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	G	C	tCw	wGa	tC	Ga	tC_mutation	tC_mutation_to_G	tC_mutation_to_T	APOBEC_mutation	APOBEC_mutation_to_G	APOBEC_mutation_to_T	"CONTEXT(+/-20)"	g_counts	c_counts	tcw_counts	wga_counts	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	newbase	end	tum_allele1	tum_allele2	start	effect_idx	newbase_idx	pat_idx	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
KLHL17	339451	broad.mit.edu	37	chr1	900527	900527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagctgctcaatttcccgCcgccatcctccccgacgctg	9	18	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:900527C>T	uc001aca.1	+	12	1992	c.1885C>T	c.(1885-1887)CCG>TCG	p.P629S	KLHL17_uc001acc.1_RNA|PLEKHN1_uc001acd.2_5'Flank|PLEKHN1_uc001acf.2_5'Flank|PLEKHN1_uc001ace.2_5'Flank	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	kelch-like 17	629	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAATTTCCCGCCGCCATCCTC	0.652													T	900527	C	T	900527	3	4	1	1	0	0	0	0	1	0	0	0	8372	739	26	2	1931	2	KLHL17	1	900527	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08		900527	248350094	1	1											
UBE2J2	118424	broad.mit.edu	37	chr1	1192407	1192407	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctatactgcccagggtggGgcccttctccaccatgaagc	10	15	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:1192407G>T	uc001adn.2	-	5	689	c.379C>A	c.(379-381)CCC>ACC	p.P127T	UBE2J2_uc001adm.2_Missense_Mutation_p.P92T|UBE2J2_uc001ado.2_Missense_Mutation_p.P143T|UBE2J2_uc001adp.2_Missense_Mutation_p.P127T|UBE2J2_uc001adq.2_Missense_Mutation_p.P75T|UBE2J2_uc001adr.2_Missense_Mutation_p.P75T|UBE2J2_uc001ads.2_Missense_Mutation_p.P75T	NM_194458	NP_919440	Q8N2K1	UB2J2_HUMAN	ubiquitin conjugating enzyme E2, J2 isoform 3	127	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CCCAGGGTGGGGCCCTTCTCC	0.592													T	1192407	G	T	1192407	3	4	1	1	0	0	0	0	1	0	0	0	16858	1232	43	5	412	5	UBE2J2	1	1192407	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	291880	1192407	248058214	2	2											
TAS1R3	83756	broad.mit.edu	37	chr1	1266841	1266841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggactacgtgctgggggGgctgttccccctgggcgagg	21	10	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:1266841G>A	uc010nyk.1	+	1	116	c.116G>A	c.(115-117)GGG>GAG	p.G39E		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	39	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GTGCTGGGGGGGCTGTTCCCC	0.697													A	1266841	G	A	1266841	3	1	1	1	0	0	0	0	1	0	0	0	15561	1232	43	4	118	4	TAS1R3	1	1266841	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	74434	1266841	247983780	3	3											
ATAD3C	219293	broad.mit.edu	37	chr1	1403815	1403815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccgaggccatgatggacGcctgcgtgcaagactttgtc	13	11	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:1403815G>A	uc001aft.2	+	12	2136	c.1141G>A	c.(1141-1143)GCC>ACC	p.A381T		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	381							ATP binding|nucleoside-triphosphatase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CATGATGGACGCCTGCGTGCA	0.657													A	1403815	G	A	1403815	3	1	1	1	0	0	0	0	1	0	0	0	1075	1087	38	1	1187	1	ATAD3C	1	1403815	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	136974	1403815	247846806	4	4											
PLCH2	9651	broad.mit.edu	37	chr1	2411682	2411682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggcagcctgagcattggCgaggtcctgcagctgctgca	15	11	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:2411682C>T	uc001aji.1	+	4	850	c.576C>T	c.(574-576)GGC>GGT	p.G192G	PLCH2_uc010nyz.1_5'UTR|PLCH2_uc009vle.1_5'UTR|PLCH2_uc001ajj.1_5'UTR|PLCH2_uc001ajk.1_5'UTR	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	192	Potential.|EF-hand 1.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TGAGCATTGGCGAGGTCCTGC	0.627													T	2411682	C	T	2411682	2	4	1	1	0	0	0	0	0	0	0	1	12038	755	27	1		1	PLCH2	1	2411682	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1007867	2411682	246838939	5	5											
ACTRT2	140625	broad.mit.edu	37	chr1	2939156	2939157	+	Frame_Shift_Ins	INS	-	-	G													ttggggagattgtgctgtcgINSgggggcactaccctgttcca							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:2939155_2939156C>CG	uc001ajz.3	+	0	1110_1111	c.905_906C>CG	c.(904-906)tcgfs	p.S302fs		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	302						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		ATTGTGCTGTCGGGGGGCACTA	0.614													G	2939157	-	G	2939156	7	5	1	1	0	1	1	0	0	0	0	0	219	1103	39	0	908	0	ACTRT2	1	2939156	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	527474	2939156	246311465	6	6											
PRDM16	63976	broad.mit.edu	37	chr1	3322195	3322195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacaagcatatccacagcaCggtgaagcctttcatatgtg	9	11	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:3322195C>T	uc001akf.2	+	8	1249	c.1169C>T	c.(1168-1170)ACG>ATG	p.T390M	PRDM16_uc001akc.2_Missense_Mutation_p.T390M|PRDM16_uc001akd.2_Missense_Mutation_p.T390M|PRDM16_uc001ake.2_Missense_Mutation_p.T390M|PRDM16_uc009vlh.2_Missense_Mutation_p.T91M	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	390					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ATCCACAGCACGGTGAAGCCT	0.701			T	EVI1	MDS|AML								T	3322195	C	T	3322195	3	4	1	1	0	0	0	0	1	0	0	0	12457	536	19	1	1199	1	PRDM16	1	3322195	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	383039	3322195	245928426	7	7											
MEGF6	1953	broad.mit.edu	37	chr1	3428675	3428675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacactgggccagccctgCggcacattcgtccacatctg	11	16	1	0	rs115175505	by1000genomes	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:3428675C>T	uc001akl.2	-	8	1098	c.871G>A	c.(871-873)GCA>ACA	p.A291T	MEGF6_uc001akk.2_Missense_Mutation_p.A186T	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	291	EGF-like 5; calcium-binding (Potential).					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCAGCCCTGCGGCACATTCG	0.652													T	3428675	C	T	3428675	3	4	1	1	0	0	0	0	1	0	0	0	9462	768	27	1	3874	1	MEGF6	1	3428675	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	106480	3428675	245821946	8	8											
GPR153	387509	broad.mit.edu	37	chr1	6313841	6313841	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggtcacgaggcccgtggtCtgcagagaggttttggcggg	19	8	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:6313841C>T	uc001amp.1	-	3	983	c.723G>A	c.(721-723)CAG>CAA	p.Q241Q		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	241	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GGCCCGTGGTCTGCAGAGAGG	0.662													T	6313841	C	T	6313841	2	4	1	1	0	0	0	0	0	0	0	1	6659	912	32	4		4	GPR153	1	6313841	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2885166	6313841	242936780	9	9											
NOL9	79707	broad.mit.edu	37	chr1	6592755	6592755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatttactgtggtcagagcGgaactgaaccacgtggctgg	13	8	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:6592755G>A	uc001ans.2	-	8	1322	c.1303C>T	c.(1303-1305)CGC>TGC	p.R435C	NOL9_uc010nzs.1_RNA	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	435					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			skin(1)	1	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTCAGAGCGGAACTGAACC	0.493													A	6592755	G	A	6592755	3	1	1	1	0	0	0	0	1	0	0	0	10528	1116	39	1	825	1	NOL9	1	6592755	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	278914	6592755	242657866	10	10											
RERE	473	broad.mit.edu	37	chr1	8418690	8418690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcccgctcccggagctccCgctcgcggatggtggggtcg	15	16	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:8418690C>T	uc001ape.2	-	21	4715	c.3905G>A	c.(3904-3906)CGG>CAG	p.R1302Q	RERE_uc001apf.2_Missense_Mutation_p.R1302Q|RERE_uc001apd.2_Missense_Mutation_p.R748Q	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1302	Arg/Glu-rich (mixed charge).				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CCGGAGCTCCCGCTCGCGGAT	0.667													T	8418690	C	T	8418690	3	4	1	1	0	0	0	0	1	0	0	0	13231	652	23	1	811	1	RERE	1	8418690	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1825935	8418690	240831931	11	11											
MTOR	2475	broad.mit.edu	37	chr1	11294235	11294235	+	Frame_Shift_Del	DEL	G	G	-													catgtaggggcggatgagtcGgggggcattggagaccaggt							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:11294234_11294234CG>C	uc001asd.3	-	13	2418	c.2297_2297CG>G	c.(2296-2298)cgafs	p.R766fs		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	766					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GCGGATGAGTCGGGGGGCATT	0.537													-	11294235	G	-	11294235	7	5	1	1	0	1	0	1	0	0	0	0	9954	1124	39	0	5533	0	MTOR	1	11294235	Frame_Shift_Del	DEL	G	TCGA-B7-5816-01A-21D-1600-08	2875545	11294235	237956386	12	12											
UBIAD1	29914	broad.mit.edu	37	chr1	11345830	11345830	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccactggtctatgccatccCcctcgccctcagcaccgagg	8	20	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:11345830C>A	uc001asg.2	+	2	993	c.659C>A	c.(658-660)CCC>CAC	p.P220H		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	220	Helical; (Potential).				menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		TATGCCATCCCCCTCGCCCTC	0.612													A	11345830	C	A	11345830	3	1	1	1	0	0	0	0	1	0	0	0	16882	623	22	5	665	5	UBIAD1	1	11345830	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	51595	11345830	237904791	13	13											
MTHFR	4524	broad.mit.edu	37	chr1	11850909	11850909	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggacggggactcctccTcatacagctttccccaccgc	10	17	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:11850909T>G	uc001atc.1	-	12	1983	c.1799A>C	c.(1798-1800)GAG>GCG	p.E600A	MTHFR_uc001atb.1_Missense_Mutation_p.E623A	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	600					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GGACTCCTCCTCATACAGCTT	0.443													G	11850909	T	G	11850909	3	3	1	1	0	0	0	0	1	0	0	0	9931	1551	54	5	175	5	MTHFR	1	11850909	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	505079	11850909	237399712	14	14											
VPS13D	55187	broad.mit.edu	37	chr1	12337952	12337952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaactgtattctttgaattGcacccagttggcaggtagag	10	7	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:12337952G>A	uc001atv.2	+	19	4448	c.4307G>A	c.(4306-4308)TGC>TAC	p.C1436Y	VPS13D_uc001atw.2_Missense_Mutation_p.C1436Y|VPS13D_uc001atx.2_Missense_Mutation_p.C624Y	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1436					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTTTGAATTGCACCCAGTTG	0.493													A	12337952	G	A	12337952	3	1	1	1	0	0	0	0	1	0	0	0	17189	1319	46	2	4377	2	VPS13D	1	12337952	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	487043	12337952	236912669	15	15											
HMGCL	3155	broad.mit.edu	37	chr1	24140703	24140703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacagaaatattggctgaCtgcgctgccttcaggattgc	11	11	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:24140703C>T	uc001bib.2	-	5	518	c.474G>A	c.(472-474)CAG>CAA	p.Q158Q	HMGCL_uc010oec.1_Intron|HMGCL_uc009vqr.2_Intron|HMGCL_uc001bic.2_Silent_p.Q133Q|HMGCL_uc009vqs.1_Intron|HMGCL_uc001bid.1_Silent_p.Q158Q	NM_000191	NP_000182	P35914	HMGCL_HUMAN	3-hydroxy-3-methylglutaryl CoA lyase isoform 1	158					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		TATTGGCTGACTGCGCTGCCT	0.498													T	24140703	C	T	24140703	2	4	1	1	0	0	0	0	0	0	0	1	7229	564	20	4		4	HMGCL	1	24140703	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	11802751	24140703	225109918	16	16											
LDLRAP1	26119	broad.mit.edu	37	chr1	25893405	25893405	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcccaggacatgcattaCgcccagtgcctctcgcctgt	9	16	1	0	rs147242385		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:25893405C>T	uc001bkl.3	+	9	963	c.849C>T	c.(847-849)TAC>TAT	p.Y283Y	LDLRAP1_uc009vrw.2_RNA|LDLRAP1_uc009vrx.2_Silent_p.Y113Y	NM_015627	NP_056442	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein	283					amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		ACATGCATTACGCCCAGTGCC	0.642													T	25893405	C	T	25893405	2	4	1	1	0	0	0	0	0	0	0	1	8708	547	19	1		1	LDLRAP1	1	25893405	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1752702	25893405	223357216	17	17											
ARID1A	8289	broad.mit.edu	37	chr1	27087486	27087486	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttctctcctcatacctcccCtcacctgcctggcatccgag	5	19	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:27087486C>A	uc001bmv.1	+	5	2433	c.2060C>A	c.(2059-2061)CCT>CAT	p.P687H	ARID1A_uc001bmt.1_Missense_Mutation_p.P687H|ARID1A_uc001bmu.1_Missense_Mutation_p.P687H|ARID1A_uc001bmw.1_Missense_Mutation_p.P304H	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	687					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATACCTCCCCTCACCTGCCT	0.602			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								A	27087486	C	A	27087486	3	1	1	1	0	0	0	0	1	0	0	0	913	681	24	5	2078	5	ARID1A	1	27087486	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1194081	27087486	222163135	18	18											
MAP3K6	9064	broad.mit.edu	37	chr1	27691347	27691347	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagctctcacgcacaccaaGgtggtagaacagggagggct	14	10	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:27691347G>T	uc001bny.1	-	2	646	c.397C>A	c.(397-399)CTT>ATT	p.L133I	MAP3K6_uc009vsw.1_Missense_Mutation_p.L133I|MAP3K6_uc001bnz.1_5'Flank	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	133					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGCACACCAAGGTGGTAGAAC	0.637													T	27691347	G	T	27691347	3	4	1	1	0	0	0	0	1	0	0	0	9254	1000	35	5	3581	5	MAP3K6	1	27691347	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	603861	27691347	221559274	19	19											
GPR3	2827	broad.mit.edu	37	chr1	27721183	27721183	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctacaactccatgatcaaccCtatcatctacgccttccgca	3	17	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:27721183C>A	uc001bod.2	+	2	976	c.881C>A	c.(880-882)CCT>CAT	p.P294H		NM_005281	NP_005272	P46089	GPR3_HUMAN	G protein-coupled receptor 3	294	Helical; Name=7; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				ovary(1)	1		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		ATGATCAACCCTATCATCTAC	0.562													A	27721183	C	A	27721183	3	1	1	1	0	0	0	0	1	0	0	0	6686	681	24	5	883	5	GPR3	1	27721183	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	29836	27721183	221529438	20	20											
TMEM39B	55116	broad.mit.edu	37	chr1	32566155	32566155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgacgtctcccacttcCgcttccatgtgagtctcctc	6	18	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:32566155C>T	uc010ogv.1	+	8	1374	c.1228C>T	c.(1228-1230)CGC>TGC	p.R410C	TMEM39B_uc010ogt.1_RNA|TMEM39B_uc010ogu.1_Missense_Mutation_p.R283C|TMEM39B_uc001bue.3_Missense_Mutation_p.R411C|TMEM39B_uc001buf.3_Missense_Mutation_p.R211C|TMEM39B_uc010ogw.1_Missense_Mutation_p.R211C	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	410						integral to membrane					0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTCCCACTTCCGCTTCCATGT	0.582													T	32566155	C	T	32566155	3	4	1	1	0	0	0	0	1	0	0	0	16159	652	23	1	1258	1	TMEM39B	1	32566155	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	4844972	32566155	216684466	21	21											
KIAA1522	57648	broad.mit.edu	37	chr1	33235814	33235814	+	Frame_Shift_Del	DEL	C	C	-													gagcccggccatgtccatctCcccccaggccacctacctgt							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:33235813_33235813TC>T	uc001bvu.1	+	5	1077	c.1033_1033TC>T	c.(1033-1035)tccfs	p.S345fs	KIAA1522_uc010ohm.1_Frame_Shift_Del_p.S297fs|KIAA1522_uc001bvv.2_Frame_Shift_Del_p.S286fs|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	286	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CATGTCCATCTCCCCCCAGGC	0.657													-	33235814	C	-	33235814	7	5	1	1	0	1	0	1	0	0	0	0	8238	855	30	0	1056	0	KIAA1522	1	33235814	Frame_Shift_Del	DEL	C	TCGA-B7-5816-01A-21D-1600-08	669659	33235814	216014807	22	22											
ZMYM4	9202	broad.mit.edu	37	chr1	35847348	35847348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagttcatcgtgtatcacgGcatacaagcaggtacatgac	10	9	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:35847348G>A	uc001byt.2	+	9	1638	c.1558G>A	c.(1558-1560)GCA>ACA	p.A520T	ZMYM4_uc009vuu.2_Missense_Mutation_p.A488T|ZMYM4_uc001byu.2_Missense_Mutation_p.A196T|ZMYM4_uc009vuv.2_Missense_Mutation_p.A259T	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	520	MYM-type 4.				multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGTATCACGGCATACAAGCA	0.388													A	35847348	G	A	35847348	3	1	1	1	0	0	0	0	1	0	0	0	17699	1203	42	2	1592	2	ZMYM4	1	35847348	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2611534	35847348	213403273	23	23											
EIF2C3	192669	broad.mit.edu	37	chr1	36509104	36509104	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgatacagacattacacaCccatatgagttcgattttta	6	8	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:36509104C>T	uc001bzp.2	+	17	2485	c.2229C>T	c.(2227-2229)CAC>CAT	p.H743H	EIF2C3_uc001bzq.2_Silent_p.H509H	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	743	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)				ACATTACACACCCATATGAGT	0.363													T	36509104	C	T	36509104	2	4	1	1	0	0	0	0	0	0	0	1	5007	506	18	4		4	EIF2C3	1	36509104	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	661756	36509104	212741517	24	24											
SNIP1	79753	broad.mit.edu	37	chr1	38006062	38006062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgttgttgccaccaggccGaggaaccaactcctgagact	10	12	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:38006062G>A	uc001cbi.2	-	3	695	c.622C>T	c.(622-624)CGG>TGG	p.R208W	SNIP1_uc010oid.1_RNA	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	208					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			upper_aerodigestive_tract(1)|lung(1)	2		Myeloproliferative disorder(586;0.0393)				CCACCAGGCCGAGGAACCAAC	0.532													A	38006062	G	A	38006062	3	1	1	1	0	0	0	0	1	0	0	0	14848	1057	37	1	576	1	SNIP1	1	38006062	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1496958	38006062	211244559	25	25											
EPHA10	284656	broad.mit.edu	37	chr1	38227196	38227196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctgccaggctccccttccGagtgcgccacgcacgttccg	12	18	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:38227196G>A	uc009vvi.2	-	3	817	c.731C>T	c.(730-732)TCG>TTG	p.S244L	EPHA10_uc001cbw.3_Missense_Mutation_p.S244L	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	244	Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCCCCTTCCGAGTGCGCCAC	0.731													A	38227196	G	A	38227196	3	1	1	1	0	0	0	0	1	0	0	0	5166	1059	37	1	2393	1	EPHA10	1	38227196	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	221134	38227196	211023425	26	26											
MTF1	4520	broad.mit.edu	37	chr1	38304332	38304332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtatgagttcgaatgtgCttcctcagatcactgagtgt	10	9	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:38304332C>T	uc001cce.1	-	4	885	c.744G>A	c.(742-744)AAG>AAA	p.K248K	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	248	C2H2-type 4.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTCGAATGTGCTTCCTCAGAT	0.463													T	38304332	C	T	38304332	2	4	1	1	0	0	0	0	0	0	0	1	9922	796	28	2		2	MTF1	1	38304332	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	77136	38304332	210946289	27	27											
MACF1	23499	broad.mit.edu	37	chr1	39800302	39800302	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtagactttgcatctacgcTgaaggttctagaagcccagg	11	9	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:39800302T>C	uc010oiu.1	+	1	3493	c.3362T>C	c.(3361-3363)CTG>CCG	p.L1121P	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	2686	Plectin 11.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCATCTACGCTGAAGGTTCTA	0.428													C	39800302	T	C	39800302	3	2	1	1	0	0	0	0	1	0	0	0	9144	1580	55	3	8133	3	MACF1	1	39800302	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1495970	39800302	209450319	28	28											
HIVEP3	59269	broad.mit.edu	37	chr1	42041284	42041284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcatcctcctccggctccCctctcctctcttcttccttc	4	21	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:42041284C>A	uc001cgz.3	-	5	6351	c.5138G>T	c.(5137-5139)GGG>GTG	p.G1713V	HIVEP3_uc001cha.3_Missense_Mutation_p.G1713V|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1713					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCCGGCTCCCCTCTCCTCTC	0.562													A	42041284	C	A	42041284	3	1	1	1	0	0	0	0	1	0	0	0	7188	623	22	5	2102	5	HIVEP3	1	42041284	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2240982	42041284	207209337	29	29											
KDM4A	9682	broad.mit.edu	37	chr1	44156565	44156565	+	Frame_Shift_Del	DEL	C	C	-													tggaaatgcttcagatttagCcccccagaagcagaggacca							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:44156564_44156564GC>G	uc001cjx.3	+	13	2252	c.2086_2086GC>G	c.(2086-2088)gccfs	p.A696fs	KDM4A_uc010oki.2_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA.	696					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TTCAGATTTAGCCCCCCAGAA	0.468													-	44156565	C	-	44156565	7	5	1	1	0	1	0	1	0	0	0	0	8128	739	26	0	2137	0	KDM4A	1	44156565	Frame_Shift_Del	DEL	C	TCGA-B7-5816-01A-21D-1600-08	2115281	44156565	205094056	30	30											
RNF220	55182	broad.mit.edu	37	chr1	44878229	44878229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacagagtctccccacttgCgcttctcagatgcagatggc	9	14	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:44878229C>T	uc001clv.1	+	2	820	c.460C>T	c.(460-462)CGC>TGC	p.R154C	RNF220_uc001clw.1_Missense_Mutation_p.R154C	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	154					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TCCCCACTTGCGCTTCTCAGA	0.542													T	44878229	C	T	44878229	3	4	1	1	0	0	0	0	1	0	0	0	13483	768	27	1	462	1	RNF220	1	44878229	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	721664	44878229	204372392	31	31											
MUTYH	4595	broad.mit.edu	37	chr1	45797950	45797950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggttgaaatctcctggcCgggctgggtccaccagctgc	13	13	1	1	rs149866955	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:45797950C>T	uc001cnm.2	-	10	1028	c.812G>A	c.(811-813)CGG>CAG	p.R271Q	MUTYH_uc009vxn.2_Missense_Mutation_p.R96Q|MUTYH_uc001cnf.2_Missense_Mutation_p.R246Q|MUTYH_uc009vxo.2_Missense_Mutation_p.R246Q|MUTYH_uc001cng.2_Missense_Mutation_p.R257Q|MUTYH_uc001cnj.2_Missense_Mutation_p.R154Q|MUTYH_uc001cni.2_Missense_Mutation_p.R246Q|MUTYH_uc001cnh.2_Missense_Mutation_p.R247Q|MUTYH_uc001cno.2_Missense_Mutation_p.R154Q|MUTYH_uc001cnk.2_Missense_Mutation_p.R131Q|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Missense_Mutation_p.R260Q|MUTYH_uc009vxp.2_Missense_Mutation_p.R274Q|MUTYH_uc001cnn.2_Missense_Mutation_p.R261Q	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	mutY homolog isoform 1	271					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding				0	Acute lymphoblastic leukemia(166;0.155)					ATCTCCTGGCCGGGCTGGGTC	0.612			Mis			colorectal		BER_DNA_glycosylases	MUTYH-associated_polyposis				T	45797950	C	T	45797950	3	4	1	1	0	0	0	0	1	0	0	0	9993	652	23	1	856	1	MUTYH	1	45797950	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	919721	45797950	203452671	32	32											
TSPAN1	10103	broad.mit.edu	37	chr1	46650505	46650505	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgccatcaagaaagatTatggttcccaggaagacttc	9	10	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:46650505T>C	uc001cpd.2	+	6	852	c.388T>C	c.(388-390)TAT>CAT	p.Y130H	TSPAN1_uc009vyd.1_Missense_Mutation_p.Y130H	NM_005727	NP_005718	O60635	TSN1_HUMAN	tetraspan 1	130	Extracellular (Potential).					integral to membrane|lysosomal membrane				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				CAAGAAAGATTATGGTTCCCA	0.542													C	46650505	T	C	46650505	3	2	1	1	0	0	0	0	1	0	0	0	16630	1754	61	3	402	3	TSPAN1	1	46650505	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	852555	46650505	202600116	33	33											
KIAA0494	9813	broad.mit.edu	37	chr1	47154079	47154079	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctcatagcaaccacatcGctttctatcaggttgactct	6	12	4	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:47154079G>A	uc001cqk.3	-	7	1910	c.933C>T	c.(931-933)AGC>AGT	p.S311S	KIAA0494_uc010omh.1_Intron|KIAA0494_uc010omj.1_Intron|KIAA0494_uc001cql.1_Silent_p.S311S	NM_014774	NP_055589	O75071	K0494_HUMAN	hypothetical protein LOC9813	311							calcium ion binding				0	Acute lymphoblastic leukemia(166;0.155)					CAACCACATCGCTTTCTATCA	0.443													A	47154079	G	A	47154079	2	1	1	1	0	0	0	0	0	0	0	1	8179	1078	38	1		1	KIAA0494	1	47154079	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	503574	47154079	202096542	34	34											
NRD1	4898	broad.mit.edu	37	chr1	52344138	52344138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgccttgttccttccaggCatggccagaataggaaaggg	12	10	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:52344138C>T	uc001ctc.3	-	1	472	c.150G>A	c.(148-150)ATG>ATA	p.M50I	NRD1_uc001ctd.3_Missense_Mutation_p.M50I|NRD1_uc001cte.2_5'Flank|NRD1_uc001ctf.2_Missense_Mutation_p.M50I|NRD1_uc010ong.1_Intron|NRD1_uc009vzc.1_5'Flank	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	50					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						TCCTTCCAGGCATGGCCAGAA	0.642													T	52344138	C	T	52344138	3	4	1	1	0	0	0	0	1	0	0	0	10645	710	25	2	3641	2	NRD1	1	52344138	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	5190059	52344138	196906483	35	35											
DHCR24	1718	broad.mit.edu	37	chr1	55319114	55319114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccactcacccatgcaCgctgcggacaaacttctcca	8	17	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:55319114C>T	uc001cyc.1	-	8	1519	c.1390G>A	c.(1390-1392)GTG>ATG	p.V464M	DHCR24_uc010ooi.1_Missense_Mutation_p.V107M|DHCR24_uc010ooj.1_Missense_Mutation_p.V278M|DHCR24_uc010ook.1_Missense_Mutation_p.V423M	NM_014762	NP_055577	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase precursor	464					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			pancreas(1)	1						CACCCATGCACGCTGCGGACA	0.567													T	55319114	C	T	55319114	3	4	1	1	0	0	0	0	1	0	0	0	4476	536	19	1	168	1	DHCR24	1	55319114	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2974976	55319114	193931507	36	36											
USP24	23358	broad.mit.edu	37	chr1	55591012	55591012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtattgcaactcgagcaGcagggatgatttcctcaacc	9	11	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:55591012G>A	uc001cyg.3	-	31	3461	c.3461C>T	c.(3460-3462)GCT>GTT	p.A1154V		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	1314					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						AACTCGAGCAGCAGGGATGAT	0.388													A	55591012	G	A	55591012	3	1	1	1	0	0	0	0	1	0	0	0	17052	971	34	2	4061	2	USP24	1	55591012	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	271898	55591012	193659609	37	37											
C8A	731	broad.mit.edu	37	chr1	57340626	57340626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaaaatctggtttagtaccGacaccggagcctcttgcagc	9	12	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:57340626G>A	uc001cyo.2	+	3	308	c.176G>A	c.(175-177)CGA>CAA	p.R59Q		NM_000562	NP_000553	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	59	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.R59Q(1)		ovary(1)|central_nervous_system(1)|skin(1)	3						GTTTAGTACCGACACCGGAGC	0.413													A	57340626	G	A	57340626	3	1	1	1	0	0	0	0	1	0	0	0	2416	1058	37	1	186	1	C8A	1	57340626	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1749614	57340626	191909995	38	38											
ANKRD13C	81573	broad.mit.edu	37	chr1	70819761	70819761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaccgggtagtgtgcggGgcaactgcctccatccgcga	15	13	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:70819761G>A	uc001dex.3	-	1	657	c.331C>T	c.(331-333)CCC>TCC	p.P111S	ANKRD13C_uc009wbk.2_Missense_Mutation_p.P111S|ANKRD13C_uc001dey.3_Missense_Mutation_p.P111S|HHLA3_uc010oqp.1_5'Flank|HHLA3_uc001dfa.2_5'Flank|HHLA3_uc001dfb.2_5'Flank|HHLA3_uc001dfc.2_5'Flank	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	111	ANK 1.				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding				0						TAGTGTGCGGGGCAACTGCCT	0.617													A	70819761	G	A	70819761	3	1	1	1	0	0	0	0	1	0	0	0	643	1232	43	4	1346	4	ANKRD13C	1	70819761	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	13479135	70819761	178430860	39	39											
TNNI3K	51086	broad.mit.edu	37	chr1	74834788	74834788	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaattgagttccatgagatTattggctcaggtaacctaaa	9	6	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:74834788T>C	uc001dgf.1	+	14	1455	c.1404T>C	c.(1402-1404)ATT>ATC	p.I468I	TNNI3K_uc001dgc.1_Silent_p.I569I|TNNI3K_uc001dgd.2_Silent_p.I569I|TNNI3K_uc001dge.1_Silent_p.I569I	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	468	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						TCCATGAGATTATTGGCTCAG	0.328													C	74834788	T	C	74834788	2	2	1	1	0	0	0	0	0	0	0	1	16326	1742	61	3		3	TNNI3K	1	74834788	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	4015027	74834788	174415833	40	40											
LHX8	431707	broad.mit.edu	37	chr1	75622741	75622741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggaacgatgttaactgCgctgcatagttatatggatg	12	5	0	1	rs34889650	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:75622741C>T	uc001dgo.2	+	9	1638	c.974C>T	c.(973-975)GCG>GTG	p.A325V	LHX8_uc001dgq.2_Missense_Mutation_p.A264V	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	LIM homeobox 8	325						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						ATGTTAACTGCGCTGCATAGT	0.453													T	75622741	C	T	75622741	3	4	1	1	0	0	0	0	1	0	0	0	8776	768	27	1	1004	1	LHX8	1	75622741	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	787953	75622741	173627880	41	41											
MSH4	4438	broad.mit.edu	37	chr1	76272810	76272810	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actatcccagtttgcagacaAcacaacatatgcaaaggtaa	6	10	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:76272810A>G	uc001dhd.1	+	3	613	c.572A>G	c.(571-573)AAC>AGC	p.N191S		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	191					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			lung(3)|ovary(2)	5						TTTGCAGACAACACAACATAT	0.373								MMR					G	76272810	A	G	76272810	3	3	1	1	0	0	0	0	1	0	0	0	9872	43	2	3	582	3	MSH4	1	76272810	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	650069	76272810	172977811	42	42											
IFI44	10561	broad.mit.edu	37	chr1	79120723	79120723	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaagagcttactgtctgcCttgagaacttatgaaccata	9	8	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:79120723C>A	uc001dip.3	+	4	643	c.519C>A	c.(517-519)GCC>GCA	p.A173A	IFI44_uc010orr.1_Silent_p.A173A|IFI44_uc010ors.1_5'UTR	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN	interferon-induced, hepatitis C-associated	173					response to virus	cytoplasm				ovary(1)|central_nervous_system(1)	2						TACTGTCTGCCTTGAGAACTT	0.413													A	79120723	C	A	79120723	2	1	1	1	0	0	0	0	0	0	0	1	7517	668	24	5		5	IFI44	1	79120723	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2847913	79120723	170129898	43	43											
ELTD1	64123	broad.mit.edu	37	chr1	79412005	79412005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaacctgtcttggttactGctggatctgaagccaggtac	10	9	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:79412005G>A	uc001diq.3	-	3	435	c.279C>T	c.(277-279)AGC>AGT	p.S93S		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	93	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CTTGGTTACTGCTGGATCTGA	0.363													A	79412005	G	A	79412005	2	1	1	1	0	0	0	0	0	0	0	1	5084	1310	46	2		2	ELTD1	1	79412005	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	291282	79412005	169838616	44	44											
CLCA4	22802	broad.mit.edu	37	chr1	87045052	87045052	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggggaaattgaagcaaAcccgccaagacctgaaattg	11	9	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:87045052A>G	uc009wcs.2	+	13	2182	c.2138A>G	c.(2137-2139)AAC>AGC	p.N713S	CLCA4_uc009wct.2_Missense_Mutation_p.N476S|CLCA4_uc009wcu.2_Missense_Mutation_p.N533S	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	713						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ATTGAAGCAAACCCGCCAAGA	0.423													G	87045052	A	G	87045052	3	3	1	1	0	0	0	0	1	0	0	0	3459	43	2	3	2188	3	CLCA4	1	87045052	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	7633047	87045052	162205569	45	45											
GBP2	2634	broad.mit.edu	37	chr1	89579814	89579814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctcctggagggtttccGtgggcagctgcaccttctgg	15	12	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:89579814G>A	uc001dmz.1	-	7	1305	c.1034C>T	c.(1033-1035)ACG>ATG	p.T345M	GBP2_uc001dmy.1_RNA	NM_004120	NP_004111	P32456	GBP2_HUMAN	guanylate binding protein 2,	345					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)	1		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GAGGGTTTCCGTGGGCAGCTG	0.542													A	89579814	G	A	89579814	3	1	1	1	0	0	0	0	1	0	0	0	6274	1145	40	1	761	1	GBP2	1	89579814	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2534762	89579814	159670807	46	46											
GBP5	115362	broad.mit.edu	37	chr1	89735131	89735131	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgctaccacaactacaggTtgcgtaatggcagacaggat	10	10	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:89735131T>C	uc001dnc.2	-	3	645	c.108A>G	c.(106-108)CAA>CAG	p.Q36Q	GBP5_uc001dnd.2_Silent_p.Q36Q|GBP5_uc001dne.1_Silent_p.Q36Q	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	36						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)		CAACTACAGGTTGCGTAATGG	0.493													C	89735131	T	C	89735131	2	2	1	1	0	0	0	0	0	0	0	1	6277	1722	60	3		3	GBP5	1	89735131	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	155317	89735131	159515490	47	47											
LRRC8B	23507	broad.mit.edu	37	chr1	90048552	90048552	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgttacgagaaacagctcCattggtttgcaaagtttttc	8	8	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:90048552C>A	uc001dni.2	+	7	850	c.343C>A	c.(343-345)CAT>AAT	p.H115N	LRRC8B_uc001dnh.2_Missense_Mutation_p.H115N|LRRC8B_uc001dnj.2_Missense_Mutation_p.H115N	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	115						integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GAAACAGCTCCATTGGTTTGC	0.512													A	90048552	C	A	90048552	3	1	1	1	0	0	0	0	1	0	0	0	9022	594	21	5	345	5	LRRC8B	1	90048552	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	313421	90048552	159202069	48	48											
EVI5	7813	broad.mit.edu	37	chr1	93257933	93257933	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggtttctaaaggcagcagTcattttgttggtaaccatga	11	6	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:93257933T>C	uc001dox.2	-	1	29	c.19A>G	c.(19-21)ACT>GCT	p.T7A	EVI5_uc010otf.1_Missense_Mutation_p.T7A	NM_005665	NP_005656	O60447	EVI5_HUMAN	ecotropic viral integration site 5	7	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			ovary(1)|breast(1)	2		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AAGGCAGCAGTCATTTTGTTG	0.348													C	93257933	T	C	93257933	3	2	1	1	0	0	0	0	1	0	0	0	5289	1667	58	3	2485	3	EVI5	1	93257933	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	3209381	93257933	155992688	49	49											
ABCA4	24	broad.mit.edu	37	chr1	94512630	94512630	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaacccaccctggatgCtcacgttcaaagaaggagtc	10	13	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:94512630C>T	uc001dqh.2	-	19	2867	c.2763G>A	c.(2761-2763)GAG>GAA	p.E921E	ABCA4_uc010otn.1_Silent_p.E847E	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	921	Cytoplasmic.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACCCTGGATGCTCACGTTCAA	0.493													T	94512630	C	T	94512630	2	4	1	1	0	0	0	0	0	0	0	1	34	796	28	2		2	ABCA4	1	94512630	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1254697	94512630	154737991	50	50											
AGL	178	broad.mit.edu	37	chr1	100350169	100350169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtcgctgttggaattcttcGaaatcatctgacacaattca	7	9	4	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:100350169G>A	uc001dsi.1	+	20	2991	c.2591G>A	c.(2590-2592)CGA>CAA	p.R864Q	AGL_uc001dsj.1_Missense_Mutation_p.R864Q|AGL_uc001dsk.1_Missense_Mutation_p.R864Q|AGL_uc001dsl.1_Missense_Mutation_p.R864Q|AGL_uc001dsm.1_Missense_Mutation_p.R848Q|AGL_uc001dsn.1_Missense_Mutation_p.R847Q	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	864	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GGAATTCTTCGAAATCATCTG	0.333													A	100350169	G	A	100350169	3	1	1	1	0	0	0	0	1	0	0	0	384	1058	37	1	2734	1	AGL	1	100350169	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	5837539	100350169	148900452	51	51											
SLC25A24	29957	broad.mit.edu	37	chr1	108697684	108697684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttcccctccaaagcgagCggatacctccttcttttacc	5	16	1	0	rs143348106		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:108697684C>T	uc001dvn.3	-	6	957	c.743G>A	c.(742-744)CGC>CAC	p.R248H	SLC25A24_uc001dvm.2_Missense_Mutation_p.R229H	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 member 24 isoform 1	248	Solcar 1.|Mitochondrial matrix (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)	1		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CCAAAGCGAGCGGATACCTCC	0.393													T	108697684	C	T	108697684	3	4	1	1	0	0	0	0	1	0	0	0	14487	768	27	1	710	1	SLC25A24	1	108697684	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	8347515	108697684	140552937	52	52											
KIAA1324	57535	broad.mit.edu	37	chr1	109740119	109740119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaaatgtctgtgtgcacCgacaatgtcactgacctccg	10	11	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:109740119C>T	uc001dwq.2	+	17	2281	c.2145C>T	c.(2143-2145)ACC>ACT	p.T715T	KIAA1324_uc009wex.1_Silent_p.T665T|KIAA1324_uc009wey.2_Silent_p.T628T|KIAA1324_uc010ovg.1_Silent_p.T613T|KIAA1324_uc001dwr.2_Silent_p.T365T|KIAA1324_uc001dws.1_RNA|KIAA1324_uc009wez.1_RNA	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	hypothetical protein LOC57535 precursor	715	Extracellular (Potential).				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CTGTGTGCACCGACAATGTCA	0.537													T	109740119	C	T	109740119	2	4	1	1	0	0	0	0	0	0	0	1	8223	639	23	1		1	KIAA1324	1	109740119	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1042435	109740119	139510502	53	53											
AHCYL1	10768	broad.mit.edu	37	chr1	110561069	110561069	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtatgcaatatgggccacTccaacacagaaatcgatgtg	9	10	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:110561069T>C	uc001dyx.2	+	12	1565	c.1198T>C	c.(1198-1200)TCC>CCC	p.S400P	AHCYL1_uc010ovw.1_Missense_Mutation_p.S353P|AHCYL1_uc001dyy.2_Missense_Mutation_p.S353P|AHCYL1_uc010ovx.1_Missense_Mutation_p.S353P	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	400	NAD binding (By similarity).				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		TATGGGCCACTCCAACACAGA	0.403													C	110561069	T	C	110561069	3	2	1	1	0	0	0	0	1	0	0	0	410	1551	54	3	1244	3	AHCYL1	1	110561069	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	820950	110561069	138689552	54	54											
SLC16A4	9122	broad.mit.edu	37	chr1	110924274	110924274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataattacaatggactcacCgggtagaagtcccatagtca	8	10	2	1	rs145736696		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:110924274C>T	uc001dzo.1	-	4	546	c.364G>A	c.(364-366)GGT>AGT	p.G122S	SLC16A4_uc009wfs.1_Intron|SLC16A4_uc001dzp.1_Missense_Mutation_p.G122S|SLC16A4_uc010ovy.1_Missense_Mutation_p.G60S|SLC16A4_uc001dzq.1_Missense_Mutation_p.G60S|SLC16A4_uc010ovz.1_Intron	NM_004696	NP_004687	O15374	MOT5_HUMAN	solute carrier family 16, member 4	122	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			ovary(3)	3		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	ATGGACTCACCGGGTAGAAGT	0.294													T	110924274	C	T	110924274	3	4	1	1	0	0	0	0	1	0	0	0	14410	666	23	1	1123	1	SLC16A4	1	110924274	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	363205	110924274	138326347	55	55											
KCNA3	3738	broad.mit.edu	37	chr1	111216142	111216142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagaaggcatccgggatGctgctgaaacctgaagtggg	14	10	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:111216142G>A	uc001dzv.1	-	1	1514	c.1290C>T	c.(1288-1290)AGC>AGT	p.S430S		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	430						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCCGGGATGCTGCTGAAAC	0.542													A	111216142	G	A	111216142	2	1	1	1	0	0	0	0	0	0	0	1	8004	1310	46	2		2	KCNA3	1	111216142	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	291868	111216142	138034479	56	56											
C1orf103	55791	broad.mit.edu	37	chr1	111495091	111495091	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtccatcaattttcacacCatgactctgaactttagaaa	5	10	3	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:111495091C>A	uc001eaa.2	-	2	671	c.415G>T	c.(415-417)GGT>TGT	p.G139C	C1orf103_uc001dzz.2_Intron|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	receptor-interacting factor 1 isoform 1	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding				0		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)		ATTTTCACACCATGACTCTGA	0.363													A	111495091	C	A	111495091	3	1	1	1	0	0	0	0	1	0	0	0	1977	594	21	5	1906	5	C1orf103	1	111495091	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	278949	111495091	137755530	57	57											
ADORA3	140	broad.mit.edu	37	chr1	112042838	112042838	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagaaccagaaacaaggActtagccgtcttgaactccc	8	11	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:112042838A>C	uc001ebh.3	-	2	1458	c.691T>G	c.(691-693)TCC>GCC	p.S231A	ADORA3_uc001ebg.3_Intron|ADORA3_uc001ebf.2_Intron	NM_000677	NP_000668	P33765	AA3R_HUMAN	adenosine A3 receptor isoform 2	231	Cytoplasmic (By similarity).				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			ovary(2)|large_intestine(1)|skin(1)	4		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AGAAACAAGGACTTAGCCGTC	0.413													C	112042838	A	C	112042838	3	2	1	1	0	0	0	0	1	0	0	0	329	275	10	5	983	5	ADORA3	1	112042838	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	547747	112042838	137207783	58	58											
RSBN1	54665	broad.mit.edu	37	chr1	114320337	114320337	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catatcaaggaactctgggaAataatcaccaacttcttcat	5	10	5	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:114320337A>G	uc001edq.2	-	3	1507	c.1471T>C	c.(1471-1473)TTC>CTC	p.F491L	RSBN1_uc001edr.2_RNA	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	491						nucleus				ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACTCTGGGAAATAATCACCA	0.393													G	114320337	A	G	114320337	3	3	1	1	0	0	0	0	1	0	0	0	13696	14	1	3	957	3	RSBN1	1	114320337	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	2277499	114320337	134930284	59	59											
IGSF3	3321	broad.mit.edu	37	chr1	117142762	117142762	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttcgggttcggaagctggaGgacctgtccccccactggac	14	13	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:117142762G>T	uc001egr.1	-	7	2535	c.1830C>A	c.(1828-1830)TCC>TCA	p.S610S	IGSF3_uc001egq.1_Silent_p.S630S|IGSF3_uc001egs.1_Silent_p.S283S	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	610	Ig-like C2-type 5.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGAAGCTGGAGGACCTGTCCC	0.632													T	117142762	G	T	117142762	2	4	1	1	0	0	0	0	0	0	0	1	7601	987	35	5		5	IGSF3	1	117142762	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2822425	117142762	132107859	60	60											
PTGFRN	5738	broad.mit.edu	37	chr1	117492122	117492122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgtccctgtgggcacccGgacacaacaggagctggcac	13	14	0	0	rs150341125	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:117492122G>A	uc001egv.1	+	4	1278	c.1141G>A	c.(1141-1143)GGA>AGA	p.G381R		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	381	Ig-like C2-type 3.|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			liver(1)	1	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GTGGGCACCCGGACACAACAG	0.532													A	117492122	G	A	117492122	3	1	1	1	0	0	0	0	1	0	0	0	12750	1117	39	1	1155	1	PTGFRN	1	117492122	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	349360	117492122	131758499	61	61											
TTF2	8458	broad.mit.edu	37	chr1	117626723	117626723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaaatgaggtggagaaaCgggtgaacagcaacaaacta	13	5	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:117626723C>T	uc001egy.2	+	11	2007	c.1987C>T	c.(1987-1989)CGG>TGG	p.R663W		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	663	Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GGTGGAGAAACGGGTGAACAG	0.473													T	117626723	C	T	117626723	3	4	1	1	0	0	0	0	1	0	0	0	16716	527	19	1	2029	1	TTF2	1	117626723	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	134601	117626723	131623898	62	62											
SPAG17	200162	broad.mit.edu	37	chr1	118526507	118526508	+	Frame_Shift_Ins	INS	-	-	T													tctttgtaaaagaaggcagtINStttttggaaagactgtccag							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:118526506_118526507G>GT	uc001ehk.2	-	41	5867_5868	c.5799_5800C>AC	c.(5797-5802)aaactgfs	p.K1933fs	SPAG17_uc021osr.1_Frame_Shift_Ins_p.K443fs	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1933						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AAAGAAGGCAGTTTTTTGGAAA	0.312													T	118526508	-	T	118526507	7	5	1	1	0	1	1	0	0	0	0	0	14979	1722	60	0	900	0	SPAG17	1	118526507	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	899784	118526507	130724114	63	63											
ANKRD35	148741	broad.mit.edu	37	chr1	145558843	145558843	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatctgtgcaggatggacgTacacccctgatgatcgcatc	10	12	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:145558843T>C	uc001eob.1	+	7	570	c.462T>C	c.(460-462)CGT>CGC	p.R154R	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_5'UTR	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	154	ANK 4.									ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGATGGACGTACACCCCTGA	0.562													C	145558843	T	C	145558843	2	2	1	1	0	0	0	0	0	0	0	1	664	1625	57	3		3	ANKRD35	1	145558843	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	27032336	145558843	103691778	64	64											
CHD1L	9557	broad.mit.edu	37	chr1	146747814	146747814	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcgagacactgtggaagaaAtagtctataggaaagcagcc	12	7	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:146747814A>T	uc001epm.3	+	14	1495	c.1432A>T	c.(1432-1434)ATA>TTA	p.I478L	uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.I365L|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.I384L|CHD1L_uc010ozp.1_Missense_Mutation_p.I197L|CHD1L_uc001epo.3_Missense_Mutation_p.I274L|CHD1L_uc010ozq.1_Missense_Mutation_p.I51L|CHD1L_uc009wji.2_Missense_Mutation_p.I197L	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein	478	Helicase C-terminal.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.0487)					TGTGGAAGAAATAGTCTATAG	0.483													T	146747814	A	T	146747814	3	4	1	1	0	0	0	0	1	0	0	0	3324	101	4	5	1486	5	CHD1L	1	146747814	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1188971	146747814	102502807	65	65											
SF3B4	10262	broad.mit.edu	37	chr1	149899128	149899128	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagcctggagaaacagTtcccacagcagcggttcact	11	13	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:149899128T>A	uc001etj.1	-	2	144	c.93A>T	c.(91-93)GAA>GAT	p.E31D	SF3B4_uc001eti.1_5'Flank|SF3B4_uc001etk.1_Missense_Mutation_p.E31D|SF3B4_uc009wll.1_Missense_Mutation_p.E31D	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4	31	RRM 1.					nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GGAGAAACAGTTCCCACAGCA	0.542													A	149899128	T	A	149899128	3	1	1	1	0	0	0	0	1	0	0	0	14153	1722	60	5	1201	5	SF3B4	1	149899128	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	3151314	149899128	99351493	66	66											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150530959	150530959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccctcagtgctccgtgcGgtgcggccggggccagagaa	16	15	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:150530959G>A	uc001eux.2	+	15	2629	c.2393G>A	c.(2392-2394)CGG>CAG	p.R798Q	ADAMTSL4_uc001euw.2_Missense_Mutation_p.R798Q|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.R821Q|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.R759Q|ADAMTSL4_uc009wlx.2_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	798	TSP type-1 3.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGCTCCGTGCGGTGCGGCCGG	0.657													A	150530959	G	A	150530959	3	1	1	1	0	0	0	0	1	0	0	0	277	1116	39	1	2443	1	ADAMTSL4	1	150530959	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	631831	150530959	98719662	67	67											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150530983	150530983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccggggccagagaagccGgcaggttcgctgtgttggga	19	10	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:150530983G>A	uc001eux.2	+	15	2653	c.2417G>A	c.(2416-2418)CGG>CAG	p.R806Q	ADAMTSL4_uc001euw.2_Missense_Mutation_p.R806Q|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.R829Q|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.R767Q|ADAMTSL4_uc009wlx.2_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	806	TSP type-1 3.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CAGAGAAGCCGGCAGGTTCGC	0.662													A	150530983	G	A	150530983	3	1	1	1	0	0	0	0	1	0	0	0	277	1116	39	1	2467	1	ADAMTSL4	1	150530983	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	24	150530983	98719638	68	68											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150532582	150532582	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattgccccctggtggtacaGgcccggctctgcgtctaccc	11	17	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:150532582G>T	uc001eux.2	+	19	3371	c.3135G>T	c.(3133-3135)CAG>CAT	p.Q1045H	ADAMTSL4_uc009wlw.2_Missense_Mutation_p.Q1068H|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.Q1006H|ADAMTSL4_uc009wlx.2_Missense_Mutation_p.Q208H	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	1045	PLAC.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGGTGGTACAGGCCCGGCTCT	0.622											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	150532582	G	T	150532582	3	4	1	1	0	0	0	0	1	0	0	0	277	991	35	5	3276	5	ADAMTSL4	1	150532582	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1599	150532582	98718039	69	69											
KPRP	448834	broad.mit.edu	37	chr1	152733224	152733224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcttctgtccaccacggcGtcttgaccagtgtccagagt	10	13	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:152733224G>A	uc001fal.1	+	2	1218	c.1160G>A	c.(1159-1161)CGT>CAT	p.R387H		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	387	Pro-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACCACGGCGTCTTGACCAG	0.642													A	152733224	G	A	152733224	3	1	1	1	0	0	0	0	1	0	0	0	8436	1145	40	1	1162	1	KPRP	1	152733224	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2200642	152733224	96517397	70	70											
INTS3	65123	broad.mit.edu	37	chr1	153745538	153745538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccaatgccgaagaagagtCgggctccagcagtgcttcag	12	13	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:153745538C>T	uc009wom.2	+	30	3253	c.3032C>T	c.(3031-3033)TCG>TTG	p.S1011L	INTS3_uc001fct.2_Missense_Mutation_p.S1011L|INTS3_uc001fcu.2_Missense_Mutation_p.S703L|INTS3_uc001fcv.2_Missense_Mutation_p.S805L|INTS3_uc010peb.1_Missense_Mutation_p.S871L|INTS3_uc001fcw.2_Missense_Mutation_p.S524L|INTS3_uc010pec.1_Missense_Mutation_p.S524L|INTS3_uc001fcy.2_Missense_Mutation_p.S374L|INTS3_uc001fcx.2_Missense_Mutation_p.S308L	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	1012					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GAAGAAGAGTCGGGCTCCAGC	0.612													T	153745538	C	T	153745538	3	4	1	1	0	0	0	0	1	0	0	0	7779	893	31	1	3146	1	INTS3	1	153745538	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1012314	153745538	95505083	71	71											
ADAR	103	broad.mit.edu	37	chr1	154569663	154569663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcatggcttcctctgcgGccatctgctttgccactttc	7	16	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:154569663G>A	uc001ffh.2	-	5	2215	c.2015C>T	c.(2014-2016)GCC>GTC	p.A672V	ADAR_uc001ffj.2_Missense_Mutation_p.A672V|ADAR_uc001ffi.2_Missense_Mutation_p.A672V|ADAR_uc001ffk.2_Missense_Mutation_p.A377V	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	672	DRBM 2.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TTCCTCTGCGGCCATCTGCTT	0.532													A	154569663	G	A	154569663	3	1	1	1	0	0	0	0	1	0	0	0	281	1203	42	2	1709	2	ADAR	1	154569663	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	824125	154569663	94680958	72	72											
ZBTB7B	51043	broad.mit.edu	37	chr1	154987740	154987740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgttgcccgccgcagcCgcaagccccggaaagctttc	12	17	0	0	rs150590726		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:154987740C>T	uc001fgk.3	+	3	762	c.604C>T	c.(604-606)CGC>TGC	p.R202C	ZBTB7B_uc009wpa.2_Missense_Mutation_p.R202C|ZBTB7B_uc001fgj.3_Missense_Mutation_p.R236C|ZBTB7B_uc010peq.1_Missense_Mutation_p.R236C|ZBTB7B_uc001fgl.3_Missense_Mutation_p.R202C	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	202					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	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)			CCGCCGCAGCCGCAAGCCCCG	0.652													T	154987740	C	T	154987740	3	4	1	1	0	0	0	0	1	0	0	0	17551	652	23	1	606	1	ZBTB7B	1	154987740	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	418077	154987740	94262881	73	73											
DCST1	149095	broad.mit.edu	37	chr1	155015940	155015940	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggagtgggccctggggcTgctgcacgtgctgctctcct	16	13	1	0	rs141900210		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:155015940T>C	uc001fgn.1	+	10	1223	c.1127T>C	c.(1126-1128)CTG>CCG	p.L376P	DCST1_uc010per.1_Missense_Mutation_p.L401P|DCST1_uc010pes.1_Missense_Mutation_p.L351P	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1 isoform 1	376	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(1)|skin(1)	2	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GCCCTGGGGCTGCTGCACGTG	0.692													C	155015940	T	C	155015940	3	2	1	1	0	0	0	0	1	0	0	0	4302	1580	55	3	1161	3	DCST1	1	155015940	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	28200	155015940	94234681	74	74											
HCN3	57657	broad.mit.edu	37	chr1	155253807	155253807	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccagtgctgtggttcgcAtcttcaacctcattgggatg	12	10	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:155253807A>G	uc001fjz.1	+	3	759	c.751A>G	c.(751-753)ATC>GTC	p.I251V	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_5'UTR	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	251	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGTGGTTCGCATCTTCAACCT	0.577													G	155253807	A	G	155253807	3	3	1	1	0	0	0	0	1	0	0	0	6998	217	8	3	761	3	HCN3	1	155253807	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	237867	155253807	93996814	75	75											
PKLR	5313	broad.mit.edu	37	chr1	155263029	155263029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgaaggcagcctccacagCaccaatggcggtgacctcag	11	14	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:155263029C>T	uc001fkb.3	-	9	1414	c.1375G>A	c.(1375-1377)GCT>ACT	p.A459T	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.A428T	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	459			A -> V (in PKRD).		endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GCCTCCACAGCACCAATGGCG	0.612													T	155263029	C	T	155263029	3	4	1	1	0	0	0	0	1	0	0	0	11976	710	25	2	361	2	PKLR	1	155263029	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	9222	155263029	93987592	76	76											
RUSC1	23623	broad.mit.edu	37	chr1	155297994	155297994	+	Frame_Shift_Del	DEL	G	G	-													tgtgttggctcttgtgaagcGgggggcacctcccgagatgc							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:155297993_155297993CG>C	uc001fkj.2	+	8	2696	c.2467_2467CG>C	c.(2467-2469)cggfs	p.R823fs	RUSC1_uc001fkk.2_Frame_Shift_Del_p.R717fs|RUSC1_uc009wqo.1_Frame_Shift_Del_p.R354fs|RUSC1_uc001fkl.2_Frame_Shift_Del_p.R413fs|RUSC1_uc001fkp.2_Frame_Shift_Del_p.R354fs|RUSC1_uc010pgb.1_Frame_Shift_Del_p.R321fs|RUSC1_uc009wqp.1_Frame_Shift_Del_p.R348fs|RUSC1_uc001fko.2_Non-coding_Transcript|RUSC1_uc001fkn.2_Frame_Shift_Del_p.R132fs|RUSC1_uc001fkr.2_Frame_Shift_Del_p.R354fs	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Homo sapiens RUN and SH3 domain containing 1 (RUSC1), transcript variant 1, mRNA.	823						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TCTTGTGAAGCGGGGGGCACC	0.562													-	155297994	G	-	155297994	7	5	1	1	0	1	0	1	0	0	0	0	13750	1116	39	0	2629	0	RUSC1	1	155297994	Frame_Shift_Del	DEL	G	TCGA-B7-5816-01A-21D-1600-08	34965	155297994	93952627	77	77											
RUSC1	23623	broad.mit.edu	37	chr1	155300198	155300198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggctcccctcagggcaGtgcgggctctctgtgatcac	12	15	4	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:155300198G>A	uc001fkj.2	+	10	2774	c.2545G>A	c.(2545-2547)GTG>ATG	p.V849M	RAG1AP1_uc010pey.1_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.V743M|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_Missense_Mutation_p.V380M|RUSC1_uc001fkl.2_Missense_Mutation_p.V439M|RUSC1_uc001fkp.2_Missense_Mutation_p.V380M|RUSC1_uc001fkq.2_Missense_Mutation_p.V274M|RUSC1_uc010pgb.1_Missense_Mutation_p.V347M|RUSC1_uc009wqp.1_Missense_Mutation_p.V374M|RUSC1_uc001fkn.2_Missense_Mutation_p.V158M|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Missense_Mutation_p.V380M|RUSC1_uc001fks.2_Missense_Mutation_p.V116M	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	849	SH3.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCTCAGGGCAGTGCGGGCTCT	0.612													A	155300198	G	A	155300198	3	1	1	1	0	0	0	0	1	0	0	0	13750	1029	36	4	2710	4	RUSC1	1	155300198	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2204	155300198	93950423	78	78											
GON4L	54856	broad.mit.edu	37	chr1	155823178	155823178	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcctgagtgtcattttttTccctctctttgagccagtag	9	10	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:155823178T>C	uc001flz.2	-	2	491	c.394A>G	c.(394-396)AAA>GAA	p.K132E	GON4L_uc001fly.1_Missense_Mutation_p.K132E|GON4L_uc009wrh.1_Missense_Mutation_p.K132E|GON4L_uc001fma.1_Missense_Mutation_p.K132E|GON4L_uc001fmc.2_Missense_Mutation_p.K132E|GON4L_uc001fmd.3_Missense_Mutation_p.K132E|GON4L_uc009wri.2_5'UTR	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	132					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTCATTTTTTTCCCTCTCTTT	0.458													C	155823178	T	C	155823178	3	2	1	1	0	0	0	0	1	0	0	0	6572	1792	62	3	6569	3	GON4L	1	155823178	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	522980	155823178	93427443	79	79											
ARHGEF2	9181	broad.mit.edu	37	chr1	155931509	155931509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcgtggatgagtttgcGcctcagaagttcctctcggc	12	12	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:155931509G>A	uc001fmt.2	-	11	1529	c.1411C>T	c.(1411-1413)CGC>TGC	p.R471C	ARHGEF2_uc001fmr.2_Missense_Mutation_p.R443C|ARHGEF2_uc001fms.2_Missense_Mutation_p.R470C|ARHGEF2_uc001fmu.2_Missense_Mutation_p.R515C|ARHGEF2_uc010pgt.1_Missense_Mutation_p.R444C|ARHGEF2_uc010pgu.1_Missense_Mutation_p.R516C	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	471					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATGAGTTTGCGCCTCAGAAGT	0.602													A	155931509	G	A	155931509	3	1	1	1	0	0	0	0	1	0	0	0	903	1087	38	1	1597	1	ARHGEF2	1	155931509	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	108331	155931509	93319112	80	80											
IQGAP3	128239	broad.mit.edu	37	chr1	156507037	156507037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcatggcgaggaggttgcGtagggcgatgtccagtcgtc	17	8	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:156507037G>A	uc001fpf.2	-	27	3433	c.3358C>T	c.(3358-3360)CGC>TGC	p.R1120C		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1120	Ras-GAP.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGAGGTTGCGTAGGGCGATG	0.567													A	156507037	G	A	156507037	3	1	1	1	0	0	0	0	1	0	0	0	7816	1145	40	1	1585	1	IQGAP3	1	156507037	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	575528	156507037	92743584	81	81											
IQGAP3	128239	broad.mit.edu	37	chr1	156521764	156521764	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagctccagactatacttAcggtcagtctcttcctgggt	8	14	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:156521764A>G	uc001fpf.2	-	14	1645	c.1570_splice	c.e14+1	p.R524_splice	IQGAP3_uc009wsb.1_Splice_Site_p.R481_splice	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3						small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GACTATACTTACGGTCAGTCT	0.572													G	156521764	A	G	156521764	5	3	1	1	0	0	0	0	0	0	1	0	7816	405	14	3	3423	3	IQGAP3	1	156521764	Splice_Site	SNP	A	TCGA-B7-5816-01A-21D-1600-08	14727	156521764	92728857	82	82											
APOA1BP	128240	broad.mit.edu	37	chr1	156562163	156562164	+	Frame_Shift_Ins	INS	-	-	C													actctgccttcaggcatatcINScccccacgtccatgtccagg							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:156562162_156562163T>TC	uc001fph.3	+	2	336_337	c.297_298T>TC	c.(295-300)tatcccfs	p.Y99fs	APOA1BP_uc001fpi.3_Frame_Shift_Ins_p.Y99fs|APOA1BP_uc001fpk.3_5'UTR|APOA1BP_uc010php.1_5'UTR	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	Homo sapiens apolipoprotein A-I binding protein (APOA1BP), mRNA.	99	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCAGGCATATCCCCCCACGTC	0.589													C	156562164	-	C	156562163	7	5	1	1	0	1	1	0	0	0	0	0	781	855	30	0	308	0	APOA1BP	1	156562163	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	40399	156562163	92688458	83	83											
FCRL3	115352	broad.mit.edu	37	chr1	157665902	157665902	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctgcacagtagtatctccCtgcatcactctccttcacgg	7	15	4	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:157665902C>A	uc001frb.2	-	7	1352	c.1060G>T	c.(1060-1062)GGG>TGG	p.G354W	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.G354W|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.G80W|FCRL3_uc001frc.1_Missense_Mutation_p.G354W	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	354	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					TAGTATCTCCCTGCATCACTC	0.522													A	157665902	C	A	157665902	3	1	1	1	0	0	0	0	1	0	0	0	5796	681	24	5	1180	5	FCRL3	1	157665902	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1103739	157665902	91584719	84	84											
OR10J1	26476	broad.mit.edu	37	chr1	159410002	159410002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttattatgaacaagaggctgCgtatccaacttgtcctgggg	11	8	0	2	rs139843472	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:159410002C>T	uc010piv.1	+	1	454	c.454C>T	c.(454-456)CGT>TGT	p.R152C	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	152	Helical; Name=4; (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					CAAGAGGCTGCGTATCCAACT	0.498													T	159410002	C	T	159410002	3	4	1	1	0	0	0	0	1	0	0	0	10910	768	27	1	456	1	OR10J1	1	159410002	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1744100	159410002	89840619	85	85											
KCNJ10	3766	broad.mit.edu	37	chr1	160011355	160011355	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggctaaagtcagctatgTatttaccactggctgacagt	9	8	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:160011355T>C	uc001fuw.1	-	2	1118	c.968A>G	c.(967-969)TAC>TGC	p.Y323C		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	323	Cytoplasmic (By similarity).					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTCAGCTATGTATTTACCACT	0.532													C	160011355	T	C	160011355	3	2	1	1	0	0	0	0	1	0	0	0	8044	1638	57	3	175	3	KCNJ10	1	160011355	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	601353	160011355	89239266	86	86											
ARHGAP30	257106	broad.mit.edu	37	chr1	161022247	161022247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccctgtcctcagcccccCgtggaagtttacgcttagtc	8	16	1	0	rs149524176	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:161022247C>T	uc001fxl.2	-	8	1269	c.923G>A	c.(922-924)CGG>CAG	p.R308Q	ARHGAP30_uc001fxk.2_Missense_Mutation_p.R308Q|ARHGAP30_uc001fxm.2_Missense_Mutation_p.R154Q|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.R154Q	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	308					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTCAGCCCCCCGTGGAAGTTT	0.537													T	161022247	C	T	161022247	3	4	1	1	0	0	0	0	1	0	0	0	879	652	23	1	2402	1	ARHGAP30	1	161022247	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1010892	161022247	88228374	87	87											
USP21	27005	broad.mit.edu	37	chr1	161130687	161130687	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcccccttcgagcagatcAtggggttcccctgcctggct	12	15	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:161130687A>G	uc010pke.1	+	3	634	c.257A>G	c.(256-258)CAT>CGT	p.H86R	USP21_uc010pkc.1_Missense_Mutation_p.H86R|USP21_uc010pkd.1_Missense_Mutation_p.H86R|USP21_uc010pkf.1_Missense_Mutation_p.H86R	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21	86					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)|prostate(1)|breast(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CGAGCAGATCATGGGGTTCCC	0.637													G	161130687	A	G	161130687	3	3	1	1	0	0	0	0	1	0	0	0	17050	217	8	3	259	3	USP21	1	161130687	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	108440	161130687	88119934	88	88											
FCGR2A	2212	broad.mit.edu	37	chr1	161476270	161476270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggaatctcattcccaccCacacgcagcccagctacagg	8	16	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:161476270C>T	uc001gan.2	+	3	306	c.253C>T	c.(253-255)CAC>TAC	p.H85Y	FCGR2A_uc001gam.2_Missense_Mutation_p.H84Y|FCGR2A_uc001gao.2_RNA	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor	85	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CATTCCCACCCACACGCAGCC	0.597													T	161476270	C	T	161476270	3	4	1	1	0	0	0	0	1	0	0	0	5781	594	21	4	263	4	FCGR2A	1	161476270	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	345583	161476270	87774351	89	89											
OLFML2B	25903	broad.mit.edu	37	chr1	161953757	161953757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctgtgtgctcaggtccGcggcattgagcttgctcagg	13	12	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:161953757G>A	uc001gbu.2	-	8	2385	c.1961C>T	c.(1960-1962)GCG>GTG	p.A654V	OLFML2B_uc001gbt.2_Missense_Mutation_p.A137V|OLFML2B_uc010pkq.1_Missense_Mutation_p.A655V	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	654	Olfactomedin-like.									skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCTCAGGTCCGCGGCATTGAG	0.587													A	161953757	G	A	161953757	3	1	1	1	0	0	0	0	1	0	0	0	10858	1087	38	1	295	1	OLFML2B	1	161953757	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	477487	161953757	87296864	90	90											
LMX1A	4009	broad.mit.edu	37	chr1	165175203	165175203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggccaggagctgctgtgGggtgggcagagccgtgtagg	21	7	0	1	rs140864022		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:165175203G>A	uc001gcy.1	-	7	1107	c.886C>T	c.(886-888)CCA>TCA	p.P296S	LMX1A_uc001gcz.1_Missense_Mutation_p.P296S|LMX1A_uc001gcw.1_Missense_Mutation_p.P14S|LMX1A_uc001gcx.1_Missense_Mutation_p.P47S	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	296						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	all_hematologic(923;0.248)					AGCTGCTGTGGGGTGGGCAGA	0.577													A	165175203	G	A	165175203	3	1	1	1	0	0	0	0	1	0	0	0	8861	1232	43	4	270	4	LMX1A	1	165175203	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	3221446	165175203	84075418	91	91											
ALDH9A1	223	broad.mit.edu	37	chr1	165638218	165638219	+	Frame_Shift_Ins	INS	-	-	AT													atttgggatcttcaggtacaINStatatatctccaccacataa							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:165638217_165638218C>CAT	uc001gdh.1	-	7	1257_1258	c.1152_1153G>ATG	c.(1150-1155)tatgtafs	p.Y384fs	ALDH9A1_uc010pky.1_Frame_Shift_Ins_p.Y290fs|ALDH9A1_uc010pkz.1_Frame_Shift_Ins_p.Y374fs|ALDH9A1_uc010pla.1_Frame_Shift_Ins_p.Y290fs	NM_000696	NP_000687	P49189	AL9A1_HUMAN	Homo sapiens aldehyde dehydrogenase 9 family, member A1 (ALDH9A1), mRNA.	360					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity	p.D384D(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	TCTTCAGGTACATATATATCTC	0.312													AT	165638219	-	AT	165638218	7	5	1	1	0	1	1	0	0	0	0	0	506	224	8	0	420	0	ALDH9A1	1	165638218	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	463015	165638218	83612403	92	92											
ILDR2	387597	broad.mit.edu	37	chr1	166927191	166927191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccaaggattctcccatgCgatcctggcagtaggacttg	11	12	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:166927191C>T	uc001gdx.1	-	2	250	c.194G>A	c.(193-195)CGC>CAC	p.R65H		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	65	Ig-like V-type.|Extracellular (Potential).					integral to membrane				ovary(1)	1						TTCTCCCATGCGATCCTGGCA	0.557													T	166927191	C	T	166927191	3	4	1	1	0	0	0	0	1	0	0	0	7710	768	27	1	1761	1	ILDR2	1	166927191	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1288973	166927191	82323430	93	93											
SLC9A11	284525	broad.mit.edu	37	chr1	173526643	173526643	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcactaacaaaatagtaaGcaacctgtggagagggaaac	10	8	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:173526643G>T	uc001giz.2	-	10	1474	c.1051C>A	c.(1051-1053)CTT>ATT	p.L351I	SLC9A11_uc009wwe.2_5'UTR|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	351	Helical; (Potential).				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						AAAATAGTAAGCAACCTGTGG	0.299													T	173526643	G	T	173526643	3	4	1	1	0	0	0	0	1	0	0	0	14711	971	34	5	2399	5	SLC9A11	1	173526643	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	6599452	173526643	75723978	94	94											
RC3H1	149041	broad.mit.edu	37	chr1	173952672	173952672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgttcgttcacctaaagatCgagctgccctcatggcacga	9	13	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:173952672C>T	uc001gju.3	-	3	563	c.476G>A	c.(475-477)CGA>CAA	p.R159Q	RC3H1_uc010pms.1_Missense_Mutation_p.R159Q|RC3H1_uc001gjv.2_Missense_Mutation_p.R159Q|RC3H1_uc010pmt.1_Missense_Mutation_p.R159Q	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	159					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						ACCTAAAGATCGAGCTGCCCT	0.507													T	173952672	C	T	173952672	3	4	1	1	0	0	0	0	1	0	0	0	13166	884	31	1	2993	1	RC3H1	1	173952672	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	426029	173952672	75297949	95	95											
RABGAP1L	9910	broad.mit.edu	37	chr1	174219653	174219653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctgtacagcattcaaacGttcttccagacaagtgtctg	7	10	4	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:174219653G>A	uc001gjx.2	+	6	953	c.758G>A	c.(757-759)CGT>CAT	p.R253H	RABGAP1L_uc009wwq.1_Missense_Mutation_p.R253H|RABGAP1L_uc001gjw.2_Missense_Mutation_p.R216H|RABGAP1L_uc001gjy.2_5'UTR	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	253	PID.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4						GCATTCAAACGTTCTTCCAGA	0.373													A	174219653	G	A	174219653	3	1	1	1	0	0	0	0	1	0	0	0	12965	1145	40	1	776	1	RABGAP1L	1	174219653	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	266981	174219653	75030968	96	96											
TOR1AIP1	26092	broad.mit.edu	37	chr1	179886654	179886654	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggctacttcctctgatAgctgctcttgcctctgggag	12	11	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:179886654A>G	uc001gnq.2	+	10	1250	c.1032A>G	c.(1030-1032)ATA>ATG	p.I344M		NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	lamina-associated polypeptide 1B	344	Helical; (Potential).					integral to membrane|nuclear inner membrane				breast(1)|central_nervous_system(1)	2						TTCCTCTGATAGCTGCTCTTG	0.418													G	179886654	A	G	179886654	3	3	1	1	0	0	0	0	1	0	0	0	16369	410	15	3	1070	3	TOR1AIP1	1	179886654	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	5667001	179886654	69363967	97	97											
CACNA1E	777	broad.mit.edu	37	chr1	181680204	181680204	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcctggatagacaaagcAggtaggcctggggggctgca	17	9	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:181680204A>C	uc001gow.2	+	8	1335	c.1170A>C	c.(1168-1170)GCA>GCC	p.A390A	CACNA1E_uc009wxs.2_Silent_p.A297A	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	390	Cytoplasmic (Potential).|Binding to the beta subunit (By similarity).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TAGACAAAGCAGGTAGGCCTG	0.607													C	181680204	A	C	181680204	2	2	1	1	0	0	0	0	0	0	0	1	2542	202	7	5		5	CACNA1E	1	181680204	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1793550	181680204	67570417	98	98											
CACNA1E	777	broad.mit.edu	37	chr1	181721320	181721320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaccatcaagtctctgcGggtgctccgagttctaaggc	11	12	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:181721320G>A	uc001gow.2	+	27	3938	c.3773G>A	c.(3772-3774)CGG>CAG	p.R1258Q	CACNA1E_uc009wxs.2_Missense_Mutation_p.R1146Q|CACNA1E_uc001gox.1_Missense_Mutation_p.R484Q|CACNA1E_uc009wxt.2_Missense_Mutation_p.R484Q	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1258	III.|Helical; Name=S4 of repeat III.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						AAGTCTCTGCGGGTGCTCCGA	0.498													A	181721320	G	A	181721320	3	1	1	1	0	0	0	0	1	0	0	0	2542	1116	39	1	3879	1	CACNA1E	1	181721320	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	41116	181721320	67529301	99	99											
ZNF648	127665	broad.mit.edu	37	chr1	182026233	182026233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggagcactggtagggccGctcgcccgtgtgcaggcgcc	17	13	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:182026233G>A	uc001goz.2	-	2	1121	c.913C>T	c.(913-915)CGG>TGG	p.R305W		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGGTAGGGCCGCTCGCCCGTG	0.692													A	182026233	G	A	182026233	3	1	1	1	0	0	0	0	1	0	0	0	18060	1086	38	1	797	1	ZNF648	1	182026233	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	304913	182026233	67224388	100	100											
LAMC1	3915	broad.mit.edu	37	chr1	183072489	183072489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttgacatcacctatgtgCgtctcaagttccacaccagc	6	14	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:183072489C>T	uc001gpy.3	+	2	702	c.445C>T	c.(445-447)CGT>TGT	p.R149C	LAMC1_uc001gpx.2_Missense_Mutation_p.R149C	NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	149	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCTATGTGCGTCTCAAGTT	0.488													T	183072489	C	T	183072489	3	4	1	1	0	0	0	0	1	0	0	0	8614	768	27	1	451	1	LAMC1	1	183072489	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1046256	183072489	66178132	101	101											
C1orf25	81627	broad.mit.edu	37	chr1	185106736	185106736	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataatatataacttgaatttAccttctaccatattaccatc	1	9	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:185106736A>G	uc001grf.3	-	10	1785	c.1513_splice	c.e10+1	p.E505_splice	C1orf25_uc010pon.1_Splice_Site_p.E349_splice	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA							intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0						ACTTGAATTTACCTTCTACCA	0.318													G	185106736	A	G	185106736	5	3	1	1	0	0	0	0	0	0	1	0	2034	405	14	3	710	3	C1orf25	1	185106736	Splice_Site	SNP	A	TCGA-B7-5816-01A-21D-1600-08	2034247	185106736	64143885	102	102											
CFH	3075	broad.mit.edu	37	chr1	196709865	196709865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaggttttggaattgatGggcctgcaattgcaaaatgc	12	5	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:196709865G>A	uc001gtj.3	+	18	3139	c.2899G>A	c.(2899-2901)GGG>AGG	p.G967R		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	967	Sushi 16.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						TGGAATTGATGGGCCTGCAAT	0.363													A	196709865	G	A	196709865	3	1	1	1	0	0	0	0	1	0	0	0	3283	1348	47	4	2987	4	CFH	1	196709865	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	11603129	196709865	52540756	103	103											
CFHR5	81494	broad.mit.edu	37	chr1	196973799	196973799	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgttttccagagtctactGcatattgtgggccccctcca	9	13	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:196973799G>T	uc001gts.3	+	9	1467	c.1339G>T	c.(1339-1341)GCA>TCA	p.A447S		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	447	Sushi 8.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						AGAGTCTACTGCATATTGTGG	0.373													T	196973799	G	T	196973799	3	4	1	1	0	0	0	0	1	0	0	0	3288	1319	46	5	1373	5	CFHR5	1	196973799	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	263934	196973799	52276822	104	104											
C1orf53	388722	broad.mit.edu	37	chr1	197874962	197874962	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtggatccagctactggcTatgtggtgctcacacagatt	11	9	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:197874962T>C	uc001guh.2	+	2	399	c.301T>C	c.(301-303)TAT>CAT	p.Y101H		NM_001024594	NP_001019765	Q5VUE5	CA053_HUMAN	hypothetical protein LOC388722	101											0						AGCTACTGGCTATGTGGTGCT	0.423													C	197874962	T	C	197874962	3	2	1	1	0	0	0	0	1	0	0	0	2045	1522	53	3	307	3	C1orf53	1	197874962	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	901163	197874962	51375659	105	105											
ZNF281	23528	broad.mit.edu	37	chr1	200378080	200378080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacttggggagaggatggCaccttctccatctccaacca	10	13	2	2	rs149674415	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:200378080C>T	uc001gve.2	-	2	861	c.754G>A	c.(754-756)GCC>ACC	p.A252T	uc010ppi.1_5'Flank|ZNF281_uc001gvf.1_Missense_Mutation_p.A252T|ZNF281_uc001gvg.1_Missense_Mutation_p.A216T	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	252					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)	2						GAGAGGATGGCACCTTCTCCA	0.483													T	200378080	C	T	200378080	3	4	1	1	0	0	0	0	1	0	0	0	17815	710	25	2	1937	2	ZNF281	1	200378080	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2503118	200378080	48872541	106	106											
KIF14	9928	broad.mit.edu	37	chr1	200561223	200561223	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttactgtgatctctgtgccAtgagcaactcattttttgca	7	10	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:200561223A>G	uc010ppk.1	-	16	3237	c.2798T>C	c.(2797-2799)ATG>ACG	p.M933T	KIF14_uc010ppj.1_Missense_Mutation_p.M442T	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	933	Potential.|Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						TCTCTGTGCCATGAGCAACTC	0.383													G	200561223	A	G	200561223	3	3	1	1	0	0	0	0	1	0	0	0	8276	217	8	3	2208	3	KIF14	1	200561223	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	183143	200561223	48689398	107	107											
ELF3	1999	broad.mit.edu	37	chr1	201981268	201981269	+	Frame_Shift_Ins	INS	-	-	CT													ctgcgtctggtctttgggccINStctgggggaccaactccatg							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:201981267_201981268C>CCT	uc001gxg.4	+	1	3538_3539	c.346_347C>CCT	c.(346-348)cctfs	p.P116fs	ELF3_uc001gxi.4_Frame_Shift_Ins_p.P116fs|ELF3_uc001gxh.4_Frame_Shift_Ins_p.P116fs	NM_004433	NP_004424	P78545	ELF3_HUMAN	Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA.	116	PNT.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGTCTTTGGGCCTCTGGGGGAC	0.594													CT	201981269	-	CT	201981268	7	5	1	1	0	1	1	0	0	0	0	0	5055	681	24	0	353	0	ELF3	1	201981268	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	1420045	201981268	47269353	108	108											
TMEM183A	92703	broad.mit.edu	37	chr1	202976930	202976930	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggattacgccaactcggaTccggcggtcgtgaggtctgg	16	11	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:202976930T>C	uc001gyu.1	+	2	196	c.138T>C	c.(136-138)GAT>GAC	p.D46D	TMEM183A_uc009xai.1_Silent_p.D46D|TMEM183A_uc001gyv.1_RNA|TMEM183A_uc001gyw.1_Silent_p.D46D|TMEM183A_uc001gyx.1_Silent_p.D46D	NM_001079809	NP_001073277	Q8IXX5	T183A_HUMAN	transmembrane protein 183B	46						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(75;0.18)			CCAACTCGGATCCGGCGGTCG	0.582													C	202976930	T	C	202976930	2	2	1	1	0	0	0	0	0	0	0	1	16099	1432	50	3		3	TMEM183A	1	202976930	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	995662	202976930	46273691	109	109											
TMEM183A	92703	broad.mit.edu	37	chr1	202984028	202984028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttcagaagaactggacGgggctggaggagaagagtat	16	4	1	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:202984028G>A	uc001gyu.1	+	4	437	c.379G>A	c.(379-381)GGG>AGG	p.G127R	TMEM183A_uc009xai.1_Missense_Mutation_p.G127R|TMEM183A_uc001gyv.1_RNA|TMEM183A_uc001gyw.1_Missense_Mutation_p.G126R|TMEM183A_uc001gyx.1_Missense_Mutation_p.G126R	NM_001079809	NP_001073277	Q8IXX5	T183A_HUMAN	transmembrane protein 183B	127						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(75;0.18)			AGAACTGGACGGGGCTGGAGG	0.398													A	202984028	G	A	202984028	3	1	1	1	0	0	0	0	1	0	0	0	16099	1116	39	1	393	1	TMEM183A	1	202984028	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	7098	202984028	46266593	110	110											
ADORA1	134	broad.mit.edu	37	chr1	203097975	203097975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctgtgcccgccatgccGccctccatctcagctttcca	7	20	1	0	rs61731145	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:203097975G>A	uc001gze.1	+	3	439	c.6G>A	c.(4-6)CCG>CCA	p.P2P	ADORA1_uc001gzf.1_Silent_p.P2P|ADORA1_uc010pqg.1_5'UTR|ADORA1_uc009xak.1_Intron|ADORA1_uc010pqh.1_Intron	NM_000674	NP_000665	P30542	AA1R_HUMAN	adenosine A1 receptor	2	Extracellular (Potential).				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				large_intestine(1)	1					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CCGCCATGCCGCCCTCCATCT	0.662													A	203097975	G	A	203097975	2	1	1	1	0	0	0	0	0	0	0	1	326	1074	38	1		1	ADORA1	1	203097975	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	113947	203097975	46152646	111	111											
PM20D1	148811	broad.mit.edu	37	chr1	205814522	205814522	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacgctccaacccagagaaTgggggcacctcccagccttc	9	17	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:205814522T>C	uc001hdj.2	-	3	465	c.420A>G	c.(418-420)CCA>CCG	p.P140P	PM20D1_uc009xbr.2_RNA	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1 precursor	140						extracellular region	metal ion binding|peptidase activity			skin(1)	1	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			ACCCAGAGAATGGGGGCACCT	0.572													C	205814522	T	C	205814522	2	2	1	1	0	0	0	0	0	0	0	1	12128	1451	51	3		3	PM20D1	1	205814522	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	2716547	205814522	43436099	112	112											
RASSF5	83593	broad.mit.edu	37	chr1	206757987	206757987	+	Frame_Shift_Del	DEL	T	T	-													caatccccagaagtttgcacTttttaagcggatacacaagg							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:206757986_206757986CT>C	uc001hed.3	+	3	1015	c.958_958CT>C	c.(958-960)cttfs	p.L320fs	RASSF5_uc001hec.1_Frame_Shift_Del_p.L320fs|RASSF5_uc001hee.3_Frame_Shift_Del_p.L320fs|RASSF5_uc001hef.3_Frame_Shift_Del_p.L167fs|RASSF5_uc001heg.1_Frame_Shift_Del_p.L93fs|RASSF5_uc021pie.1_5'Flank	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 5 (RASSF5), transcript variant 1, mRNA.	320	Ras-associating.				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GAAGTTTGCACTTTTTAAGCG	0.522													-	206757987	T	-	206757987	7	5	1	1	0	1	0	1	0	0	0	0	13089	1609	56	0	1097	0	RASSF5	1	206757987	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	943465	206757987	42492634	113	113											
DYRK3	8444	broad.mit.edu	37	chr1	206821237	206821237	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggtctatgatcacaaacttCgacagtacgtggccctaaaa	9	10	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:206821237C>T	uc001hej.2	+	3	862	c.694C>T	c.(694-696)CGA>TGA	p.R232*	DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Nonsense_Mutation_p.R212*	NM_003582	NP_003573	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	232	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|central_nervous_system(1)	3	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TCACAAACTTCGACAGTACGT	0.468													T	206821237	C	T	206821237	4	4	1	1	0	0	0	0	0	1	0	0	4857	876	31	1	725	1	DYRK3	1	206821237	Nonsense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	63250	206821237	42429384	114	114											
CR2	1380	broad.mit.edu	37	chr1	207647197	207647197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacttccagctggttcacGtgtggagctagttaatacgt	11	8	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:207647197G>A	uc001hfw.2	+	11	2124	c.2030G>A	c.(2029-2031)CGT>CAT	p.R677H	CR2_uc001hfv.2_Missense_Mutation_p.R736H|CR2_uc009xch.2_Missense_Mutation_p.R677H	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	677	Sushi 11.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						GCTGGTTCACGTGTGGAGCTA	0.418													A	207647197	G	A	207647197	3	1	1	1	0	0	0	0	1	0	0	0	3842	1145	40	1	2253	1	CR2	1	207647197	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	825960	207647197	41603424	115	115											
CR1L	1379	broad.mit.edu	37	chr1	207870962	207870962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccggctacgacctcagagGatctacgtatttgcactgca	10	13	2	1	rs114605476	by1000genomes	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:207870962G>A	uc001hga.3	+	6	1098	c.977G>A	c.(976-978)GGA>GAA	p.G326E	CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	326	Sushi 5.					cytoplasm|extracellular region|membrane					0						GACCTCAGAGGATCTACGTAT	0.542													A	207870962	G	A	207870962	3	1	1	1	0	0	0	0	1	0	0	0	3841	1174	41	4	999	4	CR1L	1	207870962	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	223765	207870962	41379659	116	116											
PLXNA2	5362	broad.mit.edu	37	chr1	208390570	208390570	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagtgggagaccagggccAgggtgtctgaagggatcttg	17	7	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:208390570A>G	uc001hgz.2	-	2	1456	c.698T>C	c.(697-699)CTG>CCG	p.L233P	PLXNA2_uc001hha.3_Missense_Mutation_p.L287P	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	233	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACCAGGGCCAGGGTGTCTGA	0.557													G	208390570	A	G	208390570	3	3	1	1	0	0	0	0	1	0	0	0	12120	188	7	3	5110	3	PLXNA2	1	208390570	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	519608	208390570	40860051	117	117											
LAMB3	3914	broad.mit.edu	37	chr1	209797250	209797250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgatacatagtaaggagaCcattgaagcttctgtcaaga	9	7	3	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:209797250C>T	uc001hhg.2	-	14	2462	c.2072G>A	c.(2071-2073)GGT>GAT	p.G691D	LAMB3_uc009xco.2_Missense_Mutation_p.G691D|LAMB3_uc001hhh.2_Missense_Mutation_p.G691D|LAMB3_uc010psl.1_RNA|hsa-mir-4260|MI0015859_5'Flank	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	691	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGTAAGGAGACCATTGAAGCT	0.552													T	209797250	C	T	209797250	3	4	1	1	0	0	0	0	1	0	0	0	8612	507	18	4	1482	4	LAMB3	1	209797250	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1406680	209797250	39453371	118	118											
HHAT	55733	broad.mit.edu	37	chr1	210577992	210577992	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagtcttacacaatgggcCcatcctcagcttctcggagt	8	14	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:210577992C>A	uc009xcx.2	+	6	819	c.653C>A	c.(652-654)CCC>CAC	p.P218H	HHAT_uc010psq.1_Intron|HHAT_uc001hhz.3_Missense_Mutation_p.P218H|HHAT_uc010psr.1_Missense_Mutation_p.P219H|HHAT_uc010pss.1_Missense_Mutation_p.P173H|HHAT_uc009xcy.2_Missense_Mutation_p.P153H|HHAT_uc010pst.1_Missense_Mutation_p.P155H|HHAT_uc010psu.1_Missense_Mutation_p.P153H	NM_001122834	NP_001116306	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	218	Helical; (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CACAATGGGCCCATCCTCAGC	0.527													A	210577992	C	A	210577992	3	1	1	1	0	0	0	0	1	0	0	0	7089	623	22	5	769	5	HHAT	1	210577992	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	780742	210577992	38672629	119	119											
KCNH1	3756	broad.mit.edu	37	chr1	211192300	211192300	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtagttcatgcggataAgtttggggtcagaaatcacc	12	7	4	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:211192300A>C	uc001hib.2	-	6	1027	c.857T>G	c.(856-858)CTT>CGT	p.L286R	KCNH1_uc001hic.2_Missense_Mutation_p.L286R	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	286	Cytoplasmic (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CATGCGGATAAGTTTGGGGTC	0.443													C	211192300	A	C	211192300	3	2	1	1	0	0	0	0	1	0	0	0	8031	72	3	5	2136	5	KCNH1	1	211192300	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	614308	211192300	38058321	120	120											
PPP2R5A	5525	broad.mit.edu	37	chr1	212515580	212515580	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagccctgatttccagccTagcattgcaaaacgatacat	8	11	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:212515580T>C	uc001hjb.2	+	4	1105	c.531T>C	c.(529-531)CCT>CCC	p.P177P	PPP2R5A_uc010ptd.1_Silent_p.P118P	NM_006243	NP_006234	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B	177					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		ATTTCCAGCCTAGCATTGCAA	0.338													C	212515580	T	C	212515580	2	2	1	1	0	0	0	0	0	0	0	1	12392	1509	53	3		3	PPP2R5A	1	212515580	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1323280	212515580	36735041	121	121											
PARP1	142	broad.mit.edu	37	chr1	226555951	226555951	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcttcatcccaaagtcGtgggggatcagggtgtaaaa	13	8	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:226555951G>A	uc001hqd.3	-	16	2397	c.2226C>T	c.(2224-2226)CAC>CAT	p.H742H		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	742	PARP alpha-helical.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCCCAAAGTCGTGGGGGATCA	0.572								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					A	226555951	G	A	226555951	2	1	1	1	0	0	0	0	0	0	0	1	11454	1136	40	1		1	PARP1	1	226555951	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	14040371	226555951	22694670	122	122											
OBSCN	84033	broad.mit.edu	37	chr1	228400306	228400306	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacggtgtggaagaaggaCggccagctggtgaccgaggg	20	7	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:228400306C>T	uc009xez.1	+	2	866	c.822C>T	c.(820-822)GAC>GAT	p.D274D	OBSCN_uc001hsn.2_Silent_p.D274D|uc001hsm.1_RNA	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	274	Ig-like 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GGAAGAAGGACGGCCAGCTGG	0.677													T	228400306	C	T	228400306	2	4	1	1	0	0	0	0	0	0	0	1	10812	535	19	1		1	OBSCN	1	228400306	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1844355	228400306	20850315	123	123											
TAF5L	27097	broad.mit.edu	37	chr1	229730525	229730525	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagggtggaatttgacacagTccacatctgccaggtgtcct	11	10	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:229730525T>C	uc001htq.2	-	5	1455	c.1289A>G	c.(1288-1290)GAC>GGC	p.D430G		NM_014409	NP_055224	O75529	TAF5L_HUMAN	PCAF associated factor 65 beta isoform a	430	WD 4.				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			ovary(1)	1	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TTTGACACAGTCCACATCTGC	0.587													C	229730525	T	C	229730525	3	2	1	1	0	0	0	0	1	0	0	0	15526	1667	58	3	484	3	TAF5L	1	229730525	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1330219	229730525	19520096	124	124											
PGBD5	79605	broad.mit.edu	37	chr1	230492787	230492787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttctcgaagcgggcctgGctcatgacgagggcgaggct	15	11	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:230492787G>A	uc010pwb.1	-	2	405	c.405C>T	c.(403-405)AGC>AGT	p.S135S	PGBD5_uc001htv.2_Silent_p.S234S	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	135						integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AGCGGGCCTGGCTCATGACGA	0.617													A	230492787	G	A	230492787	2	1	1	1	0	0	0	0	0	0	0	1	11784	1194	42	2		2	PGBD5	1	230492787	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	762262	230492787	18757834	125	125											
CAPN9	10753	broad.mit.edu	37	chr1	230916357	230916357	+	Frame_Shift_Del	DEL	C	C	-													tctccgaccggttcaagctgCcccctggggagtacatcctg							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:230916356_230916356GC>G	uc001htz.1	+	10	1496	c.1383_1383GC>G	c.(1381-1383)ctgfs	p.L461fs	CAPN9_uc009xfg.1_Frame_Shift_Del_p.L398fs|CAPN9_uc001hua.1_Frame_Shift_Del_p.L435fs	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	461	Domain III.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GGTTCAAGCTGCCCCCTGGGG	0.502													-	230916357	C	-	230916357	7	5	1	1	0	1	0	1	0	0	0	0	2632	739	26	0	1426	0	CAPN9	1	230916357	Frame_Shift_Del	DEL	C	TCGA-B7-5816-01A-21D-1600-08	423570	230916357	18334264	126	126											
TSNAX	7257	broad.mit.edu	37	chr1	231700291	231700291	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagccctcctctgatgcacaGgataagcagtttggtacttg	10	11	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:231700291G>T	uc001huw.2	+	6	671	c.513G>T	c.(511-513)CAG>CAT	p.Q171H	TSNAX-DISC1_uc010pwe.1_Intron|TSNAX-DISC1_uc010pwf.1_Intron|TSNAX-DISC1_uc010pwg.1_Intron|TSNAX-DISC1_uc010pwh.1_Intron|TSNAX-DISC1_uc010pwi.1_Intron|TSNAX-DISC1_uc010pwj.1_Intron|TSNAX-DISC1_uc010pwk.1_Intron|TSNAX-DISC1_uc010pwl.1_Intron	NM_005999	NP_005990	Q99598	TSNAX_HUMAN	translin-associated factor X	171	Interaction with C1D.				cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding				0		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				CTGATGCACAGGATAAGCAGT	0.413													T	231700291	G	T	231700291	3	4	1	1	0	0	0	0	1	0	0	0	16628	991	35	5	535	5	TSNAX	1	231700291	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	783934	231700291	17550330	127	127											
LGALS8	3964	broad.mit.edu	37	chr1	236703909	236703909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctctatggccacaggatcGgcccagagaaaatagacact	10	11	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:236703909G>A	uc001hxz.1	+	6	772	c.391G>A	c.(391-393)GGC>AGC	p.G131S	LGALS8_uc001hxw.1_Missense_Mutation_p.G131S|LGALS8_uc001hxy.1_Missense_Mutation_p.G131S|LGALS8_uc009xgg.1_RNA|LGALS8_uc001hya.1_Missense_Mutation_p.G131S|LGALS8_uc001hyb.1_Missense_Mutation_p.G131S|LGALS8_uc001hyc.1_Intron	NM_201543	NP_963837	O00214	LEG8_HUMAN	galectin-8 isoform b	131	Galectin 1.					cytoplasm|extracellular space	sugar binding			ovary(1)	1	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CCACAGGATCGGCCCAGAGAA	0.463													A	236703909	G	A	236703909	3	1	1	1	0	0	0	0	1	0	0	0	8747	1116	39	1	405	1	LGALS8	1	236703909	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	5003618	236703909	12546712	128	128											
RYR2	6262	broad.mit.edu	37	chr1	237870288	237870288	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaagatgtttgtccaaAcataccgtctttggagaaac	10	7	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:237870288A>G	uc001hyl.1	+	68	9740	c.9620A>G	c.(9619-9621)AAC>AGC	p.N3207S	RYR2_uc010pxz.1_Missense_Mutation_p.N162S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3207					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTTGTCCAAACATACCGTCT	0.423													G	237870288	A	G	237870288	3	3	1	1	0	0	0	0	1	0	0	0	13769	43	2	3	9890	3	RYR2	1	237870288	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1166379	237870288	11380333	129	129											
EXO1	9156	broad.mit.edu	37	chr1	242048759	242048759	+	Frame_Shift_Del	DEL	G	G	-													cataatgccgagaacaagccGgggttacagatcaaactcaa							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:242048758_242048758CG>C	uc021plj.1	+	12	2668	c.2354_2354CG>C	c.(2353-2355)ccgfs	p.P785fs	EXO1_uc001hzh.3_Frame_Shift_Del_p.P785fs|EXO1_uc009xgq.3_Frame_Shift_Del_p.P784fs|EXO1_uc021plk.1_Frame_Shift_Del_p.P785fs	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	785	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	p.P785P(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GAGAACAAGCCGGGGTTACAG	0.428								Editing and processing nucleases					-	242048759	G	-	242048759	7	5	1	1	0	1	0	1	0	0	0	0	5300	1103	39	0	2401	0	EXO1	1	242048759	Frame_Shift_Del	DEL	G	TCGA-B7-5816-01A-21D-1600-08	4178471	242048759	7201862	130	130											
KIF26B	55083	broad.mit.edu	37	chr1	245809424	245809424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttctcccctgtggtagtGtctggaggtcgcagccgcct	12	13	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:245809424G>A	uc001ibf.1	+	10	2540	c.2100G>A	c.(2098-2100)ATG>ATA	p.M700I	KIF26B_uc010pyq.1_Missense_Mutation_p.M700I|KIF26B_uc001ibg.1_Missense_Mutation_p.M318I|KIF26B_uc001ibh.1_5'UTR	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	700	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTGTGGTAGTGTCTGGAGGTC	0.478													A	245809424	G	A	245809424	3	1	1	1	0	0	0	0	1	0	0	0	8295	1391	48	4	2138	4	KIF26B	1	245809424	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	3760665	245809424	3441197	131	131											
ZNF124	7678	broad.mit.edu	37	chr1	247319982	247319982	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacattcatagggtttctcTccagtatgagtcctttcatg	8	9	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:247319982T>C	uc001ick.2	-	4	1081	c.942A>G	c.(940-942)GGA>GGG	p.G314G	ZNF124_uc001ici.2_Intron|ZNF124_uc001icj.1_Silent_p.G252G	NM_003431	NP_003422	Q15973	ZN124_HUMAN	zinc finger protein 124	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			AGGGTTTCTCTCCAGTATGAG	0.398													C	247319982	T	C	247319982	2	2	1	1	0	0	0	0	0	0	0	1	17717	1538	54	3		3	ZNF124	1	247319982	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1510558	247319982	1930639	132	132											
OR2G3	81469	broad.mit.edu	37	chr1	247769393	247769393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccttgcaattgcctctctGtggcaaccataggctggacc	9	13	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:247769393G>A	uc010pyz.1	+	1	506	c.506G>A	c.(505-507)TGT>TAT	p.C169Y		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	169	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTGCCTCTCTGTGGCAACCAT	0.468													A	247769393	G	A	247769393	3	1	1	1	0	0	0	0	1	0	0	0	10999	1377	48	4	508	4	OR2G3	1	247769393	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	449411	247769393	1481228	133	133											
TRIM58	25893	broad.mit.edu	37	chr1	248028080	248028080	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctttctggcccaggaggAgcaacggcagctgaggcggc	17	11	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:248028080A>G	uc001ido.2	+	3	638	c.590A>G	c.(589-591)GAG>GGG	p.E197G		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	197	Potential.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCCAGGAGGAGCAACGGCAG	0.612													G	248028080	A	G	248028080	3	3	1	1	0	0	0	0	1	0	0	0	16528	304	11	3	600	3	TRIM58	1	248028080	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	258687	248028080	1222541	134	134											
TPO	7173	broad.mit.edu	37	chr2	1491722	1491722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagcaccttggatctggCgtccatcaacctgcagaggg	11	13	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:1491722C>T	uc002qww.2	+	10	1818	c.1727C>T	c.(1726-1728)GCG>GTG	p.A576V	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Intron|TPO_uc002qwr.2_Missense_Mutation_p.A576V|TPO_uc002qwx.2_Intron|TPO_uc010yio.1_Missense_Mutation_p.A403V|TPO_uc010yip.1_Missense_Mutation_p.A576V|TPO_uc002qwy.1_Intron|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	576	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.A576E(1)		ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTGGATCTGGCGTCCATCAAC	0.592													T	1491722	C	T	1491722	3	4	1	1	0	0	0	0	1	0	0	0	16407	768	27	1	1761	1	TPO	2	1491722	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08		1491722	241707651	135	135											
TPO	7173	broad.mit.edu	37	chr2	1544475	1544475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacctcaccgcagcgggccGcagctcaggactcggagcag	15	15	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:1544475G>A	uc002qww.2	+	16	2819	c.2728G>A	c.(2728-2730)GCA>ACA	p.A910T	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.A853T|TPO_uc002qwr.2_Missense_Mutation_p.A910T|TPO_uc002qwx.2_Missense_Mutation_p.A853T|TPO_uc010yio.1_Missense_Mutation_p.A737T|TPO_uc010yip.1_Missense_Mutation_p.A866T|TPO_uc002qwy.1_Missense_Mutation_p.A206T|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	910	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCAGCGGGCCGCAGCTCAGGA	0.642													A	1544475	G	A	1544475	3	1	1	1	0	0	0	0	1	0	0	0	16407	1087	38	1	2786	1	TPO	2	1544475	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	52753	1544475	241654898	136	136											
PXDN	7837	broad.mit.edu	37	chr2	1670060	1670060	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacgcatactctccgctgTccccctgtacgacgttctgt	8	16	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:1670060T>C	uc002qxa.2	-	10	1281	c.1217A>G	c.(1216-1218)GAC>GGC	p.D406G	PXDN_uc002qxb.1_Missense_Mutation_p.D406G|PXDN_uc002qxc.1_Missense_Mutation_p.D223G	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	406	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTCTCCGCTGTCCCCCTGTAC	0.582													C	1670060	T	C	1670060	3	2	1	1	0	0	0	0	1	0	0	0	12847	1667	58	3	3278	3	PXDN	2	1670060	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	125585	1670060	241529313	137	137											
MBOAT2	129642	broad.mit.edu	37	chr2	9017244	9017244	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatggtatgatctgccttcAatgaaagtaatgtagtcttt	8	5	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:9017244A>G	uc002qzg.1	-	7	739	c.606T>C	c.(604-606)ATT>ATC	p.I202I	MBOAT2_uc010yix.1_Silent_p.I202I	NM_138799	NP_620154	Q6ZWT7	MBOA2_HUMAN	O-acyltransferase (membrane bound) domain	202	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATCTGCCTTCAATGAAAGTAA	0.418													G	9017244	A	G	9017244	2	3	1	1	0	0	0	0	0	0	0	1	9357	126	5	3		3	MBOAT2	2	9017244	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	7347184	9017244	234182129	138	138											
ASAP2	8853	broad.mit.edu	37	chr2	9541417	9541417	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acccagaccaagttgaagccTaagcgggtgaaagcgctcta	11	11	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:9541417T>A	uc002qzh.2	+	27	3178	c.2838T>A	c.(2836-2838)CCT>CCA	p.P946P	ASAP2_uc002qzi.2_Silent_p.P901P	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	946	SH3.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						AGTTGAAGCCTAAGCGGGTGA	0.597													A	9541417	T	A	9541417	2	1	1	1	0	0	0	0	0	0	0	1	1011	1509	53	5		5	ASAP2	2	9541417	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	524173	9541417	233657956	139	139											
GRHL1	29841	broad.mit.edu	37	chr2	10101557	10101557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagaccttcaaggaaggcGttcaggaggtaaggaaacaa	13	7	2	1	rs140278187		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:10101557G>A	uc002raa.2	+	4	832	c.661G>A	c.(661-663)GTT>ATT	p.V221I	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Silent_p.A57A|GRHL1_uc010yjb.1_Missense_Mutation_p.V70I	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	221					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CAAGGAAGGCGTTCAGGAGGT	0.463													A	10101557	G	A	10101557	3	1	1	1	0	0	0	0	1	0	0	0	6763	1145	40	1	675	1	GRHL1	2	10101557	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	560140	10101557	233097816	140	140											
ODC1	4953	broad.mit.edu	37	chr2	10581771	10581771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttcaggcaggtcacagcGctcaacaatccgatcgaggc	10	13	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:10581771G>A	uc010exg.1	-	11	1539	c.1105C>T	c.(1105-1107)CGC>TGC	p.R369C	ODC1_uc002ran.1_Missense_Mutation_p.R55C|ODC1_uc002rao.1_Missense_Mutation_p.R369C|ODC1_uc010yjd.1_Missense_Mutation_p.R239C	NM_002539	NP_002530	P11926	DCOR_HUMAN	ornithine decarboxylase 1	369					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	AGGTCACAGCGCTCAACAATC	0.478													A	10581771	G	A	10581771	3	1	1	1	0	0	0	0	1	0	0	0	10825	1087	38	1	288	1	ODC1	2	10581771	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	480214	10581771	232617602	141	141											
C2orf50	130813	broad.mit.edu	37	chr2	11284096	11284096	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccatgtgcctctcttttcGgacacagttcccagttccac	7	15	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:11284096G>A	uc010yji.1	+	3	630	c.348G>A	c.(346-348)TCG>TCA	p.S116S	C2orf50_uc010yjj.1_Silent_p.S116S	NM_182500	NP_872306	Q96LR7	CB050_HUMAN	hypothetical protein LOC130813	116											0	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		CTCTCTTTTCGGACACAGTTC	0.572													A	11284096	G	A	11284096	2	1	1	1	0	0	0	0	0	0	0	1	2172	1103	39	1		1	C2orf50	2	11284096	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	702325	11284096	231915277	142	142											
OSR1	130497	broad.mit.edu	37	chr2	19553341	19553341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatccaccaagctggacaCcgtgcccggcactttggaga	11	15	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:19553341C>T	uc002rdc.2	-	2	529	c.226G>A	c.(226-228)GTG>ATG	p.V76M		NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN	odd-skipped related 1	76					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AAGCTGGACACCGTGCCCGGC	0.627													T	19553341	C	T	19553341	3	4	1	1	0	0	0	0	1	0	0	0	11293	507	18	4	582	4	OSR1	2	19553341	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	8269245	19553341	223646032	143	143											
OSR1	130497	broad.mit.edu	37	chr2	19553481	19553481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaaggcactgtgggcaggCcgttcactgcctgaaggaag	15	11	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:19553481C>T	uc002rdc.2	-	2	389	c.86G>A	c.(85-87)GGC>GAC	p.G29D		NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN	odd-skipped related 1	29					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				TGTGGGCAGGCCGTTCACTGC	0.607													T	19553481	C	T	19553481	3	4	1	1	0	0	0	0	1	0	0	0	11293	739	26	2	722	2	OSR1	2	19553481	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	140	19553481	223645892	144	144											
PUM2	23369	broad.mit.edu	37	chr2	20511272	20511272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttaaaatctttgcaatcGgcatccattccatttggcaa	5	10	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:20511272G>A	uc002rds.1	-	4	524	c.501C>T	c.(499-501)GCC>GCT	p.A167A	PUM2_uc002rdt.1_Silent_p.A167A|PUM2_uc002rdr.2_Silent_p.A106A|PUM2_uc010yjy.1_Silent_p.A167A|PUM2_uc002rdu.1_Silent_p.A167A|PUM2_uc010yjz.1_Silent_p.A106A	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	167	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTGCAATCGGCATCCATTC	0.338													A	20511272	G	A	20511272	2	1	1	1	0	0	0	0	0	0	0	1	12826	1103	39	1		1	PUM2	2	20511272	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	957791	20511272	222688101	145	145											
PUM2	23369	broad.mit.edu	37	chr2	20511425	20511425	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttcagcatctctagtgccCtgaggaaaaagaatctgttt	9	8	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:20511425C>A	uc002rds.1	-	4	372	c.349_splice	c.e4-1	p.G117_splice	PUM2_uc002rdt.1_Splice_Site_p.G117_splice|PUM2_uc002rdr.2_Splice_Site_p.G56_splice|PUM2_uc010yjy.1_Splice_Site_p.G117_splice|PUM2_uc002rdu.1_Splice_Site_p.G117_splice|PUM2_uc010yjz.1_Splice_Site_p.G56_splice	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2						regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTAGTGCCCTGAGGAAAAA	0.388													A	20511425	C	A	20511425	5	1	1	1	0	0	0	0	0	0	1	0	12826	695	24	5	2914	5	PUM2	2	20511425	Splice_Site	SNP	C	TCGA-B7-5816-01A-21D-1600-08	153	20511425	222687948	146	146											
APOB	338	broad.mit.edu	37	chr2	21234948	21234948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgatattcagaacgcaGcagtgcattttgcttagaga	10	8	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:21234948G>A	uc002red.2	-	26	4920	c.4792C>T	c.(4792-4794)CTG>TTG	p.L1598L		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1598					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCAGAACGCAGCAGTGCATTT	0.408													A	21234948	G	A	21234948	2	1	1	1	0	0	0	0	0	0	0	1	785	962	34	2		2	APOB	2	21234948	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	723523	21234948	221964425	147	147											
ASXL2	55252	broad.mit.edu	37	chr2	25976450	25976450	+	Frame_Shift_Del	DEL	T	T	-													tgttctttccatggctccacTtttttctccttctcaatctc							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:25976449_25976449CT>C	uc002rgs.2	-	9	1317	c.1096_1096AG>G	c.(1096-1098)gtgfs	p.V366fs	ASXL2_uc002rgt.1_Frame_Shift_Del_p.V106fs	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGGCTCCACTTTTTTCTCC	0.363													-	25976450	T	-	25976450	7	5	1	1	0	1	0	1	0	0	0	0	1067	1606	56	0	3224	0	ASXL2	2	25976450	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	4741502	25976450	217222923	148	148											
OTOF	9381	broad.mit.edu	37	chr2	26683875	26683875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgcgccccgcgggaaccGgttcaggtccagctcgatgg	14	14	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:26683875G>A	uc002rhk.2	-	44	5684	c.5557C>T	c.(5557-5559)CGG>TGG	p.R1853W	OTOF_uc010yla.1_Missense_Mutation_p.R583W|OTOF_uc002rhh.2_Missense_Mutation_p.R1086W|OTOF_uc002rhi.2_Missense_Mutation_p.R1163W|OTOF_uc002rhj.2_Missense_Mutation_p.R1086W	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1853	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCGGGAACCGGTTCAGGTCC	0.662													A	26683875	G	A	26683875	3	1	1	1	0	0	0	0	1	0	0	0	11303	1115	39	1	633	1	OTOF	2	26683875	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	707425	26683875	216515498	149	149											
CAD	790	broad.mit.edu	37	chr2	27461031	27461031	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcagcgctcagtgcacatAtgtcacgtggcacggaagga	12	11	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:27461031A>G	uc002rji.2	+	30	4998	c.4836A>G	c.(4834-4836)ATA>ATG	p.I1612M	CAD_uc010eyw.2_Missense_Mutation_p.I1549M	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1612	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CAGTGCACATATGTCACGTGG	0.577													G	27461031	A	G	27461031	3	3	1	1	0	0	0	0	1	0	0	0	2565	439	16	3	4954	3	CAD	2	27461031	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	777156	27461031	215738342	150	150											
SLC8A1	6546	broad.mit.edu	37	chr2	40656250	40656250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgacctcgtgcatgctgaCagccttccttgcttggtcag	11	12	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:40656250C>T	uc002rrx.2	-	1	1195	c.1171G>A	c.(1171-1173)GTC>ATC	p.V391I	SLC8A1_uc002rry.2_Missense_Mutation_p.V391I|SLC8A1_uc002rrz.2_Missense_Mutation_p.V391I|SLC8A1_uc002rsa.2_Missense_Mutation_p.V391I|SLC8A1_uc002rsd.3_Missense_Mutation_p.V391I|SLC8A1_uc002rsb.1_Missense_Mutation_p.V391I|SLC8A1_uc010fan.1_Missense_Mutation_p.V391I|SLC8A1_uc002rsc.1_Missense_Mutation_p.V391I	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	391	Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGCATGCTGACAGCCTTCCTT	0.453													T	40656250	C	T	40656250	3	4	1	1	0	0	0	0	1	0	0	0	14706	478	17	4	1898	4	SLC8A1	2	40656250	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	13195219	40656250	202543123	151	151											
EML4	27436	broad.mit.edu	37	chr2	42508059	42508059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattccttccgatgttgacaActatgatgacatcagaacgg	8	10	1	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:42508059A>G	uc002rsi.2	+	7	999	c.737A>G	c.(736-738)AAC>AGC	p.N246S	EML4_uc010fap.2_Missense_Mutation_p.N188S	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	246					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(246)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						GATGTTGACAACTATGATGAC	0.413			T	ALK	NSCLC								G	42508059	A	G	42508059	3	3	1	1	0	0	0	0	1	0	0	0	5099	43	2	3	763	3	EML4	2	42508059	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1851809	42508059	200691314	152	152											
PLEKHH2	130271	broad.mit.edu	37	chr2	43958648	43958648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctcagatatggagacaCcccactttgtgtcacagtaa	8	12	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:43958648C>T	uc010yny.1	+	19	2933	c.2850C>T	c.(2848-2850)CAC>CAT	p.H950H	PLEKHH2_uc002rtf.3_Silent_p.H949H	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	950						cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TATGGAGACACCCCACTTTGT	0.358													T	43958648	C	T	43958648	2	4	1	1	0	0	0	0	0	0	0	1	12077	506	18	4		4	PLEKHH2	2	43958648	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1450589	43958648	199240725	153	153											
PRKCE	5581	broad.mit.edu	37	chr2	46378253	46378253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgatgtacgagatgatggCtggacagcctccctttgagg	14	9	0	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:46378253C>T	uc002rut.2	+	13	2002	c.1805C>T	c.(1804-1806)GCT>GTT	p.A602V		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	602	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			GAGATGATGGCTGGACAGCCT	0.582													T	46378253	C	T	46378253	3	4	1	1	0	0	0	0	1	0	0	0	12511	797	28	2	1855	2	PRKCE	2	46378253	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2419605	46378253	196821120	154	154											
LHCGR	3973	broad.mit.edu	37	chr2	48925908	48925908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactctaggccatagctcgGcagggcctgcaatttggtgg	15	10	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:48925908G>A	uc002rwu.3	-	9	782	c.712C>T	c.(712-714)CCG>TCG	p.P238S	GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	238	Extracellular (Potential).|LRR 6.				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|lung(2)|breast(2)|skin(1)	8		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CCATAGCTCGGCAGGGCCTGC	0.353									Familial_Male-Limited_Precocious_Puberty				A	48925908	G	A	48925908	3	1	1	1	0	0	0	0	1	0	0	0	8762	1203	42	2	1399	2	LHCGR	2	48925908	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2547655	48925908	194273465	155	155											
PSME4	23198	broad.mit.edu	37	chr2	54125493	54125493	+	Splice_Site	DEL	T	T	-													taccaaattttcatagttccTttaaaaaaaaggtgaggtat							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:54125492_54125492CT>C	uc002rxp.2	-	30	3479	c.3423_splice	c.e30-1	p.R1141_splice	PSME4_uc010yop.1_Splice_Site_p.R1027_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site_p.R516_splice|PSME4_uc010fbv.1_Splice_Site_p.R285_splice	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1141					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTCATAGTTCCTTTAAAAAAA	0.303													-	54125493	T	-	54125493	8	5	1	1	0	1	0	1	0	0	1	0	12709	1623	56	0	2178	0	PSME4	2	54125493	Splice_Site	DEL	T	TCGA-B7-5816-01A-21D-1600-08	5199585	54125493	189073880	156	156											
SPTBN1	6711	broad.mit.edu	37	chr2	54856269	54856269	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctgtcctcggacgattaCgggaaagacctgaccagcgt	11	12	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:54856269C>T	uc002rxu.2	+	14	2247	c.1998C>T	c.(1996-1998)TAC>TAT	p.Y666Y	SPTBN1_uc002rxv.1_Silent_p.Y666Y|SPTBN1_uc002rxx.2_Silent_p.Y653Y	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	666	Spectrin 4.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			CGGACGATTACGGGAAAGACC	0.602													T	54856269	C	T	54856269	2	4	1	1	0	0	0	0	0	0	0	1	15118	547	19	1		1	SPTBN1	2	54856269	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	730776	54856269	188343104	157	157											
CCDC88A	55704	broad.mit.edu	37	chr2	55561622	55561622	+	Frame_Shift_Del	DEL	T	T	-													ttcactctctaattgctggaTttttttattgctgttctcta							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:55561621_55561621AT>A	uc002ryv.2	-	14	3178	c.2336_2336AT>T	c.(2335-2337)atcfs	p.I779fs	CCDC88A_uc010ypa.1_Frame_Shift_Del_p.I779fs|CCDC88A_uc010yoz.1_Frame_Shift_Del_p.I779fs|CCDC88A_uc010ypb.1_Frame_Shift_Del_p.I681fs|CCDC88A_uc002ryu.2_Frame_Shift_Del_p.I62fs|CCDC88A_uc002ryw.3_Frame_Shift_Del_p.I62fs	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	779					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.I779fs*7(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TAATTGCTGGATTTTTTTATT	0.328													-	55561622	T	-	55561622	7	5	1	1	0	1	0	1	0	0	0	0	2863	1493	52	0	3352	0	CCDC88A	2	55561622	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	705353	55561622	187637751	158	158											
EFEMP1	2202	broad.mit.edu	37	chr2	56145129	56145129	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggtatcctccatagtggTtgacacacttcattccacct	7	12	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:56145129T>C	uc002rzh.2	-	4	518	c.188A>G	c.(187-189)AAC>AGC	p.N63S	EFEMP1_uc002rzi.2_Missense_Mutation_p.N63S|EFEMP1_uc002rzj.2_Missense_Mutation_p.N63S|EFEMP1_uc010ypc.1_Missense_Mutation_p.N5S	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	63	EGF-like 1; atypical.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCCATAGTGGTTGACACACTT	0.438													C	56145129	T	C	56145129	3	2	1	1	0	0	0	0	1	0	0	0	4941	1725	60	3	1325	3	EFEMP1	2	56145129	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	583507	56145129	187054244	159	159											
EFEMP1	2202	broad.mit.edu	37	chr2	56149565	56149565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcatagttaggaaaaggGctttcaacattgtgaatctc	9	7	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:56149565G>A	uc002rzh.2	-	2	341	c.11C>T	c.(10-12)GCC>GTC	p.A4V	EFEMP1_uc002rzi.2_Missense_Mutation_p.A4V|EFEMP1_uc002rzj.2_Missense_Mutation_p.A4V|EFEMP1_uc010ypc.1_5'UTR	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	4					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TAGGAAAAGGGCTTTCAACAT	0.433													A	56149565	G	A	56149565	3	1	1	1	0	0	0	0	1	0	0	0	4941	1203	42	2	1510	2	EFEMP1	2	56149565	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	4436	56149565	187049808	160	160											
VRK2	7444	broad.mit.edu	37	chr2	58386659	58386659	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctccatcttggtataaatAcacttccacagtcagcacgg	6	12	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:58386659A>G	uc002rzo.2	+	16	2103	c.1358A>G	c.(1357-1359)TAC>TGC	p.Y453C	VRK2_uc010fcb.2_3'UTR|VRK2_uc002rzs.2_3'UTR|VRK2_uc002rzr.2_3'UTR|VRK2_uc010fcc.2_Missense_Mutation_p.Y335C|VRK2_uc002rzv.2_Missense_Mutation_p.Y453C|VRK2_uc010fcd.2_Missense_Mutation_p.Y430C|VRK2_uc002rzp.2_Missense_Mutation_p.Y453C|VRK2_uc010ypg.1_Missense_Mutation_p.Y453C|VRK2_uc002rzq.2_3'UTR|VRK2_uc002rzu.2_3'UTR|VRK2_uc002rzt.2_Missense_Mutation_p.Y335C|FANCL_uc002rzw.3_3'UTR|FANCL_uc002rzx.3_3'UTR|FANCL_uc010fce.2_3'UTR	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	vaccinia related kinase 2 isoform 2	453						integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1						TGGTATAAATACACTTCCACA	0.393													G	58386659	A	G	58386659	3	3	1	1	0	0	0	0	1	0	0	0	17217	391	14	3	1417	3	VRK2	2	58386659	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	2237094	58386659	184812714	161	161											
BCL11A	53335	broad.mit.edu	37	chr2	60687881	60687881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggaccactaatatggggCgtgctccctccacttcccgt	9	17	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:60687881C>T	uc002sae.1	-	4	2394	c.2166G>A	c.(2164-2166)ACG>ACA	p.T722T	BCL11A_uc002sab.2_Silent_p.T722T|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Silent_p.T391T|BCL11A_uc010ypj.1_Silent_p.T688T|BCL11A_uc002sad.1_Silent_p.T570T|BCL11A_uc002saf.1_Silent_p.T688T	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	722					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TAATATGGGGCGTGCTCCCTC	0.632			T	IGH@	B-CLL								T	60687881	C	T	60687881	2	4	1	1	0	0	0	0	0	0	0	1	1363	755	27	1		1	BCL11A	2	60687881	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2301222	60687881	182511492	162	162											
REL	5966	broad.mit.edu	37	chr2	61144153	61144153	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacccaatttatgacaaccGtaagtacttcattttcttat	4	9	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:61144153G>A	uc002sam.1	+	5	759	c.535_splice	c.e5+1	p.R179_splice	REL_uc002san.1_Splice_Site_p.R179_splice	NM_002908	NP_002899	Q04864	REL_HUMAN	v-rel reticuloendotheliosis viral oncogene						positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TATGACAACCGTAAGTACTTC	0.274			A		Hodgkin Lymphoma								A	61144153	G	A	61144153	5	1	1	1	0	0	0	0	0	0	1	0	13215	1159	40	1	554	1	REL	2	61144153	Splice_Site	SNP	G	TCGA-B7-5816-01A-21D-1600-08	456272	61144153	182055220	163	163											
USP34	9736	broad.mit.edu	37	chr2	61577527	61577527	+	Splice_Site	DEL	A	A	-													ggatgccaagtacagtgtctAaaaaaaagagggagagattt							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:61577526_61577526TA>T	uc002sbe.3	-	12	1400	c.1378_splice	c.e12-1	p.T460_splice		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	460					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTACAGTGTCTAAAAAAAAGA	0.338													-	61577527	A	-	61577527	8	5	1	1	0	1	0	1	0	0	1	0	17062	377	13	0		0	USP34	2	61577527	Splice_Site	DEL	A	TCGA-B7-5816-01A-21D-1600-08	433374	61577527	181621846	164	164											
USP34	9736	broad.mit.edu	37	chr2	61607348	61607348	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcatagtcaaagtaggtgAcataaagtacttaaatgcaa	7	7	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:61607348A>G	uc002sbe.2	-	7	992	c.970T>C	c.(970-972)TCA>CCA	p.S324P		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	324					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			AAAGTAGGTGACATAAAGTAC	0.348													G	61607348	A	G	61607348	3	3	1	1	0	0	0	0	1	0	0	0	17062	275	10	3	9966	3	USP34	2	61607348	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	29821	61607348	181592025	165	165											
ATP6V1B1	525	broad.mit.edu	37	chr2	71189974	71189975	+	Frame_Shift_Ins	INS	-	-	A													ccttgcctaccagtgtgagaINSagcatgtgctggtcatactg							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:71189973_71189974G>GA	uc002shj.3	+	8	939_940	c.852_853G>GA	c.(850-855)gagaagfs	p.E284fs	ATP6V1B1_uc010fdx.3_Frame_Shift_Ins_p.E242fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	284					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.E284D(2)		endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						ACCAGTGTGAGAAGCATGTGCT	0.579													A	71189975	-	A	71189974	7	5	1	1	0	1	1	0	0	0	0	0	1178	247	9	0	887	0	ATP6V1B1	2	71189974	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	9582626	71189974	172009399	166	166											
MCEE	84693	broad.mit.edu	37	chr2	71337204	71337204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctcttcacttagactgcGgatcttcttttttttcaaat	5	10	5	1	rs138436961	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:71337204G>A	uc002shs.2	-	3	472	c.427C>T	c.(427-429)CGC>TGC	p.R143C		NM_032601	NP_115990	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase precursor	143					fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity			ovary(1)	1						CTTAGACTGCGGATCTTCTTT	0.378													A	71337204	G	A	71337204	3	1	1	1	0	0	0	0	1	0	0	0	9377	1116	39	1	107	1	MCEE	2	71337204	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	147230	71337204	171862169	167	167											
DYSF	8291	broad.mit.edu	37	chr2	71883367	71883367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaacaccttcaagctgtacCggggcaagacgcaggaggag	14	10	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:71883367C>T	uc002sie.2	+	42	4961	c.4585C>T	c.(4585-4587)CGG>TGG	p.R1529W	DYSF_uc010feg.2_Missense_Mutation_p.R1560W|DYSF_uc010feh.2_Missense_Mutation_p.R1536W|DYSF_uc002sig.3_Missense_Mutation_p.R1515W|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R1550W|DYSF_uc010fef.2_Missense_Mutation_p.R1567W|DYSF_uc010fei.2_Missense_Mutation_p.R1546W|DYSF_uc010fek.2_Missense_Mutation_p.R1547W|DYSF_uc010fej.2_Missense_Mutation_p.R1537W|DYSF_uc010fel.2_Missense_Mutation_p.R1516W|DYSF_uc010feo.2_Missense_Mutation_p.R1561W|DYSF_uc010fem.2_Missense_Mutation_p.R1551W|DYSF_uc010fen.2_Missense_Mutation_p.R1568W|DYSF_uc002sif.2_Missense_Mutation_p.R1530W|DYSF_uc010yqy.1_Missense_Mutation_p.R410W|DYSF_uc010yqz.1_Missense_Mutation_p.R290W	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1529	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CAAGCTGTACCGGGGCAAGAC	0.498													T	71883367	C	T	71883367	3	4	1	1	0	0	0	0	1	0	0	0	4859	643	23	1	5010	1	DYSF	2	71883367	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	546163	71883367	171316006	168	168											
CCT7	10574	broad.mit.edu	37	chr2	73477494	73477494	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttcattctccgtggcggCgccgagcagtttatggagga	13	11	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:73477494C>T	uc002siz.2	+	10	1233	c.1131C>T	c.(1129-1131)GGC>GGT	p.G377G	CCT7_uc002sja.2_Silent_p.G173G|CCT7_uc010yrf.1_Silent_p.G333G|CCT7_uc010feu.2_Silent_p.G335G|CCT7_uc010yrg.1_Silent_p.G277G|CCT7_uc010yrh.1_Silent_p.G249G|CCT7_uc010yri.1_Silent_p.G290G	NM_006429	NP_006420	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 isoform a	377					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding				0						TCCGTGGCGGCGCCGAGCAGT	0.522													T	73477494	C	T	73477494	2	4	1	1	0	0	0	0	0	0	0	1	2959	755	27	1		1	CCT7	2	73477494	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1594127	73477494	169721879	169	169											
FBXO41	150726	broad.mit.edu	37	chr2	73493774	73493774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctggcctcccgcgccgcCgtctccttcaggaactggtc	12	18	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:73493774C>T	uc002sjb.1	-	3	1125	c.1125G>A	c.(1123-1125)ACG>ACA	p.T375T		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	314	Potential.					intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						CCCGCGCCGCCGTCTCCTTCA	0.667													T	73493774	C	T	73493774	2	4	1	1	0	0	0	0	0	0	0	1	5750	639	23	1		1	FBXO41	2	73493774	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	16280	73493774	169705599	170	170											
ALMS1	7840	broad.mit.edu	37	chr2	73680416	73680416	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaatccaggatgcagaaaaTagtgctaaaactcttaagga	9	6	1	1	rs45483291		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:73680416T>C	uc002sje.1	+	10	6876	c.6765T>C	c.(6763-6765)AAT>AAC	p.N2255N	ALMS1_uc002sjf.1_Silent_p.N2211N|ALMS1_uc002sjg.2_Silent_p.N1641N|ALMS1_uc002sjh.1_Silent_p.N1641N	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2253					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						ATGCAGAAAATAGTGCTAAAA	0.403													C	73680416	T	C	73680416	2	2	1	1	0	0	0	0	0	0	0	1	535	1403	49	3		3	ALMS1	2	73680416	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	186642	73680416	169518957	171	171											
ALMS1	7840	broad.mit.edu	37	chr2	73800081	73800081	+	Frame_Shift_Del	DEL	A	A	-													ataaaaatacaggcgagcttAaaaaaagcaaggtgctttct							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:73800080_73800080TA>T	uc002sje.1	+	15	11184	c.11073_11073TA>T	c.(11071-11073)cttfs	p.L3691fs	ALMS1_uc002sjf.1_Frame_Shift_Del_p.L3649fs|ALMS1_uc002sjg.3_Frame_Shift_Del_p.L3079fs|ALMS1_uc002sjh.1_Frame_Shift_Del_p.L3079fs	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	3691					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAGGCGAGCTTAAAAAAAGCA	0.363													-	73800081	A	-	73800081	7	5	1	1	0	1	0	1	0	0	0	0	535	363	13	0	11136	0	ALMS1	2	73800081	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	119665	73800081	169399292	172	172											
WBP1	23559	broad.mit.edu	37	chr2	74687543	74687543	+	Frame_Shift_Del	DEL	C	C	-													tgtttcctcccaccagagtgCcccccctcatcaggagggtg							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:74687542_74687542GC>G	uc002slj.2	+	3	747	c.544_544GC>G	c.(544-546)gccfs	p.A182fs	INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002sll.2_Non-coding_Transcript	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	Homo sapiens WW domain binding protein 1 (WBP1), mRNA.	182							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCACCAGAGTGCCCCCCCTCA	0.602													-	74687543	C	-	74687543	7	5	1	1	0	1	0	1	0	0	0	0	17254	739	26	0	559	0	WBP1	2	74687543	Frame_Shift_Del	DEL	C	TCGA-B7-5816-01A-21D-1600-08	887462	74687543	168511830	173	173											
LRRTM4	80059	broad.mit.edu	37	chr2	77745589	77745589	+	Frame_Shift_Del	DEL	T	T	-													gtctttcagactctctggccTttttccgccgcctcttcata							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:77745588_77745588CT>C	uc002snr.3	-	2	1822	c.1407_1407AG>G	c.(1405-1407)aagfs	p.K469fs	LRRTM4_uc002snq.3_Frame_Shift_Del_p.K469fs|LRRTM4_uc002sns.2_Frame_Shift_Del_p.K469fs|LRRTM4_uc002snt.2_Frame_Shift_Del_p.K470fs	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	469						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ACTCTCTGGCCTTTTTCCGCC	0.453													-	77745589	T	-	77745589	7	5	1	1	0	1	0	1	0	0	0	0	9042	1609	56	0	380	0	LRRTM4	2	77745589	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	3058046	77745589	165453784	174	174											
ST3GAL5	8869	broad.mit.edu	37	chr2	86067345	86067345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaagaggaacttggtttcCgttgtcacattatgcatggt	10	6	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:86067345C>T	uc002sqq.1	-	7	1308	c.1179G>A	c.(1177-1179)ACG>ACA	p.T393T	ST3GAL5_uc010fgq.1_Silent_p.T212T|ST3GAL5_uc002sqp.1_Silent_p.T370T	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	393	Lumenal (Potential).				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity				0						ACTTGGTTTCCGTTGTCACAT	0.428													T	86067345	C	T	86067345	2	4	1	1	0	0	0	0	0	0	0	1	15217	639	23	1		1	ST3GAL5	2	86067345	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	8321756	86067345	157132028	175	175											
POLR1A	25885	broad.mit.edu	37	chr2	86279961	86279961	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaggtgaagcctctgtagaGctgcaggtaggcggtgaaga	16	7	1	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:86279961G>T	uc002sqs.2	-	16	2750	c.2371C>A	c.(2371-2373)CTC>ATC	p.L791I	POLR1A_uc010ytb.1_Missense_Mutation_p.L157I	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	791					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						CCTCTGTAGAGCTGCAGGTAG	0.652													T	86279961	G	T	86279961	3	4	1	1	0	0	0	0	1	0	0	0	12209	971	34	5	2867	5	POLR1A	2	86279961	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	212616	86279961	156919412	176	176											
VPS24	51652	broad.mit.edu	37	chr2	86733008	86733008	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatcctctgaggcagccatCgctcctggaggttctggctc	11	14	3	1	rs140879959	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:86733008C>T	uc002srj.2	-	6	717	c.588G>A	c.(586-588)GCG>GCA	p.A196A	VPS24_uc002srk.2_Silent_p.A130A|VPS24_uc002srl.2_Silent_p.A156A|VPS24_uc010ytl.1_Silent_p.A225A	NM_016079	NP_057163	Q9Y3E7	CHMP3_HUMAN	vacuolar protein sorting 24 isoform 1	196	Potential.|Intramolecular interaction with N- terminus.|Interaction with STAMBP.|Interaction with VPS4A.			Missing: Membrane association; releases autoinhibition.	cell cycle|cell division|cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			central_nervous_system(1)	1						AGGCAGCCATCGCTCCTGGAG	0.602													T	86733008	C	T	86733008	2	4	1	1	0	0	0	0	0	0	0	1	17192	871	31	1		1	VPS24	2	86733008	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	453047	86733008	156466365	177	177											
SMYD1	150572	broad.mit.edu	37	chr2	88409944	88409944	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgtactacaagatgcgCgaggctgccctgaacaacca	9	12	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:88409944C>T	uc002ssr.2	+	10	1388	c.1386C>T	c.(1384-1386)CGC>CGT	p.R462R	SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Silent_p.R158R	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						ACAAGATGCGCGAGGCTGCCC	0.567													T	88409944	C	T	88409944	2	4	1	1	0	0	0	0	0	0	0	1	14821	755	27	1		1	SMYD1	2	88409944	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1676936	88409944	154789429	178	178											
EIF2AK3	9451	broad.mit.edu	37	chr2	88870468	88870468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcattggggtcagaaccGtctgctcttcctcatcctgg	11	13	4	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:88870468G>A	uc002stc.3	-	14	3111	c.2909C>T	c.(2908-2910)ACG>ATG	p.T970M		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	970	Cytoplasmic (Potential).|Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GGTCAGAACCGTCTGCTCTTC	0.468													A	88870468	G	A	88870468	3	1	1	1	0	0	0	0	1	0	0	0	4998	1145	40	1	457	1	EIF2AK3	2	88870468	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	460524	88870468	154328905	179	179											
CNNM3	26505	broad.mit.edu	37	chr2	97483049	97483049	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagcatcatgcagagcggCcacacgcgcatcccggtgta	12	15	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:97483049C>A	uc002swy.2	+	1	1059	c.1035C>A	c.(1033-1035)GGC>GGA	p.G345G	CNNM3_uc002swz.2_Silent_p.G345G	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	cyclin M3 isoform 1	345	CBS 1.				ion transport	integral to membrane|plasma membrane	protein binding			ovary(1)	1						TGCAGAGCGGCCACACGCGCA	0.642													A	97483049	C	A	97483049	2	1	1	1	0	0	0	0	0	0	0	1	3614	726	26	5		5	CNNM3	2	97483049	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	8612581	97483049	145716324	180	180											
SEMA4C	54910	broad.mit.edu	37	chr2	97529534	97529534	+	Splice_Site	DEL	G	G	-													tgagcagccagccgtctcctGgggggtgcagaggagaaggt							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:97529533_97529533TG>T	uc002sxg.4	-	10	1721	c.1490_splice	c.e10-1	p.G497_splice	SEMA4C_uc002sxf.4_5'Flank|SEMA4C_uc002sxe.3_5'Flank|SEMA4C_uc002sxh.4_Splice_Site_p.G444_splice	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	444	Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AGCCGTCTCCTGGGGGGTGCA	0.632													-	97529534	G	-	97529534	8	5	1	1	0	1	0	1	0	0	1	0	14033	1363	47	0		0	SEMA4C	2	97529534	Splice_Site	DEL	G	TCGA-B7-5816-01A-21D-1600-08	46485	97529534	145669839	181	181											
INPP4A	3631	broad.mit.edu	37	chr2	99203982	99203982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caatgaagaatgttggaagtCgcaaatatgcatttaattcc	8	6	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:99203982C>T	uc002syy.2	+	26	3238	c.2845C>T	c.(2845-2847)CGC>TGC	p.R949C	INPP4A_uc010yvk.1_Missense_Mutation_p.R910C|INPP4A_uc002syx.2_Missense_Mutation_p.R944C|INPP4A_uc010fik.2_Missense_Mutation_p.R278C	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type 1	949					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			kidney(1)	1						TGTTGGAAGTCGCAAATATGC	0.423													T	99203982	C	T	99203982	3	4	1	1	0	0	0	0	1	0	0	0	7752	884	31	1	3124	1	INPP4A	2	99203982	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1674448	99203982	143995391	182	182											
MITD1	129531	broad.mit.edu	37	chr2	99785845	99785846	+	Frame_Shift_Ins	INS	-	-	T													ggctaccacccatcatatatINStttttgtatgcttcttatga							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:99785844_99785845A>AT	uc002szs.1	-	6	791_792	c.743_744T>AT	c.(742-744)aatfs	p.N248fs	MRPL30_uc002szl.1_Intron|MRPL30_uc002szr.3_Intron	NM_138798	NP_620153	Q8WV92	MITD1_HUMAN	Homo sapiens MIT, microtubule interacting and transport, domain containing 1 (MITD1), mRNA.	248					protein transport	late endosome membrane				large_intestine(3)|lung(2)|ovary(1)	6						CCCATCATATATTTTTTGTATG	0.267													T	99785846	-	T	99785845	7	5	1	1	0	1	1	0	0	0	0	0	9595	1493	52	0	10	0	MITD1	2	99785845	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	581863	99785845	143413528	183	183											
RPL31	6160	broad.mit.edu	37	chr2	101620636	101620636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggggcttcaagaagcgtGcacctcgggcactcaaagag	14	10	2	2	rs148930940		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:101620636G>A	uc002taq.3	+	3	211	c.124G>A	c.(124-126)GCA>ACA	p.A42T	RPL31_uc002tar.3_Missense_Mutation_p.A42T|RPL31_uc010yvu.1_Missense_Mutation_p.A42T|RPL31_uc010yvv.1_Missense_Mutation_p.A42T|RPL31_uc010fiu.1_Missense_Mutation_p.A42T|RPL31_uc002tas.1_Missense_Mutation_p.A42T|RPL31_uc002tat.1_Missense_Mutation_p.A42T	NM_000993	NP_000984	P62899	RL31_HUMAN	ribosomal protein L31 isoform 1	42					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0						CAAGAAGCGTGCACCTCGGGC	0.408													A	101620636	G	A	101620636	3	1	1	1	0	0	0	0	1	0	0	0	13581	1319	46	2	130	2	RPL31	2	101620636	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1834791	101620636	141578737	184	184											
TMEM182	130827	broad.mit.edu	37	chr2	103414327	103414327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggggtctccagtttacCgtggtttctgggcagtcctg	13	11	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:103414327C>T	uc010fjb.2	+	4	524	c.337C>T	c.(337-339)CGT>TGT	p.R113C	TMEM182_uc002tcc.3_Missense_Mutation_p.R70C|TMEM182_uc002tcd.3_Missense_Mutation_p.R17C|TMEM182_uc010ywe.1_RNA	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN	transmembrane protein 182 precursor	113	Extracellular (Potential).					integral to membrane					0						TCCAGTTTACCGTGGTTTCTG	0.458													T	103414327	C	T	103414327	3	4	1	1	0	0	0	0	1	0	0	0	16098	652	23	1	351	1	TMEM182	2	103414327	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1793691	103414327	139785046	185	185											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105924566	105924566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctgcagctgtttggtggCagtgaacgtggctggcccag	15	10	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:105924566C>T	uc002tcq.2	-	2	277	c.193G>A	c.(193-195)GCC>ACC	p.A65T	TGFBRAP1_uc002tcr.3_Missense_Mutation_p.A65T	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor	65	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|skin(1)	2						TGTTTGGTGGCAGTGAACGTG	0.612													T	105924566	C	T	105924566	3	4	1	1	0	0	0	0	1	0	0	0	15821	710	25	2	2433	2	TGFBRAP1	2	105924566	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2510239	105924566	137274807	186	186											
GCC2	9648	broad.mit.edu	37	chr2	109086795	109086795	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgaaaaagtcaaacactTagaagataccttaaaagaac	5	6	1	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:109086795T>C	uc002tec.2	+	6	1164	c.1010T>C	c.(1009-1011)TTA>TCA	p.L337S	GCC2_uc002ted.2_Missense_Mutation_p.L236S	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	337	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						GTCAAACACTTAGAAGATACC	0.299													C	109086795	T	C	109086795	3	2	1	1	0	0	0	0	1	0	0	0	6286	1764	61	3	1032	3	GCC2	2	109086795	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	3162229	109086795	134112578	187	187											
CLASP1	23332	broad.mit.edu	37	chr2	122217561	122217561	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgcagtccttaccccaaCgtgatacaagcctcccgcac	6	18	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:122217561C>T	uc002tnc.2	-	12	1563	c.1173G>A	c.(1171-1173)ACG>ACA	p.T391T	CLASP1_uc002tna.2_5'Flank|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Silent_p.T391T|CLASP1_uc010yza.1_Silent_p.T391T|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Silent_p.T391T	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	391					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)					CTTACCCCAACGTGATACAAG	0.458													T	122217561	C	T	122217561	2	4	1	1	0	0	0	0	0	0	0	1	3454	523	19	1		1	CLASP1	2	122217561	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	13130766	122217561	120981812	188	188											
CNTNAP5	129684	broad.mit.edu	37	chr2	125530475	125530475	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacaaccaatggcactatgTccgggctgagaggaacctca	11	11	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:125530475T>C	uc002tno.2	+	17	2994	c.2630T>C	c.(2629-2631)GTC>GCC	p.V877A	CNTNAP5_uc010flu.2_Missense_Mutation_p.V878A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	877	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGCACTATGTCCGGGCTGAG	0.552													C	125530475	T	C	125530475	3	2	1	1	0	0	0	0	1	0	0	0	3650	1667	58	3	2696	3	CNTNAP5	2	125530475	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	3312914	125530475	117668898	189	189											
CNTNAP5	129684	broad.mit.edu	37	chr2	125530547	125530547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggagcaccagggagacgtCggaggagggccattttcgac	16	9	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:125530547C>T	uc002tno.2	+	17	3066	c.2702C>T	c.(2701-2703)TCG>TTG	p.S901L	CNTNAP5_uc010flu.2_Missense_Mutation_p.S902L	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	901	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGGGAGACGTCGGAGGAGGGC	0.532													T	125530547	C	T	125530547	3	4	1	1	0	0	0	0	1	0	0	0	3650	893	31	1	2768	1	CNTNAP5	2	125530547	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	72	125530547	117668826	190	190											
ZRANB3	84083	broad.mit.edu	37	chr2	135965210	135965210	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgacatttcagagagcaaaAccgtgaatcccaagagttcg	9	10	1	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:135965210A>G	uc002tum.2	-	19	2920	c.2803T>C	c.(2803-2805)TTT>CTT	p.F935L	ZRANB3_uc002tuk.2_Missense_Mutation_p.F478L|ZRANB3_uc002tul.2_Missense_Mutation_p.F933L	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	935						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)		AGAGAGCAAAACCGTGAATCC	0.443													G	135965210	A	G	135965210	3	3	1	1	0	0	0	0	1	0	0	0	18221	43	2	3	448	3	ZRANB3	2	135965210	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	10434663	135965210	107234163	191	191											
LCT	3938	broad.mit.edu	37	chr2	136547160	136547160	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggctggtggagacaagcGtgaggccctgtagcggggtc	18	10	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:136547160G>A	uc002tuu.1	-	16	5555	c.5544C>T	c.(5542-5544)CAC>CAT	p.H1848H		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1848	Extracellular (Potential).				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGAGACAAGCGTGAGGCCCTG	0.567													A	136547160	G	A	136547160	2	1	1	1	0	0	0	0	0	0	0	1	8693	1136	40	1		1	LCT	2	136547160	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	581950	136547160	106652213	192	192											
LCT	3938	broad.mit.edu	37	chr2	136567247	136567247	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatctctttcgaacttgggTtggctggagaacttttccca	9	9	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:136567247T>C	uc002tuu.1	-	8	2681	c.2670A>G	c.(2668-2670)CAA>CAG	p.Q890Q		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	890	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		CGAACTTGGGTTGGCTGGAGA	0.507													C	136567247	T	C	136567247	2	2	1	1	0	0	0	0	0	0	0	1	8693	1722	60	3		3	LCT	2	136567247	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	20087	136567247	106632126	193	193											
LRP1B	53353	broad.mit.edu	37	chr2	141081496	141081496	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taacgatgagatatcaaaacAccttttgttttatcaatatt	4	6	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:141081496A>G	uc002tvj.1	-	81	13452	c.12480T>C	c.(12478-12480)GGT>GGC	p.G4160G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4160	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATATCAAAACACCTTTTGTTT	0.269										TSP Lung(27;0.18)			G	141081496	A	G	141081496	2	3	1	1	0	0	0	0	0	0	0	1	8955	146	6	3		3	LRP1B	2	141081496	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	4514249	141081496	102117877	194	194											
LRP1B	53353	broad.mit.edu	37	chr2	141081540	141081540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctaagtactctactgaacCatggccaaatttttgaactc	6	10	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:141081540C>T	uc002tvj.1	-	81	13408	c.12436G>A	c.(12436-12438)GGT>AGT	p.G4146S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4146	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTACTGAACCATGGCCAAAT	0.299										TSP Lung(27;0.18)			T	141081540	C	T	141081540	3	4	1	1	0	0	0	0	1	0	0	0	8955	594	21	4	1407	4	LRP1B	2	141081540	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	44	141081540	102117833	195	195											
LRP1B	53353	broad.mit.edu	37	chr2	141291695	141291695	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatggcttgaagcctcttcGacagcttctgttttcttata	8	10	3	1	rs140801406		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:141291695G>A	uc002tvj.1	-	47	8629	c.7657C>T	c.(7657-7659)CGA>TGA	p.R2553*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2553	Extracellular (Potential).|LDL-receptor class A 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R2553*(1)		lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGCCTCTTCGACAGCTTCTG	0.353										TSP Lung(27;0.18)			A	141291695	G	A	141291695	4	1	1	1	0	0	0	0	0	1	0	0	8955	1066	37	1	6322	1	LRP1B	2	141291695	Nonsense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	210155	141291695	101907678	196	196											
LRP1B	53353	broad.mit.edu	37	chr2	141356315	141356315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttggagtgagtatgtctGtactgaccaccacttgagca	10	9	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:141356315G>A	uc002tvj.1	-	43	8051	c.7079C>T	c.(7078-7080)ACA>ATA	p.T2360I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2360	Extracellular (Potential).|LDL-receptor class B 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGTATGTCTGTACTGACCAC	0.388										TSP Lung(27;0.18)			A	141356315	G	A	141356315	3	1	1	1	0	0	0	0	1	0	0	0	8955	1377	48	4	6916	4	LRP1B	2	141356315	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	64620	141356315	101843058	197	197											
LRP1B	53353	broad.mit.edu	37	chr2	141526896	141526896	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttcatgaacagagtacaTaagaaatgattctataccta	5	8	2	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:141526896T>C	uc002tvj.1	-	35	6616	c.5644A>G	c.(5644-5646)ATG>GTG	p.M1882V		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1882	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAGAGTACATAAGAAATGAT	0.378										TSP Lung(27;0.18)			C	141526896	T	C	141526896	3	2	1	1	0	0	0	0	1	0	0	0	8955	1406	49	3	8383	3	LRP1B	2	141526896	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	170581	141526896	101672477	198	198											
GALNT5	11227	broad.mit.edu	37	chr2	158156134	158156134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttggaacatacgaccctgGccttgatgtttggggtgggg	15	8	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:158156134G>A	uc002tzg.2	+	6	2327	c.2072G>A	c.(2071-2073)GGC>GAC	p.G691D	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	691	Catalytic subdomain B.|Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4						TACGACCCTGGCCTTGATGTT	0.363													A	158156134	G	A	158156134	3	1	1	1	0	0	0	0	1	0	0	0	6216	1203	42	2	2094	2	GALNT5	2	158156134	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	16629238	158156134	85043239	199	199											
GCG	2641	broad.mit.edu	37	chr2	163003887	163003887	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcttggtattcatcaacCactgcacaaaatcttgggca	6	12	4	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:163003887C>A	uc002ucc.2	-	3	329	c.230G>T	c.(229-231)TGG>TTG	p.W77L		NM_002054	NP_002045	P01275	GLUC_HUMAN	glucagon preproprotein	77					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity				0					Exenatide(DB01276)|Phentolamine(DB00692)	ATTCATCAACCACTGCACAAA	0.423													A	163003887	C	A	163003887	3	1	1	1	0	0	0	0	1	0	0	0	6290	595	21	5	328	5	GCG	2	163003887	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	4847753	163003887	80195486	200	200											
STK39	27347	broad.mit.edu	37	chr2	168997200	168997200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccaacatggggtgccaaCgaatgtttttcttactttat	7	9	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:168997200C>T	uc002uea.2	-	6	857	c.697G>A	c.(697-699)GTT>ATT	p.V233I		NM_013233	NP_037365	Q9UEW8	STK39_HUMAN	serine threonine kinase 39 (STE20/SPS1 homolog,	233	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2						GGGGTGCCAACGAATGTTTTT	0.373													T	168997200	C	T	168997200	3	4	1	1	0	0	0	0	1	0	0	0	15304	536	19	1	992	1	STK39	2	168997200	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	5993313	168997200	74202173	201	201											
DFNB59	494513	broad.mit.edu	37	chr2	179320750	179320750	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attttagaaaaattaactttGaccacagcttgatacgtcag	6	7	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:179320750G>A	uc002umi.3	+	4	777	c.421G>A	c.(421-423)GAC>AAC	p.D141N	DFNB59_uc002umj.3_Missense_Mutation_p.D141N	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	141					sensory perception of sound						0			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AATTAACTTTGACCACAGCTT	0.373													A	179320750	G	A	179320750	3	1	1	1	0	0	0	0	1	0	0	0	4456	1290	45	4	431	4	DFNB59	2	179320750	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	10323550	179320750	63878623	202	202											
TTN	7273	broad.mit.edu	37	chr2	179429562	179429562	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaataattttggtgcctccAtcattcactggctcatgcca	6	13	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:179429562A>G	uc010zfg.1	-	275	73817	c.73593T>C	c.(73591-73593)GAT>GAC	p.D24531D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.D18226D|TTN_uc010zfi.1_Silent_p.D18159D|TTN_uc010zfj.1_Silent_p.D18034D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25458							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTGCCTCCATCATTCACTG	0.393													G	179429562	A	G	179429562	2	3	1	1	0	0	0	0	0	0	0	1	16732	214	8	3		3	TTN	2	179429562	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	108812	179429562	63769811	203	203											
TTN	7273	broad.mit.edu	37	chr2	179434797	179434797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccaatcagacgcttatgGcatcttgtccatctaatgcc	6	13	4	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:179434797G>A	uc010zfg.1	-	275	68582	c.68358C>T	c.(68356-68358)TGC>TGT	p.C22786C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.C16481C|TTN_uc010zfi.1_Silent_p.C16414C|TTN_uc010zfj.1_Silent_p.C16289C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23713							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACGCTTATGGCATCTTGTCC	0.423													A	179434797	G	A	179434797	2	1	1	1	0	0	0	0	0	0	0	1	16732	1195	42	2		2	TTN	2	179434797	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	5235	179434797	63764576	204	204											
TTN	7273	broad.mit.edu	37	chr2	179442553	179442553	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaacttatgaccaccgtcaTatttaggttcagtccaaatg	6	9	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:179442553T>C	uc010zfg.1	-	272	61120	c.60896A>G	c.(60895-60897)TAT>TGT	p.Y20299C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y13994C|TTN_uc010zfi.1_Missense_Mutation_p.Y13927C|TTN_uc010zfj.1_Missense_Mutation_p.Y13802C|uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21226							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCACCGTCATATTTAGGTTC	0.393													C	179442553	T	C	179442553	3	2	1	1	0	0	0	0	1	0	0	0	16732	1406	49	3	39539	3	TTN	2	179442553	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	7756	179442553	63756820	205	205											
TTN	7273	broad.mit.edu	37	chr2	179446303	179446303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttattaacggcatacacaCggaattgatattgtgtgtct	8	7	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:179446303C>T	uc010zfg.1	-	265	59212	c.58988G>A	c.(58987-58989)CGT>CAT	p.R19663H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R13358H|TTN_uc010zfi.1_Missense_Mutation_p.R13291H|TTN_uc010zfj.1_Missense_Mutation_p.R13166H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20590							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCATACACACGGAATTGATA	0.453													T	179446303	C	T	179446303	3	4	1	1	0	0	0	0	1	0	0	0	16732	536	19	1	41475	1	TTN	2	179446303	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3750	179446303	63753070	206	206											
TTN	7273	broad.mit.edu	37	chr2	179486698	179486698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgatgtcatattttttgCcctttttaatttcagcacca	4	8	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:179486698C>T	uc010zfg.1	-	193	37471	c.37247G>A	c.(37246-37248)GGC>GAC	p.G12416D	TTN_uc010zfh.1_Missense_Mutation_p.G6111D|TTN_uc010zfi.1_Missense_Mutation_p.G6044D|TTN_uc010zfj.1_Missense_Mutation_p.G5919D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13343							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATTTTTTGCCCTTTTTAAT	0.353													T	179486698	C	T	179486698	3	4	1	1	0	0	0	0	1	0	0	0	16732	739	26	2	63218	2	TTN	2	179486698	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	40395	179486698	63712675	207	207											
TTN	7273	broad.mit.edu	37	chr2	179579970	179579971	+	Frame_Shift_Ins	INS	-	-	T													tgtctctataggatgaggctINSttttgcggaaaatgggtggt							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:179579969_179579970C>CT	uc021vsy.1	-	86	22436_22437	c.22211_22212G>AG	c.(22210-22212)aagfs	p.K7404fs	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Frame_Shift_Ins_p.K4065fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8331	Ig-like 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGATGAGGCTTTTTGCGGAA	0.391													T	179579971	-	T	179579970	7	5	1	1	0	1	1	0	0	0	0	0	16732	1609	56	0	78678	0	TTN	2	179579970	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	93272	179579970	63619403	208	208											
DNAJC10	54431	broad.mit.edu	37	chr2	183619751	183619751	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataacattcaggcttatccaAcaacagtggtattcaaccag	6	10	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:183619751A>G	uc002uow.1	+	17	1988	c.1573A>G	c.(1573-1575)ACG>GCG	p.T525A	DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.T479A|DNAJC10_uc010fro.1_RNA	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	525	Thioredoxin 2.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			ovary(1)|large_intestine(1)|breast(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GGCTTATCCAACAACAGTGGT	0.323													G	183619751	A	G	183619751	3	3	1	1	0	0	0	0	1	0	0	0	4629	43	2	3	1631	3	DNAJC10	2	183619751	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	4039781	183619751	59579622	209	209											
NCKAP1	10787	broad.mit.edu	37	chr2	183821200	183821200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttcttacttggtaaagcGtatttccagatgagaagtca	8	7	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:183821200G>A	uc002upc.2	-	20	2545	c.2143C>T	c.(2143-2145)CGC>TGC	p.R715C	NCKAP1_uc002upb.2_Missense_Mutation_p.R721C	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	715					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGGTAAAGCGTATTTCCAGA	0.318													A	183821200	G	A	183821200	3	1	1	1	0	0	0	0	1	0	0	0	10221	1145	40	1	1291	1	NCKAP1	2	183821200	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	201449	183821200	59378173	210	210											
ZNF804A	91752	broad.mit.edu	37	chr2	185798372	185798372	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggaatttgctcgaaatgtaGcatctaaatccaggaaagat	10	6	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:185798372G>C	uc002uph.2	+	3	892	c.298G>C	c.(298-300)GCA>CCA	p.A100P		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	100						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						TCGAAATGTAGCATCTAAATC	0.373													C	185798372	G	C	185798372	3	2	1	1	0	0	0	0	1	0	0	0	18167	971	34	5	308	5	ZNF804A	2	185798372	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1977172	185798372	57401001	211	211											
ZSWIM2	151112	broad.mit.edu	37	chr2	187702109	187702109	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttgtccagtctctcttTttctgctgcagctactagtt	8	10	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:187702109T>C	uc002upu.1	-	5	707	c.667A>G	c.(667-669)AAA>GAA	p.K223E		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	223					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AGTCTCTCTTTTTCTGCTGCA	0.378													C	187702109	T	C	187702109	3	2	1	1	0	0	0	0	1	0	0	0	18238	1850	64	3	1254	3	ZSWIM2	2	187702109	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1903737	187702109	55497264	212	212											
CALCRL	10203	broad.mit.edu	37	chr2	188245466	188245466	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgattcagttcctgctgcaAcatcgttccagcagagccat	8	12	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:188245466A>G	uc002upv.3	-	6	781	c.233T>C	c.(232-234)GTT>GCT	p.V78A	CALCRL_uc010frt.2_Missense_Mutation_p.V78A	NM_005795	NP_005786	Q16602	CALRL_HUMAN	calcitonin receptor-like precursor	78	Extracellular (Potential).					integral to plasma membrane				lung(3)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TCCTGCTGCAACATCGTTCCA	0.418													G	188245466	A	G	188245466	3	3	1	1	0	0	0	0	1	0	0	0	2580	43	2	3	1192	3	CALCRL	2	188245466	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	543357	188245466	54953907	213	213											
OSGEPL1	64172	broad.mit.edu	37	chr2	190619912	190619912	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taattaccttgtcaagcatgTcacctggtgctatgtccaaa	7	10	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:190619912T>C	uc002uqz.1	-	3	1130	c.596A>G	c.(595-597)GAC>GGC	p.D199G	OSGEPL1_uc002ura.1_RNA|OSGEPL1_uc010zfy.1_Missense_Mutation_p.D199G	NM_022353	NP_071748	Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	199					proteolysis|tRNA processing		metalloendopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			GTCAAGCATGTCACCTGGTGC	0.368													C	190619912	T	C	190619912	3	2	1	1	0	0	0	0	1	0	0	0	11288	1667	58	3	672	3	OSGEPL1	2	190619912	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	2374446	190619912	52579461	214	214											
HECW2	57520	broad.mit.edu	37	chr2	197084840	197084840	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgatgaccaattccagttctCttgcatcaaaaacagatacc	5	12	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:197084840C>A	uc002utm.1	-	26	4514	c.4331G>T	c.(4330-4332)AGA>ATA	p.R1444I	HECW2_uc002utl.1_Missense_Mutation_p.R1088I	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	1444	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						TTCCAGTTCTCTTGCATCAAA	0.413													A	197084840	C	A	197084840	3	1	1	1	0	0	0	0	1	0	0	0	7043	913	32	5	403	5	HECW2	2	197084840	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	6464928	197084840	46114533	215	215											
GTF3C3	9330	broad.mit.edu	37	chr2	197650315	197650315	+	Splice_Site	DEL	A	A	-													ttggcttcatagtaactcctAaaaaaaagtggcaaaatgga					rs35643383		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:197650314_197650314TA>T	uc002uts.3	-	7	1051	c.894_splice	c.e7-1	p.K298_splice	GTF3C3_uc010zgu.2_Splice_Site_p.K298_splice|GTF3C3_uc002utu.3_Splice_Site_p.K298_splice|GTF3C3_uc002utt.4_Splice_Site	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	298						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TAGTAACTCCTAAAAAAAAGT	0.323													-	197650315	A	-	197650315	8	5	1	1	0	1	0	1	0	0	1	0	6874	377	13	0		0	GTF3C3	2	197650315	Splice_Site	DEL	A	TCGA-B7-5816-01A-21D-1600-08	565475	197650315	45549058	216	216											
ANKRD44	91526	broad.mit.edu	37	chr2	197975571	197975571	+	Splice_Site	DEL	A	A	-													acttttgccatctttactctAaaaaaaagagagggagagaa							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:197975570_197975570TA>T	uc021vuj.1	-	9	1100	c.907_splice	c.e9-1	p.S303_splice	ANKRD44_uc002utz.4_Splice_Site|ANKRD44_uc021vuk.1_Splice_Site_p.S278_splice|ANKRD44_uc002uub.3_Splice_Site_p.S303_splice|ANKRD44_uc010zgw.2_Splice_Site_p.S231_splice|ANKRD44_uc002uuc.3_Splice_Site_p.S303_splice	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	303							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATCTTTACTCTAAAAAAAAGA	0.448													-	197975571	A	-	197975571	8	5	1	1	0	1	0	1	0	0	1	0	672	377	13	0		0	ANKRD44	2	197975571	Splice_Site	DEL	A	TCGA-B7-5816-01A-21D-1600-08	325256	197975571	45223802	217	217											
ANKRD44	91526	broad.mit.edu	37	chr2	197990603	197990603	+	Frame_Shift_Del	DEL	C	C	-													gcatggtgcaaggctgtgcgCccccctcggtcggagacatt							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:197990602_197990602GC>G	uc021vuj.1	-	4	614	c.421_421GC>C	c.(421-423)cgcfs	p.R141fs	ANKRD44_uc021vuk.1_Frame_Shift_Del_p.R116fs|ANKRD44_uc002uub.3_Frame_Shift_Del_p.R141fs|ANKRD44_uc010zgw.2_Frame_Shift_Del_p.R69fs|ANKRD44_uc002uuc.3_Frame_Shift_Del_p.R141fs	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	141							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAGGCTGTGCGCCCCCCTCGG	0.557													-	197990603	C	-	197990603	7	5	1	1	0	1	0	1	0	0	0	0	672	726	26	0	2502	0	ANKRD44	2	197990603	Frame_Shift_Del	DEL	C	TCGA-B7-5816-01A-21D-1600-08	15032	197990603	45208770	218	218											
SF3B1	23451	broad.mit.edu	37	chr2	198285757	198285757	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaatgaaagatcacctgtTctgttgactgtggtatatca	8	6	3	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:198285757T>C	uc002uue.2	-	3	344	c.296A>G	c.(295-297)GAA>GGA	p.E99G	SF3B1_uc010fsk.1_RNA|SF3B1_uc002uuf.2_Missense_Mutation_p.E99G|SF3B1_uc002uug.2_Missense_Mutation_p.E99G	NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	99					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GATCACCTGTTCTGTTGACTG	0.373													C	198285757	T	C	198285757	3	2	1	1	0	0	0	0	1	0	0	0	14149	1783	62	3	3734	3	SF3B1	2	198285757	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	295154	198285757	44913616	219	219											
ORC2L	4999	broad.mit.edu	37	chr2	201791550	201791550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgtgaatggaatcttgcaGcatagtggttcgaaaccttt	10	7	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:201791550G>A	uc002uwr.2	-	12	1248	c.991C>T	c.(991-993)CTG>TTG	p.L331L	ORC2L_uc010zhj.1_Silent_p.L331L	NM_006190	NP_006181	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	331					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0						GAATCTTGCAGCATAGTGGTT	0.368													A	201791550	G	A	201791550	2	1	1	1	0	0	0	0	0	0	0	1	11262	962	34	2		2	ORC2L	2	201791550	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	3505793	201791550	41407823	220	220											
FAM117B	150864	broad.mit.edu	37	chr2	203560705	203560705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcttgctggacactggcctCgggatagccatgggcaagct	13	11	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:203560705C>T	uc010zhx.1	+	2	713	c.703C>T	c.(703-705)CGG>TGG	p.R235W	FAM117B_uc010zhw.1_Missense_Mutation_p.R235W	NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	235										ovary(1)	1						ACACTGGCCTCGGGATAGCCA	0.488													T	203560705	C	T	203560705	3	4	1	1	0	0	0	0	1	0	0	0	5410	875	31	1	709	1	FAM117B	2	203560705	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1769155	203560705	39638668	221	221											
NRP2	8828	broad.mit.edu	37	chr2	206628415	206628415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgacaggaatttcttgCggctgcagagtgacagccag	13	9	1	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:206628415C>T	uc002vaw.2	+	13	2853	c.2062C>T	c.(2062-2064)CGG>TGG	p.R688W	NRP2_uc002vau.2_Missense_Mutation_p.R688W|NRP2_uc002vav.2_Missense_Mutation_p.R688W|NRP2_uc002vax.2_Missense_Mutation_p.R688W|NRP2_uc002vay.2_Missense_Mutation_p.R688W	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	688	Extracellular (Potential).|MAM.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4						GAATTTCTTGCGGCTGCAGAG	0.572											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	206628415	C	T	206628415	3	4	1	1	0	0	0	0	1	0	0	0	10661	759	27	1	2139	1	NRP2	2	206628415	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3067710	206628415	36570958	222	222											
FAM119A	151194	broad.mit.edu	37	chr2	208486553	208486553	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagggcagccactatgcccAccagccccgtgccagcaccc	10	20	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:208486553A>G	uc002vcf.2	-	3	396	c.236T>C	c.(235-237)GTG>GCG	p.V79A	FAM119A_uc002vce.2_Missense_Mutation_p.V79A|FAM119A_uc010fuk.1_Missense_Mutation_p.V79A|FAM119A_uc002vcg.3_Missense_Mutation_p.V79A	NM_145280	NP_660323	Q8WXB1	MT21A_HUMAN	hypothetical protein LOC151194	79	Helical; (Potential).					integral to membrane	methyltransferase activity				0				LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135)		CACTATGCCCACCAGCCCCGT	0.562													G	208486553	A	G	208486553	3	3	1	1	0	0	0	0	1	0	0	0	5413	159	6	3	428	3	FAM119A	2	208486553	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1858138	208486553	34712820	223	223											
CRYGB	1419	broad.mit.edu	37	chr2	209007376	209007376	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatacttcagtacaaatccaTgactcgtctaagagagccaa	6	10	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:209007376T>C	uc002vcp.3	-	3	547	c.514A>G	c.(514-516)ATG>GTG	p.M172V		NM_005210	NP_005201	P07316	CRGB_HUMAN	crystallin, gamma B	172	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens				0				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		TACAAATCCATGACTCGTCTA	0.443													C	209007376	T	C	209007376	3	2	1	1	0	0	0	0	1	0	0	0	3915	1464	51	3	17	3	CRYGB	2	209007376	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	520823	209007376	34191997	224	224											
ERBB4	2066	broad.mit.edu	37	chr2	212289018	212289018	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtcatcagttcccataTagtaactcctatattggaga	7	8	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:212289018T>C	uc002veg.1	-	23	2826	c.2728A>G	c.(2728-2730)ATA>GTA	p.I910V	ERBB4_uc002veh.1_Missense_Mutation_p.I910V|ERBB4_uc010zji.1_Missense_Mutation_p.I900V|ERBB4_uc010zjj.1_Missense_Mutation_p.I900V	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	910	Protein kinase.|Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AGTTCCCATATAGTAACTCCT	0.373										TSP Lung(8;0.080)			C	212289018	T	C	212289018	3	2	1	1	0	0	0	0	1	0	0	0	5209	1406	49	3	1222	3	ERBB4	2	212289018	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	3281642	212289018	30910355	225	225											
ERBB4	2066	broad.mit.edu	37	chr2	212568916	212568916	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccatgactgtatgttcaggAaacctacaagtgaagagtag	11	7	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:212568916A>G	uc002veg.1	-	11	1300	c.1202T>C	c.(1201-1203)TTC>TCC	p.F401S	ERBB4_uc002veh.1_Missense_Mutation_p.F401S|ERBB4_uc010zji.1_Missense_Mutation_p.F401S|ERBB4_uc010zjj.1_Missense_Mutation_p.F401S|ERBB4_uc010fut.1_Missense_Mutation_p.F401S	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	401	Extracellular (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TATGTTCAGGAAACCTACAAG	0.358										TSP Lung(8;0.080)			G	212568916	A	G	212568916	3	3	1	1	0	0	0	0	1	0	0	0	5209	246	9	3	2796	3	ERBB4	2	212568916	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	279898	212568916	30630457	226	226											
IKZF2	22807	broad.mit.edu	37	chr2	213872278	213872278	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctaatctgttctccttctcCattgaagaccttgtagatgt	6	11	3	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:213872278C>A	uc002vem.2	-	8	1556	c.1387G>T	c.(1387-1389)GGA>TGA	p.G463*	IKZF2_uc010fuu.2_Nonsense_Mutation_p.G318*|IKZF2_uc002vej.2_Nonsense_Mutation_p.G410*|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Nonsense_Mutation_p.G389*|IKZF2_uc002vel.2_Nonsense_Mutation_p.G384*|IKZF2_uc010fuw.2_Nonsense_Mutation_p.G237*|IKZF2_uc010fux.2_Nonsense_Mutation_p.G237*|IKZF2_uc010fuy.2_Nonsense_Mutation_p.G391*|IKZF2_uc002ven.2_Nonsense_Mutation_p.G437*|IKZF2_uc002vei.2_Nonsense_Mutation_p.G241*	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	helios isoform 1	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TCTCCTTCTCCATTGAAGACC	0.488													A	213872278	C	A	213872278	4	1	1	1	0	0	0	0	0	1	0	0	7615	603	21	5	197	5	IKZF2	2	213872278	Nonsense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1303362	213872278	29327095	227	227											
IKZF2	22807	broad.mit.edu	37	chr2	214012446	214012446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttactgcttgtcatgtgaCttggtgaggcatgctgtcca	11	9	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:214012446C>T	uc002vem.2	-	3	294	c.125G>A	c.(124-126)AGT>AAT	p.S42N	IKZF2_uc010fuu.2_Missense_Mutation_p.S42N|IKZF2_uc002vej.2_5'UTR|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.S42N|IKZF2_uc002vel.2_5'UTR|IKZF2_uc010fuw.2_5'UTR|IKZF2_uc010fux.2_5'UTR|IKZF2_uc010fuy.2_Missense_Mutation_p.S42N|IKZF2_uc002ven.2_Missense_Mutation_p.S42N	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	helios isoform 1	42					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGTCATGTGACTTGGTGAGGC	0.453													T	214012446	C	T	214012446	3	4	1	1	0	0	0	0	1	0	0	0	7615	565	20	4	1479	4	IKZF2	2	214012446	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	140168	214012446	29186927	228	228											
ATIC	471	broad.mit.edu	37	chr2	216182940	216182940	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacgtgtgaaaactttgcaTcctgcagtccatgctggtaa	11	9	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:216182940T>C	uc002vex.3	+	3	381	c.207T>C	c.(205-207)CAT>CAC	p.H69H	ATIC_uc010zjo.1_Silent_p.H10H|ATIC_uc002vey.3_Silent_p.H68H	NM_004044	NP_004035	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide	69					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	AAACTTTGCATCCTGCAGTCC	0.408			T	ALK	ALCL								C	216182940	T	C	216182940	2	2	1	1	0	0	0	0	0	0	0	1	1105	1432	50	3		3	ATIC	2	216182940	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	2170494	216182940	27016433	229	229											
TNS1	7145	broad.mit.edu	37	chr2	218712809	218712809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggggatgggggtctctgCcaatggctgagggctgggcc	19	9	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:218712809C>T	uc002vgt.2	-	17	2454	c.2056G>A	c.(2056-2058)GCA>ACA	p.A686T	TNS1_uc002vgr.2_Missense_Mutation_p.A686T|TNS1_uc002vgs.2_Missense_Mutation_p.A686T|TNS1_uc010zjv.1_Missense_Mutation_p.A686T|TNS1_uc010fvj.1_Missense_Mutation_p.A754T|TNS1_uc010fvk.1_Missense_Mutation_p.A811T|TNS1_uc010fvi.1_Missense_Mutation_p.A373T	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	686						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGGGTCTCTGCCAATGGCTGA	0.532													T	218712809	C	T	218712809	3	4	1	1	0	0	0	0	1	0	0	0	16340	739	26	2	3219	2	TNS1	2	218712809	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2529869	218712809	24486564	230	230											
ZNF142	7701	broad.mit.edu	37	chr2	219508771	219508771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatcactaccatctgcaccCgcccctctagcaccaatgcc	6	19	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:219508771C>T	uc002vin.2	-	8	2904	c.2468G>A	c.(2467-2469)CGG>CAG	p.R823Q	ZNF142_uc002vil.2_Missense_Mutation_p.R784Q|ZNF142_uc010fvt.2_Missense_Mutation_p.R660Q|ZNF142_uc002vim.2_Missense_Mutation_p.R660Q	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	823					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CATCTGCACCCGCCCCTCTAG	0.582													T	219508771	C	T	219508771	3	4	1	1	0	0	0	0	1	0	0	0	17728	652	23	1	2607	1	ZNF142	2	219508771	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	795962	219508771	23690602	231	231											
CRYBA2	1412	broad.mit.edu	37	chr2	219855055	219855055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtaagtacagaactctccGctgtgccggtcccgctccaa	9	16	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:219855055G>A	uc002vjj.1	-	5	548	c.513C>T	c.(511-513)AGC>AGT	p.S171S	CRYBA2_uc002vjk.1_Silent_p.S171S	NM_057094	NP_476435	P53672	CRBA2_HUMAN	crystallin, beta A2	171	Beta/gamma crystallin 'Greek key' 4.						structural constituent of eye lens				0		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAACTCTCCGCTGTGCCGGT	0.627													A	219855055	G	A	219855055	2	1	1	1	0	0	0	0	0	0	0	1	3908	1078	38	1		1	CRYBA2	2	219855055	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	346284	219855055	23344318	232	232											
KCNE4	23704	broad.mit.edu	37	chr2	223917619	223917619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagccccctggagtcccGtgcggccggcggcggcagcg	17	17	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:223917619G>A	uc002vnl.3	+	2	225	c.71G>A	c.(70-72)CGT>CAT	p.R24H		NM_080671	NP_542402	Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related	24						integral to membrane	voltage-gated potassium channel activity			ovary(1)	1		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTGGAGTCCCGTGCGGCCGGC	0.617													A	223917619	G	A	223917619	3	1	1	1	0	0	0	0	1	0	0	0	8025	1145	40	1	73	1	KCNE4	2	223917619	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	4062564	223917619	19281754	233	233											
SPHKAP	80309	broad.mit.edu	37	chr2	228882136	228882136	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catagtaatccagcagtaacTcaaatcctctcccttcattt	3	13	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:228882136T>C	uc002vpq.2	-	7	3481	c.3434A>G	c.(3433-3435)GAG>GGG	p.E1145G	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1145G|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1145G	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1145						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAGCAGTAACTCAAATCCTCT	0.522													C	228882136	T	C	228882136	3	2	1	1	0	0	0	0	1	0	0	0	15047	1551	54	3	1692	3	SPHKAP	2	228882136	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	4964517	228882136	14317237	234	234											
SP100	6672	broad.mit.edu	37	chr2	231314895	231314895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtttatctccagagtcctgcGaacaaattgctgtccaagtg	9	10	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:231314895G>A	uc002vqt.2	+	8	886	c.745G>A	c.(745-747)GAA>AAA	p.E249K	SP100_uc002vqs.2_Missense_Mutation_p.E249K|SP100_uc002vqu.1_Missense_Mutation_p.E249K|SP100_uc010zmb.1_Missense_Mutation_p.E249K|SP100_uc002vqq.1_Missense_Mutation_p.E249K|SP100_uc002vqr.1_Missense_Mutation_p.E224K|SP100_uc010zmc.1_Missense_Mutation_p.E224K|SP100_uc002vqv.1_Missense_Mutation_p.E213K	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	249					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGAGTCCTGCGAACAAATTGC	0.473													A	231314895	G	A	231314895	3	1	1	1	0	0	0	0	1	0	0	0	14960	1059	37	1	775	1	SP100	2	231314895	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2432759	231314895	11884478	235	235											
ITM2C	81618	broad.mit.edu	37	chr2	231742762	231742762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaactgcaatgccatccGccacttcgagaacaccttcg	7	15	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:231742762G>A	uc002vqz.2	+	6	872	c.752G>A	c.(751-753)CGC>CAC	p.R251H	ITM2C_uc002vra.2_Missense_Mutation_p.R204H|ITM2C_uc002vrb.2_Missense_Mutation_p.R214H|ITM2C_uc002vrc.2_Missense_Mutation_p.R140H|ITM2C_uc002vrd.2_Missense_Mutation_p.R103H	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C isoform 1	251					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding				0		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		AATGCCATCCGCCACTTCGAG	0.577													A	231742762	G	A	231742762	3	1	1	1	0	0	0	0	1	0	0	0	7914	1087	38	1	774	1	ITM2C	2	231742762	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	427867	231742762	11456611	236	236											
HJURP	55355	broad.mit.edu	37	chr2	234752914	234752914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacgtacatcccttccagCtctgttacctgcacactgaa	5	16	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:234752914C>T	uc002vvg.2	-	7	577	c.511G>A	c.(511-513)GCT>ACT	p.A171T	HJURP_uc010znd.1_Missense_Mutation_p.A110T|HJURP_uc010zne.1_Missense_Mutation_p.A79T	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	171					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TCCCTTCCAGCTCTGTTACCT	0.552													T	234752914	C	T	234752914	3	4	1	1	0	0	0	0	1	0	0	0	7189	797	28	2	1747	2	HJURP	2	234752914	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3010152	234752914	8446459	237	237											
CXCR7	57007	broad.mit.edu	37	chr2	237489793	237489793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgttcccttctccattatcGctgtcttctacttcctgctg	5	16	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:237489793G>A	uc010fyq.2	+	3	915	c.685G>A	c.(685-687)GCT>ACT	p.A229T	CXCR7_uc002vwd.2_Missense_Mutation_p.A229T	NM_020311	NP_064707	P25106	CXCR7_HUMAN	chemokine orphan receptor 1	229	Helical; Name=5; (Potential).				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		CTCCATTATCGCTGTCTTCTA	0.577													A	237489793	G	A	237489793	3	1	1	1	0	0	0	0	1	0	0	0	4096	1087	38	1	687	1	CXCR7	2	237489793	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2736879	237489793	5709580	238	238											
COL6A3	1293	broad.mit.edu	37	chr2	238253001	238253001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagcacagacctgcaaagCgttgatgagctgccggtctt	12	11	1	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:238253001C>T	uc002vwl.2	-	36	7945	c.7660G>A	c.(7660-7662)GCT>ACT	p.A2554T	COL6A3_uc002vwo.2_Missense_Mutation_p.A2348T|COL6A3_uc010znj.1_Missense_Mutation_p.A1947T|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Missense_Mutation_p.A375T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2554	VWFA 11.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCTGCAAAGCGTTGATGAGC	0.557													T	238253001	C	T	238253001	3	4	1	1	0	0	0	0	1	0	0	0	3701	768	27	1	1909	1	COL6A3	2	238253001	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	763208	238253001	4946372	239	239											
COL6A3	1293	broad.mit.edu	37	chr2	238285492	238285492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatctccaatcttgggaagcGactctgcagccaggataaac	10	11	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:238285492G>A	uc002vwl.2	-	7	3278	c.2993C>T	c.(2992-2994)TCG>TTG	p.S998L	COL6A3_uc002vwo.2_Missense_Mutation_p.S792L|COL6A3_uc010znj.1_Missense_Mutation_p.S391L|COL6A3_uc002vwq.2_Missense_Mutation_p.S792L|COL6A3_uc002vwr.2_Missense_Mutation_p.S591L|COL6A3_uc010znk.1_Missense_Mutation_p.S798L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	998	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTTGGGAAGCGACTCTGCAGC	0.498													A	238285492	G	A	238285492	3	1	1	1	0	0	0	0	1	0	0	0	3701	1059	37	1	6739	1	COL6A3	2	238285492	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	32491	238285492	4913881	240	240											
UBE2F	140739	broad.mit.edu	37	chr2	238881799	238881799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgacgatggtctcaaagggtCccggacggcagccacagcgt	14	12	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:238881799C>T	uc002vxk.2	+	2	141	c.50C>T	c.(49-51)TCC>TTC	p.S17F	UBE2F_uc010znn.1_Missense_Mutation_p.S17F|UBE2F_uc002vxl.2_RNA|UBE2F_uc010zno.1_RNA|UBE2F_uc010znp.1_Missense_Mutation_p.S17F|SCLY_uc002vxm.3_5'UTR	NM_080678	NP_542409	Q969M7	UBE2F_HUMAN	NEDD8-conjugating enzyme	17	Interaction with UBA3.				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding				0		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		CTCAAAGGGTCCCGGACGGCA	0.473													T	238881799	C	T	238881799	3	4	1	1	0	0	0	0	1	0	0	0	16852	855	30	4	52	4	UBE2F	2	238881799	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	596307	238881799	4317574	241	241											
HDAC4	9759	broad.mit.edu	37	chr2	239988477	239988477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcgcaaatggcggtcaggtCgtggcctccctcgagggcca	15	13	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:239988477C>T	uc002vyk.3	-	24	3721	c.2929G>A	c.(2929-2931)GAC>AAC	p.D977N	HDAC4_uc010fyy.2_Missense_Mutation_p.D934N	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	977	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCGGTCAGGTCGTGGCCTCCC	0.627													T	239988477	C	T	239988477	3	4	1	1	0	0	0	0	1	0	0	0	7009	884	31	1	341	1	HDAC4	2	239988477	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1106678	239988477	3210896	242	242											
HDLBP	3069	broad.mit.edu	37	chr2	242174570	242174570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcctgtagctccttcacaCgctccagcagtccagccttg	9	17	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:242174570C>T	uc002waz.2	-	23	3338	c.3110G>A	c.(3109-3111)CGT>CAT	p.R1037H	HDLBP_uc002wba.2_Missense_Mutation_p.R1037H|HDLBP_uc002wbb.2_Missense_Mutation_p.R989H	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1037	KH 12.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTCCTTCACACGCTCCAGCAG	0.542													T	242174570	C	T	242174570	3	4	1	1	0	0	0	0	1	0	0	0	7025	536	19	1	720	1	HDLBP	2	242174570	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2186093	242174570	1024803	243	243											
FARP2	9855	broad.mit.edu	37	chr2	242429430	242429430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgtttcaccatctacgcGgctcagaaaacaatcgtggt	8	12	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:242429430G>A	uc002wbi.1	+	22	2592	c.2475G>A	c.(2473-2475)GCG>GCA	p.A825A		NM_014808	NP_055623	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	825	PH 1.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CCATCTACGCGGCTCAGAAAA	0.552													A	242429430	G	A	242429430	2	1	1	1	0	0	0	0	0	0	0	1	5677	1103	39	1		1	FARP2	2	242429430	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	254860	242429430	769943	244	244											
CHL1	10752	broad.mit.edu	37	chr3	402087	402087	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatggaactatccttgccaAtgccaatattgatgttgtgg	9	9	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:402087A>G	uc003bou.2	+	11	1509	c.1238A>G	c.(1237-1239)AAT>AGT	p.N413S	CHL1_uc003bot.2_Missense_Mutation_p.N429S|CHL1_uc003bow.1_Missense_Mutation_p.N413S|CHL1_uc011asi.1_Missense_Mutation_p.N429S	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	413	Ig-like C2-type 4.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATCCTTGCCAATGCCAATATT	0.433													G	402087	A	G	402087	3	3	1	1	0	0	0	0	1	0	0	0	3349	101	4	3	1324	3	CHL1	3	402087	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08		402087	197620343	245	245											
CRELD1	78987	broad.mit.edu	37	chr3	9984784	9984784	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaaggcctgcctaggcTgcatgggggcagggccaggt	18	11	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:9984784T>C	uc003bug.2	+	9	959	c.841T>C	c.(841-843)TGC>CGC	p.C281R	CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Missense_Mutation_p.C281R|CRELD1_uc003buh.2_Missense_Mutation_p.C281R|CRELD1_uc003bui.2_Missense_Mutation_p.C281R|CRELD1_uc003buj.2_RNA	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1 isoform 3	281	FU 2.|Extracellular (Potential).				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			ovary(1)	1						CTGCCTAGGCTGCATGGGGGC	0.622													C	9984784	T	C	9984784	3	2	1	1	0	0	0	0	1	0	0	0	3866	1580	55	3	871	3	CRELD1	3	9984784	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	9582697	9984784	188037646	246	246											
FANCD2	2177	broad.mit.edu	37	chr3	10140588	10140588	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcagaactttgcctacttAtgtttattgtcaaatgcttc	7	8	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:10140588A>G	uc003buw.2	+	43	4448	c.4370A>G	c.(4369-4371)TAT>TGT	p.Y1457C	FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron|FANCD2_uc010hcw.1_Intron|C3orf24_uc003buz.2_Intron	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	1457					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTGCCTACTTATGTTTATTGT	0.403			D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				G	10140588	A	G	10140588	3	3	1	1	0	0	0	0	1	0	0	0	5665	449	16	3	4536	3	FANCD2	3	10140588	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	155804	10140588	187881842	247	247											
C3orf20	84077	broad.mit.edu	37	chr3	14802989	14802989	+	Frame_Shift_Del	DEL	G	G	-													cctgtcaacagatgtttgccGgggggaagctcatttttggg							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:14802988_14802988CG>C	uc003byy.3	+	14	2813	c.2361_2361CG>C	c.(2359-2361)gccfs	p.A787fs	C3orf20_uc003byz.3_Frame_Shift_Del_p.A665fs|C3orf20_uc003bza.3_Frame_Shift_Del_p.A665fs|C3orf20_uc003bzb.1_Frame_Shift_Del_p.A288fs|C3orf20_uc011avj.2_Frame_Shift_Del_p.A114fs	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	787						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGATGTTTGCCGGGGGGAAGC	0.473													-	14802989	G	-	14802989	7	5	1	1	0	1	0	1	0	0	0	0	2213	1116	39	0	2412	0	C3orf20	3	14802989	Frame_Shift_Del	DEL	G	TCGA-B7-5816-01A-21D-1600-08	4662401	14802989	183219441	248	248											
FGD5	152273	broad.mit.edu	37	chr3	14861657	14861657	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagcacctctttttgcagcgAgagctgttctcctctttctg	9	12	4	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:14861657A>T	uc003bzc.2	+	1	1189	c.1079A>T	c.(1078-1080)GAG>GTG	p.E360V	FGD5_uc011avk.1_Missense_Mutation_p.E360V	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	360					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						TTTTGCAGCGAGAGCTGTTCT	0.527													T	14861657	A	T	14861657	3	4	1	1	0	0	0	0	1	0	0	0	5836	304	11	5	1081	5	FGD5	3	14861657	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	58668	14861657	183160773	249	249											
TBC1D5	9779	broad.mit.edu	37	chr3	17447931	17447931	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccagcaaatgctgcggaaCctgctgcttctcagctgccc	9	15	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:17447931C>A	uc003cbf.2	-	5	1920	c.255G>T	c.(253-255)AGG>AGT	p.R85S	TBC1D5_uc010hev.2_Missense_Mutation_p.R85S|TBC1D5_uc003cbe.2_Missense_Mutation_p.R85S|TBC1D5_uc010hew.1_Missense_Mutation_p.R37S	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	85	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						TGCTGCGGAACCTGCTGCTTC	0.388													A	17447931	C	A	17447931	3	1	1	1	0	0	0	0	1	0	0	0	15620	506	18	5	2274	5	TBC1D5	3	17447931	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2586274	17447931	180574499	250	250											
SATB1	6304	broad.mit.edu	37	chr3	18456690	18456690	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcactgtggtgtgcgaCcattgttcgggaggcaagtc	13	10	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:18456690C>T	uc003cbh.2	-	5	2287	c.552G>A	c.(550-552)TGG>TGA	p.W184*	SATB1_uc003cbi.2_Nonsense_Mutation_p.W184*|SATB1_uc003cbj.2_Nonsense_Mutation_p.W184*	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	184	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						TGGTGTGCGACCATTGTTCGG	0.453													T	18456690	C	T	18456690	4	4	1	1	0	0	0	0	0	1	0	0	13853	508	18	4	1767	4	SATB1	3	18456690	Nonsense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1008759	18456690	179565740	251	251											
NGLY1	55768	broad.mit.edu	37	chr3	25770727	25770727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttgaaactcgaacataaCgatctttcacaatattgtaa	4	7	2	1	rs139134926	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:25770727C>T	uc003cdl.2	-	10	1616	c.1508G>A	c.(1507-1509)CGT>CAT	p.R503H	NGLY1_uc010hfg.2_Missense_Mutation_p.R485H|NGLY1_uc003cdm.2_Missense_Mutation_p.R503H|NGLY1_uc011awo.1_Missense_Mutation_p.R461H|NGLY1_uc003cdk.2_RNA	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	N-glycanase 1 isoform 1	503	PAW.				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)	1						TCGAACATAACGATCTTTCAC	0.348													T	25770727	C	T	25770727	3	4	1	1	0	0	0	0	1	0	0	0	10398	536	19	1	468	1	NGLY1	3	25770727	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	7314037	25770727	172251703	252	252											
NEK10	152110	broad.mit.edu	37	chr3	27326096	27326096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatctttatacttactaaCggttactttgtccttatccc	3	10	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:27326096C>T	uc003cdt.1	-	23	2285	c.2011G>A	c.(2011-2013)GTT>ATT	p.V671I	NEK10_uc003cds.1_Missense_Mutation_p.V68I	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10 isoform 3	671	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						TACTTACTAACGGTTACTTTG	0.303													T	27326096	C	T	27326096	3	4	1	1	0	0	0	0	1	0	0	0	10322	536	19	1	139	1	NEK10	3	27326096	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1555369	27326096	170696334	253	253											
OSBPL10	114884	broad.mit.edu	37	chr3	31712295	31712295	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggccagctcctacctgtggActttccctccatagaaaggc	9	15	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:31712295A>G	uc003cev.2	-	10	2288	c.1907T>C	c.(1906-1908)GTC>GCC	p.V636A	OSBPL10_uc003ceu.1_Missense_Mutation_p.V393A|OSBPL10_uc011axf.1_Missense_Mutation_p.V572A	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	636					lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)		CTACCTGTGGACTTTCCCTCC	0.502													G	31712295	A	G	31712295	3	3	1	1	0	0	0	0	1	0	0	0	11275	275	10	3	403	3	OSBPL10	3	31712295	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	4386199	31712295	166310135	254	254											
GOLGA4	2803	broad.mit.edu	37	chr3	37340400	37340400	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagagaacctacttaagcgTtgtaaggaaacaattcagtc	8	8	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:37340400T>G	uc003cgv.2	+	8	1195	c.891T>G	c.(889-891)CGT>CGG	p.R297R	GOLGA4_uc010hgr.1_Intron|GOLGA4_uc003cgw.2_Silent_p.R319R|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Silent_p.R178R	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	297	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						TACTTAAGCGTTGTAAGGAAA	0.373													G	37340400	T	G	37340400	2	3	1	1	0	0	0	0	0	0	0	1	6555	1712	60	5		5	GOLGA4	3	37340400	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	5628105	37340400	160682030	255	255											
ITGA9	3680	broad.mit.edu	37	chr3	37574822	37574822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagcaaggcctgtcattaCggtggatgtctccatcttcc	10	12	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:37574822C>T	uc003chd.2	+	14	1444	c.1391C>T	c.(1390-1392)ACG>ATG	p.T464M	ITGA9_uc003chc.2_Missense_Mutation_p.T464M	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	464	Extracellular (Potential).|FG-GAP 7.				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CCTGTCATTACGGTGGATGTC	0.542													T	37574822	C	T	37574822	3	4	1	1	0	0	0	0	1	0	0	0	7883	536	19	1	1445	1	ITGA9	3	37574822	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	234422	37574822	160447608	256	256											
ACVR2B	93	broad.mit.edu	37	chr3	38518872	38518872	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagcggcctggagcgctgCgaaggcgagcaggacaagcg	18	11	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:38518872C>T	uc003cif.2	+	2	171	c.147C>T	c.(145-147)TGC>TGT	p.C49C	ACVR2B_uc003cig.2_5'UTR	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	49	Extracellular (Potential).				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		TGGAGCGCTGCGAAGGCGAGC	0.637													T	38518872	C	T	38518872	2	4	1	1	0	0	0	0	0	0	0	1	224	776	27	1		1	ACVR2B	3	38518872	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	944050	38518872	159503558	257	257											
XIRP1	165904	broad.mit.edu	37	chr3	39230481	39230481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccagcgggctgcacgaacGtctcctccacctggctgggg	14	15	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:39230481G>A	uc003cjk.1	-	2	677	c.456C>T	c.(454-456)GAC>GAT	p.D152D	XIRP1_uc003cji.2_Silent_p.D152D|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	152	Xin 3.						actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTGCACGAACGTCTCCTCCAC	0.622													A	39230481	G	A	39230481	2	1	1	1	0	0	0	0	0	0	0	1	17426	1136	40	1		1	XIRP1	3	39230481	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	711609	39230481	158791949	258	258											
ZNF619	285267	broad.mit.edu	37	chr3	40529660	40529660	+	Frame_Shift_Del	DEL	T	T	-													tcacctgtccaaatagcacaTttttttcaggatctcgcttt							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:40529659_40529659AT>A	uc011azb.2	+	5	2085	c.1778_1778AT>A	c.(1777-1779)catfs	p.H593fs	ZNF619_uc011aza.2_Frame_Shift_Del_p.H495fs|ZNF619_uc011azc.2_Frame_Shift_Del_p.H553fs|ZNF619_uc011azd.2_Frame_Shift_Del_p.H509fs|ZNF619_uc003ckj.3_Frame_Shift_Del_p.H537fs|ZNF619_uc021wwh.1_Frame_Shift_Del_p.H544fs	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	Homo sapiens zinc finger protein 619 (ZNF619), transcript variant 1, mRNA.	593					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CAAATAGCACATTTTTTTCAG	0.483													-	40529660	T	-	40529660	7	5	1	1	0	1	0	1	0	0	0	0	18040	1490	52	0	1819	0	ZNF619	3	40529660	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	1299179	40529660	157492770	259	259											
CTNNB1	1499	broad.mit.edu	37	chr3	41268763	41268763	+	Frame_Shift_Del	DEL	A	A	-													aatgaggacctatacttacgAaaaactactgtggaccacaa							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:41268762_41268762GA>G	uc010hia.1	+	7	1156	c.1000_1000GA>G	c.(1000-1002)gaafs	p.E334fs	CTNNB1_uc003ckq.2_Frame_Shift_Del_p.E334fs|CTNNB1_uc003ckp.2_Frame_Shift_Del_p.E334fs|CTNNB1_uc003ckr.2_Frame_Shift_Del_p.E334fs|CTNNB1_uc011azf.1_Frame_Shift_Del_p.E327fs|CTNNB1_uc011azg.1_Frame_Shift_Del_p.E262fs|AK311005_uc010hib.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	334					Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.E334K(2)|p.Y333*(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTATACTTACGAAAAACTACT	0.383		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				-	41268763	A	-	41268763	7	5	1	1	0	1	0	1	0	0	0	0	4016	246	9	0	1023	0	CTNNB1	3	41268763	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	739103	41268763	156753667	260	260											
CTNNB1	1499	broad.mit.edu	37	chr3	41275213	41275213	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctggtgacagggaagacaTcactgagcctgccatctgtg	14	10	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:41275213T>C	uc010hia.1	+	10	1535	c.1379T>C	c.(1378-1380)ATC>ACC	p.I460T	CTNNB1_uc003ckp.2_Missense_Mutation_p.I460T|CTNNB1_uc003ckq.2_Missense_Mutation_p.I460T|CTNNB1_uc003ckr.2_Missense_Mutation_p.I460T|CTNNB1_uc011azf.1_Missense_Mutation_p.I453T|CTNNB1_uc011azg.1_Missense_Mutation_p.I388T|CTNNB1_uc003cks.2_Missense_Mutation_p.I63T|CTNNB1_uc003ckt.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	460	ARM 8.				adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	AGGGAAGACATCACTGAGCCT	0.507		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				C	41275213	T	C	41275213	3	2	1	1	0	0	0	0	1	0	0	0	4016	1435	50	3	1409	3	CTNNB1	3	41275213	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	6450	41275213	156747217	261	261											
NKTR	4820	broad.mit.edu	37	chr3	42679502	42679502	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgggaaaaaaaatagcgtttCacataaaaagcatagcagca	8	6	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:42679502C>T	uc003clo.2	+	13	2453	c.2306C>T	c.(2305-2307)TCA>TTA	p.S769L	NKTR_uc003clm.1_Missense_Mutation_p.S516L|NKTR_uc003clp.2_Missense_Mutation_p.S516L|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.S659L|NKTR_uc003clr.1_Missense_Mutation_p.S516L|NKTR_uc003cls.2_Missense_Mutation_p.S469L	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	769	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AATAGCGTTTCACATAAAAAG	0.398													T	42679502	C	T	42679502	3	4	1	1	0	0	0	0	1	0	0	0	10448	838	29	4	2352	4	NKTR	3	42679502	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1404289	42679502	155342928	262	262											
ZNF197	10168	broad.mit.edu	37	chr3	44673974	44673974	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttatttcaggagttggtgAtgttcgaggaggtgtcagta	15	3	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:44673974A>G	uc003cnm.2	+	5	858	c.652A>G	c.(652-654)ATG>GTG	p.M218V	ZNF197_uc003cnn.2_Missense_Mutation_p.M218V|ZNF197_uc003cno.2_RNA|ZNF197_uc003cnp.2_Missense_Mutation_p.M218V	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	218	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GGAGTTGGTGATGTTCGAGGA	0.498													G	44673974	A	G	44673974	3	3	1	1	0	0	0	0	1	0	0	0	17756	333	12	3	666	3	ZNF197	3	44673974	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1994472	44673974	153348456	263	263											
LARS2	23395	broad.mit.edu	37	chr3	45530204	45530204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataggaattcccagtactaGctcagaggacaccatcttag	8	10	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:45530204G>A	uc003cop.1	+	12	1324	c.1139G>A	c.(1138-1140)AGC>AAC	p.S380N	LARS2_uc010hit.1_Missense_Mutation_p.S337N	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	380					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CCCAGTACTAGCTCAGAGGAC	0.473													A	45530204	G	A	45530204	3	1	1	1	0	0	0	0	1	0	0	0	8635	971	34	2	1177	2	LARS2	3	45530204	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	856230	45530204	152492226	264	264											
LARS2	23395	broad.mit.edu	37	chr3	45554714	45554714	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtatctacagagagaggaAgtggatctcacaggtaagaa	12	6	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:45554714A>C	uc003cop.1	+	16	2033	c.1848A>C	c.(1846-1848)GAA>GAC	p.E616D	LARS2_uc010hit.1_Missense_Mutation_p.E573D	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	616					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AGAGAGAGGAAGTGGATCTCA	0.547													C	45554714	A	C	45554714	3	2	1	1	0	0	0	0	1	0	0	0	8635	69	3	5	1902	5	LARS2	3	45554714	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	24510	45554714	152467716	265	265											
ALS2CL	259173	broad.mit.edu	37	chr3	46712551	46712551	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctggatgtgctcgtaacAggactggagggagagaggca	16	6	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:46712551A>C	uc003cqa.1	-	26	2975	c.2785T>G	c.(2785-2787)TGT>GGT	p.C929G	ALS2CL_uc003cpx.1_Missense_Mutation_p.C276G|ALS2CL_uc003cpy.1_RNA|ALS2CL_uc003cpz.1_Missense_Mutation_p.C444G|ALS2CL_uc003cqb.1_Missense_Mutation_p.C929G|ALS2CL_uc003cqc.1_RNA	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1	929	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TGCTCGTAACAGGACTGGAGG	0.587													C	46712551	A	C	46712551	3	2	1	1	0	0	0	0	1	0	0	0	551	188	7	5	80	5	ALS2CL	3	46712551	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1157837	46712551	151309879	266	266											
CSPG5	10675	broad.mit.edu	37	chr3	47614327	47614327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatgatggactcgcagcGcatccccttgtgccagatgt	13	11	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:47614327G>A	uc003crp.3	-	3	1407	c.1231C>T	c.(1231-1233)CGC>TGC	p.R411C	CSPG5_uc003crn.2_Missense_Mutation_p.R273C|CSPG5_uc003cro.3_Missense_Mutation_p.R411C|CSPG5_uc011bbb.1_Missense_Mutation_p.R273C	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	411	EGF-like.|Extracellular (Potential).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GACTCGCAGCGCATCCCCTTG	0.612													A	47614327	G	A	47614327	3	1	1	1	0	0	0	0	1	0	0	0	3961	1087	38	1	400	1	CSPG5	3	47614327	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	901776	47614327	150408103	267	267											
FBXW12	285231	broad.mit.edu	37	chr3	48423258	48423258	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctggatgggagccagtgatGgatatatgattgtctttacc	12	6	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:48423258G>T	uc003csr.2	+	9	1240	c.1054G>T	c.(1054-1056)GGA>TGA	p.G352*	FBXW12_uc010hjv.2_Nonsense_Mutation_p.G333*|FBXW12_uc003css.2_Nonsense_Mutation_p.G282*|FBXW12_uc010hjw.2_Nonsense_Mutation_p.G251*	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12 isoform	352	WD 4.										0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGCCAGTGATGGATATATGAT	0.448													T	48423258	G	T	48423258	4	4	1	1	0	0	0	0	0	1	0	0	5765	1349	47	5	1121	5	FBXW12	3	48423258	Nonsense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	808931	48423258	149599172	268	268											
PLXNB1	5364	broad.mit.edu	37	chr3	48454330	48454330	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaggggatgccgctgcccaGgaggtcactggtgagatcgg	18	9	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:48454330G>T	uc003csw.2	-	25	4945	c.4675C>A	c.(4675-4677)CTG>ATG	p.L1559M	PLXNB1_uc003cst.2_Missense_Mutation_p.L9M|PLXNB1_uc003csu.2_Missense_Mutation_p.L1376M|PLXNB1_uc003csx.2_Missense_Mutation_p.L1559M	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1559	Cytoplasmic (Potential).				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCGCTGCCCAGGAGGTCACTG	0.587													T	48454330	G	T	48454330	3	4	1	1	0	0	0	0	1	0	0	0	12123	991	35	5	1788	5	PLXNB1	3	48454330	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	31072	48454330	149568100	269	269											
CELSR3	1951	broad.mit.edu	37	chr3	48667139	48667139	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgccccaggacagagtagTggggcctgtgaaggagagag	17	9	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:48667139T>C	uc003cuf.1	-	50	11750	c.11750A>G	c.(11749-11751)CAC>CGC	p.H3917R	SLC26A6_uc003cug.2_Missense_Mutation_p.H491R|SLC26A6_uc003cuh.2_Missense_Mutation_p.H512R|SLC26A6_uc010hke.2_Missense_Mutation_p.H363R|SLC26A6_uc003cuk.2_Missense_Mutation_p.H405R|SLC26A6_uc003cui.2_Missense_Mutation_p.H512R|SLC26A6_uc003cuj.2_Missense_Mutation_p.H512R|SLC26A6_uc011bbp.1_Missense_Mutation_p.H476R	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	Error:Variant_position_missing_in_Q9NYQ7_after_alignment					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GACAGAGTAGTGGGGCCTGTG	0.557													C	48667139	T	C	48667139	3	2	1	1	0	0	0	0	1	0	0	0	3223	1696	59	3		3	CELSR3	3	48667139	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	212809	48667139	149355291	270	270											
CELSR3	1951	broad.mit.edu	37	chr3	48697746	48697746	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgcggtcacgctgaccacActggtgcccacagctgcatc	10	16	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:48697746A>G	uc003cul.2	-	1	2603	c.2322T>C	c.(2320-2322)AGT>AGC	p.S774S	CELSR3_uc003cuf.1_Silent_p.S844S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	774	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCTGACCACACTGGTGCCCA	0.562													G	48697746	A	G	48697746	2	3	1	1	0	0	0	0	0	0	0	1	3223	156	6	3		3	CELSR3	3	48697746	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	30607	48697746	149324684	271	271											
IP6K2	51447	broad.mit.edu	37	chr3	48726074	48726074	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcttcttgagcacagggcCcaggagttcacggcgcaggt	14	12	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:48726074C>A	uc003cup.2	-	6	1157	c.913G>T	c.(913-915)GGC>TGC	p.G305C	NCKIPSD_uc003cum.2_5'Flank|NCKIPSD_uc003cun.2_5'Flank|NCKIPSD_uc010hkh.1_5'Flank|IP6K2_uc003cuq.2_Missense_Mutation_p.G305C	NM_001005909	NP_001005909	Q9UHH9	IP6K2_HUMAN	inositol hexaphosphate kinase 2 isoform a	305					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						AGCACAGGGCCCAGGAGTTCA	0.547													A	48726074	C	A	48726074	3	1	1	1	0	0	0	0	1	0	0	0	7789	623	22	5	371	5	IP6K2	3	48726074	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	28328	48726074	149296356	272	272											
PRKAR2A	5576	broad.mit.edu	37	chr3	48820505	48820505	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcctttcaaacatggcatcGagaacttgagaaagctgttc	8	9	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:48820505G>A	uc010hki.1	-	5	697	c.456C>T	c.(454-456)CTC>CTT	p.L152L	PRKAR2A_uc003cux.1_Silent_p.L152L|PRKAR2A_uc003cuy.1_Silent_p.L152L	NM_004157	NP_004148	P13861	KAP2_HUMAN	cAMP-dependent protein kinase, regulatory	152	cAMP 1.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		ACATGGCATCGAGAACTTGAG	0.393													A	48820505	G	A	48820505	2	1	1	1	0	0	0	0	0	0	0	1	12505	1045	37	1		1	PRKAR2A	3	48820505	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	94431	48820505	149201925	273	273											
P4HTM	54681	broad.mit.edu	37	chr3	49044327	49044327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcctaccgcgatgcgcGcgtggaactctgagggaaga	16	12	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:49044327G>A	uc003cvg.2	+	9	1845	c.1496G>A	c.(1495-1497)CGC>CAC	p.R499H	P4HTM_uc003cvh.2_Missense_Mutation_p.R560H|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN	hypoxia-inducible factor prolyl 4-hydroxylase	499	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)|pancreas(1)	2					Vitamin C(DB00126)	CGCGATGCGCGCGTGGAACTC	0.667													A	49044327	G	A	49044327	3	1	1	1	0	0	0	0	1	0	0	0	11360	1087	38	1	1713	1	P4HTM	3	49044327	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	223822	49044327	148978103	274	274											
MST1R	4486	broad.mit.edu	37	chr3	49934714	49934714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcctggtggtacttaccGtgctagcagacactcagtcc	10	14	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:49934714G>A	uc003cxy.3	-	7	2446	c.2182C>T	c.(2182-2184)CGG>TGG	p.R728W	MST1R_uc011bdd.1_Missense_Mutation_p.R728W|MST1R_uc011bdc.1_5'Flank	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	728	IPT/TIG 2.|Extracellular (Potential).				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GGTACTTACCGTGCTAGCAGA	0.597													A	49934714	G	A	49934714	3	1	1	1	0	0	0	0	1	0	0	0	9891	1159	40	1	2076	1	MST1R	3	49934714	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	890387	49934714	148087716	275	275											
SEMA3F	6405	broad.mit.edu	37	chr3	50197137	50197137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacccaggaccacctcccgGccacgccccgggtccggctc	10	23	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:50197137G>A	uc003cyj.2	+	2	280	c.82G>A	c.(82-84)GCC>ACC	p.A28T	SEMA3F_uc003cyk.2_Missense_Mutation_p.A28T	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	28					axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CCACCTCCCGGCCACGCCCCG	0.602													A	50197137	G	A	50197137	3	1	1	1	0	0	0	0	1	0	0	0	14029	1203	42	2	84	2	SEMA3F	3	50197137	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	262423	50197137	147825293	276	276											
NAT6	24142	broad.mit.edu	37	chr3	50334195	50334195	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtcccttgggaccccTtggggcagcttgggcagtca	16	11	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:50334195T>C	uc003czi.2	-	2	803	c.700A>G	c.(700-702)AGG>GGG	p.R234G	HYAL3_uc003czc.1_Intron|HYAL3_uc003czd.1_Intron|HYAL3_uc003cze.1_Intron|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Intron|NAT6_uc003czj.2_Missense_Mutation_p.R256G|NAT6_uc003czk.3_Missense_Mutation_p.R234G|NAT6_uc003czl.1_Missense_Mutation_p.R234G	NM_012191	NP_036323	Q93015	NAT6_HUMAN	N-acetyltransferase 6	234						cytoplasm	N-acetyltransferase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TTGGGACCCCTTGGGGCAGCT	0.652													C	50334195	T	C	50334195	3	2	1	1	0	0	0	0	1	0	0	0	10178	1608	56	3	164	3	NAT6	3	50334195	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	137058	50334195	147688235	277	277											
CACNA2D2	9254	broad.mit.edu	37	chr3	50403525	50403525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagtcataggactccttgcGggtgtagaaggagttattgt	13	5	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:50403525G>A	uc003daq.2	-	33	2838	c.2800C>T	c.(2800-2802)CGC>TGC	p.R934C	CACNA2D2_uc003dap.2_Missense_Mutation_p.R927C|CACNA2D2_uc003dao.2_5'Flank	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha	934	Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GACTCCTTGCGGGTGTAGAAG	0.577													A	50403525	G	A	50403525	3	1	1	1	0	0	0	0	1	0	0	0	2549	1116	39	1	686	1	CACNA2D2	3	50403525	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	69330	50403525	147618905	278	278											
VPRBP	9730	broad.mit.edu	37	chr3	51457723	51457723	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attagcgatacgaggggttcGgggtagagagacaggagaag	18	4	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:51457723G>A	uc003dbe.1	-	14	2869	c.2701C>T	c.(2701-2703)CGA>TGA	p.R901*	VPRBP_uc003dbf.1_Nonsense_Mutation_p.R177*	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	901					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CGAGGGGTTCGGGGTAGAGAG	0.587													A	51457723	G	A	51457723	4	1	1	1	0	0	0	0	0	1	0	0	17182	1124	39	1	1866	1	VPRBP	3	51457723	Nonsense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1054198	51457723	146564707	279	279											
GRM2	2912	broad.mit.edu	37	chr3	51743220	51743220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcactggaccgcatcaaccGtgacccgcacctgctgcctg	10	17	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:51743220G>A	uc010hlv.2	+	2	460	c.221G>A	c.(220-222)CGT>CAT	p.R74H	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	74	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CGCATCAACCGTGACCCGCAC	0.627													A	51743220	G	A	51743220	3	1	1	1	0	0	0	0	1	0	0	0	6797	1145	40	1	223	1	GRM2	3	51743220	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	285497	51743220	146279210	280	280											
IQCF2	389123	broad.mit.edu	37	chr3	51897123	51897123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggataattcagtgctggtggCggatgacgctgtcgagggtg	18	6	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:51897123C>T	uc003dbt.1	+	3	270	c.232C>T	c.(232-234)CGG>TGG	p.R78W	IQCF1_uc003dbq.3_Intron|IQCF2_uc003dbu.1_RNA	NM_203424	NP_982248	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	78											0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTGCTGGTGGCGGATGACGCT	0.602													T	51897123	C	T	51897123	3	4	1	1	0	0	0	0	1	0	0	0	7808	759	27	1	242	1	IQCF2	3	51897123	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	153903	51897123	146125307	281	281											
RRP9	9136	broad.mit.edu	37	chr3	51970287	51970287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaccgacactgcatcccGgtgtcctgtgaaggtgtaca	10	14	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:51970287G>A	uc003dbw.1	-	8	760	c.721C>T	c.(721-723)CGG>TGG	p.R241W		NM_004704	NP_004695	O43818	U3IP2_HUMAN	RNA, U3 small nucleolar interacting protein 2	241	WD 3.				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		ACTGCATCCCGGTGTCCTGTG	0.557													A	51970287	G	A	51970287	3	1	1	1	0	0	0	0	1	0	0	0	13691	1115	39	1	738	1	RRP9	3	51970287	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	73164	51970287	146052143	282	282											
TLR9	54106	broad.mit.edu	37	chr3	52257754	52257754	+	Frame_Shift_Del	DEL	C	C	-													tgcccaggccaaggagggcaCccggggccacctccagtgcc							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:52257753_52257753AC>A	uc003ddb.3	-	4	1080	c.870_870GT>T	c.(868-870)ggtfs	p.G290fs	TLR9_uc003dda.2_Frame_Shift_Del_p.G193fs	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	193					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CAAGGAGGGCACCCGGGGCCA	0.617													-	52257754	C	-	52257754	7	5	1	1	0	1	0	1	0	0	0	0	15955	507	18	0	2524	0	TLR9	3	52257754	Frame_Shift_Del	DEL	C	TCGA-B7-5816-01A-21D-1600-08	287467	52257754	145764676	283	283											
WDR82	80335	broad.mit.edu	37	chr3	52295479	52295479	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcatccacaggtgacaTggacaaggccaccaccctgc	10	14	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:52295479T>C	uc003ddl.2	-	4	625	c.343A>G	c.(343-345)ATG>GTG	p.M115V	WDR82_uc003ddk.2_Missense_Mutation_p.M40V	NM_025222	NP_079498	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	115	WD 2.				histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding				0				BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		ACAGGTGACATGGACAAGGCC	0.443													C	52295479	T	C	52295479	3	2	1	1	0	0	0	0	1	0	0	0	17328	1464	51	3	622	3	WDR82	3	52295479	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	37725	52295479	145726951	284	284											
TNNC1	7134	broad.mit.edu	37	chr3	52485532	52485532	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcatccaggtcgatgtagCcatcagcatttctgtgggga	12	10	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:52485532C>A	uc003deb.2	-	5	355	c.329G>T	c.(328-330)GGC>GTC	p.G110V		NM_003280	NP_003271	P63316	TNNC1_HUMAN	troponin C, slow	110	EF-hand 3.|2.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding				0				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	GTCGATGTAGCCATCAGCATT	0.607													A	52485532	C	A	52485532	3	1	1	1	0	0	0	0	1	0	0	0	16321	739	26	5	164	5	TNNC1	3	52485532	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	190053	52485532	145536898	285	285											
GLT8D1	55830	broad.mit.edu	37	chr3	52730292	52730292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtatatggccttctttgCgctgggaaccagaattggca	11	9	1	1	rs140103588		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:52730292C>T	uc003dfi.3	-	6	629	c.490G>A	c.(490-492)GCA>ACA	p.A164T	GLT8D1_uc003dfj.2_Missense_Mutation_p.A164T|GLT8D1_uc003dfk.2_Missense_Mutation_p.A164T|GLT8D1_uc003dfl.2_Missense_Mutation_p.A164T|GLT8D1_uc003dfm.2_Missense_Mutation_p.A164T|GLT8D1_uc003dfn.2_Missense_Mutation_p.A164T|GLT8D1_uc003dfo.1_Missense_Mutation_p.A164T	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	164	Lumenal (Potential).					integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups				0				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCTTCTTTGCGCTGGGAACC	0.408													T	52730292	C	T	52730292	3	4	1	1	0	0	0	0	1	0	0	0	6469	768	27	1	645	1	GLT8D1	3	52730292	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	244760	52730292	145292138	286	286											
DCP1A	55802	broad.mit.edu	37	chr3	53326499	53326499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggggggaacctgtgcaGtaggagcttcagctggcaga	17	8	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:53326499G>A	uc003dgs.3	-	7	1076	c.983C>T	c.(982-984)ACT>ATT	p.T328I	DCP1A_uc003dgt.3_RNA	NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN	DCP1 decapping enzyme homolog A	328					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		AACCTGTGCAGTAGGAGCTTC	0.557													A	53326499	G	A	53326499	3	1	1	1	0	0	0	0	1	0	0	0	4298	1029	36	4	781	4	DCP1A	3	53326499	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	596207	53326499	144695931	287	287											
PTPRG	5793	broad.mit.edu	37	chr3	62254810	62254810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgcctgctacactgttcGtcgtttttcaatcagaaata	6	10	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:62254810G>A	uc003dlb.2	+	20	3694	c.2975G>A	c.(2974-2976)CGT>CAT	p.R992H	PTPRG_uc003dlc.2_Missense_Mutation_p.R963H|PTPRG_uc011bfi.1_Missense_Mutation_p.R238H|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	992	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TACACTGTTCGTCGTTTTTCA	0.393													A	62254810	G	A	62254810	3	1	1	1	0	0	0	0	1	0	0	0	12802	1145	40	1	3053	1	PTPRG	3	62254810	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	8928311	62254810	135767620	288	288											
PRICKLE2	166336	broad.mit.edu	37	chr3	64133333	64133333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagaaacaggtctcagtgGcatgccagtgttggccatca	12	10	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:64133333G>A	uc003dmf.2	-	7	1419	c.833C>T	c.(832-834)GCC>GTC	p.A278V		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	278	LIM zinc-binding 3.					cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGTCTCAGTGGCATGCCAGTG	0.537													A	64133333	G	A	64133333	3	1	1	1	0	0	0	0	1	0	0	0	12487	1203	42	2	1709	2	PRICKLE2	3	64133333	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1878523	64133333	133889097	289	289											
ADAMTS9	56999	broad.mit.edu	37	chr3	64527080	64527080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtcagagtgcatccccGcacagaatatctgaaagacc	11	11	2	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:64527080G>A	uc003dmg.2	-	35	5335	c.5303C>T	c.(5302-5304)GCG>GTG	p.A1768V	ADAMTS9_uc011bfo.1_Missense_Mutation_p.A1740V|ADAMTS9_uc011bfp.1_Missense_Mutation_p.A679V	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1768	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GTGCATCCCCGCACAGAATAT	0.463													A	64527080	G	A	64527080	3	1	1	1	0	0	0	0	1	0	0	0	273	1087	38	1	524	1	ADAMTS9	3	64527080	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	393747	64527080	133495350	290	290											
MAGI1	9223	broad.mit.edu	37	chr3	65349248	65349248	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagccaaatcccttggcTcctctttccagttccacagt	5	15	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:65349248T>C	uc003dmn.2	-	21	3913	c.3387A>G	c.(3385-3387)GGA>GGG	p.G1129G	MAGI1_uc003dmm.2_Silent_p.G1157G|MAGI1_uc003dmo.2_Silent_p.G1158G|MAGI1_uc003dmp.2_Silent_p.G1062G	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	1158	PDZ 6.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ATCCCTTGGCTCCTCTTTCCA	0.443													C	65349248	T	C	65349248	2	2	1	1	0	0	0	0	0	0	0	1	9190	1538	54	3		3	MAGI1	3	65349248	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	822168	65349248	132673182	291	291											
RG9MTD1	54931	broad.mit.edu	37	chr3	101284403	101284403	+	Frame_Shift_Del	DEL	A	A	-													ctttgcacagagagttagttAaacggtatcaagaaaaatgg							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:101284402_101284402TA>T	uc003duz.3	+	1	925	c.777_777TA>T	c.(775-777)gttfs	p.V259fs	RG9MTD1_uc021xbw.1_Frame_Shift_Del_p.V259fs	NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 1 (RG9MTD1), nuclear gene encoding mitochondrial protein, mRNA.	259					tRNA processing	mitochondrion	methyltransferase activity|protein binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	16						GAGAGTTAGTTAAACGGTATC	0.323													-	101284403	A	-	101284403	7	5	1	1	0	1	0	1	0	0	0	0	13271	363	13	0	780	0	RG9MTD1	3	101284403	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	35935155	101284403	96738027	292	292											
ZBTB11	27107	broad.mit.edu	37	chr3	101390079	101390079	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacagatttatgagctttgtActcttctccttcaattaaca	4	9	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:101390079A>G	uc003dve.3	-	3	903	c.673T>C	c.(673-675)TAC>CAC	p.Y225H	ZBTB11_uc003dvf.2_3'UTR	NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	225	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TGAGCTTTGTACTCTTCTCCT	0.388													G	101390079	A	G	101390079	3	3	1	1	0	0	0	0	1	0	0	0	17521	391	14	3	2524	3	ZBTB11	3	101390079	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	105676	101390079	96632351	293	293											
ALCAM	214	broad.mit.edu	37	chr3	105258914	105258914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgcttagggaatggcaacCctcccccagaggaatttttg	10	10	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:105258914C>T	uc003dvx.2	+	7	1366	c.826C>T	c.(826-828)CCT>TCT	p.P276S	ALCAM_uc003dvw.1_Missense_Mutation_p.P276S|ALCAM_uc003dvy.2_Missense_Mutation_p.P276S|ALCAM_uc011bhh.1_Missense_Mutation_p.P225S|ALCAM_uc010hpp.2_Intron	NM_001627	NP_001618	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	276	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(2)|breast(1)	3						GAATGGCAACCCTCCCCCAGA	0.398													T	105258914	C	T	105258914	3	4	1	1	0	0	0	0	1	0	0	0	487	623	22	4	852	4	ALCAM	3	105258914	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3868835	105258914	92763516	294	294											
CBLB	868	broad.mit.edu	37	chr3	105400357	105400357	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagatcataatcagagggCgtcctgttgagtgaagaacc	12	7	2	6			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:105400357C>T	uc003dwc.2	-	16	2716	c.2394G>A	c.(2392-2394)ACG>ACA	p.T798T	CBLB_uc003dwa.2_Intron|CBLB_uc011bhi.1_Intron|CBLB_uc003dwd.1_Silent_p.T798T|CBLB_uc003dwe.1_3'UTR	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	798	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			lung(4)|ovary(3)|breast(1)|skin(1)	9						AATCAGAGGGCGTCCTGTTGA	0.438			Mis S		AML								T	105400357	C	T	105400357	2	4	1	1	0	0	0	0	0	0	0	1	2701	755	27	1		1	CBLB	3	105400357	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	141443	105400357	92622073	295	295											
DZIP3	9666	broad.mit.edu	37	chr3	108373083	108373083	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taaaagatgatgcaagtgatGttcaagaggattctgcaatg	11	4	2	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:108373083G>C	uc003dxd.2	+	19	2547	c.2125G>C	c.(2125-2127)GTT>CTT	p.V709L	DZIP3_uc003dxf.1_Missense_Mutation_p.V709L|DZIP3_uc011bhm.1_Missense_Mutation_p.V160L|DZIP3_uc003dxg.1_Missense_Mutation_p.V432L	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	709					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						TGCAAGTGATGTTCAAGAGGA	0.423													C	108373083	G	C	108373083	3	2	1	1	0	0	0	0	1	0	0	0	4865	1377	48	5	2195	5	DZIP3	3	108373083	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2972726	108373083	89649347	296	296											
WDR52	55779	broad.mit.edu	37	chr3	113099764	113099764	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagaatcttagatttgacActtgaaaaatggaaacattt	6	6	1	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:113099764A>G	uc003eae.1	-	16	2080	c.2034T>C	c.(2032-2034)AGT>AGC	p.S678S		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	678										central_nervous_system(1)	1						TAGATTTGACACTTGAAAAAT	0.289													G	113099764	A	G	113099764	2	3	1	1	0	0	0	0	0	0	0	1	17301	156	6	3		3	WDR52	3	113099764	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	4726681	113099764	84922666	297	297											
TMEM39A	55254	broad.mit.edu	37	chr3	119165887	119165887	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagccaaggaaaaggagatTgaggactgaatggcttcgaa	14	5	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:119165887T>C	uc003eck.1	-	5	916	c.553A>G	c.(553-555)AAT>GAT	p.N185D	TMEM39A_uc003ecl.1_Missense_Mutation_p.N33D	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	185	Helical; (Potential).					integral to membrane				ovary(1)|breast(1)	2				GBM - Glioblastoma multiforme(114;0.244)		AAAAGGAGATTGAGGACTGAA	0.408													C	119165887	T	C	119165887	3	2	1	1	0	0	0	0	1	0	0	0	16158	1812	63	3	933	3	TMEM39A	3	119165887	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	6066123	119165887	78856543	298	298											
STXBP5L	9515	broad.mit.edu	37	chr3	120957878	120957878	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatcaccagttacatgcacAgcatactttgcagattgtcc	7	11	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:120957878A>G	uc003eec.3	+	13	1385	c.1245A>G	c.(1243-1245)ACA>ACG	p.T415T	STXBP5L_uc011bji.1_Silent_p.T415T	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	415	WD 8.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		TTACATGCACAGCATACTTTG	0.323													G	120957878	A	G	120957878	2	3	1	1	0	0	0	0	0	0	0	1	15356	175	7	3		3	STXBP5L	3	120957878	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1791991	120957878	77064552	299	299											
POLQ	10721	broad.mit.edu	37	chr3	121248490	121248490	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctttccatccataactcAccctcagcttgatgatgtag	5	13	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:121248490A>G	uc003eee.3	-	7	1237	c.1108_splice	c.e7+1	p.G370_splice		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta						DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TCCATAACTCACCCTCAGCTT	0.358								DNA_polymerases_(catalytic_subunits)					G	121248490	A	G	121248490	5	3	1	1	0	0	0	0	0	0	1	0	12208	173	6	3	6758	3	POLQ	3	121248490	Splice_Site	SNP	A	TCGA-B7-5816-01A-21D-1600-08	290612	121248490	76773940	300	300											
PARP14	54625	broad.mit.edu	37	chr3	122437467	122437467	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattaacatttccctggaccAtaagagacctttgattaagg	7	8	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:122437467A>G	uc003efq.3	+	14	4528	c.4469A>G	c.(4468-4470)CAT>CGT	p.H1490R	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.H1207R|PARP14_uc003efs.1_Missense_Mutation_p.H1207R	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		TCCCTGGACCATAAGAGACCT	0.398													G	122437467	A	G	122437467	3	3	1	1	0	0	0	0	1	0	0	0	11458	217	8	3	4523	3	PARP14	3	122437467	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1188977	122437467	75584963	301	301											
RUVBL1	8607	broad.mit.edu	37	chr3	127801405	127801405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattccttccgtctgggcacGgattttaatgatcttttaaa	8	8	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:127801405G>A	uc003ekh.2	-	10	1236	c.1132C>T	c.(1132-1134)CGT>TGT	p.R378C	RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Intron|RUVBL1_uc010hss.2_Intron	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	378					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		GTCTGGGCACGGATTTTAATG	0.473													A	127801405	G	A	127801405	3	1	1	1	0	0	0	0	1	0	0	0	13752	1116	39	1	246	1	RUVBL1	3	127801405	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	5363938	127801405	70221025	302	302											
IFT122	55764	broad.mit.edu	37	chr3	129185901	129185901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggacgacagtcccagggaCgacaacttgtgagtgtgtcc	14	10	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:129185901C>T	uc003emm.2	+	8	938	c.732C>T	c.(730-732)GAC>GAT	p.D244D	IFT122_uc003eml.2_Silent_p.D295D|IFT122_uc003emn.2_Intron|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_Silent_p.D94D|IFT122_uc010htc.2_Intron|IFT122_uc011bky.1_Intron|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_Intron	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	244					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						GTCCCAGGGACGACAACTTGT	0.542													T	129185901	C	T	129185901	2	4	1	1	0	0	0	0	0	0	0	1	7555	535	19	1		1	IFT122	3	129185901	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1384496	129185901	68836529	303	303											
ATP2C1	27032	broad.mit.edu	37	chr3	130716593	130716593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactttgtttgtcttctggcGtgaggtatattcactggcca	11	8	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:130716593G>A	uc003enl.2	+	25	2609	c.2387G>A	c.(2386-2388)CGT>CAT	p.R796H	ATP2C1_uc011blg.1_Missense_Mutation_p.R830H|ATP2C1_uc011blh.1_Missense_Mutation_p.R791H|ATP2C1_uc011bli.1_Missense_Mutation_p.R830H|ATP2C1_uc003enk.2_Missense_Mutation_p.R780H|ATP2C1_uc003enm.2_Missense_Mutation_p.R796H|ATP2C1_uc003enn.2_Missense_Mutation_p.R780H|ATP2C1_uc003eno.2_Missense_Mutation_p.R796H|ATP2C1_uc003enp.2_Missense_Mutation_p.R796H|ATP2C1_uc003enq.2_Missense_Mutation_p.R796H|ATP2C1_uc003enr.2_Missense_Mutation_p.R796H|ATP2C1_uc003ens.2_Missense_Mutation_p.R796H|ATP2C1_uc003ent.2_Missense_Mutation_p.R796H|ATP2C1_uc003enu.2_Missense_Mutation_p.R474H	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	796	Lumenal (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GTCTTCTGGCGTGAGGTATAT	0.368									Hailey-Hailey_disease				A	130716593	G	A	130716593	3	1	1	1	0	0	0	0	1	0	0	0	1143	1145	40	1	2481	1	ATP2C1	3	130716593	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1530692	130716593	67305837	304	304											
NPHP3	27031	broad.mit.edu	37	chr3	132431994	132431994	+	Frame_Shift_Del	DEL	A	A	-													gtaatgttaagtgaataaatAaaataactaaagaacttttc							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:132431993_132431993TA>T	uc003epe.2	-	5	1199	c.1095_1095TA>A	c.(1093-1095)ttafs	p.L365fs	NPHP3_uc003epf.2_Frame_Shift_Del_p.L120fs	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	365					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTGAATAAATAAAATAACTA	0.269													-	132431994	A	-	132431994	7	5	1	1	0	1	0	1	0	0	0	0	10580	372	13	0	2986	0	NPHP3	3	132431994	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	1715401	132431994	65590436	305	305											
EPHB1	2047	broad.mit.edu	37	chr3	134825395	134825395	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctcccatctgcacctgtcGgaccggttattaccgagcgg	11	14	2	0	rs143323362	by1000genomes	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:134825395G>T	uc003eqt.2	+	4	1131	c.911G>T	c.(910-912)CGG>CTG	p.R304L	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Nonsense_Mutation_p.G193*|EPHB1_uc003equ.2_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	304	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						TGCACCTGTCGGACCGGTTAT	0.592													T	134825395	G	T	134825395	3	4	1	1	0	0	0	0	1	0	0	0	5174	1116	39	5	925	5	EPHB1	3	134825395	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2393401	134825395	63197035	306	306											
PPP2R3A	5523	broad.mit.edu	37	chr3	135745935	135745935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatgaaatggggaaaattGcaaaggtaatgtaactacta	9	3	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:135745935G>A	uc003eqv.1	+	3	2822	c.2257G>A	c.(2257-2259)GCA>ACA	p.A753T	PPP2R3A_uc011blz.1_Missense_Mutation_p.A17T|PPP2R3A_uc003eqw.1_Missense_Mutation_p.A132T|PPP2R3A_uc011bma.1_RNA	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	753					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						GGGGAAAATTGCAAAGGTAAT	0.398													A	135745935	G	A	135745935	3	1	1	1	0	0	0	0	1	0	0	0	12388	1319	46	2	2399	2	PPP2R3A	3	135745935	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	920540	135745935	62276495	307	307											
PCCB	5096	broad.mit.edu	37	chr3	136002741	136002741	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcatgggcccatgtgctggTggggccgtctactccccagc	13	14	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:136002741T>C	uc003eqy.1	+	6	657	c.606T>C	c.(604-606)GGT>GGC	p.G202G	PCCB_uc003eqz.1_Silent_p.G202G|PCCB_uc011bmc.1_Silent_p.G222G|PCCB_uc011bmd.1_Silent_p.G119G	NM_000532	NP_000523	P05166	PCCB_HUMAN	propionyl Coenzyme A carboxylase, beta	202	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity				0					Biotin(DB00121)|L-Valine(DB00161)	CATGTGCTGGTGGGGCCGTCT	0.493													C	136002741	T	C	136002741	2	2	1	1	0	0	0	0	0	0	0	1	11505	1683	59	3		3	PCCB	3	136002741	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	256806	136002741	62019689	308	308											
NMNAT3	349565	broad.mit.edu	37	chr3	139279978	139279978	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtactttacgctctgcccTtggcccaaggctcgcctgat	10	14	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:139279978T>C	uc003etj.2	-	4	673	c.633A>G	c.(631-633)CAA>CAG	p.Q211Q	NMNAT3_uc003etk.2_Silent_p.Q174Q|NMNAT3_uc003etl.2_RNA|NMNAT3_uc010hul.2_Silent_p.Q122Q	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	nicotinamide mononucleotide adenylyltransferase	211					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity				0						CGCTCTGCCCTTGGCCCAAGG	0.542													C	139279978	T	C	139279978	2	2	1	1	0	0	0	0	0	0	0	1	10500	1606	56	3		3	NMNAT3	3	139279978	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	3277237	139279978	58742452	309	309											
ZBTB38	253461	broad.mit.edu	37	chr3	141162737	141162737	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatttgcattggctgagtacAggacaaggcatgaaatttgg	12	5	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:141162737A>G	uc003etw.2	+	8	2489	c.1507A>G	c.(1507-1509)AGG>GGG	p.R503G	ZBTB38_uc010hun.2_Missense_Mutation_p.R500G|ZBTB38_uc010huo.2_Missense_Mutation_p.R503G|ZBTB38_uc003ety.2_Missense_Mutation_p.R503G|ZBTB38_uc010hup.2_Missense_Mutation_p.R504G	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	503	C2H2-type 4.				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						GGCTGAGTACAGGACAAGGCA	0.398													G	141162737	A	G	141162737	3	3	1	1	0	0	0	0	1	0	0	0	17536	179	7	3	1509	3	ZBTB38	3	141162737	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1882759	141162737	56859693	310	310											
ATP1B3	483	broad.mit.edu	37	chr3	141626115	141626115	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccttaagaagtttctaaaAcgtgagtatgttttcttaga	8	5	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:141626115A>G	uc003eug.1	+	3	519	c.345A>G	c.(343-345)AAA>AAG	p.K115K	ATP1B3_uc011bne.1_RNA|ATP1B3_uc003euh.1_Silent_p.K101K	NM_001679	NP_001670	P54709	AT1B3_HUMAN	Na+/K+ -ATPase beta 3 subunit	115	Extracellular (Potential).				ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity				0						AGTTTCTAAAACGTGAGTATG	0.294													G	141626115	A	G	141626115	2	3	1	1	0	0	0	0	0	0	0	1	1134	57	2	3		3	ATP1B3	3	141626115	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	463378	141626115	56396315	311	311											
MED12L	116931	broad.mit.edu	37	chr3	151101884	151101884	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttagtgaattattcacaAcagttcttgacatgctgggt	8	7	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:151101884A>G	uc003eyp.2	+	33	4737	c.4699A>G	c.(4699-4701)ACA>GCA	p.T1567A	MED12L_uc011bnz.1_Missense_Mutation_p.T1427A|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.T730A	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1567					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTATTCACAACAGTTCTTGA	0.343													G	151101884	A	G	151101884	3	3	1	1	0	0	0	0	1	0	0	0	9429	43	2	3	4829	3	MED12L	3	151101884	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	9475769	151101884	46920546	312	312											
IGSF10	285313	broad.mit.edu	37	chr3	151163001	151163001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaacatgcttacttctgGctttttgcctttttcagcaa	6	11	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:151163001G>A	uc011bod.1	-	4	4768	c.4768C>T	c.(4768-4770)CCA>TCA	p.P1590S		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1590					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTTACTTCTGGCTTTTTGCCT	0.413													A	151163001	G	A	151163001	3	1	1	1	0	0	0	0	1	0	0	0	7597	1203	42	2	3163	2	IGSF10	3	151163001	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	61117	151163001	46859429	313	313											
P2RY1	5028	broad.mit.edu	37	chr3	152554485	152554485	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caatgacagggtttatgccaCgtatcaggtgacaagaggtc	12	8	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:152554485C>G	uc003ezq.2	+	1	1750	c.914C>G	c.(913-915)ACG>AGG	p.T305R		NM_002563	NP_002554	P47900	P2RY1_HUMAN	purinergic receptor P2Y1	305	Helical; Name=7; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GTTTATGCCACGTATCAGGTG	0.483													G	152554485	C	G	152554485	3	3	1	1	0	0	0	0	1	0	0	0	11346	536	19	5	916	5	P2RY1	3	152554485	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1391484	152554485	45467945	314	314											
SMC4	10051	broad.mit.edu	37	chr3	160122248	160122248	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgttggaaatcttcttcgaAgccatggaattgacttggac	10	7	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:160122248A>G	uc003fdh.2	+	5	756	c.643A>G	c.(643-645)AGC>GGC	p.S215G	IFT80_uc003fda.2_Intron|SMC4_uc003fdf.1_RNA|SMC4_uc003fdg.1_Missense_Mutation_p.S215G|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.S190G|SMC4_uc003fdj.2_Missense_Mutation_p.S215G|SMC4_uc010hwd.2_Missense_Mutation_p.S215G|uc011boz.1_5'Flank|MIR15B_hsa-mir-15b|MI0000438_5'Flank|uc003fdk.2_5'Flank|MIR16-2_hsa-mir-16-2|MI0000115_5'Flank	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	215					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCTTCTTCGAAGCCATGGAAT	0.303													G	160122248	A	G	160122248	3	3	1	1	0	0	0	0	1	0	0	0	14785	72	3	3	657	3	SMC4	3	160122248	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	7567763	160122248	37900182	315	315											
C3orf57	165679	broad.mit.edu	37	chr3	161064099	161064099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaatattccttcacacGcctcaaatccatggttggct	8	11	2	1	rs144350794		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:161064099G>A	uc003fee.2	-	3	787	c.13C>T	c.(13-15)CGT>TGT	p.R5C		NM_001040100	NP_001035189	Q8NFR3	SSPTB_HUMAN	ADMP	5	Cytoplasmic (Potential).				sphingolipid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	protein binding				0			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TCCTTCACACGCCTCAAATCC	0.408													A	161064099	G	A	161064099	3	1	1	1	0	0	0	0	1	0	0	0	2235	1087	38	1	221	1	C3orf57	3	161064099	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	941851	161064099	36958331	316	316											
ZBBX	79740	broad.mit.edu	37	chr3	167086318	167086318	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttctccatctcttggttcTcaaactctaactgtactttc	3	13	5	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:167086318T>G	uc003fep.2	-	5	436	c.113A>C	c.(112-114)GAG>GCG	p.E38A	ZBBX_uc011bpc.1_Missense_Mutation_p.E38A|ZBBX_uc003feq.2_Missense_Mutation_p.E9A	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	38	Potential.					intracellular	zinc ion binding			ovary(2)	2						CTCTTGGTTCTCAAACTCTAA	0.358													G	167086318	T	G	167086318	3	3	1	1	0	0	0	0	1	0	0	0	17513	1551	54	5	2357	5	ZBBX	3	167086318	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	6022219	167086318	30936112	317	317											
GOLIM4	27333	broad.mit.edu	37	chr3	167742312	167742312	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgggattcaatccttactAcctcctcttctgcctcttcc	4	16	5	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:167742312A>G	uc003ffe.2	-	14	2204	c.1860_splice	c.e14+1	p.E620_splice	GOLIM4_uc011bpe.1_Splice_Site_p.E621_splice|GOLIM4_uc011bpf.1_Splice_Site_p.E593_splice|GOLIM4_uc011bpg.1_Splice_Site_p.E592_splice	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4						transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)|skin(1)	5						AATCCTTACTACCTCCTCTTC	0.453													G	167742312	A	G	167742312	5	3	1	1	0	0	0	0	0	0	1	0	6566	405	14	3	240	3	GOLIM4	3	167742312	Splice_Site	SNP	A	TCGA-B7-5816-01A-21D-1600-08	655994	167742312	30280118	318	318											
SAMD7	344658	broad.mit.edu	37	chr3	169644902	169644902	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggaaagaggaggcttcggaGcagatttttgcaacctgtga	15	6	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:169644902G>T	uc003fgd.2	+	6	1119	c.852G>T	c.(850-852)GAG>GAT	p.E284D	SAMD7_uc003fge.2_Missense_Mutation_p.E284D|SAMD7_uc011bpo.1_Missense_Mutation_p.E185D	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	284										skin(1)	1	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGGCTTCGGAGCAGATTTTTG	0.567													T	169644902	G	T	169644902	3	4	1	1	0	0	0	0	1	0	0	0	13824	962	34	5	866	5	SAMD7	3	169644902	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1902590	169644902	28377528	319	319											
PLD1	5337	broad.mit.edu	37	chr3	171379864	171379864	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttacttcgatatagatatAgtgcctgctgttctctatca	6	9	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:171379864A>G	uc003fhs.2	-	20	2442	c.2326T>C	c.(2326-2328)TAT>CAT	p.Y776H	PLD1_uc003fht.2_Missense_Mutation_p.Y738H|PLD1_uc003fhu.3_Missense_Mutation_p.Y70H|PLD1_uc003fhv.1_Missense_Mutation_p.Y101H	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	776	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ATATAGATATAGTGCCTGCTG	0.458													G	171379864	A	G	171379864	3	3	1	1	0	0	0	0	1	0	0	0	12045	420	15	3	930	3	PLD1	3	171379864	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1734962	171379864	26642566	320	320											
PLD1	5337	broad.mit.edu	37	chr3	171406484	171406484	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgggagggaacccagagaCggtcctgaagtgacccgctt	14	11	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:171406484C>T	uc003fhs.2	-	14	1637	c.1521G>A	c.(1519-1521)CCG>CCA	p.P507P	PLD1_uc003fht.2_Silent_p.P507P	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	507	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AACCCAGAGACGGTCCTGAAG	0.453													T	171406484	C	T	171406484	2	4	1	1	0	0	0	0	0	0	0	1	12045	523	19	1		1	PLD1	3	171406484	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	26620	171406484	26615946	321	321											
ECT2	1894	broad.mit.edu	37	chr3	172523602	172523602	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcttctcttaagcatAttcacctaatgcctctttct	3	15	4	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:172523602A>C	uc003fii.2	+	20	2233	c.2095A>C	c.(2095-2097)ATT>CTT	p.I699L	ECT2_uc010hwv.1_Missense_Mutation_p.I730L|ECT2_uc003fih.2_Missense_Mutation_p.I698L|ECT2_uc003fij.1_Missense_Mutation_p.I699L|ECT2_uc003fik.1_Missense_Mutation_p.I699L|ECT2_uc003fil.1_Missense_Mutation_p.I730L|ECT2_uc003fim.1_5'UTR	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	699	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TCTTAAGCATATTCACCTAAT	0.388													C	172523602	A	C	172523602	3	2	1	1	0	0	0	0	1	0	0	0	4901	449	16	5	2169	5	ECT2	3	172523602	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1117118	172523602	25498828	322	322											
SPATA16	83893	broad.mit.edu	37	chr3	172634270	172634270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggatgcaggaaaactcCcctagtctcaaagtaaaaga	9	9	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:172634270C>T	uc003fin.3	-	9	1498	c.1340G>A	c.(1339-1341)GGG>GAG	p.G447E		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	447					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AGGAAAACTCCCCTAGTCTCA	0.458													T	172634270	C	T	172634270	3	4	1	1	0	0	0	0	1	0	0	0	15000	637	22	4	381	4	SPATA16	3	172634270	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	110668	172634270	25388160	323	323											
NLGN1	22871	broad.mit.edu	37	chr3	173322455	173322455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggcatgcttggtacacCggggattgggtgccccattg	15	9	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:173322455C>T	uc003fio.1	+	3	490	c.67C>T	c.(67-69)CGG>TGG	p.R23W	NLGN1_uc010hww.1_Missense_Mutation_p.R23W|NLGN1_uc003fip.1_Missense_Mutation_p.R23W	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	23					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTTGGTACACCGGGGATTGGG	0.507													T	173322455	C	T	173322455	3	4	1	1	0	0	0	0	1	0	0	0	10461	643	23	1	69	1	NLGN1	3	173322455	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	688185	173322455	24699975	324	324											
PIK3CA	5290	broad.mit.edu	37	chr3	178916726	178916726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgactttagaatgcctccGtgaggctacattaataacca	8	9	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:178916726G>A	uc003fjk.2	+	2	270	c.113G>A	c.(112-114)CGT>CAT	p.R38H		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	38	PI3K-ABD.		R -> H (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R38H(4)|p.R38S(1)|p.R38G(1)|p.R38C(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAATGCCTCCGTGAGGCTACA	0.393		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916726	G	A	178916726	3	1	1	1	0	0	0	0	1	0	0	0	11913	1145	40	1	115	1	PIK3CA	3	178916726	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	5594271	178916726	19105704	325	325											
NDUFB5	4711	broad.mit.edu	37	chr3	179341807	179341807	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaacttattgatcattctccGaaagcaactcctgacaatta	5	10	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:179341807G>A	uc003fkc.2	+	6	578	c.549G>A	c.(547-549)CCG>CCA	p.P183P	NDUFB5_uc003fkd.2_RNA|NDUFB5_uc003fke.2_Silent_p.P131P	NM_002492	NP_002483	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	183					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			skin(1)	1	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	ATCATTCTCCGAAAGCAACTC	0.338													A	179341807	G	A	179341807	2	1	1	1	0	0	0	0	0	0	0	1	10284	1045	37	1		1	NDUFB5	3	179341807	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	425081	179341807	18680623	326	326											
CCDC39	339829	broad.mit.edu	37	chr3	180349276	180349276	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttattacataataggccTgtgttttctcctcttctcct	4	12	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:180349276T>C	uc010hxe.2	-	14	2094	c.1979A>G	c.(1978-1980)CAG>CGG	p.Q660R	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	660					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATAATAGGCCTGTGTTTTCTC	0.338													C	180349276	T	C	180349276	3	2	1	1	0	0	0	0	1	0	0	0	2811	1580	55	3	874	3	CCDC39	3	180349276	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1007469	180349276	17673154	327	327											
MCF2L2	23101	broad.mit.edu	37	chr3	182933788	182933788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactgctgctaggtccacaGccaactcacaggacttgatc	8	14	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:182933788G>A	uc003fli.1	-	22	2555	c.2465C>T	c.(2464-2466)GCT>GTT	p.A822V		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	822	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TAGGTCCACAGCCAACTCACA	0.458													A	182933788	G	A	182933788	3	1	1	1	0	0	0	0	1	0	0	0	9380	971	34	2	915	2	MCF2L2	3	182933788	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2584512	182933788	15088642	328	328											
KLHL6	89857	broad.mit.edu	37	chr3	183226231	183226231	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagccagcctcagtattccAacgcagttttctgggttcaa	8	12	4	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:183226231A>G	uc003flr.2	-	3	583	c.525T>C	c.(523-525)GTT>GTC	p.V175V	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Silent_p.V173V	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	175	BACK.									haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TCAGTATTCCAACGCAGTTTT	0.433													G	183226231	A	G	183226231	2	3	1	1	0	0	0	0	0	0	0	1	8393	117	5	3		3	KLHL6	3	183226231	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	292443	183226231	14796199	329	329											
YEATS2	55689	broad.mit.edu	37	chr3	183446626	183446626	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctagctataaaccaaatgacCttgtggaagttaggtaagca	9	7	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:183446626C>A	uc003fly.2	+	7	994	c.799C>A	c.(799-801)CTT>ATT	p.L267I		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	267	YEATS.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ACCAAATGACCTTGTGGAAGT	0.378													A	183446626	C	A	183446626	3	1	1	1	0	0	0	0	1	0	0	0	17469	681	24	5	821	5	YEATS2	3	183446626	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	220395	183446626	14575804	330	330											
DVL3	1857	broad.mit.edu	37	chr3	183881466	183881466	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgaaggaggagatctcGgatgacaatgccaagctacc	14	8	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:183881466G>A	uc003fms.2	+	2	323	c.183G>A	c.(181-183)TCG>TCA	p.S61S	DVL3_uc011bqw.1_Silent_p.S61S|DVL3_uc003fmt.2_5'UTR|DVL3_uc003fmu.2_5'Flank	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	61	DIX.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			AGGAGATCTCGGATGACAATG	0.567													A	183881466	G	A	183881466	2	1	1	1	0	0	0	0	0	0	0	1	4837	1103	39	1		1	DVL3	3	183881466	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	434840	183881466	14140964	331	331											
PSMD2	5708	broad.mit.edu	37	chr3	184024258	184024258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacaaggacaagaaggaagCccctgctgacatgggagcac	13	10	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:184024258C>T	uc003fnn.1	+	15	1958	c.1925C>T	c.(1924-1926)GCC>GTC	p.A642V	PSMD2_uc011brj.1_Missense_Mutation_p.A483V|PSMD2_uc011brk.1_Missense_Mutation_p.A512V	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	642					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	aagaaggaagCCCCTGCTGAC	0.378													T	184024258	C	T	184024258	3	4	1	1	0	0	0	0	1	0	0	0	12698	739	26	2	1983	2	PSMD2	3	184024258	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	142792	184024258	13998172	332	332											
EIF4G1	1981	broad.mit.edu	37	chr3	184044344	184044344	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcgattctaacaaccagctCtttgcacctggagggcgact	9	12	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:184044344C>A	uc003fnp.2	+	22	3450	c.3252C>A	c.(3250-3252)CTC>CTA	p.L1084L	EIF4G1_uc003fnt.2_Silent_p.L795L|EIF4G1_uc003fnq.2_Silent_p.L997L|EIF4G1_uc003fnr.2_Silent_p.L920L|EIF4G1_uc010hxx.2_Silent_p.L1091L|EIF4G1_uc003fns.2_Silent_p.L1044L|EIF4G1_uc010hxy.2_Silent_p.L1091L|EIF4G1_uc003fnv.3_Silent_p.L1085L|EIF4G1_uc003fnu.3_Silent_p.L1084L|EIF4G1_uc003fnw.2_Silent_p.L1091L|EIF4G1_uc003fnx.2_Silent_p.L889L|EIF4G1_uc003fny.3_Silent_p.L888L|EIF4G1_uc003foa.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1084	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACAACCAGCTCTTTGCACCTG	0.592													A	184044344	C	A	184044344	2	1	1	1	0	0	0	0	0	0	0	1	5036	900	32	5		5	EIF4G1	3	184044344	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	20086	184044344	13978086	333	333											
LIPH	200879	broad.mit.edu	37	chr3	185237031	185237032	+	Frame_Shift_Del	DEL	CT	CT	-													gatacgcagtgatggtgcagCtctctctcagggaagacagg							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:185237030_185237031GCT>G	uc003fpm.3	-	5	895_896	c.785_786AGC>C	c.(784-786)agcfs	p.S262fs	LIPH_uc010hyh.3_Frame_Shift_Del_p.S228fs	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	262					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TGATGGTGCAGCTCTCTCTCAG	0.475													-	185237032	CT	-	185237031	7	5	1	1	0	1	0	1	0	0	0	0	8824	797	28	0	590	0	LIPH	3	185237031	Frame_Shift_Del	DEL	CT	TCGA-B7-5816-01A-21D-1600-08	1192687	185237031	12785399	334	334											
IGF2BP2	10644	broad.mit.edu	37	chr3	185407235	185407235	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggggaccaggatccgcagCgggaaatcaatctgtctggc	15	10	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:185407235C>T	uc003fpo.2	-	6	664	c.585G>A	c.(583-585)CCG>CCA	p.P195P	IGF2BP2_uc010hyi.2_Silent_p.P138P|IGF2BP2_uc010hyj.2_Silent_p.P132P|IGF2BP2_uc010hyk.2_Silent_p.P59P|IGF2BP2_uc010hyl.2_Silent_p.P132P|IGF2BP2_uc003fpp.2_Silent_p.P195P|IGF2BP2_uc003fpq.2_Silent_p.P200P	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding	195	KH 1.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity				0	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGATCCGCAGCGGGAAATCAA	0.622													T	185407235	C	T	185407235	2	4	1	1	0	0	0	0	0	0	0	1	7574	755	27	1		1	IGF2BP2	3	185407235	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	170204	185407235	12615195	335	335											
HRG	3273	broad.mit.edu	37	chr3	186395475	186395475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattggatctgtgtaccgaCtccctcctctaagaaaaggt	8	10	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:186395475C>T	uc003fqq.2	+	7	1404	c.1381C>T	c.(1381-1383)CTC>TTC	p.L461F		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	461	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TGTGTACCGACTCCCTCCTCT	0.547													T	186395475	C	T	186395475	3	4	1	1	0	0	0	0	1	0	0	0	7354	565	20	4	1407	4	HRG	3	186395475	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	988240	186395475	11626955	336	336											
BCL6	604	broad.mit.edu	37	chr3	187447537	187447537	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggggaaggggttggccacaGgcatccggacatcccgaaac	15	11	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:187447537G>T	uc003frp.3	-	5	1113	c.656C>A	c.(655-657)CCT>CAT	p.P219H	BCL6_uc011bsf.1_Missense_Mutation_p.P219H|BCL6_uc010hza.2_Missense_Mutation_p.P117H|BCL6_uc003frq.1_Missense_Mutation_p.P219H	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	219					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GTTGGCCACAGGCATCCGGAC	0.612			T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL								T	187447537	G	T	187447537	3	4	1	1	0	0	0	0	1	0	0	0	1376	1000	35	5	1488	5	BCL6	3	187447537	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1052062	187447537	10574893	337	337											
FGF12	2257	broad.mit.edu	37	chr3	192125831	192125831	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacctggtctccgcctcaccGgcctcttgcggccgctgcag	12	18	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:192125831G>T	uc003fsx.2	-	1	1008	c.182C>A	c.(181-183)CCG>CAG	p.P61Q	FGF12_uc003fsy.2_Intron	NM_021032	NP_066360	P61328	FGF12_HUMAN	fibroblast growth factor 12 isoform 1	61					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			ovary(1)|skin(1)|lung(1)|pancreas(1)	4	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		CCGCCTCACCGGCCTCTTGCG	0.672													T	192125831	G	T	192125831	3	4	1	1	0	0	0	0	1	0	0	0	5841	1116	39	5	569	5	FGF12	3	192125831	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	4678294	192125831	5896599	338	338											
GP5	2814	broad.mit.edu	37	chr3	194118947	194118947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacacacttgcaagctggcGgacaggggaagggctgggcg	18	9	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:194118947G>A	uc003ftv.1	-	2	96	c.65C>T	c.(64-66)CCG>CTG	p.P22L		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	22	LRRNT.|Extracellular (Potential).				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				skin(2)|breast(1)	3	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GCAAGCTGGCGGACAGGGGAA	0.662													A	194118947	G	A	194118947	3	1	1	1	0	0	0	0	1	0	0	0	6583	1116	39	1	1621	1	GP5	3	194118947	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1993116	194118947	3903483	339	339											
C3orf21	152002	broad.mit.edu	37	chr3	194790481	194790481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtgttgcagttcccgtggTagatcttgacgtggccctca	13	10	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:194790481T>C	uc003fum.3	-	4	1253	c.1145A>G	c.(1144-1146)TAC>TGC	p.Y382C	C3orf21_uc003ful.2_Missense_Mutation_p.Y179C|C3orf21_uc003fuk.2_Missense_Mutation_p.Y176C	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	hypothetical protein LOC152002	382						integral to membrane	transferase activity, transferring glycosyl groups				0	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)		GTTCCCGTGGTAGATCTTGAC	0.627													C	194790481	T	C	194790481	3	2	1	1	0	0	0	0	1	0	0	0	2214	1638	57	3	40	3	C3orf21	3	194790481	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	671534	194790481	3231949	340	340											
BDH1	622	broad.mit.edu	37	chr3	197238857	197238857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagtccatggggtggtagCgggtgtagggggtggtggcg	23	4	0	0	rs144840608	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:197238857C>T	uc003fxr.2	-	8	1343	c.941G>A	c.(940-942)CGC>CAC	p.R314H	BDH1_uc003fxs.2_Missense_Mutation_p.R314H|BDH1_uc003fxt.2_Missense_Mutation_p.R227H|BDH1_uc003fxu.2_Missense_Mutation_p.R314H	NM_203314	NP_976059	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	314					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			ovary(1)	1	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	GGGGTGGTAGCGGGTGTAGGG	0.587													T	197238857	C	T	197238857	3	4	1	1	0	0	0	0	1	0	0	0	1390	768	27	1	94	1	BDH1	3	197238857	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2448376	197238857	783573	341	341											
PIGG	54872	broad.mit.edu	37	chr4	524279	524279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccttggcattctgttcacGggcaccaaagacttacttaa	8	11	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:524279G>A	uc003gak.3	+	11	2452	c.2316G>A	c.(2314-2316)ACG>ACA	p.T772T	PIGG_uc003gaj.3_Silent_p.T764T|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Silent_p.T639T|PIGG_uc003gal.3_Silent_p.T683T	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	772	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						TTCTGTTCACGGGCACCAAAG	0.383													A	524279	G	A	524279	2	1	1	1	0	0	0	0	0	0	0	1	11888	1103	39	1		1	PIGG	4	524279	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08		524279	190629997	342	342											
PDE6B	5158	broad.mit.edu	37	chr4	651213	651213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgaacaagctggagaaccGcaaggacatcgcacaggaca	12	10	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:651213G>A	uc003gap.2	+	10	1384	c.1331G>A	c.(1330-1332)CGC>CAC	p.R444H	PDE6B_uc003gao.3_Missense_Mutation_p.R444H|PDE6B_uc011buy.1_Missense_Mutation_p.R165H|uc003gaq.1_5'Flank	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	444					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						CTGGAGAACCGCAAGGACATC	0.597													A	651213	G	A	651213	3	1	1	1	0	0	0	0	1	0	0	0	11646	1087	38	1	1369	1	PDE6B	4	651213	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	126934	651213	190503063	343	343											
CRIPAK	285464	broad.mit.edu	37	chr4	1389482	1389482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcccatgtggagtgcccGcctgctcacacaaagccctg	11	16	1	0	rs138375760	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:1389482G>A	uc003gdf.2	+	1	4143	c.1183G>A	c.(1183-1185)GCC>ACC	p.A395T		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	395	Interaction with PAK1.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGGAGTGCCCGCCTGCTCACA	0.607													A	1389482	G	A	1389482	3	1	1	1	0	0	0	0	1	0	0	0	3877	1087	38	1	1185	1	CRIPAK	4	1389482	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	738269	1389482	189764794	344	344											
TACC3	10460	broad.mit.edu	37	chr4	1725278	1725278	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgtcacagaaagaaaatGtgccacccaagaacctggcc	10	11	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:1725278G>T	uc003gdo.2	+	2	238	c.130G>T	c.(130-132)GTG>TTG	p.V44L	TMEM129_uc003gdn.2_5'Flank|TMEM129_uc003gdm.2_5'Flank|TACC3_uc010ibz.2_Missense_Mutation_p.V44L|TACC3_uc003gdp.2_Missense_Mutation_p.V44L	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing	44						centrosome				ovary(1)|central_nervous_system(1)	2		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GAAAGAAAATGTGCCACCCAA	0.483													T	1725278	G	T	1725278	3	4	1	1	0	0	0	0	1	0	0	0	15500	1377	48	5	132	5	TACC3	4	1725278	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	335796	1725278	189428998	345	345											
HTT	3064	broad.mit.edu	37	chr4	3133117	3133117	+	Frame_Shift_Del	DEL	A	A	-													tcgtttttgctaacagggggAaaaaatggtgagtacaaaag							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:3133116_3133116GA>G	uc021xkv.1	+	14	2235	c.2090_2090GA>G	c.(2089-2091)ggafs	p.G697fs		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	697					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTAACAGGGGGAAAAAATGGT	0.478													-	3133117	A	-	3133117	7	5	1	1	0	1	0	1	0	0	0	0	7457	233	9	0	2149	0	HTT	4	3133117	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	1407839	3133117	188021159	346	346											
MAN2B2	23324	broad.mit.edu	37	chr4	6611524	6611524	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatgctcccttctcctccaGgaacatgacagcacagaatt	7	13	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:6611524G>T	uc003gjf.1	+	13	2043	c.2007_splice	c.e13-1	p.R669_splice	MAN2B2_uc003gje.1_Splice_Site_p.R669_splice|MAN2B2_uc011bwf.1_Splice_Site_p.R618_splice	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2						mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						TTCTCCTCCAGGAACATGACA	0.577													T	6611524	G	T	6611524	5	4	1	1	0	0	0	0	0	0	1	0	9217	1014	35	5	2056	5	MAN2B2	4	6611524	Splice_Site	SNP	G	TCGA-B7-5816-01A-21D-1600-08	3478407	6611524	184542752	347	347											
MAN2B2	23324	broad.mit.edu	37	chr4	6612993	6612993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggcccgtggtgctgttcGgagacctcgctggtaaaggg	16	10	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:6612993G>A	uc003gjf.1	+	15	2587	c.2551G>A	c.(2551-2553)GGA>AGA	p.G851R	MAN2B2_uc003gje.1_Missense_Mutation_p.G851R|MAN2B2_uc011bwf.1_Missense_Mutation_p.G800R	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	851					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						GGTGCTGTTCGGAGACCTCGC	0.657													A	6612993	G	A	6612993	3	1	1	1	0	0	0	0	1	0	0	0	9217	1117	39	1	2609	1	MAN2B2	4	6612993	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1469	6612993	184541283	348	348											
BOD1L	259282	broad.mit.edu	37	chr4	13604480	13604480	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtatctactgtgaaaccTtcaccaccttctttgctgtc	7	12	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:13604480T>C	uc003gmz.1	-	10	4161	c.4044A>G	c.(4042-4044)GAA>GAG	p.E1348E	BOD1L_uc010idr.1_Silent_p.E685E	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1348							DNA binding			ovary(5)|breast(1)	6						CTGTGAAACCTTCACCACCTT	0.468													C	13604480	T	C	13604480	2	2	1	1	0	0	0	0	0	0	0	1	1483	1606	56	3		3	BOD1L	4	13604480	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	6991487	13604480	177549796	349	349											
CPEB2	132864	broad.mit.edu	37	chr4	15055785	15055785	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagcttcagaagatttgggcCtttggtagtagattggcctc	12	7	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:15055785C>A	uc003gni.1	+	7	1157	c.1070C>A	c.(1069-1071)CCT>CAT	p.P357H	CPEB2_uc003gnj.1_Missense_Mutation_p.P327H|CPEB2_uc003gnk.1_Missense_Mutation_p.P365H|CPEB2_uc003gnl.1_Missense_Mutation_p.P338H|CPEB2_uc003gnm.1_Missense_Mutation_p.P335H|CPEB2_uc003gnn.1_Missense_Mutation_p.P330H	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding	357	RRM 1.				regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1						AGATTTGGGCCTTTGGTAGTA	0.328													A	15055785	C	A	15055785	3	1	1	1	0	0	0	0	1	0	0	0	3801	681	24	5	2444	5	CPEB2	4	15055785	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1451305	15055785	176098491	350	350											
LDB2	9079	broad.mit.edu	37	chr4	16597436	16597436	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttgagaatgtaatacaGgtcggtcacccctccttcaa	9	10	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:16597436G>A	uc003goz.2	-	3	614	c.298C>T	c.(298-300)CTG>TTG	p.L100L	LDB2_uc003gpa.2_Silent_p.L100L|LDB2_uc003gpb.2_Silent_p.L100L|LDB2_uc011bxh.1_Silent_p.L100L|LDB2_uc010iee.2_Silent_p.L100L|LDB2_uc003goy.2_5'UTR|LDB2_uc011bxi.1_5'UTR	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	100							LIM domain binding|transcription cofactor activity				0						ATGTAATACAGGTCGGTCACC	0.498													A	16597436	G	A	16597436	2	1	1	1	0	0	0	0	0	0	0	1	8696	991	35	4		4	LDB2	4	16597436	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1541651	16597436	174556840	351	351											
SLC34A2	10568	broad.mit.edu	37	chr4	25676133	25676133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtttcccccaggaatcgGcgtgataaccattgagaggg	13	9	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:25676133G>A	uc003grr.2	+	12	1421	c.1340G>A	c.(1339-1341)GGC>GAC	p.G447D	SLC34A2_uc003grs.2_Missense_Mutation_p.G446D|SLC34A2_uc010iev.2_Missense_Mutation_p.G446D	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	447	Extracellular (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)				CCAGGAATCGGCGTGATAACC	0.572													A	25676133	G	A	25676133	3	1	1	1	0	0	0	0	1	0	0	0	14568	1203	42	2	1382	2	SLC34A2	4	25676133	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	9078697	25676133	165478143	352	352											
ARAP2	116984	broad.mit.edu	37	chr4	36130292	36130292	+	Frame_Shift_Del	DEL	T	T	-													atttaaagcttcttgcatccTttttgaaactctccaggagt							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:36130291_36130291CT>C	uc003gsq.2	-	20	3842	c.3504_3504AG>G	c.(3502-3504)aagfs	p.K1168fs		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1168	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTCTTGCATCCTTTTTGAAAC	0.348													-	36130292	T	-	36130292	7	5	1	1	0	1	0	1	0	0	0	0	839	1609	56	0	1663	0	ARAP2	4	36130292	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	10454159	36130292	155023984	353	353											
PTTG2	10744	broad.mit.edu	37	chr4	37962340	37962340	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgccaaaaagatgaccgaGaagactgttaaaacaaaaag	8	7	1	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:37962340G>T	uc011bye.1	+	1	285	c.285G>T	c.(283-285)GAG>GAT	p.E95D	TBC1D1_uc003gtb.2_Intron|TBC1D1_uc011byd.1_Intron|TBC1D1_uc010ifd.2_Intron	NM_006607	NP_006598	Q9NZH5	PTTG2_HUMAN	pituitary tumor-transforming 2	95					chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding				0						AGATGACCGAGAAGACTGTTA	0.403													T	37962340	G	T	37962340	3	4	1	1	0	0	0	0	1	0	0	0	12821	933	33	5	287	5	PTTG2	4	37962340	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1832048	37962340	153191936	354	354											
APBB2	323	broad.mit.edu	37	chr4	41015678	41015678	+	Frame_Shift_Del	DEL	G	G	-													ctcctcatcgctcggtgccaGgttctggatccggtgcagtg							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:41015677_41015677AG>A	uc003gvn.3	-	5	1388	c.758_758CT>T	c.(757-759)ctgfs	p.L253fs	APBB2_uc003gvl.3_Frame_Shift_Del_p.L253fs|APBB2_uc003gvm.3_Frame_Shift_Del_p.L253fs|APBB2_uc011byt.1_Frame_Shift_Del_p.L236fs	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	253					cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GCTCGGTGCCAGGTTCTGGAT	0.592													-	41015678	G	-	41015678	7	5	1	1	0	1	0	1	0	0	0	0	761	991	35	0	1574	0	APBB2	4	41015678	Frame_Shift_Del	DEL	G	TCGA-B7-5816-01A-21D-1600-08	3053338	41015678	150138598	355	355											
GABRA4	2557	broad.mit.edu	37	chr4	46930594	46930594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtttcagctgcatttgcaCggctgaatgggtttggactg	14	7	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:46930594C>T	uc003gxg.2	-	9	1452	c.1313G>A	c.(1312-1314)CGT>CAT	p.R438H		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	438	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGCATTTGCACGGCTGAATGG	0.463													T	46930594	C	T	46930594	3	4	1	1	0	0	0	0	1	0	0	0	6163	536	19	1	355	1	GABRA4	4	46930594	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	5914916	46930594	144223682	356	356											
ATP10D	57205	broad.mit.edu	37	chr4	47525066	47525066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaccgatgctggaaagacGttactgttggggactttatt	12	6	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:47525066G>A	uc003gxk.1	+	4	687	c.523G>A	c.(523-525)GTT>ATT	p.V175I	ATP10D_uc003gxj.3_Missense_Mutation_p.V175I	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	175	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						CTGGAAAGACGTTACTGTTGG	0.353													A	47525066	G	A	47525066	3	1	1	1	0	0	0	0	1	0	0	0	1118	1145	40	1	533	1	ATP10D	4	47525066	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	594472	47525066	143629210	357	357											
TMPRSS11A	339967	broad.mit.edu	37	chr4	68784942	68784942	+	Frame_Shift_Del	DEL	T	T	-													taacagtccattgatgtggaTttttatacctggaaaaggtt							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:68784941_68784941AT>A	uc003hdr.1	-	7	832	c.711_711AT>T	c.(709-711)aatfs	p.N237fs	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Frame_Shift_Del_p.N234fs	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	237	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						ATTGATGTGGATTTTTATACC	0.323													-	68784942	T	-	68784942	7	5	1	1	0	1	0	1	0	0	0	0	16236	1493	52	0	567	0	TMPRSS11A	4	68784942	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	21259876	68784942	122369334	358	358											
UGT2B17	7367	broad.mit.edu	37	chr4	69433933	69433934	+	Frame_Shift_Ins	INS	-	-	A													atctatcgaacattttcataINSaaaaaatcttccaaatcatt							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:69433932_69433933T>TA	uc021xov.1	-	0	313_314	c.270_271A>TA	c.(268-273)tttatgfs	p.F90fs		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	90					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						AACATTTTCATAAAAAAATCTT	0.277													A	69433934	-	A	69433933	7	5	1	1	0	1	1	0	0	0	0	0	16956	359	13	0	1346	0	UGT2B17	4	69433933	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	648991	69433933	121720343	359	359											
ENAM	10117	broad.mit.edu	37	chr4	71508334	71508334	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatcccaattatgcaggaaaTccagcaaatctcagaagaaa	6	9	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:71508334T>A	uc011caw.1	+	9	1472	c.1191T>A	c.(1189-1191)AAT>AAA	p.N397K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	397					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)			ATGCAGGAAATCCAGCAAATC	0.473													A	71508334	T	A	71508334	3	1	1	1	0	0	0	0	1	0	0	0	5112	1432	50	5	1221	5	ENAM	4	71508334	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	2074401	71508334	119645942	360	360											
NPFFR2	10886	broad.mit.edu	37	chr4	72897782	72897782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtggagcaggcagtccgCgggggacagacgtcggctgg	21	9	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:72897782C>T	uc003hgg.2	+	1	262	c.164C>T	c.(163-165)GCG>GTG	p.A55V	NPFFR2_uc010iig.1_5'UTR	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	55	Extracellular (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AGGCAGTCCGCGGGGGACAGA	0.677													T	72897782	C	T	72897782	3	4	1	1	0	0	0	0	1	0	0	0	10578	768	27	1	166	1	NPFFR2	4	72897782	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1389448	72897782	118256494	361	361											
HNRPDL	9987	broad.mit.edu	37	chr4	83347273	83347273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatgccttgccataagtgCtctgttggcctattttgaaa	10	8	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:83347273C>T	uc003hmr.2	-	7	1737	c.1202G>A	c.(1201-1203)AGC>AAC	p.S401N	HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Missense_Mutation_p.S344N	NM_031372	NP_112740	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	401	Necessary for interaction with TNPO1.|Gly-rich.|Necessary for its nuclear import and export.				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			skin(1)	1		Hepatocellular(203;0.114)				GCCATAAGTGCTCTGTTGGCC	0.363													T	83347273	C	T	83347273	3	4	1	1	0	0	0	0	1	0	0	0	7276	797	28	2	64	2	HNRPDL	4	83347273	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	10449491	83347273	107807003	362	362											
HPSE	10855	broad.mit.edu	37	chr4	84230574	84230574	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctggaaaactttttgcacaGatgaaataaaaatgtccaat	6	7	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:84230574G>A	uc003hoj.3	-	7	1064	c.965C>T	c.(964-966)TCT>TTT	p.S322F	HPSE_uc010ika.2_Missense_Mutation_p.S264F|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.S65F|HPSE_uc011cct.1_Missense_Mutation_p.S322F|HPSE_uc003hok.3_Missense_Mutation_p.S322F	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN	heparanase precursor	322					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	TTTTTGCACAGATGAAATAAA	0.299													A	84230574	G	A	84230574	3	1	1	1	0	0	0	0	1	0	0	0	7344	942	33	4	690	4	HPSE	4	84230574	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	883301	84230574	106923702	363	363											
ADH1A	124	broad.mit.edu	37	chr4	100205628	100205628	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacagactttctctagaggCgaggctgcatcaattttggc	11	9	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:100205628C>T	uc003hur.1	-	5	566	c.495G>A	c.(493-495)TCG>TCA	p.S165S	uc003hum.1_Intron|ADH1A_uc011ceg.1_Silent_p.S165S|ADH1A_uc010ilf.1_5'UTR	NM_000667	NP_000658	P07327	ADH1A_HUMAN	class I alcohol dehydrogenase, alpha subunit	165					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TCTCTAGAGGCGAGGCTGCAT	0.478													T	100205628	C	T	100205628	2	4	1	1	0	0	0	0	0	0	0	1	307	755	27	1		1	ADH1A	4	100205628	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	15975054	100205628	90948648	364	364											
TACR3	6870	broad.mit.edu	37	chr4	104640800	104640800	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccacgcctccacccccgtcTatccaggtttctgctgctgg	8	19	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:104640800T>C	uc003hxe.1	-	1	176	c.33A>G	c.(31-33)ATA>ATG	p.I11M		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	11	Extracellular (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CACCCCCGTCTATCCAGGTTT	0.677													C	104640800	T	C	104640800	3	2	1	1	0	0	0	0	1	0	0	0	15504	1512	53	3	1384	3	TACR3	4	104640800	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	4435172	104640800	86513476	365	365											
GSTCD	79807	broad.mit.edu	37	chr4	106638749	106638749	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacttcaatttatactttaGgtgacccaatgaaagaagaa	6	7	2	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:106638749G>A	uc003hxz.3	+	2	52	c.-20_splice	c.e2-1		GSTCD_uc003hxx.2_Splice_Site|GSTCD_uc003hxy.3_Splice_Site|GSTCD_uc011cfb.1_Intron|GSTCD_uc010ils.1_Splice_Site	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain							cytoplasm	rRNA methyltransferase activity			breast(1)|central_nervous_system(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TTATACTTTAGGTGACCCAAT	0.313													A	106638749	G	A	106638749	5	1	1	1	0	0	0	0	0	0	1	0	6835	1014	35	4		4	GSTCD	4	106638749	Splice_Site	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1997949	106638749	84515527	366	366											
DKK2	27123	broad.mit.edu	37	chr4	107845346	107845346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctgatgatcgtaggcagGggtctccttcatgccctgca	12	11	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:107845346G>A	uc003hyi.2	-	4	1250	c.545C>T	c.(544-546)CCC>CTC	p.P182L	DKK2_uc003hyj.1_3'UTR	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	182					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TCGTAGGCAGGGGTCTCCTTC	0.433													A	107845346	G	A	107845346	3	1	1	1	0	0	0	0	1	0	0	0	4545	1232	43	4	238	4	DKK2	4	107845346	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1206597	107845346	83308930	367	367											
LRIT3	345193	broad.mit.edu	37	chr4	110789030	110789030	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagtaatgttctactgcggTgtgatgccactggcttcccc	11	12	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:110789030T>C	uc003hzx.3	+	2	881	c.688T>C	c.(688-690)TGT>CGT	p.C230R	LRIT3_uc003hzw.3_Missense_Mutation_p.C92R	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and	230	Ig-like.					integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TCTACTGCGGTGTGATGCCAC	0.478													C	110789030	T	C	110789030	3	2	1	1	0	0	0	0	1	0	0	0	8949	1696	59	3	694	3	LRIT3	4	110789030	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	2943684	110789030	80365246	368	368											
ALPK1	80216	broad.mit.edu	37	chr4	113333128	113333128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaagttgcagccagccaCgccaattgccccgcaggtgg	11	16	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:113333128C>T	uc003iap.3	+	5	701	c.422C>T	c.(421-423)ACG>ATG	p.T141M	ALPK1_uc011cfw.1_RNA|ALPK1_uc003ian.3_Missense_Mutation_p.T141M|ALPK1_uc011cfx.1_Missense_Mutation_p.T63M|ALPK1_uc003iao.3_RNA|ALPK1_uc003iaq.2_Missense_Mutation_p.T85M|ALPK1_uc010imo.2_Translation_Start_Site|ALPK1_uc003iar.2_Missense_Mutation_p.T111M	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	141							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAGCCAGCCACGCCAATTGCC	0.597													T	113333128	C	T	113333128	3	4	1	1	0	0	0	0	1	0	0	0	544	536	19	1	432	1	ALPK1	4	113333128	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2544098	113333128	77821148	369	369											
C4orf21	55345	broad.mit.edu	37	chr4	113462384	113462384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatagcactgattgcaggaTgacaacggtattgagttctc	10	8	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:113462384T>C	uc003iau.2	-	25	5850	c.5639A>G	c.(5638-5640)CAT>CGT	p.H1880R	C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_Missense_Mutation_p.H338R	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	702						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GATTGCAGGATGACAACGGTA	0.358													C	113462384	T	C	113462384	3	2	1	1	0	0	0	0	1	0	0	0	2254	1464	51	3	691	3	C4orf21	4	113462384	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	129256	113462384	77691892	370	370											
ANK2	287	broad.mit.edu	37	chr4	114290805	114290805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagaccccaacatccagCgagcggggaggctctcccat	10	17	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:114290805C>T	uc003ibe.3	+	43	11554	c.11454C>T	c.(11452-11454)AGC>AGT	p.S3818S	ANK2_uc003ibd.3_Silent_p.S1724S|ANK2_uc003ibf.3_Silent_p.S1733S|ANK2_uc011cgc.1_Silent_p.S909S|ANK2_uc003ibg.3_Silent_p.S717S|ANK2_uc003ibh.3_Silent_p.S407S|ANK2_uc011cgd.1_Silent_p.S1120S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3785					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)		CAACATCCAGCGAGCGGGGAG	0.567													T	114290805	C	T	114290805	2	4	1	1	0	0	0	0	0	0	0	1	621	767	27	1		1	ANK2	4	114290805	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	828421	114290805	76863471	371	371											
SEC24D	9871	broad.mit.edu	37	chr4	119665262	119665262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagagcagccgtgagccaCgcagtccttggccaatgagt	12	13	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:119665262C>T	uc003ici.3	-	15	2148	c.1876G>A	c.(1876-1878)GTG>ATG	p.V626M	SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Missense_Mutation_p.V627M|SEC24D_uc003icl.2_RNA	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	626					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0						CCGTGAGCCACGCAGTCCTTG	0.448													T	119665262	C	T	119665262	3	4	1	1	0	0	0	0	1	0	0	0	13997	536	19	1	1258	1	SEC24D	4	119665262	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	5374457	119665262	71489014	372	372											
TRPC3	7222	broad.mit.edu	37	chr4	122833134	122833134	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgtgatattgggcagcgTggtgatgccttcgaacctgt	13	8	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:122833134T>G	uc003ieg.2	-	5	1530	c.1456A>C	c.(1456-1458)ACG>CCG	p.T486P	TRPC3_uc010inr.2_Missense_Mutation_p.T358P|TRPC3_uc003ief.2_Missense_Mutation_p.T413P|TRPC3_uc011cgl.1_Missense_Mutation_p.T150P	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	401	Cytoplasmic (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						TTGGGCAGCGTGGTGATGCCT	0.458													G	122833134	T	G	122833134	3	3	1	1	0	0	0	0	1	0	0	0	16576	1696	59	5	1341	5	TRPC3	4	122833134	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	3167872	122833134	68321142	373	373											
KIAA1109	84162	broad.mit.edu	37	chr4	123156162	123156162	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggataattactaaagaaatTcccaaaattatagatggtaa	6	4	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:123156162T>C	uc003ieh.2	+	25	3603	c.3558T>C	c.(3556-3558)ATT>ATC	p.I1186I	KIAA1109_uc003iei.1_Silent_p.I939I|KIAA1109_uc010ins.1_Silent_p.I529I	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1186					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CTAAAGAAATTCCCAAAATTA	0.358													C	123156162	T	C	123156162	2	2	1	1	0	0	0	0	0	0	0	1	8208	1771	62	3		3	KIAA1109	4	123156162	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	323028	123156162	67998114	374	374											
KIAA1109	84162	broad.mit.edu	37	chr4	123165029	123165029	+	Frame_Shift_Del	DEL	A	A	-													tacgccgtatactccattggAaaaaaaactcgctgataaca							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:123165028_123165028GA>G	uc003ieh.3	+	28	4807	c.4762_4762GA>G	c.(4762-4764)gaafs	p.E1588fs	KIAA1109_uc003iek.2_Frame_Shift_Del_p.E207fs	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1588					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TACTCCATTGGAAAAAAAACT	0.383													-	123165029	A	-	123165029	7	5	1	1	0	1	0	1	0	0	0	0	8208	246	9	0	4877	0	KIAA1109	4	123165029	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	8867	123165029	67989247	375	375											
KIAA1109	84162	broad.mit.edu	37	chr4	123176338	123176338	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atacaacaggcttacaaaagTtgctcgctttctccaagaaa	6	10	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:123176338T>C	uc003ieh.2	+	38	6323	c.6278T>C	c.(6277-6279)GTT>GCT	p.V2093A	KIAA1109_uc003iel.1_Missense_Mutation_p.V28A|KIAA1109_uc003iek.2_Missense_Mutation_p.V712A	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2093					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CTTACAAAAGTTGCTCGCTTT	0.338													C	123176338	T	C	123176338	3	2	1	1	0	0	0	0	1	0	0	0	8208	1725	60	3	6428	3	KIAA1109	4	123176338	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	11309	123176338	67977938	376	376											
KIAA1109	84162	broad.mit.edu	37	chr4	123202735	123202736	+	Frame_Shift_Ins	INS	-	-	A													gcaaccccactaccttctgaINSaaaaaccccaacaagtgtta							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:123202734_123202735G>GA	uc003ieh.3	+	49	8887_8888	c.8842_8843G>GA	c.(8842-8844)gaafs	p.E2948fs	KIAA1109_uc003iel.1_Frame_Shift_Ins_p.E883fs	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2948					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACTACCTTCTGAAAAAACCCCA	0.342													A	123202736	-	A	123202735	7	5	1	1	0	1	1	0	0	0	0	0	8208	246	9	0	9041	0	KIAA1109	4	123202735	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	26397	123202735	67951541	377	377											
FAT4	79633	broad.mit.edu	37	chr4	126372586	126372586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaattagatcgagaaaCccttcccatctataatctct	5	11	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:126372586C>T	uc003ifj.3	+	9	10415	c.10415C>T	c.(10414-10416)ACC>ATC	p.T3472I	FAT4_uc011cgp.1_Missense_Mutation_p.T1770I|FAT4_uc003ifi.1_Missense_Mutation_p.T950I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3472	Cadherin 33.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GATCGAGAAACCCTTCCCATC	0.428													T	126372586	C	T	126372586	3	4	1	1	0	0	0	0	1	0	0	0	5692	507	18	4	10449	4	FAT4	4	126372586	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3169851	126372586	64781690	378	378											
RNF150	57484	broad.mit.edu	37	chr4	141832415	141832415	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgaactttcattcactgTtgtgtcgctggcacctgtga	10	10	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:141832415T>G	uc003iio.1	-	6	1735	c.1081A>C	c.(1081-1083)ACA>CCA	p.T361P	RNF150_uc010iok.1_Missense_Mutation_p.T319P|RNF150_uc003iip.1_Missense_Mutation_p.T361P	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	ring finger protein 150 precursor	361	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1	all_hematologic(180;0.162)					TCATTCACTGTTGTGTCGCTG	0.592													G	141832415	T	G	141832415	3	3	1	1	0	0	0	0	1	0	0	0	13451	1725	60	5	243	5	RNF150	4	141832415	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	15459829	141832415	49321861	379	379											
SMAD1	4086	broad.mit.edu	37	chr4	146474973	146474973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggaggggaggtgtatgcCgaatgccttagtgacagtag	17	5	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:146474973C>T	uc003ikc.2	+	6	1451	c.1035C>T	c.(1033-1035)GCC>GCT	p.A345A	SMAD1_uc003ikd.2_Silent_p.A345A|SMAD1_uc010iov.2_Silent_p.A345A|SMAD1_uc011cic.1_Silent_p.A306A	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Sma- and Mad-related protein 1	345	MH2.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			ovary(1)	1	all_hematologic(180;0.151)					AGGTGTATGCCGAATGCCTTA	0.408													T	146474973	C	T	146474973	2	4	1	1	0	0	0	0	0	0	0	1	14757	639	23	1		1	SMAD1	4	146474973	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	4642558	146474973	44679303	380	380											
TLR2	7097	broad.mit.edu	37	chr4	154624401	154624401	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctataattacttatctaaTttatcgtcttcctggttcaa	3	9	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:154624401T>C	uc003inq.2	+	3	561	c.342T>C	c.(340-342)AAT>AAC	p.N114N	TLR2_uc003inr.2_Silent_p.N114N|TLR2_uc003ins.2_Silent_p.N114N	NM_003264	NP_003255	O60603	TLR2_HUMAN	toll-like receptor 2 precursor	114	LRR 3.|Extracellular (Potential).			N->S: Prevents addition of N-glycans. Reduces secretion of the N-terminal ectodomain.	cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			ovary(1)|lung(1)|breast(1)	3	all_hematologic(180;0.093)	Renal(120;0.117)				ACTTATCTAATTTATCGTCTT	0.363													C	154624401	T	C	154624401	2	2	1	1	0	0	0	0	0	0	0	1	15948	1490	52	3		3	TLR2	4	154624401	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	8149428	154624401	36529875	381	381											
LRAT	9227	broad.mit.edu	37	chr4	155665738	155665738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgacagacgacatggggcGcacgcagaaggtggtctcca	14	12	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:155665738G>A	uc003iom.1	+	1	587	c.260G>A	c.(259-261)CGC>CAC	p.R87H	uc003iol.2_Intron|LRAT_uc003ion.1_Missense_Mutation_p.R87H	NM_004744	NP_004735	O95237	LRAT_HUMAN	lecithin retinol acyltransferase	87	Cytoplasmic (By similarity).				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)	1	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GACATGGGGCGCACGCAGAAG	0.597													A	155665738	G	A	155665738	3	1	1	1	0	0	0	0	1	0	0	0	8930	1087	38	1	262	1	LRAT	4	155665738	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1041337	155665738	35488538	382	382											
FNIP2	57600	broad.mit.edu	37	chr4	159790317	159790317	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actagaggtttgtatgtgaaGgctgcggaaggacctgtgct	15	6	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:159790317G>T	uc003iqe.3	+	13	2712	c.2529G>T	c.(2527-2529)AAG>AAT	p.K843N		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	843	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TGTATGTGAAGGCTGCGGAAG	0.647													T	159790317	G	T	159790317	3	4	1	1	0	0	0	0	1	0	0	0	5976	991	35	5	2579	5	FNIP2	4	159790317	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	4124579	159790317	31363959	383	383											
SC4MOL	6307	broad.mit.edu	37	chr4	166259034	166259034	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcctttgatttgtggaaccTattattttacagagtatttc	7	6	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:166259034T>C	uc003ire.2	+	3	479	c.349T>C	c.(349-351)TAT>CAT	p.Y117H	SC4MOL_uc010irb.2_Missense_Mutation_p.Y117H|SC4MOL_uc003irf.2_5'UTR	NM_006745	NP_006736	Q15800	ERG25_HUMAN	sterol-C4-methyl oxidase-like isoform 1	117	Helical; (Potential).				cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding				0	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0875)	NADH(DB00157)	TTGTGGAACCTATTATTTTAC	0.358													C	166259034	T	C	166259034	3	2	1	1	0	0	0	0	1	0	0	0	13865	1522	53	3	355	3	SC4MOL	4	166259034	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	6468717	166259034	24895242	384	384											
TLL1	7092	broad.mit.edu	37	chr4	167020518	167020518	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acaactacccaggacaggttGactgtgaatggctattagta	10	8	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:167020518G>A	uc003irh.1	+	20	3393	c.2746G>A	c.(2746-2748)GAC>AAC	p.D916N	TLL1_uc011cjn.1_Missense_Mutation_p.D939N|TLL1_uc011cjo.1_Missense_Mutation_p.D740N	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	916	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGGACAGGTTGACTGTGAATG	0.458													A	167020518	G	A	167020518	3	1	1	1	0	0	0	0	1	0	0	0	15942	1290	45	4	2824	4	TLL1	4	167020518	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	761484	167020518	24133758	385	385											
SPOCK3	50859	broad.mit.edu	37	chr4	167921617	167921617	+	Splice_Site	DEL	A	A	-													ccttagctggatctaaagctAaaaaaattgcaaagaaaata							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:167921616_167921616TA>T	uc011cjq.1	-	3	329	c.272_splice	c.e3-1	p.A91_splice	SPOCK3_uc021xuf.1_Splice_Site_p.A82_splice|SPOCK3_uc011cjr.1_Intron|SPOCK3_uc003iri.1_Splice_Site_p.A82_splice|SPOCK3_uc011cjs.1_Splice_Site_p.A31_splice|SPOCK3_uc003irj.1_Splice_Site_p.A79_splice|SPOCK3_uc011cjt.1_Splice_Site|SPOCK3_uc011cjp.2_Splice_Site_p.A79_splice|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.4_Splice_Site_p.A79_splice|SPOCK3_uc011cjw.1_Splice_Site	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	82					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		GATCTAAAGCTAAAAAAATTG	0.338													-	167921617	A	-	167921617	8	5	1	1	0	1	0	1	0	0	1	0	15080	377	13	0		0	SPOCK3	4	167921617	Splice_Site	DEL	A	TCGA-B7-5816-01A-21D-1600-08	901099	167921617	23232659	386	386											
MFAP3L	9848	broad.mit.edu	37	chr4	170912709	170912709	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtttcgggggaatgttcCgccgacagttctgtctcctc	12	12	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:170912709C>T	uc003isp.3	-	3	1228	c.1050G>A	c.(1048-1050)GCG>GCA	p.A350A	MFAP3L_uc003isn.3_Silent_p.A247A	NM_021647	NP_067679	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like isoform	350	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		GGGAATGTTCCGCCGACAGTT	0.502													T	170912709	C	T	170912709	2	4	1	1	0	0	0	0	0	0	0	1	9516	639	23	1		1	MFAP3L	4	170912709	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2991092	170912709	20241567	387	387											
KIAA1712	80817	broad.mit.edu	37	chr4	175225417	175225417	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gattccatcacaacaaagaaAgaaaatcagttctggtaagt	7	7	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:175225417A>C	uc003itr.2	+	6	818	c.404A>C	c.(403-405)AAG>ACG	p.K135T	KIAA1712_uc010iro.2_Missense_Mutation_p.K135T|KIAA1712_uc003its.2_RNA	NM_001040157	NP_001035247	Q9C0F1	CEP44_HUMAN	HBV PreS1-transactivated protein 3 isoform a	135						centrosome|midbody|spindle pole					0		Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949)		CAACAAAGAAAGAAAATCAGT	0.323													C	175225417	A	C	175225417	3	2	1	1	0	0	0	0	1	0	0	0	8253	72	3	5	418	5	KIAA1712	4	175225417	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	4312708	175225417	15928859	388	388											
WDR17	116966	broad.mit.edu	37	chr4	177017731	177017731	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgattggtatgaaggactaCaaagagtaagatacatttac	9	4	0	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:177017731C>G	uc003iuj.2	+	2	217	c.61C>G	c.(61-63)CAA>GAA	p.Q21E	WDR17_uc003iuk.2_Intron|WDR17_uc003ium.3_Intron|WDR17_uc003iul.1_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	21										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		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;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGAAGGACTACAAAGAGTAAG	0.338													G	177017731	C	G	177017731	3	3	1	1	0	0	0	0	1	0	0	0	17274	479	17	5	63	5	WDR17	4	177017731	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1792314	177017731	14136545	389	389											
ODZ3	55714	broad.mit.edu	37	chr4	183609430	183609430	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagagcctgccacccccgctGtgccgagcacgggacctgca	13	17	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:183609430G>T	uc003ivd.1	+	11	2184	c.2147G>T	c.(2146-2148)TGT>TTT	p.C716F	ODZ3_uc003ive.1_Missense_Mutation_p.C122F	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	716	Extracellular (Potential).|EGF-like 7.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CACCCCCGCTGTGCCGAGCAC	0.612													T	183609430	G	T	183609430	3	4	1	1	0	0	0	0	1	0	0	0	10836	1377	48	5	2189	5	ODZ3	4	183609430	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	6591699	183609430	7544846	390	390											
ODZ3	55714	broad.mit.edu	37	chr4	183664511	183664511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggcagtctgtacgtaggcGatttcaactatgtgcggcgg	14	8	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:183664511G>A	uc003ivd.1	+	18	3605	c.3568G>A	c.(3568-3570)GAT>AAT	p.D1190N	ODZ3_uc003ive.1_Missense_Mutation_p.D596N	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1190	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GTACGTAGGCGATTTCAACTA	0.468													A	183664511	G	A	183664511	3	1	1	1	0	0	0	0	1	0	0	0	10836	1058	37	1	3638	1	ODZ3	4	183664511	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	55081	183664511	7489765	391	391											
WWC2	80014	broad.mit.edu	37	chr4	184175055	184175055	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcaccccacagaaacgtAcccaagatgaattagaacgc	7	13	1	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:184175055A>G	uc010irx.2	+	9	1281	c.1099A>G	c.(1099-1101)ACC>GCC	p.T367A	WWC2_uc003ivk.3_Missense_Mutation_p.T162A|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Missense_Mutation_p.T49A	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	367	Potential.									ovary(2)|lung(1)	3		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		ACAGAAACGTACCCAAGATGA	0.483													G	184175055	A	G	184175055	3	3	1	1	0	0	0	0	1	0	0	0	17409	391	14	3	1133	3	WWC2	4	184175055	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	510544	184175055	6979221	392	392											
C4orf41	60684	broad.mit.edu	37	chr4	184622874	184622874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacagactggagagagtgCtagtgaatgcttttgtcttc	11	7	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:184622874C>T	uc003ivx.2	+	26	3052	c.2876C>T	c.(2875-2877)GCT>GTT	p.A959V	C4orf41_uc003ivw.2_Missense_Mutation_p.A959V|C4orf41_uc010isc.2_Missense_Mutation_p.A303V|C4orf41_uc003ivy.2_Missense_Mutation_p.A565V	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	959											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		GGAGAGAGTGCTAGTGAATGC	0.373													T	184622874	C	T	184622874	3	4	1	1	0	0	0	0	1	0	0	0	2270	797	28	2	2974	2	C4orf41	4	184622874	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	447819	184622874	6531402	393	393											
IRF2	3660	broad.mit.edu	37	chr4	185339701	185339701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttacctttcttagaaggccGttctgataggggcagcattc	10	9	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:185339701G>A	uc003iwf.3	-	4	549	c.349C>T	c.(349-351)CGG>TGG	p.R117W		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	117					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TTAGAAGGCCGTTCTGATAGG	0.403													A	185339701	G	A	185339701	3	1	1	1	0	0	0	0	1	0	0	0	7828	1144	40	1	724	1	IRF2	4	185339701	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	716827	185339701	5814575	394	394											
CCDC110	256309	broad.mit.edu	37	chr4	186381154	186381154	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgataaaagttattataaTtcttcaagatgtcagaattt	5	4	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:186381154T>C	uc003ixu.3	-	6	663	c.587A>G	c.(586-588)AAT>AGT	p.N196S	CCDC110_uc003ixv.3_Missense_Mutation_p.N159S|CCDC110_uc011ckt.1_Missense_Mutation_p.N196S	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	196						nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		GTTATTATAATTCTTCAAGAT	0.333													C	186381154	T	C	186381154	3	2	1	1	0	0	0	0	1	0	0	0	2747	1493	52	3	1922	3	CCDC110	4	186381154	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1041453	186381154	4773122	395	395											
MTNR1A	4543	broad.mit.edu	37	chr4	187455155	187455155	+	Frame_Shift_Del	DEL	A	A	-													agaggagcccagcaaatggcAaaaaggacaaaaaccacaaa							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:187455154_187455154CA>C	uc003izd.1	-	1	760	c.742_742TG>G	c.(742-744)gccfs	p.A248fs		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	248					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	CAGCAAATGGCAAAAAGGACA	0.527													-	187455155	A	-	187455155	7	5	1	1	0	1	0	1	0	0	0	0	9951	127	5	0	315	0	MTNR1A	4	187455155	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	1074001	187455155	3699121	396	396											
ZFP42	132625	broad.mit.edu	37	chr4	188924074	188924074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaagccaagacctgcaggCggaaatagaacctgtcagcg	12	11	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:188924074C>T	uc003izg.1	+	3	358	c.113C>T	c.(112-114)GCG>GTG	p.A38V	ZFP42_uc003izh.1_Missense_Mutation_p.A38V|ZFP42_uc003izi.1_Missense_Mutation_p.A38V	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	38					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GACCTGCAGGCGGAAATAGAA	0.572													T	188924074	C	T	188924074	3	4	1	1	0	0	0	0	1	0	0	0	17647	768	27	1	115	1	ZFP42	4	188924074	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1468919	188924074	2230202	397	397											
PLEKHG4B	153478	broad.mit.edu	37	chr5	156192	156192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatcccgtgcaggaagtcGccgagttaattgaccagcat	10	13	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:156192G>A	uc003jak.2	+	8	1197	c.1147G>A	c.(1147-1149)GCC>ACC	p.A383T		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	383					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GCAGGAAGTCGCCGAGTTAAT	0.572													A	156192	G	A	156192	3	1	1	1	0	0	0	0	1	0	0	0	12072	1087	38	1	1177	1	PLEKHG4B	5	156192	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08		156192	180759068	398	398											
CCT5	22948	broad.mit.edu	37	chr5	10258614	10258614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataaagcccttcagaaataCgaaaaggagaaatttgaaga	8	5	1	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:10258614C>T	uc003jeq.2	+	6	1011	c.840C>T	c.(838-840)TAC>TAT	p.Y280Y	CCT5_uc011cmq.1_Silent_p.Y127Y|CCT5_uc003jer.2_Silent_p.Y280Y|CCT5_uc010its.2_Silent_p.Y280Y|CCT5_uc011cmr.1_Silent_p.Y225Y|CCT5_uc011cms.1_Silent_p.Y242Y|CCT5_uc011cmt.1_Silent_p.Y187Y	NM_012073	NP_036205	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	280					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			ovary(2)	2						TTCAGAAATACGAAAAGGAGA	0.383													T	10258614	C	T	10258614	2	4	1	1	0	0	0	0	0	0	0	1	2956	547	19	1		1	CCT5	5	10258614	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	10102422	10258614	170656646	399	399											
DNAH5	1767	broad.mit.edu	37	chr5	13841161	13841162	+	Frame_Shift_Ins	INS	-	-	T													tgattagttttctgcatgatINSttttttatcaaacttggcat							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:13841160_13841161A>AT	uc003jfd.2	-	33	5605_5606	c.5563_5564T>AT	c.(5563-5565)atcfs	p.I1855fs		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1855	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I1855M(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTCTGCATGATTTTTTTATCA	0.396									Kartagener syndrome				T	13841162	-	T	13841161	7	5	1	1	0	1	1	0	0	0	0	0	4604	1493	52	0	8495	0	DNAH5	5	13841161	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	3582547	13841161	167074099	400	400											
ZNF622	90441	broad.mit.edu	37	chr5	16463215	16463215	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatattacaaactatgcttAcctaaaatcatagaagtctg	4	8	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:16463215A>G	uc003jfq.2	-	3	1169	c.1049_splice	c.e3+1	p.R350_splice		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	zinc finger protein 622							cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						AACTATGCTTACCTAAAATCA	0.284													G	16463215	A	G	16463215	5	3	1	1	0	0	0	0	0	0	1	0	18043	405	14	3	398	3	ZNF622	5	16463215	Splice_Site	SNP	A	TCGA-B7-5816-01A-21D-1600-08	2622054	16463215	164452045	401	401											
PDZD2	23037	broad.mit.edu	37	chr5	32090692	32090692	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttccggcagcattgtttccGggagcctgggccacccaggt	13	14	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:32090692G>T	uc003jhl.2	+	20	7526	c.7138G>T	c.(7138-7140)GGG>TGG	p.G2380W	PDZD2_uc003jhm.2_Missense_Mutation_p.G2380W	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	2380					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CATTGTTTCCGGGAGCCTGGG	0.617													T	32090692	G	T	32090692	3	4	1	1	0	0	0	0	1	0	0	0	11701	1116	39	5	7212	5	PDZD2	5	32090692	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	15627477	32090692	148824568	402	402											
NPR3	4883	broad.mit.edu	37	chr5	32712358	32712358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccatgctgtcggctggggCgctggccgctggcttccagc	16	15	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:32712358C>T	uc003jhv.2	+	1	694	c.476C>T	c.(475-477)GCG>GTG	p.A159V	NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.A159V	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	159	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	TCGGCTGGGGCGCTGGCCGCT	0.667													T	32712358	C	T	32712358	3	4	1	1	0	0	0	0	1	0	0	0	10596	768	27	1	478	1	NPR3	5	32712358	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	621666	32712358	148202902	403	403											
NUP155	9631	broad.mit.edu	37	chr5	37364349	37364349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatacaaagtaataggatacGtccaaactgctcaacaagtt	6	8	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:37364349G>A	uc003jku.1	-	2	413	c.295C>T	c.(295-297)CAT>TAT	p.H99Y	NUP155_uc003jkt.1_Missense_Mutation_p.H40Y|NUP155_uc010iuz.1_Missense_Mutation_p.H99Y	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	99					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATAGGATACGTCCAAACTGC	0.343													A	37364349	G	A	37364349	3	1	1	1	0	0	0	0	1	0	0	0	10756	1159	40	1	4016	1	NUP155	5	37364349	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	4651991	37364349	143550911	404	404											
EGFLAM	133584	broad.mit.edu	37	chr5	38438416	38438416	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatccatgtgaagcatgacTtcacctccggagtgaatgtg	10	11	1	3	rs143262017		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:38438416T>C	uc003jlc.1	+	17	2647	c.2323T>C	c.(2323-2325)TTC>CTC	p.F775L	EGFLAM_uc003jlb.1_Missense_Mutation_p.F775L|EGFLAM_uc003jle.1_Missense_Mutation_p.F541L|EGFLAM_uc003jlf.1_Missense_Mutation_p.F141L	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	775	Laminin G-like 2.			F -> L (in Ref. 2; CAH56137).		cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					GAAGCATGACTTCACCTCCGG	0.498													C	38438416	T	C	38438416	3	2	1	1	0	0	0	0	1	0	0	0	4966	1609	56	3	2403	3	EGFLAM	5	38438416	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1074067	38438416	142476844	405	405											
C6	729	broad.mit.edu	37	chr5	41149516	41149516	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatttctcagccaaaaacTtacaagcgggtgaagtaaag	8	8	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:41149516T>G	uc003jmk.2	-	17	2660	c.2450A>C	c.(2449-2451)AAG>ACG	p.K817T	C6_uc003jml.1_Missense_Mutation_p.K817T	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	817	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.K817R(1)		ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGCCAAAAACTTACAAGCGGG	0.423													G	41149516	T	G	41149516	3	3	1	1	0	0	0	0	1	0	0	0	2315	1609	56	5	362	5	C6	5	41149516	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	2711100	41149516	139765744	406	406											
PELO	53918	broad.mit.edu	37	chr5	52097317	52097317	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtggctagccgcctttcAgacactaaagctgctgggga	12	11	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:52097317A>G	uc003jos.2	+	3	1786	c.801A>G	c.(799-801)TCA>TCG	p.S267S	ITGA1_uc003jov.2_Intron|ITGA1_uc003jou.2_Intron|PELO_uc003jot.1_Intron	NM_015946	NP_057030	Q9BRX2	PELO_HUMAN	pelota homolog	267					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding				0		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GCCGCCTTTCAGACACTAAAG	0.478													G	52097317	A	G	52097317	2	3	1	1	0	0	0	0	0	0	0	1	11724	175	7	3		3	PELO	5	52097317	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	10947801	52097317	128817943	407	407											
ITGA2	3673	broad.mit.edu	37	chr5	52366056	52366056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatatggtagtaaatcaagCacagagttgccccgagcaca	10	9	1	1	rs148414859		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:52366056C>T	uc003joy.2	+	17	2344	c.2201C>T	c.(2200-2202)GCA>GTA	p.A734V	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.A658V|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	734	Extracellular (Potential).				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GTAAATCAAGCACAGAGTTGC	0.408													T	52366056	C	T	52366056	3	4	1	1	0	0	0	0	1	0	0	0	7875	710	25	2	2267	2	ITGA2	5	52366056	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	268739	52366056	128549204	408	408											
PDE4D	5144	broad.mit.edu	37	chr5	58270635	58270635	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagagtcttggagtcactGcagctagtgtcttcttccac	9	11	4	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:58270635G>A	uc003jsa.2	-	15	2458	c.2286C>T	c.(2284-2286)TGC>TGT	p.C762C	PDE4D_uc003jrx.2_Silent_p.C626C|PDE4D_uc003jry.2_Silent_p.C460C|PDE4D_uc003jrz.2_Silent_p.C698C|PDE4D_uc003jsb.2_Silent_p.C701C|PDE4D_uc003jrt.2_Silent_p.C460C|PDE4D_uc003jru.2_Silent_p.C538C|PDE4D_uc003jrv.2_Silent_p.C632C|PDE4D_uc003jrw.2_Silent_p.C640C|PDE4D_uc003jrs.2_Silent_p.C471C	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	phosphodiesterase 4D isoform 1	762					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TGGAGTCACTGCAGCTAGTGT	0.458													A	58270635	G	A	58270635	2	1	1	1	0	0	0	0	0	0	0	1	11642	1311	46	2		2	PDE4D	5	58270635	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	5904579	58270635	122644625	409	409											
DEPDC1B	55789	broad.mit.edu	37	chr5	59943279	59943279	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgcctggtgggagatcAttccattctggaaatttaat	11	6	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:59943279A>G	uc003jsh.2	-	3	469	c.396T>C	c.(394-396)AAT>AAC	p.N132N	DEPDC1B_uc011cqm.1_Silent_p.N132N|DEPDC1B_uc011cqn.1_Silent_p.N105N	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	132					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				GTGGGAGATCATTCCATTCTG	0.453													G	59943279	A	G	59943279	2	3	1	1	0	0	0	0	0	0	0	1	4440	214	8	3		3	DEPDC1B	5	59943279	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1672644	59943279	120971981	410	410											
IPO11	51194	broad.mit.edu	37	chr5	61789842	61789842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtataagccattgcgacGcagggtgatttggctcatcg	13	8	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:61789842G>A	uc003jtc.2	+	16	1671	c.1481G>A	c.(1480-1482)CGC>CAC	p.R494H	IPO11_uc011cqr.1_Missense_Mutation_p.R534H|IPO11_uc003jtb.1_Missense_Mutation_p.R494H	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2	494	HEAT 5.					cytoplasm|nucleus	protein binding			lung(2)|skin(2)	4		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CCATTGCGACGCAGGGTGATT	0.323													A	61789842	G	A	61789842	3	1	1	1	0	0	0	0	1	0	0	0	7793	1087	38	1	1663	1	IPO11	5	61789842	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1846563	61789842	119125418	411	411											
IPO11	51194	broad.mit.edu	37	chr5	61847115	61847115	+	Frame_Shift_Del	DEL	T	T	-													gttctactacaaaacactagTtttttttcttcactacttaa							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:61847114_61847114GT>G	uc011cqr.2	+	25	2661	c.2531_2531GT>G	c.(2530-2532)agtfs	p.S844fs	IPO11_uc003jtc.3_Frame_Shift_Del_p.S804fs|IPO11_uc003jtd.1_Non-coding_Transcript	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	804						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CAAAACACTAGTTTTTTTTCT	0.303													-	61847115	T	-	61847115	7	5	1	1	0	1	0	1	0	0	0	0	7793	1722	60	0	2634	0	IPO11	5	61847115	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	57273	61847115	119068145	412	412											
HTR1A	3350	broad.mit.edu	37	chr5	63256782	63256782	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgctccccgactctccAttcacactcttcttgggctg	6	17	4	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:63256782A>G	uc011cqt.1	-	1	765	c.765T>C	c.(763-765)AAT>AAC	p.N255N		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	255	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCGACTCTCCATTCACACTCT	0.657													G	63256782	A	G	63256782	2	3	1	1	0	0	0	0	0	0	0	1	7436	214	8	3		3	HTR1A	5	63256782	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1409667	63256782	117658478	413	413											
RNF180	285671	broad.mit.edu	37	chr5	63510254	63510254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaatttttcattgggcagCattaatcagaggcttaataa	8	7	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:63510254C>T	uc003jti.2	+	4	1211	c.1101C>T	c.(1099-1101)AGC>AGT	p.S367S	RNF180_uc003jth.3_Silent_p.S367S|RNF180_uc010iws.2_Intron	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN	ring finger protein 180 isoform 1	367	Interaction with ZIC2 (By similarity).|Cytoplasmic (Potential).					integral to membrane|nuclear envelope	zinc ion binding				0		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		CATTGGGCAGCATTAATCAGA	0.488													T	63510254	C	T	63510254	2	4	1	1	0	0	0	0	0	0	0	1	13464	709	25	2		2	RNF180	5	63510254	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	253472	63510254	117405006	414	414											
PPWD1	23398	broad.mit.edu	37	chr5	64881883	64881883	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatgggaggagaaagcataTggggaggagaatttgaagat	17	1	0	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:64881883T>C	uc003jtv.3	+	10	1679	c.1672T>C	c.(1672-1674)TGG>CGG	p.W558R	PPWD1_uc011cqv.1_Missense_Mutation_p.W528R|PPWD1_uc011cqw.1_Missense_Mutation_p.W402R	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat	558	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		AGAAAGCATATGGGGAGGAGA	0.413													C	64881883	T	C	64881883	3	2	1	1	0	0	0	0	1	0	0	0	12414	1464	51	3	1710	3	PPWD1	5	64881883	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1371629	64881883	116033377	415	415											
C5orf44	80006	broad.mit.edu	37	chr5	64931134	64931134	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttttacttcacagtgatgcGgctgactaagcctactttat	7	9	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:64931134G>T	uc003jtz.3	+	2	383	c.53G>T	c.(52-54)CGG>CTG	p.R18L	C5orf44_uc003jua.3_Missense_Mutation_p.R18L|C5orf44_uc003juc.3_Missense_Mutation_p.R18L|C5orf44_uc010iwv.2_Missense_Mutation_p.R18L	NM_024941	NP_079217	A5PLN9	CE044_HUMAN	hypothetical protein LOC80006 isoform 2	18										ovary(1)	1						ACAGTGATGCGGCTGACTAAG	0.358													T	64931134	G	T	64931134	3	4	1	1	0	0	0	0	1	0	0	0	2303	1116	39	5	59	5	C5orf44	5	64931134	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	49251	64931134	115984126	416	416											
SLC30A5	64924	broad.mit.edu	37	chr5	68414387	68414387	+	Frame_Shift_Del	DEL	T	T	-													tttttctaatagtaatagcgTtttttgtgtttatggagtca							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:68414386_68414386GT>G	uc003jvh.3	+	11	1807	c.1500_1500GT>G	c.(1498-1500)gcgfs	p.A500fs	SLC30A5_uc003jvj.3_Non-coding_Transcript|SLC30A5_uc003jvk.3_Frame_Shift_Del_p.A229fs|SLC30A5_uc003jvi.3_Frame_Shift_Del_p.A329fs	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 5 (SLC30A5), transcript variant 1, mRNA.	500					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	Golgi apparatus|apical plasma membrane|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TAGTAATAGCGTTTTTTGTGT	0.323													-	68414387	T	-	68414387	7	5	1	1	0	1	0	1	0	0	0	0	14558	1725	60	0	1635	0	SLC30A5	5	68414387	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	3483253	68414387	112500873	417	417											
POLK	51426	broad.mit.edu	37	chr5	74892828	74892828	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccagccttacttatgtgaAgtgaaaacaggccaagctct	9	11	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:74892828A>G	uc003kdw.2	+	13	2406	c.2310A>G	c.(2308-2310)GAA>GAG	p.E770E	POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Silent_p.E572E|POLK_uc003kec.2_Silent_p.E680E|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Silent_p.E680E	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	770					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		ACTTATGTGAAGTGAAAACAG	0.373								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					G	74892828	A	G	74892828	2	3	1	1	0	0	0	0	0	0	0	1	12204	69	3	3		3	POLK	5	74892828	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	6478441	74892828	106022432	418	418											
AP3B1	8546	broad.mit.edu	37	chr5	77471506	77471506	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatagaaactcttcagatAaggttcaaacatcccctgga	6	10	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:77471506A>G	uc003kfj.2	-	11	1236	c.1111T>C	c.(1111-1113)TAT>CAT	p.Y371H		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	371					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CTCTTCAGATAAGGTTCAAAC	0.318									Hermansky-Pudlak_syndrome				G	77471506	A	G	77471506	3	3	1	1	0	0	0	0	1	0	0	0	744	362	13	3	2241	3	AP3B1	5	77471506	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	2578678	77471506	103443754	419	419											
BHMT2	23743	broad.mit.edu	37	chr5	78375234	78375234	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgagagcaggatcaaatgTcatgcagacttttacctttt	8	8	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:78375234T>C	uc003kft.2	+	3	232	c.209T>C	c.(208-210)GTC>GCC	p.V70A	BHMT2_uc011cth.1_Missense_Mutation_p.V70A	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	betaine-homocysteine methyltransferase 2	70	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GGATCAAATGTCATGCAGACT	0.373													C	78375234	T	C	78375234	3	2	1	1	0	0	0	0	1	0	0	0	1426	1667	58	3	219	3	BHMT2	5	78375234	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	903728	78375234	102540026	420	420											
THBS4	7060	broad.mit.edu	37	chr5	79378294	79378294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatagacaccacaatgcGtggaggccgacttggcgttt	11	12	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:79378294G>A	uc003kgh.2	+	22	3073	c.2750G>A	c.(2749-2751)CGT>CAT	p.R917H	uc003kgi.3_RNA	NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	917	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACCACAATGCGTGGAGGCCGA	0.512													A	79378294	G	A	79378294	3	1	1	1	0	0	0	0	1	0	0	0	15853	1145	40	1	2832	1	THBS4	5	79378294	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1003060	79378294	101536966	421	421											
VCAN	1462	broad.mit.edu	37	chr5	82835480	82835480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatctataccagctgaaCatgtagtcacagattcacca	6	11	3	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:82835480C>T	uc003kii.3	+	8	7014	c.6658C>T	c.(6658-6660)CAT>TAT	p.H2220Y	VCAN_uc003kij.3_Missense_Mutation_p.H1233Y|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.H884Y	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2220	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACCAGCTGAACATGTAGTCAC	0.373													T	82835480	C	T	82835480	3	4	1	1	0	0	0	0	1	0	0	0	17135	478	17	4	6684	4	VCAN	5	82835480	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3457186	82835480	98079780	422	422											
VCAN	1462	broad.mit.edu	37	chr5	82876243	82876243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagccggaggtggcaggagtCgaggcgctgatccctaaaat	16	9	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:82876243C>T	uc003kii.3	+	15	10537	c.10181C>T	c.(10180-10182)TCG>TTG	p.S3394L	VCAN_uc003kij.3_Missense_Mutation_p.S2407L|VCAN_uc010jau.2_Missense_Mutation_p.S1640L|VCAN_uc003kik.3_Missense_Mutation_p.S653L|VCAN_uc003kil.3_Missense_Mutation_p.S2058L	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	3394					cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGGCAGGAGTCGAGGCGCTGA	0.408													T	82876243	C	T	82876243	3	4	1	1	0	0	0	0	1	0	0	0	17135	893	31	1	10235	1	VCAN	5	82876243	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	40763	82876243	98039017	423	423											
NR2F1	7025	broad.mit.edu	37	chr5	92923860	92923860	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttcagcgccgtcgagtgggCccgcaacatccccttcttcc	9	18	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:92923860C>G	uc003kkj.2	+	2	2388	c.701C>G	c.(700-702)GCC>GGC	p.A234G		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	234					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GTCGAGTGGGCCCGCAACATC	0.642													G	92923860	C	G	92923860	3	3	1	1	0	0	0	0	1	0	0	0	10627	739	26	5	707	5	NR2F1	5	92923860	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	10047617	92923860	87991400	424	424											
TTC37	9652	broad.mit.edu	37	chr5	94863727	94863727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagtctacctgatcaagcGtacgaattgcttcctctgaa	7	11	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:94863727G>A	uc003klb.2	-	13	1394	c.1124C>T	c.(1123-1125)ACG>ATG	p.T375M	TTC37_uc010jbf.1_Missense_Mutation_p.T327M	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	375							binding			ovary(3)|pancreas(1)	4						CTGATCAAGCGTACGAATTGC	0.373													A	94863727	G	A	94863727	3	1	1	1	0	0	0	0	1	0	0	0	16702	1145	40	1	3694	1	TTC37	5	94863727	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1939867	94863727	86051533	425	425											
SLCO6A1	133482	broad.mit.edu	37	chr5	101834249	101834249	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgaatgttattgcaacaCtcacagcaggtgctgactaa	9	10	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:101834249C>T	uc003knn.2	-	1	472	c.300G>A	c.(298-300)GAG>GAA	p.E100E	SLCO6A1_uc003kno.2_Silent_p.E100E|SLCO6A1_uc003knp.2_Silent_p.E100E|SLCO6A1_uc003knq.2_Silent_p.E100E	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	100	Cytoplasmic (Potential).|Cys-rich.					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TATTGCAACACTCACAGCAGG	0.517													T	101834249	C	T	101834249	2	4	1	1	0	0	0	0	0	0	0	1	14732	564	20	4		4	SLCO6A1	5	101834249	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	6970522	101834249	79081011	426	426											
TSLP	85480	broad.mit.edu	37	chr5	110407479	110407479	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgtggactggcaatgagaGgcaaaacctggtgcttgagc	14	9	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:110407479G>T	uc003kpb.2	+	1	90	c.-109G>T	c.(-111--107)GAGGC>GATGC		TSLP_uc003kpa.2_Intron|TSLP_uc010jbt.1_5'Flank	NM_033035	NP_149024	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin isoform 1							extracellular space	cytokine activity				0		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		GGCAATGAGAGGCAAAACCTG	0.512													T	110407479	G	T	110407479	1	4	1	1	0	0	0	0	0	0	0	0	16625	1015	35	5		5	TSLP	5	110407479	Translation_Start_Site	SNP	G	TCGA-B7-5816-01A-21D-1600-08	8573230	110407479	70507781	427	427											
CAMK4	814	broad.mit.edu	37	chr5	110819980	110819980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatataaatgctgaagaggCccccaaaatggtgcccaagg	11	9	0	3	rs147516085	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:110819980C>T	uc011cvj.1	+	12	1337	c.1238C>T	c.(1237-1239)GCC>GTC	p.A413V	CAMK4_uc003kpf.2_Missense_Mutation_p.A413V|CAMK4_uc010jbv.2_Missense_Mutation_p.A216V|CAMK4_uc003kpg.2_Missense_Mutation_p.A104V	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	413					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GCTGAAGAGGCCCCCAAAATG	0.552													T	110819980	C	T	110819980	3	4	1	1	0	0	0	0	1	0	0	0	2605	739	26	2	1280	2	CAMK4	5	110819980	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	412501	110819980	70095280	428	428											
DCP2	167227	broad.mit.edu	37	chr5	112349031	112349031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaacagatgctgtatatgaCttgcctagctccagtgaaga	9	8	0	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:112349031C>T	uc003kqh.2	+	11	1311	c.1113C>T	c.(1111-1113)GAC>GAT	p.D371D	DCP2_uc011cwa.1_Silent_p.D160D|DCP2_uc010jcc.2_Silent_p.D242D	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN	DCP2 decapping enzyme	371					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|protein binding|RNA binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		CTGTATATGACTTGCCTAGCT	0.393													T	112349031	C	T	112349031	2	4	1	1	0	0	0	0	0	0	0	1	4300	564	20	4		4	DCP2	5	112349031	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1529051	112349031	68566229	429	429											
MCC	4163	broad.mit.edu	37	chr5	112676242	112676242	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccagctctagatagcttcCtcctacagagttgccaatgt	9	12	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:112676242C>A	uc003kql.3	-	3	1017	c.601G>T	c.(601-603)GGA>TGA	p.G201*	MCC_uc003kqk.3_RNA	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 1	Error:Variant_position_missing_in_P23508_after_alignment					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		AGATAGCTTCCTCCTACAGAG	0.468													A	112676242	C	A	112676242	4	1	1	1	0	0	0	0	0	1	0	0	9373	690	24	5	2587	5	MCC	5	112676242	Nonsense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	327211	112676242	68239018	430	430											
PGGT1B	5229	broad.mit.edu	37	chr5	114577261	114577261	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggattgaacggaatacccAggtatgaagagcctcggaaa	12	7	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:114577261A>G	uc003kqw.3	-	3	323	c.302T>C	c.(301-303)CTG>CCG	p.L101P	PGGT1B_uc003kqx.3_5'UTR|PGGT1B_uc010jch.2_Missense_Mutation_p.L101P	NM_005023	NP_005014	P53609	PGTB1_HUMAN	geranylgeranyltransferase type 1 beta	101					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity				0		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	CGGAATACCCAGGTATGAAGA	0.343													G	114577261	A	G	114577261	3	3	1	1	0	0	0	0	1	0	0	0	11789	188	7	3	859	3	PGGT1B	5	114577261	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1901019	114577261	66337999	431	431											
FEM1C	56929	broad.mit.edu	37	chr5	114860032	114860032	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagggaaacaaaagtctcTagcttttctgggatatgccc	10	8	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:114860032T>C	uc003krb.1	-	3	2389	c.1827A>G	c.(1825-1827)CTA>CTG	p.L609L		NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN	feminization 1 homolog a	609						cytoplasm				breast(2)|ovary(1)	3		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		CAAAAGTCTCTAGCTTTTCTG	0.353													C	114860032	T	C	114860032	2	2	1	1	0	0	0	0	0	0	0	1	5811	1509	53	3		3	FEM1C	5	114860032	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	282771	114860032	66055228	432	432											
AQPEP	206338	broad.mit.edu	37	chr5	115358121	115358121	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattgattaatctaatataTacaatagggagaaccgtaac	6	6	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:115358121T>C	uc003kro.2	+	19	2954	c.2790T>C	c.(2788-2790)TAT>TAC	p.Y930Y	AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	930	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						ATCTAATATATACAATAGGGA	0.284													C	115358121	T	C	115358121	2	2	1	1	0	0	0	0	0	0	0	1	834	1413	49	3		3	AQPEP	5	115358121	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	498089	115358121	65557139	433	433											
TNFAIP8	25816	broad.mit.edu	37	chr5	118728727	118728727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagacagtcatcaagctggCcattctttataggaataatc	7	9	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:118728727C>T	uc003ksh.2	+	3	936	c.248C>T	c.(247-249)GCC>GTC	p.A83V	TNFAIP8_uc003ksf.1_Missense_Mutation_p.P61S|TNFAIP8_uc003ksg.2_Missense_Mutation_p.A73V|TNFAIP8_uc011cwf.1_Missense_Mutation_p.A77V|TNFAIP8_uc003ksi.2_Missense_Mutation_p.A83V	NM_014350	NP_055165	O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	83	Potential.				anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		ATCAAGCTGGCCATTCTTTAT	0.423													T	118728727	C	T	118728727	3	4	1	1	0	0	0	0	1	0	0	0	16273	739	26	2	259	2	TNFAIP8	5	118728727	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3370606	118728727	62186533	434	434											
SNX2	6643	broad.mit.edu	37	chr5	122139221	122139221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtgaaaagaagattcagcGactttcttggtttgcacagc	10	8	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:122139221G>A	uc003kte.2	+	6	605	c.556G>A	c.(556-558)GAC>AAC	p.D186N	SNX2_uc011cwn.1_Missense_Mutation_p.D69N	NM_003100	NP_003091	O60749	SNX2_HUMAN	sorting nexin 2	186	PX.				cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			kidney(1)	1		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		AAGATTCAGCGACTTTCTTGG	0.353													A	122139221	G	A	122139221	3	1	1	1	0	0	0	0	1	0	0	0	14891	1058	37	1	578	1	SNX2	5	122139221	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	3410494	122139221	58776039	435	435											
LMNB1	4001	broad.mit.edu	37	chr5	126156790	126156790	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcgaagaaattgatgttgAtgggaaatttatccgcttga	10	5	0	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:126156790A>G	uc003kud.1	+	7	1717	c.1349A>G	c.(1348-1350)GAT>GGT	p.D450G	LMNB1_uc010jdb.1_RNA|LMNB1_uc011cxb.1_Missense_Mutation_p.D240G	NM_005573	NP_005564	P20700	LMNB1_HUMAN	lamin B1	450	Tail.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			kidney(1)|central_nervous_system(1)	2		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		ATTGATGTTGATGGGAAATTT	0.403													G	126156790	A	G	126156790	3	3	1	1	0	0	0	0	1	0	0	0	8849	333	12	3	1375	3	LMNB1	5	126156790	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	4017569	126156790	54758470	436	436											
PRRC1	133619	broad.mit.edu	37	chr5	126860552	126860552	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttatgacattacaaggggaCatgctgggagagctccccag	12	10	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:126860552C>G	uc003kuk.2	+	3	613	c.433C>G	c.(433-435)CAT>GAT	p.H145D	PRRC1_uc003kuj.3_Missense_Mutation_p.H145D	NM_130809	NP_570721	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	145						Golgi apparatus					0		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		TACAAGGGGACATGCTGGGAG	0.448													G	126860552	C	G	126860552	3	3	1	1	0	0	0	0	1	0	0	0	12604	478	17	5	439	5	PRRC1	5	126860552	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	703762	126860552	54054708	437	437											
SLC12A2	6558	broad.mit.edu	37	chr5	127483327	127483327	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttaaggtaatgagtatggTgtcaggatttacaccactaa	9	5	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:127483327T>C	uc003kus.2	+	11	1951	c.1787T>C	c.(1786-1788)GTG>GCG	p.V596A	SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.V596A	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	596	Helical; (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			ovary(3)	3		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATGAGTATGGTGTCAGGATTT	0.338													C	127483327	T	C	127483327	3	2	1	1	0	0	0	0	1	0	0	0	14383	1696	59	3	1829	3	SLC12A2	5	127483327	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	622775	127483327	53431933	438	438											
P4HA2	8974	broad.mit.edu	37	chr5	131543466	131543466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgacatcgtagtacctgaCgatgtgcgggctgtcccact	11	12	0	2	rs148040234		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:131543466C>T	uc003kwh.2	-	8	1579	c.1015G>A	c.(1015-1017)GTC>ATC	p.V339I	P4HA2_uc003kwg.2_Missense_Mutation_p.V339I|P4HA2_uc003kwi.2_Missense_Mutation_p.V339I|P4HA2_uc003kwk.2_Missense_Mutation_p.V339I|P4HA2_uc003kwl.2_Missense_Mutation_p.V339I|P4HA2_uc003kwj.2_Missense_Mutation_p.V339I	NM_004199	NP_004190	O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha II subunit isoform 1	339						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding				0		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TAGTACCTGACGATGTGCGGG	0.527													T	131543466	C	T	131543466	3	4	1	1	0	0	0	0	1	0	0	0	11357	536	19	1	688	1	P4HA2	5	131543466	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	4060139	131543466	49371794	439	439											
C5orf15	56951	broad.mit.edu	37	chr5	133292616	133292616	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaacattctgatctaggcgAtggtattccactgttttgga	9	7	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:133292616A>G	uc003kyo.2	-	3	863	c.732T>C	c.(730-732)CAT>CAC	p.H244H		NM_020199	NP_064584	Q8NC54	KCT2_HUMAN	keratinocytes associated transmembrane protein 2	244	Cytoplasmic (Potential).					integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			GATCTAGGCGATGGTATTCCA	0.343													G	133292616	A	G	133292616	2	3	1	1	0	0	0	0	0	0	0	1	2283	330	12	3		3	C5orf15	5	133292616	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1749150	133292616	47622644	440	440											
PHF15	23338	broad.mit.edu	37	chr5	133914618	133914618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgtccagccctgcagccGgggactgtcccatcctagcc	11	18	0	0	rs150023113		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:133914618G>A	uc003kzo.1	+	11	2163	c.1984G>A	c.(1984-1986)GGG>AGG	p.G662R	PHF15_uc011cxt.1_Missense_Mutation_p.G706R|PHF15_uc003kzk.2_Missense_Mutation_p.G722R|PHF15_uc003kzm.2_Missense_Mutation_p.G663R|PHF15_uc003kzn.2_3'UTR	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	662	Pro-rich.				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCTGCAGCCGGGGACTGTCC	0.657													A	133914618	G	A	133914618	3	1	1	1	0	0	0	0	1	0	0	0	11826	1116	39	1	2022	1	PHF15	5	133914618	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	622002	133914618	47000642	441	441											
DDX46	9879	broad.mit.edu	37	chr5	134109426	134109426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaagaagaaatgagaaagcGaaaagaaagagtagaaaaat	12	1	0	6			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:134109426G>A	uc003kzw.2	+	5	656	c.488G>A	c.(487-489)CGA>CAA	p.R163Q	DDX46_uc003kzv.1_RNA	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	163	Potential.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGAGAAAGCGAAAAGAAAGA	0.353													A	134109426	G	A	134109426	3	1	1	1	0	0	0	0	1	0	0	0	4364	1058	37	1	506	1	DDX46	5	134109426	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	194808	134109426	46805834	442	442											
TRPC7	57113	broad.mit.edu	37	chr5	135583370	135583370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagcacgacggctatcgCgtagagcccttccgatatga	11	13	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:135583370C>T	uc003lbn.1	-	6	1633	c.1630G>A	c.(1630-1632)GCG>ACG	p.A544T	TRPC7_uc010jef.1_Missense_Mutation_p.A481T|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.A475T|TRPC7_uc010jei.1_Missense_Mutation_p.A420T|TRPC7_uc010jej.1_Missense_Mutation_p.A96T	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	545	Helical; (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACGGCTATCGCGTAGAGCCCT	0.522													T	135583370	C	T	135583370	3	4	1	1	0	0	0	0	1	0	0	0	16581	768	27	1	979	1	TRPC7	5	135583370	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1473944	135583370	45331890	443	443											
SPOCK1	6695	broad.mit.edu	37	chr5	136602745	136602745	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtttctgaaataatcatcCtatataaggaaaaaatagaa	5	5	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:136602745C>A	uc003lbo.2	-	2	378	c.187_splice	c.e2-1	p.D63_splice	SPOCK1_uc003lbp.2_Splice_Site_p.D63_splice	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains						cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATAATCATCCTATATAAGGA	0.368													A	136602745	C	A	136602745	5	1	1	1	0	0	0	0	0	0	1	0	15078	695	24	5	1169	5	SPOCK1	5	136602745	Splice_Site	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1019375	136602745	44312515	444	444											
CTNNA1	1495	broad.mit.edu	37	chr5	138253547	138253547	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtgttctcacagatgctgtCgatgacattacttccattga	8	10	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:138253547C>T	uc003ldh.2	+	11	1601	c.1506C>T	c.(1504-1506)GTC>GTT	p.V502V	CTNNA1_uc011cyx.1_Silent_p.V399V|CTNNA1_uc011cyy.1_Silent_p.V379V|CTNNA1_uc003ldi.2_Silent_p.V200V|CTNNA1_uc003ldj.2_Silent_p.V502V|CTNNA1_uc003ldl.2_Silent_p.V132V	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	502					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAGATGCTGTCGATGACATTA	0.408													T	138253547	C	T	138253547	2	4	1	1	0	0	0	0	0	0	0	1	4012	871	31	1		1	CTNNA1	5	138253547	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1650802	138253547	42661713	445	445											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139909134	139909134	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaaataagtctttgccAcctacatttggcccagccac	6	15	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:139909134A>G	uc003lfs.1	+	29	6727	c.6603A>G	c.(6601-6603)CCA>CCG	p.P2201P	ANKHD1_uc003lfr.2_Silent_p.P2201P|ANKHD1-EIF4EBP3_uc011czh.1_Silent_p.P940P|ANKHD1_uc003lfw.2_Silent_p.P839P|ANKHD1_uc010jfl.2_Silent_p.P636P|ANKHD1-EIF4EBP3_uc003lfx.1_Silent_p.P338P	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2201						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCTTTGCCACCTACATTTG	0.493													G	139909134	A	G	139909134	2	3	1	1	0	0	0	0	0	0	0	1	629	146	6	3		3	ANKHD1-EIF4EBP3	5	139909134	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1655587	139909134	41006126	446	446											
HARS2	23438	broad.mit.edu	37	chr5	140076918	140076918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcatgtttgaccccaaggGccacaaggtgccatgtgtgg	15	10	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140076918G>A	uc003lgx.2	+	10	1340	c.1124G>A	c.(1123-1125)GGC>GAC	p.G375D	HARS2_uc011czr.1_Missense_Mutation_p.G350D|HARS2_uc011czs.1_Missense_Mutation_p.G231D|HARS2_uc011czt.1_Missense_Mutation_p.G203D|HARS2_uc011czu.1_Missense_Mutation_p.G201D	NM_012208	NP_036340	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2 precursor	375					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCCCAAGGGCCACAAGGTG	0.587													A	140076918	G	A	140076918	3	1	1	1	0	0	0	0	1	0	0	0	6960	1203	42	2	1162	2	HARS2	5	140076918	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	167784	140076918	40838342	447	447											
PCDHA1	56147	broad.mit.edu	37	chr5	140166090	140166090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcgtccaaaacacacaGggaccttctggaggtaaatc	12	10	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140166090G>A	uc003lhb.2	+	1	215	c.215G>A	c.(214-216)AGG>AAG	p.R72K	PCDHA1_uc003lha.2_Missense_Mutation_p.R72K|PCDHA1_uc003lgz.2_Missense_Mutation_p.R72K	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	72	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAACACACAGGGACCTTCTG	0.597													A	140166090	G	A	140166090	3	1	1	1	0	0	0	0	1	0	0	0	11519	1000	35	4	217	4	PCDHA1	5	140166090	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	89172	140166090	40749170	448	448											
PCDHA2	56146	broad.mit.edu	37	chr5	140174888	140174888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgatcgtggacaggccGctgcaggttttccatgtgga	16	8	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140174888G>A	uc003lhd.2	+	1	445	c.339G>A	c.(337-339)CCG>CCA	p.P113P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.P113P|PCDHA2_uc011czy.1_Silent_p.P113P	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	113	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACAGGCCGCTGCAGGTTT	0.527													A	140174888	G	A	140174888	2	1	1	1	0	0	0	0	0	0	0	1	11524	1074	38	1		1	PCDHA2	5	140174888	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	8798	140174888	40740372	449	449											
PCDHA8	56140	broad.mit.edu	37	chr5	140222556	140222556	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctgggcagcaacgtgacGctgcaggtgttcgtgctgga	15	11	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140222556G>A	uc003lhs.2	+	1	1650	c.1650G>A	c.(1648-1650)ACG>ACA	p.T550T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.T550T	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	550	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAACGTGACGCTGCAGGTGT	0.692													A	140222556	G	A	140222556	2	1	1	1	0	0	0	0	0	0	0	1	11530	1074	38	1		1	PCDHA8	5	140222556	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	47668	140222556	40692704	450	450											
PCDHA11	56138	broad.mit.edu	37	chr5	140250228	140250228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcggtgcacgcggagagcGgcaaggtgtacgcgctgcag	18	10	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140250228G>A	uc003lia.2	+	1	2398	c.1540G>A	c.(1540-1542)GGC>AGC	p.G514S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.G514S	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	514	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGAGAGCGGCAAGGTGTA	0.697													A	140250228	G	A	140250228	3	1	1	1	0	0	0	0	1	0	0	0	11521	1116	39	1	1542	1	PCDHA11	5	140250228	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	27672	140250228	40665032	451	451											
PCDHA13	56136	broad.mit.edu	37	chr5	140263678	140263678	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctacaatgcgtggctttcgTatgaattgcagctggcggcg	14	9	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140263678T>C	uc003lif.2	+	1	1825	c.1825T>C	c.(1825-1827)TAT>CAT	p.Y609H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.Y609H|PCDHA13_uc003lid.2_Missense_Mutation_p.Y609H	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	609	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCTTTCGTATGAATTGCA	0.682													C	140263678	T	C	140263678	3	2	1	1	0	0	0	0	1	0	0	0	11523	1638	57	3	1827	3	PCDHA13	5	140263678	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	13450	140263678	40651582	452	452											
PCDHAC1	56135	broad.mit.edu	37	chr5	140307318	140307318	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcacgcaagcagagctgCgacaccgctttcacgtgcac	10	15	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140307318C>T	uc003lih.2	+	1	1017	c.841C>T	c.(841-843)CGA>TGA	p.R281*	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Nonsense_Mutation_p.R281*	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	281	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGAGCTGCGACACCGCTT	0.542													T	140307318	C	T	140307318	4	4	1	1	0	0	0	0	0	1	0	0	11532	760	27	1	843	1	PCDHAC1	5	140307318	Nonsense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	43640	140307318	40607942	453	453											
PCDHB2	56133	broad.mit.edu	37	chr5	140474700	140474700	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctgtgtcctacctttccAggtgttactagaaaatccct	7	13	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140474700A>C	uc003lil.2	+	1	464	c.326A>C	c.(325-327)CAG>CCG	p.Q109P	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	109	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACCTTTCCAGGTGTTACTA	0.473													C	140474700	A	C	140474700	3	2	1	1	0	0	0	0	1	0	0	0	11542	188	7	5	328	5	PCDHB2	5	140474700	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	167382	140474700	40440560	454	454											
PCDHB3	56132	broad.mit.edu	37	chr5	140481206	140481206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcgaggccaaggatggcGgaggcctatccggaaagtct	14	10	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140481206G>A	uc003lio.2	+	1	973	c.973G>A	c.(973-975)GGA>AGA	p.G325R	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	325	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAGGATGGCGGAGGCCTATC	0.438													A	140481206	G	A	140481206	3	1	1	1	0	0	0	0	1	0	0	0	11543	1117	39	1	975	1	PCDHB3	5	140481206	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	6506	140481206	40434054	455	455											
PCDHB3	56132	broad.mit.edu	37	chr5	140482261	140482261	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgcctctcccggaggcGgcaccggcccaggcccaggc	13	19	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140482261G>A	uc003lio.2	+	1	2028	c.2028G>A	c.(2026-2028)GCG>GCA	p.A676A	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	676	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCGGAGGCGGCACCGGCCC	0.667													A	140482261	G	A	140482261	2	1	1	1	0	0	0	0	0	0	0	1	11543	1103	39	1		1	PCDHB3	5	140482261	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1055	140482261	40432999	456	456											
PCDHB5	26167	broad.mit.edu	37	chr5	140516493	140516493	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctactcgctgctgccgcccCagaacccacacctgcgcctc	7	22	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140516493C>A	uc003liq.2	+	1	1694	c.1477C>A	c.(1477-1479)CAG>AAG	p.Q493K		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	493	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGCCGCCCCAGAACCCACA	0.657													A	140516493	C	A	140516493	3	1	1	1	0	0	0	0	1	0	0	0	11545	595	21	5	1479	5	PCDHB5	5	140516493	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	34232	140516493	40398767	457	457											
PCDHB6	56130	broad.mit.edu	37	chr5	140531173	140531173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctccgacgtcaatgacaaCgtccccgccttcacccaaac	6	18	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140531173C>T	uc003lir.2	+	1	1335	c.1335C>T	c.(1333-1335)AAC>AAT	p.N445N	PCDHB6_uc011dah.1_Silent_p.N309N	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	445	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATGACAACGTCCCCGCCT	0.577													T	140531173	C	T	140531173	2	4	1	1	0	0	0	0	0	0	0	1	11546	535	19	1		1	PCDHB6	5	140531173	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	14680	140531173	40384087	458	458											
PCDHB7	56129	broad.mit.edu	37	chr5	140553418	140553418	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctggaaaatgcactgtagtGgttgatgtaacagatataaa	10	4	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140553418G>T	uc003lit.2	+	1	1176	c.1002G>T	c.(1000-1002)GTG>GTT	p.V334V		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	334	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACTGTAGTGGTTGATGTAA	0.448													T	140553418	G	T	140553418	2	4	1	1	0	0	0	0	0	0	0	1	11547	1335	47	5		5	PCDHB7	5	140553418	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	22245	140553418	40361842	459	459											
PCDHB8	56128	broad.mit.edu	37	chr5	140559148	140559148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctccatcaacacagacaaCggccacctgttcgccctcag	7	17	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140559148C>T	uc011dai.1	+	1	1719	c.1533C>T	c.(1531-1533)AAC>AAT	p.N511N	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	511	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACAGACAACGGCCACCTGT	0.677													T	140559148	C	T	140559148	2	4	1	1	0	0	0	0	0	0	0	1	11548	535	19	1		1	PCDHB8	5	140559148	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	5730	140559148	40356112	460	460											
PCDHB10	56126	broad.mit.edu	37	chr5	140573645	140573645	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcctccctggtctccatcaAcgcggacaacggccacctgt	9	18	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140573645A>G	uc003lix.2	+	1	1694	c.1520A>G	c.(1519-1521)AAC>AGC	p.N507S		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	507	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCTCCATCAACGCGGACAAC	0.697													G	140573645	A	G	140573645	3	3	1	1	0	0	0	0	1	0	0	0	11535	43	2	3	1522	3	PCDHB10	5	140573645	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	14497	140573645	40341615	461	461											
PCDHB12	56124	broad.mit.edu	37	chr5	140588755	140588755	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgagagaaatgctagacagGgaggagctctgtggctccaa	14	8	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140588755G>C	uc003liz.2	+	1	465	c.276G>C	c.(274-276)AGG>AGC	p.R92S	PCDHB12_uc011dak.1_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	92	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTAGACAGGGAGGAGCTCT	0.483													C	140588755	G	C	140588755	3	2	1	1	0	0	0	0	1	0	0	0	11537	1223	43	5	278	5	PCDHB12	5	140588755	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	15110	140588755	40326505	462	462											
PCDHB13	56123	broad.mit.edu	37	chr5	140595303	140595303	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgtgggcgcttcagaccaCggctccccggcgctgagcag	15	16	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140595303C>T	uc003lja.1	+	1	1795	c.1608C>T	c.(1606-1608)CAC>CAT	p.H536H		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	536	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCAGACCACGGCTCCCCGG	0.677													T	140595303	C	T	140595303	2	4	1	1	0	0	0	0	0	0	0	1	11538	535	19	1		1	PCDHB13	5	140595303	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	6548	140595303	40319957	463	463											
PCDHB13	56123	broad.mit.edu	37	chr5	140595729	140595729	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctctcccggaggcggccccGacccaggcccaggccgactt	12	20	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140595729G>A	uc003lja.1	+	1	2221	c.2034G>A	c.(2032-2034)CCG>CCA	p.P678P		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	678	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCGGCCCCGACCCAGGCCC	0.687													A	140595729	G	A	140595729	2	1	1	1	0	0	0	0	0	0	0	1	11538	1045	37	1		1	PCDHB13	5	140595729	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	426	140595729	40319531	464	464											
SLC25A2	83884	broad.mit.edu	37	chr5	140682918	140682918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagtagagtactcgagagtCcatggtagaagcccaagggg	15	7	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140682918C>T	uc003ljf.2	-	1	695	c.515G>A	c.(514-516)GGA>GAA	p.G172E		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 member 2	172	Helical; Name=4; (Potential).|Solcar 2.				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			ovary(1)	1		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	ACTCGAGAGTCCATGGTAGAA	0.433													T	140682918	C	T	140682918	3	4	1	1	0	0	0	0	1	0	0	0	14482	855	30	4	394	4	SLC25A2	5	140682918	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	87189	140682918	40232342	465	465											
PCDHGA3	56112	broad.mit.edu	37	chr5	140724035	140724035	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaataaaaattggtgaactAacggttcctggaacccgatt	9	7	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140724035A>G	uc003ljm.1	+	1	435	c.435A>G	c.(433-435)CTA>CTG	p.L145L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Silent_p.L145L	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	145	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGTGAACTAACGGTTCCTG	0.343													G	140724035	A	G	140724035	2	3	1	1	0	0	0	0	0	0	0	1	11555	349	13	3		3	PCDHGA3	5	140724035	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	41117	140724035	40191225	466	466											
PCDHGA4	56111	broad.mit.edu	37	chr5	140737042	140737042	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctattcccacgaggtctccCtcaccgcggactcgcggaag	10	17	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140737042C>A	uc003ljq.1	+	1	2275	c.2275C>A	c.(2275-2277)CTC>ATC	p.L759I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGB2_uc003ljs.1_5'Flank|PCDHGA4_uc003ljp.1_Missense_Mutation_p.L759I|PCDHGB2_uc011dar.1_5'Flank	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	759	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGGTCTCCCTCACCGCGGA	0.602													A	140737042	C	A	140737042	3	1	1	1	0	0	0	0	1	0	0	0	11556	681	24	5	2277	5	PCDHGA4	5	140737042	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	13007	140737042	40178218	467	467											
PCDHGA5	56110	broad.mit.edu	37	chr5	140744549	140744549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcacagctttagatggcGgagacccggtactctccggc	11	14	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140744549G>A	uc003lju.1	+	1	652	c.652G>A	c.(652-654)GGA>AGA	p.G218R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.G218R	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	218	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTAGATGGCGGAGACCCGGT	0.577													A	140744549	G	A	140744549	3	1	1	1	0	0	0	0	1	0	0	0	11557	1117	39	1	654	1	PCDHGA5	5	140744549	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	7507	140744549	40170711	468	468											
PCDHGA5	56110	broad.mit.edu	37	chr5	140744934	140744934	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaatgacaatgcccccgAagtgatcctcacctctctga	8	14	2	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140744934A>G	uc003lju.1	+	1	1037	c.1037A>G	c.(1036-1038)GAA>GGA	p.E346G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.E346G	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	346	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGCCCCCGAAGTGATCCTC	0.507													G	140744934	A	G	140744934	3	3	1	1	0	0	0	0	1	0	0	0	11557	246	9	3	1039	3	PCDHGA5	5	140744934	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	385	140744934	40170326	469	469											
PCDHGA7	56108	broad.mit.edu	37	chr5	140762728	140762728	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggcagcttggtcactgcgGgcaggatagaccgggaagag	18	9	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140762728G>T	uc003lka.1	+	1	262	c.262G>T	c.(262-264)GGC>TGC	p.G88C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.G88C	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	88	Cadherin 1.|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)			GGTCACTGCGGGCAGGATAGA	0.572													T	140762728	G	T	140762728	3	4	1	1	0	0	0	0	1	0	0	0	11559	1232	43	5	264	5	PCDHGA7	5	140762728	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	17794	140762728	40152532	470	470											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773440	140773440	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatcattacgtctttgtttAgcccagtgttagaaaattct	7	7	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140773440A>G	uc003lkd.1	+	1	1958	c.1060A>G	c.(1060-1062)AGC>GGC	p.S354G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.S354G	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	354	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)			GTCTTTGTTTAGCCCAGTGTT	0.453													G	140773440	A	G	140773440	3	3	1	1	0	0	0	0	1	0	0	0	11560	420	15	3	1062	3	PCDHGA8	5	140773440	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	10712	140773440	40141820	471	471											
PCDHGC3	5098	broad.mit.edu	37	chr5	140856480	140856480	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcacgcgcgtggtacaagTccttgcaacggatctggatg	14	11	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140856480T>C	uc003lkv.1	+	1	912	c.797T>C	c.(796-798)GTC>GCC	p.V266A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.V266A|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	266	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTACAAGTCCTTGCAACG	0.592													C	140856480	T	C	140856480	3	2	1	1	0	0	0	0	1	0	0	0	11569	1667	58	3	799	3	PCDHGC3	5	140856480	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	83040	140856480	40058780	472	472											
HDAC3	8841	broad.mit.edu	37	chr5	141014386	141014386	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctccctcaccagtcatcGcctacgttgaaggcattaag	8	14	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:141014386G>A	uc003llf.2	-	3	339	c.273C>T	c.(271-273)GGC>GGT	p.G91G	HDAC3_uc003lle.1_Silent_p.G34G|HDAC3_uc010jgd.1_Intron|HDAC3_uc010jge.1_Intron|RELL2_uc003lli.2_5'Flank|RELL2_uc003llh.2_5'Flank|RELL2_uc003llg.2_5'Flank|RELL2_uc010jgf.2_5'Flank	NM_003883	NP_003874	O15379	HDAC3_HUMAN	histone deacetylase 3	91	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	ACCAGTCATCGCCTACGTTGA	0.517													A	141014386	G	A	141014386	2	1	1	1	0	0	0	0	0	0	0	1	7008	1074	38	1		1	HDAC3	5	141014386	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	157906	141014386	39900874	473	473											
FCHSD1	89848	broad.mit.edu	37	chr5	141026256	141026256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggccactcttgccagCcacgccttctgctccccact	6	21	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:141026256C>T	uc003llk.2	-	11	1009	c.958G>A	c.(958-960)GCT>ACT	p.A320T	FCHSD1_uc010jgg.2_5'UTR|FCHSD1_uc003llj.2_RNA	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	320									FCHSD1/BRAF(2)	skin(2)|ovary(1)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTTGCCAGCCACGCCTTCT	0.612													T	141026256	C	T	141026256	3	4	1	1	0	0	0	0	1	0	0	0	5789	739	26	2	1154	2	FCHSD1	5	141026256	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	11870	141026256	39889004	474	474											
PCDH1	5097	broad.mit.edu	37	chr5	141248141	141248141	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggggcctctcacctggatgAccgagtggcctatggggcta	16	11	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:141248141A>T	uc003llq.2	-	2	1013	c.896T>A	c.(895-897)GTC>GAC	p.V299D	PCDH1_uc003llp.2_Missense_Mutation_p.V299D|PCDH1_uc011dbf.1_Missense_Mutation_p.V277D	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	299	Extracellular (Potential).|Cadherin 3.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CACCTGGATGACCGAGTGGCC	0.572													T	141248141	A	T	141248141	3	4	1	1	0	0	0	0	1	0	0	0	11506	275	10	5	2917	5	PCDH1	5	141248141	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	221885	141248141	39667119	475	475											
KIAA0141	9812	broad.mit.edu	37	chr5	141314083	141314083	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagctttcctcggggtgcttTtcaccaaggagccctacctg	10	13	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:141314083T>G	uc003lls.2	+	10	1203	c.1081T>G	c.(1081-1083)TTC>GTC	p.F361V	KIAA0141_uc003llt.2_Missense_Mutation_p.F361V|KIAA0141_uc003llu.1_RNA	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	hypothetical protein LOC9812 precursor	361	TPR 5.				apoptosis|regulation of caspase activity	mitochondrion	protein binding			skin(1)	1		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGGTGCTTTTCACCAAGGA	0.527													G	141314083	T	G	141314083	3	3	1	1	0	0	0	0	1	0	0	0	8156	1841	64	5	1119	5	KIAA0141	5	141314083	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	65942	141314083	39601177	476	476											
NDFIP1	80762	broad.mit.edu	37	chr5	141515313	141515313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggatgaggattttgtgggtCgggatgattttgatgatgct	16	2	0	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:141515313C>T	uc003lmi.3	+	4	517	c.301C>T	c.(301-303)CGG>TGG	p.R101W	NDFIP1_uc003lmj.1_Intron	NM_030571	NP_085048	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	101	Cytoplasmic (Potential).				cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity				0		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGTGGGTCGGGATGATTT	0.363													T	141515313	C	T	141515313	3	4	1	1	0	0	0	0	1	0	0	0	10245	875	31	1	315	1	NDFIP1	5	141515313	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	201230	141515313	39399947	477	477											
SH3RF2	153769	broad.mit.edu	37	chr5	145317822	145317822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaccccagacgtctgcagGccagtcctttccggctagtg	10	16	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:145317822G>A	uc003lnt.2	+	2	569	c.331G>A	c.(331-333)GCC>ACC	p.A111T	SH3RF2_uc011dbl.1_Missense_Mutation_p.A111T	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	111							ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGTCTGCAGGCCAGTCCTTT	0.547													A	145317822	G	A	145317822	3	1	1	1	0	0	0	0	1	0	0	0	14259	1203	42	2	333	2	SH3RF2	5	145317822	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	3802509	145317822	35597438	478	478											
ADRB2	154	broad.mit.edu	37	chr5	148206413	148206413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggggcaacccgggaacGgcagcgccttcttgctggca	14	14	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:148206413G>A	uc003lpr.1	+	1	258	c.19G>A	c.(19-21)GGC>AGC	p.G7S	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	7	Extracellular.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	ACCCGGGAACGGCAGCGCCTT	0.711													A	148206413	G	A	148206413	3	1	1	1	0	0	0	0	1	0	0	0	341	1116	39	1	21	1	ADRB2	5	148206413	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2888591	148206413	32708847	479	479											
TIGD6	81789	broad.mit.edu	37	chr5	149375542	149375542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgatctctaaatctgttcaGccagcccacacttgcttgaa	7	13	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:149375542G>A	uc003lri.2	-	2	1132	c.370C>T	c.(370-372)CTG>TTG	p.L124L	TIGD6_uc003lrj.2_Silent_p.L124L	NM_030953	NP_112215	Q17RP2	TIGD6_HUMAN	hypothetical protein LOC81789	124	HTH CENPB-type.|H-T-H motif (By similarity).				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AATCTGTTCAGCCAGCCCACA	0.403													A	149375542	G	A	149375542	2	1	1	1	0	0	0	0	0	0	0	1	15897	962	34	2		2	TIGD6	5	149375542	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1169129	149375542	31539718	480	480											
ARSI	340075	broad.mit.edu	37	chr5	149676950	149676950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcacccccattaaagtcagGatgagcccgggggttctcag	12	12	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:149676950G>A	uc003lrv.2	-	2	2126	c.1537C>T	c.(1537-1539)CCT>TCT	p.P513S		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	513						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTAAAGTCAGGATGAGCCCGG	0.637													A	149676950	G	A	149676950	3	1	1	1	0	0	0	0	1	0	0	0	994	1174	41	4	176	4	ARSI	5	149676950	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	301408	149676950	31238310	481	481											
CCDC69	26112	broad.mit.edu	37	chr5	150584990	150584990	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgaggggacctaattcaTggggctctggtctgggtggc	16	8	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:150584990T>C	uc003ltq.2	-	2	218	c.95A>G	c.(94-96)CAT>CGT	p.H32R	CCDC69_uc010jhu.2_Intron|CCDC69_uc011dcq.1_RNA	NM_015621	NP_056436	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	32										ovary(2)	2		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTAATTCATGGGGCTCTGG	0.527													C	150584990	T	C	150584990	3	2	1	1	0	0	0	0	1	0	0	0	2841	1464	51	3	827	3	CCDC69	5	150584990	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	908040	150584990	30330270	482	482											
FAT2	2196	broad.mit.edu	37	chr5	150917444	150917444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagtgtccaagtctgtggCagaaaccttcaaaatgaagt	9	8	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:150917444C>T	uc003lue.3	-	11	9116	c.9103G>A	c.(9103-9105)GCC>ACC	p.A3035T	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3035	Extracellular (Potential).|Cadherin 27.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGTCTGTGGCAGAAACCTTC	0.468													T	150917444	C	T	150917444	3	4	1	1	0	0	0	0	1	0	0	0	5690	710	25	2	3998	2	FAT2	5	150917444	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	332454	150917444	29997816	483	483											
KIF4B	285643	broad.mit.edu	37	chr5	154393781	154393781	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattcctagggtaatacaacTgctcttcaaagaaattgata	6	7	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:154393781T>G	uc010jih.1	+	1	522	c.362T>G	c.(361-363)CTG>CGG	p.L121R		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	121	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTAATACAACTGCTCTTCAAA	0.393													G	154393781	T	G	154393781	3	3	1	1	0	0	0	0	1	0	0	0	8304	1580	55	5	364	5	KIF4B	5	154393781	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	3476337	154393781	26521479	484	484											
LSM11	134353	broad.mit.edu	37	chr5	157181069	157181069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctaggcaaagcatatgaaCgggattcttcactgactctc	8	11	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:157181069C>T	uc003lxe.1	+	3	650	c.646C>T	c.(646-648)CGG>TGG	p.R216W	LSM11_uc003lxf.1_5'Flank	NM_173491	NP_775762	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	216					histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGCATATGAACGGGATTCTTC	0.463													T	157181069	C	T	157181069	3	4	1	1	0	0	0	0	1	0	0	0	9052	527	19	1	656	1	LSM11	5	157181069	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2787288	157181069	23734191	485	485											
TTC1	7265	broad.mit.edu	37	chr5	159463806	159463806	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagagctgcagcaaggatgaAacaggtatgtatctgtgacc	12	7	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:159463806A>C	uc003lxu.2	+	4	550	c.500A>C	c.(499-501)AAA>ACA	p.K167T		NM_003314	NP_003305	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	167	TPR 2.				protein folding		unfolded protein binding			skin(1)	1	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		GCAAGGATGAAACAGGTATGT	0.418													C	159463806	A	C	159463806	3	2	1	1	0	0	0	0	1	0	0	0	16675	14	1	5	510	5	TTC1	5	159463806	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	2282737	159463806	21451454	486	486											
CPEB4	80315	broad.mit.edu	37	chr5	173317434	173317434	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggcctctctcacagcaccAcccacatcaccctcatttcc	4	21	4	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:173317434A>G	uc003mcs.3	+	1	2104	c.698A>G	c.(697-699)CAC>CGC	p.H233R	CPEB4_uc010jju.1_Missense_Mutation_p.H233R|CPEB4_uc010jjv.2_Missense_Mutation_p.H233R|CPEB4_uc011dfg.1_Missense_Mutation_p.H233R|CPEB4_uc003mct.3_5'Flank|CPEB4_uc003mcu.3_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	233	His-rich.						nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCACAGCACCACCCACATCAC	0.537													G	173317434	A	G	173317434	3	3	1	1	0	0	0	0	1	0	0	0	3803	159	6	3	700	3	CPEB4	5	173317434	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	13853628	173317434	7597826	487	487											
CDHR2	54825	broad.mit.edu	37	chr5	176012966	176012966	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctcctaggaagcctcctcAttaccattgaggacgtgaat	9	11	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:176012966A>G	uc003mem.1	+	20	2812	c.2746A>G	c.(2746-2748)ATT>GTT	p.I916V	CDHR2_uc003men.1_Missense_Mutation_p.I916V	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	916	Extracellular (Potential).|Cadherin 8.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						AAGCCTCCTCATTACCATTGA	0.403													G	176012966	A	G	176012966	3	3	1	1	0	0	0	0	1	0	0	0	3119	217	8	3	2820	3	CDHR2	5	176012966	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	2695532	176012966	4902294	488	488											
ZNF346	23567	broad.mit.edu	37	chr5	176477895	176477895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagctcaaactaatggcaCgctatgggcggctggcggac	13	12	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:176477895C>T	uc003mfi.2	+	5	704	c.661C>T	c.(661-663)CGC>TGC	p.R221C	ZNF346_uc011dfr.1_Missense_Mutation_p.R189C|ZNF346_uc011dfs.1_Missense_Mutation_p.R123C|ZNF346_uc003mfj.2_Intron|ZNF346_uc003mfk.1_Missense_Mutation_p.R246C|ZNF346_uc011dft.1_Intron	NM_012279	NP_036411	Q9UL40	ZN346_HUMAN	zinc finger protein 346	221						cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding				0	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTAATGGCACGCTATGGGCG	0.567													T	176477895	C	T	176477895	3	4	1	1	0	0	0	0	1	0	0	0	17857	536	19	1	679	1	ZNF346	5	176477895	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	464929	176477895	4437365	489	489											
ADAMTS2	9509	broad.mit.edu	37	chr5	178555036	178555036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagagtcctcttccaggacGttgttgtcgtcgacattcag	10	11	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:178555036G>A	uc003mjw.2	-	17	2541	c.2541C>T	c.(2539-2541)AAC>AAT	p.N847N		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	847	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTTCCAGGACGTTGTTGTCGT	0.587													A	178555036	G	A	178555036	2	1	1	1	0	0	0	0	0	0	0	1	265	1136	40	1		1	ADAMTS2	5	178555036	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2077141	178555036	2360224	490	490											
CNOT6	57472	broad.mit.edu	37	chr5	179994114	179994114	+	Frame_Shift_Del	DEL	T	T	-													gaaacggaacagtattacagTttttttctggtagagctgaa							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:179994113_179994113GT>G	uc003mlx.3	+	7	1092	c.743_743GT>G	c.(742-744)agtfs	p.S248fs	CNOT6_uc010jld.3_Frame_Shift_Del_p.S248fs|CNOT6_uc010jle.3_Frame_Shift_Del_p.S243fs	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6 (CNOT6), mRNA.	248					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|exonuclease activity|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		CAGTATTACAGTTTTTTTCTG	0.348													-	179994114	T	-	179994114	7	5	1	1	0	1	0	1	0	0	0	0	3622	1722	60	0	770	0	CNOT6	5	179994114	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	1439078	179994114	921146	491	491											
TUBB2B	347733	broad.mit.edu	37	chr6	3224988	3224988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtctcgcgggggcatctaCgcctcgtcctcgccctcctc	10	20	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:3224988C>T	uc003mvg.2	-	4	1526	c.1335G>A	c.(1333-1335)GCG>GCA	p.A445A	TUBB2B_uc010jnj.2_Silent_p.A408A|TUBB2B_uc010jnk.2_Silent_p.A373A|TUBB2B_uc003mvh.2_Silent_p.A418A|uc011dhu.1_RNA	NM_178012	NP_821080	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B	445					'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			large_intestine(1)	1	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GGGGCATCTACGCCTCGTCCT	0.627													T	3224988	C	T	3224988	2	4	1	1	0	0	0	0	0	0	0	1	16752	523	19	1		1	TUBB2B	6	3224988	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08		3224988	167890079	492	492											
EDN1	1906	broad.mit.edu	37	chr6	12292633	12292633	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggggagaaacccactcccAgtccaccctggcggctccgc	12	18	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:12292633A>G	uc003nae.3	+	2	458	c.124A>G	c.(124-126)AGT>GGT	p.S42G	EDN1_uc010jpb.2_Missense_Mutation_p.S42G|EDN1_uc003nad.2_Missense_Mutation_p.S42G|EDN1_uc003naf.3_Missense_Mutation_p.S41G	NM_001955	NP_001946	P05305	EDN1_HUMAN	endothelin 1 precursor	42					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			skin(1)	1	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				ACCCACTCCCAGTCCACCCTG	0.607													G	12292633	A	G	12292633	3	3	1	1	0	0	0	0	1	0	0	0	4916	188	7	3	130	3	EDN1	6	12292633	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	9067645	12292633	158822434	493	493											
NUP153	9972	broad.mit.edu	37	chr6	17632903	17632903	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaaacccagattttgtgccTggctttgcactttcacatgc	7	11	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:17632903T>C	uc003ncd.1	-	17	2837	c.2637A>G	c.(2635-2637)CCA>CCG	p.P879P	NUP153_uc011dje.1_Silent_p.P910P|NUP153_uc010jpl.1_Silent_p.P837P	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	879	RanBP2-type 4.				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ATTTTGTGCCTGGCTTTGCAC	0.393													C	17632903	T	C	17632903	2	2	1	1	0	0	0	0	0	0	0	1	10755	1567	55	3		3	NUP153	6	17632903	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	5340270	17632903	153482164	494	494											
KIF13A	63971	broad.mit.edu	37	chr6	17788023	17788023	+	Frame_Shift_Del	DEL	T	T	-													atacctgttttattgctgacTttttttatctgttcatccag							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:17788022_17788022CT>C	uc003ncg.4	-	26	3506	c.3346_3346AG>G	c.(3346-3348)gtcfs	p.V1116fs	KIF13A_uc003ncf.3_Frame_Shift_Del_p.V1103fs|KIF13A_uc003nch.4_Frame_Shift_Del_p.V1116fs|KIF13A_uc003nci.4_Frame_Shift_Del_p.V1103fs	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1116					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTATTGCTGACTTTTTTTATC	0.418													-	17788023	T	-	17788023	7	5	1	1	0	1	0	1	0	0	0	0	8274	1606	56	0	2149	0	KIF13A	6	17788023	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	155120	17788023	153327044	495	495											
SLC17A3	10786	broad.mit.edu	37	chr6	25850802	25850802	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atatggaccaaatgggtagaGatctgagcatagctttgatg	12	5	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:25850802G>T	uc003nfi.3	-	7	754	c.644C>A	c.(643-645)TCT>TAT	p.S215Y	SLC17A3_uc003nfk.3_Missense_Mutation_p.S293Y|SLC17A3_uc011djz.1_3'UTR|SLC17A3_uc011dka.1_Missense_Mutation_p.S215Y	NM_006632	NP_006623	O00476	NPT4_HUMAN	solute carrier family 17 (sodium phosphate),	215					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity				0						AATGGGTAGAGATCTGAGCAT	0.423													T	25850802	G	T	25850802	3	4	1	1	0	0	0	0	1	0	0	0	14418	942	33	5	638	5	SLC17A3	6	25850802	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	8062779	25850802	145264265	496	496											
HIST1H2BI	8346	broad.mit.edu	37	chr6	26273222	26273222	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatgcctgaaccagctaagTcagctcccgccccgaagaag	9	15	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:26273222T>C	uc003nhk.2	+	1	19	c.19T>C	c.(19-21)TCA>CCA	p.S7P	HIST1H3G_uc003nhi.2_5'Flank	NM_003525	NP_003516	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	7					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0						ACCAGCTAAGTCAGCTCCCGC	0.547													C	26273222	T	C	26273222	3	2	1	1	0	0	0	0	1	0	0	0	7148	1667	58	3	21	3	HIST1H2BI	6	26273222	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	422420	26273222	144841845	497	497											
HIST1H2AJ	8331	broad.mit.edu	37	chr6	27782514	27782514	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctccctgcttaccacgcccaGacatggcaaaaggtctatta	7	14	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:27782514G>A	uc003njn.1	-	1	5	c.5C>T	c.(4-6)TCT>TTT	p.S2F	HIST1H2BM_uc003njo.2_5'Flank	NM_021066	NP_066544	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	2				S->A: Blocks the inhibition of transcription by RPS6KA5/MSK1.	nucleosome assembly	nucleosome|nucleus	DNA binding				0						ACCACGCCCAGACATGGCAAA	0.532													A	27782514	G	A	27782514	3	1	1	1	0	0	0	0	1	0	0	0	7136	942	33	4	385	4	HIST1H2AJ	6	27782514	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1509292	27782514	143332553	498	498											
TRIM27	5987	broad.mit.edu	37	chr6	28876773	28876773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaactgctttagactctccGtcaagaatagacatttttgg	8	8	2	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:28876773G>A	uc003nlr.2	-	5	1222	c.863C>T	c.(862-864)ACG>ATG	p.T288M	TRIM27_uc003nls.2_Missense_Mutation_p.T288M|TRIM27_uc003nlt.1_Missense_Mutation_p.T288M	NM_006510	NP_006501	P14373	TRI27_HUMAN	ret finger protein	288	Potential.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			ovary(1)	1						TAGACTCTCCGTCAAGAATAG	0.403			T	RET	papillary thyroid								A	28876773	G	A	28876773	3	1	1	1	0	0	0	0	1	0	0	0	16498	1145	40	1	694	1	TRIM27	6	28876773	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1094259	28876773	142238294	499	499											
OR11A1	26531	broad.mit.edu	37	chr6	29394491	29394491	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcaatcaagtgtttcagtttGtttgatacagagaatcttcc	7	7	4	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:29394491G>C	uc003nmg.2	-	1	1019	c.928C>G	c.(928-930)CAA>GAA	p.Q310E		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A,	310	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GTTTCAGTTTGTTTGATACAG	0.468													C	29394491	G	C	29394491	3	2	1	1	0	0	0	0	1	0	0	0	10924	1386	48	5	23	5	OR11A1	6	29394491	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	517718	29394491	141720576	500	500											
TRIM10	10107	broad.mit.edu	37	chr6	30122214	30122214	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagctcgctggtggtcctcGgacaagaggagcttggggtg	18	8	0	2	rs139417693		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:30122214G>A	uc003npo.3	-	7	1054	c.978C>T	c.(976-978)TCC>TCT	p.S326S	TRIM10_uc003npn.2_Silent_p.S326S	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	tripartite motif-containing 10 isoform 1	326	B30.2/SPRY.					cytoplasm	zinc ion binding				0						GGTGGTCCTCGGACAAGAGGA	0.547													A	30122214	G	A	30122214	2	1	1	1	0	0	0	0	0	0	0	1	16483	1103	39	1		1	TRIM10	6	30122214	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	727723	30122214	140992853	501	501											
TRIM26	7726	broad.mit.edu	37	chr6	30166571	30166571	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagcttctctcggtgtcGctcgcacaactttgcatcct	9	14	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:30166571G>A	uc003npr.2	-	3	519	c.310C>T	c.(310-312)CGA>TGA	p.R104*	TRIM26_uc003nps.2_Nonsense_Mutation_p.R104*|TRIM26_uc010jry.2_5'UTR|TRIM26_uc003npt.2_Nonsense_Mutation_p.R104*|TRIM26_uc003npu.1_Nonsense_Mutation_p.R104*	NM_003449	NP_003440	Q12899	TRI26_HUMAN	tripartite motif-containing 26	104	B box-type.						DNA binding|zinc ion binding			ovary(2)|lung(1)	3						TCTCGGTGTCGCTCGCACAAC	0.642													A	30166571	G	A	30166571	4	1	1	1	0	0	0	0	0	1	0	0	16497	1095	38	1	1337	1	TRIM26	6	30166571	Nonsense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	44357	30166571	140948496	502	502											
TRIM39	56658	broad.mit.edu	37	chr6	30303538	30303538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagactagtggaaagtcGccgacagcagatcttgaggg	14	8	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:30303538G>A	uc010jrz.2	+	5	878	c.566G>A	c.(565-567)CGC>CAC	p.R189H	TRIM39_uc003npz.2_Missense_Mutation_p.R189H|TRIM39_uc003nqb.2_Missense_Mutation_p.R189H|TRIM39_uc003nqc.2_Missense_Mutation_p.R189H|TRIM39_uc010jsa.1_Missense_Mutation_p.R189H	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN	tripartite motif-containing 39 isoform 1	189	Potential.				apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding			ovary(3)	3						GTGGAAAGTCGCCGACAGCAG	0.478													A	30303538	G	A	30303538	3	1	1	1	0	0	0	0	1	0	0	0	16510	1087	38	1	576	1	TRIM39	6	30303538	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	136967	30303538	140811529	503	503											
ABCF1	23	broad.mit.edu	37	chr6	30557938	30557938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctacaggtggtcagaaggCgcgagttgtgtttgctgagc	16	7	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:30557938C>T	uc003nql.2	+	23	2341	c.2246C>T	c.(2245-2247)GCG>GTG	p.A749V	ABCF1_uc003nqm.2_Missense_Mutation_p.A711V|ABCF1_uc010jsb.2_Missense_Mutation_p.A142V	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F, member 1	749	ABC transporter 2.				inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			ovary(2)	2						GGTCAGAAGGCGCGAGTTGTG	0.537													T	30557938	C	T	30557938	3	4	1	1	0	0	0	0	1	0	0	0	65	768	27	1	2336	1	ABCF1	6	30557938	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	254400	30557938	140557129	504	504											
HLA-B	3106	broad.mit.edu	37	chr6	31323092	31323092	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccctcatccccctccttAccccatctcagggtgagggg	9	18	2	1	rs80008536		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:31323092A>G	uc003nth.2	-	4	949	c.895_splice	c.e4+1	p.E299_splice	HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Splice_Site_p.E178_splice|HLA-B_uc003nti.1_Intron	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0						CCCCCTCCTTACCCCATCTCA	0.587									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				G	31323092	A	G	31323092	5	3	1	1	0	0	0	0	0	0	1	0	7196	405	14	3	207	3	HLA-B	6	31323092	Splice_Site	SNP	A	TCGA-B7-5816-01A-21D-1600-08	765154	31323092	139791975	505	505											
HLA-B	3106	broad.mit.edu	37	chr6	31323265	31323265	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtcctcgccatcccgctGccaggtcagtgtgatctccg	11	15	2	1	rs41564218		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:31323265G>A	uc003nth.2	-	4	778	c.724C>T	c.(724-726)CAG>TAG	p.Q242*	HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_RNA|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Nonsense_Mutation_p.Q121*|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	242	Alpha-3.|Ig-like C1-type.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0						CCATCCCGCTGCCAGGTCAGT	0.602									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				A	31323265	G	A	31323265	4	1	1	1	0	0	0	0	0	1	0	0	7196	1328	46	2	380	2	HLA-B	6	31323265	Nonsense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	173	31323265	139791802	506	506											
BAT2	7916	broad.mit.edu	37	chr6	31595600	31595600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgaggatgaggcatggcGgcagcgacgaaagcagtcgt	17	7	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:31595600G>A	uc003nvb.3	+	12	1598	c.1349G>A	c.(1348-1350)CGG>CAG	p.R450Q	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.R450Q	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	450	4 X 57 AA type A repeats.|2 X type B repeats.					cytoplasm|nucleus	protein binding				0						GAGGCATGGCGGCAGCGACGA	0.627													A	31595600	G	A	31595600	3	1	1	1	0	0	0	0	1	0	0	0	1319	1116	39	1	1391	1	BAT2	6	31595600	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	272335	31595600	139519467	507	507											
HSPA1A	3303	broad.mit.edu	37	chr6	31785400	31785400	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcccgggcctgggggcttcGgggctcagggtcccaaggga	19	12	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:31785400G>T	uc003nxj.2	+	1	2110	c.1867G>T	c.(1867-1869)GGG>TGG	p.G623W	HSPA1L_uc003nxh.2_5'Flank|HSPA1L_uc010jte.2_5'Flank|HSPA1A_uc003nxi.1_Missense_Mutation_p.G458W|uc011dok.1_RNA	NM_005345	NP_005336	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	623					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			ovary(1)	1						TGGGGGCTTCGGGGCTCAGGG	0.592													T	31785400	G	T	31785400	3	4	1	1	0	0	0	0	1	0	0	0	7408	1116	39	5	1869	5	HSPA1A	6	31785400	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	189800	31785400	139329667	508	508											
CFB	629	broad.mit.edu	37	chr6	31919243	31919243	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctatgctgaccccaatacTtgcagaggtgagagaatgct	10	11	0	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:31919243T>C	uc003nyj.3	+	16	2360	c.2082T>C	c.(2080-2082)ACT>ACC	p.T694T	CFB_uc011dor.1_Silent_p.T1196T	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	694	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1						ACCCCAATACTTGCAGAGGTG	0.517													C	31919243	T	C	31919243	2	2	1	1	0	0	0	0	0	0	0	1	3278	1596	56	3		3	CFB	6	31919243	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	133843	31919243	139195824	509	509											
SKIV2L	6499	broad.mit.edu	37	chr6	31928060	31928060	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggagccccagtcccatcCgacctacaggcccaaagaca	9	17	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:31928060C>A	uc003nyn.1	+	4	689	c.300C>A	c.(298-300)TCC>TCA	p.S100S	RDBP_uc003nyk.2_5'Flank|RDBP_uc011dot.1_5'Flank|RDBP_uc003nyl.1_5'Flank|RDBP_uc003nym.1_5'Flank|SKIV2L_uc011dou.1_Intron|SKIV2L_uc011dov.1_Intron	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	100						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						CAGTCCCATCCGACCTACAGG	0.522													A	31928060	C	A	31928060	2	1	1	1	0	0	0	0	0	0	0	1	14359	639	23	5		5	SKIV2L	6	31928060	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	8817	31928060	139187007	510	510											
TNXB	7148	broad.mit.edu	37	chr6	32032630	32032630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagacacggggcccacgCgctggccaccgtggaagccg	15	16	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:32032630C>T	uc003nzl.2	-	19	7011	c.6809G>A	c.(6808-6810)CGC>CAC	p.R2270H		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2342	Fibronectin type-III 15.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GGGGCCCACGCGCTGGCCACC	0.597													T	32032630	C	T	32032630	3	4	1	1	0	0	0	0	1	0	0	0	16343	768	27	1	8008	1	TNXB	6	32032630	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	104570	32032630	139082437	511	511											
HLA-DQA2	3118	broad.mit.edu	37	chr6	32713678	32713678	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggtcaacatcacctggCtgagcaatgggcactcagtc	11	12	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:32713678C>T	uc003obx.2	+	3	500	c.442C>T	c.(442-444)CTG>TTG	p.L148L		NM_020056	NP_064440	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ	148	Alpha-2.|Extracellular (Potential).|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATCACCTGGCTGAGCAATGG	0.507													T	32713678	C	T	32713678	2	4	1	1	0	0	0	0	0	0	0	1	7205	796	28	2		2	HLA-DQA2	6	32713678	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	681048	32713678	138401389	512	512											
RING1	6015	broad.mit.edu	37	chr6	33179529	33179529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaagacaactgggaatgCcacagtggaccacctctcca	10	12	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:33179529C>T	uc003odk.2	+	6	1063	c.869C>T	c.(868-870)GCC>GTC	p.A290V	RING1_uc003odl.2_Missense_Mutation_p.A261V	NM_002931	NP_002922	Q06587	RING1_HUMAN	ring finger protein 1	290	Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						ACTGGGAATGCCACAGTGGAC	0.612													T	33179529	C	T	33179529	3	4	1	1	0	0	0	0	1	0	0	0	13374	739	26	2	887	2	RING1	6	33179529	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	465851	33179529	137935538	513	513											
BTBD9	114781	broad.mit.edu	37	chr6	38562049	38562049	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcttctgcagtggtgtcttgGagaggaatttctgcttcagg	14	7	4	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:38562049G>T	uc003ooa.3	-	4	816	c.240C>A	c.(238-240)CTC>CTA	p.L80L	BTBD9_uc003ony.3_Silent_p.L12L|BTBD9_uc010jwv.2_Silent_p.L12L|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Silent_p.L80L	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9 isoform a	80	BTB.				cell adhesion						0						TGGTGTCTTGGAGAGGAATTT	0.458													T	38562049	G	T	38562049	2	4	1	1	0	0	0	0	0	0	0	1	1548	1161	41	5		5	BTBD9	6	38562049	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	5382520	38562049	132553018	514	514											
KLHDC3	116138	broad.mit.edu	37	chr6	42986439	42986439	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaaccggcacttccatgacCtctggaagtttaatcctggt	9	11	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:42986439C>A	uc003otl.2	+	7	971	c.802C>A	c.(802-804)CTC>ATC	p.L268I	C6orf153_uc003otp.1_5'Flank|KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Missense_Mutation_p.L244I|KLHDC3_uc003otn.2_Missense_Mutation_p.L152I|KLHDC3_uc003oto.2_Missense_Mutation_p.L209I	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	268	Kelch 5.				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			upper_aerodigestive_tract(1)	1			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTTCCATGACCTCTGGAAGTT	0.483													A	42986439	C	A	42986439	3	1	1	1	0	0	0	0	1	0	0	0	8357	681	24	5	824	5	KLHDC3	6	42986439	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	4424390	42986439	128128628	515	515											
ZNF318	24149	broad.mit.edu	37	chr6	43323496	43323496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaatgtcgggaaagctacGtcgccttttttcctgtgtac	9	10	1	0	rs151197319	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:43323496G>A	uc003oux.2	-	4	1654	c.1576C>T	c.(1576-1578)CGT>TGT	p.R526C	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	526					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGAAAGCTACGTCGCCTTTTT	0.493													A	43323496	G	A	43323496	3	1	1	1	0	0	0	0	1	0	0	0	17833	1145	40	1	5291	1	ZNF318	6	43323496	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	337057	43323496	127791571	516	516											
AARS2	57505	broad.mit.edu	37	chr6	44278779	44278779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagctctaccagctgggggGctcccaccccaccagcaagg	11	16	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:44278779G>A	uc010jza.1	-	4	704	c.701C>T	c.(700-702)GCC>GTC	p.A234V	SPATS1_uc003oxg.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	234					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CAGCTGGGGGGCTCCCACCCC	0.542													A	44278779	G	A	44278779	3	1	1	1	0	0	0	0	1	0	0	0	20	1203	42	2	2332	2	AARS2	6	44278779	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	955283	44278779	126836288	517	517											
SUPT3H	8464	broad.mit.edu	37	chr6	44922278	44922278	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgctaagatttccattgcgAcaacattgggttttatctcc	7	9	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:44922278A>T	uc003oxo.2	-	10	998	c.680T>A	c.(679-681)GTC>GAC	p.V227D	SUPT3H_uc003oxn.1_Missense_Mutation_p.V216D|SUPT3H_uc011dvv.1_Missense_Mutation_p.V64D|SUPT3H_uc003oxp.2_Missense_Mutation_p.V216D|SUPT3H_uc011dvw.1_Missense_Mutation_p.V130D	NM_181356	NP_852001	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog isoform 2	298					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			ovary(2)|breast(1)	3						TTCCATTGCGACAACATTGGG	0.393													T	44922278	A	T	44922278	3	4	1	1	0	0	0	0	1	0	0	0	15394	275	10	5	322	5	SUPT3H	6	44922278	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	643499	44922278	126192789	518	518											
GSTA2	2939	broad.mit.edu	37	chr6	52615457	52615457	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccaggctgtagaaacTtcttcactgtgggcaggtta	13	9	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:52615457T>G	uc003pay.2	-	7	737	c.587A>C	c.(586-588)AAG>ACG	p.K196T		NM_000846	NP_000837	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	196	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	CTGTAGAAACTTCTTCACTGT	0.453													G	52615457	T	G	52615457	3	3	1	1	0	0	0	0	1	0	0	0	6831	1609	56	5	85	5	GSTA2	6	52615457	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	7693179	52615457	118499610	519	519											
GSTA3	2940	broad.mit.edu	37	chr6	52764820	52764822	+	In_Frame_Del	DEL	AGA	AGA	-													cctcaggtcgacataagggcAgaagaaggatcatttcattc							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:52764819_52764821CAGA>C	uc003pbb.3	-	4	404_406	c.325_327TCTG>G	c.(325-327)ctg>G	p.L109del	GSTA3_uc010jzq.3_In_Frame_Del_p.L53del	NM_000847	NP_000838	Q16772	GSTA3_HUMAN	Homo sapiens glutathione S-transferase alpha 3 (GSTA3), mRNA.	109	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	GACATAAGGGCAGAAGAAGGATC	0.394													-	52764822	AGA	-	52764820	7	5	1	1	0	1	0	1	0	0	0	0	6832	188	7	0	354	0	GSTA3	6	52764820	In_Frame_Del	DEL	AGA	TCGA-B7-5816-01A-21D-1600-08	149363	52764820	118350247	520	520											
GCM1	8521	broad.mit.edu	37	chr6	52993350	52993350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagaagctgcaaggccagCtggtcagaggaaaaggataa	15	6	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:52993350C>T	uc003pbp.2	-	6	1174	c.965G>A	c.(964-966)AGC>AAC	p.S322N		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	glial cells missing homolog a	322						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)	1	Lung NSC(77;0.0755)					GCAAGGCCAGCTGGTCAGAGG	0.478													T	52993350	C	T	52993350	3	4	1	1	0	0	0	0	1	0	0	0	6297	797	28	2	349	2	GCM1	6	52993350	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	228530	52993350	118121717	521	521											
FILIP1	27145	broad.mit.edu	37	chr6	76022804	76022804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgttctcgtggtctggtGtcactcgaatatgcaggggc	14	9	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:76022804G>A	uc003pia.2	-	5	3117	c.2744C>T	c.(2743-2745)ACA>ATA	p.T915I	FILIP1_uc003phy.1_Missense_Mutation_p.T915I|FILIP1_uc003phz.2_Missense_Mutation_p.T816I|FILIP1_uc010kbe.2_Missense_Mutation_p.T918I|FILIP1_uc003pib.1_Missense_Mutation_p.T667I	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	915										skin(3)|ovary(1)	4						GTGGTCTGGTGTCACTCGAAT	0.507													A	76022804	G	A	76022804	3	1	1	1	0	0	0	0	1	0	0	0	5894	1377	48	4	905	4	FILIP1	6	76022804	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	23029454	76022804	95092263	522	522											
SH3BGRL2	83699	broad.mit.edu	37	chr6	80383444	80383445	+	Frame_Shift_Ins	INS	-	-	C													aatggatgtacaaaaacgtcINScccccggaaaagaaacccac							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:80383443_80383444T>TC	uc003piz.1	+	1	337_338	c.158_159T>TC	c.(157-159)gtcfs	p.V53fs		NM_031469	NP_113657	Q9UJC5	SH3L2_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein like 2 (SH3BGRL2), mRNA.	53						nucleus	SH3 domain binding			large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		TACAAAAACGTCCCCCCGGAAA	0.47													C	80383445	-	C	80383444	7	5	1	1	0	1	1	0	0	0	0	0	14242	842	30	0	165	0	SH3BGRL2	6	80383444	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	4360640	80383444	90731623	523	523											
IBTK	25998	broad.mit.edu	37	chr6	82904289	82904289	+	Frame_Shift_Del	DEL	T	T	-													atattttaagtattggtgacTtttcccatggttttaaatct							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:82904288_82904288CT>C	uc003pjl.1	-	22	3773	c.3246_3246AG>G	c.(3244-3246)aagfs	p.K1082fs	IBTK_uc011dyu.1_Frame_Shift_Del_p.K33fs|IBTK_uc011dyv.1_Frame_Shift_Del_p.K1067fs|IBTK_uc011dyw.1_Frame_Shift_Del_p.K881fs|IBTK_uc010kbi.1_Frame_Shift_Del_p.K776fs|IBTK_uc003pjm.2_Frame_Shift_Del_p.K1082fs	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	1082					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GTATTGGTGACTTTTCCCATG	0.393													-	82904289	T	-	82904289	7	5	1	1	0	1	0	1	0	0	0	0	7476	1609	56	0	844	0	IBTK	6	82904289	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	2520845	82904289	88210778	524	524											
SNAP91	9892	broad.mit.edu	37	chr6	84417621	84417621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtactgagcggcggcgatcCgatccgtgagcgtttggccc	15	12	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:84417621C>T	uc011dze.1	-	2	343	c.26G>A	c.(25-27)CGG>CAG	p.R9Q	SNAP91_uc003pkb.2_5'UTR|SNAP91_uc003pkc.2_Missense_Mutation_p.R9Q|SNAP91_uc003pkd.2_Missense_Mutation_p.R9Q|SNAP91_uc003pka.2_Missense_Mutation_p.R9Q|SNAP91_uc011dzf.1_5'UTR	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	9					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GGCGGCGATCCGATCCGTGAG	0.577													T	84417621	C	T	84417621	3	4	1	1	0	0	0	0	1	0	0	0	14833	652	23	1	2805	1	SNAP91	6	84417621	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1513332	84417621	86697446	525	525											
SYNCRIP	10492	broad.mit.edu	37	chr6	86332298	86332298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaccactcattaacctacGccttgcctgggcagctgttt	7	13	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:86332298G>A	uc003pla.2	-	8	1451	c.910C>T	c.(910-912)CGT>TGT	p.R304C	SYNCRIP_uc003pku.2_Missense_Mutation_p.R304C|SYNCRIP_uc003pkw.2_Intron|SYNCRIP_uc003pky.2_Missense_Mutation_p.R206C|SYNCRIP_uc003pkv.2_Missense_Mutation_p.R304C|SYNCRIP_uc003pkx.2_Missense_Mutation_p.R152C|SYNCRIP_uc003pkz.2_Intron	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA	304	RRM 2.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			ovary(2)	2		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		ATTAACCTACGCCTTGCCTGG	0.433													A	86332298	G	A	86332298	3	1	1	1	0	0	0	0	1	0	0	0	15441	1087	38	1	1023	1	SYNCRIP	6	86332298	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1914677	86332298	84782769	526	526											
MDN1	23195	broad.mit.edu	37	chr6	90461210	90461210	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacagaagatgtcagaatgTacgtctcatctattgtaggc	9	8	4	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:90461210T>C	uc003pnn.1	-	23	3283	c.3167A>G	c.(3166-3168)TAC>TGC	p.Y1056C	MDN1_uc003pno.1_Missense_Mutation_p.Y475C	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1056					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGTCAGAATGTACGTCTCATC	0.498													C	90461210	T	C	90461210	3	2	1	1	0	0	0	0	1	0	0	0	9415	1638	57	3	13943	3	MDN1	6	90461210	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	4128912	90461210	80653857	527	527											
CASP8AP2	9994	broad.mit.edu	37	chr6	90577950	90577950	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagtggctgatgaatgTttcaaattgcatcaagtatg	11	4	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:90577950T>C	uc003pnr.2	+	8	5137	c.4941T>C	c.(4939-4941)TGT>TGC	p.C1647C	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.C1647C|CASP8AP2_uc011dzz.1_Silent_p.C1647C	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1647					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CTGATGAATGTTTCAAATTGC	0.373													C	90577950	T	C	90577950	2	2	1	1	0	0	0	0	0	0	0	1	2678	1731	60	3		3	CASP8AP2	6	90577950	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	116740	90577950	80537117	528	528											
CD164	8763	broad.mit.edu	37	chr6	109690119	109690119	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaagaaaattacagcctGcacacccaagaccaggacaa	7	11	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:109690119G>A	uc003pte.2	-	6	710	c.529C>T	c.(529-531)CAG>TAG	p.Q177*	CD164_uc003ptd.2_Intron|CD164_uc003ptf.2_Nonsense_Mutation_p.Q158*|CD164_uc011eap.1_Intron|CD164_uc010kdn.2_Nonsense_Mutation_p.Q164*	NM_006016	NP_006007	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin isoform 1	177	Helical; (Potential).				hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding				0		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		ATTACAGCCTGCACACCCAAG	0.393													A	109690119	G	A	109690119	4	1	1	1	0	0	0	0	0	1	0	0	2969	1328	46	2	119	2	CD164	6	109690119	Nonsense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	19112169	109690119	61424948	529	529											
AKD1	221264	broad.mit.edu	37	chr6	109814734	109814734	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgctccatcttcttcttAtacttttttcttgtgtattc	3	10	4	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:109814734A>G	uc003ptn.2	-	41	5651	c.5574T>C	c.(5572-5574)TAT>TAC	p.Y1858Y	AKD1_uc011eas.1_Silent_p.Y243Y	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1858					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						TCTTCTTCTTATACTTTTTTC	0.363													G	109814734	A	G	109814734	2	3	1	1	0	0	0	0	0	0	0	1	460	456	16	3		3	AKD1	6	109814734	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	124615	109814734	61300333	530	530											
REV3L	5980	broad.mit.edu	37	chr6	111694064	111694064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctaaatcttcacaggccaCgtctacaagttcaccatcag	5	13	6	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:111694064C>T	uc003puy.3	-	13	5817	c.5494G>A	c.(5494-5496)GTG>ATG	p.V1832M	REV3L_uc003pux.3_Missense_Mutation_p.V1754M|REV3L_uc003puz.3_Missense_Mutation_p.V1754M	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1832					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCACAGGCCACGTCTACAAGT	0.423								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	111694064	C	T	111694064	3	4	1	1	0	0	0	0	1	0	0	0	13240	536	19	1	3978	1	REV3L	6	111694064	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1879330	111694064	59421003	531	531											
LAMA4	3910	broad.mit.edu	37	chr6	112493865	112493865	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttcatgtcttcggcatccCtgacatagttaagggcctgg	11	10	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:112493865C>A	uc003pvu.2	-	12	1808	c.1499G>T	c.(1498-1500)AGG>ATG	p.R500M	LAMA4_uc003pvv.2_Missense_Mutation_p.R493M|LAMA4_uc003pvt.2_Missense_Mutation_p.R493M	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	500	Potential.|Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTCGGCATCCCTGACATAGTT	0.537													A	112493865	C	A	112493865	3	1	1	1	0	0	0	0	1	0	0	0	8608	681	24	5	4084	5	LAMA4	6	112493865	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	799801	112493865	58621202	532	532											
COL10A1	1300	broad.mit.edu	37	chr6	116446526	116446526	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actctttatggtgtagggaaTgaagaactgtgtcttggtgt	13	4	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:116446526T>C	uc003pwm.2	-	2	226	c.130A>G	c.(130-132)ATT>GTT	p.I44V	NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	type X collagen alpha 1 precursor	44	Nonhelical region (NC2).				skeletal system development	collagen	metal ion binding			central_nervous_system(1)	1		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GTGTAGGGAATGAAGAACTGT	0.358													C	116446526	T	C	116446526	3	2	1	1	0	0	0	0	1	0	0	0	3666	1464	51	3	1920	3	COL10A1	6	116446526	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	3952661	116446526	54668541	533	533											
GJA1	2697	broad.mit.edu	37	chr6	121768698	121768698	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctatgttttcttcaagggCgttaaggatcgggttaaggg	13	5	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:121768698C>T	uc003pyr.2	+	2	955	c.705C>T	c.(703-705)GGC>GGT	p.G235G	GJA1_uc011ebo.1_Silent_p.G136G|GJA1_uc011ebp.1_Silent_p.G23G	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	235	Cytoplasmic (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCTTCAAGGGCGTTAAGGATC	0.488													T	121768698	C	T	121768698	2	4	1	1	0	0	0	0	0	0	0	1	6400	755	27	1		1	GJA1	6	121768698	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	5322172	121768698	49346369	534	534											
HDDC2	51020	broad.mit.edu	37	chr6	125621702	125621702	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accggtctttgttaagacggTcatctttgatcaccatagcc	8	11	4	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:125621702T>C	uc003qaa.1	-	2	392	c.188A>G	c.(187-189)GAC>GGC	p.D63G	HDDC2_uc003qab.1_RNA	NM_016063	NP_057147	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	63	HD.						metal ion binding|phosphoric diester hydrolase activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		GTTAAGACGGTCATCTTTGAT	0.498													C	125621702	T	C	125621702	3	2	1	1	0	0	0	0	1	0	0	0	7016	1667	58	3	446	3	HDDC2	6	125621702	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	3853004	125621702	45493365	535	535											
TMEM200A	114801	broad.mit.edu	37	chr6	130761733	130761733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttgttcgtggcaaaatcCggctttattccccatctggt	10	10	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:130761733C>T	uc003qca.2	+	3	1037	c.166C>T	c.(166-168)CGG>TGG	p.R56W	TMEM200A_uc010kfh.2_Missense_Mutation_p.R56W|TMEM200A_uc010kfi.2_Missense_Mutation_p.R56W|TMEM200A_uc003qcb.2_Missense_Mutation_p.R56W	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	56	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TGGCAAAATCCGGCTTTATTC	0.498													T	130761733	C	T	130761733	3	4	1	1	0	0	0	0	1	0	0	0	16120	643	23	1	168	1	TMEM200A	6	130761733	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	5140031	130761733	40353334	536	536											
EPB41L2	2037	broad.mit.edu	37	chr6	131206297	131206297	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcacttccctcctgccgTccccatcttgtaccacggca	5	19	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:131206297T>C	uc003qch.2	-	12	1954	c.1772A>G	c.(1771-1773)GAC>GGC	p.D591G	EPB41L2_uc003qce.1_5'Flank|EPB41L2_uc003qcf.1_5'Flank|EPB41L2_uc003qcg.1_Missense_Mutation_p.D591G|EPB41L2_uc011eby.1_Missense_Mutation_p.D591G|EPB41L2_uc003qci.2_Missense_Mutation_p.D591G|EPB41L2_uc010kfk.2_Missense_Mutation_p.D591G|EPB41L2_uc010kfl.1_Missense_Mutation_p.D591G	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	591	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CCTCCTGCCGTCCCCATCTTG	0.473											OREG0017660	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	131206297	T	C	131206297	3	2	1	1	0	0	0	0	1	0	0	0	5153	1667	58	3	1277	3	EPB41L2	6	131206297	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	444564	131206297	39908770	537	537											
EYA4	2070	broad.mit.edu	37	chr6	133844197	133844197	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcctccctattttaggagTaactgcataaatgtcttggt	7	8	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:133844197T>C	uc003qec.3	+	18	2078	c.1620T>C	c.(1618-1620)AGT>AGC	p.S540S	EYA4_uc011ecq.1_Silent_p.S486S|EYA4_uc011ecr.1_Silent_p.S492S|EYA4_uc003qed.3_Silent_p.S540S|EYA4_uc003qee.3_Silent_p.S517S|EYA4_uc011ecs.1_Silent_p.S546S|uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	540					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		ATTTTAGGAGTAACTGCATAA	0.333													C	133844197	T	C	133844197	2	2	1	1	0	0	0	0	0	0	0	1	5331	1635	57	3		3	EYA4	6	133844197	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	2637900	133844197	37270870	538	538											
AHI1	54806	broad.mit.edu	37	chr6	135784284	135784285	+	Frame_Shift_Ins	INS	-	-	T													gctttagtcttcttttttgtINStttttttggtttaggttttg							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:135784283_135784284G>GT	uc003qgi.3	-	7	1294_1295	c.910_911C>AC	c.(910-912)acafs	p.T304fs	AHI1_uc003qgh.3_Frame_Shift_Ins_p.T304fs|AHI1_uc003qgj.3_Frame_Shift_Ins_p.T304fs|AHI1_uc003qgk.4_Non-coding_Transcript|AHI1_uc003qgl.3_Frame_Shift_Ins_p.T304fs	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	304						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTTCTTTTTTGTTTTTTTTGGT	0.307													T	135784285	-	T	135784284	7	5	1	1	0	1	1	0	0	0	0	0	413	1725	60	0	2825	0	AHI1	6	135784284	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	1940087	135784284	35330783	539	539											
IFNGR1	3459	broad.mit.edu	37	chr6	137528210	137528210	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgtaacattagttggtgtAggcactgtaagaaaataaaa	9	3	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:137528210A>G	uc003qho.2	-	2	193	c.90T>C	c.(88-90)CCT>CCC	p.P30P	IFNGR1_uc011edm.1_Silent_p.P2P|IFNGR1_uc011edn.1_Silent_p.P20P	NM_000416	NP_000407	P15260	INGR1_HUMAN	interferon gamma receptor 1 precursor	30	Extracellular (Potential).				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			upper_aerodigestive_tract(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TAGTTGGTGTAGGCACTGTAA	0.358													G	137528210	A	G	137528210	2	3	1	1	0	0	0	0	0	0	0	1	7549	407	15	3		3	IFNGR1	6	137528210	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1743926	137528210	33586857	540	540											
HEBP2	23593	broad.mit.edu	37	chr6	138727163	138727163	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacgtggagcctggttcaggTccttttagtgagtctaccat	11	9	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:138727163T>C	uc003qhw.1	+	3	591	c.294T>C	c.(292-294)GGT>GGC	p.G98G		NM_014320	NP_055135	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	98						mitochondrion					0	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		CTGGTTCAGGTCCTTTTAGTG	0.398													C	138727163	T	C	138727163	2	2	1	1	0	0	0	0	0	0	0	1	7037	1654	58	3		3	HEBP2	6	138727163	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1198953	138727163	32387904	541	541											
C6orf97	80129	broad.mit.edu	37	chr6	151907169	151907169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagctgacacacctggaggCagagctggtttctggaggtg	15	9	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:151907169C>T	uc003qol.2	+	7	1327	c.1238C>T	c.(1237-1239)GCA>GTA	p.A413V		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	413	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		CACCTGGAGGCAGAGCTGGTT	0.488													T	151907169	C	T	151907169	3	4	1	1	0	0	0	0	1	0	0	0	2374	710	25	2	1264	2	C6orf97	6	151907169	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	13180006	151907169	19207898	542	542											
SYNE1	23345	broad.mit.edu	37	chr6	152534877	152534877	+	Frame_Shift_Del	DEL	A	A	-													agaaagtctgatgttgtagcAaaaatgactgcaacttgctg							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:152534876_152534876CA>C	uc021zhb.1	-	120	22588	c.22365_22365TG>G	c.(22363-22365)ttgfs	p.L7455fs	SYNE1_uc003qos.4_Frame_Shift_Del_p.L1979fs|SYNE1_uc003qot.4_Frame_Shift_Del_p.L7384fs|SYNE1_uc003qou.4_Frame_Shift_Del_p.L7455fs|SYNE1_uc003qor.4_Frame_Shift_Del_p.L355fs	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7455					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GATGTTGTAGCAAAAATGACT	0.338										HNSCC(10;0.0054)			-	152534877	A	-	152534877	7	5	1	1	0	1	0	1	0	0	0	0	15442	131	5	0	4198	0	SYNE1	6	152534877	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	627708	152534877	18580190	543	543											
TIAM2	26230	broad.mit.edu	37	chr6	155578018	155578018	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagggtcagaaaggaggagaGcagcccaaactggtccgggg	18	8	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:155578018G>T	uc003qqb.2	+	29	6142	c.4869G>T	c.(4867-4869)GAG>GAT	p.E1623D	TIAM2_uc003qqe.2_Missense_Mutation_p.E1623D|TIAM2_uc010kjj.2_Missense_Mutation_p.E1185D|TIAM2_uc003qqf.2_Missense_Mutation_p.E999D|TIAM2_uc011efl.1_Missense_Mutation_p.E967D|TIAM2_uc003qqg.2_Missense_Mutation_p.E935D|TIAM2_uc003qqh.2_Missense_Mutation_p.E548D|uc003qqi.1_5'Flank	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1623					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)		AAGGAGGAGAGCAGCCCAAAC	0.592													T	155578018	G	T	155578018	3	4	1	1	0	0	0	0	1	0	0	0	15888	962	34	5	4963	5	TIAM2	6	155578018	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	3043141	155578018	15537049	544	544											
TAGAP	117289	broad.mit.edu	37	chr6	159458069	159458069	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgggcacctggggctgcctgCtgggagagctgatgccactg	17	11	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:159458069C>G	uc003qrz.2	-	10	1318	c.986G>C	c.(985-987)AGC>ACC	p.S329T	TAGAP_uc011eft.1_Missense_Mutation_p.S266T|TAGAP_uc003qsa.2_Missense_Mutation_p.S151T	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN	T-cell activation Rho GTPase-activating protein	329					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GGGCTGCCTGCTGGGAGAGCT	0.622													G	159458069	C	G	159458069	3	3	1	1	0	0	0	0	1	0	0	0	15534	797	28	5	1213	5	TAGAP	6	159458069	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3880051	159458069	11656998	545	545											
MLLT4	4301	broad.mit.edu	37	chr6	168265382	168265382	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcgacctgatatgcgaatgcTgtcctctcccaagtattcac	7	13	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:168265382T>A	uc003qwd.2	+	2	399	c.257T>A	c.(256-258)CTG>CAG	p.L86Q	MLLT4_uc003qwb.1_Missense_Mutation_p.L86Q|MLLT4_uc003qwc.1_Missense_Mutation_p.L86Q	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	86	Ras-associating 1.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ATGCGAATGCTGTCCTCTCCC	0.473			T	MLL	AL								A	168265382	T	A	168265382	3	1	1	1	0	0	0	0	1	0	0	0	9629	1580	55	5	263	5	MLLT4	6	168265382	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	8807313	168265382	2849685	546	546											
C6orf120	387263	broad.mit.edu	37	chr6	170102881	170102881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccgtgtccatccccgcgcActtccggcgcccagtgggca	12	19	0	0	rs144803739		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:170102881A>G	uc003qxb.2	+	1	625	c.326A>G	c.(325-327)CAC>CGC	p.H109R	WDR27_uc010kkw.1_5'Flank|WDR27_uc003qwx.2_5'Flank|WDR27_uc003qwy.2_5'Flank|WDR27_uc011egw.1_5'Flank|WDR27_uc010kkx.2_5'Flank|C6orf120_uc011egx.1_Missense_Mutation_p.H128R	NM_001029863	NP_001025034	Q7Z4R8	CF120_HUMAN	hypothetical protein LOC387263 precursor	109						extracellular region					0		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		ATCCCCGCGCACTTCCGGCGC	0.667													G	170102881	A	G	170102881	3	3	1	1	0	0	0	0	1	0	0	0	2324	159	6	3	328	3	C6orf120	6	170102881	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1837499	170102881	1012186	547	547											
CHST12	55501	broad.mit.edu	37	chr7	2472729	2472729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attcgacgacatccccaactCggagctgagccacctgatcg	9	15	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:2472729C>T	uc003smc.2	+	2	590	c.455C>T	c.(454-456)TCG>TTG	p.S152L	CHST12_uc003smd.2_Missense_Mutation_p.S152L	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN	carbohydrate sulfotransferase 12	152	Lumenal (Potential).				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			kidney(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		ATCCCCAACTCGGAGCTGAGC	0.667													T	2472729	C	T	2472729	3	4	1	1	0	0	0	0	1	0	0	0	3400	893	31	1	457	1	CHST12	7	2472729	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08		2472729	156665934	548	548											
IQCE	23288	broad.mit.edu	37	chr7	2618111	2618111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaatctgcttaccacaggGcacggattttgttcggactc	9	12	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:2618111G>A	uc003smo.3	+	8	765	c.581G>A	c.(580-582)GGC>GAC	p.G194D	IQCE_uc010ksm.1_Missense_Mutation_p.G194D|IQCE_uc003sml.1_Missense_Mutation_p.G194D|IQCE_uc011jvy.1_Missense_Mutation_p.G178D|IQCE_uc011jvz.1_Missense_Mutation_p.G129D|IQCE_uc003smk.3_Missense_Mutation_p.G178D|IQCE_uc003smn.3_Missense_Mutation_p.G129D	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	IQ motif containing E isoform 1	194	Potential.										0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		TTACCACAGGGCACGGATTTT	0.602													A	2618111	G	A	2618111	3	1	1	1	0	0	0	0	1	0	0	0	7806	1217	42	2	611	2	IQCE	7	2618111	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	145382	2618111	156520552	549	549											
SDK1	221935	broad.mit.edu	37	chr7	4008919	4008919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggccagtggctctgtccGgattcctaggttcatgcttc	11	12	3	0	rs144938504		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:4008919G>A	uc003smx.2	+	11	1716	c.1577G>A	c.(1576-1578)CGG>CAG	p.R526Q		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	526	Ig-like C2-type 5.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGCTCTGTCCGGATTCCTAGG	0.502													A	4008919	G	A	4008919	3	1	1	1	0	0	0	0	1	0	0	0	13968	1116	39	1	1619	1	SDK1	7	4008919	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1390808	4008919	155129744	550	550											
WIPI2	26100	broad.mit.edu	37	chr7	5266905	5266905	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaagtgacagaaatgttcAaccagggcagagccttcgcc	10	13	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:5266905A>G	uc003snv.2	+	10	1159	c.943A>G	c.(943-945)AAC>GAC	p.N315D	WIPI2_uc003snw.2_Missense_Mutation_p.N315D|WIPI2_uc003snx.2_Missense_Mutation_p.N297D|WIPI2_uc003sny.2_Missense_Mutation_p.N297D|WIPI2_uc010ksv.2_Missense_Mutation_p.N171D|WIPI2_uc003soa.2_Missense_Mutation_p.N256D|WIPI2_uc003sob.2_Missense_Mutation_p.N58D	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	315					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		AGAAATGTTCAACCAGGGCAG	0.622													G	5266905	A	G	5266905	3	3	1	1	0	0	0	0	1	0	0	0	17368	130	5	3	1015	3	WIPI2	7	5266905	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1257986	5266905	153871758	551	551											
WIPI2	26100	broad.mit.edu	37	chr7	5270512	5270512	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcgcctgcctggaggaCgaggccagcgccctgcgcct	17	15	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:5270512C>T	uc003snv.2	+	13	1515	c.1299C>T	c.(1297-1299)GAC>GAT	p.D433D	WIPI2_uc003snw.2_Silent_p.D422D|WIPI2_uc003snx.2_Silent_p.D415D|WIPI2_uc003sny.2_Silent_p.D404D|WIPI2_uc010ksv.2_Silent_p.D289D|WIPI2_uc003soa.2_Silent_p.D363D|WIPI2_uc003sob.2_Silent_p.D176D	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	433					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GCCTGGAGGACGAGGCCAGCG	0.632													T	5270512	C	T	5270512	2	4	1	1	0	0	0	0	0	0	0	1	17368	535	19	1		1	WIPI2	7	5270512	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3607	5270512	153868151	552	552											
SLC29A4	222962	broad.mit.edu	37	chr7	5334526	5334526	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacgggtacacggggatgCtgcccaagcggtacacgcag	14	12	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:5334526C>T	uc003sod.2	+	6	741	c.580C>T	c.(580-582)CTG>TTG	p.L194L	SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Silent_p.L194L|SLC29A4_uc003soe.2_Silent_p.L180L	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (nucleoside	194	Extracellular (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			liver(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CACGGGGATGCTGCCCAAGCG	0.498													T	5334526	C	T	5334526	2	4	1	1	0	0	0	0	0	0	0	1	14537	796	28	2		2	SLC29A4	7	5334526	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	64014	5334526	153804137	553	553											
THSD7A	221981	broad.mit.edu	37	chr7	11521576	11521576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagggatggggaagatgGcatctctgcacagctgtctg	14	10	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:11521576G>A	uc003ssf.3	-	7	2108	c.1856C>T	c.(1855-1857)GCC>GTC	p.A619V		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	619	Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGGGAAGATGGCATCTCTGCA	0.493										HNSCC(18;0.044)			A	11521576	G	A	11521576	3	1	1	1	0	0	0	0	1	0	0	0	15876	1203	42	2	3201	2	THSD7A	7	11521576	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	6187050	11521576	147617087	554	554											
ITGB8	3696	broad.mit.edu	37	chr7	20418790	20418790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatagaaaaattaaattccGttggaaacgatttatctaga	6	4	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:20418790G>A	uc003suu.2	+	4	1210	c.505G>A	c.(505-507)GTT>ATT	p.V169I	ITGB8_uc011jyh.1_Missense_Mutation_p.V34I|ITGB8_uc003sut.2_Missense_Mutation_p.V169I	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	169	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						ATTAAATTCCGTTGGAAACGA	0.338													A	20418790	G	A	20418790	3	1	1	1	0	0	0	0	1	0	0	0	7901	1145	40	1	519	1	ITGB8	7	20418790	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	8897214	20418790	138719873	555	555											
FAM126A	84668	broad.mit.edu	37	chr7	23023639	23023639	+	Frame_Shift_Del	DEL	T	T	-													ctttcaaatttgtggcataaTttggtaaagatgtttctggt							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:23023638_23023638AT>A	uc003svm.4	-	2	333	c.78_78AT>T	c.(76-78)aatfs	p.N26fs	FAM126A_uc003svn.4_5'UTR|FAM126A_uc011jyr.1_Intron	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	Homo sapiens family with sequence similarity 126, member A (FAM126A), mRNA.	26						cytoplasm|membrane	signal transducer activity	p.N26K(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						TTGTGGCATAATTTGGTAAAG	0.303													-	23023639	T	-	23023639	7	5	1	1	0	1	0	1	0	0	0	0	5429	1493	52	0	1524	0	FAM126A	7	23023639	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	2604849	23023639	136115024	556	556											
JAZF1	221895	broad.mit.edu	37	chr7	27934856	27934856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgtcggagtgctgctgCggaatgaagaggagggggtg	19	7	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:27934856C>T	uc003szn.2	-	3	609	c.368G>A	c.(367-369)CGC>CAC	p.R123H	JAZF1_uc003szm.2_Missense_Mutation_p.R59H	NM_175061	NP_778231	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	123					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(131)	soft_tissue(98)|endometrium(33)	131						AGTGCTGCTGCGGAATGAAGA	0.612			T	SUZ12	endometrial stromal tumours								T	27934856	C	T	27934856	3	4	1	1	0	0	0	0	1	0	0	0	7946	768	27	1	375	1	JAZF1	7	27934856	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	4911217	27934856	131203807	557	557											
INMT	11185	broad.mit.edu	37	chr7	30795374	30795374	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgctggctttgacattgaAcagctcctacacagtcccca	8	13	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:30795374A>G	uc003tbs.1	+	3	715	c.699A>G	c.(697-699)GAA>GAG	p.E233E	FAM188B_uc010kwe.2_Intron|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Silent_p.E232E	NM_006774	NP_006765	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	233						cytoplasm	amine N-methyltransferase activity				0						TTGACATTGAACAGCTCCTAC	0.577													G	30795374	A	G	30795374	2	3	1	1	0	0	0	0	0	0	0	1	7745	40	2	3		3	INMT	7	30795374	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	2860518	30795374	128343289	558	558											
BBS9	27241	broad.mit.edu	37	chr7	33644526	33644526	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagaagaaagatcagtagaAcaagactctacagaactgtt	8	7	2	6			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:33644526A>C	uc003tdn.1	+	22	3084	c.2571A>C	c.(2569-2571)GAA>GAC	p.E857D	BBS9_uc003tdo.1_Missense_Mutation_p.E822D|BBS9_uc003tdp.1_Missense_Mutation_p.E852D|BBS9_uc003tdq.1_Missense_Mutation_p.E817D|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.E381D|BBS9_uc003tds.1_Missense_Mutation_p.E280D|BBS9_uc003tdt.2_Intron	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	857					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			GATCAGTAGAACAAGACTCTA	0.418									Bardet-Biedl_syndrome				C	33644526	A	C	33644526	3	2	1	1	0	0	0	0	1	0	0	0	1342	40	2	5	2653	5	BBS9	7	33644526	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	2849152	33644526	125494137	559	559											
GPR141	353345	broad.mit.edu	37	chr7	37780104	37780104	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgggctggtgggtgtcattTccattcttttcctcctggtg	13	10	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:37780104T>C	uc003tfm.1	+	1	109	c.109T>C	c.(109-111)TCC>CCC	p.S37P	uc003tfl.2_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	37	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						GGGTGTCATTTCCATTCTTTT	0.502													C	37780104	T	C	37780104	3	2	1	1	0	0	0	0	1	0	0	0	6649	1783	62	3	111	3	GPR141	7	37780104	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	4135578	37780104	121358559	560	560											
INHBA	3624	broad.mit.edu	37	chr7	41729419	41729419	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtagtggttgatgactgtTgagtggaaggacagtgagga	18	3	0	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:41729419T>C	uc003thq.2	-	2	1345	c.1110A>G	c.(1108-1110)TCA>TCG	p.S370S	INHBA_uc003thr.2_Silent_p.S370S	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	370					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			lung(5)|ovary(1)	6						TGATGACTGTTGAGTGGAAGG	0.562										TSP Lung(11;0.080)			C	41729419	T	C	41729419	2	2	1	1	0	0	0	0	0	0	0	1	7741	1799	63	3		3	INHBA	7	41729419	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	3949315	41729419	117409244	561	561											
NPC1L1	29881	broad.mit.edu	37	chr7	44561376	44561377	+	Frame_Shift_Ins	INS	-	-	GG													aaggcggcagcaggaggacgINSgggtcagccagtcaatgaag					rs144720939	by1000genomes	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:44561375_44561376C>CGG	uc003tlb.3	-	11	2944_2945	c.2888_2889G>CCG	c.(2887-2889)ccgfs	p.P963fs	NPC1L1_uc011kbw.2_Frame_Shift_Ins_p.P917fs|NPC1L1_uc003tlc.3_Frame_Shift_Ins_p.P963fs|NPC1L1_uc003tla.3_5'Flank	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	963					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGCAGGAGGACGGGGTCAGCCA	0.599													GG	44561377	-	GG	44561376	7	5	1	1	0	1	1	0	0	0	0	0	10571	1116	39	0	1227	0	NPC1L1	7	44561376	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	2831957	44561376	114577287	562	562											
TNS3	64759	broad.mit.edu	37	chr7	47408631	47408631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaggcccaggtccggaaCgagggtgccctgcggatctt	15	13	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:47408631C>T	uc003tnv.2	-	17	1979	c.1612G>A	c.(1612-1614)GTT>ATT	p.V538I	TNS3_uc003tnw.2_Missense_Mutation_p.V538I	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	538						focal adhesion	protein binding			ovary(4)	4						AGGTCCGGAACGAGGGTGCCC	0.632													T	47408631	C	T	47408631	3	4	1	1	0	0	0	0	1	0	0	0	16341	536	19	1	2785	1	TNS3	7	47408631	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2847255	47408631	111730032	563	563											
ABCA13	154664	broad.mit.edu	37	chr7	48318563	48318563	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaagataaatgatttgtTggtgccatttcttgacttgg	10	4	1	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:48318563T>C	uc003toq.2	+	18	7797	c.7772T>C	c.(7771-7773)TTG>TCG	p.L2591S	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2591					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AATGATTTGTTGGTGCCATTT	0.313													C	48318563	T	C	48318563	3	2	1	1	0	0	0	0	1	0	0	0	31	1821	63	3	7671	3	ABCA13	7	48318563	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	909932	48318563	110820100	564	564											
ABCA13	154664	broad.mit.edu	37	chr7	48428702	48428702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggagtcaccctggtgtctGtgaccaaggaatatgagggc	15	9	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:48428702G>A	uc003toq.2	+	37	11564	c.11539G>A	c.(11539-11541)GTG>ATG	p.V3847M	ABCA13_uc010kys.1_Missense_Mutation_p.V921M|ABCA13_uc003tos.1_Missense_Mutation_p.V673M|ABCA13_uc010kyt.1_RNA	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3847	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CCTGGTGTCTGTGACCAAGGA	0.537													A	48428702	G	A	48428702	3	1	1	1	0	0	0	0	1	0	0	0	31	1377	48	4	11514	4	ABCA13	7	48428702	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	110139	48428702	110709961	565	565											
IKZF1	10320	broad.mit.edu	37	chr7	50444307	50444307	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaatggggaagaatgtgcGgaggatttacgaatgcttga	15	3	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:50444307G>A	uc003tow.3	+	5	405	c.237G>A	c.(235-237)GCG>GCA	p.A79A	IKZF1_uc003tox.3_Silent_p.A79A|IKZF1_uc003toy.3_Silent_p.A79A|IKZF1_uc011kck.1_Intron|IKZF1_uc003toz.3_Silent_p.A49A|IKZF1_uc010kyx.2_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	79					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(74)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AAGAATGTGCGGAGGATTTAC	0.498			D		ALL								A	50444307	G	A	50444307	2	1	1	1	0	0	0	0	0	0	0	1	7614	1103	39	1		1	IKZF1	7	50444307	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2015605	50444307	108694356	566	566											
FIGNL1	63979	broad.mit.edu	37	chr7	50514060	50514060	+	Frame_Shift_Del	DEL	T	T	-													cacgctgaggttggtggtacTttttttgctgatctacccat							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:50514059_50514059CT>C	uc003tpd.3	-	3	1297	c.927_927AG>G	c.(925-927)aagfs	p.K309fs	FIGNL1_uc003tpb.3_Frame_Shift_Del_p.K198fs|FIGNL1_uc003tpc.3_Frame_Shift_Del_p.K309fs|FIGNL1_uc003tpe.3_Frame_Shift_Del_p.K309fs|FIGNL1_uc010kyy.3_Frame_Shift_Del_p.K309fs|FIGNL1_uc022ada.1_Frame_Shift_Del_p.K309fs	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	309					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				GTTGGTGGTACTTTTTTTGCT	0.428													-	50514060	T	-	50514060	7	5	1	1	0	1	0	1	0	0	0	0	5892	1609	56	0	1102	0	FIGNL1	7	50514060	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	69753	50514060	108624603	567	567											
EGFR	1956	broad.mit.edu	37	chr7	55224509	55224509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactggatattctgaaaacCgtaaaggaaatcacaggttt	9	6	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:55224509C>T	uc003tqk.2	+	10	1437	c.1191C>T	c.(1189-1191)ACC>ACT	p.T397T	EGFR_uc003tqh.2_Silent_p.T397T|EGFR_uc003tqi.2_Silent_p.T397T|EGFR_uc003tqj.2_Silent_p.T397T|EGFR_uc010kzg.1_Silent_p.T352T|EGFR_uc011kco.1_Silent_p.T344T|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	397	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TTCTGAAAACCGTAAAGGAAA	0.393		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55224509	C	T	55224509	2	4	1	1	0	0	0	0	0	0	0	1	4967	639	23	1		1	EGFR	7	55224509	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	4710449	55224509	103914154	568	568											
ZNF107	51427	broad.mit.edu	37	chr7	64168653	64168653	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttaatagacataagataatTcatactggagagaaacctta	6	6	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:64168653T>A	uc003ttd.2	+	7	2757	c.1971T>A	c.(1969-1971)ATT>ATA	p.I657I	ZNF107_uc003tte.2_Silent_p.I657I	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	657	C2H2-type 21.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ATAAGATAATTCATACTGGAG	0.373													A	64168653	T	A	64168653	2	1	1	1	0	0	0	0	0	0	0	1	17712	1771	62	5		5	ZNF107	7	64168653	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	8944144	64168653	94970010	569	569											
ASL	435	broad.mit.edu	37	chr7	65546853	65546853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcatggagaagttcaacGcgtccattgcctacgaccgg	10	13	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:65546853G>A	uc003tuo.2	+	3	187	c.76G>A	c.(76-78)GCG>ACG	p.A26T	ASL_uc011kdu.1_Missense_Mutation_p.A26T|ASL_uc010kzx.1_Missense_Mutation_p.A26T|ASL_uc011kdv.1_Missense_Mutation_p.A26T|ASL_uc003tup.2_Missense_Mutation_p.A26T|ASL_uc003tur.2_Missense_Mutation_p.A26T|ASL_uc003tuq.2_Missense_Mutation_p.A26T	NM_000048	NP_000039	P04424	ARLY_HUMAN	argininosuccinate lyase isoform 1	26					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(2)	2					L-Arginine(DB00125)	GAAGTTCAACGCGTCCATTGC	0.587													A	65546853	G	A	65546853	3	1	1	1	0	0	0	0	1	0	0	0	1044	1087	38	1	82	1	ASL	7	65546853	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1378200	65546853	93591810	570	570											
CALN1	83698	broad.mit.edu	37	chr7	71571249	71571249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgaagccgttcccatccCggtccagaacccgaaaggcc	10	15	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:71571249C>T	uc003twa.3	-	3	676	c.149G>A	c.(148-150)CGG>CAG	p.R50Q	CALN1_uc003twb.3_Missense_Mutation_p.R92Q|CALN1_uc003twc.3_Missense_Mutation_p.R50Q	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN	calneuron 1 isoform 2	50	EF-hand 1.|Cytoplasmic (Potential).|1 (Potential).					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GTTCCCATCCCGGTCCAGAAC	0.542													T	71571249	C	T	71571249	3	4	1	1	0	0	0	0	1	0	0	0	2591	652	23	1	526	1	CALN1	7	71571249	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	6024396	71571249	87567414	571	571											
CLDN4	1364	broad.mit.edu	37	chr7	73245572	73245572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtaatgggcatcgcgctggCcgtcctgggctggctggccg	18	12	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:73245572C>T	uc003tzi.3	+	1	380	c.41C>T	c.(40-42)GCC>GTC	p.A14V	RFC2_uc011kfa.1_Intron|CLDN4_uc003tzh.1_RNA	NM_001305	NP_001296	O14493	CLD4_HUMAN	claudin 4	14	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity				0		Lung NSC(55;0.159)				ATCGCGCTGGCCGTCCTGGGC	0.657													T	73245572	C	T	73245572	3	4	1	1	0	0	0	0	1	0	0	0	3487	739	26	2	43	2	CLDN4	7	73245572	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1674323	73245572	85893091	572	572											
LAT2	7462	broad.mit.edu	37	chr7	73638400	73638400	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggggacctcagcctgtcActggccctgaagactggccc	13	14	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:73638400A>G	uc003uag.2	+	12	1051	c.501A>G	c.(499-501)TCA>TCG	p.S167S	RFC2_uc011kfa.1_Intron|LAT2_uc003uah.2_Silent_p.S167S|LAT2_uc003uai.2_Silent_p.S167S|LAT2_uc010lbo.2_RNA	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family member	167	Cytoplasmic (Potential).				B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding				0						TCAGCCTGTCACTGGCCCTGA	0.597													G	73638400	A	G	73638400	2	3	1	1	0	0	0	0	0	0	0	1	8645	146	6	3		3	LAT2	7	73638400	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	392828	73638400	85500263	573	573											
RSBN1L	222194	broad.mit.edu	37	chr7	77379112	77379112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaccagcctaatggaggtGcatcggttatccatgcctac	10	12	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:77379112G>A	uc010ldt.1	+	3	1119	c.1075G>A	c.(1075-1077)GCA>ACA	p.A359T	RSBN1L_uc003ugm.2_Missense_Mutation_p.A141T	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	359						nucleus				ovary(1)	1						TAATGGAGGTGCATCGGTTAT	0.438													A	77379112	G	A	77379112	3	1	1	1	0	0	0	0	1	0	0	0	13697	1319	46	2	1085	2	RSBN1L	7	77379112	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	3740712	77379112	81759551	574	574											
GNAI1	2770	broad.mit.edu	37	chr7	79828642	79828642	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agattgtggaaagatagtggTgtacaagcctgtttcaacag	12	5	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:79828642T>C	uc003uhb.1	+	4	742	c.405T>C	c.(403-405)GGT>GGC	p.G135G	GNAI1_uc011kgt.1_Silent_p.G83G	NM_002069	NP_002060	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein),	135					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						AAGATAGTGGTGTACAAGCCT	0.403													C	79828642	T	C	79828642	2	2	1	1	0	0	0	0	0	0	0	1	6504	1683	59	3		3	GNAI1	7	79828642	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	2449530	79828642	79310021	575	575											
SEMA3D	223117	broad.mit.edu	37	chr7	84628962	84628962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtctttgtatctcaaccGtgactcagccaatagatcct	7	11	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:84628962G>A	uc003uic.2	-	17	2168	c.2128C>T	c.(2128-2130)CGG>TGG	p.R710W	SEMA3D_uc010led.2_Missense_Mutation_p.R710W|SEMA3D_uc003uib.2_Missense_Mutation_p.R349W	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	710					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						TATCTCAACCGTGACTCAGCC	0.488													A	84628962	G	A	84628962	3	1	1	1	0	0	0	0	1	0	0	0	14027	1144	40	1	209	1	SEMA3D	7	84628962	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	4800320	84628962	74509701	576	576											
ABCB1	5243	broad.mit.edu	37	chr7	87173503	87173503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcctccatttataatgGcacaaaatacaccaacaaca	5	12	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:87173503G>A	uc003uiz.1	-	18	2571	c.2153C>T	c.(2152-2154)GCC>GTC	p.A718V	ABCB1_uc011khc.1_Missense_Mutation_p.A654V	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	718	ABC transmembrane type-1 2.|Helical; (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATTTATAATGGCACAAAATAC	0.358													A	87173503	G	A	87173503	3	1	1	1	0	0	0	0	1	0	0	0	40	1203	42	2	1737	2	ABCB1	7	87173503	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2544541	87173503	71965160	577	577											
SAMD9L	219285	broad.mit.edu	37	chr7	92762328	92762328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcagagggtgaatgataCgcacacctgtgtatctccca	9	11	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:92762328C>T	uc003umh.1	-	5	4173	c.2957G>A	c.(2956-2958)CGT>CAT	p.R986H	SAMD9L_uc003umj.1_Missense_Mutation_p.R986H|SAMD9L_uc003umi.1_Missense_Mutation_p.R986H|SAMD9L_uc010lfb.1_Missense_Mutation_p.R986H|SAMD9L_uc003umk.1_Missense_Mutation_p.R986H|SAMD9L_uc010lfc.1_Missense_Mutation_p.R986H|SAMD9L_uc010lfd.1_Missense_Mutation_p.R986H|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	986										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GTGAATGATACGCACACCTGT	0.378													T	92762328	C	T	92762328	3	4	1	1	0	0	0	0	1	0	0	0	13827	536	19	1	1801	1	SAMD9L	7	92762328	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	5588825	92762328	66376335	578	578											
SLC25A13	10165	broad.mit.edu	37	chr7	95799420	95799420	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctttgtgcataaatttatcCctcacaaaatcgttcacctt	3	11	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:95799420C>A	uc003uof.3	-	13	1439	c.1248G>T	c.(1246-1248)AGG>AGT	p.R416S	SLC25A13_uc003uog.3_Missense_Mutation_p.R417S|SLC25A13_uc011kik.1_Missense_Mutation_p.R308S	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	416	Solcar 1.				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TAAATTTATCCCTCACAAAAT	0.338													A	95799420	C	A	95799420	3	1	1	1	0	0	0	0	1	0	0	0	14475	622	22	5	803	5	SLC25A13	7	95799420	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3037092	95799420	63339243	579	579											
TRRAP	8295	broad.mit.edu	37	chr7	98567888	98567888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagcaggagccccgggagCgggagaacagcgagtccaaa	15	11	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:98567888C>T	uc003upp.2	+	51	7854	c.7645C>T	c.(7645-7647)CGG>TGG	p.R2549W	TRRAP_uc011kis.1_Missense_Mutation_p.R2531W|TRRAP_uc003upr.2_Missense_Mutation_p.R2248W	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2549					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCCCCGGGAGCGGGAGAACAG	0.637													T	98567888	C	T	98567888	3	4	1	1	0	0	0	0	1	0	0	0	16598	759	27	1	7785	1	TRRAP	7	98567888	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2768468	98567888	60570775	580	580											
PTCD1	26024	broad.mit.edu	37	chr7	99032463	99032463	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caagaagtaccagtacggggTgtttctccggcctcgccata	11	12	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:99032463T>A	uc003uqh.2	-	2	534	c.403A>T	c.(403-405)ACC>TCC	p.T135S	PTCD1_uc011kiw.1_Missense_Mutation_p.T184S	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	135	PPR 1.									ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CAGTACGGGGTGTTTCTCCGG	0.552													A	99032463	T	A	99032463	3	1	1	1	0	0	0	0	1	0	0	0	12727	1696	59	5	1727	5	PTCD1	7	99032463	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	464575	99032463	60106200	581	581											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99123463	99123463	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccagggacaatatggagcTcatagtgaagcagatttctg	12	7	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:99123463T>C	uc003uqv.2	+	6	924	c.800T>C	c.(799-801)CTC>CCC	p.L267P	ZKSCAN5_uc010lfx.2_Missense_Mutation_p.L267P|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.L267P|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.L194P|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.L3P	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	267	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AATATGGAGCTCATAGTGAAG	0.423													C	99123463	T	C	99123463	3	2	1	1	0	0	0	0	1	0	0	0	17687	1551	54	3	818	3	ZKSCAN5	7	99123463	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	91000	99123463	60015200	582	582											
ZKSCAN1	7586	broad.mit.edu	37	chr7	99627895	99627895	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggtgaagatcgaggacatGgctgtgtccctcattctgga	13	8	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:99627895G>T	uc003usk.1	+	5	915	c.696G>T	c.(694-696)ATG>ATT	p.M232I	ZKSCAN1_uc003usl.1_Missense_Mutation_p.M196I|ZKSCAN1_uc003usm.1_Missense_Mutation_p.M19I	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	zinc finger protein 36	232	KRAB.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TCGAGGACATGGCTGTGTCCC	0.502													T	99627895	G	T	99627895	3	4	1	1	0	0	0	0	1	0	0	0	17683	1348	47	5	710	5	ZKSCAN1	7	99627895	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	504432	99627895	59510768	583	583											
TAF6	6878	broad.mit.edu	37	chr7	99709350	99709350	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgggcaggatcactcaCgtatttttctagatagagcg	12	7	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:99709350C>T	uc003uti.2	-	9	981	c.900_splice	c.e9+1	p.Y300_splice	TAF6_uc003utg.2_Splice_Site_p.Y222_splice|TAF6_uc003uth.2_Splice_Site_p.Y357_splice|TAF6_uc003utk.2_Splice_Site_p.Y300_splice|TAF6_uc011kji.1_Splice_Site_p.Y337_splice|TAF6_uc003utj.2_Splice_Site_p.Y290_splice|TAF6_uc003utl.2_Splice_Site_p.Y300_splice|TAF6_uc003utm.2_Splice_Site_p.Y300_splice|TAF6_uc003utn.1_Splice_Site	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha						negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGATCACTCACGTATTTTTCT	0.463													T	99709350	C	T	99709350	5	4	1	1	0	0	0	0	0	0	1	0	15527	550	19	1	1160	1	TAF6	7	99709350	Splice_Site	SNP	C	TCGA-B7-5816-01A-21D-1600-08	81455	99709350	59429313	584	584											
ZAN	7455	broad.mit.edu	37	chr7	100388641	100388641	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagaaccgcaagaatgacAtgatgctgcccagtggcgcc	11	12	0	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:100388641A>G	uc003uwj.2	+	41	7600	c.7435A>G	c.(7435-7437)ATG>GTG	p.M2479V	ZAN_uc003uwk.2_Missense_Mutation_p.M2479V|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Intron	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	2479	VWFD 4.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CAAGAATGACATGATGCTGCC	0.607													G	100388641	A	G	100388641	3	3	1	1	0	0	0	0	1	0	0	0	17510	217	8	3	7588	3	ZAN	7	100388641	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	679291	100388641	58750022	585	585											
MUC17	140453	broad.mit.edu	37	chr7	100678670	100678670	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctacacctgctgaaggtAccagcatgccaacctcaact	6	16	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:100678670A>G	uc003uxp.1	+	3	4026	c.3973A>G	c.(3973-3975)ACC>GCC	p.T1325A	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1325	Extracellular (Potential).|20.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCTGAAGGTACCAGCATGCC	0.463													G	100678670	A	G	100678670	3	3	1	1	0	0	0	0	1	0	0	0	9974	391	14	3	3983	3	MUC17	7	100678670	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	290029	100678670	58459993	586	586											
ZNHIT1	10467	broad.mit.edu	37	chr7	100866016	100866016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcgggactccctcagctcGgcaagagactgcctcagttt	11	14	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:100866016G>A	uc003uye.2	+	2	646	c.154G>A	c.(154-156)GGC>AGC	p.G52S	ZNHIT1_uc003uyf.2_RNA	NM_006349	NP_006340	O43257	ZNHI1_HUMAN	zinc finger, HIT domain containing 1	52							metal ion binding|protein binding			large_intestine(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)					CCCTCAGCTCGGCAAGAGACT	0.662													A	100866016	G	A	100866016	3	1	1	1	0	0	0	0	1	0	0	0	18203	1116	39	1	160	1	ZNHIT1	7	100866016	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	187346	100866016	58272647	587	587											
SLC26A5	375611	broad.mit.edu	37	chr7	103038409	103038409	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgttccaacgacatccacaTtgtatgattctttcaagtta	6	9	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:103038409T>C	uc003vbz.2	-	9	1177	c.941A>G	c.(940-942)AAT>AGT	p.N314S	SLC26A5_uc003vbt.1_Missense_Mutation_p.N314S|SLC26A5_uc003vbu.1_Missense_Mutation_p.N314S|SLC26A5_uc003vbv.1_Missense_Mutation_p.N314S|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.N314S|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	314	Extracellular (Potential).				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						GACATCCACATTGTATGATTC	0.373													C	103038409	T	C	103038409	3	2	1	1	0	0	0	0	1	0	0	0	14520	1493	52	3	1382	3	SLC26A5	7	103038409	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	2172393	103038409	56100254	588	588											
ORC5L	5001	broad.mit.edu	37	chr7	103824586	103824586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttaccttctcctttaaccaCgggttcacaatatttaggaa	6	10	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:103824586C>T	uc003vcb.2	-	7	829	c.718G>A	c.(718-720)GTG>ATG	p.V240M	ORC5L_uc011klp.1_Missense_Mutation_p.V108M|ORC5L_uc003vcc.2_Missense_Mutation_p.V240M	NM_002553	NP_002544	O43913	ORC5_HUMAN	origin recognition complex subunit 5 isoform 1	240					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding				0						CCTTTAACCACGGGTTCACAA	0.249													T	103824586	C	T	103824586	3	4	1	1	0	0	0	0	1	0	0	0	11265	536	19	1	719	1	ORC5L	7	103824586	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	786177	103824586	55314077	589	589											
PIK3CG	5294	broad.mit.edu	37	chr7	106522606	106522606	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgggagactgaatctttggaTctatgcctcctgccatatgg	11	9	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:106522606T>A	uc003vdv.3	+	7	2668	c.2583T>A	c.(2581-2583)GAT>GAA	p.D861E	PIK3CG_uc003vdu.2_Missense_Mutation_p.D861E|PIK3CG_uc003vdw.2_Missense_Mutation_p.D861E	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	861	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						AATCTTTGGATCTATGCCTCC	0.343													A	106522606	T	A	106522606	3	1	1	1	0	0	0	0	1	0	0	0	11916	1432	50	5	2605	5	PIK3CG	7	106522606	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	2698020	106522606	52616057	590	590											
HBP1	26959	broad.mit.edu	37	chr7	106820374	106820374	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagacaaatcagatgcctaaTgcagtacagaaactcctgtt	7	9	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:106820374T>C	uc003vdy.2	+	2	222	c.36T>C	c.(34-36)AAT>AAC	p.N12N	HBP1_uc011klv.1_Silent_p.N22N|HBP1_uc003vdz.2_Silent_p.N12N|HBP1_uc003vea.2_Silent_p.N12N|HBP1_uc003veb.1_Silent_p.N12N	NM_012257	NP_036389	O60381	HBP1_HUMAN	HMG-box transcription factor 1	12					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			skin(1)	1						AGATGCCTAATGCAGTACAGA	0.418													C	106820374	T	C	106820374	2	2	1	1	0	0	0	0	0	0	0	1	6985	1461	51	3		3	HBP1	7	106820374	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	297768	106820374	52318289	591	591											
LAMB4	22798	broad.mit.edu	37	chr7	107692696	107692696	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttcatttagctgcatgatTtgtcttctatagaggaaata	8	5	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:107692696T>G	uc010ljo.1	-	26	3846	c.3762A>C	c.(3760-3762)CAA>CAC	p.Q1254H	LAMB4_uc003vey.2_Missense_Mutation_p.Q1254H|LAMB4_uc010ljp.1_Missense_Mutation_p.Q223H	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1254	Domain II.|Potential.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						GCTGCATGATTTGTCTTCTAT	0.333													G	107692696	T	G	107692696	3	3	1	1	0	0	0	0	1	0	0	0	8613	1838	64	5	1559	5	LAMB4	7	107692696	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	872322	107692696	51445967	592	592											
LAMB4	22798	broad.mit.edu	37	chr7	107738871	107738871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcccagggggtcggtgGcgcttagtccgtagtggttg	19	9	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:107738871G>A	uc010ljo.1	-	11	1421	c.1337C>T	c.(1336-1338)GCC>GTC	p.A446V	LAMB4_uc003vey.2_Missense_Mutation_p.A446V	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	446	Laminin EGF-like 3.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						GGGGTCGGTGGCGCTTAGTCC	0.547													A	107738871	G	A	107738871	3	1	1	1	0	0	0	0	1	0	0	0	8613	1203	42	2	4044	2	LAMB4	7	107738871	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	46175	107738871	51399792	593	593											
NRCAM	4897	broad.mit.edu	37	chr7	107824928	107824928	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcccaatgctgttcactgcCatcacgcggaaggagtagtt	10	11	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:107824928C>A	uc003vfb.2	-	21	2637	c.2166G>T	c.(2164-2166)ATG>ATT	p.M722I	NRCAM_uc003vfc.2_Missense_Mutation_p.M706I|NRCAM_uc011kmk.1_Missense_Mutation_p.M717I|NRCAM_uc003vfd.2_Missense_Mutation_p.M698I|NRCAM_uc003vfe.2_Missense_Mutation_p.M698I	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	722	Fibronectin type-III 1.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						TGTTCACTGCCATCACGCGGA	0.547													A	107824928	C	A	107824928	3	1	1	1	0	0	0	0	1	0	0	0	10644	594	21	5	1830	5	NRCAM	7	107824928	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	86057	107824928	51313735	594	594											
ANKRD7	56311	broad.mit.edu	37	chr7	117865046	117865046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaatatgatgtaaatatGcaggacaaaaaatacaggtg	9	3	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:117865046G>A	uc003vji.2	+	1	335	c.162G>A	c.(160-162)ATG>ATA	p.M54I		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	54					male gonad development						0						ATGTAAATATGCAGGACAAAA	0.458													A	117865046	G	A	117865046	3	1	1	1	0	0	0	0	1	0	0	0	686	1319	46	2	164	2	ANKRD7	7	117865046	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	10040118	117865046	41273617	595	595											
PTPRZ1	5803	broad.mit.edu	37	chr7	121659280	121659280	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcgtgtcagccctgacttTtatctgtctagtggttcttg	10	9	4	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:121659280T>G	uc003vjy.2	+	13	5341	c.4946T>G	c.(4945-4947)TTT>TGT	p.F1649C	PTPRZ1_uc003vjz.2_Missense_Mutation_p.F789C|PTPRZ1_uc011knt.1_Missense_Mutation_p.F239C	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1649	Helical; (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						GCCCTGACTTTTATCTGTCTA	0.413													G	121659280	T	G	121659280	3	3	1	1	0	0	0	0	1	0	0	0	12814	1841	64	5	4996	5	PTPRZ1	7	121659280	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	3794234	121659280	37479383	596	596											
AASS	10157	broad.mit.edu	37	chr7	121773676	121773676	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcggggcccttctctcccaGgcgttcacatcctccctccg	9	19	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:121773676G>T	uc003vka.2	-	1	201	c.105C>A	c.(103-105)GCC>GCA	p.A35A	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.A35A|AASS_uc011knw.1_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	35	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	TTCTCTCCCAGGCGTTCACAT	0.577													T	121773676	G	T	121773676	2	4	1	1	0	0	0	0	0	0	0	1	24	987	35	5		5	AASS	7	121773676	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	114396	121773676	37364987	597	597											
CADPS2	93664	broad.mit.edu	37	chr7	122269329	122269329	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttatctgccaattgcagCcggccatcaagttcccttct	6	13	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:122269329C>T	uc010lkp.2	-	4	1003	c.840G>A	c.(838-840)CGG>CGA	p.R280R	CADPS2_uc010lkq.2_Silent_p.R280R	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	280					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						CCAATTGCAGCCGGCCATCAA	0.358													T	122269329	C	T	122269329	2	4	1	1	0	0	0	0	0	0	0	1	2571	726	26	2		2	CADPS2	7	122269329	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	495653	122269329	36869334	598	598											
RNF148	378925	broad.mit.edu	37	chr7	122342177	122342177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaggtgtaagtctccagaCgcaatctaagtaaaagtagg	10	7	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:122342177C>T	uc003vkk.1	-	1	845	c.628G>A	c.(628-630)GTC>ATC	p.V210I	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF133_uc003vkj.1_5'Flank|RNF148_uc010lkr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	ring finger protein 148 precursor	210						integral to membrane	zinc ion binding				0						AGTCTCCAGACGCAATCTAAG	0.448													T	122342177	C	T	122342177	3	4	1	1	0	0	0	0	1	0	0	0	13449	536	19	1	293	1	RNF148	7	122342177	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	72848	122342177	36796486	599	599											
GRM8	2918	broad.mit.edu	37	chr7	126883204	126883204	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggatccagtagaacttggCggtcaagaggaagaaacaag	14	6	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:126883204C>A	uc003vlr.2	-	1	366	c.55G>T	c.(55-57)GCC>TCC	p.A19S	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.A19S|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	19					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TAGAACTTGGCGGTCAAGAGG	0.478										HNSCC(24;0.065)			A	126883204	C	A	126883204	3	1	1	1	0	0	0	0	1	0	0	0	6803	768	27	5	2761	5	GRM8	7	126883204	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	4541027	126883204	32255459	600	600											
FLNC	2318	broad.mit.edu	37	chr7	128483511	128483511	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggtgctgaccaagggagcCggcaaggccaagctggatgt	16	10	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:128483511C>T	uc003vnz.3	+	18	2900	c.2691C>T	c.(2689-2691)GCC>GCT	p.A897A	FLNC_uc003voa.3_Silent_p.A897A	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	897	Filamin 7.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CCAAGGGAGCCGGCAAGGCCA	0.592													T	128483511	C	T	128483511	2	4	1	1	0	0	0	0	0	0	0	1	5935	639	23	1		1	FLNC	7	128483511	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1600307	128483511	30655152	601	601											
AKR1B1	231	broad.mit.edu	37	chr7	134130027	134130027	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccagttcctgttgtagcTgagtaaggtggtcatatcct	10	10	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:134130027T>G	uc003vrp.1	-	9	945	c.871A>C	c.(871-873)AGC>CGC	p.S291R	AKR1B1_uc003vrq.1_RNA	NM_001628	NP_001619	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1	291					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			ovary(3)	3					NADH(DB00157)|Sulindac(DB00605)	CTGTTGTAGCTGAGTAAGGTG	0.438													G	134130027	T	G	134130027	3	3	1	1	0	0	0	0	1	0	0	0	466	1580	55	5	87	5	AKR1B1	7	134130027	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	5646516	134130027	25008636	602	602											
SLC13A4	26266	broad.mit.edu	37	chr7	135380132	135380132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacttgcagcccaggaacaGccagtgcatccagaaccagc	9	15	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:135380132G>A	uc003vta.2	-	9	1689	c.1000C>T	c.(1000-1002)CTG>TTG	p.L334L	SLC13A4_uc003vtb.2_Silent_p.L335L	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate	334						integral to plasma membrane	sodium:sulfate symporter activity				0						CCCAGGAACAGCCAGTGCATC	0.577													A	135380132	G	A	135380132	2	1	1	1	0	0	0	0	0	0	0	1	14394	962	34	2		2	SLC13A4	7	135380132	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1250105	135380132	23758531	603	603											
KLRG2	346689	broad.mit.edu	37	chr7	139168322	139168322	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtggggaccaggcttcCcacgggctccattgggagct	15	13	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:139168322C>A	uc003vvb.2	-	1	136	c.67G>T	c.(67-69)GGA>TGA	p.G23*	KLRG2_uc010lnc.2_Nonsense_Mutation_p.G23*	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G,	23	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)	1	Melanoma(164;0.233)					ACCAGGCTTCCCACGGGCTCC	0.716													A	139168322	C	A	139168322	4	1	1	1	0	0	0	0	0	1	0	0	8422	632	22	5	1182	5	KLRG2	7	139168322	Nonsense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3788190	139168322	19970341	604	604											
AGK	55750	broad.mit.edu	37	chr7	141315316	141315316	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatttatcccactgggagagAccagtagtttgagtcatacc	10	9	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:141315316A>G	uc003vwi.2	+	8	640	c.469A>G	c.(469-471)ACC>GCC	p.T157A	AGK_uc011krg.1_RNA	NM_018238	NP_060708	Q53H12	AGK_HUMAN	acylglycerol kinase precursor	157	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			ovary(1)|breast(1)	2	Melanoma(164;0.0171)					ACTGGGAGAGACCAGTAGTTT	0.448													G	141315316	A	G	141315316	3	3	1	1	0	0	0	0	1	0	0	0	383	275	10	3	495	3	AGK	7	141315316	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	2146994	141315316	17823347	605	605											
WEE2	494551	broad.mit.edu	37	chr7	141422976	141422976	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctgaaaacactaagtctgGcaatcattttgaagagccaa	7	8	3	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:141422976G>T	uc003vwn.2	+	6	1329	c.923G>T	c.(922-924)GGC>GTC	p.G308V	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	308	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)					ACTAAGTCTGGCAATCATTTT	0.423													T	141422976	G	T	141422976	3	4	1	1	0	0	0	0	1	0	0	0	17342	1203	42	5	945	5	WEE2	7	141422976	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	107660	141422976	17715687	606	606											
TAS2R4	50832	broad.mit.edu	37	chr7	141478568	141478568	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtttcatgtttttggactcgAgcagtgtctggtttgtgacc	12	7	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:141478568A>T	uc003vwq.1	+	1	280	c.280A>T	c.(280-282)AGC>TGC	p.S94C		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	taste receptor T2R4	94	Helical; Name=3; (Potential).				sensory perception of taste	cilium membrane	taste receptor activity				0	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TTTGGACTCGAGCAGTGTCTG	0.423													T	141478568	A	T	141478568	3	4	1	1	0	0	0	0	1	0	0	0	15574	304	11	5	282	5	TAS2R4	7	141478568	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	55592	141478568	17660095	607	607											
ARHGEF5	7984	broad.mit.edu	37	chr7	144070295	144070295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcacccctagctgatccGggactgcaataacaatgtcc	8	14	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:144070295G>A	uc003wel.2	+	10	4176	c.4058G>A	c.(4057-4059)CGG>CAG	p.R1353Q	ARHGEF5_uc003wek.2_Missense_Mutation_p.R1353Q|ARHGEF5_uc003wem.2_Missense_Mutation_p.R208Q	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	rho guanine nucleotide exchange factor 5	1353	DH.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			skin(2)	2	Melanoma(164;0.14)					TAGCTGATCCGGGACTGCAAT	0.493													A	144070295	G	A	144070295	3	1	1	1	0	0	0	0	1	0	0	0	909	1116	39	1	4092	1	ARHGEF5	7	144070295	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2591727	144070295	15068368	608	608											
CUL1	8454	broad.mit.edu	37	chr7	148454195	148454195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctcaatagacattgggttCgccgtgaatgtgacgaagga	12	8	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:148454195C>T	uc010lpg.2	+	4	962	c.436C>T	c.(436-438)CGC>TGC	p.R146C	CUL1_uc003wey.2_Missense_Mutation_p.R146C|CUL1_uc003wez.2_Missense_Mutation_p.R36C	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	146					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ACATTGGGTTCGCCGTGAATG	0.318													T	148454195	C	T	148454195	3	4	1	1	0	0	0	0	1	0	0	0	4054	884	31	1	446	1	CUL1	7	148454195	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	4383900	148454195	10684468	609	609											
ZNF425	155054	broad.mit.edu	37	chr7	148801971	148801971	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accggtcacactgcggacacTggaagggcttctctccgctg	12	14	2	0	rs146873821	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:148801971T>C	uc003wfj.2	-	4	1065	c.992A>G	c.(991-993)CAG>CGG	p.Q331R		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	331	C2H2-type 5.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTGCGGACACTGGAAGGGCTT	0.672													C	148801971	T	C	148801971	3	2	1	1	0	0	0	0	1	0	0	0	17896	1580	55	3	1270	3	ZNF425	7	148801971	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	347776	148801971	10336692	610	610											
ZNF746	155061	broad.mit.edu	37	chr7	149171815	149171815	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagggccgctcgccggtgTgcagcatgcgatggcggatg	19	10	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:149171815T>C	uc003wfw.2	-	7	1866	c.1595A>G	c.(1594-1596)CAC>CGC	p.H532R	ZNF746_uc010lpi.2_Missense_Mutation_p.H533R	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 2	532	C2H2-type 2.				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|breast(1)	3	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CTCGCCGGTGTGCAGCATGCG	0.637													C	149171815	T	C	149171815	3	2	1	1	0	0	0	0	1	0	0	0	18126	1696	59	3	343	3	ZNF746	7	149171815	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	369844	149171815	9966848	611	611											
KCNH2	3757	broad.mit.edu	37	chr7	150648700	150648700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgctgttgtagggtttgCctatctggtcgcccaggttg	14	10	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:150648700C>T	uc003wic.2	-	7	1794	c.1781G>A	c.(1780-1782)GGC>GAC	p.G594D	KCNH2_uc003wib.2_Missense_Mutation_p.G254D|KCNH2_uc011kux.1_Missense_Mutation_p.G498D|KCNH2_uc003wid.2_Missense_Mutation_p.G254D|KCNH2_uc003wie.2_Missense_Mutation_p.G594D	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	594	Extracellular (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GTAGGGTTTGCCTATCTGGTC	0.612													T	150648700	C	T	150648700	3	4	1	1	0	0	0	0	1	0	0	0	8032	739	26	2	2003	2	KCNH2	7	150648700	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1476885	150648700	8489963	612	612											
PTPRN2	5799	broad.mit.edu	37	chr7	158109597	158109597	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaaagtccattgccggaAccttctggcaccttccaaac	8	13	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:158109597A>G	uc003wno.2	-	3	312	c.191T>C	c.(190-192)GTT>GCT	p.V64A	PTPRN2_uc003wnp.2_Missense_Mutation_p.V47A|PTPRN2_uc003wnq.2_Missense_Mutation_p.V64A|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Missense_Mutation_p.V87A	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	64	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CATTGCCGGAACCTTCTGGCA	0.577													G	158109597	A	G	158109597	3	3	1	1	0	0	0	0	1	0	0	0	12808	43	2	3	2940	3	PTPRN2	7	158109597	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	7460897	158109597	1029066	613	613											
ARHGEF10	9639	broad.mit.edu	37	chr8	1844563	1844563	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatttcagcacagccgtggCagtcctcaagaaaacatgtg	9	11	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:1844563C>A	uc003wpr.2	+	14	1683	c.1505C>A	c.(1504-1506)GCA>GAA	p.A502E	ARHGEF10_uc003wpq.1_Missense_Mutation_p.A527E|ARHGEF10_uc003wps.2_Missense_Mutation_p.A464E|ARHGEF10_uc003wpt.2_Missense_Mutation_p.A378E|ARHGEF10_uc003wpv.2_Missense_Mutation_p.A235E|ARHGEF10_uc010lre.2_Missense_Mutation_p.A182E	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	527	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ACAGCCGTGGCAGTCCTCAAG	0.393													A	1844563	C	A	1844563	3	1	1	1	0	0	0	0	1	0	0	0	894	710	25	5	1555	5	ARHGEF10	8	1844563	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08		1844563	144519459	614	614											
MYOM2	9172	broad.mit.edu	37	chr8	2024225	2024225	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatccctgccccaagatgcTgacccgctggtcacaggggc	11	16	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:2024225T>C	uc003wpx.3	+	11	1263	c.1125T>C	c.(1123-1125)GCT>GCC	p.A375A	MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	375					muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCCAAGATGCTGACCCGCTGG	0.592													C	2024225	T	C	2024225	2	2	1	1	0	0	0	0	0	0	0	1	10092	1567	55	3		3	MYOM2	8	2024225	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	179662	2024225	144339797	615	615											
MYOM2	9172	broad.mit.edu	37	chr8	2033495	2033495	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacccactccccgtggcaaGgacccgctcatgtacttcat	7	18	2	0	rs137923713	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:2033495G>T	uc003wpx.3	+	14	1755	c.1617G>T	c.(1615-1617)AAG>AAT	p.K539N	MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	539	Fibronectin type-III 2.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCCGTGGCAAGGACCCGCTCA	0.597													T	2033495	G	T	2033495	3	4	1	1	0	0	0	0	1	0	0	0	10092	991	35	5	1667	5	MYOM2	8	2033495	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	9270	2033495	144330527	616	616											
MYOM2	9172	broad.mit.edu	37	chr8	2050557	2050557	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgtcggagcctgtgctggTagaggcgagaccaggtaagg	17	9	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:2050557T>C	uc003wpx.3	+	21	2858	c.2720T>C	c.(2719-2721)GTA>GCA	p.V907A	MYOM2_uc011kwi.1_Missense_Mutation_p.V332A	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	907	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCTGTGCTGGTAGAGGCGAGA	0.512													C	2050557	T	C	2050557	3	2	1	1	0	0	0	0	1	0	0	0	10092	1638	57	3	2798	3	MYOM2	8	2050557	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	17062	2050557	144313465	617	617											
CSMD1	64478	broad.mit.edu	37	chr8	2832084	2832084	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgcacgacggcgccatAggtaaacagctctccagtga	12	11	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:2832084A>G	uc011kwk.1	-	56	9022	c.8632T>C	c.(8632-8634)TAT>CAT	p.Y2878H	CSMD1_uc011kwj.1_Missense_Mutation_p.Y2207H|CSMD1_uc010lrg.2_Missense_Mutation_p.Y888H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2878	Sushi 21.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACGGCGCCATAGGTAAACAGC	0.557													G	2832084	A	G	2832084	3	3	1	1	0	0	0	0	1	0	0	0	3944	420	15	3	2125	3	CSMD1	8	2832084	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	781527	2832084	143531938	618	618											
CSMD1	64478	broad.mit.edu	37	chr8	3000057	3000057	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtggatgagggtttcatgCgttgtgctcagcagggccgc	16	8	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:3000057C>T	uc011kwk.1	-	41	6564	c.6174G>A	c.(6172-6174)ACG>ACA	p.T2058T	CSMD1_uc011kwj.1_Silent_p.T1450T|CSMD1_uc010lrg.2_Silent_p.T126T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2058	Extracellular (Potential).|CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGGTTTCATGCGTTGTGCTCA	0.478													T	3000057	C	T	3000057	2	4	1	1	0	0	0	0	0	0	0	1	3944	755	27	1		1	CSMD1	8	3000057	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	167973	3000057	143363965	619	619											
CSMD1	64478	broad.mit.edu	37	chr8	3474261	3474261	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacctgctcttctaccattTtctggaatcccaggatctgg	8	12	4	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:3474261T>C	uc011kwk.1	-	8	1458	c.1068A>G	c.(1066-1068)GAA>GAG	p.E356E		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	356	Extracellular (Potential).|Sushi 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCTACCATTTTCTGGAATCC	0.378													C	3474261	T	C	3474261	2	2	1	1	0	0	0	0	0	0	0	1	3944	1838	64	3		3	CSMD1	8	3474261	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	474204	3474261	142889761	620	620											
AGPAT5	55326	broad.mit.edu	37	chr8	6605313	6605313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtttatgaagggaaagacGatggagggcagcgaagagag	18	3	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:6605313G>A	uc003wqo.2	+	6	1021	c.709G>A	c.(709-711)GAT>AAT	p.D237N	AGPAT5_uc011kwm.1_Intron	NM_018361	NP_060831	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	237					phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity				0			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		AGGGAAAGACGATGGAGGGCA	0.433													A	6605313	G	A	6605313	3	1	1	1	0	0	0	0	1	0	0	0	390	1058	37	1	731	1	AGPAT5	8	6605313	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	3131052	6605313	139758709	621	621											
SGK223	157285	broad.mit.edu	37	chr8	8235191	8235191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcgctgtccccggagggcGagcacctttgatcactgtca	11	15	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:8235191G>A	uc003wsh.3	-	2	728	c.728C>T	c.(727-729)TCG>TTG	p.S243L		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	243							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						CCCGGAGGGCGAGCACCTTTG	0.652													A	8235191	G	A	8235191	3	1	1	1	0	0	0	0	1	0	0	0	14210	1059	37	1	3496	1	SGK223	8	8235191	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1629878	8235191	138128831	622	622											
TNKS	8658	broad.mit.edu	37	chr8	9564375	9564375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttactccactgcacgagGctgcttccaagaaccgtgta	9	12	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:9564375G>A	uc003wss.2	+	8	1329	c.1324G>A	c.(1324-1326)GCT>ACT	p.A442T	TNKS_uc011kwv.1_Missense_Mutation_p.A442T|TNKS_uc011kww.1_Missense_Mutation_p.A205T	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	442	ANK 6.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		ACTGCACGAGGCTGCTTCCAA	0.448													A	9564375	G	A	9564375	3	1	1	1	0	0	0	0	1	0	0	0	16316	1203	42	2	1354	2	TNKS	8	9564375	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1329184	9564375	136799647	623	623											
RP1L1	94137	broad.mit.edu	37	chr8	10465956	10465956	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacatcttctgactctggCtgggcctctccttctgcctc	7	16	6	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:10465956C>T	uc003wtc.2	-	4	5881	c.5652G>A	c.(5650-5652)CAG>CAA	p.Q1884Q		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1884					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CTGACTCTGGCTGGGCCTCTC	0.622													T	10465956	C	T	10465956	2	4	1	1	0	0	0	0	0	0	0	1	13533	796	28	2		2	RP1L1	8	10465956	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	901581	10465956	135898066	624	624											
RP1L1	94137	broad.mit.edu	37	chr8	10468348	10468348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttggagcccatcagcgccCtcatgatctgcgtggaggca	13	13	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:10468348C>T	uc003wtc.2	-	4	3489	c.3260G>A	c.(3259-3261)AGG>AAG	p.R1087K		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1087					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CATCAGCGCCCTCATGATCTG	0.692													T	10468348	C	T	10468348	3	4	1	1	0	0	0	0	1	0	0	0	13533	681	24	4	3946	4	RP1L1	8	10468348	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2392	10468348	135895674	625	625											
RP1L1	94137	broad.mit.edu	37	chr8	10470816	10470816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgcctggcggagaccgCgaatggatcacactcggctt	14	12	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:10470816C>T	uc003wtc.2	-	4	1021	c.792G>A	c.(790-792)TCG>TCA	p.S264S		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	264					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GCGGAGACCGCGAATGGATCA	0.632													T	10470816	C	T	10470816	2	4	1	1	0	0	0	0	0	0	0	1	13533	755	27	1		1	RP1L1	8	10470816	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2468	10470816	135893206	626	626											
AMAC1L2	83650	broad.mit.edu	37	chr8	11189448	11189448	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgcggtcaccaaggcccAccctgccctggtgtgcgctg	12	16	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:11189448A>G	uc003wtp.1	+	1	954	c.833A>G	c.(832-834)CAC>CGC	p.H278R		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	acyl-malonyl condensing enzyme	278	DUF6 2.					integral to membrane					0			STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)		ACCAAGGCCCACCCTGCCCTG	0.567													G	11189448	A	G	11189448	3	3	1	1	0	0	0	0	1	0	0	0	560	159	6	3	835	3	AMAC1L2	8	11189448	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	718632	11189448	135174574	627	627											
NEIL2	252969	broad.mit.edu	37	chr8	11643661	11643661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaaagaacagtgccctgCtggccaccaggtcatgaagg	12	12	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:11643661C>T	uc003wug.2	+	5	1553	c.878C>T	c.(877-879)GCT>GTT	p.A293V	NEIL2_uc003wue.2_Missense_Mutation_p.A293V|NEIL2_uc003wuf.2_Missense_Mutation_p.A232V|NEIL2_uc011kxd.1_Missense_Mutation_p.A177V	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	nei like 2 isoform a	293	FPG-type.				base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding				0	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		CAGTGCCCTGCTGGCCACCAG	0.607								BER_DNA_glycosylases					T	11643661	C	T	11643661	3	4	1	1	0	0	0	0	1	0	0	0	10319	797	28	2	897	2	NEIL2	8	11643661	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	454213	11643661	134720361	628	628											
MTUS1	57509	broad.mit.edu	37	chr8	17612117	17612117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcccaccttttgtcctggCgggctacttagaatcaattc	9	12	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:17612117C>T	uc003wxv.2	-	2	1674	c.1200G>A	c.(1198-1200)CCG>CCA	p.P400P	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Silent_p.P400P|MTUS1_uc010lsz.2_Silent_p.P400P	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	400						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		TTTGTCCTGGCGGGCTACTTA	0.448													T	17612117	C	T	17612117	2	4	1	1	0	0	0	0	0	0	0	1	9965	755	27	1		1	MTUS1	8	17612117	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	5968456	17612117	128751905	629	629											
FGL1	2267	broad.mit.edu	37	chr8	17739683	17739683	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctcctgggcacagtcctcGagcgcctgcaaaacaggtga	12	13	0	1	rs146639128		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:17739683G>A	uc003wxx.2	-	4	393	c.69C>T	c.(67-69)CTC>CTT	p.L23L	FGL1_uc003wxy.2_Silent_p.L23L|FGL1_uc003wxz.2_Silent_p.L23L|FGL1_uc003wya.2_Silent_p.L23L|FGL1_uc003wyb.2_Silent_p.L23L|FGL1_uc003wyc.2_Silent_p.L23L|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Silent_p.L73L|FGL1_uc003wyf.2_5'UTR	NM_201553	NP_963847	Q08830	FGL1_HUMAN	fibrinogen-like 1 precursor	23	Potential.				signal transduction	fibrinogen complex	receptor binding				0				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		CACAGTCCTCGAGCGCCTGCA	0.488													A	17739683	G	A	17739683	2	1	1	1	0	0	0	0	0	0	0	1	5872	1045	37	1		1	FGL1	8	17739683	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	127566	17739683	128624339	630	630											
PCM1	5108	broad.mit.edu	37	chr8	17796319	17796319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgtcagcttagtgaaaaccGaaagcccttcaactttttgc	7	11	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:17796319G>A	uc003wyi.3	+	5	835	c.413G>A	c.(412-414)CGA>CAA	p.R138Q	PCM1_uc011kyh.1_Missense_Mutation_p.R138Q|PCM1_uc003wyj.3_Missense_Mutation_p.R138Q|PCM1_uc003wyg.2_Missense_Mutation_p.R138Q|PCM1_uc003wyh.2_Missense_Mutation_p.R138Q|PCM1_uc010lta.1_Missense_Mutation_p.R138Q	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	138					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)		AGTGAAAACCGAAAGCCCTTC	0.398			T	RET|JAK2	papillary thyroid|CML|MPD								A	17796319	G	A	17796319	3	1	1	1	0	0	0	0	1	0	0	0	11584	1058	37	1	423	1	PCM1	8	17796319	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	56636	17796319	128567703	631	631											
ASAH1	427	broad.mit.edu	37	chr8	17915118	17915118	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggtaacatctatcaaggtTgtgtatacggtcagctgaaa	10	6	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:17915118T>C	uc003wyl.2	-	14	1425	c.1113A>G	c.(1111-1113)ACA>ACG	p.T371T	ASAH1_uc010ltb.1_RNA|ASAH1_uc003wym.2_Silent_p.T346T|ASAH1_uc003wyn.2_Silent_p.T387T|ASAH1_uc003wyo.2_Silent_p.T365T	NM_177924	NP_808592	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase 1 isoform a	371					ceramide metabolic process	lysosome	ceramidase activity				0				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		CTATCAAGGTTGTGTATACGG	0.393													C	17915118	T	C	17915118	2	2	1	1	0	0	0	0	0	0	0	1	1006	1799	63	3		3	ASAH1	8	17915118	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	118799	17915118	128448904	632	632											
FAM160B2	64760	broad.mit.edu	37	chr8	21958207	21958207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgagggccgcccttacGtggcctggggctcaccagag	14	14	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:21958207G>A	uc011kyx.1	+	11	1495	c.1444G>A	c.(1444-1446)GTG>ATG	p.V482M	FAM160B2_uc011kyy.1_RNA	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	retinoic acid induced 16	482											0						CCGCCCTTACGTGGCCTGGGG	0.627													A	21958207	G	A	21958207	3	1	1	1	0	0	0	0	1	0	0	0	5471	1145	40	1	1285	1	FAM160B2	8	21958207	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	4043089	21958207	124405815	633	633											
HR	55806	broad.mit.edu	37	chr8	21980012	21980012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgggtcttacctgctgGcctgcatccccgggggccca	13	17	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:21980012G>A	uc003xas.2	-	8	2780	c.2115C>T	c.(2113-2115)GGC>GGT	p.G705G	HR_uc003xat.2_Silent_p.G705G	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	705							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TTACCTGCTGGCCTGCATCCC	0.612													A	21980012	G	A	21980012	2	1	1	1	0	0	0	0	0	0	0	1	7347	1190	42	2		2	HR	8	21980012	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	21805	21980012	124384010	634	634											
HR	55806	broad.mit.edu	37	chr8	21984903	21984903	+	Frame_Shift_Del	DEL	C	C	-													gttcgctggctccactggcaCccccctccaggccctcctgg							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:21984902_21984902AC>A	uc003xas.3	-	2	1718	c.1053_1053GT>T	c.(1051-1053)ggtfs	p.G351fs	HR_uc003xat.3_Frame_Shift_Del_p.G351fs	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	351							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTCCACTGGCACCCCCCTCCA	0.652													-	21984903	C	-	21984903	7	5	1	1	0	1	0	1	0	0	0	0	7347	507	18	0	2585	0	HR	8	21984903	Frame_Shift_Del	DEL	C	TCGA-B7-5816-01A-21D-1600-08	4891	21984903	124379119	635	635											
LGI3	203190	broad.mit.edu	37	chr8	22006196	22006196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaactccaggtcggtgtcaCggtgccaggggtgcagtgcc	15	12	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:22006196C>T	uc003xav.2	-	8	1413	c.1124G>A	c.(1123-1125)CGT>CAT	p.R375H	LGI3_uc010ltu.2_Missense_Mutation_p.R351H	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	375	EAR 4.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GTCGGTGTCACGGTGCCAGGG	0.632													T	22006196	C	T	22006196	3	4	1	1	0	0	0	0	1	0	0	0	8753	536	19	1	526	1	LGI3	8	22006196	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	21293	22006196	124357826	636	636											
BMP1	649	broad.mit.edu	37	chr8	22053004	22053004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgctctcggcccaaccgcGggggctgtgagcagcggtgc	17	13	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:22053004G>A	uc003xbg.2	+	13	1913	c.1669G>A	c.(1669-1671)GGG>AGG	p.G557R	BMP1_uc003xba.2_Missense_Mutation_p.G557R|BMP1_uc003xbb.2_Missense_Mutation_p.G557R|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Missense_Mutation_p.G306R|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Missense_Mutation_p.G306R|BMP1_uc011kzc.1_Missense_Mutation_p.G306R|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	557	EGF-like 1; calcium-binding (Potential).				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCCCAACCGCGGGGGCTGTGA	0.632													A	22053004	G	A	22053004	3	1	1	1	0	0	0	0	1	0	0	0	1456	1116	39	1	1719	1	BMP1	8	22053004	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	46808	22053004	124311018	637	637											
BIN3	55909	broad.mit.edu	37	chr8	22488012	22488012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtccagggccgtcaccatGttcagaaggtcctggtcttg	13	11	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:22488012G>A	uc003xcl.2	-	5	337	c.240C>T	c.(238-240)AAC>AAT	p.N80N	BIN3_uc003xck.2_Silent_p.N32N|BIN3_uc010ltw.2_Silent_p.N26N	NM_018688	NP_061158	Q9NQY0	BIN3_HUMAN	bridging integrator 3	80	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity				0		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		CCGTCACCATGTTCAGAAGGT	0.542													A	22488012	G	A	22488012	2	1	1	1	0	0	0	0	0	0	0	1	1434	1368	48	4		4	BIN3	8	22488012	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	435008	22488012	123876010	638	638											
NEFL	4747	broad.mit.edu	37	chr8	24813503	24813503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacctcctcttcatagcgcGcctgcaggttgcgcagggtc	12	15	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:24813503G>A	uc003xee.2	-	1	629	c.527C>T	c.(526-528)GCG>GTG	p.A176V		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	176	Rod.|Coil 1B.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TTCATAGCGCGCCTGCAGGTT	0.716													A	24813503	G	A	24813503	3	1	1	1	0	0	0	0	1	0	0	0	10315	1087	38	1	1121	1	NEFL	8	24813503	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2325491	24813503	121550519	639	639											
SCARA3	51435	broad.mit.edu	37	chr8	27516873	27516873	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccacacccatgccgaggagCtctactacctgaacaagtct	7	15	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:27516873C>A	uc003xga.1	+	5	1327	c.1186C>A	c.(1186-1188)CTC>ATC	p.L396I	SCARA3_uc003xgb.1_Missense_Mutation_p.L396I	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	396	Extracellular (Potential).				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			skin(2)|ovary(1)|breast(1)	4		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		TGCCGAGGAGCTCTACTACCT	0.607													A	27516873	C	A	27516873	3	1	1	1	0	0	0	0	1	0	0	0	13879	797	28	5	1204	5	SCARA3	8	27516873	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2703370	27516873	118847149	640	640											
KIF13B	23303	broad.mit.edu	37	chr8	28974391	28974391	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agattctcttgcgtaacaccAgttgcatgtcagcagggtgg	12	9	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:28974391A>G	uc003xhh.3	-	31	3853	c.3794T>C	c.(3793-3795)CTG>CCG	p.L1265P	uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1265					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GCGTAACACCAGTTGCATGTC	0.592													G	28974391	A	G	28974391	3	3	1	1	0	0	0	0	1	0	0	0	8275	188	7	3	1726	3	KIF13B	8	28974391	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1457518	28974391	117389631	641	641											
WHSC1L1	54904	broad.mit.edu	37	chr8	38133958	38133958	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttctgttttgatctttcGtctcttctgttttaacttag	7	7	4	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:38133958G>A	uc003xli.2	-	23	4446	c.3928C>T	c.(3928-3930)CGA>TGA	p.R1310*	WHSC1L1_uc011lbm.1_Nonsense_Mutation_p.R1299*|WHSC1L1_uc010lwe.2_Nonsense_Mutation_p.R1261*|WHSC1L1_uc003xlh.2_Nonsense_Mutation_p.R89*	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	1310					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTGATCTTTCGTCTCTTCTGT	0.403			T	NUP98	AML								A	38133958	G	A	38133958	4	1	1	1	0	0	0	0	0	1	0	0	17360	1153	40	1	393	1	WHSC1L1	8	38133958	Nonsense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	9159567	38133958	108230064	642	642											
TM2D2	83877	broad.mit.edu	37	chr8	38851174	38851174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtcgctgtaggcctgaccGccgaactgtggaataacaac	11	12	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:38851174G>A	uc003xmk.2	-	3	404	c.321C>T	c.(319-321)GGC>GGT	p.G107G	TM2D2_uc003xml.2_Silent_p.G64G|TM2D2_uc003xmm.2_Silent_p.G64G|TM2D2_uc003xmn.2_Silent_p.G64G	NM_078473	NP_510882	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2 isoform a	107						integral to membrane					0		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			AGGCCTGACCGCCGAACTGTG	0.453													A	38851174	G	A	38851174	2	1	1	1	0	0	0	0	0	0	0	1	15961	1074	38	1		1	TM2D2	8	38851174	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	717216	38851174	107512848	643	643											
ANK1	286	broad.mit.edu	37	chr8	41530009	41530009	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcgtcatcctgcctcttAgaacctggcagcttctcttc	8	15	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:41530009A>G	uc003xok.2	-	38	5043	c.4959T>C	c.(4957-4959)TCT>TCC	p.S1653S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Silent_p.S1653S|ANK1_uc003xoj.2_Silent_p.S1653S|ANK1_uc003xol.2_Intron|ANK1_uc003xom.2_Silent_p.S1694S	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1653	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCTGCCTCTTAGAACCTGGCA	0.527													G	41530009	A	G	41530009	2	3	1	1	0	0	0	0	0	0	0	1	620	407	15	3		3	ANK1	8	41530009	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	2678835	41530009	104834013	644	644											
RNF170	81790	broad.mit.edu	37	chr8	42716936	42716936	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttataatcattaatatcctgAtgcaatctcagaacatcctg	4	9	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:42716936A>G	uc003xpo.2	-	6	936	c.459T>C	c.(457-459)CAT>CAC	p.H153H	RNF170_uc011lcx.1_Intron|RNF170_uc010lxp.2_Silent_p.H69H|RNF170_uc003xpm.2_Silent_p.H153H|RNF170_uc003xpp.2_Silent_p.H57H|RNF170_uc003xpn.2_Silent_p.H57H|RNF170_uc003xpq.3_Silent_p.H153H	NM_001160223	NP_001153695	Q96K19	RN170_HUMAN	ring finger protein 170 isoform a	153						integral to membrane	zinc ion binding				0	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TAATATCCTGATGCAATCTCA	0.353													G	42716936	A	G	42716936	2	3	1	1	0	0	0	0	0	0	0	1	13462	330	12	3		3	RNF170	8	42716936	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1186927	42716936	103647086	645	645											
HOOK3	84376	broad.mit.edu	37	chr8	42798549	42798549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttggaaggatgcttcagCtcatcttaggctgtgctgtg	13	8	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:42798549C>T	uc003xpr.2	+	5	603	c.361C>T	c.(361-363)CTC>TTC	p.L121F	HOOK3_uc010lxq.1_Missense_Mutation_p.L121F	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	121	Sufficient for interaction with microtubules.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GATGCTTCAGCTCATCTTAGG	0.378			T	RET	papillary thyroid								T	42798549	C	T	42798549	3	4	1	1	0	0	0	0	1	0	0	0	7284	797	28	2	379	2	HOOK3	8	42798549	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	81613	42798549	103565473	646	646											
PRKDC	5591	broad.mit.edu	37	chr8	48733488	48733488	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagcttgctgcggatcatgTaaggtagatatgtttcctaa	10	7	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:48733488T>C	uc003xqi.2	-	67	9185	c.9128A>G	c.(9127-9129)TAC>TGC	p.Y3043C	PRKDC_uc003xqj.2_Missense_Mutation_p.Y3043C|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3043	KIP-binding.|FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GCGGATCATGTAAGGTAGATA	0.413								NHEJ					C	48733488	T	C	48733488	3	2	1	1	0	0	0	0	1	0	0	0	12521	1638	57	3	3342	3	PRKDC	8	48733488	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	5934939	48733488	97630534	647	647											
SNTG1	54212	broad.mit.edu	37	chr8	51314811	51314811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggatggtaaccaggaGcctttcaaagtgcggctgca	13	10	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:51314811G>A	uc010lxy.1	+	5	440	c.69G>A	c.(67-69)GAG>GAA	p.E23E	SNTG1_uc003xqs.1_Silent_p.E23E|SNTG1_uc010lxz.1_Silent_p.E23E|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	23					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GTAACCAGGAGCCTTTCAAAG	0.383													A	51314811	G	A	51314811	2	1	1	1	0	0	0	0	0	0	0	1	14874	962	34	2		2	SNTG1	8	51314811	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2581323	51314811	95049211	648	648											
MOS	4342	broad.mit.edu	37	chr8	57025621	57025621	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggcgctgcccggggagCgagtcctcgaagacggcagc	16	14	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:57025621C>T	uc011leb.1	-	1	921	c.921G>A	c.(919-921)TCG>TCA	p.S307S		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	307	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCCCGGGGAGCGAGTCCTCGA	0.692													T	57025621	C	T	57025621	2	4	1	1	0	0	0	0	0	0	0	1	9712	755	27	1		1	MOS	8	57025621	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	5710810	57025621	89338401	649	649											
NSMAF	8439	broad.mit.edu	37	chr8	59548042	59548042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaccttgatgatgggctgGgatattgaatctggttcaaa	11	5	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:59548042G>A	uc003xtt.2	-	3	427	c.213C>T	c.(211-213)TCC>TCT	p.S71S	NSMAF_uc011lee.1_Silent_p.S102S|NSMAF_uc003xtu.2_Silent_p.S71S	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	71					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)				TGATGGGCTGGGATATTGAAT	0.313													A	59548042	G	A	59548042	2	1	1	1	0	0	0	0	0	0	0	1	10674	1219	43	4		4	NSMAF	8	59548042	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2522421	59548042	86815980	650	650											
C8orf45	157777	broad.mit.edu	37	chr8	67786678	67786678	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacctttaaaagctgctgAagtctttcaatcagtaagtc	6	10	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:67786678A>G	uc003xwz.3	+	3	383	c.212A>G	c.(211-213)GAA>GGA	p.E71G	C8orf45_uc003xwv.2_Missense_Mutation_p.E71G|C8orf45_uc011lev.1_Missense_Mutation_p.E71G|C8orf45_uc011lew.1_Intron|C8orf45_uc011lex.1_5'UTR|C8orf45_uc003xwy.3_Missense_Mutation_p.E71G	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	minichromosome maintenance complex	71					DNA replication		ATP binding|DNA binding			ovary(1)	1	Breast(64;0.186)		Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AAAGCTGCTGAAGTCTTTCAA	0.313													G	67786678	A	G	67786678	3	3	1	1	0	0	0	0	1	0	0	0	2430	246	9	3	218	3	C8orf45	8	67786678	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	8238636	67786678	78577344	651	651											
PREX2	80243	broad.mit.edu	37	chr8	68930142	68930142	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacaaaaatgtgacagaagAaacagtgaaggtgaggaggt	14	3	0	6			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:68930142A>G	uc003xxv.1	+	2	230	c.203A>G	c.(202-204)GAA>GGA	p.E68G	PREX2_uc003xxu.1_Missense_Mutation_p.E68G|PREX2_uc011lez.1_Intron	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	68	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GTGACAGAAGAAACAGTGAAG	0.418													G	68930142	A	G	68930142	3	3	1	1	0	0	0	0	1	0	0	0	12477	246	9	3	209	3	PREX2	8	68930142	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1143464	68930142	77433880	652	652											
SULF1	23213	broad.mit.edu	37	chr8	70536271	70536271	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaatctggaagaagaagaAgaattgcaagtgttgcaacc	10	5	1	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:70536271A>C	uc010lza.1	+	15	2406	c.1689A>C	c.(1687-1689)GAA>GAC	p.E563D	SULF1_uc003xyd.2_Missense_Mutation_p.E563D|SULF1_uc003xye.2_Missense_Mutation_p.E563D|SULF1_uc003xyf.2_Missense_Mutation_p.E563D|SULF1_uc003xyg.2_Missense_Mutation_p.E563D|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	563					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AAGAAGAAGAAGAATTGCAAG	0.463													C	70536271	A	C	70536271	3	2	1	1	0	0	0	0	1	0	0	0	15369	69	3	5	1731	5	SULF1	8	70536271	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1606129	70536271	75827751	653	653											
SLCO5A1	81796	broad.mit.edu	37	chr8	70585382	70585382	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgtattttatggagtaccAggccagaaaaataaaaataa	7	5	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:70585382A>C	uc003xyl.2	-	10	2976	c.2269T>G	c.(2269-2271)TGG>GGG	p.W757G	SLCO5A1_uc010lzb.2_Missense_Mutation_p.W702G|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	757	Helical; Name=12; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATGGAGTACCAGGCCAGAAAA	0.498													C	70585382	A	C	70585382	3	2	1	1	0	0	0	0	1	0	0	0	14731	188	7	5	281	5	SLCO5A1	8	70585382	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	49111	70585382	75778640	654	654											
PRDM14	63978	broad.mit.edu	37	chr8	70981746	70981746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccgcgtactcgtggctgCtgctcaggaagggcggcact	14	14	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:70981746C>T	uc003xym.2	-	2	552	c.350G>A	c.(349-351)AGC>AAC	p.S117N		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CTCGTGGCTGCTGCTCAGGAA	0.592													T	70981746	C	T	70981746	3	4	1	1	0	0	0	0	1	0	0	0	12455	797	28	2	1393	2	PRDM14	8	70981746	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	396364	70981746	75382276	655	655											
NCOA2	10499	broad.mit.edu	37	chr8	71039221	71039221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgatgcatttgtctctgtCgaagatgctggttcaggatt	12	7	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:71039221C>T	uc003xyn.1	-	19	3905	c.3743G>A	c.(3742-3744)CGA>CAA	p.R1248Q	NCOA2_uc011lfb.1_Missense_Mutation_p.R336Q	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1248					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TTGTCTCTGTCGAAGATGCTG	0.493			T	RUNXBP2	AML								T	71039221	C	T	71039221	3	4	1	1	0	0	0	0	1	0	0	0	10229	884	31	1	671	1	NCOA2	8	71039221	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	57475	71039221	75324801	656	656											
MSC	9242	broad.mit.edu	37	chr8	72755997	72755998	+	Frame_Shift_Ins	INS	-	-	G													gcttggagagcttagtgtcgINSgggggcacccagggcaggct							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:72755996_72755997C>CG	uc003xyx.1	-	0	735_736	c.417_418G>CG	c.(415-420)cccgacfs	p.P139fs	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_5'Flank|LOC100132891_uc003xyy.3_5'Flank	NM_005098	NP_005089	O60682	MUSC_HUMAN	Homo sapiens musculin (MSC), mRNA.	139	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			AGCTTAGTGTCGGGGGGCACCC	0.649											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	72755998	-	G	72755997	7	5	1	1	0	1	1	0	0	0	0	0	9868	1103	39	0	211	0	MSC	8	72755997	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	1716776	72755997	73608025	657	657											
ZFHX4	79776	broad.mit.edu	37	chr8	77763422	77763422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccagtatcatgcaattcGggctgcgacaatgtgtaacc	9	11	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:77763422G>A	uc003yav.2	+	10	4517	c.4130G>A	c.(4129-4131)CGG>CAG	p.R1377Q	ZFHX4_uc003yau.1_Missense_Mutation_p.R1422Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.R1377Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1377						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATGCAATTCGGGCTGCGACA	0.458										HNSCC(33;0.089)			A	77763422	G	A	77763422	3	1	1	1	0	0	0	0	1	0	0	0	17632	1116	39	1	4299	1	ZFHX4	8	77763422	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	5007425	77763422	68600600	658	658											
LRRCC1	85444	broad.mit.edu	37	chr8	86050680	86050680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggaaaagaaacttaaagCggaaagagacaaaagtattg	10	4	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:86050680C>T	uc003ycw.2	+	17	2964	c.2810C>T	c.(2809-2811)GCG>GTG	p.A937V	LRRCC1_uc003ycx.2_Missense_Mutation_p.A844V|LRRCC1_uc003ycy.2_Missense_Mutation_p.A917V	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	937					cell division|mitosis	centriole|nucleus					0						AAACTTAAAGCGGAAAGAGAC	0.333													T	86050680	C	T	86050680	3	4	1	1	0	0	0	0	1	0	0	0	9026	768	27	1	2876	1	LRRCC1	8	86050680	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	8287258	86050680	60313342	659	659											
SLC7A13	157724	broad.mit.edu	37	chr8	87229784	87229784	+	Frame_Shift_Del	DEL	A	A	-													tagaccataatgaacccgtgAaaaaaatatagtttatcaaa							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:87229783_87229783GA>G	uc003ydq.1	-	2	1193	c.1095_1095TC>C	c.(1093-1095)ttcfs	p.F365fs	SLC7A13_uc003ydr.1_Frame_Shift_Del_p.F356fs	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	365						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATGAACCCGTGAAAAAAATAT	0.338													-	87229784	A	-	87229784	7	5	1	1	0	1	0	1	0	0	0	0	14695	246	9	0	326	0	SLC7A13	8	87229784	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	1179104	87229784	59134238	660	660											
OSGIN2	734	broad.mit.edu	37	chr8	90937188	90937188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcttactgccgctgacGcagtactgtgtgcttacaac	11	12	0	1	rs141987995	by1000genomes	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:90937188G>A	uc003yeg.2	+	6	1292	c.946G>A	c.(946-948)GCA>ACA	p.A316T	OSGIN2_uc003yeh.2_Missense_Mutation_p.A360T	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family	316					germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGCCGCTGACGCAGTACTGTG	0.428													A	90937188	G	A	90937188	3	1	1	1	0	0	0	0	1	0	0	0	11290	1087	38	1	1100	1	OSGIN2	8	90937188	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	3707404	90937188	55426834	661	661											
RUNX1T1	862	broad.mit.edu	37	chr8	93029468	93029468	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttacacgttgtcggtgtaAatgaactggttcttggagct	11	7	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:93029468A>G	uc003yfd.2	-	2	296	c.212T>C	c.(211-213)TTT>TCT	p.F71S	RUNX1T1_uc003yfc.1_Missense_Mutation_p.F44S|RUNX1T1_uc003yfe.1_Missense_Mutation_p.F34S|RUNX1T1_uc010mao.2_Missense_Mutation_p.F44S|RUNX1T1_uc011lgi.1_Missense_Mutation_p.F82S|RUNX1T1_uc003yfh.1_Missense_Mutation_p.F34S|RUNX1T1_uc003yfb.1_Missense_Mutation_p.F34S|RUNX1T1_uc003yff.1_Missense_Mutation_p.F34S|RUNX1T1_uc003yfg.1_Missense_Mutation_p.F34S	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	71					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)			TGTCGGTGTAAATGAACTGGT	0.398													G	93029468	A	G	93029468	3	3	1	1	0	0	0	0	1	0	0	0	13747	14	1	3	1642	3	RUNX1T1	8	93029468	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	2092280	93029468	53334554	662	662											
POP1	10940	broad.mit.edu	37	chr8	99168468	99168468	+	Frame_Shift_Del	DEL	A	A	-													tgccttgtgctcccatgcctAaaaaaactcatcagccatct							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:99168467_99168467TA>T	uc003yij.4	+	14	2347	c.2247_2247TA>T	c.(2245-2247)cctfs	p.P749fs	POP1_uc011lgv.2_Frame_Shift_Del_p.P749fs|POP1_uc003yik.3_Frame_Shift_Del_p.P749fs	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	749					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CTCCCATGCCTAAAAAAACTC	0.507													-	99168468	A	-	99168468	7	5	1	1	0	1	0	1	0	0	0	0	12251	363	13	0	2302	0	POP1	8	99168468	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	6139000	99168468	47195554	663	663											
KCNS2	3788	broad.mit.edu	37	chr8	99440939	99440939	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcacatttgagctggtggcCaggtttgctgtggcccctga	13	10	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:99440939C>A	uc003yin.2	+	2	1082	c.732C>A	c.(730-732)GCC>GCA	p.A244A		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	244	Helical; Name=Segment S2; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			AGCTGGTGGCCAGGTTTGCTG	0.517													A	99440939	C	A	99440939	2	1	1	1	0	0	0	0	0	0	0	1	8089	581	21	5		5	KCNS2	8	99440939	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	272471	99440939	46923083	664	664											
VPS13B	157680	broad.mit.edu	37	chr8	100520072	100520072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgacaagctgaacagacGcaccttgttggttcgaccca	9	12	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:100520072G>A	uc003yiv.2	+	28	4343	c.4232G>A	c.(4231-4233)CGC>CAC	p.R1411H	VPS13B_uc003yiw.2_Intron|VPS13B_uc003yiu.1_3'UTR|VPS13B_uc003yix.1_Missense_Mutation_p.R881H	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1411					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGAACAGACGCACCTTGTTG	0.458													A	100520072	G	A	100520072	3	1	1	1	0	0	0	0	1	0	0	0	17187	1087	38	1	4532	1	VPS13B	8	100520072	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1079133	100520072	45843950	665	665											
VPS13B	157680	broad.mit.edu	37	chr8	100847902	100847902	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcctacttttgagagttgAacctctagatgaagtaacaa	8	7	1	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:100847902A>G	uc003yiv.2	+	54	10064	c.9953A>G	c.(9952-9954)GAA>GGA	p.E3318G	VPS13B_uc003yiw.2_Missense_Mutation_p.E3293G	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3318					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGAGAGTTGAACCTCTAGAT	0.463													G	100847902	A	G	100847902	3	3	1	1	0	0	0	0	1	0	0	0	17187	246	9	3	10357	3	VPS13B	8	100847902	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	327830	100847902	45516120	666	666											
RGS22	26166	broad.mit.edu	37	chr8	101075932	101075932	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catgaatagactcaaaacaaTcatcaaatgacacttttgtt	4	8	3	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:101075932T>A	uc003yjb.1	-	8	1259	c.1064A>T	c.(1063-1065)GAT>GTT	p.D355V	RGS22_uc003yja.1_Missense_Mutation_p.D174V|RGS22_uc003yjc.1_Missense_Mutation_p.D343V|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	355					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTCAAAACAATCATCAAATGA	0.323													A	101075932	T	A	101075932	3	1	1	1	0	0	0	0	1	0	0	0	13305	1435	50	5	2810	5	RGS22	8	101075932	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	228030	101075932	45288090	667	667											
RGS22	26166	broad.mit.edu	37	chr8	101078439	101078439	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttaagtttgttgtagggtAcacaacagggtaacgaaaag	11	4	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:101078439A>G	uc003yjb.1	-	7	875	c.680T>C	c.(679-681)GTA>GCA	p.V227A	RGS22_uc003yja.1_Missense_Mutation_p.V46A|RGS22_uc003yjc.1_Missense_Mutation_p.V215A|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	227					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GTTGTAGGGTACACAACAGGG	0.368													G	101078439	A	G	101078439	3	3	1	1	0	0	0	0	1	0	0	0	13305	391	14	3	3198	3	RGS22	8	101078439	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	2507	101078439	45285583	668	668											
SPAG1	6674	broad.mit.edu	37	chr8	101253220	101253220	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattttactttagaagatatAcaggccctaaaaaggcagta	7	7	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:101253220A>G	uc003yjh.1	+	19	2837	c.2751A>G	c.(2749-2751)ATA>ATG	p.I917M	SPAG1_uc003yji.1_Missense_Mutation_p.I917M	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	917					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)		TAGAAGATATACAGGCCCTAA	0.368													G	101253220	A	G	101253220	3	3	1	1	0	0	0	0	1	0	0	0	14975	381	14	3	2821	3	SPAG1	8	101253220	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	174781	101253220	45110802	669	669											
UBR5	51366	broad.mit.edu	37	chr8	103287986	103287986	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaataccctgccgaacagttCtaaagaaaggcgccaacgtc	9	12	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:103287986C>T	uc003ykr.1	-	46	6613	c.6580G>A	c.(6580-6582)GAA>AAA	p.E2194K	UBR5_uc003yks.1_Missense_Mutation_p.E2194K	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	2194					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCGAACAGTTCTAAAGAAAGG	0.448													T	103287986	C	T	103287986	3	4	1	1	0	0	0	0	1	0	0	0	16902	922	32	4	1875	4	UBR5	8	103287986	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2034766	103287986	43076036	670	670											
FZD6	8323	broad.mit.edu	37	chr8	104343682	104343682	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccacatctctgcttgttcAcccggtttcaggagtgagaa	9	11	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:104343682A>G	uc003ylh.2	+	7	2350	c.2066A>G	c.(2065-2067)CAC>CGC	p.H689R	FZD6_uc003ylj.2_Missense_Mutation_p.H689R|FZD6_uc011lhn.1_Missense_Mutation_p.H655R|FZD6_uc011lho.1_Missense_Mutation_p.H384R|FZD6_uc011lhp.1_Missense_Mutation_p.H634R	NM_003506	NP_003497	O60353	FZD6_HUMAN	frizzled 6 isoform a precursor	689	Cytoplasmic (Potential).				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			CTGCTTGTTCACCCGGTTTCA	0.458													G	104343682	A	G	104343682	3	3	1	1	0	0	0	0	1	0	0	0	6134	159	6	3	2088	3	FZD6	8	104343682	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1055696	104343682	42020340	671	671											
ABRA	137735	broad.mit.edu	37	chr8	107781945	107781945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggcacattttctcctccgCgttggggagccgtggctgtg	14	11	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:107781945C>T	uc003ymm.3	-	1	528	c.474G>A	c.(472-474)ACG>ACA	p.T158T		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	158					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTCTCCTCCGCGTTGGGGAGC	0.582													T	107781945	C	T	107781945	2	4	1	1	0	0	0	0	0	0	0	1	100	755	27	1		1	ABRA	8	107781945	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3438263	107781945	38582077	672	672											
SYBU	55638	broad.mit.edu	37	chr8	110590145	110590145	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcagcttggttttgaggtgtCtcactgtcacctctttctgc	9	11	5	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:110590145C>A	uc003ynj.3	-	6	999	c.836G>T	c.(835-837)AGA>ATA	p.R279I	SYBU_uc003yni.3_Missense_Mutation_p.R276I|SYBU_uc003ynk.3_Missense_Mutation_p.R160I|SYBU_uc010mco.2_Missense_Mutation_p.R278I|SYBU_uc003ynl.3_Missense_Mutation_p.R278I|SYBU_uc010mcp.2_Missense_Mutation_p.R279I|SYBU_uc010mcq.2_Missense_Mutation_p.R279I|SYBU_uc003yno.3_Missense_Mutation_p.R160I|SYBU_uc010mcr.2_Missense_Mutation_p.R279I|SYBU_uc003ynm.3_Missense_Mutation_p.R278I|SYBU_uc003ynn.3_Missense_Mutation_p.R278I|SYBU_uc010mcs.2_Missense_Mutation_p.R160I|SYBU_uc010mct.2_Missense_Mutation_p.R279I|SYBU_uc010mcu.2_Missense_Mutation_p.R278I|SYBU_uc003ynp.3_Missense_Mutation_p.R211I|SYBU_uc010mcv.2_Missense_Mutation_p.R279I|SYBU_uc003ynh.3_Missense_Mutation_p.R73I|SYBU_uc011lhw.1_Missense_Mutation_p.R149I	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	279	Potential.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						TTTGAGGTGTCTCACTGTCAC	0.498													A	110590145	C	A	110590145	3	1	1	1	0	0	0	0	1	0	0	0	15424	913	32	5	1163	5	SYBU	8	110590145	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2808200	110590145	35773877	673	673											
CSMD3	114788	broad.mit.edu	37	chr8	113243835	113243835	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaatccttgaaatacataAgtagctccatcaggctcagc	6	10	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:113243835A>C	uc003ynu.2	-	69	10926	c.10767T>G	c.(10765-10767)ACT>ACG	p.T3589T	CSMD3_uc003yns.2_Silent_p.T2791T|CSMD3_uc003ynt.2_Silent_p.T3549T|CSMD3_uc011lhx.1_Silent_p.T3420T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3589	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GAAATACATAAGTAGCTCCAT	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113243835	A	C	113243835	2	2	1	1	0	0	0	0	0	0	0	1	3946	59	3	5		5	CSMD3	8	113243835	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	2653690	113243835	33120187	674	674											
TRPS1	7227	broad.mit.edu	37	chr8	116426263	116426263	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaaggttttactctttaggTtttccatttttttccacttg	5	8	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:116426263T>C	uc003ynz.2	-	6	4293	c.3834A>G	c.(3832-3834)AAA>AAG	p.K1278K	TRPS1_uc011lhy.1_Silent_p.K1282K|TRPS1_uc003yny.2_Silent_p.K1291K|TRPS1_uc010mcy.2_Silent_p.K1278K	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1278	Transcriptional repressor domain (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ACTCTTTAGGTTTTCCATTTT	0.368									Langer-Giedion_syndrome				C	116426263	T	C	116426263	2	2	1	1	0	0	0	0	0	0	0	1	16590	1722	60	3		3	TRPS1	8	116426263	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	3182428	116426263	29937759	675	675											
TRPS1	7227	broad.mit.edu	37	chr8	116426653	116426653	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaaaatgaggaggcagAttgaaggtgggataaggcac	16	4	0	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:116426653A>G	uc003ynz.2	-	6	3903	c.3444T>C	c.(3442-3444)AAT>AAC	p.N1148N	TRPS1_uc011lhy.1_Silent_p.N1152N|TRPS1_uc003yny.2_Silent_p.N1161N|TRPS1_uc010mcy.2_Silent_p.N1148N	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1148	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAGGAGGCAGATTGAAGGTGG	0.488									Langer-Giedion_syndrome				G	116426653	A	G	116426653	2	3	1	1	0	0	0	0	0	0	0	1	16590	330	12	3		3	TRPS1	8	116426653	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	390	116426653	29937369	676	676											
TRPS1	7227	broad.mit.edu	37	chr8	116616779	116616779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcctgactgcactgctcCgtgctgcttgccataatgtt	10	14	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:116616779C>T	uc003ynz.2	-	3	1837	c.1378G>A	c.(1378-1380)GGA>AGA	p.G460R	TRPS1_uc011lhy.1_Missense_Mutation_p.G464R|TRPS1_uc003yny.2_Missense_Mutation_p.G473R|TRPS1_uc010mcy.2_Missense_Mutation_p.G460R	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	460					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGCACTGCTCCGTGCTGCTTG	0.443									Langer-Giedion_syndrome				T	116616779	C	T	116616779	3	4	1	1	0	0	0	0	1	0	0	0	16590	661	23	1	2483	1	TRPS1	8	116616779	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	190126	116616779	29747243	677	677											
RAD21	5885	broad.mit.edu	37	chr8	117868492	117868492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggttggcattggttcaaCgggatccactgaatcaggac	12	9	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:117868492C>T	uc003yod.2	-	8	1138	c.850G>A	c.(850-852)GTT>ATT	p.V284I		NM_006265	NP_006256	O60216	RAD21_HUMAN	RAD21 homolog	284					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			lung(1)|skin(1)	2	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					ATTGGTTCAACGGGATCCACT	0.363													T	117868492	C	T	117868492	3	4	1	1	0	0	0	0	1	0	0	0	12981	536	19	1	1073	1	RAD21	8	117868492	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1251713	117868492	28495530	678	678											
TAF2	6873	broad.mit.edu	37	chr8	120744180	120744180	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttctcagtctgaaagggaaGgagaacgaatagacctgcca	11	9	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:120744180G>T	uc003you.2	-	26	3854	c.3584C>A	c.(3583-3585)CCT>CAT	p.P1195H		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	1195					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGAAAGGGAAGGAGAACGAAT	0.418													T	120744180	G	T	120744180	3	4	1	1	0	0	0	0	1	0	0	0	15521	1000	35	5	19	5	TAF2	8	120744180	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2875688	120744180	25619842	679	679											
ATAD2	29028	broad.mit.edu	37	chr8	124358423	124358423	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttccaaagcatgaatgacaGctggtgccaagtgagaacct	10	9	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:124358423G>T	uc003yqh.3	-	18	2543	c.2435C>A	c.(2434-2436)GCT>GAT	p.A812D	ATAD2_uc011lii.1_Missense_Mutation_p.A603D|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.A812D	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	812					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ATGAATGACAGCTGGTGCCAA	0.398													T	124358423	G	T	124358423	3	4	1	1	0	0	0	0	1	0	0	0	1071	971	34	5	1781	5	ATAD2	8	124358423	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	3614243	124358423	22005599	680	680											
KIAA0196	9897	broad.mit.edu	37	chr8	126044600	126044600	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccaggacaagtggtggcCaatcaaccgggtcggtcggt	15	11	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:126044600C>T	uc003yrt.2	-	27	3547	c.3218G>A	c.(3217-3219)TGG>TAG	p.W1073*	KIAA0196_uc011lir.1_Nonsense_Mutation_p.W925*|KIAA0196_uc003yru.1_Intron	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	1073					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AAGTGGTGGCCAATCAACCGG	0.522													T	126044600	C	T	126044600	4	4	1	1	0	0	0	0	0	1	0	0	8161	595	21	4	273	4	KIAA0196	8	126044600	Nonsense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1686177	126044600	20319422	681	681											
ZFAT	57623	broad.mit.edu	37	chr8	135614707	135614707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccagcatatggcggtcacGgtccagctcgttcttgaact	11	12	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:135614707G>A	uc003yup.2	-	6	1430	c.1255C>T	c.(1255-1257)CGT>TGT	p.R419C	ZFAT_uc003yun.2_Missense_Mutation_p.R407C|ZFAT_uc003yuo.2_Missense_Mutation_p.R407C|ZFAT_uc010meh.2_Missense_Mutation_p.R407C|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.R407C|ZFAT_uc010mej.2_Missense_Mutation_p.R357C|ZFAT_uc003yur.2_Missense_Mutation_p.R407C	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	419	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGGCGGTCACGGTCCAGCTCG	0.597													A	135614707	G	A	135614707	3	1	1	1	0	0	0	0	1	0	0	0	17629	1116	39	1	2520	1	ZFAT	8	135614707	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	9570107	135614707	10749315	682	682											
FAM135B	51059	broad.mit.edu	37	chr8	139164159	139164159	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtccttgagcatcaaactgCttccctttccctttggggat	8	12	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:139164159C>A	uc003yuy.2	-	13	2730	c.2559G>T	c.(2557-2559)AAG>AAT	p.K853N	FAM135B_uc003yux.2_Missense_Mutation_p.K754N|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.K415N|FAM135B_uc003yvb.2_Missense_Mutation_p.K415N	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	853										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CATCAAACTGCTTCCCTTTCC	0.488										HNSCC(54;0.14)			A	139164159	C	A	139164159	3	1	1	1	0	0	0	0	1	0	0	0	5449	796	28	5	1693	5	FAM135B	8	139164159	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3549452	139164159	7199863	683	683											
FAM135B	51059	broad.mit.edu	37	chr8	139255234	139255234	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaagaccaagttttccAgagaaatgatagactgttct	7	9	1	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:139255234A>C	uc003yuy.2	-	7	791	c.620T>G	c.(619-621)CTG>CGG	p.L207R	FAM135B_uc003yux.2_Missense_Mutation_p.L108R|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	207										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAAGTTTTCCAGAGAAATGAT	0.463										HNSCC(54;0.14)			C	139255234	A	C	139255234	3	2	1	1	0	0	0	0	1	0	0	0	5449	188	7	5	3656	5	FAM135B	8	139255234	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	91075	139255234	7108788	684	684											
COL22A1	169044	broad.mit.edu	37	chr8	139691881	139691881	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaacacattgccctcccagTgcacagttttctgaccctct	5	15	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:139691881T>C	uc003yvd.2	-	40	3498	c.3051A>G	c.(3049-3051)GCA>GCG	p.A1017A	COL22A1_uc011ljo.1_Intron	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1017	Pro-rich.|Gly-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCCTCCCAGTGCACAGTTTT	0.343										HNSCC(7;0.00092)			C	139691881	T	C	139691881	2	2	1	1	0	0	0	0	0	0	0	1	3681	1683	59	3		3	COL22A1	8	139691881	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	436647	139691881	6672141	685	685											
KCNK9	51305	broad.mit.edu	37	chr8	140630896	140630896	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttcatggtcaagaacctgaGgacgaccaggttgaggaagg	15	7	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:140630896G>T	uc003yvf.1	-	2	794	c.730C>A	c.(730-732)CTC>ATC	p.L244I	KCNK9_uc003yvg.1_Missense_Mutation_p.L244I|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	244	Cytoplasmic (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			AAGAACCTGAGGACGACCAGG	0.572													T	140630896	G	T	140630896	3	4	1	1	0	0	0	0	1	0	0	0	8072	1000	35	5	398	5	KCNK9	8	140630896	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	939015	140630896	5733126	686	686											
PTK2	5747	broad.mit.edu	37	chr8	141712786	141712786	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccatggctgtgattccatgTgaaccagggtagccagaaac	12	10	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:141712786T>C	uc003yvu.2	-	25	2480	c.2250A>G	c.(2248-2250)TCA>TCG	p.S750S	PTK2_uc011ljp.1_Silent_p.S58S|PTK2_uc003yvo.2_Silent_p.S378S|PTK2_uc011ljq.1_Silent_p.S445S|PTK2_uc003yvp.2_Silent_p.S418S|PTK2_uc003yvq.2_Silent_p.S276S|PTK2_uc003yvr.2_Silent_p.S690S|PTK2_uc003yvs.2_Intron|PTK2_uc003yvt.2_Silent_p.S772S|PTK2_uc003yvv.2_Silent_p.S650S|PTK2_uc011ljr.1_Silent_p.S750S	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	750	Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGATTCCATGTGAACCAGGGT	0.443													C	141712786	T	C	141712786	2	2	1	1	0	0	0	0	0	0	0	1	12762	1683	59	3		3	PTK2	8	141712786	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1081890	141712786	4651236	687	687											
PTK2	5747	broad.mit.edu	37	chr8	141828420	141828420	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgattccttcttctgggcCgattgccagttccactgaaa	8	12	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:141828420C>A	uc003yvu.2	-	10	1053	c.823G>T	c.(823-825)GGC>TGC	p.G275C	PTK2_uc003yvq.2_5'UTR|PTK2_uc003yvr.2_Missense_Mutation_p.G174C|PTK2_uc003yvs.2_Missense_Mutation_p.G275C|PTK2_uc003yvt.2_Missense_Mutation_p.G297C|PTK2_uc003yvv.2_Missense_Mutation_p.G162C|PTK2_uc011ljr.1_Missense_Mutation_p.G275C	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	275	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TCTTCTGGGCCGATTGCCAGT	0.418													A	141828420	C	A	141828420	3	1	1	1	0	0	0	0	1	0	0	0	12762	652	23	5	2427	5	PTK2	8	141828420	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	115634	141828420	4535602	688	688											
TOP1MT	116447	broad.mit.edu	37	chr8	144406219	144406219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtctcgtcttcatttcccGagacttccagtcagcccggt	8	15	4	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:144406219G>A	uc003yxz.2	-	7	929	c.910C>T	c.(910-912)CGG>TGG	p.R304W	TOP1MT_uc011lkd.1_Missense_Mutation_p.R206W|TOP1MT_uc011lke.1_Missense_Mutation_p.R206W|TOP1MT_uc010mfb.2_Missense_Mutation_p.R206W|TOP1MT_uc011lkf.1_Missense_Mutation_p.R99W|TOP1MT_uc010mfd.1_Missense_Mutation_p.R99W	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	304					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TTCATTTCCCGAGACTTCCAG	0.582													A	144406219	G	A	144406219	3	1	1	1	0	0	0	0	1	0	0	0	16361	1057	37	1	927	1	TOP1MT	8	144406219	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2577799	144406219	1957803	689	689											
ZC3H3	23144	broad.mit.edu	37	chr8	144590009	144590009	+	Missense_Mutation	SNP	C	C	T													ccggcgtcttcttgacaatgCggtagcgggtcttgatcacc							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:144590009C>T	uc003yyd.2	-	4	1651	c.1622G>A	c.(1621-1623)CGC>CAC	p.R541H		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	541					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CTTGACAATGCGGTAGCGGGT	0.647													T	144590009	C	T	144590009	3	4	1	1	0	0	0	0	1	0	0	0	17566	768	27	1	1260	1	ZC3H3	8	144590009	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	183790	144590009	1774013	690	690	1	2									
ZC3H3	23144	broad.mit.edu	37	chr8	144590012	144590012	+	Missense_Mutation	SNP	T	T	C													gcgtcttcttgacaatgcggTagcgggtcttgatcaccttg							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:144590012T>C	uc003yyd.2	-	4	1648	c.1619A>G	c.(1618-1620)TAC>TGC	p.Y540C		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	540					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GACAATGCGGTAGCGGGTCTT	0.657													C	144590012	T	C	144590012	3	2	1	1	0	0	0	0	1	0	0	0	17566	1638	57	3	1263	3	ZC3H3	8	144590012	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	3	144590012	1774010	691	691	1	2									
RECQL4	9401	broad.mit.edu	37	chr8	145740422	145740422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtagcacagggacttgccGgcacctgtaggcagcaccag	14	12	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:145740422G>A	uc003zdj.2	-	9	1550	c.1518C>T	c.(1516-1518)GCC>GCT	p.A506A	LRRC14_uc003zdk.1_5'Flank|LRRC14_uc003zdl.1_5'Flank	NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	506	Helicase ATP-binding.|ATP (Potential).				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGGACTTGCCGGCACCTGTAG	0.667			N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome				A	145740422	G	A	145740422	2	1	1	1	0	0	0	0	0	0	0	1	13202	1103	39	1		1	RECQL4	8	145740422	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1150410	145740422	623600	692	692											
PTPRD	5789	broad.mit.edu	37	chr9	8465638	8465638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcaacttctctcccataaCggatgcttctgcgcttccta	5	14	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:8465638C>T	uc003zkk.2	-	31	4253	c.3542G>A	c.(3541-3543)CGT>CAT	p.R1181H	PTPRD_uc003zkp.2_Missense_Mutation_p.R770H|PTPRD_uc003zkq.2_Missense_Mutation_p.R770H|PTPRD_uc003zkr.2_Missense_Mutation_p.R765H|PTPRD_uc003zks.2_Missense_Mutation_p.R760H|PTPRD_uc003zkl.2_Missense_Mutation_p.R1172H|PTPRD_uc003zkm.2_Missense_Mutation_p.R1168H|PTPRD_uc003zkn.2_Missense_Mutation_p.R770H|PTPRD_uc003zko.2_Missense_Mutation_p.R767H	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1181	Extracellular (Potential).	Cleavage (Probable).		R->A: No reduction in cleavage. 10-fold reduction in cleavage; when associated with A-1178.	transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCTCCCATAACGGATGCTTCT	0.403										TSP Lung(15;0.13)			T	8465638	C	T	8465638	3	4	1	1	0	0	0	0	1	0	0	0	12799	536	19	1	2321	1	PTPRD	9	8465638	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08		8465638	132747793	693	693											
PTPRD	5789	broad.mit.edu	37	chr9	8485893	8485893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtgtcatagtggtgtcaGctggaacaataagctgctcc	12	8	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:8485893G>A	uc003zkk.2	-	27	3635	c.2924C>T	c.(2923-2925)GCT>GTT	p.A975V	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.A966V|PTPRD_uc003zkm.2_Missense_Mutation_p.A962V|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	975	Fibronectin type-III 7.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTGGTGTCAGCTGGAACAAT	0.478										TSP Lung(15;0.13)			A	8485893	G	A	8485893	3	1	1	1	0	0	0	0	1	0	0	0	12799	971	34	2	2958	2	PTPRD	9	8485893	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	20255	8485893	132727538	694	694											
PTPRD	5789	broad.mit.edu	37	chr9	8525005	8525005	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actcatattttccttggtcaGactcttcactctgctcaatc	4	13	6	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:8525005G>A	uc003zkk.2	-	17	1310	c.599C>T	c.(598-600)TCT>TTT	p.S200F	PTPRD_uc003zkp.2_Missense_Mutation_p.S200F|PTPRD_uc003zkq.2_Missense_Mutation_p.S200F|PTPRD_uc003zkr.2_Missense_Mutation_p.S194F|PTPRD_uc003zks.2_Missense_Mutation_p.S194F|PTPRD_uc003zkl.2_Missense_Mutation_p.S200F|PTPRD_uc003zkm.2_Missense_Mutation_p.S191F|PTPRD_uc003zkn.2_Missense_Mutation_p.S200F|PTPRD_uc003zko.2_Missense_Mutation_p.S197F	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	200	Extracellular (Potential).|Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCCTTGGTCAGACTCTTCACT	0.338										TSP Lung(15;0.13)			A	8525005	G	A	8525005	3	1	1	1	0	0	0	0	1	0	0	0	12799	942	33	4	5323	4	PTPRD	9	8525005	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	39112	8525005	132688426	695	695											
MPDZ	8777	broad.mit.edu	37	chr9	13107093	13107093	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccccttttcagacgtccGtcttcagaggctgctccctg	9	16	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:13107093G>A	uc010mhy.2	-	45	6048	c.5997C>T	c.(5995-5997)GAC>GAT	p.D1999D	MPDZ_uc003zkx.3_Silent_p.D223D|MPDZ_uc003zky.3_Silent_p.D562D|MPDZ_uc010mib.2_Silent_p.D733D|MPDZ_uc010mhx.2_Silent_p.D850D|MPDZ_uc011lmm.1_Silent_p.D887D|MPDZ_uc003zkz.3_Silent_p.D721D|MPDZ_uc010mhz.2_Silent_p.D1995D|MPDZ_uc011lmn.1_Silent_p.D1966D|MPDZ_uc003zlb.3_Silent_p.D1999D	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2028	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		TCAGACGTCCGTCTTCAGAGG	0.438													A	13107093	G	A	13107093	2	1	1	1	0	0	0	0	0	0	0	1	9722	1136	40	1		1	MPDZ	9	13107093	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	4582088	13107093	128106338	696	696											
MLLT3	4300	broad.mit.edu	37	chr9	20346569	20346569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttcttctataaggttcaCgatctagaggagtgaagaag	11	5	4	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:20346569C>T	uc003zoe.2	-	11	1838	c.1579G>A	c.(1579-1581)GTG>ATG	p.V527M	MLLT3_uc011lne.1_Missense_Mutation_p.V495M|MLLT3_uc011lnf.1_Missense_Mutation_p.V524M	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		ATAAGGTTCACGATCTAGAGG	0.408			T	MLL	ALL								T	20346569	C	T	20346569	3	4	1	1	0	0	0	0	1	0	0	0	9628	536	19	1	131	1	MLLT3	9	20346569	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	7239476	20346569	120866862	697	697											
IFNA16	3449	broad.mit.edu	37	chr9	21216926	21216926	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaatctcttccaccccaaCctcctgtgtcacacaggctt	6	17	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:21216926C>A	uc003zor.1	-	1	385	c.379G>T	c.(379-381)GTT>TTT	p.V127F	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	interferon, alpha 16 precursor	127					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			skin(1)	1				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TCCACCCCAACCTCCTGTGTC	0.448													A	21216926	C	A	21216926	3	1	1	1	0	0	0	0	1	0	0	0	7535	507	18	5	194	5	IFNA16	9	21216926	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	870357	21216926	119996505	698	698											
TEK	7010	broad.mit.edu	37	chr9	27157925	27157925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcattgcctctgggtggcGcccccatgagcccatcacca	10	17	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:27157925G>A	uc003zqi.3	+	2	591	c.149G>A	c.(148-150)CGC>CAC	p.R50H	TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Missense_Mutation_p.R50H|TEK_uc011lno.1_Missense_Mutation_p.R50H|TEK_uc011lnp.1_Intron|TEK_uc003zqj.1_Missense_Mutation_p.R27H	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	50	Extracellular (Potential).|Ig-like C2-type 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCTGGGTGGCGCCCCCATGAG	0.502													A	27157925	G	A	27157925	3	1	1	1	0	0	0	0	1	0	0	0	15748	1087	38	1	155	1	TEK	9	27157925	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	5940999	27157925	114055506	699	699											
LINGO2	158038	broad.mit.edu	37	chr9	27950565	27950565	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaacagatttgttctgggcAgagcactcacagcgagcggg	13	10	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:27950565A>G	uc003zqu.1	-	2	299	c.105T>C	c.(103-105)TCT>TCC	p.S35S	LINGO2_uc010mjf.1_Silent_p.S35S|LINGO2_uc003zqv.1_Silent_p.S35S	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	35	LRRNT.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGTTCTGGGCAGAGCACTCAC	0.527													G	27950565	A	G	27950565	2	3	1	1	0	0	0	0	0	0	0	1	8815	175	7	3		3	LINGO2	9	27950565	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	792640	27950565	113262866	700	700											
ACO1	48	broad.mit.edu	37	chr9	32431807	32431807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcgtcagtatgtcatccCggggatgtttaaggaagtct	14	7	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:32431807C>T	uc003zqw.3	+	15	1972	c.1817C>T	c.(1816-1818)CCG>CTG	p.P606L	ACO1_uc010mjh.1_Missense_Mutation_p.P440L|ACO1_uc003zqx.3_Missense_Mutation_p.P606L|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	606					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TATGTCATCCCGGGGATGTTT	0.517											OREG0019130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	32431807	C	T	32431807	3	4	1	1	0	0	0	0	1	0	0	0	146	652	23	1	1871	1	ACO1	9	32431807	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	4481242	32431807	108781624	701	701											
UNC13B	10497	broad.mit.edu	37	chr9	35396839	35396839	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgctgtggctgcaggTggtttgagcagttcgtgcta	14	9	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:35396839T>C	uc003zwq.2	+	27	3482	c.3190T>C	c.(3190-3192)TGG>CGG	p.W1064R	UNC13B_uc003zwr.2_Missense_Mutation_p.W1064R	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	1064	MHD1.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGGCTGCAGGTGGTTTGAGCA	0.562													C	35396839	T	C	35396839	3	2	1	1	0	0	0	0	1	0	0	0	16982	1710	59	3	3296	3	UNC13B	9	35396839	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	2965032	35396839	105816592	702	702											
RUSC2	9853	broad.mit.edu	37	chr9	35547974	35547974	+	Frame_Shift_Del	DEL	C	C	-													aagtatacacgaatacttcaCcccccaacctcagcactgga							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:35547973_35547973AC>A	uc003zww.3	+	1	1710	c.1455_1455AC>A	c.(1453-1455)tcafs	p.S485fs	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Frame_Shift_Del_p.S485fs	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	485						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CGAATACTTCACCCCCCAACC	0.597													-	35547974	C	-	35547974	7	5	1	1	0	1	0	1	0	0	0	0	13751	507	18	0	1458	0	RUSC2	9	35547974	Frame_Shift_Del	DEL	C	TCGA-B7-5816-01A-21D-1600-08	151135	35547974	105665457	703	703											
NPR2	4882	broad.mit.edu	37	chr9	35800819	35800819	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtgcctttgacttggaCgacccatcctgtgataaaag	9	12	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:35800819C>T	uc003zyd.2	+	6	1332	c.1332C>T	c.(1330-1332)GAC>GAT	p.D444D	NPR2_uc010mlb.2_Silent_p.D444D	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	444	Extracellular (Potential).				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			ovary(2)|stomach(1)	3	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TTGACTTGGACGACCCATCCT	0.587													T	35800819	C	T	35800819	2	4	1	1	0	0	0	0	0	0	0	1	10595	535	19	1		1	NPR2	9	35800819	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	252845	35800819	105412612	704	704											
CCIN	881	broad.mit.edu	37	chr9	36169823	36169823	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggagctgcttcgtggggcTcagtatttcaacacaccacg	12	11	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:36169823T>G	uc003zzb.3	+	1	435	c.324T>G	c.(322-324)GCT>GCG	p.A108A		NM_005893	NP_005884	Q13939	CALI_HUMAN	calicin	108	BTB.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			ovary(1)|skin(1)	2			STAD - Stomach adenocarcinoma(86;0.228)			TTCGTGGGGCTCAGTATTTCA	0.532													G	36169823	T	G	36169823	2	3	1	1	0	0	0	0	0	0	0	1	2878	1538	54	5		5	CCIN	9	36169823	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	369004	36169823	105043608	705	705											
PTAR1	375743	broad.mit.edu	37	chr9	72347172	72347172	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatctcttcttgtatgagTcgctgtgccctttctgtggg	10	11	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:72347172T>C	uc004ahj.3	-	5	547	c.525A>G	c.(523-525)CGA>CGG	p.R175R	PTAR1_uc004ahi.2_Silent_p.R96R	NM_001099666	NP_001093136	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat	175					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)	1						CTTGTATGAGTCGCTGTGCCC	0.493													C	72347172	T	C	72347172	2	2	1	1	0	0	0	0	0	0	0	1	12724	1654	58	3		3	PTAR1	9	72347172	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	36177349	72347172	68866259	706	706											
ZCCHC6	79670	broad.mit.edu	37	chr9	88967932	88967932	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccttttctgggggtattcccAtagttccctggtgttatctt	9	10	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:88967932A>T	uc004aoq.2	-	2	398	c.183T>A	c.(181-183)TAT>TAA	p.Y61*	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Nonsense_Mutation_p.Y61*|ZCCHC6_uc004aou.2_Nonsense_Mutation_p.Y61*|ZCCHC6_uc004aov.2_Nonsense_Mutation_p.Y61*|ZCCHC6_uc004aow.2_Nonsense_Mutation_p.Y61*|ZCCHC6_uc010mqf.1_Nonsense_Mutation_p.Y61*	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	61					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						GGGTATTCCCATAGTTCCCTG	0.418													T	88967932	A	T	88967932	4	4	1	1	0	0	0	0	0	1	0	0	17589	224	8	5	4408	5	ZCCHC6	9	88967932	Nonsense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	16620760	88967932	52245499	707	707											
ZCCHC6	79670	broad.mit.edu	37	chr9	88967954	88967954	+	Frame_Shift_Del	DEL	T	T	-													agttccctggtgttatcttcTttttttgaaggcccttttcc							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:88967953_88967953CT>C	uc004aou.3	-	1	300	c.162_162AG>G	c.(160-162)aagfs	p.K54fs	ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Frame_Shift_Del_p.K54fs|ZCCHC6_uc004aot.3_Frame_Shift_Del_p.K54fs|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript|ZCCHC6_uc004aov.3_Frame_Shift_Del_p.K54fs|ZCCHC6_uc004aow.3_Frame_Shift_Del_p.K54fs|ZCCHC6_uc010mqf.2_Frame_Shift_Del_p.K54fs	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	54					RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GTGTTATCTTCTTTTTTTGAA	0.418													-	88967954	T	-	88967954	7	5	1	1	0	1	0	1	0	0	0	0	17589	1609	56	0	4430	0	ZCCHC6	9	88967954	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	22	88967954	52245477	708	708											
SHC3	53358	broad.mit.edu	37	chr9	91652990	91652990	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaaggagcccgggttggtgGtgctcttcctgaccaggaag	15	10	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:91652990G>T	uc004aqg.2	-	11	1881	c.1574C>A	c.(1573-1575)ACC>AAC	p.T525N		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	525	SH2.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4						CGGGTTGGTGGTGCTCTTCCT	0.617													T	91652990	G	T	91652990	3	4	1	1	0	0	0	0	1	0	0	0	14272	1261	44	5	218	5	SHC3	9	91652990	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2685036	91652990	49560441	709	709											
IARS	3376	broad.mit.edu	37	chr9	95022511	95022511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtttgctcattttttggCcatcacttgtaaaacaaaag	6	9	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:95022511C>T	uc004art.1	-	18	2050	c.1793G>A	c.(1792-1794)GGC>GAC	p.G598D	IARS_uc004ars.1_Missense_Mutation_p.G443D|IARS_uc004aru.3_Missense_Mutation_p.G598D|IARS_uc010mqr.2_Missense_Mutation_p.G488D|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	598					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)	CATTTTTTGGCCATCACTTGT	0.373													T	95022511	C	T	95022511	3	4	1	1	0	0	0	0	1	0	0	0	7473	739	26	2	2063	2	IARS	9	95022511	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3369521	95022511	46190920	710	710											
FGD3	89846	broad.mit.edu	37	chr9	95796864	95796864	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccagcctgctctgcggCcccctgcggctgtcagagag	13	17	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:95796864C>T	uc004asw.2	+	17	2455	c.1827C>T	c.(1825-1827)GGC>GGT	p.G609G	FGD3_uc004asx.2_Silent_p.G608G|FGD3_uc004asz.2_Silent_p.G609G|FGD3_uc011luc.1_Silent_p.G212G	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	609	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						TGCTCTGCGGCCCCCTGCGGC	0.662													T	95796864	C	T	95796864	2	4	1	1	0	0	0	0	0	0	0	1	5834	726	26	2		2	FGD3	9	95796864	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	774353	95796864	45416567	711	711											
FGD3	89846	broad.mit.edu	37	chr9	95797867	95797867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctatgggcgcagctgctcCgtgagctgagtctcccactg	12	15	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:95797867C>T	uc004asw.2	+	18	2802	c.2174C>T	c.(2173-2175)CCG>CTG	p.P725L	FGD3_uc004asx.2_Missense_Mutation_p.P724L|FGD3_uc004asz.2_Missense_Mutation_p.P725L|FGD3_uc011luc.1_Missense_Mutation_p.P328L	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	725					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						GCAGCTGCTCCGTGAGCTGAG	0.657													T	95797867	C	T	95797867	3	4	1	1	0	0	0	0	1	0	0	0	5834	652	23	1	2236	1	FGD3	9	95797867	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1003	95797867	45415564	712	712											
FBP1	2203	broad.mit.edu	37	chr9	97369155	97369155	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggtcaaagtccctggcgTagccctcgttaaggctgtag	13	11	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:97369155T>C	uc004auw.3	-	5	978	c.647A>G	c.(646-648)TAC>TGC	p.Y216C	FBP1_uc010mrl.2_Missense_Mutation_p.Y216C	NM_000507	NP_000498	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	216	Substrate binding.				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)	GTCCCTGGCGTAGCCCTCGTT	0.512													C	97369155	T	C	97369155	3	2	1	1	0	0	0	0	1	0	0	0	5705	1638	57	3	381	3	FBP1	9	97369155	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1571288	97369155	43844276	713	713											
PTCH1	5727	broad.mit.edu	37	chr9	98239102	98239102	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggccagaagaaaaacaTcatccacaccaacaccaaga	7	13	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:98239102T>C	uc004avk.3	-	11	1729	c.1541A>G	c.(1540-1542)GAT>GGT	p.D514G	PTCH1_uc010mro.2_Missense_Mutation_p.D363G|PTCH1_uc010mrp.2_Missense_Mutation_p.D363G|PTCH1_uc010mrq.2_Missense_Mutation_p.D363G|PTCH1_uc004avl.3_Missense_Mutation_p.D363G|PTCH1_uc010mrr.2_Missense_Mutation_p.D448G|PTCH1_uc004avm.3_Missense_Mutation_p.D513G|PTCH1_uc010mrs.1_Missense_Mutation_p.D182G	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	514	SSD.|Helical; (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAGAAAAACATCATCCACACC	0.423									Basal_Cell_Nevus_syndrome				C	98239102	T	C	98239102	3	2	1	1	0	0	0	0	1	0	0	0	12730	1435	50	3	2854	3	PTCH1	9	98239102	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	869947	98239102	42974329	714	714											
C9orf21	195827	broad.mit.edu	37	chr9	99404101	99404101	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaactcctacaagctgTaaaacagagttgataggttt	9	7	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:99404101T>C	uc004awm.2	-	6	657	c.621A>G	c.(619-621)TTA>TTG	p.L207L		NM_153698	NP_714542	Q7RTV5	CI021_HUMAN	hypothetical protein LOC195827	207							antioxidant activity|oxidoreductase activity			large_intestine(1)	1		Acute lymphoblastic leukemia(62;0.0559)				CTACAAGCTGTAAAACAGAGT	0.393													C	99404101	T	C	99404101	2	2	1	1	0	0	0	0	0	0	0	1	2473	1635	57	3		3	C9orf21	9	99404101	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1164999	99404101	41809330	715	715											
KIAA1529	57653	broad.mit.edu	37	chr9	100136907	100136907	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggaagagagtgagaaAcccctgattgaacgtggaag	14	6	0	5			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:100136907A>C	uc011lut.1	+	47	6005	c.5232A>C	c.(5230-5232)AAA>AAC	p.K1744N	KIAA1529_uc004axe.1_Missense_Mutation_p.K1550N|KIAA1529_uc004axg.1_Missense_Mutation_p.K1605N|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.K698N	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				AGAGTGAGAAACCCCTGATTG	0.428													C	100136907	A	C	100136907	3	2	1	1	0	0	0	0	1	0	0	0	8240	40	2	5	4792	5	KIAA1529	9	100136907	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	732806	100136907	41076524	716	716											
C9orf156	51531	broad.mit.edu	37	chr9	100672422	100672422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcttccttgcaagactgCtgctccttccactctttcta	5	16	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:100672422C>T	uc004axv.1	-	4	963	c.886G>A	c.(886-888)GCA>ACA	p.A296T	C9orf156_uc004axw.1_Missense_Mutation_p.A193T|C9orf156_uc004axx.1_Missense_Mutation_p.A150T|C9orf156_uc010msq.1_Missense_Mutation_p.A193T	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN	Nef associated protein 1	296					interspecies interaction between organisms		hydrolase activity				0		Acute lymphoblastic leukemia(62;0.158)				TGCAAGACTGCTGCTCCTTCC	0.562													T	100672422	C	T	100672422	3	4	1	1	0	0	0	0	1	0	0	0	2465	797	28	2	447	2	C9orf156	9	100672422	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	535515	100672422	40541009	717	717											
CORO2A	7464	broad.mit.edu	37	chr9	100899955	100899955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagacttttgggtagtgggGgtccaacttccctgtctgca	13	10	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:100899955G>A	uc004ayl.2	-	3	483	c.217C>T	c.(217-219)CCC>TCC	p.P73S	CORO2A_uc004aym.2_Missense_Mutation_p.P73S	NM_003389	NP_003380	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	73					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			skin(2)|ovary(1)|pancreas(1)	4		Acute lymphoblastic leukemia(62;0.0559)				GGGTAGTGGGGGTCCAACTTC	0.517													A	100899955	G	A	100899955	3	1	1	1	0	0	0	0	1	0	0	0	3756	1232	43	4	1400	4	CORO2A	9	100899955	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	227533	100899955	40313476	718	718											
INVS	27130	broad.mit.edu	37	chr9	102988442	102988442	+	Silent	SNP	C	C	T													ttgcacttgaccacccggcaCaggagccctaagtgtttggc							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:102988442C>T	uc004bap.1	+	4	584	c.372C>T	c.(370-372)CAC>CAT	p.H124H	INVS_uc010mta.1_Silent_p.H28H|INVS_uc011lve.1_Silent_p.H28H|INVS_uc004bao.1_Silent_p.H124H|INVS_uc004baq.1_Silent_p.H28H|INVS_uc004bar.1_Silent_p.H28H|INVS_uc010mtb.1_5'UTR	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	124	ANK 4.				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				CCACCCGGCACAGGAGCCCTA	0.438													T	102988442	C	T	102988442	2	4	1	1	0	0	0	0	0	0	0	1	7787	477	17	4		4	INVS	9	102988442	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2088487	102988442	38224989	719	719	2	2									
INVS	27130	broad.mit.edu	37	chr9	102988444	102988444	+	Missense_Mutation	SNP	G	G	T													gcacttgaccacccggcacaGgagccctaagtgtttggcac							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:102988444G>T	uc004bap.1	+	4	586	c.374G>T	c.(373-375)AGG>ATG	p.R125M	INVS_uc010mta.1_Missense_Mutation_p.R29M|INVS_uc011lve.1_Missense_Mutation_p.R29M|INVS_uc004bao.1_Missense_Mutation_p.R125M|INVS_uc004baq.1_Missense_Mutation_p.R29M|INVS_uc004bar.1_Missense_Mutation_p.R29M|INVS_uc010mtb.1_Translation_Start_Site	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	125	ANK 4.				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				ACCCGGCACAGGAGCCCTAAG	0.433													T	102988444	G	T	102988444	3	4	1	1	0	0	0	0	1	0	0	0	7787	1000	35	5	384	5	INVS	9	102988444	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2	102988444	38224987	720	720	2	2									
TEX10	54881	broad.mit.edu	37	chr9	103111628	103111628	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaaaatcatgttggcgTtttctttttttagtcattct	6	5	4	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:103111628T>C	uc004bas.2	-	2	233	c.18A>G	c.(16-18)AAA>AAG	p.K6K	TEX10_uc011lvf.1_5'Flank|TEX10_uc011lvg.1_Silent_p.K9K|TEX10_uc011lvh.1_Intron|TEX10_uc004bat.2_Silent_p.K6K	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10 isoform 1	6						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		CATGTTGGCGTTTTCTTTTTT	0.284													C	103111628	T	C	103111628	2	2	1	1	0	0	0	0	0	0	0	1	15769	1722	60	3		3	TEX10	9	103111628	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	123184	103111628	38101803	721	721											
BAAT	570	broad.mit.edu	37	chr9	104124938	104124938	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcccatgtctcttcagCtgtcctatggcttgttcagc	7	13	4	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:104124938C>A	uc010mtd.2	-	4	1138	c.1029G>T	c.(1027-1029)CAG>CAT	p.Q343H	BAAT_uc004bbd.3_Missense_Mutation_p.Q343H	NM_001127610	NP_001121082	Q14032	BAAT_HUMAN	bile acid Coenzyme A: amino acid	343					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			ovary(1)|lung(1)|skin(1)	3		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GTCTCTTCAGCTGTCCTATGG	0.502													A	104124938	C	A	104124938	3	1	1	1	0	0	0	0	1	0	0	0	1280	796	28	5	231	5	BAAT	9	104124938	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1013310	104124938	37088493	722	722											
OR13C8	138802	broad.mit.edu	37	chr9	107331882	107331882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcctatgtggccatggCagctgggtcctgggtcactg	17	10	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:107331882C>T	uc011lvo.1	+	1	434	c.434C>T	c.(433-435)GCA>GTA	p.A145V		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GTGGCCATGGCAGCTGGGTCC	0.502													T	107331882	C	T	107331882	3	4	1	1	0	0	0	0	1	0	0	0	10938	710	25	2	436	2	OR13C8	9	107331882	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3206944	107331882	33881549	723	723											
OR13C2	392376	broad.mit.edu	37	chr9	107366985	107366985	+	Frame_Shift_Del	DEL	T	T	-													aaccttctgttcagtaggtgTtttactgcctctttcacatc							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:107366984_107366984GT>G	uc011lvq.2	-	0	925	c.925_925AC>C	c.(925-927)cacfs	p.H309fs		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TTCAGTAGGTGTTTTACTGCC	0.353													-	107366985	T	-	107366985	7	5	1	1	0	1	0	1	0	0	0	0	10934	1722	60	0	35	0	OR13C2	9	107366985	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	35103	107366985	33846446	724	724											
ABCA1	19	broad.mit.edu	37	chr9	107550741	107550741	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctgggactcctctcaaaAgggcaaagaactccacgtgt	9	12	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:107550741A>G	uc004bcl.2	-	45	6348	c.6035T>C	c.(6034-6036)CTT>CCT	p.L2012P	NIPSNAP3B_uc004bcj.1_RNA	NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	2012	ABC transporter 2.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCCTCTCAAAAGGGCAAAGAA	0.483													G	107550741	A	G	107550741	3	3	1	1	0	0	0	0	1	0	0	0	28	72	3	3	774	3	ABCA1	9	107550741	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	183756	107550741	33662690	725	725											
KIAA0368	23392	broad.mit.edu	37	chr9	114140904	114140905	+	Frame_Shift_Ins	INS	-	-	G													ctcaaataattgagaacttgINSgggctccaatacacttaagg							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:114140903_114140904T>TG	uc004bfe.1	-	36	4444_4445	c.4444_4445A>CA	c.(4444-4446)caafs	p.Q1482fs		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ATTGAGAACTTGGGGCTCCAAT	0.48													G	114140905	-	G	114140904	7	5	1	1	0	1	1	0	0	0	0	0	8171	1357	47	0	1669	0	KIAA0368	9	114140904	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	6590163	114140904	27072527	726	726											
KIAA0368	23392	broad.mit.edu	37	chr9	114199319	114199319	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggattccagaacctccGccactgtttgaagaagaacc	10	11	0	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:114199319G>A	uc004bfe.1	-	8	1143	c.1143C>T	c.(1141-1143)GGC>GGT	p.G381G	KIAA0368_uc010muc.1_Silent_p.G203G	NM_001080398	NP_001073867			KIAA0368 protein												0						CAGAACCTCCGCCACTGTTTG	0.453													A	114199319	G	A	114199319	2	1	1	1	0	0	0	0	0	0	0	1	8171	1074	38	1		1	KIAA0368	9	114199319	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	58415	114199319	27014112	727	727											
ZNF483	158399	broad.mit.edu	37	chr9	114296627	114296627	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagtctcaaaaagctccCgactaggtgagttggtgaaa	11	7	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:114296627C>T	uc004bff.2	+	5	939	c.715C>T	c.(715-717)CGA>TGA	p.R239*	ZNF483_uc011lwq.1_Nonsense_Mutation_p.R239*|ZNF483_uc004bfg.2_Nonsense_Mutation_p.R239*	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	239	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						AAAAAGCTCCCGACTAGGTGA	0.378													T	114296627	C	T	114296627	4	4	1	1	0	0	0	0	0	1	0	0	17933	644	23	1	729	1	ZNF483	9	114296627	Nonsense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	97308	114296627	26916804	728	728											
FKBP15	23307	broad.mit.edu	37	chr9	115945145	115945145	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaggttactctgctcaacAtacctgtgaaagaaatagag	8	8	3	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:115945145A>G	uc004bgs.2	-	19	1933	c.1815T>C	c.(1813-1815)TAT>TAC	p.Y605Y	FKBP15_uc010muu.1_Silent_p.Y669Y|FKBP15_uc004bgr.2_Silent_p.Y52Y|FKBP15_uc011lxc.1_Silent_p.Y186Y|FKBP15_uc011lxd.1_Silent_p.Y537Y|FKBP15_uc010mut.1_Silent_p.Y473Y	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	605	Potential.				endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3						TCTGCTCAACATACCTGTGAA	0.438													G	115945145	A	G	115945145	2	3	1	1	0	0	0	0	0	0	0	1	5905	224	8	3		3	FKBP15	9	115945145	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1648518	115945145	25268286	729	729											
PRPF4	9128	broad.mit.edu	37	chr9	116044975	116044975	+	Frame_Shift_Del	DEL	A	A	-													ctgatgccttgaaaaagaccAaaaaggatgatgagaagtct							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:116044974_116044974CA>C	uc004bgx.3	+	3	554	c.444_444CA>C	c.(442-444)accfs	p.T148fs	PRPF4_uc004bgy.3_Frame_Shift_Del_p.T147fs	NM_004697	NP_004688	O43172	PRP4_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog (yeast) (PRPF4), transcript variant 1, mRNA.	148						Cajal body|U4/U6 snRNP|nuclear speck|spliceosomal complex	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						TGAAAAAGACCAAAAAGGATG	0.338													-	116044975	A	-	116044975	7	5	1	1	0	1	0	1	0	0	0	0	12570	131	5	0	459	0	PRPF4	9	116044975	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	99830	116044975	25168456	730	730											
KIF12	113220	broad.mit.edu	37	chr9	116857359	116857359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggcttgcatatcgcagggTgctgagagtctcaggaaggc	15	9	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:116857359T>C	uc004bif.2	-	8	887	c.649A>G	c.(649-651)ACC>GCC	p.T217A	KIF12_uc004big.2_RNA	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	kinesin family member 12	350					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						TATCGCAGGGTGCTGAGAGTC	0.652													C	116857359	T	C	116857359	3	2	1	1	0	0	0	0	1	0	0	0	8273	1696	59	3	928	3	KIF12	9	116857359	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	812384	116857359	24356072	731	731											
PAPPA	5069	broad.mit.edu	37	chr9	118949475	118949475	+	Frame_Shift_Del	DEL	G	G	-													tatctcacgtgaccgaggatGggtcgtgggcattcacacca							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:118949474_118949474TG>T	uc004bjn.3	+	1	838	c.457_457TG>T	c.(457-459)tggfs	p.W153fs	PAPPA_uc011lxp.1_5'UTR|PAPPA_uc011lxq.2_5'UTR	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	153					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGACCGAGGATGGGTCGTGGG	0.478													-	118949475	G	-	118949475	7	5	1	1	0	1	0	1	0	0	0	0	11432	1357	47	0	464	0	PAPPA	9	118949475	Frame_Shift_Del	DEL	G	TCGA-B7-5816-01A-21D-1600-08	2092116	118949475	22263956	732	732											
RBM18	92400	broad.mit.edu	37	chr9	125007550	125007550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaccttaggttagactgaGtaggctcagtgcttgaggat	12	7	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:125007550G>A	uc004bma.2	-	5	564	c.398C>T	c.(397-399)ACT>ATT	p.T133I	RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_RNA	NM_033117	NP_149108	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	133							nucleotide binding|RNA binding				0						GTTAGACTGAGTAGGCTCAGT	0.358													A	125007550	G	A	125007550	3	1	1	1	0	0	0	0	1	0	0	0	13120	1029	36	4	182	4	RBM18	9	125007550	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	6058075	125007550	16205881	733	733											
OR1L6	392390	broad.mit.edu	37	chr9	125512246	125512246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatgtacctgctcgctgcGgtggggaatgtgctcatcat	12	10	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:125512246G>A	uc011lzc.1	+	1	228	c.228G>A	c.(226-228)GCG>GCA	p.A76A		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L,	76	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGCTCGCTGCGGTGGGGAATG	0.537													A	125512246	G	A	125512246	2	1	1	1	0	0	0	0	0	0	0	1	10966	1103	39	1		1	OR1L6	9	125512246	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	504696	125512246	15701185	734	734											
RC3H2	54542	broad.mit.edu	37	chr9	125659721	125659721	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgggtttgtgcacattcTcatcaaattcattatagcag	8	7	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:125659721T>G	uc010mwc.1	-	2	309	c.68A>C	c.(67-69)GAG>GCG	p.E23A	RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.E23A|RC3H2_uc004bne.3_Missense_Mutation_p.E23A|RC3H2_uc011lzg.1_Missense_Mutation_p.E23A|RC3H2_uc004bng.1_Missense_Mutation_p.E23A	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	23	RING-type; degenerate.					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4						GTGCACATTCTCATCAAATTC	0.448													G	125659721	T	G	125659721	3	3	1	1	0	0	0	0	1	0	0	0	13167	1551	54	5	3665	5	RC3H2	9	125659721	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	147475	125659721	15553710	735	735											
RALGPS1	9649	broad.mit.edu	37	chr9	129974417	129974417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctctcctcagccccaccGgcccgtgcatctgttctctg	8	18	4	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:129974417G>A	uc004bqo.1	+	15	1522	c.1255G>A	c.(1255-1257)GGC>AGC	p.G419S	RALGPS1_uc011mac.1_Missense_Mutation_p.G377S|RALGPS1_uc004bqq.3_Missense_Mutation_p.G377S	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	419					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			ovary(1)	1						CAGCCCCACCGGCCCGTGCAT	0.622													A	129974417	G	A	129974417	3	1	1	1	0	0	0	0	1	0	0	0	13017	1116	39	1	1309	1	RALGPS1	9	129974417	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	4314696	129974417	11239014	736	736											
C9orf117	286207	broad.mit.edu	37	chr9	130473600	130473600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggagacaaccaagcgggCcatcaaagagaacaacggca	13	10	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:130473600C>T	uc004brn.1	+	4	720	c.680C>T	c.(679-681)GCC>GTC	p.A227V	PTRH1_uc004brm.2_Intron|C9orf117_uc010mxl.1_RNA	NM_001012502	NP_001012520	Q5JU67	CI117_HUMAN	hypothetical protein LOC286207	227											0						ACCAAGCGGGCCATCAAAGAG	0.562													T	130473600	C	T	130473600	3	4	1	1	0	0	0	0	1	0	0	0	2451	739	26	2	694	2	C9orf117	9	130473600	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	499183	130473600	10739831	737	737											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130652960	130652960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaggtcgtcaaattgccgCatgcggccgggagagacggc	16	10	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:130652960C>T	uc004bso.1	-	5	779	c.660G>A	c.(658-660)ATG>ATA	p.M220I	ST6GALNAC6_uc004bsn.1_Missense_Mutation_p.M186I|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bsp.1_Missense_Mutation_p.M220I|ST6GALNAC6_uc004bsq.1_Missense_Mutation_p.M186I|ST6GALNAC6_uc004bsr.2_Missense_Mutation_p.M186I|ST6GALNAC6_uc010mxp.1_RNA	NM_013443	NP_038471	Q969X2	SIA7F_HUMAN	sialytransferase 7F	220	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane|plasma membrane					0						CAAATTGCCGCATGCGGCCGG	0.642													T	130652960	C	T	130652960	3	4	1	1	0	0	0	0	1	0	0	0	15227	710	25	2	353	2	ST6GALNAC6	9	130652960	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	179360	130652960	10560471	738	738											
PIP5KL1	138429	broad.mit.edu	37	chr9	130687433	130687433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgggcccctctcatcctcGtggagacgttggaaggctat	12	14	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:130687433G>A	uc011mao.1	-	9	915	c.870C>T	c.(868-870)CAC>CAT	p.H290H	PIP5KL1_uc004bsu.2_Silent_p.H87H	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	290	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			lung(1)|kidney(1)	2						TCTCATCCTCGTGGAGACGTT	0.607													A	130687433	G	A	130687433	2	1	1	1	0	0	0	0	0	0	0	1	11942	1136	40	1		1	PIP5KL1	9	130687433	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	34473	130687433	10525998	739	739											
GOLGA2	2801	broad.mit.edu	37	chr9	131023773	131023773	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctctgccgccacatggcgCtctctcctttgagattctcc	7	17	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:131023773C>A	uc011maw.1	-	15	1224	c.1211G>T	c.(1210-1212)AGC>ATC	p.S404I	GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_5'Flank|GOLGA2_uc004bul.1_Missense_Mutation_p.S305I|uc004bun.2_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	404	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						CCACATGGCGCTCTCTCCTTT	0.433													A	131023773	C	A	131023773	3	1	1	1	0	0	0	0	1	0	0	0	6552	797	28	5	1845	5	GOLGA2	9	131023773	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	336340	131023773	10189658	740	740											
SPTAN1	6709	broad.mit.edu	37	chr9	131388889	131388889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagatcaagagcttccgcGtagcctccaacccctacacc	7	18	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:131388889G>A	uc004bvl.3	+	48	6597	c.6484G>A	c.(6484-6486)GTA>ATA	p.V2162I	SPTAN1_uc004bvm.3_Missense_Mutation_p.V2167I|SPTAN1_uc004bvn.3_Missense_Mutation_p.V2142I|SPTAN1_uc010mye.1_5'UTR|SPTAN1_uc010myf.1_5'UTR	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2162	Spectrin 22.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						GAGCTTCCGCGTAGCCTCCAA	0.617													A	131388889	G	A	131388889	3	1	1	1	0	0	0	0	1	0	0	0	15116	1145	40	1	6689	1	SPTAN1	9	131388889	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	365116	131388889	9824542	741	741											
ZER1	10444	broad.mit.edu	37	chr9	131503844	131503844	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggaagagcttcatgccGttgaaattgaggaacatctc	10	9	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:131503844G>A	uc004bwa.1	-	11	2140	c.1707C>T	c.(1705-1707)AAC>AAT	p.N569N		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	569	ARM 3.				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						GCTTCATGCCGTTGAAATTGA	0.562													A	131503844	G	A	131503844	2	1	1	1	0	0	0	0	0	0	0	1	17622	1136	40	1		1	ZER1	9	131503844	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	114955	131503844	9709587	742	742											
FUBP3	8939	broad.mit.edu	37	chr9	133470916	133470916	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacttgaataattccacacCtctagtggacccctcagtat	5	13	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:133470916C>A	uc004bzr.1	+	2	239	c.131C>A	c.(130-132)CCT>CAT	p.P44H	FUBP3_uc010mzd.1_5'UTR|FUBP3_uc004bzs.1_Intron	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	44					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		AATTCCACACCTCTAGTGGAC	0.413													A	133470916	C	A	133470916	3	1	1	1	0	0	0	0	1	0	0	0	6093	681	24	5	137	5	FUBP3	9	133470916	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1967072	133470916	7742515	743	743											
NUP214	8021	broad.mit.edu	37	chr9	134073173	134073173	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catcagttttggtgggacatCtctaagtgctggcaagacta	11	8	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:134073173C>T	uc004cag.2	+	29	4403	c.4292C>T	c.(4291-4293)TCT>TTT	p.S1431F	NUP214_uc004cah.2_Missense_Mutation_p.S1421F|NUP214_uc004cai.2_Missense_Mutation_p.S861F|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.S257F|NUP214_uc011mcf.1_Missense_Mutation_p.S208F|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	1431	Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GGTGGGACATCTCTAAGTGCT	0.547			T	DEK|SET|ABL1	AML|T-ALL								T	134073173	C	T	134073173	3	4	1	1	0	0	0	0	1	0	0	0	10762	913	32	4	4406	4	NUP214	9	134073173	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	602257	134073173	7140258	744	744											
POMT1	10585	broad.mit.edu	37	chr9	134394318	134394318	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacgggagcacggtgtggaAcgtggaggagcaccgatacg	17	10	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:134394318A>G	uc004cav.2	+	15	1728	c.1526A>G	c.(1525-1527)AAC>AGC	p.N509S	POMT1_uc004cax.2_Missense_Mutation_p.N487S|POMT1_uc011mcj.1_Missense_Mutation_p.N265S|POMT1_uc004cau.2_Missense_Mutation_p.N487S|POMT1_uc004caw.2_Missense_Mutation_p.N433S|POMT1_uc011mck.1_Missense_Mutation_p.N370S|POMT1_uc011mcl.1_Missense_Mutation_p.N335S|POMT1_uc011mcm.1_Missense_Mutation_p.N457S|POMT1_uc011mcn.1_3'UTR	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	509	MIR 3.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		ACGGTGTGGAACGTGGAGGAG	0.627													G	134394318	A	G	134394318	3	3	1	1	0	0	0	0	1	0	0	0	12245	43	2	3	1580	3	POMT1	9	134394318	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	321145	134394318	6819113	745	745											
SETX	23064	broad.mit.edu	37	chr9	135202796	135202796	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagttcctcctgtacaatTataatctgacctatcagatt	4	11	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:135202796T>C	uc004cbk.2	-	10	4372	c.4189A>G	c.(4189-4191)AAT>GAT	p.N1397D	SETX_uc004cbj.2_Missense_Mutation_p.N1016D|SETX_uc010mzt.2_Missense_Mutation_p.N1016D	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	1397					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CCTGTACAATTATAATCTGAC	0.373													C	135202796	T	C	135202796	3	2	1	1	0	0	0	0	1	0	0	0	14141	1754	61	3	3912	3	SETX	9	135202796	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	808478	135202796	6010635	746	746											
TSC1	7248	broad.mit.edu	37	chr9	135771689	135771689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaacactgtccggggtcGggggagacgggtgagggcca	19	10	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:135771689G>A	uc004cca.2	-	23	3662	c.3428C>T	c.(3427-3429)CCG>CTG	p.P1143L	TSC1_uc004ccb.3_Missense_Mutation_p.P1142L|TSC1_uc011mcq.1_Missense_Mutation_p.P1092L|TSC1_uc011mcr.1_3'UTR	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	1143					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GTCCGGGGTCGGGGGAGACGG	0.493			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				A	135771689	G	A	135771689	3	1	1	1	0	0	0	0	1	0	0	0	16602	1116	39	1	70	1	TSC1	9	135771689	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	568893	135771689	5441742	747	747											
SURF2	6835	broad.mit.edu	37	chr9	136226847	136226847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaatgtcagaagcaagGggtggagtacgtgcctgcct	15	7	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:136226847G>A	uc004cdi.2	+	4	407	c.359G>A	c.(358-360)GGG>GAG	p.G120E		NM_017503	NP_059973	Q15527	SURF2_HUMAN	surfeit 2	120							protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		CAGAAGCAAGGGGTGGAGTAC	0.637													A	136226847	G	A	136226847	3	1	1	1	0	0	0	0	1	0	0	0	15401	1232	43	4	373	4	SURF2	9	136226847	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	455158	136226847	4986584	748	748											
SNAPC4	6621	broad.mit.edu	37	chr9	139272334	139272334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgtggagtaggagaccGgacagagctcgcaggctgca	15	9	1	2	rs142001603	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:139272334G>A	uc004chh.2	-	21	3954	c.3945C>T	c.(3943-3945)TCC>TCT	p.S1315S		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	1315	SNAPC2-binding.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GTAGGAGACCGGACAGAGCTC	0.697													A	139272334	G	A	139272334	2	1	1	1	0	0	0	0	0	0	0	1	14837	1103	39	1		1	SNAPC4	9	139272334	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	3045487	139272334	1941097	749	749											
NOTCH1	4851	broad.mit.edu	37	chr9	139407497	139407497	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagggcagcaggcagttgcActtgtacccggcaacgtcgt	14	11	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:139407497A>G	uc004chz.2	-	15	2443	c.2443T>C	c.(2443-2445)TGC>CGC	p.C815R	NOTCH1_uc004cia.1_Missense_Mutation_p.C45R	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	815	Extracellular (Potential).|EGF-like 21; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.G812fs*59(1)|p.G812fs*58(1)		haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGCAGTTGCACTTGTACCCG	0.642			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			G	139407497	A	G	139407497	3	3	1	1	0	0	0	0	1	0	0	0	10547	159	6	3	5304	3	NOTCH1	9	139407497	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	135163	139407497	1805934	750	750											
C9orf86	55684	broad.mit.edu	37	chr9	139726231	139726231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacccacgtgccagtgtgcGtgctgggaaactaccgggac	13	14	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:139726231G>A	uc004cji.1	+	6	785	c.517G>A	c.(517-519)GTG>ATG	p.V173M	C9orf86_uc004cjm.2_Missense_Mutation_p.V173M|C9orf86_uc004cjh.2_Missense_Mutation_p.V173M|C9orf86_uc004cjj.1_Missense_Mutation_p.V173M|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Missense_Mutation_p.V173M|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Missense_Mutation_p.V58M	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN	Rab-like GTP-binding protein 1 isoform 1	173	Small GTPase-like.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		GCCAGTGTGCGTGCTGGGAAA	0.607													A	139726231	G	A	139726231	3	1	1	1	0	0	0	0	1	0	0	0	2502	1145	40	1	539	1	C9orf86	9	139726231	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	318734	139726231	1487200	751	751											
ENTPD2	954	broad.mit.edu	37	chr9	139945517	139945517	+	Frame_Shift_Del	DEL	C	C	-													aagtgatctgggtagaggcaCcccccaggtccatggccccc							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:139945516_139945516AC>A	uc004ckw.2	-	4	666	c.612_612GT>T	c.(610-612)ggtfs	p.G204fs	ENTPD2_uc004ckv.2_5'Flank|ENTPD2_uc022bqb.1_5'Flank|ENTPD2_uc004ckx.2_Frame_Shift_Del_p.G204fs	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 2 (ENTPD2), transcript variant 1, mRNA.	204						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGGTAGAGGCACCCCCCAGGT	0.647													-	139945517	C	-	139945517	7	5	1	1	0	1	0	1	0	0	0	0	5139	507	18	0	896	0	ENTPD2	9	139945517	Frame_Shift_Del	DEL	C	TCGA-B7-5816-01A-21D-1600-08	219286	139945517	1267914	752	752											
DIP2C	22982	broad.mit.edu	37	chr10	465046	465046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgttgccgtacttgggcGctgtccgggaccccgtggaa	16	13	0	0	rs77328768	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:465046G>A	uc001ifp.2	-	6	788	c.698C>T	c.(697-699)GCG>GTG	p.A233V		NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	233						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GTACTTGGGCGCTGTCCGGGA	0.557													A	465046	G	A	465046	3	1	1	1	0	0	0	0	1	0	0	0	4529	1087	38	1	4100	1	DIP2C	10	465046	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08		465046	135069701	753	753											
TUBAL3	79861	broad.mit.edu	37	chr10	5437415	5437415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggggtggaagagtgaacGgtgctggcccgtccggatcc	17	11	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:5437415G>A	uc001ihy.2	-	3	311	c.271C>T	c.(271-273)CGT>TGT	p.R91C	TUBAL3_uc001ihz.2_Missense_Mutation_p.R51C	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	91					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1						AAGAGTGAACGGTGCTGGCCC	0.597													A	5437415	G	A	5437415	3	1	1	1	0	0	0	0	1	0	0	0	16748	1116	39	1	1077	1	TUBAL3	10	5437415	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	4972369	5437415	130097332	754	754											
NET1	10276	broad.mit.edu	37	chr10	5495290	5495290	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatttggtgatctggactcTtacatacctctgcatgaagg	9	8	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:5495290T>C	uc001iia.2	+	7	810	c.672T>C	c.(670-672)TCT>TCC	p.S224S	NET1_uc010qar.1_Silent_p.S43S|NET1_uc001iib.2_Silent_p.S170S|NET1_uc010qas.1_Silent_p.S43S	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming gene 1 isoform	224	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(1)	1						ATCTGGACTCTTACATACCTC	0.408													C	5495290	T	C	5495290	2	2	1	1	0	0	0	0	0	0	0	1	10338	1596	56	3		3	NET1	10	5495290	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	57875	5495290	130039457	755	755											
FBXO18	84893	broad.mit.edu	37	chr10	5957467	5957467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcgcaaagcaggccgaaCgcgtcttccccagcaacgtc	10	16	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:5957467C>T	uc001iis.2	+	9	1593	c.1498C>T	c.(1498-1500)CGC>TGC	p.R500C	FBXO18_uc001iir.2_Missense_Mutation_p.R426C|FBXO18_uc009xig.2_Missense_Mutation_p.R426C|FBXO18_uc001iit.2_Missense_Mutation_p.R551C	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	500					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						GCAGGCCGAACGCGTCTTCCC	0.532													T	5957467	C	T	5957467	3	4	1	1	0	0	0	0	1	0	0	0	5731	536	19	1	1694	1	FBXO18	10	5957467	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	462177	5957467	129577280	756	756											
PRKCQ	5588	broad.mit.edu	37	chr10	6553148	6553148	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttttctggatatacatctGcccgttctctaggaacagaa	7	10	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:6553148G>A	uc001ijj.1	-	3	202	c.127C>T	c.(127-129)CAG>TAG	p.Q43*	PRKCQ_uc009xim.1_Nonsense_Mutation_p.Q43*|PRKCQ_uc001iji.1_Nonsense_Mutation_p.Q76*|PRKCQ_uc009xin.1_Nonsense_Mutation_p.Q7*|PRKCQ_uc010qax.1_5'UTR	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	43	C2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						ATATACATCTGCCCGTTCTCT	0.458													A	6553148	G	A	6553148	4	1	1	1	0	0	0	0	0	1	0	0	12515	1328	46	2	2057	2	PRKCQ	10	6553148	Nonsense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	595681	6553148	128981599	757	757											
KIN	22944	broad.mit.edu	37	chr10	7817765	7817765	+	Splice_Site	DEL	A	A	-													cgtaaaagtagggacctcctAaaaaaaagaaagttttaagg							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:7817764_7817764TA>T	uc001ijt.3	-	6	653	c.559_splice	c.e6-1	p.E187_splice	KIN_uc010qaz.2_Splice_Site|KIN_uc010qba.2_Splice_Site_p.E81_splice	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	187					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGACCTCCTAAAAAAAAGA	0.318													-	7817765	A	-	7817765	8	5	1	1	0	1	0	1	0	0	1	0	8315	377	13	0		0	KIN	10	7817765	Splice_Site	DEL	A	TCGA-B7-5816-01A-21D-1600-08	1264617	7817765	127716982	758	758											
CELF2	10659	broad.mit.edu	37	chr10	11363285	11363285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagtacgcagccgccgcGctgcccactctgtacagcca	9	18	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:11363285G>A	uc001iki.3	+	11	1283	c.1191G>A	c.(1189-1191)GCG>GCA	p.A397A	CELF2_uc010qbj.1_Silent_p.A403A|CELF2_uc001ikk.2_Silent_p.A422A|CELF2_uc001ikl.3_Silent_p.A410A|CELF2_uc010qbl.1_Silent_p.A373A|CELF2_uc010qbm.1_Silent_p.A169A|CELF2_uc001iko.3_Silent_p.A377A|CELF2_uc001ikp.3_Silent_p.A379A|CELF2_uc010qbn.1_Silent_p.A385A|CELF2_uc010qbo.1_Silent_p.A292A|CELF2_uc010qbp.1_Silent_p.A169A	NM_001025077	NP_001020248	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2	397	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|Ala-rich.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0						CAGCCGCCGCGCTGCCCACTC	0.662													A	11363285	G	A	11363285	2	1	1	1	0	0	0	0	0	0	0	1	3216	1074	38	1		1	CELF2	10	11363285	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	3545520	11363285	124171462	759	759											
FRMD4A	55691	broad.mit.edu	37	chr10	13701408	13701408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagttccagtgcgggaggcCgcggatggggctgttctgca	19	9	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:13701408C>T	uc001ims.2	-	21	2333	c.1981G>A	c.(1981-1983)GGC>AGC	p.G661S	FRMD4A_uc009xjf.1_Missense_Mutation_p.G661S	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	661	Ser-rich.					cytoplasm|cytoskeleton	binding			ovary(1)|skin(1)|pancreas(1)	3						TGCGGGAGGCCGCGGATGGGG	0.652													T	13701408	C	T	13701408	3	4	1	1	0	0	0	0	1	0	0	0	6051	652	23	1	1154	1	FRMD4A	10	13701408	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2338123	13701408	121833339	760	760											
NMT2	9397	broad.mit.edu	37	chr10	15172276	15172276	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgatctcaacttcttatgaAcacaaagaaagttgatttct	5	8	3	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:15172276A>G	uc001inz.1	-	7	839	c.755T>C	c.(754-756)GTT>GCT	p.V252A	NMT2_uc001ioa.1_Missense_Mutation_p.V239A|NMT2_uc009xjo.1_Missense_Mutation_p.V252A|NMT2_uc010qbz.1_Missense_Mutation_p.V64A	NM_004808	NP_004799	O60551	NMT2_HUMAN	N-myristoyltransferase 2	252					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			ovary(1)	1						CTTCTTATGAACACAAAGAAA	0.413													G	15172276	A	G	15172276	3	3	1	1	0	0	0	0	1	0	0	0	10504	43	2	3	765	3	NMT2	10	15172276	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1470868	15172276	120362471	761	761											
RSU1	6251	broad.mit.edu	37	chr10	16806444	16806444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatctgtgtgggcagctcctCgatttggttattaaaaaagt	11	6	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:16806444C>T	uc001iok.2	-	3	528	c.226G>A	c.(226-228)GAG>AAG	p.E76K	RSU1_uc001iol.2_Missense_Mutation_p.E76K|RSU1_uc001iom.2_Missense_Mutation_p.E23K|RSU1_uc001ion.2_Missense_Mutation_p.E76K	NM_152724	NP_689937	Q15404	RSU1_HUMAN	ras suppressor protein 1 isoform 2	76	LRR 2.				cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(1;7.54e-08)		GGCAGCTCCTCGATTTGGTTA	0.463													T	16806444	C	T	16806444	3	4	1	1	0	0	0	0	1	0	0	0	13716	893	31	1	631	1	RSU1	10	16806444	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1634168	16806444	118728303	762	762											
APBB1IP	54518	broad.mit.edu	37	chr10	26800723	26800723	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacagcacaaagtcactgatGgtggatgagcggcagctggc	14	9	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:26800723G>T	uc001iss.2	+	7	900	c.579G>T	c.(577-579)ATG>ATT	p.M193I	APBB1IP_uc009xks.1_Missense_Mutation_p.M193I	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	193	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7						AGTCACTGATGGTGGATGAGC	0.483													T	26800723	G	T	26800723	3	4	1	1	0	0	0	0	1	0	0	0	760	1348	47	5	597	5	APBB1IP	10	26800723	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	9994279	26800723	108734024	763	763											
APBB1IP	54518	broad.mit.edu	37	chr10	26825134	26825134	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaatttattatgtacccaaAggaaagactaaggtcagaaa	9	5	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:26825134A>C	uc001iss.2	+	10	1353	c.1032A>C	c.(1030-1032)AAA>AAC	p.K344N	APBB1IP_uc009xks.1_Missense_Mutation_p.K344N	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	344	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7						ATGTACCCAAAGGAAAGACTA	0.333													C	26825134	A	C	26825134	3	2	1	1	0	0	0	0	1	0	0	0	760	69	3	5	1062	5	APBB1IP	10	26825134	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	24411	26825134	108709613	764	764											
YME1L1	10730	broad.mit.edu	37	chr10	27405252	27405252	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctagtttcattccatctgTcattctcaggtaacagggac	7	11	5	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:27405252T>C	uc001iti.2	-	17	2095	c.1913A>G	c.(1912-1914)GAC>GGC	p.D638G	YME1L1_uc001itj.2_Missense_Mutation_p.D581G|YME1L1_uc010qdl.1_Missense_Mutation_p.D548G|YME1L1_uc009xkv.2_RNA	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	638					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						ATTCCATCTGTCATTCTCAGG	0.318													C	27405252	T	C	27405252	3	2	1	1	0	0	0	0	1	0	0	0	17484	1667	58	3	424	3	YME1L1	10	27405252	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	580118	27405252	108129495	765	765											
KIF5B	3799	broad.mit.edu	37	chr10	32306280	32306280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggagatctgcattatcaCgtaccaactaaacgtacaca	7	11	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:32306280C>T	uc001iwe.3	-	24	3022	c.2552G>A	c.(2551-2553)CGT>CAT	p.R851H		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	851					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)				TGCATTATCACGTACCAACTA	0.383													T	32306280	C	T	32306280	3	4	1	1	0	0	0	0	1	0	0	0	8306	536	19	1	347	1	KIF5B	10	32306280	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	4901028	32306280	103228467	766	766											
C10orf68	79741	broad.mit.edu	37	chr10	33137552	33137552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatttaaaaacaaagatatGtccgtacaacgtcaagaagg	7	6	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:33137552G>A	uc001iwn.3	+	19	2003	c.1530G>A	c.(1528-1530)ATG>ATA	p.M510I	C10orf68_uc001iwl.1_Missense_Mutation_p.M469I|C10orf68_uc001iwm.1_Missense_Mutation_p.M514I|C10orf68_uc010qei.1_Missense_Mutation_p.M486I|C10orf68_uc001iwo.3_RNA	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	510										skin(2)|ovary(1)	3						ACAAAGATATGTCCGTACAAC	0.313													A	33137552	G	A	33137552	3	1	1	1	0	0	0	0	1	0	0	0	1613	1377	48	4	1596	4	C10orf68	10	33137552	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	831272	33137552	102397195	767	767											
PARD3	56288	broad.mit.edu	37	chr10	34759011	34759011	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaacaagcagaggtggttAccttcctgtcgcaggtttta	11	9	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:34759011A>G	uc010qej.1	-	4	582	c.582_splice	c.e4+1	p.K194_splice	PARD3_uc010qek.1_Splice_Site_p.K194_splice|PARD3_uc010qel.1_Splice_Site_p.K194_splice|PARD3_uc010qem.1_Splice_Site_p.K194_splice|PARD3_uc010qen.1_Splice_Site_p.K194_splice|PARD3_uc010qeo.1_Splice_Site_p.K194_splice|PARD3_uc010qep.1_Splice_Site_p.K194_splice|PARD3_uc010qeq.1_Splice_Site_p.K194_splice|PARD3_uc001ixp.1_Splice_Site_p.K59_splice|PARD3_uc001ixq.1_Splice_Site_p.K194_splice|PARD3_uc001ixr.1_Splice_Site_p.K194_splice|PARD3_uc001ixt.1_Splice_Site_p.K59_splice|PARD3_uc001ixu.1_Splice_Site_p.K194_splice	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)				AGAGGTGGTTACCTTCCTGTC	0.517													G	34759011	A	G	34759011	5	3	1	1	0	0	0	0	0	0	1	0	11443	405	14	3	3609	3	PARD3	10	34759011	Splice_Site	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1621459	34759011	100775736	768	768											
CREM	1390	broad.mit.edu	37	chr10	35495831	35495831	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttttactgcagctgccactGgtgacatgccaacttaccag	9	12	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:35495831G>T	uc001iyb.2	+	7	769	c.607G>T	c.(607-609)GGT>TGT	p.G203C	CREM_uc001ixy.2_5'UTR|CREM_uc001ixz.2_5'UTR|CREM_uc001iya.2_Missense_Mutation_p.G152C|CREM_uc001iyc.2_Missense_Mutation_p.G124C|CREM_uc001iyd.2_Missense_Mutation_p.G203C|CREM_uc001iye.2_Missense_Mutation_p.G140C|CREM_uc001iyf.2_Missense_Mutation_p.G173C|CREM_uc001iyg.2_Missense_Mutation_p.G110C|CREM_uc001iyh.2_Missense_Mutation_p.G148C|CREM_uc001iyi.2_Missense_Mutation_p.G85C|CREM_uc001iyj.2_Missense_Mutation_p.G82C|CREM_uc001iyk.2_Missense_Mutation_p.G82C|CREM_uc001iyl.2_Missense_Mutation_p.G24C|CREM_uc001iym.2_Missense_Mutation_p.G24C|CREM_uc001iyn.2_Missense_Mutation_p.G12C|CREM_uc001iyo.2_Missense_Mutation_p.G12C|CREM_uc001iyp.2_Missense_Mutation_p.G6C|CREM_uc001iyq.2_Missense_Mutation_p.G16C|CREM_uc001iyr.2_Missense_Mutation_p.G16C|CREM_uc001iys.2_5'UTR|CREM_uc001iyt.2_5'UTR	NM_181571	NP_853549	Q03060	CREM_HUMAN	cAMP responsive element modulator isoform a	264					cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AGCTGCCACTGGTGACATGCC	0.433													T	35495831	G	T	35495831	3	4	1	1	0	0	0	0	1	0	0	0	3868	1348	47	5	881	5	CREM	10	35495831	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	736820	35495831	100038916	769	769											
ANKRD30A	91074	broad.mit.edu	37	chr10	37438712	37438712	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaccccatttagcctgccaTtgaaatgcaaaactctgttc	5	13	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:37438712T>C	uc001iza.1	+	11	1511	c.1412T>C	c.(1411-1413)ATT>ACT	p.I471T		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	527						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						TAGCCTGCCATTGAAATGCAA	0.279													C	37438712	T	C	37438712	3	2	1	1	0	0	0	0	1	0	0	0	658	1493	52	3	1454	3	ANKRD30A	10	37438712	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1942881	37438712	98096035	770	770											
FRMPD2	143162	broad.mit.edu	37	chr10	49419998	49419998	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggtcaggaaggccttaccCtcaagaacttcagctcagca	9	13	4	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:49419998C>A	uc001jgi.2	-	13	1717	c.1610G>T	c.(1609-1611)AGG>ATG	p.R537M	FRMPD2_uc001jgh.2_Missense_Mutation_p.R505M|FRMPD2_uc001jgj.2_Missense_Mutation_p.R515M	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	537	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		AGGCCTTACCCTCAAGAACTT	0.577													A	49419998	C	A	49419998	3	1	1	1	0	0	0	0	1	0	0	0	6058	695	24	5	2387	5	FRMPD2	10	49419998	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	11981286	49419998	86114749	771	771											
DRGX	644168	broad.mit.edu	37	chr10	50594774	50594774	+	Frame_Shift_Del	DEL	G	G	-													tactccgggcttggtccccaGggggcggggagttgatgttt							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:50594773_50594773AG>A	uc010qgq.2	-	3	381	c.381_381CT>T	c.(379-381)cctfs	p.P127fs	DRGX_uc021pqd.1_Frame_Shift_Del_p.P122fs	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	127					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						CTTGGTCCCCAGGGGGCGGGG	0.652													-	50594774	G	-	50594774	7	5	1	1	0	1	0	1	0	0	0	0	4763	1000	35	0	437	0	DRGX	10	50594774	Frame_Shift_Del	DEL	G	TCGA-B7-5816-01A-21D-1600-08	1174776	50594774	84939973	772	772											
EGR2	1959	broad.mit.edu	37	chr10	64573280	64573280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagttgcgcatgcagatcCgacactggaagggcttatgc	13	9	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:64573280C>T	uc010qim.1	-	3	1272	c.1118G>A	c.(1117-1119)CGG>CAG	p.R373Q	EGR2_uc010qin.1_Missense_Mutation_p.R323Q|EGR2_uc001jmi.2_Missense_Mutation_p.R373Q|EGR2_uc010qio.1_Missense_Mutation_p.R386Q|EGR2_uc009xph.2_Missense_Mutation_p.R373Q	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	373	C2H2-type 2.				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CATGCAGATCCGACACTGGAA	0.617													T	64573280	C	T	64573280	3	4	1	1	0	0	0	0	1	0	0	0	4972	652	23	1	316	1	EGR2	10	64573280	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	13978506	64573280	70961467	773	773											
JMJD1C	221037	broad.mit.edu	37	chr10	64949203	64949203	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catagtccgtccacttttgcTactctattaaggaaaaaaca	5	10	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:64949203T>C	uc001jmn.2	-	18	6595	c.6295A>G	c.(6295-6297)AGC>GGC	p.S2099G	JMJD1C_uc001jml.2_Missense_Mutation_p.S1862G|JMJD1C_uc001jmm.2_Missense_Mutation_p.S1811G|JMJD1C_uc010qiq.1_Missense_Mutation_p.S1917G|JMJD1C_uc009xpi.2_Missense_Mutation_p.S1917G|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_Missense_Mutation_p.S6G	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	2099					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCACTTTTGCTACTCTATTAA	0.303													C	64949203	T	C	64949203	3	2	1	1	0	0	0	0	1	0	0	0	7950	1522	53	3	1363	3	JMJD1C	10	64949203	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	375923	64949203	70585544	774	774											
STOX1	219736	broad.mit.edu	37	chr10	70645584	70645584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttggattacccagttggcGtgaaccctttaagacaagct	9	9	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:70645584G>A	uc001jos.2	+	3	2119	c.2032G>A	c.(2032-2034)GTG>ATG	p.V678M	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.V568M	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	678						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2						CCCAGTTGGCGTGAACCCTTT	0.423													A	70645584	G	A	70645584	3	1	1	1	0	0	0	0	1	0	0	0	15318	1145	40	1	2042	1	STOX1	10	70645584	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	5696381	70645584	64889163	775	775											
SUPV3L1	6832	broad.mit.edu	37	chr10	70949034	70949034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttttaggtacccagatgCtagagccatgcagcggaaga	12	8	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:70949034C>T	uc001jpe.1	+	5	639	c.584C>T	c.(583-585)GCT>GTT	p.A195V	SUPV3L1_uc010qjd.1_Missense_Mutation_p.A64V	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 precursor	195	Helicase ATP-binding.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			urinary_tract(1)|ovary(1)	2						TACCCAGATGCTAGAGCCATG	0.403													T	70949034	C	T	70949034	3	4	1	1	0	0	0	0	1	0	0	0	15399	797	28	2	602	2	SUPV3L1	10	70949034	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	303450	70949034	64585713	776	776											
PLA2G12B	84647	broad.mit.edu	37	chr10	74700992	74700992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatcgagtggagacaccatCggaattttgcatcacagcga	11	9	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:74700992C>T	uc001jtf.1	-	3	468	c.401G>A	c.(400-402)CGA>CAA	p.R134Q	PLA2G12B_uc009xqt.1_Missense_Mutation_p.R44Q|PLA2G12B_uc010qjz.1_Missense_Mutation_p.R134Q	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB precursor	134					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			ovary(1)	1	Prostate(51;0.0198)					GAGACACCATCGGAATTTTGC	0.502													T	74700992	C	T	74700992	3	4	1	1	0	0	0	0	1	0	0	0	11991	884	31	1	194	1	PLA2G12B	10	74700992	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3751958	74700992	60833755	777	777											
USP54	159195	broad.mit.edu	37	chr10	75280778	75280778	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggacctctcaaagccgtcActcctccctgaaagggccag	10	15	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:75280778A>G	uc001juo.2	-	16	2387	c.2370T>C	c.(2368-2370)AGT>AGC	p.S790S	USP54_uc010qkk.1_Intron|USP54_uc001juk.2_Intron|USP54_uc001jul.2_Intron|USP54_uc001jum.2_RNA|USP54_uc001jun.2_Intron|USP54_uc001jup.2_Silent_p.S790S	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	790					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					CAAAGCCGTCACTCCTCCCTG	0.463													G	75280778	A	G	75280778	2	3	1	1	0	0	0	0	0	0	0	1	17082	156	6	3		3	USP54	10	75280778	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	579786	75280778	60253969	778	778											
FUT11	170384	broad.mit.edu	37	chr10	75533122	75533122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgacagaaaaactgtggCgtcccatgcacctgggcgct	11	12	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:75533122C>T	uc001jva.2	+	2	926	c.883C>T	c.(883-885)CGT>TGT	p.R295C	FUT11_uc001juy.1_3'UTR|FUT11_uc001juz.1_Missense_Mutation_p.R295C	NM_173540	NP_775811	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3)	295	Lumenal (Potential).				protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity				0	Prostate(51;0.0112)					AAAACTGTGGCGTCCCATGCA	0.532													T	75533122	C	T	75533122	3	4	1	1	0	0	0	0	1	0	0	0	6103	768	27	1	889	1	FUT11	10	75533122	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	252344	75533122	60001625	779	779											
NDST2	8509	broad.mit.edu	37	chr10	75565362	75565362	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgccaaagggggcttcGctcctgagggaaaagttcaa	12	10	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:75565362G>A	uc001jvk.2	-	8	2533	c.1729C>T	c.(1729-1731)CGA>TGA	p.R577*	NDST2_uc010qks.1_Nonsense_Mutation_p.R203*|NDST2_uc010qkt.1_Nonsense_Mutation_p.R454*|NDST2_uc001jvl.1_5'Flank|NDST2_uc009xro.2_Nonsense_Mutation_p.R203*|NDST2_uc010qku.1_Nonsense_Mutation_p.R452*	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	577	Lumenal (Potential).|Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1	Prostate(51;0.0112)					AGGGGGCTTCGCTCCTGAGGG	0.463													A	75565362	G	A	75565362	4	1	1	1	0	0	0	0	0	1	0	0	10256	1095	38	1	954	1	NDST2	10	75565362	Nonsense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	32240	75565362	59969385	780	780											
SAMD8	142891	broad.mit.edu	37	chr10	76910318	76910318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatcaactctgcattcgccGctggactaccaagcatgtag	8	12	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:76910318G>A	uc001jwx.1	+	2	135	c.32G>A	c.(31-33)CGC>CAC	p.R11H	SAMD8_uc001jwy.1_Missense_Mutation_p.R11H	NM_144660	NP_653261	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	11					sphingomyelin biosynthetic process	integral to membrane					0	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TGCATTCGCCGCTGGACTACC	0.433													A	76910318	G	A	76910318	3	1	1	1	0	0	0	0	1	0	0	0	13825	1087	38	1	34	1	SAMD8	10	76910318	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1344956	76910318	58624429	781	781											
CDHR1	92211	broad.mit.edu	37	chr10	85973847	85973847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctttcagaccctctccCggagccccatggctgccttc	7	18	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:85973847C>T	uc001kcv.2	+	17	2050	c.2050C>T	c.(2050-2052)CGG>TGG	p.R684W	CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Missense_Mutation_p.R388W|CDHR1_uc001kcx.2_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	684	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						GACCCTCTCCCGGAGCCCCAT	0.572													T	85973847	C	T	85973847	3	4	1	1	0	0	0	0	1	0	0	0	3118	643	23	1	2116	1	CDHR1	10	85973847	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	9063529	85973847	49560900	782	782											
GRID1	2894	broad.mit.edu	37	chr10	87898605	87898605	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaggagtgggctccctgtgGgctgagcagcaggatggcgc	19	9	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:87898605G>T	uc001kdl.1	-	4	798	c.697C>A	c.(697-699)CCA>ACA	p.P233T	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	233	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	GCTCCCTGTGGGCTGAGCAGC	0.612										Multiple Myeloma(13;0.14)			T	87898605	G	T	87898605	3	4	1	1	0	0	0	0	1	0	0	0	6771	1232	43	5	2384	5	GRID1	10	87898605	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1924758	87898605	47636142	783	783											
PTEN	5728	broad.mit.edu	37	chr10	89717770	89717771	+	Frame_Shift_Ins	INS	-	-	A													acaaacagaacaagatgctaINSaaaaaggtttgtactttact					rs121913289		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:89717769_89717770T>TA	uc001kfb.3	+	6	1826_1827	c.794_795T>TA	c.(793-795)ctafs	p.L265fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	265	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.K267fs*9(4)|p.M264fs*8(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.D268fs*30(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AACAAGATGCTAAAAAAGGTTT	0.347		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89717771	-	A	89717770	7	5	1	1	0	1	1	0	0	0	0	0	12738	349	13	0	821	0	PTEN	10	89717770	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	1819165	89717770	45816977	784	784											
BTAF1	9044	broad.mit.edu	37	chr10	93749219	93749219	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtgcacaacaaggacGccctgtcccaattcaaaaat	7	13	1	0	rs142341012		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:93749219G>A	uc001khr.2	+	20	2834	c.2736G>A	c.(2734-2736)ACG>ACA	p.T912T	BTAF1_uc001khs.1_Silent_p.T582T|BTAF1_uc001kht.1_Silent_p.T350T	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	912					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				CAACAAGGACGCCCTGTCCCA	0.403													A	93749219	G	A	93749219	2	1	1	1	0	0	0	0	0	0	0	1	1536	1074	38	1		1	BTAF1	10	93749219	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	4031449	93749219	41785528	785	785											
PLCE1	51196	broad.mit.edu	37	chr10	95790896	95790896	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagatgaaagtagtgaAaaggtctcagacatcaatat	10	6	2	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:95790896A>G	uc001kjk.2	+	2	727	c.93A>G	c.(91-93)GAA>GAG	p.E31E	PLCE1_uc010qnx.1_Silent_p.E31E	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	31					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				AAAGTAGTGAAAAGGTCTCAG	0.418													G	95790896	A	G	95790896	2	3	1	1	0	0	0	0	0	0	0	1	12034	11	1	3		3	PLCE1	10	95790896	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	2041677	95790896	39743851	786	786											
PLCE1	51196	broad.mit.edu	37	chr10	96084180	96084180	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactatgtgcttttggaagaGgtggtgaaagacactaccaa	12	6	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:96084180G>T	uc001kjk.2	+	31	7210	c.6576G>T	c.(6574-6576)GAG>GAT	p.E2192D	PLCE1_uc010qnx.1_Missense_Mutation_p.E2176D|PLCE1_uc001kjm.2_Missense_Mutation_p.E1884D|PLCE1_uc001kjp.2_Missense_Mutation_p.E550D	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	2192	Ras-associating 2.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				TTTTGGAAGAGGTGGTGAAAG	0.463													T	96084180	G	T	96084180	3	4	1	1	0	0	0	0	1	0	0	0	12034	991	35	5	6980	5	PLCE1	10	96084180	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	293284	96084180	39450567	787	787											
SORBS1	10580	broad.mit.edu	37	chr10	97135731	97135731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagctattaaacttaccGgtttcccaaactccaattcc	4	13	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:97135731G>A	uc001kkp.2	-	17	1781	c.1736C>T	c.(1735-1737)CCG>CTG	p.P579L	SORBS1_uc001kkk.2_Intron|SORBS1_uc001kkl.2_Missense_Mutation_p.P181L|SORBS1_uc001kkn.2_Missense_Mutation_p.P366L|SORBS1_uc001kkm.2_Missense_Mutation_p.P435L|SORBS1_uc001kko.2_Missense_Mutation_p.P601L|SORBS1_uc001kkq.2_Missense_Mutation_p.P464L|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Missense_Mutation_p.P533L|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	579					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TAAACTTACCGGTTTCCCAAA	0.373													A	97135731	G	A	97135731	3	1	1	1	0	0	0	0	1	0	0	0	14927	1130	39	1	2266	1	SORBS1	10	97135731	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1051551	97135731	38399016	788	788											
ENTPD1	953	broad.mit.edu	37	chr10	97599483	97599483	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgcgggttcttctcacacAagtttatacatctataagtg	8	8	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:97599483A>G	uc001klh.3	+	3	504	c.180A>G	c.(178-180)ACA>ACG	p.T60T	ENTPD1_uc001kle.1_Silent_p.T67T|ENTPD1_uc001kli.3_Silent_p.T67T|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Silent_p.T72T|ENTPD1_uc010qok.1_5'UTR|ENTPD1_uc010qol.1_5'UTR|ENTPD1_uc010qom.1_Silent_p.T60T|ENTPD1_uc010qon.1_5'UTR|ENTPD1_uc009xva.2_Intron|ENTPD1_uc009xuz.2_RNA	NM_001776	NP_001767	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	60	Extracellular (Potential).				cell adhesion	integral to plasma membrane	ATP binding			ovary(3)	3		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		CTTCTCACACAAGTTTATACA	0.428													G	97599483	A	G	97599483	2	3	1	1	0	0	0	0	0	0	0	1	5138	117	5	3		3	ENTPD1	10	97599483	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	463752	97599483	37935264	789	789											
PIK3AP1	118788	broad.mit.edu	37	chr10	98362066	98362066	+	Frame_Shift_Del	DEL	G	G	-													gcagctctcggaggcaccctGgggggtctctcgagggacat							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:98362065_98362065TG>T	uc001kmq.3	-	15	2460	c.2332_2332CA>A	c.(2332-2334)aggfs	p.R778fs	PIK3AP1_uc001kmo.3_Frame_Shift_Del_p.R377fs|PIK3AP1_uc001kmp.3_Frame_Shift_Del_p.R600fs	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	778	Pro-rich.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GGAGGCACCCTGGGGGGTCTC	0.517													-	98362066	G	-	98362066	7	5	1	1	0	1	0	1	0	0	0	0	11908	1335	47	0	94	0	PIK3AP1	10	98362066	Frame_Shift_Del	DEL	G	TCGA-B7-5816-01A-21D-1600-08	762583	98362066	37172681	790	790											
PIK3AP1	118788	broad.mit.edu	37	chr10	98469667	98469667	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgactggacaggaacagGgtctgcaggtactggcacca	14	11	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:98469667G>A	uc001kmq.2	-	2	215	c.87C>T	c.(85-87)ACC>ACT	p.T29T		NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	29						cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ACAGGAACAGGGTCTGCAGGT	0.597													A	98469667	G	A	98469667	2	1	1	1	0	0	0	0	0	0	0	1	11908	1219	43	4		4	PIK3AP1	10	98469667	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	107601	98469667	37065080	791	791											
SLIT1	6585	broad.mit.edu	37	chr10	98820480	98820480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgatgccattgctgcaggtGcacatggccgggcaggagcc	15	12	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:98820480G>A	uc001kmw.2	-	9	1110	c.858C>T	c.(856-858)TGC>TGT	p.C286C	SLIT1_uc009xvh.1_Silent_p.C286C	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	286	LRRNT 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGCTGCAGGTGCACATGGCCG	0.662													A	98820480	G	A	98820480	2	1	1	1	0	0	0	0	0	0	0	1	14739	1311	46	2		2	SLIT1	10	98820480	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	350813	98820480	36714267	792	792											
ABCC2	1244	broad.mit.edu	37	chr10	101606727	101606727	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcacttgcaggaccccatcCtgttctctggaagcctgagg	10	13	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:101606727C>A	uc001kqf.2	+	30	4295	c.4156C>A	c.(4156-4158)CTG>ATG	p.L1386M		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	1386	Cytoplasmic (By similarity).|ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGACCCCATCCTGTTCTCTGG	0.532													A	101606727	C	A	101606727	3	1	1	1	0	0	0	0	1	0	0	0	53	680	24	5	4274	5	ABCC2	10	101606727	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2786247	101606727	33928020	793	793											
PAX2	5076	broad.mit.edu	37	chr10	102586780	102586780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagggagcgagttctccGgcaacccgtacagccacccc	11	18	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:102586780G>A	uc001krk.3	+	10	1655	c.1105G>A	c.(1105-1107)GGC>AGC	p.G369S	PAX2_uc001krl.3_Silent_p.P373P|PAX2_uc001krm.3_Missense_Mutation_p.G369S|PAX2_uc001kro.3_Missense_Mutation_p.G346S|PAX2_uc001krn.3_Missense_Mutation_p.G346S|PAX2_uc010qps.1_Missense_Mutation_p.G345S	NM_003990	NP_003981	Q02962	PAX2_HUMAN	paired box protein 2 isoform e	369					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity				0		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CGAGTTCTCCGGCAACCCGTA	0.682													A	102586780	G	A	102586780	3	1	1	1	0	0	0	0	1	0	0	0	11479	1116	39	1	1230	1	PAX2	10	102586780	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	980053	102586780	32947967	794	794											
SFXN3	81855	broad.mit.edu	37	chr10	102795320	102795320	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaagtatgtgtatgactcCgccttccatccggacacagg	10	13	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:102795320C>T	uc001ksp.2	+	4	696	c.240C>T	c.(238-240)TCC>TCT	p.S80S	SFXN3_uc001ksq.2_Silent_p.S80S|SFXN3_uc010qpx.1_Silent_p.S80S	NM_030971	NP_112233	Q9BWM7	SFXN3_HUMAN	sideroflexin 3	80					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TGTATGACTCCGCCTTCCATC	0.597													T	102795320	C	T	102795320	2	4	1	1	0	0	0	0	0	0	0	1	14196	639	23	1		1	SFXN3	10	102795320	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	208540	102795320	32739427	795	795											
CUEDC2	79004	broad.mit.edu	37	chr10	104184490	104184490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttctcctctgatgggcccGaggggcccaggtcctccagg	14	14	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:104184490G>A	uc001kvn.2	-	3	285	c.134C>T	c.(133-135)TCG>TTG	p.S45L	CUEDC2_uc001kvm.2_5'Flank	NM_024040	NP_076945	Q9H467	CUED2_HUMAN	CUE domain containing 2	45						cytoplasm|nucleus	protein binding				0		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGATGGGCCCGAGGGGCCCAG	0.587													A	104184490	G	A	104184490	3	1	1	1	0	0	0	0	1	0	0	0	4053	1059	37	1	757	1	CUEDC2	10	104184490	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1389170	104184490	31350257	796	796											
PDCD11	22984	broad.mit.edu	37	chr10	105177579	105177579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcgtattgaactgtgagCcatccaaagagaggatgctc	11	8	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:105177579C>T	uc001kwy.1	+	14	1888	c.1801C>T	c.(1801-1803)CCA>TCA	p.P601S		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	601	S1 motif 6.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GAACTGTGAGCCATCCAAAGA	0.522													T	105177579	C	T	105177579	3	4	1	1	0	0	0	0	1	0	0	0	11617	739	26	2	1851	2	PDCD11	10	105177579	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	993089	105177579	30357168	797	797											
SORCS3	22986	broad.mit.edu	37	chr10	106976777	106976777	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttcagccccatcgaggaCggcatcaagcacgtgtataa	9	12	2	0	rs143982937	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:106976777C>T	uc001kyi.1	+	19	2858	c.2631C>T	c.(2629-2631)GAC>GAT	p.D877D	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	877	PKD.|Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCATCGAGGACGGCATCAAGC	0.527													T	106976777	C	T	106976777	2	4	1	1	0	0	0	0	0	0	0	1	14932	535	19	1		1	SORCS3	10	106976777	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1799198	106976777	28557970	798	798											
PDCD4	27250	broad.mit.edu	37	chr10	112647631	112647631	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaattagcactggatactcCtagagcaccacaggtttgta	9	9	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:112647631C>A	uc001kzh.2	+	6	1007	c.764C>A	c.(763-765)CCT>CAT	p.P255H	PDCD4_uc001kzg.2_Missense_Mutation_p.P244H|PDCD4_uc010qre.1_Missense_Mutation_p.P241H	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	programmed cell death 4 isoform 1	255	MI 1.			P->A: Reduced inhibition of EIF4A1 helicase activity. Strongly reduced inhibition of translation.	apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			ovary(1)|breast(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTGGATACTCCTAGAGCACCA	0.358													A	112647631	C	A	112647631	3	1	1	1	0	0	0	0	1	0	0	0	11621	681	24	5	796	5	PDCD4	10	112647631	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	5670854	112647631	22887116	799	799											
BAG3	9531	broad.mit.edu	37	chr10	121436448	121436448	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgaagagtatttgaccaaagAgctgctggccctggattcag	12	9	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:121436448A>T	uc001lem.2	+	4	1688	c.1382A>T	c.(1381-1383)GAG>GTG	p.E461V	BAG3_uc001lel.2_Missense_Mutation_p.E460V	NM_004281	NP_004272	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	461	BAG.				anti-apoptosis|apoptosis|protein folding	cytosol				ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		TTGACCAAAGAGCTGCTGGCC	0.522													T	121436448	A	T	121436448	3	4	1	1	0	0	0	0	1	0	0	0	1288	304	11	5	1396	5	BAG3	10	121436448	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	8788817	121436448	14098299	800	800											
INPP5F	22876	broad.mit.edu	37	chr10	121541188	121541188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taattcggcagaaagcattgGtgggcaaactcccaggagac	12	9	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:121541188G>A	uc001leo.2	+	3	386	c.220G>A	c.(220-222)GTG>ATG	p.V74M	INPP5F_uc001len.3_Missense_Mutation_p.V74M	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	74							phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GAAAGCATTGGTGGGCAAACT	0.443													A	121541188	G	A	121541188	3	1	1	1	0	0	0	0	1	0	0	0	7758	1261	44	4	230	4	INPP5F	10	121541188	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	104740	121541188	13993559	801	801											
INPP5F	22876	broad.mit.edu	37	chr10	121587066	121587068	+	In_Frame_Del	DEL	CTC	CTC	-													agggcttcatgtaactccttCtccttcagagagcagtagca					rs148162878		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:121587065_121587067TCTC>T	uc001leo.3	+	19	3388_3390	c.3172_3174TCTC>T	c.(3172-3174)tct>T	p.S1058del	INPP5F_uc001lep.3_In_Frame_Del_p.S448del	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	1058							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TGTAACTCCTTCTCCTTCAGAGA	0.493													-	121587068	CTC	-	121587066	7	5	1	1	0	1	0	1	0	0	0	0	7758	913	32	0	3251	0	INPP5F	10	121587066	In_Frame_Del	DEL	CTC	TCGA-B7-5816-01A-21D-1600-08	45878	121587066	13947681	802	802											
C10orf88	80007	broad.mit.edu	37	chr10	124691943	124691943	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acactgtttatgttgagagcTtatctttctccatttgaaag	7	7	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:124691943T>G	uc001lgw.2	-	6	1563	c.1338A>C	c.(1336-1338)TAA>TAC	p.*446Y	C10orf88_uc001lgx.2_Nonstop_Mutation_p.*348Y	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	hypothetical protein LOC80007	446											0		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TGTTGAGAGCTTATCTTTCTC	0.343													G	124691943	T	G	124691943	4	3	1	1	0	0	0	0	0	0	0	0	1622	1616	56	5	3	5	C10orf88	10	124691943	Nonstop_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	3104877	124691943	10842804	803	803											
PSTK	118672	broad.mit.edu	37	chr10	124746960	124746960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacatcaagtgcagaagcGcaaaggttggctggttgcag	13	8	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:124746960G>A	uc001lgy.1	+	6	1428	c.988G>A	c.(988-990)GCA>ACA	p.A330T		NM_153336	NP_699167	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	330							ATP binding|kinase activity			liver(1)	1		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		gtgcagaagcgcaaaggttgg	0.01													A	124746960	G	A	124746960	3	1	1	1	0	0	0	0	1	0	0	0	12720	1087	38	1	1010	1	PSTK	10	124746960	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	55017	124746960	10787787	804	804											
CHST15	51363	broad.mit.edu	37	chr10	125804216	125804216	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctgccctatgatgtagaAgtgcggcaggcagcgcaggc	17	10	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:125804216A>G	uc001lhl.2	-	2	1279	c.766T>C	c.(766-768)TTC>CTC	p.F256L	CHST15_uc001lhm.2_Missense_Mutation_p.F256L|CHST15_uc001lhn.2_Missense_Mutation_p.F256L|CHST15_uc010que.1_Missense_Mutation_p.F256L|CHST15_uc001lho.2_Missense_Mutation_p.F256L	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	256	Lumenal (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						ATGATGTAGAAGTGCGGCAGG	0.657													G	125804216	A	G	125804216	3	3	1	1	0	0	0	0	1	0	0	0	3403	72	3	3	943	3	CHST15	10	125804216	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1057256	125804216	9730531	805	805											
LHPP	64077	broad.mit.edu	37	chr10	126205813	126205813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcggtgtggaatgagagCgctgcaggtgcgcaccggga	18	10	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:126205813C>T	uc001lhs.1	+	6	709	c.689C>T	c.(688-690)GCG>GTG	p.A230V	LHPP_uc001lht.1_Intron|LHPP_uc009yai.1_Intron	NM_022126	NP_071409	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic	230					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity				0		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		GGAATGAGAGCGCTGCAGGTG	0.552													T	126205813	C	T	126205813	3	4	1	1	0	0	0	0	1	0	0	0	8769	768	27	1	711	1	LHPP	10	126205813	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	401597	126205813	9328934	806	806											
ADAM12	8038	broad.mit.edu	37	chr10	127734632	127734632	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcctactcacccctctgcCgtggcactgcattgcacact	7	18	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:127734632C>A	uc001ljk.2	-	17	2409	c.1996G>T	c.(1996-1998)GGC>TGC	p.G666C	ADAM12_uc010qul.1_Missense_Mutation_p.G617C|ADAM12_uc001ljm.2_Missense_Mutation_p.G666C|ADAM12_uc001ljn.2_Missense_Mutation_p.G663C|ADAM12_uc001ljl.3_Missense_Mutation_p.G663C	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	666	Extracellular (Potential).|EGF-like.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		ACCCCTCTGCCGTGGCACTGC	0.433													A	127734632	C	A	127734632	3	1	1	1	0	0	0	0	1	0	0	0	236	652	23	5	869	5	ADAM12	10	127734632	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1528819	127734632	7800115	807	807											
FAM196A	642938	broad.mit.edu	37	chr10	128974248	128974248	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagaaacccattgttttggcTtttaaagggatctgcagctg	10	7	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:128974248T>C	uc001lju.1	-	1	453	c.412A>G	c.(412-414)AGC>GGC	p.S138G	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.S138G|FAM196A_uc001ljv.1_Missense_Mutation_p.S138G|FAM196A_uc009yap.1_Missense_Mutation_p.S138G	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	138										ovary(2)	2						TTGTTTTGGCTTTTAAAGGGA	0.567													C	128974248	T	C	128974248	3	2	1	1	0	0	0	0	1	0	0	0	5528	1609	56	3	1039	3	FAM196A	10	128974248	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1239616	128974248	6560499	808	808											
KNDC1	85442	broad.mit.edu	37	chr10	135020704	135020704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgatcgtgaacatcgcgGccgcaccctgcgacacgctg	12	15	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:135020704G>A	uc001llz.1	+	20	3644	c.3643G>A	c.(3643-3645)GCC>ACC	p.A1215T	KNDC1_uc001lma.1_3'UTR	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1215					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAACATCGCGGCCGCACCCTG	0.677													A	135020704	G	A	135020704	3	1	1	1	0	0	0	0	1	0	0	0	8426	1203	42	2	3721	2	KNDC1	10	135020704	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	6046456	135020704	514043	809	809											
ANO9	338440	broad.mit.edu	37	chr11	420541	420541	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccaggcggatctccacgaGgttgctgaagagcgcgagca	15	11	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:420541G>T	uc001lpi.2	-	19	1793	c.1708C>A	c.(1708-1710)CTC>ATC	p.L570I	ANO9_uc001lph.2_Missense_Mutation_p.L263I|ANO9_uc010qvv.1_Missense_Mutation_p.L426I	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	570	Helical; (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						ATCTCCACGAGGTTGCTGAAG	0.682													T	420541	G	T	420541	3	4	1	1	0	0	0	0	1	0	0	0	704	1000	35	5	660	5	ANO9	11	420541	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08		420541	134585975	810	810											
ANO9	338440	broad.mit.edu	37	chr11	428382	428382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacaaagcttcagggccaCgcacctgttgatctgcggag	12	12	3	1	rs139493381	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:428382C>T	uc001lpi.2	-	14	1283	c.1198G>A	c.(1198-1200)GTG>ATG	p.V400M	ANO9_uc001lph.2_Missense_Mutation_p.V93M|ANO9_uc010qvv.1_Missense_Mutation_p.V256M	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	400	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						TTCAGGGCCACGCACCTGTTG	0.687													T	428382	C	T	428382	3	4	1	1	0	0	0	0	1	0	0	0	704	536	19	1	1190	1	ANO9	11	428382	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	7841	428382	134578134	811	811											
ANO9	338440	broad.mit.edu	37	chr11	428757	428757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgaggatgacggtgctgcGtaggtaggagtgctggtatg	19	5	0	1	rs140961109	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:428757G>A	uc001lpi.2	-	12	1070	c.985C>T	c.(985-987)CGC>TGC	p.R329C	ANO9_uc001lph.2_Missense_Mutation_p.R22C|ANO9_uc010qvv.1_Missense_Mutation_p.R185C	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	329	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						ACGGTGCTGCGTAGGTAGGAG	0.652													A	428757	G	A	428757	3	1	1	1	0	0	0	0	1	0	0	0	704	1145	40	1	1411	1	ANO9	11	428757	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	375	428757	134577759	812	812											
MUC6	4588	broad.mit.edu	37	chr11	1025196	1025196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtacctgggaggcacgggCgatcctgatgaggatggtca	17	9	1	2	rs146061704	by1000genomes	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:1025196C>T	uc001lsw.2	-	23	3022	c.2971G>A	c.(2971-2973)GCC>ACC	p.A991T		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	991	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGGCACGGGCGATCCTGATG	0.667													T	1025196	C	T	1025196	3	4	1	1	0	0	0	0	1	0	0	0	9980	768	27	1	4392	1	MUC6	11	1025196	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	596439	1025196	133981320	813	813											
MUC5B	727897	broad.mit.edu	37	chr11	1261544	1261544	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggctgtggcatgtccTggaactccagccacaacgcc	12	13	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:1261544T>G	uc009ycr.1	+	46	6114	c.5988T>G	c.(5986-5988)CCT>CCG	p.P1996P	MUC5B_uc001ltb.2_Silent_p.P1306P|MUC5B_uc001lta.2_Silent_p.P971P	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1303					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGGCATGTCCTGGAACTCCAG	0.607													G	1261544	T	G	1261544	2	3	1	1	0	0	0	0	0	0	0	1	9979	1567	55	5		5	MUC5B	11	1261544	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	236348	1261544	133744972	814	814											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629000	1629002	+	In_Frame_Del	DEL	AGC	AGC	-													ggatgacccacagcctgaggAgcagcagcagggcttacagc							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:1628999_1629001GAGC>G	uc001ltw.1	-	0	693_695	c.615_617GCTC>C	c.(613-618)tgctcc>tgCc	p.S207del	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	207	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		acagcctgaggagcagcagcagg	0.616													-	1629002	AGC	-	1629000	7	5	1	1	0	1	0	1	0	0	0	0	8562	304	11	0	104	0	KRTAP5-3	11	1629000	In_Frame_Del	DEL	AGC	TCGA-B7-5816-01A-21D-1600-08	367456	1629000	133377516	815	815											
INS-IGF2	723961	broad.mit.edu	37	chr11	2170469	2170469	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctggacgatgatccgccGgcctggccaatattagcagt	12	12	0	1	rs78341923	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:2170469G>A	uc001lvm.2	-	3	353	c.294C>T	c.(292-294)GCC>GCT	p.A98A	IGF2_uc001lvh.2_5'UTR|INS-IGF2_uc001lvi.2_RNA	NM_001042376	NP_001035835	Q1WM24	Q1WM24_HUMAN	insulin- insulin-like growth factor 2	98					glucose metabolic process	extracellular region	hormone activity				0		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		ATGATCCGCCGGCCTGGCCAA	0.632													A	2170469	G	A	2170469	2	1	1	1	0	0	0	0	0	0	0	1	7763	1103	39	1		1	INS-IGF2	11	2170469	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	541469	2170469	132836047	816	816											
INS-IGF2	723961	broad.mit.edu	37	chr11	2170496	2170496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaatattagcagtcaccacCaaagcagggggtgccctggc	11	13	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:2170496C>T	uc001lvm.2	-	3	326	c.267G>A	c.(265-267)TTG>TTA	p.L89L	IGF2_uc001lvh.2_5'UTR|INS-IGF2_uc001lvi.2_RNA	NM_001042376	NP_001035835	Q1WM24	Q1WM24_HUMAN	insulin- insulin-like growth factor 2	89					glucose metabolic process	extracellular region	hormone activity				0		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		CAGTCACCACCAAAGCAGGGG	0.607													T	2170496	C	T	2170496	2	4	1	1	0	0	0	0	0	0	0	1	7763	593	21	4		4	INS-IGF2	11	2170496	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	27	2170496	132836020	817	817											
CARS	833	broad.mit.edu	37	chr11	3028185	3028185	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgagctgcagaatctcAgggactgtaggagaagcaga	14	8	1	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:3028185A>G	uc001lxh.2	-	18	1898	c.1824T>C	c.(1822-1824)CCT>CCC	p.P608P	CARS_uc009ydu.2_RNA|CARS_uc001lxe.2_Silent_p.P598P|CARS_uc001lxf.2_Silent_p.P691P|CARS_uc001lxg.2_Silent_p.P608P|CARS_uc010qxo.1_Silent_p.P691P|CARS_uc010qxp.1_Silent_p.P621P	NM_001751	NP_001742	P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase isoform b	608					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding		CARS/ALK(5)	soft_tissue(5)|ovary(2)	7		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GCAGAATCTCAGGGACTGTAG	0.622			T	ALK	ALCL								G	3028185	A	G	3028185	2	3	1	1	0	0	0	0	0	0	0	1	2657	175	7	3		3	CARS	11	3028185	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	857689	3028185	131978331	818	818											
MRGPRE	116534	broad.mit.edu	37	chr11	3249900	3249900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagcagccagaggactgCcccattccccagcagcccac	10	18	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:3249900C>T	uc001lxq.3	-	2	437	c.127G>A	c.(127-129)GCA>ACA	p.A43T		NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	43	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGAGGACTGCCCCATTCCCC	0.642													T	3249900	C	T	3249900	3	4	1	1	0	0	0	0	1	0	0	0	9764	739	26	2	812	2	MRGPRE	11	3249900	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	221715	3249900	131756616	819	819											
PGAP2	27315	broad.mit.edu	37	chr11	3846621	3846621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacatggcgttccacatgaCggcctggtgggacttcggga	14	11	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:3846621C>T	uc001lys.2	+	7	1007	c.881C>T	c.(880-882)ACG>ATG	p.T294M	PGAP2_uc001lyl.2_Missense_Mutation_p.T251M|PGAP2_uc010qxw.1_Missense_Mutation_p.T351M|PGAP2_uc010qxx.1_3'UTR|PGAP2_uc001lyp.3_3'UTR|PGAP2_uc010qxy.1_Missense_Mutation_p.T286M|PGAP2_uc010qxz.1_Missense_Mutation_p.T290M|PGAP2_uc001lyn.3_3'UTR|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_3'UTR|PGAP2_uc010qyb.1_3'UTR|PGAP2_uc001lyt.2_Missense_Mutation_p.T77M	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	294					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0						TTCCACATGACGGCCTGGTGG	0.527											OREG0020703	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	3846621	C	T	3846621	3	4	1	1	0	0	0	0	1	0	0	0	11778	536	19	1	1082	1	PGAP2	11	3846621	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	596721	3846621	131159895	820	820											
OR51F1	256892	broad.mit.edu	37	chr11	4790663	4790663	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagaggcttaaggagcaaaAgtagtggcaatattagtact	12	4	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:4790663A>C	uc010qyl.1	-	1	485	c.485T>G	c.(484-486)CTT>CGT	p.L162R		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F,	162						integral to membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAGGAGCAAAAGTAGTGGCAA	0.398													C	4790663	A	C	4790663	3	2	1	1	0	0	0	0	1	0	0	0	11096	72	3	5	456	5	OR51F1	11	4790663	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	944042	4790663	130215853	821	821											
OR52R1	119695	broad.mit.edu	37	chr11	4824880	4824880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacacagatatgggaggaaCgtgtgctaaaagctttgagg	14	5	0	3	rs150778227		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:4824880C>T	uc010qym.1	-	1	968	c.968G>A	c.(967-969)CGT>CAT	p.R323H		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	244	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGGAGGAACGTGTGCTAAA	0.473													T	4824880	C	T	4824880	3	4	1	1	0	0	0	0	1	0	0	0	11131	536	19	1	219	1	OR52R1	11	4824880	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	34217	4824880	130181636	822	822											
OR51T1	401665	broad.mit.edu	37	chr11	4903923	4903923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctctctttggcacaccGcctcttccactccaccccaa	4	21	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:4903923G>A	uc010qyp.1	+	1	875	c.875G>A	c.(874-876)CGC>CAC	p.R292H		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T,	265	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGCACACCGCCTCTTCCAC	0.488													A	4903923	G	A	4903923	3	1	1	1	0	0	0	0	1	0	0	0	11106	1087	38	1	877	1	OR51T1	11	4903923	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	79043	4903923	130102593	823	823											
OR51V1	283111	broad.mit.edu	37	chr11	5221797	5221797	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aattgcccaaaagcaccatgGcatagattgaggagaagggg	13	7	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:5221797G>C	uc010qyz.1	-	1	134	c.134C>G	c.(133-135)GCC>GGC	p.A45G		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGCACCATGGCATAGATTGA	0.507													C	5221797	G	C	5221797	3	2	1	1	0	0	0	0	1	0	0	0	11107	1203	42	5	834	5	OR51V1	11	5221797	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	317874	5221797	129784719	824	824											
OR51M1	390059	broad.mit.edu	37	chr11	5410819	5410819	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgatcattattaagaccaAccctcgtctgcacacaccca	4	15	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:5410819A>C	uc010qzc.1	+	1	191	c.191A>C	c.(190-192)AAC>ACC	p.N64T	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M,	64						integral to membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTAAGACCAACCCTCGTCTG	0.473													C	5410819	A	C	5410819	3	2	1	1	0	0	0	0	1	0	0	0	11103	43	2	5	193	5	OR51M1	11	5410819	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	189022	5410819	129595697	825	825											
UBQLNL	143630	broad.mit.edu	37	chr11	5537570	5537570	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttgcctgcagtcttcacTatcactcgagtggcacttga	10	11	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:5537570T>C	uc001maz.3	-	1	387	c.102A>G	c.(100-102)ATA>ATG	p.I34M	HBG2_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	34	Ubiquitin-like.									large_intestine(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CAGTCTTCACTATCACTCGAG	0.488													C	5537570	T	C	5537570	3	2	1	1	0	0	0	0	1	0	0	0	16897	1512	53	3	1329	3	UBQLNL	11	5537570	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	126751	5537570	129468946	826	826											
OR52N5	390075	broad.mit.edu	37	chr11	5798944	5798944	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgacactcttgcgtatctgTtttgtctttactccataaac	5	10	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:5798944T>G	uc010qzn.1	-	1	921	c.921A>C	c.(919-921)AAA>AAC	p.K307N	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N,	307	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TGCGTATCTGTTTTGTCTTTA	0.388													G	5798944	T	G	5798944	3	3	1	1	0	0	0	0	1	0	0	0	11130	1722	60	5	57	5	OR52N5	11	5798944	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	261374	5798944	129207572	827	827											
OR52N5	390075	broad.mit.edu	37	chr11	5799070	5799070	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cggtgggcaaagaaagtgaaGaatgctggaacataggtgat	15	4	0	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:5799070G>T	uc010qzn.1	-	1	795	c.795C>A	c.(793-795)TTC>TTA	p.F265L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N,	265	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AGAAAGTGAAGAATGCTGGAA	0.483													T	5799070	G	T	5799070	3	4	1	1	0	0	0	0	1	0	0	0	11130	933	33	5	183	5	OR52N5	11	5799070	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	126	5799070	129207446	828	828											
CNGA4	1262	broad.mit.edu	37	chr11	6261352	6261352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggatctcgagtcgctacGttcgcacctggagtttcttc	11	11	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:6261352G>A	uc001mco.2	+	4	435	c.328G>A	c.(328-330)GTT>ATT	p.V110I	CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.V70I	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	110	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGTCGCTACGTTCGCACCTG	0.607													A	6261352	G	A	6261352	3	1	1	1	0	0	0	0	1	0	0	0	3599	1145	40	1	342	1	CNGA4	11	6261352	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	462282	6261352	128745164	829	829											
TAF10	6881	broad.mit.edu	37	chr11	6632238	6632238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggttagagtgtacttgCggtcctgagggaagagggaa	16	6	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:6632238C>T	uc001mej.1	-	5	597	c.572G>A	c.(571-573)CGC>CAC	p.R191H		NM_006284	NP_006275	Q12962	TAF10_HUMAN	TBP-related factor 10	191					histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTGTACTTGCGGTCCTGAGG	0.313													T	6632238	C	T	6632238	3	4	1	1	0	0	0	0	1	0	0	0	15511	768	27	1	88	1	TAF10	11	6632238	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	370886	6632238	128374278	830	830											
DCHS1	8642	broad.mit.edu	37	chr11	6650800	6650800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctccataagtcacttgccCgttggcccctgaggaggggc	13	14	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:6650800C>T	uc001mem.1	-	12	5454	c.5044G>A	c.(5044-5046)GGG>AGG	p.G1682R		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1682	Cadherin 16.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCACTTGCCCGTTGGCCCCT	0.557													T	6650800	C	T	6650800	3	4	1	1	0	0	0	0	1	0	0	0	4287	652	23	1	4892	1	DCHS1	11	6650800	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	18562	6650800	128355716	831	831											
OR2AG1	144125	broad.mit.edu	37	chr11	6807156	6807156	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagcctgaggaataaggaGgtcatgcgggccttgaggag	16	7	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:6807156G>A	uc001mer.1	+	1	888	c.888G>A	c.(886-888)GAG>GAA	p.E296E		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGAATAAGGAGGTCATGCGGG	0.507													A	6807156	G	A	6807156	2	1	1	1	0	0	0	0	0	0	0	1	10984	991	35	4		4	OR2AG1	11	6807156	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	156356	6807156	128199360	832	832											
OR10A5	144124	broad.mit.edu	37	chr11	6866973	6866973	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgagcttctcttccctAcctactgaaatacagtcatt	4	13	3	2	rs141353777		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:6866973A>G	uc001met.1	+	1	60	c.60A>G	c.(58-60)CTA>CTG	p.L20L		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTCTTCCCTACCTACTGAAA	0.428													G	6866973	A	G	6866973	2	3	1	1	0	0	0	0	0	0	0	1	10893	378	14	3		3	OR10A5	11	6866973	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	59817	6866973	128139543	833	833											
OR2D3	120775	broad.mit.edu	37	chr11	6942342	6942342	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgggtctttcacaggactTgcagacccagatcctgctat	9	13	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:6942342T>C	uc010rav.1	+	1	110	c.110T>C	c.(109-111)TTG>TCG	p.L37S		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	37	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCACAGGACTTGCAGACCCAG	0.423													C	6942342	T	C	6942342	3	2	1	1	0	0	0	0	1	0	0	0	10995	1821	63	3	112	3	OR2D3	11	6942342	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	75369	6942342	128064174	834	834											
CYB5R2	51700	broad.mit.edu	37	chr11	7690880	7690880	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataattaggtccacaaagccTctgtcatcatcactggagac	7	11	4	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:7690880T>C	uc001mfm.2	-	4	472	c.234A>G	c.(232-234)AGA>AGG	p.R78R	CYB5R2_uc001mfn.2_RNA|CYB5R2_uc009yfk.2_Silent_p.R78R|CYB5R2_uc009yfl.1_Silent_p.R78R	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase b5R.2	78	FAD-binding FR-type.				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity				0				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCACAAAGCCTCTGTCATCAT	0.483													C	7690880	T	C	7690880	2	2	1	1	0	0	0	0	0	0	0	1	4127	1548	54	3		3	CYB5R2	11	7690880	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	748538	7690880	127315636	835	835											
SCUBE2	57758	broad.mit.edu	37	chr11	9090944	9090944	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctctctggttcttggccaGctcaaaaccaggcctgcact	9	14	4	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:9090944G>A	uc001mhh.1	-	5	696	c.616C>T	c.(616-618)CTG>TTG	p.L206L	SCUBE2_uc001mhi.1_Silent_p.L206L|SCUBE2_uc001mhj.1_Silent_p.L206L	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	206	EGF-like 4 (Potential).					extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TTCTTGGCCAGCTCAAAACCA	0.582													A	9090944	G	A	9090944	2	1	1	1	0	0	0	0	0	0	0	1	13945	962	34	2		2	SCUBE2	11	9090944	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1400064	9090944	125915572	836	836											
AMPD3	272	broad.mit.edu	37	chr11	10500212	10500212	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggagccacttccctgcccAcgccagcaccctatgccatg	8	19	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:10500212A>C	uc001mio.1	+	3	696	c.361A>C	c.(361-363)ACG>CCG	p.T121P	AMPD3_uc010rbz.1_Intron|AMPD3_uc001min.1_Missense_Mutation_p.T130P|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Missense_Mutation_p.T121P|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.T128P|AMPD3_uc009yfy.2_Missense_Mutation_p.T121P	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	121					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TTCCCTGCCCACGCCAGCACC	0.617													C	10500212	A	C	10500212	3	2	1	1	0	0	0	0	1	0	0	0	587	159	6	5	418	5	AMPD3	11	10500212	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1409268	10500212	124506304	837	837											
ABCC8	6833	broad.mit.edu	37	chr11	17415246	17415246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcaatgggccccttaccgCgatggtgaccacagtgcggt	12	13	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:17415246C>T	uc001mnc.2	-	38	4732	c.4606G>A	c.(4606-4608)GCG>ACG	p.A1536T		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1536	Cytoplasmic (By similarity).|ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCCCTTACCGCGATGGTGACC	0.622													T	17415246	C	T	17415246	3	4	1	1	0	0	0	0	1	0	0	0	58	768	27	1	147	1	ABCC8	11	17415246	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	6915034	17415246	117591270	838	838											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955646	18955646	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actgaatgccaaagggcaggCcacagaggaggaagaccagt	14	9	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:18955646C>G	uc001mpg.2	-	1	904	c.686G>C	c.(685-687)GGC>GCC	p.G229A		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	229	Helical; Name=6; (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3						AAAGGGCAGGCCACAGAGGAG	0.488													G	18955646	C	G	18955646	3	3	1	1	0	0	0	0	1	0	0	0	9766	739	26	5	286	5	MRGPRX1	11	18955646	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1540400	18955646	116050870	839	839											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955974	18955974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaggacggacaggcagcGctcggtgctcacggcactca	13	15	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:18955974G>A	uc001mpg.2	-	1	576	c.358C>T	c.(358-360)CGC>TGC	p.R120C		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	120	Cytoplasmic (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3						GACAGGCAGCGCTCGGTGCTC	0.587													A	18955974	G	A	18955974	3	1	1	1	0	0	0	0	1	0	0	0	9766	1087	38	1	614	1	MRGPRX1	11	18955974	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	328	18955974	116050542	840	840											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077584	19077584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcagcgctcggtgctgacGgtgctcagcatgctcaggcc	15	13	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:19077584G>A	uc001mph.2	-	2	454	c.366C>T	c.(364-366)ACC>ACT	p.T122T		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	122	Cytoplasmic (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						CGGTGCTGACGGTGCTCAGCA	0.597													A	19077584	G	A	19077584	2	1	1	1	0	0	0	0	0	0	0	1	9767	1103	39	1		1	MRGPRX2	11	19077584	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	121610	19077584	115928932	841	841											
E2F8	79733	broad.mit.edu	37	chr11	19251862	19251862	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttgggaagggtgcagaattCtgagaactctcagctggtaa	13	7	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:19251862C>A	uc001mpm.2	-	9	1806	c.1284G>T	c.(1282-1284)CAG>CAT	p.Q428H	E2F8_uc009yhv.2_Intron|E2F8_uc001mpn.3_Missense_Mutation_p.Q428H	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	428					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						GTGCAGAATTCTGAGAACTCT	0.418													A	19251862	C	A	19251862	3	1	1	1	0	0	0	0	1	0	0	0	4873	912	32	5	1339	5	E2F8	11	19251862	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	174278	19251862	115754654	842	842											
E2F8	79733	broad.mit.edu	37	chr11	19256576	19256576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaactctctaggacgttcaCgatatcgtaaatgcgtcgac	8	10	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:19256576C>T	uc001mpm.2	-	5	1003	c.481G>A	c.(481-483)GTG>ATG	p.V161M	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.V161M	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	161	Potential.				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						AGGACGTTCACGATATCGTAA	0.423													T	19256576	C	T	19256576	3	4	1	1	0	0	0	0	1	0	0	0	4873	536	19	1	2158	1	E2F8	11	19256576	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	4714	19256576	115749940	843	843											
HTATIP2	10553	broad.mit.edu	37	chr11	20398193	20398193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggcaaaagctggagggtGcaaacatttcaacttgctat	11	8	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:20398193G>A	uc009yia.1	+	4	437	c.371G>A	c.(370-372)TGC>TAC	p.C124Y	HTATIP2_uc009yib.1_Missense_Mutation_p.C124Y|HTATIP2_uc001mpx.2_Missense_Mutation_p.C158Y|HTATIP2_uc001mpz.2_Missense_Mutation_p.C124Y	NM_006410	NP_006401	Q9BUP3	HTAI2_HUMAN	HIV-1 Tat interactive protein 2, 30kDa isoform	124					angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity				0						GCTGGAGGGTGCAAACATTTC	0.393													A	20398193	G	A	20398193	3	1	1	1	0	0	0	0	1	0	0	0	7432	1319	46	2	586	2	HTATIP2	11	20398193	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1141617	20398193	114608323	844	844											
NELL1	4745	broad.mit.edu	37	chr11	20940864	20940864	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatttacaagagcttttggCcaagatgactgcaaaagtag	11	6	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:20940864C>A	uc001mqe.2	+	7	896	c.743C>A	c.(742-744)GCC>GAC	p.A248D	NELL1_uc001mqf.2_Missense_Mutation_p.A248D|NELL1_uc009yid.2_Missense_Mutation_p.A276D|NELL1_uc010rdo.1_Missense_Mutation_p.A191D|NELL1_uc010rdp.1_Missense_Mutation_p.A8D	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	248					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						GAGCTTTTGGCCAAGATGACT	0.318													A	20940864	C	A	20940864	3	1	1	1	0	0	0	0	1	0	0	0	10333	739	26	5	769	5	NELL1	11	20940864	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	542671	20940864	114065652	845	845											
KIF18A	81930	broad.mit.edu	37	chr11	28104447	28104447	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaatcattaactttgcTtggtcattttcattagtgaa	6	5	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:28104447T>C	uc001msc.2	-	9	1400	c.1218A>G	c.(1216-1218)CAA>CAG	p.Q406Q		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	406	Potential.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			ovary(2)	2						TTAACTTTGCTTGGTCATTTT	0.264													C	28104447	T	C	28104447	2	2	1	1	0	0	0	0	0	0	0	1	8280	1606	56	3		3	KIF18A	11	28104447	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	7163583	28104447	106902069	846	846											
EIF3M	10480	broad.mit.edu	37	chr11	32615494	32615494	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctcgagttgatgcccacAggtaatgttaaacgttactc	10	9	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:32615494A>G	uc001mtu.2	+	6	659	c.616A>G	c.(616-618)AGG>GGG	p.R206G	EIF3M_uc010ref.1_Missense_Mutation_p.R74G	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3,	206						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)|breast(1)|skin(1)	3	Breast(20;0.109)					TGATGCCCACAGGTAATGTTA	0.403													G	32615494	A	G	32615494	3	3	1	1	0	0	0	0	1	0	0	0	5023	202	7	3	638	3	EIF3M	11	32615494	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	4511047	32615494	102391022	847	847											
EIF3M	10480	broad.mit.edu	37	chr11	32616545	32616545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtcaagtttttggaaggcGagcttattcatgatgtaagt	11	5	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:32616545G>A	uc001mtu.2	+	7	746	c.703G>A	c.(703-705)GAG>AAG	p.E235K	EIF3M_uc010ref.1_Missense_Mutation_p.E103K	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3,	235	PCI.					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)|breast(1)|skin(1)	3	Breast(20;0.109)					TTTGGAAGGCGAGCTTATTCA	0.323													A	32616545	G	A	32616545	3	1	1	1	0	0	0	0	1	0	0	0	5023	1059	37	1	729	1	EIF3M	11	32616545	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1051	32616545	102389971	848	848											
CSTF3	1479	broad.mit.edu	37	chr11	33163287	33163287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcgttcataagtcttccGtgctttgtctataggttgat	10	7	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:33163287G>A	uc001muh.2	-	3	317	c.151C>T	c.(151-153)CGG>TGG	p.R51W	CSTF3_uc001mui.2_Missense_Mutation_p.R51W|CSTF3_uc001muj.2_3'UTR	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	cleavage stimulation factor subunit 3 isoform 1	51	HAT 1.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding				0						TAAGTCTTCCGTGCTTTGTCT	0.249													A	33163287	G	A	33163287	3	1	1	1	0	0	0	0	1	0	0	0	3986	1144	40	1	2165	1	CSTF3	11	33163287	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	546742	33163287	101843229	849	849											
HSD17B12	51144	broad.mit.edu	37	chr11	43876298	43876298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcgtagctacaaaactgGctaaaatccggaagccaact	7	11	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:43876298G>A	uc001mxq.3	+	10	953	c.718G>A	c.(718-720)GCT>ACT	p.A240T		NM_016142	NP_057226	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	240					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity				0						TACAAAACTGGCTAAAATCCG	0.468													A	43876298	G	A	43876298	3	1	1	1	0	0	0	0	1	0	0	0	7381	1203	42	2	756	2	HSD17B12	11	43876298	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	10713011	43876298	91130218	850	850											
EXT2	2132	broad.mit.edu	37	chr11	44253919	44253919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaggtctggcgggaatttcCtgaccggttggtgggttacc	15	8	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:44253919C>T	uc001mxz.2	+	11	2013	c.1679C>T	c.(1678-1680)CCT>CTT	p.P560L	EXT2_uc010rfo.1_Missense_Mutation_p.P588L|EXT2_uc001mxy.2_Missense_Mutation_p.P573L|EXT2_uc009ykt.2_Missense_Mutation_p.P570L|EXT2_uc001mya.2_Missense_Mutation_p.P593L	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	560	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			lung(2)|breast(2)|skin(1)	5						CGGGAATTTCCTGACCGGTTG	0.478			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses				T	44253919	C	T	44253919	3	4	1	1	0	0	0	0	1	0	0	0	5324	681	24	4	1917	4	EXT2	11	44253919	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	377621	44253919	90752597	851	851											
PRDM11	56981	broad.mit.edu	37	chr11	45204461	45204461	+	Frame_Shift_Del	DEL	C	C	-													gatgaatgcccaaaccatggCcccccggtgtttgtgtctga							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:45204460_45204460GC>G	uc001myo.3	+	4	623	c.374_374GC>G	c.(373-375)ggcfs	p.G125fs		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	125								p.G125G(1)		endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCAAACCATGGCCCCCCGGTG	0.602													-	45204461	C	-	45204461	7	5	1	1	0	1	0	1	0	0	0	0	12452	726	26	0	389	0	PRDM11	11	45204461	Frame_Shift_Del	DEL	C	TCGA-B7-5816-01A-21D-1600-08	950542	45204461	89802055	852	852											
PTPRJ	5795	broad.mit.edu	37	chr11	48158582	48158582	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgtgtccaacattgatgTaagtaccaacaccacagcag	7	11	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:48158582T>C	uc001ngp.3	+	10	2256	c.1901T>C	c.(1900-1902)GTA>GCA	p.V634A	PTPRJ_uc010rhr.1_Missense_Mutation_p.V79A	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	634	Extracellular (Potential).|Fibronectin type-III 7.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						AACATTGATGTAAGTACCAAC	0.408													C	48158582	T	C	48158582	3	2	1	1	0	0	0	0	1	0	0	0	12804	1638	57	3	1948	3	PTPRJ	11	48158582	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	2954121	48158582	86847934	853	853											
OR4A15	81328	broad.mit.edu	37	chr11	55135841	55135841	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaagcctcttcatgaatTgatcaccatgaatcgtcgag	8	10	3	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:55135841T>C	uc010rif.1	+	1	482	c.482T>C	c.(481-483)TTG>TCG	p.L161S		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	161	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CTTCATGAATTGATCACCATG	0.418													C	55135841	T	C	55135841	3	2	1	1	0	0	0	0	1	0	0	0	11040	1821	63	3	484	3	OR4A15	11	55135841	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	6977259	55135841	79870675	854	854											
OR4P4	81300	broad.mit.edu	37	chr11	55406750	55406750	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgttgtcaaatactccTgaaaagaaatcaacttttct	7	7	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:55406750T>C	uc010rij.1	+	1	917	c.917T>C	c.(916-918)CTG>CCG	p.L306P		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P,	306	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						CAAATACTCCTGAAAAGAAAT	0.398													C	55406750	T	C	55406750	3	2	1	1	0	0	0	0	1	0	0	0	11080	1580	55	3	919	3	OR4P4	11	55406750	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	270909	55406750	79599766	855	855											
OR5D13	390142	broad.mit.edu	37	chr11	55541814	55541814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaggaacaaagatatcaatAacatgtttgaaaaattagtt	6	3	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:55541814A>G	uc010ril.1	+	1	901	c.901A>G	c.(901-903)AAC>GAC	p.N301D		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	301	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				AGATATCAATAACATGTTTGA	0.338													G	55541814	A	G	55541814	3	3	1	1	0	0	0	0	1	0	0	0	11154	362	13	3	903	3	OR5D13	11	55541814	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	135064	55541814	79464702	856	856											
OR5M9	390162	broad.mit.edu	37	chr11	56230449	56230449	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccatagacataaggcacagaGatgagccgaacacacacagt	9	11	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:56230449G>A	uc010rjj.1	-	1	429	c.429C>T	c.(427-429)ATC>ATT	p.I143I		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	143	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					AAGGCACAGAGATGAGCCGAA	0.438													A	56230449	G	A	56230449	2	1	1	1	0	0	0	0	0	0	0	1	11177	932	33	4		4	OR5M9	11	56230449	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	688635	56230449	78776067	857	857											
OR4D10	390197	broad.mit.edu	37	chr11	59245321	59245321	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactatcatgagtagagaccAttgcattgggctcacagtgg	12	8	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:59245321A>G	uc001nnz.1	+	1	419	c.419A>G	c.(418-420)CAT>CGT	p.H140R		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D,	140	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						AGTAGAGACCATTGCATTGGG	0.527													G	59245321	A	G	59245321	3	3	1	1	0	0	0	0	1	0	0	0	11054	217	8	3	421	3	OR4D10	11	59245321	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	3014872	59245321	75761195	858	858											
MS4A10	341116	broad.mit.edu	37	chr11	60565880	60565880	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcgcagaatgatgatgcAtgccttgttccgaatacacc	8	11	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:60565880A>G	uc001npz.1	+	7	711	c.615A>G	c.(613-615)GCA>GCG	p.A205A		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member	205	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(1)|skin(1)	2						ATGATGATGCATGCCTTGTTC	0.542													G	60565880	A	G	60565880	2	3	1	1	0	0	0	0	0	0	0	1	9855	204	8	3		3	MS4A10	11	60565880	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1320559	60565880	74440636	859	859											
TMEM109	79073	broad.mit.edu	37	chr11	60687309	60687309	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccaacagaagagagaAgccccagttgatgtcttgac	11	11	1	5			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:60687309A>C	uc001nqg.2	+	2	522	c.144A>C	c.(142-144)GAA>GAC	p.E48D	TMEM109_uc001nqh.2_Missense_Mutation_p.E48D	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	transmembrane protein 109 precursor	48						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane					0						AGAAGAGAGAAGCCCCAGTTG	0.557													C	60687309	A	C	60687309	3	2	1	1	0	0	0	0	1	0	0	0	16022	69	3	5	146	5	TMEM109	11	60687309	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	121429	60687309	74319207	860	860											
FEN1	2237	broad.mit.edu	37	chr11	61562938	61562938	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtaaggtggccattgatgcCtctatgagcatttatcagtt	10	8	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:61562938C>A	uc001nsg.2	+	2	477	c.105C>A	c.(103-105)GCC>GCA	p.A35A	C11orf10_uc001nsf.2_5'Flank|MIR611_hsa-mir-611|MI0003624_5'Flank	NM_004111	NP_004102	P39748	FEN1_HUMAN	flap structure-specific endonuclease 1	35	N-domain.				base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			ovary(1)	1						CCATTGATGCCTCTATGAGCA	0.532								Direct_reversal_of_damage|Editing_and_processing_nucleases					A	61562938	C	A	61562938	2	1	1	1	0	0	0	0	0	0	0	1	5812	668	24	5		5	FEN1	11	61562938	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	875629	61562938	73443578	861	861											
ROM1	6094	broad.mit.edu	37	chr11	62381819	62381819	+	Frame_Shift_Del	DEL	A	A	-													ctcaccccggccttgcctgcAaaaccgtctttcagactcct							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:62381818_62381818CA>C	uc001ntv.3	+	1	1220	c.679_679CA>C	c.(679-681)caafs	p.Q227fs	EML3_uc001ntr.1_5'Flank|EML3_uc001nts.1_5'Flank|EML3_uc001ntt.1_5'Flank|EML3_uc001ntu.1_5'Flank|EML3_uc010rly.1_5'Flank	NM_000327	NP_000318	Q03395	ROM1_HUMAN	Homo sapiens retinal outer segment membrane protein 1 (ROM1), mRNA.	227					cell adhesion|visual perception	integral to plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						GCCTTGCCTGCAAAACCGTCT	0.592													-	62381819	A	-	62381819	7	5	1	1	0	1	0	1	0	0	0	0	13521	130	5	0	686	0	ROM1	11	62381819	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	818881	62381819	72624697	862	862											
GANAB	23193	broad.mit.edu	37	chr11	62406583	62406583	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctctagcaccagcaacacCtgcggggacagaggtttgga	13	11	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:62406583C>A	uc001nub.2	-	4	286	c.253_splice	c.e4-1	p.V85_splice	GANAB_uc001nua.2_Splice_Site_p.V85_splice|GANAB_uc001nuc.2_Splice_Site|GANAB_uc010rma.1_Intron|GANAB_uc010rmb.1_Intron	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2						post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						CCAGCAACACCTGCGGGGACA	0.522													A	62406583	C	A	62406583	5	1	1	1	0	0	0	0	0	0	1	0	6233	695	24	5	2736	5	GANAB	11	62406583	Splice_Site	SNP	C	TCGA-B7-5816-01A-21D-1600-08	24764	62406583	72599933	863	863											
STIP1	10963	broad.mit.edu	37	chr11	63970612	63970612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagtcaagggttatacacGgaaagccgctgcgctggaag	14	8	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:63970612G>A	uc001nyk.1	+	12	1445	c.1298G>A	c.(1297-1299)CGG>CAG	p.R433Q	STIP1_uc010rnb.1_Missense_Mutation_p.R409Q	NM_006819	NP_006810	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	433	TPR 9.				axon guidance|response to stress	Golgi apparatus|nucleus				ovary(2)|liver(1)	3						GGTTATACACGGAAAGCCGCT	0.557													A	63970612	G	A	63970612	3	1	1	1	0	0	0	0	1	0	0	0	15284	1116	39	1	1344	1	STIP1	11	63970612	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1564029	63970612	71035904	864	864											
SLC25A45	283130	broad.mit.edu	37	chr11	65144459	65144459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcacgggcccctggtacCggggtggggggctccctggc	19	13	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:65144459C>T	uc001odp.1	-	5	850	c.428G>A	c.(427-429)CGG>CAG	p.R143Q	SLC25A45_uc009yqi.1_Missense_Mutation_p.R81Q|SLC25A45_uc001odq.1_Missense_Mutation_p.R119Q|SLC25A45_uc001odr.1_Missense_Mutation_p.R143Q|SLC25A45_uc001ods.1_Missense_Mutation_p.R101Q|SLC25A45_uc001odt.1_Missense_Mutation_p.R101Q	NM_001077241	NP_001070709	Q8N413	S2545_HUMAN	solute carrier family 25, member 45 isoform b	143	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						CCCCTGGTACCGGGGTGGGGG	0.667													T	65144459	C	T	65144459	3	4	1	1	0	0	0	0	1	0	0	0	14510	652	23	1	446	1	SLC25A45	11	65144459	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1173847	65144459	69862057	865	865											
KCNK7	10089	broad.mit.edu	37	chr11	65360998	65360998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggggtgcaggctgcggcCgcggccgggcagcaagtcct	18	14	0	0	rs78054727	by1000genomes	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:65360998C>T	uc001oes.2	-	2	891	c.667G>A	c.(667-669)GGC>AGC	p.G223S	KCNK7_uc001oeq.2_Missense_Mutation_p.G223S|KCNK7_uc001oer.2_Missense_Mutation_p.G223S|KCNK7_uc001oeu.2_Missense_Mutation_p.G223S	NM_033347	NP_203133	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7 isoform	223						integral to membrane	potassium channel activity|voltage-gated ion channel activity				0						AGGCTGCGGCCGCGGCCGGGC	0.657													T	65360998	C	T	65360998	3	4	1	1	0	0	0	0	1	0	0	0	8071	652	23	1	365	1	KCNK7	11	65360998	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	216539	65360998	69645518	866	866											
MAP3K11	4296	broad.mit.edu	37	chr11	65375502	65375502	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcaatgccacggtatggCacctccccggtcagcagttc	10	15	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:65375502C>T	uc001oew.2	-	3	1453	c.960G>A	c.(958-960)GTG>GTA	p.V320V	MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Silent_p.V63V|MAP3K11_uc001oex.1_5'UTR	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	320	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						CACGGTATGGCACCTCCCCGG	0.602													T	65375502	C	T	65375502	2	4	1	1	0	0	0	0	0	0	0	1	9245	697	25	2		2	MAP3K11	11	65375502	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	14504	65375502	69631014	867	867											
EFEMP2	30008	broad.mit.edu	37	chr11	65637348	65637348	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactgcaggagaagccatccCgatgcagctcatagccctgg	11	14	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:65637348C>A	uc001ofy.3	-	7	901	c.707G>T	c.(706-708)CGG>CTG	p.R236L	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.R236L	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	236	EGF-like 4; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		GAAGCCATCCCGATGCAGCTC	0.607													A	65637348	C	A	65637348	3	1	1	1	0	0	0	0	1	0	0	0	4942	652	23	5	644	5	EFEMP2	11	65637348	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	261846	65637348	69369168	868	868											
SART1	9092	broad.mit.edu	37	chr11	65746365	65746365	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctacatcgtgctcagcggCagcggcaagagcatgaacgc	12	14	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:65746365C>A	uc001ogl.2	+	19	2456	c.2364C>A	c.(2362-2364)GGC>GGA	p.G788G		NM_005146	NP_005137	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T	788					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				ovary(1)	1						TGCTCAGCGGCAGCGGCAAGA	0.537													A	65746365	C	A	65746365	2	1	1	1	0	0	0	0	0	0	0	1	13846	697	25	5		5	SART1	11	65746365	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	109017	65746365	69260151	869	869											
SF3B2	10992	broad.mit.edu	37	chr11	65824848	65824848	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagatgagaacagagaggTgagactgatgatttattcct	13	4	0	6			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:65824848T>C	uc001ogy.1	+	7	817	c.777_splice	c.e7+2	p.E259_splice		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2						interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						AACAGAGAGGTGAGACTGATG	0.537													C	65824848	T	C	65824848	5	2	1	1	0	0	0	0	0	0	1	0	14151	1710	59	3	805	3	SF3B2	11	65824848	Splice_Site	SNP	T	TCGA-B7-5816-01A-21D-1600-08	78483	65824848	69181668	870	870											
RBM4	5936	broad.mit.edu	37	chr11	66411054	66411054	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatagatcgttcaggccgCgtggcagacttgaccgagca	13	12	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:66411054C>T	uc009yrj.2	+	3	1034	c.546C>T	c.(544-546)CGC>CGT	p.R182R	RBM4_uc009yrk.2_Silent_p.R157R|RBM4_uc001oiw.1_Silent_p.R182R|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Silent_p.R182R|RBM4_uc001oiz.1_Silent_p.R182R	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	182					circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		GTTCAGGCCGCGTGGCAGACT	0.557													T	66411054	C	T	66411054	2	4	1	1	0	0	0	0	0	0	0	1	13134	755	27	1		1	RBM4	11	66411054	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	586206	66411054	68595462	871	871											
LRP5	4041	broad.mit.edu	37	chr11	68197061	68197061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcccacccatgtgcccGtgacaatggtggctgctccc	11	16	0	1	rs143924910		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:68197061G>A	uc001ont.2	+	17	3731	c.3656G>A	c.(3655-3657)CGT>CAT	p.R1219H	LRP5_uc009ysg.2_Missense_Mutation_p.R629H	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1219	EGF-like 4.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CCATGTGCCCGTGACAATGGT	0.582													A	68197061	G	A	68197061	3	1	1	1	0	0	0	0	1	0	0	0	8960	1145	40	1	3722	1	LRP5	11	68197061	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1786007	68197061	66809455	872	872											
IGHMBP2	3508	broad.mit.edu	37	chr11	68704492	68704492	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcgcgcaggggcagccCgccagcaaggagcagcaggc	18	13	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:68704492C>T	uc001ook.1	+	13	2646	c.2544C>T	c.(2542-2544)CCC>CCT	p.P848P	IGHMBP2_uc001ool.1_Silent_p.P472P|IGHMBP2_uc001oom.1_Silent_p.P426P	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	848	Gln/Pro-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGGGGCAGCCCGCCAGCAAGG	0.582													T	68704492	C	T	68704492	2	4	1	1	0	0	0	0	0	0	0	1	7591	639	23	1		1	IGHMBP2	11	68704492	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	507431	68704492	66302024	873	873											
INPPL1	3636	broad.mit.edu	37	chr11	71942235	71942235	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatctggattaccgcccggTgagggggggtcatcttgtcc	16	10	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:71942235T>C	uc001osf.2	+	12	1644	c.1497_splice	c.e12+2	p.P499_splice	INPPL1_uc001osg.2_Splice_Site_p.P257_splice	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1						actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						TACCGCCCGGTGAGGGGGGGT	0.602													C	71942235	T	C	71942235	5	2	1	1	0	0	0	0	0	0	1	0	7761	1710	59	3	1545	3	INPPL1	11	71942235	Splice_Site	SNP	T	TCGA-B7-5816-01A-21D-1600-08	3237743	71942235	63064281	874	874											
P2RY6	5031	broad.mit.edu	37	chr11	73008170	73008170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactgtcatcggcttcctgCtgccctttgctgccctgctg	9	16	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:73008170C>T	uc001otm.2	+	4	1012	c.607C>T	c.(607-609)CTG>TTG	p.L203L	P2RY6_uc001otn.2_Silent_p.L203L|P2RY6_uc001oto.2_Silent_p.L203L|P2RY6_uc001otp.2_Silent_p.L203L|P2RY6_uc001otq.2_Silent_p.L203L|P2RY6_uc001otr.2_Silent_p.L203L|P2RY6_uc001ots.2_Silent_p.L203L	NM_176796	NP_789766	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y6	203	Helical; Name=5; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1						CGGCTTCCTGCTGCCCTTTGC	0.657													T	73008170	C	T	73008170	2	4	1	1	0	0	0	0	0	0	0	1	11354	796	28	2		2	P2RY6	11	73008170	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1065935	73008170	61998346	875	875											
MAP6	4135	broad.mit.edu	37	chr11	75298700	75298700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggactatgggaccttcacCcttgacaggtgctgggacta	13	10	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:75298700C>T	uc001owu.2	-	4	1911	c.1846G>A	c.(1846-1848)GGT>AGT	p.G616S		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6 isoform 1	616	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding				0	Ovarian(111;0.11)					GGACCTTCACCCTTGACAGGT	0.542													T	75298700	C	T	75298700	3	4	1	1	0	0	0	0	1	0	0	0	9264	623	22	4	599	4	MAP6	11	75298700	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2290530	75298700	59707816	876	876											
MAP6	4135	broad.mit.edu	37	chr11	75299206	75299206	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccttgagtcttacttgaaTcactgacgggttgagccagg	12	9	2	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:75299206T>C	uc001owu.2	-	4	1405	c.1340A>G	c.(1339-1341)GAT>GGT	p.D447G		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6 isoform 1	447						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding				0	Ovarian(111;0.11)					CTTACTTGAATCACTGACGGG	0.522													C	75299206	T	C	75299206	3	2	1	1	0	0	0	0	1	0	0	0	9264	1435	50	3	1105	3	MAP6	11	75299206	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	506	75299206	59707310	877	877											
TMEM135	65084	broad.mit.edu	37	chr11	87029199	87029199	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaatgtatttcaaaggcatTgaagcagggaaggttcccta	10	7	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:87029199T>C	uc001pch.2	+	13	1121	c.1098T>C	c.(1096-1098)ATT>ATC	p.I366I	TMEM135_uc010rtt.1_Silent_p.I227I|TMEM135_uc001pci.2_Silent_p.I344I	NM_022918	NP_075069	Q86UB9	TM135_HUMAN	transmembrane protein 135	366						integral to membrane					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCAAAGGCATTGAAGCAGGGA	0.373													C	87029199	T	C	87029199	2	2	1	1	0	0	0	0	0	0	0	1	16048	1800	63	3		3	TMEM135	11	87029199	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	11729993	87029199	47977317	878	878											
TYR	7299	broad.mit.edu	37	chr11	88911703	88911703	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgcttgggggatctgaaatCtggagagacattgattttgc	13	6	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:88911703C>T	uc001pcs.2	+	1	664	c.582C>T	c.(580-582)ATC>ATT	p.I194I		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	194	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	GATCTGAAATCTGGAGAGACA	0.438									Oculocutaneous_Albinism				T	88911703	C	T	88911703	2	4	1	1	0	0	0	0	0	0	0	1	16810	903	32	4		4	TYR	11	88911703	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1882504	88911703	46094813	879	879											
FOLR4	390243	broad.mit.edu	37	chr11	94039839	94039840	+	Frame_Shift_Ins	INS	-	-	C													atctgcttctatgagtgctcINScccaaacctggggccctgga							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:94039838_94039839T>TC	uc021qou.1	+	1	298_299	c.298_299T>TC	c.(298-300)tccfs	p.S100fs		NM_001199206	NP_001186135	A6ND01	FOLR4_HUMAN	Homo sapiens folate receptor 4 (delta) homolog (mouse) (FOLR4), mRNA.	100						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CTATGAGTGCTCCCCAAACCTG	0.545													C	94039840	-	C	94039839	7	5	1	1	0	1	1	0	0	0	0	0	5984	855	30	0	305	0	FOLR4	11	94039839	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	5128136	94039839	40966677	880	880											
TRPC6	7225	broad.mit.edu	37	chr11	101353747	101353747	+	Frame_Shift_Del	DEL	T	T	-													gttttcatcctgaacagctgTtttgcattatctgtgctggt							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:101353746_101353746GT>G	uc001pgk.4	-	4	1869	c.1444_1444AC>C	c.(1444-1446)cagfs	p.Q482fs	TRPC6_uc009ywy.3_Frame_Shift_Del_p.Q366fs|TRPC6_uc009ywz.1_Frame_Shift_Del_p.Q427fs	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	482					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTGAACAGCTGTTTTGCATTA	0.408													-	101353747	T	-	101353747	7	5	1	1	0	1	0	1	0	0	0	0	16580	1722	60	0	1388	0	TRPC6	11	101353747	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	7313908	101353747	33652769	881	881											
C11orf70	85016	broad.mit.edu	37	chr11	101937275	101937275	+	Frame_Shift_Del	DEL	T	T	-													gcacacagctttcaatgtcaTtttttcatcggttatatgat							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:101937274_101937274AT>A	uc001pgp.3	+	3	360	c.327_327AT>A	c.(325-327)tcafs	p.S109fs	C11orf70_uc001pgo.3_Intron|C11orf70_uc001pgq.3_Frame_Shift_Del_p.S71fs	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA.	109										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		TTTCAATGTCATTTTTTCATC	0.289													-	101937275	T	-	101937275	7	5	1	1	0	1	0	1	0	0	0	0	1659	1493	52	0	224	0	C11orf70	11	101937275	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	583528	101937275	33069241	882	882											
DYNC2H1	79659	broad.mit.edu	37	chr11	103057190	103057190	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttaagttctgatactaaaCagccctttattctggtagga	9	7	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:103057190C>T	uc001pho.2	+	42	6997	c.6853C>T	c.(6853-6855)CAG>TAG	p.Q2285*	DYNC2H1_uc001phn.1_Nonsense_Mutation_p.Q2285*|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2285	AAA 3 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGATACTAAACAGCCCTTTAT	0.403													T	103057190	C	T	103057190	4	4	1	1	0	0	0	0	0	1	0	0	4846	479	17	4	7019	4	DYNC2H1	11	103057190	Nonsense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1119915	103057190	31949326	883	883											
DDI1	414301	broad.mit.edu	37	chr11	103908380	103908380	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgtgccgagcgatgtaAcatcatgaggctggtggacc	15	9	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:103908380A>C	uc001phr.2	+	1	1073	c.830A>C	c.(829-831)AAC>ACC	p.N277T	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	277					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GAGCGATGTAACATCATGAGG	0.502													C	103908380	A	C	103908380	3	2	1	1	0	0	0	0	1	0	0	0	4328	43	2	5	832	5	DDI1	11	103908380	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	851190	103908380	31098136	884	884											
RDX	5962	broad.mit.edu	37	chr11	110104137	110104137	+	Frame_Shift_Del	DEL	G	G	-													ctggtggtggtggaggtggaGggggggcagacatcacagtt							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:110104136_110104136AG>A	uc009yxy.3	-	12	1723	c.1413_1413CT>T	c.(1411-1413)cctfs	p.P471fs	RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Frame_Shift_Del_p.P124fs|RDX_uc009yya.3_Intron|RDX_uc001pks.3_Frame_Shift_Del_p.P5fs|RDX_uc001pkt.3_Frame_Shift_Del_p.P125fs|RDX_uc001pku.3_Frame_Shift_Del_p.P471fs|RDX_uc010rwe.2_Frame_Shift_Del_p.P335fs	NM_002906	NP_002897	P35241	RADI_HUMAN	Homo sapiens radixin (RDX), mRNA.	471	Glu-rich.|Poly-Pro.				actin filament capping	Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAG	0.433													-	110104137	G	-	110104137	7	5	1	1	0	1	0	1	0	0	0	0	13198	1000	35	0	347	0	RDX	11	110104137	Frame_Shift_Del	DEL	G	TCGA-B7-5816-01A-21D-1600-08	6195757	110104137	24902379	885	885											
DLAT	1737	broad.mit.edu	37	chr11	111916693	111916693	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtacggaaagaacttaataAggtaaaagttctgaaaattc	9	4	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:111916693A>C	uc001pmo.2	+	10	2056	c.1397A>C	c.(1396-1398)AAG>ACG	p.K466T	DLAT_uc009yyk.1_Missense_Mutation_p.K361T|DLAT_uc010rwr.1_Missense_Mutation_p.K339T	NM_001931	NP_001922	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase precursor	466	Catalytic (By similarity).				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding				0		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	GAACTTAATAAGGTAAAAGTT	0.269													C	111916693	A	C	111916693	3	2	1	1	0	0	0	0	1	0	0	0	4549	86	3	5	1435	5	DLAT	11	111916693	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1812556	111916693	23089823	886	886											
UBE4A	9354	broad.mit.edu	37	chr11	118243291	118243291	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcactgtgtccaataccCgaacagttcttctcacccca	4	17	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:118243291C>T	uc001psw.2	+	6	760	c.631C>T	c.(631-633)CGA>TGA	p.R211*	UBE4A_uc001psv.2_Nonsense_Mutation_p.R211*	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	211					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GTCCAATACCCGAACAGTTCT	0.463													T	118243291	C	T	118243291	4	4	1	1	0	0	0	0	0	1	0	0	16879	644	23	1	649	1	UBE4A	11	118243291	Nonsense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	6326598	118243291	16763225	887	887											
MLL	4297	broad.mit.edu	37	chr11	118376657	118376657	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatgttgtatccatgcaAactaccacaacccctacaag	5	12	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:118376657A>G	uc001pta.2	+	27	10064	c.10041A>G	c.(10039-10041)CAA>CAG	p.Q3347Q	MLL_uc001ptb.2_Silent_p.Q3350Q	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3347					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TATCCATGCAAACTACCACAA	0.488			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								G	118376657	A	G	118376657	2	3	1	1	0	0	0	0	0	0	0	1	9620	11	1	3		3	MLL	11	118376657	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	133366	118376657	16629859	888	888											
PHLDB1	23187	broad.mit.edu	37	chr11	118498177	118498177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggagcctggagctgctgGcaagaagcctgccgcaacct	14	12	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:118498177G>A	uc001ptr.1	+	7	991	c.638G>A	c.(637-639)GGC>GAC	p.G213D	PHLDB1_uc010ryh.1_Missense_Mutation_p.G212D|PHLDB1_uc001pts.2_Missense_Mutation_p.G213D|PHLDB1_uc001ptt.2_Missense_Mutation_p.G213D|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Missense_Mutation_p.G13D|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	213											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGAGCTGCTGGCAAGAAGCCT	0.617													A	118498177	G	A	118498177	3	1	1	1	0	0	0	0	1	0	0	0	11851	1203	42	2	656	2	PHLDB1	11	118498177	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	121520	118498177	16508339	889	889											
TRIM29	23650	broad.mit.edu	37	chr11	120008663	120008663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccattctccaggctgccaCtggggcccgacgggctccgg	14	16	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:120008663C>T	uc001pwz.2	-	1	201	c.77G>A	c.(76-78)AGT>AAT	p.S26N	TRIM29_uc001pxa.2_RNA	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	26					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CAGGCTGCCACTGGGGCCCGA	0.677													T	120008663	C	T	120008663	3	4	1	1	0	0	0	0	1	0	0	0	16500	565	20	4	1725	4	TRIM29	11	120008663	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1510486	120008663	14997853	890	890											
GRIK4	2900	broad.mit.edu	37	chr11	120702712	120702712	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcatcatccacgccaacgcCtccatgtcccacaccatcct	3	20	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:120702712C>A	uc001pxn.2	+	7	950	c.663C>A	c.(661-663)GCC>GCA	p.A221A	GRIK4_uc009zav.1_Silent_p.A221A|GRIK4_uc009zaw.1_Silent_p.A221A|GRIK4_uc009zax.1_Silent_p.A221A	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	221	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	ACGCCAACGCCTCCATGTCCC	0.662													A	120702712	C	A	120702712	2	1	1	1	0	0	0	0	0	0	0	1	6776	668	24	5		5	GRIK4	11	120702712	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	694049	120702712	14303804	891	891											
TECTA	7007	broad.mit.edu	37	chr11	121000373	121000373	+	Frame_Shift_Del	DEL	T	T	-													ggtcaggaagtggaattgccTtttttccatccttcggggaa							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:121000372_121000372CT>C	uc010rzo.2	+	8	2393	c.2393_2393CT>C	c.(2392-2394)cctfs	p.P798fs		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	798	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTGGAATTGCCTTTTTTCCAT	0.438													-	121000373	T	-	121000373	7	5	1	1	0	1	0	1	0	0	0	0	15744	1596	56	0	2428	0	TECTA	11	121000373	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	297661	121000373	14006143	892	892											
SC5DL	6309	broad.mit.edu	37	chr11	121178116	121178116	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctttgaggggaagggaccGctcagttatgtgaaggagat	15	6	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:121178116G>A	uc001pxu.2	+	5	943	c.795G>A	c.(793-795)CCG>CCA	p.P265P	SC5DL_uc001pxt.2_3'UTR|SC5DL_uc001pxv.2_Silent_p.P265P	NM_006918	NP_008849	O75845	SC5D_HUMAN	sterol-C5-desaturase	265				PQILQPFINGSAHHTDHHMFFDYNYGQYFTLWDRIGGSFKN PSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTK TE -> RMKNYSMESLQRLNRLLPSYS (in Ref. 1; BAA18970).	fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity			ovary(1)	1		Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	OV - Ovarian serous cystadenocarcinoma(1;0.0334)	BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		GGAAGGGACCGCTCAGTTATG	0.408													A	121178116	G	A	121178116	2	1	1	1	0	0	0	0	0	0	0	1	13866	1074	38	1		1	SC5DL	11	121178116	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	177743	121178116	13828400	893	893											
SORL1	6653	broad.mit.edu	37	chr11	121393396	121393398	+	In_Frame_Del	DEL	CCT	CCT	-													tccaaggagtcggctccaggCctcatcatcgccactggtaa							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:121393395_121393397GCCT>G	uc001pxx.3	+	9	1634_1636	c.1505_1507GCCT>G	c.(1504-1509)ggcctc>gGtc	p.L503del		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	503					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCGGCTCCAGGCCTCATCATCGC	0.581													-	121393398	CCT	-	121393396	7	5	1	1	0	1	0	1	0	0	0	0	14934	726	26	0	1544	0	SORL1	11	121393396	In_Frame_Del	DEL	CCT	TCGA-B7-5816-01A-21D-1600-08	215280	121393396	13613120	894	894											
C11orf63	79864	broad.mit.edu	37	chr11	122774913	122774913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtgcccgtcgcagcaagCcgttttcagagctgagcgac	13	12	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:122774913C>T	uc001pym.2	+	3	922	c.625C>T	c.(625-627)CCG>TCG	p.P209S	C11orf63_uc001pyl.1_Missense_Mutation_p.P209S	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	209										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TCGCAGCAAGCCGTTTTCAGA	0.517													T	122774913	C	T	122774913	3	4	1	1	0	0	0	0	1	0	0	0	1654	739	26	2	631	2	C11orf63	11	122774913	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1381517	122774913	12231603	895	895											
SCN3B	55800	broad.mit.edu	37	chr11	123504900	123504900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgttctcagatgggatgGcaaggtagtcagacctatag	12	8	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:123504900G>A	uc001pza.1	-	6	1006	c.599C>T	c.(598-600)GCC>GTC	p.A200V	SCN3B_uc001pzb.1_Missense_Mutation_p.A200V	NM_001040151	NP_001035241	Q9NY72	SCN3B_HUMAN	voltage-gated sodium channel beta-3 subunit	200	Cytoplasmic (Potential).				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		AGATGGGATGGCAAGGTAGTC	0.542													A	123504900	G	A	123504900	3	1	1	1	0	0	0	0	1	0	0	0	13919	1203	42	2	52	2	SCN3B	11	123504900	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	729987	123504900	11501616	896	896											
OR4D5	219875	broad.mit.edu	37	chr11	123810680	123810680	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgctgactgtcatggcGtatgaccgctacattgccat	9	12	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:123810680G>A	uc001pzk.1	+	1	357	c.357G>A	c.(355-357)GCG>GCA	p.A119A		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTGTCATGGCGTATGACCGCT	0.522													A	123810680	G	A	123810680	2	1	1	1	0	0	0	0	0	0	0	1	11057	1132	40	1		1	OR4D5	11	123810680	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	305780	123810680	11195836	897	897											
OR10S1	219873	broad.mit.edu	37	chr11	123847769	123847769	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgctggcaagcatgactagCtcattaatggtggtgtctgt	12	7	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:123847769C>A	uc001pzm.1	-	1	630	c.630G>T	c.(628-630)GAG>GAT	p.E210D		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	210	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCATGACTAGCTCATTAATGG	0.542													A	123847769	C	A	123847769	3	1	1	1	0	0	0	0	1	0	0	0	10918	796	28	5	369	5	OR10S1	11	123847769	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	37089	123847769	11158747	898	898											
OR8G2	26492	broad.mit.edu	37	chr11	124095694	124095694	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaatgctggtgaactttgtGacagagaagaacatcatctc	9	7	2	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:124095694G>A	uc010saf.1	+	1	297	c.297G>A	c.(295-297)GTG>GTA	p.V99V		NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN	olfactory receptor, family 8, subfamily G,	99						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TGAACTTTGTGACAGAGAAGA	0.443													A	124095694	G	A	124095694	2	1	1	1	0	0	0	0	0	0	0	1	11235	1277	45	4		4	OR8G2	11	124095694	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	247925	124095694	10910822	899	899											
RPUSD4	84881	broad.mit.edu	37	chr11	126073382	126073382	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggcatctctaaacgcagGcggtgcagggaatgcacaaa	12	9	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:126073382G>A	uc001qde.2	-	7	1119	c.1065C>T	c.(1063-1065)CGC>CGT	p.R355R	RPUSD4_uc010sbl.1_Silent_p.R162R|RPUSD4_uc009zbz.2_Silent_p.R324R|RPUSD4_uc009zby.2_RNA	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	355					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)	1	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CTAAACGCAGGCGGTGCAGGG	0.567													A	126073382	G	A	126073382	2	1	1	1	0	0	0	0	0	0	0	1	13669	1190	42	2		2	RPUSD4	11	126073382	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1977688	126073382	8933134	900	900											
KCNA1	3736	broad.mit.edu	37	chr12	5021148	5021148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaggacttcacgggcaccGtccaccgcatcgacaacacc	8	17	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:5021148G>A	uc001qnh.2	+	2	1709	c.604G>A	c.(604-606)GTC>ATC	p.V202I		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	202					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CACGGGCACCGTCCACCGCAT	0.532													A	5021148	G	A	5021148	3	1	1	1	0	0	0	0	1	0	0	0	8001	1145	40	1	606	1	KCNA1	12	5021148	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08		5021148	128830747	901	901											
MRPL51	51258	broad.mit.edu	37	chr12	6602121	6602121	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggagagtgagccttatacCgatcaatctaggcacacctg	11	11	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:6602121C>A	uc001qom.2	-	2	266	c.97G>T	c.(97-99)GGT>TGT	p.G33C	MRPL51_uc001qon.1_RNA|NCAPD2_uc009zen.1_5'Flank|NCAPD2_uc001qoo.2_5'Flank|NCAPD2_uc010sfd.1_5'Flank	NM_016497	NP_057581	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51 precursor	33					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome				0						AGCCTTATACCGATCAATCTA	0.522													A	6602121	C	A	6602121	3	1	1	1	0	0	0	0	1	0	0	0	9815	652	23	5	297	5	MRPL51	12	6602121	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1580973	6602121	127249774	902	902											
CHD4	1108	broad.mit.edu	37	chr12	6692236	6692236	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatcaccttcctctgaagcCactgagtaatcggactggtt	8	12	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:6692236C>A	uc001qpo.2	-	27	4268	c.4104G>T	c.(4102-4104)GTG>GTT	p.V1368V	CHD4_uc001qpn.2_Silent_p.V1361V|CHD4_uc001qpp.2_Silent_p.V1393V|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1368					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCTCTGAAGCCACTGAGTAAT	0.502													A	6692236	C	A	6692236	2	1	1	1	0	0	0	0	0	0	0	1	3327	581	21	5		5	CHD4	12	6692236	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	90115	6692236	127159659	903	903											
ATN1	1822	broad.mit.edu	37	chr12	7046278	7046278	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcggctaccctttccacGgtcattgccaccgtggcttc	8	16	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:7046278G>A	uc001qrw.1	+	5	2085	c.1848G>A	c.(1846-1848)ACG>ACA	p.T616T	ATN1_uc001qrx.1_Silent_p.T616T	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	616					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						CCCTTTCCACGGTCATTGCCA	0.667													A	7046278	G	A	7046278	2	1	1	1	0	0	0	0	0	0	0	1	1111	1103	39	1		1	ATN1	12	7046278	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	354042	7046278	126805617	904	904											
C1S	716	broad.mit.edu	37	chr12	7173936	7173936	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgggtttgaagttgtggAggtaaagtaccaccttggct	15	5	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:7173936A>G	uc001qsj.2	+	11	1705	c.986A>G	c.(985-987)GAG>GGG	p.E329G	C1S_uc001qsk.2_Missense_Mutation_p.E329G|C1S_uc001qsl.2_Missense_Mutation_p.E329G|C1S_uc009zfr.2_Missense_Mutation_p.E162G|C1S_uc009zfs.2_RNA	NM_201442	NP_958850	P09871	C1S_HUMAN	complement component 1, s subcomponent	329	Sushi 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			skin(1)	1					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GAAGTTGTGGAGGTAAAGTAC	0.478													G	7173936	A	G	7173936	3	3	1	1	0	0	0	0	1	0	0	0	1974	318	11	3	1012	3	C1S	12	7173936	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	127658	7173936	126677959	905	905											
CD163	9332	broad.mit.edu	37	chr12	7649572	7649572	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcgaccaatggctgtgacGgcagttggacatcccagttg	12	11	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:7649572G>A	uc001qsz.3	-	5	1064	c.936C>T	c.(934-936)GCC>GCT	p.A312A	CD163_uc001qta.3_Silent_p.A312A|CD163_uc009zfw.2_Silent_p.A312A	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	312	SRCR 3.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						TGGCTGTGACGGCAGTTGGAC	0.507													A	7649572	G	A	7649572	2	1	1	1	0	0	0	0	0	0	0	1	2967	1103	39	1		1	CD163	12	7649572	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	475636	7649572	126202323	906	906											
C3AR1	719	broad.mit.edu	37	chr12	8212287	8212287	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctattatggttgtctgtAgtgaagatttcccggtacac	9	8	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:8212287A>G	uc001qtv.1	-	2	587	c.495T>C	c.(493-495)ACT>ACC	p.T165T		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	165	Extracellular (Potential).				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)	1				Kidney(36;0.0893)		GGTTGTCTGTAGTGAAGATTT	0.433													G	8212287	A	G	8212287	2	3	1	1	0	0	0	0	0	0	0	1	2205	407	15	3		3	C3AR1	12	8212287	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	562715	8212287	125639608	907	907											
RIMKLB	57494	broad.mit.edu	37	chr12	8902584	8902584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctagagaagatgggatgtcGgttaatgaaccgacctcaag	12	7	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:8902584G>A	uc001quu.2	+	3	553	c.302G>A	c.(301-303)CGG>CAG	p.R101Q	RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Missense_Mutation_p.R101Q|RIMKLB_uc010sgl.1_Missense_Mutation_p.R101Q|RIMKLB_uc001quw.2_Missense_Mutation_p.R101Q	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family	101					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						ATGGGATGTCGGTTAATGAAC	0.488													A	8902584	G	A	8902584	3	1	1	1	0	0	0	0	1	0	0	0	13366	1116	39	1	308	1	RIMKLB	12	8902584	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	690297	8902584	124949311	908	908											
RIMKLB	57494	broad.mit.edu	37	chr12	8926159	8926159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccctctggccggctcaccCggcgtatgtccctgctctcc	9	19	3	0	rs34259191		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:8926159C>T	uc001quu.2	+	6	1191	c.940C>T	c.(940-942)CGG>TGG	p.R314W	RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_Missense_Mutation_p.R314W|RIMKLB_uc010sgl.1_Missense_Mutation_p.R314W|RIMKLB_uc001quw.2_Intron	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family	314					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						CCGGCTCACCCGGCGTATGTC	0.552													T	8926159	C	T	8926159	3	4	1	1	0	0	0	0	1	0	0	0	13366	643	23	1	958	1	RIMKLB	12	8926159	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	23575	8926159	124925736	909	909											
A2M	2	broad.mit.edu	37	chr12	9246162	9246162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgtgcatggcctcttccCattacatctgactctatggt	9	12	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:9246162C>T	uc001qvk.1	-	18	2252	c.2139G>A	c.(2137-2139)ATG>ATA	p.M713I	A2M_uc009zgk.1_Missense_Mutation_p.M563I	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	713	Bait region.				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	GGCCTCTTCCCATTACATCTG	0.428													T	9246162	C	T	9246162	3	4	1	1	0	0	0	0	1	0	0	0	4	594	21	4	2361	4	A2M	12	9246162	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	320003	9246162	124605733	910	910											
LOH12CR1	118426	broad.mit.edu	37	chr12	12618589	12618589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagatgtccgccatcctccGccgcatacagatgggcatcg	11	15	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:12618589G>A	uc001ral.2	+	4	836	c.470G>A	c.(469-471)CGC>CAC	p.R157H	LOH12CR1_uc009zhu.2_Missense_Mutation_p.R109H	NM_058169	NP_477517	Q969J3	L12R1_HUMAN	LOH1CR12	157										ovary(1)	1		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		GCCATCCTCCGCCGCATACAG	0.582													A	12618589	G	A	12618589	3	1	1	1	0	0	0	0	1	0	0	0	8891	1087	38	1	484	1	LOH12CR1	12	12618589	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	3372427	12618589	121233306	911	911											
ATF7IP	55729	broad.mit.edu	37	chr12	14631256	14631257	+	Frame_Shift_Ins	INS	-	-	A													cttttaactaacagaccccaINSaaaaactaaatcacactcct							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:14631255_14631256C>CA	uc001rbw.3	+	11	3104_3105	c.2946_2947C>CA	c.(2944-2949)cccaaafs	p.P982fs	ATF7IP_uc001rbv.1_Frame_Shift_Ins_p.P981fs|ATF7IP_uc001rbx.3_Frame_Shift_Ins_p.P981fs|ATF7IP_uc001rby.4_Frame_Shift_Ins_p.P982fs|ATF7IP_uc001rca.3_Frame_Shift_Ins_p.P982fs	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	982					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TAACAGACCCCAAAAAACTAAA	0.396													A	14631257	-	A	14631256	7	5	1	1	0	1	1	0	0	0	0	0	1087	131	5	0	2989	0	ATF7IP	12	14631256	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	2012667	14631256	119220639	912	912											
EPS8	2059	broad.mit.edu	37	chr12	15776135	15776135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatttggctatagactctcGccccttcagggcagactgtc	10	12	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:15776135G>A	uc009zif.2	-	20	2406	c.2312C>T	c.(2311-2313)GCG>GTG	p.A771V	EPS8_uc001rdb.2_Missense_Mutation_p.A771V|EPS8_uc009zig.2_Missense_Mutation_p.A511V|EPS8_uc010shv.1_Missense_Mutation_p.A511V	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	771					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		ATAGACTCTCGCCCCTTCAGG	0.398													A	15776135	G	A	15776135	3	1	1	1	0	0	0	0	1	0	0	0	5194	1087	38	1	164	1	EPS8	12	15776135	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1144879	15776135	118075760	913	913											
ABCC9	10060	broad.mit.edu	37	chr12	22005084	22005084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttttccagtgttcataaaGctcaacatctttggtttgaa	7	7	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:22005084G>T	uc001rfi.1	-	22	2736	c.2716C>A	c.(2716-2718)CTT>ATT	p.L906I	ABCC9_uc001rfh.2_Missense_Mutation_p.L906I|ABCC9_uc001rfj.1_Missense_Mutation_p.L870I	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	906	Cytoplasmic (Potential).|ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGTTCATAAAGCTCAACATCT	0.388													T	22005084	G	T	22005084	3	4	1	1	0	0	0	0	1	0	0	0	59	971	34	5	2143	5	ABCC9	12	22005084	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	6228949	22005084	111846811	914	914											
ST8SIA1	6489	broad.mit.edu	37	chr12	22354742	22354742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaagtcctgtggacaggCgcttggcatggattcctcta	12	9	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:22354742C>T	uc001rfo.3	-	5	1297	c.815G>A	c.(814-816)CGC>CAC	p.R272H	ST8SIA1_uc009zix.2_Missense_Mutation_p.R129H	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	alpha-2,8-sialyltransferase 1	272	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(3)	3						TGTGGACAGGCGCTTGGCATG	0.507													T	22354742	C	T	22354742	3	4	1	1	0	0	0	0	1	0	0	0	15230	768	27	1	259	1	ST8SIA1	12	22354742	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	349658	22354742	111497153	915	915											
SOX5	6660	broad.mit.edu	37	chr12	23757415	23757415	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccttggggtatgcctggcAgcttccctcctggagatacc	12	13	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:23757415A>C	uc001rfw.2	-	9	1172	c.1070T>G	c.(1069-1071)CTG>CGG	p.L357R	SOX5_uc001rfx.2_Missense_Mutation_p.L344R|SOX5_uc001rfy.2_Missense_Mutation_p.L344R|SOX5_uc010siv.1_Missense_Mutation_p.L344R|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.L309R	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	357					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						TATGCCTGGCAGCTTCCCTCC	0.493													C	23757415	A	C	23757415	3	2	1	1	0	0	0	0	1	0	0	0	14954	188	7	5	1259	5	SOX5	12	23757415	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1402673	23757415	110094480	916	916											
TM7SF3	51768	broad.mit.edu	37	chr12	27156306	27156306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtatctaaatttccccaCagaaaattcaataagaccta	4	9	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:27156306C>T	uc010sjl.1	-	2	347	c.109G>A	c.(109-111)GTG>ATG	p.V37M		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3 precursor	37						integral to membrane|plasma membrane				upper_aerodigestive_tract(2)	2	Colorectal(261;0.0847)					AATTTCCCCACAGAAAATTCA	0.323													T	27156306	C	T	27156306	3	4	1	1	0	0	0	0	1	0	0	0	15972	478	17	4	1647	4	TM7SF3	12	27156306	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3398891	27156306	106695589	917	917											
GXYLT1	283464	broad.mit.edu	37	chr12	42499688	42499688	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagtttactccagtttttcCataatatggatgcctagcaa	7	8	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:42499688C>A	uc001rms.3	-	5	1021	c.796G>T	c.(796-798)GGA>TGA	p.G266*	GXYLT1_uc001rmt.3_Nonsense_Mutation_p.G235*	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	glycosyltransferase 8 domain containing 3	266	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0						CCAGTTTTTCCATAATATGGA	0.368													A	42499688	C	A	42499688	4	1	1	1	0	0	0	0	0	1	0	0	6903	603	21	5	542	5	GXYLT1	12	42499688	Nonsense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	15343382	42499688	91352207	918	918											
IRAK4	51135	broad.mit.edu	37	chr12	44177520	44177520	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaacaccgtgaacctcAgttattggtaaatgaaatat	9	6	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:44177520A>C	uc001rnu.3	+	11	1311	c.1181A>C	c.(1180-1182)CAG>CCG	p.Q394P	IRAK4_uc001rnt.3_Missense_Mutation_p.Q394P|IRAK4_uc001rnx.3_Missense_Mutation_p.Q270P|IRAK4_uc001rny.3_Missense_Mutation_p.Q270P|IRAK4_uc010sky.1_Missense_Mutation_p.Q270P|IRAK4_uc001rnv.3_Missense_Mutation_p.Q270P|IRAK4_uc001rnw.3_Missense_Mutation_p.Q270P	NM_001114182	NP_001107654	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	394	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		CGTGAACCTCAGTTATTGGTA	0.269													C	44177520	A	C	44177520	3	2	1	1	0	0	0	0	1	0	0	0	7825	188	7	5	1215	5	IRAK4	12	44177520	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1677832	44177520	89674375	919	919											
NELL2	4753	broad.mit.edu	37	chr12	45173737	45173737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaacacttctgtgtgagggCggtgactgcctgagcggtaa	15	8	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:45173737C>T	uc001rog.2	-	4	999	c.404G>A	c.(403-405)CGC>CAC	p.R135H	NELL2_uc001rof.3_Missense_Mutation_p.R134H|NELL2_uc001roh.2_Missense_Mutation_p.R135H|NELL2_uc009zkd.2_Missense_Mutation_p.R134H|NELL2_uc010skz.1_Missense_Mutation_p.R185H|NELL2_uc010sla.1_Missense_Mutation_p.R158H|NELL2_uc001roi.1_Missense_Mutation_p.R135H|NELL2_uc010slb.1_Missense_Mutation_p.R134H|NELL2_uc001roj.2_Missense_Mutation_p.R135H	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	135	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGTGTGAGGGCGGTGACTGCC	0.488													T	45173737	C	T	45173737	3	4	1	1	0	0	0	0	1	0	0	0	10334	768	27	1	2114	1	NELL2	12	45173737	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	996217	45173737	88678158	920	920											
COL2A1	1280	broad.mit.edu	37	chr12	48367873	48367873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggcagccccactcaccGtgcagccatccttcagggca	9	18	3	0	rs121912886		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:48367873G>A	uc001rqu.2	-	53	4497	c.4316C>T	c.(4315-4317)ACG>ATG	p.T1439M	COL2A1_uc001rqt.2_Missense_Mutation_p.T220M|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.T1370M	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1439	Fibrillar collagen NC1.		T -> M (in SEDC).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCCACTCACCGTGCAGCCATC	0.617													A	48367873	G	A	48367873	3	1	1	1	0	0	0	0	1	0	0	0	3687	1159	40	1	155	1	COL2A1	12	48367873	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	3194136	48367873	85484022	921	921											
OR8S1	341568	broad.mit.edu	37	chr12	48921795	48921795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgaaggccgcagggagcccgGacacccggagctgagcattc	15	14	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:48921795G>A	uc010slu.1	+	2	989	c.989G>A	c.(988-990)GGA>GAA	p.G330E		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S,	330	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AGGGAGCCCGGACACCCGGAG	0.677													A	48921795	G	A	48921795	3	1	1	1	0	0	0	0	1	0	0	0	11246	1174	41	4	995	4	OR8S1	12	48921795	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	553922	48921795	84930100	922	922											
CCNT1	904	broad.mit.edu	37	chr12	49110337	49110337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctgaagcagattggccGcctgctggcgataagaaagt	13	9	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:49110337G>A	uc001rse.1	-	1	445	c.122C>T	c.(121-123)GCG>GTG	p.A41V	CCNT1_uc009zkz.1_5'UTR	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	41					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			ovary(3)|lung(1)|breast(1)|skin(1)	6						CAGATTGGCCGCCTGCTGGCG	0.552											OREG0021767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	49110337	G	A	49110337	3	1	1	1	0	0	0	0	1	0	0	0	2934	1087	38	1	2094	1	CCNT1	12	49110337	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	188542	49110337	84741558	923	923											
ADCY6	112	broad.mit.edu	37	chr12	49170889	49170889	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaatggggcactgcttacgaGatggcctcaatcatgtctac	11	10	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:49170889G>A	uc001rsh.3	-	5	2034	c.1374C>T	c.(1372-1374)ATC>ATT	p.I458I	ADCY6_uc001rsj.3_Silent_p.I458I|ADCY6_uc001rsi.3_Silent_p.I458I|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	458	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0						CTGCTTACGAGATGGCCTCAA	0.567													A	49170889	G	A	49170889	2	1	1	1	0	0	0	0	0	0	0	1	298	932	33	4		4	ADCY6	12	49170889	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	60552	49170889	84681006	924	924											
MLL2	8085	broad.mit.edu	37	chr12	49445203	49445203	+	Frame_Shift_Del	DEL	G	G	-													taggtgtggctcctcaggccGgggggacaggtgcggctcct							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:49445202_49445202CG>C	uc001rta.4	-	9	2264	c.2264_2264CG>G	c.(2263-2265)cggfs	p.R755fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	755	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CTCCTCAGGCCGGGGGGACAG	0.687			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	49445203	G	-	49445203	7	5	1	1	0	1	0	1	0	0	0	0	9621	1115	39	0	14530	0	MLL2	12	49445203	Frame_Shift_Del	DEL	G	TCGA-B7-5816-01A-21D-1600-08	274314	49445203	84406692	925	925											
MLL2	8085	broad.mit.edu	37	chr12	49445987	49445987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaggcggcggagagagGggcgattcctccagcggccg	17	13	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:49445987G>A	uc001rta.3	-	10	1479	c.1479C>T	c.(1477-1479)CCC>CCT	p.P493P		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	493	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GCGGAGAGAGGGGCGATTCCT	0.617			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49445987	G	A	49445987	2	1	1	1	0	0	0	0	0	0	0	1	9621	1219	43	4		4	MLL2	12	49445987	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	784	49445987	84405908	926	926											
PRPF40B	25766	broad.mit.edu	37	chr12	50036136	50036136	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtgcctgctctggagcTaggcactgcctgggaagagg	17	10	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:50036136T>C	uc001rur.1	+	19	2001	c.1937T>C	c.(1936-1938)CTA>CCA	p.L646P	FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Missense_Mutation_p.L668P|PRPF40B_uc001ruq.1_Missense_Mutation_p.L633P|PRPF40B_uc001rus.1_Missense_Mutation_p.L589P|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Huntingtin interacting protein C isoform 1	646					mRNA processing|RNA splicing	nuclear speck				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						GCTCTGGAGCTAGGCACTGCC	0.667													C	50036136	T	C	50036136	3	2	1	1	0	0	0	0	1	0	0	0	12572	1522	53	3	2011	3	PRPF40B	12	50036136	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	590149	50036136	83815759	927	927											
LASS5	91012	broad.mit.edu	37	chr12	50528418	50528418	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagggtcagcagcaggccatTgaggagccaccatgaagcat	13	10	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:50528418T>C	uc001rwd.3	-	9	957	c.940A>G	c.(940-942)AAT>GAT	p.N314D	LASS5_uc001rwc.2_Missense_Mutation_p.N233D|LASS5_uc001rwe.3_Missense_Mutation_p.N255D|LASS5_uc001rwf.3_RNA|LASS5_uc010smq.1_Missense_Mutation_p.N170D	NM_147190	NP_671723	Q8N5B7	CERS5_HUMAN	LAG1 homolog, ceramide synthase 5	314	TLC.|Helical; (Potential).				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity				0						AGCAGGCCATTGAGGAGCCAC	0.493													C	50528418	T	C	50528418	3	2	1	1	0	0	0	0	1	0	0	0	8642	1812	63	3	246	3	LASS5	12	50528418	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	492282	50528418	83323477	928	928											
METTL7A	25840	broad.mit.edu	37	chr12	51319130	51319130	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgaccccaaccccaacttTgagaagtttttgatcaagag	7	10	1	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:51319130T>C	uc001rxb.2	+	1	597	c.309T>C	c.(307-309)TTT>TTC	p.F103F	METTL7A_uc010smv.1_Intron	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN	methyltransferase like 7A precursor	103						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity				0						ACCCCAACTTTGAGAAGTTTT	0.557													C	51319130	T	C	51319130	2	2	1	1	0	0	0	0	0	0	0	1	9505	1809	63	3		3	METTL7A	12	51319130	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	790712	51319130	82532765	929	929											
DAZAP2	9802	broad.mit.edu	37	chr12	51634178	51634178	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcctcctgggaatccagTataccctcagaccttgcatc	8	15	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:51634178T>C	uc010snd.1	+	2	249	c.65T>C	c.(64-66)GTA>GCA	p.V22A	DAZAP2_uc001ryb.2_Missense_Mutation_p.V22A|DAZAP2_uc010snc.1_Missense_Mutation_p.V22A|DAZAP2_uc010sne.1_Missense_Mutation_p.V22A|DAZAP2_uc010snf.1_Missense_Mutation_p.V22A	NM_001136266	NP_001129738	Q15038	DAZP2_HUMAN	DAZ associated protein 2 isoform c	22	Pro-rich.						WW domain binding				0						GGGAATCCAGTATACCCTCAG	0.498													C	51634178	T	C	51634178	3	2	1	1	0	0	0	0	1	0	0	0	4245	1638	57	3	71	3	DAZAP2	12	51634178	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	315048	51634178	82217717	930	930											
KRT7	3855	broad.mit.edu	37	chr12	52639292	52639292	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaggagctggaagccgccCtgcagcggggcaagcaggat	18	10	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:52639292C>A	uc001saa.1	+	7	1208	c.1081C>A	c.(1081-1083)CTG>ATG	p.L361M	KRT7_uc009zmf.1_Intron	NM_005556	NP_005547	P08729	K2C7_HUMAN	keratin 7	361	Rod.|Coil 2.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.105)		GGAAGCCGCCCTGCAGCGGGG	0.642													A	52639292	C	A	52639292	3	1	1	1	0	0	0	0	1	0	0	0	8483	680	24	5	1107	5	KRT7	12	52639292	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1005114	52639292	81212603	931	931											
KRT72	140807	broad.mit.edu	37	chr12	52979783	52979783	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatcatctggaggccttttTggtggcacagctgctccccg	11	14	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:52979783T>G	uc001sar.2	-	9	1605	c.1519A>C	c.(1519-1521)AAA>CAA	p.K507Q	KRT72_uc001saq.2_Missense_Mutation_p.K507Q|KRT72_uc010sns.1_Missense_Mutation_p.K465Q|KRT72_uc010snt.1_Missense_Mutation_p.K319Q	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN	keratin 72 isoform 1	507	Tail.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6				BRCA - Breast invasive adenocarcinoma(357;0.195)		GAGGCCTTTTTGGTGGCACAG	0.567													G	52979783	T	G	52979783	3	3	1	1	0	0	0	0	1	0	0	0	8485	1821	63	5	20	5	KRT72	12	52979783	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	340491	52979783	80872112	932	932											
TENC1	23371	broad.mit.edu	37	chr12	53453399	53453399	+	Frame_Shift_Del	DEL	G	G	-													tacccctacccacctgagatGgggaaaccagccactgggga							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:53453398_53453398TG>T	uc001sbp.3	+	17	2108	c.1973_1973TG>T	c.(1972-1974)atgfs	p.M658fs	TENC1_uc001sbl.3_Frame_Shift_Del_p.M534fs|TENC1_uc001sbn.3_Frame_Shift_Del_p.M668fs|TENC1_uc001sbq.3_Frame_Shift_Del_p.M153fs|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_Frame_Shift_Del_p.M153fs	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	658					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CCACCTGAGATGGGGAAACCA	0.657													-	53453399	G	-	53453399	7	5	1	1	0	1	0	1	0	0	0	0	15755	1348	47	0	2153	0	TENC1	12	53453399	Frame_Shift_Del	DEL	G	TCGA-B7-5816-01A-21D-1600-08	473616	53453399	80398496	933	933											
ESPL1	9700	broad.mit.edu	37	chr12	53671679	53671679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggcaggccccagctgtaCggtgtctccagcagacagca	14	13	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:53671679C>T	uc001sck.2	+	11	2390	c.2299C>T	c.(2299-2301)CGG>TGG	p.R767W	ESPL1_uc001scj.2_Missense_Mutation_p.R442W|ESPL1_uc010soe.1_5'Flank	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	767					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						CCCAGCTGTACGGTGTCTCCA	0.572													T	53671679	C	T	53671679	3	4	1	1	0	0	0	0	1	0	0	0	5253	527	19	1	2337	1	ESPL1	12	53671679	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	218280	53671679	80180216	934	934											
ESPL1	9700	broad.mit.edu	37	chr12	53680370	53680370	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggtggcctcagctgctgtActacccaactttttgcaagc	9	12	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:53680370A>G	uc001sck.2	+	18	3941	c.3850A>G	c.(3850-3852)ACT>GCT	p.T1284A	ESPL1_uc001scj.2_Missense_Mutation_p.T959A|ESPL1_uc010soe.1_Intron	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1284					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						CAGCTGCTGTACTACCCAACT	0.547													G	53680370	A	G	53680370	3	3	1	1	0	0	0	0	1	0	0	0	5253	391	14	3	3916	3	ESPL1	12	53680370	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	8691	53680370	80171525	935	935											
ESPL1	9700	broad.mit.edu	37	chr12	53683934	53683934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgggcaacaccctcctgCtgacccggctggaaaaggac	12	15	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:53683934C>T	uc001sck.2	+	23	5270	c.5179C>T	c.(5179-5181)CTG>TTG	p.L1727L	ESPL1_uc001scj.2_Silent_p.L1402L	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1727					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						CACCCTCCTGCTGACCCGGCT	0.597													T	53683934	C	T	53683934	2	4	1	1	0	0	0	0	0	0	0	1	5253	796	28	2		2	ESPL1	12	53683934	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3564	53683934	80167961	936	936											
AAAS	8086	broad.mit.edu	37	chr12	53701679	53701679	+	Frame_Shift_Del	DEL	G	G	-													aggatggaaagtgatgagctGgggctgggctcctggctccc							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:53701678_53701678TG>T	uc001scr.4	-	14	1530	c.1367_1367CA>A	c.(1366-1368)cagfs	p.Q456fs	AAAS_uc001scs.4_Frame_Shift_Del_p.Q423fs	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.	456					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						AGTGATGAGCTGGGGCTGGGC	0.577													-	53701679	G	-	53701679	7	5	1	1	0	1	0	1	0	0	0	0	8	1357	47	0	282	0	AAAS	12	53701679	Frame_Shift_Del	DEL	G	TCGA-B7-5816-01A-21D-1600-08	17745	53701679	80150216	937	937											
DGKA	1606	broad.mit.edu	37	chr12	56347164	56347164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccttcccatgcaaattgaCggagaaccctggatgcagac	9	13	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:56347164C>T	uc001sij.2	+	23	2358	c.2094C>T	c.(2092-2094)GAC>GAT	p.D698D	DGKA_uc001sik.2_Silent_p.D698D|DGKA_uc001sil.2_Silent_p.D698D|DGKA_uc001sim.2_Silent_p.D698D|DGKA_uc001sin.2_Silent_p.D698D|DGKA_uc009zof.2_Silent_p.D344D|DGKA_uc001sio.2_Silent_p.D440D	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	698					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	TGCAAATTGACGGAGAACCCT	0.473													T	56347164	C	T	56347164	2	4	1	1	0	0	0	0	0	0	0	1	4465	535	19	1		1	DGKA	12	56347164	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2645485	56347164	77504731	938	938											
CDK2	1017	broad.mit.edu	37	chr12	56362617	56362617	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccattctcatcgggtccTccaccgagaccttaaacctc	6	17	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:56362617T>C	uc001sit.3	+	4	608	c.371T>C	c.(370-372)CTC>CCC	p.L124P	CDK2_uc001siu.3_Missense_Mutation_p.L124P|CDK2_uc010spy.1_Missense_Mutation_p.L98P	NM_001798	NP_001789	P24941	CDK2_HUMAN	cyclin-dependent kinase 2 isoform 1	124	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding			stomach(1)|central_nervous_system(1)	2			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			CATCGGGTCCTCCACCGAGAC	0.502													C	56362617	T	C	56362617	3	2	1	1	0	0	0	0	1	0	0	0	3136	1551	54	3	385	3	CDK2	12	56362617	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	15453	56362617	77489278	939	939											
IKZF4	64375	broad.mit.edu	37	chr12	56429093	56429094	+	Frame_Shift_Ins	INS	-	-	G													ttctcttcccacattgtccgINSgggggagcataaggtgggct							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:56429092_56429093C>CG	uc001sjb.1	+	8	1894_1895	c.1735_1736C>CG	c.(1735-1737)cggfs	p.R579fs	IKZF4_uc010sqa.1_Frame_Shift_Ins_p.R532fs|IKZF4_uc001sjc.1_Frame_Shift_Ins_p.R579fs|IKZF4_uc001sjd.1_Frame_Shift_Ins_p.R477fs|IKZF4_uc009zoi.1_Frame_Shift_Ins_p.R534fs|IKZF4_uc001sje.1_Frame_Shift_Ins_p.R538fs	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	Homo sapiens IKAROS family zinc finger 4 (Eos) (IKZF4), mRNA.	579					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554													G	56429094	-	G	56429093	7	5	1	1	0	1	1	0	0	0	0	0	7617	1116	39	0	1766	0	IKZF4	12	56429093	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	66476	56429093	77422802	940	940											
TIMELESS	8914	broad.mit.edu	37	chr12	56827603	56827603	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcctggtggtgctgggtgaGgatgggcagaaggtcgctct	19	7	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:56827603G>T	uc001slf.2	-	3	373	c.205C>A	c.(205-207)CTC>ATC	p.L69I	TIMELESS_uc001slg.2_Missense_Mutation_p.L69I	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	69					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						TGCTGGGTGAGGATGGGCAGA	0.547													T	56827603	G	T	56827603	3	4	1	1	0	0	0	0	1	0	0	0	15901	1000	35	5	3529	5	TIMELESS	12	56827603	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	398510	56827603	77024292	941	941											
BAZ2A	11176	broad.mit.edu	37	chr12	57000083	57000083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcttggtctcttgtttcCgcttatttctggcctgtaaa	8	10	3	0	rs139817454	by1000genomes	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:57000083C>T	uc001slq.1	-	12	2407	c.2213G>A	c.(2212-2214)CGG>CAG	p.R738Q	BAZ2A_uc001slp.1_Missense_Mutation_p.R736Q|BAZ2A_uc009zov.1_5'Flank|BAZ2A_uc009zow.1_Missense_Mutation_p.R706Q	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	738	Lys-rich.|Potential.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding				0						CTCTTGTTTCCGCTTATTTCT	0.428													T	57000083	C	T	57000083	3	4	1	1	0	0	0	0	1	0	0	0	1331	652	23	1	3576	1	BAZ2A	12	57000083	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	172480	57000083	76851812	942	942											
NACA	4666	broad.mit.edu	37	chr12	57106630	57106630	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gctcggactgcctttgctctCgacacatttgcttgtgacat	9	12	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:57106630C>A	uc001slz.2	-	7	922	c.573G>T	c.(571-573)TCG>TCT	p.S191S	NACA_uc001sly.2_Silent_p.S191S|NACA_uc009zoy.1_Silent_p.S2054S|NACA_uc001smc.2_Silent_p.S191S|NACA_uc001sma.2_Silent_p.S901S|NACA_uc001smb.2_Silent_p.S191S|NACA_uc010squ.1_RNA	NM_001113201	NP_001106672	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha	191	UBA.				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			ovary(1)	1						CCTTTGCTCTCGACACATTTG	0.428			T	BCL6	NHL								A	57106630	C	A	57106630	2	1	1	1	0	0	0	0	0	0	0	1	10133	871	31	5		5	NACA	12	57106630	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	106547	57106630	76745265	943	943											
LRP1	4035	broad.mit.edu	37	chr12	57566979	57566979	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccctggtggctgccacacTgatgagttccagtgccggct	12	15	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:57566979T>C	uc001snd.2	+	21	3658	c.3192T>C	c.(3190-3192)ACT>ACC	p.T1064T		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1064	Extracellular (Potential).|LDL-receptor class A 8.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCTGCCACACTGATGAGTTCC	0.652											OREG0021936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	57566979	T	C	57566979	2	2	1	1	0	0	0	0	0	0	0	1	8951	1567	55	3		3	LRP1	12	57566979	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	460349	57566979	76284916	944	944											
R3HDM2	22864	broad.mit.edu	37	chr12	57652728	57652728	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttctgcccccgctggtccAtgctgtagtatttacaatga	9	12	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:57652728A>G	uc009zpm.1	-	18	2239	c.2204T>C	c.(2203-2205)ATG>ACG	p.M735T	R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_Missense_Mutation_p.M430T|R3HDM2_uc001snr.2_Missense_Mutation_p.M462T|R3HDM2_uc001sns.2_Missense_Mutation_p.M735T|R3HDM2_uc001snt.2_Missense_Mutation_p.M749T|R3HDM2_uc009zpn.1_Intron	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	735						nucleus	nucleic acid binding			ovary(2)	2						CCGCTGGTCCATGCTGTAGTA	0.567													G	57652728	A	G	57652728	3	3	1	1	0	0	0	0	1	0	0	0	12888	217	8	3	746	3	R3HDM2	12	57652728	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	85749	57652728	76199167	945	945											
OS9	10956	broad.mit.edu	37	chr12	58114666	58114666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggtggggagggcacaGgggacctggacgaatttgac	17	9	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:58114666G>A	uc001spj.2	+	15	2037	c.1978G>A	c.(1978-1980)GGG>AGG	p.G660R	OS9_uc010srx.1_Missense_Mutation_p.G399R|OS9_uc001spk.2_Missense_Mutation_p.G645R|OS9_uc001spl.2_Missense_Mutation_p.G605R|OS9_uc001spm.2_Missense_Mutation_p.G590R|OS9_uc001spn.2_Missense_Mutation_p.G606R|OS9_uc010sry.1_Missense_Mutation_p.G573R|OS9_uc010srz.1_Missense_Mutation_p.G531R	NM_006812	NP_006803	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum	660					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			ovary(1)	1	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGCACAGGGGACCTGGA	0.612													A	58114666	G	A	58114666	3	1	1	1	0	0	0	0	1	0	0	0	11272	1000	35	4	2036	4	OS9	12	58114666	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	461938	58114666	75737229	946	946											
USP15	9958	broad.mit.edu	37	chr12	62786091	62786091	+	Frame_Shift_Del	DEL	A	A	-													gtgtggagtataaacctcctAaaaaaccctttgtgaaatta							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:62786090_62786090TA>T	uc001src.2	+	17	2418	c.2343_2343TA>T	c.(2341-2343)cctfs	p.P781fs	USP15_uc001srb.2_Frame_Shift_Del_p.P752fs	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	781					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ATAAACCTCCTAAAAAACCCT	0.303													-	62786091	A	-	62786091	7	5	1	1	0	1	0	1	0	0	0	0	17043	363	13	0	2323	0	USP15	12	62786091	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	4671425	62786091	71065804	947	947											
USP15	9958	broad.mit.edu	37	chr12	62786960	62786960	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatgagagacaagttggatAccttagttgattttcctatc	8	7	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:62786960A>G	uc001src.1	+	19	2557	c.2548A>G	c.(2548-2550)ACC>GCC	p.T850A	USP15_uc001srb.1_Missense_Mutation_p.T821A	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	850					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)	3			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CAAGTTGGATACCTTAGTTGA	0.343													G	62786960	A	G	62786960	3	3	1	1	0	0	0	0	1	0	0	0	17043	391	14	3	2531	3	USP15	12	62786960	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	869	62786960	71064935	948	948											
MON2	23041	broad.mit.edu	37	chr12	62861070	62861070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgccttgtcactggagtGcaagaagaaattcccacctg	11	12	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:62861070G>A	uc001sre.2	+	1	474	c.83G>A	c.(82-84)TGC>TAC	p.C28Y	MON2_uc009zqj.2_Missense_Mutation_p.C28Y|MON2_uc010ssl.1_5'UTR|MON2_uc010ssm.1_Missense_Mutation_p.C28Y|MON2_uc010ssn.1_Missense_Mutation_p.C28Y|MON2_uc001srd.1_Missense_Mutation_p.C28Y	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	28					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TCACTGGAGTGCAAGAAGAAA	0.567													A	62861070	G	A	62861070	3	1	1	1	0	0	0	0	1	0	0	0	9700	1319	46	2	85	2	MON2	12	62861070	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	74110	62861070	70990825	949	949											
SRGAP1	57522	broad.mit.edu	37	chr12	64456869	64456869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggagatgtaccctgctgCgttctgtccaccaatgaagt	10	11	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:64456869C>T	uc010ssp.1	+	7	1030	c.974C>T	c.(973-975)GCG>GTG	p.A325V	SRGAP1_uc001srt.2_Missense_Mutation_p.A325V|SRGAP1_uc001srv.2_Missense_Mutation_p.A285V	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	325					axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TACCCTGCTGCGTTCTGTCCA	0.393													T	64456869	C	T	64456869	3	4	1	1	0	0	0	0	1	0	0	0	15144	768	27	1	1000	1	SRGAP1	12	64456869	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1595799	64456869	69395026	950	950											
C12orf56	115749	broad.mit.edu	37	chr12	64678530	64678530	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtataatttcaatgcaTgccctagaaaataaacgata	6	7	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:64678530T>C	uc001ssa.3	-	6	744	c.744A>G	c.(742-744)GCA>GCG	p.A248A	uc001srx.2_Intron|C12orf56_uc001sry.2_5'UTR|C12orf56_uc001srz.2_5'UTR	NM_001099676	NP_001093146	Q8IXR9	CL056_HUMAN	hypothetical protein LOC115749	411											0			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TTTCAATGCATGCCCTAGAAA	0.368													C	64678530	T	C	64678530	2	2	1	1	0	0	0	0	0	0	0	1	1700	1451	51	3		3	C12orf56	12	64678530	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	221661	64678530	69173365	951	951											
RAB3IP	117177	broad.mit.edu	37	chr12	70206762	70206762	+	Frame_Shift_Del	DEL	T	T	-													agatcacttctgtatgtaacTtttttacatacattcgatac							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:70206761_70206761CT>C	uc001svp.3	+	9	1743	c.1296_1296CT>C	c.(1294-1296)aacfs	p.N432fs	RAB3IP_uc001svm.3_Frame_Shift_Del_p.N416fs|RAB3IP_uc001svn.3_Frame_Shift_Del_p.T383fs|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_Frame_Shift_Del_p.T399fs|RAB3IP_uc001svs.3_Non-coding_Transcript|RAB3IP_uc001svt.3_Frame_Shift_Del_p.N210fs	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	432					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CTGTATGTAACTTTTTTACAT	0.348													-	70206762	T	-	70206762	7	5	1	1	0	1	0	1	0	0	0	0	12938	1609	56	0	1335	0	RAB3IP	12	70206762	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	5528232	70206762	63645133	952	952											
BBS10	79738	broad.mit.edu	37	chr12	76741004	76741004	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttactatcaccattcgcatgTcaccatctgctgggcggtac	8	13	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:76741004T>C	uc001syd.1	-	2	845	c.761A>G	c.(760-762)GAC>GGC	p.D254G		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	254					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			ovary(1)|skin(1)	2						CATTCGCATGTCACCATCTGC	0.423									Bardet-Biedl_syndrome				C	76741004	T	C	76741004	3	2	1	1	0	0	0	0	1	0	0	0	1336	1667	58	3	1414	3	BBS10	12	76741004	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	6534242	76741004	57110891	953	953											
CSRP2	1466	broad.mit.edu	37	chr12	77252786	77252786	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatagccaaatcccttgggCccaaagttctttgcatagca	7	13	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:77252786C>T	uc001syl.1	-	6	611	c.528G>A	c.(526-528)GGG>GGA	p.G176G		NM_001321	NP_001312	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	176	Gly-rich.				multicellular organismal development	nucleus	zinc ion binding			ovary(1)	1						ATCCCTTGGGCCCAAAGTTCT	0.453													T	77252786	C	T	77252786	2	4	1	1	0	0	0	0	0	0	0	1	3967	726	26	2		2	CSRP2	12	77252786	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	511782	77252786	56599109	954	954											
NAV3	89795	broad.mit.edu	37	chr12	78582508	78582508	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgcctgaattgctgccTtgtggataccttgttggaga	13	7	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:78582508T>A	uc001syp.2	+	33	6179	c.6006T>A	c.(6004-6006)CCT>CCA	p.P2002P	NAV3_uc001syo.2_Silent_p.P1980P|NAV3_uc010sub.1_Silent_p.P1459P|NAV3_uc009zsf.2_Silent_p.P811P	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	2002						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						AATTGCTGCCTTGTGGATACC	0.383										HNSCC(70;0.22)			A	78582508	T	A	78582508	2	1	1	1	0	0	0	0	0	0	0	1	10185	1596	56	5		5	NAV3	12	78582508	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1329722	78582508	55269387	955	955											
MYF6	4618	broad.mit.edu	37	chr12	81101622	81101622	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggagtgatggtaccttgTccccctgccaggaccaaatg	12	12	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:81101622T>C	uc001szf.1	+	1	177	c.124T>C	c.(124-126)TCC>CCC	p.S42P		NM_002469	NP_002460	P23409	MYF6_HUMAN	myogenic factor 6	42					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						TGGTACCTTGTCCCCCTGCCA	0.597													C	81101622	T	C	81101622	3	2	1	1	0	0	0	0	1	0	0	0	10028	1667	58	3	126	3	MYF6	12	81101622	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	2519114	81101622	52750273	956	956											
PPFIA2	8499	broad.mit.edu	37	chr12	81769649	81769649	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcatgtatggaggtagattCtctctgagcactgaggtaac	12	7	3	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:81769649C>T	uc001szo.1	-	10	1218	c.1057G>A	c.(1057-1059)GAA>AAA	p.E353K	PPFIA2_uc010sue.1_Missense_Mutation_p.E253K|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	279										ovary(3)|lung(2)|pancreas(1)	6						GAGGTAGATTCTCTCTGAGCA	0.368													T	81769649	C	T	81769649	3	4	1	1	0	0	0	0	1	0	0	0	12310	922	32	4	2808	4	PPFIA2	12	81769649	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	668027	81769649	52082246	957	957											
LRRIQ1	84125	broad.mit.edu	37	chr12	85441250	85441250	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attagagaacattcagaaggTattttgcttttgtttttcat	7	4	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:85441250T>C	uc001tac.2	+	6	789	c.678_splice	c.e6+2	p.K226_splice	LRRIQ1_uc001tab.1_Splice_Site_p.K226_splice|LRRIQ1_uc001taa.1_Splice_Site_p.K226_splice|LRRIQ1_uc001tad.2_Missense_Mutation_p.V135A	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1											ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		ATTCAGAAGGTATTTTGCTTT	0.294													C	85441250	T	C	85441250	5	2	1	1	0	0	0	0	0	0	1	0	9029	1652	57	3	698	3	LRRIQ1	12	85441250	Splice_Site	SNP	T	TCGA-B7-5816-01A-21D-1600-08	3671601	85441250	48410645	958	958											
TMPO	7112	broad.mit.edu	37	chr12	98921765	98921765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggatcagcttgtgaaataCggagtgaatcctggtcctat	11	7	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:98921765C>T	uc001tfj.2	+	2	618	c.381C>T	c.(379-381)TAC>TAT	p.Y127Y	TMPO_uc001tfi.1_Silent_p.Y127Y|TMPO_uc001tfk.2_Silent_p.Y127Y|TMPO_uc001tfl.2_RNA|TMPO_uc001tfh.1_Silent_p.Y127Y	NM_001032283	NP_001027454	P42167	LAP2B_HUMAN	thymopoietin isoform beta	127	Nucleoplasmic (Potential).|LEM.					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	p.Y127H(1)		ovary(2)	2						TTGTGAAATACGGAGTGAATC	0.348													T	98921765	C	T	98921765	2	4	1	1	0	0	0	0	0	0	0	1	16234	547	19	1		1	TMPO	12	98921765	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	13480515	98921765	34930130	959	959											
BTBD11	121551	broad.mit.edu	37	chr12	108004005	108004005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatctcgaaagctggatgCggtggccatcgaagccaagt	13	10	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:108004005C>T	uc001tmk.1	+	5	2203	c.1682C>T	c.(1681-1683)GCG>GTG	p.A561V	BTBD11_uc009zut.1_Missense_Mutation_p.A561V|BTBD11_uc001tmj.2_Missense_Mutation_p.A561V|BTBD11_uc001tml.1_Missense_Mutation_p.A98V	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	561						integral to membrane	DNA binding			skin(2)|ovary(1)	3						AAGCTGGATGCGGTGGCCATC	0.582											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	108004005	C	T	108004005	3	4	1	1	0	0	0	0	1	0	0	0	1539	768	27	1	1805	1	BTBD11	12	108004005	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	9082240	108004005	25847890	960	960											
TCHP	84260	broad.mit.edu	37	chr12	110353251	110353251	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgggaagcagaccagcaggAggaggaggaagaggaggagg	21	4	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:110353251A>C	uc001tpn.2	+	12	1517	c.1364A>C	c.(1363-1365)GAG>GCG	p.E455A	TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Missense_Mutation_p.E455A	NM_001143852	NP_001137324	Q9BT92	TCHP_HUMAN	trichoplein	455	Glu-rich.|Potential.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			skin(1)	1						GACCAGCaggaggaggaggaa	0.577													C	110353251	A	C	110353251	3	2	1	1	0	0	0	0	1	0	0	0	15699	304	11	5	1406	5	TCHP	12	110353251	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	2349246	110353251	23498644	961	961											
ACAD10	80724	broad.mit.edu	37	chr12	112185160	112185160	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggaggacagcttctatgTcataaacggtcacaaatggt	11	7	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:112185160T>C	uc001tsq.2	+	16	2656	c.2456T>C	c.(2455-2457)GTC>GCC	p.V819A	ACAD10_uc001tsp.2_Missense_Mutation_p.V819A|ACAD10_uc009zvx.2_Missense_Mutation_p.V850A|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	819							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						AGCTTCTATGTCATAAACGGT	0.498													C	112185160	T	C	112185160	3	2	1	1	0	0	0	0	1	0	0	0	108	1667	58	3	2611	3	ACAD10	12	112185160	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1831909	112185160	21666735	962	962											
PTPN11	5781	broad.mit.edu	37	chr12	112926270	112926270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaattggccggacagggaCgttcattgtgattgatattc	13	6	1	2	rs121918457		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:112926270C>T	uc001ttx.2	+	12	1783	c.1403C>T	c.(1402-1404)ACG>ATG	p.T468M		NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	472	Tyrosine-protein phosphatase.		T -> M (in LEOPARD1).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392						CGGACAGGGACGTTCATTGTG	0.443			Mis		JMML|AML|MDS		Noonan Syndrome		Noonan_syndrome				T	112926270	C	T	112926270	3	4	1	1	0	0	0	0	1	0	0	0	12780	536	19	1	1449	1	PTPN11	12	112926270	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	741110	112926270	20925625	963	963											
OAS2	4939	broad.mit.edu	37	chr12	113435331	113435331	+	Frame_Shift_Del	DEL	A	A	-													tccttatcccacagtgccagAaaaaaatcaaggatttaccc							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:113435330_113435330GA>G	uc001tuj.3	+	3	773	c.633_633GA>G	c.(631-633)cagfs	p.Q211fs	OAS2_uc001tui.1_Frame_Shift_Del_p.Q211fs	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	211	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CACAGTGCCAGAAAAAAATCA	0.483													-	113435331	A	-	113435331	7	5	1	1	0	1	0	1	0	0	0	0	10800	247	9	0	719	0	OAS2	12	113435331	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	509061	113435331	20416564	964	964											
DTX1	1840	broad.mit.edu	37	chr12	113515274	113515274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctacgacccgtcgtcggCgccgggcaagggcatcgtgt	14	14	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:113515274C>T	uc001tuk.1	+	2	641	c.305C>T	c.(304-306)GCG>GTG	p.A102V		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	102	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						CCGTCGTCGGCGCCGGGCAAG	0.652													T	113515274	C	T	113515274	3	4	1	1	0	0	0	0	1	0	0	0	4793	768	27	1	311	1	DTX1	12	113515274	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	79943	113515274	20336621	965	965											
RNFT2	84900	broad.mit.edu	37	chr12	117204721	117204721	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagcagctgtacaacaggTgagcatgggaatccaacccc	10	14	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:117204721T>C	uc009zwn.2	+	6	961	c.728_splice	c.e6+2	p.S243_splice	RNFT2_uc001twb.3_Splice_Site_p.S243_splice|RNFT2_uc001twa.3_Splice_Site_p.S153_splice|RNFT2_uc001twc.3_Splice_Site	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	transmembrane protein 118 isoform 1							integral to membrane	zinc ion binding				0	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GTACAACAGGTGAGCATGGGA	0.552													C	117204721	T	C	117204721	5	2	1	1	0	0	0	0	0	0	1	0	13502	1710	59	3	748	3	RNFT2	12	117204721	Splice_Site	SNP	T	TCGA-B7-5816-01A-21D-1600-08	3689447	117204721	16647174	966	966											
RNF34	80196	broad.mit.edu	37	chr12	121858580	121858580	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgaagaaaaccaaaagtcCtgtaggtttatcttttcatt	6	6	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:121858580C>A	uc001ual.1	+	5	1041	c.927C>A	c.(925-927)TCC>TCA	p.S309S	RNF34_uc001uak.1_Silent_p.S310S|RNF34_uc001uam.1_Silent_p.S309S	NM_025126	NP_079402	Q969K3	RNF34_HUMAN	ring finger protein 34 isoform 2	309					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		ACCAAAAGTCCTGTAGGTTTA	0.328													A	121858580	C	A	121858580	2	1	1	1	0	0	0	0	0	0	0	1	13489	695	24	5		5	RNF34	12	121858580	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	4653859	121858580	11993315	967	967											
LRRC43	254050	broad.mit.edu	37	chr12	122684857	122684857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgctggcggggaccaccGtgaccatcgtggaggagaag	16	11	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:122684857G>A	uc009zxm.2	+	8	1496	c.1471G>A	c.(1471-1473)GTG>ATG	p.V491M	LRRC43_uc001ubw.3_Missense_Mutation_p.V306M|LRRC43_uc009zxn.2_Missense_Mutation_p.V252M	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	491											0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GGGGACCACCGTGACCATCGT	0.642													A	122684857	G	A	122684857	3	1	1	1	0	0	0	0	1	0	0	0	9001	1145	40	1	1501	1	LRRC43	12	122684857	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	826277	122684857	11167038	968	968											
LRRC43	254050	broad.mit.edu	37	chr12	122685346	122685346	+	Frame_Shift_Del	DEL	C	C	-													cccaaggagctccggcaggaCccccccatcctccaggtgct							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:122685345_122685345AC>A	uc009zxm.3	+	9	1698	c.1673_1673AC>A	c.(1672-1674)gacfs	p.D558fs	LRRC43_uc001ubw.4_Frame_Shift_Del_p.D373fs|LRRC43_uc009zxn.3_Frame_Shift_Del_p.D319fs|B3GNT4_uc001ubx.3_5'Flank|B3GNT4_uc001uby.3_5'Flank	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	558										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCCGGCAGGACCCCCCCATC	0.667													-	122685346	C	-	122685346	7	5	1	1	0	1	0	1	0	0	0	0	9001	506	18	0	1712	0	LRRC43	12	122685346	Frame_Shift_Del	DEL	C	TCGA-B7-5816-01A-21D-1600-08	489	122685346	11166549	969	969											
KNTC1	9735	broad.mit.edu	37	chr12	123105091	123105091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatatccagttagaacttcCggcttttgcattagcttgtc	8	9	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:123105091C>T	uc001ucv.2	+	60	6378	c.6215C>T	c.(6214-6216)CCG>CTG	p.P2072L	KNTC1_uc010taf.1_Missense_Mutation_p.P997L|GPR81_uc001ucw.1_RNA	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	2072					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTAGAACTTCCGGCTTTTGCA	0.458													T	123105091	C	T	123105091	3	4	1	1	0	0	0	0	1	0	0	0	8428	652	23	1	6449	1	KNTC1	12	123105091	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	419745	123105091	10746804	970	970											
GPR81	27198	broad.mit.edu	37	chr12	123214587	123214587	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaggaacacgatgctcccGgccctgttcatggccaacgt	11	13	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:123214587G>A	uc001ucz.2	-	1	543	c.300C>T	c.(298-300)GCC>GCT	p.A100A	GPR81_uc001ucw.1_RNA	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	G protein-coupled receptor 81	100	Helical; Name=3; (Potential).				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CGATGCTCCCGGCCCTGTTCA	0.597													A	123214587	G	A	123214587	2	1	1	1	0	0	0	0	0	0	0	1	6711	1103	39	1		1	GPR81	12	123214587	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	109496	123214587	10637308	971	971											
NCOR2	9612	broad.mit.edu	37	chr12	124821440	124821440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcttcgcaggggtgcgggCgatggtggcgtggccagaga	20	8	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:124821440C>T	uc010tay.1	-	40	6160	c.6004G>A	c.(6004-6006)GCC>ACC	p.A2002T	NCOR2_uc010taz.1_Missense_Mutation_p.A1986T|NCOR2_uc010tax.1_Missense_Mutation_p.A113T	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	2003					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGGTGCGGGCGATGGTGGCG	0.736													T	124821440	C	T	124821440	3	4	1	1	0	0	0	0	1	0	0	0	10236	768	27	1	1610	1	NCOR2	12	124821440	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1606853	124821440	9030455	972	972											
DHX37	57647	broad.mit.edu	37	chr12	125432653	125432653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggtttttcttccaagcaGccagcaaggcttcatggcag	12	10	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:125432653G>A	uc001ugy.2	-	26	3464	c.3365C>T	c.(3364-3366)GCT>GTT	p.A1122V	DHX37_uc001ugz.1_Missense_Mutation_p.A209V	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1122							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CTTCCAAGCAGCCAGCAAGGC	0.597													A	125432653	G	A	125432653	3	1	1	1	0	0	0	0	1	0	0	0	4510	971	34	2	116	2	DHX37	12	125432653	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	611213	125432653	8419242	973	973											
FZD10	11211	broad.mit.edu	37	chr12	130648814	130648814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggagaagctcatggtgCgtatcgggctcttctctgtg	14	9	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:130648814C>T	uc001uii.2	+	1	1783	c.1327C>T	c.(1327-1329)CGT>TGT	p.R443C	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	443	Cytoplasmic (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GCTCATGGTGCGTATCGGGCT	0.582													T	130648814	C	T	130648814	3	4	1	1	0	0	0	0	1	0	0	0	6129	768	27	1	1329	1	FZD10	12	130648814	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	5216161	130648814	3203081	974	974											
GPR133	283383	broad.mit.edu	37	chr12	131490544	131490544	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccgtcgtgggtctgctgtAccacagcatgcactactacc	9	15	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:131490544A>G	uc001uit.3	+	12	1842	c.1283A>G	c.(1282-1284)TAC>TGC	p.Y428C	GPR133_uc010tbm.1_Missense_Mutation_p.Y460C	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	428	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GGTCTGCTGTACCACAGCATG	0.632													G	131490544	A	G	131490544	3	3	1	1	0	0	0	0	1	0	0	0	6643	391	14	3	1329	3	GPR133	12	131490544	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	841730	131490544	2361351	975	975											
EP400	57634	broad.mit.edu	37	chr12	132472386	132472386	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaggagatgcagtggatggCcacagactttgcccaggaga	16	8	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:132472386C>A	uc001ujn.2	+	6	2395	c.2360C>A	c.(2359-2361)GCC>GAC	p.A787D	EP400_uc001ujl.2_Missense_Mutation_p.A786D|EP400_uc001ujm.2_Missense_Mutation_p.A787D|EP400_uc001ujj.1_Missense_Mutation_p.A750D|EP400_uc001ujk.2_Missense_Mutation_p.A823D	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	823	HSA.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGTGGATGGCCACAGACTTT	0.617													A	132472386	C	A	132472386	3	1	1	1	0	0	0	0	1	0	0	0	5149	739	26	5	2379	5	EP400	12	132472386	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	981842	132472386	1379509	976	976											
EP400	57634	broad.mit.edu	37	chr12	132490715	132490715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttggttctcatcgactcGcttttcatcatggatcagtt	8	10	4	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:132490715G>A	uc001ujn.2	+	13	3029	c.2994G>A	c.(2992-2994)TCG>TCA	p.S998S	EP400_uc001ujl.2_Silent_p.S997S|EP400_uc001ujm.2_Silent_p.S998S	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1034	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCATCGACTCGCTTTTCATCA	0.522													A	132490715	G	A	132490715	2	1	1	1	0	0	0	0	0	0	0	1	5149	1074	38	1		1	EP400	12	132490715	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	18329	132490715	1361180	977	977											
DDX51	317781	broad.mit.edu	37	chr12	132625272	132625272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgaggctgcagggcacGtagtggtgctacagggacgg	19	8	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:132625272G>A	uc001ujy.3	-	10	1488	c.1449C>T	c.(1447-1449)TAC>TAT	p.Y483Y		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	483					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			lung(1)|pancreas(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		TGCAGGGCACGTAGTGGTGCT	0.627													A	132625272	G	A	132625272	2	1	1	1	0	0	0	0	0	0	0	1	4369	1140	40	1		1	DDX51	12	132625272	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	134557	132625272	1226623	978	978											
SKA3	221150	broad.mit.edu	37	chr13	21742240	21742240	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttacacactcaaaatcatcCatttttagtgcacattttgg	5	9	2	0	rs147994613		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:21742240C>A	uc001unt.2	-	4	724	c.630G>T	c.(628-630)ATG>ATT	p.M210I	SKA3_uc001unv.2_Missense_Mutation_p.M128I|SKA3_uc001unu.2_Missense_Mutation_p.M210I	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN	SKA3	210					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding				0						CAAAATCATCCATTTTTAGTG	0.343													A	21742240	C	A	21742240	3	1	1	1	0	0	0	0	1	0	0	0	14354	594	21	5	679	5	SKA3	13	21742240	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08		21742240	93427638	979	979											
SACS	26278	broad.mit.edu	37	chr13	23913780	23913780	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggttccacagaatcttcaAgtaagtcattaaggtcatca	7	8	5	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:23913780A>G	uc001uon.2	-	10	4824	c.4235T>C	c.(4234-4236)CTT>CCT	p.L1412P	SACS_uc001uoo.2_Missense_Mutation_p.L1265P|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1412					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGAATCTTCAAGTAAGTCATT	0.358													G	23913780	A	G	23913780	3	3	1	1	0	0	0	0	1	0	0	0	13804	72	3	3	9508	3	SACS	13	23913780	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	2171540	23913780	91256098	980	980											
RNF17	56163	broad.mit.edu	37	chr13	25370393	25370393	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgaatgaattttgcaaTaggagttcacaccttgatcc	9	7	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:25370393T>C	uc001upr.2	+	11	1400	c.1359T>C	c.(1357-1359)AAT>AAC	p.N453N	RNF17_uc010tdd.1_Silent_p.N312N|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.N453N|RNF17_uc001ups.2_Silent_p.N392N|RNF17_uc001upq.1_3'UTR	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	453					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AATTTTGCAATAGGAGTTCAC	0.308													C	25370393	T	C	25370393	2	2	1	1	0	0	0	0	0	0	0	1	13461	1403	49	3		3	RNF17	13	25370393	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1456613	25370393	89799485	981	981											
POLR1D	51082	broad.mit.edu	37	chr13	28240022	28240022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttccgcgctcgaggttccGccagttactccccgccacga	10	18	0	0	rs141669019		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:28240022G>A	uc001urp.2	+	3	419	c.301G>A	c.(301-303)GCC>ACC	p.A101T	POLR1D_uc010aam.2_Missense_Mutation_p.A73T|POLR1D_uc001urq.2_RNA	NM_152705	NP_689918	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D isoform 2	Error:Variant_position_missing_in_Q9Y2S0_after_alignment					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		TCGAGGTTCCGCCAGTTACTC	0.612													A	28240022	G	A	28240022	3	1	1	1	0	0	0	0	1	0	0	0	12212	1087	38	1	691	1	POLR1D	13	28240022	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2869629	28240022	86929856	982	982											
CDX2	1045	broad.mit.edu	37	chr13	28537278	28537279	+	Frame_Shift_Ins	INS	-	-	C													gtgacggtggggtttagcacINSccccccagttggccccagaa					rs142861632		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:28537277_28537278A>AC	uc001urv.3	-	2	1090_1091	c.916_917T>GT	c.(916-918)gtgfs	p.V306fs		NM_001265	NP_001256	Q99626	CDX2_HUMAN	Homo sapiens caudal type homeobox 2 (CDX2), mRNA.	306					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GGGGTTTAGCACCCCCCCAGTT	0.629			T	ETV6	AML								C	28537279	-	C	28537278	7	5	1	1	0	1	1	0	0	0	0	0	3183	507	18	0	29	0	CDX2	13	28537278	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	297256	28537278	86632600	983	983											
USPL1	10208	broad.mit.edu	37	chr13	31232078	31232078	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatacaggaattctcaaaAccaatactttgctatcacaa	3	9	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:31232078A>C	uc001utc.2	+	9	2296	c.1864A>C	c.(1864-1866)ACC>CCC	p.T622P	USPL1_uc001utd.2_Missense_Mutation_p.T293P|USPL1_uc001ute.1_Missense_Mutation_p.T293P	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	622					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(2)|skin(1)	3		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AATTCTCAAAACCAATACTTT	0.348													C	31232078	A	C	31232078	3	2	1	1	0	0	0	0	1	0	0	0	17089	43	2	5	1894	5	USPL1	13	31232078	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	2694800	31232078	83937800	984	984											
PDS5B	23047	broad.mit.edu	37	chr13	33315227	33315227	+	Frame_Shift_Del	DEL	A	A	-													tttatttttagcttccagggAaaaagacaactaaactttgg							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:33315226_33315226GA>G	uc010abf.3	+	21	2601	c.2415_2415GA>G	c.(2413-2415)gggfs	p.G805fs	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	805					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGCTTCCAGGGAAAAAGACAA	0.294													-	33315227	A	-	33315227	7	5	1	1	0	1	0	1	0	0	0	0	11692	247	9	0	2498	0	PDS5B	13	33315227	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	2083149	33315227	81854651	985	985											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37679304	37679304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgatgcccagataaacGtctccaaaggagccagaccc	11	12	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:37679304G>A	uc001uwm.1	-	1	498	c.90C>T	c.(88-90)GAC>GAT	p.D30D		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	30	ATP (By similarity).|Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)	1		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CCAGATAAACGTCTCCAAAGG	0.537													A	37679304	G	A	37679304	2	1	1	1	0	0	0	0	0	0	0	1	3951	1136	40	1		1	CSNK1A1L	13	37679304	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	4364077	37679304	77490574	986	986											
TRPC4	7223	broad.mit.edu	37	chr13	38211583	38211583	+	Frame_Shift_Del	DEL	A	A	-													tgaatcagggtggttaaatcAaaaaggctgaaattcttttt							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:38211582_38211582CA>C	uc010abx.3	-	10	2642	c.2407_2407TG>G	c.(2407-2409)gatfs	p.D803fs	TRPC4_uc010abv.3_Frame_Shift_Del_p.D378fs|TRPC4_uc001uwt.3_Intron|TRPC4_uc001uws.3_Frame_Shift_Del_p.D798fs|TRPC4_uc010tey.2_Intron|TRPC4_uc010abw.3_Frame_Shift_Del_p.D625fs|TRPC4_uc010aby.3_Intron	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	798	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.L802L(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GTGGTTAAATCAAAAAGGCTG	0.463													-	38211583	A	-	38211583	7	5	1	1	0	1	0	1	0	0	0	0	16577	127	5	0	546	0	TRPC4	13	38211583	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	532279	38211583	76958295	987	987											
C13orf23	80209	broad.mit.edu	37	chr13	39585610	39585610	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctggatagctttccagagcCgaagctgaatggacctgatg	13	9	0	3	rs138416326		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:39585610C>A	uc001uwy.2	-	13	3600	c.2727G>T	c.(2725-2727)TCG>TCT	p.S909S	C13orf23_uc001uwz.2_Silent_p.S887S	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	909										ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)		TTTCCAGAGCCGAAGCTGAAT	0.507													A	39585610	C	A	39585610	2	1	1	1	0	0	0	0	0	0	0	1	1721	639	23	5		5	C13orf23	13	39585610	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1374027	39585610	75584268	988	988											
C13orf23	80209	broad.mit.edu	37	chr13	39608303	39608303	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatccatgcacatattcaaTtgcttttaatttgtattctg	5	7	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:39608303T>C	uc001uwy.2	-	2	949	c.76A>G	c.(76-78)ATT>GTT	p.I26V	C13orf23_uc001uwz.2_Intron	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	26										ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)		ACATATTCAATTGCTTTTAAT	0.303													C	39608303	T	C	39608303	3	2	1	1	0	0	0	0	1	0	0	0	1721	1493	52	3	2806	3	C13orf23	13	39608303	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	22693	39608303	75561575	989	989											
NHLRC3	387921	broad.mit.edu	37	chr13	39613801	39613801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcatggtatatttgcagCcagtactctatatgaacaat	6	9	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:39613801C>T	uc001uxc.2	+	3	660	c.338C>T	c.(337-339)GCC>GTC	p.A113V	C13orf23_uc001uwy.2_5'Flank|C13orf23_uc001uwz.2_5'Flank|NHLRC3_uc001uxa.1_Missense_Mutation_p.A113V|NHLRC3_uc001uxb.1_Missense_Mutation_p.A113V|NHLRC3_uc001uxd.2_Missense_Mutation_p.A113V|NHLRC3_uc001uxe.2_5'UTR	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3 isoform a	113						extracellular region				skin(1)	1		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		ATATTTGCAGCCAGTACTCTA	0.383													T	39613801	C	T	39613801	3	4	1	1	0	0	0	0	1	0	0	0	10407	739	26	2	348	2	NHLRC3	13	39613801	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	5498	39613801	75556077	990	990											
NAA16	79612	broad.mit.edu	37	chr13	41941577	41941577	+	Splice_Site	DEL	T	T	-													gtgatttttgtttttaagcaTttttttgagataactgatga							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:41941576_41941576AT>A	uc001uyf.2	+	14	1864	c.1540_splice	c.e14-1	p.H514_splice	NAA16_uc010tfg.1_Splice_Site	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	Homo sapiens N(alpha)-acetyltransferase 16, NatA auxiliary subunit (NAA16), transcript variant 1, mRNA.	514					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						GTTTTTAAGCATTTTTTTGAG	0.289													-	41941577	T	-	41941577	8	5	1	1	0	1	0	1	0	0	1	0	10119	1490	52	0	1629	0	NAA16	13	41941577	Splice_Site	DEL	T	TCGA-B7-5816-01A-21D-1600-08	2327776	41941577	73228301	991	991											
TSC22D1	8848	broad.mit.edu	37	chr13	45148680	45148680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggtcacaccttggagagCtggttgttgctgttgttgtt	15	6	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:45148680C>T	uc001uzn.3	-	1	2022	c.1531G>A	c.(1531-1533)GCT>ACT	p.A511T	TSC22D1_uc001uzo.1_Missense_Mutation_p.A511T	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	511	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CCTTGGAGAGCTGgttgttgc	0.398													T	45148680	C	T	45148680	3	4	1	1	0	0	0	0	1	0	0	0	16604	797	28	2	1831	2	TSC22D1	13	45148680	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3207103	45148680	70021198	992	992											
RB1	5925	broad.mit.edu	37	chr13	49039361	49039361	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccctaccttgtcaccaatAcctcacattcctcgaagccc	3	20	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:49039361A>G	uc001vcb.2	+	23	2512	c.2346A>G	c.(2344-2346)ATA>ATG	p.I782M		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	782	Interaction with LIMD1.|Domain C; mediates interaction with E4F1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(7)|p.I782fs*28(1)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTCACCAATACCTCACATTC	0.378		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			G	49039361	A	G	49039361	3	3	1	1	0	0	0	0	1	0	0	0	13098	381	14	3	2436	3	RB1	13	49039361	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	3890681	49039361	66130517	993	993											
RCBTB2	1102	broad.mit.edu	37	chr13	49084844	49084844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactgcccataagaattggCgccccaagcatacacttggc	8	14	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:49084844C>T	uc001vch.2	-	10	1218	c.847G>A	c.(847-849)GCC>ACC	p.A283T	RCBTB2_uc010tgg.1_Missense_Mutation_p.A288T|RCBTB2_uc001vci.2_Missense_Mutation_p.A259T|RCBTB2_uc010tgh.1_Intron|RCBTB2_uc001vcj.2_Intron|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_Intron	NM_001268	NP_001259	O95199	RCBT2_HUMAN	regulator of chromosome condensation and BTB	283	RCC1 5.						Ran guanyl-nucleotide exchange factor activity			ovary(2)|lung(2)|skin(1)	5		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TAAGAATTGGCGCCCCAAGCA	0.473													T	49084844	C	T	49084844	3	4	1	1	0	0	0	0	1	0	0	0	13172	768	27	1	832	1	RCBTB2	13	49084844	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	45483	49084844	66085034	994	994											
SETDB2	83852	broad.mit.edu	37	chr13	50065970	50065970	+	Frame_Shift_Del	DEL	A	A	-													tgtggggttaataaatgtagAaaaaaaatattataaatatg							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:50065969_50065969GA>G	uc001vcz.3	+	14	3050	c.2144_2144GA>G	c.(2143-2145)agafs	p.R715fs	SETDB2_uc001vda.3_Frame_Shift_Del_p.R703fs	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	Homo sapiens SET domain, bifurcated 2 (SETDB2), transcript variant 1, mRNA.	715					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		AATAAATGTAGAAAAAAAATA	0.373													-	50065970	A	-	50065970	7	5	1	1	0	1	0	1	0	0	0	0	14139	243	9	0	2199	0	SETDB2	13	50065970	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	981126	50065970	65103908	995	995											
THSD1	55901	broad.mit.edu	37	chr13	52952823	52952823	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgatgagcacagtggcaaTgatgatgaacaagcacaagg	13	7	0	5			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:52952823T>C	uc001vgo.2	-	5	1827	c.1282A>G	c.(1282-1284)ATT>GTT	p.I428V	THSD1_uc001vgp.2_Missense_Mutation_p.I375V|THSD1_uc010tgz.1_Missense_Mutation_p.I49V|THSD1_uc010aea.2_5'UTR	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	428	Helical; (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ACAGTGGCAATGATGATGAAC	0.562													C	52952823	T	C	52952823	3	2	1	1	0	0	0	0	1	0	0	0	15874	1464	51	3	1280	3	THSD1	13	52952823	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	2886853	52952823	62217055	996	996											
PCDH17	27253	broad.mit.edu	37	chr13	58208600	58208600	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgtttgagatcgacccGtccagcggcgagatccgcac	11	15	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:58208600G>A	uc001vhq.1	+	1	2812	c.1920G>A	c.(1918-1920)CCG>CCA	p.P640P	PCDH17_uc010aec.1_Silent_p.P640P	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	640	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGATCGACCCGTCCAGCGGCG	0.647													A	58208600	G	A	58208600	2	1	1	1	0	0	0	0	0	0	0	1	11512	1132	40	1		1	PCDH17	13	58208600	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	5255777	58208600	56961278	997	997											
PCDH9	5101	broad.mit.edu	37	chr13	67800109	67800109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaatgaccaccatggcacCggcgatgatggcaatcatga	10	11	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:67800109C>T	uc001vik.2	-	2	3156	c.2464G>A	c.(2464-2466)GGT>AGT	p.G822S	PCDH9_uc001vil.2_Missense_Mutation_p.G822S|PCDH9_uc010thl.1_Missense_Mutation_p.G822S|PCDH9_uc001vin.3_Missense_Mutation_p.G822S	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	822	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACCATGGCACCGGCGATGATG	0.527													T	67800109	C	T	67800109	3	4	1	1	0	0	0	0	1	0	0	0	11518	652	23	1	1265	1	PCDH9	13	67800109	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	9591509	67800109	47369769	998	998											
PCDH9	5101	broad.mit.edu	37	chr13	67801921	67801921	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactttgattttcatcacatAggtatctttctgttctctat	4	8	5	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:67801921A>G	uc001vik.2	-	2	1344	c.652T>C	c.(652-654)TAT>CAT	p.Y218H	PCDH9_uc001vil.2_Missense_Mutation_p.Y218H|PCDH9_uc010thl.1_Missense_Mutation_p.Y218H|PCDH9_uc001vin.3_Missense_Mutation_p.Y218H	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	218	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTCATCACATAGGTATCTTTC	0.448													G	67801921	A	G	67801921	3	3	1	1	0	0	0	0	1	0	0	0	11518	420	15	3	3077	3	PCDH9	13	67801921	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1812	67801921	47367957	999	999											
SLITRK5	26050	broad.mit.edu	37	chr13	88329745	88329745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccagagcgaccacaccaGcaccaacaactccgacgtga	8	16	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:88329745G>A	uc001vln.2	+	2	2321	c.2102G>A	c.(2101-2103)AGC>AAC	p.S701N	SLITRK5_uc010tic.1_Missense_Mutation_p.S460N	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	701	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GACCACACCAGCACCAACAAC	0.632													A	88329745	G	A	88329745	3	1	1	1	0	0	0	0	1	0	0	0	14746	971	34	2	2104	2	SLITRK5	13	88329745	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	20527824	88329745	26840133	1000	1000											
SLITRK5	26050	broad.mit.edu	37	chr13	88330384	88330384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacagcaggctacgggaacCggtgctctacagccccccga	13	15	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:88330384C>T	uc001vln.2	+	2	2960	c.2741C>T	c.(2740-2742)CCG>CTG	p.P914L	SLITRK5_uc010tic.1_Missense_Mutation_p.P673L	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	914	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTACGGGAACCGGTGCTCTAC	0.567													T	88330384	C	T	88330384	3	4	1	1	0	0	0	0	1	0	0	0	14746	652	23	1	2743	1	SLITRK5	13	88330384	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	639	88330384	26839494	1001	1001											
SLITRK5	26050	broad.mit.edu	37	chr13	88330402	88330402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggtgctctacagcccccCgagtgctgtctttgtagaac	10	14	2	1	rs139601648		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:88330402C>T	uc001vln.2	+	2	2978	c.2759C>T	c.(2758-2760)CCG>CTG	p.P920L	SLITRK5_uc010tic.1_Missense_Mutation_p.P679L	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	920	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TACAGCCCCCCGAGTGCTGTC	0.542													T	88330402	C	T	88330402	3	4	1	1	0	0	0	0	1	0	0	0	14746	652	23	1	2761	1	SLITRK5	13	88330402	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	18	88330402	26839476	1002	1002											
GPC6	10082	broad.mit.edu	37	chr13	94938667	94938667	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attgagtcggtcatggacccGatagatgtcaagatttctga	11	7	3	4	rs138238361		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:94938667G>A	uc001vlt.2	+	5	1574	c.942G>A	c.(940-942)CCG>CCA	p.P314P	GPC6_uc010tig.1_Silent_p.P314P	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	314						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TCATGGACCCGATAGATGTCA	0.418													A	94938667	G	A	94938667	2	1	1	1	0	0	0	0	0	0	0	1	6602	1045	37	1		1	GPC6	13	94938667	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	6608265	94938667	20231211	1003	1003											
FARP1	10160	broad.mit.edu	37	chr13	99047705	99047705	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gataggacccagcagagtaaAcctcagcccccgcagccaag	10	15	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:99047705A>G	uc001vnj.2	+	13	1725	c.1389A>G	c.(1387-1389)AAA>AAG	p.K463K	FARP1_uc001vnh.2_Silent_p.K463K	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	463					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGCAGAGTAAACCTCAGCCCC	0.612													G	99047705	A	G	99047705	2	3	1	1	0	0	0	0	0	0	0	1	5676	40	2	3		3	FARP1	13	99047705	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	4109038	99047705	16122173	1004	1004											
FARP1	10160	broad.mit.edu	37	chr13	99092237	99092237	+	Frame_Shift_Del	DEL	G	G	-													tgaggagagcgaagacgagtGgggggtgccccactgcctga							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:99092236_99092236TG>T	uc001vnh.3	+	22	2787	c.2548_2548TG>T	c.(2548-2550)tggfs	p.W850fs	FARP1_uc001vnj.3_Frame_Shift_Del_p.W819fs	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	819	PH 1.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CGAAGACGAGTGGGGGGTGCC	0.617													-	99092237	G	-	99092237	7	5	1	1	0	1	0	1	0	0	0	0	5676	1357	47	0	2761	0	FARP1	13	99092237	Frame_Shift_Del	DEL	G	TCGA-B7-5816-01A-21D-1600-08	44532	99092237	16077641	1005	1005											
NALCN	259232	broad.mit.edu	37	chr13	101733934	101733934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcgacgtcaccaggagatCgtatcggtttcttctgcttt	10	10	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:101733934C>T	uc001vox.1	-	34	4018	c.3829G>A	c.(3829-3831)GAT>AAT	p.D1277N		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1277	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACCAGGAGATCGTATCGGTTT	0.448													T	101733934	C	T	101733934	3	4	1	1	0	0	0	0	1	0	0	0	10148	884	31	1	1431	1	NALCN	13	101733934	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2641697	101733934	13435944	1006	1006											
MYO16	23026	broad.mit.edu	37	chr13	109496835	109496835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagcggttccaccaaaccCgagcaggtaatcatgctttc	9	12	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:109496835C>T	uc001vqt.1	+	10	1302	c.1176C>T	c.(1174-1176)CCC>CCT	p.P392P	MYO16_uc010agk.1_Silent_p.P414P|MYO16_uc001vqu.1_Silent_p.P192P	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	392					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCACCAAACCCGAGCAGGTAA	0.388													T	109496835	C	T	109496835	2	4	1	1	0	0	0	0	0	0	0	1	10064	639	23	1		1	MYO16	13	109496835	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	7762901	109496835	5673043	1007	1007											
MYO16	23026	broad.mit.edu	37	chr13	109535430	109535430	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccagctgtatttcagctcCtcagggaagctgtgttcctc	9	13	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:109535430C>A	uc001vqt.1	+	13	1509	c.1383C>A	c.(1381-1383)TCC>TCA	p.S461S	MYO16_uc010agk.1_Silent_p.S483S|MYO16_uc001vqu.1_Silent_p.S261S	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	461	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ATTTCAGCTCCTCAGGGAAGC	0.547													A	109535430	C	A	109535430	2	1	1	1	0	0	0	0	0	0	0	1	10064	668	24	5		5	MYO16	13	109535430	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	38595	109535430	5634448	1008	1008											
CUL4A	8451	broad.mit.edu	37	chr13	113909114	113909114	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatggccacggggataggTacgaaaactgcagagtgcat	13	7	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:113909114T>C	uc010tjy.1	+	18	1869	c.1858_splice	c.e18+2	p.E620_splice	CUL4A_uc010tjx.1_Splice_Site_p.E520_splice|CUL4A_uc010agu.2_Splice_Site_p.E481_splice|CUL4A_uc010tjz.1_Splice_Site_p.E299_splice	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	cullin 4A isoform 1						cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			central_nervous_system(2)|skin(1)	3	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CGGGGATAGGTACGAAAACTG	0.438													C	113909114	T	C	113909114	5	2	1	1	0	0	0	0	0	0	1	0	4057	1652	57	3	1926	3	CUL4A	13	113909114	Splice_Site	SNP	T	TCGA-B7-5816-01A-21D-1600-08	4373684	113909114	1260764	1009	1009											
OR4K15	81127	broad.mit.edu	37	chr14	20443857	20443857	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acattttcactactttatctAgcaattctgttgggcaactt	5	9	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:20443857A>G	uc010tkx.1	+	1	180	c.180A>G	c.(178-180)CTA>CTG	p.L60L		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	60	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACTTTATCTAGCAATTCTGT	0.433													G	20443857	A	G	20443857	2	3	1	1	0	0	0	0	0	0	0	1	11070	407	15	3		3	OR4K15	14	20443857	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08		20443857	86905683	1010	1010											
CHD8	57680	broad.mit.edu	37	chr14	21883898	21883898	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttaccacaaagaactgcaTggaaggcaaagtctcgccat	9	11	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:21883898T>C	uc001was.1	-	6	1142	c.1048A>G	c.(1048-1050)ATG>GTG	p.M350V	CHD8_uc001war.1_Missense_Mutation_p.M246V	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	629					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AAGAACTGCATGGAAGGCAAA	0.453													C	21883898	T	C	21883898	3	2	1	1	0	0	0	0	1	0	0	0	3331	1464	51	3	5992	3	CHD8	14	21883898	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1440041	21883898	85465642	1011	1011											
OR10G2	26534	broad.mit.edu	37	chr14	22102296	22102296	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggcgcctcccatcagcggTgcgtatcttcaggatggcat	12	14	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:22102296T>C	uc010tmc.1	-	1	703	c.703A>G	c.(703-705)ACC>GCC	p.T235A		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CCATCAGCGGTGCGTATCTTC	0.542													C	22102296	T	C	22102296	3	2	1	1	0	0	0	0	1	0	0	0	10899	1696	59	3	232	3	OR10G2	14	22102296	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	218398	22102296	85247244	1012	1012											
SLC7A7	9056	broad.mit.edu	37	chr14	23243598	23243598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgatcaggctccttccagcGcagataaagctgacccacaa	8	14	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:23243598G>A	uc001wgr.3	-	8	1348	c.1210C>T	c.(1210-1212)CGC>TGC	p.R404C	SLC7A7_uc001wgs.3_Missense_Mutation_p.R404C|SLC7A7_uc001wgt.3_Missense_Mutation_p.R404C|SLC7A7_uc001wgu.3_Missense_Mutation_p.R404C|SLC7A7_uc001wgv.3_Missense_Mutation_p.R404C	NM_003982	NP_003973	Q9UM01	YLAT1_HUMAN	solute carrier family 7 member 7	404					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			ovary(1)|breast(1)	2	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TCCTTCCAGCGCAGATAAAGC	0.502													A	23243598	G	A	23243598	3	1	1	1	0	0	0	0	1	0	0	0	14703	1087	38	1	337	1	SLC7A7	14	23243598	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1141302	23243598	84105942	1013	1013											
RBM23	55147	broad.mit.edu	37	chr14	23374315	23374315	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcacctgtgaagcctgTacaatgataggcactcccag	9	13	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:23374315T>C	uc001whg.2	-	8	913	c.714A>G	c.(712-714)GTA>GTG	p.V238V	RBM23_uc001whh.2_Silent_p.V222V|RBM23_uc001whi.2_Silent_p.V204V|RBM23_uc010tne.1_Silent_p.V68V|RBM23_uc001whj.2_5'UTR|RBM23_uc001whk.1_Silent_p.V238V	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	RNA binding motif protein 23 isoform 1	238	RRM 1.				mRNA processing	nucleus	nucleotide binding|RNA binding			skin(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GTGAAGCCTGTACAATGATAG	0.522													C	23374315	T	C	23374315	2	2	1	1	0	0	0	0	0	0	0	1	13123	1625	57	3		3	RBM23	14	23374315	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	130717	23374315	83975225	1014	1014											
PABPN1	8106	broad.mit.edu	37	chr14	23793252	23793252	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtccctatttagaggaagGcaaatcaaggtaagcctatg	11	7	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:23793252G>A	uc001wjk.2	+	5	2002	c.720G>A	c.(718-720)AGG>AGA	p.R240R	PABPN1_uc001wjh.3_Silent_p.R267R|PABPN1_uc001wjj.2_Silent_p.R240R	NM_004643	NP_004634	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	240	Necessary for homooligomerization.|RRM.				modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle	cytoplasm|nucleoplasm|ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			ovary(2)	2	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TTAGAGGAAGGCAAATCAAGG	0.408													A	23793252	G	A	23793252	2	1	1	1	0	0	0	0	0	0	0	1	11368	1194	42	2		2	PABPN1	14	23793252	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	418937	23793252	83556288	1015	1015											
MYH6	4624	broad.mit.edu	37	chr14	23853710	23853710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcccttcaccgactctgCgttgcgcttctgctcggcct	9	17	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:23853710C>T	uc001wjv.2	-	36	5573	c.5506G>A	c.(5506-5508)GCA>ACA	p.A1836T		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1836	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACCGACTCTGCGTTGCGCTTC	0.632													T	23853710	C	T	23853710	3	4	1	1	0	0	0	0	1	0	0	0	10038	768	27	1	329	1	MYH6	14	23853710	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	60458	23853710	83495830	1016	1016											
MYH7	4625	broad.mit.edu	37	chr14	23898214	23898214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcctatgaagtactggcGtggctgcttggtctccaggg	14	10	1	1	rs121913625		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:23898214G>A	uc001wjx.2	-	14	1463	c.1357C>T	c.(1357-1359)CGC>TGC	p.R453C		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	453	Myosin head-like.		R -> C (in CMH1).|R -> H (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AAGTACTGGCGTGGCTGCTTG	0.557													A	23898214	G	A	23898214	3	1	1	1	0	0	0	0	1	0	0	0	10039	1145	40	1	4558	1	MYH7	14	23898214	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	44504	23898214	83451326	1017	1017											
LTB4R2	56413	broad.mit.edu	37	chr14	24780927	24780927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgggatggagaaggacGgtccggaatgggacctttga	20	5	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:24780927G>A	uc001woq.1	+	1	2767	c.1150G>A	c.(1150-1152)GGT>AGT	p.G384S	CIDEB_uc001woo.2_5'Flank|CIDEB_uc001wop.2_5'Flank|LTB4R2_uc001wor.2_Missense_Mutation_p.G353S|LTB4R_uc001wos.2_5'UTR|LTB4R_uc010alp.2_5'Flank|LTB4R_uc001wou.2_5'Flank	NM_019839	NP_062813	Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	384	Cytoplasmic (Potential).				chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane					0				GBM - Glioblastoma multiforme(265;0.018)		GGAGAAGGACGGTCCGGAATG	0.632													A	24780927	G	A	24780927	3	1	1	1	0	0	0	0	1	0	0	0	9072	1116	39	1	1059	1	LTB4R2	14	24780927	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	882713	24780927	82568613	1018	1018											
NYNRIN	57523	broad.mit.edu	37	chr14	24884853	24884853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcttccaggttctgccgCctttctctgacctgtccacg	8	16	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:24884853C>T	uc001wpf.3	+	9	4216	c.3898C>T	c.(3898-3900)CCT>TCT	p.P1300S		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	1300					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						GGTTCTGCCGCCTTTCTCTGA	0.607													T	24884853	C	T	24884853	3	4	1	1	0	0	0	0	1	0	0	0	10796	739	26	2	3928	2	NYNRIN	14	24884853	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	103926	24884853	82464687	1019	1019											
GZMH	2999	broad.mit.edu	37	chr14	25075943	25075943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacacacgaggggcccccCggagtccccctgtgaacaga	11	16	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:25075943C>T	uc001wpr.1	-	5	652	c.607G>A	c.(607-609)GGG>AGG	p.G203R	GZMH_uc010aly.1_Missense_Mutation_p.G117R|GZMH_uc010alz.1_Silent_p.P71P	NM_033423	NP_219491	P20718	GRAH_HUMAN	granzyme H precursor	203	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(265;0.0267)		AGGGGCCCCCCGGAGTCCCCC	0.532													T	25075943	C	T	25075943	3	4	1	1	0	0	0	0	1	0	0	0	6917	652	23	1	137	1	GZMH	14	25075943	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	191090	25075943	82273597	1020	1020											
KIAA0391	9692	broad.mit.edu	37	chr14	35736064	35736064	+	Frame_Shift_Del	DEL	T	T	-													gtgcaaaagcaagccagctgTttttttgctgatgacatgta							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:35736063_35736063GT>G	uc001wsy.1	+	5	1766	c.1406_1406GT>G	c.(1405-1407)tgtfs	p.C469fs	KIAA0391_uc010tps.1_Frame_Shift_Del_p.C374fs|KIAA0391_uc001wsz.1_Frame_Shift_Del_p.C453fs|KIAA0391_uc001wta.3_Non-coding_Transcript|KIAA0391_uc001wtc.1_Frame_Shift_Del_p.C97fs	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Homo sapiens KIAA0391 (KIAA0391), mRNA.	469					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CAAGCCAGCTGTTTTTTTGCT	0.463													-	35736064	T	-	35736064	7	5	1	1	0	1	0	1	0	0	0	0	8172	1731	60	0	1425	0	KIAA0391	14	35736064	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	10660121	35736064	71613476	1021	1021											
FAM179B	23116	broad.mit.edu	37	chr14	45433605	45433605	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggaaaaaataaattaccaTgggaaaatgagcaacctgga	9	5	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:45433605T>C	uc001wvv.2	+	1	2190	c.1981T>C	c.(1981-1983)TGG>CGG	p.W661R	FAM179B_uc001wvw.2_Missense_Mutation_p.W661R|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.W661R|FAM179B_uc001wvu.2_Missense_Mutation_p.W661R	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	661							binding			skin(2)|upper_aerodigestive_tract(1)	3						TAAATTACCATGGGAAAATGA	0.423													C	45433605	T	C	45433605	3	2	1	1	0	0	0	0	1	0	0	0	5506	1464	51	3	1983	3	FAM179B	14	45433605	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	9697541	45433605	61915935	1022	1022											
TRIM9	114088	broad.mit.edu	37	chr14	51444057	51444057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtcggggactgggagcccGgtgtgcagcgtgacctgggg	20	9	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:51444057G>A	uc001wyx.3	-	10	2850	c.2085C>T	c.(2083-2085)ACC>ACT	p.T695T		NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	695	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					CTGGGAGCCCGGTGTGCAGCG	0.597													A	51444057	G	A	51444057	2	1	1	1	0	0	0	0	0	0	0	1	16546	1103	39	1		1	TRIM9	14	51444057	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	6010452	51444057	55905483	1023	1023											
FBXO34	55030	broad.mit.edu	37	chr14	55817461	55817461	+	Frame_Shift_Del	DEL	A	A	-													gaaacctggaaataccaaggAaaaaattgcattctttgcat							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:55817460_55817460GA>G	uc021rtk.1	+	0	352	c.352_352GA>G	c.(352-354)gaafs	p.E118fs	FBXO34_uc001xbv.3_5'Flank|FBXO34_uc001xbu.3_Frame_Shift_Del_p.E118fs|FBXO34_uc010aoo.3_Frame_Shift_Del_p.E118fs	NM_152231	NP_689417	Q9NWN3	FBX34_HUMAN	Homo sapiens F-box protein 34 (FBXO34), transcript variant 2, mRNA.	118								p.K117N(1)		breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AAATACCAAGGAAAAAATTGC	0.413													-	55817461	A	-	55817461	7	5	1	1	0	1	0	1	0	0	0	0	5744	246	9	0	355	0	FBXO34	14	55817461	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	4373404	55817461	51532079	1024	1024											
SLC35F4	341880	broad.mit.edu	37	chr14	58060660	58060660	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtcacccacatacctgAtctgttctgtctctcaactc	7	14	5	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:58060660A>T	uc001xdb.1	-	2	394	c.394T>A	c.(394-396)TCA>ACA	p.S132T	SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_5'UTR	NM_001080455	NP_001073924			solute carrier family 35, member F4											ovary(2)	2						CACATACCTGATCTGTTCTGT	0.448													T	58060660	A	T	58060660	3	4	1	1	0	0	0	0	1	0	0	0	14591	333	12	5	1199	5	SLC35F4	14	58060660	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	2243199	58060660	49288880	1025	1025											
KIAA0586	9786	broad.mit.edu	37	chr14	58915174	58915174	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccctaatcttggtagctgTaatccatctttatataacac	4	11	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:58915174T>C	uc001xdv.3	+	7	1197	c.924T>C	c.(922-924)TGT>TGC	p.C308C	KIAA0586_uc010trr.1_Silent_p.C349C|KIAA0586_uc001xdt.3_Silent_p.C264C|KIAA0586_uc001xdu.3_Silent_p.C293C|KIAA0586_uc010trs.1_Silent_p.C223C|KIAA0586_uc010trt.1_Silent_p.C168C|KIAA0586_uc010tru.1_Silent_p.C168C	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	308										ovary(1)	1						TTGGTAGCTGTAATCCATCTT	0.368													C	58915174	T	C	58915174	2	2	1	1	0	0	0	0	0	0	0	1	8186	1644	57	3		3	KIAA0586	14	58915174	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	854514	58915174	48434366	1026	1026											
RTN1	6252	broad.mit.edu	37	chr14	60213155	60213155	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttccccatcttttgatgTtgttgagaaggtgtggtcca	10	9	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:60213155T>C	uc001xen.1	-	2	495	c.286A>G	c.(286-288)ACA>GCA	p.T96A		NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	96					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCTTTTGATGTTGTTGAGAAG	0.468													C	60213155	T	C	60213155	3	2	1	1	0	0	0	0	1	0	0	0	13725	1725	60	3	2141	3	RTN1	14	60213155	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1297981	60213155	47136385	1027	1027											
HIF1A	3091	broad.mit.edu	37	chr14	62213706	62213706	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagtggattaccacagcTgaccagttatgattgtgaag	11	6	0	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:62213706T>C	uc001xfq.2	+	15	2788	c.2384T>C	c.(2383-2385)CTG>CCG	p.L795P	HIF1A_uc001xfr.2_3'UTR|HIF1A_uc001xfs.2_Missense_Mutation_p.L796P	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	hypoxia-inducible factor 1, alpha subunit	795	CTAD.			L->A: Inhibits interaction with EP300 and transactivation activity.	cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			kidney(3)|lung(1)	4				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		TTACCACAGCTGACCAGTTAT	0.373													C	62213706	T	C	62213706	3	2	1	1	0	0	0	0	1	0	0	0	7103	1580	55	3	2442	3	HIF1A	14	62213706	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	2000551	62213706	45135834	1028	1028											
SNAPC1	6617	broad.mit.edu	37	chr14	62242911	62242911	+	Frame_Shift_Del	DEL	T	T	-													ctcagcttgataaaggatgaTttttttgacaatattaagaa							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:62242910_62242910AT>A	uc001xft.3	+	4	736	c.632_632AT>A	c.(631-633)gatfs	p.D211fs		NM_003082	NP_003073	Q16533	SNPC1_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 1, 43kDa (SNAPC1), mRNA.	211	SNAPC4-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.D214fs*1(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		ATAAAGGATGATTTTTTTGAC	0.358													-	62242911	T	-	62242911	7	5	1	1	0	1	0	1	0	0	0	0	14834	1490	52	0	651	0	SNAPC1	14	62242911	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	29205	62242911	45106629	1029	1029											
SYNE2	23224	broad.mit.edu	37	chr14	64606785	64606785	+	Frame_Shift_Del	DEL	T	T	-													atcagaagcaacatcaacaaTttttttgtaagttgtaatag							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:64606784_64606784AT>A	uc001xgl.3	+	79	15199	c.14969_14969AT>A	c.(14968-14970)aatfs	p.N4990fs	SYNE2_uc001xgm.3_Frame_Shift_Del_p.N4990fs|SYNE2_uc010apy.3_Frame_Shift_Del_p.N1375fs|SYNE2_uc001xgn.3_5'UTR|SYNE2_uc021rui.1_5'UTR|SYNE2_uc001xgo.3_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4990					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACATCAACAATTTTTTTGTA	0.358													-	64606785	T	-	64606785	7	5	1	1	0	1	0	1	0	0	0	0	15443	1490	52	0	15284	0	SYNE2	14	64606785	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	2363874	64606785	42742755	1030	1030											
SYNE2	23224	broad.mit.edu	37	chr14	64679610	64679610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcagctgattcagaagagcGagcccctggatgctgtgctg	14	10	1	3	rs34990313		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:64679610G>A	uc001xgm.2	+	105	19173	c.18943G>A	c.(18943-18945)GAG>AAG	p.E6315K	SYNE2_uc001xgl.2_Missense_Mutation_p.E6315K|SYNE2_uc010apy.2_Missense_Mutation_p.E2700K|SYNE2_uc001xgn.2_Missense_Mutation_p.E1277K|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.E285K|SYNE2_uc001xgq.2_Missense_Mutation_p.E680K|SYNE2_uc001xgr.2_Missense_Mutation_p.E98K|SYNE2_uc010tsi.1_5'Flank|SYNE2_uc001xgs.2_5'Flank	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6315	Spectrin 8.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCAGAAGAGCGAGCCCCTGGA	0.527													A	64679610	G	A	64679610	3	1	1	1	0	0	0	0	1	0	0	0	15443	1059	37	1	19357	1	SYNE2	14	64679610	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	72825	64679610	42669930	1031	1031											
ZFYVE26	23503	broad.mit.edu	37	chr14	68249834	68249834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgctctgcagccagaggCacctccctgcggccacgaag	11	17	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:68249834C>T	uc001xka.2	-	21	4174	c.4035G>A	c.(4033-4035)GTG>GTA	p.V1345V	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.V1345V	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1345					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CAGCCAGAGGCACCTCCCTGC	0.622													T	68249834	C	T	68249834	2	4	1	1	0	0	0	0	0	0	0	1	17665	697	25	2		2	ZFYVE26	14	68249834	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3570224	68249834	39099706	1032	1032											
ACTN1	87	broad.mit.edu	37	chr14	69369233	69369233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtggtagaagctagacacGtaagtcatgatggctttctc	12	8	2	3	rs149168564	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:69369233G>A	uc001xkl.2	-	8	1033	c.723C>T	c.(721-723)TAC>TAT	p.Y241Y	ACTN1_uc010ttb.1_Silent_p.Y176Y|ACTN1_uc001xkm.2_Silent_p.Y241Y|ACTN1_uc001xkn.2_Silent_p.Y241Y|ACTN1_uc001xko.1_Silent_p.Y176Y|ACTN1_uc010ttd.1_Silent_p.Y220Y	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	241	CH 2.|Actin-binding.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		AGCTAGACACGTAAGTCATGA	0.552													A	69369233	G	A	69369233	2	1	1	1	0	0	0	0	0	0	0	1	204	1140	40	1		1	ACTN1	14	69369233	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1119399	69369233	37980307	1033	1033											
SFRS5	6430	broad.mit.edu	37	chr14	70237203	70237203	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggatctcaaagatttcatgaGacaagctggggaagtaacgt	12	6	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:70237203G>A	uc001xll.2	+	7	1837	c.386G>A	c.(385-387)AGA>AAA	p.R129K	SFRS5_uc001xlm.2_RNA|SFRS5_uc001xln.1_3'UTR|SFRS5_uc001xlo.2_Missense_Mutation_p.R129K|SFRS5_uc001xlp.2_Missense_Mutation_p.R129K|SFRS5_uc001xlq.2_Missense_Mutation_p.R126K	NM_006925	NP_008856	Q13243	SRSF5_HUMAN	splicing factor, arginine/serine-rich 5	129	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding				0				all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154)		GATTTCATGAGACAAGCTGGG	0.358													A	70237203	G	A	70237203	3	1	1	1	0	0	0	0	1	0	0	0	14180	942	33	4	404	4	SFRS5	14	70237203	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	867970	70237203	37112337	1034	1034											
PCNX	22990	broad.mit.edu	37	chr14	71570280	71570281	+	Frame_Shift_Ins	INS	-	-	C													ctacccaatctttgtctcacINSccctgacaacttcttactct							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:71570279_71570280A>AC	uc001xmo.2	+	31	6434_6435	c.5988_5989A>AC	c.(5986-5991)tcacccfs	p.S1996fs	PCNX_uc010are.1_Frame_Shift_Ins_p.S1885fs|PCNX_uc010arf.1_Frame_Shift_Ins_p.S784fs|PCNX_uc001xmp.2_Frame_Shift_Ins_p.S80fs	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1996						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TCTTTGTCTCACCCCTGACAAC	0.446													C	71570281	-	C	71570280	7	5	1	1	0	1	1	0	0	0	0	0	11591	507	18	0	6115	0	PCNX	14	71570280	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	1333077	71570280	35779260	1035	1035											
SIPA1L1	26037	broad.mit.edu	37	chr14	72202008	72202008	+	Frame_Shift_Del	DEL	T	T	-													ttccagtccagagagcctcaTtttttgctgctagtgatgaa							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:72202007_72202007AT>A	uc001xms.3	+	19	5446	c.5085_5085AT>A	c.(5083-5085)tcafs	p.S1695fs	SIPA1L1_uc001xmt.3_Frame_Shift_Del_p.S1674fs|SIPA1L1_uc001xmu.3_Frame_Shift_Del_p.S1674fs|SIPA1L1_uc001xmv.3_Frame_Shift_Del_p.S1695fs|SIPA1L1_uc010ttm.2_Frame_Shift_Del_p.S1149fs	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1695					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AGAGAGCCTCATTTTTTGCTG	0.488													-	72202008	T	-	72202008	7	5	1	1	0	1	0	1	0	0	0	0	14329	1493	52	0	5160	0	SIPA1L1	14	72202008	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	631728	72202008	35147532	1036	1036											
MLH3	27030	broad.mit.edu	37	chr14	75514620	75514623	+	Frame_Shift_Del	DEL	TCTG	TCTG	-													attctttttttttctctttcTctgtctgagcactatgtact							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:75514619_75514622CTCTG>C	uc001xrd.1	-	1	1953_1956	c.1737_1740CAGAG>G	c.(1735-1740)acagagfs	p.T579fs	MLH3_uc001xre.1_Frame_Shift_Del_p.T579fs|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	579					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	p.A577_S588delAQTEKEKKKESS(3)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTTTCTCTTTCTCTGTCTGAGCAC	0.373								Mismatch excision repair (MMR)					-	75514623	TCTG	-	75514620	7	5	1	1	0	1	0	1	0	0	0	0	9618	1551	54	0	2670	0	MLH3	14	75514620	Frame_Shift_Del	DEL	TCTG	TCGA-B7-5816-01A-21D-1600-08	3312612	75514620	31834920	1037	1037											
ESRRB	2103	broad.mit.edu	37	chr14	76928919	76928919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagctgcccggccaccaaCgagtgcgagatcaccaaacg	10	15	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:76928919C>T	uc001xsq.1	+	3	496	c.429C>T	c.(427-429)AAC>AAT	p.N143N	ESRRB_uc001xsr.2_Silent_p.N143N|ESRRB_uc001xso.2_RNA	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	143						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CGGCCACCAACGAGTGCGAGA	0.632													T	76928919	C	T	76928919	2	4	1	1	0	0	0	0	0	0	0	1	5261	535	19	1		1	ESRRB	14	76928919	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1414299	76928919	30420621	1038	1038											
ANGEL1	23357	broad.mit.edu	37	chr14	77255720	77255720	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgagagttccatctcgatAcagcctgtgatctggggcac	11	11	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:77255720A>G	uc001xsv.2	-	10	1977	c.1864T>C	c.(1864-1866)TAT>CAT	p.Y622H	uc001xsu.1_5'Flank|ANGEL1_uc010tvf.1_Intron	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	angel homolog 1	622										ovary(2)|central_nervous_system(1)|skin(1)	4			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CCATCTCGATACAGCCTGTGA	0.557													G	77255720	A	G	77255720	3	3	1	1	0	0	0	0	1	0	0	0	608	391	14	3	152	3	ANGEL1	14	77255720	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	326801	77255720	30093820	1039	1039											
ISM2	145501	broad.mit.edu	37	chr14	77950769	77950769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggtcctgggaggcgtgGcattccctggggtcagggct	18	11	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:77950769G>A	uc001xtz.2	-	3	598	c.524C>T	c.(523-525)GCC>GTC	p.A175V	ISM2_uc001xua.2_Missense_Mutation_p.A175V|ISM2_uc001xty.2_Missense_Mutation_p.A87V|ISM2_uc010tvl.1_Intron	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	isthmin 2 homolog isoform 1	175						extracellular region				skin(1)	1						GGGAGGCGTGGCATTCCCTGG	0.597													A	77950769	G	A	77950769	3	1	1	1	0	0	0	0	1	0	0	0	7861	1203	42	2	1211	2	ISM2	14	77950769	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	695049	77950769	29398771	1040	1040											
ISM2	145501	broad.mit.edu	37	chr14	77951252	77951252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagaggcctaggatctgggGaggctgagacctgagggaga	18	7	2	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:77951252G>A	uc001xtz.2	-	2	226	c.152C>T	c.(151-153)TCC>TTC	p.S51F	ISM2_uc001xua.2_Missense_Mutation_p.S51F|ISM2_uc001xty.2_5'UTR|ISM2_uc010tvl.1_Missense_Mutation_p.S51F	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	isthmin 2 homolog isoform 1	51						extracellular region				skin(1)	1						AGGATCTGGGGAGGCTGAGAC	0.607													A	77951252	G	A	77951252	3	1	1	1	0	0	0	0	1	0	0	0	7861	1174	41	4	1587	4	ISM2	14	77951252	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	483	77951252	29398288	1041	1041											
C14orf145	145508	broad.mit.edu	37	chr14	81382887	81382887	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgattcgctggatgattctGccattgatgtacacaaatcc	8	10	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:81382887G>T	uc001xux.2	-	2	176	c.5C>A	c.(4-6)GCA>GAA	p.A2E	C14orf145_uc001xuz.2_Missense_Mutation_p.A2E|C14orf145_uc001xva.1_Missense_Mutation_p.A2E|C14orf145_uc010ata.1_Missense_Mutation_p.A2E	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	2						centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		GGATGATTCTGCCATTGATGT	0.393													T	81382887	G	T	81382887	3	4	1	1	0	0	0	0	1	0	0	0	1749	1319	46	5	3371	5	C14orf145	14	81382887	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	3431635	81382887	25966653	1042	1042											
STON2	85439	broad.mit.edu	37	chr14	81737109	81737109	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggctttggaggcagaagTtgtgggcatgctgaactcga	16	7	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:81737109T>C	uc010tvu.1	-	5	2719	c.2518A>G	c.(2518-2520)ACT>GCT	p.T840A	STON2_uc001xvk.1_Missense_Mutation_p.T840A|STON2_uc010tvt.1_Missense_Mutation_p.T637A	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	840	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GAGGCAGAAGTTGTGGGCATG	0.502													C	81737109	T	C	81737109	3	2	1	1	0	0	0	0	1	0	0	0	15317	1725	60	3	201	3	STON2	14	81737109	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	354222	81737109	25612431	1043	1043											
EML5	161436	broad.mit.edu	37	chr14	89154773	89154773	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacatcattgtgtcattttTccccagtgtgcctatgtagc	7	11	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:89154773T>C	uc001xxg.2	-	19	2770	c.2584A>G	c.(2584-2586)AAA>GAA	p.K862E	EML5_uc001xxh.1_Intron	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	862	WD 14.					cytoplasm|microtubule				ovary(3)	3						GTGTCATTTTTCCCCAGTGTG	0.388													C	89154773	T	C	89154773	3	2	1	1	0	0	0	0	1	0	0	0	5100	1792	62	3	3453	3	EML5	14	89154773	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	7417664	89154773	18194767	1044	1044											
PSMC1	5700	broad.mit.edu	37	chr14	90726465	90726465	+	Frame_Shift_Del	DEL	A	A	-													tctaacaactcaaggacaagAaaaagaaatatgaacctcct							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:90726464_90726464GA>G	uc001xyf.3	+	2	111	c.63_63GA>G	c.(61-63)aagfs	p.K21fs	PSMC1_uc001xyg.3_Intron|PSMC1_uc001xyh.3_5'UTR	NM_002802	NP_002793	P62191	PRS4_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 1 (PSMC1), mRNA.	21					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		TCAAGGACAAGAAAAAGAAAT	0.373													-	90726465	A	-	90726465	7	5	1	1	0	1	0	1	0	0	0	0	12685	247	9	0	74	0	PSMC1	14	90726465	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	1571692	90726465	16623075	1045	1045											
TTC7B	145567	broad.mit.edu	37	chr14	91252559	91252559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggcggtcagatgcttgcGgacctcagtcagctggggct	17	11	3	1	rs148256811	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:91252559G>A	uc001xyp.2	-	2	357	c.235C>T	c.(235-237)CGC>TGC	p.R79C		NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	79							binding			ovary(2)	2		Melanoma(154;0.222)				AGATGCTTGCGGACCTCAGTC	0.642													A	91252559	G	A	91252559	3	1	1	1	0	0	0	0	1	0	0	0	16710	1116	39	1	2372	1	TTC7B	14	91252559	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	526094	91252559	16096981	1046	1046											
SMEK1	55671	broad.mit.edu	37	chr14	91937310	91937310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttaacaattccaatacaaGtgccaatagttgggcagtct	8	8	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:91937310G>A	uc001xzn.2	-	10	2353	c.1531C>T	c.(1531-1533)CTT>TTT	p.L511F	SMEK1_uc001xzm.2_Missense_Mutation_p.L498F|SMEK1_uc001xzo.2_Missense_Mutation_p.L498F|SMEK1_uc010atz.2_Missense_Mutation_p.L272F|SMEK1_uc001xzp.1_RNA	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1	511						microtubule organizing center|nucleus	protein binding				0		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TCCAATACAAGTGCCAATAGT	0.318													A	91937310	G	A	91937310	3	1	1	1	0	0	0	0	1	0	0	0	14793	1029	36	4	994	4	SMEK1	14	91937310	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	684751	91937310	15412230	1047	1047											
TECPR2	9895	broad.mit.edu	37	chr14	102880991	102880991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggctctgtaactcccagCtggtgttggaggagccatct	14	10	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:102880991C>T	uc001ylw.1	+	5	647	c.499C>T	c.(499-501)CTG>TTG	p.L167L	TECPR2_uc010txw.1_Silent_p.L167L|TECPR2_uc010awl.2_Silent_p.L167L|TECPR2_uc010txx.1_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	167							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						TAACTCCCAGCTGGTGTTGGA	0.507													T	102880991	C	T	102880991	2	4	1	1	0	0	0	0	0	0	0	1	15741	796	28	2		2	TECPR2	14	102880991	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	10943681	102880991	4468549	1048	1048											
TECPR2	9895	broad.mit.edu	37	chr14	102912238	102912238	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacctgtggttcagaactgGcattatttccaagaagcccc	9	11	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:102912238G>T	uc001ylw.1	+	13	3177	c.3029G>T	c.(3028-3030)GGC>GTC	p.G1010V	TECPR2_uc010awl.2_Missense_Mutation_p.G1010V|TECPR2_uc010txx.1_Missense_Mutation_p.G173V	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1010	TECPR 2.						protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						TTCAGAACTGGCATTATTTCC	0.552													T	102912238	G	T	102912238	3	4	1	1	0	0	0	0	1	0	0	0	15741	1203	42	5	3075	5	TECPR2	14	102912238	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	31247	102912238	4437302	1049	1049											
INF2	64423	broad.mit.edu	37	chr14	105174896	105174896	+	Frame_Shift_Del	DEL	C	C	-													caaggagcccaccatggtggCcccccgggccaggaaggagc							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:105174895_105174895GC>G	uc001ypb.2	+	8	2001	c.1858_1858GC>G	c.(1858-1860)gccfs	p.A620fs	INF2_uc001ypc.2_Frame_Shift_Del_p.A620fs|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	620	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CACCATGGTGGCCCCCCGGGC	0.701											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	105174896	C	-	105174896	7	5	1	1	0	1	0	1	0	0	0	0	7734	739	26	0	1893	0	INF2	14	105174896	Frame_Shift_Del	DEL	C	TCGA-B7-5816-01A-21D-1600-08	2262658	105174896	2174644	1050	1050											
PACS2	23241	broad.mit.edu	37	chr14	105834841	105834841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggaagccgaagaagcagCggagatcgattgtaagaacg	16	6	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:105834841C>T	uc001yqt.2	+	7	881	c.706C>T	c.(706-708)CGG>TGG	p.R236W	PACS2_uc001yqs.2_Missense_Mutation_p.R169W|PACS2_uc001yqv.2_Missense_Mutation_p.R236W|PACS2_uc001yqu.2_Missense_Mutation_p.R236W	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	236					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GAAGAAGCAGCGGAGATCGAT	0.597													T	105834841	C	T	105834841	3	4	1	1	0	0	0	0	1	0	0	0	11373	759	27	1	732	1	PACS2	14	105834841	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	659945	105834841	1514699	1051	1051											
MTA1	9112	broad.mit.edu	37	chr14	105935825	105935825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggcaaaccacggacaggCcaggcacatggtaagaggaa	13	10	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:105935825C>T	uc001yqx.2	+	19	2022	c.1835C>T	c.(1834-1836)GCC>GTC	p.A612V	MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Missense_Mutation_p.A377V	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	612					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CACGGACAGGCCAGGCACATG	0.627													T	105935825	C	T	105935825	3	4	1	1	0	0	0	0	1	0	0	0	9908	739	26	2	1909	2	MTA1	14	105935825	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	100984	105935825	1413715	1052	1052											
CYFIP1	23191	broad.mit.edu	37	chr15	22969309	22969309	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcaccctgcacgtcttctgGgagctcaactatgacttcct	7	14	4	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:22969309G>T	uc001yus.2	+	22	2639	c.2535G>T	c.(2533-2535)TGG>TGT	p.W845C	CYFIP1_uc001yut.2_Missense_Mutation_p.W845C|CYFIP1_uc010aya.1_Missense_Mutation_p.W873C|CYFIP1_uc001yuu.2_Missense_Mutation_p.W414C|CYFIP1_uc001yuv.2_Missense_Mutation_p.W39C	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	845				FW->AA: Constitutive induction of the formation of actin filaments; when associated with A-841.	axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ACGTCTTCTGGGAGCTCAACT	0.637													T	22969309	G	T	22969309	3	4	1	1	0	0	0	0	1	0	0	0	4137	1241	43	5	2998	5	CYFIP1	15	22969309	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08		22969309	79562083	1053	1053											
NDN	4692	broad.mit.edu	37	chr15	23931620	23931620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctccacgtatgggacgcGctggtacttcaggtaattca	12	11	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:23931620G>A	uc001ywk.2	-	1	831	c.745C>T	c.(745-747)CGC>TGC	p.R249C		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	249	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TATGGGACGCGCTGGTACTTC	0.587									Prader-Willi_syndrome				A	23931620	G	A	23931620	3	1	1	1	0	0	0	0	1	0	0	0	10247	1087	38	1	224	1	NDN	15	23931620	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	962311	23931620	78599772	1054	1054											
ATP10A	57194	broad.mit.edu	37	chr15	25925050	25925050	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgcatctcctgggggacTtcctggtcaactgacgtgcc	11	14	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:25925050T>G	uc010ayu.2	-	21	4044	c.3938A>C	c.(3937-3939)AAG>ACG	p.K1313T		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1313	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CCTGGGGGACTTCCTGGTCAA	0.517													G	25925050	T	G	25925050	3	3	1	1	0	0	0	0	1	0	0	0	1116	1609	56	5	565	5	ATP10A	15	25925050	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1993430	25925050	76606342	1055	1055											
TJP1	7082	broad.mit.edu	37	chr15	30003035	30003035	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctacttccgaacttcctacCttcaccatgtgctcccttag	4	16	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:30003035C>A	uc001zcr.2	-	24	4847	c.4372G>T	c.(4372-4374)GGT>TGT	p.G1458C	TJP1_uc010azl.2_Missense_Mutation_p.G1446C|TJP1_uc001zcq.2_Missense_Mutation_p.G1382C|TJP1_uc001zcs.2_Missense_Mutation_p.G1378C	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1458					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AACTTCCTACCTTCACCATGT	0.453													A	30003035	C	A	30003035	3	1	1	1	0	0	0	0	1	0	0	0	15926	695	24	5	894	5	TJP1	15	30003035	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	4077985	30003035	72528357	1056	1056											
MTMR10	54893	broad.mit.edu	37	chr15	31239370	31239370	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgaggggagttgaacAggaaggtgccaaacagtgag	18	5	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:31239370A>G	uc001zfh.1	-	14	1609	c.1511T>C	c.(1510-1512)CTG>CCG	p.L504P	MTMR10_uc010ubk.1_5'UTR|MTMR10_uc001zfg.1_Missense_Mutation_p.L85P|MTMR10_uc010azx.1_Missense_Mutation_p.L256P|MTMR10_uc001zfi.1_Missense_Mutation_p.L256P|MTMR10_uc001zfj.2_Missense_Mutation_p.L422P|MTMR10_uc001zfk.2_Missense_Mutation_p.L256P	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	504	Myotubularin phosphatase.						phosphatase activity			ovary(1)	1		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		GGAGTTGAACAGGAAGGTGCC	0.488													G	31239370	A	G	31239370	3	3	1	1	0	0	0	0	1	0	0	0	9939	188	7	3	834	3	MTMR10	15	31239370	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1236335	31239370	71292022	1057	1057											
NOP10	55505	broad.mit.edu	37	chr15	34634282	34634282	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcaggatgggctgagcAggtctgttgtcccatcgggt	16	10	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:34634282A>G	uc001zie.1	-	2	170	c.82T>C	c.(82-84)TGC>CGC	p.C28R	C15orf55_uc010ucc.1_5'Flank|C15orf55_uc010ucd.1_5'Flank	NM_018648	NP_061118	Q9NPE3	NOP10_HUMAN	nucleolar protein family A, member 3	28					pseudouridine synthesis|rRNA processing	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding				0						TGGGCTGAGCAGGTCTGTTGT	0.532													G	34634282	A	G	34634282	3	3	1	1	0	0	0	0	1	0	0	0	10535	188	7	3	116	3	NOP10	15	34634282	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	3394912	34634282	67897110	1058	1058											
AQR	9716	broad.mit.edu	37	chr15	35224614	35224614	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atccaggatggtattaaaccAgcgccttgtgggtagcaggg	14	8	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:35224614A>C	uc001ziv.2	-	11	986	c.805T>G	c.(805-807)TGG>GGG	p.W269G		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	269						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GTATTAAACCAGCGCCTTGTG	0.428													C	35224614	A	C	35224614	3	2	1	1	0	0	0	0	1	0	0	0	835	188	7	5	3752	5	AQR	15	35224614	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	590332	35224614	67306778	1059	1059											
FSIP1	161835	broad.mit.edu	37	chr15	40056054	40056054	+	Frame_Shift_Del	DEL	A	A	-													cagaaacagcagtcaaagatAaaaatttttttgtattttcc							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:40056053_40056053TA>T	uc001zki.3	-	4	746	c.528_528TA>A	c.(526-528)ttafs	p.L176fs		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	176										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		CAGTCAAAGATAAAAATTTTT	0.299													-	40056054	A	-	40056054	7	5	1	1	0	1	0	1	0	0	0	0	6074	372	13	0	1250	0	FSIP1	15	40056054	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	4831440	40056054	62475338	1060	1060											
EIF2AK4	440275	broad.mit.edu	37	chr15	40309416	40309416	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggctgtacctgaaatcctCgcagctggaggcagatatga	13	9	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:40309416C>T	uc001zkm.1	+	29	4088	c.4038C>T	c.(4036-4038)CTC>CTT	p.L1346L	EIF2AK4_uc010bbj.1_Silent_p.L1047L|EIF2AK4_uc001zkn.1_Silent_p.L446L|EIF2AK4_uc001zko.1_Silent_p.L227L|EIF2AK4_uc010bbk.1_RNA	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	1346	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CTGAAATCCTCGCAGCTGGAG	0.413													T	40309416	C	T	40309416	2	4	1	1	0	0	0	0	0	0	0	1	4999	871	31	1		1	EIF2AK4	15	40309416	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	253362	40309416	62221976	1061	1061											
C15orf23	90417	broad.mit.edu	37	chr15	40685797	40685799	+	In_Frame_Del	DEL	AAG	AAG	-													ggagcagctattagaaatgtAagaagaagcaagtggccaga					rs139286584	by1000genomes	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:40685796_40685798TAAG>T	uc001zll.3	+	8	1064_1066	c.949_951TAAG>T	c.(949-951)taa>T	p.*317del	C15orf23_uc001zlo.3_3'UTR|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_3'UTR	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	0						nucleus	protein binding			central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		ATTAGAAATGTAAGAAGaagcaa	0.424													-	40685799	AAG	-	40685797	7	5	1	1	0	1	0	1	0	0	0	0	1785	369	13	0	1027	0	C15orf23	15	40685797	In_Frame_Del	DEL	AAG	TCGA-B7-5816-01A-21D-1600-08	376381	40685797	61845595	1062	1062											
BAHD1	22893	broad.mit.edu	37	chr15	40751732	40751732	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagctgtcgccgctgccgAtgcctggcaaccccgccgac	11	19	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:40751732A>C	uc001zlu.2	+	2	1140	c.1069A>C	c.(1069-1071)ATG>CTG	p.M357L	BAHD1_uc001zlt.2_Missense_Mutation_p.M357L|BAHD1_uc010bbp.1_Missense_Mutation_p.M357L|BAHD1_uc001zlv.2_Missense_Mutation_p.M357L	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	357	Pro-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GCCGCTGCCGATGCCTGGCAA	0.637													C	40751732	A	C	40751732	3	2	1	1	0	0	0	0	1	0	0	0	1297	333	12	5	1071	5	BAHD1	15	40751732	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	65935	40751732	61779660	1063	1063											
INO80	54617	broad.mit.edu	37	chr15	41346200	41346200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcaaaatcatgtgtaagCgagaaagttgatctgaaatg	10	5	3	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:41346200C>T	uc001zni.2	-	19	2414	c.2201G>A	c.(2200-2202)CGC>CAC	p.R734H	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	734	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						CATGTGTAAGCGAGAAAGTTG	0.368													T	41346200	C	T	41346200	3	4	1	1	0	0	0	0	1	0	0	0	7746	768	27	1	2541	1	INO80	15	41346200	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	594468	41346200	61185192	1064	1064											
MGA	23269	broad.mit.edu	37	chr15	42032304	42032304	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaccacgtaccctgttgccTtcaacatccaattccaaaat	3	14	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:42032304T>G	uc010ucy.1	+	14	4669	c.4488T>G	c.(4486-4488)CCT>CCG	p.P1496P	MGA_uc010ucz.1_Silent_p.P1496P|MGA_uc010uda.1_Silent_p.P112P	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	1496						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CCCTGTTGCCTTCAACATCCA	0.522													G	42032304	T	G	42032304	2	3	1	1	0	0	0	0	0	0	0	1	9540	1596	56	5		5	MGA	15	42032304	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	686104	42032304	60499088	1065	1065											
SPTBN5	51332	broad.mit.edu	37	chr15	42155999	42155999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtaccggagcaagttgCcatggaaactcgcccacctg	12	13	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:42155999C>T	uc001zos.2	-	41	7280	c.6947G>A	c.(6946-6948)GGC>GAC	p.G2316D		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2351	Spectrin 20.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GAGCAAGTTGCCATGGAAACT	0.602													T	42155999	C	T	42155999	3	4	1	1	0	0	0	0	1	0	0	0	15121	739	26	2	4084	2	SPTBN5	15	42155999	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	123695	42155999	60375393	1066	1066											
SPTBN5	51332	broad.mit.edu	37	chr15	42167136	42167136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcttggcagccagggtcCggctctcactctccagctgt	10	16	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:42167136C>T	uc001zos.2	-	23	4634	c.4301G>A	c.(4300-4302)CGG>CAG	p.R1434Q		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1469	Spectrin 11.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGCCAGGGTCCGGCTCTCACT	0.667													T	42167136	C	T	42167136	3	4	1	1	0	0	0	0	1	0	0	0	15121	652	23	1	6802	1	SPTBN5	15	42167136	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	11137	42167136	60364256	1067	1067											
CAPN3	825	broad.mit.edu	37	chr15	42652149	42652149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctattcagccatcatcagccGcaattttcctattatcggag	6	12	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:42652149G>A	uc001zpn.1	+	1	452	c.146G>A	c.(145-147)CGC>CAC	p.R49H	CAPN3_uc001zpk.1_Intron|CAPN3_uc001zpl.1_Intron|CAPN3_uc010udf.1_Intron|CAPN3_uc010udg.1_Intron|CAPN3_uc001zpo.1_Missense_Mutation_p.R49H|CAPN3_uc001zpp.1_Missense_Mutation_p.R49H	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	49					muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ATCATCAGCCGCAATTTTCCT	0.527													A	42652149	G	A	42652149	3	1	1	1	0	0	0	0	1	0	0	0	2628	1087	38	1	200	1	CAPN3	15	42652149	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	485013	42652149	59879243	1068	1068											
EPB42	2038	broad.mit.edu	37	chr15	43500967	43500967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcagggattcccaggcatCgcagcactgtgagaagaggg	17	9	0	2	rs121917734		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:43500967C>T	uc001zra.3	-	7	1139	c.839G>A	c.(838-840)CGA>CAA	p.R280Q	EPB42_uc001zqz.3_5'UTR|EPB42_uc010bde.2_Missense_Mutation_p.R125Q|EPB42_uc001zrb.3_Missense_Mutation_p.R310Q|EPB42_uc010udm.1_Missense_Mutation_p.R202Q	NM_001114134	NP_001107606	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2 isoform 2	280			R -> Q (in SPH5; Tozeur).		erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			ovary(2)	2		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TCCCAGGCATCGCAGCACTGT	0.602													T	43500967	C	T	43500967	3	4	1	1	0	0	0	0	1	0	0	0	5158	884	31	1	1264	1	EPB42	15	43500967	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	848818	43500967	59030425	1069	1069											
LCMT2	9836	broad.mit.edu	37	chr15	43620632	43620632	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattagtccagtccttactGcccagcacttaaggaagaaa	7	10	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:43620632G>A	uc001zrg.2	-	1	2260	c.2056C>T	c.(2056-2058)CAG>TAG	p.Q686*	LCMT2_uc010udn.1_Nonsense_Mutation_p.Q265*|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	686					tRNA processing		methyltransferase activity|protein binding				0		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	AGTCCTTACTGCCCAGCACTT	0.453													A	43620632	G	A	43620632	4	1	1	1	0	0	0	0	0	1	0	0	8679	1328	46	2	8	2	LCMT2	15	43620632	Nonsense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	119665	43620632	58910760	1070	1070											
ELL3	80237	broad.mit.edu	37	chr15	44068067	44068069	+	In_Frame_Del	DEL	AAT	AAT	-													atagaatccatggctgcccaAataatgaggcgctccctgag					rs146960811		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:44068066_44068068AAAT>A	uc001zsw.1	-	3	738_740	c.335_337ATTT>T	c.(334-339)atttgg>aTgg	p.112_113IW>M	ELL3_uc001zsv.1_In_Frame_Del_p.66_67IW>M|ELL3_uc001zsx.1_5'UTR|SERF2_uc001zsy.3_5'Flank|SERF2_uc001zsz.4_5'Flank	NM_025165	NP_079441	Q9HB65	ELL3_HUMAN	Homo sapiens elongation factor RNA polymerase II-like 3 (ELL3), mRNA.	112					positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		ATGGCTGCCCAAATAATGAGGCG	0.532											OREG0023092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	44068069	AAT	-	44068067	7	5	1	1	0	1	0	1	0	0	0	0	5064	10	1	0	889	0	ELL3	15	44068067	In_Frame_Del	DEL	AAT	TCGA-B7-5816-01A-21D-1600-08	447435	44068067	58463325	1071	1071											
GATM	2628	broad.mit.edu	37	chr15	45661663	45661663	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttcaaatgatctttgggAaaataatgccctccttgctt	6	8	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:45661663A>G	uc001zvc.2	-	3	674	c.345T>C	c.(343-345)TTT>TTC	p.F115F	GATM_uc001zvb.2_5'UTR|GATM_uc010uev.1_Silent_p.F168F	NM_001482	NP_001473	P50440	GATM_HUMAN	L-arginine:glycine amidinotransferase precursor	115					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding				0		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	GATCTTTGGGAAAATAATGCC	0.383													G	45661663	A	G	45661663	2	3	1	1	0	0	0	0	0	0	0	1	6263	243	9	3		3	GATM	15	45661663	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1593596	45661663	56869729	1072	1072											
SPATA5L1	79029	broad.mit.edu	37	chr15	45710841	45710841	+	Frame_Shift_Del	DEL	T	T	-													aacctcgcagcagaaacctgTtttttttctggagctgatct							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:45710840_45710840GT>G	uc001zve.3	+	6	2163	c.2054_2054GT>G	c.(2053-2055)tgtfs	p.C685fs	SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	685						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GCAGAAACCTGTTTTTTTTCT	0.363													-	45710841	T	-	45710841	7	5	1	1	0	1	0	1	0	0	0	0	15011	1731	60	0	2081	0	SPATA5L1	15	45710841	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	49178	45710841	56820551	1073	1073											
CYP19A1	1588	broad.mit.edu	37	chr15	51503021	51503021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctagtgttccagacacCtgtctgagtttcttggggta	10	9	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:51503021C>T	uc001zyz.3	-	11	1747	c.1496G>A	c.(1495-1497)AGG>AAG	p.R499K	CYP19A1_uc001zza.3_Missense_Mutation_p.R499K	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	499					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TTCCAGACACCTGTCTGAGTT	0.448													T	51503021	C	T	51503021	3	4	1	1	0	0	0	0	1	0	0	0	4148	681	24	4	19	4	CYP19A1	15	51503021	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	5792180	51503021	51028371	1074	1074											
DMXL2	23312	broad.mit.edu	37	chr15	51773499	51773499	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagagcttttgaatgtgaaGgtacatcatccatcctgtga	9	8	2	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:51773499G>T	uc002abf.2	-	24	6029	c.5804C>A	c.(5803-5805)CCT>CAT	p.P1935H	DMXL2_uc002abd.2_Missense_Mutation_p.P5H|DMXL2_uc010ufy.1_Missense_Mutation_p.P1935H|DMXL2_uc010bfa.2_Missense_Mutation_p.P1299H	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1935						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		TGAATGTGAAGGTACATCATC	0.393													T	51773499	G	T	51773499	3	4	1	1	0	0	0	0	1	0	0	0	4595	1000	35	5	3389	5	DMXL2	15	51773499	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	270478	51773499	50757893	1075	1075											
MYO5C	55930	broad.mit.edu	37	chr15	52515817	52515817	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttctctgaataacttcTgcaggtggttgatttcttga	8	7	4	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:52515817T>C	uc010bff.2	-	29	3688	c.3551A>G	c.(3550-3552)CAG>CGG	p.Q1184R	MYO5C_uc010uga.1_RNA	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	1184	Potential.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		GAATAACTTCTGCAGGTGGTT	0.438													C	52515817	T	C	52515817	3	2	1	1	0	0	0	0	1	0	0	0	10080	1580	55	3	1729	3	MYO5C	15	52515817	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	742318	52515817	50015575	1076	1076											
MYO5C	55930	broad.mit.edu	37	chr15	52548869	52548869	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgcagtttttcattagcGtaattgatgcaaaattgttc	8	5	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:52548869G>A	uc010bff.2	-	11	1499	c.1362C>T	c.(1360-1362)TAC>TAT	p.Y454Y	MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	454	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		TTTCATTAGCGTAATTGATGC	0.353											OREG0023130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	52548869	G	A	52548869	2	1	1	1	0	0	0	0	0	0	0	1	10080	1140	40	1		1	MYO5C	15	52548869	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	33052	52548869	49982523	1077	1077											
UNC13C	440279	broad.mit.edu	37	chr15	54305975	54305975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgaaattgagcagttgcGcacagggtttgtccagtctc	12	8	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:54305975G>A	uc002ack.2	+	1	875	c.875G>A	c.(874-876)CGC>CAC	p.R292H		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	292					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAGCAGTTGCGCACAGGGTTT	0.453													A	54305975	G	A	54305975	3	1	1	1	0	0	0	0	1	0	0	0	16983	1087	38	1	877	1	UNC13C	15	54305975	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1757106	54305975	48225417	1078	1078											
PIGB	9488	broad.mit.edu	37	chr15	55647053	55647053	+	Frame_Shift_Del	DEL	A	A	-													tgcccgccagacctgactggAaaaagtcattatcttgatga					rs35751662		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:55647052_55647052GA>G	uc002act.3	+	10	1710	c.1394_1394GA>G	c.(1393-1395)ggafs	p.G465fs	PIGB_uc010ugg.2_Frame_Shift_Del_p.G270fs	NM_004855	NP_004846	Q92521	PIGB_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA.	465					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		GACCTGACTGGAAAAAGTCAT	0.383													-	55647053	A	-	55647053	7	5	1	1	0	1	0	1	0	0	0	0	11885	233	9	0	1437	0	PIGB	15	55647053	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	1341078	55647053	46884339	1079	1079											
GCOM1	145781	broad.mit.edu	37	chr15	57929928	57929928	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacttcaactcctagaacaTgaaacagaaatgtctgggga	8	9	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:57929928T>C	uc002aei.2	+	9	1088	c.969T>C	c.(967-969)CAT>CAC	p.H323H	GCOM1_uc002aej.2_Silent_p.H323H|GCOM1_uc002aek.2_RNA|GCOM1_uc002ael.2_RNA|GCOM1_uc002aem.2_Silent_p.H323H|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_RNA|GCOM1_uc002aeo.2_Silent_p.H323H|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_RNA	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	GRINL1A upstream protein isoform 7	323	Potential.				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				ovary(1)	1						TCCTAGAACATGAAACAGAAA	0.378													C	57929928	T	C	57929928	2	2	1	1	0	0	0	0	0	0	0	1	6304	1461	51	3		3	GCOM1	15	57929928	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	2282875	57929928	44601464	1080	1080											
TLN2	83660	broad.mit.edu	37	chr15	63084970	63084970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgatcgaatgcgcccGtgccgtcacggaaaaggtaa	14	10	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:63084970G>A	uc002alb.3	+	43	5867	c.5867G>A	c.(5866-5868)CGT>CAT	p.R1956H	TLN2_uc002alc.3_Missense_Mutation_p.R349H	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1956					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GAATGCGCCCGTGCCGTCACG	0.577													A	63084970	G	A	63084970	3	1	1	1	0	0	0	0	1	0	0	0	15945	1145	40	1	6037	1	TLN2	15	63084970	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	5155042	63084970	39446422	1081	1081											
HERC1	8925	broad.mit.edu	37	chr15	63908706	63908706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtctgcacgtagagcagatCcacctcctccaggtcctcta	8	15	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:63908706C>T	uc002amp.2	-	75	14012	c.13864G>A	c.(13864-13866)GAT>AAT	p.D4622N		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	4622	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TAGAGCAGATCCACCTCCTCC	0.532													T	63908706	C	T	63908706	3	4	1	1	0	0	0	0	1	0	0	0	7057	855	30	4	737	4	HERC1	15	63908706	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	823736	63908706	38622686	1082	1082											
PIF1	80119	broad.mit.edu	37	chr15	65108840	65108840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgggggtcacagcgaaccGccatggggtcaaagtccagc	14	13	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:65108840G>A	uc002ant.2	-	12	1865	c.1799C>T	c.(1798-1800)GCG>GTG	p.A600V	PIF1_uc002anr.2_Missense_Mutation_p.A148V|PIF1_uc002ans.2_Missense_Mutation_p.A291V|PIF1_uc010uiq.1_Missense_Mutation_p.A600V	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	DNA helicase homolog PIF1	600	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding				0						ACAGCGAACCGCCATGGGGTC	0.642													A	65108840	G	A	65108840	3	1	1	1	0	0	0	0	1	0	0	0	11883	1087	38	1	134	1	PIF1	15	65108840	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1200134	65108840	37422552	1083	1083											
TLE3	7090	broad.mit.edu	37	chr15	70350533	70350533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggaggtttacccggcatcGacctgagccctggggtcgtg	15	13	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:70350533G>A	uc002asm.2	-	12	2135	c.1016C>T	c.(1015-1017)TCG>TTG	p.S339L	TLE3_uc002ask.2_Missense_Mutation_p.S283L|TLE3_uc002asl.2_Missense_Mutation_p.S344L|TLE3_uc010ukd.1_Missense_Mutation_p.S332L|TLE3_uc010bik.1_Intron|TLE3_uc010bil.1_Missense_Mutation_p.S339L|TLE3_uc002asn.2_Missense_Mutation_p.S339L|TLE3_uc002asp.2_Missense_Mutation_p.S339L|TLE3_uc002aso.2_Missense_Mutation_p.S339L	NM_005078	NP_005069	Q04726	TLE3_HUMAN	transducin-like enhancer protein 3 isoform a	339	Pro/Ser-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding			lung(2)	2						ACCCGGCATCGACCTGAGCCC	0.607													A	70350533	G	A	70350533	3	1	1	1	0	0	0	0	1	0	0	0	15937	1059	37	1	1338	1	TLE3	15	70350533	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	5241693	70350533	32180859	1084	1084											
HEXA	3073	broad.mit.edu	37	chr15	72647903	72647903	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccccaatttgttacctcGgagagctccccagacagtct	8	15	1	2	rs121907962		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:72647903G>A	uc002aun.3	-	3	616	c.409C>T	c.(409-411)CGA>TGA	p.R137*	CELF6_uc002auk.3_RNA|HEXA_uc010ukn.1_Nonsense_Mutation_p.R148*|HEXA_uc002auo.3_Silent_p.S15S|HEXA_uc010bix.2_Nonsense_Mutation_p.R137*|HEXA_uc010biy.2_Silent_p.S15S|HEXA_uc010uko.1_Silent_p.S15S|HEXA_uc010biz.1_RNA	NM_000520	NP_000511	P06865	HEXA_HUMAN	hexosaminidase A preproprotein	137					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			ovary(3)|upper_aerodigestive_tract(1)	4						TTGTTACCTCGGAGAGCTCCC	0.363													A	72647903	G	A	72647903	4	1	1	1	0	0	0	0	0	1	0	0	7073	1124	39	1	1228	1	HEXA	15	72647903	Nonsense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2297370	72647903	29883489	1085	1085											
NEO1	4756	broad.mit.edu	37	chr15	73541966	73541967	+	Frame_Shift_Ins	INS	-	-	A													ttacaccattaatgggttgaINSaaaaatatacagagtatagt							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:73541965_73541966G>GA	uc002avm.4	+	10	1989_1990	c.1797_1798G>GA	c.(1795-1800)ttgaaafs	p.L599fs	NEO1_uc010ukx.2_Frame_Shift_Ins_p.L599fs|NEO1_uc010uky.2_Frame_Shift_Ins_p.L599fs|NEO1_uc002avn.4_Frame_Shift_Ins_p.L619fs|NEO1_uc010ukz.2_Frame_Shift_Ins_p.L23fs	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	599	Fibronectin type-III 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TTAATGGGTTGAAAAAATATAC	0.361													A	73541967	-	A	73541966	7	5	1	1	0	1	1	0	0	0	0	0	10336	247	9	0	1840	0	NEO1	15	73541966	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	894063	73541966	28989426	1086	1086											
ISLR2	57611	broad.mit.edu	37	chr15	74427112	74427112	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaggagccagaggacgtgCagggggagggccttgatgaa	20	7	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:74427112C>T	uc002axd.2	+	4	2786	c.2017C>T	c.(2017-2019)CAG>TAG	p.Q673*	ISLR2_uc002axe.2_Nonsense_Mutation_p.Q673*|ISLR2_uc010bjg.2_Nonsense_Mutation_p.Q673*|ISLR2_uc010bjf.2_Nonsense_Mutation_p.Q673*	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	673	Cytoplasmic (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						AGAGGACGTGCAGGGGGAGGG	0.682											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	74427112	C	T	74427112	4	4	1	1	0	0	0	0	0	1	0	0	7859	711	25	2	2019	2	ISLR2	15	74427112	Nonsense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	885146	74427112	28104280	1087	1087											
SEMA7A	8482	broad.mit.edu	37	chr15	74708310	74708310	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagactgacagtgaacttTccccaccctggtccccctgg	10	15	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:74708310T>C	uc002axv.2	-	8	858	c.818A>G	c.(817-819)GAA>GGA	p.E273G	SEMA7A_uc010ulk.1_Missense_Mutation_p.E108G|SEMA7A_uc010ull.1_Missense_Mutation_p.E259G	NM_003612	NP_003603	O75326	SEM7A_HUMAN	semaphorin 7A isoform 1 preproprotein	273	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(1)|central_nervous_system(1)	2						CAGTGAACTTTCCCCACCCTG	0.567													C	74708310	T	C	74708310	3	2	1	1	0	0	0	0	1	0	0	0	14043	1783	62	3	1210	3	SEMA7A	15	74708310	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	281198	74708310	27823082	1088	1088											
CSK	1445	broad.mit.edu	37	chr15	75091756	75091756	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacggcaaggtggagcactAccgcatcatgtaccatgcca	11	13	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:75091756A>G	uc010bkb.1	+	6	569	c.386A>G	c.(385-387)TAC>TGC	p.Y129C	CSK_uc002ays.2_Missense_Mutation_p.Y129C|CSK_uc010bkc.1_5'UTR	NM_001127190	NP_001120662	P41240	CSK_HUMAN	c-src tyrosine kinase	129	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			lung(2)|central_nervous_system(1)	3						GTGGAGCACTACCGCATCATG	0.607													G	75091756	A	G	75091756	3	3	1	1	0	0	0	0	1	0	0	0	3943	391	14	3	400	3	CSK	15	75091756	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	383446	75091756	27439636	1089	1089											
MAN2C1	4123	broad.mit.edu	37	chr15	75648662	75648662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttgacggtctccaataCgaccgcgggtgaagacacgg	13	12	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:75648662C>T	uc002baf.2	-	24	2883	c.2866G>A	c.(2866-2868)GTA>ATA	p.V956I	MIR631_hsa-mir-631|MI0003645_5'Flank|MAN2C1_uc002bag.2_Missense_Mutation_p.V933I|MAN2C1_uc002bah.2_Missense_Mutation_p.V973I|MAN2C1_uc010bkk.2_Missense_Mutation_p.V857I	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	956					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						GTCTCCAATACGACCGCGGGT	0.662													T	75648662	C	T	75648662	3	4	1	1	0	0	0	0	1	0	0	0	9218	536	19	1	268	1	MAN2C1	15	75648662	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	556906	75648662	26882730	1090	1090											
SGK269	79834	broad.mit.edu	37	chr15	77425370	77425370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactgcatagttattaagtgGatcttttgcatatgaagcag	10	5	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:77425370G>A	uc002bcm.2	-	5	4362	c.4054C>T	c.(4054-4056)CCA>TCA	p.P1352S		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	1352	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		TTATTAAGTGGATCTTTTGCA	0.388													A	77425370	G	A	77425370	3	1	1	1	0	0	0	0	1	0	0	0	14211	1174	41	4	1194	4	SGK269	15	77425370	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1776708	77425370	25106022	1091	1091											
KIAA1199	57214	broad.mit.edu	37	chr15	81234237	81234237	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaacgagagagagaagtttgCtttctgctccatgaaaggct	12	7	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:81234237C>A	uc002bfw.1	+	25	3715	c.3455C>A	c.(3454-3456)GCT>GAT	p.A1152D	KIAA1199_uc010unn.1_Missense_Mutation_p.A1152D	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	1152										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						GAGAAGTTTGCTTTCTGCTCC	0.493													A	81234237	C	A	81234237	3	1	1	1	0	0	0	0	1	0	0	0	8213	797	28	5	3549	5	KIAA1199	15	81234237	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3808867	81234237	21297155	1092	1092											
CPEB1	64506	broad.mit.edu	37	chr15	83218321	83218321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcattccatgcagagcacCgacaaacaccgtcctgctgg	9	14	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:83218321C>T	uc002bit.2	-	9	1620	c.1483G>A	c.(1483-1485)GGT>AGT	p.G495S	CPEB1_uc002biq.2_Missense_Mutation_p.G355S|CPEB1_uc002bir.2_Missense_Mutation_p.G360S|CPEB1_uc002bis.2_Missense_Mutation_p.G355S|CPEB1_uc010uod.1_Missense_Mutation_p.G204S|CPEB1_uc010uoe.1_Missense_Mutation_p.G433S|CPEB1_uc002biu.2_Missense_Mutation_p.G457S|CPEB1_uc010uof.1_Missense_Mutation_p.G355S|CPEB1_uc002biv.2_Missense_Mutation_p.G430S|CPEB1_uc002bip.2_Missense_Mutation_p.G204S	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	435	RRM 2.|Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGCAGAGCACCGACAAACACC	0.542													T	83218321	C	T	83218321	3	4	1	1	0	0	0	0	1	0	0	0	3800	652	23	1	413	1	CPEB1	15	83218321	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1984084	83218321	19313071	1093	1093											
TM6SF1	53346	broad.mit.edu	37	chr15	83805312	83805313	+	Frame_Shift_Ins	INS	-	-	T													cctgaagaagcaaaaatcctINSttttttagcattaaacatag							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:83805311_83805312C>CT	uc002bjp.3	+	9	1109_1110	c.1000_1001C>CT	c.(1000-1002)cttfs	p.L334fs	TM6SF1_uc010bmq.3_Frame_Shift_Ins_p.L303fs|TM6SF1_uc002bjq.3_3'UTR|TM6SF1_uc010bmr.3_Non-coding_Transcript|TM6SF1_uc002bjr.3_Frame_Shift_Ins_p.L186fs	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	Homo sapiens transmembrane 6 superfamily member 1 (TM6SF1), transcript variant 1, mRNA.	334						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AGCAAAAATCCTTTTTTTAGCA	0.366													T	83805313	-	T	83805312	7	5	1	1	0	1	1	0	0	0	0	0	15969	1609	56	0	1039	0	TM6SF1	15	83805312	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	586991	83805312	18726080	1094	1094											
KLHL25	64410	broad.mit.edu	37	chr15	86311755	86311755	+	Frame_Shift_Del	DEL	G	G	-													ttgctgacgccatcccgcaaGggggccaccatcatccactt							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:86311754_86311754AG>A	uc002bly.3	-	1	1491	c.1288_1288CT>T	c.(1288-1290)ttgfs	p.L430fs	KLHL25_uc021stw.1_Frame_Shift_Del_p.L430fs	NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	Homo sapiens kelch-like 25 (Drosophila) (KLHL25), mRNA.	430						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CCATCCCGCAAGGGGGCCACC	0.592													-	86311755	G	-	86311755	7	5	1	1	0	1	0	1	0	0	0	0	8380	987	35	0	486	0	KLHL25	15	86311755	Frame_Shift_Del	DEL	G	TCGA-B7-5816-01A-21D-1600-08	2506443	86311755	16219637	1095	1095											
ACAN	176	broad.mit.edu	37	chr15	89398644	89398644	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actgccctctggagctgagaTcctagagggctctgcctctg	12	13	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:89398644T>A	uc010upo.1	+	12	3202	c.2828T>A	c.(2827-2829)ATC>AAC	p.I943N	ACAN_uc010upp.1_Missense_Mutation_p.I943N|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	943					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGAGCTGAGATCCTAGAGGGC	0.562													A	89398644	T	A	89398644	3	1	1	1	0	0	0	0	1	0	0	0	117	1435	50	5	2870	5	ACAN	15	89398644	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	3086889	89398644	13132748	1096	1096											
BLM	641	broad.mit.edu	37	chr15	91354482	91354482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccagcagcagaggccccGgaagaagtgccgctgaggag	16	11	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:91354482G>A	uc002bpr.2	+	21	4019	c.3922G>A	c.(3922-3924)GGA>AGA	p.G1308R	BLM_uc010uqh.1_Missense_Mutation_p.G1308R|BLM_uc010uqi.1_Missense_Mutation_p.G933R|BLM_uc010bnx.2_Missense_Mutation_p.G1177R|BLM_uc002bpt.2_Missense_Mutation_p.G283R	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	1308					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CAGAGGCCCCGGAAGAAGTGC	0.502			Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				A	91354482	G	A	91354482	3	1	1	1	0	0	0	0	1	0	0	0	1445	1117	39	1	4000	1	BLM	15	91354482	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1955838	91354482	11176910	1097	1097											
SV2B	9899	broad.mit.edu	37	chr15	91769808	91769808	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggatgagtgtggccatggCcgcttccagtggatcctctt	13	10	1	1	rs34439404		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:91769808C>T	uc002bqv.2	+	1	706	c.315C>T	c.(313-315)GGC>GGT	p.G105G	SV2B_uc002bqt.2_Silent_p.G105G|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	105	Cytoplasmic (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GTGGCCATGGCCGCTTCCAGT	0.582													T	91769808	C	T	91769808	2	4	1	1	0	0	0	0	0	0	0	1	15415	726	26	2		2	SV2B	15	91769808	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	415326	91769808	10761584	1098	1098											
LRRK1	79705	broad.mit.edu	37	chr15	101528930	101528930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagctcctggtcctgacGcacggggctgacccggagag	16	12	0	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:101528930G>A	uc002bwr.2	+	5	844	c.525G>A	c.(523-525)ACG>ACA	p.T175T	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bwq.1_Silent_p.T175T	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	175	ANK 3.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGGTCCTGACGCACGGGGCTG	0.632													A	101528930	G	A	101528930	2	1	1	1	0	0	0	0	0	0	0	1	9032	1074	38	1		1	LRRK1	15	101528930	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	9759122	101528930	1002462	1099	1099											
SNRPA1	6627	broad.mit.edu	37	chr15	101833229	101833229	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctttcccctacagacacgtaCcatattctgttgttgttcac	5	13	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:101833229C>G	uc002bww.2	-	2	307	c.230_splice	c.e2+1	p.C77_splice	SNRPA1_uc002bwx.2_Intron|SNRPA1_uc010bpc.2_Intron	NM_003090	NP_003081	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'							catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			kidney(1)	1	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGACACGTACCATATTCTGT	0.373													G	101833229	C	G	101833229	5	3	1	1	0	0	0	0	0	0	1	0	14860	521	18	5	568	5	SNRPA1	15	101833229	Splice_Site	SNP	C	TCGA-B7-5816-01A-21D-1600-08	304299	101833229	698163	1100	1100											
WDR24	84219	broad.mit.edu	37	chr16	739557	739557	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacactgatggcattggcGggagcatccaggtggcagtg	15	10	0	1	rs143404878	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:739557G>A	uc002ciz.1	-	1	844	c.84C>T	c.(82-84)CCC>CCT	p.P28P		NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	90										ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)				TGGCATTGGCGGGAGCATCCA	0.607													A	739557	G	A	739557	2	1	1	1	0	0	0	0	0	0	0	1	17278	1103	39	1		1	WDR24	16	739557	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08		739557	89615196	1101	1101											
METRN	79006	broad.mit.edu	37	chr16	766974	766974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctgagctgctcctggccGcatgcaccagcgacttcggt	12	15	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:766974G>A	uc002cjd.2	+	3	664	c.547G>A	c.(547-549)GCA>ACA	p.A183T	uc010bra.1_5'Flank	NM_024042	NP_076947	Q9UJH8	METRN_HUMAN	meteorin, glial cell differentiation regulator	183											0		Hepatocellular(780;0.00335)				GCTCCTGGCCGCATGCACCAG	0.682													A	766974	G	A	766974	3	1	1	1	0	0	0	0	1	0	0	0	9488	1087	38	1	557	1	METRN	16	766974	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	27417	766974	89587779	1102	1102											
UNKL	64718	broad.mit.edu	37	chr16	1416248	1416248	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccccgctgaggtcaccacTgcaggggctggcccttgcag	14	15	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:1416248T>C	uc010brn.1	-	9	1184	c.1166A>G	c.(1165-1167)CAG>CGG	p.Q389R	UNKL_uc002cln.2_Missense_Mutation_p.Q231R|UNKL_uc002clo.2_Missense_Mutation_p.Q228R|UNKL_uc002clp.2_Missense_Mutation_p.Q181R			Q9H9P5	UNKL_HUMAN	SubName: Full=Putative ubiquitin-protein ligase;          EC=6.3.2.19; Flags: Fragment;	679						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding				0		Hepatocellular(780;0.0893)				AGGTCACCACTGCAGGGGCTG	0.682													C	1416248	T	C	1416248	3	2	1	1	0	0	0	0	1	0	0	0	16998	1580	55	3	10	3	UNKL	16	1416248	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	649274	1416248	88938505	1103	1103											
TBL3	10607	broad.mit.edu	37	chr16	2026090	2026090	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggatgtgttccggaaggGgtggctctttgccagctgtg	16	9	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:2026090G>T	uc002cnu.1	+	12	1265	c.1163G>T	c.(1162-1164)GGG>GTG	p.G388V	TBL3_uc002cnv.1_Missense_Mutation_p.G274V|TBL3_uc010bsb.1_Missense_Mutation_p.G177V|TBL3_uc010bsc.1_Missense_Mutation_p.G274V|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	388	WD 8.				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						TTCCGGAAGGGGTGGCTCTTT	0.627													T	2026090	G	T	2026090	3	4	1	1	0	0	0	0	1	0	0	0	15640	1232	43	5	1209	5	TBL3	16	2026090	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	609842	2026090	88328663	1104	1104											
ZNF200	7752	broad.mit.edu	37	chr16	3283691	3283691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccagcttggagtctggcGgaactctcagtataaaggac	13	10	2	0	rs61731430		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:3283691G>A	uc002cuj.2	-	2	697	c.65C>T	c.(64-66)CCG>CTG	p.P22L	ZNF200_uc002cum.3_Missense_Mutation_p.P22L|ZNF200_uc010bti.2_Missense_Mutation_p.P22L|ZNF200_uc002cuk.2_Missense_Mutation_p.P22L|ZNF200_uc002cui.2_Missense_Mutation_p.P22L|ZNF200_uc002cul.3_Missense_Mutation_p.P22L	NM_003454	NP_003445	P98182	ZN200_HUMAN	zinc finger protein 200 isoform 1	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						GGAGTCTGGCGGAACTCTCAG	0.562													A	3283691	G	A	3283691	3	1	1	1	0	0	0	0	1	0	0	0	17759	1116	39	1	1138	1	ZNF200	16	3283691	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1257601	3283691	87071062	1105	1105											
BTBD12	84464	broad.mit.edu	37	chr16	3632656	3632656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgccctcctcttcacctGcagactcaaatgccgctcca	5	20	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:3632656G>A	uc002cvp.2	-	15	5819	c.5192C>T	c.(5191-5193)GCA>GTA	p.A1731V		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1731	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						CTCTTCACCTGCAGACTCAAA	0.617								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				A	3632656	G	A	3632656	3	1	1	1	0	0	0	0	1	0	0	0	1540	1319	46	2	316	2	BTBD12	16	3632656	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	348965	3632656	86722097	1106	1106											
BTBD12	84464	broad.mit.edu	37	chr16	3633383	3633383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagggtctggcagtgaggcGcctgcaacagcggctgtgag	18	10	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:3633383G>A	uc002cvp.2	-	14	5495	c.4868C>T	c.(4867-4869)GCG>GTG	p.A1623V		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1623	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						GCAGTGAGGCGCCTGCAACAG	0.622								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				A	3633383	G	A	3633383	3	1	1	1	0	0	0	0	1	0	0	0	1540	1087	38	1	644	1	BTBD12	16	3633383	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	727	3633383	86721370	1107	1107											
TRAP1	10131	broad.mit.edu	37	chr16	3716054	3716054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaactttgcatacttctcaGcatcttttttactctggtca	4	10	4	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:3716054G>A	uc002cvt.3	-	12	1390	c.1301C>T	c.(1300-1302)GCT>GTT	p.A434V	TRAP1_uc002cvs.2_Missense_Mutation_p.A225V|TRAP1_uc010uxf.1_Missense_Mutation_p.A381V	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	434					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)				ATACTTCTCAGCATCTTTTTT	0.443													A	3716054	G	A	3716054	3	1	1	1	0	0	0	0	1	0	0	0	16452	971	34	2	841	2	TRAP1	16	3716054	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	82671	3716054	86638699	1108	1108											
CREBBP	1387	broad.mit.edu	37	chr16	3778795	3778795	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgagaatgttcagcacctGctgttgctgctgaggggagc	14	8	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:3778795G>A	uc002cvv.2	-	31	6457	c.6253C>T	c.(6253-6255)CAG>TAG	p.Q2085*	CREBBP_uc002cvw.2_Nonsense_Mutation_p.Q2047*	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2085	Poly-Gln.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTCAGCACCTGCTGTTGCTGC	0.607			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				A	3778795	G	A	3778795	4	1	1	1	0	0	0	0	0	1	0	0	3861	1328	46	2	1079	2	CREBBP	16	3778795	Nonsense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	62741	3778795	86575958	1109	1109											
MGRN1	23295	broad.mit.edu	37	chr16	4723611	4723611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcctctgtacctcctgcgCcgacacgctgcgctaccagg	11	17	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:4723611C>T	uc002cwz.2	+	10	1044	c.908C>T	c.(907-909)GCC>GTC	p.A303V	MGRN1_uc002cxa.2_Missense_Mutation_p.A303V|MGRN1_uc010btx.2_Missense_Mutation_p.A304V|MGRN1_uc010btw.2_Missense_Mutation_p.A304V|MGRN1_uc002cxb.2_Missense_Mutation_p.A342V|MGRN1_uc010uxo.1_Missense_Mutation_p.A303V|MGRN1_uc010uxp.1_Missense_Mutation_p.A303V|MGRN1_uc010uxq.1_RNA	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 3	303	RING-type.				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						ACCTCCTGCGCCGACACGCTG	0.637													T	4723611	C	T	4723611	3	4	1	1	0	0	0	0	1	0	0	0	9559	739	26	2	949	2	MGRN1	16	4723611	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	944816	4723611	85631142	1110	1110											
PPL	5493	broad.mit.edu	37	chr16	4947716	4947716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgaggtggctctcctcgCagatgagcaggttcaggtac	13	10	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:4947716C>T	uc002cyd.1	-	9	1022	c.932G>A	c.(931-933)TGC>TAC	p.C311Y		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	311	Potential.|Spectrin 1.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						GCTCTCCTCGCAGATGAGCAG	0.607													T	4947716	C	T	4947716	3	4	1	1	0	0	0	0	1	0	0	0	12334	710	25	2	4394	2	PPL	16	4947716	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	224105	4947716	85407037	1111	1111											
SEC14L5	9717	broad.mit.edu	37	chr16	5058571	5058571	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggccagcgggcagctgatCgacaaaggctgggtcctggg	18	10	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:5058571C>T	uc002cye.2	+	14	1902	c.1722C>T	c.(1720-1722)ATC>ATT	p.I574I		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	574	GOLD.					integral to membrane|intracellular	transporter activity				0						GGCAGCTGATCGACAAAGGCT	0.647													T	5058571	C	T	5058571	2	4	1	1	0	0	0	0	0	0	0	1	13985	874	31	1		1	SEC14L5	16	5058571	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	110855	5058571	85296182	1112	1112											
ABAT	18	broad.mit.edu	37	chr16	8862106	8862106	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgggcgcgttccatgggagGaccatgggtaaggagggacc	18	8	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:8862106G>A	uc002czc.3	+	10	826	c.660G>A	c.(658-660)AGG>AGA	p.R220R	ABAT_uc002czd.3_Silent_p.R220R|ABAT_uc010buh.2_Silent_p.R162R|ABAT_uc010bui.2_Silent_p.R220R	NM_020686	NP_065737	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase precursor	220			R -> K (in GABATD; 25% reduction in activity).		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)	TCCATGGGAGGACCATGGGTA	0.468													A	8862106	G	A	8862106	2	1	1	1	0	0	0	0	0	0	0	1	27	1165	41	4		4	ABAT	16	8862106	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	3803535	8862106	81492647	1113	1113											
ABAT	18	broad.mit.edu	37	chr16	8866730	8866730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagggtggagacaaccacGcatccgatgacttctttcgg	12	12	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:8866730G>A	uc002czc.3	+	12	1076	c.910G>A	c.(910-912)GCA>ACA	p.A304T	ABAT_uc002czd.3_Missense_Mutation_p.A304T|ABAT_uc010buh.2_Missense_Mutation_p.A246T|ABAT_uc010bui.2_Missense_Mutation_p.A304T	NM_020686	NP_065737	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase precursor	304					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)	AGACAACCACGCATCCGATGA	0.547													A	8866730	G	A	8866730	3	1	1	1	0	0	0	0	1	0	0	0	27	1087	38	1	952	1	ABAT	16	8866730	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	4624	8866730	81488023	1114	1114											
GRIN2A	2903	broad.mit.edu	37	chr16	9943686	9943686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggggtctatgtcttccaCgatgacgaatggggcctcct	13	11	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:9943686C>T	uc002czo.3	-	5	1803	c.1255G>A	c.(1255-1257)GTG>ATG	p.V419M	GRIN2A_uc010uym.1_Missense_Mutation_p.V419M|GRIN2A_uc010uyn.1_Missense_Mutation_p.V262M|GRIN2A_uc002czr.3_Missense_Mutation_p.V419M	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	419	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGTCTTCCACGATGACGAAT	0.572													T	9943686	C	T	9943686	3	4	1	1	0	0	0	0	1	0	0	0	6779	536	19	1	3175	1	GRIN2A	16	9943686	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1076956	9943686	80411067	1115	1115											
CLEC16A	23274	broad.mit.edu	37	chr16	11154783	11154783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgggtgttcttcatgctgCgttccctgtcactgcaattg	10	12	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:11154783C>T	uc002dao.2	+	19	2250	c.2020C>T	c.(2020-2022)CGT>TGT	p.R674C	CLEC16A_uc002dan.3_Missense_Mutation_p.R656C	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	674										ovary(1)|central_nervous_system(1)	2						CTTCATGCTGCGTTCCCTGTC	0.537													T	11154783	C	T	11154783	3	4	1	1	0	0	0	0	1	0	0	0	3500	768	27	1	2090	1	CLEC16A	16	11154783	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1211097	11154783	79199970	1116	1116											
RSL1D1	26156	broad.mit.edu	37	chr16	11933734	11933734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtatcaccactttcaggtgCcacatcatctttactaagaa	5	11	4	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:11933734C>T	uc002dbp.1	-	8	1037	c.964G>A	c.(964-966)GCA>ACA	p.A322T	RSL1D1_uc010buv.1_Missense_Mutation_p.A321T|RSL1D1_uc010uyw.1_Missense_Mutation_p.A102T|RSL1D1_uc010buw.2_RNA	NM_015659	NP_056474	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	322					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0						CTTTCAGGTGCCACATCATCT	0.289													T	11933734	C	T	11933734	3	4	1	1	0	0	0	0	1	0	0	0	13700	739	26	2	516	2	RSL1D1	16	11933734	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	778951	11933734	78421019	1117	1117											
ERCC4	2072	broad.mit.edu	37	chr16	14038694	14038694	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgacactcggaaagccggTgagtcctgcactttgtcagg	12	11	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:14038694T>C	uc002dce.2	+	10	2026	c.2017_splice	c.e10+2	p.G673_splice	ERCC4_uc010uyz.1_Splice_Site_p.G223_splice	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent						double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			lung(4)|ovary(3)|skin(2)|pancreas(1)	10						GGAAAGCCGGTGAGTCCTGCA	0.483			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				C	14038694	T	C	14038694	5	2	1	1	0	0	0	0	0	0	1	0	5215	1710	59	3	2057	3	ERCC4	16	14038694	Splice_Site	SNP	T	TCGA-B7-5816-01A-21D-1600-08	2104960	14038694	76316059	1118	1118											
ABCC6	368	broad.mit.edu	37	chr16	16244625	16244625	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacaggagctgtttctggcCcacgctgggaacgattggga	14	10	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:16244625C>A	uc002den.3	-	30	4250	c.4213G>T	c.(4213-4215)GGC>TGC	p.G1405C	ABCC6_uc010bvo.2_RNA|ABCC6_uc002dem.2_Missense_Mutation_p.G157C	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	1405	Cytoplasmic (By similarity).|ABC transporter 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TGTTTCTGGCCCACGCTGGGA	0.602													A	16244625	C	A	16244625	3	1	1	1	0	0	0	0	1	0	0	0	57	623	22	5	306	5	ABCC6	16	16244625	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2205931	16244625	74110128	1119	1119											
SMG1	23049	broad.mit.edu	37	chr16	18853038	18853038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaccggggtgtttcttggCgattaattgtagcaaacatg	13	6	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:18853038C>T	uc002dfm.2	-	41	6908	c.6545G>A	c.(6544-6546)CGC>CAC	p.R2182H	SMG1_uc010bwb.2_Missense_Mutation_p.R2042H|SMG1_uc010bwa.2_Missense_Mutation_p.R913H|SMG1_uc002dfo.3_Missense_Mutation_p.R480H	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2182	PI3K/PI4K.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						TGTTTCTTGGCGATTAATTGT	0.398													T	18853038	C	T	18853038	3	4	1	1	0	0	0	0	1	0	0	0	14795	768	27	1	4532	1	SMG1	16	18853038	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2608413	18853038	71501715	1120	1120											
TMC5	79838	broad.mit.edu	37	chr16	19501744	19501744	+	Frame_Shift_Del	DEL	T	T	-													ccttcagctgactgtggcccTtttcgaggtctgcctctctt							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:19501743_19501743CT>C	uc002dgc.4	+	17	3349	c.2600_2600CT>C	c.(2599-2601)cctfs	p.P867fs	TMC5_uc010vaq.2_Frame_Shift_Del_p.P815fs|TMC5_uc002dgb.4_Intron|TMC5_uc010var.2_Frame_Shift_Del_p.P867fs|TMC5_uc002dgd.1_Frame_Shift_Del_p.P621fs|TMC5_uc002dge.4_Frame_Shift_Del_p.P621fs|TMC5_uc002dgf.4_Frame_Shift_Del_p.P550fs|TMC5_uc002dgg.4_Frame_Shift_Del_p.P508fs	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	867						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GACTGTGGCCCTTTTCGAGGT	0.488													-	19501744	T	-	19501744	7	5	1	1	0	1	0	1	0	0	0	0	15985	1596	56	0	2977	0	TMC5	16	19501744	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	648706	19501744	70853009	1121	1121											
C16orf62	57020	broad.mit.edu	37	chr16	19580856	19580856	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgtcctcgatgggacTgaccccctctccatgtttgc	10	15	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:19580856T>A	uc002dgn.1	+	3	240	c.228T>A	c.(226-228)ACT>ACA	p.T76T	C16orf62_uc002dgo.1_Silent_p.T76T|C16orf62_uc010vas.1_5'UTR|C16orf62_uc002dgm.1_Silent_p.T76T	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	76						integral to membrane				ovary(1)	1						TCGATGGGACTGACCCCCTCT	0.597													A	19580856	T	A	19580856	2	1	1	1	0	0	0	0	0	0	0	1	1825	1567	55	5		5	C16orf62	16	19580856	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	79112	19580856	70773897	1122	1122											
PDILT	204474	broad.mit.edu	37	chr16	20373875	20373875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctccaacagtgggaacaGcatcttgcactttttagacc	7	12	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:20373875G>A	uc002dhc.1	-	10	1490	c.1267C>T	c.(1267-1269)CTG>TTG	p.L423L		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	423	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1						AGTGGGAACAGCATCTTGCAC	0.463													A	20373875	G	A	20373875	2	1	1	1	0	0	0	0	0	0	0	1	11674	962	34	2		2	PDILT	16	20373875	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	793019	20373875	69980878	1123	1123											
DNAH3	55567	broad.mit.edu	37	chr16	21145622	21145622	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagcatcatggggttcAccgtgtgcagatgctcctcg	13	12	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:21145622A>G	uc010vbe.1	-	7	1040	c.1040T>C	c.(1039-1041)GTG>GCG	p.V347A	DNAH3_uc002die.2_Missense_Mutation_p.V318A	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	347	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CATGGGGTTCACCGTGTGCAG	0.527													G	21145622	A	G	21145622	3	3	1	1	0	0	0	0	1	0	0	0	4603	159	6	3	11533	3	DNAH3	16	21145622	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	771747	21145622	69209131	1124	1124											
ERN2	10595	broad.mit.edu	37	chr16	23713786	23713786	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgctgggtgagccctctcGctctcctgagacttggagtg	14	11	2	2	rs144370049		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:23713786G>A	uc002dma.3	-	10	1319	c.1150C>T	c.(1150-1152)CGA>TGA	p.R384*	ERN2_uc010bxp.2_Nonsense_Mutation_p.R384*|ERN2_uc010bxq.1_Nonsense_Mutation_p.R192*	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	336	Lumenal (Potential).				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GAGCCCTCTCGCTCTCCTGAG	0.597													A	23713786	G	A	23713786	4	1	1	1	0	0	0	0	0	1	0	0	5238	1095	38	1	1826	1	ERN2	16	23713786	Nonsense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2568164	23713786	66640967	1125	1125											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25258237	25258237	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acggagcacgggctgcagggTtcaacaaagcatccatgtcc	12	12	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:25258237T>C	uc002dod.3	-	5	1687	c.1280A>G	c.(1279-1281)AAC>AGC	p.N427S	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.N223S|ZKSCAN2_uc002doe.2_Missense_Mutation_p.N427S	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	427					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		GGCTGCAGGGTTCAACAAAGC	0.488													C	25258237	T	C	25258237	3	2	1	1	0	0	0	0	1	0	0	0	17684	1725	60	3	1635	3	ZKSCAN2	16	25258237	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1544451	25258237	65096516	1126	1126											
GTF3C1	2975	broad.mit.edu	37	chr16	27539961	27539961	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattcagggtggatctcttGcaagcgaagagacaccacct	10	11	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:27539961G>A	uc002dov.1	-	6	971	c.931C>T	c.(931-933)CAA>TAA	p.Q311*	GTF3C1_uc002dou.2_Nonsense_Mutation_p.Q311*	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	311						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						TGGATCTCTTGCAAGCGAAGA	0.498													A	27539961	G	A	27539961	4	1	1	1	0	0	0	0	0	1	0	0	6872	1328	46	2	5526	2	GTF3C1	16	27539961	Nonsense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2281724	27539961	62814792	1127	1127											
KIAA0556	23247	broad.mit.edu	37	chr16	27751547	27751547	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggaagaaagcaaaggcacCcatgagatggctggtgccag	14	9	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:27751547C>A	uc002dow.2	+	15	1953	c.1929C>A	c.(1927-1929)ACC>ACA	p.T643T		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	643	Potential.									ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						GCAAAGGCACCCATGAGATGG	0.552													A	27751547	C	A	27751547	2	1	1	1	0	0	0	0	0	0	0	1	8183	610	22	5		5	KIAA0556	16	27751547	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	211586	27751547	62603206	1128	1128											
TAOK2	9344	broad.mit.edu	37	chr16	29998312	29998312	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggaggaggaagaagaggaaGagggggctccgattgggacc	20	5	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:29998312G>A	uc002dva.1	+	16	3502	c.2719G>A	c.(2719-2721)GAG>AAG	p.E907K	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.E914K|TAOK2_uc002dvd.1_Missense_Mutation_p.E734K	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	907	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						AGAAGAGGAAGAGGGGGCTCC	0.622													A	29998312	G	A	29998312	3	1	1	1	0	0	0	0	1	0	0	0	15545	943	33	4	2777	4	TAOK2	16	29998312	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2246765	29998312	60356441	1129	1129											
SEPT1	1731	broad.mit.edu	37	chr16	30392561	30392561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggccacatctaggggccGgagcctgcacccagggattg	15	12	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:30392561G>A	uc002dxy.2	-	7	632	c.445C>T	c.(445-447)CGG>TGG	p.R149W	SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_5'UTR|SEPT1_uc010veq.1_3'UTR	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	septin 1	149				LRP -> SR (in Ref. 1; AAL40393).	cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			ovary(1)	1			Colorectal(24;0.193)			TCTAGGGGCCGGAGCCTGCAC	0.637													A	30392561	G	A	30392561	3	1	1	1	0	0	0	0	1	0	0	0	14059	1115	39	1	682	1	SEPT1	16	30392561	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	394249	30392561	59962192	1130	1130											
STX1B	112755	broad.mit.edu	37	chr16	31004510	31004510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagacacagctcgctccaCgtagtccacagaatgttcca	8	14	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:31004510C>T	uc010cad.2	-	9	839	c.727G>A	c.(727-729)GTG>ATG	p.V243M	STX1B_uc010vfd.1_Missense_Mutation_p.V243M	NM_052874	NP_443106	P61266	STX1B_HUMAN	syntaxin 1B	243	t-SNARE coiled-coil homology.|Cytoplasmic (Potential).				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity				0						GCTCGCTCCACGTAGTCCACA	0.607													T	31004510	C	T	31004510	3	4	1	1	0	0	0	0	1	0	0	0	15343	536	19	1	147	1	STX1B	16	31004510	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	611949	31004510	59350243	1131	1131											
PAPD5	64282	broad.mit.edu	37	chr16	50256229	50256229	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttttcagaaatatcctgtaTtgccatacttggttttagta	6	6	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:50256229T>A	uc010vgo.1	+	7	1041	c.1006T>A	c.(1006-1008)TTG>ATG	p.L336M	PAPD5_uc010cbi.2_RNA|PAPD5_uc002efz.2_Missense_Mutation_p.L127M|PAPD5_uc002ega.2_Missense_Mutation_p.L127M	NM_001040284	NP_001035374	Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5 isoform a	257					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding				0		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		ATATCCTGTATTGCCATACTT	0.328													A	50256229	T	A	50256229	3	1	1	1	0	0	0	0	1	0	0	0	11425	1490	52	5	1032	5	PAPD5	16	50256229	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	19251719	50256229	40098524	1132	1132											
ADCY7	113	broad.mit.edu	37	chr16	50343556	50343556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccctgtgtgagcccctccCggtgagtgcgccgggcccgg	16	16	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:50343556C>T	uc002egd.1	+	17	2427	c.2159C>T	c.(2158-2160)CCG>CTG	p.P720L	ADCY7_uc002egc.1_Missense_Mutation_p.P720L	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	720	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GAGCCCCTCCCGGTGAGTGCG	0.632													T	50343556	C	T	50343556	3	4	1	1	0	0	0	0	1	0	0	0	299	666	23	1	2225	1	ADCY7	16	50343556	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	87327	50343556	40011197	1133	1133											
SALL1	6299	broad.mit.edu	37	chr16	51175243	51175243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggctctgtgccaatccaGctgctgctgccagctgctga	12	14	1	1	rs59416382		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:51175243G>A	uc010vgs.1	-	2	921	c.890C>T	c.(889-891)GCT>GTT	p.A297V	SALL1_uc010vgr.1_Missense_Mutation_p.A200V|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	297	Poly-Ala.				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGCCAATCCAGCTGCTGCTGC	0.522													A	51175243	G	A	51175243	3	1	1	1	0	0	0	0	1	0	0	0	13810	971	34	2	3092	2	SALL1	16	51175243	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	831687	51175243	39179510	1134	1134											
IRX5	10265	broad.mit.edu	37	chr16	54967668	54967668	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaatggattaaaccagacCgtgttgaaccgagcggacgc	11	10	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:54967668C>T	uc002ehv.2	+	3	1335	c.1335C>T	c.(1333-1335)ACC>ACT	p.T445T	IRX5_uc002ehw.2_Silent_p.T379T	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	445					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						TAAACCAGACCGTGTTGAACC	0.557													T	54967668	C	T	54967668	2	4	1	1	0	0	0	0	0	0	0	1	7847	639	23	1		1	IRX5	16	54967668	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3792425	54967668	35387085	1135	1135											
CX3CL1	6376	broad.mit.edu	37	chr16	57416257	57416258	+	Frame_Shift_Ins	INS	-	-	C													gttcctcagggaccaggctcINScccccgacgccaaaggctca							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:57416256_57416257T>TC	uc002eli.3	+	2	573_574	c.506_507T>TC	c.(505-507)ctcfs	p.L169fs		NM_002996	NP_002987	P78423	X3CL1_HUMAN	Homo sapiens chemokine (C-X3-C motif) ligand 1 (CX3CL1), mRNA.	169	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGGACCAGGCTCCCCCCGACGC	0.673													C	57416258	-	C	57416257	7	5	1	1	0	1	1	0	0	0	0	0	4074	842	30	0	517	0	CX3CL1	16	57416257	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	2448589	57416257	32938496	1136	1136											
CCDC135	84229	broad.mit.edu	37	chr16	57760152	57760152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgaggtggacagcaaagGcaacaagatcatcatgacgc	11	11	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:57760152G>A	uc002emi.2	+	13	2020	c.1931G>A	c.(1930-1932)GGC>GAC	p.G644D	CCDC135_uc002emj.2_Missense_Mutation_p.G644D|CCDC135_uc002emk.2_Missense_Mutation_p.G579D	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	644						cytoplasm				central_nervous_system(1)	1						GACAGCAAAGGCAACAAGATC	0.667													A	57760152	G	A	57760152	3	1	1	1	0	0	0	0	1	0	0	0	2769	1203	42	2	1977	2	CCDC135	16	57760152	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	343895	57760152	32594601	1137	1137											
PRSS54	221191	broad.mit.edu	37	chr16	58324876	58324876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactggcctgttctgaatggCggatgcgatgctgaggaccc	14	11	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:58324876C>T	uc002enf.2	-	4	645	c.250G>A	c.(250-252)GCC>ACC	p.A84T	PRSS54_uc002eng.2_Missense_Mutation_p.A84T|PRSS54_uc010vie.1_Intron	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	84	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						TTCTGAATGGCGGATGCGATG	0.652													T	58324876	C	T	58324876	3	4	1	1	0	0	0	0	1	0	0	0	12633	768	27	1	953	1	PRSS54	16	58324876	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	564724	58324876	32029877	1138	1138											
SETD6	79918	broad.mit.edu	37	chr16	58551980	58551980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcggatggtagccactcAgcccattcctaaaggccatg	9	13	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:58551980A>G	uc002ens.2	+	6	877	c.818A>G	c.(817-819)CAG>CGG	p.Q273R	SETD6_uc002enr.2_Missense_Mutation_p.Q249R|SETD6_uc010cdm.2_RNA	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN	SET domain containing 6 isoform a	273	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			ovary(1)	1						GTAGCCACTCAGCCCATTCCT	0.463													G	58551980	A	G	58551980	3	3	1	1	0	0	0	0	1	0	0	0	14135	188	7	3	840	3	SETD6	16	58551980	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	227104	58551980	31802773	1139	1139											
CDH8	1006	broad.mit.edu	37	chr16	61935244	61935244	+	Frame_Shift_Del	DEL	T	T	-													ctgttagggtatactcagccTtttcctcccggtcaagtctt							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:61935243_61935243CT>C	uc002eog.2	-	2	1342	c.387_387AG>G	c.(385-387)aagfs	p.K129fs		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	129	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E128*(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TATACTCAGCCTTTTCCTCCC	0.408													-	61935244	T	-	61935244	7	5	1	1	0	1	0	1	0	0	0	0	3116	1609	56	0	2053	0	CDH8	16	61935244	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	3383264	61935244	28419509	1140	1140											
CDH11	1009	broad.mit.edu	37	chr16	64981565	64981565	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atctgctagtttcttaaaacGaggtccccagttctgtagat	8	9	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:64981565G>T	uc002eoi.2	-	13	2766	c.2332C>A	c.(2332-2334)CGT>AGT	p.R778S	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Missense_Mutation_p.R652S	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	778	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTCTTAAAACGAGGTCCCCAG	0.458			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			T	64981565	G	T	64981565	3	4	1	1	0	0	0	0	1	0	0	0	3097	1058	37	5	62	5	CDH11	16	64981565	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	3046321	64981565	25373188	1141	1141											
DYNC1LI2	1783	broad.mit.edu	37	chr16	66764114	66764114	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctattttcttttcattgtcCcagcctgcaggtctaaaggc	8	11	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:66764114C>A	uc002eqb.1	-	8	973	c.942G>T	c.(940-942)TGG>TGT	p.W314C	DYNC1LI2_uc010vis.1_Missense_Mutation_p.W237C	NM_006141	NP_006132	O43237	DC1L2_HUMAN	dynein, cytoplasmic, light intermediate	314					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|skin(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TTTCATTGTCCCAGCCTGCAG	0.443													A	66764114	C	A	66764114	3	1	1	1	0	0	0	0	1	0	0	0	4845	624	22	5	560	5	DYNC1LI2	16	66764114	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1782549	66764114	23590639	1142	1142											
CDH16	1014	broad.mit.edu	37	chr16	66944197	66944197	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgccaatcccgttgcacCgtggggttgggaccaagggt	16	11	0	0	rs149929306		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:66944197C>T	uc002eql.2	-	15	2206	c.2133G>A	c.(2131-2133)ACG>ACA	p.T711T	CDH16_uc010cdy.2_Silent_p.T689T|CDH16_uc002eqm.2_Silent_p.T614T	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	711	Extracellular (Potential).|Ectodomain G.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCCGTTGCACCGTGGGGTTGG	0.632													T	66944197	C	T	66944197	2	4	1	1	0	0	0	0	0	0	0	1	3101	639	23	1		1	CDH16	16	66944197	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	180083	66944197	23410556	1143	1143											
SLC9A5	6553	broad.mit.edu	37	chr16	67289730	67289730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctggccctgaccacaCgcttcaccaagcgggtccgc	9	19	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:67289730C>T	uc002esm.2	+	5	871	c.808C>T	c.(808-810)CGC>TGC	p.R270C	SLC9A5_uc010cee.2_Translation_Start_Site|SLC9A5_uc010vji.1_Intron	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	270					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CCTGACCACACGCTTCACCAA	0.627													T	67289730	C	T	67289730	3	4	1	1	0	0	0	0	1	0	0	0	14717	536	19	1	826	1	SLC9A5	16	67289730	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	345533	67289730	23065023	1144	1144											
FAM65A	79567	broad.mit.edu	37	chr16	67572574	67572574	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggacagcctctccttcaGgagtttcccggtcttcagcc	10	14	4	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:67572574G>A	uc010vjp.1	+	3	261	c.165_splice	c.e3-1	p.R55_splice	FAM65A_uc010cei.1_Splice_Site|FAM65A_uc002eth.2_Splice_Site_p.R35_splice|FAM65A_uc010cej.2_Missense_Mutation_p.R38K|FAM65A_uc002eti.1_Intron|FAM65A_uc010vjq.1_Splice_Site_p.R49_splice|FAM65A_uc002etj.1_Splice_Site_p.R34_splice|FAM65A_uc002etk.2_Splice_Site_p.R34_splice	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567							cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CTCTCCTTCAGGAGTTTCCCG	0.662													A	67572574	G	A	67572574	5	1	1	1	0	0	0	0	0	0	1	0	5599	1014	35	4	110	4	FAM65A	16	67572574	Splice_Site	SNP	G	TCGA-B7-5816-01A-21D-1600-08	282844	67572574	22782179	1145	1145											
CTCF	10664	broad.mit.edu	37	chr16	67650676	67650676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcacaagtgcccagactgCgacatggcctttgtgaccag	10	14	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:67650676C>T	uc002etl.2	+	5	1271	c.981C>T	c.(979-981)TGC>TGT	p.C327C	CTCF_uc010cek.2_5'UTR	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	327	C2H2-type 3.				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GCCCAGACTGCGACATGGCCT	0.498													T	67650676	C	T	67650676	2	4	1	1	0	0	0	0	0	0	0	1	4000	776	27	1		1	CTCF	16	67650676	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	78102	67650676	22704077	1146	1146											
LCAT	3931	broad.mit.edu	37	chr16	67976822	67976822	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgccaaagccagggacGcggatctggacaccaggggc	15	12	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:67976822G>A	uc002euy.1	-	3	380	c.369C>T	c.(367-369)CGC>CGT	p.R123R		NM_000229	NP_000220	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase precursor	123			R -> C (in FED).		cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		AGCCAGGGACGCGGATCTGGA	0.657													A	67976822	G	A	67976822	2	1	1	1	0	0	0	0	0	0	0	1	8658	1074	38	1		1	LCAT	16	67976822	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	326146	67976822	22377931	1147	1147											
SLC12A4	6560	broad.mit.edu	37	chr16	67988673	67988673	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatcatgaaataggagcccCcagctacagcagagaaatga	10	9	1	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:67988673C>A	uc002euz.2	-	6	689	c.548G>T	c.(547-549)GGG>GTG	p.G183V	SLC12A4_uc010ceu.2_Missense_Mutation_p.G177V|SLC12A4_uc010vkh.1_Missense_Mutation_p.G152V|SLC12A4_uc010vki.1_Missense_Mutation_p.G183V|SLC12A4_uc010vkj.1_Missense_Mutation_p.G185V|SLC12A4_uc002eva.2_Missense_Mutation_p.G183V|SLC12A4_uc002evb.2_RNA|SLC12A4_uc010cew.1_Missense_Mutation_p.G66V	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	183	Cytoplasmic (Potential).				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATAGGAGCCCCCAGCTACAGC	0.453													A	67988673	C	A	67988673	3	1	1	1	0	0	0	0	1	0	0	0	14385	623	22	5	2785	5	SLC12A4	16	67988673	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	11851	67988673	22366080	1148	1148											
CDH3	1001	broad.mit.edu	37	chr16	68716295	68716295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccaactcaccagcgtggCgtgccacctaccttatcatg	7	18	2	0	rs74026937	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:68716295C>T	uc002ewf.2	+	9	2219	c.1087C>T	c.(1087-1089)CGT>TGT	p.R363C	CDH3_uc010vli.1_Missense_Mutation_p.R308C	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	363	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		ACCAGCGTGGCGTGCCACCTA	0.597													T	68716295	C	T	68716295	3	4	1	1	0	0	0	0	1	0	0	0	3111	768	27	1	1121	1	CDH3	16	68716295	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	727622	68716295	21638458	1149	1149											
TMCO7	79613	broad.mit.edu	37	chr16	68901094	68901094	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctaatggtgttcaggcagTagtccggggcattttggaag	14	7	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:68901094T>C	uc002ewi.3	+	4	977	c.965T>C	c.(964-966)GTA>GCA	p.V322A	TMCO7_uc002ewh.2_Missense_Mutation_p.V322A	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	322						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		GTTCAGGCAGTAGTCCGGGGC	0.478													C	68901094	T	C	68901094	3	2	1	1	0	0	0	0	1	0	0	0	15998	1638	57	3	979	3	TMCO7	16	68901094	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	184799	68901094	21453659	1150	1150											
WWP2	11060	broad.mit.edu	37	chr16	69959368	69959368	+	Frame_Shift_Del	DEL	C	C	-													actgaccatgatcccctgggCcccctccctcctggctgggg							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:69959367_69959367GC>G	uc002exu.1	+	11	1303	c.1214_1214GC>G	c.(1213-1215)ggcfs	p.G405fs	WWP2_uc002exv.1_Frame_Shift_Del_p.G405fs|WWP2_uc010vlm.1_Frame_Shift_Del_p.G289fs|WWP2_uc010vln.1_Frame_Shift_Del_p.G23fs|WWP2_uc002exw.1_5'UTR	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	405	WW 3.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GATCCCCTGGGCCCCCTCCCT	0.532													-	69959368	C	-	69959368	7	5	1	1	0	1	0	1	0	0	0	0	17413	726	26	0	1257	0	WWP2	16	69959368	Frame_Shift_Del	DEL	C	TCGA-B7-5816-01A-21D-1600-08	1058274	69959368	20395385	1151	1151											
PDPR	55066	broad.mit.edu	37	chr16	70166126	70166126	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctgggggctttgagaAgaacccgaaaccaattttca	10	10	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:70166126A>G	uc002eyf.1	+	9	1877	c.920A>G	c.(919-921)AAG>AGG	p.K307R	CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.K207R|PDPR_uc002eyg.1_Missense_Mutation_p.K35R	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory	307					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.124)		GGCTTTGAGAAGAACCCGAAA	0.473													G	70166126	A	G	70166126	3	3	1	1	0	0	0	0	1	0	0	0	11689	72	3	3	946	3	PDPR	16	70166126	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	206758	70166126	20188627	1152	1152											
HYDIN	54768	broad.mit.edu	37	chr16	70891679	70891679	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcggtagttttgcctaccAgcaggaaagggactgtgatg	14	7	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:70891679A>G	uc002ezr.2	-	72	12349	c.12221T>C	c.(12220-12222)CTG>CCG	p.L4074P	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4075										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TTTGCCTACCAGCAGGAAAGG	0.473													G	70891679	A	G	70891679	3	3	1	1	0	0	0	0	1	0	0	0	7467	188	7	3	3201	3	HYDIN	16	70891679	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	725553	70891679	19463074	1153	1153											
PHLPP2	23035	broad.mit.edu	37	chr16	71689152	71689152	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctgcttacctgtgagatAccaagaaggtgttagccatg	10	10	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:71689152A>G	uc002fax.2	-	16	2582	c.2576T>C	c.(2575-2577)GTA>GCA	p.V859A	PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Missense_Mutation_p.V792A	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	859	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						CCTGTGAGATACCAAGAAGGT	0.428													G	71689152	A	G	71689152	3	3	1	1	0	0	0	0	1	0	0	0	11855	391	14	3	1407	3	PHLPP2	16	71689152	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	797473	71689152	18665601	1154	1154											
ZFHX3	463	broad.mit.edu	37	chr16	72991949	72991949	+	Frame_Shift_Del	DEL	C	C	-													ttttgcagtagacacaggagCcccccggctccgggtgcttc							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:72991948_72991948GC>G	uc002fck.3	-	1	2770	c.2097_2097GC>C	c.(2095-2097)ggcfs	p.G699fs	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	699					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G699fs*125(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGACACAGGAGCCCCCCGGCT	0.597													-	72991949	C	-	72991949	7	5	1	1	0	1	0	1	0	0	0	0	17631	739	26	0	9051	0	ZFHX3	16	72991949	Frame_Shift_Del	DEL	C	TCGA-B7-5816-01A-21D-1600-08	1302797	72991949	17362804	1155	1155											
ADAT1	23536	broad.mit.edu	37	chr16	75646156	75646156	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcaccttccaatcagtgctCtctgcatggcttcctggctg	8	15	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:75646156C>A	uc002feo.1	-	7	1130	c.1028G>T	c.(1027-1029)AGA>ATA	p.R343I	ADAT1_uc002fep.1_Missense_Mutation_p.R194I	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	343	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			ovary(1)|skin(1)	2						AATCAGTGCTCTCTGCATGGC	0.348													A	75646156	C	A	75646156	3	1	1	1	0	0	0	0	1	0	0	0	284	913	32	5	500	5	ADAT1	16	75646156	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2654207	75646156	14708597	1156	1156											
ATMIN	23300	broad.mit.edu	37	chr16	81078031	81078031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgatatcgaagagttcttttCggcctcaaatatccagactc	7	10	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:81078031C>T	uc002ffz.1	+	4	1946	c.1928C>T	c.(1927-1929)TCG>TTG	p.S643L	ATMIN_uc002fga.2_Missense_Mutation_p.S485L|ATMIN_uc010vnn.1_Missense_Mutation_p.S414L|ATMIN_uc002fgb.1_Missense_Mutation_p.S485L	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	643					response to DNA damage stimulus	nucleus	zinc ion binding				0						GAGTTCTTTTCGGCCTCAAAT	0.498													T	81078031	C	T	81078031	3	4	1	1	0	0	0	0	1	0	0	0	1110	893	31	1	1942	1	ATMIN	16	81078031	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	5431875	81078031	9276722	1157	1157											
HSDL1	83693	broad.mit.edu	37	chr16	84163719	84163719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggaccatcaaactagcggCggcaatgttcacatttatga	9	9	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:84163719C>T	uc002fhk.2	-	4	722	c.538G>A	c.(538-540)GCC>ACC	p.A180T	HSDL1_uc010vnv.1_Missense_Mutation_p.A125T	NM_031463	NP_113651	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1 isoform a	180						mitochondrion	oxidoreductase activity|protein binding				0						AAACTAGCGGCGGCAATGTTC	0.498													T	84163719	C	T	84163719	3	4	1	1	0	0	0	0	1	0	0	0	7393	768	27	1	466	1	HSDL1	16	84163719	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3085688	84163719	6191034	1158	1158											
ANKRD11	29123	broad.mit.edu	37	chr16	89348778	89348778	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaagtccttttcgtacTggccggagtccttcctgcta	10	13	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:89348778T>G	uc002fmx.1	-	9	4633	c.4172A>C	c.(4171-4173)CAG>CCG	p.Q1391P	ANKRD11_uc002fmy.1_Missense_Mutation_p.Q1391P|ANKRD11_uc002fnc.1_Missense_Mutation_p.Q1391P|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.Q1348P	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1391	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTTTTCGTACTGGCCGGAGTC	0.483													G	89348778	T	G	89348778	3	3	1	1	0	0	0	0	1	0	0	0	639	1580	55	5	3839	5	ANKRD11	16	89348778	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	5185059	89348778	1005975	1159	1159											
SPG7	6687	broad.mit.edu	37	chr16	89620279	89620279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggatggcacctggcatcGggcccatctccttccctgag	12	14	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:89620279G>A	uc002fnj.2	+	15	2035	c.2014G>A	c.(2014-2016)GGG>AGG	p.G672R	SPG7_uc002fnl.2_Missense_Mutation_p.G81R	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	672	Mitochondrial matrix (Potential).				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		ACCTGGCATCGGGCCCATCTC	0.652													A	89620279	G	A	89620279	3	1	1	1	0	0	0	0	1	0	0	0	15043	1116	39	1	2222	1	SPG7	16	89620279	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	271501	89620279	734474	1160	1160											
FANCA	2175	broad.mit.edu	37	chr16	89849268	89849268	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agggctcaagcaacattaccTcagtaatgtccccagctgat	8	12	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:89849268T>G	uc002fou.1	-	17	1667	c.1625A>C	c.(1624-1626)GAG>GCG	p.E542A	FANCA_uc010vpn.1_Missense_Mutation_p.E542A	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	542					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CAACATTACCTCAGTAATGTC	0.463			D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				G	89849268	T	G	89849268	3	3	1	1	0	0	0	0	1	0	0	0	5662	1565	54	5	2850	5	FANCA	16	89849268	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	228989	89849268	505485	1161	1161											
SPIRE2	84501	broad.mit.edu	37	chr16	89921027	89921027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgctgatgcaggacatcCgggcccggaactacaagctg	13	11	0	2	rs142759329		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:89921027C>T	uc002foz.1	+	5	911	c.859C>T	c.(859-861)CGG>TGG	p.R287W	SPIRE2_uc010civ.1_Missense_Mutation_p.R202W|SPIRE2_uc010ciw.1_Missense_Mutation_p.R287W|SPIRE2_uc002fpa.1_Missense_Mutation_p.R239W|SPIRE2_uc010cix.1_Missense_Mutation_p.R156W	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	spire homolog 2	287	WH2 2.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)	1		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GCAGGACATCCGGGCCCGGAA	0.647													T	89921027	C	T	89921027	3	4	1	1	0	0	0	0	1	0	0	0	15071	643	23	1	877	1	SPIRE2	16	89921027	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	71759	89921027	433726	1162	1162											
DBNDD1	79007	broad.mit.edu	37	chr16	90075836	90075836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctcagcctccttaacgaTctctgcatccaaagacacag	5	16	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:90075836T>C	uc002fqf.1	-	2	222	c.34A>G	c.(34-36)ATC>GTC	p.I12V	DBNDD1_uc002fqe.1_Missense_Mutation_p.I32V|DBNDD1_uc002fqg.1_RNA	NM_001042610	NP_001036075	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1)	12						cytoplasm					0		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		TCCTTAACGATCTCTGCATCC	0.642													C	90075836	T	C	90075836	3	2	1	1	0	0	0	0	1	0	0	0	4253	1435	50	3	454	3	DBNDD1	16	90075836	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	154809	90075836	278917	1163	1163											
ZZEF1	23140	broad.mit.edu	37	chr17	3935533	3935533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattatccatataaacgcagCgggttcccacacagaggacc	8	13	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:3935533C>T	uc002fxe.2	-	42	6843	c.6779G>A	c.(6778-6780)CGC>CAC	p.R2260H	ZZEF1_uc002fxh.2_Missense_Mutation_p.R574H|ZZEF1_uc002fxi.2_Missense_Mutation_p.R495H	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2260							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						ATAAACGCAGCGGGTTCCCAC	0.458													T	3935533	C	T	3935533	3	4	1	1	0	0	0	0	1	0	0	0	18252	768	27	1	2162	1	ZZEF1	17	3935533	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08		3935533	77259677	1164	1164											
MYBBP1A	10514	broad.mit.edu	37	chr17	4446275	4446275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcctgtgtctcatgcacgCagccctcagcagtgttgccc	9	16	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:4446275C>T	uc002fyb.3	-	20	2887	c.2825G>A	c.(2824-2826)TGC>TAC	p.C942Y	MYBBP1A_uc002fxz.3_Missense_Mutation_p.C942Y|MYBBP1A_uc002fya.3_5'Flank|MYBBP1A_uc010vsa.1_5'UTR	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	942					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						CTCATGCACGCAGCCCTCAGC	0.672													T	4446275	C	T	4446275	3	4	1	1	0	0	0	0	1	0	0	0	10008	710	25	2	1229	2	MYBBP1A	17	4446275	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	510742	4446275	76748935	1165	1165											
CAMTA2	23125	broad.mit.edu	37	chr17	4880351	4880351	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcagagggctgggtactcAccgtccagtgacagccagtc	13	12	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:4880351A>G	uc002gah.1	-	11	2008	c.1900_splice	c.e11+1	p.D634_splice	CAMTA2_uc010cku.1_Splice_Site_p.D657_splice|CAMTA2_uc002gag.1_Splice_Site_p.D633_splice|CAMTA2_uc002gai.1_Splice_Site_p.D636_splice|CAMTA2_uc010ckv.1_Splice_Site_p.D281_splice	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2						cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						CTGGGTACTCACCGTCCAGTG	0.577													G	4880351	A	G	4880351	5	3	1	1	0	0	0	0	0	0	1	0	2614	173	6	3	1808	3	CAMTA2	17	4880351	Splice_Site	SNP	A	TCGA-B7-5816-01A-21D-1600-08	434076	4880351	76314859	1166	1166											
GPR172B	55065	broad.mit.edu	37	chr17	4936856	4936856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaggtggtaggccaggcGcccatagggcaaacaggaaa	15	10	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:4936856G>A	uc002gap.3	-	3	1641	c.928C>T	c.(928-930)CGC>TGC	p.R310C	GPR172B_uc002gao.3_Missense_Mutation_p.R310C|GPR172B_uc010ckw.2_Missense_Mutation_p.R188C|GPR172B_uc010ckx.2_Missense_Mutation_p.R310C	NM_001104577	NP_001098047	Q9NWF4	RFT_HUMAN	G protein-coupled receptor 172B precursor	310						integral to plasma membrane	receptor activity|riboflavin transporter activity				0						TAGGCCAGGCGCCCATAGGGC	0.642													A	4936856	G	A	4936856	3	1	1	1	0	0	0	0	1	0	0	0	6670	1087	38	1	430	1	GPR172B	17	4936856	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	56505	4936856	76258354	1167	1167											
TEKT1	83659	broad.mit.edu	37	chr17	6704118	6704118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcattagcctatattgtgCgacatcacgacacagctcca	6	13	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:6704118C>T	uc002gdt.2	-	7	1107	c.997G>A	c.(997-999)GCA>ACA	p.A333T	TEKT1_uc010vth.1_Missense_Mutation_p.A187T	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	tektin 1	333	Potential.				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|skin(1)	2		Myeloproliferative disorder(207;0.0255)				CTATATTGTGCGACATCACGA	0.517											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	6704118	C	T	6704118	3	4	1	1	0	0	0	0	1	0	0	0	15749	768	27	1	267	1	TEKT1	17	6704118	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1767262	6704118	74491092	1168	1168											
GPS2	2874	broad.mit.edu	37	chr17	7221879	7221879	+	Frame_Shift_Del	DEL	C	C	-													gggcacatctggcacagctaCcccctggtccaccccattaa							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:7221878_7221878AC>A	uc002gga.1	-	22	3807	c.3800_3800GT>T	c.(3799-3801)gtafs	p.V1267fs	GPS2_uc002gfx.1_5'Flank|GPS2_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_5'UTR|GPS2_uc002ggb.1_Frame_Shift_Del_p.V1265fs	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				TGGCACAGCTACCCCCTGGTC	0.642													-	7221879	C	-	7221879	7	5	1	1	0	1	0	1	0	0	0	0	6733	507	18	0		0	GPS2	17	7221879	Frame_Shift_Del	DEL	C	TCGA-B7-5816-01A-21D-1600-08	517761	7221879	73973331	1169	1169											
FGF11	2256	broad.mit.edu	37	chr17	7345947	7345947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtgtcgctttaaggagtGtgtctttgagaattactacg	12	5	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:7345947G>A	uc002ggz.2	+	4	694	c.443G>A	c.(442-444)TGT>TAT	p.C148Y	FGF11_uc010vtw.1_3'UTR|FGF11_uc010cmi.2_Missense_Mutation_p.C24Y|FGF11_uc010vtx.1_Missense_Mutation_p.C89Y|FGF11_uc002gha.3_Missense_Mutation_p.C24Y|CHRNB1_uc002ghb.2_5'Flank|CHRNB1_uc010vty.1_5'Flank	NM_004112	NP_004103	Q92914	FGF11_HUMAN	fibroblast growth factor 11	148					cell-cell signaling|nervous system development|signal transduction		growth factor activity				0		Prostate(122;0.157)				TTTAAGGAGTGTGTCTTTGAG	0.547													A	7345947	G	A	7345947	3	1	1	1	0	0	0	0	1	0	0	0	5840	1377	48	4	457	4	FGF11	17	7345947	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	124068	7345947	73849263	1170	1170											
EIF4A1	1973	broad.mit.edu	37	chr17	7480480	7480480	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaaagctcaacagcaacacCcaggtgagggcagtcttgct	10	12	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:7480480C>A	uc002gho.1	+	14	1946	c.621C>A	c.(619-621)ACC>ACA	p.T207T	EIF4A1_uc002ghr.1_Silent_p.T207T|EIF4A1_uc002ghq.1_Silent_p.T207T|EIF4A1_uc002ghp.1_Silent_p.T207T|SNORA67_uc010cml.1_5'Flank|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A	207	Helicase ATP-binding.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			ovary(1)	1						ACAGCAACACCCAGGTGAGGG	0.413													A	7480480	C	A	7480480	2	1	1	1	0	0	0	0	0	0	0	1	5024	610	22	5		5	EIF4A1	17	7480480	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	134533	7480480	73714730	1171	1171											
FXR2	9513	broad.mit.edu	37	chr17	7496382	7496382	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taccccggcccccagtcggcCgcctccggctttcttcccct	8	22	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:7496382C>A	uc002gia.1	-	13	1675	c.1448G>T	c.(1447-1449)CGG>CTG	p.R483L	SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	fragile X mental retardation syndrome related	483						cytosolic large ribosomal subunit	protein binding|RNA binding				0				READ - Rectum adenocarcinoma(115;0.17)		CCCAGTCGGCCGCCTCCGGCT	0.622													A	7496382	C	A	7496382	3	1	1	1	0	0	0	0	1	0	0	0	6116	652	23	5	493	5	FXR2	17	7496382	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	15902	7496382	73698828	1172	1172											
KDM6B	23135	broad.mit.edu	37	chr17	7755641	7755641	+	Frame_Shift_Del	DEL	G	G	-													aacaacattgcctggaacgtGgggcccctcaccggtgagag							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:7755640_7755640TG>T	uc002gix.3	+	8	3197	c.2360_2360TG>T	c.(2359-2361)gtgfs	p.V787fs	KDM6B_uc002giw.1_Frame_Shift_Del_p.V1485fs|TMEM88_uc002giy.3_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	1485	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GCCTGGAACGTGGGGCCCCTC	0.672											OREG0024145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	7755641	G	-	7755641	7	5	1	1	0	1	0	1	0	0	0	0	8138	1335	47	0	4517	0	KDM6B	17	7755641	Frame_Shift_Del	DEL	G	TCGA-B7-5816-01A-21D-1600-08	259259	7755641	73439569	1173	1173											
CNTROB	116840	broad.mit.edu	37	chr17	7852809	7852810	+	Frame_Shift_Ins	INS	-	-	G													ccgagtagcatgaggagccgINSggggggagtctggagatgag					rs35508310		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:7852808_7852809C>CG	uc002gjp.3	+	19	3708_3709	c.2758_2759C>CG	c.(2758-2760)cggfs	p.R920fs	CNTROB_uc002gjq.3_Frame_Shift_Ins_p.R898fs|CNTROB_uc002gjr.3_Frame_Shift_Ins_p.R801fs	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	898					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CATGAGGAGCCGGGGGGGAGTC	0.55													G	7852810	-	G	7852809	7	5	1	1	0	1	1	0	0	0	0	0	3651	1116	39	0	2833	0	CNTROB	17	7852809	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	97168	7852809	73342401	1174	1174											
ALOXE3	59344	broad.mit.edu	37	chr17	8012618	8012618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgaagtgggccaggcccGtgctcatgaggtagatgagg	18	7	1	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:8012618G>A	uc010cnr.2	-	12	1806	c.1436C>T	c.(1435-1437)ACG>ATG	p.T479M	ALOXE3_uc002gka.2_Missense_Mutation_p.T635M|ALOXE3_uc010vuo.1_Missense_Mutation_p.T611M	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3 isoform 2	479	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			skin(3)|lung(1)|central_nervous_system(1)	5						GGCCAGGCCCGTGCTCATGAG	0.652													A	8012618	G	A	8012618	3	1	1	1	0	0	0	0	1	0	0	0	542	1145	40	1	719	1	ALOXE3	17	8012618	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	159809	8012618	73182592	1175	1175											
MYH4	4622	broad.mit.edu	37	chr17	10367791	10367791	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgaatatcatgcccacctGcattttgccagaggcaggtt	10	10	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:10367791G>T	uc002gmn.2	-	7	757	c.646C>A	c.(646-648)CAG>AAG	p.Q216K	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	216	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						ATGCCCACCTGCATTTTGCCA	0.308													T	10367791	G	T	10367791	3	4	1	1	0	0	0	0	1	0	0	0	10037	1328	46	5	5309	5	MYH4	17	10367791	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2355173	10367791	70827419	1176	1176											
DNAH9	1770	broad.mit.edu	37	chr17	11593307	11593307	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcggcactggaggcagctgAtgcaggccaccggtgtgagc	17	11	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:11593307A>G	uc002gne.2	+	20	4236	c.4168A>G	c.(4168-4170)ATG>GTG	p.M1390V	DNAH9_uc010coo.2_Missense_Mutation_p.M684V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1390	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGGCAGCTGATGCAGGCCAC	0.622													G	11593307	A	G	11593307	3	3	1	1	0	0	0	0	1	0	0	0	4608	333	12	3	4246	3	DNAH9	17	11593307	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1225516	11593307	69601903	1177	1177											
DNAH9	1770	broad.mit.edu	37	chr17	11837319	11837321	+	In_Frame_Del	DEL	AGA	AGA	-													ttcattcgaccagaaatgttAgaaggagaactgtctttggc							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:11837318_11837320TAGA>T	uc002gne.3	+	64	12487_12489	c.12419_12421TAGA>T	c.(12418-12423)ttagaa>tTaa	p.E4141del	DNAH9_uc010coo.3_In_Frame_Del_p.E3359del|DNAH9_uc002gnf.3_In_Frame_Del_p.E453del	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4141					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCAGAAATGTTAGAAGGAGAACT	0.493													-	11837321	AGA	-	11837319	7	5	1	1	0	1	0	1	0	0	0	0	4608	417	15	0	12678	0	DNAH9	17	11837319	In_Frame_Del	DEL	AGA	TCGA-B7-5816-01A-21D-1600-08	244012	11837319	69357891	1178	1178											
TOM1L2	146691	broad.mit.edu	37	chr17	17766051	17766051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccccacatacgtcttgCgctgctcagccaaggagttt	12	13	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:17766051C>T	uc002grz.3	-	11	1353	c.1196G>A	c.(1195-1197)CGC>CAC	p.R399H	TOM1L2_uc002gry.3_Missense_Mutation_p.R349H|TOM1L2_uc010vwy.1_Missense_Mutation_p.R346H|TOM1L2_uc010cpr.2_Missense_Mutation_p.R354H|TOM1L2_uc010vwz.1_Missense_Mutation_p.R251H|TOM1L2_uc010vxa.1_Missense_Mutation_p.R301H|TOM1L2_uc002grv.3_Missense_Mutation_p.R132H	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 isoform 3	399					intracellular protein transport	intracellular					0	all_neural(463;0.228)					ATACGTCTTGCGCTGCTCAGC	0.527													T	17766051	C	T	17766051	3	4	1	1	0	0	0	0	1	0	0	0	16350	768	27	1	347	1	TOM1L2	17	17766051	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	5928732	17766051	63429159	1179	1179											
TRIM16L	147166	broad.mit.edu	37	chr17	18630984	18630984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaacggtatcaaggcccaCctggagtacaggagtgccga	13	12	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:18630984C>T	uc002gug.1	+	7	801	c.114C>T	c.(112-114)CAC>CAT	p.H38H	TRIM16L_uc010vyf.1_Silent_p.H92H|TRIM16L_uc002guh.1_Silent_p.H38H|TRIM16L_uc010cqg.1_Silent_p.H140H|TRIM16L_uc002gui.1_Silent_p.H38H|TRIM16L_uc010vyg.1_Silent_p.H38H|TRIM16L_uc010vyh.1_Silent_p.H38H	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN	tripartite motif-containing 16-like	38						cytoplasm					0						TCAAGGCCCACCTGGAGTACA	0.567													T	18630984	C	T	18630984	2	4	1	1	0	0	0	0	0	0	0	1	16489	506	18	4		4	TRIM16L	17	18630984	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	864933	18630984	62564226	1180	1180											
SLC47A1	55244	broad.mit.edu	37	chr17	19480786	19480786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaaacagctggtgctgCggcgagggcttctgctcctg	15	12	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:19480786C>T	uc002gvy.1	+	17	1719	c.1633C>T	c.(1633-1635)CGG>TGG	p.R545W	SLC47A1_uc002gvx.2_Missense_Mutation_p.R545W|SLC47A1_uc010vyz.1_3'UTR|SLC47A1_uc010cqp.1_Missense_Mutation_p.R243W|SLC47A1_uc010cqq.1_Missense_Mutation_p.R291W|SLC47A1_uc010vza.1_Missense_Mutation_p.R257W|SLC47A1_uc010vzb.1_Missense_Mutation_p.R220W|SLC47A1_uc010vzc.1_Missense_Mutation_p.R217W	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	solute carrier family 47, member 1	545	Cytoplasmic (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					GCTGGTGCTGCGGCGAGGGCT	0.522													T	19480786	C	T	19480786	3	4	1	1	0	0	0	0	1	0	0	0	14647	759	27	1	1699	1	SLC47A1	17	19480786	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	849802	19480786	61714424	1181	1181											
ALDH3A2	224	broad.mit.edu	37	chr17	19568270	19568270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtcctcagctcatcaaaCggatgattgatgagacatcc	8	11	4	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:19568270C>T	uc002gwb.1	+	8	1338	c.1117C>T	c.(1117-1119)CGG>TGG	p.R373W	ALDH3A2_uc002gwa.1_Missense_Mutation_p.R373W|ALDH3A2_uc010cqr.1_Missense_Mutation_p.R180W|ALDH3A2_uc002gwc.1_Missense_Mutation_p.R373W|ALDH3A2_uc002gwd.1_Missense_Mutation_p.R180W	NM_000382	NP_000373	P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3A2 isoform 2	373	Cytoplasmic.				cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(2)	2	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	GCTCATCAAACGGATGATTGA	0.512													T	19568270	C	T	19568270	3	4	1	1	0	0	0	0	1	0	0	0	498	527	19	1	1147	1	ALDH3A2	17	19568270	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	87484	19568270	61626940	1182	1182											
USP22	23326	broad.mit.edu	37	chr17	20921375	20921375	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtgggtcagggcctgcacGatgcagttcatgaagcatgt	15	8	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:20921375G>A	uc002gym.3	-	5	774	c.570C>T	c.(568-570)ATC>ATT	p.I190I	USP22_uc002gyn.3_Silent_p.I178I|USP22_uc002gyl.3_Silent_p.I85I	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	ubiquitin thiolesterase 22	190					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1						GGGCCTGCACGATGCAGTTCA	0.572													A	20921375	G	A	20921375	2	1	1	1	0	0	0	0	0	0	0	1	17051	1048	37	1		1	USP22	17	20921375	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1353105	20921375	60273835	1183	1183											
USP22	23326	broad.mit.edu	37	chr17	20921424	20921424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgatcagcccacgcagaCctggacacaaatcaccagag	10	13	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:20921424C>T	uc002gym.3	-	5	725	c.521G>A	c.(520-522)GGT>GAT	p.G174D	USP22_uc002gyn.3_Missense_Mutation_p.G162D|USP22_uc002gyl.3_Missense_Mutation_p.G69D	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	ubiquitin thiolesterase 22	174					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1						CCCACGCAGACCTGGACACAA	0.542													T	20921424	C	T	20921424	3	4	1	1	0	0	0	0	1	0	0	0	17051	521	18	4	1092	4	USP22	17	20921424	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	49	20921424	60273786	1184	1184											
VTN	7448	broad.mit.edu	37	chr17	26694878	26694878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtggcgcgggatggccgGcgggagttctggttgcggcc	20	11	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:26694878G>A	uc002hbc.2	-	7	1331	c.1182C>T	c.(1180-1182)CGC>CGT	p.R394R	SARM1_uc010wah.1_Intron|SEBOX_uc010wai.1_5'Flank|SEBOX_uc010crk.1_5'UTR|SARM1_uc010waj.1_Intron	NM_000638	NP_000629	P04004	VTNC_HUMAN	vitronectin precursor	394	Heparin-binding.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			ovary(1)|kidney(1)	2	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	GGGATGGCCGGCGGGAGTTCT	0.597													A	26694878	G	A	26694878	2	1	1	1	0	0	0	0	0	0	0	1	17234	1190	42	2		2	VTN	17	26694878	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	5773454	26694878	54500332	1185	1185											
SPAG5	10615	broad.mit.edu	37	chr17	26912386	26912386	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggtagaagtaagactcActgtctgctgaaccagctct	10	10	3	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:26912386A>G	uc002hbq.2	-	9	1996	c.1904T>C	c.(1903-1905)GTG>GCG	p.V635A	SGK494_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	635	Gln-rich.				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			central_nervous_system(1)	1	Lung NSC(42;0.00431)					AGTAAGACTCACTGTCTGCTG	0.468													G	26912386	A	G	26912386	3	3	1	1	0	0	0	0	1	0	0	0	14981	159	6	3	1741	3	SPAG5	17	26912386	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	217508	26912386	54282824	1186	1186											
C17orf63	55731	broad.mit.edu	37	chr17	27086766	27086766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacgacgaacgtgtttccGctggggaaccttcacactgt	11	11	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:27086766G>A	uc002hct.1	-	3	478	c.211C>T	c.(211-213)CGG>TGG	p.R71W	C17orf63_uc010wax.1_Missense_Mutation_p.R71W|C17orf63_uc010way.1_Missense_Mutation_p.R71W|C17orf63_uc002hcw.2_5'UTR	NM_018182	NP_060652	Q8WU58	CQ063_HUMAN	hypothetical protein LOC55731	71										ovary(1)	1	all_epithelial(6;5.06e-20)|Lung NSC(42;0.01)		Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104)			ACGTGTTTCCGCTGGGGAACC	0.552													A	27086766	G	A	27086766	3	1	1	1	0	0	0	0	1	0	0	0	1871	1086	38	1		1	C17orf63	17	27086766	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	174380	27086766	54108444	1187	1187											
CRYBA1	1411	broad.mit.edu	37	chr17	27581284	27581286	+	In_Frame_Del	DEL	GGA	GGA	-													tcttggaatgtgaccatcatGgaggagactataaacattgg							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:27581283_27581285TGGA>T	uc002hdw.3	+	5	571_573	c.564_566TGGA>T	c.(562-567)catgga>caTa	p.G190del		NM_005208	NP_005199	P05813	CRBA1_HUMAN	Homo sapiens crystallin, beta A1 (CRYBA1), mRNA.	190	Beta/gamma crystallin 'Greek key' 4.				visual perception	soluble fraction	structural constituent of eye lens			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GTGACCATCATGGAGGAGACTAT	0.419													-	27581286	GGA	-	27581284	7	5	1	1	0	1	0	1	0	0	0	0	3907	1349	47	0	587	0	CRYBA1	17	27581284	In_Frame_Del	DEL	GGA	TCGA-B7-5816-01A-21D-1600-08	494518	27581284	53613926	1188	1188											
TMEM132E	124842	broad.mit.edu	37	chr17	32964233	32964233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctctcctacagtgatgGcaccacagccccactctccc	7	19	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:32964233G>A	uc002hif.2	+	10	2265	c.1937G>A	c.(1936-1938)GGC>GAC	p.G646D		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	646	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		TACAGTGATGGCACCACAGCC	0.562													A	32964233	G	A	32964233	3	1	1	1	0	0	0	0	1	0	0	0	16045	1203	42	2	1975	2	TMEM132E	17	32964233	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	5382949	32964233	48230977	1189	1189											
CCT6B	10693	broad.mit.edu	37	chr17	33266337	33266337	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acactcctcaataaaagtgaActtttcttcaccctaaaggg	5	11	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:33266337A>G	uc002hig.2	-	10	1172	c.1078T>C	c.(1078-1080)TTC>CTC	p.F360L	CCT6B_uc010ctg.2_Missense_Mutation_p.F323L|CCT6B_uc010wcc.1_Missense_Mutation_p.F315L	NM_006584	NP_006575	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B	360					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			pancreas(1)	1		Ovarian(249;0.17)				ATAAAAGTGAACTTTTCTTCA	0.323													G	33266337	A	G	33266337	3	3	1	1	0	0	0	0	1	0	0	0	2958	43	2	3	534	3	CCT6B	17	33266337	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	302104	33266337	47928873	1190	1190											
LIG3	3980	broad.mit.edu	37	chr17	33325729	33325729	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtccttggagccttctAtgggcaagggagcaaaggtc	16	8	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:33325729A>G	uc002hik.1	+	14	2204	c.2096A>G	c.(2095-2097)TAT>TGT	p.Y699C	LIG3_uc002hij.2_Missense_Mutation_p.Y699C	NM_013975	NP_039269	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent isoform alpha	699					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9		Ovarian(249;0.17)			Bleomycin(DB00290)	GGAGCCTTCTATGGGCAAGGG	0.567								Other_BER_factors			OREG0024326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	33325729	A	G	33325729	3	3	1	1	0	0	0	0	1	0	0	0	8782	449	16	3	2146	3	LIG3	17	33325729	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	59392	33325729	47869481	1191	1191											
SLFN11	91607	broad.mit.edu	37	chr17	33679963	33679963	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgcaatccaagtggctggtCtgaaagtaatccagaaagat	10	8	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:33679963C>A	uc010ctp.2	-	7	2560	c.2118G>T	c.(2116-2118)CAG>CAT	p.Q706H	SLFN11_uc010ctq.2_Missense_Mutation_p.Q706H|SLFN11_uc002hjh.3_Missense_Mutation_p.Q706H|SLFN11_uc002hjg.3_Missense_Mutation_p.Q706H|SLFN11_uc010ctr.2_Missense_Mutation_p.Q706H	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	706						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTGGCTGGTCTGAAAGTAAT	0.498													A	33679963	C	A	33679963	3	1	1	1	0	0	0	0	1	0	0	0	14733	912	32	5	591	5	SLFN11	17	33679963	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	354234	33679963	47515247	1192	1192											
SLFN12	55106	broad.mit.edu	37	chr17	33749493	33749494	+	Frame_Shift_Ins	INS	-	-	A													gatcaagttctgttctatcaINSaaaaaaaccccggccaaggc							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:33749492_33749493C>CA	uc002hji.4	-	1	932_933	c.555_556G>TG	c.(553-558)tttgatfs	p.F185fs	SLFN12_uc002hjj.4_Frame_Shift_Ins_p.F185fs|SLFN12_uc010cts.3_Frame_Shift_Ins_p.F185fs	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	185							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTGTTCTATCAAAAAAAACCC	0.366													A	33749494	-	A	33749493	7	5	1	1	0	1	1	0	0	0	0	0	14734	127	5	0	1193	0	SLFN12	17	33749493	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	69530	33749493	47445717	1193	1193											
AP2B1	163	broad.mit.edu	37	chr17	33935348	33935348	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatatcaatgcccaaatggTggaagatcagggatttctgg	12	6	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:33935348T>C	uc002hjr.2	+	5	656	c.467T>C	c.(466-468)GTG>GCG	p.V156A	AP2B1_uc002hjq.2_Missense_Mutation_p.V156A|AP2B1_uc010wci.1_Missense_Mutation_p.V118A|AP2B1_uc002hjs.2_Missense_Mutation_p.V99A|AP2B1_uc002hjt.2_Missense_Mutation_p.V156A|AP2B1_uc010ctv.2_Missense_Mutation_p.V156A	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	156					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GCCCAAATGGTGGAAGATCAG	0.438													C	33935348	T	C	33935348	3	2	1	1	0	0	0	0	1	0	0	0	741	1696	59	3	481	3	AP2B1	17	33935348	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	185855	33935348	47259862	1194	1194											
GGNBP2	79893	broad.mit.edu	37	chr17	34934525	34934525	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactttatgaaggcttgcggTgctgtccacatgaacgacac	10	11	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:34934525T>C	uc002hnb.2	+	7	1003	c.754T>C	c.(754-756)TGC>CGC	p.C252R	GGNBP2_uc002hna.2_Missense_Mutation_p.C252R|GGNBP2_uc002hnc.1_Missense_Mutation_p.C81R	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	252					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGGCTTGCGGTGCTGTCCACA	0.453													C	34934525	T	C	34934525	3	2	1	1	0	0	0	0	1	0	0	0	6359	1696	59	3	776	3	GGNBP2	17	34934525	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	999177	34934525	46260685	1195	1195											
HNF1B	6928	broad.mit.edu	37	chr17	36065026	36065026	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatattcgtcaaggtgctgaCtgggggcaaacctcctcctg	12	11	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:36065026C>A	uc002hok.3	-	6	1458	c.1237G>T	c.(1237-1239)GTC>TTC	p.V413F	HNF1B_uc010wdi.1_Missense_Mutation_p.V387F	NM_000458	NP_000449	P35680	HNF1B_HUMAN	hepatocyte nuclear factor 1-beta isoform 1	413					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			AAGGTGCTGACTGGGGGCAAA	0.493									Hereditary_Prostate_Cancer				A	36065026	C	A	36065026	3	1	1	1	0	0	0	0	1	0	0	0	7252	565	20	5	452	5	HNF1B	17	36065026	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1130501	36065026	45130184	1196	1196											
RPL19	6143	broad.mit.edu	37	chr17	37359334	37359334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggctgctcagaagatacCgtgaatctaagaagatcgat	11	9	2	5			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:37359334C>T	uc002hrq.1	+	4	390	c.328C>T	c.(328-330)CGT>TGT	p.R110C	RPL19_uc002hrr.1_Missense_Mutation_p.R108C	NM_000981	NP_000972	P84098	RL19_HUMAN	ribosomal protein L19	110					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0						CAGAAGATACCGTGAATCTAA	0.498													T	37359334	C	T	37359334	3	4	1	1	0	0	0	0	1	0	0	0	13566	652	23	1	342	1	RPL19	17	37359334	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1294308	37359334	43835876	1197	1197											
MED1	5469	broad.mit.edu	37	chr17	37571384	37571384	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgcacatccattaccActgaaagacaaaatacatag	5	11	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:37571384A>G	uc002hrv.3	-	16	1606	c.1394T>C	c.(1393-1395)GTG>GCG	p.V465A	MED1_uc010wee.1_Missense_Mutation_p.V293A|MED1_uc002hru.2_Missense_Mutation_p.V465A	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	465	Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ATCCATTACCACTGAAAGACA	0.423										HNSCC(31;0.082)			G	37571384	A	G	37571384	3	3	1	1	0	0	0	0	1	0	0	0	9425	173	6	3	3359	3	MED1	17	37571384	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	212050	37571384	43623826	1198	1198											
CDK12	51755	broad.mit.edu	37	chr17	37682159	37682159	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgaatcaaagtgaattggCagtgttattaaacctgctgc	10	7	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:37682159C>A	uc010cvv.2	+	13	3936	c.3350C>A	c.(3349-3351)GCA>GAA	p.A1117E	CDK12_uc010wef.1_Missense_Mutation_p.A1116E|CDK12_uc002hrw.3_Missense_Mutation_p.A1117E	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	1117					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						AGTGAATTGGCAGTGTTATTA	0.498										TCGA Ovarian(9;0.13)			A	37682159	C	A	37682159	3	1	1	1	0	0	0	0	1	0	0	0	3128	710	25	5	3400	5	CDK12	17	37682159	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	110775	37682159	43513051	1199	1199											
KRT16	3868	broad.mit.edu	37	chr17	39767703	39767703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccaacacccggcgcaggCcattgacgtcggcctccaca	9	18	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:39767703C>T	uc002hxg.3	-	3	804	c.665G>A	c.(664-666)GGC>GAC	p.G222D	JUP_uc010wfs.1_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	222	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			skin(1)	1		Breast(137;0.000307)				CCGGCGCAGGCCATTGACGTC	0.617													T	39767703	C	T	39767703	3	4	1	1	0	0	0	0	1	0	0	0	8453	739	26	2	780	2	KRT16	17	39767703	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2085544	39767703	41427507	1200	1200											
ATP6V0A1	535	broad.mit.edu	37	chr17	40665982	40665982	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgcggctctgggccctcaGcctcgctcatgcgcgtgagt	13	15	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:40665982G>T	uc002hzr.2	+	20	2401	c.2234G>T	c.(2233-2235)AGC>ATC	p.S745I	ATP6V0A1_uc002hzq.2_Missense_Mutation_p.S739I|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.S746I|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.S702I|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.S696I|ATP6V0A1_uc010cyg.2_Missense_Mutation_p.S391I|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.S604I|ATP6V0A1_uc002hzt.2_Missense_Mutation_p.S29I	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	745	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TGGGCCCTCAGCCTCGCTCAT	0.597													T	40665982	G	T	40665982	3	4	1	1	0	0	0	0	1	0	0	0	1168	971	34	5	2329	5	ATP6V0A1	17	40665982	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	898279	40665982	40529228	1201	1201											
GRN	2896	broad.mit.edu	37	chr17	42430091	42430091	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccgctgcgcagccaggggTaccaagtgtttgcgcaggga	15	11	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:42430091T>C	uc002igp.1	+	13	1926	c.1707T>C	c.(1705-1707)GGT>GGC	p.G569G	GRN_uc002igr.1_3'UTR	NM_002087	NP_002078	P28799	GRN_HUMAN	granulin precursor	569					signal transduction	extracellular space	cytokine activity|growth factor activity			ovary(2)|central_nervous_system(2)|skin(1)	5		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CAGCCAGGGGTACCAAGTGTT	0.652													C	42430091	T	C	42430091	2	2	1	1	0	0	0	0	0	0	0	1	6804	1625	57	3		3	GRN	17	42430091	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1764109	42430091	38765119	1202	1202											
GPATCH8	23131	broad.mit.edu	37	chr17	42501806	42501806	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacagttcacaataaaagtTggctctgaggtcttccaagg	9	9	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:42501806T>C	uc002igw.1	-	6	467	c.403A>G	c.(403-405)AAC>GAC	p.N135D	GPATCH8_uc002igv.1_Missense_Mutation_p.N57D|GPATCH8_uc010wiz.1_Missense_Mutation_p.N57D	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	135						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CAATAAAAGTTGGCTCTGAGG	0.373													C	42501806	T	C	42501806	3	2	1	1	0	0	0	0	1	0	0	0	6594	1812	63	3	4117	3	GPATCH8	17	42501806	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	71715	42501806	38693404	1203	1203											
FMNL1	752	broad.mit.edu	37	chr17	43317920	43317920	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatttttgatgtgggggcGctgctggaggacacagagac	15	6	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:43317920G>A	uc002iin.2	+	12	1358	c.1158G>A	c.(1156-1158)GCG>GCA	p.A386A	FMNL1_uc002iiq.2_5'Flank|FMNL1_uc010dag.2_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	386	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						ATGTGGGGGCGCTGCTGGAGG	0.597													A	43317920	G	A	43317920	2	1	1	1	0	0	0	0	0	0	0	1	5951	1074	38	1		1	FMNL1	17	43317920	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	816114	43317920	37877290	1204	1204											
CRHR1	1394	broad.mit.edu	37	chr17	43912119	43912119	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagcatcaagcagtccAcagcagtctgagctggcagg	11	12	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:43912119A>G	uc010dap.2	+	14	1589	c.1324A>G	c.(1324-1326)ACA>GCA	p.T442A	CRHR1_uc010wjx.1_Missense_Mutation_p.T238A|CRHR1_uc002ijp.2_Silent_p.P266P|CRHR1_uc002ijm.2_Missense_Mutation_p.T413A|CRHR1_uc002ijn.2_Missense_Mutation_p.T373A|CRHR1_uc010dar.2_Missense_Mutation_p.T399A|CRHR1_uc010dao.2_Missense_Mutation_p.T312A|CRHR1_uc010daq.2_Missense_Mutation_p.T238A	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	442	Cytoplasmic (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(3)	3	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CAAGCAGTCCACAGCAGTCTG	0.647													G	43912119	A	G	43912119	3	3	1	1	0	0	0	0	1	0	0	0	3871	159	6	3	1378	3	CRHR1	17	43912119	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	594199	43912119	37283091	1205	1205											
TTLL6	284076	broad.mit.edu	37	chr17	46863659	46863659	+	Frame_Shift_Del	DEL	T	T	-													tcttcttcatttggaagggcTttttctcccgttttagtctc							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:46863658_46863658CT>C	uc021tzm.1	-	11	1664	c.1629_1629AG>G	c.(1627-1629)aagfs	p.K543fs	TTLL6_uc002iob.3_Frame_Shift_Del_p.K236fs|TTLL6_uc010dbi.3_Non-coding_Transcript|TTLL6_uc002ioc.3_Frame_Shift_Del_p.K296fs|TTLL6_uc002iod.3_Frame_Shift_Del_p.K390fs	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	495						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TTTGGAAGGGCTTTTTCTCCC	0.517													-	46863659	T	-	46863659	7	5	1	1	0	1	0	1	0	0	0	0	16728	1609	56	0	1063	0	TTLL6	17	46863659	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	2951540	46863659	34331551	1206	1206											
SGCA	6442	broad.mit.edu	37	chr17	48246568	48246568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccacttctgtcttgctacGacaccttggcaccccacttc	5	18	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:48246568G>A	uc002iqi.2	+	6	736	c.700G>A	c.(700-702)GAC>AAC	p.D234N	SGCA_uc010wmh.1_Missense_Mutation_p.D132N|SGCA_uc002iqj.2_Intron|SGCA_uc010wmi.1_RNA|uc010dbn.1_5'Flank	NM_000023	NP_000014	Q16586	SGCA_HUMAN	sarcoglycan, alpha isoform 1 precursor	234	Extracellular (Potential).				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(2)	2						GTCTTGCTACGACACCTTGGC	0.642											OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	48246568	G	A	48246568	3	1	1	1	0	0	0	0	1	0	0	0	14199	1058	37	1	722	1	SGCA	17	48246568	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1382909	48246568	32948642	1207	1207											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602													-	48433967	C	-	48433967	7	5	1	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-B7-5816-01A-21D-1600-08	187399	48433967	32761243	1208	1208											
EME1	146956	broad.mit.edu	37	chr17	48452823	48452823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtcaggttgctaagcaGtgaaagtgaagatgaagaag	14	5	1	5			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:48452823G>A	uc002iqs.1	+	2	327	c.254G>A	c.(253-255)AGT>AAT	p.S85N	MRPL27_uc002iqq.2_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.1_Missense_Mutation_p.S85N	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	essential meiotic endonuclease 1 homolog 1	85					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding				0	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TTGCTAAGCAGTGAAAGTGAA	0.473								Direct_reversal_of_damage|Homologous_recombination					A	48452823	G	A	48452823	3	1	1	1	0	0	0	0	1	0	0	0	5088	1029	36	4	256	4	EME1	17	48452823	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	18856	48452823	32742387	1209	1209											
LRRC59	55379	broad.mit.edu	37	chr17	48470164	48470164	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaggagatccaggtgctggAggttgaccagacggccaaag	16	8	0	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:48470164A>T	uc002iqt.2	-	3	414	c.260T>A	c.(259-261)CTC>CAC	p.L87H		NM_018509	NP_060979	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	87	LRR 4.|Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			central_nervous_system(1)	1	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CAGGTGCTGGAGGTTGACCAG	0.527													T	48470164	A	T	48470164	3	4	1	1	0	0	0	0	1	0	0	0	9015	304	11	5	683	5	LRRC59	17	48470164	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	17341	48470164	32725046	1210	1210											
CACNA1G	8913	broad.mit.edu	37	chr17	48650021	48650021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgcggtcctgcagaagcGtgcccacgctgcgcggggac	16	14	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:48650021G>A	uc002irk.1	+	6	1225	c.853G>A	c.(853-855)GTG>ATG	p.V285M	CACNA1G_uc002iri.1_Missense_Mutation_p.V285M|CACNA1G_uc002irj.1_Missense_Mutation_p.V285M|CACNA1G_uc002irl.1_Missense_Mutation_p.V285M|CACNA1G_uc002irm.1_Missense_Mutation_p.V285M|CACNA1G_uc002irn.1_Missense_Mutation_p.V285M|CACNA1G_uc002iro.1_Missense_Mutation_p.V285M|CACNA1G_uc002irp.1_Missense_Mutation_p.V285M|CACNA1G_uc002irq.1_Missense_Mutation_p.V285M|CACNA1G_uc002irr.1_Missense_Mutation_p.V285M|CACNA1G_uc002irs.1_Missense_Mutation_p.V285M|CACNA1G_uc002irt.1_Missense_Mutation_p.V285M|CACNA1G_uc002irv.1_Missense_Mutation_p.V285M|CACNA1G_uc002irw.1_Missense_Mutation_p.V285M|CACNA1G_uc002iru.1_Missense_Mutation_p.V285M|CACNA1G_uc002irx.1_Missense_Mutation_p.V198M|CACNA1G_uc002iry.1_Missense_Mutation_p.V198M|CACNA1G_uc002irz.1_Missense_Mutation_p.V198M|CACNA1G_uc002isa.1_Missense_Mutation_p.V198M|CACNA1G_uc002isb.1_Missense_Mutation_p.V198M|CACNA1G_uc002isc.1_Missense_Mutation_p.V198M|CACNA1G_uc002isd.1_Missense_Mutation_p.V198M|CACNA1G_uc002ise.1_Missense_Mutation_p.V198M|CACNA1G_uc002isf.1_Missense_Mutation_p.V198M|CACNA1G_uc002isg.1_Missense_Mutation_p.V198M|CACNA1G_uc002ish.1_Missense_Mutation_p.V198M|CACNA1G_uc002isi.1_Missense_Mutation_p.V198M	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	285	Extracellular (Potential).|I.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGCAGAAGCGTGCCCACGCT	0.632													A	48650021	G	A	48650021	3	1	1	1	0	0	0	0	1	0	0	0	2544	1145	40	1	875	1	CACNA1G	17	48650021	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	179857	48650021	32545189	1211	1211											
ABCC3	8714	broad.mit.edu	37	chr17	48736701	48736701	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcagctgctggaggcaTggaggaagcaggaaaagcag	17	7	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:48736701T>C	uc002isl.2	+	7	858	c.778T>C	c.(778-780)TGG>CGG	p.W260R	ABCC3_uc002isk.3_Missense_Mutation_p.W260R	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	260	Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GCTGGAGGCATGGAGGAAGCA	0.617													C	48736701	T	C	48736701	3	2	1	1	0	0	0	0	1	0	0	0	54	1464	51	3	804	3	ABCC3	17	48736701	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	86680	48736701	32458509	1212	1212											
KIF2B	84643	broad.mit.edu	37	chr17	51901904	51901904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaactcacactggtgctcCgggactcctttataggccag	10	13	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:51901904C>T	uc002iua.2	+	1	1666	c.1510C>T	c.(1510-1512)CGG>TGG	p.R504W	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	504					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						ACTGGTGCTCCGGGACTCCTT	0.478													T	51901904	C	T	51901904	3	4	1	1	0	0	0	0	1	0	0	0	8298	643	23	1	1512	1	KIF2B	17	51901904	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3165203	51901904	29293306	1213	1213											
CUEDC1	404093	broad.mit.edu	37	chr17	55962691	55962691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagctggtcgatggtggCgtccacagcgccgctgttgg	16	12	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:55962691C>T	uc002ivd.1	-	2	954	c.235G>A	c.(235-237)GCC>ACC	p.A79T	CUEDC1_uc002ive.1_Missense_Mutation_p.A79T	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	CUE domain-containing 1	79	CUE.									skin(2)	2						TCGATGGTGGCGTCCACAGCG	0.622													T	55962691	C	T	55962691	3	4	1	1	0	0	0	0	1	0	0	0	4052	768	27	1	961	1	CUEDC1	17	55962691	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	4060787	55962691	25232519	1214	1214											
MPO	4353	broad.mit.edu	37	chr17	56350262	56350262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggccatgaggccccggaGgatggggtcaatgccacctg	17	11	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:56350262G>A	uc002ivu.1	-	10	1816	c.1639C>T	c.(1639-1641)CTC>TTC	p.L547F		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	547					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)	AGGCCCCGGAGGATGGGGTCA	0.567													A	56350262	G	A	56350262	3	1	1	1	0	0	0	0	1	0	0	0	9732	1000	35	4	610	4	MPO	17	56350262	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	387571	56350262	24844948	1215	1215											
MPO	4353	broad.mit.edu	37	chr17	56352929	56352929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggcccccacgatcttccGggcttcctggtagagcctct	10	16	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:56352929G>A	uc002ivu.1	-	8	1516	c.1339C>T	c.(1339-1341)CGG>TGG	p.R447W		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	447			R -> Q (in a colorectal cancer sample; somatic mutation).		anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	p.R447Q(1)		ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)	ACGATCTTCCGGGCTTCCTGG	0.443													A	56352929	G	A	56352929	3	1	1	1	0	0	0	0	1	0	0	0	9732	1115	39	1	918	1	MPO	17	56352929	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2667	56352929	24842281	1216	1216											
BZRAP1	9256	broad.mit.edu	37	chr17	56393891	56393891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctcctctacctcactgGctgtgtccacctgggggcaa	10	16	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:56393891G>A	uc002ivx.3	-	15	2754	c.1883C>T	c.(1882-1884)GCC>GTC	p.A628V	BZRAP1_uc010dcs.2_Missense_Mutation_p.A568V|BZRAP1_uc010wnt.1_Missense_Mutation_p.A628V	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	628						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TACCTCACTGGCTGTGTCCAC	0.632													A	56393891	G	A	56393891	3	1	1	1	0	0	0	0	1	0	0	0	1577	1203	42	2	3758	2	BZRAP1	17	56393891	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	40962	56393891	24801319	1217	1217											
TRIM37	4591	broad.mit.edu	37	chr17	57126583	57126583	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcctcatcttcttcatcctCtttggcctctcttacagaag	4	15	6	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:57126583C>A	uc002iwy.3	-	15	1930	c.1486G>T	c.(1486-1488)GAG>TAG	p.E496*	TRIM37_uc002iwz.3_Nonsense_Mutation_p.E496*|TRIM37_uc002ixa.3_Nonsense_Mutation_p.E374*|TRIM37_uc010woc.1_Nonsense_Mutation_p.E462*	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	496						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCTTCATCCTCTTTGGCCTCT	0.393									Mulibrey_Nanism				A	57126583	C	A	57126583	4	1	1	1	0	0	0	0	0	1	0	0	16508	922	32	5	1456	5	TRIM37	17	57126583	Nonsense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	732692	57126583	24068627	1218	1218											
TRIM37	4591	broad.mit.edu	37	chr17	57158518	57158518	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaagtttggctacctcttcAttcactttagtgacgtgttg	9	9	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:57158518A>G	uc002iwy.3	-	6	876	c.432T>C	c.(430-432)AAT>AAC	p.N144N	TRIM37_uc002iwz.3_Silent_p.N144N|TRIM37_uc002ixa.3_Silent_p.N22N|TRIM37_uc010woc.1_Silent_p.N110N	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	144	Potential.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTACCTCTTCATTCACTTTAG	0.343									Mulibrey_Nanism				G	57158518	A	G	57158518	2	3	1	1	0	0	0	0	0	0	0	1	16508	214	8	3		3	TRIM37	17	57158518	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	31935	57158518	24036692	1219	1219											
PRR11	55771	broad.mit.edu	37	chr17	57247159	57247159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaagctaaaagccaaagccGaaagattattcaaaaaaaaa	6	6	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:57247159G>A	uc002ixf.1	+	2	125	c.46G>A	c.(46-48)GAA>AAA	p.E16K	PRR11_uc002ixg.1_RNA	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	proline rich 11	16										ovary(2)	2	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGCCAAAGCCGAAAGATTATT	0.338													A	57247159	G	A	57247159	3	1	1	1	0	0	0	0	1	0	0	0	12583	1059	37	1	48	1	PRR11	17	57247159	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	88641	57247159	23948051	1220	1220											
KCNH6	81033	broad.mit.edu	37	chr17	61622451	61622451	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggcaggctggagtcccgCgtgtcctcagacctcagccg	13	15	3	1	rs140681295		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:61622451C>T	uc002jay.2	+	13	2597	c.2517C>T	c.(2515-2517)CGC>CGT	p.R839R	KCNH6_uc010wpl.1_Silent_p.R680R|KCNH6_uc010wpm.1_Silent_p.R803R|KCNH6_uc002jaz.1_Silent_p.R750R	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	839	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	TGGAGTCCCGCGTGTCCTCAG	0.612													T	61622451	C	T	61622451	2	4	1	1	0	0	0	0	0	0	0	1	8036	755	27	1		1	KCNH6	17	61622451	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	4375292	61622451	19572759	1221	1221											
CSH2	1443	broad.mit.edu	37	chr17	61949631	61949631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagtttgtgtcaaacttgCtgtaggtctgcttgaggatc	13	6	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:61949631C>T	uc002jch.2	-	5	624	c.509G>A	c.(508-510)AGC>AAC	p.S170N	CSH2_uc002jcg.2_Missense_Mutation_p.S75N|CSH2_uc002jci.2_3'UTR|GH2_uc002jcj.2_Missense_Mutation_p.A169T|CSH2_uc002jck.2_Missense_Mutation_p.S170N	NM_020991	NP_066271	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2 isoform 1	170					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding				0						GTCAAACTTGCTGTAGGTCTG	0.547													T	61949631	C	T	61949631	3	4	1	1	0	0	0	0	1	0	0	0	3941	797	28	2	148	2	CSH2	17	61949631	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	327180	61949631	19245579	1222	1222											
SCN4A	6329	broad.mit.edu	37	chr17	62018729	62018729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgaagtctgagaggcggCtgtaggcgatgaactgggtg	17	8	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:62018729C>T	uc002jds.1	-	24	4990	c.4913G>A	c.(4912-4914)AGC>AAC	p.S1638N		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1638					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	TGAGAGGCGGCTGTAGGCGAT	0.572													T	62018729	C	T	62018729	3	4	1	1	0	0	0	0	1	0	0	0	13920	797	28	2	601	2	SCN4A	17	62018729	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	69098	62018729	19176481	1223	1223											
ABCA9	10350	broad.mit.edu	37	chr17	67031442	67031443	+	Frame_Shift_Ins	INS	-	-	A													aagacacaaagtccattccaINSaaaatgcaggaagacgtgta							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:67031441_67031442C>CA	uc002jhu.3	-	7	1216_1217	c.1073_1074G>TG	c.(1072-1074)ttgfs	p.L358fs	ABCA9_uc010dez.3_Frame_Shift_Ins_p.L358fs	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	358					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAGTCCATTCCAAAAATGCAGG	0.436													A	67031443	-	A	67031442	7	5	1	1	0	1	1	0	0	0	0	0	39	131	5	0	3929	0	ABCA9	17	67031442	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	5012713	67031442	14163768	1224	1224											
OTOP2	92736	broad.mit.edu	37	chr17	72920768	72920768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccccaaggagagcccccCggcgccgcgtgcgggcccca	16	19	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:72920768C>T	uc010wrp.1	+	3	130	c.41C>T	c.(40-42)CCG>CTG	p.P14L	USH1G_uc002jme.1_5'Flank|USH1G_uc010wro.1_5'Flank|OTOP2_uc002jmf.1_Missense_Mutation_p.P14L	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	otopetrin 2	14						integral to membrane				ovary(3)|large_intestine(1)	4	all_lung(278;0.172)|Lung NSC(278;0.207)					GAGAGCCCCCCGGCGCCGCGT	0.692													T	72920768	C	T	72920768	3	4	1	1	0	0	0	0	1	0	0	0	11306	652	23	1	43	1	OTOP2	17	72920768	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	5889326	72920768	8274442	1225	1225											
OTOP3	347741	broad.mit.edu	37	chr17	72939797	72939797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatcgaagctgagcttggCatcctcatggaaaaatccac	10	10	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:72939797C>T	uc010wrr.1	+	5	783	c.783C>T	c.(781-783)GGC>GGT	p.G261G	OTOP3_uc010wrq.1_Silent_p.G243G	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	261						integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)					CTGAGCTTGGCATCCTCATGG	0.448													T	72939797	C	T	72939797	2	4	1	1	0	0	0	0	0	0	0	1	11307	697	25	2		2	OTOP3	17	72939797	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	19029	72939797	8255413	1226	1226											
UNC13D	201294	broad.mit.edu	37	chr17	73831088	73831088	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggctgatctgggcaaagcaGgtggatagatccaccgctga	14	9	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:73831088G>T	uc002jpp.2	-	21	2285	c.1905C>A	c.(1903-1905)ACC>ACA	p.T635T	UNC13D_uc010wsk.1_Silent_p.T635T|UNC13D_uc002jpq.1_Silent_p.T285T	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	635	MHD1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			upper_aerodigestive_tract(1)|skin(1)	2			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGCAAAGCAGGTGGATAGAT	0.587									Familial_Hemophagocytic_Lymphohistiocytosis				T	73831088	G	T	73831088	2	4	1	1	0	0	0	0	0	0	0	1	16984	987	35	5		5	UNC13D	17	73831088	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	891291	73831088	7364122	1227	1227											
EVPL	2125	broad.mit.edu	37	chr17	74004369	74004369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatggccgcctccagccgCgagagctcctggccccgctg	14	17	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:74004369C>T	uc002jqi.2	-	22	5145	c.4917G>A	c.(4915-4917)TCG>TCA	p.S1639S	EVPL_uc010wss.1_Silent_p.S1661S|EVPL_uc010wst.1_Silent_p.S1109S	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1639	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CCTCCAGCCGCGAGAGCTCCT	0.677													T	74004369	C	T	74004369	2	4	1	1	0	0	0	0	0	0	0	1	5292	755	27	1		1	EVPL	17	74004369	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	173281	74004369	7190841	1228	1228											
QRICH2	84074	broad.mit.edu	37	chr17	74300520	74300520	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaggctctccagccgtcCgtaatcgcctgctccagctc	10	16	1	1	rs139449389	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:74300520C>T	uc002jrd.1	-	3	363	c.183G>A	c.(181-183)ACG>ACA	p.T61T	QRICH2_uc010dgw.1_5'UTR	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	61							protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						TCCAGCCGTCCGTAATCGCCT	0.592													T	74300520	C	T	74300520	2	4	1	1	0	0	0	0	0	0	0	1	12880	639	23	1		1	QRICH2	17	74300520	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	296151	74300520	6894690	1229	1229											
TK1	7083	broad.mit.edu	37	chr17	76171657	76171657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacaattacggtcttccCggcgttggccatggcctcgc	11	15	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:76171657C>T	uc002juw.2	-	5	556	c.346G>A	c.(346-348)GGG>AGG	p.G116R	TK1_uc002jux.2_Missense_Mutation_p.G158R	NM_003258	NP_003249	P04183	KITH_HUMAN	thymidine kinase 1	116					DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)			ACGGTCTTCCCGGCGTTGGCC	0.592													T	76171657	C	T	76171657	3	4	1	1	0	0	0	0	1	0	0	0	15929	652	23	1	370	1	TK1	17	76171657	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1871137	76171657	5023553	1230	1230											
AFMID	125061	broad.mit.edu	37	chr17	76200772	76200772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatggtccacccgctgaCggcacagggagtggccgtgg	15	13	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:76200772C>T	uc002jva.3	+	5	359	c.344C>T	c.(343-345)ACG>ATG	p.T115M	AFMID_uc002jvb.3_Intron|AFMID_uc002juz.3_Missense_Mutation_p.T115M	NM_001010982	NP_001010982	Q63HM1	AFMID_HUMAN	arylformamidase isoform 1	115						cytosol|nucleus	arylformamidase activity			large_intestine(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CACCCGCTGACGGCACAGGGA	0.592													T	76200772	C	T	76200772	3	4	1	1	0	0	0	0	1	0	0	0	362	536	19	1	362	1	AFMID	17	76200772	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	29115	76200772	4994438	1231	1231											
USP36	57602	broad.mit.edu	37	chr17	76817075	76817075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggacagatctgtacccGgatctccagcgcgacgtcca	12	14	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:76817075G>A	uc002jvz.1	-	8	1151	c.826C>T	c.(826-828)CGG>TGG	p.R276W	USP36_uc002jwa.1_Missense_Mutation_p.R276W|USP36_uc002jwc.1_5'UTR	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	276					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			ATCTGTACCCGGATCTCCAGC	0.552													A	76817075	G	A	76817075	3	1	1	1	0	0	0	0	1	0	0	0	17064	1115	39	1	2597	1	USP36	17	76817075	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	616303	76817075	4378135	1232	1232											
USP36	57602	broad.mit.edu	37	chr17	76825020	76825020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacgggcttgatggcgttgCcgctgttggcgaaggcctgg	18	9	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:76825020C>T	uc002jvz.1	-	5	870	c.545G>A	c.(544-546)GGC>GAC	p.G182D	USP36_uc002jwa.1_Missense_Mutation_p.G182D|USP36_uc002jwd.1_Missense_Mutation_p.G182D	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	182					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GATGGCGTTGCCGCTGTTGGC	0.443													T	76825020	C	T	76825020	3	4	1	1	0	0	0	0	1	0	0	0	17064	739	26	2	2890	2	USP36	17	76825020	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	7945	76825020	4370190	1233	1233											
CCDC40	55036	broad.mit.edu	37	chr17	78013765	78013765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggaaggggaagaggaggCtgtgtcctatggagatgctg	19	4	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:78013765C>T	uc010dht.2	+	3	275	c.248C>T	c.(247-249)GCT>GTT	p.A83V	CCDC40_uc010wub.1_Missense_Mutation_p.A83V	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	83					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			gaagaggaggCTGTGTCCTAT	0.348													T	78013765	C	T	78013765	3	4	1	1	0	0	0	0	1	0	0	0	2812	797	28	2	258	2	CCDC40	17	78013765	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1188745	78013765	3181445	1234	1234											
RNF213	57674	broad.mit.edu	37	chr17	78323578	78323578	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaactctgtagatcaccacTttctccaggctgctaacaag	6	12	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:78323578T>G	uc002jyh.1	+	5	4402	c.4179T>G	c.(4177-4179)ACT>ACG	p.T1393T		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGATCACCACTTTCTCCAGGC	0.473													G	78323578	T	G	78323578	2	3	1	1	0	0	0	0	0	0	0	1	13477	1596	56	5		5	RNF213	17	78323578	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	309813	78323578	2871632	1235	1235											
CHMP6	79643	broad.mit.edu	37	chr17	78971093	78971093	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggcaggaagcttcacTcaggaggatgaagacgccat	12	11	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:78971093T>C	uc002jyw.3	+	6	525	c.447T>C	c.(445-447)ACT>ACC	p.T149T		NM_024591	NP_078867	Q96FZ7	CHMP6_HUMAN	chromatin modifying protein 6	149					cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			ovary(1)	1	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAAGCTTCACTCAGGAGGATG	0.627													C	78971093	T	C	78971093	2	2	1	1	0	0	0	0	0	0	0	1	3360	1538	54	3		3	CHMP6	17	78971093	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	647515	78971093	2224117	1236	1236											
P4HB	5034	broad.mit.edu	37	chr17	79803557	79803557	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttctcatggtccttgtaCgtctctcccagtttatccca	6	13	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:79803557C>T	uc002kbn.1	-	9	1436	c.1239G>A	c.(1237-1239)ACG>ACA	p.T413T	P4HB_uc002kbl.1_Silent_p.T90T|P4HB_uc002kbm.1_Silent_p.T90T	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	413	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GGTCCTTGTACGTCTCTCCCA	0.517													T	79803557	C	T	79803557	2	4	1	1	0	0	0	0	0	0	0	1	11359	523	19	1		1	P4HB	17	79803557	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	832464	79803557	1391653	1237	1237											
RFNG	5986	broad.mit.edu	37	chr17	80007611	80007611	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccaggtgagagtggaagAgggggctgtgcagcaggcgg	20	7	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:80007611A>G	uc002kdj.2	-	6	778	c.770T>C	c.(769-771)CTC>CCC	p.L257P	RFNG_uc002kdh.2_Missense_Mutation_p.L42P|GPS1_uc002kdk.1_5'Flank|GPS1_uc002kdl.1_5'Flank|GPS1_uc010dij.1_5'Flank|GPS1_uc002kdm.1_5'Flank|GPS1_uc002kdn.1_5'Flank|GPS1_uc002kdo.1_5'Flank|GPS1_uc010wvh.1_5'Flank	NM_002917	NP_002908	Q9Y644	RFNG_HUMAN	radical fringe	257	Lumenal (Potential).				cell differentiation|nervous system development|organ morphogenesis|pattern specification process	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AGAGTGGAAGAGGGGGCTGTG	0.662													G	80007611	A	G	80007611	3	3	1	1	0	0	0	0	1	0	0	0	13252	304	11	3	237	3	RFNG	17	80007611	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	204054	80007611	1187599	1238	1238											
FN3KRP	79672	broad.mit.edu	37	chr17	80684911	80684911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttactccgcctaccacgGcaaaatccccaaggccccag	6	18	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:80684911G>A	uc002kfu.2	+	6	844	c.794G>A	c.(793-795)GGC>GAC	p.G265D	FN3KRP_uc010wvr.1_Missense_Mutation_p.G215D	NM_024619	NP_078895	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	265				G -> C (in Ref. 4; AAH01458).			kinase activity				0	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GCCTACCACGGCAAAATCCCC	0.502													A	80684911	G	A	80684911	3	1	1	1	0	0	0	0	1	0	0	0	5964	1203	42	2	816	2	FN3KRP	17	80684911	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	677300	80684911	510299	1239	1239											
LAMA1	284217	broad.mit.edu	37	chr18	6978296	6978296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctcctggctcagccccGccacgtccctcagcgtgctc	10	20	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:6978296G>A	uc002knm.2	-	43	6183	c.6089C>T	c.(6088-6090)GCG>GTG	p.A2030V	LAMA1_uc010wzj.1_Missense_Mutation_p.A1506V	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2030	Domain II and I.				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	p.A2030A(1)		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)	GCTCAGCCCCGCCACGTCCCT	0.552													A	6978296	G	A	6978296	3	1	1	1	0	0	0	0	1	0	0	0	8605	1087	38	1	3222	1	LAMA1	18	6978296	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08		6978296	71098952	1240	1240											
PTPRM	5797	broad.mit.edu	37	chr18	8376108	8376108	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctggccggatcatggggTcccctaccatgccaccggcc	13	16	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:8376108T>C	uc002knn.3	+	23	3700	c.3197T>C	c.(3196-3198)GTC>GCC	p.V1066A	PTPRM_uc010dkv.2_Missense_Mutation_p.V1079A|PTPRM_uc010wzl.1_Missense_Mutation_p.V853A	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1066	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				GATCATGGGGTCCCCTACCAT	0.577													C	8376108	T	C	8376108	3	2	1	1	0	0	0	0	1	0	0	0	12806	1667	58	3	3334	3	PTPRM	18	8376108	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1397812	8376108	69701140	1241	1241											
RALBP1	10928	broad.mit.edu	37	chr18	9517199	9517199	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctgatgcagtagagaggAccatgatgtatgatggcatt	14	5	0	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:9517199A>G	uc002kob.2	+	3	824	c.601A>G	c.(601-603)ACC>GCC	p.T201A	RALBP1_uc002koc.2_Missense_Mutation_p.T201A	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	201	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			central_nervous_system(1)	1						AGTAGAGAGGACCATGATGTA	0.423													G	9517199	A	G	9517199	3	3	1	1	0	0	0	0	1	0	0	0	13012	275	10	3	607	3	RALBP1	18	9517199	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1141091	9517199	68560049	1242	1242											
GNAL	2774	broad.mit.edu	37	chr18	11753646	11753646	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggaaaagaaacagaaaattCtggacatccggaaaaatgtt	10	5	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:11753646C>T	uc010dkz.2	+	4	484	c.238C>T	c.(238-240)CTG>TTG	p.L80L	GNAL_uc002kqc.2_Silent_p.L157L|GNAL_uc002kqd.2_Silent_p.L80L	NM_001142339	NP_001135811	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein),	80					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						ACAGAAAATTCTGGACATCCG	0.323													T	11753646	C	T	11753646	2	4	1	1	0	0	0	0	0	0	0	1	6507	912	32	4		4	GNAL	18	11753646	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2236447	11753646	66323602	1243	1243											
RNMT	8731	broad.mit.edu	37	chr18	13741531	13741531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttctgattgacaaatttcGtgacccacaaatgtgttttg	7	8	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:13741531G>A	uc002ksk.1	+	6	882	c.815G>A	c.(814-816)CGT>CAT	p.R272H	RNMT_uc002ksl.1_Missense_Mutation_p.R272H|RNMT_uc002ksm.1_Missense_Mutation_p.R272H|RNMT_uc010dlk.2_Missense_Mutation_p.R272H|RNMT_uc010xae.1_RNA	NM_003799	NP_003790	O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	272					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding				0						GACAAATTTCGTGACCCACAA	0.338													A	13741531	G	A	13741531	3	1	1	1	0	0	0	0	1	0	0	0	13506	1145	40	1	833	1	RNMT	18	13741531	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1987885	13741531	64335717	1244	1244											
MC5R	4161	broad.mit.edu	37	chr18	13826447	13826447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcccggggccagctctgCgcggcagaggaccagcatgc	15	15	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:13826447C>T	uc010xaf.1	+	1	683	c.683C>T	c.(682-684)GCG>GTG	p.A228V		NM_005913	NP_005904	P33032	MC5R_HUMAN	melanocortin 5 receptor	228	Cytoplasmic (Potential).			ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			ovary(3)|lung(2)|breast(1)	6						GCCAGCTCTGCGCGGCAGAGG	0.612													T	13826447	C	T	13826447	3	4	1	1	0	0	0	0	1	0	0	0	9367	768	27	1	685	1	MC5R	18	13826447	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	84916	13826447	64250801	1245	1245											
ROCK1	6093	broad.mit.edu	37	chr18	18564452	18564452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattcattttgtaacaacagCcgcttatttgattcctgctc	5	10	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:18564452C>T	uc002kte.2	-	20	3290	c.2349G>A	c.(2347-2349)CGG>CGA	p.R783R		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	783	Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					GTAACAACAGCCGCTTATTTG	0.313													T	18564452	C	T	18564452	2	4	1	1	0	0	0	0	0	0	0	1	13517	726	26	2		2	ROCK1	18	18564452	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	4738005	18564452	59512796	1246	1246											
ROCK1	6093	broad.mit.edu	37	chr18	18586465	18586465	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgttcagggactctaActgactaattgacttgctca	7	11	4	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:18586465A>G	uc002kte.2	-	16	2673	c.1732T>C	c.(1732-1734)TTA>CTA	p.L578L		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	578	Interaction with FHOD1.|Potential.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					AGGGACTCTAACTGACTAATT	0.383													G	18586465	A	G	18586465	2	3	1	1	0	0	0	0	0	0	0	1	13517	40	2	3		3	ROCK1	18	18586465	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	22013	18586465	59490783	1247	1247											
NPC1	4864	broad.mit.edu	37	chr18	21131673	21131673	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatggagcaaacttgtatcAttcagagaggcaggagccct	11	9	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:21131673A>G	uc002kum.3	-	10	1846	c.1572T>C	c.(1570-1572)AAT>AAC	p.N524N	NPC1_uc010xaz.1_Intron|NPC1_uc010xba.1_Silent_p.N369N	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	524					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AACTTGTATCATTCAGAGAGG	0.438													G	21131673	A	G	21131673	2	3	1	1	0	0	0	0	0	0	0	1	10570	214	8	3		3	NPC1	18	21131673	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	2545208	21131673	56945575	1248	1248											
DSC3	1825	broad.mit.edu	37	chr18	28588412	28588412	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttcaaggctgtcactctgGgaatatctctagcaaatggc	10	9	4	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:28588412G>T	uc002kwj.3	-	10	1498	c.1343C>A	c.(1342-1344)CCC>CAC	p.P448H	DSC3_uc002kwi.3_Missense_Mutation_p.P448H	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	448	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)|skin(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTCACTCTGGGAATATCTCT	0.438													T	28588412	G	T	28588412	3	4	1	1	0	0	0	0	1	0	0	0	4767	1232	43	5	1406	5	DSC3	18	28588412	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	7456739	28588412	49488836	1249	1249											
KIAA1012	22878	broad.mit.edu	37	chr18	29429625	29429625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctgtatgcacaggcaaGtgagcttgtggttttttcaa	10	6	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:29429625G>A	uc002kxc.3	-	25	4003	c.3639C>T	c.(3637-3639)CAC>CAT	p.H1213H	KIAA1012_uc002kxb.3_Silent_p.H1159H|KIAA1012_uc002kxd.3_RNA	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	1213					ER to Golgi vesicle-mediated transport	cis-Golgi network					0						GCACAGGCAAGTGAGCTTGTG	0.353													A	29429625	G	A	29429625	2	1	1	1	0	0	0	0	0	0	0	1	8204	1020	36	4		4	KIAA1012	18	29429625	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	841213	29429625	48647623	1250	1250											
DTNA	1837	broad.mit.edu	37	chr18	32459614	32459614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgaaaaggcttttctagCgcaaatccatgcccgaaaac	7	12	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:32459614C>T	uc010dmn.1	+	19	2013	c.2012C>T	c.(2011-2013)GCG>GTG	p.A671V	DTNA_uc002kxw.2_Missense_Mutation_p.A614V|DTNA_uc010dmj.2_Missense_Mutation_p.A611V|DTNA_uc002kxz.2_Missense_Mutation_p.A618V|DTNA_uc002kxy.2_Missense_Mutation_p.A611V|DTNA_uc010xby.1_Missense_Mutation_p.A361V|DTNA_uc010xbz.1_Missense_Mutation_p.A380V|DTNA_uc010xca.1_Missense_Mutation_p.A323V|DTNA_uc002kye.2_Missense_Mutation_p.A319V	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	671					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0						GCTTTTCTAGCGCAAATCCAT	0.478													T	32459614	C	T	32459614	3	4	1	1	0	0	0	0	1	0	0	0	4788	768	27	1	2176	1	DTNA	18	32459614	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3029989	32459614	45617634	1251	1251											
ZNF396	252884	broad.mit.edu	37	chr18	32954226	32954226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgaagtttgtgttaggaGtgatgatgactttcccaatt	10	6	1	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:32954226G>A	uc010xcf.1	-	2	163	c.31C>T	c.(31-33)CTC>TTC	p.L11F		NM_145756	NP_665699	Q96N95	ZN396_HUMAN	zinc finger protein 396	11					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TGTGTTAGGAGTGATGATGAC	0.458													A	32954226	G	A	32954226	3	1	1	1	0	0	0	0	1	0	0	0	17879	1029	36	4	986	4	ZNF396	18	32954226	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	494612	32954226	45123022	1252	1252											
INO80C	125476	broad.mit.edu	37	chr18	33060460	33060460	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaggtttggcagcttttTccacaggtcctgtgctaaac	10	10	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:33060460T>C	uc002kyy.3	-	2	341	c.224A>G	c.(223-225)GAA>GGA	p.E75G	INO80C_uc002kyw.1_Missense_Mutation_p.E75G|INO80C_uc002kyx.3_Missense_Mutation_p.E20G|INO80C_uc010dmt.2_Missense_Mutation_p.E111G	NM_194281	NP_919257	Q6PI98	IN80C_HUMAN	Ies6-similar protein isoform 2	75					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex					0						GGCAGCTTTTTCCACAGGTCC	0.413													C	33060460	T	C	33060460	3	2	1	1	0	0	0	0	1	0	0	0	7748	1783	62	3	370	3	INO80C	18	33060460	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	106234	33060460	45016788	1253	1253											
MOCOS	55034	broad.mit.edu	37	chr18	33800026	33800026	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttttgtttaggtgaccagGtggcctgtaggaaaccaagg	13	7	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:33800026G>A	uc002kzq.3	+	9	1829	c.1806G>A	c.(1804-1806)AGG>AGA	p.R602R		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	602					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	AGGTGACCAGGTGGCCTGTAG	0.512													A	33800026	G	A	33800026	2	1	1	1	0	0	0	0	0	0	0	1	9689	1252	44	4		4	MOCOS	18	33800026	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	739566	33800026	44277222	1254	1254											
CELF4	56853	broad.mit.edu	37	chr18	35145328	35145328	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtactcacctttgtgcaTgcctgtgaacctgtccttca	9	12	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:35145328T>C	uc002lae.2	-	1	673	c.277A>G	c.(277-279)ATG>GTG	p.M93V	CELF4_uc010dnd.1_Missense_Mutation_p.M93V|CELF4_uc002lag.2_Missense_Mutation_p.M93V|CELF4_uc002laf.2_Missense_Mutation_p.M89V|CELF4_uc002lai.2_Missense_Mutation_p.M89V	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	93	RRM 1.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						CCTTTGTGCATGCCTGTGAAC	0.617													C	35145328	T	C	35145328	3	2	1	1	0	0	0	0	1	0	0	0	3218	1464	51	3	1231	3	CELF4	18	35145328	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1345302	35145328	42931920	1255	1255											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260101	44260101	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggcatggcgtggaagccGggacgcggcttgacgttgtc	19	9	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:44260101G>A	uc002lcj.1	-	7	1603	c.1035C>T	c.(1033-1035)CCC>CCT	p.P345P	ST8SIA5_uc002lci.1_Silent_p.P192P|ST8SIA5_uc010xcy.1_Silent_p.P381P|ST8SIA5_uc010xcz.1_Silent_p.P314P	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	345	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						CGTGGAAGCCGGGACGCGGCT	0.607													A	44260101	G	A	44260101	2	1	1	1	0	0	0	0	0	0	0	1	15234	1103	39	1		1	ST8SIA5	18	44260101	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	9114773	44260101	33817147	1256	1256											
ZBTB7C	201501	broad.mit.edu	37	chr18	45567233	45567233	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggatagcagccagagcctcAggctggacaaagtcgatctc	12	11	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:45567233A>G	uc002lda.2	-	1	262	c.246T>C	c.(244-246)CCT>CCC	p.P82P	ZBTB7C_uc002ldb.2_Silent_p.P82P|ZBTB7C_uc010dnu.2_Silent_p.P91P|ZBTB7C_uc010dnv.2_Silent_p.P104P|ZBTB7C_uc010dnw.2_Silent_p.P82P|ZBTB7C_uc010dnx.1_Silent_p.P82P|ZBTB7C_uc010dny.1_Silent_p.P82P|ZBTB7C_uc010dnz.1_Silent_p.P104P|ZBTB7C_uc010dob.1_Silent_p.P82P|ZBTB7C_uc010doc.1_Silent_p.P91P|ZBTB7C_uc010dod.1_Silent_p.P104P|ZBTB7C_uc010doe.1_Silent_p.P82P|ZBTB7C_uc010dof.1_Silent_p.P82P|ZBTB7C_uc010dog.1_Silent_p.P82P|ZBTB7C_uc010doh.1_Silent_p.P91P|ZBTB7C_uc010doi.1_Silent_p.P82P|ZBTB7C_uc010doj.1_Silent_p.P91P|ZBTB7C_uc010dok.1_Silent_p.P131P|ZBTB7C_uc010dol.1_Silent_p.P91P|ZBTB7C_uc010doa.1_Silent_p.P104P|ZBTB7C_uc010don.1_Silent_p.P90P|ZBTB7C_uc010doo.1_Silent_p.P82P|ZBTB7C_uc010dop.1_Silent_p.P82P|ZBTB7C_uc010doq.1_Silent_p.P91P|ZBTB7C_uc010dor.1_Silent_p.P104P|ZBTB7C_uc010dos.1_Silent_p.P82P|ZBTB7C_uc010dot.1_Silent_p.P82P|ZBTB7C_uc010dou.1_Silent_p.P91P|ZBTB7C_uc010dom.1_Silent_p.P91P	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	82	BTB.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						CCAGAGCCTCAGGCTGGACAA	0.582													G	45567233	A	G	45567233	2	3	1	1	0	0	0	0	0	0	0	1	17552	175	7	3		3	ZBTB7C	18	45567233	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1307132	45567233	32510015	1257	1257											
KIAA0427	9811	broad.mit.edu	37	chr18	46287807	46287807	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccccagcagaacaagatggAcaagctgatcgagatcctga	10	11	0	5			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:46287807A>G	uc002ldc.2	+	9	1403	c.1118A>G	c.(1117-1119)GAC>GGC	p.D373G	KIAA0427_uc002ldd.2_Missense_Mutation_p.D375G|KIAA0427_uc002lde.3_Missense_Mutation_p.D2G	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	373					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						AACAAGATGGACAAGCTGATC	0.572													G	46287807	A	G	46287807	3	3	1	1	0	0	0	0	1	0	0	0	8176	275	10	3	1154	3	KIAA0427	18	46287807	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	720574	46287807	31789441	1258	1258											
ME2	4200	broad.mit.edu	37	chr18	48473427	48473427	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taataaaatggctttccgatAcccagaacctgaagacaagg	8	9	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:48473427A>G	uc002ley.2	+	16	1884	c.1628A>G	c.(1627-1629)TAC>TGC	p.Y543C	ME2_uc010dpd.2_3'UTR	NM_002396	NP_002387	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	543					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding				0		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	GCTTTCCGATACCCAGAACCT	0.393													G	48473427	A	G	48473427	3	3	1	1	0	0	0	0	1	0	0	0	9418	391	14	3	1686	3	ME2	18	48473427	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	2185620	48473427	29603821	1259	1259											
DCC	1630	broad.mit.edu	37	chr18	50976892	50976893	+	Frame_Shift_Ins	INS	-	-	C													cgccaattggacaaatgcacINScccccgcatggcagtgtcac							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:50976891_50976892A>AC	uc002lfe.2	+	22	3867_3868	c.3251_3252A>AC	c.(3250-3252)cacfs	p.H1084fs	DCC_uc010dpf.2_Frame_Shift_Ins_p.H719fs	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1084					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGACAAATGCACCCCCCGCATG	0.495													C	50976893	-	C	50976892	7	5	1	1	0	1	1	0	0	0	0	0	4282	506	18	0	3342	0	DCC	18	50976892	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	2503465	50976892	27100356	1260	1260											
TCF4	6925	broad.mit.edu	37	chr18	52896116	52896116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgaggatgacggccaccGcctggtggaggatcaggagc	17	10	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:52896116G>A	uc002lfz.2	-	18	2441	c.1829C>T	c.(1828-1830)GCG>GTG	p.A610V	TCF4_uc002lfw.3_Missense_Mutation_p.A454V|TCF4_uc010xdu.1_Missense_Mutation_p.A480V|TCF4_uc010xdv.1_Missense_Mutation_p.A480V|TCF4_uc002lfx.2_Missense_Mutation_p.A543V|TCF4_uc010xdw.1_Missense_Mutation_p.A480V|TCF4_uc002lfy.2_Missense_Mutation_p.A568V|TCF4_uc010xdx.1_Missense_Mutation_p.A586V|TCF4_uc010dph.1_Missense_Mutation_p.A614V|TCF4_uc010xdy.1_Missense_Mutation_p.A590V|TCF4_uc002lga.2_Missense_Mutation_p.A716V|TCF4_uc002lgb.1_Missense_Mutation_p.A450V|TCF4_uc010dpi.2_Missense_Mutation_p.A620V|TCF4_uc002lfv.2_Missense_Mutation_p.A393V	NM_003199	NP_003190	P15884	ITF2_HUMAN	transcription factor 4 isoform b	610	Helix-loop-helix motif.		A -> V (in PTHS; loss of function).		positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			ovary(1)|lung(1)	2				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GACGGCCACCGCCTGGTGGAG	0.607													A	52896116	G	A	52896116	3	1	1	1	0	0	0	0	1	0	0	0	15692	1087	38	1	182	1	TCF4	18	52896116	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1919224	52896116	25181132	1261	1261											
CDH20	28316	broad.mit.edu	37	chr18	59157872	59157872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggggctgatggaccttaCgaccaccgttctctcggaca	12	13	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:59157872C>T	uc010dps.1	+	1	98	c.86C>T	c.(85-87)ACG>ATG	p.T29M	CDH20_uc002lif.2_Missense_Mutation_p.T23M	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	29					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				ATGGACCTTACGACCACCGTT	0.522													T	59157872	C	T	59157872	3	4	1	1	0	0	0	0	1	0	0	0	3106	536	19	1	88	1	CDH20	18	59157872	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	6261756	59157872	18919376	1262	1262											
CDH20	28316	broad.mit.edu	37	chr18	59166434	59166434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccagcttcattcagatatgGacaggggagacggatccatc	11	11	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:59166434G>A	uc010dps.1	+	2	274	c.262G>A	c.(262-264)GAC>AAC	p.D88N	CDH20_uc002lif.2_Missense_Mutation_p.D82N	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	88	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				TTCAGATATGGACAGGGGAGA	0.453													A	59166434	G	A	59166434	3	1	1	1	0	0	0	0	1	0	0	0	3106	1174	41	4	268	4	CDH20	18	59166434	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	8562	59166434	18910814	1263	1263											
DOK6	220164	broad.mit.edu	37	chr18	67345077	67345077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggccgcaggagtgcagCgggaacagaatggtaggtgt	17	7	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:67345077C>T	uc002lkl.2	+	4	587	c.397C>T	c.(397-399)CGG>TGG	p.R133W		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	docking protein 6	133	IRS-type PTB.						insulin receptor binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				AGGAGTGCAGCGGGAACAGAA	0.443													T	67345077	C	T	67345077	3	4	1	1	0	0	0	0	1	0	0	0	4701	759	27	1	411	1	DOK6	18	67345077	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	8178643	67345077	10732171	1264	1264											
GALR1	2587	broad.mit.edu	37	chr18	74962947	74962947	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcctcctccctcagggTgtcccgcaacgcgctgctgg	12	18	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:74962947T>C	uc002lms.3	+	1	940	c.443T>C	c.(442-444)GTG>GCG	p.V148A		NM_001480	NP_001471	P47211	GALR1_HUMAN	galanin receptor 1	148	Cytoplasmic (Potential).				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			lung(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TCCCTCAGGGTGTCCCGCAAC	0.692													C	74962947	T	C	74962947	3	2	1	1	0	0	0	0	1	0	0	0	6227	1696	59	3	445	3	GALR1	18	74962947	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	7617870	74962947	3114301	1265	1265											
CTDP1	9150	broad.mit.edu	37	chr18	77470348	77470348	+	Splice_Site	DEL	T	T	-													cctgttttcttttccaaggcTttttagaccccgagaagaag							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:77470347_77470347CT>C	uc002lnh.2	+	6	920	c.773_splice	c.e6-1	p.G258_splice	CTDP1_uc002lni.2_Splice_Site_p.G258_splice|CTDP1_uc010drd.2_Splice_Site_p.G258_splice|CTDP1_uc021ult.1_Splice_Site_p.G139_splice	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	258	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TTTTCCAAGGCTTTTTAGACC	0.403													-	77470348	T	-	77470348	8	5	1	1	0	1	0	1	0	0	1	0	4002	1609	56	0	797	0	CTDP1	18	77470348	Splice_Site	DEL	T	TCGA-B7-5816-01A-21D-1600-08	2507401	77470348	606900	1266	1266											
ADNP2	22850	broad.mit.edu	37	chr18	77894261	77894261	+	Frame_Shift_Del	DEL	C	C	-													ccctggaagcctcactcattCcccccctgctgctggccaat							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:77894260_77894260TC>T	uc002lnw.3	+	3	1419	c.964_964TC>T	c.(964-966)tccfs	p.S322fs		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	322	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A325fs*59(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CCTCACTCATTCCCCCCCTGC	0.642													-	77894261	C	-	77894261	7	5	1	1	0	1	0	1	0	0	0	0	324	855	30	0	975	0	ADNP2	18	77894261	Frame_Shift_Del	DEL	C	TCGA-B7-5816-01A-21D-1600-08	423913	77894261	182987	1267	1267											
SHC2	25759	broad.mit.edu	37	chr19	422188	422188	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggtgcttgggctgcccGgcgtgcatgccggtgaggac	18	11	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:422188G>A	uc002loq.3	-	11	1578	c.1578C>T	c.(1576-1578)GCC>GCT	p.A526A	SHC2_uc002lop.3_Silent_p.A267A	NM_012435	NP_036567	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing)	526	SH2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol					0		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCTGCCCGGCGTGCATGC	0.687													A	422188	G	A	422188	2	1	1	1	0	0	0	0	0	0	0	1	14271	1103	39	1		1	SHC2	19	422188	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08		422188	58706795	1268	1268											
BSG	682	broad.mit.edu	37	chr19	579603	579603	+	Frame_Shift_Del	DEL	G	G	-													acagggcaccgctggctgaaGgggggcgtggtgctgaagga							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:579602_579602AG>A	uc002loz.3	+	2	616	c.518_518AG>A	c.(517-519)aagfs	p.K173fs	BSG_uc002loy.3_Intron|BSG_uc021ulx.1_5'UTR|BSG_uc002lpa.3_Frame_Shift_Del_p.K57fs|BSG_uc002lpc.3_Frame_Shift_Del_p.K220fs	NM_001728	NP_001719	P35613	BASI_HUMAN	Homo sapiens basigin (Ok blood group) (BSG), transcript variant 1, mRNA.	173	Ig-like C2-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTGGCTGAAGGGGGGCGTG	0.622													-	579603	G	-	579603	7	5	1	1	0	1	0	1	0	0	0	0	1529	991	35	0	565	0	BSG	19	579603	Frame_Shift_Del	DEL	G	TCGA-B7-5816-01A-21D-1600-08	157415	579603	58549380	1269	1269											
HCN2	610	broad.mit.edu	37	chr19	608088	608088	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgaccatgctcagcaTgattgtgggtgccacctgct	12	12	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:608088T>C	uc002lpe.2	+	4	1396	c.1343T>C	c.(1342-1344)ATG>ACG	p.M448T		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic	448	Helical; Name=Segment S6; (Potential).				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGCTCAGCATGATTGTGGGT	0.622													C	608088	T	C	608088	3	2	1	1	0	0	0	0	1	0	0	0	6997	1464	51	3	1357	3	HCN2	19	608088	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	28485	608088	58520895	1270	1270											
HMHA1	23526	broad.mit.edu	37	chr19	1079757	1079757	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgacgcgaagacgcagaAgcaggagctggaggatacca	16	10	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:1079757A>G	uc002lqz.1	+	12	1661	c.1430A>G	c.(1429-1431)AAG>AGG	p.K477R	HMHA1_uc010xgd.1_Missense_Mutation_p.K493R|HMHA1_uc010xge.1_Missense_Mutation_p.K317R|HMHA1_uc002lra.1_Missense_Mutation_p.K317R|HMHA1_uc002lrb.1_Missense_Mutation_p.K360R|HMHA1_uc002lrc.1_Missense_Mutation_p.K112R	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	477	Potential.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGACGCAGAAGCAGGAGCTG	0.682													G	1079757	A	G	1079757	3	3	1	1	0	0	0	0	1	0	0	0	7240	72	3	3	1476	3	HMHA1	19	1079757	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	471669	1079757	58049226	1271	1271											
AP3D1	8943	broad.mit.edu	37	chr19	2118661	2118661	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagccggtccaccatgagcTgggtgacggcctgagcgccc	15	15	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:2118661T>G	uc002luz.2	-	15	1875	c.1652A>C	c.(1651-1653)CAG>CCG	p.Q551P	AP3D1_uc002luy.2_Missense_Mutation_p.Q460P|AP3D1_uc002lva.2_Missense_Mutation_p.Q551P	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	551	HEAT 11.				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCATGAGCTGGGTGACGGC	0.642													G	2118661	T	G	2118661	3	3	1	1	0	0	0	0	1	0	0	0	746	1580	55	5	2031	5	AP3D1	19	2118661	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1038904	2118661	57010322	1272	1272											
TLE6	79816	broad.mit.edu	37	chr19	2989687	2989687	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcaggtctcaactgccAggccctggatgccaacctgg	12	14	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:2989687A>G	uc002lwu.2	+	12	1179	c.779A>G	c.(778-780)CAG>CGG	p.Q260R	TLE6_uc002lwt.2_Missense_Mutation_p.Q383R|TLE6_uc010dtg.2_Missense_Mutation_p.Q383R|TLE6_uc002lwv.2_Missense_Mutation_p.Q164R	NM_024760	NP_079036	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 isoform 2	260	WD 3.				regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAACTGCCAGGCcctggat	0.552													G	2989687	A	G	2989687	3	3	1	1	0	0	0	0	1	0	0	0	15939	188	7	3	1194	3	TLE6	19	2989687	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	871026	2989687	56139296	1273	1273											
TLE6	79816	broad.mit.edu	37	chr19	2991983	2991983	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaccaattcaagtctcagGtgcggaggccgggatggggt	16	8	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:2991983G>A	uc002lwu.2	+	13	1417	c.1017_splice	c.e13+1	p.Q339_splice	TLE6_uc002lwt.2_Splice_Site_p.Q462_splice|TLE6_uc010dtg.2_Splice_Site_p.Q462_splice|TLE6_uc002lwv.2_Splice_Site_p.Q243_splice	NM_024760	NP_079036	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 isoform 2						regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGTCTCAGGTGCGGAGGCC	0.473													A	2991983	G	A	2991983	5	1	1	1	0	0	0	0	0	0	1	0	15939	1275	44	4	1437	4	TLE6	19	2991983	Splice_Site	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2296	2991983	56137000	1274	1274											
UBXN6	80700	broad.mit.edu	37	chr19	4447552	4447552	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaggcacgcccacctgaaAcaccttgttctgcagcttga	9	13	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:4447552A>G	uc002man.1	-	6	706	c.610T>C	c.(610-612)TTT>CTT	p.F204L	UBXN6_uc010dty.1_Missense_Mutation_p.F108L|UBXN6_uc002mam.1_Missense_Mutation_p.F151L	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	204	PUB.					microtubule organizing center|nucleus	protein binding				0						CCCACCTGAAACACCTTGTTC	0.672													G	4447552	A	G	4447552	3	3	1	1	0	0	0	0	1	0	0	0	16914	43	2	3	739	3	UBXN6	19	4447552	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1455569	4447552	54681431	1275	1275											
PRR22	163154	broad.mit.edu	37	chr19	5784292	5784292	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggggagcagaggccatgcCttcaggctcccacttaggga	14	11	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:5784292C>A	uc002mdb.1	-	1	319	c.-40G>T	c.(-42--38)AAGGC>AATGC		PRR22_uc010xiv.1_Intron	NM_153359	NP_699190	Q8IZ63	PRR22_HUMAN	proline rich 22 isoform 2												0						GAGGCCATGCCTTCAGGCTCC	0.617													A	5784292	C	A	5784292	1	1	1	1	0	0	0	0	0	0	0	0	12593	696	24	5		5	PRR22	19	5784292	Translation_Start_Site	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1336740	5784292	53344691	1276	1276											
CLPP	8192	broad.mit.edu	37	chr19	6364536	6364536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccgatctgcacctggtgCgtgggccaggccgccagcat	13	15	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:6364536C>T	uc002mem.1	+	4	564	c.441C>T	c.(439-441)TGC>TGT	p.C147C	CLPP_uc002men.1_5'Flank	NM_006012	NP_006003	Q16740	CLPP_HUMAN	caseinolytic peptidase, ATP-dependent,	147					proteolysis	mitochondrial matrix	ATP binding|protein binding|serine-type endopeptidase activity			ovary(1)	1						GCACCTGGTGCGTGGGCCAGG	0.677													T	6364536	C	T	6364536	2	4	1	1	0	0	0	0	0	0	0	1	3552	776	27	1		1	CLPP	19	6364536	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	580244	6364536	52764447	1277	1277											
C3	718	broad.mit.edu	37	chr19	6697473	6697473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgacatatggaacggacaacGaggacttgggggggatggtt	17	5	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:6697473G>A	uc002mfm.2	-	21	2740	c.2678C>T	c.(2677-2679)TCG>TTG	p.S893L		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	893					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AACGGACAACGAGGACTTGGG	0.572													A	6697473	G	A	6697473	3	1	1	1	0	0	0	0	1	0	0	0	2204	1059	37	1	2397	1	C3	19	6697473	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	332937	6697473	52431510	1278	1278											
SH2D3A	10045	broad.mit.edu	37	chr19	6755214	6755214	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgccttggcttgaagctgCccatcggaggccctgagact	14	12	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:6755214C>T	uc002mft.2	-	5	803	c.609G>A	c.(607-609)GGG>GGA	p.G203G	SH2D3A_uc010xjg.1_Silent_p.G81G	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	203					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(2)	2						CTTGAAGCTGCCCATCGGAGG	0.647													T	6755214	C	T	6755214	2	4	1	1	0	0	0	0	0	0	0	1	14233	726	26	2		2	SH2D3A	19	6755214	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	57741	6755214	52373769	1279	1279											
VAV1	7409	broad.mit.edu	37	chr19	6833612	6833612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagtgtctggggagggtcCctccatgtggccgacatggg	18	9	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:6833612C>T	uc002mfu.1	+	17	1781	c.1684C>T	c.(1684-1686)CCT>TCT	p.P562S	VAV1_uc010xjh.1_Missense_Mutation_p.P530S|VAV1_uc010dva.1_Missense_Mutation_p.P562S|VAV1_uc002mfv.1_Missense_Mutation_p.P507S	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	562	Phorbol-ester/DAG-type.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						GGGGAGGGTCCCTCCATGTGG	0.567													T	6833612	C	T	6833612	3	4	1	1	0	0	0	0	1	0	0	0	17128	623	22	4	1750	4	VAV1	19	6833612	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	78398	6833612	52295371	1280	1280											
EMR1	2015	broad.mit.edu	37	chr19	6926447	6926447	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttctggatgctggtggAggctgtgatactgttcttga	13	7	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:6926447A>G	uc002mfw.2	+	16	2095	c.2057A>G	c.(2056-2058)GAG>GGG	p.E686G	EMR1_uc010dvc.2_Missense_Mutation_p.E621G|EMR1_uc010dvb.2_Missense_Mutation_p.E634G|EMR1_uc010xji.1_Missense_Mutation_p.E545G|EMR1_uc010xjj.1_Missense_Mutation_p.E509G	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	686	Helical; Name=3; (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					ATGCTGGTGGAGGCTGTGATA	0.522													G	6926447	A	G	6926447	3	3	1	1	0	0	0	0	1	0	0	0	5104	304	11	3	2119	3	EMR1	19	6926447	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	92835	6926447	52202536	1281	1281											
EMR1	2015	broad.mit.edu	37	chr19	6926611	6926611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggctatggaatgcataatCggtgagtgacatcctctctc	11	9	1	2	rs149410886		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:6926611C>T	uc002mfw.2	+	16	2259	c.2221C>T	c.(2221-2223)CGC>TGC	p.R741C	EMR1_uc010dvc.2_Missense_Mutation_p.R676C|EMR1_uc010dvb.2_Missense_Mutation_p.R689C|EMR1_uc010xji.1_Missense_Mutation_p.R600C|EMR1_uc010xjj.1_Missense_Mutation_p.R564C	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	741	Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					AATGCATAATCGGTGAGTGAC	0.502													T	6926611	C	T	6926611	3	4	1	1	0	0	0	0	1	0	0	0	5104	898	31	1	2283	1	EMR1	19	6926611	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	164	6926611	52202372	1282	1282											
INSR	3643	broad.mit.edu	37	chr19	7167978	7167978	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctaactcttctacttaCgcctctttgtagaacagcat	4	13	4	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:7167978C>T	uc002mgd.1	-	7	1719	c.1610_splice	c.e7+1	p.A537_splice	INSR_uc002mge.1_Splice_Site_p.A537_splice|INSR_uc002mgf.2_Splice_Site_p.A537_splice	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor						activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTCTACTTACGCCTCTTTGT	0.537													T	7167978	C	T	7167978	5	4	1	1	0	0	0	0	0	0	1	0	7773	550	19	1	2601	1	INSR	19	7167978	Splice_Site	SNP	C	TCGA-B7-5816-01A-21D-1600-08	241367	7167978	51961005	1283	1283											
XAB2	56949	broad.mit.edu	37	chr19	7685199	7685199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgagaccttgagcatctgcGaggccatgaagttgacctgc	12	12	1	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:7685199G>A	uc002mgx.2	-	16	2254	c.2228C>T	c.(2227-2229)TCG>TTG	p.S743L		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	743					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						GAGCATCTGCGAGGCCATGAA	0.627								Direct_reversal_of_damage|NER					A	7685199	G	A	7685199	3	1	1	1	0	0	0	0	1	0	0	0	17415	1059	37	1	355	1	XAB2	19	7685199	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	517221	7685199	51443784	1284	1284											
CLEC4M	10332	broad.mit.edu	37	chr19	7830088	7830088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtgtcttggccatggcGccctggtgctgcaactcctc	13	14	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:7830088G>A	uc002mih.2	+	3	266	c.148G>A	c.(148-150)GCC>ACC	p.A50T	CLEC4M_uc010xjv.1_Intron|CLEC4M_uc002mhy.2_Intron|CLEC4M_uc010xjw.1_Intron|CLEC4M_uc010dvt.2_Missense_Mutation_p.A50T|CLEC4M_uc010dvs.2_Missense_Mutation_p.A49T|CLEC4M_uc010xjx.1_Missense_Mutation_p.A22T|CLEC4M_uc002mhz.2_Missense_Mutation_p.A50T|CLEC4M_uc002mic.2_Missense_Mutation_p.A22T|CLEC4M_uc002mia.2_Intron	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M isoform	50	Helical; Signal-anchor for type II membrane protein; (Probable).				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			pancreas(1)	1						TGGCCATGGCGCCCTGGTGCT	0.632													A	7830088	G	A	7830088	3	1	1	1	0	0	0	0	1	0	0	0	3518	1087	38	1	158	1	CLEC4M	19	7830088	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	144889	7830088	51298895	1285	1285											
FBN3	84467	broad.mit.edu	37	chr19	8190894	8190894	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgggaaggactcacactcGttcacatctgggtaaggagg	13	11	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:8190894G>A	uc002mjf.2	-	21	2634	c.2613C>T	c.(2611-2613)AAC>AAT	p.N871N		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	871	EGF-like 11; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						ACTCACACTCGTTCACATCTG	0.617													A	8190894	G	A	8190894	2	1	1	1	0	0	0	0	0	0	0	1	5704	1136	40	1		1	FBN3	19	8190894	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	360806	8190894	50938089	1286	1286											
KANK3	256949	broad.mit.edu	37	chr19	8389521	8389521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggggtcttacattgtccAggatggcagggtcacagcct	14	9	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:8389521A>G	uc010dwa.2	-	9	2342	c.2276T>C	c.(2275-2277)CTG>CCG	p.L759P		NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	ankyrin repeat domain 47	759											0						TACATTGTCCAGGATGGCAGG	0.632													G	8389521	A	G	8389521	3	3	1	1	0	0	0	0	1	0	0	0	7978	188	7	3	201	3	KANK3	19	8389521	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	198627	8389521	50739462	1287	1287											
PRAM1	84106	broad.mit.edu	37	chr19	8555592	8555592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccccgcgacgtgtcttagCgttggggtcgatcatcatct	11	13	4	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:8555592C>T	uc002mkd.2	-	7	1812	c.1792G>A	c.(1792-1794)GCT>ACT	p.A598T	PRAM1_uc002mkc.2_Missense_Mutation_p.A597T	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	646	SH3.						lipid binding|protein binding				0						CGTGTCTTAGCGTTGGGGTCG	0.622													T	8555592	C	T	8555592	3	4	1	1	0	0	0	0	1	0	0	0	12423	768	27	1	236	1	PRAM1	19	8555592	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	166071	8555592	50573391	1288	1288											
MUC16	94025	broad.mit.edu	37	chr19	9056251	9056251	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgctctctgtcattctggTatccaaaatgggtgatgaag	10	8	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:9056251T>C	uc002mkp.2	-	3	31399	c.31195A>G	c.(31195-31197)ACC>GCC	p.T10399A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10401	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTCATTCTGGTATCCAAAATG	0.493													C	9056251	T	C	9056251	3	2	1	1	0	0	0	0	1	0	0	0	9973	1638	57	3	12656	3	MUC16	19	9056251	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	500659	9056251	50072732	1289	1289											
MUC16	94025	broad.mit.edu	37	chr19	9063262	9063262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtccagaactggaggtccCcacatcggtcactgttctgt	10	12	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:9063262C>T	uc002mkp.2	-	3	24388	c.24184G>A	c.(24184-24186)GGG>AGG	p.G8062R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8064	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTGGAGGTCCCCACATCGGTC	0.463													T	9063262	C	T	9063262	3	4	1	1	0	0	0	0	1	0	0	0	9973	623	22	4	19667	4	MUC16	19	9063262	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	7011	9063262	50065721	1290	1290											
MUC16	94025	broad.mit.edu	37	chr19	9070331	9070331	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgcatggcttctgtgtgCgcagtgtctttgtaagtggt	14	7	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:9070331C>T	uc002mkp.2	-	3	17319	c.17115G>A	c.(17113-17115)GCG>GCA	p.A5705A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5707	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTTCTGTGTGCGCAGTGTCTT	0.507													T	9070331	C	T	9070331	2	4	1	1	0	0	0	0	0	0	0	1	9973	755	27	1		1	MUC16	19	9070331	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	7069	9070331	50058652	1291	1291											
ZNF177	7730	broad.mit.edu	37	chr19	9490791	9490791	+	Frame_Shift_Del	DEL	A	A	-													atgcagaacattcctgggggAaaaacatccaatggcataaa							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:9490790_9490790GA>G	uc021uon.1	+	4	472	c.311_311GA>G	c.(310-312)ggafs	p.G104fs	ZNF177_uc002mli.3_Frame_Shift_Del_p.G104fs|ZNF177_uc002mlj.3_Frame_Shift_Del_p.G104fs|ZNF177_uc002mlk.3_Frame_Shift_Del_p.G104fs	NM_001172651	NP_001166122	Q13360	ZN177_HUMAN	Homo sapiens zinc finger protein 177 (ZNF177), transcript variant 1, mRNA.	104					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						ATTCCTGGGGGAAAAACATCC	0.373													-	9490791	A	-	9490791	7	5	1	1	0	1	0	1	0	0	0	0	17743	233	9	0	326	0	ZNF177	19	9490791	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	420460	9490791	49638192	1292	1292											
COL5A3	50509	broad.mit.edu	37	chr19	10090070	10090070	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacaccagctggtccaggCgggcctgtctgaccttggaa	13	12	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:10090070C>T	uc002mmq.1	-	38	2822	c.2736G>A	c.(2734-2736)CCG>CCA	p.P912P		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	912	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			CTGGTCCAGGCGGGCCTGTCT	0.542													T	10090070	C	T	10090070	2	4	1	1	0	0	0	0	0	0	0	1	3698	755	27	1		1	COL5A3	19	10090070	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	599279	10090070	49038913	1293	1293											
KRI1	65095	broad.mit.edu	37	chr19	10665838	10665838	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggctgtacgcccgcttgTcccgcagctcctcctgctct	9	18	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:10665838T>C	uc002moy.1	-	18	1733	c.1724A>G	c.(1723-1725)GAC>GGC	p.D575G	KRI1_uc002mow.1_Missense_Mutation_p.D194G|KRI1_uc002mox.1_Missense_Mutation_p.D571G	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	575										ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CGCCCGCTTGTCCCGCAGCTC	0.527													C	10665838	T	C	10665838	3	2	1	1	0	0	0	0	1	0	0	0	8444	1667	58	3	413	3	KRI1	19	10665838	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	575768	10665838	48463145	1294	1294											
AP1M2	10053	broad.mit.edu	37	chr19	10692430	10692430	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggtccactcactcctgcAggatcttgctgtcggtggtc	13	12	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:10692430A>G	uc002mpc.2	-	4	476	c.392T>C	c.(391-393)CTG>CCG	p.L131P	AP1M2_uc002mpd.2_Missense_Mutation_p.L131P	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	131					cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			ovary(2)	2			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			TCACTCCTGCAGGATCTTGCT	0.602													G	10692430	A	G	10692430	3	3	1	1	0	0	0	0	1	0	0	0	735	188	7	3	915	3	AP1M2	19	10692430	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	26592	10692430	48436553	1295	1295											
SMARCA4	6597	broad.mit.edu	37	chr19	11132513	11132513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccgccgcctgctgctgaCgggcacaccgctgcagaaca	11	18	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:11132513C>T	uc002mqf.3	+	19	3013	c.2729C>T	c.(2728-2730)ACG>ATG	p.T910M	SMARCA4_uc010dxp.2_Missense_Mutation_p.T910M|SMARCA4_uc010dxo.2_Missense_Mutation_p.T910M|SMARCA4_uc002mqg.1_Missense_Mutation_p.T910M|SMARCA4_uc010dxq.2_Missense_Mutation_p.T910M|SMARCA4_uc010dxr.2_Missense_Mutation_p.T910M|SMARCA4_uc002mqj.3_Missense_Mutation_p.T910M|SMARCA4_uc010dxs.2_Missense_Mutation_p.T910M|SMARCA4_uc010dxt.1_Missense_Mutation_p.T130M|SMARCA4_uc002mqh.3_Missense_Mutation_p.T33M|SMARCA4_uc002mqi.1_Missense_Mutation_p.T113M	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	910	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.T910M(1)|p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGCTGCTGACGGGCACACCG	0.592			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				T	11132513	C	T	11132513	3	4	1	1	0	0	0	0	1	0	0	0	14770	536	19	1	2799	1	SMARCA4	19	11132513	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	440083	11132513	47996470	1296	1296											
DOCK6	57572	broad.mit.edu	37	chr19	11348926	11348926	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacagcaaggttgcgcacGgagccctggcggctgctgaa	15	13	0	1	rs117437635	by1000genomes	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:11348926G>A	uc002mqs.3	-	15	1739	c.1698C>T	c.(1696-1698)TCC>TCT	p.S566S	DOCK6_uc010xlq.1_5'Flank|LOC55908_uc010dxw.2_Intron|LOC55908_uc010dxx.2_Silent_p.T36T	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	566	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						GGTTGCGCACGGAGCCCTGGC	0.662													A	11348926	G	A	11348926	2	1	1	1	0	0	0	0	0	0	0	1	4691	1103	39	1		1	DOCK6	19	11348926	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	216413	11348926	47780057	1297	1297											
ZNF442	79973	broad.mit.edu	37	chr19	12461253	12461253	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgagataacgctttcccAcactgcttgcattcataggg	9	10	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:12461253A>G	uc002mtr.1	-	6	1757	c.1146T>C	c.(1144-1146)TGT>TGC	p.C382C	ZNF442_uc010xmk.1_Silent_p.C313C	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	382	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|breast(1)|kidney(1)	4						ACGCTTTCCCACACTGCTTGC	0.413													G	12461253	A	G	12461253	2	3	1	1	0	0	0	0	0	0	0	1	17912	157	6	3		3	ZNF442	19	12461253	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1112327	12461253	46667730	1298	1298											
MAN2B1	4125	broad.mit.edu	37	chr19	12776537	12776537	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccataaaagtactggtccAcggttttgagccagcccacg	9	12	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:12776537A>G	uc002mub.2	-	2	318	c.242T>C	c.(241-243)GTG>GCG	p.V81A	MAN2B1_uc010dyv.1_Missense_Mutation_p.V81A|WDR83_uc002mue.3_5'Flank|WDR83_uc002muc.2_5'Flank	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	81					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						GTACTGGTCCACGGTTTTGAG	0.577													G	12776537	A	G	12776537	3	3	1	1	0	0	0	0	1	0	0	0	9216	159	6	3	2885	3	MAN2B1	19	12776537	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	315284	12776537	46352446	1299	1299											
DHPS	1725	broad.mit.edu	37	chr19	12792443	12792443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtggtgccgaaggcctcCagcagtgcgcggtaattcac	14	13	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:12792443C>T	uc002muh.1	-	1	235	c.138G>A	c.(136-138)CTG>CTA	p.L46L	DHPS_uc002muf.1_5'Flank|DHPS_uc002mug.1_5'Flank|DHPS_uc002mui.1_Silent_p.L46L|DHPS_uc002muj.1_Silent_p.L46L|DHPS_uc002muk.1_RNA|DHPS_uc010xmn.1_RNA	NM_001930	NP_001921	P49366	DHYS_HUMAN	deoxyhypusine synthase isoform a	46					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)	1					Sulfadoxine(DB01299)	CGAAGGCCTCCAGCAGTGCGC	0.637													T	12792443	C	T	12792443	2	4	1	1	0	0	0	0	0	0	0	1	4485	581	21	4		4	DHPS	19	12792443	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	15906	12792443	46336540	1300	1300											
BRD4	23476	broad.mit.edu	37	chr19	15350213	15350213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcccaacctttttgggcGcaactggagtcttcggctcc	9	15	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:15350213G>A	uc002nar.2	-	17	3788	c.3566C>T	c.(3565-3567)GCG>GTG	p.A1189V		NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	1189					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)			CTTTTTGGGCGCAACTGGAGT	0.627			T	NUT|C15orf55	lethal midline carcinoma of young people								A	15350213	G	A	15350213	3	1	1	1	0	0	0	0	1	0	0	0	1504	1087	38	1	538	1	BRD4	19	15350213	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2557770	15350213	43778770	1301	1301											
CYP4F11	57834	broad.mit.edu	37	chr19	16038108	16038108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgtcaacatccgacggtGgcggctccacttgtcaccac	11	15	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:16038108G>A	uc002nbu.2	-	5	475	c.439C>T	c.(439-441)CAC>TAC	p.H147Y	CYP4F11_uc010eab.1_Missense_Mutation_p.H147Y|CYP4F11_uc002nbt.2_Missense_Mutation_p.H147Y	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	147					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1						ATCCGACGGTGGCGGCTCCAC	0.527													A	16038108	G	A	16038108	3	1	1	1	0	0	0	0	1	0	0	0	4186	1348	47	4	1171	4	CYP4F11	19	16038108	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	687895	16038108	43090875	1302	1302											
TMEM38A	79041	broad.mit.edu	37	chr19	16790827	16790827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccggcgccaccccatcGcgtcctggctgtgcgccatg	12	18	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:16790827G>A	uc002nes.2	+	2	248	c.157G>A	c.(157-159)GCG>ACG	p.A53T		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	53	Helical; (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	p.A53V(1)		central_nervous_system(2)|ovary(1)	3						CCACCCCATCGCGTCCTGGCT	0.602													A	16790827	G	A	16790827	3	1	1	1	0	0	0	0	1	0	0	0	16156	1087	38	1	163	1	TMEM38A	19	16790827	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	752719	16790827	42338156	1303	1303											
MYO9B	4650	broad.mit.edu	37	chr19	17311596	17311596	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttccgccagatcaccaaCgccaatgagctcaagtacct	8	14	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:17311596C>T	uc010eak.2	+	26	4673	c.4521C>T	c.(4519-4521)AAC>AAT	p.N1507N	MYO9B_uc002nfi.2_Silent_p.N1507N|MYO9B_uc002nfj.1_Silent_p.N1507N|MYO9B_uc002nfl.1_Silent_p.N56N	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	1507	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						AGATCACCAACGCCAATGAGC	0.567													T	17311596	C	T	17311596	2	4	1	1	0	0	0	0	0	0	0	1	10085	535	19	1		1	MYO9B	19	17311596	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	520769	17311596	41817387	1304	1304											
ARRDC2	27106	broad.mit.edu	37	chr19	18121388	18121388	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctcgcttccagctcctccTgagtactcggaggtggtagc	11	14	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:18121388T>C	uc002nhv.2	+	7	1163	c.1020T>C	c.(1018-1020)CCT>CCC	p.P340P	ARRDC2_uc002nhu.2_Silent_p.P335P	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2 isoform 1	340										pancreas(1)	1						CAGCTCCTCCTGAGTACTCGG	0.657													C	18121388	T	C	18121388	2	2	1	1	0	0	0	0	0	0	0	1	983	1567	55	3		3	ARRDC2	19	18121388	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	809792	18121388	41007595	1305	1305											
IL12RB1	3594	broad.mit.edu	37	chr19	18187108	18187108	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttactattattattctcaccAgtatcatcatcctgaggtcc	4	11	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:18187108A>G	uc002nhw.1	-	6	643	c.579T>C	c.(577-579)ACT>ACC	p.T193T	IL12RB1_uc010xqb.1_Silent_p.T193T|IL12RB1_uc002nhx.1_Silent_p.T233T|IL12RB1_uc002nhy.2_Silent_p.T193T	NM_005535	NP_005526	P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1 isoform 1	193	Extracellular (Potential).|Fibronectin type-III 2.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			pancreas(1)	1						TATTCTCACCAGTATCATCAT	0.254													G	18187108	A	G	18187108	2	3	1	1	0	0	0	0	0	0	0	1	7626	202	7	3		3	IL12RB1	19	18187108	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	65720	18187108	40941875	1306	1306											
DDX49	54555	broad.mit.edu	37	chr19	19033456	19033456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagcgctacctgctggtgCctgagaaggtcaaggacgcc	13	13	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:19033456C>T	uc002nkq.1	+	6	736	c.679C>T	c.(679-681)CCT>TCT	p.P227S	HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkr.1_RNA|DDX49_uc002nks.1_Missense_Mutation_p.P120S|DDX49_uc002nkt.1_Missense_Mutation_p.P109S	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	227	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			Epithelial(12;0.0289)			CCTGCTGGTGCCTGAGAAGGT	0.597													T	19033456	C	T	19033456	3	4	1	1	0	0	0	0	1	0	0	0	4366	739	26	2	701	2	DDX49	19	19033456	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	846348	19033456	40095527	1307	1307											
RFXANK	8625	broad.mit.edu	37	chr19	19310005	19310005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagccgactctggctacaCcccgatggaccttgccgtgg	12	15	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:19310005C>T	uc002nls.2	+	9	1179	c.674C>T	c.(673-675)ACC>ATC	p.T225I	RFXANK_uc002nlt.2_Missense_Mutation_p.T202I|RFXANK_uc002nlu.2_Missense_Mutation_p.T203I|RFXANK_uc002nlv.2_Missense_Mutation_p.T225I|RFXANK_uc002nlw.2_Missense_Mutation_p.T224I	NM_003721	NP_003712	O14593	RFXK_HUMAN	regulatory factor X-associated	225	ANK 5.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(2)	2			Epithelial(12;0.00228)			TCTGGCTACACCCCGATGGAC	0.647													T	19310005	C	T	19310005	3	4	1	1	0	0	0	0	1	0	0	0	13269	507	18	4	700	4	RFXANK	19	19310005	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	276549	19310005	39818978	1308	1308											
ZNF626	199777	broad.mit.edu	37	chr19	20829108	20829108	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaccaggttactgtagTtctctaacatcacattccta	7	10	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:20829108T>C	uc002npb.1	-	2	257	c.107A>G	c.(106-108)AAC>AGC	p.N36S	ZNF626_uc002npc.1_Intron|ZNF626_uc002npd.1_Missense_Mutation_p.N36S	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						GTTACTGTAGTTCTCTAACAT	0.353													C	20829108	T	C	20829108	3	2	1	1	0	0	0	0	1	0	0	0	18047	1725	60	3	1548	3	ZNF626	19	20829108	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1519103	20829108	38299875	1309	1309											
ZNF257	113835	broad.mit.edu	37	chr19	22271691	22271691	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtgaagagtgtggaaaagCctttaaccggtcttcacacc	10	9	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:22271691C>A	uc010ecx.2	+	4	1308	c.1139C>A	c.(1138-1140)GCC>GAC	p.A380D	ZNF257_uc010ecy.2_Missense_Mutation_p.A348D	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	380	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTGGAAAAGCCTTTAACCGG	0.378													A	22271691	C	A	22271691	3	1	1	1	0	0	0	0	1	0	0	0	17797	739	26	5	1153	5	ZNF257	19	22271691	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1442583	22271691	36857292	1310	1310											
ZNF91	7644	broad.mit.edu	37	chr19	23557475	23557475	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtagttctctaacatcAcattcctatataaattctgc	3	10	4	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:23557475A>C	uc002nre.2	-	2	235	c.122T>G	c.(121-123)GTG>GGG	p.V41G	ZNF91_uc010xrj.1_Missense_Mutation_p.V41G	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	41	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CTCTAACATCACATTCCTATA	0.363													C	23557475	A	C	23557475	3	2	1	1	0	0	0	0	1	0	0	0	18197	159	6	5	3465	5	ZNF91	19	23557475	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1285784	23557475	35571508	1311	1311											
ZNF681	148213	broad.mit.edu	37	chr19	23938230	23938230	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgaagttatcctcacccaAgaagaccaggtttctgtagt	8	9	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:23938230A>C	uc002nrk.3	-	2	269	c.127T>G	c.(127-129)TTG>GTG	p.L43V	ZNF681_uc002nrl.3_Intron|ZNF681_uc002nrj.3_Intron|ZNF681_uc002nrm.1_5'Flank	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TCCTCACCCAAGAAGACCAGG	0.348													C	23938230	A	C	23938230	3	2	1	1	0	0	0	0	1	0	0	0	18085	69	3	5	1822	5	ZNF681	19	23938230	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	380755	23938230	35190753	1312	1312											
TSHZ3	57616	broad.mit.edu	37	chr19	31768228	31768228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacggcagatgtctttgccGttgtcaccgtggatgaggag	15	9	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:31768228G>A	uc002nsy.3	-	2	2536	c.2471C>T	c.(2470-2472)ACG>ATG	p.T824M		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	824					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					TGTCTTTGCCGTTGTCACCGT	0.522													A	31768228	G	A	31768228	3	1	1	1	0	0	0	0	1	0	0	0	16622	1145	40	1	778	1	TSHZ3	19	31768228	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	7829998	31768228	27360755	1313	1313											
MAG	4099	broad.mit.edu	37	chr19	35786830	35786830	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtactacttccgtggggacCtgggcggctacaaccagtac	12	12	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:35786830C>A	uc002nyy.1	+	4	510	c.361C>A	c.(361-363)CTG>ATG	p.L121M	MAG_uc002nyx.1_Missense_Mutation_p.L121M|MAG_uc010eds.1_Missense_Mutation_p.L96M|MAG_uc002nyz.1_Missense_Mutation_p.L121M	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	121	Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCGTGGGGACCTGGGCGGCTA	0.667													A	35786830	C	A	35786830	3	1	1	1	0	0	0	0	1	0	0	0	9162	680	24	5	367	5	MAG	19	35786830	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	4018602	35786830	23342153	1314	1314											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572756	38572756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagtgtgacgcggaggacgCgggggagccgcggggggccc	23	11	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:38572756C>T	uc002ohk.2	+	3	1060	c.551C>T	c.(550-552)GCG>GTG	p.A184V		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	184					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCGGAGGACGCGGGGGAGCCG	0.741													T	38572756	C	T	38572756	3	4	1	1	0	0	0	0	1	0	0	0	14331	768	27	1	553	1	SIPA1L3	19	38572756	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2785926	38572756	20556227	1315	1315											
SUPT5H	6829	broad.mit.edu	37	chr19	39949688	39949688	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtattacatgaagaaaTacgccaagtcatctgtggga	11	7	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:39949688T>C	uc002olo.3	+	7	612	c.433T>C	c.(433-435)TAC>CAC	p.Y145H	SUPT5H_uc002olp.3_Missense_Mutation_p.Y145H|SUPT5H_uc002olq.3_Missense_Mutation_p.Y141H|SUPT5H_uc002oln.3_Missense_Mutation_p.Y145H|SUPT5H_uc002olr.3_Missense_Mutation_p.Y145H	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	145					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CATGAAGAAATACGCCAAGTC	0.582													C	39949688	T	C	39949688	3	2	1	1	0	0	0	0	1	0	0	0	15396	1406	49	3	455	3	SUPT5H	19	39949688	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1376932	39949688	19179295	1316	1316											
SPTBN4	57731	broad.mit.edu	37	chr19	41063263	41063263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgccagttccatgcagcGgaccctgagagcctttgagc	12	13	0	2	rs145142511		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:41063263G>A	uc002ony.2	+	26	5710	c.5624G>A	c.(5623-5625)CGG>CAG	p.R1875Q	SPTBN4_uc002onx.2_Missense_Mutation_p.R1875Q|SPTBN4_uc002onz.2_Missense_Mutation_p.R1875Q|SPTBN4_uc010egx.2_Missense_Mutation_p.R618Q|SPTBN4_uc002ooa.2_Missense_Mutation_p.R551Q	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1875	Spectrin 16.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCATGCAGCGGACCCTGAGA	0.682													A	41063263	G	A	41063263	3	1	1	1	0	0	0	0	1	0	0	0	15120	1116	39	1	5722	1	SPTBN4	19	41063263	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1113575	41063263	18065720	1317	1317											
ADCK4	79934	broad.mit.edu	37	chr19	41198161	41198161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccggtgccgcagcagcaCcgggatgaggtcctgtatgc	15	13	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:41198161C>T	uc002oor.2	-	15	1716	c.1414G>A	c.(1414-1416)GTG>ATG	p.V472M	NUMBL_uc010xvq.1_5'Flank|NUMBL_uc002oon.2_5'Flank|NUMBL_uc002ooo.2_5'Flank|NUMBL_uc010xvr.1_5'Flank|ADCK4_uc002oop.1_Missense_Mutation_p.V149M|ADCK4_uc002ooq.1_Missense_Mutation_p.V431M	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4 isoform a	472						integral to membrane	protein serine/threonine kinase activity				0			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CGCAGCAGCACCGGGATGAGG	0.677													T	41198161	C	T	41198161	3	4	1	1	0	0	0	0	1	0	0	0	290	507	18	4	224	4	ADCK4	19	41198161	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	134898	41198161	17930822	1318	1318											
ATP1A3	478	broad.mit.edu	37	chr19	42492227	42492227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccactctggggtggtaggcGgtggcgtgagtgcgttaggc	19	9	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:42492227G>A	uc002osg.2	-	4	372	c.218C>T	c.(217-219)CCG>CTG	p.P73L	ATP1A3_uc010xwf.1_Missense_Mutation_p.P84L|ATP1A3_uc010xwg.1_Missense_Mutation_p.P43L|ATP1A3_uc010xwh.1_Missense_Mutation_p.P86L|ATP1A3_uc002osh.2_Missense_Mutation_p.P73L	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	73	Interaction with phosphoinositide-3 kinase (By similarity).|Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						GGTGGTAGGCGGTGGCGTGAG	0.627													A	42492227	G	A	42492227	3	1	1	1	0	0	0	0	1	0	0	0	1130	1116	39	1	2903	1	ATP1A3	19	42492227	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1294066	42492227	16636756	1319	1319											
CD177	57126	broad.mit.edu	37	chr19	43866319	43866319	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgaaccacaccagacaaatCgggatcttctctgcgcgtga	9	12	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:43866319C>T	uc002owi.2	+	10	1203	c.1161C>T	c.(1159-1161)ATC>ATT	p.I387I	CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	CD177 molecule precursor	387					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)	1		Prostate(69;0.00682)				CCAGACAAATCGGGATCTTCT	0.587													T	43866319	C	T	43866319	2	4	1	1	0	0	0	0	0	0	0	1	2971	874	31	1		1	CD177	19	43866319	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1374092	43866319	15262664	1320	1320											
TEX101	83639	broad.mit.edu	37	chr19	43920324	43920324	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagccaatatgtttaactgGaccacagaggaagtggagac	11	9	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:43920324G>A	uc010xwo.1	+	3	333	c.138G>A	c.(136-138)TGG>TGA	p.W46*	TEX101_uc002owk.2_Nonsense_Mutation_p.W64*	NM_001130011	NP_001123483	Q9BY14	TX101_HUMAN	testis expressed 101 isoform 2	46						anchored to membrane|plasma membrane				ovary(1)	1		Prostate(69;0.0199)				TGTTTAACTGGACCACAGAGG	0.463													A	43920324	G	A	43920324	4	1	1	1	0	0	0	0	0	1	0	0	15770	1183	41	4	202	4	TEX101	19	43920324	Nonsense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	54005	43920324	15208659	1321	1321											
ZNF404	342908	broad.mit.edu	37	chr19	44377018	44377018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaattagttgagaattaaGtctaaaggtttttccacatt	6	4	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:44377018G>A	uc002oxs.3	-	2	1348	c.1339C>T	c.(1339-1341)CTT>TTT	p.L447F		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	zinc finger protein 404	450	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TGAGAATTAAGTCTAAAGGTT	0.378													A	44377018	G	A	44377018	3	1	1	1	0	0	0	0	1	0	0	0	17883	1029	36	4	314	4	ZNF404	19	44377018	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	456694	44377018	14751965	1322	1322											
ZNF155	7711	broad.mit.edu	37	chr19	44495769	44495769	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggctgctggaccctgccCagaggaagctgtaccgagat	15	11	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:44495769C>T	uc002oxy.1	+	3	290	c.85C>T	c.(85-87)CAG>TAG	p.Q29*	ZNF155_uc002oxz.1_Nonsense_Mutation_p.Q29*|ZNF155_uc010xwt.1_Nonsense_Mutation_p.Q40*	NM_003445	NP_003436	Q12901	ZN155_HUMAN	zinc finger protein 155	29	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Prostate(69;0.0352)				GGACCCTGCCCAGAGGAAGCT	0.532													T	44495769	C	T	44495769	4	4	1	1	0	0	0	0	0	1	0	0	17733	595	21	4	91	4	ZNF155	19	44495769	Nonsense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	118751	44495769	14633214	1323	1323											
RELB	5971	broad.mit.edu	37	chr19	45525310	45525310	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggacttctcttcctgcaGctccgggattgtggagggct	14	10	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:45525310G>A	uc002paj.1	+	6	631	c.505_splice	c.e6-1	p.L169_splice		NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B							nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TCTTCCTGCAGCTCCGGGATT	0.637													A	45525310	G	A	45525310	5	1	1	1	0	0	0	0	0	0	1	0	13217	985	34	2	514	2	RELB	19	45525310	Splice_Site	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1029541	45525310	13603673	1324	1324											
MARK4	57787	broad.mit.edu	37	chr19	45797677	45797677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacgcccgggggctgagcGcccgtcactgttgccaaatg	14	13	1	2	rs146014354		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:45797677G>A	uc002pbb.1	+	14	1570	c.1565G>A	c.(1564-1566)CGC>CAC	p.R522H	MARK4_uc002pba.1_Missense_Mutation_p.R522H			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;	522					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGGGCTGAGCGCCCGTCACTG	0.587													A	45797677	G	A	45797677	3	1	1	1	0	0	0	0	1	0	0	0	9315	1087	38	1	1619	1	MARK4	19	45797677	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	272367	45797677	13331306	1325	1325											
PPP1R13L	10848	broad.mit.edu	37	chr19	45901550	45901550	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgtccagaaagtcccgCgcgctctggaatgcctcgct	10	14	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:45901550C>T	uc002pbn.2	-	2	104	c.27G>A	c.(25-27)GCG>GCA	p.A9A	PPP1R13L_uc002pbo.2_Silent_p.A9A|PPP1R13L_uc002pbp.2_Silent_p.A9A	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	9					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GAAAGTCCCGCGCGCTCTGGA	0.711													T	45901550	C	T	45901550	2	4	1	1	0	0	0	0	0	0	0	1	12358	755	27	1		1	PPP1R13L	19	45901550	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	103873	45901550	13227433	1326	1326											
RTN2	6253	broad.mit.edu	37	chr19	45997881	45997881	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagagtcctccccggatccCgttccccgggccacccagcc	10	20	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:45997881C>A	uc002pcb.2	-	3	690	c.462G>T	c.(460-462)ACG>ACT	p.T154T	RTN2_uc002pcc.2_Silent_p.T154T|RTN2_uc002pcd.2_RNA	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	154						integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CCCCGGATCCCGTTCCCCGGG	0.642													A	45997881	C	A	45997881	2	1	1	1	0	0	0	0	0	0	0	1	13726	639	23	5		5	RTN2	19	45997881	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	96331	45997881	13131102	1327	1327											
FBXO46	23403	broad.mit.edu	37	chr19	46216164	46216164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggacacaaagactacaggcGctggggtggtcggtcgtggg	18	9	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:46216164G>A	uc002pcy.2	-	2	715	c.590C>T	c.(589-591)GCG>GTG	p.A197V	FBXO46_uc002pcz.2_Missense_Mutation_p.A197V	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	197							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GACTACAGGCGCTGGGGTGGT	0.687													A	46216164	G	A	46216164	3	1	1	1	0	0	0	0	1	0	0	0	5755	1087	38	1	1225	1	FBXO46	19	46216164	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	218283	46216164	12912819	1328	1328											
FOXA3	3171	broad.mit.edu	37	chr19	46375420	46375420	+	Frame_Shift_Del	DEL	G	G	-													taagctctccctatccccctGgggggctccctgcctcccca							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:46375419_46375419TG>T	uc002pdr.3	+	1	353	c.156_156TG>T	c.(154-156)cctfs	p.P52fs		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	52				Missing (in Ref. 1; AAA58477).	brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CCTATCCCCCTGGGGGGCTCC	0.672													-	46375420	G	-	46375420	7	5	1	1	0	1	0	1	0	0	0	0	5991	1348	47	0	163	0	FOXA3	19	46375420	Frame_Shift_Del	DEL	G	TCGA-B7-5816-01A-21D-1600-08	159256	46375420	12753563	1329	1329											
PGLYRP1	8993	broad.mit.edu	37	chr19	46522784	46522784	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggctggacagtcactcacCcatgtagttgcccatgaagc	10	13	2	1	rs143499039	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:46522784C>A	uc002pdx.1	-	2	453	c.409G>T	c.(409-411)GAT>TAT	p.D137Y		NM_005091	NP_005082	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1 precursor	137					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(2)	2		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		AGTCACTCACCCATGTAGTTG	0.602													A	46522784	C	A	46522784	3	1	1	1	0	0	0	0	1	0	0	0	11793	637	22	5	189	5	PGLYRP1	19	46522784	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	147364	46522784	12606199	1330	1330											
PNMAL2	57469	broad.mit.edu	37	chr19	46997605	46997605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acatgacggacaagacctgtCggagggggtctcgcttgtct	14	10	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:46997605C>T	uc002pes.2	-	1	1565	c.1118G>A	c.(1117-1119)CGA>CAA	p.R373Q	uc002peu.1_5'Flank	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	373										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CAAGACCTGTCGGAGGGGGTC	0.647													T	46997605	C	T	46997605	3	4	1	1	0	0	0	0	1	0	0	0	12158	884	31	1	793	1	PNMAL2	19	46997605	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	474821	46997605	12131378	1331	1331											
PPFIA3	8541	broad.mit.edu	37	chr19	49643262	49643262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagcccccaagaagaagaGcatcaagtcatccataggcc	8	13	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:49643262G>A	uc002pmr.2	+	18	2617	c.2285G>A	c.(2284-2286)AGC>AAC	p.S762N	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.S630N|PPFIA3_uc002pmt.2_5'Flank	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	762						cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		AAGAAGAAGAGCATCAAGTCA	0.552													A	49643262	G	A	49643262	3	1	1	1	0	0	0	0	1	0	0	0	12311	971	34	2	2351	2	PPFIA3	19	49643262	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2645657	49643262	9485721	1332	1332											
TEAD2	8463	broad.mit.edu	37	chr19	49863248	49863248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccccagccccctcactgcCgccggtaccctcctcactgc	6	24	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:49863248C>T	uc002pnj.2	-	2	176	c.85G>A	c.(85-87)GGC>AGC	p.G29S	TEAD2_uc002png.2_Missense_Mutation_p.G29S|TEAD2_uc002pnh.2_Missense_Mutation_p.G29S|TEAD2_uc002pni.2_Missense_Mutation_p.G29S|TEAD2_uc010yao.1_Intron|TEAD2_uc010emw.2_Missense_Mutation_p.G29S	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	29					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		CCCTCACTGCCGCCGGTACCC	0.701													T	49863248	C	T	49863248	3	4	1	1	0	0	0	0	1	0	0	0	15736	652	23	1	1302	1	TEAD2	19	49863248	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	219986	49863248	9265735	1333	1333											
MYH14	79784	broad.mit.edu	37	chr19	50720986	50720986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacgaggtgccaccccacGtgtacgcagtgaccgagggg	15	14	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:50720986G>A	uc002prr.1	+	3	567	c.520G>A	c.(520-522)GTG>ATG	p.V174M	MYH14_uc010enu.1_Missense_Mutation_p.V174M|MYH14_uc002prq.1_Missense_Mutation_p.V174M	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	174	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCCACCCCACGTGTACGCAGT	0.617													A	50720986	G	A	50720986	3	1	1	1	0	0	0	0	1	0	0	0	10033	1145	40	1	526	1	MYH14	19	50720986	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	857738	50720986	8407997	1334	1334											
POLD1	5424	broad.mit.edu	37	chr19	50918172	50918172	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggactgcaagggcctggAggccgtgcgcagggacaact	16	11	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:50918172A>G	uc002psb.3	+	20	2545	c.2489A>G	c.(2488-2490)GAG>GGG	p.E830G	POLD1_uc002psc.3_Missense_Mutation_p.E830G|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.E856G	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	830					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		AAGGGCCTGGAGGCCGTGCGC	0.617								DNA_polymerases_(catalytic_subunits)			OREG0025635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	50918172	A	G	50918172	3	3	1	1	0	0	0	0	1	0	0	0	12190	304	11	3	2563	3	POLD1	19	50918172	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	197186	50918172	8210811	1335	1335											
LRRC4B	94030	broad.mit.edu	37	chr19	51022368	51022368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccagcccctcgaaggccGcctccgagatgtattccagc	10	16	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:51022368G>A	uc002pss.2	-	3	739	c.602C>T	c.(601-603)GCG>GTG	p.A201V		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	201	LRR 5.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CTCGAAGGCCGCCTCCGAGAT	0.657													A	51022368	G	A	51022368	3	1	1	1	0	0	0	0	1	0	0	0	9007	1087	38	1	1543	1	LRRC4B	19	51022368	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	104196	51022368	8106615	1336	1336											
C19orf48	84798	broad.mit.edu	37	chr19	51301392	51301392	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggattctggcctgcttcAcccctggagcaccaggccag	11	16	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:51301392A>G	uc002ptf.2	-	5	1236	c.314T>C	c.(313-315)GTG>GCG	p.V105A	C19orf48_uc002pte.2_RNA|C19orf48_uc002ptg.2_Missense_Mutation_p.V105A	NM_199249	NP_954857	Q6RUI8	CS048_HUMAN	multidrug resistance-related protein	105										ovary(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		GGCCTGCTTCACCCCTGGAGC	0.612													G	51301392	A	G	51301392	3	3	1	1	0	0	0	0	1	0	0	0	1931	159	6	3	43	3	C19orf48	19	51301392	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	279024	51301392	7827591	1337	1337											
SIGLEC8	27181	broad.mit.edu	37	chr19	51958778	51958778	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccctcacgtgcactcgaggCagctccagcagcccagggtt	11	16	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:51958778C>A	uc002pwt.2	-	4	1012	c.945G>T	c.(943-945)CTG>CTT	p.L315L	SIGLEC8_uc010yda.1_Silent_p.L206L|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Silent_p.L222L	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	315	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCACTCGAGGCAGCTCCAGCA	0.632													A	51958778	C	A	51958778	2	1	1	1	0	0	0	0	0	0	0	1	14314	697	25	5		5	SIGLEC8	19	51958778	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	657386	51958778	7170205	1338	1338											
ZNF614	80110	broad.mit.edu	37	chr19	52519952	52519952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgatgagcaattagatagCgcttcattgtaaagcccttt	9	8	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:52519952C>T	uc002pyj.2	-	5	1301	c.899G>A	c.(898-900)CGC>CAC	p.R300H	ZNF614_uc002pyi.3_Intron|ZNF614_uc010epj.2_Missense_Mutation_p.R3H	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	zinc finger protein 614	300	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AATTAGATAGCGCTTCATTGT	0.408													T	52519952	C	T	52519952	3	4	1	1	0	0	0	0	1	0	0	0	18036	768	27	1	862	1	ZNF614	19	52519952	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	561174	52519952	6609031	1339	1339											
ZNF528	84436	broad.mit.edu	37	chr19	52919773	52919773	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgtagtaaatgtggcaaAgcatttcgagggtgttcagg	14	4	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:52919773A>C	uc002pzh.2	+	7	2094	c.1668A>C	c.(1666-1668)AAA>AAC	p.K556N	ZNF528_uc002pzi.2_Missense_Mutation_p.K323N	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	556	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AATGTGGCAAAGCATTTCGAG	0.398													C	52919773	A	C	52919773	3	2	1	1	0	0	0	0	1	0	0	0	17966	69	3	5	1682	5	ZNF528	19	52919773	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	399821	52919773	6209210	1340	1340											
ZNF761	388561	broad.mit.edu	37	chr19	53959611	53959611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggcaagaccttcagtcGgacgtcatcccttacatgcc	10	13	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:53959611G>A	uc010eqp.2	+	7	2308	c.1850G>A	c.(1849-1851)CGG>CAG	p.R617Q	ZNF761_uc010ydy.1_Missense_Mutation_p.R563Q|ZNF761_uc002qbt.1_Missense_Mutation_p.R563Q	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	617	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		ACCTTCAGTCGGACGTCATCC	0.393													A	53959611	G	A	53959611	3	1	1	1	0	0	0	0	1	0	0	0	18133	1116	39	1	1861	1	ZNF761	19	53959611	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1039838	53959611	5169372	1341	1341											
LILRA1	11024	broad.mit.edu	37	chr19	55106591	55106591	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acatcaaacccaccctctcaGctctacccagccctgtggtg	6	18	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:55106591G>C	uc002qgh.1	+	5	567	c.385G>C	c.(385-387)GCT>CCT	p.A129P	LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.A129P	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	129	Ig-like C2-type 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		CACCCTCTCAGCTCTACCCAG	0.557													C	55106591	G	C	55106591	3	2	1	1	0	0	0	0	1	0	0	0	8784	971	34	5	399	5	LILRA1	19	55106591	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1146980	55106591	4022392	1342	1342											
NCR1	9437	broad.mit.edu	37	chr19	55420813	55420813	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccaccgagggacatacCgatgttttggctcctataac	9	13	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:55420813C>T	uc002qib.2	+	4	603	c.565C>T	c.(565-567)CGA>TGA	p.R189*	NCR1_uc002qic.2_Nonsense_Mutation_p.R189*|NCR1_uc002qie.2_Nonsense_Mutation_p.R189*|NCR1_uc002qid.2_Nonsense_Mutation_p.R94*|NCR1_uc002qif.2_Nonsense_Mutation_p.R94*|NCR1_uc010esj.2_Nonsense_Mutation_p.R82*	NM_004829	NP_004820	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	189	Extracellular (Potential).|Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(193;0.0449)		AGGGACATACCGATGTTTTGG	0.587													T	55420813	C	T	55420813	4	4	1	1	0	0	0	0	0	1	0	0	10237	644	23	1	579	1	NCR1	19	55420813	Nonsense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	314222	55420813	3708170	1343	1343											
GP6	51206	broad.mit.edu	37	chr19	55530062	55530062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgagacggtcagttcagCggtggcttctgagaattcta	13	7	4	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:55530062C>T	uc002qik.2	-	6	710	c.682G>A	c.(682-684)GCT>ACT	p.A228T	GP6_uc002qil.2_Missense_Mutation_p.A228T|GP6_uc010esq.2_Missense_Mutation_p.A210T	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet) isoform 2	228	Extracellular (Potential).				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		GTCAGTTCAGCGGTGGCTTCT	0.458													T	55530062	C	T	55530062	3	4	1	1	0	0	0	0	1	0	0	0	6584	768	27	1	1192	1	GP6	19	55530062	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	109249	55530062	3598921	1344	1344											
ISOC2	79763	broad.mit.edu	37	chr19	55966630	55966630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggggccctctcacctgCgtgaggagcaggcgtccacc	15	15	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:55966630C>T	uc002qlb.2	-	4	590	c.416G>A	c.(415-417)CGC>CAC	p.R139H	ISOC2_uc002qla.2_Missense_Mutation_p.R155H|ISOC2_uc002qlc.2_Missense_Mutation_p.R69H	NM_001136201	NP_001129673	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2 isoform 1	139					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			ovary(1)	1	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		CTCTCACCTGCGTGAGGAGCA	0.687													T	55966630	C	T	55966630	3	4	1	1	0	0	0	0	1	0	0	0	7863	768	27	1	213	1	ISOC2	19	55966630	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	436568	55966630	3162353	1345	1345											
ZNF524	147807	broad.mit.edu	37	chr19	56114077	56114077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggagcgcccgtaccagtGccccatctgccggctgcgct	15	16	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:56114077G>A	uc002qlk.1	+	2	682	c.599G>A	c.(598-600)TGC>TAC	p.C200Y	FIZ1_uc002qlj.3_5'Flank	NM_153219	NP_694951	Q96C55	ZN524_HUMAN	zinc finger protein 524	200	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCGTACCAGTGCCCCATCTGC	0.726													A	56114077	G	A	56114077	3	1	1	1	0	0	0	0	1	0	0	0	17963	1319	46	2	601	2	ZNF524	19	56114077	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	147447	56114077	3014906	1346	1346											
ZNF784	147808	broad.mit.edu	37	chr19	56133447	56133447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccagtgtgcacgcgctcGtggtctcgcatgtctgagga	14	12	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:56133447G>A	uc002qll.1	-	2	656	c.642C>T	c.(640-642)CAC>CAT	p.H214H	ZNF784_uc010etb.1_RNA	NM_203374	NP_976308	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	214	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GCACGCGCTCGTGGTCTCGCA	0.537													A	56133447	G	A	56133447	2	1	1	1	0	0	0	0	0	0	0	1	18153	1136	40	1		1	ZNF784	19	56133447	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	19370	56133447	2995536	1347	1347											
ZNF787	126208	broad.mit.edu	37	chr19	56600295	56600295	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcgtgcgctggtgccgCgtcagcttggaccagtggct	17	11	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:56600295C>T	uc010eth.1	-	3	365	c.246G>A	c.(244-246)ACG>ACA	p.T82T		NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	82	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GCTGGTGCCGCGTCAGCTTGG	0.507													T	56600295	C	T	56600295	2	4	1	1	0	0	0	0	0	0	0	1	18156	755	27	1		1	ZNF787	19	56600295	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	466848	56600295	2528688	1348	1348											
ZSCAN5A	79149	broad.mit.edu	37	chr19	56733195	56733195	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttctggcagacgtcacAcgtgtagggcctctcgccag	12	14	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:56733195A>G	uc002qmq.2	-	5	1406	c.1240T>C	c.(1240-1242)TGT>CGT	p.C414R	ZSCAN5A_uc010ygi.1_Missense_Mutation_p.C297R|ZSCAN5A_uc002qmr.2_Missense_Mutation_p.C414R|ZSCAN5A_uc002qms.1_Missense_Mutation_p.C413R	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	414	C2H2-type 3.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						CAGACGTCACACGTGTAGGGC	0.507													G	56733195	A	G	56733195	3	3	1	1	0	0	0	0	1	0	0	0	18235	159	6	3	254	3	ZSCAN5A	19	56733195	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	132900	56733195	2395788	1349	1349											
ZNF71	58491	broad.mit.edu	37	chr19	57133549	57133549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaccggggagaagccgtaCgcctgcaaggagtgcggcaa	15	12	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:57133549C>T	uc002qnm.3	+	3	1132	c.894C>T	c.(892-894)TAC>TAT	p.Y298Y		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	298	C2H2-type 7.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		AGAAGCCGTACGCCTGCAAGG	0.667													T	57133549	C	T	57133549	2	4	1	1	0	0	0	0	0	0	0	1	18111	547	19	1		1	ZNF71	19	57133549	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	400354	57133549	1995434	1350	1350											
ZNF71	58491	broad.mit.edu	37	chr19	57133703	57133703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaccagcgcttccacatcGgcgtgaagccgttcgagtgc	12	14	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:57133703G>A	uc002qnm.3	+	3	1286	c.1048G>A	c.(1048-1050)GGC>AGC	p.G350S		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	350						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTTCCACATCGGCGTGAAGCC	0.642													A	57133703	G	A	57133703	3	1	1	1	0	0	0	0	1	0	0	0	18111	1116	39	1	1050	1	ZNF71	19	57133703	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	154	57133703	1995280	1351	1351											
DUXA	503835	broad.mit.edu	37	chr19	57669726	57669726	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gactctggaacaccgatttcTttagcaagttcttctctgga	8	10	4	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:57669726T>G	uc002qoa.1	-	4	453	c.408A>C	c.(406-408)AAA>AAC	p.K136N		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	double homeobox A	136	Homeobox 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		CACCGATTTCTTTAGCAAGTT	0.433													G	57669726	T	G	57669726	3	3	1	1	0	0	0	0	1	0	0	0	4834	1606	56	5	218	5	DUXA	19	57669726	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	536023	57669726	1459257	1352	1352											
ZNF606	80095	broad.mit.edu	37	chr19	58500078	58500078	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccacggccacgtccttgaaGgtcactggttcctaaaagaa	9	12	1	2	rs139860010	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:58500078G>T	uc002qqw.2	-	5	807	c.189C>A	c.(187-189)ACC>ACA	p.T63T	ZNF606_uc010yhp.1_5'UTR	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	63	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CGTCCTTGAAGGTCACTGGTT	0.557													T	58500078	G	T	58500078	2	4	1	1	0	0	0	0	0	0	0	1	18029	987	35	5		5	ZNF606	19	58500078	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	830352	58500078	628905	1353	1353											
ZSCAN18	65982	broad.mit.edu	37	chr19	58600183	58600183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagaattgaggatgagcccGcaggggagcccagcagcatc	14	10	0	3	rs73058515	by1000genomes	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:58600183G>A	uc002qri.2	-	3	734	c.425C>T	c.(424-426)GCG>GTG	p.A142V	ZSCAN18_uc002qrj.3_Missense_Mutation_p.A142V|ZSCAN18_uc010yhs.1_Missense_Mutation_p.A7V|ZSCAN18_uc002qrh.2_Missense_Mutation_p.A142V|ZSCAN18_uc010yht.1_Missense_Mutation_p.A198V|ZSCAN18_uc002qrk.1_Missense_Mutation_p.A142V|ZSCAN18_uc002qrl.2_Missense_Mutation_p.A142V	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	142					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGATGAGCCCGCAGGGGAGCC	0.597													A	58600183	G	A	58600183	3	1	1	1	0	0	0	0	1	0	0	0	18227	1087	38	1	1127	1	ZSCAN18	19	58600183	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	100105	58600183	528800	1354	1354											
TBC1D20	128637	broad.mit.edu	37	chr20	419477	419477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagtctttgaaagtagagGctgccgtcctgcaggggaaa	13	8	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:419477G>A	uc002wds.2	-	8	1103	c.965C>T	c.(964-966)GCC>GTC	p.A322V	TBC1D20_uc002wdv.2_Missense_Mutation_p.A145V|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	322					interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)	1		all_epithelial(17;0.228)|Breast(17;0.231)				GAAAGTAGAGGCTGCCGTCCT	0.552													A	419477	G	A	419477	3	1	1	1	0	0	0	0	1	0	0	0	15606	1203	42	2	250	2	TBC1D20	20	419477	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08		419477	62606043	1355	1355											
STK35	140901	broad.mit.edu	37	chr20	2083828	2083829	+	Frame_Shift_Ins	INS	-	-	C													caagaagatccgctgcgacgINScccccgagaacgtggagctg							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:2083828_2083829insC	uc010gak.2	+	2	709_710	c.709_710insC	c.(709-711)GCCfs	p.A237fs	STK35_uc010zpu.1_Frame_Shift_Ins_p.A104fs|STK35_uc002wfw.3_Frame_Shift_Ins_p.A104fs	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	237	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						CCGCTGCGACGCCCCCGAGAAC	0.683													C	2083829	-	C	2083828	7	5	1	1	0	1	1	0	0	0	0	0	15300	1087	38	0	715	0	STK35	20	2083828	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	1664351	2083828	60941692	1356	1356											
SLC4A11	83959	broad.mit.edu	37	chr20	3210170	3210170	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccccatgcagcccctcacCtcttcttgaattggtagagg	8	15	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:3210170C>A	uc002wig.2	-	13	1838	c.1790G>T	c.(1789-1791)AGC>ATC	p.S597I	SLC4A11_uc010zqe.1_Missense_Mutation_p.S624I|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.S581I	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	597	Membrane (bicarbonate transporter).|Cytoplasmic (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						AGCCCCTCACCTCTTCTTGAA	0.657													A	3210170	C	A	3210170	3	1	1	1	0	0	0	0	1	0	0	0	14652	695	24	5	913	5	SLC4A11	20	3210170	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1126342	3210170	59815350	1357	1357											
CHGB	1114	broad.mit.edu	37	chr20	5904061	5904061	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatcacagaggcaggggagGggagccacgtgcctatttca	14	11	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:5904061G>T	uc002wmg.2	+	4	1577	c.1271G>T	c.(1270-1272)GGG>GTG	p.G424V	CHGB_uc010zqz.1_Missense_Mutation_p.G107V	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	424						extracellular region	hormone activity			breast(3)|skin(2)|ovary(1)	6						GGCAGGGGAGGGGAGCCACGT	0.527													T	5904061	G	T	5904061	3	4	1	1	0	0	0	0	1	0	0	0	3339	1232	43	5	1285	5	CHGB	20	5904061	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2693891	5904061	57121459	1358	1358											
TRMT6	51605	broad.mit.edu	37	chr20	5922653	5922653	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaaatgtcttttcctctgCtcttcttgtctcctctgttt	4	12	7	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:5922653C>T	uc002wmh.1	-	8	1178	c.1056G>A	c.(1054-1056)GAG>GAA	p.E352E	TRMT6_uc010zra.1_Silent_p.E182E|TRMT6_uc010gbn.1_3'UTR	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6	352					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			pancreas(1)	1						TTTTCCTCTGCTCTTCTTGTC	0.448													T	5922653	C	T	5922653	2	4	1	1	0	0	0	0	0	0	0	1	16565	796	28	2		2	TRMT6	20	5922653	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	18592	5922653	57102867	1359	1359											
PLCB1	23236	broad.mit.edu	37	chr20	8745986	8745986	+	Frame_Shift_Del	DEL	A	A	-													ccgctttggaaaagtccgccAaaaaggacagtaagaaaaag							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:8745985_8745985CA>C	uc002wnb.3	+	25	2913	c.2910_2910CA>C	c.(2908-2910)gccfs	p.A970fs	PLCB1_uc010zrb.1_Frame_Shift_Del_p.A869fs|PLCB1_uc002wna.3_Frame_Shift_Del_p.A970fs|PLCB1_uc002wnc.1_Frame_Shift_Del_p.A869fs|PLCB1_uc002wnd.1_Frame_Shift_Del_p.A547fs	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	970					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAAAGTCCGCCAAAAAGGACA	0.328													-	8745986	A	-	8745986	7	5	1	1	0	1	0	1	0	0	0	0	12027	131	5	0	3013	0	PLCB1	20	8745986	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	2823333	8745986	54279534	1360	1360											
PLCB4	5332	broad.mit.edu	37	chr20	9368181	9368181	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataactcatggaaaagcaaTgtgtacagatatccttttta	6	6	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:9368181T>C	uc002wnf.2	+	14	1272	c.1136T>C	c.(1135-1137)ATG>ACG	p.M379T	PLCB4_uc010gbw.1_Missense_Mutation_p.M379T|PLCB4_uc010gbx.2_Missense_Mutation_p.M379T|PLCB4_uc002wne.2_Missense_Mutation_p.M379T|PLCB4_uc002wnh.2_Missense_Mutation_p.M226T	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	379	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			skin(11)|ovary(3)|pancreas(1)	15						GGAAAAGCAATGTGTACAGAT	0.348													C	9368181	T	C	9368181	3	2	1	1	0	0	0	0	1	0	0	0	12030	1464	51	3	1182	3	PLCB4	20	9368181	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	622195	9368181	53657339	1361	1361											
ANKRD5	63926	broad.mit.edu	37	chr20	10019036	10019036	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaagacaagaagcagatagaGaagctgaccaagcttggata	11	6	0	5			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:10019036G>T	uc002wno.2	+	3	480	c.87G>T	c.(85-87)GAG>GAT	p.E29D	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.E29D|ANKRD5_uc010gbz.2_5'UTR	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	29							calcium ion binding			ovary(1)|breast(1)	2						AGCAGATAGAGAAGCTGACCA	0.403													T	10019036	G	T	10019036	3	4	1	1	0	0	0	0	1	0	0	0	676	933	33	5	89	5	ANKRD5	20	10019036	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	650855	10019036	53006484	1362	1362											
SEL1L2	80343	broad.mit.edu	37	chr20	13846098	13846098	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctatatcaccatccttataGgcaaagtaagctgtcaggaa	7	9	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:13846098G>T	uc010gcf.2	-	16	1549	c.1467C>A	c.(1465-1467)GCC>GCA	p.A489A	SEL1L2_uc002woq.3_Silent_p.A350A|SEL1L2_uc010zrl.1_Intron|SEL1L2_uc002wor.2_Intron	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	489	Extracellular (Potential).					integral to membrane	binding			ovary(2)	2						CATCCTTATAGGCAAAGTAAG	0.413													T	13846098	G	T	13846098	2	4	1	1	0	0	0	0	0	0	0	1	14011	987	35	5		5	SEL1L2	20	13846098	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	3827062	13846098	49179422	1363	1363											
MACROD2	140733	broad.mit.edu	37	chr20	15210620	15210620	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagggccaatagccaggggCcatattaatggttcccacaa	11	10	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:15210620C>T	uc002wou.2	+	6	717	c.453C>T	c.(451-453)GGC>GGT	p.G151G	MACROD2_uc002wot.2_Silent_p.G151G|MACROD2_uc002woz.2_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2 isoform 1	151	Macro.										0		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TAGCCAGGGGCCATATTAATG	0.353													T	15210620	C	T	15210620	2	4	1	1	0	0	0	0	0	0	0	1	9146	726	26	2		2	MACROD2	20	15210620	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1364522	15210620	47814900	1364	1364											
CRNKL1	51340	broad.mit.edu	37	chr20	20017972	20017972	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggcagagttcttaccccatCatcagtctggacctttcttc	8	13	5	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:20017972C>T	uc002wrs.2	-	14	2406	c.2374G>A	c.(2374-2376)GAT>AAT	p.D792N		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	792	HAT 16.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3						CTTACCCCATCATCAGTCTGG	0.428													T	20017972	C	T	20017972	3	4	1	1	0	0	0	0	1	0	0	0	3891	826	29	4	180	4	CRNKL1	20	20017972	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	4807352	20017972	43007548	1365	1365											
CST8	10047	broad.mit.edu	37	chr20	23473695	23473695	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgcgccattcaagaaaactCcaagctgaaaagggtaggtg	11	9	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:23473695C>A	uc002wth.1	+	3	689	c.332C>A	c.(331-333)TCC>TAC	p.S111Y		NM_005492	NP_005483	O60676	CST8_HUMAN	cystatin 8 precursor	111						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CAAGAAAACTCCAAGCTGAAA	0.468													A	23473695	C	A	23473695	3	1	1	1	0	0	0	0	1	0	0	0	3978	855	30	5	338	5	CST8	20	23473695	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3455723	23473695	39551825	1366	1366											
CST9L	128821	broad.mit.edu	37	chr20	23548877	23548877	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaattcaagatgtgccCcagtctgtaggcatagtagt	11	9	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:23548877C>A	uc002wtk.3	-	1	510	c.211G>T	c.(211-213)GGG>TGG	p.G71W		NM_080610	NP_542177	Q9H4G1	CST9L_HUMAN	cystatin 9-like precursor	71						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AAGATGTGCCCCAGTCTGTAG	0.532													A	23548877	C	A	23548877	3	1	1	1	0	0	0	0	1	0	0	0	3980	623	22	5	244	5	CST9L	20	23548877	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	75182	23548877	39476643	1367	1367											
PYGB	5834	broad.mit.edu	37	chr20	25261593	25261593	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttggcaccagcacgtggcCgcgctgtttcccggcgatgt	13	13	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:25261593C>T	uc002wup.2	+	11	1357	c.1248C>T	c.(1246-1248)GCC>GCT	p.A416A		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	416					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	AGCACGTGGCCGCGCTGTTTC	0.642													T	25261593	C	T	25261593	2	4	1	1	0	0	0	0	0	0	0	1	12860	639	23	1		1	PYGB	20	25261593	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1712716	25261593	37763927	1368	1368											
PYGB	5834	broad.mit.edu	37	chr20	25274898	25274898	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagccagactgcttcaaggAcatcgtgaacatgctgatgc	12	10	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:25274898A>G	uc002wup.2	+	18	2391	c.2282A>G	c.(2281-2283)GAC>GGC	p.D761G		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	761					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	TGCTTCAAGGACATCGTGAAC	0.507											OREG0025844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	25274898	A	G	25274898	3	3	1	1	0	0	0	0	1	0	0	0	12860	275	10	3	2352	3	PYGB	20	25274898	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	13305	25274898	37750622	1369	1369											
ZNF341	84905	broad.mit.edu	37	chr20	32354675	32354675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggttgggccagcccctgcCgggtgcgccacagccccagg	16	16	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:32354675C>T	uc002wzy.2	+	9	1261	c.1241C>T	c.(1240-1242)CCG>CTG	p.P414L	ZNF341_uc002wzx.2_Missense_Mutation_p.P407L|ZNF341_uc010geq.2_Missense_Mutation_p.P324L|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CAGCCCCTGCCGGGTGCGCCA	0.637													T	32354675	C	T	32354675	3	4	1	1	0	0	0	0	1	0	0	0	17854	652	23	1	1254	1	ZNF341	20	32354675	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	7079777	32354675	30670845	1370	1370											
GDF5	8200	broad.mit.edu	37	chr20	34022311	34022311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggccgagttcttaaagtttCggaagagcttccagatgtcg	13	8	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:34022311C>T	uc002xck.1	-	2	1221	c.902G>A	c.(901-903)CGA>CAA	p.R301Q	GDF5_uc010gfc.1_Missense_Mutation_p.R301Q|uc002xcj.2_Missense_Mutation_p.S241L|GDF5_uc010zvc.1_Missense_Mutation_p.R301Q	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	301					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CTTAAAGTTTCGGAAGAGCTT	0.692													T	34022311	C	T	34022311	3	4	1	1	0	0	0	0	1	0	0	0	6316	884	31	1	607	1	GDF5	20	34022311	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1667636	34022311	29003209	1371	1371											
SLA2	84174	broad.mit.edu	37	chr20	35269703	35269703	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaactcaagcttgggctTggcagagattttcttctgct	12	8	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:35269703T>C	uc002xfv.2	-	2	398	c.36A>G	c.(34-36)CCA>CCG	p.P12P	SLA2_uc002xfu.2_Silent_p.P12P	NM_032214	NP_115590	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2 isoform a	12					antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity				0	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				AGCTTGGGCTTGGCAGAGATT	0.547													C	35269703	T	C	35269703	2	2	1	1	0	0	0	0	0	0	0	1	14364	1799	63	3		3	SLA2	20	35269703	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1247392	35269703	27755817	1372	1372											
TGM2	7052	broad.mit.edu	37	chr20	36789944	36789944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcccggcacaggtcggccGtgtggtggtctcggccattg	15	13	2	0	rs147890243		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:36789944G>A	uc002xhr.2	-	2	168	c.68C>T	c.(67-69)ACG>ATG	p.T23M	TGM2_uc010zvx.1_Missense_Mutation_p.T23M|TGM2_uc010zvy.1_Intron|TGM2_uc002xhs.1_Missense_Mutation_p.T23M|TGM2_uc002xht.2_Missense_Mutation_p.T23M|TGM2_uc002xhu.3_Missense_Mutation_p.T23M	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	23					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CAGGTCGGCCGTGTGGTGGTC	0.612													A	36789944	G	A	36789944	3	1	1	1	0	0	0	0	1	0	0	0	15827	1145	40	1	2075	1	TGM2	20	36789944	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1520241	36789944	26235576	1373	1373											
PLCG1	5335	broad.mit.edu	37	chr20	39794919	39794919	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgacagacaacctcgtcTttgactccctctatgacctc	5	15	3	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:39794919T>G	uc002xjp.1	+	17	2006	c.1885T>G	c.(1885-1887)TTT>GTT	p.F629V	PLCG1_uc002xjo.1_Missense_Mutation_p.F629V|PLCG1_uc010zwe.1_Missense_Mutation_p.F255V|PLCG1_uc010ggf.2_5'UTR	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	629	SH2 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				CAACCTCGTCTTTGACTCCCT	0.562													G	39794919	T	G	39794919	3	3	1	1	0	0	0	0	1	0	0	0	12035	1609	56	5	1951	5	PLCG1	20	39794919	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	3004975	39794919	23230601	1374	1374											
SFRS6	6431	broad.mit.edu	37	chr20	42089677	42089677	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctcaaagtcaagatcaAggtccaggtcgagttccaga	10	11	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:42089677A>G	uc010zwg.1	+	6	1179	c.1009A>G	c.(1009-1011)AGG>GGG	p.R337G	SFRS6_uc002xki.2_Missense_Mutation_p.R208G|SFRS6_uc002xkk.2_Intron	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	arginine/serine-rich splicing factor 6	337	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GTCAAGATCAAGGTCCAGGTC	0.458													G	42089677	A	G	42089677	3	3	1	1	0	0	0	0	1	0	0	0	14181	63	3	3	1031	3	SFRS6	20	42089677	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	2294758	42089677	20935843	1375	1375											
UBE2C	11065	broad.mit.edu	37	chr20	44444242	44444242	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggctacccttacaatgcGcccacagtgaagttcctcac	8	14	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:44444242G>A	uc002xpm.2	+	4	359	c.279G>A	c.(277-279)GCG>GCA	p.A93A	UBE2C_uc002xpl.2_Intron|UBE2C_uc002xpn.2_Silent_p.A54A|UBE2C_uc002xpo.2_Silent_p.A64A|UBE2C_uc002xpp.2_Intron|UBE2C_uc002xpq.2_Silent_p.A54A	NM_007019	NP_008950	O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C isoform 1	93					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization	anaphase-promoting complex|cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity				0		Myeloproliferative disorder(115;0.0122)				CTTACAATGCGCCCACAGTGA	0.522													A	44444242	G	A	44444242	2	1	1	1	0	0	0	0	0	0	0	1	16843	1074	38	1		1	UBE2C	20	44444242	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2354565	44444242	18581278	1376	1376											
ZSWIM3	140831	broad.mit.edu	37	chr20	44505382	44505382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaaatttgtctgcattcGgacccaatcaaacaggaaga	10	8	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:44505382G>A	uc002xqd.2	+	2	388	c.185G>A	c.(184-186)CGG>CAG	p.R62Q	ZSWIM3_uc010zxg.1_Missense_Mutation_p.R56Q	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	62							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				GTCTGCATTCGGACCCAATCA	0.478													A	44505382	G	A	44505382	3	1	1	1	0	0	0	0	1	0	0	0	18239	1116	39	1	191	1	ZSWIM3	20	44505382	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	61140	44505382	18520138	1377	1377											
MMP9	4318	broad.mit.edu	37	chr20	44639177	44639177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattgacgacgcctttgccCgcgccttcgcactgtggagc	12	14	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:44639177C>T	uc002xqz.2	+	3	446	c.427C>T	c.(427-429)CGC>TGC	p.R143C		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	143					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CGCCTTTGCCCGCGCCTTCGC	0.602													T	44639177	C	T	44639177	3	4	1	1	0	0	0	0	1	0	0	0	9669	652	23	1	437	1	MMP9	20	44639177	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	133795	44639177	18386343	1378	1378											
ZMYND8	23613	broad.mit.edu	37	chr20	45874790	45874790	+	Frame_Shift_Del	DEL	T	T	-													gttctttgggttccttcttaTtttttcgaccctcccgccca							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:45874789_45874789AT>A	uc010zxy.1	-	13	2350	c.2268_2268AT>T	c.(2266-2268)aatfs	p.N756fs	ZMYND8_uc010ghq.1_Frame_Shift_Del_p.N406fs|ZMYND8_uc010ghr.1_Frame_Shift_Del_p.N704fs|ZMYND8_uc002xst.1_Frame_Shift_Del_p.N657fs|ZMYND8_uc002xsu.1_Frame_Shift_Del_p.N729fs|ZMYND8_uc002xsv.1_Frame_Shift_Del_p.N657fs|ZMYND8_uc002xsw.1_Frame_Shift_Del_p.N481fs|ZMYND8_uc002xsx.1_Frame_Shift_Del_p.N481fs|ZMYND8_uc002xsy.1_Frame_Shift_Del_p.N704fs|ZMYND8_uc002xsz.1_Frame_Shift_Del_p.N666fs|ZMYND8_uc002xta.1_Frame_Shift_Del_p.N729fs|ZMYND8_uc002xtb.1_Frame_Shift_Del_p.N749fs|ZMYND8_uc002xss.2_Frame_Shift_Del_p.N729fs|ZMYND8_uc010zxz.1_Frame_Shift_Del_p.N724fs|ZMYND8_uc002xtc.1_Frame_Shift_Del_p.N749fs|ZMYND8_uc002xtd.1_Frame_Shift_Del_p.N724fs|ZMYND8_uc002xte.1_Frame_Shift_Del_p.N729fs|ZMYND8_uc010zya.1_Frame_Shift_Del_p.N729fs|ZMYND8_uc002xtf.1_Frame_Shift_Del_p.N749fs|ZMYND8_uc002xtg.3_Frame_Shift_Del_p.N723fs|ZMYND8_uc010ghs.2_Frame_Shift_Del_p.N723fs	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	729							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GTTCCTTCTTATTTTTTCGAC	0.438													-	45874790	T	-	45874790	7	5	1	1	0	1	0	1	0	0	0	0	17708	1493	52	0	1360	0	ZMYND8	20	45874790	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	1235613	45874790	17150730	1379	1379											
ZNFX1	57169	broad.mit.edu	37	chr20	47872372	47872372	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgccagcgagaactgaggTccagctgccaaacatcctcg	11	14	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:47872372T>C	uc002xui.2	-	9	3024	c.2777A>G	c.(2776-2778)GAC>GGC	p.D926G		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	926	Potential.						metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGAACTGAGGTCCAGCTGCCA	0.478													C	47872372	T	C	47872372	3	2	1	1	0	0	0	0	1	0	0	0	18202	1667	58	3	3003	3	ZNFX1	20	47872372	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1997582	47872372	15153148	1380	1380											
KCNB1	3745	broad.mit.edu	37	chr20	48098562	48098562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgctcccgtagggtctcGgcctcacgcttgagctcctc	10	18	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:48098562G>A	uc002xur.1	-	1	620	c.456C>T	c.(454-456)GCC>GCT	p.A152A	KCNB1_uc002xus.1_Silent_p.A152A	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	152	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTAGGGTCTCGGCCTCACGCT	0.577													A	48098562	G	A	48098562	2	1	1	1	0	0	0	0	0	0	0	1	8012	1103	39	1		1	KCNB1	20	48098562	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	226190	48098562	14926958	1381	1381											
FAM65C	140876	broad.mit.edu	37	chr20	49225219	49225219	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcccaggtctggctgtcAtctgactcgatccgaccctt	9	15	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:49225219A>G	uc002xvm.2	-	10	1047	c.729T>C	c.(727-729)GAT>GAC	p.D243D	FAM65C_uc010zyt.1_Silent_p.D247D|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Silent_p.D243D	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	243										ovary(2)	2						TCTGGCTGTCATCTGACTCGA	0.657													G	49225219	A	G	49225219	2	3	1	1	0	0	0	0	0	0	0	1	5601	214	8	3		3	FAM65C	20	49225219	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1126657	49225219	13800301	1382	1382											
AURKA	6790	broad.mit.edu	37	chr20	54961381	54961381	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcctggagacaggatgaggtAcactggttgcctgcaattgc	14	9	0	2	rs45533839		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:54961381A>T	uc002xxd.1	-	5	817	c.251T>A	c.(250-252)GTA>GAA	p.V84E	AURKA_uc002xxe.1_Missense_Mutation_p.V84E|AURKA_uc002xxf.1_Missense_Mutation_p.V84E|AURKA_uc002xxg.1_Missense_Mutation_p.V84E|AURKA_uc002xxh.1_Missense_Mutation_p.V84E|AURKA_uc002xxi.1_Missense_Mutation_p.V84E|AURKA_uc002xxj.1_Missense_Mutation_p.V84E|AURKA_uc002xxk.1_Missense_Mutation_p.V84E|AURKA_uc010zzd.1_Intron	NM_198433	NP_940835	O14965	AURKA_HUMAN	serine/threonine protein kinase 6	84					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(1)|large_intestine(1)|skin(1)	8			Colorectal(105;0.202)			AGGATGAGGTACACTGGTTGC	0.493													T	54961381	A	T	54961381	3	4	1	1	0	0	0	0	1	0	0	0	1221	391	14	5	988	5	AURKA	20	54961381	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	5736162	54961381	8064139	1383	1383											
CSTF1	1477	broad.mit.edu	37	chr20	54978709	54978709	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcatagtgcactcccccAccaaccccgggttcatgacg	9	17	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:54978709A>G	uc002xxl.1	+	6	1422	c.1222A>G	c.(1222-1224)ACC>GCC	p.T408A	CSTF1_uc002xxm.1_Missense_Mutation_p.T408A|CSTF1_uc002xxn.1_Missense_Mutation_p.T408A|CSTF1_uc002xxo.1_Missense_Mutation_p.T351A	NM_001033521	NP_001028693	Q05048	CSTF1_HUMAN	cleavage stimulation factor subunit 1	408	WD 6.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(1)	1			Colorectal(105;0.202)			GCACTCCCCCACCAACCCCGG	0.572													G	54978709	A	G	54978709	3	3	1	1	0	0	0	0	1	0	0	0	3983	159	6	3	1240	3	CSTF1	20	54978709	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	17328	54978709	8046811	1384	1384											
CTCFL	140690	broad.mit.edu	37	chr20	56089762	56089762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcccgctctgggtgaagcGggtgtggcagatgtggcatt	18	8	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:56089762G>A	uc010gix.1	-	6	1878	c.1216C>T	c.(1216-1218)CGC>TGC	p.R406C	CTCFL_uc010giw.1_Missense_Mutation_p.R406C|CTCFL_uc002xym.2_Missense_Mutation_p.R406C|CTCFL_uc010giz.1_5'UTR|CTCFL_uc010giy.1_Missense_Mutation_p.R76C|CTCFL_uc010gja.1_Intron|CTCFL_uc010gjb.1_Missense_Mutation_p.R406C|CTCFL_uc010gjc.1_Missense_Mutation_p.R406C|CTCFL_uc010gjd.1_Missense_Mutation_p.R406C|CTCFL_uc010gje.2_Missense_Mutation_p.R406C|CTCFL_uc010gjf.2_Missense_Mutation_p.R201C|CTCFL_uc010gjg.2_Missense_Mutation_p.R138C|CTCFL_uc010gjh.1_Intron|CTCFL_uc010gji.1_Missense_Mutation_p.R201C|CTCFL_uc010gjj.1_Missense_Mutation_p.R406C	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	406	C2H2-type 6.				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TGGGTGAAGCGGGTGTGGCAG	0.527											OREG0026065	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	56089762	G	A	56089762	3	1	1	1	0	0	0	0	1	0	0	0	4001	1116	39	1	795	1	CTCFL	20	56089762	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1111053	56089762	6935758	1385	1385											
NPEPL1	79716	broad.mit.edu	37	chr20	57290352	57290352	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcgaggagggggacctgggGagggactccaagagacgcag	20	8	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:57290352G>A	uc010zzs.1	+	12	1637	c.1542G>A	c.(1540-1542)GGG>GGA	p.G514G	NPEPL1_uc010zzr.1_Silent_p.G466G|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Silent_p.G486G|NPEPL1_uc002xzp.2_3'UTR	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	514					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity				0	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			GGGACCTGGGGAGGGACTCCA	0.592													A	57290352	G	A	57290352	2	1	1	1	0	0	0	0	0	0	0	1	10574	1161	41	4		4	NPEPL1	20	57290352	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1200590	57290352	5735168	1386	1386											
TUBB1	81027	broad.mit.edu	37	chr20	57599037	57599037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtggagccctacaacgcGgttctgtctatccaccagct	11	13	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:57599037G>A	uc002yak.2	+	4	824	c.555G>A	c.(553-555)GCG>GCA	p.A185A		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	beta tubulin 1, class VI	185					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			ovary(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CCTACAACGCGGTTCTGTCTA	0.517													A	57599037	G	A	57599037	2	1	1	1	0	0	0	0	0	0	0	1	16750	1103	39	1		1	TUBB1	20	57599037	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	308685	57599037	5426483	1387	1387											
OSBPL2	9885	broad.mit.edu	37	chr20	60861750	60861750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggaggatcaacacccggCcccccaactctgcccaggtc	9	18	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:60861750C>T	uc002yck.1	+	11	1310	c.1108C>T	c.(1108-1110)CCC>TCC	p.P370S	OSBPL2_uc002ycl.1_Missense_Mutation_p.P358S|OSBPL2_uc011aah.1_Missense_Mutation_p.P278S	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	oxysterol-binding protein-like protein 2 isoform	370					lipid transport		lipid binding			ovary(1)|central_nervous_system(1)	2	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			CAACACCCGGCCCCCCAACTC	0.657													T	60861750	C	T	60861750	3	4	1	1	0	0	0	0	1	0	0	0	11278	739	26	2	1146	2	OSBPL2	20	60861750	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3262713	60861750	2163770	1388	1388											
LAMA5	3911	broad.mit.edu	37	chr20	60887002	60887002	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattgctgtagaaggcgacGtaatggggggcaccatcggc	16	9	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:60887002G>A	uc002ycq.2	-	70	9676	c.9609C>T	c.(9607-9609)TAC>TAT	p.Y3203Y		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3203	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAAGGCGACGTAATGGGGGG	0.637													A	60887002	G	A	60887002	2	1	1	1	0	0	0	0	0	0	0	1	8609	1140	40	1		1	LAMA5	20	60887002	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	25252	60887002	2138518	1389	1389											
SLCO4A1	28231	broad.mit.edu	37	chr20	61297923	61297923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcacagccagctacggcGggaggtgagggccagatggc	18	11	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:61297923G>A	uc002ydb.1	+	7	1673	c.1468G>A	c.(1468-1470)GGG>AGG	p.G490R	SLCO4A1_uc002ydc.1_RNA|LOC100127888_uc002ydd.2_RNA|SLCO4A1_uc002yde.1_5'Flank	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family	490	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(1)	1	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CAGCTACGGCGGGAGGTGAGG	0.672													A	61297923	G	A	61297923	3	1	1	1	0	0	0	0	1	0	0	0	14729	1116	39	1	1490	1	SLCO4A1	20	61297923	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	410921	61297923	1727597	1390	1390											
DIDO1	11083	broad.mit.edu	37	chr20	61513523	61513523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaagagggggcggaggcGgcggcgacccaggaggtgtg	23	8	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:61513523G>A	uc002ydr.1	-	16	4049	c.3785C>T	c.(3784-3786)CCG>CTG	p.P1262L	DIDO1_uc002yds.1_Missense_Mutation_p.P1262L	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1262	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GGGCGGAGGCGGCGGCGACCC	0.627													A	61513523	G	A	61513523	3	1	1	1	0	0	0	0	1	0	0	0	4522	1116	39	1	2941	1	DIDO1	20	61513523	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	215600	61513523	1511997	1391	1391											
ZBTB46	140685	broad.mit.edu	37	chr20	62421220	62421220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgacgtcggcaggaaggaCggcaccggggagctggcccg	18	14	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:62421220C>T	uc002ygv.1	-	2	1092	c.891G>A	c.(889-891)CCG>CCA	p.P297P	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCAGGAAGGACGGCACCGGGG	0.632													T	62421220	C	T	62421220	2	4	1	1	0	0	0	0	0	0	0	1	17544	523	19	1		1	ZBTB46	20	62421220	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	907697	62421220	604300	1392	1392											
NRIP1	8204	broad.mit.edu	37	chr21	16339996	16339996	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caccatagcaccttaaatccTtctccacttttaaagaatca	2	13	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:16339996T>G	uc002yjx.2	-	4	1116	c.518A>C	c.(517-519)AAG>ACG	p.K173T		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	173	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CCTTAAATCCTTCTCCACTTT	0.408													G	16339996	T	G	16339996	3	3	1	1	0	0	0	0	1	0	0	0	10652	1609	56	5	2962	5	NRIP1	21	16339996	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08		16339996	31789899	1393	1393											
USP25	29761	broad.mit.edu	37	chr21	17202863	17202863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttagatttgcaggaaagCatatccagaatccatcgaac	7	10	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:17202863C>T	uc002yjy.1	+	15	1924	c.1707C>T	c.(1705-1707)AGC>AGT	p.S569S	USP25_uc011aby.1_Silent_p.S569S|USP25_uc002yjz.1_Silent_p.S569S|USP25_uc010gla.1_Intron	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	569	Potential.				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TGCAGGAAAGCATATCCAGAA	0.289													T	17202863	C	T	17202863	2	4	1	1	0	0	0	0	0	0	0	1	17053	709	25	2		2	USP25	21	17202863	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	862867	17202863	30927032	1394	1394											
TMPRSS15	5651	broad.mit.edu	37	chr21	19647634	19647634	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggaacatcagcttcttgCaatatgtttgcagtagtacc	9	8	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:19647634C>T	uc002ykw.2	-	24	2815	c.2784G>A	c.(2782-2784)TTG>TTA	p.L928L		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	928	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						CAGCTTCTTGCAATATGTTTG	0.398													T	19647634	C	T	19647634	2	4	1	1	0	0	0	0	0	0	0	1	16243	709	25	2		2	TMPRSS15	21	19647634	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2444771	19647634	28482261	1395	1395											
N6AMT1	29104	broad.mit.edu	37	chr21	30250584	30250584	+	Frame_Shift_Del	DEL	A	A	-													aggagatctggaaccaggggAaaaaacctgtccatgacttc							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:30250583_30250583GA>G	uc002ymo.1	-	4	495	c.469_469TC>C	c.(469-471)cccfs	p.P157fs	N6AMT1_uc002ymp.1_Frame_Shift_Del_p.P129fs|N6AMT1_uc002ymq.1_Non-coding_Transcript	NM_013240	NP_037372	Q9Y5N5	HEMK2_HUMAN	Homo sapiens N-6 adenine-specific DNA methyltransferase 1 (putative) (N6AMT1), transcript variant 1, mRNA.	157					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GGAACCAGGGGAAAAAACCTG	0.393													-	30250584	A	-	30250584	7	5	1	1	0	1	0	1	0	0	0	0	10114	243	9	0	184	0	N6AMT1	21	30250584	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	10602950	30250584	17879311	1396	1396											
KRTAP13-3	337960	broad.mit.edu	37	chr21	31797925	31797925	+	Frame_Shift_Del	DEL	A	A	-													gagcagcagctattggatccAaaaccccgagacccaacatg							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:31797924_31797924CA>C	uc002yob.1	-	0	307	c.307_307TG>G	c.(307-309)ggafs	p.G103fs		NM_181622	NP_853653	Q3SY46	KR133_HUMAN	Homo sapiens keratin associated protein 13-3 (KRTAP13-3), mRNA.	103						intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						CTATTGGATCCAAAACCCCGA	0.527													-	31797925	A	-	31797925	7	5	1	1	0	1	0	1	0	0	0	0	8524	127	5	0	216	0	KRTAP13-3	21	31797925	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	1547341	31797925	16331970	1397	1397											
KRTAP19-7	337974	broad.mit.edu	37	chr21	31933569	31933569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccgaatcctccacagcCgtagcctaggcctccatagt	8	17	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:31933569C>T	uc011adb.1	-	1	40	c.40G>A	c.(40-42)GGC>AGC	p.G14S		NM_181614	NP_853645	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	14						intermediate filament					0						CCTCCACAGCCGTAGCCTAGG	0.542													T	31933569	C	T	31933569	3	4	1	1	0	0	0	0	1	0	0	0	8534	652	23	1	154	1	KRTAP19-7	21	31933569	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	135644	31933569	16196326	1398	1398											
TIAM1	7074	broad.mit.edu	37	chr21	32638798	32638798	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggagcgtttcttcttaaagCtcgccgtctccatgaaagtg	10	10	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:32638798C>A	uc002yow.1	-	5	963	c.491G>T	c.(490-492)AGC>ATC	p.S164I	TIAM1_uc011adk.1_Missense_Mutation_p.S164I|TIAM1_uc011adl.1_Missense_Mutation_p.S164I|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	164					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CTTCTTAAAGCTCGCCGTCTC	0.507													A	32638798	C	A	32638798	3	1	1	1	0	0	0	0	1	0	0	0	15887	797	28	5	4384	5	TIAM1	21	32638798	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	705229	32638798	15491097	1399	1399											
DNAJC28	54943	broad.mit.edu	37	chr21	34860883	34860883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcctagacactaaaattGcctctctgagttgctcaata	5	10	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:34860883G>A	uc002yrv.2	-	2	1267	c.818C>T	c.(817-819)GCA>GTA	p.A273V	DNAJC28_uc002yrw.2_Missense_Mutation_p.A273V	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	273	Potential.						heat shock protein binding				0						CACTAAAATTGCCTCTCTGAG	0.383													A	34860883	G	A	34860883	3	1	1	1	0	0	0	0	1	0	0	0	4646	1319	46	2	352	2	DNAJC28	21	34860883	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2222085	34860883	13269012	1400	1400											
SON	6651	broad.mit.edu	37	chr21	34927501	34927501	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccgccggagccgcaccccTagccgtcggagccgcacccc	12	21	0	0	rs139304331		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:34927501T>C	uc002yse.1	+	3	6013	c.5964T>C	c.(5962-5964)CCT>CCC	p.P1988P	SON_uc002ysb.1_Silent_p.P1988P|SON_uc002ysc.2_Silent_p.P1988P|SON_uc002ysd.2_Silent_p.P979P|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Silent_p.P979P	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1988	2-7.|2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS].				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						gccgcacccctagccgtcgga	0.154													C	34927501	T	C	34927501	2	2	1	1	0	0	0	0	0	0	0	1	14926	1509	53	3		3	SON	21	34927501	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	66618	34927501	13202394	1401	1401											
DOPEY2	9980	broad.mit.edu	37	chr21	37664458	37664458	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccctgccttcctgtcggAtgtagaggagaatcaccaag	13	11	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:37664458A>G	uc002yvg.2	+	36	6651	c.6572A>G	c.(6571-6573)GAT>GGT	p.D2191G	DOPEY2_uc011aeb.1_Missense_Mutation_p.D2140G	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	2191					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						TTCCTGTCGGATGTAGAGGAG	0.433													G	37664458	A	G	37664458	3	3	1	1	0	0	0	0	1	0	0	0	4708	333	12	3	6710	3	DOPEY2	21	37664458	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	2736957	37664458	10465437	1402	1402											
DYRK1A	1859	broad.mit.edu	37	chr21	38853059	38853060	+	Frame_Shift_Ins	INS	-	-	A													ataactatgattatattgtaINSaaaaacggagaaaagtggat							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:38853058_38853059T>TA	uc002ywk.3	+	3	522_523	c.446_447T>TA	c.(445-447)gtafs	p.V149fs	DYRK1A_uc002ywh.1_Frame_Shift_Ins_p.V111fs|DYRK1A_uc002ywi.3_Frame_Shift_Ins_p.V149fs|DYRK1A_uc002ywj.3_Frame_Shift_Ins_p.V140fs|DYRK1A_uc002ywm.3_Frame_Shift_Ins_p.V149fs	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	149					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GATTATATTGTAAAAAACGGAG	0.376													A	38853060	-	A	38853059	7	5	1	1	0	1	1	0	0	0	0	0	4854	349	13	0	461	0	DYRK1A	21	38853059	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	1188601	38853059	9276836	1403	1403											
KCNJ6	3763	broad.mit.edu	37	chr21	39086527	39086527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttacctgtggcttccacCattccttctaggatgaccac	6	14	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:39086527C>T	uc011aej.1	-	3	986	c.933G>A	c.(931-933)ATG>ATA	p.M311I	KCNJ6_uc002ywo.2_Missense_Mutation_p.M311I	NM_002240	NP_002231	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel J6	311	Cytoplasmic (By similarity).				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1					Halothane(DB01159)	TGGCTTCCACCATTCCTTCTA	0.438													T	39086527	C	T	39086527	3	4	1	1	0	0	0	0	1	0	0	0	8055	594	21	4	346	4	KCNJ6	21	39086527	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	233468	39086527	9043368	1404	1404											
BRWD1	54014	broad.mit.edu	37	chr21	40568902	40568902	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttgtgaatattggtatgCctgtgcttgtgttctgaatt	10	4	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:40568902C>T	uc002yxk.1	-	41	6232	c.6093G>A	c.(6091-6093)AGG>AGA	p.R2031R	BRWD1_uc010goc.1_Silent_p.R674R|BRWD1_uc002yxl.2_Silent_p.R2031R	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2031					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TATTGGTATGCCTGTGCTTGT	0.398													T	40568902	C	T	40568902	2	4	1	1	0	0	0	0	0	0	0	1	1525	738	26	2		2	BRWD1	21	40568902	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1482375	40568902	7560993	1405	1405											
BRWD1	54014	broad.mit.edu	37	chr21	40668215	40668215	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atttggtggggaaccataatTcactggcatttcaggaggtc	12	7	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:40668215T>A	uc002yxk.1	-	6	563	c.424A>T	c.(424-426)AAT>TAT	p.N142Y	BRWD1_uc002yxl.2_Missense_Mutation_p.N142Y	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GAACCATAATTCACTGGCATT	0.383													A	40668215	T	A	40668215	3	1	1	1	0	0	0	0	1	0	0	0	1525	1783	62	5	6925	5	BRWD1	21	40668215	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	99313	40668215	7461680	1406	1406											
ZNF295	49854	broad.mit.edu	37	chr21	43413728	43413728	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgactaacagtttttccTtgcgcttcgtttctactttg	6	9	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:43413728T>G	uc002zab.3	-	3	691	c.477A>C	c.(475-477)CAA>CAC	p.Q159H	ZNF295_uc002yzz.3_Missense_Mutation_p.Q159H|ZNF295_uc002yzy.3_Missense_Mutation_p.Q159H|ZNF295_uc002zaa.3_Missense_Mutation_p.Q159H|ZNF295_uc010gov.1_Missense_Mutation_p.Q159H|ZNF295_uc002zac.2_Missense_Mutation_p.Q159H	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	159					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CAGTTTTTCCTTGCGCTTCGT	0.408													G	43413728	T	G	43413728	3	3	1	1	0	0	0	0	1	0	0	0	17824	1606	56	5	2727	5	ZNF295	21	43413728	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	2745513	43413728	4716167	1407	1407											
WDR4	10785	broad.mit.edu	37	chr21	44283598	44283598	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctagacggccacacccGtgtggctccagcaccgaaaa	10	15	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:44283598G>A	uc002zci.2	-	4	478	c.405C>T	c.(403-405)CAC>CAT	p.H135H	WDR4_uc002zck.1_Silent_p.H135H|WDR4_uc002zcl.1_Translation_Start_Site|WDR4_uc010gpg.1_Silent_p.H135H|WDR4_uc011aew.1_Translation_Start_Site|WDR4_uc010gph.1_Translation_Start_Site	NM_033661	NP_387510	P57081	WDR4_HUMAN	WD repeat domain 4 protein	135					tRNA modification	cytoplasm|nucleoplasm	protein binding			ovary(1)	1				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		GGCCACACCCGTGTGGCTCCA	0.592													A	44283598	G	A	44283598	2	1	1	1	0	0	0	0	0	0	0	1	17290	1136	40	1		1	WDR4	21	44283598	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	869870	44283598	3846297	1408	1408											
TRPM2	7226	broad.mit.edu	37	chr21	45825124	45825124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcgcaatcttgctcttcGtggcagggctgacctgcagg	14	12	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:45825124G>A	uc002zet.1	+	18	2851	c.2638G>A	c.(2638-2640)GTG>ATG	p.V880M	TRPM2_uc002zeu.1_Missense_Mutation_p.V880M|TRPM2_uc002zew.1_Missense_Mutation_p.V880M|TRPM2_uc010gpt.1_Missense_Mutation_p.V880M|TRPM2_uc002zex.1_Missense_Mutation_p.V666M|TRPM2_uc002zey.1_Missense_Mutation_p.V393M	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	880	Helical; (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CTTGCTCTTCGTGGCAGGGCT	0.622													A	45825124	G	A	45825124	3	1	1	1	0	0	0	0	1	0	0	0	16583	1145	40	1	2704	1	TRPM2	21	45825124	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1541526	45825124	2304771	1409	1409											
UBE2G2	7327	broad.mit.edu	37	chr21	46193537	46193537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaccgctccgcgctgctctCgtagcccatggggtcatcgc	11	18	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:46193537C>T	uc002zfy.2	-	5	385	c.310G>A	c.(310-312)GAG>AAG	p.E104K	UBE2G2_uc002zfx.2_Missense_Mutation_p.E76K	NM_003343	NP_003334	P60604	UB2G2_HUMAN	ubiquitin-conjugating enzyme E2G 2 isoform 1	104				MGYESSA -> HGLREQP (in Ref. 1; AAC32312).	protein K48-linked ubiquitination	cytosol	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(3)|central_nervous_system(1)	4				Colorectal(79;0.0638)		GCGCTGCTCTCGTAGCCCATG	0.627													T	46193537	C	T	46193537	3	4	1	1	0	0	0	0	1	0	0	0	16854	893	31	1	195	1	UBE2G2	21	46193537	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	368413	46193537	1936358	1410	1410											
POFUT2	23275	broad.mit.edu	37	chr21	46689830	46689830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgcggatcttcctcacGgccccttccagactgggtac	11	15	2	1	rs149698576	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:46689830G>A	uc002zhc.2	-	7	961	c.936C>T	c.(934-936)GCC>GCT	p.A312A	POFUT2_uc002zha.2_RNA|POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Silent_p.A312A	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2 isoform C	312					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity				0				Colorectal(79;0.243)		TCTTCCTCACGGCCCCTTCCA	0.572													A	46689830	G	A	46689830	2	1	1	1	0	0	0	0	0	0	0	1	12184	1103	39	1		1	POFUT2	21	46689830	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	496293	46689830	1440065	1411	1411											
COL6A1	1291	broad.mit.edu	37	chr21	47423458	47423458	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcccacgacgtgcgggTggcggtggtgcagtacagcg	17	14	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:47423458T>C	uc002zhu.1	+	35	2720	c.2618T>C	c.(2617-2619)GTG>GCG	p.V873A	COL6A1_uc010gqd.1_Missense_Mutation_p.V204A|COL6A1_uc002zhv.1_Missense_Mutation_p.V204A|COL6A1_uc002zhw.1_5'UTR	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	873	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GACGTGCGGGTGGCGGTGGTG	0.701													C	47423458	T	C	47423458	3	2	1	1	0	0	0	0	1	0	0	0	3699	1696	59	3	2756	3	COL6A1	21	47423458	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	733628	47423458	706437	1412	1412											
COL6A2	1292	broad.mit.edu	37	chr21	47544809	47544809	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccttccccagggtgagcccgGcccccctggagaccccggtc	12	20	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:47544809G>C	uc002zia.1	+	23	1827	c.1745G>C	c.(1744-1746)GGC>GCC	p.G582A	COL6A2_uc002zhy.1_Missense_Mutation_p.G582A|COL6A2_uc002zhz.1_Missense_Mutation_p.G582A|COL6A2_uc002zib.1_5'UTR|COL6A2_uc002zic.1_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	582	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGTGAGCCCGGCCCCCCTGGA	0.637													C	47544809	G	C	47544809	3	2	1	1	0	0	0	0	1	0	0	0	3700	1203	42	5	1831	5	COL6A2	21	47544809	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	121351	47544809	585086	1413	1413											
LSS	4047	broad.mit.edu	37	chr21	47616150	47616150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcggccctctgctgccgccGacagaactctaagccctgcg	10	17	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:47616150G>A	uc002zij.2	-	18	1781	c.1702C>T	c.(1702-1704)CGG>TGG	p.R568W	LSS_uc011afv.1_Missense_Mutation_p.R557W|LSS_uc002zil.2_Missense_Mutation_p.R568W|LSS_uc002zik.2_Missense_Mutation_p.R488W	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	568	PFTB 3.				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					TGCTGCCGCCGACAGAACTCT	0.552													A	47616150	G	A	47616150	3	1	1	1	0	0	0	0	1	0	0	0	9065	1057	37	1	516	1	LSS	21	47616150	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	71341	47616150	513745	1414	1414											
CECR2	27443	broad.mit.edu	37	chr22	18020337	18020337	+	Frame_Shift_Del	DEL	C	C	-													agaatggaggaaagtcgttgCcccccacacgccgagcgccc							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:18020336_18020336GC>G	uc010gqw.1	+	12	1659	c.1659_1659GC>G	c.(1657-1659)ttgfs	p.L553fs	CECR2_uc010gqv.1_Frame_Shift_Del_p.L414fs|CECR2_uc002zml.2_Frame_Shift_Del_p.L414fs	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	597					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GAAAGTCGTTGCCCCCCACAC	0.642													-	18020337	C	-	18020337	7	5	1	1	0	1	0	1	0	0	0	0	3206	739	26	0	1718	0	CECR2	22	18020337	Frame_Shift_Del	DEL	C	TCGA-B7-5816-01A-21D-1600-08		18020337	33284229	1415	1415											
MMP11	4320	broad.mit.edu	37	chr22	24123446	24123446	+	Frame_Shift_Del	DEL	T	T	-													ccaccatccgaggcgagctcTttttcttcaaagcgggcttt							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:24123445_24123445CT>C	uc002zxx.3	+	5	946	c.924_924CT>C	c.(922-924)ctcfs	p.L308fs	MMP11_uc002zxy.3_Non-coding_Transcript	NM_005940	NP_005931	P24347	MMP11_HUMAN	Homo sapiens matrix metallopeptidase 11 (stromelysin 3) (MMP11), mRNA.	308	Hemopexin-like 1.				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				GAGGCGAGCTCTTTTTCTTCA	0.662													-	24123446	T	-	24123446	7	5	1	1	0	1	0	1	0	0	0	0	9650	1609	56	0	947	0	MMP11	22	24123446	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	6103109	24123446	27181120	1416	1416											
CABIN1	23523	broad.mit.edu	37	chr22	24462992	24462992	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtccctggaggagattcagCggctgtatgaagcaggcgac	15	9	1	2	rs145607829		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:24462992C>G	uc002zzi.1	+	16	2219	c.2092C>G	c.(2092-2094)CGG>GGG	p.R698G	CABIN1_uc002zzj.1_Missense_Mutation_p.R648G|CABIN1_uc002zzl.1_Missense_Mutation_p.R698G	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	698					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GGAGATTCAGCGGCTGTATGA	0.557													G	24462992	C	G	24462992	3	3	1	1	0	0	0	0	1	0	0	0	2528	759	27	5	2150	5	CABIN1	22	24462992	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	339546	24462992	26841574	1417	1417											
GGT1	2678	broad.mit.edu	37	chr22	25023429	25023429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgacctccgagttcttcGctgcccagctccgggcccag	10	17	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:25023429G>A	uc003aan.1	+	12	1538	c.1051G>A	c.(1051-1053)GCT>ACT	p.A351T	GGT1_uc003aas.1_Missense_Mutation_p.A351T|GGT1_uc003aat.1_Missense_Mutation_p.A351T|GGT1_uc003aau.1_Missense_Mutation_p.A351T|GGT1_uc003aav.1_Missense_Mutation_p.A351T|GGT1_uc003aaw.1_Missense_Mutation_p.A351T|GGT1_uc003aax.1_Missense_Mutation_p.A351T|GGT1_uc003aay.1_Missense_Mutation_p.A7T	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	351	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)	CGAGTTCTTCGCTGCCCAGCT	0.647													A	25023429	G	A	25023429	3	1	1	1	0	0	0	0	1	0	0	0	6361	1087	38	1	1081	1	GGT1	22	25023429	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	560437	25023429	26281137	1418	1418											
SEZ6L	23544	broad.mit.edu	37	chr22	26702070	26702070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagagggccagaagctgCacctgcactttgagaggctg	13	12	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:26702070C>T	uc003acb.2	+	6	1630	c.1474C>T	c.(1474-1476)CAC>TAC	p.H492Y	SEZ6L_uc003acc.2_Missense_Mutation_p.H492Y|SEZ6L_uc011akc.1_Missense_Mutation_p.H492Y|SEZ6L_uc003acd.2_Missense_Mutation_p.H492Y|SEZ6L_uc011akd.1_Missense_Mutation_p.H492Y|SEZ6L_uc003ace.2_Missense_Mutation_p.H492Y|SEZ6L_uc003acf.1_Missense_Mutation_p.H265Y|SEZ6L_uc010gvc.1_Missense_Mutation_p.H265Y	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	492	CUB 2.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						CCAGAAGCTGCACCTGCACTT	0.527													T	26702070	C	T	26702070	3	4	1	1	0	0	0	0	1	0	0	0	14143	710	25	2	1496	2	SEZ6L	22	26702070	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1678641	26702070	24602496	1419	1419											
EWSR1	2130	broad.mit.edu	37	chr22	29683003	29683003	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagctatggacagcagagtAgctatggtcaacaaagcagc	12	9	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:29683003A>G	uc003aet.2	+	7	1001	c.673A>G	c.(673-675)AGC>GGC	p.S225G	EWSR1_uc003aes.3_Missense_Mutation_p.S225G|EWSR1_uc003aev.2_Missense_Mutation_p.S231G|EWSR1_uc003aew.2_Missense_Mutation_p.S169G|EWSR1_uc003aex.2_Missense_Mutation_p.S225G|EWSR1_uc003aey.2_Missense_Mutation_p.S20G|EWSR1_uc003aez.2_5'Flank	NM_005243	NP_005234	Q01844	EWS_HUMAN	Ewing sarcoma breakpoint region 1 isoform 2	225	25.|EAD (Gln/Pro/Thr-rich).|31 X approximate tandem repeats.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254						ACAGCAGAGTAGCTATGGTCA	0.502			T	FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1	Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma								G	29683003	A	G	29683003	3	3	1	1	0	0	0	0	1	0	0	0	5296	420	15	3	721	3	EWSR1	22	29683003	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	2980933	29683003	21621563	1420	1420											
EWSR1	2130	broad.mit.edu	37	chr22	29693885	29693885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctccaatgaacagtatgCggggtggtctgccaccccgt	12	13	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:29693885C>T	uc003aet.2	+	13	1691	c.1363C>T	c.(1363-1365)CGG>TGG	p.R455W	EWSR1_uc003aev.2_Missense_Mutation_p.R460W|EWSR1_uc003aew.2_Missense_Mutation_p.R399W|EWSR1_uc003aex.2_Missense_Mutation_p.R454W|EWSR1_uc003aey.2_Missense_Mutation_p.R250W|EWSR1_uc003aez.2_Missense_Mutation_p.R116W	NM_005243	NP_005234	Q01844	EWS_HUMAN	Ewing sarcoma breakpoint region 1 isoform 2	455	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254						GAACAGTATGCGGGGTGGTCT	0.488			T	FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1	Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma								T	29693885	C	T	29693885	3	4	1	1	0	0	0	0	1	0	0	0	5296	759	27	1	1530	1	EWSR1	22	29693885	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	10882	29693885	21610681	1421	1421											
NF2	4771	broad.mit.edu	37	chr22	30051659	30051659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtacgcagagcaccgaggccGagccaggtgaggcccattca	14	13	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:30051659G>A	uc003age.3	+	6	1036	c.593G>A	c.(592-594)CGA>CAA	p.R198Q	NF2_uc003afy.3_Missense_Mutation_p.R198Q|NF2_uc003afz.3_Missense_Mutation_p.R115Q|NF2_uc003agf.3_Missense_Mutation_p.R198Q|NF2_uc003agb.3_Missense_Mutation_p.R121Q|NF2_uc003agc.3_Missense_Mutation_p.R160Q|NF2_uc003agd.3_Intron|NF2_uc003agg.3_Missense_Mutation_p.R198Q|NF2_uc003aga.3_Missense_Mutation_p.R156Q|NF2_uc003agh.3_Missense_Mutation_p.R157Q|NF2_uc003agi.3_Missense_Mutation_p.R115Q|NF2_uc003agj.3_Intron|NF2_uc003agk.3_Missense_Mutation_p.R160Q	NM_000268	NP_000259	P35240	MERL_HUMAN	neurofibromin 2 isoform 1	198	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.R198*(3)|p.L127_D382del(1)|p.R198fs*4(1)|p.L140_P252del(1)|p.?(1)		meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1)	728						CACCGAGGCCGAGCCAGGTGA	0.398			D|Mis|N|F|S|O		meningioma|acoustic neuroma|renal 	meningioma|acoustic neuroma			Neurofibromatosis_type_2				A	30051659	G	A	30051659	3	1	1	1	0	0	0	0	1	0	0	0	10357	1058	37	1	615	1	NF2	22	30051659	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	357774	30051659	21252907	1422	1422											
SEC14L4	284904	broad.mit.edu	37	chr22	30888485	30888485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaatcacaatcttcctgcGtgtctcctcactcatgaacg	6	14	5	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:30888485G>A	uc003aid.2	-	8	740	c.640C>T	c.(640-642)CGC>TGC	p.R214C	SEC14L4_uc011akz.1_Missense_Mutation_p.R214C|SEC14L4_uc003aie.2_Missense_Mutation_p.R199C|SEC14L4_uc003aif.2_Missense_Mutation_p.R160C	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	SEC14p-like protein TAP3 isoform a	214	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			skin(1)	1					Vitamin E(DB00163)	ATCTTCCTGCGTGTCTCCTCA	0.527													A	30888485	G	A	30888485	3	1	1	1	0	0	0	0	1	0	0	0	13984	1145	40	1	606	1	SEC14L4	22	30888485	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	836826	30888485	20416081	1423	1423											
RNF185	91445	broad.mit.edu	37	chr22	31583100	31583100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatggcaagcaaggggccctCggcctctgcatctcctgaga	13	13	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:31583100C>T	uc003akb.2	+	2	220	c.20C>T	c.(19-21)TCG>TTG	p.S7L	RNF185_uc010gwh.2_RNA|RNF185_uc011alm.1_5'UTR|RNF185_uc003akc.2_5'UTR|RNF185_uc003ake.2_Missense_Mutation_p.S7L	NM_152267	NP_689480	Q96GF1	RN185_HUMAN	ring finger protein 185 isoform 1	7						integral to membrane	zinc ion binding				0						AAGGGGCCCTCGGCCTCTGCA	0.587													T	31583100	C	T	31583100	3	4	1	1	0	0	0	0	1	0	0	0	13468	893	31	1	22	1	RNF185	22	31583100	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	694615	31583100	19721466	1424	1424											
SFI1	9814	broad.mit.edu	37	chr22	32009168	32009168	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcagcgggcgacagtgcgggCcctgtggttctgggccttct	17	12	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:32009168C>G	uc003ale.2	+	25	2924	c.2531C>G	c.(2530-2532)GCC>GGC	p.A844G	SFI1_uc003alf.2_Missense_Mutation_p.A813G|SFI1_uc003alg.2_Missense_Mutation_p.A762G|SFI1_uc011alp.1_Missense_Mutation_p.A750G|SFI1_uc011alq.1_Missense_Mutation_p.A789G|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA|SFI1_uc003ali.2_5'Flank|SFI1_uc003alj.2_5'Flank	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	844					G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						ACAGTGCGGGCCCTGTGGTTC	0.617													G	32009168	C	G	32009168	3	3	1	1	0	0	0	0	1	0	0	0	14156	739	26	5	2625	5	SFI1	22	32009168	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	426068	32009168	19295398	1425	1425											
SLC5A4	6527	broad.mit.edu	37	chr22	32651216	32651216	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatcaccaccagaaaatagAtgacaatgactgagatgtca	7	10	2	5			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:32651216A>G	uc003ami.2	-	1	103	c.101T>C	c.(100-102)ATC>ACC	p.I34T		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	34	Helical; (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						CAGAAAATAGATGACAATGAC	0.537													G	32651216	A	G	32651216	3	3	1	1	0	0	0	0	1	0	0	0	14667	333	12	3	1938	3	SLC5A4	22	32651216	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	642048	32651216	18653350	1426	1426											
FBXO7	25793	broad.mit.edu	37	chr22	32887092	32887092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggaaaatgtagccaacatAtacaaagatcttcagaaact	8	7	2	2	rs146429630		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:32887092A>G	uc003amq.2	+	6	1174	c.891A>G	c.(889-891)ATA>ATG	p.I297M	FBXO7_uc003amp.1_3'UTR|FBXO7_uc003amr.2_Missense_Mutation_p.I183M|FBXO7_uc003ams.2_Missense_Mutation_p.I141M|FBXO7_uc003amt.2_Missense_Mutation_p.I218M|FBXO7_uc003amu.2_Missense_Mutation_p.I183M|FBXO7_uc003amv.2_5'Flank	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	F-box only protein 7 isoform 1	297					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)	1						TAGCCAACATATACAAAGATC	0.368													G	32887092	A	G	32887092	3	3	1	1	0	0	0	0	1	0	0	0	5760	439	16	3	954	3	FBXO7	22	32887092	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	235876	32887092	18417474	1427	1427											
APOL3	80833	broad.mit.edu	37	chr22	36541535	36541535	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttacctgggcaattcagcCgcagtcacgaatctcttcca	9	13	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:36541535C>T	uc003aot.2	-	2	374	c.336G>A	c.(334-336)GCG>GCA	p.A112A	APOL3_uc003aoq.2_Silent_p.A41A|APOL3_uc003aor.2_Silent_p.A41A|APOL3_uc003aos.2_Silent_p.A41A|APOL3_uc003aou.2_5'UTR|APOL3_uc003aov.2_5'UTR	NM_145640	NP_663615	O95236	APOL3_HUMAN	apolipoprotein L3 isoform 1	112					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity				0						GCAATTCAGCCGCAGTCACGA	0.562													T	36541535	C	T	36541535	2	4	1	1	0	0	0	0	0	0	0	1	807	639	23	1		1	APOL3	22	36541535	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3654443	36541535	14763031	1428	1428											
FOXRED2	80020	broad.mit.edu	37	chr22	36902213	36902213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcggcgttagccttgcccGtgtaccgcttgttgatgctg	12	12	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:36902213G>A	uc003apn.3	-	1	365	c.257C>T	c.(256-258)ACG>ATG	p.T86M	FOXRED2_uc003apo.3_Missense_Mutation_p.T86M|FOXRED2_uc003app.3_Missense_Mutation_p.T86M	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	86					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			lung(1)|kidney(1)	2						AGCCTTGCCCGTGTACCGCTT	0.642													A	36902213	G	A	36902213	3	1	1	1	0	0	0	0	1	0	0	0	6034	1145	40	1	1829	1	FOXRED2	22	36902213	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	360678	36902213	14402353	1429	1429											
GGA1	26088	broad.mit.edu	37	chr22	38021856	38021856	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggatctcccgcctgcgggCaccacctacccagctatgcc	9	19	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:38021856C>T	uc003atc.2	+	11	1358	c.993C>T	c.(991-993)GGC>GGT	p.G331G	GGA1_uc003atd.2_Intron|GGA1_uc003ate.2_Silent_p.G331G|GGA1_uc003atf.2_Silent_p.G258G	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	331	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					CGCCTGCGGGCACCACCTACC	0.652													T	38021856	C	T	38021856	2	4	1	1	0	0	0	0	0	0	0	1	6352	697	25	2		2	GGA1	22	38021856	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1119643	38021856	13282710	1430	1430											
EIF3L	51386	broad.mit.edu	37	chr22	38273988	38273988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctttcaaccatccgcaGcttcctgaagctctacacca	5	17	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:38273988G>A	uc003auf.2	+	11	1472	c.1385G>A	c.(1384-1386)AGC>AAC	p.S462N	EIF3L_uc003aue.1_Missense_Mutation_p.S462N|EIF3L_uc011ann.1_Missense_Mutation_p.S414N|EIF3L_uc003aug.2_Missense_Mutation_p.S354N|EIF3L_uc003auh.2_Missense_Mutation_p.S195N	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3	462						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1						ACCATCCGCAGCTTCCTGAAG	0.542													A	38273988	G	A	38273988	3	1	1	1	0	0	0	0	1	0	0	0	5022	971	34	2	1427	2	EIF3L	22	38273988	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	252132	38273988	13030578	1431	1431											
CSNK1E	1454	broad.mit.edu	37	chr22	38696761	38696761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgttgatggaagcgtagCgggccgtgccggtcaggttc	18	9	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:38696761C>T	uc003avj.2	-	5	794	c.533G>A	c.(532-534)CGC>CAC	p.R178H	CSNK1E_uc003avk.2_Missense_Mutation_p.R178H|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.R178H|CSNK1E_uc003avo.2_Missense_Mutation_p.R178H|CSNK1E_uc003avp.1_Missense_Mutation_p.R178H|CSNK1E_uc003avq.1_Missense_Mutation_p.R178H	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	178	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)					GGAAGCGTAGCGGGCCGTGCC	0.652													T	38696761	C	T	38696761	3	4	1	1	0	0	0	0	1	0	0	0	3953	768	27	1	741	1	CSNK1E	22	38696761	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	422773	38696761	12607805	1432	1432											
KDELR3	11015	broad.mit.edu	37	chr22	38877444	38877446	+	In_Frame_Del	DEL	CTT	CTT	-													caaaccatcttctactgtgaCttcttctacttgtatgtgac							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:38877443_38877445ACTT>A	uc003avu.3	+	3	734_736	c.578_580ACTT>A	c.(577-582)gacttc>gAtc	p.F195del	KDELR3_uc003avv.3_In_Frame_Del_p.F195del	NM_016657	NP_057839	O43731	ERD23_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 (KDELR3), transcript variant 2, mRNA.	195					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity	p.F194V(2)|p.F194Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					TTCTACTGTGACTTCTTCTACTT	0.448													-	38877446	CTT	-	38877444	7	5	1	1	0	1	0	1	0	0	0	0	8121	564	20	0	593	0	KDELR3	22	38877444	In_Frame_Del	DEL	CTT	TCGA-B7-5816-01A-21D-1600-08	180683	38877444	12427122	1433	1433											
APOBEC3F	200316	broad.mit.edu	37	chr22	39441119	39441119	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagcaccccaatgtcaccctGaccatctccgccgcccgcct	7	21	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:39441119G>C	uc003aww.2	+	3	638	c.345G>C	c.(343-345)CTG>CTC	p.L115L	APOBEC3F_uc011aog.1_Silent_p.L115L	NM_145298	NP_660341	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	116					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding				0	Melanoma(58;0.04)					ATGTCACCCTGACCATCTCCG	0.597													C	39441119	G	C	39441119	2	2	1	1	0	0	0	0	0	0	0	1	793	1277	45	5		5	APOBEC3F	22	39441119	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	563675	39441119	11863447	1434	1434											
APOBEC3H	164668	broad.mit.edu	37	chr22	39496366	39496366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttactacccgaggaaggCcctcttgtgttaccagctga	10	13	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:39496366C>T	uc011aoh.1	+	2	149	c.83C>T	c.(82-84)GCC>GTC	p.A28V	APOBEC3H_uc011aoi.1_5'Flank|APOBEC3H_uc003axa.3_5'Flank	NM_181773	NP_861438	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	28					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Melanoma(58;0.04)					CCGAGGAAGGCCCTCTTGTGT	0.567													T	39496366	C	T	39496366	3	4	1	1	0	0	0	0	1	0	0	0	795	739	26	2	85	2	APOBEC3H	22	39496366	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	55247	39496366	11808200	1435	1435											
TAB1	10454	broad.mit.edu	37	chr22	39811581	39811581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccaacttcgtggcccagCggctgtccgcagagctcctg	12	15	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:39811581C>T	uc003axt.2	+	3	296	c.247C>T	c.(247-249)CGG>TGG	p.R83W	TAB1_uc003axr.2_Missense_Mutation_p.R159W|TAB1_uc011aok.1_5'UTR|TAB1_uc003axu.1_Missense_Mutation_p.R83W	NM_006116	NP_006107	Q15750	TAB1_HUMAN	mitogen-activated protein kinase kinase kinase 7	83	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)	1						CGTGGCCCAGCGGCTGTCCGC	0.627													T	39811581	C	T	39811581	3	4	1	1	0	0	0	0	1	0	0	0	15492	759	27	1	257	1	TAB1	22	39811581	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	315215	39811581	11492985	1436	1436											
SMCR7L	54471	broad.mit.edu	37	chr22	39909840	39909840	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctcacactggaggtgcagTatgagcgtgacaaacatctc	10	12	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:39909840T>C	uc003axx.2	+	6	1402	c.904T>C	c.(904-906)TAT>CAT	p.Y302H	SMCR7L_uc003axw.2_Missense_Mutation_p.Y302H|SMCR7L_uc010gxz.1_Missense_Mutation_p.Y124H|SMCR7L_uc003axy.2_Missense_Mutation_p.Y124H	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	302						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)					GGAGGTGCAGTATGAGCGTGA	0.572											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	39909840	T	C	39909840	3	2	1	1	0	0	0	0	1	0	0	0	14791	1638	57	3	918	3	SMCR7L	22	39909840	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	98259	39909840	11394726	1437	1437											
NAGA	4668	broad.mit.edu	37	chr22	42464549	42464549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccattgtccagcatcaGcacctgggccacatgtccca	9	16	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:42464549G>A	uc003bbx.2	-	3	183	c.46C>T	c.(46-48)CTG>TTG	p.L16L	NAGA_uc003bby.2_Silent_p.L16L|NAGA_uc003bbw.3_Silent_p.L16L	NM_000262	NP_000253	P17050	NAGAB_HUMAN	alpha-N-acetylgalactosaminidase precursor	16					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)	1						TCCAGCATCAGCACCTGGGCC	0.602													A	42464549	G	A	42464549	2	1	1	1	0	0	0	0	0	0	0	1	10141	962	34	2		2	NAGA	22	42464549	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2554709	42464549	8840017	1438	1438											
ARFGAP3	26286	broad.mit.edu	37	chr22	43213821	43213821	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttttcgtctttcttcatTtgaatttcaagatccttata	3	8	5	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:43213821T>G	uc003bdd.2	-	10	1075	c.855A>C	c.(853-855)CAA>CAC	p.Q285H	ARFGAP3_uc010gzf.2_Missense_Mutation_p.Q241H|ARFGAP3_uc011apu.1_Missense_Mutation_p.Q213H	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating	285					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(1)	1						ctttcttcatttgaatttcaa	0.159													G	43213821	T	G	43213821	3	3	1	1	0	0	0	0	1	0	0	0	851	1838	64	5	723	5	ARFGAP3	22	43213821	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	749272	43213821	8090745	1439	1439											
FBLN1	2192	broad.mit.edu	37	chr22	45938087	45938087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggaagggacatcgctgCgtgaactctcccggcagttt	14	10	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:45938087C>T	uc003bgj.1	+	10	1266	c.1119C>T	c.(1117-1119)TGC>TGT	p.C373C	FBLN1_uc003bgg.1_Silent_p.C373C|FBLN1_uc003bgh.2_Silent_p.C373C|FBLN1_uc010gzz.2_Silent_p.C411C|FBLN1_uc003bgi.1_Silent_p.C373C	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	373	EGF-like 5; calcium-binding.|Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GACATCGCTGCGTGAACTCTC	0.567													T	45938087	C	T	45938087	2	4	1	1	0	0	0	0	0	0	0	1	5698	776	27	1		1	FBLN1	22	45938087	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2724266	45938087	5366479	1440	1440											
CELSR1	9620	broad.mit.edu	37	chr22	46806395	46806395	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgaactgccggttgtgcacTgggaagtcttctggcaggtt	14	9	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:46806395T>C	uc003bhw.1	-	7	4833	c.4833A>G	c.(4831-4833)CCA>CCG	p.P1611P	CELSR1_uc011arc.1_5'Flank	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1611	Extracellular (Potential).|Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGTTGTGCACTGGGAAGTCTT	0.602													C	46806395	T	C	46806395	2	2	1	1	0	0	0	0	0	0	0	1	3221	1567	55	3		3	CELSR1	22	46806395	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	868308	46806395	4498171	1441	1441											
CELSR1	9620	broad.mit.edu	37	chr22	46929685	46929685	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacgtcggggtcatgggccGggatgcagccgatcacgccg	16	13	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:46929685G>T	uc003bhw.1	-	1	3383	c.3383C>A	c.(3382-3384)CCG>CAG	p.P1128Q		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1128	Extracellular (Potential).|Cadherin 9.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTCATGGGCCGGGATGCAGCC	0.607													T	46929685	G	T	46929685	3	4	1	1	0	0	0	0	1	0	0	0	3221	1116	39	5	5801	5	CELSR1	22	46929685	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	123290	46929685	4374881	1442	1442											
BRD1	23774	broad.mit.edu	37	chr22	50217218	50217218	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactggccctcggggatgtAgggcaccccgtagcactcct	12	16	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:50217218A>G	uc003biv.2	-	1	1235	c.748T>C	c.(748-750)TAC>CAC	p.Y250H	BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Missense_Mutation_p.Y250H|BRD1_uc011arh.1_Missense_Mutation_p.Y250H|BRD1_uc003biu.3_Missense_Mutation_p.Y250H	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	250	PHD-type.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCGGGGATGTAGGGCACCCCG	0.642													G	50217218	A	G	50217218	3	3	1	1	0	0	0	0	1	0	0	0	1501	420	15	3	2476	3	BRD1	22	50217218	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	3287533	50217218	1087348	1443	1443											
ZBED4	9889	broad.mit.edu	37	chr22	50278514	50278514	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggacttgcagtctcacttgAaccctggagatgggctgatg	13	9	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:50278514A>G	uc003bix.2	+	2	1674	c.1204A>G	c.(1204-1206)AAC>GAC	p.N402D		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	402						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GTCTCACTTGAACCCTGGAGA	0.602													G	50278514	A	G	50278514	3	3	1	1	0	0	0	0	1	0	0	0	17517	246	9	3	1206	3	ZBED4	22	50278514	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	61296	50278514	1026052	1444	1444											
MLC1	23209	broad.mit.edu	37	chr22	50523301	50523301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgggcatccggtcataggCcagctcctctctgaatggct	12	13	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:50523301C>T	uc003bjg.1	-	2	304	c.31G>A	c.(31-33)GCC>ACC	p.A11T	MLC1_uc011arl.1_Missense_Mutation_p.A11T|MLC1_uc003bjh.1_Missense_Mutation_p.A11T|MLC1_uc011arm.1_Missense_Mutation_p.A11T|MLC1_uc011arn.1_Intron|MLC1_uc011aro.1_Missense_Mutation_p.A11T	NM_139202	NP_631941	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with	11						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			pancreas(1)	1		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CGGTCATAGGCCAGCTCCTCT	0.602													T	50523301	C	T	50523301	3	4	1	1	0	0	0	0	1	0	0	0	9612	739	26	2	1146	2	MLC1	22	50523301	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	244787	50523301	781265	1445	1445											
TUBGCP6	85378	broad.mit.edu	37	chr22	50656674	50656674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctggatctcctccaggtcGcccacggtggccaacctggc	12	17	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:50656674G>A	uc003bkb.1	-	23	5624	c.5112C>T	c.(5110-5112)GGC>GGT	p.G1704G	TUBGCP6_uc003bka.1_Nonsense_Mutation_p.R781*|TUBGCP6_uc010har.1_Silent_p.G1696G|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1704					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCTCCAGGTCGCCCACGGTGG	0.637													A	50656674	G	A	50656674	2	1	1	1	0	0	0	0	0	0	0	1	16767	1074	38	1		1	TUBGCP6	22	50656674	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	133373	50656674	647892	1446	1446											
HDAC10	83933	broad.mit.edu	37	chr22	50686566	50686566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggggctcatcggcacagCggtcacatctagggacagtt	14	11	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:50686566C>T	uc003bkg.2	-	13	1463	c.1090G>A	c.(1090-1092)GCT>ACT	p.A364T	HDAC10_uc003bke.2_Missense_Mutation_p.A90T|HDAC10_uc003bkf.2_Missense_Mutation_p.A90T|HDAC10_uc010hav.2_Missense_Mutation_p.A344T|HDAC10_uc003bkh.2_Missense_Mutation_p.A157T|HDAC10_uc003bki.2_Missense_Mutation_p.A314T|HDAC10_uc003bkj.2_RNA|HDAC10_uc003bkk.1_5'UTR	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	histone deacetylase 10 isoform 1	364					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATCGGCACAGCGGTCACATCT	0.647													T	50686566	C	T	50686566	3	4	1	1	0	0	0	0	1	0	0	0	7005	768	27	1	951	1	HDAC10	22	50686566	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	29892	50686566	618000	1447	1447											
CPT1B	1375	broad.mit.edu	37	chr22	51016265	51016265	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acaggtagacgtgtttcaggGcctcccgactgagccggaag	14	11	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:51016265G>C	uc003bmk.3	-	1	242	c.80C>G	c.(79-81)GCC>GGC	p.A27G	CPT1B_uc003bml.2_Missense_Mutation_p.A27G|CPT1B_uc003bmm.2_Missense_Mutation_p.A27G|CPT1B_uc003bmo.2_Missense_Mutation_p.A27G|CPT1B_uc011asa.1_Missense_Mutation_p.A27G|CPT1B_uc003bmn.2_Missense_Mutation_p.A27G|CPT1B_uc011asb.1_Missense_Mutation_p.A27G|CHKB-CPT1B_uc003bmp.2_5'UTR	NM_001145137	NP_001138609	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B isoform a	27	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)	2		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GTGTTTCAGGGCCTCCCGACT	0.632													C	51016265	G	C	51016265	3	2	1	1	0	0	0	0	1	0	0	0	3832	1203	42	5	2310	5	CPT1B	22	51016265	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	329699	51016265	288301	1448	1448											
SHANK3	85358	broad.mit.edu	37	chr22	51117291	51117291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctggacttccgcactcgCgatgggctcactgccgtgca	11	16	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:51117291C>T	uc003bne.1	+	5	543	c.543C>T	c.(541-543)CGC>CGT	p.R181R		NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	181										central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TCCGCACTCGCGATGGGCTCA	0.667													T	51117291	C	T	51117291	2	4	1	1	0	0	0	0	0	0	0	1	14266	755	27	1		1	SHANK3	22	51117291	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	101026	51117291	187275	1449	1449											
PPP2R3B	28227	broad.mit.edu	37	chrX	302052	302052	+	Frame_Shift_Del	DEL	T	T	-													aggaacccacctggtcggtgTttttttgtcttcctcagaga							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:302051_302051GT>G	uc004cpg.3	-	8	1430	c.1166_1166AC>C	c.(1165-1167)acafs	p.T389fs	PPP2R3B_uc004cpf.3_5'UTR	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA.	389	EF-hand.				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGGTCGGTGTTTTTTTGTC	0.562													-	302052	T	-	302052	7	5	1	1	0	1	0	1	0	0	0	0	12389	1725	60	0	582	0	PPP2R3B	23	302052	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08		302052	154968508	1450	1450											
GYG2	8908	broad.mit.edu	37	chrX	2795350	2795350	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaggatgcactggaggTggtatccaaattcttcccct	10	11	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:2795350T>C	uc004cqs.1	+	11	1626	c.1344_splice	c.e11+2	p.E448_splice	GYG2_uc004cqt.1_Splice_Site_p.E417_splice|GYG2_uc004cqu.1_Splice_Site_p.E416_splice|GYG2_uc004cqv.1_Intron|GYG2_uc004cqw.1_Splice_Site_p.E408_splice|GYG2_uc004cqx.1_Intron|GYG2_uc010ndc.1_Intron	NM_003918	NP_003909	O15488	GLYG2_HUMAN	glycogenin 2 isoform b						glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			ovary(1)|kidney(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCACTGGAGGTGGTATCCAAA	0.542													C	2795350	T	C	2795350	5	2	1	1	0	0	0	0	0	0	1	0	6906	1710	59	3	1384	3	GYG2	23	2795350	Splice_Site	SNP	T	TCGA-B7-5816-01A-21D-1600-08	2493298	2795350	152475210	1451	1451											
SHROOM2	357	broad.mit.edu	37	chrX	9912766	9912766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggacgtgcaggccaacaCcgtgctgggggccgaggtgg	20	10	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:9912766C>T	uc004csu.1	+	9	4487	c.4397C>T	c.(4396-4398)ACC>ATC	p.T1466I	SHROOM2_uc004csv.2_Missense_Mutation_p.T300I|SHROOM2_uc011mic.1_Missense_Mutation_p.T301I|SHROOM2_uc004csw.1_Missense_Mutation_p.T301I	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	1466	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				CAGGCCAACACCGTGCTGGGG	0.632													T	9912766	C	T	9912766	3	4	1	1	0	0	0	0	1	0	0	0	14294	507	18	4	4431	4	SHROOM2	23	9912766	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	7117416	9912766	145357794	1452	1452											
WWC3	55841	broad.mit.edu	37	chrX	10077957	10077957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagctcatcattgcacagCgccgctctgcgggagatgtg	12	12	4	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:10077957C>T	uc004csx.3	+	9	1069	c.871C>T	c.(871-873)CGC>TGC	p.R291C	WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	291	Potential.									ovary(4)	4						CATTGCACAGCGCCGCTCTGC	0.687													T	10077957	C	T	10077957	3	4	1	1	0	0	0	0	1	0	0	0	17410	768	27	1	901	1	WWC3	23	10077957	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	165191	10077957	145192603	1453	1453											
CLCN4	1183	broad.mit.edu	37	chrX	10201604	10201604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatggcaaaccaggaccccGaatccatcatgtttaattag	8	10	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:10201604G>A	uc004csy.3	+	13	2693	c.2263G>A	c.(2263-2265)GAA>AAA	p.E755K	CLCN4_uc011mid.1_Missense_Mutation_p.E661K	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	755	CBS 2.|Cytoplasmic (By similarity).					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCAGGACCCCGAATCCATCAT	0.368													A	10201604	G	A	10201604	3	1	1	1	0	0	0	0	1	0	0	0	3465	1059	37	1	2305	1	CLCN4	23	10201604	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	123647	10201604	145068956	1454	1454											
MSL3	10943	broad.mit.edu	37	chrX	11783634	11783634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgttgaatccatccacGccacagtccacagagagtca	7	14	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:11783634G>A	uc004cuw.2	+	9	1062	c.957G>A	c.(955-957)ACG>ACA	p.T319T	MSL3_uc004cuv.1_Silent_p.T319T|MSL3_uc004cux.2_Silent_p.T260T|MSL3_uc011mig.1_Silent_p.T170T|MSL3_uc011mih.1_Silent_p.T307T|MSL3_uc004cuy.2_Silent_p.T153T	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3-like 1 isoform a	319					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						ATCCATCCACGCCACAGTCCA	0.577													A	11783634	G	A	11783634	2	1	1	1	0	0	0	0	0	0	0	1	9879	1074	38	1		1	MSL3	23	11783634	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1582030	11783634	143486926	1455	1455											
FANCB	2187	broad.mit.edu	37	chrX	14876021	14876021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtggaaccaccaggtaaCgattctcttgtttgtcttca	10	9	3	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:14876021C>T	uc004cwg.1	-	5	1428	c.1160G>A	c.(1159-1161)CGT>CAT	p.R387H	FANCB_uc004cwh.1_Missense_Mutation_p.R387H	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B	387					DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)					CACCAGGTAACGATTCTCTTG	0.318								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				T	14876021	C	T	14876021	3	4	1	1	0	0	0	0	1	0	0	0	5663	536	19	1	1443	1	FANCB	23	14876021	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3092387	14876021	140394539	1456	1456											
GRPR	2925	broad.mit.edu	37	chrX	16170760	16170760	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaacatctgtcacgagcggTatgtctagattgacccttga	10	9	3	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:16170760T>C	uc004cxj.2	+	3	1800	c.1147T>C	c.(1147-1149)TAT>CAT	p.Y383H		NM_005314	NP_005305	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	383	Cytoplasmic (Potential).				cell proliferation	integral to plasma membrane	bombesin receptor activity			ovary(3)|lung(1)	4	Hepatocellular(33;0.183)					TCACGAGCGGTATGTCTAGAT	0.517													C	16170760	T	C	16170760	3	2	1	1	0	0	0	0	1	0	0	0	6808	1638	57	3	1157	3	GRPR	23	16170760	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1294739	16170760	139099800	1457	1457											
MAGEB3	4114	broad.mit.edu	37	chrX	30254158	30254158	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actaacaagaaaaaagtatcCttttcatcccctcttatttt	2	10	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:30254158C>A	uc004dca.1	+	5	854	c.117C>A	c.(115-117)TCC>TCA	p.S39S		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	39											0						AAAAAGTATCCTTTTCATCCC	0.502													A	30254158	C	A	30254158	2	1	1	1	0	0	0	0	0	0	0	1	9177	668	24	5		5	MAGEB3	23	30254158	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	14083398	30254158	125016402	1458	1458											
FAM47B	170062	broad.mit.edu	37	chrX	34961414	34961414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctgaaacagctggatcccGagaggaagctggaggacgct	15	9	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:34961414G>A	uc004ddi.1	+	1	484	c.466G>A	c.(466-468)GAG>AAG	p.E156K		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	156										ovary(3)|breast(1)	4						GCTGGATCCCGAGAGGAAGCT	0.567													A	34961414	G	A	34961414	3	1	1	1	0	0	0	0	1	0	0	0	5570	1059	37	1	468	1	FAM47B	23	34961414	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	4707256	34961414	120309146	1459	1459											
BCOR	54880	broad.mit.edu	37	chrX	39911559	39911559	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaattctgcctctgcaatggTgacaatttccacgtttggaa	8	9	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:39911559T>C	uc004den.3	-	15	5363	c.5071A>G	c.(5071-5073)ACC>GCC	p.T1691A	BCOR_uc004dep.3_Missense_Mutation_p.T1657A|BCOR_uc004deo.3_Missense_Mutation_p.T1639A|BCOR_uc010nhb.2_3'UTR|BCOR_uc004dem.3_Missense_Mutation_p.T1657A	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	1691					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						TCTGCAATGGTGACAATTTCC	0.448													C	39911559	T	C	39911559	3	2	1	1	0	0	0	0	1	0	0	0	1386	1696	59	3	200	3	BCOR	23	39911559	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	4950145	39911559	115359001	1460	1460											
DDX3X	1654	broad.mit.edu	37	chrX	41203054	41203054	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttattcagatggtccaggCgaggctttgagggccatgaa	13	7	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:41203054C>T	uc004dfe.2	+	8	1599	c.744C>T	c.(742-744)GGC>GGT	p.G248G	DDX3X_uc010nhf.1_Silent_p.G232G|DDX3X_uc004dff.2_Silent_p.G248G|DDX3X_uc011mkq.1_Silent_p.G232G|DDX3X_uc011mkr.1_Silent_p.G248G|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_Intron	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	248	Helicase ATP-binding.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						ATGGTCCAGGCGAGGCTTTGA	0.408										HNSCC(61;0.18)			T	41203054	C	T	41203054	2	4	1	1	0	0	0	0	0	0	0	1	4358	755	27	1		1	DDX3X	23	41203054	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1291495	41203054	114067506	1461	1461											
DDX3X	1654	broad.mit.edu	37	chrX	41203302	41203302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaatggaaggtatgggcGccgcaaacaatacccaatct	11	9	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:41203302G>A	uc004dfe.2	+	9	1640	c.785G>A	c.(784-786)CGC>CAC	p.R262H	DDX3X_uc010nhf.1_Missense_Mutation_p.R246H|DDX3X_uc004dff.2_Missense_Mutation_p.R262H|DDX3X_uc011mkq.1_Missense_Mutation_p.R246H|DDX3X_uc011mkr.1_Missense_Mutation_p.R262H|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	262	Necessary for interaction with XPO1.|Helicase ATP-binding.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						AGGTATGGGCGCCGCAAACAA	0.383										HNSCC(61;0.18)			A	41203302	G	A	41203302	3	1	1	1	0	0	0	0	1	0	0	0	4358	1087	38	1	819	1	DDX3X	23	41203302	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	248	41203302	114067258	1462	1462											
DDX3X	1654	broad.mit.edu	37	chrX	41206134	41206134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcaacctcattctttaaCgagaggaacataaatattac	6	9	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:41206134C>T	uc004dfe.2	+	15	2493	c.1638C>T	c.(1636-1638)AAC>AAT	p.N546N	DDX3X_uc004dff.2_Silent_p.N546N|DDX3X_uc011mkq.1_Silent_p.N530N|DDX3X_uc011mkr.1_Silent_p.N416N|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	546	Helicase C-terminal.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						CATTCTTTAACGAGAGGAACA	0.358										HNSCC(61;0.18)			T	41206134	C	T	41206134	2	4	1	1	0	0	0	0	0	0	0	1	4358	535	19	1		1	DDX3X	23	41206134	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2832	41206134	114064426	1463	1463											
CDK16	5127	broad.mit.edu	37	chrX	47086419	47086419	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caactgaggagacgtggccaGgcatcctgtccaacgaggag	14	11	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:47086419G>T	uc004dho.2	+	12	1558	c.1162G>T	c.(1162-1164)GGC>TGC	p.G388C	CDK16_uc011mli.1_Missense_Mutation_p.G394C|CDK16_uc011mlk.1_Missense_Mutation_p.G388C|CDK16_uc011mll.1_Missense_Mutation_p.G462C	NM_006201	NP_006192	Q00536	CDK16_HUMAN	PCTAIRE protein kinase 1 isoform 1	388	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						GACGTGGCCAGGCATCCTGTC	0.592													T	47086419	G	T	47086419	3	4	1	1	0	0	0	0	1	0	0	0	3132	1000	35	5	1446	5	CDK16	23	47086419	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	5880285	47086419	108184141	1464	1464											
USP11	8237	broad.mit.edu	37	chrX	47101688	47101688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttatccccatggatccgCgccgcaagccagagcaggtg	11	14	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:47101688C>T	uc004dhp.2	+	10	1516	c.1516C>T	c.(1516-1518)CGC>TGC	p.R506C	USP11_uc004dhq.2_Missense_Mutation_p.R233C	NM_004651	NP_004642	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	506					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)|lung(1)|central_nervous_system(1)	3						CATGGATCCGCGCCGCAAGCC	0.537													T	47101688	C	T	47101688	3	4	1	1	0	0	0	0	1	0	0	0	17039	768	27	1	1554	1	USP11	23	47101688	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	15269	47101688	108168872	1465	1465											
ZNF81	347344	broad.mit.edu	37	chrX	47774787	47774787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagtgaagttctgtgaaCgtaatcaatgtggaaaagtc	12	5	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:47774787C>T	uc010nhy.1	+	6	1110	c.742C>T	c.(742-744)CGT>TGT	p.R248C		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	248						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)				GTTCTGTGAACGTAATCAATG	0.388													T	47774787	C	T	47774787	3	4	1	1	0	0	0	0	1	0	0	0	18171	536	19	1	756	1	ZNF81	23	47774787	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	673099	47774787	107495773	1466	1466											
PPP1R3F	89801	broad.mit.edu	37	chrX	49137887	49137887	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggcctgccgaggaggaactGaagacgaagaacatggatga	15	7	0	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:49137887G>A	uc004dnh.1	+	2	1039	c.1023G>A	c.(1021-1023)CTG>CTA	p.L341L	PPP1R3F_uc011mnd.1_Silent_p.L13L|PPP1R3F_uc004dni.2_5'UTR|PPP1R3F_uc004dnj.1_5'UTR	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	341	Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)					AGGAGGAACTGAAGACGAAGA	0.483													A	49137887	G	A	49137887	2	1	1	1	0	0	0	0	0	0	0	1	12375	1277	45	4		4	PPP1R3F	23	49137887	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1363100	49137887	106132673	1467	1467											
NUDT11	55190	broad.mit.edu	37	chrX	51239075	51239076	+	Frame_Shift_Ins	INS	-	-	C													ccaggagccggcctaacttcINScccttgactcccgcttcttc							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:51239074_51239075T>TC	uc010njt.3	-	0	385_386	c.222_223A>GA	c.(220-225)gggaagfs	p.G74fs		NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.	74	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					CGGCCTAACTTCCCCTTGACTC	0.644										HNSCC(48;0.14)			C	51239076	-	C	51239075	7	5	1	1	0	1	1	0	0	0	0	0	10727	842	30	0	280	0	NUDT11	23	51239075	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	2101188	51239075	104031485	1468	1468											
MAGED1	9500	broad.mit.edu	37	chrX	51639696	51639696	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caaaaccagacagccaggcaGaccccaccagcacgtcagag	9	16	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:51639696G>A	uc004dpm.2	+	4	1040	c.945G>A	c.(943-945)CAG>CAA	p.Q315Q	MAGED1_uc004dpn.2_Silent_p.Q371Q|MAGED1_uc004dpo.2_Silent_p.Q315Q	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform b	315	Pro-rich.|22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)					CAGCCAGGCAGACCCCACCAG	0.617										Multiple Myeloma(10;0.10)			A	51639696	G	A	51639696	2	1	1	1	0	0	0	0	0	0	0	1	9183	933	33	4		4	MAGED1	23	51639696	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	400621	51639696	103630864	1469	1469											
HUWE1	10075	broad.mit.edu	37	chrX	53587255	53587255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggtcctctgactgcgccCgatgccctgggtgagacgag	15	12	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:53587255C>T	uc004dsp.2	-	56	8032	c.7630G>A	c.(7630-7632)GGG>AGG	p.G2544R	HUWE1_uc004dsn.2_Missense_Mutation_p.G1368R	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2544					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						TGACTGCGCCCGATGCCCTGG	0.562													T	53587255	C	T	53587255	3	4	1	1	0	0	0	0	1	0	0	0	7461	652	23	1	5610	1	HUWE1	23	53587255	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1947559	53587255	101683305	1470	1470											
HUWE1	10075	broad.mit.edu	37	chrX	53589856	53589856	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcttcatccatcagcacGtcctcttgtgattcatcctc	7	14	4	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:53589856G>A	uc004dsp.2	-	53	7542	c.7140C>T	c.(7138-7140)GAC>GAT	p.D2380D	HUWE1_uc004dsn.2_Silent_p.D1204D	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2380	Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CCATCAGCACGTCCTCTTGTG	0.547													A	53589856	G	A	53589856	2	1	1	1	0	0	0	0	0	0	0	1	7461	1136	40	1		1	HUWE1	23	53589856	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2601	53589856	101680704	1471	1471											
HUWE1	10075	broad.mit.edu	37	chrX	53631775	53631775	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagaccctcttgaaggacTttgggttcatgtgacagtgt	13	7	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:53631775T>G	uc004dsp.2	-	26	2919	c.2517A>C	c.(2515-2517)AAA>AAC	p.K839N		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	839					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CTTGAAGGACTTTGGGTTCAT	0.448													G	53631775	T	G	53631775	3	3	1	1	0	0	0	0	1	0	0	0	7461	1606	56	5	10843	5	HUWE1	23	53631775	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	41919	53631775	101638785	1472	1472											
VSIG4	11326	broad.mit.edu	37	chrX	65242699	65242699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacctggctgcttcgtagaCatgctctagaaaaaaaggag	10	8	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:65242699C>T	uc004dwh.2	-	7	1073	c.946G>A	c.(946-948)GTC>ATC	p.V316I	VSIG4_uc004dwi.2_Missense_Mutation_p.V222I|VSIG4_uc010nkq.1_Intron|VSIG4_uc004dwj.2_Missense_Mutation_p.V316I|VSIG4_uc011moy.1_Missense_Mutation_p.V222I|VSIG4_uc004dwk.2_Missense_Mutation_p.V316I|VSIG4_uc004dwl.2_Missense_Mutation_p.V212I	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	316	Cytoplasmic (Potential).				complement activation, alternative pathway	integral to membrane	protein binding				0						GCTTCGTAGACATGCTCTAGA	0.473													T	65242699	C	T	65242699	3	4	1	1	0	0	0	0	1	0	0	0	17222	478	17	4	265	4	VSIG4	23	65242699	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	11610924	65242699	90027861	1473	1473											
STARD8	9754	broad.mit.edu	37	chrX	67941416	67941416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttggcagcagcacaagccGccaccttgctgctccccgat	11	16	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:67941416G>A	uc004dxa.2	+	9	2419	c.2047G>A	c.(2047-2049)GCC>ACC	p.A683T	STARD8_uc004dxb.2_Missense_Mutation_p.A763T|STARD8_uc004dxc.3_Missense_Mutation_p.A683T	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	683	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6						AGCACAAGCCGCCACCTTGCT	0.562													A	67941416	G	A	67941416	3	1	1	1	0	0	0	0	1	0	0	0	15262	1087	38	1	2325	1	STARD8	23	67941416	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2698717	67941416	87329144	1474	1474											
AWAT1	158833	broad.mit.edu	37	chrX	69455639	69455639	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaccagtgctttactttgcCtggttgttcctggactggaa	10	10	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:69455639C>A	uc004dxy.2	+	2	191	c.150C>A	c.(148-150)GCC>GCA	p.A50A		NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN	wax synthase 1	50	Helical; (Potential).				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			ovary(3)	3						TTTACTTTGCCTGGTTGTTCC	0.502													A	69455639	C	A	69455639	2	1	1	1	0	0	0	0	0	0	0	1	1234	668	24	5		5	AWAT1	23	69455639	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1514223	69455639	85814921	1475	1475											
GDPD2	54857	broad.mit.edu	37	chrX	69647041	69647041	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacagctgaatgcggagctActgtgtttgagactgatgtg	14	6	0	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:69647041A>G	uc004dyh.2	+	9	1008	c.757A>G	c.(757-759)ACT>GCT	p.T253A	GDPD2_uc010nkx.1_Missense_Mutation_p.T253A|GDPD2_uc010nky.1_Missense_Mutation_p.T39A|GDPD2_uc011mpk.1_Missense_Mutation_p.T253A|GDPD2_uc011mpl.1_Missense_Mutation_p.T174A|GDPD2_uc011mpm.1_Missense_Mutation_p.T174A	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN	osteoblast differentiation promoting factor	253	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			ovary(2)	2	Renal(35;0.156)					ATGCGGAGCTACTGTGTTTGA	0.582													G	69647041	A	G	69647041	3	3	1	1	0	0	0	0	1	0	0	0	6324	391	14	3	787	3	GDPD2	23	69647041	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	191402	69647041	85623519	1476	1476											
DLG3	1741	broad.mit.edu	37	chrX	69719080	69719080	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgaaggaccgagtcaatgAtgacctgatctccgaatttc	9	9	2	4			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:69719080A>G	uc004dyi.1	+	15	2253	c.1925A>G	c.(1924-1926)GAT>GGT	p.D642G	DLG3_uc004dyj.1_Missense_Mutation_p.D337G|DLG3_uc011mpn.1_Missense_Mutation_p.D190G	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	642	Guanylate kinase-like.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					CGAGTCAATGATGACCTGATC	0.527													G	69719080	A	G	69719080	3	3	1	1	0	0	0	0	1	0	0	0	4556	333	12	3	2271	3	DLG3	23	69719080	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	72039	69719080	85551480	1477	1477											
MED12	9968	broad.mit.edu	37	chrX	70349624	70349624	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcagtggtggtcggagGcagggtggccgcaacatctc	19	9	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:70349624G>A	uc004dyy.2	+	27	3985	c.3786G>A	c.(3784-3786)AGG>AGA	p.R1262R	MED12_uc011mpq.1_Silent_p.R1262R|MED12_uc004dyz.2_Silent_p.R1262R|MED12_uc004dza.2_Silent_p.R1109R|MED12_uc010nla.2_5'UTR	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1262					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					GTGGTCGGAGGCAGGGTGGCC	0.577											OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	70349624	G	A	70349624	2	1	1	1	0	0	0	0	0	0	0	1	9428	1194	42	2		2	MED12	23	70349624	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	630544	70349624	84920936	1478	1478											
NLGN3	54413	broad.mit.edu	37	chrX	70367985	70367985	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttcactgccaacttggataTcgtcgctacttacatccagg	8	12	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:70367985T>A	uc004dzd.1	+	1	586	c.386T>A	c.(385-387)ATC>AAC	p.I129N	NLGN3_uc010nlb.1_Missense_Mutation_p.I129N|NLGN3_uc004dzb.2_Missense_Mutation_p.I129N|NLGN3_uc004dzc.2_Missense_Mutation_p.I12N|NLGN3_uc011mps.1_Missense_Mutation_p.I129N|NLGN3_uc011mpr.1_Missense_Mutation_p.I129N	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	129	Extracellular (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)					AACTTGGATATCGTCGCTACT	0.582													A	70367985	T	A	70367985	3	1	1	1	0	0	0	0	1	0	0	0	10463	1435	50	5	388	5	NLGN3	23	70367985	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	18361	70367985	84902575	1479	1479											
ZMYM3	9203	broad.mit.edu	37	chrX	70462271	70462271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccactcgagagaacaccGtatctacaatggtcaagggg	10	12	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:70462271G>A	uc004dzh.1	-	23	3638	c.3551C>T	c.(3550-3552)ACG>ATG	p.T1184M	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.T1184M|ZMYM3_uc004dzj.1_Missense_Mutation_p.T1172M	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	1184					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)					AGAGAACACCGTATCTACAAT	0.547													A	70462271	G	A	70462271	3	1	1	1	0	0	0	0	1	0	0	0	17698	1145	40	1	573	1	ZMYM3	23	70462271	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	94286	70462271	84808289	1480	1480											
ITGB1BP2	26548	broad.mit.edu	37	chrX	70522261	70522261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatctccttatctatactagGgctgtactatgggaccacac	7	11	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:70522261G>A	uc004dzr.1	+	4	201	c.172G>A	c.(172-174)GGC>AGC	p.G58S	BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Missense_Mutation_p.G40S	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein 2	58	Cys-rich.|CHORD 1.				muscle organ development|signal transduction		SH3 domain binding			ovary(1)	1	Renal(35;0.156)					TCTATACTAGGGCTGTACTAT	0.443													A	70522261	G	A	70522261	3	1	1	1	0	0	0	0	1	0	0	0	7892	1246	43	4	186	4	ITGB1BP2	23	70522261	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	59990	70522261	84748299	1481	1481											
TAF1	6872	broad.mit.edu	37	chrX	70618474	70618474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagagatgcgaaaagaaCggcggaggattcaagagcaa	16	5	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:70618474C>T	uc004dzu.3	+	24	3721	c.3670C>T	c.(3670-3672)CGG>TGG	p.R1224W	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R1245W|TAF1_uc004dzv.3_Missense_Mutation_p.R398W	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1224	HMG box.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				GCGAAAAGAACGGCGGAGGAT	0.473													T	70618474	C	T	70618474	3	4	1	1	0	0	0	0	1	0	0	0	15510	527	19	1	3827	1	TAF1	23	70618474	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	96213	70618474	84652086	1482	1482											
OGT	8473	broad.mit.edu	37	chrX	70782825	70782825	+	Frame_Shift_Del	DEL	T	T	-													ttggcttatatgccccacacTttttttattggtgatcatgc							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:70782824_70782824CT>C	uc004eaa.2	+	15	2343	c.2105_2105CT>C	c.(2104-2106)actfs	p.T702fs	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Frame_Shift_Del_p.T692fs|OGT_uc004eac.3_Frame_Shift_Del_p.T563fs|OGT_uc004ead.3_Frame_Shift_Del_p.T321fs	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	702					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ATGCCCCACACTTTTTTTATT	0.398													-	70782825	T	-	70782825	7	5	1	1	0	1	0	1	0	0	0	0	10847	1596	56	0	2168	0	OGT	23	70782825	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	164351	70782825	84487735	1483	1483											
ACRC	93953	broad.mit.edu	37	chrX	70823685	70823685	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgacaatagtgatgattcGgatgttcccgacgacaacag	11	9	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:70823685G>A	uc004eae.2	+	8	1059	c.558G>A	c.(556-558)TCG>TCA	p.S186S	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	186	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					GTGATGATTCGGATGTTCCCG	0.498													A	70823685	G	A	70823685	2	1	1	1	0	0	0	0	0	0	0	1	171	1103	39	1		1	ACRC	23	70823685	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	40860	70823685	84446875	1484	1484											
PHKA1	5255	broad.mit.edu	37	chrX	71856206	71856206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcccatgtgtctgtagggtCgtccactgagtttcattcta	9	11	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:71856206C>T	uc004eax.3	-	15	1791	c.1490G>A	c.(1489-1491)CGA>CAA	p.R497Q	PHKA1_uc004eay.3_Missense_Mutation_p.R497Q|PHKA1_uc011mqi.1_Missense_Mutation_p.R497Q	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	497					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					TCTGTAGGGTCGTCCACTGAG	0.358													T	71856206	C	T	71856206	3	4	1	1	0	0	0	0	1	0	0	0	11843	884	31	1	2253	1	PHKA1	23	71856206	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1032521	71856206	83414354	1485	1485											
ZDHHC15	158866	broad.mit.edu	37	chrX	74649028	74649028	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaaaatccaatgcagttaTtaaccctaaaaaaaaagaaa	5	6	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:74649028T>C	uc004ecg.2	-	7	966	c.488A>G	c.(487-489)AAT>AGT	p.N163S	ZDHHC15_uc004ech.2_Missense_Mutation_p.N154S|ZDHHC15_uc011mqo.1_Intron	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15 isoform 1	163	DHHC-type.					integral to membrane	zinc ion binding			ovary(2)	2						AATGCAGTTATTAACCCTAAA	0.353													C	74649028	T	C	74649028	3	2	1	1	0	0	0	0	1	0	0	0	17602	1493	52	3	545	3	ZDHHC15	23	74649028	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	2792822	74649028	80621532	1486	1486											
MAGEE1	57692	broad.mit.edu	37	chrX	75649389	75649389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagggaccaagcacttccGtactgccaatccccggtgag	12	13	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:75649389G>A	uc004ecm.1	+	1	1273	c.1066G>A	c.(1066-1068)GTA>ATA	p.V356I		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	356	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						AAGCACTTCCGTACTGCCAAT	0.687													A	75649389	G	A	75649389	3	1	1	1	0	0	0	0	1	0	0	0	9185	1145	40	1	1068	1	MAGEE1	23	75649389	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1000361	75649389	79621171	1487	1487											
MAGT1	84061	broad.mit.edu	37	chrX	77112976	77112976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaaagttgatgaaagttgGagctgaattcatgtttagct	12	3	1	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:77112976G>A	uc004fof.2	-	4	567	c.505C>T	c.(505-507)CCA>TCA	p.P169S	MAGT1_uc004fog.3_RNA	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	137					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				upper_aerodigestive_tract(1)	1						ATGAAAGTTGGAGCTGAATTC	0.378													A	77112976	G	A	77112976	3	1	1	1	0	0	0	0	1	0	0	0	9196	1174	41	4	626	4	MAGT1	23	77112976	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1463587	77112976	78157584	1488	1488											
PGK1	5230	broad.mit.edu	37	chrX	77372817	77372817	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttctctataggttaaagcCgagccagccaaaatagaagc	8	9	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:77372817C>T	uc004ecz.3	+	5	598	c.426C>T	c.(424-426)GCC>GCT	p.A142A	PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Silent_p.A114A	NM_000291	NP_000282	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	142					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			upper_aerodigestive_tract(1)|ovary(1)	2						AGGTTAAAGCCGAGCCAGCCA	0.423													T	77372817	C	T	77372817	2	4	1	1	0	0	0	0	0	0	0	1	11790	639	23	1		1	PGK1	23	77372817	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	259841	77372817	77897743	1489	1489											
TBX22	50945	broad.mit.edu	37	chrX	79277874	79277874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcggagcagcctgagctgCgggagaaaaagggcggagag	20	7	0	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:79277874C>T	uc010nmg.1	+	2	240	c.106C>T	c.(106-108)CGG>TGG	p.R36W	TBX22_uc004edi.1_5'UTR|TBX22_uc004edj.1_Missense_Mutation_p.R36W	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	36					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						GCCTGAGCTGCGGGAGAAAAA	0.607													T	79277874	C	T	79277874	3	4	1	1	0	0	0	0	1	0	0	0	15655	759	27	1	108	1	TBX22	23	79277874	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1905057	79277874	75992686	1490	1490											
CYLC1	1538	broad.mit.edu	37	chrX	83129420	83129420	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggcacatctgcaaattcAaagatggaaggactggaatc	11	7	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:83129420A>G	uc004eei.1	+	4	1725	c.1704A>G	c.(1702-1704)TCA>TCG	p.S568S	CYLC1_uc004eeh.1_Silent_p.S567S	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	568					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						CTGCAAATTCAAAGATGGAAG	0.373													G	83129420	A	G	83129420	2	3	1	1	0	0	0	0	0	0	0	1	4141	117	5	3		3	CYLC1	23	83129420	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	3851546	83129420	72141140	1491	1491											
PCDH11X	27328	broad.mit.edu	37	chrX	91133016	91133016	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggtacagtaggactaatcActgtaactgatcctgattat	8	7	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:91133016A>G	uc004efk.1	+	2	2622	c.1777A>G	c.(1777-1779)ACT>GCT	p.T593A	PCDH11X_uc004efl.1_Missense_Mutation_p.T593A|PCDH11X_uc004efo.1_Missense_Mutation_p.T593A|PCDH11X_uc010nmv.1_Missense_Mutation_p.T593A|PCDH11X_uc004efm.1_Missense_Mutation_p.T593A|PCDH11X_uc004efn.1_Missense_Mutation_p.T593A|PCDH11X_uc004efh.1_Missense_Mutation_p.T593A|PCDH11X_uc004efj.1_Missense_Mutation_p.T593A	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	593	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						AGGACTAATCACTGTAACTGA	0.398													G	91133016	A	G	91133016	3	3	1	1	0	0	0	0	1	0	0	0	11508	159	6	3	1783	3	PCDH11X	23	91133016	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	8003596	91133016	64137544	1492	1492											
PCDH11X	27328	broad.mit.edu	37	chrX	91133119	91133119	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acaaactggtgtcatccgacCaaatatttcatttgatagag	7	8	2	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:91133119C>G	uc004efk.1	+	2	2725	c.1880C>G	c.(1879-1881)CCA>CGA	p.P627R	PCDH11X_uc004efl.1_Missense_Mutation_p.P627R|PCDH11X_uc004efo.1_Missense_Mutation_p.P627R|PCDH11X_uc010nmv.1_Missense_Mutation_p.P627R|PCDH11X_uc004efm.1_Missense_Mutation_p.P627R|PCDH11X_uc004efn.1_Missense_Mutation_p.P627R|PCDH11X_uc004efh.1_Missense_Mutation_p.P627R|PCDH11X_uc004efj.1_Missense_Mutation_p.P627R	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	627	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						GTCATCCGACCAAATATTTCA	0.383													G	91133119	C	G	91133119	3	3	1	1	0	0	0	0	1	0	0	0	11508	594	21	5	1886	5	PCDH11X	23	91133119	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	103	91133119	64137441	1493	1493											
PCDH19	57526	broad.mit.edu	37	chrX	99662949	99662949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacggtgcccaggcgcggcGggtcgccaccgtctagcgca	15	16	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:99662949G>A	uc010nmz.2	-	1	2323	c.647C>T	c.(646-648)CCG>CTG	p.P216L	PCDH19_uc004efw.3_Missense_Mutation_p.P216L|PCDH19_uc004efx.3_Missense_Mutation_p.P216L	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	216	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						CAGGCGCGGCGGGTCGCCACC	0.617													A	99662949	G	A	99662949	3	1	1	1	0	0	0	0	1	0	0	0	11514	1116	39	1	2823	1	PCDH19	23	99662949	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	8529830	99662949	55607611	1494	1494											
XKRX	402415	broad.mit.edu	37	chrX	100183185	100183185	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaggtggagaaaaggaTgctaaatggaaaagtaaatc	11	3	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:100183185T>C	uc004egn.2	-	1	714	c.109A>G	c.(109-111)ATC>GTC	p.I37V	XKRX_uc011mre.1_5'UTR	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	37	Helical; (Potential).					integral to membrane|plasma membrane				breast(1)	1						GAGAAAAGGATGCTAAATGGA	0.433													C	100183185	T	C	100183185	3	2	1	1	0	0	0	0	1	0	0	0	17436	1464	51	3	1252	3	XKRX	23	100183185	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	520236	100183185	55087375	1495	1495											
TAF7L	54457	broad.mit.edu	37	chrX	100532688	100532688	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctatttccttggttccatcTtcagcaatgacttcccaacc	4	14	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:100532688T>C	uc004ehb.2	-	9	867	c.855A>G	c.(853-855)GAA>GAG	p.E285E	TAF7L_uc004eha.2_Silent_p.E199E|TAF7L_uc004ehc.1_Silent_p.E199E	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN	TATA box binding protein-associated factor, RNA	285					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			breast(1)	1						TGGTTCCATCTTCAGCAATGA	0.473													C	100532688	T	C	100532688	2	2	1	1	0	0	0	0	0	0	0	1	15530	1606	56	3		3	TAF7L	23	100532688	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	349503	100532688	54737872	1496	1496											
BHLHB9	80823	broad.mit.edu	37	chrX	102004166	102004166	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcagagcctaagactctGggcaaagccatgggagattt	12	9	2	3			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:102004166G>C	uc010nog.2	+	4	814	c.243G>C	c.(241-243)CTG>CTC	p.L81L	BHLHB9_uc011mrq.1_Silent_p.L81L|BHLHB9_uc011mrr.1_Silent_p.L81L|BHLHB9_uc011mrs.1_Silent_p.L81L|BHLHB9_uc011mrt.1_Silent_p.L81L|BHLHB9_uc004ejo.2_Silent_p.L81L|BHLHB9_uc011mru.1_Silent_p.L81L|BHLHB9_uc011mrv.1_Silent_p.L81L	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	81						cytoplasm|nucleus	binding			ovary(2)	2						CTAAGACTCTGGGCAAAGCCA	0.522													C	102004166	G	C	102004166	2	2	1	1	0	0	0	0	0	0	0	1	1420	1335	47	5		5	BHLHB9	23	102004166	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1471478	102004166	53266394	1497	1497											
MORF4L2	9643	broad.mit.edu	37	chrX	102931578	102931578	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agccatggttttaattcttcAggaatcttcactttaacctc	5	10	4	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:102931578A>C	uc004ekw.2	-	4	1610	c.378T>G	c.(376-378)CCT>CCG	p.P126P	MORF4L2_uc004ela.2_Silent_p.P126P|MORF4L2_uc004ekx.2_Silent_p.P126P|MORF4L2_uc004elb.2_Silent_p.P126P|MORF4L2_uc004eky.2_Silent_p.P126P|MORF4L2_uc010nos.2_Silent_p.P126P|MORF4L2_uc004ekz.2_Silent_p.P126P|MORF4L2_uc011mry.1_Silent_p.P126P|MORF4L2_uc011mrz.1_Silent_p.P126P|MORF4L2_uc004elc.2_Silent_p.P126P|MORF4L2_uc004elf.2_Silent_p.P126P|MORF4L2_uc004ele.2_Silent_p.P126P|MORF4L2_uc011msa.1_Silent_p.P126P|MORF4L2_uc011msb.1_Silent_p.P126P|MORF4L2_uc011msc.1_Silent_p.P126P|MORF4L2_uc011msd.1_Silent_p.P126P|MORF4L2_uc004eld.2_Silent_p.P126P	NM_012286	NP_036418	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	126					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding				0						TTAATTCTTCAGGAATCTTCA	0.478													C	102931578	A	C	102931578	2	2	1	1	0	0	0	0	0	0	0	1	9707	175	7	5		5	MORF4L2	23	102931578	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	927412	102931578	52338982	1498	1498											
RNF128	79589	broad.mit.edu	37	chrX	106016301	106016301	+	Frame_Shift_Del	DEL	T	T	-													tttttttcgtttctgtgtccTtttttattattacggcggca							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:106016300_106016300CT>C	uc004eml.3	+	1	892	c.642_642CT>C	c.(640-642)tccfs	p.S214fs	RNF128_uc004emk.3_Frame_Shift_Del_p.S188fs	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	214				S -> P (in Ref. 1; AAK77554).		endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TTTCTGTGTCCTTTTTTATTA	0.393													-	106016301	T	-	106016301	7	5	1	1	0	1	0	1	0	0	0	0	13436	1609	56	0	1059	0	RNF128	23	106016301	Frame_Shift_Del	DEL	T	TCGA-B7-5816-01A-21D-1600-08	3084723	106016301	49254259	1499	1499											
TBC1D8B	54885	broad.mit.edu	37	chrX	106070451	106070451	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatctgtcatcattagcAtcaaaggaaaaacagctttt	6	8	4	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:106070451A>G	uc004emo.2	+	7	1252	c.1087A>G	c.(1087-1089)ATC>GTC	p.I363V	MORC4_uc004emp.3_Intron|TBC1D8B_uc004emm.2_Missense_Mutation_p.I363V|TBC1D8B_uc004emn.2_Missense_Mutation_p.I363V	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	363						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4						CATCATTAGCATCAAAGGAAA	0.373													G	106070451	A	G	106070451	3	3	1	1	0	0	0	0	1	0	0	0	15623	217	8	3	1113	3	TBC1D8B	23	106070451	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	54150	106070451	49200109	1500	1500											
IRS4	8471	broad.mit.edu	37	chrX	107977613	107977613	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcaacacaaaaataaagTctgaatcttcccccagactt	4	12	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:107977613T>C	uc004eoc.2	-	1	1995	c.1962A>G	c.(1960-1962)AGA>AGG	p.R654R		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	654						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						AAAAATAAAGTCTGAATCTTC	0.517													C	107977613	T	C	107977613	2	2	1	1	0	0	0	0	0	0	0	1	7842	1664	58	3		3	IRS4	23	107977613	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	1907162	107977613	47292947	1501	1501											
GUCY2F	2986	broad.mit.edu	37	chrX	108631747	108631747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaattcgaattcggaccGgcacttctggcatgtgccgc	12	13	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:108631747G>A	uc004eod.3	-	15	3203	c.2927C>T	c.(2926-2928)CCG>CTG	p.P976L	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	976	Guanylate cyclase.|Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						AATTCGGACCGGCACTTCTGG	0.448													A	108631747	G	A	108631747	3	1	1	1	0	0	0	0	1	0	0	0	6898	1116	39	1	419	1	GUCY2F	23	108631747	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	654134	108631747	46638813	1502	1502											
PAK3	5063	broad.mit.edu	37	chrX	110406208	110406208	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaagatgaagaggaAgaagaagaagaagatgaaaa	14	0	0	11			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:110406208A>G	uc004epa.2	+	6	606	c.579A>G	c.(577-579)GAA>GAG	p.E193E	PAK3_uc010npt.1_Silent_p.E178E|PAK3_uc010npu.1_Silent_p.E178E|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Silent_p.E178E|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Silent_p.E214E|PAK3_uc010npw.1_Silent_p.E199E	NM_001128173	NP_001121645	O75914	PAK3_HUMAN	p21-activated kinase 3 isoform d	193	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	p.P193Q(1)		lung(6)|ovary(3)|large_intestine(1)	10						atgaagaggaagaagaagaag	0.328										TSP Lung(19;0.15)			G	110406208	A	G	110406208	2	3	1	1	0	0	0	0	0	0	0	1	11402	69	3	3		3	PAK3	23	110406208	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1774461	110406208	44864352	1503	1503											
LHFPL1	340596	broad.mit.edu	37	chrX	111914340	111914340	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgccaccaggagcagcagAgcacagccggcacctgtcac	12	15	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:111914340A>G	uc004epq.2	-	2	612	c.279T>C	c.(277-279)GCT>GCC	p.A93A	LHFPL1_uc004epp.2_Silent_p.A116A|LHFPL1_uc010nqa.2_Intron|LHFPL1_uc010nqb.2_Silent_p.A93A	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1 precursor	93	Helical; (Potential).					integral to membrane					0						GGAGCAGCAGAGCACAGCCGG	0.582													G	111914340	A	G	111914340	2	3	1	1	0	0	0	0	0	0	0	1	8764	291	11	3		3	LHFPL1	23	111914340	Silent	SNP	A	TCGA-B7-5816-01A-21D-1600-08	1508132	111914340	43356220	1504	1504											
AGTR2	186	broad.mit.edu	37	chrX	115303748	115303748	+	Frame_Shift_Del	DEL	A	A	-													ggttacactgttttgttgtcAaaagggtcctaaaaaggttt							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:115303747_115303747CA>C	uc022cdd.1	+	0	214	c.214_214CA>C	c.(214-216)caafs	p.Q72fs	AGTR2_uc004eqh.4_Frame_Shift_Del_p.Q72fs	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	72					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						GTTTTGTTGTCAAAAGGGTCC	0.363													-	115303748	A	-	115303748	7	5	1	1	0	1	0	1	0	0	0	0	402	130	5	0	217	0	AGTR2	23	115303748	Frame_Shift_Del	DEL	A	TCGA-B7-5816-01A-21D-1600-08	3389408	115303748	39966812	1505	1505											
ZBTB33	10009	broad.mit.edu	37	chrX	119388799	119388799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgtctgacaagcttgcGgagacattttaacattcatt	8	8	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:119388799G>A	uc004esn.1	+	2	1757	c.1529G>A	c.(1528-1530)CGG>CAG	p.R510Q	ZBTB33_uc010nqm.1_Missense_Mutation_p.R510Q	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	kaiso	510	Interaction with CTNND1 (By similarity).|C2H2-type 1.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						ACAAGCTTGCGGAGACATTTT	0.368													A	119388799	G	A	119388799	3	1	1	1	0	0	0	0	1	0	0	0	17533	1116	39	1	1531	1	ZBTB33	23	119388799	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	4085051	119388799	35881761	1506	1506											
GLUD2	2747	broad.mit.edu	37	chrX	120181966	120181966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccagcacagccagcaccGcacgccctgcaagggaggta	13	16	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:120181966G>A	uc004eto.2	+	1	505	c.428G>A	c.(427-429)CGC>CAC	p.R143H		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	143					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)	AGCCAGCACCGCACGCCCTGC	0.567													A	120181966	G	A	120181966	3	1	1	1	0	0	0	0	1	0	0	0	6477	1087	38	1	430	1	GLUD2	23	120181966	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	793167	120181966	35088594	1507	1507											
ODZ1	10178	broad.mit.edu	37	chrX	124029834	124029834	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtagtttattaccattTtccccatcagacttcctttc	3	12	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:124029834T>G	uc004euj.2	-	2	538	c.474A>C	c.(472-474)GAA>GAC	p.E158D	ODZ1_uc011muj.1_Missense_Mutation_p.E158D|ODZ1_uc010nqy.2_Missense_Mutation_p.E158D	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	158	Teneurin N-terminal.|Cytoplasmic (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TATTACCATTTTCCCCATCAG	0.403													G	124029834	T	G	124029834	3	3	1	1	0	0	0	0	1	0	0	0	10834	1838	64	5	7848	5	ODZ1	23	124029834	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	3847868	124029834	31240726	1508	1508											
XPNPEP2	7512	broad.mit.edu	37	chrX	128879210	128879210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccaacatgacgagaggcGtgcgtggattacaggcttta	14	9	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:128879210G>A	uc004eut.1	+	4	510	c.266G>A	c.(265-267)CGT>CAT	p.R89H	XPNPEP2_uc011mum.1_Missense_Mutation_p.R89H	NM_003399	NP_003390	O43895	XPP2_HUMAN	X-prolyl aminopeptidase 2, membrane-bound	89					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0						GACGAGAGGCGTGCGTGGATT	0.498													A	128879210	G	A	128879210	3	1	1	1	0	0	0	0	1	0	0	0	17440	1145	40	1	280	1	XPNPEP2	23	128879210	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	4849376	128879210	26391350	1509	1509											
RAB33A	9363	broad.mit.edu	37	chrX	129318542	129318542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgctcttgtttgagacatCggccaaggaccccaaagaga	10	11	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:129318542C>T	uc004evl.2	+	2	806	c.542C>T	c.(541-543)TCG>TTG	p.S181L	RAB33A_uc010nre.2_RNA	NM_004794	NP_004785	Q14088	RB33A_HUMAN	Ras-related protein Rab-33A	181					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding				0						TTTGAGACATCGGCCAAGGAC	0.517													T	129318542	C	T	129318542	3	4	1	1	0	0	0	0	1	0	0	0	12922	893	31	1	548	1	RAB33A	23	129318542	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	439332	129318542	25952018	1510	1510											
ZNF280C	55609	broad.mit.edu	37	chrX	129380906	129380906	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctcatcctgagtttcTtctactttcttctgccatgg	5	13	6	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:129380906T>G	uc004evm.2	-	3	259	c.105A>C	c.(103-105)GAA>GAC	p.E35D	ZNF280C_uc010nrf.1_Missense_Mutation_p.E35D	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3						CCTGAGTTTCTTCTACTTTCT	0.373													G	129380906	T	G	129380906	3	3	1	1	0	0	0	0	1	0	0	0	17813	1606	56	5	2176	5	ZNF280C	23	129380906	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	62364	129380906	25889654	1511	1511											
IGSF1	3547	broad.mit.edu	37	chrX	130411114	130411114	+	Frame_Shift_Del	DEL	G	G	-													aataaagctcatatgctggtGgggggtggagcaattgaaag							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:130411113_130411113TG>T	uc004ewe.4	-	13	2706	c.2423_2423CA>A	c.(2422-2424)cacfs	p.H808fs	IGSF1_uc004ewd.3_Frame_Shift_Del_p.H803fs|IGSF1_uc022cdv.1_Frame_Shift_Del_p.H794fs|IGSF1_uc004ewf.2_Frame_Shift_Del_p.H783fs	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	803	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CATATGCTGGTGGGGGGTGGA	0.512													-	130411114	G	-	130411114	7	5	1	1	0	1	0	1	0	0	0	0	7596	1348	47	0	1631	0	IGSF1	23	130411114	Frame_Shift_Del	DEL	G	TCGA-B7-5816-01A-21D-1600-08	1030208	130411114	24859446	1512	1512											
PHF6	84295	broad.mit.edu	37	chrX	133551319	133551319	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatacattgaaaatatgtcaCgaggaatttacaagtaagaa	7	4	1	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:133551319C>T	uc004exj.2	+	9	1157	c.955C>T	c.(955-957)CGA>TGA	p.R319*	PHF6_uc004exk.2_Nonsense_Mutation_p.R319*|PHF6_uc011mvk.1_Nonsense_Mutation_p.R285*|PHF6_uc004exi.2_Nonsense_Mutation_p.R320*	NM_001015877	NP_001015877	Q8IWS0	PHF6_HUMAN	PHD finger protein 6 isoform 1	319	PHD-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					AAATATGTCACGAGGAATTTA	0.353													T	133551319	C	T	133551319	4	4	1	1	0	0	0	0	0	1	0	0	11838	528	19	1	1090	1	PHF6	23	133551319	Nonsense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	3140205	133551319	21719241	1513	1513											
SAGE1	55511	broad.mit.edu	37	chrX	134989196	134989196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattaatgtggcaggagctgGtactccagccatcagcacca	10	11	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:134989196G>A	uc004ezh.2	+	8	1015	c.848G>A	c.(847-849)GGT>GAT	p.G283D	SAGE1_uc010nry.1_Missense_Mutation_p.G252D|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	283										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GCAGGAGCTGGTACTCCAGCC	0.453													A	134989196	G	A	134989196	3	1	1	1	0	0	0	0	1	0	0	0	13809	1261	44	4	874	4	SAGE1	23	134989196	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1437877	134989196	20281364	1514	1514											
FHL1	2273	broad.mit.edu	37	chrX	135290003	135290003	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcacaaagactgcttcacCtgtagtaactgcaagcaagt	9	10	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:135290003C>A	uc004ezo.2	+	4	484	c.384C>A	c.(382-384)ACC>ACA	p.T128T	FHL1_uc010nrz.2_Silent_p.T128T|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Silent_p.T128T|FHL1_uc004ezq.2_Silent_p.T128T|FHL1_uc011mvy.1_Silent_p.T128T|FHL1_uc011mvz.1_Silent_p.T128T|FHL1_uc004ezn.2_Silent_p.T128T|FHL1_uc011mwa.1_Silent_p.T157T|FHL1_uc011mwb.1_RNA|FHL1_uc004ezp.2_Silent_p.T144T|FHL1_uc004ezr.2_Translation_Start_Site	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	four and a half LIM domains 1 isoform 1	128	LIM zinc-binding 2.		T -> TI (in XMPMA).		cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)					ACTGCTTCACCTGTAGTAACT	0.527													A	135290003	C	A	135290003	2	1	1	1	0	0	0	0	0	0	0	1	5878	668	24	5		5	FHL1	23	135290003	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	300807	135290003	19980557	1515	1515											
FGF13	2258	broad.mit.edu	37	chrX	137717647	137717647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttaggcagaaaatgagctGcaggcttgttcttcttcaca	10	8	3	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:137717647G>A	uc004fam.2	-	4	1234	c.572C>T	c.(571-573)GCA>GTA	p.A191V	FGF13_uc004fan.2_Missense_Mutation_p.A138V|FGF13_uc011mwi.1_Missense_Mutation_p.A172V|FGF13_uc004faq.2_Missense_Mutation_p.A201V|FGF13_uc004far.2_Missense_Mutation_p.A172V|FGF13_uc011mwj.1_Missense_Mutation_p.A201V|FGF13_uc011mwk.1_Missense_Mutation_p.A145V	NM_004114	NP_004105	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 1	191					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					AAAATGAGCTGCAGGCTTGTT	0.378													A	137717647	G	A	137717647	3	1	1	1	0	0	0	0	1	0	0	0	5842	1319	46	2	173	2	FGF13	23	137717647	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	2427644	137717647	17552913	1516	1516											
FGF13	2258	broad.mit.edu	37	chrX	137939823	137939824	+	Frame_Shift_Ins	INS	-	-	G													aatgtattcctgtgtgccagINSggggggcgtcatccagaact							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:137939822_137939823A>AG	uc004faq.3	-	1	244_245	c.68_69T>CT	c.(67-69)cctfs	p.P23fs	FGF13_uc011mwi.2_5'UTR|FGF13_uc004far.3_5'UTR|FGF13_uc011mwj.2_Frame_Shift_Ins_p.P23fs|FGF13_uc011mwk.2_Intron	NM_001139502	NP_001132974	Q92913	FGF13_HUMAN	Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 5, mRNA.	0					MAPKKK cascade|cell-cell signaling|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CCTGTGTGCCAGGGGGGGCGTC	0.431													G	137939824	-	G	137939823	7	5	1	1	0	1	1	0	0	0	0	0	5842	1000	35	0	942	0	FGF13	23	137939823	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	222176	137939823	17330737	1517	1517											
CDR1	1038	broad.mit.edu	37	chrX	139866222	139866222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccgggtcttccaggaaatCcgtgtcttccagcaagtcca	9	13	2	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:139866222C>T	uc004fbg.1	-	1	502	c.310G>A	c.(310-312)GAT>AAT	p.D104N	uc004fbf.1_RNA	NM_004065	NP_004056	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1,	104	17.|23 X 6 AA approximate repeats.										0	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCAGGAAATCCGTGTCTTCC	0.458													T	139866222	C	T	139866222	3	4	1	1	0	0	0	0	1	0	0	0	3171	855	30	4	482	4	CDR1	23	139866222	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1926399	139866222	15404338	1518	1518											
MAGEC3	139081	broad.mit.edu	37	chrX	140926121	140926121	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgctgctgccctgccactGggtgttggatgccaccttca	11	14	1	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:140926121G>T	uc011mwp.1	+	1	20	c.20G>T	c.(19-21)TGG>TTG	p.W7L		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	7										skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGCCACTGGGTGTTGGAT	0.408													T	140926121	G	T	140926121	3	4	1	1	0	0	0	0	1	0	0	0	9182	1357	47	5	22	5	MAGEC3	23	140926121	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	1059899	140926121	14344439	1519	1519											
MAGEC3	139081	broad.mit.edu	37	chrX	140953268	140953268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgagtagccccggaaaaaGgccacagataaggactattc	10	11	0	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:140953268G>A	uc011mwp.1	+	2	135	c.135G>A	c.(133-135)AAG>AAA	p.K45K		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	45										skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CCCGGAAAAAGGCCACAGATA	0.483													A	140953268	G	A	140953268	2	1	1	1	0	0	0	0	0	0	0	1	9182	991	35	4		4	MAGEC3	23	140953268	Silent	SNP	G	TCGA-B7-5816-01A-21D-1600-08	27147	140953268	14317292	1520	1520											
MAGEC1	9947	broad.mit.edu	37	chrX	140996354	140996354	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcaggaacattacctagAgtaccgggaggtgcccaact	13	10	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:140996354A>G	uc004fbt.2	+	4	3450	c.3164A>G	c.(3163-3165)GAG>GGG	p.E1055G	MAGEC1_uc010nsl.1_Missense_Mutation_p.E122G	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1055	MAGE.						protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CATTACCTAGAGTACCGGGAG	0.522										HNSCC(15;0.026)			G	140996354	A	G	140996354	3	3	1	1	0	0	0	0	1	0	0	0	9180	304	11	3	3170	3	MAGEC1	23	140996354	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	43086	140996354	14274206	1521	1521											
AFF2	2334	broad.mit.edu	37	chrX	148037708	148037708	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagtctcgggaattcatTgaaacagattcatctacatc	6	10	4	2			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:148037708T>C	uc004fcp.2	+	11	2612	c.2133T>C	c.(2131-2133)ATT>ATC	p.I711I	AFF2_uc004fcq.2_Silent_p.I701I|AFF2_uc004fcr.2_Silent_p.I672I|AFF2_uc011mxb.1_Silent_p.I676I|AFF2_uc004fcs.2_Silent_p.I678I|AFF2_uc011mxc.1_Silent_p.I352I	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	711					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAATTCATTGAAACAGATT	0.478													C	148037708	T	C	148037708	2	2	1	1	0	0	0	0	0	0	0	1	357	1800	63	3		3	AFF2	23	148037708	Silent	SNP	T	TCGA-B7-5816-01A-21D-1600-08	7041354	148037708	7232852	1522	1522											
MAGEA11	4110	broad.mit.edu	37	chrX	148797293	148797293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaggccaacctggaggaCaggagtcccaggagaaccca	13	12	0	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:148797293C>T	uc004fdq.2	+	4	324	c.222C>T	c.(220-222)GAC>GAT	p.D74D	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Silent_p.D45D	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	74						cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACCTGGAGGACAGGAGTCCCA	0.498													T	148797293	C	T	148797293	2	4	1	1	0	0	0	0	0	0	0	1	9165	477	17	4		4	MAGEA11	23	148797293	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	759585	148797293	6473267	1523	1523											
GABRE	2564	broad.mit.edu	37	chrX	151138713	151138713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggatagtgttcaggatgCgagaggcttctggcagtttg	15	6	3	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:151138713C>T	uc004ffi.2	-	2	272	c.218G>A	c.(217-219)CGC>CAC	p.R73H	GABRE_uc011myd.1_RNA|GABRE_uc011mye.1_RNA	NM_004961	NP_004952	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor,	73	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					GTTCAGGATGCGAGAGGCTTC	0.547													T	151138713	C	T	151138713	3	4	1	1	0	0	0	0	1	0	0	0	6170	768	27	1	1334	1	GABRE	23	151138713	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	2341420	151138713	4131847	1524	1524											
HAUS7	55559	broad.mit.edu	37	chrX	152722663	152722663	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactggtccatgaagtgtagCtgcttctgggcgcaggcaca	13	10	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:152722663C>T	uc004fho.1	-	5	966	c.408G>A	c.(406-408)CAG>CAA	p.Q136Q	HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA|HAUS7_uc004fhn.1_Silent_p.Q136Q|HAUS7_uc004fhp.1_RNA|HAUS7_uc011myq.1_RNA	NM_017518	NP_059988	Q99871	HAUS7_HUMAN	HAUS augmin-like complex subunit 7	136					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding				0						TGAAGTGTAGCTGCTTCTGGG	0.602													T	152722663	C	T	152722663	2	4	1	1	0	0	0	0	0	0	0	1	6971	796	28	2		2	HAUS7	23	152722663	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	1583950	152722663	2547897	1525	1525											
DUSP9	1852	broad.mit.edu	37	chrX	152915490	152915490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgcttggcgggggtcagCcgttctgtcaccgtcactgt	13	13	4	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:152915490C>T	uc004fhx.3	+	4	1089	c.885C>T	c.(883-885)AGC>AGT	p.S295S	DUSP9_uc004fhy.3_Silent_p.S295S	NM_001395	NP_001386	Q99956	DUS9_HUMAN	dual specificity phosphatase 9	295	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGGGGTCAGCCGTTCTGTCA	0.607													T	152915490	C	T	152915490	2	4	1	1	0	0	0	0	0	0	0	1	4832	738	26	2		2	DUSP9	23	152915490	Silent	SNP	C	TCGA-B7-5816-01A-21D-1600-08	192827	152915490	2355070	1526	1526											
PDZD4	57595	broad.mit.edu	37	chrX	153068923	153068923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccaggatcttcttgttcCgcttcttcatggttttgcgg	10	10	4	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:153068923C>T	uc004fiz.1	-	8	2445	c.2195G>A	c.(2194-2196)CGG>CAG	p.R732Q	PDZD4_uc004fiy.1_Missense_Mutation_p.R657Q|PDZD4_uc004fix.2_Missense_Mutation_p.R636Q|PDZD4_uc004fja.1_Missense_Mutation_p.R738Q|PDZD4_uc011mze.1_Missense_Mutation_p.R623Q	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	732						cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCTTGTTCCGCTTCTTCAT	0.602													T	153068923	C	T	153068923	3	4	1	1	0	0	0	0	1	0	0	0	11703	652	23	1	118	1	PDZD4	23	153068923	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	153433	153068923	2201637	1527	1527											
TKTL1	8277	broad.mit.edu	37	chrX	153537725	153537725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtttgtggatgtggcaacagGatggctcggacaaggactgg	17	6	0	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:153537725G>A	uc004fkg.2	+	3	467	c.281G>A	c.(280-282)GGA>GAA	p.G94E	TKTL1_uc011mzl.1_Missense_Mutation_p.G88E|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Missense_Mutation_p.G38E	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	94					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGGCAACAGGATGGCTCGGA	0.542													A	153537725	G	A	153537725	3	1	1	1	0	0	0	0	1	0	0	0	15932	1174	41	4	291	4	TKTL1	23	153537725	Missense_Mutation	SNP	G	TCGA-B7-5816-01A-21D-1600-08	468802	153537725	1732835	1528	1528											
FLNA	2316	broad.mit.edu	37	chrX	153592920	153592920	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggtggaagtcctggggcgCgtcacggatgtcagccatga	17	9	2	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:153592920C>A	uc004fkk.2	-	13	2245	c.1996G>T	c.(1996-1998)GCG>TCG	p.A666S	FLNA_uc010nuu.1_Missense_Mutation_p.A666S	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	666					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.A666A(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCTGGGGCGCGTCACGGATG	0.627													A	153592920	C	A	153592920	3	1	1	1	0	0	0	0	1	0	0	0	5933	768	27	5	6091	5	FLNA	23	153592920	Missense_Mutation	SNP	C	TCGA-B7-5816-01A-21D-1600-08	55195	153592920	1677640	1529	1529											
DNASE1L1	1774	broad.mit.edu	37	chrX	153631310	153631311	+	Frame_Shift_Ins	INS	-	-	G													cggtgagctggaagctcgtgINSgggaagtcaaaggcagccgc							TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:153631309_153631310T>TG	uc004fks.1	-	6	938_939	c.747_748A>CA	c.(745-750)cccacgfs	p.P249fs	RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron|DNASE1L1_uc004fkt.1_Frame_Shift_Ins_p.P249fs|DNASE1L1_uc004fku.1_Frame_Shift_Ins_p.P249fs|DNASE1L1_uc004fkv.1_Frame_Shift_Ins_p.P249fs|DNASE1L1_uc004fkw.1_Frame_Shift_Ins_p.P249fs	NM_006730	NP_006721	P49184	DNSL1_HUMAN	Homo sapiens deoxyribonuclease I-like 1 (DNASE1L1), transcript variant 1, mRNA.	249					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGAAGCTCGTGGGGAAGTCAA	0.683													G	153631311	-	G	153631310	7	5	1	1	0	1	1	0	0	0	0	0	4661	1335	47	0	169	0	DNASE1L1	23	153631310	Frame_Shift_Ins	INS	-	TCGA-B7-5816-01A-21D-1600-08	38390	153631310	1639250	1530	1530											
ATP6AP1	537	broad.mit.edu	37	chrX	153664118	153664118	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatctggatggggctgctcAcctccctgttcatgctcttc	10	14	4	0			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:153664118A>G	uc004flf.1	+	10	1355	c.1294A>G	c.(1294-1296)ACC>GCC	p.T432A	ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Missense_Mutation_p.T392A|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.3_5'Flank	NM_001183	NP_001174	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory	432	Helical; (Potential).				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(3)|breast(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGGCTGCTCACCTCCCTGTT	0.557													G	153664118	A	G	153664118	3	3	1	1	0	0	0	0	1	0	0	0	1165	159	6	3	1332	3	ATP6AP1	23	153664118	Missense_Mutation	SNP	A	TCGA-B7-5816-01A-21D-1600-08	32808	153664118	1606442	1531	1531											
FUNDC2	65991	broad.mit.edu	37	chrX	154279963	154279963	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttgcaaaccatactgggTacatcaaagttgactggcaa	9	9	1	1			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:154279963T>C	uc004fmw.2	+	4	529	c.379T>C	c.(379-381)TAC>CAC	p.Y127H		NM_023934	NP_076423	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	127						mitochondrion					0	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCATACTGGGTACATCAAAGT	0.403													C	154279963	T	C	154279963	3	2	1	1	0	0	0	0	1	0	0	0	6098	1638	57	3	393	3	FUNDC2	23	154279963	Missense_Mutation	SNP	T	TCGA-B7-5816-01A-21D-1600-08	615845	154279963	990597	1532	1532											
ZBTB48	3104	broad.mit.edu	37	chr1	6646027	6646027	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccaaatgtgggaagtgTtactttcggaaggagaacct	12	7	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:6646027T>C	uc009vmc.1	+	4	1104	c.981T>C	c.(979-981)TGT>TGC	p.C327C	ZBTB48_uc001anx.2_Silent_p.C327C|ZBTB48_uc009vmd.1_Silent_p.C327C|ZBTB48_uc001any.1_5'UTR	NM_005341	NP_005332	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	327	C2H2-type 2; degenerate.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GTGGGAAGTGTTACTTTCGGA	0.572													C	6646027	T	C	6646027	2	2	2	1	0	0	0	0	0	0	0	1	17546	1731	60	3		3	ZBTB48	1	6646027	Silent	SNP	T	TCGA-B7-5818-01A-11D-1600-08		6646027	242604594	1	1533											
VPS13D	55187	broad.mit.edu	37	chr1	12336395	12336395	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cactcagattaaagaaaagaTttttccccaggaggagcagc	9	9	1	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:12336395T>G	uc001atv.2	+	19	2891	c.2750T>G	c.(2749-2751)ATT>AGT	p.I917S	VPS13D_uc001atw.2_Missense_Mutation_p.I917S|VPS13D_uc001atx.2_Missense_Mutation_p.I105S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	917					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAAGAAAAGATTTTTCCCCAG	0.433											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	12336395	T	G	12336395	3	3	2	1	0	0	0	0	1	0	0	0	17189	1493	52	5	2820	5	VPS13D	1	12336395	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	5690368	12336395	236914226	2	1534											
KIF17	57576	broad.mit.edu	37	chr1	21031296	21031296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttggtggcctccttgagcCgctcgcccgtggccccggtc	13	17	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:21031296C>T	uc001bdr.3	-	5	885	c.767G>A	c.(766-768)CGG>CAG	p.R256Q	KIF17_uc001bds.3_Missense_Mutation_p.R256Q	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	256	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTCCTTGAGCCGCTCGCCCGT	0.682													T	21031296	C	T	21031296	3	4	2	1	0	0	0	0	1	0	0	0	8279	652	23	1	2366	1	KIF17	1	21031296	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	8694901	21031296	228219325	3	1535											
EIF4G3	8672	broad.mit.edu	37	chr1	21177780	21177780	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgttttatttcgctcagccTcagtgctgttcctctccaca	6	13	3	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:21177780T>G	uc001bec.2	-	23	3831	c.3575A>C	c.(3574-3576)GAG>GCG	p.E1192A	EIF4G3_uc010odi.1_Missense_Mutation_p.E796A|EIF4G3_uc010odj.1_Missense_Mutation_p.E1191A|EIF4G3_uc009vpz.2_Missense_Mutation_p.E912A|EIF4G3_uc001bed.2_Missense_Mutation_p.E1192A|EIF4G3_uc001bef.2_Missense_Mutation_p.E1228A|EIF4G3_uc001bee.2_Missense_Mutation_p.E1198A	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	1192					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCGCTCAGCCTCAGTGCTGTT	0.463													G	21177780	T	G	21177780	3	3	2	1	0	0	0	0	1	0	0	0	5038	1551	54	5	1222	5	EIF4G3	1	21177780	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	146484	21177780	228072841	4	1536											
ARID1A	8289	broad.mit.edu	37	chr1	27105931	27105932	+	Frame_Shift_Ins	INS	-	-	G													gctgcactggcggattggtgINSggggggacaccactgagcat					rs140055856		TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:27105930_27105931T>TG	uc001bmv.1	+	19	5914_5915	c.5541_5542T>TG	c.(5539-5544)ggtgggfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Ins_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Ins_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Ins_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(6)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								G	27105932	-	G	27105931	7	5	2	1	0	1	1	0	0	0	0	0	913	1348	47	0	5620	0	ARID1A	1	27105931	Frame_Shift_Ins	INS	-	TCGA-B7-5818-01A-11D-1600-08	5928151	27105931	222144690	5	1537											
FHL3	2275	broad.mit.edu	37	chr1	38465047	38465047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtacttgcgtccatacaggGactcgttgcattttgcacag	10	10	0	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:38465047G>A	uc001ccj.2	-	2	125	c.38C>T	c.(37-39)TCC>TTC	p.S13F	FHL3_uc001cck.2_Missense_Mutation_p.S13F|FHL3_uc001ccl.2_Missense_Mutation_p.S13F|FHL3_uc001ccm.2_Intron|FHL3_uc009vvl.1_Missense_Mutation_p.S13F	NM_004468	NP_004459	Q13643	FHL3_HUMAN	four and a half LIM domains 3	13	C4-type (Potential).				muscle organ development		zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCATACAGGGACTCGTTGCA	0.542													A	38465047	G	A	38465047	3	1	2	1	0	0	0	0	1	0	0	0	5880	1174	41	4	824	4	FHL3	1	38465047	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	11359116	38465047	210785574	6	1538											
ROR1	4919	broad.mit.edu	37	chr1	64608163	64608163	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaatcagggcgccagtgccAgccatggaattcccagtatc	10	13	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:64608163A>G	uc001dbj.2	+	7	1403	c.1004A>G	c.(1003-1005)CAG>CGG	p.Q335R	ROR1_uc001dbi.3_Missense_Mutation_p.Q335R|uc001dbl.2_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	335	Kringle.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						CGCCAGTGCCAGCCATGGAAT	0.527													G	64608163	A	G	64608163	3	3	2	1	0	0	0	0	1	0	0	0	13526	188	7	3	1030	3	ROR1	1	64608163	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	26143116	64608163	184642458	7	1539											
DIRAS3	9077	broad.mit.edu	37	chr1	68512316	68512316	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgattatgcacttgtcaagcAgcttctcagtggtgttgggc	12	8	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:68512316A>T	uc001ded.2	-	2	960	c.665T>A	c.(664-666)CTG>CAG	p.L222Q	uc001deb.1_Intron|uc001dec.1_Intron	NM_004675	NP_004666	O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	222					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			skin(1)	1						CTTGTCAAGCAGCTTCTCAGT	0.502													T	68512316	A	T	68512316	3	4	2	1	0	0	0	0	1	0	0	0	4532	188	7	5	28	5	DIRAS3	1	68512316	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	3904153	68512316	180738305	8	1540											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	76877904	76877904	+	Frame_Shift_Del	DEL	A	A	-													tttgctaaaaaaccctgattAttttttcaaggaagcgaata							TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:76877903_76877903TA>T	uc001dhh.2	+	2	587	c.424_424TA>T	c.(424-426)tatfs	p.Y142fs	ST6GALNAC3_uc001dhg.4_Frame_Shift_Del_p.Y142fs|ST6GALNAC3_uc010orh.1_Frame_Shift_Del_p.Y77fs	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.	142					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.Y142H(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AAACCCTGATTATTTTTTCAA	0.413													-	76877904	A	-	76877904	7	5	2	1	0	1	0	1	0	0	0	0	15224	449	16	0	435	0	ST6GALNAC3	1	76877904	Frame_Shift_Del	DEL	A	TCGA-B7-5818-01A-11D-1600-08	8365588	76877904	172372717	9	1541											
WDR63	126820	broad.mit.edu	37	chr1	85564286	85564286	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcagtctcttcaatagAaaatggacataagaaagtaa	8	6	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:85564286A>G	uc001dkt.2	+	13	1615	c.1424A>G	c.(1423-1425)GAA>GGA	p.E475G	WDR63_uc009wcl.2_Missense_Mutation_p.E436G	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	475										upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TCTTCAATAGAAAATGGACAT	0.348													G	85564286	A	G	85564286	3	3	2	1	0	0	0	0	1	0	0	0	17311	246	9	3	1470	3	WDR63	1	85564286	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	8686382	85564286	163686335	10	1542											
SYDE2	84144	broad.mit.edu	37	chr1	85630437	85630437	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atccaacaacatctttagggTtgcctaaattaaattaaatt	4	7	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:85630437T>A	uc009wcm.2	-	6	2906	c.2857A>T	c.(2857-2859)ACC>TCC	p.T953S		NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2	953	Rho-GAP.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|central_nervous_system(1)	2				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATCTTTAGGGTTGCCtaaatt	0.328													A	85630437	T	A	85630437	3	1	2	1	0	0	0	0	1	0	0	0	15433	1725	60	5	735	5	SYDE2	1	85630437	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	66151	85630437	163620184	11	1543											
COL24A1	255631	broad.mit.edu	37	chr1	86252065	86252065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgaattcctgggcttcctGgcaagcctgatgaacccttt	9	12	0	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:86252065G>A	uc001dlj.2	-	48	4073	c.4031C>T	c.(4030-4032)CCA>CTA	p.P1344L	COL24A1_uc001dli.2_Missense_Mutation_p.P480L|COL24A1_uc010osd.1_Missense_Mutation_p.P644L|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1344	Collagen-like 15.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGGGCTTCCTGGCAAGCCTGA	0.493													A	86252065	G	A	86252065	3	1	2	1	0	0	0	0	1	0	0	0	3683	1348	47	4	1165	4	COL24A1	1	86252065	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	621628	86252065	162998556	12	1544											
LRRC8C	84230	broad.mit.edu	37	chr1	90179007	90179007	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtccagtttacagtggactGtaatgtggacattcaggaca	12	7	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:90179007G>T	uc001dnl.3	+	3	1120	c.878G>T	c.(877-879)TGT>TTT	p.C293F		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member	293						endoplasmic reticulum membrane|integral to membrane				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ACAGTGGACTGTAATGTGGAC	0.383													T	90179007	G	T	90179007	3	4	2	1	0	0	0	0	1	0	0	0	9023	1377	48	5	884	5	LRRC8C	1	90179007	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	3926942	90179007	159071614	13	1545											
COL11A1	1301	broad.mit.edu	37	chr1	103471441	103471441	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggaagtccatcaaaccctcGatctccctgtaaaaccatca	5	15	3	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:103471441G>A	uc001dul.2	-	18	2116	c.1798C>T	c.(1798-1800)CGA>TGA	p.R600*	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Nonsense_Mutation_p.R612*|COL11A1_uc001dun.2_Nonsense_Mutation_p.R561*|COL11A1_uc009weh.2_Nonsense_Mutation_p.R484*	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	600	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCAAACCCTCGATCTCCCTGT	0.318													A	103471441	G	A	103471441	4	1	2	1	0	0	0	0	0	1	0	0	3667	1066	37	1	3822	1	COL11A1	1	103471441	Nonsense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	13292434	103471441	145779180	14	1546											
AKNAD1	254268	broad.mit.edu	37	chr1	109395176	109395176	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagacttcaaggccatccttTtttgaggtaaaactgtaatc	7	8	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:109395176T>G	uc001dwa.2	-	2	380	c.111A>C	c.(109-111)AAA>AAC	p.K37N	AKNAD1_uc010ovb.1_Intron|AKNAD1_uc001dwb.2_RNA	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	37										ovary(3)	3						GGCCATCCTTTTTTGAGGTAA	0.393													G	109395176	T	G	109395176	3	3	2	1	0	0	0	0	1	0	0	0	464	1838	64	5	2459	5	AKNAD1	1	109395176	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	5923735	109395176	139855445	15	1547											
GSTM2	2946	broad.mit.edu	37	chr1	110211094	110211094	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatacacagactcaagctaCgaggaaaagaagtacacgat	9	8	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:110211094C>T	uc001dyi.2	+	2	398	c.84C>T	c.(82-84)TAC>TAT	p.Y28Y	GSTM2_uc001dyj.2_Silent_p.Y28Y|GSTM2_uc010ovt.1_Silent_p.Y28Y|GSTM2_uc009wfk.2_RNA	NM_000848	NP_000839	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 isoform 1	28	GST N-terminal.				glutathione metabolic process|xenobiotic catabolic process	cytoplasm	glutathione transferase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	ACTCAAGCTACGAGGAAAAGA	0.587													T	110211094	C	T	110211094	2	4	2	1	0	0	0	0	0	0	0	1	6838	547	19	1		1	GSTM2	1	110211094	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	815918	110211094	139039527	16	1548											
CSDE1	7812	broad.mit.edu	37	chr1	115268968	115268968	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcacacaagttgcaacctGctgtccaggcctctgtttgt	9	13	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:115268968G>A	uc001efk.2	-	14	1970	c.1504C>T	c.(1504-1506)CAG>TAG	p.Q502*	CSDE1_uc001efi.2_Nonsense_Mutation_p.Q548*|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Nonsense_Mutation_p.Q471*|CSDE1_uc001efm.2_Nonsense_Mutation_p.Q517*|CSDE1_uc009wgv.2_Nonsense_Mutation_p.Q502*|CSDE1_uc001efn.2_Nonsense_Mutation_p.Q471*	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN	upstream of NRAS isoform 1	502	CSD 6.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGCAACCTGCTGTCCAGGC	0.398													A	115268968	G	A	115268968	4	1	2	1	0	0	0	0	0	1	0	0	3929	1328	46	2	920	2	CSDE1	1	115268968	Nonsense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	5057874	115268968	133981653	17	1549											
HSD3B2	3284	broad.mit.edu	37	chr1	119985586	119985586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcctgccaggacgtgtcGgtcgtcatccacaccgcctg	12	15	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:119985586G>A	uc001ehu.2	+	4	535	c.393G>A	c.(391-393)TCG>TCA	p.S131S				P26439	3BHS2_HUMAN	RecName: Full=3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; AltName: Full=3-beta-HSD II; Includes:   RecName: Full=3-beta-hydroxy-Delta(5)-steroid dehydrogenase;            EC=1.1.1.145;   AltName: Full=3-beta-hydroxy-5-ene steroid dehydrogenase;   AltName: Full=Progesterone reductase; Includes:   RecName: Full=Steroid Delta-isomerase;            EC=5.3.3.1;   AltName: Full=Delta-5-3-ketosteroid isomerase;	Error:Variant_position_missing_in_P26439_after_alignment					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	AGGACGTGTCGGTCGTCATCC	0.517													A	119985586	G	A	119985586	2	1	2	1	0	0	0	0	0	0	0	1	7391	1131	39	1		1	HSD3B2	1	119985586	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	4716618	119985586	129265035	18	1550											
PDE4DIP	9659	broad.mit.edu	37	chr1	144879446	144879446	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actcttcctgcttccctagcTggttctccaagggcttcctc	7	16	2	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:144879446T>G	uc001elw.3	-	27	4295	c.4004A>C	c.(4003-4005)CAG>CCG	p.Q1335P	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.Q1291P|PDE4DIP_uc001elv.3_Missense_Mutation_p.Q342P	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1335					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTTCCCTAGCTGGTTCTCCAA	0.542			T	PDGFRB	MPD								G	144879446	T	G	144879446	3	3	2	1	0	0	0	0	1	0	0	0	11643	1580	55	5	3108	5	PDE4DIP	1	144879446	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	24893860	144879446	104371175	19	1551											
ANKRD35	148741	broad.mit.edu	37	chr1	145562407	145562407	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctcctggcctcccagagcAgcggtctccgagggctgtgg	15	14	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:145562407A>G	uc001eob.1	+	10	2203	c.2095A>G	c.(2095-2097)AGC>GGC	p.S699G	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.S542G	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	699										ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTCCCAGAGCAGCGGTCTCCG	0.637													G	145562407	A	G	145562407	3	3	2	1	0	0	0	0	1	0	0	0	664	188	7	3	2133	3	ANKRD35	1	145562407	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	682961	145562407	103688214	20	1552											
FMO5	2330	broad.mit.edu	37	chr1	146684985	146684985	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagattcagtgaccacttccCattggcctgaagtggcaaaa	9	11	1	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:146684985C>T	uc001epi.2	-	4	766	c.377G>A	c.(376-378)TGG>TAG	p.W126*	FMO5_uc001eph.3_Nonsense_Mutation_p.W126*|FMO5_uc001epj.2_Nonsense_Mutation_p.W126*|FMO5_uc001epk.3_Nonsense_Mutation_p.W126*	NM_001461	NP_001452	P49326	FMO5_HUMAN	flavin containing monooxygenase 5 isoform 1	126						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			ovary(3)	3	all_hematologic(923;0.0487)					GACCACTTCCCATTGGCCTGA	0.473													T	146684985	C	T	146684985	4	4	2	1	0	0	0	0	0	1	0	0	5958	595	21	4	1391	4	FMO5	1	146684985	Nonsense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	1122578	146684985	102565636	21	1553											
HORMAD1	84072	broad.mit.edu	37	chr1	150686581	150686581	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atattttttctgtaaagcatCataacatcctagcatcctaa	3	9	2	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:150686581C>T	uc001evk.1	-	5	365	c.259G>A	c.(259-261)GAT>AAT	p.D87N	HORMAD1_uc001evl.1_Missense_Mutation_p.D87N|HORMAD1_uc001evm.1_Missense_Mutation_p.D16N	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	HORMA domain containing 1	87	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TGTAAAGCATCATAACATCCT	0.254													T	150686581	C	T	150686581	3	4	2	1	0	0	0	0	1	0	0	0	7286	826	29	4	969	4	HORMAD1	1	150686581	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	4001596	150686581	98564040	22	1554											
MLLT11	10962	broad.mit.edu	37	chr1	151039727	151039727	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccctgtgagtagccagtaCagttcctttcttttctggag	10	10	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:151039727C>T	uc001ewq.2	+	2	912	c.27C>T	c.(25-27)TAC>TAT	p.Y9Y		NM_006818	NP_006809	Q13015	AF1Q_HUMAN	MLLT11 protein	9					positive regulation of apoptosis|positive regulation of mitochondrial depolarization|positive regulation of release of cytochrome c from mitochondria|positive regulation of transcription, DNA-dependent						0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTAGCCAGTACAGTTCCTTTC	0.507													T	151039727	C	T	151039727	2	4	2	1	0	0	0	0	0	0	0	1	9627	489	17	4		4	MLLT11	1	151039727	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	353146	151039727	98210894	23	1555											
TCHH	7062	broad.mit.edu	37	chr1	152085274	152085274	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctctcctgttcctgcctcTtctgcctgcgtcgttgccca	7	19	3	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:152085274T>G	uc001ezp.2	-	2	419	c.419A>C	c.(418-420)AAG>ACG	p.K140T	TCHH_uc009wne.1_Missense_Mutation_p.K140T	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	140					keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTGCCTCTTCTGCCTGCG	0.577													G	152085274	T	G	152085274	3	3	2	1	0	0	0	0	1	0	0	0	15697	1609	56	5	5416	5	TCHH	1	152085274	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	1045547	152085274	97165347	24	1556											
FLG2	388698	broad.mit.edu	37	chr1	152331335	152331335	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaaacatcaattacggtgAcaacacttctcaagaggtcg	8	9	2	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:152331335A>G	uc001ezw.3	-	2	99	c.26T>C	c.(25-27)GTC>GCC	p.V9A	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	9	S-100-like (By similarity).|EF-hand 1.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATTACGGTGACAACACTTCT	0.403													G	152331335	A	G	152331335	3	3	2	1	0	0	0	0	1	0	0	0	5923	275	10	3	7157	3	FLG2	1	152331335	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	246061	152331335	96919286	25	1557											
RUSC1	23623	broad.mit.edu	37	chr1	155297950	155297950	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttttaggagaccatcTagctggctgcccccgacagt	9	14	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:155297950T>C	uc001fkj.2	+	9	2653	c.2424T>C	c.(2422-2424)TCT>TCC	p.S808S	RAG1AP1_uc010pey.1_Intron|RUSC1_uc001fkk.2_Silent_p.S702S|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_Silent_p.S339S|RUSC1_uc001fkl.2_Silent_p.S398S|RUSC1_uc001fkp.2_Silent_p.S339S|RUSC1_uc001fkq.2_Silent_p.S233S|RUSC1_uc010pgb.1_Silent_p.S306S|RUSC1_uc009wqp.1_Silent_p.S333S|RUSC1_uc001fkn.2_Silent_p.S117S|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Silent_p.S339S|RUSC1_uc001fks.2_Intron	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	808						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GGAGACCATCTAGCTGGCTGC	0.592													C	155297950	T	C	155297950	2	2	2	1	0	0	0	0	0	0	0	1	13750	1509	53	3		3	RUSC1	1	155297950	Silent	SNP	T	TCGA-B7-5818-01A-11D-1600-08	2966615	155297950	93952671	26	1558											
FCRL4	83417	broad.mit.edu	37	chr1	157545319	157545319	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taacttttcattctcttaacTttcttcatccttagagctga	3	10	4	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:157545319T>C	uc001fqw.2	-	12	1679	c.1543A>G	c.(1543-1545)AGT>GGT	p.S515G	FCRL4_uc010phy.1_RNA	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	515	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)|skin(1)	4	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TTCTCTTAACTTTCTTCATCC	0.458													C	157545319	T	C	157545319	3	2	2	1	0	0	0	0	1	0	0	0	5797	1609	56	3	8	3	FCRL4	1	157545319	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	2247369	157545319	91705302	27	1559											
IFI16	3428	broad.mit.edu	37	chr1	159021773	159021773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctgatgtgaatgctgaccGaaacatggagatcccaaaag	12	8	0	4			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:159021773G>A	uc001ftg.2	+	9	2092	c.1802G>A	c.(1801-1803)CGA>CAA	p.R601Q	IFI16_uc010pis.1_Missense_Mutation_p.R601Q|IFI16_uc001fth.2_Missense_Mutation_p.R144Q|IFI16_uc010pit.1_Missense_Mutation_p.R200Q	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	657	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)					AATGCTGACCGAAACATGGAG	0.428													A	159021773	G	A	159021773	3	1	2	1	0	0	0	0	1	0	0	0	7511	1058	37	1	1832	1	IFI16	1	159021773	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	1476454	159021773	90228848	28	1560											
LY9	4063	broad.mit.edu	37	chr1	160793331	160793331	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacactcccctcaggcctgcCaggcaacagcctacacccac	7	20	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:160793331C>T	uc001fwu.2	+	8	1625	c.1575C>T	c.(1573-1575)GCC>GCT	p.A525A	LY9_uc001fwv.2_Silent_p.A511A|LY9_uc001fww.2_Silent_p.A435A|LY9_uc001fwx.2_Silent_p.A435A|LY9_uc001fwy.1_Silent_p.A323A|LY9_uc001fwz.2_Silent_p.A163A	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9 isoform a	525	Cytoplasmic (Potential).				cell adhesion|immunoglobulin mediated immune response	integral to membrane				ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCAGGCCTGCCAGGCAACAGC	0.572													T	160793331	C	T	160793331	2	4	2	1	0	0	0	0	0	0	0	1	9101	581	21	4		4	LY9	1	160793331	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	1771558	160793331	88457290	29	1561											
LRRC52	440699	broad.mit.edu	37	chr1	165513858	165513858	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aactcatctaccttgacctcAgctccaacaacctaacctcg	3	17	3	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:165513858A>C	uc001gde.2	+	1	381	c.325A>C	c.(325-327)AGC>CGC	p.S109R	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	109	LRR 3.|Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CCTTGACCTCAGCTCCAACAA	0.488													C	165513858	A	C	165513858	3	2	2	1	0	0	0	0	1	0	0	0	9010	188	7	5	327	5	LRRC52	1	165513858	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	4720527	165513858	83736763	30	1562											
CD247	919	broad.mit.edu	37	chr1	167404663	167404663	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggccttcctgagggttcttCcttctctgctaggaaagaca	10	11	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:167404663C>T	uc001gei.3	-	5	454	c.309G>A	c.(307-309)AGG>AGA	p.R103R	CD247_uc001gej.3_Silent_p.R102R|CD247_uc001gek.2_Silent_p.R103R	NM_198053	NP_932170	P20963	CD3Z_HUMAN	T-cell receptor zeta chain isoform 1 precursor	103	Cytoplasmic (Potential).|ITAM 2.				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity				0			LUSC - Lung squamous cell carcinoma(543;0.236)			GAGGGTTCTTCCTTCTCTGCT	0.507													T	167404663	C	T	167404663	2	4	2	1	0	0	0	0	0	0	0	1	2988	854	30	4		4	CD247	1	167404663	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	1890805	167404663	81845958	31	1563											
TBX19	9095	broad.mit.edu	37	chr1	168262459	168262459	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgcccatcgaatggtaacAaactgctccttccctgaaac	7	13	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:168262459A>C	uc001gfl.2	+	3	597	c.546A>C	c.(544-546)ACA>ACC	p.T182T	TBX19_uc001gfj.3_Silent_p.T113T	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	182	T-box.				anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)					GAATGGTAACAAACTGCTCCT	0.373													C	168262459	A	C	168262459	2	2	2	1	0	0	0	0	0	0	0	1	15651	117	5	5		5	TBX19	1	168262459	Silent	SNP	A	TCGA-B7-5818-01A-11D-1600-08	857796	168262459	80988162	32	1564											
FMO2	2327	broad.mit.edu	37	chr1	171168622	171168622	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgagctgagtaagaatgctGctcaggtgtgatgctctctg	13	7	2	4			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:171168622G>T	uc001ghk.1	+	5	739	c.622G>T	c.(622-624)GCT>TCT	p.A208S	FMO2_uc010pmd.1_Intron	NM_001460	NP_001451	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2	208					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAAGAATGCTGCTCAGGTGTG	0.502													T	171168622	G	T	171168622	3	4	2	1	0	0	0	0	1	0	0	0	5955	1319	46	5	636	5	FMO2	1	171168622	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	2906163	171168622	78081999	33	1565											
BAT2L2	23215	broad.mit.edu	37	chr1	171553241	171553241	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaaacatcaaatactcAgcccattcctatattgtatg	4	11	3	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:171553241A>G	uc010pmg.1	+	29	7816	c.7550A>G	c.(7549-7551)CAG>CGG	p.Q2517R	BAT2L2_uc010pmh.1_Missense_Mutation_p.Q1429R|BAT2L2_uc010pmi.1_Missense_Mutation_p.Q354R|BAT2L2_uc010pmj.1_Missense_Mutation_p.Q44R	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	2517	Gln-rich.						protein C-terminus binding				0						TCAAATACTCAGCCCATTCCT	0.473													G	171553241	A	G	171553241	3	3	2	1	0	0	0	0	1	0	0	0	1321	188	7	3	7660	3	BAT2L2	1	171553241	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	384619	171553241	77697380	34	1566											
RNASEL	6041	broad.mit.edu	37	chr1	182544700	182544700	+	Frame_Shift_Del	DEL	T	T	-													atacagggaagggtctccaaTttttaatttcatcctgaaat							TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:182544699_182544699AT>A	uc009wxz.2	-	6	2311	c.2054_2054AT>T	c.(2053-2055)attfs	p.I685fs		NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	685	KEN.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						AGGGTCTCCAATTTTTAATTT	0.393													-	182544700	T	-	182544700	7	5	2	1	0	1	0	1	0	0	0	0	13416	1493	52	0	176	0	RNASEL	1	182544700	Frame_Shift_Del	DEL	T	TCGA-B7-5818-01A-11D-1600-08	10991459	182544700	66705921	35	1567											
HMCN1	83872	broad.mit.edu	37	chr1	185932925	185932925	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgacctcagatggtaccTtatttatcaaaaatgcagct	8	8	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:185932925T>G	uc001grq.1	+	13	2225	c.1996T>G	c.(1996-1998)TTA>GTA	p.L666V	HMCN1_uc001grr.1_Missense_Mutation_p.L7V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	666	Ig-like C2-type 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AGATGGTACCTTATTTATCAA	0.333													G	185932925	T	G	185932925	3	3	2	1	0	0	0	0	1	0	0	0	7220	1606	56	5	2046	5	HMCN1	1	185932925	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	3388225	185932925	63317696	36	1568											
CFHR5	81494	broad.mit.edu	37	chr1	196964892	196964892	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaactctccaatggtgAagttaaggagataagaaaag	9	7	2	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:196964892A>C	uc001gts.3	+	5	781	c.653A>C	c.(652-654)GAA>GCA	p.E218A		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	218	Sushi 4.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						TCCAATGGTGAAGTTAAGGAG	0.323													C	196964892	A	C	196964892	3	2	2	1	0	0	0	0	1	0	0	0	3288	246	9	5	671	5	CFHR5	1	196964892	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	11031967	196964892	52285729	37	1569											
KIF14	9928	broad.mit.edu	37	chr1	200539132	200539132	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttcttcatcaaactcctacTcctgaaaaaagacaaaccat	3	12	3	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:200539132T>A	uc010ppk.1	-	23	4007	c.3568A>T	c.(3568-3570)AGT>TGT	p.S1190C	KIF14_uc010ppj.1_Missense_Mutation_p.S699C	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	1190	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						AAACTCCTACTCCTGAAAAAA	0.299													A	200539132	T	A	200539132	3	1	2	1	0	0	0	0	1	0	0	0	8276	1565	54	5	1410	5	KIF14	1	200539132	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	3574240	200539132	48711489	38	1570											
SYT2	127833	broad.mit.edu	37	chr1	202573584	202573584	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaaccaatgtgccctaccTgaccccctttcatgtccttc	4	18	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:202573584T>G	uc001gye.2	-	3	537	c.344A>C	c.(343-345)CAG>CCG	p.Q115P	SYT2_uc010pqb.1_Missense_Mutation_p.Q115P|SYT2_uc009xaf.2_Intron	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	synaptotagmin II	115	Cytoplasmic (Potential).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GTGCCCTACCTGACCCCCTTT	0.473													G	202573584	T	G	202573584	3	3	2	1	0	0	0	0	1	0	0	0	15471	1594	55	5	943	5	SYT2	1	202573584	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	2034452	202573584	46677037	39	1571											
CAMK1G	57172	broad.mit.edu	37	chr1	209778918	209778918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttgaccggatcctggagCggggtgtctacacagagaag	14	9	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:209778918C>T	uc001hhd.2	+	5	436	c.334C>T	c.(334-336)CGG>TGG	p.R112W	CAMK1G_uc001hhf.3_Missense_Mutation_p.R112W|CAMK1G_uc001hhe.2_Missense_Mutation_p.R112W	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	112	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		GATCCTGGAGCGGGGTGTCTA	0.488													T	209778918	C	T	209778918	3	4	2	1	0	0	0	0	1	0	0	0	2598	759	27	1	348	1	CAMK1G	1	209778918	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	7205334	209778918	39471703	40	1572											
PPP2R5A	5525	broad.mit.edu	37	chr1	212515555	212515555	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atatgaattcttcttgagatTtttggagagccctgatttcc	8	7	2	4			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:212515555T>G	uc001hjb.2	+	4	1080	c.506T>G	c.(505-507)TTT>TGT	p.F169C	PPP2R5A_uc010ptd.1_Missense_Mutation_p.F110C	NM_006243	NP_006234	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B	169					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TTCTTGAGATTTTTGGAGAGC	0.333													G	212515555	T	G	212515555	3	3	2	1	0	0	0	0	1	0	0	0	12392	1841	64	5	520	5	PPP2R5A	1	212515555	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	2736637	212515555	36735066	41	1573											
CENPF	1063	broad.mit.edu	37	chr1	214819864	214819864	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagctgatgaaaagaagcaGctctgtgtcttacaacaact	9	8	2	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:214819864G>T	uc001hkm.2	+	13	7125	c.6951G>T	c.(6949-6951)CAG>CAT	p.Q2317H		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2413	2-2.|Interaction with NDE1 and NDEL1.|Potential.|2 X 177 AA tandem repeats.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAAAGAAGCAGCTCTGTGTCT	0.453													T	214819864	G	T	214819864	3	4	2	1	0	0	0	0	1	0	0	0	3231	962	34	5	6997	5	CENPF	1	214819864	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	2304309	214819864	34430757	42	1574											
USH2A	7399	broad.mit.edu	37	chr1	216062370	216062370	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttgacttcacatccagaaGaatcggaggaactacaggtc	9	10	2	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:216062370G>A	uc001hku.1	-	41	8008	c.7621C>T	c.(7621-7623)CTT>TTT	p.L2541F		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2541	Fibronectin type-III 12.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACATCCAGAAGAATCGGAGGA	0.418										HNSCC(13;0.011)			A	216062370	G	A	216062370	3	1	2	1	0	0	0	0	1	0	0	0	17033	942	33	4	8115	4	USH2A	1	216062370	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	1242506	216062370	33188251	43	1575											
USH2A	7399	broad.mit.edu	37	chr1	216595483	216595483	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagcagagctgtgacaaaAagtgcttcggtctgggagtc	14	8	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:216595483A>C	uc001hku.1	-	2	583	c.196T>G	c.(196-198)TTT>GTT	p.F66V	USH2A_uc001hkv.2_Missense_Mutation_p.F66V	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	66	Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGTGACAAAAAGTGCTTCGG	0.498										HNSCC(13;0.011)			C	216595483	A	C	216595483	3	2	2	1	0	0	0	0	1	0	0	0	17033	14	1	5	15710	5	USH2A	1	216595483	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	533113	216595483	32655138	44	1576											
EPRS	2058	broad.mit.edu	37	chr1	220156722	220156722	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatgtcatggtattcaatcaTttctgactttgtgatgacct	7	7	4	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:220156722T>A	uc001hly.1	-	22	3379	c.3109A>T	c.(3109-3111)ATG>TTG	p.M1037L		NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	1037	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TATTCAATCATTTCTGACTTT	0.348													A	220156722	T	A	220156722	3	1	2	1	0	0	0	0	1	0	0	0	5191	1493	52	5	1473	5	EPRS	1	220156722	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	3561239	220156722	29093899	45	1577											
OBSCN	84033	broad.mit.edu	37	chr1	228563836	228563836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaatgggtccctacagCagcccctcggagcaagtcct	12	14	0	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:228563836C>T	uc009xez.1	+	99	22958	c.22914C>T	c.(22912-22914)AGC>AGT	p.S7638S	OBSCN_uc001hsr.1_Silent_p.S2267S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	7638	Fibronectin type-III 4.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GTCCCTACAGCAGCCCCTCGG	0.627													T	228563836	C	T	228563836	2	4	2	1	0	0	0	0	0	0	0	1	10812	709	25	2		2	OBSCN	1	228563836	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	8407114	228563836	20686785	46	1578											
LYST	1130	broad.mit.edu	37	chr1	235894451	235894451	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaactgccatgaggttggaTagtagatggggtcataccat	12	8	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:235894451T>C	uc001hxj.2	-	35	9003	c.8828A>G	c.(8827-8829)TAT>TGT	p.Y2943C	LYST_uc001hxi.2_Missense_Mutation_p.Y167C	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2943					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGAGGTTGGATAGTAGATGGG	0.383									Chediak-Higashi_syndrome				C	235894451	T	C	235894451	3	2	2	1	0	0	0	0	1	0	0	0	9128	1406	49	3	2653	3	LYST	1	235894451	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	7330615	235894451	13356170	47	1579											
CEP170	9859	broad.mit.edu	37	chr1	243349125	243349125	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttcctcactgttgggatTctctaactcaatggtataag	7	10	3	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:243349125T>C	uc001hzs.2	-	10	1930	c.1522A>G	c.(1522-1524)AAT>GAT	p.N508D	CEP170_uc001hzt.2_Intron|CEP170_uc001hzu.2_Intron	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	508						centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CTGTTGGGATTCTCTAACTCA	0.348													C	243349125	T	C	243349125	3	2	2	1	0	0	0	0	1	0	0	0	3250	1783	62	3	3306	3	CEP170	1	243349125	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	7454674	243349125	5901496	48	1580											
OR2M7	391196	broad.mit.edu	37	chr1	248487439	248487439	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggatccaggagaaggcagtCataagtccacaaattttggg	12	7	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:248487439C>T	uc010pzk.1	-	1	432	c.432G>A	c.(430-432)ATG>ATA	p.M144I		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	144	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAAGGCAGTCATAAGTCCAC	0.463													T	248487439	C	T	248487439	3	4	2	1	0	0	0	0	1	0	0	0	11014	826	29	4	509	4	OR2M7	1	248487439	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	5138314	248487439	763182	49	1581											
ASAP2	8853	broad.mit.edu	37	chr2	9508631	9508631	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaggactcagtcaaaccCaacccaggcagcgacatgta	10	13	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:9508631C>T	uc002qzh.2	+	16	1879	c.1539C>T	c.(1537-1539)CCC>CCT	p.P513P	ASAP2_uc002qzi.2_Silent_p.P513P	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	513	Arf-GAP.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						CAGTCAAACCCAACCCAGGCA	0.478													T	9508631	C	T	9508631	2	4	2	1	0	0	0	0	0	0	0	1	1011	581	21	4		4	ASAP2	2	9508631	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08		9508631	233690742	50	1582											
ROCK2	9475	broad.mit.edu	37	chr2	11338685	11338688	+	Frame_Shift_Del	DEL	TTTC	TTTC	-													tttaatagctgctgcgcttaTttcttcatctttcaatcttg							TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:11338684_11338687ATTTC>A	uc002rbd.1	-	24	3478_3481	c.3029_3032GAAAT>T	c.(3028-3033)gaaatafs	p.E1010fs		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	1010	RHOA binding (By similarity).				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TGCTGCGCTTATTTCTTCATCTTT	0.289													-	11338688	TTTC	-	11338685	7	5	2	1	0	1	0	1	0	0	0	0	13518	1493	52	0	1171	0	ROCK2	2	11338685	Frame_Shift_Del	DEL	TTTC	TCGA-B7-5818-01A-11D-1600-08	1830054	11338685	231860688	51	1583											
TRIM54	57159	broad.mit.edu	37	chr2	27522174	27522174	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcatgaagaagagaagatcAatatttactgcctgagctgt	10	6	1	5			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:27522174A>G	uc002rjo.2	+	3	403	c.403A>G	c.(403-405)AAT>GAT	p.N135D	TRIM54_uc002rjn.2_Missense_Mutation_p.N135D	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	ring finger protein 30 isoform 2	135	B box-type.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGAAGATCAATATTTACTG	0.567													G	27522174	A	G	27522174	3	3	2	1	0	0	0	0	1	0	0	0	16525	130	5	3	413	3	TRIM54	2	27522174	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	16183489	27522174	215677199	52	1584											
MPV17	4358	broad.mit.edu	37	chr2	27534778	27534778	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacatacctgtaatgaagGgggaccaggtagaagttggc	14	7	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:27534778G>A	uc002rjr.2	-	6	497	c.450C>T	c.(448-450)CCC>CCT	p.P150P	MPV17_uc002rjq.2_Intron|MPV17_uc002rjs.2_Silent_p.P150P|MPV17_uc002rjt.2_RNA	NM_002437	NP_002428	P39210	MPV17_HUMAN	Mpv17 protein	150	Helical; (Potential).				cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTAATGAAGGGGGACCAGGT	0.507													A	27534778	G	A	27534778	2	1	2	1	0	0	0	0	0	0	0	1	9745	1219	43	4		4	MPV17	2	27534778	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	12604	27534778	215664595	53	1585											
SPDYA	245711	broad.mit.edu	37	chr2	29039042	29039042	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaatacacataataacaaCaaatctaaacgccccaaagg	3	10	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:29039042C>T	uc002rmj.2	+	3	368	c.162C>T	c.(160-162)AAC>AAT	p.N54N	SPDYA_uc002rmi.2_Silent_p.N54N|SPDYA_uc002rmk.2_Silent_p.N54N|SPDYA_uc002rml.2_Silent_p.N54N	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN	speedy homolog A isoform 1	54					G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			upper_aerodigestive_tract(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					ATAATAACAACAAATCTAAAC	0.343													T	29039042	C	T	29039042	2	4	2	1	0	0	0	0	0	0	0	1	15026	477	17	4		4	SPDYA	2	29039042	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	1504264	29039042	214160331	54	1586											
CYP1B1	1545	broad.mit.edu	37	chr2	38302315	38302315	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgccaggcgagcgaacgAgaggtgagccgcctggccca	16	15	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:38302315A>G	uc002rqo.2	-	3	620	c.217T>C	c.(217-219)TCG>CCG	p.S73P		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B,	73					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			ovary(1)|central_nervous_system(1)	2		all_hematologic(82;0.21)			Estrone(DB00655)	CGAGCGAACGAGAGGTGAGCC	0.721													G	38302315	A	G	38302315	3	3	2	1	0	0	0	0	1	0	0	0	4151	304	11	3	1422	3	CYP1B1	2	38302315	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	9263273	38302315	204897058	55	1587											
MDH1	4190	broad.mit.edu	37	chr2	63834000	63834000	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattattttcaaacagaataAgacctggaagtttgttgaag	8	5	1	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:63834000A>C	uc002scj.1	+	9	940	c.884A>C	c.(883-885)AAG>ACG	p.K295T	MDH1_uc010ypv.1_Missense_Mutation_p.K313T|MDH1_uc010ypw.1_Missense_Mutation_p.K200T	NM_005917	NP_005908	P40925	MDHC_HUMAN	cytosolic malate dehydrogenase	295					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			kidney(2)	2					NADH(DB00157)	AAACAGAATAAGACCTGGAAG	0.333													C	63834000	A	C	63834000	3	2	2	1	0	0	0	0	1	0	0	0	9408	72	3	5	918	5	MDH1	2	63834000	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	25531685	63834000	179365373	56	1588											
SPRED2	200734	broad.mit.edu	37	chr2	65541156	65541156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacgtaggaggagtccgcgtCctccgaggggtccgggtact	16	12	0	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:65541156C>T	uc002sdr.3	-	6	1271	c.736G>A	c.(736-738)GAC>AAC	p.D246N	SPRED2_uc010fcw.2_Missense_Mutation_p.D243N	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	246	KBD.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3						GAGTCCGCGTCCTCCGAGGGG	0.632													T	65541156	C	T	65541156	3	4	2	1	0	0	0	0	1	0	0	0	15092	855	30	4	524	4	SPRED2	2	65541156	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	1707156	65541156	177658217	57	1589											
GPAT2	150763	broad.mit.edu	37	chr2	96690197	96690197	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccacagcctcgctcaggaaGacgggcagcagctcagcact	11	16	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:96690197G>T	uc002svf.2	-	15	1870	c.1647C>A	c.(1645-1647)GTC>GTA	p.V549V	GPAT2_uc002svd.2_Silent_p.V368V|GPAT2_uc002sve.2_Silent_p.V351V|GPAT2_uc002svg.2_Silent_p.V428V|GPAT2_uc010yuh.1_Silent_p.V478V|GPAT2_uc002svh.2_Silent_p.V549V	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2,	549					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity				0						CGCTCAGGAAGACGGGCAGCA	0.632													T	96690197	G	T	96690197	2	4	2	1	0	0	0	0	0	0	0	1	6589	929	33	5		5	GPAT2	2	96690197	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	31149041	96690197	146509176	58	1590											
TBC1D8	11138	broad.mit.edu	37	chr2	101638823	101638823	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaacgtcctttcggcgaggAtctccgtgtgggccccgcag	14	13	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:101638823A>G	uc010fiv.2	-	16	2767	c.2636T>C	c.(2635-2637)ATC>ACC	p.I879T	TBC1D8_uc002tau.3_Missense_Mutation_p.I636T	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	879					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3						TTCGGCGAGGATCTCCGTGTG	0.587													G	101638823	A	G	101638823	3	3	2	1	0	0	0	0	1	0	0	0	15622	333	12	3	806	3	TBC1D8	2	101638823	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	4948626	101638823	141560550	59	1591											
MAP4K4	9448	broad.mit.edu	37	chr2	102486168	102486168	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cggactactcctcatccagtGaggagtcggggacgacggat	14	11	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:102486168G>A	uc002tbg.2	+	20	2360	c.2305G>A	c.(2305-2307)GAG>AAG	p.E769K	MAP4K4_uc002tbc.2_Missense_Mutation_p.E850K|MAP4K4_uc002tbd.2_Missense_Mutation_p.E742K|MAP4K4_uc002tbe.2_Missense_Mutation_p.E688K|MAP4K4_uc002tbf.2_Missense_Mutation_p.E739K|MAP4K4_uc010yvy.1_Missense_Mutation_p.E765K|MAP4K4_uc002tbh.2_Missense_Mutation_p.E687K|MAP4K4_uc002tbi.2_Missense_Mutation_p.E572K|MAP4K4_uc010yvz.1_Missense_Mutation_p.E745K|MAP4K4_uc002tbk.2_Missense_Mutation_p.E224K|MAP4K4_uc002tbl.2_5'UTR	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	769					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						CTCATCCAGTGAGGAGTCGGG	0.582													A	102486168	G	A	102486168	3	1	2	1	0	0	0	0	1	0	0	0	9262	1291	45	4	2634	4	MAP4K4	2	102486168	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	847345	102486168	140713205	60	1592											
DDX18	8886	broad.mit.edu	37	chr2	118575280	118575280	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaagaagaaaaagagaAaaatggtgaatgatgctgag	12	1	0	7			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:118575280A>C	uc002tlh.1	+	2	445	c.346A>C	c.(346-348)AAA>CAA	p.K116Q		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	116	Poly-Lys.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4						GAAAAAGAGAAAAATGGTGAA	0.348													C	118575280	A	C	118575280	3	2	2	1	0	0	0	0	1	0	0	0	4345	15	1	5	352	5	DDX18	2	118575280	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	16089112	118575280	124624093	61	1593											
TMEM37	140738	broad.mit.edu	37	chr2	120194860	120194860	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtctttcgtcctctcctcCggcgggctcctgggttttgt	12	13	2	0	rs148949485		TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:120194860C>T	uc002tly.2	+	2	451	c.417C>T	c.(415-417)TCC>TCT	p.S139S		NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	139	Helical; (Potential).					integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)	1						TCCTCTCCTCCGGCGGGCTCC	0.547													T	120194860	C	T	120194860	2	4	2	1	0	0	0	0	0	0	0	1	16155	639	23	1		1	TMEM37	2	120194860	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	1619580	120194860	123004513	62	1594											
MYO7B	4648	broad.mit.edu	37	chr2	128392752	128392752	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggaaattgtggctcaacaTatctccagggaaggatgtga	13	7	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:128392752T>G	uc002top.2	+	42	5746	c.5693T>G	c.(5692-5694)ATA>AGA	p.I1898R	MYO7B_uc002tos.1_Missense_Mutation_p.I8R|MYO7B_uc002tot.2_Missense_Mutation_p.I8R	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	1898	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGGCTCAACATATCTCCAGGG	0.627													G	128392752	T	G	128392752	3	3	2	1	0	0	0	0	1	0	0	0	10083	1406	49	5	5855	5	MYO7B	2	128392752	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	8197892	128392752	114806621	63	1595											
FMNL2	114793	broad.mit.edu	37	chr2	153475530	153475530	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggatatcgccatactgccAgttgtggcttctggcacatt	12	10	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:153475530A>C	uc002tye.2	+	14	1852	c.1485A>C	c.(1483-1485)CCA>CCC	p.P495P	FMNL2_uc010fob.2_5'Flank|FMNL2_uc002tyf.2_5'Flank	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	495					actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3						CCATACTGCCAGTTGTGGCTT	0.507													C	153475530	A	C	153475530	2	2	2	1	0	0	0	0	0	0	0	1	5952	175	7	5		5	FMNL2	2	153475530	Silent	SNP	A	TCGA-B7-5818-01A-11D-1600-08	25082778	153475530	89723843	64	1596											
TANC1	85461	broad.mit.edu	37	chr2	160086957	160086957	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctccatccagcagcataAagatgtcaagttcaaccagt	7	11	3	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:160086957A>C	uc002uag.2	+	27	5294	c.5020A>C	c.(5020-5022)AAG>CAG	p.K1674Q	TANC1_uc010zcm.1_3'UTR|TANC1_uc010fon.2_Missense_Mutation_p.K518Q	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1674	Ser-rich.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						CAGCAGCATAAAGATGTCAAG	0.512													C	160086957	A	C	160086957	3	2	2	1	0	0	0	0	1	0	0	0	15541	15	1	5	5123	5	TANC1	2	160086957	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	6611427	160086957	83112416	65	1597											
LRP2	4036	broad.mit.edu	37	chr2	170081876	170081876	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttcttgaaatccaatctaAggccaggttcatagaaggcc	9	9	3	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:170081876A>G	uc002ues.2	-	33	5695	c.5482T>C	c.(5482-5484)TTA>CTA	p.L1828L		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1828	LDL-receptor class B 15.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATCCAATCTAAGGCCAGGTTC	0.388													G	170081876	A	G	170081876	2	3	2	1	0	0	0	0	0	0	0	1	8956	69	3	3		3	LRP2	2	170081876	Silent	SNP	A	TCGA-B7-5818-01A-11D-1600-08	9994919	170081876	73117497	66	1598											
PPIG	9360	broad.mit.edu	37	chr2	170488410	170488410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagctgatgagaaggaaaGgaaaaacagagagagagaaa	13	2	0	5			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:170488410G>A	uc002uez.2	+	11	1116	c.896G>A	c.(895-897)AGG>AAG	p.R299K	PPIG_uc010fpx.2_Missense_Mutation_p.R284K|PPIG_uc010fpy.2_Missense_Mutation_p.R292K|PPIG_uc002ufa.2_Missense_Mutation_p.R299K|PPIG_uc002ufb.2_Missense_Mutation_p.R299K|PPIG_uc002ufd.2_Missense_Mutation_p.R296K	NM_004792	NP_004783	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G	299					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|central_nervous_system(1)	3					L-Proline(DB00172)	gagaaggaaaggaaaaacaga	0.284													A	170488410	G	A	170488410	3	1	2	1	0	0	0	0	1	0	0	0	12324	1000	35	4	930	4	PPIG	2	170488410	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	406534	170488410	72710963	67	1599											
CYBRD1	79901	broad.mit.edu	37	chr2	172398188	172398188	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgcagttgctgccattcTtgcaattatctctgtggtgg	10	8	2	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:172398188T>G	uc002ugy.3	+	2	477	c.287T>G	c.(286-288)CTT>CGT	p.L96R	CYBRD1_uc002ugz.3_Intron	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1 isoform 1	96	Cytochrome b561.|Helical; Name=3; (Potential).				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding				0						GCTGCCATTCTTGCAATTATC	0.468													G	172398188	T	G	172398188	3	3	2	1	0	0	0	0	1	0	0	0	4134	1609	56	5	293	5	CYBRD1	2	172398188	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	1909778	172398188	70801185	68	1600											
OSBPL6	114880	broad.mit.edu	37	chr2	179247154	179247154	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccttccttaggcttcagAtgatgagtcttacatcagtg	8	10	3	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:179247154A>C	uc002ulx.2	+	16	1919	c.1541A>C	c.(1540-1542)GAT>GCT	p.D514A	OSBPL6_uc002ulw.2_Missense_Mutation_p.D447A|OSBPL6_uc002uly.2_Missense_Mutation_p.D539A|OSBPL6_uc010zfe.1_Missense_Mutation_p.D483A|OSBPL6_uc002ulz.2_Missense_Mutation_p.D478A|OSBPL6_uc002uma.2_Missense_Mutation_p.D518A	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	514					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TAGGCTTCAGATGATGAGTCT	0.353													C	179247154	A	C	179247154	3	2	2	1	0	0	0	0	1	0	0	0	11281	333	12	5	1717	5	OSBPL6	2	179247154	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	6848966	179247154	63952219	69	1601											
TTN	7273	broad.mit.edu	37	chr2	179478624	179478624	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agagtcactgcgtctttagtGatatcagaaggttctaggcg	12	7	4	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:179478624G>A	uc010zfg.1	-	212	41906	c.41682C>T	c.(41680-41682)ATC>ATT	p.I13894I	uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I7589I|TTN_uc010zfi.1_Silent_p.I7522I|TTN_uc010zfj.1_Silent_p.I7397I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14821							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTCTTTAGTGATATCAGAAG	0.428													A	179478624	G	A	179478624	2	1	2	1	0	0	0	0	0	0	0	1	16732	1280	45	4		4	TTN	2	179478624	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	231470	179478624	63720749	70	1602											
TTN	7273	broad.mit.edu	37	chr2	179665321	179665321	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accacaggtgtagggattccAgtcactctcacttggagtct	10	11	3	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:179665321A>G	uc002und.2	-	4	609	c.384T>C	c.(382-384)ACT>ACC	p.T128T	TTN_uc010zfg.1_Silent_p.T128T|TTN_uc010zfh.1_Silent_p.T128T|TTN_uc010zfi.1_Silent_p.T128T|TTN_uc010zfj.1_Silent_p.T128T|TTN_uc002unb.2_Silent_p.T128T			Q8WZ42	TITIN_HUMAN	Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.	128							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGGATTCCAGTCACTCTCA	0.522													G	179665321	A	G	179665321	2	3	2	1	0	0	0	0	0	0	0	1	16732	175	7	3		3	TTN	2	179665321	Silent	SNP	A	TCGA-B7-5818-01A-11D-1600-08	186697	179665321	63534052	71	1603											
FAM171B	165215	broad.mit.edu	37	chr2	187625939	187625939	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcattgtcattggattttTtgctgtactactttgttatt	7	5	2	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:187625939T>G	uc002ups.2	+	7	1224	c.1112T>G	c.(1111-1113)TTT>TGT	p.F371C	FAM171B_uc002upr.1_Missense_Mutation_p.F371C|FAM171B_uc002upt.2_5'Flank	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	371	Helical; (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						ATTGGATTTTTTGCTGTACTA	0.338													G	187625939	T	G	187625939	3	3	2	1	0	0	0	0	1	0	0	0	5491	1841	64	5	1138	5	FAM171B	2	187625939	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	7960618	187625939	55573434	72	1604											
ZSWIM2	151112	broad.mit.edu	37	chr2	187698698	187698698	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgtaaacgtgtgggaaAgatggcagcagctatcaaaa	12	5	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:187698698A>C	uc002upu.1	-	6	843	c.803T>G	c.(802-804)CTT>CGT	p.L268R		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	268	ZZ-type.				apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CGTGTGGGAAAGATGGCAGCA	0.358													C	187698698	A	C	187698698	3	2	2	1	0	0	0	0	1	0	0	0	18238	72	3	5	1114	5	ZSWIM2	2	187698698	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	72759	187698698	55500675	73	1605											
ASNSD1	54529	broad.mit.edu	37	chr2	190532199	190532199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagaactcgaatatgtcaCttaattcggccattggatac	8	8	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:190532199C>T	uc002uqt.2	+	4	1775	c.1341C>T	c.(1339-1341)CAC>CAT	p.H447H		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	447	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GAATATGTCACTTAATTCGGC	0.408													T	190532199	C	T	190532199	2	4	2	1	0	0	0	0	0	0	0	1	1049	564	20	4		4	ASNSD1	2	190532199	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	2833501	190532199	52667174	74	1606											
C2orf67	151050	broad.mit.edu	37	chr2	210908810	210908810	+	Frame_Shift_Del	DEL	T	T	-													tgtagtgtttaaaaatgctgTttcttttgaaggcaaagtct							TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:210908810delT	uc002vds.2	-	7	1982	c.1774delA	c.(1774-1776)ACAfs	p.T592fs	C2orf67_uc002vdt.2_Frame_Shift_Del_p.T592fs|C2orf67_uc002vdw.2_Frame_Shift_Del_p.T592fs|uc002vdu.1_Intron|C2orf67_uc002vdv.2_Frame_Shift_Del_p.T592fs|C2orf67_uc002vdx.1_Frame_Shift_Del_p.T592fs	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	592										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)		AAAAATGCTGTTTCTTTTGAA	0.303													-	210908810	T	-	210908810	7	5	2	1	0	1	0	1	0	0	0	0	2186	1725	60	0	1225	0	C2orf67	2	210908810	Frame_Shift_Del	DEL	T	TCGA-B7-5818-01A-11D-1600-08	20376611	210908810	32290563	75	1607											
CCDC108	255101	broad.mit.edu	37	chr2	219890820	219890820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcctcgtgcccgcaccGtcaggcaccaggatgggcac	14	15	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:219890820G>A	uc002vjl.1	-	14	2357	c.2273C>T	c.(2272-2274)ACG>ATG	p.T758M		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	758						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCCCGCACCGTCAGGCACCA	0.587													A	219890820	G	A	219890820	3	1	2	1	0	0	0	0	1	0	0	0	2743	1145	40	1	3592	1	CCDC108	2	219890820	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	8982010	219890820	23308553	76	1608											
DNPEP	23549	broad.mit.edu	37	chr2	220246268	220246268	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaaatggcacgtctcaccTtgtggaataaaggccggtgg	14	8	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:220246268T>C	uc010zlg.1	-	12	1242	c.1160A>G	c.(1159-1161)AAG>AGG	p.K387R	DNPEP_uc010zlf.1_RNA|DNPEP_uc002vle.2_Missense_Mutation_p.K379R|DNPEP_uc002vlf.1_Missense_Mutation_p.K365R|DNPEP_uc002vlh.2_Missense_Mutation_p.K326R|DNPEP_uc002vli.1_Missense_Mutation_p.K326R	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	369					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	ACGTCTCACCTTGTGGAATAA	0.438													C	220246268	T	C	220246268	3	2	2	1	0	0	0	0	1	0	0	0	4679	1623	56	3	337	3	DNPEP	2	220246268	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	355448	220246268	22953105	77	1609											
SCG2	7857	broad.mit.edu	37	chr2	224463773	224463773	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttggtagggattataatcTgggctgctttcttccttatg	10	8	2	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:224463773T>C	uc002vnm.2	-	2	361	c.228A>G	c.(226-228)CCA>CCG	p.P76P		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	76					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			ovary(1)	1		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GATTATAATCTGGGCTGCTTT	0.458													C	224463773	T	C	224463773	2	2	2	1	0	0	0	0	0	0	0	1	13891	1567	55	3		3	SCG2	2	224463773	Silent	SNP	T	TCGA-B7-5818-01A-11D-1600-08	4217505	224463773	18735600	78	1610											
DOCK10	55619	broad.mit.edu	37	chr2	225639814	225639814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgtaggcatatttggggtCcaaatccttggggtttacct	12	7	0	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:225639814C>T	uc010fwz.1	-	52	6060	c.5821G>A	c.(5821-5823)GAC>AAC	p.D1941N	DOCK10_uc002vob.2_Missense_Mutation_p.D1935N|DOCK10_uc002voa.2_Missense_Mutation_p.D597N	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1941	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TATTTGGGGTCCAAATCCTTG	0.498													T	225639814	C	T	225639814	3	4	2	1	0	0	0	0	1	0	0	0	4685	855	30	4	759	4	DOCK10	2	225639814	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	1176041	225639814	17559559	79	1611											
CCL20	6364	broad.mit.edu	37	chr2	228680227	228680227	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtattcttcatcctaaatTtattgtgggcttcacacggc	7	11	3	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:228680227T>G	uc002vpl.2	+	2	204	c.134T>G	c.(133-135)TTT>TGT	p.F45C	CCL20_uc002vpm.2_Missense_Mutation_p.F44C	NM_004591	NP_004582	P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20 isoform 1	45					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity				0		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CATCCTAAATTTATTGTGGGC	0.368													G	228680227	T	G	228680227	3	3	2	1	0	0	0	0	1	0	0	0	2892	1841	64	5	140	5	CCL20	2	228680227	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	3040413	228680227	14519146	80	1612											
SPHKAP	80309	broad.mit.edu	37	chr2	228884214	228884214	+	Silent	SNP	A	A	G													ctgccatctggactctgaacAacgacgattttggggagctc							TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:228884214A>G	uc002vpq.2	-	7	1403	c.1356T>C	c.(1354-1356)GTT>GTC	p.V452V	SPHKAP_uc002vpp.2_Silent_p.V452V|SPHKAP_uc010zlx.1_Silent_p.V452V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	452						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GACTCTGAACAACGACGATTT	0.507													G	228884214	A	G	228884214	2	3	2	1	0	0	0	0	0	0	0	1	15047	117	5	3		3	SPHKAP	2	228884214	Silent	SNP	A	TCGA-B7-5818-01A-11D-1600-08	203987	228884214	14315159	81	1613	3	2									
SPHKAP	80309	broad.mit.edu	37	chr2	228884224	228884224	+	Missense_Mutation	SNP	T	T	G													gactctgaacaacgacgattTtggggagctcattccatgac							TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:228884224T>G	uc002vpq.2	-	7	1393	c.1346A>C	c.(1345-1347)AAA>ACA	p.K449T	SPHKAP_uc002vpp.2_Missense_Mutation_p.K449T|SPHKAP_uc010zlx.1_Missense_Mutation_p.K449T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	449						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AACGACGATTTTGGGGAGCTC	0.502													G	228884224	T	G	228884224	3	3	2	1	0	0	0	0	1	0	0	0	15047	1841	64	5	3780	5	SPHKAP	2	228884224	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	10	228884224	14315149	82	1614	3	2									
SP140	11262	broad.mit.edu	37	chr2	231109759	231109759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaggctggtggaggagatGctgaagatgcacccagccta	14	9	0	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:231109759G>A	uc002vql.2	+	6	743	c.628G>A	c.(628-630)GCT>ACT	p.A210T	SP140_uc010zma.1_RNA|SP140_uc002vqk.2_Missense_Mutation_p.A210T|SP140_uc002vqn.2_Missense_Mutation_p.A210T|SP140_uc002vqm.2_Missense_Mutation_p.A210T|SP140_uc010fxl.2_Missense_Mutation_p.A210T	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	210					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGAGGAGATGCTGAAGATGC	0.453													A	231109759	G	A	231109759	3	1	2	1	0	0	0	0	1	0	0	0	14962	1319	46	2	767	2	SP140	2	231109759	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	2225535	231109759	12089614	83	1615											
SP100	6672	broad.mit.edu	37	chr2	231327182	231327182	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggactctgaaggatccactGacgttgatgagcccttagaa	11	9	1	5			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:231327182G>A	uc002vqt.2	+	10	1147	c.1006G>A	c.(1006-1008)GAC>AAC	p.D336N	SP100_uc002vqs.2_Missense_Mutation_p.D336N|SP100_uc002vqu.1_Missense_Mutation_p.D336N|SP100_uc010zmb.1_Missense_Mutation_p.D336N|SP100_uc002vqq.1_Missense_Mutation_p.D336N|SP100_uc002vqr.1_Missense_Mutation_p.D311N|SP100_uc010zmc.1_Missense_Mutation_p.D311N|SP100_uc002vqv.1_Missense_Mutation_p.D300N	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	336					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGATCCACTGACGTTGATGA	0.488													A	231327182	G	A	231327182	3	1	2	1	0	0	0	0	1	0	0	0	14960	1290	45	4	1044	4	SP100	2	231327182	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	217423	231327182	11872191	84	1616											
AQP12A	375318	broad.mit.edu	37	chr2	241631397	241631397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctctgtgaggcggccaggCgggcctccaaggccctgctc	14	17	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:241631397C>T	uc002vzu.2	+	1	136	c.67C>T	c.(67-69)CGG>TGG	p.R23W	AQP12A_uc002vzv.2_Intron	NM_198998	NP_945349	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	23						integral to membrane	transporter activity				0		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGCGGCCAGGCGGGCCTCCAA	0.687													T	241631397	C	T	241631397	3	4	2	1	0	0	0	0	1	0	0	0	824	759	27	1	69	1	AQP12A	2	241631397	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	10304215	241631397	1567976	85	1617											
PASK	23178	broad.mit.edu	37	chr2	242065717	242065717	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acgatcacgggcgtggaggtGacctggacgttcagccttgg	16	10	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:242065717G>A	uc002wao.1	-	10	2705	c.2613C>T	c.(2611-2613)GTC>GTT	p.V871V	PASK_uc010zol.1_Silent_p.V685V|PASK_uc010zom.1_Silent_p.V836V|PASK_uc010fzl.1_Silent_p.V871V|PASK_uc010zon.1_Silent_p.V652V|PASK_uc002wap.2_Silent_p.V414V|PASK_uc002waq.2_Silent_p.V871V	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	871					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCGTGGAGGTGACCTGGACGT	0.632													A	242065717	G	A	242065717	2	1	2	1	0	0	0	0	0	0	0	1	11472	1277	45	4		4	PASK	2	242065717	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	434320	242065717	1133656	86	1618											
TTLL3	26140	broad.mit.edu	37	chr3	9877073	9877073	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggatccaacaccaaataaaaAgaaacaagtgaagtatttgg	8	6	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:9877073A>T	uc003btg.2	+	13	2435	c.2219A>T	c.(2218-2220)AAG>ATG	p.K740M	ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_3'UTR|TTLL3_uc003btf.3_3'UTR|TTLL3_uc003bth.3_3'UTR|TTLL3_uc011atj.1_3'UTR|TTLL3_uc003btj.3_3'UTR|TTLL3_uc003bti.3_3'UTR	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	740					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			large_intestine(2)	2	Medulloblastoma(99;0.227)					CCAAATAAAAAGAAACAAGTG	0.557													T	9877073	A	T	9877073	3	4	2	1	0	0	0	0	1	0	0	0	16725	72	3	5	2265	5	TTLL3	3	9877073	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08		9877073	188145357	87	1619											
ZFYVE20	64145	broad.mit.edu	37	chr3	15116106	15116106	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgctgcaggtcctcctccTcagcctgcctccgggacagc	10	20	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:15116106T>G	uc003bzm.1	-	14	2152	c.1538A>C	c.(1537-1539)GAG>GCG	p.E513A	ZFYVE20_uc010hek.1_Missense_Mutation_p.E513A	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	513	UIM.|Potential.|Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						GTCCTCCTCCTCAGCCTGCCT	0.607													G	15116106	T	G	15116106	3	3	2	1	0	0	0	0	1	0	0	0	17663	1551	54	5	820	5	ZFYVE20	3	15116106	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	5239033	15116106	182906324	88	1620											
TRANK1	9881	broad.mit.edu	37	chr3	36888720	36888720	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctggattcaccatgagagAtcgaccctgagaagagcctg	11	10	2	4			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:36888720A>G	uc003cgj.2	-	6	3525	c.3223T>C	c.(3223-3225)TCT>CCT	p.S1075P		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1625					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						ACCATGAGAGATCGACCCTGA	0.453													G	36888720	A	G	36888720	3	3	2	1	0	0	0	0	1	0	0	0	16451	333	12	3	3940	3	TRANK1	3	36888720	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	21772614	36888720	161133710	89	1621											
TRANK1	9881	broad.mit.edu	37	chr3	36898084	36898084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactccactgtggctgtcgtGtcattgaggatgttaaaggc	12	8	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:36898084G>A	uc003cgj.2	-	3	1649	c.1347C>T	c.(1345-1347)GAC>GAT	p.D449D		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	999					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TGGCTGTCGTGTCATTGAGGA	0.532													A	36898084	G	A	36898084	2	1	2	1	0	0	0	0	0	0	0	1	16451	1368	48	4		4	TRANK1	3	36898084	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	9364	36898084	161124346	90	1622											
KBTBD5	131377	broad.mit.edu	37	chr3	42727322	42727322	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagccggagcgcgcgggcgAgctgcacctggaggaggtgt	20	11	0	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:42727322A>G	uc003clv.1	+	1	312	c.212A>G	c.(211-213)GAG>GGG	p.E71G		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	71	BTB.									ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CGCGCGGGCGAGCTGCACCTG	0.697													G	42727322	A	G	42727322	3	3	2	1	0	0	0	0	1	0	0	0	7996	304	11	3	214	3	KBTBD5	3	42727322	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	5829238	42727322	155295108	91	1623											
SNRK	54861	broad.mit.edu	37	chr3	43381977	43381977	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggggacatagcggatcgAgacgccattgtagagtacgt	14	8	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:43381977A>G	uc003cms.3	+	5	1262	c.930A>G	c.(928-930)CGA>CGG	p.R310R	SNRK_uc003cmt.3_Silent_p.R310R|SNRK_uc010hik.2_Silent_p.R310R|SNRK_uc011azr.1_Silent_p.R104R	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	SNF related kinase	310	UBA.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TAGCGGATCGAGACGCCATTG	0.488													G	43381977	A	G	43381977	2	3	2	1	0	0	0	0	0	0	0	1	14851	291	11	3		3	SNRK	3	43381977	Silent	SNP	A	TCGA-B7-5818-01A-11D-1600-08	654655	43381977	154640453	92	1624											
PTPN23	25930	broad.mit.edu	37	chr3	47453892	47453892	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgcatgcggcagcagagaaAgcacatgctgcaggagaagg	16	9	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:47453892A>T	uc003crf.1	+	23	4394	c.4298A>T	c.(4297-4299)AAG>ATG	p.K1433M	PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.K1303M|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1433	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGCAGAGAAAGCACATGCTG	0.637													T	47453892	A	T	47453892	3	4	2	1	0	0	0	0	1	0	0	0	12788	72	3	5	4388	5	PTPN23	3	47453892	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	4071915	47453892	150568538	93	1625											
DAG1	1605	broad.mit.edu	37	chr3	49570131	49570131	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacccaggagagtgccctcAgaggcgccgcccacagaagt	12	16	1	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:49570131A>G	uc003cxc.3	+	3	2605	c.2187A>G	c.(2185-2187)TCA>TCG	p.S729S		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	729	Extracellular (Potential).|Peptidase S72.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAGTGCCCTCAGAGGCGCCGC	0.587													G	49570131	A	G	49570131	2	3	2	1	0	0	0	0	0	0	0	1	4225	175	7	3		3	DAG1	3	49570131	Silent	SNP	A	TCGA-B7-5818-01A-11D-1600-08	2116239	49570131	148452299	94	1626											
GRM2	2912	broad.mit.edu	37	chr3	51752122	51752122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggactcgacaacgtcatcGctttgaagaccccatactcc	8	14	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:51752122G>A	uc010hlv.2	+	6	2852	c.2613G>A	c.(2611-2613)TCG>TCA	p.S871S	GRM2_uc003dbo.3_Silent_p.S253S|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	871	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CAACGTCATCGCTTTGAAGAC	0.582													A	51752122	G	A	51752122	2	1	2	1	0	0	0	0	0	0	0	1	6797	1074	38	1		1	GRM2	3	51752122	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	2181991	51752122	146270308	95	1627											
TLR9	54106	broad.mit.edu	37	chr3	52255383	52255383	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcggcagaggcgctggcgCagccgcacgtagcgggagcg	20	12	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:52255383C>A	uc003dda.1	-	2	3583	c.2949G>T	c.(2947-2949)CTG>CTT	p.L983L	TLR9_uc003ddb.2_Silent_p.L1080L	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	983	TIR.|Cytoplasmic (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GGCGCTGGCGCAGCCGCACGT	0.711													A	52255383	C	A	52255383	2	1	2	1	0	0	0	0	0	0	0	1	15955	697	25	5		5	TLR9	3	52255383	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	503261	52255383	145767047	96	1628											
CHDH	55349	broad.mit.edu	37	chr3	53852074	53852074	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtggtaggcgctgtcggcTtttgcccgcacaaaggcatc	15	11	0	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:53852074T>C	uc003dgz.2	-	9	1955	c.1515A>G	c.(1513-1515)AAA>AAG	p.K505K		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	choline dehydrogenase precursor	505					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			ovary(1)|central_nervous_system(1)	2		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CGCTGTCGGCTTTTGCCCGCA	0.587													C	53852074	T	C	53852074	2	2	2	1	0	0	0	0	0	0	0	1	3333	1606	56	3		3	CHDH	3	53852074	Silent	SNP	T	TCGA-B7-5818-01A-11D-1600-08	1596691	53852074	144170356	97	1629											
ASB14	142686	broad.mit.edu	37	chr3	57312815	57312815	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctgatccagcatgaagtTcacatcaaatccagcctgga	7	12	3	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:57312815T>G	uc003diq.2	-	8	1117	c.529A>C	c.(529-531)AAC>CAC	p.N177H	ASB14_uc003dip.1_Missense_Mutation_p.N56H	NM_001142733	NP_001136205	A6NK59	ASB14_HUMAN	ankyrin repeat and SOCS box-containing 14	341	ANK 8.				intracellular signal transduction						0				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		AGCATGAAGTTCACATCAAAT	0.473													G	57312815	T	G	57312815	3	3	2	1	0	0	0	0	1	0	0	0	1018	1783	62	5	754	5	ASB14	3	57312815	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	3460741	57312815	140709615	98	1630											
SLMAP	7871	broad.mit.edu	37	chr3	57898412	57898412	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaccagcagagagaagaAgcaacaaggttgcaaggtga	15	6	0	4			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:57898412A>C	uc003dje.1	+	18	2158	c.1953A>C	c.(1951-1953)GAA>GAC	p.E651D	SLMAP_uc003djd.1_Missense_Mutation_p.E634D|SLMAP_uc003djf.1_Missense_Mutation_p.E613D|SLMAP_uc003djg.1_Missense_Mutation_p.E245D|SLMAP_uc011bez.1_Missense_Mutation_p.E119D|SLMAP_uc011bfa.1_Missense_Mutation_p.E185D|SLMAP_uc003djh.2_Missense_Mutation_p.E144D|SLMAP_uc003dji.1_Missense_Mutation_p.E185D|SLMAP_uc011bfb.1_Missense_Mutation_p.E185D|SLMAP_uc011bfc.1_Missense_Mutation_p.E144D	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	651	Cytoplasmic (Potential).|Potential.				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AGAGAGAAGAAGCAACAAGGT	0.373													C	57898412	A	C	57898412	3	2	2	1	0	0	0	0	1	0	0	0	14749	69	3	5	1968	5	SLMAP	3	57898412	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	585597	57898412	140124018	99	1631											
ACOX2	8309	broad.mit.edu	37	chr3	58512199	58512199	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctggaccttacctggccAcctgcaggtagagcactgtg	12	13	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:58512199A>C	uc003dkl.2	-	10	1515	c.1340T>G	c.(1339-1341)GTG>GGG	p.V447G		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	acyl-Coenzyme A oxidase 2	447					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TTACCTGGCCACCTGCAGGTA	0.582													C	58512199	A	C	58512199	3	2	2	1	0	0	0	0	1	0	0	0	159	159	6	5	729	5	ACOX2	3	58512199	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	613787	58512199	139510231	100	1632											
RYBP	23429	broad.mit.edu	37	chr3	72428498	72428498	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttttcaactttctccttcTtctcctttttagggggtggt	8	10	4	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:72428498T>G	uc003dpe.2	-	2	326	c.209A>C	c.(208-210)AAG>ACG	p.K70T		NM_012234	NP_036366	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	80	Lys-rich.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding				0		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TTTCTCCTTCTTCTCCTTTTT	0.403													G	72428498	T	G	72428498	3	3	2	1	0	0	0	0	1	0	0	0	13766	1609	56	5	459	5	RYBP	3	72428498	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	13916299	72428498	125593932	101	1633											
ROBO2	6092	broad.mit.edu	37	chr3	77147286	77147286	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagggccggccaacgcccacCattgagtggtacaaagatgg	14	11	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:77147286C>A	uc003dpy.3	+	2	826	c.183C>A	c.(181-183)ACC>ACA	p.T61T	ROBO2_uc003dpz.2_Silent_p.T61T|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.T61T	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	61	Ig-like C2-type 1.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAACGCCCACCATTGAGTGGT	0.592													A	77147286	C	A	77147286	2	1	2	1	0	0	0	0	0	0	0	1	13514	594	21	5		5	ROBO2	3	77147286	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	4718788	77147286	120875144	102	1634											
ROBO2	6092	broad.mit.edu	37	chr3	77623656	77623656	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	actatgtttttcaggttgatCgccaaccccagtttatccaa	6	11	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:77623656C>G	uc003dpy.3	+	14	2621	c.1978C>G	c.(1978-1980)CGC>GGC	p.R660G	ROBO2_uc003dpz.2_Missense_Mutation_p.R664G|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.R664G	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	660	Fibronectin type-III 2.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCAGGTTGATCGCCAACCCCA	0.428													G	77623656	C	G	77623656	3	3	2	1	0	0	0	0	1	0	0	0	13514	884	31	5	2034	5	ROBO2	3	77623656	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	476370	77623656	120398774	103	1635											
CADM2	253559	broad.mit.edu	37	chr3	86114755	86114755	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattttcctgtcttttccagAtcctaatgctttggctggcc	7	11	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:86114755A>G	uc003dqj.2	+	9	1690	c.1064A>G	c.(1063-1065)GAT>GGT	p.D355G	CADM2_uc003dqk.2_Missense_Mutation_p.D324G|CADM2_uc003dql.2_Missense_Mutation_p.D357G	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D	355	Extracellular (Potential).				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TCTTTTCCAGATCCTAATGCT	0.363													G	86114755	A	G	86114755	3	3	2	1	0	0	0	0	1	0	0	0	2567	347	12	3	1169	3	CADM2	3	86114755	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	8491099	86114755	111907675	104	1636											
PROS1	5627	broad.mit.edu	37	chr3	93624914	93624914	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttacaagtgcaagtaaaAgaagcttttccatctttgca	8	7	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:93624914A>G	uc003drb.3	-	5	761	c.420T>C	c.(418-420)TCT>TCC	p.S140S	PROS1_uc010hoo.2_Silent_p.S9S|PROS1_uc003dqz.3_Silent_p.S9S	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	140	EGF-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TGCAAGTAAAAGAAGCTTTTC	0.428													G	93624914	A	G	93624914	2	3	2	1	0	0	0	0	0	0	0	1	12558	59	3	3		3	PROS1	3	93624914	Silent	SNP	A	TCGA-B7-5818-01A-11D-1600-08	7510159	93624914	104397516	105	1637											
C3orf26	84319	broad.mit.edu	37	chr3	99897207	99897207	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcagtctgtgcaagtcagAatccttgaaactgggccttt	10	10	3	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:99897207A>G	uc003dtl.2	+	10	958	c.815A>G	c.(814-816)GAA>GGA	p.E272G		NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	hypothetical protein LOC84319	272							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(1)	1						TGCAAGTCAGAATCCTTGAAA	0.388													G	99897207	A	G	99897207	3	3	2	1	0	0	0	0	1	0	0	0	2218	246	9	3	867	3	C3orf26	3	99897207	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	6272293	99897207	98125223	106	1638											
RG9MTD1	54931	broad.mit.edu	37	chr3	101284689	101284689	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaaatctcaccttagatcAaatgatacgtattttgttat	4	7	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:101284689A>G	uc003duz.2	+	2	1212	c.1064A>G	c.(1063-1065)CAA>CGA	p.Q355R		NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	RNA (guanine-9-) methyltransferase domain	355					tRNA processing	mitochondrion	methyltransferase activity|protein binding			ovary(1)	1						ACCTTAGATCAAATGATACGT	0.378													G	101284689	A	G	101284689	3	3	2	1	0	0	0	0	1	0	0	0	13271	130	5	3	1066	3	RG9MTD1	3	101284689	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	1387482	101284689	96737741	107	1639											
MYH15	22989	broad.mit.edu	37	chr3	108179190	108179190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaatgaagctcctttctttCgtttcttctccccaaatggt	7	11	3	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:108179190C>T	uc003dxa.1	-	18	2006	c.1949G>A	c.(1948-1950)CGA>CAA	p.R650Q		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	650	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						TCCTTTCTTTCGTTTCTTCTC	0.274													T	108179190	C	T	108179190	3	4	2	1	0	0	0	0	1	0	0	0	10034	884	31	1	3991	1	MYH15	3	108179190	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	6894501	108179190	89843240	108	1640											
PHLDB2	90102	broad.mit.edu	37	chr3	111603306	111603306	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atccacttggaagagcagacTttgatcattatactggccgg	10	9	1	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:111603306T>A	uc010hqa.2	+	2	793	c.382T>A	c.(382-384)TTT>ATT	p.F128I	PHLDB2_uc003dyc.2_Missense_Mutation_p.F155I|PHLDB2_uc003dyd.2_Missense_Mutation_p.F128I|PHLDB2_uc003dyg.2_Missense_Mutation_p.F128I|PHLDB2_uc003dyh.2_Missense_Mutation_p.F128I|PHLDB2_uc003dye.3_Missense_Mutation_p.F128I|PHLDB2_uc003dyf.3_Missense_Mutation_p.F128I	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	128						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						AAGAGCAGACTTTGATCATTA	0.438													A	111603306	T	A	111603306	3	1	2	1	0	0	0	0	1	0	0	0	11852	1609	56	5	469	5	PHLDB2	3	111603306	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	3424116	111603306	86419124	109	1641											
KIAA1407	57577	broad.mit.edu	37	chr3	113753930	113753930	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctccaagaaggccgatttTttcagggtcttttctattct	8	10	4	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:113753930T>G	uc003eax.2	-	6	807	c.660A>C	c.(658-660)AAA>AAC	p.K220N	KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.K198N|KIAA1407_uc011bip.1_Missense_Mutation_p.K207N	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	220	Potential.									ovary(2)	2						AGGCCGATTTTTTCAGGGTCT	0.428													G	113753930	T	G	113753930	3	3	2	1	0	0	0	0	1	0	0	0	8229	1838	64	5	2198	5	KIAA1407	3	113753930	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	2150624	113753930	84268500	110	1642											
POLQ	10721	broad.mit.edu	37	chr3	121228492	121228492	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatatctaaagtatcagcTggagaaagtgaagaagaaag	10	3	2	4			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:121228492T>C	uc003eee.3	-	12	2004	c.1875A>G	c.(1873-1875)CCA>CCG	p.P625P		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	625					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		AAGTATCAGCTGGAGAAAGTG	0.393								DNA_polymerases_(catalytic_subunits)					C	121228492	T	C	121228492	2	2	2	1	0	0	0	0	0	0	0	1	12208	1567	55	3		3	POLQ	3	121228492	Silent	SNP	T	TCGA-B7-5818-01A-11D-1600-08	7474562	121228492	76793938	111	1643											
CASR	846	broad.mit.edu	37	chr3	121981176	121981176	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccattgcccacgccttgCaagatatatatacctgctta	5	13	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:121981176C>T	uc003eev.3	+	4	1666	c.1294C>T	c.(1294-1296)CAA>TAA	p.Q432*	CASR_uc003eew.3_Nonsense_Mutation_p.Q432*	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	432	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCACGCCTTGCAAGATATATA	0.478													T	121981176	C	T	121981176	4	4	2	1	0	0	0	0	0	1	0	0	2682	711	25	2	1304	2	CASR	3	121981176	Nonsense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	752684	121981176	76041254	112	1644											
WDR5B	54554	broad.mit.edu	37	chr3	122133940	122133940	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccatatttttacagtctcatCaaaagatcccgagattataa	4	9	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:122133940C>T	uc003efa.1	-	1	943	c.436G>A	c.(436-438)GAT>AAT	p.D146N		NM_019069	NP_061942	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	146	WD 3.									ovary(3)	3				GBM - Glioblastoma multiforme(114;0.0704)		ACAGTCTCATCAAAAGATCCC	0.388													T	122133940	C	T	122133940	3	4	2	1	0	0	0	0	1	0	0	0	17306	826	29	4	560	4	WDR5B	3	122133940	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	152764	122133940	75888490	113	1645											
PARP14	54625	broad.mit.edu	37	chr3	122437724	122437724	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaattaatcatcggcacTacacagtgaacttgaacaca	5	10	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:122437724T>C	uc003efq.3	+	14	4785	c.4726T>C	c.(4726-4728)TAC>CAC	p.Y1576H	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.Y1293H|PARP14_uc003efs.1_Missense_Mutation_p.Y1293H	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1576	WWE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		TCATCGGCACTACACAGTGAA	0.378													C	122437724	T	C	122437724	3	2	2	1	0	0	0	0	1	0	0	0	11458	1522	53	3	4780	3	PARP14	3	122437724	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	303784	122437724	75584706	114	1646											
KALRN	8997	broad.mit.edu	37	chr3	124132335	124132335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgacagcagagctagacGcctggaatgaagacttgctt	13	8	0	5			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:124132335G>A	uc003ehg.2	+	14	2486	c.2359G>A	c.(2359-2361)GCC>ACC	p.A787T	KALRN_uc010hrv.1_Missense_Mutation_p.A787T|KALRN_uc003ehf.1_Missense_Mutation_p.A787T|KALRN_uc011bjy.1_Missense_Mutation_p.A787T|KALRN_uc003ehh.1_Missense_Mutation_p.A133T	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	787					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						AGAGCTAGACGCCTGGAATGA	0.537													A	124132335	G	A	124132335	3	1	2	1	0	0	0	0	1	0	0	0	7975	1087	38	1	2413	1	KALRN	3	124132335	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	1694611	124132335	73890095	115	1647											
ZNF148	7707	broad.mit.edu	37	chr3	124952156	124952156	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagataccgcttcttctTcaaaaactgcatggcatcat	6	10	4	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:124952156T>C	uc003ehx.3	-	9	1900	c.1414A>G	c.(1414-1416)AAG>GAG	p.K472E	SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Missense_Mutation_p.K472E|ZNF148_uc010hsa.2_Missense_Mutation_p.K472E|ZNF148_uc003eia.3_Missense_Mutation_p.K472E|ZNF148_uc003ehy.2_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	472					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4						CGCTTCTTCTTCAAAAACTGC	0.443													C	124952156	T	C	124952156	3	2	2	1	0	0	0	0	1	0	0	0	17731	1792	62	3	974	3	ZNF148	3	124952156	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	819821	124952156	73070274	116	1648											
COL6A6	131873	broad.mit.edu	37	chr3	130340692	130340692	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggacccggaggagaggcaGggaatcaaggccgtttggga	18	8	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:130340692G>T	uc010htl.2	+	23	4874	c.4843G>T	c.(4843-4845)GGG>TGG	p.G1615W	COL6A6_uc003eni.3_Translation_Start_Site	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1615	Triple-helical region.				axon guidance|cell adhesion	collagen		p.E1613_G1615del(1)		ovary(6)|central_nervous_system(1)|pancreas(1)	8						AGGAGAGGCAGGGAATCAAGG	0.428													T	130340692	G	T	130340692	3	4	2	1	0	0	0	0	1	0	0	0	3703	1000	35	5	4933	5	COL6A6	3	130340692	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	5388536	130340692	67681738	117	1649											
COL6A6	131873	broad.mit.edu	37	chr3	130380597	130380597	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgggaagtgctgaatttgaaGacataagagccttccttgga	12	6	0	4			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:130380597G>A	uc010htl.2	+	34	5978	c.5947G>A	c.(5947-5949)GAC>AAC	p.D1983N	COL6A6_uc003eni.3_Missense_Mutation_p.D82N	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1983	VWFA 9.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						TGAATTTGAAGACATAAGAGC	0.522													A	130380597	G	A	130380597	3	1	2	1	0	0	0	0	1	0	0	0	3703	942	33	4	6081	4	COL6A6	3	130380597	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	39905	130380597	67641833	118	1650											
NCK1	4690	broad.mit.edu	37	chr3	136664858	136664858	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagatgtaatggatgttatTgaaaaacctgaaaatgaccc	10	5	0	4			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:136664858T>G	uc003erh.2	+	3	767	c.660T>G	c.(658-660)ATT>ATG	p.I220M	NCK1_uc011bme.1_Missense_Mutation_p.I156M	NM_006153	NP_006144	P16333	NCK1_HUMAN	NCK adaptor protein 1	220	SH3 3.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			pancreas(1)	1						TGGATGTTATTGAAAAACCTG	0.388													G	136664858	T	G	136664858	3	3	2	1	0	0	0	0	1	0	0	0	10219	1800	63	5	666	5	NCK1	3	136664858	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	6284261	136664858	61357572	119	1651											
PCOLCE2	26577	broad.mit.edu	37	chr3	142606588	142606588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaataaatccagactctcCagtaagaatgccaccacatg	6	13	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:142606588C>T	uc003evd.2	-	2	311	c.115G>A	c.(115-117)GGA>AGA	p.G39R		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	39	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			ovary(2)|skin(1)	3						CCAGACTCTCCAGTAAGAATG	0.363													T	142606588	C	T	142606588	3	4	2	1	0	0	0	0	1	0	0	0	11595	603	21	4	1164	4	PCOLCE2	3	142606588	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	5941730	142606588	55415842	120	1652											
SIAH2	6478	broad.mit.edu	37	chr3	150460290	150460290	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttaatgtctgtagctagaaAgacgatgtcttctccctgaa	9	8	3	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:150460290A>C	uc003eyi.2	-	2	1240	c.613T>G	c.(613-615)TTT>GTT	p.F205V		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	205	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTAGCTAGAAAGACGATGTCT	0.522													C	150460290	A	C	150460290	3	2	2	1	0	0	0	0	1	0	0	0	14300	72	3	5	365	5	SIAH2	3	150460290	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	7853702	150460290	47562140	121	1653											
P2RY1	5028	broad.mit.edu	37	chr3	152554055	152554055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccctcaagtccctgggcCggctcaaaaagaagaatgcg	10	14	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:152554055C>T	uc003ezq.2	+	1	1320	c.484C>T	c.(484-486)CGG>TGG	p.R162W		NM_002563	NP_002554	P47900	P2RY1_HUMAN	purinergic receptor P2Y1	162	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GTCCCTGGGCCGGCTCAAAAA	0.552													T	152554055	C	T	152554055	3	4	2	1	0	0	0	0	1	0	0	0	11346	643	23	1	486	1	P2RY1	3	152554055	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	2093765	152554055	45468375	122	1654											
C3orf79	152118	broad.mit.edu	37	chr3	153203896	153203896	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcaattttgcaaccaggTaacttcattctggtcaacga	8	10	3	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:153203896T>C	uc003ezt.2	+	2	285	c.223_splice	c.e2+2	p.G75_splice		NM_001101337	NP_001094807	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79												0						tgcaaccaggtaacttcattc	0.08													C	153203896	T	C	153203896	5	2	2	1	0	0	0	0	0	0	1	0	2246	1652	57	3	231	3	C3orf79	3	153203896	Splice_Site	SNP	T	TCGA-B7-5818-01A-11D-1600-08	649841	153203896	44818534	123	1655											
C3orf33	285315	broad.mit.edu	37	chr3	155481395	155481395	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catgttgtctttccatatttCataagtccttttaagttttt	4	7	2	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:155481395C>T	uc003fal.1	-	6	937	c.667G>A	c.(667-669)GAA>AAA	p.E223K	C3orf33_uc003fam.1_Missense_Mutation_p.E266K	NM_173657	NP_775928	Q96NB5	Q96NB5_HUMAN	hypothetical protein LOC285315	223							hydrolase activity, acting on ester bonds|nucleic acid binding				0			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTCCATATTTCATAAGTCCTT	0.323													T	155481395	C	T	155481395	3	4	2	1	0	0	0	0	1	0	0	0	2223	835	29	4	92	4	C3orf33	3	155481395	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	2277499	155481395	42541035	124	1656											
B3GALNT1	8706	broad.mit.edu	37	chr3	160804463	160804463	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatcacaaagaaactcaggAgtgacagcagcaggaggctc	11	10	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:160804463A>G	uc003fdv.2	-	5	499	c.80T>C	c.(79-81)CTC>CCC	p.L27P	B3GALNT1_uc003fdw.2_Missense_Mutation_p.L27P|B3GALNT1_uc003fdx.2_Missense_Mutation_p.L27P|B3GALNT1_uc003fdy.2_Missense_Mutation_p.L27P|B3GALNT1_uc003fdz.2_Missense_Mutation_p.L27P|B3GALNT1_uc003fea.2_Missense_Mutation_p.L27P|B3GALNT1_uc011bpa.1_Missense_Mutation_p.L27P	NM_033169	NP_149359	O75752	B3GL1_HUMAN	UDP-Gal:betaGlcNAc beta	27	Helical; Signal-anchor for type II membrane protein; (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			GAAACTCAGGAGTGACAGCAG	0.512													G	160804463	A	G	160804463	3	3	2	1	0	0	0	0	1	0	0	0	1245	304	11	3	919	3	B3GALNT1	3	160804463	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	5323068	160804463	37217967	125	1657											
ZBBX	79740	broad.mit.edu	37	chr3	167086288	167086288	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcttgtggatcggaatTcttgcagtttcttctccatc	8	9	4	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:167086288T>C	uc003fep.2	-	5	466	c.143A>G	c.(142-144)GAA>GGA	p.E48G	ZBBX_uc011bpc.1_Missense_Mutation_p.E48G|ZBBX_uc003feq.2_Missense_Mutation_p.E19G	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	48	Potential.					intracellular	zinc ion binding			ovary(2)	2						GGATCGGAATTCTTGCAGTTT	0.328													C	167086288	T	C	167086288	3	2	2	1	0	0	0	0	1	0	0	0	17513	1783	62	3	2327	3	ZBBX	3	167086288	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	6281825	167086288	30936142	126	1658											
TNIK	23043	broad.mit.edu	37	chr3	170784001	170784001	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catttctttcacatagaaacTttaacctttgagctcgctta	4	10	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:170784001T>G	uc003fhh.2	-	32	4319	c.3974A>C	c.(3973-3975)AAG>ACG	p.K1325T	TNIK_uc003fhi.2_Missense_Mutation_p.K1270T|TNIK_uc003fhj.2_Missense_Mutation_p.K1296T|TNIK_uc003fhk.2_Missense_Mutation_p.K1317T|TNIK_uc003fhl.2_Missense_Mutation_p.K1241T|TNIK_uc003fhm.2_Missense_Mutation_p.K1262T|TNIK_uc003fhn.2_Missense_Mutation_p.K1288T|TNIK_uc003fho.2_Missense_Mutation_p.K1233T|TNIK_uc003fhg.2_Missense_Mutation_p.K503T	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	1325	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ACATAGAAACTTTAACCTTTG	0.393													G	170784001	T	G	170784001	3	3	2	1	0	0	0	0	1	0	0	0	16310	1609	56	5	116	5	TNIK	3	170784001	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	3697713	170784001	27238429	127	1659											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	8	11	3	4	rs121913273		TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936082	G	A	178936082	3	1	2	1	0	0	0	0	1	0	0	0	11913	1291	45	4	1658	4	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	8152081	178936082	19086348	128	1660											
ZNF639	51193	broad.mit.edu	37	chr3	179051248	179051248	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctctgagagtctccaagacCaaactgatgaagaaccgcca	8	13	2	5			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:179051248C>A	uc003fjq.1	+	6	839	c.496C>A	c.(496-498)CAA>AAA	p.Q166K	ZNF639_uc003fjr.1_Missense_Mutation_p.Q166K	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	zinc finger protein 639	166					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TCTCCAAGACCAAACTGATGA	0.418													A	179051248	C	A	179051248	3	1	2	1	0	0	0	0	1	0	0	0	18053	595	21	5	510	5	ZNF639	3	179051248	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	115166	179051248	18971182	129	1661											
TTC14	151613	broad.mit.edu	37	chr3	180328303	180328303	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatagctgaatttgaaaaAgaaaaaggaaataagtcaaa	8	3	1	4			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:180328303A>C	uc003fkk.2	+	12	2418	c.2286A>C	c.(2284-2286)AAA>AAC	p.K762N	TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Intron	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	762							RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AATTTGAAAAAGAAAAAGGAA	0.299													C	180328303	A	C	180328303	3	2	2	1	0	0	0	0	1	0	0	0	16678	69	3	5	2362	5	TTC14	3	180328303	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	1277055	180328303	17694127	130	1662											
CLCN2	1181	broad.mit.edu	37	chr3	184075422	184075422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctacctccaataggtgccGcgaagcagcagcccaccccc	9	19	0	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:184075422G>A	uc003foi.2	-	7	882	c.758C>T	c.(757-759)GCG>GTG	p.A253V	CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Missense_Mutation_p.A253V|CLCN2_uc011brl.1_Missense_Mutation_p.A253V|CLCN2_uc011brm.1_Missense_Mutation_p.A209V|CLCN2_uc011brn.1_Missense_Mutation_p.A253V	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	253						chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AATAGGTGCCGCGAAGCAGCA	0.642													A	184075422	G	A	184075422	3	1	2	1	0	0	0	0	1	0	0	0	3463	1087	38	1	2010	1	CLCN2	3	184075422	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	3747119	184075422	13947008	131	1663											
EPHB3	2049	broad.mit.edu	37	chr3	184295588	184295588	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccgccctgccgagtttgAgaccacaagtgagagaggtt	13	11	0	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:184295588A>G	uc003foz.2	+	7	2059	c.1622A>G	c.(1621-1623)GAG>GGG	p.E541G		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	541	Fibronectin type-III 2.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCCGAGTTTGAGACCACAAGT	0.642													G	184295588	A	G	184295588	3	3	2	1	0	0	0	0	1	0	0	0	5176	304	11	3	1648	3	EPHB3	3	184295588	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	220166	184295588	13726842	132	1664											
AHSG	197	broad.mit.edu	37	chr3	186338625	186338625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagaagtgtcgcacccccGgaaaacacgcacagtggtgc	13	12	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:186338625G>A	uc003fqk.3	+	7	1091	c.1010G>A	c.(1009-1011)CGG>CAG	p.R337Q	AHSG_uc003fql.3_Missense_Mutation_p.R338Q|AHSG_uc003fqm.3_Missense_Mutation_p.R336Q|AHSG_uc010hyp.2_Missense_Mutation_p.R300Q	NM_001622	NP_001613	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	337					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding				0	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TCGCACCCCCGGAAAACACGC	0.607													A	186338625	G	A	186338625	3	1	2	1	0	0	0	0	1	0	0	0	420	1116	39	1	1036	1	AHSG	3	186338625	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	2043037	186338625	11683805	133	1665											
MUC4	4585	broad.mit.edu	37	chr3	195501076	195501076	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggagagaggagccaaggggGaagccagtcgccggcttgaa	18	9	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:195501076G>A	uc011bto.1	-	5	13120	c.12660C>T	c.(12658-12660)TTC>TTT	p.F4220F	MUC4_uc003fuz.2_Missense_Mutation_p.S28F|MUC4_uc003fva.2_5'UTR|MUC4_uc003fvb.2_5'UTR|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_5'UTR|MUC4_uc011bti.1_5'UTR|MUC4_uc011btj.1_Silent_p.F89F|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_5'UTR|MUC4_uc011btm.1_Silent_p.F89F|MUC4_uc011btn.1_5'UTR|MUC4_uc003fvo.2_Silent_p.F112F|MUC4_uc003fvp.2_Silent_p.F61F|MUC4_uc010hzu.1_Silent_p.F960F	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1105					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGCCAAGGGGGAAGCCAGTCG	0.652													A	195501076	G	A	195501076	2	1	2	1	0	0	0	0	0	0	0	1	9978	1165	41	4		4	MUC4	3	195501076	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	9162451	195501076	2521354	134	1666											
MUC4	4585	broad.mit.edu	37	chr3	195517394	195517394	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatccacttggtgaggataAaacagttgatgttgtaaccg	11	6	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:195517394A>C	uc011bto.1	-	2	1517	c.1057T>G	c.(1057-1059)TTA>GTA	p.L353V	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.L235V	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	358					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGTGAGGATAAAACAGTTGAT	0.473													C	195517394	A	C	195517394	3	2	2	1	0	0	0	0	1	0	0	0	9978	11	1	5		5	MUC4	3	195517394	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	16318	195517394	2505036	135	1667											
WDR53	348793	broad.mit.edu	37	chr3	196281389	196281389	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccatcattccctccagtaAgcagcaaataggattctggg	8	12	2	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:196281389A>C	uc003fwt.2	-	4	1241	c.770T>G	c.(769-771)CTT>CGT	p.L257R		NM_182627	NP_872433	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	257	WD 5.									breast(1)|skin(1)	2	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CCCTCCAGTAAGCAGCAAATA	0.473													C	196281389	A	C	196281389	3	2	2	1	0	0	0	0	1	0	0	0	17302	72	3	5	310	5	WDR53	3	196281389	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	763995	196281389	1741041	136	1668											
ZNF721	170960	broad.mit.edu	37	chr4	435590	435590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacacgtgtagggtttctctCcagtatgaattttcttatgc	8	9	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:435590C>T	uc003gag.2	-	3	3357	c.2666G>A	c.(2665-2667)GGA>GAA	p.G889E	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.G921E|ZNF721_uc010ibe.2_Missense_Mutation_p.G877E	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	889						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						GGGTTTCTCTCCAGTATGAAT	0.388													T	435590	C	T	435590	3	4	2	1	0	0	0	0	1	0	0	0	18119	855	30	4	109	4	ZNF721	4	435590	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08		435590	190718686	137	1669											
PIGG	54872	broad.mit.edu	37	chr4	533039	533039	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacatctctgcgttatcatTtatttatatggagtgtattt	7	5	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:533039T>G	uc003gak.3	+	13	2969	c.2833T>G	c.(2833-2835)TTA>GTA	p.L945V	PIGG_uc003gaj.3_Missense_Mutation_p.L937V|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.L812V|PIGG_uc003gal.3_Missense_Mutation_p.L856V	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	945					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						GCGTTATCATTTATTTATATG	0.423													G	533039	T	G	533039	3	3	2	1	0	0	0	0	1	0	0	0	11888	1838	64	5	2883	5	PIGG	4	533039	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	97449	533039	190621237	138	1670											
HAUS3	79441	broad.mit.edu	37	chr4	2240726	2240726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagtttcataatctcactGgtcaagctagaaattttagc	6	8	4	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:2240726G>A	uc003ges.1	-	3	1184	c.954C>T	c.(952-954)ACC>ACT	p.T318T	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Silent_p.T318T|HAUS3_uc003get.1_Silent_p.T318T	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	318	Potential.				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				large_intestine(2)|breast(2)	4						TAATCTCACTGGTCAAGCTAG	0.348													A	2240726	G	A	2240726	2	1	2	1	0	0	0	0	0	0	0	1	6967	1335	47	4		4	HAUS3	4	2240726	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	1707687	2240726	188913550	139	1671											
SLC2A9	56606	broad.mit.edu	37	chr4	9909888	9909888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagccaaagtctcgatgcCccctgtactcaaggtgacgt	11	13	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:9909888C>T	uc003gmc.2	-	8	1145	c.1084G>A	c.(1084-1086)GGC>AGC	p.G362S	SLC2A9_uc003gmd.2_Missense_Mutation_p.G333S	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	solute carrier family 2, member 9 protein	362	Helical; Name=8; (Potential).				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			ovary(3)	3						GTCTCGATGCCCCCTGTACTC	0.483													T	9909888	C	T	9909888	3	4	2	1	0	0	0	0	1	0	0	0	14552	623	22	4	558	4	SLC2A9	4	9909888	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	7669162	9909888	181244388	140	1672											
PPARGC1A	10891	broad.mit.edu	37	chr4	23815666	23815666	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgtccctcagttcaccggtCttgtctgcttcgtcgtcaaa	8	14	5	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:23815666C>T	uc003gqs.2	-	8	1560	c.1440G>A	c.(1438-1440)AAG>AAA	p.K480K	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	480					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				GTTCACCGGTCTTGTCTGCTT	0.463													T	23815666	C	T	23815666	2	4	2	1	0	0	0	0	0	0	0	1	12300	912	32	4		4	PPARGC1A	4	23815666	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	13905778	23815666	167338610	141	1673											
RBM47	54502	broad.mit.edu	37	chr4	40440536	40440537	+	Frame_Shift_Ins	INS	-	-	T													tgagctcacgcactgcgcgcINSttggcctcgtgcttgtggca							TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:40440536_40440537insT	uc003gvc.2	-	4	1084_1085	c.374_375insA	c.(373-375)AAGfs	p.K125fs	RBM47_uc003gvd.2_Frame_Shift_Ins_p.K125fs|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Frame_Shift_Ins_p.K87fs|RBM47_uc003gvg.1_Frame_Shift_Ins_p.K125fs	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	125	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(3)	3						GCACTGCGCGCTTGGCCTCGTG	0.649													T	40440537	-	T	40440536	7	5	2	1	0	1	1	0	0	0	0	0	13141	796	28	0	1422	0	RBM47	4	40440536	Frame_Shift_Ins	INS	-	TCGA-B7-5818-01A-11D-1600-08	16624870	40440536	150713740	142	1674	4	2									
RBM47	54502	broad.mit.edu	37	chr4	40440537	40440538	+	Frame_Shift_Ins	INS	-	-	T													gagctcacgcactgcgcgctINStggcctcgtgcttgtggcag							TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:40440536_40440537C>CT	uc003gvc.2	-	3	1084_1085	c.374_375G>AG	c.(373-375)aagfs	p.K125fs	RBM47_uc003gvd.2_Frame_Shift_Ins_p.K125fs|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Frame_Shift_Ins_p.K87fs|RBM47_uc003gvg.1_Frame_Shift_Ins_p.K125fs	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	125	RRM 1.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GCACTGCGCGCTTGGCCTCGTG	0.649													T	40440538	-	T	40440537	7	5	2	1	0	1	1	0	0	0	0	0	13141	1609	56	0	1423	0	RBM47	4	40440537	Frame_Shift_Ins	INS	-	TCGA-B7-5818-01A-11D-1600-08	1	40440537	150713739	143	1675	4	2									
CLOCK	9575	broad.mit.edu	37	chr4	56310904	56310904	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgcgtgtccgttgttccaAttggtctttcagatgttgca	10	9	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:56310904A>C	uc003haz.1	-	20	2514	c.1588T>G	c.(1588-1590)TTG>GTG	p.L530V	CLOCK_uc003hba.1_Missense_Mutation_p.L530V|CLOCK_uc010igu.1_RNA	NM_004898	NP_004889	O15516	CLOCK_HUMAN	clock	530	Implicated in the circadian rhythmicity (By similarity).				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CGTTGTTCCAATTGGTCTTTC	0.383													C	56310904	A	C	56310904	3	2	2	1	0	0	0	0	1	0	0	0	3549	98	4	5	972	5	CLOCK	4	56310904	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	15870367	56310904	134843372	144	1676											
CLOCK	9575	broad.mit.edu	37	chr4	56319950	56319950	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgttgccccttagtcaGgaacctataataacatgatt	6	11	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:56319950G>A	uc003haz.1	-	15	1950	c.1024C>T	c.(1024-1026)CTG>TTG	p.L342L	CLOCK_uc003hba.1_Silent_p.L342L	NM_004898	NP_004889	O15516	CLOCK_HUMAN	clock	342	PAC.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CCCTTAGTCAGGAACCTATAA	0.313													A	56319950	G	A	56319950	2	1	2	1	0	0	0	0	0	0	0	1	3549	991	35	4		4	CLOCK	4	56319950	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	9046	56319950	134834326	145	1677											
EPHA5	2044	broad.mit.edu	37	chr4	66467875	66467875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgcagtcccgcagggtaaAtttgagttctatgaagattc	11	7	1	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:66467875A>G	uc003hcy.2	-	3	587	c.394T>C	c.(394-396)TTT>CTT	p.F132L	EPHA5_uc003hcx.2_Missense_Mutation_p.F63L|EPHA5_uc003hcz.2_Missense_Mutation_p.F132L|EPHA5_uc011cah.1_Missense_Mutation_p.F132L|EPHA5_uc011cai.1_Missense_Mutation_p.F132L|EPHA5_uc003hda.2_Missense_Mutation_p.F132L	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	132	Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						CGCAGGGTAAATTTGAGTTCT	0.423										TSP Lung(17;0.13)			G	66467875	A	G	66467875	3	3	2	1	0	0	0	0	1	0	0	0	5170	101	4	3	2783	3	EPHA5	4	66467875	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	10147925	66467875	124686401	146	1678											
RUFY3	22902	broad.mit.edu	37	chr4	71640928	71640928	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggaccagaagaactatgtaGaagaactgaacagacatttg	10	6	0	6			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:71640928G>A	uc003hfq.2	+	7	1397	c.802G>A	c.(802-804)GAA>AAA	p.E268K	RUFY3_uc003hfp.3_Missense_Mutation_p.E328K|RUFY3_uc011cax.1_Missense_Mutation_p.E286K|RUFY3_uc003hfr.2_Missense_Mutation_p.E268K|RUFY3_uc011cay.1_Missense_Mutation_p.E204K	NM_014961	NP_055776	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3 isoform 2	268	Potential.				negative regulation of axonogenesis	filopodium|growth cone					0		all_hematologic(202;0.248)	Lung(101;0.235)			GAACTATGTAGAAGAACTGAA	0.358													A	71640928	G	A	71640928	3	1	2	1	0	0	0	0	1	0	0	0	13740	943	33	4	1190	4	RUFY3	4	71640928	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	5173053	71640928	119513348	147	1679											
HERC3	8916	broad.mit.edu	37	chr4	89588548	89588548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgatgaacattttaaaaCgagtcccaaaatccctggga	7	8	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:89588548C>T	uc003hrw.1	+	13	1518	c.1352C>T	c.(1351-1353)ACG>ATG	p.T451M	HERC3_uc011cdn.1_Missense_Mutation_p.T333M|HERC3_uc011cdo.1_Translation_Start_Site	NM_014606	NP_055421	Q15034	HERC3_HUMAN	hect domain and RLD 3	451					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			lung(2)|prostate(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CATTTTAAAACGAGTCCCAAA	0.318													T	89588548	C	T	89588548	3	4	2	1	0	0	0	0	1	0	0	0	7059	536	19	1	1394	1	HERC3	4	89588548	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	17947620	89588548	101565728	148	1680											
NHEDC2	133308	broad.mit.edu	37	chr4	103988638	103988638	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcttcttgatgcatggAgggcgtgtaattcattcctg	12	8	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:103988638A>C	uc003hwx.3	-	2	942	c.70T>G	c.(70-72)TCC>GCC	p.S24A	NHEDC2_uc003hwy.2_Missense_Mutation_p.S24A|NHEDC2_uc011cew.1_Missense_Mutation_p.S24A|NHEDC2_uc011cex.1_Missense_Mutation_p.S24A|NHEDC2_uc011cey.1_Missense_Mutation_p.S24A	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN	Na+/H+ exchanger domain containing 2	24					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity				0				OV - Ovarian serous cystadenocarcinoma(123;2.3e-08)		TGATGCATGGAGGGCGTGTAA	0.363													C	103988638	A	C	103988638	3	2	2	1	0	0	0	0	1	0	0	0	10401	304	11	5	1587	5	NHEDC2	4	103988638	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	14400090	103988638	87165638	149	1681											
NDST4	64579	broad.mit.edu	37	chr4	115767007	115767007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagtatgccctgtctgagGggtcaatgaggatggtgatg	16	5	2	4			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:115767007G>A	uc003ibu.2	-	10	2766	c.2087C>T	c.(2086-2088)CCC>CTC	p.P696L	NDST4_uc010imw.2_RNA	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	696	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCTGTCTGAGGGGTCAATGAG	0.428													A	115767007	G	A	115767007	3	1	2	1	0	0	0	0	1	0	0	0	10258	1232	43	4	551	4	NDST4	4	115767007	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	11778369	115767007	75387269	150	1682											
BBS7	55212	broad.mit.edu	37	chr4	122754405	122754405	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtaggtactttcaagttGtgtatctagaaaggtgttct	10	6	3	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:122754405G>A	uc003ied.2	-	15	1831	c.1657C>T	c.(1657-1659)CAA>TAA	p.Q553*	BBS7_uc003iee.1_Nonsense_Mutation_p.Q553*	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	553					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1						CTTTCAAGTTGTGTATCTAGA	0.358									Bardet-Biedl_syndrome				A	122754405	G	A	122754405	4	1	2	1	0	0	0	0	0	1	0	0	1341	1386	48	4	515	4	BBS7	4	122754405	Nonsense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	6987398	122754405	68399871	151	1683											
SLC25A31	83447	broad.mit.edu	37	chr4	128694699	128694699	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatatgataaaattaaagaAttctttcatattgatattgg	5	2	2	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:128694699A>C	uc003ifl.2	+	6	1064	c.918A>C	c.(916-918)GAA>GAC	p.E306D		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier;	306	Solcar 3.				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity				0						AAATTAAAGAATTCTTTCATA	0.358													C	128694699	A	C	128694699	3	2	2	1	0	0	0	0	1	0	0	0	14495	98	4	5	940	5	SLC25A31	4	128694699	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	5940294	128694699	62459577	152	1684											
GUCY1A3	2982	broad.mit.edu	37	chr4	156634545	156634545	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgctccatatttccctgtgAggttgctcagcagctgtggc	12	11	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:156634545A>C	uc003iov.2	+	8	1918	c.1382A>C	c.(1381-1383)GAG>GCG	p.E461A	GUCY1A3_uc010iqc.2_Missense_Mutation_p.E461A|GUCY1A3_uc003iow.2_Missense_Mutation_p.E461A|GUCY1A3_uc010iqd.2_Missense_Mutation_p.E460A|GUCY1A3_uc003iox.2_Missense_Mutation_p.E461A|GUCY1A3_uc003ioz.2_Missense_Mutation_p.E226A|GUCY1A3_uc003ioy.2_Missense_Mutation_p.E461A|GUCY1A3_uc010iqe.2_Missense_Mutation_p.E226A|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.E461A	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	461					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTTCCCTGTGAGGTTGCTCAG	0.527													C	156634545	A	C	156634545	3	2	2	1	0	0	0	0	1	0	0	0	6894	304	11	5	1415	5	GUCY1A3	4	156634545	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	27939846	156634545	34519731	153	1685											
FAT1	2195	broad.mit.edu	37	chr4	187629762	187629762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaaactgaatttagcttttCcaggtgtacttttaaaaaca	5	6	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:187629762C>T	uc003izf.2	-	2	1408	c.1220G>A	c.(1219-1221)GGA>GAA	p.G407E	FAT1_uc010iso.1_Missense_Mutation_p.G407E	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	407	Extracellular (Potential).|Cadherin 3.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TTTAGCTTTTCCAGGTGTACT	0.378										HNSCC(5;0.00058)			T	187629762	C	T	187629762	3	4	2	1	0	0	0	0	1	0	0	0	5689	855	30	4	12650	4	FAT1	4	187629762	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	30995217	187629762	3524514	154	1686											
CTNND2	1501	broad.mit.edu	37	chr5	11732288	11732288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatggcagaggtggtttctGtttcagagccatccccgttg	14	9	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:11732288G>A	uc003jfa.1	-	2	279	c.134C>T	c.(133-135)ACA>ATA	p.T45I	CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	45					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						GGTGGTTTCTGTTTCAGAGCC	0.483													A	11732288	G	A	11732288	3	1	2	1	0	0	0	0	1	0	0	0	4020	1377	48	4	3627	4	CTNND2	5	11732288	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08		11732288	169182972	155	1687											
DNAH5	1767	broad.mit.edu	37	chr5	13864542	13864542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttcagaagaggtgcctcCatgatatttcttaacttaaa	6	7	2	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:13864542C>T	uc003jfd.2	-	28	4602	c.4560G>A	c.(4558-4560)ATG>ATA	p.M1520I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1520	Stem (By similarity).				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)					GAGGTGCCTCCATGATATTTC	0.418									Kartagener_syndrome				T	13864542	C	T	13864542	3	4	2	1	0	0	0	0	1	0	0	0	4604	594	21	4	9522	4	DNAH5	5	13864542	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	2132254	13864542	167050718	156	1688											
FAM105A	54491	broad.mit.edu	37	chr5	14601526	14601526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagaatggaaaggagagaCaccccgtaacaagctgatga	12	7	0	4			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:14601526C>T	uc003jfj.2	+	4	436	c.323C>T	c.(322-324)ACA>ATA	p.T108I		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	hypothetical protein LOC54491	108										ovary(1)	1	Lung NSC(4;0.00592)					AAAGGAGAGACACCCCGTAAC	0.413													T	14601526	C	T	14601526	3	4	2	1	0	0	0	0	1	0	0	0	5387	478	17	4	337	4	FAM105A	5	14601526	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	736984	14601526	166313734	157	1689											
RXFP3	51289	broad.mit.edu	37	chr5	33937024	33937024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggagttgccggacggcgCgccgccaggacatcccccgg	16	16	0	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:33937024C>T	uc003jic.1	+	1	536	c.179C>T	c.(178-180)GCG>GTG	p.A60V		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	60	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						CCGGACGGCGCGCCGCCAGGA	0.701													T	33937024	C	T	33937024	3	4	2	1	0	0	0	0	1	0	0	0	13761	768	27	1	181	1	RXFP3	5	33937024	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	19335498	33937024	146978236	158	1690											
PRLR	5618	broad.mit.edu	37	chr5	35068965	35068965	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagatccacacggttgtaTcattcatggtgaagtctaaa	9	8	3	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:35068965T>C	uc003jjm.2	-	8	1231	c.701A>G	c.(700-702)GAT>GGT	p.D234G	PRLR_uc003jjg.1_Missense_Mutation_p.D234G|PRLR_uc003jjh.1_Missense_Mutation_p.D234G|PRLR_uc003jji.1_Missense_Mutation_p.D163G|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Missense_Mutation_p.D133G|PRLR_uc010iuw.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	prolactin receptor precursor	234	Extracellular (Potential).				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			ovary(2)|skin(1)	3	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CACGGTTGTATCATTCATGGT	0.408													C	35068965	T	C	35068965	3	2	2	1	0	0	0	0	1	0	0	0	12531	1435	50	3	1179	3	PRLR	5	35068965	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	1131941	35068965	145846295	159	1691											
ADAMTS6	11174	broad.mit.edu	37	chr5	64511238	64511238	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaatgaaaagctgtcccAgcaacatcaaatttcctagg	7	9	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:64511238A>G	uc003jtp.2	-	19	3163	c.2349T>C	c.(2347-2349)GCT>GCC	p.A783A	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Silent_p.A404A	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	783	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AAGCTGTCCCAGCAACATCAA	0.398													G	64511238	A	G	64511238	2	3	2	1	0	0	0	0	0	0	0	1	270	175	7	3		3	ADAMTS6	5	64511238	Silent	SNP	A	TCGA-B7-5818-01A-11D-1600-08	29442273	64511238	116404022	160	1692											
BDP1	55814	broad.mit.edu	37	chr5	70805419	70805419	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcctcaaaggaagaggtaCtagagaagattcttgtctct	9	7	3	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:70805419C>A	uc003kbp.1	+	17	2763	c.2500C>A	c.(2500-2502)CTA>ATA	p.L834I	BDP1_uc003kbn.1_Missense_Mutation_p.L834I|BDP1_uc003kbo.2_Missense_Mutation_p.L834I	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	834	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.|1; approximate.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GGAAGAGGTACTAGAGAAGAT	0.428													A	70805419	C	A	70805419	3	1	2	1	0	0	0	0	1	0	0	0	1395	564	20	5	2566	5	BDP1	5	70805419	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	6294181	70805419	110109841	161	1693											
HEXB	3074	broad.mit.edu	37	chr5	74001088	74001088	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatgttcttcactggcacatAgttgatgaccagtctttccc	7	11	3	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:74001088A>T	uc003kdf.3	+	6	831	c.714A>T	c.(712-714)ATA>ATT	p.I238I	HEXB_uc003kdd.2_Silent_p.I13I|HEXB_uc003kde.2_Silent_p.I238I|HEXB_uc010izh.2_RNA	NM_000521	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B preproprotein	238					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		ACTGGCACATAGTTGATGACC	0.328													T	74001088	A	T	74001088	2	4	2	1	0	0	0	0	0	0	0	1	7074	410	15	5		5	HEXB	5	74001088	Silent	SNP	A	TCGA-B7-5818-01A-11D-1600-08	3195669	74001088	106914172	162	1694											
DMGDH	29958	broad.mit.edu	37	chr5	78324391	78324391	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttcttgcctgtggcccagCaactccaagaactccaagct	7	15	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:78324391C>A	uc003kfs.2	-	12	1903	c.1897G>T	c.(1897-1899)GCT>TCT	p.A633S	DMGDH_uc011cte.1_Missense_Mutation_p.A483S|DMGDH_uc011ctf.1_Missense_Mutation_p.A432S|DMGDH_uc011ctg.1_Missense_Mutation_p.A253S	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	633					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TGTGGCCCAGCAACTCCAAGA	0.393													A	78324391	C	A	78324391	3	1	2	1	0	0	0	0	1	0	0	0	4581	710	25	5	723	5	DMGDH	5	78324391	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	4323303	78324391	102590869	163	1695											
GPR98	84059	broad.mit.edu	37	chr5	90124912	90124912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtgggttctcggctggCagtggctcacaagaaggcca	14	10	3	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:90124912C>T	uc003kju.2	+	77	16616	c.16520C>T	c.(16519-16521)GCA>GTA	p.A5507V	GPR98_uc003kjt.2_Missense_Mutation_p.A3213V|GPR98_uc003kjw.2_Missense_Mutation_p.A1168V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5507	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTCGGCTGGCAGTGGCTCAC	0.448													T	90124912	C	T	90124912	3	4	2	1	0	0	0	0	1	0	0	0	6721	710	25	2	16826	2	GPR98	5	90124912	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	11800521	90124912	90790348	164	1696											
SLCO4C1	353189	broad.mit.edu	37	chr5	101593661	101593661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttacctccaagagtagctGcgaagctggatgtcaatccg	10	10	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:101593661G>A	uc003knm.2	-	7	1546	c.1259C>T	c.(1258-1260)GCA>GTA	p.A420V		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	420	Helical; Name=8; (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AAGAGTAGCTGCGAAGCTGGA	0.299													A	101593661	G	A	101593661	3	1	2	1	0	0	0	0	1	0	0	0	14730	1319	46	2	943	2	SLCO4C1	5	101593661	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	11468749	101593661	79321599	165	1697											
YTHDC2	64848	broad.mit.edu	37	chr5	112917175	112917175	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttatttttacgccgaatgaGagctccatctaaaccttggt	7	10	1	1	rs116542037	by1000genomes	TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:112917175G>A	uc003kqn.2	+	25	3599	c.3416G>A	c.(3415-3417)AGA>AAA	p.R1139K		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1139							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CGCCGAATGAGAGCTCCATCT	0.393													A	112917175	G	A	112917175	3	1	2	1	0	0	0	0	1	0	0	0	17494	942	33	4	3514	4	YTHDC2	5	112917175	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	11323514	112917175	67998085	166	1698											
DDX46	9879	broad.mit.edu	37	chr5	134099702	134099707	+	In_Frame_Del	DEL	TAGAGA	TAGAGA	-													gatgacagacggtctagaagTagagatagagataggaggag							TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:134099701_134099706GTAGAGA>G	uc003kzw.3	+	1	293_298	c.125_130GTAGAGA>G	c.(124-132)agtagagat>aGat	p.42_44SRD>R	DDX46_uc003kzv.1_Non-coding_Transcript	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA.	42	Arg-rich.				RNA splicing|mRNA processing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGTCTAGAAGTAGAGATAGAGATAG	0.481													-	134099707	TAGAGA	-	134099702	7	5	2	1	0	1	0	1	0	0	0	0	4364	1635	57	0	132	0	DDX46	5	134099702	In_Frame_Del	DEL	TAGAGA	TCGA-B7-5818-01A-11D-1600-08	21182527	134099702	46815558	167	1699											
PCDHA1	56147	broad.mit.edu	37	chr5	140167731	140167731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggcagcaggcggcgcgcGcatcccgttccgcgtggggc	18	16	0	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:140167731G>A	uc003lhb.2	+	1	1856	c.1856G>A	c.(1855-1857)CGC>CAC	p.R619H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.R619H	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	619	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGCGCGCGCATCCCGTTC	0.667													A	140167731	G	A	140167731	3	1	2	1	0	0	0	0	1	0	0	0	11519	1087	38	1	1858	1	PCDHA1	5	140167731	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	6068029	140167731	40747529	168	1700											
PCDHB7	56129	broad.mit.edu	37	chr5	140553975	140553975	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttgccctcaggtccctggActacgaggccctgcaggcgt	13	14	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:140553975A>G	uc003lit.2	+	1	1733	c.1559A>G	c.(1558-1560)GAC>GGC	p.D520G		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	520	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTCCCTGGACTACGAGGCC	0.701													G	140553975	A	G	140553975	3	3	2	1	0	0	0	0	1	0	0	0	11547	275	10	3	1561	3	PCDHB7	5	140553975	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	386244	140553975	40361285	169	1701											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720519	140720519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccgccactgtcacgctcAccgtggccgtggccgacagg	12	17	3	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:140720519A>G	uc003ljk.1	+	1	2166	c.1981A>G	c.(1981-1983)ACC>GCC	p.T661A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.T661A	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	661	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCACGCTCACCGTGGCCGT	0.682													G	140720519	A	G	140720519	3	3	2	1	0	0	0	0	1	0	0	0	11554	159	6	3	1983	3	PCDHGA2	5	140720519	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	166544	140720519	40194741	170	1702											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720559	140720559	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatccccgacatcctggccgAcctgggcagcctcgagccct	11	18	0	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:140720559A>G	uc003ljk.1	+	1	2206	c.2021A>G	c.(2020-2022)GAC>GGC	p.D674G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.D674G	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	674	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCTGGCCGACCTGGGCAGC	0.687													G	140720559	A	G	140720559	3	3	2	1	0	0	0	0	1	0	0	0	11554	275	10	3	2023	3	PCDHGA2	5	140720559	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	40	140720559	40194701	171	1703											
PCDHGA3	56112	broad.mit.edu	37	chr5	140724034	140724034	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaataaaaattggtgaacTaacggttcctggaacccgat	10	7	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:140724034T>C	uc003ljm.1	+	1	434	c.434T>C	c.(433-435)CTA>CCA	p.L145P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.L145P	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	145	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGGTGAACTAACGGTTCCT	0.348													C	140724034	T	C	140724034	3	2	2	1	0	0	0	0	1	0	0	0	11555	1522	53	3	436	3	PCDHGA3	5	140724034	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	3475	140724034	40191226	172	1704											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751700	140751700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcttcgatatggtgccgcGctctgcagagcctggctacc	12	14	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:140751700G>A	uc003ljw.1	+	1	1739	c.1739G>A	c.(1738-1740)CGC>CAC	p.R580H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.R580H|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	580	Extracellular (Potential).|Cadherin 6.				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)			ATGGTGCCGCGCTCTGCAGAG	0.642													A	140751700	G	A	140751700	3	1	2	1	0	0	0	0	1	0	0	0	11564	1087	38	1	1741	1	PCDHGB3	5	140751700	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	27666	140751700	40163560	173	1705											
FAT2	2196	broad.mit.edu	37	chr5	150901495	150901495	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtctcggtctgtggcatgGatcttacccaccatgccacc	11	14	3	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:150901495G>A	uc003lue.3	-	18	10672	c.10659C>T	c.(10657-10659)ATC>ATT	p.I3553I	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Silent_p.I246I	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3553	Cadherin 32.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTGGCATGGATCTTACCCA	0.572													A	150901495	G	A	150901495	2	1	2	1	0	0	0	0	0	0	0	1	5690	1164	41	4		4	FAT2	5	150901495	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	10149795	150901495	30013765	174	1706											
OR2Y1	134083	broad.mit.edu	37	chr5	180166564	180166564	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatggccacagagaggcatGgccattgcgagacctgtctg	14	11	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:180166564G>A	uc003mmf.1	-	1	495	c.495C>T	c.(493-495)GCC>GCT	p.A165A		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y,	165	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGAGGCATGGCCATTGCGA	0.547													A	180166564	G	A	180166564	2	1	2	1	0	0	0	0	0	0	0	1	11035	1335	47	4		4	OR2Y1	5	180166564	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	29265069	180166564	748696	175	1707											
GNB2L1	10399	broad.mit.edu	37	chr5	180665127	180665127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgctggggcctgtggcaGcacacagccagtagcggtta	15	10	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:180665127G>A	uc003mni.1	-	6	855	c.749C>T	c.(748-750)GCT>GTT	p.A250V	GNB2L1_uc003mnh.1_Missense_Mutation_p.A209V|GNB2L1_uc003mnk.1_Missense_Mutation_p.A172V|GNB2L1_uc003mnj.1_Missense_Mutation_p.A204V|GNB2L1_uc003mnl.1_Missense_Mutation_p.A34V	NM_006098	NP_006089	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein),	250	WD 6.				apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding				0	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		GCCTGTGGCAGCACACAGCCA	0.512													A	180665127	G	A	180665127	3	1	2	1	0	0	0	0	1	0	0	0	6518	971	34	2	216	2	GNB2L1	5	180665127	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	498563	180665127	250133	176	1708											
FOXC1	2296	broad.mit.edu	37	chr6	1611204	1611204	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggcggcggcgcttcaAgaagaaggacgcggtgaagg	20	9	1	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:1611204A>C	uc003mtp.2	+	1	524	c.524A>C	c.(523-525)AAG>ACG	p.K175T		NM_001453	NP_001444	Q12948	FOXC1_HUMAN	forkhead box C1	175					anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CGGCGCTTCAAGAAGAAGGAC	0.493													C	1611204	A	C	1611204	3	2	2	1	0	0	0	0	1	0	0	0	5994	72	3	5	526	5	FOXC1	6	1611204	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08		1611204	169503863	177	1709											
F13A1	2162	broad.mit.edu	37	chr6	6174920	6174920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataagctgtgatggtgtaaCggttgtggctgttgttccgg	16	5	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:6174920C>T	uc003mwv.2	-	12	1763	c.1640G>A	c.(1639-1641)CGT>CAT	p.R547H	F13A1_uc011dib.1_Missense_Mutation_p.R484H	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	547					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GATGGTGTAACGGTTGTGGCT	0.507													T	6174920	C	T	6174920	3	4	2	1	0	0	0	0	1	0	0	0	5340	536	19	1	574	1	F13A1	6	6174920	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	4563716	6174920	164940147	178	1710											
SYCP2L	221711	broad.mit.edu	37	chr6	10907896	10907896	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagctttcaaagaaatTaaggatcgagaatttgagac	10	5	1	4			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:10907896T>G	uc003mzo.2	+	10	1094	c.798T>G	c.(796-798)ATT>ATG	p.I266M	SYCP2L_uc011din.1_Missense_Mutation_p.I107M|SYCP2L_uc010jow.2_Translation_Start_Site	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	266						nucleus				ovary(1)|skin(1)	2	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TCAAAGAAATTAAGGATCGAG	0.393													G	10907896	T	G	10907896	3	3	2	1	0	0	0	0	1	0	0	0	15430	1742	61	5	836	5	SYCP2L	6	10907896	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	4732976	10907896	160207171	179	1711											
HIST1H4H	8365	broad.mit.edu	37	chr6	26285499	26285499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcacggtcttgcgtttggCgtgctctgtgtaagtgacag	14	8	3	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:26285499C>T	uc003nhm.2	-	1	229	c.229G>A	c.(229-231)GCC>ACC	p.A77T	HIST1H4H_uc003nhl.1_RNA	NM_003543	NP_003534	P62805	H4_HUMAN	histone cluster 1, H4h	77				A -> P (in Ref. 11; CAG46986).	CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2						TTGCGTTTGGCGTGCTCTGTG	0.537										HNSCC(76;0.23)			T	26285499	C	T	26285499	3	4	2	1	0	0	0	0	1	0	0	0	7172	768	27	1	86	1	HIST1H4H	6	26285499	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	15377603	26285499	144829568	180	1712											
PGBD1	84547	broad.mit.edu	37	chr6	28269472	28269472	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatgaacttcgctgatgttcTtttagagagaggtcagtatc	11	6	2	4			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:28269472T>A	uc003nky.2	+	7	2211	c.1841T>A	c.(1840-1842)CTT>CAT	p.L614H	PGBD1_uc003nkz.2_Missense_Mutation_p.L614H	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	614					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						GCTGATGTTCTTTTAGAGAGA	0.413													A	28269472	T	A	28269472	3	1	2	1	0	0	0	0	1	0	0	0	11780	1609	56	5	1863	5	PGBD1	6	28269472	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	1983973	28269472	142845595	181	1713											
MDC1	9656	broad.mit.edu	37	chr6	30671627	30671627	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgaattggtgtctcaagaAgctggggagaggcaggctca	15	7	2	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:30671627A>C	uc003nrg.3	-	10	5773	c.5333T>G	c.(5332-5334)CTT>CGT	p.L1778R	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.L1385R	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1778	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						TGTCTCAAGAAGCTGGGGAGA	0.557								Other_conserved_DNA_damage_response_genes					C	30671627	A	C	30671627	3	2	2	1	0	0	0	0	1	0	0	0	9403	72	3	5	960	5	MDC1	6	30671627	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	2402155	30671627	140443440	182	1714											
C6orf10	10665	broad.mit.edu	37	chr6	32261435	32261435	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacacctgactcactcttctTtacttgggactcctgtcctc	6	15	3	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:32261435T>G	uc011dpy.1	-	12	1188	c.1015A>C	c.(1015-1017)AAG>CAG	p.K339Q	C6orf10_uc011dpx.1_Missense_Mutation_p.K121Q	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	339						integral to membrane				skin(1)	1						TCACTCTTCTTTACTTGGGAC	0.458													G	32261435	T	G	32261435	3	3	2	1	0	0	0	0	1	0	0	0	2317	1850	64	5	680	5	C6orf10	6	32261435	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	1589808	32261435	138853632	183	1715											
HLA-DOA	3111	broad.mit.edu	37	chr6	32974922	32974922	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacgaggaagcccaccagGccgatggccaggcccagggc	14	17	0	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:32974922G>A	uc003ocr.2	-	4	760	c.684C>T	c.(682-684)GGC>GGT	p.G228G	HLA-DOA_uc010juj.2_Intron|HLA-DOA_uc010jui.2_3'UTR	NM_002119	NP_002110	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO	228	Helical; (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0						AGCCCACCAGGCCGATGGCCA	0.627													A	32974922	G	A	32974922	2	1	2	1	0	0	0	0	0	0	0	1	7200	1190	42	2		2	HLA-DOA	6	32974922	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	713487	32974922	138140145	184	1716											
MDGA1	266727	broad.mit.edu	37	chr6	37626122	37626122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtgcaatacgctcgatgCgcagcgtctcgttgaacacc	11	13	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:37626122C>T	uc003onu.1	-	3	1460	c.281G>A	c.(280-282)CGC>CAC	p.R94H		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	94	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						ACGCTCGATGCGCAGCGTCTC	0.657													T	37626122	C	T	37626122	3	4	2	1	0	0	0	0	1	0	0	0	9406	768	27	1	2646	1	MDGA1	6	37626122	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	4651200	37626122	133488945	185	1717											
DNAH8	1769	broad.mit.edu	37	chr6	38877485	38877485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaatgggcctgtttcatgaCatggtttcagagagctgtga	12	7	2	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:38877485C>T	uc003ooe.1	+	63	9654	c.9054C>T	c.(9052-9054)GAC>GAT	p.D3018D	uc003oof.1_Intron	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TGTTTCATGACATGGTTTCAG	0.398													T	38877485	C	T	38877485	2	4	2	1	0	0	0	0	0	0	0	1	4607	477	17	4		4	DNAH8	6	38877485	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	1251363	38877485	132237582	186	1718											
DNAH8	1769	broad.mit.edu	37	chr6	38906676	38906676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggcctatacgaaaaccaCaaattcctgtttgtactcct	6	11	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:38906676C>T	uc003ooe.1	+	77	11868	c.11268C>T	c.(11266-11268)CAC>CAT	p.H3756H	DNAH8_uc003oog.1_Silent_p.H205H|uc003oof.1_Intron	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						ACGAAAACCACAAATTCCTGT	0.383													T	38906676	C	T	38906676	2	4	2	1	0	0	0	0	0	0	0	1	4607	477	17	4		4	DNAH8	6	38906676	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	29191	38906676	132208391	187	1719											
SPATS1	221409	broad.mit.edu	37	chr6	44320470	44320470	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtgttacaggtgctaaTtgcagtgattttctggaatc	10	7	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:44320470T>G	uc003oxk.2	+	2	494	c.147T>G	c.(145-147)AAT>AAG	p.N49K	SPATS1_uc003oxg.2_RNA|SPATS1_uc010jzb.2_Intron	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	49										skin(1)	1	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGGTGCTAATTGCAGTGATT	0.348													G	44320470	T	G	44320470	3	3	2	1	0	0	0	0	1	0	0	0	15017	1490	52	5	153	5	SPATS1	6	44320470	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	5413794	44320470	126794597	188	1720											
TDRD6	221400	broad.mit.edu	37	chr6	46656373	46656373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggaggtgcacgggtgcGtcctggacgtgctgctgctc	17	11	0	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:46656373G>A	uc003oyj.2	+	1	508	c.508G>A	c.(508-510)GTC>ATC	p.V170I	TDRD6_uc010jze.2_Missense_Mutation_p.V164I	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	170					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			GCACGGGTGCGTCCTGGACGT	0.701													A	46656373	G	A	46656373	3	1	2	1	0	0	0	0	1	0	0	0	15731	1145	40	1	510	1	TDRD6	6	46656373	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	2335903	46656373	124458694	189	1721											
TDRD6	221400	broad.mit.edu	37	chr6	46658380	46658380	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggtccagagcacttattAgtgggatacagtctgtggag	14	6	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:46658380A>G	uc003oyj.2	+	1	2515	c.2515A>G	c.(2515-2517)AGT>GGT	p.S839G	TDRD6_uc010jze.2_Missense_Mutation_p.S833G	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	839	Tudor 4.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			AGCACTTATTAGTGGGATACA	0.388													G	46658380	A	G	46658380	3	3	2	1	0	0	0	0	1	0	0	0	15731	420	15	3	2517	3	TDRD6	6	46658380	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	2007	46658380	124456687	190	1722											
LGSN	51557	broad.mit.edu	37	chr6	63990680	63990680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgaccaggcctggtagagGaggaaaaactctcgacattg	12	9	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:63990680G>A	uc003peh.2	-	4	810	c.776C>T	c.(775-777)TCC>TTC	p.S259F	LGSN_uc003pei.2_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	259					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(2)	2					L-Glutamic Acid(DB00142)	CCTGGTAGAGGAGGAAAAACT	0.433													A	63990680	G	A	63990680	3	1	2	1	0	0	0	0	1	0	0	0	8759	1174	41	4	757	4	LGSN	6	63990680	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	17332300	63990680	107124387	191	1723											
LMBRD1	55788	broad.mit.edu	37	chr6	70409038	70409038	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagaagtatcatgcagagaAaaaggagtgcttggggcctg	15	6	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:70409038A>C	uc003pfa.2	-	13	1350	c.1235T>G	c.(1234-1236)TTT>TGT	p.F412C	LMBRD1_uc003pey.2_Missense_Mutation_p.F208C|LMBRD1_uc003pez.2_Missense_Mutation_p.F339C|LMBRD1_uc010kal.2_Missense_Mutation_p.F339C|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	412	Helical; Name=8; (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1						CATGCAGAGAAAAAGGAGTGC	0.338													C	70409038	A	C	70409038	3	2	2	1	0	0	0	0	1	0	0	0	8842	14	1	5	403	5	LMBRD1	6	70409038	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	6418358	70409038	100706029	192	1724											
RIMS1	22999	broad.mit.edu	37	chr6	72967833	72967833	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtacttttgccagtaggcTataggtctagtgctagagaa	12	6	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:72967833T>C	uc003pga.2	+	17	2853	c.2776T>C	c.(2776-2778)TAT>CAT	p.Y926H	RIMS1_uc011dyb.1_Missense_Mutation_p.Y551H|RIMS1_uc003pgc.2_Missense_Mutation_p.Y552H|RIMS1_uc010kaq.2_Missense_Mutation_p.Y399H|RIMS1_uc011dyc.1_Missense_Mutation_p.Y400H|RIMS1_uc010kar.2_Missense_Mutation_p.Y319H|RIMS1_uc011dyd.1_Missense_Mutation_p.Y385H|RIMS1_uc003pgf.2_Missense_Mutation_p.Y142H|RIMS1_uc003pgg.2_Missense_Mutation_p.Y143H|RIMS1_uc003pgi.2_Missense_Mutation_p.Y142H|RIMS1_uc003pgh.2_Missense_Mutation_p.Y142H|RIMS1_uc003pgd.2_Missense_Mutation_p.Y143H|RIMS1_uc003pge.2_Missense_Mutation_p.Y143H|RIMS1_uc011dye.1_5'UTR|RIMS1_uc011dyf.1_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.Y552H|RIMS1_uc010kas.1_Missense_Mutation_p.Y385H	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	926					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCCAGTAGGCTATAGGTCTAG	0.373													C	72967833	T	C	72967833	3	2	2	1	0	0	0	0	1	0	0	0	13367	1522	53	3	3005	3	RIMS1	6	72967833	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	2558795	72967833	98147234	193	1725											
COL12A1	1303	broad.mit.edu	37	chr6	75833113	75833113	+	Frame_Shift_Del	DEL	T	T	-													tctgtaggggcttctgttggTttcacagctaaaatttaaaa							TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:75833113delT	uc003phs.2	-	43	7045	c.6879delA	c.(6877-6879)AAAfs	p.K2293fs	COL12A1_uc003pht.2_Frame_Shift_Del_p.K1129fs	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2293					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CTTCTGTTGGTTTCACAGCta	0.413													-	75833113	T	-	75833113	7	5	2	1	0	1	0	1	0	0	0	0	3669	1722	60	0	2408	0	COL12A1	6	75833113	Frame_Shift_Del	DEL	T	TCGA-B7-5818-01A-11D-1600-08	2865280	75833113	95281954	194	1726											
C6orf167	253714	broad.mit.edu	37	chr6	97609879	97609879	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aataagcttacaaacaaaccTtgtggttcactgactaacac	5	10	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:97609879T>G	uc003ppb.2	-	22	3650	c.3384A>C	c.(3382-3384)CAA>CAC	p.Q1128H	C6orf167_uc011eaf.1_Missense_Mutation_p.Q1088H	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	1128					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		CAAACAAACCTTGTGGTTCAC	0.333													G	97609879	T	G	97609879	3	3	2	1	0	0	0	0	1	0	0	0	2342	1623	56	5	363	5	C6orf167	6	97609879	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	21776766	97609879	73505188	195	1727											
SFRS18	25957	broad.mit.edu	37	chr6	99849296	99849296	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tactggaactaccactactaGaacttcccgacctactcctt	4	15	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:99849296G>A	uc003ppo.3	-	12	1766	c.1538C>T	c.(1537-1539)TCT>TTT	p.S513F	SFRS18_uc003ppl.2_Missense_Mutation_p.S59F|SFRS18_uc003ppp.3_Missense_Mutation_p.S513F|SFRS18_uc011eag.1_Missense_Mutation_p.S513F	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	513	Ser-rich.					nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		accactactaGAACTTCCCGA	0.284													A	99849296	G	A	99849296	3	1	2	1	0	0	0	0	1	0	0	0	14174	942	33	4	883	4	SFRS18	6	99849296	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	2239417	99849296	71265771	196	1728											
LIN28B	389421	broad.mit.edu	37	chr6	105526496	105526496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccctcgagaagtgggaggCgggcatggctgtacatcacc	14	12	1	1	rs141067774	byFrequency	TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:105526496C>T	uc003pqv.1	+	4	794	c.591C>T	c.(589-591)GGC>GGT	p.G197G	LIN28B_uc010kda.1_3'UTR	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	lin-28 homolog B	197					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding				0		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				AAGTGGGAGGCGGGCATGGCT	0.557													T	105526496	C	T	105526496	2	4	2	1	0	0	0	0	0	0	0	1	8806	755	27	1		1	LIN28B	6	105526496	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	5677200	105526496	65588571	197	1729											
SLC22A16	85413	broad.mit.edu	37	chr6	110777963	110777963	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgatgtgttctccctcttaTtcctgctacaccttgagagc	7	13	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:110777963T>G	uc003puf.2	-	2	378	c.311A>C	c.(310-312)AAT>ACT	p.N104T	SLC22A16_uc003pue.2_Missense_Mutation_p.N85T|SLC22A16_uc003pug.2_Missense_Mutation_p.N104T	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	104					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CTCCCTCTTATTCCTGCTACA	0.473													G	110777963	T	G	110777963	3	3	2	1	0	0	0	0	1	0	0	0	14447	1493	52	5	1450	5	SLC22A16	6	110777963	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	5251467	110777963	60337104	198	1730											
HINT3	135114	broad.mit.edu	37	chr6	126288037	126288037	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgttttttcctttagaatgAggacctaatttgcttcaaag	7	6	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:126288037A>T	uc003qal.3	+	2	469	c.206A>T	c.(205-207)GAG>GTG	p.E69V	HINT3_uc010keu.2_5'UTR	NM_138571	NP_612638	Q9NQE9	HINT3_HUMAN	histidine triad nucleotide binding protein 3	69	HIT.					mitochondrion|nucleolus	hydrolase activity				0				UCEC - Uterine corpus endometrioid carcinoma (4;0.153)|GBM - Glioblastoma multiforme(226;0.0321)		CTTTAGAATGAGGACCTAATT	0.338													T	126288037	A	T	126288037	3	4	2	1	0	0	0	0	1	0	0	0	7113	304	11	5	212	5	HINT3	6	126288037	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	15510074	126288037	44827030	199	1731											
RBAK	57786	broad.mit.edu	37	chr7	5104689	5104689	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccagccacttccaaaAggggagaaatcctatgaatg	11	10	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:5104689A>T	uc010kss.1	+	6	1926	c.1602A>T	c.(1600-1602)AAA>AAT	p.K534N	LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.K534N	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	534	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CACTTCCAAAAGGGGAGAAAT	0.368													T	5104689	A	T	5104689	3	4	2	1	0	0	0	0	1	0	0	0	13100	69	3	5	1616	5	RBAK	7	5104689	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08		5104689	154033974	200	1732											
RAC1	5879	broad.mit.edu	37	chr7	6442041	6442041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtcctctgcccgcctccCgtgaagaagaggaagagaaa	12	12	1	4	rs144238799	byFrequency	TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:6442041C>T	uc003spx.2	+	6	784	c.543C>T	c.(541-543)CCC>CCT	p.P181P	RAC1_uc003spw.2_Silent_p.P200P	NM_006908	NP_008839	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1	181					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			lung(2)	2		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	GCCCGCCTCCCGTGAAGAAGA	0.522													T	6442041	C	T	6442041	2	4	2	1	0	0	0	0	0	0	0	1	12974	639	23	1		1	RAC1	7	6442041	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	1337352	6442041	152696622	201	1733											
RPA3	6119	broad.mit.edu	37	chr7	7676645	7676645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagatcaatcatgttgcaCaatccctaaaggataaaact	5	9	3	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:7676645C>T	uc003sri.2	-	8	1524	c.352G>A	c.(352-354)GTG>ATG	p.V118M	RPA3_uc003srh.2_Missense_Mutation_p.V79M	NM_002947	NP_002938	P35244	RFA3_HUMAN	replication protein A3, 14kDa	118					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	cytoplasm|DNA replication factor A complex|nucleoplasm	protein binding|single-stranded DNA binding			large_intestine(1)	1		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		TCATGTTGCACAATCCCTAAA	0.333								Direct_reversal_of_damage|NER					T	7676645	C	T	7676645	3	4	2	1	0	0	0	0	1	0	0	0	13538	478	17	4	17	4	RPA3	7	7676645	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	1234604	7676645	151462018	202	1734											
TMEM195	392636	broad.mit.edu	37	chr7	15427074	15427074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtcttggtttacctggaCcccatcccggtcccttaaat	7	14	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:15427074C>T	uc003stb.1	-	9	1084	c.914G>A	c.(913-915)GGT>GAT	p.G305D		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	305					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0						TTTACCTGGACCCCATCCCGG	0.388													T	15427074	C	T	15427074	3	4	2	1	0	0	0	0	1	0	0	0	16114	507	18	4	443	4	TMEM195	7	15427074	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	7750429	15427074	143711589	203	1735											
DNAH11	8701	broad.mit.edu	37	chr7	21751479	21751479	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagatctgggctggaatccGtgagtatttctttttgtttt	10	6	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:21751479G>A	uc003svc.2	+	43	7035	c.7004_splice	c.e43+1	p.P2335_splice		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GCTGGAATCCGTGAGTATTTC	0.274									Kartagener_syndrome				A	21751479	G	A	21751479	5	1	2	1	0	0	0	0	0	0	1	0	4599	1159	40	1	7172	1	DNAH11	7	21751479	Splice_Site	SNP	G	TCGA-B7-5818-01A-11D-1600-08	6324405	21751479	137387184	204	1736											
HOXA6	3203	broad.mit.edu	37	chr7	27187000	27187000	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtcggcgccttcgtcatgGagtgctttgccctgcccgct	13	15	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:27187000G>A	uc003syo.1	-	1	369	c.369C>T	c.(367-369)CTC>CTT	p.L123L	uc003syp.1_Missense_Mutation_p.G28E|HOXA6_uc003syq.1_RNA	NM_024014	NP_076919	P31267	HXA6_HUMAN	homeobox A6	123						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						CTTCGTCATGGAGTGCTTTGC	0.622													A	27187000	G	A	27187000	2	1	2	1	0	0	0	0	0	0	0	1	7296	1161	41	4		4	HOXA6	7	27187000	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	5435521	27187000	131951663	205	1737											
CRHR2	1395	broad.mit.edu	37	chr7	30695305	30695305	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcccaggaggggcaggAgcaccagggtggccttcact	16	11	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:30695305A>G	uc003tbn.2	-	10	1188	c.944T>C	c.(943-945)CTC>CCC	p.L315P	CRHR2_uc010kvw.1_Missense_Mutation_p.L315P|CRHR2_uc010kvx.1_Missense_Mutation_p.L314P|CRHR2_uc010kvy.1_Missense_Mutation_p.L151P|CRHR2_uc003tbo.2_Missense_Mutation_p.L301P|CRHR2_uc003tbp.2_Missense_Mutation_p.L342P	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	315	Helical; Name=6; (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(2)|ovary(1)|skin(1)	4						GAGGGGCAGGAGCACCAGGGT	0.617													G	30695305	A	G	30695305	3	3	2	1	0	0	0	0	1	0	0	0	3872	304	11	3	303	3	CRHR2	7	30695305	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	3508305	30695305	128443358	206	1738											
HERPUD2	64224	broad.mit.edu	37	chr7	35674016	35674016	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgacctccttcttgcctaAaaggaaaccatccagcttgg	8	12	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:35674016A>C	uc003tet.2	-	7	1770	c.965T>G	c.(964-966)TTT>TGT	p.F322C	HERPUD2_uc003tes.3_Missense_Mutation_p.F322C	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	322	Helical; (Potential).				response to unfolded protein	integral to membrane				ovary(3)	3						TTCTTGCCTAAAAGGAAACCA	0.348													C	35674016	A	C	35674016	3	2	2	1	0	0	0	0	1	0	0	0	7064	14	1	5	263	5	HERPUD2	7	35674016	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	4978711	35674016	123464647	207	1739											
AOAH	313	broad.mit.edu	37	chr7	36580049	36580049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagagtctgcatgacgttGgagtagagtttctcaggagt	13	6	3	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:36580049G>A	uc003tfh.3	-	16	1583	c.1182C>T	c.(1180-1182)TCC>TCT	p.S394S	AOAH_uc010kxf.2_Silent_p.S394S|AOAH_uc011kba.1_Silent_p.S362S	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor	394					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			skin(1)	1						GCATGACGTTGGAGTAGAGTT	0.443													A	36580049	G	A	36580049	2	1	2	1	0	0	0	0	0	0	0	1	726	1335	47	4		4	AOAH	7	36580049	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	906033	36580049	122558614	208	1740											
ZMIZ2	83637	broad.mit.edu	37	chr7	44801066	44801066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaagcgggccttgtgacgAgttgcggctgaccttccctg	15	11	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:44801066A>G	uc003tlr.2	+	10	1382	c.1259A>G	c.(1258-1260)GAG>GGG	p.E420G	ZMIZ2_uc003tlq.2_Missense_Mutation_p.E362G|ZMIZ2_uc003tls.2_Missense_Mutation_p.E394G|ZMIZ2_uc003tlt.2_Missense_Mutation_p.E43G|ZMIZ2_uc010kyj.2_5'UTR	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	420					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						CCTTGTGACGAGTTGCGGCTG	0.647													G	44801066	A	G	44801066	3	3	2	1	0	0	0	0	1	0	0	0	17694	304	11	3	1293	3	ZMIZ2	7	44801066	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	8221017	44801066	114337597	209	1741											
PION	54103	broad.mit.edu	37	chr7	76941425	76941425	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagaaactcacctgtttcTtatagttctgaagcagtcgc	8	10	3	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:76941425T>C	uc003ugf.2	-	29	2445	c.2366A>G	c.(2365-2367)AAG>AGG	p.K789R	PION_uc011kgo.1_Missense_Mutation_p.K110R|PION_uc003ugd.2_Missense_Mutation_p.K183R	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog	789					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1						CACCTGTTTCTTATAGTTCTG	0.408													C	76941425	T	C	76941425	3	2	2	1	0	0	0	0	1	0	0	0	11934	1609	56	3	210	3	PION	7	76941425	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	32140359	76941425	82197238	210	1742											
PCLO	27445	broad.mit.edu	37	chr7	82474775	82474775	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgctgccaactgcttaggatCaacccctggggatttcgcct	10	13	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:82474775C>T	uc003uhx.2	-	13	14147	c.13858G>A	c.(13858-13860)GAT>AAT	p.D4620N	PCLO_uc003uhv.2_Missense_Mutation_p.D4620N|PCLO_uc003uht.1_Missense_Mutation_p.D71N|PCLO_uc003uhu.1_Missense_Mutation_p.D50N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4508					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TGCTTAGGATCAACCCCTGGG	0.423													T	82474775	C	T	82474775	3	4	2	1	0	0	0	0	1	0	0	0	11583	826	29	4	1639	4	PCLO	7	82474775	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	5533350	82474775	76663888	211	1743											
ABCB1	5243	broad.mit.edu	37	chr7	87179266	87179266	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cggccatagcgaatgttttcAgctatcgtggtggcaaacaa	11	9	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:87179266A>C	uc003uiz.1	-	14	1873	c.1455T>G	c.(1453-1455)GCT>GCG	p.A485A	ABCB1_uc011khc.1_Silent_p.A421A	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	485	ABC transporter 1.|Cytoplasmic (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GAATGTTTTCAGCTATCGTGG	0.433													C	87179266	A	C	87179266	2	2	2	1	0	0	0	0	0	0	0	1	40	175	7	5		5	ABCB1	7	87179266	Silent	SNP	A	TCGA-B7-5818-01A-11D-1600-08	4704491	87179266	71959397	212	1744											
FZD1	8321	broad.mit.edu	37	chr7	90895500	90895500	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcggctggcatgaagtgGggccacgaggccatcgaagc	17	11	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:90895500G>A	uc003ula.2	+	1	1718	c.1305G>A	c.(1303-1305)TGG>TGA	p.W435*		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	435	Cytoplasmic (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GCATGAAGTGGGGCCACGAGG	0.607													A	90895500	G	A	90895500	4	1	2	1	0	0	0	0	0	1	0	0	6128	1241	43	4	1307	4	FZD1	7	90895500	Nonsense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	3716234	90895500	68243163	213	1745											
SAMD9L	219285	broad.mit.edu	37	chr7	92763078	92763078	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgataaagattgatgAtttttgcaaatattggttta	9	1	0	5			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:92763078A>C	uc003umh.1	-	5	3423	c.2207T>G	c.(2206-2208)ATC>AGC	p.I736S	SAMD9L_uc003umj.1_Missense_Mutation_p.I736S|SAMD9L_uc003umi.1_Missense_Mutation_p.I736S|SAMD9L_uc010lfb.1_Missense_Mutation_p.I736S|SAMD9L_uc003umk.1_Missense_Mutation_p.I736S|SAMD9L_uc010lfc.1_Missense_Mutation_p.I736S|SAMD9L_uc010lfd.1_Missense_Mutation_p.I736S|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	736										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAGATTGATGATTTTTGCAAA	0.363													C	92763078	A	C	92763078	3	2	2	1	0	0	0	0	1	0	0	0	13827	333	12	5	2551	5	SAMD9L	7	92763078	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	1867578	92763078	66375585	214	1746											
RELN	5649	broad.mit.edu	37	chr7	103183254	103183254	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaagaggttgtttccacTagaaaggattccacactttc	8	8	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:103183254T>C	uc003vca.2	-	43	6755	c.6595A>G	c.(6595-6597)AGT>GGT	p.S2199G	RELN_uc010liz.2_Missense_Mutation_p.S2199G	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2199					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTGTTTCCACTAGAAAGGATT	0.378													C	103183254	T	C	103183254	3	2	2	1	0	0	0	0	1	0	0	0	13220	1522	53	3	3879	3	RELN	7	103183254	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	10420176	103183254	55955409	215	1747											
CDHR3	222256	broad.mit.edu	37	chr7	105615310	105615310	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggagaagcactacacctaAtcctcttacctgctacaggc	9	13	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:105615310A>C	uc003vdl.3	+	2	175	c.67A>C	c.(67-69)ATC>CTC	p.I23L	CDHR3_uc003vdk.2_5'UTR|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Intron|CDHR3_uc011klt.1_Intron	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	23	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						ACTACACCTAATCCTCTTACC	0.473													C	105615310	A	C	105615310	3	2	2	1	0	0	0	0	1	0	0	0	3120	101	4	5	73	5	CDHR3	7	105615310	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	2432056	105615310	53523353	216	1748											
CDHR3	222256	broad.mit.edu	37	chr7	105673077	105673077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgagggtggcaagctgggCaacccaaagaacagaaatcc	12	9	0	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:105673077C>T	uc003vdl.3	+	19	2700	c.2592C>T	c.(2590-2592)GGC>GGT	p.G864G	CDHR3_uc003vdk.2_3'UTR|CDHR3_uc003vdm.3_Silent_p.G851G|CDHR3_uc011klt.1_Silent_p.G776G|CDHR3_uc003vdn.2_3'UTR	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	864	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						GCAAGCTGGGCAACCCAAAGA	0.542													T	105673077	C	T	105673077	2	4	2	1	0	0	0	0	0	0	0	1	3120	697	25	2		2	CDHR3	7	105673077	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	57767	105673077	53465586	217	1749											
ST7	7982	broad.mit.edu	37	chr7	116759770	116759770	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gattccaataggcaaagtgtCtcaggtatggaatttccttc	9	8	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:116759770C>T	uc003vin.2	+	3	604	c.390C>T	c.(388-390)GTC>GTT	p.V130V	ST7_uc011knl.1_Silent_p.V130V|ST7_uc003vio.2_Silent_p.V130V|ST7_uc003viq.2_Silent_p.V84V|ST7_uc011knm.1_Silent_p.V87V|ST7_uc003vir.2_Silent_p.V78V|ST7OT2_uc003viu.2_Intron|ST7_uc011knn.1_Silent_p.V78V|ST7OT2_uc003viw.2_Intron|ST7_uc003vix.1_5'UTR	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	130						integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GGCAAAGTGTCTCAGGTATGG	0.373													T	116759770	C	T	116759770	2	4	2	1	0	0	0	0	0	0	0	1	15228	900	32	4		4	ST7	7	116759770	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	11086693	116759770	42378893	218	1750											
RNF148	378925	broad.mit.edu	37	chr7	122342678	122342678	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaacctgaaatgttatatTcaggtgagctgtccaaatgg	9	8	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:122342678T>G	uc003vkk.1	-	1	344	c.127A>C	c.(127-129)AAT>CAT	p.N43H	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF148_uc010lkr.1_Missense_Mutation_p.N43H	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	ring finger protein 148 precursor	43						integral to membrane	zinc ion binding				0						AATGTTATATTCAGGTGAGCT	0.443													G	122342678	T	G	122342678	3	3	2	1	0	0	0	0	1	0	0	0	13449	1783	62	5	794	5	RNF148	7	122342678	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	5582908	122342678	36795985	219	1751											
FLNC	2318	broad.mit.edu	37	chr7	128470736	128470736	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgccggcctcggcctgggCgatgagacagacgagatgcc	16	13	0	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:128470736C>T	uc003vnz.3	+	1	254	c.45C>T	c.(43-45)GGC>GGT	p.G15G	FLNC_uc003voa.3_Silent_p.G15G	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	15	Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						TCGGCCTGGGCGATGAGACAG	0.468													T	128470736	C	T	128470736	2	4	2	1	0	0	0	0	0	0	0	1	5935	755	27	1		1	FLNC	7	128470736	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	6128058	128470736	30667927	220	1752											
WDR91	29062	broad.mit.edu	37	chr7	134890686	134890686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcacacacactcacagttccGagtcccccaggcggtccatg	8	17	2	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:134890686G>A	uc003vsp.2	-	5	781	c.719C>T	c.(718-720)TCG>TTG	p.S240L	WDR91_uc010lmq.2_5'UTR|WDR91_uc010lmr.2_RNA	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	WD repeat domain 91	240										breast(2)|ovary(1)|skin(1)	4						TCACAGTTCCGAGTCCCCCAG	0.552													A	134890686	G	A	134890686	3	1	2	1	0	0	0	0	1	0	0	0	17335	1059	37	1	1568	1	WDR91	7	134890686	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	6419950	134890686	24247977	221	1753											
DENND2A	27147	broad.mit.edu	37	chr7	140285447	140285447	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggaaaattcaagacacacTtctttcccaggcagcgacca	7	13	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:140285447T>G	uc010lnj.2	-	3	1332	c.1187A>C	c.(1186-1188)AAG>ACG	p.K396T	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.K396T|DENND2A_uc003vvw.2_Missense_Mutation_p.K396T|DENND2A_uc003vvx.2_Missense_Mutation_p.K396T	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	396										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					CAAGACACACTTCTTTCCCAG	0.522													G	140285447	T	G	140285447	3	3	2	1	0	0	0	0	1	0	0	0	4429	1609	56	5	1906	5	DENND2A	7	140285447	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	5394761	140285447	18853216	222	1754											
ZNF282	8427	broad.mit.edu	37	chr7	148903882	148903882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagctttataacaaccttgTtaaggagaactacaaaaccc	7	9	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:148903882T>C	uc003wfm.2	+	3	785	c.680T>C	c.(679-681)GTT>GCT	p.V227A	ZNF282_uc011kun.1_Missense_Mutation_p.V227A|ZNF282_uc003wfn.2_Missense_Mutation_p.V167A|ZNF282_uc003wfo.2_Missense_Mutation_p.V167A	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	227	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		AACAACCTTGTTAAGGAGAAC	0.463													C	148903882	T	C	148903882	3	2	2	1	0	0	0	0	1	0	0	0	17816	1725	60	3	690	3	ZNF282	7	148903882	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	8618435	148903882	10234781	223	1755											
MYOM2	9172	broad.mit.edu	37	chr8	2092696	2092696	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttctcggtgaaggtggagCaggccaagtacgtcagcatg	14	9	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:2092696C>T	uc003wpx.3	+	37	4327	c.4189C>T	c.(4189-4191)CAG>TAG	p.Q1397*	MYOM2_uc011kwi.1_Nonsense_Mutation_p.Q822*	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	1397	Ig-like C2-type 5.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAAGGTGGAGCAGGCCAAGTA	0.537													T	2092696	C	T	2092696	4	4	2	1	0	0	0	0	0	1	0	0	10092	711	25	2	4331	2	MYOM2	8	2092696	Nonsense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08		2092696	144271326	224	1756											
CSMD1	64478	broad.mit.edu	37	chr8	2836245	2836245	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacaggatactcattccatActcaaaactctcagggaagt	7	10	3	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:2836245A>G	uc011kwk.1	-	55	8848	c.8458T>C	c.(8458-8460)TAT>CAT	p.Y2820H	CSMD1_uc011kwj.1_Missense_Mutation_p.Y2149H|CSMD1_uc010lrg.2_Missense_Mutation_p.Y830H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2820	Extracellular (Potential).|Sushi 20.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCATTCCATACTCAAAACTC	0.453													G	2836245	A	G	2836245	3	3	2	1	0	0	0	0	1	0	0	0	3944	391	14	3	2303	3	CSMD1	8	2836245	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	743549	2836245	143527777	225	1757											
PRSS55	203074	broad.mit.edu	37	chr8	10383244	10383244	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctcatccccccagcccagTcagtggtgagtacaggggca	11	16	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:10383244T>C	uc003wta.2	+	1	164	c.149T>C	c.(148-150)GTC>GCC	p.V50A	uc010lru.2_Intron	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	hypothetical protein LOC203074 precursor	50	Extracellular (Potential).				proteolysis	integral to membrane	serine-type endopeptidase activity			ovary(1)	1						CCCAGCCCAGTCAGTGGTGAG	0.667													C	10383244	T	C	10383244	3	2	2	1	0	0	0	0	1	0	0	0	12634	1667	58	3	151	3	PRSS55	8	10383244	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	7546999	10383244	135980778	226	1758											
DLC1	10395	broad.mit.edu	37	chr8	12960317	12960317	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actcgtttccgatgaggactAatttctagcttcatcaccgc	7	12	3	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:12960317A>C	uc003wwm.2	-	8	1992	c.1548T>G	c.(1546-1548)ATT>ATG	p.I516M	DLC1_uc003wwk.1_Missense_Mutation_p.I79M|DLC1_uc003wwl.1_Missense_Mutation_p.I113M|DLC1_uc011kxx.1_Missense_Mutation_p.I5M	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	516					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GATGAGGACTAATTTCTAGCT	0.368													C	12960317	A	C	12960317	3	2	2	1	0	0	0	0	1	0	0	0	4550	358	13	5	3082	5	DLC1	8	12960317	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	2577073	12960317	133403705	227	1759											
DCTN6	10671	broad.mit.edu	37	chr8	30034704	30034704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacctatgatcattggcaCcaataatgtgtttgaagttg	8	6	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:30034704C>T	uc003xhy.2	+	4	344	c.257C>T	c.(256-258)ACC>ATC	p.T86I		NM_006571	NP_006562	O00399	DCTN6_HUMAN	dynactin 6	86						centrosome	transferase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		ATCATTGGCACCAATAATGTG	0.353													T	30034704	C	T	30034704	3	4	2	1	0	0	0	0	1	0	0	0	4311	507	18	4	271	4	DCTN6	8	30034704	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	17074387	30034704	116329318	228	1760											
DDHD2	23259	broad.mit.edu	37	chr8	38095637	38095637	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attaccagccagttgcagggTctgatgattggggttcaaca	12	8	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:38095637T>G	uc003xlb.2	+	5	909	c.532T>G	c.(532-534)TCT>GCT	p.S178A	DDHD2_uc003xla.2_Missense_Mutation_p.S178A|DDHD2_uc003xlc.2_Missense_Mutation_p.S178A|DDHD2_uc011lbl.1_Intron	NM_015214	NP_056029	O94830	DDHD2_HUMAN	DDHD domain containing 2 isoform 1	178					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			large_intestine(1)|ovary(1)	2	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AGTTGCAGGGTCTGATGATTG	0.408													G	38095637	T	G	38095637	3	3	2	1	0	0	0	0	1	0	0	0	4327	1667	58	5	546	5	DDHD2	8	38095637	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	8060933	38095637	108268385	229	1761											
ST18	9705	broad.mit.edu	37	chr8	53028967	53028967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtctttaagttgctctcCatagatgtgatctacaacag	7	9	3	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:53028967C>T	uc003xqz.2	-	20	3027	c.2871G>A	c.(2869-2871)ATG>ATA	p.M957I	ST18_uc011ldq.1_Missense_Mutation_p.M604I|ST18_uc011ldr.1_Missense_Mutation_p.M922I|ST18_uc011lds.1_Missense_Mutation_p.M862I|ST18_uc003xra.2_Missense_Mutation_p.M957I	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	957	Potential.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGTTGCTCTCCATAGATGTGA	0.418													T	53028967	C	T	53028967	3	4	2	1	0	0	0	0	1	0	0	0	15211	594	21	4	280	4	ST18	8	53028967	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	14933330	53028967	93335055	230	1762											
C8orf46	254778	broad.mit.edu	37	chr8	67428149	67428149	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccagacatctcaagaagatGactgaagagtatccagccct	8	11	1	6			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:67428149G>A	uc003xwg.2	+	6	855	c.462G>A	c.(460-462)ATG>ATA	p.M154I	C8orf46_uc003xwh.2_RNA|C8orf46_uc011let.1_Missense_Mutation_p.D134N|C8orf46_uc003xwi.2_Missense_Mutation_p.M19I	NM_152765	NP_689978	Q8TAG6	CH046_HUMAN	hypothetical protein LOC254778	154										skin(2)	2			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TCAAGAAGATGACTGAAGAGT	0.537													A	67428149	G	A	67428149	3	1	2	1	0	0	0	0	1	0	0	0	2431	1290	45	4	484	4	C8orf46	8	67428149	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	14399182	67428149	78935873	231	1763											
CNGB3	54714	broad.mit.edu	37	chr8	87751938	87751938	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagttgacttggttttgagAgatttctcttcacctttgtt	10	6	2	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:87751938A>G	uc003ydx.2	-	2	202	c.156T>C	c.(154-156)TCT>TCC	p.S52S		NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	52	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						TGGTTTTGAGAGATTTCTCTT	0.323													G	87751938	A	G	87751938	2	3	2	1	0	0	0	0	0	0	0	1	3601	291	11	3		3	CNGB3	8	87751938	Silent	SNP	A	TCGA-B7-5818-01A-11D-1600-08	20323789	87751938	58612084	232	1764											
KIAA1429	25962	broad.mit.edu	37	chr8	95527160	95527160	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctaaggtttttcagaggTtcaagccacttgccaagttc	8	9	3	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:95527160T>G	uc003ygo.1	-	11	2701	c.2688A>C	c.(2686-2688)GAA>GAC	p.E896D	KIAA1429_uc003ygp.2_Missense_Mutation_p.E896D|KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	896					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTTTCAGAGGTTCAAGCCACT	0.254													G	95527160	T	G	95527160	3	3	2	1	0	0	0	0	1	0	0	0	8231	1722	60	5	2860	5	KIAA1429	8	95527160	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	7775222	95527160	50836862	233	1765											
COLEC10	10584	broad.mit.edu	37	chr8	120118230	120118230	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcgggtgttcattggcgtgAatgaccttgaaagggaggga	16	5	1	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:120118230A>T	uc003yoo.2	+	6	731	c.634A>T	c.(634-636)AAT>TAT	p.N212Y		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 precursor	212	C-type lectin.					collagen|cytoplasm	mannose binding			ovary(2)|skin(1)	3	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CATTGGCGTGAATGACCTTGA	0.522													T	120118230	A	T	120118230	3	4	2	1	0	0	0	0	1	0	0	0	3710	246	9	5	656	5	COLEC10	8	120118230	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	24591070	120118230	26245792	234	1766											
GSDMC	56169	broad.mit.edu	37	chr8	130763788	130763788	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccttaataaatacttacTttgccagaagggttcctcta	5	12	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:130763788T>C	uc003ysr.2	-	10	1825	c.943A>G	c.(943-945)AAT>GAT	p.N315D		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	melanoma-derived leucine zipper, extra-nuclear	315						mitochondrion				ovary(2)|skin(1)	3						AAATACTTACTTTGCCAGAAG	0.468													C	130763788	T	C	130763788	3	2	2	1	0	0	0	0	1	0	0	0	6818	1623	56	3	603	3	GSDMC	8	130763788	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	10645558	130763788	15600234	235	1767											
GSDMC	56169	broad.mit.edu	37	chr8	130788350	130788350	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctcccatggcctcacctTttttgaaagtcttccaggtt	6	14	3	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:130788350T>G	uc003ysr.2	-	3	1284	c.402A>C	c.(400-402)AAA>AAC	p.K134N		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	melanoma-derived leucine zipper, extra-nuclear	134						mitochondrion				ovary(2)|skin(1)	3						GGCCTCACCTTTTTTGAAAGT	0.478													G	130788350	T	G	130788350	3	3	2	1	0	0	0	0	1	0	0	0	6818	1838	64	5	1172	5	GSDMC	8	130788350	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	24562	130788350	15575672	236	1768											
CNTLN	54875	broad.mit.edu	37	chr9	17309068	17309068	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacagctttacaatgagTtacatatttgttttgaaacc	6	6	0	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:17309068T>G	uc003zmz.2	+	8	1185	c.1159T>G	c.(1159-1161)TTA>GTA	p.L387V	CNTLN_uc003zmy.2_Missense_Mutation_p.L387V|CNTLN_uc010mio.2_Missense_Mutation_p.L66V	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	387						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		TTACAATGAGTTACATATTTG	0.229													G	17309068	T	G	17309068	3	3	2	1	0	0	0	0	1	0	0	0	3639	1722	60	5	1219	5	CNTLN	9	17309068	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08		17309068	123904363	237	1769											
LINGO2	158038	broad.mit.edu	37	chr9	27949805	27949805	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcagagaacatgcctgcttCaatagtgctgatgggattgt	12	7	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:27949805C>T	uc003zqu.1	-	2	1059	c.865G>A	c.(865-867)GAA>AAA	p.E289K	LINGO2_uc010mjf.1_Missense_Mutation_p.E289K|LINGO2_uc003zqv.1_Missense_Mutation_p.E289K	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	289	LRR 10.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		ATGCCTGCTTCAATAGTGCTG	0.512													T	27949805	C	T	27949805	3	4	2	1	0	0	0	0	1	0	0	0	8815	835	29	4	959	4	LINGO2	9	27949805	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	10640737	27949805	113263626	238	1770											
ACO1	48	broad.mit.edu	37	chr9	32430504	32430504	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgggccaactatttagcctCtccccccttagtaatagcat	6	15	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:32430504C>T	uc003zqw.3	+	14	1813	c.1658C>T	c.(1657-1659)TCT>TTT	p.S553F	ACO1_uc010mjh.1_Missense_Mutation_p.S387F|ACO1_uc003zqx.3_Missense_Mutation_p.S553F|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	553					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TATTTAGCCTCTCCCCCCTTA	0.443													T	32430504	C	T	32430504	3	4	2	1	0	0	0	0	1	0	0	0	146	913	32	4	1708	4	ACO1	9	32430504	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	4480699	32430504	108782927	239	1771											
TAF1L	138474	broad.mit.edu	37	chr9	32634599	32634599	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catcatcgtgatttcatcatCagcgagacactgctctgggg	10	11	5	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:32634599C>T	uc003zrg.1	-	1	1069	c.979G>A	c.(979-981)GAT>AAT	p.D327N	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	327					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATTTCATCATCAGCGAGACAC	0.473													T	32634599	C	T	32634599	3	4	2	1	0	0	0	0	1	0	0	0	15520	826	29	4	4505	4	TAF1L	9	32634599	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	204095	32634599	108578832	240	1772											
UBE2R2	54926	broad.mit.edu	37	chr9	33900231	33900231	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgacccacagagtggagaActgccttctgaaaggtggaa	13	8	1	4			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:33900231A>G	uc003ztm.2	+	3	898	c.324A>G	c.(322-324)GAA>GAG	p.E108E		NM_017811	NP_060281	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme UBC3B	108					protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity				0			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		AGAGTGGAGAACTGCCTTCTG	0.393													G	33900231	A	G	33900231	2	3	2	1	0	0	0	0	0	0	0	1	16868	40	2	3		3	UBE2R2	9	33900231	Silent	SNP	A	TCGA-B7-5818-01A-11D-1600-08	1265632	33900231	107313200	241	1773											
KIAA1539	80256	broad.mit.edu	37	chr9	35107429	35107429	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctccagaagggtgtggcTttggcatcagaactgttggc	15	8	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:35107429T>G	uc003zwl.2	-	3	1168	c.843A>C	c.(841-843)AAA>AAC	p.K281N	KIAA1539_uc003zwm.2_Missense_Mutation_p.K281N|KIAA1539_uc003zwn.2_5'UTR|KIAA1539_uc003zwo.2_Missense_Mutation_p.K281N|KIAA1539_uc003zwp.1_Missense_Mutation_p.K281N|KIAA1539_uc010mkk.1_RNA	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	281						nucleus				ovary(2)	2	all_epithelial(49;0.217)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGGTGTGGCTTTGGCATCAG	0.537													G	35107429	T	G	35107429	3	3	2	1	0	0	0	0	1	0	0	0	8242	1606	56	5	801	5	KIAA1539	9	35107429	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	1207198	35107429	106106002	242	1774											
UNC13B	10497	broad.mit.edu	37	chr9	35295915	35295915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccttgattatccagagcGgcgggctatcaggtgggtat	14	8	1	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:35295915G>A	uc003zwq.2	+	8	1041	c.749G>A	c.(748-750)CGG>CAG	p.R250Q	UNC13B_uc010mkl.1_Missense_Mutation_p.R250Q|UNC13B_uc003zwr.2_Missense_Mutation_p.R250Q	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	250					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TATCCAGAGCGGCGGGCTATC	0.478													A	35295915	G	A	35295915	3	1	2	1	0	0	0	0	1	0	0	0	16982	1116	39	1	779	1	UNC13B	9	35295915	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	188486	35295915	105917516	243	1775											
C9orf41	138199	broad.mit.edu	37	chr9	77598770	77598770	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtatatgttgacaatacAgattctttttccacctgcaa	5	9	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:77598770A>G	uc004ajq.2	-	8	1296	c.1143T>C	c.(1141-1143)TCT>TCC	p.S381S	uc004ajp.2_Intron	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN	hypothetical protein LOC138199	381										ovary(1)|skin(1)	2						TTGACAATACAGATTCTTTTT	0.313													G	77598770	A	G	77598770	2	3	2	1	0	0	0	0	0	0	0	1	2482	175	7	3		3	C9orf41	9	77598770	Silent	SNP	A	TCGA-B7-5818-01A-11D-1600-08	42302855	77598770	63614661	244	1776											
KIF27	55582	broad.mit.edu	37	chr9	86518481	86518481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcgaggaggaggggctgaCacatgtgatcatgacagtct	14	7	2	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:86518481C>T	uc004ana.2	-	4	1096	c.952G>A	c.(952-954)GTC>ATC	p.V318I	KIF27_uc010mpw.2_Missense_Mutation_p.V318I|KIF27_uc010mpx.2_Missense_Mutation_p.V318I	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	318					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						GAGGGGCTGACACATGTGATC	0.443													T	86518481	C	T	86518481	3	4	2	1	0	0	0	0	1	0	0	0	8296	478	17	4	3313	4	KIF27	9	86518481	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	8919711	86518481	54694950	245	1777											
CDK20	23552	broad.mit.edu	37	chr9	90589344	90589344	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctccccgatgcggcccagGatgcagtactggtccatccc	10	18	0	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:90589344G>A	uc004apr.2	-	1	324	c.18C>T	c.(16-18)ATC>ATT	p.I6I	CDK20_uc004aps.2_Silent_p.I6I|CDK20_uc004apt.2_Silent_p.I6I|CDK20_uc004apu.2_Silent_p.I6I	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	cell cycle related kinase isoform 3	6	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						TGCGGCCCAGGATGCAGTACT	0.682													A	90589344	G	A	90589344	2	1	2	1	0	0	0	0	0	0	0	1	3137	1164	41	4		4	CDK20	9	90589344	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	4070863	90589344	50624087	246	1778											
C9orf102	375748	broad.mit.edu	37	chr9	98691033	98691033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacagcagtactgtatggcGtctgggcttgattaccgacg	12	10	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:98691033G>A	uc004avt.3	+	11	2059	c.1671G>A	c.(1669-1671)GCG>GCA	p.A557A	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Silent_p.A259A|C9orf102_uc010mry.1_Silent_p.A259A|C9orf102_uc010mrz.2_Silent_p.A368A|C9orf102_uc004avu.2_5'UTR	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	557	Helicase C-terminal.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				ACTGTATGGCGTCTGGGCTTG	0.408													A	98691033	G	A	98691033	2	1	2	1	0	0	0	0	0	0	0	1	2445	1132	40	1		1	C9orf102	9	98691033	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	8101689	98691033	42522398	247	1779											
FOXE1	2304	broad.mit.edu	37	chr9	100617277	100617277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatgctcgccatgctgccGcttatcccggtgggatagat	11	13	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:100617277G>A	uc004axu.2	+	1	1741	c.1081G>A	c.(1081-1083)GCT>ACT	p.A361T		NM_004473	NP_004464	O00358	FOXE1_HUMAN	forkhead box E1	361					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		Acute lymphoblastic leukemia(62;0.158)				CCATGCTGCCGCTTATCCCGG	0.637													A	100617277	G	A	100617277	3	1	2	1	0	0	0	0	1	0	0	0	6003	1087	38	1	1083	1	FOXE1	9	100617277	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	1926244	100617277	40596154	248	1780											
NIPSNAP3B	55335	broad.mit.edu	37	chr9	107533246	107533246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacacaaaagtagttggtGttttccacacagaatatgga	9	7	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:107533246G>A	uc004bci.2	+	4	618	c.547G>A	c.(547-549)GTT>ATT	p.V183I	NIPSNAP3A_uc011lvu.1_Intron|NIPSNAP3B_uc004bcj.1_RNA	NM_018376	NP_060846	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B	183										pancreas(1)|skin(1)	2						AGTAGTTGGTGTTTTCCACAC	0.403													A	107533246	G	A	107533246	3	1	2	1	0	0	0	0	1	0	0	0	10431	1377	48	4	561	4	NIPSNAP3B	9	107533246	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	6915969	107533246	33680185	249	1781											
ZNF462	58499	broad.mit.edu	37	chr9	109689886	109689886	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatccggcagcatacggcCaccattcgaagcctctgcga	11	14	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:109689886C>T	uc004bcz.2	+	3	3982	c.3693C>T	c.(3691-3693)GCC>GCT	p.A1231A	ZNF462_uc010mto.2_Silent_p.A1079A|ZNF462_uc004bda.2_Silent_p.A1079A	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1231					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						AGCATACGGCCACCATTCGAA	0.537													T	109689886	C	T	109689886	2	4	2	1	0	0	0	0	0	0	0	1	17923	581	21	4		4	ZNF462	9	109689886	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	2156640	109689886	31523545	250	1782											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112899000	112899000	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacaaccagctcacggtgTtcttcccgagatggagagtt	10	12	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:112899000T>G	uc004bei.2	+	9	2064	c.1872T>G	c.(1870-1872)TGT>TGG	p.C624W	PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.C392W|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.C392W|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.C202W|AKAP2_uc011lwi.1_Missense_Mutation_p.C250W|AKAP2_uc004bem.2_Missense_Mutation_p.C250W|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.C210W|AKAP2_uc011lwj.1_Missense_Mutation_p.C161W|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.C161W	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	161							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						GCTCACGGTGTTCTTCCCGAG	0.567													G	112899000	T	G	112899000	3	3	2	1	0	0	0	0	1	0	0	0	11410	1731	60	5	1206	5	PALM2-AKAP2	9	112899000	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	3209114	112899000	28314431	251	1783											
PHYHD1	254295	broad.mit.edu	37	chr9	131702969	131702969	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccagcccgggataacagcctCtttgtgcccaccccagtgca	9	17	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:131702969C>T	uc004bwo.2	+	11	1611	c.678C>T	c.(676-678)CTC>CTT	p.L226L	PHYHD1_uc004bwn.2_Missense_Mutation_p.S219F|PHYHD1_uc004bwm.2_RNA|PHYHD1_uc004bwp.2_Silent_p.L205L|NUP188_uc004bwq.1_5'Flank	NM_001100876	NP_001094346	Q5SRE7	PHYD1_HUMAN	phytanoyl-CoA dioxygenase domain containing 1	226							metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						ATAACAGCCTCTTTGTGCCCA	0.627													T	131702969	C	T	131702969	2	4	2	1	0	0	0	0	0	0	0	1	11865	913	32	4		4	PHYHD1	9	131702969	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	18803969	131702969	9510462	252	1784											
MED22	6837	broad.mit.edu	37	chr9	136208530	136208530	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagaggcaggtcattagctTcgcaaaggcttgagcttttc	11	9	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:136208530T>G	uc004cdc.2	-	5	662	c.428A>C	c.(427-429)GAA>GCA	p.E143A	MED22_uc004cdd.2_3'UTR	NM_133640	NP_598395	Q15528	MED22_HUMAN	mediator complex subunit 22 isoform b	143					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		GTCATTAGCTTCGCAAAGGCT	0.612													G	136208530	T	G	136208530	3	3	2	1	0	0	0	0	1	0	0	0	9440	1783	62	5	178	5	MED22	9	136208530	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	4505561	136208530	5004901	253	1785											
SEC16A	9919	broad.mit.edu	37	chr9	139366566	139366567	+	Splice_Site	INS	-	-	GTGGGAGG													tagaggctgtagacatcctgINStgggaggaagcatttgggca							TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:139366565_139366566T>TGTGGGAGG	uc004chx.3	-	4	3877	c.3568_splice	c.e4-1	p.D1190_splice	SEC16A_uc004chv.4_Splice_Site_p.D580_splice|SEC16A_uc004chw.3_Splice_Site_p.D1190_splice|SEC16A_uc010nbn.3_Splice_Site_p.D1190_splice	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	1012	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GTAGACATCCTGTGGGAGGAAG	0.574													GTGGGAGG	139366567	-	GTGGGAGG	139366566	8	5	2	1	0	1	1	0	0	0	1	0	13986	1392	48	0		0	SEC16A	9	139366566	Splice_Site	INS	-	TCGA-B7-5818-01A-11D-1600-08	3158036	139366566	1846865	254	1786											
MAN1B1	11253	broad.mit.edu	37	chr9	139995979	139995979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctgccttcagaacaccatCcaagattccttactcggatg	7	14	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:139995979C>T	uc004cld.2	+	8	1144	c.1109C>T	c.(1108-1110)TCC>TTC	p.S370F	MAN1B1_uc004clc.2_Missense_Mutation_p.S271F|MAN1B1_uc011meo.1_Missense_Mutation_p.S271F|MAN1B1_uc011mep.1_Missense_Mutation_p.S370F|MAN1B1_uc010ncc.2_RNA|MAN1B1_uc004clf.1_5'Flank	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	alpha 1,2-mannosidase	370	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		AGAACACCATCCAAGATTCCT	0.547													T	139995979	C	T	139995979	3	4	2	1	0	0	0	0	1	0	0	0	9212	855	30	4	1139	4	MAN1B1	9	139995979	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	629413	139995979	1217452	255	1787											
SUV39H2	79723	broad.mit.edu	37	chr10	14941679	14941679	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgtgtctcattttgtgaatCacagcgtaagaagacatacg	9	7	2	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:14941679C>T	uc001inh.2	+	3	867	c.811C>T	c.(811-813)CAC>TAC	p.H271Y	SUV39H2_uc001ing.2_Missense_Mutation_p.H151Y|SUV39H2_uc001ini.2_Missense_Mutation_p.H271Y|SUV39H2_uc001inj.2_Missense_Mutation_p.H271Y|DCLRE1C_uc010qbx.1_Intron	NM_024670	NP_078946	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2	331	SET.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|ovary(1)	3						TTTTGTGAATCACAGCGTAAG	0.383													T	14941679	C	T	14941679	3	4	2	1	0	0	0	0	1	0	0	0	15410	826	29	4	817	4	SUV39H2	10	14941679	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08		14941679	120593068	256	1788											
PLXDC2	84898	broad.mit.edu	37	chr10	20466336	20466336	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttggtgtagtaaacttcaAaggtaaaaatataataataa	7	2	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:20466336A>G	uc001iqg.1	+	9	1696	c.1059A>G	c.(1057-1059)CAA>CAG	p.Q353Q	PLXDC2_uc001iqh.1_Silent_p.Q304Q|PLXDC2_uc009xkc.1_RNA	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	353	Extracellular (Potential).|PSI.					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						GTAAACTTCAAAGGtaaaaat	0.244													G	20466336	A	G	20466336	2	3	2	1	0	0	0	0	0	0	0	1	12118	11	1	3		3	PLXDC2	10	20466336	Silent	SNP	A	TCGA-B7-5818-01A-11D-1600-08	5524657	20466336	115068411	257	1789											
ARMC3	219681	broad.mit.edu	37	chr10	23250949	23250949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaaatgataaggagtctcGaacaatgctaagagacaatc	9	7	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:23250949G>A	uc001irm.3	+	7	757	c.674G>A	c.(673-675)CGA>CAA	p.R225Q	ARMC3_uc010qcv.1_Missense_Mutation_p.R225Q|ARMC3_uc010qcw.1_Intron	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	225	ARM 6.						binding				0						AAGGAGTCTCGAACAATGCTA	0.368													A	23250949	G	A	23250949	3	1	2	1	0	0	0	0	1	0	0	0	952	1058	37	1	696	1	ARMC3	10	23250949	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	2784613	23250949	112283798	258	1790											
NRP1	8829	broad.mit.edu	37	chr10	33619745	33619745	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttttcacttgggtgataagAatgaggataaccaggagatg	12	4	1	4			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:33619745A>T	uc001iwx.3	-	2	662	c.139T>A	c.(139-141)TCT>ACT	p.S47T	NRP1_uc001iwv.3_Missense_Mutation_p.S47T|NRP1_uc009xlz.2_Missense_Mutation_p.S47T|NRP1_uc001iww.3_5'UTR|NRP1_uc001iwy.3_Missense_Mutation_p.S47T|NRP1_uc001iwz.2_Missense_Mutation_p.S47T|NRP1_uc001ixa.2_Missense_Mutation_p.S47T|NRP1_uc001ixb.1_Missense_Mutation_p.S47T|NRP1_uc001ixc.1_Missense_Mutation_p.S47T	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	47	CUB 1.|Extracellular (Potential).				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	GGGTGATAAGAATGAGGATAA	0.418													T	33619745	A	T	33619745	3	4	2	1	0	0	0	0	1	0	0	0	10660	246	9	5	2707	5	NRP1	10	33619745	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	10368796	33619745	101915002	259	1791											
ALOX5	240	broad.mit.edu	37	chr10	45878028	45878028	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgaatgacgactggtaccTgaagtacatcacgctgaaga	11	9	1	5			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:45878028T>C	uc001jce.2	+	2	347	c.248T>C	c.(247-249)CTG>CCG	p.L83P	ALOX5_uc009xmt.2_Missense_Mutation_p.L83P|ALOX5_uc010qfg.1_Missense_Mutation_p.L83P	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	83	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			ovary(1)|pancreas(1)	2		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GACTGGTACCTGAAGTACATC	0.577													C	45878028	T	C	45878028	3	2	2	1	0	0	0	0	1	0	0	0	540	1580	55	3	254	3	ALOX5	10	45878028	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	12258283	45878028	89656719	260	1792											
DKK1	22943	broad.mit.edu	37	chr10	54076318	54076318	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcttctccttcgtaggacaAgaaggttctgtttgtctccg	10	10	4	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:54076318A>C	uc001jjr.2	+	4	706	c.552A>C	c.(550-552)CAA>CAC	p.Q184H	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	dickkopf homolog 1 precursor	184					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						TCGTAGGACAAGAAGGTTCTG	0.413													C	54076318	A	C	54076318	3	2	2	1	0	0	0	0	1	0	0	0	4544	69	3	5	566	5	DKK1	10	54076318	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	8198290	54076318	81458429	261	1793											
PCDH15	65217	broad.mit.edu	37	chr10	55973714	55973714	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accttaataaccaaatcaaaTttctggtgaaagtctctgtt	5	8	3	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:55973714T>G	uc001jju.1	-	10	1475	c.1080A>C	c.(1078-1080)AAA>AAC	p.K360N	PCDH15_uc010qhq.1_Missense_Mutation_p.K365N|PCDH15_uc010qhr.1_Missense_Mutation_p.K360N|PCDH15_uc010qhs.1_Missense_Mutation_p.K365N|PCDH15_uc010qht.1_Missense_Mutation_p.K360N|PCDH15_uc010qhu.1_Missense_Mutation_p.K360N|PCDH15_uc001jjv.1_Missense_Mutation_p.K338N|PCDH15_uc010qhv.1_Missense_Mutation_p.K360N|PCDH15_uc010qhw.1_Missense_Mutation_p.K323N|PCDH15_uc010qhx.1_Missense_Mutation_p.K360N|PCDH15_uc010qhy.1_Missense_Mutation_p.K365N|PCDH15_uc010qhz.1_Missense_Mutation_p.K360N|PCDH15_uc010qia.1_Missense_Mutation_p.K338N|PCDH15_uc010qib.1_Missense_Mutation_p.K338N|PCDH15_uc001jjw.2_Missense_Mutation_p.K360N	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	360	Cadherin 3.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CCAAATCAAATTTCTGGTGAA	0.383										HNSCC(58;0.16)			G	55973714	T	G	55973714	3	3	2	1	0	0	0	0	1	0	0	0	11511	1490	52	5	6527	5	PCDH15	10	55973714	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	1897396	55973714	79561033	262	1794											
REEP3	221035	broad.mit.edu	37	chr10	65359005	65359005	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actttggacggcaaggtttaAaccttgcagctactgctgct	10	10	0	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:65359005A>T	uc001jmt.2	+	5	562	c.379A>T	c.(379-381)AAC>TAC	p.N127Y	REEP3_uc009xpl.1_Missense_Mutation_p.N127Y	NM_001001330	NP_001001330	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	127						integral to membrane					0	Prostate(12;0.0119)|all_hematologic(501;0.191)					GCAAGGTTTAAACCTTGCAGC	0.388													T	65359005	A	T	65359005	3	4	2	1	0	0	0	0	1	0	0	0	13206	14	1	5	397	5	REEP3	10	65359005	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	9385291	65359005	70175742	263	1795											
TET1	80312	broad.mit.edu	37	chr10	70406713	70406713	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttactaaccctacaaaaaaCctagtgtctataactaaaga	3	9	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:70406713C>T	uc001jok.3	+	4	4732	c.4227C>T	c.(4225-4227)AAC>AAT	p.N1409N		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1409					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						CTACAAAAAACCTAGTGTCTA	0.383													T	70406713	C	T	70406713	2	4	2	1	0	0	0	0	0	0	0	1	15766	506	18	4		4	TET1	10	70406713	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	5047708	70406713	65128034	264	1796											
MYST4	23522	broad.mit.edu	37	chr10	76735809	76735809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcaccacccaaacgtatgCgtcgtaaaactgaattatct	6	11	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:76735809C>T	uc001jwn.1	+	8	2207	c.1714C>T	c.(1714-1716)CGT>TGT	p.R572C	MYST4_uc001jwm.1_Intron|MYST4_uc001jwo.1_Intron|MYST4_uc001jwp.1_Intron	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	572	Negatively regulates HAT activity.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					CAAACGTATGCGTCGTAAAAC	0.453			T	CREBBP	AML								T	76735809	C	T	76735809	3	4	2	1	0	0	0	0	1	0	0	0	10105	768	27	1	1736	1	MYST4	10	76735809	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	6329096	76735809	58798938	265	1797											
KCNMA1	3778	broad.mit.edu	37	chr10	78799339	78799339	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactggagagatattctgtGtacatttcatttgagactcc	9	8	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:78799339G>A	uc001jxn.2	-	15	1983	c.1806C>T	c.(1804-1806)TAC>TAT	p.Y602Y	KCNMA1_uc001jxj.2_Silent_p.Y602Y|KCNMA1_uc001jxk.1_Silent_p.Y217Y|KCNMA1_uc009xrt.1_Silent_p.Y422Y|KCNMA1_uc001jxl.1_Silent_p.Y256Y|KCNMA1_uc001jxo.2_Silent_p.Y602Y|KCNMA1_uc001jxm.2_Silent_p.Y602Y|KCNMA1_uc001jxq.2_Silent_p.Y602Y	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	602	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GATATTCTGTGTACATTTCAT	0.423													A	78799339	G	A	78799339	2	1	2	1	0	0	0	0	0	0	0	1	8073	1372	48	4		4	KCNMA1	10	78799339	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	2063530	78799339	56735408	266	1798											
WAPAL	23063	broad.mit.edu	37	chr10	88277753	88277753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taagggtagtccgtttgttgGaaaagacttcatcgaatttt	10	5	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:88277753G>A	uc001kdo.2	-	2	516	c.74C>T	c.(73-75)TCC>TTC	p.S25F	WAPAL_uc001kdn.2_Missense_Mutation_p.S68F|WAPAL_uc009xsw.2_Missense_Mutation_p.S25F|WAPAL_uc010qmh.1_Missense_Mutation_p.S25F|WAPAL_uc010qmi.1_Missense_Mutation_p.S62F|WAPAL_uc010qmj.1_Missense_Mutation_p.S25F	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	25	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1						CCGTTTGTTGGAAAAGACTTC	0.398													A	88277753	G	A	88277753	3	1	2	1	0	0	0	0	1	0	0	0	17245	1174	41	4	3570	4	WAPAL	10	88277753	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	9478414	88277753	47256994	267	1799											
ANKRD1	27063	broad.mit.edu	37	chr10	92678659	92678659	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gattgttcttgtctgacaagAatttttctactactggcagt	8	7	3	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:92678659A>T	uc001khe.1	-	4	664	c.416T>A	c.(415-417)TTC>TAC	p.F139Y		NM_014391	NP_055206	Q15327	ANKR1_HUMAN	cardiac ankyrin repeat protein	139					cellular lipid metabolic process|defense response|signal transduction		DNA binding				0		Colorectal(252;0.0475)				GTCTGACAAGAATTTTTCTAC	0.358													T	92678659	A	T	92678659	3	4	2	1	0	0	0	0	1	0	0	0	637	246	9	5	567	5	ANKRD1	10	92678659	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	4400906	92678659	42856088	268	1800											
HECTD2	143279	broad.mit.edu	37	chr10	93221110	93221110	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagaattaaatgctgcattTaaggtaattatacataaaac	5	6	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:93221110T>G	uc001khl.2	+	4	607	c.507T>G	c.(505-507)TTT>TTG	p.F169L	LOC100188947_uc010qnl.1_Intron|HECTD2_uc001khk.2_Missense_Mutation_p.F169L|HECTD2_uc010qnm.1_Missense_Mutation_p.F169L|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_5'Flank	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing 2 isoform a	169					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			skin(1)	1						ATGCTGCATTTAAGGTAATTA	0.274													G	93221110	T	G	93221110	3	3	2	1	0	0	0	0	1	0	0	0	7040	1751	61	5	521	5	HECTD2	10	93221110	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	542451	93221110	42313637	269	1801											
PPP1R3C	5507	broad.mit.edu	37	chr10	93389733	93389733	+	Frame_Shift_Del	DEL	G	G	-													tcccccagctctgccactctGggaagagcccactagccagc							TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:93389732_93389732TG>T	uc001kho.3	-	1	1038	c.906_906CA>A	c.(904-906)ccafs	p.P302fs		NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3C (PPP1R3C), mRNA.	302							protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				TCTGCCACTCTGGGAAGAGCC	0.507													-	93389733	G	-	93389733	7	5	2	1	0	1	0	1	0	0	0	0	12373	1348	47	0	52	0	PPP1R3C	10	93389733	Frame_Shift_Del	DEL	G	TCGA-B7-5818-01A-11D-1600-08	168623	93389733	42145014	270	1802											
SORBS1	10580	broad.mit.edu	37	chr10	97158896	97158896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccaggtgaggtgggtttttCctgggttggtgctgagtcct	17	7	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:97158896C>T	uc001kkp.2	-	10	1081	c.1036G>A	c.(1036-1038)GAA>AAA	p.E346K	SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Missense_Mutation_p.E179K|SORBS1_uc001kkm.2_Missense_Mutation_p.E202K|SORBS1_uc001kko.2_Missense_Mutation_p.E346K|SORBS1_uc001kkq.2_Missense_Mutation_p.E277K|SORBS1_uc001kkr.2_Missense_Mutation_p.E182K|SORBS1_uc001kks.2_Missense_Mutation_p.E182K|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Missense_Mutation_p.E223K|SORBS1_uc001kkv.2_Missense_Mutation_p.E314K|SORBS1_uc001kkw.2_Missense_Mutation_p.E346K|SORBS1_uc010qoe.1_Missense_Mutation_p.E191K|SORBS1_uc010qof.1_Missense_Mutation_p.E544K	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	346					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GTGGGTTTTTCCTGGGTTGGT	0.473													T	97158896	C	T	97158896	3	4	2	1	0	0	0	0	1	0	0	0	14927	864	30	4	3127	4	SORBS1	10	97158896	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	3769163	97158896	38375851	271	1803											
ZNF518A	9849	broad.mit.edu	37	chr10	97918544	97918544	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcatttcaaaaacacgagaGagaaggcaaaattgttgaat	9	5	2	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:97918544G>A	uc001klp.2	+	6	3322	c.2465G>A	c.(2464-2466)AGA>AAA	p.R822K	ZNF518A_uc001klo.1_Missense_Mutation_p.R292K|ZNF518A_uc001klq.2_Missense_Mutation_p.R822K|ZNF518A_uc001klr.2_Missense_Mutation_p.R822K	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AAACACGAGAGAGAAGGCAAA	0.383													A	97918544	G	A	97918544	3	1	2	1	0	0	0	0	1	0	0	0	17959	942	33	4	2467	4	ZNF518A	10	97918544	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	759648	97918544	37616203	272	1804											
C10orf79	80217	broad.mit.edu	37	chr10	105923947	105923947	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caattccagatctaaaataaTttctcgaattcgaacatttc	3	9	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:105923947T>G	uc001kxw.2	-	24	3267	c.3151A>C	c.(3151-3153)ATT>CTT	p.I1051L	C10orf79_uc009xxq.2_Missense_Mutation_p.I359L	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	1051											0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		TCTAAAATAATTTCTCGAATT	0.383													G	105923947	T	G	105923947	3	3	2	1	0	0	0	0	1	0	0	0	1618	1493	52	5	1906	5	C10orf79	10	105923947	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	8005403	105923947	29610800	273	1805											
C10orf79	80217	broad.mit.edu	37	chr10	105927437	105927437	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctttccaattctttcagcTcttcaaccgtgcgcgctttc	5	15	5	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:105927437T>C	uc001kxw.2	-	22	2866	c.2750A>G	c.(2749-2751)GAG>GGG	p.E917G	C10orf79_uc009xxq.2_Missense_Mutation_p.E225G|C10orf79_uc001kxx.3_Missense_Mutation_p.E918G	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	917	Potential.										0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		TTCTTTCAGCTCTTCAACCGT	0.358													C	105927437	T	C	105927437	3	2	2	1	0	0	0	0	1	0	0	0	1618	1551	54	3	2315	3	C10orf79	10	105927437	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	3490	105927437	29607310	274	1806											
TDRD1	56165	broad.mit.edu	37	chr10	115947900	115947901	+	Frame_Shift_Ins	INS	-	-	A													tggctccaaaggagacaggaINSaaaaattgccagcaggtgag							TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:115947899_115947900G>GA	uc001lbg.1	+	1	462_463	c.309_310G>GA	c.(307-312)aggaaafs	p.R103fs	TDRD1_uc001lbf.3_Frame_Shift_Ins_p.R94fs|TDRD1_uc001lbh.1_Frame_Shift_Ins_p.R94fs|TDRD1_uc001lbi.1_Frame_Shift_Ins_p.R94fs	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	103					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAGGAGACAGGAAAAAATTGCC	0.431													A	115947901	-	A	115947900	7	5	2	1	0	1	1	0	0	0	0	0	15727	247	9	0	312	0	TDRD1	10	115947900	Frame_Shift_Ins	INS	-	TCGA-B7-5818-01A-11D-1600-08	10020463	115947900	19586847	275	1807											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118394392	118394392	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcaatcacctaagaagcttCgagtattactcaagcagcgt	8	10	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:118394392C>T	uc001lcq.2	+	11	884	c.861C>T	c.(859-861)TTC>TTT	p.F287F	PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA	NM_005396	NP_005387	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2	286					galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			large_intestine(1)	1				all cancers(201;0.015)		TAAGAAGCTTCGAGTATTACT	0.493													T	118394392	C	T	118394392	2	4	2	1	0	0	0	0	0	0	0	1	12151	883	31	1		1	PNLIPRP2	10	118394392	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	2446492	118394392	17140355	276	1808											
SFXN4	119559	broad.mit.edu	37	chr10	120917394	120917394	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatactcacgtaacttctgtTtccattgatgctgttgaacg	7	9	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:120917394T>G	uc001leb.2	-	8	505	c.460A>C	c.(460-462)AAC>CAC	p.N154H	SFXN4_uc001ldy.2_Missense_Mutation_p.N38H|SFXN4_uc001ldz.2_Missense_Mutation_p.N38H|SFXN4_uc001lea.2_RNA	NM_213649	NP_998814	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	154					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			ovary(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TAACTTCTGTTTCCATTGATG	0.403													G	120917394	T	G	120917394	3	3	2	1	0	0	0	0	1	0	0	0	14197	1841	64	5	581	5	SFXN4	10	120917394	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	2523002	120917394	14617353	277	1809											
SEC23IP	11196	broad.mit.edu	37	chr10	121677497	121677497	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gataaaccatctgcatgcacTctttatgagtcggaacccag	8	11	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:121677497T>A	uc001leu.1	+	9	1766	c.1694T>A	c.(1693-1695)CTC>CAC	p.L565H	SEC23IP_uc010qtc.1_Missense_Mutation_p.L354H|SEC23IP_uc009xzk.1_5'Flank	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	565					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CTGCATGCACTCTTTATGAGT	0.363													A	121677497	T	A	121677497	3	1	2	1	0	0	0	0	1	0	0	0	13993	1551	54	5	1728	5	SEC23IP	10	121677497	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	760103	121677497	13857250	278	1810											
GPR123	84435	broad.mit.edu	37	chr10	134942949	134942949	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaaattgctagaaggcctGccgtttggcaccgacgggac	14	10	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:134942949G>A	uc001llx.3	+	7	2053	c.1617G>A	c.(1615-1617)CTG>CTA	p.L539L	GPR123_uc001llw.2_Silent_p.L1258L	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	539	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TAGAAGGCCTGCCGTTTGGCA	0.622													A	134942949	G	A	134942949	2	1	2	1	0	0	0	0	0	0	0	1	6637	1306	46	2		2	GPR123	10	134942949	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	13265452	134942949	591798	279	1811											
TH	7054	broad.mit.edu	37	chr11	2186587	2186587	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaatctcaggctcctcagaCaggcagtgctggcaggaggc	14	12	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:2186587C>T	uc001lvq.2	-	13	1321	c.1302G>A	c.(1300-1302)CTG>CTA	p.L434L	TH_uc001lvp.2_Silent_p.L430L|TH_uc001lvr.2_Silent_p.L403L|TH_uc010qxj.1_Silent_p.L407L|TH_uc001lvs.2_Silent_p.L309L|TH_uc001lvt.2_Silent_p.L313L	NM_199292	NP_954986	P07101	TY3H_HUMAN	tyrosine hydroxylase isoform a	434					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity				0		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCTCCTCAGACAGGCAGTGCT	0.632													T	2186587	C	T	2186587	2	4	2	1	0	0	0	0	0	0	0	1	15835	465	17	4		4	TH	11	2186587	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08		2186587	132819929	280	1812											
UBQLN3	50613	broad.mit.edu	37	chr11	5529962	5529962	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtggcagtggcaaagggaTtgccgccaaactgctcctgg	14	10	0	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:5529962T>G	uc001may.1	-	2	913	c.827A>C	c.(826-828)AAT>ACT	p.N276T	HBG2_uc001mak.1_Intron	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	276										ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAAAGGGATTGCCGCCAAA	0.512													G	5529962	T	G	5529962	3	3	2	1	0	0	0	0	1	0	0	0	16895	1493	52	5	1144	5	UBQLN3	11	5529962	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	3343375	5529962	129476554	281	1813											
ST5	6764	broad.mit.edu	37	chr11	8715660	8715660	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcttaattcttcttgtggaGaaacttcattttgttgcctg	9	7	3	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:8715660G>A	uc001mgt.2	-	20	3583	c.3397C>T	c.(3397-3399)CTC>TTC	p.L1133F	ST5_uc009yfr.2_Missense_Mutation_p.L713F|ST5_uc001mgu.2_Missense_Mutation_p.L713F|ST5_uc001mgv.2_Missense_Mutation_p.L1133F|ST5_uc010rbp.1_Missense_Mutation_p.L646F	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	1133					positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TTCTTGTGGAGAAACTTCATT	0.547													A	8715660	G	A	8715660	3	1	2	1	0	0	0	0	1	0	0	0	15219	942	33	4	20	4	ST5	11	8715660	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	3185698	8715660	126290856	282	1814											
DENND5A	23258	broad.mit.edu	37	chr11	9165810	9165810	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatgcccttccctaaccaCcggccacacgggaacctgaa	7	18	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:9165810C>T	uc001mhl.2	-	19	3393	c.3138G>A	c.(3136-3138)CGG>CGA	p.R1046R	DENND5A_uc001mhk.2_Silent_p.R389R|DENND5A_uc010rbw.1_Silent_p.R1046R	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	1046	PLAT.									liver(1)	1						TCCCTAACCACCGGCCACACG	0.592													T	9165810	C	T	9165810	2	4	2	1	0	0	0	0	0	0	0	1	4436	494	18	4		4	DENND5A	11	9165810	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	450150	9165810	125840706	283	1815											
DENND5A	23258	broad.mit.edu	37	chr11	9182384	9182384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagctccacagcttctcggCccatcttttccaccagcatc	5	18	2	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:9182384C>T	uc001mhl.2	-	12	2567	c.2312G>A	c.(2311-2313)GGC>GAC	p.G771D	DENND5A_uc001mhk.2_Missense_Mutation_p.G114D|DENND5A_uc010rbw.1_Missense_Mutation_p.G771D|DENND5A_uc010rbx.1_RNA	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	771										liver(1)	1						AGCTTCTCGGCCCATCTTTTC	0.512													T	9182384	C	T	9182384	3	4	2	1	0	0	0	0	1	0	0	0	4436	739	26	2	1599	2	DENND5A	11	9182384	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	16574	9182384	125824132	284	1816											
USH1C	10083	broad.mit.edu	37	chr11	17546043	17546043	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagccaggtttcacatggctGataaagatgccaggcttctg	12	9	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:17546043G>A	uc001mnf.2	-	9	823	c.714C>T	c.(712-714)ATC>ATT	p.I238I	USH1C_uc001mne.2_Silent_p.I238I|USH1C_uc009yhb.2_Silent_p.I238I|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Silent_p.I202I	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	harmonin isoform a	238	PDZ 2.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			ovary(1)	1						TCACATGGCTGATAAAGATGC	0.592													A	17546043	G	A	17546043	2	1	2	1	0	0	0	0	0	0	0	1	17031	1280	45	4		4	USH1C	11	17546043	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	8363659	17546043	117460473	285	1817											
MRGPRX3	117195	broad.mit.edu	37	chr11	18158908	18158908	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgtgctctggctcctgggCtgccgcatgcgcaggaacgc	15	13	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:18158908C>A	uc001mnu.2	+	3	520	c.159C>A	c.(157-159)GGC>GGA	p.G53G		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	53	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						GGCTCCTGGGCTGCCGCATGC	0.592													A	18158908	C	A	18158908	2	1	2	1	0	0	0	0	0	0	0	1	9768	784	28	5		5	MRGPRX3	11	18158908	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	612865	18158908	116847608	286	1818											
NAV2	89797	broad.mit.edu	37	chr11	20077454	20077454	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccatgtccctggatgagaaGagcagaaccatgagccgttc	11	11	0	4			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:20077454G>A	uc010rdm.1	+	20	5212	c.4851G>A	c.(4849-4851)AAG>AAA	p.K1617K	NAV2_uc001mpp.2_Silent_p.K1530K|NAV2_uc001mpr.3_Silent_p.K1594K|NAV2_uc001mpt.2_Silent_p.K643K|NAV2_uc009yhx.2_Silent_p.K658K|NAV2_uc009yhy.1_Silent_p.K556K|NAV2_uc009yhz.2_Silent_p.K239K|NAV2_uc001mpu.2_Silent_p.K32K	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	1617	Ser-rich.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						TGGATGAGAAGAGCAGAACCA	0.433													A	20077454	G	A	20077454	2	1	2	1	0	0	0	0	0	0	0	1	10184	933	33	4		4	NAV2	11	20077454	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	1918546	20077454	114929062	287	1819											
SLC17A6	57084	broad.mit.edu	37	chr11	22399195	22399195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaacacaggccaatggagGttggcctagtggttgggaaa	14	8	0	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:22399195G>A	uc001mqk.2	+	12	2071	c.1658G>A	c.(1657-1659)GGT>GAT	p.G553D		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	553	Cytoplasmic (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						GCCAATGGAGGTTGGCCTAGT	0.388													A	22399195	G	A	22399195	3	1	2	1	0	0	0	0	1	0	0	0	14421	1261	44	4	1704	4	SLC17A6	11	22399195	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	2321741	22399195	112607321	288	1820											
KCNA4	3739	broad.mit.edu	37	chr11	30032683	30032683	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaccacagcccaccaaaAtgcatctgggatgctttgga	10	12	2	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:30032683A>T	uc001msk.2	-	2	2695	c.1543T>A	c.(1543-1545)TTT>ATT	p.F515I		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	515						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCCCACCAAAATGCATCTGGG	0.517													T	30032683	A	T	30032683	3	4	2	1	0	0	0	0	1	0	0	0	8005	101	4	5	422	5	KCNA4	11	30032683	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	7633488	30032683	104973833	289	1821											
PTPRJ	5795	broad.mit.edu	37	chr11	48145248	48145248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcaatggcaatggcactGcctcctgccgggttcttctt	12	12	2	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:48145248G>A	uc001ngp.3	+	5	1055	c.700G>A	c.(700-702)GCC>ACC	p.A234T	PTPRJ_uc001ngo.3_Missense_Mutation_p.A234T	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	234	Extracellular (Potential).|Fibronectin type-III 2.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						CAATGGCACTGCCTCCTGCCG	0.512													A	48145248	G	A	48145248	3	1	2	1	0	0	0	0	1	0	0	0	12804	1319	46	2	718	2	PTPRJ	11	48145248	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	18112565	48145248	86861268	290	1822											
OR4C12	283093	broad.mit.edu	37	chr11	50003318	50003318	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagacaactactatgatgtgAgaaatacaggtggagagggc	13	5	0	4			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:50003318A>G	uc010ria.1	-	1	720	c.720T>C	c.(718-720)TCT>TCC	p.S240S		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						CTATGATGTGAGAAATACAGG	0.398													G	50003318	A	G	50003318	2	3	2	1	0	0	0	0	0	0	0	1	11046	291	11	3		3	OR4C12	11	50003318	Silent	SNP	A	TCGA-B7-5818-01A-11D-1600-08	1858070	50003318	85003198	291	1823											
OR4S2	219431	broad.mit.edu	37	chr11	55418466	55418466	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtttgttttgtggtgttTtctttcttctacataatcat	6	5	4	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:55418466T>G	uc001nhs.1	+	1	87	c.87T>G	c.(85-87)TTT>TTG	p.F29L		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.0748)				TTGTGGTGTTTTCTTTCTTCT	0.388													G	55418466	T	G	55418466	3	3	2	1	0	0	0	0	1	0	0	0	11083	1838	64	5	89	5	OR4S2	11	55418466	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	5415148	55418466	79588050	292	1824											
OR8H3	390152	broad.mit.edu	37	chr11	55890633	55890633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttttacttacttaaagcCaagaaagtcttattccttgg	6	7	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:55890633C>T	uc001nii.1	+	1	785	c.785C>T	c.(784-786)CCA>CTA	p.P262L		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					TACTTAAAGCCAAGAAAGTCT	0.383													T	55890633	C	T	55890633	3	4	2	1	0	0	0	0	1	0	0	0	11239	594	21	4	787	4	OR8H3	11	55890633	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	472167	55890633	79115883	293	1825											
OR8H1	219469	broad.mit.edu	37	chr11	56058388	56058388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtgaagctggaggtccaGgcggattatcaatatcatcc	12	8	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:56058388G>A	uc010rje.1	-	1	151	c.151C>T	c.(151-153)CTG>TTG	p.L51L		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	51	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					TGGAGGTCCAGGCGGATTATC	0.418													A	56058388	G	A	56058388	2	1	2	1	0	0	0	0	0	0	0	1	11237	991	35	4		4	OR8H1	11	56058388	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	167755	56058388	78948128	294	1826											
OR5M9	390162	broad.mit.edu	37	chr11	56230020	56230020	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttatttctcagactgtagatCatgggattcaacataggaat	8	6	3	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:56230020C>A	uc010rjj.1	-	1	858	c.858G>T	c.(856-858)ATG>ATT	p.M286I		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					GACTGTAGATCATGGGATTCA	0.423													A	56230020	C	A	56230020	3	1	2	1	0	0	0	0	1	0	0	0	11177	826	29	5	76	5	OR5M9	11	56230020	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	171632	56230020	78776496	295	1827											
OR5M1	390168	broad.mit.edu	37	chr11	56380316	56380316	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctgaagatcgctgcaaaAatgaaaagataggacagaag	10	6	0	5			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:56380316A>C	uc001nja.1	-	1	663	c.663T>G	c.(661-663)ATT>ATG	p.I221M		NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M,	221	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						TCGCTGCAAAAATGAAAAGAT	0.448													C	56380316	A	C	56380316	3	2	2	1	0	0	0	0	1	0	0	0	11172	10	1	5	288	5	OR5M1	11	56380316	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	150296	56380316	78626200	296	1828											
FAM111B	374393	broad.mit.edu	37	chr11	58893717	58893717	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttgagacctacgatgaagAgaaaggtaaacaagagtcat	10	6	1	4			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:58893717A>G	uc001nnl.2	+	4	2390	c.2147A>G	c.(2146-2148)GAG>GGG	p.E716G	FAM111B_uc001nnm.2_Missense_Mutation_p.E686G|FAM111B_uc010rko.1_Missense_Mutation_p.E686G	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	716							catalytic activity			ovary(2)	2						TACGATGAAGAGAAAGGTAAA	0.318													G	58893717	A	G	58893717	3	3	2	1	0	0	0	0	1	0	0	0	5400	304	11	3	2153	3	FAM111B	11	58893717	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	2513401	58893717	76112799	297	1829											
MS4A12	54860	broad.mit.edu	37	chr11	60274594	60274594	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactcagctaatgcccctaaAtagtaaaagaaaaaggggta	8	7	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:60274594A>G	uc001npr.2	+	7	858	c.801A>G	c.(799-801)AAA>AAG	p.K267K		NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member	267	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						ATGCCCCTAAATAGTAAAAGA	0.383													G	60274594	A	G	60274594	2	3	2	1	0	0	0	0	0	0	0	1	9856	98	4	3		3	MS4A12	11	60274594	Silent	SNP	A	TCGA-B7-5818-01A-11D-1600-08	1380877	60274594	74731922	298	1830											
EEF1G	1937	broad.mit.edu	37	chr11	62327809	62327810	+	Frame_Shift_Del	DEL	CT	CT	-													agttcttcagggaagcgataCtctgagtaccacagggacca							TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:62327809_62327810delCT	uc001ntm.1	-	8	1120_1121	c.974_975delAG	c.(973-975)GAGfs	p.E325fs	EEF1G_uc010rlw.1_Frame_Shift_Del_p.E375fs|EEF1G_uc001ntn.1_Frame_Shift_Del_p.E205fs	NM_001404	NP_001395	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1	325	EF-1-gamma C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity				0						GGAAGCGATACTCTGAGTACCA	0.49													-	62327810	CT	-	62327809	7	5	2	1	0	1	0	1	0	0	0	0	4928	564	20	0	350	0	EEF1G	11	62327809	Frame_Shift_Del	DEL	CT	TCGA-B7-5818-01A-11D-1600-08	2053215	62327809	72678707	299	1831											
CDC42BPG	55561	broad.mit.edu	37	chr11	64606691	64606691	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtccggcgtccctactgcCactgatgaatccacctgtgg	10	14	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:64606691C>T	uc001obs.3	-	7	690	c.690G>A	c.(688-690)GTG>GTA	p.V230V		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	230	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						TCCCTACTGCCACTGATGAAT	0.622													T	64606691	C	T	64606691	2	4	2	1	0	0	0	0	0	0	0	1	3074	581	21	4		4	CDC42BPG	11	64606691	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	2278882	64606691	70399825	300	1832											
OR2AT4	341152	broad.mit.edu	37	chr11	74800405	74800405	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taggccatgaccaccaggatGaaggcttctgaacatgtaaa	10	9	1	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:74800405G>A	uc010rro.1	-	1	354	c.354C>T	c.(352-354)TTC>TTT	p.F118F		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT,	118	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CCACCAGGATGAAGGCTTCTG	0.507													A	74800405	G	A	74800405	2	1	2	1	0	0	0	0	0	0	0	1	10987	1281	45	4		4	OR2AT4	11	74800405	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	10193714	74800405	60206111	301	1833											
C11orf30	56946	broad.mit.edu	37	chr11	76239322	76239322	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctcctaggttcttattaAacccaaaccagtgacttttc	4	11	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:76239322A>C	uc001oxl.2	+	14	2149	c.2006A>C	c.(2005-2007)AAA>ACA	p.K669T	C11orf30_uc001oxm.2_Missense_Mutation_p.K585T|C11orf30_uc010rsb.1_Missense_Mutation_p.K684T|C11orf30_uc010rsc.1_Missense_Mutation_p.K684T|C11orf30_uc001oxn.2_Missense_Mutation_p.K670T|C11orf30_uc010rsd.1_Missense_Mutation_p.K683T|C11orf30_uc001oxo.1_Missense_Mutation_p.K37T|C11orf30_uc010rse.1_Missense_Mutation_p.K37T	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	669					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6						GTTCTTATTAAACCCAAACCA	0.353													C	76239322	A	C	76239322	3	2	2	1	0	0	0	0	1	0	0	0	1636	14	1	5	2056	5	C11orf30	11	76239322	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	1438917	76239322	58767194	302	1834											
C11orf30	56946	broad.mit.edu	37	chr11	76248947	76248947	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acattctcctgagagtccatCaattgctgtggtagagtcag	10	9	3	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:76248947C>T	uc001oxl.2	+	16	2611	c.2468C>T	c.(2467-2469)TCA>TTA	p.S823L	C11orf30_uc001oxm.2_Missense_Mutation_p.S739L|C11orf30_uc010rsb.1_Missense_Mutation_p.S838L|C11orf30_uc010rsc.1_Missense_Mutation_p.S838L|C11orf30_uc001oxn.2_Missense_Mutation_p.S824L|C11orf30_uc010rsd.1_Intron|C11orf30_uc001oxo.1_Missense_Mutation_p.S191L|C11orf30_uc010rse.1_Intron	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	823					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6						GAGAGTCCATCAATTGCTGTG	0.418													T	76248947	C	T	76248947	3	4	2	1	0	0	0	0	1	0	0	0	1636	838	29	4	2526	4	C11orf30	11	76248947	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	9625	76248947	58757569	303	1835											
DLG2	1740	broad.mit.edu	37	chr11	83770425	83770425	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgtcttctacgcacataCagccgaacgatagaccctgc	9	14	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:83770425C>T	uc001paj.2	-	6	840	c.537G>A	c.(535-537)CTG>CTA	p.L179L	DLG2_uc001pai.2_Silent_p.L128L|DLG2_uc010rsy.1_Silent_p.L146L|DLG2_uc010rsz.1_Silent_p.L179L|DLG2_uc010rta.1_Silent_p.L179L|DLG2_uc001pak.2_Silent_p.L284L|DLG2_uc010rtb.1_Silent_p.L146L|DLG2_uc001pal.1_Silent_p.L179L|DLG2_uc001pam.1_Silent_p.L218L	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	179	PDZ 1.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TACGCACATACAGCCGAACGA	0.448													T	83770425	C	T	83770425	2	4	2	1	0	0	0	0	0	0	0	1	4555	465	17	4		4	DLG2	11	83770425	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	7521478	83770425	51236091	304	1836											
GRM5	2915	broad.mit.edu	37	chr11	88301037	88301037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgactactggtgtatcaCggtaaatgatgaagactaca	9	7	1	4			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:88301037C>T	uc001pcq.2	-	7	2014	c.1814G>A	c.(1813-1815)CGT>CAT	p.R605H	GRM5_uc009yvm.2_Missense_Mutation_p.R605H	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	605	Cytoplasmic (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TGGTGTATCACGGTAAATGAT	0.507													T	88301037	C	T	88301037	3	4	2	1	0	0	0	0	1	0	0	0	6800	536	19	1	1836	1	GRM5	11	88301037	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	4530612	88301037	46705479	305	1837											
GRM5	2915	broad.mit.edu	37	chr11	88338027	88338027	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgcatagcctgggcagAgggacatctgcatgttgtgg	15	9	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:88338027A>G	uc001pcq.2	-	4	1453	c.1253T>C	c.(1252-1254)CTC>CCC	p.L418P	GRM5_uc009yvm.2_Missense_Mutation_p.L418P	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	418	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GCCTGGGCAGAGGGACATCTG	0.468													G	88338027	A	G	88338027	3	3	2	1	0	0	0	0	1	0	0	0	6800	304	11	3	2409	3	GRM5	11	88338027	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	36990	88338027	46668489	306	1838											
DYNC2H1	79659	broad.mit.edu	37	chr11	103104860	103104860	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagtcttaattaatcagcttGacagagaacataagagatgg	9	5	2	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:103104860G>T	uc001pho.2	+	61	9682	c.9538G>T	c.(9538-9540)GAC>TAC	p.D3180Y	DYNC2H1_uc001phn.1_Missense_Mutation_p.D3180Y|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3180	Potential.				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TAATCAGCTTGACAGAGAACA	0.403													T	103104860	G	T	103104860	3	4	2	1	0	0	0	0	1	0	0	0	4846	1290	45	5	9780	5	DYNC2H1	11	103104860	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	14766833	103104860	31901656	307	1839											
C1QTNF5	114902	broad.mit.edu	37	chr11	119210190	119210191	+	Frame_Shift_Ins	INS	-	-	C													ggctccagcctcaccatggcINScccccccgagagcgaggctg							TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:119210189_119210190G>GC	uc001pwj.2	-	14	3379_3380	c.583_584C>GC	c.(583-585)gccfs	p.A195fs		NM_015645	NP_056460	Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	147	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCTCACCATGGCCCCCCCCGAG	0.589													C	119210191	-	C	119210190	7	5	2	1	0	1	1	0	0	0	0	0	1966	739	26	0	152	0	C1QTNF5	11	119210190	Frame_Shift_Ins	INS	-	TCGA-B7-5818-01A-11D-1600-08	16105330	119210190	15796326	308	1840											
ESAM	90952	broad.mit.edu	37	chr11	124626210	124626210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcagggtcacgtttgccCccacatggggcacaccctgg	12	15	2	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:124626210C>T	uc001qav.3	-	4	673	c.500G>A	c.(499-501)GGG>GAG	p.G167E	ESAM_uc010sao.1_Intron|ESAM_uc001qau.3_Missense_Mutation_p.G94E|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_Missense_Mutation_p.G167E	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule precursor	167	Extracellular (Potential).|Ig-like C2-type.				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction					0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CACGTTTGCCCCCACATGGGG	0.587													T	124626210	C	T	124626210	3	4	2	1	0	0	0	0	1	0	0	0	5247	623	22	4	688	4	ESAM	11	124626210	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	5416020	124626210	10380306	309	1841											
WNK1	65125	broad.mit.edu	37	chr12	992681	992681	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgtggaaccagagggtgatCagggattggagagtctacaa	16	5	2	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:992681C>T	uc001qio.3	+	16	4117	c.3610C>T	c.(3610-3612)CAG>TAG	p.Q1204*	WNK1_uc001qip.3_Nonsense_Mutation_p.Q957*|WNK1_uc001qir.3_Nonsense_Mutation_p.Q377*	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1204					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AGAGGGTGATCAGGGATTGGA	0.413													T	992681	C	T	992681	4	4	2	1	0	0	0	0	0	1	0	0	17374	827	29	4	5174	4	WNK1	12	992681	Nonsense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08		992681	132859214	310	1842											
KCNA1	3736	broad.mit.edu	37	chr12	5020811	5020811	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccgcaaccggcccagcttCgacgccatcctctactacta	7	18	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:5020811C>T	uc001qnh.2	+	2	1372	c.267C>T	c.(265-267)TTC>TTT	p.F89F		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	89					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGCCCAGCTTCGACGCCATCC	0.607													T	5020811	C	T	5020811	2	4	2	1	0	0	0	0	0	0	0	1	8001	883	31	1		1	KCNA1	12	5020811	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	4028130	5020811	128831084	311	1843											
CD163L1	283316	broad.mit.edu	37	chr12	7556290	7556290	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttagcacgacgactgccaaAgacgctgaacggacatccta	9	12	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:7556290A>G	uc001qsy.2	-	6	1275	c.1249T>C	c.(1249-1251)TTT>CTT	p.F417L	CD163L1_uc010sge.1_Missense_Mutation_p.F427L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	417	SRCR 4.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						CGACTGCCAAAGACGCTGAAC	0.458													G	7556290	A	G	7556290	3	3	2	1	0	0	0	0	1	0	0	0	2968	72	3	3	3168	3	CD163L1	12	7556290	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	2535479	7556290	126295605	312	1844											
LOH12CR1	118426	broad.mit.edu	37	chr12	12514147	12514147	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actttattttcagtgactccTtcaccagccaagcatagagc	6	12	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:12514147T>G	uc001ral.2	+	2	432	c.66T>G	c.(64-66)CCT>CCG	p.P22P	LOH12CR1_uc009zhu.2_Intron	NM_058169	NP_477517	Q969J3	L12R1_HUMAN	LOH1CR12	22										ovary(1)	1		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		CAGTGACTCCTTCACCAGCCA	0.443													G	12514147	T	G	12514147	2	3	2	1	0	0	0	0	0	0	0	1	8891	1596	56	5		5	LOH12CR1	12	12514147	Silent	SNP	T	TCGA-B7-5818-01A-11D-1600-08	4957857	12514147	121337748	313	1845											
GRIN2B	2904	broad.mit.edu	37	chr12	13716421	13716421	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcactgatgtcatacaGgttgcctgctttcttgcaag	9	11	3	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:13716421G>A	uc001rbt.2	-	13	3930	c.3751C>T	c.(3751-3753)CTG>TTG	p.L1251L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1251	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGTCATACAGGTTGCCTGCT	0.602													A	13716421	G	A	13716421	2	1	2	1	0	0	0	0	0	0	0	1	6780	991	35	4		4	GRIN2B	12	13716421	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	1202274	13716421	120135474	314	1846											
GRIN2B	2904	broad.mit.edu	37	chr12	13768468	13768468	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttccattgattttcttccCatgcttgccattggtaacca	7	11	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:13768468C>A	uc001rbt.2	-	6	1638	c.1459G>T	c.(1459-1461)GGG>TGG	p.G487W		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	487	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATTTTCTTCCCATGCTTGCCA	0.383													A	13768468	C	A	13768468	3	1	2	1	0	0	0	0	1	0	0	0	6780	594	21	5	3027	5	GRIN2B	12	13768468	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	52047	13768468	120083427	315	1847											
LST-3TM12	338821	broad.mit.edu	37	chr12	21172216	21172216	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attgtatttgtaagttacttTggatctaaactacacagacc	6	7	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:21172216T>A	uc010sin.1	+	2	120	c.120T>A	c.(118-120)TTT>TTA	p.F40L	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Intron	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	40						membrane	transporter activity				0						TAAGTTACTTTGGATCTAAAC	0.323													A	21172216	T	A	21172216	3	1	2	1	0	0	0	0	1	0	0	0	9066	1809	63	5	126	5	LST-3TM12	12	21172216	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	7403748	21172216	112679679	316	1848											
LRRK2	120892	broad.mit.edu	37	chr12	40687444	40687445	+	Nonsense_Mutation	DNP	GC	GC	CT													cagcgttgctcaccaaatttGcaaagacattccaattcctt					rs72547970		TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:40687444_40687445GC>CT	uc001rmg.3	+	21	2908_2909	c.2787_2788GC>CT	c.(2785-2790)TTGCAA>TTCTAA	p.929_930LQ>F*	LRRK2_uc001rmh.1_Nonsense_Mutation_p.551_552LQ>F*|LRRK2_uc009zjw.2_5'Flank	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	929_930			Q -> R (in PARK8; could be a poymorphism).		activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CACCAAATTTGCAAAGACATTC	0.347													CT	40687445	GC	CT	40687444	4	2	2	1	0	0	0	0	0	1	0	0	9033	1310	46	5	2869	5	LRRK2	12	40687444	Nonsense_Mutation	DNP	GC	TCGA-B7-5818-01A-11D-1600-08	19515228	40687444	93164451	317	1849											
NELL2	4753	broad.mit.edu	37	chr12	44915892	44915892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttgggtcacattcagggCagcaaaaaagatcaactgtg	11	9	3	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:44915892C>T	uc001rog.2	-	18	2661	c.2066G>A	c.(2065-2067)TGC>TAC	p.C689Y	NELL2_uc001rof.3_Missense_Mutation_p.C688Y|NELL2_uc001roh.2_Missense_Mutation_p.C689Y|NELL2_uc009zkd.2_Missense_Mutation_p.C641Y|NELL2_uc010skz.1_Missense_Mutation_p.C739Y|NELL2_uc010sla.1_Missense_Mutation_p.C712Y	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	689	VWFC 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ACATTCAGGGCAGCAAAAAAG	0.433													T	44915892	C	T	44915892	3	4	2	1	0	0	0	0	1	0	0	0	10334	710	25	2	396	2	NELL2	12	44915892	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	4228448	44915892	88936003	318	1850											
KRT6A	3853	broad.mit.edu	37	chr12	52885418	52885418	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gaggttgttgatgtactgctCgaacaacggctccaggttct	12	9	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:52885418C>G	uc001sam.2	-	2	852	c.643G>C	c.(643-645)GAG>CAG	p.E215Q		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	215	Rod.|Linker 1.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)		ATGTACTGCTCGAACAACGGC	0.597													G	52885418	C	G	52885418	3	3	2	1	0	0	0	0	1	0	0	0	8480	893	31	5	1083	5	KRT6A	12	52885418	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	7969526	52885418	80966477	319	1851											
OR6C74	254783	broad.mit.edu	37	chr12	55641464	55641464	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaaacccctgcattacacCaccatcatgagcagcagagt	7	14	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:55641464C>A	uc010spg.1	+	1	393	c.393C>A	c.(391-393)ACC>ACA	p.T131T		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						TGCATTACACCACCATCATGA	0.488													A	55641464	C	A	55641464	2	1	2	1	0	0	0	0	0	0	0	1	11198	581	21	5		5	OR6C74	12	55641464	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	2756046	55641464	78210431	320	1852											
GLS2	27165	broad.mit.edu	37	chr12	56867316	56867316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgacaggcacatcattccCatgacattgggtaccaccag	10	12	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:56867316C>T	uc001slj.2	-	13	1566	c.1287G>A	c.(1285-1287)ATG>ATA	p.M429I	GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Missense_Mutation_p.M164I|GLS2_uc009zot.2_Missense_Mutation_p.M90I	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	glutaminase 2 precursor	429					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			ovary(1)|central_nervous_system(1)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACATCATTCCCATGACATTGG	0.532													T	56867316	C	T	56867316	3	4	2	1	0	0	0	0	1	0	0	0	6464	594	21	4	545	4	GLS2	12	56867316	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	1225852	56867316	76984579	321	1853											
GLIPR1L2	144321	broad.mit.edu	37	chr12	75816696	75816696	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtttgtagaggaacactgacGagaagaccttatgaaccagg	12	7	0	5			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:75816696G>A	uc001sxr.1	+	4	605	c.597G>A	c.(595-597)ACG>ACA	p.T199T	GLIPR1L2_uc001sxp.1_Silent_p.T199T|GLIPR1L2_uc001sxq.1_Silent_p.T92T	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	199						integral to membrane				ovary(1)	1						GAACACTGACGAGAAGACCTT	0.294													A	75816696	G	A	75816696	2	1	2	1	0	0	0	0	0	0	0	1	6443	1045	37	1		1	GLIPR1L2	12	75816696	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	18949380	75816696	58035199	322	1854											
MYBPC1	4604	broad.mit.edu	37	chr12	102038445	102038445	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctattctatcagcttTtgcaaaaattcttgatcctg	4	9	5	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:102038445T>C	uc001tii.2	+	10	863	c.761T>C	c.(760-762)TTT>TCT	p.F254S	MYBPC1_uc001tif.1_Missense_Mutation_p.F267S|MYBPC1_uc001tig.2_Missense_Mutation_p.F279S|MYBPC1_uc010svq.1_Missense_Mutation_p.F241S|MYBPC1_uc001tih.2_Missense_Mutation_p.F279S|MYBPC1_uc001tij.2_Missense_Mutation_p.F254S|MYBPC1_uc010svr.1_Missense_Mutation_p.F254S|MYBPC1_uc010svs.1_Missense_Mutation_p.F254S|MYBPC1_uc010svt.1_Missense_Mutation_p.F242S|MYBPC1_uc010svu.1_Missense_Mutation_p.F235S|MYBPC1_uc001tik.2_Missense_Mutation_p.F228S	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	254	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						CTATCAGCTTTTGCAAAAATT	0.348													C	102038445	T	C	102038445	3	2	2	1	0	0	0	0	1	0	0	0	10011	1841	64	3	882	3	MYBPC1	12	102038445	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	26221749	102038445	31813450	323	1855											
ASCL1	429	broad.mit.edu	37	chr12	103352558	103352558	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctgctggacgagcatgacgCggtgagcgccgccttccagg	16	13	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:103352558C>G	uc001tjr.3	+	1	1107	c.536C>G	c.(535-537)GCG>GGG	p.A179G		NM_004316	NP_004307	P50553	ASCL1_HUMAN	achaete-scute complex homolog 1	179					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0						GAGCATGACGCGGTGAGCGCC	0.647													G	103352558	C	G	103352558	3	3	2	1	0	0	0	0	1	0	0	0	1034	768	27	5	538	5	ASCL1	12	103352558	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	1314113	103352558	30499337	324	1856											
KIAA1033	23325	broad.mit.edu	37	chr12	105538520	105538520	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtaactcactacctagacaAgactttctacaatctaacaa	3	12	3	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:105538520A>G	uc001tld.2	+	22	2291	c.2204A>G	c.(2203-2205)AAG>AGG	p.K735R	KIAA1033_uc010swr.1_Missense_Mutation_p.K736R|KIAA1033_uc010sws.1_Missense_Mutation_p.K547R	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	hypothetical protein LOC23325	735					endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2						TACCTAGACAAGACTTTCTAC	0.363													G	105538520	A	G	105538520	3	3	2	1	0	0	0	0	1	0	0	0	8206	72	3	3	2290	3	KIAA1033	12	105538520	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	2185962	105538520	28313375	325	1857											
SLC24A6	80024	broad.mit.edu	37	chr12	113759073	113759074	+	Frame_Shift_Ins	INS	-	-	CCCC													cttccaggtagtccaggtacINScccccatcactgtggcagtc							TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:113759072_113759073A>ACCCC	uc001tvc.3	-	2	447_448	c.237_238T>GGGGT	c.(235-240)gggtacfs	p.G79fs	SLC24A6_uc001tvd.1_Frame_Shift_Ins_p.G79fs|SLC24A6_uc001tuz.3_5'Flank|SLC24A6_uc001tva.3_5'Flank|SLC24A6_uc001tvb.3_5'Flank	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	79					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						TAGTCCAGGTACCCCCCATCAC	0.624													CCCC	113759074	-	CCCC	113759073	7	5	2	1	0	1	1	0	0	0	0	0	14470	494	18	0	1573	0	SLC24A6	12	113759073	Frame_Shift_Ins	INS	-	TCGA-B7-5818-01A-11D-1600-08	8220553	113759073	20092822	326	1858											
TAOK3	51347	broad.mit.edu	37	chr12	118693289	118693289	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacttccatgtccaatttcAtgcaaaccaataaaaagttc	3	10	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:118693289A>C	uc001twx.2	-	3	379	c.84T>G	c.(82-84)CAT>CAG	p.H28Q	TAOK3_uc001twy.3_Missense_Mutation_p.H28Q	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	28	Protein kinase.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCCAATTTCATGCAAACCAA	0.373													C	118693289	A	C	118693289	3	2	2	1	0	0	0	0	1	0	0	0	15546	214	8	5	2688	5	TAOK3	12	118693289	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	4934216	118693289	15158606	327	1859											
TMEM132D	121256	broad.mit.edu	37	chr12	129558617	129558617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgaggtaggggatgttgGgggctcacttttctgatctt	14	5	3	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:129558617G>A	uc009zyl.1	-	9	3431	c.3103C>T	c.(3103-3105)CCA>TCA	p.P1035S	TMEM132D_uc001uia.2_Missense_Mutation_p.P573S	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	1035	Cytoplasmic (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGGGATGTTGGGGGCTCACTT	0.483													A	129558617	G	A	129558617	3	1	2	1	0	0	0	0	1	0	0	0	16044	1232	43	4	200	4	TMEM132D	12	129558617	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	10865328	129558617	4293278	328	1860											
PIWIL1	9271	broad.mit.edu	37	chr12	130845758	130845758	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaagtaatcggaaggacAaatacgatgctattaaaaaa	8	5	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:130845758A>G	uc001uik.2	+	15	1789	c.1699A>G	c.(1699-1701)AAA>GAA	p.K567E	PIWIL1_uc001uij.1_Missense_Mutation_p.K567E	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	567	RNA-binding (By similarity).|Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TCGGAAGGACAAATACGATGC	0.443													G	130845758	A	G	130845758	3	3	2	1	0	0	0	0	1	0	0	0	11957	131	5	3	1753	3	PIWIL1	12	130845758	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	1287141	130845758	3006137	329	1861											
SFRS8	6433	broad.mit.edu	37	chr12	132237891	132237891	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actagcagcggggccacctcCacaaccaccaccacaaggta	8	17	0	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:132237891C>G	uc001uja.1	+	8	1445	c.1305C>G	c.(1303-1305)TCC>TCG	p.S435S	SFRS8_uc010tbn.1_Silent_p.S435S|SFRS8_uc001ujb.1_Silent_p.S228S|SFRS8_uc001uiz.1_Silent_p.S309S	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	435	Poly-Thr.				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		GGGCCACCTCCACAACCACCA	0.647													G	132237891	C	G	132237891	2	3	2	1	0	0	0	0	0	0	0	1	14183	581	21	5		5	SFRS8	12	132237891	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	1392133	132237891	1614004	330	1862											
SACS	26278	broad.mit.edu	37	chr13	23908827	23908827	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagttgaaaccaatttctAaaaggagatgtttcagccta	7	8	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:23908827A>G	uc001uon.2	-	10	9777	c.9188T>C	c.(9187-9189)TTA>TCA	p.L3063S	SACS_uc001uoo.2_Missense_Mutation_p.L2916S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3063					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACCAATTTCTAAAAGGAGATG	0.353													G	23908827	A	G	23908827	3	3	2	1	0	0	0	0	1	0	0	0	13804	372	13	3	4555	3	SACS	13	23908827	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08		23908827	91261051	331	1863											
CENPJ	55835	broad.mit.edu	37	chr13	25457496	25457496	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattattaaactctatgagtTtgttgccatcactgtaaaat	5	7	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:25457496T>G	uc001upt.3	-	17	4089	c.3836A>C	c.(3835-3837)AAA>ACA	p.K1279T	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	1279					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTCTATGAGTTTGTTGCCATC	0.303													G	25457496	T	G	25457496	3	3	2	1	0	0	0	0	1	0	0	0	3234	1841	64	5	184	5	CENPJ	13	25457496	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	1548669	25457496	89712382	332	1864											
PAN3	255967	broad.mit.edu	37	chr13	28752031	28752031	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcacctgcttcatccttgTttaatgactttggtgccctc	6	13	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:28752031T>G	uc001urz.2	+	3	219	c.211T>G	c.(211-213)TTT>GTT	p.F71V	PAN3_uc010tdo.1_Missense_Mutation_p.F217V|PAN3_uc001ury.2_5'UTR|PAN3_uc001urx.2_Missense_Mutation_p.F71V	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	217	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TTCATCCTTGTTTAATGACTT	0.363													G	28752031	T	G	28752031	3	3	2	1	0	0	0	0	1	0	0	0	11415	1725	60	5	663	5	PAN3	13	28752031	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	3294535	28752031	86417847	333	1865											
PAN3	255967	broad.mit.edu	37	chr13	28862253	28862253	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtcatataatttcttgtctTaacaaggtaatttgtatcta	5	5	4	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:28862253T>A	uc001urz.2	+	17	2087	c.2079T>A	c.(2077-2079)CTT>CTA	p.L693L	PAN3_uc001ury.2_Silent_p.L527L|PAN3_uc001urx.2_Silent_p.L639L	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	839	Interaction with PAN2.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TTTCTTGTCTTAACAAGGTAA	0.338													A	28862253	T	A	28862253	2	1	2	1	0	0	0	0	0	0	0	1	11415	1741	61	5		5	PAN3	13	28862253	Silent	SNP	T	TCGA-B7-5818-01A-11D-1600-08	110222	28862253	86307625	334	1866											
POSTN	10631	broad.mit.edu	37	chr13	38154095	38154095	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggttgtgtcaggagctctttCaagtctgcagcttcaagtag	12	8	5	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:38154095C>T	uc001uwo.3	-	12	1681	c.1563G>A	c.(1561-1563)TTG>TTA	p.L521L	POSTN_uc010tet.1_Silent_p.L49L|POSTN_uc001uwp.3_Silent_p.L521L|POSTN_uc001uwr.2_Silent_p.L521L|POSTN_uc001uwq.2_Silent_p.L521L|POSTN_uc010teu.1_Silent_p.L521L|POSTN_uc010tev.1_Silent_p.L521L|POSTN_uc010tew.1_Silent_p.L521L|POSTN_uc010tex.1_Silent_p.L436L	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	521	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GGAGCTCTTTCAAGTCTGCAG	0.398													T	38154095	C	T	38154095	2	4	2	1	0	0	0	0	0	0	0	1	12259	825	29	4		4	POSTN	13	38154095	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	9291842	38154095	77015783	335	1867											
KCTD4	386618	broad.mit.edu	37	chr13	45768205	45768205	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaatgcgagactttattttTgatatgaaatcaggagcatt	8	5	1	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:45768205T>G	uc001uzx.3	-	2	902	c.498A>C	c.(496-498)TCA>TCC	p.S166S	GTF2F2_uc001uzv.2_Intron|GTF2F2_uc001uzw.2_Intron	NM_198404	NP_940686	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerisation domain	166						voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		ACTTTATTTTTGATATGAAAT	0.368													G	45768205	T	G	45768205	2	3	2	1	0	0	0	0	0	0	0	1	8111	1799	63	5		5	KCTD4	13	45768205	Silent	SNP	T	TCGA-B7-5818-01A-11D-1600-08	7614110	45768205	69401673	336	1868											
COG3	83548	broad.mit.edu	37	chr13	46056546	46056546	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctacattgtcggtgaatAgtgacggatttatacctatg	9	9	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:46056546A>G	uc001vak.2	+	6	756	c.655A>G	c.(655-657)AGT>GGT	p.S219G	COG3_uc010tfu.1_RNA|COG3_uc001vai.2_Missense_Mutation_p.S219G|COG3_uc001vaj.1_Missense_Mutation_p.S219G|COG3_uc010tfv.1_Missense_Mutation_p.S56G|COG3_uc010aci.2_Translation_Start_Site	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	component of golgi transport complex 3	219					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|skin(1)	2		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		GTCGGTGAATAGTGACGGATT	0.299													G	46056546	A	G	46056546	3	3	2	1	0	0	0	0	1	0	0	0	3659	420	15	3	677	3	COG3	13	46056546	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	288341	46056546	69113332	337	1869											
SPERT	220082	broad.mit.edu	37	chr13	46287419	46287419	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagccgcaggatggcgagcCagcactcctatccactgaac	11	14	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:46287419C>T	uc001van.1	+	3	339	c.259C>T	c.(259-261)CAG>TAG	p.Q87*	SPERT_uc001vao.2_Nonsense_Mutation_p.Q51*	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	87						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GATGGCGAGCCAGCACTCCTA	0.682													T	46287419	C	T	46287419	4	4	2	1	0	0	0	0	0	1	0	0	15038	595	21	4	269	4	SPERT	13	46287419	Nonsense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	230873	46287419	68882459	338	1870											
INTS6	26512	broad.mit.edu	37	chr13	51939913	51939913	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctattaatatggttgatcTgattggctcttcgatgaatt	9	5	2	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:51939913T>C	uc001vfk.2	-	18	3253	c.2639A>G	c.(2638-2640)CAG>CGG	p.Q880R	INTS6_uc001vfi.2_Missense_Mutation_p.Q564R|INTS6_uc001vfj.2_Missense_Mutation_p.Q867R|INTS6_uc001vfl.2_Missense_Mutation_p.Q702R	NM_012141	NP_036273	Q9UL03	INT6_HUMAN	integrator complex subunit 6 isoform a	880					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			ovary(1)|lung(1)	2		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		ATGGTTGATCTGATTGGCTCT	0.299													C	51939913	T	C	51939913	3	2	2	1	0	0	0	0	1	0	0	0	7782	1580	55	3	28	3	INTS6	13	51939913	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	5652494	51939913	63229965	339	1871											
PCDH17	27253	broad.mit.edu	37	chr13	58207479	58207479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtcatcgatctgaacGccaccgacgccgatgaaggt	12	12	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:58207479G>A	uc001vhq.1	+	1	1691	c.799G>A	c.(799-801)GCC>ACC	p.A267T	PCDH17_uc010aec.1_Missense_Mutation_p.A267T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	267	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGATCTGAACGCCACCGACGC	0.592													A	58207479	G	A	58207479	3	1	2	1	0	0	0	0	1	0	0	0	11512	1087	38	1	801	1	PCDH17	13	58207479	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	6267566	58207479	56962399	340	1872											
PCDH20	64881	broad.mit.edu	37	chr13	61985441	61985441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcaatttttcctttcagtgGaatctgtacttccaaatttt	5	8	3	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:61985441G>A	uc001vid.3	-	2	3155	c.2791C>T	c.(2791-2793)CCA>TCA	p.P931S	PCDH20_uc010thj.1_Missense_Mutation_p.P931S	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	904	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CCTTTCAGTGGAATCTGTACT	0.383													A	61985441	G	A	61985441	3	1	2	1	0	0	0	0	1	0	0	0	11515	1174	41	4	68	4	PCDH20	13	61985441	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	3777962	61985441	53184437	341	1873											
KLHL1	57626	broad.mit.edu	37	chr13	70370969	70370969	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caatgtctttaagccatctcGacctccaattacaaagagtt	5	11	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:70370969G>A	uc001vip.2	-	7	2334	c.1540C>T	c.(1540-1542)CGA>TGA	p.R514*	KLHL1_uc010thm.1_Nonsense_Mutation_p.R453*	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	514	Kelch 2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AAGCCATCTCGACCTCCAATT	0.438													A	70370969	G	A	70370969	4	1	2	1	0	0	0	0	0	1	0	0	8365	1066	37	1	726	1	KLHL1	13	70370969	Nonsense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	8385528	70370969	44798909	342	1874											
C13orf37	440145	broad.mit.edu	37	chr13	73293091	73293091	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actaataggaatctccaaccTtcagtgcttcagtagccttg	7	11	3	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:73293091T>G	uc001viu.2	-	2	422	c.224A>C	c.(223-225)AAG>ACG	p.K75T		NM_001071775	NP_001065243	Q08AG7	MZT1_HUMAN	hypothetical protein LOC440145	75					gamma-tubulin complex localization	centrosome|gamma-tubulin ring complex|spindle	protein binding				0						ATCTCCAACCTTCAGTGCTTC	0.353													G	73293091	T	G	73293091	3	3	2	1	0	0	0	0	1	0	0	0	1731	1623	56	5	32	5	C13orf37	13	73293091	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	2922122	73293091	41876787	343	1875											
MYCBP2	23077	broad.mit.edu	37	chr13	77745688	77745688	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgaacgacagtgcttacaacAgacaatgctctgctacagtt	8	11	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:77745688A>T	uc001vkf.2	-	39	5710	c.5619T>A	c.(5617-5619)TCT>TCA	p.S1873S	MYCBP2_uc010aev.2_Silent_p.S1277S	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGCTTACAACAGACAATGCTC	0.398													T	77745688	A	T	77745688	2	4	2	1	0	0	0	0	0	0	0	1	10018	175	7	5		5	MYCBP2	13	77745688	Silent	SNP	A	TCGA-B7-5818-01A-11D-1600-08	4452597	77745688	37424190	344	1876											
DZIP1	22873	broad.mit.edu	37	chr13	96285518	96285518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttcttcagtgtggcggcGttgaatgtgactttgtagaa	12	5	2	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:96285518G>A	uc001vmk.2	-	6	1507	c.655C>T	c.(655-657)CGC>TGC	p.R219C	DZIP1_uc001vml.2_Missense_Mutation_p.R219C|DZIP1_uc001vmn.2_Missense_Mutation_p.R208C	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	219	C2H2-type.				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GTGTGGCGGCGTTGAATGTGA	0.408													A	96285518	G	A	96285518	3	1	2	1	0	0	0	0	1	0	0	0	4863	1145	40	1	2020	1	DZIP1	13	96285518	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	18539830	96285518	18884360	345	1877											
GPR183	1880	broad.mit.edu	37	chr13	99948218	99948218	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggtggtagagttgatttttTtcctgttttgaacaatgacg	12	4	0	4			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:99948218T>A	uc001vog.2	-	2	356	c.182A>T	c.(181-183)AAA>ATA	p.K61I	UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron	NM_004951	NP_004942	P32249	GP183_HUMAN	EBV-induced G protein-coupled receptor 2	61	Cytoplasmic (Potential).				humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0						GTTGATTTTTTTCCTGTTTTG	0.438													A	99948218	T	A	99948218	3	1	2	1	0	0	0	0	1	0	0	0	6678	1841	64	5	907	5	GPR183	13	99948218	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	3662700	99948218	15221660	346	1878											
FGF14	2259	broad.mit.edu	37	chr13	102379009	102379009	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggtttggttttctttActctgttccctttcatagct	7	10	3	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:102379009A>C	uc001vpe.2	-	4	560	c.560T>G	c.(559-561)GTA>GGA	p.V187G	FGF14_uc001vpf.2_Missense_Mutation_p.V192G	NM_004115	NP_004106	Q92915	FGF14_HUMAN	fibroblast growth factor 14 isoform 1A	187					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			ovary(2)|lung(1)|large_intestine(1)	4	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGTTTTCTTTACTCTGTTCCC	0.358													C	102379009	A	C	102379009	3	2	2	1	0	0	0	0	1	0	0	0	5843	391	14	5	191	5	FGF14	13	102379009	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	2430791	102379009	12790869	347	1879											
ARHGEF7	8874	broad.mit.edu	37	chr13	111933004	111933004	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaaccccaccataaagcctCattcagtgccatctcatacc	4	16	3	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:111933004C>T	uc001vrs.2	+	16	2018	c.1768C>T	c.(1768-1770)CAT>TAT	p.H590Y	ARHGEF7_uc001vrr.2_Missense_Mutation_p.H569Y|ARHGEF7_uc001vrt.2_Missense_Mutation_p.H540Y|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Missense_Mutation_p.H412Y|ARHGEF7_uc001vrv.3_Missense_Mutation_p.H412Y|ARHGEF7_uc001vrw.3_Missense_Mutation_p.H412Y|ARHGEF7_uc001vrx.3_Missense_Mutation_p.H412Y|ARHGEF7_uc010tjo.1_Missense_Mutation_p.H487Y|ARHGEF7_uc010tjp.1_Missense_Mutation_p.H334Y|ARHGEF7_uc001vry.1_5'Flank	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	590					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CATAAAGCCTCATTCAGTGCC	0.537													T	111933004	C	T	111933004	3	4	2	1	0	0	0	0	1	0	0	0	911	826	29	4	1830	4	ARHGEF7	13	111933004	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	9553995	111933004	3236874	348	1880											
RASA3	22821	broad.mit.edu	37	chr13	114786883	114786883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaacatcatcttaccacGcctcgtaggagctggactgc	10	13	2	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:114786883G>A	uc001vui.2	-	9	913	c.782C>T	c.(781-783)GCG>GTG	p.A261V	RASA3_uc010tkk.1_Missense_Mutation_p.A229V|RASA3_uc001vuj.2_5'UTR|RASA3_uc010tkl.1_RNA|RASA3_uc010aha.1_RNA	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	261					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			ATCTTACCACGCCTCGTAGGA	0.532													A	114786883	G	A	114786883	3	1	2	1	0	0	0	0	1	0	0	0	13062	1087	38	1	1786	1	RASA3	13	114786883	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	2853879	114786883	382995	349	1881											
ACIN1	22985	broad.mit.edu	37	chr14	23559303	23559303	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctcgtcctccgactcagcTgaagcttctgcaaagtacag	8	13	3	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:23559303T>G	uc001wit.3	-	4	826	c.498A>C	c.(496-498)TCA>TCC	p.S166S	ACIN1_uc010akg.2_Silent_p.S166S|ACIN1_uc010tnj.1_Intron	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	166	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CCGACTCAGCTGAAGCTTCTG	0.562													G	23559303	T	G	23559303	2	3	2	1	0	0	0	0	0	0	0	1	142	1567	55	5		5	ACIN1	14	23559303	Silent	SNP	T	TCGA-B7-5818-01A-11D-1600-08		23559303	83790237	350	1882											
NUBPL	80224	broad.mit.edu	37	chr14	32315787	32315787	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagcacagacccttggtctTgaagttctaggtaagactgt	10	9	2	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:32315787T>G	uc001wrk.3	+	9	859	c.804T>G	c.(802-804)CTT>CTG	p.L268L	NUBPL_uc010amj.2_RNA|NUBPL_uc010tpl.1_Silent_p.L172L	NM_025152	NP_079428	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	268					mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding				0	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		CCCTTGGTCTTGAAGTTCTAG	0.398													G	32315787	T	G	32315787	2	3	2	1	0	0	0	0	0	0	0	1	10717	1799	63	5		5	NUBPL	14	32315787	Silent	SNP	T	TCGA-B7-5818-01A-11D-1600-08	8756484	32315787	75033753	351	1883											
KLHL28	54813	broad.mit.edu	37	chr14	45414826	45414826	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagagattcaactgtgtcCtgagaaataaaaacagtccc	9	8	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:45414826C>T	uc001wvq.2	-	2	552	c.306G>A	c.(304-306)CAG>CAA	p.Q102Q	KLHL28_uc001wvr.2_Silent_p.Q102Q|KLHL28_uc001wvt.3_Silent_p.Q102Q	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	102	BTB.									ovary(1)	1						CAACTGTGTCCTGAGAAATAA	0.423													T	45414826	C	T	45414826	2	4	2	1	0	0	0	0	0	0	0	1	8382	680	24	4		4	KLHL28	14	45414826	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	13099039	45414826	61934714	352	1884											
DDHD1	80821	broad.mit.edu	37	chr14	53525293	53525293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcctgggcggatgccacGcaacgccaagaaaactgcta	10	12	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:53525293G>A	uc001xai.2	-	9	2124	c.1894C>T	c.(1894-1896)CGT>TGT	p.R632C	DDHD1_uc001xaj.2_Missense_Mutation_p.R639C|DDHD1_uc001xah.2_Missense_Mutation_p.R632C|DDHD1_uc001xag.2_Missense_Mutation_p.R214C|DDHD1_uc001xak.1_Missense_Mutation_p.R28C	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	632	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)					CGGATGCCACGCAACGCCAAG	0.383													A	53525293	G	A	53525293	3	1	2	1	0	0	0	0	1	0	0	0	4326	1087	38	1	828	1	DDHD1	14	53525293	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	8110467	53525293	53824247	353	1885											
C14orf37	145407	broad.mit.edu	37	chr14	58598379	58598379	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattattccaggaggtgtcActggagatcccagaactggt	11	10	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:58598379A>C	uc001xdc.2	-	4	1793	c.1682T>G	c.(1681-1683)GTG>GGG	p.V561G	C14orf37_uc010tro.1_Missense_Mutation_p.V599G|C14orf37_uc001xdd.2_Missense_Mutation_p.V561G|C14orf37_uc001xde.2_Missense_Mutation_p.V561G	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	hypothetical protein LOC145407 precursor	561	Extracellular (Potential).					integral to membrane	binding				0						AGGAGGTGTCACTGGAGATCC	0.488													C	58598379	A	C	58598379	3	2	2	1	0	0	0	0	1	0	0	0	1771	159	6	5	662	5	C14orf37	14	58598379	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	5073086	58598379	48751161	354	1886											
DHRS7	51635	broad.mit.edu	37	chr14	60622819	60622819	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaagccagctcctcaccaAttccactcgaggctccagtc	8	16	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:60622819A>C	uc001xes.2	-	2	369	c.185T>G	c.(184-186)ATT>AGT	p.I62S	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Missense_Mutation_p.I12S|DHRS7_uc001xeu.2_Missense_Mutation_p.I62S	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	62	NAD (By similarity).						binding|oxidoreductase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.121)		CTCCTCACCAATTCCACTCGA	0.463													C	60622819	A	C	60622819	3	2	2	1	0	0	0	0	1	0	0	0	4495	101	4	5	858	5	DHRS7	14	60622819	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	2024440	60622819	46726721	355	1887											
SIX6	4990	broad.mit.edu	37	chr14	60976600	60976600	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaaaaaacgtgagctcGcccaggcaaccggactgacc	10	15	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:60976600G>T	uc001xfa.3	+	1	663	c.484G>T	c.(484-486)GCC>TCC	p.A162S		NM_007374	NP_031400	O95475	SIX6_HUMAN	SIX homeobox 6	162	Homeobox.				organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.088)		ACGTGAGCTCGCCCAGGCAAC	0.597													T	60976600	G	T	60976600	3	4	2	1	0	0	0	0	1	0	0	0	14351	1087	38	5	486	5	SIX6	14	60976600	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	353781	60976600	46372940	356	1888											
HIF1A	3091	broad.mit.edu	37	chr14	62204985	62204985	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatcaagaagttgcattaaAattagaaccaaatccagagt	6	7	1	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:62204985A>C	uc001xfq.2	+	10	1834	c.1430A>C	c.(1429-1431)AAA>ACA	p.K477T	HIF1A_uc001xfr.2_Missense_Mutation_p.K477T|HIF1A_uc001xfs.2_Missense_Mutation_p.K478T	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	hypoxia-inducible factor 1, alpha subunit	477	ODD.			K->R: Abolishes 1 sumoylation. Abolishes 2 sumoylations; when associated with R- 391. No change in HIF1A protein turnover rate but increased transcriptional activity; when associated with R-377; R- 391 and R-532.	cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			kidney(3)|lung(1)	4				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		GTTGCATTAAAATTAGAACCA	0.438													C	62204985	A	C	62204985	3	2	2	1	0	0	0	0	1	0	0	0	7103	14	1	5	1468	5	HIF1A	14	62204985	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	1228385	62204985	45144555	357	1889											
SYNE2	23224	broad.mit.edu	37	chr14	64375920	64375920	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaacagggttcctggggcatCgacgatctccatatttcatt	10	10	2	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:64375920C>T	uc001xgm.2	+	2	284	c.54C>T	c.(52-54)ATC>ATT	p.I18I	SYNE2_uc001xgk.2_Silent_p.I18I|SYNE2_uc001xgl.2_Silent_p.I18I	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	18	Cytoplasmic (Potential).|Actin-binding.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCTGGGGCATCGACGATCTCC	0.443													T	64375920	C	T	64375920	2	4	2	1	0	0	0	0	0	0	0	1	15443	874	31	1		1	SYNE2	14	64375920	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	2170935	64375920	42973620	358	1890											
PLEKHG3	26030	broad.mit.edu	37	chr14	65208090	65208090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttctctcggcggagcagcGtggcacaggaggacagcaag	16	11	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:65208090G>A	uc001xho.1	+	16	2124	c.1855G>A	c.(1855-1857)GTG>ATG	p.V619M	PLEKHG3_uc001xhn.1_Missense_Mutation_p.V563M|PLEKHG3_uc001xhp.2_Missense_Mutation_p.V740M|PLEKHG3_uc010aqh.1_Missense_Mutation_p.V161M|PLEKHG3_uc001xhq.1_Missense_Mutation_p.V124M	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	619					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCGGAGCAGCGTGGCACAGGA	0.672													A	65208090	G	A	65208090	3	1	2	1	0	0	0	0	1	0	0	0	12070	1145	40	1	1737	1	PLEKHG3	14	65208090	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	832170	65208090	42141450	359	1891											
VTI1B	10490	broad.mit.edu	37	chr14	68123178	68123178	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcgttgttcccccagctcTtctatgatttctgagccaat	6	13	4	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:68123178T>C	uc001xjt.2	-	4	891	c.495A>G	c.(493-495)GAA>GAG	p.E165E	VTI1B_uc010aqp.2_Silent_p.E104E|VTI1B_uc001xju.2_Silent_p.E124E	NM_006370	NP_006361	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with	165	Potential.|Cytoplasmic (Potential).				cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane					0				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		CCCCCAGCTCTTCTATGATTT	0.517													C	68123178	T	C	68123178	2	2	2	1	0	0	0	0	0	0	0	1	17233	1606	56	3		3	VTI1B	14	68123178	Silent	SNP	T	TCGA-B7-5818-01A-11D-1600-08	2915088	68123178	39226362	360	1892											
MAP3K9	4293	broad.mit.edu	37	chr14	71215717	71215717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtggggatcaggattccaGcagtctgaatagaacatgtg	14	6	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:71215717G>A	uc001xmm.2	-	5	1155	c.1155C>T	c.(1153-1155)TGC>TGT	p.C385C	MAP3K9_uc010ttk.1_Silent_p.C122C|MAP3K9_uc001xmk.2_Silent_p.C79C|MAP3K9_uc001xml.2_Silent_p.C385C	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	385	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CAGGATTCCAGCAGTCTGAAT	0.448													A	71215717	G	A	71215717	2	1	2	1	0	0	0	0	0	0	0	1	9257	963	34	2		2	MAP3K9	14	71215717	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	3092539	71215717	36133823	361	1893											
TMEM63C	57156	broad.mit.edu	37	chr14	77705999	77705999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaaggccaagaagactgGgaaggtgatgatcaggatcc	14	8	1	4			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:77705999G>A	uc001xtf.2	+	12	1072	c.860G>A	c.(859-861)GGG>GAG	p.G287E	TMEM63C_uc010asq.1_Missense_Mutation_p.G287E	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	287						integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		AAGAAGACTGGGAAGGTGATG	0.612													A	77705999	G	A	77705999	3	1	2	1	0	0	0	0	1	0	0	0	16189	1232	43	4	898	4	TMEM63C	14	77705999	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	6490282	77705999	29643541	362	1894											
SEL1L	6400	broad.mit.edu	37	chr14	81972546	81972546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaagaaaagggaagtggCagggctccccatgtgctgtg	16	7	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:81972546C>T	uc010tvv.1	-	4	497	c.380G>A	c.(379-381)TGC>TAC	p.C127Y	SEL1L_uc001xvo.3_Missense_Mutation_p.C127Y	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	127	Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Fibronectin type-II.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)		AGGGAAGTGGCAGGGCTCCCC	0.433													T	81972546	C	T	81972546	3	4	2	1	0	0	0	0	1	0	0	0	14010	710	25	2	2076	2	SEL1L	14	81972546	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	4266547	81972546	25376994	363	1895											
ATG2B	55102	broad.mit.edu	37	chr14	96798979	96798979	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccatatcagccatggagaaGaatacttcttcttctagaga	7	9	4	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:96798979G>A	uc001yfi.2	-	9	1586	c.1221C>T	c.(1219-1221)TTC>TTT	p.F407F		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	407										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CCATGGAGAAGAATACTTCTT	0.373													A	96798979	G	A	96798979	2	1	2	1	0	0	0	0	0	0	0	1	1094	933	33	4		4	ATG2B	14	96798979	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	14826433	96798979	10550561	364	1896											
BCL11B	64919	broad.mit.edu	37	chr14	99723822	99723822	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatacctgcaatgttctccTgcttgggacagatgcctttc	8	13	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:99723822T>G	uc001yga.2	-	2	680	c.413A>C	c.(412-414)CAG>CCG	p.Q138P	BCL11B_uc001ygb.2_Missense_Mutation_p.Q138P	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	138						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		AATGTTCTCCTGCTTGGGACA	0.602			T	TLX3	T-ALL								G	99723822	T	G	99723822	3	3	2	1	0	0	0	0	1	0	0	0	1364	1580	55	5	2283	5	BCL11B	14	99723822	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	2924843	99723822	7625718	365	1897											
NIPA1	123606	broad.mit.edu	37	chr15	23052723	23052723	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttgcccaagatgttgagcTtttccttcaggagataggaa	10	8	1	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:23052723T>A	uc001yvc.2	-	4	375	c.350A>T	c.(349-351)AAG>ATG	p.K117M	NIPA1_uc001yvd.2_Translation_Start_Site|NIPA1_uc001yve.2_Missense_Mutation_p.K42M	NM_144599	NP_653200	Q7RTP0	NIPA1_HUMAN	non-imprinted in Prader-Willi/Angelman syndrome	117	Cytoplasmic (Potential).				cell death	early endosome|integral to membrane|plasma membrane					0		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		GATGTTGAGCTTTTCCTTCAG	0.438													A	23052723	T	A	23052723	3	1	2	1	0	0	0	0	1	0	0	0	10422	1609	56	5	647	5	NIPA1	15	23052723	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08		23052723	79478669	366	1898											
FMN1	342184	broad.mit.edu	37	chr15	33359769	33359769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcttcttttctctgacttCcctctgattctgtctccacg	5	15	5	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:33359769C>T	uc001zhf.3	-	1	317	c.317G>A	c.(316-318)GGA>GAA	p.G106E	FMN1_uc001zhg.2_Missense_Mutation_p.G106E	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	Error:Variant_position_missing_in_Q68DA7_after_alignment					actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCTCTGACTTCCCTCTGATTC	0.488													T	33359769	C	T	33359769	3	4	2	1	0	0	0	0	1	0	0	0	5949	855	30	4	3341	4	FMN1	15	33359769	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	10307046	33359769	69171623	367	1899											
RYR3	6263	broad.mit.edu	37	chr15	34080453	34080453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatcagcaaagccaggccCgacctgctgagaagccactt	9	14	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:34080453C>T	uc001zhi.2	+	67	9694	c.9624C>T	c.(9622-9624)CCC>CCT	p.P3208P	RYR3_uc010bar.2_Silent_p.P3208P	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3208					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGCCAGGCCCGACCTGCTGA	0.498													T	34080453	C	T	34080453	2	4	2	1	0	0	0	0	0	0	0	1	13770	639	23	1		1	RYR3	15	34080453	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	720684	34080453	68450939	368	1900											
MGA	23269	broad.mit.edu	37	chr15	42035185	42035185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggcttcagttgcttttcCtaagtctttggtagcatctc	9	9	3	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:42035185C>T	uc010ucy.1	+	15	5208	c.5027C>T	c.(5026-5028)CCT>CTT	p.P1676L	MGA_uc010ucz.1_Intron|MGA_uc010uda.1_Missense_Mutation_p.P292L	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	1676	Thr-rich.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTTGCTTTTCCTAAGTCTTTG	0.483													T	42035185	C	T	42035185	3	4	2	1	0	0	0	0	1	0	0	0	9540	681	24	4	5081	4	MGA	15	42035185	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	7954732	42035185	60496207	369	1901											
SECISBP2L	9728	broad.mit.edu	37	chr15	49303937	49303937	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagctccttaccttcctgggAaacaatctcctgtggcaagt	9	12	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:49303937A>T	uc001zxe.1	-	13	1989	c.1855T>A	c.(1855-1857)TCC>ACC	p.S619T	SECISBP2L_uc001zxd.1_Missense_Mutation_p.S574T|SECISBP2L_uc010bep.1_Missense_Mutation_p.S381T	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	619										breast(1)|skin(1)	2						CCTTCCTGGGAAACAATCTCC	0.423													T	49303937	A	T	49303937	3	4	2	1	0	0	0	0	1	0	0	0	14007	246	9	5	1474	5	SECISBP2L	15	49303937	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	7268752	49303937	53227455	370	1902											
PIGB	9488	broad.mit.edu	37	chr15	55643036	55643036	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgagtcatattcaaaaagtTtgttacaacaatcccaataa	4	7	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:55643036T>A	uc002act.2	+	10	1579	c.1263T>A	c.(1261-1263)GTT>GTA	p.V421V	PIGB_uc010ugg.1_Silent_p.V226V	NM_004855	NP_004846	Q92521	PIGB_HUMAN	phosphatidylinositol glycan, class B	421					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity				0				all cancers(107;0.0255)		TTCAAAAAGTTTGTTACAACA	0.338													A	55643036	T	A	55643036	2	1	2	1	0	0	0	0	0	0	0	1	11885	1828	64	5		5	PIGB	15	55643036	Silent	SNP	T	TCGA-B7-5818-01A-11D-1600-08	6339099	55643036	46888356	371	1903											
MNS1	55329	broad.mit.edu	37	chr15	56736697	56736697	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaatcatgagtttctcttTtagcagctgctcataagctt	6	9	4	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:56736697T>G	uc002adr.2	-	5	796	c.631A>C	c.(631-633)AAA>CAA	p.K211Q	MNS1_uc010bfo.2_Missense_Mutation_p.K79Q|TEX9_uc002adp.2_Intron|TEX9_uc010ugl.1_Intron	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	211	Potential.|Glu-rich.				meiosis					ovary(1)	1				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		AGTTTCTCTTTTAGCAGCTGC	0.328													G	56736697	T	G	56736697	3	3	2	1	0	0	0	0	1	0	0	0	9677	1850	64	5	880	5	MNS1	15	56736697	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	1093661	56736697	45794695	372	1904											
LCTL	197021	broad.mit.edu	37	chr15	66845441	66845441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgatcgttctggtagctggGcccctggcgggaggggtagt	18	9	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:66845441G>A	uc002aqc.2	-	9	1210	c.1078C>T	c.(1078-1080)CCC>TCC	p.P360S	LCTL_uc002aqd.3_Missense_Mutation_p.P187S|LCTL_uc010bhw.2_Missense_Mutation_p.P58S	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	lactase-like precursor	360	Extracellular (Potential).				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(2)	2						TGGTAGCTGGGCCCCTGGCGG	0.502													A	66845441	G	A	66845441	3	1	2	1	0	0	0	0	1	0	0	0	8694	1203	42	2	645	2	LCTL	15	66845441	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	10108744	66845441	35685951	373	1905											
MYO9A	4649	broad.mit.edu	37	chr15	72196349	72196349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtgtatcgaagctgtctaAgtaccaagacatcactgaac	9	10	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:72196349A>G	uc002atl.3	-	21	3271	c.2798T>C	c.(2797-2799)CTT>CCT	p.L933P	MYO9A_uc010biq.2_Missense_Mutation_p.L553P|MYO9A_uc002atn.1_Missense_Mutation_p.L914P	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	933	Myosin head-like 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						AAGCTGTCTAAGTACCAAGAC	0.378													G	72196349	A	G	72196349	3	3	2	1	0	0	0	0	1	0	0	0	10084	72	3	3	4936	3	MYO9A	15	72196349	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	5350908	72196349	30335043	374	1906											
KIAA1199	57214	broad.mit.edu	37	chr15	81241151	81241151	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttcagagcaaatggcattCgttggcttcaaaggcagctt	10	8	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:81241151C>T	uc002bfw.1	+	29	4232	c.3972C>T	c.(3970-3972)TTC>TTT	p.F1324F	KIAA1199_uc010unn.1_Silent_p.F1324F|MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	1324										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						AAATGGCATTCGTTGGCTTCA	0.552													T	81241151	C	T	81241151	2	4	2	1	0	0	0	0	0	0	0	1	8213	883	31	1		1	KIAA1199	15	81241151	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	9044802	81241151	21290241	375	1907											
ZSCAN2	54993	broad.mit.edu	37	chr15	85164607	85164607	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccctacaaatgtaccgActgtgggcagaggttcagcc	11	11	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:85164607A>C	uc002bkr.2	+	3	1407	c.1181A>C	c.(1180-1182)GAC>GCC	p.D394A	ZSCAN2_uc010bmz.1_Missense_Mutation_p.D392A|ZSCAN2_uc010bna.2_Missense_Mutation_p.D244A|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	394	C2H2-type 7.				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		AAATGTACCGACTGTGGGCAG	0.507													C	85164607	A	C	85164607	3	2	2	1	0	0	0	0	1	0	0	0	18228	275	10	5	1277	5	ZSCAN2	15	85164607	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	3923456	85164607	17366785	376	1908											
C15orf58	390637	broad.mit.edu	37	chr15	90784820	90784820	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggctattacctggcccacaGactgcccgtggagcaggcgc	13	14	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:90784820G>A	uc002bpc.2	+	4	859	c.680G>A	c.(679-681)AGA>AAA	p.R227K		NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	hypothetical protein LOC390637	227					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity				0						CTGGCCCACAGACTGCCCGTG	0.627													A	90784820	G	A	90784820	3	1	2	1	0	0	0	0	1	0	0	0	1806	942	33	4	682	4	C15orf58	15	90784820	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	5620213	90784820	11746572	377	1909											
IQGAP1	8826	broad.mit.edu	37	chr15	90997755	90997755	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcttgcgtggaccatgTgaacctggtggtgcaagagg	15	9	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:90997755T>G	uc002bpl.1	+	14	1684	c.1583T>G	c.(1582-1584)GTG>GGG	p.V528G		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	528					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GTGGACCATGTGAACCTGGTG	0.433													G	90997755	T	G	90997755	3	3	2	1	0	0	0	0	1	0	0	0	7814	1696	59	5	1637	5	IQGAP1	15	90997755	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	212935	90997755	11533637	378	1910											
ASB7	140460	broad.mit.edu	37	chr15	101170069	101170069	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttgggtcgcttagaagaCggacagactcctttacactt	9	10	0	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:101170069C>T	uc002bwk.2	+	5	1408	c.639C>T	c.(637-639)GAC>GAT	p.D213D	ASB7_uc002bwj.2_Silent_p.D213D	NM_198243	NP_937886	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box-containing protein 7	213	ANK 7.				intracellular signal transduction					skin(1)	1	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			GCTTAGAAGACGGACAGACTC	0.468													T	101170069	C	T	101170069	2	4	2	1	0	0	0	0	0	0	0	1	1028	535	19	1		1	ASB7	15	101170069	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	10172314	101170069	1361323	379	1911											
EME2	197342	broad.mit.edu	37	chr16	1825336	1825336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcgccagcacgtttcccGggggacacagcagccagaga	13	14	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:1825336G>A	uc002cmq.1	+	5	722	c.722G>A	c.(721-723)CGG>CAG	p.R241Q	MRPS34_uc002cmn.2_5'Flank|MRPS34_uc002cmo.2_5'Flank|MRPS34_uc002cmp.1_5'Flank|EME2_uc010brw.1_Missense_Mutation_p.R197Q	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	essential meiotic endonuclease 1 homolog 2	197					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			lung(1)|central_nervous_system(1)|pancreas(1)	3						CACGTTTCCCGGGGGACACAG	0.692								Direct_reversal_of_damage|Homologous_recombination					A	1825336	G	A	1825336	3	1	2	1	0	0	0	0	1	0	0	0	5089	1116	39	1	740	1	EME2	16	1825336	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08		1825336	88529417	380	1912											
SEPX1	51734	broad.mit.edu	37	chr16	1990794	1990794	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctttagggacaaactTcagcgagctgctgaatattc	8	11	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:1990794T>G	uc010uvs.1	-	4	441	c.304A>C	c.(304-306)AAG>CAG	p.K102Q		NM_016332	NP_057416	Q9NZV6	MSRB1_HUMAN	selenoprotein X, 1	102					protein repair	cytoplasm|nucleus	peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding			ovary(1)	1					L-Methionine(DB00134)	GGGACAAACTTCAGCGAGCTG	0.592													G	1990794	T	G	1990794	3	3	2	1	0	0	0	0	1	0	0	0	14073	1792	62	5	54	5	SEPX1	16	1990794	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	165458	1990794	88363959	381	1913											
SMG1	23049	broad.mit.edu	37	chr16	18844380	18844380	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aacgccatcggtggtctgctCaataagaccgtccagttcat	9	12	3	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:18844380C>G	uc002dfm.2	-	51	9037	c.8674G>C	c.(8674-8676)GAG>CAG	p.E2892Q	SMG1_uc010bwb.2_Missense_Mutation_p.E2752Q|SMG1_uc010bwa.2_Missense_Mutation_p.E1623Q	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2892					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						GTGGTCTGCTCAATAAGACCG	0.453													G	18844380	C	G	18844380	3	3	2	1	0	0	0	0	1	0	0	0	14795	835	29	5	2363	5	SMG1	16	18844380	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	16853586	18844380	71510373	382	1914											
ACSM2A	123876	broad.mit.edu	37	chr16	20480970	20480970	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtggcatctgaatgtccTtctctgagaattaagctact	8	9	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:20480970T>G	uc010bwe.2	+	5	764	c.525T>G	c.(523-525)CCT>CCG	p.P175P	ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Silent_p.P96P|ACSM2A_uc002dhf.3_Silent_p.P175P|ACSM2A_uc002dhg.3_Silent_p.P175P|ACSM2A_uc010vay.1_Silent_p.P96P	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	175					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						CTGAATGTCCTTCTCTGAGAA	0.408													G	20480970	T	G	20480970	2	3	2	1	0	0	0	0	0	0	0	1	183	1596	56	5		5	ACSM2A	16	20480970	Silent	SNP	T	TCGA-B7-5818-01A-11D-1600-08	1636590	20480970	69873783	383	1915											
ACSM2A	123876	broad.mit.edu	37	chr16	20497948	20497948	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacagggaaaattcaacgagCcaagcttcgagacaaggagt	11	9	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:20497948C>A	uc010bwe.2	+	15	1921	c.1682C>A	c.(1681-1683)GCC>GAC	p.A561D	ACSM2A_uc002dhf.3_Missense_Mutation_p.A561D|ACSM2A_uc002dhg.3_Missense_Mutation_p.A561D|ACSM2A_uc010vay.1_Missense_Mutation_p.A482D|ACSM2A_uc002dhh.3_Missense_Mutation_p.A191D|uc002dhi.1_5'Flank	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	561					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						ATTCAACGAGCCAAGCTTCGA	0.468													A	20497948	C	A	20497948	3	1	2	1	0	0	0	0	1	0	0	0	183	739	26	5	1732	5	ACSM2A	16	20497948	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	16978	20497948	69856805	384	1916											
DNAH3	55567	broad.mit.edu	37	chr16	21078701	21078701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagcttctctgccatccGtggctggtcggctgccacca	11	14	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:21078701G>A	uc010vbe.1	-	24	3421	c.3421C>T	c.(3421-3423)CGG>TGG	p.R1141W		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1141	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TCTGCCATCCGTGGCTGGTCG	0.463													A	21078701	G	A	21078701	3	1	2	1	0	0	0	0	1	0	0	0	4603	1144	40	1	9084	1	DNAH3	16	21078701	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	580753	21078701	69276052	385	1917											
EARS2	124454	broad.mit.edu	37	chr16	23546498	23546498	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggtatgtggggaagccGtcgctcttcatgatgactgg	16	7	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:23546498G>A	uc002dlt.3	-	4	701	c.669C>T	c.(667-669)GAC>GAT	p.D223D	EARS2_uc002dlr.3_RNA|EARS2_uc002dls.3_RNA|EARS2_uc002dlu.2_Silent_p.D223D	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2 precursor	223					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding				0				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	TGGGGAAGCCGTCGCTCTTCA	0.627													A	23546498	G	A	23546498	2	1	2	1	0	0	0	0	0	0	0	1	4878	1136	40	1		1	EARS2	16	23546498	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	2467797	23546498	66808255	386	1918											
ABCC12	94160	broad.mit.edu	37	chr16	48173246	48173246	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttgacagtatattgagcAcctggaaagaaaagcgcaaa	9	8	0	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:48173246A>G	uc002efc.1	-	5	1005	c.659T>C	c.(658-660)GTG>GCG	p.V220A	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.V220A|ABCC12_uc010vgj.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	220	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				TATATTGAGCACCTGGAAAGA	0.458													G	48173246	A	G	48173246	3	3	2	1	0	0	0	0	1	0	0	0	52	173	6	3	3520	3	ABCC12	16	48173246	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	24626748	48173246	42181507	387	1919											
ADCY7	113	broad.mit.edu	37	chr16	50325788	50325788	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggaggcttcacgacacccAgtgtccgggtggggctgcag	17	11	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:50325788A>G	uc002egd.1	+	3	785	c.517A>G	c.(517-519)AGT>GGT	p.S173G	ADCY7_uc002egb.1_Missense_Mutation_p.S173G|ADCY7_uc002egc.1_Missense_Mutation_p.S173G	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	173					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CACGACACCCAGTGTCCGGGT	0.657													G	50325788	A	G	50325788	3	3	2	1	0	0	0	0	1	0	0	0	299	188	7	3	527	3	ADCY7	16	50325788	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	2152542	50325788	40028965	388	1920											
CES7	221223	broad.mit.edu	37	chr16	55900005	55900005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccttgaaggcccagttcCccggagcatgctgatcccat	11	14	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:55900005C>T	uc002eip.2	-	5	724	c.575G>A	c.(574-576)GGG>GAG	p.G192E	CES7_uc002eio.2_Missense_Mutation_p.G192E|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Missense_Mutation_p.G86E	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	192						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		GGCCCAGTTCCCCGGAGCATG	0.577													T	55900005	C	T	55900005	3	4	2	1	0	0	0	0	1	0	0	0	3272	623	22	4	1188	4	CES7	16	55900005	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	5574217	55900005	34454748	389	1921											
BBS2	583	broad.mit.edu	37	chr16	56540055	56540055	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattctccagtatcgggatgTtttgtcataaactccaactg	7	9	2	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:56540055T>C	uc002ejd.2	-	6	928	c.694A>G	c.(694-696)ACA>GCA	p.T232A	BBS2_uc010ccg.2_Missense_Mutation_p.T232A	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2 protein	232					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			ovary(1)	1						TATCGGGATGTTTTGTCATAA	0.368									Bardet-Biedl_syndrome				C	56540055	T	C	56540055	3	2	2	1	0	0	0	0	1	0	0	0	1338	1725	60	3	1519	3	BBS2	16	56540055	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	640050	56540055	33814698	390	1922											
RLTPR	146206	broad.mit.edu	37	chr16	67685834	67685834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccttagggacatgcggCtatcaatcacggggaccttg	12	12	2	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:67685834C>T	uc002etn.2	+	26	2719	c.2599C>T	c.(2599-2601)CTA>TTA	p.L867L	RLTPR_uc010cel.1_Silent_p.L860L|RLTPR_uc010vjr.1_Silent_p.L831L|RLTPR_uc010vjs.1_5'Flank	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	867										breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGACATGCGGCTATCAATCAC	0.458													T	67685834	C	T	67685834	2	4	2	1	0	0	0	0	0	0	0	1	13394	796	28	2		2	RLTPR	16	67685834	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	11145779	67685834	22668919	391	1923											
FOXF1	2294	broad.mit.edu	37	chr16	86544609	86544609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggcggccgcgcggcttccGaaggaaatgccaggcgctca	16	14	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:86544609G>A	uc002fjl.2	+	1	477	c.434G>A	c.(433-435)CGA>CAA	p.R145Q	uc002fjk.1_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	145					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0						CGCGGCTTCCGAAGGAAATGC	0.682													A	86544609	G	A	86544609	3	1	2	1	0	0	0	0	1	0	0	0	6005	1058	37	1	436	1	FOXF1	16	86544609	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	18858775	86544609	3810144	392	1924											
SERPINF2	5345	broad.mit.edu	37	chr17	1650311	1650311	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgtgcggtgccctccAggtgctcagaaccacacgtt	11	15	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:1650311A>C	uc002ftk.1	+	6	445	c.368_splice	c.e6-2	p.G123_splice	SERPINF2_uc010vqr.1_Splice_Site_p.G59_splice	NM_000934	NP_000925	P08697	A2AP_HUMAN	alpha-2-antiplasmin isoform a precursor						acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	GGTGCCCTCCAGGTGCTCAGA	0.682													C	1650311	A	C	1650311	5	2	2	1	0	0	0	0	0	0	1	0	14115	202	7	5	394	5	SERPINF2	17	1650311	Splice_Site	SNP	A	TCGA-B7-5818-01A-11D-1600-08		1650311	79544899	393	1925											
MINK1	50488	broad.mit.edu	37	chr17	4799503	4799503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtcctttgccgacctcCcccaccgccctctgctggtc	8	20	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:4799503C>T	uc010vsl.1	+	29	3677	c.3481C>T	c.(3481-3483)CCC>TCC	p.P1161S	MINK1_uc010vsk.1_Missense_Mutation_p.P1132S|MINK1_uc010vsm.1_Missense_Mutation_p.P1141S|MINK1_uc010vsn.1_Missense_Mutation_p.P1124S|MINK1_uc010vso.1_Missense_Mutation_p.P1069S|MINK1_uc010vsp.1_Missense_Mutation_p.P622S	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	1161	Mediates interaction with RAP2A.|CNH.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						TGCCGACCTCCCCCACCGCCC	0.642											OREG0024107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	4799503	C	T	4799503	3	4	2	1	0	0	0	0	1	0	0	0	9587	623	22	4	3362	4	MINK1	17	4799503	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	3149192	4799503	76395707	394	1926											
TP53	7157	broad.mit.edu	37	chr17	7578176	7578176	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccccagttgcaaaccagaCctcaggcggctcatagggca	11	14	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:7578176C>T	uc002gim.2	-	6	866	c.672_splice	c.e6+1	p.E224_splice	TP53_uc002gig.1_Splice_Site_p.E224_splice|TP53_uc002gih.2_Splice_Site_p.E224_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.E92_splice|TP53_uc010cng.1_Splice_Site_p.E92_splice|TP53_uc002gii.1_Splice_Site_p.E92_splice|TP53_uc010cnh.1_Splice_Site_p.E224_splice|TP53_uc010cni.1_Splice_Site_p.E224_splice|TP53_uc002gij.2_Splice_Site_p.E224_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.E131_splice|TP53_uc002gio.2_Splice_Site_p.E92_splice|TP53_uc010vug.1_Missense_Mutation_p.V186I	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(26)|p.0?(7)|p.V225fs*24(1)|p.E224_V225insXX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAAACCAGACCTCAGGCGGC	0.517		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7578176	C	T	7578176	5	4	2	1	0	0	0	0	0	0	1	0	16378	521	18	4	621	4	TP53	17	7578176	Splice_Site	SNP	C	TCGA-B7-5818-01A-11D-1600-08	2778673	7578176	73617034	395	1927											
TRPV2	51393	broad.mit.edu	37	chr17	16326203	16326203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggacttgcttttatttcGgtgagtgagcctttcttgga	12	6	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:16326203G>A	uc002gpy.2	+	4	992	c.625G>A	c.(625-627)GGT>AGT	p.G209S	TRPV2_uc002gpz.2_5'UTR	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	209	Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 4.				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTTTTATTTCGGTGAGTGAGC	0.343													A	16326203	G	A	16326203	3	1	2	1	0	0	0	0	1	0	0	0	16593	1130	39	1	635	1	TRPV2	17	16326203	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	8748027	16326203	64869007	396	1928											
POLDIP2	26073	broad.mit.edu	37	chr17	26679998	26679998	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgttggatgggaacctgatCagtggaggtgtaggggagga	19	3	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:26679998C>T	uc002haz.2	-	9	694	c.562G>A	c.(562-564)GAT>AAT	p.D188N	POLDIP2_uc010wag.1_RNA	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN	DNA polymerase delta interacting protein 2	188						mitochondrial nucleoid|nucleus					0	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GGAACCTGATCAGTGGAGGTG	0.483													T	26679998	C	T	26679998	3	4	2	1	0	0	0	0	1	0	0	0	12194	826	29	4	568	4	POLDIP2	17	26679998	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	10353795	26679998	54515212	397	1929											
EFCAB5	374786	broad.mit.edu	37	chr17	28405470	28405470	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccaatgtgctgcagagacaaGtggggtgtccctagagccgg	15	10	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:28405470G>C	uc002het.2	+	15	3167	c.2975G>C	c.(2974-2976)AGT>ACT	p.S992T	EFCAB5_uc010cse.2_Missense_Mutation_p.S747T|EFCAB5_uc010csf.2_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	992							calcium ion binding			ovary(1)|skin(1)	2						GCAGAGACAAGTGGGGTGTCC	0.473													C	28405470	G	C	28405470	3	2	2	1	0	0	0	0	1	0	0	0	4938	1029	36	5	3200	5	EFCAB5	17	28405470	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	1725472	28405470	52789740	398	1930											
AMAC1	146861	broad.mit.edu	37	chr17	33520866	33520866	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaccagtcgtagccactgAgaccctggctctcaaggcag	10	15	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:33520866A>G	uc002hjd.2	-	1	547	c.461T>C	c.(460-462)CTC>CCC	p.L154P		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	154	DUF6 1.					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(366;0.0917)		GTAGCCACTGAGACCCTGGCT	0.602													G	33520866	A	G	33520866	3	3	2	1	0	0	0	0	1	0	0	0	559	304	11	3	559	3	AMAC1	17	33520866	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	5115396	33520866	47674344	399	1931											
CCL15	6359	broad.mit.edu	37	chr17	34324842	34324842	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctttttcatgcaatcctgAactcccggaccactgggttt	8	12	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:34324842A>C	uc010wcu.1	-	4	872	c.303T>G	c.(301-303)GTT>GTG	p.V101V	CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA	NM_032965	NP_116741	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15 precursor	101					cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCAATCCTGAACTCCCGGAC	0.498													C	34324842	A	C	34324842	2	2	2	1	0	0	0	0	0	0	0	1	2886	233	9	5		5	CCL15	17	34324842	Silent	SNP	A	TCGA-B7-5818-01A-11D-1600-08	803976	34324842	46870368	400	1932											
HDAC5	10014	broad.mit.edu	37	chr17	42158248	42158248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccattgccatggtgaatGtcctatgaggggaggtagaa	15	6	0	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:42158248G>A	uc002ifd.1	-	21	2821	c.2610C>T	c.(2608-2610)GAC>GAT	p.D870D	HDAC5_uc002ife.1_Silent_p.D870D|HDAC5_uc002iff.1_Silent_p.D871D|HDAC5_uc010czp.1_Silent_p.D785D	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	870	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CATGGTGAATGTCCTATGAGG	0.458													A	42158248	G	A	42158248	2	1	2	1	0	0	0	0	0	0	0	1	7010	1368	48	4		4	HDAC5	17	42158248	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	7833406	42158248	39036962	401	1933											
SLC35B1	10237	broad.mit.edu	37	chr17	47784418	47784418	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttggctccttccccataCtttcctcttgttctagaaat	5	13	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:47784418C>T	uc002iph.1	-	2	204	c.117G>A	c.(115-117)AAG>AAA	p.K39K	SLC35B1_uc002ipi.1_5'UTR|SLC35B1_uc002ipj.1_5'UTR|SLC35B1_uc010wly.1_Silent_p.K39K	NM_005827	NP_005818	P78383	S35B1_HUMAN	solute carrier family 35, member B1	39						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity				0						CTTCCCCATACTTTCCTCTTG	0.408													T	47784418	C	T	47784418	2	4	2	1	0	0	0	0	0	0	0	1	14575	564	20	4		4	SLC35B1	17	47784418	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	5626170	47784418	33410792	402	1934											
SGCA	6442	broad.mit.edu	37	chr17	48243432	48243432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcttctggactcctctcCtcgtgggcaagttggggcct	11	14	3	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:48243432C>T	uc002iqi.2	+	1	67	c.31C>T	c.(31-33)CTC>TTC	p.L11F	SGCA_uc010wmh.1_5'UTR|SGCA_uc002iqj.2_Missense_Mutation_p.L11F|SGCA_uc010wmi.1_RNA	NM_000023	NP_000014	Q16586	SGCA_HUMAN	sarcoglycan, alpha isoform 1 precursor	11					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(2)	2						GACTCCTCTCCTCGTGGGCAA	0.512													T	48243432	C	T	48243432	3	4	2	1	0	0	0	0	1	0	0	0	14199	681	24	4	33	4	SGCA	17	48243432	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	459014	48243432	32951778	403	1935											
C17orf47	284083	broad.mit.edu	37	chr17	56620386	56620386	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggatacctgggtgtaggtcCttgggacatgtaagtaattt	13	5	0	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:56620386C>A	uc002iwq.1	-	1	1298	c.1162G>T	c.(1162-1164)GGA>TGA	p.G388*	SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	hypothetical protein LOC284083	388										breast(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGTGTAGGTCCTTGGGACATG	0.507													A	56620386	C	A	56620386	4	1	2	1	0	0	0	0	0	1	0	0	1858	690	24	5	558	5	C17orf47	17	56620386	Nonsense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	8376954	56620386	24574824	404	1936											
MARCH10	162333	broad.mit.edu	37	chr17	60814271	60814271	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggggtcgatgtcccccCaaatctacttcttttgtgat	9	11	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:60814271C>A	uc010ddr.2	-	6	1196	c.958G>T	c.(958-960)GGG>TGG	p.G320W	MARCH10_uc002jag.3_Missense_Mutation_p.G320W|MARCH10_uc010dds.2_Missense_Mutation_p.G358W|MARCH10_uc002jah.2_Missense_Mutation_p.G319W|uc002jaj.1_RNA|uc002jak.2_RNA	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN	ring finger protein 190	320							ligase activity|zinc ion binding				0						GATGTCCCCCCAAATCTACTT	0.458													A	60814271	C	A	60814271	3	1	2	1	0	0	0	0	1	0	0	0	9299	594	21	5	1492	5	MARCH10	17	60814271	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	4193885	60814271	20380939	405	1937											
USP36	57602	broad.mit.edu	37	chr17	76795750	76795750	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctccaaatcagtaccTtttctcccgtaagctttatc	4	14	3	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:76795750T>C	uc002jvz.1	-	18	3448	c.3123A>G	c.(3121-3123)AAA>AAG	p.K1041K	USP36_uc002jwa.1_Silent_p.K1041K|USP36_uc002jvy.1_Silent_p.K101K	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	1039					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			AATCAGTACCTTTTCTCCCGT	0.517													C	76795750	T	C	76795750	2	2	2	1	0	0	0	0	0	0	0	1	17064	1623	56	3		3	USP36	17	76795750	Silent	SNP	T	TCGA-B7-5818-01A-11D-1600-08	15981479	76795750	4399460	406	1938											
RNF213	57674	broad.mit.edu	37	chr17	78346774	78346774	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gctttctcgttggcctctcaGagatggccaaggagaagcag	13	10	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:78346774G>C	uc002jyh.1	+	24	7194	c.6971_splice	c.e24-1	p.E2324_splice	uc002jyi.1_Intron|RNF213_uc010dhw.1_Splice_Site_p.E706_splice	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213											ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGGCCTCTCAGAGATGGCCAA	0.567													C	78346774	G	C	78346774	5	2	2	1	0	0	0	0	0	0	1	0	13477	956	33	5	13260	5	RNF213	17	78346774	Splice_Site	SNP	G	TCGA-B7-5818-01A-11D-1600-08	1551024	78346774	2848436	407	1939											
LAMA1	284217	broad.mit.edu	37	chr18	7026061	7026061	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctccccgtagaagccgggCaagcactgctcacagtggac	13	14	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr18:7026061C>A	uc002knm.2	-	17	2413	c.2319G>T	c.(2317-2319)TTG>TTT	p.L773F	LAMA1_uc010wzj.1_Missense_Mutation_p.L249F	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	773	Laminin EGF-like 6.				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)	AGAAGCCGGGCAAGCACTGCT	0.582													A	7026061	C	A	7026061	3	1	2	1	0	0	0	0	1	0	0	0	8605	709	25	5	7096	5	LAMA1	18	7026061	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08		7026061	71051187	408	1940											
PTPRM	5797	broad.mit.edu	37	chr18	8076538	8076538	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagagaaccaactcaaacAtatggtgtaatcactttata	7	7	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr18:8076538A>G	uc002knn.3	+	9	2030	c.1527A>G	c.(1525-1527)ACA>ACG	p.T509T	PTPRM_uc010dkv.2_Silent_p.T509T|PTPRM_uc010wzl.1_Silent_p.T296T	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	509	Fibronectin type-III 3.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				CAACTCAAACATATGGTGTAA	0.343													G	8076538	A	G	8076538	2	3	2	1	0	0	0	0	0	0	0	1	12806	204	8	3		3	PTPRM	18	8076538	Silent	SNP	A	TCGA-B7-5818-01A-11D-1600-08	1050477	8076538	70000710	409	1941											
ROCK1	6093	broad.mit.edu	37	chr18	18564356	18564356	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaataatctctttgcttcCaataaagtatttatttcctg	3	8	2	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr18:18564356C>T	uc002kte.2	-	20	3386	c.2445G>A	c.(2443-2445)TTG>TTA	p.L815L		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	815	Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					TCTTTGCTTCCAATAAAGTAT	0.308													T	18564356	C	T	18564356	2	4	2	1	0	0	0	0	0	0	0	1	13517	593	21	4		4	ROCK1	18	18564356	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	10487818	18564356	59512892	410	1942											
DSG3	1830	broad.mit.edu	37	chr18	29044186	29044186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcagtcaaccccagtcaCaattcaggtaataaatgtaa	6	9	4	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr18:29044186C>T	uc002kws.2	+	9	1221	c.1112C>T	c.(1111-1113)ACA>ATA	p.T371I		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	371	Cadherin 3.|Extracellular (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACCCCAGTCACAATTCAGGTA	0.378													T	29044186	C	T	29044186	3	4	2	1	0	0	0	0	1	0	0	0	4778	478	17	4	1146	4	DSG3	18	29044186	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	10479830	29044186	49033062	411	1943											
LIPG	9388	broad.mit.edu	37	chr18	47109931	47109931	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctctcccacttgtagagtggAgcggatcgagcagaatgcca	12	11	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr18:47109931A>T	uc002ldv.2	+	8	1415	c.1163A>T	c.(1162-1164)GAG>GTG	p.E388V	LIPG_uc010xdh.1_Missense_Mutation_p.E314V	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	endothelial lipase precursor	388	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			ovary(1)|skin(1)	2						TGTAGAGTGGAGCGGATCGAG	0.567													T	47109931	A	T	47109931	3	4	2	1	0	0	0	0	1	0	0	0	8823	304	11	5	1193	5	LIPG	18	47109931	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	18065745	47109931	30967317	412	1944											
NARS	4677	broad.mit.edu	37	chr18	55269717	55269717	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgggcatcaacacgtcgAcctttaaatataagtgaaag	8	8	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr18:55269717A>C	uc002lgs.2	-	13	1613	c.1385T>G	c.(1384-1386)GTC>GGC	p.V462G	NARS_uc002lgt.2_Missense_Mutation_p.V461G|NARS_uc010xea.1_Missense_Mutation_p.V213G	NM_004539	NP_004530	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	462					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding				0		Colorectal(73;0.227)			L-Asparagine(DB00174)	CAACACGTCGACCTTTAAATA	0.398													C	55269717	A	C	55269717	3	2	2	1	0	0	0	0	1	0	0	0	10170	289	10	5	269	5	NARS	18	55269717	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	8159786	55269717	22807531	413	1945											
ATP8B1	5205	broad.mit.edu	37	chr18	55319362	55319362	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaatgcttccaaaaattgAaaaagcattcacaaaagtcc	5	9	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr18:55319362A>C	uc002lgw.2	-	25	3304	c.3304T>G	c.(3304-3306)TCA>GCA	p.S1102A	uc002lgu.1_Intron|uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	1102	Helical; (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				CCAAAAATTGAAAAAGCATTC	0.358									Byler_disease				C	55319362	A	C	55319362	3	2	2	1	0	0	0	0	1	0	0	0	1194	246	9	5	463	5	ATP8B1	18	55319362	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	49645	55319362	22757886	414	1946											
SERPINB4	6318	broad.mit.edu	37	chr18	61326649	61326649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctgtaaaaatagatacGttttttctccgaagagcttg	7	7	1	2	rs140004752		TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr18:61326649G>A	uc002ljg.2	-	3	361	c.335C>T	c.(334-336)ACG>ATG	p.T112M	SERPINB3_uc002lji.2_Missense_Mutation_p.T112M|SERPINB3_uc010dqa.2_Missense_Mutation_p.T112M|SERPINB3_uc010dqb.2_Missense_Mutation_p.T112M			P48594	SPB4_HUMAN	SubName: Full=Squamous cell carcinoma antigen 2;	112					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3						AAATAGATACGTTTTTTCTCC	0.418													A	61326649	G	A	61326649	3	1	2	1	0	0	0	0	1	0	0	0	14103	1145	40	1		1	SERPINB4	18	61326649	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	6007287	61326649	16750599	415	1947											
CDH7	1005	broad.mit.edu	37	chr18	63548089	63548089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctcgctttaaacgactcGcggacatgtatgggactggc	12	11	0	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr18:63548089G>A	uc002ljz.2	+	12	2642	c.2317G>A	c.(2317-2319)GCG>ACG	p.A773T	CDH7_uc002lkb.2_Missense_Mutation_p.A773T	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	773	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A773T(1)		ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				TAAACGACTCGCGGACATGTA	0.408													A	63548089	G	A	63548089	3	1	2	1	0	0	0	0	1	0	0	0	3115	1087	38	1	2359	1	CDH7	18	63548089	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	2221440	63548089	14529159	416	1948											
CCDC102B	79839	broad.mit.edu	37	chr18	66504478	66504478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagttacccaggatctgaagCttcctggcttcgtagaagaa	10	9	1	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr18:66504478C>T	uc002lkk.2	+	4	701	c.478C>T	c.(478-480)CTT>TTT	p.L160F	CCDC102B_uc002lki.2_Missense_Mutation_p.L160F|CCDC102B_uc002lkj.1_Missense_Mutation_p.L160F	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	160										ovary(1)|lung(1)|skin(1)	3		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GGATCTGAAGCTTCCTGGCTT	0.393													T	66504478	C	T	66504478	3	4	2	1	0	0	0	0	1	0	0	0	2737	797	28	2	480	2	CCDC102B	18	66504478	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	2956389	66504478	11572770	417	1949											
RTTN	25914	broad.mit.edu	37	chr18	67871349	67871349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attggtttggtatgaggcagAagatagtgcaggaacttccg	14	5	0	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr18:67871349A>G	uc002lkp.2	-	3	438	c.370T>C	c.(370-372)TCT>CCT	p.S124P	RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.S124P	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	124							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				TATGAGGCAGAAGATAGTGCA	0.368													G	67871349	A	G	67871349	3	3	2	1	0	0	0	0	1	0	0	0	13737	246	9	3	6498	3	RTTN	18	67871349	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	1366871	67871349	10205899	418	1950											
ADNP2	22850	broad.mit.edu	37	chr18	77893739	77893739	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttaggtgaaactaaatcatCtaggagcgatgtgataagtt	10	4	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr18:77893739C>T	uc002lnw.2	+	4	898	c.443C>T	c.(442-444)TCT>TTT	p.S148F		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	148					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ACTAAATCATCTAGGAGCGAT	0.408													T	77893739	C	T	77893739	3	4	2	1	0	0	0	0	1	0	0	0	324	913	32	4	453	4	ADNP2	18	77893739	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	10022390	77893739	183509	419	1951											
GTF2F1	2962	broad.mit.edu	37	chr19	6387561	6387561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttacgcctcccttcttgatGcccttgaacctgcagggagc	10	14	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:6387561G>A	uc002meq.2	-	5	621	c.336C>T	c.(334-336)GGC>GGT	p.G112G	GTF2F1_uc010xjb.1_5'UTR|GTF2F1_uc010xjc.1_Intron	NM_002096	NP_002087	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1,	112					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding				0						CCTTCTTGATGCCCTTGAACC	0.632													A	6387561	G	A	6387561	2	1	2	1	0	0	0	0	0	0	0	1	6858	1306	46	2		2	GTF2F1	19	6387561	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08		6387561	52741422	420	1952											
MUC16	94025	broad.mit.edu	37	chr19	9082954	9082954	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttcagtaaaacctgttgatTgaaatgagcttgcacttatg	8	6	1	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:9082954T>A	uc002mkp.2	-	1	9065	c.8861A>T	c.(8860-8862)CAA>CTA	p.Q2954L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2955	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ACCTGTTGATTGAAATGAGCT	0.498													A	9082954	T	A	9082954	3	1	2	1	0	0	0	0	1	0	0	0	9973	1812	63	5	34998	5	MUC16	19	9082954	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	2695393	9082954	50046029	421	1953											
DNMT1	1786	broad.mit.edu	37	chr19	10250741	10250741	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctgaggaaggaaaccaccaGagagtttttgaacttggagt	12	7	0	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:10250741G>A	uc002mng.2	-	32	3919	c.3739C>T	c.(3739-3741)CTG>TTG	p.L1247L	DNMT1_uc002mne.2_RNA|DNMT1_uc002mnf.2_Silent_p.L171L|DNMT1_uc010xlc.1_Silent_p.L1263L|DNMT1_uc002mnh.2_Silent_p.L1142L|DNMT1_uc010xld.1_Silent_p.L1247L	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	1247	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GAAACCACCAGAGAGTTTTTG	0.607													A	10250741	G	A	10250741	2	1	2	1	0	0	0	0	0	0	0	1	4675	933	33	4		4	DNMT1	19	10250741	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	1167787	10250741	48878242	422	1954											
ICAM5	7087	broad.mit.edu	37	chr19	10404989	10404989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaacagtcgtcgtgagcgCggagtgtgagcgaggcccag	16	10	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:10404989C>T	uc002mnu.3	+	8	2050	c.1985C>T	c.(1984-1986)GCG>GTG	p.A662V	ICAM5_uc002mnv.3_Missense_Mutation_p.A537V	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	662	Extracellular (Potential).|Ig-like C2-type 7.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GTCGTGAGCGCGGAGTGTGAG	0.662													T	10404989	C	T	10404989	3	4	2	1	0	0	0	0	1	0	0	0	7483	768	27	1	2015	1	ICAM5	19	10404989	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	154248	10404989	48723994	423	1955											
ZNF439	90594	broad.mit.edu	37	chr19	11977395	11977395	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgaatatgagtaccaaaaCcccaggagaaacttcaggta	8	8	1	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:11977395C>A	uc002mss.2	+	2	347	c.219C>A	c.(217-219)AAC>AAA	p.N73K	ZNF439_uc002msr.2_5'UTR	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						AGTACCAAAACCCCAGGAGAA	0.313													A	11977395	C	A	11977395	3	1	2	1	0	0	0	0	1	0	0	0	17908	506	18	5	225	5	ZNF439	19	11977395	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	1572406	11977395	47151588	424	1956											
NWD1	284434	broad.mit.edu	37	chr19	16918624	16918624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcgcctatgacaacatcGtcctggtgctggacatcacc	8	15	1	1	rs141165642	byFrequency	TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:16918624G>A	uc002neu.3	+	18	4386	c.3964G>A	c.(3964-3966)GTC>ATC	p.V1322I	NWD1_uc002net.3_Missense_Mutation_p.V1187I|NWD1_uc002nev.3_Missense_Mutation_p.V1116I			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	1322							ATP binding			skin(3)|ovary(2)|pancreas(2)	7						TGACAACATCGTCCTGGTGCT	0.612													A	16918624	G	A	16918624	3	1	2	1	0	0	0	0	1	0	0	0	10781	1145	40	1	3613	1	NWD1	19	16918624	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	4941229	16918624	42210359	425	1957											
CPAMD8	27151	broad.mit.edu	37	chr19	17036025	17036025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgtactaggtagtcggtGgtctctctctccacctcagg	10	13	3	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:17036025G>A	uc002nfb.2	-	26	3701	c.3669C>T	c.(3667-3669)ACC>ACT	p.T1223T		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1176						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						GGTAGTCGGTGGTCTCTCTCT	0.542													A	17036025	G	A	17036025	2	1	2	1	0	0	0	0	0	0	0	1	3795	1335	47	4		4	CPAMD8	19	17036025	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	117401	17036025	42092958	426	1958											
FKBP8	23770	broad.mit.edu	37	chr19	18652561	18652561	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggcagcaaggaactctcGggccagggccccaggctgct	14	14	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:18652561G>A	uc002njk.1	-	2	333	c.220C>T	c.(220-222)CGA>TGA	p.R74*	FKBP8_uc002nji.1_5'Flank|FKBP8_uc010xqi.1_Nonsense_Mutation_p.R103*|FKBP8_uc002njj.1_Nonsense_Mutation_p.R74*|FKBP8_uc002njl.1_Nonsense_Mutation_p.R74*|FKBP8_uc002njm.1_Nonsense_Mutation_p.R74*|FKBP8_uc010ebr.1_5'UTR|FKBP8_uc002njn.2_RNA	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	FK506-binding protein 8	74	Glu-rich.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			ovary(1)	1						AGGAACTCTCGGGCCAGGGCC	0.607													A	18652561	G	A	18652561	4	1	2	1	0	0	0	0	0	1	0	0	5914	1124	39	1	1053	1	FKBP8	19	18652561	Nonsense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	1616536	18652561	40476422	427	1959											
ZNF99	7652	broad.mit.edu	37	chr19	22939044	22939044	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatgaattatcttatgtttaGtaagggctgaaagatggtta	10	2	1	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:22939044G>T	uc010xrh.1	-	8	3074	c.3074C>A	c.(3073-3075)ACT>AAT	p.T1025N		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTTATGTTTAGTAAGGGCTGA	0.348													T	22939044	G	T	22939044	3	4	2	1	0	0	0	0	1	0	0	0	18201	1029	36	5	38	5	ZNF99	19	22939044	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	4286483	22939044	36189939	428	1960											
DYRK1B	9149	broad.mit.edu	37	chr19	40319150	40319150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgttgcgcaggaggtcGtacaggttgtaggacagcag	18	6	0	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:40319150G>A	uc002omj.2	-	6	874	c.594C>T	c.(592-594)TAC>TAT	p.Y198Y	DYRK1B_uc002omi.2_Silent_p.Y198Y|DYRK1B_uc002omk.2_Silent_p.Y198Y	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	198	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GCAGGAGGTCGTACAGGTTGT	0.622													A	40319150	G	A	40319150	2	1	2	1	0	0	0	0	0	0	0	1	4855	1140	40	1		1	DYRK1B	19	40319150	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	17380106	40319150	18809833	429	1961											
PSG3	5671	broad.mit.edu	37	chr19	43242962	43242962	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtaggatcctgcgtccTcccgggtgacattctggatc	13	11	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:43242962T>G	uc002oue.2	-	2	476	c.344A>C	c.(343-345)GAG>GCG	p.E115A	PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.E137A	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	115	Ig-like V-type.				defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				TCCTGCGTCCTCCCGGGTGAC	0.468													G	43242962	T	G	43242962	3	3	2	1	0	0	0	0	1	0	0	0	12656	1551	54	5	962	5	PSG3	19	43242962	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	2923812	43242962	15886021	430	1962											
ZNF234	10780	broad.mit.edu	37	chr19	44660716	44660716	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atacatgtgatgagtgtggaAaaagcttctgttacatctca	9	6	2	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:44660716A>C	uc002oym.2	+	6	854	c.547A>C	c.(547-549)AAA>CAA	p.K183Q	ZNF234_uc002oyl.3_Missense_Mutation_p.K183Q	NM_006630	NP_006621	Q14588	ZN234_HUMAN	zinc finger protein 234	183	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				TGAGTGTGGAAAAAGCTTCTG	0.393													C	44660716	A	C	44660716	3	2	2	1	0	0	0	0	1	0	0	0	17784	15	1	5	561	5	ZNF234	19	44660716	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	1417754	44660716	14468267	431	1963											
ZNF285	26974	broad.mit.edu	37	chr19	44891747	44891747	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acatgggccgcattacgtttTtcaaccgttgatttcatacc	7	11	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:44891747T>G	uc002ozd.3	-	4	747	c.660A>C	c.(658-660)GAA>GAC	p.E220D	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.E227D	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4						CATTACGTTTTTCAACCGTTG	0.468													G	44891747	T	G	44891747	3	3	2	1	0	0	0	0	1	0	0	0	17819	1838	64	5	1116	5	ZNF285	19	44891747	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	231031	44891747	14237236	432	1964											
MEIS3	56917	broad.mit.edu	37	chr19	47918036	47918036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcctccctgcagccgccgtCccgatcctcgatgaccaggt	10	18	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:47918036C>T	uc002pgu.2	-	6	982	c.535G>A	c.(535-537)GAC>AAC	p.D179N	MEIS3_uc002pgo.2_5'Flank|MEIS3_uc002pgp.2_Missense_Mutation_p.D11N|MEIS3_uc002pgq.2_Missense_Mutation_p.D260N|MEIS3_uc002pgr.2_Missense_Mutation_p.D47N|MEIS3_uc002pgt.2_Missense_Mutation_p.D162N|MEIS3_uc002pgv.2_Missense_Mutation_p.D162N|MEIS3_uc002pgs.2_Missense_Mutation_p.D179N|MEIS3_uc010eld.2_Missense_Mutation_p.D179N	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Meis1, myeloid ecotropic viral integration site	179						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CAGCCGCCGTCCCGATCCTCG	0.667													T	47918036	C	T	47918036	3	4	2	1	0	0	0	0	1	0	0	0	9469	855	30	4	758	4	MEIS3	19	47918036	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	3026289	47918036	11210947	433	1965											
ZNF175	7728	broad.mit.edu	37	chr19	52091509	52091509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcacatgggagagaaacCctatgaatgccttgactgtg	10	9	1	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:52091509C>T	uc002pxb.2	+	5	2303	c.1925C>T	c.(1924-1926)CCC>CTC	p.P642L	uc002pxc.1_5'Flank	NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	zinc finger protein 175	642					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GGAGAGAAACCCTATGAATGC	0.438													T	52091509	C	T	52091509	3	4	2	1	0	0	0	0	1	0	0	0	17742	623	22	4	1939	4	ZNF175	19	52091509	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	4173473	52091509	7037474	434	1966											
ZNF528	84436	broad.mit.edu	37	chr19	52918758	52918758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttacaaatgcagtgaatGtggcaaggtctttagttgca	10	7	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:52918758G>A	uc002pzh.2	+	7	1079	c.653G>A	c.(652-654)TGT>TAT	p.C218Y	ZNF528_uc002pzi.2_Translation_Start_Site	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	218	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TGCAGTGAATGTGGCAAGGTC	0.408													A	52918758	G	A	52918758	3	1	2	1	0	0	0	0	1	0	0	0	17966	1377	48	4	667	4	ZNF528	19	52918758	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	827249	52918758	6210225	435	1967											
NLRP4	147945	broad.mit.edu	37	chr19	56369641	56369641	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggatcaggtgacgatctcAgaaatctaccagccccgggg	13	12	3	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:56369641A>G	uc002qmd.3	+	3	1304	c.882A>G	c.(880-882)TCA>TCG	p.S294S	NLRP4_uc002qmf.2_Silent_p.S219S|NLRP4_uc010etf.2_Silent_p.S125S	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	294	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGACGATCTCAGAAATCTACC	0.522													G	56369641	A	G	56369641	2	3	2	1	0	0	0	0	0	0	0	1	10479	175	7	3		3	NLRP4	19	56369641	Silent	SNP	A	TCGA-B7-5818-01A-11D-1600-08	3450883	56369641	2759342	436	1968											
NLRP5	126206	broad.mit.edu	37	chr19	56538970	56538970	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagacacaagggttgcgtgcGatcatgaacaaccgtgagct	12	9	1	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:56538970G>A	uc002qmj.2	+	7	1371	c.1371G>A	c.(1369-1371)GCG>GCA	p.A457A	NLRP5_uc002qmi.2_Silent_p.A438A	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	457	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGTTGCGTGCGATCATGAACA	0.597													A	56538970	G	A	56538970	2	1	2	1	0	0	0	0	0	0	0	1	10480	1045	37	1		1	NLRP5	19	56538970	Silent	SNP	G	TCGA-B7-5818-01A-11D-1600-08	169329	56538970	2590013	437	1969											
USP29	57663	broad.mit.edu	37	chr19	57642751	57642751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactctcggctacctagcaCacaggcaggggtgatccctc	11	14	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:57642751C>T	uc002qny.2	+	4	3064	c.2708C>T	c.(2707-2709)ACA>ATA	p.T903I		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	903					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTACCTAGCACACAGGCAGGG	0.493													T	57642751	C	T	57642751	3	4	2	1	0	0	0	0	1	0	0	0	17056	478	17	4	2710	4	USP29	19	57642751	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	1103781	57642751	1486232	438	1970											
SLC24A3	57419	broad.mit.edu	37	chr20	19565698	19565699	+	In_Frame_Ins	INS	-	-	AGGTAGGTG													agctgttcacatcggtcataINSggtaggtgacagactgaggg							TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr20:19565697_19565698T>TAGGTAGGTG	uc002wrl.3	+	4	703_704	c.506_507T>TAGGTAGGTG	c.(505-507)ata>aTAGGTAGGTG	p.169_170insGR		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	169						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACATCGGTCATAGGTAGGTGAC	0.559													AGGTAGGTG	19565699	-	AGGTAGGTG	19565698	7	5	2	1	0	1	1	0	0	0	0	0	14467	434	15	0	525	0	SLC24A3	20	19565698	In_Frame_Ins	INS	-	TCGA-B7-5818-01A-11D-1600-08		19565698	43459822	439	1971											
GZF1	64412	broad.mit.edu	37	chr20	23350829	23350829	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacagcctgacgaagagtaTgtgtcatccaagctttcgga	11	9	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr20:23350829T>C	uc010gdb.2	+	7	2061	c.1887T>C	c.(1885-1887)TAT>TAC	p.Y629Y	GZF1_uc002wsy.2_Silent_p.Y629Y|GZF1_uc010zsq.1_Silent_p.Y153Y|GZF1_uc010zsr.1_Silent_p.Y138Y|GZF1_uc002wsz.2_Silent_p.Y629Y	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	629					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ACGAAGAGTATGTGTCATCCA	0.463													C	23350829	T	C	23350829	2	2	2	1	0	0	0	0	0	0	0	1	6914	1471	51	3		3	GZF1	20	23350829	Silent	SNP	T	TCGA-B7-5818-01A-11D-1600-08	3785131	23350829	39674691	440	1972											
NCOA6	23054	broad.mit.edu	37	chr20	33329501	33329501	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaggtcctccccagaaActactggaggtgttacttcc	9	11	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr20:33329501A>T	uc002xav.2	-	12	7130	c.4559T>A	c.(4558-4560)GTT>GAT	p.V1520D	NCOA6_uc002xaw.2_Missense_Mutation_p.V1520D	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1520					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						CTCCCCAGAAACTACTGGAGG	0.443													T	33329501	A	T	33329501	3	4	2	1	0	0	0	0	1	0	0	0	10233	43	2	5	1652	5	NCOA6	20	33329501	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	9978672	33329501	29696019	441	1973											
FAM83D	81610	broad.mit.edu	37	chr20	37581154	37581154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtagcactttatccttcCtatcagtaactgctccgtgt	7	11	1	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr20:37581154C>T	uc002xjg.2	+	4	1880	c.1839C>T	c.(1837-1839)TCC>TCT	p.S613S		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	hypothetical protein LOC81610	583					cell division|mitosis	cytoplasm|spindle pole				ovary(3)	3		Myeloproliferative disorder(115;0.00878)				TTTATCCTTCCTATCAGTAAC	0.418													T	37581154	C	T	37581154	2	4	2	1	0	0	0	0	0	0	0	1	5636	668	24	4		4	FAM83D	20	37581154	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	4251653	37581154	25444366	442	1974											
TOX2	84969	broad.mit.edu	37	chr20	42602048	42602048	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtggggatgagtgacggaaaCccagagctcctgtcaaccag	14	10	1	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr20:42602048C>G	uc002xlf.3	+	2	185	c.168C>G	c.(166-168)AAC>AAG	p.N56K	TOX2_uc010ggo.2_Missense_Mutation_p.N47K|TOX2_uc002xle.3_Missense_Mutation_p.N5K|TOX2_uc010ggp.2_Missense_Mutation_p.N5K|TOX2_uc002xlg.2_Missense_Mutation_p.N5K	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GTGACGGAAACCCAGAGCTCC	0.542													G	42602048	C	G	42602048	3	3	2	1	0	0	0	0	1	0	0	0	16375	506	18	5	277	5	TOX2	20	42602048	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	5020894	42602048	20423472	443	1975											
SEMG2	6407	broad.mit.edu	37	chr20	43851115	43851115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagatcaagagcatggccGgaaggcacataaaatatcat	9	8	3	2	rs138747718	by1000genomes	TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr20:43851115G>A	uc010ggz.2	+	2	899	c.842G>A	c.(841-843)CGG>CAG	p.R281Q	SEMG2_uc002xnk.2_Missense_Mutation_p.R281Q|SEMG2_uc002xnl.2_Missense_Mutation_p.R281Q	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	281	Repeat-rich region.|4 X 60 AA tandem repeats, type I.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				GAGCATGGCCGGAAGGCACAT	0.403													A	43851115	G	A	43851115	3	1	2	1	0	0	0	0	1	0	0	0	14045	1116	39	1	848	1	SEMG2	20	43851115	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	1249067	43851115	19174405	444	1976											
CDH22	64405	broad.mit.edu	37	chr20	44839198	44839198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggattcgaagtccaggCgctgcgggagggagcagagg	20	8	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr20:44839198C>T	uc002xrm.2	-	6	1435	c.1034G>A	c.(1033-1035)CGC>CAC	p.R345H	CDH22_uc010ghk.1_Missense_Mutation_p.R345H|CDH22_uc002xrn.1_Missense_Mutation_p.R96H	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	345	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				GAAGTCCAGGCGCTGCGGGAG	0.677													T	44839198	C	T	44839198	3	4	2	1	0	0	0	0	1	0	0	0	3107	782	27	1	1476	1	CDH22	20	44839198	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	988083	44839198	18186322	445	1977											
TPTE	7179	broad.mit.edu	37	chr21	10944678	10944678	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcatacctgggaatatTcctaagcaacttaatgtcaa	6	8	2	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr21:10944678T>G	uc002yip.1	-	11	924	c.556A>C	c.(556-558)AAT>CAT	p.N186H	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.N168H|TPTE_uc002yir.1_Missense_Mutation_p.N148H|TPTE_uc010gkv.1_Missense_Mutation_p.N48H	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	186					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTGGGAATATTCCTAAGCAAC	0.284													G	10944678	T	G	10944678	3	3	2	1	0	0	0	0	1	0	0	0	16427	1783	62	5	1155	5	TPTE	21	10944678	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08		10944678	37185217	446	1978											
GRIK1	2897	broad.mit.edu	37	chr21	31023457	31023457	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcatcatgccatccaaaAggccagtctcgggcctgggt	11	13	3	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr21:31023457A>G	uc002yno.1	-	6	1399	c.935T>C	c.(934-936)CTT>CCT	p.L312P	GRIK1_uc002ynn.2_Missense_Mutation_p.L312P|GRIK1_uc011acs.1_Missense_Mutation_p.L312P|GRIK1_uc011act.1_Missense_Mutation_p.L256P|GRIK1_uc010glq.1_Missense_Mutation_p.L170P|GRIK1_uc002ynr.2_Missense_Mutation_p.L312P	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	312	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GCCATCCAAAAGGCCAGTCTC	0.443													G	31023457	A	G	31023457	3	3	2	1	0	0	0	0	1	0	0	0	6773	72	3	3	2029	3	GRIK1	21	31023457	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	20078779	31023457	17106438	447	1979											
GART	2618	broad.mit.edu	37	chr21	34903839	34903839	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcttcaatgacaattgtttCtccagctgccccaaaggctt	6	12	3	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr21:34903839C>T	uc002yrx.2	-	6	688	c.553G>A	c.(553-555)GAA>AAA	p.E185K	GART_uc002yrz.2_Missense_Mutation_p.E185K|GART_uc010gmd.2_5'UTR|GART_uc002yry.2_Missense_Mutation_p.E185K|GART_uc002ysa.2_Missense_Mutation_p.E185K	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	185	ATP (By similarity).|ATP-grasp.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)	ACAATTGTTTCTCCAGCTGCC	0.338													T	34903839	C	T	34903839	3	4	2	1	0	0	0	0	1	0	0	0	6243	922	32	4	2551	4	GART	21	34903839	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	3880382	34903839	13226056	448	1980											
MORC3	23515	broad.mit.edu	37	chr21	37741808	37741808	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaaaagagaattataaAagacagtgtcatatgtttac	9	3	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr21:37741808A>C	uc002yvi.2	+	15	2218	c.2142A>C	c.(2140-2142)AAA>AAC	p.K714N		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	714	Potential.				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						AGAATTATAAAAGACAGTGTC	0.383													C	37741808	A	C	37741808	3	2	2	1	0	0	0	0	1	0	0	0	9703	11	1	5	2200	5	MORC3	21	37741808	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	2837969	37741808	10388087	449	1981											
HLCS	3141	broad.mit.edu	37	chr21	38308759	38308759	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagtacctggcaaagaAcagcttctcccccgcgagtt	9	15	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr21:38308759A>G	uc010gnb.2	-	4	2187	c.986T>C	c.(985-987)GTT>GCT	p.V329A	HLCS_uc002yvs.2_Missense_Mutation_p.V329A|HLCS_uc010gnc.1_Missense_Mutation_p.V476A	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	329					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CTGGCAAAGAACAGCTTCTCC	0.522													G	38308759	A	G	38308759	3	3	2	1	0	0	0	0	1	0	0	0	7213	43	2	3	1226	3	HLCS	21	38308759	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08	566951	38308759	9821136	450	1982											
AIRE	326	broad.mit.edu	37	chr21	45713694	45713694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggctcctggtgcgcgttGcggggtgtgcggagatggta	19	9	0	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr21:45713694G>A	uc002zei.2	+	11	1428	c.1301G>A	c.(1300-1302)TGC>TAC	p.C434Y	AIRE_uc010gpq.2_RNA|AIRE_uc002zej.2_Missense_Mutation_p.C237Y|AIRE_uc010gpr.2_Missense_Mutation_p.C237Y	NM_000383	NP_000374	O43918	AIRE_HUMAN	autoimmune regulator isoform 1	434	PHD-type 2.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			skin(1)	1				Colorectal(79;0.0806)		GGTGCGCGTTGCGGGGTGTGC	0.706									Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy				A	45713694	G	A	45713694	3	1	2	1	0	0	0	0	1	0	0	0	437	1319	46	2	1631	2	AIRE	21	45713694	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	7404935	45713694	2416201	451	1983											
TRPM2	7226	broad.mit.edu	37	chr21	45833885	45833885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttccctgagtggctgaCggtcctcctactctgcctct	10	16	2	2	rs138586774		TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr21:45833885C>T	uc002zet.1	+	21	3287	c.3074C>T	c.(3073-3075)ACG>ATG	p.T1025M	TRPM2_uc002zeu.1_Missense_Mutation_p.T1025M|TRPM2_uc002zew.1_Missense_Mutation_p.T1025M|TRPM2_uc010gpt.1_Missense_Mutation_p.T1025M|TRPM2_uc002zex.1_Missense_Mutation_p.T811M|TRPM2_uc002zey.1_Missense_Mutation_p.T538M	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	1025	Extracellular (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GAGTGGCTGACGGTCCTCCTA	0.637													T	45833885	C	T	45833885	3	4	2	1	0	0	0	0	1	0	0	0	16583	536	19	1	3152	1	TRPM2	21	45833885	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	120191	45833885	2296010	452	1984											
CECR2	27443	broad.mit.edu	37	chr22	17978449	17978449	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgctctgtgtagggcctggAtgcagacagtctccgtgtgg	16	9	2	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr22:17978449A>G	uc010gqw.1	+	3	413	c.287A>G	c.(286-288)GAT>GGT	p.D96G	CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'UTR	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	138					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		TAGGGCCTGGATGCAGACAGT	0.483													G	17978449	A	G	17978449	3	3	2	1	0	0	0	0	1	0	0	0	3206	333	12	3	299	3	CECR2	22	17978449	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08		17978449	33326117	453	1985											
CABIN1	23523	broad.mit.edu	37	chr22	24472130	24472130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccctagggatgtcagagaCgcccatgctcccatcctccc	8	17	1	1	rs41310246	by1000genomes	TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr22:24472130C>T	uc002zzi.1	+	19	2772	c.2645C>T	c.(2644-2646)ACG>ATG	p.T882M	CABIN1_uc002zzj.1_Missense_Mutation_p.T832M|CABIN1_uc002zzl.1_Missense_Mutation_p.T882M	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	882					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						ATGTCAGAGACGCCCATGCTC	0.592													T	24472130	C	T	24472130	3	4	2	1	0	0	0	0	1	0	0	0	2528	536	19	1	2715	1	CABIN1	22	24472130	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	6493681	24472130	26832436	454	1986											
RIBC2	26150	broad.mit.edu	37	chr22	45828195	45828195	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaatgaagtctatacaaatCaacccacgggagactatttc	7	9	2	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr22:45828195C>T	uc011aqs.1	+	8	1296	c.1087C>T	c.(1087-1089)CAA>TAA	p.Q363*		NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	295											0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CTATACAAATCAACCCACGGG	0.328													T	45828195	C	T	45828195	4	4	2	1	0	0	0	0	0	1	0	0	13353	827	29	4	1112	4	RIBC2	22	45828195	Nonsense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	21356065	45828195	5476371	455	1987											
KAL1	3730	broad.mit.edu	37	chrX	8555945	8555945	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatagaaatattgaatttcgAggaccacttaacctccagct	6	9	0	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chrX:8555945A>G	uc004csf.2	-	5	766	c.616T>C	c.(616-618)TCG>CCG	p.S206P		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	206	Fibronectin type-III 1.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						TTGAATTTCGAGGACCACTTA	0.443													G	8555945	A	G	8555945	3	3	2	1	0	0	0	0	1	0	0	0	7974	304	11	3	1466	3	KAL1	23	8555945	Missense_Mutation	SNP	A	TCGA-B7-5818-01A-11D-1600-08		8555945	146714615	456	1988											
ATXN3L	92552	broad.mit.edu	37	chrX	13337535	13337535	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctgcaggagttggtcagcTtcacagtctggcagatcacc	11	11	5	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chrX:13337535T>G	uc010ned.2	-	1	984	c.519A>C	c.(517-519)GAA>GAC	p.E173D		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	173	Josephin.				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			lung(2)|ovary(2)|large_intestine(1)|skin(1)	6						GTTGGTCAGCTTCACAGTCTG	0.363													G	13337535	T	G	13337535	3	3	2	1	0	0	0	0	1	0	0	0	1214	1606	56	5	552	5	ATXN3L	23	13337535	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	4781590	13337535	141933025	457	1989											
GPRASP1	9737	broad.mit.edu	37	chrX	101910393	101910393	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctgaggaagagaccattTttgggtcgtggttctgggtc	16	6	1	2			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chrX:101910393T>G	uc004ejj.3	+	5	2353	c.1552T>G	c.(1552-1554)TTT>GTT	p.F518V	GPRASP1_uc004eji.3_Missense_Mutation_p.F518V|GPRASP1_uc010nod.2_Missense_Mutation_p.F518V	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	518	Glu-rich.					cytoplasm	protein binding			ovary(1)|lung(1)	2						AGAGACCATTTTTGGGTCGTG	0.507													G	101910393	T	G	101910393	3	3	2	1	0	0	0	0	1	0	0	0	6722	1841	64	5	1554	5	GPRASP1	23	101910393	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	88572858	101910393	53360167	458	1990											
IRS4	8471	broad.mit.edu	37	chrX	107978572	107978572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggcagcgggctctgtattCgtctgcacacaaggctctca	12	13	3	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chrX:107978572C>T	uc004eoc.2	-	1	1036	c.1003G>A	c.(1003-1005)GAA>AAA	p.E335K		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	335	IRS-type PTB.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						GCTCTGTATTCGTCTGCACAC	0.592													T	107978572	C	T	107978572	3	4	2	1	0	0	0	0	1	0	0	0	7842	893	31	1	2774	1	IRS4	23	107978572	Missense_Mutation	SNP	C	TCGA-B7-5818-01A-11D-1600-08	6068179	107978572	47291988	459	1991											
ENOX2	10495	broad.mit.edu	37	chrX	129771267	129771267	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttctttgttagggtcatctTctctgtggactttgccttgt	10	8	4	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chrX:129771267T>G	uc004evw.2	-	12	1752	c.1334A>C	c.(1333-1335)GAA>GCA	p.E445A	ENOX2_uc004evx.2_Missense_Mutation_p.E416A|ENOX2_uc004evy.2_Missense_Mutation_p.E416A|ENOX2_uc004evv.2_Missense_Mutation_p.E270A	NM_182314	NP_872114	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2 isoform b	445	Potential.				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			ovary(1)	1						AGGGTCATCTTCTCTGTGGAC	0.478													G	129771267	T	G	129771267	3	3	2	1	0	0	0	0	1	0	0	0	5127	1783	62	5	518	5	ENOX2	23	129771267	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	21792695	129771267	25499293	460	1992											
USP26	83844	broad.mit.edu	37	chrX	132160981	132160981	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acccactggtgtcaggatcaTcagcaaaaacctgtttagga	9	10	3	0			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chrX:132160981T>G	uc010nrm.1	-	6	1738	c.1268A>C	c.(1267-1269)GAT>GCT	p.D423A	USP26_uc011mvf.1_Missense_Mutation_p.D423A	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	423					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					GTCAGGATCATCAGCAAAAAC	0.373													G	132160981	T	G	132160981	3	3	2	1	0	0	0	0	1	0	0	0	17054	1435	50	5	1476	5	USP26	23	132160981	Missense_Mutation	SNP	T	TCGA-B7-5818-01A-11D-1600-08	2389714	132160981	23109579	461	1993											
MAGEA4	4103	broad.mit.edu	37	chrX	151092439	151092439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccaagcacctcgcctgaCgcagagtccttgttccgaga	12	14	0	3			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chrX:151092439C>T	uc004fez.2	+	3	459	c.303C>T	c.(301-303)GAC>GAT	p.D101D	MAGEA4_uc004ffa.2_Silent_p.D101D|MAGEA4_uc004ffb.2_Silent_p.D101D|MAGEA4_uc004ffc.2_Silent_p.D101D|MAGEA4_uc004ffd.2_Silent_p.D101D	NM_002362	NP_002353	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	101							protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCGCCTGACGCAGAGTCCT	0.557													T	151092439	C	T	151092439	2	4	2	1	0	0	0	0	0	0	0	1	9168	535	19	1		1	MAGEA4	23	151092439	Silent	SNP	C	TCGA-B7-5818-01A-11D-1600-08	18931458	151092439	4178121	462	1994											
MAGEA3	4102	broad.mit.edu	37	chrX	151935737	151935737	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatcacaggaaagaaatactGccaatttccgacgacactcc	7	12	1	1			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chrX:151935737G>T	uc004fgp.2	-	3	639	c.430C>A	c.(430-432)CAG>AAG	p.Q144K		NM_005362	NP_005353	P43357	MAGA3_HUMAN	melanoma antigen family A, 3	144	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAAATACTGCCAATTTCCG	0.517													T	151935737	G	T	151935737	3	4	2	1	0	0	0	0	1	0	0	0	9167	1328	46	5	518	5	MAGEA3	23	151935737	Missense_Mutation	SNP	G	TCGA-B7-5818-01A-11D-1600-08	843298	151935737	3334823	463	1995											
CA6	765	broad.mit.edu	37	chr1	9027761	9027761	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgacgttcaggacatgctGcccaggaacctccagcacta	9	14	1	1	rs151137875		TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr1:9027761G>T	uc001apm.2	+	6	639	c.615G>T	c.(613-615)CTG>CTT	p.L205L	CA6_uc009vmn.2_Silent_p.L145L	NM_001215	NP_001206	P23280	CAH6_HUMAN	carbonic anhydrase VI precursor	205					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			ovary(2)	2	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		AGGACATGCTGCCCAGGAACC	0.557													T	9027761	G	T	9027761	2	4	3	1	0	0	0	0	0	0	0	1	2521	1306	46	5		5	CA6	1	9027761	Silent	SNP	G	TCGA-BR-4183-01A-02D-1126-08		9027761	240222860	1	1996											
SPTA1	6708	broad.mit.edu	37	chr1	158646014	158646014	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagaccagatcttctttcatCtcctggatctgaggtgcatc	9	11	5	3			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr1:158646014C>A	uc001fst.1	-	8	1228	c.1029G>T	c.(1027-1029)GAG>GAT	p.E343D		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	343	Spectrin 4.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CTTCTTTCATCTCCTGGATCT	0.483													A	158646014	C	A	158646014	3	1	3	1	0	0	0	0	1	0	0	0	15115	912	32	5	6410	5	SPTA1	1	158646014	Missense_Mutation	SNP	C	TCGA-BR-4183-01A-02D-1126-08	149618253	158646014	90604607	2	1997											
TADA1	117143	broad.mit.edu	37	chr1	166829516	166829516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catatttaaaatgaccatctCgtaaccgataagctttcctt	4	10	1	1			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr1:166829516C>T	uc001gdw.2	-	6	783	c.599G>A	c.(598-600)CGA>CAA	p.R200Q	TADA1_uc001gdv.2_Missense_Mutation_p.R58Q	NM_053053	NP_444281	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1-like	200					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(1)	1						ATGACCATCTCGTAACCGATA	0.363													T	166829516	C	T	166829516	3	4	3	1	0	0	0	0	1	0	0	0	15506	884	31	1	420	1	TADA1	1	166829516	Missense_Mutation	SNP	C	TCGA-BR-4183-01A-02D-1126-08	8183502	166829516	82421105	3	1998											
CACNA1E	777	broad.mit.edu	37	chr1	181695296	181695296	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacccaacatgccttcgatCgagtgagtcagctgccccct	9	16	1	1			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr1:181695296C>T	uc001gow.2	+	18	2403	c.2238C>T	c.(2236-2238)ATC>ATT	p.I746I	CACNA1E_uc009wxs.2_Silent_p.I653I	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	746	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TGCCTTCGATCGAGTGAGTCA	0.423													T	181695296	C	T	181695296	2	4	3	1	0	0	0	0	0	0	0	1	2542	874	31	1		1	CACNA1E	1	181695296	Silent	SNP	C	TCGA-BR-4183-01A-02D-1126-08	14865780	181695296	67555325	4	1999											
CACNA1E	777	broad.mit.edu	37	chr1	181724463	181724463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcatctttgctgtcatcGcagttcagctcttcaaggga	9	10	6	0			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr1:181724463G>A	uc001gow.2	+	28	4084	c.3919G>A	c.(3919-3921)GCA>ACA	p.A1307T	CACNA1E_uc009wxs.2_Missense_Mutation_p.A1195T|CACNA1E_uc001gox.1_Missense_Mutation_p.A533T|CACNA1E_uc009wxt.2_Missense_Mutation_p.A533T	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1307	III.|Helical; Name=S5 of repeat III.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TGCTGTCATCGCAGTTCAGCT	0.468													A	181724463	G	A	181724463	3	1	3	1	0	0	0	0	1	0	0	0	2542	1087	38	1	4029	1	CACNA1E	1	181724463	Missense_Mutation	SNP	G	TCGA-BR-4183-01A-02D-1126-08	29167	181724463	67526158	5	2000											
LRRN2	10446	broad.mit.edu	37	chr1	204587180	204587180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcctgtgccaaggtgggcCgctagcccagctgccaggag	16	13	0	0			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr1:204587180C>T	uc001hbe.1	-	3	2329	c.1941G>A	c.(1939-1941)GCG>GCA	p.A647A	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Silent_p.A647A|LRRN2_uc009xbf.1_Silent_p.A647A|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	647	Helical; (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CAAGGTGGGCCGCTAGCCCAG	0.662													T	204587180	C	T	204587180	2	4	3	1	0	0	0	0	0	0	0	1	9035	639	23	1		1	LRRN2	1	204587180	Silent	SNP	C	TCGA-BR-4183-01A-02D-1126-08	22862717	204587180	44663441	6	2001											
OR6F1	343169	broad.mit.edu	37	chr1	247875662	247875662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctactcatgatggctccGtagtgtaaaggatagcagat	12	7	1	2			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr1:247875662G>A	uc001idj.1	-	1	396	c.396C>T	c.(394-396)TAC>TAT	p.Y132Y		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	132	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGATGGCTCCGTAGTGTAAAG	0.557													A	247875662	G	A	247875662	2	1	3	1	0	0	0	0	0	0	0	1	11201	1140	40	1		1	OR6F1	1	247875662	Silent	SNP	G	TCGA-BR-4183-01A-02D-1126-08	43288482	247875662	1374959	7	2002											
OR2T12	127064	broad.mit.edu	37	chr1	248457952	248457952	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcctcattttgctggtgtTttaggtttacacacgtcccc	10	11	1	0			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr1:248457952T>G	uc010pzj.1	-	1	929	c.929A>C	c.(928-930)AAA>ACA	p.K310T		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	310	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TTGCTGGTGTTTTAGGTTTAC	0.433													G	248457952	T	G	248457952	3	3	3	1	0	0	0	0	1	0	0	0	11019	1841	64	5	36	5	OR2T12	1	248457952	Missense_Mutation	SNP	T	TCGA-BR-4183-01A-02D-1126-08	582290	248457952	792669	8	2003											
ALLC	55821	broad.mit.edu	37	chr2	3749215	3749215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaagtggaaaccactgcttCcagtgaccaaggttcgtgtg	11	10	0	1			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr2:3749215C>T	uc010ewt.2	+	11	1125	c.964C>T	c.(964-966)CCA>TCA	p.P322S	ALLC_uc002qyf.2_Missense_Mutation_p.P93S	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	allantoicase isoform a	341							allantoicase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ACCACTGCTTCCAGTGACCAA	0.488										HNSCC(21;0.051)			T	3749215	C	T	3749215	3	4	3	1	0	0	0	0	1	0	0	0	534	855	30	4	1002	4	ALLC	2	3749215	Missense_Mutation	SNP	C	TCGA-BR-4183-01A-02D-1126-08		3749215	239450158	9	2004											
FAM179A	165186	broad.mit.edu	37	chr2	29268228	29268228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgcttgctgggcgagtgCgtttcctgagtggccgtgcg	17	11	0	1			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr2:29268228C>T	uc010ezl.2	+	19	3025	c.2674C>T	c.(2674-2676)CGT>TGT	p.R892C	FAM179A_uc010ymm.1_Missense_Mutation_p.R837C|FAM179A_uc002rmr.3_Missense_Mutation_p.R419C|FAM179A_uc002rms.1_Missense_Mutation_p.R190C	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	hypothetical protein LOC165186	892							binding			ovary(3)|skin(1)	4						TGGGCGAGTGCGTTTCCTGAG	0.612													T	29268228	C	T	29268228	3	4	3	1	0	0	0	0	1	0	0	0	5505	768	27	1	2744	1	FAM179A	2	29268228	Missense_Mutation	SNP	C	TCGA-BR-4183-01A-02D-1126-08	25519013	29268228	213931145	10	2005											
POLR1A	25885	broad.mit.edu	37	chr2	86308050	86308050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacagcctgcaagttcacCgtctggccattagtaaacat	8	11	2	1			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr2:86308050C>T	uc002sqs.2	-	9	1354	c.975G>A	c.(973-975)ACG>ACA	p.T325T	POLR1A_uc002sqv.2_Silent_p.T325T	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	325					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						GCAAGTTCACCGTCTGGCCAT	0.493													T	86308050	C	T	86308050	2	4	3	1	0	0	0	0	0	0	0	1	12209	639	23	1		1	POLR1A	2	86308050	Silent	SNP	C	TCGA-BR-4183-01A-02D-1126-08	57039822	86308050	156891323	11	2006											
TMEM177	80775	broad.mit.edu	37	chr2	120461483	120461483	+	RNA	DEL	A	A	-													catcctttgttggtttccttAaacttgtccacatctctgta							TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr2:120461483delA	uc002tme.2	+	13		c.1505delA						Q53S58	TM177_HUMAN	Homo sapiens cDNA FLJ32751 fis, clone TESTI2001621.							integral to membrane				ovary(1)	1	Colorectal(110;0.196)					tggtttccttaaacttgtcca	0.005													-	120461483	A	-	120461483	6	5	3	0	1	1	0	1	0	0	0	0	16091	377	13	0		0	TMEM177	2	120461483	RNA	DEL	A	TCGA-BR-4183-01A-02D-1126-08	34153433	120461483	122737890	12	2007											
UGGT1	56886	broad.mit.edu	37	chr2	128922385	128922385	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatcgagtaccagtttttTgaagacagacacaggtatag	10	6	0	4			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr2:128922385T>G	uc002tps.2	+	26	3085	c.2907T>G	c.(2905-2907)TTT>TTG	p.F969L	UGGT1_uc010fme.1_Missense_Mutation_p.F844L|UGGT1_uc002tpr.2_Missense_Mutation_p.F945L	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	969					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1						ACCAGTTTTTTGAAGACAGAC	0.388													G	128922385	T	G	128922385	3	3	3	1	0	0	0	0	1	0	0	0	16938	1809	63	5	3009	5	UGGT1	2	128922385	Missense_Mutation	SNP	T	TCGA-BR-4183-01A-02D-1126-08	8460902	128922385	114276988	13	2008											
TTN	7273	broad.mit.edu	37	chr2	179424587	179424587	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggtcttcctcatttcacTgtcaatatcaaataaaggtt	5	9	5	0			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr2:179424587T>C	uc010zfg.1	-	275	78792	c.78568A>G	c.(78568-78570)AGT>GGT	p.S26190G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S19885G|TTN_uc010zfi.1_Missense_Mutation_p.S19818G|TTN_uc010zfj.1_Missense_Mutation_p.S19693G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27117							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCATTTCACTGTCAATATCA	0.443													C	179424587	T	C	179424587	3	2	3	1	0	0	0	0	1	0	0	0	16732	1580	55	3	21855	3	TTN	2	179424587	Missense_Mutation	SNP	T	TCGA-BR-4183-01A-02D-1126-08	50502202	179424587	63774786	14	2009											
RARB	5915	broad.mit.edu	37	chr3	25637920	25637920	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttttgaaaaggtgcagagcGtgtaattaccttgaaaatgg	11	5	0	3			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr3:25637920G>C	uc011awl.1	+	8	1247	c.1181G>C	c.(1180-1182)CGT>CCT	p.R394P	RARB_uc003cdi.1_Missense_Mutation_p.R275P|RARB_uc003cdh.2_Missense_Mutation_p.R387P	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	394	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GGTGCAGAGCGTGTAATTACC	0.378													C	25637920	G	C	25637920	3	2	3	1	0	0	0	0	1	0	0	0	13053	1145	40	5	1190	5	RARB	3	25637920	Missense_Mutation	SNP	G	TCGA-BR-4183-01A-02D-1126-08		25637920	172384510	15	2010											
TRAK1	22906	broad.mit.edu	37	chr3	42264466	42264466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaactccagcttgtggcaGcaccagccacttgaaatcca	7	16	0	1			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr3:42264466G>A	uc003cky.2	+	16	2315	c.2099G>A	c.(2098-2100)AGC>AAC	p.S700N	TRAK1_uc011azi.1_Missense_Mutation_p.S679N	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	700					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						GCTTGTGGCAGCACCAGCCAC	0.557													A	42264466	G	A	42264466	3	1	3	1	0	0	0	0	1	0	0	0	16446	971	34	2	2549	2	TRAK1	3	42264466	Missense_Mutation	SNP	G	TCGA-BR-4183-01A-02D-1126-08	16626546	42264466	155757964	16	2011											
COL7A1	1294	broad.mit.edu	37	chr3	48629354	48629354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcacgccgccattccaacCggtagccacgggcctcaggc	10	18	2	0			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr3:48629354C>T	uc003ctz.2	-	10	1335	c.1334G>A	c.(1333-1335)CGG>CAG	p.R445Q		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	445	Nonhelical region (NC1).|Fibronectin type-III 3.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCATTCCAACCGGTAGCCACG	0.632													T	48629354	C	T	48629354	3	4	3	1	0	0	0	0	1	0	0	0	3704	652	23	1	7936	1	COL7A1	3	48629354	Missense_Mutation	SNP	C	TCGA-BR-4183-01A-02D-1126-08	6364888	48629354	149393076	17	2012											
LAMB2	3913	broad.mit.edu	37	chr3	49159423	49159423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtcagccactgcccccCggatggcaccctgggcaata	12	15	1	0			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr3:49159423C>T	uc003cwe.2	-	29	5176	c.4877G>A	c.(4876-4878)CGG>CAG	p.R1626Q	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1626	Potential.|Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.R1626P(1)		ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACTGCCCCCCGGATGGCACC	0.602													T	49159423	C	T	49159423	3	4	3	1	0	0	0	0	1	0	0	0	8611	652	23	1	535	1	LAMB2	3	49159423	Missense_Mutation	SNP	C	TCGA-BR-4183-01A-02D-1126-08	530069	49159423	148863007	18	2013											
ITIH1	3697	broad.mit.edu	37	chr3	52824909	52824909	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatgtgctggacagtcatcgGatgtcagcccggacgcacgg	14	11	2	0			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr3:52824909G>A	uc003dfs.2	+	20	2490	c.2466G>A	c.(2464-2466)CGG>CGA	p.R822R	ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Silent_p.R423R|ITIH1_uc010hmo.1_Silent_p.R376R|ITIH1_uc003dfu.2_Silent_p.R188R	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	822	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		ACAGTCATCGGATGTCAGCCC	0.632													A	52824909	G	A	52824909	2	1	3	1	0	0	0	0	0	0	0	1	7903	1161	41	4		4	ITIH1	3	52824909	Silent	SNP	G	TCGA-BR-4183-01A-02D-1126-08	3665486	52824909	145197521	19	2014											
TP63	8626	broad.mit.edu	37	chr3	189612028	189612028	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaaaatccctgagcaatttCgacatgcgatctggaagggc	11	9	1	2			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr3:189612028C>T	uc003fry.2	+	14	1869	c.1780C>T	c.(1780-1782)CGA>TGA	p.R594*	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Nonsense_Mutation_p.R500*|TP63_uc003fsd.2_3'UTR|TP63_uc010hzd.1_Nonsense_Mutation_p.R415*	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	594	SAM.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGAGCAATTTCGACATGCGAT	0.532									Hay-Wells_syndrome	HNSCC(45;0.13)			T	189612028	C	T	189612028	4	4	3	1	0	0	0	0	0	1	0	0	16389	876	31	1	1999	1	TP63	3	189612028	Nonsense_Mutation	SNP	C	TCGA-BR-4183-01A-02D-1126-08	136787119	189612028	8410402	20	2015											
PCDHB7	56129	broad.mit.edu	37	chr5	140553745	140553745	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaccgtgctggtctccgaCgtcaatgacaacgctcccgc	9	15	2	1			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr5:140553745C>T	uc003lit.2	+	1	1503	c.1329C>T	c.(1327-1329)GAC>GAT	p.D443D		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	443	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTCTCCGACGTCAATGACA	0.577													T	140553745	C	T	140553745	2	4	3	1	0	0	0	0	0	0	0	1	11547	535	19	1		1	PCDHB7	5	140553745	Silent	SNP	C	TCGA-BR-4183-01A-02D-1126-08		140553745	40361515	21	2016											
STK10	6793	broad.mit.edu	37	chr5	171520875	171520875	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagactggctgggtgccagCggggtggaaggtgactcctc	18	9	0	2			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr5:171520875C>T	uc003mbo.1	-	9	1395	c.1095G>A	c.(1093-1095)CCG>CCA	p.P365P		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	365							ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGGTGCCAGCGGGGTGGAAG	0.592													T	171520875	C	T	171520875	2	4	3	1	0	0	0	0	0	0	0	1	15285	755	27	1		1	STK10	5	171520875	Silent	SNP	C	TCGA-BR-4183-01A-02D-1126-08	30967130	171520875	9394385	22	2017											
CUL9	23113	broad.mit.edu	37	chr6	43188240	43188243	+	Frame_Shift_Del	DEL	TTGT	TTGT	-													aactcggatcgagcagaaccTtgttttgaattgcacctgcc							TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr6:43188239_43188242CTTGT>C	uc003ouk.3	+	31	6400_6403	c.6325_6328CTTGT>C	c.(6325-6330)cttgttfs	p.L2109fs	CUL9_uc003oul.3_Frame_Shift_Del_p.L2081fs|CUL9_uc010jyk.3_Frame_Shift_Del_p.L1261fs|CUL9_uc003oun.3_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	2109					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CGAGCAGAACCTTGTTTTGAATTG	0.588													-	43188243	TTGT	-	43188240	7	5	3	1	0	1	0	1	0	0	0	0	4061	1609	56	0	6448	0	CUL9	6	43188240	Frame_Shift_Del	DEL	TTGT	TCGA-BR-4183-01A-02D-1126-08		43188240	127926827	23	2018											
RAET1E	135250	broad.mit.edu	37	chr6	150211239	150211239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accagggctgtccaggtctgGacaatgattttatagtgaag	12	7	1	2			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr6:150211239G>A	uc003qnl.1	-	2	188	c.128C>T	c.(127-129)TCC>TTC	p.S43F	uc003qni.1_Intron|RAET1E_uc003qnj.2_Missense_Mutation_p.S43F|RAET1E_uc003qnk.1_Intron|RAET1E_uc010kih.1_RNA	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E precursor	43	MHC class I alpha-1 like.|Extracellular (Potential).				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TCCAGGTCTGGACAATGATTT	0.478													A	150211239	G	A	150211239	3	1	3	1	0	0	0	0	1	0	0	0	12999	1174	41	4	675	4	RAET1E	6	150211239	Missense_Mutation	SNP	G	TCGA-BR-4183-01A-02D-1126-08	107022999	150211239	20903828	24	2019											
CRHR2	1395	broad.mit.edu	37	chr7	30695259	30695259	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgacaggtcgtcctccccGggattgacgaagaagagcat	13	10	0	4			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr7:30695259G>A	uc003tbn.2	-	10	1234	c.990C>T	c.(988-990)CCC>CCT	p.P330P	CRHR2_uc010kvw.1_Silent_p.P330P|CRHR2_uc010kvx.1_Silent_p.P329P|CRHR2_uc010kvy.1_Silent_p.P166P|CRHR2_uc003tbo.2_Silent_p.P316P|CRHR2_uc003tbp.2_Silent_p.P357P	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	330	Helical; Name=6; (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(2)|ovary(1)|skin(1)	4						CGTCCTCCCCGGGATTGACGA	0.602													A	30695259	G	A	30695259	2	1	3	1	0	0	0	0	0	0	0	1	3872	1103	39	1		1	CRHR2	7	30695259	Silent	SNP	G	TCGA-BR-4183-01A-02D-1126-08		30695259	128443404	25	2020											
LRRC4	64101	broad.mit.edu	37	chr7	127670639	127670639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgaggtagacgaacgggaGcaggatggcattccaggtgt	17	7	0	2			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr7:127670639G>A	uc003vmk.2	-	2	192	c.55C>T	c.(55-57)CTC>TTC	p.L19F	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	19						cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		ACGAACGGGAGCAGGATGGCA	0.602													A	127670639	G	A	127670639	3	1	3	1	0	0	0	0	1	0	0	0	8997	971	34	2	1910	2	LRRC4	7	127670639	Missense_Mutation	SNP	G	TCGA-BR-4183-01A-02D-1126-08	96975380	127670639	31468024	26	2021											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138447716	138447716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggaagctttgtttcaaggCctgctggttctggttggctt	13	7	2	0			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr7:138447716C>T	uc003vuf.2	-	5	584	c.346G>A	c.(346-348)GCC>ACC	p.A116T	ATP6V0A4_uc003vug.2_Missense_Mutation_p.A116T|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.A116T	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	116	Cytoplasmic (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1						TGTTTCAAGGCCTGCTGGTTC	0.443													T	138447716	C	T	138447716	3	4	3	1	0	0	0	0	1	0	0	0	1170	739	26	2	2244	2	ATP6V0A4	7	138447716	Missense_Mutation	SNP	C	TCGA-BR-4183-01A-02D-1126-08	10777077	138447716	20690947	27	2022											
RANBP6	26953	broad.mit.edu	37	chr9	6015394	6015394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaagccgtcgtagcagtgCggcagccatttgtctcacct	10	13	1	0			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr9:6015394C>T	uc003zjr.2	-	1	225	c.214G>A	c.(214-216)GCA>ACA	p.A72T	RANBP6_uc011lmf.1_Intron|RANBP6_uc003zjs.2_Intron	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	72					protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CGTAGCAGTGCGGCAGCCATT	0.458													T	6015394	C	T	6015394	3	4	3	1	0	0	0	0	1	0	0	0	13031	768	27	1	3107	1	RANBP6	9	6015394	Missense_Mutation	SNP	C	TCGA-BR-4183-01A-02D-1126-08		6015394	135198037	28	2023											
MUC6	4588	broad.mit.edu	37	chr11	1016412	1016414	+	In_Frame_Del	DEL	GAG	GAG	-													cagaaggactgggagaaaatGaggaggacagctgattagtt							TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr11:1016411_1016413TGAG>T	uc001lsw.2	-	30	6439_6441	c.6388_6390CTCA>A	c.(6388-6390)tca>A	p.S2130del		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	2130	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.S2130delS(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGGAGAAAATGAGGAGGACAGC	0.522													-	1016414	GAG	-	1016412	7	5	3	1	0	1	0	1	0	0	0	0	9980	1294	45	0	942	0	MUC6	11	1016412	In_Frame_Del	DEL	GAG	TCGA-BR-4183-01A-02D-1126-08		1016412	133990104	29	2024											
OSBPL5	114879	broad.mit.edu	37	chr11	3114795	3114795	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgctcctccagcggcacCgtgtgctgcctcagcctctg	11	17	3	0			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr11:3114795C>T	uc001lxk.2	-	17	2066	c.1908G>A	c.(1906-1908)ACG>ACA	p.T636T	OSBPL5_uc010qxq.1_Silent_p.T547T|OSBPL5_uc009ydw.2_Silent_p.T568T|OSBPL5_uc001lxl.2_Silent_p.T568T|OSBPL5_uc009ydx.2_Silent_p.T660T|OSBPL5_uc001lxj.2_Silent_p.T90T	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	oxysterol-binding protein-like protein 5 isoform	636					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCAGCGGCACCGTGTGCTGCC	0.652													T	3114795	C	T	3114795	2	4	3	1	0	0	0	0	0	0	0	1	11280	639	23	1		1	OSBPL5	11	3114795	Silent	SNP	C	TCGA-BR-4183-01A-02D-1126-08	2098383	3114795	131891721	30	2025											
SOX6	55553	broad.mit.edu	37	chr11	16340111	16340111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacactggtcattatctcaCggtcccgactcccttcgtca	6	15	3	0			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr11:16340111C>T	uc001mme.2	-	3	398	c.365G>A	c.(364-366)CGT>CAT	p.R122H	SOX6_uc001mmd.2_Missense_Mutation_p.R112H|SOX6_uc001mmf.2_Missense_Mutation_p.R109H|SOX6_uc001mmg.2_Missense_Mutation_p.R109H|SOX6_uc001mmh.1_RNA|SOX6_uc009ygs.2_RNA|SOX6_uc001mmi.3_Missense_Mutation_p.R109H|SOX6_uc001mmj.2_Missense_Mutation_p.R109H	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	109					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						CATTATCTCACGGTCCCGACT	0.453													T	16340111	C	T	16340111	3	4	3	1	0	0	0	0	1	0	0	0	14955	536	19	1	2258	1	SOX6	11	16340111	Missense_Mutation	SNP	C	TCGA-BR-4183-01A-02D-1126-08	13225316	16340111	118666405	31	2026											
OR5R1	219479	broad.mit.edu	37	chr11	56184928	56184928	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgatttgatttgggctGtaggtacataaagatcagtg	14	3	1	3			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr11:56184928G>T	uc010rji.1	-	1	781	c.781C>A	c.(781-783)CAG>AAG	p.Q261K		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GATTTGGGCTGTAGGTACATA	0.448													T	56184928	G	T	56184928	3	4	3	1	0	0	0	0	1	0	0	0	11180	1386	48	5	195	5	OR5R1	11	56184928	Missense_Mutation	SNP	G	TCGA-BR-4183-01A-02D-1126-08	39844817	56184928	78821588	32	2027											
EHBP1L1	254102	broad.mit.edu	37	chr11	65350742	65350742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcccgagtactgatgaccCgtaagacagaaattatagtt	10	8	0	4			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr11:65350742C>T	uc001oeo.3	+	9	2864	c.2599C>T	c.(2599-2601)CGT>TGT	p.R867C	EHBP1L1_uc001oep.1_Intron	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	867	Glu-rich.									central_nervous_system(1)	1						ACTGATGACCCGTAAGACAGA	0.557													T	65350742	C	T	65350742	3	4	3	1	0	0	0	0	1	0	0	0	4976	652	23	1	2633	1	EHBP1L1	11	65350742	Missense_Mutation	SNP	C	TCGA-BR-4183-01A-02D-1126-08	9165814	65350742	69655774	33	2028											
ACSM4	341392	broad.mit.edu	37	chr12	7475048	7475048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgcggcactgcttgaccGgaggggagccactcaaccca	13	14	2	1			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr12:7475048G>A	uc001qsx.1	+	7	1036	c.1036G>A	c.(1036-1038)GGA>AGA	p.G346R		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	346					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding				0						CTGCTTGACCGGAGGGGAGCC	0.498													A	7475048	G	A	7475048	3	1	3	1	0	0	0	0	1	0	0	0	186	1117	39	1	1062	1	ACSM4	12	7475048	Missense_Mutation	SNP	G	TCGA-BR-4183-01A-02D-1126-08		7475048	126376847	34	2029											
ADAMTS20	80070	broad.mit.edu	37	chr12	43833818	43833818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgatttctttttttgacGtacttagaagaaaatttcca	5	6	1	4			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr12:43833818G>A	uc010skx.1	-	17	2345	c.2345C>T	c.(2344-2346)ACG>ATG	p.T782M	ADAMTS20_uc001rno.1_5'Flank|ADAMTS20_uc001rnp.1_5'Flank	NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	782	Spacer.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTTTTTTGACGTACTTAGAAG	0.313													A	43833818	G	A	43833818	3	1	3	1	0	0	0	0	1	0	0	0	266	1145	40	1	3478	1	ADAMTS20	12	43833818	Missense_Mutation	SNP	G	TCGA-BR-4183-01A-02D-1126-08	36358770	43833818	90018077	35	2030											
ANO6	196527	broad.mit.edu	37	chr12	45795715	45795715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgactccacagacagccacGtccatcacggcctccatcat	6	18	2	2			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr12:45795715G>A	uc001roo.2	+	13	1859	c.1524G>A	c.(1522-1524)ACG>ACA	p.T508T	ANO6_uc010sld.1_Silent_p.T508T|ANO6_uc010sle.1_Silent_p.T508T|ANO6_uc010slf.1_Silent_p.T529T|ANO6_uc010slg.1_Silent_p.T490T	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	508	Extracellular (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						AGACAGCCACGTCCATCACGG	0.403													A	45795715	G	A	45795715	2	1	3	1	0	0	0	0	0	0	0	1	701	1132	40	1		1	ANO6	12	45795715	Silent	SNP	G	TCGA-BR-4183-01A-02D-1126-08	1961897	45795715	88056180	36	2031											
FRY	10129	broad.mit.edu	37	chr13	32745282	32745282	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcctgctccgggaagtaaatGatatgcatcacacactcctt	7	12	1	1			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr13:32745282G>A	uc001utx.2	+	18	2522	c.2026G>A	c.(2026-2028)GAT>AAT	p.D676N	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	676					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGAAGTAAATGATATGCATCA	0.438													A	32745282	G	A	32745282	3	1	3	1	0	0	0	0	1	0	0	0	6063	1290	45	4	2096	4	FRY	13	32745282	Missense_Mutation	SNP	G	TCGA-BR-4183-01A-02D-1126-08		32745282	82424596	37	2032											
WDHD1	11169	broad.mit.edu	37	chr14	55474071	55474071	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcgttgcatttttgtagcAgtggccaactaatagcacat	8	9	0	0			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr14:55474071A>C	uc001xbm.1	-	7	605	c.527T>G	c.(526-528)CTG>CGG	p.L176R	WDHD1_uc001xbn.1_Missense_Mutation_p.L53R	NM_007086	NP_009017	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	176						cytoplasm|nucleoplasm	DNA binding			skin(1)	1						TTTTTGTAGCAGTGGCCAACT	0.318													C	55474071	A	C	55474071	3	2	3	1	0	0	0	0	1	0	0	0	17268	188	7	5	2942	5	WDHD1	14	55474071	Missense_Mutation	SNP	A	TCGA-BR-4183-01A-02D-1126-08		55474071	51875469	38	2033											
OTX2	5015	broad.mit.edu	37	chr14	57268588	57268588	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagttaaaacccaagcttgaAgctccatatccctgggtgga	10	10	0	1			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr14:57268588A>C	uc001xcp.2	-	3	906	c.735T>G	c.(733-735)GCT>GCG	p.A245A	OTX2_uc010aou.2_Silent_p.A245A|OTX2_uc001xcq.2_Silent_p.A253A	NM_172337	NP_758840	P32243	OTX2_HUMAN	orthodenticle homeobox 2 isoform b	245					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			ovary(1)	1	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CCAAGCTTGAAGCTCCATATC	0.493													C	57268588	A	C	57268588	2	2	3	1	0	0	0	0	0	0	0	1	11321	59	3	5		5	OTX2	14	57268588	Silent	SNP	A	TCGA-BR-4183-01A-02D-1126-08	1794517	57268588	50080952	39	2034											
SIX6	4990	broad.mit.edu	37	chr14	60976532	60976532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactgcttcaaggagcgcaCgcggcacctgctacgcgagt	12	14	1	0			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr14:60976532C>T	uc001xfa.3	+	1	595	c.416C>T	c.(415-417)ACG>ATG	p.T139M		NM_007374	NP_031400	O95475	SIX6_HUMAN	SIX homeobox 6	139	Homeobox.				organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.088)		AAGGAGCGCACGCGGCACCTG	0.607													T	60976532	C	T	60976532	3	4	3	1	0	0	0	0	1	0	0	0	14351	536	19	1	418	1	SIX6	14	60976532	Missense_Mutation	SNP	C	TCGA-BR-4183-01A-02D-1126-08	3707944	60976532	46373008	40	2035											
FLRT2	23768	broad.mit.edu	37	chr14	86088177	86088177	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggacgaattccccatgaacCttcccaagaatgtcagagtt	8	11	1	3	rs117507441	byFrequency	TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr14:86088177C>A	uc001xvr.2	+	2	1086	c.319C>A	c.(319-321)CTT>ATT	p.L107I	FLRT2_uc010atd.2_Missense_Mutation_p.L107I	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	107	Extracellular (Potential).|LRR 2.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CCCCATGAACCTTCCCAAGAA	0.473													A	86088177	C	A	86088177	3	1	3	1	0	0	0	0	1	0	0	0	5939	681	24	5	321	5	FLRT2	14	86088177	Missense_Mutation	SNP	C	TCGA-BR-4183-01A-02D-1126-08	25111645	86088177	21261363	41	2036											
ATP10A	57194	broad.mit.edu	37	chr15	25972389	25972389	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttttctttatacagcccGgcctttttcccgttgtcatg	8	11	2	0			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr15:25972389G>A	uc010ayu.2	-	4	871	c.765C>T	c.(763-765)GCC>GCT	p.A255A		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	255	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TATACAGCCCGGCCTTTTTCC	0.572													A	25972389	G	A	25972389	2	1	3	1	0	0	0	0	0	0	0	1	1116	1103	39	1		1	ATP10A	15	25972389	Silent	SNP	G	TCGA-BR-4183-01A-02D-1126-08		25972389	76559003	42	2037											
CIB2	10518	broad.mit.edu	37	chr15	78398116	78398116	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccttggcaatcatgtcctcGaagtcagcaaagcccagctt	9	13	2	0			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr15:78398116G>A	uc002bdb.1	-	5	828	c.507C>T	c.(505-507)TTC>TTT	p.F169F	CIB2_uc002bdc.1_Silent_p.F126F|CIB2_uc010ums.1_Silent_p.F169F	NM_006383	NP_006374	O75838	CIB2_HUMAN	DNA-dependent protein kinase catalytic	169	EF-hand 3.						calcium ion binding				0						TCATGTCCTCGAAGTCAGCAA	0.617													A	78398116	G	A	78398116	2	1	3	1	0	0	0	0	0	0	0	1	3421	1049	37	1		1	CIB2	15	78398116	Silent	SNP	G	TCGA-BR-4183-01A-02D-1126-08	52425727	78398116	24133276	43	2038											
BNC1	646	broad.mit.edu	37	chr15	83933367	83933367	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggaggctagaactcctgtgActgcagctctcgatgaaagc	13	10	1	3			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr15:83933367A>T	uc002bjt.1	-	4	724	c.636T>A	c.(634-636)AGT>AGA	p.S212R	BNC1_uc010uos.1_Missense_Mutation_p.S200R	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	212					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						AACTCCTGTGACTGCAGCTCT	0.463													T	83933367	A	T	83933367	3	4	3	1	0	0	0	0	1	0	0	0	1474	272	10	5	2356	5	BNC1	15	83933367	Missense_Mutation	SNP	A	TCGA-BR-4183-01A-02D-1126-08	5535251	83933367	18598025	44	2039											
OR1E1	8387	broad.mit.edu	37	chr17	3301695	3301695	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagatgctggtttgattttGtcccatcatgctctgtctcc	9	10	3	2			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr17:3301695G>T	uc002fvj.1	-	1	10	c.10C>A	c.(10-12)CAA>AAA	p.Q4K		NM_003553	NP_003544	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E,	4	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GTTTGATTTTGTCCCATCATG	0.433													T	3301695	G	T	3301695	3	4	3	1	0	0	0	0	1	0	0	0	10954	1386	48	5	938	5	OR1E1	17	3301695	Missense_Mutation	SNP	G	TCGA-BR-4183-01A-02D-1126-08		3301695	77893515	45	2040											
TP53	7157	broad.mit.edu	37	chr17	7578370	7578370	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccagccccagctgctcaCcatcgctatctgagcagcgc	8	18	3	1			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr17:7578370C>T	uc002gim.2	-	5	753	c.559_splice	c.e5+1	p.G187_splice	TP53_uc002gig.1_Splice_Site_p.G187_splice|TP53_uc002gih.2_Splice_Site_p.G187_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Intron|TP53_uc010cng.1_Intron|TP53_uc002gii.1_Intron|TP53_uc010cnh.1_Splice_Site_p.G187_splice|TP53_uc010cni.1_Splice_Site_p.G187_splice|TP53_uc002gij.2_Splice_Site_p.G187_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.G94_splice|TP53_uc002gio.2_Splice_Site_p.G55_splice|TP53_uc010vug.1_Splice_Site_p.G148_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(24)|p.0?(7)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCTGCTCACCATCGCTATC	0.632		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7578370	C	T	7578370	5	4	3	1	0	0	0	0	0	0	1	0	16378	521	18	4	738	4	TP53	17	7578370	Splice_Site	SNP	C	TCGA-BR-4183-01A-02D-1126-08	4276675	7578370	73616840	46	2041											
MYH2	4620	broad.mit.edu	37	chr17	10428137	10428137	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccatgcggttggcatgGttcagctggatttccatttc	12	10	1	0			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr17:10428137G>A	uc010coi.2	-	34	5036	c.4908C>T	c.(4906-4908)AAC>AAT	p.N1636N	uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.N1636N|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1636	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						GGTTGGCATGGTTCAGCTGGA	0.512													A	10428137	G	A	10428137	2	1	3	1	0	0	0	0	0	0	0	1	10035	1252	44	4		4	MYH2	17	10428137	Silent	SNP	G	TCGA-BR-4183-01A-02D-1126-08	2849767	10428137	70767073	47	2042											
MKS1	54903	broad.mit.edu	37	chr17	56293543	56293543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcttcaggatctcctgaCggtactgataatccaaagga	9	11	2	2			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr17:56293543C>T	uc002ivr.1	-	4	398	c.323G>A	c.(322-324)CGT>CAT	p.R108H	MKS1_uc010wnq.1_5'UTR|MKS1_uc002ivs.1_Missense_Mutation_p.R108H	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome type 1 protein isoform 1	108					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1						GATCTCCTGACGGTACTGATA	0.423													T	56293543	C	T	56293543	3	4	3	1	0	0	0	0	1	0	0	0	9609	536	19	1	1416	1	MKS1	17	56293543	Missense_Mutation	SNP	C	TCGA-BR-4183-01A-02D-1126-08	45865406	56293543	24901667	48	2043											
MPO	4353	broad.mit.edu	37	chr17	56350133	56350133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggccgtggtccctgctgcGctgcatgttcagagcaggca	15	12	1	1	rs142082076		TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr17:56350133G>A	uc002ivu.1	-	10	1945	c.1768C>T	c.(1768-1770)CGC>TGC	p.R590C		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	590					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)	TCCCTGCTGCGCTGCATGTTC	0.607													A	56350133	G	A	56350133	3	1	3	1	0	0	0	0	1	0	0	0	9732	1087	38	1	481	1	MPO	17	56350133	Missense_Mutation	SNP	G	TCGA-BR-4183-01A-02D-1126-08	56590	56350133	24845077	49	2044											
CEP192	55125	broad.mit.edu	37	chr18	13049261	13049261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactactcaagacattcatcCggtggacttaagtgctacta	7	10	2	1			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr18:13049261C>T	uc010xac.1	+	16	2551	c.2471C>T	c.(2470-2472)CCG>CTG	p.P824L	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.P349L|CEP192_uc002kru.2_RNA|CEP192_uc002krs.1_Missense_Mutation_p.P565L	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	824										ovary(4)|pancreas(1)	5						GACATTCATCCGGTGGACTTA	0.393													T	13049261	C	T	13049261	3	4	3	1	0	0	0	0	1	0	0	0	3251	652	23	1	2529	1	CEP192	18	13049261	Missense_Mutation	SNP	C	TCGA-BR-4183-01A-02D-1126-08		13049261	65027987	50	2045											
C19orf21	126353	broad.mit.edu	37	chr19	757262	757262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagggatgcccaccagggaCgtccaacatgggcactccgc	12	16	0	0			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr19:757262C>T	uc002lpo.2	+	2	399	c.316C>T	c.(316-318)CGT>TGT	p.R106C		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	hypothetical protein LOC126353	106										upper_aerodigestive_tract(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCAGGGACGTCCAACATG	0.662													T	757262	C	T	757262	3	4	3	1	0	0	0	0	1	0	0	0	1913	536	19	1	318	1	C19orf21	19	757262	Missense_Mutation	SNP	C	TCGA-BR-4183-01A-02D-1126-08		757262	58371721	51	2046											
RFX2	5990	broad.mit.edu	37	chr19	6026240	6026240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttggaggttttcaatcgcCatttcaagctaaagaaaatg	8	6	2	1			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr19:6026240C>T	uc002meb.2	-	6	800	c.531G>A	c.(529-531)ATG>ATA	p.M177I	RFX2_uc002mec.2_Intron	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						TTTCAATCGCCATTTCAAGCT	0.358													T	6026240	C	T	6026240	3	4	3	1	0	0	0	0	1	0	0	0	13263	594	21	4	1692	4	RFX2	19	6026240	Missense_Mutation	SNP	C	TCGA-BR-4183-01A-02D-1126-08	5268978	6026240	53102743	52	2047											
FBN3	84467	broad.mit.edu	37	chr19	8176646	8176646	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgctcctgggagacgcattCatccaggtctgcaggagatg	14	10	2	2			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr19:8176646C>A	uc002mjf.2	-	31	3991	c.3970G>T	c.(3970-3972)GAA>TAA	p.E1324*		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1324	EGF-like 20; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GAGACGCATTCATCCAGGTCT	0.632													A	8176646	C	A	8176646	4	1	3	1	0	0	0	0	0	1	0	0	5704	835	29	5	4591	5	FBN3	19	8176646	Nonsense_Mutation	SNP	C	TCGA-BR-4183-01A-02D-1126-08	2150406	8176646	50952337	53	2048											
ZNF43	7594	broad.mit.edu	37	chr19	21991815	21991815	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccacattcttcacatgtgtAgggtttctctccagtatgaa	8	10	3	1			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr19:21991815A>G	uc002nqj.2	-	4	1154	c.1024T>C	c.(1024-1026)TAC>CAC	p.Y342H	ZNF43_uc010ecv.2_Missense_Mutation_p.Y336H|ZNF43_uc002nql.2_Missense_Mutation_p.Y336H|ZNF43_uc002nqm.2_Missense_Mutation_p.Y336H|ZNF43_uc002nqk.2_Missense_Mutation_p.Y272H	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	342	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCACATGTGTAGGGTTTCTCT	0.383													G	21991815	A	G	21991815	3	3	3	1	0	0	0	0	1	0	0	0	17900	420	15	3	1409	3	ZNF43	19	21991815	Missense_Mutation	SNP	A	TCGA-BR-4183-01A-02D-1126-08	13815169	21991815	37137168	54	2049											
PSG8	440533	broad.mit.edu	37	chr19	43258502	43258502	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taccagagacttttactgtcAtggatttggagctttccttg	9	8	1	1			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr19:43258502A>T	uc002ouo.2	-	5	1324	c.1226T>A	c.(1225-1227)ATG>AAG	p.M409K	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.M248K|PSG8_uc002ouh.2_Missense_Mutation_p.M409K|PSG8_uc010ein.2_Missense_Mutation_p.M287K|PSG8_uc002ouj.3_Missense_Mutation_p.M191K|PSG8_uc002ouk.3_Missense_Mutation_p.M248K|PSG8_uc002oul.3_Missense_Mutation_p.M409K|PSG8_uc002oum.3_Missense_Mutation_p.M316K|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.M316K	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8 isoform	409	Ig-like C2-type 3.					extracellular region					0		Prostate(69;0.00899)				TTTTACTGTCATGGATTTGGA	0.458													T	43258502	A	T	43258502	3	4	3	1	0	0	0	0	1	0	0	0	12661	217	8	5	79	5	PSG8	19	43258502	Missense_Mutation	SNP	A	TCGA-BR-4183-01A-02D-1126-08	21266687	43258502	15870481	55	2050											
CACNG6	59285	broad.mit.edu	37	chr19	54502911	54502911	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaatctggcagctgcggtgAtagcagtgctgggcctggca	16	9	1	2			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr19:54502911A>G	uc002qct.2	+	3	1020	c.430A>G	c.(430-432)ATA>GTA	p.I144V	CACNG6_uc002qcu.2_Intron|CACNG6_uc002qcv.2_Intron	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	voltage-dependent calcium channel gamma-6	144	Helical; (Potential).					voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(2)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		AGCTGCGGTGATAGCAGTGCT	0.557													G	54502911	A	G	54502911	3	3	3	1	0	0	0	0	1	0	0	0	2561	333	12	3	440	3	CACNG6	19	54502911	Missense_Mutation	SNP	A	TCGA-BR-4183-01A-02D-1126-08	11244409	54502911	4626072	56	2051											
HNF4A	3172	broad.mit.edu	37	chr20	43019236	43019236	+	Frame_Shift_Del	DEL	A	A	-													caggagctccctcaaggatgAagaggttgtgcactgtgcgg							TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr20:43019236delA	uc010zwo.1	+	2	192	c.4delA	c.(4-6)AAGfs	p.K2fs	HNF4A_uc002xlt.2_Intron|HNF4A_uc002xlu.2_Intron|HNF4A_uc002xlv.2_Intron|uc002xlw.1_Intron|uc002xlx.2_Intron			P41235	HNF4A_HUMAN	Homo sapiens NR2A1 mRNA for hepatocyte nuclear factor 4, alpha, complete cds.	Error:Variant_position_missing_in_P41235_after_alignment					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTCAAGGATGAAGAGGTTGTG	0.607													-	43019236	A	-	43019236	7	5	3	1	0	1	0	1	0	0	0	0	7253	261	9	0		0	HNF4A	20	43019236	Frame_Shift_Del	DEL	A	TCGA-BR-4183-01A-02D-1126-08		43019236	20006284	57	2052											
DIDO1	11083	broad.mit.edu	37	chr20	61513050	61513050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataggccacctcttcccgctCggctgcagctgcttcaggag	11	15	2	0			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr20:61513050C>T	uc002ydr.1	-	16	4522	c.4258G>A	c.(4258-4260)GAG>AAG	p.E1420K	DIDO1_uc002yds.1_Missense_Mutation_p.E1420K	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1420					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					TCTTCCCGCTCGGCTGCAGCT	0.612													T	61513050	C	T	61513050	3	4	3	1	0	0	0	0	1	0	0	0	4522	893	31	1	2468	1	DIDO1	20	61513050	Missense_Mutation	SNP	C	TCGA-BR-4183-01A-02D-1126-08	18493814	61513050	1512470	58	2053											
UFD1L	7353	broad.mit.edu	37	chr22	19445627	19445627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgatggacactgccttGtcgggtttggtctccatcac	10	11	3	1			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr22:19445627G>A	uc002zpm.2	-	7	661	c.531C>T	c.(529-531)GAC>GAT	p.D177D	UFD1L_uc002zpo.2_Silent_p.D177D|UFD1L_uc011agy.1_Silent_p.D177D|UFD1L_uc002zpp.2_Silent_p.D130D	NM_005659	NP_005650	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1-like isoform A	177					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity				0	Colorectal(54;0.0993)					ACACTGCCTTGTCGGGTTTGG	0.547													A	19445627	G	A	19445627	2	1	3	1	0	0	0	0	0	0	0	1	16932	1368	48	4		4	UFD1L	22	19445627	Silent	SNP	G	TCGA-BR-4183-01A-02D-1126-08		19445627	31858939	59	2054											
PISD	23761	broad.mit.edu	37	chr22	32017095	32017095	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcattcccttcccgggtgAccagctggttcttgaaggag	12	12	2	2			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr22:32017095A>G	uc003alm.3	-	6	738	c.731T>C	c.(730-732)GTC>GCC	p.V244A	PISD_uc003alk.2_Missense_Mutation_p.V210A|PISD_uc003all.2_Missense_Mutation_p.V209A|PISD_uc011alr.1_Missense_Mutation_p.V209A|PISD_uc003aln.3_Missense_Mutation_p.V244A	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	244					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(2)|ovary(1)	3					Phosphatidylserine(DB00144)	TTCCCGGGTGACCAGCTGGTT	0.627											OREG0003530	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G	32017095	A	G	32017095	3	3	3	1	0	0	0	0	1	0	0	0	11946	275	10	3	510	3	PISD	22	32017095	Missense_Mutation	SNP	A	TCGA-BR-4183-01A-02D-1126-08	12571468	32017095	19287471	60	2055											
SREBF2	6721	broad.mit.edu	37	chr22	42271622	42271622	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcgaggactttaatcagaAtgtccttctgatgtcccccc	8	12	2	2			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chr22:42271622A>G	uc003bbi.2	+	7	1449	c.1280A>G	c.(1279-1281)AAT>AGT	p.N427S	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	427	Interaction with LMNA (By similarity).|Cytoplasmic (Potential).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4						TTTAATCAGAATGTCCTTCTG	0.532													G	42271622	A	G	42271622	3	3	3	1	0	0	0	0	1	0	0	0	15141	101	4	3	1306	3	SREBF2	22	42271622	Missense_Mutation	SNP	A	TCGA-BR-4183-01A-02D-1126-08	10254527	42271622	9032944	61	2056											
MXRA5	25878	broad.mit.edu	37	chrX	3229245	3229245	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgactctgactctcatctcGtccttcccgacctgattttc	5	15	3	3			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chrX:3229245G>A	uc004crg.3	-	7	7156	c.6999C>T	c.(6997-6999)GAC>GAT	p.D2333D		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2333	Ig-like C2-type 7.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTCTCATCTCGTCCTTCCCGA	0.532													A	3229245	G	A	3229245	2	1	3	1	0	0	0	0	0	0	0	1	10003	1136	40	1		1	MXRA5	23	3229245	Silent	SNP	G	TCGA-BR-4183-01A-02D-1126-08		3229245	152041315	62	2057											
SH3KBP1	30011	broad.mit.edu	37	chrX	19725084	19725084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgaatgccacctggcacCggcgcctccgtcgctcgcct	11	18	0	1			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chrX:19725084C>T	uc004czm.2	-	4	621	c.305G>A	c.(304-306)CGG>CAG	p.R102Q	SH3KBP1_uc004czl.2_Missense_Mutation_p.R65Q	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	102	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0						CACCTGGCACCGGCGCCTCCG	0.532													T	19725084	C	T	19725084	3	4	3	1	0	0	0	0	1	0	0	0	14255	652	23	1	1768	1	SH3KBP1	23	19725084	Missense_Mutation	SNP	C	TCGA-BR-4183-01A-02D-1126-08	16495839	19725084	135545476	63	2058											
MAGEE2	139599	broad.mit.edu	37	chrX	75004861	75004861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatctctgcgctacagtggCgtgcattctggcttaccaga	11	11	2	2			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chrX:75004861C>T	uc004ecj.1	-	1	211	c.26G>A	c.(25-27)CGC>CAC	p.R9H		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	9										ovary(1)|skin(1)	2						GCTACAGTGGCGTGCATTCTG	0.572													T	75004861	C	T	75004861	3	4	3	1	0	0	0	0	1	0	0	0	9186	768	27	1	1549	1	MAGEE2	23	75004861	Missense_Mutation	SNP	C	TCGA-BR-4183-01A-02D-1126-08	55279777	75004861	80265699	64	2059											
BRWD3	254065	broad.mit.edu	37	chrX	79975125	79975125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggtcattggtttgctgcCcaattacctgttctactacc	7	12	2	0			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chrX:79975125C>T	uc004edt.2	-	18	2170	c.1907G>A	c.(1906-1908)GGG>GAG	p.G636E	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.G232E|BRWD3_uc004edp.2_Missense_Mutation_p.G465E|BRWD3_uc004edq.2_Missense_Mutation_p.G232E|BRWD3_uc010nmj.1_Missense_Mutation_p.G232E|BRWD3_uc004edr.2_Missense_Mutation_p.G306E|BRWD3_uc004eds.2_Missense_Mutation_p.G232E|BRWD3_uc004edu.2_Missense_Mutation_p.G306E|BRWD3_uc004edv.2_Missense_Mutation_p.G232E|BRWD3_uc004edw.2_Missense_Mutation_p.G232E|BRWD3_uc004edx.2_Missense_Mutation_p.G232E|BRWD3_uc004edy.2_Missense_Mutation_p.G232E|BRWD3_uc004edz.2_Missense_Mutation_p.G306E|BRWD3_uc004eea.2_Missense_Mutation_p.G306E|BRWD3_uc004eeb.2_Missense_Mutation_p.G232E	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	636										ovary(4)	4						GGTTTGCTGCCCAATTACCTG	0.373													T	79975125	C	T	79975125	3	4	3	1	0	0	0	0	1	0	0	0	1526	623	22	4	3597	4	BRWD3	23	79975125	Missense_Mutation	SNP	C	TCGA-BR-4183-01A-02D-1126-08	4970264	79975125	75295435	65	2060											
NAP1L3	4675	broad.mit.edu	37	chrX	92926799	92926799	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacttattttctgtatttcTtgtttccataatgtttgcca	5	7	2	1			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chrX:92926799T>G	uc004efq.2	-	1	1810	c.1505A>C	c.(1504-1506)AAG>ACG	p.K502T	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	502					nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2						TCTGTATTTCTTGTTTCCATA	0.318													G	92926799	T	G	92926799	3	3	3	1	0	0	0	0	1	0	0	0	10158	1609	56	5	19	5	NAP1L3	23	92926799	Missense_Mutation	SNP	T	TCGA-BR-4183-01A-02D-1126-08	12951674	92926799	62343761	66	2061											
LAMP2	3920	broad.mit.edu	37	chrX	119575715	119575715	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaacttcccaggggggcatcCcagtagctgagattgttatt	12	9	0	1			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chrX:119575715C>G	uc004est.3	-	8	1143	c.963G>C	c.(961-963)TGG>TGC	p.W321C	LAMP2_uc004ess.3_Missense_Mutation_p.W321C|LAMP2_uc011mtz.1_Missense_Mutation_p.W210C|LAMP2_uc011mua.1_Missense_Mutation_p.W274C|LAMP2_uc010nqp.1_Missense_Mutation_p.W321C	NM_002294	NP_002285	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2 isoform	321	Lumenal (Potential).|Second lumenal domain.		W -> R (in DAND).		platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				ovary(1)	1						GGGGGGCATCCCAGTAGCTGA	0.378													G	119575715	C	G	119575715	3	3	3	1	0	0	0	0	1	0	0	0	8618	624	22	5	568	5	LAMP2	23	119575715	Missense_Mutation	SNP	C	TCGA-BR-4183-01A-02D-1126-08	26648916	119575715	35694845	67	2062											
FRMD7	90167	broad.mit.edu	37	chrX	131212786	131212786	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcagtgttaaagacagggTccatataaataaaagggaaa	10	5	1	1			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chrX:131212786T>C	uc004ewn.2	-	12	1437	c.1259A>G	c.(1258-1260)GAC>GGC	p.D420G	FRMD7_uc011muy.1_Missense_Mutation_p.D405G	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	420					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)					AAAGACAGGGTCCATATAAAT	0.383													C	131212786	T	C	131212786	3	2	3	1	0	0	0	0	1	0	0	0	6055	1667	58	3	889	3	FRMD7	23	131212786	Missense_Mutation	SNP	T	TCGA-BR-4183-01A-02D-1126-08	11637071	131212786	24057774	68	2063											
ARHGEF6	9459	broad.mit.edu	37	chrX	135764986	135764986	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatttgaaaataacataagGtaccgctcctctttttcctg	5	10	1	1			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chrX:135764986G>T	uc004fab.2	-	13	1872	c.1410C>A	c.(1408-1410)TAC>TAA	p.Y470*	ARHGEF6_uc011mwd.1_Nonsense_Mutation_p.Y343*|ARHGEF6_uc011mwe.1_Nonsense_Mutation_p.Y316*	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	470	PH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					ATAACATAAGGTACCGCTCCT	0.353													T	135764986	G	T	135764986	4	4	3	1	0	0	0	0	0	1	0	0	910	1256	44	5	960	5	ARHGEF6	23	135764986	Nonsense_Mutation	SNP	G	TCGA-BR-4183-01A-02D-1126-08	4552200	135764986	19505574	69	2064											
IDS	3423	broad.mit.edu	37	chrX	148568478	148568478	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccatcaactgtgaggcGgaatcaaaagggtcgaggta	14	8	2	1			TCGA-BR-4183-01A-02D-1126-08	TCGA-BR-4183-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e915c4-e7ca-40b9-9175-8967169c7019	f03b244a-cd1c-4101-b0fe-2ced7638bb2a	g.chrX:148568478G>A	uc011mxe.1	-	8	1356	c.1158C>T	c.(1156-1158)TCC>TCT	p.S386S	IDS_uc011mxd.1_Intron|IDS_uc011mxf.1_Silent_p.S296S|IDS_uc011mxg.1_Silent_p.S175S|IDS_uc010nsu.1_5'UTR|IDS_uc004fcw.3_Silent_p.S175S	NM_000202	NP_000193	P22304	IDS_HUMAN	iduronate-2-sulfatase isoform a precursor	386						lysosome	iduronate-2-sulfatase activity|metal ion binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACTGTGAGGCGGAATCAAAAG	0.433													A	148568478	G	A	148568478	2	1	3	1	0	0	0	0	0	0	0	1	7503	1103	39	1		1	IDS	23	148568478	Silent	SNP	G	TCGA-BR-4183-01A-02D-1126-08	12803492	148568478	6702082	70	2065											
NOC2L	26155	broad.mit.edu	37	chr1	883877	883877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccagcctcacccggtacGccttctcctgcaggttgaca	10	16	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:883877G>A	uc009vjq.3	-	12	1609	c.1550C>T	c.(1549-1551)gCg>gTg	p.A517V	NOC2L_uc001aby.4_Missense_Mutation_p.A314V|NOC2L_uc001abz.4_Missense_Mutation_p.A517V	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	517						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CACCCGGTACGCCTTCTCCTG	0.632													A	883877	G	A	883877	3	1	4	1	0	0	0	0	1	0	0	0	10513	1087	38	1	727	1	NOC2L	1	883877	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08		883877	248366744	1	2066											
KLHL17	339451	broad.mit.edu	37	chr1	897043	897043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgccagacccacgtgacGctgcacgacatcgaccctca	9	18	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:897043G>A	uc001aca.2	+	2	509	c.402G>A	c.(400-402)acG>acA	p.T134T	NOC2L_uc001abz.4_5'Flank|NOC2L_uc009vjq.3_5'Flank|NOC2L_uc009vjr.2_5'Flank|KLHL17_uc001acb.1_Silent_p.T10T|KLHL17_uc010nya.1_Silent_p.T10T|KLHL17_uc001acc.2_5'Flank|KLHL17_uc010nyb.1_5'Flank	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	Homo sapiens kelch-like 17 (Drosophila) (KLHL17), mRNA.	134	BTB.				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCCACGTGACGCTGCACGACA	0.667													A	897043	G	A	897043	2	1	4	1	0	0	0	0	0	0	0	1	8372	1074	38	1		1	KLHL17	1	897043	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	13166	897043	248353578	2	2067											
NADK	65220	broad.mit.edu	37	chr1	1693452	1693452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagtggtcaccgggcatgGcccatgaagagagcgtgtcc	14	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:1693452G>A	uc001aic.3	-	2	424	c.202C>T	c.(202-204)Cca>Tca	p.P68S	NADK_uc001aid.4_Missense_Mutation_p.P68S|NADK_uc001aie.3_Missense_Mutation_p.P68S|NADK_uc009vkx.1_5'UTR	NM_023018	NP_075394	O95544	NADK_HUMAN	Homo sapiens NAD kinase (NADK), transcript variant 1, mRNA.	68					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ kinase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		ACCGGGCATGGCCCATGAAGA	0.602													A	1693452	G	A	1693452	3	1	4	1	0	0	0	0	1	0	0	0	10137	1203	42	2	1178	2	NADK	1	1693452	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	796409	1693452	247557169	3	2068											
MMEL1	79258	broad.mit.edu	37	chr1	2527522	2527522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctccacaaacactgtccGcaccttgtcaatgagttctc	6	15	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:2527522G>A	uc001ajy.2	-	14	1640	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	476					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		AACACTGTCCGCACCTTGTCA	0.597													A	2527522	G	A	2527522	3	1	4	1	0	0	0	0	1	0	0	0	9646	1086	38	1	953	1	MMEL1	1	2527522	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	834070	2527522	246723099	4	2069											
TP73	7161	broad.mit.edu	37	chr1	3624161	3624161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaccagatgagcagccgcGcggcctcggccagcccctac	13	17	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:3624161G>A	uc001akp.3	+	3	345	c.235G>A	c.(235-237)Gcg>Acg	p.A79T	TP73_uc021ofb.1_Missense_Mutation_p.A79T|TP73_uc021ofc.1_Missense_Mutation_p.A79T|TP73_uc021ofd.1_Missense_Mutation_p.A79T|TP73_uc021ofe.1_Missense_Mutation_p.A79T|TP73_uc021off.1_Missense_Mutation_p.A79T|TP73_uc010nzj.2_Missense_Mutation_p.A30T|TP73_uc021ofg.1_Missense_Mutation_p.A30T|TP73_uc021ofh.1_Missense_Mutation_p.A30T|TP73_uc021ofi.1_Missense_Mutation_p.A30T|TP73_uc001akr.3_Missense_Mutation_p.A30T|TP73_uc009vlk.2_Missense_Mutation_p.A30T|TP73_uc001aks.3_Missense_Mutation_p.A30T|TP73_uc009vll.3_Missense_Mutation_p.A8T|TP73_uc010nzk.2_Missense_Mutation_p.A8T	NM_005427	NP_001191121	O15350	P73_HUMAN	Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.	79					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GAGCAGCCGCGCGGCCTCGGC	0.677													A	3624161	G	A	3624161	3	1	4	1	0	0	0	0	1	0	0	0	16390	1087	38	1	288	1	TP73	1	3624161	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1096639	3624161	245626460	5	2070											
RNF207	388591	broad.mit.edu	37	chr1	6278394	6278394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagagtctacagaacacGcacgacgacagcaggaacaa	10	11	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:6278394G>A	uc001amg.3	+	16	1872	c.1698G>A	c.(1696-1698)acG>acA	p.T566T	RNF207_uc010nzp.1_Non-coding_Transcript	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN	Homo sapiens ring finger protein 207 (RNF207), mRNA.	566						intracellular	zinc ion binding	p.T566M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|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;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TACAGAACACGCACGACGACA	0.592													A	6278394	G	A	6278394	2	1	4	1	0	0	0	0	0	0	0	1	13474	1074	38	1		1	RNF207	1	6278394	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2654233	6278394	242972227	6	2071											
GPR153	387509	broad.mit.edu	37	chr1	6311422	6311422	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctgactcctcgtcgttggCcatgagggccatgcacttct	11	13	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:6311422C>A	uc001amp.2	-	3	1215	c.955G>T	c.(955-957)Gcc>Tcc	p.A319S		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	Homo sapiens G protein-coupled receptor 153 (GPR153), mRNA.	319						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		TCGTCGTTGGCCATGAGGGCC	0.637													A	6311422	C	A	6311422	3	1	4	1	0	0	0	0	1	0	0	0	6659	739	26	5	886	5	GPR153	1	6311422	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	33028	6311422	242939199	7	2072											
NOL9	79707	broad.mit.edu	37	chr1	6593377	6593378	+	Frame_Shift_Del	DEL	CT	CT	-													gtgttgacgatgagaggggaCtctctcttgtaagcgctgaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:6593376_6593377ACT>A	uc001ans.3	-	6	1296_1297	c.1200_1201AGT>T	c.(1198-1203)gagtccfs	p.E400fs	NOL9_uc010nzs.2_Non-coding_Transcript	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	Homo sapiens nucleolar protein 9 (NOL9), mRNA.	400					maturation of 5.8S rRNA	nucleolus	ATP binding|RNA binding|polynucleotide 5'-hydroxyl-kinase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		ATGAGAGGGGACTCTCTCTTGT	0.431													-	6593378	CT	-	6593377	7	5	4	1	0	1	0	1	0	0	0	0	10528	564	20	0	932	0	NOL9	1	6593377	Frame_Shift_Del	DEL	CT	TCGA-BR-4184-01A-01D-1126-08	281955	6593377	242657244	8	2073											
ZBTB48	3104	broad.mit.edu	37	chr1	6642155	6642155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggaggatgatggggatgGcgattacatgtctgagcctg	17	5	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:6642155G>A	uc009vmc.2	+	2	851	c.728G>A	c.(727-729)gGc>gAc	p.G243D	ZBTB48_uc001anx.3_Missense_Mutation_p.G243D|ZBTB48_uc009vmd.2_Missense_Mutation_p.G243D	NM_005341	NP_005332	P10074	ZBT48_HUMAN	Homo sapiens zinc finger and BTB domain containing 48 (ZBTB48), mRNA.	243						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GATGGGGATGGCGATTACATG	0.567													A	6642155	G	A	6642155	3	1	4	1	0	0	0	0	1	0	0	0	17546	1203	42	2	734	2	ZBTB48	1	6642155	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	48778	6642155	242608466	9	2074											
PHF13	148479	broad.mit.edu	37	chr1	6680350	6680350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggaaagcaggtggtgttccGagatgaggacagcactggca	17	7	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:6680350G>A	uc001aob.4	+	2	1000	c.629G>A	c.(628-630)cGa>cAa	p.R210Q		NM_153812	NP_722519	Q86YI8	PHF13_HUMAN	Homo sapiens PHD finger protein 13 (PHF13), mRNA.	210					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	p.R210L(2)|p.R210*(1)		endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|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;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GTGGTGTTCCGAGATGAGGAC	0.507													A	6680350	G	A	6680350	3	1	4	1	0	0	0	0	1	0	0	0	11824	1058	37	1	639	1	PHF13	1	6680350	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	38195	6680350	242570271	10	2075											
DNAJC11	55735	broad.mit.edu	37	chr1	6713014	6713014	+	Splice_Site	DEL	A	A	-													tgtcgctgtcaagggtgcctAaaaatggtatttgctggtaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:6713013_6713013TA>T	uc001aof.2	-	6	614	c.508_splice	c.e6-1	p.A170_splice	DNAJC11_uc001aog.2_Splice_Site_p.A170_splice|DNAJC11_uc010nzu.1_Splice_Site_p.A80_splice	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	170					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGGGTGCCTAAAAATGGTA	0.488													-	6713014	A	-	6713014	8	5	4	1	0	1	0	1	0	0	1	0	4630	377	13	0		0	DNAJC11	1	6713014	Splice_Site	DEL	A	TCGA-BR-4184-01A-01D-1126-08	32664	6713014	242537607	11	2076											
CAMTA1	23261	broad.mit.edu	37	chr1	7700554	7700554	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctgctccatcaacaccgAcaagaaggagtgggcgaaat	10	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:7700554A>C	uc001aoi.3	+	6	812	c.605A>C	c.(604-606)gAc>gCc	p.D202A		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.T201T(1)|p.D202N(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ATCAACACCGACAAGAAGGAG	0.627			T	WWTR1	epitheliod hemangioendothelioma								C	7700554	A	C	7700554	3	2	4	1	0	0	0	0	1	0	0	0	2613	275	10	5	631	5	CAMTA1	1	7700554	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	987540	7700554	241550067	12	2077											
CAMTA1	23261	broad.mit.edu	37	chr1	7797322	7797322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtcttctagatgtgggCgtgtgccctagggcacttgg	14	11	2	1	rs149702154		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:7797322C>T	uc001aoi.3	+	14	3557	c.3350C>T	c.(3349-3351)gCg>gTg	p.A1117V	CAMTA1_uc010nzv.1_Missense_Mutation_p.A204V|CAMTA1_uc001aok.4_Missense_Mutation_p.A160V|CAMTA1_uc001aoj.3_Missense_Mutation_p.A73V	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TAGATGTGGGCGTGTGCCCTA	0.547			T	WWTR1	epitheliod hemangioendothelioma								T	7797322	C	T	7797322	3	4	4	1	0	0	0	0	1	0	0	0	2613	768	27	1	3408	1	CAMTA1	1	7797322	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	96768	7797322	241453299	13	2078											
TNFRSF9	3604	broad.mit.edu	37	chr1	7993308	7993308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacagcaggaagagcaacGcagtcgacgtcagcgcaaga	13	10	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:7993308G>A	uc001aot.3	-	7	854	c.593C>T	c.(592-594)gCg>gTg	p.A198V	TRNA_Pseudo_uc021ofs.1_5'Flank	NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	198					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGAGCAACGCAGTCGACGT	0.448													A	7993308	G	A	7993308	3	1	4	1	0	0	0	0	1	0	0	0	16297	1087	38	1	182	1	TNFRSF9	1	7993308	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	195986	7993308	241257313	14	2079											
RERE	473	broad.mit.edu	37	chr1	8425885	8425885	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactcacagaattcactggaCgggggtctggagggtgtgtt	15	7	3	1	rs139440766		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:8425885C>T	uc001ape.3	-	13	2244	c.1434G>A	c.(1432-1434)ccG>ccA	p.P478P	RERE_uc001apf.3_Silent_p.P478P|RERE_uc010nzx.1_Silent_p.P210P|RERE_uc001apd.3_5'UTR	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	478					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ATTCACTGGACGGGGGTCTGG	0.637													T	8425885	C	T	8425885	2	4	4	1	0	0	0	0	0	0	0	1	13231	523	19	1		1	RERE	1	8425885	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	432577	8425885	240824736	15	2080											
CA6	765	broad.mit.edu	37	chr1	9005999	9005999	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgggtggccaggcccaGcatgtgtctgactggaccta	14	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:9005999G>A	uc001apm.3	+	0	78	c.54G>A	c.(52-54)caG>caA	p.Q18Q	CA6_uc021ofu.1_Non-coding_Transcript|CA6_uc009vmn.3_Silent_p.Q18Q	NM_001215	NP_001206	P23280	CAH6_HUMAN	Homo sapiens carbonic anhydrase VI (CA6), mRNA.	18					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGGCCCAGCATGTGTCTG	0.562													A	9005999	G	A	9005999	2	1	4	1	0	0	0	0	0	0	0	1	2521	962	34	2		2	CA6	1	9005999	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	580114	9005999	240244622	16	2081											
SLC2A7	155184	broad.mit.edu	37	chr1	9063462	9063462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttctcttggcaaaaatgCggtttatctccacaaatgtt	7	8	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:9063462C>T	uc009vmo.1	-	11	1436	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	479						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GGCAAAAATGCGGTTTATCTC	0.473													T	9063462	C	T	9063462	3	4	4	1	0	0	0	0	1	0	0	0	14550	768	27	1	106	1	SLC2A7	1	9063462	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	57463	9063462	240187159	17	2082											
SLC2A5	6518	broad.mit.edu	37	chr1	9097693	9097693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttcagttcctccttttcCgggtacacttcagacacctt	5	14	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:9097693C>T	uc001apo.3	-	11	1750	c.1458G>A	c.(1456-1458)ccG>ccA	p.P486P	SLC2A5_uc010nzy.2_Silent_p.P427P|SLC2A5_uc010nzz.2_Silent_p.P371P|SLC2A5_uc010oaa.2_Silent_p.P442P	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	486					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCTTTTCCGGGTACACTT	0.507													T	9097693	C	T	9097693	2	4	4	1	0	0	0	0	0	0	0	1	14548	639	23	1		1	SLC2A5	1	9097693	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	34231	9097693	240152928	18	2083											
H6PD	9563	broad.mit.edu	37	chr1	9324910	9324910	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgtggtacatggactaCgacgccttcctgggatgagg	15	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:9324910C>T	uc001apt.3	+	4	2631	c.2358C>T	c.(2356-2358)taC>taT	p.Y786Y		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	786	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	ACATGGACTACGACGCCTTCC	0.667													T	9324910	C	T	9324910	2	4	4	1	0	0	0	0	0	0	0	1	6936	547	19	1		1	H6PD	1	9324910	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	227217	9324910	239925711	19	2084											
UBE4B	10277	broad.mit.edu	37	chr1	10155571	10155571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagttctctcagcagctcGccctctaatagccttgaaac	7	14	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:10155571G>A	uc021ogc.1	+	2	952	c.264G>A	c.(262-264)tcG>tcA	p.S88S	UBE4B_uc001aqs.4_Silent_p.S88S|UBE4B_uc001aqr.4_Silent_p.S88S|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	88					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TCAGCAGCTCGCCCTCTAATA	0.468													A	10155571	G	A	10155571	2	1	4	1	0	0	0	0	0	0	0	1	16880	1074	38	1		1	UBE4B	1	10155571	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	830661	10155571	239095050	20	2085											
UBE4B	10277	broad.mit.edu	37	chr1	10197233	10197233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagttgccgtcgctatatccGcagactccgggctatccggg	12	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:10197233G>A	uc021ogc.1	+	17	3174	c.2486G>A	c.(2485-2487)cGc>cAc	p.R829H	UBE4B_uc001aqs.4_Missense_Mutation_p.R778H|UBE4B_uc001aqr.4_Missense_Mutation_p.R649H|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Missense_Mutation_p.R233H	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	778					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CGCTATATCCGCAGACTCCGG	0.527													A	10197233	G	A	10197233	3	1	4	1	0	0	0	0	1	0	0	0	16880	1087	38	1	2399	1	UBE4B	1	10197233	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	41662	10197233	239053388	21	2086											
CASZ1	54897	broad.mit.edu	37	chr1	10706370	10706370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtacttgcagtccgtggCgaggcaaggatcgctggaag	17	9	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:10706370C>T	uc001aro.3	-	16	3831	c.3511G>A	c.(3511-3513)Gcc>Acc	p.A1171T		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CAGTCCGTGGCGAGGCAAGGA	0.542													T	10706370	C	T	10706370	3	4	4	1	0	0	0	0	1	0	0	0	2685	768	27	1	1788	1	CASZ1	1	10706370	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	509137	10706370	238544251	22	2087											
ANGPTL7	10218	broad.mit.edu	37	chr1	11253813	11253813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctccagacagccaacccgGctgcgtgtagagatggaggt	13	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:11253813G>A	uc001ase.3	+	2	893	c.654G>A	c.(652-654)cgG>cgA	p.R218R	MTOR_uc001asd.3_Intron	NM_021146	NP_066969	O43827	ANGL7_HUMAN	Homo sapiens angiopoietin-like 7 (ANGPTL7), mRNA.	218	Fibrinogen C-terminal.				response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		AGCCAACCCGGCTGCGTGTAG	0.612													A	11253813	G	A	11253813	2	1	4	1	0	0	0	0	0	0	0	1	619	1190	42	2		2	ANGPTL7	1	11253813	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	547443	11253813	237996808	23	2088											
MTOR	2475	broad.mit.edu	37	chr1	11308151	11308151	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccatttcttctctcagacGctatatatatgaggaggaaa	7	8	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:11308151G>A	uc001asd.3	-	7	962	c.841_splice	c.e7-1	p.R281_splice		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	281					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TCTCTCAGACGCTATATATAT	0.413													A	11308151	G	A	11308151	5	1	4	1	0	0	0	0	0	0	1	0	9954	1101	38	1	7016	1	MTOR	1	11308151	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	54338	11308151	237942470	24	2089											
PTCHD2	57540	broad.mit.edu	37	chr1	11562098	11562098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcccaccgagaggggcgGcaagatctactatgacggca	12	11	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:11562098G>A	uc001ash.4	+	1	1187	c.1049G>A	c.(1048-1050)gGc>gAc	p.G350D	PTCHD2_uc001asi.1_Missense_Mutation_p.G350D	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	350					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GAGAGGGGCGGCAAGATCTAC	0.632													A	11562098	G	A	11562098	3	1	4	1	0	0	0	0	1	0	0	0	12733	1203	42	2	1051	2	PTCHD2	1	11562098	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	253947	11562098	237688523	25	2090											
PTCHD2	57540	broad.mit.edu	37	chr1	11574496	11574496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtttgactatgaagtgCgcaggacgttcaacaatgac	10	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:11574496C>T	uc001ash.4	+	3	1504	c.1366C>T	c.(1366-1368)Cgc>Tgc	p.R456C	PTCHD2_uc001asi.1_Missense_Mutation_p.R456C	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	456					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.R673C(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTATGAAGTGCGCAGGACGTT	0.532													T	11574496	C	T	11574496	3	4	4	1	0	0	0	0	1	0	0	0	12733	768	27	1	1376	1	PTCHD2	1	11574496	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	12398	11574496	237676125	26	2091											
PTCHD2	57540	broad.mit.edu	37	chr1	11596418	11596418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtggcgtacgctggaggCcgtgcggcacgtgggcgtgg	20	11	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:11596418C>T	uc001ash.4	+	20	3992	c.3854C>T	c.(3853-3855)gCc>gTc	p.A1285V		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1285					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACGCTGGAGGCCGTGCGGCAC	0.682													T	11596418	C	T	11596418	3	4	4	1	0	0	0	0	1	0	0	0	12733	739	26	2	3932	2	PTCHD2	1	11596418	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	21922	11596418	237654203	27	2092											
NPPA	4878	broad.mit.edu	37	chr1	11907202	11907202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcccagtccgctctgggCtccaatcctgtccatcctgc	8	18	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:11907202C>T	uc001ati.3	-	1	517	c.418G>A	c.(418-420)Gcc>Acc	p.A140T	CLCN6_uc010oba.1_Intron|CLCN6_uc010oav.1_Intron|CLCN6_uc010oay.1_Intron|CLCN6_uc010oax.1_Intron|CLCN6_uc010oaw.1_Intron|CLCN6_uc010oaz.1_Intron	NM_006172	NP_006163	P01160	ANF_HUMAN	Homo sapiens natriuretic peptide A (NPPA), mRNA.	140					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCTCTGGGCTCCAATCCTG	0.597													T	11907202	C	T	11907202	3	4	4	1	0	0	0	0	1	0	0	0	10591	797	28	2	45	2	NPPA	1	11907202	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	310784	11907202	237343419	28	2093											
PLOD1	5351	broad.mit.edu	37	chr1	12024350	12024350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtggacattgtgcaggggCggcgtgtgtgagtacctgca	17	8	0	1	rs11553676		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:12024350C>T	uc010obb.2	+	12	1575	c.1462C>T	c.(1462-1464)Cgg>Tgg	p.R488W	PLOD1_uc001atm.3_Missense_Mutation_p.R441W	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA.	441					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGTGCAGGGGCGGCGTGTGTG	0.612													T	12024350	C	T	12024350	3	4	4	1	0	0	0	0	1	0	0	0	12101	759	27	1	1367	1	PLOD1	1	12024350	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	117148	12024350	237226271	29	2094											
VPS13D	55187	broad.mit.edu	37	chr1	12387789	12387789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctccaccagccgagataGcccaggggctgtggcagcgc	15	15	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:12387789G>A	uc001atv.3	+	35	8216	c.8075G>A	c.(8074-8076)aGc>aAc	p.S2692N	VPS13D_uc001atw.3_Missense_Mutation_p.S2692N|VPS13D_uc001atx.3_Missense_Mutation_p.S1880N|VPS13D_uc001aty.1_Missense_Mutation_p.S430N	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2692					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGCCGAGATAGCCCAGGGGCT	0.488													A	12387789	G	A	12387789	3	1	4	1	0	0	0	0	1	0	0	0	17189	971	34	2	8213	2	VPS13D	1	12387789	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	363439	12387789	236862832	30	2095											
VPS13D	55187	broad.mit.edu	37	chr1	12422824	12422824	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atacattgatacctgcatggTcatctttgccccccgttacc	6	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:12422824T>C	uc001atv.3	+	50	10331	c.10190T>C	c.(10189-10191)gTc>gCc	p.V3397A	VPS13D_uc001atw.3_Missense_Mutation_p.V3372A|VPS13D_uc001atx.3_Missense_Mutation_p.V2584A	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3396					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACCTGCATGGTCATCTTTGCC	0.423													C	12422824	T	C	12422824	3	2	4	1	0	0	0	0	1	0	0	0	17189	1667	58	3	10388	3	VPS13D	1	12422824	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	35035	12422824	236827797	31	2096											
DHRS3	9249	broad.mit.edu	37	chr1	12640620	12640620	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcacagatgaagtaatgGcactcagtgcccatctgccg	9	12	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:12640620G>A	uc001auc.3	-	1	737	c.270C>T	c.(268-270)tgC>tgT	p.C90C	DHRS3_uc001aub.3_Silent_p.C5C|DHRS3_uc009vnm.3_Silent_p.C90C|DHRS3_uc001aud.4_Silent_p.C90C|DHRS3_uc001aue.1_Non-coding_Transcript	NM_004753	NP_004744	O75911	DHRS3_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA.	90					retinol metabolic process|visual perception	integral to membrane	NADP-retinol dehydrogenase activity|electron carrier activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TGAAGTAATGGCACTCAGTGC	0.557													A	12640620	G	A	12640620	2	1	4	1	0	0	0	0	0	0	0	1	4491	1195	42	2		2	DHRS3	1	12640620	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	217796	12640620	236610001	32	2097											
PRAMEF12	390999	broad.mit.edu	37	chr1	12836065	12836065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccattcttataaggttcGccccttacctgggccagatg	9	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:12836065G>A	uc001aui.3	+	1	694	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	223										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TATAAGGTTCGCCCCTTACCT	0.522													A	12836065	G	A	12836065	3	1	4	1	0	0	0	0	1	0	0	0	12428	1087	38	1	673	1	PRAMEF12	1	12836065	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	195445	12836065	236414556	33	2098											
PRAMEF1	65121	broad.mit.edu	37	chr1	12854205	12854205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgtccaaggatgggagaGcaccagcccttaaaggtgtt	13	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:12854205G>A	uc001auj.2	+	2	532	c.429G>A	c.(427-429)gaG>gaA	p.E143E		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	143										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGGGAGAGCACCAGCCCT	0.537													A	12854205	G	A	12854205	2	1	4	1	0	0	0	0	0	0	0	1	12425	962	34	2		2	PRAMEF1	1	12854205	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	18140	12854205	236396416	34	2099											
LOC649330	649330	broad.mit.edu	37	chr1	12907861	12907861	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgatcgtttcacacctgcGtttcctcggttcacttttgg	9	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:12907861G>A	uc010obf.2	-	1	508	c.282C>T	c.(280-282)aaC>aaT	p.N94N	LOC649330_uc009vno.2_Silent_p.N94N	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	94							nucleic acid binding|nucleotide binding										TCACACCTGCGTTTCCTCGGT	0.488													A	12907861	G	A	12907861	2	1	4	1	0	0	0	0	0	0	0	1	8885	1136	40	1		1	LOC649330	1	12907861	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	53656	12907861	236342760	35	2100											
PRAMEF14	729528	broad.mit.edu	37	chr1	13669154	13669154	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaacaggtccttcagggcAcccatagacatacaatttct	6	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:13669154A>G	uc009vnw.1	-	3	1215	c.1032T>C	c.(1030-1032)ggT>ggC	p.G344G		NM_001099854	NP_001093324	Q5SWL7	PRA14_HUMAN	Homo sapiens PRAME family member 14 (PRAMEF14), mRNA.	344										large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTCAGGGCACCCATAGACA	0.547													G	13669154	A	G	13669154	2	3	4	1	0	0	0	0	0	0	0	1	12430	146	6	3		3	PRAMEF14	1	13669154	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	761293	13669154	235581467	36	2101											
PRDM2	7799	broad.mit.edu	37	chr1	14105372	14105372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgaaacgtttatgtttcCgtgtcaacattgtgaaagga	9	5	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:14105372C>T	uc001avi.3	+	7	1938	c.1082C>T	c.(1081-1083)cCg>cTg	p.P361L	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.P361L|PRDM2_uc021ogk.1_Missense_Mutation_p.P124L|PRDM2_uc001avk.3_Missense_Mutation_p.P160L|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	361						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P361Q(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTTATGTTTCCGTGTCAACAT	0.423													T	14105372	C	T	14105372	3	4	4	1	0	0	0	0	1	0	0	0	12458	652	23	1	1108	1	PRDM2	1	14105372	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	436218	14105372	235145249	37	2102											
PRDM2	7799	broad.mit.edu	37	chr1	14105506	14105506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggcacacagattaaccggCggcgacatgagcggcgccat	13	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:14105506C>T	uc001avi.3	+	7	2072	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.R406W|PRDM2_uc021ogk.1_Missense_Mutation_p.R169W|PRDM2_uc001avk.3_Missense_Mutation_p.R205W|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	406						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GATTAACCGGCGGCGACATGA	0.512													T	14105506	C	T	14105506	3	4	4	1	0	0	0	0	1	0	0	0	12458	759	27	1	1242	1	PRDM2	1	14105506	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	134	14105506	235145115	38	2103											
PRDM2	7799	broad.mit.edu	37	chr1	14108560	14108560	+	Frame_Shift_Del	DEL	A	A	-													tcaaattaaatgcattgaagAaaaaaaatcagctagtacag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:14108559_14108559GA>G	uc001avi.3	+	7	5125	c.4269_4269GA>G	c.(4267-4269)aagfs	p.K1423fs	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Frame_Shift_Del_p.K1423fs|PRDM2_uc001avk.3_Frame_Shift_Del_p.K1222fs|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	1423	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ATGCATTGAAGAAAAAAAATC	0.393													-	14108560	A	-	14108560	7	5	4	1	0	1	0	1	0	0	0	0	12458	247	9	0	4296	0	PRDM2	1	14108560	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	3054	14108560	235142061	39	2104											
SPEN	23013	broad.mit.edu	37	chr1	16255155	16255155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagtggagagagagagacGcttaatacggaaggaaaaag	16	3	0	4	rs149173601	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:16255155G>A	uc001axk.1	+	10	2624	c.2420G>A	c.(2419-2421)cGc>cAc	p.R807H	SPEN_uc010obp.1_Missense_Mutation_p.R766H	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	807	Arg-rich.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGAGAGAGACGCTTAATACGG	0.423													A	16255155	G	A	16255155	3	1	4	1	0	0	0	0	1	0	0	0	15037	1087	38	1	2462	1	SPEN	1	16255155	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2146595	16255155	232995466	40	2105											
SPEN	23013	broad.mit.edu	37	chr1	16257770	16257770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactgtggagccagctaccGtctcagaagaagcaaagcct	11	11	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:16257770G>A	uc001axk.1	+	10	5239	c.5035G>A	c.(5035-5037)Gtc>Atc	p.V1679I	SPEN_uc010obp.1_Missense_Mutation_p.V1638I	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1679					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCCAGCTACCGTCTCAGAAGA	0.537													A	16257770	G	A	16257770	3	1	4	1	0	0	0	0	1	0	0	0	15037	1145	40	1	5077	1	SPEN	1	16257770	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2615	16257770	232992851	41	2106											
ZBTB17	7709	broad.mit.edu	37	chr1	16272720	16272720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggcctatgggtgtgctgCgtcctgcctgctccagcctg	15	13	0	0	rs148471565		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:16272720C>T	uc001axl.4	-	4	703	c.464G>A	c.(463-465)cGc>cAc	p.R155H	ZBTB17_uc010obs.2_Missense_Mutation_p.R79H|ZBTB17_uc010obq.2_Missense_Mutation_p.R73H|ZBTB17_uc010obr.2_Missense_Mutation_p.R155H|ZBTB17_uc010obt.1_Missense_Mutation_p.R92H|ZBTB17_uc010obu.2_Missense_Mutation_p.R79H|ZBTB17_uc009vom.1_Missense_Mutation_p.R98H|ZBTB17_uc010obv.1_Missense_Mutation_p.R155H	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	Homo sapiens zinc finger and BTB domain containing 17 (ZBTB17), transcript variant 2, mRNA.	155					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTGTGCTGCGTCCTGCCTG	0.662													T	16272720	C	T	16272720	3	4	4	1	0	0	0	0	1	0	0	0	17524	768	27	1	1995	1	ZBTB17	1	16272720	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	14950	16272720	232977901	42	2107											
NBPF1	55672	broad.mit.edu	37	chr1	16901707	16901707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaacttgaacatcttcatCgtcatcgttgtcattttctg	5	11	6	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:16901707C>T	uc009vos.1	-	19	3025	c.2137G>A	c.(2137-2139)Gat>Aat	p.D713N	NBPF1_uc009vot.1_Missense_Mutation_p.D171N|NBPF1_uc001ayz.1_Missense_Mutation_p.D171N|NBPF1_uc010oce.1_Missense_Mutation_p.D442N	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	713	NBPF 3.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACATCTTCATCGTCATCGTTG	0.433													T	16901707	C	T	16901707	3	4	4	1	0	0	0	0	1	0	0	0	10192	884	31	1	1327	1	NBPF1	1	16901707	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	628987	16901707	232348914	43	2108											
ATP13A2	23400	broad.mit.edu	37	chr1	17314944	17314944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccacagtcattggcgcCgtctccgcacatgcccacgc	10	19	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:17314944C>T	uc001baa.2	-	23	2825	c.2635G>A	c.(2635-2637)Ggc>Agc	p.G879S	ATP13A2_uc001bac.2_Missense_Mutation_p.G835S|ATP13A2_uc001bab.2_Missense_Mutation_p.G874S	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	879					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TCATTGGCGCCGTCTCCGCAC	0.622													T	17314944	C	T	17314944	3	4	4	1	0	0	0	0	1	0	0	0	1124	652	23	1	1167	1	ATP13A2	1	17314944	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	413237	17314944	231935677	44	2109											
PADI2	11240	broad.mit.edu	37	chr1	17413176	17413176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccaggatgtggatatagCgttggccgaagaacgggtct	16	8	1	1	rs138756249	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:17413176C>T	uc001baf.3	-	6	756	c.674G>A	c.(673-675)cGc>cAc	p.R225H	PADI2_uc010ocm.2_Missense_Mutation_p.A144T|PADI2_uc001bag.1_Missense_Mutation_p.R225H	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	225					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GTGGATATAGCGTTGGCCGAA	0.597													T	17413176	C	T	17413176	3	4	4	1	0	0	0	0	1	0	0	0	11378	768	27	1	1363	1	PADI2	1	17413176	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	98232	17413176	231837445	45	2110											
PADI3	51702	broad.mit.edu	37	chr1	17596768	17596768	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctataggcatgtgctgggCcaagataaggtgtcctatga	13	8	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:17596768C>T	uc001bai.3	+	6	733	c.693C>T	c.(691-693)ggC>ggT	p.G231G		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	231					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ATGTGCTGGGCCAAGATAAGG	0.597													T	17596768	C	T	17596768	2	4	4	1	0	0	0	0	0	0	0	1	11379	726	26	2		2	PADI3	1	17596768	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	183592	17596768	231653853	46	2111											
RCC2	55920	broad.mit.edu	37	chr1	17743117	17743117	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctatccgctgtgcccgggcGatgaacttcccatctgagtt	10	13	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:17743117G>A	uc001bal.3	-	6	934	c.885C>T	c.(883-885)atC>atT	p.I295I	RCC2_uc001bam.3_Silent_p.I295I	NM_001136204	NP_061185	Q9P258	RCC2_HUMAN	Homo sapiens regulator of chromosome condensation 2 (RCC2), transcript variant 2, mRNA.	295					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GTGCCCGGGCGATGAACTTCC	0.547													A	17743117	G	A	17743117	2	1	4	1	0	0	0	0	0	0	0	1	13174	1048	37	1		1	RCC2	1	17743117	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	146349	17743117	231507504	47	2112											
KLHDC7A	127707	broad.mit.edu	37	chr1	18808238	18808238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcatcagcaggagggcGcccccaactcctcctatacc	8	19	1	0	rs145131334		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:18808238G>A	uc001bax.3	+	0	815	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	KLHDC7A_uc009vpg.3_Missense_Mutation_p.A37T	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	255						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGAGGGCGCCCCCAACTC	0.612													A	18808238	G	A	18808238	3	1	4	1	0	0	0	0	1	0	0	0	8360	1087	38	1	765	1	KLHDC7A	1	18808238	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1065121	18808238	230442383	48	2113											
ALDH4A1	8659	broad.mit.edu	37	chr1	19199402	19199402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctccttgatgacctgcggCgacgtccagcgcaggatgta	13	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:19199402C>T	uc001bbb.3	-	14	1905	c.1629G>A	c.(1627-1629)tcG>tcA	p.S543S	ALDH4A1_uc010ocu.2_Silent_p.S483S|ALDH4A1_uc001bbc.3_Silent_p.S543S|ALDH4A1_uc021ohl.1_Silent_p.S492S	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	543					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	TGACCTGCGGCGACGTCCAGC	0.587													T	19199402	C	T	19199402	2	4	4	1	0	0	0	0	0	0	0	1	501	755	27	1		1	ALDH4A1	1	19199402	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	391164	19199402	230051219	49	2114											
UBR4	23352	broad.mit.edu	37	chr1	19468163	19468163	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcaaaatctccatggTccacctcactctgttcctgg	5	16	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:19468163T>C	uc001bbi.3	-	55	8292	c.8288A>G	c.(8287-8289)gAc>gGc	p.D2763G	UBR4_uc001bbk.1_Missense_Mutation_p.D445G	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2763					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATCTCCATGGTCCACCTCACT	0.498													C	19468163	T	C	19468163	3	2	4	1	0	0	0	0	1	0	0	0	16901	1667	58	3	7467	3	UBR4	1	19468163	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	268761	19468163	229782458	50	2115											
UBR4	23352	broad.mit.edu	37	chr1	19478277	19478277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcccgttctattgcttgaGtcccaatctggatccgcatg	11	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:19478277G>A	uc001bbi.3	-	47	7077	c.7073C>T	c.(7072-7074)aCt>aTt	p.T2358I	UBR4_uc001bbk.1_Missense_Mutation_p.T12I|UBR4_uc001bbl.1_Missense_Mutation_p.T295I|UBR4_uc001bbm.1_Missense_Mutation_p.T1570I	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2358					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TATTGCTTGAGTCCCAATCTG	0.512													A	19478277	G	A	19478277	3	1	4	1	0	0	0	0	1	0	0	0	16901	1029	36	4	8714	4	UBR4	1	19478277	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	10114	19478277	229772344	51	2116											
UBR4	23352	broad.mit.edu	37	chr1	19524463	19524463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcttgaagactagccacGttctgagctatgaacacatt	8	10	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:19524463G>A	uc001bbi.3	-	5	733	c.729C>T	c.(727-729)aaC>aaT	p.N243N		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	243					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GACTAGCCACGTTCTGAGCTA	0.418													A	19524463	G	A	19524463	2	1	4	1	0	0	0	0	0	0	0	1	16901	1136	40	1		1	UBR4	1	19524463	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	46186	19524463	229726158	52	2117											
KIAA0090	23065	broad.mit.edu	37	chr1	19566419	19566419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgggaagcgtccactgGgttgggctgggtaggcagga	20	9	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:19566419G>A	uc001bbo.3	-	7	890	c.847C>T	c.(847-849)Cca>Tca	p.P283S	KIAA0090_uc001bbp.3_Missense_Mutation_p.P283S|KIAA0090_uc001bbq.3_Missense_Mutation_p.P283S|KIAA0090_uc001bbr.3_Missense_Mutation_p.P261S	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	283						integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		GCGTCCACTGGGTTGGGCTGG	0.527													A	19566419	G	A	19566419	3	1	4	1	0	0	0	0	1	0	0	0	8153	1232	43	4	2198	4	KIAA0090	1	19566419	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	41956	19566419	229684202	53	2118											
MUL1	79594	broad.mit.edu	37	chr1	20827511	20827511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaaagccaaaaaccagcGccagcaccttccagagcctg	9	15	0	1	rs117689813	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:20827511G>A	uc001bdi.4	-	3	888	c.731C>T	c.(730-732)gCg>gTg	p.A244V		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	Homo sapiens mitochondrial E3 ubiquitin protein ligase 1 (MUL1), nuclear gene encoding mitochondrial protein, mRNA.	244					activation of JUN kinase activity|activation of caspase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		AAAAACCAGCGCCAGCACCTT	0.592													A	20827511	G	A	20827511	3	1	4	1	0	0	0	0	1	0	0	0	9984	1087	38	1	331	1	MUL1	1	20827511	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1261092	20827511	228423110	54	2119											
RAP1GAP	5909	broad.mit.edu	37	chr1	21926080	21926080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgggagaagtccttgagCgcctctgctctctgcgctgc	14	13	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:21926080C>T	uc001bev.3	-	18	1956	c.1938G>A	c.(1936-1938)gcG>gcA	p.A646A	RAP1GAP_uc001bew.3_Silent_p.A625A|RAP1GAP_uc001bey.3_Silent_p.A587A|RAP1GAP_uc001bex.3_Silent_p.A561A	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	561					regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AGTCCTTGAGCGCCTCTGCTC	0.672													T	21926080	C	T	21926080	2	4	4	1	0	0	0	0	0	0	0	1	13037	755	27	1		1	RAP1GAP	1	21926080	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1098569	21926080	227324541	55	2120											
USP48	84196	broad.mit.edu	37	chr1	22030030	22030030	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattatccacaactttatggAcatagatggtggcttgagtg	10	6	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:22030030A>G	uc010odq.2	-	20	2871	c.2633T>C	c.(2632-2634)gTc>gCc	p.V878A	USP48_uc001bfa.3_Missense_Mutation_p.V404A|USP48_uc001bfb.3_Missense_Mutation_p.V866A|USP48_uc009vqc.3_Missense_Mutation_p.V800A|USP48_uc001bfc.3_Missense_Mutation_p.V866A|USP48_uc001bfd.1_Intron	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	Homo sapiens ubiquitin specific peptidase 48 (USP48), transcript variant 1, mRNA.	866					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		AACTTTATGGACATAGATGGT	0.428													G	22030030	A	G	22030030	3	3	4	1	0	0	0	0	1	0	0	0	17076	275	10	3	538	3	USP48	1	22030030	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	103950	22030030	227220591	56	2121											
EPHB2	2048	broad.mit.edu	37	chr1	23191488	23191488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtctacaacatcatctgCaagagctgtggctcgggccg	11	13	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:23191488C>T	uc009vqj.1	+	4	1231	c.1086C>T	c.(1084-1086)tgC>tgT	p.C362C	EPHB2_uc001bge.3_Silent_p.C362C|EPHB2_uc001bgf.3_Silent_p.C362C|EPHB2_uc010odu.2_Silent_p.C362C|MIR4253_uc021oic.1_5'Flank	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	362	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACATCATCTGCAAGAGCTGTG	0.617													T	23191488	C	T	23191488	2	4	4	1	0	0	0	0	0	0	0	1	5175	718	25	2		2	EPHB2	1	23191488	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1161458	23191488	226059133	57	2122											
LDLRAP1	26119	broad.mit.edu	37	chr1	25883728	25883728	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaccagagcctcgagtgCcacgccttcctctgcaccaa	7	18	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:25883728C>T	uc001bkl.4	+	3	543	c.429C>T	c.(427-429)tgC>tgT	p.C143C		NM_015627	NP_056442	Q5SW96	ARH_HUMAN	Homo sapiens low density lipoprotein receptor adaptor protein 1 (LDLRAP1), mRNA.	143	PID.				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCGAGTGCCACGCCTTCC	0.622													T	25883728	C	T	25883728	2	4	4	1	0	0	0	0	0	0	0	1	8708	747	26	2		2	LDLRAP1	1	25883728	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2692240	25883728	223366893	58	2123											
C1orf135	79000	broad.mit.edu	37	chr1	26161648	26161648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttacatcttgaaaaggagCtctagtgttgtgggcaatga	13	5	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:26161648C>T	uc001bkw.1	-	2	910	c.910G>A	c.(910-912)Gct>Act	p.A304T		NM_024037	NP_076942	Q9H7T9	CA135_HUMAN	Homo sapiens chromosome 1 open reading frame 135 (C1orf135), mRNA.	304										NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00521)|all_lung(284;0.00764)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.117)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.28e-25)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000787)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		TGAAAAGGAGCTCTAGTGTTG	0.473													T	26161648	C	T	26161648	3	4	4	1	0	0	0	0	1	0	0	0	1999	797	28	2	167	2	C1orf135	1	26161648	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	277920	26161648	223088973	59	2124											
EXTL1	2134	broad.mit.edu	37	chr1	26349584	26349584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggagagtgcagctcaatGcctctgcaatggaacagggg	14	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:26349584G>A	uc001blf.3	+	0	1314	c.447G>A	c.(445-447)atG>atA	p.M149I		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	149					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCTCAATGCCTCTGCAAT	0.632													A	26349584	G	A	26349584	3	1	4	1	0	0	0	0	1	0	0	0	5325	1319	46	2	449	2	EXTL1	1	26349584	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	187936	26349584	222901037	60	2125											
EXTL1	2134	broad.mit.edu	37	chr1	26361326	26361326	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcttttcctcttgcccaGgtattaccacactctcttca	4	15	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:26361326G>T	uc001blf.3	+	10	2547	c.1680_splice	c.e10-1	p.R560_splice		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	560					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTTGCCCAGGTATTACCAC	0.577													T	26361326	G	T	26361326	5	4	4	1	0	0	0	0	0	0	1	0	5325	1014	35	5	1717	5	EXTL1	1	26361326	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	11742	26361326	222889295	61	2126											
RPS6KA1	6195	broad.mit.edu	37	chr1	26900639	26900639	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagctgaagcccatcgagTcatccatcctggcccagcgg	10	17	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:26900639T>C	uc001bmr.1	+	21	2318	c.2155T>C	c.(2155-2157)Tca>Cca	p.S719P	RPS6KA1_uc010ofe.1_Missense_Mutation_p.S627P|RPS6KA1_uc001bms.1_Missense_Mutation_p.S728P|RPS6KA1_uc009vsl.1_Missense_Mutation_p.S562P	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	719					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GCCCATCGAGTCATCCATCCT	0.622													C	26900639	T	C	26900639	3	2	4	1	0	0	0	0	1	0	0	0	13650	1667	58	3	2380	3	RPS6KA1	1	26900639	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	539313	26900639	222349982	62	2127											
ARID1A	8289	broad.mit.edu	37	chr1	27105886	27105886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgctcagataagcttgggCgtgtgcaggagtttgacagt	14	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:27105886C>T	uc001bmv.1	+	19	5870	c.5497C>T	c.(5497-5499)Cgt>Tgt	p.R1833C	ARID1A_uc001bmu.1_Missense_Mutation_p.R1616C|ARID1A_uc001bmx.1_Missense_Mutation_p.R679C|ARID1A_uc009vsm.1_Missense_Mutation_p.R161C|ARID1A_uc009vsn.1_Missense_Mutation_p.R75C	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1833					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TAAGCTTGGGCGTGTGCAGGA	0.512			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								T	27105886	C	T	27105886	3	4	4	1	0	0	0	0	1	0	0	0	913	768	27	1	5575	1	ARID1A	1	27105886	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	205247	27105886	222144735	63	2128											
TMEM222	84065	broad.mit.edu	37	chr1	27657215	27657215	+	Frame_Shift_Del	DEL	T	T	-													gtccttttcctcacaggtggTttttccccatcatcggccac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:27657214_27657214GT>G	uc001bnr.4	+	1	251	c.198_198GT>G	c.(196-198)tggfs	p.W66fs	TMEM222_uc021ojt.1_Non-coding_Transcript|TMEM222_uc001bns.4_Non-coding_Transcript|TMEM222_uc001bnt.4_Non-coding_Transcript	NM_032125	NP_115501	Q9H0R3	TM222_HUMAN	Homo sapiens transmembrane protein 222 (TMEM222), transcript variant 1, mRNA.	66						integral to membrane	protein binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CTCACAGGTGGTTTTTCCCCA	0.557													-	27657215	T	-	27657215	7	5	4	1	0	1	0	1	0	0	0	0	16142	1725	60	0	205	0	TMEM222	1	27657215	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	551329	27657215	221593406	64	2129											
GPR3	2827	broad.mit.edu	37	chr1	27720703	27720703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggccatcactgtcgaccGctacctttctctgtacaatg	7	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:27720703G>A	uc001bod.3	+	1	496	c.401G>A	c.(400-402)cGc>cAc	p.R134H	GPR3_uc021ojv.1_Missense_Mutation_p.R134H	NM_005281	NP_005272	P46089	GPR3_HUMAN	Homo sapiens G protein-coupled receptor 3 (GPR3), mRNA.	134					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		ACTGTCGACCGCTACCTTTCT	0.577													A	27720703	G	A	27720703	3	1	4	1	0	0	0	0	1	0	0	0	6686	1087	38	1	403	1	GPR3	1	27720703	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	63488	27720703	221529918	65	2130											
PPP1R8	5511	broad.mit.edu	37	chr1	28176610	28176610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtgaactgtagaagaagCgtgtggagggccctggctcc	15	9	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:28176610C>T	uc001bov.2	+	6	804	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C	PPP1R8_uc009vtd.2_Missense_Mutation_p.R13C|PPP1R8_uc001bow.2_Missense_Mutation_p.R95C|PPP1R8_uc001box.2_Missense_Mutation_p.R13C|PPP1R8_uc021ojy.1_Missense_Mutation_p.R95C	NM_014110	NP_612568	Q12972	PP1R8_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 8 (PPP1R8), transcript variant 1, mRNA.	237					RNA catabolic process|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|RNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		GTAGAAGAAGCGTGTGGAGGG	0.572													T	28176610	C	T	28176610	3	4	4	1	0	0	0	0	1	0	0	0	12377	768	27	1	735	1	PPP1R8	1	28176610	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	455907	28176610	221074011	66	2131											
YTHDF2	51441	broad.mit.edu	37	chr1	29070189	29070189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtggacacttctgtggCgtggcagaaatgaaatctgc	14	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:29070189C>T	uc021okf.1	+	4	1670	c.1407C>T	c.(1405-1407)ggC>ggT	p.G469G	YTHDF2_uc001brc.3_Silent_p.G469G|YTHDF2_uc010ofx.2_Silent_p.G419G|YTHDF2_uc001bre.3_Silent_p.G419G	NM_001173128	NP_001166299	Q9Y5A9	YTHD2_HUMAN	Homo sapiens YTH domain family, member 2 (YTHDF2), transcript variant 2, mRNA.	469	YTH.				humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ACTTCTGTGGCGTGGCAGAAA	0.483													T	29070189	C	T	29070189	2	4	4	1	0	0	0	0	0	0	0	1	17496	755	27	1		1	YTHDF2	1	29070189	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	893579	29070189	220180432	67	2132											
EPB41	2035	broad.mit.edu	37	chr1	29365769	29365769	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tacgattttccccccagattGacatctacagacaccattcc	4	15	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:29365769G>C	uc001brm.2	+	10	1594	c.1467G>C	c.(1465-1467)ttG>ttC	p.L489F	EPB41_uc001brg.2_Missense_Mutation_p.L280F|EPB41_uc001brh.2_Missense_Mutation_p.L280F|EPB41_uc001brj.2_Missense_Mutation_p.L280F|EPB41_uc001bri.2_Missense_Mutation_p.L454F|EPB41_uc009vtk.2_Missense_Mutation_p.L454F|EPB41_uc001brk.3_Missense_Mutation_p.L489F|EPB41_uc001brl.2_Missense_Mutation_p.L489F|EPB41_uc021okg.1_Missense_Mutation_p.L489F|EPB41_uc009vtm.2_Missense_Mutation_p.L122F|EPB41_uc009vtl.2_Missense_Mutation_p.L280F	NM_001166005	NP_001159477	P11171	41_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA.	489	FERM.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	Golgi apparatus|extrinsic to membrane|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CCCCCAGATTGACATCTACAG	0.353													C	29365769	G	C	29365769	3	2	4	1	0	0	0	0	1	0	0	0	5151	1281	45	5	1505	5	EPB41	1	29365769	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	295580	29365769	219884852	68	2133											
MECR	51102	broad.mit.edu	37	chr1	29533360	29533360	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcgctctgaagagggatgTcactcggaacttggatcagt	13	9	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:29533360T>C	uc001brq.1	-	3	500	c.464A>G	c.(463-465)gAc>gGc	p.D155G	MECR_uc001brp.1_Missense_Mutation_p.D79G|MECR_uc001brt.1_Missense_Mutation_p.D79G|MECR_uc010ofz.1_Missense_Mutation_p.D155G	NM_016011	NP_001019903	Q9BV79	MECR_HUMAN	Homo sapiens mitochondrial trans-2-enoyl-CoA reductase (MECR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	155					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		AAGAGGGATGTCACTCGGAAC	0.567													C	29533360	T	C	29533360	3	2	4	1	0	0	0	0	1	0	0	0	9424	1667	58	3	685	3	MECR	1	29533360	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	167591	29533360	219717261	69	2134											
FABP3	2170	broad.mit.edu	37	chr1	31838774	31838774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagtgcaaactgcagtgcCgtgggtgagtgtctggaagg	18	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:31838774C>T	uc001bss.1	-	3	423	c.361G>A	c.(361-363)Ggc>Agc	p.G121S		NM_004102	NP_004093	P05413	FABPH_HUMAN	Homo sapiens fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) (FABP3), mRNA.	121					negative regulation of cell proliferation					large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		ACTGCAGTGCCGTGGGTGAGT	0.542													T	31838774	C	T	31838774	3	4	4	1	0	0	0	0	1	0	0	0	5358	652	23	1	44	1	FABP3	1	31838774	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2305414	31838774	217411847	70	2135											
TINAGL1	64129	broad.mit.edu	37	chr1	32042850	32042850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgggagctagcaccggGtctgcacctgcggggcatcc	16	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:32042850G>A	uc001bta.3	+	1	227	c.101G>A	c.(100-102)gGt>gAt	p.G34D	TINAGL1_uc010ogi.1_Missense_Mutation_p.G34D|TINAGL1_uc010ogj.2_Missense_Mutation_p.G34D|TINAGL1_uc010ogk.1_Missense_Mutation_p.G34D|TINAGL1_uc021oko.1_5'Flank	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	34					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CTAGCACCGGGTCTGCACCTG	0.711													A	32042850	G	A	32042850	3	1	4	1	0	0	0	0	1	0	0	0	15919	1261	44	4	103	4	TINAGL1	1	32042850	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	204076	32042850	217207771	71	2136											
SPOCD1	90853	broad.mit.edu	37	chr1	32265460	32265460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcttcagcctccattgggCcactctgtaggggaggcgtg	13	13	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:32265460C>T	uc001bts.1	-	5	1791	c.1733G>A	c.(1732-1734)gGc>gAc	p.G578D	SPOCD1_uc001btu.3_Missense_Mutation_p.G578D|SPOCD1_uc001btv.3_Missense_Mutation_p.G71D|SPOCD1_uc021oks.1_5'Flank|SPOCD1_uc001btw.1_5'Flank	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	578					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTCCATTGGGCCACTCTGTAG	0.622													T	32265460	C	T	32265460	3	4	4	1	0	0	0	0	1	0	0	0	15077	739	26	2	1961	2	SPOCD1	1	32265460	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	222610	32265460	216985161	72	2137											
EIF3I	8668	broad.mit.edu	37	chr1	32690021	32690021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcttcaggggacaccaaGcatgtcctcactggctcagc	9	14	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:32690021G>A	uc001bur.4	+	4	728	c.195G>A	c.(193-195)aaG>aaA	p.K65K	TMEM234_uc001buo.3_5'Flank|TMEM234_uc001bup.3_5'Flank|TMEM234_uc009vub.1_5'Flank|TMEM234_uc010oha.2_5'Flank|TMEM234_uc001buq.4_5'Flank|EIF3I_uc009vuc.3_Silent_p.K65K	NM_003757	NP_003748	Q13347	EIF3I_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit I (EIF3I), mRNA.	65						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				GGGACACCAAGCATGTCCTCA	0.488													A	32690021	G	A	32690021	2	1	4	1	0	0	0	0	0	0	0	1	5019	962	34	2		2	EIF3I	1	32690021	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	424561	32690021	216560600	73	2138											
SYNC	81493	broad.mit.edu	37	chr1	33160998	33160998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggatctcctcccttaggCcatctctctccagctctgct	7	18	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:33160998C>T	uc001bvt.2	-	1	801	c.701G>A	c.(700-702)gGc>gAc	p.G234D	SYNC_uc010ohl.1_Missense_Mutation_p.G234D	NM_030786	NP_110413	Q9H7C4	SYNCI_HUMAN	Homo sapiens syncoilin, intermediate filament protein (SYNC), transcript variant 1, mRNA.	234	Coil 1b.					intermediate filament|perinuclear region of cytoplasm	structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTCCCTTAGGCCATCTCTCTC	0.562													T	33160998	C	T	33160998	3	4	4	1	0	0	0	0	1	0	0	0	15440	739	26	2	825	2	SYNC	1	33160998	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	470977	33160998	216089623	74	2139											
PHC2	1912	broad.mit.edu	37	chr1	33836643	33836643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgactgggccggggcctgcGcagacacattgctgcctgaa	14	12	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:33836643G>A	uc009vuh.1	-	3	875	c.386C>T	c.(385-387)gCg>gTg	p.A129V	PHC2_uc001bxg.1_Missense_Mutation_p.A129V|PHC2_uc001bxh.1_Missense_Mutation_p.A129V|PHC2_uc001bxi.1_Missense_Mutation_p.A129V	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	Homo sapiens polyhomeotic homolog 2 (Drosophila) (PHC2), transcript variant 1, mRNA.	129					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	p.A129A(1)		autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CGGGGCCTGCGCAGACACATT	0.562													A	33836643	G	A	33836643	3	1	4	1	0	0	0	0	1	0	0	0	11817	1087	38	1	2238	1	PHC2	1	33836643	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	675645	33836643	215413978	75	2140											
PHC2	1912	broad.mit.edu	37	chr1	33840979	33840979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcttacctgcacggtctgCcggtctggaataccactgta	9	13	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:33840979C>T	uc009vuh.1	-	1	651	c.162G>A	c.(160-162)cgG>cgA	p.R54R	PHC2_uc001bxg.1_Silent_p.R54R|PHC2_uc001bxh.1_Silent_p.R54R|PHC2_uc001bxi.1_Silent_p.R54R	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	Homo sapiens polyhomeotic homolog 2 (Drosophila) (PHC2), transcript variant 1, mRNA.	54					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GCACGGTCTGCCGGTCTGGAA	0.557													T	33840979	C	T	33840979	2	4	4	1	0	0	0	0	0	0	0	1	11817	726	26	2		2	PHC2	1	33840979	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4336	33840979	215409642	76	2141											
ZSCAN20	7579	broad.mit.edu	37	chr1	33944899	33944899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggttagacaatggctatgGccctggaattgcaagcccag	13	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:33944899G>A	uc001bxj.4	+	1	177	c.10G>A	c.(10-12)Gcc>Acc	p.A4T	ZSCAN20_uc001bxk.2_Missense_Mutation_p.A4T|ZSCAN20_uc009vui.3_Missense_Mutation_p.A4T	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	4					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AATGGCTATGGCCCTGGAATT	0.507													A	33944899	G	A	33944899	3	1	4	1	0	0	0	0	1	0	0	0	18229	1203	42	2	12	2	ZSCAN20	1	33944899	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	103920	33944899	215305722	77	2142											
CSMD2	114784	broad.mit.edu	37	chr1	33985194	33985194	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggctggatgttgcggTcgtacattgggttctcaaat	14	7	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:33985194T>C	uc001bxm.1	-	69	10997	c.10820A>G	c.(10819-10821)gAc>gGc	p.D3607G	CSMD2_uc001bxn.1_Missense_Mutation_p.D3463G	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3463						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GATGTTGCGGTCGTACATTGG	0.562													C	33985194	T	C	33985194	3	2	4	1	0	0	0	0	1	0	0	0	3945	1667	58	3	79	3	CSMD2	1	33985194	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	40295	33985194	215265427	78	2143											
CSMD2	114784	broad.mit.edu	37	chr1	34128652	34128652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatcccagatgcgcagcaCgtcgtgaacctcctctgtgt	9	16	1	2	rs142169949	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:34128652C>T	uc001bxm.1	-	25	4270	c.4093G>A	c.(4093-4095)Gtg>Atg	p.V1365M	CSMD2_uc001bxn.1_Missense_Mutation_p.V1325M|CSMD2_uc001bxo.1_Missense_Mutation_p.V238M	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1325	CUB 8.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGCGCAGCACGTCGTGAACC	0.602													T	34128652	C	T	34128652	3	4	4	1	0	0	0	0	1	0	0	0	3945	536	19	1	6666	1	CSMD2	1	34128652	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	143458	34128652	215121969	79	2144											
ZMYM4	9202	broad.mit.edu	37	chr1	35855553	35855553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttcttctttttagatggCcaaatgtgatgcttgtaagc	8	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:35855553C>T	uc001byt.3	+	14	2521	c.2441C>T	c.(2440-2442)gCc>gTc	p.A814V	ZMYM4_uc009vuu.3_Missense_Mutation_p.A782V|ZMYM4_uc001byu.3_Missense_Mutation_p.A490V|ZMYM4_uc009vuv.3_Missense_Mutation_p.A553V	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	814					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTTAGATGGCCAAATGTGAT	0.368													T	35855553	C	T	35855553	3	4	4	1	0	0	0	0	1	0	0	0	17699	739	26	2	2499	2	ZMYM4	1	35855553	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1726901	35855553	213395068	80	2145											
PSMB2	5690	broad.mit.edu	37	chr1	36074953	36074953	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtagtccatgtaatacagCgctggcccttcatgctcatc	9	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:36074953C>T	uc001bzd.2	-	3	754	c.342G>A	c.(340-342)gcG>gcA	p.A114A	PSMB2_uc021olh.1_5'UTR|PSMB2_uc010ohz.2_Silent_p.A89A|PSMB2_uc001bzf.2_Silent_p.A114A	NM_002794	NP_002785	P49721	PSB2_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 2 (PSMB2), transcript variant 1, mRNA.	114					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|large_intestine(2)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)	TGTAATACAGCGCTGGCCCTT	0.512													T	36074953	C	T	36074953	2	4	4	1	0	0	0	0	0	0	0	1	12677	755	27	1		1	PSMB2	1	36074953	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	219400	36074953	213175668	81	2146											
CLSPN	63967	broad.mit.edu	37	chr1	36203693	36203693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagctgtaattttcccctgCtgtgcctgaaaaaaaaaaaa	6	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:36203693C>T	uc001bzi.3	-	21	3644	c.3564G>A	c.(3562-3564)caG>caA	p.Q1188Q	CLSPN_uc009vux.3_Silent_p.Q1124Q	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	Homo sapiens claspin (CLSPN), transcript variant 1, mRNA.	1188					DNA repair|DNA replication|G2/M transition DNA damage checkpoint|activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	DNA binding|anaphase-promoting complex binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTTCCCCTGCTGTGCCTGAA	0.343													T	36203693	C	T	36203693	2	4	4	1	0	0	0	0	0	0	0	1	3560	796	28	2		2	CLSPN	1	36203693	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	128740	36203693	213046928	82	2147											
EIF2C1	26523	broad.mit.edu	37	chr1	36367904	36367904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgggccatcgcctgcttcGcaccccaaaaacagtgtcga	9	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:36367904G>A	uc001bzl.3	+	10	1576	c.1363G>A	c.(1363-1365)Gca>Aca	p.A455T	EIF2C1_uc001bzk.3_Missense_Mutation_p.A380T|EIF2C1_uc009vuy.3_Intron	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	455					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CGCCTGCTTCGCACCCCAAAA	0.572													A	36367904	G	A	36367904	3	1	4	1	0	0	0	0	1	0	0	0	5005	1087	38	1	1405	1	EIF2C1	1	36367904	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	164211	36367904	212882717	83	2148											
THRAP3	9967	broad.mit.edu	37	chr1	36752132	36752132	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccatggggccaatataacCgaggaggctatggaaactac	11	9	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:36752132C>T	uc001cae.4	+	3	525	c.301C>T	c.(301-303)Cga>Tga	p.R101*	THRAP3_uc001caf.4_Nonsense_Mutation_p.R101*|THRAP3_uc001cag.1_Nonsense_Mutation_p.R101*	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	101	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.R101*(4)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAATATAACCGAGGAGGCTA	0.502			T	USP6	aneurysmal bone cysts								T	36752132	C	T	36752132	4	4	4	1	0	0	0	0	0	1	0	0	15871	644	23	1	307	1	THRAP3	1	36752132	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	384228	36752132	212498489	84	2149											
THRAP3	9967	broad.mit.edu	37	chr1	36752635	36752635	+	Frame_Shift_Del	DEL	C	C	-													cggcggtcaccccgtcctagCcccgtgccaaaacctagtcc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:36752634_36752634GC>G	uc001cae.4	+	3	1027	c.803_803GC>G	c.(802-804)agcfs	p.S268fs	THRAP3_uc001caf.4_Frame_Shift_Del_p.S268fs|THRAP3_uc001cag.1_Frame_Shift_Del_p.S268fs	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	268	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCCGTCCTAGCCCCGTGCCA	0.622			T	USP6	aneurysmal bone cysts								-	36752635	C	-	36752635	7	5	4	1	0	1	0	1	0	0	0	0	15871	738	26	0	810	0	THRAP3	1	36752635	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	503	36752635	212497986	85	2150											
OSCP1	127700	broad.mit.edu	37	chr1	36886127	36886127	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccggaatccgggctcaggGccactgggtttcttaatctc	11	12	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:36886127G>A	uc001caq.3	-	7	1025	c.909C>T	c.(907-909)ggC>ggT	p.G303G	OSCP1_uc021olk.1_Silent_p.G313G	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN	Homo sapiens organic solute carrier partner 1 (OSCP1), transcript variant 1, mRNA.	313					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						CGGGCTCAGGGCCACTGGGTT	0.448											OREG0013368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	36886127	G	A	36886127	2	1	4	1	0	0	0	0	0	0	0	1	11286	1190	42	2		2	OSCP1	1	36886127	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	133492	36886127	212364494	86	2151											
EPHA10	284656	broad.mit.edu	37	chr1	38227345	38227345	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgccacgcatgcgcccacGtcctgaaaggccaggtggaa	13	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:38227345G>A	uc009vvi.3	-	2	668	c.582C>T	c.(580-582)gaC>gaT	p.D194D	EPHA10_uc001cbw.4_Silent_p.D194D	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	194						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATGCGCCCACGTCCTGAAAGG	0.677													A	38227345	G	A	38227345	2	1	4	1	0	0	0	0	0	0	0	1	5166	1136	40	1		1	EPHA10	1	38227345	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1341218	38227345	211023276	87	2152											
MACF1	23499	broad.mit.edu	37	chr1	39797772	39797772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctagtagctgctaagatcGcccttgtgattctggagtcc	10	10	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:39797772G>A	uc021olw.1	+	0	832	c.832G>A	c.(832-834)Gcc>Acc	p.A278T	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1843	Actin-binding.|CH 2.				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCTAAGATCGCCCTTGTGAT	0.488													A	39797772	G	A	39797772	3	1	4	1	0	0	0	0	1	0	0	0	9144	1087	38	1	5603	1	MACF1	1	39797772	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1570427	39797772	209452849	88	2153											
MACF1	23499	broad.mit.edu	37	chr1	39926453	39926453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcaggagtttatcgatggCattttagcatccagtgagtc	11	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:39926453C>T	uc021olw.1	+	56	16839	c.16839C>T	c.(16837-16839)ggC>ggT	p.G5613G	MACF1_uc021ols.1_Silent_p.G5108G|MACF1_uc021olt.1_Silent_p.G5111G|MACF1_uc001cde.2_5'Flank	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7069					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTATCGATGGCATTTTAGCAT	0.433													T	39926453	C	T	39926453	2	4	4	1	0	0	0	0	0	0	0	1	9144	697	25	2		2	MACF1	1	39926453	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	128681	39926453	209324168	89	2154											
MACF1	23499	broad.mit.edu	37	chr1	39951352	39951352	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgacacttcagaaagcagCgctgcagggggccaaggcaa	13	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:39951352C>T	uc021olw.1	+	63	17703	c.17703C>T	c.(17701-17703)agC>agT	p.S5901S	MACF1_uc021ols.1_Silent_p.S5390S|MACF1_uc021olt.1_Silent_p.S5393S|MACF1_uc001cde.2_Silent_p.S307S|MACF1_uc001cdg.3_3'UTR|MACF1_uc001cdh.3_3'UTR	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7351					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGAAAGCAGCGCTGCAGGGG	0.577													T	39951352	C	T	39951352	2	4	4	1	0	0	0	0	0	0	0	1	9144	767	27	1		1	MACF1	1	39951352	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	24899	39951352	209299269	90	2155											
PABPC4	8761	broad.mit.edu	37	chr1	40027379	40027381	+	In_Frame_Del	DEL	AGC	AGC	-													tttttccttgtctaagaggtAgcagcagcaacagcgcccac					rs145196808		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:40027378_40027380TAGC>T	uc001cdl.2	-	14	2871_2873	c.1973_1975GCTA>A	c.(1972-1977)gctacc>gAcc	p.658_659AT>D	PPIEL_uc001cdk.3_5'Flank|PABPC4_uc010oiv.1_In_Frame_Del_p.642_643AT>D|PABPC4_uc001cdm.2_In_Frame_Del_p.629_630AT>D	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	642					RNA catabolic process|RNA processing|blood coagulation|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTCTAAGAGGTAGCAGCAGCAAC	0.468													-	40027381	AGC	-	40027379	7	5	4	1	0	1	0	1	0	0	0	0	11366	407	15	0	12	0	PABPC4	1	40027379	In_Frame_Del	DEL	AGC	TCGA-BR-4184-01A-01D-1126-08	76027	40027379	209223242	91	2156											
PPIE	10450	broad.mit.edu	37	chr1	40205879	40205879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacaaagttcttcatgctgCgttcattccttttggagaca	8	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:40205879C>T	uc001cds.2	+	1	130	c.74C>T	c.(73-75)gCg>gTg	p.A25V	PPIE_uc010oiy.2_5'UTR|PPIE_uc001cdt.2_5'UTR|PPIE_uc001cdu.2_Non-coding_Transcript|PPIE_uc001cdw.3_Missense_Mutation_p.A25V|PPIE_uc001cdv.3_Missense_Mutation_p.A25V|PPIE_uc001cdx.2_5'Flank	NM_006112	NP_006103	Q9UNP9	PPIE_HUMAN	Homo sapiens peptidylprolyl isomerase E (cyclophilin E) (PPIE), transcript variant 1, mRNA.	25	RRM.				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	RNA binding|cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTTCATGCTGCGTTCATTCCT	0.453													T	40205879	C	T	40205879	3	4	4	1	0	0	0	0	1	0	0	0	12322	768	27	1	80	1	PPIE	1	40205879	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	178500	40205879	209044742	92	2157											
MYCL1	4610	broad.mit.edu	37	chr1	40363547	40363547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggaaatgcttcatgcaggGatccagggggtctgctcgca	15	9	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:40363547G>A	uc001cer.2	-	2	809	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	MYCL1_uc001ces.2_Missense_Mutation_p.P198S	NM_001033082	NP_001028253	P12524	MYCL1_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian) (MYCL1), transcript variant 2, mRNA.	198						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			liver(1)|lung(1)	2	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTCATGCAGGGATCCAGGGGG	0.517			A		small cell lung								A	40363547	G	A	40363547	3	1	4	1	0	0	0	0	1	0	0	0	10020	1174	41	4	506	4	MYCL1	1	40363547	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	157668	40363547	208887074	93	2158											
RLF	6018	broad.mit.edu	37	chr1	40702413	40702413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggtacagactgttcccGtgtgtttaagcaatttaaat	8	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:40702413G>A	uc001cfc.4	+	7	2070	c.2039G>A	c.(2038-2040)cGt>cAt	p.R680H	RLF_uc001cfd.4_Missense_Mutation_p.R371H	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	680					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.R680S(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GACTGTTCCCGTGTGTTTAAG	0.378													A	40702413	G	A	40702413	3	1	4	1	0	0	0	0	1	0	0	0	13389	1145	40	1	2069	1	RLF	1	40702413	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	338866	40702413	208548208	94	2159											
RLF	6018	broad.mit.edu	37	chr1	40705591	40705591	+	Frame_Shift_Del	DEL	A	A	-													tcagggcaagaaaacactgtAaaaaatccaacccatgtccc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:40705590_40705590TA>T	uc001cfc.4	+	7	5247	c.5216_5216TA>T	c.(5215-5217)gtafs	p.V1739fs	RLF_uc001cfd.4_Frame_Shift_Del_p.V1430fs	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	1739					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GAAAACACTGTAAAAAATCCA	0.403													-	40705591	A	-	40705591	7	5	4	1	0	1	0	1	0	0	0	0	13389	349	13	0	5247	0	RLF	1	40705591	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	3178	40705591	208545030	95	2160											
SMAP2	64744	broad.mit.edu	37	chr1	40887722	40887722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggacagtcaatgagtggCggaaatggacaggcagcaaa	14	6	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:40887722C>T	uc001cfj.3	+	9	1654	c.1239C>T	c.(1237-1239)ggC>ggT	p.G413G	SMAP2_uc001cfk.3_Silent_p.G383G|SMAP2_uc021oma.1_Silent_p.G408G|SMAP2_uc010oji.2_Silent_p.G333G|SMAP2_uc010ojj.2_Silent_p.G229G	NM_022733	NP_001185909	Q8WU79	SMAP2_HUMAN	Homo sapiens small ArfGAP2 (SMAP2), transcript variant 1, mRNA.	413	Interaction with PICALM (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			CAATGAGTGGCGGAAATGGAC	0.493													T	40887722	C	T	40887722	2	4	4	1	0	0	0	0	0	0	0	1	14767	755	27	1		1	SMAP2	1	40887722	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	182131	40887722	208362899	96	2161											
DEM1	64789	broad.mit.edu	37	chr1	40981166	40981166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagagaaggaggtgagagCcaaggtgcagcattatatgg	15	5	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:40981166C>T	uc001cfp.3	+	2	1155	c.950C>T	c.(949-951)gCc>gTc	p.A317V	DEM1_uc001cfq.3_Missense_Mutation_p.A317V|DEM1_uc001cfr.3_Missense_Mutation_p.A317V|DEM1_uc021omb.1_Missense_Mutation_p.A317V	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	Homo sapiens defects in morphology 1 homolog (S. cerevisiae) (DEM1), mRNA.	317							DNA binding|exonuclease activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|urinary_tract(2)	10						GAGGTGAGAGCCAAGGTGCAG	0.522													T	40981166	C	T	40981166	3	4	4	1	0	0	0	0	1	0	0	0	4425	739	26	2	952	2	DEM1	1	40981166	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	93444	40981166	208269455	97	2162											
KCNQ4	9132	broad.mit.edu	37	chr1	41300742	41300742	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaggccacctggacatgCtgggccggatcaagagcctg	14	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:41300742C>T	uc001cgh.2	+	11	1799	c.1717C>T	c.(1717-1719)Ctg>Ttg	p.L573L	KCNQ4_uc001cgi.2_Silent_p.L519L	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	573	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CCTGGACATGCTGGGCCGGAT	0.602													T	41300742	C	T	41300742	2	4	4	1	0	0	0	0	0	0	0	1	8085	796	28	2		2	KCNQ4	1	41300742	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	319576	41300742	207949879	98	2163											
SLFNL1	200172	broad.mit.edu	37	chr1	41483534	41483534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggcgcacacgtagcgccGcacgtggtgcttgaaggcca	15	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:41483534G>A	uc009vwg.1	-	3	1114	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	LOC100507178_uc021omd.1_Non-coding_Transcript|SLFNL1_uc009vwf.1_Missense_Mutation_p.R244W|SLFNL1_uc001cgn.2_Missense_Mutation_p.R185W|SLFNL1_uc001cgm.2_Missense_Mutation_p.R244W	NM_001168247	NP_659427	Q499Z3	SLNL1_HUMAN	Homo sapiens schlafen-like 1 (SLFNL1), transcript variant 2, mRNA.	244							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				ACGTAGCGCCGCACGTGGTGC	0.662													A	41483534	G	A	41483534	3	1	4	1	0	0	0	0	1	0	0	0	14738	1086	38	1	505	1	SLFNL1	1	41483534	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	182792	41483534	207767087	99	2164											
FOXJ3	22887	broad.mit.edu	37	chr1	42664858	42664858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgttgttaaggctactgCgtgggctatcactaccatcc	10	11	1	0	rs146466322		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:42664858C>T	uc001che.3	-	8	986	c.674G>A	c.(673-675)cGc>cAc	p.R225H	FOXJ3_uc001chf.3_Missense_Mutation_p.R225H|FOXJ3_uc001chh.2_Missense_Mutation_p.R191H|FOXJ3_uc001chg.3_Missense_Mutation_p.R225H	NM_001198851	NP_001185780	Q9UPW0	FOXJ3_HUMAN	Homo sapiens forkhead box J3 (FOXJ3), transcript variant 3, mRNA.	225					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AAGGCTACTGCGTGGGCTATC	0.373													T	42664858	C	T	42664858	3	4	4	1	0	0	0	0	1	0	0	0	6013	768	27	1	1222	1	FOXJ3	1	42664858	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1181324	42664858	206585763	100	2165											
LEPRE1	64175	broad.mit.edu	37	chr1	43213468	43213468	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatttaggtaaaggatggCgctgggaaaggcagagacat	14	7	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:43213468C>T	uc001chx.4	-	13	1952	c.1839_splice	c.e13-1	p.S613_splice	LEPRE1_uc001chw.2_Splice_Site_p.S613_splice|LEPRE1_uc001chv.2_Splice_Site_p.S613_splice	NM_001243246	NP_001230175	Q32P28	P3H1_HUMAN	Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA.	613	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TAAAGGATGGCGCTGGGAAAG	0.557													T	43213468	C	T	43213468	5	4	4	1	0	0	0	0	0	0	1	0	8729	782	27	1	401	1	LEPRE1	1	43213468	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	548610	43213468	206037153	101	2166											
SLC2A1	6513	broad.mit.edu	37	chr1	43396803	43396803	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccactgagagggaccagagCgtggtgagcgtggtgggcag	20	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:43396803C>T	uc001cik.2	-	2	714	c.189G>A	c.(187-189)acG>acA	p.T63T		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	63					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GGGACCAGAGCGTGGTGAGCG	0.587											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	43396803	C	T	43396803	2	4	4	1	0	0	0	0	0	0	0	1	14538	755	27	1		1	SLC2A1	1	43396803	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	183335	43396803	205853818	102	2167											
EBNA1BP2	10969	broad.mit.edu	37	chr1	43634619	43634619	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttctcaccttcttcccGtatttcctaagtgctcgcag	5	14	3	0	rs142130646	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:43634619G>A	uc010ojx.2	-	5	842	c.693C>T	c.(691-693)taC>taT	p.Y231Y	EBNA1BP2_uc001cio.3_Silent_p.Y231Y|EBNA1BP2_uc001cin.3_Silent_p.Y176Y	NM_001159936	NP_006815	Q99848	EBP2_HUMAN	Homo sapiens EBNA1 binding protein 2 (EBNA1BP2), transcript variant 1, mRNA.	176					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTTCTTCCCGTATTTCCTAA	0.493													A	43634619	G	A	43634619	2	1	4	1	0	0	0	0	0	0	0	1	4885	1140	40	1		1	EBNA1BP2	1	43634619	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	237816	43634619	205616002	103	2168											
PTPRF	5792	broad.mit.edu	37	chr1	44086246	44086246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagttcaaggtcacggatgCccgggtgagtgagtgcattg	16	7	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:44086246C>T	uc001cjr.3	+	30	5700	c.5360C>T	c.(5359-5361)gCc>gTc	p.A1787V	PTPRF_uc001cjs.3_Missense_Mutation_p.A1778V|PTPRF_uc001cju.3_Missense_Mutation_p.A1176V|PTPRF_uc009vwt.3_Missense_Mutation_p.A1347V|PTPRF_uc001cjv.3_Missense_Mutation_p.A1258V|PTPRF_uc001cjw.3_Missense_Mutation_p.A1013V	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1787	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTCACGGATGCCCGGGTGAGT	0.547													T	44086246	C	T	44086246	3	4	4	1	0	0	0	0	1	0	0	0	12801	739	26	2	5474	2	PTPRF	1	44086246	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	451627	44086246	205164375	104	2169											
KDM4A	9682	broad.mit.edu	37	chr1	44128589	44128589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgagtggaatattggcCggctgagaacaatcctggac	13	7	0	3	rs140820309		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:44128589C>T	uc001cjx.3	+	4	620	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	KDM4A_uc010oki.2_Missense_Mutation_p.R152W	NM_014663	NP_055478	O75164	KDM4A_HUMAN	Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA.	152	JmjC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	p.R152W(2)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GAATATTGGCCGGCTGAGAAC	0.478													T	44128589	C	T	44128589	3	4	4	1	0	0	0	0	1	0	0	0	8128	643	23	1	468	1	KDM4A	1	44128589	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	42343	44128589	205122032	105	2170											
KDM4A	9682	broad.mit.edu	37	chr1	44137305	44137305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcgtctgtagggggacGccttgtcttctcaggctcca	12	13	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:44137305G>A	uc001cjx.3	+	10	1659	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	KDM4A_uc010oki.2_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA.	498					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GTAGGGGGACGCCTTGTCTTC	0.478													A	44137305	G	A	44137305	3	1	4	1	0	0	0	0	1	0	0	0	8128	1087	38	1	1531	1	KDM4A	1	44137305	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	8716	44137305	205113316	106	2171											
B4GALT2	8704	broad.mit.edu	37	chr1	44446911	44446911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgctgcacttcctcgtgGccgtcatcctctactttgac	8	16	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:44446911G>A	uc010okl.2	+	1	242	c.166G>A	c.(166-168)Gcc>Acc	p.A56T	B4GALT2_uc001clg.3_Missense_Mutation_p.A27T|B4GALT2_uc001clh.3_5'UTR|B4GALT2_uc001cli.3_Missense_Mutation_p.A27T	NM_030587	NP_085076	O60909	B4GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 (B4GALT2), transcript variant 1, mRNA.	27					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CTTCCTCGTGGCCGTCATCCT	0.667													A	44446911	G	A	44446911	3	1	4	1	0	0	0	0	1	0	0	0	1271	1203	42	2	81	2	B4GALT2	1	44446911	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	309606	44446911	204803710	107	2172											
SLC6A9	6536	broad.mit.edu	37	chr1	44467145	44467145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggaagtagtgtgagggcctCggggtaagccacgaaggcca	18	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:44467145C>T	uc001cll.3	-	8	1528	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	SLC6A9_uc009vxe.2_Missense_Mutation_p.E302K|SLC6A9_uc010okm.1_Missense_Mutation_p.E373K|SLC6A9_uc001clm.3_Missense_Mutation_p.E392K|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Missense_Mutation_p.E377K|SLC6A9_uc010oko.2_Missense_Mutation_p.E262K|SLC6A9_uc001cln.3_Missense_Mutation_p.E373K|SLC6A9_uc010okp.1_Non-coding_Transcript	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	446						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GTGAGGGCCTCGGGGTAAGCC	0.617													T	44467145	C	T	44467145	3	4	4	1	0	0	0	0	1	0	0	0	14691	893	31	1	808	1	SLC6A9	1	44467145	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	20234	44467145	204783476	108	2173											
RNF220	55182	broad.mit.edu	37	chr1	44877906	44877906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcccttgtcagcagccacGaccctttggtgtacctgtct	8	15	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:44877906G>A	uc001clv.1	+	1	497	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	RNF220_uc001clw.1_Missense_Mutation_p.R46Q	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	46					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	p.R46P(3)		endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CAGCAGCCACGACCCTTTGGT	0.557													A	44877906	G	A	44877906	3	1	4	1	0	0	0	0	1	0	0	0	13483	1058	37	1	139	1	RNF220	1	44877906	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	410761	44877906	204372715	109	2174											
RNF220	55182	broad.mit.edu	37	chr1	45110700	45110700	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcatcccctgcacaggCgaggagcctggtgaagccaa	13	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:45110700C>T	uc001clv.1	+	9	1617	c.1257C>T	c.(1255-1257)ggC>ggT	p.G419G	RNF220_uc001clw.1_Silent_p.G419G|RNF220_uc010oky.1_Silent_p.G206G|RNF220_uc010okz.2_Silent_p.G161G|RNF220_uc001clx.2_Silent_p.G135G|RNF220_uc001cma.1_Silent_p.G98G	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	419					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CCTGCACAGGCGAGGAGCCTG	0.572													T	45110700	C	T	45110700	2	4	4	1	0	0	0	0	0	0	0	1	13483	755	27	1		1	RNF220	1	45110700	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	232794	45110700	204139921	110	2175											
TAL1	6886	broad.mit.edu	37	chr1	47689698	47689698	+	Frame_Shift_Del	DEL	G	G	-													tcagtaatctccatctcataGggggaaggtctcctcttcac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:47689697_47689697AG>A	uc001cqx.2	-	2	1097	c.520_520CT>T	c.(520-522)tatfs	p.Y174fs	TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Frame_Shift_Del_p.Y174fs|TAL1_uc001cra.1_Non-coding_Transcript|TAL1_uc001cqz.1_Non-coding_Transcript	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	174					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TCCATCTCATAGGGGGAAGGT	0.572			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic								-	47689698	G	-	47689698	7	5	4	1	0	1	0	1	0	0	0	0	15538	987	35	0	484	0	TAL1	1	47689698	Frame_Shift_Del	DEL	G	TCGA-BR-4184-01A-01D-1126-08	2578998	47689698	201560923	111	2176											
BEND5	79656	broad.mit.edu	37	chr1	49208298	49208298	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagcttaaaacactaccttGccattgtctaggatatactt	6	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:49208298G>T	uc001crx.4	-	3	935	c.891C>A	c.(889-891)ggC>ggA	p.G297G	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc010omy.1_Intron|AGBL4_uc001crv.1_Intron|BEND5_uc001crw.4_Silent_p.G128G	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	Homo sapiens BEN domain containing 5 (BEND5), mRNA.	297										large_intestine(5)|lung(2)|skin(1)	8						ACACTACCTTGCCATTGTCTA	0.483													T	49208298	G	T	49208298	2	4	4	1	0	0	0	0	0	0	0	1	1401	1306	46	5		5	BEND5	1	49208298	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1518600	49208298	200042323	112	2177											
FAF1	11124	broad.mit.edu	37	chr1	51050377	51050377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattggagattttctcaagGcagatgacgccatgccaaat	9	9	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:51050377G>A	uc001cse.1	-	9	1400	c.947C>T	c.(946-948)gCc>gTc	p.A316V	FAF1_uc009vyw.1_Intron|FAF1_uc010onc.1_Missense_Mutation_p.A74V	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA.	316					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	NF-kappaB binding|heat shock protein binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TTTTCTCAAGGCAGATGACGC	0.383													A	51050377	G	A	51050377	3	1	4	1	0	0	0	0	1	0	0	0	5369	1203	42	2	1045	2	FAF1	1	51050377	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1842079	51050377	198200244	113	2178											
TTC39A	22996	broad.mit.edu	37	chr1	51767382	51767382	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgctgctgggcctcacaGcactcctcgaaacgccggat	11	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:51767382G>A	uc001csl.3	-	11	1128	c.1023C>T	c.(1021-1023)tgC>tgT	p.C341C	TTC39A_uc001csk.3_Silent_p.C306C|TTC39A_uc010ond.2_Silent_p.C278C|TTC39A_uc010one.2_Silent_p.C305C|TTC39A_uc010onf.2_Silent_p.C309C|TTC39A_uc001csn.3_Silent_p.C340C|TTC39A_uc001cso.1_3'UTR|TTC39A_uc009vyy.1_Silent_p.C278C	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.	341							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						GGGCCTCACAGCACTCCTCGA	0.607													A	51767382	G	A	51767382	2	1	4	1	0	0	0	0	0	0	0	1	16704	963	34	2		2	TTC39A	1	51767382	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	717005	51767382	197483239	114	2179											
BTF3L4	91408	broad.mit.edu	37	chr1	52530571	52530571	+	Frame_Shift_Del	DEL	A	A	-													aaaaagcttcagagttctctAaaaaaactggctgtgaataa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:52530570_52530570TA>T	uc001ctk.3	+	2	336	c.128_128TA>T	c.(127-129)ctafs	p.L43fs	BTF3L4_uc001ctl.3_5'UTR|BTF3L4_uc010onh.2_Frame_Shift_Del_p.L43fs	NM_152265	NP_001129969	Q96K17	BT3L4_HUMAN	Homo sapiens basic transcription factor 3-like 4 (BTF3L4), transcript variant 1, mRNA.	43	NAC-A/B.							p.L43V(1)		endometrium(2)|kidney(1)|large_intestine(2)	5						CAGAGTTCTCTAAAAAAACTG	0.388													-	52530571	A	-	52530571	7	5	4	1	0	1	0	1	0	0	0	0	1552	349	13	0	135	0	BTF3L4	1	52530571	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	763189	52530571	196720050	115	2180											
ZCCHC11	23318	broad.mit.edu	37	chr1	52954594	52954594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttaccttagcccagtagCgaaaggctaacaccaaggga	9	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:52954594C>T	uc001cty.2	-	8	1755	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	ZCCHC11_uc001ctx.2_Missense_Mutation_p.R501H|ZCCHC11_uc009vze.1_Missense_Mutation_p.R501H|ZCCHC11_uc009vzf.1_Missense_Mutation_p.R260H|ZCCHC11_uc001cub.3_Missense_Mutation_p.R501H|ZCCHC11_uc001cuc.2_Non-coding_Transcript	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	501					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	p.R501C(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGCCCAGTAGCGAAAGGCTAA	0.373													T	52954594	C	T	52954594	3	4	4	1	0	0	0	0	1	0	0	0	17577	768	27	1	3523	1	ZCCHC11	1	52954594	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	424023	52954594	196296027	116	2181											
CYP2J2	1573	broad.mit.edu	37	chr1	60375619	60375619	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaatttcattatccatggaAagacattgtagagctaattg	9	5	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:60375619A>G	uc001czq.3	-	4	703	c.698T>C	c.(697-699)tTt>tCt	p.F233S		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	233					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					TATCCATGGAAAGACATTGTA	0.358													G	60375619	A	G	60375619	3	3	4	1	0	0	0	0	1	0	0	0	4172	14	1	3	830	3	CYP2J2	1	60375619	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	7421025	60375619	188875002	117	2182											
INADL	10207	broad.mit.edu	37	chr1	62293227	62293227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtagatgaaccaaggcGcactgaaacctctcttcctg	8	12	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:62293227G>A	uc001dab.3	+	15	2066	c.1952G>A	c.(1951-1953)cGc>cAc	p.R651H	INADL_uc009waf.1_Missense_Mutation_p.R651H|INADL_uc001daa.2_Missense_Mutation_p.R651H|INADL_uc001dad.3_Missense_Mutation_p.R348H|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	651					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.R651R(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GAACCAAGGCGCACTGAAACC	0.463													A	62293227	G	A	62293227	3	1	4	1	0	0	0	0	1	0	0	0	7731	1087	38	1	2010	1	INADL	1	62293227	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1917608	62293227	186957394	118	2183											
DOCK7	85440	broad.mit.edu	37	chr1	62993865	62993865	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggccttgttagttgagggAccgatgtccctgcgattgcc	13	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:62993865A>G	uc001daq.3	-	30	3927	c.3893T>C	c.(3892-3894)gTc>gCc	p.V1298A	DOCK7_uc001dan.3_Missense_Mutation_p.V1159A|DOCK7_uc001dao.3_Missense_Mutation_p.V1159A|DOCK7_uc001dap.3_Missense_Mutation_p.V1267A|DOCK7_uc001dam.3_Missense_Mutation_p.V478A|DOCK7_uc010oov.1_Intron	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	1298					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TAGTTGAGGGACCGATGTCCC	0.433													G	62993865	A	G	62993865	3	3	4	1	0	0	0	0	1	0	0	0	4692	275	10	3	2609	3	DOCK7	1	62993865	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	700638	62993865	186256756	119	2184											
DOCK7	85440	broad.mit.edu	37	chr1	63113777	63113777	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatatgcaaacatctatacCtcatctggtgatggatgcaa	7	8	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:63113777C>T	uc001daq.3	-	6	766	c.732_splice	c.e6+1	p.E244_splice	DOCK7_uc001dan.3_Splice_Site_p.E136_splice|DOCK7_uc001dao.3_Splice_Site_p.E136_splice|DOCK7_uc001dap.3_Splice_Site_p.E244_splice|DOCK7_uc009wah.1_Splice_Site_p.E244_splice	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	244					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ACATCTATACCTCATCTGGTG	0.323													T	63113777	C	T	63113777	5	4	4	1	0	0	0	0	0	0	1	0	4692	695	24	4	5773	4	DOCK7	1	63113777	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	119912	63113777	186136844	120	2185											
ITGB3BP	23421	broad.mit.edu	37	chr1	63912521	63912521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcatagctgtcaagatgaCgtgatgctatatgaaagaag	10	5	2	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:63912521C>T	uc001dbb.2	-	8	748	c.608G>A	c.(607-609)cGt>cAt	p.R203H	ITGB3BP_uc001dbc.2_Non-coding_Transcript|ITGB3BP_uc001dba.2_Missense_Mutation_p.R164H	NM_001206739	NP_001193668	Q13352	CENPR_HUMAN	Homo sapiens integrin beta 3 binding protein (beta3-endonexin) (ITGB3BP), transcript variant 1, mRNA.	164					CenH3-containing nucleosome assembly at centromere|apoptosis|cell adhesion|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						GTCAAGATGACGTGATGCTAT	0.313													T	63912521	C	T	63912521	3	4	4	1	0	0	0	0	1	0	0	0	7896	536	19	1	46	1	ITGB3BP	1	63912521	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	798744	63912521	185338100	121	2186											
EFCAB7	84455	broad.mit.edu	37	chr1	63991248	63991248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attattttccaatagaatggCgatcagtccacgaagcgatg	9	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:63991248C>T	uc001dbf.3	+	1	299	c.5C>T	c.(4-6)gCg>gTg	p.A2V	ITGB3BP_uc001dbc.2_5'Flank|ITGB3BP_uc001dbb.2_5'Flank|ITGB3BP_uc001dba.2_5'Flank|ITGB3BP_uc009wak.1_5'Flank	NM_032437	NP_115813	A8K855	EFCB7_HUMAN	Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.	2							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AATAGAATGGCGATCAGTCCA	0.368													T	63991248	C	T	63991248	3	4	4	1	0	0	0	0	1	0	0	0	4940	768	27	1	7	1	EFCAB7	1	63991248	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	78727	63991248	185259373	122	2187											
EFCAB7	84455	broad.mit.edu	37	chr1	63999206	63999206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttgacagtaaattgatgCgtcaccagtttggaaaccac	10	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:63999206C>T	uc001dbf.3	+	4	862	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.	190							calcium ion binding	p.R190H(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						TAAATTGATGCGTCACCAGTT	0.393													T	63999206	C	T	63999206	3	4	4	1	0	0	0	0	1	0	0	0	4940	768	27	1	582	1	EFCAB7	1	63999206	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	7958	63999206	185251415	123	2188											
EFCAB7	84455	broad.mit.edu	37	chr1	64034139	64034139	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatggctatgaaaatataatCgtgcatacttacagttgtga	9	5	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:64034139C>T	uc001dbf.3	+	11	1950	c.1656C>T	c.(1654-1656)atC>atT	p.I552I		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.	552							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AAAATATAATCGTGCATACTT	0.378													T	64034139	C	T	64034139	2	4	4	1	0	0	0	0	0	0	0	1	4940	874	31	1		1	EFCAB7	1	64034139	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	34933	64034139	185216482	124	2189											
CACHD1	57685	broad.mit.edu	37	chr1	65138932	65138932	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggagcagcagcacatcAcccacaaggtatttgtcaca	9	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:65138932A>G	uc001dbo.1	+	17	2554	c.2449A>G	c.(2449-2451)Acc>Gcc	p.T817A	CACHD1_uc001dbp.1_Missense_Mutation_p.T572A|CACHD1_uc001dbq.1_Missense_Mutation_p.T572A|CACHD1_uc010opa.1_Missense_Mutation_p.T61A	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	868	Cache 2.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCAGCACATCACCCACAAGGT	0.522													G	65138932	A	G	65138932	3	3	4	1	0	0	0	0	1	0	0	0	2537	159	6	3	2519	3	CACHD1	1	65138932	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1104793	65138932	184111689	125	2190											
JAK1	3716	broad.mit.edu	37	chr1	65344791	65344791	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccagagcttggtgttctcGtcatacagggcaaagaggtt	12	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:65344791G>A	uc001dbu.1	-	3	495	c.246C>T	c.(244-246)gaC>gaT	p.D82D	JAK1_uc009wam.1_Silent_p.D82D|JAK1_uc001dbv.3_5'Flank	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	82	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.Y81*(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TGGTGTTCTCGTCATACAGGG	0.468			Mis		ALL								A	65344791	G	A	65344791	2	1	4	1	0	0	0	0	0	0	0	1	7937	1136	40	1		1	JAK1	1	65344791	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	205859	65344791	183905830	126	2191											
DNAJC6	9829	broad.mit.edu	37	chr1	65851520	65851520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacagaggaatggatgtcGcccttactgtgatgtactca	10	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:65851520G>A	uc001dce.1	+	6	1127	c.926G>A	c.(925-927)cGc>cAc	p.R309H	DNAJC6_uc001dcc.1_Missense_Mutation_p.R283H|DNAJC6_uc001dcd.1_Missense_Mutation_p.R252H|DNAJC6_uc010opc.1_Missense_Mutation_p.R239H	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	252	C2 tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AATGGATGTCGCCCTTACTGT	0.418													A	65851520	G	A	65851520	3	1	4	1	0	0	0	0	1	0	0	0	4653	1087	38	1	781	1	DNAJC6	1	65851520	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	506729	65851520	183399101	127	2192											
IL23R	149233	broad.mit.edu	37	chr1	67724598	67724598	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaatcaaggagaatgcagTtctcctgacatacaaaactc	6	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:67724598T>G	uc001ddo.3	+	10	1762	c.1677T>G	c.(1675-1677)agT>agG	p.S559R	IL23R_uc009waz.3_Missense_Mutation_p.S356R|IL23R_uc010opi.2_Non-coding_Transcript|IL23R_uc010opj.2_Missense_Mutation_p.S157R|IL23R_uc010opk.2_3'UTR|IL23R_uc010opl.2_Missense_Mutation_p.S141R|IL23R_uc010opm.2_Non-coding_Transcript|IL23R_uc001ddq.3_Missense_Mutation_p.S305R|IL23R_uc010opn.2_Missense_Mutation_p.S404R|IL23R_uc001ddr.3_Non-coding_Transcript|IL23R_uc010oqh.2_Missense_Mutation_p.S200R|IL23R_uc010oqf.2_Missense_Mutation_p.S157R|IL23R_uc010ops.2_Missense_Mutation_p.S356R|IL23R_uc010opt.2_Missense_Mutation_p.S200R|IL23R_uc010opu.2_Missense_Mutation_p.S255R|IL23R_uc010opv.2_Missense_Mutation_p.S317R|IL23R_uc010opw.2_Missense_Mutation_p.S194R|IL23R_uc010opx.2_Missense_Mutation_p.S200R|IL23R_uc010opy.2_Missense_Mutation_p.S326R|IL23R_uc010opz.2_Missense_Mutation_p.S200R|IL23R_uc010oqa.2_Missense_Mutation_p.S200R|IL23R_uc010oqb.2_Missense_Mutation_p.S388R|IL23R_uc010oqc.2_Missense_Mutation_p.S275R|IL23R_uc010oqd.2_Missense_Mutation_p.S194R|IL23R_uc010oqe.2_Missense_Mutation_p.S157R|IL23R_uc010oqg.2_Missense_Mutation_p.S157R|IL23R_uc001dds.3_Missense_Mutation_p.S304R|IL23R_uc001ddt.3_Missense_Mutation_p.S157R	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	Homo sapiens interleukin 23 receptor (IL23R), mRNA.	559					inflammatory response|negative regulation of interleukin-10 production|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						GAGAATGCAGTTCTCCTGACA	0.383													G	67724598	T	G	67724598	3	3	4	1	0	0	0	0	1	0	0	0	7676	1722	60	5	1715	5	IL23R	1	67724598	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1873078	67724598	181526023	128	2193											
IL12RB2	3595	broad.mit.edu	37	chr1	67838350	67838350	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatgccatcacagaggaaaAggggagcattttaatttcat	9	6	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:67838350A>G	uc001ddu.3	+	11	2241	c.1601A>G	c.(1600-1602)aAg>aGg	p.K534R	IL12RB2_uc010oqi.2_Missense_Mutation_p.K534R|IL12RB2_uc010oqj.2_Missense_Mutation_p.K534R|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Intron|IL12RB2_uc010oqm.2_Missense_Mutation_p.K534R|IL12RB2_uc010oqn.2_Intron	NM_001559	NP_001550	Q99665	I12R2_HUMAN	Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA.	534	Fibronectin type-III 5.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						ACAGAGGAAAAGGGGAGCATT	0.478													G	67838350	A	G	67838350	3	3	4	1	0	0	0	0	1	0	0	0	7627	72	3	3	1643	3	IL12RB2	1	67838350	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	113752	67838350	181412271	129	2194											
GNG12	55970	broad.mit.edu	37	chr1	68171151	68171151	+	Frame_Shift_Del	DEL	T	T	-													ccactataagatgatgcaagTttttttatccttgaaagggt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:68171150_68171150GT>G	uc001dea.2	-	3	408	c.203_203AC>C	c.(202-204)actfs	p.T68fs		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 12 (GNG12), mRNA.	68					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						GATGATGCAAGTTTTTTTATC	0.433													-	68171151	T	-	68171151	7	5	4	1	0	1	0	1	0	0	0	0	6525	1725	60	0	20	0	GNG12	1	68171151	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	332801	68171151	181079470	130	2195											
WLS	79971	broad.mit.edu	37	chr1	68659743	68659743	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggggaatgtgaacagaaaAcacgatgtcattggcttcaa	12	6	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:68659743A>C	uc001dee.3	-	1	570	c.268T>G	c.(268-270)Ttt>Gtt	p.F90V	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|WLS_uc001def.2_Missense_Mutation_p.F92V|WLS_uc001deg.2_Intron|WLS_uc001deh.2_Missense_Mutation_p.F92V|WLS_uc009wbf.1_Missense_Mutation_p.F47V|WLS_uc021oor.1_Missense_Mutation_p.F47V	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	Homo sapiens wntless homolog (Drosophila) (WLS), transcript variant 2, mRNA.	92					Wnt receptor signaling pathway|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of canonical Wnt receptor signaling pathway	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TGAACAGAAAACACGATGTCA	0.463													C	68659743	A	C	68659743	3	2	4	1	0	0	0	0	1	0	0	0	17373	43	2	5	1521	5	WLS	1	68659743	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	488592	68659743	180590878	131	2196											
RPE65	6121	broad.mit.edu	37	chr1	68912408	68912408	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttaccttctgtggtatgtgAcatgtccttctttaaagtca	7	8	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:68912408A>T	uc001dei.1	-	2	284	c.230T>A	c.(229-231)gTc>gAc	p.V77D		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	77					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GTGGTATGTGACATGTCCTTC	0.502													T	68912408	A	T	68912408	3	4	4	1	0	0	0	0	1	0	0	0	13545	275	10	5	1419	5	RPE65	1	68912408	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	252665	68912408	180338213	132	2197											
LRRC7	57554	broad.mit.edu	37	chr1	70478695	70478695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaacagtcatgtctctacgCtccaacaaattagaatttct	5	10	3	1	rs149111202	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:70478695C>T	uc001dep.3	+	10	1089	c.1059C>T	c.(1057-1059)cgC>cgT	p.R353R	LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	353						centrosome|focal adhesion|nucleolus	protein binding	p.R353S(1)|p.R353C(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGTCTCTACGCTCCAACAAAT	0.313													T	70478695	C	T	70478695	2	4	4	1	0	0	0	0	0	0	0	1	9020	784	28	2		2	LRRC7	1	70478695	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1566287	70478695	178771926	133	2198											
ANKRD13C	81573	broad.mit.edu	37	chr1	70766510	70766510	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actacaaaagattcagagggCgccgcatccccattgaaaat	8	11	1	3	rs138861589		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:70766510C>T	uc001dex.4	-	6	1184	c.858G>A	c.(856-858)gcG>gcA	p.A286A	ANKRD13C_uc009wbk.3_Silent_p.A251A	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	Homo sapiens ankyrin repeat domain 13C (ANKRD13C), mRNA.	286					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						ATTCAGAGGGCGCCGCATCCC	0.393													T	70766510	C	T	70766510	2	4	4	1	0	0	0	0	0	0	0	1	643	755	27	1		1	ANKRD13C	1	70766510	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	287815	70766510	178484111	134	2199											
MSH4	4438	broad.mit.edu	37	chr1	76272758	76272758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggtgaaataggaatgGcaagtattgatttaaaaaac	10	4	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:76272758G>A	uc001dhd.2	+	2	635	c.520G>A	c.(520-522)Gca>Aca	p.A174T		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	174					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AATAGGAATGGCAAGTATTGA	0.383								Mismatch excision repair (MMR)					A	76272758	G	A	76272758	3	1	4	1	0	0	0	0	1	0	0	0	9872	1203	42	2	530	2	MSH4	1	76272758	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5506248	76272758	172977863	135	2200											
MSH4	4438	broad.mit.edu	37	chr1	76272778	76272778	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaagtattgatttaaaaaaCccccaaattatactatccca	3	10	0	1	rs144700439	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:76272778C>A	uc001dhd.2	+	2	655	c.540C>A	c.(538-540)aaC>aaA	p.N180K		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	180					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	p.N180K(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ATTTAAAAAACCCCCAAATTA	0.393								Mismatch excision repair (MMR)					A	76272778	C	A	76272778	3	1	4	1	0	0	0	0	1	0	0	0	9872	506	18	5	550	5	MSH4	1	76272778	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	20	76272778	172977843	136	2201											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	76877955	76877955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttatttggggacctttccGcaatatgaggaaagatggca	12	6	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:76877955G>A	uc001dhh.2	+	2	639	c.476G>A	c.(475-477)cGc>cAc	p.R159H	ST6GALNAC3_uc001dhg.4_Missense_Mutation_p.R159H|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.R94H	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.	159					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GGACCTTTCCGCAATATGAGG	0.408													A	76877955	G	A	76877955	3	1	4	1	0	0	0	0	1	0	0	0	15224	1087	38	1	486	1	ST6GALNAC3	1	76877955	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	605177	76877955	172372666	137	2202											
USP33	23032	broad.mit.edu	37	chr1	78187762	78187762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgtggagcatatgcttcGccacatgatcctgctttgac	9	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:78187762G>A	uc001dht.3	-	13	1949	c.1602C>T	c.(1600-1602)ggC>ggT	p.G534G	USP33_uc001dhs.3_Silent_p.G255G|USP33_uc001dhu.3_Silent_p.G503G|USP33_uc001dhv.3_Silent_p.G339G|USP33_uc001dhw.3_Silent_p.G534G	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	534					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.C533Y(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CATATGCTTCGCCACATGATC	0.398													A	78187762	G	A	78187762	2	1	4	1	0	0	0	0	0	0	0	1	17061	1074	38	1		1	USP33	1	78187762	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1309807	78187762	171062859	138	2203											
FAM73A	374986	broad.mit.edu	37	chr1	78272690	78272690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaattcttgtcatagctgcGcttgtggcaattctaattcc	7	10	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:78272690G>A	uc010ork.2	+	4	573	c.541G>A	c.(541-543)Gct>Act	p.A181T	FAM73A_uc001dhx.3_Missense_Mutation_p.A181T|FAM73A_uc010orl.2_Missense_Mutation_p.A143T|FAM73A_uc001dhy.1_5'UTR	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA.	181						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TCATAGCTGCGCTTGTGGCAA	0.348													A	78272690	G	A	78272690	3	1	4	1	0	0	0	0	1	0	0	0	5617	1087	38	1	559	1	FAM73A	1	78272690	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	84928	78272690	170977931	139	2204											
NEXN	91624	broad.mit.edu	37	chr1	78383873	78383873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggaacaaaggaagagaaCggaggaggaacgaaaacgca	15	5	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:78383873C>T	uc001dic.4	+	4	659	c.362C>T	c.(361-363)aCg>aTg	p.T121M	NEXN_uc001dia.3_Missense_Mutation_p.T121M|NEXN_uc009wcb.1_Missense_Mutation_p.T57M|NEXN_uc001dib.4_Missense_Mutation_p.T57M|NEXN_uc001did.1_Missense_Mutation_p.T45M|NEXN_uc001dif.1_Missense_Mutation_p.T13M	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	121	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AGGAAGAGAACGGAGGAGGAA	0.368													T	78383873	C	T	78383873	3	4	4	1	0	0	0	0	1	0	0	0	10355	536	19	1	376	1	NEXN	1	78383873	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	111183	78383873	170866748	140	2205											
IFI44	10561	broad.mit.edu	37	chr1	79128420	79128420	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaaagaaaacttggatttgCtctttctgacatctcggtgg	9	9	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:79128420C>A	uc001dip.4	+	7	1269	c.1145C>A	c.(1144-1146)gCt>gAt	p.A382D		NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN	Homo sapiens interferon-induced protein 44 (IFI44), mRNA.	382					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						CTTGGATTTGCTCTTTCTGAC	0.358													A	79128420	C	A	79128420	3	1	4	1	0	0	0	0	1	0	0	0	7517	797	28	5	1171	5	IFI44	1	79128420	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	744547	79128420	170122201	141	2206											
RPF1	80135	broad.mit.edu	37	chr1	84961086	84961086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgagtcacttgccaaatgGcccaactgctcattttaaaa	6	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:84961086G>A	uc001djv.4	+	5	692	c.647G>A	c.(646-648)gGc>gAc	p.G216D		NM_025065	NP_079341	Q9H9Y2	RPF1_HUMAN	Homo sapiens ribosome production factor 1 homolog (S. cerevisiae) (RPF1), mRNA.	216	Brix.				rRNA processing|translation	nucleolus	ATP binding|aminoacyl-tRNA ligase activity|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TTGCCAAATGGCCCAACTGCT	0.313													A	84961086	G	A	84961086	3	1	4	1	0	0	0	0	1	0	0	0	13546	1203	42	2	669	2	RPF1	1	84961086	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5832666	84961086	164289535	142	2207											
LPAR3	23566	broad.mit.edu	37	chr1	85331764	85331765	+	Frame_Shift_Ins	INS	-	-	A													tcagtgttgctcctattataINSaaaaaagtccatgtgcttgt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:85331763_85331764T>TA	uc001dkl.2	-	0	79_80	c.40_41A>TA	c.(40-42)tatfs	p.Y14fs	LPAR3_uc009wcj.1_Frame_Shift_Ins_p.Y14fs	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	14					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GCTCCTATTATAAAAAAAGTCC	0.337													A	85331765	-	A	85331764	7	5	4	1	0	1	1	0	0	0	0	0	8906	362	13	0	1029	0	LPAR3	1	85331764	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	370678	85331764	163918857	143	2208											
WDR63	126820	broad.mit.edu	37	chr1	85559307	85559307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagaaaatgattacctgtGtctcatggcatccaactatc	8	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:85559307G>A	uc001dkt.3	+	8	1215	c.1024G>A	c.(1024-1026)Gtc>Atc	p.V342I	WDR63_uc009wcl.3_Missense_Mutation_p.V303I	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	342										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GATTACCTGTGTCTCATGGCA	0.423													A	85559307	G	A	85559307	3	1	4	1	0	0	0	0	1	0	0	0	17311	1377	48	4	1054	4	WDR63	1	85559307	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	227543	85559307	163691314	144	2209											
COL24A1	255631	broad.mit.edu	37	chr1	86590944	86590944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctttggtattcatttttgCctcactgatgcgatgagtgg	10	8	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:86590944C>T	uc001dlj.3	-	2	1150	c.1075G>A	c.(1075-1077)Gca>Aca	p.A359T	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.A359T	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	359					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTCATTTTTGCCTCACTGATG	0.403													T	86590944	C	T	86590944	3	4	4	1	0	0	0	0	1	0	0	0	3683	739	26	2	4301	2	COL24A1	1	86590944	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1031637	86590944	162659677	145	2210											
COL24A1	255631	broad.mit.edu	37	chr1	86591810	86591810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggaccccctgaggtaacGgtgtagatgctgatggtaca	13	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:86591810G>A	uc001dlj.3	-	2	284	c.209C>T	c.(208-210)cCg>cTg	p.P70L	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.P70L	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	70	TSP N-terminal.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTGAGGTAACGGTGTAGATGC	0.418													A	86591810	G	A	86591810	3	1	4	1	0	0	0	0	1	0	0	0	3683	1116	39	1	5167	1	COL24A1	1	86591810	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	866	86591810	162658811	146	2211											
CLCA2	9635	broad.mit.edu	37	chr1	86900199	86900199	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagactgtttttatttccAggtggttgaattttgtaatg	9	3	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:86900199A>G	uc001dlr.4	+	6	907	c.745_splice	c.e6-2	p.V249_splice		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	249					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TTTTATTTCCAGGTGGTTGAA	0.398													G	86900199	A	G	86900199	5	3	4	1	0	0	0	0	0	0	1	0	3458	202	7	3	765	3	CLCA2	1	86900199	Splice_Site	SNP	A	TCGA-BR-4184-01A-01D-1126-08	308389	86900199	162350422	147	2212											
SEP15	9403	broad.mit.edu	37	chr1	87333766	87333766	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcctctgaacagtttgggTttatcactcctaacaaaagc	7	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:87333766T>C	uc021oph.1	-	3	649	c.336A>G	c.(334-336)aaA>aaG	p.K112K	SEP15_uc021opi.1_Intron	NM_004261		O60613	SEP15_HUMAN	Homo sapiens 15 kDa selenoprotein (SEP15), transcript variant 1, mRNA.	109					'de novo' posttranslational protein folding	endoplasmic reticulum lumen	selenium binding						Lung NSC(277;0.153)		all cancers(265;0.00744)|Epithelial(280;0.0333)		ACAGTTTGGGTTTATCACTCC	0.289													C	87333766	T	C	87333766	2	2	4	1	0	0	0	0	0	0	0	1	14053	1722	60	3		3	SEP15	1	87333766	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	433567	87333766	161916855	148	2213											
HS2ST1	9653	broad.mit.edu	37	chr1	87538675	87538675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgacatacaatggatggCcctcggcaagatgccacttt	10	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:87538675C>T	uc010osk.2	+	1	568	c.183C>T	c.(181-183)ggC>ggT	p.G61G	HS2ST1_uc001dmc.4_Silent_p.G61G|HS2ST1_uc001dme.2_Silent_p.G22G	NM_012262	NP_036394	Q7LGA3	HS2ST_HUMAN	Homo sapiens heparan sulfate 2-O-sulfotransferase 1 (HS2ST1), transcript variant 1, mRNA.	61						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		CAATGGATGGCCCTCGGCAAG	0.428													T	87538675	C	T	87538675	2	4	4	1	0	0	0	0	0	0	0	1	7362	726	26	2		2	HS2ST1	1	87538675	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	204909	87538675	161711946	149	2214											
RBMXL1	494115	broad.mit.edu	37	chr1	89448926	89448926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagaggggagcggttcccttCgaggtggacctccataacta	14	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:89448926C>T	uc021opo.1	-	0	584	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.R195Q|RBMXL1_uc001dms.3_Missense_Mutation_p.R195Q	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	195							RNA binding|nucleotide binding										CGGTTCCCTTCGAGGTGGACC	0.483													T	89448926	C	T	89448926	3	4	4	1	0	0	0	0	1	0	0	0	13153	884	31	1	592	1	RBMXL1	1	89448926	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1910251	89448926	159801695	150	2215											
GBP7	388646	broad.mit.edu	37	chr1	89630432	89630432	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttttccatatcacccagGccctccgtgtccagaaggat	7	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:89630432G>A	uc001dna.2	-	2	439	c.300C>T	c.(298-300)ggC>ggT	p.G100G		NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	100						integral to membrane	GTP binding|GTPase activity	p.E99D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TATCACCCAGGCCCTCCGTGT	0.453													A	89630432	G	A	89630432	2	1	4	1	0	0	0	0	0	0	0	1	6279	1190	42	2		2	GBP7	1	89630432	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	181506	89630432	159620189	151	2216											
GBP6	163351	broad.mit.edu	37	chr1	89847396	89847396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actactacagccagcagatgGcccagcgagtgaagctcccc	10	15	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:89847396G>A	uc001dnf.2	+	6	1289	c.1015G>A	c.(1015-1017)Gcc>Acc	p.A339T	GBP6_uc010ost.1_Missense_Mutation_p.A209T	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	339							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CCAGCAGATGGCCCAGCGAGT	0.587													A	89847396	G	A	89847396	3	1	4	1	0	0	0	0	1	0	0	0	6278	1203	42	2	1037	2	GBP6	1	89847396	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	216964	89847396	159403225	152	2217											
LRRC8D	55144	broad.mit.edu	37	chr1	90398905	90398905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccaagaccaagatgggcGgacaacaaacgacatttcct	8	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:90398905G>A	uc021opq.1	+	0	278	c.278G>A	c.(277-279)cGg>cAg	p.R93Q	LRRC8D_uc001dnm.3_Missense_Mutation_p.R93Q|LRRC8D_uc001dnn.3_Missense_Mutation_p.R93Q	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	93						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CAAGATGGGCGGACAACAAAC	0.498													A	90398905	G	A	90398905	3	1	4	1	0	0	0	0	1	0	0	0	9024	1116	39	1	280	1	LRRC8D	1	90398905	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	551509	90398905	158851716	153	2218											
LRRC8D	55144	broad.mit.edu	37	chr1	90400837	90400837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcagatgcttagatgtgaGctacaacaacatttcaatga	7	8	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:90400837G>A	uc021opq.1	+	0	2210	c.2210G>A	c.(2209-2211)aGc>aAc	p.S737N	LRRC8D_uc001dnm.3_Missense_Mutation_p.S737N|LRRC8D_uc001dnn.3_Missense_Mutation_p.S737N	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	737						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TTAGATGTGAGCTACAACAAC	0.378													A	90400837	G	A	90400837	3	1	4	1	0	0	0	0	1	0	0	0	9024	971	34	2	2212	2	LRRC8D	1	90400837	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1932	90400837	158849784	154	2219											
HFM1	164045	broad.mit.edu	37	chr1	91818691	91818691	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccagcatgatgataagcaGcaccatcttttaagatatct	6	9	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:91818691G>T	uc001doa.4	-	14	1847	c.1748C>A	c.(1747-1749)gCt>gAt	p.A583D	HFM1_uc009wdb.3_5'Flank|HFM1_uc010osu.2_Missense_Mutation_p.A262D|HFM1_uc010osv.1_Missense_Mutation_p.A267D	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	583	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATGATAAGCAGCACCATCTTT	0.318													T	91818691	G	T	91818691	3	4	4	1	0	0	0	0	1	0	0	0	7083	971	34	5	2659	5	HFM1	1	91818691	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1417854	91818691	157431930	155	2220											
HFM1	164045	broad.mit.edu	37	chr1	91844024	91844024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctccatttcctagtcatgCtatcccatttttcctagaga	4	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:91844024C>T	uc001doa.4	-	9	1271	c.1172G>A	c.(1171-1173)aGc>aAc	p.S391N	HFM1_uc010osu.2_Missense_Mutation_p.S70N|HFM1_uc010osv.1_Missense_Mutation_p.S75N|HFM1_uc001doc.1_Missense_Mutation_p.S391N	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	391	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CCTAGTCATGCTATCCCATTT	0.313													T	91844024	C	T	91844024	3	4	4	1	0	0	0	0	1	0	0	0	7083	797	28	2	3255	2	HFM1	1	91844024	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	25333	91844024	157406597	156	2221											
CDC7	8317	broad.mit.edu	37	chr1	91977470	91977470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaattttttatataataggCgcctgaaaaagtaagtatga	8	4	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:91977470C>T	uc001doe.3	+	5	727	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C	CDC7_uc001dof.3_Missense_Mutation_p.R188C|CDC7_uc010osw.2_Missense_Mutation_p.R160C|CDC7_uc009wdc.3_Missense_Mutation_p.R188C|CDC7_uc009wdd.3_5'Flank	NM_003503	NP_003494	O00311	CDC7_HUMAN	Homo sapiens cell division cycle 7 homolog (S. cerevisiae) (CDC7), transcript variant 1, mRNA.	188	Protein kinase.				DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint|cell division|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		ATATAATAGGCGCCTGAAAAA	0.294													T	91977470	C	T	91977470	3	4	4	1	0	0	0	0	1	0	0	0	3084	768	27	1	580	1	CDC7	1	91977470	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	133446	91977470	157273151	157	2222											
GLMN	11146	broad.mit.edu	37	chr1	92737086	92737086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactagatatgccagagaagCcattgagtctgctaactgtt	9	8	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:92737086C>T	uc001dor.3	-	7	974	c.859G>A	c.(859-861)Gct>Act	p.A287T	GLMN_uc009wdg.3_Non-coding_Transcript|GLMN_uc001dos.3_Missense_Mutation_p.A287T	NM_053274	NP_444504	Q92990	GLMN_HUMAN	Homo sapiens glomulin, FKBP associated protein (GLMN), mRNA.	287					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	p.M286V(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		GCCAGAGAAGCCATTGAGTCT	0.348									Multiple Glomus Tumors (of the Skin), Familial				T	92737086	C	T	92737086	3	4	4	1	0	0	0	0	1	0	0	0	6448	739	26	2	973	2	GLMN	1	92737086	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	759616	92737086	156513535	158	2223											
MTF2	22823	broad.mit.edu	37	chr1	93584943	93584943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaccagaatacctcaaacGtctaccattacagtggtaag	8	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:93584943G>A	uc009wdj.3	+	7	1074	c.782G>A	c.(781-783)cGt>cAt	p.R261H	MTF2_uc010oth.2_Missense_Mutation_p.R159H|MTF2_uc009wdk.3_Missense_Mutation_p.R261H|MTF2_uc010oti.2_Missense_Mutation_p.R159H|MTF2_uc001dpi.4_Silent_p.T29T|MTF2_uc001dpl.4_Missense_Mutation_p.R159H	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	Homo sapiens metal response element binding transcription factor 2 (MTF2), transcript variant 1, mRNA.	261						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TACCTCAAACGTCTACCATTA	0.323													A	93584943	G	A	93584943	3	1	4	1	0	0	0	0	1	0	0	0	9923	1145	40	1	812	1	MTF2	1	93584943	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	847857	93584943	155665678	159	2224											
FNBP1L	54874	broad.mit.edu	37	chr1	94001888	94001888	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctttatttccatattaGccacagtccccacccttaac	2	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:94001888G>A	uc010otk.2	+	10	1142	c.991_splice	c.e10-1	p.P331_splice	FNBP1L_uc001dpv.3_Intron|FNBP1L_uc001dpw.3_Intron	NM_001164473	NP_001157945	Q5T0N5	FBP1L_HUMAN	Homo sapiens formin binding protein 1-like (FNBP1L), transcript variant 3, mRNA.	331	Induction of membrane tubulation (By similarity).|Interaction with CDC42.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TTCCATATTAGCCACAGTCCC	0.368													A	94001888	G	A	94001888	5	1	4	1	0	0	0	0	0	0	1	0	5966	985	34	2	1028	2	FNBP1L	1	94001888	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	416945	94001888	155248733	160	2225											
BCAR3	8412	broad.mit.edu	37	chr1	94140374	94140374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcttgataggcatctgggCgatgctcagcgagaggggac	15	9	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:94140374C>T	uc001dpz.3	-	1	388	c.113G>A	c.(112-114)cGc>cAc	p.R38H	BCAR3_uc001dqa.3_Missense_Mutation_p.R38H|BCAR3_uc001dqb.3_Missense_Mutation_p.R38H	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	38					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GGCATCTGGGCGATGCTCAGC	0.532													T	94140374	C	T	94140374	3	4	4	1	0	0	0	0	1	0	0	0	1349	768	27	1	2408	1	BCAR3	1	94140374	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	138486	94140374	155110247	161	2226											
GCLM	2730	broad.mit.edu	37	chr1	94360188	94360188	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accttttggatcattgtgagTcaacagctgtatgtcaaatt	8	7	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:94360188T>C	uc001dqg.1	-	5	930	c.637A>G	c.(637-639)Act>Gct	p.T213A		NM_002061	NP_002052	P48507	GSH0_HUMAN	Homo sapiens glutamate-cysteine ligase, modifier subunit (GCLM), mRNA.	213					glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	TCATTGTGAGTCAACAGCTGT	0.323													C	94360188	T	C	94360188	3	2	4	1	0	0	0	0	1	0	0	0	6296	1667	58	3	195	3	GCLM	1	94360188	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	219814	94360188	154890433	162	2227											
ALG14	199857	broad.mit.edu	37	chr1	95448750	95448750	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggacatggataacgtttctAcacggcagatgctttcaacg	10	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:95448750A>G	uc001dra.2	-	3	586	c.533T>C	c.(532-534)gTa>gCa	p.V178A		NM_144988	NP_659425	Q96F25	ALG14_HUMAN	Homo sapiens asparagine-linked glycosylation 14 homolog (S. cerevisiae) (ALG14), mRNA.	178					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		TAACGTTTCTACACGGCAGAT	0.433													G	95448750	A	G	95448750	3	3	4	1	0	0	0	0	1	0	0	0	516	391	14	3	121	3	ALG14	1	95448750	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1088562	95448750	153801871	163	2228											
LPPR5	163404	broad.mit.edu	37	chr1	99380468	99380468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgaaattattcaccacGcacacaacctaaaatttcag	3	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:99380468G>A	uc001dsb.3	-	4	1029	c.807C>T	c.(805-807)tgC>tgT	p.C269C	LPPR5_uc001dsc.3_Silent_p.C269C	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 5 (LPPR5), transcript variant 1, mRNA.	269						integral to membrane	hydrolase activity										TATTCACCACGCACACAACCT	0.393													A	99380468	G	A	99380468	2	1	4	1	0	0	0	0	0	0	0	1	8928	1079	38	1		1	LPPR5	1	99380468	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3931718	99380468	149870153	164	2229											
AGL	178	broad.mit.edu	37	chr1	100340251	100340251	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttcttttagaaaataggCgagtaaccaagtctgatcca	7	8	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:100340251C>T	uc001dsi.1	+	7	1367	c.967C>T	c.(967-969)Cga>Tga	p.R323*	AGL_uc001dsj.1_Nonsense_Mutation_p.R323*|AGL_uc001dsk.1_Nonsense_Mutation_p.R323*|AGL_uc001dsl.1_Nonsense_Mutation_p.R323*|AGL_uc001dsm.1_Nonsense_Mutation_p.R307*|AGL_uc001dsn.1_Nonsense_Mutation_p.R306*	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	323					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	p.R323L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AGAAAATAGGCGAGTAACCAA	0.333													T	100340251	C	T	100340251	4	4	4	1	0	0	0	0	0	1	0	0	384	760	27	1	1062	1	AGL	1	100340251	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	959783	100340251	148910370	165	2230											
HIAT1	64645	broad.mit.edu	37	chr1	100534034	100534034	+	Frame_Shift_Del	DEL	A	A	-													tttttcttgttctagtccttAaaaaaagtcggccaagattc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:100534033_100534033TA>T	uc001dst.3	+	6	710	c.710_710TA>T	c.(709-711)ttafs	p.L237fs		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	Homo sapiens hippocampus abundant transcript 1 (HIAT1), mRNA.	237					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTCTAGTCCTTAAAAAAAGTC	0.388													-	100534034	A	-	100534034	7	5	4	1	0	1	0	1	0	0	0	0	7097	359	13	0	737	0	HIAT1	1	100534034	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	193783	100534034	148716587	166	2231											
CCDC76	54482	broad.mit.edu	37	chr1	100606013	100606013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcccatccagcattacaCgatgcacttaatgaccctaa	5	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:100606013C>T	uc001dsv.3	+	5	463	c.444C>T	c.(442-444)caC>caT	p.H148H	CCDC76_uc010ouf.2_Non-coding_Transcript|CCDC76_uc009wea.3_Silent_p.H148H	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	Homo sapiens coiled-coil domain containing 76 (CCDC76), mRNA.	148					tRNA processing		metal ion binding|methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)	21		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		CAGCATTACACGATGCACTTA	0.393													T	100606013	C	T	100606013	2	4	4	1	0	0	0	0	0	0	0	1	2850	535	19	1		1	CCDC76	1	100606013	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	71979	100606013	148644608	167	2232											
VCAM1	7412	broad.mit.edu	37	chr1	101194751	101194751	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgacatgtagtgtcatgggCtgtgaatccccatctttctc	9	10	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:101194751C>A	uc001dti.3	+	4	1238	c.1017C>A	c.(1015-1017)ggC>ggA	p.G339G	VCAM1_uc010ouj.2_Silent_p.G277G|VCAM1_uc001dtj.3_Intron	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	339	Ig-like C2-type 4.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GTGTCATGGGCTGTGAATCCC	0.547													A	101194751	C	A	101194751	2	1	4	1	0	0	0	0	0	0	0	1	17134	784	28	5		5	VCAM1	1	101194751	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	588738	101194751	148055870	168	2233											
VCAM1	7412	broad.mit.edu	37	chr1	101197021	101197021	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctaagttacatattgatgAcatggaattcgaacccaaac	8	8	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:101197021A>G	uc001dti.3	+	5	1693	c.1472A>G	c.(1471-1473)gAc>gGc	p.D491G	VCAM1_uc010ouj.2_Missense_Mutation_p.D429G|VCAM1_uc001dtj.3_Missense_Mutation_p.D399G	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	491	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CATATTGATGACATGGAATTC	0.363													G	101197021	A	G	101197021	3	3	4	1	0	0	0	0	1	0	0	0	17134	275	10	3	1494	3	VCAM1	1	101197021	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	2270	101197021	148053600	169	2234											
NTNG1	22854	broad.mit.edu	37	chr1	107867347	107867347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatcaaagacaggttcgcGttttttgctggacctcgcct	10	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:107867347G>A	uc001dvh.4	+	2	1408	c.690G>A	c.(688-690)gcG>gcA	p.A230A	NTNG1_uc001dvc.4_Silent_p.A230A|NTNG1_uc010out.2_Silent_p.A230A|NTNG1_uc001dvf.4_Silent_p.A230A|NTNG1_uc001dvd.1_Silent_p.A230A	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	230	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding	p.A230V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ACAGGTTCGCGTTTTTTGCTG	0.428													A	107867347	G	A	107867347	2	1	4	1	0	0	0	0	0	0	0	1	10704	1132	40	1		1	NTNG1	1	107867347	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	6670326	107867347	141383274	170	2235											
FAM102B	284611	broad.mit.edu	37	chr1	109154858	109154858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaggaaataccactcgccGctgtttactggaaggctatg	10	10	1	0	rs141529277	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:109154858G>A	uc010ouy.2	+	3	427	c.347G>A	c.(346-348)cGc>cAc	p.R116H		NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN	Homo sapiens family with sequence similarity 102, member B (FAM102B), mRNA.	116										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		ACCACTCGCCGCTGTTTACTG	0.363													A	109154858	G	A	109154858	3	1	4	1	0	0	0	0	1	0	0	0	5383	1087	38	1	361	1	FAM102B	1	109154858	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1287511	109154858	140095763	171	2236											
AKNAD1	254268	broad.mit.edu	37	chr1	109369927	109369927	+	Splice_Site	DEL	A	A	-													ttctccacgttttgcttcctAaaaaaaggtgcataagatcc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:109369926_109369926TA>T	uc001dwa.3	-	11	2108	c.1839_splice	c.e11-1	p.W613_splice	AKNAD1_uc010ovb.2_Splice_Site_p.W320_splice|AKNAD1_uc001dwb.3_Splice_Site	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	613										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTTGCTTCCTAAAAAAAGGT	0.378													-	109369927	A	-	109369927	8	5	4	1	0	1	0	1	0	0	1	0	464	377	13	0		0	AKNAD1	1	109369927	Splice_Site	DEL	A	TCGA-BR-4184-01A-01D-1126-08	215069	109369927	139880694	172	2237											
GPSM2	29899	broad.mit.edu	37	chr1	109461284	109461284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagcaaaaacctcttattgCcaaaccttctgcaaagctac	4	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:109461284C>T	uc010ovc.2	+	11	1809	c.1313C>T	c.(1312-1314)gCc>gTc	p.A438V	AKNAD1_uc010ovb.2_Intron|GPSM2_uc010ovd.2_Missense_Mutation_p.A438V|GPSM2_uc010ove.1_Missense_Mutation_p.A438V	NM_013296	NP_037428	P81274	GPSM2_HUMAN	Homo sapiens G-protein signaling modulator 2 (GPSM2), mRNA.	438					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CCTCTTATTGCCAAACCTTCT	0.388													T	109461284	C	T	109461284	3	4	4	1	0	0	0	0	1	0	0	0	6735	739	26	2	1355	2	GPSM2	1	109461284	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	91357	109461284	139789337	173	2238											
CELSR2	1952	broad.mit.edu	37	chr1	109811556	109811556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggggccaagctgccccGctacgaggccctgcgtgggg	17	14	0	0	rs141644848		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:109811556G>A	uc001dxa.4	+	18	6618	c.6557G>A	c.(6556-6558)cGc>cAc	p.R2186H		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	2186					Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AAGCTGCCCCGCTACGAGGCC	0.592													A	109811556	G	A	109811556	3	1	4	1	0	0	0	0	1	0	0	0	3222	1087	38	1	6631	1	CELSR2	1	109811556	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	350272	109811556	139439065	174	2239											
MYBPHL	343263	broad.mit.edu	37	chr1	109840068	109840068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaggatgtcaatggtggCggtggcctccagcccaccca	12	15	1	0	rs34962971		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:109840068C>T	uc001dxk.1	-	2	456	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	MYBPHL_uc010ovh.1_Intron|MYBPHL_uc001dxl.3_Intron	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	Homo sapiens myosin binding protein H-like (MYBPHL), mRNA.	136	Ig-like C2-type 1.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		TCAATGGTGGCGGTGGCCTCC	0.612													T	109840068	C	T	109840068	3	4	4	1	0	0	0	0	1	0	0	0	10015	768	27	1	682	1	MYBPHL	1	109840068	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	28512	109840068	139410553	175	2240											
AMPD2	271	broad.mit.edu	37	chr1	110172028	110172028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagccccctgcctgaggCgtgggtggaggaggacaacc	18	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:110172028C>T	uc009wfh.1	+	14	2482	c.1940C>T	c.(1939-1941)gCg>gTg	p.A647V	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Missense_Mutation_p.A566V|AMPD2_uc001dyc.1_Missense_Mutation_p.A647V|AMPD2_uc010ovr.1_Missense_Mutation_p.A572V|AMPD2_uc001dyd.1_Missense_Mutation_p.A528V|AMPD2_uc001dye.1_5'UTR	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	647					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGCCTGAGGCGTGGGTGGAG	0.562													T	110172028	C	T	110172028	3	4	4	1	0	0	0	0	1	0	0	0	586	768	27	1	2035	1	AMPD2	1	110172028	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	331960	110172028	139078593	176	2241											
ALX3	257	broad.mit.edu	37	chr1	110603359	110603359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtccatgcaaccgatcacGtggtccagttcagaaggccg	12	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:110603359G>A	uc001dzb.3	-	3	1116	c.1028C>T	c.(1027-1029)aCg>aTg	p.T343M	DQ574855_uc021orl.1_Non-coding_Transcript	NM_006492	NP_006483	O95076	ALX3_HUMAN	Homo sapiens ALX homeobox 3 (ALX3), mRNA.	343						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T343T(1)		large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		AACCGATCACGTGGTCCAGTT	0.577													A	110603359	G	A	110603359	3	1	4	1	0	0	0	0	1	0	0	0	557	1145	40	1	7	1	ALX3	1	110603359	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	431331	110603359	138647262	177	2242											
SLC6A17	388662	broad.mit.edu	37	chr1	110737374	110737374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatcgacaccttcaaggtGcccaaggagatgttcacagg	10	11	3	1	rs143840691		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:110737374G>A	uc009wfq.3	+	8	1934	c.1473G>A	c.(1471-1473)gtG>gtA	p.V491V	SLC6A17_uc001dze.1_Silent_p.V89V	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	491					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CCTTCAAGGTGCCCAAGGAGA	0.577													A	110737374	G	A	110737374	2	1	4	1	0	0	0	0	0	0	0	1	14680	1306	46	2		2	SLC6A17	1	110737374	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	134015	110737374	138513247	178	2243											
RBM15	64783	broad.mit.edu	37	chr1	110884009	110884009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtctcctgagagtgaccGcccacgaaaacgtcactgcg	11	13	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:110884009G>A	uc001dzl.1	+	0	2065	c.1982G>A	c.(1981-1983)cGc>cAc	p.R661H	RBM15_uc001dzm.1_Missense_Mutation_p.R661H|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Missense_Mutation_p.R661H	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.	661	Arg-rich.				interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGAGTGACCGCCCACGAAAA	0.567			T	MKL1	acute megakaryocytic leukemia								A	110884009	G	A	110884009	3	1	4	1	0	0	0	0	1	0	0	0	13116	1087	38	1	1984	1	RBM15	1	110884009	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	146635	110884009	138366612	179	2244											
KCNA3	3738	broad.mit.edu	37	chr1	111216253	111216253	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcccagctcccgcatggaCgccttcagcgtttgcccgag	10	16	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:111216253C>T	uc001dzv.1	-	0	1403	c.1179G>A	c.(1177-1179)gcG>gcA	p.A393A		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	393						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCGCATGGACGCCTTCAGCG	0.587													T	111216253	C	T	111216253	2	4	4	1	0	0	0	0	0	0	0	1	8004	523	19	1		1	KCNA3	1	111216253	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	332244	111216253	138034368	180	2245											
OVGP1	5016	broad.mit.edu	37	chr1	111969183	111969183	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcagagaaaggggtccaGgtcatggggcaagatcgagg	19	6	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:111969183G>A	uc001eba.3	-	2	192	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L	OVGP1_uc001eaz.3_5'UTR|OVGP1_uc010owb.2_5'UTR|OVGP1_uc010owc.1_Silent_p.L36L	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	46					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AAGGGGTCCAGGTCATGGGGC	0.512													A	111969183	G	A	111969183	2	1	4	1	0	0	0	0	0	0	0	1	11325	991	35	4		4	OVGP1	1	111969183	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	752930	111969183	137281438	181	2246											
KCND3	3752	broad.mit.edu	37	chr1	112524688	112524688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaaggccaccgagtagcGctccccgcacggcagctcct	12	16	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:112524688G>A	uc001ebu.1	-	1	1141	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	KCND3_uc001ebv.1_Missense_Mutation_p.R221C	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	221						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	p.R221C(2)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		ACCGAGTAGCGCTCCCCGCAC	0.657													A	112524688	G	A	112524688	3	1	4	1	0	0	0	0	1	0	0	0	8020	1087	38	1	1334	1	KCND3	1	112524688	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	555505	112524688	136725933	182	2247											
CAPZA1	829	broad.mit.edu	37	chr1	113189836	113189836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtttctctttaggtacGcatagctgctaaattcatca	6	8	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:113189836G>A	uc001ecj.1	+	1	436	c.44G>A	c.(43-45)cGc>cAc	p.R15H		NM_006135	NP_006126	P52907	CAZA1_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 1 (CAPZA1), mRNA.	15					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	F-actin capping protein complex|WASH complex|cytosol|extracellular region	actin binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTAGGTACGCATAGCTGCT	0.303													A	113189836	G	A	113189836	3	1	4	1	0	0	0	0	1	0	0	0	2640	1087	38	1	50	1	CAPZA1	1	113189836	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	665148	113189836	136060785	183	2248											
HIPK1	204851	broad.mit.edu	37	chr1	114499899	114499899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaatcagctcaatacagtGcacaatcaggtattcaataa	6	9	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:114499899G>A	uc001eem.3	+	6	1907	c.1746G>A	c.(1744-1746)gtG>gtA	p.V582V	HIPK1_uc001eel.3_Silent_p.V582V|HIPK1_uc001een.3_Silent_p.V582V|HIPK1_uc001eeo.3_Silent_p.V208V|HIPK1_uc001eep.3_Silent_p.V188V	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAATACAGTGCACAATCAGG	0.373													A	114499899	G	A	114499899	2	1	4	1	0	0	0	0	0	0	0	1	7116	1306	46	2		2	HIPK1	1	114499899	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1310063	114499899	134750722	184	2249											
OLFML3	56944	broad.mit.edu	37	chr1	114523959	114523959	+	Frame_Shift_Del	DEL	C	C	-													ttcccagcagaggggctgatCcccccctacggcttgacagc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:114523958_114523958TC>T	uc001eer.1	+	2	897	c.788_788TC>T	c.(787-789)atcfs	p.I263fs	OLFML3_uc001ees.1_Frame_Shift_Del_p.I243fs|OLFML3_uc001eet.1_Frame_Shift_Del_p.I119fs	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN	Homo sapiens olfactomedin-like 3 (OLFML3), mRNA.	263	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTAC	0.562													-	114523959	C	-	114523959	7	5	4	1	0	1	0	1	0	0	0	0	10859	845	30	0	799	0	OLFML3	1	114523959	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	24060	114523959	134726662	185	2250											
TRIM33	51592	broad.mit.edu	37	chr1	114967378	114967378	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactgatcaatcgaggaggCtacaaaaagtagaaattgca	9	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:114967378C>T	uc001eew.3	-	10	1780	c.1696_splice	c.e10-1	p.P566_splice	TRIM33_uc010owr.2_Splice_Site_p.P156_splice|TRIM33_uc010ows.2_Splice_Site_p.P174_splice|TRIM33_uc001eex.3_Splice_Site_p.P566_splice	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.	566					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|R-SMAD binding|co-SMAD binding|ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCGAGGAGGCTACAAAAAGT	0.328			T	RET	papillary thyroid								T	114967378	C	T	114967378	5	4	4	1	0	0	0	0	0	0	1	0	16504	811	28	2	1732	2	TRIM33	1	114967378	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	443419	114967378	134283243	186	2251											
NGF	4803	broad.mit.edu	37	chr1	115828756	115828756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtatctatccggataaaccGccaggcagcctgcttgccat	9	14	1	0	rs11466112		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:115828756G>A	uc021osd.1	-	0	661	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	NGF_uc001efu.1_Missense_Mutation_p.R221W	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	221			R -> W (in HSAN5; dbSNP:rs11466112).		Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	Golgi lumen|endosome	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CGGATAAACCGCCAGGCAGCC	0.587													A	115828756	G	A	115828756	3	1	4	1	0	0	0	0	1	0	0	0	10395	1086	38	1	68	1	NGF	1	115828756	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	861378	115828756	133421865	187	2252											
IGSF3	3321	broad.mit.edu	37	chr1	117150721	117150721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcacaaagacactgtcGctctctttggccaccttaag	7	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:117150721G>A	uc001egq.1	-	4	1770	c.1065C>T	c.(1063-1065)agC>agT	p.S355S	IGSF3_uc001egr.1_Silent_p.S355S|IGSF3_uc001egs.1_Silent_p.S28S	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	355	Ig-like C2-type 3.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGACACTGTCGCTCTCTTTGG	0.567													A	117150721	G	A	117150721	2	1	4	1	0	0	0	0	0	0	0	1	7601	1078	38	1		1	IGSF3	1	117150721	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1321965	117150721	132099900	188	2253											
IGSF3	3321	broad.mit.edu	37	chr1	117156493	117156493	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcctcgcagtagaattcGccctggtcagaaggctgcag	14	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:117156493G>A	uc001egq.1	-	3	1431	c.726C>T	c.(724-726)ggC>ggT	p.G242G	IGSF3_uc001egr.1_Silent_p.G242G	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	242	Ig-like C2-type 2.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGTAGAATTCGCCCTGGTCAG	0.627													A	117156493	G	A	117156493	2	1	4	1	0	0	0	0	0	0	0	1	7601	1074	38	1		1	IGSF3	1	117156493	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5772	117156493	132094128	189	2254											
IGSF3	3321	broad.mit.edu	37	chr1	117156666	117156666	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttctcgccaactttctgccGgagccaggccacagacaggt	10	15	2	1	rs144111921		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:117156666G>T	uc001egq.1	-	3	1258	c.553C>A	c.(553-555)Cgg>Agg	p.R185R	IGSF3_uc001egr.1_Silent_p.R185R	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	185	Ig-like C2-type 2.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ACTTTCTGCCGGAGCCAGGCC	0.612													T	117156666	G	T	117156666	2	4	4	1	0	0	0	0	0	0	0	1	7601	1115	39	5		5	IGSF3	1	117156666	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	173	117156666	132093955	190	2255											
SPAG17	200162	broad.mit.edu	37	chr1	118634571	118634571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggtggtggagcttgcgGttcttcatactgtgctttct	13	9	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:118634571G>A	uc001ehk.2	-	8	1296	c.1228C>T	c.(1228-1230)Ccg>Tcg	p.P410S		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	410						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GGAGCTTGCGGTTCTTCATAC	0.448													A	118634571	G	A	118634571	3	1	4	1	0	0	0	0	1	0	0	0	14979	1261	44	4	5603	4	SPAG17	1	118634571	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1477905	118634571	130616050	191	2256											
HSD3B2	3284	broad.mit.edu	37	chr1	119965056	119965056	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcccaatttactcctatcAaccccccttcaaccgccaca	2	20	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:119965056A>G	uc001ehs.3	+	2	1705	c.932A>G	c.(931-933)cAa>cGa	p.Q311R	HSD3B2_uc021ost.1_Missense_Mutation_p.Q311R|HSD3B2_uc001eht.3_Missense_Mutation_p.Q311R|HSD3B2_uc001ehu.3_Intron	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	311					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	TACTCCTATCAACCCCCCTTC	0.488													G	119965056	A	G	119965056	3	3	4	1	0	0	0	0	1	0	0	0	7391	130	5	3	942	3	HSD3B2	1	119965056	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1330485	119965056	129285565	192	2257											
HSD3B2	3284	broad.mit.edu	37	chr1	119985638	119985638	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcttcggagtcactcacagaCagtctatcatgaatgtcaat	7	10	6	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:119985638C>G	uc001ehu.3	+	3	617	c.445C>G	c.(445-447)Cag>Gag	p.Q149E				P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 1, mRNA.	0					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CACTCACAGACAGTCTATCAT	0.498													G	119985638	C	G	119985638	3	3	4	1	0	0	0	0	1	0	0	0	7391	493	17	5		5	HSD3B2	1	119985638	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	20582	119985638	129264983	193	2258											
ADAM30	11085	broad.mit.edu	37	chr1	120436591	120436591	+	Frame_Shift_Del	DEL	T	T	-													agtatggattgcccggttacTttttttgtttcttgacactc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:120436590_120436590CT>C	uc001eij.3	-	0	2558	c.2370_2370AG>G	c.(2368-2370)aagfs	p.K790fs		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	790					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TGCCCGGTTACTTTTTTTGTT	0.358													-	120436591	T	-	120436591	7	5	4	1	0	1	0	1	0	0	0	0	248	1609	56	0	7	0	ADAM30	1	120436591	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	450953	120436591	128814030	194	2259											
NOTCH2	4853	broad.mit.edu	37	chr1	120462077	120462077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgggctgcaaggtgcaggGccatctcaccagtccggtct	14	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:120462077G>A	uc001eik.3	-	30	5936	c.5639C>T	c.(5638-5640)gCc>gTc	p.A1880V		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1880					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.M1879I(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGGTGCAGGGCCATCTCACC	0.592			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				A	120462077	G	A	120462077	3	1	4	1	0	0	0	0	1	0	0	0	10548	1203	42	2	1792	2	NOTCH2	1	120462077	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	25486	120462077	128788544	195	2260											
NOTCH2	4853	broad.mit.edu	37	chr1	120483245	120483245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccaggccatcaacacacGttccctcattcaggcatgga	7	15	3	0	rs61755044	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:120483245G>A	uc001eik.3	-	18	3413	c.3116C>T	c.(3115-3117)aCg>aTg	p.T1039M	NOTCH2_uc001eil.3_Missense_Mutation_p.T1039M	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1039	EGF-like 27; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.T1039M(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCAACACACGTTCCCTCATT	0.522			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				A	120483245	G	A	120483245	3	1	4	1	0	0	0	0	1	0	0	0	10548	1145	40	1	4363	1	NOTCH2	1	120483245	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	21168	120483245	128767376	196	2261											
PDE4DIP	9659	broad.mit.edu	37	chr1	144916600	144916600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttcctatcatgaagagaCgtctgtaactgctgaatgat	9	7	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:144916600C>T	uc021ouh.1	-	12	2057	c.1755G>A	c.(1753-1755)acG>acA	p.T585T	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.T585T|PDE4DIP_uc001elx.4_Silent_p.T651T|PDE4DIP_uc001emd.2_Silent_p.T585T|PDE4DIP_uc001emc.2_Silent_p.T585T|PDE4DIP_uc001emb.1_Silent_p.T748T|PDE4DIP_uc001eme.1_Silent_p.T114T	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	585					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CATGAAGAGACGTCTGTAACT	0.418			T	PDGFRB	MPD								T	144916600	C	T	144916600	2	4	4	1	0	0	0	0	0	0	0	1	11643	523	19	1		1	PDE4DIP	1	144916600	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	24433355	144916600	104334021	197	2262											
PDE4DIP	9659	broad.mit.edu	37	chr1	144917533	144917533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattggaggagaggacatcgCgcagtctctctaagtcatga	12	9	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:144917533C>T	uc021ouh.1	-	11	1873	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.R524H|PDE4DIP_uc001elx.4_Missense_Mutation_p.R590H|PDE4DIP_uc001emd.2_Missense_Mutation_p.R524H|PDE4DIP_uc001emc.2_Missense_Mutation_p.R524H|PDE4DIP_uc001emb.1_Missense_Mutation_p.R687H|PDE4DIP_uc001eme.1_Missense_Mutation_p.R53H	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	524					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.R524H(2)|p.R687H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAGGACATCGCGCAGTCTCTC	0.458			T	PDGFRB	MPD								T	144917533	C	T	144917533	3	4	4	1	0	0	0	0	1	0	0	0	11643	768	27	1	5611	1	PDE4DIP	1	144917533	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	933	144917533	104333088	198	2263											
TXNIP	10628	broad.mit.edu	37	chr1	145440095	145440095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgttcattcctgatgggCgggtgtctgtctctgctcga	13	10	3	1	rs143973146	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:145440095C>T	uc001enn.4	+	3	870	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	TXNIP_uc010oys.2_Missense_Mutation_p.R122W	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.	177			R -> Q (in dbSNP:rs6674773).		cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.R177L(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCTGATGGGCGGGTGTCTGT	0.428													T	145440095	C	T	145440095	3	4	4	1	0	0	0	0	1	0	0	0	16800	759	27	1	543	1	TXNIP	1	145440095	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	522562	145440095	103810526	199	2264											
PDZK1	5174	broad.mit.edu	37	chr1	145748554	145748554	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctatctcgtgaaggaaggaGgcagctatggcttctctctg	13	9	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:145748554G>T	uc001eon.2	+	3	584	c.427G>T	c.(427-429)Ggc>Tgc	p.G143C	PDZK1_uc001eoo.2_Missense_Mutation_p.G143C|PDZK1_uc010oza.2_Missense_Mutation_p.G143C	NM_002614	NP_002605	Q5T2W1	NHRF3_HUMAN	Homo sapiens PDZ domain containing 1 (PDZK1), transcript variant 1, mRNA.	143	PDZ 2.				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GAAGGAAGGAGGCAGCTATGG	0.522													T	145748554	G	T	145748554	3	4	4	1	0	0	0	0	1	0	0	0	11707	1000	35	5	433	5	PDZK1	1	145748554	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	308459	145748554	103502067	200	2265											
FMO5	2330	broad.mit.edu	37	chr1	146680465	146680465	+	Frame_Shift_Del	DEL	T	T	-													ggtcaaacctttggtttatcTttttttccaaatatttgttt					rs72549315		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:146680464_146680464CT>C	uc001epi.2	-	5	1169	c.780_780AG>G	c.(778-780)aagfs	p.K260fs	FMO5_uc001eph.4_Frame_Shift_Del_p.K260fs|FMO5_uc001epj.2_Frame_Shift_Del_p.K260fs|FMO5_uc001epk.4_Frame_Shift_Del_p.K260fs	NM_001461	NP_001452	P49326	FMO5_HUMAN	Homo sapiens flavin containing monooxygenase 5 (FMO5), transcript variant 1, mRNA.	260						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					TTTGGTTTATCTTTTTTTCCA	0.403													-	146680465	T	-	146680465	7	5	4	1	0	1	0	1	0	0	0	0	5958	1609	56	0	981	0	FMO5	1	146680465	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	931911	146680465	102570156	201	2266											
CHD1L	9557	broad.mit.edu	37	chr1	146756152	146756152	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagctagtcaagagggccgaTcactccgaaataaaggcagt	11	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:146756152T>C	uc001epm.4	+	15	1897	c.1834T>C	c.(1834-1836)Tca>Cca	p.S612P	CHD1L_uc001epn.4_Missense_Mutation_p.S499P|CHD1L_uc010ozo.2_Non-coding_Transcript|CHD1L_uc009wjg.3_Non-coding_Transcript|CHD1L_uc009wjh.3_Missense_Mutation_p.S518P|CHD1L_uc010ozp.2_Missense_Mutation_p.S331P|CHD1L_uc001epo.4_Missense_Mutation_p.S408P|CHD1L_uc010ozq.1_Missense_Mutation_p.S185P|CHD1L_uc009wji.3_Missense_Mutation_p.S331P	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1-like (CHD1L), transcript variant 1, mRNA.	612					DNA repair|chromatin remodeling	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					AGAGGGCCGATCACTCCGAAA	0.353													C	146756152	T	C	146756152	3	2	4	1	0	0	0	0	1	0	0	0	3324	1435	50	3	1896	3	CHD1L	1	146756152	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	75687	146756152	102494469	202	2267											
GJA5	2702	broad.mit.edu	37	chr1	147230552	147230553	+	Frame_Shift_Ins	INS	-	-	G													ccaggcactgattaaagtcgINSgggggtggtgtgcagctctg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:147230551_147230552C>CG	uc021ovl.1	-	0	795_796	c.795_796G>CG	c.(793-798)cccgacfs	p.P265fs	GJA5_uc001eps.1_Frame_Shift_Ins_p.P265fs|GJA5_uc001ept.1_Frame_Shift_Ins_p.P265fs	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	265					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.P265P(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TGATTAAAGTCGGGGGGTGGTG	0.53													G	147230553	-	G	147230552	7	5	4	1	0	1	1	0	0	0	0	0	6404	1103	39	0	285	0	GJA5	1	147230552	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	474400	147230552	102020069	203	2268											
SV2A	9900	broad.mit.edu	37	chr1	149879659	149879659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagttaaaagttacatgCtctacgcgctccccggggaa	11	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:149879659C>T	uc001etg.3	-	8	1970	c.1479G>A	c.(1477-1479)gaG>gaA	p.E493E	SV2A_uc009wlk.3_5'Flank|SV2A_uc001eth.2_Silent_p.E493E	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	493				E -> G (in Ref. 4; CAD97824).	neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AAGTTACATGCTCTACGCGCT	0.522													T	149879659	C	T	149879659	2	4	4	1	0	0	0	0	0	0	0	1	15414	796	28	2		2	SV2A	1	149879659	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2649107	149879659	99370962	204	2269											
SF3B4	10262	broad.mit.edu	37	chr1	149898418	149898418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcggctgctgagccatggcGctcacccttggagtccttct	11	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:149898418G>A	uc001etk.2	-	2	1049	c.556C>T	c.(556-558)Cgc>Tgc	p.R186C	SF3B4_uc009wll.1_Missense_Mutation_p.R186C	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	Homo sapiens splicing factor 3b, subunit 4, 49kDa (SF3B4), mRNA.	186						U12-type spliceosomal complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GAGCCATGGCGCTCACCCTTG	0.557													A	149898418	G	A	149898418	3	1	4	1	0	0	0	0	1	0	0	0	14153	1087	38	1	734	1	SF3B4	1	149898418	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	18759	149898418	99352203	205	2270											
PRPF3	9129	broad.mit.edu	37	chr1	150305209	150305209	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgaggagaggaaaaaacagCtgagcttcattagcccccct	10	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:150305209C>A	uc001eum.4	+	4	640	c.478C>A	c.(478-480)Ctg>Atg	p.L160M	PRPF3_uc009wlp.2_Non-coding_Transcript|PRPF3_uc010pca.2_Missense_Mutation_p.L119M|PRPF3_uc010pcb.2_Missense_Mutation_p.L111M|PRPF3_uc009wlq.1_5'Flank	NM_004698	NP_004689	O43395	PRPF3_HUMAN	Homo sapiens PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3), mRNA.	160					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GAAAAAACAGCTGAGCTTCAT	0.408													A	150305209	C	A	150305209	3	1	4	1	0	0	0	0	1	0	0	0	12565	796	28	5	492	5	PRPF3	1	150305209	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	406791	150305209	98945412	206	2271											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150529443	150529443	+	Frame_Shift_Del	DEL	T	T	-													tcaggaggaaaacccaggcgTtttttatcagtatgtcatct							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:150529442_150529442GT>G	uc009wlw.3	+	10	2004	c.1846_1846GT>G	c.(1846-1848)gttfs	p.V616fs	ADAMTSL4_uc001euw.3_Frame_Shift_Del_p.V593fs|ADAMTSL4_uc001eux.3_Frame_Shift_Del_p.V593fs|ADAMTSL4_uc010pcg.2_Frame_Shift_Del_p.V616fs|ADAMTSL4_uc009wlx.3_5'Flank	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	593	Pro-rich.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AAACCCAGGCGTTTTTTATCA	0.532													-	150529443	T	-	150529443	7	5	4	1	0	1	0	1	0	0	0	0	277	1725	60	0	1812	0	ADAMTSL4	1	150529443	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	224234	150529443	98721178	207	2272											
HORMAD1	84072	broad.mit.edu	37	chr1	150680815	150680815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattaggatataaatcttgCgaatgaggagaatgcttgct	11	5	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:150680815C>T	uc001evk.2	-	8	582	c.464G>A	c.(463-465)cGc>cAc	p.R155H	HORMAD1_uc001evl.2_Missense_Mutation_p.R148H|HORMAD1_uc001evm.2_Missense_Mutation_p.R75H	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	Homo sapiens HORMA domain containing 1 (HORMAD1), transcript variant 1, mRNA.	155	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ATAAATCTTGCGAATGAGGAG	0.328													T	150680815	C	T	150680815	3	4	4	1	0	0	0	0	1	0	0	0	7286	768	27	1	748	1	HORMAD1	1	150680815	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	151372	150680815	98569806	208	2273											
HORMAD1	84072	broad.mit.edu	37	chr1	150680846	150680846	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgcttgctttcttggtgtCagtagacaacatgctagatt	9	7	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:150680846C>T	uc001evk.2	-	8	551	c.433G>A	c.(433-435)Gac>Aac	p.D145N	HORMAD1_uc001evl.2_Missense_Mutation_p.D138N|HORMAD1_uc001evm.2_Missense_Mutation_p.D65N	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	Homo sapiens HORMA domain containing 1 (HORMAD1), transcript variant 1, mRNA.	145	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTCTTGGTGTCAGTAGACAAC	0.328													T	150680846	C	T	150680846	3	4	4	1	0	0	0	0	1	0	0	0	7286	826	29	4	779	4	HORMAD1	1	150680846	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	31	150680846	98569775	209	2274											
GABPB2	126626	broad.mit.edu	37	chr1	151076045	151076045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttactgaaataggtgacccCcatgcctcaacagtacagtt	7	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:151076045C>T	uc001ewr.2	+	5	961	c.630C>T	c.(628-630)ccC>ccT	p.P210P	GABPB2_uc010pcp.1_Silent_p.P226P|GABPB2_uc001ewt.2_Intron	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA.	210					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		TAGGTGACCCCCATGCCTCAA	0.433													T	151076045	C	T	151076045	2	4	4	1	0	0	0	0	0	0	0	1	6159	610	22	4		4	GABPB2	1	151076045	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	395199	151076045	98174576	210	2275											
PI4KB	5298	broad.mit.edu	37	chr1	151276023	151276023	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatctggccataccggatgTcccctgctgcaatgaacaca	9	13	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:151276023T>C	uc001exr.3	-	6	2189	c.1550A>G	c.(1549-1551)gAc>gGc	p.D517G	PI4KB_uc001exs.3_Missense_Mutation_p.D490G|PI4KB_uc001exu.3_Missense_Mutation_p.D490G|PI4KB_uc010pcw.2_Missense_Mutation_p.D173G|PI4KB_uc001ext.3_Missense_Mutation_p.D505G|Metazoa_SRP_uc021oyp.1_5'Flank	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	505					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATACCGGATGTCCCCTGCTGC	0.507													C	151276023	T	C	151276023	3	2	4	1	0	0	0	0	1	0	0	0	11874	1667	58	3	964	3	PI4KB	1	151276023	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	199978	151276023	97974598	211	2276											
POGZ	23126	broad.mit.edu	37	chr1	151378465	151378465	+	Frame_Shift_Del	DEL	C	C	-													atatttgccctctagattctCcccctgggaggcctggaaac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:151378464_151378464TC>T	uc001eyd.2	-	18	3362	c.3047_3047GA>A	c.(3046-3048)gagfs	p.E1016fs	POGZ_uc021oyq.1_Frame_Shift_Del_p.E963fs|POGZ_uc010pdb.2_Frame_Shift_Del_p.E1007fs|POGZ_uc010pdc.2_Frame_Shift_Del_p.E954fs|POGZ_uc009wmv.2_Frame_Shift_Del_p.E921fs|POGZ_uc001eyf.2_Frame_Shift_Del_p.E972fs|POGZ_uc010pdd.2_Frame_Shift_Del_p.E507fs	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	1016	HTH CENPB-type.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTCTAGATTCTCCCCCTGGGA	0.527													-	151378465	C	-	151378465	7	5	4	1	0	1	0	1	0	0	0	0	12186	864	30	0	1190	0	POGZ	1	151378465	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	102442	151378465	97872156	212	2277											
POGZ	23126	broad.mit.edu	37	chr1	151396574	151396574	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttggtctggacggcatcGcccacgttctcatttggttc	11	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:151396574G>A	uc001eyd.2	-	8	1689	c.1374C>T	c.(1372-1374)ggC>ggT	p.G458G	POGZ_uc021oyq.1_Silent_p.G405G|POGZ_uc010pdb.2_Silent_p.G449G|POGZ_uc010pdc.2_Silent_p.G396G|POGZ_uc009wmv.2_Silent_p.G363G|POGZ_uc001eyf.2_Silent_p.G405G|POGZ_uc010pdd.2_Intron	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	458					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGACGGCATCGCCCACGTTCT	0.507													A	151396574	G	A	151396574	2	1	4	1	0	0	0	0	0	0	0	1	12186	1074	38	1		1	POGZ	1	151396574	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	18109	151396574	97854047	213	2278											
CELF3	11189	broad.mit.edu	37	chr1	151680282	151680282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcacggcctgggtgtaggCgctgtaggctccaaactgga	15	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:151680282C>T	uc001eys.2	-	5	1410	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	CELF3_uc010pdh.2_Missense_Mutation_p.A14T|CELF3_uc021oyt.1_Missense_Mutation_p.A159T|CELF3_uc009wmy.3_Missense_Mutation_p.A206T|CELF3_uc001eyr.3_Missense_Mutation_p.A205T|CELF3_uc009wmx.2_Missense_Mutation_p.A206T|CELF3_uc001eyt.2_Missense_Mutation_p.A129T|RIIAD1_uc001eyu.2_5'Flank	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN	Homo sapiens CUGBP, Elav-like family member 3 (CELF3), transcript variant 1, mRNA.	206					nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						TGGGTGTAGGCGCTGTAGGCT	0.677													T	151680282	C	T	151680282	3	4	4	1	0	0	0	0	1	0	0	0	3217	768	27	1	809	1	CELF3	1	151680282	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	283708	151680282	97570339	214	2279											
TDRKH	11022	broad.mit.edu	37	chr1	151747603	151747603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcaggaagctcaattgCgtatcctttgtgtactaatt	8	8	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:151747603C>T	uc009wnb.1	-	10	1656	c.1474G>A	c.(1474-1476)Gca>Aca	p.A492T	TDRKH_uc001eyy.2_Missense_Mutation_p.A268T|TDRKH_uc001ezb.4_Missense_Mutation_p.A488T|TDRKH_uc001ezc.4_Missense_Mutation_p.A447T|TDRKH_uc001eza.4_Missense_Mutation_p.A492T|TDRKH_uc001ezd.4_Missense_Mutation_p.A492T|TDRKH_uc010pdn.1_Missense_Mutation_p.A268T	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	492							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGCTCAATTGCGTATCCTTTG	0.408													T	151747603	C	T	151747603	3	4	4	1	0	0	0	0	1	0	0	0	15734	768	27	1	223	1	TDRKH	1	151747603	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	67321	151747603	97503018	215	2280											
TCHH	7062	broad.mit.edu	37	chr1	152082230	152082230	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcttctccggttcctctcTcagcagctgctcttcctcct	5	18	5	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:152082230T>G	uc009wne.1	-	2	3735	c.3463A>C	c.(3463-3465)Aga>Cga	p.R1155R	TCHH_uc001ezp.2_Silent_p.R1155R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1155	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTTCCTCTCTCAGCAGctgc	0.602													G	152082230	T	G	152082230	2	3	4	1	0	0	0	0	0	0	0	1	15697	1559	54	5		5	TCHH	1	152082230	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	334627	152082230	97168391	216	2281											
TCHH	7062	broad.mit.edu	37	chr1	152085491	152085491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattcgttgaaatcgacacGcccattactgtcaagatcca	7	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:152085491G>A	uc009wne.1	-	2	474	c.202C>T	c.(202-204)Cgt>Tgt	p.R68C	TCHH_uc001ezp.2_Missense_Mutation_p.R68C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	68	EF-hand 2.|S-100-like.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAATCGACACGCCCATTACTG	0.443													A	152085491	G	A	152085491	3	1	4	1	0	0	0	0	1	0	0	0	15697	1087	38	1	5633	1	TCHH	1	152085491	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3261	152085491	97165130	217	2282											
HRNR	388697	broad.mit.edu	37	chr1	152188001	152188001	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctggaagactgacctgagCtagctccatgttggccacag	13	11	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:152188001C>A	uc001ezt.1	-	2	6180	c.6104G>T	c.(6103-6105)aGc>aTc	p.S2035I		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2035					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGACCTGAGCTAGCTCCATG	0.572													A	152188001	C	A	152188001	3	1	4	1	0	0	0	0	1	0	0	0	7359	797	28	5	2452	5	HRNR	1	152188001	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	102510	152188001	97062620	218	2283											
FLG	2312	broad.mit.edu	37	chr1	152278792	152278792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtggaagcttcatggtgaCgcgaccctgagtgcctggag	16	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:152278792C>T	uc001ezu.1	-	2	8606	c.8570G>A	c.(8569-8571)cGt>cAt	p.R2857H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2857	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCATGGTGACGCGACCCTGA	0.572									Ichthyosis				T	152278792	C	T	152278792	3	4	4	1	0	0	0	0	1	0	0	0	5922	536	19	1	3619	1	FLG	1	152278792	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	90791	152278792	96971829	219	2284											
FLG2	388698	broad.mit.edu	37	chr1	152327382	152327382	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgatccatgttggccaaaGccagaggattgacctgagcc	11	12	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:152327382G>A	uc001ezw.4	-	2	2953	c.2880C>T	c.(2878-2880)ggC>ggT	p.G960G	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	960	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCAAAGCCAGAGGATT	0.502													A	152327382	G	A	152327382	2	1	4	1	0	0	0	0	0	0	0	1	5923	958	34	2		2	FLG2	1	152327382	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	48590	152327382	96923239	220	2285											
KPRP	448834	broad.mit.edu	37	chr1	152733226	152733226	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcttctgtccaccacggcgtCttgaccagtgtccagagtca	10	14	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:152733226C>A	uc001fal.1	+	1	1220	c.1162C>A	c.(1162-1164)Ctt>Att	p.L388I	KPRP_uc021ozf.1_Missense_Mutation_p.L388I	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	388	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCACGGCGTCTTGACCAGTG	0.647													A	152733226	C	A	152733226	3	1	4	1	0	0	0	0	1	0	0	0	8436	913	32	5	1164	5	KPRP	1	152733226	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	405844	152733226	96517395	221	2286											
LCE1F	353137	broad.mit.edu	37	chr1	152748933	152748933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtgccccacaccgaagtGccccccaaagtgtcccccta	7	19	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:152748933G>A	uc010pdv.2	+	0	86	c.86G>A	c.(85-87)tGc>tAc	p.C29Y		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	29	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			acaccgaagtgccccccaaag	0.657													A	152748933	G	A	152748933	3	1	4	1	0	0	0	0	1	0	0	0	8664	1319	46	2	88	2	LCE1F	1	152748933	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	15707	152748933	96501688	222	2287											
SPRR4	163778	broad.mit.edu	37	chr1	152944506	152944506	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaaaccaaggatccatgtgCtccccaggtcaagaagcaat	8	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:152944506C>A	uc001fav.1	+	1	203	c.140C>A	c.(139-141)gCt>gAt	p.A47D	SPRR4_uc021ozm.1_Missense_Mutation_p.A47D	NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	Homo sapiens small proline-rich protein 4 (SPRR4), mRNA.	47	Gln-rich.				keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GATCCATGTGCTCCCCAGGTC	0.557													A	152944506	C	A	152944506	3	1	4	1	0	0	0	0	1	0	0	0	15103	797	28	5	142	5	SPRR4	1	152944506	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	195573	152944506	96306115	223	2288											
NUP210L	91181	broad.mit.edu	37	chr1	154125256	154125256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgaggcgtatcggttgcGtagattcagcaatgagtaca	13	7	1	3	rs150389273	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:154125256G>A	uc001fdw.3	-	1	368	c.296C>T	c.(295-297)aCg>aTg	p.T99M	NUP210L_uc010peh.2_Missense_Mutation_p.T99M	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	99						integral to membrane		p.T99T(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TATCGGTTGCGTAGATTCAGC	0.423													A	154125256	G	A	154125256	3	1	4	1	0	0	0	0	1	0	0	0	10761	1145	40	1	5526	1	NUP210L	1	154125256	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1180750	154125256	95125365	224	2289											
TPM3	7170	broad.mit.edu	37	chr1	154145414	154145414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagctcgttcctctgtgCgttccaagtctccttcaatg	8	14	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:154145414C>T	uc001fec.1	-	4	651	c.536G>A	c.(535-537)cGc>cAc	p.R179H	TPM3_uc001fdx.1_5'Flank|TPM3_uc010pei.1_Missense_Mutation_p.R52H|TPM3_uc001fdy.1_Missense_Mutation_p.R142H|TPM3_uc001fdz.1_Missense_Mutation_p.R142H|TPM3_uc001fea.1_Missense_Mutation_p.R142H|TPM3_uc001feb.1_Missense_Mutation_p.R142H|TPM3_uc010pej.1_Missense_Mutation_p.R75H|TPM3_uc001fed.1_Missense_Mutation_p.R142H	NM_152263	NP_689476	P06753	TPM3_HUMAN	Homo sapiens tropomyosin 3 (TPM3), transcript variant 1, mRNA.	178					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TTCCTCTGTGCGTTCCAAGTC	0.468			T	"NTRK1, ALK, ROS1"	"papillary thyroid, ALCL, NSCLC"								T	154145414	C	T	154145414	3	4	4	1	0	0	0	0	1	0	0	0	16404	768	27	1	596	1	TPM3	1	154145414	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	20158	154145414	95105207	225	2290											
ATP8B2	57198	broad.mit.edu	37	chr1	154317952	154317952	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcaagtttctttgctatttCttctacaaaaactttgcttt	4	8	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:154317952C>A	uc001fex.3	+	22	2724	c.2724C>A	c.(2722-2724)ttC>ttA	p.F908L		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	894					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.Y907C(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTTGCTATTTCTTCTACAAAA	0.498											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	154317952	C	A	154317952	3	1	4	1	0	0	0	0	1	0	0	0	1195	912	32	5	2944	5	ATP8B2	1	154317952	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	172538	154317952	94932669	226	2291											
TDRD10	126668	broad.mit.edu	37	chr1	154493838	154493838	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctccatgcagaaagtgacActtgcaatccaggagctgaa	11	10	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:154493838A>C	uc009wow.3	+	5	1090	c.252A>C	c.(250-252)acA>acC	p.T84T	TDRD10_uc001ffd.3_Silent_p.T84T|TDRD10_uc001ffe.3_Silent_p.T5T	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	84	RRM.						RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGAAAGTGACACTTGCAATCC	0.498													C	154493838	A	C	154493838	2	2	4	1	0	0	0	0	0	0	0	1	15728	146	6	5		5	TDRD10	1	154493838	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	175886	154493838	94756783	227	2292											
UBE2Q1	55585	broad.mit.edu	37	chr1	154523896	154523896	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggctccaaactgcactcGtgctttccccttcaccagtg	8	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:154523896G>A	uc001fff.1	-	10	1238	c.1147C>T	c.(1147-1149)Cga>Tga	p.R383*		NM_017582	NP_060052	Q7Z7E8	UB2Q1_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2Q family member 1 (UBE2Q1), mRNA.	383							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AACTGCACTCGTGCTTTCCCC	0.582													A	154523896	G	A	154523896	4	1	4	1	0	0	0	0	0	1	0	0	16866	1153	40	1	133	1	UBE2Q1	1	154523896	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	30058	154523896	94726725	228	2293											
ADAR	103	broad.mit.edu	37	chr1	154574691	154574691	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcttccaggaactttaagaTcctttgttcctgatcttggt	7	10	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:154574691T>A	uc001ffh.3	-	1	669	c.427A>T	c.(427-429)Atc>Ttc	p.I143F	ADAR_uc021pag.1_5'UTR|ADAR_uc001ffj.3_Missense_Mutation_p.I143F|ADAR_uc001ffi.3_Missense_Mutation_p.I143F|ADAR_uc001ffk.3_5'UTR|ADAR_uc001ffl.1_5'UTR|ADAR_uc001ffm.1_Non-coding_Transcript|ADAR_uc001ffn.2_3'UTR	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	143					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		AACTTTAAGATCCTTTGTTCC	0.483													A	154574691	T	A	154574691	3	1	4	1	0	0	0	0	1	0	0	0	281	1435	50	5	3309	5	ADAR	1	154574691	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	50795	154574691	94675930	229	2294											
KCNN3	3782	broad.mit.edu	37	chr1	154698441	154698441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttatgaacgtgcttctccGctttggtgagttccagcttt	10	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:154698441G>A	uc021pah.1	-	5	2011	c.1697C>T	c.(1696-1698)gCg>gTg	p.A566V	KCNN3_uc001ffo.3_Missense_Mutation_p.A246V|KCNN3_uc001ffp.3_Missense_Mutation_p.A551V	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	556	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GTGCTTCTCCGCTTTGGTGAG	0.567													A	154698441	G	A	154698441	3	1	4	1	0	0	0	0	1	0	0	0	8080	1087	38	1	559	1	KCNN3	1	154698441	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	123750	154698441	94552180	230	2295											
PBXIP1	57326	broad.mit.edu	37	chr1	154919108	154919108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcacaccccatctgggcCccggacacagtcggcctcca	11	18	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:154919108C>T	uc001ffr.3	-	9	1101	c.1042G>A	c.(1042-1044)Ggc>Agc	p.G348S	PBXIP1_uc001ffs.3_Missense_Mutation_p.G319S|PBXIP1_uc010pep.2_Missense_Mutation_p.G193S	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	348					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCATCTGGGCCCCGGACACAG	0.692													T	154919108	C	T	154919108	3	4	4	1	0	0	0	0	1	0	0	0	11496	623	22	4	1161	4	PBXIP1	1	154919108	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	220667	154919108	94331513	231	2296											
SHC1	6464	broad.mit.edu	37	chr1	154938054	154938054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagtagcaaatgcttagGctgcccactctgcaagccag	9	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:154938054G>A	uc001ffv.3	-	10	1809	c.1588C>T	c.(1588-1590)Cct>Tct	p.P530S	SHC1_uc001ffw.3_Missense_Mutation_p.P531S|SHC1_uc001ffx.3_Missense_Mutation_p.P421S|SHC1_uc001ffy.3_Missense_Mutation_p.P420S|SHC1_uc001ffz.1_Missense_Mutation_p.P301S	NM_183001	NP_001189788	P29353	SHC1_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 1 (SHC1), transcript variant 1, mRNA.	530	SH2.				Ras protein signal transduction|activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|regulation of epidermal growth factor receptor activity|regulation of growth	Shc-EGFR complex|cytosol|mitochondrial matrix	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAATGCTTAGGCTGCCCACTC	0.582													A	154938054	G	A	154938054	3	1	4	1	0	0	0	0	1	0	0	0	14270	1203	42	2	171	2	SHC1	1	154938054	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	18946	154938054	94312567	232	2297											
DCST2	127579	broad.mit.edu	37	chr1	154999075	154999075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagggacgaaggagacaacGccgggacaaaatactgatgt	14	8	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:154999075G>A	uc001fgm.3	-	8	1539	c.1459C>T	c.(1459-1461)Cgt>Tgt	p.R487C	DCST2_uc009wpb.3_Non-coding_Transcript	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	487						integral to membrane		p.R487L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	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)			AGGAGACAACGCCGGGACAAA	0.532													A	154999075	G	A	154999075	3	1	4	1	0	0	0	0	1	0	0	0	4303	1087	38	1	890	1	DCST2	1	154999075	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	61021	154999075	94251546	233	2298											
DCST1	149095	broad.mit.edu	37	chr1	155014205	155014205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagatgtggtgaaccaggCcatactcagctgccgtcgtt	11	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:155014205C>T	uc001fgn.2	+	7	878	c.764C>T	c.(763-765)gCc>gTc	p.A255V	DCST1_uc010per.2_Missense_Mutation_p.A280V|DCST1_uc010pes.2_Missense_Mutation_p.A230V	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	Homo sapiens DC-STAMP domain containing 1 (DCST1), transcript variant 1, mRNA.	255						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GTGAACCAGGCCATACTCAGC	0.577													T	155014205	C	T	155014205	3	4	4	1	0	0	0	0	1	0	0	0	4302	739	26	2	790	2	DCST1	1	155014205	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	15130	155014205	94236416	234	2299											
ASH1L	55870	broad.mit.edu	37	chr1	155317653	155317653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtaataggcctttcgtagacGacaaacatctctcccaactg	7	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:155317653G>A	uc009wqq.3	-	19	8092	c.7612C>T	c.(7612-7614)Cgt>Tgt	p.R2538C	ASH1L_uc001fkt.3_Missense_Mutation_p.R2533C|ASH1L_uc021pay.1_5'Flank	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2538					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTCGTAGACGACAAACATCT	0.453													A	155317653	G	A	155317653	3	1	4	1	0	0	0	0	1	0	0	0	1041	1058	37	1	1333	1	ASH1L	1	155317653	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	303448	155317653	93932968	235	2300											
TMEM79	84283	broad.mit.edu	37	chr1	156255748	156255748	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacacactgcgctgcggggTctttgccaccttccccattg	9	16	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:156255748T>C	uc010phi.2	+	1	927	c.731T>C	c.(730-732)gTc>gCc	p.V244A	TMEM79_uc001fod.3_Missense_Mutation_p.V85A|TMEM79_uc009wrw.3_Missense_Mutation_p.V244A	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	Homo sapiens transmembrane protein 79 (TMEM79), transcript variant 1, mRNA.	244						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					CGCTGCGGGGTCTTTGCCACC	0.607													C	156255748	T	C	156255748	3	2	4	1	0	0	0	0	1	0	0	0	16200	1667	58	3	733	3	TMEM79	1	156255748	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	938095	156255748	92994873	236	2301											
MEF2D	4209	broad.mit.edu	37	chr1	156452240	156452240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggcccacctcgatgatgtCggcgttggtgcggctctcgt	15	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:156452240C>T	uc001fpc.3	-	2	637	c.247G>A	c.(247-249)Gac>Aac	p.D83N	MEF2D_uc001fpb.3_Missense_Mutation_p.D83N|MEF2D_uc001fpd.3_Missense_Mutation_p.D83N|MEF2D_uc009wsa.3_Non-coding_Transcript|MEF2D_uc001fpe.1_Missense_Mutation_p.D83N	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	Homo sapiens myocyte enhancer factor 2D (MEF2D), mRNA.	83					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCGATGATGTCGGCGTTGGTG	0.587													T	156452240	C	T	156452240	3	4	4	1	0	0	0	0	1	0	0	0	9458	884	31	1	1358	1	MEF2D	1	156452240	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	196492	156452240	92798381	237	2302											
SH2D2A	9047	broad.mit.edu	37	chr1	156779590	156779590	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctcagggaaagtcctgcagGctcaggagtctgctgggaaa	14	10	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:156779590G>C	uc009wsh.2	-	5	747	c.607C>G	c.(607-609)Cct>Gct	p.P203A	SH2D2A_uc001fqc.1_Missense_Mutation_p.P165A|SH2D2A_uc001fqd.2_Missense_Mutation_p.P193A|SH2D2A_uc001fqe.2_Missense_Mutation_p.P175A|SH2D2A_uc010phs.1_Missense_Mutation_p.P193A	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	Homo sapiens SH2 domain containing 2A (SH2D2A), transcript variant 1, mRNA.	193	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.E202Q(1)|p.E202*(1)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGTCCTGCAGGCTCAGGAGTC	0.552													C	156779590	G	C	156779590	3	2	4	1	0	0	0	0	1	0	0	0	14232	1203	42	5	604	5	SH2D2A	1	156779590	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	327350	156779590	92471031	238	2303											
INSRR	3645	broad.mit.edu	37	chr1	156812271	156812271	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgaccagagttggctgGccctgagataccacacccag	11	12	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:156812271G>A	uc010pht.2	-	17	3455	c.3156C>T	c.(3154-3156)ggC>ggT	p.G1052G	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1052	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGTTGGCTGGCCCTGAGATA	0.567													A	156812271	G	A	156812271	2	1	4	1	0	0	0	0	0	0	0	1	7774	1190	42	2		2	INSRR	1	156812271	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	32681	156812271	92438350	239	2304											
CD1D	912	broad.mit.edu	37	chr1	158151348	158151348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgggggagctgcagacGcacagctggagcaacgactc	16	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:158151348G>A	uc001frr.3	+	2	664	c.165G>A	c.(163-165)acG>acA	p.T55T	CD1D_uc009wsr.1_Silent_p.T55T|CD1D_uc009wss.3_Silent_p.T55T|CD1D_uc009wst.1_5'UTR	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	55					T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.T55M(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGCTGCAGACGCACAGCTGGA	0.632													A	158151348	G	A	158151348	2	1	4	1	0	0	0	0	0	0	0	1	2977	1074	38	1		1	CD1D	1	158151348	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1339077	158151348	91099273	240	2305											
CD1B	910	broad.mit.edu	37	chr1	158298045	158298045	+	Missense_Mutation	SNP	G	G	A													ctcatgggatattctgatatGacctgttaaaaacagaagaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:158298045G>A	uc001frx.3	-	5	1091	c.983C>T	c.(982-984)tCa>tTa	p.S328L	CD1B_uc001frw.3_Missense_Mutation_p.S273L	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	328					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ATTCTGATATGACCTGTTAAA	0.363													A	158298045	G	A	158298045	3	1	4	1	0	0	0	0	1	0	0	0	2975	1294	45	4	22	4	CD1B	1	158298045	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	146697	158298045	90952576	241	2306	5	2									
CD1B	910	broad.mit.edu	37	chr1	158298046	158298046	+	Splice_Site	SNP	A	A	T													tcatgggatattctgatatgAcctgttaaaaacagaagaac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:158298046A>T	uc001frx.3	-	6	1089	c.981_splice	c.e6-1	p.R327_splice	CD1B_uc001frw.3_Splice_Site_p.R272_splice	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	327					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TTCTGATATGACCTGTTAAAA	0.368													T	158298046	A	T	158298046	5	4	4	1	0	0	0	0	0	0	1	0	2975	289	10	5	23	5	CD1B	1	158298046	Splice_Site	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1	158298046	90952575	242	2307	5	2									
OR6K2	81448	broad.mit.edu	37	chr1	158669993	158669993	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggggtgtgataaagccAcaaacacagcaacttaaagt	11	7	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:158669993A>G	uc001fsu.1	-	0	450	c.450T>C	c.(448-450)tgT>tgC	p.C150C		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGATAAAGCCACAAACACAGC	0.478													G	158669993	A	G	158669993	2	3	4	1	0	0	0	0	0	0	0	1	11202	157	6	3		3	OR6K2	1	158669993	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	371947	158669993	90580628	243	2308											
OR6K6	128371	broad.mit.edu	37	chr1	158724726	158724726	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacaatggtgactgagttcCtcttctctatgttcccgcat	8	11	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:158724726C>A	uc001fsw.1	+	0	121	c.121C>A	c.(121-123)Ctc>Atc	p.L41I		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					GACTGAGTTCCTCTTCTCTAT	0.423													A	158724726	C	A	158724726	3	1	4	1	0	0	0	0	1	0	0	0	11204	681	24	5	123	5	OR6K6	1	158724726	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	54733	158724726	90525895	244	2309											
OR6K6	128371	broad.mit.edu	37	chr1	158725144	158725144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttggatcctgcttttgtgGcttcctccttgtgcttcctg	10	11	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:158725144G>A	uc001fsw.1	+	0	539	c.539G>A	c.(538-540)gGc>gAc	p.G180D		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGCTTTTGTGGCTTCCTCCTT	0.478													A	158725144	G	A	158725144	3	1	4	1	0	0	0	0	1	0	0	0	11204	1203	42	2	541	2	OR6K6	1	158725144	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	418	158725144	90525477	245	2310											
OR6K6	128371	broad.mit.edu	37	chr1	158725344	158725344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattgctctatcctacatcCggattattatagtgattctg	6	9	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:158725344C>T	uc001fsw.1	+	0	739	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	247			R -> Q (in dbSNP:rs16841038).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					ATCCTACATCCGGATTATTAT	0.478													T	158725344	C	T	158725344	3	4	4	1	0	0	0	0	1	0	0	0	11204	643	23	1	741	1	OR6K6	1	158725344	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	200	158725344	90525277	246	2311											
OR6N1	128372	broad.mit.edu	37	chr1	158735692	158735692	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtagctcttcttcagctGcacatacatggaaaggatgc	10	9	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:158735692G>A	uc010piq.2	-	0	781	c.781C>T	c.(781-783)Cag>Tag	p.Q261*		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	261			Q -> R (in dbSNP:rs857825).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TTCTTCAGCTGCACATACATG	0.537													A	158735692	G	A	158735692	4	1	4	1	0	0	0	0	0	1	0	0	11206	1328	46	2	160	2	OR6N1	1	158735692	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	10348	158735692	90514929	247	2312											
MNDA	4332	broad.mit.edu	37	chr1	158813117	158813117	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctccagtgaaaaaaataaAccaggaagaagtgggtcttg	11	6	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:158813117A>G	uc001fsz.1	+	2	514	c.314A>G	c.(313-315)aAc>aGc	p.N105S		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	105					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAAAAAATAAACCAGGAAGAA	0.428													G	158813117	A	G	158813117	3	3	4	1	0	0	0	0	1	0	0	0	9676	43	2	3	320	3	MNDA	1	158813117	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	77425	158813117	90437504	248	2313											
OR10J1	26476	broad.mit.edu	37	chr1	159409955	159409955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatatgaccgctatgtggCcatctgcaaccccctgagat	11	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:159409955C>T	uc010piv.2	+	0	444	c.407C>T	c.(406-408)gCc>gTc	p.A136V	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	136					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CGCTATGTGGCCATCTGCAAC	0.483													T	159409955	C	T	159409955	3	4	4	1	0	0	0	0	1	0	0	0	10910	739	26	2	409	2	OR10J1	1	159409955	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	596838	159409955	89840666	249	2314											
CCDC19	25790	broad.mit.edu	37	chr1	159850438	159850438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggttttcatcattgatgCgcttaatctcagcttgcatc	7	10	4	1	rs138411937		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:159850438C>T	uc001fui.3	-	7	968	c.950G>A	c.(949-951)cGc>cAc	p.R317H	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.R232H|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.R303H	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	317						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ATCATTGATGCGCTTAATCTC	0.463													T	159850438	C	T	159850438	3	4	4	1	0	0	0	0	1	0	0	0	2795	768	27	1	725	1	CCDC19	1	159850438	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	440483	159850438	89400183	250	2315											
IGSF9	57549	broad.mit.edu	37	chr1	159907504	159907504	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagatgcacccaggagccGttagcaaaatcgtcttcagg	11	11	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:159907504G>A	uc001fur.2	-	3	570	c.372C>T	c.(370-372)aaC>aaT	p.N124N	IGSF9_uc001fuq.2_Silent_p.N124N	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	124	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCAGGAGCCGTTAGCAAAAT	0.592													A	159907504	G	A	159907504	2	1	4	1	0	0	0	0	0	0	0	1	7605	1136	40	1		1	IGSF9	1	159907504	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	57066	159907504	89343117	251	2316											
KCNJ10	3766	broad.mit.edu	37	chr1	160011659	160011659	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttctccccttccttggtttGgtgggtctgaagcagttttc	11	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:160011659G>T	uc001fuw.2	-	1	904	c.664C>A	c.(664-666)Caa>Aaa	p.Q222K		NM_002241	NP_002232	P78508	IRK10_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA.	222						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCTTGGTTTGGTGGGTCTGA	0.527													T	160011659	G	T	160011659	3	4	4	1	0	0	0	0	1	0	0	0	8044	1357	47	5	479	5	KCNJ10	1	160011659	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	104155	160011659	89238962	252	2317											
IGSF8	93185	broad.mit.edu	37	chr1	160062178	160062178	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggcacagtggtacacGccttcatcctcgggccccaa	12	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:160062178G>A	uc001fva.3	-	4	1665	c.1620C>T	c.(1618-1620)ggC>ggT	p.G540G	IGSF8_uc001fuz.3_Silent_p.G540G|IGSF8_uc009wtf.3_Silent_p.G540G	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA.	540	Ig-like C2-type 4.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.G540S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGTGGTACACGCCTTCATCCT	0.662													A	160062178	G	A	160062178	2	1	4	1	0	0	0	0	0	0	0	1	7604	1074	38	1		1	IGSF8	1	160062178	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	50519	160062178	89188443	253	2318											
ATP1A4	480	broad.mit.edu	37	chr1	160151577	160151577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatctccaagactcgccGcaactcacttttccagcagg	6	16	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:160151577G>A	uc001fve.4	+	18	3319	c.2840G>A	c.(2839-2841)cGc>cAc	p.R947H	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Missense_Mutation_p.R450H|ATP1A4_uc001fvh.3_Missense_Mutation_p.R83H	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	947					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.R947C(1)|p.R946H(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAGACTCGCCGCAACTCACTT	0.527													A	160151577	G	A	160151577	3	1	4	1	0	0	0	0	1	0	0	0	1131	1087	38	1	2914	1	ATP1A4	1	160151577	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	89399	160151577	89099044	254	2319											
COPA	1314	broad.mit.edu	37	chr1	160261166	160261166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcccgagttctagtaggcGccgagcaaaggtggcagctg	17	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:160261166G>A	uc001fvv.4	-	30	3800	c.3406C>T	c.(3406-3408)Cgc>Tgc	p.R1136C	COPA_uc009wti.3_Missense_Mutation_p.R1127C	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	1127					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTAGTAGGCGCCGAGCAAAG	0.547											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	160261166	G	A	160261166	3	1	4	1	0	0	0	0	1	0	0	0	3727	1087	38	1	307	1	COPA	1	160261166	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	109589	160261166	88989455	255	2320											
ARHGAP30	257106	broad.mit.edu	37	chr1	161017601	161017601	+	Frame_Shift_Del	DEL	G	G	-													tcaggaacctggggttctctGgggggcagactaagacgact							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:161017600_161017600TG>T	uc001fxl.3	-	11	3557	c.3211_3211CA>A	c.(3211-3213)agafs	p.R1071fs	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Frame_Shift_Del_p.R860fs|ARHGAP30_uc001fxm.3_Frame_Shift_Del_p.R917fs|ARHGAP30_uc009wtx.3_Frame_Shift_Del_p.R744fs	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	1071					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TGGGGTTCTCTGGGGGGCAGA	0.567													-	161017601	G	-	161017601	7	5	4	1	0	1	0	1	0	0	0	0	879	1335	47	0	99	0	ARHGAP30	1	161017601	Frame_Shift_Del	DEL	G	TCGA-BR-4184-01A-01D-1126-08	756435	161017601	88233020	256	2321											
ARHGAP30	257106	broad.mit.edu	37	chr1	161022260	161022260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccccgtggaagtttacGcttagtctcatggccagagc	11	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:161022260G>A	uc001fxl.3	-	7	1256	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	ARHGAP30_uc001fxk.3_Missense_Mutation_p.R304C|ARHGAP30_uc001fxm.3_Missense_Mutation_p.R150C|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.R150C	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	304					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGAAGTTTACGCTTAGTCTCA	0.552													A	161022260	G	A	161022260	3	1	4	1	0	0	0	0	1	0	0	0	879	1087	38	1	2415	1	ARHGAP30	1	161022260	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4659	161022260	88228361	257	2322											
ARHGAP30	257106	broad.mit.edu	37	chr1	161039355	161039355	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggtgctcctgcaagtcGcacccaaaaacccgctcctt	8	16	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:161039355G>A	uc001fxl.3	-	0	406	c.60C>T	c.(58-60)tgC>tgT	p.C20C	ARHGAP30_uc001fxk.3_Silent_p.C20C|ARHGAP30_uc001fxm.3_5'UTR|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_5'UTR	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	20	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.C20C(3)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCTGCAAGTCGCACCCAAAAA	0.637													A	161039355	G	A	161039355	2	1	4	1	0	0	0	0	0	0	0	1	879	1079	38	1		1	ARHGAP30	1	161039355	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	17095	161039355	88211266	258	2323											
DEDD	9191	broad.mit.edu	37	chr1	161094125	161094125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagaggaaagaaagcacgCgcacatctctgtgtgtcaga	11	9	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:161094125C>T	uc009wty.3	-	1	225	c.128G>A	c.(127-129)cGc>cAc	p.R43H	NIT1_uc001fxw.3_3'UTR|DEDD_uc001fxz.3_Missense_Mutation_p.R43H|DEDD_uc001fya.3_Missense_Mutation_p.R43H|DEDD_uc001fyb.3_Missense_Mutation_p.R43H|DEDD_uc010pkb.2_Intron	NM_001039712	NP_127491	O75618	DEDD_HUMAN	Homo sapiens death effector domain containing (DEDD), transcript variant 4, mRNA.	43	DED.				apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGAAAGCACGCGCACATCTCT	0.547													T	161094125	C	T	161094125	3	4	4	1	0	0	0	0	1	0	0	0	4384	768	27	1	844	1	DEDD	1	161094125	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	54770	161094125	88156496	259	2324											
USP21	27005	broad.mit.edu	37	chr1	161130563	161130563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaaacccagcctctgggCcaaaccccatgttacgacct	8	16	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:161130563C>T	uc010pkc.2	+	2	510	c.133C>T	c.(133-135)Cca>Tca	p.P45S	USP21_uc010pkd.2_Missense_Mutation_p.P45S	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	45					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGCCTCTGGGCCAAACCCCAT	0.632													T	161130563	C	T	161130563	3	4	4	1	0	0	0	0	1	0	0	0	17050	739	26	2	135	2	USP21	1	161130563	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	36438	161130563	88120058	260	2325											
NDUFS2	4720	broad.mit.edu	37	chr1	161180180	161180180	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacttaactatggttttagGtgaggggaatacaacttctc	10	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:161180180G>T	uc001fyv.3	+	9	1314	c.866_splice	c.e9+1	p.S289_splice	NDUFS2_uc010pki.2_Splice_Site_p.S191_splice|NDUFS2_uc001fyw.3_Splice_Site_p.S289_splice|NDUFS2_uc010pkj.2_Splice_Site_p.S238_splice	NM_004550	NP_004541	O75306	NDUS2_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) (NDUFS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	289					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	ATGGTTTTAGGTGAGGGGAAT	0.458											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	161180180	G	T	161180180	5	4	4	1	0	0	0	0	0	0	1	0	10292	1275	44	5	897	5	NDUFS2	1	161180180	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	49617	161180180	88070441	261	2326											
MPZ	4359	broad.mit.edu	37	chr1	161277190	161277190	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccctgtcggtgtaaaccAcgatggcctgggccggggac	14	14	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:161277190A>G	uc001gaf.4	-	1	159	c.92T>C	c.(91-93)gTg>gCg	p.V31A		NM_000530	NP_000521	P25189	MYP0_HUMAN	Homo sapiens myelin protein zero (MPZ), mRNA.	31	Ig-like V-type.				synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGTGTAAACCACGATGGCCTG	0.577													G	161277190	A	G	161277190	3	3	4	1	0	0	0	0	1	0	0	0	9748	159	6	3	674	3	MPZ	1	161277190	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	97010	161277190	87973431	262	2327											
HSPA6	3310	broad.mit.edu	37	chr1	161495324	161495324	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagactccctgttcgagggCgtggacttctacacgtccat	10	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:161495324C>T	uc001gaq.3	+	0	1289	c.876C>T	c.(874-876)ggC>ggT	p.G292G	TRNA_Gly_uc021pdc.1_5'Flank	NM_002155	NP_002146	P17066	HSP76_HUMAN	Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA.	292					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGTTCGAGGGCGTGGACTTCT	0.657													T	161495324	C	T	161495324	2	4	4	1	0	0	0	0	0	0	0	1	7415	755	27	1		1	HSPA6	1	161495324	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	218134	161495324	87755297	263	2328											
FCGR3A	2214	broad.mit.edu	37	chr1	161514508	161514508	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccttgagtgatggtgatgTtcacagtctctgaagacaca	10	9	2	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:161514508T>C	uc001gar.3	-	3	852	c.668A>G	c.(667-669)aAc>aGc	p.N223S	FCGR3A_uc001gas.3_Missense_Mutation_p.N222S|FCGR3A_uc001gat.4_Missense_Mutation_p.N187S|FCGR3A_uc009wuh.3_Missense_Mutation_p.N186S|FCGR3A_uc009wui.3_Missense_Mutation_p.N187S	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	187					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GATGGTGATGTTCACAGTCTC	0.502													C	161514508	T	C	161514508	3	2	4	1	0	0	0	0	1	0	0	0	5784	1725	60	3	212	3	FCGR3A	1	161514508	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	19184	161514508	87736113	264	2329											
FCGR3B	2215	broad.mit.edu	37	chr1	161599810	161599810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctccaggaacaccacaGcctttgggagatcttctgag	12	11	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:161599810G>A	uc009wul.3	-	2	445	c.185C>T	c.(184-186)gCt>gTt	p.A62V	FCGR3B_uc021pdo.1_Missense_Mutation_p.A26V	NM_001244753	NP_001231682	O75015	FCG3B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIb, receptor (CD16b) (FCGR3B), transcript variant 1, mRNA.	26	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAACACCACAGCCTTTGGGAG	0.552													A	161599810	G	A	161599810	3	1	4	1	0	0	0	0	1	0	0	0	5785	971	34	2	636	2	FCGR3B	1	161599810	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	85302	161599810	87650811	265	2330											
OLFML2B	25903	broad.mit.edu	37	chr1	161967927	161967927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggtcccactgaggcatGgttggcgatgctgggatctg	16	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:161967927G>A	uc010pkq.2	-	5	1589	c.1165C>T	c.(1165-1167)Cat>Tat	p.H389Y	OLFML2B_uc001gbu.3_Missense_Mutation_p.H388Y	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	388										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ACTGAGGCATGGTTGGCGATG	0.607													A	161967927	G	A	161967927	3	1	4	1	0	0	0	0	1	0	0	0	10858	1348	47	4	1102	4	OLFML2B	1	161967927	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	368117	161967927	87282694	266	2331											
UHMK1	127933	broad.mit.edu	37	chr1	162473601	162473601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaagcagtggtgaatgccGcaattccagcctatcaccta	9	11	1	1	rs150990527		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:162473601G>A	uc001gcc.2	+	3	1007	c.811G>A	c.(811-813)Gca>Aca	p.A271T	UHMK1_uc001gcd.3_Missense_Mutation_p.A197T|UHMK1_uc009wuu.2_Missense_Mutation_p.A271T	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	Homo sapiens U2AF homology motif (UHM) kinase 1 (UHMK1), transcript variant 1, mRNA.	271	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	RNA binding|protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GGTGAATGCCGCAATTCCAGC	0.373													A	162473601	G	A	162473601	3	1	4	1	0	0	0	0	1	0	0	0	16963	1087	38	1	875	1	UHMK1	1	162473601	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	505674	162473601	86777020	267	2332											
PBX1	5087	broad.mit.edu	37	chr1	164769123	164769123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgttcccgatttctggatgCgcggtgagtctcccatgggg	15	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:164769123C>T	uc001gct.3	+	3	1161	c.698C>T	c.(697-699)gCg>gTg	p.A233V	PBX1_uc010pku.2_Missense_Mutation_p.A233V|PBX1_uc001gcs.3_Missense_Mutation_p.A233V|PBX1_uc010pkv.2_Missense_Mutation_p.A150V|PBX1_uc010pkw.1_Missense_Mutation_p.A123V	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	233					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TTTCTGGATGCGCGGTGAGTC	0.612			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"								T	164769123	C	T	164769123	3	4	4	1	0	0	0	0	1	0	0	0	11492	768	27	1	712	1	PBX1	1	164769123	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2295522	164769123	84481498	268	2333											
LMX1A	4009	broad.mit.edu	37	chr1	165322399	165322399	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcaggaggcgcactgcacGcactgctcatgccagaagct	12	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:165322399G>A	uc001gcz.2	-	2	371	c.177C>T	c.(175-177)tgC>tgT	p.C59C	LMX1A_uc021pdz.1_Silent_p.C59C	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	59	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q58K(1)		NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CGCACTGCACGCACTGCTCAT	0.592													A	165322399	G	A	165322399	2	1	4	1	0	0	0	0	0	0	0	1	8861	1079	38	1		1	LMX1A	1	165322399	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	553276	165322399	83928222	269	2334											
DUSP27	92235	broad.mit.edu	37	chr1	167096298	167096298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggagagccagtctatgGcaagctgggaggcggacagc	18	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:167096298G>A	uc001geb.1	+	4	1946	c.1930G>A	c.(1930-1932)Gca>Aca	p.A644T		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	644					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCAGTCTATGGCAAGCTGGGA	0.642													A	167096298	G	A	167096298	3	1	4	1	0	0	0	0	1	0	0	0	4824	1203	42	2	1948	2	DUSP27	1	167096298	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1773899	167096298	82154323	270	2335											
CD247	919	broad.mit.edu	37	chr1	167400950	167400950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcctgcatgtgaagggCgtcgtaggtgtccttggtgg	18	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:167400950C>T	uc001gei.4	-	7	608	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	CD247_uc001gej.4_Missense_Mutation_p.A154T	NM_198053	NP_932170	P20963	CD3Z_HUMAN	Homo sapiens CD247 molecule (CD247), transcript variant 1, mRNA.	155	ITAM 3.				T cell costimulation|T cell receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			ATGTGAAGGGCGTCGTAGGTG	0.567													T	167400950	C	T	167400950	3	4	4	1	0	0	0	0	1	0	0	0	2988	768	27	1	35	1	CD247	1	167400950	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	304652	167400950	81849671	271	2336											
GPR161	23432	broad.mit.edu	37	chr1	168065850	168065850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgcccagtagttctttgCgaactgtcttgttccagagt	9	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:168065850C>T	uc010pln.2	-	3	1589	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H	GPR161_uc001gfb.3_Missense_Mutation_p.R200H|GPR161_uc001gfc.3_Missense_Mutation_p.R332H|GPR161_uc010pll.2_Missense_Mutation_p.R242H|GPR161_uc010plm.2_Missense_Mutation_p.R218H|GPR161_uc009wvo.3_Missense_Mutation_p.R349H|GPR161_uc001gfd.3_Missense_Mutation_p.R332H|GPR161_uc001gfe.1_Missense_Mutation_p.R332H	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	332					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					TAGTTCTTTGCGAACTGTCTT	0.552													T	168065850	C	T	168065850	3	4	4	1	0	0	0	0	1	0	0	0	6665	768	27	1	610	1	GPR161	1	168065850	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	664900	168065850	81184771	272	2337											
SELL	6402	broad.mit.edu	37	chr1	169672454	169672454	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gattcacaaatggttttcttCttcccaattaactcagttcc	4	11	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:169672454C>A	uc010pls.2	-	3	862	c.753G>T	c.(751-753)aaG>aaT	p.K251N	C1orf112_uc001ggj.3_Intron|SELL_uc001ggk.3_Missense_Mutation_p.K311N|SELL_uc001ggl.2_Missense_Mutation_p.K311N	NM_000655	NP_000646	P14151	LYAM1_HUMAN	Homo sapiens selectin L (SELL), transcript variant 1, mRNA.	298	Sushi 1.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TGGTTTTCTTCTTCCCAATTA	0.423													A	169672454	C	A	169672454	3	1	4	1	0	0	0	0	1	0	0	0	14016	912	32	5	240	5	SELL	1	169672454	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1606604	169672454	79578167	273	2338											
SELE	6401	broad.mit.edu	37	chr1	169697058	169697058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggctggtggacagcatcGcatctcacagctggaacaca	14	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:169697058G>A	uc001ggm.4	-	8	1447	c.1290C>T	c.(1288-1290)tgC>tgT	p.C430C	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	430	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GGACAGCATCGCATCTCACAG	0.502													A	169697058	G	A	169697058	2	1	4	1	0	0	0	0	0	0	0	1	14013	1079	38	1		1	SELE	1	169697058	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	24604	169697058	79553563	274	2339											
SCYL3	57147	broad.mit.edu	37	chr1	169823904	169823904	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacatccaaggtagtgcacTgggacttgacatcatcacaa	8	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:169823904T>C	uc001ggs.2	-	12	1874	c.1676A>G	c.(1675-1677)cAg>cGg	p.Q559R	SCYL3_uc010plw.1_Missense_Mutation_p.Q151R|SCYL3_uc001ggt.2_Missense_Mutation_p.Q505R	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	559	Interaction with EZR.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGTAGTGCACTGGGACTTGAC	0.478													C	169823904	T	C	169823904	3	2	4	1	0	0	0	0	1	0	0	0	13949	1580	55	3	560	3	SCYL3	1	169823904	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	126846	169823904	79426717	275	2340											
FMO2	2327	broad.mit.edu	37	chr1	171178010	171178010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcgccttagagataggtgCgaagccagatttctgctctc	11	11	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:171178010C>T	uc001ghk.1	+	8	1451	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	FMO2_uc010pmd.1_Missense_Mutation_p.A225V	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	445					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.A445V(2)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGATAGGTGCGAAGCCAGAT	0.473													T	171178010	C	T	171178010	3	4	4	1	0	0	0	0	1	0	0	0	5955	768	27	1	1364	1	FMO2	1	171178010	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1354106	171178010	78072611	276	2341											
FMO1	2326	broad.mit.edu	37	chr1	171252297	171252297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacaggtgtaaataagttaCcaccaccaagtgtcatgata	7	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:171252297C>T	uc009wvz.3	+	7	1334	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S	FMO1_uc010pme.2_Missense_Mutation_p.P337S|FMO1_uc001ghl.3_Missense_Mutation_p.P400S|FMO1_uc001ghm.3_Missense_Mutation_p.P400S	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	400					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAATAAGTTACCACCACCAAG	0.338													T	171252297	C	T	171252297	3	4	4	1	0	0	0	0	1	0	0	0	5954	507	18	4	1224	4	FMO1	1	171252297	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	74287	171252297	77998324	277	2342											
C1orf9	51430	broad.mit.edu	37	chr1	172558919	172558919	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttttatgctgaattgcaaaAttctacagatctaggatatg	7	5	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:172558919A>T	uc001giq.4	+	17	2994	c.2678A>T	c.(2677-2679)aAt>aTt	p.N893I	C1orf9_uc010pmm.1_Missense_Mutation_p.N893I|C1orf9_uc009wwd.3_Missense_Mutation_p.N849I|C1orf9_uc010pmn.2_Intron|C1orf9_uc010pmo.2_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	Homo sapiens chromosome 1 open reading frame 9 (C1orf9), transcript variant 1, mRNA.	893					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				breast(1)|endometrium(5)|large_intestine(10)|lung(14)|ovary(2)|skin(2)|urinary_tract(1)	35		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		GAATTGCAAAATTCTACAGAT	0.353													T	172558919	A	T	172558919	3	4	4	1	0	0	0	0	1	0	0	0	2067	101	4	5	2748	5	C1orf9	1	172558919	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1306622	172558919	76691702	278	2343											
TNFSF18	8995	broad.mit.edu	37	chr1	173019955	173019955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataactattgagcaaaagaGccacagcttccaggatgatc	8	10	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:173019955G>A	uc001giu.2	-	0	149	c.148C>T	c.(148-150)Ctc>Ttc	p.L50F		NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA.	50					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						GAGCAAAAGAGCCACAGCTTC	0.393													A	173019955	G	A	173019955	3	1	4	1	0	0	0	0	1	0	0	0	16306	971	34	2	463	2	TNFSF18	1	173019955	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	461036	173019955	76230666	279	2344											
GPR52	9293	broad.mit.edu	37	chr1	174417499	174417499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctatttcattcagacgatgGcatatgctgatcttttcgtt	8	8	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:174417499G>A	uc001gka.1	+	0	288	c.250G>A	c.(250-252)Gca>Aca	p.A84T	RABGAP1L_uc001gjw.3_Intron|RABGAP1L_uc001gjx.3_Intron|RABGAP1L_uc001gjy.3_Intron|RABGAP1L_uc001gjz.3_Intron	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	Homo sapiens G protein-coupled receptor 52 (GPR52), mRNA.	84						integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TCAGACGATGGCATATGCTGA	0.423													A	174417499	G	A	174417499	3	1	4	1	0	0	0	0	1	0	0	0	6698	1203	42	2	252	2	GPR52	1	174417499	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1397544	174417499	74833122	280	2345											
GPR52	9293	broad.mit.edu	37	chr1	174417942	174417942	+	RNA	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacattttcaaaatttgccgTcagcacaccaaagagataaa	5	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:174417942T>A	uc010pmu.1	-	0		c.393A>T			RABGAP1L_uc001gjw.3_Intron|RABGAP1L_uc001gjx.3_Intron|RABGAP1L_uc001gjy.3_Intron|RABGAP1L_uc001gjz.3_Intron|GPR52_uc001gka.1_Silent_p.R231R			Q9Y2T5	GPR52_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022628 3' read GPR52 mRNA.							integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						AAATTTGCCGTCAGCACACCA	0.458													A	174417942	T	A	174417942	1	1	4	0	1	0	0	0	0	0	0	0	6698	1654	58	5		5	GPR52	1	174417942	RNA	SNP	T	TCGA-BR-4184-01A-01D-1126-08	443	174417942	74832679	281	2346											
MRPS14	63931	broad.mit.edu	37	chr1	174987651	174987651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttcgtctcttcacatcgCgccacattctccagtctaca	4	15	4	0	rs147012061		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:174987651C>T	uc001gkk.3	-	1	154	c.107G>A	c.(106-108)cGc>cAc	p.R36H	MRPS14_uc009wwr.3_Missense_Mutation_p.R21H	NM_022100	NP_071383	O60783	RT14_HUMAN	Homo sapiens mitochondrial ribosomal protein S14 (MRPS14), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	36					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	p.R36S(1)		large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						CTTCACATCGCGCCACATTCT	0.438													T	174987651	C	T	174987651	3	4	4	1	0	0	0	0	1	0	0	0	9824	768	27	1	287	1	MRPS14	1	174987651	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	569709	174987651	74262970	282	2347											
TNN	63923	broad.mit.edu	37	chr1	175046767	175046767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtgacgatggggcttcGctcttggccctgggggaggc	17	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:175046767G>A	uc001gkl.1	+	1	326	c.213G>A	c.(211-213)tcG>tcA	p.S71S	TNN_uc010pmx.1_Silent_p.S71S	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	71					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ATGGGGCTTCGCTCTTGGCCC	0.587													A	175046767	G	A	175046767	2	1	4	1	0	0	0	0	0	0	0	1	16320	1074	38	1		1	TNN	1	175046767	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	59116	175046767	74203854	283	2348											
ASTN1	460	broad.mit.edu	37	chr1	176833575	176833575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacttgagtgagctgcgccGcaagcttatcttgggttcct	12	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:176833575G>A	uc001glc.3	-	22	3942	c.3730C>T	c.(3730-3732)Cgg>Tgg	p.R1244W	ASTN1_uc001glb.1_Intron	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1252					cell migration|neuron cell-cell adhesion	integral to membrane		p.R1244W(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGCTGCGCCGCAAGCTTATC	0.567													A	176833575	G	A	176833575	3	1	4	1	0	0	0	0	1	0	0	0	1064	1086	38	1	158	1	ASTN1	1	176833575	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1786808	176833575	72417046	284	2349											
RALGPS2	55103	broad.mit.edu	37	chr1	178855202	178855202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcgtcatggagccccatgCgccatctcgaggccaagctg	12	14	2	0	rs149978883		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:178855202C>T	uc001glz.3	+	12	1477	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V	RALGPS2_uc010pnb.2_Missense_Mutation_p.A380V	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 2 (RALGPS2), mRNA.	380					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAGCCCCATGCGCCATCTCGA	0.393													T	178855202	C	T	178855202	3	4	4	1	0	0	0	0	1	0	0	0	13018	768	27	1	1185	1	RALGPS2	1	178855202	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2021627	178855202	70395419	285	2350											
ABL2	27	broad.mit.edu	37	chr1	179077318	179077318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccactgatgggcactgcGcccagagctgccttctttcc	9	16	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:179077318G>A	uc001gmj.4	-	11	3371	c.3084C>T	c.(3082-3084)ggC>ggT	p.G1028G	ABL2_uc010pnf.2_Silent_p.G925G|ABL2_uc010png.2_Silent_p.G904G|ABL2_uc010pnh.2_Silent_p.G1007G|ABL2_uc001gmg.4_Silent_p.G910G|ABL2_uc001gmi.4_Silent_p.G1013G|ABL2_uc010pne.2_Silent_p.G889G	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	1028	F-actin-binding (By similarity).|Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TGGGCACTGCGCCCAGAGCTG	0.567			T	ETV6	AML								A	179077318	G	A	179077318	2	1	4	1	0	0	0	0	0	0	0	1	93	1074	38	1		1	ABL2	1	179077318	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	222116	179077318	70173303	286	2351											
ABL2	27	broad.mit.edu	37	chr1	179078138	179078138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgtctttttgattaagCgtggtgtaaagaagcctgtg	12	6	1	2	rs147435995		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:179078138C>T	uc001gmj.4	-	11	2551	c.2264G>A	c.(2263-2265)cGc>cAc	p.R755H	ABL2_uc010pnf.2_Intron|ABL2_uc010png.2_Intron|ABL2_uc010pnh.2_Missense_Mutation_p.R734H|ABL2_uc001gmg.4_Intron|ABL2_uc001gmi.4_Missense_Mutation_p.R740H|ABL2_uc010pne.2_Intron	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	755	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTTGATTAAGCGTGGTGTAAA	0.532			T	ETV6	AML								T	179078138	C	T	179078138	3	4	4	1	0	0	0	0	1	0	0	0	93	768	27	1	1288	1	ABL2	1	179078138	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	820	179078138	70172483	287	2352											
TDRD5	163589	broad.mit.edu	37	chr1	179620046	179620046	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagttccagaagttgtgCggtttgaagccattagtggg	14	6	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:179620046C>T	uc010pnp.2	+	11	2363	c.1845C>T	c.(1843-1845)tgC>tgT	p.C615C	TDRD5_uc021pfm.1_Silent_p.C615C|TDRD5_uc001gnf.2_Silent_p.C615C|TDRD5_uc021pfn.1_Silent_p.C615C|TDRD5_uc001gnh.2_Silent_p.C170C	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	615					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AGAAGTTGTGCGGTTTGAAGC	0.368													T	179620046	C	T	179620046	2	4	4	1	0	0	0	0	0	0	0	1	15730	776	27	1		1	TDRD5	1	179620046	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	541908	179620046	69630575	288	2353											
CEP350	9857	broad.mit.edu	37	chr1	180010286	180010286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgaaggcacaacagcaacGccatgaaagagacttggccc	10	11	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:180010286G>A	uc001gnt.3	+	17	4507	c.4124G>A	c.(4123-4125)cGc>cAc	p.R1375H	CEP350_uc009wxl.2_Missense_Mutation_p.R1374H	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1375						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAACAGCAACGCCATGAAAGA	0.393													A	180010286	G	A	180010286	3	1	4	1	0	0	0	0	1	0	0	0	3254	1087	38	1	4190	1	CEP350	1	180010286	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	390240	180010286	69240335	289	2354											
XPR1	9213	broad.mit.edu	37	chr1	180780557	180780557	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccacagcctgcaccagcatgGactacttttagagttggcct	9	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:180780557G>T	uc001goi.3	+	6	888	c.696G>T	c.(694-696)tgG>tgT	p.W232C	XPR1_uc009wxm.2_Missense_Mutation_p.W232C|XPR1_uc009wxn.3_Missense_Mutation_p.W232C	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	232						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CACCAGCATGGACTACTTTTA	0.328													T	180780557	G	T	180780557	3	4	4	1	0	0	0	0	1	0	0	0	17448	1183	41	5	722	5	XPR1	1	180780557	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	770271	180780557	68470064	290	2355											
XPR1	9213	broad.mit.edu	37	chr1	180849411	180849411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaccagagcatatccctgCgccggcctcgcctcgcttct	8	18	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:180849411C>T	uc001goi.3	+	13	2200	c.2008C>T	c.(2008-2010)Cgc>Tgc	p.R670C	XPR1_uc009wxn.3_Missense_Mutation_p.R605C	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	670						integral to plasma membrane	G-protein coupled receptor activity	p.R670H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CATATCCCTGCGCCGGCCTCG	0.473													T	180849411	C	T	180849411	3	4	4	1	0	0	0	0	1	0	0	0	17448	768	27	1	2062	1	XPR1	1	180849411	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	68854	180849411	68401210	291	2356											
STX6	10228	broad.mit.edu	37	chr1	180974435	180974435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagaaaaggatattgatgGtttcatcaaggtcctctaga	9	7	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:180974435G>A	uc021pfr.1	-	1	437	c.200C>T	c.(199-201)aCc>aTc	p.T67I	STX6_uc010pnr.2_Intron	NM_005819	NP_005810	O43752	STX6_HUMAN	Homo sapiens syntaxin 6 (STX6), mRNA.	67					Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						GATATTGATGGTTTCATCAAG	0.438													A	180974435	G	A	180974435	3	1	4	1	0	0	0	0	1	0	0	0	15348	1261	44	4	595	4	STX6	1	180974435	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	125024	180974435	68276186	292	2357											
CACNA1E	777	broad.mit.edu	37	chr1	181706782	181706782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcctgaccaactcggagCgcaacaaagtgggtacacag	11	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:181706782C>T	uc009wxt.3	+	22	3739	c.3544C>T	c.(3544-3546)Cgc>Tgc	p.R1182C	CACNA1E_uc001gow.3_Missense_Mutation_p.R1182C|CACNA1E_uc009wxs.3_Missense_Mutation_p.R1163C|CACNA1E_uc001gox.1_Missense_Mutation_p.R408C	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1182					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.E1181Q(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAACTCGGAGCGCAACAAAGT	0.597													T	181706782	C	T	181706782	3	4	4	1	0	0	0	0	1	0	0	0	2542	768	27	1	3634	1	CACNA1E	1	181706782	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	732347	181706782	67543839	293	2358											
CACNA1E	777	broad.mit.edu	37	chr1	181732597	181732597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagctcttccgagctgcccGcctcataaagctcctgcgtc	9	16	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:181732597G>A	uc009wxt.3	+	33	4940	c.4745G>A	c.(4744-4746)cGc>cAc	p.R1582H	CACNA1E_uc001gow.3_Missense_Mutation_p.R1582H|CACNA1E_uc009wxs.3_Missense_Mutation_p.R1563H|CACNA1E_uc001gox.1_Missense_Mutation_p.R808H	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1582					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGAGCTGCCCGCCTCATAAAG	0.473													A	181732597	G	A	181732597	3	1	4	1	0	0	0	0	1	0	0	0	2542	1087	38	1	4879	1	CACNA1E	1	181732597	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	25815	181732597	67518024	294	2359											
RNASEL	6041	broad.mit.edu	37	chr1	182550411	182550411	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcagaaggcccaggttgCagtagtctgaggatctcact	12	9	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:182550411C>T	uc009wxz.2	-	4	2111	c.1854G>A	c.(1852-1854)ctG>ctA	p.L618L	RNASEL_uc001gpk.3_Silent_p.L618L	NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	618	KEN.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GCCCAGGTTGCAGTAGTCTGA	0.423													T	182550411	C	T	182550411	2	4	4	1	0	0	0	0	0	0	0	1	13416	697	25	2		2	RNASEL	1	182550411	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	817814	182550411	66700210	295	2360											
LAMC1	3915	broad.mit.edu	37	chr1	183105532	183105532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtttcagattttgataggCgtgtgaacgataacaagacg	11	5	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:183105532C>T	uc001gpy.4	+	24	4383	c.4126C>T	c.(4126-4128)Cgt>Tgt	p.R1376C		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	1376	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTTGATAGGCGTGTGAACGA	0.453													T	183105532	C	T	183105532	3	4	4	1	0	0	0	0	1	0	0	0	8614	768	27	1	4224	1	LAMC1	1	183105532	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	555121	183105532	66145089	296	2361											
EDEM3	80267	broad.mit.edu	37	chr1	184671996	184671996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctacctcctcatattcccGgatggcatccagtatgatac	6	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:184671996G>A	uc010pom.2	-	18	2599	c.2338C>T	c.(2338-2340)Cgg>Tgg	p.R780W	EDEM3_uc010pok.2_Missense_Mutation_p.R780W|EDEM3_uc010pol.2_Non-coding_Transcript	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	780					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCATATTCCCGGATGGCATCC	0.393													A	184671996	G	A	184671996	3	1	4	1	0	0	0	0	1	0	0	0	4913	1115	39	1	468	1	EDEM3	1	184671996	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1566464	184671996	64578625	297	2362											
EDEM3	80267	broad.mit.edu	37	chr1	184692925	184692925	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatgaatatttatagtcacGcccactaaattactacttcg	5	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:184692925G>A	uc010pom.2	-	7	1074	c.813C>T	c.(811-813)ggC>ggT	p.G271G	EDEM3_uc010pok.2_Silent_p.G271G|EDEM3_uc010pol.2_Non-coding_Transcript|EDEM3_uc001gqy.3_Silent_p.G194G	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	271					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTATAGTCACGCCCACTAAAT	0.323													A	184692925	G	A	184692925	2	1	4	1	0	0	0	0	0	0	0	1	4913	1074	38	1		1	EDEM3	1	184692925	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	20929	184692925	64557696	298	2363											
FAM129A	116496	broad.mit.edu	37	chr1	184764913	184764913	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggattcaccacggggTcatccactcttgaaataatc	7	13	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:184764913T>C	uc001gra.3	-	13	2179	c.1985A>G	c.(1984-1986)gAc>gGc	p.D662G	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	662					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CACCACGGGGTCATCCACTCT	0.572													C	184764913	T	C	184764913	3	2	4	1	0	0	0	0	1	0	0	0	5436	1667	58	3	805	3	FAM129A	1	184764913	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	71988	184764913	64485708	299	2364											
FAM129A	116496	broad.mit.edu	37	chr1	184777283	184777283	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcggctcttgagatcctgCaggcgctcgtgaagcaggtt	14	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:184777283C>T	uc001gra.3	-	9	1454	c.1260G>A	c.(1258-1260)ctG>ctA	p.L420L	FAM129A_uc001grb.1_Silent_p.L183L|FAM129A_uc009wyh.1_Silent_p.L248L|FAM129A_uc009wyi.1_Silent_p.L218L	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	420					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGAGATCCTGCAGGCGCTCGT	0.522													T	184777283	C	T	184777283	2	4	4	1	0	0	0	0	0	0	0	1	5436	697	25	2		2	FAM129A	1	184777283	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	12370	184777283	64473338	300	2365											
HMCN1	83872	broad.mit.edu	37	chr1	185985117	185985117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgattgaaggcaacttggCcacgcctttgaataagcaag	10	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:185985117C>T	uc001grq.1	+	31	5166	c.4937C>T	c.(4936-4938)gCc>gTc	p.A1646V		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1646	Ig-like C2-type 14.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGCAACTTGGCCACGCCTTTG	0.403													T	185985117	C	T	185985117	3	4	4	1	0	0	0	0	1	0	0	0	7220	739	26	2	5063	2	HMCN1	1	185985117	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1207834	185985117	63265504	301	2366											
HMCN1	83872	broad.mit.edu	37	chr1	186147696	186147696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaggctgccaaattatggCactcaatacagtagctataa	9	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:186147696C>T	uc001grq.1	+	103	16321	c.16092C>T	c.(16090-16092)ggC>ggT	p.G5364G	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	5364					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAAATTATGGCACTCAATACA	0.483													T	186147696	C	T	186147696	2	4	4	1	0	0	0	0	0	0	0	1	7220	697	25	2		2	HMCN1	1	186147696	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	162579	186147696	63102925	302	2367											
HMCN1	83872	broad.mit.edu	37	chr1	186147722	186147722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacagtagctataaccttgCacggttctcccctgtgagaa	8	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:186147722C>T	uc001grq.1	+	103	16347	c.16118C>T	c.(16117-16119)gCa>gTa	p.A5373V	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	5373					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TATAACCTTGCACGGTTCTCC	0.453													T	186147722	C	T	186147722	3	4	4	1	0	0	0	0	1	0	0	0	7220	710	25	2	16532	2	HMCN1	1	186147722	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	26	186147722	63102899	303	2368											
HMCN1	83872	broad.mit.edu	37	chr1	186158685	186158685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaatgatttggaatgtgCcttgagcccatatgccttgg	10	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:186158685C>T	uc001grq.1	+	106	16812	c.16583C>T	c.(16582-16584)gCc>gTc	p.A5528V	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.A980V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	5528					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGGAATGTGCCTTGAGCCCA	0.443													T	186158685	C	T	186158685	3	4	4	1	0	0	0	0	1	0	0	0	7220	739	26	2	17009	2	HMCN1	1	186158685	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	10963	186158685	63091936	304	2369											
HMCN1	83872	broad.mit.edu	37	chr1	186158913	186158913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagaagcagagacctaccGcatgagggtccgagcctcat	12	12	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:186158913G>A	uc001grq.1	+	106	17040	c.16811G>A	c.(16810-16812)cGc>cAc	p.R5604H	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.R1056H	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	5604					response to stimulus|visual perception	basement membrane	calcium ion binding	p.R5604H(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGACCTACCGCATGAGGGTC	0.468													A	186158913	G	A	186158913	3	1	4	1	0	0	0	0	1	0	0	0	7220	1087	38	1	17237	1	HMCN1	1	186158913	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	228	186158913	63091708	305	2370											
TPR	7175	broad.mit.edu	37	chr1	186312540	186312540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcaaccctttgtcgataaCgcagactctcaacctgagcc	7	14	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:186312540C>T	uc001grv.3	-	26	3965	c.3668G>A	c.(3667-3669)cGt>cAt	p.R1223H	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	1223					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTGTCGATAACGCAGACTCTC	0.368			T	NTRK1	papillary thyroid								T	186312540	C	T	186312540	3	4	4	1	0	0	0	0	1	0	0	0	16413	536	19	1	3523	1	TPR	1	186312540	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	153627	186312540	62938081	306	2371											
PTGS2	5743	broad.mit.edu	37	chr1	186647441	186647441	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcaggcacaggaggaagggCtctagtataataggagaggt	15	5	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:186647441C>A	uc001gsb.3	-	3	546	c.409G>T	c.(409-411)Gcc>Tcc	p.A137S	PTGS2_uc009wyo.3_Missense_Mutation_p.E20D	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	137					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	GGAGGAAGGGCTCTAGTATAA	0.448													A	186647441	C	A	186647441	3	1	4	1	0	0	0	0	1	0	0	0	12756	797	28	5	1433	5	PTGS2	1	186647441	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	334901	186647441	62603180	307	2372											
FAM5C	339479	broad.mit.edu	37	chr1	190067862	190067862	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaggagcatccgcttacgCcaggagggatcaaaccagct	13	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:190067862C>T	uc001gse.1	-	7	1819	c.1587G>A	c.(1585-1587)tgG>tgA	p.W529*	FAM5C_uc010pot.1_Nonsense_Mutation_p.W427*	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	529						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TCCGCTTACGCCAGGAGGGAT	0.423													T	190067862	C	T	190067862	4	4	4	1	0	0	0	0	0	1	0	0	5594	740	26	2	717	2	FAM5C	1	190067862	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3420421	190067862	59182759	308	2373											
B3GALT2	8707	broad.mit.edu	37	chr1	193149563	193149563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgagaggtaattaggtggCtgtatttacagctcgaataa	12	4	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:193149563C>T	uc021pgr.1	-	0	1130	c.1130G>A	c.(1129-1131)aGc>aAc	p.S377N	CDC73_uc001gtb.3_Intron|B3GALT2_uc001gtc.4_Missense_Mutation_p.S377N	NM_003783	NP_003774	O43825	B3GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 (B3GALT2), mRNA.	377					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						AATTAGGTGGCTGTATTTACA	0.433													T	193149563	C	T	193149563	3	4	4	1	0	0	0	0	1	0	0	0	1248	797	28	2	142	2	B3GALT2	1	193149563	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3081701	193149563	56101058	309	2374											
CFHR1	3078	broad.mit.edu	37	chr1	196801062	196801062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatatcgtctttcatcacGttctcacacattgcgaacaa	7	11	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:196801062G>A	uc001gtn.3	+	5	1040	c.926G>A	c.(925-927)cGt>cAt	p.R309H	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Missense_Mutation_p.R213H	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	309	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						CTTTCATCACGTTCTCACACA	0.383													A	196801062	G	A	196801062	3	1	4	1	0	0	0	0	1	0	0	0	3284	1145	40	1	948	1	CFHR1	1	196801062	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3651499	196801062	52449559	310	2375											
CRB1	23418	broad.mit.edu	37	chr1	197390881	197390881	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccacaccttcgtttgtaggCtgtctccaagacattaaaat	6	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:197390881C>A	uc001gtz.3	+	5	2132	c.1923C>A	c.(1921-1923)ggC>ggA	p.G641G	CRB1_uc010poz.2_Silent_p.G572G|CRB1_uc009wza.3_Silent_p.G529G|CRB1_uc010ppa.2_Splice_Site|CRB1_uc010ppb.2_Silent_p.G641G|CRB1_uc010ppc.1_Splice_Site|CRB1_uc010ppd.2_Silent_p.G122G|CRB1_uc001gub.1_Silent_p.G290G	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	641	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CGTTTGTAGGCTGTCTCCAAG	0.428													A	197390881	C	A	197390881	2	1	4	1	0	0	0	0	0	0	0	1	3848	784	28	5		5	CRB1	1	197390881	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	589819	197390881	51859740	311	2376											
LHX9	56956	broad.mit.edu	37	chr1	197889133	197889133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagcccggagaagcccgCcctgtgcgccggctgcgggg	17	16	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:197889133C>T	uc001guk.1	+	1	643	c.206C>T	c.(205-207)gCc>gTc	p.A69V	LHX9_uc001gui.1_Missense_Mutation_p.A60V	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	69	LIM zinc-binding 1.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GAGAAGCCCGCCCTGTGCGCC	0.642													T	197889133	C	T	197889133	3	4	4	1	0	0	0	0	1	0	0	0	8777	739	26	2	244	2	LHX9	1	197889133	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	498252	197889133	51361488	312	2377											
PTPRC	5788	broad.mit.edu	37	chr1	198685904	198685904	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttttatcattacatgcctAcatcattgcaaaagtgcaac	5	9	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:198685904A>C	uc001gur.1	+	12	1559	c.1379A>C	c.(1378-1380)tAc>tCc	p.Y460S	PTPRC_uc001gut.1_Missense_Mutation_p.Y299S|PTPRC_uc009wzf.1_Missense_Mutation_p.Y348S|PTPRC_uc021pgy.1_Missense_Mutation_p.Y414S|PTPRC_uc010ppg.1_Missense_Mutation_p.Y396S	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	460	Fibronectin type-III 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTACATGCCTACATCATTGCA	0.313													C	198685904	A	C	198685904	3	2	4	1	0	0	0	0	1	0	0	0	12797	391	14	5	1436	5	PTPRC	1	198685904	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	796771	198685904	50564717	313	2378											
PTPRC	5788	broad.mit.edu	37	chr1	198687371	198687371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctggttagaaatgagtcGcataagaattgcgatttccg	10	7	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:198687371G>A	uc001gur.1	+	13	1773	c.1593G>A	c.(1591-1593)tcG>tcA	p.S531S	PTPRC_uc001gut.1_Silent_p.S370S|PTPRC_uc009wzf.1_Silent_p.S419S|PTPRC_uc021pgy.1_Silent_p.S485S|PTPRC_uc010ppg.1_Silent_p.S467S	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	531	Fibronectin type-III 2.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAAATGAGTCGCATAAGAATT	0.403													A	198687371	G	A	198687371	2	1	4	1	0	0	0	0	0	0	0	1	12797	1074	38	1		1	PTPRC	1	198687371	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1467	198687371	50563250	314	2379											
PTPRC	5788	broad.mit.edu	37	chr1	198703517	198703517	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgggaacagaaagccacagTtattgtcatggtcactcgat	10	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:198703517T>C	uc001gur.1	+	21	2414	c.2234T>C	c.(2233-2235)gTt>gCt	p.V745A	PTPRC_uc001gut.1_Missense_Mutation_p.V584A|PTPRC_uc021pgy.1_Missense_Mutation_p.V699A|PTPRC_uc010ppg.1_Missense_Mutation_p.V681A	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	745	Tyrosine-protein phosphatase 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAAGCCACAGTTATTGTCATG	0.408													C	198703517	T	C	198703517	3	2	4	1	0	0	0	0	1	0	0	0	12797	1725	60	3	2327	3	PTPRC	1	198703517	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	16146	198703517	50547104	315	2380											
DDX59	83479	broad.mit.edu	37	chr1	200635844	200635844	+	Frame_Shift_Del	DEL	T	T	-													atcattagcattcctcttgaTttttagagatcttggaacaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:200635843_200635843AT>A	uc009wzk.3	-	1	269	c.26_26AT>T	c.(25-27)atcfs	p.I9fs	DDX59_uc010ppl.1_Frame_Shift_Del_p.I9fs	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (DDX59), mRNA.	9						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ATTCCTCTTGATTTTTAGAGA	0.333													-	200635844	T	-	200635844	7	5	4	1	0	1	0	1	0	0	0	0	4376	1493	52	0	1862	0	DDX59	1	200635844	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	1932327	200635844	48614777	316	2381											
CACNA1S	779	broad.mit.edu	37	chr1	201022696	201022696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagaaggcgctggagatgCgggcactctcatctgggtcc	16	10	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:201022696C>T	uc001gvv.3	-	29	3913	c.3686G>A	c.(3685-3687)cGc>cAc	p.R1229H		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1229					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.R1229H(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCTGGAGATGCGGGCACTCTC	0.642													T	201022696	C	T	201022696	3	4	4	1	0	0	0	0	1	0	0	0	2547	768	27	1	1995	1	CACNA1S	1	201022696	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	386852	201022696	48227925	317	2382											
PKP1	5317	broad.mit.edu	37	chr1	201252935	201252935	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaagatgaaaacaggcacGtctggcaggcagcgcgtgca	13	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:201252935G>A	uc001gwd.3	+	0	356	c.105G>A	c.(103-105)acG>acA	p.T35T	PKP1_uc001gwe.3_Silent_p.T35T|PKP1_uc009wzm.3_5'UTR	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	35					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						AAACAGGCACGTCTGGCAGGC	0.587													A	201252935	G	A	201252935	2	1	4	1	0	0	0	0	0	0	0	1	11984	1132	40	1		1	PKP1	1	201252935	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	230239	201252935	47997686	318	2383											
CSRP1	1465	broad.mit.edu	37	chr1	201454427	201454427	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctttgcagtaaatctcGccatccttgtctgccagggt	8	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:201454427G>A	uc021phg.1	-	4	642	c.489C>T	c.(487-489)ggC>ggT	p.G163G	CSRP1_uc001gwr.2_Non-coding_Transcript|CSRP1_uc021phh.1_Silent_p.G163G|CSRP1_uc001gws.3_Silent_p.G163G|CSRP1_uc010ppr.2_Silent_p.G157G	NM_001193572	NP_004069	P21291	CSRP1_HUMAN	Homo sapiens cysteine and glycine-rich protein 1 (CSRP1), transcript variant 5, mRNA.	163	LIM zinc-binding 2.					nucleus	zinc ion binding			large_intestine(3)|lung(2)|ovary(1)	6						AGTAAATCTCGCCATCCTTGT	0.507													A	201454427	G	A	201454427	2	1	4	1	0	0	0	0	0	0	0	1	3966	1074	38	1		1	CSRP1	1	201454427	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	201492	201454427	47796194	319	2384											
NAV1	89796	broad.mit.edu	37	chr1	201751650	201751650	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgttctaacatccagtaCcgcagcctgccccggccagc	9	19	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:201751650C>T	uc021phi.1	+	5	2357	c.2010C>T	c.(2008-2010)taC>taT	p.Y670Y	NAV1_uc001gwu.3_Silent_p.Y670Y|NAV1_uc001gwv.1_Silent_p.Y178Y|NAV1_uc001gww.2_Silent_p.Y279Y|NAV1_uc001gwx.3_Silent_p.Y279Y|NAV1_uc001gwy.1_Silent_p.Y51Y	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	670					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						ACATCCAGTACCGCAGCCTGC	0.597													T	201751650	C	T	201751650	2	4	4	1	0	0	0	0	0	0	0	1	10183	518	18	4		4	NAV1	1	201751650	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	297223	201751650	47498971	320	2385											
NAV1	89796	broad.mit.edu	37	chr1	201763655	201763655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaaaaagaactctgaggCccaggcagtcattcagggag	13	8	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:201763655C>T	uc021phi.1	+	14	3814	c.3467C>T	c.(3466-3468)gCc>gTc	p.A1156V	NAV1_uc001gwu.3_Missense_Mutation_p.A1156V|NAV1_uc001gwv.1_Missense_Mutation_p.A681V|NAV1_uc001gww.2_Missense_Mutation_p.A757V|NAV1_uc001gwx.3_Missense_Mutation_p.A765V|NAV1_uc001gwy.1_Missense_Mutation_p.A529V	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1156					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AACTCTGAGGCCCAGGCAGTC	0.498													T	201763655	C	T	201763655	3	4	4	1	0	0	0	0	1	0	0	0	10183	739	26	2	3582	2	NAV1	1	201763655	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	12005	201763655	47486966	321	2386											
LGR6	59352	broad.mit.edu	37	chr1	202270002	202270002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccataacaacaacatcaagGccatcccagaaaaggccttc	5	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:202270002G>A	uc001gxu.3	+	7	811	c.811G>A	c.(811-813)Gcc>Acc	p.A271T	LGR6_uc001gxv.3_Missense_Mutation_p.A219T|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.A132T|LGR6_uc009xac.1_Non-coding_Transcript	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	271						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CAACATCAAGGCCATCCCAGA	0.502													A	202270002	G	A	202270002	3	1	4	1	0	0	0	0	1	0	0	0	8758	1203	42	2	988	2	LGR6	1	202270002	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	506347	202270002	46980619	322	2387											
PPP1R12B	4660	broad.mit.edu	37	chr1	202418206	202418206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgtgtgatcaccaatcGccctcttcctagcactgcca	7	16	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:202418206G>A	uc001gya.2	+	12	1907	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H		NM_002481	NP_002472	O60237	MYPT2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12B (PPP1R12B), transcript variant 1, mRNA.	586					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	p.R586H(2)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			ATCACCAATCGCCCTCTTCCT	0.502													A	202418206	G	A	202418206	3	1	4	1	0	0	0	0	1	0	0	0	12355	1087	38	1	1897	1	PPP1R12B	1	202418206	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	148204	202418206	46832415	323	2388											
SYT2	127833	broad.mit.edu	37	chr1	202573729	202573729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagcaaccacagcaatggCgatcagtgcccagggtggta	12	13	1	0	rs147177966		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:202573729C>T	uc001gye.3	-	2	392	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	SYT2_uc010pqb.2_Missense_Mutation_p.A67T|SYT2_uc009xaf.3_Intron	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	67					neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	ACAGCAATGGCGATCAGTGCC	0.552													T	202573729	C	T	202573729	3	4	4	1	0	0	0	0	1	0	0	0	15471	768	27	1	1088	1	SYT2	1	202573729	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	155523	202573729	46676892	324	2389											
KDM5B	10765	broad.mit.edu	37	chr1	202704712	202704712	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatcacatcgaggacacaGcacctaatgtgggacaaggc	10	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:202704712G>A	uc009xag.3	-	22	3492	c.3376C>T	c.(3376-3378)Ctg>Ttg	p.L1126L	KDM5B_uc001gyf.3_Silent_p.L1090L|KDM5B_uc001gyg.1_Silent_p.L932L	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1090					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CGAGGACACAGCACCTAATGT	0.383													A	202704712	G	A	202704712	2	1	4	1	0	0	0	0	0	0	0	1	8134	962	34	2		2	KDM5B	1	202704712	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	130983	202704712	46545909	325	2390											
KDM5B	10765	broad.mit.edu	37	chr1	202746175	202746175	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtctctggatacgtggCgtaaaatgaagtttatcaac	9	7	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:202746175C>T	uc009xag.3	-	1	368	c.252G>A	c.(250-252)acG>acA	p.T84T	KDM5B_uc001gyf.3_Silent_p.T84T|KDM5B_uc001gyg.1_5'UTR	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	84					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GGATACGTGGCGTAAAATGAA	0.378													T	202746175	C	T	202746175	2	4	4	1	0	0	0	0	0	0	0	1	8134	755	27	1		1	KDM5B	1	202746175	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	41463	202746175	46504446	326	2391											
KLHL12	59349	broad.mit.edu	37	chr1	202863757	202863757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggccactacgagtccgGcaccttcccgggctgtctgc	11	17	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:202863757G>A	uc001gyo.1	-	8	1456	c.1256C>T	c.(1255-1257)gCc>gTc	p.A419V	KLHL12_uc001gym.1_Missense_Mutation_p.A152V|KLHL12_uc001gyn.1_Missense_Mutation_p.A269V|KLHL12_uc010pqc.1_Missense_Mutation_p.A457V|KLHL12_uc009xah.1_Missense_Mutation_p.A318V	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	Homo sapiens kelch-like 12 (Drosophila) (KLHL12), mRNA.	419	Interaction with DVL3.				Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TACGAGTCCGGCACCTTCCCG	0.542													A	202863757	G	A	202863757	3	1	4	1	0	0	0	0	1	0	0	0	8368	1203	42	2	466	2	KLHL12	1	202863757	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	117582	202863757	46386864	327	2392											
ADIPOR1	51094	broad.mit.edu	37	chr1	202920110	202920110	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcttctagcaggggtcccAgttcagccagttccaccgtg	10	14	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:202920110A>G	uc001gyq.4	-	1	356	c.89T>C	c.(88-90)cTg>cCg	p.L30P	ADIPOR1_uc010pqd.2_5'Flank|ADIPOR1_uc001gyr.4_5'UTR|ADIPOR1_uc001gys.4_Missense_Mutation_p.L30P	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	Homo sapiens adiponectin receptor 1 (ADIPOR1), transcript variant 1, mRNA.	30					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			CAGGGGTCCCAGTTCAGCCAG	0.547													G	202920110	A	G	202920110	3	3	4	1	0	0	0	0	1	0	0	0	318	188	7	3	1066	3	ADIPOR1	1	202920110	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	56353	202920110	46330511	328	2393											
PLEKHA6	22874	broad.mit.edu	37	chr1	204226501	204226501	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgggggagctgatggatcGcctcatcacataggcagcag	14	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:204226501G>A	uc001hau.3	-	8	1821	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*	PLEKHA6_uc009xaw.1_Nonsense_Mutation_p.R126*|PLEKHA6_uc009xax.1_Nonsense_Mutation_p.R126*|PLEKHA6_uc009xay.1_Nonsense_Mutation_p.R126*|PLEKHA6_uc009xaz.1_Nonsense_Mutation_p.R126*|PLEKHA6_uc009xba.1_Nonsense_Mutation_p.R126*|PLEKHA6_uc009xbb.1_Nonsense_Mutation_p.R126*|PLEKHA6_uc009xbc.1_Nonsense_Mutation_p.R126*	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	502										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CTGATGGATCGCCTCATCACA	0.592													A	204226501	G	A	204226501	4	1	4	1	0	0	0	0	0	1	0	0	12060	1095	38	1	1698	1	PLEKHA6	1	204226501	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1306391	204226501	45024120	329	2394											
SLC45A3	85414	broad.mit.edu	37	chr1	205632060	205632060	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtaaaacagcgtgaaggTcatgagtgccatccagctgc	12	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:205632060T>C	uc001hda.1	-	2	1198	c.859A>G	c.(859-861)Acc>Gcc	p.T287A	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_Missense_Mutation_p.T121A|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	287					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGCGTGAAGGTCATGAGTGCC	0.667			T	"ETV1, ETV5, ELK4, ERG"	prostate								C	205632060	T	C	205632060	3	2	4	1	0	0	0	0	1	0	0	0	14642	1667	58	3	814	3	SLC45A3	1	205632060	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1405559	205632060	43618561	330	2395											
PM20D1	148811	broad.mit.edu	37	chr1	205814498	205814498	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccccgaccatagatgatGccatcacgctccaacccaga	8	16	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:205814498G>A	uc001hdj.3	-	2	520	c.444C>T	c.(442-444)ggC>ggT	p.G148G	PM20D1_uc009xbr.3_Non-coding_Transcript	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	148						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CATAGATGATGCCATCACGCT	0.567													A	205814498	G	A	205814498	2	1	4	1	0	0	0	0	0	0	0	1	12128	1306	46	2		2	PM20D1	1	205814498	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	182438	205814498	43436123	331	2396											
SRGAP2	23380	broad.mit.edu	37	chr1	206626563	206626563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaatgtgagcccatcgagGccattgccaagtttgactac	10	11	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:206626563G>A	uc001hdy.3	+	16	1937	c.1936G>A	c.(1936-1938)Gcc>Acc	p.A646T	SRGAP2_uc010prt.1_Missense_Mutation_p.A569T|SRGAP2_uc001hdx.3_Missense_Mutation_p.A646T|SRGAP2_uc010pru.2_Missense_Mutation_p.A645T|SRGAP2_uc010prv.1_Missense_Mutation_p.A570T	NM_015326	NP_056141	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 1, mRNA.	733	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GCCCATCGAGGCCATTGCCAA	0.532													A	206626563	G	A	206626563	3	1	4	1	0	0	0	0	1	0	0	0	15145	1203	42	2	2003	2	SRGAP2	1	206626563	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	812065	206626563	42624058	332	2397											
FAIM3	9214	broad.mit.edu	37	chr1	207087292	207087292	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaagttggtggtggatAccacggtaccacatgttcca	12	8	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:207087292A>G	uc001hey.3	-	1	364	c.185T>C	c.(184-186)gTa>gCa	p.V62A	FAIM3_uc010prz.2_Intron|FAIM3_uc021pif.1_Missense_Mutation_p.V62A|FAIM3_uc010psa.2_Silent_p.G5G	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 3 (FAIM3), transcript variant 1, mRNA.	62	Ig-like.				anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GGTGGTGGATACCACGGTACC	0.502													G	207087292	A	G	207087292	3	3	4	1	0	0	0	0	1	0	0	0	5377	391	14	3	1015	3	FAIM3	1	207087292	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	460729	207087292	42163329	333	2398											
CD34	947	broad.mit.edu	37	chr1	208061099	208061099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagtcacaattcggtatcaGccaccacgtgttgtcttgct	9	12	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:208061099G>A	uc001hgw.1	-	7	1400	c.1142C>T	c.(1141-1143)gCt>gTt	p.A381V	CD34_uc001hgv.1_Missense_Mutation_p.A223V|CD34_uc001hgx.1_3'UTR|CD34_uc010psj.1_Missense_Mutation_p.A246V	NM_001025109	NP_001020280	P28906	CD34_HUMAN	Homo sapiens CD34 molecule (CD34), transcript variant 1, mRNA.	381					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						TTCGGTATCAGCCACCACGTG	0.617													A	208061099	G	A	208061099	3	1	4	1	0	0	0	0	1	0	0	0	3006	971	34	2	19	2	CD34	1	208061099	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	973807	208061099	41189522	334	2399											
PLXNA2	5362	broad.mit.edu	37	chr1	208212226	208212226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcacattcttatacacgGcatcaagaatcttctccttg	7	11	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:208212226G>A	uc001hgz.3	-	24	5362	c.4604C>T	c.(4603-4605)gCc>gTc	p.A1535V		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1535					axon guidance	integral to membrane|intracellular|plasma membrane		p.A1535V(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTTATACACGGCATCAAGAAT	0.527													A	208212226	G	A	208212226	3	1	4	1	0	0	0	0	1	0	0	0	12120	1203	42	2	1112	2	PLXNA2	1	208212226	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	151127	208212226	41038395	335	2400											
HHAT	55733	broad.mit.edu	37	chr1	210591562	210591562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggccctggggctgggccGccttctttgctggtggtggc	17	13	1	0	rs148639278	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:210591562G>A	uc010psr.2	+	5	857	c.752G>A	c.(751-753)cGc>cAc	p.R251H	HHAT_uc009xcx.3_Missense_Mutation_p.R250H|HHAT_uc010psq.2_Missense_Mutation_p.R113H|HHAT_uc009xcy.3_Missense_Mutation_p.R185H|HHAT_uc010pss.2_Missense_Mutation_p.R205H|HHAT_uc010pst.2_Missense_Mutation_p.R187H|HHAT_uc001hhz.4_Missense_Mutation_p.R250H|HHAT_uc021pip.1_Missense_Mutation_p.R250H|HHAT_uc010psu.2_Missense_Mutation_p.R185H	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	250					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GGGCTGGGCCGCCTTCTTTGC	0.582													A	210591562	G	A	210591562	3	1	4	1	0	0	0	0	1	0	0	0	7089	1087	38	1	869	1	HHAT	1	210591562	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2379336	210591562	38659059	336	2401											
KCNH1	3756	broad.mit.edu	37	chr1	210971031	210971031	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagccggaaggccgggtgCtccttgaacaccttgcggtt	14	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:210971031C>A	uc001hib.2	-	8	1904	c.1734G>T	c.(1732-1734)gaG>gaT	p.E578D	KCNH1_uc001hic.2_Missense_Mutation_p.E551D	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	578					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGGCCGGGTGCTCCTTGAACA	0.602													A	210971031	C	A	210971031	3	1	4	1	0	0	0	0	1	0	0	0	8031	796	28	5	1247	5	KCNH1	1	210971031	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	379469	210971031	38279590	337	2402											
KCNH1	3756	broad.mit.edu	37	chr1	211192537	211192538	+	Frame_Shift_Ins	INS	-	-	G													ataatgtaagatgatgtgagINSggggagtctttggtgcctct							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:211192536_211192537A>AG	uc001hib.2	-	5	790_791	c.620_621T>CT	c.(619-621)cctfs	p.P207fs	KCNH1_uc001hic.2_Frame_Shift_Ins_p.P207fs	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	207					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGATGATGTGAGGGGGAGTCTT	0.446													G	211192538	-	G	211192537	7	5	4	1	0	1	1	0	0	0	0	0	8031	1000	35	0	2373	0	KCNH1	1	211192537	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	221506	211192537	38058084	338	2403											
RCOR3	55758	broad.mit.edu	37	chr1	211451507	211451507	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaatattactattcttggAaaaaaactcgctctaggaca	5	7	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:211451507A>G	uc010psw.2	+	5	760	c.565A>G	c.(565-567)Aaa>Gaa	p.K189E	RCOR3_uc010psv.1_Non-coding_Transcript|RCOR3_uc001hie.3_Missense_Mutation_p.K189E|RCOR3_uc001hif.3_Missense_Mutation_p.K189E|RCOR3_uc001hig.3_Missense_Mutation_p.K131E	NM_001136223	NP_060724	Q9P2K3	RCOR3_HUMAN	Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA.	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.T133fs*4(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		CTATTCTTGGAAAAAAACTCG	0.338													G	211451507	A	G	211451507	3	3	4	1	0	0	0	0	1	0	0	0	13184	247	9	3	587	3	RCOR3	1	211451507	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	258970	211451507	37799114	339	2404											
NEK2	4751	broad.mit.edu	37	chr1	211842455	211842455	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacccccattcagacttacGctccaatctttcttctcttg	4	15	4	2	rs140995957		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:211842455G>A	uc001hir.2	-	6	1136	c.985_splice	c.e6+1	p.Q329_splice	NEK2_uc021piq.1_Splice_Site_p.Q329_splice|NEK2_uc021pir.1_Splice_Site_p.Q79_splice|NEK2_uc001his.4_Splice_Site_p.Q329_splice|NEK2_uc001hit.2_Splice_Site	NM_002497	NP_002488	P51955	NEK2_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 2 (NEK2), transcript variant 1, mRNA.	329	Interaction with PCNT.|Leucine-zipper.|Necessary for interaction with MAD1L1.				G2/M transition of mitotic cell cycle|cell division|centrosome separation|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TCAGACTTACGCTCCAATCTT	0.423													A	211842455	G	A	211842455	5	1	4	1	0	0	0	0	0	0	1	0	10324	1101	38	1	364	1	NEK2	1	211842455	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	390948	211842455	37408166	340	2405											
DTL	51514	broad.mit.edu	37	chr1	212273912	212273912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaccaagatcatgtctcCgagaaaagcccttattcctg	9	11	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:212273912C>T	uc009xdc.3	+	13	1894	c.1580C>T	c.(1579-1581)cCg>cTg	p.P527L	DTL_uc010ptb.2_Missense_Mutation_p.P485L|DTL_uc001hiz.4_Missense_Mutation_p.P256L	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	Homo sapiens denticleless homolog (Drosophila) (DTL), mRNA.	527					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|centrosome|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		ATCATGTCTCCGAGAAAAGCC	0.493													T	212273912	C	T	212273912	3	4	4	1	0	0	0	0	1	0	0	0	4787	652	23	1	1634	1	DTL	1	212273912	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	431457	212273912	36976709	341	2406											
RPS6KC1	26750	broad.mit.edu	37	chr1	213414415	213414415	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagggtctttgaatgaggaGcccttcatgaagactgaagg	13	8	2	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:213414415G>T	uc010ptr.2	+	10	1755	c.1596G>T	c.(1594-1596)gaG>gaT	p.E532D	RPS6KC1_uc001hkd.3_Missense_Mutation_p.E520D|RPS6KC1_uc010pts.2_Missense_Mutation_p.E320D|RPS6KC1_uc010ptt.2_Missense_Mutation_p.E320D|RPS6KC1_uc010ptu.2_Missense_Mutation_p.E351D|RPS6KC1_uc010ptv.2_Missense_Mutation_p.E67D|RPS6KC1_uc001hke.3_Missense_Mutation_p.E351D	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	532					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGAATGAGGAGCCCTTCATGA	0.418													T	213414415	G	T	213414415	3	4	4	1	0	0	0	0	1	0	0	0	13658	962	34	5	1638	5	RPS6KC1	1	213414415	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1140503	213414415	35836206	342	2407											
PROX1	5629	broad.mit.edu	37	chr1	214171100	214171100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttccacaccgccaaccagCgcctgcagtgctttggcgac	9	16	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:214171100C>T	uc001hkh.3	+	1	1494	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	PROX1_uc001hkg.1_Missense_Mutation_p.R408C	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	408					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CGCCAACCAGCGCCTGCAGTG	0.587													T	214171100	C	T	214171100	3	4	4	1	0	0	0	0	1	0	0	0	12560	768	27	1	1224	1	PROX1	1	214171100	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	756685	214171100	35079521	343	2408											
PROX1	5629	broad.mit.edu	37	chr1	214171117	214171117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgcctgcagtgctttggCgacgtcatcattccgaaccc	10	15	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:214171117C>T	uc001hkh.3	+	1	1511	c.1239C>T	c.(1237-1239)ggC>ggT	p.G413G	PROX1_uc001hkg.1_Silent_p.G413G	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	413					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGTGCTTTGGCGACGTCATCA	0.562													T	214171117	C	T	214171117	2	4	4	1	0	0	0	0	0	0	0	1	12560	755	27	1		1	PROX1	1	214171117	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	17	214171117	35079504	344	2409											
PROX1	5629	broad.mit.edu	37	chr1	214178556	214178556	+	Frame_Shift_Del	DEL	T	T	-													tgaaaaaagcaaagctcatgTttttttatacccgttatccc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:214178555_214178555GT>G	uc001hkh.3	+	2	2045	c.1773_1773GT>G	c.(1771-1773)atgfs	p.M591fs		NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	591					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CAAAGCTCATGTTTTTTTATA	0.383													-	214178556	T	-	214178556	7	5	4	1	0	1	0	1	0	0	0	0	12560	1725	60	0	1780	0	PROX1	1	214178556	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	7439	214178556	35072065	345	2410											
KCTD3	51133	broad.mit.edu	37	chr1	215793881	215793881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgactcacctggtactgCgtccccatctcctacaaaga	6	15	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:215793881C>T	uc001hks.3	+	17	2663	c.2369C>T	c.(2368-2370)gCg>gTg	p.A790V	KCTD3_uc001hkt.3_Missense_Mutation_p.A788V|KCTD3_uc010pub.2_Missense_Mutation_p.A688V|KCTD3_uc009xdn.3_Missense_Mutation_p.A514V	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA.	790						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CCTGGTACTGCGTCCCCATCT	0.463													T	215793881	C	T	215793881	3	4	4	1	0	0	0	0	1	0	0	0	8110	768	27	1	2439	1	KCTD3	1	215793881	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1615325	215793881	33456740	346	2411											
USH2A	7399	broad.mit.edu	37	chr1	216040396	216040396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtggttaaggacactcGcagtgagattggctcctctc	12	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:216040396G>A	uc001hku.1	-	43	9185	c.8798C>T	c.(8797-8799)gCg>gTg	p.A2933V		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2933	Fibronectin type-III 16.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGGACACTCGCAGTGAGATT	0.453										HNSCC(13;0.011)			A	216040396	G	A	216040396	3	1	4	1	0	0	0	0	1	0	0	0	17033	1087	38	1	6926	1	USH2A	1	216040396	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	246515	216040396	33210225	347	2412											
USH2A	7399	broad.mit.edu	37	chr1	216595645	216595645	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatgacctgaaacaagaAgccagagcccaatgaaagaa	8	9	1	6			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:216595645A>C	uc001hku.1	-	1	421	c.34T>G	c.(34-36)Ttc>Gtc	p.F12V	USH2A_uc001hkv.3_Missense_Mutation_p.F12V	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	12					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAAACAAGAAGCCAGAGCCC	0.423										HNSCC(13;0.011)			C	216595645	A	C	216595645	3	2	4	1	0	0	0	0	1	0	0	0	17033	72	3	5	15872	5	USH2A	1	216595645	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	555249	216595645	32654976	348	2413											
TGFB2	7042	broad.mit.edu	37	chr1	218607501	218607501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaaacaagagcagaaggCgaatggctctccttcgatgt	12	8	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:218607501C>T	uc001hlm.3	+	2	1956	c.588C>T	c.(586-588)ggC>ggT	p.G196G	TGFB2_uc001hln.3_Silent_p.G224G|TGFB2_uc010pue.2_Non-coding_Transcript|TGFB2_uc001hlo.3_Non-coding_Transcript	NM_003238	NP_003229	P61812	TGFB2_HUMAN	Homo sapiens transforming growth factor, beta 2 (TGFB2), transcript variant 2, mRNA.	196					SMAD protein import into nucleus|activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GAGCAGAAGGCGAATGGCTCT	0.453													T	218607501	C	T	218607501	2	4	4	1	0	0	0	0	0	0	0	1	15815	755	27	1		1	TGFB2	1	218607501	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2011856	218607501	30643120	349	2414											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220345285	220345285	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacagaatgcccaacatgCgcagacaacagagcggctcc	10	14	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:220345285C>T	uc010puk.1	-	22	2687	c.2523G>A	c.(2521-2523)gcG>gcA	p.A841A	RAB3GAP2_uc021pjf.1_Silent_p.A841A|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Silent_p.A421A	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	841					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	p.S840T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GCCCAACATGCGCAGACAACA	0.488													T	220345285	C	T	220345285	2	4	4	1	0	0	0	0	0	0	0	1	12936	755	27	1		1	RAB3GAP2	1	220345285	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1737784	220345285	28905336	350	2415											
DUSP10	11221	broad.mit.edu	37	chr1	221912575	221912575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtcaatgatgacagggCcctgactcggcaggtgactc	13	11	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:221912575C>T	uc001hmy.2	-	1	749	c.512G>A	c.(511-513)gGc>gAc	p.G171D	DUSP10_uc001hmx.2_5'Flank|DUSP10_uc001hmz.2_Intron	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	Homo sapiens dual specificity phosphatase 10 (DUSP10), transcript variant 1, mRNA.	171	Rhodanese.				JNK cascade|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GATGACAGGGCCCTGACTCGG	0.517													T	221912575	C	T	221912575	3	4	4	1	0	0	0	0	1	0	0	0	4810	739	26	2	948	2	DUSP10	1	221912575	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1567290	221912575	27338046	351	2416											
HHIPL2	79802	broad.mit.edu	37	chr1	222696094	222696094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcgcaatgtattcttgCtgcttgtaggagaagccagc	11	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:222696094C>T	uc001hnh.1	-	8	2082	c.2024G>A	c.(2023-2025)aGc>aAc	p.S675N		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	675					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TGTATTCTTGCTGCTTGTAGG	0.547													T	222696094	C	T	222696094	3	4	4	1	0	0	0	0	1	0	0	0	7094	797	28	2	154	2	HHIPL2	1	222696094	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	783519	222696094	26554527	352	2417											
HHIPL2	79802	broad.mit.edu	37	chr1	222717211	222717211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacggggttcctcagcccGttggccacctcgctcaggca	13	15	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:222717211G>A	uc001hnh.1	-	1	700	c.642C>T	c.(640-642)aaC>aaT	p.N214N		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	214					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCCTCAGCCCGTTGGCCACCT	0.617													A	222717211	G	A	222717211	2	1	4	1	0	0	0	0	0	0	0	1	7094	1136	40	1		1	HHIPL2	1	222717211	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	21117	222717211	26533410	353	2418											
MIA3	375056	broad.mit.edu	37	chr1	222803003	222803003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaatggtggaaaaagaacGccctctggcagataagaaag	11	7	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:222803003G>A	uc001hnl.3	+	3	2450	c.2441G>A	c.(2440-2442)cGc>cAc	p.R814H	MIA3_uc009xea.1_Missense_Mutation_p.R650H	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	814					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GAAAAAGAACGCCCTCTGGCA	0.418													A	222803003	G	A	222803003	3	1	4	1	0	0	0	0	1	0	0	0	9565	1087	38	1	2455	1	MIA3	1	222803003	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	85792	222803003	26447618	354	2419											
DISP1	84976	broad.mit.edu	37	chr1	223177973	223177973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatcttctctctgagtcgCgtgggctctgcgatggccat	13	11	4	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:223177973C>T	uc001hnu.2	+	9	3560	c.3234C>T	c.(3232-3234)cgC>cgT	p.R1078R		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1078					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CTCTGAGTCGCGTGGGCTCTG	0.592													T	223177973	C	T	223177973	2	4	4	1	0	0	0	0	0	0	0	1	4539	755	27	1		1	DISP1	1	223177973	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	374970	223177973	26072648	355	2420											
DISP1	84976	broad.mit.edu	37	chr1	223178672	223178672	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtccagatccaaaacggCgtggcacctctgaaggccac	10	13	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:223178672C>T	uc001hnu.2	+	9	4259	c.3933C>T	c.(3931-3933)ggC>ggT	p.G1311G		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1311					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TCCAAAACGGCGTGGCACCTC	0.577													T	223178672	C	T	223178672	2	4	4	1	0	0	0	0	0	0	0	1	4539	755	27	1		1	DISP1	1	223178672	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	699	223178672	26071949	356	2421											
CAPN2	824	broad.mit.edu	37	chr1	223933116	223933116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggagcgagttctggagcGccctgctggagaaggcatac	16	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:223933116G>A	uc001hob.4	+	3	759	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	CAPN2_uc010puy.2_Missense_Mutation_p.A101T	NM_001748	NP_001139540	P17655	CAN2_HUMAN	Homo sapiens calpain 2, (m/II) large subunit (CAPN2), transcript variant 1, mRNA.	179	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		GTTCTGGAGCGCCCTGCTGGA	0.592													A	223933116	G	A	223933116	3	1	4	1	0	0	0	0	1	0	0	0	2627	1087	38	1	556	1	CAPN2	1	223933116	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	754444	223933116	25317505	357	2422											
EPHX1	2052	broad.mit.edu	37	chr1	226016576	226016576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggaggacgacagcatccGccctttcaaggtggaaacgt	13	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:226016576G>A	uc001hpk.3	+	1	226	c.146G>A	c.(145-147)cGc>cAc	p.R49H	EPHX1_uc001hpl.3_Missense_Mutation_p.R49H	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	49			R -> C (in allele EPHX1*2; dbSNP:rs2234697).		aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GACAGCATCCGCCCTTTCAAG	0.612													A	226016576	G	A	226016576	3	1	4	1	0	0	0	0	1	0	0	0	5179	1087	38	1	148	1	EPHX1	1	226016576	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2083460	226016576	23234045	358	2423											
H3F3B	3021	broad.mit.edu	37	chr1	226253372	226253372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaggcctggtactgtggcGctccgtgaaattagacgtta	12	8	0	2	rs143861201		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:226253372G>A	uc001hpw.3	+	2	272	c.144G>A	c.(142-144)gcG>gcA	p.A48A	H3F3B_uc010pvl.2_Silent_p.A48A|H3F3B_uc021pjv.1_Silent_p.A48A	NM_005324	NP_005315	P84243	H33_HUMAN	Homo sapiens H3 histone, family 3B (H3.3B) (H3F3B), mRNA.	48					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTACTGTGGCGCTCCGTGAAA	0.403													A	226253372	G	A	226253372	2	1	4	1	0	0	0	0	0	0	0	1	6934	1074	38	1		1	H3F3B	1	226253372	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	236796	226253372	22997249	359	2424											
PARP1	142	broad.mit.edu	37	chr1	226576444	226576444	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccactccatccacctcatcGccttttctctttctgaagga	4	16	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:226576444G>A	uc001hqd.4	-	4	801	c.630C>T	c.(628-630)ggC>ggT	p.G210G		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	210					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CCACCTCATCGCCTTTTCTCT	0.428								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					A	226576444	G	A	226576444	2	1	4	1	0	0	0	0	0	0	0	1	11454	1074	38	1		1	PARP1	1	226576444	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	323072	226576444	22674177	360	2425											
ITPKB	3707	broad.mit.edu	37	chr1	226923286	226923286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagttggggtccagggtgCgctcagggtcactggagatg	18	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:226923286C>T	uc010pvo.2	-	1	2214	c.1874G>A	c.(1873-1875)cGc>cAc	p.R625H	ITPKB_uc001hqh.3_Missense_Mutation_p.R625H	NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	625							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GTCCAGGGTGCGCTCAGGGTC	0.557													T	226923286	C	T	226923286	3	4	4	1	0	0	0	0	1	0	0	0	7918	768	27	1	994	1	ITPKB	1	226923286	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	346842	226923286	22327335	361	2426											
OBSCN	84033	broad.mit.edu	37	chr1	228461716	228461716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacagctgccgtgtgggcGcagaggggcaggacttccca	15	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:228461716G>A	uc009xez.1	+	17	5427	c.5383G>A	c.(5383-5385)Gca>Aca	p.A1795T	OBSCN_uc001hsn.3_Missense_Mutation_p.A1795T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1795	Fibronectin type-III 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCGTGTGGGCGCAGAGGGGCA	0.682													A	228461716	G	A	228461716	3	1	4	1	0	0	0	0	1	0	0	0	10812	1087	38	1	5449	1	OBSCN	1	228461716	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1538430	228461716	20788905	362	2427											
OBSCN	84033	broad.mit.edu	37	chr1	228467553	228467553	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcacacggccgttggaGcccaagacagggcgtgagct	14	13	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:228467553G>A	uc009xez.1	+	27	7472	c.7428G>A	c.(7426-7428)gaG>gaA	p.E2476E	OBSCN_uc001hsn.3_Silent_p.E2476E|OBSCN_uc001hsp.1_Silent_p.E175E|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2476	Ig-like 24.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCGTTGGAGCCCAAGACAG	0.652													A	228467553	G	A	228467553	2	1	4	1	0	0	0	0	0	0	0	1	10812	962	34	2		2	OBSCN	1	228467553	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5837	228467553	20783068	363	2428											
OBSCN	84033	broad.mit.edu	37	chr1	228506834	228506834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggccgatgagctggcccGcactggagatgctgacctct	13	14	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:228506834G>A	uc009xez.1	+	53	14425	c.14381G>A	c.(14380-14382)cGc>cAc	p.R4794H	OBSCN_uc001hsn.3_Missense_Mutation_p.R4794H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4794					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.R5376H(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGCTGGCCCGCACTGGAGAT	0.652													A	228506834	G	A	228506834	3	1	4	1	0	0	0	0	1	0	0	0	10812	1087	38	1	14591	1	OBSCN	1	228506834	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	39281	228506834	20743787	364	2429											
HIST3H2A	92815	broad.mit.edu	37	chr1	228645350	228645350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatctcggcagtcaagtactCgagcaccgcggccagataga	12	12	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:228645350C>T	uc001hsy.3	-	0	211	c.169G>A	c.(169-171)Gag>Aag	p.E57K	HIST3H2BB_uc001hsz.3_5'Flank	NM_033445	NP_254280	Q7L7L0	H2A3_HUMAN	Homo sapiens histone cluster 3, H2a (HIST3H2A), mRNA.	57					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				GTCAAGTACTCGAGCACCGCG	0.687													T	228645350	C	T	228645350	3	4	4	1	0	0	0	0	1	0	0	0	7182	893	31	1	227	1	HIST3H2A	1	228645350	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	138516	228645350	20605271	365	2430											
C1orf96	126731	broad.mit.edu	37	chr1	229462504	229462504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgtgcacaggagcggacGcacagacgttgtgagtcttc	13	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:229462504G>A	uc001htl.4	-	2	695	c.617C>T	c.(616-618)gCg>gTg	p.A206V	C1orf96_uc009xfc.3_Non-coding_Transcript	NM_145257	NP_660300	Q6IQ19	CA096_HUMAN	Homo sapiens chromosome 1 open reading frame 96 (C1orf96), mRNA.	206						centrosome				breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				AGGAGCGGACGCACAGACGTT	0.532													A	229462504	G	A	229462504	3	1	4	1	0	0	0	0	1	0	0	0	2073	1087	38	1	203	1	C1orf96	1	229462504	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	817154	229462504	19788117	366	2431											
ACTA1	58	broad.mit.edu	37	chr1	229568586	229568586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgctctgagcctcgtcGcccacgtaggaatctttctg	9	14	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:229568586G>A	uc001htm.3	-	2	276	c.171C>T	c.(169-171)ggC>ggT	p.G57G		NM_001100	NP_001091	P68133	ACTS_HUMAN	Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA.	57					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GAGCCTCGTCGCCCACGTAGG	0.592													A	229568586	G	A	229568586	2	1	4	1	0	0	0	0	0	0	0	1	191	1074	38	1		1	ACTA1	1	229568586	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	106082	229568586	19682035	367	2432											
ABCB10	23456	broad.mit.edu	37	chr1	229676376	229676376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaagaaaccagcccgggCgaatgcctctttccttgcta	8	14	1	1	rs143346649		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:229676376C>T	uc001htp.4	-	4	1223	c.1180G>A	c.(1180-1182)Gcc>Acc	p.A394T		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 10 (ABCB10), nuclear gene encoding mitochondrial protein, mRNA.	394	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CCAGCCCGGGCGAATGCCTCT	0.413													T	229676376	C	T	229676376	3	4	4	1	0	0	0	0	1	0	0	0	41	768	27	1	1072	1	ABCB10	1	229676376	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	107790	229676376	19574245	368	2433											
TAF5L	27097	broad.mit.edu	37	chr1	229730363	229730363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtcctcgccagcagacGccaagtacttaccgttggga	12	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:229730363G>A	uc001htq.3	-	4	1617	c.1451C>T	c.(1450-1452)gCg>gTg	p.A484V		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.	484					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)				GCCAGCAGACGCCAAGTACTT	0.587													A	229730363	G	A	229730363	3	1	4	1	0	0	0	0	1	0	0	0	15526	1087	38	1	322	1	TAF5L	1	229730363	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	53987	229730363	19520258	369	2434											
URB2	9816	broad.mit.edu	37	chr1	229771702	229771702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagtttcgaaccaaaaaaGcccaggaggcgcttattcgt	10	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:229771702G>A	uc001hts.1	+	3	1478	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T	URB2_uc009xfd.1_Missense_Mutation_p.A448T	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	448						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AACCAAAAAAGCCCAGGAGGC	0.493													A	229771702	G	A	229771702	3	1	4	1	0	0	0	0	1	0	0	0	17022	971	34	2	1352	2	URB2	1	229771702	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	41339	229771702	19478919	370	2435											
URB2	9816	broad.mit.edu	37	chr1	229783427	229783427	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccctttggaccatctgaaGccgctggagtatggaagcgt	13	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:229783427G>T	uc001hts.1	+	6	4213	c.4077G>T	c.(4075-4077)aaG>aaT	p.K1359N	URB2_uc009xfd.1_Missense_Mutation_p.K1359N	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	1359						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ACCATCTGAAGCCGCTGGAGT	0.607													T	229783427	G	T	229783427	3	4	4	1	0	0	0	0	1	0	0	0	17022	962	34	5	4099	5	URB2	1	229783427	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	11725	229783427	19467194	371	2436											
PGBD5	79605	broad.mit.edu	37	chr1	230492910	230492910	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgccttcatctccgtcagCgtcacctccacccaggctcc	6	20	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:230492910C>T	uc010pwb.2	-	1	306	c.282G>A	c.(280-282)acG>acA	p.T94T		NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	Homo sapiens piggyBac transposable element derived 5 (PGBD5), mRNA.	94						integral to membrane		p.T193T(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TCTCCGTCAGCGTCACCTCCA	0.577													T	230492910	C	T	230492910	2	4	4	1	0	0	0	0	0	0	0	1	11784	755	27	1		1	PGBD5	1	230492910	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	709483	230492910	18757711	372	2437											
CAPN9	10753	broad.mit.edu	37	chr1	230910313	230910313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctagttctccggagtggCgttctgttggtccagctgag	13	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:230910313C>T	uc001htz.1	+	7	1002	c.889C>T	c.(889-891)Cgt>Tgt	p.R297C	CAPN9_uc009xfg.1_Missense_Mutation_p.R234C|CAPN9_uc001hua.1_Intron	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	297	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TCCGGAGTGGCGTTCTGTTGG	0.498													T	230910313	C	T	230910313	3	4	4	1	0	0	0	0	1	0	0	0	2632	768	27	1	919	1	CAPN9	1	230910313	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	417403	230910313	18340308	373	2438											
TTC13	79573	broad.mit.edu	37	chr1	231090101	231090101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcattgttgaaaaatgcCgtattgcttcatcatacaga	8	7	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:231090101C>T	uc001huf.4	-	3	533	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	TTC13_uc001hug.4_Missense_Mutation_p.R164Q|TTC13_uc009xfj.3_Non-coding_Transcript|TTC13_uc009xfk.2_Missense_Mutation_p.R107Q	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	Homo sapiens tetratricopeptide repeat domain 13 (TTC13), transcript variant 1, mRNA.	164							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TGAAAAATGCCGTATTGCTTC	0.303													T	231090101	C	T	231090101	3	4	4	1	0	0	0	0	1	0	0	0	16677	652	23	1	2171	1	TTC13	1	231090101	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	179788	231090101	18160520	374	2439											
EXOC8	149371	broad.mit.edu	37	chr1	231471819	231471819	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcaatgatgatttctttgTaactgtgcaaggccccttgg	9	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:231471819T>C	uc001huq.3	-	0	1760	c.1673A>G	c.(1672-1674)tAc>tGc	p.Y558C		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	Homo sapiens exocyst complex component 8 (EXOC8), mRNA.	558					exocytosis|protein transport	growth cone|nucleus	protein binding	p.Y558*(1)		cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GATTTCTTTGTAACTGTGCAA	0.483													C	231471819	T	C	231471819	3	2	4	1	0	0	0	0	1	0	0	0	5311	1638	57	3	508	3	EXOC8	1	231471819	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	381718	231471819	17778802	375	2440											
NID1	4811	broad.mit.edu	37	chr1	236228195	236228195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgtcgtagaagcggagcGccccactcagctccagggca	12	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:236228195G>A	uc001hxo.3	-	0	287	c.185C>T	c.(184-186)gCg>gTg	p.A62V	NID1_uc009xgd.3_Missense_Mutation_p.A62V|AX747246_uc001hxp.1_Silent_p.A112A	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	62					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GAAGCGGAGCGCCCCACTCAG	0.716													A	236228195	G	A	236228195	3	1	4	1	0	0	0	0	1	0	0	0	10414	1087	38	1	3638	1	NID1	1	236228195	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4756376	236228195	13022426	376	2441											
HEATR1	55127	broad.mit.edu	37	chr1	236721600	236721600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctgctatgcacagcagcGcgcttcccaggacattcttc	8	16	2	0	rs143495736	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:236721600G>A	uc001hyd.2	-	35	5293	c.5141C>T	c.(5140-5142)gCg>gTg	p.A1714V	HEATR1_uc009xgh.2_Missense_Mutation_p.A876V	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1714					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.A1714T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCACAGCAGCGCGCTTCCCAG	0.562													A	236721600	G	A	236721600	3	1	4	1	0	0	0	0	1	0	0	0	7027	1087	38	1	1333	1	HEATR1	1	236721600	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	493405	236721600	12529021	377	2442											
MTR	4548	broad.mit.edu	37	chr1	237054573	237054573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattcacctgtacgcagagGctgctgtgccccaggctgca	11	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:237054573G>A	uc001hyi.4	+	28	3571	c.3148G>A	c.(3148-3150)Gct>Act	p.A1050T	MTR_uc010pxw.2_Missense_Mutation_p.A643T|MTR_uc010pxx.2_Missense_Mutation_p.A999T|MTR_uc010pxy.2_Missense_Mutation_p.A904T	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	1050	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GTACGCAGAGGCTGCTGTGCC	0.557													A	237054573	G	A	237054573	3	1	4	1	0	0	0	0	1	0	0	0	9958	1203	42	2	3262	2	MTR	1	237054573	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	332973	237054573	12196048	378	2443											
RYR2	6262	broad.mit.edu	37	chr1	237664107	237664107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgagtgccccaagcatctCgttccgaattaatggacaac	8	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:237664107C>T	uc001hyl.1	+	20	2420	c.2300C>T	c.(2299-2301)tCg>tTg	p.S767L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	767	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.S765*(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCAAGCATCTCGTTCCGAATT	0.408													T	237664107	C	T	237664107	3	4	4	1	0	0	0	0	1	0	0	0	13769	893	31	1	2382	1	RYR2	1	237664107	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	609534	237664107	11586514	379	2444											
RYR2	6262	broad.mit.edu	37	chr1	237753955	237753955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaggtgaccagaatagacGgcaccatagacagttcccca	10	12	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:237753955G>A	uc001hyl.1	+	30	3943	c.3823G>A	c.(3823-3825)Ggc>Agc	p.G1275S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1275	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G1273R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGAATAGACGGCACCATAGA	0.423													A	237753955	G	A	237753955	3	1	4	1	0	0	0	0	1	0	0	0	13769	1116	39	1	3945	1	RYR2	1	237753955	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	89848	237753955	11496666	380	2445											
RYR2	6262	broad.mit.edu	37	chr1	237774245	237774245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctggttggtgcagtgtttgGatcctctgcagttcatgtct	13	8	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:237774245G>A	uc001hyl.1	+	35	4987	c.4867G>A	c.(4867-4869)Gat>Aat	p.D1623N		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1623	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.P1622P(1)|p.P1622N(1)|p.P1622T(1)|p.P1622H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCAGTGTTTGGATCCTCTGCA	0.507													A	237774245	G	A	237774245	3	1	4	1	0	0	0	0	1	0	0	0	13769	1174	41	4	5009	4	RYR2	1	237774245	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	20290	237774245	11476376	381	2446											
RYR2	6262	broad.mit.edu	37	chr1	237780631	237780631	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgactgccaggtccggcacCggatagaagccattgtagcc	13	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:237780631C>G	uc001hyl.1	+	37	5881	c.5761C>G	c.(5761-5763)Cgg>Ggg	p.R1921G		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1921	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTCCGGCACCGGATAGAAGC	0.413													G	237780631	C	G	237780631	3	3	4	1	0	0	0	0	1	0	0	0	13769	643	23	5	5911	5	RYR2	1	237780631	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	6386	237780631	11469990	382	2447											
KMO	8564	broad.mit.edu	37	chr1	241695795	241695795	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtagctgtcattggtggtggCttggtaagaattttcagatg	14	4	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:241695795C>A	uc009xgp.3	+	0	362	c.51C>A	c.(49-51)ggC>ggA	p.G17G	KMO_uc001hyy.3_Silent_p.G57G|KMO_uc009xgo.2_Silent_p.G57G	NM_003679	NP_003670	O15229	KMO_HUMAN	Homo sapiens kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) (KMO), mRNA.	17					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity	p.G17G(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TTGGTGGTGGCTTGGTAAGAA	0.328													A	241695795	C	A	241695795	2	1	4	1	0	0	0	0	0	0	0	1	8424	784	28	5		5	KMO	1	241695795	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3915164	241695795	7554826	383	2448											
ZNF238	10472	broad.mit.edu	37	chr1	244217659	244217659	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgggaacatgtggatgCgattgccctcagactcagca	12	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:244217659C>T	uc001iad.4	+	1	756	c.583C>T	c.(583-585)Cga>Tga	p.R195*	ZNF238_uc001iae.3_Nonsense_Mutation_p.R186*|ZNF238_uc001iaf.1_Nonsense_Mutation_p.R186*	NM_205768	NP_006343	Q99592	ZN238_HUMAN	Homo sapiens zinc finger protein 238 (ZNF238), transcript variant 1, mRNA.	186				KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHAT AAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSS LSGVENLNSSYFSSQ -> IEHPAQQKGLGGRAWEHVDAIA LRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE (in Ref. 1; AAA81368).	negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R186*(2)		NS(1)|breast(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(5)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			CATGTGGATGCGATTGCCCTC	0.572													T	244217659	C	T	244217659	4	4	4	1	0	0	0	0	0	1	0	0	17787	760	27	1	589	1	ZNF238	1	244217659	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2521864	244217659	5032962	384	2449											
ZNF124	7678	broad.mit.edu	37	chr1	247320104	247320104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttctgaagggaactggCgtatctgaaggctttcccac	12	9	2	2	rs139164874	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:247320104C>T	uc001ick.3	-	3	959	c.820G>A	c.(820-822)Gcc>Acc	p.A274T	ZNF124_uc001ici.3_Intron|ZNF124_uc001icj.1_Missense_Mutation_p.A212T	NM_003431	NP_003422	Q15973	ZN124_HUMAN	Homo sapiens zinc finger protein 124 (ZNF124), transcript variant 1, mRNA.	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			AGGGAACTGGCGTATCTGAAG	0.433													T	247320104	C	T	247320104	3	4	4	1	0	0	0	0	1	0	0	0	17717	768	27	1	239	1	ZNF124	1	247320104	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3102445	247320104	1930517	385	2450											
ZNF496	84838	broad.mit.edu	37	chr1	247492570	247492570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgctctcaggctcctgcGcccgcacccagctctggatc	9	20	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:247492570G>A	uc009xgv.3	-	0	348	c.311C>T	c.(310-312)gCg>gTg	p.A104V	ZNF496_uc001ico.3_Missense_Mutation_p.A104V|ZNF496_uc010pyv.1_Missense_Mutation_p.A104V	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	104	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			AGGCTCCTGCGCCCGCACCCA	0.677													A	247492570	G	A	247492570	3	1	4	1	0	0	0	0	1	0	0	0	17942	1087	38	1	1480	1	ZNF496	1	247492570	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	172466	247492570	1758051	386	2451											
ZNF496	84838	broad.mit.edu	37	chr1	247492680	247492680	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggccgcagccagcccccGcacaggtcccagaggcgctg	13	18	1	1	rs140768491		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:247492680G>A	uc009xgv.3	-	0	238	c.201C>T	c.(199-201)tgC>tgT	p.C67C	ZNF496_uc001ico.3_Silent_p.C67C|ZNF496_uc010pyv.1_Silent_p.C67C	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	67	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GCCAGCCCCCGCACAGGTCCC	0.697													A	247492680	G	A	247492680	2	1	4	1	0	0	0	0	0	0	0	1	17942	1079	38	1		1	ZNF496	1	247492680	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	110	247492680	1757941	387	2452											
OR2W5	441932	broad.mit.edu	37	chr1	247654661	247654661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctttacagcaagcattGcccctcagctgctgtggaac	9	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:247654661G>A	uc001icz.2	+	0	292	c.232G>A	c.(232-234)Gcc>Acc	p.A78T		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGCAAGCATTGCCCCTCAGCT	0.527													A	247654661	G	A	247654661	3	1	4	1	0	0	0	0	1	0	0	0	11034	1319	46	2	234	2	OR2W5	1	247654661	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	161981	247654661	1595960	388	2453											
OR2G2	81470	broad.mit.edu	37	chr1	247752569	247752569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcaaggaggtgaaaggggCattaaagaaagttctagcaa	13	4	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:247752569C>T	uc010pyy.2	+	0	908	c.908C>T	c.(907-909)gCa>gTa	p.A303V		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G302V(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGAAAGGGGCATTAAAGAAA	0.363													T	247752569	C	T	247752569	3	4	4	1	0	0	0	0	1	0	0	0	10998	710	25	2	910	2	OR2G2	1	247752569	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	97908	247752569	1498052	389	2454											
OR2M3	127062	broad.mit.edu	37	chr1	248366705	248366705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactgcttggctctgagtgCtttcttttggctgttatggc	11	9	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:248366705C>T	uc010pzg.2	+	0	336	c.336C>T	c.(334-336)tgC>tgT	p.C112C		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTCTGAGTGCTTTCTTTTGG	0.453													T	248366705	C	T	248366705	2	4	4	1	0	0	0	0	0	0	0	1	11011	805	28	2		2	OR2M3	1	248366705	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	614136	248366705	883916	390	2455											
OR2T4	127074	broad.mit.edu	37	chr1	248525590	248525590	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcatgtacttgtgctgtgtCctcatgctcctcatccctgt	7	13	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:248525590C>T	uc001ieh.1	+	0	708	c.708C>T	c.(706-708)gtC>gtT	p.V236V		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGCTGTGTCCTCATGCTCC	0.483													T	248525590	C	T	248525590	2	4	4	1	0	0	0	0	0	0	0	1	11027	842	30	4		4	OR2T4	1	248525590	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	158885	248525590	725031	391	2456											
SH3BP5L	80851	broad.mit.edu	37	chr1	249108714	249108714	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggttcttgtcagccatgacGccctgctcagccacaaacac	8	16	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:249108714G>A	uc001iew.1	-	4	1023	c.471C>T	c.(469-471)ggC>ggT	p.G157G	SH3BP5L_uc010pzp.1_Silent_p.G50G|SH3BP5L_uc001iev.1_Silent_p.G38G	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	Homo sapiens SH3-binding domain protein 5-like (SH3BP5L), mRNA.	157										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CAGCCATGACGCCCTGCTCAG	0.627													A	249108714	G	A	249108714	2	1	4	1	0	0	0	0	0	0	0	1	14248	1074	38	1		1	SH3BP5L	1	249108714	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	583124	249108714	141907	392	2457											
PGBD2	267002	broad.mit.edu	37	chr1	249211828	249211828	+	Frame_Shift_Del	DEL	T	T	-													gttttctgccatatcacataTtttttgacaaggttttcaca							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:249211827_249211827AT>A	uc001ifh.3	+	2	1191	c.1044_1044AT>A	c.(1042-1044)atafs	p.I348fs	PGBD2_uc001ifg.3_Frame_Shift_Del_p.I97fs|PGBD2_uc009xhd.3_Frame_Shift_Del_p.I345fs|PGBD2_uc021pmh.1_Frame_Shift_Del_p.I97fs	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	348										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CATATCACATATTTTTTGACA	0.438													-	249211828	T	-	249211828	7	5	4	1	0	1	0	1	0	0	0	0	11781	1493	52	0	1051	0	PGBD2	1	249211828	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	103114	249211828	38793	393	2458											
PGBD2	267002	broad.mit.edu	37	chr1	249211954	249211954	+	Frame_Shift_Del	DEL	A	A	-													taaaagaccccaaagaactgAaaaaaatgaagaggggttca							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:249211953_249211953GA>G	uc001ifh.3	+	2	1317	c.1170_1170GA>G	c.(1168-1170)ctgfs	p.L390fs	PGBD2_uc001ifg.3_Frame_Shift_Del_p.L139fs|PGBD2_uc009xhd.3_Frame_Shift_Del_p.L387fs|PGBD2_uc021pmh.1_Frame_Shift_Del_p.L139fs	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	390										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CCAAAGAACTGAAAAAAATGA	0.463													-	249211954	A	-	249211954	7	5	4	1	0	1	0	1	0	0	0	0	11781	247	9	0	1177	0	PGBD2	1	249211954	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	126	249211954	38667	394	2459											
ACP1	52	broad.mit.edu	37	chr2	272055	272055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggagggtagacagcgcgGcaacttccgggtatgagata	16	7	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:272055G>A	uc002qwf.3	+	2	232	c.136G>A	c.(136-138)Gca>Aca	p.A46T	ACP1_uc002qwd.2_Missense_Mutation_p.A46T|ACP1_uc002qwe.4_Non-coding_Transcript|ACP1_uc002qwg.3_Intron|ACP1_uc002qwh.3_Non-coding_Transcript	NM_004300	NP_004291	P24666	PPAC_HUMAN	Homo sapiens acid phosphatase 1, soluble (ACP1), transcript variant 3, mRNA.	46						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		AGACAGCGCGGCAACTTCCGG	0.527													A	272055	G	A	272055	3	1	4	1	0	0	0	0	1	0	0	0	162	1203	42	2	146	2	ACP1	2	272055	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08		272055	242927318	395	2460											
TPO	7173	broad.mit.edu	37	chr2	1497645	1497645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacctgagcacagccatcGccagcaggagcgtggccgac	13	15	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:1497645G>A	uc002qwr.3	+	10	1926	c.1840G>A	c.(1840-1842)Gcc>Acc	p.A614T	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.A614T|TPO_uc002qwx.3_Missense_Mutation_p.A557T|TPO_uc002qwu.3_Missense_Mutation_p.A557T|TPO_uc010yio.2_Missense_Mutation_p.A441T|TPO_uc010yip.2_Missense_Mutation_p.A614T|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	614					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CACAGCCATCGCCAGCAGGAG	0.602													A	1497645	G	A	1497645	3	1	4	1	0	0	0	0	1	0	0	0	16407	1087	38	1	1878	1	TPO	2	1497645	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1225590	1497645	241701728	396	2461											
TPO	7173	broad.mit.edu	37	chr2	1507808	1507808	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcttccagtgtctctgCgcggacccctacgagttagg	14	13	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:1507808C>T	uc002qwr.3	+	13	2561	c.2475C>T	c.(2473-2475)tgC>tgT	p.C825C	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Silent_p.C825C|TPO_uc002qwx.3_Silent_p.C768C|TPO_uc002qwu.3_Silent_p.C768C|TPO_uc010yio.2_Silent_p.C652C|TPO_uc010yip.2_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	825	EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGTGTCTCTGCGCGGACCCCT	0.577													T	1507808	C	T	1507808	2	4	4	1	0	0	0	0	0	0	0	1	16407	776	27	1		1	TPO	2	1507808	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	10163	1507808	241691565	397	2462											
PXDN	7837	broad.mit.edu	37	chr2	1652167	1652167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagctgcgagggcacacGcattttccccgccaccccga	10	18	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:1652167G>A	uc002qxa.3	-	16	3449	c.3385C>T	c.(3385-3387)Cgt>Tgt	p.R1129C		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	1129					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GAGGGCACACGCATTTTCCCC	0.627													A	1652167	G	A	1652167	3	1	4	1	0	0	0	0	1	0	0	0	12847	1087	38	1	1082	1	PXDN	2	1652167	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	144359	1652167	241547206	398	2463											
MYT1L	23040	broad.mit.edu	37	chr2	1855433	1855433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgatgagaagcataattGccggtgatatgtccagaacc	10	10	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:1855433G>A	uc002qxe.3	-	18	3581	c.2754C>T	c.(2752-2754)ggC>ggT	p.G918G	MYT1L_uc002qxd.3_Silent_p.G916G	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	918					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G918D(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AAGCATAATTGCCGGTGATAT	0.423													A	1855433	G	A	1855433	2	1	4	1	0	0	0	0	0	0	0	1	10107	1306	46	2		2	MYT1L	2	1855433	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	203266	1855433	241343940	399	2464											
TSSC1	7260	broad.mit.edu	37	chr2	3197897	3197897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggattaaagtcaaggtcccGcaccagctgtccgtgggcat	13	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:3197897G>A	uc002qxj.2	-	6	887	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	TSSC1_uc002qxi.2_Non-coding_Transcript	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	Homo sapiens tumor suppressing subtransferable candidate 1 (TSSC1), mRNA.	232							protein binding	p.R232G(2)		breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		TCAAGGTCCCGCACCAGCTGT	0.502													A	3197897	G	A	3197897	3	1	4	1	0	0	0	0	1	0	0	0	16663	1086	38	1	481	1	TSSC1	2	3197897	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1342464	3197897	240001476	400	2465											
KIDINS220	57498	broad.mit.edu	37	chr2	8871355	8871355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaagctgggagtcatccGccacttcattgtgcagagag	11	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:8871355G>A	uc002qzc.2	-	29	4993	c.4811C>T	c.(4810-4812)gCg>gTg	p.A1604V	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.A1505V|KIDINS220_uc002qzb.2_Missense_Mutation_p.A458V	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1604					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGAGTCATCCGCCACTTCATT	0.488													A	8871355	G	A	8871355	3	1	4	1	0	0	0	0	1	0	0	0	8271	1087	38	1	508	1	KIDINS220	2	8871355	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5673458	8871355	234328018	401	2466											
KIDINS220	57498	broad.mit.edu	37	chr2	8890383	8890383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggctgtaccctgatggCgccctaggaggaccctcatg	14	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:8890383C>T	uc002qzc.2	-	23	3455	c.3273G>A	c.(3271-3273)gcG>gcA	p.A1091A	KIDINS220_uc010yiv.1_Silent_p.A857A|KIDINS220_uc002qzd.2_Silent_p.A1049A|KIDINS220_uc010yiw.1_Silent_p.A1092A|KIDINS220_uc002qzb.2_5'UTR|KIDINS220_uc002qze.3_Silent_p.A96A	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1091	Mediates interaction with CRKL (By similarity).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCCTGATGGCGCCCTAGGAG	0.577													T	8890383	C	T	8890383	2	4	4	1	0	0	0	0	0	0	0	1	8271	755	27	1		1	KIDINS220	2	8890383	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	19028	8890383	234308990	402	2467											
ASAP2	8853	broad.mit.edu	37	chr2	9437489	9437489	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagtttggcggcaactgtgTatgcagagatgacccagatt	13	7	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:9437489T>C	uc002qzh.2	+	2	600	c.260T>C	c.(259-261)gTa>gCa	p.V87A	ASAP2_uc002qzi.2_Missense_Mutation_p.V87A	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	87					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GGCAACTGTGTATGCAGAGAT	0.488													C	9437489	T	C	9437489	3	2	4	1	0	0	0	0	1	0	0	0	1011	1638	57	3	270	3	ASAP2	2	9437489	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	547106	9437489	233761884	403	2468											
ITGB1BP1	9270	broad.mit.edu	37	chr2	9548269	9548269	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgatgttgatacttttatGccatacttggaaactcccat	6	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:9548269G>A	uc002qzj.3	-	4	531	c.354C>T	c.(352-354)ggC>ggT	p.G118G	ITGB1BP1_uc002qzm.3_Non-coding_Transcript|ITGB1BP1_uc002qzk.3_Silent_p.G118G|ITGB1BP1_uc002qzl.3_Non-coding_Transcript|ITGB1BP1_uc010yiy.2_Silent_p.G74G|ITGB1BP1_uc002qzn.1_Silent_p.G118G	NM_004763	NP_004754	O14713	ITBP1_HUMAN	Homo sapiens integrin beta 1 binding protein 1 (ITGB1BP1), transcript variant 1, mRNA.	118	PID.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		ATACTTTTATGCCATACTTGG	0.308													A	9548269	G	A	9548269	2	1	4	1	0	0	0	0	0	0	0	1	7891	1306	46	2		2	ITGB1BP1	2	9548269	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	110780	9548269	233651104	404	2469											
CPSF3	51692	broad.mit.edu	37	chr2	9572738	9572738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgaagttaaggaagttgCgggaatcaagttttggtgtt	13	3	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:9572738C>T	uc002qzo.1	+	4	475	c.440C>T	c.(439-441)gCg>gTg	p.A147V	CPSF3_uc010ewx.1_Missense_Mutation_p.A147V|CPSF3_uc002qzp.1_Missense_Mutation_p.A110V	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3, 73kDa (CPSF3), mRNA.	147					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|RNA binding|endoribonuclease activity|metal ion binding|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		AAGGAAGTTGCGGGAATCAAG	0.463													T	9572738	C	T	9572738	3	4	4	1	0	0	0	0	1	0	0	0	3826	768	27	1	458	1	CPSF3	2	9572738	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	24469	9572738	233626635	405	2470											
IAH1	285148	broad.mit.edu	37	chr2	9624576	9624576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataggttgcaaactaaatcGcctgaactctgttgttggtg	10	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:9624576G>A	uc002qzr.3	+	4	487	c.461G>A	c.(460-462)cGc>cAc	p.R154H	IAH1_uc002qzs.3_Missense_Mutation_p.R41H|IAH1_uc002qzt.3_Missense_Mutation_p.R41H|IAH1_uc010yiz.2_Non-coding_Transcript	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN	Homo sapiens isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae) (IAH1), mRNA.	154					lipid catabolic process		hydrolase activity, acting on ester bonds			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAACTAAATCGCCTGAACTCT	0.483													A	9624576	G	A	9624576	3	1	4	1	0	0	0	0	1	0	0	0	7471	1087	38	1	479	1	IAH1	2	9624576	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	51838	9624576	233574797	406	2471											
ADAM17	6868	broad.mit.edu	37	chr2	9634874	9634874	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagaaaggtccctgcagcaCaccttgcaggagttgtcagt	11	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:9634874C>G	uc002qzu.3	-	14	1989	c.1806G>C	c.(1804-1806)gtG>gtC	p.V602V	IAH1_uc010yiz.2_Non-coding_Transcript|ADAM17_uc010ewy.3_Silent_p.V602V|ADAM17_uc010ewz.3_Intron	NM_003183	NP_003174	P78536	ADA17_HUMAN	Homo sapiens ADAM metallopeptidase domain 17 (ADAM17), mRNA.	602	Cys-rich.				B cell differentiation|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|T cell differentiation in thymus|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	PDZ domain binding|SH3 domain binding|integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CCCTGCAGCACACCTTGCAGG	0.502													G	9634874	C	G	9634874	2	3	4	1	0	0	0	0	0	0	0	1	238	465	17	5		5	ADAM17	2	9634874	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	10298	9634874	233564499	407	2472											
YWHAQ	10971	broad.mit.edu	37	chr2	9728312	9728312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgttttagccagcgtgcaGgcaagctctgggttattaag	12	9	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:9728312G>A	uc002qzx.3	-	3	683	c.564C>T	c.(562-564)gcC>gcT	p.A188A		NM_006826	NP_006817	P27348	1433T_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide (YWHAQ), mRNA.	188					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		CCAGCGTGCAGGCAAGCTCTG	0.398													A	9728312	G	A	9728312	2	1	4	1	0	0	0	0	0	0	0	1	17502	987	35	4		4	YWHAQ	2	9728312	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	93438	9728312	233471061	408	2473											
TAF1B	9014	broad.mit.edu	37	chr2	10050891	10050891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatagcttaacttgccacGtggtaaaaatgactggaatg	10	7	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:10050891G>A	uc002qzz.3	+	9	1082	c.982G>A	c.(982-984)Gtg>Atg	p.V328M	TAF1B_uc010exc.2_Missense_Mutation_p.V328M|TAF1B_uc002qzy.4_Missense_Mutation_p.V328M|TAF1B_uc010yja.2_Missense_Mutation_p.V73M|TAF1B_uc010exd.3_Missense_Mutation_p.V73M	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA.	328					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AACTTGCCACGTGGTAAAAAT	0.343													A	10050891	G	A	10050891	3	1	4	1	0	0	0	0	1	0	0	0	15517	1145	40	1	1020	1	TAF1B	2	10050891	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	322579	10050891	233148482	409	2474											
ODC1	4953	broad.mit.edu	37	chr2	10581770	10581770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatttcaggcaggtcacagCgctcaacaatccgatcgagg	11	12	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:10581770C>T	uc010exg.1	-	10	1540	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	ODC1_uc002rao.1_Missense_Mutation_p.R369H|ODC1_uc010yjd.1_Missense_Mutation_p.R239H	NM_002539	NP_002530	P11926	DCOR_HUMAN	Homo sapiens ornithine decarboxylase 1 (ODC1), mRNA.	369					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	CAGGTCACAGCGCTCAACAAT	0.478													T	10581770	C	T	10581770	3	4	4	1	0	0	0	0	1	0	0	0	10825	768	27	1	287	1	ODC1	2	10581770	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	530879	10581770	232617603	410	2475											
KCNF1	3754	broad.mit.edu	37	chr2	11053250	11053250	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacggcgtgcattggctggtTcaccctggagtacctgctgc	14	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:11053250T>C	uc002rax.3	+	0	1188	c.698T>C	c.(697-699)tTc>tCc	p.F233S		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	233						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		ATTGGCTGGTTCACCCTGGAG	0.632													C	11053250	T	C	11053250	3	2	4	1	0	0	0	0	1	0	0	0	8026	1783	62	3	700	3	KCNF1	2	11053250	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	471480	11053250	232146123	411	2476											
KCNF1	3754	broad.mit.edu	37	chr2	11053818	11053818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgcgtcctggagaccgcGgccaagcacgagctggagct	15	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:11053818G>A	uc002rax.3	+	0	1756	c.1266G>A	c.(1264-1266)gcG>gcA	p.A422A		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	422						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TGGAGACCGCGGCCAAGCACG	0.617													A	11053818	G	A	11053818	2	1	4	1	0	0	0	0	0	0	0	1	8026	1103	39	1		1	KCNF1	2	11053818	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	568	11053818	232145555	412	2477											
LPIN1	23175	broad.mit.edu	37	chr2	11924028	11924028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatggatcctgaagtggcGgccctgtattttcccaaaaa	10	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:11924028G>A	uc010yjm.2	+	9	1538	c.1485G>A	c.(1483-1485)gcG>gcA	p.A495A	LPIN1_uc010yjn.2_Silent_p.A410A|LPIN1_uc002rbt.3_Silent_p.A410A|LPIN1_uc002rbs.3_Silent_p.A446A	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	410					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	p.D495N(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CTGAAGTGGCGGCCCTGTATT	0.428													A	11924028	G	A	11924028	2	1	4	1	0	0	0	0	0	0	0	1	8918	1103	39	1		1	LPIN1	2	11924028	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	870210	11924028	231275345	413	2478											
NBAS	51594	broad.mit.edu	37	chr2	15696925	15696925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtaccagatgtattggCgtaaaaataataaacgatct	7	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:15696925C>T	uc002rcc.1	-	2	217	c.191G>A	c.(190-192)cGc>cAc	p.R64H	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	64										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GATGTATTGGCGTAAAAATAA	0.279													T	15696925	C	T	15696925	3	4	4	1	0	0	0	0	1	0	0	0	10186	768	27	1	7124	1	NBAS	2	15696925	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3772897	15696925	227502448	414	2479											
OSR1	130497	broad.mit.edu	37	chr2	19552979	19552979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggccgctcgtcggtgtgCgtccgctcatggataagtag	15	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:19552979C>T	uc002rdc.3	-	1	891	c.588G>A	c.(586-588)acG>acA	p.T196T		NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN	Homo sapiens odd-skipped related 1 (Drosophila) (OSR1), mRNA.	196					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				CGTCGGTGTGCGTCCGCTCAT	0.592													T	19552979	C	T	19552979	2	4	4	1	0	0	0	0	0	0	0	1	11293	755	27	1		1	OSR1	2	19552979	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3856054	19552979	223646394	415	2480											
WDR35	57539	broad.mit.edu	37	chr2	20113444	20113444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattgggcttcctgtggcaaCgcatgttggcagtttccctt	12	10	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:20113444C>T	uc002rdi.3	-	27	3529	c.3421G>A	c.(3421-3423)Gtt>Att	p.V1141I	WDR35_uc002rdj.3_Missense_Mutation_p.V1130I|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_Silent_p.A533A	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA.	1141										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGTGGCAACGCATGTTGGC	0.408													T	20113444	C	T	20113444	3	4	4	1	0	0	0	0	1	0	0	0	17286	536	19	1	128	1	WDR35	2	20113444	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	560465	20113444	223085929	416	2481											
WDR35	57539	broad.mit.edu	37	chr2	20136078	20136078	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagttttcaggagctggagTactctaaaccaatcccccaa	7	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:20136078T>C	uc002rdi.3	-	20	2457	c.2349A>G	c.(2347-2349)gtA>gtG	p.V783V	WDR35_uc002rdj.3_Silent_p.V772V|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_Silent_p.V348V|WDR35_uc002rdk.4_Silent_p.V348V	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA.	783										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGCTGGAGTACTCTAAACC	0.433													C	20136078	T	C	20136078	2	2	4	1	0	0	0	0	0	0	0	1	17286	1625	57	3		3	WDR35	2	20136078	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	22634	20136078	223063295	417	2482											
ATAD2B	54454	broad.mit.edu	37	chr2	24033274	24033274	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagaatctttctagagtgTgcaaaagtgctggagcaagg	13	6	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:24033274T>C	uc002rek.4	-	17	2662	c.2366A>G	c.(2365-2367)cAc>cGc	p.H789R	ATAD2B_uc002rei.4_Missense_Mutation_p.H789R|ATAD2B_uc010yki.2_Non-coding_Transcript|ATAD2B_uc002rej.4_5'UTR	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	Homo sapiens ATPase family, AAA domain containing 2B (ATAD2B), transcript variant 1, mRNA.	789							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTAGAGTGTGCAAAAGTGC	0.473													C	24033274	T	C	24033274	3	2	4	1	0	0	0	0	1	0	0	0	1072	1696	59	3	2054	3	ATAD2B	2	24033274	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	3897196	24033274	219166099	418	2483											
ATAD2B	54454	broad.mit.edu	37	chr2	24033337	24033337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctccagagagcaataagCgtggcctgtaagaggttggc	14	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:24033337C>T	uc002rek.4	-	17	2599	c.2303G>A	c.(2302-2304)cGc>cAc	p.R768H	ATAD2B_uc002rei.4_Missense_Mutation_p.R768H|ATAD2B_uc010yki.2_Non-coding_Transcript|ATAD2B_uc002rej.4_5'UTR	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	Homo sapiens ATPase family, AAA domain containing 2B (ATAD2B), transcript variant 1, mRNA.	768							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCAATAAGCGTGGCCTGTA	0.413													T	24033337	C	T	24033337	3	4	4	1	0	0	0	0	1	0	0	0	1072	768	27	1	2117	1	ATAD2B	2	24033337	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	63	24033337	219166036	419	2484											
ITSN2	50618	broad.mit.edu	37	chr2	24484596	24484596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccaaccaggttctcctaCggttttttcatcaacctacg	6	13	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:24484596C>T	uc002rfe.2	-	20	2629	c.2371G>A	c.(2371-2373)Gta>Ata	p.V791I	ITSN2_uc002rff.2_Missense_Mutation_p.V764I|ITSN2_uc002rfg.3_Missense_Mutation_p.V791I	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	791	SH3 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTTCTCCTACGGTTTTTTCA	0.333													T	24484596	C	T	24484596	3	4	4	1	0	0	0	0	1	0	0	0	7927	536	19	1	2853	1	ITSN2	2	24484596	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	451259	24484596	218714777	420	2485											
ITSN2	50618	broad.mit.edu	37	chr2	24524111	24524111	+	Splice_Site	DEL	A	A	-													tcaatttgctttcctcctctAaaaaaatcaaacaacaaagt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:24524110_24524110TA>T	uc002rfe.2	-	11	1254	c.996_splice	c.e11-1	p.R332_splice	ITSN2_uc002rff.2_Splice_Site_p.R332_splice|ITSN2_uc002rfg.3_Splice_Site_p.R332_splice|ITSN2_uc010eyd.2_Splice_Site_p.R357_splice	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	332	EH 2.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCCTCCTCTAAAAAAATCA	0.368													-	24524111	A	-	24524111	8	5	4	1	0	1	0	1	0	0	1	0	7927	377	13	0		0	ITSN2	2	24524111	Splice_Site	DEL	A	TCGA-BR-4184-01A-01D-1126-08	39515	24524111	218675262	421	2486											
POMC	5443	broad.mit.edu	37	chr2	25383970	25383970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactcgcccttcttgtaggCgttcttgatgatggcgtttt	10	10	3	2	rs145696771		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:25383970C>T	uc002rfy.1	-	3	1047	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	POMC_uc002rfz.1_Missense_Mutation_p.A262T|POMC_uc002rga.1_Missense_Mutation_p.A262T	NM_001035256	NP_001030333	P01189	COLI_HUMAN	Homo sapiens proopiomelanocortin (POMC), transcript variant 1, mRNA.	262					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	TTCTTGTAGGCGTTCTTGATG	0.657													T	25383970	C	T	25383970	3	4	4	1	0	0	0	0	1	0	0	0	12242	768	27	1	23	1	POMC	2	25383970	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	859859	25383970	217815403	422	2487											
POMC	5443	broad.mit.edu	37	chr2	25384011	25384011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacagcgtcaccaggggcGtctggctcttctcggaggtc	14	12	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:25384011G>A	uc002rfy.1	-	3	1006	c.743C>T	c.(742-744)aCg>aTg	p.T248M	POMC_uc002rfz.1_Missense_Mutation_p.T248M|POMC_uc002rga.1_Missense_Mutation_p.T248M	NM_001035256	NP_001030333	P01189	COLI_HUMAN	Homo sapiens proopiomelanocortin (POMC), transcript variant 1, mRNA.	248					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	CACCAGGGGCGTCTGGCTCTT	0.637													A	25384011	G	A	25384011	3	1	4	1	0	0	0	0	1	0	0	0	12242	1145	40	1	64	1	POMC	2	25384011	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	41	25384011	217815362	423	2488											
HADHA	3030	broad.mit.edu	37	chr2	26414236	26414236	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtccactatcttctgggcGccatacagatccacaaagcg	9	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:26414236G>A	uc002rgy.3	-	19	2305	c.2175C>T	c.(2173-2175)ggC>ggT	p.G725G	HADHA_uc010yks.2_Silent_p.G638G	NM_000182	NP_000173	P40939	ECHA_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	725					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TCTTCTGGGCGCCATACAGAT	0.517													A	26414236	G	A	26414236	2	1	4	1	0	0	0	0	0	0	0	1	6943	1074	38	1		1	HADHA	2	26414236	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1030225	26414236	216785137	424	2489											
HADHA	3030	broad.mit.edu	37	chr2	26437359	26437359	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcctttagtctgctttcGcactttttcttccacttttt	5	11	2	0	rs137852775		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:26437359G>A	uc002rgy.3	-	8	1001	c.871C>T	c.(871-873)Cga>Tga	p.R291*	HADHA_uc010yks.2_Nonsense_Mutation_p.R204*|HADHA_uc010ykt.1_Nonsense_Mutation_p.R204*	NM_000182	NP_000173	P40939	ECHA_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	291					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	p.R291*(2)|p.R204*(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	GTCTGCTTTCGCACTTTTTCT	0.343													A	26437359	G	A	26437359	4	1	4	1	0	0	0	0	0	1	0	0	6943	1095	38	1	1468	1	HADHA	2	26437359	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	23123	26437359	216762014	425	2490											
OTOF	9381	broad.mit.edu	37	chr2	26781400	26781400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccggtcgcccctgccccGcagctccgagactgtcttga	11	17	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:26781400G>A	uc002rhk.3	-	0	167	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	14					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCTGCCCCGCAGCTCCGAG	0.652													A	26781400	G	A	26781400	3	1	4	1	0	0	0	0	1	0	0	0	11303	1086	38	1	6466	1	OTOF	2	26781400	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	344041	26781400	216417973	426	2491											
DPYSL5	56896	broad.mit.edu	37	chr2	27121505	27121505	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgagctcatgatccctggCggggccaaggtgattgatgc	15	11	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:27121505C>T	uc002rhu.4	+	1	296	c.138C>T	c.(136-138)ggC>ggT	p.G46G	DPYSL5_uc002rhv.4_Silent_p.G46G|DPYSL5_uc021vev.1_Silent_p.G46G	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	46					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.G46G(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATCCCTGGCGGGGCCAAGG	0.592													T	27121505	C	T	27121505	2	4	4	1	0	0	0	0	0	0	0	1	4750	755	27	1		1	DPYSL5	2	27121505	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	340105	27121505	216077868	427	2492											
PREB	10113	broad.mit.edu	37	chr2	27354540	27354540	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgccccaatgactcacGccgtgagggcaacagatgca	11	15	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:27354540G>A	uc002rix.1	-	8	1412	c.1159_splice	c.e8+1	p.R387_splice	PREB_uc002riy.1_Splice_Site_p.R315_splice	NM_013388	NP_037520	Q9HCU5	PREB_HUMAN	Homo sapiens prolactin regulatory element binding (PREB), mRNA.	387					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGACTCACGCCGTGAGGGC	0.602													A	27354540	G	A	27354540	5	1	4	1	0	0	0	0	0	0	1	0	12470	1101	38	1	102	1	PREB	2	27354540	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	233035	27354540	215844833	428	2493											
SLC5A6	8884	broad.mit.edu	37	chr2	27428236	27428236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcaaacccagagatgcggCcgtgctgggaagccacggcc	13	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:27428236C>T	uc010eyv.1	-	7	1038	c.716G>A	c.(715-717)gGc>gAc	p.G239D	SLC5A6_uc002rjd.3_Missense_Mutation_p.G239D	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	239					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	AGAGATGCGGCCGTGCTGGGA	0.607													T	27428236	C	T	27428236	3	4	4	1	0	0	0	0	1	0	0	0	14669	739	26	2	1235	2	SLC5A6	2	27428236	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	73696	27428236	215771137	429	2494											
EIF2B4	8890	broad.mit.edu	37	chr2	27590383	27590383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgttaaggaacttgatggCgttgtgcatgctcgctgaca	12	8	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:27590383C>T	uc002rjz.3	-	7	925	c.886G>A	c.(886-888)Gcc>Acc	p.A296T	EIF2B4_uc002rka.3_Missense_Mutation_p.A261T|EIF2B4_uc002rkb.3_Missense_Mutation_p.A276T|EIF2B4_uc002rkc.3_Missense_Mutation_p.A275T|EIF2B4_uc002rke.3_Missense_Mutation_p.A245T|EIF2B4_uc002rkf.1_3'UTR|SNX17_uc010ylj.1_5'Flank	NM_172195	NP_751945	Q9UI10	EI2BD_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa (EIF2B4), transcript variant 1, mRNA.	276					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTTGATGGCGTTGTGCATG	0.483													T	27590383	C	T	27590383	3	4	4	1	0	0	0	0	1	0	0	0	5003	768	27	1	765	1	EIF2B4	2	27590383	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	162147	27590383	215608990	430	2495											
IFT172	26160	broad.mit.edu	37	chr2	27684350	27684350	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccatcagccactggtagTaactacgacgtagcttctcc	8	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:27684350T>C	uc002rku.3	-	21	2279	c.2228A>G	c.(2227-2229)tAc>tGc	p.Y743C		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	743					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CCACTGGTAGTAACTACGACG	0.572													C	27684350	T	C	27684350	3	2	4	1	0	0	0	0	1	0	0	0	7557	1638	57	3	3129	3	IFT172	2	27684350	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	93967	27684350	215515023	431	2496											
PPP1CB	5500	broad.mit.edu	37	chr2	29016803	29016803	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagccccaaattactgtggCgagtttgataatgctggtgg	12	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:29016803C>T	uc002rmg.3	+	7	979	c.819C>T	c.(817-819)ggC>ggT	p.G273G	PPP1CB_uc010ymj.2_Silent_p.G245G|PPP1CB_uc010yml.2_Silent_p.G245G|PPP1CB_uc002rmh.3_Silent_p.G273G|SPDYA_uc002rmi.3_5'UTR	NM_206876	NP_996759	P62140	PP1B_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, beta isozyme (PPP1CB), transcript variant 3, mRNA.	273					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|PTW/PP1 phosphatase complex|nucleolus	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					ATTACTGTGGCGAGTTTGATA	0.348													T	29016803	C	T	29016803	2	4	4	1	0	0	0	0	0	0	0	1	12350	755	27	1		1	PPP1CB	2	29016803	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1332453	29016803	214182570	432	2497											
FAM179A	165186	broad.mit.edu	37	chr2	29222106	29222106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaccgtcacagctcctgCgtggactcggacagctgggt	14	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:29222106C>T	uc010ezl.3	+	3	550	c.199C>T	c.(199-201)Cgt>Tgt	p.R67C	FAM179A_uc010ymm.2_Missense_Mutation_p.R67C	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	67							binding	p.R67L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACAGCTCCTGCGTGGACTCGG	0.617													T	29222106	C	T	29222106	3	4	4	1	0	0	0	0	1	0	0	0	5505	768	27	1	209	1	FAM179A	2	29222106	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	205303	29222106	213977267	433	2498											
XDH	7498	broad.mit.edu	37	chr2	31567583	31567583	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcagacaagctcactgtgTccatgtaggcagctgtgacc	12	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:31567583T>C	uc002rnv.1	-	30	3450	c.3371A>G	c.(3370-3372)gAc>gGc	p.D1124G		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1124					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.M1123I(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GCTCACTGTGTCCATGTAGGC	0.522													C	31567583	T	C	31567583	3	2	4	1	0	0	0	0	1	0	0	0	17423	1667	58	3	654	3	XDH	2	31567583	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	2345477	31567583	211631790	434	2499											
XDH	7498	broad.mit.edu	37	chr2	31610722	31610722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgggttggatccaggggCgtgaactcctctggtttgaa	14	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:31610722C>T	uc002rnv.1	-	7	685	c.606G>A	c.(604-606)acG>acA	p.T202T		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	202					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GATCCAGGGGCGTGAACTCCT	0.537													T	31610722	C	T	31610722	2	4	4	1	0	0	0	0	0	0	0	1	17423	755	27	1		1	XDH	2	31610722	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	43139	31610722	211588651	435	2500											
BIRC6	57448	broad.mit.edu	37	chr2	32678971	32678971	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcactttacttgtgtgTcaactagtgatggaaccaga	9	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:32678971T>C	uc010ezu.3	+	22	4848	c.4714T>C	c.(4714-4716)Tca>Cca	p.S1572P		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	1572					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TACTTGTGTGTCAACTAGTGA	0.373													C	32678971	T	C	32678971	3	2	4	1	0	0	0	0	1	0	0	0	1438	1667	58	3	4804	3	BIRC6	2	32678971	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1068249	32678971	210520402	436	2501											
BIRC6	57448	broad.mit.edu	37	chr2	32750576	32750576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtcagctacaccacctcGcccaccatccaggaggggga	11	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:32750576G>A	uc010ezu.3	+	58	11935	c.11801G>A	c.(11800-11802)cGc>cAc	p.R3934H		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	3934					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACACCACCTCGCCCACCATCC	0.443													A	32750576	G	A	32750576	3	1	4	1	0	0	0	0	1	0	0	0	1438	1087	38	1	12035	1	BIRC6	2	32750576	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	71605	32750576	210448797	437	2502											
BIRC6	57448	broad.mit.edu	37	chr2	32756560	32756560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagtttttgcaggaatggGtggactggctcttattgctg	13	6	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:32756560G>A	uc010ezu.3	+	60	12367	c.12233G>A	c.(12232-12234)gGt>gAt	p.G4078D	MIR558_uc021vfr.1_5'Flank	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4078					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GCAGGAATGGGTGGACTGGCT	0.408													A	32756560	G	A	32756560	3	1	4	1	0	0	0	0	1	0	0	0	1438	1261	44	4	12475	4	BIRC6	2	32756560	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5984	32756560	210442813	438	2503											
BIRC6	57448	broad.mit.edu	37	chr2	32836529	32836530	+	Frame_Shift_Ins	INS	-	-	T													tcaaggtaatacacaaacatINSttttacttgaaaagagttga							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:32836528_32836529A>AT	uc010ezu.3	+	72	14407_14408	c.14273_14274A>AT	c.(14272-14274)catfs	p.H4758fs		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4758					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATACACAAACATTTTTACTTGA	0.376													T	32836530	-	T	32836529	7	5	4	1	0	1	1	0	0	0	0	0	1438	1490	52	0	14564	0	BIRC6	2	32836529	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	79969	32836529	210362844	439	2504											
TTC27	55622	broad.mit.edu	37	chr2	32958941	32958941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactacatctgtattggaacGcctgaagattttctattgct	7	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:32958941G>A	uc002rom.3	+	10	1553	c.1280G>A	c.(1279-1281)cGc>cAc	p.R427H	TTC27_uc010ymx.2_Missense_Mutation_p.R377H	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	427							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GTATTGGAACGCCTGAAGATT	0.348													A	32958941	G	A	32958941	3	1	4	1	0	0	0	0	1	0	0	0	16692	1087	38	1	1322	1	TTC27	2	32958941	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	122412	32958941	210240432	440	2505											
LTBP1	4052	broad.mit.edu	37	chr2	33540323	33540323	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcaatctctgcagatggCcgtacgtgtgaaggtaagat	11	8	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:33540323C>T	uc021vft.1	+	23	3740	c.3717C>T	c.(3715-3717)ggC>ggT	p.G1239G	LTBP1_uc002rou.3_Silent_p.G913G|LTBP1_uc002rov.3_Silent_p.G860G|LTBP1_uc010ymz.2_Silent_p.G913G|LTBP1_uc010yna.2_Silent_p.G860G|LTBP1_uc010ynb.2_Silent_p.G179G	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1239	EGF-like 12; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGCAGATGGCCGTACGTGTG	0.448													T	33540323	C	T	33540323	2	4	4	1	0	0	0	0	0	0	0	1	9073	726	26	2		2	LTBP1	2	33540323	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	581382	33540323	209659050	441	2506											
CRIM1	51232	broad.mit.edu	37	chr2	36704131	36704131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgatgccaagggggcgttgCcatctgcttcaccgcccagt	12	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:36704131C>T	uc002rpd.3	+	5	1157	c.1091C>T	c.(1090-1092)gCc>gTc	p.A364V		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	364	VWFC 1.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GGGGGCGTTGCCATCTGCTTC	0.498													T	36704131	C	T	36704131	3	4	4	1	0	0	0	0	1	0	0	0	3873	739	26	2	1113	2	CRIM1	2	36704131	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3163808	36704131	206495242	442	2507											
CRIM1	51232	broad.mit.edu	37	chr2	36739513	36739513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttccagcaggacagtcacGgctgtcttatctgcaagtgc	11	11	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:36739513G>A	uc002rpd.3	+	9	1822	c.1756G>A	c.(1756-1758)Ggc>Agc	p.G586S		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	586	Antistasin-like 4.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	p.G586V(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GGACAGTCACGGCTGTCTTAT	0.522													A	36739513	G	A	36739513	3	1	4	1	0	0	0	0	1	0	0	0	3873	1116	39	1	1794	1	CRIM1	2	36739513	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	35382	36739513	206459860	443	2508											
CEBPZ	10153	broad.mit.edu	37	chr2	37430154	37430154	+	Splice_Site	DEL	A	A	-													ttttcttttttcttggccctAaaaaaaattgtaagtctaca							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:37430153_37430153TA>T	uc002rpz.3	-	14	2915	c.2885_splice	c.e14-1	p.G962_splice	LOC100505876_uc002rpy.2_3'UTR|LOC100505876_uc002rpx.2_3'UTR	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	962					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTCTTGGCCCTAAAAAAAATT	0.269													-	37430154	A	-	37430154	8	5	4	1	0	1	0	1	0	0	1	0	3204	377	13	0		0	CEBPZ	2	37430154	Splice_Site	DEL	A	TCGA-BR-4184-01A-01D-1126-08	690641	37430154	205769219	444	2509											
CEBPZ	10153	broad.mit.edu	37	chr2	37443454	37443461	+	Splice_Site	DEL	CATACCTT	CATACCTT	-													aataattcactaaatagaagCatacctttgcctttatgggg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:37443453_37443460GCATACCTT>G	uc002rpz.3	-	7	2341	c.2311_splice	c.e7+1	p.E771_splice		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	771					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				CTAAATAGAAGCATACCTTTGCCTTTAT	0.317													-	37443461	CATACCTT	-	37443454	8	5	4	1	0	1	0	1	0	0	1	0	3204	725	25	0		0	CEBPZ	2	37443454	Splice_Site	DEL	CATACCTT	TCGA-BR-4184-01A-01D-1126-08	13300	37443454	205755919	445	2510											
QPCT	25797	broad.mit.edu	37	chr2	37594392	37594392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagactgtttcagactccaaGccagatttgtcactccagct	7	13	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:37594392G>A	uc002rqg.3	+	3	686	c.564G>A	c.(562-564)aaG>aaA	p.K188K		NM_012413	NP_036545	Q16769	QPCT_HUMAN	Homo sapiens glutaminyl-peptide cyclotransferase (QPCT), mRNA.	188					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CAGACTCCAAGCCAGATTTGT	0.373													A	37594392	G	A	37594392	2	1	4	1	0	0	0	0	0	0	0	1	12874	962	34	2		2	QPCT	2	37594392	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	150938	37594392	205604981	446	2511											
THADA	63892	broad.mit.edu	37	chr2	43799004	43799004	+	Splice_Site	DEL	A	A	-													taatgtatctatccttacctAaaaaacatcaagcaataaaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:43799003_43799003TA>T	uc002rsw.4	-	13	2261	c.1909_splice	c.e13-1	p.V637_splice	THADA_uc010far.3_5'Flank|THADA_uc002rsx.4_Splice_Site_p.V637_splice|THADA_uc002rsy.4_Splice_Site|THADA_uc010fas.1_Splice_Site|THADA_uc002rsz.3_Splice_Site_p.V347_splice|THADA_uc010fat.1_5'Flank|THADA_uc002rta.2_Splice_Site_p.V347_splice|THADA_uc002rtb.1_Splice_Site_p.V637_splice|THADA_uc002rtc.4_Splice_Site_p.V637_splice|THADA_uc002rtd.3_Splice_Site_p.V637_splice	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	637							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATCCTTACCTAAAAAACATC	0.318													-	43799004	A	-	43799004	8	5	4	1	0	1	0	1	0	0	1	0	15837	377	13	0		0	THADA	2	43799004	Splice_Site	DEL	A	TCGA-BR-4184-01A-01D-1126-08	6204612	43799004	199400369	447	2512											
ABCG8	64241	broad.mit.edu	37	chr2	44101061	44101061	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctccttcatggatacagcCgccctcttgttcatgatcgg	8	14	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:44101061C>T	uc002rtq.3	+	8	1437	c.1347C>T	c.(1345-1347)gcC>gcT	p.A449A	ABCG8_uc010yoa.2_Silent_p.A448A	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	449	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGATACAGCCGCCCTCTTGT	0.552													T	44101061	C	T	44101061	2	4	4	1	0	0	0	0	0	0	0	1	72	639	23	1		1	ABCG8	2	44101061	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	302057	44101061	199098312	448	2513											
LRPPRC	10128	broad.mit.edu	37	chr2	44200831	44200831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaccttcctccttcacagcCttcattaaggcttttgccaa	4	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:44200831C>T	uc002rtr.2	-	10	1342	c.1284G>A	c.(1282-1284)aaG>aaA	p.K428K	LRPPRC_uc010yob.1_Silent_p.K328K	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	428					mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCTTCACAGCCTTCATTAAGG	0.383													T	44200831	C	T	44200831	2	4	4	1	0	0	0	0	0	0	0	1	8965	680	24	4		4	LRPPRC	2	44200831	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	99770	44200831	198998542	449	2514											
PPM1B	5495	broad.mit.edu	37	chr2	44428873	44428873	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaatccaagggaaaaggagCgaatccaaaatgcaggaggc	13	8	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:44428873C>T	uc002rtt.3	+	1	963	c.535C>T	c.(535-537)Cga>Tga	p.R179*	PPM1B_uc002rts.3_Nonsense_Mutation_p.R179*|PPM1B_uc002rtu.3_Nonsense_Mutation_p.R179*|PPM1B_uc002rtv.3_Intron|PPM1B_uc002rtw.3_Nonsense_Mutation_p.R179*|PPM1B_uc002rtx.3_Nonsense_Mutation_p.R179*	NM_002706	NP_002697	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.	179					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGAAAAGGAGCGAATCCAAAA	0.448													T	44428873	C	T	44428873	4	4	4	1	0	0	0	0	0	1	0	0	12336	760	27	1	537	1	PPM1B	2	44428873	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	228042	44428873	198770500	450	2515											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48809431	48809431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaacatggcctcattggcGcagaggtcatcctatgctgg	12	11	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:48809431G>A	uc002rwp.2	+	1	1773	c.1659G>A	c.(1657-1659)gcG>gcA	p.A553A	STON1-GTF2A1L_uc021vhf.1_Silent_p.A553A|STON1-GTF2A1L_uc002rwo.4_Silent_p.A553A|STON1-GTF2A1L_uc010fbm.3_Silent_p.A553A|STON1-GTF2A1L_uc010yol.2_Silent_p.A553A	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	553					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.A553A(3)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTCATTGGCGCAGAGGTCAT	0.478													A	48809431	G	A	48809431	2	1	4	1	0	0	0	0	0	0	0	1	15316	1074	38	1		1	STON1-GTF2A1L	2	48809431	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4380558	48809431	194389942	451	2516											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48873848	48873848	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttagaaaatgccaccagTgatatacttgtatctcctgg	7	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:48873848T>C	uc002rwp.2	+	7	2871	c.2757T>C	c.(2755-2757)agT>agC	p.S919S	STON1-GTF2A1L_uc021vhf.1_Silent_p.S919S|STON1-GTF2A1L_uc010yol.2_Silent_p.S872S|STON1-GTF2A1L_uc002rws.2_Silent_p.S215S|STON1-GTF2A1L_uc010yom.2_Silent_p.S181S	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	872					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATGCCACCAGTGATATACTTG	0.413													C	48873848	T	C	48873848	2	2	4	1	0	0	0	0	0	0	0	1	15316	1693	59	3		3	STON1-GTF2A1L	2	48873848	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	64417	48873848	194325525	452	2517											
FSHR	2492	broad.mit.edu	37	chr2	49189950	49189950	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggagctgaagagcagtgGccattccttggatgggtgtt	16	7	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:49189950G>A	uc002rww.3	-	9	2120	c.2010C>T	c.(2008-2010)ggC>ggT	p.G670G	FSHR_uc010fbn.3_Silent_p.G644G|FSHR_uc002rwx.3_Silent_p.G608G	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	670					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.G670G(2)|p.H671N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AAGAGCAGTGGCCATTCCTTG	0.438									Gonadal Dysgenesis, 46 XX				A	49189950	G	A	49189950	2	1	4	1	0	0	0	0	0	0	0	1	6073	1190	42	2		2	FSHR	2	49189950	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	316102	49189950	194009423	453	2518											
NRXN1	9378	broad.mit.edu	37	chr2	50463984	50463984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtccactcgcaccaatacGgcttctttctgaacagtgct	7	14	2	1	rs147580960		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:50463984G>A	uc021vhh.1	-	16	4410	c.3489C>T	c.(3487-3489)gcC>gcT	p.A1163A	NRXN1_uc010fbp.3_Silent_p.A128A|NRXN1_uc002rxb.4_Silent_p.A835A|NRXN1_uc021vhg.1_Silent_p.A1203A|NRXN1_uc021vhi.1_Silent_p.A1199A|NRXN1_uc021vhj.1_Silent_p.A1159A|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1163	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCACCAATACGGCTTCTTTCT	0.443													A	50463984	G	A	50463984	2	1	4	1	0	0	0	0	0	0	0	1	10665	1103	39	1		1	NRXN1	2	50463984	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1274034	50463984	192735389	454	2519											
NRXN1	9378	broad.mit.edu	37	chr2	50724782	50724782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggggacagaagaaagataCcgtcgttctgtgatgatgcc	14	7	1	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:50724782C>T	uc021vhh.1	-	12	3489	c.2568G>A	c.(2566-2568)cgG>cgA	p.R856R	NRXN1_uc002rxb.4_Silent_p.R528R|NRXN1_uc021vhg.1_Silent_p.R896R|NRXN1_uc021vhi.1_Silent_p.R892R|NRXN1_uc021vhj.1_Silent_p.R852R|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	856	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAGAAAGATACCGTCGTTCTG	0.398													T	50724782	C	T	50724782	2	4	4	1	0	0	0	0	0	0	0	1	10665	494	18	4		4	NRXN1	2	50724782	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	260798	50724782	192474591	455	2520											
NRXN1	9378	broad.mit.edu	37	chr2	50779924	50779924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtcttggcttgccatgGctaaataagatgaggccatt	11	7	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:50779924G>A	uc021vhh.1	-	7	2481	c.1560C>T	c.(1558-1560)agC>agT	p.S520S	NRXN1_uc002rxb.4_Silent_p.S192S|NRXN1_uc021vhg.1_Silent_p.S560S|NRXN1_uc021vhi.1_Silent_p.S556S|NRXN1_uc021vhj.1_Silent_p.S516S|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	520	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCTTGCCATGGCTAAATAAGA	0.443													A	50779924	G	A	50779924	2	1	4	1	0	0	0	0	0	0	0	1	10665	1194	42	2		2	NRXN1	2	50779924	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	55142	50779924	192419449	456	2521											
NRXN1	9378	broad.mit.edu	37	chr2	51254674	51254674	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccgcggaagccggttcgCgagcagtcgcacacggcctg	15	14	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:51254674C>T	uc021vhh.1	-	0	1659	c.738G>A	c.(736-738)tcG>tcA	p.S246S	NRXN1_uc021vhg.1_Silent_p.S246S|NRXN1_uc021vhi.1_Silent_p.S246S|NRXN1_uc021vhj.1_Silent_p.S246S|NRXN1_uc021vhk.1_Silent_p.S246S	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	246	EGF-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGCCGGTTCGCGAGCAGTCGC	0.756													T	51254674	C	T	51254674	2	4	4	1	0	0	0	0	0	0	0	1	10665	755	27	1		1	NRXN1	2	51254674	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	474750	51254674	191944699	457	2522											
NRXN1	9378	broad.mit.edu	37	chr2	51255287	51255287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgttccacttggggaagCgcgtccattggccctcggcg	15	13	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:51255287C>T	uc021vhh.1	-	0	1046	c.125G>A	c.(124-126)cGc>cAc	p.R42H	NRXN1_uc021vhg.1_Missense_Mutation_p.R42H|NRXN1_uc021vhi.1_Missense_Mutation_p.R42H|NRXN1_uc021vhj.1_Missense_Mutation_p.R42H|NRXN1_uc021vhk.1_Missense_Mutation_p.R42H	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	42	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTTGGGGAAGCGCGTCCATTG	0.672													T	51255287	C	T	51255287	3	4	4	1	0	0	0	0	1	0	0	0	10665	768	27	1	4873	1	NRXN1	2	51255287	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	613	51255287	191944086	458	2523											
CHAC2	494143	broad.mit.edu	37	chr2	53995031	53995031	+	Frame_Shift_Del	DEL	T	T	-													gagccgcgagaagatgtgggTttttggttacgggtccctga							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:53995031delT	uc002rxk.1	+	1	103	c.8delT	c.(7-9)GTTfs	p.V3fs	ASB3_uc002rxg.1_Intron|ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_Intron	NM_001008708	NP_001008708	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator-like 2	3											0			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AAGATGTGGGTTTTTGGTTAC	0.622											OREG0014616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	53995031	T	-	53995031	7	5	4	1	0	1	0	1	0	0	0	0	3309	1725	60	0	10	0	CHAC2	2	53995031	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	2739744	53995031	189204342	459	2524											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	4	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-BR-4184-01A-01D-1126-08	172109	54167140	189032233	460	2525											
MTIF2	4528	broad.mit.edu	37	chr2	55489457	55489457	+	Frame_Shift_Del	DEL	T	T	-													aaatatctgactcacctgtgTttttttccattgccctggcc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:55489456_55489456GT>G	uc002ryn.3	-	5	1064	c.327_327AC>C	c.(325-327)aacfs	p.N109fs	MTIF2_uc010yox.2_5'UTR|MTIF2_uc002ryo.3_Frame_Shift_Del_p.N109fs	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	109					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						ACTCACCTGTGTTTTTTTCCA	0.363													-	55489457	T	-	55489457	7	5	4	1	0	1	0	1	0	0	0	0	9934	1725	60	0	1905	0	MTIF2	2	55489457	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	1322317	55489457	187709916	461	2526											
MTIF2	4528	broad.mit.edu	37	chr2	55490845	55490845	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatctgttggccagggccaGgcacacagttgagctgtcca	12	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:55490845G>T	uc002ryn.3	-	4	887	c.150C>A	c.(148-150)gcC>gcA	p.A50A	MTIF2_uc010yox.2_5'UTR|MTIF2_uc002ryo.3_Silent_p.A50A|MTIF2_uc002ryp.1_Non-coding_Transcript	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	50					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						GCCAGGGCCAGGCACACAGTT	0.433													T	55490845	G	T	55490845	2	4	4	1	0	0	0	0	0	0	0	1	9934	987	35	5		5	MTIF2	2	55490845	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1388	55490845	187708528	462	2527											
SMEK2	57223	broad.mit.edu	37	chr2	55786066	55786066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgaagccaccaggagatgTccttttgggaaggttttcct	11	8	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:55786066T>C	uc002rzc.3	-	15	2991	c.2299A>G	c.(2299-2301)Aca>Gca	p.T767A	SMEK2_uc002rzb.3_Missense_Mutation_p.T682A|SMEK2_uc002rzd.3_Missense_Mutation_p.T735A|SMEK2_uc002ryz.3_Missense_Mutation_p.T194A|SMEK2_uc002rza.3_Missense_Mutation_p.T551A	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	767						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCAGGAGATGTCCTTTTGGGA	0.378													C	55786066	T	C	55786066	3	2	4	1	0	0	0	0	1	0	0	0	14794	1667	58	3	258	3	SMEK2	2	55786066	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	295221	55786066	187413307	463	2528											
EFEMP1	2202	broad.mit.edu	37	chr2	56098194	56098194	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggataacaacggaagccGccatgataattccaacacat	8	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:56098194G>A	uc002rzi.3	-	9	1566	c.1065C>T	c.(1063-1065)ggC>ggT	p.G355G	EFEMP1_uc002rzj.3_Silent_p.G355G|EFEMP1_uc010ypc.2_Silent_p.G217G	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	355	EGF-like 6; calcium-binding (Potential).|Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AACGGAAGCCGCCATGATAAT	0.388													A	56098194	G	A	56098194	2	1	4	1	0	0	0	0	0	0	0	1	4941	1074	38	1		1	EFEMP1	2	56098194	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	312128	56098194	187101179	464	2529											
FANCL	55120	broad.mit.edu	37	chr2	58459193	58459193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaacaccatatcaccttgCattcttcagttgtaaatctt	3	11	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:58459193C>T	uc002rzx.4	-	1	218	c.151G>A	c.(151-153)Gca>Aca	p.A51T	FANCL_uc002rzw.4_Missense_Mutation_p.A51T|FANCL_uc010fce.3_Missense_Mutation_p.A51T|FANCL_uc010fcf.1_Intron	NM_001114636	NP_001108108	Q9NW38	FANCL_HUMAN	Homo sapiens Fanconi anemia, complementation group L (FANCL), transcript variant 1, mRNA.	51					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						TATCACCTTGCATTCTTCAGT	0.363								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				T	58459193	C	T	58459193	3	4	4	1	0	0	0	0	1	0	0	0	5670	710	25	2	1043	2	FANCL	2	58459193	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2360999	58459193	184740180	465	2530											
PAPOLG	64895	broad.mit.edu	37	chr2	60997606	60997606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtaggctgtagaagatgCctttgtacctgttataaaat	9	5	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:60997606C>T	uc002sai.3	+	5	701	c.452C>T	c.(451-453)gCc>gTc	p.A151V	PAPOLG_uc002saj.3_5'UTR|PAPOLG_uc002sak.3_5'UTR	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA.	151					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			GTAGAAGATGCCTTTGTACCT	0.289													T	60997606	C	T	60997606	3	4	4	1	0	0	0	0	1	0	0	0	11431	739	26	2	474	2	PAPOLG	2	60997606	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2538413	60997606	182201767	466	2531											
PUS10	150962	broad.mit.edu	37	chr2	61188644	61188644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcaatttcaagaacagcGcatacagcctttggtgagtt	8	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:61188644G>A	uc010fci.3	-	9	888	c.828C>T	c.(826-828)tgC>tgT	p.C276C	PUS10_uc002sao.3_Silent_p.C276C|PUS10_uc010ypk.2_Silent_p.C53C	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	Homo sapiens pseudouridylate synthase 10 (PUS10), mRNA.	276					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			CAAGAACAGCGCATACAGCCT	0.348													A	61188644	G	A	61188644	2	1	4	1	0	0	0	0	0	0	0	1	12831	1079	38	1		1	PUS10	2	61188644	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	191038	61188644	182010729	467	2532											
PUS10	150962	broad.mit.edu	37	chr2	61192233	61192233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaacaatctgggcatatcGcagctctaaaataaaattca	5	8	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:61192233G>A	uc010fci.3	-	7	743	c.683C>T	c.(682-684)gCg>gTg	p.A228V	PUS10_uc002sao.3_Missense_Mutation_p.A228V|PUS10_uc010ypk.2_Missense_Mutation_p.A5V	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	Homo sapiens pseudouridylate synthase 10 (PUS10), mRNA.	228					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TGGGCATATCGCAGCTCTAAA	0.328													A	61192233	G	A	61192233	3	1	4	1	0	0	0	0	1	0	0	0	12831	1087	38	1	950	1	PUS10	2	61192233	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3589	61192233	182007140	468	2533											
PUS10	150962	broad.mit.edu	37	chr2	61198669	61198669	+	Frame_Shift_Del	DEL	T	T	-													attacttaccccatttcctgTtttaccagcaaccatgcagc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:61198668_61198668GT>G	uc010fci.3	-	4	553	c.493_493AC>C	c.(493-495)cagfs	p.Q165fs	PUS10_uc002sao.3_Frame_Shift_Del_p.Q165fs|PUS10_uc010ypk.2_5'UTR	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	Homo sapiens pseudouridylate synthase 10 (PUS10), mRNA.	165					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			CCCATTTCCTGTTTTACCAGC	0.358													-	61198669	T	-	61198669	7	5	4	1	0	1	0	1	0	0	0	0	12831	1722	60	0	1153	0	PUS10	2	61198669	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	6436	61198669	182000704	469	2534											
USP34	9736	broad.mit.edu	37	chr2	61415812	61415812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcatcactgctaacacGccgccttttaatgggagttg	8	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:61415812G>A	uc002sbe.3	-	79	10088	c.10066C>T	c.(10066-10068)Cgt>Tgt	p.R3356C	USP34_uc002sbd.3_Missense_Mutation_p.R158C	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	3356					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R3356P(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTGCTAACACGCCGCCTTTTA	0.478													A	61415812	G	A	61415812	3	1	4	1	0	0	0	0	1	0	0	0	17062	1087	38	1	578	1	USP34	2	61415812	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	217143	61415812	181783561	470	2535											
USP34	9736	broad.mit.edu	37	chr2	61447484	61447484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgtgagccaaaagaaaccGctcgacccagttttccatat	7	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:61447484G>A	uc002sbe.3	-	66	8030	c.8008C>T	c.(8008-8010)Cgg>Tgg	p.R2670W		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	2670					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AAAAGAAACCGCTCGACCCAG	0.378													A	61447484	G	A	61447484	3	1	4	1	0	0	0	0	1	0	0	0	17062	1086	38	1	2688	1	USP34	2	61447484	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	31672	61447484	181751889	471	2536											
USP34	9736	broad.mit.edu	37	chr2	61575222	61575222	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacaagcatccagcattcGcattcgattatctactgatg	7	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:61575222G>A	uc002sbe.3	-	14	2090	c.2068C>T	c.(2068-2070)Cga>Tga	p.R690*		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	690					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCCAGCATTCGCATTCGATTA	0.443													A	61575222	G	A	61575222	4	1	4	1	0	0	0	0	0	1	0	0	17062	1095	38	1	8836	1	USP34	2	61575222	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	127738	61575222	181624151	472	2537											
USP34	9736	broad.mit.edu	37	chr2	61597500	61597500	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatgttgagtactcagtcGcccttctgctgccaaaaaat	7	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:61597500G>A	uc002sbe.3	-	9	1229	c.1207C>T	c.(1207-1209)Cga>Tga	p.R403*		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	403					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTACTCAGTCGCCCTTCTGCT	0.333													A	61597500	G	A	61597500	4	1	4	1	0	0	0	0	0	1	0	0	17062	1095	38	1	9717	1	USP34	2	61597500	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	22278	61597500	181601873	473	2538											
VPS54	51542	broad.mit.edu	37	chr2	64144047	64144047	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactcacccaacaactgcatActgttgtccctcgacaataa	4	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:64144047A>G	uc002scq.3	-	15	2378	c.2215T>C	c.(2215-2217)Tat>Cat	p.Y739H	VPS54_uc002scp.3_Missense_Mutation_p.Y727H|VPS54_uc002scn.3_5'UTR|VPS54_uc002sco.3_Missense_Mutation_p.Y224H|VPS54_uc010fct.3_Missense_Mutation_p.Y586H	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.	739					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						ACAACTGCATACTGTTGTCCC	0.378													G	64144047	A	G	64144047	3	3	4	1	0	0	0	0	1	0	0	0	17213	391	14	3	750	3	VPS54	2	64144047	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	2546547	64144047	179055326	474	2539											
SPRED2	200734	broad.mit.edu	37	chr2	65540766	65540766	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aataagagccatccaccggaGgcaaaacttctcgtcgctag	9	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:65540766G>T	uc002sdr.4	-	5	1661	c.1126C>A	c.(1126-1128)Ctc>Atc	p.L376I	SPRED2_uc010fcw.3_Missense_Mutation_p.L373I	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA.	376	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						ATCCACCGGAGGCAAAACTTC	0.572													T	65540766	G	T	65540766	3	4	4	1	0	0	0	0	1	0	0	0	15092	1000	35	5	134	5	SPRED2	2	65540766	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1396719	65540766	177658607	475	2540											
PROKR1	10887	broad.mit.edu	37	chr2	68882118	68882118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgatcgccatcccttccGcctacttcaccaccgagacg	6	19	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:68882118G>A	uc010yqj.2	+	1	752	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	198						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.A198V(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CATCCCTTCCGCCTACTTCAC	0.567													A	68882118	G	A	68882118	3	1	4	1	0	0	0	0	1	0	0	0	12552	1087	38	1	598	1	PROKR1	2	68882118	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3341352	68882118	174317255	476	2541											
AAK1	22848	broad.mit.edu	37	chr2	69870045	69870045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtccactgtgacctgctgtCgcccgatgccgaagactctt	10	15	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:69870045C>T	uc002sfp.2	-	1	633	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	AAK1_uc010fdk.2_Missense_Mutation_p.R43Q|AAK1_uc010yqm.1_Missense_Mutation_p.R43Q|AAK1_uc010fdm.1_Missense_Mutation_p.R43Q	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	Homo sapiens AP2 associated kinase 1 (AAK1), mRNA.	43						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GACCTGCTGTCGCCCGATGCC	0.622													T	69870045	C	T	69870045	3	4	4	1	0	0	0	0	1	0	0	0	16	884	31	1	2841	1	AAK1	2	69870045	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	987927	69870045	173329328	477	2542											
TGFA	7039	broad.mit.edu	37	chr2	70692857	70692857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacaccactgctgcagccaCgggcgggtctgctggggaga	17	12	1	1	rs147786817	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:70692857C>T	uc002sgs.4	-	2	354	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	TGFA_uc010fdq.3_Missense_Mutation_p.V42M|TGFA_uc010fdr.3_Missense_Mutation_p.V41M|TGFA_uc002sgt.4_Missense_Mutation_p.V35M|TGFA_uc002sgu.3_Missense_Mutation_p.V35M|TGFA_uc002sgv.3_Missense_Mutation_p.V36M|TGFA_uc002sgw.3_Missense_Mutation_p.V35M	NM_003236	NP_003227	P01135	TGFA_HUMAN	Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.	36					activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	MAP kinase kinase activity|epidermal growth factor receptor binding|growth factor activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						GCTGCAGCCACGGGCGGGTCT	0.567													T	70692857	C	T	70692857	3	4	4	1	0	0	0	0	1	0	0	0	15812	536	19	1	392	1	TGFA	2	70692857	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	822812	70692857	172506516	478	2543											
ADD2	119	broad.mit.edu	37	chr2	70933382	70933382	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcaggatcatggtgacGcgcttcttctgctccatcag	10	13	5	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:70933382G>A	uc021vjc.1	-	2	424	c.159C>T	c.(157-159)cgC>cgT	p.R53R	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Silent_p.R53R|ADD2_uc002sgz.3_Silent_p.R53R|ADD2_uc010fdt.2_Silent_p.R53R|ADD2_uc002shc.2_Silent_p.R53R|ADD2_uc010fdu.2_Silent_p.R69R	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	53					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TCATGGTGACGCGCTTCTTCT	0.647													A	70933382	G	A	70933382	2	1	4	1	0	0	0	0	0	0	0	1	305	1074	38	1		1	ADD2	2	70933382	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	240525	70933382	172265991	479	2544											
CLEC4F	165530	broad.mit.edu	37	chr2	71036887	71036887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacgctttgttctgggcggCgttgaatggtgtcccatctg	13	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:71036887C>T	uc002shf.3	-	5	1719	c.1642G>A	c.(1642-1644)Gcc>Acc	p.A548T	CLEC4F_uc010yqv.1_Missense_Mutation_p.A548T	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	548	C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TTCTGGGCGGCGTTGAATGGT	0.547													T	71036887	C	T	71036887	3	4	4	1	0	0	0	0	1	0	0	0	3516	768	27	1	135	1	CLEC4F	2	71036887	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	103505	71036887	172162486	480	2545											
ATP6V1B1	525	broad.mit.edu	37	chr2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-													tttcttctccctcagatctaCccccccatcaacgtgctccc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:71191572_71191572AC>A	uc002shj.3	+	11	1235	c.1148_1148AC>A	c.(1147-1149)tacfs	p.Y383fs	ATP6V1B1_uc010fdx.3_Frame_Shift_Del_p.Y341fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	383					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATC	0.542											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	71191573	C	-	71191573	7	5	4	1	0	1	0	1	0	0	0	0	1178	518	18	0	1195	0	ATP6V1B1	2	71191573	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	154686	71191573	172007800	481	2546											
NAGK	55577	broad.mit.edu	37	chr2	71298926	71298926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttaatcaccaccgatgcCgccggctccatcgccacagc	7	18	1	0	rs11539622	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:71298926C>T	uc002shr.3	+	2	2147	c.171C>T	c.(169-171)gcC>gcT	p.A57A	NAGK_uc002shp.4_Silent_p.A154A|NAGK_uc002shq.4_5'UTR			Q9UJ70	NAGK_HUMAN	Homo sapiens N-acetylglucosamine kinase (NAGK), mRNA.	108					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	CCACCGATGCCGCCGGCTCCA	0.572													T	71298926	C	T	71298926	2	4	4	1	0	0	0	0	0	0	0	1	10142	639	23	1		1	NAGK	2	71298926	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	107353	71298926	171900447	482	2547											
ZNF638	27332	broad.mit.edu	37	chr2	71627611	71627611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttattttgtattaagatgCtgctttggaggccacagaga	10	5	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:71627611C>T	uc002shx.3	+	14	2983	c.2660C>T	c.(2659-2661)gCt>gTt	p.A887V	ZNF638_uc010yqw.1_Missense_Mutation_p.A466V|ZNF638_uc002shz.3_Missense_Mutation_p.A887V|ZNF638_uc002shy.3_Missense_Mutation_p.A887V|ZNF638_uc002sia.3_Missense_Mutation_p.A887V|ZNF638_uc002sib.1_Missense_Mutation_p.A887V|ZNF638_uc002sic.3_5'UTR	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	887					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TATTAAGATGCTGCTTTGGAG	0.299													T	71627611	C	T	71627611	3	4	4	1	0	0	0	0	1	0	0	0	18052	797	28	2	2714	2	ZNF638	2	71627611	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	328685	71627611	171571762	483	2548											
CCT7	10574	broad.mit.edu	37	chr2	73478490	73478490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccttggagattatcccacGccagctgtgtgacaatgctg	12	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:73478490G>A	uc002siz.3	+	10	1483	c.1340G>A	c.(1339-1341)cGc>cAc	p.R447H	CCT7_uc010yrf.2_Missense_Mutation_p.R403H|CCT7_uc010yrh.2_Missense_Mutation_p.R319H|CCT7_uc010yrg.2_Missense_Mutation_p.R347H|CCT7_uc010yri.2_Missense_Mutation_p.R360H|CCT7_uc002sja.3_Missense_Mutation_p.R243H	NM_006429	NP_001159757	Q99832	TCPH_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 7 (eta) (CCT7), transcript variant 1, mRNA.	447					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						ATTATCCCACGCCAGCTGTGT	0.537													A	73478490	G	A	73478490	3	1	4	1	0	0	0	0	1	0	0	0	2959	1087	38	1	1382	1	CCT7	2	73478490	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1850879	73478490	169720883	484	2549											
EGR4	1961	broad.mit.edu	37	chr2	73518781	73518781	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcgtggtgaggtggtcgCtgcggctgaagttgcggagg	21	7	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:73518781C>A	uc010yrj.2	-	1	1649	c.1574G>T	c.(1573-1575)aGc>aTc	p.S525I	EGR4_uc010yrk.1_Missense_Mutation_p.S524I	NM_001965	NP_001956	B7ZKU3	B7ZKU3_HUMAN	Homo sapiens early growth response 4 (EGR4), mRNA.	421						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GAGGTGGTCGCTGCGGCTGAA	0.662													A	73518781	C	A	73518781	3	1	4	1	0	0	0	0	1	0	0	0	4974	797	28	5	199	5	EGR4	2	73518781	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	40291	73518781	169680592	485	2550											
EGR4	1961	broad.mit.edu	37	chr2	73519457	73519457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccttgaaggcagagacagCgtccagcgctggcgaggcgg	16	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:73519457C>T	uc010yrj.2	-	1	973	c.898G>A	c.(898-900)Gct>Act	p.A300T	EGR4_uc010yrk.1_Missense_Mutation_p.A299T	NM_001965	NP_001956	B7ZKU3	B7ZKU3_HUMAN	Homo sapiens early growth response 4 (EGR4), mRNA.	196						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCAGAGACAGCGTCCAGCGCT	0.711													T	73519457	C	T	73519457	3	4	4	1	0	0	0	0	1	0	0	0	4974	768	27	1	875	1	EGR4	2	73519457	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	676	73519457	169679916	486	2551											
ALMS1	7840	broad.mit.edu	37	chr2	73717261	73717261	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcaccgacattctaaatgCatttccaattcctctgttgt	4	12	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:73717261C>T	uc002sje.1	+	9	8283	c.8172C>T	c.(8170-8172)tgC>tgT	p.C2724C	ALMS1_uc002sjf.1_Silent_p.C2682C|ALMS1_uc002sjg.3_Silent_p.C2112C|ALMS1_uc002sjh.1_Silent_p.C2112C	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2724					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATTCTAAATGCATTTCCAATT	0.398													T	73717261	C	T	73717261	2	4	4	1	0	0	0	0	0	0	0	1	535	718	25	2		2	ALMS1	2	73717261	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	197804	73717261	169482112	487	2552											
DUSP11	8446	broad.mit.edu	37	chr2	73993685	73993686	+	Frame_Shift_Ins	INS	-	-	A													tgagatgtgctgagtcttcaINSaaatcacttgacctgggtac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:73993684_73993685C>CA	uc002sjp.3	-	7	837_838	c.795_796G>TG	c.(793-798)tttgaafs	p.F265fs		NM_003584	NP_003575	O75319	DUS11_HUMAN	Homo sapiens dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) (DUSP11), mRNA.	218					RNA processing	nucleus	RNA binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						GCTGAGTCTTCAAAATCACTTG	0.396													A	73993686	-	A	73993685	7	5	4	1	0	1	1	0	0	0	0	0	4811	127	5	0	346	0	DUSP11	2	73993685	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	276424	73993685	169205688	488	2553											
ACTG2	72	broad.mit.edu	37	chr2	74136221	74136221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtccctgccatgtacgtcGccattcaagctgtgctctcc	8	15	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:74136221G>A	uc002sjw.3	+	4	528	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	ACTG2_uc010yrn.2_Missense_Mutation_p.A93T|ACTG2_uc010fey.3_Missense_Mutation_p.A136T	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	136					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						CATGTACGTCGCCATTCAAGC	0.453													A	74136221	G	A	74136221	3	1	4	1	0	0	0	0	1	0	0	0	197	1087	38	1	420	1	ACTG2	2	74136221	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	142536	74136221	169063152	489	2554											
TET3	200424	broad.mit.edu	37	chr2	74317033	74317033	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgttgcagccggacctgCgcttgccaaggcaaagaccc	13	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:74317033C>T	uc002skb.4	+	4	2493	c.2493C>T	c.(2491-2493)tgC>tgT	p.C831C		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	831							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCGGACCTGCGCTTGCCAAG	0.557													T	74317033	C	T	74317033	2	4	4	1	0	0	0	0	0	0	0	1	15768	776	27	1		1	TET3	2	74317033	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	180812	74317033	168882340	490	2555											
DCTN1	1639	broad.mit.edu	37	chr2	74593377	74593377	+	Frame_Shift_Del	DEL	G	G	-													aaatctccacctaccttgctGgggggccgctctgcatcata							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:74593376_74593376TG>T	uc002skx.3	-	22	3073	c.2755_2755CA>A	c.(2755-2757)agcfs	p.S919fs	SLC4A5_uc002skl.3_5'Flank|DCTN1_uc002skt.2_5'Flank|DCTN1_uc002skv.3_Frame_Shift_Del_p.S785fs|DCTN1_uc002sku.3_Frame_Shift_Del_p.S785fs|DCTN1_uc002skw.2_Frame_Shift_Del_p.S912fs|DCTN1_uc010ffd.3_Frame_Shift_Del_p.S899fs|DCTN1_uc002sky.3_Frame_Shift_Del_p.S882fs	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	919					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTACCTTGCTGGGGGGCCGC	0.557													-	74593377	G	-	74593377	7	5	4	1	0	1	0	1	0	0	0	0	4306	1335	47	0	1122	0	DCTN1	2	74593377	Frame_Shift_Del	DEL	G	TCGA-BR-4184-01A-01D-1126-08	276344	74593377	168605996	491	2556											
WDR54	84058	broad.mit.edu	37	chr2	74650623	74650624	+	Frame_Shift_Ins	INS	-	-	G													gtacaggctgtgtttgcccgINSgggaattgctgccagtggcc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:74650622_74650623C>CG	uc002slb.3	+	4	430_431	c.370_371C>CG	c.(370-372)cggfs	p.R124fs		NM_032118	NP_115494	Q9H977	WDR54_HUMAN	Homo sapiens WD repeat domain 54 (WDR54), mRNA.	124										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						TGTGTTTGCCCGGGGAATTGCT	0.579													G	74650624	-	G	74650623	7	5	4	1	0	1	1	0	0	0	0	0	17303	1116	39	0	385	0	WDR54	2	74650623	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	57246	74650623	168548750	492	2557											
MOGS	7841	broad.mit.edu	37	chr2	74688835	74688835	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcagcagcaagggaaaaAgactgacatagccaagagca	12	9	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:74688835A>G	uc010ffj.3	-	3	2244	c.2081T>C	c.(2080-2082)cTt>cCt	p.L694P	MOGS_uc010ffh.3_Missense_Mutation_p.L419P|MOGS_uc010yrt.2_Missense_Mutation_p.L575P|MOGS_uc010ffi.3_Missense_Mutation_p.L588P	NM_006302	NP_001139630	Q13724	MOGS_HUMAN	Homo sapiens mannosyl-oligosaccharide glucosidase (MOGS), transcript variant 1, mRNA.	694					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CAAGGGAAAAAGACTGACATA	0.617													G	74688835	A	G	74688835	3	3	4	1	0	0	0	0	1	0	0	0	9697	72	3	3	436	3	MOGS	2	74688835	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	38212	74688835	168510538	493	2558											
HK2	3099	broad.mit.edu	37	chr2	75116443	75116443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagagcacctgtgacgacaGcatcattgttaaggaggtgt	13	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:75116443G>A	uc002snd.3	+	16	4373	c.2447G>A	c.(2446-2448)aGc>aAc	p.S816N		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	816	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TGTGACGACAGCATCATTGTT	0.612													A	75116443	G	A	75116443	3	1	4	1	0	0	0	0	1	0	0	0	7191	971	34	2	2513	2	HK2	2	75116443	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	427608	75116443	168082930	494	2559											
LRRTM1	347730	broad.mit.edu	37	chr2	80530493	80530493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagaggtcgggcgcgagcGcctgcagcttgttgtacgag	18	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:80530493G>A	uc021vjt.1	-	0	452	c.452C>T	c.(451-453)gCg>gTg	p.A151V	CTNNA2_uc010yse.2_Intron|CTNNA2_uc010ysf.2_Intron|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysh.2_Intron|CTNNA2_uc010ysi.2_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript|LRRTM1_uc002sok.1_Missense_Mutation_p.A151V	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 1 (LRRTM1), mRNA.	151						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGGCGCGAGCGCCTGCAGCTT	0.637										HNSCC(69;0.2)			A	80530493	G	A	80530493	3	1	4	1	0	0	0	0	1	0	0	0	9039	1087	38	1	1120	1	LRRTM1	2	80530493	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5414050	80530493	162668880	495	2560											
KCMF1	56888	broad.mit.edu	37	chr2	85276640	85276640	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcaacaactggagaccgcAcgcaacgcaacccggcgtac	11	16	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:85276640A>G	uc002sox.4	+	5	1097	c.753A>G	c.(751-753)gcA>gcG	p.A251A		NM_020122	NP_064507	Q9P0J7	KCMF1_HUMAN	Homo sapiens potassium channel modulatory factor 1 (KCMF1), mRNA.	251						intracellular	ligase activity|zinc ion binding			ovary(3)	3						TGGAGACCGCACGCAACGCAA	0.527													G	85276640	A	G	85276640	2	3	4	1	0	0	0	0	0	0	0	1	8000	146	6	3		3	KCMF1	2	85276640	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	4746147	85276640	157922733	496	2561											
RETSAT	54884	broad.mit.edu	37	chr2	85578103	85578103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctggtccaagataaaacGgccaatgctgccctcttcca	8	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:85578103G>A	uc002spd.3	-	2	588	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C	RETSAT_uc010fge.3_Non-coding_Transcript|RETSAT_uc010ysm.2_Missense_Mutation_p.R72C	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	133					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	AAGATAAAACGGCCAATGCTG	0.517													A	85578103	G	A	85578103	3	1	4	1	0	0	0	0	1	0	0	0	13238	1116	39	1	1471	1	RETSAT	2	85578103	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	301463	85578103	157621270	497	2562											
KDM3A	55818	broad.mit.edu	37	chr2	86677062	86677062	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcacctgaaatttctgaaCgaattgtacagtggcctgca	9	9	2	2	rs150111816		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:86677062C>T	uc002sri.4	+	2	646	c.319C>T	c.(319-321)Cga>Tga	p.R107*	KDM3A_uc010ytj.2_Nonsense_Mutation_p.R107*|KDM3A_uc010ytk.2_Intron	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA.	107					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						AATTTCTGAACGAATTGTACA	0.373													T	86677062	C	T	86677062	4	4	4	1	0	0	0	0	0	1	0	0	8126	528	19	1	325	1	KDM3A	2	86677062	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1098959	86677062	156522311	498	2563											
KDM3A	55818	broad.mit.edu	37	chr2	86705832	86705832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattcaaactcttttcaaagCcagcctcaaaggaagaccta	5	11	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:86705832C>T	uc002sri.4	+	14	2617	c.2290C>T	c.(2290-2292)Cca>Tca	p.P764S	KDM3A_uc010ytj.2_Missense_Mutation_p.P764S|KDM3A_uc010ytk.2_Missense_Mutation_p.P712S	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA.	764					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CTTTTCAAAGCCAGCCTCAAA	0.363													T	86705832	C	T	86705832	3	4	4	1	0	0	0	0	1	0	0	0	8126	739	26	2	2344	2	KDM3A	2	86705832	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	28770	86705832	156493541	499	2564											
THNSL2	55258	broad.mit.edu	37	chr2	88474827	88474827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcaaggggcaaagaacatgGacattatcgttctgctgccc	10	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:88474827G>A	uc002ssy.4	+	2	2169	c.478G>A	c.(478-480)Gac>Aac	p.D160N	THNSL2_uc002ssw.4_Missense_Mutation_p.D160N|THNSL2_uc002sta.4_Missense_Mutation_p.D2N|THNSL2_uc010fhe.3_Missense_Mutation_p.D2N|THNSL2_uc021vkq.1_Missense_Mutation_p.D160N|THNSL2_uc021vkr.1_Missense_Mutation_p.D160N	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA.	160					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AAAGAACATGGACATTATCGT	0.493													A	88474827	G	A	88474827	3	1	4	1	0	0	0	0	1	0	0	0	15860	1174	41	4	488	4	THNSL2	2	88474827	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1768995	88474827	154724546	500	2565											
FAHD2A	51011	broad.mit.edu	37	chr2	96072853	96072853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatcttcagcaagtttgCcagctccatcgtggggccct	9	14	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:96072853C>T	uc002sur.3	+	2	589	c.410C>T	c.(409-411)gCc>gTc	p.A137V		NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN	Homo sapiens fumarylacetoacetate hydrolase domain containing 2A (FAHD2A), mRNA.	137							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						AGCAAGTTTGCCAGCTCCATC	0.577													T	96072853	C	T	96072853	3	4	4	1	0	0	0	0	1	0	0	0	5373	739	26	2	416	2	FAHD2A	2	96072853	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	7598026	96072853	147126520	501	2566											
STARD7	56910	broad.mit.edu	37	chr2	96858204	96858204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacactcggatgctccacaGcactggtaaggaggaaagga	13	10	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:96858204G>A	uc002svm.4	-	5	1147	c.746C>T	c.(745-747)gCt>gTt	p.A249V	STARD7_uc002svl.3_Missense_Mutation_p.A27V	NM_020151	NP_064536	Q9NQZ5	STAR7_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 7 (STARD7), mRNA.	249	START.					mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						ATGCTCCACAGCACTGGTAAG	0.453													A	96858204	G	A	96858204	3	1	4	1	0	0	0	0	1	0	0	0	15261	971	34	2	378	2	STARD7	2	96858204	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	785351	96858204	146341169	502	2567											
ITPRIPL1	150771	broad.mit.edu	37	chr2	96992605	96992605	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagaacttctggacaggagAcacatccagtgaccagttag	11	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:96992605A>G	uc002svy.3	+	0	671	c.260A>G	c.(259-261)gAc>gGc	p.D87G	ITPRIPL1_uc002svx.3_Missense_Mutation_p.D79G|ITPRIPL1_uc010yuk.2_Missense_Mutation_p.D71G|ITPRIPL1_uc010yul.2_Missense_Mutation_p.D71G	NM_178495	NP_001156996	Q6GPH6	IPIL1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 1 (ITPRIPL1), transcript variant 1, mRNA.	79						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGACAGGAGACACATCCAGT	0.572													G	96992605	A	G	96992605	3	3	4	1	0	0	0	0	1	0	0	0	7924	275	10	3	276	3	ITPRIPL1	2	96992605	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	134401	96992605	146206768	503	2568											
NCAPH	23397	broad.mit.edu	37	chr2	97024926	97024926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcgctttaggcctcgacGcaaacgtatgtaattctagg	11	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:97024926G>A	uc002svz.1	+	9	1436	c.1352G>A	c.(1351-1353)cGc>cAc	p.R451H	NCAPH_uc010fhu.1_Missense_Mutation_p.R427H|NCAPH_uc010fhv.1_Missense_Mutation_p.R440H|NCAPH_uc010yum.1_Missense_Mutation_p.R427H|NCAPH_uc010yun.1_Missense_Mutation_p.R315H	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	451					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AGGCCTCGACGCAAACGTATG	0.483													A	97024926	G	A	97024926	3	1	4	1	0	0	0	0	1	0	0	0	10209	1087	38	1	1390	1	NCAPH	2	97024926	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	32321	97024926	146174447	504	2569											
FER1L5	90342	broad.mit.edu	37	chr2	97364841	97364841	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggcaaccgggacatgtaCcagcccaacactctggatcc	9	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:97364841C>T	uc010fia.3	+	40	4659	c.4659C>T	c.(4657-4659)taC>taT	p.Y1553Y	FER1L5_uc002sws.4_Silent_p.Y271Y|FER1L5_uc010fib.1_Non-coding_Transcript|FER1L5_uc010yus.2_Silent_p.Y270Y	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	1553	C2 5.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GGGACATGTACCAGCCCAACA	0.567													T	97364841	C	T	97364841	2	4	4	1	0	0	0	0	0	0	0	1	5814	518	18	4		4	FER1L5	2	97364841	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	339915	97364841	145834532	505	2570											
FER1L5	90342	broad.mit.edu	37	chr2	97369074	97369074	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcgatggtggcaaatgGcgcttgtcggtaggagctgg	17	8	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:97369074G>A	uc010fia.3	+	48	5790	c.5790G>A	c.(5788-5790)tgG>tgA	p.W1930*	FER1L5_uc002sws.4_Nonsense_Mutation_p.W639*|FER1L5_uc010yus.2_Nonsense_Mutation_p.W638*	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	1930						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GTGGCAAATGGCGCTTGTCGG	0.517													A	97369074	G	A	97369074	4	1	4	1	0	0	0	0	0	1	0	0	5814	1212	42	2	5984	2	FER1L5	2	97369074	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4233	97369074	145830299	506	2571											
FER1L5	90342	broad.mit.edu	37	chr2	97369993	97369993	+	Frame_Shift_Del	DEL	A	A	-													gtggctgcggtcaccagttcAaaacttctgctatattttct							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:97369992_97369992CA>C	uc010fia.3	+	50	5950	c.5950_5950CA>C	c.(5950-5952)caafs	p.Q1984fs	FER1L5_uc002sws.4_Frame_Shift_Del_p.Q693fs|FER1L5_uc010yus.2_Frame_Shift_Del_p.Q692fs	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	1984						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GTCACCAGTTCAAAACTTCTG	0.448													-	97369993	A	-	97369993	7	5	4	1	0	1	0	1	0	0	0	0	5814	130	5	0	6153	0	FER1L5	2	97369993	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	919	97369993	145829380	507	2572											
LIPT1	51601	broad.mit.edu	37	chr2	99778541	99778541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagtcaatttccaatgatGtctatcaaaatctggctgtg	7	8	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:99778541G>A	uc002szp.4	+	2	282	c.244G>A	c.(244-246)Gtc>Atc	p.V82I	MRPL30_uc002szl.1_Intron|LIPT1_uc002szm.4_Missense_Mutation_p.V41I|LIPT1_uc002szn.4_Missense_Mutation_p.V41I|LIPT1_uc002szo.4_Missense_Mutation_p.V41I|LIPT1_uc002szq.4_Missense_Mutation_p.V41I|MRPL30_uc002szr.3_Intron|LIPT1_uc021vln.1_Missense_Mutation_p.V41I|LIPT1_uc021vlo.1_Missense_Mutation_p.V41I|LIPT1_uc021vlp.1_Missense_Mutation_p.V41I	NM_145199	NP_660200	Q9Y234	LIPT_HUMAN	Homo sapiens lipoyltransferase 1 (LIPT1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	41					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	TTCCAATGATGTCTATCAAAA	0.388													A	99778541	G	A	99778541	3	1	4	1	0	0	0	0	1	0	0	0	8829	1377	48	4	123	4	LIPT1	2	99778541	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2408548	99778541	143420832	508	2573											
EIF5B	9669	broad.mit.edu	37	chr2	99977650	99977650	+	Frame_Shift_Del	DEL	A	A	-													aggaattcacctcaaaagatAaaaaaaagaaaggacagaag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:99977649_99977649TA>T	uc002tab.3	+	3	469	c.285_285TA>T	c.(283-285)gatfs	p.D95fs		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	95	Poly-Lys.				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTCAAAAGATAAAAAAAAGA	0.303													-	99977650	A	-	99977650	7	5	4	1	0	1	0	1	0	0	0	0	5044	363	13	0	300	0	EIF5B	2	99977650	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	199109	99977650	143221723	509	2574											
EIF5B	9669	broad.mit.edu	37	chr2	99978220	99978220	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaactgtaaaatccaaagtgActgttgatactggagtaatt	8	5	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:99978220A>T	uc002tab.3	+	3	1040	c.856A>T	c.(856-858)Act>Tct	p.T286S		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	286					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATCCAAAGTGACTGTTGATAC	0.378													T	99978220	A	T	99978220	3	4	4	1	0	0	0	0	1	0	0	0	5044	275	10	5	870	5	EIF5B	2	99978220	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	570	99978220	143221153	510	2575											
TBC1D8	11138	broad.mit.edu	37	chr2	101627911	101627911	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaatgaaaagaggtacgtGccattgggtttcccgaaaac	10	8	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:101627911G>A	uc010fiv.3	-	18	3003	c.2872_splice	c.e18+1	p.G958_splice	RPL31_uc010yvu.1_Intron|RPL31_uc010yvv.1_Intron|RPL31_uc010fiu.1_Intron|TBC1D8_uc002tau.4_Splice_Site_p.G715_splice	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	958					blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						AGAGGTACGTGCCATTGGGTT	0.517													A	101627911	G	A	101627911	5	1	4	1	0	0	0	0	0	0	1	0	15622	1333	46	2	560	2	TBC1D8	2	101627911	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1649691	101627911	141571462	511	2576											
IL1RL1	9173	broad.mit.edu	37	chr2	102965663	102965663	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcttgaaaataaatgtggCtataccttatgcatttatgg	8	5	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:102965663C>A	uc002tbu.1	+	9	1513	c.1242C>A	c.(1240-1242)ggC>ggA	p.G414G	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	414	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ATAAATGTGGCTATACCTTAT	0.413													A	102965663	C	A	102965663	2	1	4	1	0	0	0	0	0	0	0	1	7663	784	28	5		5	IL1RL1	2	102965663	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1337752	102965663	140233710	512	2577											
MFSD9	84804	broad.mit.edu	37	chr2	103334879	103334879	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttatgttgtccaaatccatCtactcactttttaatttact	2	9	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:103334879C>T	uc002tcb.2	-	5	1493	c.1425G>A	c.(1423-1425)taG>taA	p.*475*	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Silent_p.*414*	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	0					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CCAAATCCATCTACTCACTTT	0.453													T	103334879	C	T	103334879	2	4	4	1	0	0	0	0	0	0	0	1	9539	924	32	4		4	MFSD9	2	103334879	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	369216	103334879	139864494	513	2578											
MRPS9	64965	broad.mit.edu	37	chr2	105713663	105713663	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaccggctgggaaagcacgAcgtgacctgcacagtctcag	13	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:105713663A>G	uc002tcn.4	+	9	1048	c.980A>G	c.(979-981)gAc>gGc	p.D327G		NM_182640	NP_872578	P82933	RT09_HUMAN	Homo sapiens mitochondrial ribosomal protein S9 (MRPS9), nuclear gene encoding mitochondrial protein, mRNA.	327					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGAAAGCACGACGTGACCTGC	0.512													G	105713663	A	G	105713663	3	3	4	1	0	0	0	0	1	0	0	0	9849	275	10	3	1018	3	MRPS9	2	105713663	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	2378784	105713663	137485710	514	2579											
GPR45	11250	broad.mit.edu	37	chr2	105858977	105858977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacatgtgcatcctcaacaCggtccgcaagaacgccgtgc	9	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:105858977C>T	uc002tco.1	+	0	778	c.662C>T	c.(661-663)aCg>aTg	p.T221M		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	221						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						ATCCTCAACACGGTCCGCAAG	0.677													T	105858977	C	T	105858977	3	4	4	1	0	0	0	0	1	0	0	0	6696	536	19	1	664	1	GPR45	2	105858977	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	145314	105858977	137340396	515	2580											
ST6GAL2	84620	broad.mit.edu	37	chr2	107460198	107460198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtgggcgcggggcagcGcctggcgtgcgtccaggccc	20	14	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:107460198G>A	uc002tdq.3	-	1	355	c.236C>T	c.(235-237)gCg>gTg	p.A79V	ST6GAL2_uc002tdr.3_Missense_Mutation_p.A79V|ST6GAL2_uc002tds.3_Missense_Mutation_p.A79V	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	79					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.A79V(2)|p.A79A(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GCGGGGCAGCGCCTGGCGTGC	0.662													A	107460198	G	A	107460198	3	1	4	1	0	0	0	0	1	0	0	0	15221	1087	38	1	1460	1	ST6GAL2	2	107460198	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1601221	107460198	135739175	516	2581											
SLC5A7	60482	broad.mit.edu	37	chr2	108618435	108618435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgccaaataccaaaagcCgtggctgggaactgttgact	11	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:108618435C>T	uc002tdv.3	+	5	956	c.680C>T	c.(679-681)cCg>cTg	p.P227L	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.P227L|SLC5A7_uc010ywn.2_Missense_Mutation_p.P114L	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	227					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TACCAAAAGCCGTGGCTGGGA	0.453													T	108618435	C	T	108618435	3	4	4	1	0	0	0	0	1	0	0	0	14670	652	23	1	698	1	SLC5A7	2	108618435	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1158237	108618435	134580938	517	2582											
SULT1C3	442038	broad.mit.edu	37	chr2	108868906	108868906	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcccagactctagatagAcacgctttccttgaactgaa	8	11	1	6			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:108868906A>G	uc010ywo.2	+	1	258	c.258A>G	c.(256-258)agA>agG	p.R86R		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	86						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CTCTAGATAGACACGCTTTCC	0.373													G	108868906	A	G	108868906	2	3	4	1	0	0	0	0	0	0	0	1	15375	272	10	3		3	SULT1C3	2	108868906	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	250471	108868906	134330467	518	2583											
RANBP2	5903	broad.mit.edu	37	chr2	109382686	109382686	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccctgtgtctgctgatggAtttaaatttggcatttcgga	10	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:109382686A>G	uc002tem.4	+	19	5817	c.5691A>G	c.(5689-5691)ggA>ggG	p.G1897G		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	1897					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTGCTGATGGATTTAAATTTG	0.383													G	109382686	A	G	109382686	2	3	4	1	0	0	0	0	0	0	0	1	13028	320	12	3		3	RANBP2	2	109382686	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	513780	109382686	133816687	519	2584											
NPHP1	4867	broad.mit.edu	37	chr2	110927445	110927445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagcgatgtattcttcacCggttgaccatttgtgagatt	9	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:110927445C>T	uc002tfn.4	-	4	554	c.460G>A	c.(460-462)Ggt>Agt	p.G154S	NPHP1_uc002tfm.4_Missense_Mutation_p.G154S|NPHP1_uc002tfl.4_Missense_Mutation_p.G154S|NPHP1_uc002tfo.4_Missense_Mutation_p.G92S|NPHP1_uc010ywx.2_Missense_Mutation_p.G154S|NPHP1_uc010fjv.1_Missense_Mutation_p.G154S	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	154	SH3.				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TATTCTTCACCGGTTGACCAT	0.423													T	110927445	C	T	110927445	3	4	4	1	0	0	0	0	1	0	0	0	10579	652	23	1	1805	1	NPHP1	2	110927445	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1544759	110927445	132271928	520	2585											
TTL	150465	broad.mit.edu	37	chr2	113243554	113243554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgctgacaaactgtgtcGcaaagcttctttagtgaagt	12	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:113243554G>A	uc002thu.3	+	1	397	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_153712	NP_714923	Q8NG68	TTL_HUMAN	Homo sapiens tubulin tyrosine ligase (TTL), mRNA.	73	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		AAACTGTGTCGCAAAGCTTCT	0.458			T	ETV6	ALL								A	113243554	G	A	113243554	3	1	4	1	0	0	0	0	1	0	0	0	16718	1087	38	1	224	1	TTL	2	113243554	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2316109	113243554	129955819	521	2586											
POLR1B	84172	broad.mit.edu	37	chr2	113331267	113331267	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggcatcaaacctggtgaCccacgcgttctgcagaagtt	10	11	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:113331267C>T	uc002thw.2	+	13	2980	c.2400C>T	c.(2398-2400)gaC>gaT	p.D800D	POLR1B_uc010fkn.2_Silent_p.D744D|POLR1B_uc002thx.2_Silent_p.D661D|POLR1B_uc010fko.2_Silent_p.D617D|POLR1B_uc010fkp.2_Silent_p.D239D|POLR1B_uc002thy.2_Silent_p.D661D|POLR1B_uc010yxo.1_Silent_p.D577D	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	800				D -> G (in Ref. 1; BAC87247).	termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AACCTGGTGACCCACGCGTTC	0.463													T	113331267	C	T	113331267	2	4	4	1	0	0	0	0	0	0	0	1	12210	506	18	4		4	POLR1B	2	113331267	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	87713	113331267	129868106	522	2587											
SLC20A1	6574	broad.mit.edu	37	chr2	113414818	113414818	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgaagagaaaaattgaaCgtaagtaataactaaacagc	9	4	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:113414818C>T	uc002tib.3	+	6	1317	c.778_splice	c.e6+1	p.R260_splice	SLC20A1_uc002tic.1_Splice_Site_p.R72_splice	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	260					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AAAAATTGAACGTAAGTAATA	0.373													T	113414818	C	T	113414818	5	4	4	1	0	0	0	0	0	0	1	0	14438	550	19	1	796	1	SLC20A1	2	113414818	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	83551	113414818	129784555	523	2588											
CKAP2L	150468	broad.mit.edu	37	chr2	113510001	113510001	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgttttaagttccataggaGgccgtttataggtttttccc	9	7	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:113510001G>T	uc002tie.2	-	4	1524	c.1445C>A	c.(1444-1446)cCt>cAt	p.P482H	CKAP2L_uc002tif.2_Missense_Mutation_p.P71H|CKAP2L_uc010yxp.1_Missense_Mutation_p.P317H|CKAP2L_uc010yxq.1_Missense_Mutation_p.P317H	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	482						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TTCCATAGGAGGCCGTTTATA	0.313													T	113510001	G	T	113510001	3	4	4	1	0	0	0	0	1	0	0	0	3443	1000	35	5	812	5	CKAP2L	2	113510001	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	95183	113510001	129689372	524	2589											
CKAP2L	150468	broad.mit.edu	37	chr2	113514730	113514730	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gctggagtttaatgctgatgGaccttttaggtttgacaggc	13	6	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:113514730G>T	uc002tie.2	-	3	297	c.218C>A	c.(217-219)tCc>tAc	p.S73Y	CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_5'UTR	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	73						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						AATGCTGATGGACCTTTTAGG	0.403													T	113514730	G	T	113514730	3	4	4	1	0	0	0	0	1	0	0	0	3443	1174	41	5	2043	5	CKAP2L	2	113514730	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4729	113514730	129684643	525	2590											
CKAP2L	150468	broad.mit.edu	37	chr2	113520091	113520091	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaactcacttggtgttttgGctcttcagttttcccttggc	8	10	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:113520091G>A	uc002tie.2	-	1	172	c.93C>T	c.(91-93)agC>agT	p.S31S	CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_Intron	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	31						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGGTGTTTTGGCTCTTCAGTT	0.413													A	113520091	G	A	113520091	2	1	4	1	0	0	0	0	0	0	0	1	3443	1194	42	2		2	CKAP2L	2	113520091	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5361	113520091	129679282	526	2591											
DPP10	57628	broad.mit.edu	37	chr2	116572398	116572398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggaggccagctggttaCagataagttccatattgact	10	9	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:116572398C>T	uc002tle.3	+	19	1763	c.1742C>T	c.(1741-1743)aCa>aTa	p.T581I	DPP10_uc002tla.2_Missense_Mutation_p.T577I|DPP10_uc002tlb.2_Missense_Mutation_p.T527I|DPP10_uc002tlc.2_Missense_Mutation_p.T573I|DPP10_uc002tlf.2_Missense_Mutation_p.T570I	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	577					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CAGCTGGTTACAGATAAGTTC	0.408													T	116572398	C	T	116572398	3	4	4	1	0	0	0	0	1	0	0	0	4727	478	17	4	1979	4	DPP10	2	116572398	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3052307	116572398	126626975	527	2592											
DDX18	8886	broad.mit.edu	37	chr2	118577236	118577236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccaaagatacgaaaaaaGcaaaaactgaaaacaaaggg	7	6	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:118577236G>A	uc002tlh.1	+	2	481	c.382G>A	c.(382-384)Gca>Aca	p.A128T		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.	128							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TACGAAAAAAGCAAAAACTGA	0.308											OREG0003814	type=REGULATORY REGION|Gene=DDX18|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	118577236	G	A	118577236	3	1	4	1	0	0	0	0	1	0	0	0	4345	971	34	2	392	2	DDX18	2	118577236	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2004838	118577236	124622137	528	2593											
CCDC93	54520	broad.mit.edu	37	chr2	118732839	118732839	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagccctgctggaagtgcCgttttcttgtcctcagcctg	11	13	2	0	rs140835483		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:118732839C>T	uc002tlj.3	-	8	843	c.675G>A	c.(673-675)acG>acA	p.T225T	CCDC93_uc010fld.2_Silent_p.T281T	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	225										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTGGAAGTGCCGTTTTCTTGT	0.522													T	118732839	C	T	118732839	2	4	4	1	0	0	0	0	0	0	0	1	2872	639	23	1		1	CCDC93	2	118732839	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	155603	118732839	124466534	529	2594											
MARCO	8685	broad.mit.edu	37	chr2	119752090	119752090	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcaggcgtggagtgcagCgtctgacccggaaacccttt	14	12	1	1	rs150890503	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:119752090C>T	uc002tln.1	+	16	1689	c.1557C>T	c.(1555-1557)agC>agT	p.S519S	MARCO_uc010yyf.1_Silent_p.S441S	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	519	SRCR.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TGGAGTGCAGCGTCTGACCCG	0.602													T	119752090	C	T	119752090	2	4	4	1	0	0	0	0	0	0	0	1	9311	767	27	1		1	MARCO	2	119752090	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1019251	119752090	123447283	530	2595											
STEAP3	55240	broad.mit.edu	37	chr2	120005382	120005382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggaggccatgcccctgcGcctcctcccggcctggaagg	15	16	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:120005382G>A	uc002tlp.3	+	3	777	c.620G>A	c.(619-621)cGc>cAc	p.R207H	STEAP3_uc002tlq.3_Missense_Mutation_p.R217H|STEAP3_uc002tlr.3_Missense_Mutation_p.R207H|STEAP3_uc010fle.3_Missense_Mutation_p.R207H	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	207					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	p.R207C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						ATGCCCCTGCGCCTCCTCCCG	0.662													A	120005382	G	A	120005382	3	1	4	1	0	0	0	0	1	0	0	0	15278	1087	38	1	660	1	STEAP3	2	120005382	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	253292	120005382	123193991	531	2596											
STEAP3	55240	broad.mit.edu	37	chr2	120005645	120005645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagcgcttccccgactggCtggaccactggctacagcac	10	17	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:120005645C>T	uc002tlp.3	+	3	1040	c.883C>T	c.(883-885)Ctg>Ttg	p.L295L	STEAP3_uc002tlq.3_Silent_p.L305L|STEAP3_uc002tlr.3_Silent_p.L295L|STEAP3_uc010fle.3_Silent_p.L295L	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	295	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CCCCGACTGGCTGGACCACTG	0.687													T	120005645	C	T	120005645	2	4	4	1	0	0	0	0	0	0	0	1	15278	796	28	2		2	STEAP3	2	120005645	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	263	120005645	123193728	532	2597											
TMEM177	80775	broad.mit.edu	37	chr2	120438707	120438707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttccaacctgtgagtgCaggcttcccaagactccctg	8	16	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:120438707C>T	uc021vnk.1	+	0	278	c.278C>T	c.(277-279)gCa>gTa	p.A93V	TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Missense_Mutation_p.A93V|TMEM177_uc002tmc.1_Missense_Mutation_p.A93V|TMEM177_uc002tmd.2_Missense_Mutation_p.A93V|TMEM177_uc010flh.3_Intron	NM_030577	NP_085054	Q53S58	TM177_HUMAN	Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA.	93						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CCTGTGAGTGCAGGCTTCCCA	0.557													T	120438707	C	T	120438707	3	4	4	1	0	0	0	0	1	0	0	0	16091	710	25	2	280	2	TMEM177	2	120438707	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	433062	120438707	122760666	533	2598											
TMEM177	80775	broad.mit.edu	37	chr2	120438980	120438980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagggacctgggcactggGcgtgggtgccaagtacaccc	17	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:120438980G>A	uc021vnk.1	+	0	551	c.551G>A	c.(550-552)gGc>gAc	p.G184D	TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Missense_Mutation_p.G184D|TMEM177_uc002tmc.1_Missense_Mutation_p.G184D|TMEM177_uc002tmd.2_Missense_Mutation_p.G184D|TMEM177_uc010flh.3_Intron	NM_030577	NP_085054	Q53S58	TM177_HUMAN	Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA.	184						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					TGGGCACTGGGCGTGGGTGCC	0.642													A	120438980	G	A	120438980	3	1	4	1	0	0	0	0	1	0	0	0	16091	1203	42	2	553	2	TMEM177	2	120438980	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	273	120438980	122760393	534	2599											
TMEM177	80775	broad.mit.edu	37	chr2	120439194	120439194	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctatgagaagcttctgtcGggcaacctggccctgcgcag	12	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:120439194G>A	uc021vnk.1	+	0	765	c.765G>A	c.(763-765)tcG>tcA	p.S255S	TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Silent_p.S255S|TMEM177_uc002tmc.1_Silent_p.S255S|TMEM177_uc002tmd.2_Silent_p.S255S|TMEM177_uc010flh.3_Intron	NM_030577	NP_085054	Q53S58	TM177_HUMAN	Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA.	255						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					AGCTTCTGTCGGGCAACCTGG	0.587													A	120439194	G	A	120439194	2	1	4	1	0	0	0	0	0	0	0	1	16091	1103	39	1		1	TMEM177	2	120439194	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	214	120439194	122760179	535	2600											
PTPN4	5775	broad.mit.edu	37	chr2	120677773	120677773	+	Frame_Shift_Del	DEL	T	T	-													ccacttccacctcaaaagaaTttttttgcacattattttac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:120677772_120677772AT>A	uc002tmf.1	+	11	1727	c.956_956AT>A	c.(955-957)aatfs	p.N319fs	PTPN4_uc010flj.1_Frame_Shift_Del_p.N32fs	NM_002830	NP_002821	P29074	PTN4_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA.	319						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CCTCAAAAGAATTTTTTTGCA	0.333													-	120677773	T	-	120677773	7	5	4	1	0	1	0	1	0	0	0	0	12790	1490	52	0	999	0	PTPN4	2	120677773	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	238579	120677773	122521600	536	2601											
EPB41L5	57669	broad.mit.edu	37	chr2	120918487	120918488	+	Frame_Shift_Ins	INS	-	-	C													atgagaataatgtgcccctcINScccaaagagtctcttgagac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:120918486_120918487T>TC	uc002tmg.3	+	20	2014_2015	c.1823_1824T>TC	c.(1822-1824)ctcfs	p.L608fs	EPB41L5_uc010fll.3_Frame_Shift_Ins_p.L608fs|EPB41L5_uc010flm.3_Frame_Shift_Ins_p.L412fs	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA.	608						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AATGTGCCCCTCCCCAAAGAGT	0.396													C	120918488	-	C	120918487	7	5	4	1	0	1	1	0	0	0	0	0	5157	842	30	0	2087	0	EPB41L5	2	120918487	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	240714	120918487	122280886	537	2602											
IWS1	55677	broad.mit.edu	37	chr2	128252502	128252502	+	Frame_Shift_Del	DEL	T	T	-													ttaattttttcagtgctggcTttttttgattgttcaactgt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:128252501_128252501CT>C	uc002ton.2	-	7	2049	c.1746_1746AG>G	c.(1744-1746)aagfs	p.K582fs	IWS1_uc010yzl.1_Non-coding_Transcript	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	582					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCAGTGCTGGCTTTTTTTGAT	0.264													-	128252502	T	-	128252502	7	5	4	1	0	1	0	1	0	0	0	0	7931	1609	56	0	742	0	IWS1	2	128252502	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	7334015	128252502	114946871	538	2603											
MYO7B	4648	broad.mit.edu	37	chr2	128339927	128339927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcaagaagatcaatgccGccatcttcacaccaccagcc	6	15	4	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:128339927G>A	uc002top.3	+	11	1302	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	417	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GATCAATGCCGCCATCTTCAC	0.547													A	128339927	G	A	128339927	3	1	4	1	0	0	0	0	1	0	0	0	10083	1087	38	1	1291	1	MYO7B	2	128339927	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	87425	128339927	114859446	539	2604											
MYO7B	4648	broad.mit.edu	37	chr2	128394476	128394476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggcagccgcctgctgtgCgagacctccctggtgagctc	14	15	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:128394476C>T	uc002top.3	+	45	6290	c.6237C>T	c.(6235-6237)tgC>tgT	p.C2079C	MYO7B_uc002tos.2_Silent_p.C189C	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	2079	FERM 2.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCCTGCTGTGCGAGACCTCCC	0.612													T	128394476	C	T	128394476	2	4	4	1	0	0	0	0	0	0	0	1	10083	776	27	1		1	MYO7B	2	128394476	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	54549	128394476	114804897	540	2605											
GPR17	2840	broad.mit.edu	37	chr2	128408489	128408489	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcttttcatccgagaccaCaagtccgggaccccggccaa	10	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:128408489C>T	uc010yzn.2	+	3	875	c.264C>T	c.(262-264)caC>caT	p.H88H	LIMS2_uc002tow.3_5'Flank|LIMS2_uc002tox.3_Intron|LIMS2_uc010fmb.3_Intron|LIMS2_uc002toy.3_Intron|LIMS2_uc002tpa.3_Intron|LIMS2_uc002toz.3_Intron|LIMS2_uc010yzm.2_Intron|LIMS2_uc002tpb.3_Intron|GPR17_uc002tpc.3_Silent_p.H88H|GPR17_uc010yzo.2_Silent_p.H60H|GPR17_uc002tpd.3_Silent_p.H60H	NM_001161415	NP_001154889	Q13304	GPR17_HUMAN	Homo sapiens G protein-coupled receptor 17 (GPR17), transcript variant 1, mRNA.	88						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TCCGAGACCACAAGTCCGGGA	0.582													T	128408489	C	T	128408489	2	4	4	1	0	0	0	0	0	0	0	1	6667	477	17	4		4	GPR17	2	128408489	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	14013	128408489	114790884	541	2606											
WDR33	55339	broad.mit.edu	37	chr2	128471545	128471545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgccgctctgctcatgccGcctctctgacatcgggccca	9	20	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:128471545G>A	uc002tpg.2	-	17	3119	c.2920C>T	c.(2920-2922)Cgg>Tgg	p.R974W		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	974					postreplication repair|spermatogenesis	collagen|nucleus	protein binding	p.R973R(2)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGCTCATGCCGCCTCTCTGAC	0.632													A	128471545	G	A	128471545	3	1	4	1	0	0	0	0	1	0	0	0	17284	1086	38	1	1110	1	WDR33	2	128471545	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	63056	128471545	114727828	542	2607											
TUBA3E	112714	broad.mit.edu	37	chr2	130949603	130949603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcgggcccaggcctccGcaatggccgtggtgttgctc	15	15	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:130949603G>A	uc002tqv.3	-	4	1255	c.1154C>T	c.(1153-1155)gCg>gTg	p.A385V		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	Homo sapiens tubulin, alpha 3e (TUBA3E), mRNA.	385					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CCAGGCCTCCGCAATGGCCGT	0.627													A	130949603	G	A	130949603	3	1	4	1	0	0	0	0	1	0	0	0	16745	1087	38	1	202	1	TUBA3E	2	130949603	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2478058	130949603	112249770	543	2608											
POTEE	445582	broad.mit.edu	37	chr2	131976329	131976329	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggcaagagcaaggtgggCgcttggggagactacgatga	18	7	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:131976329C>T	uc002tsn.2	+	0	406	c.354C>T	c.(352-354)ggC>ggT	p.G118G	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	118							ATP binding										GCAAGGTGGGCGCTTGGGGAG	0.597													T	131976329	C	T	131976329	2	4	4	1	0	0	0	0	0	0	0	1	12264	755	27	1		1	POTEE	2	131976329	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1026726	131976329	111223044	544	2609											
POTEE	445582	broad.mit.edu	37	chr2	131976349	131976349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcttggggagactacgatgAcagcgccttcatggagccca	13	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:131976349A>G	uc002tsn.2	+	0	426	c.374A>G	c.(373-375)gAc>gGc	p.D125G	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	125							ATP binding										GACTACGATGACAGCGCCTTC	0.592													G	131976349	A	G	131976349	3	3	4	1	0	0	0	0	1	0	0	0	12264	275	10	3	376	3	POTEE	2	131976349	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	20	131976349	111223024	545	2610											
NCKAP5	344148	broad.mit.edu	37	chr2	133547759	133547759	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggcatttcaaggccgatTttgtatttagttggtgttcc	11	7	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:133547759T>C	uc002ttp.3	-	12	1303	c.929A>G	c.(928-930)aAa>aGa	p.K310R	NCKAP5_uc002ttq.3_Missense_Mutation_p.K310R	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	310							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CAAGGCCGATTTTGTATTTAG	0.483													C	133547759	T	C	133547759	3	2	4	1	0	0	0	0	1	0	0	0	10223	1841	64	3	4832	3	NCKAP5	2	133547759	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1571410	133547759	109651614	546	2611											
NCKAP5	344148	broad.mit.edu	37	chr2	133887575	133887575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactgctgctgcaagctacGcatctgaattctgttgcgtt	10	10	2	1	rs142446996	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:133887575G>A	uc002ttp.3	-	5	690	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C	NCKAP5_uc002ttq.3_Missense_Mutation_p.R106C|NCKAP5_uc002ttt.1_Missense_Mutation_p.R106C|NCKAP5_uc002tts.1_Missense_Mutation_p.R81C	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	106							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGCAAGCTACGCATCTGAATT	0.488													A	133887575	G	A	133887575	3	1	4	1	0	0	0	0	1	0	0	0	10223	1087	38	1	5473	1	NCKAP5	2	133887575	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	339816	133887575	109311798	547	2612											
NCKAP5	344148	broad.mit.edu	37	chr2	134060653	134060653	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaagctgagtcagcagatgCtcaatgtatttattggagtc	10	7	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:134060653C>A	uc002ttp.3	-	3	473	c.99G>T	c.(97-99)gaG>gaT	p.E33D	NCKAP5_uc002ttq.3_Missense_Mutation_p.E33D|NCKAP5_uc002ttt.1_Missense_Mutation_p.E33D|NCKAP5_uc002tts.1_Missense_Mutation_p.E8D	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	33							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCAGCAGATGCTCAATGTATT	0.438													A	134060653	C	A	134060653	3	1	4	1	0	0	0	0	1	0	0	0	10223	796	28	5	5698	5	NCKAP5	2	134060653	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	173078	134060653	109138720	548	2613											
MGAT5	4249	broad.mit.edu	37	chr2	135185968	135185968	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccatatgaatttacgtgCgaggggatgctacagagaat	12	6	0	2	rs146926321	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:135185968C>T	uc002ttw.4	+	13	1972	c.1827C>T	c.(1825-1827)tgC>tgT	p.C609C		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.	609					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		AATTTACGTGCGAGGGGATGC	0.453													T	135185968	C	T	135185968	2	4	4	1	0	0	0	0	0	0	0	1	9548	776	27	1		1	MGAT5	2	135185968	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1125315	135185968	108013405	549	2614											
ACMSD	130013	broad.mit.edu	37	chr2	135630090	135630090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccatggattcagcatgcGcccagatctgtgtgcccagg	11	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:135630090G>A	uc002ttz.3	+	7	795	c.728G>A	c.(727-729)cGc>cAc	p.R243H	ACMSD_uc002tua.3_Missense_Mutation_p.R185H|LOC100129961_uc010zbe.2_Intron	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	243					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TTCAGCATGCGCCCAGATCTG	0.493													A	135630090	G	A	135630090	3	1	4	1	0	0	0	0	1	0	0	0	144	1087	38	1	758	1	ACMSD	2	135630090	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	444122	135630090	107569283	550	2615											
R3HDM1	23518	broad.mit.edu	37	chr2	136473231	136473231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaccactttccatcatgCcccaattttctagacctttt	3	15	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:136473231C>T	uc002tuo.3	+	22	3113	c.2743C>T	c.(2743-2745)Ccc>Tcc	p.P915S	R3HDM1_uc010fni.3_Missense_Mutation_p.P914S|R3HDM1_uc002tup.3_Missense_Mutation_p.P860S|R3HDM1_uc010zbh.2_Missense_Mutation_p.P663S	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	915							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TTCCATCATGCCCCAATTTTC	0.488													T	136473231	C	T	136473231	3	4	4	1	0	0	0	0	1	0	0	0	12887	739	26	2	2825	2	R3HDM1	2	136473231	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	843141	136473231	106726142	551	2616											
UBXN4	23190	broad.mit.edu	37	chr2	136513161	136513161	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgtctactccatctgcGtcatttgaacctaacaacac	5	13	4	1	rs149655604	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:136513161G>A	uc002tur.3	+	4	719	c.408G>A	c.(406-408)gcG>gcA	p.A136A	UBXN4_uc002tus.3_5'UTR	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	Homo sapiens UBX domain protein 4 (UBXN4), mRNA.	136					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	p.A136A(4)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CTCCATCTGCGTCATTTGAAC	0.393													A	136513161	G	A	136513161	2	1	4	1	0	0	0	0	0	0	0	1	16913	1132	40	1		1	UBXN4	2	136513161	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	39930	136513161	106686212	552	2617											
LCT	3938	broad.mit.edu	37	chr2	136558281	136558281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcacgccaccttgactggCgcggtacacatcgttgtaca	9	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:136558281C>T	uc002tuu.1	-	11	4773	c.4762G>A	c.(4762-4764)Gcc>Acc	p.A1588T		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1588	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.R1587H(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCTTGACTGGCGCGGTACACA	0.542													T	136558281	C	T	136558281	3	4	4	1	0	0	0	0	1	0	0	0	8693	768	27	1	1045	1	LCT	2	136558281	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	45120	136558281	106641092	553	2618											
LCT	3938	broad.mit.edu	37	chr2	136567187	136567187	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgataagcggaagaggacacGccccacagaaagtcatcccg	11	12	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:136567187G>A	uc002tuu.1	-	7	2741	c.2730C>T	c.(2728-2730)ggC>ggT	p.G910G		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	910	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.G910V(1)|p.W909L(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AAGAGGACACGCCCCACAGAA	0.527													A	136567187	G	A	136567187	2	1	4	1	0	0	0	0	0	0	0	1	8693	1074	38	1		1	LCT	2	136567187	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	8906	136567187	106632186	554	2619											
CXCR4	7852	broad.mit.edu	37	chr2	136872597	136872597	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctccaaggaaagcatagaGgatggggttcagacaacagt	14	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:136872597G>T	uc002tuz.3	-	1	996	c.901C>A	c.(901-903)Ctc>Atc	p.L301I	CXCR4_uc002tuy.3_Missense_Mutation_p.L305I|CXCR4_uc010fnk.3_Missense_Mutation_p.L286I	NM_003467	NP_003458	P61073	CXCR4_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA.	301					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	AAAGCATAGAGGATGGGGTTC	0.507													T	136872597	G	T	136872597	3	4	4	1	0	0	0	0	1	0	0	0	4093	1000	35	5	161	5	CXCR4	2	136872597	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	305410	136872597	106326776	555	2620											
THSD7B	80731	broad.mit.edu	37	chr2	137928508	137928508	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtctgccagaatgaccgcGgtatgacccagtgacccact	10	15	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:137928508G>A	uc002tva.1	+	6	1630	c.1630_splice	c.e6+1	p.G544_splice	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Splice_Site_p.G434_splice	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAATGACCGCGGTATGACCCA	0.488													A	137928508	G	A	137928508	5	1	4	1	0	0	0	0	0	0	1	0	15877	1130	39	1	1652	1	THSD7B	2	137928508	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1055911	137928508	105270865	556	2621											
HNMT	3176	broad.mit.edu	37	chr2	138762705	138762705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttcctcctttctagatgCtgtattatgtaaaagacatc	5	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:138762705C>T	uc002tvf.3	+	4	687	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L		NM_006895	NP_008826	P50135	HNMT_HUMAN	Homo sapiens histamine N-methyltransferase (HNMT), transcript variant 1, mRNA.	145					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity	p.L145L(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	TTTCTAGATGCTGTATTATGT	0.368													T	138762705	C	T	138762705	2	4	4	1	0	0	0	0	0	0	0	1	7255	796	28	2		2	HNMT	2	138762705	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	834197	138762705	104436668	557	2622											
LRP1B	53353	broad.mit.edu	37	chr2	141259398	141259398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagacctccactgggaatgCacctgccatttttgcacata	7	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:141259398C>T	uc002tvj.1	-	54	9680	c.8708G>A	c.(8707-8709)tGc>tAc	p.C2903Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2903	LDL-receptor class A 20.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTGGGAATGCACCTGCCATT	0.373										TSP Lung(27;0.18)			T	141259398	C	T	141259398	3	4	4	1	0	0	0	0	1	0	0	0	8955	710	25	2	5239	2	LRP1B	2	141259398	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2496693	141259398	101939975	558	2623											
LRP1B	53353	broad.mit.edu	37	chr2	141294197	141294197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatctttacagtgaggaatgCcatcacaggtgagctggtag	12	7	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:141294197C>T	uc002tvj.1	-	45	8567	c.7595G>A	c.(7594-7596)gGc>gAc	p.G2532D		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2532	LDL-receptor class A 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTGAGGAATGCCATCACAGGT	0.378										TSP Lung(27;0.18)			T	141294197	C	T	141294197	3	4	4	1	0	0	0	0	1	0	0	0	8955	739	26	2	6388	2	LRP1B	2	141294197	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	34799	141294197	101905176	559	2624											
GTDC1	79712	broad.mit.edu	37	chr2	144765058	144765058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgccatttcctttaaggCcgagcatcttctttaaatgg	7	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:144765058C>T	uc002tvp.3	-	6	845	c.566G>A	c.(565-567)gGc>gAc	p.G189D	GTDC1_uc002tvo.3_Missense_Mutation_p.G189D|GTDC1_uc021vqf.1_Missense_Mutation_p.G189D|GTDC1_uc010fnn.3_Missense_Mutation_p.G189D|GTDC1_uc002tvs.3_Missense_Mutation_p.G157D|GTDC1_uc021vqg.1_Intron|GTDC1_uc002tvr.3_Missense_Mutation_p.G189D|GTDC1_uc010fno.3_Missense_Mutation_p.G60D|GTDC1_uc002tvt.2_Missense_Mutation_p.G189D	NM_001006636	NP_001158101	Q4AE62	GTDC1_HUMAN	Homo sapiens glycosyltransferase-like domain containing 1 (GTDC1), transcript variant 1, mRNA.	189					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TCCTTTAAGGCCGAGCATCTT	0.373													T	144765058	C	T	144765058	3	4	4	1	0	0	0	0	1	0	0	0	6851	739	26	2	834	2	GTDC1	2	144765058	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3470861	144765058	98434315	560	2625											
KIF5C	3800	broad.mit.edu	37	chr2	149853828	149853828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagaaggaacatctgacgCggttgcaggatgctgaagaa	15	6	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:149853828C>T	uc010zbu.2	+	17	2469	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W	KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twt.3_Missense_Mutation_p.R244W|KIF5C_uc002twu.1_5'Flank	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	692					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.E692*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ACATCTGACGCGGTTGCAGGA	0.433													T	149853828	C	T	149853828	3	4	4	1	0	0	0	0	1	0	0	0	8307	759	27	1	2066	1	KIF5C	2	149853828	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	5088770	149853828	93345545	561	2626											
RND3	390	broad.mit.edu	37	chr2	151326517	151326517	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agattcacatcacagtgcagCtcttcgctttgtcctttcgt	7	12	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:151326517C>A	uc002txg.3	-	5	904	c.719G>T	c.(718-720)aGc>aTc	p.S240I	RND3_uc002txe.3_Missense_Mutation_p.S240I|RND3_uc010zbv.2_Missense_Mutation_p.A123S	NM_005168	NP_005159	P61587	RND3_HUMAN	Homo sapiens Rho family GTPase 3 (RND3), transcript variant 2, mRNA.	240					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		CACAGTGCAGCTCTTCGCTTT	0.418													A	151326517	C	A	151326517	3	1	4	1	0	0	0	0	1	0	0	0	13421	797	28	5	19	5	RND3	2	151326517	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1472689	151326517	91872856	562	2627											
RBM43	375287	broad.mit.edu	37	chr2	152112048	152112049	+	Splice_Site	INS	-	-	T													aatttgacttggaaatacctINStttttttctttgaatattac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:152112047_152112048C>CT	uc002txh.3	-	2	362	c.214_splice	c.e2+1	p.V72_splice		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	Homo sapiens RNA binding motif protein 43 (RBM43), mRNA.	72	RRM.						RNA binding|nucleotide binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTGGAAATACCTTTTTTTTCTT	0.287													T	152112049	-	T	152112048	8	5	4	1	0	1	1	0	0	0	1	0	13137	1623	56	0	872	0	RBM43	2	152112048	Splice_Site	INS	-	TCGA-BR-4184-01A-01D-1126-08	785531	152112048	91087325	563	2628											
NEB	4703	broad.mit.edu	37	chr2	152500390	152500390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgctctggtcgggcaggCatgtccactggtgcaggtag	15	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:152500390C>T	uc021vrb.1	-	54	7927	c.7898G>A	c.(7897-7899)tGc>tAc	p.C2633Y	NEB_uc002txu.3_Missense_Mutation_p.C2633Y|NEB_uc021vrc.1_Missense_Mutation_p.C2633Y|NEB_uc010fnx.3_Missense_Mutation_p.C2633Y|NEB_uc021vrd.1_Missense_Mutation_p.C2633Y	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2633					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCGGGCAGGCATGTCCACTG	0.537													T	152500390	C	T	152500390	3	4	4	1	0	0	0	0	1	0	0	0	10302	710	25	2	18292	2	NEB	2	152500390	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	388342	152500390	90698983	564	2629											
NEB	4703	broad.mit.edu	37	chr2	152536281	152536281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagctctgatgggaatcGcatcagttctcaggtcatat	11	9	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:152536281G>A	uc021vrb.1	-	29	3238	c.3209C>T	c.(3208-3210)gCg>gTg	p.A1070V	NEB_uc002txu.3_Missense_Mutation_p.A1070V|NEB_uc021vrc.1_Missense_Mutation_p.A1070V|NEB_uc010fnx.3_Missense_Mutation_p.A1070V|NEB_uc021vrd.1_Missense_Mutation_p.A1070V	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1070					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.A1070V(3)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GATGGGAATCGCATCAGTTCT	0.468													A	152536281	G	A	152536281	3	1	4	1	0	0	0	0	1	0	0	0	10302	1087	38	1	23081	1	NEB	2	152536281	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	35891	152536281	90663092	565	2630											
NEB	4703	broad.mit.edu	37	chr2	152567047	152567047	+	Frame_Shift_Del	DEL	T	T	-													ttttcatagtcttctttgtaTttttgctagaaaaaagaaaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:152567046_152567046AT>A	uc021vrb.1	-	8	858	c.829_829AT>T	c.(829-831)tacfs	p.Y277fs	NEB_uc002txu.3_Frame_Shift_Del_p.Y277fs|NEB_uc021vrc.1_Frame_Shift_Del_p.Y277fs|NEB_uc010fnx.3_Frame_Shift_Del_p.Y277fs|NEB_uc021vrd.1_Frame_Shift_Del_p.Y277fs	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	277					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTTCTTTGTATTTTTGCTAG	0.284													-	152567047	T	-	152567047	7	5	4	1	0	1	0	1	0	0	0	0	10302	1490	52	0	25546	0	NEB	2	152567047	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	30766	152567047	90632326	566	2631											
NEB	4703	broad.mit.edu	37	chr2	152580820	152580820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcctggacaagttcagggGcatcaggaggaagcaggtac	16	9	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:152580820G>A	uc021vrb.1	-	5	595	c.566C>T	c.(565-567)gCc>gTc	p.A189V	NEB_uc002txu.3_Missense_Mutation_p.A189V|NEB_uc021vrc.1_Missense_Mutation_p.A189V|NEB_uc010fnx.3_Missense_Mutation_p.A189V|NEB_uc021vrd.1_Missense_Mutation_p.A189V	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	189					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAGTTCAGGGGCATCAGGAGG	0.493													A	152580820	G	A	152580820	3	1	4	1	0	0	0	0	1	0	0	0	10302	1203	42	2	25820	2	NEB	2	152580820	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	13773	152580820	90618553	567	2632											
ARL5A	26225	broad.mit.edu	37	chr2	152663340	152663340	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagatgtcttacccctcGccagttagagcacagcatgc	10	12	1	2	rs150433799		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:152663340G>A	uc002txx.1	-	4	805	c.486C>T	c.(484-486)ggC>ggT	p.G162G	ARL5A_uc010zcc.2_Non-coding_Transcript|ARL5A_uc002txv.1_Silent_p.G125G|ARL5A_uc002txw.1_Silent_p.G125G	NM_012097	NP_817114	Q9Y689	ARL5A_HUMAN	Homo sapiens ADP-ribosylation factor-like 5A (ARL5A), transcript variant 1, mRNA.	162					small GTPase mediated signal transduction	intracellular	GTP binding			breast(1)|large_intestine(2)|liver(1)|lung(2)	6				BRCA - Breast invasive adenocarcinoma(221;0.153)		CTTACCCCTCGCCAGTTAGAG	0.358													A	152663340	G	A	152663340	2	1	4	1	0	0	0	0	0	0	0	1	939	1074	38	1		1	ARL5A	2	152663340	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	82520	152663340	90536033	568	2633											
ACVR1	90	broad.mit.edu	37	chr2	158626897	158626897	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacctaagatattttcatgcCtcagcatcacagtgttgtac	6	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:158626897C>A	uc002tzn.3	-	6	1203	c.773G>T	c.(772-774)aGg>aTg	p.R258M	ACVR1_uc002tzm.3_Missense_Mutation_p.R258M|ACVR1_uc010fog.2_Missense_Mutation_p.R258M	NM_001105	NP_001104537	Q04771	ACVR1_HUMAN	Homo sapiens activin A receptor, type I (ACVR1), transcript variant 1, mRNA.	258	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	ATP binding|SMAD binding|activin binding|follistatin binding|metal ion binding|protein homodimerization activity|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	ATTTTCATGCCTCAGCATCAC	0.453													A	158626897	C	A	158626897	3	1	4	1	0	0	0	0	1	0	0	0	220	681	24	5	776	5	ACVR1	2	158626897	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	5963557	158626897	84572476	569	2634											
PKP4	8502	broad.mit.edu	37	chr2	159477502	159477502	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaacttttcttgttacagAcgtgccaaatactggtgtaa	7	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:159477502A>G	uc002tzv.3	+	5	541	c.281_splice	c.e5-1	p.D94_splice	PKP4_uc002tzt.1_Splice_Site|PKP4_uc002tzu.3_Splice_Site_p.D94_splice|PKP4_uc002tzw.3_Splice_Site_p.D94_splice|PKP4_uc002tzx.3_Splice_Site|PKP4_uc002tzy.1_Splice_Site|PKP4_uc002tzz.1_Splice_Site_p.D94_splice|PKP4_uc002uaa.3_Splice_Site	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	94					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CTTGTTACAGACGTGCCAAAT	0.368										HNSCC(62;0.18)			G	159477502	A	G	159477502	5	3	4	1	0	0	0	0	0	0	1	0	11987	289	10	3	295	3	PKP4	2	159477502	Splice_Site	SNP	A	TCGA-BR-4184-01A-01D-1126-08	850605	159477502	83721871	570	2635											
PKP4	8502	broad.mit.edu	37	chr2	159526422	159526422	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacataaccaaaggcaggggCgacaggcaagtctgcggcaa	13	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:159526422C>T	uc002tzv.3	+	16	3179	c.2919C>T	c.(2917-2919)ggC>ggT	p.G973G	PKP4_uc002tzw.3_Silent_p.G973G|PKP4_uc002tzx.3_Silent_p.G630G|PKP4_uc002uaa.3_Silent_p.G825G|AK126351_uc002uab.1_Intron|PKP4_uc002uac.3_Silent_p.G154G|PKP4_uc002uae.1_Silent_p.G60G	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	973					cell adhesion	desmosome	protein binding	p.G973G(2)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AAGGCAGGGGCGACAGGCAAG	0.527										HNSCC(62;0.18)			T	159526422	C	T	159526422	2	4	4	1	0	0	0	0	0	0	0	1	11987	755	27	1		1	PKP4	2	159526422	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	48920	159526422	83672951	571	2636											
TANC1	85461	broad.mit.edu	37	chr2	160050772	160050772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccttgtccaacaggtgaGccgtctcctgattttgggag	14	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:160050772G>A	uc002uag.3	+	16	3021	c.2747G>A	c.(2746-2748)aGc>aAc	p.S916N	TANC1_uc010zcm.2_Missense_Mutation_p.S908N|TANC1_uc010fom.1_Missense_Mutation_p.S722N	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	916						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CAACAGGTGAGCCGTCTCCTG	0.468													A	160050772	G	A	160050772	3	1	4	1	0	0	0	0	1	0	0	0	15541	971	34	2	2805	2	TANC1	2	160050772	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	524350	160050772	83148601	572	2637											
BAZ2B	29994	broad.mit.edu	37	chr2	160304907	160304907	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatgagcatcagttgttcgCcaccattctgcacctcaaaa	7	12	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:160304907C>T	uc002uao.3	-	4	753	c.348G>A	c.(346-348)tgG>tgA	p.W116*	BAZ2B_uc002uap.3_Nonsense_Mutation_p.W114*|BAZ2B_uc002uas.1_Nonsense_Mutation_p.W53*|BAZ2B_uc002uau.1_Nonsense_Mutation_p.W114*|BAZ2B_uc002uaq.1_Nonsense_Mutation_p.W44*|BAZ2B_uc002uat.4_Nonsense_Mutation_p.W53*|BAZ2B_uc010fop.1_Nonsense_Mutation_p.W114*	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CAGTTGTTCGCCACCATTCTG	0.388													T	160304907	C	T	160304907	4	4	4	1	0	0	0	0	0	1	0	0	1332	740	26	2	6290	2	BAZ2B	2	160304907	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	254135	160304907	82894466	573	2638											
MARCH7	64844	broad.mit.edu	37	chr2	160605008	160605008	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgttctctagaaggaggCgagagggaagagatgaatct	14	5	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:160605008C>T	uc002uax.3	+	4	1329	c.1207C>T	c.(1207-1209)Cga>Tga	p.R403*	MARCH7_uc010foq.3_Nonsense_Mutation_p.R403*|MARCH7_uc010zcn.2_Nonsense_Mutation_p.R347*|MARCH7_uc010for.3_Nonsense_Mutation_p.R365*|MARCH7_uc002uay.3_Non-coding_Transcript	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 7 (MARCH7), mRNA.	403	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TAGAAGGAGGCGAGAGGGAAG	0.378													T	160605008	C	T	160605008	4	4	4	1	0	0	0	0	0	1	0	0	9306	760	27	1	1221	1	MARCH7	2	160605008	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	300101	160605008	82594365	574	2639											
PLA2R1	22925	broad.mit.edu	37	chr2	160806195	160806196	+	Frame_Shift_Ins	INS	-	-	A													agcgtccgttgctgtcggcaINSaaaacgcagtcaccaaggag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:160806194_160806195C>CA	uc002ube.2	-	24	3845_3846	c.3633_3634G>TG	c.(3631-3636)tttgccfs	p.F1211fs	PLA2R1_uc010zcp.2_Frame_Shift_Ins_p.F1211fs|PLA2R1_uc002ubf.3_Frame_Shift_Ins_p.F1211fs	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	1211	C-type lectin 7.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.V1210I(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTGCTGTCGGCAAAAACGCAGT	0.475													A	160806196	-	A	160806195	7	5	4	1	0	1	1	0	0	0	0	0	12010	127	5	0	790	0	PLA2R1	2	160806195	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	201187	160806195	82393178	575	2640											
PLA2R1	22925	broad.mit.edu	37	chr2	160832609	160832609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgtggatgaattcttgCtcatgtgcagaatgaattgt	11	5	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:160832609C>T	uc002ube.2	-	16	2777	c.2565G>A	c.(2563-2565)gaG>gaA	p.E855E	PLA2R1_uc010zcp.2_Silent_p.E855E|PLA2R1_uc002ubf.3_Silent_p.E855E	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	855	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TGAATTCTTGCTCATGTGCAG	0.423													T	160832609	C	T	160832609	2	4	4	1	0	0	0	0	0	0	0	1	12010	796	28	2		2	PLA2R1	2	160832609	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	26414	160832609	82366764	576	2641											
RBMS1	5937	broad.mit.edu	37	chr2	161349809	161349809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccctttaccttggcttgCagatactgggggtaatagta	11	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:161349809C>T	uc002ubo.3	-	0	510	c.66G>A	c.(64-66)ctG>ctA	p.L22L	RBMS1_uc002ubn.3_Silent_p.L22L|RBMS1_uc002ubi.4_Silent_p.L22L|RBMS1_uc002ubm.3_5'UTR|RBMS1_uc002ubp.3_Silent_p.L22L|RBMS1_uc010fox.2_Silent_p.L22L	NM_016836	NP_058520	P29558	RBMS1_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 1 (RBMS1), transcript variant 1, mRNA.	22					DNA replication|RNA processing	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								CCTTGGCTTGCAGATACTGGG	0.677													T	161349809	C	T	161349809	2	4	4	1	0	0	0	0	0	0	0	1	13148	697	25	2		2	RBMS1	2	161349809	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	517200	161349809	81849564	577	2642											
TANK	10010	broad.mit.edu	37	chr2	162081195	162081195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagaatttcataaaatatGcatgctagcaaaagcacaga	7	6	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:162081195G>A	uc002ubs.3	+	5	566	c.458G>A	c.(457-459)tGc>tAc	p.C153Y	TANK_uc002ubr.2_Missense_Mutation_p.C153Y	NM_001199135	NP_001186064	Q92844	TANK_HUMAN	Homo sapiens TRAF family member-associated NFKB activator (TANK), transcript variant 3, mRNA.	153						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CATAAAATATGCATGCTAGCA	0.289													A	162081195	G	A	162081195	3	1	4	1	0	0	0	0	1	0	0	0	15543	1319	46	2	509	2	TANK	2	162081195	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	731386	162081195	81118178	578	2643											
DPP4	1803	broad.mit.edu	37	chr2	162891760	162891760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aataagtgggacttctgtgtCgttaaattgggcatatgcta	11	5	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:162891760C>T	uc002ubz.3	-	8	1249	c.688G>A	c.(688-690)Gac>Aac	p.D230N	DPP4_uc010fpb.3_5'UTR	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	230					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ACTTCTGTGTCGTTAAATTGG	0.443													T	162891760	C	T	162891760	3	4	4	1	0	0	0	0	1	0	0	0	4729	884	31	1	1684	1	DPP4	2	162891760	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	810565	162891760	80307613	579	2644											
GCA	25801	broad.mit.edu	37	chr2	163204223	163204223	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcagctggtgactccgtgTatacttacttcagtgctgtt	9	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:163204223T>A	uc002ucg.3	+	1	339	c.163T>A	c.(163-165)Tat>Aat	p.Y55N		NM_012198	NP_036330	P28676	GRAN_HUMAN	Homo sapiens grancalcin, EF-hand calcium binding protein (GCA), mRNA.	55	EF-hand 1.				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						TGACTCCGTGTATACTTACTT	0.418													A	163204223	T	A	163204223	3	1	4	1	0	0	0	0	1	0	0	0	6283	1638	57	5	169	5	GCA	2	163204223	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	312463	163204223	79995150	580	2645											
GRB14	2888	broad.mit.edu	37	chr2	165353759	165353759	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgaagaggcagtggggCtaccgtgagtgcccaggcgt	17	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:165353759C>A	uc002ucl.3	-	10	1797	c.1256G>T	c.(1255-1257)aGc>aTc	p.S419I	GRB14_uc010zcv.2_Missense_Mutation_p.S332I	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	419					blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GGCAGTGGGGCTACCGTGAGT	0.423													A	165353759	C	A	165353759	3	1	4	1	0	0	0	0	1	0	0	0	6757	797	28	5	382	5	GRB14	2	165353759	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2149536	165353759	77845614	581	2646											
COBLL1	22837	broad.mit.edu	37	chr2	165548787	165548787	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtcagcaaactctgtcGcatctgttctgggtcagagc	11	11	5	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:165548787G>A	uc002ucp.3	-	12	3580	c.3358C>T	c.(3358-3360)Cga>Tga	p.R1120*	COBLL1_uc002ucq.3_Nonsense_Mutation_p.R1082*|COBLL1_uc010zcw.2_Nonsense_Mutation_p.R1187*|COBLL1_uc010zcx.2_Nonsense_Mutation_p.R1128*|COBLL1_uc002ucn.3_Nonsense_Mutation_p.R548*|COBLL1_uc002uco.3_Nonsense_Mutation_p.R851*	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	1158										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AAACTCTGTCGCATCTGTTCT	0.443													A	165548787	G	A	165548787	4	1	4	1	0	0	0	0	0	1	0	0	3654	1095	38	1	150	1	COBLL1	2	165548787	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	195028	165548787	77650586	582	2647											
COBLL1	22837	broad.mit.edu	37	chr2	165550894	165550894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcactaggtgactcggtgCgctctttactgaaagactgt	12	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:165550894C>T	uc002ucp.3	-	11	3344	c.3122G>A	c.(3121-3123)cGc>cAc	p.R1041H	COBLL1_uc002ucq.3_Missense_Mutation_p.R1003H|COBLL1_uc010zcw.2_Missense_Mutation_p.R1108H|COBLL1_uc010zcx.2_Missense_Mutation_p.R1049H|COBLL1_uc002ucn.3_Missense_Mutation_p.R469H|COBLL1_uc002uco.3_Missense_Mutation_p.R772H	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	1079										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TGACTCGGTGCGCTCTTTACT	0.473													T	165550894	C	T	165550894	3	4	4	1	0	0	0	0	1	0	0	0	3654	768	27	1	390	1	COBLL1	2	165550894	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2107	165550894	77648479	583	2648											
SCN3A	6328	broad.mit.edu	37	chr2	165946823	165946823	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagttcccatttagtttgTcaataatcatgtcttgtttt	7	6	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:165946823T>C	uc002ucx.3	-	27	6332	c.5840A>G	c.(5839-5841)gAc>gGc	p.D1947G	SCN3A_uc010zcy.2_Missense_Mutation_p.D430G|SCN3A_uc002ucy.3_Missense_Mutation_p.D1898G|SCN3A_uc002ucz.3_Missense_Mutation_p.D1898G	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1947						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATTTAGTTTGTCAATAATCAT	0.348													C	165946823	T	C	165946823	3	2	4	1	0	0	0	0	1	0	0	0	13918	1667	58	3	166	3	SCN3A	2	165946823	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	395929	165946823	77252550	584	2649											
SCN3A	6328	broad.mit.edu	37	chr2	165997321	165997321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactaacgttactgttgcgtCgctctccatgtctgtgcggc	11	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:165997321C>T	uc002ucx.3	-	12	2351	c.1859G>A	c.(1858-1860)cGa>cAa	p.R620Q	SCN3A_uc002ucy.3_Missense_Mutation_p.R620Q|SCN3A_uc002ucz.3_Missense_Mutation_p.R620Q|SCN3A_uc002uda.1_Missense_Mutation_p.R489Q|SCN3A_uc002udb.1_Missense_Mutation_p.R489Q	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	620						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R620Q(6)|p.R620*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ACTGTTGCGTCGCTCTCCATG	0.498													T	165997321	C	T	165997321	3	4	4	1	0	0	0	0	1	0	0	0	13918	884	31	1	4207	1	SCN3A	2	165997321	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	50498	165997321	77202052	585	2650											
SCN2A	6326	broad.mit.edu	37	chr2	166152416	166152416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgctgctattgaacaacGcattgcagaagagaaagcta	9	9	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:166152416G>A	uc002udc.3	+	1	373	c.83G>A	c.(82-84)cGc>cAc	p.R28H	SCN2A_uc002udd.3_Missense_Mutation_p.R28H|SCN2A_uc002ude.3_Missense_Mutation_p.R28H	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	28					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R28H(3)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATTGAACAACGCATTGCAGAA	0.488													A	166152416	G	A	166152416	3	1	4	1	0	0	0	0	1	0	0	0	13916	1087	38	1	85	1	SCN2A	2	166152416	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	155095	166152416	77046957	586	2651											
SCN2A	6326	broad.mit.edu	37	chr2	166246006	166246006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctcttatgagcccattaCgaccacgttgaaacgcaaac	7	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:166246006C>T	uc002udc.3	+	26	5980	c.5690C>T	c.(5689-5691)aCg>aTg	p.T1897M	SCN2A_uc002udd.3_Missense_Mutation_p.T1897M|SCN2A_uc002ude.3_Missense_Mutation_p.T1897M|SCN2A_uc021vry.1_Missense_Mutation_p.T397M	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1897					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GAGCCCATTACGACCACGTTG	0.453													T	166246006	C	T	166246006	3	4	4	1	0	0	0	0	1	0	0	0	13916	536	19	1	5888	1	SCN2A	2	166246006	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	93590	166246006	76953367	587	2652											
CSRNP3	80034	broad.mit.edu	37	chr2	166514297	166514297	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattctcaaaagggagaaaCgactgaggacaaagaatgta	10	7	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:166514297C>T	uc002udf.3	+	4	551	c.175C>T	c.(175-177)Cga>Tga	p.R59*	CSRNP3_uc002udg.3_Nonsense_Mutation_p.R59*	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	59					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AAGGGAGAAACGACTGAGGAC	0.468													T	166514297	C	T	166514297	4	4	4	1	0	0	0	0	0	1	0	0	3965	528	19	1	181	1	CSRNP3	2	166514297	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	268291	166514297	76685076	588	2653											
TTC21B	79809	broad.mit.edu	37	chr2	166797676	166797676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacctgaataattctggcGcatctcaaggcattgtgcct	10	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:166797676G>A	uc002udk.3	-	5	704	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	TTC21B_uc002udl.3_Missense_Mutation_p.R191C|LOC100506134_uc021vsa.1_Intron|LOC100506134_uc002udm.2_Intron	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.	191						cilium axoneme|cytoplasm|cytoskeleton	binding	p.R191H(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TAATTCTGGCGCATCTCAAGG	0.408													A	166797676	G	A	166797676	3	1	4	1	0	0	0	0	1	0	0	0	16685	1087	38	1	3475	1	TTC21B	2	166797676	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	283379	166797676	76401697	589	2654											
SCN1A	6323	broad.mit.edu	37	chr2	166900484	166900484	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatcccacatcctttgctcGccctctaaagctgaaaaggc	7	14	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:166900484G>A	uc002udo.4	-	12	1965	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*	SCN1A_uc010fpk.3_Nonsense_Mutation_p.R580*|SCN1A_uc021vsb.1_Nonsense_Mutation_p.R580*	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	580						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCCTTTGCTCGCCCTCTAAAG	0.478													A	166900484	G	A	166900484	4	1	4	1	0	0	0	0	0	1	0	0	13914	1095	38	1	4355	1	SCN1A	2	166900484	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	102808	166900484	76298889	590	2655											
SCN9A	6335	broad.mit.edu	37	chr2	167133677	167133677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagtcatcattgatcttgCagacacattctttgtagctc	6	10	4	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:167133677C>T	uc010fpl.3	-	15	2998	c.2657G>A	c.(2656-2658)tGc>tAc	p.C886Y	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	897						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATTGATCTTGCAGACACATTC	0.502													T	167133677	C	T	167133677	3	4	4	1	0	0	0	0	1	0	0	0	13925	710	25	2	3324	2	SCN9A	2	167133677	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	233193	167133677	76065696	591	2656											
SCN9A	6335	broad.mit.edu	37	chr2	167133746	167133746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaaatgaagacgatgatgGccaacactaaggtgaggtta	11	6	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:167133746G>A	uc010fpl.3	-	15	2929	c.2588C>T	c.(2587-2589)gCc>gTc	p.A863V	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	874						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L862L(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GACGATGATGGCCAACACTAA	0.463													A	167133746	G	A	167133746	3	1	4	1	0	0	0	0	1	0	0	0	13925	1203	42	2	3393	2	SCN9A	2	167133746	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	69	167133746	76065627	592	2657											
SCN7A	6332	broad.mit.edu	37	chr2	167298020	167298020	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctccacagagaattcggaaCacattcaggaaggagtggaa	11	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:167298020C>G	uc002udu.2	-	13	2173	c.2043G>C	c.(2041-2043)gtG>gtC	p.V681V	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	681					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GAATTCGGAACACATTCAGGA	0.443													G	167298020	C	G	167298020	2	3	4	1	0	0	0	0	0	0	0	1	13923	465	17	5		5	SCN7A	2	167298020	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	164274	167298020	75901353	593	2658											
XIRP2	129446	broad.mit.edu	37	chr2	168099163	168099163	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgtttcaaccagccagaggAaggaaacatcaactacaaga	9	10	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:168099163A>G	uc002udx.3	+	8	1350	c.1261A>G	c.(1261-1263)Aag>Gag	p.K421E	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.K246E|XIRP2_uc010fpq.3_Missense_Mutation_p.K199E|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	246					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGCCAGAGGAAGGAAACATC	0.413													G	168099163	A	G	168099163	3	3	4	1	0	0	0	0	1	0	0	0	17427	247	9	3	1291	3	XIRP2	2	168099163	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	801143	168099163	75100210	594	2659											
XIRP2	129446	broad.mit.edu	37	chr2	168107993	168107993	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagaaacaaaccataacaTacaacaagaaagtcgtacat	7	8	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:168107993T>C	uc002udx.3	+	8	10180	c.10091T>C	c.(10090-10092)aTa>aCa	p.I3364T	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.I3189T|XIRP2_uc010fpq.3_Missense_Mutation_p.I3142T|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3189					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACCATAACATACAACAAGAA	0.358													C	168107993	T	C	168107993	3	2	4	1	0	0	0	0	1	0	0	0	17427	1406	49	3	10121	3	XIRP2	2	168107993	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	8830	168107993	75091380	595	2660											
LRP2	4036	broad.mit.edu	37	chr2	170026232	170026232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaatcagcttcatcagacGcatccaaacagtcagcggat	8	12	4	1	rs142613924		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:170026232G>A	uc002ues.3	-	59	11690	c.11477C>T	c.(11476-11478)gCg>gTg	p.A3826V		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3826	LDL-receptor class A 33.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTCATCAGACGCATCCAAACA	0.453													A	170026232	G	A	170026232	3	1	4	1	0	0	0	0	1	0	0	0	8956	1087	38	1	2570	1	LRP2	2	170026232	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1918239	170026232	73173141	596	2661											
LRP2	4036	broad.mit.edu	37	chr2	170037982	170037982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaacccaggtgggcatctGcccagtagagtagatcattg	12	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:170037982G>A	uc002ues.3	-	51	10358	c.10145C>T	c.(10144-10146)gCa>gTa	p.A3382V		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3382					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTGGGCATCTGCCCAGTAGAG	0.408													A	170037982	G	A	170037982	3	1	4	1	0	0	0	0	1	0	0	0	8956	1319	46	2	3934	2	LRP2	2	170037982	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	11750	170037982	73161391	597	2662											
LRP2	4036	broad.mit.edu	37	chr2	170048452	170048452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcagtacaatccacatcGccatcacagacccaagactg	6	16	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:170048452G>A	uc002ues.3	-	47	9135	c.8922C>T	c.(8920-8922)ggC>ggT	p.G2974G		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2974	LDL-receptor class A 22.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.G2974G(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AATCCACATCGCCATCACAGA	0.478													A	170048452	G	A	170048452	2	1	4	1	0	0	0	0	0	0	0	1	8956	1074	38	1		1	LRP2	2	170048452	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	10470	170048452	73150921	598	2663											
LRP2	4036	broad.mit.edu	37	chr2	170058336	170058336	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaagagtattggacacatcGcccattggcacaggtgaagg	13	8	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:170058336G>A	uc002ues.3	-	43	8467	c.8254C>T	c.(8254-8256)Cga>Tga	p.R2752*		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2752	LDL-receptor class A 17.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGGACACATCGCCCATTGGCA	0.478													A	170058336	G	A	170058336	4	1	4	1	0	0	0	0	0	1	0	0	8956	1095	38	1	5857	1	LRP2	2	170058336	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	9884	170058336	73141037	599	2664											
LRP2	4036	broad.mit.edu	37	chr2	170129448	170129448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcttaccaatgcagtggCgctcatctgtatccagttgg	9	11	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:170129448C>T	uc002ues.3	-	14	2318	c.2105G>A	c.(2104-2106)cGc>cAc	p.R702H	LRP2_uc010zdf.1_Missense_Mutation_p.R633H	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	702	EGF-like 3.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AATGCAGTGGCGCTCATCTGT	0.483													T	170129448	C	T	170129448	3	4	4	1	0	0	0	0	1	0	0	0	8956	768	27	1	12122	1	LRP2	2	170129448	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	71112	170129448	73069925	600	2665											
KBTBD10	10324	broad.mit.edu	37	chr2	170344508	170344508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttacagaaattacgaggCcaaactgaagctctctatat	6	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:170344508C>T	uc010zdh.1	+	4	328	c.270C>T	c.(268-270)ggC>ggT	p.G90G	KBTBD10_uc002uet.3_Silent_p.G90G|KBTBD10_uc010fpw.3_Silent_p.G90G	NM_152384	NP_689597	O60662	KBTBA_HUMAN	Homo sapiens Bardet-Biedl syndrome 5 (BBS5), mRNA.	0	BTB.				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						AATTACGAGGCCAAACTGAAG	0.299													T	170344508	C	T	170344508	2	4	4	1	0	0	0	0	0	0	0	1	7990	726	26	2		2	KBTBD10	2	170344508	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	215060	170344508	72854865	601	2666											
MYO3B	140469	broad.mit.edu	37	chr2	171264268	171264268	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttgagaaaaatagagacaCtctccctgccgatgtggttg	10	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:171264268C>A	uc002ufy.3	+	21	2707	c.2564C>A	c.(2563-2565)aCt>aAt	p.T855N	MYO3B_uc002ufv.3_Missense_Mutation_p.T842N|MYO3B_uc010fqb.1_Missense_Mutation_p.T855N|MYO3B_uc002ufz.3_Missense_Mutation_p.T855N|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	855	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AATAGAGACACTCTCCCTGCC	0.458													A	171264268	C	A	171264268	3	1	4	1	0	0	0	0	1	0	0	0	10077	565	20	5	2650	5	MYO3B	2	171264268	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	919760	171264268	71935105	602	2667											
SP5	389058	broad.mit.edu	37	chr2	171573002	171573002	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcccagcttggggctgacGccgcagaagacgcacctgca	12	15	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:171573002G>A	uc002uge.3	+	1	451	c.285G>A	c.(283-285)acG>acA	p.T95T	LOC440925_uc002ugd.2_5'Flank	NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN	Homo sapiens Sp5 transcription factor (SP5), mRNA.	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						TGGGGCTGACGCCGCAGAAGA	0.716													A	171573002	G	A	171573002	2	1	4	1	0	0	0	0	0	0	0	1	14967	1074	38	1		1	SP5	2	171573002	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	308734	171573002	71626371	603	2668											
SLC25A12	8604	broad.mit.edu	37	chr2	172641950	172641950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaggaaggtctgcaatgCgtgacttaggtgttggttct	15	6	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:172641950C>T	uc002uhh.2	-	17	1960	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	SLC25A12_uc010fqh.2_Missense_Mutation_p.R517H	NM_003705	NP_003696	O75746	CMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12), nuclear gene encoding mitochondrial protein, mRNA.	624					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding|protein binding	p.R624H(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GTCTGCAATGCGTGACTTAGG	0.502													T	172641950	C	T	172641950	3	4	4	1	0	0	0	0	1	0	0	0	14474	768	27	1	169	1	SLC25A12	2	172641950	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1068948	172641950	70557423	604	2669											
DLX2	1746	broad.mit.edu	37	chr2	172966308	172966308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaactggagtagatggtgCggggtttccggactttcttt	15	6	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:172966308C>T	uc002uhn.3	-	1	679	c.467G>A	c.(466-468)cGc>cAc	p.R156H	DLX2_uc010zdx.1_Missense_Mutation_p.R156H	NM_004405	NP_004396	Q07687	DLX2_HUMAN	Homo sapiens distal-less homeobox 2 (DLX2), mRNA.	156						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GTAGATGGTGCGGGGTTTCCG	0.547													T	172966308	C	T	172966308	3	4	4	1	0	0	0	0	1	0	0	0	4571	768	27	1	527	1	DLX2	2	172966308	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	324358	172966308	70233065	605	2670											
PDK1	5163	broad.mit.edu	37	chr2	173429383	173429383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatcgattctacatgagtcGcatttcaattagaatgttac	8	7	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:173429383G>A	uc002uhs.3	+	3	663	c.563G>A	c.(562-564)cGc>cAc	p.R188H	PDK1_uc010zdz.1_Missense_Mutation_p.R33H|PDK1_uc010zea.1_Non-coding_Transcript|PDK1_uc002uhq.1_Missense_Mutation_p.R208H|PDK1_uc010zeb.2_Missense_Mutation_p.R208H	NM_002610	NP_002601	Q15118	PDK1_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 1 (PDK1), nuclear gene encoding mitochondrial protein, mRNA.	188	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TACATGAGTCGCATTTCAATT	0.398									Autosomal Dominant Polycystic Kidney Disease				A	173429383	G	A	173429383	3	1	4	1	0	0	0	0	1	0	0	0	11675	1087	38	1	577	1	PDK1	2	173429383	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	463075	173429383	69769990	606	2671											
SP3	6670	broad.mit.edu	37	chr2	174774752	174774752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatatcttgattgctggtggCggaagtattaacagttccta	11	6	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:174774752C>T	uc002uig.3	-	6	2794	c.2263G>A	c.(2263-2265)Gcc>Acc	p.A755T	SP3_uc002uie.3_Missense_Mutation_p.A687T|SP3_uc002uif.3_Missense_Mutation_p.A702T|SP3_uc010zel.2_Missense_Mutation_p.A752T	NM_003111	NP_003102	Q02447	SP3_HUMAN	Homo sapiens Sp3 transcription factor (SP3), transcript variant 1, mRNA.	755					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TTGCTGGTGGCGGAAGTATTA	0.388													T	174774752	C	T	174774752	3	4	4	1	0	0	0	0	1	0	0	0	14965	768	27	1	86	1	SP3	2	174774752	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1345369	174774752	68424621	607	2672											
GPR155	151556	broad.mit.edu	37	chr2	175346233	175346233	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaattaacttacctatagggTatcccaatgcaaagtcatta	5	8	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:175346233T>C	uc002uit.3	-	2	843	c.452A>G	c.(451-453)tAc>tGc	p.Y151C	GPR155_uc002uiu.3_Missense_Mutation_p.Y151C|GPR155_uc002uiv.3_Missense_Mutation_p.Y151C|GPR155_uc010fqs.3_Missense_Mutation_p.Y151C	NM_001033045	NP_689742	Q7Z3F1	GP155_HUMAN	Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.	151					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ACCTATAGGGTATCCCAATGC	0.299													C	175346233	T	C	175346233	3	2	4	1	0	0	0	0	1	0	0	0	6660	1638	57	3	2220	3	GPR155	2	175346233	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	571481	175346233	67853140	608	2673											
KIAA1715	80856	broad.mit.edu	37	chr2	176794704	176794704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcatttactactctgcCgtcaaagattctccacttag	7	11	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:176794704C>T	uc010fqw.1	-	12	1476	c.1476G>A	c.(1474-1476)acG>acA	p.T492T	KIAA1715_uc010zes.1_Silent_p.T428T|KIAA1715_uc002ukd.1_Silent_p.T303T|KIAA1715_uc002ukc.1_Silent_p.T426T|KIAA1715_uc010zer.1_Silent_p.T457T|KIAA1715_uc010zet.1_Non-coding_Transcript			Q9C0E8	LNP_HUMAN	Homo sapiens KIAA1715 (KIAA1715), mRNA.	426						integral to membrane	protein binding	p.T426T(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			ACTACTCTGCCGTCAAAGATT	0.428													T	176794704	C	T	176794704	2	4	4	1	0	0	0	0	0	0	0	1	8254	639	23	1		1	KIAA1715	2	176794704	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1448471	176794704	66404669	609	2674											
HOXD13	3239	broad.mit.edu	37	chr2	176958345	176958345	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgggtggaacagccaggtgTactgcaccaaggaccagcca	13	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:176958345T>C	uc002ukf.1	+	0	814	c.727T>C	c.(727-729)Tac>Cac	p.Y243H		NM_000523	NP_000514	P35453	HXD13_HUMAN	Homo sapiens homeobox D13 (HOXD13), mRNA.	243					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		CAGCCAGGTGTACTGCACCAA	0.612			T	NUP98	AML*								C	176958345	T	C	176958345	3	2	4	1	0	0	0	0	1	0	0	0	7322	1638	57	3	729	3	HOXD13	2	176958345	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	163641	176958345	66241028	610	2675											
HOXD10	3236	broad.mit.edu	37	chr2	176982113	176982113	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagctcaaccctcgtggCgcggccaagccgcagctctc	10	19	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:176982113C>T	uc002ukj.3	+	0	622	c.552C>T	c.(550-552)ggC>ggT	p.G184G		NM_002148	NP_002139	P28358	HXD10_HUMAN	Homo sapiens homeobox D10 (HOXD10), mRNA.	184						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		ACCCTCGTGGCGCGGCCAAGC	0.587													T	176982113	C	T	176982113	2	4	4	1	0	0	0	0	0	0	0	1	7319	755	27	1		1	HOXD10	2	176982113	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	23768	176982113	66217260	611	2676											
HOXD3	3232	broad.mit.edu	37	chr2	177036882	177036882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggactacagttgcgccgcGcagattccaggcaaccacca	11	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:177036882G>A	uc002ukt.1	+	2	1355	c.1179G>A	c.(1177-1179)gcG>gcA	p.A393A		NM_006898	NP_008829	P31249	HXD3_HUMAN	Homo sapiens homeobox D3 (HOXD3), mRNA.	393					Notch signaling pathway|anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GTTGCGCCGCGCAGATTCCAG	0.657													A	177036882	G	A	177036882	2	1	4	1	0	0	0	0	0	0	0	1	7323	1074	38	1		1	HOXD3	2	177036882	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	54769	177036882	66162491	612	2677											
PDE11A	50940	broad.mit.edu	37	chr2	178879125	178879125	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactgcttcggataggcatGcacaataatgattttgtctt	8	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:178879125G>A	uc002ulq.3	-	1	1293	c.975C>T	c.(973-975)tgC>tgT	p.C325C	PDE11A_uc002ulr.3_Silent_p.C75C|PDE11A_uc002ult.1_Silent_p.C75C	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	325	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GGATAGGCATGCACAATAATG	0.378									Primary Pigmented Nodular Adrenocortical Disease, Familial				A	178879125	G	A	178879125	2	1	4	1	0	0	0	0	0	0	0	1	11631	1311	46	2		2	PDE11A	2	178879125	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1842243	178879125	64320248	613	2678											
PDE11A	50940	broad.mit.edu	37	chr2	178936644	178936644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactctcgattccagcagcGcactgagaatatgggctgtg	11	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:178936644G>A	uc002ulq.3	-	0	839	c.521C>T	c.(520-522)gCg>gTg	p.A174V	PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	174					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TTCCAGCAGCGCACTGAGAAT	0.562									Primary Pigmented Nodular Adrenocortical Disease, Familial				A	178936644	G	A	178936644	3	1	4	1	0	0	0	0	1	0	0	0	11631	1087	38	1	2360	1	PDE11A	2	178936644	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	57519	178936644	64262729	614	2679											
OSBPL6	114880	broad.mit.edu	37	chr2	179214085	179214085	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaacagattatacaaagctGcaagaagaattttgtctaat	6	6	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179214085G>A	uc002uly.3	+	12	1741	c.1197G>A	c.(1195-1197)ctG>ctA	p.L399L	OSBPL6_uc002ulw.3_Silent_p.L343L|OSBPL6_uc002ulx.3_Silent_p.L374L|OSBPL6_uc010zfe.2_Silent_p.L343L|OSBPL6_uc002ulz.3_Silent_p.L374L|OSBPL6_uc002uma.3_Silent_p.L378L	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	374					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			ATACAAAGCTGCAAGAAGAAT	0.398													A	179214085	G	A	179214085	2	1	4	1	0	0	0	0	0	0	0	1	11281	1306	46	2		2	OSBPL6	2	179214085	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	277441	179214085	63985288	615	2680											
PRKRA	8575	broad.mit.edu	37	chr2	179300958	179300958	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatttggaatactaaggAggcttcttttcagtaagttg	10	5	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179300958A>G	uc002umf.3	-	6	899	c.698T>C	c.(697-699)cTc>cCc	p.L233P	MIR548N_uc021vsx.1_Intron|PRKRA_uc002umc.3_Missense_Mutation_p.L65P|PRKRA_uc002umd.3_Missense_Mutation_p.L208P|PRKRA_uc002ume.3_Missense_Mutation_p.L222P|PRKRA_uc002umg.3_Missense_Mutation_p.L120P|PRKRA_uc002umh.1_5'Flank	NM_003690	NP_001132990	O75569	PRKRA_HUMAN	Homo sapiens protein kinase, interferon-inducible double stranded RNA dependent activator (PRKRA), transcript variant 1, mRNA.	233	Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			AATACTAAGGAGGCTTCTTTT	0.338													G	179300958	A	G	179300958	3	3	4	1	0	0	0	0	1	0	0	0	12524	304	11	3	251	3	PRKRA	2	179300958	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	86873	179300958	63898415	616	2681											
PRKRA	8575	broad.mit.edu	37	chr2	179312289	179312289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctgcagctctatgtttcGccagcttcttacttgtacct	6	14	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179312289G>A	uc002umf.3	-	2	461	c.260C>T	c.(259-261)gCg>gTg	p.A87V	MIR548N_uc021vsx.1_Intron|PRKRA_uc002umd.3_Missense_Mutation_p.A62V|PRKRA_uc002ume.3_Missense_Mutation_p.A76V|PRKRA_uc002umg.3_5'UTR	NM_003690	NP_001132990	O75569	PRKRA_HUMAN	Homo sapiens protein kinase, interferon-inducible double stranded RNA dependent activator (PRKRA), transcript variant 1, mRNA.	87	DRBM 1.|Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TCTATGTTTCGCCAGCTTCTT	0.353													A	179312289	G	A	179312289	3	1	4	1	0	0	0	0	1	0	0	0	12524	1087	38	1	705	1	PRKRA	2	179312289	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	11331	179312289	63887084	617	2682											
DFNB59	494513	broad.mit.edu	37	chr2	179325727	179325727	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatagaagagtgatggatgTcatttctcgttcacagcttt	10	6	3	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179325727T>C	uc002umi.4	+	6	1141	c.785T>C	c.(784-786)gTc>gCc	p.V262A	MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Missense_Mutation_p.V262A	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA.	262					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			GTGATGGATGTCATTTCTCGT	0.333													C	179325727	T	C	179325727	3	2	4	1	0	0	0	0	1	0	0	0	4456	1667	58	3	807	3	DFNB59	2	179325727	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	13438	179325727	63873646	618	2683											
TTN	7273	broad.mit.edu	37	chr2	179393094	179393094	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgctgactgatgcatttcGgatttcaagggagtatacat	11	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179393094G>A	uc021vsy.1	-	309	99805	c.99580C>T	c.(99580-99582)Cga>Tga	p.R33194*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R26889*|TTN_uc021vta.1_Nonsense_Mutation_p.R26822*|TTN_uc021vtb.1_Nonsense_Mutation_p.R26697*|TTN_uc002umq.3_Nonsense_Mutation_p.R211*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	34121							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGCATTTCGGATTTCAAGG	0.393													A	179393094	G	A	179393094	4	1	4	1	0	0	0	0	0	1	0	0	16732	1124	39	1	703	1	TTN	2	179393094	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	67367	179393094	63806279	619	2684											
TTN	7273	broad.mit.edu	37	chr2	179404438	179404438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgaccttgatgtagacaGccttcttgccacatttattt	6	12	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179404438G>A	uc021vsy.1	-	300	90875	c.90650C>T	c.(90649-90651)gCt>gTt	p.A30217V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A23912V|TTN_uc021vta.1_Missense_Mutation_p.A23845V|TTN_uc021vtb.1_Missense_Mutation_p.A23720V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31144	Fibronectin type-III 120.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGTAGACAGCCTTCTTGCC	0.488													A	179404438	G	A	179404438	3	1	4	1	0	0	0	0	1	0	0	0	16732	971	34	2	9669	2	TTN	2	179404438	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	11344	179404438	63794935	620	2685											
TTN	7273	broad.mit.edu	37	chr2	179412259	179412259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgactttaatttgagtgCgcttgacactggaattgaca	11	6	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179412259C>T	uc021vsy.1	-	287	86615	c.86390G>A	c.(86389-86391)cGc>cAc	p.R28797H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R22492H|TTN_uc021vta.1_Missense_Mutation_p.R22425H|TTN_uc021vtb.1_Missense_Mutation_p.R22300H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29724	Fibronectin type-III 110.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R22425H(1)|p.R28795H(1)|p.R22492H(1)|p.R22300H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTGAGTGCGCTTGACACT	0.408													T	179412259	C	T	179412259	3	4	4	1	0	0	0	0	1	0	0	0	16732	768	27	1	13981	1	TTN	2	179412259	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	7821	179412259	63787114	621	2686											
TTN	7273	broad.mit.edu	37	chr2	179417232	179417232	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccagggatatctgacaggTcaacttcaggtgtaataata	9	9	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179417232T>C	uc021vsy.1	-	283	82916	c.82691A>G	c.(82690-82692)gAc>gGc	p.D27564G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D21259G|TTN_uc021vta.1_Missense_Mutation_p.D21192G|TTN_uc021vtb.1_Missense_Mutation_p.D21067G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28491	Fibronectin type-III 100.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTGACAGGTCAACTTCAGG	0.433													C	179417232	T	C	179417232	3	2	4	1	0	0	0	0	1	0	0	0	16732	1667	58	3	17696	3	TTN	2	179417232	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	4973	179417232	63782141	622	2687											
TTN	7273	broad.mit.edu	37	chr2	179417976	179417976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttcaatgctgtatctgGcatcactgccaagattcttc	7	10	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179417976G>A	uc021vsy.1	-	283	82172	c.81947C>T	c.(81946-81948)gCc>gTc	p.A27316V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A21011V|TTN_uc021vta.1_Missense_Mutation_p.A20944V|TTN_uc021vtb.1_Missense_Mutation_p.A20819V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28243	Fibronectin type-III 99.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGTATCTGGCATCACTGCC	0.403													A	179417976	G	A	179417976	3	1	4	1	0	0	0	0	1	0	0	0	16732	1203	42	2	18440	2	TTN	2	179417976	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	744	179417976	63781397	623	2688											
TTN	7273	broad.mit.edu	37	chr2	179422671	179422671	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccagttggaggaccaggcCtgtctagcacaacaatgtta	12	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179422671C>A	uc021vsy.1	-	276	79931	c.79706G>T	c.(79705-79707)aGg>aTg	p.R26569M	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R20264M|TTN_uc021vta.1_Missense_Mutation_p.R20197M|TTN_uc021vtb.1_Missense_Mutation_p.R20072M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27496	Fibronectin type-III 93.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGACCAGGCCTGTCTAGCAC	0.448													A	179422671	C	A	179422671	3	1	4	1	0	0	0	0	1	0	0	0	16732	681	24	5	20709	5	TTN	2	179422671	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4695	179422671	63776702	624	2689											
TTN	7273	broad.mit.edu	37	chr2	179444834	179444834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatttcctctctgcatcacGtttttgtaccacatagttta	6	10	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179444834G>A	uc021vsy.1	-	266	59701	c.59476C>T	c.(59476-59478)Cgt>Tgt	p.R19826C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R13521C|TTN_uc021vta.1_Missense_Mutation_p.R13454C|TTN_uc021vtb.1_Missense_Mutation_p.R13329C|AX746670_uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20753	Ig-like 110.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGCATCACGTTTTTGTACC	0.443													A	179444834	G	A	179444834	3	1	4	1	0	0	0	0	1	0	0	0	16732	1145	40	1	40979	1	TTN	2	179444834	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	22163	179444834	63754539	625	2690											
TTN	7273	broad.mit.edu	37	chr2	179450022	179450022	+	Frame_Shift_Del	DEL	T	T	-													acatgggcttcaattcggagTtttttcccagctttgatagt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179450021_179450021GT>G	uc021vsy.1	-	257	56971	c.56746_56746AC>C	c.(56746-56748)ctcfs	p.L18916fs	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.L12611fs|TTN_uc021vta.1_Frame_Shift_Del_p.L12544fs|TTN_uc021vtb.1_Frame_Shift_Del_p.L12419fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19843	Ig-like 107.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAATTCGGAGTTTTTTCCCA	0.403													-	179450022	T	-	179450022	7	5	4	1	0	1	0	1	0	0	0	0	16732	1722	60	0	43746	0	TTN	2	179450022	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	5188	179450022	63749351	626	2691											
TTN	7273	broad.mit.edu	37	chr2	179498195	179498195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagtcacacacatattcGcctttatctttaaggtccgc	5	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179498195G>A	uc021vsy.1	-	180	35412	c.35187C>T	c.(35185-35187)ggC>ggT	p.G11729G	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.G5424G|TTN_uc021vta.1_Silent_p.G5357G|TTN_uc021vtb.1_Silent_p.G5232G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12656	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACATATTCGCCTTTATCTT	0.428													A	179498195	G	A	179498195	2	1	4	1	0	0	0	0	0	0	0	1	16732	1074	38	1		1	TTN	2	179498195	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	48173	179498195	63701178	627	2692											
TTN	7273	broad.mit.edu	37	chr2	179549074	179549074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctcttgcttttggaggcGcctcttttttagttacagca	8	10	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179549074G>A	uc021vsy.1	-	128	29198	c.28973C>T	c.(28972-28974)gCg>gTg	p.A9658V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A6319V|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10585							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTGGAGGCGCCTCTTTTTT	0.398													A	179549074	G	A	179549074	3	1	4	1	0	0	0	0	1	0	0	0	16732	1087	38	1	71748	1	TTN	2	179549074	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	50879	179549074	63650299	628	2693											
TTN	7273	broad.mit.edu	37	chr2	179575896	179575896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaaaaatattgagtgtgGctgtattgtctaaaaatgat	8	2	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179575896G>A	uc021vsy.1	-	93	24560	c.24335C>T	c.(24334-24336)gCc>gTc	p.A8112V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A4773V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9039	Ig-like 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGAGTGTGGCTGTATTGTC	0.448													A	179575896	G	A	179575896	3	1	4	1	0	0	0	0	1	0	0	0	16732	1203	42	2	76526	2	TTN	2	179575896	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	26822	179575896	63623477	629	2694											
TTN	7273	broad.mit.edu	37	chr2	179582535	179582535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaaaggtggaagtttgcGcgctgtaaagaagttacaga	13	4	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179582535G>A	uc021vsy.1	-	83	21559	c.21334C>T	c.(21334-21336)Cgc>Tgc	p.R7112C	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3773C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8039	Ig-like 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R7112G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAAGTTTGCGCGCTGTAAAG	0.378													A	179582535	G	A	179582535	3	1	4	1	0	0	0	0	1	0	0	0	16732	1087	38	1	79567	1	TTN	2	179582535	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	6639	179582535	63616838	630	2695											
TTN	7273	broad.mit.edu	37	chr2	179597674	179597674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatctccaaagaggctgtgCcttccacaaatgctatcctg	8	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179597674C>T	uc021vsy.1	-	51	12722	c.12497G>A	c.(12496-12498)gGc>gAc	p.G4166D	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G827D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5093							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGGCTGTGCCTTCCACAAA	0.488													T	179597674	C	T	179597674	3	4	4	1	0	0	0	0	1	0	0	0	16732	739	26	2	88532	2	TTN	2	179597674	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	15139	179597674	63601699	631	2696											
TTN	7273	broad.mit.edu	37	chr2	179633400	179633400	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taatatgtatgaaaccatacCttccacataaagtgtggctg	7	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179633400C>A	uc021vsy.1	-	38	9388	c.9163_splice	c.e38+1	p.A3055_splice	TTN_uc021vsz.1_Splice_Site_p.A3009_splice|TTN_uc021vta.1_Splice_Site_p.A3009_splice|TTN_uc021vtb.1_Splice_Site_p.A3009_splice|TTN_uc002unb.2_Splice_Site_p.A3055_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3055							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAACCATACCTTCCACATAA	0.358													A	179633400	C	A	179633400	5	1	4	1	0	0	0	0	0	0	1	0	16732	695	24	5	102125	5	TTN	2	179633400	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	35726	179633400	63565973	632	2697											
TTN	7273	broad.mit.edu	37	chr2	179640598	179640598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcgcttgaatttactgCgcagctcttccgactcttca	7	13	4	1	rs144135510	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179640598C>T	uc021vsy.1	-	27	6218	c.5993G>A	c.(5992-5994)cGc>cAc	p.R1998H	TTN_uc021vsz.1_Missense_Mutation_p.R1952H|TTN_uc021vta.1_Missense_Mutation_p.R1952H|TTN_uc021vtb.1_Missense_Mutation_p.R1952H|TTN_uc002unb.2_Missense_Mutation_p.R1998H|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1998			R -> H.				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATTTACTGCGCAGCTCTTC	0.453													T	179640598	C	T	179640598	3	4	4	1	0	0	0	0	1	0	0	0	16732	768	27	1	105335	1	TTN	2	179640598	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	7198	179640598	63558775	633	2698											
TTN	7273	broad.mit.edu	37	chr2	179648867	179648867	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccagtgatgctcacccctActtcctttttcacctcaacg	5	16	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179648867A>G	uc021vsy.1	-	15	2930	c.2705T>C	c.(2704-2706)gTa>gCa	p.V902A	TTN_uc021vsz.1_Missense_Mutation_p.V856A|TTN_uc021vta.1_Missense_Mutation_p.V856A|TTN_uc021vtb.1_Missense_Mutation_p.V856A|TTN_uc002unb.2_Missense_Mutation_p.V902A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	902							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G902S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCACCCCTACTTCCTTTTT	0.547													G	179648867	A	G	179648867	3	3	4	1	0	0	0	0	1	0	0	0	16732	391	14	3	108671	3	TTN	2	179648867	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	8269	179648867	63550506	634	2699											
TTN	7273	broad.mit.edu	37	chr2	179648990	179648990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgggcttcacagtaggaGccttcaccgatttggtgatc	11	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179648990G>A	uc021vsy.1	-	15	2807	c.2582C>T	c.(2581-2583)gCt>gTt	p.A861V	TTN_uc021vsz.1_Missense_Mutation_p.A815V|TTN_uc021vta.1_Missense_Mutation_p.A815V|TTN_uc021vtb.1_Missense_Mutation_p.A815V|TTN_uc002unb.2_Missense_Mutation_p.A861V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	861							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACAGTAGGAGCCTTCACCGA	0.493													A	179648990	G	A	179648990	3	1	4	1	0	0	0	0	1	0	0	0	16732	971	34	2	108794	2	TTN	2	179648990	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	123	179648990	63550383	635	2700											
TTN	7273	broad.mit.edu	37	chr2	179665162	179665162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgaagtagctcttccaacGctattggtggcatttactga	10	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179665162G>A	uc021vsy.1	-	3	768	c.543C>T	c.(541-543)agC>agT	p.S181S	TTN_uc021vsz.1_Silent_p.S181S|TTN_uc021vta.1_Silent_p.S181S|TTN_uc021vtb.1_Silent_p.S181S|TTN_uc002unb.2_Silent_p.S181S|TTN_uc002und.3_Silent_p.S181S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	181	Ig-like 2.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTTCCAACGCTATTGGTGG	0.468													A	179665162	G	A	179665162	2	1	4	1	0	0	0	0	0	0	0	1	16732	1078	38	1		1	TTN	2	179665162	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	16172	179665162	63534211	636	2701											
TTN	7273	broad.mit.edu	37	chr2	179666955	179666955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgttggctttagtcacggCggggatcgtcagtttagcgc	14	9	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179666955C>T	uc021vsy.1	-	2	430	c.205G>A	c.(205-207)Gcc>Acc	p.A69T	TTN_uc021vsz.1_Missense_Mutation_p.A69T|TTN_uc021vta.1_Missense_Mutation_p.A69T|TTN_uc021vtb.1_Missense_Mutation_p.A69T|TTN_uc002unb.2_Missense_Mutation_p.A69T|TTN_uc002und.3_Missense_Mutation_p.A69T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	69	Ig-like 1.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGTCACGGCGGGGATCGTC	0.547													T	179666955	C	T	179666955	3	4	4	1	0	0	0	0	1	0	0	0	16732	768	27	1	111223	1	TTN	2	179666955	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1793	179666955	63532418	637	2702											
CCDC141	285025	broad.mit.edu	37	chr2	179720245	179720245	+	Frame_Shift_Del	DEL	T	T	-													tcagaggttttattactaacTttttccattttccttttcaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179720244_179720244CT>C	uc002une.2	-	18	3008	c.2890_2890AG>G	c.(2890-2892)gttfs	p.V964fs	CCDC141_uc002unf.1_Frame_Shift_Del_p.V443fs	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	389							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTATTACTAACTTTTTCCATT	0.284													-	179720245	T	-	179720245	7	5	4	1	0	1	0	1	0	0	0	0	2775	1606	56	0	1483	0	CCDC141	2	179720245	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	53290	179720245	63479128	638	2703											
CCDC141	285025	broad.mit.edu	37	chr2	179732869	179732869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaatctgcacatcatgggCatcacccagttccttcggct	9	13	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179732869C>T	uc002une.2	-	15	2576	c.2458G>A	c.(2458-2460)Gcc>Acc	p.A820T	CCDC141_uc002unf.1_Missense_Mutation_p.A299T	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	245							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ACATCATGGGCATCACCCAGT	0.493													T	179732869	C	T	179732869	3	4	4	1	0	0	0	0	1	0	0	0	2775	710	25	2	1926	2	CCDC141	2	179732869	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	12624	179732869	63466504	639	2704											
SESTD1	91404	broad.mit.edu	37	chr2	179974726	179974726	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgcagtagaagccatgTcacttggactcccaaaatat	7	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179974726T>C	uc002uni.4	-	17	2141	c.1991A>G	c.(1990-1992)gAc>gGc	p.D664G	SESTD1_uc002unh.4_Missense_Mutation_p.D167G	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.	664					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGAAGCCATGTCACTTGGACT	0.373													C	179974726	T	C	179974726	3	2	4	1	0	0	0	0	1	0	0	0	14127	1667	58	3	103	3	SESTD1	2	179974726	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	241857	179974726	63224647	640	2705											
SESTD1	91404	broad.mit.edu	37	chr2	180047900	180047900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcaaaatgaggccactcCgtctgtcttttcctcctatt	6	12	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:180047900C>T	uc002uni.4	-	2	221	c.71G>A	c.(70-72)cGg>cAg	p.R24Q		NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.	24	CRAL-TRIO.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	p.R24W(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GAGGCCACTCCGTCTGTCTTT	0.348													T	180047900	C	T	180047900	3	4	4	1	0	0	0	0	1	0	0	0	14127	652	23	1	2083	1	SESTD1	2	180047900	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	73174	180047900	63151473	641	2706											
NEUROD1	4760	broad.mit.edu	37	chr2	182542954	182542954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgtacagggaaggaagCgctggccgtcggcaggtggg	22	7	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:182542954C>T	uc021vto.1	-	0	634	c.634G>A	c.(634-636)Gct>Act	p.A212T	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Missense_Mutation_p.A212T|NEUROD1_uc021vtn.1_Missense_Mutation_p.A212T	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	212					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GGGAAGGAAGCGCTGGCCGTC	0.622													T	182542954	C	T	182542954	3	4	4	1	0	0	0	0	1	0	0	0	10348	768	27	1	440	1	NEUROD1	2	182542954	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2495054	182542954	60656419	642	2707											
SSFA2	6744	broad.mit.edu	37	chr2	182786932	182786932	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcatcggtggctctaacGccaacagctccttctagaac	9	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:182786932G>A	uc002uoi.3	+	15	3790	c.3468G>A	c.(3466-3468)acG>acA	p.T1156T	SSFA2_uc002uoh.3_Silent_p.T1156T|SSFA2_uc002uoj.3_Silent_p.T1134T|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Silent_p.T981T|SSFA2_uc002uol.3_Silent_p.T1003T|SSFA2_uc002uom.3_Silent_p.T620T	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	1156						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TGGCTCTAACGCCAACAGCTC	0.502													A	182786932	G	A	182786932	2	1	4	1	0	0	0	0	0	0	0	1	15182	1074	38	1		1	SSFA2	2	182786932	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	243978	182786932	60412441	643	2708											
FRZB	2487	broad.mit.edu	37	chr2	183730941	183730941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacagccctgccgggcccGctcgcacacagacttacagg	10	18	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:183730941G>A	uc002upa.2	-	0	558	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	Homo sapiens frizzled-related protein (FRZB), mRNA.	114	FZ.				Wnt receptor signaling pathway|brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TGCCGGGCCCGCTCGCACACA	0.627													A	183730941	G	A	183730941	3	1	4	1	0	0	0	0	1	0	0	0	6065	1086	38	1	661	1	FRZB	2	183730941	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	944009	183730941	59468432	644	2709											
ZNF804A	91752	broad.mit.edu	37	chr2	185800759	185800759	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggattcacagacacaaaatCggcttttcttttgcatttcc	7	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:185800759C>T	uc002uph.3	+	3	1230	c.636C>T	c.(634-636)atC>atT	p.I212I		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	212						intracellular	zinc ion binding	p.I212I(2)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GACACAAAATCGGCTTTTCTT	0.438													T	185800759	C	T	185800759	2	4	4	1	0	0	0	0	0	0	0	1	18167	874	31	1		1	ZNF804A	2	185800759	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2069818	185800759	57398614	645	2710											
CALCRL	10203	broad.mit.edu	37	chr2	188247920	188247920	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctgcttgttgaatggggTcttgcataatcttttggtaa	10	6	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:188247920T>C	uc010frt.3	-	3	547	c.164A>G	c.(163-165)gAc>gGc	p.D55G	CALCRL_uc002upv.4_Missense_Mutation_p.D55G	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	55						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TTGAATGGGGTCTTGCATAAT	0.343													C	188247920	T	C	188247920	3	2	4	1	0	0	0	0	1	0	0	0	2580	1667	58	3	1265	3	CALCRL	2	188247920	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	2447161	188247920	54951453	646	2711											
SLC40A1	30061	broad.mit.edu	37	chr2	190445148	190445148	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaacgacactcaccacaGcatcctctctggcggttgtg	10	14	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:190445148G>A	uc002uqp.4	-	0	390	c.39C>T	c.(37-39)tgC>tgT	p.C13C	SLC40A1_uc002uqr.1_Non-coding_Transcript|SLC40A1_uc002uqs.1_Non-coding_Transcript|SLC40A1_uc002uqq.2_Silent_p.C13C|SLC40A1_uc010zfx.1_Non-coding_Transcript	NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	13					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			ACTCACCACAGCATCCTCTCT	0.587													A	190445148	G	A	190445148	2	1	4	1	0	0	0	0	0	0	0	1	14628	963	34	2		2	SLC40A1	2	190445148	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2197228	190445148	52754225	647	2712											
ANKAR	150709	broad.mit.edu	37	chr2	190593148	190593148	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctaaaatgcagtatgttggTaagttattttccttatttta	7	4	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:190593148T>A	uc002uqw.2	+	14	3119	c.3031_splice	c.e14+2	p.G1011_splice	ANKAR_uc002uqu.3_Splice_Site|ANKAR_uc002uqx.2_Splice_Site|ANKAR_uc002uqy.2_Splice_Site_p.G107_splice	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	1011						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AGTATGTTGGTAAGTTATTTT	0.353													A	190593148	T	A	190593148	5	1	4	1	0	0	0	0	0	0	1	0	623	1652	57	5	3083	5	ANKAR	2	190593148	Splice_Site	SNP	T	TCGA-BR-4184-01A-01D-1126-08	148000	190593148	52606225	648	2713											
PMS1	5378	broad.mit.edu	37	chr2	190660570	190660570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgatgcacctgtaatgGcaatgaagtactacacctca	8	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:190660570G>A	uc002urh.4	+	2	737	c.208G>A	c.(208-210)Gca>Aca	p.A70T	PMS1_uc010zga.1_Missense_Mutation_p.A70T|PMS1_uc010zgb.1_Intron|PMS1_uc002urk.4_Missense_Mutation_p.A70T|PMS1_uc002uri.4_Missense_Mutation_p.A70T|PMS1_uc010zgc.2_5'UTR|PMS1_uc010zgd.2_Intron|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Missense_Mutation_p.A70T|PMS1_uc010frz.3_Missense_Mutation_p.A70T|PMS1_uc010zfz.1_Missense_Mutation_p.A70T	NM_000534	NP_000525	P54277	PMS1_HUMAN	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.	70					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	p.M69L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			ACCTGTAATGGCAATGAAGTA	0.368			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)					A	190660570	G	A	190660570	3	1	4	1	0	0	0	0	1	0	0	0	12142	1203	42	2	214	2	PMS1	2	190660570	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	67422	190660570	52538803	649	2714											
MFSD6	54842	broad.mit.edu	37	chr2	191301521	191301521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctccccaggaagcgtaAccaaggagacaaccactgtt	9	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:191301521A>G	uc002urz.2	+	2	1090	c.766A>G	c.(766-768)Acc>Gcc	p.T256A		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.	256					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						AGGAAGCGTAACCAAGGAGAC	0.443													G	191301521	A	G	191301521	3	3	4	1	0	0	0	0	1	0	0	0	9535	43	2	3	768	3	MFSD6	2	191301521	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	640951	191301521	51897852	650	2715											
MFSD6	54842	broad.mit.edu	37	chr2	191301738	191301738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatcgctatgggttgcagcGcatgtggggctccctgggct	16	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:191301738G>A	uc002urz.2	+	2	1307	c.983G>A	c.(982-984)cGc>cAc	p.R328H		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.	328					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GGGTTGCAGCGCATGTGGGGC	0.537													A	191301738	G	A	191301738	3	1	4	1	0	0	0	0	1	0	0	0	9535	1087	38	1	985	1	MFSD6	2	191301738	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	217	191301738	51897635	651	2716											
STAT1	6772	broad.mit.edu	37	chr2	191851675	191851675	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgttgaacttcctaaatcTatacaatataggaaagaaat	5	5	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:191851675T>G	uc010fse.2	-	13	1560	c.1128_splice	c.e13-1	p.G376_splice	STAT1_uc021vue.1_Splice_Site_p.G188_splice|STAT1_uc002usj.2_Splice_Site_p.G376_splice|STAT1_uc002usk.2_Splice_Site_p.G376_splice|STAT1_uc002usl.2_Splice_Site_p.G378_splice|STAT1_uc010fsf.1_Splice_Site_p.G188_splice	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	376					I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TTCCTAAATCTATACAATATA	0.398													G	191851675	T	G	191851675	5	3	4	1	0	0	0	0	0	0	1	0	15263	1536	53	5	1178	5	STAT1	2	191851675	Splice_Site	SNP	T	TCGA-BR-4184-01A-01D-1126-08	549937	191851675	51347698	652	2717											
DNAH7	56171	broad.mit.edu	37	chr2	196673563	196673563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggattatccagtccaatgCcaccagttagcagaaatctc	7	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:196673563C>T	uc002utj.4	-	52	10027	c.9926G>A	c.(9925-9927)gGc>gAc	p.G3309D		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3309					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGTCCAATGCCACCAGTTAG	0.408													T	196673563	C	T	196673563	3	4	4	1	0	0	0	0	1	0	0	0	4606	739	26	2	2200	2	DNAH7	2	196673563	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4821888	196673563	46525810	653	2718											
DNAH7	56171	broad.mit.edu	37	chr2	196718175	196718175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctagctccagagctgtgtgGctccatcgagttttctcacc	9	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:196718175G>A	uc002utj.4	-	45	8774	c.8673C>T	c.(8671-8673)agC>agT	p.S2891S		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2891					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.W2890L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAGCTGTGTGGCTCCATCGAG	0.483													A	196718175	G	A	196718175	2	1	4	1	0	0	0	0	0	0	0	1	4606	1194	42	2		2	DNAH7	2	196718175	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	44612	196718175	46481198	654	2719											
DNAH7	56171	broad.mit.edu	37	chr2	196771409	196771409	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttatctggcagttctgatcGcccagcatacccagggttca	10	12	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:196771409G>A	uc002utj.4	-	26	4410	c.4309C>T	c.(4309-4311)Cga>Tga	p.R1437*		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1437	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGTTCTGATCGCCCAGCATAC	0.373													A	196771409	G	A	196771409	4	1	4	1	0	0	0	0	0	1	0	0	4606	1095	38	1	7921	1	DNAH7	2	196771409	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	53234	196771409	46427964	655	2720											
CCDC150	284992	broad.mit.edu	37	chr2	197521851	197521851	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccactctgaagattgcctcGcagacaaaggtttgagtcta	10	10	2	4	rs146046280	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:197521851G>A	uc002utp.1	+	3	702	c.567G>A	c.(565-567)tcG>tcA	p.S189S	CCDC150_uc002uto.1_Silent_p.S189S|CCDC150_uc010zgq.1_Non-coding_Transcript|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	189										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AGATTGCCTCGCAGACAAAGG	0.428													A	197521851	G	A	197521851	2	1	4	1	0	0	0	0	0	0	0	1	2785	1074	38	1		1	CCDC150	2	197521851	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	750442	197521851	45677522	656	2721											
PGAP1	80055	broad.mit.edu	37	chr2	197763060	197763060	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccacacaatggagaggtggtCtgttgagacccaggtcttag	13	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:197763060C>A	uc002utw.3	-	5	955	c.841G>T	c.(841-843)Gac>Tac	p.D281Y	PGAP1_uc002utx.3_Missense_Mutation_p.D107Y|PGAP1_uc002uty.1_Missense_Mutation_p.D281Y|PGAP1_uc010zgv.1_Non-coding_Transcript|PGAP1_uc010fsj.2_Missense_Mutation_p.D107Y	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	Homo sapiens post-GPI attachment to proteins 1 (PGAP1), mRNA.	281					C-terminal protein lipidation|attachment of GPI anchor to protein|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GAGAGGTGGTCTGTTGAGACC	0.353													A	197763060	C	A	197763060	3	1	4	1	0	0	0	0	1	0	0	0	11777	913	32	5	2015	5	PGAP1	2	197763060	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	241209	197763060	45436313	657	2722											
ANKRD44	91526	broad.mit.edu	37	chr2	197987425	197987425	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acattaatctgtccattggaGgctgcagcatgcagaggggt	13	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:197987425G>T	uc021vuj.1	-	6	835	c.642C>A	c.(640-642)gcC>gcA	p.A214A	ANKRD44_uc002utz.4_5'UTR|ANKRD44_uc021vuk.1_Silent_p.A189A|ANKRD44_uc002uub.3_Silent_p.A214A|ANKRD44_uc010zgw.2_Silent_p.A142A|ANKRD44_uc002uuc.3_Silent_p.A214A	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	214							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCCATTGGAGGCTGCAGCAT	0.458													T	197987425	G	T	197987425	2	4	4	1	0	0	0	0	0	0	0	1	672	987	35	5		5	ANKRD44	2	197987425	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	224365	197987425	45211948	658	2723											
PLCL1	5334	broad.mit.edu	37	chr2	198950276	198950276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agactccgggtccaatgatgGaccttcacacgggctggttt	12	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:198950276G>A	uc010fsp.3	+	1	2433	c.2035G>A	c.(2035-2037)Gac>Aac	p.D679N	PLCL1_uc002uuv.4_Missense_Mutation_p.D600N	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	679	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TCCAATGATGGACCTTCACAC	0.443													A	198950276	G	A	198950276	3	1	4	1	0	0	0	0	1	0	0	0	12039	1174	41	4	2041	4	PLCL1	2	198950276	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	962851	198950276	44249097	659	2724											
SATB2	23314	broad.mit.edu	37	chr2	200298074	200298074	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaataccttgggcctgggcCgcagagctgtgagaataccc	12	11	0	2	rs140116634		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:200298074C>T	uc002uuy.2	-	2	1150	c.333G>A	c.(331-333)gcG>gcA	p.A111A	SATB2_uc010fsq.2_Silent_p.A111A|SATB2_uc002uva.2_Silent_p.A111A|SATB2_uc002uuz.2_Silent_p.A111A	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	111						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGGCCTGGGCCGCAGAGCTGT	0.507													T	200298074	C	T	200298074	2	4	4	1	0	0	0	0	0	0	0	1	13854	639	23	1		1	SATB2	2	200298074	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1347798	200298074	42901299	660	2725											
KCTD18	130535	broad.mit.edu	37	chr2	201369584	201369584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagcctcttcctgtagggCgatgcgggtttgctcatctg	12	11	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:201369584C>T	uc002uvs.3	-	2	776	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	KCTD18_uc002uvt.3_Missense_Mutation_p.A87T|KCTD18_uc002uvu.1_Missense_Mutation_p.A87T	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 18 (KCTD18), mRNA.	87						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A87T(2)		endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TCCTGTAGGGCGATGCGGGTT	0.433													T	201369584	C	T	201369584	3	4	4	1	0	0	0	0	1	0	0	0	8105	768	27	1	1041	1	KCTD18	2	201369584	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1071510	201369584	41829789	661	2726											
SGOL2	151246	broad.mit.edu	37	chr2	201437568	201437568	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaatgataacaaaggtgtAcatgacctagaaaaagataa	9	4	0	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:201437568A>G	uc002uvw.2	+	6	2612	c.2499A>G	c.(2497-2499)gtA>gtG	p.V833V	SGOL2_uc010zhd.1_Silent_p.V833V|SGOL2_uc010zhe.1_Silent_p.V833V	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	833					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ACAAAGGTGTACATGACCTAG	0.308													G	201437568	A	G	201437568	2	3	4	1	0	0	0	0	0	0	0	1	14217	378	14	3		3	SGOL2	2	201437568	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	67984	201437568	41761805	662	2727											
CLK1	1195	broad.mit.edu	37	chr2	201721521	201721521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatctggatttattaaggtgCgttcatcacgtttctgaaaa	8	6	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:201721521C>T	uc002uwe.2	-	8	1122	c.941G>A	c.(940-942)cGc>cAc	p.R314H	CLK1_uc010zhi.1_Missense_Mutation_p.R356H|CLK1_uc002uwf.2_Missense_Mutation_p.R88H|CLK1_uc002uwg.2_Missense_Mutation_p.R163H	NM_004071	NP_004062	P49759	CLK1_HUMAN	Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 1, mRNA.	314	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	p.E313K(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TATTAAGGTGCGTTCATCACG	0.323													T	201721521	C	T	201721521	3	4	4	1	0	0	0	0	1	0	0	0	3536	768	27	1	533	1	CLK1	2	201721521	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	283953	201721521	41477852	663	2728											
FAM117B	150864	broad.mit.edu	37	chr2	203622048	203622048	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagacaggggaagcaacaAcagcagccgttcccagtccg	13	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:203622048A>G	uc010zhx.2	+	5	1227	c.1217A>G	c.(1216-1218)aAc>aGc	p.N406S		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	406										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GGAAGCAACAACAGCAGCCGT	0.577													G	203622048	A	G	203622048	3	3	4	1	0	0	0	0	1	0	0	0	5410	43	2	3	1239	3	FAM117B	2	203622048	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1900527	203622048	39577325	664	2729											
RAPH1	65059	broad.mit.edu	37	chr2	204354353	204354353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaatccagctcttgagggCgtgttactttatcaatatcc	7	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:204354353C>T	uc002vad.3	-	3	911	c.686G>A	c.(685-687)cGc>cAc	p.R229H	RAPH1_uc002vae.3_Missense_Mutation_p.R229H|RAPH1_uc002vaf.3_Missense_Mutation_p.R229H	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	229					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTCTTGAGGGCGTGTTACTTT	0.403													T	204354353	C	T	204354353	3	4	4	1	0	0	0	0	1	0	0	0	13050	768	27	1	3281	1	RAPH1	2	204354353	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	732305	204354353	38845020	665	2730											
PARD3B	117583	broad.mit.edu	37	chr2	205986630	205986630	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgcctctcatgggatttggCagcaataaaaatgcaaagaa	9	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:205986630C>A	uc002var.2	+	7	1329	c.1122C>A	c.(1120-1122)ggC>ggA	p.G374G	PARD3B_uc010fub.2_Silent_p.G374G|PARD3B_uc002vao.2_Silent_p.G374G|PARD3B_uc002vap.2_Silent_p.G374G|PARD3B_uc002vaq.2_Silent_p.G374G	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	374					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TGGGATTTGGCAGCAATAAAA	0.388													A	205986630	C	A	205986630	2	1	4	1	0	0	0	0	0	0	0	1	11444	697	25	5		5	PARD3B	2	205986630	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1632277	205986630	37212743	666	2731											
NRP2	8828	broad.mit.edu	37	chr2	206608199	206608199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaagccagagcatttgtgCgcaagttcaaagtctcctac	10	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:206608199C>T	uc002vaw.3	+	8	2355	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	NRP2_uc002vat.3_Missense_Mutation_p.R522C|NRP2_uc002vau.3_Missense_Mutation_p.R522C|NRP2_uc002vav.3_Missense_Mutation_p.R522C|NRP2_uc002vax.3_Missense_Mutation_p.R522C|NRP2_uc002vay.3_Missense_Mutation_p.R522C|NRP2_uc010fud.3_Missense_Mutation_p.R522C	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	522	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						AGCATTTGTGCGCAAGTTCAA	0.542													T	206608199	C	T	206608199	3	4	4	1	0	0	0	0	1	0	0	0	10661	768	27	1	1598	1	NRP2	2	206608199	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	621569	206608199	36591174	667	2732											
EEF1B2	1933	broad.mit.edu	37	chr2	207026140	207026140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacactacaggaagtggaGctacagatagtaaagatgat	11	5	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:207026140G>A	uc002vbg.1	+	3	386	c.274G>A	c.(274-276)Gct>Act	p.A92T	NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Missense_Mutation_p.A92T|EEF1B2_uc002vbh.1_Missense_Mutation_p.A92T|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	92						cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGGAAGTGGAGCTACAGATAG	0.443													A	207026140	G	A	207026140	3	1	4	1	0	0	0	0	1	0	0	0	4925	971	34	2	284	2	EEF1B2	2	207026140	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	417941	207026140	36173233	668	2733											
ZDBF2	57683	broad.mit.edu	37	chr2	207170556	207170556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacctttccaaggaagtacGtactgatgtacagtataaga	8	7	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:207170556G>A	uc002vbp.2	+	4	1554	c.1304G>A	c.(1303-1305)cGt>cAt	p.R435H		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	435							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAGGAAGTACGTACTGATGTA	0.343													A	207170556	G	A	207170556	3	1	4	1	0	0	0	0	1	0	0	0	17596	1145	40	1	1314	1	ZDBF2	2	207170556	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	144416	207170556	36028817	669	2734											
ZDBF2	57683	broad.mit.edu	37	chr2	207175899	207175899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacagtcaatttggattcGgaccaaaccaagtgatatca	8	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:207175899G>A	uc002vbp.2	+	4	6897	c.6647G>A	c.(6646-6648)cGg>cAg	p.R2216Q		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2216							nucleic acid binding|zinc ion binding	p.I2215I(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTTGGATTCGGACCAAACCA	0.358													A	207175899	G	A	207175899	3	1	4	1	0	0	0	0	1	0	0	0	17596	1116	39	1	6657	1	ZDBF2	2	207175899	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5343	207175899	36023474	670	2735											
ADAM23	8745	broad.mit.edu	37	chr2	207406814	207406814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccatggaagcatcagaggCgtcaaagactccaaggtggc	12	10	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:207406814C>T	uc002vbq.3	+	4	835	c.612C>T	c.(610-612)ggC>ggT	p.G204G	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	204					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R203G(1)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GCATCAGAGGCGTCAAAGACT	0.423													T	207406814	C	T	207406814	2	4	4	1	0	0	0	0	0	0	0	1	245	755	27	1		1	ADAM23	2	207406814	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	230915	207406814	35792559	671	2736											
MDH1B	130752	broad.mit.edu	37	chr2	207605795	207605795	+	Frame_Shift_Del	DEL	T	T	-													taccatctgacatagctagaTttttttcttcatcagggacc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:207605794_207605794AT>A	uc002vbs.3	-	9	1498	c.1443_1443AT>T	c.(1441-1443)aatfs	p.N481fs	MDH1B_uc010ziw.2_Non-coding_Transcript|MDH1B_uc002vbt.3_Non-coding_Transcript|MDH1B_uc010fui.3_Frame_Shift_Del_p.N481fs	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	481					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		ACATAGCTAGATTTTTTTCTT	0.333													-	207605795	T	-	207605795	7	5	4	1	0	1	0	1	0	0	0	0	9409	1493	52	0	126	0	MDH1B	2	207605795	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	198981	207605795	35593578	672	2737											
MDH1B	130752	broad.mit.edu	37	chr2	207619807	207619807	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccccagcgccacagcaataAtgttgtgtgcaatgcgtggg	12	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:207619807A>T	uc002vbs.3	-	4	891	c.836T>A	c.(835-837)aTt>aAt	p.I279N	MDH1B_uc010ziw.2_Intron|MDH1B_uc002vbt.3_Intron|MDH1B_uc010fui.3_Missense_Mutation_p.I279N|MDH1B_uc021vvm.1_Missense_Mutation_p.I181N	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	279					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CACAGCAATAATGTTGTGTGC	0.463													T	207619807	A	T	207619807	3	4	4	1	0	0	0	0	1	0	0	0	9409	101	4	5	752	5	MDH1B	2	207619807	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	14012	207619807	35579566	673	2738											
CRYGD	1421	broad.mit.edu	37	chr2	209025726	209025726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagttctggaacacaggcGcagtcatcagtgagctcaga	11	10	4	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:209025726G>A	uc002vcq.4	-	2	344	c.327C>T	c.(325-327)tgC>tgT	p.C109C	CRYGD_uc021vvu.1_Intron	NM_014617	NP_055432	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma A (CRYGA), mRNA.	109	Beta/gamma crystallin 'Greek key' 3.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GAACACAGGCGCAGTCATCAG	0.532													A	209025726	G	A	209025726	2	1	4	1	0	0	0	0	0	0	0	1	3917	1079	38	1		1	CRYGD	2	209025726	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1405919	209025726	34173647	674	2739											
LANCL1	10314	broad.mit.edu	37	chr2	211302452	211302452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtagattaccccaggggCgccatggcaccaatggacaa	11	12	0	1	rs149749262	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:211302452C>T	uc010zjh.2	-	6	910	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	LANCL1_uc002ved.3_Missense_Mutation_p.A279T|LANCL1_uc010fuq.3_Missense_Mutation_p.A279T	NM_001136574	NP_006046	O43813	LANC1_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 1 (bacterial) (LANCL1), transcript variant 2, mRNA.	279						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	G-protein coupled receptor activity|SH3 domain binding|catalytic activity|glutathione binding|low-density lipoprotein particle receptor binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		ACCCCAGGGGCGCCATGGCAC	0.393													T	211302452	C	T	211302452	3	4	4	1	0	0	0	0	1	0	0	0	8620	768	27	1	380	1	LANCL1	2	211302452	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2276726	211302452	31896921	675	2740											
CPS1	1373	broad.mit.edu	37	chr2	211507258	211507258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctagtatccgcacactgCgtcaacttggcaagaagacg	9	12	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:211507258C>T	uc010fur.3	+	25	3110	c.3028C>T	c.(3028-3030)Cgt>Tgt	p.R1010C	CPS1_uc002vee.4_Missense_Mutation_p.R1004C|CPS1_uc010fus.3_Missense_Mutation_p.R553C	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1004					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CCGCACACTGCGTCAACTTGG	0.463													T	211507258	C	T	211507258	3	4	4	1	0	0	0	0	1	0	0	0	3823	768	27	1	3130	1	CPS1	2	211507258	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	204806	211507258	31692115	676	2741											
FN1	2335	broad.mit.edu	37	chr2	216269111	216269111	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacttaattttcagcttaCgtgtggtaaagactccagtg	10	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:216269111C>T	uc002vfa.3	-	20	3519	c.3253_splice	c.e20+1	p.L1085_splice	FN1_uc002vfc.3_Splice_Site_p.L1085_splice|FN1_uc002vfe.3_Splice_Site_p.L1085_splice|FN1_uc002vff.3_Splice_Site_p.L1085_splice|FN1_uc002vfg.3_Splice_Site_p.L1085_splice|FN1_uc002vfh.3_Splice_Site_p.L1085_splice|FN1_uc002vfi.3_Splice_Site_p.L1085_splice|FN1_uc002vfj.3_Splice_Site_p.L1085_splice|FN1_uc002vfb.3_Splice_Site_p.L1085_splice	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	1085					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTCAGCTTACGTGTGGTAAA	0.383													T	216269111	C	T	216269111	5	4	4	1	0	0	0	0	0	0	1	0	5962	550	19	1	4287	1	FN1	2	216269111	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4761853	216269111	26930262	677	2742											
FN1	2335	broad.mit.edu	37	chr2	216298122	216298122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcatggagtctttaggacGctcataagtgtcacccactc	9	11	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:216298122G>A	uc002vfa.3	-	2	606	c.340C>T	c.(340-342)Cgt>Tgt	p.R114C	FN1_uc002vfc.3_Missense_Mutation_p.R114C|FN1_uc002vfe.3_Missense_Mutation_p.R114C|FN1_uc002vff.3_Missense_Mutation_p.R114C|FN1_uc002vfg.3_Missense_Mutation_p.R114C|FN1_uc002vfh.3_Missense_Mutation_p.R114C|FN1_uc002vfi.3_Missense_Mutation_p.R114C|FN1_uc002vfj.3_Missense_Mutation_p.R114C|FN1_uc002vfb.3_Missense_Mutation_p.R114C|FN1_uc002vfl.3_Missense_Mutation_p.R114C	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	114	Fibrin- and heparin-binding 1.|Fibronectin type-I 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTTTAGGACGCTCATAAGTG	0.488													A	216298122	G	A	216298122	3	1	4	1	0	0	0	0	1	0	0	0	5962	1087	38	1	7302	1	FN1	2	216298122	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	29011	216298122	26901251	678	2743											
XRCC5	7520	broad.mit.edu	37	chr2	217024813	217024813	+	Frame_Shift_Del	DEL	A	A	-													atgaagatggacctacagctAaaaaattaaagactgagcaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:217024812_217024812TA>T	uc002vfy.3	+	14	1832	c.1692_1692TA>T	c.(1690-1692)gctfs	p.A564fs	XRCC5_uc002vfz.3_Frame_Shift_Del_p.A450fs	NM_021141	NP_066964	P13010	XRCC5_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA.	564					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GACCTACAGCTAAAAAATTAA	0.408								Non-homologous end-joining					-	217024813	A	-	217024813	7	5	4	1	0	1	0	1	0	0	0	0	17453	363	13	0	1751	0	XRCC5	2	217024813	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	726691	217024813	26174560	679	2744											
TNS1	7145	broad.mit.edu	37	chr2	218682847	218682847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgaggtgacggcccaggCtggggcttccagggctggct	17	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:218682847C>T	uc002vgt.2	-	23	4294	c.3896G>A	c.(3895-3897)aGc>aAc	p.S1299N	TNS1_uc002vgr.2_Missense_Mutation_p.S1286N|TNS1_uc002vgs.2_Missense_Mutation_p.S1278N|TNS1_uc010zjv.1_Missense_Mutation_p.S1278N	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1299						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		ACGGCCCAGGCTGGGGCTTCC	0.667													T	218682847	C	T	218682847	3	4	4	1	0	0	0	0	1	0	0	0	16340	797	28	2	1351	2	TNS1	2	218682847	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1658034	218682847	24516526	680	2745											
TNS1	7145	broad.mit.edu	37	chr2	218751283	218751283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagactcaaagttggggatgCcgtgcatgatcacgtggtgc	14	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:218751283C>T	uc002vgt.2	-	10	976	c.578G>A	c.(577-579)gGc>gAc	p.G193D	TNS1_uc002vgr.2_Missense_Mutation_p.G193D|TNS1_uc002vgs.2_Missense_Mutation_p.G193D|TNS1_uc010zjv.1_Missense_Mutation_p.G193D|TNS1_uc010fvj.1_Missense_Mutation_p.G261D|TNS1_uc010fvk.1_Missense_Mutation_p.G318D|TNS1_uc002vgu.3_Missense_Mutation_p.G224D|TNS1_uc010fvi.1_5'Flank	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	193	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GTTGGGGATGCCGTGCATGAT	0.522											OREG0015188	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	218751283	C	T	218751283	3	4	4	1	0	0	0	0	1	0	0	0	16340	739	26	2	4721	2	TNS1	2	218751283	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	68436	218751283	24448090	681	2746											
ZNF142	7701	broad.mit.edu	37	chr2	219503385	219503385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttgcgaaggtgggtgcGcagcaggaagcgcgtcttga	18	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:219503385G>A	uc002vin.3	-	9	5177	c.4741C>T	c.(4741-4743)Cgc>Tgc	p.R1581C	ZNF142_uc002vil.3_Missense_Mutation_p.R1542C|ZNF142_uc010fvt.3_Missense_Mutation_p.R1418C|ZNF142_uc002vim.3_Missense_Mutation_p.R1418C	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1581					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGTGGGTGCGCAGCAGGAAG	0.617													A	219503385	G	A	219503385	3	1	4	1	0	0	0	0	1	0	0	0	17728	1087	38	1	326	1	ZNF142	2	219503385	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	752102	219503385	23695988	682	2747											
RNF25	64320	broad.mit.edu	37	chr2	219528910	219528910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggggttctggctttaggtCcatgggctccttgaggggcc	16	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:219528910C>T	uc002vit.3	-	9	1238	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N	RNF25_uc010fvw.3_Missense_Mutation_p.D272N	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	Homo sapiens ring finger protein 25 (RNF25), mRNA.	384					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTTTAGGTCCATGGGCTCC	0.652													T	219528910	C	T	219528910	3	4	4	1	0	0	0	0	1	0	0	0	13485	855	30	4	233	4	RNF25	2	219528910	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	25525	219528910	23670463	683	2748											
CCDC108	255101	broad.mit.edu	37	chr2	219892449	219892449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaagtgcaggcgcatggCcatggacttgagtgggggca	18	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:219892449C>T	uc002vjl.1	-	12	2218	c.2134G>A	c.(2134-2136)Gcc>Acc	p.A712T	CCDC108_uc010fwa.1_Missense_Mutation_p.A155T|CCDC108_uc010zkp.1_Missense_Mutation_p.A701T|CCDC108_uc010zkq.1_Missense_Mutation_p.A647T	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	712						integral to membrane	structural molecule activity	p.M711I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGCGCATGGCCATGGACTTG	0.602													T	219892449	C	T	219892449	3	4	4	1	0	0	0	0	1	0	0	0	2743	739	26	2	3735	2	CCDC108	2	219892449	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	363539	219892449	23306924	684	2749											
CCDC108	255101	broad.mit.edu	37	chr2	219895460	219895460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccgaggtgcagcccacaGcaacagagccaaagtacaac	9	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:219895460G>A	uc002vjl.1	-	8	1196	c.1112C>T	c.(1111-1113)gCt>gTt	p.A371V	CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Missense_Mutation_p.A360V|CCDC108_uc010zkq.1_Missense_Mutation_p.A306V	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	371						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCCCACAGCAACAGAGCC	0.627													A	219895460	G	A	219895460	3	1	4	1	0	0	0	0	1	0	0	0	2743	971	34	2	4773	2	CCDC108	2	219895460	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3011	219895460	23303913	685	2750											
IHH	3549	broad.mit.edu	37	chr2	219920499	219920499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacggtctcccggcctcacGgctgacaaggccacacgcgc	11	18	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:219920499G>A	uc002vjo.2	-	2	715	c.666C>T	c.(664-666)gcC>gcT	p.A222A		NM_002181	NP_002172	Q14623	IHH_HUMAN	Homo sapiens Indian hedgehog (IHH), mRNA.	222					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGGCCTCACGGCTGACAAGG	0.672													A	219920499	G	A	219920499	2	1	4	1	0	0	0	0	0	0	0	1	7607	1103	39	1		1	IHH	2	219920499	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	25039	219920499	23278874	686	2751											
DNAJB2	3300	broad.mit.edu	37	chr2	220145307	220145307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactttctgcaggtatcggCgcaaggctctccagtggcac	11	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:220145307C>T	uc002vkx.1	+	2	310	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	DNAJB2_uc010zla.1_Missense_Mutation_p.R25C|DNAJB2_uc002vkw.1_Missense_Mutation_p.R25C|DNAJB2_uc010zlb.1_5'Flank	NM_006736	NP_006727	P25686	DNJB2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 2 (DNAJB2), transcript variant 2, mRNA.	25	J.				ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	Hsp70 protein binding|heat shock protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding	p.R25H(1)|p.R24W(1)		endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGTATCGGCGCAAGGCTCT	0.517													T	220145307	C	T	220145307	3	4	4	1	0	0	0	0	1	0	0	0	4620	768	27	1	79	1	DNAJB2	2	220145307	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	224808	220145307	23054066	687	2752											
OBSL1	23363	broad.mit.edu	37	chr2	220432875	220432875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtggatgatgaggcgcCggacagtgccctcttcgatc	14	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:220432875C>T	uc010fwk.3	-	1	1498	c.1184G>A	c.(1183-1185)cGg>cAg	p.R395Q	OBSL1_uc010fwl.2_Missense_Mutation_p.R395Q|OBSL1_uc002vmi.3_Missense_Mutation_p.R395Q	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	395	Ig-like 4.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GATGAGGCGCCGGACAGTGCC	0.622											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	220432875	C	T	220432875	3	4	4	1	0	0	0	0	1	0	0	0	10813	652	23	1	4738	1	OBSL1	2	220432875	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	287568	220432875	22766498	688	2753											
INHA	3623	broad.mit.edu	37	chr2	220439701	220439702	+	Frame_Shift_Ins	INS	-	-	CT													ctgcacctggccacctctgcINStctctctctgctgacccacc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:220439700_220439701G>GCT	uc002vmk.2	+	1	696_697	c.553_554G>GCT	c.(553-555)gctfs	p.A185fs		NM_002191	NP_002182	P05111	INHA_HUMAN	Homo sapiens inhibin, alpha (INHA), mRNA.	185					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCCACCTCTGCTCTCTCTCTG	0.688													CT	220439702	-	CT	220439701	7	5	4	1	0	1	1	0	0	0	0	0	7740	797	28	0	560	0	INHA	2	220439701	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	6826	220439701	22759672	689	2754											
EPHA4	2043	broad.mit.edu	37	chr2	222301233	222301233	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccgtgcggccagatcacgAtgcacatagctcatatcaga	9	12	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:222301233A>G	uc002vmq.3	-	12	2274	c.2232T>C	c.(2230-2232)caT>caC	p.H744H	EPHA4_uc002vmr.2_Silent_p.H744H|EPHA4_uc010zlm.1_Silent_p.H685H	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	744	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CCAGATCACGATGCACATAGC	0.488													G	222301233	A	G	222301233	2	3	4	1	0	0	0	0	0	0	0	1	5169	330	12	3		3	EPHA4	2	222301233	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1861532	222301233	20898140	690	2755											
PAX3	5077	broad.mit.edu	37	chr2	223086020	223086020	+	Frame_Shift_Del	DEL	C	C	-													ggcatggcagtgggagggaaCcccccgggaatgagatggtt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:223086019_223086019AC>A	uc010fwo.3	-	5	1261	c.880_880GT>T	c.(880-882)ttcfs	p.F294fs	PAX3_uc002vmt.2_Frame_Shift_Del_p.F294fs|PAX3_uc002vmy.2_Frame_Shift_Del_p.F293fs|PAX3_uc002vmv.2_Frame_Shift_Del_p.F294fs|PAX3_uc002vmw.2_Frame_Shift_Del_p.F294fs|PAX3_uc002vmx.2_Frame_Shift_Del_p.F294fs	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	294					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGGAGGGAACCCCCCGGGA	0.542			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						-	223086020	C	-	223086020	7	5	4	1	0	1	0	1	0	0	0	0	11480	494	18	0	686	0	PAX3	2	223086020	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	784787	223086020	20113353	691	2756											
ACSL3	2181	broad.mit.edu	37	chr2	223795440	223795440	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaaatgaagcaaaaacaaaaGctgatttctttgaagatgaa	7	4	1	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:223795440G>C	uc002vni.3	+	13	2093	c.1642G>C	c.(1642-1644)Gct>Cct	p.A548P	ACSL3_uc002vnj.3_Missense_Mutation_p.A548P	NM_004457	NP_976251	O95573	ACSL3_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	548					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	AAAAACAAAAGCTGATTTCTT	0.403			T	ETV1	prostate								C	223795440	G	C	223795440	3	2	4	1	0	0	0	0	1	0	0	0	178	971	34	5	1684	5	ACSL3	2	223795440	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	709420	223795440	19403933	692	2757											
SCG2	7857	broad.mit.edu	37	chr2	224463687	224463687	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatccagtcttcttcactcAgtgaatccctctcgggcaag	7	14	6	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:224463687A>G	uc021vxk.1	-	0	314	c.314T>C	c.(313-315)cTg>cCg	p.L105P	SCG2_uc002vnm.3_Missense_Mutation_p.L105P	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	105					MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTCTTCACTCAGTGAATCCCT	0.453													G	224463687	A	G	224463687	3	3	4	1	0	0	0	0	1	0	0	0	13891	188	7	3	1543	3	SCG2	2	224463687	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	668247	224463687	18735686	693	2758											
WDFY1	57590	broad.mit.edu	37	chr2	224758990	224758990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttccacactgcaattccGccgtccgaggaacaggagac	10	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:224758990G>A	uc002vnq.3	-	7	843	c.792C>T	c.(790-792)ggC>ggT	p.G264G		NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN	Homo sapiens WD repeat and FYVE domain containing 1 (WDFY1), mRNA.	264						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CTGCAATTCCGCCGTCCGAGG	0.557													A	224758990	G	A	224758990	2	1	4	1	0	0	0	0	0	0	0	1	17265	1074	38	1		1	WDFY1	2	224758990	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	295303	224758990	18440383	694	2759											
IRS1	3667	broad.mit.edu	37	chr2	227660941	227660941	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctttcgaggcagatggggCtgcagaacctgatggtgggg	17	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:227660941C>T	uc021vxn.1	-	0	2514	c.2514G>A	c.(2512-2514)caG>caA	p.Q838Q	IRS1_uc002voh.4_Silent_p.Q838Q	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	838					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCAGATGGGGCTGCAGAACCT	0.637													T	227660941	C	T	227660941	2	4	4	1	0	0	0	0	0	0	0	1	7840	796	28	2		2	IRS1	2	227660941	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2901951	227660941	15538432	695	2760											
IRS1	3667	broad.mit.edu	37	chr2	227662528	227662528	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctggccggggaggtggcGgtgatgctctcagtgcgtga	19	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:227662528G>A	uc021vxn.1	-	0	927	c.927C>T	c.(925-927)acC>acT	p.T309T	IRS1_uc002voh.4_Silent_p.T309T	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	309	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGAGGTGGCGGTGATGCTCT	0.701											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	227662528	G	A	227662528	2	1	4	1	0	0	0	0	0	0	0	1	7840	1103	39	1		1	IRS1	2	227662528	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1587	227662528	15536845	696	2761											
COL4A4	1286	broad.mit.edu	37	chr2	227872065	227872065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatacttcacgcagacctgGcaccggctgattttctggcg	10	13	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:227872065G>A	uc021vxr.1	-	46	5150	c.5049C>T	c.(5047-5049)tgC>tgT	p.C1683C	COL4A4_uc021vxs.1_Silent_p.C1680C	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1683	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CGCAGACCTGGCACCGGCTGA	0.507													A	227872065	G	A	227872065	2	1	4	1	0	0	0	0	0	0	0	1	3693	1195	42	2		2	COL4A4	2	227872065	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	209537	227872065	15327308	697	2762											
SLC19A3	80704	broad.mit.edu	37	chr2	228564079	228564079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagtaggccacctcggcggCggtgaccatcccatagaaga	13	12	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:228564079C>T	uc002vpi.3	-	2	441	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	SLC19A3_uc002vpj.3_Non-coding_Transcript|SLC19A3_uc010zlv.1_Missense_Mutation_p.A114T	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	Homo sapiens solute carrier family 19, member 3 (SLC19A3), mRNA.	118					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	p.T117T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	ACCTCGGCGGCGGTGACCATC	0.562													T	228564079	C	T	228564079	3	4	4	1	0	0	0	0	1	0	0	0	14430	768	27	1	1154	1	SLC19A3	2	228564079	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	692014	228564079	14635294	698	2763											
SPHKAP	80309	broad.mit.edu	37	chr2	228882781	228882781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgtctgctaattcttccGcaaagtctgtaatgcagtag	9	10	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:228882781G>A	uc002vpq.2	-	6	2836	c.2789C>T	c.(2788-2790)gCg>gTg	p.A930V	SPHKAP_uc002vpp.2_Missense_Mutation_p.A930V|SPHKAP_uc010zlx.1_Missense_Mutation_p.A930V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	930	PKA-RII subunit binding domain (By similarity).					cytoplasm	protein binding	p.A930V(3)|p.A930T(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TAATTCTTCCGCAAAGTCTGT	0.473													A	228882781	G	A	228882781	3	1	4	1	0	0	0	0	1	0	0	0	15047	1087	38	1	2337	1	SPHKAP	2	228882781	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	318702	228882781	14316592	699	2764											
SPHKAP	80309	broad.mit.edu	37	chr2	228883827	228883827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccacttggagccactgaGcatgtcacctcttctctttc	6	15	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:228883827G>A	uc002vpq.2	-	6	1790	c.1743C>T	c.(1741-1743)tgC>tgT	p.C581C	SPHKAP_uc002vpp.2_Silent_p.C581C|SPHKAP_uc010zlx.1_Silent_p.C581C	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	581						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGCCACTGAGCATGTCACCT	0.557													A	228883827	G	A	228883827	2	1	4	1	0	0	0	0	0	0	0	1	15047	963	34	2		2	SPHKAP	2	228883827	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1046	228883827	14315546	700	2765											
DNER	92737	broad.mit.edu	37	chr2	230223321	230223321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggactgtaatcttcataggCgatggggctcacatcataca	10	9	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:230223321C>T	uc002vpv.3	-	12	2296	c.2149G>A	c.(2149-2151)Gcc>Acc	p.A717T		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	717					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCTTCATAGGCGATGGGGCTC	0.358													T	230223321	C	T	230223321	3	4	4	1	0	0	0	0	1	0	0	0	4667	768	27	1	68	1	DNER	2	230223321	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1339494	230223321	12976052	701	2766											
TRIP12	9320	broad.mit.edu	37	chr2	230643195	230643195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattaattttcctaagaagCgaaacttcatcttaaccttt	3	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:230643195C>T	uc002vpx.1	-	35	5346	c.5237G>A	c.(5236-5238)cGc>cAc	p.R1746H	TRIP12_uc021vxw.1_Missense_Mutation_p.R1731H|TRIP12_uc002vpy.1_Missense_Mutation_p.R1428H|TRIP12_uc002vpw.1_Missense_Mutation_p.R1698H	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1698					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TCCTAAGAAGCGAAACTTCAT	0.423													T	230643195	C	T	230643195	3	4	4	1	0	0	0	0	1	0	0	0	16553	768	27	1	913	1	TRIP12	2	230643195	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	419874	230643195	12556178	702	2767											
TRIP12	9320	broad.mit.edu	37	chr2	230672494	230672494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcacgccactgccatatcGcaccatctgtgttctgtgca	7	15	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:230672494G>A	uc002vpx.1	-	16	2535	c.2426C>T	c.(2425-2427)gCg>gTg	p.A809V	TRIP12_uc021vxw.1_Missense_Mutation_p.A767V|TRIP12_uc002vpy.1_Missense_Mutation_p.A464V|TRIP12_uc002vpw.1_Missense_Mutation_p.A761V|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.A767V	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	761	WWE.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTGCCATATCGCACCATCTGT	0.433													A	230672494	G	A	230672494	3	1	4	1	0	0	0	0	1	0	0	0	16553	1087	38	1	3800	1	TRIP12	2	230672494	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	29299	230672494	12526879	703	2768											
SLC16A14	151473	broad.mit.edu	37	chr2	230910799	230910799	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagggaaaacgtcgttttgcTccgataagttatacaaattg	10	6	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:230910799T>C	uc002vqd.2	-	3	1502	c.1043A>G	c.(1042-1044)gAg>gGg	p.E348G	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.E348G|SLC16A14_uc002vqf.3_Missense_Mutation_p.E348G	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	348						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GTCGTTTTGCTCCGATAAGTT	0.418													C	230910799	T	C	230910799	3	2	4	1	0	0	0	0	1	0	0	0	14407	1551	54	3	497	3	SLC16A14	2	230910799	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	238305	230910799	12288574	704	2769											
SP110	3431	broad.mit.edu	37	chr2	231033861	231033861	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggaagagtccagaaaccGccgtcattggcttcatgaaa	10	10	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:231033861G>A	uc002vqg.3	-	18	2361	c.2121C>T	c.(2119-2121)ggC>ggT	p.G707G	SP110_uc002vqh.3_Silent_p.G683G	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	683					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	p.G707S(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TCCAGAAACCGCCGTCATTGG	0.488													A	231033861	G	A	231033861	2	1	4	1	0	0	0	0	0	0	0	1	14961	1074	38	1		1	SP110	2	231033861	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	123062	231033861	12165512	705	2770											
SP110	3431	broad.mit.edu	37	chr2	231037655	231037655	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccttgacagcacacctcGcattcatccgagtttttccg	6	17	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:231037655G>A	uc002vqg.3	-	14	1851	c.1611C>T	c.(1609-1611)tgC>tgT	p.C537C	SP110_uc002vqh.3_Silent_p.C537C	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	537					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	p.C537C(2)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		AGCACACCTCGCATTCATCCG	0.562													A	231037655	G	A	231037655	2	1	4	1	0	0	0	0	0	0	0	1	14961	1079	38	1		1	SP110	2	231037655	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3794	231037655	12161718	706	2771											
ITM2C	81618	broad.mit.edu	37	chr2	231740379	231740379	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtgtgctgtatgaggaCtccctgtcctcccaggtccg	13	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:231740379C>T	uc002vqz.3	+	2	426	c.306C>T	c.(304-306)gaC>gaT	p.D102D	ITM2C_uc002vra.3_Silent_p.D55D|ITM2C_uc002vrb.3_Silent_p.D102D|ITM2C_uc002vrc.3_5'UTR|ITM2C_uc002vrd.3_5'UTR	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	Homo sapiens integral membrane protein 2C (ITM2C), transcript variant 1, mRNA.	102					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TGTATGAGGACTCCCTGTCCT	0.567													T	231740379	C	T	231740379	2	4	4	1	0	0	0	0	0	0	0	1	7914	564	20	4		4	ITM2C	2	231740379	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	702724	231740379	11458994	707	2772											
HTR2B	3357	broad.mit.edu	37	chr2	231973745	231973745	+	Frame_Shift_Del	DEL	T	T	-													tggaaatggtctgcactgacTttttcccaattgtggatgtt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:231973744_231973744CT>C	uc002vro.3	-	3	1438	c.933_933AG>G	c.(931-933)aagfs	p.K311fs	PSMD1_uc002vrn.2_Intron|PSMD1_uc002vrm.2_Intron|PSMD1_uc010fxu.2_Intron|HTR2B_uc010fxv.3_Frame_Shift_Del_p.K244fs	NM_000867	NP_000858	P41595	5HT2B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2B (HTR2B), mRNA.	311					ERK1 and ERK2 cascade|G-protein coupled receptor internalization|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cGMP biosynthetic process|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|embryonic morphogenesis|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	G-protein alpha-subunit binding|Ras GTPase activator activity|calcium channel activity|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	TCTGCACTGACTTTTTCCCAA	0.443													-	231973745	T	-	231973745	7	5	4	1	0	1	0	1	0	0	0	0	7442	1609	56	0	517	0	HTR2B	2	231973745	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	233366	231973745	11225628	708	2773											
NCL	4691	broad.mit.edu	37	chr2	232324987	232324987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaacaaagagattgaaagCcgtagtcggttctgtgcctg	11	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:232324987C>T	uc002vru.3	-	5	1057	c.916G>A	c.(916-918)Gct>Act	p.A306T		NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	306					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		AGATTGAAAGCCGTAGTCGGT	0.363													T	232324987	C	T	232324987	3	4	4	1	0	0	0	0	1	0	0	0	10226	739	26	2	1252	2	NCL	2	232324987	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	351242	232324987	10874386	709	2774											
NCL	4691	broad.mit.edu	37	chr2	232325210	232325210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccactttctgtttcttggCttcaggagctgctttctgtt	8	10	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:232325210C>T	uc002vru.3	-	4	1018	c.877G>A	c.(877-879)Gcc>Acc	p.A293T	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	293					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TGTTTCTTGGCTTCAGGAGCT	0.418													T	232325210	C	T	232325210	3	4	4	1	0	0	0	0	1	0	0	0	10226	797	28	2	1295	2	NCL	2	232325210	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	223	232325210	10874163	710	2775											
NCL	4691	broad.mit.edu	37	chr2	232327993	232327993	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctacctcctttggaggaggaGccattttcttggggtcacct	11	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:232327993G>T	uc002vru.3	-	1	194	c.53C>A	c.(52-54)gCt>gAt	p.A18D	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	18					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TGGAGGAGGAGCCATTTTCTT	0.403													T	232327993	G	T	232327993	3	4	4	1	0	0	0	0	1	0	0	0	10226	971	34	5	2131	5	NCL	2	232327993	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2783	232327993	10871380	711	2776											
NMUR1	10316	broad.mit.edu	37	chr2	232393472	232393472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgcgcatggccttgtggCgcaggatgaccagacaggtc	16	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:232393472C>T	uc002vry.4	-	1	370	c.260G>A	c.(259-261)cGc>cAc	p.R87H		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.	87					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	p.L86M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGCCTTGTGGCGCAGGATGAC	0.622													T	232393472	C	T	232393472	3	4	4	1	0	0	0	0	1	0	0	0	10506	768	27	1	1028	1	NMUR1	2	232393472	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	65479	232393472	10805901	712	2777											
DIS3L2	129563	broad.mit.edu	37	chr2	233128133	233128133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcgctttgtggacggcGcacttcgtttggatcaggtc	14	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:233128133G>A	uc010fxz.3	+	12	1918	c.1642G>A	c.(1642-1644)Gca>Aca	p.A548T	DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.	548							RNA binding|exonuclease activity|ribonuclease activity	p.A548T(2)|p.G547G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TGTGGACGGCGCACTTCGTTT	0.547													A	233128133	G	A	233128133	3	1	4	1	0	0	0	0	1	0	0	0	4537	1087	38	1	1688	1	DIS3L2	2	233128133	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	734661	233128133	10071240	713	2778											
ALPP	250	broad.mit.edu	37	chr2	233245418	233245418	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggagatgacagaggctgcCctgcgcctgctgagcaggaa	15	10	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:233245418C>T	uc002vsq.3	+	7	1116	c.951C>T	c.(949-951)gcC>gcT	p.A317A		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	317						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CAGAGGCTGCCCTGCGCCTGC	0.642													T	233245418	C	T	233245418	2	4	4	1	0	0	0	0	0	0	0	1	548	610	22	4		4	ALPP	2	233245418	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	117285	233245418	9953955	714	2779											
ALPPL2	251	broad.mit.edu	37	chr2	233272672	233272672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacgtgcctgcctcggcccGccaggaggggtgccaggaca	16	15	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:233272672G>A	uc002vss.4	+	4	646	c.593G>A	c.(592-594)cGc>cAc	p.R198H		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	198					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GCCTCGGCCCGCCAGGAGGGG	0.672													A	233272672	G	A	233272672	3	1	4	1	0	0	0	0	1	0	0	0	549	1087	38	1	611	1	ALPPL2	2	233272672	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	27254	233272672	9926701	715	2780											
ALPPL2	251	broad.mit.edu	37	chr2	233274433	233274433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcgcacgtcatggccttcGccgcctgcctggagccctac	11	17	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:233274433G>A	uc002vss.4	+	10	1503	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	484					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CATGGCCTTCGCCGCCTGCCT	0.751													A	233274433	G	A	233274433	3	1	4	1	0	0	0	0	1	0	0	0	549	1087	38	1	1492	1	ALPPL2	2	233274433	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1761	233274433	9924940	716	2781											
EIF4E2	9470	broad.mit.edu	37	chr2	233431863	233431863	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatccgggacacacttcggCgagtgcttaacctacctccc	9	15	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:233431863C>T	uc002vta.3	+	5	682	c.604C>T	c.(604-606)Cga>Tga	p.R202*	EIF4E2_uc002vtb.1_Nonsense_Mutation_p.R202*|EIF4E2_uc010zmi.1_Nonsense_Mutation_p.R157*	NM_004846	NP_004837	O60573	IF4E2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E family member 2 (EIF4E2), mRNA.	202					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CACACTTCGGCGAGTGCTTAA	0.488													T	233431863	C	T	233431863	4	4	4	1	0	0	0	0	0	1	0	0	5030	760	27	1	626	1	EIF4E2	2	233431863	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	157430	233431863	9767510	717	2782											
GIGYF2	26058	broad.mit.edu	37	chr2	233655446	233655446	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcgggaacacatggaaCgacgtcggaggtttgagttt	16	7	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:233655446C>T	uc002vtj.4	+	11	1084	c.817C>T	c.(817-819)Cga>Tga	p.R273*	GIGYF2_uc010zmj.1_Nonsense_Mutation_p.R251*|GIGYF2_uc002vtg.2_Nonsense_Mutation_p.R245*|GIGYF2_uc002vti.4_Nonsense_Mutation_p.R251*|GIGYF2_uc002vtk.4_Nonsense_Mutation_p.R251*|GIGYF2_uc002vth.4_Nonsense_Mutation_p.R245*|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Nonsense_Mutation_p.R82*	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	251					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ACACATGGAACGACGTCGGAG	0.468													T	233655446	C	T	233655446	4	4	4	1	0	0	0	0	0	1	0	0	6378	528	19	1	851	1	GIGYF2	2	233655446	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	223583	233655446	9543927	718	2783											
GIGYF2	26058	broad.mit.edu	37	chr2	233671276	233671276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctttattggtgaagagagCgtgtgatgaaagcttccaac	12	6	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:233671276C>T	uc002vtj.4	+	16	2045	c.1778C>T	c.(1777-1779)gCg>gTg	p.A593V	GIGYF2_uc010zmj.1_Missense_Mutation_p.A572V|GIGYF2_uc002vtg.2_Missense_Mutation_p.A566V|GIGYF2_uc002vti.4_Missense_Mutation_p.A572V|GIGYF2_uc002vtk.4_Missense_Mutation_p.A572V|GIGYF2_uc002vth.4_Missense_Mutation_p.A566V|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Missense_Mutation_p.A403V	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	572					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GTGAAGAGAGCGTGTGATGAA	0.453													T	233671276	C	T	233671276	3	4	4	1	0	0	0	0	1	0	0	0	6378	768	27	1	1835	1	GIGYF2	2	233671276	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	15830	233671276	9528097	719	2784											
INPP5D	3635	broad.mit.edu	37	chr2	234072453	234072453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatcccccatgacatttaCgtgatcggcacccaagagga	8	13	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:234072453C>T	uc010zmo.2	+	10	1407	c.1254C>T	c.(1252-1254)taC>taT	p.Y418Y	INPP5D_uc010zmp.2_Silent_p.Y417Y	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	447					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		ATGACATTTACGTGATCGGCA	0.547													T	234072453	C	T	234072453	2	4	4	1	0	0	0	0	0	0	0	1	7756	547	19	1		1	INPP5D	2	234072453	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	401177	234072453	9126920	720	2785											
INPP5D	3635	broad.mit.edu	37	chr2	234102498	234102498	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggttagaggccacagaaacGcagctgcccatctacacgcc	10	15	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:234102498G>A	uc010zmo.2	+	21	2553	c.2400G>A	c.(2398-2400)acG>acA	p.T800T	INPP5D_uc010zmp.2_Silent_p.T799T	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	829					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCACAGAAACGCAGCTGCCCA	0.592													A	234102498	G	A	234102498	2	1	4	1	0	0	0	0	0	0	0	1	7756	1074	38	1		1	INPP5D	2	234102498	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	30045	234102498	9096875	721	2786											
ATG16L1	55054	broad.mit.edu	37	chr2	234202917	234202917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagctcatccatcaatgCggtggcgtggtcgccctctg	12	12	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:234202917C>T	uc002vty.3	+	17	2002	c.1745C>T	c.(1744-1746)gCg>gTg	p.A582V	ATG16L1_uc021vyl.1_Missense_Mutation_p.A466V|ATG16L1_uc002vub.3_Missense_Mutation_p.A440V|ATG16L1_uc002vtz.3_Missense_Mutation_p.A403V|ATG16L1_uc002vud.4_Missense_Mutation_p.A498V|ATG16L1_uc002vua.3_Missense_Mutation_p.A563V|ATG16L1_uc002vtx.2_Missense_Mutation_p.A419V	NM_030803	NP_001177196	Q676U5	A16L1_HUMAN	Homo sapiens ATG16 autophagy related 16-like 1 (S. cerevisiae) (ATG16L1), transcript variant 1, mRNA.	582					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	p.A582E(2)|p.R241R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		TCCATCAATGCGGTGGCGTGG	0.522													T	234202917	C	T	234202917	3	4	4	1	0	0	0	0	1	0	0	0	1091	768	27	1	1815	1	ATG16L1	2	234202917	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	100419	234202917	8996456	722	2787											
UGT1A1	54658	broad.mit.edu	37	chr2	234526664	234526664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggaaagcacaagtacgaaGtttgttttctctatttctga	8	6	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:234526664G>A	uc002vup.3	+	0	374	c.311G>A	c.(310-312)aGt>aAt	p.S104N	UGT1A1_uc010zmv.1_Missense_Mutation_p.S104N	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	111					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.D103N(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CAAGTACGAAGTTTGTTTTCT	0.373													A	234526664	G	A	234526664	3	1	4	1	0	0	0	0	1	0	0	0	16941	1029	36	4		4	UGT1A1	2	234526664	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	323747	234526664	8672709	723	2788											
UGT1A1	54658	broad.mit.edu	37	chr2	234602262	234602262	+	Frame_Shift_Del	DEL	T	T	-													aagttttcagaccacatgacTttttcccaacgagtggccaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:234602261_234602261CT>C	uc002vuv.4	+	0	750	c.611_611CT>C	c.(610-612)actfs	p.T204fs	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Frame_Shift_Del_p.T204fs	NM_001072	NP_001063	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	205					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GACCACATGACTTTTTCCCAA	0.453													-	234602262	T	-	234602262	7	5	4	1	0	1	0	1	0	0	0	0	16941	1596	56	0		0	UGT1A1	2	234602262	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	75598	234602262	8597111	724	2789											
TRPM8	79054	broad.mit.edu	37	chr2	234851360	234851360	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttggggcatggtctccaacCgggacaccctcatcaggaat	11	13	3	0	rs35201441		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:234851360C>A	uc002vvh.3	+	5	707	c.667C>A	c.(667-669)Cgg>Agg	p.R223R	TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_Silent_p.R173R|TRPM8_uc002vvj.3_Silent_p.R146R	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	223						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GGTCTCCAACCGGGACACCCT	0.557													A	234851360	C	A	234851360	2	1	4	1	0	0	0	0	0	0	0	1	16589	643	23	5		5	TRPM8	2	234851360	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	249098	234851360	8348013	725	2790											
TRPM8	79054	broad.mit.edu	37	chr2	234869622	234869622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctataatgatgccctcctcaCgtttgtctggaaactggttg	9	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:234869622C>T	uc002vvh.3	+	11	1605	c.1565C>T	c.(1564-1566)aCg>aTg	p.T522M	TRPM8_uc010fyj.3_Missense_Mutation_p.T210M	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	522						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GCCCTCCTCACGTTTGTCTGG	0.512													T	234869622	C	T	234869622	3	4	4	1	0	0	0	0	1	0	0	0	16589	536	19	1	1607	1	TRPM8	2	234869622	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	18262	234869622	8329751	726	2791											
SH3BP4	23677	broad.mit.edu	37	chr2	235950141	235950141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccttcttcagaagcaagcGctcctacagtctctcggaac	7	16	3	1	rs144140235		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:235950141G>A	uc002vvp.3	+	3	1121	c.728G>A	c.(727-729)cGc>cAc	p.R243H	SH3BP4_uc010fym.3_Missense_Mutation_p.R243H|SH3BP4_uc002vvq.3_Missense_Mutation_p.R243H	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	243					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AGAAGCAAGCGCTCCTACAGT	0.572													A	235950141	G	A	235950141	3	1	4	1	0	0	0	0	1	0	0	0	14246	1087	38	1	734	1	SH3BP4	2	235950141	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1080519	235950141	7249232	727	2792											
AGAP1	116987	broad.mit.edu	37	chr2	236653360	236653360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttgccatgtgggtggacGctgttatatttgtcttcagc	12	7	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:236653360G>A	uc002vvs.3	+	4	1013	c.415G>A	c.(415-417)Gct>Act	p.A139T	AGAP1_uc002vvt.3_Missense_Mutation_p.A139T|AGAP1_uc021vyp.1_Missense_Mutation_p.A139T	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	139	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GTGGGTGGACGCTGTTATATT	0.502													A	236653360	G	A	236653360	3	1	4	1	0	0	0	0	1	0	0	0	366	1087	38	1	433	1	AGAP1	2	236653360	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	703219	236653360	6546013	728	2793											
NDUFA10	4705	broad.mit.edu	37	chr2	240946781	240946781	+	Frame_Shift_Del	DEL	T	T	-													gaatattgtaaaacctcacaTttttcactgtaagaaaaaac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:240946780_240946780AT>A	uc010fzc.2	-	7	948	c.847_847AT>T	c.(847-849)tgtfs	p.C283fs	NDUFA10_uc002vyn.3_Frame_Shift_Del_p.C253fs	NM_004544	NP_004535	O95299	NDUAA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA.	253					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AAAACCTCACATTTTTCACTG	0.318													-	240946781	T	-	240946781	7	5	4	1	0	1	0	1	0	0	0	0	10260	1490	52	0	327	0	NDUFA10	2	240946781	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	4293421	240946781	2252592	729	2794											
PRR21	643905	broad.mit.edu	37	chr2	240981392	240981392	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacttggatgaagaggcatgGatgaagggccgtgggtgaag	19	4	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:240981392G>A	uc010zod.2	-	0	1008	c.1008C>T	c.(1006-1008)atC>atT	p.I336I		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	Homo sapiens proline rich 21 (PRR21), mRNA.	336										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						AAGAGGCATGGATGAAGGGCC	0.582													A	240981392	G	A	240981392	2	1	4	1	0	0	0	0	0	0	0	1	12592	1164	41	4		4	PRR21	2	240981392	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	34611	240981392	2217981	730	2795											
RNPEPL1	57140	broad.mit.edu	37	chr2	241516387	241516387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctgacctccacagggtgCggcgcttcctggagagccag	13	14	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:241516387C>T	uc002vzi.3	+	9	1864	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	RNPEPL1_uc002vzj.3_Missense_Mutation_p.R39W	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B)-like 1 (RNPEPL1), mRNA.	391					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.R391W(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCACAGGGTGCGGCGCTTCCT	0.647													T	241516387	C	T	241516387	3	4	4	1	0	0	0	0	1	0	0	0	13510	759	27	1	1201	1	RNPEPL1	2	241516387	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	534995	241516387	1682986	731	2796											
CAPN10	11132	broad.mit.edu	37	chr2	241537370	241537370	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagccgctgctgagctgCgtgccacatcgctacgccca	12	16	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:241537370C>T	uc002vzk.2	+	9	2005	c.1809C>T	c.(1807-1809)tgC>tgT	p.C603C	CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Silent_p.C69C|CAPN10_uc002vzl.2_Silent_p.C448C|CAPN10_uc002vzn.2_Silent_p.C475C|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	603	Domain III 2.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TGCTGAGCTGCGTGCCACATC	0.682													T	241537370	C	T	241537370	2	4	4	1	0	0	0	0	0	0	0	1	2623	776	27	1		1	CAPN10	2	241537370	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	20983	241537370	1662003	732	2797											
GPR35	2859	broad.mit.edu	37	chr2	241569890	241569890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacaatttcaactccatggCgttcccgctgctgggattct	9	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:241569890C>T	uc010fzi.2	+	5	1486	c.614C>T	c.(613-615)gCg>gTg	p.A205V	GPR35_uc010fzh.2_Missense_Mutation_p.A205V|GPR35_uc021vze.1_Missense_Mutation_p.A174V|GPR35_uc002vzs.2_Missense_Mutation_p.A174V	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	174						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		AACTCCATGGCGTTCCCGCTG	0.657													T	241569890	C	T	241569890	3	4	4	1	0	0	0	0	1	0	0	0	6690	768	27	1	523	1	GPR35	2	241569890	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	32520	241569890	1629483	733	2798											
KIF1A	547	broad.mit.edu	37	chr2	241683367	241683367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggcgctaacctgagcacGtccttgcagaggggcgggaa	16	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:241683367G>A	uc010fzk.3	-	32	3823	c.3576C>T	c.(3574-3576)gaC>gaT	p.D1192D	KIF1A_uc002vzy.3_Silent_p.D1091D|KIF1A_uc002vzz.2_Silent_p.D1192D	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1091					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		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)		ACCTGAGCACGTCCTTGCAGA	0.587													A	241683367	G	A	241683367	2	1	4	1	0	0	0	0	0	0	0	1	8283	1136	40	1		1	KIF1A	2	241683367	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	113477	241683367	1516006	734	2799											
PASK	23178	broad.mit.edu	37	chr2	242051680	242051680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccatgagaacttccggtgCacagtactcgatggtcccac	9	15	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:242051680C>T	uc002wao.2	-	14	3641	c.3508G>A	c.(3508-3510)Gca>Aca	p.A1170T	PASK_uc010zol.2_Missense_Mutation_p.A984T|PASK_uc010zom.2_Missense_Mutation_p.A1135T|PASK_uc010fzl.2_Missense_Mutation_p.A1177T|PASK_uc010zon.2_Missense_Mutation_p.A951T|PASK_uc021vzf.1_Missense_Mutation_p.A1170T	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	1170	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		ACTTCCGGTGCACAGTACTCG	0.542													T	242051680	C	T	242051680	3	4	4	1	0	0	0	0	1	0	0	0	11472	710	25	2	479	2	PASK	2	242051680	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	368313	242051680	1147693	735	2800											
PASK	23178	broad.mit.edu	37	chr2	242075305	242075305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggcccccctcagctggGtcctggccctgccacgggtc	12	20	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:242075305G>A	uc002wao.2	-	7	1420	c.1287C>T	c.(1285-1287)gaC>gaT	p.D429D	PASK_uc010zol.2_Silent_p.D243D|PASK_uc010zom.2_Silent_p.D394D|PASK_uc010fzl.2_Silent_p.D429D|PASK_uc010zon.2_Silent_p.D210D|PASK_uc021vzf.1_Silent_p.D429D|PASK_uc002wap.3_5'Flank|PASK_uc002waq.3_Silent_p.D429D	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	429					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCTCAGCTGGGTCCTGGCCCT	0.637													A	242075305	G	A	242075305	2	1	4	1	0	0	0	0	0	0	0	1	11472	1252	44	4		4	PASK	2	242075305	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	23625	242075305	1124068	736	2801											
PASK	23178	broad.mit.edu	37	chr2	242077410	242077410	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagggagctgcacagaaggGatcaggtctgtgatatgctg	17	6	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:242077410G>A	uc002wao.2	-	5	967	c.834C>T	c.(832-834)atC>atT	p.I278I	PASK_uc010zol.2_Silent_p.I92I|PASK_uc010zom.2_Intron|PASK_uc010fzl.2_Silent_p.I278I|PASK_uc010zon.2_Silent_p.I59I|PASK_uc021vzf.1_Silent_p.I278I|PASK_uc002waq.3_Silent_p.I278I	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	278					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCACAGAAGGGATCAGGTCTG	0.577													A	242077410	G	A	242077410	2	1	4	1	0	0	0	0	0	0	0	1	11472	1164	41	4		4	PASK	2	242077410	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2105	242077410	1121963	737	2802											
PASK	23178	broad.mit.edu	37	chr2	242078072	242078072	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagttgcacactcacatcGctctggaaagcgacccaggt	9	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:242078072G>A	uc002wao.2	-	4	871	c.738C>T	c.(736-738)agC>agT	p.S246S	PASK_uc010zol.2_Silent_p.S60S|PASK_uc010zom.2_Silent_p.S246S|PASK_uc010fzl.2_Silent_p.S246S|PASK_uc010zon.2_Silent_p.S27S|PASK_uc021vzf.1_Silent_p.S246S|PASK_uc002waq.3_Silent_p.S246S	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	246					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CACTCACATCGCTCTGGAAAG	0.597													A	242078072	G	A	242078072	2	1	4	1	0	0	0	0	0	0	0	1	11472	1078	38	1		1	PASK	2	242078072	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	662	242078072	1121301	738	2803											
HDLBP	3069	broad.mit.edu	37	chr2	242179074	242179074	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccacacagtccttggcGcccttgagggtgactttgtc	11	14	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:242179074G>A	uc002waz.3	-	18	2726	c.2553C>T	c.(2551-2553)ggC>ggT	p.G851G	HDLBP_uc002wba.3_Silent_p.G851G|HDLBP_uc021vzg.1_Silent_p.G818G	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	851	KH 10.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AGTCCTTGGCGCCCTTGAGGG	0.602													A	242179074	G	A	242179074	2	1	4	1	0	0	0	0	0	0	0	1	7025	1074	38	1		1	HDLBP	2	242179074	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	101002	242179074	1020299	739	2804											
SEPT2	4735	broad.mit.edu	37	chr2	242285659	242285659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgagagactcaagagaggCggcaggtcatcacactgtgc	13	10	4	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:242285659C>T	uc002wbh.3	+	13	1413	c.951C>T	c.(949-951)ggC>ggT	p.G317G	SEPT2_uc002wbc.3_Silent_p.G307G|SEPT2_uc002wbd.3_Silent_p.G307G|SEPT2_uc002wbf.3_Silent_p.G307G|SEPT2_uc002wbg.3_Silent_p.G307G|SEPT2_uc010zop.2_Silent_p.G342G	NM_006155	NP_006146	Q15019	SEPT2_HUMAN	Homo sapiens septin 2 (SEPT2), transcript variant 2, mRNA.	307					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TCAAGAGAGGCGGCAGGTCAT	0.502													T	242285659	C	T	242285659	2	4	4	1	0	0	0	0	0	0	0	1	14064	755	27	1		1	SEPT2	2	242285659	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	106585	242285659	913714	740	2805											
FARP2	9855	broad.mit.edu	37	chr2	242375909	242375909	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagaaggcacagcaagAcccacacgtccgttcgagct	10	13	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:242375909A>G	uc002wbi.2	+	11	1278	c.1114A>G	c.(1114-1116)Acc>Gcc	p.T372A	FARP2_uc010zoq.2_Missense_Mutation_p.T372A|FARP2_uc010zor.2_Missense_Mutation_p.T372A	NM_014808	NP_055623	O94887	FARP2_HUMAN	Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.	372					Rac protein signal transduction|axon guidance|neuron remodeling|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GCACAGCAAGACCCACACGTC	0.512													G	242375909	A	G	242375909	3	3	4	1	0	0	0	0	1	0	0	0	5677	275	10	3	1156	3	FARP2	2	242375909	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	90250	242375909	823464	741	2806											
TRNT1	51095	broad.mit.edu	37	chr3	3189779	3189779	+	Frame_Shift_Del	DEL	A	A	-													aacagttgcgagaacagtggAaaaaaagtggttaccaaatg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:3189778_3189778GA>G	uc003bpp.4	+	7	1347	c.1245_1245GA>G	c.(1243-1245)tggfs	p.W415fs	TRNT1_uc010hbv.3_Frame_Shift_Del_p.W395fs|TRNT1_uc003bpm.2_Non-coding_Transcript	NM_182916	NP_886552	Q96Q11	TRNT1_HUMAN	Homo sapiens tRNA nucleotidyl transferase, CCA-adding, 1 (TRNT1), nuclear gene encoding mitochondrial protein, mRNA.	415					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		GAGAACAGTGGAAAAAAAGTG	0.393													-	3189779	A	-	3189779	7	5	4	1	0	1	0	1	0	0	0	0	16570	247	9	0	1272	0	TRNT1	3	3189779	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08		3189779	194832651	742	2807											
LRRN1	57633	broad.mit.edu	37	chr3	3888176	3888176	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgtcacaaccaaaaatgcCgccttcgcagtggacatctc	7	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:3888176C>A	uc003bpt.4	+	1	2612	c.1851C>A	c.(1849-1851)gcC>gcA	p.A617A	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.A617A	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	617						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCAAAAATGCCGCCTTCGCAG	0.473													A	3888176	C	A	3888176	2	1	4	1	0	0	0	0	0	0	0	1	9034	639	23	5		5	LRRN1	3	3888176	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	698397	3888176	194134254	743	2808											
LRRN1	57633	broad.mit.edu	37	chr3	3888320	3888320	+	Frame_Shift_Del	DEL	A	A	-													aaaaactaccaccactcattAaaaaagtatatgcaaaaaac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:3888319_3888319TA>T	uc003bpt.4	+	1	2755	c.1994_1994TA>T	c.(1993-1995)ttafs	p.L665fs	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Frame_Shift_Del_p.L665fs	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	665						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CACCACTCATTAAAAAAGTAT	0.418													-	3888320	A	-	3888320	7	5	4	1	0	1	0	1	0	0	0	0	9034	359	13	0	1997	0	LRRN1	3	3888320	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	144	3888320	194134110	744	2809											
ITPR1	3708	broad.mit.edu	37	chr3	4703860	4703860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggactttgccaatgatgCcagcaaggtgctgggctcca	12	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:4703860C>T	uc003bqc.3	+	13	1651	c.1301C>T	c.(1300-1302)gCc>gTc	p.A434V	ITPR1_uc021wsi.1_Missense_Mutation_p.A449V|ITPR1_uc021wsj.1_Missense_Mutation_p.A434V|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	449	MIR 5.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCCAATGATGCCAGCAAGGTG	0.547													T	4703860	C	T	4703860	3	4	4	1	0	0	0	0	1	0	0	0	7920	739	26	2	1396	2	ITPR1	3	4703860	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	815540	4703860	193318570	745	2810											
ITPR1	3708	broad.mit.edu	37	chr3	4735265	4735265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcggtcagaacgggatcGgatggatgagaacagccctc	15	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:4735265G>A	uc003bqc.3	+	31	4426	c.4076G>A	c.(4075-4077)cGg>cAg	p.R1359Q	ITPR1_uc021wsi.1_Missense_Mutation_p.R1365Q|ITPR1_uc021wsj.1_Missense_Mutation_p.R1350Q|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1374					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GAACGGGATCGGATGGATGAG	0.512													A	4735265	G	A	4735265	3	1	4	1	0	0	0	0	1	0	0	0	7920	1116	39	1	4243	1	ITPR1	3	4735265	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	31405	4735265	193287165	746	2811											
ITPR1	3708	broad.mit.edu	37	chr3	4808340	4808340	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtgaacaccagtgacttgGgaaataaaaagaaagacgat	10	6	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:4808340G>T	uc003bqc.3	+	43	5976	c.5626G>T	c.(5626-5628)Gga>Tga	p.G1876*	ITPR1_uc021wsi.1_Nonsense_Mutation_p.G1843*|ITPR1_uc021wsj.1_Nonsense_Mutation_p.G1828*|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1891					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CAGTGACTTGGGAAATAAAAA	0.428													T	4808340	G	T	4808340	4	4	4	1	0	0	0	0	0	1	0	0	7920	1233	43	5	5841	5	ITPR1	3	4808340	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	73075	4808340	193214090	747	2812											
ITPR1	3708	broad.mit.edu	37	chr3	4825528	4825528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcataacaaagaacttcagaGcatgctgaaacctggtggcc	10	10	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:4825528G>A	uc003bqc.3	+	49	6844	c.6494G>A	c.(6493-6495)aGc>aAc	p.S2165N	ITPR1_uc021wsi.1_Missense_Mutation_p.S2132N|ITPR1_uc021wsj.1_Missense_Mutation_p.S2117N|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2180					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GAACTTCAGAGCATGCTGAAA	0.488													A	4825528	G	A	4825528	3	1	4	1	0	0	0	0	1	0	0	0	7920	971	34	2	6733	2	ITPR1	3	4825528	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	17188	4825528	193196902	748	2813											
GRM7	2917	broad.mit.edu	37	chr3	7188283	7188283	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctaggctggaattatgtgTctaccctcgcatcggaagga	11	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:7188283T>C	uc003bqm.2	+	1	938	c.664T>C	c.(664-666)Tct>Cct	p.S222P	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.S222P|GRM7_uc003bql.2_Missense_Mutation_p.S222P	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	222					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GAATTATGTGTCTACCCTCGC	0.522													C	7188283	T	C	7188283	3	2	4	1	0	0	0	0	1	0	0	0	6802	1667	58	3	670	3	GRM7	3	7188283	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	2362755	7188283	190834147	749	2814											
C3orf32	51066	broad.mit.edu	37	chr3	8667298	8667298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccctggggcagttgagcCggtgctcagacacaaactca	12	13	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:8667298C>T	uc011atg.2	-	9	843	c.803G>A	c.(802-804)cGg>cAg	p.R268Q	C3orf32_uc003bqz.3_Missense_Mutation_p.R246Q|C3orf32_uc003bqt.3_Missense_Mutation_p.R195Q|C3orf32_uc003bqu.3_Missense_Mutation_p.R246Q|C3orf32_uc003bqv.3_Missense_Mutation_p.R195Q|C3orf32_uc003bqx.3_Non-coding_Transcript|C3orf32_uc003bqy.3_Missense_Mutation_p.R246Q	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	Homo sapiens chromosome 3 open reading frame 32 (C3orf32), mRNA.	246										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	14						GCAGTTGAGCCGGTGCTCAGA	0.498													T	8667298	C	T	8667298	3	4	4	1	0	0	0	0	1	0	0	0	2222	652	23	1	336	1	C3orf32	3	8667298	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1479015	8667298	189355132	750	2815											
SETD5	55209	broad.mit.edu	37	chr3	9476021	9476021	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctccccctgtccagacgAtcatccctcgttctgacctg	6	18	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:9476021A>G	uc003brt.3	+	4	616	c.181A>G	c.(181-183)Atc>Gtc	p.I61V	SETD5_uc003brs.1_Missense_Mutation_p.I42V|SETD5_uc003bru.3_5'UTR|SETD5_uc003brv.3_5'UTR	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	61										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TGTCCAGACGATCATCCCTCG	0.517													G	9476021	A	G	9476021	3	3	4	1	0	0	0	0	1	0	0	0	14134	333	12	3	191	3	SETD5	3	9476021	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	808723	9476021	188546409	751	2816											
LHFPL4	375323	broad.mit.edu	37	chr3	9547876	9547876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagatcatgcagcccaggaCgaggcacagagctgaggggc	15	10	1	3	rs148006358		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:9547876C>T	uc003bry.3	-	2	704	c.418G>A	c.(418-420)Gtc>Atc	p.V140I		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	140						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					CAGCCCAGGACGAGGCACAGA	0.617													T	9547876	C	T	9547876	3	4	4	1	0	0	0	0	1	0	0	0	8767	536	19	1	333	1	LHFPL4	3	9547876	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	71855	9547876	188474554	752	2817											
LHFPL4	375323	broad.mit.edu	37	chr3	9594078	9594078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagcagcacgaagaaggCggccgccttgaaggcgctgg	18	10	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:9594078C>T	uc003bry.3	-	1	572	c.286G>A	c.(286-288)Gcc>Acc	p.A96T		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	96						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					ACGAAGAAGGCGGCCGCCTTG	0.632													T	9594078	C	T	9594078	3	4	4	1	0	0	0	0	1	0	0	0	8767	768	27	1	469	1	LHFPL4	3	9594078	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	46202	9594078	188428352	753	2818											
OGG1	4968	broad.mit.edu	37	chr3	9792752	9792752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaagagccaggctagcagGcccacaccagacgagctgga	13	13	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:9792752G>A	uc003bsi.3	+	1	604	c.261G>A	c.(259-261)agG>agA	p.R87R	OGG1_uc003bsj.3_Silent_p.R87R|OGG1_uc003bsh.3_Silent_p.R87R|OGG1_uc003bsl.3_Silent_p.R87R|OGG1_uc003bsk.3_Silent_p.R87R|OGG1_uc003bsm.3_Silent_p.R87R|OGG1_uc003bsn.3_Silent_p.R87R|OGG1_uc003bso.3_Silent_p.R87R|OGG1_uc003bsr.2_5'Flank|OGG1_uc010hcm.2_5'Flank|OGG1_uc003bsq.2_5'Flank|OGG1_uc003bsp.2_5'Flank	NM_002542	NP_002533	O15527	OGG1_HUMAN	Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), nuclear gene encoding mitochondrial protein, transcript variant 1a, mRNA.	87					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding	p.R87K(1)		kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					AGGCTAGCAGGCCCACACCAG	0.572								Base excision repair (BER), DNA glycosylases					A	9792752	G	A	9792752	2	1	4	1	0	0	0	0	0	0	0	1	10845	1194	42	2		2	OGG1	3	9792752	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	198674	9792752	188229678	754	2819											
CIDEC	63924	broad.mit.edu	37	chr3	9920175	9920175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggcgtattccatccttGtcagctggactgcgttggac	11	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:9920175G>A	uc003btp.3	-	1	55	c.35C>T	c.(34-36)aCa>aTa	p.T12I	CIDEC_uc003bto.3_Intron|CIDEC_uc010hcp.3_5'UTR|CIDEC_uc003btq.3_5'UTR|CIDEC_uc003btr.3_5'UTR|CIDEC_uc021wsv.1_5'UTR|CIDEC_uc021wsw.1_5'UTR|CIDEC_uc003bts.3_5'UTR	NM_001199623	NP_001186552	Q96AQ7	CIDEC_HUMAN	Homo sapiens cell death-inducing DFFA-like effector c (CIDEC), transcript variant 1, mRNA.	0					apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					TTCCATCCTTGTCAGCTGGAC	0.522													A	9920175	G	A	9920175	3	1	4	1	0	0	0	0	1	0	0	0	3427	1392	48	4		4	CIDEC	3	9920175	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	127423	9920175	188102255	755	2820											
CRELD1	78987	broad.mit.edu	37	chr3	9982689	9982689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttgaggcagaacgcaacGccagccatctggtatgttcg	11	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:9982689G>A	uc003buf.3	+	5	715	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	CIDEC_uc003bto.3_Intron|CRELD1_uc003buh.3_Missense_Mutation_p.A206T|CRELD1_uc003bug.3_Missense_Mutation_p.A206T	NM_001031717	NP_001026887	Q96HD1	CREL1_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1), transcript variant 1, mRNA.	206					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						AGAACGCAACGCCAGCCATCT	0.642													A	9982689	G	A	9982689	3	1	4	1	0	0	0	0	1	0	0	0	3866	1087	38	1	634	1	CRELD1	3	9982689	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	62514	9982689	188039741	756	2821											
FANCD2	2177	broad.mit.edu	37	chr3	10084330	10084330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattcttcattccgtaacaGccatggatacacttgaggta	7	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:10084330G>A	uc003buw.3	+	10	949	c.871G>A	c.(871-873)Gcc>Acc	p.A291T	FANCD2_uc003bux.1_Missense_Mutation_p.A291T|FANCD2_uc003buy.1_Missense_Mutation_p.A291T	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	291	Interaction with BRCA2.|Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCCGTAACAGCCATGGATAC	0.383			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	10084330	G	A	10084330	3	1	4	1	0	0	0	0	1	0	0	0	5665	971	34	2	909	2	FANCD2	3	10084330	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	101641	10084330	187938100	757	2822											
SLC6A1	6529	broad.mit.edu	37	chr3	11067198	11067198	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgttcttccgtggagtgAcgctgcccggggccaaggag	15	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:11067198A>G	uc010hdq.3	+	7	1189	c.778A>G	c.(778-780)Acg>Gcg	p.T260A		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	260					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CCGTGGAGTGACGCTGCCCGG	0.582													G	11067198	A	G	11067198	3	3	4	1	0	0	0	0	1	0	0	0	14673	275	10	3	800	3	SLC6A1	3	11067198	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	982868	11067198	186955232	758	2823											
ATG7	10533	broad.mit.edu	37	chr3	11372822	11372822	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgttcacagataacaatTggtgtatatgatccctgtaa	7	6	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:11372822T>C	uc003bwc.3	+	7	804	c.687T>C	c.(685-687)atT>atC	p.I229I	ATG7_uc003bwd.3_Silent_p.I229I|ATG7_uc011aum.2_Silent_p.I190I	NM_006395	NP_006386	O95352	ATG7_HUMAN	Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA.	229					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AGATAACAATTGGTGTATATG	0.403													C	11372822	T	C	11372822	2	2	4	1	0	0	0	0	0	0	0	1	1101	1800	63	3		3	ATG7	3	11372822	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	305624	11372822	186649608	759	2824											
VGLL4	9686	broad.mit.edu	37	chr3	11643341	11643341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcgactcattttggagaCgtggtcgttgtcacagtcta	12	8	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:11643341C>T	uc010hdx.1	-	1	644	c.238G>A	c.(238-240)Gtc>Atc	p.V80I	VGLL4_uc003bwf.2_Missense_Mutation_p.V74I|VGLL4_uc003bwg.2_Missense_Mutation_p.V79I|VGLL4_uc011aun.1_Missense_Mutation_p.V15I	NM_001128219	NP_001121691	Q14135	VGLL4_HUMAN	Homo sapiens vestigial like 4 (Drosophila) (VGLL4), transcript variant 1, mRNA.	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		ATTTTGGAGACGTGGTCGTTG	0.547													T	11643341	C	T	11643341	3	4	4	1	0	0	0	0	1	0	0	0	17158	536	19	1	692	1	VGLL4	3	11643341	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	270519	11643341	186379089	760	2825											
TSEN2	80746	broad.mit.edu	37	chr3	12544798	12544798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgggcagcagagctgatgCgtagacaggggcaggatgag	19	6	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:12544798C>T	uc003bxc.3	+	4	733	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	TSEN2_uc003bwz.3_Missense_Mutation_p.R116C|TSEN2_uc003bxa.3_Missense_Mutation_p.R116C|TSEN2_uc011auq.1_Missense_Mutation_p.R116C|TSEN2_uc003bxb.3_Missense_Mutation_p.R116C|TSEN2_uc011aur.1_Missense_Mutation_p.R25C	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	Homo sapiens tRNA splicing endonuclease 2 homolog (S. cerevisiae) (TSEN2), transcript variant 1, mRNA.	116					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						AGAGCTGATGCGTAGACAGGG	0.453													T	12544798	C	T	12544798	3	4	4	1	0	0	0	0	1	0	0	0	16609	768	27	1	360	1	TSEN2	3	12544798	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	901457	12544798	185477632	761	2826											
TSEN2	80746	broad.mit.edu	37	chr3	12570415	12570415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaaaggccctccattttaCcatgcaaggttcggagtgat	11	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:12570415C>T	uc003bxc.3	+	8	1515	c.1128C>T	c.(1126-1128)taC>taT	p.Y376Y	TSEN2_uc003bwz.3_Silent_p.Y317Y|TSEN2_uc003bxa.3_Silent_p.Y350Y|TSEN2_uc011auq.1_Silent_p.Y350Y|TSEN2_uc003bxb.3_Silent_p.Y376Y|TSEN2_uc011aur.1_Silent_p.Y285Y	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	Homo sapiens tRNA splicing endonuclease 2 homolog (S. cerevisiae) (TSEN2), transcript variant 1, mRNA.	376					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						CTCCATTTTACCATGCAAGGT	0.353													T	12570415	C	T	12570415	2	4	4	1	0	0	0	0	0	0	0	1	16609	518	18	4		4	TSEN2	3	12570415	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	25617	12570415	185452015	762	2827											
RAF1	5894	broad.mit.edu	37	chr3	12647737	12647737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagactctcgcatacgacGcatagtcaaagaaggtagtg	10	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:12647737G>A	uc003bxf.4	-	5	1058	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C	RAF1_uc011aut.2_Intron|RAF1_uc011auu.2_Missense_Mutation_p.R133C	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	215					Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.R215C(4)	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	CGCATACGACGCATAGTCAAA	0.418			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				A	12647737	G	A	12647737	3	1	4	1	0	0	0	0	1	0	0	0	13002	1087	38	1	1351	1	RAF1	3	12647737	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	77322	12647737	185374693	763	2828											
NUP210	23225	broad.mit.edu	37	chr3	13381431	13381431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagtgccgttcccgatggCgaggccctgtaccagcccag	12	16	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:13381431C>T	uc003bxv.1	-	24	3477	c.3394G>A	c.(3394-3396)Gcc>Acc	p.A1132T		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1132					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TTCCCGATGGCGAGGCCCTGT	0.617													T	13381431	C	T	13381431	3	4	4	1	0	0	0	0	1	0	0	0	10760	768	27	1	2333	1	NUP210	3	13381431	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	733694	13381431	184640999	764	2829											
NUP210	23225	broad.mit.edu	37	chr3	13415302	13415302	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactgcctgtggtcatcacGcccttgacagtaactgtggc	10	13	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:13415302G>A	uc003bxv.1	-	11	1586	c.1503C>T	c.(1501-1503)ggC>ggT	p.G501G	NUP210_uc003bxx.3_Silent_p.G173G	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	501					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGTCATCACGCCCTTGACAG	0.567													A	13415302	G	A	13415302	2	1	4	1	0	0	0	0	0	0	0	1	10760	1074	38	1		1	NUP210	3	13415302	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	33871	13415302	184607128	765	2830											
HDAC11	79885	broad.mit.edu	37	chr3	13546068	13546068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaccagaagcgcacagcccGcatcattgctgactccatac	8	15	1	2	rs142419489		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:13546068G>A	uc003bxy.3	+	9	1062	c.929G>A	c.(928-930)cGc>cAc	p.R310H	HDAC11_uc010heb.3_3'UTR|HDAC11_uc011aux.2_Missense_Mutation_p.R118H|HDAC11_uc011auy.2_Missense_Mutation_p.R259H	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	Homo sapiens histone deacetylase 11 (HDAC11), transcript variant 1, mRNA.	310	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						CGCACAGCCCGCATCATTGCT	0.612													A	13546068	G	A	13546068	3	1	4	1	0	0	0	0	1	0	0	0	7006	1087	38	1	967	1	HDAC11	3	13546068	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	130766	13546068	184476362	766	2831											
WNT7A	7476	broad.mit.edu	37	chr3	13896046	13896046	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tacctttcggcctgcctcgtTgttgtgcaagttcatgagag	11	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:13896046T>A	uc003bye.1	-	2	858	c.553A>T	c.(553-555)Aac>Tac	p.N185Y		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	185					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CCTGCCTCGTTGTTGTGCAAG	0.592													A	13896046	T	A	13896046	3	1	4	1	0	0	0	0	1	0	0	0	17391	1812	63	5	504	5	WNT7A	3	13896046	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	349978	13896046	184126384	767	2832											
C3orf20	84077	broad.mit.edu	37	chr3	14724291	14724291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccccaagctactggcccGcatctccaaactcctcatga	7	18	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:14724291G>A	uc003byy.3	+	2	523	c.71G>A	c.(70-72)cGc>cAc	p.R24H	C3orf20_uc003byz.3_Intron|C3orf20_uc003bza.3_Intron|C3orf20_uc003byx.2_Missense_Mutation_p.R24H	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	24						cytoplasm|integral to membrane		p.R24H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CTACTGGCCCGCATCTCCAAA	0.463													A	14724291	G	A	14724291	3	1	4	1	0	0	0	0	1	0	0	0	2213	1087	38	1	73	1	C3orf20	3	14724291	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	828245	14724291	183298139	768	2833											
ZFYVE20	64145	broad.mit.edu	37	chr3	15116081	15116081	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgttcacgcaacatctgcagCtgttcccgctgcaggtcctc	9	16	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:15116081C>A	uc003bzm.1	-	13	2177	c.1563G>T	c.(1561-1563)caG>caT	p.Q521H	ZFYVE20_uc010hek.1_Missense_Mutation_p.Q521H	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.	521	Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						ACATCTGCAGCTGTTCCCGCT	0.607													A	15116081	C	A	15116081	3	1	4	1	0	0	0	0	1	0	0	0	17663	796	28	5	795	5	ZFYVE20	3	15116081	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	391790	15116081	182906349	769	2834											
ZFYVE20	64145	broad.mit.edu	37	chr3	15123940	15123940	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctctctcttgagcagCgtgtccttgcagtgtgtaca	11	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:15123940C>T	uc003bzm.1	-	8	1388	c.774G>A	c.(772-774)acG>acA	p.T258T	ZFYVE20_uc010hek.1_Silent_p.T258T|ZFYVE20_uc011avn.1_Intron	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.	258	Necessary for the correct targeting to endosomes.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TCTTGAGCAGCGTGTCCTTGC	0.562													T	15123940	C	T	15123940	2	4	4	1	0	0	0	0	0	0	0	1	17663	755	27	1		1	ZFYVE20	3	15123940	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	7859	15123940	182898490	770	2835											
CAPN7	23473	broad.mit.edu	37	chr3	15269407	15269407	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacattttccaagtgggtaCgaccagaagacctcaccaac	7	13	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:15269407C>T	uc003bzn.3	+	6	1057	c.787C>T	c.(787-789)Cga>Tga	p.R263*		NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	Homo sapiens calpain 7 (CAPN7), mRNA.	263	Calpain catalytic.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						CAAGTGGGTACGACCAGAAGA	0.313													T	15269407	C	T	15269407	4	4	4	1	0	0	0	0	0	1	0	0	2631	528	19	1	813	1	CAPN7	3	15269407	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	145467	15269407	182753023	771	2836											
HACL1	26061	broad.mit.edu	37	chr3	15609981	15609981	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagcacagtccgtccaatgTccatagtatttgctccttca	7	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:15609981T>C	uc003caf.3	-	12	1368	c.1208A>G	c.(1207-1209)gAc>gGc	p.D403G	HACL1_uc011avr.1_Non-coding_Transcript|HACL1_uc010hep.3_Missense_Mutation_p.D162G|HACL1_uc011avs.2_Missense_Mutation_p.D376G|HACL1_uc011avt.2_Missense_Mutation_p.D343G|HACL1_uc003cag.3_Missense_Mutation_p.D47G|HACL1_uc011avu.2_Missense_Mutation_p.D321G	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN	Homo sapiens 2-hydroxyacyl-CoA lyase 1 (HACL1), mRNA.	403	Thiamine pyrophosphate binding.				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CCGTCCAATGTCCATAGTATT	0.368													C	15609981	T	C	15609981	3	2	4	1	0	0	0	0	1	0	0	0	6941	1667	58	3	548	3	HACL1	3	15609981	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	340574	15609981	182412449	772	2837											
RFTN1	23180	broad.mit.edu	37	chr3	16358554	16358554	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggacagggcccttcatctcCtcggagactccaccctcctg	9	17	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:16358554C>A	uc003cay.3	-	9	1800	c.1518G>T	c.(1516-1518)gaG>gaT	p.E506D	RFTN1_uc010hes.3_Missense_Mutation_p.E470D|OXNAD1_uc003cax.3_Intron|OXNAD1_uc011awb.2_Intron	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	506						plasma membrane		p.S505S(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CCTTCATCTCCTCGGAGACTC	0.552													A	16358554	C	A	16358554	3	1	4	1	0	0	0	0	1	0	0	0	13258	680	24	5	222	5	RFTN1	3	16358554	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	748573	16358554	181663876	773	2838											
KCNH8	131096	broad.mit.edu	37	chr3	19190212	19190212	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttcacaccacgctggaaaaAtgccggttatgaaaggatta	9	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:19190212A>T	uc003cbk.1	+	0	196	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	KCNH8_uc011awe.1_Missense_Mutation_p.M1L|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	1						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CGCTGGAAAAATGCCGGTTAT	0.502													T	19190212	A	T	19190212	3	4	4	1	0	0	0	0	1	0	0	0	8038	101	4	5	3	5	KCNH8	3	19190212	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	2831658	19190212	178832218	774	2839											
TOP2B	7155	broad.mit.edu	37	chr3	25668727	25668727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatatctaaacaagatgCgatgcctttccatatcagca	6	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:25668727C>T	uc011awn.1	-	15	2010	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	TOP2B_uc003cdj.2_Missense_Mutation_p.R651H|TOP2B_uc021wug.1_Missense_Mutation_p.R651H	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	656					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	p.R651H(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						AAACAAGATGCGATGCCTTTC	0.353													T	25668727	C	T	25668727	3	4	4	1	0	0	0	0	1	0	0	0	16363	768	27	1	2997	1	TOP2B	3	25668727	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	6478515	25668727	172353703	775	2840											
LRRC3B	116135	broad.mit.edu	37	chr3	26751777	26751777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaaaaactaccgattatgCcatgctggtcaccatgtttg	7	9	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:26751777C>T	uc003cdp.3	+	1	1203	c.614C>T	c.(613-615)gCc>gTc	p.A205V	LRRC3B_uc003cdq.3_Missense_Mutation_p.A205V|LRRC3B_uc021wuj.1_Missense_Mutation_p.A205V	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	205						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						ACCGATTATGCCATGCTGGTC	0.468													T	26751777	C	T	26751777	3	4	4	1	0	0	0	0	1	0	0	0	8996	739	26	2	616	2	LRRC3B	3	26751777	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1083050	26751777	171270653	776	2841											
NEK10	152110	broad.mit.edu	37	chr3	27244008	27244008	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcagcctactgcccagacatCagccttctccccatacggct	7	18	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:27244008C>A	uc010hfk.3	-	2	296	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	NEK10_uc003cds.1_Missense_Mutation_p.D108Y|NEK10_uc010hfj.3_Missense_Mutation_p.D23Y			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	711							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCCCAGACATCAGCCTTCTCC	0.488													A	27244008	C	A	27244008	3	1	4	1	0	0	0	0	1	0	0	0	10322	841	29	5		5	NEK10	3	27244008	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	492231	27244008	170778422	777	2842											
ZCWPW2	152098	broad.mit.edu	37	chr3	28476697	28476697	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcacatagaattcctgggCgatccccattcaagatcatg	7	11	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:28476697C>T	uc003ceh.3	+	3	597	c.429C>T	c.(427-429)ggC>ggT	p.G143G	ZCWPW2_uc003cei.3_Silent_p.G143G|ZCWPW2_uc010hfo.3_5'UTR	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 2 (ZCWPW2), mRNA.	143	PWWP.						zinc ion binding	p.G143G(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AATTCCTGGGCGATCCCCATT	0.378													T	28476697	C	T	28476697	2	4	4	1	0	0	0	0	0	0	0	1	17595	755	27	1		1	ZCWPW2	3	28476697	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1232689	28476697	169545733	778	2843											
OSBPL10	114884	broad.mit.edu	37	chr3	31710298	31710298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtgttggttgggttgtgCttcacttctgcggtaaccct	13	8	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:31710298C>T	uc021wuu.1	-	9	2603	c.1932G>A	c.(1930-1932)aaG>aaA	p.K644K	OSBPL10_uc003ceu.1_Silent_p.K401K|OSBPL10_uc011axf.2_Silent_p.K580K	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	644					lipid transport		lipid binding	p.V643V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TTGGGTTGTGCTTCACTTCTG	0.398													T	31710298	C	T	31710298	2	4	4	1	0	0	0	0	0	0	0	1	11275	796	28	2		2	OSBPL10	3	31710298	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3233601	31710298	166312132	779	2844											
OSBPL10	114884	broad.mit.edu	37	chr3	31725328	31725328	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtgttcgtgacagctggcAggagagcgggaagcagtcct	18	8	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:31725328A>G	uc021wuu.1	-	7	2195	c.1524T>C	c.(1522-1524)ccT>ccC	p.P508P	OSBPL10_uc003ceu.1_Silent_p.P265P|OSBPL10_uc011axf.2_Silent_p.P444P	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	508					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GACAGCTGGCAGGAGAGCGGG	0.547													G	31725328	A	G	31725328	2	3	4	1	0	0	0	0	0	0	0	1	11275	175	7	3		3	OSBPL10	3	31725328	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	15030	31725328	166297102	780	2845											
CMTM8	152189	broad.mit.edu	37	chr3	32409470	32409470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacaacttcaacagctgggCggcctcatcggtgagtagcc	11	13	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:32409470C>T	uc003cex.3	+	2	722	c.428C>T	c.(427-429)gCg>gTg	p.A143V	CMTM8_uc010hfu.3_Missense_Mutation_p.A85V	NM_178868	NP_849199	Q8IZV2	CKLF8_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 8 (CMTM8), mRNA.	143	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						AACAGCTGGGCGGCCTCATCG	0.547													T	32409470	C	T	32409470	3	4	4	1	0	0	0	0	1	0	0	0	3589	768	27	1	438	1	CMTM8	3	32409470	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	684142	32409470	165612960	781	2846											
CRTAP	10491	broad.mit.edu	37	chr3	33174107	33174107	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgctctttgatcagaatgAcaaggtcatgcagcagaacc	9	10	4	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:33174107A>G	uc003cfl.4	+	4	1103	c.983A>G	c.(982-984)gAc>gGc	p.D328G	CRTAP_uc010hfz.3_Missense_Mutation_p.D285G|CRTAP_uc003cfn.3_Missense_Mutation_p.D149G	NM_006371	NP_006362	O75718	CRTAP_HUMAN	Homo sapiens cartilage associated protein (CRTAP), mRNA.	328						proteinaceous extracellular matrix	binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						GATCAGAATGACAAGGTCATG	0.502													G	33174107	A	G	33174107	3	3	4	1	0	0	0	0	1	0	0	0	3898	275	10	3	1001	3	CRTAP	3	33174107	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	764637	33174107	164848323	782	2847											
UBP1	7342	broad.mit.edu	37	chr3	33453092	33453092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaatgaaagcagaggtgCgttttgctgggtcccacaga	13	9	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:33453092C>T	uc003cfq.4	-	4	1066	c.536G>A	c.(535-537)cGc>cAc	p.R179H	UBP1_uc003cfr.4_Missense_Mutation_p.R179H|UBP1_uc010hga.3_Missense_Mutation_p.R179H	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA.	179					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						AGCAGAGGTGCGTTTTGCTGG	0.358													T	33453092	C	T	33453092	3	4	4	1	0	0	0	0	1	0	0	0	16892	768	27	1	1134	1	UBP1	3	33453092	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	278985	33453092	164569338	783	2848											
CLASP2	23122	broad.mit.edu	37	chr3	33592749	33592749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catattaaaatataccttccGaacatcagaacttttgggtt	5	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:33592749G>A	uc021wvc.1	-	29	3383	c.3172C>T	c.(3172-3174)Cgg>Tgg	p.R1058W	CLASP2_uc003cfs.3_Missense_Mutation_p.R257W|CLASP2_uc021wva.1_Missense_Mutation_p.R132W|CLASP2_uc021wvb.1_Missense_Mutation_p.R837W|CLASP2_uc011axt.1_Missense_Mutation_p.R650W	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	1059										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TATACCTTCCGAACATCAGAA	0.388													A	33592749	G	A	33592749	3	1	4	1	0	0	0	0	1	0	0	0	3455	1057	37	1	1412	1	CLASP2	3	33592749	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	139657	33592749	164429681	784	2849											
CLASP2	23122	broad.mit.edu	37	chr3	33617676	33617676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaccaaggcatctgccacCgcctcctccacatcagaacc	6	18	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:33617676C>T	uc021wvc.1	-	23	2653	c.2442G>A	c.(2440-2442)gcG>gcA	p.A814A	CLASP2_uc003cfs.3_Silent_p.A13A|CLASP2_uc021wva.1_5'UTR|CLASP2_uc021wvb.1_Silent_p.A601A|CLASP2_uc011axt.1_Silent_p.A406A	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	814										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CATCTGCCACCGCCTCCTCCA	0.453													T	33617676	C	T	33617676	2	4	4	1	0	0	0	0	0	0	0	1	3455	639	23	1		1	CLASP2	3	33617676	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	24927	33617676	164404754	785	2850											
CLASP2	23122	broad.mit.edu	37	chr3	33729801	33729801	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaataagacacagacacacGccttctcgagatcgaaaatt	6	11	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:33729801G>A	uc021wvc.1	-	3	649	c.438C>T	c.(436-438)ggC>ggT	p.G146G	CLASP2_uc021wvd.1_Silent_p.G146G	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	146										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ACAGACACACGCCTTCTCGAG	0.303													A	33729801	G	A	33729801	2	1	4	1	0	0	0	0	0	0	0	1	3455	1074	38	1		1	CLASP2	3	33729801	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	112125	33729801	164292629	786	2851											
PDCD6IP	10015	broad.mit.edu	37	chr3	33870419	33870419	+	Frame_Shift_Del	DEL	A	A	-													taccatcagtctatcctggcAaaacagcagaagaaatttgg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:33870418_33870418CA>C	uc003cfx.3	+	6	946	c.791_791CA>C	c.(790-792)gcafs	p.A264fs	PDCD6IP_uc003cfy.3_Frame_Shift_Del_p.A269fs|PDCD6IP_uc011axw.2_Frame_Shift_Del_p.A45fs	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	Homo sapiens programmed cell death 6 interacting protein (PDCD6IP), transcript variant 1, mRNA.	264	BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TCTATCCTGGCAAAACAGCAG	0.408													-	33870419	A	-	33870419	7	5	4	1	0	1	0	1	0	0	0	0	11624	117	5	0	833	0	PDCD6IP	3	33870419	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	140618	33870419	164152011	787	2852											
TRANK1	9881	broad.mit.edu	37	chr3	36873314	36873314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcaatctcccggaagtggCgatacaggagaggcttgcag	13	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:36873314C>T	uc003cgj.3	-	20	7876	c.7628G>A	c.(7627-7629)cGc>cAc	p.R2543H		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2543					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCGGAAGTGGCGATACAGGAG	0.592													T	36873314	C	T	36873314	3	4	4	1	0	0	0	0	1	0	0	0	16451	768	27	1	1161	1	TRANK1	3	36873314	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3002895	36873314	161149116	788	2853											
TRANK1	9881	broad.mit.edu	37	chr3	36873381	36873381	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactagcatcaccaagcacaGcaccagtgtccgctcagcct	7	17	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:36873381G>T	uc003cgj.3	-	20	7809	c.7561C>A	c.(7561-7563)Ctg>Atg	p.L2521M		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2521					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACCAAGCACAGCACCAGTGTC	0.527													T	36873381	G	T	36873381	3	4	4	1	0	0	0	0	1	0	0	0	16451	962	34	5	1228	5	TRANK1	3	36873381	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	67	36873381	161149049	789	2854											
TRANK1	9881	broad.mit.edu	37	chr3	36897695	36897695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatacttctgcagcttggCcgtcccctgctggctccaca	8	17	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:36897695C>T	uc003cgj.3	-	11	3634	c.3386G>A	c.(3385-3387)gGc>gAc	p.G1129D		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1129					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGCAGCTTGGCCGTCCCCTGC	0.517													T	36897695	C	T	36897695	3	4	4	1	0	0	0	0	1	0	0	0	16451	739	26	2	5439	2	TRANK1	3	36897695	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	24314	36897695	161124735	790	2855											
LRRFIP2	9209	broad.mit.edu	37	chr3	37095348	37095348	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagggtggttttcctactgCtgggccagaagtgctgtcct	14	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:37095348C>T	uc003cgp.2	-	28	2583	c.2160G>A	c.(2158-2160)caG>caA	p.Q720Q	MLH1_uc011aye.2_Intron|LRRFIP2_uc011ayf.1_Silent_p.Q502Q|LRRFIP2_uc003cgs.3_Silent_p.Q423Q|LRRFIP2_uc003cgt.3_Silent_p.Q399Q	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 2 (LRRFIP2), transcript variant 1, mRNA.	720					Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TTTCCTACTGCTGGGCCAGAA	0.522													T	37095348	C	T	37095348	2	4	4	1	0	0	0	0	0	0	0	1	9028	796	28	2		2	LRRFIP2	3	37095348	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	197653	37095348	160927082	791	2856											
GOLGA4	2803	broad.mit.edu	37	chr3	37367797	37367797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgagttaaaatcaaaggaaGcttatgaaaaggatgagcag	11	3	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:37367797G>A	uc003cgv.3	+	13	4780	c.4420G>A	c.(4420-4422)Gct>Act	p.A1474T	GOLGA4_uc010hgr.2_Missense_Mutation_p.A1035T|GOLGA4_uc003cgw.3_Missense_Mutation_p.A1496T|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.A1355T	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	1474	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATCAAAGGAAGCTTATGAAAA	0.338													A	37367797	G	A	37367797	3	1	4	1	0	0	0	0	1	0	0	0	6555	971	34	2	4544	2	GOLGA4	3	37367797	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	272449	37367797	160654633	792	2857											
GOLGA4	2803	broad.mit.edu	37	chr3	37388776	37388776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttttgagtatatgatgggtCgtgagactaaggtataaatc	11	3	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:37388776C>T	uc003cgv.3	+	20	6925	c.6565C>T	c.(6565-6567)Cgt>Tgt	p.R2189C	GOLGA4_uc003cgw.3_Missense_Mutation_p.R2204C|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.R2070C	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	2189	GRIP.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.G2188G(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TATGATGGGTCGTGAGACTAA	0.368													T	37388776	C	T	37388776	3	4	4	1	0	0	0	0	1	0	0	0	6555	884	31	1	6717	1	GOLGA4	3	37388776	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	20979	37388776	160633654	793	2858											
ITGA9	3680	broad.mit.edu	37	chr3	37559045	37559045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggatggtgcctacaatgcGcactttggagagagcattgc	15	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:37559045G>A	uc003chd.3	+	9	1139	c.1086G>A	c.(1084-1086)gcG>gcA	p.A362A	ITGA9_uc003chc.3_Silent_p.A362A	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	362					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CCTACAATGCGCACTTTGGAG	0.557													A	37559045	G	A	37559045	2	1	4	1	0	0	0	0	0	0	0	1	7883	1074	38	1		1	ITGA9	3	37559045	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	170269	37559045	160463385	794	2859											
PLCD1	5333	broad.mit.edu	37	chr3	38061761	38061761	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcaacttgtagaagcgCtctctcctccatgagctgga	9	13	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:38061761C>T	uc003chm.3	-	1	534	c.180G>A	c.(178-180)gaG>gaA	p.E60E	PLCD1_uc003chn.3_Silent_p.E39E	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN	Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.	39	PH.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	GTPase activating protein binding|calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.R60W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGTAGAAGCGCTCTCTCCTCC	0.597													T	38061761	C	T	38061761	2	4	4	1	0	0	0	0	0	0	0	1	12031	796	28	2		2	PLCD1	3	38061761	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	502716	38061761	159960669	795	2860											
DLEC1	9940	broad.mit.edu	37	chr3	38136483	38136483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccccgacaaggagactgCcttctccatcatgcccagaa	7	16	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:38136483C>T	uc003chp.1	+	12	2054	c.2033C>T	c.(2032-2034)gCc>gTc	p.A678V	DLEC1_uc003cho.1_Missense_Mutation_p.A678V|DLEC1_uc010hgv.1_Missense_Mutation_p.A678V|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_5'Flank|DLEC1_uc003chq.1_Intron	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	678					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AAGGAGACTGCCTTCTCCATC	0.542													T	38136483	C	T	38136483	3	4	4	1	0	0	0	0	1	0	0	0	4552	739	26	2	2083	2	DLEC1	3	38136483	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	74722	38136483	159885947	796	2861											
SLC22A14	9389	broad.mit.edu	37	chr3	38354921	38354921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgactcgggcctctgtcctgGacttctgtaagaataggcag	12	10	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:38354921G>A	uc003cib.2	+	5	1181	c.1108G>A	c.(1108-1110)Gac>Aac	p.D370N	SLC22A14_uc010hhc.1_Missense_Mutation_p.D370N|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	370						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTCTGTCCTGGACTTCTGTAA	0.592													A	38354921	G	A	38354921	3	1	4	1	0	0	0	0	1	0	0	0	14445	1174	41	4	1130	4	SLC22A14	3	38354921	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	218438	38354921	159667509	797	2862											
EXOG	9941	broad.mit.edu	37	chr3	38565787	38565787	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattactttatgagtcgctaTgagaagaagctagaagaact	10	5	0	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:38565787T>C	uc003cih.2	+	5	1137	c.1041T>C	c.(1039-1041)taT>taC	p.Y347Y	EXOG_uc010hhg.3_Non-coding_Transcript|EXOG_uc010hhf.2_Silent_p.Y207Y|EXOG_uc003cii.2_Silent_p.Y207Y|EXOG_uc011ayq.1_Silent_p.Y297Y|EXOG_uc003cij.2_Silent_p.Y207Y|EXOG_uc010hhd.2_Silent_p.Y207Y|EXOG_uc010hhe.2_Silent_p.Y207Y|EXOG_uc003cik.2_Silent_p.Y207Y	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN	Homo sapiens endo/exonuclease (5'-3'), endonuclease G-like (EXOG), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	347						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TGAGTCGCTATGAGAAGAAGC	0.408													C	38565787	T	C	38565787	2	2	4	1	0	0	0	0	0	0	0	1	5312	1471	51	3		3	EXOG	3	38565787	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	210866	38565787	159456643	798	2863											
CSRNP1	64651	broad.mit.edu	37	chr3	39186606	39186606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgacggcaagcactgtggCgaagggccatacccagagta	14	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:39186606C>T	uc003cjg.3	-	2	561	c.347G>A	c.(346-348)cGc>cAc	p.R116H	CSRNP1_uc003cjh.3_Missense_Mutation_p.R116H	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA.	116					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						AGCACTGTGGCGAAGGGCCAT	0.607													T	39186606	C	T	39186606	3	4	4	1	0	0	0	0	1	0	0	0	3963	768	27	1	1434	1	CSRNP1	3	39186606	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	620819	39186606	158835824	799	2864											
SLC25A38	54977	broad.mit.edu	37	chr3	39437962	39437962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactctaatggcagcaatggCgtggacggtgtatgaagaga	14	6	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:39437962C>T	uc003cjo.2	+	6	1267	c.866C>T	c.(865-867)gCg>gTg	p.A289V		NM_017875	NP_060345	Q96DW6	S2538_HUMAN	Homo sapiens solute carrier family 25, member 38 (SLC25A38), nuclear gene encoding mitochondrial protein, mRNA.	289					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCAGCAATGGCGTGGACGGTG	0.527													T	39437962	C	T	39437962	3	4	4	1	0	0	0	0	1	0	0	0	14502	768	27	1	892	1	SLC25A38	3	39437962	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	251356	39437962	158584468	800	2865											
ENTPD3	956	broad.mit.edu	37	chr3	40456333	40456333	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgggaaatttcctggaggTgtgtgcaaacaaatgcatgg	13	5	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:40456333T>C	uc003ckd.4	+	6	689	c.597_splice	c.e6+2	p.E199_splice	ENTPD3_uc010hhy.3_Splice_Site_p.E199_splice|ENTPD3-AS1_uc003cke.4_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.	199						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TTCCTGGAGGTGTGTGCAAAC	0.433													C	40456333	T	C	40456333	5	2	4	1	0	0	0	0	0	0	1	0	5140	1710	59	3	617	3	ENTPD3	3	40456333	Splice_Site	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1018371	40456333	157566097	801	2866											
ZNF620	253639	broad.mit.edu	37	chr3	40557940	40557940	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctatgaatgtaaggagtgCggcaaggccttcagtagcag	13	9	1	1	rs139782096	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:40557940C>T	uc003ckk.3	+	4	1004	c.855C>T	c.(853-855)tgC>tgT	p.C285C	ZNF620_uc003ckl.3_Silent_p.C171C	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN	Homo sapiens zinc finger protein 620 (ZNF620), transcript variant 1, mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GTAAGGAGTGCGGCAAGGCCT	0.443													T	40557940	C	T	40557940	2	4	4	1	0	0	0	0	0	0	0	1	18041	776	27	1		1	ZNF620	3	40557940	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	101607	40557940	157464490	802	2867											
TRAK1	22906	broad.mit.edu	37	chr3	42235319	42235319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttgccatgctttagtgcGcagtggaaaatgaagaactt	10	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:42235319G>A	uc003cky.3	+	8	1120	c.904G>A	c.(904-906)Gca>Aca	p.A302T	TRAK1_uc011azh.2_Missense_Mutation_p.A302T|TRAK1_uc011azi.2_Missense_Mutation_p.A302T|TRAK1_uc003ckz.4_Missense_Mutation_p.A228T|TRAK1_uc011azj.2_Missense_Mutation_p.A228T|TRAK1_uc003cla.3_Missense_Mutation_p.A244T	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	302	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GCTTTAGTGCGCAGTGGAAAA	0.463													A	42235319	G	A	42235319	3	1	4	1	0	0	0	0	1	0	0	0	16446	1087	38	1	1054	1	TRAK1	3	42235319	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1677379	42235319	155787111	803	2868											
TRAK1	22906	broad.mit.edu	37	chr3	42240734	42240734	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttggaagaggccgagtcTccagacatcacgtacggcca	12	12	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:42240734T>C	uc003cky.3	+	10	1395	c.1179T>C	c.(1177-1179)tcT>tcC	p.S393S	TRAK1_uc011azh.2_Silent_p.S393S|TRAK1_uc011azi.2_Silent_p.S393S|TRAK1_uc003ckz.4_Silent_p.S319S|TRAK1_uc011azj.2_Silent_p.S319S|TRAK1_uc003cla.3_Silent_p.S335S	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	393	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						AGGCCGAGTCTCCAGACATCA	0.502													C	42240734	T	C	42240734	2	2	4	1	0	0	0	0	0	0	0	1	16446	1538	54	3		3	TRAK1	3	42240734	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	5415	42240734	155781696	804	2869											
SEC22C	9117	broad.mit.edu	37	chr3	42610466	42610466	+	Frame_Shift_Del	DEL	A	A	-													caaaaaatcttgggtgtggtAaaaatcagtagaggctgaga							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:42610465_42610465TA>T	uc003clj.3	-	1	284	c.74_74TA>A	c.(73-75)tacfs	p.Y25fs	SEC22C_uc003clh.3_Frame_Shift_Del_p.Y25fs|SEC22C_uc010hic.3_Frame_Shift_Del_p.Y25fs|SEC22C_uc011azo.2_5'UTR|SEC22C_uc003cli.3_Frame_Shift_Del_p.Y25fs	NM_032970	NP_116752	Q9BRL7	SC22C_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog C (S. cerevisiae) (SEC22C), transcript variant 1, mRNA.	25	Longin.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TTGGGTGTGGTAAAAATCAGT	0.507													-	42610466	A	-	42610466	7	5	4	1	0	1	0	1	0	0	0	0	13990	362	13	0	908	0	SEC22C	3	42610466	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	369732	42610466	155411964	805	2870											
SNRK	54861	broad.mit.edu	37	chr3	43389129	43389129	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaggacaagaaacccatgTccctctcaacacaagtggtt	9	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:43389129T>C	uc003cms.4	+	6	1710	c.1378T>C	c.(1378-1380)Tcc>Ccc	p.S460P	SNRK_uc003cmt.4_Missense_Mutation_p.S460P|SNRK_uc010hik.3_Missense_Mutation_p.S460P|SNRK_uc011azr.2_Missense_Mutation_p.S254P	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	460					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GAAACCCATGTCCCTCTCAAC	0.547													C	43389129	T	C	43389129	3	2	4	1	0	0	0	0	1	0	0	0	14851	1667	58	3	1396	3	SNRK	3	43389129	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	778663	43389129	154633301	806	2871											
C3orf23	285343	broad.mit.edu	37	chr3	44441970	44441970	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaattacagccagtattgAcacttgaagaatattactct	6	7	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:44441970A>G	uc003cnd.4	+	8	1436	c.1009A>G	c.(1009-1011)Aca>Gca	p.T337A	C3orf23_uc010him.3_Missense_Mutation_p.T337A|C3orf23_uc003cne.4_Missense_Mutation_p.T193A	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	Homo sapiens chromosome 3 open reading frame 23 (C3orf23), transcript variant 1, mRNA.	337						mitochondrion				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		GCCAGTATTGACACTTGAAGA	0.333													G	44441970	A	G	44441970	3	3	4	1	0	0	0	0	1	0	0	0	2216	275	10	3	1091	3	C3orf23	3	44441970	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1052841	44441970	153580460	807	2872											
ZNF660	285349	broad.mit.edu	37	chr3	44635896	44635896	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acctcacagtacatgagcgaAtccacacgggagagaaaccc	9	13	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:44635896A>T	uc003cnl.1	+	2	544	c.211A>T	c.(211-213)Atc>Ttc	p.I71F	ZNF660_uc021wwp.1_Missense_Mutation_p.I71F	NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN	Homo sapiens zinc finger protein 660 (ZNF660), mRNA.	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		ACATGAGCGAATCCACACGGG	0.443													T	44635896	A	T	44635896	3	4	4	1	0	0	0	0	1	0	0	0	18067	101	4	5	213	5	ZNF660	3	44635896	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	193926	44635896	153386534	808	2873											
KIF15	56992	broad.mit.edu	37	chr3	44846554	44846554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctaaagctcagaaagagCcatgtttgtttgcaaacact	7	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:44846554C>T	uc003cnx.4	+	14	1872	c.1723C>T	c.(1723-1725)Cca>Tca	p.P575S	KIF15_uc010hiq.3_Missense_Mutation_p.P478S|KIF15_uc003cny.1_Missense_Mutation_p.P210S	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	575					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	p.E574Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TCAGAAAGAGCCATGTTTGTT	0.348													T	44846554	C	T	44846554	3	4	4	1	0	0	0	0	1	0	0	0	8277	739	26	2	1781	2	KIF15	3	44846554	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	210658	44846554	153175876	809	2874											
EXOSC7	23016	broad.mit.edu	37	chr3	45030680	45030680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgaggactaccgatgtgtcGaagtggaaactgatgtggtg	16	5	0	2	rs146138646		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:45030680G>A	uc003coi.2	+	1	135	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	EXOSC7_uc003coh.1_5'UTR|EXOSC7_uc011bae.2_Missense_Mutation_p.E36K|EXOSC7_uc010his.1_Intron	NM_015004	NP_055819	Q15024	EXOS7_HUMAN	Homo sapiens exosome component 7 (EXOSC7), transcript variant 1, mRNA.	36					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|RNA binding|protein binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		CCGATGTGTCGAAGTGGAAAC	0.527													A	45030680	G	A	45030680	3	1	4	1	0	0	0	0	1	0	0	0	5319	1059	37	1	112	1	EXOSC7	3	45030680	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	184126	45030680	152991750	810	2875											
FYCO1	79443	broad.mit.edu	37	chr3	45965219	45965221	+	In_Frame_Del	DEL	CTC	CTC	-													ttgagctggccctggatgttCtccttgtgggagttgcatcg					rs148020105		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:45965219_45965221delCTC	uc003cpb.3	-	17	4494_4496	c.4288_4290delGAG	c.(4288-4290)GAGdel	p.E1430del	FYCO1_uc011bal.1_In_Frame_Del_p.E1450del	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1430	GOLD.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCTGGATGTTCTCCTTGTGGGAG	0.581													-	45965221	CTC	-	45965219	7	5	4	1	0	1	0	1	0	0	0	0	6125	912	32	0	154	0	FYCO1	3	45965219	In_Frame_Del	DEL	CTC	TCGA-BR-4184-01A-01D-1126-08	934539	45965219	152057211	811	2876											
FYCO1	79443	broad.mit.edu	37	chr3	46008705	46008705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgcagctgctgacactcGccctccttgctctgtagaat	8	16	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:46008705G>A	uc011bal.1	-	6	2233	c.2121C>T	c.(2119-2121)ggC>ggT	p.G707G	FYCO1_uc003cpb.4_Silent_p.G707G	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	707					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCTGACACTCGCCCTCCTTGC	0.612													A	46008705	G	A	46008705	2	1	4	1	0	0	0	0	0	0	0	1	6125	1074	38	1		1	FYCO1	3	46008705	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	43486	46008705	152013725	812	2877											
FYCO1	79443	broad.mit.edu	37	chr3	46009957	46009957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctaccaagcaagtgaggCgaacgttgtcctccgctgca	11	13	0	1	rs146311777	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:46009957C>T	uc011bal.1	-	6	981	c.869G>A	c.(868-870)cGc>cAc	p.R290H	FYCO1_uc003cpb.4_Missense_Mutation_p.R290H	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	290					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCAAGTGAGGCGAACGTTGTC	0.622													T	46009957	C	T	46009957	3	4	4	1	0	0	0	0	1	0	0	0	6125	768	27	1	3611	1	FYCO1	3	46009957	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1252	46009957	152012473	813	2878											
CCR5	1234	broad.mit.edu	37	chr3	46414590	46414590	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggctgaagagcatgactgAcatctacctgctcaacctgg	10	11	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:46414590A>G	uc003cpo.4	+	2	319	c.197A>G	c.(196-198)gAc>gGc	p.D66G	CCR5_uc010hjd.3_Missense_Mutation_p.D66G|CCR5_uc021wxb.1_Missense_Mutation_p.D66G	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	66					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	AGCATGACTGACATCTACCTG	0.502													G	46414590	A	G	46414590	3	3	4	1	0	0	0	0	1	0	0	0	2944	275	10	3	199	3	CCR5	3	46414590	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	404633	46414590	151607840	814	2879											
MYL3	4634	broad.mit.edu	37	chr3	46904789	46904789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaactcgacctccttagggCgctcaggctcagggggaggt	14	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:46904789C>T	uc003cql.1	-	0	185	c.92G>A	c.(91-93)cGc>cAc	p.R31H		NM_000258	NP_000249	P08590	MYL3_HUMAN	Homo sapiens myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3), mRNA.	31					cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|I band|cytosol|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		CTCCTTAGGGCGCTCAGGCTC	0.607													T	46904789	C	T	46904789	3	4	4	1	0	0	0	0	1	0	0	0	10048	768	27	1	519	1	MYL3	3	46904789	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	490199	46904789	151117641	815	2880											
SETD2	29072	broad.mit.edu	37	chr3	47161907	47161907	+	Frame_Shift_Del	DEL	T	T	-													actctctatttcctgcctccTttttttaagaggccctctat							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:47161906_47161906CT>C	uc003cqv.3	-	2	4273	c.4187_4187AG>G	c.(4186-4188)aggfs	p.R1396fs	SETD2_uc003cqs.3_Frame_Shift_Del_p.R1407fs	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTCCTGCCTCCTTTTTTTAAG	0.388			"N, F, S, Mis"		clear cell renal carcinoma								-	47161907	T	-	47161907	7	5	4	1	0	1	0	1	0	0	0	0	14131	1608	56	0	3551	0	SETD2	3	47161907	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	257118	47161907	150860523	816	2881											
PTPN23	25930	broad.mit.edu	37	chr3	47453616	47453616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccccagcaacttgctgcGcttcatccaggaggtgcacg	11	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:47453616G>A	uc003crf.1	+	21	4202	c.4106G>A	c.(4105-4107)cGc>cAc	p.R1369H	PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Missense_Mutation_p.R1239H|BC067356_uc003cri.3_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	1369	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	p.R1369S(1)		breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AACTTGCTGCGCTTCATCCAG	0.632													A	47453616	G	A	47453616	3	1	4	1	0	0	0	0	1	0	0	0	12788	1087	38	1	4192	1	PTPN23	3	47453616	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	291709	47453616	150568814	817	2882											
CSPG5	10675	broad.mit.edu	37	chr3	47604238	47604238	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcctggattttgtggggaGcactaggatcatcctggaag	13	9	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:47604238G>T	uc003crp.4	-	4	1729	c.1553C>A	c.(1552-1554)gCt>gAt	p.A518D	CSPG5_uc003crm.3_Non-coding_Transcript|CSPG5_uc003crn.3_Missense_Mutation_p.A353D|CSPG5_uc003cro.4_Missense_Mutation_p.A491D|CSPG5_uc021wxh.1_Missense_Mutation_p.L466I|CSPG5_uc021wxi.1_Missense_Mutation_p.A353D|CSPG5_uc011bbb.2_Missense_Mutation_p.A380D	NM_001206943	NP_001193872	O95196	CSPG5_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 5 (neuroglycan C) (CSPG5), transcript variant 3, mRNA.	518					cell differentiation|intracellular transport|nervous system development|regulation of growth	Golgi-associated vesicle membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TTTGTGGGGAGCACTAGGATC	0.473													T	47604238	G	T	47604238	3	4	4	1	0	0	0	0	1	0	0	0	3961	971	34	5	151	5	CSPG5	3	47604238	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	150622	47604238	150418192	818	2883											
SMARCC1	6599	broad.mit.edu	37	chr3	47712178	47712178	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaagggtctcctgttcagtCcattctcttccagcactagc	8	13	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:47712178C>T	uc003crq.2	-	18	1987	c.1869G>A	c.(1867-1869)tgG>tgA	p.W623*	SMARCC1_uc011bbc.1_Non-coding_Transcript|SMARCC1_uc011bbd.1_Nonsense_Mutation_p.W514*	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	623	SANT.				chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CCTGTTCAGTCCATTCTCTTC	0.363													T	47712178	C	T	47712178	4	4	4	1	0	0	0	0	0	1	0	0	14775	856	30	4	1488	4	SMARCC1	3	47712178	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	107940	47712178	150310252	819	2884											
DHX30	22907	broad.mit.edu	37	chr3	47888355	47888355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccacaggggacaatgagcGcttctcccgatactttggtg	12	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:47888355G>A	uc003cru.3	+	10	2219	c.1793G>A	c.(1792-1794)cGc>cAc	p.R598H	DHX30_uc003crt.3_Missense_Mutation_p.R559H|MIR1226_uc021wxj.1_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	598	Helicase ATP-binding.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GACAATGAGCGCTTCTCCCGA	0.597													A	47888355	G	A	47888355	3	1	4	1	0	0	0	0	1	0	0	0	4504	1087	38	1	1838	1	DHX30	3	47888355	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	176177	47888355	150134075	820	2885											
SPINK8	646424	broad.mit.edu	37	chr3	48369810	48369810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagctagaacaaggatggCgtctgagcagatccccttca	12	10	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:48369810C>T	uc003csq.1	-	0	22	c.22G>A	c.(22-24)Gcc>Acc	p.A8T		NM_001080525	NP_001073994	P0C7L1	ISK8_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 8 (putative) (SPINK8), mRNA.	8						extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		ACAAGGATGGCGTCTGAGCAG	0.438													T	48369810	C	T	48369810	3	4	4	1	0	0	0	0	1	0	0	0	15064	768	27	1	291	1	SPINK8	3	48369810	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	481455	48369810	149652620	821	2886											
FBXW12	285231	broad.mit.edu	37	chr3	48423521	48423521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaggaggccgccatccatAcctcaggagctgctgtcacc	11	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:48423521A>G	uc003csr.3	+	9	1427	c.1241A>G	c.(1240-1242)tAc>tGc	p.Y414C	FBXW12_uc010hjv.3_Missense_Mutation_p.Y395C|FBXW12_uc003css.3_Missense_Mutation_p.Y344C|FBXW12_uc010hjw.3_Missense_Mutation_p.Y313C	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	414										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGCCATCCATACCTCAGGAGC	0.483													G	48423521	A	G	48423521	3	3	4	1	0	0	0	0	1	0	0	0	5765	391	14	3	1312	3	FBXW12	3	48423521	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	53711	48423521	149598909	822	2887											
PLXNB1	5364	broad.mit.edu	37	chr3	48455097	48455097	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgtacatgaggacaatgAtgatgacacccagagccaga	10	10	0	6			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:48455097A>G	uc003csw.2	-	22	4787	c.4517T>C	c.(4516-4518)aTc>aCc	p.I1506T	PLXNB1_uc003cst.2_5'UTR|PLXNB1_uc003csu.2_Missense_Mutation_p.I1323T|PLXNB1_uc003csx.2_Missense_Mutation_p.I1506T|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1506					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGGACAATGATGATGACACC	0.637													G	48455097	A	G	48455097	3	3	4	1	0	0	0	0	1	0	0	0	12123	333	12	3	1954	3	PLXNB1	3	48455097	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	31576	48455097	149567333	823	2888											
CELSR3	1951	broad.mit.edu	37	chr3	48678953	48678953	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacaggaggtcattgccatcCacatctgtggagccaggtca	12	11	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:48678953C>A	uc003cuf.1	-	34	9123	c.9123G>T	c.(9121-9123)gtG>gtT	p.V3041V	CELSR3_uc010hkf.3_Silent_p.V233V|CELSR3_uc010hkg.3_Silent_p.V926V|CELSR3_uc003cul.3_Silent_p.V2943V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2943					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CATTGCCATCCACATCTGTGG	0.602													A	48678953	C	A	48678953	2	1	4	1	0	0	0	0	0	0	0	1	3223	581	21	5		5	CELSR3	3	48678953	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	223856	48678953	149343477	824	2889											
QRICH1	54870	broad.mit.edu	37	chr3	49095173	49095173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgggactctgcagagacgGggtctgaatggagggggctg	19	7	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:49095173G>A	uc010hkq.3	-	3	756	c.460C>T	c.(460-462)Ccg>Tcg	p.P154S	QRICH1_uc003cvu.3_Missense_Mutation_p.P154S|QRICH1_uc003cvv.3_Missense_Mutation_p.P154S|QRICH1_uc021wxr.1_Missense_Mutation_p.P91S	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	154	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGCAGAGACGGGGTCTGAATG	0.617													A	49095173	G	A	49095173	3	1	4	1	0	0	0	0	1	0	0	0	12879	1232	43	4	1902	4	QRICH1	3	49095173	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	416220	49095173	148927257	825	2890											
QRICH1	54870	broad.mit.edu	37	chr3	49114337	49114337	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcctgaagggcttctggCcccttagaggccagtgagtc	12	12	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:49114337C>T	uc010hkq.3	-	2	410	c.114G>A	c.(112-114)ggG>ggA	p.G38G	QRICH1_uc003cvu.3_Silent_p.G38G|QRICH1_uc003cvv.3_Silent_p.G38G	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	38	CARD.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGGCTTCTGGCCCCTTAGAGG	0.527													T	49114337	C	T	49114337	2	4	4	1	0	0	0	0	0	0	0	1	12879	726	26	2		2	QRICH1	3	49114337	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	19164	49114337	148908093	826	2891											
USP19	10869	broad.mit.edu	37	chr3	49148537	49148537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacacaaactcctgcaagcGctcattgttccgccagacga	7	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:49148537G>A	uc003cwd.2	-	21	3401	c.3082C>T	c.(3082-3084)Cgc>Tgc	p.R1028C	USP19_uc003cwa.3_Missense_Mutation_p.R836C|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Missense_Mutation_p.R1131C|USP19_uc011bcg.2_Missense_Mutation_p.R1119C|USP19_uc003cwc.2_Missense_Mutation_p.R786C|USP19_uc011bch.2_Missense_Mutation_p.R1129C	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	1028					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCTGCAAGCGCTCATTGTTC	0.617													A	49148537	G	A	49148537	3	1	4	1	0	0	0	0	1	0	0	0	17047	1087	38	1	894	1	USP19	3	49148537	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	34200	49148537	148873893	827	2892											
CCDC71	64925	broad.mit.edu	37	chr3	49200838	49200838	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagccccctttcattcgCcggacactgggggacccagt	12	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:49200838C>T	uc003cwg.4	-	1	942	c.804G>A	c.(802-804)cgG>cgA	p.R268R	CCDC71_uc021wxs.1_Silent_p.R268R	NM_022903	NP_075054	Q8IV32	CCD71_HUMAN	Homo sapiens coiled-coil domain containing 71 (CCDC71), mRNA.	268										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTTTCATTCGCCGGACACTGG	0.637													T	49200838	C	T	49200838	2	4	4	1	0	0	0	0	0	0	0	1	2844	726	26	2		2	CCDC71	3	49200838	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	52301	49200838	148821592	828	2893											
CCDC36	339834	broad.mit.edu	37	chr3	49292916	49292916	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catccttgagatgaagaaaaGatttgaagctgtaagtgtaa	10	4	0	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:49292916G>T	uc003cwk.2	+	8	1013	c.626G>T	c.(625-627)aGa>aTa	p.R209I	CCDC36_uc011bck.1_Missense_Mutation_p.R209I	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	Homo sapiens coiled-coil domain containing 36 (CCDC36), transcript variant 1, mRNA.	209								p.R199I(1)		endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		ATGAAGAAAAGATTTGAAGCT	0.398													T	49292916	G	T	49292916	3	4	4	1	0	0	0	0	1	0	0	0	2808	942	33	5	648	5	CCDC36	3	49292916	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	92078	49292916	148729514	829	2894											
USP4	7375	broad.mit.edu	37	chr3	49322015	49322015	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgctcacatgcttctcgtaGgcctatgggaatcaaagcac	9	11	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:49322015G>T	uc003cwq.2	-	17	2353	c.2274C>A	c.(2272-2274)gcC>gcA	p.A758A	USP4_uc003cwp.2_Silent_p.A488A|USP4_uc003cwr.2_Silent_p.A711A	NM_003363	NP_003354	Q13107	UBP4_HUMAN	Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA.	758					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCTTCTCGTAGGCCTATGGGA	0.502													T	49322015	G	T	49322015	2	4	4	1	0	0	0	0	0	0	0	1	17068	987	35	5		5	USP4	3	49322015	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	29099	49322015	148700415	830	2895											
BSN	8927	broad.mit.edu	37	chr3	49694978	49694978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtgagggccatgagcagCgtgggcatccagaccatcag	14	11	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:49694978C>T	uc003cxe.4	+	4	8103	c.7989C>T	c.(7987-7989)agC>agT	p.S2663S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2663					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCATGAGCAGCGTGGGCATCC	0.622													T	49694978	C	T	49694978	2	4	4	1	0	0	0	0	0	0	0	1	1530	767	27	1		1	BSN	3	49694978	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	372963	49694978	148327452	831	2896											
BSN	8927	broad.mit.edu	37	chr3	49699714	49699714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggagcgacttcaaaaagCgggccccaagccctcatccc	10	15	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:49699714C>T	uc003cxe.4	+	5	10550	c.10436C>T	c.(10435-10437)gCg>gTg	p.A3479V		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3479					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTTCAAAAAGCGGGCCCCAAG	0.627													T	49699714	C	T	49699714	3	4	4	1	0	0	0	0	1	0	0	0	1530	768	27	1	10458	1	BSN	3	49699714	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4736	49699714	148322716	832	2897											
IP6K1	9807	broad.mit.edu	37	chr3	49785329	49785329	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgggagatgaggggctTgcacacagtgtgatcgtcgt	15	9	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:49785329T>C	uc021wyl.1	-	1	798	c.145A>G	c.(145-147)Aag>Gag	p.K49E	IP6K1_uc003cxm.1_Missense_Mutation_p.K49E|IP6K1_uc003cxn.1_Intron	NM_001242829	NP_001229758	Q92551	IP6K1_HUMAN	Homo sapiens inositol hexakisphosphate kinase 1 (IP6K1), transcript variant 3, mRNA.	49					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						ATGAGGGGCTTGCACACAGTG	0.562													C	49785329	T	C	49785329	3	2	4	1	0	0	0	0	1	0	0	0	7788	1821	63	3	1200	3	IP6K1	3	49785329	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	85615	49785329	148237101	833	2898											
MST1R	4486	broad.mit.edu	37	chr3	49935976	49935976	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taagcttaggtgggcagtggTcctgttgccaggagccagga	16	8	0	0	rs144558604	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:49935976T>A	uc003cxy.4	-	3	1958	c.1694A>T	c.(1693-1695)gAc>gTc	p.D565V	MST1R_uc011bdc.2_Missense_Mutation_p.D565V|MST1R_uc011bdd.2_Missense_Mutation_p.D565V|MST1R_uc011bde.1_Missense_Mutation_p.D565V|MST1R_uc011bdf.1_Missense_Mutation_p.D459V	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	565					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGGGCAGTGGTCCTGTTGCCA	0.602													A	49935976	T	A	49935976	3	1	4	1	0	0	0	0	1	0	0	0	9891	1667	58	5	2576	5	MST1R	3	49935976	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	150647	49935976	148086454	834	2899											
RBM6	10180	broad.mit.edu	37	chr3	50005976	50005976	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccaagataagtcacagctttCtggacgtgaagagcagagtt	11	8	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:50005976C>T	uc003cyc.3	+	2	1366	c.1118C>T	c.(1117-1119)tCt>tTt	p.S373F	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	373					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TCACAGCTTTCTGGACGTGAA	0.473													T	50005976	C	T	50005976	3	4	4	1	0	0	0	0	1	0	0	0	13144	913	32	4	1124	4	RBM6	3	50005976	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	70000	50005976	148016454	835	2900											
GNAT1	2779	broad.mit.edu	37	chr3	50231062	50231062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggcctgttttgagcgcGcctcggagtaccagctcaac	11	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:50231062G>A	uc003cym.2	+	3	531	c.415G>A	c.(415-417)Gcc>Acc	p.A139T	GNAT1_uc003cyl.2_Missense_Mutation_p.A139T	NM_144499	NP_653082	P11488	GNAT1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 (GNAT1), transcript variant 1, mRNA.	139					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|acyl binding|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TTTTGAGCGCGCCTCGGAGTA	0.697													A	50231062	G	A	50231062	3	1	4	1	0	0	0	0	1	0	0	0	6511	1087	38	1	429	1	GNAT1	3	50231062	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	225086	50231062	147791368	836	2901											
SEMA3B	7869	broad.mit.edu	37	chr3	50314079	50314079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaagggccgtaaccggaGgacccacgcccctgagcctc	13	15	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:50314079G>A	uc003cyu.3	+	18	2431	c.2189G>A	c.(2188-2190)aGg>aAg	p.R730K	SEMA3B_uc003cyt.3_Missense_Mutation_p.R729K|SEMA3B_uc003cyv.3_Missense_Mutation_p.R618K|SEMA3B_uc003cyw.3_Missense_Mutation_p.R454K|SEMA3B_uc010hli.3_Missense_Mutation_p.R623K|SEMA3B_uc003cyx.3_Missense_Mutation_p.R617K|SEMA3B_uc003cyy.3_Missense_Mutation_p.R388K|SEMA3B_uc011bdo.2_Missense_Mutation_p.R388K|C3orf45_uc003cyz.3_5'Flank	NM_004636	NP_004627	Q13214	SEM3B_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B (SEMA3B), transcript variant 1, mRNA.	731	Arg-rich (basic).				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CGTAACCGGAGGACCCACGCC	0.721													A	50314079	G	A	50314079	3	1	4	1	0	0	0	0	1	0	0	0	14025	1000	35	4	2257	4	SEMA3B	3	50314079	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	83017	50314079	147708351	837	2902											
MAPKAPK3	7867	broad.mit.edu	37	chr3	50679181	50679181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaggattcaggagcgtggcGaccaggctttcactgagaga	15	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:50679181G>A	uc003day.2	+	5	1045	c.403G>A	c.(403-405)Gac>Aac	p.D135N	MAPKAPK3_uc003daz.2_Missense_Mutation_p.D135N|MAPKAPK3_uc003dba.2_Missense_Mutation_p.D135N|MAPKAPK3_uc010hlr.2_Missense_Mutation_p.D135N	NM_001243926	NP_001230855	Q16644	MAPK3_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA.	135	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GGAGCGTGGCGACCAGGCTTT	0.522													A	50679181	G	A	50679181	3	1	4	1	0	0	0	0	1	0	0	0	9290	1058	37	1	413	1	MAPKAPK3	3	50679181	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	365102	50679181	147343249	838	2903											
DOCK3	1795	broad.mit.edu	37	chr3	51102018	51102018	+	Frame_Shift_Del	DEL	G	G	-													catcaccgtgcgcctggactGgggtaatgagtaagtatgaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:51102017_51102017TG>T	uc011bds.2	+	5	477	c.454_454TG>T	c.(454-456)tggfs	p.W152fs		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	152						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCGCCTGGACTGGGGTAATGA	0.458													-	51102018	G	-	51102018	7	5	4	1	0	1	0	1	0	0	0	0	4688	1357	47	0	477	0	DOCK3	3	51102018	Frame_Shift_Del	DEL	G	TCGA-BR-4184-01A-01D-1126-08	422837	51102018	146920412	839	2904											
DOCK3	1795	broad.mit.edu	37	chr3	51418570	51418570	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccggcagtgccagcagCggcgtgtcctccttgagtga	14	13	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:51418570C>T	uc011bds.2	+	52	5696	c.5673C>T	c.(5671-5673)agC>agT	p.S1891S		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1891						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTGCCAGCAGCGGCGTGTCCT	0.622													T	51418570	C	T	51418570	2	4	4	1	0	0	0	0	0	0	0	1	4688	767	27	1		1	DOCK3	3	51418570	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	316552	51418570	146603860	840	2905											
VPRBP	9730	broad.mit.edu	37	chr3	51475546	51475546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagacagctcaacaaacatgCgatctggatcagaagatgag	10	8	3	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:51475546C>T	uc003dbe.2	-	7	1066	c.881G>A	c.(880-882)cGc>cAc	p.R294H	VPRBP_uc021wys.1_Missense_Mutation_p.R293H|VPRBP_uc003dbg.2_Missense_Mutation_p.R294H	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	294					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AACAAACATGCGATCTGGATC	0.433													T	51475546	C	T	51475546	3	4	4	1	0	0	0	0	1	0	0	0	17182	768	27	1	3551	1	VPRBP	3	51475546	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	56976	51475546	146546884	841	2906											
RAD54L2	23132	broad.mit.edu	37	chr3	51673538	51673538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctctgcagggaccagtgCccgctgtccaccacagggaa	13	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:51673538C>T	uc011bdt.2	+	11	2089	c.1964C>T	c.(1963-1965)gCc>gTc	p.A655V	RAD54L2_uc003dbh.3_Missense_Mutation_p.A246V|RAD54L2_uc011bdu.2_Missense_Mutation_p.A349V|RAD54L2_uc003dbj.3_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	655						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GGGACCAGTGCCCGCTGTCCA	0.557													T	51673538	C	T	51673538	3	4	4	1	0	0	0	0	1	0	0	0	12994	739	26	2	2006	2	RAD54L2	3	51673538	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	197992	51673538	146348892	842	2907											
GRM2	2912	broad.mit.edu	37	chr3	51750038	51750038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttatgccttcaagactcGcaagtgccccgaaaacttca	7	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:51750038G>A	uc010hlv.3	+	3	2488	c.2249G>A	c.(2248-2250)cGc>cAc	p.R750H	GRM2_uc003dbo.4_Missense_Mutation_p.R132H|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	750					synaptic transmission	integral to plasma membrane		p.R750C(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TTCAAGACTCGCAAGTGCCCC	0.547													A	51750038	G	A	51750038	3	1	4	1	0	0	0	0	1	0	0	0	6797	1087	38	1	2259	1	GRM2	3	51750038	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	76500	51750038	146272392	843	2908											
PCBP4	57060	broad.mit.edu	37	chr3	51993937	51993937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gataacagcgcagatctggcGcacacacaggatgatggcat	12	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:51993937G>A	uc003dcc.2	-	3	1274	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	PCBP4_uc003dcb.2_Missense_Mutation_p.R130C|PCBP4_uc003dcf.2_Missense_Mutation_p.R164C|PCBP4_uc003dce.2_Missense_Mutation_p.R164C|PCBP4_uc003dcg.2_Missense_Mutation_p.R130C|PCBP4_uc003dcj.2_Missense_Mutation_p.R164C|PCBP4_uc003dck.2_Intron|PCBP4_uc003dch.2_Missense_Mutation_p.R164C|PCBP4_uc003dci.2_Intron			P57723	PCBP4_HUMAN	Homo sapiens poly(rC) binding protein 4 (PCBP4), transcript variant 4, mRNA.	164						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAGATCTGGCGCACACACAGG	0.642													A	51993937	G	A	51993937	3	1	4	1	0	0	0	0	1	0	0	0	11503	1087	38	1	749	1	PCBP4	3	51993937	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	243899	51993937	146028493	844	2909											
ABHD14A	25864	broad.mit.edu	37	chr3	52014637	52014637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccaggagcaattctgggCtgtgaaggtactgggagaag	15	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:52014637C>T	uc003dco.3	+	3	736	c.626C>T	c.(625-627)gCt>gTt	p.A209V	ABHD14B_uc003dcn.3_Intron|ACY1_uc011bea.2_Intron|ACY1_uc011beb.2_5'Flank|ACY1_uc003dcp.3_5'Flank|ACY1_uc003dcq.3_5'Flank|ACY1_uc021wzb.1_5'Flank|ACY1_uc021wzc.1_5'Flank|ACY1_uc021wzd.1_5'Flank	NM_015407	NP_056222	Q9BUJ0	ABHEA_HUMAN	Homo sapiens abhydrolase domain containing 14A (ABHD14A), mRNA.	209						cytoplasm|integral to membrane	hydrolase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAATTCTGGGCTGTGAAGGTA	0.567													T	52014637	C	T	52014637	3	4	4	1	0	0	0	0	1	0	0	0	79	797	28	2	640	2	ABHD14A	3	52014637	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	20700	52014637	146007793	845	2910											
GLYCTK	132158	broad.mit.edu	37	chr3	52326603	52326603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtgatgtaaaaagtatgGcccagttctacgggctgctg	13	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:52326603G>A	uc003ddo.3	+	4	1129	c.1033G>A	c.(1033-1035)Gcc>Acc	p.A345T	GLYCTK_uc003ddq.2_3'UTR|GLYCTK_uc003ddm.3_Intron|GLYCTK_uc003ddn.3_Intron|GLYCTK_uc003ddp.1_Intron|GLYCTK_uc003ddr.3_Missense_Mutation_p.A9T	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	Homo sapiens glycerate kinase (GLYCTK), transcript variant 1, mRNA.	345					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		AAAAAGTATGGCCCAGTTCTA	0.612													A	52326603	G	A	52326603	3	1	4	1	0	0	0	0	1	0	0	0	6482	1203	42	2	1047	2	GLYCTK	3	52326603	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	311966	52326603	145695827	846	2911											
DNAH1	25981	broad.mit.edu	37	chr3	52392637	52392637	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccgagggggaggaggtacagTtgtgcttctccatctacccc	13	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:52392637T>A	uc011bef.2	+	24	4411	c.4150T>A	c.(4150-4152)Ttg>Atg	p.L1384M		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1384	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGAGGTACAGTTGTGCTTCTC	0.597													A	52392637	T	A	52392637	3	1	4	1	0	0	0	0	1	0	0	0	4597	1722	60	5	4244	5	DNAH1	3	52392637	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	66034	52392637	145629793	847	2912											
STAB1	23166	broad.mit.edu	37	chr3	52556909	52556909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagtcagcctgggtgcccGcaagaacctctcagaacgct	10	14	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:52556909G>A	uc003dej.3	+	61	6937	c.6863G>A	c.(6862-6864)cGc>cAc	p.R2288H	STAB1_uc003dek.1_Missense_Mutation_p.R303H|STAB1_uc003del.3_Missense_Mutation_p.R175H	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2288	Link.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.R2288H(2)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGGGTGCCCGCAAGAACCTC	0.617													A	52556909	G	A	52556909	3	1	4	1	0	0	0	0	1	0	0	0	15236	1087	38	1	7109	1	STAB1	3	52556909	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	164272	52556909	145465521	848	2913											
ITIH3	3699	broad.mit.edu	37	chr3	52840399	52840399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccaggcacagtgctgcGccttattcaggatgcagtca	11	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:52840399G>A	uc003dfv.2	+	17	2069	c.2033G>A	c.(2032-2034)cGc>cAc	p.R678H	ITIH3_uc011bek.1_Intron	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	678					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.R678H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACAGTGCTGCGCCTTATTCAG	0.612													A	52840399	G	A	52840399	3	1	4	1	0	0	0	0	1	0	0	0	7905	1087	38	1	2103	1	ITIH3	3	52840399	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	283490	52840399	145182031	849	2914											
ITIH4	3700	broad.mit.edu	37	chr3	52860646	52860646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaagctgatgccctgggGctcgaagatgtgaatgtcca	13	9	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:52860646G>A	uc011bem.2	-	4	569	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S	ITIH4_uc011bel.2_5'Flank|ITIH4_uc003dfy.3_Missense_Mutation_p.P57S|ITIH4_uc003dfz.3_Missense_Mutation_p.P181S|ITIH4_uc011ben.2_Missense_Mutation_p.P181S	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	181					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.P181L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ATGCCCTGGGGCTCGAAGATG	0.597													A	52860646	G	A	52860646	3	1	4	1	0	0	0	0	1	0	0	0	7906	1203	42	2	2331	2	ITIH4	3	52860646	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	20247	52860646	145161784	850	2915											
SFMBT1	51460	broad.mit.edu	37	chr3	52966139	52966139	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaacgtgatgaagaaatggAtccaagtaatacaaccaatg	8	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:52966139A>T	uc003dgf.3	-	6	1262	c.639T>A	c.(637-639)gaT>gaA	p.D213E	SFMBT1_uc010hmr.3_Missense_Mutation_p.D160E|SFMBT1_uc003dgg.3_Missense_Mutation_p.D213E|SFMBT1_uc003dgh.3_Missense_Mutation_p.D213E	NM_001005159	NP_057413	Q9UHJ3	SMBT1_HUMAN	Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA.	213					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GAAGAAATGGATCCAAGTAAT	0.408													T	52966139	A	T	52966139	3	4	4	1	0	0	0	0	1	0	0	0	14157	330	12	5	2025	5	SFMBT1	3	52966139	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	105493	52966139	145056291	851	2916											
PRKCD	5580	broad.mit.edu	37	chr3	53222784	53222784	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaccgggatggccacatcaaGattgccgactttgggatgtg	14	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:53222784G>T	uc003dgl.3	+	15	1817	c.1464G>T	c.(1462-1464)aaG>aaT	p.K488N	PRKCD_uc003dgm.3_Missense_Mutation_p.K488N	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	488	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of MAP kinase activity|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GCCACATCAAGATTGCCGACT	0.562													T	53222784	G	T	53222784	3	4	4	1	0	0	0	0	1	0	0	0	12509	933	33	5	1518	5	PRKCD	3	53222784	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	256645	53222784	144799646	852	2917											
CACNA1D	776	broad.mit.edu	37	chr3	53778828	53778828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcctgcgtcccctcaggGccatcaacagagcaaaagga	12	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:53778828G>A	uc003dgv.4	+	22	3143	c.2980G>A	c.(2980-2982)Gcc>Acc	p.A994T	CACNA1D_uc003dgu.4_Missense_Mutation_p.A1014T|CACNA1D_uc003dgy.4_Missense_Mutation_p.A994T|CACNA1D_uc003dgw.4_Missense_Mutation_p.A661T|CACNA1D_uc003dgx.1_Missense_Mutation_p.A142T	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	994					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCCCCTCAGGGCCATCAACAG	0.547													A	53778828	G	A	53778828	3	1	4	1	0	0	0	0	1	0	0	0	2541	1203	42	2	3242	2	CACNA1D	3	53778828	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	556044	53778828	144243602	853	2918											
IL17RB	55540	broad.mit.edu	37	chr3	53899038	53899038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgacgtcaacagtgtgtgCgatggtacctgtggcaagag	14	7	1	2	rs3733078		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:53899038C>T	uc003dha.3	+	10	1251	c.1212C>T	c.(1210-1212)tgC>tgT	p.C404C		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	Homo sapiens interleukin 17 receptor B (IL17RB), mRNA.	404	SEFIR.				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		ACAGTGTGTGCGATGGTACCT	0.502													T	53899038	C	T	53899038	2	4	4	1	0	0	0	0	0	0	0	1	7640	776	27	1		1	IL17RB	3	53899038	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	120210	53899038	144123392	854	2919											
ACTR8	93973	broad.mit.edu	37	chr3	53905304	53905304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctttatccaggcccagggCttttccttcaaacagcgaga	10	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:53905304C>T	uc003dhd.3	-	10	1623	c.1522G>A	c.(1522-1524)Gcc>Acc	p.A508T	ACTR8_uc003dhb.3_Missense_Mutation_p.A213T|ACTR8_uc003dhc.3_Missense_Mutation_p.A397T	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.	508					DNA recombination|DNA repair|cell division|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		AGGCCCAGGGCTTTTCCTTCA	0.532													T	53905304	C	T	53905304	3	4	4	1	0	0	0	0	1	0	0	0	217	797	28	2	364	2	ACTR8	3	53905304	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	6266	53905304	144117126	855	2920											
CACNA2D3	55799	broad.mit.edu	37	chr3	54922046	54922046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgagtgcccccattgaagCgtattggaccagcctggccc	13	13	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:54922046C>T	uc003dhf.3	+	23	2165	c.2117C>T	c.(2116-2118)gCg>gTg	p.A706V	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.A612V|CACNA2D3_uc003dhh.1_Non-coding_Transcript|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	706						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCCATTGAAGCGTATTGGACC	0.502													T	54922046	C	T	54922046	3	4	4	1	0	0	0	0	1	0	0	0	2550	768	27	1	2211	1	CACNA2D3	3	54922046	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1016742	54922046	143100384	856	2921											
LRTM1	57408	broad.mit.edu	37	chr3	54952504	54952504	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggctggtgagctgtcAaatcgctctttttcttccac	8	12	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:54952504A>G	uc003dhl.3	-	2	1154	c.1020T>C	c.(1018-1020)ttT>ttC	p.F340F	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	340						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GTGAGCTGTCAAATCGCTCTT	0.502													G	54952504	A	G	54952504	2	3	4	1	0	0	0	0	0	0	0	1	9044	127	5	3		3	LRTM1	3	54952504	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	30458	54952504	143069926	857	2922											
CACNA2D3	55799	broad.mit.edu	37	chr3	55038847	55038847	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaaggaaagcagcgatggCgcccatggcctcctggatgt	13	11	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:55038847C>T	uc003dhf.3	+	31	2796	c.2748C>T	c.(2746-2748)ggC>ggT	p.G916G	CACNA2D3_uc003dhg.1_Silent_p.G822G|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	916						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GCAGCGATGGCGCCCATGGCC	0.453													T	55038847	C	T	55038847	2	4	4	1	0	0	0	0	0	0	0	1	2550	755	27	1		1	CACNA2D3	3	55038847	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	86343	55038847	142983583	858	2923											
ERC2	26059	broad.mit.edu	37	chr3	55922476	55922476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccggaggttggccaagtgCgcttctttttcggccaggga	14	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:55922476C>T	uc021wzo.1	-	12	2645	c.2505G>A	c.(2503-2505)gcG>gcA	p.A835A	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_Silent_p.A831A|ERC2_uc003dht.1_Silent_p.A314A	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	835						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.A835A(3)|p.E834D(1)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGGCCAAGTGCGCTTCTTTTT	0.537													T	55922476	C	T	55922476	2	4	4	1	0	0	0	0	0	0	0	1	5211	755	27	1		1	ERC2	3	55922476	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	883629	55922476	142099954	859	2924											
IL17RD	54756	broad.mit.edu	37	chr3	57136541	57136541	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcacatcacagtgaagagCgtcgcgaatgccgatatgac	12	11	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:57136541C>T	uc003dil.3	-	9	1034	c.945G>A	c.(943-945)acG>acA	p.T315T	IL17RD_uc003dik.3_Silent_p.T291T|IL17RD_uc010hna.3_Silent_p.T171T|IL17RD_uc011bex.1_Silent_p.T171T	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	315						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CAGTGAAGAGCGTCGCGAATG	0.567													T	57136541	C	T	57136541	2	4	4	1	0	0	0	0	0	0	0	1	7642	755	27	1		1	IL17RD	3	57136541	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1214065	57136541	140885889	860	2925											
APPL1	26060	broad.mit.edu	37	chr3	57293966	57293966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgtttatgaaactatgcGccaaatcttagctgcccggg	10	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:57293966G>A	uc003dio.3	+	16	1724	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	APPL1_uc010hnb.3_Missense_Mutation_p.R526H|APPL1_uc011bey.1_Missense_Mutation_p.R509H	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	526	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GAAACTATGCGCCAAATCTTA	0.378													A	57293966	G	A	57293966	3	1	4	1	0	0	0	0	1	0	0	0	817	1087	38	1	1643	1	APPL1	3	57293966	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	157425	57293966	140728464	861	2926											
SLMAP	7871	broad.mit.edu	37	chr3	57898261	57898261	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcctctgagcgggacactgAcattgcttctttacaagaag	10	10	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:57898261A>G	uc003dje.1	+	17	2007	c.1802A>G	c.(1801-1803)gAc>gGc	p.D601G	SLMAP_uc003djd.1_Missense_Mutation_p.D584G|SLMAP_uc003djf.1_Missense_Mutation_p.D563G|SLMAP_uc003djg.1_Missense_Mutation_p.D195G|SLMAP_uc011bez.1_Missense_Mutation_p.D69G|SLMAP_uc011bfa.1_Missense_Mutation_p.D135G|SLMAP_uc003djh.3_Missense_Mutation_p.D94G|SLMAP_uc003dji.1_Missense_Mutation_p.D135G|SLMAP_uc011bfb.1_Missense_Mutation_p.D135G|SLMAP_uc011bfc.1_Missense_Mutation_p.D94G	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	Homo sapiens sarcolemma associated protein (SLMAP), mRNA.	601					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CGGGACACTGACATTGCTTCT	0.453													G	57898261	A	G	57898261	3	3	4	1	0	0	0	0	1	0	0	0	14749	275	10	3	1817	3	SLMAP	3	57898261	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	604295	57898261	140124169	862	2927											
FLNB	2317	broad.mit.edu	37	chr3	58129201	58129201	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtctctctgtgctccataggAgaggtccacatgccttctgg	11	12	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:58129201A>T	uc003djj.2	+	32	5450	c.5285_splice	c.e32-1	p.G1762_splice	FLNB_uc010hne.2_Splice_Site_p.G1793_splice|FLNB_uc003djk.2_Splice_Site_p.G1751_splice|FLNB_uc010hnf.2_Splice_Site_p.G1738_splice|FLNB_uc003djl.2_Splice_Site_p.G1582_splice|FLNB_uc003djm.2_Splice_Site_p.G1569_splice	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1762					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCTCCATAGGAGAGGTCCACA	0.547													T	58129201	A	T	58129201	5	4	4	1	0	0	0	0	0	0	1	0	5934	318	11	5	5509	5	FLNB	3	58129201	Splice_Site	SNP	A	TCGA-BR-4184-01A-01D-1126-08	230940	58129201	139893229	863	2928											
FEZF2	55079	broad.mit.edu	37	chr3	62355881	62355881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccctttgccgcaagtggcGcacgtgaaaggcttcttgtc	11	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:62355881G>A	uc003dlh.2	-	3	1464	c.1257C>T	c.(1255-1257)tgC>tgT	p.C419C	FEZF2_uc003dli.2_Silent_p.C419C	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	Homo sapiens FEZ family zinc finger 2 (FEZF2), mRNA.	419					transcription, DNA-dependent	nucleus	zinc ion binding	p.C419C(4)|p.T418M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CGCAAGTGGCGCACGTGAAAG	0.522													A	62355881	G	A	62355881	2	1	4	1	0	0	0	0	0	0	0	1	5826	1079	38	1		1	FEZF2	3	62355881	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4226680	62355881	135666549	864	2929											
FEZF2	55079	broad.mit.edu	37	chr3	62355985	62355985	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatttgtactgcttctcgcCgctgtgggtcagcttgtggt	12	10	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:62355985C>A	uc003dlh.2	-	3	1360	c.1153G>T	c.(1153-1155)Ggc>Tgc	p.G385C	FEZF2_uc003dli.2_Missense_Mutation_p.G385C	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	Homo sapiens FEZ family zinc finger 2 (FEZF2), mRNA.	385					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		TGCTTCTCGCCGCTGTGGGTC	0.507													A	62355985	C	A	62355985	3	1	4	1	0	0	0	0	1	0	0	0	5826	652	23	5	230	5	FEZF2	3	62355985	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	104	62355985	135666445	865	2930											
THOC7	80145	broad.mit.edu	37	chr3	63825403	63825403	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agattaattctccgatcatcTccagcaccatctccatcaat	3	14	5	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:63825403T>G	uc003dlt.4	-	1	197	c.66A>C	c.(64-66)ggA>ggC	p.G22G	C3orf49_uc003dls.4_Intron|THOC7_uc003dlu.4_Intron	NM_025075	NP_079351	Q6I9Y2	THOC7_HUMAN	Homo sapiens THO complex 7 homolog (Drosophila) (THOC7), mRNA.	22					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex|cytoplasm	RNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		TCCGATCATCTCCAGCACCAT	0.438													G	63825403	T	G	63825403	2	3	4	1	0	0	0	0	0	0	0	1	15867	1538	54	5		5	THOC7	3	63825403	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1469418	63825403	134197027	866	2931											
ATXN7	6314	broad.mit.edu	37	chr3	63965619	63965619	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagctcatccagcaagccGcctttggccgttcctcccac	7	18	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:63965619G>A	uc003dlv.3	+	5	1081	c.528G>A	c.(526-528)ccG>ccA	p.P176P	ATXN7_uc003dlw.4_Silent_p.P176P|ATXN7_uc021wzy.1_Silent_p.P176P|ATXN7_uc010hnw.3_Silent_p.P31P|ATXN7_uc011bfn.2_Silent_p.P31P	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	176	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	p.P176P(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CCAGCAAGCCGCCTTTGGCCG	0.443													A	63965619	G	A	63965619	2	1	4	1	0	0	0	0	0	0	0	1	1215	1074	38	1		1	ATXN7	3	63965619	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	140216	63965619	134056811	867	2932											
ATXN7	6314	broad.mit.edu	37	chr3	63975975	63975975	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggttatccagtgaggagggCgaaggcgatgacaaagaaga	16	6	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:63975975C>T	uc003dlv.3	+	9	2038	c.1485C>T	c.(1483-1485)ggC>ggT	p.G495G	ATXN7_uc003dlw.4_Silent_p.G495G|ATXN7_uc021wzy.1_Silent_p.G495G|ATXN7_uc011bfn.2_Silent_p.G350G	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	495					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	p.G495G(3)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GTGAGGAGGGCGAAGGCGATG	0.552													T	63975975	C	T	63975975	2	4	4	1	0	0	0	0	0	0	0	1	1215	755	27	1		1	ATXN7	3	63975975	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	10356	63975975	134046455	868	2933											
PRICKLE2	166336	broad.mit.edu	37	chr3	64084813	64084813	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtggaagatttggggaggcCgtaggagctgtatttgtgca	17	4	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:64084813C>A	uc003dmf.3	-	7	3035	c.2449G>T	c.(2449-2451)Ggc>Tgc	p.G817C		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	817						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TTGGGGAGGCCGTAGGAGCTG	0.502													A	64084813	C	A	64084813	3	1	4	1	0	0	0	0	1	0	0	0	12487	652	23	5	89	5	PRICKLE2	3	64084813	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	108838	64084813	133937617	869	2934											
PRICKLE2	166336	broad.mit.edu	37	chr3	64084864	64084864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgtgacgtatcgcaggcGcgctggctgggggatgggtt	19	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:64084864G>A	uc003dmf.3	-	7	2984	c.2398C>T	c.(2398-2400)Cgc>Tgc	p.R800C		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	800						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TATCGCAGGCGCGCTGGCTGG	0.557													A	64084864	G	A	64084864	3	1	4	1	0	0	0	0	1	0	0	0	12487	1087	38	1	140	1	PRICKLE2	3	64084864	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	51	64084864	133937566	870	2935											
ADAMTS9	56999	broad.mit.edu	37	chr3	64641547	64641547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggtctttatagatagagGctacctgcaaccgagataaa	10	7	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:64641547G>A	uc003dmg.3	-	4	1006	c.974C>T	c.(973-975)gCc>gTc	p.A325V	ADAMTS9_uc011bfo.2_Intron|ADAMTS9_uc003dmh.1_Missense_Mutation_p.A154V|ADAMTS9_uc003dmk.1_Missense_Mutation_p.A325V	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	325	Peptidase M12B.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ATAGATAGAGGCTACCTGCAA	0.318													A	64641547	G	A	64641547	3	1	4	1	0	0	0	0	1	0	0	0	273	1203	42	2	4973	2	ADAMTS9	3	64641547	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	556683	64641547	133380883	871	2936											
MAGI1	9223	broad.mit.edu	37	chr3	65415516	65415516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagaactatttgaagccaCgtccgctgggctgcttggcc	12	11	0	2	rs151058544	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:65415516C>T	uc003dmn.3	-	11	2372	c.1846G>A	c.(1846-1848)Gtg>Atg	p.V616M	MAGI1_uc003dmm.3_Missense_Mutation_p.V616M|MAGI1_uc003dmo.3_Missense_Mutation_p.V616M|MAGI1_uc003dmp.3_Missense_Mutation_p.V616M|MAGI1_uc010hny.2_Missense_Mutation_p.V501M	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	616					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTTGAAGCCACGTCCGCTGGG	0.468													T	65415516	C	T	65415516	3	4	4	1	0	0	0	0	1	0	0	0	9190	536	19	1	2824	1	MAGI1	3	65415516	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	773969	65415516	132606914	872	2937											
PDZRN3	23024	broad.mit.edu	37	chr3	73453360	73453360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggacatcttagtgagggCcatgatatgttcaaaggtga	13	5	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:73453360C>T	uc003dpl.1	-	3	1201	c.1105G>A	c.(1105-1107)Gcc>Acc	p.A369T	PDZRN3_uc011bgh.1_Missense_Mutation_p.A26T|PDZRN3_uc010hoe.1_Missense_Mutation_p.A67T|PDZRN3_uc011bgf.1_Missense_Mutation_p.A86T|PDZRN3_uc011bgg.1_Missense_Mutation_p.A89T	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	369							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTAGTGAGGGCCATGATATGT	0.498													T	73453360	C	T	73453360	3	4	4	1	0	0	0	0	1	0	0	0	11709	739	26	2	2123	2	PDZRN3	3	73453360	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	8037844	73453360	124569070	873	2938											
CNTN3	5067	broad.mit.edu	37	chr3	74334502	74334502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcgctaaaaggcccagcGccggcactgttgtaagcccg	14	13	0	0	rs142860919		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:74334502G>A	uc003dpm.1	-	18	2738	c.2658C>T	c.(2656-2658)ggC>ggT	p.G886G		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	886	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AAGGCCCAGCGCCGGCACTGT	0.468													A	74334502	G	A	74334502	2	1	4	1	0	0	0	0	0	0	0	1	3642	1074	38	1		1	CNTN3	3	74334502	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	881142	74334502	123687928	874	2939											
ROBO2	6092	broad.mit.edu	37	chr3	77666778	77666778	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacacctcctgttcgaggCgtggcttcttctcctgctat	8	15	2	0	rs143561771	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:77666778C>T	uc011bgk.2	+	22	4063	c.3420C>T	c.(3418-3420)ggC>ggT	p.G1140G	ROBO2_uc021xat.1_Silent_p.G1152G|ROBO2_uc003dpy.4_Silent_p.G1136G|ROBO2_uc003dpz.3_Silent_p.G1140G|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Silent_p.G263G	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1136					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTGTTCGAGGCGTGGCTTCTT	0.532													T	77666778	C	T	77666778	2	4	4	1	0	0	0	0	0	0	0	1	13514	755	27	1		1	ROBO2	3	77666778	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3332276	77666778	120355652	875	2940											
ROBO2	6092	broad.mit.edu	37	chr3	77684125	77684125	+	Frame_Shift_Del	DEL	A	A	-													gtcagaggcctcggcccactAaaaaacacaagggagggcgg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:77684124_77684124TA>T	uc011bgk.2	+	24	4519	c.3876_3876TA>T	c.(3874-3876)actfs	p.T1292fs	ROBO2_uc021xat.1_Frame_Shift_Del_p.T1304fs|ROBO2_uc003dpy.4_Frame_Shift_Del_p.T1288fs|ROBO2_uc003dpz.3_Frame_Shift_Del_p.T1353fs|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1288					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTCGGCCCACTAAAAAACACA	0.502													-	77684125	A	-	77684125	7	5	4	1	0	1	0	1	0	0	0	0	13514	363	13	0	3961	0	ROBO2	3	77684125	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	17347	77684125	120338305	876	2941											
ROBO2	6092	broad.mit.edu	37	chr3	77693990	77693990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggccaccagcgcaatgCcagcgaccttcttgacatag	10	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:77693990C>T	uc011bgk.2	+	25	4725	c.4082C>T	c.(4081-4083)gCc>gTc	p.A1361V	ROBO2_uc021xat.1_Missense_Mutation_p.A1373V|ROBO2_uc003dpy.4_Missense_Mutation_p.A1357V|ROBO2_uc003dpz.3_Missense_Mutation_p.A1422V|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1357					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAGCGCAATGCCAGCGACCTT	0.488													T	77693990	C	T	77693990	3	4	4	1	0	0	0	0	1	0	0	0	13514	739	26	2	4170	2	ROBO2	3	77693990	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	9865	77693990	120328440	877	2942											
CGGBP1	8545	broad.mit.edu	37	chr3	88104713	88104713	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctgacttaggtatggaGcctccattcttcacatggcg	11	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:88104713G>A	uc003dqs.3	-	3	926	c.414C>T	c.(412-414)ggC>ggT	p.G138G	CGGBP1_uc003dqt.3_Silent_p.G138G|CGGBP1_uc003dqu.3_Silent_p.G138G|CGGBP1_uc021xbe.1_Silent_p.G138G	NM_001008390	NP_003654	Q9UFW8	CGBP1_HUMAN	Homo sapiens CGG triplet repeat binding protein 1 (CGGBP1), transcript variant 1, mRNA.	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		TAGGTATGGAGCCTCCATTCT	0.478													A	88104713	G	A	88104713	2	1	4	1	0	0	0	0	0	0	0	1	3302	958	34	2		2	CGGBP1	3	88104713	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	10410723	88104713	109917717	878	2943											
EPHA3	2042	broad.mit.edu	37	chr3	89259600	89259600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtactgcagtacagaaggCgaatggcttgtacccattgg	12	8	0	1	rs150099876	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:89259600C>T	uc003dqy.3	+	2	969	c.744C>T	c.(742-744)ggC>ggT	p.G248G	EPHA3_uc003dqx.1_Silent_p.G248G|EPHA3_uc021xbf.1_Silent_p.G248G	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	248	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTACAGAAGGCGAATGGCTTG	0.478										TSP Lung(6;0.00050)			T	89259600	C	T	89259600	2	4	4	1	0	0	0	0	0	0	0	1	5168	755	27	1		1	EPHA3	3	89259600	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1154887	89259600	108762830	879	2944											
NSUN3	63899	broad.mit.edu	37	chr3	93803031	93803031	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttttgaactggaaaaggAtttacatttgaagggctatc	9	6	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:93803031A>G	uc003drl.1	+	2	319	c.203A>G	c.(202-204)gAt>gGt	p.D68G		NM_022072	NP_071355	Q9H649	NSUN3_HUMAN	Homo sapiens NOP2/Sun domain family, member 3 (NSUN3), mRNA.	68							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						CTGGAAAAGGATTTACATTTG	0.413													G	93803031	A	G	93803031	3	3	4	1	0	0	0	0	1	0	0	0	10679	333	12	3	213	3	NSUN3	3	93803031	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	4543431	93803031	104219399	880	2945											
EPHA6	285220	broad.mit.edu	37	chr3	96706649	96706649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcactgttcgtaacttggCcatgtttcctgataccattc	6	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:96706649C>T	uc010how.1	+	2	969	c.926C>T	c.(925-927)gCc>gTc	p.A309V	EPHA6_uc003drp.1_Missense_Mutation_p.A309V	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	214						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CGTAACTTGGCCATGTTTCCT	0.463													T	96706649	C	T	96706649	3	4	4	1	0	0	0	0	1	0	0	0	5171	739	26	2	936	2	EPHA6	3	96706649	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2903618	96706649	101315781	881	2946											
MINA	84864	broad.mit.edu	37	chr3	97666220	97666220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacagattgatcttgatcCggcagtactgtgaggacaat	10	9	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:97666220C>T	uc003drz.1	-	7	1640	c.1134G>A	c.(1132-1134)ccG>ccA	p.P378P	MINA_uc003dsa.1_Silent_p.P377P|MINA_uc003dsb.1_Silent_p.P378P|MINA_uc003dsc.1_Silent_p.P377P|MINA_uc010hpa.1_Non-coding_Transcript	NM_001042533	NP_694822	Q8IUF8	MINA_HUMAN	Homo sapiens MYC induced nuclear antigen (MINA), transcript variant 1, mRNA.	378					ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						GATCTTGATCCGGCAGTACTG	0.463													T	97666220	C	T	97666220	2	4	4	1	0	0	0	0	0	0	0	1	9586	639	23	1		1	MINA	3	97666220	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	959571	97666220	100356210	882	2947											
MINA	84864	broad.mit.edu	37	chr3	97686148	97686148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcagacattcacatctcttCcatagtacatcccccggctg	7	15	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:97686148C>T	uc003drz.1	-	1	796	c.290G>A	c.(289-291)gGa>gAa	p.G97E	MINA_uc003dsa.1_Missense_Mutation_p.G97E|MINA_uc003dsb.1_Missense_Mutation_p.G97E|MINA_uc003dsc.1_Missense_Mutation_p.G97E|MINA_uc010hpa.1_Non-coding_Transcript|MINA_uc010hpb.1_Intron	NM_001042533	NP_694822	Q8IUF8	MINA_HUMAN	Homo sapiens MYC induced nuclear antigen (MINA), transcript variant 1, mRNA.	97					ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CACATCTCTTCCATAGTACAT	0.453													T	97686148	C	T	97686148	3	4	4	1	0	0	0	0	1	0	0	0	9586	855	30	4	1143	4	MINA	3	97686148	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	19928	97686148	100336282	883	2948											
NIT2	56954	broad.mit.edu	37	chr3	100058029	100058029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaggcagcaacgcaaggaGccaaaatagtttctttgccg	13	9	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:100058029G>A	uc003dtv.3	+	1	180	c.106G>A	c.(106-108)Gcc>Acc	p.A36T	NIT2_uc011bha.1_Missense_Mutation_p.A36T	NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN	Homo sapiens nitrilase family, member 2 (NIT2), mRNA.	36	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						AACGCAAGGAGCCAAAATAGT	0.507													A	100058029	G	A	100058029	3	1	4	1	0	0	0	0	1	0	0	0	10434	971	34	2	112	2	NIT2	3	100058029	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2371881	100058029	97964401	884	2949											
FAM55C	91775	broad.mit.edu	37	chr3	101520245	101520245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgctggctgccttgcaccGgcaggttcctgatgtgggcc	14	13	0	1	rs143859535		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:101520245G>A	uc003dvn.3	+	4	897	c.260G>A	c.(259-261)cGg>cAg	p.R87Q	FAM55C_uc010hpn.3_Missense_Mutation_p.R87Q	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	87						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						GCCTTGCACCGGCAGGTTCCT	0.552													A	101520245	G	A	101520245	3	1	4	1	0	0	0	0	1	0	0	0	5586	1116	39	1	266	1	FAM55C	3	101520245	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1462216	101520245	96502185	885	2950											
ALCAM	214	broad.mit.edu	37	chr3	105243139	105243139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttaatttttaggaaaagCccgatggctccccagtattt	7	8	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:105243139C>T	uc003dvx.3	+	2	877	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	ALCAM_uc003dvv.3_Missense_Mutation_p.P61S|ALCAM_uc003dvw.2_Missense_Mutation_p.P61S|ALCAM_uc003dvy.3_Missense_Mutation_p.P61S|ALCAM_uc011bhh.1_Missense_Mutation_p.P10S	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	61	Ig-like V-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ttaGGAAAAGCCCGATGGCTC	0.353													T	105243139	C	T	105243139	3	4	4	1	0	0	0	0	1	0	0	0	487	739	26	2	191	2	ALCAM	3	105243139	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3722894	105243139	92779291	886	2951											
ALCAM	214	broad.mit.edu	37	chr3	105252485	105252485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagacagttatccagatggCaatatcacatggtacaggaa	10	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:105252485C>T	uc003dvx.3	+	4	1194	c.498C>T	c.(496-498)ggC>ggT	p.G166G	ALCAM_uc003dvw.2_Silent_p.G166G|ALCAM_uc003dvy.3_Silent_p.G166G|ALCAM_uc011bhh.1_Silent_p.G115G|ALCAM_uc010hpp.3_5'UTR	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	166	Ig-like V-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ATCCAGATGGCAATATCACAT	0.453													T	105252485	C	T	105252485	2	4	4	1	0	0	0	0	0	0	0	1	487	697	25	2		2	ALCAM	3	105252485	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	9346	105252485	92769945	887	2952											
CBLB	868	broad.mit.edu	37	chr3	105400357	105400357	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagatcataatcagagggCgtcctgttgagtgaagaacc	12	7	2	6			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:105400357C>T	uc003dwc.3	-	15	2716	c.2394G>A	c.(2392-2394)acG>acA	p.T798T	CBLB_uc003dwa.3_Intron|CBLB_uc011bhi.2_Intron|CBLB_uc003dwd.2_Silent_p.T798T|CBLB_uc003dwe.2_3'UTR	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	798	Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AATCAGAGGGCGTCCTGTTGA	0.438			Mis S		AML								T	105400357	C	T	105400357	2	4	4	1	0	0	0	0	0	0	0	1	2701	755	27	1		1	CBLB	3	105400357	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	147872	105400357	92622073	888	2953											
CBLB	868	broad.mit.edu	37	chr3	105404299	105404299	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaagagaatttgctaacGgaccagtacacctaccaggg	10	10	0	2	rs151321164	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:105404299G>T	uc003dwc.3	-	13	2388	c.2066C>A	c.(2065-2067)cCg>cAg	p.P689Q	CBLB_uc011bhi.2_Missense_Mutation_p.P711Q|CBLB_uc003dwd.2_Missense_Mutation_p.P689Q|CBLB_uc003dwe.2_Missense_Mutation_p.P689Q	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	689	Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						ATTTGCTAACGGACCAGTACA	0.388			Mis S		AML								T	105404299	G	T	105404299	3	4	4	1	0	0	0	0	1	0	0	0	2701	1116	39	5	906	5	CBLB	3	105404299	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3942	105404299	92618131	889	2954											
HHLA2	11148	broad.mit.edu	37	chr3	108076864	108076864	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacaattatcaatgaatccCgattctcatggaacaaagag	6	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:108076864C>T	uc003dwz.3	+	5	1273	c.859C>T	c.(859-861)Cga>Tga	p.R287*	HHLA2_uc011bhl.2_Nonsense_Mutation_p.R223*|HHLA2_uc010hpu.3_Nonsense_Mutation_p.R287*|HHLA2_uc003dwy.4_Nonsense_Mutation_p.R287*	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	287	Ig-like V-type 2.					integral to membrane		p.R287R(3)		endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						CAATGAATCCCGATTCTCATG	0.378													T	108076864	C	T	108076864	4	4	4	1	0	0	0	0	0	1	0	0	7095	644	23	1	873	1	HHLA2	3	108076864	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2672565	108076864	89945566	890	2955											
KIAA1524	57650	broad.mit.edu	37	chr3	108276166	108276166	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgctcaatatcactctgCgctctttctgattcaacttg	6	11	6	2	rs148609942		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:108276166C>T	uc003dxb.4	-	16	2378	c.2109G>A	c.(2107-2109)gcG>gcA	p.A703A		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	703						cytoplasm|integral to membrane	protein binding	p.A703V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TATCACTCTGCGCTCTTTCTG	0.408													T	108276166	C	T	108276166	2	4	4	1	0	0	0	0	0	0	0	1	8239	755	27	1		1	KIAA1524	3	108276166	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	199302	108276166	89746264	891	2956											
DPPA2	151871	broad.mit.edu	37	chr3	109023460	109023460	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatgaaactgcaggcgtAcccaaccctttgtgtctgcc	9	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:109023460A>G	uc003dxo.3	-	6	963	c.716T>C	c.(715-717)gTa>gCa	p.V239A		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	239						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGCAGGCGTACCCAACCCTT	0.512													G	109023460	A	G	109023460	3	3	4	1	0	0	0	0	1	0	0	0	4734	391	14	3	188	3	DPPA2	3	109023460	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	747294	109023460	88998970	892	2957											
PHLDB2	90102	broad.mit.edu	37	chr3	111632332	111632332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgaggaagccctcatgaGccctgacacaagatacaggt	11	10	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:111632332G>A	uc010hqa.3	+	2	1913	c.1502G>A	c.(1501-1503)aGc>aAc	p.S501N	PHLDB2_uc003dyc.3_Missense_Mutation_p.S528N|PHLDB2_uc003dyd.3_Missense_Mutation_p.S501N|PHLDB2_uc003dyg.3_Missense_Mutation_p.S501N|PHLDB2_uc003dyh.3_Missense_Mutation_p.S501N|PHLDB2_uc003dyi.3_Missense_Mutation_p.S87N|PHLDB2_uc003dyf.4_Missense_Mutation_p.S501N	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	501						cytoplasm|intermediate filament cytoskeleton|plasma membrane		p.M500I(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCCCTCATGAGCCCTGACACA	0.532													A	111632332	G	A	111632332	3	1	4	1	0	0	0	0	1	0	0	0	11852	971	34	2	1593	2	PHLDB2	3	111632332	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2608872	111632332	86390098	893	2958											
TMPRSS7	344805	broad.mit.edu	37	chr3	111799801	111799801	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttgtcgaagaaaaagtgAtggaaaatggattttgactg	11	3	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:111799801A>G	uc010hqb.2	+	15	2194	c.2024A>G	c.(2023-2025)gAt>gGt	p.D675G	TMPRSS7_uc011bhr.1_Missense_Mutation_p.D530G	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	801	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGAAAAAGTGATGGAAAATGG	0.413													G	111799801	A	G	111799801	3	3	4	1	0	0	0	0	1	0	0	0	16249	333	12	3	2082	3	TMPRSS7	3	111799801	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	167469	111799801	86222629	894	2959											
CCDC80	151887	broad.mit.edu	37	chr3	112337891	112337891	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtactctttcctcagctcgCtgatgagacgctggtctacc	9	14	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:112337891C>A	uc003dzf.3	-	3	2314	c.2096G>T	c.(2095-2097)aGc>aTc	p.S699I	CCDC80_uc011bhv.2_Missense_Mutation_p.S699I|CCDC80_uc003dzg.3_Missense_Mutation_p.S699I|CCDC80_uc003dzh.1_Missense_Mutation_p.S699I	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	699										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CCTCAGCTCGCTGATGAGACG	0.423													A	112337891	C	A	112337891	3	1	4	1	0	0	0	0	1	0	0	0	2854	797	28	5	776	5	CCDC80	3	112337891	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	538090	112337891	85684539	895	2960											
BOC	91653	broad.mit.edu	37	chr3	113005615	113005615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactggtgtccccagcaccCcgtaggggcctacgtaggac	13	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:113005615C>T	uc003dzx.3	+	19	3872	c.3251C>T	c.(3250-3252)cCc>cTc	p.P1084L	BOC_uc003dzy.3_Missense_Mutation_p.P1084L|BOC_uc003dzz.3_Missense_Mutation_p.P1085L|BOC_uc003eab.3_Missense_Mutation_p.P785L|BOC_uc003eac.3_Intron	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	1084					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CCCCAGCACCCCGTAGGGGCC	0.597													T	113005615	C	T	113005615	3	4	4	1	0	0	0	0	1	0	0	0	1481	623	22	4	3321	4	BOC	3	113005615	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	667724	113005615	85016815	896	2961											
WDR52	55779	broad.mit.edu	37	chr3	113146042	113146042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataatacctacctgtagtgCtttgcaaatcaccatactga	5	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:113146042C>T	uc003ead.2	-	2	312	c.245G>A	c.(244-246)aGc>aAc	p.S82N	WDR52_uc003eae.2_Missense_Mutation_p.S82N	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	82										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ACCTGTAGTGCTTTGCAAATC	0.353													T	113146042	C	T	113146042	3	4	4	1	0	0	0	0	1	0	0	0	17301	797	28	2	5466	2	WDR52	3	113146042	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	140427	113146042	84876388	897	2962											
KIAA2018	205717	broad.mit.edu	37	chr3	113377816	113377816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctttggattttgctgcggCcattgcaaaatgttcacttg	9	8	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:113377816C>T	uc003eam.3	-	6	3124	c.2713G>A	c.(2713-2715)Gcc>Acc	p.A905T	KIAA2018_uc003eal.3_Missense_Mutation_p.A849T	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	905					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.A905A(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TTTGCTGCGGCCATTGCAAAA	0.423													T	113377816	C	T	113377816	3	4	4	1	0	0	0	0	1	0	0	0	8268	739	26	2	4028	2	KIAA2018	3	113377816	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	231774	113377816	84644614	898	2963											
ATP6V1A	523	broad.mit.edu	37	chr3	113503074	113503074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagctgctgtttttagctgGtgtgtctgttggagatcctg	13	6	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:113503074G>A	uc003eao.3	+	3	323	c.215G>A	c.(214-216)gGt>gAt	p.G72D	ATP6V1A_uc011bik.2_Missense_Mutation_p.G39D	NM_001690	NP_001681	P38606	VATA_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA.	72					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTTTTAGCTGGTGTGTCTGTT	0.423													A	113503074	G	A	113503074	3	1	4	1	0	0	0	0	1	0	0	0	1177	1261	44	4	225	4	ATP6V1A	3	113503074	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	125258	113503074	84519356	899	2964											
ZDHHC23	254887	broad.mit.edu	37	chr3	113673204	113673204	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgaccagcccgggcatgGcactgccggatatgtggcat	15	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:113673204G>A	uc003eau.3	+	2	1118	c.819G>A	c.(817-819)tgG>tgA	p.W273*	ZDHHC23_uc003eav.3_Nonsense_Mutation_p.W267*	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	Homo sapiens zinc finger, DHHC-type containing 23 (ZDHHC23), mRNA.	273						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						CCCGGGCATGGCACTGCCGGA	0.522													A	113673204	G	A	113673204	4	1	4	1	0	0	0	0	0	1	0	0	17611	1212	42	2	825	2	ZDHHC23	3	113673204	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	170130	113673204	84349226	900	2965											
KIAA1407	57577	broad.mit.edu	37	chr3	113765535	113765535	+	Frame_Shift_Del	DEL	A	A	-													ggtaaatctgaatttctagtAaaaaatgcatttgacactgc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:113765534_113765534TA>T	uc003eax.3	-	2	322	c.175_175TA>A	c.(175-177)actfs	p.T59fs	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Intron|KIAA1407_uc011bip.1_Frame_Shift_Del_p.T46fs	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	59										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GAATTTCTAGTAAAAAATGCA	0.343													-	113765535	A	-	113765535	7	5	4	1	0	1	0	1	0	0	0	0	8229	359	13	0	2696	0	KIAA1407	3	113765535	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	92331	113765535	84256895	901	2966											
DRD3	1814	broad.mit.edu	37	chr3	113850099	113850099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctaagctgagcttgggcGctatggtgggactcagggaa	15	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:113850099G>A	uc003ebd.2	-	6	1295	c.872C>T	c.(871-873)gCg>gTg	p.A291V	DRD3_uc010hqn.1_Missense_Mutation_p.A291V|DRD3_uc003ebb.1_Intron|DRD3_uc003ebc.1_Missense_Mutation_p.A291V	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	291					G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GAGCTTGGGCGCTATGGTGGG	0.542													A	113850099	G	A	113850099	3	1	4	1	0	0	0	0	1	0	0	0	4758	1087	38	1	338	1	DRD3	3	113850099	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	84564	113850099	84172331	902	2967											
ZNF80	7634	broad.mit.edu	37	chr3	113955754	113955754	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgtttttgttaaacacGctcccacattccttgcattt	6	11	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:113955754G>A	uc010hqo.3	-	0	672	c.168C>T	c.(166-168)agC>agT	p.S56S	ZNF80_uc003ebf.3_Non-coding_Transcript	NM_007136	NP_009067	P51504	ZNF80_HUMAN	Homo sapiens zinc finger protein 80 (ZNF80), mRNA.	56						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TGTTAAACACGCTCCCACATT	0.478													A	113955754	G	A	113955754	2	1	4	1	0	0	0	0	0	0	0	1	18165	1078	38	1		1	ZNF80	3	113955754	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	105655	113955754	84066676	903	2968											
B4GALT4	8702	broad.mit.edu	37	chr3	118937520	118937520	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctgaggtcatcgtcttcGcctccccatccccagtagtt	8	15	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:118937520G>A	uc003ecg.3	-	5	1415	c.774C>T	c.(772-774)ggC>ggT	p.G258G	B4GALT4_uc003ece.1_Silent_p.G258G|B4GALT4_uc003ech.3_Silent_p.G258G|B4GALT4_uc003eci.3_Silent_p.G258G|B4GALT4_uc011biy.1_Intron	NM_212543	NP_997708	O60513	B4GT4_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 (B4GALT4), transcript variant 1, mRNA.	258					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|metal ion binding	p.G258G(2)		breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CATCGTCTTCGCCTCCCCATC	0.488													A	118937520	G	A	118937520	2	1	4	1	0	0	0	0	0	0	0	1	1273	1074	38	1		1	B4GALT4	3	118937520	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4981766	118937520	79084910	904	2969											
POPDC2	64091	broad.mit.edu	37	chr3	119379244	119379244	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccctgcaagagaagctgGcccactctgctgctgttggc	12	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:119379244G>A	uc003ecx.1	-	0	161	c.27C>T	c.(25-27)ggC>ggT	p.G9G	POPDC2_uc010hqw.1_Silent_p.G9G|POPDC2_uc003ecy.1_Intron	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN	Homo sapiens popeye domain containing 2 (POPDC2), mRNA.	9						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		AGAGAAGCTGGCCCACTCTGC	0.527													A	119379244	G	A	119379244	2	1	4	1	0	0	0	0	0	0	0	1	12255	1190	42	2		2	POPDC2	3	119379244	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	441724	119379244	78643186	905	2970											
C3orf15	89876	broad.mit.edu	37	chr3	119434422	119434422	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttagggcagaaccatacActtttcctcctacttctact	4	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:119434422A>G	uc003ede.4	+	5	591	c.514A>G	c.(514-516)Act>Gct	p.T172A	C3orf15_uc003edc.2_Missense_Mutation_p.T172A|C3orf15_uc010hqy.2_Missense_Mutation_p.T172A|C3orf15_uc010hqz.3_Missense_Mutation_p.T110A|C3orf15_uc011bjd.2_Missense_Mutation_p.T46A|C3orf15_uc011bje.2_Missense_Mutation_p.T152A|C3orf15_uc010hra.2_5'UTR	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	172						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		AGAACCATACACTTTTCCTCC	0.368													G	119434422	A	G	119434422	3	3	4	1	0	0	0	0	1	0	0	0	2209	159	6	3	536	3	C3orf15	3	119434422	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	55178	119434422	78588008	906	2971											
STXBP5L	9515	broad.mit.edu	37	chr3	120957879	120957879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcaccagttacatgcacaGcatactttgcagattgtcct	6	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:120957879G>A	uc003eec.4	+	12	1386	c.1246G>A	c.(1246-1248)Gca>Aca	p.A416T	STXBP5L_uc011bji.2_Missense_Mutation_p.A416T	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	416					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TACATGCACAGCATACTTTGC	0.318													A	120957879	G	A	120957879	3	1	4	1	0	0	0	0	1	0	0	0	15356	971	34	2	1292	2	STXBP5L	3	120957879	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1523457	120957879	77064551	907	2972											
POLQ	10721	broad.mit.edu	37	chr3	121228903	121228903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccttctgttccatcactgGcttctgtactctggatgaat	7	11	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:121228903G>A	uc003eee.4	-	10	1928	c.1799C>T	c.(1798-1800)gCc>gTc	p.A600V		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	600					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCATCACTGGCTTCTGTACT	0.413								DNA polymerases (catalytic subunits)					A	121228903	G	A	121228903	3	1	4	1	0	0	0	0	1	0	0	0	12208	1203	42	2	6053	2	POLQ	3	121228903	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	271024	121228903	76793527	908	2973											
GOLGB1	2804	broad.mit.edu	37	chr3	121414107	121414107	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacctcttcacttagagagtCtttctcagacattaaagact	5	10	4	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:121414107C>T	uc010hrc.3	-	12	5389	c.5263G>A	c.(5263-5265)Gac>Aac	p.D1755N	GOLGB1_uc003eei.4_Missense_Mutation_p.D1750N|GOLGB1_uc003eej.4_Missense_Mutation_p.D1716N|GOLGB1_uc021xcy.1_Missense_Mutation_p.D1675N|GOLGB1_uc011bjm.1_Missense_Mutation_p.D1636N|GOLGB1_uc010hrd.1_Missense_Mutation_p.D1714N	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1750					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.E1755Q(1)|p.E1755A(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTTAGAGAGTCTTTCTCAGAC	0.378													T	121414107	C	T	121414107	3	4	4	1	0	0	0	0	1	0	0	0	6565	913	32	4	4571	4	GOLGB1	3	121414107	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	185204	121414107	76608323	909	2974											
GOLGB1	2804	broad.mit.edu	37	chr3	121417211	121417211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaggttgctaatttccttaGctttctcatctaaatttttc	4	8	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:121417211G>A	uc010hrc.3	-	12	2285	c.2159C>T	c.(2158-2160)gCt>gTt	p.A720V	GOLGB1_uc003eei.4_Missense_Mutation_p.A715V|GOLGB1_uc003eej.4_Missense_Mutation_p.A681V|GOLGB1_uc021xcy.1_Missense_Mutation_p.A640V|GOLGB1_uc011bjm.1_Missense_Mutation_p.A601V|GOLGB1_uc010hrd.1_Missense_Mutation_p.A679V	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	715					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AATTTCCTTAGCTTTCTCATC	0.363													A	121417211	G	A	121417211	3	1	4	1	0	0	0	0	1	0	0	0	6565	971	34	2	7675	2	GOLGB1	3	121417211	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3104	121417211	76605219	910	2975											
CASR	846	broad.mit.edu	37	chr3	122002869	122002869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttggcatcagcttcgtgCtctgcatctcatgcatcctg	8	14	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:122002869C>T	uc003eew.4	+	6	2536	c.2098C>T	c.(2098-2100)Ctc>Ttc	p.L700F	CASR_uc003eev.4_Missense_Mutation_p.L690F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	690					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.N700K(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAGCTTCGTGCTCTGCATCTC	0.617													T	122002869	C	T	122002869	3	4	4	1	0	0	0	0	1	0	0	0	2682	797	28	2	2120	2	CASR	3	122002869	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	585658	122002869	76019561	911	2976											
PARP14	54625	broad.mit.edu	37	chr3	122418640	122418640	+	Frame_Shift_Del	DEL	A	A	-													ccaacaatgtgggacaccatAaaaaatgatgtgaaagatga							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:122418639_122418639TA>T	uc003efq.4	+	5	1297	c.1238_1238TA>T	c.(1237-1239)atafs	p.I413fs	PARP14_uc021xdc.1_Frame_Shift_Del_p.I277fs|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Frame_Shift_Del_p.I130fs|PARP14_uc003efs.1_Frame_Shift_Del_p.I130fs	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGGGACACCATAAAAAATGAT	0.393													-	122418640	A	-	122418640	7	5	4	1	0	1	0	1	0	0	0	0	11458	352	13	0	1261	0	PARP14	3	122418640	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	415771	122418640	75603790	912	2977											
ADCY5	111	broad.mit.edu	37	chr3	123046535	123046535	+	Frame_Shift_Del	DEL	C	C	-													tgaggtaggcgttgcgctcgCccccacagcctggctccacc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:123046534_123046534GC>G	uc003egh.2	-	6	1878	c.1878_1878GC>C	c.(1876-1878)ggcfs	p.G626fs	ADCY5_uc021xdd.1_Frame_Shift_Del_p.G276fs|ADCY5_uc003egg.2_Frame_Shift_Del_p.G259fs|ADCY5_uc003egi.1_Frame_Shift_Del_p.G185fs	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	626					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding	p.G626G(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CGTTGCGCTCGCCCCCACAGC	0.642													-	123046535	C	-	123046535	7	5	4	1	0	1	0	1	0	0	0	0	297	739	26	0	1968	0	ADCY5	3	123046535	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	627895	123046535	74975895	913	2978											
MYLK	4638	broad.mit.edu	37	chr3	123368044	123368044	+	Splice_Site	DEL	G	G	-													ccacttcatccttcggctctGgggggggcacaaggaaggac					rs138786404		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:123368043_123368043TG>T	uc003ego.3	-	25	4571	c.4289_splice	c.e25-1	p.E1430_splice	MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.E230_splice|MYLK_uc011bjw.2_Splice_Site_p.E1430_splice|MYLK_uc003egp.3_Splice_Site_p.E1361_splice|MYLK_uc003egq.3_Splice_Site_p.E1430_splice|MYLK_uc003egr.3_Splice_Site_p.E1361_splice|MYLK_uc003egs.3_Splice_Site_p.E1254_splice	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1430	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCA	0.622													-	123368044	G	-	123368044	8	5	4	1	0	1	0	1	0	0	1	0	10056	1363	47	0		0	MYLK	3	123368044	Splice_Site	DEL	G	TCGA-BR-4184-01A-01D-1126-08	321509	123368044	74654386	914	2979											
MYLK	4638	broad.mit.edu	37	chr3	123471267	123471267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtcctcctcatggacaGcatgaatcacaaggctgaaa	8	13	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:123471267G>A	uc003ego.3	-	4	566	c.284C>T	c.(283-285)gCt>gTt	p.A95V	MYLK_uc011bjw.2_Missense_Mutation_p.A95V|MYLK_uc003egp.3_Missense_Mutation_p.A95V|MYLK_uc003egq.3_Missense_Mutation_p.A95V|MYLK_uc003egr.3_Missense_Mutation_p.A95V|MYLK_uc003egs.3_Intron|MYLK_uc010hrs.1_Missense_Mutation_p.A95V|MYLK_uc003egu.1_Missense_Mutation_p.A105V	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	95	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.A95D(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTCATGGACAGCATGAATCAC	0.587													A	123471267	G	A	123471267	3	1	4	1	0	0	0	0	1	0	0	0	10056	971	34	2	5580	2	MYLK	3	123471267	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	103223	123471267	74551163	915	2980											
CCDC14	64770	broad.mit.edu	37	chr3	123633803	123633803	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccatcacagacagtattGcctttcacttgaaggctgtt	7	11	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:123633803G>A	uc011bjx.2	-	12	2776	c.2685C>T	c.(2683-2685)ggC>ggT	p.G895G	CCDC14_uc003egv.4_Silent_p.G536G|CCDC14_uc003egx.4_Silent_p.G695G|CCDC14_uc010hrt.3_Silent_p.G854G|CCDC14_uc003egy.4_Silent_p.G695G|CCDC14_uc003egz.2_3'UTR	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	Homo sapiens coiled-coil domain containing 14 (CCDC14), mRNA.	895						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		AGACAGTATTGCCTTTCACTT	0.458													A	123633803	G	A	123633803	2	1	4	1	0	0	0	0	0	0	0	1	2773	1306	46	2		2	CCDC14	3	123633803	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	162536	123633803	74388627	916	2981											
CCDC37	348807	broad.mit.edu	37	chr3	126153218	126153218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaaggagaaggagcggcGcatcaggtgagctctaggct	17	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:126153218G>A	uc010hsg.1	+	13	1684	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	CCDC37_uc003eiu.1_Missense_Mutation_p.R541H	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	541										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AAGGAGCGGCGCATCAGGTGA	0.622													A	126153218	G	A	126153218	3	1	4	1	0	0	0	0	1	0	0	0	2809	1087	38	1	1676	1	CCDC37	3	126153218	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2519415	126153218	71869212	917	2982											
PLXNA1	5361	broad.mit.edu	37	chr3	126708525	126708525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcctgttcacgctcagGgccatcaaggagaagattaa	11	10	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:126708525G>A	uc003ejg.3	+	0	1089	c.1089G>A	c.(1087-1089)agG>agA	p.R363R		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	363	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCACGCTCAGGGCCATCAAGG	0.597													A	126708525	G	A	126708525	2	1	4	1	0	0	0	0	0	0	0	1	12119	1223	43	4		4	PLXNA1	3	126708525	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	555307	126708525	71313905	918	2983											
PLXNA1	5361	broad.mit.edu	37	chr3	126733356	126733356	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgaggcagggcggcacGcggctcactatcacaggcga	16	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:126733356G>A	uc003ejg.3	+	11	2640	c.2640G>A	c.(2638-2640)acG>acA	p.T880T		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	880	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGGGCGGCACGCGGCTCACTA	0.692													A	126733356	G	A	126733356	2	1	4	1	0	0	0	0	0	0	0	1	12119	1074	38	1		1	PLXNA1	3	126733356	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	24831	126733356	71289074	919	2984											
PLXNA1	5361	broad.mit.edu	37	chr3	126733466	126733466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagcgagtacatcagtgCggagcagtgagtgcagccct	16	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:126733466C>T	uc003ejg.3	+	11	2750	c.2750C>T	c.(2749-2751)gCg>gTg	p.A917V		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	917	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TACATCAGTGCGGAGCAGTGA	0.687													T	126733466	C	T	126733466	3	4	4	1	0	0	0	0	1	0	0	0	12119	768	27	1	2796	1	PLXNA1	3	126733466	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	110	126733466	71288964	920	2985											
PLXNA1	5361	broad.mit.edu	37	chr3	126733645	126733645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgctcaccacactaccgcGccctgtcacccaagcgcttc	6	20	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:126733645G>A	uc003ejg.3	+	12	2848	c.2848G>A	c.(2848-2850)Gcc>Acc	p.A950T		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	950	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACACTACCGCGCCCTGTCACC	0.642													A	126733645	G	A	126733645	3	1	4	1	0	0	0	0	1	0	0	0	12119	1087	38	1	2898	1	PLXNA1	3	126733645	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	179	126733645	71288785	921	2986											
MCM2	4171	broad.mit.edu	37	chr3	127323952	127323952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgcactcacgtcgacaGccacggccacaacgtcttca	8	18	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:127323952G>A	uc003ejp.3	+	3	683	c.626G>A	c.(625-627)aGc>aAc	p.S209N	MCM2_uc011bkm.2_Missense_Mutation_p.S79N|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Missense_Mutation_p.S93N	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	209	Interaction with MYST2 (By similarity).				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CACGTCGACAGCCACGGCCAC	0.627													A	127323952	G	A	127323952	3	1	4	1	0	0	0	0	1	0	0	0	9386	971	34	2	640	2	MCM2	3	127323952	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	590307	127323952	70698478	922	2987											
MCM2	4171	broad.mit.edu	37	chr3	127340010	127340010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcaggtgacatatcagcGcaaccgctttggggcccagc	13	12	1	2	rs137990158		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:127340010G>A	uc003ejp.3	+	14	2600	c.2543G>A	c.(2542-2544)cGc>cAc	p.R848H	MCM2_uc011bkm.2_Missense_Mutation_p.R718H|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Missense_Mutation_p.R801H	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	848					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						ACATATCAGCGCAACCGCTTT	0.547													A	127340010	G	A	127340010	3	1	4	1	0	0	0	0	1	0	0	0	9386	1087	38	1	2601	1	MCM2	3	127340010	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	16058	127340010	70682420	923	2988											
ABTB1	80325	broad.mit.edu	37	chr3	127396374	127396374	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccctgacatctgcttcCgagtggctggctgcagcttc	12	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:127396374C>T	uc003ejt.3	+	8	917	c.829C>T	c.(829-831)Cga>Tga	p.R277*	ABTB1_uc003ejr.3_Nonsense_Mutation_p.R135*|ABTB1_uc003ejs.3_Nonsense_Mutation_p.R252*|ABTB1_uc003eju.3_Nonsense_Mutation_p.R135*|ABTB1_uc010hsm.3_Intron	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 1 (ABTB1), transcript variant 2, mRNA.	277	BTB 2.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	p.F276F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CATCTGCTTCCGAGTGGCTGG	0.632													T	127396374	C	T	127396374	4	4	4	1	0	0	0	0	0	1	0	0	102	644	23	1	863	1	ABTB1	3	127396374	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	56364	127396374	70626056	924	2989											
KBTBD12	166348	broad.mit.edu	37	chr3	127646815	127646815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccttccactgcaattgGcatgtcatgctgtagtgaca	8	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:127646815G>A	uc010hsr.3	+	1	1282	c.1279G>A	c.(1279-1281)Gca>Aca	p.A427T	KBTBD12_uc003ejy.4_Missense_Mutation_p.A34T|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Intron|KBTBD12_uc003ejz.2_Missense_Mutation_p.A427T	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	427										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						ACTGCAATTGGCATGTCATGC	0.383													A	127646815	G	A	127646815	3	1	4	1	0	0	0	0	1	0	0	0	7991	1203	42	2	1285	2	KBTBD12	3	127646815	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	250441	127646815	70375615	925	2990											
IFT122	55764	broad.mit.edu	37	chr3	129238561	129238561	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgcctccattaccatgtgcCcctcctgcttccaggtaggt	8	16	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:129238561C>A	uc003eml.3	+	29	3981	c.3775C>A	c.(3775-3777)Ccc>Acc	p.P1259T	IFT122_uc003emm.3_Missense_Mutation_p.P1208T|IFT122_uc003emn.3_Missense_Mutation_p.P1149T|IFT122_uc003emo.3_Missense_Mutation_p.P1098T|IFT122_uc003emp.3_Missense_Mutation_p.P1058T|IFT122_uc010htc.3_Missense_Mutation_p.P1201T|IFT122_uc011bky.2_Missense_Mutation_p.P999T|IFT122_uc011bla.2_Missense_Mutation_p.P982T|IFT122_uc003emr.3_Missense_Mutation_p.P961T|IFT122_uc010hte.3_Missense_Mutation_p.P534T|IFT122_uc003ems.3_Missense_Mutation_p.P590T	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	1208					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TACCATGTGCCCCTCCTGCTT	0.617													A	129238561	C	A	129238561	3	1	4	1	0	0	0	0	1	0	0	0	7555	623	22	5	3896	5	IFT122	3	129238561	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1591746	129238561	68783869	926	2991											
ATP2C1	27032	broad.mit.edu	37	chr3	130716497	130716497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcattcgtaaacctcctcGcaactggaaagacagcattt	7	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:130716497G>A	uc011bli.2	+	23	2689	c.2393G>A	c.(2392-2394)cGc>cAc	p.R798H	ATP2C1_uc011blg.2_Missense_Mutation_p.R798H|ATP2C1_uc011blh.2_Missense_Mutation_p.R759H|ATP2C1_uc003enk.3_Missense_Mutation_p.R748H|ATP2C1_uc003enl.3_Missense_Mutation_p.R764H|ATP2C1_uc003enm.3_Missense_Mutation_p.R764H|ATP2C1_uc003enn.3_Missense_Mutation_p.R748H|ATP2C1_uc003eno.3_Missense_Mutation_p.R764H|ATP2C1_uc003enp.3_Missense_Mutation_p.R764H|ATP2C1_uc003ent.3_Missense_Mutation_p.R764H|ATP2C1_uc003ens.3_Missense_Mutation_p.R764H|ATP2C1_uc003enu.3_Missense_Mutation_p.R442H	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	764					ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	AAACCTCCTCGCAACTGGAAA	0.343									Hailey-Hailey disease				A	130716497	G	A	130716497	3	1	4	1	0	0	0	0	1	0	0	0	1143	1087	38	1	2385	1	ATP2C1	3	130716497	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1477936	130716497	67305933	927	2992											
DNAJC13	23317	broad.mit.edu	37	chr3	132207227	132207227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agataacccacagttaccccGcctttatctgagtggagtat	8	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:132207227G>A	uc003eor.3	+	29	3418	c.3353G>A	c.(3352-3354)cGc>cAc	p.R1118H		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	1118							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CAGTTACCCCGCCTTTATCTG	0.373													A	132207227	G	A	132207227	3	1	4	1	0	0	0	0	1	0	0	0	4632	1087	38	1	3467	1	DNAJC13	3	132207227	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1490730	132207227	65815203	928	2993											
NPHP3	27031	broad.mit.edu	37	chr3	132403466	132403466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtgatcaggagctaatgCacgtctccgaatatctaaag	11	8	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:132403466C>T	uc003epe.2	-	23	3606	c.3502G>A	c.(3502-3504)Gca>Aca	p.A1168T	NPHP3_uc003eoz.1_Missense_Mutation_p.A47T|NPHP3_uc003epd.2_Missense_Mutation_p.A410T	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	1168					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGAGCTAATGCACGTCTCCGA	0.368													T	132403466	C	T	132403466	3	4	4	1	0	0	0	0	1	0	0	0	10580	710	25	2	506	2	NPHP3	3	132403466	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	196239	132403466	65618964	929	2994											
NPHP3	27031	broad.mit.edu	37	chr3	132407734	132407734	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctctgcaaaggtactatgGcctggggggaaaaggggtga	16	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:132407734G>A	uc003epe.2	-	21	2988	c.2884_splice	c.e21-1	p.A962_splice	NPHP3_uc003epd.2_Splice_Site_p.A204_splice	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	962					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGTACTATGGCCTGGGGGGA	0.433													A	132407734	G	A	132407734	5	1	4	1	0	0	0	0	0	0	1	0	10580	1217	42	2	1135	2	NPHP3	3	132407734	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4268	132407734	65614696	930	2995											
TOPBP1	11073	broad.mit.edu	37	chr3	133347516	133347516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caataacttctgagagtggcGtactcggtttccttttctgt	9	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:133347516G>A	uc003eps.3	-	14	2714	c.2582C>T	c.(2581-2583)aCg>aTg	p.T861M	TOPBP1_uc003ept.1_5'Flank	NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	861					DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TGAGAGTGGCGTACTCGGTTT	0.473								Other conserved DNA damage response genes					A	133347516	G	A	133347516	3	1	4	1	0	0	0	0	1	0	0	0	16366	1145	40	1	2042	1	TOPBP1	3	133347516	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	939782	133347516	64674914	931	2996											
TOPBP1	11073	broad.mit.edu	37	chr3	133375669	133375669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtctctgtatactcgtccGcccatcatttgtacatattt	6	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:133375669G>A	uc003eps.3	-	4	528	c.396C>T	c.(394-396)ggC>ggT	p.G132G		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	132	BRCT 1.				DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ATACTCGTCCGCCCATCATTT	0.373								Other conserved DNA damage response genes					A	133375669	G	A	133375669	2	1	4	1	0	0	0	0	0	0	0	1	16366	1074	38	1		1	TOPBP1	3	133375669	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	28153	133375669	64646761	932	2997											
RAB6B	51560	broad.mit.edu	37	chr3	133557073	133557073	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacgctcagttctttggcGcgctgctccccctcctcgat	9	16	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:133557073G>A	uc003epy.3	-	5	813	c.432C>T	c.(430-432)cgC>cgT	p.R144R	RAB6B_uc011blu.1_Silent_p.R131R	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN	Homo sapiens RAB6B, member RAS oncogene family (RAB6B), mRNA.	144					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	Golgi membrane|cytoplasmic membrane-bounded vesicle	GTP binding|GTPase activity|protein binding	p.R144H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						GTTCTTTGGCGCGCTGCTCCC	0.602													A	133557073	G	A	133557073	2	1	4	1	0	0	0	0	0	0	0	1	12952	1074	38	1		1	RAB6B	3	133557073	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	181404	133557073	64465357	933	2998											
AMOTL2	51421	broad.mit.edu	37	chr3	134090186	134090186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctggatggctagcagCgtgcgcgtctcagtcaggtt	15	10	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:134090186C>T	uc003eqf.2	-	1	381	c.264G>A	c.(262-264)acG>acA	p.T88T	AMOTL2_uc003eqg.1_Silent_p.T30T|AMOTL2_uc003eqh.1_Silent_p.T30T	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	30										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TGGCTAGCAGCGTGCGCGTCT	0.657													T	134090186	C	T	134090186	2	4	4	1	0	0	0	0	0	0	0	1	584	755	27	1		1	AMOTL2	3	134090186	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	533113	134090186	63932244	934	2999											
STAG1	10274	broad.mit.edu	37	chr3	136287655	136287655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgattaaatccagaagtgCgatgtccctgtcttgtttat	9	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:136287655C>T	uc003era.1	-	4	638	c.346G>A	c.(346-348)Gca>Aca	p.A116T	STAG1_uc003erb.1_Missense_Mutation_p.A116T|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003ere.3_Missense_Mutation_p.A116T	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	116					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.A116T(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TCCAGAAGTGCGATGTCCCTG	0.348													T	136287655	C	T	136287655	3	4	4	1	0	0	0	0	1	0	0	0	15241	768	27	1	3550	1	STAG1	3	136287655	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2197469	136287655	61734775	935	3000											
IL20RB	53833	broad.mit.edu	37	chr3	136677037	136677037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcattgattccatgtttgCtcacaggtaagtatgaatta	8	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:136677037C>T	uc003eri.2	+	0	331	c.82C>T	c.(82-84)Ctc>Ttc	p.L28F	IL20RB_uc003erj.2_Non-coding_Transcript	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	Homo sapiens interleukin 20 receptor beta (IL20RB), mRNA.	28						integral to membrane	receptor activity	p.L27L(1)		kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						TCCATGTTTGCTCACAGGTAA	0.383													T	136677037	C	T	136677037	3	4	4	1	0	0	0	0	1	0	0	0	7669	797	28	2	84	2	IL20RB	3	136677037	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	389382	136677037	61345393	936	3001											
PIK3CB	5291	broad.mit.edu	37	chr3	138433482	138433482	+	Frame_Shift_Del	DEL	T	T	-													gttcattccaaatatgatcaTttttccctgatacctctgag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:138433481_138433481AT>A	uc011bmq.2	-	6	1131	c.1131_1131AT>T	c.(1129-1131)aatfs	p.N377fs	PIK3CB_uc011bmo.2_5'UTR|PIK3CB_uc011bmp.2_5'UTR	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	377	C2 PI3K-type.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AAATATGATCATTTTTCCCTG	0.378													-	138433482	T	-	138433482	7	5	4	1	0	1	0	1	0	0	0	0	11914	1493	52	0	2144	0	PIK3CB	3	138433482	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	1756445	138433482	59588948	937	3002											
MRPS22	56945	broad.mit.edu	37	chr3	139074577	139074577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacgtgctccatccagatgGccagtcggctcaaggggcca	12	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:139074577G>A	uc003etb.3	+	6	1003	c.932G>A	c.(931-933)gGc>gAc	p.G311D	MRPS22_uc003etc.3_Non-coding_Transcript	NM_020191	NP_064576	P82650	RT22_HUMAN	Homo sapiens mitochondrial ribosomal protein S22 (MRPS22), nuclear gene encoding mitochondrial protein, mRNA.	311						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						CATCCAGATGGCCAGTCGGCT	0.418													A	139074577	G	A	139074577	3	1	4	1	0	0	0	0	1	0	0	0	9833	1203	42	2	958	2	MRPS22	3	139074577	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	641095	139074577	58947853	938	3003											
COPB2	9276	broad.mit.edu	37	chr3	139080062	139080062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccataatcctgtgcatgatGcaggcactcctgggctaggc	11	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:139080062G>A	uc003etf.4	-	16	2201	c.2071C>T	c.(2071-2073)Cat>Tat	p.H691Y	COPB2_uc011bmv.2_Missense_Mutation_p.H662Y|COPB2_uc010hui.3_Missense_Mutation_p.H662Y	NM_004766	NP_004757	P35606	COPB2_HUMAN	Homo sapiens coatomer protein complex, subunit beta 2 (beta prime) (COPB2), transcript variant 1, mRNA.	691					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TGTGCATGATGCAGGCACTCC	0.478													A	139080062	G	A	139080062	3	1	4	1	0	0	0	0	1	0	0	0	3729	1319	46	2	673	2	COPB2	3	139080062	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5485	139080062	58942368	939	3004											
CLSTN2	64084	broad.mit.edu	37	chr3	140167437	140167437	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatccacctggagacgtgCgatggagccgtgtcttccct	12	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:140167437C>T	uc003etn.3	+	5	1054	c.864C>T	c.(862-864)tgC>tgT	p.C288C	CLSTN2_uc003etm.2_Silent_p.C288C	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	288					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGGAGACGTGCGATGGAGCCG	0.532										HNSCC(16;0.037)			T	140167437	C	T	140167437	2	4	4	1	0	0	0	0	0	0	0	1	3562	776	27	1		1	CLSTN2	3	140167437	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1087375	140167437	57854993	940	3005											
TRIM42	287015	broad.mit.edu	37	chr3	140401502	140401502	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagcacgccgaggtcacCgagaacttcttcatcctcat	8	14	4	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:140401502C>T	uc003eto.2	+	1	746	c.540C>T	c.(538-540)acC>acT	p.T180T		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	180						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGAGGTCACCGAGAACTTCT	0.622													T	140401502	C	T	140401502	2	4	4	1	0	0	0	0	0	0	0	1	16514	639	23	1		1	TRIM42	3	140401502	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	234065	140401502	57620928	941	3006											
RASA2	5922	broad.mit.edu	37	chr3	141231095	141231095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccaggaagaagtttatcGtacccaagttgtggaaaaat	11	6	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:141231095G>A	uc010huq.1	+	1	224	c.224G>A	c.(223-225)cGt>cAt	p.R75H	RASA2_uc003etz.1_Missense_Mutation_p.R75H|RASA2_uc003eua.1_Missense_Mutation_p.R75H	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	75	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding	p.R75H(2)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GAAGTTTATCGTACCCAAGTT	0.308													A	141231095	G	A	141231095	3	1	4	1	0	0	0	0	1	0	0	0	13061	1145	40	1	230	1	RASA2	3	141231095	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	829593	141231095	56791335	942	3007											
ATR	545	broad.mit.edu	37	chr3	142266699	142266699	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcaataattcattatgCaatccttggaaatcttgtct	6	9	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:142266699C>T	uc003eux.4	-	15	3347	c.3225G>A	c.(3223-3225)ttG>ttA	p.L1075L		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1075					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATTCATTATGCAATCCTTGGA	0.343								Other conserved DNA damage response genes					T	142266699	C	T	142266699	2	4	4	1	0	0	0	0	0	0	0	1	1204	709	25	2		2	ATR	3	142266699	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1035604	142266699	55755731	943	3008											
AGTR1	185	broad.mit.edu	37	chr3	148458931	148458931	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattcctactttatacagtAtcatctttgtggtgggaata	8	6	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:148458931A>G	uc003ewg.3	+	3	555	c.109A>G	c.(109-111)Atc>Gtc	p.I37V	AGTR1_uc003ewh.3_Missense_Mutation_p.I37V|AGTR1_uc003ewi.3_Missense_Mutation_p.I37V|AGTR1_uc003ewj.3_Missense_Mutation_p.I37V|AGTR1_uc003ewk.3_Missense_Mutation_p.I37V|AGTR1_uc021xfj.1_Missense_Mutation_p.I37V	NM_031850	NP_114438	P30556	AGTR1_HUMAN	Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA.	37					Rho protein signal transduction|calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of NAD(P)H oxidase activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	p.I37I(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TTTATACAGTATCATCTTTGT	0.348													G	148458931	A	G	148458931	3	3	4	1	0	0	0	0	1	0	0	0	401	449	16	3	111	3	AGTR1	3	148458931	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	6192232	148458931	49563499	944	3009											
CPB1	1360	broad.mit.edu	37	chr3	148558742	148558742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggaaccacatttgagggaCgcgctatttacctcctgaag	10	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:148558742C>T	uc003ewl.3	+	4	477	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	152					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.R152C(2)|p.G151V(1)|p.R152H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ATTTGAGGGACGCGCTATTTA	0.428													T	148558742	C	T	148558742	3	4	4	1	0	0	0	0	1	0	0	0	3796	536	19	1	472	1	CPB1	3	148558742	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	99811	148558742	49463688	945	3010											
GYG1	2992	broad.mit.edu	37	chr3	148741973	148741973	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcatccagagtttctcatcCtgtggtggaacatctttacc	7	12	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:148741973C>A	uc003ewn.3	+	5	975	c.742C>A	c.(742-744)Ctg>Atg	p.L248M	GYG1_uc011bnp.2_3'UTR|GYG1_uc003ewo.3_Missense_Mutation_p.L248M|GYG1_uc003ewp.3_Intron	NM_004130	NP_004121	P46976	GLYG_HUMAN	Homo sapiens glycogenin 1 (GYG1), transcript variant 1, mRNA.	248					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTTTCTCATCCTGTGGTGGAA	0.423													A	148741973	C	A	148741973	3	1	4	1	0	0	0	0	1	0	0	0	6905	680	24	5	764	5	GYG1	3	148741973	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	183231	148741973	49280457	946	3011											
HLTF	6596	broad.mit.edu	37	chr3	148781227	148781227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatagtttaccttttggggCgggagctagacaattctgac	11	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:148781227C>T	uc003ewq.1	-	9	1369	c.1151G>A	c.(1150-1152)cGc>cAc	p.R384H	HLTF_uc003ewr.1_Missense_Mutation_p.R384H|HLTF_uc003ews.1_Missense_Mutation_p.R384H|HLTF_uc010hve.1_Missense_Mutation_p.R384H	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	384					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.R384S(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CCTTTTGGGGCGGGAGCTAGA	0.383													T	148781227	C	T	148781227	3	4	4	1	0	0	0	0	1	0	0	0	7215	768	27	1	1942	1	HLTF	3	148781227	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	39254	148781227	49241203	947	3012											
CP	1356	broad.mit.edu	37	chr3	148904520	148904520	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacatgaatccattcatggCtgtaaaagttgggaaataac	8	6	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:148904520C>T	uc003ewy.4	-	11	2118	c.1865_splice	c.e11-1	p.S622_splice	CP_uc011bnr.2_Intron|CP_uc003ewx.4_Splice_Site_p.S403_splice|CP_uc003ewz.3_Splice_Site_p.S622_splice|CP_uc010hvf.1_Intron	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	622	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCATTCATGGCTGTAAAAGTT	0.408													T	148904520	C	T	148904520	5	4	4	1	0	0	0	0	0	0	1	0	3787	811	28	2	1369	2	CP	3	148904520	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	123293	148904520	49117910	948	3013											
PFN2	5217	broad.mit.edu	37	chr3	149684317	149684317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtattttgccattgagtatgCcttcttattcaatccgcctc	6	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:149684317C>T	uc003ext.1	-	2	480	c.382G>A	c.(382-384)Gca>Aca	p.A128T	PFN2_uc003exu.1_Intron|PFN2_uc011bnu.1_Intron	NM_053024	NP_444252	P35080	PROF2_HUMAN	Homo sapiens profilin 2 (PFN2), transcript variant 1, mRNA.	128					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ATTGAGTATGCCTTCTTATTC	0.388													T	149684317	C	T	149684317	3	4	4	1	0	0	0	0	1	0	0	0	11768	739	26	2	146	2	PFN2	3	149684317	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	779797	149684317	48338113	949	3014											
SIAH2	6478	broad.mit.edu	37	chr3	150460413	150460413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgggcaggagtagggacGgtattcacatatgtcttcat	12	7	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:150460413G>A	uc003eyi.3	-	1	1117	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C		NM_005067	NP_005058	O43255	SIAH2_HUMAN	Homo sapiens seven in absentia homolog 2 (Drosophila) (SIAH2), mRNA.	164	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GAGTAGGGACGGTATTCACAT	0.532													A	150460413	G	A	150460413	3	1	4	1	0	0	0	0	1	0	0	0	14300	1116	39	1	488	1	SIAH2	3	150460413	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	776096	150460413	47562017	950	3015											
MED12L	116931	broad.mit.edu	37	chr3	150877785	150877785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcggggcccccagccctgGcccccccggccctggcatga	12	20	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:150877785G>A	uc003eyp.3	+	6	1133	c.1004G>A	c.(1003-1005)gGc>gAc	p.G335D	MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Missense_Mutation_p.G335D|MED12L_uc003eyo.3_Missense_Mutation_p.G335D	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	335					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCCAGCCCTGGCCCCCCCGGC	0.582													A	150877785	G	A	150877785	3	1	4	1	0	0	0	0	1	0	0	0	9429	1203	42	2	1030	2	MED12L	3	150877785	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	417372	150877785	47144645	951	3016											
IGSF10	285313	broad.mit.edu	37	chr3	151176330	151176330	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgcgttccacattgggCgggatgctgtctgggatgga	16	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:151176330C>T	uc011bod.2	-	0	168	c.168G>A	c.(166-168)ccG>ccA	p.P56P		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	56	LRRNT.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCACATTGGGCGGGATGCTGT	0.537													T	151176330	C	T	151176330	2	4	4	1	0	0	0	0	0	0	0	1	7597	755	27	1		1	IGSF10	3	151176330	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	298545	151176330	46846100	952	3017											
DHX36	170506	broad.mit.edu	37	chr3	154022736	154022736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatggatttcatcaagtaCgatatgactaacactggaca	7	8	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:154022736C>T	uc003ezy.4	-	7	1075	c.994G>A	c.(994-996)Gta>Ata	p.V332I	DHX36_uc010hvq.3_Missense_Mutation_p.V332I|DHX36_uc003ezz.4_Missense_Mutation_p.V332I	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	332	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCATCAAGTACGATATGACTA	0.294													T	154022736	C	T	154022736	3	4	4	1	0	0	0	0	1	0	0	0	4509	536	19	1	2104	1	DHX36	3	154022736	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2846406	154022736	43999694	953	3018											
GPR149	344758	broad.mit.edu	37	chr3	154055676	154055676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaaagagggagtatgaggCtgtttcccctaggtcacatg	12	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:154055676C>T	uc003faa.3	-	3	2108	c.2008G>A	c.(2008-2010)Gcc>Acc	p.A670T		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	670						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GAGTATGAGGCTGTTTCCCCT	0.438													T	154055676	C	T	154055676	3	4	4	1	0	0	0	0	1	0	0	0	6654	797	28	2	191	2	GPR149	3	154055676	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	32940	154055676	43966754	954	3019											
PLCH1	23007	broad.mit.edu	37	chr3	155203197	155203197	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtttcagatacaggcagCgacaaagctcccagaaggtt	11	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:155203197C>T	uc021xge.1	-	21	3223	c.2946G>A	c.(2944-2946)tcG>tcA	p.S982S	PLCH1_uc021xgd.1_Silent_p.S982S|PLCH1_uc021xgf.1_Silent_p.S944S	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	982					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATACAGGCAGCGACAAAGCTC	0.468													T	155203197	C	T	155203197	2	4	4	1	0	0	0	0	0	0	0	1	12037	755	27	1		1	PLCH1	3	155203197	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1147521	155203197	42819233	955	3020											
PLCH1	23007	broad.mit.edu	37	chr3	155215148	155215148	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcggccacggagtttgtgtAcacaaccaaatcagagagtt	11	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:155215148A>G	uc021xge.1	-	13	2096	c.1819T>C	c.(1819-1821)Tac>Cac	p.Y607H	PLCH1_uc021xgd.1_Missense_Mutation_p.Y607H|PLCH1_uc021xgf.1_Missense_Mutation_p.Y589H	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	607	PI-PLC Y-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GAGTTTGTGTACACAACCAAA	0.453													G	155215148	A	G	155215148	3	3	4	1	0	0	0	0	1	0	0	0	12037	391	14	3	3317	3	PLCH1	3	155215148	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	11951	155215148	42807282	956	3021											
SLC33A1	9197	broad.mit.edu	37	chr3	155560396	155560396	+	Frame_Shift_Del	DEL	A	A	-													ttaaaaatacagttccccagAaaaaaaggaaatctgaaaat							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:155560395_155560395GA>G	uc003fan.4	-	1	1251	c.789_789TC>C	c.(787-789)ttcfs	p.F263fs	SLC33A1_uc003fao.2_Frame_Shift_Del_p.F263fs	NM_001190992	NP_004724	O00400	ACATN_HUMAN	Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA.	263					cell death|transmembrane transport	Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAGTTCCCCAGAAAAAAAGGA	0.244													-	155560396	A	-	155560396	7	5	4	1	0	1	0	1	0	0	0	0	14566	246	9	0	881	0	SLC33A1	3	155560396	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	345248	155560396	42462034	957	3022											
GMPS	8833	broad.mit.edu	37	chr3	155639982	155639982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcctacctttaggtcctgGcctggcaatcagagtaatat	8	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:155639982G>A	uc003faq.3	+	10	1660	c.1325G>A	c.(1324-1326)gGc>gAc	p.G442D	GMPS_uc011bom.2_Missense_Mutation_p.G343D	NM_003875	NP_003866	P49915	GUAA_HUMAN	Homo sapiens guanine monphosphate synthetase (GMPS), mRNA.	442					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	p.G442G(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTAGGTCCTGGCCTGGCAATC	0.284			T	MLL	AML								A	155639982	G	A	155639982	3	1	4	1	0	0	0	0	1	0	0	0	6498	1203	42	2	1367	2	GMPS	3	155639982	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	79586	155639982	42382448	958	3023											
SSR3	6747	broad.mit.edu	37	chr3	156272757	156272757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcactcacagatggggatgGcagacacgatgaacgcgttt	13	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:156272757G>A	uc011bop.2	-	0	217	c.122C>T	c.(121-123)gCc>gTc	p.A41V	SSR3_uc003fau.3_Missense_Mutation_p.A41V	NM_007107	NP_009038	Q9UNL2	SSRG_HUMAN	Homo sapiens signal sequence receptor, gamma (translocon-associated protein gamma) (SSR3), mRNA.	41					cotranslational protein targeting to membrane	Sec61 translocon complex|integral to endoplasmic reticulum membrane|microsome	protein binding|signal sequence binding			endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GATGGGGATGGCAGACACGAT	0.652													A	156272757	G	A	156272757	3	1	4	1	0	0	0	0	1	0	0	0	15191	1203	42	2	455	2	SSR3	3	156272757	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	632775	156272757	41749673	959	3024											
TIPARP	25976	broad.mit.edu	37	chr3	156396186	156396186	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaccagttgcagtaccacActcaccaagagaacggaatt	8	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:156396186A>C	uc003fav.3	+	1	1122	c.700A>C	c.(700-702)Act>Cct	p.T234P	TIPARP-AS1_uc011boq.2_5'Flank|TIPARP_uc003faw.3_Missense_Mutation_p.T234P|TIPARP_uc021xgg.1_Missense_Mutation_p.T234P	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.	234							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GCAGTACCACACTCACCAAGA	0.463													C	156396186	A	C	156396186	3	2	4	1	0	0	0	0	1	0	0	0	15921	159	6	5	702	5	TIPARP	3	156396186	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	123429	156396186	41626244	960	3025											
RSRC1	51319	broad.mit.edu	37	chr3	157920883	157920883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtcaagacctcgtctcCgttctcatagtcgtagcagt	9	13	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:157920883C>T	uc003fbt.3	+	3	454	c.343C>T	c.(343-345)Cgt>Tgt	p.R115C	RSRC1_uc011bou.1_Intron|RSRC1_uc003fbu.1_Missense_Mutation_p.R115C|RSRC1_uc003fbv.3_Intron	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Homo sapiens arginine/serine-rich coiled-coil 1 (RSRC1), mRNA.	115	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			ACCTCGTCTCCGTTCTCATAG	0.398													T	157920883	C	T	157920883	3	4	4	1	0	0	0	0	1	0	0	0	13714	652	23	1	353	1	RSRC1	3	157920883	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1524697	157920883	40101547	961	3026											
MLF1	4291	broad.mit.edu	37	chr3	158322983	158322983	+	Frame_Shift_Del	DEL	A	A	-													gctcatctgtgaaaagcaacAaaaaataaatagccatgcat							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:158322982_158322982CA>C	uc003fcc.3	+	8	1254	c.891_891CA>C	c.(889-891)aacfs	p.N297fs	MLF1_uc003fbx.3_Frame_Shift_Del_p.N256fs|MLF1_uc003fbz.3_Frame_Shift_Del_p.N241fs|MLF1_uc003fca.3_Frame_Shift_Del_p.N241fs|MLF1_uc003fcb.3_Frame_Shift_Del_p.N266fs|MLF1_uc010hvx.3_Frame_Shift_Del_p.N198fs|MLF1_uc003fby.3_Frame_Shift_Del_p.N192fs	NM_001195432	NP_001182361	P58340	MLF1_HUMAN	Homo sapiens myeloid leukemia factor 1 (MLF1), transcript variant 4, mRNA.	266					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TGAAAAGCAACAAAAAATAAA	0.373			T	NPM1	AML								-	158322983	A	-	158322983	7	5	4	1	0	1	0	1	0	0	0	0	9614	131	5	0	825	0	MLF1	3	158322983	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	402100	158322983	39699447	962	3027											
SMC4	10051	broad.mit.edu	37	chr3	160138560	160138560	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccattgatgaaaaatacgaCgtggctatatcatcctgttg	9	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:160138560C>T	uc003fdh.3	+	12	2003	c.1890C>T	c.(1888-1890)gaC>gaT	p.D630D	IFT80_uc003fda.3_Intron|SMC4_uc010hwc.1_Silent_p.D394D|SMC4_uc003fdi.3_Silent_p.D605D|SMC4_uc003fdj.3_Silent_p.D630D|SMC4_uc010hwd.3_Silent_p.D630D|SMC4_uc003fdl.3_Silent_p.D333D	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	630	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAAAATACGACGTGGCTATAT	0.378													T	160138560	C	T	160138560	2	4	4	1	0	0	0	0	0	0	0	1	14785	535	19	1		1	SMC4	3	160138560	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1815577	160138560	37883870	963	3028											
SI	6476	broad.mit.edu	37	chr3	164709998	164709998	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccaccgagcattggggacGtaggcatttacagtttgaac	11	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:164709998G>A	uc003fei.3	-	42	5013	c.4950C>T	c.(4948-4950)taC>taT	p.Y1650Y		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1650	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CATTGGGGACGTAGGCATTTA	0.353										HNSCC(35;0.089)			A	164709998	G	A	164709998	2	1	4	1	0	0	0	0	0	0	0	1	14297	1140	40	1		1	SI	3	164709998	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4571438	164709998	33312432	964	3029											
SERPINI2	5276	broad.mit.edu	37	chr3	167189546	167189546	+	Frame_Shift_Del	DEL	T	T	-													gatccactgcaaattcggtaTttttttgagctgagcatctt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:167189545_167189545AT>A	uc003fes.1	-	1	179	c.108_108AT>T	c.(106-108)aatfs	p.N36fs	SERPINI2_uc003fer.1_Frame_Shift_Del_p.N26fs|SERPINI2_uc003fet.1_Frame_Shift_Del_p.N26fs	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	26					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.Q35Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CAAATTCGGTATTTTTTTGAG	0.363													-	167189546	T	-	167189546	7	5	4	1	0	1	0	1	0	0	0	0	14119	1493	52	0	1172	0	SERPINI2	3	167189546	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	2479548	167189546	30832884	965	3030											
GPR160	26996	broad.mit.edu	37	chr3	169802469	169802470	+	Frame_Shift_Ins	INS	-	-	A													cagttatactgtgagatctaINSaaaaaatattcttatccaag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:169802468_169802469T>TA	uc003fgi.3	+	3	1298_1299	c.708_709T>TA	c.(706-711)tctaaafs	p.S236fs	GPR160_uc010hwq.3_Frame_Shift_Ins_p.S236fs|GPR160_uc021xhe.1_Frame_Shift_Ins_p.S236fs	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	Homo sapiens G protein-coupled receptor 160 (GPR160), mRNA.	236						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CTGTGAGATCTAAAAAAATATT	0.327													A	169802470	-	A	169802469	7	5	4	1	0	1	1	0	0	0	0	0	6664	363	13	0	711	0	GPR160	3	169802469	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	2612923	169802469	28219961	966	3031											
SLC7A14	57709	broad.mit.edu	37	chr3	170184883	170184883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcatcatttgcaatcaggGcctctgagttctgtttgtgt	9	9	5	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:170184883G>A	uc003fgz.2	-	7	2592	c.2276C>T	c.(2275-2277)gCc>gTc	p.A759V	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_5'Flank	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	759						integral to membrane	amino acid transmembrane transporter activity	p.E758G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGCAATCAGGGCCTCTGAGTT	0.443													A	170184883	G	A	170184883	3	1	4	1	0	0	0	0	1	0	0	0	14696	1203	42	2	43	2	SLC7A14	3	170184883	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	382414	170184883	27837547	967	3032											
TNIK	23043	broad.mit.edu	37	chr3	170805172	170805172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggaatgggttgagacgcGccccagtccctcagtcgggg	16	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:170805172G>A	uc003fhh.2	-	23	3190	c.2845C>T	c.(2845-2847)Cgc>Tgc	p.R949C	TNIK_uc003fhi.2_Missense_Mutation_p.R894C|TNIK_uc003fhj.2_Missense_Mutation_p.R920C|TNIK_uc003fhk.2_Missense_Mutation_p.R941C|TNIK_uc003fhl.2_Missense_Mutation_p.R865C|TNIK_uc003fhm.2_Missense_Mutation_p.R886C|TNIK_uc003fhn.2_Missense_Mutation_p.R912C|TNIK_uc003fho.2_Missense_Mutation_p.R857C|TNIK_uc003fhg.2_Missense_Mutation_p.R127C	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	949	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GTTGAGACGCGCCCCAGTCCC	0.577													A	170805172	G	A	170805172	3	1	4	1	0	0	0	0	1	0	0	0	16310	1087	38	1	1277	1	TNIK	3	170805172	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	620289	170805172	27217258	968	3033											
GHSR	2693	broad.mit.edu	37	chr3	172166024	172166024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcatggtgagcaggttGccagcgatgcccaccacgaa	12	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:172166024G>A	uc003fib.2	-	0	223	c.180C>T	c.(178-180)ggC>ggT	p.G60G	GHSR_uc011bpv.2_Silent_p.G60G	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	60					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGAGCAGGTTGCCAGCGATGC	0.662													A	172166024	G	A	172166024	2	1	4	1	0	0	0	0	0	0	0	1	6375	1306	46	2		2	GHSR	3	172166024	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1360852	172166024	25856406	969	3034											
ZNF639	51193	broad.mit.edu	37	chr3	179051265	179051265	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccaaactgatgaagaaccGccagctaaactttgtaaaat	7	9	0	3	rs17852358		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:179051265G>A	uc003fjr.1	+	6	958	c.513G>A	c.(511-513)ccG>ccA	p.P171P	ZNF639_uc003fjq.1_Silent_p.P171P	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	Homo sapiens zinc finger protein 639 (ZNF639), mRNA.	171					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.P171L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ATGAAGAACCGCCAGCTAAAC	0.418													A	179051265	G	A	179051265	2	1	4	1	0	0	0	0	0	0	0	1	18053	1074	38	1		1	ZNF639	3	179051265	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	6885241	179051265	18971165	970	3035											
ZNF639	51193	broad.mit.edu	37	chr3	179052028	179052028	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcatttaaattcacatTtatctgaagggatttattta	6	5	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:179052028T>G	uc003fjr.1	+	6	1721	c.1276T>G	c.(1276-1278)Tta>Gta	p.L426V	ZNF639_uc003fjq.1_Missense_Mutation_p.L426V	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	Homo sapiens zinc finger protein 639 (ZNF639), mRNA.	426	Interaction with CTNNA2.				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AAATTCACATTTATCTGAAGG	0.313													G	179052028	T	G	179052028	3	3	4	1	0	0	0	0	1	0	0	0	18053	1838	64	5	1290	5	ZNF639	3	179052028	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	763	179052028	18970402	971	3036											
MFN1	55669	broad.mit.edu	37	chr3	179069813	179069813	+	Frame_Shift_Del	DEL	T	T	-													ggagacacatgaaggtggcaTtttttggcaggtaattattt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:179069812_179069812AT>A	uc003fjt.3	+	1	328	c.321_321AT>A	c.(319-321)gcafs	p.A107fs	MFN1_uc003fjs.3_Frame_Shift_Del_p.A79fs|MFN1_uc010hxb.3_Non-coding_Transcript	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	Homo sapiens mitofusin 1 (MFN1), nuclear gene encoding mitochondrial protein, mRNA.	79					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	p.G106G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGAAGGTGGCATTTTTTGGCA	0.383													-	179069813	T	-	179069813	7	5	4	1	0	1	0	1	0	0	0	0	9523	1493	52	0	244	0	MFN1	3	179069813	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	17785	179069813	18952617	972	3037											
USP13	8975	broad.mit.edu	37	chr3	179408081	179408081	+	Frame_Shift_Del	DEL	T	T	-													aaaaaggaggaattccaagaTttttttaggtaaatagttat							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:179408080_179408080AT>A	uc003fkh.3	+	2	427	c.346_346AT>A	c.(346-348)attfs	p.I116fs		NM_003940	NP_003931	Q92995	UBP13_HUMAN	Homo sapiens ubiquitin specific peptidase 13 (isopeptidase T-3) (USP13), mRNA.	116					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GAATTCCAAGATTTTTTTAGG	0.353													-	179408081	T	-	179408081	7	5	4	1	0	1	0	1	0	0	0	0	17041	1493	52	0	357	0	USP13	3	179408081	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	338268	179408081	18614349	973	3038											
USP13	8975	broad.mit.edu	37	chr3	179437789	179437789	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttggccaagcacttagcGcattttggaattgatatgct	9	8	0	1	rs148480598	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:179437789G>A	uc003fkh.3	+	6	948	c.867G>A	c.(865-867)gcG>gcA	p.A289A		NM_003940	NP_003931	Q92995	UBP13_HUMAN	Homo sapiens ubiquitin specific peptidase 13 (isopeptidase T-3) (USP13), mRNA.	289					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AGCACTTAGCGCATTTTGGAA	0.433													A	179437789	G	A	179437789	2	1	4	1	0	0	0	0	0	0	0	1	17041	1074	38	1		1	USP13	3	179437789	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	29708	179437789	18584641	974	3039											
PEX5L	51555	broad.mit.edu	37	chr3	179519671	179519671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtcaccaagattagccGcctggaagagttctggttgg	13	10	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:179519671G>A	uc003fki.1	-	14	1956	c.1826C>T	c.(1825-1827)gCg>gTg	p.A609V	PEX5L_uc011bqd.1_Missense_Mutation_p.A566V|PEX5L_uc011bqe.1_Missense_Mutation_p.A417V|PEX5L_uc011bqf.1_Missense_Mutation_p.A501V|PEX5L_uc003fkj.1_Missense_Mutation_p.A574V|PEX5L_uc010hxd.1_Missense_Mutation_p.A607V|PEX5L_uc011bqg.1_Missense_Mutation_p.A585V|PEX5L_uc011bqh.1_Missense_Mutation_p.A550V	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	609					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AAGATTAGCCGCCTGGAAGAG	0.463													A	179519671	G	A	179519671	3	1	4	1	0	0	0	0	1	0	0	0	11749	1087	38	1	58	1	PEX5L	3	179519671	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	81882	179519671	18502759	975	3040											
CCDC39	339829	broad.mit.edu	37	chr3	180334111	180334111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagatctagagctctgaCgactgccttttgtgctagct	11	9	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:180334111C>T	uc010hxe.3	-	18	2742	c.2627G>A	c.(2626-2628)cGt>cAt	p.R876H	CCDC39_uc003fkn.3_Non-coding_Transcript|TTC14_uc003fkm.2_Intron	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	876	Ser-rich.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGAGCTCTGACGACTGCCTTT	0.383													T	180334111	C	T	180334111	3	4	4	1	0	0	0	0	1	0	0	0	2811	536	19	1	206	1	CCDC39	3	180334111	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	814440	180334111	17688319	976	3041											
FXR1	8087	broad.mit.edu	37	chr3	180688056	180688056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtactaaccgtcgtaggCggtctcgtagacgaaggact	12	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:180688056C>T	uc003fkq.3	+	14	1753	c.1513C>T	c.(1513-1515)Cgg>Tgg	p.R505W	FXR1_uc003fkp.3_Missense_Mutation_p.R420W|FXR1_uc003fkr.3_Missense_Mutation_p.R505W|FXR1_uc011bqj.2_Missense_Mutation_p.R419W|FXR1_uc003fks.3_Missense_Mutation_p.R448W|FXR1_uc011bqk.2_Missense_Mutation_p.R456W|FXR1_uc011bql.2_Missense_Mutation_p.R492W	NM_005087	NP_001013457	P51114	FXR1_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA.	505	Poly-Arg.				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CCGTCGTAGGCGGTCTCGTAG	0.443													T	180688056	C	T	180688056	3	4	4	1	0	0	0	0	1	0	0	0	6115	759	27	1	1571	1	FXR1	3	180688056	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	353945	180688056	17334374	977	3042											
MCF2L2	23101	broad.mit.edu	37	chr3	182941891	182941891	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcaacattaccccaaAgtaggcgcagtcttgacact	6	13	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:182941891A>C	uc003fli.1	-	18	2293	c.2203T>G	c.(2203-2205)Ttt>Gtt	p.F735V		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	735	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ATTACCCCAAAGTAGGCGCAG	0.408													C	182941891	A	C	182941891	3	2	4	1	0	0	0	0	1	0	0	0	9380	72	3	5	1189	5	MCF2L2	3	182941891	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	2253835	182941891	15080539	978	3043											
YEATS2	55689	broad.mit.edu	37	chr3	183490118	183490118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggtaccagttgggtctgCtttaccttcaacagtgaagc	12	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:183490118C>T	uc003fly.2	+	15	2168	c.1973C>T	c.(1972-1974)gCt>gTt	p.A658V		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	658					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTTGGGTCTGCTTTACCTTCA	0.537													T	183490118	C	T	183490118	3	4	4	1	0	0	0	0	1	0	0	0	17469	797	28	2	2031	2	YEATS2	3	183490118	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	548227	183490118	14532312	979	3044											
ABCC5	10057	broad.mit.edu	37	chr3	183689508	183689508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccgcctgatgctcagtgCgctgcagctgcctcaccttc	10	17	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:183689508C>T	uc003fmg.3	-	10	1769	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	ABCC5_uc011bqt.2_Missense_Mutation_p.R63H|ABCC5_uc010hxl.3_Missense_Mutation_p.R535H	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	535						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.R535L(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATGCTCAGTGCGCTGCAGCTG	0.582													T	183689508	C	T	183689508	3	4	4	1	0	0	0	0	1	0	0	0	56	768	27	1	2789	1	ABCC5	3	183689508	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	199390	183689508	14332922	980	3045											
DVL3	1857	broad.mit.edu	37	chr3	183888381	183888381	+	Frame_Shift_Del	DEL	C	C	-													ggagtgccccctctctacggCccccccatgctgatgatgcc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:183888381delC	uc003fms.2	+	15	2129	c.1989delC	c.(1987-1989)GGCfs	p.G663fs	DVL3_uc011bqw.1_Frame_Shift_Del_p.G646fs|DVL3_uc003fmt.2_Frame_Shift_Del_p.G334fs|DVL3_uc003fmu.2_Frame_Shift_Del_p.G495fs	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	663					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CTCTCTACGGCCCCCCCATGC	0.736													-	183888381	C	-	183888381	7	5	4	1	0	1	0	1	0	0	0	0	4837	726	26	0	2047	0	DVL3	3	183888381	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	198873	183888381	14134049	981	3046											
AP2M1	1173	broad.mit.edu	37	chr3	183900553	183900553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgttcccaggatcaagcGcatggcaggcatgaaggaat	13	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:183900553G>A	uc021xig.1	+	9	1113	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	AP2M1_uc003fmw.3_Missense_Mutation_p.R355H|AP2M1_uc021xif.1_Missense_Mutation_p.R173H|AP2M1_uc011bqy.2_Missense_Mutation_p.R227H|AP2M1_uc011bqz.2_Missense_Mutation_p.R173H	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	Homo sapiens adaptor-related protein complex 2, mu 1 subunit (AP2M1), transcript variant 1, mRNA.	357	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGATCAAGCGCATGGCAGGC	0.542													A	183900553	G	A	183900553	3	1	4	1	0	0	0	0	1	0	0	0	742	1087	38	1	1105	1	AP2M1	3	183900553	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	12172	183900553	14121877	982	3047											
ABCF3	55324	broad.mit.edu	37	chr3	183910955	183910955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccggagaactggccatgCgtcctcttgccagcctgtct	10	15	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:183910955C>T	uc003fmz.2	+	18	1949	c.1816C>T	c.(1816-1818)Cgt>Tgt	p.R606C	ABCF3_uc003fna.2_Missense_Mutation_p.R600C|ABCF3_uc003fnb.2_Missense_Mutation_p.R287C	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.	606	ABC transporter 2.						ATP binding|ATPase activity	p.R606H(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACTGGCCATGCGTCCTCTTGC	0.607													T	183910955	C	T	183910955	3	4	4	1	0	0	0	0	1	0	0	0	67	768	27	1	1890	1	ABCF3	3	183910955	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	10402	183910955	14111475	983	3048											
CAMK2N2	94032	broad.mit.edu	37	chr3	183978984	183978984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaggagttggtgtcctgCaggcggcagctgaaggagag	18	6	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:183978984C>T	uc003fnj.1	-	0	268	c.90G>A	c.(88-90)ctG>ctA	p.L30L	ECE2_uc003fni.4_Intron	NM_033259	NP_150284	Q96S95	CK2N2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II inhibitor 2 (CAMK2N2), mRNA.	30						cytosol|nucleus	protein kinase inhibitor activity					all_cancers(143;1.09e-10)|Ovarian(172;0.0339)		Epithelial(37;2.51e-33)|OV - Ovarian serous cystadenocarcinoma(80;5.69e-22)			TGGTGTCCTGCAGGCGGCAGC	0.701													T	183978984	C	T	183978984	2	4	4	1	0	0	0	0	0	0	0	1	2604	697	25	2		2	CAMK2N2	3	183978984	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	68029	183978984	14043446	984	3049											
ECE2	9718	broad.mit.edu	37	chr3	184002835	184002835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgactctgagcctgtggtgGtgtatgggatggattatttg	16	4	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:184002835G>A	uc003fni.4	+	8	1482	c.1444G>A	c.(1444-1446)Gtg>Atg	p.V482M	ECE2_uc011brh.1_Missense_Mutation_p.V335M|ECE2_uc003fnl.4_Missense_Mutation_p.V410M|ECE2_uc003fnm.4_Missense_Mutation_p.V364M|ECE2_uc003fnk.4_Missense_Mutation_p.V335M|ECE2_uc011bri.1_Missense_Mutation_p.V397M|ECE2_uc010hxv.3_Missense_Mutation_p.V126M	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	482	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCTGTGGTGGTGTATGGGAT	0.542											OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	184002835	G	A	184002835	3	1	4	1	0	0	0	0	1	0	0	0	4890	1261	44	4	2042	4	ECE2	3	184002835	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	23851	184002835	14019595	985	3050											
ECE2	9718	broad.mit.edu	37	chr3	184008830	184008830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgagttctcctcagggCgcgagtatgacaaagaaggg	15	7	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:184008830C>T	uc003fni.4	+	16	2229	c.2191C>T	c.(2191-2193)Cgc>Tgc	p.R731C	ECE2_uc011brh.1_Missense_Mutation_p.R584C|ECE2_uc003fnl.4_Missense_Mutation_p.R659C|ECE2_uc003fnm.4_Missense_Mutation_p.R613C|ECE2_uc003fnk.4_Missense_Mutation_p.R584C|ECE2_uc011bri.1_Missense_Mutation_p.R646C|ECE2_uc010hxv.3_3'UTR	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	731	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTCCTCAGGGCGCGAGTATGA	0.607													T	184008830	C	T	184008830	3	4	4	1	0	0	0	0	1	0	0	0	4890	768	27	1	2821	1	ECE2	3	184008830	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	5995	184008830	14013600	986	3051											
PSMD2	5708	broad.mit.edu	37	chr3	184025435	184025435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtctggctgcaatgctgcGccagttagctcaatatcatg	10	12	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:184025435G>A	uc003fnn.1	+	17	2270	c.2237G>A	c.(2236-2238)cGc>cAc	p.R746H	PSMD2_uc011brj.1_Missense_Mutation_p.R587H|PSMD2_uc011brk.1_Missense_Mutation_p.R616H	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 (PSMD2), mRNA.	746					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	p.R746H(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GCAATGCTGCGCCAGTTAGCT	0.483													A	184025435	G	A	184025435	3	1	4	1	0	0	0	0	1	0	0	0	12698	1087	38	1	2307	1	PSMD2	3	184025435	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	16605	184025435	13996995	987	3052											
EIF4G1	1981	broad.mit.edu	37	chr3	184039307	184039307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaactggggagccatatcGcctctctccagaacccactc	8	15	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:184039307G>A	uc003fnp.3	+	9	1206	c.935G>A	c.(934-936)cGc>cAc	p.R312H	EIF4G1_uc003fno.2_Missense_Mutation_p.R253H|EIF4G1_uc010hxw.2_Missense_Mutation_p.R148H|EIF4G1_uc010hxx.3_Missense_Mutation_p.R319H|EIF4G1_uc003fnt.3_Missense_Mutation_p.R23H|EIF4G1_uc010hxy.3_Missense_Mutation_p.R319H|EIF4G1_uc003fnq.3_Missense_Mutation_p.R225H|EIF4G1_uc003fnr.3_Missense_Mutation_p.R148H|EIF4G1_uc003fns.3_Missense_Mutation_p.R272H|EIF4G1_uc003fnv.4_Missense_Mutation_p.R312H|EIF4G1_uc003fnw.3_Missense_Mutation_p.R319H|EIF4G1_uc003fnx.3_Missense_Mutation_p.R116H	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	312					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.R312H(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGCCATATCGCCTCTCTCCA	0.493													A	184039307	G	A	184039307	3	1	4	1	0	0	0	0	1	0	0	0	5036	1087	38	1	965	1	EIF4G1	3	184039307	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	13872	184039307	13983123	988	3053											
EPHB3	2049	broad.mit.edu	37	chr3	184290699	184290699	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccttccaggaccagggCgcctgcatgtcgctcatctc	11	16	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:184290699C>T	uc003foz.3	+	2	1028	c.591C>T	c.(589-591)ggC>ggT	p.G197G		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	197						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGGACCAGGGCGCCTGCATGT	0.637													T	184290699	C	T	184290699	2	4	4	1	0	0	0	0	0	0	0	1	5176	755	27	1		1	EPHB3	3	184290699	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	251392	184290699	13731731	989	3054											
EPHB3	2049	broad.mit.edu	37	chr3	184297350	184297350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtttgccaaggagatcgaCgtgtcctgcgtcaagatcga	13	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:184297350C>T	uc003foz.3	+	9	2324	c.1887C>T	c.(1885-1887)gaC>gaT	p.D629D		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	629						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGGAGATCGACGTGTCCTGCG	0.547													T	184297350	C	T	184297350	2	4	4	1	0	0	0	0	0	0	0	1	5176	535	19	1		1	EPHB3	3	184297350	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	6651	184297350	13725080	990	3055											
VPS8	23355	broad.mit.edu	37	chr3	184714256	184714256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgcagcagtacaagagacGccaagaaatggctgatgaaa	11	7	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:184714256G>A	uc021xik.1	+	42	3891	c.3803G>A	c.(3802-3804)cGc>cAc	p.R1268H	VPS8_uc003fpb.1_Missense_Mutation_p.R1266H|VPS8_uc010hyd.1_Missense_Mutation_p.R1176H|VPS8_uc010hye.1_Missense_Mutation_p.R695H	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	1268							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TACAAGAGACGCCAAGAAATG	0.418													A	184714256	G	A	184714256	3	1	4	1	0	0	0	0	1	0	0	0	17215	1087	38	1	3969	1	VPS8	3	184714256	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	416906	184714256	13308174	991	3056											
SENP2	59343	broad.mit.edu	37	chr3	185347619	185347619	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgggaaatccttcatcAgcagttgctgtgagaaaact	12	7	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:185347619A>C	uc003fpn.3	+	16	1928	c.1757A>C	c.(1756-1758)cAg>cCg	p.Q586P	SENP2_uc011brv.2_Missense_Mutation_p.Q576P|SENP2_uc011brw.2_Missense_Mutation_p.Q399P	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	586					Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			ATCCTTCATCAGCAGTTGCTG	0.468													C	185347619	A	C	185347619	3	2	4	1	0	0	0	0	1	0	0	0	14047	188	7	5	1823	5	SENP2	3	185347619	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	633363	185347619	12674811	992	3057											
TRA2B	6434	broad.mit.edu	37	chr3	185643269	185643269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccgattcccaacatgacGcctgcgagtagacatgggag	11	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:185643269G>A	uc003fpv.3	-	2	592	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C	TRA2B_uc003fpt.3_5'Flank|TRA2B_uc003fpu.3_Non-coding_Transcript|TRA2B_uc010hym.3_Missense_Mutation_p.R6C	NM_004593	NP_001230808	P62995	TRA2B_HUMAN	Homo sapiens transformer 2 beta homolog (Drosophila) (TRA2B), transcript variant 1, mRNA.	106	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						CCAACATGACGCCTGCGAGTA	0.463													A	185643269	G	A	185643269	3	1	4	1	0	0	0	0	1	0	0	0	16431	1087	38	1	578	1	TRA2B	3	185643269	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	295650	185643269	12379161	993	3058											
TBCCD1	55171	broad.mit.edu	37	chr3	186281967	186281967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatgtagaccagtagaggCgcgggtaagctccttctgtg	13	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:186281967C>T	uc003fqg.3	-	1	281	c.152G>A	c.(151-153)cGc>cAc	p.R51H	TBCCD1_uc011bry.2_Missense_Mutation_p.R51H|TBCCD1_uc003fqh.3_Intron	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	Homo sapiens TBCC domain containing 1 (TBCCD1), transcript variant 2, mRNA.	51					cell morphogenesis|maintenance of Golgi location|maintenance of centrosome location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		CCAGTAGAGGCGCGGGTAAGC	0.517													T	186281967	C	T	186281967	3	4	4	1	0	0	0	0	1	0	0	0	15629	768	27	1	1545	1	TBCCD1	3	186281967	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	638698	186281967	11740463	994	3059											
HRG	3273	broad.mit.edu	37	chr3	186395126	186395126	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagacattctcataataaTaattccagtgacctccatcc	3	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:186395126T>C	uc003fqq.3	+	6	1055	c.1032T>C	c.(1030-1032)aaT>aaC	p.N344N		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	344					fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CTCATAATAATAATTCCAGTG	0.483													C	186395126	T	C	186395126	2	2	4	1	0	0	0	0	0	0	0	1	7354	1403	49	3		3	HRG	3	186395126	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	113159	186395126	11627304	995	3060											
ST6GAL1	6480	broad.mit.edu	37	chr3	186761061	186761061	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctgttgtgtcgtcagcGggatctctgaagtcctccca	12	11	2	1	rs141692826		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:186761061G>A	uc003frb.3	+	3	1203	c.570G>A	c.(568-570)gcG>gcA	p.A190A	ST6GAL1_uc003frc.3_Intron|ST6GAL1_uc003frd.3_Silent_p.A190A	NM_173216	NP_775323	P15907	SIAT1_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 (ST6GAL1), transcript variant 1, mRNA.	190					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.A190A(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		TGTCGTCAGCGGGATCTCTGA	0.522													A	186761061	G	A	186761061	2	1	4	1	0	0	0	0	0	0	0	1	15220	1103	39	1		1	ST6GAL1	3	186761061	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	365935	186761061	11261369	996	3061											
BCL6	604	broad.mit.edu	37	chr3	187451444	187451444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaacatcactggcatggCgggtgaactggatacagctg	14	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:187451444C>T	uc003frp.3	-	2	495	c.38G>A	c.(37-39)cGc>cAc	p.R13H	BCL6_uc011bsf.1_Missense_Mutation_p.R13H|BCL6_uc010hza.2_5'UTR|BCL6_uc003frq.2_Missense_Mutation_p.R13H	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	13					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R13G(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ACTGGCATGGCGGGTGAACTG	0.488			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								T	187451444	C	T	187451444	3	4	4	1	0	0	0	0	1	0	0	0	1376	768	27	1	2114	1	BCL6	3	187451444	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	690383	187451444	10570986	997	3062											
CLDN1	9076	broad.mit.edu	37	chr3	190030679	190030679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgcaagaagaaatatcgCacccccaatgacagccatcc	6	15	0	3	rs140846629	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:190030679C>T	uc003fsh.3	-	1	610	c.370G>A	c.(370-372)Gcg>Acg	p.A124T		NM_021101	NP_066924	O95832	CLD1_HUMAN	Homo sapiens claudin 1 (CLDN1), mRNA.	124					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		AGAAATATCGCACCCCCAATG	0.458													T	190030679	C	T	190030679	3	4	4	1	0	0	0	0	1	0	0	0	3471	710	25	2	277	2	CLDN1	3	190030679	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2579235	190030679	7991751	998	3063											
CCDC50	152137	broad.mit.edu	37	chr3	191093199	191093199	+	Frame_Shift_Del	DEL	A	A	-													ccatcagactcgaaattgggAaaaacagtctcgacaccaag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:191093198_191093198GA>G	uc003fsv.3	+	5	1386	c.796_796GA>G	c.(796-798)gaafs	p.E266fs	CCDC50_uc003fsw.3_Intron	NM_178335	NP_848018	Q8IVM0	CCD50_HUMAN	Homo sapiens coiled-coil domain containing 50 (CCDC50), transcript variant 2, mRNA.	286	Poly-Pro.					cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TCGAAATTGGGAAAAACAGTC	0.493													-	191093199	A	-	191093199	7	5	4	1	0	1	0	1	0	0	0	0	2820	246	9	0	819	0	CCDC50	3	191093199	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	1062520	191093199	6929231	999	3064											
CCDC50	152137	broad.mit.edu	37	chr3	191097951	191097951	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttttttaaaggaaTgaagccaagagtgatgaaag	9	2	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:191097951T>C	uc003fsv.3	+	6	1570	c.980T>C	c.(979-981)aTg>aCg	p.M327T	CCDC50_uc003fsw.3_Missense_Mutation_p.M151T	NM_178335	NP_848018	Q8IVM0	CCD50_HUMAN	Homo sapiens coiled-coil domain containing 50 (CCDC50), transcript variant 2, mRNA.	151						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TTTAAAGGAATGAAGCCAAGA	0.343													C	191097951	T	C	191097951	3	2	4	1	0	0	0	0	1	0	0	0	2820	1464	51	3	1006	3	CCDC50	3	191097951	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	4752	191097951	6924479	1000	3065											
ATP13A4	84239	broad.mit.edu	37	chr3	193171906	193171906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacctcgtcaaggtagtagCgtgatggtcattttccagct	10	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:193171906C>T	uc003ftd.3	-	16	2119	c.2011G>A	c.(2011-2013)Gct>Act	p.A671T	ATP13A4_uc003fte.1_Missense_Mutation_p.A671T|ATP13A4_uc011bsr.1_Missense_Mutation_p.A142T|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	671					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.A671T(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AAGGTAGTAGCGTGATGGTCA	0.438													T	193171906	C	T	193171906	3	4	4	1	0	0	0	0	1	0	0	0	1126	768	27	1	1635	1	ATP13A4	3	193171906	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2073955	193171906	4850524	1001	3066											
ATP13A4	84239	broad.mit.edu	37	chr3	193180607	193180607	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccgtcccttgttaaggtGcctgtctaaacagaaacaaa	8	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:193180607G>A	uc003ftd.3	-	12	1575	c.1467C>T	c.(1465-1467)ggC>ggT	p.G489G	ATP13A4_uc003fte.1_Silent_p.G489G|ATP13A4_uc011bsr.1_5'UTR|ATP13A4_uc010hzi.3_Non-coding_Transcript|ATP13A4_uc003ftf.4_Silent_p.G195G	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	489					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTGTTAAGGTGCCTGTCTAAA	0.517													A	193180607	G	A	193180607	2	1	4	1	0	0	0	0	0	0	0	1	1126	1306	46	2		2	ATP13A4	3	193180607	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	8701	193180607	4841823	1002	3067											
OPA1	4976	broad.mit.edu	37	chr3	193343987	193343987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctatgcccaacagaagcGcaaggtgatggatggtttaa	13	7	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:193343987G>A	uc003ftg.3	+	6	1019	c.785G>A	c.(784-786)cGc>cAc	p.R262H	OPA1_uc003fth.3_Missense_Mutation_p.R226H|OPA1_uc003fti.3_Missense_Mutation_p.R244H|OPA1_uc003ftj.3_Intron|OPA1_uc003ftk.3_Missense_Mutation_p.R208H|OPA1_uc003ftl.3_Intron|OPA1_uc003ftm.3_Intron|OPA1_uc003ftn.3_Intron	NM_130837	NP_570850	O60313	OPA1_HUMAN	Homo sapiens optic atrophy 1 (autosomal dominant) (OPA1), nuclear gene encoding mitochondrial protein, transcript variant 8, mRNA.	207					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CAACAGAAGCGCAAGGTGATG	0.473													A	193343987	G	A	193343987	3	1	4	1	0	0	0	0	1	0	0	0	10871	1087	38	1	811	1	OPA1	3	193343987	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	163380	193343987	4678443	1003	3068											
LRRC15	131578	broad.mit.edu	37	chr3	194080553	194080553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccaggtgatcgaagatgCcgaggggcaagttctccagc	13	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:194080553C>T	uc003ftt.3	-	2	1363	c.1238G>A	c.(1237-1239)gGc>gAc	p.G413D	LRRC15_uc003ftu.3_Missense_Mutation_p.G407D|LRRC15_uc021xiy.1_Missense_Mutation_p.G407D	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	407						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		ATCGAAGATGCCGAGGGGCAA	0.572													T	194080553	C	T	194080553	3	4	4	1	0	0	0	0	1	0	0	0	8970	739	26	2	529	2	LRRC15	3	194080553	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	736566	194080553	3941877	1004	3069											
ATP13A3	79572	broad.mit.edu	37	chr3	194158063	194158063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaggtttacagagaccgGcaatggcctcgggcgctcct	12	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:194158063G>A	uc003fty.4	-	17	2378	c.1976C>T	c.(1975-1977)gCc>gTc	p.A659V	ATP13A3_uc003ftz.1_Missense_Mutation_p.A365V	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	659					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ACAGAGACCGGCAATGGCCTC	0.438													A	194158063	G	A	194158063	3	1	4	1	0	0	0	0	1	0	0	0	1125	1203	42	2	1764	2	ATP13A3	3	194158063	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	77510	194158063	3864367	1005	3070											
PPP1R2	5504	broad.mit.edu	37	chr3	195245976	195245976	+	Frame_Shift_Del	DEL	T	T	-													ttttcatttcaaattgtcgcTttttttctataagatgcaaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:195245975_195245975CT>C	uc003fup.3	-	4	787	c.411_411AG>G	c.(409-411)aagfs	p.K137fs		NM_006241	NP_006232	P41236	IPP2_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 2 (PPP1R2), mRNA.	137					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		CAAATTGTCGCTTTTTTTCTA	0.323													-	195245976	T	-	195245976	7	5	4	1	0	1	0	1	0	0	0	0	12370	1609	56	0	215	0	PPP1R2	3	195245976	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	1087913	195245976	2776454	1006	3071											
MUC4	4585	broad.mit.edu	37	chr3	195508234	195508234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtgacaggaagaggcatgGtgtcacctgtggatactgag	15	6	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:195508234G>A	uc021xjp.1	-	1	10373	c.10217C>T	c.(10216-10218)aCc>aTc	p.T3406I	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_5'Flank|MUC4_uc021xjn.1_5'Flank|MUC4_uc021xjo.1_5'Flank|MUC4_uc021xjg.1_5'Flank|MUC4_uc021xjh.1_5'Flank|MUC4_uc021xji.1_5'Flank|MUC4_uc021xjj.1_5'Flank|MUC4_uc021xjk.1_5'Flank|MUC4_uc021xjl.1_5'Flank|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	180					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AAGAGGCATGGTGTCACCTGT	0.592													A	195508234	G	A	195508234	3	1	4	1	0	0	0	0	1	0	0	0	9978	1261	44	4		4	MUC4	3	195508234	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	262258	195508234	2514196	1007	3072											
MUC4	4585	broad.mit.edu	37	chr3	195508379	195508379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgacaggaagaggggtggCgtgacctgtggatactgagg	20	5	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:195508379C>T	uc021xjp.1	-	1	10228	c.10072G>A	c.(10072-10074)Gcc>Acc	p.A3358T	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_5'Flank|MUC4_uc021xjn.1_5'Flank|MUC4_uc021xjo.1_5'Flank|MUC4_uc021xjg.1_5'Flank|MUC4_uc021xjh.1_5'Flank|MUC4_uc021xji.1_5'Flank|MUC4_uc021xjj.1_5'Flank|MUC4_uc021xjk.1_5'Flank|MUC4_uc021xjl.1_5'Flank|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	141					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGCGTGACCTGTG	0.602													T	195508379	C	T	195508379	3	4	4	1	0	0	0	0	1	0	0	0	9978	768	27	1		1	MUC4	3	195508379	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	145	195508379	2514051	1008	3073											
TCTEX1D2	255758	broad.mit.edu	37	chr3	196022943	196022943	+	Splice_Site	DEL	A	A	-													aaacagcgagaagccatgctAaaaaatccaagaatgaagaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:196022942_196022942TA>T	uc003fwi.3	-	4	460	c.318_splice	c.e4-1	p.F106_splice		NM_152773	NP_689986	Q8WW35	TC1D2_HUMAN	Homo sapiens Tctex1 domain containing 2 (TCTEX1D2), mRNA.	106							protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GAAGCCATGCTAAAAAATCCA	0.368													-	196022943	A	-	196022943	8	5	4	1	0	1	0	1	0	0	1	0	15717	377	13	0		0	TCTEX1D2	3	196022943	Splice_Site	DEL	A	TCGA-BR-4184-01A-01D-1126-08	514564	196022943	1999487	1009	3074											
TM4SF19	116211	broad.mit.edu	37	chr3	196054415	196054415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggctcagtcccaggataCgggagcaagtccgtgagctt	13	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:196054415C>T	uc010iad.2	-	1	205	c.47G>A	c.(46-48)cGt>cAt	p.R16H	TM4SF19_uc003fwj.3_Non-coding_Transcript|TM4SF19_uc003fwl.2_Missense_Mutation_p.R16H|TM4SF19_uc021xjs.1_Missense_Mutation_p.R16H|TM4SF19_uc011btv.2_Missense_Mutation_p.R16H	NM_001204897	NP_001191826	Q96DZ7	T4S19_HUMAN	Homo sapiens transmembrane 4 L six family member 19 (TM4SF19), transcript variant 2, mRNA.	16						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TCCCAGGATACGGGAGCAAGT	0.607													T	196054415	C	T	196054415	3	4	4	1	0	0	0	0	1	0	0	0	15965	536	19	1	598	1	TM4SF19	3	196054415	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	31472	196054415	1968015	1010	3075											
LRRC33	375387	broad.mit.edu	37	chr3	196388524	196388524	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggtggcctgcactgtcatCgtcctcacttttaagaagcc	9	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:196388524C>T	uc003fwv.3	+	2	2114	c.2010C>T	c.(2008-2010)atC>atT	p.I670I		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	670						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GCACTGTCATCGTCCTCACTT	0.597													T	196388524	C	T	196388524	2	4	4	1	0	0	0	0	0	0	0	1	8988	874	31	1		1	LRRC33	3	196388524	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	334109	196388524	1633906	1011	3076											
PIGZ	80235	broad.mit.edu	37	chr3	196674848	196674848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgtgcgtgccatgtctcGccaggttttggggattcagg	16	10	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:196674848G>A	uc003fxh.3	-	2	1067	c.920C>T	c.(919-921)gCg>gTg	p.A307V		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA.	307					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GCCATGTCTCGCCAGGTTTTG	0.612													A	196674848	G	A	196674848	3	1	4	1	0	0	0	0	1	0	0	0	11905	1087	38	1	823	1	PIGZ	3	196674848	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	286324	196674848	1347582	1012	3077											
MFI2	4241	broad.mit.edu	37	chr3	196736624	196736624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctcatccaaggtgaaggCgtgggagctgtcccgtctca	13	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:196736624C>T	uc003fxk.4	-	10	1504	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T		NM_005929	NP_005920	P08582	TRFM_HUMAN	Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.	464	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		AAGGTGAAGGCGTGGGAGCTG	0.647													T	196736624	C	T	196736624	3	4	4	1	0	0	0	0	1	0	0	0	9522	768	27	1	850	1	MFI2	3	196736624	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	61776	196736624	1285806	1013	3078											
KIAA0226	9711	broad.mit.edu	37	chr3	197402018	197402018	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcagccgctcgcagcgCggacagcttccagacttgaa	12	15	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:197402018C>T	uc003fyc.2	-	19	2973	c.2790G>A	c.(2788-2790)ccG>ccA	p.P930P	KIAA0226_uc003fyd.3_Silent_p.P885P|KIAA0226_uc021xjw.1_5'Flank	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	930	Cys-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GCTCGCAGCGCGGACAGCTTC	0.587													T	197402018	C	T	197402018	2	4	4	1	0	0	0	0	0	0	0	1	8162	755	27	1		1	KIAA0226	3	197402018	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	665394	197402018	620412	1014	3079											
LRCH3	84859	broad.mit.edu	37	chr3	197559147	197559147	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actacgaagagaaagccagtAccaagagaaccgcggcagtt	11	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:197559147A>G	uc011bul.1	+	7	1066	c.1061A>G	c.(1060-1062)tAc>tGc	p.Y354C	LRCH3_uc003fyj.1_Missense_Mutation_p.Y354C|LRCH3_uc011bum.1_Missense_Mutation_p.Y354C|LRCH3_uc011bun.1_Missense_Mutation_p.Y228C|LRCH3_uc003fyk.2_5'UTR	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 3 (LRCH3), mRNA.	354						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GAAAGCCAGTACCAAGAGAAC	0.398													G	197559147	A	G	197559147	3	3	4	1	0	0	0	0	1	0	0	0	8934	391	14	3	1091	3	LRCH3	3	197559147	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	157129	197559147	463283	1015	3080											
IQCG	84223	broad.mit.edu	37	chr3	197618326	197618326	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttctttacctttataacGctctttaattccaagagatc	5	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:197618326G>A	uc003fyo.3	-	9	1334	c.1188C>T	c.(1186-1188)agC>agT	p.S396S	IQCG_uc003fyn.3_Silent_p.S298S|IQCG_uc003fyp.3_Silent_p.S396S	NM_001134435	NP_115639	Q9H095	IQCG_HUMAN	Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA.	396	IQ.									autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CCTTTATAACGCTCTTTAATT	0.378													A	197618326	G	A	197618326	2	1	4	1	0	0	0	0	0	0	0	1	7810	1078	38	1		1	IQCG	3	197618326	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	59179	197618326	404104	1016	3081											
IQCG	84223	broad.mit.edu	37	chr3	197618384	197618384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcctctccttttctataCgatcttcaatgatgacctgt	5	12	4	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:197618384C>T	uc003fyo.3	-	9	1276	c.1130G>A	c.(1129-1131)cGt>cAt	p.R377H	IQCG_uc003fyn.3_Missense_Mutation_p.R279H|IQCG_uc003fyp.3_Missense_Mutation_p.R377H	NM_001134435	NP_115639	Q9H095	IQCG_HUMAN	Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA.	377										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CTTTTCTATACGATCTTCAAT	0.398													T	197618384	C	T	197618384	3	4	4	1	0	0	0	0	1	0	0	0	7810	536	19	1	209	1	IQCG	3	197618384	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	58	197618384	404046	1017	3082											
ZNF718	255403	broad.mit.edu	37	chr4	86474	86474	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcttattatacacaggagCattcattctgaacaaaaact	5	8	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:86474C>A	uc003fzv.1	+	5	1182	c.1026C>A	c.(1024-1026)agC>agA	p.S342R	ZNF718_uc003fzt.4_Intron|ZNF718_uc003fzu.1_Intron|ZNF718_uc011bus.1_Missense_Mutation_p.S128R|ZNF718_uc011but.1_Missense_Mutation_p.S128R	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TACACAGGAGCATTCATTCTG	0.343													A	86474	C	A	86474	3	1	4	1	0	0	0	0	1	0	0	0	18117	710	25	5		5	ZNF718	4	86474	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08		86474	191067802	1018	3083											
PIGG	54872	broad.mit.edu	37	chr4	517475	517475	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctctgtgtggaacaaggGcatgacggggccacagcagc	16	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:517475G>A	uc003gak.4	+	8	1978	c.1842G>A	c.(1840-1842)ggG>ggA	p.G614G	PIGG_uc003gaj.4_Silent_p.G606G|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Silent_p.G481G|PIGG_uc003gal.4_Silent_p.G525G	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	614					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TGGAACAAGGGCATGACGGGG	0.587													A	517475	G	A	517475	2	1	4	1	0	0	0	0	0	0	0	1	11888	1190	42	2		2	PIGG	4	517475	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	431001	517475	190636801	1019	3084											
GAK	2580	broad.mit.edu	37	chr4	871523	871523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgggtgtcatgaccacgGccctcaccaggatgggcttg	14	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:871523G>A	uc003gbm.4	-	15	1935	c.1736C>T	c.(1735-1737)gCc>gTc	p.A579V	GAK_uc003gbn.4_Missense_Mutation_p.A500V|GAK_uc010ibk.1_Missense_Mutation_p.A473V|GAK_uc003gbl.4_Missense_Mutation_p.A443V	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	579	C2 tensin-type.				cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	p.A579V(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CATGACCACGGCCCTCACCAG	0.652													A	871523	G	A	871523	3	1	4	1	0	0	0	0	1	0	0	0	6195	1203	42	2	2251	2	GAK	4	871523	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	354048	871523	190282753	1020	3085											
CTBP1	1487	broad.mit.edu	37	chr4	1209971	1209971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaaggccttggcccgcagCgccactgcctgccccacgcg	12	20	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:1209971C>T	uc003gcw.3	-	4	735	c.570G>A	c.(568-570)gcG>gcA	p.A190A	AX747592_uc003gcs.1_Non-coding_Transcript|CTBP1_uc003gcu.1_Silent_p.A179A|CTBP1_uc003gcv.1_Silent_p.A190A	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	Homo sapiens C-terminal binding protein 1 (CTBP1), transcript variant 1, mRNA.	190					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		TGGCCCGCAGCGCCACTGCCT	0.682													T	1209971	C	T	1209971	2	4	4	1	0	0	0	0	0	0	0	1	3997	755	27	1		1	CTBP1	4	1209971	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	338448	1209971	189944305	1021	3086											
MAEA	10296	broad.mit.edu	37	chr4	1326598	1326598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccagctggacgaggtgcGccaggccatgggcatgctgg	18	11	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:1326598G>A	uc003gda.3	+	5	740	c.710G>A	c.(709-711)cGc>cAc	p.R237H	MAEA_uc003gdd.3_Non-coding_Transcript|MAEA_uc003gdb.3_Missense_Mutation_p.R196H|MAEA_uc011bvb.2_Missense_Mutation_p.R169H|MAEA_uc003gdc.3_Silent_p.A170A|MAEA_uc011bvc.2_Missense_Mutation_p.R236H|MAEA_uc011bvd.2_Missense_Mutation_p.R189H|MAEA_uc010ibt.3_Intron	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA.	237					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			GACGAGGTGCGCCAGGCCATG	0.547													A	1326598	G	A	1326598	3	1	4	1	0	0	0	0	1	0	0	0	9153	1087	38	1	732	1	MAEA	4	1326598	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	116627	1326598	189827678	1022	3087											
TNIP2	79155	broad.mit.edu	37	chr4	2746482	2746482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgggccgtcctggaggccGccagctcctgcttcacttcg	12	18	1	0	rs150823075		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:2746482G>A	uc003gfg.2	-	3	935	c.848C>T	c.(847-849)gCg>gTg	p.A283V	TNIP2_uc003gff.2_Missense_Mutation_p.A176V	NM_024309	NP_001154999	Q8NFZ5	TNIP2_HUMAN	Homo sapiens TNFAIP3 interacting protein 2 (TNIP2), transcript variant 1, mRNA.	283						cytosol	protein binding	p.L282P(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTGGAGGCCGCCAGCTCCTG	0.607													A	2746482	G	A	2746482	3	1	4	1	0	0	0	0	1	0	0	0	16312	1087	38	1	453	1	TNIP2	4	2746482	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1419884	2746482	188407794	1023	3088											
MFSD10	10227	broad.mit.edu	37	chr4	2933648	2933648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagactaggcccaggcggCgcaggctgctgagccctggg	17	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:2933648C>T	uc003gfw.3	-	6	1132	c.818G>A	c.(817-819)cGc>cAc	p.R273H	MFSD10_uc021xks.1_Missense_Mutation_p.R197H|MFSD10_uc003gfz.3_Missense_Mutation_p.R273H|NOP14-AS1_uc003ggd.1_5'Flank|NOP14-AS1_uc003gge.1_5'Flank	NM_001120	NP_001139541	Q14728	MFS10_HUMAN	Homo sapiens major facilitator superfamily domain containing 10 (MFSD10), transcript variant 1, mRNA.	273					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCCAGGCGGCGCAGGCTGCT	0.662													T	2933648	C	T	2933648	3	4	4	1	0	0	0	0	1	0	0	0	9528	768	27	1	573	1	MFSD10	4	2933648	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	187166	2933648	188220628	1024	3089											
MFSD10	10227	broad.mit.edu	37	chr4	2933868	2933868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatcacggaaccccagggCgatagagggcgcctgtgggg	17	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:2933868C>T	uc003gfw.3	-	5	1020	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	MFSD10_uc021xks.1_Missense_Mutation_p.A160T|MFSD10_uc003gfz.3_Missense_Mutation_p.A236T|NOP14-AS1_uc003ggd.1_5'Flank|NOP14-AS1_uc003gge.1_5'Flank	NM_001120	NP_001139541	Q14728	MFS10_HUMAN	Homo sapiens major facilitator superfamily domain containing 10 (MFSD10), transcript variant 1, mRNA.	236					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AACCCCAGGGCGATAGAGGGC	0.662													T	2933868	C	T	2933868	3	4	4	1	0	0	0	0	1	0	0	0	9528	768	27	1	689	1	MFSD10	4	2933868	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	220	2933868	188220408	1025	3090											
MFSD10	10227	broad.mit.edu	37	chr4	2934476	2934476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagactgcatatgaggtggCcacacccatctgcccagggg	12	14	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:2934476C>T	uc003gfw.3	-	3	696	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	MFSD10_uc021xks.1_Missense_Mutation_p.A52T|MFSD10_uc003gfz.3_Missense_Mutation_p.A128T|NOP14-AS1_uc003ggd.1_5'Flank|NOP14-AS1_uc003gge.1_5'Flank|NOP14-AS1_uc003ggg.1_5'Flank|NOP14-AS1_uc003ggh.3_5'Flank	NM_001120	NP_001139541	Q14728	MFS10_HUMAN	Homo sapiens major facilitator superfamily domain containing 10 (MFSD10), transcript variant 1, mRNA.	128					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TATGAGGTGGCCACACCCATC	0.642													T	2934476	C	T	2934476	3	4	4	1	0	0	0	0	1	0	0	0	9528	739	26	2	1021	2	MFSD10	4	2934476	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	608	2934476	188219800	1026	3091											
RGS12	6002	broad.mit.edu	37	chr4	3318578	3318578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggatgcaagtattttaaaCgtggcgatgatcgtgggcta	13	5	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:3318578C>T	uc003ggw.3	+	1	1585	c.681C>T	c.(679-681)aaC>aaT	p.N227N	RGS12_uc003ggu.2_Silent_p.N227N|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Silent_p.N227N|RGS12_uc003ggx.1_Silent_p.N227N	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	227						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTATTTTAAACGTGGCGATGA	0.468													T	3318578	C	T	3318578	2	4	4	1	0	0	0	0	0	0	0	1	13295	535	19	1		1	RGS12	4	3318578	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	384102	3318578	187835698	1027	3092											
RGS12	6002	broad.mit.edu	37	chr4	3319346	3319346	+	Frame_Shift_Del	DEL	C	C	-													tgtccggaccccgaagggagCcccccatttgaggccgctca							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:3319345_3319345GC>G	uc003ggw.3	+	1	2352	c.1448_1448GC>G	c.(1447-1449)agcfs	p.S483fs	RGS12_uc003ggu.2_Frame_Shift_Del_p.S483fs|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Frame_Shift_Del_p.S483fs|RGS12_uc003ggx.1_Frame_Shift_Del_p.S483fs	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	483						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCCGAAGGGAGCCCCCCATTT	0.682													-	3319346	C	-	3319346	7	5	4	1	0	1	0	1	0	0	0	0	13295	738	26	0	1451	0	RGS12	4	3319346	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	768	3319346	187834930	1028	3093											
LRPAP1	4043	broad.mit.edu	37	chr4	3519827	3519827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccctggttgatgctgcGcagcttctccttcagctccg	11	15	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:3519827G>A	uc003ghh.4	-	4	770	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C		NM_002337	NP_002328	P30533	AMRP_HUMAN	Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.	229					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TTGATGCTGCGCAGCTTCTCC	0.627													A	3519827	G	A	3519827	3	1	4	1	0	0	0	0	1	0	0	0	8964	1087	38	1	404	1	LRPAP1	4	3519827	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	200481	3519827	187634449	1029	3094											
D4S234E	27065	broad.mit.edu	37	chr4	4419079	4419079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccaagcagagcatcacgCgctccgtatcgccctggatg	12	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:4419079C>T	uc011bvz.2	+	7	1756	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	D4S234E_uc011bwa.1_Missense_Mutation_p.R120C|D4S234E_uc003ghz.3_Missense_Mutation_p.R159C|D4S234E_uc003gia.3_Missense_Mutation_p.R159C	NM_014392	NP_055207	P42857	NSG1_HUMAN	Homo sapiens DNA segment on chromosome 4 (unique) 234 expressed sequence (D4S234E), transcript variant 1, mRNA.	159					dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		GAGCATCACGCGCTCCGTATC	0.547													T	4419079	C	T	4419079	3	4	4	1	0	0	0	0	1	0	0	0	4214	768	27	1	489	1	D4S234E	4	4419079	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	899252	4419079	186735197	1030	3095											
STK32B	55351	broad.mit.edu	37	chr4	5458606	5458606	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggtggagcgtgtccacTactcctccacgtggtgcaag	12	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:5458606T>C	uc003gih.1	+	7	803	c.739T>C	c.(739-741)Tac>Cac	p.Y247H	STK32B_uc010ida.1_Missense_Mutation_p.Y200H	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	Homo sapiens serine/threonine kinase 32B (STK32B), mRNA.	247	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GCGTGTCCACTACTCCTCCAC	0.567													C	5458606	T	C	5458606	3	2	4	1	0	0	0	0	1	0	0	0	15297	1522	53	3	769	3	STK32B	4	5458606	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1039527	5458606	185695670	1031	3096											
C4orf6	10141	broad.mit.edu	37	chr4	5527158	5527158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttgggaaggaaggaacacGcaaaaatttttaccttcttc	8	7	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:5527158G>A	uc003gii.3	+	0	276	c.101G>A	c.(100-102)cGc>cAc	p.R34H		NM_005750	NP_005741	Q99440	CD006_HUMAN	Homo sapiens chromosome 4 open reading frame 6 (C4orf6), mRNA.	34					nervous system development					large_intestine(1)|prostate(1)	2						gaaggaacacgcaaaaatttt	0.363													A	5527158	G	A	5527158	3	1	4	1	0	0	0	0	1	0	0	0	2278	1087	38	1	103	1	C4orf6	4	5527158	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	68552	5527158	185627118	1032	3097											
EVC	2121	broad.mit.edu	37	chr4	5803721	5803721	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagcgtctacgtgaccagCgctggtgtcagccgcctggt	15	12	2	2	rs138114051		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:5803721C>T	uc003gil.1	+	15	2533	c.2349C>T	c.(2347-2349)agC>agT	p.S783S	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	783					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACGTGACCAGCGCTGGTGTCA	0.592													T	5803721	C	T	5803721	2	4	4	1	0	0	0	0	0	0	0	1	5285	767	27	1		1	EVC	4	5803721	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	276563	5803721	185350555	1033	3098											
CRMP1	1400	broad.mit.edu	37	chr4	5838577	5838577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagttgtccttgcccaccGccttctgggcagtgctgtag	11	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:5838577G>A	uc003gis.3	-	9	1456	c.1367C>T	c.(1366-1368)gCg>gTg	p.A456V	CRMP1_uc003giq.3_Missense_Mutation_p.A342V|CRMP1_uc003gir.3_Missense_Mutation_p.A337V	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA.	342					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CTTGCCCACCGCCTTCTGGGC	0.577													A	5838577	G	A	5838577	3	1	4	1	0	0	0	0	1	0	0	0	3890	1087	38	1	713	1	CRMP1	4	5838577	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	34856	5838577	185315699	1034	3099											
PPP2R2C	5522	broad.mit.edu	37	chr4	6374363	6374363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgatgtggtaggtgtggCcattggcaaagatcctccga	14	7	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:6374363C>T	uc003gja.3	-	4	536	c.512G>A	c.(511-513)gGc>gAc	p.G171D	PPP2R2C_uc003gjb.3_Missense_Mutation_p.G154D|PPP2R2C_uc003gjc.3_Missense_Mutation_p.G171D|PPP2R2C_uc011bwd.2_Missense_Mutation_p.G164D|PPP2R2C_uc011bwe.2_Missense_Mutation_p.G164D|PPP2R2C_uc003gjd.1_Missense_Mutation_p.G259D	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA.	171					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						GTAGGTGTGGCCATTGGCAAA	0.587													T	6374363	C	T	6374363	3	4	4	1	0	0	0	0	1	0	0	0	12386	739	26	2	851	2	PPP2R2C	4	6374363	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	535786	6374363	184779913	1035	3100											
MAN2B2	23324	broad.mit.edu	37	chr4	6598914	6598916	+	In_Frame_Del	DEL	TTG	TTG	-													tggcccggcgagccagcgccTtgttgtatgccggggagtcc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:6598913_6598915CTTG>C	uc003gjf.1	+	7	1167_1169	c.1131_1133CTTG>C	c.(1129-1134)gccttg>gcCg	p.L379del	MAN2B2_uc003gje.1_In_Frame_Del_p.L379del|MAN2B2_uc011bwf.1_In_Frame_Del_p.L328del	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	379					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GAGCCAGCGCCTTGTTGTATGCC	0.66													-	6598916	TTG	-	6598914	7	5	4	1	0	1	0	1	0	0	0	0	9217	1606	56	0	1162	0	MAN2B2	4	6598914	In_Frame_Del	DEL	TTG	TCGA-BR-4184-01A-01D-1126-08	224551	6598914	184555362	1036	3101											
MAN2B2	23324	broad.mit.edu	37	chr4	6612965	6612965	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccagaggagcgcactggcGctgcagcacaggcccgtggt	16	14	0	1	rs138297924	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:6612965G>A	uc003gjf.1	+	14	2559	c.2523G>A	c.(2521-2523)gcG>gcA	p.A841A	MAN2B2_uc003gje.1_Silent_p.A841A|MAN2B2_uc011bwf.1_Silent_p.A790A	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	841					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GCGCACTGGCGCTGCAGCACA	0.637													A	6612965	G	A	6612965	2	1	4	1	0	0	0	0	0	0	0	1	9217	1074	38	1		1	MAN2B2	4	6612965	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	14051	6612965	184541311	1037	3102											
TADA2B	93624	broad.mit.edu	37	chr4	7056185	7056185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagcggcggaagaacatcGcccgtgactacaatctggtg	13	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:7056185G>A	uc003gjw.4	+	1	818	c.667G>A	c.(667-669)Gcc>Acc	p.A223T	TADA2B_uc010idi.3_Missense_Mutation_p.A148T|TADA2B_uc021xle.1_Missense_Mutation_p.A131T	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	Homo sapiens transcriptional adaptor 2B (TADA2B), mRNA.	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GAAGAACATCGCCCGTGACTA	0.567													A	7056185	G	A	7056185	3	1	4	1	0	0	0	0	1	0	0	0	15508	1087	38	1	673	1	TADA2B	4	7056185	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	443220	7056185	184098091	1038	3103											
AFAP1	60312	broad.mit.edu	37	chr4	7873806	7873806	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaactattaactcttccatTgctgacaacaaaagaggaag	6	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:7873806T>C	uc011bwk.1	-	2	272	c.-1_splice	c.e2-1		AFAP1_uc003gkg.1_Splice_Site	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.							actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						ACTCTTCCATTGCTGACAACA	0.378													C	7873806	T	C	7873806	5	2	4	1	0	0	0	0	0	0	1	0	353	1826	63	3	2512	3	AFAP1	4	7873806	Splice_Site	SNP	T	TCGA-BR-4184-01A-01D-1126-08	817621	7873806	183280470	1039	3104											
ABLIM2	84448	broad.mit.edu	37	chr4	8010821	8010821	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatcctccccatccgatcGcctggcagctggaagggaaa	10	15	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:8010821G>A	uc003gko.3	-	13	1476	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*	ABLIM2_uc003gkk.3_Nonsense_Mutation_p.R108*|ABLIM2_uc003gkl.3_Nonsense_Mutation_p.R172*|ABLIM2_uc003gkm.4_Nonsense_Mutation_p.R393*|ABLIM2_uc003gkp.3_Nonsense_Mutation_p.R404*|ABLIM2_uc003gkq.3_Nonsense_Mutation_p.R445*|ABLIM2_uc003gkr.3_Nonsense_Mutation_p.R393*|ABLIM2_uc003gkj.4_Nonsense_Mutation_p.R478*|ABLIM2_uc003gks.3_Nonsense_Mutation_p.R404*	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	445					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CCATCCGATCGCCTGGCAGCT	0.483													A	8010821	G	A	8010821	4	1	4	1	0	0	0	0	0	1	0	0	95	1095	38	1	550	1	ABLIM2	4	8010821	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	137015	8010821	183143455	1040	3105											
SH3TC1	54436	broad.mit.edu	37	chr4	8230088	8230088	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagagctactaccgcgcCctgcgggtggctcgggacct	15	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:8230088C>T	uc003gkv.4	+	11	2768	c.2667C>T	c.(2665-2667)gcC>gcT	p.A889A	SH3TC1_uc003gkw.4_Silent_p.A813A|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	889							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						ACTACCGCGCCCTGCGGGTGG	0.697													T	8230088	C	T	8230088	2	4	4	1	0	0	0	0	0	0	0	1	14261	610	22	4		4	SH3TC1	4	8230088	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	219267	8230088	182924188	1041	3106											
SH3TC1	54436	broad.mit.edu	37	chr4	8233879	8233879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctacctgtccctgggcaccGagcggtgagggctggctctg	15	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:8233879G>A	uc003gkv.4	+	12	3228	c.3127G>A	c.(3127-3129)Gag>Aag	p.E1043K	SH3TC1_uc003gkw.4_Missense_Mutation_p.E967K|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	1043							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCTGGGCACCGAGCGGTGAGG	0.726													A	8233879	G	A	8233879	3	1	4	1	0	0	0	0	1	0	0	0	14261	1059	37	1	3173	1	SH3TC1	4	8233879	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3791	8233879	182920397	1042	3107											
ACOX3	8310	broad.mit.edu	37	chr4	8368787	8368787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctttcctgcaggacagcGccccagaggtttttgtagag	12	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:8368787G>A	uc010idk.3	-	17	2149	c.2004C>T	c.(2002-2004)ggC>ggT	p.G668G	ACOX3_uc003glc.4_Silent_p.G668G|ACOX3_uc003gld.4_3'UTR	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	668					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.G668C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCAGGACAGCGCCCCAGAGGT	0.478													A	8368787	G	A	8368787	2	1	4	1	0	0	0	0	0	0	0	1	160	1074	38	1		1	ACOX3	4	8368787	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	134908	8368787	182785489	1043	3108											
ACOX3	8310	broad.mit.edu	37	chr4	8398744	8398744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggctgagaagcgaagagCgatggccacggccagcttta	15	9	0	2	rs116281866	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:8398744C>T	uc010idk.3	-	8	1121	c.976G>A	c.(976-978)Gct>Act	p.A326T	ACOX3_uc003glc.4_Missense_Mutation_p.A326T|ACOX3_uc003gld.4_Missense_Mutation_p.A326T	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	326					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						AAGCGAAGAGCGATGGCCACG	0.587													T	8398744	C	T	8398744	3	4	4	1	0	0	0	0	1	0	0	0	160	768	27	1	1166	1	ACOX3	4	8398744	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	29957	8398744	182755532	1044	3109											
ACOX3	8310	broad.mit.edu	37	chr4	8416072	8416072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggccttggtattactgcCgtggcttaattcggtcagag	12	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:8416072C>T	uc010idk.3	-	4	635	c.490G>A	c.(490-492)Ggc>Agc	p.G164S	ACOX3_uc003glc.4_Missense_Mutation_p.G164S|ACOX3_uc003gld.4_Missense_Mutation_p.G164S	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	164					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GTATTACTGCCGTGGCTTAAT	0.463													T	8416072	C	T	8416072	3	4	4	1	0	0	0	0	1	0	0	0	160	652	23	1	1668	1	ACOX3	4	8416072	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	17328	8416072	182738204	1045	3110											
DRD5	1816	broad.mit.edu	37	chr4	9784507	9784507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgcccgacaccagcctgcGcgcttccatcaagaaggaga	11	16	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:9784507G>A	uc003gmb.4	+	0	1250	c.854G>A	c.(853-855)cGc>cAc	p.R285H		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	285					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ACCAGCCTGCGCGCTTCCATC	0.627													A	9784507	G	A	9784507	3	1	4	1	0	0	0	0	1	0	0	0	4760	1087	38	1	856	1	DRD5	4	9784507	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1368435	9784507	181369769	1046	3111											
HS3ST1	9957	broad.mit.edu	37	chr4	11401090	11401090	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacattgagcctgccatcGcgcaccaggaactcctcgat	8	16	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:11401090G>A	uc003gmq.3	-	1	863	c.540C>T	c.(538-540)cgC>cgT	p.R180R	HS3ST1_uc021xmg.1_Silent_p.R180R	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	180						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCCTGCCATCGCGCACCAGGA	0.587													A	11401090	G	A	11401090	2	1	4	1	0	0	0	0	0	0	0	1	7363	1074	38	1		1	HS3ST1	4	11401090	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1616583	11401090	179753186	1047	3112											
CC2D2A	57545	broad.mit.edu	37	chr4	15529197	15529197	+	Frame_Shift_Del	DEL	T	T	-													ctgttttagccgagagcatgTtttggcagccaagctggccc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:15529196_15529196GT>G	uc010idv.2	+	12	1521	c.1276_1276GT>G	c.(1276-1278)gttfs	p.V426fs	CC2D2A_uc003gnx.3_Frame_Shift_Del_p.V377fs|CC2D2A_uc003gnv.2_Frame_Shift_Del_p.V426fs	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2A (CC2D2A), transcript variant 1, mRNA.	426					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CCGAGAGCATGTTTTGGCAGC	0.438													-	15529197	T	-	15529197	7	5	4	1	0	1	0	1	0	0	0	0	2728	1725	60	0	1522	0	CC2D2A	4	15529197	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	4128107	15529197	175625079	1048	3113											
LAP3	51056	broad.mit.edu	37	chr4	17586688	17586688	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgccagccaatgagatgacGccaaccagatttgctgaaat	9	11	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:17586688G>A	uc003gph.1	+	5	795	c.633G>A	c.(631-633)acG>acA	p.T211T	LAP3_uc010ieg.3_3'UTR	NM_015907	NP_056991	P28838	AMPL_HUMAN	Homo sapiens leucine aminopeptidase 3 (LAP3), mRNA.	211					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						ATGAGATGACGCCAACCAGAT	0.488													A	17586688	G	A	17586688	2	1	4	1	0	0	0	0	0	0	0	1	8623	1074	38	1		1	LAP3	4	17586688	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2057491	17586688	173567588	1049	3114											
SLIT2	9353	broad.mit.edu	37	chr4	20570602	20570602	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggcattaataactacacAtgcctttgcccacctgagta	7	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:20570602A>G	uc003gpr.1	+	28	3267	c.3063A>G	c.(3061-3063)acA>acG	p.T1021T	SLIT2_uc003gps.1_Silent_p.T1013T	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1021	EGF-like 3; calcium-binding (Potential).				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATAACTACACATGCCTTTGCC	0.333													G	20570602	A	G	20570602	2	3	4	1	0	0	0	0	0	0	0	1	14740	204	8	3		3	SLIT2	4	20570602	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	2983914	20570602	170583674	1050	3115											
SLIT2	9353	broad.mit.edu	37	chr4	20597356	20597356	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtacgtaggtgaacactgCgacatcgattttgacgactg	13	8	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:20597356C>T	uc003gpr.1	+	30	3423	c.3219C>T	c.(3217-3219)tgC>tgT	p.C1073C	SLIT2_uc003gps.1_Silent_p.C1065C	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1073	EGF-like 4.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTGAACACTGCGACATCGATT	0.463													T	20597356	C	T	20597356	2	4	4	1	0	0	0	0	0	0	0	1	14740	776	27	1		1	SLIT2	4	20597356	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	26754	20597356	170556920	1051	3116											
PI4K2B	55300	broad.mit.edu	37	chr4	25270822	25270822	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatgtctgtgatgaggggTcaggtaagttacctttttat	12	5	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:25270822T>C	uc003grk.2	+	8	1402	c.1269T>C	c.(1267-1269)ggT>ggC	p.G423G	PI4K2B_uc011bxs.2_Silent_p.G327G	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 beta (PI4K2B), mRNA.	423	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				TGATGAGGGGTCAGGTAAGTT	0.333													C	25270822	T	C	25270822	2	2	4	1	0	0	0	0	0	0	0	1	11872	1654	58	3		3	PI4K2B	4	25270822	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	4673466	25270822	165883454	1052	3117											
RBPJ	3516	broad.mit.edu	37	chr4	26407807	26407807	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtttttagggaagctatgCgaaattatttaaaagagcga	10	3	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:26407807C>T	uc003grx.2	+	3	345	c.109C>T	c.(109-111)Cga>Tga	p.R37*	RBPJ_uc003gry.2_Nonsense_Mutation_p.R22*|RBPJ_uc003grz.2_Nonsense_Mutation_p.R37*|RBPJ_uc011bxt.2_Nonsense_Mutation_p.R37*|RBPJ_uc003gsa.2_Nonsense_Mutation_p.R23*|RBPJ_uc003gsb.2_Nonsense_Mutation_p.R24*	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	37					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GGAAGCTATGCGAAATTATTT	0.323													T	26407807	C	T	26407807	4	4	4	1	0	0	0	0	0	1	0	0	13161	760	27	1	182	1	RBPJ	4	26407807	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1136985	26407807	164746469	1053	3118											
RBPJ	3516	broad.mit.edu	37	chr4	26431567	26431567	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagagatgataaatgatggCgcttcctggacaatcattag	10	6	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:26431567C>T	uc003grx.2	+	9	1211	c.975C>T	c.(973-975)ggC>ggT	p.G325G	RBPJ_uc003gry.2_Silent_p.G310G|RBPJ_uc003grz.2_Silent_p.G325G|RBPJ_uc011bxt.2_Silent_p.G325G|RBPJ_uc003gsa.2_Silent_p.G311G|RBPJ_uc003gsb.2_Silent_p.G312G	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	325					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TAAATGATGGCGCTTCCTGGA	0.403													T	26431567	C	T	26431567	2	4	4	1	0	0	0	0	0	0	0	1	13161	755	27	1		1	RBPJ	4	26431567	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	23760	26431567	164722709	1054	3119											
STIM2	57620	broad.mit.edu	37	chr4	27019446	27019446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctcagcttgctccacacGccccccacccgtcacaccct	6	22	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:27019446G>A	uc003gsg.4	+	10	2131	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T	STIM2_uc003gsh.4_Missense_Mutation_p.A543T|STIM2_uc010iex.3_Missense_Mutation_p.A535T|STIM2_uc010iey.3_Missense_Mutation_p.A246T	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	Homo sapiens stromal interaction molecule 2 (STIM2), transcript variant 2, mRNA.	535	His/Pro-rich.				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TGCTCCACACGCCCCCCACCC	0.622													A	27019446	G	A	27019446	3	1	4	1	0	0	0	0	1	0	0	0	15283	1087	38	1	1673	1	STIM2	4	27019446	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	587879	27019446	164134830	1055	3120											
PCDH7	5099	broad.mit.edu	37	chr4	30723444	30723444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagggtcaggtcatcgtgCttgacatcaacgacaacacg	11	10	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:30723444C>T	uc003gsk.1	+	0	1408	c.400C>T	c.(400-402)Ctt>Ttt	p.L134F	PCDH7_uc011bxx.2_Missense_Mutation_p.L134F|PCDH7_uc021xnd.1_Missense_Mutation_p.L134F|PCDH7_uc021xnc.1_Missense_Mutation_p.L134F	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	134	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGTCATCGTGCTTGACATCAA	0.612													T	30723444	C	T	30723444	3	4	4	1	0	0	0	0	1	0	0	0	11516	797	28	2	402	2	PCDH7	4	30723444	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3703998	30723444	160430832	1056	3121											
PCDH7	5099	broad.mit.edu	37	chr4	30724207	30724207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcttcacggtcatggcccGcgaccgcgggcagcccccca	13	19	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:30724207G>A	uc003gsk.1	+	0	2171	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	PCDH7_uc011bxx.2_Missense_Mutation_p.R388H|PCDH7_uc021xnd.1_Missense_Mutation_p.R388H|PCDH7_uc021xnc.1_Missense_Mutation_p.R388H	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	388	Cadherin 3.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.E387K(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GTCATGGCCCGCGACCGCGGG	0.642													A	30724207	G	A	30724207	3	1	4	1	0	0	0	0	1	0	0	0	11516	1087	38	1	1165	1	PCDH7	4	30724207	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	763	30724207	160430069	1057	3122											
PCDH7	5099	broad.mit.edu	37	chr4	30724342	30724342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacggggtggccaacgtggCcgaggacgttctggtcgaca	18	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:30724342C>T	uc003gsk.1	+	0	2306	c.1298C>T	c.(1297-1299)gCc>gTc	p.A433V	PCDH7_uc011bxx.2_Missense_Mutation_p.A433V|PCDH7_uc021xnd.1_Missense_Mutation_p.A433V|PCDH7_uc021xnc.1_Missense_Mutation_p.A433V	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	433	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCCAACGTGGCCGAGGACGTT	0.622													T	30724342	C	T	30724342	3	4	4	1	0	0	0	0	1	0	0	0	11516	739	26	2	1300	2	PCDH7	4	30724342	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	135	30724342	160429934	1058	3123											
PCDH7	5099	broad.mit.edu	37	chr4	30725052	30725052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggatgctgacaaggggCggaatgcagagatgagcctg	17	6	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:30725052C>T	uc003gsk.1	+	0	3016	c.2008C>T	c.(2008-2010)Cgg>Tgg	p.R670W	PCDH7_uc011bxx.2_Missense_Mutation_p.R670W|PCDH7_uc021xnd.1_Missense_Mutation_p.R670W|PCDH7_uc021xnc.1_Missense_Mutation_p.R670W	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	670	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TGACAAGGGGCGGAATGCAGA	0.463													T	30725052	C	T	30725052	3	4	4	1	0	0	0	0	1	0	0	0	11516	759	27	1	2010	1	PCDH7	4	30725052	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	710	30725052	160429224	1059	3124											
PCDH7	5099	broad.mit.edu	37	chr4	30732378	30732378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattttccttctttcagatgCgtctacatccatacattact	3	11	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:30732378C>T	uc003gsk.1	+	1	4186	c.3178C>T	c.(3178-3180)Cgt>Tgt	p.R1060C	PCDH7_uc011bxx.2_Intron|PCDH7_uc021xnd.1_Intron	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	1060					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CTTTCAGATGCGTCTACATCC	0.373													T	30732378	C	T	30732378	3	4	4	1	0	0	0	0	1	0	0	0	11516	768	27	1	3229	1	PCDH7	4	30732378	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	7326	30732378	160421898	1060	3125											
ARAP2	116984	broad.mit.edu	37	chr4	36085059	36085059	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgagagaaaacatcttgTcatgtttactactctgtaag	7	7	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:36085059T>C	uc003gsq.2	-	28	4777	c.4439A>G	c.(4438-4440)gAc>gGc	p.D1480G		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1480	PH 5.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AAACATCTTGTCATGTTTACT	0.313													C	36085059	T	C	36085059	3	2	4	1	0	0	0	0	1	0	0	0	839	1667	58	3	695	3	ARAP2	4	36085059	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	5352681	36085059	155069217	1061	3126											
ARAP2	116984	broad.mit.edu	37	chr4	36179566	36179566	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaacaacagcttgagactgCgaggtaagggattgtgattt	13	5	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:36179566C>T	uc003gsq.2	-	8	2078	c.1740G>A	c.(1738-1740)tcG>tcA	p.S580S	ARAP2_uc003gsr.1_Silent_p.S580S	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	580					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CTTGAGACTGCGAGGTAAGGG	0.378													T	36179566	C	T	36179566	2	4	4	1	0	0	0	0	0	0	0	1	839	755	27	1		1	ARAP2	4	36179566	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	94507	36179566	154974710	1062	3127											
RELL1	768211	broad.mit.edu	37	chr4	37651073	37651073	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccagtatcgttgctgggCgacggggtcgtctctgttct	13	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:37651073C>T	uc003gsz.2	-	1	228	c.138G>A	c.(136-138)tcG>tcA	p.S46S	RELL1_uc010ifc.3_Silent_p.S46S	NM_001085399	NP_001078869	Q8IUW5	RELL1_HUMAN	Homo sapiens RELT-like 1 (RELL1), transcript variant 2, mRNA.	46						cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						CGTTGCTGGGCGACGGGGTCG	0.502													T	37651073	C	T	37651073	2	4	4	1	0	0	0	0	0	0	0	1	13218	755	27	1		1	RELL1	4	37651073	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1471507	37651073	153503203	1063	3128											
FAM114A1	92689	broad.mit.edu	37	chr4	38907188	38907188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagcaggagccactctacGgattcatggtgtaaattctg	10	8	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:38907188G>A	uc003gtn.3	+	4	741	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	FAM114A1_uc011byh.2_5'UTR	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	Homo sapiens family with sequence similarity 114, member A1 (FAM114A1), transcript variant 1, mRNA.	161						cytoplasm		p.L160V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						GCCACTCTACGGATTCATGGT	0.443													A	38907188	G	A	38907188	3	1	4	1	0	0	0	0	1	0	0	0	5403	1116	39	1	492	1	FAM114A1	4	38907188	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1256115	38907188	152247088	1064	3129											
WDR19	57728	broad.mit.edu	37	chr4	39278679	39278679	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagaagaggccacgactccAtgtccattctgcaaatttct	7	11	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:39278679A>G	uc003gtv.3	+	33	3910	c.3756A>G	c.(3754-3756)ccA>ccG	p.P1252P	WDR19_uc011byi.2_Silent_p.P1092P	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	1252					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CCACGACTCCATGTCCATTCT	0.423													G	39278679	A	G	39278679	2	3	4	1	0	0	0	0	0	0	0	1	17276	204	8	3		3	WDR19	4	39278679	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	371491	39278679	151875597	1065	3130											
RFC1	5981	broad.mit.edu	37	chr4	39290444	39290444	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttttctggttttgaaggCtttgaagattttgtcttttt	8	4	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:39290444C>T	uc003gty.2	-	24	3524	c.3384G>A	c.(3382-3384)aaG>aaA	p.K1128K	RFC1_uc003gtx.2_Silent_p.K1127K	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	1128					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GTTTTGAAGGCTTTGAAGATT	0.328													T	39290444	C	T	39290444	2	4	4	1	0	0	0	0	0	0	0	1	13244	796	28	2		2	RFC1	4	39290444	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	11765	39290444	151863832	1066	3131											
PDS5A	23244	broad.mit.edu	37	chr4	39929664	39929664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaacatgctacaaggagacGcacatctttattggggttcc	9	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:39929664G>A	uc003guv.4	-	2	799	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C	PDS5A_uc003guw.4_Missense_Mutation_p.R87C	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	87					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	p.R87C(2)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ACAAGGAGACGCACATCTTTA	0.418													A	39929664	G	A	39929664	3	1	4	1	0	0	0	0	1	0	0	0	11691	1087	38	1	3911	1	PDS5A	4	39929664	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	639220	39929664	151224612	1067	3132											
N4BP2	55728	broad.mit.edu	37	chr4	40104327	40104327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctcctgtagatttggatGccagtgaacctcaggcttgt	11	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:40104327G>A	uc003guy.4	+	3	1200	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	N4BP2_uc010ifq.3_Missense_Mutation_p.A208T|N4BP2_uc010ifr.3_Missense_Mutation_p.A208T	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	288						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGATTTGGATGCCAGTGAACC	0.453													A	40104327	G	A	40104327	3	1	4	1	0	0	0	0	1	0	0	0	10110	1319	46	2	868	2	N4BP2	4	40104327	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	174663	40104327	151049949	1068	3133											
RHOH	399	broad.mit.edu	37	chr4	40245073	40245073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaacctctctgttggtgCgcttcacctccgagaccttc	9	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:40245073C>T	uc003guz.2	+	2	791	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	RHOH_uc021xnp.1_Missense_Mutation_p.R23C	NM_004310	NP_004301	Q15669	RHOH_HUMAN	Homo sapiens ras homolog gene family, member H (RHOH), mRNA.	23					T cell differentiation|negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|Rho GTPase binding|kinase inhibitor activity	p.R23H(1)		kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						TCTGTTGGTGCGCTTCACCTC	0.577													T	40245073	C	T	40245073	3	4	4	1	0	0	0	0	1	0	0	0	13340	768	27	1	69	1	RHOH	4	40245073	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	140746	40245073	150909203	1069	3134											
RBM47	54502	broad.mit.edu	37	chr4	40440533	40440533	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgagctcacgcactgcGcgcttggcctcgtgcttgtg	13	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:40440533G>A	uc003gvc.2	-	3	1088	c.378C>T	c.(376-378)cgC>cgT	p.R126R	RBM47_uc003gvd.2_Silent_p.R126R|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.R88R|RBM47_uc003gvg.1_Silent_p.R126R	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	126	RRM 1.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CACGCACTGCGCGCTTGGCCT	0.647													A	40440533	G	A	40440533	2	1	4	1	0	0	0	0	0	0	0	1	13141	1074	38	1		1	RBM47	4	40440533	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	195460	40440533	150713743	1070	3135											
UCHL1	7345	broad.mit.edu	37	chr4	41266152	41266152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttccggtgaaccatggcGccagttcagaggacaccctg	11	13	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:41266152G>A	uc003gvo.3	+	7	655	c.559G>A	c.(559-561)Gcc>Acc	p.A187T	UCHL1_uc003gvp.3_Missense_Mutation_p.A106T	NM_004181	NP_004172	P09936	UCHL1_HUMAN	Homo sapiens ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) (UCHL1), mRNA.	187					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						GAACCATGGCGCCAGTTCAGA	0.443													A	41266152	G	A	41266152	3	1	4	1	0	0	0	0	1	0	0	0	16917	1087	38	1	589	1	UCHL1	4	41266152	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	825619	41266152	149888124	1071	3136											
LIMCH1	22998	broad.mit.edu	37	chr4	41664914	41664914	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatttccctccagcccccaGctgaagaatgatgtgtcgga	10	12	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:41664914G>A	uc003gvz.4	+	19	3621	c.3204G>A	c.(3202-3204)caG>caA	p.Q1068Q	LIMCH1_uc003gwe.4_Silent_p.Q683Q|LIMCH1_uc003gvu.4_Silent_p.Q683Q|LIMCH1_uc003gvv.4_Silent_p.Q683Q|LIMCH1_uc003gvw.4_Silent_p.Q683Q|LIMCH1_uc003gvx.4_Silent_p.Q671Q|LIMCH1_uc003gvy.4_Silent_p.Q512Q|LIMCH1_uc003gwa.4_Silent_p.Q524Q|LIMCH1_uc011byu.2_Silent_p.Q517Q|LIMCH1_uc003gwc.4_Silent_p.Q529Q|LIMCH1_uc003gwd.4_Silent_p.Q517Q|LIMCH1_uc011byv.2_Silent_p.Q434Q|LIMCH1_uc011byw.2_5'UTR	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	683	LIM zinc-binding.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCAGCCCCCAGCTGAAGAATG	0.473													A	41664914	G	A	41664914	2	1	4	1	0	0	0	0	0	0	0	1	8797	962	34	2		2	LIMCH1	4	41664914	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	398762	41664914	149489362	1072	3137											
LIMCH1	22998	broad.mit.edu	37	chr4	41668613	41668613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccagaacccgaagcaacGctgacatttccatttctgga	7	13	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:41668613G>A	uc003gvz.4	+	20	3744	c.3327G>A	c.(3325-3327)acG>acA	p.T1109T	LIMCH1_uc003gwe.4_Intron|LIMCH1_uc003gvu.4_Silent_p.T724T|LIMCH1_uc003gvv.4_Silent_p.T724T|LIMCH1_uc003gvw.4_Silent_p.T724T|LIMCH1_uc003gvx.4_Silent_p.T712T|LIMCH1_uc003gvy.4_Silent_p.T553T|LIMCH1_uc003gwa.4_Silent_p.T565T|LIMCH1_uc011byu.2_Silent_p.T558T|LIMCH1_uc003gwc.4_Silent_p.T570T|LIMCH1_uc003gwd.4_Silent_p.T558T|LIMCH1_uc011byv.2_Silent_p.T475T|LIMCH1_uc011byw.2_Silent_p.T24T	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	724					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCGAAGCAACGCTGACATTTC	0.403													A	41668613	G	A	41668613	2	1	4	1	0	0	0	0	0	0	0	1	8797	1074	38	1		1	LIMCH1	4	41668613	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3699	41668613	149485663	1073	3138											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984291	41984291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgcagtgctgctcccagCgtcgcggttcttaagtgttc	12	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:41984291C>T	uc003gwk.2	+	0	579	c.482C>T	c.(481-483)gCg>gTg	p.A161V		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 1 (DCAF4L1), mRNA.	161										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						CTGCTCCCAGCGTCGCGGTTC	0.572													T	41984291	C	T	41984291	3	4	4	1	0	0	0	0	1	0	0	0	4271	768	27	1	484	1	DCAF4L1	4	41984291	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	315678	41984291	149169985	1074	3139											
GABRA4	2557	broad.mit.edu	37	chr4	46967169	46967169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctatgaaccagtccatggCggtagcataggacactttgg	12	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:46967169C>T	uc003gxg.3	-	7	1935	c.952G>A	c.(952-954)Gcc>Acc	p.A318T	GABRA4_uc021xnz.1_Missense_Mutation_p.A299T|GABRA4_uc021xoa.1_Missense_Mutation_p.A248T	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	318					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.A318T(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAGTCCATGGCGGTAGCATAG	0.438													T	46967169	C	T	46967169	3	4	4	1	0	0	0	0	1	0	0	0	6163	768	27	1	720	1	GABRA4	4	46967169	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4982878	46967169	144187107	1075	3140											
CNGA1	1259	broad.mit.edu	37	chr4	47939172	47939172	+	Frame_Shift_Del	DEL	T	T	-													gacttctttctcatcaactgTttttttgttggtccacaggt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:47939171_47939171GT>G	uc003gxu.3	-	9	1688	c.1547_1547AC>C	c.(1546-1548)acafs	p.T516fs	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Frame_Shift_Del_p.T447fs	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	447					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CTCATCAACTGTTTTTTTGTT	0.328													-	47939172	T	-	47939172	7	5	4	1	0	1	0	1	0	0	0	0	3596	1725	60	0	737	0	CNGA1	4	47939172	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	972003	47939172	143215104	1076	3141											
TEC	7006	broad.mit.edu	37	chr4	48230566	48230566	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctttgtagtttaagggCgatgtcttctttttctgctg	9	8	4	0	rs143430739	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:48230566C>T	uc003gxz.3	-	1	157	c.66G>A	c.(64-66)tcG>tcA	p.S22S		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	22	PH.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						AGTTTAAGGGCGATGTCTTCT	0.388													T	48230566	C	T	48230566	2	4	4	1	0	0	0	0	0	0	0	1	15739	755	27	1		1	TEC	4	48230566	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	291394	48230566	142923710	1077	3142											
FRYL	285527	broad.mit.edu	37	chr4	48591779	48591779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgtaatcatgtcttcaggCtccttattagacatctgcac	6	11	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:48591779C>T	uc003gyh.1	-	17	2228	c.1623G>A	c.(1621-1623)gaG>gaA	p.E541E	FRYL_uc003gyk.3_Silent_p.E541E	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGTCTTCAGGCTCCTTATTAG	0.398													T	48591779	C	T	48591779	2	4	4	1	0	0	0	0	0	0	0	1	6064	796	28	2		2	FRYL	4	48591779	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	361213	48591779	142562497	1078	3143											
DCUN1D4	23142	broad.mit.edu	37	chr4	52765528	52765528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaacttatttacagatatgCgtttgactttgcacgggtga	9	6	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:52765528C>T	uc011bzo.2	+	7	738	c.731C>T	c.(730-732)gCg>gTg	p.A244V	DCUN1D4_uc003gze.3_Missense_Mutation_p.A200V|DCUN1D4_uc003gzf.3_Missense_Mutation_p.A200V|DCUN1D4_uc011bzn.2_Missense_Mutation_p.A140V|DCUN1D4_uc003gzg.3_Non-coding_Transcript|DCUN1D4_uc003gzh.3_Non-coding_Transcript	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) (DCUN1D4), transcript variant 1, mRNA.	200	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			TACAGATATGCGTTTGACTTT	0.353													T	52765528	C	T	52765528	3	4	4	1	0	0	0	0	1	0	0	0	4316	768	27	1	629	1	DCUN1D4	4	52765528	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4173749	52765528	138388748	1079	3144											
SGCB	6443	broad.mit.edu	37	chr4	52895985	52895985	+	Silent	SNP	G	G	A													tgaaactccatactatcacaGccatttggtccaatgcgaat							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:52895985G>A	uc003gzj.2	-	2	348	c.288C>T	c.(286-288)ggC>ggT	p.G96G	SGCB_uc011bzp.1_Silent_p.G26G	NM_000232	NP_000223	Q16585	SGCB_HUMAN	Homo sapiens sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) (SGCB), mRNA.	96					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TACTATCACAGCCATTTGGTC	0.418													A	52895985	G	A	52895985	2	1	4	1	0	0	0	0	0	0	0	1	14200	958	34	2		2	SGCB	4	52895985	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	130457	52895985	138258291	1080	3145	6	2									
SGCB	6443	broad.mit.edu	37	chr4	52895995	52895995	+	Missense_Mutation	SNP	C	C	T													tactatcacagccatttggtCcaatgcgaatcacggcccaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:52895995C>T	uc003gzj.2	-	2	338	c.278G>A	c.(277-279)gGa>gAa	p.G93E	SGCB_uc011bzp.1_Missense_Mutation_p.G23E	NM_000232	NP_000223	Q16585	SGCB_HUMAN	Homo sapiens sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) (SGCB), mRNA.	93					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GCCATTTGGTCCAATGCGAAT	0.403													T	52895995	C	T	52895995	3	4	4	1	0	0	0	0	1	0	0	0	14200	855	30	4	694	4	SGCB	4	52895995	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	10	52895995	138258281	1081	3146	6	2									
USP46	64854	broad.mit.edu	37	chr4	53494163	53494163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttctttggtgggatgacGccaaccttcttcttctgtgt	9	10	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:53494163G>A	uc003gzn.3	-	2	470	c.285C>T	c.(283-285)ggC>ggT	p.G95G	USP46_uc003gzm.4_Silent_p.G88G|USP46_uc011bzr.2_Silent_p.G72G|USP46_uc011bzs.2_5'UTR	NM_022832	NP_073743	P62068	UBP46_HUMAN	Homo sapiens ubiquitin specific peptidase 46 (USP46), transcript variant 1, mRNA.	95					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			GTGGGATGACGCCAACCTTCT	0.438													A	53494163	G	A	53494163	2	1	4	1	0	0	0	0	0	0	0	1	17074	1074	38	1		1	USP46	4	53494163	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	598168	53494163	137660113	1082	3147											
SCFD2	152579	broad.mit.edu	37	chr4	53773693	53773693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatgtgttcaatatcaacGgaatctggcctctcgggatg	11	9	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:53773693G>A	uc003gzu.3	-	6	1907	c.1773C>T	c.(1771-1773)tcC>tcT	p.S591S	SCFD2_uc010igm.3_Intron	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	Homo sapiens sec1 family domain containing 2 (SCFD2), mRNA.	591					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CAATATCAACGGAATCTGGCC	0.403													A	53773693	G	A	53773693	2	1	4	1	0	0	0	0	0	0	0	1	13890	1103	39	1		1	SCFD2	4	53773693	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	279530	53773693	137380583	1083	3148											
PDGFRA	5156	broad.mit.edu	37	chr4	54306788	54306788	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctccaggtaaaactttttTcatgttttctccatcattgt	4	10	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:54306788T>C	uc011bzt.1	+	12	1292	c.1106T>C	c.(1105-1107)tTc>tCc	p.F369S	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003gzy.3_Intron|PDGFRA_uc011bzu.2_Intron|PDGFRA_uc003gzz.3_Intron|PDGFRA_uc003hab.3_Intron|PDGFRA_uc010ign.3_Intron|FIP1L1_uc003hae.3_Intron	NM_030917	NP_112179	P16234	PGFRA_HUMAN	Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 1, mRNA.	0	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AAAACTTTTTTCATGTTTTCT	0.323			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			C	54306788	T	C	54306788	3	2	4	1	0	0	0	0	1	0	0	0	11661	1798	62	3		3	PDGFRA	4	54306788	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	533095	54306788	136847488	1084	3149											
LNX1	84708	broad.mit.edu	37	chr4	54364904	54364904	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatggaccagtggggtttcGctacctcccaccagcctaat	9	13	0	0	rs138813024		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:54364904G>A	uc003hag.4	-	4	1138	c.882C>T	c.(880-882)agC>agT	p.S294S	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Silent_p.S198S|LNX1_uc003hah.4_Intron	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	294	PDZ 1.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GTGGGGTTTCGCTACCTCCCA	0.488													A	54364904	G	A	54364904	2	1	4	1	0	0	0	0	0	0	0	1	8865	1078	38	1		1	LNX1	4	54364904	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	58116	54364904	136789372	1085	3150											
KIAA1211	57482	broad.mit.edu	37	chr4	57180790	57180790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgggaagagctggaacaGcaggaggcggaggtgcaggg	22	5	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:57180790G>A	uc003hbk.2	+	7	1513	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	KIAA1211_uc010iha.2_Silent_p.Q367Q|KIAA1211_uc011bzz.1_Silent_p.Q284Q|KIAA1211_uc003hbm.1_Silent_p.Q260Q	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	374	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					agctggaacagcaggaggcgg	0.692													A	57180790	G	A	57180790	2	1	4	1	0	0	0	0	0	0	0	1	8215	962	34	2		2	KIAA1211	4	57180790	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2815886	57180790	133973486	1086	3151											
REST	5978	broad.mit.edu	37	chr4	57798266	57798266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacagcaaacacctcaatcGccatttggttaatgtgtact	6	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:57798266G>A	uc003hch.3	+	3	3589	c.3242G>A	c.(3241-3243)cGc>cAc	p.R1081H	REST_uc003hci.3_Missense_Mutation_p.R1081H|REST_uc010ihf.3_Missense_Mutation_p.R755H	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	1081	Interaction with RCOR1.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CACCTCAATCGCCATTTGGTT	0.393													A	57798266	G	A	57798266	3	1	4	1	0	0	0	0	1	0	0	0	13234	1087	38	1	3252	1	REST	4	57798266	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	617476	57798266	133356010	1087	3152											
POLR2B	5431	broad.mit.edu	37	chr4	57889686	57889686	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagaactagcgagacgggCattgtggatcaggttatggt	14	7	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:57889686C>T	uc003hcl.1	+	18	2749	c.2706C>T	c.(2704-2706)ggC>ggT	p.G902G	POLR2B_uc011cae.1_Silent_p.G895G|POLR2B_uc011caf.1_Silent_p.G827G|POLR2B_uc003hcm.1_Silent_p.G395G	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	902					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GCGAGACGGGCATTGTGGATC	0.388													T	57889686	C	T	57889686	2	4	4	1	0	0	0	0	0	0	0	1	12215	697	25	2		2	POLR2B	4	57889686	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	91420	57889686	133264590	1088	3153											
CENPC1	1060	broad.mit.edu	37	chr4	68380247	68380247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcagccggggatattgtgCgttgtttcagagaccctgcc	12	11	2	1	rs139483291	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:68380247C>T	uc003hdd.1	-	7	1172	c.989G>A	c.(988-990)cGc>cAc	p.R330H	CENPC1_uc010ihj.1_Non-coding_Transcript|CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihm.1_Missense_Mutation_p.R330H	NM_001812	NP_001803	Q03188	CENPC_HUMAN	Homo sapiens centromere protein C 1 (CENPC1), mRNA.	330					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			NS(1)|breast(1)|kidney(5)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	23						GGATATTGTGCGTTGTTTCAG	0.388													T	68380247	C	T	68380247	3	4	4	1	0	0	0	0	1	0	0	0	3229	768	27	1	1890	1	CENPC1	4	68380247	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	10490561	68380247	122774029	1089	3154											
YTHDC1	91746	broad.mit.edu	37	chr4	69180004	69180004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgacaacagcttgtgtgCgacgaaggaaatcatccacc	9	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:69180004C>T	uc003hdx.3	-	16	2350	c.1997G>A	c.(1996-1998)cGc>cAc	p.R666H	YTHDC1_uc003hdy.3_Missense_Mutation_p.R648H	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	666	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						AGCTTGTGTGCGACGAAGGAA	0.478													T	69180004	C	T	69180004	3	4	4	1	0	0	0	0	1	0	0	0	17493	768	27	1	190	1	YTHDC1	4	69180004	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	799757	69180004	121974272	1090	3155											
UGT2B15	7366	broad.mit.edu	37	chr4	69512908	69512908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgataaatatcacagttgCcacgcaggccagcaggaatg	11	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:69512908C>T	uc021xow.1	-	5	1665	c.1507G>A	c.(1507-1509)Gca>Aca	p.A503T		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	503					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										ATCACAGTTGCCACGCAGGCC	0.448													T	69512908	C	T	69512908	3	4	4	1	0	0	0	0	1	0	0	0	16955	739	26	2	1706	2	UGT2B15	4	69512908	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	332904	69512908	121641368	1091	3156											
UGT2A3	79799	broad.mit.edu	37	chr4	69817137	69817137	+	Frame_Shift_Del	DEL	A	A	-													aaagttcctcttatttcaacAaaaaaatcatttaattttat							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:69817136_69817136CA>C	uc003hef.2	-	0	374	c.343_343TG>G	c.(343-345)gttfs	p.V115fs	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	115						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTTATTTCAACAAAAAAATCA	0.338													-	69817137	A	-	69817137	7	5	4	1	0	1	0	1	0	0	0	0	16952	127	5	0	1265	0	UGT2A3	4	69817137	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	304229	69817137	121337139	1092	3157											
UGT2B28	54490	broad.mit.edu	37	chr4	70146222	70146222	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattgcattgcaccaggatgGctctgaagtggacttcagtt	12	8	2	1	rs142644303	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:70146222G>T	uc003hej.3	+	0	6	c.4G>T	c.(4-6)Gct>Tct	p.A2S	UGT2B28_uc010ihr.3_Missense_Mutation_p.A2S	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	2					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CACCAGGATGGCTCTGAAGTG	0.408													T	70146222	G	T	70146222	3	4	4	1	0	0	0	0	1	0	0	0	16957	1203	42	5	6	5	UGT2B28	4	70146222	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	329085	70146222	121008054	1093	3158											
UGT2B4	7363	broad.mit.edu	37	chr4	70351060	70351060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatctgcaaacaatggaacGcccaccatagggattccatg	9	11	1	1	rs138447267	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:70351060G>A	uc003hek.4	-	4	1223	c.1176C>T	c.(1174-1176)ggC>ggT	p.G392G	UGT2B4_uc011cap.2_Silent_p.G256G|UGT2B4_uc003hel.4_Intron	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	392					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ACAATGGAACGCCCACCATAG	0.458													A	70351060	G	A	70351060	2	1	4	1	0	0	0	0	0	0	0	1	16958	1074	38	1		1	UGT2B4	4	70351060	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	204838	70351060	120803216	1094	3159											
UGT2B4	7363	broad.mit.edu	37	chr4	70360986	70360986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttggtcacttagttctgaCataacaacaggcacatagga	8	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:70360986C>T	uc003hek.4	-	0	641	c.594G>A	c.(592-594)atG>atA	p.M198I	UGT2B4_uc011cap.2_Missense_Mutation_p.M62I|UGT2B4_uc003hel.4_Missense_Mutation_p.M198I	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	198					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTAGTTCTGACATAACAACAG	0.388													T	70360986	C	T	70360986	3	4	4	1	0	0	0	0	1	0	0	0	16958	478	17	4	1016	4	UGT2B4	4	70360986	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	9926	70360986	120793290	1095	3160											
GC	2638	broad.mit.edu	37	chr4	72631188	72631188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctttcctgaacgcctcaCagatttcatcatttgtgggt	8	10	4	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:72631188C>T	uc010iif.3	-	4	586	c.491G>A	c.(490-492)tGt>tAt	p.C164Y	GC_uc003hge.3_Missense_Mutation_p.C145Y|GC_uc021xpb.1_Missense_Mutation_p.C145Y	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	145	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GAACGCCTCACAGATTTCATC	0.443													T	72631188	C	T	72631188	3	4	4	1	0	0	0	0	1	0	0	0	6282	478	17	4	1026	4	GC	4	72631188	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2270202	72631188	118523088	1096	3161											
NPFFR2	10886	broad.mit.edu	37	chr4	72994441	72994441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttcaccagcctcaagtgGcagcaatcttcattatttcc	5	13	5	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:72994441G>A	uc003hgg.2	+	1	537	c.439G>A	c.(439-441)Gca>Aca	p.A147T	NPFFR2_uc010iig.2_Intron|NPFFR2_uc003hgi.2_Missense_Mutation_p.A48T|NPFFR2_uc003hgh.2_Missense_Mutation_p.A45T	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	147					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GCCTCAAGTGGCAGCAATCTT	0.373													A	72994441	G	A	72994441	3	1	4	1	0	0	0	0	1	0	0	0	10578	1203	42	2	451	2	NPFFR2	4	72994441	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	363253	72994441	118159835	1097	3162											
ANKRD17	26057	broad.mit.edu	37	chr4	73963907	73963907	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagctggtgaatgattgtcaCtcttacgactgctgttgctg	11	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:73963907C>A	uc003hgp.3	-	25	5021	c.4904G>T	c.(4903-4905)aGt>aTt	p.S1635I	ANKRD17_uc003hgo.3_Missense_Mutation_p.S1522I|ANKRD17_uc003hgq.3_Missense_Mutation_p.S1384I|ANKRD17_uc003hgr.3_Missense_Mutation_p.S1634I	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1635	Ser-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGATTGTCACTCTTACGACT	0.463													A	73963907	C	A	73963907	3	1	4	1	0	0	0	0	1	0	0	0	646	565	20	5	2943	5	ANKRD17	4	73963907	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	969466	73963907	117190369	1098	3163											
ANKRD17	26057	broad.mit.edu	37	chr4	74017203	74017203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttttatgctcttgatccgCgcctgcttccaaaagaaatc	7	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:74017203C>T	uc003hgp.3	-	6	1390	c.1273G>A	c.(1273-1275)Gcg>Acg	p.A425T	ANKRD17_uc003hgo.3_Missense_Mutation_p.A312T|ANKRD17_uc003hgq.3_Missense_Mutation_p.A425T|ANKRD17_uc003hgr.3_Missense_Mutation_p.A425T|ANKRD17_uc011cbd.1_Missense_Mutation_p.A54T	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	425					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.A425V(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCTTGATCCGCGCCTGCTTCC	0.333													T	74017203	C	T	74017203	3	4	4	1	0	0	0	0	1	0	0	0	646	768	27	1	6650	1	ANKRD17	4	74017203	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	53296	74017203	117137073	1099	3164											
ALB	213	broad.mit.edu	37	chr4	74280753	74280753	+	Splice_Site	DEL	T	T	-													ttattttcatcttaattaggTttttgtatgaatatgcaaga							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:74280752_74280752GT>G	uc003hgs.4	+	9	1132	c.1059_splice	c.e9-1	p.M353_splice	ALB_uc011cbe.2_Splice_Site_p.M32_splice|ALB_uc003hgw.4_Splice_Site_p.M161_splice|ALB_uc011cbf.2_Splice_Site_p.M243_splice	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	353	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TCTTAATTAGGTTTTTGTATG	0.358													-	74280753	T	-	74280753	8	5	4	1	0	1	0	1	0	0	1	0	486	1739	60	0	1094	0	ALB	4	74280753	Splice_Site	DEL	T	TCGA-BR-4184-01A-01D-1126-08	263550	74280753	116873523	1100	3165											
AFP	174	broad.mit.edu	37	chr4	74313372	74313372	+	Frame_Shift_Del	DEL	A	A	-													taaccaattttcttcaggggAaaaaaatatcttcttggcaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:74313372delA	uc003hgz.1	+	8	1084	c.1037delA	c.(1036-1038)GAAfs	p.E346fs	AFP_uc003hha.1_Frame_Shift_Del_p.E346fs|AFP_uc011cbg.1_Frame_Shift_Del_p.E120fs	NM_001134	NP_001125	P02771	FETA_HUMAN	alpha-fetoprotein precursor	346	Albumin 2.				transport		metal ion binding			ovary(1)	1	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCTTCAGGGGAAAAAAATATC	0.338									Alpha-Fetoprotein_Hereditary_Persistence_of				-	74313372	A	-	74313372	7	5	4	1	0	1	0	1	0	0	0	0	363	246	9	0	1067	0	AFP	4	74313372	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	32619	74313372	116840904	1101	3166											
AFP	174	broad.mit.edu	37	chr4	74318231	74318231	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggccatgcttcagcagCttggtggtggatgaaacata	14	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:74318231C>T	uc003hgz.1	+	11	1589	c.1542C>T	c.(1540-1542)agC>agT	p.S514S	AFP_uc011cbg.1_Silent_p.S288S	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	514	Albumin 3.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTTCAGCAGCTTGGTGGTGG	0.478									Alpha-Fetoprotein, Hereditary Persistence of				T	74318231	C	T	74318231	2	4	4	1	0	0	0	0	0	0	0	1	363	796	28	2		2	AFP	4	74318231	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4859	74318231	116836045	1102	3167											
SHROOM3	57619	broad.mit.edu	37	chr4	77659960	77659960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaccatgcttatctaaggCggagccctgaccagtgcagc	11	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:77659960C>T	uc011cbx.2	+	4	1587	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	SHROOM3_uc011cbz.1_Missense_Mutation_p.R36W|SHROOM3_uc003hkf.1_Missense_Mutation_p.R87W|SHROOM3_uc003hkg.3_5'UTR	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	212					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TTATCTAAGGCGGAGCCCTGA	0.552													T	77659960	C	T	77659960	3	4	4	1	0	0	0	0	1	0	0	0	14295	759	27	1	652	1	SHROOM3	4	77659960	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3341729	77659960	113494316	1103	3168											
CNOT6L	246175	broad.mit.edu	37	chr4	78652648	78652648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccatctgaattagccatcGccacttggttaaattccact	5	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:78652648G>A	uc011ccd.2	-	8	1048	c.917C>T	c.(916-918)gCg>gTg	p.A306V	CNOT6L_uc003hks.3_Missense_Mutation_p.A306V|CNOT6L_uc003hkt.1_Missense_Mutation_p.A149V	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	306					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	p.A306V(1)|p.E305K(1)		kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						ATTAGCCATCGCCACTTGGTT	0.368													A	78652648	G	A	78652648	3	1	4	1	0	0	0	0	1	0	0	0	3623	1087	38	1	766	1	CNOT6L	4	78652648	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	992688	78652648	112501628	1104	3169											
FRAS1	80144	broad.mit.edu	37	chr4	79188442	79188442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgctgtgaggaatgtgtGtctcctgccgggagctgctc	14	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:79188442G>A	uc003hlb.2	+	8	1277	c.837G>A	c.(835-837)gtG>gtA	p.V279V	FRAS1_uc003hkw.3_Silent_p.V279V|FRAS1_uc003hky.1_5'UTR|FRAS1_uc003hkz.3_5'UTR	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	279	VWFC 4.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGGAATGTGTGTCTCCTGCCG	0.582													A	79188442	G	A	79188442	2	1	4	1	0	0	0	0	0	0	0	1	6042	1364	48	4		4	FRAS1	4	79188442	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	535794	79188442	111965834	1105	3170											
BMP2K	55589	broad.mit.edu	37	chr4	79791958	79791958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcactaagacctggaaatgGccctgaaattttattgggtc	11	8	0	2	rs142887199	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:79791958G>A	uc003hlk.3	+	10	1419	c.1253G>A	c.(1252-1254)gGc>gAc	p.G418D	BMP2K_uc010ijl.1_Non-coding_Transcript|BMP2K_uc003hlj.3_Missense_Mutation_p.G418D|BMP2K_uc003hll.3_5'Flank	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	418						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CCTGGAAATGGCCCTGAAATT	0.438													A	79791958	G	A	79791958	3	1	4	1	0	0	0	0	1	0	0	0	1460	1203	42	2	1295	2	BMP2K	4	79791958	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	603516	79791958	111362318	1106	3171											
PAQR3	152559	broad.mit.edu	37	chr4	79841732	79841732	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggacaaggcttgctatgTctgtactgcatgacatacac	9	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:79841732T>C	uc003hlp.1	-	5	1101	c.897A>G	c.(895-897)agA>agG	p.R299R	PAQR3_uc003hlm.3_Non-coding_Transcript|PAQR3_uc003hln.3_Non-coding_Transcript|PAQR3_uc003hlq.1_Silent_p.R181R	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN	Homo sapiens progestin and adipoQ receptor family member III (PAQR3), mRNA.	299	Golgi targeting.					Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						GCTTGCTATGTCTGTACTGCA	0.398													C	79841732	T	C	79841732	2	2	4	1	0	0	0	0	0	0	0	1	11436	1664	58	3		3	PAQR3	4	79841732	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	49774	79841732	111312544	1107	3172											
ANTXR2	118429	broad.mit.edu	37	chr4	80906003	80906003	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggcgggtggtggtggAggatccttaataacctgtca	17	7	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:80906003A>T	uc003hlz.4	-	12	1819	c.1056T>A	c.(1054-1056)ccT>ccA	p.P352P	ANTXR2_uc003hly.4_Silent_p.P352P|ANTXR2_uc003hlx.1_Non-coding_Transcript|ANTXR2_uc010ijn.3_Silent_p.P249P	NM_001145794	NP_001139266	P58335	ANTR2_HUMAN	Homo sapiens anthrax toxin receptor 2 (ANTXR2), transcript variant 2, mRNA.	352	Poly-Pro.					endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						GTGGTGGTGGAGGATCCTTAA	0.343									Juvenile Hyaline Fibromatosis				T	80906003	A	T	80906003	2	4	4	1	0	0	0	0	0	0	0	1	712	291	11	5		5	ANTXR2	4	80906003	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1064271	80906003	110248273	1108	3173											
PRKG2	5593	broad.mit.edu	37	chr4	82061810	82061811	+	Frame_Shift_Ins	INS	-	-	T													agcaaaagcaacattctcatINStttttactttaacctatgta							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:82061809_82061810A>AT	uc003hmh.2	-	10	1434_1435	c.1421_1422T>AT	c.(1420-1422)aatfs	p.N474fs	PRKG2_uc011ccf.1_Frame_Shift_Ins_p.N54fs|PRKG2_uc011ccg.1_Frame_Shift_Ins_p.N54fs|PRKG2_uc011cch.1_Frame_Shift_Ins_p.N445fs	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	474	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CAACATTCTCATTTTTTACTTT	0.342													T	82061811	-	T	82061810	7	5	4	1	0	1	1	0	0	0	0	0	12523	1493	52	0	899	0	PRKG2	4	82061810	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	1155807	82061810	109092466	1109	3174											
HNRPDL	9987	broad.mit.edu	37	chr4	83350541	83350541	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtccgggtcgcggcagcAgcggcggcggagcgttgtat	19	11	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:83350541A>G	uc003hmr.3	-	0	838	c.303T>C	c.(301-303)gcT>gcC	p.A101A	ENOPH1_uc003hmv.3_5'Flank|ENOPH1_uc003hmx.3_5'Flank|HNRPDL_uc003hmq.3_Non-coding_Transcript|HNRPDL_uc003hmt.3_Silent_p.A101A	NM_031372	NP_112740	O14979	HNRDL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein D-like (HNRPDL), transcript variant 2, mRNA.	101					RNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			breast(2)|endometrium(2)|kidney(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Hepatocellular(203;0.114)				TCGCGGCAGCAGCGGCGGCGG	0.637													G	83350541	A	G	83350541	2	3	4	1	0	0	0	0	0	0	0	1	7276	175	7	3		3	HNRPDL	4	83350541	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1288731	83350541	107803735	1110	3175											
ENOPH1	58478	broad.mit.edu	37	chr4	83381193	83381193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggtgagaccaggcaacGcaggattaacagatgatgag	15	6	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:83381193G>A	uc003hmv.3	+	5	963	c.706G>A	c.(706-708)Gca>Aca	p.A236T	ENOPH1_uc003hmx.3_Missense_Mutation_p.A90T	NM_021204	NP_067027	Q9UHY7	ENOPH_HUMAN	Homo sapiens enolase-phosphatase 1 (ENOPH1), mRNA.	236					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity	p.N235N(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						ACCAGGCAACGCAGGATTAAC	0.478													A	83381193	G	A	83381193	3	1	4	1	0	0	0	0	1	0	0	0	5124	1087	38	1	728	1	ENOPH1	4	83381193	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	30652	83381193	107773083	1111	3176											
SCD5	79966	broad.mit.edu	37	chr4	83719512	83719512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcaccagggagtacacgGcccccaagtggagcaagctc	13	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:83719512G>A	uc003hna.2	-	0	499	c.179C>T	c.(178-180)gCc>gTc	p.A60V	SCD5_uc003hnb.4_Missense_Mutation_p.A60V|SCD5_uc003hnc.3_Missense_Mutation_p.A60V	NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN	Homo sapiens stearoyl-CoA desaturase 5 (SCD5), transcript variant 1, mRNA.	60					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GGAGTACACGGCCCCCAAGTG	0.706													A	83719512	G	A	83719512	3	1	4	1	0	0	0	0	1	0	0	0	13887	1203	42	2	1039	2	SCD5	4	83719512	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	338319	83719512	107434764	1112	3177											
THAP9	79725	broad.mit.edu	37	chr4	83838899	83838899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtaccatccattttttaCgtttaattaacaatctgttt	4	7	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:83838899C>T	uc003hnt.2	+	4	1653	c.1534C>T	c.(1534-1536)Cgt>Tgt	p.R512C	THAP9_uc003hns.1_Missense_Mutation_p.R368C|THAP9_uc003hnu.1_Non-coding_Transcript|THAP9_uc003hnv.2_Missense_Mutation_p.R229C	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	Homo sapiens THAP domain containing 9 (THAP9), mRNA.	512							DNA binding|metal ion binding	p.L511fs*5(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				CCATTTTTTACGTTTAATTAA	0.363													T	83838899	C	T	83838899	3	4	4	1	0	0	0	0	1	0	0	0	15848	536	19	1	1552	1	THAP9	4	83838899	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	119387	83838899	107315377	1113	3178											
WDFY3	23001	broad.mit.edu	37	chr4	85701365	85701365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacccttccacatcagaggCcatggccaccaggcccagga	9	16	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:85701365C>T	uc003hpd.3	-	25	4669	c.4261G>A	c.(4261-4263)Gcc>Acc	p.A1421T		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1421						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACATCAGAGGCCATGGCCACC	0.493													T	85701365	C	T	85701365	3	4	4	1	0	0	0	0	1	0	0	0	17267	739	26	2	6491	2	WDFY3	4	85701365	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1862466	85701365	105452911	1114	3179											
WDFY3	23001	broad.mit.edu	37	chr4	85715780	85715780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagaagaatttgctcggcGcacaacagtaagaagtctga	10	9	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:85715780G>A	uc003hpd.3	-	20	3787	c.3379C>T	c.(3379-3381)Cgc>Tgc	p.R1127C		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1127						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTTGCTCGGCGCACAACAGTA	0.448													A	85715780	G	A	85715780	3	1	4	1	0	0	0	0	1	0	0	0	17267	1087	38	1	7393	1	WDFY3	4	85715780	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	14415	85715780	105438496	1115	3180											
MAPK10	5602	broad.mit.edu	37	chr4	87022260	87022260	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggggctctgtaataacgtgtCaccacatatggagtcatcat	10	9	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:87022260C>T	uc003hps.3	-	7	1361	c.675G>A	c.(673-675)gtG>gtA	p.V225V	MAPK10_uc010ikg.3_Silent_p.V187V|MAPK10_uc003hpr.3_Silent_p.V187V|MAPK10_uc003hpt.3_Silent_p.V225V|MAPK10_uc003hpu.3_Silent_p.V225V|MAPK10_uc003hpv.3_Silent_p.V80V|MAPK10_uc003hpn.3_5'Flank|MAPK10_uc011ccw.2_Silent_p.V111V|MAPK10_uc003hpo.3_Silent_p.V80V|MAPK10_uc003hpp.3_Silent_p.V80V	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	225	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		AATAACGTGTCACCACATATG	0.488													T	87022260	C	T	87022260	2	4	4	1	0	0	0	0	0	0	0	1	9272	813	29	4		4	MAPK10	4	87022260	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1306480	87022260	104132016	1116	3181											
PTPN13	5783	broad.mit.edu	37	chr4	87622631	87622631	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaacccatccctggcattgAtgtgctttctaagaagaaga	8	9	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:87622631A>G	uc003hpz.3	+	6	1352	c.872A>G	c.(871-873)gAt>gGt	p.D291G	PTPN13_uc003hpy.3_Missense_Mutation_p.D291G|PTPN13_uc003hqa.3_Missense_Mutation_p.D291G|PTPN13_uc003hqb.3_Missense_Mutation_p.D291G	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	291						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CCTGGCATTGATGTGCTTTCT	0.423													G	87622631	A	G	87622631	3	3	4	1	0	0	0	0	1	0	0	0	12782	333	12	3	894	3	PTPN13	4	87622631	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	600371	87622631	103531645	1117	3182											
PTPN13	5783	broad.mit.edu	37	chr4	87726516	87726516	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaacagatataaaaatataCttccctgtaagttccagttt	5	7	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:87726516C>A	uc003hpz.3	+	43	7219	c.6739C>A	c.(6739-6741)Ctt>Att	p.L2247I	PTPN13_uc003hpy.3_Missense_Mutation_p.L2252I|PTPN13_uc003hqa.3_Missense_Mutation_p.L2228I|PTPN13_uc003hqb.3_Missense_Mutation_p.L2056I|PTPN13_uc003hqc.1_Missense_Mutation_p.L613I	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	2247	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TAAAAATATACTTCCCTGTAA	0.303													A	87726516	C	A	87726516	3	1	4	1	0	0	0	0	1	0	0	0	12782	565	20	5	6924	5	PTPN13	4	87726516	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	103885	87726516	103427760	1118	3183											
C4orf36	132989	broad.mit.edu	37	chr4	87808929	87808929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtcatttagatggaagaGgtcttctcaaaccggctggc	11	9	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:87808929G>A	uc003hqe.4	-	3	651	c.338C>T	c.(337-339)cCt>cTt	p.P113L		NM_144645	NP_653246	Q96KX1	CD036_HUMAN	Homo sapiens chromosome 4 open reading frame 36 (C4orf36), mRNA.	113										breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		AGATGGAAGAGGTCTTCTCAA	0.423													A	87808929	G	A	87808929	3	1	4	1	0	0	0	0	1	0	0	0	2266	1000	35	4	19	4	C4orf36	4	87808929	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	82413	87808929	103345347	1119	3184											
AFF1	4299	broad.mit.edu	37	chr4	88011180	88011180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgacagcaatacatacGcctagtacagctgagccatc	7	13	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:88011180G>A	uc011ccz.2	+	5	1424	c.1149G>A	c.(1147-1149)acG>acA	p.T383T	AFF1_uc003hqh.2_Silent_p.T382T|AFF1_uc011ccy.2_Intron|AFF1_uc003hqj.4_Silent_p.T376T|AFF1_uc003hqk.4_Silent_p.T376T|AFF1_uc011cda.2_Silent_p.T14T	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	376						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CAATACATACGCCTAGTACAG	0.403													A	88011180	G	A	88011180	2	1	4	1	0	0	0	0	0	0	0	1	356	1074	38	1		1	AFF1	4	88011180	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	202251	88011180	103143096	1120	3185											
AFF1	4299	broad.mit.edu	37	chr4	88036259	88036259	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaccaagctgctctcaccGctcagggacactcctccccc	7	20	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:88036259G>A	uc011ccz.2	+	11	2549	c.2274G>A	c.(2272-2274)ccG>ccA	p.P758P	AFF1_uc003hqj.4_Silent_p.P751P|AFF1_uc003hqk.4_Silent_p.P751P|AFF1_uc011cda.2_Silent_p.P389P	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	751						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TGCTCTCACCGCTCAGGGACA	0.617													A	88036259	G	A	88036259	2	1	4	1	0	0	0	0	0	0	0	1	356	1074	38	1		1	AFF1	4	88036259	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	25079	88036259	103118017	1121	3186											
PKD2	5311	broad.mit.edu	37	chr4	88986920	88986920	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctaatttcaggaagggCcatactgatgcagagattga	10	8	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:88986920C>T	uc003hre.3	+	11	2334	c.2247C>T	c.(2245-2247)ggC>ggT	p.G749G	PKD2_uc011cdf.2_Silent_p.G167G|PKD2_uc011cdg.2_Silent_p.G75G|PKD2_uc011cdh.2_5'UTR	NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	749	EF-hand domain.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TCAGGAAGGGCCATACTGATG	0.433													T	88986920	C	T	88986920	2	4	4	1	0	0	0	0	0	0	0	1	11966	726	26	2		2	PKD2	4	88986920	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	950661	88986920	102167356	1122	3187											
ABCG2	9429	broad.mit.edu	37	chr4	89039273	89039273	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccataccagctgattcaaAgtatcccaaggcctcctgag	7	13	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:89039273A>C	uc003hrg.3	-	6	1322	c.829T>G	c.(829-831)Ttt>Gtt	p.F277V	ABCG2_uc003hrh.3_Missense_Mutation_p.F277V|ABCG2_uc003hrf.3_Missense_Mutation_p.F147V	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	277	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	GCTGATTCAAAGTATCCCAAG	0.458													C	89039273	A	C	89039273	3	2	4	1	0	0	0	0	1	0	0	0	69	72	3	5	1178	5	ABCG2	4	89039273	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	52353	89039273	102115003	1123	3188											
HERC6	55008	broad.mit.edu	37	chr4	89358921	89358921	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggatctccatacctgtggAccaaaccaacaagtaagttt	8	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:89358921A>G	uc011cdi.2	+	19	2726	c.2543A>G	c.(2542-2544)gAc>gGc	p.D848G	HERC6_uc011cdj.2_Missense_Mutation_p.D812G|HERC6_uc011cdk.2_Non-coding_Transcript|HERC6_uc011cdl.2_Non-coding_Transcript	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	Homo sapiens hect domain and RLD 6 (HERC6), transcript variant 1, mRNA.	848	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		ATACCTGTGGACCAAACCAAC	0.303													G	89358921	A	G	89358921	3	3	4	1	0	0	0	0	1	0	0	0	7062	275	10	3	2418	3	HERC6	4	89358921	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	319648	89358921	101795355	1124	3189											
GPRIN3	285513	broad.mit.edu	37	chr4	90170134	90170134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggactcctggggggctagCgtgctgtcagagagctccag	16	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:90170134C>T	uc003hsm.1	-	1	1647	c.1128G>A	c.(1126-1128)acG>acA	p.T376T	GPRIN3_uc021xqb.1_Silent_p.T376T	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	376										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GGGGGGCTAGCGTGCTGTCAG	0.557													T	90170134	C	T	90170134	2	4	4	1	0	0	0	0	0	0	0	1	6731	755	27	1		1	GPRIN3	4	90170134	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	811213	90170134	100984142	1125	3190											
PDLIM5	10611	broad.mit.edu	37	chr4	95578591	95578591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaacaggaagtcatcagtgCgttgaaacaaacttggcatg	11	7	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:95578591C>T	uc003hti.3	+	10	1629	c.1478C>T	c.(1477-1479)gCg>gTg	p.A493V	PDLIM5_uc011cdx.1_Missense_Mutation_p.A390V|PDLIM5_uc003htj.3_Missense_Mutation_p.A168V|PDLIM5_uc003htk.3_Missense_Mutation_p.A522V|PDLIM5_uc011cdy.2_Missense_Mutation_p.A371V|PDLIM5_uc003hth.3_Missense_Mutation_p.A384V|PDLIM5_uc003htl.3_Missense_Mutation_p.A168V	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA.	493	LIM zinc-binding 2.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GTCATCAGTGCGTTGAAACAA	0.373													T	95578591	C	T	95578591	3	4	4	1	0	0	0	0	1	0	0	0	11683	768	27	1	1676	1	PDLIM5	4	95578591	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	5408457	95578591	95575685	1126	3191											
TSPAN5	10098	broad.mit.edu	37	chr4	99399869	99399869	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagcaggagaatggaacGccacatcgctctcgacttgc	12	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:99399869G>A	uc003hub.3	-	4	978	c.543C>T	c.(541-543)ggC>ggT	p.G181G	TSPAN5_uc011cdz.2_Silent_p.G110G	NM_005723	NP_005714	P62079	TSN5_HUMAN	Homo sapiens tetraspanin 5 (TSPAN5), mRNA.	181						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		AGAATGGAACGCCACATCGCT	0.493													A	99399869	G	A	99399869	2	1	4	1	0	0	0	0	0	0	0	1	16647	1074	38	1		1	TSPAN5	4	99399869	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3821278	99399869	91754407	1127	3192											
TSPAN5	10098	broad.mit.edu	37	chr4	99407956	99407956	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaatcccaaaatgaacatcActcctcccaccacaaggaag	4	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:99407956A>G	uc003hub.3	-	2	647	c.212T>C	c.(211-213)gTg>gCg	p.V71A	TSPAN5_uc011cdz.2_5'UTR	NM_005723	NP_005714	P62079	TSN5_HUMAN	Homo sapiens tetraspanin 5 (TSPAN5), mRNA.	71						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		AATGAACATCACTCCTCCCAC	0.483													G	99407956	A	G	99407956	3	3	4	1	0	0	0	0	1	0	0	0	16647	159	6	3	618	3	TSPAN5	4	99407956	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	8087	99407956	91746320	1128	3193											
METAP1	23173	broad.mit.edu	37	chr4	99960602	99960602	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagatatagaagggatgCgacttgtatgtagggtaaga	14	3	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:99960602C>T	uc003huf.4	+	4	535	c.418C>T	c.(418-420)Cga>Tga	p.R140*	METAP1_uc003hug.3_Non-coding_Transcript	NM_015143	NP_055958	P53582	AMPM1_HUMAN	Homo sapiens methionyl aminopeptidase 1 (METAP1), mRNA.	140					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	p.M139I(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		AGAAGGGATGCGACTTGTATG	0.363													T	99960602	C	T	99960602	4	4	4	1	0	0	0	0	0	1	0	0	9486	760	27	1	436	1	METAP1	4	99960602	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	552646	99960602	91193674	1129	3194											
ADH1C	126	broad.mit.edu	37	chr4	100261758	100261758	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatagctcctttccacgtgCgtccagtcagtagcagcata	8	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:100261758C>T	uc021xqi.1	-	6		c.1023G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTTCCACGTGCGTCCAGTCAG	0.443													T	100261758	C	T	100261758	1	4	4	0	1	0	0	0	0	0	0	0	309	768	27	1		1	ADH1C	4	100261758	RNA	SNP	C	TCGA-BR-4184-01A-01D-1126-08	301156	100261758	90892518	1130	3195											
MTTP	4547	broad.mit.edu	37	chr4	100529984	100529984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcatgaaaagactgtgcGcactgctgcagctgctatca	10	10	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:100529984G>A	uc011cej.2	+	11	1713	c.1700G>A	c.(1699-1701)cGc>cAc	p.R567H	MTTP_uc003hvc.4_Missense_Mutation_p.R540H	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	540	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AAGACTGTGCGCACTGCTGCA	0.393													A	100529984	G	A	100529984	3	1	4	1	0	0	0	0	1	0	0	0	9964	1087	38	1	1665	1	MTTP	4	100529984	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	268226	100529984	90624292	1131	3196											
PPP3CA	5530	broad.mit.edu	37	chr4	101947170	101947170	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taattcggtctaagcccttgGcttcctcgaagctagtgatc	9	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:101947170G>T	uc011cen.1	-	13	2093	c.1418C>A	c.(1417-1419)gCc>gAc	p.A473D	PPP3CA_uc003hvu.2_Missense_Mutation_p.A463D|PPP3CA_uc010ilj.2_Missense_Mutation_p.A421D|PPP3CA_uc003hvt.2_Missense_Mutation_p.A450D|PPP3CA_uc003hvs.2_Missense_Mutation_p.A406D|PPP3CA_uc010ilk.2_Missense_Mutation_p.A241D	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, alpha isozyme (PPP3CA), transcript variant 1, mRNA.	473	Inhibitory domain.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TAAGCCCTTGGCTTCCTCGAA	0.438													T	101947170	G	T	101947170	3	4	4	1	0	0	0	0	1	0	0	0	12397	1203	42	5	151	5	PPP3CA	4	101947170	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1417186	101947170	89207106	1132	3197											
SLC39A8	64116	broad.mit.edu	37	chr4	103228683	103228683	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atctttgggaaataagatttCtttatcagtggagtcaaaat	8	4	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:103228683C>A	uc003hwb.1	-	2	991	c.462G>T	c.(460-462)aaG>aaT	p.K154N	SLC39A8_uc011ceo.1_Missense_Mutation_p.K154N|SLC39A8_uc003hwa.1_Missense_Mutation_p.K87N|SLC39A8_uc003hwc.2_Missense_Mutation_p.K154N	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.	154						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		AATAAGATTTCTTTATCAGTG	0.398													A	103228683	C	A	103228683	3	1	4	1	0	0	0	0	1	0	0	0	14624	912	32	5	1021	5	SLC39A8	4	103228683	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1281513	103228683	87925593	1133	3198											
UBE2D3	7323	broad.mit.edu	37	chr4	103789880	103789880	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagagactcacttttgaaaGgcactttcggttagaaagca	9	8	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:103789880G>T	uc003hwq.3	-	0	153	c.22C>A	c.(22-24)Ctt>Att	p.L8I	CISD2_uc003hwt.4_5'Flank|UBE2D3_uc003hwr.3_5'UTR	NM_181893	NP_871622	P61077	UB2D3_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2D 3 (UBE2D3), transcript variant 9, mRNA.	6					BMP signaling pathway|DNA repair|apoptosis|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		acttttgaaaggcactttcgg	0.522													T	103789880	G	T	103789880	3	4	4	1	0	0	0	0	1	0	0	0	16847	1000	35	5	536	5	UBE2D3	4	103789880	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	561197	103789880	87364396	1134	3199											
CENPE	1062	broad.mit.edu	37	chr4	104067167	104067167	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttagtagtgctgaatctttgGgtttgaattgctccatctca	9	7	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:104067167G>T	uc003hxb.1	-	29	4322	c.4232C>A	c.(4231-4233)cCc>cAc	p.P1411H	CENPE_uc003hxc.1_Missense_Mutation_p.P1386H	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1411					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGAATCTTTGGGTTTGAATTG	0.358													T	104067167	G	T	104067167	3	4	4	1	0	0	0	0	1	0	0	0	3230	1232	43	5	3953	5	CENPE	4	104067167	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	277287	104067167	87087109	1135	3200											
TACR3	6870	broad.mit.edu	37	chr4	104640294	104640294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcctcacctgtccaccGcaatggccgtcatggagtag	9	16	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:104640294G>A	uc003hxe.1	-	0	680	c.539C>T	c.(538-540)gCg>gTg	p.A180V		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	180						integral to plasma membrane	tachykinin receptor activity	p.A180V(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CCTGTCCACCGCAATGGCCGT	0.498													A	104640294	G	A	104640294	3	1	4	1	0	0	0	0	1	0	0	0	15504	1087	38	1	878	1	TACR3	4	104640294	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	573127	104640294	86513982	1136	3201											
TACR3	6870	broad.mit.edu	37	chr4	104640738	104640738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaactgcccccgtggccGccccggcagctagcgaggcg	13	18	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:104640738G>A	uc003hxe.1	-	0	236	c.95C>T	c.(94-96)gCg>gTg	p.A32V		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	32						integral to plasma membrane	tachykinin receptor activity	p.G31G(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CCCCGTGGCCGCCCCGGCAGC	0.682													A	104640738	G	A	104640738	3	1	4	1	0	0	0	0	1	0	0	0	15504	1087	38	1	1322	1	TACR3	4	104640738	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	444	104640738	86513538	1137	3202											
GSTCD	79807	broad.mit.edu	37	chr4	106639056	106639056	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcctgcagtagtagaaCgatcagacaatttttgtaga	10	6	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:106639056C>T	uc003hxz.4	+	1	358	c.286C>T	c.(286-288)Cga>Tga	p.R96*	GSTCD_uc003hxx.2_Nonsense_Mutation_p.R96*|GSTCD_uc003hxy.4_Intron|GSTCD_uc011cfb.2_Intron|GSTCD_uc010ils.2_Nonsense_Mutation_p.R96*	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	Homo sapiens glutathione S-transferase, C-terminal domain containing (GSTCD), transcript variant 1, mRNA.	96						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		AGTAGTAGAACGATCAGACAA	0.408													T	106639056	C	T	106639056	4	4	4	1	0	0	0	0	0	1	0	0	6835	528	19	1	288	1	GSTCD	4	106639056	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1998318	106639056	84515220	1138	3203											
TBCK	93627	broad.mit.edu	37	chr4	107154146	107154146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccaggcttttaatacacGcctaaattttgcatgacctt	5	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:107154146G>A	uc010ilv.2	-	16	1953	c.1588C>T	c.(1588-1590)Cgt>Tgt	p.R530C	TBCK_uc003hyb.2_Missense_Mutation_p.R273C|TBCK_uc003hye.2_Missense_Mutation_p.R491C|TBCK_uc003hyc.2_Missense_Mutation_p.R467C|TBCK_uc003hyd.2_Missense_Mutation_p.R358C|TBCK_uc003hyf.2_Missense_Mutation_p.R530C	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	530	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.R530C(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TTTAATACACGCCTAAATTTT	0.368													A	107154146	G	A	107154146	3	1	4	1	0	0	0	0	1	0	0	0	15633	1087	38	1	1133	1	TBCK	4	107154146	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	515090	107154146	84000130	1139	3204											
CYP2U1	113612	broad.mit.edu	37	chr4	108871478	108871478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcctaatgcagagtttcGcatttgctttacctgaggat	10	8	0	3	rs150818323		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:108871478G>A	uc003hyp.3	+	4	1617	c.1534G>A	c.(1534-1536)Gca>Aca	p.A512T	CYP2U1_uc011cfi.2_Missense_Mutation_p.A303T	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily U, polypeptide 1 (CYP2U1), mRNA.	512					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		GCAGAGTTTCGCATTTGCTTT	0.398													A	108871478	G	A	108871478	3	1	4	1	0	0	0	0	1	0	0	0	4175	1087	38	1	1552	1	CYP2U1	4	108871478	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1717332	108871478	82282798	1140	3205											
AGXT2L1	64850	broad.mit.edu	37	chr4	109663750	109663750	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtccctaagcagttctaTgtgggcttctttcagcatct	9	11	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:109663750T>C	uc003hzc.3	-	12	1571	c.1390A>G	c.(1390-1392)Ata>Gta	p.I464V	AGXT2L1_uc010imc.3_Missense_Mutation_p.I458V|AGXT2L1_uc011cfm.2_Missense_Mutation_p.I424V|AGXT2L1_uc011cfn.2_Missense_Mutation_p.I391V|AGXT2L1_uc011cfo.2_Missense_Mutation_p.I406V	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	464					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		AGCAGTTCTATGTGGGCTTCT	0.493													C	109663750	T	C	109663750	3	2	4	1	0	0	0	0	1	0	0	0	406	1464	51	3	113	3	AGXT2L1	4	109663750	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	792272	109663750	81490526	1141	3206											
AGXT2L1	64850	broad.mit.edu	37	chr4	109681385	109681385	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtccaagtactgttcaccgTtctcatcaaacatgtactgc	6	12	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:109681385T>C	uc003hzc.3	-	1	315	c.134A>G	c.(133-135)aAc>aGc	p.N45S	AGXT2L1_uc010imc.3_Missense_Mutation_p.N45S|AGXT2L1_uc011cfm.2_Missense_Mutation_p.N5S|AGXT2L1_uc011cfn.2_Intron|AGXT2L1_uc011cfo.2_Intron	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	45					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		CTGTTCACCGTTCTCATCAAA	0.438													C	109681385	T	C	109681385	3	2	4	1	0	0	0	0	1	0	0	0	406	1725	60	3	1413	3	AGXT2L1	4	109681385	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	17635	109681385	81472891	1142	3207											
COL25A1	84570	broad.mit.edu	37	chr4	109858963	109858963	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagataaactgagatacttgCcatcaagccttgttctcctg	7	10	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:109858963C>T	uc021xqo.1	-	10	764	c.708_splice	c.e10+1	p.M236_splice	COL25A1_uc003hze.1_Splice_Site_p.M236_splice|COL25A1_uc021xqp.1_Splice_Site_p.M236_splice|COL25A1_uc003hzg.3_Splice_Site_p.M236_splice|COL25A1_uc003hzd.3_Intron|COL25A1_uc003hzf.3_Splice_Site_p.M17_splice	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	236	Collagen-like 2.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GAGATACTTGCCATCAAGCCT	0.333													T	109858963	C	T	109858963	5	4	4	1	0	0	0	0	0	0	1	0	3684	753	26	2	1451	2	COL25A1	4	109858963	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	177578	109858963	81295313	1143	3208											
SEC24B	10427	broad.mit.edu	37	chr4	110442692	110442692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaatgtctccaacaggtggCcgtgtgtctgtatttcagac	10	9	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:110442692C>T	uc003hzk.3	+	13	2473	c.2418C>T	c.(2416-2418)ggC>ggT	p.G806G	SEC24B_uc003hzl.3_Silent_p.G771G|SEC24B_uc011cfp.2_Silent_p.G836G|SEC24B_uc011cfq.2_Silent_p.G805G|SEC24B_uc011cfr.2_Silent_p.G770G	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	806					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAACAGGTGGCCGTGTGTCTG	0.433													T	110442692	C	T	110442692	2	4	4	1	0	0	0	0	0	0	0	1	13995	726	26	2		2	SEC24B	4	110442692	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	583729	110442692	80711584	1144	3209											
CFI	3426	broad.mit.edu	37	chr4	110662253	110662253	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttacaggcatcgatggaAccatcatatgtacctaagaa	7	10	1	1	rs145296508		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:110662253A>C	uc011cft.2	-	13	1780	c.1572T>G	c.(1570-1572)ggT>ggG	p.G524G	CFI_uc003hzq.3_Silent_p.G313G|CFI_uc003hzr.4_Silent_p.G516G	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	516	Peptidase S1.		D -> V (in AHUS3).		complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CATCGATGGAACCATCATATG	0.443													C	110662253	A	C	110662253	2	2	4	1	0	0	0	0	0	0	0	1	3289	30	2	5		5	CFI	4	110662253	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	219561	110662253	80492023	1145	3210											
RRH	10692	broad.mit.edu	37	chr4	110756589	110756589	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcacggtcgtggctgtggAccgatacctgaccatctgcc	11	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:110756589A>G	uc003hzv.3	+	2	399	c.365A>G	c.(364-366)gAc>gGc	p.D122G		NM_006583	NP_006574	O14718	OPSX_HUMAN	Homo sapiens retinal pigment epithelium-derived rhodopsin homolog (RRH), mRNA.	122					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		GTGGCTGTGGACCGATACCTG	0.388													G	110756589	A	G	110756589	3	3	4	1	0	0	0	0	1	0	0	0	13680	275	10	3	375	3	RRH	4	110756589	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	94336	110756589	80397687	1146	3211											
ENPEP	2028	broad.mit.edu	37	chr4	111397641	111397641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgtggccattctctgtgCggtggtggtgggtgtaggat	17	6	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:111397641C>T	uc003iab.4	+	0	413	c.71C>T	c.(70-72)gCg>gTg	p.A24V		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	24					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ATTCTCTGTGCGGTGGTGGTG	0.537													T	111397641	C	T	111397641	3	4	4	1	0	0	0	0	1	0	0	0	5128	768	27	1	73	1	ENPEP	4	111397641	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	641052	111397641	79756635	1147	3212											
ENPEP	2028	broad.mit.edu	37	chr4	111434596	111434596	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatgttacttgaagatgTattacctgttcaagaggatg	9	6	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:111434596T>C	uc003iab.4	+	6	1676	c.1334T>C	c.(1333-1335)gTa>gCa	p.V445A		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	445					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTTGAAGATGTATTACCTGTT	0.323													C	111434596	T	C	111434596	3	2	4	1	0	0	0	0	1	0	0	0	5128	1638	57	3	1360	3	ENPEP	4	111434596	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	36955	111434596	79719680	1148	3213											
ENPEP	2028	broad.mit.edu	37	chr4	111470515	111470515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcaggaatacttccaagGtcaagtgaagcctattgcag	9	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:111470515G>A	uc003iab.4	+	14	2507	c.2165G>A	c.(2164-2166)gGt>gAt	p.G722D		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	722					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TACTTCCAAGGTCAAGTGAAG	0.328													A	111470515	G	A	111470515	3	1	4	1	0	0	0	0	1	0	0	0	5128	1261	44	4	2223	4	ENPEP	4	111470515	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	35919	111470515	79683761	1149	3214											
AP1AR	55435	broad.mit.edu	37	chr4	113174397	113174397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacatgctcaagaggtgaGcacttaacaatagaggtaag	11	6	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:113174397G>A	uc003iaj.4	+	1	470	c.117G>A	c.(115-117)gaG>gaA	p.E39E	AP1AR_uc010imm.1_Silent_p.E39E|AP1AR_uc003iak.4_Silent_p.E39E	NM_018569	NP_061039	Q63HQ0	AP1AR_HUMAN	Homo sapiens adaptor-related protein complex 1 associated regulatory protein (AP1AR), transcript variant 1, mRNA.	39					protein transport	Golgi apparatus|early endosome|late endosome|transport vesicle				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						CAAGAGGTGAGCACTTAACAA	0.333													A	113174397	G	A	113174397	2	1	4	1	0	0	0	0	0	0	0	1	730	962	34	2		2	AP1AR	4	113174397	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1703882	113174397	77979879	1150	3215											
ANK2	287	broad.mit.edu	37	chr4	114278694	114278694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgaagacgttgtagtgGcaagctcctctagtggaact	12	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:114278694G>A	uc003ibe.4	+	37	9020	c.8920G>A	c.(8920-8922)Gca>Aca	p.A2974T	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.A2989T	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2941					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGTTGTAGTGGCAAGCTCCTC	0.413													A	114278694	G	A	114278694	3	1	4	1	0	0	0	0	1	0	0	0	621	1203	42	2	9135	2	ANK2	4	114278694	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1104297	114278694	76875582	1151	3216											
ANK2	287	broad.mit.edu	37	chr4	114278954	114278954	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgaggctcgtgtgaaAgaggaagaacaaaagatatt	12	5	0	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:114278954A>C	uc003ibe.4	+	37	9280	c.9180A>C	c.(9178-9180)aaA>aaC	p.K3060N	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.K3075N	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3027					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTCGTGTGAAAGAGGAAGAAC	0.458													C	114278954	A	C	114278954	3	2	4	1	0	0	0	0	1	0	0	0	621	69	3	5	9395	5	ANK2	4	114278954	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	260	114278954	76875322	1152	3217											
UGT8	7368	broad.mit.edu	37	chr4	115544223	115544223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctgaaggcagagacatcGccccatctaatcattacagc	7	13	3	2	rs114818124		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:115544223G>A	uc003ibs.2	+	1	709	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	UGT8_uc003ibt.2_Missense_Mutation_p.A63T|UGT8_uc011cge.1_Non-coding_Transcript	NM_001128174	NP_003351	Q16880	CGT_HUMAN	Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA.	63					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CAGAGACATCGCCCCATCTAA	0.483													A	115544223	G	A	115544223	3	1	4	1	0	0	0	0	1	0	0	0	16962	1087	38	1	189	1	UGT8	4	115544223	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1265269	115544223	75610053	1153	3218											
NDST4	64579	broad.mit.edu	37	chr4	115997904	115997904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggctggactccaaaatagCtatgatatcttgaccgagtt	9	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:115997904C>T	uc003ibu.3	-	1	968	c.289G>A	c.(289-291)Gct>Act	p.A97T	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	97	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCCAAAATAGCTATGATATCT	0.433													T	115997904	C	T	115997904	3	4	4	1	0	0	0	0	1	0	0	0	10258	797	28	2	2381	2	NDST4	4	115997904	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	453681	115997904	75156372	1154	3219											
MAD2L1	4085	broad.mit.edu	37	chr4	120981328	120981328	+	Frame_Shift_Del	DEL	G	G	-													tatttactttgtggattgtaGtagtaaatgaacgaaggcgg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:120981327_120981327AG>A	uc003idl.2	-	4	688	c.564_564CT>T	c.(562-564)actfs	p.T188fs	MAD2L1_uc003idm.2_3'UTR	NM_002358	NP_002349	Q13257	MD2L1_HUMAN	Homo sapiens MAD2 mitotic arrest deficient-like 1 (yeast) (MAD2L1), mRNA.	188	HORMA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						TGTGGATTGTAGTAGTAAATG	0.368													-	120981328	G	-	120981328	7	5	4	1	0	1	0	1	0	0	0	0	9148	1029	36	0	58	0	MAD2L1	4	120981328	Frame_Shift_Del	DEL	G	TCGA-BR-4184-01A-01D-1126-08	4983424	120981328	70172948	1155	3220											
TNIP3	79931	broad.mit.edu	37	chr4	122075764	122075764	+	Frame_Shift_Del	DEL	T	T	-													tttccttgttcgcaagagtaTtttttccctttaaaagttta							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:122075764delT	uc010ing.2	-	5	630	c.434delA	c.(433-435)AATfs	p.N145fs	TNIP3_uc010inh.2_Frame_Shift_Del_p.N145fs|TNIP3_uc011cgj.1_Frame_Shift_Del_p.N203fs|TNIP3_uc010ini.2_Frame_Shift_Del_p.N145fs	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	145	Potential.									ovary(1)	1						CGCAAGAGTATTTTTTCCCTT	0.333													-	122075764	T	-	122075764	7	5	4	1	0	1	0	1	0	0	0	0	16313	1493	52	0	571	0	TNIP3	4	122075764	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	1094436	122075764	69078512	1156	3221											
QRFPR	84109	broad.mit.edu	37	chr4	122257980	122257980	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcaagttgttgcacgtgCcacatgggtgatcctacgat	10	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:122257980C>T	uc010inj.1	-	2	922	c.543G>A	c.(541-543)tgG>tgA	p.W181*	QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_Nonsense_Mutation_p.W181*	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	Homo sapiens pyroglutamylated RFamide peptide receptor (QRFPR), mRNA.	181						plasma membrane	neuropeptide Y receptor activity	p.W181R(1)		endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						GTTGCACGTGCCACATGGGTG	0.418													T	122257980	C	T	122257980	4	4	4	1	0	0	0	0	0	1	0	0	12878	740	26	2	768	2	QRFPR	4	122257980	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	182216	122257980	68896296	1157	3222											
QRFPR	84109	broad.mit.edu	37	chr4	122301573	122301573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaagatgttggtgacggtgCgcatggccttgctgcgggtc	16	8	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:122301573C>T	uc010inj.1	-	0	609	c.230G>A	c.(229-231)cGc>cAc	p.R77H	QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_Missense_Mutation_p.R77H|QRFPR_uc010inl.1_Missense_Mutation_p.R77H	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	Homo sapiens pyroglutamylated RFamide peptide receptor (QRFPR), mRNA.	77						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						GGTGACGGTGCGCATGGCCTT	0.582													T	122301573	C	T	122301573	3	4	4	1	0	0	0	0	1	0	0	0	12878	768	27	1	1089	1	QRFPR	4	122301573	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	43593	122301573	68852703	1158	3223											
TRPC3	7222	broad.mit.edu	37	chr4	122846219	122846219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgacacgacttaatgaaGctttgtgcctgtgtacctcc	9	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:122846219G>A	uc003ieg.2	-	2	1204	c.1130C>T	c.(1129-1131)gCt>gTt	p.A377V	TRPC3_uc010inr.2_Missense_Mutation_p.A304V|TRPC3_uc003ief.2_Missense_Mutation_p.A304V|TRPC3_uc011cgl.1_Missense_Mutation_p.A41V	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	292					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ACTTAATGAAGCTTTGTGCCT	0.443													A	122846219	G	A	122846219	3	1	4	1	0	0	0	0	1	0	0	0	16576	971	34	2	1675	2	TRPC3	4	122846219	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	544646	122846219	68308057	1159	3224											
TRPC3	7222	broad.mit.edu	37	chr4	122853627	122853627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttgcagaaatagtcgtgCggccgctcgatcctggcacc	11	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:122853627C>T	uc003ieg.2	-	1	860	c.786G>A	c.(784-786)ccG>ccA	p.P262P	TRPC3_uc010inr.2_Silent_p.P189P|TRPC3_uc003ief.2_Silent_p.P189P|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	177					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AATAGTCGTGCGGCCGCTCGA	0.602													T	122853627	C	T	122853627	2	4	4	1	0	0	0	0	0	0	0	1	16576	755	27	1		1	TRPC3	4	122853627	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	7408	122853627	68300649	1160	3225											
KIAA1109	84162	broad.mit.edu	37	chr4	123140711	123140711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgtacaaagttcatgggCgtcttcctgttgtaagtgtt	10	6	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:123140711C>T	uc003ieh.3	+	18	2509	c.2464C>T	c.(2464-2466)Cgt>Tgt	p.R822C	KIAA1109_uc003iei.1_Missense_Mutation_p.R576C|KIAA1109_uc010ins.1_Missense_Mutation_p.R166C|KIAA1109_uc003iej.1_Missense_Mutation_p.R207C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	822					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGTTCATGGGCGTCTTCCTGT	0.373													T	123140711	C	T	123140711	3	4	4	1	0	0	0	0	1	0	0	0	8208	768	27	1	2538	1	KIAA1109	4	123140711	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	287084	123140711	68013565	1161	3226											
KIAA1109	84162	broad.mit.edu	37	chr4	123161120	123161120	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaacccagcagattgactAcagtaggggttccatatatc	9	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:123161120A>G	uc003ieh.3	+	26	4328	c.4283A>G	c.(4282-4284)tAc>tGc	p.Y1428C	KIAA1109_uc003iei.1_Missense_Mutation_p.Y1181C|KIAA1109_uc010ins.1_Missense_Mutation_p.Y771C|KIAA1109_uc003iek.2_Missense_Mutation_p.Y47C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1428					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAGATTGACTACAGTAGGGGT	0.443													G	123161120	A	G	123161120	3	3	4	1	0	0	0	0	1	0	0	0	8208	391	14	3	4389	3	KIAA1109	4	123161120	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	20409	123161120	67993156	1162	3227											
KIAA1109	84162	broad.mit.edu	37	chr4	123258064	123258064	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacaagatgaagatatgggAcattttgaaataccagatcc	8	7	1	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:123258064A>G	uc003ieh.3	+	68	12084	c.12039A>G	c.(12037-12039)ggA>ggG	p.G4013G	KIAA1109_uc003iem.3_Silent_p.G369G|KIAA1109_uc003ien.3_5'Flank	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4013					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.G4013V(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAGATATGGGACATTTTGAAA	0.333													G	123258064	A	G	123258064	2	3	4	1	0	0	0	0	0	0	0	1	8208	262	10	3		3	KIAA1109	4	123258064	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	96944	123258064	67896212	1163	3228											
FAT4	79633	broad.mit.edu	37	chr4	126237960	126237960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgggacctcaatgacaacGcccccgttttcccggacccc	9	18	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:126237960G>A	uc003ifj.4	+	0	394	c.394G>A	c.(394-396)Gcc>Acc	p.A132T		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	132	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAATGACAACGCCCCCGTTTT	0.617											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	126237960	G	A	126237960	3	1	4	1	0	0	0	0	1	0	0	0	5692	1087	38	1	396	1	FAT4	4	126237960	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2979896	126237960	64916316	1164	3229											
FAT4	79633	broad.mit.edu	37	chr4	126238572	126238572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgccttccctcactgggCgcgccgaggcgctgattcag	14	15	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:126238572C>T	uc003ifj.4	+	0	1006	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	336	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCTCACTGGGCGCGCCGAGGC	0.627											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	126238572	C	T	126238572	3	4	4	1	0	0	0	0	1	0	0	0	5692	768	27	1	1008	1	FAT4	4	126238572	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	612	126238572	64915704	1165	3230											
FAT4	79633	broad.mit.edu	37	chr4	126240523	126240523	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatcttaacagtttatgTccatgatgtaaatgacaatt	6	6	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:126240523T>C	uc003ifj.4	+	0	2957	c.2957T>C	c.(2956-2958)gTc>gCc	p.V986A		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	986	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V986A(3)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAGTTTATGTCCATGATGTA	0.438													C	126240523	T	C	126240523	3	2	4	1	0	0	0	0	1	0	0	0	5692	1667	58	3	2959	3	FAT4	4	126240523	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1951	126240523	64913753	1166	3231											
FAT4	79633	broad.mit.edu	37	chr4	126242112	126242112	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtatgctttgaagaacgtgAccattttggttacagacctc	10	8	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:126242112A>G	uc003ifj.4	+	0	4546	c.4546A>G	c.(4546-4548)Acc>Gcc	p.T1516A		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1516	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAAGAACGTGACCATTTTGGT	0.418													G	126242112	A	G	126242112	3	3	4	1	0	0	0	0	1	0	0	0	5692	275	10	3	4548	3	FAT4	4	126242112	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1589	126242112	64912164	1167	3232											
FAT4	79633	broad.mit.edu	37	chr4	126242602	126242602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaaaaaactgttggacGcctctttactattggacgac	9	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:126242602G>A	uc003ifj.4	+	0	5036	c.5036G>A	c.(5035-5037)cGc>cAc	p.R1679H		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1679	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTGTTGGACGCCTCTTTACT	0.453													A	126242602	G	A	126242602	3	1	4	1	0	0	0	0	1	0	0	0	5692	1087	38	1	5038	1	FAT4	4	126242602	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	490	126242602	64911674	1168	3233											
FAT4	79633	broad.mit.edu	37	chr4	126369981	126369981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctatgtcatattatatcGcaagtgggaatcttggcaat	8	7	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:126369981G>A	uc003ifj.4	+	8	7810	c.7810G>A	c.(7810-7812)Gca>Aca	p.A2604T	FAT4_uc011cgp.2_Missense_Mutation_p.A902T|FAT4_uc003ifi.1_Missense_Mutation_p.A82T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2604	Cadherin 25.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATATTATATCGCAAGTGGGAa	0.393													A	126369981	G	A	126369981	3	1	4	1	0	0	0	0	1	0	0	0	5692	1087	38	1	7844	1	FAT4	4	126369981	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	127379	126369981	64784295	1169	3234											
FAT4	79633	broad.mit.edu	37	chr4	126411605	126411605	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccaaagaggagaagaaacCgaaggagaagaagaaaaagg	13	5	0	6			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:126411605C>A	uc003ifj.4	+	16	13628	c.13628C>A	c.(13627-13629)cCg>cAg	p.P4543Q	FAT4_uc011cgp.2_Missense_Mutation_p.P2784Q|FAT4_uc003ifi.1_Missense_Mutation_p.P2020Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4543					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGAAGAAACCGAAGGAGAAG	0.517													A	126411605	C	A	126411605	3	1	4	1	0	0	0	0	1	0	0	0	5692	652	23	5	13694	5	FAT4	4	126411605	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	41624	126411605	64742671	1170	3235											
FAT4	79633	broad.mit.edu	37	chr4	126412402	126412402	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acccaagtatctgcagtgcaGaccatgggaggtcttcttca	10	11	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:126412402G>T	uc003ifj.4	+	16	14425	c.14425G>T	c.(14425-14427)Gac>Tac	p.D4809Y	FAT4_uc011cgp.2_Missense_Mutation_p.D3050Y|FAT4_uc003ifi.1_Missense_Mutation_p.D2286Y	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4809					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGCAGTGCAGACCATGGGAG	0.512													T	126412402	G	T	126412402	3	4	4	1	0	0	0	0	1	0	0	0	5692	942	33	5	14491	5	FAT4	4	126412402	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	797	126412402	64741874	1171	3236											
SCLT1	132320	broad.mit.edu	37	chr4	129880822	129880822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctcttacaatagcctcaTatctctcattttctaattca	3	11	6	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:129880822T>C	uc003igp.2	-	11	1486	c.980A>G	c.(979-981)tAt>tGt	p.Y327C	SCLT1_uc003ign.2_5'UTR|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	327						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						AATAGCCTCATATCTCTCATT	0.348													C	129880822	T	C	129880822	3	2	4	1	0	0	0	0	1	0	0	0	13906	1406	49	3	1126	3	SCLT1	4	129880822	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	3468420	129880822	61273454	1172	3237											
PCDH10	57575	broad.mit.edu	37	chr4	134072314	134072314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccccaacgccgtgcctgCgcactgcaaggtgctagtgc	14	15	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:134072314C>T	uc003iha.3	+	0	1845	c.1019C>T	c.(1018-1020)gCg>gTg	p.A340V	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Missense_Mutation_p.A340V	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	340	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCCGTGCCTGCGCACTGCAAG	0.607													T	134072314	C	T	134072314	3	4	4	1	0	0	0	0	1	0	0	0	11507	768	27	1	1021	1	PCDH10	4	134072314	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4191492	134072314	57081962	1173	3238											
PCDH10	57575	broad.mit.edu	37	chr4	134073044	134073044	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cctctaccagggcgcaacggGactccagcgcgtgaggtgct	14	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:134073044G>T	uc003iha.3	+	0	2575	c.1749G>T	c.(1747-1749)ggG>ggT	p.G583G	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Silent_p.G583G	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	583	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGCGCAACGGGACTCCAGCGC	0.687													T	134073044	G	T	134073044	2	4	4	1	0	0	0	0	0	0	0	1	11507	1161	41	5		5	PCDH10	4	134073044	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	730	134073044	57081232	1174	3239											
PCDH10	57575	broad.mit.edu	37	chr4	134073220	134073220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggagctgcgcacagcacGccgagtcccggccaagcgcg	16	16	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:134073220G>A	uc003iha.3	+	0	2751	c.1925G>A	c.(1924-1926)cGc>cAc	p.R642H	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Missense_Mutation_p.R642H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	642	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R642G(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGCACAGCACGCCGAGTCCCG	0.672													A	134073220	G	A	134073220	3	1	4	1	0	0	0	0	1	0	0	0	11507	1087	38	1	1927	1	PCDH10	4	134073220	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	176	134073220	57081056	1175	3240											
PCDH10	57575	broad.mit.edu	37	chr4	134073864	134073864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaacccctgcggggccatcGtcaccggttacaccgaccag	10	17	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:134073864G>A	uc003iha.3	+	0	3395	c.2569G>A	c.(2569-2571)Gtc>Atc	p.V857I	PCDH10_uc003igz.3_Missense_Mutation_p.V857I	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	857					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGGGGCCATCGTCACCGGTTA	0.572													A	134073864	G	A	134073864	3	1	4	1	0	0	0	0	1	0	0	0	11507	1145	40	1	2571	1	PCDH10	4	134073864	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	644	134073864	57080412	1176	3241											
PCDH18	54510	broad.mit.edu	37	chr4	138452423	138452423	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttcccattagcgccctcatCtggatccgtggcattcagat	8	13	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:138452423C>T	uc003ihe.4	-	0	1207	c.820G>A	c.(820-822)Gat>Aat	p.D274N	PCDH18_uc003ihf.4_Missense_Mutation_p.D267N|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.D54N|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	274	Cadherin 3.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCGCCCTCATCTGGATCCGTG	0.408													T	138452423	C	T	138452423	3	4	4	1	0	0	0	0	1	0	0	0	11513	913	32	4	2603	4	PCDH18	4	138452423	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4378559	138452423	52701853	1177	3242											
NAA15	80155	broad.mit.edu	37	chr4	140262203	140262203	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttactacagattcaaatgCgagatcttgagggttacagg	10	8	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:140262203C>T	uc003ihu.1	+	3	638	c.382C>T	c.(382-384)Cga>Tga	p.R128*		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	Homo sapiens N(alpha)-acetyltransferase 15, NatA auxiliary subunit (NAA15), mRNA.	128					N-terminal protein amino acid acetylation|angiogenesis|cell differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GATTCAAATGCGAGATCTTGA	0.318													T	140262203	C	T	140262203	4	4	4	1	0	0	0	0	0	1	0	0	10118	760	27	1	396	1	NAA15	4	140262203	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1809780	140262203	50892073	1178	3243											
NAA15	80155	broad.mit.edu	37	chr4	140264015	140264015	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacttcagcttcgacctgcGcagagagcatcatggattgg	11	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:140264015G>A	uc003ihu.1	+	4	694	c.438G>A	c.(436-438)gcG>gcA	p.A146A		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	Homo sapiens N(alpha)-acetyltransferase 15, NatA auxiliary subunit (NAA15), mRNA.	146					N-terminal protein amino acid acetylation|angiogenesis|cell differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTCGACCTGCGCAGAGAGCAT	0.348													A	140264015	G	A	140264015	2	1	4	1	0	0	0	0	0	0	0	1	10118	1074	38	1		1	NAA15	4	140264015	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1812	140264015	50890261	1179	3244											
MAML3	55534	broad.mit.edu	37	chr4	140640939	140640939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgaagagggtagctggcGccattgttgaatggtcccaa	14	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:140640939G>A	uc021xsg.1	-	4	3707	c.2955C>T	c.(2953-2955)ggC>ggT	p.G985G	MGST2_uc021xsf.1_Intron|MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Silent_p.G448G	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	981					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGTAGCTGGCGCCATTGTTGA	0.567													A	140640939	G	A	140640939	2	1	4	1	0	0	0	0	0	0	0	1	9207	1074	38	1		1	MAML3	4	140640939	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	376924	140640939	50513337	1180	3245											
RNF150	57484	broad.mit.edu	37	chr4	141888992	141888992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactatctccttcccttttgGctcaggaatcattatggcca	6	12	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:141888992G>A	uc003iio.1	-	1	1174	c.520C>T	c.(520-522)Cca>Tca	p.P174S	RNF150_uc010iok.1_Missense_Mutation_p.P174S|RNF150_uc003iip.1_Missense_Mutation_p.P174S	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	174	PA.					integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TTCCCTTTTGGCTCAGGAATC	0.488													A	141888992	G	A	141888992	3	1	4	1	0	0	0	0	1	0	0	0	13451	1203	42	2	820	2	RNF150	4	141888992	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1248053	141888992	49265284	1181	3246											
GAB1	2549	broad.mit.edu	37	chr4	144359168	144359168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagaacgcatgctgattctGcaaaatccacctcttctgaa	6	11	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:144359168G>A	uc003ijd.3	+	3	969	c.610G>A	c.(610-612)Gca>Aca	p.A204T	GAB1_uc003ije.3_Missense_Mutation_p.A204T|GAB1_uc011chq.2_Missense_Mutation_p.A101T	NM_207123	NP_997006	Q13480	GAB1_HUMAN	Homo sapiens GRB2-associated binding protein 1 (GAB1), transcript variant 1, mRNA.	204				A -> G (in Ref. 1; AAC50380).	cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	p.A204T(2)		breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					TGCTGATTCTGCAAAATCCAC	0.353													A	144359168	G	A	144359168	3	1	4	1	0	0	0	0	1	0	0	0	6148	1319	46	2	624	2	GAB1	4	144359168	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2470176	144359168	46795108	1182	3247											
HHIP	64399	broad.mit.edu	37	chr4	145659003	145659003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatatcttggtcctcaatGtgaacaagtggacagaaaca	10	7	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:145659003G>A	uc003ijs.2	+	12	2677	c.1997G>A	c.(1996-1998)tGt>tAt	p.C666Y		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	666	EGF-like 2.					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GGTCCTCAATGTGAACAAGTG	0.438													A	145659003	G	A	145659003	3	1	4	1	0	0	0	0	1	0	0	0	7092	1377	48	4	2047	4	HHIP	4	145659003	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1299835	145659003	45495273	1183	3248											
OTUD4	54726	broad.mit.edu	37	chr4	146071750	146071750	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaagaatgactagagaAcgcatgttgtcttactcctg	9	10	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:146071750A>G	uc003ika.4	-	12	1117	c.979T>C	c.(979-981)Ttc>Ctc	p.F327L		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	391							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TGACTAGAGAACGCATGTTGT	0.458													G	146071750	A	G	146071750	3	3	4	1	0	0	0	0	1	0	0	0	11314	43	2	3	2206	3	OTUD4	4	146071750	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	412747	146071750	45082526	1184	3249											
SMAD1	4086	broad.mit.edu	37	chr4	146461063	146461063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctcacatgccactcaacGccacttttccagattctttc	4	16	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:146461063G>A	uc003ikc.3	+	2	924	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	SMAD1_uc003ikd.3_Missense_Mutation_p.A170T|SMAD1_uc010iov.3_Missense_Mutation_p.A170T|SMAD1_uc011cic.2_Missense_Mutation_p.A170T|SMAD1_uc003ikf.3_Non-coding_Transcript	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Homo sapiens SMAD family member 1 (SMAD1), transcript variant 1, mRNA.	170					BMP signaling pathway|SMAD protein complex assembly|embryonic pattern specification|primary miRNA processing|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	I-SMAD binding|co-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					GCCACTCAACGCCACTTTTCC	0.507													A	146461063	G	A	146461063	3	1	4	1	0	0	0	0	1	0	0	0	14757	1087	38	1	514	1	SMAD1	4	146461063	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	389313	146461063	44693213	1185	3250											
POU4F2	5458	broad.mit.edu	37	chr4	147561859	147561859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctctgaaaagatcgccGccatcgcggagaagctggac	11	14	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:147561859G>A	uc003ikv.3	+	1	1377	c.1129G>A	c.(1129-1131)Gcc>Acc	p.A377T		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	377					MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	p.A376A(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					AAAGATCGCCGCCATCGCGGA	0.557													A	147561859	G	A	147561859	3	1	4	1	0	0	0	0	1	0	0	0	12279	1087	38	1	1135	1	POU4F2	4	147561859	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1100796	147561859	43592417	1186	3251											
NR3C2	4306	broad.mit.edu	37	chr4	149075716	149075716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctacctggaagtacctttGcccacttcacgacttggatc	7	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:149075716G>A	uc003ilj.4	-	4	2714	c.2351C>T	c.(2350-2352)gCa>gTa	p.A784V	NR3C2_uc003ilk.4_Intron|NR3C2_uc010iph.3_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	784	Important for coactivator binding.|Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	AAGTACCTTTGCCCACTTCAC	0.507													A	149075716	G	A	149075716	3	1	4	1	0	0	0	0	1	0	0	0	10631	1319	46	2	623	2	NR3C2	4	149075716	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1513857	149075716	42078560	1187	3252											
LRBA	987	broad.mit.edu	37	chr4	151336636	151336636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggttttggcccaaggaGgaagttcgacatcagacact	12	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:151336636G>A	uc010ipj.3	-	47	7425	c.7181C>T	c.(7180-7182)cCt>cTt	p.P2394L	LRBA_uc010ipi.3_Intron|LRBA_uc003ils.4_Missense_Mutation_p.P284L|LRBA_uc003ilt.4_Missense_Mutation_p.P1042L|LRBA_uc003ilu.4_Missense_Mutation_p.P2383L	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2394	BEACH.					Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GGCCCAAGGAGGAAGTTCGAC	0.373													A	151336636	G	A	151336636	3	1	4	1	0	0	0	0	1	0	0	0	8931	1000	35	4	1454	4	LRBA	4	151336636	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2260920	151336636	39817640	1188	3253											
MAB21L2	10586	broad.mit.edu	37	chr4	151504900	151504900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcggggaggcggagaaccGcctgctgatgggcggctgcc	19	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:151504900G>A	uc003ilw.3	+	0	1824	c.719G>A	c.(718-720)cGc>cAc	p.R240H	LRBA_uc003ils.4_5'Flank|LRBA_uc003ilt.4_Intron|LRBA_uc003ilu.4_Intron|LRBA_uc010ipj.3_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	Homo sapiens mab-21-like 2 (C. elegans) (MAB21L2), mRNA.	240					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GCGGAGAACCGCCTGCTGATG	0.637													A	151504900	G	A	151504900	3	1	4	1	0	0	0	0	1	0	0	0	9142	1087	38	1	721	1	MAB21L2	4	151504900	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	168264	151504900	39649376	1189	3254											
TRIM2	23321	broad.mit.edu	37	chr4	154215584	154215584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagaagactttaaatgtgCgcaagagtgtgctgcttatg	11	7	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:154215584C>T	uc003inh.2	+	4	818	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	TRIM2_uc003ing.2_Missense_Mutation_p.R218C	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA.	218						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TTTAAATGTGCGCAAGAGTGT	0.423													T	154215584	C	T	154215584	3	4	4	1	0	0	0	0	1	0	0	0	16491	768	27	1	751	1	TRIM2	4	154215584	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2710684	154215584	36938692	1190	3255											
PLRG1	5356	broad.mit.edu	37	chr4	155460278	155460278	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcttggatgtaaaaccacaGccctaactgattttttgtga	8	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:155460278G>T	uc003iny.3	-	11	1255	c.1130C>A	c.(1129-1131)gCt>gAt	p.A377D	PLRG1_uc003inz.3_Missense_Mutation_p.A368D	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	377						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TAAAACCACAGCCCTAACTGA	0.363													T	155460278	G	T	155460278	3	4	4	1	0	0	0	0	1	0	0	0	12106	971	34	5	430	5	PLRG1	4	155460278	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1244694	155460278	35693998	1191	3256											
LRAT	9227	broad.mit.edu	37	chr4	155665742	155665742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagacgacatggggcgcacGcagaaggtggtctccaacaa	13	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:155665742G>A	uc003iom.1	+	0	591	c.264G>A	c.(262-264)acG>acA	p.T88T	DQ266889_uc003iol.3_Intron|LRAT_uc003ion.1_Silent_p.T88T	NM_004744	NP_004735	O95237	LRAT_HUMAN	Homo sapiens lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) (LRAT), mRNA.	88					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TGGGGCGCACGCAGAAGGTGG	0.582													A	155665742	G	A	155665742	2	1	4	1	0	0	0	0	0	0	0	1	8930	1074	38	1		1	LRAT	4	155665742	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	205464	155665742	35488534	1192	3257											
GUCY1A3	2982	broad.mit.edu	37	chr4	156618218	156618218	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaagaaaaaccagtcggAgccgagtctatcttcacact	7	12	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:156618218A>C	uc003iov.3	+	3	735	c.199A>C	c.(199-201)Agc>Cgc	p.S67R	GUCY1A3_uc003iou.2_Missense_Mutation_p.S67R|GUCY1A3_uc010iqc.2_Missense_Mutation_p.S67R|GUCY1A3_uc010iqd.3_Missense_Mutation_p.S67R|GUCY1A3_uc003iow.3_Missense_Mutation_p.S67R|GUCY1A3_uc003iox.3_Missense_Mutation_p.S67R|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Missense_Mutation_p.S67R|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Missense_Mutation_p.S67R	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	67					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.R66W(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AACCAGTCGGAGCCGAGTCTA	0.428													C	156618218	A	C	156618218	3	2	4	1	0	0	0	0	1	0	0	0	6894	304	11	5	201	5	GUCY1A3	4	156618218	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	952476	156618218	34536058	1193	3258											
GRIA2	2891	broad.mit.edu	37	chr4	158254497	158254497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagctcaaaactaatgggCcccggaaggtaaatccttag	11	9	1	0	rs143357227		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:158254497C>T	uc003ipm.4	+	7	1606	c.1147C>T	c.(1147-1149)Ccc>Tcc	p.P383S	GRIA2_uc011cit.2_Missense_Mutation_p.P336S|GRIA2_uc003ipl.4_Missense_Mutation_p.P383S|GRIA2_uc003ipk.4_Missense_Mutation_p.P336S|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	383					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.P383R(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AACTAATGGGCCCCGGAAGGT	0.398													T	158254497	C	T	158254497	3	4	4	1	0	0	0	0	1	0	0	0	6768	739	26	2	1177	2	GRIA2	4	158254497	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1636279	158254497	32899779	1194	3259											
FNIP2	57600	broad.mit.edu	37	chr4	159789517	159789517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacggtgaggaacgagcccGctcttgtaccccccatccta	9	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:159789517G>A	uc003iqe.4	+	12	1912	c.1729G>A	c.(1729-1731)Gct>Act	p.A577T		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	577	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GAACGAGCCCGCTCTTGTACC	0.542													A	159789517	G	A	159789517	3	1	4	1	0	0	0	0	1	0	0	0	5976	1087	38	1	1779	1	FNIP2	4	159789517	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1535020	159789517	31364759	1195	3260											
FNIP2	57600	broad.mit.edu	37	chr4	159789546	159789546	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccccatcctaccaccaacAgcagcagagagacacaaccc	5	20	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:159789546A>G	uc003iqe.4	+	12	1941	c.1758A>G	c.(1756-1758)acA>acG	p.T586T		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	586	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TACCACCAACAGCAGCAGAGA	0.542													G	159789546	A	G	159789546	2	3	4	1	0	0	0	0	0	0	0	1	5976	175	7	3		3	FNIP2	4	159789546	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	29	159789546	31364730	1196	3261											
RAPGEF2	9693	broad.mit.edu	37	chr4	160265202	160265202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacaggaagaagaaatggcGgagtttggggtaagtggtgg	18	2	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:160265202G>A	uc003iqg.4	+	16	3096	c.2786G>A	c.(2785-2787)cGg>cAg	p.R929Q		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	929	Ras-GEF.				MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity	p.R917P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAGAAATGGCGGAGTTTGGGG	0.433													A	160265202	G	A	160265202	3	1	4	1	0	0	0	0	1	0	0	0	13044	1116	39	1	2852	1	RAPGEF2	4	160265202	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	475656	160265202	30889074	1197	3262											
RAPGEF2	9693	broad.mit.edu	37	chr4	160275010	160275010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtcccgagcaagctgggCgtcttccacaggttactggg	13	13	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:160275010C>T	uc003iqg.4	+	21	4290	c.3980C>T	c.(3979-3981)gCg>gTg	p.A1327V		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	1327					MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GCAAGCTGGGCGTCTTCCACA	0.473													T	160275010	C	T	160275010	3	4	4	1	0	0	0	0	1	0	0	0	13044	768	27	1	4066	1	RAPGEF2	4	160275010	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	9808	160275010	30879266	1198	3263											
FSTL5	56884	broad.mit.edu	37	chr4	163032431	163032431	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattgactgtaccttatgtcGcaatctcattagaggctgat	8	8	1	3	rs141917472	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:163032431G>A	uc003iqh.3	-	1	554	c.118C>T	c.(118-120)Cga>Tga	p.R40*	FSTL5_uc003iqi.3_Nonsense_Mutation_p.R40*|FSTL5_uc010iqv.3_Nonsense_Mutation_p.R40*	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	40						extracellular region	calcium ion binding	p.R40*(2)|p.R40Q(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ACCTTATGTCGCAATCTCATT	0.393													A	163032431	G	A	163032431	4	1	4	1	0	0	0	0	0	1	0	0	6080	1095	38	1	2485	1	FSTL5	4	163032431	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2757421	163032431	28121845	1199	3264											
TKTL2	84076	broad.mit.edu	37	chr4	164393491	164393491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacattcccttggtattggCggctagataaatagcatgct	10	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:164393491C>T	uc003iqp.4	-	0	1557	c.1396G>A	c.(1396-1398)Gcc>Acc	p.A466T		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	466						cytoplasm	metal ion binding|transketolase activity	p.A465D(1)|p.A465G(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTGGTATTGGCGGCTAGATAA	0.463													T	164393491	C	T	164393491	3	4	4	1	0	0	0	0	1	0	0	0	15933	768	27	1	488	1	TKTL2	4	164393491	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1361060	164393491	26760785	1200	3265											
TKTL2	84076	broad.mit.edu	37	chr4	164393888	164393888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataactctttcatttgcacgGcccagtttagccagagccaa	7	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:164393888G>A	uc003iqp.4	-	0	1160	c.999C>T	c.(997-999)ggC>ggT	p.G333G		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	333						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				catttgcacggcccagtttag	0.423													A	164393888	G	A	164393888	2	1	4	1	0	0	0	0	0	0	0	1	15933	1190	42	2		2	TKTL2	4	164393888	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	397	164393888	26760388	1201	3266											
TKTL2	84076	broad.mit.edu	37	chr4	164394215	164394215	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccaaaatgcttggcacaaGgcctccacatcatggccatc	8	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:164394215G>T	uc003iqp.4	-	0	833	c.672C>A	c.(670-672)gcC>gcA	p.A224A		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	224						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTTGGCACAAGGCCTCCACAT	0.488													T	164394215	G	T	164394215	2	4	4	1	0	0	0	0	0	0	0	1	15933	987	35	5		5	TKTL2	4	164394215	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	327	164394215	26760061	1202	3267											
ANP32C	23520	broad.mit.edu	37	chr4	165118464	165118464	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atatgtgagttgcaggagaaGcttgaacacgttttctccgt	11	7	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:165118464G>T	uc011cjk.2	-	0	400	c.400C>A	c.(400-402)Ctt>Att	p.L134I	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	134										NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		TGCAGGAGAAGCTTGAACACG	0.488													T	165118464	G	T	165118464	3	4	4	1	0	0	0	0	1	0	0	0	707	971	34	5	307	5	ANP32C	4	165118464	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	724249	165118464	26035812	1203	3268											
TRIM60	166655	broad.mit.edu	37	chr4	165962417	165962417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaagagtggttatgttgCgtcaggtcctaagacaaccc	11	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:165962417C>T	uc003iqy.1	+	2	1363	c.1193C>T	c.(1192-1194)gCg>gTg	p.A398V	TRIM60_uc010iqx.1_Missense_Mutation_p.A398V|TRIM60_uc021xty.1_Missense_Mutation_p.A398V	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	398	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GGTTATGTTGCGTCAGGTCCT	0.443													T	165962417	C	T	165962417	3	4	4	1	0	0	0	0	1	0	0	0	16532	768	27	1	1195	1	TRIM60	4	165962417	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	843953	165962417	25191859	1204	3269											
GK	2710	broad.mit.edu	37	chr4	166200297	166200297	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagctcgtttttcttcaacGgccttttgaacttttctcac	6	11	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:166200297G>A	uc003ird.3	-	0	879	c.501C>T	c.(499-501)gcC>gcT	p.A167A	KLHL2_uc003irb.3_Intron|KLHL2_uc011cjm.2_Intron|KLHL2_uc003irc.3_Intron|KLHL2_uc010ira.3_Intron	NM_000167	NP_000158	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 2, mRNA.	167					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						TTTCTTCAACGGCCTTTTGAA	0.438													A	166200297	G	A	166200297	2	1	4	1	0	0	0	0	0	0	0	1	6420	1131	39	1		1	GK	4	166200297	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	237880	166200297	24953979	1205	3270											
DDX60	55601	broad.mit.edu	37	chr4	169182016	169182016	+	Splice_Site	DEL	A	A	-													aattaaattaaataacttacAaaaaaaatagtgcaggtaac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:169182015_169182015CA>C	uc003irp.3	-	25	3690	c.3398_splice	c.e25+1	p.L1133_splice		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1133							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AAATAACTTACAAAAAAAATA	0.388													-	169182016	A	-	169182016	8	5	4	1	0	1	0	1	0	0	1	0	4378	144	5	0	1796	0	DDX60	4	169182016	Splice_Site	DEL	A	TCGA-BR-4184-01A-01D-1126-08	2981719	169182016	21972260	1206	3271											
PALLD	23022	broad.mit.edu	37	chr4	169433100	169433100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgtggtgcaaaaactcccAgcacaaacgtaaagcccaaa	8	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:169433100A>G	uc011cjx.2	+	1	656	c.445A>G	c.(445-447)Agc>Ggc	p.S149G	PALLD_uc003iru.3_Missense_Mutation_p.S149G	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	149					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AAAAACTCCCAGCACAAACGT	0.522									Pancreatic Cancer, Familial Clustering of				G	169433100	A	G	169433100	3	3	4	1	0	0	0	0	1	0	0	0	11407	188	7	3	447	3	PALLD	4	169433100	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	251084	169433100	21721176	1207	3272											
MFAP3L	9848	broad.mit.edu	37	chr4	170913308	170913308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacacgaccatgtagtagaCacccatgtctccagaagtga	9	12	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:170913308C>T	uc003isp.4	-	2	629	c.451G>A	c.(451-453)Gtc>Atc	p.V151I	MFAP3L_uc003isn.4_Missense_Mutation_p.V48I|MFAP3L_uc021xuj.1_Missense_Mutation_p.V48I	NM_021647	NP_001009554	O75121	MFA3L_HUMAN	Homo sapiens microfibrillar-associated protein 3-like (MFAP3L), transcript variant 1, mRNA.	151						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		ATGTAGTAGACACCCATGTCT	0.517													T	170913308	C	T	170913308	3	4	4	1	0	0	0	0	1	0	0	0	9516	478	17	4	782	4	MFAP3L	4	170913308	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1480208	170913308	20240968	1208	3273											
WDR17	116966	broad.mit.edu	37	chr4	177041100	177041100	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaggcccactgttcatttgGaccatctcaggaccagatag	10	11	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:177041100G>A	uc003iuj.3	+	4	765	c.462G>A	c.(460-462)tgG>tgA	p.W154*	WDR17_uc003ium.4_Nonsense_Mutation_p.W130*|WDR17_uc003iul.2_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	154										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		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;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGTTCATTTGGACCATCTCAG	0.453													A	177041100	G	A	177041100	4	1	4	1	0	0	0	0	0	1	0	0	17274	1183	41	4	476	4	WDR17	4	177041100	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	6127792	177041100	14113176	1209	3274											
ASB5	140458	broad.mit.edu	37	chr4	177136833	177136833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttggttttcctatgtagCttcggatacagagtcggcaa	10	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:177136833C>T	uc003iuq.2	-	6	1022	c.908G>A	c.(907-909)aGc>aAc	p.S303N	ASB5_uc003iup.2_Missense_Mutation_p.S250N	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	303	SOCS box.				intracellular signal transduction			p.R302*(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		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)		TCCTATGTAGCTTCGGATACA	0.353													T	177136833	C	T	177136833	3	4	4	1	0	0	0	0	1	0	0	0	1026	797	28	2	85	2	ASB5	4	177136833	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	95733	177136833	14017443	1210	3275											
NEIL3	55247	broad.mit.edu	37	chr4	178283618	178283618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaataaaaattattcctgGatgctaatatctgtagattc	7	5	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:178283618G>A	uc003iut.2	+	9	1928	c.1811G>A	c.(1810-1812)gGa>gAa	p.G604E		NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	604					base-excision repair|nucleotide-excision repair	nucleus	DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		ATTATTCCTGGATGCTAATAT	0.348								Base excision repair (BER), DNA glycosylases					A	178283618	G	A	178283618	3	1	4	1	0	0	0	0	1	0	0	0	10320	1174	41	4	1849	4	NEIL3	4	178283618	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1146785	178283618	12870658	1211	3276											
ODZ3	55714	broad.mit.edu	37	chr4	183245190	183245190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtatggatgtgaaagaacGcaggccttactgctccctga	11	9	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:183245190G>A	uc003ivd.1	+	0	92	c.17G>A	c.(16-18)cGc>cAc	p.R6H	ODZ3_uc021xux.1_Missense_Mutation_p.R6H|ODZ3_uc010irv.1_Missense_Mutation_p.R6H	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	6	Teneurin N-terminal.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GTGAAAGAACGCAGGCCTTAC	0.522													A	183245190	G	A	183245190	3	1	4	1	0	0	0	0	1	0	0	0	10836	1087	38	1	19	1	ODZ3	4	183245190	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4961572	183245190	7909086	1212	3277											
ODZ3	55714	broad.mit.edu	37	chr4	183603050	183603050	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggatggggaggtagcAattgtgaaatactgaagacc	14	6	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:183603050A>G	uc003ivd.1	+	9	1993	c.1918A>G	c.(1918-1920)Aat>Gat	p.N640D	ODZ3_uc003ive.1_Missense_Mutation_p.N46D	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	640	EGF-like 4.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGGAGGTAGCAATTGTGAAAT	0.507													G	183603050	A	G	183603050	3	3	4	1	0	0	0	0	1	0	0	0	10836	130	5	3	1956	3	ODZ3	4	183603050	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	357860	183603050	7551226	1213	3278											
ENPP6	133121	broad.mit.edu	37	chr4	185039015	185039015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggccttccacgtcaatgCgctcatggtatatggctgcc	12	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:185039015C>T	uc003iwc.3	-	3	714	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	191					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CACGTCAATGCGCTCATGGTA	0.597													T	185039015	C	T	185039015	3	4	4	1	0	0	0	0	1	0	0	0	5134	768	27	1	770	1	ENPP6	4	185039015	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1435965	185039015	6115261	1214	3279											
IRF2	3660	broad.mit.edu	37	chr4	185339814	185339814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggcgcatctgaaattcGccttccatgttttgggatca	9	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:185339814G>A	uc003iwf.4	-	3	436	c.236C>T	c.(235-237)gCg>gTg	p.A79V		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	79					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.A79V(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TCTGAAATTCGCCTTCCATGT	0.383													A	185339814	G	A	185339814	3	1	4	1	0	0	0	0	1	0	0	0	7828	1087	38	1	837	1	IRF2	4	185339814	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	300799	185339814	5814462	1215	3280											
LRP2BP	55805	broad.mit.edu	37	chr4	186288347	186288347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtggtctaaattctttgaCgaataagtaaggagtgaagt	11	3	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:186288347C>T	uc003ixj.2	-	7	1843	c.1031G>A	c.(1030-1032)cGt>cAt	p.R344H	SNX25_uc003ixi.3_Intron|LRP2BP_uc003ixk.2_Missense_Mutation_p.R318H	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN	Homo sapiens LRP2 binding protein (LRP2BP), mRNA.	344						cytoplasm	protein binding			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		AATTCTTTGACGAATAAGTAA	0.343													T	186288347	C	T	186288347	3	4	4	1	0	0	0	0	1	0	0	0	8957	536	19	1	16	1	LRP2BP	4	186288347	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	948533	186288347	4865929	1216	3281											
PDLIM3	27295	broad.mit.edu	37	chr4	186446177	186446177	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattagttaagaagcacctgTcaattttgagacacagctgg	9	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:186446177T>C	uc003ixw.4	-	1	366	c.242A>G	c.(241-243)gAc>gGc	p.D81G	PDLIM3_uc003ixx.4_Missense_Mutation_p.D81G|PDLIM3_uc010isi.3_Non-coding_Transcript|PDLIM3_uc003ixy.3_Missense_Mutation_p.D81G|PDLIM3_uc003ixz.2_Missense_Mutation_p.D81G	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	Homo sapiens PDZ and LIM domain 3 (PDLIM3), transcript variant 1, mRNA.	81	PDZ.					sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GAAGCACCTGTCAATTTTGAG	0.473													C	186446177	T	C	186446177	3	2	4	1	0	0	0	0	1	0	0	0	11681	1667	58	3	1072	3	PDLIM3	4	186446177	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	157830	186446177	4708099	1217	3282											
FAM149A	25854	broad.mit.edu	37	chr4	187086544	187086544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccactggttcaaacgtcaCggagcaggttccccccgcta	9	17	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:187086544C>T	uc003iyt.4	+	10	1669	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	FAM149A_uc011cla.1_Missense_Mutation_p.R364W|FAM149A_uc010isl.3_Missense_Mutation_p.R364W|FAM149A_uc011clb.2_Missense_Mutation_p.R364W	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	Homo sapiens family with sequence similarity 149, member A (FAM149A), transcript variant 1, mRNA.	655										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TCAAACGTCACGGAGCAGGTT	0.537													T	187086544	C	T	187086544	3	4	4	1	0	0	0	0	1	0	0	0	5455	527	19	1	1120	1	FAM149A	4	187086544	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	640367	187086544	4067732	1218	3283											
CYP4V2	285440	broad.mit.edu	37	chr4	187120119	187120119	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccatttatagaatgagtgAgatgatatttcgaagaataa	8	4	0	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:187120119A>G	uc003iyw.4	+	5	987	c.683A>G	c.(682-684)gAg>gGg	p.E228G		NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2), mRNA.	228					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		AGAATGAGTGAGATGATATTT	0.383													G	187120119	A	G	187120119	3	3	4	1	0	0	0	0	1	0	0	0	4192	304	11	3	705	3	CYP4V2	4	187120119	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	33575	187120119	4034157	1219	3284											
KLKB1	3818	broad.mit.edu	37	chr4	187172953	187172953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttctccaactaggattgCgtatgggacacaagggagct	13	8	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:187172953C>T	uc003iyy.3	+	9	1153	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V	KLKB1_uc011clc.2_Missense_Mutation_p.A159V|KLKB1_uc011cld.2_Missense_Mutation_p.A323V	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	361	Apple 4.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ACTAGGATTGCGTATGGGACA	0.443													T	187172953	C	T	187172953	3	4	4	1	0	0	0	0	1	0	0	0	8412	768	27	1	1116	1	KLKB1	4	187172953	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	52834	187172953	3981323	1220	3285											
FAT1	2195	broad.mit.edu	37	chr4	187540638	187540638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatcactgctcagcgtggGcataccaccatcaactgccc	7	17	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:187540638G>A	uc003izf.3	-	9	7290	c.7102C>T	c.(7102-7104)Ccc>Tcc	p.P2368S		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2368	Cadherin 21.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTCAGCGTGGGCATACCACCA	0.498										HNSCC(5;0.00058)			A	187540638	G	A	187540638	3	1	4	1	0	0	0	0	1	0	0	0	5689	1203	42	2	6736	2	FAT1	4	187540638	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	367685	187540638	3613638	1221	3286											
FAT1	2195	broad.mit.edu	37	chr4	187540995	187540995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtatgctcagcttatatgCcgggtgggcctcaaagtcca	12	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:187540995C>T	uc003izf.3	-	9	6933	c.6745G>A	c.(6745-6747)Gca>Aca	p.A2249T		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2249	Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCTTATATGCCGGGTGGGCC	0.478										HNSCC(5;0.00058)			T	187540995	C	T	187540995	3	4	4	1	0	0	0	0	1	0	0	0	5689	739	26	2	7093	2	FAT1	4	187540995	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	357	187540995	3613281	1222	3287											
FAT1	2195	broad.mit.edu	37	chr4	187630114	187630114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccacgatgcttaaagatgCtatgtcaccattggcaccct	8	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:187630114C>T	uc003izf.3	-	1	1056	c.868G>A	c.(868-870)Gca>Aca	p.A290T	FAT1_uc010iso.1_Missense_Mutation_p.A290T	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	290					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTAAAGATGCTATGTCACCA	0.488										HNSCC(5;0.00058)			T	187630114	C	T	187630114	3	4	4	1	0	0	0	0	1	0	0	0	5689	797	28	2	13002	2	FAT1	4	187630114	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	89119	187630114	3524162	1223	3288											
PLEKHG4B	153478	broad.mit.edu	37	chr5	162053	162053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgctcgtccgagttgtgCgagacggtaagagacccagt	13	12	0	2	rs145013757	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:162053C>T	uc003jak.2	+	9	1625	c.1575C>T	c.(1573-1575)tgC>tgT	p.C525C		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	525					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCGAGTTGTGCGAGACGGTAA	0.637													T	162053	C	T	162053	2	4	4	1	0	0	0	0	0	0	0	1	12072	776	27	1		1	PLEKHG4B	5	162053	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08		162053	180753207	1224	3289											
LRRC14B	389257	broad.mit.edu	37	chr5	194842	194842	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccctacagaccccgctgCgagtactggacctggccaac	10	18	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:194842C>T	uc003jal.1	+	1	947	c.919C>T	c.(919-921)Cga>Tga	p.R307*		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	Homo sapiens leucine rich repeat containing 14B (LRRC14B), mRNA.	307										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						GACCCCGCTGCGAGTACTGGA	0.647													T	194842	C	T	194842	4	4	4	1	0	0	0	0	0	1	0	0	8969	760	27	1	925	1	LRRC14B	5	194842	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	32789	194842	180720418	1225	3290											
CCDC127	133957	broad.mit.edu	37	chr5	205673	205673	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgaggaagaaacagactGcagtagatattctgtctttc	10	8	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:205673G>A	uc003jam.1	-	2	622	c.522C>T	c.(520-522)tgC>tgT	p.C174C		NM_145265	NP_660308	Q96BQ5	CC127_HUMAN	Homo sapiens coiled-coil domain containing 127 (CCDC127), mRNA.	174										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			GAAACAGACTGCAGTAGATAT	0.522													A	205673	G	A	205673	2	1	4	1	0	0	0	0	0	0	0	1	2763	1311	46	2		2	CCDC127	5	205673	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	10831	205673	180709587	1226	3291											
SDHA	6389	broad.mit.edu	37	chr5	226056	226056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaagatttatcagcgtgCatttggtggacagagcctca	13	7	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:226056C>T	uc011clv.1	+	4	630	c.515C>T	c.(514-516)gCa>gTa	p.A172V	SDHA_uc003jao.4_Missense_Mutation_p.A172V|SDHA_uc011clw.2_Missense_Mutation_p.A124V|SDHA_uc003jaq.4_5'Flank|SDHA_uc021xvu.1_5'Flank	NM_004168	NP_004159	P31040	DHSA_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.	172					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TATCAGCGTGCATTTGGTGGA	0.463									Familial Paragangliomas				T	226056	C	T	226056	3	4	4	1	0	0	0	0	1	0	0	0	13963	710	25	2	533	2	SDHA	5	226056	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	20383	226056	180689204	1227	3292											
EXOC3	11336	broad.mit.edu	37	chr5	453727	453727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggtcactggtcactgtcCgccgtgaccccaccttgctg	11	15	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:453727C>T	uc003jba.3	+	3	735	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Homo sapiens exocyst complex component 3 (EXOC3), mRNA.	214					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGTCACTGTCCGCCGTGACCC	0.537													T	453727	C	T	453727	3	4	4	1	0	0	0	0	1	0	0	0	5303	652	23	1	617	1	EXOC3	5	453727	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	227671	453727	180461533	1228	3293											
EXOC3	11336	broad.mit.edu	37	chr5	453949	453949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacaagatgtggcttgtcCgccacctggaaattataagg	11	9	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:453949C>T	uc003jba.3	+	3	957	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Homo sapiens exocyst complex component 3 (EXOC3), mRNA.	288					exocytosis|protein transport			p.R277C(2)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GTGGCTTGTCCGCCACCTGGA	0.473													T	453949	C	T	453949	3	4	4	1	0	0	0	0	1	0	0	0	5303	652	23	1	839	1	EXOC3	5	453949	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	222	453949	180461311	1229	3294											
SLC9A3	6550	broad.mit.edu	37	chr5	492080	492080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggcgtcagtgtgaaggaCgcgatgtggtcggccgccca	18	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:492080C>T	uc003jbe.2	-	1	430	c.318G>A	c.(316-318)gcG>gcA	p.A106A	SLC9A3_uc011clx.1_Silent_p.A106A	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	106						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GTGTGAAGGACGCGATGTGGT	0.652													T	492080	C	T	492080	2	4	4	1	0	0	0	0	0	0	0	1	14713	523	19	1		1	SLC9A3	5	492080	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	38131	492080	180423180	1230	3295											
TERT	7015	broad.mit.edu	37	chr5	1264611	1264611	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggcatctgaacaaaagcCgtgccacccagggcctcgtc	11	16	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:1264611C>T	uc003jcb.1	-	10	2809	c.2751G>A	c.(2749-2751)acG>acA	p.T917T	TERT_uc003jbz.1_Silent_p.T113T|TERT_uc003jcc.1_Intron|TERT_uc003jca.1_Silent_p.T905T|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Silent_p.T69T	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	917	Required for oligomerization.|Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GAACAAAAGCCGTGCCACCCA	0.622									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				T	1264611	C	T	1264611	2	4	4	1	0	0	0	0	0	0	0	1	15761	639	23	1		1	TERT	5	1264611	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	772531	1264611	179650649	1231	3296											
SLC6A3	6531	broad.mit.edu	37	chr5	1409199	1409199	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagaggatggacgtgccGgctgcaaaatggtccaggag	15	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:1409199G>A	uc003jck.3	-	10	1566	c.1440C>T	c.(1438-1440)gcC>gcT	p.A480A		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	480					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TGGACGTGCCGGCTGCAAAAT	0.592													A	1409199	G	A	1409199	2	1	4	1	0	0	0	0	0	0	0	1	14685	1103	39	1		1	SLC6A3	5	1409199	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	144588	1409199	179506061	1232	3297											
IRX4	50805	broad.mit.edu	37	chr5	1879729	1879729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcacttgttccgcggcgGccacgtcatcttgttctcct	10	15	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:1879729G>A	uc003jcz.2	-	3	744	c.625C>T	c.(625-627)Ccg>Tcg	p.P209S	IRX4_uc011cmf.1_Missense_Mutation_p.P70S	NM_016358	NP_057442	P78413	IRX4_HUMAN	Homo sapiens iroquois homeobox 4 (IRX4), mRNA.	209					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		TTCCGCGGCGGCCACGTCATC	0.662													A	1879729	G	A	1879729	3	1	4	1	0	0	0	0	1	0	0	0	7846	1203	42	2	942	2	IRX4	5	1879729	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	470530	1879729	179035531	1233	3298											
KIAA0947	23379	broad.mit.edu	37	chr5	5461451	5461451	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtattctctactgaaccGcatcattcagaacataaatt	4	9	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:5461451G>A	uc003jdm.4	+	12	2226	c.2004G>A	c.(2002-2004)ccG>ccA	p.P668P		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	668										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTACTGAACCGCATCATTCAG	0.393													A	5461451	G	A	5461451	2	1	4	1	0	0	0	0	0	0	0	1	8202	1074	38	1		1	KIAA0947	5	5461451	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3581722	5461451	175453809	1234	3299											
KIAA0947	23379	broad.mit.edu	37	chr5	5464600	5464600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcctctgcagttctgtgCggccacgccgaagcacgcac	11	16	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:5464600C>T	uc003jdm.4	+	12	5375	c.5153C>T	c.(5152-5154)gCg>gTg	p.A1718V		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1718	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CAGTTCTGTGCGGCCACGCCG	0.612													T	5464600	C	T	5464600	3	4	4	1	0	0	0	0	1	0	0	0	8202	768	27	1	5203	1	KIAA0947	5	5464600	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3149	5464600	175450660	1235	3300											
KIAA0947	23379	broad.mit.edu	37	chr5	5489418	5489418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctagaggaagtcagtgCcctgagcacagaggagcttg	14	10	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:5489418C>T	uc003jdm.4	+	18	6998	c.6776C>T	c.(6775-6777)gCc>gTc	p.A2259V		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	2259										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GAAGTCAGTGCCCTGAGCACA	0.502													T	5489418	C	T	5489418	3	4	4	1	0	0	0	0	1	0	0	0	8202	739	26	2	6850	2	KIAA0947	5	5489418	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	24818	5489418	175425842	1236	3301											
NSUN2	54888	broad.mit.edu	37	chr5	6607320	6607320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacttttcttacccacacaCgccatctttcttactgccat	2	17	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:6607320C>T	uc003jdu.3	-	12	1882	c.1501G>A	c.(1501-1503)Gtg>Atg	p.V501M	NSUN2_uc003jdt.3_Missense_Mutation_p.V265M|NSUN2_uc011cmk.2_Missense_Mutation_p.V466M|NSUN2_uc003jdv.3_Missense_Mutation_p.V265M	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	501						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	p.V501M(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TACCCACACACGCCATCTTTC	0.443													T	6607320	C	T	6607320	3	4	4	1	0	0	0	0	1	0	0	0	10678	536	19	1	830	1	NSUN2	5	6607320	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1117902	6607320	174307940	1237	3302											
DNAH5	1767	broad.mit.edu	37	chr5	13811916	13811916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgcttcttgaggtgagCgtttcttaagaaaaccctgt	9	8	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:13811916C>T	uc003jfd.2	-	43	7289	c.7247G>A	c.(7246-7248)cGc>cAc	p.R2416H		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2416	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGAGGTGAGCGTTTCTTAAG	0.393									Kartagener syndrome				T	13811916	C	T	13811916	3	4	4	1	0	0	0	0	1	0	0	0	4604	768	27	1	6771	1	DNAH5	5	13811916	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	7204596	13811916	167103344	1238	3303											
DNAH5	1767	broad.mit.edu	37	chr5	13891148	13891148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggaagctgacaaagaggCgtgctgctcatttcttctag	13	8	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:13891148C>T	uc003jfd.2	-	16	2556	c.2514G>A	c.(2512-2514)acG>acA	p.T838T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	838	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACAAAGAGGCGTGCTGCTCA	0.408									Kartagener syndrome				T	13891148	C	T	13891148	2	4	4	1	0	0	0	0	0	0	0	1	4604	755	27	1		1	DNAH5	5	13891148	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	79232	13891148	167024112	1239	3304											
TRIO	7204	broad.mit.edu	37	chr5	14367023	14367023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaatgccggacttatcacaGccagctcgttacaagaggca	9	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:14367023G>A	uc003jff.3	+	15	2815	c.2809G>A	c.(2809-2811)Gcc>Acc	p.A937T	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.A888T|TRIO_uc003jfh.1_Missense_Mutation_p.A586T	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	937					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACTTATCACAGCCAGCTCGTT	0.547													A	14367023	G	A	14367023	3	1	4	1	0	0	0	0	1	0	0	0	16549	971	34	2	2871	2	TRIO	5	14367023	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	475875	14367023	166548237	1240	3305											
TRIO	7204	broad.mit.edu	37	chr5	14401091	14401091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctcagagttgggtgtcaCagaacatgttgaaggagacc	13	8	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:14401091C>T	uc003jff.3	+	30	4640	c.4634C>T	c.(4633-4635)aCa>aTa	p.T1545I	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.T1194I	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1545	PH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTGGGTGTCACAGAACATGTT	0.393													T	14401091	C	T	14401091	3	4	4	1	0	0	0	0	1	0	0	0	16549	478	17	4	4756	4	TRIO	5	14401091	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	34068	14401091	166514169	1241	3306											
FBXL7	23194	broad.mit.edu	37	chr5	15936704	15936704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgcacaccatcgcggcGcactgcacgcagctcaccca	10	19	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:15936704G>A	uc003jfn.1	+	3	1366	c.885G>A	c.(883-885)gcG>gcA	p.A295A		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	295					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCATCGCGGCGCACTGCACGC	0.612													A	15936704	G	A	15936704	2	1	4	1	0	0	0	0	0	0	0	1	5724	1074	38	1		1	FBXL7	5	15936704	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1535613	15936704	164978556	1242	3307											
MYO10	4651	broad.mit.edu	37	chr5	16673839	16673839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatcttgcaggagccgccGccatggcaatagaccgtgga	14	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:16673839G>A	uc003jft.4	-	35	5592	c.5124C>T	c.(5122-5124)ggC>ggT	p.G1708G	MYO10_uc011cnb.2_Silent_p.G337G|MYO10_uc011cnc.2_Silent_p.G587G|MYO10_uc011cnd.2_Silent_p.G1065G|MYO10_uc011cne.2_Silent_p.G1065G|MYO10_uc010itx.3_Silent_p.G1330G	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1708	FERM.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGGAGCCGCCGCCATGGCAAT	0.527													A	16673839	G	A	16673839	2	1	4	1	0	0	0	0	0	0	0	1	10062	1074	38	1		1	MYO10	5	16673839	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	737135	16673839	164241421	1243	3308											
MYO10	4651	broad.mit.edu	37	chr5	16818205	16818205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggacgccatgtcatccacGccctcctcgttcgtggggtg	12	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:16818205G>A	uc003jft.4	-	2	660	c.192C>T	c.(190-192)ggC>ggT	p.G64G	MYO10_uc003jfu.2_Silent_p.G31G|MYO10_uc003jfv.2_Silent_p.G64G	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	64	Myosin head-like.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity	p.G64G(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGTCATCCACGCCCTCCTCGT	0.463													A	16818205	G	A	16818205	2	1	4	1	0	0	0	0	0	0	0	1	10062	1074	38	1		1	MYO10	5	16818205	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	144366	16818205	164097055	1244	3309											
CDH12	1010	broad.mit.edu	37	chr5	21752162	21752162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctggttttatatccctgCgaattttgttctcctcaatc	6	10	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:21752162C>T	uc010iuc.2	-	11	2527	c.2069G>A	c.(2068-2070)cGc>cAc	p.R690H	CDH12_uc011cno.1_Missense_Mutation_p.R650H|CDH12_uc003jgk.2_Missense_Mutation_p.R690H|BC038535_uc003jgj.3_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	690					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R690H(2)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TATATCCCTGCGAATTTTGTT	0.458										HNSCC(59;0.17)			T	21752162	C	T	21752162	3	4	4	1	0	0	0	0	1	0	0	0	3098	768	27	1	319	1	CDH12	5	21752162	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4933957	21752162	159163098	1245	3310											
PRDM9	56979	broad.mit.edu	37	chr5	23509190	23509190	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcccagaagaagacacagaGagaacagagcggaagcccat	12	10	0	6			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:23509190G>A	uc003jgo.3	+	1	230	c.48G>A	c.(46-48)gaG>gaA	p.E16E		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	16					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAGACACAGAGAGAACAGAGC	0.567										HNSCC(3;0.000094)			A	23509190	G	A	23509190	2	1	4	1	0	0	0	0	0	0	0	1	12463	933	33	4		4	PRDM9	5	23509190	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1757028	23509190	157406070	1246	3311											
CDH10	1008	broad.mit.edu	37	chr5	24492981	24492981	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagctaaactgaaaaaaaaTttctgtccacctaaagggtc	7	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:24492981T>A	uc003jgr.2	-	9	2075	c.1569A>T	c.(1567-1569)aaA>aaT	p.K523N	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	523	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.K523N(2)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGAAAAAAAATTTCTGTCCAC	0.318										HNSCC(23;0.051)			A	24492981	T	A	24492981	3	1	4	1	0	0	0	0	1	0	0	0	3096	1490	52	5	809	5	CDH10	5	24492981	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	983791	24492981	156422279	1247	3312											
CDH10	1008	broad.mit.edu	37	chr5	24498629	24498629	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgttgtctctttgggattgtCtggaaaaggggaagaaaaat	13	3	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:24498629C>A	uc003jgr.2	-	9	1900	c.1394_splice	c.e9-1	p.N465_splice	CDH10_uc011cnu.2_Splice_Site	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	465	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTGGGATTGTCTGGAAAAGGG	0.363										HNSCC(23;0.051)			A	24498629	C	A	24498629	5	1	4	1	0	0	0	0	0	0	1	0	3096	927	32	5	989	5	CDH10	5	24498629	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	5648	24498629	156416631	1248	3313											
CDH10	1008	broad.mit.edu	37	chr5	24505247	24505247	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcaataacagtaagaTtatgccactgagatagttca	8	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:24505247T>A	uc003jgr.2	-	7	1873	c.1367A>T	c.(1366-1368)aAt>aTt	p.N456I	CDH10_uc011cnu.2_Intron	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	456	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AACAGTAAGATTATGCCACTG	0.308										HNSCC(23;0.051)			A	24505247	T	A	24505247	3	1	4	1	0	0	0	0	1	0	0	0	3096	1493	52	5	1019	5	CDH10	5	24505247	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	6618	24505247	156410013	1249	3314											
CDH10	1008	broad.mit.edu	37	chr5	24535840	24535840	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctccacagagaaatagggCtgcccttgaagtatgctgta	12	9	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:24535840C>A	uc003jgr.2	-	3	1124	c.618G>T	c.(616-618)caG>caT	p.Q206H	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	206	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G205W(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGAAATAGGGCTGCCCTTGAA	0.443										HNSCC(23;0.051)			A	24535840	C	A	24535840	3	1	4	1	0	0	0	0	1	0	0	0	3096	796	28	5	1784	5	CDH10	5	24535840	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	30593	24535840	156379420	1250	3315											
CDH9	1007	broad.mit.edu	37	chr5	26885767	26885767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcgcaacgagagctcccGtgctcaggccggctgaaagg	14	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:26885767G>A	uc003jgs.1	-	10	2007	c.1838C>T	c.(1837-1839)aCg>aTg	p.T613M	CDH9_uc011cnv.1_Missense_Mutation_p.T206M	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	613					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T613T(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GAGAGCTCCCGTGCTCAGGCC	0.507													A	26885767	G	A	26885767	3	1	4	1	0	0	0	0	1	0	0	0	3117	1145	40	1	539	1	CDH9	5	26885767	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2349927	26885767	154029493	1251	3316											
C5orf22	55322	broad.mit.edu	37	chr5	31541102	31541102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaccaatttaagaaacctgGcaccaacctaacagaggtat	7	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:31541102G>A	uc003jhj.4	+	4	981	c.854G>A	c.(853-855)gGc>gAc	p.G285D	C5orf22_uc011cnw.1_Intron|C5orf22_uc003jhk.4_Missense_Mutation_p.G20D	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	Homo sapiens chromosome 5 open reading frame 22 (C5orf22), mRNA.	285										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						AAGAAACCTGGCACCAACCTA	0.308													A	31541102	G	A	31541102	3	1	4	1	0	0	0	0	1	0	0	0	2285	1203	42	2	872	2	C5orf22	5	31541102	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4655335	31541102	149374158	1252	3317											
PDZD2	23037	broad.mit.edu	37	chr5	31799525	31799525	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtggatgagagtacggTcccacctgatcacagccccc	11	14	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:31799525T>C	uc003jhl.3	+	1	558	c.170T>C	c.(169-171)gTc>gCc	p.V57A	PDZD2_uc003jhm.3_Missense_Mutation_p.V57A	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	57					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAGAGTACGGTCCCACCTGAT	0.592													C	31799525	T	C	31799525	3	2	4	1	0	0	0	0	1	0	0	0	11701	1667	58	3	172	3	PDZD2	5	31799525	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	258423	31799525	149115735	1253	3318											
ZFR	51663	broad.mit.edu	37	chr5	32380215	32380215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggcgtagagcagccagaGcgtcaaggcatttttgcctg	14	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:32380215G>A	uc003jhr.1	-	15	2785	c.2705C>T	c.(2704-2706)gCt>gTt	p.A902V	ZFR_uc010ium.1_Missense_Mutation_p.A33V|ZFR_uc011cny.1_Intron	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	902	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	p.A902T(2)|p.A902S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGCAGCCAGAGCGTCAAGGCA	0.443													A	32380215	G	A	32380215	3	1	4	1	0	0	0	0	1	0	0	0	17656	971	34	2	539	2	ZFR	5	32380215	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	580690	32380215	148535045	1254	3319											
NPR3	4883	broad.mit.edu	37	chr5	32712628	32712628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatctggaagacatcgtgcGcaatatccaggccagtgaga	13	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:32712628G>A	uc003jhv.3	+	0	1191	c.746G>A	c.(745-747)cGc>cAc	p.R249H	NPR3_uc010iuo.3_Intron|NPR3_uc003jhw.2_Intron|NPR3_uc003jhu.3_Missense_Mutation_p.R249H	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	249					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GACATCGTGCGCAATATCCAG	0.627													A	32712628	G	A	32712628	3	1	4	1	0	0	0	0	1	0	0	0	10596	1087	38	1	748	1	NPR3	5	32712628	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	332413	32712628	148202632	1255	3320											
TARS	6897	broad.mit.edu	37	chr5	33453456	33453456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgtgtgggacctggaccGccctctggaagaagattgta	14	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:33453456G>A	uc003jhy.3	+	3	687	c.392G>A	c.(391-393)cGc>cAc	p.R131H	TARS_uc010iup.1_Missense_Mutation_p.R72H|TARS_uc011coc.2_Missense_Mutation_p.R152H|TARS_uc003jhz.3_Missense_Mutation_p.R27H|TARS_uc011cod.2_Intron	NM_152295	NP_689508	P26639	SYTC_HUMAN	Homo sapiens threonyl-tRNA synthetase (TARS), mRNA.	131					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	p.R131H(4)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GACCTGGACCGCCCTCTGGAA	0.393													A	33453456	G	A	33453456	3	1	4	1	0	0	0	0	1	0	0	0	15556	1087	38	1	406	1	TARS	5	33453456	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	740828	33453456	147461804	1256	3321											
RXFP3	51289	broad.mit.edu	37	chr5	33937066	33937066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcggcggggcagagagcgCggacacagaggcccgggtgc	20	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:33937066C>T	uc003jic.2	+	0	576	c.221C>T	c.(220-222)gCg>gTg	p.A74V		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 3 (RXFP3), mRNA.	74						integral to plasma membrane	N-formyl peptide receptor activity	p.A74V(2)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GCAGAGAGCGCGGACACAGAG	0.692													T	33937066	C	T	33937066	3	4	4	1	0	0	0	0	1	0	0	0	13761	768	27	1	223	1	RXFP3	5	33937066	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	483610	33937066	146978194	1257	3322											
RXFP3	51289	broad.mit.edu	37	chr5	33938061	33938061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcaagagcctgctgtggCgcatcgcgtctccttcgatc	11	15	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:33938061C>T	uc003jic.2	+	0	1571	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 3 (RXFP3), mRNA.	406						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CCTGCTGTGGCGCATCGCGTC	0.682													T	33938061	C	T	33938061	3	4	4	1	0	0	0	0	1	0	0	0	13761	768	27	1	1218	1	RXFP3	5	33938061	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	995	33938061	146977199	1258	3323											
TTC23L	153657	broad.mit.edu	37	chr5	34850347	34850347	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctttctcggattatttttGgggaccatcactggaaatgt	9	8	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:34850347G>T	uc003jiu.3	+	3	416	c.313G>T	c.(313-315)Ggg>Tgg	p.G105W		NM_144725	NP_653326	Q6PF05	TT23L_HUMAN	Homo sapiens tetratricopeptide repeat domain 23-like (TTC23L), mRNA.	105							binding	p.G105W(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						GATTATTTTTGGGGACCATCA	0.453													T	34850347	G	T	34850347	3	4	4	1	0	0	0	0	1	0	0	0	16688	1348	47	5	323	5	TTC23L	5	34850347	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	912286	34850347	146064913	1259	3324											
SKP2	6502	broad.mit.edu	37	chr5	36168477	36168477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagtgtccaccctccacgGcatactgtctcagtgttcca	8	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:36168477G>A	uc003jkc.2	+	4	819	c.599G>A	c.(598-600)gGc>gAc	p.G200D	SKP2_uc003jkd.3_Missense_Mutation_p.G200D|SKP2_uc011cou.2_Intron	NM_005983	NP_005974	Q13309	SKP2_HUMAN	Homo sapiens S-phase kinase-associated protein 2 (p45) (SKP2), transcript variant 1, mRNA.	200					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation	SCF ubiquitin ligase complex|nucleoplasm	protein binding	p.G200D(2)		breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACCCTCCACGGCATACTGTCT	0.507													A	36168477	G	A	36168477	3	1	4	1	0	0	0	0	1	0	0	0	14362	1203	42	2	617	2	SKP2	5	36168477	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1318130	36168477	144746783	1260	3325											
NIPBL	25836	broad.mit.edu	37	chr5	37006526	37006526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagagttacaaaatcagCggatgcttgtcttacaacta	10	7	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:37006526C>T	uc003jkl.4	+	16	4422	c.3923C>T	c.(3922-3924)gCg>gTg	p.A1308V	NIPBL_uc003jkk.4_Missense_Mutation_p.A1308V	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	1308					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.A1308A(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACAAAATCAGCGGATGCTTGT	0.338													T	37006526	C	T	37006526	3	4	4	1	0	0	0	0	1	0	0	0	10428	768	27	1	3985	1	NIPBL	5	37006526	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	838049	37006526	143908734	1261	3326											
C5orf42	65250	broad.mit.edu	37	chr5	37196023	37196023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctccaggtctaaaaaatgCgatacctcctttacagtaat	6	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:37196023C>T	uc011cpa.1	-	20	3979	c.3748G>A	c.(3748-3750)Gca>Aca	p.A1250T	C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.A325T|C5orf42_uc011cpb.1_Missense_Mutation_p.A131T	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1250								p.A131T(1)|p.A1250T(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTAAAAAATGCGATACCTCCT	0.383													T	37196023	C	T	37196023	3	4	4	1	0	0	0	0	1	0	0	0	2301	768	27	1	5973	1	C5orf42	5	37196023	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	189497	37196023	143719237	1262	3327											
EGFLAM	133584	broad.mit.edu	37	chr5	38418215	38418215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacctctctatcttggtggCgctcccagcgcttactggtt	9	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:38418215C>T	uc003jlc.2	+	11	1888	c.1542C>T	c.(1540-1542)ggC>ggT	p.G514G	EGFLAM_uc003jlb.2_Silent_p.G514G|EGFLAM_uc003jle.2_Silent_p.G280G|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	514	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATCTTGGTGGCGCTCCCAGCG	0.468													T	38418215	C	T	38418215	2	4	4	1	0	0	0	0	0	0	0	1	4966	755	27	1		1	EGFLAM	5	38418215	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1222192	38418215	142497045	1263	3328											
RICTOR	253260	broad.mit.edu	37	chr5	39002706	39002706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggagtcttggatgagatatCgaagcgctcgtagccctgct	13	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:39002706C>T	uc003jlo.2	-	4	345	c.323G>A	c.(322-324)cGa>cAa	p.R108Q	RICTOR_uc003jlp.2_Missense_Mutation_p.R108Q|RICTOR_uc010ivf.2_5'UTR|RICTOR_uc003jlq.1_Missense_Mutation_p.R92Q|RICTOR_uc011cpk.1_Missense_Mutation_p.R108Q	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	108					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GATGAGATATCGAAGCGCTCG	0.363													T	39002706	C	T	39002706	3	4	4	1	0	0	0	0	1	0	0	0	13358	884	31	1	4939	1	RICTOR	5	39002706	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	584491	39002706	141912554	1264	3329											
C9	735	broad.mit.edu	37	chr5	39341719	39341719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcacagggctctgtgggCacacactgtcgtctgtctcc	10	15	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:39341719C>T	uc003jlv.4	-	2	356	c.267G>A	c.(265-267)gtG>gtA	p.V89V		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	89	TSP type-1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCTCTGTGGGCACACACTGTC	0.463													T	39341719	C	T	39341719	2	4	4	1	0	0	0	0	0	0	0	1	2443	697	25	2		2	C9	5	39341719	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	339013	39341719	141573541	1265	3330											
DAB2	1601	broad.mit.edu	37	chr5	39388941	39388941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcatctagaatcattaggGcctcactcccattctgaaaa	7	11	5	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:39388941G>A	uc003jlx.3	-	7	1115	c.584C>T	c.(583-585)gCc>gTc	p.A195V	DAB2_uc003jlw.3_Missense_Mutation_p.A195V	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	195	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AATCATTAGGGCCTCACTCCC	0.348													A	39388941	G	A	39388941	3	1	4	1	0	0	0	0	1	0	0	0	4218	1203	42	2	1756	2	DAB2	5	39388941	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	47222	39388941	141526319	1266	3331											
TTC33	23548	broad.mit.edu	37	chr5	40716477	40716477	+	Frame_Shift_Del	DEL	T	T	-													tacttcagctggtgcttcacTttttttaatcctctgtgcta							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:40716476_40716476CT>C	uc003jma.3	-	4	708	c.560_560AG>G	c.(559-561)agtfs	p.S187fs	TTC33_uc011cpm.2_Frame_Shift_Del_p.S79fs|TTC33_uc010ivg.3_3'UTR	NM_012382	NP_036514	Q6PID6	TTC33_HUMAN	Homo sapiens tetratricopeptide repeat domain 33 (TTC33), mRNA.	187							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TGGTGCTTCACTTTTTTTAAT	0.428													-	40716477	T	-	40716477	7	5	4	1	0	1	0	1	0	0	0	0	16699	1609	56	0	233	0	TTC33	5	40716477	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	1327536	40716477	140198783	1267	3332											
C7	730	broad.mit.edu	37	chr5	40959677	40959677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatcctgcgttggagaaaCgacagaaagcacacaatgcg	12	9	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:40959677C>T	uc003jmh.3	+	11	1730	c.1616C>T	c.(1615-1617)aCg>aTg	p.T539M	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	539	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.T539M(1)					Ovarian(839;0.0112)				GTTGGAGAAACGACAGAAAGC	0.542													T	40959677	C	T	40959677	3	4	4	1	0	0	0	0	1	0	0	0	2375	536	19	1	1662	1	C7	5	40959677	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	243200	40959677	139955583	1268	3333											
HEATR7B2	133558	broad.mit.edu	37	chr5	41000852	41000853	+	Frame_Shift_Ins	INS	-	-	A													tcttttttatttcttcagcaINSaaaaaaatcttccaccttct							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:41000851_41000852C>CA	uc003jmj.4	-	37	4768_4769	c.4278_4279G>TG	c.(4276-4281)tttgctfs	p.F1426fs	HEATR7B2_uc003jmi.4_Frame_Shift_Ins_p.F981fs	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1426							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						ATTTCTTCAGCAAAAAAAATCT	0.46													A	41000853	-	A	41000852	7	5	4	1	0	1	1	0	0	0	0	0	7035	127	5	0	499	0	HEATR7B2	5	41000852	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	41175	41000852	139914408	1269	3334											
FBXO4	26272	broad.mit.edu	37	chr5	41927346	41927346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcattttttgactacatgGcagtgtaagtatctagtttt	9	5	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:41927346G>A	uc003jmq.3	+	1	477	c.421G>A	c.(421-423)Gca>Aca	p.A141T	FBXO4_uc003jmp.3_Missense_Mutation_p.A141T	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN	Homo sapiens F-box protein 4 (FBXO4), transcript variant 1, mRNA.	141					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein polyubiquitination|telomere maintenance|ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex|cytoplasm	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	p.M140L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TGACTACATGGCAGTGTAAGT	0.348													A	41927346	G	A	41927346	3	1	4	1	0	0	0	0	1	0	0	0	5748	1203	42	2	427	2	FBXO4	5	41927346	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	926494	41927346	138987914	1270	3335											
SEPP1	6414	broad.mit.edu	37	chr5	42801362	42801362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcatgatggtaatgaggCgatggagtttcaactgtttt	12	5	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:42801362C>T	uc011cps.2	-	5	794	c.696G>A	c.(694-696)tcG>tcA	p.S232S	CCDC152_uc003jmx.3_3'UTR|CCDC152_uc011cpr.1_3'UTR|SEPP1_uc011cpt.2_Silent_p.S202S|SEPP1_uc011cpu.2_Silent_p.S202S|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	202					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						GGTAATGAGGCGATGGAGTTT	0.403													T	42801362	C	T	42801362	2	4	4	1	0	0	0	0	0	0	0	1	14057	755	27	1		1	SEPP1	5	42801362	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	874016	42801362	138113898	1271	3336											
CCL28	56477	broad.mit.edu	37	chr5	43388544	43388544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaaatatgatgtgaaacCtccgtgcaacagctggaggc	12	9	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:43388544C>T	uc003jnu.3	-	1	169	c.99G>A	c.(97-99)gaG>gaA	p.E33E	CCL28_uc003jns.3_Non-coding_Transcript|CCL28_uc003jnt.3_Non-coding_Transcript|CCL28_uc010ivn.3_5'UTR|CCL28_uc021xyh.1_Silent_p.E33E	NM_148672	NP_683513	Q9NRJ3	CCL28_HUMAN	Homo sapiens chemokine (C-C motif) ligand 28 (CCL28), mRNA.	33					chemotaxis|immune response	extracellular space	chemokine activity			kidney(3)|lung(3)|ovary(1)	7						GATGTGAAACCTCCGTGCAAC	0.433													T	43388544	C	T	43388544	2	4	4	1	0	0	0	0	0	0	0	1	2900	680	24	4		4	CCL28	5	43388544	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	587182	43388544	137526716	1272	3337											
C5orf34	375444	broad.mit.edu	37	chr5	43494677	43494677	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctatctggaggaaggttAtttactgagtaagttttctc	11	5	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:43494677A>G	uc003jnz.2	-	6	1581	c.1179T>C	c.(1177-1179)aaT>aaC	p.N393N		NM_198566	NP_940968	Q96MH7	CE034_HUMAN	Homo sapiens chromosome 5 open reading frame 34 (C5orf34), mRNA.	393										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					GAGGAAGGTTATTTACTGAGT	0.323													G	43494677	A	G	43494677	2	3	4	1	0	0	0	0	0	0	0	1	2293	446	16	3		3	C5orf34	5	43494677	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	106133	43494677	137420583	1273	3338											
FGF10	2255	broad.mit.edu	37	chr5	44305128	44305128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccattggaagaaagtgaGcagaggtgtttttccttcgt	11	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:44305128G>A	uc003jog.1	-	2	596	c.596C>T	c.(595-597)gCt>gTt	p.A199V		NM_004465	NP_004456	O15520	FGF10_HUMAN	Homo sapiens fibroblast growth factor 10 (FGF10), mRNA.	199					ERK1 and ERK2 cascade|actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of Ras protein signal transduction|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AAGAAAGTGAGCAGAGGTGTT	0.433													A	44305128	G	A	44305128	3	1	4	1	0	0	0	0	1	0	0	0	5839	971	34	2	34	2	FGF10	5	44305128	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	810451	44305128	136610132	1274	3339											
MRPS30	10884	broad.mit.edu	37	chr5	44811197	44811197	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtcgaattgatgacttgCgataccagatagatgataaa	11	5	0	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:44811197C>T	uc003joh.3	+	1	726	c.688C>T	c.(688-690)Cga>Tga	p.R230*	MRPS30_uc003joi.1_Non-coding_Transcript	NM_016640	NP_057724	Q9NP92	RT30_HUMAN	Homo sapiens mitochondrial ribosomal protein S30 (MRPS30), nuclear gene encoding mitochondrial protein, mRNA.	230					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TGATGACTTGCGATACCAGAT	0.383													T	44811197	C	T	44811197	4	4	4	1	0	0	0	0	0	1	0	0	9840	760	27	1	694	1	MRPS30	5	44811197	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	506069	44811197	136104063	1275	3340											
HCN1	348980	broad.mit.edu	37	chr5	45267276	45267276	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacctcgttgaaattgtcCacggaaagtgagtaaagacg	12	7	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:45267276C>T	uc003jok.3	-	6	1723	c.1698G>A	c.(1696-1698)gtG>gtA	p.V566V		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	566						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.V566L(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGAAATTGTCCACGGAAAGTG	0.433													T	45267276	C	T	45267276	2	4	4	1	0	0	0	0	0	0	0	1	6996	581	21	4		4	HCN1	5	45267276	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	456079	45267276	135647984	1276	3341											
ISL1	3670	broad.mit.edu	37	chr5	50687126	50687126	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaatatccaggggatgacaGgaactcccatggtggctgcc	13	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:50687126G>T	uc003jor.3	+	4	1332	c.784G>T	c.(784-786)Gga>Tga	p.G262*		NM_002202	NP_002193	P61371	ISL1_HUMAN	Homo sapiens ISL LIM homeobox 1 (ISL1), mRNA.	262	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GGGGATGACAGGAACTCCCAT	0.512													T	50687126	G	T	50687126	4	4	4	1	0	0	0	0	0	1	0	0	7856	1001	35	5	802	5	ISL1	5	50687126	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5419850	50687126	130228134	1277	3342											
PELO	53918	broad.mit.edu	37	chr5	52096901	52096901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgactacctgtttcaacaaGcagtgaagaccgacaacaaa	8	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:52096901G>A	uc003jos.3	+	1	1658	c.673G>A	c.(673-675)Gca>Aca	p.A225T	ITGA1_uc003jou.3_Intron|ITGA1_uc003jov.3_Intron	NM_015946	NP_057030	Q9BRX2	PELO_HUMAN	Homo sapiens pelota homolog (Drosophila) (PELO), mRNA.	225					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GTTTCAACAAGCAGTGAAGAC	0.478													A	52096901	G	A	52096901	3	1	4	1	0	0	0	0	1	0	0	0	11724	971	34	2	675	2	PELO	5	52096901	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1409775	52096901	128818359	1278	3343											
SNX18	112574	broad.mit.edu	37	chr5	53815142	53815142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacggccaacgagttcgcgCgcaagcaggtgaccggcttc	13	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:53815142C>T	uc003jpj.4	+	0	1550	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C	SNX18_uc011cqg.2_Missense_Mutation_p.R454C|SNX18_uc003jpi.4_Missense_Mutation_p.R454C	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	Homo sapiens sorting nexin 18 (SNX18), transcript variant 2, mRNA.	454	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CGAGTTCGCGCGCAAGCAGGT	0.607													T	53815142	C	T	53815142	3	4	4	1	0	0	0	0	1	0	0	0	14889	768	27	1	1362	1	SNX18	5	53815142	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1718241	53815142	127100118	1279	3344											
DDX4	54514	broad.mit.edu	37	chr5	55082359	55082359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcagacttttgaagaagCtaatctctgtcagacactga	7	8	3	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:55082359C>T	uc003jqg.4	+	13	977	c.878C>T	c.(877-879)gCt>gTt	p.A293V	DDX4_uc010ivz.3_Missense_Mutation_p.A273V|DDX4_uc003jqh.4_Missense_Mutation_p.A259V|DDX4_uc003jqj.3_Missense_Mutation_p.A144V	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	293					multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTGAAGAAGCTAATCTCTGT	0.323													T	55082359	C	T	55082359	3	4	4	1	0	0	0	0	1	0	0	0	4360	797	28	2	969	2	DDX4	5	55082359	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1267217	55082359	125832901	1280	3345											
MAP3K1	4214	broad.mit.edu	37	chr5	56155650	56155650	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaccagcttccaaaggcCgacgcagtccttctcctggc	8	17	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:56155650C>T	uc003jqw.4	+	2	1243	c.742C>T	c.(742-744)Cga>Tga	p.R248*		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	248					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TTCCAAAGGCCGACGCAGTCC	0.507													T	56155650	C	T	56155650	4	4	4	1	0	0	0	0	0	1	0	0	9243	644	23	1	752	1	MAP3K1	5	56155650	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1073291	56155650	124759610	1281	3346											
GPBP1	65056	broad.mit.edu	37	chr5	56542211	56542211	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacttacagctatctggatTcccagtagtaggaaatcttc	8	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:56542211T>C	uc003jrk.4	+	5	641	c.584T>C	c.(583-585)tTc>tCc	p.F195S	GPBP1_uc003jrh.4_Missense_Mutation_p.F188S|GPBP1_uc003jri.4_Missense_Mutation_p.F17S|GPBP1_uc003jrj.4_Missense_Mutation_p.F195S|GPBP1_uc021xyv.1_Missense_Mutation_p.F17S	NM_001127236	NP_001190175	Q86WP2	GPBP1_HUMAN	Homo sapiens GC-rich promoter binding protein 1 (GPBP1), transcript variant 2, mRNA.	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		CTATCTGGATTCCCAGTAGTA	0.403													C	56542211	T	C	56542211	3	2	4	1	0	0	0	0	1	0	0	0	6595	1783	62	3	606	3	GPBP1	5	56542211	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	386561	56542211	124373049	1282	3347											
RAB3C	115827	broad.mit.edu	37	chr5	58120962	58120962	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgggtcatctcaactgagCgaggtcaacatttaggagaa	12	8	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:58120962C>T	uc003jrp.3	+	3	566	c.469C>T	c.(469-471)Cga>Tga	p.R157*		NM_138453	NP_612462	Q96E17	RAB3C_HUMAN	Homo sapiens RAB3C, member RAS oncogene family (RAB3C), mRNA.	157					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		CTCAACTGAGCGAGGTCAACA	0.388													T	58120962	C	T	58120962	4	4	4	1	0	0	0	0	0	1	0	0	12933	760	27	1	483	1	RAB3C	5	58120962	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1578751	58120962	122794298	1283	3348											
NLN	57486	broad.mit.edu	37	chr5	65118709	65118709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtgagccaaaccaaaaagCgttcctaatgagtagaggcc	10	10	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:65118709C>T	uc003juf.3	+	12	2259	c.2081C>T	c.(2080-2082)gCg>gTg	p.A694V	NLN_uc010iww.3_Missense_Mutation_p.A371V	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	Homo sapiens neurolysin (metallopeptidase M3 family) (NLN), nuclear gene encoding mitochondrial protein, mRNA.	694					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	p.K693fs*6(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AACCAAAAAGCGTTCCTAATG	0.493													T	65118709	C	T	65118709	3	4	4	1	0	0	0	0	1	0	0	0	10467	768	27	1	2131	1	NLN	5	65118709	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	6997747	65118709	115796551	1284	3349											
ERBB2IP	55914	broad.mit.edu	37	chr5	65340041	65340041	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaactgttcaaaccattgTacatagattaaaagatgaag	6	6	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:65340041T>C	uc003juk.2	+	16	1815	c.1505T>C	c.(1504-1506)gTa>gCa	p.V502A	ERBB2IP_uc011cqx.2_Missense_Mutation_p.V502A|ERBB2IP_uc003jui.2_Missense_Mutation_p.V502A|ERBB2IP_uc003jul.2_Missense_Mutation_p.V502A|ERBB2IP_uc011cqy.2_Missense_Mutation_p.V502A|ERBB2IP_uc003juj.2_Missense_Mutation_p.V502A|ERBB2IP_uc011cqz.2_Intron|ERBB2IP_uc010iwx.2_Missense_Mutation_p.V502A	NM_001253697	NP_001240626	Q96RT1	LAP2_HUMAN	Homo sapiens erbb2 interacting protein (ERBB2IP), transcript variant 1, mRNA.	502					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CAAACCATTGTACATAGATTA	0.323													C	65340041	T	C	65340041	3	2	4	1	0	0	0	0	1	0	0	0	5207	1638	57	3	1563	3	ERBB2IP	5	65340041	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	221332	65340041	115575219	1285	3350											
ERBB2IP	55914	broad.mit.edu	37	chr5	65349316	65349316	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggaaaagttcaaagctcatGataaaaaagattttaactta	6	4	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:65349316G>A	uc003juk.2	+	20	2480	c.2170G>A	c.(2170-2172)Gat>Aat	p.D724N	ERBB2IP_uc011cqx.2_Missense_Mutation_p.D724N|ERBB2IP_uc003jui.2_Missense_Mutation_p.D724N|ERBB2IP_uc003jul.2_Missense_Mutation_p.D720N|ERBB2IP_uc011cqy.2_Missense_Mutation_p.D724N|ERBB2IP_uc003juj.2_Missense_Mutation_p.D724N|ERBB2IP_uc011cqz.2_Intron|ERBB2IP_uc010iwx.2_Missense_Mutation_p.D720N	NM_001253697	NP_001240626	Q96RT1	LAP2_HUMAN	Homo sapiens erbb2 interacting protein (ERBB2IP), transcript variant 1, mRNA.	724					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CAAAGCTCATGATAAAAAAGA	0.303													A	65349316	G	A	65349316	3	1	4	1	0	0	0	0	1	0	0	0	5207	1290	45	4	2244	4	ERBB2IP	5	65349316	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	9275	65349316	115565944	1286	3351											
MAST4	375449	broad.mit.edu	37	chr5	66396393	66396393	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaacagatgcaggaacacgcCgatgcgcccccgttcccgaa	11	15	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:66396393C>A	uc021xzk.1	+	7	1351	c.1043C>A	c.(1042-1044)cCg>cAg	p.P348Q	MAST4_uc003jus.3_Missense_Mutation_p.P159Q|MAST4_uc003jut.2_Missense_Mutation_p.P159Q|MAST4_uc003juu.1_Missense_Mutation_p.P169Q|MAST4_uc011cra.1_Missense_Mutation_p.P142Q|MAST4_uc010ixa.2_Non-coding_Transcript|MAST4_uc003juv.2_Missense_Mutation_p.P154Q|MAST4_uc003juw.3_Missense_Mutation_p.P154Q	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	351						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.P351L(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGGAACACGCCGATGCGCCCC	0.473													A	66396393	C	A	66396393	3	1	4	1	0	0	0	0	1	0	0	0	9327	652	23	5	1203	5	MAST4	5	66396393	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1047077	66396393	114518867	1287	3352											
MAST4	375449	broad.mit.edu	37	chr5	66448493	66448493	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtttcccctctgggaagTccaatgtctccccattccct	7	16	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:66448493T>C	uc021xzk.1	+	24	3632	c.3324T>C	c.(3322-3324)agT>agC	p.S1108S	MAST4_uc003jut.2_Silent_p.S919S|MAST4_uc003juw.3_Silent_p.S847S	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1111	Ser-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CTCTGGGAAGTCCAATGTCTC	0.537													C	66448493	T	C	66448493	2	2	4	1	0	0	0	0	0	0	0	1	9327	1664	58	3		3	MAST4	5	66448493	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	52100	66448493	114466767	1288	3353											
MAST4	375449	broad.mit.edu	37	chr5	66460439	66460439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctggacattgctctcctgtCcggacctcaggcctccaaga	9	15	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:66460439C>T	uc021xzk.1	+	28	5740	c.5432C>T	c.(5431-5433)tCc>tTc	p.S1811F	MAST4_uc003jut.2_Missense_Mutation_p.S1622F|MAST4_uc003juw.3_Missense_Mutation_p.S1550F|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1814						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCTCTCCTGTCCGGACCTCAG	0.602													T	66460439	C	T	66460439	3	4	4	1	0	0	0	0	1	0	0	0	9327	855	30	4	5676	4	MAST4	5	66460439	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	11946	66460439	114454821	1289	3354											
PIK3R1	5295	broad.mit.edu	37	chr5	67589576	67589576	+	Frame_Shift_Del	DEL	A	A	-													ataatattgaagctgtagggAaaaaattacatgaatataac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:67589575_67589575GA>G	uc003jva.3	+	10	1918	c.1338_1338GA>G	c.(1336-1338)gggfs	p.G446fs	PIK3R1_uc003jvc.3_Frame_Shift_Del_p.G146fs|PIK3R1_uc003jvd.3_Frame_Shift_Del_p.G176fs|PIK3R1_uc003jve.3_Frame_Shift_Del_p.G125fs|PIK3R1_uc021xzn.1_Frame_Shift_Del_p.G83fs|PIK3R1_uc011crb.2_Frame_Shift_Del_p.G116fs	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	446					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G446_Y452>VI(2)|p.D434_Q475del(2)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAGCTGTAGGGAAAAAATTAC	0.279			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67589576	A	-	67589576	7	5	4	1	0	1	0	1	0	0	0	0	11918	247	9	0	1507	0	PIK3R1	5	67589576	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	1129137	67589576	113325684	1290	3355											
BDP1	55814	broad.mit.edu	37	chr5	70805292	70805292	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccttttttttttatagCgttcaagagaataataaggc	7	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:70805292C>T	uc003kbp.1	+	17	2636	c.2373_splice	c.e17-1	p.S791_splice	BDP1_uc003kbn.1_Splice_Site_p.S791_splice|BDP1_uc003kbo.3_Splice_Site_p.S791_splice	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	791					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTTTTTATAGCGTTCAAGAGA	0.378													T	70805292	C	T	70805292	5	4	4	1	0	0	0	0	0	0	1	0	1395	782	27	1	2439	1	BDP1	5	70805292	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3215716	70805292	110109968	1291	3356											
CARTPT	9607	broad.mit.edu	37	chr5	71016372	71016372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcagtgaggaaaggggCaaggatcgggaagctgtgtg	20	4	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:71016372C>T	uc003kbv.2	+	2	412	c.281C>T	c.(280-282)gCa>gTa	p.A94V		NM_004291	NP_004282	Q16568	CART_HUMAN	Homo sapiens CART prepropeptide (CARTPT), mRNA.	94					activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	AGGAAAGGGGCAAGGATCGGG	0.532													T	71016372	C	T	71016372	3	4	4	1	0	0	0	0	1	0	0	0	2659	710	25	2	291	2	CARTPT	5	71016372	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	211080	71016372	109898888	1292	3357											
MAP1B	4131	broad.mit.edu	37	chr5	71491738	71491738	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggtcgatgtaacaaaGgacatcaagcctcagctgga	12	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:71491738G>T	uc003kbw.4	+	4	2797	c.2556G>T	c.(2554-2556)aaG>aaT	p.K852N	MAP1B_uc010iyw.1_Missense_Mutation_p.K869N|MAP1B_uc010iyx.1_Missense_Mutation_p.K726N|MAP1B_uc010iyy.1_Missense_Mutation_p.K726N	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	852						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATGTAACAAAGGACATCAAGC	0.478													T	71491738	G	T	71491738	3	4	4	1	0	0	0	0	1	0	0	0	9228	991	35	5	2574	5	MAP1B	5	71491738	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	475366	71491738	109423522	1293	3358											
ZNF366	167465	broad.mit.edu	37	chr5	71743088	71743088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgggaatgaaggccccGctccatgactccatgcttga	10	13	0	3	rs144490986		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:71743088G>A	uc003kce.1	-	3	1867	c.1681C>T	c.(1681-1683)Cgg>Tgg	p.R561W		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E560E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGAAGGCCCCGCTCCATGACT	0.507													A	71743088	G	A	71743088	3	1	4	1	0	0	0	0	1	0	0	0	17867	1086	38	1	561	1	ZNF366	5	71743088	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	251350	71743088	109172172	1294	3359											
TMEM171	134285	broad.mit.edu	37	chr5	72427511	72427511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgaagaaaaagaaaatgCtgcagctacattcttgcctc	7	8	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:72427511C>T	uc003kcm.2	+	3	1133	c.929C>T	c.(928-930)gCt>gTt	p.A310V	TMEM171_uc003kcn.3_Missense_Mutation_p.A309V	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	Homo sapiens transmembrane protein 171 (TMEM171), transcript variant 1, mRNA.	310						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		AAAGAAAATGCTGCAGCTACA	0.383													T	72427511	C	T	72427511	3	4	4	1	0	0	0	0	1	0	0	0	16085	797	28	2	939	2	TMEM171	5	72427511	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	684423	72427511	108487749	1295	3360											
RGNEF	64283	broad.mit.edu	37	chr5	73069726	73069726	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctggctatgagatggggCctggctaaactttcccagtt	11	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:73069726C>T	uc010izf.3	+	4	698	c.522C>T	c.(520-522)ggC>ggT	p.G174G	RGNEF_uc011csq.2_Silent_p.G174G|RGNEF_uc003kcy.1_Silent_p.G174G|RGNEF_uc021yam.1_Silent_p.G174G	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	174					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TGAGATGGGGCCTGGCTAAAC	0.458													T	73069726	C	T	73069726	2	4	4	1	0	0	0	0	0	0	0	1	13283	726	26	2		2	RGNEF	5	73069726	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	642215	73069726	107845534	1296	3361											
ENC1	8507	broad.mit.edu	37	chr5	73931937	73931937	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttgaaactccagcatgTcaccagcttccaggagcgat	9	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:73931937T>C	uc003kdc.4	-	1	1505	c.374A>G	c.(373-375)gAc>gGc	p.D125G	ENC1_uc011css.2_Missense_Mutation_p.D52G|ENC1_uc021yao.1_Missense_Mutation_p.D125G	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	125				INEENAESLLEAGDMLEFQ -> HQLEGKCRNSLLGSLVTC WSFK (in Ref. 1).	nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CTCCAGCATGTCACCAGCTTC	0.527													C	73931937	T	C	73931937	3	2	4	1	0	0	0	0	1	0	0	0	5113	1667	58	3	1399	3	ENC1	5	73931937	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	862211	73931937	106983323	1297	3362											
IQGAP2	10788	broad.mit.edu	37	chr5	75893291	75893291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtggaccatatcaatgCtgtcattccggaaggtgacc	11	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:75893291C>T	uc003kek.3	+	9	1157	c.935C>T	c.(934-936)gCt>gTt	p.A312V		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	312					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CATATCAATGCTGTCATTCCG	0.532													T	75893291	C	T	75893291	3	4	4	1	0	0	0	0	1	0	0	0	7815	797	28	2	973	2	IQGAP2	5	75893291	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1961354	75893291	105021969	1298	3363											
IQGAP2	10788	broad.mit.edu	37	chr5	75967720	75967720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtggtaaaagagatcatcGacgacaagtcgctgattatc	10	8	1	2	rs138211969	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:75967720G>A	uc003kek.3	+	23	3202	c.2980G>A	c.(2980-2982)Gac>Aac	p.D994N	IQGAP2_uc010izv.2_Missense_Mutation_p.D547N|IQGAP2_uc011csv.2_Missense_Mutation_p.D490N|IQGAP2_uc003kel.3_Missense_Mutation_p.D490N|IQGAP2_uc010izw.1_5'Flank	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	994	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGAGATCATCGACGACAAGTC	0.498													A	75967720	G	A	75967720	3	1	4	1	0	0	0	0	1	0	0	0	7815	1058	37	1	3074	1	IQGAP2	5	75967720	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	74429	75967720	104947540	1299	3364											
WDR41	55255	broad.mit.edu	37	chr5	76729078	76729078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagatgatcagcggagcacGtcactagtccatgatcttca	10	10	4	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:76729078G>A	uc003kff.1	-	12	1549	c.1262C>T	c.(1261-1263)aCg>aTg	p.T421M	WDR41_uc011csy.1_Missense_Mutation_p.T363M|WDR41_uc011csz.1_Missense_Mutation_p.T366M	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	Homo sapiens WD repeat domain 41 (WDR41), mRNA.	421								p.T421T(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		AGCGGAGCACGTCACTAGTCC	0.368													A	76729078	G	A	76729078	3	1	4	1	0	0	0	0	1	0	0	0	17291	1145	40	1	121	1	WDR41	5	76729078	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	761358	76729078	104186182	1300	3365											
BHMT2	23743	broad.mit.edu	37	chr5	78379533	78379533	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggggtcaggtacattggCgggtgctgtggatttgagcc	18	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:78379533C>T	uc003kft.3	+	6	923	c.864C>T	c.(862-864)ggC>ggT	p.G288G	BHMT2_uc011cth.2_Silent_p.G224G	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase 2 (BHMT2), transcript variant 1, mRNA.	288	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GGTACATTGGCGGGTGCTGTG	0.522													T	78379533	C	T	78379533	2	4	4	1	0	0	0	0	0	0	0	1	1426	755	27	1		1	BHMT2	5	78379533	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1650455	78379533	102535727	1301	3366											
BHMT	635	broad.mit.edu	37	chr5	78415085	78415085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcattcactctcccagttcGccagcttcatcgagagttcc	6	16	4	1	rs147391267		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:78415085G>A	uc003kfu.4	+	2	275	c.170G>A	c.(169-171)cGc>cAc	p.R57H	BHMT_uc011cti.2_Intron	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA.	57	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CTCCCAGTTCGCCAGCTTCAT	0.443													A	78415085	G	A	78415085	3	1	4	1	0	0	0	0	1	0	0	0	1425	1087	38	1	180	1	BHMT	5	78415085	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	35552	78415085	102500175	1302	3367											
THBS4	7060	broad.mit.edu	37	chr5	79357547	79357547	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccctgctacccgggcgtGcactgcataaatttgtctcc	8	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:79357547G>A	uc021yaw.1	+	7	1208	c.1017G>A	c.(1015-1017)gtG>gtA	p.V339V		NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	339	EGF-like 2; calcium-binding (Potential).				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACCCGGGCGTGCACTGCATAA	0.488													A	79357547	G	A	79357547	2	1	4	1	0	0	0	0	0	0	0	1	15853	1306	46	2		2	THBS4	5	79357547	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	942462	79357547	101557713	1303	3368											
SERINC5	256987	broad.mit.edu	37	chr5	79498704	79498704	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaacacggacaaacttaCgtgctctttcatcttgtgag	9	10	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:79498704C>T	uc011ctj.2	-	2	352	c.195_splice	c.e2+1	p.H65_splice	SERINC5_uc003kgj.3_Splice_Site_p.H65_splice|SERINC5_uc003kgm.3_Splice_Site_p.H65_splice|SERINC5_uc003kgk.3_Splice_Site_p.H65_splice|SERINC5_uc003kgl.3_Splice_Site	NM_001174072	NP_001167543	Q86VE9	SERC5_HUMAN	Homo sapiens serine incorporator 5 (SERINC5), transcript variant 1, mRNA.	65					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane		p.?(2)		endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GACAAACTTACGTGCTCTTTC	0.493													T	79498704	C	T	79498704	5	4	4	1	0	0	0	0	0	0	1	0	14083	550	19	1	1271	1	SERINC5	5	79498704	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	141157	79498704	101416556	1304	3369											
ZFYVE16	9765	broad.mit.edu	37	chr5	79733039	79733039	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctccctgtgtttcttcaacaGaccatgatagtgatactgtc	7	11	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:79733039G>A	uc003kgr.4	+	3	837	c.535G>A	c.(535-537)Gac>Aac	p.D179N	ZFYVE16_uc010jak.2_Missense_Mutation_p.D179N|ZFYVE16_uc003kgp.3_Missense_Mutation_p.D179N|ZFYVE16_uc003kgq.4_Missense_Mutation_p.D179N|ZFYVE16_uc003kgs.4_Missense_Mutation_p.D179N	NM_001105251	NP_055548	Q7Z3T8	ZFY16_HUMAN	Homo sapiens zinc finger, FYVE domain containing 16 (ZFYVE16), transcript variant 2, mRNA.	179					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TTCTTCAACAGACCATGATAG	0.328													A	79733039	G	A	79733039	3	1	4	1	0	0	0	0	1	0	0	0	17661	942	33	4	541	4	ZFYVE16	5	79733039	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	234335	79733039	101182221	1305	3370											
CKMT2	1160	broad.mit.edu	37	chr5	80548572	80548572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgagtgcctcacccccGccatttatgccaagcttcgc	9	17	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:80548572G>A	uc003khc.4	+	3	453	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	RNU5E-1_uc011cto.1_Intron|CKMT2_uc010jaq.3_Missense_Mutation_p.A71T|CKMT2_uc003khd.4_Missense_Mutation_p.A71T|LOC100131067_uc003khe.2_Intron|LOC100131067_uc003khf.2_Intron|LOC100131067_uc003khg.2_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	Homo sapiens creatine kinase, mitochondrial 2 (sarcomeric) (CKMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	71	Phosphagen kinase N-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	p.A71T(4)|p.A71A(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CCTCACCCCCGCCATTTATGC	0.612													A	80548572	G	A	80548572	3	1	4	1	0	0	0	0	1	0	0	0	3451	1087	38	1	217	1	CKMT2	5	80548572	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	815533	80548572	100366688	1306	3371											
XRCC4	7518	broad.mit.edu	37	chr5	82406986	82406986	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttttctaaagagtcttgTtatttcttctttgagaaaaa	5	4	4	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:82406986T>C	uc003kib.3	+	2	407	c.279T>C	c.(277-279)tgT>tgC	p.C93C	XRCC4_uc003kia.1_Silent_p.C93C|XRCC4_uc003kic.3_Silent_p.C93C|XRCC4_uc003kid.3_Silent_p.C93C|XRCC4_uc003kie.3_Silent_p.C93C	NM_022406	NP_071801	Q13426	XRCC4_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 4 (XRCC4), transcript variant 2, mRNA.	93					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|cytosol|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		AAGAGTCTTGTTATTTCTTCT	0.323								Non-homologous end-joining					C	82406986	T	C	82406986	2	2	4	1	0	0	0	0	0	0	0	1	17452	1731	60	3		3	XRCC4	5	82406986	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1858414	82406986	98508274	1307	3372											
MEF2C	4208	broad.mit.edu	37	chr5	88100421	88100421	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatgctctctcacctccacGatgtctgagtttgtccggct	9	14	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:88100421G>A	uc003kjl.3	-	3	681	c.252C>T	c.(250-252)atC>atT	p.I84I	MEF2C_uc021ybg.1_Silent_p.I84I|MEF2C_uc021ybh.1_Silent_p.I84I|MEF2C_uc003kji.2_Silent_p.I84I|MEF2C_uc003kjj.3_Silent_p.I84I|MEF2C_uc003kjk.3_Silent_p.I84I|MEF2C_uc003kjm.3_Silent_p.I84I	NM_001193347	NP_001180276	Q06413	MEF2C_HUMAN	Homo sapiens myocyte enhancer factor 2C (MEF2C), transcript variant 3, mRNA.	84					B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TCACCTCCACGATGTCTGAGT	0.547										HNSCC(66;0.2)			A	88100421	G	A	88100421	2	1	4	1	0	0	0	0	0	0	0	1	9457	1048	37	1		1	MEF2C	5	88100421	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5693435	88100421	92814839	1308	3373											
POLR3G	10622	broad.mit.edu	37	chr5	89781409	89781409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggaataaaggaagaggaCgtgctgcttatacctttaat	11	6	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:89781409C>T	uc003kjq.3	+	1	225	c.25C>T	c.(25-27)Cgt>Tgt	p.R9C	POLR3G_uc011cuc.2_Missense_Mutation_p.R9C	NM_006467	NP_006458	O15318	RPC7_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide G (32kD) (POLR3G), mRNA.	9					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA-directed RNA polymerase activity			cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		AGGAAGAGGACGTGCTGCTTA	0.393													T	89781409	C	T	89781409	3	4	4	1	0	0	0	0	1	0	0	0	12234	536	19	1	27	1	POLR3G	5	89781409	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1680988	89781409	91133851	1309	3374											
MCTP1	79772	broad.mit.edu	37	chr5	94267673	94267673	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attaccttacttgatcttttCcaactcttcctcattagcat	2	12	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:94267673C>T	uc003kkx.2	-	5	1197	c.1197G>A	c.(1195-1197)tgG>tgA	p.W399*	MCTP1_uc003kkv.2_Nonsense_Mutation_p.W178*|MCTP1_uc003kkw.2_Nonsense_Mutation_p.W178*|MCTP1_uc003kkz.2_Nonsense_Mutation_p.W60*|MCTP1_uc003kku.2_5'Flank	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	399					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTGATCTTTTCCAACTCTTCC	0.358													T	94267673	C	T	94267673	4	4	4	1	0	0	0	0	0	1	0	0	9400	856	30	4	1874	4	MCTP1	5	94267673	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4486264	94267673	86647587	1310	3375											
RHOBTB3	22836	broad.mit.edu	37	chr5	95072640	95072640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgaaatctaattgggggCgctgacatcattgtgatcaa	10	8	4	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:95072640C>T	uc003klm.3	+	2	813	c.276C>T	c.(274-276)ggC>ggT	p.G92G	RHOBTB3_uc003klk.1_5'UTR	NM_014899	NP_055714	O94955	RHBT3_HUMAN	Homo sapiens Rho-related BTB domain containing 3 (RHOBTB3), mRNA.	92	Rho-like.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TAATTGGGGGCGCTGACATCA	0.338													T	95072640	C	T	95072640	2	4	4	1	0	0	0	0	0	0	0	1	13335	755	27	1		1	RHOBTB3	5	95072640	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	804967	95072640	85842620	1311	3376											
PCSK1	5122	broad.mit.edu	37	chr5	95728946	95728946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtgagtttttactgaaaGcactttgcaggagtcgcagc	13	8	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:95728946G>A	uc003kls.2	-	13	2260	c.2021C>T	c.(2020-2022)gCt>gTt	p.A674V	PCSK1_uc010jbi.2_Missense_Mutation_p.A364V|PCSK1_uc021ybq.1_Missense_Mutation_p.A627V	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	674					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTACTGAAAGCACTTTGCAG	0.547													A	95728946	G	A	95728946	3	1	4	1	0	0	0	0	1	0	0	0	11600	971	34	2	244	2	PCSK1	5	95728946	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	656306	95728946	85186314	1312	3377											
CHD1	1105	broad.mit.edu	37	chr5	98232112	98232112	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtctgtattgtttttccaaGgcccatttcatcagcgagta	8	10	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:98232112G>T	uc003knf.3	-	10	1676	c.1528C>A	c.(1528-1530)Ctt>Att	p.L510I		NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	510	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GTTTTTCCAAGGCCCATTTCA	0.318													T	98232112	G	T	98232112	3	4	4	1	0	0	0	0	1	0	0	0	3323	1000	35	5	3704	5	CHD1	5	98232112	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2503166	98232112	82683148	1313	3378											
CHD1	1105	broad.mit.edu	37	chr5	98240797	98240797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgacccagaatcatcatccGactggctataatttgaaaat	6	10	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:98240797G>A	uc003knf.3	-	1	207	c.59C>T	c.(58-60)tCg>tTg	p.S20L		NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	20	Ser-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATCATCATCCGACTGGCTATA	0.393													A	98240797	G	A	98240797	3	1	4	1	0	0	0	0	1	0	0	0	3323	1059	37	1	5209	1	CHD1	5	98240797	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	8685	98240797	82674463	1314	3379											
ST8SIA4	7903	broad.mit.edu	37	chr5	100238558	100238558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatttacccgatgagttgCgtctcctggtgctcctcagt	10	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:100238558C>T	uc003knk.3	-	0	430	c.102G>A	c.(100-102)acG>acA	p.T34T	ST8SIA4_uc003knl.3_Silent_p.T34T	NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	34					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CGATGAGTTGCGTCTCCTGGT	0.413													T	100238558	C	T	100238558	2	4	4	1	0	0	0	0	0	0	0	1	15233	755	27	1		1	ST8SIA4	5	100238558	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1997761	100238558	80676702	1315	3380											
SLCO4C1	353189	broad.mit.edu	37	chr5	101592920	101592920	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actccagatgtgaacagtgcAaacttcattgtgtttttaca	7	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:101592920A>G	uc003knm.3	-	7	1655	c.1368T>C	c.(1366-1368)ttT>ttC	p.F456F		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	456					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TGAACAGTGCAAACTTCATTG	0.373													G	101592920	A	G	101592920	2	3	4	1	0	0	0	0	0	0	0	1	14730	127	5	3		3	SLCO4C1	5	101592920	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1354362	101592920	79322340	1316	3381											
PAM	5066	broad.mit.edu	37	chr5	102237087	102237087	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catacttctgcatgtctatgCgaataccagtggatgaggaa	10	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:102237087C>T	uc003knt.3	+	2	611	c.238C>T	c.(238-240)Cga>Tga	p.R80*	PAM_uc003knw.3_Nonsense_Mutation_p.R80*|PAM_uc003kns.3_Nonsense_Mutation_p.R80*|PAM_uc003knu.3_Nonsense_Mutation_p.R80*|PAM_uc011cuz.2_Intron|PAM_uc003knv.3_Nonsense_Mutation_p.R80*	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	80	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CATGTCTATGCGAATACCAGT	0.348													T	102237087	C	T	102237087	4	4	4	1	0	0	0	0	0	1	0	0	11412	760	27	1	248	1	PAM	5	102237087	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	644167	102237087	78678173	1317	3382											
PPIP5K2	23262	broad.mit.edu	37	chr5	102474135	102474135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggtattttacttcctcGttatgctattttgaaccgtg	8	7	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:102474135G>A	uc003kod.4	+	4	968	c.449G>A	c.(448-450)cGt>cAt	p.R150H	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Missense_Mutation_p.R150H|PPIP5K2_uc010jbo.2_Missense_Mutation_p.R72H	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	150					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTACTTCCTCGTTATGCTATT	0.363													A	102474135	G	A	102474135	3	1	4	1	0	0	0	0	1	0	0	0	12333	1145	40	1	463	1	PPIP5K2	5	102474135	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	237048	102474135	78441125	1318	3383											
NUDT12	83594	broad.mit.edu	37	chr5	102891660	102891660	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtatgaggtattatggacGccattgagactaggacagtc	14	6	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:102891660G>A	uc003koi.3	-	3	1029	c.936C>T	c.(934-936)ggC>ggT	p.G312G	NUDT12_uc011cvb.2_Silent_p.G294G	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 12 (NUDT12), mRNA.	312						nucleus|peroxisome	NAD+ diphosphatase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TATTATGGACGCCATTGAGAC	0.378													A	102891660	G	A	102891660	2	1	4	1	0	0	0	0	0	0	0	1	10728	1074	38	1		1	NUDT12	5	102891660	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	417525	102891660	78023600	1319	3384											
APC	324	broad.mit.edu	37	chr5	112137021	112137021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggctcacatgatgctgagCggcagaatgaaggtcaagga	14	9	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:112137021C>T	uc003kpz.4	+	8	968	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	APC_uc011cvt.2_Missense_Mutation_p.R241W|APC_uc003kpy.4_Missense_Mutation_p.R259W|APC_uc010jbz.3_5'UTR	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	259	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGATGCTGAGCGGCAGAATGA	0.368		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			T	112137021	C	T	112137021	3	4	4	1	0	0	0	0	1	0	0	0	763	759	27	1	801	1	APC	5	112137021	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	9245361	112137021	68778239	1320	3385											
SRP19	6728	broad.mit.edu	37	chr5	112203205	112203205	+	Frame_Shift_Del	DEL	A	A	-													ttcaacaaggagagggaagtAaaaaagggaaaggaaagaaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:112203204_112203204TA>T	uc003kqc.3	+	4	594	c.405_405TA>T	c.(403-405)agtfs	p.S135fs	SRP19_uc021yck.1_3'UTR|SRP19_uc003kqb.2_3'UTR|SRP19_uc021ycl.1_Frame_Shift_Del_p.S111fs|SRP19_uc011cvu.2_Intron	NM_003135	NP_003126	P09132	SRP19_HUMAN	Homo sapiens signal recognition particle 19kDa (SRP19), transcript variant 1, mRNA.	135					SRP-dependent cotranslational protein targeting to membrane|response to drug	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding			breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		gagagggaagtaaaaaaggga	0.373													-	112203205	A	-	112203205	7	5	4	1	0	1	0	1	0	0	0	0	15153	363	13	0	424	0	SRP19	5	112203205	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	66184	112203205	68712055	1321	3386											
REEP5	7905	broad.mit.edu	37	chr5	112257795	112257795	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgatgaagctcctgttcacGccggttttggcctcgagctt	12	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:112257795G>A	uc003kqe.1	-	0	237	c.93C>T	c.(91-93)ggC>ggT	p.G31G	REEP5_uc011cvw.1_5'Flank|REEP5_uc011cvx.1_Non-coding_Transcript|REEP5_uc011cvy.1_Silent_p.G31G|REEP5_uc011cvz.1_Non-coding_Transcript	NM_005669	NP_005660	Q00765	REEP5_HUMAN	Homo sapiens receptor accessory protein 5 (REEP5), mRNA.	31						integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		TCCTGTTCACGCCGGTTTTGG	0.662													A	112257795	G	A	112257795	2	1	4	1	0	0	0	0	0	0	0	1	13208	1074	38	1		1	REEP5	5	112257795	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	54590	112257795	68657465	1322	3387											
CCDC112	153733	broad.mit.edu	37	chr5	114611203	114611204	+	Frame_Shift_Del	DEL	TC	TC	-													tgagattgctctgaaagcttTctctgtttctgaattaccca							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:114611202_114611203TTC>T	uc003kqz.2	-	5	846_847	c.628_629GAA>A	c.(628-630)aaafs	p.K210fs	CCDC112_uc003kqy.2_Frame_Shift_Del_p.K127fs|CCDC112_uc003kra.2_Frame_Shift_Del_p.K210fs	NM_001040440	NP_689762	Q8NEF3	CC112_HUMAN	Homo sapiens coiled-coil domain containing 112 (CCDC112), transcript variant 1, mRNA.	127										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TCTGAAAGCTTTCTCTGTTTCT	0.356													-	114611204	TC	-	114611203	7	5	4	1	0	1	0	1	0	0	0	0	2749	1792	62	0	981	0	CCDC112	5	114611203	Frame_Shift_Del	DEL	TC	TCGA-BR-4184-01A-01D-1126-08	2353408	114611203	66304057	1323	3388											
AQPEP	206338	broad.mit.edu	37	chr5	115338603	115338603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttagtctggctagatcaaaGcagcagtaagtaacaaattt	8	6	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:115338603G>A	uc003kro.3	+	10	2056	c.1892G>A	c.(1891-1893)aGc>aAc	p.S631N	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	631					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										CTAGATCAAAGCAGCAGTAAG	0.294													A	115338603	G	A	115338603	3	1	4	1	0	0	0	0	1	0	0	0	834	971	34	2	1934	2	AQPEP	5	115338603	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	727400	115338603	65576657	1324	3389											
SEMA6A	57556	broad.mit.edu	37	chr5	115783256	115783256	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatggcctccggctttgggtCtttggattgagtgtccccaa	13	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:115783256C>A	uc003krx.4	-	19	2906	c.2197G>T	c.(2197-2199)Gac>Tac	p.D733Y	SEMA6A_uc010jck.3_Missense_Mutation_p.D716Y|SEMA6A_uc011cwe.2_Missense_Mutation_p.D95Y|SEMA6A_uc003krv.4_Missense_Mutation_p.D143Y|SEMA6A_uc003krw.4_Missense_Mutation_p.D193Y|SEMA6A_uc010jcj.3_Missense_Mutation_p.D260Y	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	716					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGCTTTGGGTCTTTGGATTGA	0.612													A	115783256	C	A	115783256	3	1	4	1	0	0	0	0	1	0	0	0	14039	913	32	5	950	5	SEMA6A	5	115783256	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	444653	115783256	65132004	1325	3390											
FTMT	94033	broad.mit.edu	37	chr5	121188112	121188112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaagaagccggaacaggacGactgggaaagcgggctgcat	15	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:121188112G>A	uc003kss.3	+	0	463	c.454G>A	c.(454-456)Gac>Aac	p.D152N		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	152	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.D151D(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGAACAGGACGACTGGGAAAG	0.587													A	121188112	G	A	121188112	3	1	4	1	0	0	0	0	1	0	0	0	6085	1058	37	1	456	1	FTMT	5	121188112	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5404856	121188112	59727148	1326	3391											
SNCAIP	9627	broad.mit.edu	37	chr5	121761189	121761189	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agactgcctcaatgagcgcaAcactgagaagttgactccag	10	11	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:121761189A>C	uc003ksw.1	+	4	1351	c.1145A>C	c.(1144-1146)aAc>aCc	p.N382T	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.N382T|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.N429T|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.N76T|SNCAIP_uc010jcx.1_Intron	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	382					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AATGAGCGCAACACTGAGAAG	0.483													C	121761189	A	C	121761189	3	2	4	1	0	0	0	0	1	0	0	0	14841	43	2	5	1159	5	SNCAIP	5	121761189	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	573077	121761189	59154071	1327	3392											
CEP120	153241	broad.mit.edu	37	chr5	122720714	122720714	+	Frame_Shift_Del	DEL	A	A	-													actgttcaccattagaacctAaaaaacgagttttttctgaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:122720713_122720713TA>T	uc003ktk.3	-	11	1811	c.1695_1695TA>A	c.(1693-1695)ttafs	p.L565fs	CEP120_uc010jcz.2_Frame_Shift_Del_p.L539fs|CEP120_uc011cwq.2_Frame_Shift_Del_p.L374fs	NM_153223	NP_001159698	Q8N960	CE120_HUMAN	Homo sapiens centrosomal protein 120kDa (CEP120), transcript variant 1, mRNA.	565						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CATTAGAACCTAAAAAACGAG	0.373													-	122720714	A	-	122720714	7	5	4	1	0	1	0	1	0	0	0	0	3246	372	13	0	1306	0	CEP120	5	122720714	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	959525	122720714	58194546	1328	3393											
CSNK1G3	1456	broad.mit.edu	37	chr5	122950080	122950080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaggaaaaccatacagcGccacaaatgactctggacac	8	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:122950080G>A	uc003ktm.3	+	12	2053	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	CSNK1G3_uc003ktl.3_Missense_Mutation_p.R453H|CSNK1G3_uc003ktn.3_Missense_Mutation_p.R421H|CSNK1G3_uc003kto.3_Missense_Mutation_p.R413H|CSNK1G3_uc011cwr.2_Missense_Mutation_p.R346H|CSNK1G3_uc011cws.2_Missense_Mutation_p.R309H|CSNK1G3_uc010jda.3_Missense_Mutation_p.R422H	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	Homo sapiens casein kinase 1, gamma 3 (CSNK1G3), transcript variant 1, mRNA.	445					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		ACCATACAGCGCCACAAATGA	0.383													A	122950080	G	A	122950080	3	1	4	1	0	0	0	0	1	0	0	0	3956	1087	38	1	1408	1	CSNK1G3	5	122950080	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	229366	122950080	57965180	1329	3394											
ZNF608	57507	broad.mit.edu	37	chr5	123984239	123984239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataagcagatacacttgtgCttggctcactgcattcaagt	8	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:123984239C>T	uc003ktq.1	-	3	2021	c.1838G>A	c.(1837-1839)aGc>aAc	p.S613N	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.S613N|ZNF608_uc003ktt.1_Missense_Mutation_p.S613N	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	613						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TACACTTGTGCTTGGCTCACT	0.522													T	123984239	C	T	123984239	3	4	4	1	0	0	0	0	1	0	0	0	18031	797	28	2	2724	2	ZNF608	5	123984239	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1034159	123984239	56931021	1330	3395											
C5orf48	389320	broad.mit.edu	37	chr5	125971793	125971793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgaatcacagtgaaaggCtttgccatggggaagatcgt	12	6	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:125971793C>T	uc003kub.1	+	2	278	c.265C>T	c.(265-267)Ctt>Ttt	p.L89F		NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN	Homo sapiens chromosome 5 open reading frame 48 (C5orf48), mRNA.	89										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						CAGTGAAAGGCTTTGCCATGG	0.423													T	125971793	C	T	125971793	3	4	4	1	0	0	0	0	1	0	0	0	2306	797	28	2	275	2	C5orf48	5	125971793	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1987554	125971793	54943467	1331	3396											
MEGF10	84466	broad.mit.edu	37	chr5	126755870	126755870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgtgtgcacctggatggCgcggggagaaatgcgaactt	16	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:126755870C>T	uc003kuh.4	+	12	1923	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C	MEGF10_uc010jdc.1_Missense_Mutation_p.R521C|MEGF10_uc010jdd.1_Missense_Mutation_p.R521C|MEGF10_uc003kui.4_Missense_Mutation_p.R521C	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	521	EGF-like 9.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACCTGGATGGCGCGGGGAGAA	0.557													T	126755870	C	T	126755870	3	4	4	1	0	0	0	0	1	0	0	0	9460	768	27	1	1603	1	MEGF10	5	126755870	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	784077	126755870	54159390	1332	3397											
FBN2	2201	broad.mit.edu	37	chr5	127668686	127668686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattcagacatgaggcatgCatgtcgcagttatgagcacc	10	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:127668686C>T	uc003kuu.3	-	31	4579	c.4140G>A	c.(4138-4140)atG>atA	p.M1380I	FBN2_uc003kuv.2_Missense_Mutation_p.M1347I	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1380	EGF-like 22; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATGAGGCATGCATGTCGCAGT	0.383													T	127668686	C	T	127668686	3	4	4	1	0	0	0	0	1	0	0	0	5703	710	25	2	4734	2	FBN2	5	127668686	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	912816	127668686	53246574	1333	3398											
FBN2	2201	broad.mit.edu	37	chr5	127685073	127685073	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtcccatccaacgtaagGccttcagggcactcgcaatg	9	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:127685073G>A	uc003kuu.3	-	22	3394	c.2955C>T	c.(2953-2955)ggC>ggT	p.G985G	FBN2_uc003kuv.2_Silent_p.G952G	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	985	EGF-like 14; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCAACGTAAGGCCTTCAGGGC	0.458													A	127685073	G	A	127685073	2	1	4	1	0	0	0	0	0	0	0	1	5703	1190	42	2		2	FBN2	5	127685073	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	16387	127685073	53230187	1334	3399											
RAPGEF6	51735	broad.mit.edu	37	chr5	130764881	130764881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggctccctatacctatcGtccttcttgggtgaggtgac	12	11	1	2	rs144023710		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:130764881G>A	uc003kvn.2	-	26	4700	c.4494C>T	c.(4492-4494)gaC>gaT	p.D1498D	RAPGEF6_uc003kvp.2_Silent_p.D1548D|RAPGEF6_uc003kvo.2_Intron|RAPGEF6_uc010jdi.2_Silent_p.D1506D|RAPGEF6_uc010jdj.2_Intron|RAPGEF6_uc003kvm.2_Silent_p.D421D	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	1498					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TATACCTATCGTCCTTCTTGG	0.433													A	130764881	G	A	130764881	2	1	4	1	0	0	0	0	0	0	0	1	13048	1136	40	1		1	RAPGEF6	5	130764881	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3079808	130764881	50150379	1335	3400											
P4HA2	8974	broad.mit.edu	37	chr5	131534590	131534590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctagagaagtcgaagtgCggttcatactgtcctcccac	9	13	1	1	rs141851075		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:131534590C>T	uc003kwh.3	-	10	1851	c.1287G>A	c.(1285-1287)ccG>ccA	p.P429P	P4HA2_uc003kwg.3_Silent_p.P429P|P4HA2_uc003kwi.3_Silent_p.P429P|P4HA2_uc003kwk.3_Silent_p.P429P|P4HA2_uc003kwl.3_Silent_p.P429P|P4HA2_uc003kwj.3_Silent_p.P429P	NM_004199	NP_004190	O15460	P4HA2_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA.	429	Fe2OG dioxygenase.					endoplasmic reticulum lumen	L-ascorbic acid binding|electron carrier activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	AGTCGAAGTGCGGTTCATACT	0.483													T	131534590	C	T	131534590	2	4	4	1	0	0	0	0	0	0	0	1	11357	755	27	1		1	P4HA2	5	131534590	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	769709	131534590	49380670	1336	3401											
SLC22A4	6583	broad.mit.edu	37	chr5	131647916	131647916	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctccctgttcttcgtaggCgtgctcctcggctccttcgt	9	16	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:131647916C>T	uc003kwq.3	+	1	621	c.456C>T	c.(454-456)ggC>ggT	p.G152G	SLC22A4_uc010jdq.1_Non-coding_Transcript|LOC553103_uc021ydj.1_Non-coding_Transcript	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	Homo sapiens solute carrier family 22 (organic cation/ergothioneine transporter), member 4 (SLC22A4), mRNA.	152					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|PDZ domain binding|carnitine transporter activity|cation:cation antiporter activity|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TCTTCGTAGGCGTGCTCCTCG	0.587													T	131647916	C	T	131647916	2	4	4	1	0	0	0	0	0	0	0	1	14456	755	27	1		1	SLC22A4	5	131647916	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	113326	131647916	49267344	1337	3402											
KIF3A	11127	broad.mit.edu	37	chr5	132052617	132052617	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcactgcattctatagtaaTtgtaaagatggcatgggaac	9	6	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:132052617T>A	uc011cxf.2	-	5	830	c.676A>T	c.(676-678)Att>Ttt	p.I226F	KIF3A_uc003kxn.3_Missense_Mutation_p.I185F|KIF3A_uc003kxo.3_Missense_Mutation_p.I226F|KIF3A_uc003kxp.3_Missense_Mutation_p.I226F	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	Homo sapiens kinesin family member 3A (KIF3A), mRNA.	226	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTATAGTAATTGTAAAGATG	0.383													A	132052617	T	A	132052617	3	1	4	1	0	0	0	0	1	0	0	0	8300	1493	52	5	1471	5	KIF3A	5	132052617	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	404701	132052617	48862643	1338	3403											
CCNI2	645121	broad.mit.edu	37	chr5	132086668	132086668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggacctctatattgggacGccgctggacttcttgactat	11	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:132086668G>A	uc011cxg.1	+	3	804	c.753G>A	c.(751-753)acG>acA	p.T251T	CCNI2_uc011cxh.1_Silent_p.T252T|CCNI2_uc003kxq.1_Silent_p.T251T|SEPT8_uc003kxr.2_3'UTR	NM_001039780	NP_001034869	Q6ZMN8	CCNI2_HUMAN	Homo sapiens cyclin I family, member 2 (CCNI2), mRNA.	251					regulation of cyclin-dependent protein kinase activity		protein kinase binding			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATATTGGGACGCCGCTGGACT	0.488													A	132086668	G	A	132086668	2	1	4	1	0	0	0	0	0	0	0	1	2927	1074	38	1		1	CCNI2	5	132086668	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	34051	132086668	48828592	1339	3404											
CDKL3	51265	broad.mit.edu	37	chr5	133537696	133537696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctcgaagaatggtgatgCgttcacggtaacgaacctaa	10	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:133537696C>T	uc003kze.3	-	2	727	c.329G>A	c.(328-330)cGc>cAc	p.R110H		NM_002715	NP_002706	Q8IVW4	CDKL3_HUMAN	Homo sapiens protein phosphatase 2, catalytic subunit, alpha isozyme (PPP2CA), mRNA.	0	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATGGTGATGCGTTCACGGTA	0.323													T	133537696	C	T	133537696	3	4	4	1	0	0	0	0	1	0	0	0	3155	768	27	1		1	CDKL3	5	133537696	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1451028	133537696	47377564	1340	3405											
CDKL3	51265	broad.mit.edu	37	chr5	133634349	133634349	+	Frame_Shift_Del	DEL	A	A	-													aaaagaaaagacactaccagAaaaaaaacctgtttctcttc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:133634348_133634348GA>G	uc003kzf.4	-	12	1892	c.1773_1773TC>C	c.(1771-1773)ttcfs	p.F591fs	CDKL3_uc011cxm.1_Intron|CDKL3_uc011cxn.1_Intron|CDKL3_uc010jdw.2_Intron|CDKL3_uc011cxo.1_Intron|CDKL3_uc011cxp.1_Intron|CDKL3_uc011cxq.2_3'UTR	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	Homo sapiens cyclin-dependent kinase-like 3 (CDKL3), transcript variant 1, mRNA.	591						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACACTACCAGAAAAAAAACC	0.358													-	133634349	A	-	133634349	7	5	4	1	0	1	0	1	0	0	0	0	3155	246	9	0	10	0	CDKL3	5	133634349	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	96653	133634349	47280911	1341	3406											
C5orf20	140947	broad.mit.edu	37	chr5	134782488	134782488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggtccctgagggcctcGcagatgcttcactcgaaaga	12	13	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:134782488G>A	uc003lav.3	-	0	551	c.311C>T	c.(310-312)gCg>gTg	p.A104V		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	Homo sapiens chromosome 5 open reading frame 20 (C5orf20), mRNA.	104						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGAGGGCCTCGCAGATGCTTC	0.572													A	134782488	G	A	134782488	3	1	4	1	0	0	0	0	1	0	0	0	2284	1087	38	1	427	1	C5orf20	5	134782488	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1148139	134782488	46132772	1342	3407											
TRPC7	57113	broad.mit.edu	37	chr5	135551934	135551934	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacctgggctttcaggacGtatctttttatgagccgttt	9	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:135551934G>A	uc003lbn.2	-	10	2595	c.2373C>T	c.(2371-2373)taC>taT	p.Y791Y	TRPC7_uc010jef.2_Silent_p.Y727Y|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.Y342Y|TRPC7_uc010jeh.2_Silent_p.Y730Y|TRPC7_uc010jei.2_Silent_p.Y675Y	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	791					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTTCAGGACGTATCTTTTTA	0.473													A	135551934	G	A	135551934	2	1	4	1	0	0	0	0	0	0	0	1	16581	1140	40	1		1	TRPC7	5	135551934	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	769446	135551934	45363326	1343	3408											
NME5	8382	broad.mit.edu	37	chr5	137454523	137454523	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccaaaggatctgctggtTtttgcttacaaagctctgtg	9	8	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:137454523T>G	uc003lce.3	-	4	617	c.539A>C	c.(538-540)aAa>aCa	p.K180T		NM_003551	NP_003542	P56597	NDK5_HUMAN	Homo sapiens non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase) (NME5), mRNA.	180					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|anti-apoptosis|multicellular organismal development|spermatid development		ATP binding|nucleoside diphosphate kinase activity|protein binding			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATCTGCTGGTTTTTGCTTACA	0.413													G	137454523	T	G	137454523	3	3	4	1	0	0	0	0	1	0	0	0	10494	1841	64	5	107	5	NME5	5	137454523	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1902589	137454523	43460737	1344	3409											
CDC23	8697	broad.mit.edu	37	chr5	137527970	137527970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcttaccgaagctggtggGcccgtctataataataaagg	12	8	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:137527970G>A	uc003lcl.3	-	10	1305	c.1274C>T	c.(1273-1275)gCc>gTc	p.A425V		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.	425					G1 phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAGCTGGTGGGCCCGTCTATA	0.433													A	137527970	G	A	137527970	3	1	4	1	0	0	0	0	1	0	0	0	3061	1203	42	2	543	2	CDC23	5	137527970	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	73447	137527970	43387290	1345	3410											
CDC25C	995	broad.mit.edu	37	chr5	137621809	137621809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagacctgtcctcttcacGcagacagcggcacctttaga	9	14	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:137621809G>A	uc003lcs.1	-	12	1608	c.1408C>T	c.(1408-1410)Cgt>Tgt	p.R470C	CDC25C_uc003lcp.1_Missense_Mutation_p.R392C|CDC25C_uc003lcq.1_Missense_Mutation_p.R319C|CDC25C_uc003lcr.1_Missense_Mutation_p.R392C|CDC25C_uc011cyp.1_Missense_Mutation_p.R409C	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	392					DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCTCTTCACGCAGACAGCGG	0.517													A	137621809	G	A	137621809	3	1	4	1	0	0	0	0	1	0	0	0	3064	1087	38	1	255	1	CDC25C	5	137621809	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	93839	137621809	43293451	1346	3411											
KDM3B	51780	broad.mit.edu	37	chr5	137765964	137765964	+	Frame_Shift_Del	DEL	C	C	-													gaagaacaaggccaagagaaCccccctgatcatgacccaat							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:137765963_137765963AC>A	uc003lcy.1	+	21	5119	c.4919_4919AC>A	c.(4918-4920)aacfs	p.N1640fs	KDM3B_uc010jew.1_Frame_Shift_Del_p.N1296fs|KDM3B_uc011cys.1_Frame_Shift_Del_p.N672fs	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1640	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.E1639D(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ggccaagagaacCCCCCTGAT	0.453													-	137765964	C	-	137765964	7	5	4	1	0	1	0	1	0	0	0	0	8127	506	18	0	5006	0	KDM3B	5	137765964	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	144155	137765964	43149296	1347	3412											
REEP2	51308	broad.mit.edu	37	chr5	137776765	137776765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggccgtgaagacaaaaaaCgtgaaggaatatgtgagtgg	14	4	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:137776765C>T	uc003lda.3	+	1	215	c.93C>T	c.(91-93)aaC>aaT	p.N31N	REEP2_uc003lcz.3_Silent_p.N31N|REEP2_uc011cyt.2_5'UTR	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	Homo sapiens receptor accessory protein 2 (REEP2), mRNA.	31						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGACAAAAAACGTGAAGGAAT	0.547													T	137776765	C	T	137776765	2	4	4	1	0	0	0	0	0	0	0	1	13205	535	19	1		1	REEP2	5	137776765	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	10801	137776765	43138495	1348	3413											
ETF1	2107	broad.mit.edu	37	chr5	137848611	137848611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcttttccattcttaaacGggcaaaacgcaaggctgact	8	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:137848611G>A	uc003ldc.4	-	5	739	c.574C>T	c.(574-576)Cgt>Tgt	p.R192C	ETF1_uc011cyv.2_Missense_Mutation_p.R178C|ETF1_uc010jex.3_Non-coding_Transcript|ETF1_uc003ldd.4_Missense_Mutation_p.R159C|ETF1_uc010jey.1_5'UTR	NM_004730	NP_004721	P62495	ERF1_HUMAN	Homo sapiens eukaryotic translation termination factor 1 (ETF1), transcript variant 1, mRNA.	192					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATTCTTAAACGGGCAAAACGC	0.403													A	137848611	G	A	137848611	3	1	4	1	0	0	0	0	1	0	0	0	5268	1116	39	1	763	1	ETF1	5	137848611	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	71846	137848611	43066649	1349	3414											
CXXC5	51523	broad.mit.edu	37	chr5	139060723	139060723	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgaagccctcaatggccaGtccgacttcccctacctggg	10	17	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:139060723G>A	uc010jfg.1	+	1	905	c.615G>A	c.(613-615)caG>caA	p.Q205Q	CXXC5_uc003let.2_Silent_p.Q205Q	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	Homo sapiens CXXC finger protein 5 (CXXC5), mRNA.	205					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAATGGCCAGTCCGACTTCC	0.652													A	139060723	G	A	139060723	2	1	4	1	0	0	0	0	0	0	0	1	4099	1020	36	4		4	CXXC5	5	139060723	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1212112	139060723	41854537	1350	3415											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139908009	139908009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaacgttatctacgttccaGcccgctaataaacttaataa	4	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:139908009G>A	uc003lfs.2	+	28	5632	c.5478G>A	c.(5476-5478)caG>caA	p.Q1826Q	ANKHD1-EIF4EBP3_uc003lfr.3_Silent_p.Q1826Q|ANKHD1-EIF4EBP3_uc011czh.1_Silent_p.Q565Q|ANKHD1-EIF4EBP3_uc003lfw.3_Silent_p.Q464Q|ANKHD1-EIF4EBP3_uc010jfl.3_Silent_p.Q261Q|ANKHD1-EIF4EBP3_uc003lfx.1_5'UTR	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1826						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACGTTCCAGCCCGCTAATA	0.438													A	139908009	G	A	139908009	2	1	4	1	0	0	0	0	0	0	0	1	629	962	34	2		2	ANKHD1-EIF4EBP3	5	139908009	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	847286	139908009	41007251	1351	3416											
SRA1	10011	broad.mit.edu	37	chr5	139930355	139930355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagatttctcttcattgGctgcctcctctgaaaacaga	7	12	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:139930355G>A	uc003lga.3	-	4	1246	c.641C>T	c.(640-642)gCc>gTc	p.A214V	SRA1_uc003lfz.3_Missense_Mutation_p.A140V|SRA1_uc021yef.1_Missense_Mutation_p.A186V|SRA1_uc010jfm.3_Missense_Mutation_p.A140V	NM_001035235	NP_001030312	Q9HD15	SRA1_HUMAN	Homo sapiens steroid receptor RNA activator 1 (SRA1), transcript variant 1, mRNA.	214					apoptosis|cell differentiation|cell proliferation|transcription, DNA-dependent	cytoplasm|ribonucleoprotein complex	receptor activity	p.A213V(1)		endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTTCATTGGCTGCCTCCTC	0.498													A	139930355	G	A	139930355	3	1	4	1	0	0	0	0	1	0	0	0	15131	1203	42	2	73	2	SRA1	5	139930355	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	22346	139930355	40984905	1352	3417											
ZMAT2	153527	broad.mit.edu	37	chr5	140085213	140085213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggaggaaaaggccaaaGcgtacaagaaagagaaacag	12	7	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140085213G>A	uc003lgy.1	+	5	486	c.472G>A	c.(472-474)Gcg>Acg	p.A158T		NM_144723	NP_653324	Q96NC0	ZMAT2_HUMAN	Homo sapiens zinc finger, matrin-type 2 (ZMAT2), mRNA.	158						nucleus	DNA binding|zinc ion binding	p.K157N(1)|p.A158A(1)		breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			aaaggccaaagcgtacaagaa	0.468													A	140085213	G	A	140085213	3	1	4	1	0	0	0	0	1	0	0	0	17689	971	34	2	494	2	ZMAT2	5	140085213	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	154858	140085213	40830047	1353	3418											
PCDHAC2	56134	broad.mit.edu	37	chr5	140166015	140166015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacggcaccttcgttggccGcgttgctcaggacctgggac	13	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140166015G>A	uc003lhb.2	+	0	140	c.140G>A	c.(139-141)cGc>cAc	p.R47H	PCDHAC2_uc003lha.2_Missense_Mutation_p.R47H|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R47H	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	60	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTTGGCCGCGTTGCTCAG	0.632													A	140166015	G	A	140166015	3	1	4	1	0	0	0	0	1	0	0	0	11533	1087	38	1		1	PCDHAC2	5	140166015	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	80802	140166015	40749245	1354	3419											
PCDHAC2	56134	broad.mit.edu	37	chr5	140167729	140167729	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccggcagcaggcggcgcGcgcatcccgttccgcgtggg	17	16	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140167729G>A	uc003lhb.2	+	0	1854	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.A618A	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	629	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGCGGCGCGCGCATCCCGT	0.667													A	140167729	G	A	140167729	2	1	4	1	0	0	0	0	0	0	0	1	11533	1074	38	1		1	PCDHAC2	5	140167729	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1714	140167729	40747531	1355	3420											
PCDHAC2	56134	broad.mit.edu	37	chr5	140175845	140175845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgcacgggacgggggctcGccttcactgtgggccaccac	14	16	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140175845G>A	uc003lhd.2	+	0	1402	c.1296G>A	c.(1294-1296)tcG>tcA	p.S432S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.S432S|PCDHAC2_uc011czy.2_Silent_p.S432S	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	446	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGGGGCTCGCCTTCACTGT	0.627													A	140175845	G	A	140175845	2	1	4	1	0	0	0	0	0	0	0	1	11533	1074	38	1		1	PCDHAC2	5	140175845	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	8116	140175845	40739415	1356	3421											
PCDHAC2	56134	broad.mit.edu	37	chr5	140188422	140188422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctgggcagcaacgtgacGctgcaggtgttcgtgctgga	15	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140188422G>A	uc003lhi.2	+	0	1751	c.1650G>A	c.(1648-1650)acG>acA	p.T550T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.T550T|PCDHAC2_uc011daa.2_Silent_p.T550T	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	564	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAACGTGACGCTGCAGGTGT	0.662													A	140188422	G	A	140188422	2	1	4	1	0	0	0	0	0	0	0	1	11533	1074	38	1		1	PCDHAC2	5	140188422	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	12577	140188422	40726838	1357	3422											
PCDHAC2	56134	broad.mit.edu	37	chr5	140201540	140201540	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctggcggagctggtgccGcgcctgttccgggtggcgtc	19	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140201540G>A	uc003lhl.2	+	0	180	c.180G>A	c.(178-180)ccG>ccA	p.P60P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.P60P|PCDHAC2_uc003lhj.1_Silent_p.P60P	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	74	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.Q49fs*50(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGTGCCGCGCCTGTTCC	0.632													A	140201540	G	A	140201540	2	1	4	1	0	0	0	0	0	0	0	1	11533	1074	38	1		1	PCDHAC2	5	140201540	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	13118	140201540	40713720	1358	3423											
PCDHAC2	56134	broad.mit.edu	37	chr5	140222549	140222549	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgccgcctctgggcagcaAcgtgacgctgcaggtgttcg	15	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140222549A>G	uc003lhs.2	+	0	1643	c.1643A>G	c.(1642-1644)aAc>aGc	p.N548S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.N548S	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	562	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.N548I(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGCAGCAACGTGACGCTG	0.687													G	140222549	A	G	140222549	3	3	4	1	0	0	0	0	1	0	0	0	11533	43	2	3		3	PCDHAC2	5	140222549	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	21009	140222549	40692711	1359	3424											
PCDHAC2	56134	broad.mit.edu	37	chr5	140237080	140237080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgcgtgggacgcggacGcgcaggagaacgccctggtg	18	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140237080G>A	uc003lhx.2	+	0	1447	c.1447G>A	c.(1447-1449)Gcg>Acg	p.A483T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.A483T|PCDHAC2_uc011dad.2_Missense_Mutation_p.A483T	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	498	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A483T(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCGGACGCGCAGGAGAA	0.662													A	140237080	G	A	140237080	3	1	4	1	0	0	0	0	1	0	0	0	11533	1087	38	1		1	PCDHAC2	5	140237080	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	14531	140237080	40678180	1360	3425											
PCDHAC2	56134	broad.mit.edu	37	chr5	140237425	140237425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaaggtgcgcgcagtggacGctgactctggatacaacgcg	14	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140237425G>A	uc003lhx.2	+	0	1792	c.1792G>A	c.(1792-1794)Gct>Act	p.A598T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Missense_Mutation_p.A598T	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	612	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGTGGACGCTGACTCTGG	0.662													A	140237425	G	A	140237425	3	1	4	1	0	0	0	0	1	0	0	0	11533	1087	38	1		1	PCDHAC2	5	140237425	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	345	140237425	40677835	1361	3426											
PCDHAC2	56134	broad.mit.edu	37	chr5	140250178	140250178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactcgctggtggagcggcGgttgggcgaccgcgcgctgt	18	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140250178G>A	uc003lia.2	+	0	2348	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.R497Q	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	512	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P496T(1)|p.R497Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGCGGCGGTTGGGCGAC	0.672													A	140250178	G	A	140250178	3	1	4	1	0	0	0	0	1	0	0	0	11533	1116	39	1		1	PCDHAC2	5	140250178	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	12753	140250178	40665082	1362	3427											
PCDHAC2	56134	broad.mit.edu	37	chr5	140256328	140256328	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtcggcctatgagctggTggtgactgcgcgggatgggg	20	8	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140256328T>C	uc003lic.2	+	0	1398	c.1271T>C	c.(1270-1272)gTg>gCg	p.V424A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.V424A	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	438	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGAGCTGGTGGTGACTGCG	0.632													C	140256328	T	C	140256328	3	2	4	1	0	0	0	0	1	0	0	0	11533	1696	59	3		3	PCDHAC2	5	140256328	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	6150	140256328	40658932	1363	3428											
PCDHAC2	56134	broad.mit.edu	37	chr5	140256730	140256730	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgttcgtgctggacgAgaacgacaacgcgccggcac	15	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140256730A>T	uc003lic.2	+	0	1800	c.1673A>T	c.(1672-1674)gAg>gTg	p.E558V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.E558V	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	572	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGGACGAGAACGACAAC	0.701													T	140256730	A	T	140256730	3	4	4	1	0	0	0	0	1	0	0	0	11533	304	11	5		5	PCDHAC2	5	140256730	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	402	140256730	40658530	1364	3429											
PCDHAC2	56134	broad.mit.edu	37	chr5	140261998	140261998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccttcgtgggccgcatcGctcaggacctggggctggag	16	13	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140261998G>A	uc003lif.2	+	0	145	c.145G>A	c.(145-147)Gct>Act	p.A49T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.A49T|PCDHAC2_uc003lid.3_Missense_Mutation_p.A49T	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	62	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCGCATCGCTCAGGACCT	0.642													A	140261998	G	A	140261998	3	1	4	1	0	0	0	0	1	0	0	0	11533	1087	38	1		1	PCDHAC2	5	140261998	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5268	140261998	40653262	1365	3430											
PCDHAC2	56134	broad.mit.edu	37	chr5	140307066	140307066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggatcgcgaacagcgcGccacccacctgctggtgctt	11	16	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140307066G>A	uc003lih.2	+	0	765	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.A197T	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	221	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAACAGCGCGCCACCCACCT	0.607													A	140307066	G	A	140307066	3	1	4	1	0	0	0	0	1	0	0	0	11533	1087	38	1		1	PCDHAC2	5	140307066	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	45068	140307066	40608194	1366	3431											
PCDHAC2	56134	broad.mit.edu	37	chr5	140307389	140307389	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactaggtccgcctgaaacGctcttggaggcatacattga	10	11	2	2	rs112037348	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140307389G>A	uc003lih.2	+	0	1088	c.912G>A	c.(910-912)acG>acA	p.T304T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.T304T	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	329	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTGAAACGCTCTTGGAGG	0.557													A	140307389	G	A	140307389	2	1	4	1	0	0	0	0	0	0	0	1	11533	1074	38	1		1	PCDHAC2	5	140307389	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	323	140307389	40607871	1367	3432											
PCDHAC2	56134	broad.mit.edu	37	chr5	140347212	140347212	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcagacccggatgagggCtccaatggtgagctcaggta	14	11	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140347212C>T	uc003lii.3	+	0	1466	c.861C>T	c.(859-861)ggC>ggT	p.G287G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.G287G	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	287	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATGAGGGCTCCAATGGTG	0.582													T	140347212	C	T	140347212	2	4	4	1	0	0	0	0	0	0	0	1	11533	784	28	2		2	PCDHAC2	5	140347212	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	39823	140347212	40568048	1368	3433											
PCDHB2	56133	broad.mit.edu	37	chr5	140475246	140475246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcatctgaagacattcGcaaaacgtttcgattaagtg	8	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140475246G>A	uc003lil.3	+	0	1010	c.872G>A	c.(871-873)cGc>cAc	p.R291H	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	291	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGACATTCGCAAAACGTTT	0.423													A	140475246	G	A	140475246	3	1	4	1	0	0	0	0	1	0	0	0	11542	1087	38	1	874	1	PCDHB2	5	140475246	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	128034	140475246	40440014	1369	3434											
PCDHB3	56132	broad.mit.edu	37	chr5	140481651	140481651	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccctgcacatcggcagtgTcagcgccacagacagagact	11	15	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140481651T>C	uc003lio.3	+	0	1418	c.1418T>C	c.(1417-1419)gTc>gCc	p.V473A	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	473	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCGGCAGTGTCAGCGCCACA	0.637													C	140481651	T	C	140481651	3	2	4	1	0	0	0	0	1	0	0	0	11543	1667	58	3	1420	3	PCDHB3	5	140481651	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	6405	140481651	40433609	1370	3435											
PCDHB3	56132	broad.mit.edu	37	chr5	140481683	140481683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagagactcaggcaccaacGcccaggtaacctactcgctg	9	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140481683G>A	uc003lio.3	+	0	1450	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	484	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCACCAACGCCCAGGTAAC	0.632													A	140481683	G	A	140481683	3	1	4	1	0	0	0	0	1	0	0	0	11543	1087	38	1	1452	1	PCDHB3	5	140481683	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	32	140481683	40433577	1371	3436											
PCDHB7	56129	broad.mit.edu	37	chr5	140554671	140554671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctaccagtatgaggtgtGcctgactggaggctccggga	16	9	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140554671G>A	uc003lit.3	+	0	2429	c.2255G>A	c.(2254-2256)tGc>tAc	p.C752Y	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	752					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATGAGGTGTGCCTGACTGGA	0.582													A	140554671	G	A	140554671	3	1	4	1	0	0	0	0	1	0	0	0	11547	1319	46	2	2257	2	PCDHB7	5	140554671	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	72988	140554671	40360589	1372	3437											
PCDHB8	56128	broad.mit.edu	37	chr5	140558562	140558562	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcgaaaaatttcagtcctAtgaagtcaatatcgaggcga	8	7	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140558562A>G	uc011dai.2	+	0	1192	c.947A>G	c.(946-948)tAt>tGt	p.Y316C	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	316	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCAGTCCTATGAAGTCAAT	0.403													G	140558562	A	G	140558562	3	3	4	1	0	0	0	0	1	0	0	0	11548	449	16	3	949	3	PCDHB8	5	140558562	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	3891	140558562	40356698	1373	3438											
PCDHB8	56128	broad.mit.edu	37	chr5	140559017	140559017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcgagaacaacagccccGccctgcacatcggcagcgtc	10	18	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140559017G>A	uc011dai.2	+	0	1647	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	468	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A468T(2)|p.P467A(1)|p.P467P(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACAGCCCCGCCCTGCACAT	0.637													A	140559017	G	A	140559017	3	1	4	1	0	0	0	0	1	0	0	0	11548	1087	38	1	1404	1	PCDHB8	5	140559017	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	455	140559017	40356243	1374	3439											
PCDHB16	57717	broad.mit.edu	37	chr5	140563922	140563922	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcggtggacggcgactcGggccagaatgcctggctgtc	18	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140563922G>A	uc003liv.3	+	0	2943	c.1788G>A	c.(1786-1788)tcG>tcA	p.S596S	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	596	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGCGACTCGGGCCAGAATG	0.716													A	140563922	G	A	140563922	2	1	4	1	0	0	0	0	0	0	0	1	11541	1103	39	1		1	PCDHB16	5	140563922	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4905	140563922	40351338	1375	3440											
PCDHB9	56127	broad.mit.edu	37	chr5	140568423	140568423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccatcaacgcggacaatgGccacctgtttgccctcaggt	9	15	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140568423G>A	uc003liw.1	+	1	1529	c.1529G>A	c.(1528-1530)gGc>gAc	p.G510D		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	511	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGACAATGGCCACCTGTTT	0.672													A	140568423	G	A	140568423	3	1	4	1	0	0	0	0	1	0	0	0	11549	1203	42	2	1533	2	PCDHB9	5	140568423	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4501	140568423	40346837	1376	3441											
PCDHB9	56127	broad.mit.edu	37	chr5	140569104	140569104	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttccagggcatctggtggAcgtgagcggcaccgggaccc	15	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140569104A>G	uc003liw.1	+	1	2210	c.2210A>G	c.(2209-2211)gAc>gGc	p.D737G	PCDHB10_uc003lix.3_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	738					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCTGGTGGACGTGAGCGGC	0.637													G	140569104	A	G	140569104	3	3	4	1	0	0	0	0	1	0	0	0	11549	275	10	3	2214	3	PCDHB9	5	140569104	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	681	140569104	40346156	1377	3442											
PCDHB11	56125	broad.mit.edu	37	chr5	140581476	140581476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggtgctcctgttcgtggCggtgcggctgtgcaggagga	18	10	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140581476C>T	uc003liy.3	+	0	2129	c.2129C>T	c.(2128-2130)gCg>gTg	p.A710V		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	710					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTCGTGGCGGTGCGGCTG	0.687													T	140581476	C	T	140581476	3	4	4	1	0	0	0	0	1	0	0	0	11536	768	27	1	2131	1	PCDHB11	5	140581476	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	12372	140581476	40333784	1378	3443											
PCDHB11	56125	broad.mit.edu	37	chr5	140581505	140581505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcaggaggagcagggcgGcctcggtgggaagctgctcg	20	9	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140581505G>A	uc003liy.3	+	0	2158	c.2158G>A	c.(2158-2160)Gcc>Acc	p.A720T		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	720					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A719A(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCAGGGCGGCCTCGGTGGG	0.652													A	140581505	G	A	140581505	3	1	4	1	0	0	0	0	1	0	0	0	11536	1203	42	2	2160	2	PCDHB11	5	140581505	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	29	140581505	40333755	1379	3444											
PCDHB12	56124	broad.mit.edu	37	chr5	140589821	140589821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccgacgtcaatgacaacGcccccgccttcacccaaact	5	19	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140589821G>A	uc003liz.3	+	0	1531	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T	PCDHB12_uc011dak.2_Missense_Mutation_p.A111T	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	448	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A448D(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGACAACGCCCCCGCCTT	0.602													A	140589821	G	A	140589821	3	1	4	1	0	0	0	0	1	0	0	0	11537	1087	38	1	1344	1	PCDHB12	5	140589821	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	8316	140589821	40325439	1380	3445											
PCDHB14	56122	broad.mit.edu	37	chr5	140604673	140604673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttcgagtttcgcgtgggCgccacagaccgcgggtcccc	15	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140604673C>T	uc003ljb.3	+	0	1596	c.1596C>T	c.(1594-1596)ggC>ggT	p.G532G		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	532	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGCGTGGGCGCCACAGACC	0.667													T	140604673	C	T	140604673	2	4	4	1	0	0	0	0	0	0	0	1	11539	755	27	1		1	PCDHB14	5	140604673	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	14852	140604673	40310587	1381	3446											
PCDHB14	56122	broad.mit.edu	37	chr5	140605138	140605138	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggccgactccctcacCgtctacctggtggtggcatt	11	16	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140605138C>T	uc003ljb.3	+	0	2061	c.2061C>T	c.(2059-2061)acC>acT	p.T687T		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	687					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.T687T(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCCCTCACCGTCTACCTGG	0.706													T	140605138	C	T	140605138	2	4	4	1	0	0	0	0	0	0	0	1	11539	639	23	1		1	PCDHB14	5	140605138	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	465	140605138	40310122	1382	3447											
TAF7	6879	broad.mit.edu	37	chr5	140699196	140699196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcctgacattctttagaGgcagagtaattccgtggttc	9	9	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140699196G>A	uc003ljg.3	-	0	1156	c.416C>T	c.(415-417)cCt>cTt	p.P139L		NM_005642	NP_005633	Q15545	TAF7_HUMAN	Homo sapiens TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa (TAF7), mRNA.	139					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTTTAGAGGCAGAGTAAT	0.408													A	140699196	G	A	140699196	3	1	4	1	0	0	0	0	1	0	0	0	15529	1000	35	4	637	4	TAF7	5	140699196	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	94058	140699196	40216064	1383	3448											
PCDHGC5	56097	broad.mit.edu	37	chr5	140710396	140710396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccttcgtaggcaacatcGccaaggacctagggctgcaa	11	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140710396G>A	uc003lji.2	+	0	145	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	PCDHGC5_uc011dan.2_Missense_Mutation_p.A49T	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	49	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A49T(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAACATCGCCAAGGACCT	0.557													A	140710396	G	A	140710396	3	1	4	1	0	0	0	0	1	0	0	0	11571	1087	38	1		1	PCDHGC5	5	140710396	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	11200	140710396	40204864	1384	3449											
PCDHGC5	56097	broad.mit.edu	37	chr5	140745824	140745824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcgctcaagcagagcctcGtggtggccgtcgaagaccat	13	13	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140745824G>A	uc003lju.2	+	0	1927	c.1927G>A	c.(1927-1929)Gtg>Atg	p.V643M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.V643M	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	645	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGAGCCTCGTGGTGGCCGT	0.662													A	140745824	G	A	140745824	3	1	4	1	0	0	0	0	1	0	0	0	11571	1145	40	1		1	PCDHGC5	5	140745824	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	35428	140745824	40169436	1385	3450											
PCDHGC5	56097	broad.mit.edu	37	chr5	140746261	140746261	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagagctgtgagaaaagCgagcctcttctgatgtctga	13	7	3	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140746261C>T	uc003lju.2	+	0	2364	c.2364C>T	c.(2362-2364)agC>agT	p.S788S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.S788S	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	798					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGAAAAGCGAGCCTCTTC	0.488													T	140746261	C	T	140746261	2	4	4	1	0	0	0	0	0	0	0	1	11571	767	27	1		1	PCDHGC5	5	140746261	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	437	140746261	40168999	1386	3451											
PCDHGC5	56097	broad.mit.edu	37	chr5	140762959	140762959	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggatccagatgtgggcacgAactccctccagagttaccag	12	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140762959A>G	uc003lka.2	+	0	493	c.493A>G	c.(493-495)Aac>Gac	p.N165D	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Missense_Mutation_p.N165D	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	165	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGGCACGAACTCCCTCCA	0.512													G	140762959	A	G	140762959	3	3	4	1	0	0	0	0	1	0	0	0	11571	246	9	3		3	PCDHGC5	5	140762959	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	16698	140762959	40152301	1387	3452											
PCDHGC5	56097	broad.mit.edu	37	chr5	140784212	140784212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccccagaaatcctgtacCctgccctccccactgatggt	7	17	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140784212C>T	uc003lkh.2	+	0	1693	c.1693C>T	c.(1693-1695)Cct>Tct	p.P565S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.P565S	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	567					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCCTGTACCCTGCCCTCCC	0.562													T	140784212	C	T	140784212	3	4	4	1	0	0	0	0	1	0	0	0	11571	623	22	4		4	PCDHGC5	5	140784212	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	21253	140784212	40131048	1388	3453											
PCDHGC5	56097	broad.mit.edu	37	chr5	140784685	140784685	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggcactggcactcctcGcatctgctgcgggctaccag	12	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140784685G>A	uc003lkh.2	+	0	2166	c.2166G>A	c.(2164-2166)tcG>tcA	p.S722S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.S722S	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	714					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCACTCCTCGCATCTGCTGC	0.577													A	140784685	G	A	140784685	2	1	4	1	0	0	0	0	0	0	0	1	11571	1074	38	1		1	PCDHGC5	5	140784685	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	473	140784685	40130575	1389	3454											
PCDHGC5	56097	broad.mit.edu	37	chr5	140789114	140789114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgacatcaacgacaacGccccagttttcgaccagacg	8	15	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140789114G>A	uc003lkj.2	+	0	1345	c.1345G>A	c.(1345-1347)Gcc>Acc	p.A449T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Missense_Mutation_p.A449T	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	451	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGACAACGCCCCAGTTTT	0.567													A	140789114	G	A	140789114	3	1	4	1	0	0	0	0	1	0	0	0	11571	1087	38	1		1	PCDHGC5	5	140789114	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4429	140789114	40126146	1390	3455											
PCDHGC5	56097	broad.mit.edu	37	chr5	140793053	140793053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctctgcgctcagagcgCgcggtgcgtggtgagtttta	17	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140793053C>T	uc003lkl.2	+	0	311	c.311C>T	c.(310-312)gCg>gTg	p.A104V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.A104V	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	100	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A104V(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGAGCGCGCGGTGCGTG	0.517													T	140793053	C	T	140793053	3	4	4	1	0	0	0	0	1	0	0	0	11571	768	27	1		1	PCDHGC5	5	140793053	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3939	140793053	40122207	1391	3456											
PCDHGC5	56097	broad.mit.edu	37	chr5	140802964	140802964	+	Frame_Shift_Del	DEL	C	C	-													tgtggcgctggcataagtcaCgcctgctgcaggcttctgaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140802963_140802963AC>A	uc003lkq.2	+	0	2427	c.2169_2169AC>A	c.(2167-2169)tcafs	p.S723fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Frame_Shift_Del_p.S723fs|PCDHGC5_uc003lkp.2_Intron|PCDHGB8P_uc011daz.2_5'Flank	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	714					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCATAAGTCACGCCTGCTGC	0.592													-	140802964	C	-	140802964	7	5	4	1	0	1	0	1	0	0	0	0	11571	536	19	0		0	PCDHGC5	5	140802964	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	9911	140802964	40112296	1392	3457											
PCDHGC5	56097	broad.mit.edu	37	chr5	140810542	140810542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatccccagaggtaggacGcagcttttcgccctgaatcc	9	14	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140810542G>A	uc003lkt.2	+	0	385	c.216G>A	c.(214-216)acG>acA	p.T72T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.T72T	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	72	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTAGGACGCAGCTTTTCG	0.637													A	140810542	G	A	140810542	2	1	4	1	0	0	0	0	0	0	0	1	11571	1074	38	1		1	PCDHGC5	5	140810542	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	7578	140810542	40104718	1393	3458											
PCDHGC5	56097	broad.mit.edu	37	chr5	140812003	140812003	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaccagaacgacaatgcGcccgagatcctgtaccccgc	10	16	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140812003G>A	uc003lkt.2	+	0	1846	c.1677G>A	c.(1675-1677)gcG>gcA	p.A559A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.A559A	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	561	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAATGCGCCCGAGATCC	0.657													A	140812003	G	A	140812003	2	1	4	1	0	0	0	0	0	0	0	1	11571	1074	38	1		1	PCDHGC5	5	140812003	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1461	140812003	40103257	1394	3459											
PCDHGC5	56097	broad.mit.edu	37	chr5	140857013	140857013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcagcccttacaatagtgCgtgttcaagtgtccgacatc	8	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140857013C>T	uc003lkv.2	+	0	1445	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Missense_Mutation_p.R444C|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	441	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R444C(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAATAGTGCGTGTTCAAGT	0.522													T	140857013	C	T	140857013	3	4	4	1	0	0	0	0	1	0	0	0	11571	768	27	1		1	PCDHGC5	5	140857013	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	45010	140857013	40058247	1395	3460											
DIAPH1	1729	broad.mit.edu	37	chr5	140905627	140905628	+	Frame_Shift_Del	DEL	CT	CT	-													gcattcatgtctatgagttgCtctctcttctgctgcttctc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140905626_140905627GCT>G	uc003llb.4	-	25	3693_3694	c.3552_3553AGC>C	c.(3550-3555)gagcaafs	p.E1184fs	DIAPH1_uc011dbd.2_Frame_Shift_Del_p.E78fs|DIAPH1_uc003llc.4_Frame_Shift_Del_p.E1175fs|DIAPH1_uc021yep.1_Frame_Shift_Del_p.E1184fs|DIAPH1_uc021yeq.1_Frame_Shift_Del_p.E1175fs	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	1184					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTATGAGTTGCTCTCTCTTCT	0.515													-	140905628	CT	-	140905627	7	5	4	1	0	1	0	1	0	0	0	0	4518	796	28	0	278	0	DIAPH1	5	140905627	Frame_Shift_Del	DEL	CT	TCGA-BR-4184-01A-01D-1126-08	48614	140905627	40009633	1396	3461											
HDAC3	8841	broad.mit.edu	37	chr5	141005313	141005313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgaagtgtgaagtctgggGcaaagtactcgaagtattct	13	5	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:141005313G>A	uc003llf.2	-	12	1064	c.998C>T	c.(997-999)gCc>gTc	p.A333V	HDAC3_uc003lle.1_Missense_Mutation_p.A276V	NM_003883	NP_003874	O15379	HDAC3_HUMAN	Homo sapiens histone deacetylase 3 (HDAC3), mRNA.	333					anti-apoptosis|cellular lipid metabolic process|negative regulation of JNK cascade|negative regulation of cell cycle|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GAAGTCTGGGGCAAAGTACTC	0.493													A	141005313	G	A	141005313	3	1	4	1	0	0	0	0	1	0	0	0	7008	1203	42	2	300	2	HDAC3	5	141005313	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	99686	141005313	39909947	1397	3462											
KCTD16	57528	broad.mit.edu	37	chr5	143853254	143853254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggtcaccctcacactgCgattgctgctgcaagaatgg	11	11	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:143853254C>T	uc003lnm.1	+	3	1493	c.864C>T	c.(862-864)tgC>tgT	p.C288C	KCTD16_uc003lnn.1_Silent_p.C288C	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	288						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CCTCACACTGCGATTGCTGCT	0.522													T	143853254	C	T	143853254	2	4	4	1	0	0	0	0	0	0	0	1	8103	776	27	1		1	KCTD16	5	143853254	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2847941	143853254	37062006	1398	3463											
RBM27	54439	broad.mit.edu	37	chr5	145631338	145631338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacttcagttggggacaccGcctcctctgttggcagctcg	12	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:145631338G>A	uc003lnz.4	+	8	1510	c.1344G>A	c.(1342-1344)ccG>ccA	p.P448P	RBM27_uc003lny.2_Intron	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	448					mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGGGACACCGCCTCCTCTGT	0.552													A	145631338	G	A	145631338	2	1	4	1	0	0	0	0	0	0	0	1	13127	1074	38	1		1	RBM27	5	145631338	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1778084	145631338	35283922	1399	3464											
JAKMIP2	9832	broad.mit.edu	37	chr5	147012252	147012252	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catttccttacttctagctcTaggtttcgaaactccagcag	6	12	2	0	rs75918574		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:147012252T>C	uc010jgo.1	-	11	1915	c.1767A>G	c.(1765-1767)ctA>ctG	p.L589L	JAKMIP2_uc003loq.1_Silent_p.L589L|JAKMIP2_uc011dbx.1_Silent_p.L547L|JAKMIP2_uc003lor.1_Silent_p.L568L|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	589						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTAGCTCTAGGTTTCGAA	0.383													C	147012252	T	C	147012252	2	2	4	1	0	0	0	0	0	0	0	1	7941	1509	53	3		3	JAKMIP2	5	147012252	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1380914	147012252	33903008	1400	3465											
HTR4	3360	broad.mit.edu	37	chr5	147889355	147889355	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcctcatgcgatgagtgCtatgctggtctgccgactga	12	11	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:147889355C>A	uc021yfj.1	-	4	787	c.740G>T	c.(739-741)aGc>aTc	p.S247I	HTR4_uc021yfg.1_Missense_Mutation_p.S247I|HTR4_uc021yfh.1_Missense_Mutation_p.S247I|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Missense_Mutation_p.S247I|HTR4_uc011dby.1_Missense_Mutation_p.S247I|HTR4_uc003lpn.3_Missense_Mutation_p.S247I|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Missense_Mutation_p.S247I	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	247					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GCGATGAGTGCTATGCTGGTC	0.542													A	147889355	C	A	147889355	3	1	4	1	0	0	0	0	1	0	0	0	7449	797	28	5	730	5	HTR4	5	147889355	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	877103	147889355	33025905	1401	3466											
PCYOX1L	78991	broad.mit.edu	37	chr5	148745609	148745609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgacccagcactctgtggCtgagtccctgctgcaggtgg	13	13	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:148745609C>T	uc003lqk.2	+	3	637	c.575C>T	c.(574-576)gCt>gTt	p.A192V	PCYOX1L_uc003lql.2_Missense_Mutation_p.A175V|PCYOX1L_uc010jgz.2_Intron|PCYOX1L_uc003lqm.2_Missense_Mutation_p.A74V|PCYOX1L_uc003lqn.2_Missense_Mutation_p.A102V	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	Homo sapiens prenylcysteine oxidase 1 like (PCYOX1L), mRNA.	192					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTCTGTGGCTGAGTCCCTG	0.592													T	148745609	C	T	148745609	3	4	4	1	0	0	0	0	1	0	0	0	11609	797	28	2	589	2	PCYOX1L	5	148745609	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	856254	148745609	32169651	1402	3467											
PCYOX1L	78991	broad.mit.edu	37	chr5	148747580	148747580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagccctgtaccaggtggCgtatgagaatgaggtaggca	15	7	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:148747580C>T	uc003lqk.2	+	5	910	c.848C>T	c.(847-849)gCg>gTg	p.A283V	PCYOX1L_uc003lql.2_Missense_Mutation_p.A266V|PCYOX1L_uc010jgz.2_Missense_Mutation_p.A207V|PCYOX1L_uc003lqm.2_Missense_Mutation_p.A165V|PCYOX1L_uc003lqn.2_Missense_Mutation_p.A193V	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	Homo sapiens prenylcysteine oxidase 1 like (PCYOX1L), mRNA.	283					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCAGGTGGCGTATGAGAAT	0.522											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	148747580	C	T	148747580	3	4	4	1	0	0	0	0	1	0	0	0	11609	768	27	1	870	1	PCYOX1L	5	148747580	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1971	148747580	32167680	1403	3468											
ARHGEF37	389337	broad.mit.edu	37	chr5	148980761	148980761	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccatgatctgcaggagacaGcctccaaggaagaggaacaa	11	10	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:148980761G>T	uc003lra.1	+	2	341	c.277G>T	c.(277-279)Gcc>Tcc	p.A93S		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA.	93	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GCAGGAGACAGCCTCCAAGGA	0.468													T	148980761	G	T	148980761	3	4	4	1	0	0	0	0	1	0	0	0	906	971	34	5	283	5	ARHGEF37	5	148980761	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	233181	148980761	31934499	1404	3469											
PPARGC1B	133522	broad.mit.edu	37	chr5	149206304	149206304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgacatccctgaagatgaCgtgggtctggctgccttccc	12	12	1	4	rs141027780	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:149206304C>T	uc003lrc.3	+	2	412	c.321C>T	c.(319-321)gaC>gaT	p.D107D	PPARGC1B_uc003lrb.2_Silent_p.D107D|PPARGC1B_uc003lrd.3_Silent_p.D107D|PPARGC1B_uc021yfr.1_Silent_p.D82D|PPARGC1B_uc003lre.1_Silent_p.D86D|PPARGC1B_uc003lrf.3_Silent_p.D86D	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	107					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTGAAGATGACGTGGGTCTGG	0.627													T	149206304	C	T	149206304	2	4	4	1	0	0	0	0	0	0	0	1	12301	535	19	1		1	PPARGC1B	5	149206304	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	225543	149206304	31708956	1405	3470											
PDE6A	5145	broad.mit.edu	37	chr5	149242740	149242740	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccttcatcttggcatcGtactcatcagcaagcgcctt	7	14	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:149242740G>A	uc003lrg.4	-	20	2568	c.2448C>T	c.(2446-2448)taC>taT	p.Y816Y	PDE6A_uc021yfs.1_Silent_p.Y735Y	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	816					GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCTTGGCATCGTACTCATCAG	0.552													A	149242740	G	A	149242740	2	1	4	1	0	0	0	0	0	0	0	1	11645	1140	40	1		1	PDE6A	5	149242740	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	36436	149242740	31672520	1406	3471											
SLC26A2	1836	broad.mit.edu	37	chr5	149360038	149360038	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actacctggatacatgtcttCagaaacatccataagaccaa	5	11	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:149360038C>T	uc003lrh.3	+	2	1150	c.882C>T	c.(880-882)ttC>ttT	p.F294F		NM_000112	NP_000103	P50443	S26A2_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.	294						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TACATGTCTTCAGAAACATCC	0.433													T	149360038	C	T	149360038	2	4	4	1	0	0	0	0	0	0	0	1	14517	825	29	4		4	SLC26A2	5	149360038	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	117298	149360038	31555222	1407	3472											
CSF1R	1436	broad.mit.edu	37	chr5	149439266	149439266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgccaggggctacctgCggacatatttcttctcgagg	11	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:149439266C>T	uc003lrl.3	-	13	2324	c.2129G>A	c.(2128-2130)cGc>cAc	p.R710H	CSF1R_uc011dcd.2_Intron|CSF1R_uc010jhc.3_Intron|CSF1R_uc003lrm.3_Missense_Mutation_p.R710H	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	710	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.R710H(3)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGGCTACCTGCGGACATATTT	0.587													T	149439266	C	T	149439266	3	4	4	1	0	0	0	0	1	0	0	0	3932	768	27	1	821	1	CSF1R	5	149439266	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	79228	149439266	31475994	1408	3473											
CSF1R	1436	broad.mit.edu	37	chr5	149441338	149441338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcgttgtaaggcagctgCgtggggtcgatgaaagtata	14	6	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:149441338C>T	uc003lrl.3	-	10	1896	c.1701G>A	c.(1699-1701)acG>acA	p.T567T	CSF1R_uc011dcd.2_Silent_p.T419T|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.T567T	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	567					cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.P566L(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AAGGCAGCTGCGTGGGGTCGA	0.552													T	149441338	C	T	149441338	2	4	4	1	0	0	0	0	0	0	0	1	3932	755	27	1		1	CSF1R	5	149441338	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2072	149441338	31473922	1409	3474											
CSF1R	1436	broad.mit.edu	37	chr5	149447825	149447825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagcagcagcagcaaggCcatgatggacatgcaggcga	15	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:149447825C>T	uc003lrl.3	-	9	1774	c.1579G>A	c.(1579-1581)Gcc>Acc	p.A527T	CSF1R_uc011dcd.2_Missense_Mutation_p.A379T|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.A527T	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	527					cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	agcagcaAGGCCATGATGGAC	0.587													T	149447825	C	T	149447825	3	4	4	1	0	0	0	0	1	0	0	0	3932	739	26	2	1387	2	CSF1R	5	149447825	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	6487	149447825	31467435	1410	3475											
CSF1R	1436	broad.mit.edu	37	chr5	149459840	149459840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagacagggcagtagtgCgtcctggtcctcgaacacga	14	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:149459840C>T	uc003lrl.3	-	2	562	c.367G>A	c.(367-369)Gca>Aca	p.A123T	CSF1R_uc011dcd.2_5'UTR|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.A123T|CSF1R_uc011dce.1_Missense_Mutation_p.A123T|CSF1R_uc011dcf.2_Missense_Mutation_p.A123T	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	123	Ig-like C2-type 2.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.A123T(3)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGCAGTAGTGCGTCCTGGTCC	0.642													T	149459840	C	T	149459840	3	4	4	1	0	0	0	0	1	0	0	0	3932	768	27	1	2627	1	CSF1R	5	149459840	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	12015	149459840	31455420	1411	3476											
PDGFRB	5159	broad.mit.edu	37	chr5	149501454	149501454	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccacccaccagagggaacgTagttatcgtaaggggccatg	12	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:149501454T>C	uc003lro.3	-	15	2802	c.2333A>G	c.(2332-2334)tAc>tGc	p.Y778C	PDGFRB_uc010jhd.3_Missense_Mutation_p.Y617C	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	778	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGAGGGAACGTAGTTATCGTA	0.512			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								C	149501454	T	C	149501454	3	2	4	1	0	0	0	0	1	0	0	0	11662	1638	57	3	1019	3	PDGFRB	5	149501454	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	41614	149501454	31413806	1412	3477											
CAMK2A	815	broad.mit.edu	37	chr5	149631348	149631348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgatctgctggtacaggcGgtgctggtcctcatcccaga	12	11	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:149631348G>A	uc003lru.2	-	8	873	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	CAMK2A_uc003lrt.2_Missense_Mutation_p.R220C|CAMK2A_uc010jhe.2_Missense_Mutation_p.R200C|CAMK2A_uc010jhf.1_Silent_p.T57T	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA.	220	Protein kinase.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTACAGGCGGTGCTGGTCC	0.597													A	149631348	G	A	149631348	3	1	4	1	0	0	0	0	1	0	0	0	2599	1116	39	1	855	1	CAMK2A	5	149631348	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	129894	149631348	31283912	1413	3478											
TCOF1	6949	broad.mit.edu	37	chr5	149775932	149775932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccaagcctcaaccctggCgctgcaaagcaacatcaccc	6	20	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:149775932C>T	uc003lry.3	+	23	3977	c.3869C>T	c.(3868-3870)gCg>gTg	p.A1290V	TCOF1_uc003lrz.3_Missense_Mutation_p.A1252V|TCOF1_uc011dch.2_Missense_Mutation_p.A1253V|TCOF1_uc003lrx.3_Missense_Mutation_p.A1214V|TCOF1_uc003lsa.3_Missense_Mutation_p.A1213V	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	1290					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAACCCTGGCGCTGCAAAGC	0.612													T	149775932	C	T	149775932	3	4	4	1	0	0	0	0	1	0	0	0	15705	768	27	1	3988	1	TCOF1	5	149775932	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	144584	149775932	31139328	1414	3479											
TCOF1	6949	broad.mit.edu	37	chr5	149777957	149777957	+	Frame_Shift_Del	DEL	A	A	-													aaagaaaagaagaagaaagcAaaaaaggcctcaaccaaaga					rs3205427		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:149777956_149777956CA>C	uc003lry.3	+	24	4490	c.4382_4382CA>C	c.(4381-4383)gcafs	p.A1461fs	TCOF1_uc003lrz.3_Frame_Shift_Del_p.A1423fs|TCOF1_uc011dch.2_Frame_Shift_Del_p.A1424fs|TCOF1_uc003lrx.3_Frame_Shift_Del_p.A1385fs|TCOF1_uc003lsa.3_Frame_Shift_Del_p.A1384fs	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	1461	Poly-Lys.				skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			aagaagaaagcaaaaaaGGCC	0.403													-	149777957	A	-	149777957	7	5	4	1	0	1	0	1	0	0	0	0	15705	117	5	0	4506	0	TCOF1	5	149777957	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	2025	149777957	31137303	1415	3480											
NDST1	3340	broad.mit.edu	37	chr5	149907766	149907766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccttcctcacggggaagcGcctctccctgccattggacc	11	17	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:149907766G>A	uc003lsk.4	+	2	1416	c.914G>A	c.(913-915)cGc>cAc	p.R305H	NDST1_uc011dcj.2_Missense_Mutation_p.R305H|NDST1_uc003lsl.3_Missense_Mutation_p.R305H	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	305	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGGGGAAGCGCCTCTCCCTG	0.587													A	149907766	G	A	149907766	3	1	4	1	0	0	0	0	1	0	0	0	10255	1087	38	1	920	1	NDST1	5	149907766	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	129809	149907766	31007494	1416	3481											
ANXA6	309	broad.mit.edu	37	chr5	150489327	150489327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcacctctccggaggtgCggatagctccgggtacacag	13	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:150489327C>T	uc003ltl.2	-	21	1899	c.1671G>A	c.(1669-1671)ccG>ccA	p.P557P	ANXA6_uc011dcp.2_Silent_p.P525P|ANXA6_uc003lto.2_Silent_p.P144P	NM_001155	NP_001180473	P08133	ANXA6_HUMAN	Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.	557						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGGAGGTGCGGATAGCTCC	0.562													T	150489327	C	T	150489327	2	4	4	1	0	0	0	0	0	0	0	1	722	755	27	1		1	ANXA6	5	150489327	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	581561	150489327	30425933	1417	3482											
ANXA6	309	broad.mit.edu	37	chr5	150509077	150509077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggatcagggtgttgtccCgagtccccaggccctgcaag	14	13	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:150509077C>T	uc003ltl.2	-	11	1037	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	ANXA6_uc011dcp.2_Missense_Mutation_p.R238Q|ANXA6_uc003lto.2_Intron	NM_001155	NP_001180473	P08133	ANXA6_HUMAN	Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.	270						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGTTGTCCCGAGTCCCCAG	0.527													T	150509077	C	T	150509077	3	4	4	1	0	0	0	0	1	0	0	0	722	652	23	1	1272	1	ANXA6	5	150509077	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	19750	150509077	30406183	1418	3483											
FAT2	2196	broad.mit.edu	37	chr5	150897291	150897291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgctggggccctgtaccGcacatagctctgaccactga	11	15	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:150897291G>A	uc003lue.4	-	18	11366	c.11353C>T	c.(11353-11355)Cgg>Tgg	p.R3785W	FAT2_uc003lud.4_Missense_Mutation_p.R478W	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3785	Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCCTGTACCGCACATAGCTC	0.517													A	150897291	G	A	150897291	3	1	4	1	0	0	0	0	1	0	0	0	5690	1086	38	1	1716	1	FAT2	5	150897291	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	388214	150897291	30017969	1419	3484											
SPARC	6678	broad.mit.edu	37	chr5	151043671	151043671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgatgccgaagcagccgGcccactcatccagggcgatg	13	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:151043671G>A	uc003lui.3	-	8	965	c.860C>T	c.(859-861)gCc>gTc	p.A287V	SPARC_uc003lug.3_Missense_Mutation_p.A121V	NM_003118	NP_003109	P09486	SPRC_HUMAN	Homo sapiens secreted protein, acidic, cysteine-rich (osteonectin) (SPARC), mRNA.	287	EF-hand.				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	p.A287V(2)		central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	GAAGCAGCCGGCCCACTCATC	0.582													A	151043671	G	A	151043671	3	1	4	1	0	0	0	0	1	0	0	0	14994	1203	42	2	59	2	SPARC	5	151043671	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	146380	151043671	29871589	1420	3485											
HAND1	9421	broad.mit.edu	37	chr5	153857252	153857252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgttaatgctctcagtgCgtctccgctccttcttgggt	10	13	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:153857252C>T	uc003lvn.3	-	0	573	c.317G>A	c.(316-318)cGc>cAc	p.R106H		NM_004821	NP_004812	O96004	HAND1_HUMAN	Homo sapiens heart and neural crest derivatives expressed 1 (HAND1), mRNA.	106					angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	DNA binding|bHLH transcription factor binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GCTCTCAGTGCGTCTCCGCTC	0.667													T	153857252	C	T	153857252	3	4	4	1	0	0	0	0	1	0	0	0	6949	768	27	1	338	1	HAND1	5	153857252	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2813581	153857252	27058008	1421	3486											
KIF4B	285643	broad.mit.edu	37	chr5	154393675	154393675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatataatgcaacggtcctgGcctatgggcagactggctct	12	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:154393675G>A	uc010jih.1	+	0	416	c.256G>A	c.(256-258)Gcc>Acc	p.A86T		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	86	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AACGGTCCTGGCCTATGGGCA	0.453													A	154393675	G	A	154393675	3	1	4	1	0	0	0	0	1	0	0	0	8304	1203	42	2	258	2	KIF4B	5	154393675	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	536423	154393675	26521585	1422	3487											
SOX30	11063	broad.mit.edu	37	chr5	157053375	157053375	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccctgagcactttttcttcTtcctcctcatcactgtcggt	5	15	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:157053375T>C	uc003lxb.1	-	4	2577	c.2235A>G	c.(2233-2235)gaA>gaG	p.E745E	SOX30_uc003lxc.1_3'UTR|SOX30_uc011dds.1_Silent_p.E440E	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	745					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTTTTCTTCTTCCTCCTCAT	0.383													C	157053375	T	C	157053375	2	2	4	1	0	0	0	0	0	0	0	1	14952	1606	56	3		3	SOX30	5	157053375	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	2659700	157053375	23861885	1423	3488											
THG1L	54974	broad.mit.edu	37	chr5	157159916	157159916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaaaacccaatgacagcCgtgctctccagctgatgacc	8	14	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:157159916C>T	uc003lxd.3	+	1	358	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	THG1L_uc011ddu.2_5'UTR	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	Homo sapiens tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) (THG1L), mRNA.	78					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATGACAGCCGTGCTCTCCA	0.468													T	157159916	C	T	157159916	3	4	4	1	0	0	0	0	1	0	0	0	15858	652	23	1	238	1	THG1L	5	157159916	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	106541	157159916	23755344	1424	3489											
ADRA1B	147	broad.mit.edu	37	chr5	159344141	159344141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcctgcaaccggcacctgCggacgcccaccaactacttc	9	18	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:159344141C>T	uc003lxt.1	+	0	402	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W		NM_000679	NP_000670	P35368	ADA1B_HUMAN	Homo sapiens adrenergic, alpha-1B-, receptor (ADRA1B), mRNA.	77					G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	p.R77W(4)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	CCGGCACCTGCGGACGCCCAC	0.612													T	159344141	C	T	159344141	3	4	4	1	0	0	0	0	1	0	0	0	335	759	27	1	231	1	ADRA1B	5	159344141	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2184225	159344141	21571119	1425	3490											
CCNJL	79616	broad.mit.edu	37	chr5	159680757	159680757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccgggcaccattgccaaGgcctggctcttgacggctac	13	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:159680757G>A	uc003lyb.1	-	6	1188	c.936C>T	c.(934-936)gcC>gcT	p.A312A	CCNJL_uc011dee.1_Silent_p.A264A|CCNJL_uc003lyc.1_Non-coding_Transcript	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Homo sapiens cyclin J-like (CCNJL), mRNA.	312						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCATTGCCAAGGCCTGGCTCT	0.627													A	159680757	G	A	159680757	2	1	4	1	0	0	0	0	0	0	0	1	2929	987	35	4		4	CCNJL	5	159680757	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	336616	159680757	21234503	1426	3491											
HMMR	3161	broad.mit.edu	37	chr5	162910329	162910329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagaaattaacaagtggCgtctcctctatgaagaacta	8	8	2	4	rs140371330	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:162910329C>T	uc003lzh.3	+	14	1923	c.1741C>T	c.(1741-1743)Cgt>Tgt	p.R581C	HMMR_uc003lzf.3_Missense_Mutation_p.R580C|HMMR_uc003lzg.3_Missense_Mutation_p.R565C|HMMR_uc011dem.2_Missense_Mutation_p.R494C|BC035392_uc003lzi.3_Intron	NM_001142556	NP_001136028	O75330	HMMR_HUMAN	Homo sapiens hyaluronan-mediated motility receptor (RHAMM) (HMMR), transcript variant 1, mRNA.	580						cell surface|cytoplasm	hyaluronic acid binding	p.R580C(2)		cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		TAACAAGTGGCGTCTCCTCTA	0.299													T	162910329	C	T	162910329	3	4	4	1	0	0	0	0	1	0	0	0	7242	768	27	1	1799	1	HMMR	5	162910329	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3229572	162910329	18004931	1427	3492											
ODZ2	57451	broad.mit.edu	37	chr5	167645893	167645893	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caccgtgggcaccaatggagGcctcaaagtcgtgtccacac	11	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:167645893G>C	uc010jjd.3	+	22	4970	c.4970G>C	c.(4969-4971)gGc>gCc	p.G1657A	ODZ2_uc003lzr.4_Missense_Mutation_p.G1427A|ODZ2_uc003lzt.4_Missense_Mutation_p.G1030A|ODZ2_uc010jje.3_Missense_Mutation_p.G921A	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		ACCAATGGAGGCCTCAAAGTC	0.577													C	167645893	G	C	167645893	3	2	4	1	0	0	0	0	1	0	0	0	10835	1203	42	5	5060	5	ODZ2	5	167645893	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4735564	167645893	13269367	1428	3493											
ODZ2	57451	broad.mit.edu	37	chr5	167673925	167673925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacccgcctgaaagcaatgCttcggtcatctttgactaca	7	13	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:167673925C>T	uc010jjd.3	+	26	5954	c.5954C>T	c.(5953-5955)gCt>gTt	p.A1985V	ODZ2_uc003lzr.4_Missense_Mutation_p.A1755V|ODZ2_uc003lzt.4_Missense_Mutation_p.A1358V|ODZ2_uc010jje.3_Missense_Mutation_p.A1249V	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GAAAGCAATGCTTCGGTCATC	0.547													T	167673925	C	T	167673925	3	4	4	1	0	0	0	0	1	0	0	0	10835	797	28	2	6060	2	ODZ2	5	167673925	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	28032	167673925	13241335	1429	3494											
RARS	5917	broad.mit.edu	37	chr5	167944920	167944920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggaatggaaactaggcCggtgcattttacggttccct	12	8	0	1	rs147793623		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:167944920C>T	uc003lzx.3	+	13	1767	c.1726C>T	c.(1726-1728)Cgg>Tgg	p.R576W	RARS_uc011deo.2_Missense_Mutation_p.R370W	NM_002887	NP_002878	P54136	SYRC_HUMAN	Homo sapiens arginyl-tRNA synthetase (RARS), mRNA.	576					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GAAACTAGGCCGGTGCATTTT	0.408													T	167944920	C	T	167944920	3	4	4	1	0	0	0	0	1	0	0	0	13058	643	23	1	1780	1	RARS	5	167944920	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	270995	167944920	12970340	1430	3495											
DOCK2	1794	broad.mit.edu	37	chr5	169230209	169230209	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccttagctaccaggatgCggtgagtcctcctgatgatg	12	10	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:169230209C>T	uc003maf.3	+	26	2783	c.2703_splice	c.e26+1	p.A901_splice	DOCK2_uc011der.2_Splice_Site|DOCK2_uc010jjm.3_Splice_Site_p.A393_splice	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	901					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACCAGGATGCGGTGAGTCCT	0.468													T	169230209	C	T	169230209	5	4	4	1	0	0	0	0	0	0	1	0	4687	782	27	1	2804	1	DOCK2	5	169230209	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1285289	169230209	11685051	1431	3496											
DOCK2	1794	broad.mit.edu	37	chr5	169463553	169463553	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taacaacagggaggagatgtAcataaggtaagattcatatt	10	4	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:169463553A>G	uc003maf.3	+	35	3739	c.3659A>G	c.(3658-3660)tAc>tGc	p.Y1220C	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.Y712C	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1220	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding	p.Y1220C(2)|p.Y1220H(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGGAGATGTACATAAGGTAA	0.418													G	169463553	A	G	169463553	3	3	4	1	0	0	0	0	1	0	0	0	4687	391	14	3	3801	3	DOCK2	5	169463553	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	233344	169463553	11451707	1432	3497											
FOXI1	2299	broad.mit.edu	37	chr5	169535053	169535053	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctttcacttttgtatcagGcaaagggaattactggaccc	8	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:169535053G>A	uc003mai.4	+	2	620	c.575_splice	c.e2-1	p.G192_splice	FOXI1_uc003maj.4_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	192					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTGTATCAGGCAAAGGGAAT	0.423									Pendred syndrome				A	169535053	G	A	169535053	5	1	4	1	0	0	0	0	0	0	1	0	6009	1217	42	2	581	2	FOXI1	5	169535053	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	71500	169535053	11380207	1433	3498											
STK10	6793	broad.mit.edu	37	chr5	171517345	171517345	+	Frame_Shift_Del	DEL	T	T	-													tttgcgtgtccgcttgagggTttttttgtacagtttcgggt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:171517344_171517344GT>G	uc003mbo.1	-	9	1877	c.1577_1577AC>C	c.(1576-1578)accfs	p.T526fs		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	526							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGCTTGAGGGTTTTTTTGTA	0.512													-	171517345	T	-	171517345	7	5	4	1	0	1	0	1	0	0	0	0	15285	1725	60	0	1370	0	STK10	5	171517345	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	1982292	171517345	9397915	1434	3499											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171777377	171777377	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcactcactctgcttggcGtcaccgtcgggcaccgggcg	13	15	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:171777377G>A	uc003mbr.3	-	9	1173	c.1002C>T	c.(1000-1002)gaC>gaT	p.D334D		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	334					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTGCTTGGCGTCACCGTCGG	0.642													A	171777377	G	A	171777377	2	1	4	1	0	0	0	0	0	0	0	1	14257	1136	40	1		1	SH3PXD2B	5	171777377	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	260032	171777377	9137883	1435	3500											
CPEB4	80315	broad.mit.edu	37	chr5	173317732	173317732	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcccctgaactccatctcGcctttgaagaaaaattttgc	6	13	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:173317732G>A	uc003mcs.4	+	0	2402	c.996G>A	c.(994-996)tcG>tcA	p.S332S	CPEB4_uc010jju.2_Silent_p.S332S|CPEB4_uc010jjv.3_Silent_p.S332S|CPEB4_uc011dfg.2_Silent_p.S332S|CPEB4_uc003mcu.4_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	332							RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACTCCATCTCGCCTTTGAAGA	0.537													A	173317732	G	A	173317732	2	1	4	1	0	0	0	0	0	0	0	1	3803	1074	38	1		1	CPEB4	5	173317732	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1540355	173317732	7597528	1436	3501											
CPEB4	80315	broad.mit.edu	37	chr5	173317747	173317748	+	Frame_Shift_Ins	INS	-	-	T													tctcgcctttgaagaaaaatINStttgcaagcaatcatattca							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:173317746_173317747A>AT	uc003mcs.4	+	0	2416_2417	c.1010_1011A>AT	c.(1009-1011)aatfs	p.N337fs	CPEB4_uc010jju.2_Frame_Shift_Ins_p.N337fs|CPEB4_uc010jjv.3_Frame_Shift_Ins_p.N337fs|CPEB4_uc011dfg.2_Frame_Shift_Ins_p.N337fs|CPEB4_uc003mcu.4_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	337							RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTGAAGAAAAATTTTGCAAGCA	0.515													T	173317748	-	T	173317747	7	5	4	1	0	1	1	0	0	0	0	0	3803	1490	52	0	1013	0	CPEB4	5	173317747	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	15	173317747	7597513	1437	3502											
CPLX2	10814	broad.mit.edu	37	chr5	175306958	175306958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggccatccctgcgggctgCggggacgaggaggaggagga	20	9	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:175306958C>T	uc003mde.1	+	4	661	c.315C>T	c.(313-315)tgC>tgT	p.C105C	CPLX2_uc003mdf.1_Silent_p.C105C|CPLX2_uc021yib.1_5'Flank	NM_006650	NP_006641	Q6PUV4	CPLX2_HUMAN	Homo sapiens complexin 2 (CPLX2), transcript variant 1, mRNA.	105					mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol		p.C105C(2)		endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTGCGGGCTGCGGGGACGAGG	0.627													T	175306958	C	T	175306958	2	4	4	1	0	0	0	0	0	0	0	1	3805	776	27	1		1	CPLX2	5	175306958	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1989211	175306958	5608302	1438	3503											
NOP16	51491	broad.mit.edu	37	chr5	175812233	175812234	+	Frame_Shift_Ins	INS	-	-	C													ccgctcaccttatagtcctcINScccgtggttctctaccatgt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:175812232_175812233T>TC	uc003mee.3	-	3	382_383	c.382_383A>GA	c.(382-384)gagfs	p.E128fs	NOP16_uc003med.3_Frame_Shift_Ins_p.E128fs|NOP16_uc011dfl.2_Frame_Shift_Ins_p.E128fs			Q9Y3C1	NOP16_HUMAN	Homo sapiens NOP16 nucleolar protein homolog (yeast) (NOP16), mRNA.	128						nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						CTTATAGTCCTCCCCGTGGTTC	0.569													C	175812234	-	C	175812233	7	5	4	1	0	1	1	0	0	0	0	0	10537	864	30	0	161	0	NOP16	5	175812233	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	505275	175812233	5103027	1439	3504											
FAF2	23197	broad.mit.edu	37	chr5	175919216	175919216	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgctcttcgttttatacgGcctgaccctcgcagccgggt	10	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:175919216G>A	uc003mej.4	+	4	419	c.366G>A	c.(364-366)cgG>cgA	p.R122R		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	Homo sapiens Fas associated factor family member 2 (FAF2), mRNA.	122					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GTTTTATACGGCCTGACCCTC	0.478													A	175919216	G	A	175919216	2	1	4	1	0	0	0	0	0	0	0	1	5370	1190	42	2		2	FAF2	5	175919216	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	106983	175919216	4996044	1440	3505											
CDHR2	54825	broad.mit.edu	37	chr5	176011688	176011688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaatgtgaaagacgtgaaCgacaatccccccaccctgga	10	12	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:176011688C>T	uc021yie.1	+	18	2680	c.2406C>T	c.(2404-2406)aaC>aaT	p.N802N	CDHR2_uc003mem.2_Silent_p.N802N|CDHR2_uc003men.1_Silent_p.N802N	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	802	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AAGACGTGAACGACAATCCCC	0.592													T	176011688	C	T	176011688	2	4	4	1	0	0	0	0	0	0	0	1	3119	535	19	1		1	CDHR2	5	176011688	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	92472	176011688	4903572	1441	3506											
NSD1	64324	broad.mit.edu	37	chr5	176638555	176638555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagccttaaagaccgagcGcaaaagaaaactgaatcagc	8	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:176638555G>A	uc003mfr.4	+	4	3293	c.3155G>A	c.(3154-3156)cGc>cAc	p.R1052H	NSD1_uc003mft.4_Missense_Mutation_p.R783H|NSD1_uc003mfs.1_Missense_Mutation_p.R949H|NSD1_uc011dfx.2_Missense_Mutation_p.R700H	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1052					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAGACCGAGCGCAAAAGAAAA	0.478			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			A	176638555	G	A	176638555	3	1	4	1	0	0	0	0	1	0	0	0	10669	1087	38	1	3169	1	NSD1	5	176638555	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	626867	176638555	4276705	1442	3507											
NSD1	64324	broad.mit.edu	37	chr5	176638998	176638998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaccctgtgcaggaggggCgggatgagtttccagagcat	17	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:176638998C>T	uc003mfr.4	+	4	3736	c.3598C>T	c.(3598-3600)Cgg>Tgg	p.R1200W	NSD1_uc003mft.4_Missense_Mutation_p.R931W|NSD1_uc003mfs.1_Missense_Mutation_p.R1097W|NSD1_uc011dfx.2_Missense_Mutation_p.R848W	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1200					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCAGGAGGGGCGGGATGAGTT	0.488			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			T	176638998	C	T	176638998	3	4	4	1	0	0	0	0	1	0	0	0	10669	759	27	1	3612	1	NSD1	5	176638998	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	443	176638998	4276262	1443	3508											
NSD1	64324	broad.mit.edu	37	chr5	176665366	176665366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcttgaaagggaggctccGtttttggagggccccttggc	15	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:176665366G>A	uc003mfr.4	+	6	4188	c.4050G>A	c.(4048-4050)ccG>ccA	p.P1350P	NSD1_uc003mft.4_Silent_p.P1081P|NSD1_uc003mfs.1_Silent_p.P1247P|NSD1_uc011dfx.2_Silent_p.P998P	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1350					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGGAGGCTCCGTTTTTGGAGG	0.537			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			A	176665366	G	A	176665366	2	1	4	1	0	0	0	0	0	0	0	1	10669	1132	40	1		1	NSD1	5	176665366	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	26368	176665366	4249894	1444	3509											
NSD1	64324	broad.mit.edu	37	chr5	176696802	176696802	+	Frame_Shift_Del	DEL	A	A	-													aaggagtggatgggacatatAaaaaaggtaactttatcctt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:176696801_176696801TA>T	uc003mfr.4	+	15	5640	c.5502_5502TA>T	c.(5500-5502)tatfs	p.Y1834fs	NSD1_uc003mft.4_Frame_Shift_Del_p.Y1565fs|NSD1_uc003mfs.1_Frame_Shift_Del_p.Y1731fs|NSD1_uc011dfx.2_Frame_Shift_Del_p.Y1482fs	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1834					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	p.A1837fs*10(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATGGGACATATAAAAAAGGTA	0.428			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			-	176696802	A	-	176696802	7	5	4	1	0	1	0	1	0	0	0	0	10669	363	13	0	5561	0	NSD1	5	176696802	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	31436	176696802	4218458	1445	3510											
DDX41	51428	broad.mit.edu	37	chr5	176941755	176941755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcccccaatgcagagggcGcagcgcaggagtggtgagct	16	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:176941755G>A	uc003mho.3	-	8	903	c.882C>T	c.(880-882)tgC>tgT	p.C294C	DDX41_uc003mhn.3_Silent_p.C163C|DDX41_uc003mhp.3_Silent_p.C163C|DDX41_uc003mhq.1_Silent_p.C74C	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	294	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TGCAGAGGGCGCAGCGCAGGA	0.657													A	176941755	G	A	176941755	2	1	4	1	0	0	0	0	0	0	0	1	4361	1079	38	1		1	DDX41	5	176941755	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	244953	176941755	3973505	1446	3511											
FAM193B	54540	broad.mit.edu	37	chr5	176965990	176965990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacccacagaggcatctcGcctaggagattcttgacgag	11	12	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:176965990G>A	uc003mhu.3	-	1	458	c.369C>T	c.(367-369)ggC>ggT	p.G123G	FAM193B_uc003mht.3_5'Flank|FAM193B_uc003mhv.3_5'UTR|FAM193B_uc003mhw.3_Non-coding_Transcript	NM_001190946	NP_001177875	Q6IPW0	Q6IPW0_HUMAN	Homo sapiens family with sequence similarity 193, member B (FAM193B), transcript variant 3, mRNA.	0										kidney(1)|large_intestine(3)	4						GAGGCATCTCGCCTAGGAGAT	0.552													A	176965990	G	A	176965990	2	1	4	1	0	0	0	0	0	0	0	1	5525	1074	38	1		1	FAM193B	5	176965990	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	24235	176965990	3949270	1447	3512											
B4GALT7	11285	broad.mit.edu	37	chr5	177035954	177035954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgggtacaagacatttcGccacctgcatgacccagcct	8	14	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:177035954G>A	uc003mhy.3	+	4	860	c.767G>A	c.(766-768)cGc>cAc	p.R256H	B4GALT7_uc003mhz.3_Missense_Mutation_p.R142H	NM_007255	NP_009186	Q9UBV7	B4GT7_HUMAN	Homo sapiens xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) (B4GALT7), mRNA.	256					fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGACATTTCGCCACCTGCAT	0.607													A	177035954	G	A	177035954	3	1	4	1	0	0	0	0	1	0	0	0	1276	1087	38	1	785	1	B4GALT7	5	177035954	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	69964	177035954	3879306	1448	3513											
CLK4	57396	broad.mit.edu	37	chr5	178032359	178032359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatattcgttccatcattgCcaggtgctctttactatcat	5	10	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:178032359C>T	uc003mjf.1	-	10	1267	c.1159G>A	c.(1159-1161)Gca>Aca	p.A387T	CLK4_uc003mjg.1_Missense_Mutation_p.A351T|CLK4_uc010jku.1_Missense_Mutation_p.A207T|CLK4_uc003mjh.1_Missense_Mutation_p.A207T|CLK4_uc010jkv.1_Non-coding_Transcript|CLK4_uc011dgg.1_Intron|CLK4_uc011dgh.1_Missense_Mutation_p.A207T	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	Homo sapiens CDC-like kinase 4 (CLK4), mRNA.	387	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TCCATCATTGCCAGGTGCTCT	0.323													T	178032359	C	T	178032359	3	4	4	1	0	0	0	0	1	0	0	0	3539	739	26	2	298	2	CLK4	5	178032359	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	996405	178032359	2882901	1449	3514											
RUFY1	80230	broad.mit.edu	37	chr5	178987036	178987036	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccccacagcttctaagtgCcagatgatggaggagcgtgc	13	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:178987036C>T	uc003mka.1	+	1	321	c.321C>T	c.(319-321)tgC>tgT	p.C107C	RUFY1_uc003mkb.1_5'UTR|RUFY1_uc003mkc.1_5'UTR	NM_025158	NP_001035542	Q96T51	RUFY1_HUMAN	Homo sapiens RUN and FYVE domain containing 1 (RUFY1), transcript variant 1, mRNA.	107					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCTAAGTGCCAGATGATGG	0.602										HNSCC(44;0.11)			T	178987036	C	T	178987036	2	4	4	1	0	0	0	0	0	0	0	1	13738	747	26	2		2	RUFY1	5	178987036	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	954677	178987036	1928224	1450	3515											
SQSTM1	8878	broad.mit.edu	37	chr5	179250014	179250014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaattgacaatggccatgTcctacgtgaaggatgacatc	11	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:179250014T>C	uc003mkw.4	+	1	357	c.262T>C	c.(262-264)Tcc>Ccc	p.S88P	SQSTM1_uc011dgr.2_Missense_Mutation_p.S4P|SQSTM1_uc011dgs.2_Missense_Mutation_p.S4P|SQSTM1_uc003mkx.3_Missense_Mutation_p.S4P	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Homo sapiens sequestosome 1 (SQSTM1), transcript variant 1, mRNA.	88	Interaction with PRKCZ and dimerization (By similarity).|OPR.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	SH2 domain binding|protein kinase C binding|receptor tyrosine kinase binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATGGCCATGTCCTACGTGAA	0.512													C	179250014	T	C	179250014	3	2	4	1	0	0	0	0	1	0	0	0	15129	1667	58	3	268	3	SQSTM1	5	179250014	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	262978	179250014	1665246	1451	3516											
MAPK9	5601	broad.mit.edu	37	chr5	179676011	179676011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccaggatgacttcgggcGcccggtagtaccgtgtcacc	12	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:179676011G>A	uc003mls.4	-	5	849	c.578C>T	c.(577-579)gCg>gTg	p.A193V	MAPK9_uc003mlv.4_Missense_Mutation_p.A193V|MAPK9_uc003mlt.4_Missense_Mutation_p.A193V|MAPK9_uc010jlc.3_Missense_Mutation_p.A193V|MAPK9_uc021yji.1_Missense_Mutation_p.A167V|MAPK9_uc021yjj.1_Missense_Mutation_p.A193V|MAPK9_uc021yjk.1_Missense_Mutation_p.A193V|MAPK9_uc021yjl.1_Missense_Mutation_p.A193V|MAPK9_uc011dgx.2_Missense_Mutation_p.A193V	NM_002752	NP_002743	P45984	MK09_HUMAN	Homo sapiens mitogen-activated protein kinase 9 (MAPK9), transcript variant JNK2-a2, mRNA.	193	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding	p.A193V(3)|p.R192L(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACTTCGGGCGCCCGGTAGTA	0.552													A	179676011	G	A	179676011	3	1	4	1	0	0	0	0	1	0	0	0	9287	1087	38	1	846	1	MAPK9	5	179676011	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	425997	179676011	1239249	1452	3517											
GFPT2	9945	broad.mit.edu	37	chr5	179745956	179745956	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgtgctctatgatagcGctggggcaagggaaacaggc	16	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:179745956G>A	uc003mlw.1	-	10	893	c.795_splice	c.e10-1	p.S265_splice		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	265	Glutamine amidotransferase type-2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTATGATAGCGCTGGGGCAAG	0.602													A	179745956	G	A	179745956	5	1	4	1	0	0	0	0	0	0	1	0	6346	1101	38	1	1293	1	GFPT2	5	179745956	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	69945	179745956	1169304	1453	3518											
BTNL3	10917	broad.mit.edu	37	chr5	180432665	180432665	+	Frame_Shift_Del	DEL	C	C	-													aatccccattttatcagcctCccccccagcacccctcctac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:180432664_180432664TC>T	uc003mmr.3	+	7	1377	c.1193_1193TC>T	c.(1192-1194)ctcfs	p.L398fs	BTNL3_uc010jlp.3_Frame_Shift_Del_p.L183fs	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	398	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	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)			TTTATCAGCCTCCCCCCCAGC	0.473													-	180432665	C	-	180432665	7	5	4	1	0	1	0	1	0	0	0	0	1566	842	30	0	1224	0	BTNL3	5	180432665	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	686709	180432665	482595	1454	3519											
EXOC2	55770	broad.mit.edu	37	chr6	549284	549284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttaggactatcaaaaggCgctgttcctaaaagcaaaac	7	9	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:549284C>T	uc003mtd.3	-	21	2263	c.2129G>A	c.(2128-2130)cGc>cAc	p.R710H	EXOC2_uc003mte.3_Missense_Mutation_p.R710H|EXOC2_uc011dho.2_Missense_Mutation_p.R305H	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	710					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TATCAAAAGGCGCTGTTCCTA	0.358													T	549284	C	T	549284	3	4	4	1	0	0	0	0	1	0	0	0	5302	768	27	1	673	1	EXOC2	6	549284	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08		549284	170565783	1455	3520											
EXOC2	55770	broad.mit.edu	37	chr6	576783	576783	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcgaccagactgaaagctgCtgcccctcttcagggacgct	10	15	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:576783C>A	uc003mtd.3	-	11	1426	c.1292G>T	c.(1291-1293)aGc>aTc	p.S431I	EXOC2_uc003mte.3_Missense_Mutation_p.S431I|EXOC2_uc011dho.2_Missense_Mutation_p.S26I	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	431					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTGAAAGCTGCTGCCCCTCTT	0.493													A	576783	C	A	576783	3	1	4	1	0	0	0	0	1	0	0	0	5302	797	28	5	1550	5	EXOC2	6	576783	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	27499	576783	170538284	1456	3521											
WRNIP1	56897	broad.mit.edu	37	chr6	2785298	2785298	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccaaagtccattgaggtgTacagcgcctacaacaacgtc	8	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:2785298T>C	uc003mtz.3	+	6	1971	c.1780T>C	c.(1780-1782)Tac>Cac	p.Y594H	WRNIP1_uc003mua.3_Missense_Mutation_p.Y569H	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Homo sapiens Werner helicase interacting protein 1 (WRNIP1), transcript variant 1, mRNA.	594					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding	p.V593M(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CATTGAGGTGTACAGCGCCTA	0.567													C	2785298	T	C	2785298	3	2	4	1	0	0	0	0	1	0	0	0	17400	1638	57	3	1806	3	WRNIP1	6	2785298	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	2208515	2785298	168329769	1457	3522											
SERPINB9	5272	broad.mit.edu	37	chr6	2900805	2900805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacagtatctttaaaaggCgtatggcaaaagtaccactt	8	8	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:2900805C>T	uc003mug.3	-	1	162	c.41G>A	c.(40-42)cGc>cAc	p.R14H	AY927512_uc003mue.3_Non-coding_Transcript|SERPINB9_uc003muh.3_Missense_Mutation_p.R14H	NM_004155	NP_004146	P50453	SPB9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 9 (SERPINB9), mRNA.	14					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				CTTTAAAAGGCGTATGGCAAA	0.468													T	2900805	C	T	2900805	3	4	4	1	0	0	0	0	1	0	0	0	14108	768	27	1	1113	1	SERPINB9	6	2900805	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	115507	2900805	168214262	1458	3523											
RIPK1	8737	broad.mit.edu	37	chr6	3083441	3083441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccctctactacatggcGcccgagcacctgaatgacgt	10	15	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:3083441G>A	uc010jni.3	+	4	814	c.582G>A	c.(580-582)gcG>gcA	p.A194A	RIPK1_uc003muv.4_Silent_p.A31A|RIPK1_uc003mux.3_Silent_p.A194A|RIPK1_uc011dhs.2_Silent_p.A148A	NM_003804	NP_003795	Q13546	RIPK1_HUMAN	Homo sapiens receptor (TNFRSF)-interacting serine-threonine kinase 1 (RIPK1), mRNA.	194	Protein kinase.				MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|positive regulation of interleukin-8 production|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				ACTACATGGCGCCCGAGCACC	0.502													A	3083441	G	A	3083441	2	1	4	1	0	0	0	0	0	0	0	1	13380	1074	38	1		1	RIPK1	6	3083441	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	182636	3083441	168031626	1459	3524											
FAM50B	26240	broad.mit.edu	37	chr6	3850869	3850869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgtgcacgatgacgtgcGcctgctcagcgacgccacca	12	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:3850869G>A	uc003mvu.3	+	1	936	c.824G>A	c.(823-825)cGc>cAc	p.R275H	FAM50B_uc021ykt.1_Missense_Mutation_p.R275H	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA.	275						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GATGACGTGCGCCTGCTCAGC	0.627													A	3850869	G	A	3850869	3	1	4	1	0	0	0	0	1	0	0	0	5578	1087	38	1	826	1	FAM50B	6	3850869	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	767428	3850869	167264198	1460	3525											
CDYL	9425	broad.mit.edu	37	chr6	4935874	4935874	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaccagccttttgacaagCgattgcgtttcagcgtgagg	13	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:4935874C>T	uc003mwi.3	+	4	1110	c.979C>T	c.(979-981)Cga>Tga	p.R327*	CDYL_uc003mwj.3_Nonsense_Mutation_p.R273*|CDYL_uc003mwk.3_Nonsense_Mutation_p.R38*|CDYL_uc011dhx.2_Nonsense_Mutation_p.R141*|CDYL_uc011dhy.2_Nonsense_Mutation_p.R141*	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	Homo sapiens chromodomain protein, Y-like (CDYL), transcript variant 5, mRNA.	327					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TTTTGACAAGCGATTGCGTTT	0.453													T	4935874	C	T	4935874	4	4	4	1	0	0	0	0	0	1	0	0	3185	760	27	1	827	1	CDYL	6	4935874	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1085005	4935874	166179193	1461	3526											
FARS2	10667	broad.mit.edu	37	chr6	5368994	5368994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccctcaggacgaccacaGcaacctcacccggaaggtcc	8	18	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:5368994G>A	uc010jnv.1	+	1	527	c.191G>A	c.(190-192)aGc>aAc	p.S64N	FARS2_uc003mwr.2_Missense_Mutation_p.S64N	NM_006567	NP_006558	O95363	SYFM_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	64					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	GACGACCACAGCAACCTCACC	0.607													A	5368994	G	A	5368994	3	1	4	1	0	0	0	0	1	0	0	0	5678	971	34	2	193	2	FARS2	6	5368994	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	433120	5368994	165746073	1462	3527											
NRN1	51299	broad.mit.edu	37	chr6	6002648	6002648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtagttggccatgctgtcGcccagcttgagcaaacagtc	13	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:6002648G>A	uc003mwu.3	-	1	789	c.138C>T	c.(136-138)ggC>ggT	p.G46G	NRN1_uc021ykx.1_Non-coding_Transcript	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN	Homo sapiens neuritin 1 (NRN1), mRNA.	46						anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		CCATGCTGTCGCCCAGCTTGA	0.607													A	6002648	G	A	6002648	2	1	4	1	0	0	0	0	0	0	0	1	10658	1074	38	1		1	NRN1	6	6002648	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	633654	6002648	165112419	1463	3528											
RREB1	6239	broad.mit.edu	37	chr6	7229286	7229286	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaacaccgttttgtctgCgacacctgtgacaaggcgtt	11	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:7229286C>T	uc003mxb.3	+	9	1446	c.954C>T	c.(952-954)tgC>tgT	p.C318C	RREB1_uc021yky.1_Silent_p.C318C|RREB1_uc003mxc.3_Silent_p.C318C|RREB1_uc010jnx.3_Silent_p.C318C|RREB1_uc021ykz.1_Silent_p.C318C|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	318					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GTTTTGTCTGCGACACCTGTG	0.567													T	7229286	C	T	7229286	2	4	4	1	0	0	0	0	0	0	0	1	13679	776	27	1		1	RREB1	6	7229286	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1226638	7229286	163885781	1464	3529											
RREB1	6239	broad.mit.edu	37	chr6	7229303	7229303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgacacctgtgacaaggCgttccccatgctctgctcac	9	16	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:7229303C>T	uc003mxb.3	+	9	1463	c.971C>T	c.(970-972)gCg>gTg	p.A324V	RREB1_uc021yky.1_Missense_Mutation_p.A324V|RREB1_uc003mxc.3_Missense_Mutation_p.A324V|RREB1_uc010jnx.3_Missense_Mutation_p.A324V|RREB1_uc021ykz.1_Missense_Mutation_p.A324V|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	324					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TGTGACAAGGCGTTCCCCATG	0.592													T	7229303	C	T	7229303	3	4	4	1	0	0	0	0	1	0	0	0	13679	768	27	1	997	1	RREB1	6	7229303	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	17	7229303	163885764	1465	3530											
RREB1	6239	broad.mit.edu	37	chr6	7247285	7247285	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccctccgacggggagagCgcggccgagaaaaggtcctc	16	14	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:7247285C>T	uc003mxb.3	+	11	5094	c.4602C>T	c.(4600-4602)agC>agT	p.S1534S	RREB1_uc021yky.1_Silent_p.S1479S|RREB1_uc003mxc.3_Silent_p.S1479S|RREB1_uc010jnx.3_Intron|RREB1_uc021ykz.1_Intron|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	1479					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ACGGGGAGAGCGCGGCCGAGA	0.662													T	7247285	C	T	7247285	2	4	4	1	0	0	0	0	0	0	0	1	13679	767	27	1		1	RREB1	6	7247285	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	17982	7247285	163867782	1466	3531											
DSP	1832	broad.mit.edu	37	chr6	7583315	7583315	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatatcagagggagattgaTaaactcagacagcgcccata	10	9	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:7583315T>C	uc003mxp.1	+	23	6099	c.5820T>C	c.(5818-5820)gaT>gaC	p.D1940D	DSP_uc003mxq.1_Silent_p.D1341D|DSP_uc021yle.1_Silent_p.D1497D	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1940	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGGAGATTGATAAACTCAGAC	0.517													C	7583315	T	C	7583315	2	2	4	1	0	0	0	0	0	0	0	1	4781	1403	49	3		3	DSP	6	7583315	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	336030	7583315	163531752	1467	3532											
DSP	1832	broad.mit.edu	37	chr6	7584793	7584793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcaactaaaagaaagatGcattaaggatgaggaaacag	10	5	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:7584793G>A	uc003mxp.1	+	23	7577	c.7298G>A	c.(7297-7299)tGc>tAc	p.C2433Y	DSP_uc003mxq.1_Missense_Mutation_p.C1834Y|DSP_uc021yle.1_Missense_Mutation_p.C1990Y	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2433	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAGAAAGATGCATTAAGGAT	0.413													A	7584793	G	A	7584793	3	1	4	1	0	0	0	0	1	0	0	0	4781	1319	46	2	7392	2	DSP	6	7584793	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1478	7584793	163530274	1468	3533											
SNRNP48	154007	broad.mit.edu	37	chr6	7606353	7606353	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcacgacatagaagggataGgagtagaagcccacataaaa	10	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:7606353G>T	uc003mxr.3	+	7	955	c.896G>T	c.(895-897)aGg>aTg	p.R299M	SNRNP48_uc003mxs.3_Non-coding_Transcript|SNRNP48_uc003mxt.1_Missense_Mutation_p.R51M	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA.	299	Arg-rich.				mRNA processing	U12-type spliceosomal complex|cytoplasm	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AGAAGGGATAGGAGTAGAAGC	0.428													T	7606353	G	T	7606353	3	4	4	1	0	0	0	0	1	0	0	0	14857	1000	35	5	926	5	SNRNP48	6	7606353	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	21560	7606353	163508714	1469	3534											
SLC35B3	51000	broad.mit.edu	37	chr6	8428259	8428259	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtaaggtaccagccacaGgacttaaaaccctccactga	8	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:8428259G>A	uc011did.2	-	3	707	c.330C>T	c.(328-330)tcC>tcT	p.S110S	SLC35B3_uc003myc.3_Non-coding_Transcript|SLC35B3_uc003myd.3_Non-coding_Transcript|SLC35B3_uc010joe.3_Silent_p.S110S|SLC35B3_uc003myb.3_Silent_p.S110S	NM_001142540	NP_057032	Q9H1N7	S35B3_HUMAN	Homo sapiens solute carrier family 35, member B3 (SLC35B3), transcript variant 2, mRNA.	110					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					ACCAGCCACAGGACTTAAAAC	0.378													A	8428259	G	A	8428259	2	1	4	1	0	0	0	0	0	0	0	1	14577	987	35	4		4	SLC35B3	6	8428259	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	821906	8428259	162686808	1470	3535											
MAK	4117	broad.mit.edu	37	chr6	10809075	10809075	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acataatcagtgtatggtggCtgtgaccttaattctcttgc	9	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:10809075C>T	uc021ylk.1	-	5	741	c.459G>A	c.(457-459)caG>caA	p.Q153Q	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.3_Non-coding_Transcript|MAK_uc010jou.3_Non-coding_Transcript|MAK_uc003mzm.3_Silent_p.Q153Q|MAK_uc021yll.1_Silent_p.Q153Q|MAK_uc010jov.2_Non-coding_Transcript|MAK_uc021ylm.1_Non-coding_Transcript	NM_001242957	NP_001229886	P20794	MAK_HUMAN	Homo sapiens male germ cell-associated kinase (MAK), transcript variant 3, mRNA.	153	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TGTATGGTGGCTGTGACCTTA	0.423													T	10809075	C	T	10809075	2	4	4	1	0	0	0	0	0	0	0	1	9197	796	28	2		2	MAK	6	10809075	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2380816	10809075	160305992	1471	3536											
GCM2	9247	broad.mit.edu	37	chr6	10875058	10875058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgggaaggaagggcaagGctgccctggaatagggaagc	17	7	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:10875058G>A	uc003mzn.4	-	4	763	c.691C>T	c.(691-693)Cct>Tct	p.P231S	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	231					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GAAGGGCAAGGCTGCCCTGGA	0.458													A	10875058	G	A	10875058	3	1	4	1	0	0	0	0	1	0	0	0	6298	1203	42	2	833	2	GCM2	6	10875058	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	65983	10875058	160240009	1472	3537											
SYCP2L	221711	broad.mit.edu	37	chr6	10924769	10924769	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatcatttacctgaagaaGcccatgattatcagctacaa	5	9	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:10924769G>A	uc003mzo.3	+	14	1409	c.1113G>A	c.(1111-1113)aaG>aaA	p.K371K	SYCP2L_uc011din.1_Silent_p.K212K|SYCP2L_uc010jow.3_5'UTR	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	371						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ACCTGAAGAAGCCCATGATTA	0.299													A	10924769	G	A	10924769	2	1	4	1	0	0	0	0	0	0	0	1	15430	962	34	2		2	SYCP2L	6	10924769	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	49711	10924769	160190298	1473	3538											
SYCP2L	221711	broad.mit.edu	37	chr6	10924823	10924823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagaaatccattttgatttGcagttcaacatatcacaagt	5	7	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:10924823G>A	uc003mzo.3	+	14	1463	c.1167G>A	c.(1165-1167)ttG>ttA	p.L389L	SYCP2L_uc011din.1_Silent_p.L230L|SYCP2L_uc010jow.3_Silent_p.L9L	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	389						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ATTTTGATTTGCAGTTCAACA	0.313													A	10924823	G	A	10924823	2	1	4	1	0	0	0	0	0	0	0	1	15430	1310	46	2		2	SYCP2L	6	10924823	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	54	10924823	160190244	1474	3539											
ELOVL2	54898	broad.mit.edu	37	chr6	10995330	10995330	+	Frame_Shift_Del	DEL	T	T	-													aagaaaagtaatctgactcgTttttttccgcaaaacgaaga							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:10995329_10995329GT>G	uc003mzp.4	-	4	577	c.416_416AC>C	c.(415-417)acgfs	p.T139fs		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	Homo sapiens ELOVL fatty acid elongase 2 (ELOVL2), mRNA.	139					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			AATCTGACTCGTTTTTTTCCG	0.363													-	10995330	T	-	10995330	7	5	4	1	0	1	0	1	0	0	0	0	5074	1725	60	0	491	0	ELOVL2	6	10995330	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	70507	10995330	160119737	1475	3540											
NEDD9	4739	broad.mit.edu	37	chr6	11190445	11190445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtctgaagagggcctctgCgttggtgttgatggttgtgg	19	5	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:11190445C>T	uc003mzv.2	-	4	1824	c.1657G>A	c.(1657-1659)Gca>Aca	p.A553T	NEDD9_uc010joz.2_Missense_Mutation_p.A553T|NEDD9_uc003mzw.3_Missense_Mutation_p.A407T	NM_006403	NP_006394	Q14511	CASL_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 9 (NEDD9), transcript variant 1, mRNA.	553					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	Golgi apparatus|cell cortex|focal adhesion|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			AGGGCCTCTGCGTTGGTGTTG	0.592													T	11190445	C	T	11190445	3	4	4	1	0	0	0	0	1	0	0	0	10313	768	27	1	859	1	NEDD9	6	11190445	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	195115	11190445	159924622	1476	3541											
EDN1	1906	broad.mit.edu	37	chr6	12296243	12296243	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatcttttcatgatcccaaGctgaaaggcaagccctccag	7	13	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:12296243G>T	uc003nae.4	+	4	916	c.582G>T	c.(580-582)aaG>aaT	p.K194N	EDN1_uc003nad.3_3'UTR|EDN1_uc003naf.4_Missense_Mutation_p.K193N	NM_001955	NP_001946	P05305	EDN1_HUMAN	Homo sapiens endothelin 1 (EDN1), transcript variant 1, mRNA.	194					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of JUN kinase activity|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				ATGATCCCAAGCTGAAAGGCA	0.458													T	12296243	G	T	12296243	3	4	4	1	0	0	0	0	1	0	0	0	4916	962	34	5	600	5	EDN1	6	12296243	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1105798	12296243	158818824	1477	3542											
RANBP9	10048	broad.mit.edu	37	chr6	13638133	13638133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggtgtttattactatggCaatatgattgatgtgcttta	9	4	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:13638133C>T	uc003nbb.3	-	9	1639	c.1580G>A	c.(1579-1581)tGc>tAc	p.C527Y	RANBP9_uc003nba.3_Missense_Mutation_p.C186Y	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	Homo sapiens RAN binding protein 9 (RANBP9), mRNA.	527					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ATTACTATGGCAATATGATTG	0.313													T	13638133	C	T	13638133	3	4	4	1	0	0	0	0	1	0	0	0	13032	710	25	2	629	2	RANBP9	6	13638133	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1341890	13638133	157476934	1478	3543											
DTNBP1	84062	broad.mit.edu	37	chr6	15627674	15627674	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctttttcttctcccagtgCgcagaaagcatgaccacctc	7	14	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:15627674C>T	uc003nbm.3	-	4	444	c.255G>A	c.(253-255)gcG>gcA	p.A85A	DTNBP1_uc003nbl.3_Silent_p.A4A|DTNBP1_uc010jph.3_Silent_p.A72A|DTNBP1_uc003nbp.3_Silent_p.A85A	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	85					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding	p.S84C(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TCTCCCAGTGCGCAGAAAGCA	0.493									Hermansky-Pudlak syndrome				T	15627674	C	T	15627674	2	4	4	1	0	0	0	0	0	0	0	1	4790	755	27	1		1	DTNBP1	6	15627674	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1989541	15627674	155487393	1479	3544											
MYLIP	29116	broad.mit.edu	37	chr6	16143955	16143955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttatcctgtggtgcagatgGccacccagtcaggaaagaat	11	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:16143955G>A	uc003nbq.3	+	4	925	c.688G>A	c.(688-690)Gcc>Acc	p.A230T	MYLIP_uc003nbr.3_Missense_Mutation_p.A49T	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.	230	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GGTGCAGATGGCCACCCAGTC	0.483													A	16143955	G	A	16143955	3	1	4	1	0	0	0	0	1	0	0	0	10055	1203	42	2	706	2	MYLIP	6	16143955	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	516281	16143955	154971112	1480	3545											
CAP2	10486	broad.mit.edu	37	chr6	17421836	17421836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggaacgagctgtcagccGcctggagtcgctgtctgcag	14	12	2	0	rs141863829		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:17421836G>A	uc003ncb.3	+	1	293	c.50G>A	c.(49-51)cGc>cAc	p.R17H	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.R17H|CAP2_uc011djb.2_Missense_Mutation_p.R17H|CAP2_uc011djc.2_Missense_Mutation_p.R17H|CAP2_uc011djd.2_Missense_Mutation_p.R17H	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	17					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	p.S16G(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GCTGTCAGCCGCCTGGAGTCG	0.567													A	17421836	G	A	17421836	3	1	4	1	0	0	0	0	1	0	0	0	2620	1087	38	1	52	1	CAP2	6	17421836	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1277881	17421836	153693231	1481	3546											
CAP2	10486	broad.mit.edu	37	chr6	17543142	17543142	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcttacattttcaaatgCgaaaaatcaactattcagat	6	7	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:17543142C>T	uc003ncb.3	+	9	1320	c.1077C>T	c.(1075-1077)tgC>tgT	p.C359C	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Silent_p.C333C|CAP2_uc011djb.2_Silent_p.C295C|CAP2_uc011djc.2_Silent_p.C247C|CAP2_uc011djd.2_Silent_p.C99C	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	359	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TTTTCAAATGCGAAAAATCAA	0.333													T	17543142	C	T	17543142	2	4	4	1	0	0	0	0	0	0	0	1	2620	776	27	1		1	CAP2	6	17543142	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	121306	17543142	153571925	1482	3547											
FAM8A1	51439	broad.mit.edu	37	chr6	17608468	17608468	+	Frame_Shift_Del	DEL	T	T	-													aagaatttttcaattgcttcTtttttccctgctttcatcac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:17608467_17608467CT>C	uc003ncc.3	+	4	1262	c.1139_1139CT>C	c.(1138-1140)tctfs	p.S380fs		NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	Homo sapiens family with sequence similarity 8, member A1 (FAM8A1), mRNA.	380	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			TCAATTGCTTCTTTTTTCCCT	0.343													-	17608468	T	-	17608468	7	5	4	1	0	1	0	1	0	0	0	0	5649	1596	56	0	1158	0	FAM8A1	6	17608468	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	65326	17608468	153506599	1483	3548											
NUP153	9972	broad.mit.edu	37	chr6	17637996	17637996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatctatcttcggcgatgCgaaacctacaatgaacgaag	9	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:17637996C>T	uc003ncd.1	-	15	2052	c.1852G>A	c.(1852-1854)Gca>Aca	p.A618T	NUP153_uc011dje.1_Missense_Mutation_p.A649T|NUP153_uc010jpl.1_Missense_Mutation_p.A576T	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	618					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TTCGGCGATGCGAAACCTACA	0.403													T	17637996	C	T	17637996	3	4	4	1	0	0	0	0	1	0	0	0	10755	768	27	1	2603	1	NUP153	6	17637996	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	29528	17637996	153477071	1484	3549											
NUP153	9972	broad.mit.edu	37	chr6	17640225	17640225	+	Frame_Shift_Del	DEL	A	A	-													ttcaggatttctgcaggtctAaaaggaccctcacaatcttc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:17640224_17640224TA>T	uc003ncd.1	-	14	1992	c.1792_1792TA>A	c.(1792-1794)agafs	p.R598fs	NUP153_uc011dje.1_Frame_Shift_Del_p.R629fs|NUP153_uc010jpl.1_Intron	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	598					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	p.R598S(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TCTGCAGGTCTAAAAGGACCC	0.333													-	17640225	A	-	17640225	7	5	4	1	0	1	0	1	0	0	0	0	10755	359	13	0	2668	0	NUP153	6	17640225	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	2229	17640225	153474842	1485	3550											
KDM1B	221656	broad.mit.edu	37	chr6	18200736	18200736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgataaatcttttaaaggcGtcacagtgggaagaggagct	12	5	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:18200736G>A	uc003nco.1	+	5	754	c.679G>A	c.(679-681)Gtc>Atc	p.V227I	KDM1B_uc003ncn.1_Missense_Mutation_p.V298I	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA.	430					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TTTTAAAGGCGTCACAGTGGG	0.428													A	18200736	G	A	18200736	3	1	4	1	0	0	0	0	1	0	0	0	8123	1145	40	1	926	1	KDM1B	6	18200736	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	560511	18200736	152914331	1486	3551											
RNF144B	255488	broad.mit.edu	37	chr6	18399839	18399840	+	Frame_Shift_Ins	INS	-	-	C													cctggagacctggctccggcINSccccctcatcacttgcaaac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:18399838_18399839G>GC	uc003ncs.3	+	1	390_391	c.73_74G>GC	c.(73-75)gccfs	p.A25fs		NM_182757	NP_877434	Q7Z419	R144B_HUMAN	Homo sapiens ring finger protein 144B (RNF144B), mRNA.	25					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			CCTGGCTCCGGCCCCCCTCATC	0.54													C	18399840	-	C	18399839	7	5	4	1	0	1	1	0	0	0	0	0	13446	739	26	0	76	0	RNF144B	6	18399839	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	199103	18399839	152715228	1487	3552											
MBOAT1	154141	broad.mit.edu	37	chr6	20118754	20118754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaacccaaagccagctgCgttattcactgcatcagcta	8	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:20118754C>T	uc003ncx.1	-	8	1130	c.925G>A	c.(925-927)Gca>Aca	p.A309T	MBOAT1_uc011dji.1_Missense_Mutation_p.A160T	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 1 (MBOAT1), mRNA.	309					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			AAGCCAGCTGCGTTATTCACT	0.393													T	20118754	C	T	20118754	3	4	4	1	0	0	0	0	1	0	0	0	9356	768	27	1	582	1	MBOAT1	6	20118754	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1718915	20118754	150996313	1488	3553											
E2F3	1871	broad.mit.edu	37	chr6	20481611	20481611	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatcaccaacgttctggaagGcatccacctcattaagaaga	7	11	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:20481611G>T	uc003nda.2	+	2	1007	c.680G>T	c.(679-681)gGc>gTc	p.G227V	E2F3_uc003ncz.2_Missense_Mutation_p.G221V|E2F3_uc021ymj.1_Missense_Mutation_p.G96V	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	227					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			GTTCTGGAAGGCATCCACCTC	0.483													T	20481611	G	T	20481611	3	4	4	1	0	0	0	0	1	0	0	0	4868	1203	42	5	690	5	E2F3	6	20481611	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	362857	20481611	150633456	1489	3554											
CDKAL1	54901	broad.mit.edu	37	chr6	20546663	20546663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcaaaaccacaagataggCattttgtaagaaaggatgtt	8	5	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:20546663C>T	uc003ndd.2	+	2	249	c.82C>T	c.(82-84)Cat>Tat	p.H28Y	CDKAL1_uc003nde.2_5'UTR|CDKAL1_uc021ymk.1_Missense_Mutation_p.H28Y|CDKAL1_uc010jpo.1_Missense_Mutation_p.H28Y|CDKAL1_uc003ndb.1_Missense_Mutation_p.H28Y	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	28					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			ACAAGATAGGCATTTTGTAAG	0.408													T	20546663	C	T	20546663	3	4	4	1	0	0	0	0	1	0	0	0	3152	710	25	2	84	2	CDKAL1	6	20546663	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	65052	20546663	150568404	1490	3555											
PRL	5617	broad.mit.edu	37	chr6	22294697	22294697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggacaggacgacggcgcGgtcaaacaggtctcgaaggg	18	9	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:22294697G>A	uc003ndp.3	-	1	664	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	PRL_uc003ndo.3_Missense_Mutation_p.R50C|PRL_uc003ndq.3_Missense_Mutation_p.R49C|PRL_uc003ndr.1_Non-coding_Transcript	NM_000948	NP_001157030	P01236	PRL_HUMAN	Homo sapiens prolactin (PRL), transcript variant 1, mRNA.	49					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					ACGACGGCGCGGTCAAACAGG	0.597													A	22294697	G	A	22294697	3	1	4	1	0	0	0	0	1	0	0	0	12528	1116	39	1	554	1	PRL	6	22294697	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1748034	22294697	148820370	1491	3556											
KIAA0319	9856	broad.mit.edu	37	chr6	24588855	24588855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtaggagatatgggtagCtcagatggggtggactcaga	18	4	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:24588855C>T	uc011djo.2	-	3	1460	c.960G>A	c.(958-960)gaG>gaA	p.E320E	KIAA0319_uc011djp.2_Silent_p.E275E|KIAA0319_uc003neh.1_Silent_p.E320E|KIAA0319_uc011djq.1_Silent_p.E311E|KIAA0319_uc011djr.1_Silent_p.E320E	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	320					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ATATGGGTAGCTCAGATGGGG	0.507													T	24588855	C	T	24588855	2	4	4	1	0	0	0	0	0	0	0	1	8168	796	28	2		2	KIAA0319	6	24588855	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2294158	24588855	146526212	1492	3557											
C6orf62	81688	broad.mit.edu	37	chr6	24714622	24714622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgattttttcaatatcattcCgaggccaaagaatgaaatcc	6	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:24714622C>T	uc003nel.3	-	2	860	c.353G>A	c.(352-354)cGg>cAg	p.R118Q		NM_030939	NP_112201	Q9GZU0	CF062_HUMAN	Homo sapiens chromosome 6 open reading frame 62 (C6orf62), mRNA.	118						intracellular		p.R118W(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						AATATCATTCCGAGGCCAAAG	0.343													T	24714622	C	T	24714622	3	4	4	1	0	0	0	0	1	0	0	0	2368	652	23	1	348	1	C6orf62	6	24714622	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	125767	24714622	146400445	1493	3558											
LRRC16A	55604	broad.mit.edu	37	chr6	25594745	25594745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccaagaaggtgaccaaaAtggattccaagtgagttcag	10	7	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:25594745A>G	uc011djw.2	+	31	3477	c.3109A>G	c.(3109-3111)Atg>Gtg	p.M1037V	LRRC16A_uc010jpy.3_Missense_Mutation_p.M1037V	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	1037	Inhibits capping activity of CAPZA2 (By similarity).				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GGTGACCAAAATGGATTCCAA	0.343													G	25594745	A	G	25594745	3	3	4	1	0	0	0	0	1	0	0	0	8971	101	4	3	3235	3	LRRC16A	6	25594745	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	880123	25594745	145520322	1494	3559											
HIST1H1A	3024	broad.mit.edu	37	chr6	26017792	26017792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaacgacacaccaccacGctccttagaggaggaagcag	10	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:26017792G>A	uc003nfo.3	-	0	249	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C	HIST1H3A_uc003nfp.1_5'Flank	NM_005325	NP_005316	Q02539	H11_HUMAN	Homo sapiens histone cluster 1, H1a (HIST1H1A), mRNA.	57	H15.				nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						ACACCACCACGCTCCTTAGAG	0.572													A	26017792	G	A	26017792	3	1	4	1	0	0	0	0	1	0	0	0	7122	1087	38	1	482	1	HIST1H1A	6	26017792	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	423047	26017792	145097275	1495	3560											
HFE	3077	broad.mit.edu	37	chr6	26093362	26093362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttagagccctcaccgtctgGcaccctagtcattggagtca	9	13	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:26093362G>A	uc003nfx.1	+	4	1068	c.908G>A	c.(907-909)gGc>gAc	p.G303D	HFE_uc003nfy.1_Missense_Mutation_p.G280D|HFE_uc010jqe.1_Missense_Mutation_p.G300D|HFE_uc003nfz.1_Missense_Mutation_p.G215D|HFE_uc003ngd.1_Missense_Mutation_p.G201D|HFE_uc003nga.1_Missense_Mutation_p.G289D|HFE_uc003ngb.1_Missense_Mutation_p.G197D|HFE_uc003ngc.1_Missense_Mutation_p.G211D|HFE_uc003nge.1_Missense_Mutation_p.G123D|HFE_uc003ngf.1_Missense_Mutation_p.G31D	NM_000410	NP_000401	Q30201	HFE_HUMAN	Homo sapiens hemochromatosis (HFE), transcript variant 1, mRNA.	303	Connecting peptide.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	MHC class I protein complex|apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCACCGTCTGGCACCCTAGTC	0.448									Hemochromatosis				A	26093362	G	A	26093362	3	1	4	1	0	0	0	0	1	0	0	0	7081	1203	42	2	926	2	HFE	6	26093362	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	75570	26093362	145021705	1496	3561											
HIST1H1T	3010	broad.mit.edu	37	chr6	26107824	26107824	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctttagcctttctcccGctcctaacagttttaggagt	7	13	1	0	rs143215132	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:26107824G>A	uc003ngj.3	-	0	541	c.498C>T	c.(496-498)agC>agT	p.S166S		NM_005323	NP_005314	P22492	H1T_HUMAN	Homo sapiens histone cluster 1, H1t (HIST1H1T), mRNA.	166					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CCTTTCTCCCGCTCCTAACAG	0.473													A	26107824	G	A	26107824	2	1	4	1	0	0	0	0	0	0	0	1	7127	1078	38	1		1	HIST1H1T	6	26107824	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	14462	26107824	145007243	1497	3562											
HIST1H2AC	8334	broad.mit.edu	37	chr6	26124765	26124765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaactgctaggccgggtgaCcattgctcagggcggcgtcc	14	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:26124765C>T	uc003ngm.3	+	0	393	c.305C>T	c.(304-306)aCc>aTc	p.T102I	HIST1H2BC_uc003ngk.4_5'Flank|HIST1H2BC_uc003ngl.3_5'Flank|HIST1H2AC_uc003ngo.3_Non-coding_Transcript	NM_003512	NP_003503	Q93077	H2A1C_HUMAN	Homo sapiens histone cluster 1, H2ac (HIST1H2AC), mRNA.	102					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						GGCCGGGTGACCATTGCTCAG	0.582													T	26124765	C	T	26124765	3	4	4	1	0	0	0	0	1	0	0	0	7130	507	18	4	307	4	HIST1H2AC	6	26124765	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	16941	26124765	144990302	1498	3563											
HIST1H3E	8353	broad.mit.edu	37	chr6	26225715	26225715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgaggacaccaacctgtgCgctattcatgccaaacgcgt	9	13	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:26225715C>T	uc003nhb.2	+	1	693	c.333C>T	c.(331-333)tgC>tgT	p.C111C	HIST1H3E_uc003nhc.4_Silent_p.C111C	NM_021018	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3f (HIST1H3F), mRNA.	111					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding	p.C111C(2)		endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				CCAACCTGTGCGCTATTCATG	0.567											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	26225715	C	T	26225715	2	4	4	1	0	0	0	0	0	0	0	1	7159	776	27	1		1	HIST1H3E	6	26225715	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	100950	26225715	144889352	1499	3564											
HIST1H2BH	8345	broad.mit.edu	37	chr6	26252014	26252014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtatacgtttacaaggtgCtgaagcaagtccaccccgac	9	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:26252014C>T	uc003nhh.3	+	0	136	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L	HIST1H3F_uc003nhg.1_5'Flank	NM_003524	NP_003515	Q93079	H2B1H_HUMAN	Homo sapiens histone cluster 1, H2bh (HIST1H2BH), mRNA.	46					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						TTACAAGGTGCTGAAGCAAGT	0.557													T	26252014	C	T	26252014	2	4	4	1	0	0	0	0	0	0	0	1	7147	796	28	2		2	HIST1H2BH	6	26252014	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	26299	26252014	144863053	1500	3565											
BTN2A2	10385	broad.mit.edu	37	chr6	26390250	26390250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaatcctttatgcccagcGcatctccctggatggtggcc	10	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:26390250G>A	uc003nht.3	+	4	875	c.742G>A	c.(742-744)Gca>Aca	p.A248T	BTN2A2_uc003nhs.3_Missense_Mutation_p.A248T|BTN2A2_uc011dkf.2_Missense_Mutation_p.A132T|BTN2A2_uc003nhq.3_Missense_Mutation_p.A248T|BTN2A2_uc003nhr.3_Missense_Mutation_p.A132T|BTN2A2_uc011dkh.2_Missense_Mutation_p.A38T|BTN2A2_uc011dkg.2_Missense_Mutation_p.A154T|BTN2A2_uc011dki.1_5'UTR	NM_001197237	NP_001184166	Q8WVV5	BT2A2_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A2 (BTN2A2), transcript variant 3, mRNA.	248					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		p.A248T(2)		breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TATGCCCAGCGCATCTCCCTG	0.493													A	26390250	G	A	26390250	3	1	4	1	0	0	0	0	1	0	0	0	1561	1087	38	1	756	1	BTN2A2	6	26390250	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	138236	26390250	144724817	1501	3566											
BTN2A2	10385	broad.mit.edu	37	chr6	26392964	26392964	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtccctttgccgggtgggCgtcttcctggactatgaagc	14	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:26392964C>T	uc003nht.3	+	7	1474	c.1341C>T	c.(1339-1341)ggC>ggT	p.G447G	BTN2A2_uc003nhs.3_Intron|BTN2A2_uc003nhq.3_Silent_p.G447G|BTN2A2_uc003nhr.3_Silent_p.G331G|BTN2A2_uc011dkh.2_Silent_p.G237G|BTN2A2_uc011dkg.2_3'UTR|BTN2A2_uc011dki.1_3'UTR	NM_001197237	NP_001184166	Q8WVV5	BT2A2_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A2 (BTN2A2), transcript variant 3, mRNA.	447	B30.2/SPRY.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GCCGGGTGGGCGTCTTCCTGG	0.537													T	26392964	C	T	26392964	2	4	4	1	0	0	0	0	0	0	0	1	1561	755	27	1		1	BTN2A2	6	26392964	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2714	26392964	144722103	1502	3567											
BTN3A3	10384	broad.mit.edu	37	chr6	26452025	26452025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctgagagatttgaatggCgttactgtgtccttggctgt	12	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:26452025C>T	uc003nhz.3	+	10	1384	c.1141C>T	c.(1141-1143)Cgt>Tgt	p.R381C	BTN3A3_uc011dkn.2_Missense_Mutation_p.R332C|BTN3A3_uc021ynh.1_Missense_Mutation_p.R171C	NM_006994	NP_008925	O00478	BT3A3_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), transcript variant 1, mRNA.	381	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						ATTTGAATGGCGTTACTGTGT	0.522													T	26452025	C	T	26452025	3	4	4	1	0	0	0	0	1	0	0	0	1564	768	27	1	1175	1	BTN3A3	6	26452025	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	59061	26452025	144663042	1503	3568											
ABT1	29777	broad.mit.edu	37	chr6	26597319	26597319	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaatccgaagaagcggccTgtggcagcaagaaacgggta	15	8	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:26597319T>C	uc003nii.3	+	0	149	c.109T>C	c.(109-111)Tgt>Cgt	p.C37R		NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN	Homo sapiens activator of basal transcription 1 (ABT1), mRNA.	37					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|RNA binding|nucleotide binding|protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						AGAAGCGGCCTGTGGCAGCAA	0.612													C	26597319	T	C	26597319	3	2	4	1	0	0	0	0	1	0	0	0	101	1580	55	3	111	3	ABT1	6	26597319	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	145294	26597319	144517748	1504	3569											
HIST1H2BN	8341	broad.mit.edu	37	chr6	27806762	27806762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgccaggggagctggCcaagcacgcggtgtcggagg	19	11	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:27806762C>T	uc003nju.1	+	0	384	c.323C>T	c.(322-324)gCc>gTc	p.A108V	HIST1H2AK_uc003njs.3_5'Flank|HIST1H2BN_uc003njt.1_Non-coding_Transcript|HIST1H2BN_uc003njv.3_Missense_Mutation_p.A108V	NM_003520	NP_003511	Q99877	H2B1N_HUMAN	Homo sapiens histone cluster 1, H2bn (HIST1H2BN), mRNA.	108					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						GGGGAGCTGGCCAAGCACGCG	0.677													T	27806762	C	T	27806762	3	4	4	1	0	0	0	0	1	0	0	0	7153	739	26	2	325	2	HIST1H2BN	6	27806762	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1209443	27806762	143308305	1505	3570											
ZNF193	7746	broad.mit.edu	37	chr6	28200861	28200861	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaagccacacaggggagCgacctcaccagtgcattgaa	12	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:28200861C>T	uc010jqz.2	+	4	1432	c.1243C>T	c.(1243-1245)Cga>Tga	p.R415*	ZNF193_uc003nkr.2_Nonsense_Mutation_p.R364*|ZNF193_uc003nkq.2_Nonsense_Mutation_p.R364*	NM_001199479	NP_001186408	O15535	ZN193_HUMAN	Homo sapiens zinc finger protein 193 (ZNF193), transcript variant 1, mRNA.	364					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|lung(5)|prostate(1)	8						CACAGGGGAGCGACCTCACCA	0.498													T	28200861	C	T	28200861	4	4	4	1	0	0	0	0	0	1	0	0	17754	760	27	1	1100	1	ZNF193	6	28200861	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	394099	28200861	142914206	1506	3571											
PGBD1	84547	broad.mit.edu	37	chr6	28251950	28251950	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaggcagtgacagtgctggaGaatctagagacaggaagtgg	17	5	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:28251950G>C	uc003nky.3	+	1	780	c.360G>C	c.(358-360)gaG>gaC	p.E120D	PGBD1_uc003nkz.3_Missense_Mutation_p.E120D	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	120	SCAN box.				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CAGTGCTGGAGAATCTAGAGA	0.517													C	28251950	G	C	28251950	3	2	4	1	0	0	0	0	1	0	0	0	11780	933	33	5	362	5	PGBD1	6	28251950	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	51089	28251950	142863117	1507	3572											
OR14J1	442191	broad.mit.edu	37	chr6	29274617	29274617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccatcattaccgtggacCgtcgtctccattcccccatg	6	17	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:29274617C>T	uc011dln.2	+	0	151	c.151C>T	c.(151-153)Cgt>Tgt	p.R51C		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TACCGTGGACCGTCGTCTCCA	0.468													T	29274617	C	T	29274617	3	4	4	1	0	0	0	0	1	0	0	0	10948	652	23	1	153	1	OR14J1	6	29274617	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1022667	29274617	141840450	1508	3573											
OR5V1	81696	broad.mit.edu	37	chr6	29323210	29323210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtacatatgtaaagatggCgctgccataaaagagaaaga	10	7	0	3	rs141436521	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:29323210C>T	uc011dlo.2	-	0	845	c.763G>A	c.(763-765)Gcc>Acc	p.A255T		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTAAAGATGGCGCTGCCATAA	0.453													T	29323210	C	T	29323210	3	4	4	1	0	0	0	0	1	0	0	0	11184	768	27	1	205	1	OR5V1	6	29323210	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	48593	29323210	141791857	1509	3574											
OR10C1	442194	broad.mit.edu	37	chr6	29408113	29408113	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcttcctcttctttggCgccacggagtgctgcctcct	8	15	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:29408113C>T	uc011dlp.2	+	0	398	c.321C>T	c.(319-321)ggC>ggT	p.G107G	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCTTCTTTGGCGCCACGGAGT	0.612													T	29408113	C	T	29408113	2	4	4	1	0	0	0	0	0	0	0	1	10898	755	27	1		1	OR10C1	6	29408113	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	84903	29408113	141706954	1510	3575											
OR2H1	26716	broad.mit.edu	37	chr6	29430238	29430238	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggattaactctgccacagCatggagaaaggcctttggga	13	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:29430238C>A	uc003nmi.3	+	2	1135	c.692C>A	c.(691-693)gCa>gAa	p.A231E	OR2H1_uc003nmj.1_Missense_Mutation_p.A231E|OR2H1_uc010jri.2_Missense_Mutation_p.A153E|OR2H1_uc021ytr.1_Missense_Mutation_p.A231E	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						TCTGCCACAGCATGGAGAAAG	0.542													A	29430238	C	A	29430238	3	1	4	1	0	0	0	0	1	0	0	0	11001	710	25	5	694	5	OR2H1	6	29430238	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	22125	29430238	141684829	1511	3576											
MAS1L	116511	broad.mit.edu	37	chr6	29455184	29455184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccgctctgtgctgatggCcaccaggagacagagacaca	11	13	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:29455184C>T	uc011dlq.2	-	0	496	c.496G>A	c.(496-498)Gcc>Acc	p.A166T		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	166						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GTGCTGATGGCCACCAGGAGA	0.507													T	29455184	C	T	29455184	3	4	4	1	0	0	0	0	1	0	0	0	9321	739	26	2	642	2	MAS1L	6	29455184	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	24946	29455184	141659883	1512	3577											
MOG	4340	broad.mit.edu	37	chr6	29638111	29638111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaccctgtttgtaattgtgCcggttcttggacccttggtt	10	9	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:29638111C>T	uc003nnf.3	+	5	875	c.646C>T	c.(646-648)Ccg>Tcg	p.P216S	MOG_uc003nmy.2_Missense_Mutation_p.P216S|MOG_uc003nna.3_Missense_Mutation_p.P100S|MOG_uc011dlt.2_Missense_Mutation_p.P146S|MOG_uc011dlv.2_Intron|MOG_uc011dlu.2_Intron|MOG_uc003nne.3_Missense_Mutation_p.P216S|MOG_uc003nng.3_Intron|MOG_uc003nni.3_Intron|MOG_uc003nnh.3_Intron|MOG_uc003nnj.3_Intron|MOG_uc003nnk.3_Intron	NM_206809	NP_996532	Q16653	MOG_HUMAN	Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.	216					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TGTAATTGTGCCGGTTCTTGG	0.507													T	29638111	C	T	29638111	3	4	4	1	0	0	0	0	1	0	0	0	9693	739	26	2	804	2	MOG	6	29638111	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	182927	29638111	141476956	1513	3578											
HLA-F	3134	broad.mit.edu	37	chr6	29692164	29692164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggacctacctggagggCgagtgcctggagttgctccg	15	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:29692164C>T	uc003nno.4	+	2	673	c.549C>T	c.(547-549)ggC>ggT	p.G183G	HLA-F_uc010jrl.3_Silent_p.G183G|HLA-F_uc003nnm.4_Silent_p.G183G|HLA-F_uc011dlx.1_Silent_p.G183G|HLA-F_uc011dly.1_Non-coding_Transcript	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.	183	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						ACCTGGAGGGCGAGTGCCTGG	0.612													T	29692164	C	T	29692164	2	4	4	1	0	0	0	0	0	0	0	1	7211	755	27	1		1	HLA-F	6	29692164	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	54053	29692164	141422903	1514	3579											
TRIM31	11074	broad.mit.edu	37	chr6	30080406	30080406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgattgcgttcttccttacGgaagttttgcagaggggaca	12	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:30080406G>A	uc003npg.1	-	1	287	c.177C>T	c.(175-177)tcC>tcT	p.S59S	TRIM31_uc003npi.3_Non-coding_Transcript	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	Homo sapiens tripartite motif containing 31 (TRIM31), mRNA.	59						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TCTTCCTTACGGAAGTTTTGC	0.473													A	30080406	G	A	30080406	2	1	4	1	0	0	0	0	0	0	0	1	16502	1103	39	1		1	TRIM31	6	30080406	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	388242	30080406	141034661	1515	3580											
PPP1R10	5514	broad.mit.edu	37	chr6	30569937	30569937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccagggccttcgtgggggCgatgtccaccaccggcaccc	14	17	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:30569937C>T	uc003nqn.1	-	18	3041	c.2489G>A	c.(2488-2490)cGc>cAc	p.R830H	PPP1R10_uc010jsc.1_Missense_Mutation_p.R484H	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	830	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TTCGTGGGGGCGATGTCCACC	0.677													T	30569937	C	T	30569937	3	4	4	1	0	0	0	0	1	0	0	0	12352	768	27	1	341	1	PPP1R10	6	30569937	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	489531	30569937	140545130	1516	3581											
PPP1R10	5514	broad.mit.edu	37	chr6	30571953	30571953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcatggctcagacgccgcGctgtctcaaatgcatgtcgg	11	12	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:30571953G>A	uc003nqn.1	-	13	1892	c.1340C>T	c.(1339-1341)gCg>gTg	p.A447V	PPP1R10_uc010jsc.1_Missense_Mutation_p.A101V	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	447	Essential for PPP1CA inhibition (By similarity).|Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CAGACGCCGCGCTGTCTCAAA	0.552													A	30571953	G	A	30571953	3	1	4	1	0	0	0	0	1	0	0	0	12352	1087	38	1	1510	1	PPP1R10	6	30571953	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2016	30571953	140543114	1517	3582											
DHX16	8449	broad.mit.edu	37	chr6	30624478	30624478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcccaggcggtatacaggCggaagcacttccctgcagcc	13	14	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:30624478C>T	uc003nqz.3	-	13	2419	c.2207G>A	c.(2206-2208)cGc>cAc	p.R736H	DHX16_uc003nqy.3_Missense_Mutation_p.R255H|DHX16_uc011dmo.2_Missense_Mutation_p.R676H	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	736	Helicase C-terminal.				RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						GGTATACAGGCGGAAGCACTT	0.592													T	30624478	C	T	30624478	3	4	4	1	0	0	0	0	1	0	0	0	4502	768	27	1	946	1	DHX16	6	30624478	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	52525	30624478	140490589	1518	3583											
DHX16	8449	broad.mit.edu	37	chr6	30633376	30633376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcttatatttgagctcctgCcgctcgtgccggctcagctc	10	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:30633376C>T	uc003nqz.3	-	4	1013	c.801G>A	c.(799-801)cgG>cgA	p.R267R	DHX16_uc011dmo.2_Silent_p.R207R	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	267					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						TGAGCTCCTGCCGCTCGTGCC	0.632													T	30633376	C	T	30633376	2	4	4	1	0	0	0	0	0	0	0	1	4502	726	26	2		2	DHX16	6	30633376	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	8898	30633376	140481691	1519	3584											
MDC1	9656	broad.mit.edu	37	chr6	30679846	30679846	+	Frame_Shift_Del	DEL	C	C	-													cacaggtggcccaccctgggCccccacctcatgagctctct							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:30679845_30679845GC>G	uc003nrg.4	-	4	2314	c.1874_1874GC>C	c.(1873-1875)gccfs	p.A625fs	MDC1_uc003nrf.4_Frame_Shift_Del_p.A279fs|MDC1_uc011dmp.1_Frame_Shift_Del_p.A497fs|MDC1_uc003nrh.1_Frame_Shift_Del_p.A497fs|MDC1_uc003nri.2_Frame_Shift_Del_p.A625fs	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	625					cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CCCACCCTGGGCCCCCACCTC	0.577								Other conserved DNA damage response genes					-	30679846	C	-	30679846	7	5	4	1	0	1	0	1	0	0	0	0	9403	739	26	0	4440	0	MDC1	6	30679846	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	46470	30679846	140435221	1520	3585											
DPCR1	135656	broad.mit.edu	37	chr6	30918709	30918709	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcatccccagcagagcctaCagaaaatagagaaaggacag	9	10	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:30918709C>A	uc003nsg.2	+	1	2468	c.2468C>A	c.(2467-2469)aCa>aAa	p.T823K		NM_080870	NP_543146	Q3MIW9	DPCR1_HUMAN	Homo sapiens diffuse panbronchiolitis critical region 1 (DPCR1), mRNA.	388						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GCAGAGCCTACAGAAAATAGA	0.488													A	30918709	C	A	30918709	3	1	4	1	0	0	0	0	1	0	0	0	4712	478	17	5	2474	5	DPCR1	6	30918709	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	238863	30918709	140196358	1521	3586											
PSORS1C1	170679	broad.mit.edu	37	chr6	31106442	31106442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggcccccaggcacacagaCcccagctttacaaggacccc	8	18	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:31106442C>T	uc003nsl.2	+	4	342	c.53C>T	c.(52-54)aCc>aTc	p.T18I	PSORS1C1_uc010jsj.2_Intron|PSORS1C1_uc003nsn.2_Intron|PSORS1C2_uc003nso.4_Intron	NM_014068	NP_054787	Q9UIG5	PS1C1_HUMAN	Homo sapiens psoriasis susceptibility 1 candidate 1 (PSORS1C1), mRNA.	18										kidney(1)|ovary(2)|prostate(1)|skin(1)	5						GGCACACAGACCCCAGCTTTA	0.577													T	31106442	C	T	31106442	3	4	4	1	0	0	0	0	1	0	0	0	12714	507	18	4	63	4	PSORS1C1	6	31106442	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	187733	31106442	140008625	1522	3587											
NFKBIL1	4795	broad.mit.edu	37	chr6	31525506	31525506	+	Frame_Shift_Del	DEL	C	C	-													gccaaattttgggctggggaCccccctgggattctgctgaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:31525505_31525505AC>A	uc003nub.3	+	2	554	c.435_435AC>A	c.(433-435)ggafs	p.G145fs	NFKBIL1_uc011dnr.2_Frame_Shift_Del_p.G122fs|NFKBIL1_uc011dns.2_Frame_Shift_Del_p.G122fs|NFKBIL1_uc011dnt.1_Non-coding_Transcript|NFKBIL1_uc003nuc.3_Frame_Shift_Del_p.G145fs	NM_005007	NP_001138434	Q9UBC1	IKBL1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 (NFKBIL1), transcript variant 1, mRNA.	145					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						TGGGCTGGGGACCCCCCTGGG	0.582													-	31525506	C	-	31525506	7	5	4	1	0	1	0	1	0	0	0	0	10381	507	18	0	446	0	NFKBIL1	6	31525506	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	419064	31525506	139589561	1523	3588											
LY6G6F	259215	broad.mit.edu	37	chr6	31675769	31675769	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagggtcccgtgaggggCcgtgttcagtccttctgggg	19	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:31675769C>T	uc003nwb.1	+	2	504	c.504C>T	c.(502-504)ggC>ggT	p.G168G	ABHD16A_uc011dnz.2_Intron|LY6G6F_uc003nwa.1_Silent_p.G168G	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA.	168						integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CCGTGAGGGGCCGTGTTCAGT	0.622													T	31675769	C	T	31675769	2	4	4	1	0	0	0	0	0	0	0	1	9096	726	26	2		2	LY6G6F	6	31675769	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	150263	31675769	139439298	1524	3589											
DDAH2	23564	broad.mit.edu	37	chr6	31695064	31695064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagggagctgagcccggCgccagccttctccagttctg	14	14	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:31695064C>T	uc003nwp.3	-	5	1439	c.808G>A	c.(808-810)Gcc>Acc	p.A270T	DDAH2_uc003nwq.3_Missense_Mutation_p.A270T	NM_013974	NP_039268	O95865	DDAH2_HUMAN	Homo sapiens dimethylarginine dimethylaminohydrolase 2 (DDAH2), mRNA.	270					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	CTGAGCCCGGCGCCAGCCTTC	0.617													T	31695064	C	T	31695064	3	4	4	1	0	0	0	0	1	0	0	0	4322	768	27	1	53	1	DDAH2	6	31695064	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	19295	31695064	139420003	1525	3590											
MSH5	4439	broad.mit.edu	37	chr6	31713064	31713064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctcagtgtacaaagtggCcagtggactgaaggaggggc	15	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:31713064C>T	uc003nwu.2	+	8	862	c.734C>T	c.(733-735)gCc>gTc	p.A245V	MSH5_uc003nwx.2_Missense_Mutation_p.A262V|MSH5_uc003nwv.2_Missense_Mutation_p.A245V|MSH5_uc003nww.2_Missense_Mutation_p.A245V|MSH5_uc011dof.1_Intron	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	245					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						TACAAAGTGGCCAGTGGACTG	0.483								Direct reversal of damage;Mismatch excision repair (MMR)					T	31713064	C	T	31713064	3	4	4	1	0	0	0	0	1	0	0	0	9873	739	26	2	815	2	MSH5	6	31713064	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	18000	31713064	139402003	1526	3591											
SLC44A4	80736	broad.mit.edu	37	chr6	31833122	31833122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgcatgagtagcatgaacGcatttttggctgagacacag	11	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:31833122G>A	uc010jti.3	-	16	1796	c.1730C>T	c.(1729-1731)gCg>gTg	p.A577V	NEU1_uc003nxq.4_5'Flank|SLC44A4_uc011dol.2_Missense_Mutation_p.A501V|SLC44A4_uc011dom.2_Missense_Mutation_p.A535V	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	577						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.A577A(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	TAGCATGAACGCATTTTTGGC	0.567													A	31833122	G	A	31833122	3	1	4	1	0	0	0	0	1	0	0	0	14638	1087	38	1	422	1	SLC44A4	6	31833122	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	120058	31833122	139281945	1527	3592											
SLC44A4	80736	broad.mit.edu	37	chr6	31846750	31846751	+	Frame_Shift_Ins	INS	-	-	C													atcctcgtcccgctgctttcINScccccatggctcagtctccg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:31846749_31846750T>TC	uc010jti.3	-	0	74_75	c.8_9A>GA	c.(7-9)ggafs	p.G3fs	SLC44A4_uc011dol.2_5'Flank|SLC44A4_uc011dom.2_Frame_Shift_Ins_p.G3fs	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	3						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CCCGCTGCTTTCCCCCCATGGC	0.688													C	31846751	-	C	31846750	7	5	4	1	0	1	1	0	0	0	0	0	14638	855	30	0	2208	0	SLC44A4	6	31846750	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	13628	31846750	139268317	1528	3593											
ZBTB12	221527	broad.mit.edu	37	chr6	31868726	31868726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactggctgagggcattccgGcatttctccaccacgtgctc	10	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:31868726G>A	uc003nyd.1	-	1	533	c.357C>T	c.(355-357)tgC>tgT	p.C119C	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|ZBTB12_uc021yva.1_Silent_p.C119C|CFB_uc011dop.2_5'Flank	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN	Homo sapiens zinc finger and BTB domain containing 12 (ZBTB12), mRNA.	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						GGGCATTCCGGCATTTCTCCA	0.567													A	31868726	G	A	31868726	2	1	4	1	0	0	0	0	0	0	0	1	17522	1195	42	2		2	ZBTB12	6	31868726	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	21976	31868726	139246341	1529	3594											
CFB	629	broad.mit.edu	37	chr6	31915615	31915615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgctgaggatgggcacgGcccaggtttgaagacagaga	16	8	0	4	rs145082719		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:31915615G>A	uc003nyj.4	+	4	1033	c.755G>A	c.(754-756)gGc>gAc	p.G252D	CFB_uc011dor.2_Missense_Mutation_p.G754D|CFB_uc003nyi.2_Missense_Mutation_p.G252D	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	252			G -> S (in dbSNP:rs4151651).		complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GATGGGCACGGCCCAGGTTTG	0.567													A	31915615	G	A	31915615	3	1	4	1	0	0	0	0	1	0	0	0	3278	1203	42	2	773	2	CFB	6	31915615	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	46889	31915615	139199452	1530	3595											
DOM3Z	1797	broad.mit.edu	37	chr6	31938887	31938887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttttgtcaggtgcccccGccacgtcactatggcctctg	10	15	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:31938887G>A	uc003nyp.1	-	2	727	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	Homo sapiens dom-3 homolog Z (C. elegans) (DOM3Z), mRNA.	132							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						AGGTGCCCCCGCCACGTCACT	0.597													A	31938887	G	A	31938887	3	1	4	1	0	0	0	0	1	0	0	0	4705	1086	38	1	816	1	DOM3Z	6	31938887	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	23272	31938887	139176180	1531	3596											
TNXB	7148	broad.mit.edu	37	chr6	32017064	32017064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacccgtgatgcccacggtgGacactgggcccacgcgctgc	13	17	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:32017064G>A	uc003nzl.2	-	27	9936	c.9734C>T	c.(9733-9735)tCc>tTc	p.S3245F	TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3292	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCCACGGTGGACACTGGGCC	0.647													A	32017064	G	A	32017064	3	1	4	1	0	0	0	0	1	0	0	0	16343	1174	41	4	5047	4	TNXB	6	32017064	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	78177	32017064	139098003	1532	3597											
TNXB	7148	broad.mit.edu	37	chr6	32020573	32020573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctcctcgcccctgacacGcaccacctggggccgcccgt	10	21	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:32020573G>A	uc003nzl.2	-	25	9185	c.8983C>T	c.(8983-8985)Cgt>Tgt	p.R2995C		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3042					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCCTGACACGCACCACCTGG	0.682													A	32020573	G	A	32020573	3	1	4	1	0	0	0	0	1	0	0	0	16343	1087	38	1	5806	1	TNXB	6	32020573	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3509	32020573	139094494	1533	3598											
TNXB	7148	broad.mit.edu	37	chr6	32041456	32041456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagacagggggcccatgCgttgcccatcatgtagtcca	11	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:32041456C>T	uc003nzl.2	-	11	4851	c.4649G>A	c.(4648-4650)cGc>cAc	p.R1550H		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1637					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGCCCATGCGTTGCCCATC	0.567													T	32041456	C	T	32041456	3	4	4	1	0	0	0	0	1	0	0	0	16343	768	27	1	10196	1	TNXB	6	32041456	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	20883	32041456	139073611	1534	3599											
TNXB	7148	broad.mit.edu	37	chr6	32052264	32052264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggacaaatttgtacttgCggccaggatccagggaggtg	14	8	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:32052264C>T	uc003nzl.2	-	7	3573	c.3371G>A	c.(3370-3372)cGc>cAc	p.R1124H		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1211	Fibronectin type-III 3.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TTTGTACTTGCGGCCAGGATC	0.587													T	32052264	C	T	32052264	3	4	4	1	0	0	0	0	1	0	0	0	16343	768	27	1	11490	1	TNXB	6	32052264	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	10808	32052264	139062803	1535	3600											
TNXB	7148	broad.mit.edu	37	chr6	32063527	32063527	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctctacacacacacactgGcctgcccggcacagttcccg	7	20	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:32063527G>A	uc003nzl.2	-	2	2305	c.2103C>T	c.(2101-2103)ggC>ggT	p.G701G		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	701	EGF-like 18.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACACACACTGGCCTGCCCGGC	0.682													A	32063527	G	A	32063527	2	1	4	1	0	0	0	0	0	0	0	1	16343	1190	42	2		2	TNXB	6	32063527	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	11263	32063527	139051540	1536	3601											
NOTCH4	4855	broad.mit.edu	37	chr6	32165126	32165126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcatgaaggggtgtgcGccctgcccggtctggctggt	17	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:32165126G>A	uc003obb.3	-	26	5141	c.5002C>T	c.(5002-5004)Cgc>Tgc	p.R1668C	GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_Missense_Mutation_p.R77C|NOTCH4_uc003oba.3_Missense_Mutation_p.R328C|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_Missense_Mutation_p.R77C	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1668					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGGGGTGTGCGCCCTGCCCGG	0.657													A	32165126	G	A	32165126	3	1	4	1	0	0	0	0	1	0	0	0	10551	1087	38	1	1025	1	NOTCH4	6	32165126	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	101599	32165126	138949941	1537	3602											
NOTCH4	4855	broad.mit.edu	37	chr6	32166736	32166736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctcgcctagtgggggcCggcgtcggtggggagctgac	19	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:32166736C>T	uc003obb.3	-	23	4641	c.4502G>A	c.(4501-4503)cGg>cAg	p.R1501Q	NOTCH4_uc011dpt.2_5'Flank|NOTCH4_uc003oba.3_Missense_Mutation_p.R164Q|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_5'Flank	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1501					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TAGTGGGGGCCGGCGTCGGTG	0.602													T	32166736	C	T	32166736	3	4	4	1	0	0	0	0	1	0	0	0	10551	652	23	1	1537	1	NOTCH4	6	32166736	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1610	32166736	138948331	1538	3603											
C6orf10	10665	broad.mit.edu	37	chr6	32261736	32261736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctattctgagaccttgcagtGcctccacattttagaatctg	7	11	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:32261736G>A	uc021yvt.1	-	22	887	c.714C>T	c.(712-714)ggC>ggT	p.G238G	C6orf10_uc011dpx.2_Silent_p.G229G|C6orf10_uc021yvs.1_Silent_p.G155G|C6orf10_uc011dpz.2_Silent_p.G236G|C6orf10_uc021yvu.1_Silent_p.G236G|C6orf10_uc021yvv.1_Silent_p.G222G	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	238						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ACCTTGCAGTGCCTCCACATT	0.368													A	32261736	G	A	32261736	2	1	4	1	0	0	0	0	0	0	0	1	2317	1306	46	2		2	C6orf10	6	32261736	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	95000	32261736	138853331	1539	3604											
BRD2	6046	broad.mit.edu	37	chr6	32944496	32944496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccccatcaagcccccacGcaaagacttgcctgactctc	6	19	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:32944496G>A	uc010juh.3	+	5	2287	c.983G>A	c.(982-984)cGc>cAc	p.R328H	BRD2_uc003ocn.4_Missense_Mutation_p.R328H|BRD2_uc003oco.3_Non-coding_Transcript|BRD2_uc003ocp.4_Missense_Mutation_p.R208H|BRD2_uc003ocq.4_Missense_Mutation_p.R328H|BRD2_uc021ywf.1_Missense_Mutation_p.R281H	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	328					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						AAGCCCCCACGCAAAGACTTG	0.522													A	32944496	G	A	32944496	3	1	4	1	0	0	0	0	1	0	0	0	1502	1087	38	1	1005	1	BRD2	6	32944496	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	682760	32944496	138170571	1540	3605											
COL11A2	1302	broad.mit.edu	37	chr6	33138611	33138611	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccaatgggtcctgggggCccattgaatcctcttgttcc	12	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:33138611C>T	uc003ocx.1	-	45	3678	c.3450G>A	c.(3448-3450)ggG>ggA	p.G1150G	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.G1064G|COL11A2_uc003ocz.1_Silent_p.G1043G	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1150	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GTCCTGGGGGCCCATTGAATC	0.607													T	33138611	C	T	33138611	2	4	4	1	0	0	0	0	0	0	0	1	3668	726	26	2		2	COL11A2	6	33138611	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	194115	33138611	137976456	1541	3606											
VPS52	6293	broad.mit.edu	37	chr6	33236902	33236902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgactgttcctgcagtGtccggatctcagagctgatg	11	12	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:33236902G>A	uc003odm.1	-	5	647	c.437C>T	c.(436-438)aCa>aTa	p.T146I	VPS52_uc003odn.1_Missense_Mutation_p.T21I|VPS52_uc003odo.1_Missense_Mutation_p.T71I|VPS52_uc011dqy.1_Missense_Mutation_p.T21I|VPS52_uc011dqz.1_Missense_Mutation_p.T21I|RPS18_uc003odp.1_5'Flank|RPS18_uc010jum.1_5'Flank	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	146					protein transport	Golgi apparatus|endosome membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTCCTGCAGTGTCCGGATCTC	0.542													A	33236902	G	A	33236902	3	1	4	1	0	0	0	0	1	0	0	0	17211	1377	48	4	1794	4	VPS52	6	33236902	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	98291	33236902	137878165	1542	3607											
TAPBP	6892	broad.mit.edu	37	chr6	33273060	33273060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccggagccagagatgaggCggcctcggaggtggggggca	20	10	0	2	rs146216992		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:33273060C>T	uc003odx.2	-	3	920	c.574G>A	c.(574-576)Gcc>Acc	p.A192T	TAPBP_uc010jut.2_Missense_Mutation_p.A105T|TAPBP_uc003odz.3_Missense_Mutation_p.A192T|TAPBP_uc003ody.3_Missense_Mutation_p.A192T|TAPBP_uc011drc.2_Missense_Mutation_p.A192T	NM_003190	NP_003181	O15533	TPSN_HUMAN	Homo sapiens TAP binding protein (tapasin) (TAPBP), transcript variant 1, mRNA.	192					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|TAP1 binding|TAP2 binding|peptide antigen binding|peptide antigen-transporting ATPase activity|unfolded protein binding	p.A192V(1)		endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						AGAGATGAGGCGGCCTCGGAG	0.632													T	33273060	C	T	33273060	3	4	4	1	0	0	0	0	1	0	0	0	15549	768	27	1	972	1	TAPBP	6	33273060	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	36158	33273060	137842007	1543	3608											
DAXX	1616	broad.mit.edu	37	chr6	33287520	33287520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaacgatggtgacactatgCgtcctttgttttgctgctcc	10	10	0	1	rs141395832	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:33287520C>T	uc003oec.3	-	5	1781	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|ZBTB22_uc021ywm.1_5'Flank|DAXX_uc021ywn.1_Missense_Mutation_p.R526H|DAXX_uc021ywo.1_Missense_Mutation_p.R526H|DAXX_uc011dre.2_Missense_Mutation_p.R538H|DAXX_uc003oed.3_Missense_Mutation_p.R526H|DAXX_uc011drd.2_Missense_Mutation_p.R451H	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	526	Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGACACTATGCGTCCTTTGTT	0.517			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								T	33287520	C	T	33287520	3	4	4	1	0	0	0	0	1	0	0	0	4243	768	27	1	657	1	DAXX	6	33287520	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	14460	33287520	137827547	1544	3609											
DAXX	1616	broad.mit.edu	37	chr6	33288785	33288785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgccacggtaggggatgCgctgctctatgacacggccg	17	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:33288785C>T	uc003oec.3	-	2	971	c.767G>A	c.(766-768)cGc>cAc	p.R256H	DAXX_uc021ywn.1_Missense_Mutation_p.R256H|DAXX_uc021ywo.1_Missense_Mutation_p.R256H|DAXX_uc011dre.2_Missense_Mutation_p.R268H|DAXX_uc003oed.3_Missense_Mutation_p.R256H|DAXX_uc011drd.2_Missense_Mutation_p.R181H|DAXX_uc010juw.2_Missense_Mutation_p.R181H	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	256					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GTAGGGGATGCGCTGCTCTAT	0.582			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								T	33288785	C	T	33288785	3	4	4	1	0	0	0	0	1	0	0	0	4243	768	27	1	1479	1	DAXX	6	33288785	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1265	33288785	137826282	1545	3610											
PHF1	5252	broad.mit.edu	37	chr6	33380151	33380151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgggagggtcaagatgtGctggccagatggactgatgg	17	6	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:33380151G>A	uc003oeh.3	+	1	347	c.111G>A	c.(109-111)gtG>gtA	p.V37V	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Silent_p.V37V|PHF1_uc010jux.3_5'UTR	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	37					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GTCAAGATGTGCTGGCCAGAT	0.567													A	33380151	G	A	33380151	2	1	4	1	0	0	0	0	0	0	0	1	11820	1306	46	2		2	PHF1	6	33380151	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	91366	33380151	137734916	1546	3611											
CUTA	51596	broad.mit.edu	37	chr6	33385291	33385291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgaccttctcgttggggCaagtaacaaaggctgcagag	14	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:33385291C>T	uc003oej.1	-	1	512	c.224G>A	c.(223-225)tGc>tAc	p.C75Y	CUTA_uc003oen.1_Missense_Mutation_p.C94Y|CUTA_uc003oem.1_Missense_Mutation_p.C52Y|CUTA_uc003oek.1_Missense_Mutation_p.C52Y|CUTA_uc003oel.1_Missense_Mutation_p.C52Y|SYNGAP1_uc003oeo.1_5'Flank|SYNGAP1_uc011dri.2_5'Flank|SYNGAP1_uc010juy.3_5'Flank	NM_001014840	NP_057005	O60888	CUTA_HUMAN	Homo sapiens cutA divalent cation tolerance homolog (E. coli) (CUTA), transcript variant 5, mRNA.	75					protein localization|response to metal ion	membrane	enzyme binding		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						CTCGTTGGGGCAAGTAACAAA	0.622													T	33385291	C	T	33385291	3	4	4	1	0	0	0	0	1	0	0	0	4062	710	25	2	335	2	CUTA	6	33385291	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	5140	33385291	137729776	1547	3612											
SYNGAP1	8831	broad.mit.edu	37	chr6	33403339	33403339	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcctgtcggtctgcggcCgaaagagacaaatggattga	13	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:33403339C>T	uc011dri.2	+	6	906	c.711C>T	c.(709-711)gcC>gcT	p.A237A	SYNGAP1_uc003oeo.1_Silent_p.A222A|SYNGAP1_uc010juy.3_Silent_p.A222A|SYNGAP1_uc010juz.3_5'Flank	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	237	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GGTCTGCGGCCGAAAGAGACA	0.512													T	33403339	C	T	33403339	2	4	4	1	0	0	0	0	0	0	0	1	15444	639	23	1		1	SYNGAP1	6	33403339	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	18048	33403339	137711728	1548	3613											
ITPR3	3710	broad.mit.edu	37	chr6	33638955	33638955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgcaggtggtcagcctggCgcacaatctcatctacttcg	10	13	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:33638955C>T	uc021ywr.1	+	20	2824	c.2600C>T	c.(2599-2601)gCg>gTg	p.A867V		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	867					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GTCAGCCTGGCGCACAATCTC	0.682													T	33638955	C	T	33638955	3	4	4	1	0	0	0	0	1	0	0	0	7922	768	27	1	2682	1	ITPR3	6	33638955	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	235616	33638955	137476112	1549	3614											
ITPR3	3710	broad.mit.edu	37	chr6	33646527	33646527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgctggccacgcacgggCgccatgtgcagtacctggac	13	15	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:33646527C>T	uc021ywr.1	+	29	4107	c.3883C>T	c.(3883-3885)Cgc>Tgc	p.R1295C		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1295					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CACGCACGGGCGCCATGTGCA	0.577													T	33646527	C	T	33646527	3	4	4	1	0	0	0	0	1	0	0	0	7922	768	27	1	4001	1	ITPR3	6	33646527	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	7572	33646527	137468540	1550	3615											
ITPR3	3710	broad.mit.edu	37	chr6	33661334	33661334	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accctcaggtctggagagggAcaagtttgataacaagacag	12	8	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:33661334A>G	uc021ywr.1	+	55	7861	c.7637A>G	c.(7636-7638)gAc>gGc	p.D2546G		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	2546					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTGGAGAGGGACAAGTTTGAT	0.537													G	33661334	A	G	33661334	3	3	4	1	0	0	0	0	1	0	0	0	7922	275	10	3	7859	3	ITPR3	6	33661334	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	14807	33661334	137453733	1551	3616											
ANKS1A	23294	broad.mit.edu	37	chr6	34949512	34949512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtgcagcgcagtatggcCacacagaggtggtgaaggtg	16	7	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:34949512C>T	uc003ojx.4	+	3	623	c.481C>T	c.(481-483)Cac>Tac	p.H161Y	ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR|ANKS1A_uc010jvr.1_Non-coding_Transcript	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	161						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCAGTATGGCCACACAGAGGT	0.547													T	34949512	C	T	34949512	3	4	4	1	0	0	0	0	1	0	0	0	688	594	21	4	495	4	ANKS1A	6	34949512	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1288178	34949512	136165555	1552	3617											
ANKS1A	23294	broad.mit.edu	37	chr6	35053698	35053698	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcctaagcctcgggtcggCgtgaggaaatccgcagtacg	15	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:35053698C>T	uc003ojx.4	+	21	3430	c.3288C>T	c.(3286-3288)ggC>ggT	p.G1096G	ANKS1A_uc011dst.2_Silent_p.G637G|ANKS1A_uc010jvp.2_Silent_p.G470G	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	1096						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTCGGGTCGGCGTGAGGAAAT	0.622													T	35053698	C	T	35053698	2	4	4	1	0	0	0	0	0	0	0	1	688	755	27	1		1	ANKS1A	6	35053698	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	104186	35053698	136061369	1553	3618											
TCP11	6954	broad.mit.edu	37	chr6	35090014	35090014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagatagaggactttcaggGccccatgttctgcctcctgc	11	12	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:35090014G>A	uc003okd.2	-	4	678	c.497C>T	c.(496-498)gCc>gTc	p.A166V	TCP11_uc003ojz.1_Missense_Mutation_p.A91V|TCP11_uc003oka.2_Missense_Mutation_p.A91V|TCP11_uc003okb.2_Missense_Mutation_p.A90V|TCP11_uc011dsu.1_Missense_Mutation_p.A148V|TCP11_uc003okc.2_Missense_Mutation_p.A90V|TCP11_uc011dsv.1_Missense_Mutation_p.A115V|TCP11_uc011dsw.1_Missense_Mutation_p.A120V	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	153					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						GACTTTCAGGGCCCCATGTTC	0.473													A	35090014	G	A	35090014	3	1	4	1	0	0	0	0	1	0	0	0	15710	1203	42	2	1077	2	TCP11	6	35090014	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	36316	35090014	136025053	1554	3619											
FANCE	2178	broad.mit.edu	37	chr6	35423937	35423937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggtccccaaaagattacGgtgttgggaagaggaagaag	16	5	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:35423937G>A	uc003oko.1	+	1	847	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	FANCE_uc010jvw.1_Missense_Mutation_p.R221Q	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Homo sapiens Fanconi anemia, complementation group E (FANCE), mRNA.	221	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						AAAAGATTACGGTGTTGGGAA	0.532			"N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	35423937	G	A	35423937	3	1	4	1	0	0	0	0	1	0	0	0	5666	1116	39	1	668	1	FANCE	6	35423937	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	333923	35423937	135691130	1555	3620											
LHFPL5	222662	broad.mit.edu	37	chr6	35773525	35773525	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaactcgcgagccgtgggCgtgatgtggggtaccctcac	16	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:35773525C>T	uc003olg.1	+	0	455	c.78C>T	c.(76-78)ggC>ggT	p.G26G		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 5 (LHFPL5), mRNA.	26						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GAGCCGTGGGCGTGATGTGGG	0.617													T	35773525	C	T	35773525	2	4	4	1	0	0	0	0	0	0	0	1	8768	755	27	1		1	LHFPL5	6	35773525	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	349588	35773525	135341542	1556	3621											
LHFPL5	222662	broad.mit.edu	37	chr6	35773571	35773571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttctccgtactggtcatgGccctcttcatccagccctac	7	17	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:35773571G>A	uc003olg.1	+	0	501	c.124G>A	c.(124-126)Gcc>Acc	p.A42T		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 5 (LHFPL5), mRNA.	42						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						ACTGGTCATGGCCCTCTTCAT	0.592													A	35773571	G	A	35773571	3	1	4	1	0	0	0	0	1	0	0	0	8768	1203	42	2	126	2	LHFPL5	6	35773571	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	46	35773571	135341496	1557	3622											
MAPK14	1432	broad.mit.edu	37	chr6	36020576	36020576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaacctacagagaactgCggttacttaaacatatgaaa	7	7	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:36020576C>T	uc003olq.3	+	1	698	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W	MAPK14_uc011dth.2_Missense_Mutation_p.R73W|MAPK14_uc003olo.3_Missense_Mutation_p.R73W|MAPK14_uc003olp.3_Missense_Mutation_p.R73W|MAPK14_uc003olr.3_Missense_Mutation_p.R73W|MAPK14_uc011dti.2_5'UTR	NM_139012	NP_620581	Q16539	MK14_HUMAN	Homo sapiens mitogen-activated protein kinase 14 (MAPK14), transcript variant 2, mRNA.	73	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						CAGAGAACTGCGGTTACTTAA	0.373													T	36020576	C	T	36020576	3	4	4	1	0	0	0	0	1	0	0	0	9276	759	27	1	223	1	MAPK14	6	36020576	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	247005	36020576	135094491	1558	3623											
BRPF3	27154	broad.mit.edu	37	chr6	36168834	36168834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacaccaggagtgctatggCgtcccatacatccctgaggg	12	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:36168834C>T	uc003olv.4	+	1	959	c.735C>T	c.(733-735)ggC>ggT	p.G245G	BRPF3_uc010jwb.3_Silent_p.G245G|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Silent_p.G245G	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	245					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						AGTGCTATGGCGTCCCATACA	0.552													T	36168834	C	T	36168834	2	4	4	1	0	0	0	0	0	0	0	1	1521	755	27	1		1	BRPF3	6	36168834	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	148258	36168834	134946233	1559	3624											
BRPF3	27154	broad.mit.edu	37	chr6	36181729	36181729	+	Frame_Shift_Del	DEL	C	C	-													ttccttgtctgagcaagaatCccccccggagccccctactc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:36181728_36181728TC>T	uc003olv.4	+	7	2778	c.2554_2554TC>T	c.(2554-2556)tccfs	p.S852fs	BRPF3_uc010jwb.3_Intron|BRPF3_uc011dtj.2_Intron|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Intron	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	852					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TGAGCAAGAATCCCCCCCGGA	0.502													-	36181729	C	-	36181729	7	5	4	1	0	1	0	1	0	0	0	0	1521	855	30	0	2581	0	BRPF3	6	36181729	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	12895	36181729	134933338	1560	3625											
MTCH1	23787	broad.mit.edu	37	chr6	36938207	36938207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgttcacagccatgaggtCgccaactagcaggaaggggt	14	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:36938207C>T	uc003one.4	-	9	997	c.997G>A	c.(997-999)Gac>Aac	p.D333N	MTCH1_uc003onc.1_Missense_Mutation_p.D316N|MTCH1_uc010jwo.1_Non-coding_Transcript|MTCH1_uc003ond.1_Missense_Mutation_p.D333N|MTCH1_uc011dtt.2_Missense_Mutation_p.D148N	NM_014341	NP_055156	Q9NZJ7	MTCH1_HUMAN	Homo sapiens mitochondrial carrier 1 (MTCH1), nuclear gene encoding mitochondrial protein, mRNA.	333					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GCCATGAGGTCGCCAACTAGC	0.622													T	36938207	C	T	36938207	3	4	4	1	0	0	0	0	1	0	0	0	9913	884	31	1	184	1	MTCH1	6	36938207	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	756478	36938207	134176860	1561	3626											
FGD2	221472	broad.mit.edu	37	chr6	36993700	36993700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccaaggaggacaagaggCggggcatcctggaggtgagg	20	7	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:36993700C>T	uc010jwp.1	+	13	1762	c.1591C>T	c.(1591-1593)Cgg>Tgg	p.R531W	FGD2_uc003ong.2_Missense_Mutation_p.R253W|FGD2_uc011dtv.1_Missense_Mutation_p.R159W|FGD2_uc003onj.1_Missense_Mutation_p.R108W	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	531					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GGACAAGAGGCGGGGCATCCT	0.607													T	36993700	C	T	36993700	3	4	4	1	0	0	0	0	1	0	0	0	5833	759	27	1	1645	1	FGD2	6	36993700	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	55493	36993700	134121367	1562	3627											
FTSJD2	23070	broad.mit.edu	37	chr6	37430612	37430612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcttctgccaggtatgtgGtgtgcaagggcctgaaggtg	15	7	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:37430612G>A	uc003ons.3	+	12	1586	c.1333G>A	c.(1333-1335)Gtg>Atg	p.V445M		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	445					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						CAGGTATGTGGTGTGCAAGGG	0.498													A	37430612	G	A	37430612	3	1	4	1	0	0	0	0	1	0	0	0	6091	1261	44	4	1379	4	FTSJD2	6	37430612	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	436912	37430612	133684455	1563	3628											
MDGA1	266727	broad.mit.edu	37	chr6	37622633	37622633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggatgccgcacacgttacGcacagacacctggcaggtgt	13	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:37622633G>A	uc003onu.1	-	4	1834	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	MDGA1_uc003onw.3_5'Flank	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	219	Ig-like 2.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CACACGTTACGCACAGACACC	0.602													A	37622633	G	A	37622633	3	1	4	1	0	0	0	0	1	0	0	0	9406	1087	38	1	2264	1	MDGA1	6	37622633	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	192021	37622633	133492434	1564	3629											
ZFAND3	60685	broad.mit.edu	37	chr6	38120051	38120051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgcctccccgagcagcaCgactgcacattcgaccacat	7	18	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:38120051C>T	uc003onx.3	+	5	985	c.570C>T	c.(568-570)caC>caT	p.H190H		NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN	Homo sapiens zinc finger, AN1-type domain 3 (ZFAND3), mRNA.	190							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						CCGAGCAGCACGACTGCACAT	0.597													T	38120051	C	T	38120051	2	4	4	1	0	0	0	0	0	0	0	1	17626	535	19	1		1	ZFAND3	6	38120051	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	497418	38120051	132995016	1565	3630											
DNAH8	1769	broad.mit.edu	37	chr6	38781840	38781840	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattgcagcctttatgggCgaaagcagtcagaagatatt	10	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:38781840C>T	uc021yzh.1	+	24	3377	c.3268C>T	c.(3268-3270)Cga>Tga	p.R1090*	DNAH8_uc003ooe.2_Nonsense_Mutation_p.R873*	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.E1089Q(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTTTATGGGCGAAAGCAGTC	0.308													T	38781840	C	T	38781840	4	4	4	1	0	0	0	0	0	1	0	0	4607	760	27	1	2699	1	DNAH8	6	38781840	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	661789	38781840	132333227	1566	3631											
DNAH8	1769	broad.mit.edu	37	chr6	38816440	38816440	+	Frame_Shift_Del	DEL	A	A	-													ttagatacaatgctccatttAaaaaaaatatccagaattgg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:38816439_38816439TA>T	uc021yzh.1	+	36	5170	c.5061_5061TA>T	c.(5059-5061)tttfs	p.F1687fs	DNAH8_uc003ooe.2_Frame_Shift_Del_p.F1470fs	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGCTCCATTTAAAAAAAATA	0.343													-	38816440	A	-	38816440	7	5	4	1	0	1	0	1	0	0	0	0	4607	363	13	0	4541	0	DNAH8	6	38816440	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	34600	38816440	132298627	1567	3632											
DNAH8	1769	broad.mit.edu	37	chr6	38840404	38840404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcacgattctaatgaaggcGcaaacagaatgcggaaggcc	11	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:38840404G>A	uc021yzh.1	+	49	7192	c.7083G>A	c.(7081-7083)gcG>gcA	p.A2361A	DNAH8_uc003ooe.2_Silent_p.A2144A	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TAATGAAGGCGCAAACAGAAT	0.463													A	38840404	G	A	38840404	2	1	4	1	0	0	0	0	0	0	0	1	4607	1074	38	1		1	DNAH8	6	38840404	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	23964	38840404	132274663	1568	3633											
DNAH8	1769	broad.mit.edu	37	chr6	38840416	38840416	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaaggcgcaaacagaatgCggaaggcctcatagagaaat	12	7	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:38840416C>T	uc021yzh.1	+	49	7204	c.7095C>T	c.(7093-7095)tgC>tgT	p.C2365C	DNAH8_uc003ooe.2_Silent_p.C2148C	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAACAGAATGCGGAAGGCCTC	0.483													T	38840416	C	T	38840416	2	4	4	1	0	0	0	0	0	0	0	1	4607	776	27	1		1	DNAH8	6	38840416	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	12	38840416	132274651	1569	3634											
DAAM2	23500	broad.mit.edu	37	chr6	39847178	39847178	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccctaccccagcagtgaCgtcccactcaggaaaaagcg	9	16	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:39847178C>T	uc003oow.3	+	13	1909	c.1770C>T	c.(1768-1770)gaC>gaT	p.D590D	DAAM2_uc010jxc.3_Silent_p.D590D|DAAM2_uc003oox.3_Silent_p.D590D	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	590	FH1.|Pro-rich.				actin cytoskeleton organization		Rho GTPase binding|actin binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCAGCAGTGACGTCCCACTCA	0.652													T	39847178	C	T	39847178	2	4	4	1	0	0	0	0	0	0	0	1	4216	535	19	1		1	DAAM2	6	39847178	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1006762	39847178	131267889	1570	3635											
LRFN2	57497	broad.mit.edu	37	chr6	40400194	40400194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaagccgaagcctgggagCgggcaaagatgggatcaggg	17	8	2	1	rs140980612		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:40400194C>T	uc003oph.1	-	1	1124	c.659G>A	c.(658-660)cGc>cAc	p.R220H		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	220						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCCTGGGAGCGGGCAAAGAT	0.587													T	40400194	C	T	40400194	3	4	4	1	0	0	0	0	1	0	0	0	8938	768	27	1	1718	1	LRFN2	6	40400194	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	553016	40400194	130714873	1571	3636											
UNC5CL	222643	broad.mit.edu	37	chr6	41002811	41002811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgaactctcctgggggcaCattcgcctggttactcaatg	10	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:41002811C>T	uc003opi.3	-	1	102	c.3G>A	c.(1-3)atG>atA	p.M1I	UNC5CL_uc010jxe.1_Missense_Mutation_p.M1I	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	1					signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGGGGGCACATTCGCCTGG	0.602													T	41002811	C	T	41002811	3	4	4	1	0	0	0	0	1	0	0	0	16991	478	17	4	1585	4	UNC5CL	6	41002811	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	602617	41002811	130112256	1572	3637											
TFEB	7942	broad.mit.edu	37	chr6	41654874	41654874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattcccaactccttgatgCggtcattgatgttgaacctt	8	11	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:41654874C>T	uc021yzl.1	-	5	963	c.962G>A	c.(961-963)cGc>cAc	p.R321H	TFEB_uc003oqs.1_Missense_Mutation_p.R254H|TFEB_uc003oqt.1_Missense_Mutation_p.R254H|TFEB_uc003oqu.1_Missense_Mutation_p.R254H|TFEB_uc003oqv.1_Missense_Mutation_p.R254H|TFEB_uc003oqr.1_Missense_Mutation_p.R169H	NM_007162	NP_009093	P19484	TFEB_HUMAN	Homo sapiens transcription factor EB (TFEB), transcript variant 1, mRNA.	254					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CTCCTTGATGCGGTCATTGAT	0.537			T	ALPHA	renal (childhood epithelioid)								T	41654874	C	T	41654874	3	4	4	1	0	0	0	0	1	0	0	0	15798	768	27	1	681	1	TFEB	6	41654874	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	652063	41654874	129460193	1573	3638											
PGC	5225	broad.mit.edu	37	chr6	41710065	41710065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagacggggctggtgagggCgccctcctgcaccatgccct	15	14	0	2	rs143935750	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:41710065C>T	uc003ora.2	-	4	677	c.610G>A	c.(610-612)Gcc>Acc	p.A204T	PGC_uc021yzm.1_Missense_Mutation_p.A204T	NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	204					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	p.A204A(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CTGGTGAGGGCGCCCTCCTGC	0.652													T	41710065	C	T	41710065	3	4	4	1	0	0	0	0	1	0	0	0	11785	768	27	1	885	1	PGC	6	41710065	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	55191	41710065	129405002	1574	3639											
PGC	5225	broad.mit.edu	37	chr6	41711128	41711128	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgaagcgggagtgactggCtgcaggggagtcagggcatg	20	6	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:41711128C>T	uc003ora.2	-	4	396	c.329_splice	c.e4-1	p.T110_splice	PGC_uc021yzm.1_Splice_Site_p.T110_splice	NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	110					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GAGTGACTGGCTGCAGGGGAG	0.662													T	41711128	C	T	41711128	5	4	4	1	0	0	0	0	0	0	1	0	11785	811	28	2	1171	2	PGC	6	41711128	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1063	41711128	129403939	1575	3640											
USP49	25862	broad.mit.edu	37	chr6	41773964	41773964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccaggttgcgcaggcccGtgacgcctggggccatggcc	16	15	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:41773964G>A	uc003ori.3	-	3	980	c.758C>T	c.(757-759)aCg>aTg	p.T253M		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	253					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.T253T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCGCAGGCCCGTGACGCCTGG	0.672													A	41773964	G	A	41773964	3	1	4	1	0	0	0	0	1	0	0	0	17077	1145	40	1	1180	1	USP49	6	41773964	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	62836	41773964	129341103	1576	3641											
MED20	9477	broad.mit.edu	37	chr6	41884626	41884626	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaatttccgggtaaggagCtctacggtttgctgaacact	10	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:41884626C>T	uc003ork.3	-	1	187	c.66G>A	c.(64-66)gaG>gaA	p.E22E	MED20_uc003orj.3_5'UTR|MED20_uc011duh.2_Silent_p.E22E|MED20_uc011dui.2_Non-coding_Transcript|MED20_uc011duj.2_Intron	NM_004275	NP_004266	Q9H944	MED20_HUMAN	Homo sapiens mediator complex subunit 20 (MED20), mRNA.	22					regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGGTAAGGAGCTCTACGGTTT	0.542													T	41884626	C	T	41884626	2	4	4	1	0	0	0	0	0	0	0	1	9438	796	28	2		2	MED20	6	41884626	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	110662	41884626	129230441	1577	3642											
CCND3	896	broad.mit.edu	37	chr6	41904988	41904988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacctgtagcacagagggCcaaaaaggtctgggcatgct	12	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:41904988C>T	uc003orn.3	-	2	724	c.559G>A	c.(559-561)Gcc>Acc	p.A187T	CCND3_uc003orp.3_Missense_Mutation_p.A106T|CCND3_uc011duk.2_5'UTR|CCND3_uc011dum.1_Missense_Mutation_p.A106T|CCND3_uc003orm.3_Missense_Mutation_p.A137T|CCND3_uc003oro.3_Missense_Mutation_p.A115T|CCND3_uc011dul.1_Missense_Mutation_p.A115T	NM_001760	NP_001129489	P30281	CCND3_HUMAN	Homo sapiens cyclin D3 (CCND3), transcript variant 2, mRNA.	187					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCACAGAGGGCCAAAAAGGTC	0.473			T	IGH@	MM								T	41904988	C	T	41904988	3	4	4	1	0	0	0	0	1	0	0	0	2918	739	26	2	331	2	CCND3	6	41904988	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	20362	41904988	129210079	1578	3643											
TRERF1	55809	broad.mit.edu	37	chr6	42227309	42227309	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctctggtacagggtggcGcccgagtaggaggcagcggg	20	9	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:42227309G>A	uc003ose.2	-	8	2660	c.2097C>T	c.(2095-2097)ggC>ggT	p.G699G	TRERF1_uc011duq.1_Silent_p.G596G|TRERF1_uc003osb.2_Silent_p.G435G|TRERF1_uc003osc.2_Silent_p.G435G|TRERF1_uc003osd.2_Silent_p.G679G	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	679	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACAGGGTGGCGCCCGAGTAGG	0.692													A	42227309	G	A	42227309	2	1	4	1	0	0	0	0	0	0	0	1	16472	1074	38	1		1	TRERF1	6	42227309	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	322321	42227309	128887758	1579	3644											
KIAA0240	23506	broad.mit.edu	37	chr6	42796383	42796383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgaggaccaacctttcgaCattcttcagaaatccttgca	6	12	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:42796383C>T	uc003osn.1	+	5	463	c.312C>T	c.(310-312)gaC>gaT	p.D104D	KIAA0240_uc003osm.1_Silent_p.D104D|KIAA0240_uc011duw.1_Silent_p.D104D|KIAA0240_uc003oso.1_Silent_p.D104D|KIAA0240_uc003osp.1_Silent_p.D104D	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	104										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			AACCTTTCGACATTCTTCAGA	0.468													T	42796383	C	T	42796383	2	4	4	1	0	0	0	0	0	0	0	1	8164	477	17	4		4	KIAA0240	6	42796383	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	569074	42796383	128318684	1580	3645											
KLC4	89953	broad.mit.edu	37	chr6	43034106	43034106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagatcccagcaaggttgCggacgttgcacaacctggtg	13	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:43034106C>T	uc003otw.1	+	4	1007	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	KLC4_uc003otr.1_Non-coding_Transcript|KLC4_uc003otu.3_Missense_Mutation_p.R212W|KLC4_uc003otv.1_Missense_Mutation_p.R212W|KLC4_uc011dvd.1_Missense_Mutation_p.R135W|KLC4_uc003otx.1_Missense_Mutation_p.R212W|KLC4_uc003oty.1_Missense_Mutation_p.R212W|KLC4_uc003otz.1_Missense_Mutation_p.R212W	NM_201523	NP_958930	Q9NSK0	KLC4_HUMAN	Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA.	212						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			AGCAAGGTTGCGGACGTTGCA	0.552													T	43034106	C	T	43034106	3	4	4	1	0	0	0	0	1	0	0	0	8336	759	27	1	706	1	KLC4	6	43034106	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	237723	43034106	128080961	1581	3646											
ABCC10	89845	broad.mit.edu	37	chr6	43406513	43406513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggtgctagaagcctgcGccctcaatgatgacctcagt	12	11	2	3	rs140043327		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:43406513G>A	uc003ouy.1	+	7	2322	c.2107G>A	c.(2107-2109)Gcc>Acc	p.A703T	ABCC10_uc003ouz.1_Missense_Mutation_p.A675T|ABCC10_uc010jyo.1_5'UTR	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	703	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGAAGCCTGCGCCCTCAATGA	0.527													A	43406513	G	A	43406513	3	1	4	1	0	0	0	0	1	0	0	0	50	1087	38	1	2045	1	ABCC10	6	43406513	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	372407	43406513	127708554	1582	3647											
ABCC10	89845	broad.mit.edu	37	chr6	43414079	43414079	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagtttgccaccagtgccAcaatgcagtggctggacatt	11	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:43414079A>G	uc003ouy.1	+	15	3654	c.3439A>G	c.(3439-3441)Aca>Gca	p.T1147A	ABCC10_uc003ouz.1_Missense_Mutation_p.T1119A|ABCC10_uc010jyo.1_Missense_Mutation_p.T253A	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1147	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CACCAGTGCCACAATGCAGTG	0.597													G	43414079	A	G	43414079	3	3	4	1	0	0	0	0	1	0	0	0	50	159	6	3	3409	3	ABCC10	6	43414079	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	7566	43414079	127700988	1583	3648											
RSPH9	221421	broad.mit.edu	37	chr6	43638573	43638573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaatgccctggtggtgctgCgcagcctgctctggccgggc	16	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:43638573C>T	uc003ovx.2	+	5	839	c.770C>T	c.(769-771)gCg>gTg	p.A257V	RSPH9_uc003ovw.2_Missense_Mutation_p.R240C	NM_001193341	NP_001180270	Q9H1X1	RSPH9_HUMAN	Homo sapiens radial spoke head 9 homolog (Chlamydomonas) (RSPH9), transcript variant 2, mRNA.	0					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGTGGTGCTGCGCAGCCTGCT	0.617									Kartagener syndrome				T	43638573	C	T	43638573	3	4	4	1	0	0	0	0	1	0	0	0	13708	768	27	1	736	1	RSPH9	6	43638573	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	224494	43638573	127476494	1584	3649											
TMEM63B	55362	broad.mit.edu	37	chr6	44115223	44115223	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctctgctgctgtgtggtgCgaggctgtgagcaggtatga	16	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:44115223C>T	uc003owr.3	+	11	1037	c.973C>T	c.(973-975)Cga>Tga	p.R325*	TMEM63B_uc003owq.1_Nonsense_Mutation_p.R325*|TMEM63B_uc003ows.3_Nonsense_Mutation_p.R228*|TMEM63B_uc010jyz.3_Non-coding_Transcript	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	325						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTGTGTGGTGCGAGGCTGTGA	0.622													T	44115223	C	T	44115223	4	4	4	1	0	0	0	0	0	1	0	0	16188	760	27	1	1015	1	TMEM63B	6	44115223	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	476650	44115223	126999844	1585	3650											
TCTE1	202500	broad.mit.edu	37	chr6	44248038	44248038	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggccaatgaggtactcGctttcctgggccacatctga	11	13	1	2	rs149052184		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:44248038G>A	uc003oxi.2	-	4	1542	c.1386C>T	c.(1384-1386)agC>agT	p.S462S	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	462								p.S462S(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGAGGTACTCGCTTTCCTGGG	0.587													A	44248038	G	A	44248038	2	1	4	1	0	0	0	0	0	0	0	1	15714	1078	38	1		1	TCTE1	6	44248038	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	132815	44248038	126867029	1586	3651											
CDC5L	988	broad.mit.edu	37	chr6	44364110	44364110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctttctgaagccagagccCgcttggctaatactcaggga	11	11	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:44364110C>T	uc003oxl.3	+	4	782	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	158					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGCCAGAGCCCGCTTGGCTAA	0.378													T	44364110	C	T	44364110	3	4	4	1	0	0	0	0	1	0	0	0	3082	652	23	1	490	1	CDC5L	6	44364110	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	116072	44364110	126750957	1587	3652											
CDC5L	988	broad.mit.edu	37	chr6	44376319	44376319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatgtcaccaacaacagcGttgctcttagaacaccacga	6	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:44376319G>A	uc003oxl.3	+	7	1352	c.1042G>A	c.(1042-1044)Gtt>Att	p.V348I		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	348	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAACAACAGCGTTGCTCTTAG	0.443													A	44376319	G	A	44376319	3	1	4	1	0	0	0	0	1	0	0	0	3082	1145	40	1	1072	1	CDC5L	6	44376319	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	12209	44376319	126738748	1588	3653											
SUPT3H	8464	broad.mit.edu	37	chr6	44922276	44922276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgctaagatttccattgCgacaacattgggttttatct	7	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:44922276C>T	uc003oxp.3	-	7	815	c.649G>A	c.(649-651)Gca>Aca	p.A217T	SUPT3H_uc003oxn.1_Missense_Mutation_p.A217T|SUPT3H_uc003oxo.3_Missense_Mutation_p.A228T|SUPT3H_uc011dvv.2_Missense_Mutation_p.A65T|SUPT3H_uc011dvw.2_Missense_Mutation_p.A131T	NM_003599	NP_003590	O75486	SUPT3_HUMAN	Homo sapiens suppressor of Ty 3 homolog (S. cerevisiae) (SUPT3H), transcript variant 1, mRNA.	299					histone H3 acetylation|histone deubiquitination|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						ATTTCCATTGCGACAACATTG	0.398													T	44922276	C	T	44922276	3	4	4	1	0	0	0	0	1	0	0	0	15394	768	27	1	320	1	SUPT3H	6	44922276	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	545957	44922276	126192791	1589	3654											
CLIC5	53405	broad.mit.edu	37	chr6	45922936	45922936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggatcatgaagaggcGctgagagaaaggacagttgc	15	7	1	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:45922936G>A	uc003oxv.3	-	1	692	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	CLIC5_uc003oxu.3_Missense_Mutation_p.R37C|CLIC5_uc003oxx.3_Missense_Mutation_p.R37C	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	196					female pregnancy	Golgi apparatus|actin cytoskeleton|cell cortex|chloride channel complex|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						ATGAAGAGGCGCTGAGAGAAA	0.488													A	45922936	G	A	45922936	3	1	4	1	0	0	0	0	1	0	0	0	3529	1087	38	1	666	1	CLIC5	6	45922936	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1000660	45922936	125192131	1590	3655											
ENPP4	22875	broad.mit.edu	37	chr6	46111218	46111218	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttagttgaccagtggtgCattaatctcccagaagccat	9	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:46111218C>T	uc003oxy.3	+	3	1462	c.1203C>T	c.(1201-1203)tgC>tgT	p.C401C		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	401						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						ACCAGTGGTGCATTAATCTCC	0.413													T	46111218	C	T	46111218	2	4	4	1	0	0	0	0	0	0	0	1	5132	718	25	2		2	ENPP4	6	46111218	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	188282	46111218	125003849	1591	3656											
SLC25A27	9481	broad.mit.edu	37	chr6	46630156	46630156	+	Frame_Shift_Del	DEL	T	T	-													tggctggtgttattggccagTttttagccaatccaactgac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:46630155_46630155GT>G	uc003oyh.3	+	3	704	c.426_426GT>G	c.(424-426)cagfs	p.Q142fs	SLC25A27_uc011dwb.2_Frame_Shift_Del_p.Q142fs|SLC25A27_uc003oyg.3_Frame_Shift_Del_p.Q142fs|SLC25A27_uc011dwc.2_Frame_Shift_Del_p.Q56fs|SLC25A27_uc003oyi.3_Frame_Shift_Del_p.Q72fs	NM_004277	NP_004268	O95847	UCP4_HUMAN	Homo sapiens solute carrier family 25, member 27 (SLC25A27), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	142					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			TTATTGGCCAGTTTTTAGCCA	0.383													-	46630156	T	-	46630156	7	5	4	1	0	1	0	1	0	0	0	0	14490	1725	60	0	441	0	SLC25A27	6	46630156	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	518938	46630156	124484911	1592	3657											
TDRD6	221400	broad.mit.edu	37	chr6	46657655	46657655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggcagctaccaatattggCtgtgaagtgcaccctggctg	12	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:46657655C>T	uc003oyj.3	+	0	2044	c.1790C>T	c.(1789-1791)gCt>gTt	p.A597V	TDRD6_uc010jze.3_Missense_Mutation_p.A597V	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	597					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CCAATATTGGCTGTGAAGTGC	0.448													T	46657655	C	T	46657655	3	4	4	1	0	0	0	0	1	0	0	0	15731	797	28	2	1792	2	TDRD6	6	46657655	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	27499	46657655	124457412	1593	3658											
GPR116	221395	broad.mit.edu	37	chr6	46828556	46828556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctgatttcatgttccgCtttgtctatgctaatagaaa	8	7	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:46828556C>T	uc003oyo.3	-	15	2564	c.2275G>A	c.(2275-2277)Gcg>Acg	p.A759T	GPR116_uc011dwj.1_Missense_Mutation_p.A314T|GPR116_uc011dwk.1_Missense_Mutation_p.A188T|GPR116_uc003oyp.3_Missense_Mutation_p.A617T|GPR116_uc003oyq.3_Missense_Mutation_p.A759T|GPR116_uc010jzi.1_Missense_Mutation_p.A431T	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	759					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCATGTTCCGCTTTGTCTATG	0.423													T	46828556	C	T	46828556	3	4	4	1	0	0	0	0	1	0	0	0	6633	797	28	2	1789	2	GPR116	6	46828556	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	170901	46828556	124286511	1594	3659											
TNFRSF21	27242	broad.mit.edu	37	chr6	47253980	47253980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaccccaacccacaggacAcaccgtatggggggcacagg	11	16	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:47253980A>G	uc003oyv.3	-	1	881	c.448T>C	c.(448-450)Tgt>Cgt	p.C150R		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	150					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CCCACAGGACACACCGTATGG	0.537													G	47253980	A	G	47253980	3	3	4	1	0	0	0	0	1	0	0	0	16292	159	6	3	1539	3	TNFRSF21	6	47253980	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	425424	47253980	123861087	1595	3660											
TFAP2B	7021	broad.mit.edu	37	chr6	50796340	50796340	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatattcacagtcagttgaAgatgccaataacagcggcat	8	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:50796340A>C	uc003pag.3	+	2	715	c.549A>C	c.(547-549)gaA>gaC	p.E183D		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	183					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.E183V(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AGTCAGTTGAAGATGCCAATA	0.338													C	50796340	A	C	50796340	3	2	4	1	0	0	0	0	1	0	0	0	15785	69	3	5	559	5	TFAP2B	6	50796340	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	3542360	50796340	120318727	1596	3661											
PKHD1	5314	broad.mit.edu	37	chr6	51484273	51484273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acactccattcatcaactggTgggggcactggttcaccttg	10	12	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:51484273T>C	uc003pah.1	-	66	12107	c.11831A>G	c.(11830-11832)cAc>cGc	p.H3944R		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3944					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CATCAACTGGTGGGGGCACTG	0.488													C	51484273	T	C	51484273	3	2	4	1	0	0	0	0	1	0	0	0	11971	1696	59	3	397	3	PKHD1	6	51484273	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	687933	51484273	119630794	1597	3662											
PKHD1	5314	broad.mit.edu	37	chr6	51732850	51732850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatgaggaaatggaaatGccactaagtttgaagagttt	11	5	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:51732850G>A	uc003pah.1	-	47	7820	c.7544C>T	c.(7543-7545)gCa>gTa	p.A2515V	PKHD1_uc010jzn.1_Missense_Mutation_p.A498V|PKHD1_uc003pai.3_Missense_Mutation_p.A2515V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2515					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.V2514L(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAATGGAAATGCCACTAAGTT	0.388													A	51732850	G	A	51732850	3	1	4	1	0	0	0	0	1	0	0	0	11971	1319	46	2	4799	2	PKHD1	6	51732850	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	248577	51732850	119382217	1598	3663											
PKHD1	5314	broad.mit.edu	37	chr6	51900433	51900433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcttgaattgcttgtagCgacattgatggcacacgagt	11	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:51900433C>T	uc003pah.1	-	27	3460	c.3184G>A	c.(3184-3186)Gct>Act	p.A1062T	PKHD1_uc003pai.3_Missense_Mutation_p.A1062T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1062	IPT/TIG 5.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTGCTTGTAGCGACATTGATG	0.448													T	51900433	C	T	51900433	3	4	4	1	0	0	0	0	1	0	0	0	11971	768	27	1	9239	1	PKHD1	6	51900433	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	167583	51900433	119214634	1599	3664											
GSTA4	2941	broad.mit.edu	37	chr6	52849393	52849393	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccagtgtcccctccacgtAcatgtcaatccttaaaacaa	4	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:52849393A>G	uc003pbf.3	-	4	433	c.283T>C	c.(283-285)Tac>Cac	p.Y95H	GSTA4_uc003pbd.3_Missense_Mutation_p.Y2H	NM_001512	NP_001503	O15217	GSTA4_HUMAN	Homo sapiens glutathione S-transferase alpha 4 (GSTA4), mRNA.	95	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	CCCTCCACGTACATGTCAATC	0.408													G	52849393	A	G	52849393	3	3	4	1	0	0	0	0	1	0	0	0	6833	391	14	3	397	3	GSTA4	6	52849393	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	948960	52849393	118265674	1600	3665											
ICK	22858	broad.mit.edu	37	chr6	52883237	52883237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccatgatgcagcccaccGcccagacgtcaatgggggag	13	14	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:52883237G>A	uc003pbh.2	-	7	1044	c.554C>T	c.(553-555)gCg>gTg	p.A185V	ICK_uc003pbi.2_Missense_Mutation_p.A185V|ICK_uc003pbj.3_Missense_Mutation_p.A185V	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	185	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	p.A185A(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					GCAGCCCACCGCCCAGACGTC	0.512													A	52883237	G	A	52883237	3	1	4	1	0	0	0	0	1	0	0	0	7484	1087	38	1	1376	1	ICK	6	52883237	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	33844	52883237	118231830	1601	3666											
GCM1	8521	broad.mit.edu	37	chr6	52996822	52996822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctggaaaaatataaagcGtccgtcgtgcctccagaagt	9	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:52996822G>A	uc003pbp.3	-	3	633	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	GCM1_uc010jzr.2_Missense_Mutation_p.R142C	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	142						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					AATATAAAGCGTCCGTCGTGC	0.502													A	52996822	G	A	52996822	3	1	4	1	0	0	0	0	1	0	0	0	6297	1145	40	1	898	1	GCM1	6	52996822	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	113585	52996822	118118245	1602	3667											
KLHL31	401265	broad.mit.edu	37	chr6	53516493	53516493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggacacgccgacagtgGcctcgggtagctcgtcgtcc	14	14	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:53516493G>A	uc003pcb.4	-	2	1949	c.1808C>T	c.(1807-1809)gCc>gTc	p.A603V	AX746830_uc003pcc.1_5'UTR	NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	603					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GCCGACAGTGGCCTCGGGTAG	0.612											OREG0017507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	53516493	G	A	53516493	3	1	4	1	0	0	0	0	1	0	0	0	8385	1203	42	2	100	2	KLHL31	6	53516493	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	519671	53516493	117598574	1603	3668											
GFRAL	389400	broad.mit.edu	37	chr6	55216125	55216125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctgtaatgcacagttgGcctcttaccttaaagcttgc	9	10	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:55216125G>A	uc003pcm.1	+	4	531	c.445G>A	c.(445-447)Gcc>Acc	p.A149T		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	149						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGCACAGTTGGCCTCTTACCT	0.453													A	55216125	G	A	55216125	3	1	4	1	0	0	0	0	1	0	0	0	6351	1203	42	2	463	2	GFRAL	6	55216125	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1699632	55216125	115898942	1604	3669											
BMP5	653	broad.mit.edu	37	chr6	55623844	55623844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggtggcattcatatgggCgttaagtggaaaagaacatt	13	4	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:55623844C>T	uc003pcq.3	-	5	1886	c.1174G>A	c.(1174-1176)Gcc>Acc	p.A392T	BMP5_uc011dxf.2_Intron	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	392					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.N391N(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTCATATGGGCGTTAAGTGGA	0.393													T	55623844	C	T	55623844	3	4	4	1	0	0	0	0	1	0	0	0	1463	768	27	1	198	1	BMP5	6	55623844	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	407719	55623844	115491223	1605	3670											
DST	667	broad.mit.edu	37	chr6	56323854	56323854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtgatttcctctggggCgtggggatttttgaaggctt	16	6	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:56323854C>T	uc003pcy.4	-	83	15573	c.15465G>A	c.(15463-15465)acG>acA	p.T5155T	DST_uc003pcv.4_Silent_p.T277T|DST_uc003pcw.4_Silent_p.T238T|DST_uc003pcx.4_Silent_p.T201T	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	7554					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	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCTCTGGGGCGTGGGGATTT	0.502													T	56323854	C	T	56323854	2	4	4	1	0	0	0	0	0	0	0	1	4783	755	27	1		1	DST	6	56323854	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	700010	56323854	114791213	1606	3671											
DST	667	broad.mit.edu	37	chr6	56392496	56392496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtaccttgctttaatgGcttccaatttatcttgaatt	5	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:56392496G>A	uc003pcy.4	-	48	9956	c.9848C>T	c.(9847-9849)gCc>gTc	p.A3283V		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	5695					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	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCTTTAATGGCTTCCAATTT	0.413													A	56392496	G	A	56392496	3	1	4	1	0	0	0	0	1	0	0	0	4783	1203	42	2	5811	2	DST	6	56392496	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	68642	56392496	114722571	1607	3672											
DST	667	broad.mit.edu	37	chr6	56464943	56464943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttggtgaccaattaggCggttttcagtttgggtaaga	12	6	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:56464943C>T	uc003pcy.4	-	25	3857	c.3749G>A	c.(3748-3750)cGc>cAc	p.R1250H	DST_uc010kaa.1_5'Flank	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	3662					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	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCAATTAGGCGGTTTTCAGT	0.403													T	56464943	C	T	56464943	3	4	4	1	0	0	0	0	1	0	0	0	4783	768	27	1	12002	1	DST	6	56464943	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	72447	56464943	114650124	1608	3673											
DST	667	broad.mit.edu	37	chr6	56499320	56499320	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtgaagcacacagatgggAccatagcctcattcccagta	10	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:56499320A>G	uc003pcy.4	-	11	1931	c.1823T>C	c.(1822-1824)gTc>gCc	p.V608A	DST_uc021zay.1_Missense_Mutation_p.V974A|DST_uc021zax.1_Missense_Mutation_p.V608A|DST_uc003pdc.4_Missense_Mutation_p.V608A|DST_uc003pdd.4_Missense_Mutation_p.V608A	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	934					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	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CACAGATGGGACCATAGCCTC	0.428													G	56499320	A	G	56499320	3	3	4	1	0	0	0	0	1	0	0	0	4783	275	10	3	18624	3	DST	6	56499320	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	34377	56499320	114615747	1609	3674											
BEND6	221336	broad.mit.edu	37	chr6	56880071	56880071	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccagattcatttgcctcaAcatgcagtaattctaattct	5	11	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:56880071A>G	uc010kab.3	+	3	1025	c.439A>G	c.(439-441)Aca>Gca	p.T147A	BEND6_uc003pdi.4_Missense_Mutation_p.T49A	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN	Homo sapiens BEN domain containing 6 (BEND6), mRNA.	147										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						ATTTGCCTCAACATGCAGTAA	0.478													G	56880071	A	G	56880071	3	3	4	1	0	0	0	0	1	0	0	0	1402	43	2	3	449	3	BEND6	6	56880071	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	380751	56880071	114234996	1610	3675											
KIAA1586	57691	broad.mit.edu	37	chr6	56917800	56917800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaggattgttcagcagttcGgcatttgggatcgaaagcag	13	6	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:56917800G>A	uc003pdj.3	+	3	673	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	KIAA1586_uc011dxm.2_Missense_Mutation_p.R141Q	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	Homo sapiens KIAA1586 (KIAA1586), mRNA.	168							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCAGCAGTTCGGCATTTGGGA	0.363													A	56917800	G	A	56917800	3	1	4	1	0	0	0	0	1	0	0	0	8245	1116	39	1	517	1	KIAA1586	6	56917800	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	37729	56917800	114197267	1611	3676											
KIAA1586	57691	broad.mit.edu	37	chr6	56918150	56918150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtaaattgtttaaatacaCgttacagtgcaacaagaata	7	5	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:56918150C>T	uc003pdj.3	+	3	1023	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C	KIAA1586_uc011dxm.2_Missense_Mutation_p.R258C	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	Homo sapiens KIAA1586 (KIAA1586), mRNA.	285							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTTAAATACACGTTACAGTGC	0.299													T	56918150	C	T	56918150	3	4	4	1	0	0	0	0	1	0	0	0	8245	536	19	1	867	1	KIAA1586	6	56918150	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	350	56918150	114196917	1612	3677											
PTP4A1	7803	broad.mit.edu	37	chr6	64286802	64286802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacatggctcgaatgaaccGcccagctcctgtggaagtca	10	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:64286802G>A	uc003pek.3	+	3	1003	c.17G>A	c.(16-18)cGc>cAc	p.R6H	PTP4A1_uc003pel.3_Missense_Mutation_p.R6H|PTP4A1_uc021zbm.1_5'Flank	NM_003463	NP_003454	Q93096	TP4A1_HUMAN	Homo sapiens protein tyrosine phosphatase type IVA, member 1 (PTP4A1), mRNA.	6					cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity			large_intestine(3)|lung(4)|skin(1)	8	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			CGAATGAACCGCCCAGCTCCT	0.328													A	64286802	G	A	64286802	3	1	4	1	0	0	0	0	1	0	0	0	12770	1087	38	1	19	1	PTP4A1	6	64286802	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	7368652	64286802	106828265	1613	3678											
PHF3	23469	broad.mit.edu	37	chr6	64394428	64394429	+	Frame_Shift_Ins	INS	-	-	A													tgttactattggagaaaagaINSaaaatgaagctttgatggaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:64394427_64394428G>GA	uc003pep.1	+	2	829_830	c.804_805G>GA	c.(802-807)aagaaafs	p.K268fs	PHF3_uc010kaf.1_Frame_Shift_Ins_p.K268fs|PHF3_uc003pem.2_Frame_Shift_Ins_p.K221fs|PHF3_uc010kag.1_Frame_Shift_Ins_p.K180fs|PHF3_uc010kah.1_Frame_Shift_Ins_p.K82fs|PHF3_uc003pen.2_Frame_Shift_Ins_p.K180fs|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Frame_Shift_Ins_p.K268fs	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	268					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTGGAGAAAAGAAAAATGAAGC	0.337													A	64394429	-	A	64394428	7	5	4	1	0	1	1	0	0	0	0	0	11836	247	9	0	815	0	PHF3	6	64394428	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	107626	64394428	106720639	1614	3679											
EYS	346007	broad.mit.edu	37	chr6	66200576	66200576	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacatgtggttgacactggCcaattatttctgagcaattc	9	8	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:66200576C>A	uc011dxu.1	-	4	1311	c.773G>T	c.(772-774)gGc>gTc	p.G258V	EYS_uc003peq.3_Missense_Mutation_p.G258V|EYS_uc003per.1_Missense_Mutation_p.G258V|EYS_uc021zbn.1_Missense_Mutation_p.G258V|EYS_uc010kaj.1_Non-coding_Transcript	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	258	EGF-like 3.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTGACACTGGCCAATTATTTC	0.303													A	66200576	C	A	66200576	3	1	4	1	0	0	0	0	1	0	0	0	5332	739	26	5	8779	5	EYS	6	66200576	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1806148	66200576	104914491	1615	3680											
BAI3	577	broad.mit.edu	37	chr6	69348715	69348715	+	Frame_Shift_Del	DEL	A	A	-													ctgtaagtgaaatgtttcctAaaaactttacaaactgcact							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:69348714_69348714TA>T	uc010kak.3	+	1	423	c.147_147TA>T	c.(145-147)cctfs	p.P49fs	BAI3_uc003pev.4_Frame_Shift_Del_p.P49fs	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	49	CUB.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P49P(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAATGTTTCCTAAAAACTTTA	0.383													-	69348715	A	-	69348715	7	5	4	1	0	1	0	1	0	0	0	0	1300	363	13	0	150	0	BAI3	6	69348715	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	3148139	69348715	101766352	1616	3681											
BAI3	577	broad.mit.edu	37	chr6	69665995	69665995	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggactcagcagagaagccgGcagtgcactgcagctgccca	14	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:69665995G>A	uc010kak.3	+	5	1551	c.1275G>A	c.(1273-1275)cgG>cgA	p.R425R	BAI3_uc003pev.4_Silent_p.R425R	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	425	TSP type-1 3.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGAGAAGCCGGCAGTGCACTG	0.542													A	69665995	G	A	69665995	2	1	4	1	0	0	0	0	0	0	0	1	1300	1190	42	2		2	BAI3	6	69665995	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	317280	69665995	101449072	1617	3682											
BAI3	577	broad.mit.edu	37	chr6	69703826	69703826	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacacatttaaaagggcaaGttacatccctgcatctgatg	8	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:69703826G>T	uc010kak.3	+	9	2177	c.1901G>T	c.(1900-1902)aGt>aTt	p.S634I	BAI3_uc003pev.4_Missense_Mutation_p.S634I	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	634					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A633V(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAAAGGGCAAGTTACATCCCT	0.443													T	69703826	G	T	69703826	3	4	4	1	0	0	0	0	1	0	0	0	1300	1029	36	5	1935	5	BAI3	6	69703826	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	37831	69703826	101411241	1618	3683											
BAI3	577	broad.mit.edu	37	chr6	69758103	69758103	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtattcagaagcttcctgcaGcctctgttctaacagacatc	7	12	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:69758103G>T	uc010kak.3	+	12	2410	c.2134G>T	c.(2134-2136)Gcc>Tcc	p.A712S	BAI3_uc003pev.4_Missense_Mutation_p.A712S	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	712					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCTTCCTGCAGCCTCTGTTCT	0.353													T	69758103	G	T	69758103	3	4	4	1	0	0	0	0	1	0	0	0	1300	971	34	5	2180	5	BAI3	6	69758103	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	54277	69758103	101356964	1619	3684											
BAI3	577	broad.mit.edu	37	chr6	70098714	70098714	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgctttggaactgaggccAgcagagtgggagaagtgtct	16	6	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:70098714A>G	uc010kak.3	+	30	4776	c.4500A>G	c.(4498-4500)ccA>ccG	p.P1500P	BAI3_uc003pev.4_Silent_p.P1500P|BAI3_uc011dxx.2_Silent_p.P706P	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1500					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AACTGAGGCCAGCAGAGTGGG	0.428													G	70098714	A	G	70098714	2	3	4	1	0	0	0	0	0	0	0	1	1300	175	7	3		3	BAI3	6	70098714	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	340611	70098714	101016353	1620	3685											
COL19A1	1310	broad.mit.edu	37	chr6	70639416	70639416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttagaaatcgagaactcCgtcctttgtttgatcgtcag	8	8	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:70639416C>T	uc003pfc.1	+	5	607	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C	COL19A1_uc010kam.2_Missense_Mutation_p.R60C	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	164	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCGAGAACTCCGTCCTTTGTT	0.393													T	70639416	C	T	70639416	3	4	4	1	0	0	0	0	1	0	0	0	3676	652	23	1	508	1	COL19A1	6	70639416	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	540702	70639416	100475651	1621	3686											
COL19A1	1310	broad.mit.edu	37	chr6	70639518	70639518	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taattgcgaggaggcagactGatgaaaaggacactgtggat	14	5	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:70639518G>A	uc003pfc.1	+	5	709	c.592G>A	c.(592-594)Gat>Aat	p.D198N	COL19A1_uc010kam.2_Missense_Mutation_p.D94N	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	198	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.T197P(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GAGGCAGACTGATGAAAAGGA	0.423													A	70639518	G	A	70639518	3	1	4	1	0	0	0	0	1	0	0	0	3676	1290	45	4	610	4	COL19A1	6	70639518	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	102	70639518	100475549	1622	3687											
COL9A1	1297	broad.mit.edu	37	chr6	71003937	71003937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccatcaatgtcaattgggCctcttggctttataggtaaa	9	8	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:71003937C>T	uc003pfg.4	-	4	788	c.629G>A	c.(628-630)gGc>gAc	p.G210D		NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	210	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GTCAATTGGGCCTCTTGGCTT	0.418													T	71003937	C	T	71003937	3	4	4	1	0	0	0	0	1	0	0	0	3707	739	26	2	2348	2	COL9A1	6	71003937	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	364419	71003937	100111130	1623	3688											
SMAP1	60682	broad.mit.edu	37	chr6	71442157	71442157	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcatagaaatcttggggtTcatatatccagggtcaaatc	8	7	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:71442157T>C	uc003pfr.3	+	1	443	c.195T>C	c.(193-195)gtT>gtC	p.V65V	SMAP1_uc011dxy.1_Non-coding_Transcript|SMAP1_uc003pfs.3_Silent_p.V65V|SMAP1_uc010kao.3_Silent_p.V65V|SMAP1_uc010kap.3_Silent_p.V55V	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN	Homo sapiens small ArfGAP 1 (SMAP1), transcript variant 1, mRNA.	65	Arf-GAP.				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						ATCTTGGGGTTCATATATCCA	0.363													C	71442157	T	C	71442157	2	2	4	1	0	0	0	0	0	0	0	1	14766	1770	62	3		3	SMAP1	6	71442157	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	438220	71442157	99672910	1624	3689											
RIMS1	22999	broad.mit.edu	37	chr6	73016981	73016981	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcttagtagtggaggagCgaacaagacagatgaaaatg	13	5	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:73016981C>T	uc003pga.3	+	26	3948	c.3871C>T	c.(3871-3873)Cga>Tga	p.R1291*	RIMS1_uc011dyb.2_Nonsense_Mutation_p.R688*|RIMS1_uc003pgc.3_Nonsense_Mutation_p.R740*|RIMS1_uc010kaq.3_Nonsense_Mutation_p.R611*|RIMS1_uc011dyc.2_Intron|RIMS1_uc010kar.3_Intron|RIMS1_uc011dyd.2_Intron|RIMS1_uc003pge.3_Nonsense_Mutation_p.R331*|RIMS1_uc003pgf.3_Nonsense_Mutation_p.R300*|RIMS1_uc003pgi.3_Intron|RIMS1_uc003pgg.3_Intron|RIMS1_uc003pgh.3_Intron|RIMS1_uc003pgd.3_Nonsense_Mutation_p.R357*|RIMS1_uc011dye.2_Nonsense_Mutation_p.R97*|RIMS1_uc011dyf.2_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1291					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGTGGAGGAGCGAACAAGACA	0.383													T	73016981	C	T	73016981	4	4	4	1	0	0	0	0	0	1	0	0	13367	760	27	1	4140	1	RIMS1	6	73016981	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1574824	73016981	98098086	1625	3690											
KCNQ5	56479	broad.mit.edu	37	chr6	73787158	73787158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagatcctccgcatggtgCgcatggaccgaaggggaggc	15	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:73787158C>T	uc011dyh.2	+	3	1077	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	KCNQ5_uc003pgj.4_Missense_Mutation_p.R244C|KCNQ5_uc011dyi.2_Missense_Mutation_p.R244C|KCNQ5_uc010kat.3_Missense_Mutation_p.R244C|KCNQ5_uc003pgk.3_Missense_Mutation_p.R244C|KCNQ5_uc011dyj.2_Missense_Mutation_p.R244C|KCNQ5_uc011dyk.2_Missense_Mutation_p.R3C	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	244			R -> C (in a colorectal cancer sample; somatic mutation).		protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.R244C(4)|p.R244H(2)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CCGCATGGTGCGCATGGACCG	0.438													T	73787158	C	T	73787158	3	4	4	1	0	0	0	0	1	0	0	0	8086	768	27	1	744	1	KCNQ5	6	73787158	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	770177	73787158	97327909	1626	3691											
KCNQ5	56479	broad.mit.edu	37	chr6	73879485	73879485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctgacacagcccttggCactgatgatgtatatgatga	11	9	0	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:73879485C>T	uc011dyh.2	+	11	1889	c.1542C>T	c.(1540-1542)ggC>ggT	p.G514G	KCNQ5_uc011dyi.2_Silent_p.G505G|KCNQ5_uc010kat.3_Silent_p.G486G|KCNQ5_uc003pgk.3_Silent_p.G495G|KCNQ5_uc011dyj.2_Intron|KCNQ5_uc011dyk.2_Silent_p.G245G	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	495					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CAGCCCTTGGCACTGATGATG	0.438													T	73879485	C	T	73879485	2	4	4	1	0	0	0	0	0	0	0	1	8086	697	25	2		2	KCNQ5	6	73879485	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	92327	73879485	97235582	1627	3692											
COL12A1	1303	broad.mit.edu	37	chr6	75839850	75839850	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtgggagaatagatgatcCtgtactgctgaactggccca	12	9	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:75839850C>A	uc021zbv.1	-	35	6202	c.6167G>T	c.(6166-6168)aGg>aTg	p.R2056M	COL12A1_uc021zbw.1_Missense_Mutation_p.R892M|COL12A1_uc003phs.3_Missense_Mutation_p.R2056M|COL12A1_uc003pht.3_Missense_Mutation_p.R892M	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2056	Fibronectin type-III 16.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATAGATGATCCTGTACTGCTG	0.448													A	75839850	C	A	75839850	3	1	4	1	0	0	0	0	1	0	0	0	3669	681	24	5	3144	5	COL12A1	6	75839850	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1960365	75839850	95275217	1628	3693											
FILIP1	27145	broad.mit.edu	37	chr6	76023157	76023157	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgacgtcacaggaacAtccaccattcttcttccatt	5	14	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:76023157A>G	uc010kbe.3	-	5	2930	c.2400T>C	c.(2398-2400)gaT>gaC	p.D800D	FILIP1_uc003phy.1_Silent_p.D797D|FILIP1_uc003phz.3_Silent_p.D698D|FILIP1_uc003pia.3_Silent_p.D797D|FILIP1_uc003pib.1_Silent_p.D549D	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	797										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCACAGGAACATCCACCATTC	0.507													G	76023157	A	G	76023157	2	3	4	1	0	0	0	0	0	0	0	1	5894	214	8	3		3	FILIP1	6	76023157	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	183307	76023157	95091910	1629	3694											
FILIP1	27145	broad.mit.edu	37	chr6	76124508	76124508	+	Frame_Shift_Del	DEL	T	T	-													tcgttcacattctccagatgTttttaggtgtcgtttgacag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:76124507_76124507GT>G	uc010kbe.3	-	2	721	c.191_191AC>C	c.(190-192)acafs	p.T64fs	FILIP1_uc003phy.1_Frame_Shift_Del_p.T61fs|FILIP1_uc003pia.3_Frame_Shift_Del_p.T61fs	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	61										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCTCCAGATGTTTTTAGGTG	0.408													-	76124508	T	-	76124508	7	5	4	1	0	1	0	1	0	0	0	0	5894	1725	60	0	3480	0	FILIP1	6	76124508	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	101351	76124508	94990559	1630	3695											
PHIP	55023	broad.mit.edu	37	chr6	79668246	79668246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcagatttcacaatagggCttccaggctcattaaatgtt	8	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:79668246C>T	uc011dyp.2	-	31	3951	c.3725G>A	c.(3724-3726)aGc>aAc	p.S1242N	PHIP_uc003piq.3_Missense_Mutation_p.S267N|PHIP_uc003pir.3_Missense_Mutation_p.S1243N|PHIP_uc003pio.4_Missense_Mutation_p.S129N	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	1243	Bromo 1.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CACAATAGGGCTTCCAGGCTC	0.289													T	79668246	C	T	79668246	3	4	4	1	0	0	0	0	1	0	0	0	11842	797	28	2	1773	2	PHIP	6	79668246	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3543738	79668246	91446821	1631	3696											
PHIP	55023	broad.mit.edu	37	chr6	79695140	79695140	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgacagcaactacttcGccttcctaagatatgttgaa	6	12	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:79695140G>A	uc011dyp.2	-	21	2689	c.2463C>T	c.(2461-2463)ggC>ggT	p.G821G	PHIP_uc003piq.3_5'Flank|PHIP_uc003pir.3_Silent_p.G822G	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	822					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CAACTACTTCGCCTTCCTAAG	0.323													A	79695140	G	A	79695140	2	1	4	1	0	0	0	0	0	0	0	1	11842	1074	38	1		1	PHIP	6	79695140	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	26894	79695140	91419927	1632	3697											
PHIP	55023	broad.mit.edu	37	chr6	79708078	79708078	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgggctgatctcctggTttgcttgctgacttaaaact	10	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:79708078T>G	uc011dyp.2	-	17	2136	c.1910A>C	c.(1909-1911)aAc>aCc	p.N637T	PHIP_uc003pir.3_Missense_Mutation_p.N637T	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	637					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GATCTCCTGGTTTGCTTGCTG	0.398													G	79708078	T	G	79708078	3	3	4	1	0	0	0	0	1	0	0	0	11842	1725	60	5	3647	5	PHIP	6	79708078	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	12938	79708078	91406989	1633	3698											
ELOVL4	6785	broad.mit.edu	37	chr6	80635973	80635973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagataatgagcactagacGcatctgaaaaggttctcggt	10	7	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:80635973G>A	uc003pja.4	-	1	545	c.226C>T	c.(226-228)Cgt>Tgt	p.R76C	ELOVL4_uc011dyt.2_Intron	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA.	76					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups	p.M75L(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	AGCACTAGACGCATCTGAAAA	0.388													A	80635973	G	A	80635973	3	1	4	1	0	0	0	0	1	0	0	0	5076	1087	38	1	738	1	ELOVL4	6	80635973	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	927895	80635973	90479094	1634	3699											
IBTK	25998	broad.mit.edu	37	chr6	82933304	82933304	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacctgacgaggagcagttAcacacttttctccattggga	10	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:82933304A>G	uc003pjl.1	-	7	1504	c.977T>C	c.(976-978)gTa>gCa	p.V326A	IBTK_uc011dyv.1_Missense_Mutation_p.V326A|IBTK_uc011dyw.1_Missense_Mutation_p.V326A|IBTK_uc010kbi.1_Missense_Mutation_p.V20A|IBTK_uc003pjm.2_Missense_Mutation_p.V326A	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	326					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AGGAGCAGTTACACACTTTTC	0.418													G	82933304	A	G	82933304	3	3	4	1	0	0	0	0	1	0	0	0	7476	391	14	3	3172	3	IBTK	6	82933304	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	2297331	82933304	88181763	1635	3700											
DOPEY1	23033	broad.mit.edu	37	chr6	83835317	83835317	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagacattgcacttatctgaActcacagattctctcagact	5	12	4	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:83835317A>T	uc011dyy.2	+	14	1817	c.1557A>T	c.(1555-1557)gaA>gaT	p.E519D	DOPEY1_uc003pjs.1_Missense_Mutation_p.E528D|DOPEY1_uc010kbl.1_Missense_Mutation_p.E519D	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	528					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACTTATCTGAACTCACAGATT	0.468													T	83835317	A	T	83835317	3	4	4	1	0	0	0	0	1	0	0	0	4707	40	2	5	1634	5	DOPEY1	6	83835317	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	902013	83835317	87279750	1636	3701											
DOPEY1	23033	broad.mit.edu	37	chr6	83845508	83845508	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagggtttcagtacagcgtgTacaagcagaacgttattgga	13	6	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:83845508T>C	uc011dyy.2	+	19	3274	c.3014T>C	c.(3013-3015)gTa>gCa	p.V1005A	DOPEY1_uc003pjs.1_Missense_Mutation_p.V1014A|DOPEY1_uc010kbl.1_Missense_Mutation_p.V1005A|DOPEY1_uc003pjt.3_5'Flank	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	1014					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GTACAGCGTGTACAAGCAGAA	0.428													C	83845508	T	C	83845508	3	2	4	1	0	0	0	0	1	0	0	0	4707	1638	57	3	3111	3	DOPEY1	6	83845508	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	10191	83845508	87269559	1637	3702											
DOPEY1	23033	broad.mit.edu	37	chr6	83848526	83848526	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttaaggtgcttcagaggCtgattgttctagaacacaga	10	7	3	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:83848526C>T	uc011dyy.2	+	20	4998	c.4738C>T	c.(4738-4740)Ctg>Ttg	p.L1580L	DOPEY1_uc003pjs.1_Silent_p.L1589L|DOPEY1_uc010kbl.1_Silent_p.L1580L|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	1589					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCTTCAGAGGCTGATTGTTCT	0.408													T	83848526	C	T	83848526	2	4	4	1	0	0	0	0	0	0	0	1	4707	796	28	2		2	DOPEY1	6	83848526	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3018	83848526	87266541	1638	3703											
DOPEY1	23033	broad.mit.edu	37	chr6	83863283	83863283	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgatgaaaaggagcgggtTattcctttacttgtaaatat	10	4	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:83863283T>C	uc011dyy.2	+	30	6416	c.6156T>C	c.(6154-6156)gtT>gtC	p.V2052V	DOPEY1_uc003pjs.1_Silent_p.V2061V|DOPEY1_uc010kbl.1_Silent_p.V2052V|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	2061					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGGAGCGGGTTATTCCTTTAC	0.308													C	83863283	T	C	83863283	2	2	4	1	0	0	0	0	0	0	0	1	4707	1741	61	3		3	DOPEY1	6	83863283	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	14757	83863283	87251784	1639	3704											
DOPEY1	23033	broad.mit.edu	37	chr6	83877659	83877659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcaccatctgcaccgtgCgcagtatggagcagctcctg	11	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:83877659C>T	uc011dyy.2	+	39	7464	c.7204C>T	c.(7204-7206)Cgc>Tgc	p.R2402C	PGM3_uc003pju.2_3'UTR|PGM3_uc003pjw.3_3'UTR|PGM3_uc011dyz.2_3'UTR|PGM3_uc021zcd.1_Intron|DOPEY1_uc003pjs.1_Missense_Mutation_p.R2391C|DOPEY1_uc010kbl.1_Missense_Mutation_p.R2382C|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	2391					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTGCACCGTGCGCAGTATGGA	0.512													T	83877659	C	T	83877659	3	4	4	1	0	0	0	0	1	0	0	0	4707	768	27	1	7317	1	DOPEY1	6	83877659	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	14376	83877659	87237408	1640	3705											
PGM3	5238	broad.mit.edu	37	chr6	83880190	83880190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtgctaataactctcctgTctgcaacctaagtgcaagca	7	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:83880190T>C	uc011dyz.2	-	12	1626	c.1457A>G	c.(1456-1458)gAc>gGc	p.D486G	PGM3_uc003pju.2_Missense_Mutation_p.D458G|PGM3_uc003pjw.3_Missense_Mutation_p.D377G|PGM3_uc021zcd.1_Missense_Mutation_p.D458G|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199917	NP_001186846	O95394	AGM1_HUMAN	Homo sapiens phosphoglucomutase 3 (PGM3), transcript variant 1, mRNA.	458					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		AACTCTCCTGTCTGCAACCTA	0.408													C	83880190	T	C	83880190	3	2	4	1	0	0	0	0	1	0	0	0	11800	1667	58	3	263	3	PGM3	6	83880190	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	2531	83880190	87234877	1641	3706											
PGM3	5238	broad.mit.edu	37	chr6	83900638	83900638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatgatcaagatgttctgCcttcgttcgaaatccagcag	9	10	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:83900638C>T	uc011dyz.2	-	2	347	c.178G>A	c.(178-180)Gca>Aca	p.A60T	PGM3_uc003pju.2_Missense_Mutation_p.A32T|PGM3_uc003pjw.3_Intron|PGM3_uc021zcd.1_Missense_Mutation_p.A32T|RWDD2A_uc003pjx.4_5'Flank|RWDD2A_uc011dza.2_5'Flank	NM_001199917	NP_001186846	O95394	AGM1_HUMAN	Homo sapiens phosphoglucomutase 3 (PGM3), transcript variant 1, mRNA.	32					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		AGATGTTCTGCCTTCGTTCGA	0.438													T	83900638	C	T	83900638	3	4	4	1	0	0	0	0	1	0	0	0	11800	739	26	2	1582	2	PGM3	6	83900638	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	20448	83900638	87214429	1642	3707											
CYB5R4	51167	broad.mit.edu	37	chr6	84634231	84634232	+	Frame_Shift_Ins	INS	-	-	A													aaaatagagattgttctacaINSaaaaaaagagaatacttctt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:84634230_84634231C>CA	uc003pkf.3	+	9	865_866	c.733_734C>CA	c.(733-735)caafs	p.Q245fs		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.	245	CS.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		GATTGTTCTACAAAAAAAAGAG	0.337													A	84634232	-	A	84634231	7	5	4	1	0	1	1	0	0	0	0	0	4129	130	5	0	772	0	CYB5R4	6	84634231	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	733593	84634231	86480836	1643	3708											
NT5E	4907	broad.mit.edu	37	chr6	86199295	86199295	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggaggtggtatccggtcGcccattgatgaacgcaacaa	12	9	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:86199295G>A	uc003pko.4	+	5	1744	c.1188G>A	c.(1186-1188)tcG>tcA	p.S396S	NT5E_uc010kbr.3_Silent_p.S396S	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	396					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	GTATCCGGTCGCCCATTGATG	0.473													A	86199295	G	A	86199295	2	1	4	1	0	0	0	0	0	0	0	1	10693	1074	38	1		1	NT5E	6	86199295	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1565064	86199295	84915772	1644	3709											
SYNCRIP	10492	broad.mit.edu	37	chr6	86324613	86324613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttctgattattggtctggCgccgcttggaatctggctgg	14	8	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:86324613C>T	uc003pla.2	-	10	2274	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H	SYNCRIP_uc003pku.3_Intron|SYNCRIP_uc003pkv.3_Intron|SYNCRIP_uc003pkw.3_Intron|SYNCRIP_uc003pkx.3_Intron|SYNCRIP_uc003pky.3_Intron|SYNCRIP_uc003pkz.2_Missense_Mutation_p.R543H	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein (SYNCRIP), transcript variant 1, mRNA.	578					CRD-mediated mRNA stabilization|interspecies interaction between organisms	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		ATTGGTCTGGCGCCGCTTGGA	0.552													T	86324613	C	T	86324613	3	4	4	1	0	0	0	0	1	0	0	0	15441	768	27	1	188	1	SYNCRIP	6	86324613	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	125318	86324613	84790454	1645	3710											
HTR1E	3354	broad.mit.edu	37	chr6	87725357	87725357	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtgtggctgagtgtggAcatgacctgctgcacctgct	15	9	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:87725357A>G	uc003pli.3	+	1	1008	c.305A>G	c.(304-306)gAc>gGc	p.D102G	HTR1E_uc021zcg.1_Missense_Mutation_p.D102G	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	102					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CTGAGTGTGGACATGACCTGC	0.557													G	87725357	A	G	87725357	3	3	4	1	0	0	0	0	1	0	0	0	7439	275	10	3	307	3	HTR1E	6	87725357	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1400744	87725357	83389710	1646	3711											
HTR1E	3354	broad.mit.edu	37	chr6	87725457	87725457	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatacgccaggaagaggacGgccaagagggccgcgctgat	16	10	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:87725457G>A	uc003pli.3	+	1	1108	c.405G>A	c.(403-405)acG>acA	p.T135T	HTR1E_uc021zcg.1_Silent_p.T135T	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	135					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GGAAGAGGACGGCCAAGAGGG	0.577													A	87725457	G	A	87725457	2	1	4	1	0	0	0	0	0	0	0	1	7439	1103	39	1		1	HTR1E	6	87725457	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	100	87725457	83389610	1647	3712											
ZNF292	23036	broad.mit.edu	37	chr6	87970954	87970954	+	Frame_Shift_Del	DEL	A	A	-													tttgaagagagttaataaggAaaaaaatgtctcacaaaata							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:87970953_87970953GA>G	uc003plm.4	+	7	7647	c.7606_7606GA>G	c.(7606-7608)gaafs	p.E2536fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGTTAATAAGGAAAAAAATGT	0.348													-	87970954	A	-	87970954	7	5	4	1	0	1	0	1	0	0	0	0	17823	246	9	0	7637	0	ZNF292	6	87970954	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	245497	87970954	83144113	1648	3713											
C6orf162	57150	broad.mit.edu	37	chr6	88049953	88049953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagctattgatagtgagggGcacagttatatgaggcggaa	15	4	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:88049953G>A	uc003plp.1	+	3	344	c.255G>A	c.(253-255)ggG>ggA	p.G85G	C6orf162_uc021zck.1_Intron|C6orf162_uc003plq.1_Silent_p.G85G	NM_001042493	NP_065158	Q96KF7	CF162_HUMAN	Homo sapiens chromosome 6 open reading frame 162 (C6orf162), transcript variant 1, mRNA.	85						integral to membrane				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(76;3.81e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.3e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0164)		ATAGTGAGGGGCACAGTTATA	0.388													A	88049953	G	A	88049953	2	1	4	1	0	0	0	0	0	0	0	1	2340	1190	42	2		2	C6orf162	6	88049953	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	78999	88049953	83065114	1649	3714											
C6orf165	154313	broad.mit.edu	37	chr6	88128088	88128088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatatatgttaaaagaagCgctatataatatacgacaat	6	6	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:88128088C>T	uc003plv.3	+	6	917	c.794C>T	c.(793-795)gCg>gTg	p.A265V	C6orf165_uc003plu.2_Missense_Mutation_p.A265V|C6orf165_uc003plw.3_Missense_Mutation_p.A77V|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	265										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TTAAAAGAAGCGCTATATAAT	0.418													T	88128088	C	T	88128088	3	4	4	1	0	0	0	0	1	0	0	0	2341	768	27	1	816	1	C6orf165	6	88128088	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	78135	88128088	82986979	1650	3715											
CNR1	1268	broad.mit.edu	37	chr6	88854116	88854116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagagaatatacatgtacGcatacacgatgaacagaagc	8	9	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:88854116G>A	uc010kbz.3	-	1	1008	c.878C>T	c.(877-879)gCg>gTg	p.A293V	CNR1_uc011dzr.2_Missense_Mutation_p.A293V|CNR1_uc011dzs.2_Missense_Mutation_p.A293V|CNR1_uc003pmq.4_Missense_Mutation_p.A293V|CNR1_uc011dzt.2_Missense_Mutation_p.A293V|CNR1_uc010kca.3_Missense_Mutation_p.A260V|CNR1_uc021zco.1_Missense_Mutation_p.A293V	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	293					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ATACATGTACGCATACACGAT	0.507													A	88854116	G	A	88854116	3	1	4	1	0	0	0	0	1	0	0	0	3631	1087	38	1	544	1	CNR1	6	88854116	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	726028	88854116	82260951	1651	3716											
CNR1	1268	broad.mit.edu	37	chr6	88854156	88854156	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagtacgctggtgaccccgaTccagaacatcaggtaggttt	11	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:88854156T>A	uc010kbz.3	-	1	968	c.838A>T	c.(838-840)Atc>Ttc	p.I280F	CNR1_uc011dzr.2_Missense_Mutation_p.I280F|CNR1_uc011dzs.2_Missense_Mutation_p.I280F|CNR1_uc003pmq.4_Missense_Mutation_p.I280F|CNR1_uc011dzt.2_Missense_Mutation_p.I280F|CNR1_uc010kca.3_Missense_Mutation_p.I247F|CNR1_uc021zco.1_Missense_Mutation_p.I280F	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	280					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GTGACCCCGATCCAGAACATC	0.527													A	88854156	T	A	88854156	3	1	4	1	0	0	0	0	1	0	0	0	3631	1435	50	5	584	5	CNR1	6	88854156	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	40	88854156	82260911	1652	3717											
PM20D2	135293	broad.mit.edu	37	chr6	89868083	89868083	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacatgattattacaatgttCttcccaataagagcctatgg	6	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:89868083C>A	uc003pmz.3	+	4	1047	c.952C>A	c.(952-954)Ctt>Att	p.L318I		NM_001010853	NP_001010853	Q8IYS1	P20D2_HUMAN	Homo sapiens peptidase M20 domain containing 2 (PM20D2), mRNA.	318							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		TTACAATGTTCTTCCCAATAA	0.313													A	89868083	C	A	89868083	3	1	4	1	0	0	0	0	1	0	0	0	12129	913	32	5	970	5	PM20D2	6	89868083	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1013927	89868083	81246984	1653	3718											
MDN1	23195	broad.mit.edu	37	chr6	90363931	90363931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcctctggcttcagctgctCcacgtctgctgctttgaact	8	14	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:90363931C>T	uc003pnn.1	-	92	15729	c.15613G>A	c.(15613-15615)Gag>Aag	p.E5205K		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	5205					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCAGCTGCTCCACGTCTGCT	0.532													T	90363931	C	T	90363931	3	4	4	1	0	0	0	0	1	0	0	0	9415	864	30	4	1217	4	MDN1	6	90363931	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	495848	90363931	80751136	1654	3719											
MDN1	23195	broad.mit.edu	37	chr6	90365627	90365627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagcctcttgtgcacacGctcattgtgatcacccatgg	8	15	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:90365627G>A	uc003pnn.1	-	91	15462	c.15346C>T	c.(15346-15348)Cgt>Tgt	p.R5116C		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	5116					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTGTGCACACGCTCATTGTGA	0.542													A	90365627	G	A	90365627	3	1	4	1	0	0	0	0	1	0	0	0	9415	1087	38	1	1488	1	MDN1	6	90365627	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1696	90365627	80749440	1655	3720											
MDN1	23195	broad.mit.edu	37	chr6	90372631	90372631	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcctcaccattgagatcGcccatgtgtttatccaggtc	8	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:90372631G>A	uc003pnn.1	-	85	14408	c.14292C>T	c.(14290-14292)ggC>ggT	p.G4764G		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	4764					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CATTGAGATCGCCCATGTGTT	0.468													A	90372631	G	A	90372631	2	1	4	1	0	0	0	0	0	0	0	1	9415	1074	38	1		1	MDN1	6	90372631	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	7004	90372631	80742436	1656	3721											
MDN1	23195	broad.mit.edu	37	chr6	90420485	90420485	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaattcctgagagatgcagcActggcttccaaatgaatttg	9	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:90420485A>T	uc003pnn.1	-	49	7796	c.7680T>A	c.(7678-7680)agT>agA	p.S2560R		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2560					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAGATGCAGCACTGGCTTCCA	0.398													T	90420485	A	T	90420485	3	4	4	1	0	0	0	0	1	0	0	0	9415	156	6	5	9322	5	MDN1	6	90420485	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	47854	90420485	80694582	1657	3722											
MDN1	23195	broad.mit.edu	37	chr6	90422950	90422950	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtctaaactcagccctcGctgcaggtactggacaatta	8	12	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:90422950G>A	uc003pnn.1	-	46	7251	c.7135C>T	c.(7135-7137)Cga>Tga	p.R2379*		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2379					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCAGCCCTCGCTGCAGGTAC	0.413													A	90422950	G	A	90422950	4	1	4	1	0	0	0	0	0	1	0	0	9415	1095	38	1	9879	1	MDN1	6	90422950	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2465	90422950	80692117	1658	3723											
MDN1	23195	broad.mit.edu	37	chr6	90433295	90433295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctggaaacaaagtactgGcaatgaactccatgtcaatt	9	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:90433295G>A	uc003pnn.1	-	38	5830	c.5714C>T	c.(5713-5715)gCc>gTc	p.A1905V		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	1905					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAAAGTACTGGCAATGAACTC	0.333													A	90433295	G	A	90433295	3	1	4	1	0	0	0	0	1	0	0	0	9415	1203	42	2	11332	2	MDN1	6	90433295	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	10345	90433295	80681772	1659	3724											
MDN1	23195	broad.mit.edu	37	chr6	90499580	90499580	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtcagggtgccaggctgCcacacaaactctccaggaac	11	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:90499580C>T	uc003pnn.1	-	6	1265	c.1149G>A	c.(1147-1149)tgG>tgA	p.W383*	MDN1_uc003pnp.1_Nonsense_Mutation_p.W383*	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	383					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGCCAGGCTGCCACACAAACT	0.483													T	90499580	C	T	90499580	4	4	4	1	0	0	0	0	0	1	0	0	9415	740	26	2	16025	2	MDN1	6	90499580	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	66285	90499580	80615487	1660	3725											
CASP8AP2	9994	broad.mit.edu	37	chr6	90572093	90572093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatctgttgagaaacactGcactaatggtgtttggtcac	9	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:90572093G>A	uc003pnr.3	+	6	861	c.665G>A	c.(664-666)tGc>tAc	p.C222Y	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Missense_Mutation_p.C222Y|CASP8AP2_uc011dzz.2_Missense_Mutation_p.C222Y	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	222					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GAGAAACACTGCACTAATGGT	0.398													A	90572093	G	A	90572093	3	1	4	1	0	0	0	0	1	0	0	0	2678	1319	46	2	687	2	CASP8AP2	6	90572093	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	72513	90572093	80542974	1661	3726											
BACH2	60468	broad.mit.edu	37	chr6	90660539	90660539	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaggagaagatcacgctcCtccggtccagctctccctcc	10	16	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:90660539C>A	uc011eab.2	-	6	2160	c.1286G>T	c.(1285-1287)aGg>aTg	p.R429M	BACH2_uc003pnw.3_Missense_Mutation_p.R429M|BACH2_uc010kch.3_Missense_Mutation_p.R429M	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	429						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GATCACGCTCCTCCGGTCCAG	0.597													A	90660539	C	A	90660539	3	1	4	1	0	0	0	0	1	0	0	0	1284	681	24	5	1251	5	BACH2	6	90660539	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	88446	90660539	80454528	1662	3727											
BACH2	60468	broad.mit.edu	37	chr6	90718450	90718450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctccacgatcaaagtcacGtcacagagaatatccttttt	5	12	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:90718450G>A	uc011eab.2	-	5	988	c.114C>T	c.(112-114)gaC>gaT	p.D38D	BACH2_uc003pnw.3_Silent_p.D38D|BACH2_uc010kch.3_Silent_p.D38D	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	38	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding	p.D38N(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TCAAAGTCACGTCACAGAGAA	0.537													A	90718450	G	A	90718450	2	1	4	1	0	0	0	0	0	0	0	1	1284	1136	40	1		1	BACH2	6	90718450	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	57911	90718450	80396617	1663	3728											
KLHL32	114792	broad.mit.edu	37	chr6	97562260	97562260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggcagaaatgaactgcGccaggttctgcctacagttg	14	9	1	2	rs150244885		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:97562260G>A	uc010kcm.1	+	6	1701	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	KLHL32_uc003poy.3_Missense_Mutation_p.R410H|KLHL32_uc003poz.2_Intron|KLHL32_uc011ead.1_Missense_Mutation_p.R374H|KLHL32_uc011eae.1_Missense_Mutation_p.R341H|KLHL32_uc003ppa.2_Intron|MIR548H3_uc021zda.1_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA.	410										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		AATGAACTGCGCCAGGTTCTG	0.498													A	97562260	G	A	97562260	3	1	4	1	0	0	0	0	1	0	0	0	8386	1087	38	1	1251	1	KLHL32	6	97562260	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	6843810	97562260	73552807	1664	3729											
POU3F2	5454	broad.mit.edu	37	chr6	99283807	99283807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagatcgcagcgcaagggcGcaagcggaaaaagcggacct	14	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:99283807G>A	uc003ppe.3	+	0	1228	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H		NM_005604	NP_005595	P20265	PO3F2_HUMAN	Homo sapiens POU class 3 homeobox 2 (POU3F2), mRNA.	353					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GCGCAAGGGCGCAAGCGGAAA	0.597													A	99283807	G	A	99283807	3	1	4	1	0	0	0	0	1	0	0	0	12275	1087	38	1	1060	1	POU3F2	6	99283807	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1721547	99283807	71831260	1665	3730											
POU3F2	5454	broad.mit.edu	37	chr6	99283841	99283841	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggacctccatcgaggtgagCgtcaagggggctctggagag	17	10	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:99283841C>T	uc003ppe.3	+	0	1262	c.1092C>T	c.(1090-1092)agC>agT	p.S364S		NM_005604	NP_005595	P20265	PO3F2_HUMAN	Homo sapiens POU class 3 homeobox 2 (POU3F2), mRNA.	364					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		TCGAGGTGAGCGTCAAGGGGG	0.632													T	99283841	C	T	99283841	2	4	4	1	0	0	0	0	0	0	0	1	12275	767	27	1		1	POU3F2	6	99283841	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	34	99283841	71831226	1666	3731											
PRDM13	59336	broad.mit.edu	37	chr6	100062403	100062403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagggcaatacgccctaccGctgcgagttctgcggcaagg	14	13	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:100062403G>A	uc003pqg.1	+	3	2153	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	Homo sapiens PR domain containing 13 (PRDM13), mRNA.	631					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ACGCCCTACCGCTGCGAGTTC	0.637													A	100062403	G	A	100062403	3	1	4	1	0	0	0	0	1	0	0	0	12454	1087	38	1	1906	1	PRDM13	6	100062403	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	778562	100062403	71052664	1667	3732											
MCHR2	84539	broad.mit.edu	37	chr6	100403950	100403950	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacactggcagtttgataaGcaaactctttattccaggat	7	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:100403950G>T	uc003pqh.1	-	1	389	c.74C>A	c.(73-75)gCt>gAt	p.A25D	MCHR2_uc003pqi.1_Missense_Mutation_p.A25D	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	25						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGTTTGATAAGCAAACTCTTT	0.418													T	100403950	G	T	100403950	3	4	4	1	0	0	0	0	1	0	0	0	9383	971	34	5	968	5	MCHR2	6	100403950	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	341547	100403950	70711117	1668	3733											
SIM1	6492	broad.mit.edu	37	chr6	100897563	100897563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtattcataaatgctgtttcCggtcagctctacctgtaaag	8	9	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:100897563C>T	uc003pqj.4	-	3	828	c.361G>A	c.(361-363)Gga>Aga	p.G121R	SIM1_uc021zdg.1_Missense_Mutation_p.G121R|SIM1_uc010kcu.3_Missense_Mutation_p.G121R	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	121	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ATGCTGTTTCCGGTCAGCTCT	0.572													T	100897563	C	T	100897563	3	4	4	1	0	0	0	0	1	0	0	0	14323	661	23	1	1971	1	SIM1	6	100897563	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	493613	100897563	70217504	1669	3734											
ASCC3	10973	broad.mit.edu	37	chr6	101091910	101091910	+	Frame_Shift_Del	DEL	T	T	-													cacatatatacacttacttgTttttttagagctagaaaata							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:101091909_101091909GT>G	uc003pqk.3	-	22	4059	c.3730_3730AC>C	c.(3730-3732)caafs	p.Q1244fs		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	1244	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.Q1244H(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ACACTTACTTGTTTTTTTAGA	0.289													-	101091910	T	-	101091910	7	5	4	1	0	1	0	1	0	0	0	0	1033	1722	60	0	2959	0	ASCC3	6	101091910	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	194347	101091910	70023157	1670	3735											
ASCC3	10973	broad.mit.edu	37	chr6	101109778	101109778	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatggctgagtttatcatgCgttgttataattattccttc	7	6	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:101109778C>T	uc003pqk.3	-	15	2936	c.2607G>A	c.(2605-2607)acG>acA	p.T869T	ASCC3_uc011eai.1_Silent_p.T771T	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	869	Helicase C-terminal 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTTTATCATGCGTTGTTATAA	0.408													T	101109778	C	T	101109778	2	4	4	1	0	0	0	0	0	0	0	1	1033	755	27	1		1	ASCC3	6	101109778	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	17868	101109778	70005289	1671	3736											
ASCC3	10973	broad.mit.edu	37	chr6	101165958	101165958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgagtatttaccttatttGcacatttaatccccaaaaat	3	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:101165958G>A	uc003pqk.3	-	11	2401	c.2072C>T	c.(2071-2073)gCa>gTa	p.A691V	ASCC3_uc011eai.1_Missense_Mutation_p.A593V|ASCC3_uc003pql.3_Missense_Mutation_p.A691V	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	691					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TACCTTATTTGCACATTTAAT	0.318													A	101165958	G	A	101165958	3	1	4	1	0	0	0	0	1	0	0	0	1033	1319	46	2	4660	2	ASCC3	6	101165958	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	56180	101165958	69949109	1672	3737											
ASCC3	10973	broad.mit.edu	37	chr6	101215064	101215064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttgttgaaaatgttggCgaatttcatgcaagactgtc	9	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:101215064C>T	uc003pqk.3	-	8	1882	c.1553G>A	c.(1552-1554)cGc>cAc	p.R518H	ASCC3_uc011eai.1_Missense_Mutation_p.R420H|ASCC3_uc003pql.3_Missense_Mutation_p.R518H	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	518	Helicase ATP-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AAAATGTTGGCGAATTTCATG	0.348													T	101215064	C	T	101215064	3	4	4	1	0	0	0	0	1	0	0	0	1033	768	27	1	5191	1	ASCC3	6	101215064	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	49106	101215064	69900003	1673	3738											
GRIK2	2898	broad.mit.edu	37	chr6	101847167	101847167	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaacaccatgaagattatttTcccgattctaagtaatccag	5	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:101847167T>A	uc003pqp.4	+	0	307	c.14T>A	c.(13-15)tTc>tAc	p.F5Y	GRIK2_uc021zdi.1_Non-coding_Transcript|GRIK2_uc021zdj.1_Missense_Mutation_p.F5Y|GRIK2_uc003pqn.3_Missense_Mutation_p.F5Y|GRIK2_uc010kcw.3_Missense_Mutation_p.F5Y|GRIK2_uc003pqo.4_Missense_Mutation_p.F5Y|GRIK2_uc021zdk.1_Missense_Mutation_p.F5Y|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	5					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AAGATTATTTTCCCGATTCTA	0.483													A	101847167	T	A	101847167	3	1	4	1	0	0	0	0	1	0	0	0	6774	1783	62	5	16	5	GRIK2	6	101847167	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	632103	101847167	69267900	1674	3739											
GRIK2	2898	broad.mit.edu	37	chr6	102074360	102074360	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgggagttccccacaTacagacccgctggaagcacc	10	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:102074360T>C	uc003pqp.4	+	2	682	c.389T>C	c.(388-390)aTa>aCa	p.I130T	GRIK2_uc021zdj.1_Missense_Mutation_p.I130T|GRIK2_uc003pqn.3_Missense_Mutation_p.I130T|GRIK2_uc010kcw.3_Missense_Mutation_p.I130T|GRIK2_uc003pqo.4_Missense_Mutation_p.I130T|GRIK2_uc021zdk.1_Missense_Mutation_p.I130T|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	130					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GTTCCCCACATACAGACCCGC	0.532													C	102074360	T	C	102074360	3	2	4	1	0	0	0	0	1	0	0	0	6774	1406	49	3	399	3	GRIK2	6	102074360	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	227193	102074360	69040707	1675	3740											
GRIK2	2898	broad.mit.edu	37	chr6	102503338	102503338	+	Frame_Shift_Del	DEL	G	G	-													agcaaagaggccagtgccctGggggttcagaatattggtgg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:102503337_102503337TG>T	uc003pqp.4	+	14	2737	c.2444_2444TG>T	c.(2443-2445)ctgfs	p.L815fs	GRIK2_uc010kcw.3_Frame_Shift_Del_p.L815fs|GRIK2_uc003pqo.4_Frame_Shift_Del_p.L815fs|GRIK2_uc021zdk.1_Frame_Shift_Del_p.L628fs|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	815					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GCCAGTGCCCTGGGGGTTCAG	0.473													-	102503338	G	-	102503338	7	5	4	1	0	1	0	1	0	0	0	0	6774	1335	47	0	2503	0	GRIK2	6	102503338	Frame_Shift_Del	DEL	G	TCGA-BR-4184-01A-01D-1126-08	428978	102503338	68611729	1676	3741											
HACE1	57531	broad.mit.edu	37	chr6	105192433	105192433	+	Frame_Shift_Del	DEL	T	T	-													agccacttgtgtattctgtaTtttttatccaatcactcaca							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:105192432_105192432AT>A	uc003pqu.1	-	20	2674	c.2397_2397AT>T	c.(2395-2397)aatfs	p.N799fs	HACE1_uc010kcy.1_Frame_Shift_Del_p.N281fs|HACE1_uc010kcz.1_Frame_Shift_Del_p.N584fs|HACE1_uc010kcx.1_Frame_Shift_Del_p.N208fs|HACE1_uc003pqt.1_Frame_Shift_Del_p.N452fs	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.	799	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TGTATTCTGTATTTTTTATCC	0.328													-	105192433	T	-	105192433	7	5	4	1	0	1	0	1	0	0	0	0	6940	1493	52	0	349	0	HACE1	6	105192433	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	2689095	105192433	65922634	1677	3742											
HACE1	57531	broad.mit.edu	37	chr6	105244857	105244857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatctggcagatatttggCtcctcgtaatagtaggatct	9	7	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:105244857C>T	uc003pqu.1	-	7	938	c.661G>A	c.(661-663)Gcc>Acc	p.A221T	HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.A221T	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.	221					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AGATATTTGGCTCCTCGTAAT	0.338													T	105244857	C	T	105244857	3	4	4	1	0	0	0	0	1	0	0	0	6940	797	28	2	2136	2	HACE1	6	105244857	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	52424	105244857	65870210	1678	3743											
POPDC3	64208	broad.mit.edu	37	chr6	105609713	105609713	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgataaatggctccttcggcCtcttgcttccaggttgtgca	10	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:105609713C>A	uc003prb.3	-	1	474	c.72G>T	c.(70-72)gaG>gaT	p.E24D	BVES-AS1_uc003pqz.3_Intron|POPDC3_uc003pra.3_Non-coding_Transcript	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	Homo sapiens popeye domain containing 3 (POPDC3), transcript variant 1, mRNA.	24						integral to membrane		p.Q23R(1)		NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CTCCTTCGGCCTCTTGCTTCC	0.433													A	105609713	C	A	105609713	3	1	4	1	0	0	0	0	1	0	0	0	12256	680	24	5	815	5	POPDC3	6	105609713	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	364856	105609713	65505354	1679	3744											
PREP	5550	broad.mit.edu	37	chr6	105730445	105730445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagcagttttgtttgttgGccaagataccacctacagtg	9	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:105730445G>A	uc003prc.3	-	12	1795	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	521					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TTGTTTGTTGGCCAAGATACC	0.378													A	105730445	G	A	105730445	3	1	4	1	0	0	0	0	1	0	0	0	12474	1203	42	2	582	2	PREP	6	105730445	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	120732	105730445	65384622	1680	3745											
PREP	5550	broad.mit.edu	37	chr6	105736746	105736746	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaacattggaatcttcgtAccatccttgctagggtagaa	9	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:105736746A>G	uc003prc.3	-	10	1574	c.1341T>C	c.(1339-1341)ggT>ggC	p.G447G		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	447					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GAATCTTCGTACCATCCTTGC	0.353													G	105736746	A	G	105736746	2	3	4	1	0	0	0	0	0	0	0	1	12474	378	14	3		3	PREP	6	105736746	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	6301	105736746	65378321	1681	3746											
PRDM1	639	broad.mit.edu	37	chr6	106553770	106553770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatcaagtacgaatgcaacGtttgcgccaagactttcggc	10	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:106553770G>A	uc003prd.2	+	4	1969	c.1735G>A	c.(1735-1737)Gtt>Att	p.V579I	PRDM1_uc003pre.3_Missense_Mutation_p.V445I	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	579					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CGAATGCAACGTTTGCGCCAA	0.483			"D, N, Mis, F, S"		DLBCL								A	106553770	G	A	106553770	3	1	4	1	0	0	0	0	1	0	0	0	12450	1145	40	1	1766	1	PRDM1	6	106553770	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	817024	106553770	64561297	1682	3747											
SOBP	55084	broad.mit.edu	37	chr6	107956476	107956476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgaaccttaataaccccGcggacgaggaccatgcctat	8	15	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:107956476G>A	uc003prx.3	+	5	2932	c.2428G>A	c.(2428-2430)Gcg>Acg	p.A810T		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA.	810							metal ion binding	p.A810V(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TAATAACCCCGCGGACGAGGA	0.647													A	107956476	G	A	107956476	3	1	4	1	0	0	0	0	1	0	0	0	14912	1087	38	1	2450	1	SOBP	6	107956476	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1402706	107956476	63158591	1683	3748											
SESN1	27244	broad.mit.edu	37	chr6	109315692	109315692	+	Frame_Shift_Del	DEL	T	T	-													gaagacaaacatactctctcTtttttctatttcaaaacgtg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:109315691_109315691CT>C	uc003psu.3	-	5	1526	c.1094_1094AG>G	c.(1093-1095)agafs	p.R365fs	SESN1_uc021zdp.1_Frame_Shift_Del_p.R240fs|SESN1_uc003pst.4_Frame_Shift_Del_p.R306fs	NM_014454	NP_001186863	Q9Y6P5	SESN1_HUMAN	Homo sapiens sestrin 1 (SESN1), transcript variant 1, mRNA.	306					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		CATACTCTCTCTTTTTTCTAT	0.338													-	109315692	T	-	109315692	7	5	4	1	0	1	0	1	0	0	0	0	14124	1617	56	0	582	0	SESN1	6	109315692	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	1359216	109315692	61799375	1684	3749											
FIG4	9896	broad.mit.edu	37	chr6	110146311	110146311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacacccatctcggctttctCgcaagataacatctatgaag	6	12	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:110146311C>T	uc003ptt.2	+	22	2782	c.2567C>T	c.(2566-2568)tCg>tTg	p.S856L	FIG4_uc011eau.1_Missense_Mutation_p.S550L	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) (FIG4), mRNA.	856					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TCGGCTTTCTCGCAAGATAAC	0.458													T	110146311	C	T	110146311	3	4	4	1	0	0	0	0	1	0	0	0	5888	893	31	1	2657	1	FIG4	6	110146311	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	830619	110146311	60968756	1685	3750											
WASF1	8936	broad.mit.edu	37	chr6	110421800	110421800	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacagcaatacggcgagaCaggatggtggcaacatcgtt	12	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:110421800C>T	uc003ptv.1	-	10	2442	c.1605G>A	c.(1603-1605)ctG>ctA	p.L535L	WASF1_uc003ptw.1_Silent_p.L535L|WASF1_uc003ptx.1_Silent_p.L535L|WASF1_uc003pty.1_Silent_p.L535L	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Homo sapiens WAS protein family, member 1 (WASF1), transcript variant 1, mRNA.	535					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		TACGGCGAGACAGGATGGTGG	0.393													T	110421800	C	T	110421800	2	4	4	1	0	0	0	0	0	0	0	1	17249	465	17	4		4	WASF1	6	110421800	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	275489	110421800	60693267	1686	3751											
CDC40	51362	broad.mit.edu	37	chr6	110547422	110547422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccagtatgcactcaatgCctgcagtgactttgtctcca	7	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:110547422C>T	uc003pua.3	+	12	1454	c.1393C>T	c.(1393-1395)Cct>Tct	p.P465S		NM_015891	NP_056975	O60508	PRP17_HUMAN	Homo sapiens cell division cycle 40 homolog (S. cerevisiae) (CDC40), mRNA.	465					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		GCACTCAATGCCTGCAGTGAC	0.328													T	110547422	C	T	110547422	3	4	4	1	0	0	0	0	1	0	0	0	3070	739	26	2	1443	2	CDC40	6	110547422	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	125622	110547422	60567645	1687	3752											
SLC22A16	85413	broad.mit.edu	37	chr6	110746270	110746270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacactccactcaggagggCcatagtcccaacaaacaact	6	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:110746270C>T	uc003puf.3	-	7	1607	c.1540G>A	c.(1540-1542)Gcc>Acc	p.A514T	SLC22A16_uc003pue.3_Missense_Mutation_p.A495T	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	514					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CTCAGGAGGGCCATAGTCCCA	0.423													T	110746270	C	T	110746270	3	4	4	1	0	0	0	0	1	0	0	0	14447	739	26	2	197	2	SLC22A16	6	110746270	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	198848	110746270	60368797	1688	3753											
SLC16A10	117247	broad.mit.edu	37	chr6	111527826	111527826	+	Frame_Shift_Del	DEL	A	A	-													aaatgaaagatttcaagatgAaaaaaataaagaggttgttc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:111527825_111527825GA>G	uc003pus.3	+	3	1148	c.973_973GA>G	c.(973-975)gaafs	p.E325fs	SLC16A10_uc003put.3_Frame_Shift_Del_p.E11fs	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	Homo sapiens solute carrier family 16, member 10 (aromatic amino acid transporter) (SLC16A10), mRNA.	325					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		ATTTCAAGATGAAAAAAATAA	0.393													-	111527826	A	-	111527826	7	5	4	1	0	1	0	1	0	0	0	0	14403	246	9	0	988	0	SLC16A10	6	111527826	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	781556	111527826	59587241	1689	3754											
REV3L	5980	broad.mit.edu	37	chr6	111694065	111694065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaaatcttcacaggccacGtctacaagttcaccatcagg	6	13	6	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:111694065G>A	uc003puy.4	-	12	5834	c.5493C>T	c.(5491-5493)gaC>gaT	p.D1831D	REV3L_uc003pux.4_Silent_p.D1753D|REV3L_uc003puz.4_Silent_p.D1753D	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1831					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CACAGGCCACGTCTACAAGTT	0.423								DNA polymerases (catalytic subunits)					A	111694065	G	A	111694065	2	1	4	1	0	0	0	0	0	0	0	1	13240	1136	40	1		1	REV3L	6	111694065	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	166239	111694065	59421002	1690	3755											
TUBE1	51175	broad.mit.edu	37	chr6	112397206	112397206	+	Frame_Shift_Del	DEL	T	T	-													caaagggcttcttatgctgcTtttttaaagccccagaactt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:112397205_112397205CT>C	uc003pvq.3	-	7	861	c.747_747AG>G	c.(745-747)aagfs	p.K249fs		NM_016262	NP_057346	Q9UJT0	TBE_HUMAN	Homo sapiens tubulin, epsilon 1 (TUBE1), mRNA.	249					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TCTTATGCTGCTTTTTTAAAG	0.388													-	112397206	T	-	112397206	7	5	4	1	0	1	0	1	0	0	0	0	16760	1609	56	0	701	0	TUBE1	6	112397206	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	703141	112397206	58717861	1691	3756											
LAMA4	3910	broad.mit.edu	37	chr6	112460964	112460964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctcttaccgggcacatgGcactgatgtggaggggtcca	14	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:112460964G>A	uc003pvu.2	-	22	3409	c.3100C>T	c.(3100-3102)Cca>Tca	p.P1034S	LAMA4_uc003pvv.2_Missense_Mutation_p.P1027S|LAMA4_uc003pvt.2_Missense_Mutation_p.P1027S	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	1034	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CGGGCACATGGCACTGATGTG	0.423													A	112460964	G	A	112460964	3	1	4	1	0	0	0	0	1	0	0	0	8608	1203	42	2	2439	2	LAMA4	6	112460964	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	63758	112460964	58654103	1692	3757											
LAMA4	3910	broad.mit.edu	37	chr6	112508790	112508790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcagtcaggtcccagacGcacttatcacagcctggagg	11	13	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:112508790G>A	uc003pvu.2	-	7	1137	c.828C>T	c.(826-828)tgC>tgT	p.C276C	LAMA4_uc003pvv.2_Silent_p.C269C|LAMA4_uc003pvt.2_Silent_p.C269C	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	276	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGTCCCAGACGCACTTATCAC	0.517													A	112508790	G	A	112508790	2	1	4	1	0	0	0	0	0	0	0	1	8608	1079	38	1		1	LAMA4	6	112508790	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	47826	112508790	58606277	1693	3758											
HDAC2	3066	broad.mit.edu	37	chr6	114266574	114266574	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctggtttgtcatgtttgaaGgactaatatgcagtttgaag	11	4	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:114266574G>T	uc003pwd.2	-	9	1330	c.1043C>A	c.(1042-1044)cCt>cAt	p.P348H	HDAC2_uc003pwc.2_Missense_Mutation_p.P318H|HDAC2_uc003pwe.2_Missense_Mutation_p.P318H	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	348					blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	ESC/E(Z) complex|NuRD complex|Sin3 complex|cytoplasm	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	CATGTTTGAAGGACTAATATG	0.279													T	114266574	G	T	114266574	3	4	4	1	0	0	0	0	1	0	0	0	7007	1000	35	5	443	5	HDAC2	6	114266574	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1757784	114266574	56848493	1694	3759											
HS3ST5	222537	broad.mit.edu	37	chr6	114379185	114379185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaccccaatgataatggCcttggggagctgctggacca	11	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:114379185C>T	uc003pwg.4	-	1	309	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Missense_Mutation_p.A93T	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.	93					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		ATGATAATGGCCTTGGGGAGC	0.557													T	114379185	C	T	114379185	3	4	4	1	0	0	0	0	1	0	0	0	7368	739	26	2	767	2	HS3ST5	6	114379185	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	112611	114379185	56735882	1695	3760											
HS3ST5	222537	broad.mit.edu	37	chr6	114379236	114379236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaacctgctccttggaagCgttgcccttccggaactcgt	11	14	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:114379236C>T	uc003pwg.4	-	1	258	c.226G>A	c.(226-228)Gct>Act	p.A76T	BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Missense_Mutation_p.A76T	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.	76					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TCCTTGGAAGCGTTGCCCTTC	0.592													T	114379236	C	T	114379236	3	4	4	1	0	0	0	0	1	0	0	0	7368	768	27	1	818	1	HS3ST5	6	114379236	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	51	114379236	56735831	1696	3761											
TSPYL4	23270	broad.mit.edu	37	chr6	116574209	116574209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaaagagacaccacccgGccagaggatctgcgttcata	12	11	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:116574209G>A	uc003pwn.3	-	0	1053	c.963C>T	c.(961-963)ggC>ggT	p.G321G	DSE_uc011ebf.1_5'Flank|DSE_uc003pwo.1_5'Flank	NM_021648	NP_067680	Q9UJ04	TSYL4_HUMAN	Homo sapiens TSPY-like 4 (TSPYL4), mRNA.	321					nucleosome assembly	nucleus				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		ACACCACCCGGCCAGAGGATC	0.537													A	116574209	G	A	116574209	2	1	4	1	0	0	0	0	0	0	0	1	16658	1190	42	2		2	TSPYL4	6	116574209	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2194973	116574209	54540858	1697	3762											
DSE	29940	broad.mit.edu	37	chr6	116757490	116757490	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctataaaatgtactggatggAcgatactggctacagcgaga	11	7	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:116757490A>G	uc011ebg.2	+	5	2015	c.1916A>G	c.(1915-1917)gAc>gGc	p.D639G	DSE_uc003pws.3_Missense_Mutation_p.D620G|DSE_uc003pwt.3_Missense_Mutation_p.D620G|DSE_uc003pwu.3_Missense_Mutation_p.D287G	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	620					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TACTGGATGGACGATACTGGC	0.473													G	116757490	A	G	116757490	3	3	4	1	0	0	0	0	1	0	0	0	4774	275	10	3	1877	3	DSE	6	116757490	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	183281	116757490	54357577	1698	3763											
KPNA5	3841	broad.mit.edu	37	chr6	117053387	117053389	+	In_Frame_Del	DEL	AGA	AGA	-													attgaacattactttggtgtAgaagaagatgaccccagcat							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:117053386_117053388TAGA>T	uc003pxh.3	+	13	1651_1653	c.1520_1522TAGA>T	c.(1519-1524)gtagaa>gTaa	p.E509del		NM_002269	NP_002260	O15131	IMA5_HUMAN	Homo sapiens karyopherin alpha 5 (importin alpha 6) (KPNA5), mRNA.	506					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TACTTTGGTGTAGAAGAAGATGA	0.374													-	117053389	AGA	-	117053387	7	5	4	1	0	1	0	1	0	0	0	0	8433	407	15	0	1575	0	KPNA5	6	117053387	In_Frame_Del	DEL	AGA	TCGA-BR-4184-01A-01D-1126-08	295897	117053387	54061680	1699	3764											
RFX6	222546	broad.mit.edu	37	chr6	117246695	117246695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagggagcatggtttccagCgacgctgtgaagaatgaaag	14	6	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:117246695C>T	uc003pxm.3	+	15	1821	c.1758C>T	c.(1756-1758)agC>agT	p.S586S		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	586					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGGTTTCCAGCGACGCTGTGA	0.512													T	117246695	C	T	117246695	2	4	4	1	0	0	0	0	0	0	0	1	13267	767	27	1		1	RFX6	6	117246695	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	193308	117246695	53868372	1700	3765											
RFX6	222546	broad.mit.edu	37	chr6	117250017	117250018	+	Frame_Shift_Ins	INS	-	-	C													cagcagcattcgttcactgcINSccccctacagtgacatccac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:117250016_117250017G>GC	uc003pxm.3	+	17	2556_2557	c.2493_2494G>GC	c.(2491-2496)ctgcccfs	p.L831fs		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	831					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTCGTTCACTGCCCCCCTACAG	0.455													C	117250018	-	C	117250017	7	5	4	1	0	1	1	0	0	0	0	0	13267	739	26	0	2564	0	RFX6	6	117250017	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	3322	117250017	53865050	1701	3766											
SLC35F1	222553	broad.mit.edu	37	chr6	118475668	118475668	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccttatttgtggaattggCttgactagcaagtatctgtc	9	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:118475668C>A	uc003pxx.4	+	1	435	c.234C>A	c.(232-234)ggC>ggA	p.G78G		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA.	78					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GTGGAATTGGCTTGACTAGCA	0.438													A	118475668	C	A	118475668	2	1	4	1	0	0	0	0	0	0	0	1	14588	784	28	5		5	SLC35F1	6	118475668	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1225651	118475668	52639399	1702	3767											
SLC35F1	222553	broad.mit.edu	37	chr6	118606424	118606424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcataaagaaaaccagtGccacttcagtcaacctctcc	5	14	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:118606424G>A	uc003pxx.4	+	6	1126	c.925G>A	c.(925-927)Gcc>Acc	p.A309T		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA.	309					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GAAAACCAGTGCCACTTCAGT	0.473											OREG0017635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	118606424	G	A	118606424	3	1	4	1	0	0	0	0	1	0	0	0	14588	1319	46	2	951	2	SLC35F1	6	118606424	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	130756	118606424	52508643	1703	3768											
MCM9	254394	broad.mit.edu	37	chr6	119238739	119238739	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaaacctgcaaagggatcGctcttatagtattcccaaaa	6	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:119238739G>A	uc021zeh.1	-	3	906	c.891C>T	c.(889-891)agC>agT	p.S297S	MCM9_uc003pyh.3_Silent_p.S297S	NM_017696	NP_060166	Q9NXL9	MCM9_HUMAN	Homo sapiens minichromosome maintenance complex component 9 (MCM9), transcript variant 1, mRNA.	297					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		CAAAGGGATCGCTCTTATAGT	0.353													A	119238739	G	A	119238739	2	1	4	1	0	0	0	0	0	0	0	1	9394	1078	38	1		1	MCM9	6	119238739	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	632315	119238739	51876328	1704	3769											
GJA1	2697	broad.mit.edu	37	chr6	121768421	121768421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacggtattgaagagcatgGtaaggtgaaaatgcgagggg	17	3	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:121768421G>A	uc003pyr.3	+	1	678	c.428G>A	c.(427-429)gGt>gAt	p.G143D	GJA1_uc011ebo.1_Missense_Mutation_p.G44D|GJA1_uc011ebp.1_Intron|GJA1_uc021zel.1_Missense_Mutation_p.G143D	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	143			G -> S (in SDTY3; dbSNP:rs28931600).		cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GAAGAGCATGGTAAGGTGAAA	0.458													A	121768421	G	A	121768421	3	1	4	1	0	0	0	0	1	0	0	0	6400	1261	44	4	430	4	GJA1	6	121768421	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2529682	121768421	49346646	1705	3770											
FABP7	2173	broad.mit.edu	37	chr6	123104893	123104893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgatgtggttgctgttcGccactatgagaaggcataaa	13	6	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:123104893G>A	uc003pzf.3	+	3	674	c.380G>A	c.(379-381)cGc>cAc	p.R127H	FABP7_uc003pze.1_3'UTR	NM_001446	NP_001437	O15540	FABP7_HUMAN	Homo sapiens fatty acid binding protein 7, brain (FABP7), mRNA.	127	Fatty acid binding.				negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity	p.R127H(2)		kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)|gamma-Homolinolenic acid(DB00154)	GTTGCTGTTCGCCACTATGAG	0.403													A	123104893	G	A	123104893	3	1	4	1	0	0	0	0	1	0	0	0	5362	1087	38	1	394	1	FABP7	6	123104893	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1336472	123104893	48010174	1706	3771											
RNF217	154214	broad.mit.edu	37	chr6	125379190	125379190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaggagacaaattgttgCgtcactgggccagcgaaatt	11	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:125379190C>T	uc003pzr.3	+	2	1048	c.514C>T	c.(514-516)Cgt>Tgt	p.R172C	RNF217_uc003pzs.3_Missense_Mutation_p.R115C|RNF217_uc003pzt.3_Non-coding_Transcript			Q8TC41	RN217_HUMAN	Homo sapiens ring finger protein 217 (RNF217), mRNA.	115					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		CAAATTGTTGCGTCACTGGGC	0.463													T	125379190	C	T	125379190	3	4	4	1	0	0	0	0	1	0	0	0	13481	768	27	1	353	1	RNF217	6	125379190	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2274297	125379190	45735877	1707	3772											
TPD52L1	7164	broad.mit.edu	37	chr6	125550412	125550412	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacatgcagactaccactgCgtaagtatcatatgaacagt	8	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:125550412C>T	uc003pzu.1	+	3	503	c.284_splice	c.e3+1	p.A95_splice	TPD52L1_uc003pzv.1_Splice_Site_p.A95_splice|TPD52L1_uc003pzw.1_Splice_Site_p.A95_splice|TPD52L1_uc003pzx.1_Splice_Site_p.A66_splice|TPD52L1_uc003pzy.1_Splice_Site_p.A66_splice|TPD52L1_uc003pzz.1_Splice_Site_p.A66_splice	NM_003287	NP_001003395	Q16890	TPD53_HUMAN	Homo sapiens tumor protein D52-like 1 (TPD52L1), transcript variant 1, mRNA.	95					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		ACTACCACTGCGTAAGTATCA	0.388													T	125550412	C	T	125550412	5	4	4	1	0	0	0	0	0	0	1	0	16395	782	27	1	294	1	TPD52L1	6	125550412	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	171222	125550412	45564655	1708	3773											
HEY2	23493	broad.mit.edu	37	chr6	126080924	126080924	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aataaaccttaccgaccctgGgggacagaagttggagcttt	11	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:126080924G>T	uc003qad.3	+	4	1181	c.990G>T	c.(988-990)tgG>tgT	p.W330C	HEY2_uc011ebr.2_Missense_Mutation_p.W284C	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.	330					Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	RNA polymerase II activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding	p.W330C(2)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		ACCGACCCTGGGGGACAGAAG	0.493													T	126080924	G	T	126080924	3	4	4	1	0	0	0	0	1	0	0	0	7079	1241	43	5	1008	5	HEY2	6	126080924	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	530512	126080924	45034143	1709	3774											
NCOA7	135112	broad.mit.edu	37	chr6	126249853	126249855	+	In_Frame_Del	DEL	ATG	ATG	-													ctcttgcagcactttcaataAtgatattctttccaaaaagg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:126249852_126249854AATG>A	uc003qai.3	+	15	3133_3135	c.2764_2766AATG>A	c.(2764-2766)aat>A	p.N922del	NCOA7_uc010kes.3_In_Frame_Del_p.N922del|NCOA7_uc003qae.4_In_Frame_Del_p.N922del|NCOA7_uc010ket.3_In_Frame_Del_p.N807del|NCOA7_uc003qah.3_In_Frame_Del_p.N911del|NCOA7_uc003qak.3_In_Frame_Del_p.N199del	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	Homo sapiens nuclear receptor coactivator 7 (NCOA7), transcript variant 1, mRNA.	922	TLD.				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CACTTTCAATAATGATATTCTTT	0.35													-	126249855	ATG	-	126249853	7	5	4	1	0	1	0	1	0	0	0	0	10234	101	4	0	2823	0	NCOA7	6	126249853	In_Frame_Del	DEL	ATG	TCGA-BR-4184-01A-01D-1126-08	168929	126249853	44865214	1710	3775											
KIAA0408	9729	broad.mit.edu	37	chr6	127767937	127767937	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatttcttggtgggattatcAggcacattttccatgggcac	11	8	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:127767937A>G	uc011ebs.2	-	4	1863	c.1527T>C	c.(1525-1527)ccT>ccC	p.P509P	KIAA0408_uc003qbc.3_Silent_p.P509P|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_Intron|KIAA0408_uc003qbb.3_Silent_p.P392P	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	509							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TGGGATTATCAGGCACATTTT	0.463													G	127767937	A	G	127767937	2	3	4	1	0	0	0	0	0	0	0	1	8174	175	7	3		3	KIAA0408	6	127767937	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1518084	127767937	43347130	1711	3776											
C6orf58	352999	broad.mit.edu	37	chr6	127911356	127911356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataagttccagaagggcatgCcaccacgaattcttcttaat	7	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:127911356C>T	uc003qbh.3	+	4	811	c.799C>T	c.(799-801)Cca>Tca	p.P267S		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.	267						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		GAAGGGCATGCCACCACGAAT	0.413													T	127911356	C	T	127911356	3	4	4	1	0	0	0	0	1	0	0	0	2367	739	26	2	817	2	C6orf58	6	127911356	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	143419	127911356	43203711	1712	3777											
THEMIS	387357	broad.mit.edu	37	chr6	128134568	128134568	+	Frame_Shift_Del	DEL	T	T	-													caggccagaacattcaccacTttttttattccctcacagag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:128134567_128134567CT>C	uc011ebt.2	-	3	1368	c.1219_1219AG>G	c.(1219-1221)gtgfs	p.V407fs	THEMIS_uc010kfa.3_Frame_Shift_Del_p.V310fs|THEMIS_uc021zfa.1_Frame_Shift_Del_p.V407fs|THEMIS_uc010kfb.3_Frame_Shift_Del_p.V372fs	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	407	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ACATTCACCACTTTTTTTATT	0.463													-	128134568	T	-	128134568	7	5	4	1	0	1	0	1	0	0	0	0	15857	1606	56	0	840	0	THEMIS	6	128134568	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	223212	128134568	42980499	1713	3778											
THEMIS	387357	broad.mit.edu	37	chr6	128134766	128134766	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggtcgccgcttgaacttGcctttatagctagtggggat	12	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:128134766G>A	uc011ebt.2	-	3	1169	c.1020C>T	c.(1018-1020)ggC>ggT	p.G340G	THEMIS_uc010kfa.3_Silent_p.G243G|THEMIS_uc021zfa.1_Silent_p.G340G|THEMIS_uc010kfb.3_Silent_p.G305G	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	340	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus		p.G340S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCTTGAACTTGCCTTTATAGC	0.463													A	128134766	G	A	128134766	2	1	4	1	0	0	0	0	0	0	0	1	15857	1306	46	2		2	THEMIS	6	128134766	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	198	128134766	42980301	1714	3779											
PTPRK	5796	broad.mit.edu	37	chr6	128505866	128505866	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggagcaatgggtcttggCggttctaggagagatgagtg	19	4	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:128505866C>T	uc003qbk.3	-	6	1240	c.873G>A	c.(871-873)ccG>ccA	p.P291P	PTPRK_uc010kfc.3_Silent_p.P291P|PTPRK_uc003qbj.3_Silent_p.P291P|PTPRK_uc011ebu.2_Silent_p.P291P|PTPRK_uc003qbl.1_Silent_p.P161P|PTPRK_uc011ebv.1_Silent_p.P291P	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	291	Fibronectin type-III 1.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGGGTCTTGGCGGTTCTAGGA	0.398													T	128505866	C	T	128505866	2	4	4	1	0	0	0	0	0	0	0	1	12805	755	27	1		1	PTPRK	6	128505866	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	371100	128505866	42609201	1715	3780											
LAMA2	3908	broad.mit.edu	37	chr6	129775324	129775324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttctggctatagaaatgCgtaaaggcaaagtcagcttc	9	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:129775324C>T	uc021zfb.1	+	46	6703	c.6598C>T	c.(6598-6600)Cgt>Tgt	p.R2200C	LAMA2_uc003qbn.3_Missense_Mutation_p.R2198C|LAMA2_uc003qbo.3_Missense_Mutation_p.R2198C	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2200	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TATAGAAATGCGTAAAGGCAA	0.398													T	129775324	C	T	129775324	3	4	4	1	0	0	0	0	1	0	0	0	8606	768	27	1	6784	1	LAMA2	6	129775324	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1269458	129775324	41339743	1716	3781											
L3MBTL3	84456	broad.mit.edu	37	chr6	130372535	130372535	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctattgcagccagaattgtgCtcggcacatcaaagataagt	9	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:130372535C>A	uc003qbt.3	+	5	607	c.431C>A	c.(430-432)gCt>gAt	p.A144D	L3MBTL3_uc003qbu.3_Missense_Mutation_p.A119D	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA.	144					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CAGAATTGTGCTCGGCACATC	0.408													A	130372535	C	A	130372535	3	1	4	1	0	0	0	0	1	0	0	0	8593	797	28	5	445	5	L3MBTL3	6	130372535	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	597211	130372535	40742532	1717	3782											
SAMD3	154075	broad.mit.edu	37	chr6	130465849	130465849	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggctgtaacacagtcgTccacctttgtgagcctctcc	8	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:130465849T>C	uc003qbw.3	-	11	1707	c.1379A>G	c.(1378-1380)gAc>gGc	p.D460G	SAMD3_uc003qbx.3_Missense_Mutation_p.D460G	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	460										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		AACACAGTCGTCCACCTTTGT	0.443													C	130465849	T	C	130465849	3	2	4	1	0	0	0	0	1	0	0	0	13820	1667	58	3	187	3	SAMD3	6	130465849	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	93314	130465849	40649218	1718	3783											
MED23	9439	broad.mit.edu	37	chr6	131921295	131921295	+	Frame_Shift_Del	DEL	A	A	-													tgaattgaatcagagcctgtAaaaaaatctaaacataaaca							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:131921294_131921294TA>T	uc003qcs.1	-	17	2278	c.2104_2104TA>A	c.(2104-2106)acafs	p.T702fs	MED23_uc003qcq.3_Frame_Shift_Del_p.T708fs|MED23_uc011eca.1_Frame_Shift_Del_p.T343fs|MED23_uc003qct.1_Frame_Shift_Del_p.T708fs	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	702					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TCAGAGCCTGTAAAAAAATCT	0.323													-	131921295	A	-	131921295	7	5	4	1	0	1	0	1	0	0	0	0	9441	359	13	0	2058	0	MED23	6	131921295	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	1455446	131921295	39193772	1719	3784											
TAAR6	319100	broad.mit.edu	37	chr6	132891588	132891588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagtgtttggctttggggCtgtgctggctgtgtttggaa	16	5	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:132891588C>T	uc011eck.2	+	0	128	c.128C>T	c.(127-129)gCt>gTt	p.A43V		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA.	43						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GGCTTTGGGGCTGTGCTGGCT	0.537													T	132891588	C	T	132891588	3	4	4	1	0	0	0	0	1	0	0	0	15489	797	28	2	130	2	TAAR6	6	132891588	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	970293	132891588	38223479	1720	3785											
TAAR5	9038	broad.mit.edu	37	chr6	132910431	132910431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacagatggcacagtggCggtcaatggaaatgaaacag	14	7	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:132910431C>T	uc003qdk.2	-	0	447	c.395G>A	c.(394-396)cGc>cAc	p.R132H		NM_003967	NP_003958	O14804	TAAR5_HUMAN	Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA.	132					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GGCACAGTGGCGGTCAATGGA	0.582													T	132910431	C	T	132910431	3	4	4	1	0	0	0	0	1	0	0	0	15488	768	27	1	622	1	TAAR5	6	132910431	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	18843	132910431	38204636	1721	3786											
TAAR5	9038	broad.mit.edu	37	chr6	132910625	132910625	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcaggaagttggtgggCgtgtgaagcgctttgaagta	17	5	0	2	rs145737701		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:132910625C>T	uc003qdk.2	-	0	253	c.201G>A	c.(199-201)acG>acA	p.T67T		NM_003967	NP_003958	O14804	TAAR5_HUMAN	Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA.	67					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		AGTTGGTGGGCGTGTGAAGCG	0.557													T	132910625	C	T	132910625	2	4	4	1	0	0	0	0	0	0	0	1	15488	755	27	1		1	TAAR5	6	132910625	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	194	132910625	38204442	1722	3787											
EYA4	2070	broad.mit.edu	37	chr6	133789774	133789774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcatcaacgtatggagCgtatatgacatcgaataaca	8	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:133789774C>T	uc011ecs.2	+	10	1191	c.875C>T	c.(874-876)gCg>gTg	p.A292V	EYA4_uc011ecq.2_Missense_Mutation_p.A238V|EYA4_uc011ecr.2_Missense_Mutation_p.A238V|EYA4_uc003qec.4_Missense_Mutation_p.A292V|EYA4_uc003qed.4_Missense_Mutation_p.A292V|EYA4_uc003qee.4_Missense_Mutation_p.A269V|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	292					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.A292A(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		ACGTATGGAGCGTATATGACA	0.433													T	133789774	C	T	133789774	3	4	4	1	0	0	0	0	1	0	0	0	5331	768	27	1	913	1	EYA4	6	133789774	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	879149	133789774	37325293	1723	3788											
SLC2A12	154091	broad.mit.edu	37	chr6	134350436	134350436	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcagaaagaatgccgatgAcaatcatcagctcattcagt	9	9	4	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:134350436A>G	uc003qem.1	-	1	698	c.527T>C	c.(526-528)gTc>gCc	p.V176A		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	176						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AATGCCGATGACAATCATCAG	0.438													G	134350436	A	G	134350436	3	3	4	1	0	0	0	0	1	0	0	0	14541	275	10	3	1342	3	SLC2A12	6	134350436	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	560662	134350436	36764631	1724	3789											
ALDH8A1	64577	broad.mit.edu	37	chr6	135271176	135271176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttccagcatcaaaagtgCgtttgttccagccatagcaa	8	10	1	0	rs150345681	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:135271176C>T	uc003qew.3	-	0	85	c.16G>A	c.(16-18)Gca>Aca	p.A6T	ALDH8A1_uc011ecx.2_Missense_Mutation_p.A6T|ALDH8A1_uc003qex.3_Missense_Mutation_p.A6T|ALDH8A1_uc010kgh.3_5'UTR	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	Homo sapiens aldehyde dehydrogenase 8 family, member A1 (ALDH8A1), transcript variant 1, mRNA.	6					retinal metabolic process	cytoplasm	retinal dehydrogenase activity	p.A6T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		ATCAAAAGTGCGTTTGTTCCA	0.448													T	135271176	C	T	135271176	3	4	4	1	0	0	0	0	1	0	0	0	505	768	27	1	1475	1	ALDH8A1	6	135271176	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	920740	135271176	35843891	1725	3790											
BCLAF1	9774	broad.mit.edu	37	chr6	136597397	136597397	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cggtgagatgcagtagcaaaActtttaccctgatctgcgag	11	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:136597397A>T	uc003qgx.1	-	4	1519	c.1266T>A	c.(1264-1266)agT>agA	p.S422R	BCLAF1_uc003qgy.1_Missense_Mutation_p.S420R|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.S420R|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	422					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CAGTAGCAAAACTTTTACCCT	0.423													T	136597397	A	T	136597397	3	4	4	1	0	0	0	0	1	0	0	0	1383	40	2	5	1532	5	BCLAF1	6	136597397	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1326221	136597397	34517670	1726	3791											
PEX7	5191	broad.mit.edu	37	chr6	137187847	137187847	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcaggcagaaatcttgagTtgtgactggtgtaaatacaa	10	6	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:137187847T>C	uc003qhd.3	+	5	711	c.609T>C	c.(607-609)agT>agC	p.S203S	PEX7_uc010kgx.3_Non-coding_Transcript	NM_000288	NP_000279	O00628	PEX7_HUMAN	Homo sapiens peroxisomal biogenesis factor 7 (PEX7), mRNA.	203					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		AAATCTTGAGTTGTGACTGGT	0.388													C	137187847	T	C	137187847	2	2	4	1	0	0	0	0	0	0	0	1	11751	1722	60	3		3	PEX7	6	137187847	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	590450	137187847	33927220	1727	3792											
IL20RA	53832	broad.mit.edu	37	chr6	137322948	137322948	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgatggctcttcctccggcCcctcctccgagtctgtgtgc	10	17	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:137322948C>A	uc003qhj.3	-	6	1842	c.1409G>T	c.(1408-1410)gGg>gTg	p.G470V	IL20RA_uc011edl.2_Missense_Mutation_p.G421V|IL20RA_uc003qhk.3_Missense_Mutation_p.G359V|IL20RA_uc003qhi.3_Missense_Mutation_p.G202V	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	470						integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TTCCTCCGGCCCCTCCTCCGA	0.607													A	137322948	C	A	137322948	3	1	4	1	0	0	0	0	1	0	0	0	7668	623	22	5	256	5	IL20RA	6	137322948	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	135101	137322948	33792119	1728	3793											
KIAA1244	57221	broad.mit.edu	37	chr6	138655785	138655785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcctcccatcttcaagggCgacccgttcttcatcctgcc	8	17	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:138655785C>T	uc003qhu.3	+	32	5973	c.5802C>T	c.(5800-5802)ggC>ggT	p.G1934G		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1934					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.G1863G(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCTTCAAGGGCGACCCGTTCT	0.562													T	138655785	C	T	138655785	2	4	4	1	0	0	0	0	0	0	0	1	8217	755	27	1		1	KIAA1244	6	138655785	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1332837	138655785	32459282	1729	3794											
REPS1	85021	broad.mit.edu	37	chr6	139234053	139234053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgagttatgaggccatcgGcatccactgggcgatgcaca	13	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:139234053G>A	uc003qii.3	-	15	2399	c.1820C>T	c.(1819-1821)gCc>gTc	p.A607V	REPS1_uc003qig.4_Missense_Mutation_p.A580V|REPS1_uc011edr.2_Missense_Mutation_p.A606V|REPS1_uc003qij.3_Missense_Mutation_p.A516V|REPS1_uc003qik.3_Missense_Mutation_p.A213V	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	607						coated pit|plasma membrane	SH3 domain binding|calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GAGGCCATCGGCATCCACTGG	0.468													A	139234053	G	A	139234053	3	1	4	1	0	0	0	0	1	0	0	0	13228	1203	42	2	590	2	REPS1	6	139234053	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	578268	139234053	31881014	1730	3795											
HECA	51696	broad.mit.edu	37	chr6	139495646	139495646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcactatgtacacctaCgacatcctggctgcctctcc	8	16	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:139495646C>T	uc003qin.3	+	2	1722	c.1437C>T	c.(1435-1437)taC>taT	p.Y479Y		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	479					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TGTACACCTACGACATCCTGG	0.537													T	139495646	C	T	139495646	2	4	4	1	0	0	0	0	0	0	0	1	7038	547	19	1		1	HECA	6	139495646	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	261593	139495646	31619421	1731	3796											
TXLNB	167838	broad.mit.edu	37	chr6	139563913	139563913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctctggcttccaggacGcctgatcagcctgtgctcca	10	16	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:139563913G>A	uc021zfy.1	-	9	1970	c.1805C>T	c.(1804-1806)gCg>gTg	p.A602V		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	602			A -> P (in dbSNP:rs9495391).			cytoplasm		p.A602A(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTTCCAGGACGCCTGATCAGC	0.612													A	139563913	G	A	139563913	3	1	4	1	0	0	0	0	1	0	0	0	16785	1087	38	1	253	1	TXLNB	6	139563913	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	68267	139563913	31551154	1732	3797											
TXLNB	167838	broad.mit.edu	37	chr6	139564109	139564109	+	Missense_Mutation	SNP	C	C	T													ttgctctggctccttgagagCggcgtcagcactctcctgag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:139564109C>T	uc021zfy.1	-	9	1774	c.1609G>A	c.(1609-1611)Gct>Act	p.A537T		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	537						cytoplasm		p.A536T(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TCCTTGAGAGCGGCGTCAGCA	0.567													T	139564109	C	T	139564109	3	4	4	1	0	0	0	0	1	0	0	0	16785	768	27	1	449	1	TXLNB	6	139564109	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	196	139564109	31550958	1733	3798	7	2									
TXLNB	167838	broad.mit.edu	37	chr6	139564112	139564112	+	Missense_Mutation	SNP	C	C	T													ctctggctccttgagagcggCgtcagcactctcctgagaac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:139564112C>T	uc021zfy.1	-	9	1771	c.1606G>A	c.(1606-1608)Gcc>Acc	p.A536T		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	536						cytoplasm		p.A536T(2)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TTGAGAGCGGCGTCAGCACTC	0.567													T	139564112	C	T	139564112	3	4	4	1	0	0	0	0	1	0	0	0	16785	768	27	1	452	1	TXLNB	6	139564112	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3	139564112	31550955	1734	3799	7	2									
VTA1	51534	broad.mit.edu	37	chr6	142539701	142539701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaaatatgctggcagtgCtttgcagtatgaagatgtaa	11	6	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:142539701C>T	uc003qiw.3	+	7	860	c.845C>T	c.(844-846)gCt>gTt	p.A282V	VTA1_uc011edu.2_Missense_Mutation_p.A197V	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN	Homo sapiens Vps20-associated 1 homolog (S. cerevisiae) (VTA1), mRNA.	282	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		GCTGGCAGTGCTTTGCAGTAT	0.428													T	142539701	C	T	142539701	3	4	4	1	0	0	0	0	1	0	0	0	17230	797	28	2	875	2	VTA1	6	142539701	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2975589	142539701	28575366	1735	3800											
VTA1	51534	broad.mit.edu	37	chr6	142539749	142539749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccagaatctacaaaaggCtctcaagttactgacgacag	8	10	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:142539749C>T	uc003qiw.3	+	7	908	c.893C>T	c.(892-894)gCt>gTt	p.A298V	VTA1_uc011edu.2_Missense_Mutation_p.A213V	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN	Homo sapiens Vps20-associated 1 homolog (S. cerevisiae) (VTA1), mRNA.	298	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CTACAAAAGGCTCTCAAGTTA	0.443													T	142539749	C	T	142539749	3	4	4	1	0	0	0	0	1	0	0	0	17230	797	28	2	923	2	VTA1	6	142539749	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	48	142539749	28575318	1736	3801											
GPR126	57211	broad.mit.edu	37	chr6	142758632	142758632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcagaaacagtggcggcaGcatctctgctgtggtagatt	13	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:142758632G>A	uc010khe.3	+	22	3792	c.3381G>A	c.(3379-3381)caG>caA	p.Q1127Q	GPR126_uc010khc.3_Silent_p.Q1127Q|GPR126_uc010khd.3_Silent_p.Q1099Q|GPR126_uc010khf.3_Silent_p.Q1099Q|GPR126_uc011edv.2_Silent_p.Q187Q	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	1127			Q -> R (in dbSNP:rs1262686).		neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AGTGGCGGCAGCATCTCTGCT	0.363													A	142758632	G	A	142758632	2	1	4	1	0	0	0	0	0	0	0	1	6640	962	34	2		2	GPR126	6	142758632	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	218883	142758632	28356435	1737	3802											
HIVEP2	3097	broad.mit.edu	37	chr6	143092794	143092794	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctctgatgagcagcgtcGcatctctttctggtggtgat	12	10	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:143092794G>A	uc003qjd.3	-	4	3825	c.3082C>T	c.(3082-3084)Cga>Tga	p.R1028*		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1028					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R1028*(2)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAGCAGCGTCGCATCTCTTTC	0.507													A	143092794	G	A	143092794	4	1	4	1	0	0	0	0	0	1	0	0	7187	1095	38	1	4282	1	HIVEP2	6	143092794	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	334162	143092794	28022273	1738	3803											
HIVEP2	3097	broad.mit.edu	37	chr6	143093770	143093770	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcctcttcatcccctacGctcttctctttccggcgttt	6	16	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:143093770G>A	uc003qjd.3	-	4	2849	c.2106C>T	c.(2104-2106)agC>agT	p.S702S		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	702					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K701E(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CATCCCCTACGCTCTTCTCTT	0.512													A	143093770	G	A	143093770	2	1	4	1	0	0	0	0	0	0	0	1	7187	1078	38	1		1	HIVEP2	6	143093770	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	976	143093770	28021297	1739	3804											
AIG1	51390	broad.mit.edu	37	chr6	143382137	143382137	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctatcctgtgtaactacaaGgccatcgaaatgccctcaca	6	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:143382137G>T	uc003qjh.3	+	0	115	c.75G>T	c.(73-75)aaG>aaT	p.K25N	AIG1_uc003qjf.3_Missense_Mutation_p.K15N|AIG1_uc003qji.3_Missense_Mutation_p.K15N|AIG1_uc011edw.1_Missense_Mutation_p.K25N|AIG1_uc003qjg.3_Missense_Mutation_p.K25N	NM_016108	NP_057192	Q9NVV5	AIG1_HUMAN	Homo sapiens androgen-induced 1 (AIG1), mRNA.	25						integral to membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		GTAACTACAAGGCCATCGAAA	0.602													T	143382137	G	T	143382137	3	4	4	1	0	0	0	0	1	0	0	0	429	991	35	5	77	5	AIG1	6	143382137	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	288367	143382137	27732930	1740	3805											
UTRN	7402	broad.mit.edu	37	chr6	144613000	144613000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacatgaagccagtcctgaCaatgggcagaacgaattcag	11	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:144613000C>T	uc003qkt.3	+	0	128	c.36C>T	c.(34-36)gaC>gaT	p.D12D	UTRN_uc010khq.1_Silent_p.D12D	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	12	Actin-binding.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.P11H(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCAGTCCTGACAATGGGCAGA	0.388													T	144613000	C	T	144613000	2	4	4	1	0	0	0	0	0	0	0	1	17100	477	17	4		4	UTRN	6	144613000	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1230863	144613000	26502067	1741	3806											
EPM2A	7957	broad.mit.edu	37	chr6	145948764	145948764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgttgcagtgcacgtacaCgatgtgtcccttctccagca	10	13	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:145948764C>T	uc003qkw.3	-	3	1141	c.784G>A	c.(784-786)Gtg>Atg	p.V262M	EPM2A_uc003qkv.3_Missense_Mutation_p.V262M|EPM2A_uc010khr.3_Missense_Mutation_p.R181H|EPM2A_uc003qkx.3_Missense_Mutation_p.V124M|EPM2A_uc003qku.3_Missense_Mutation_p.V108M	NM_005670	NP_005661	O95278	EPM2A_HUMAN	Homo sapiens epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) (EPM2A), transcript variant 1, mRNA.	262	Tyrosine-protein phosphatase.				glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		TGCACGTACACGATGTGTCCC	0.607													T	145948764	C	T	145948764	3	4	4	1	0	0	0	0	1	0	0	0	5183	536	19	1	249	1	EPM2A	6	145948764	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1335764	145948764	25166303	1742	3807											
GRM1	2911	broad.mit.edu	37	chr6	146720226	146720226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaaccaatcgtattgcacGcatcctggctggcagcaaga	9	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:146720226G>A	uc010khw.1	+	7	2521	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H	GRM1_uc010khv.1_Missense_Mutation_p.R684H|GRM1_uc003qll.2_Missense_Mutation_p.R684H|GRM1_uc011edz.1_Missense_Mutation_p.R684H|GRM1_uc011eea.1_Missense_Mutation_p.R684H	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	684					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R684C(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CGTATTGCACGCATCCTGGCT	0.522													A	146720226	G	A	146720226	3	1	4	1	0	0	0	0	1	0	0	0	6796	1087	38	1	2077	1	GRM1	6	146720226	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	771462	146720226	24394841	1743	3808											
GRM1	2911	broad.mit.edu	37	chr6	146720492	146720492	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtacctactatgccttcAagacccgcaacgtgcccgcc	8	17	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:146720492A>G	uc010khw.1	+	7	2787	c.2317A>G	c.(2317-2319)Aag>Gag	p.K773E	GRM1_uc010khv.1_Missense_Mutation_p.K773E|GRM1_uc003qll.2_Missense_Mutation_p.K773E|GRM1_uc011edz.1_Missense_Mutation_p.K773E|GRM1_uc011eea.1_Missense_Mutation_p.K773E	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	773					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CTATGCCTTCAAGACCCGCAA	0.502													G	146720492	A	G	146720492	3	3	4	1	0	0	0	0	1	0	0	0	6796	131	5	3	2343	3	GRM1	6	146720492	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	266	146720492	24394575	1744	3809											
SASH1	23328	broad.mit.edu	37	chr6	148808836	148808836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttacccaacgtttgatggCtcatcaaactgcaatgtgag	8	10	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:148808836C>T	uc003qme.1	+	7	1189	c.714C>T	c.(712-714)ggC>ggT	p.G238G		NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	238							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CGTTTGATGGCTCATCAAACT	0.478													T	148808836	C	T	148808836	2	4	4	1	0	0	0	0	0	0	0	1	13848	784	28	2		2	SASH1	6	148808836	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2088344	148808836	22306231	1745	3810											
SASH1	23328	broad.mit.edu	37	chr6	148869651	148869651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataagaaagctcctatctgCagccagactcttcaaactgc	6	13	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:148869651C>T	uc003qme.1	+	19	4176	c.3701C>T	c.(3700-3702)gCa>gTa	p.A1234V	SASH1_uc003qmf.1_Missense_Mutation_p.A644V	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	1234	SAM 2.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CTCCTATCTGCAGCCAGACTC	0.572													T	148869651	C	T	148869651	3	4	4	1	0	0	0	0	1	0	0	0	13848	710	25	2	3779	2	SASH1	6	148869651	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	60815	148869651	22245416	1746	3811											
PCMT1	5110	broad.mit.edu	37	chr6	150111190	150111190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttactgcatgttttgcacGtatggtaagagttttatttc	8	7	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:150111190G>A	uc003qna.3	+	3	500	c.467G>A	c.(466-468)cGt>cAt	p.R156H	PCMT1_uc003qnb.3_Missense_Mutation_p.R156H|PCMT1_uc003qne.3_Missense_Mutation_p.R156H|PCMT1_uc011eeg.2_Missense_Mutation_p.R121H|PCMT1_uc003qnd.3_Intron|PCMT1_uc003qnf.3_Intron	NM_001252053	NP_001238982			Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase (PCMT1), transcript variant 6, mRNA.											kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		TGTTTTGCACGTATGGTAAGA	0.363													A	150111190	G	A	150111190	3	1	4	1	0	0	0	0	1	0	0	0	11585	1145	40	1	481	1	PCMT1	6	150111190	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1241539	150111190	21003877	1747	3812											
LRP11	84918	broad.mit.edu	37	chr6	150174287	150174287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccttgctaagtggaggcGcatccttttctgagaaagaa	11	9	1	2	rs150922217	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:150174287G>A	uc003qng.2	-	1	947	c.623C>T	c.(622-624)gCg>gTg	p.A208V	LRP11_uc003qnh.1_Missense_Mutation_p.A208V	NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 11 (LRP11), mRNA.	208						integral to membrane	receptor activity			cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		AAGTGGAGGCGCATCCTTTTC	0.438													A	150174287	G	A	150174287	3	1	4	1	0	0	0	0	1	0	0	0	8953	1087	38	1	903	1	LRP11	6	150174287	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	63097	150174287	20940780	1748	3813											
RAET1L	154064	broad.mit.edu	37	chr6	150342136	150342136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtaatggaaggacatgGccacatccttgtcattctcc	9	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:150342136G>A	uc011eei.2	-	2	597	c.536C>T	c.(535-537)gCc>gTc	p.A179V		NM_130900	NP_570970	Q5VY80	RET1L_HUMAN	Homo sapiens retinoic acid early transcript 1L (RAET1L), mRNA.	179	MHC class I alpha-2 like (By similarity).				antigen processing and presentation|immune response	MHC class I protein complex|anchored to membrane				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		GAAGGACATGGCCACATCCTT	0.493													A	150342136	G	A	150342136	3	1	4	1	0	0	0	0	1	0	0	0	13001	1203	42	2	211	2	RAET1L	6	150342136	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	167849	150342136	20772931	1749	3814											
PLEKHG1	57480	broad.mit.edu	37	chr6	151054969	151054969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggataaggaggtaggggCcataaaactggagctgattc	14	7	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:151054969C>T	uc011eem.1	+	1	417	c.329C>T	c.(328-330)gCc>gTc	p.A110V	PLEKHG1_uc011eel.1_Missense_Mutation_p.A91V|PLEKHG1_uc003qny.1_Missense_Mutation_p.A51V|PLEKHG1_uc003qnz.2_Missense_Mutation_p.A51V	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	51					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GAGGTAGGGGCCATAAAACTG	0.572													T	151054969	C	T	151054969	3	4	4	1	0	0	0	0	1	0	0	0	12068	739	26	2	154	2	PLEKHG1	6	151054969	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	712833	151054969	20060098	1750	3815											
PLEKHG1	57480	broad.mit.edu	37	chr6	151130348	151130348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagccaagaatgagcggacGctcttcctcttcgacaagct	10	13	2	2	rs147935723	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:151130348G>A	uc011eem.1	+	7	1285	c.1197G>A	c.(1195-1197)acG>acA	p.T399T	PLEKHG1_uc011eel.1_Silent_p.T380T|PLEKHG1_uc003qny.1_Silent_p.T340T|PLEKHG1_uc003qnz.2_Silent_p.T340T	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	340	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATGAGCGGACGCTCTTCCTCT	0.552													A	151130348	G	A	151130348	2	1	4	1	0	0	0	0	0	0	0	1	12068	1074	38	1		1	PLEKHG1	6	151130348	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	75379	151130348	19984719	1751	3816											
PLEKHG1	57480	broad.mit.edu	37	chr6	151152440	151152440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcatccagccaaagcacGcatgaactccaagcggttga	11	12	0	2	rs149258837		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:151152440G>A	uc011eem.1	+	14	2458	c.2370G>A	c.(2368-2370)acG>acA	p.T790T	PLEKHG1_uc011eel.1_Silent_p.T771T|PLEKHG1_uc003qny.1_Silent_p.T731T|PLEKHG1_uc003qnz.2_Silent_p.T731T	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	731					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCCAAAGCACGCATGAACTCC	0.537													A	151152440	G	A	151152440	2	1	4	1	0	0	0	0	0	0	0	1	12068	1074	38	1		1	PLEKHG1	6	151152440	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	22092	151152440	19962627	1752	3817											
AKAP12	9590	broad.mit.edu	37	chr6	151671215	151671215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaggaggagcaaaagggCgagagctctgcctcatcccc	13	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:151671215C>T	uc011eep.2	+	3	1929	c.1689C>T	c.(1687-1689)ggC>ggT	p.G563G	AKAP12_uc003qoe.3_Silent_p.G563G|AKAP12_uc003qof.3_Silent_p.G465G|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Silent_p.G458G	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	563					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGCAAAAGGGCGAGAGCTCTG	0.572													T	151671215	C	T	151671215	2	4	4	1	0	0	0	0	0	0	0	1	448	755	27	1		1	AKAP12	6	151671215	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	518775	151671215	19443852	1753	3818											
AKAP12	9590	broad.mit.edu	37	chr6	151671867	151671867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaagctggaagagaaaagcGaagactccatagctgggtct	12	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:151671867G>A	uc011eep.2	+	3	2581	c.2341G>A	c.(2341-2343)Gaa>Aaa	p.E781K	AKAP12_uc003qoe.3_Missense_Mutation_p.E781K|AKAP12_uc003qof.3_Missense_Mutation_p.E683K|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Missense_Mutation_p.E676K	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	781	AKAP 2.				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGAGAAAAGCGAAGACTCCAT	0.478													A	151671867	G	A	151671867	3	1	4	1	0	0	0	0	1	0	0	0	448	1059	37	1	2380	1	AKAP12	6	151671867	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	652	151671867	19443200	1754	3819											
ZBTB2	57621	broad.mit.edu	37	chr6	151687601	151687601	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagttctggagacagcgaGgtctgcagggggtctgaggg	18	7	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:151687601G>A	uc003qoh.3	-	2	735	c.600C>T	c.(598-600)acC>acT	p.T200T		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	Homo sapiens zinc finger and BTB domain containing 2 (ZBTB2), mRNA.	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GAGACAGCGAGGTCTGCAGGG	0.597													A	151687601	G	A	151687601	2	1	4	1	0	0	0	0	0	0	0	1	17525	987	35	4		4	ZBTB2	6	151687601	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	15734	151687601	19427466	1755	3820											
ESR1	2099	broad.mit.edu	37	chr6	152201884	152201884	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccggctccgtaaatgctaCgaagtgggaatgatgaaagg	14	7	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:152201884C>T	uc010kio.3	+	3	962	c.744C>T	c.(742-744)taC>taT	p.Y248Y	ESR1_uc003qom.4_Silent_p.Y246Y|ESR1_uc010kin.3_Silent_p.Y246Y|ESR1_uc010kip.3_Silent_p.Y246Y|ESR1_uc003qon.4_Silent_p.Y246Y|ESR1_uc010kir.3_Intron|ESR1_uc003qoo.4_Silent_p.Y246Y|ESR1_uc010kiq.3_Nonsense_Mutation_p.R3*|ESR1_uc021zgz.1_Intron|ESR1_uc011eeu.2_Non-coding_Transcript|ESR1_uc011eev.2_Intron|ESR1_uc011eew.2_Intron|ESR1_uc011eet.2_Intron|ESR1_uc010kis.3_Silent_p.Y73Y|ESR1_uc021zha.1_Intron|ESR1_uc011eex.2_Silent_p.Y27Y	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	246	Mediates interaction with DNTTIP2.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	p.E247K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	GTAAATGCTACGAAGTGGGAA	0.537													T	152201884	C	T	152201884	2	4	4	1	0	0	0	0	0	0	0	1	5256	547	19	1		1	ESR1	6	152201884	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	514283	152201884	18913183	1756	3821											
SYNE1	23345	broad.mit.edu	37	chr6	152631593	152631593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggagaagtcagtgttgCctgggcttgctccaaggcag	14	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:152631593C>T	uc021zhb.1	-	86	17180	c.16957G>A	c.(16957-16959)Gca>Aca	p.A5653T	SYNE1_uc003qos.4_Missense_Mutation_p.A177T|SYNE1_uc003qot.4_Missense_Mutation_p.A5582T|SYNE1_uc003qou.4_Missense_Mutation_p.A5653T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5653					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTCAGTGTTGCCTGGGCTTGC	0.433										HNSCC(10;0.0054)			T	152631593	C	T	152631593	3	4	4	1	0	0	0	0	1	0	0	0	15442	739	26	2	9741	2	SYNE1	6	152631593	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	429709	152631593	18483474	1757	3822											
SYNE1	23345	broad.mit.edu	37	chr6	152631641	152631641	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttttcaactctgcttcaaAttttttcatatcctagagag	4	9	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:152631641A>T	uc021zhb.1	-	86	17132	c.16909T>A	c.(16909-16911)Ttt>Att	p.F5637I	SYNE1_uc003qos.4_Missense_Mutation_p.F161I|SYNE1_uc003qot.4_Missense_Mutation_p.F5566I|SYNE1_uc003qou.4_Missense_Mutation_p.F5637I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5637					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGCTTCAAATTTTTTCATA	0.428										HNSCC(10;0.0054)			T	152631641	A	T	152631641	3	4	4	1	0	0	0	0	1	0	0	0	15442	101	4	5	9789	5	SYNE1	6	152631641	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	48	152631641	18483426	1758	3823											
SYNE1	23345	broad.mit.edu	37	chr6	152631934	152631934	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttttctgtacagtacacGctagtgaggtactgtaattt	8	6	1	1	rs142010074		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:152631934G>A	uc021zhb.1	-	85	17008	c.16785C>T	c.(16783-16785)agC>agT	p.S5595S	SYNE1_uc003qos.4_Silent_p.S119S|SYNE1_uc003qot.4_Silent_p.S5524S|SYNE1_uc003qou.4_Silent_p.S5595S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5595					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TACAGTACACGCTAGTGAGGT	0.433										HNSCC(10;0.0054)			A	152631934	G	A	152631934	2	1	4	1	0	0	0	0	0	0	0	1	15442	1078	38	1		1	SYNE1	6	152631934	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	293	152631934	18483133	1759	3824											
SYNE1	23345	broad.mit.edu	37	chr6	152652833	152652833	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttccttttaatgaggtcCtcaagctgaaaccaacgttg	7	9	1	2	rs140361556	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:152652833C>T	uc021zhb.1	-	75	13210	c.12987G>A	c.(12985-12987)gaG>gaA	p.E4329E	SYNE1_uc003qot.4_Silent_p.E4258E|SYNE1_uc003qou.4_Silent_p.E4329E|SYNE1_uc010kiz.3_Silent_p.E84E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4329					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAATGAGGTCCTCAAGCTGAA	0.418										HNSCC(10;0.0054)			T	152652833	C	T	152652833	2	4	4	1	0	0	0	0	0	0	0	1	15442	680	24	4		4	SYNE1	6	152652833	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	20899	152652833	18462234	1760	3825											
SYNE1	23345	broad.mit.edu	37	chr6	152746516	152746516	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttatcttttagaaccaacCttttgttaatgatctgtggt	6	6	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:152746516C>T	uc021zhb.1	-	37	5490	c.5267_splice	c.e37+1	p.R1756_splice	SYNE1_uc003qot.4_Splice_Site_p.R1763_splice|SYNE1_uc003qou.4_Splice_Site_p.R1756_splice|SYNE1_uc010kjb.1_Splice_Site_p.R1739_splice	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1756					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAGAACCAACCTTTTGTTAAT	0.299										HNSCC(10;0.0054)			T	152746516	C	T	152746516	5	4	4	1	0	0	0	0	0	0	1	0	15442	695	24	4	21631	4	SYNE1	6	152746516	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	93683	152746516	18368551	1761	3826											
SYNE1	23345	broad.mit.edu	37	chr6	152841620	152841620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcgaggaacttgagtgCcgtgccaatgttagccacag	11	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:152841620C>T	uc021zhb.1	-	3	506	c.283G>A	c.(283-285)Gca>Aca	p.A95T	SYNE1_uc003qot.4_Missense_Mutation_p.A95T|SYNE1_uc003qou.4_Missense_Mutation_p.A95T|SYNE1_uc010kjb.1_Missense_Mutation_p.A95T|SYNE1_uc003qpa.1_Missense_Mutation_p.A95T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	95	Actin-binding.|CH 1.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACTTGAGTGCCGTGCCAATG	0.443										HNSCC(10;0.0054)			T	152841620	C	T	152841620	3	4	4	1	0	0	0	0	1	0	0	0	15442	739	26	2	26772	2	SYNE1	6	152841620	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	95104	152841620	18273447	1762	3827											
FBXO5	26271	broad.mit.edu	37	chr6	153293482	153293482	+	Frame_Shift_Del	DEL	T	T	-													gataacttggtttgagcatcTtttttgagagaagtctgggc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:153293481_153293481CT>C	uc003qpg.3	-	3	1127	c.1018_1018AG>G	c.(1018-1020)gatfs	p.D340fs	FBXO5_uc003qph.3_Frame_Shift_Del_p.D294fs	NM_012177	NP_001135994	Q9UKT4	FBX5_HUMAN	Homo sapiens F-box protein 5 (FBXO5), transcript variant 1, mRNA.	340					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding	p.D340fs*30(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		GTTTGAGCATCTTTTTTGAGA	0.368													-	153293482	T	-	153293482	7	5	4	1	0	1	0	1	0	0	0	0	5758	1606	56	0	334	0	FBXO5	6	153293482	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	451862	153293482	17821585	1763	3828											
FBXO5	26271	broad.mit.edu	37	chr6	153296153	153296153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctaggcccatttttctgCcaattatattctgcagtcta	5	10	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:153296153C>T	uc003qpg.3	-	1	816	c.707G>A	c.(706-708)gGc>gAc	p.G236D	FBXO5_uc003qph.3_Missense_Mutation_p.G190D	NM_012177	NP_001135994	Q9UKT4	FBX5_HUMAN	Homo sapiens F-box protein 5 (FBXO5), transcript variant 1, mRNA.	236	Interaction with EVI5.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		CATTTTTCTGCCAATTATATT	0.378													T	153296153	C	T	153296153	3	4	4	1	0	0	0	0	1	0	0	0	5758	739	26	2	652	2	FBXO5	6	153296153	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2671	153296153	17818914	1764	3829											
CNKSR3	154043	broad.mit.edu	37	chr6	154481030	154481030	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggggggtgtcatcagtgTcatcaggggcaggcgaagcc	17	10	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:154481030T>C	uc021zhc.1	-	21	3138	c.2633A>G	c.(2632-2634)gAc>gGc	p.D878G	OPRM1_uc003qpt.1_Intron|CNKSR3_uc003qpv.3_Missense_Mutation_p.D287G|CNKSR3_uc003qpw.3_Missense_Mutation_p.D417G|CNKSR3_uc003qpx.3_Missense_Mutation_p.D416G|CNKSR3_uc010kjh.3_Missense_Mutation_p.D417G	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	0					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GTCATCAGTGTCATCAGGGGC	0.483													C	154481030	T	C	154481030	3	2	4	1	0	0	0	0	1	0	0	0	3608	1667	58	3		3	CNKSR3	6	154481030	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1184877	154481030	16634037	1765	3830											
CNKSR3	154043	broad.mit.edu	37	chr6	154481146	154481146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgggtcatccagcaactgGttaatcatggccagatcatg	10	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:154481146G>A	uc021zhc.1	-	21	3022	c.2517C>T	c.(2515-2517)aaC>aaT	p.N839N	OPRM1_uc003qpt.1_Intron|CNKSR3_uc003qpv.3_Silent_p.N248N|CNKSR3_uc003qpw.3_Silent_p.N378N|CNKSR3_uc003qpx.3_Silent_p.N377N|CNKSR3_uc010kjh.3_Silent_p.N378N	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	0					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CCAGCAACTGGTTAATCATGG	0.453													A	154481146	G	A	154481146	2	1	4	1	0	0	0	0	0	0	0	1	3608	1252	44	4		4	CNKSR3	6	154481146	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	116	154481146	16633921	1766	3831											
TIAM2	26230	broad.mit.edu	37	chr6	155469392	155469392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaagatagacatggacaGcaagatgaagaagatggcag	13	5	1	7			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:155469392G>A	uc003qqb.3	+	8	3225	c.1952G>A	c.(1951-1953)aGc>aAc	p.S651N	TIAM2_uc003qqe.3_Missense_Mutation_p.S651N|TIAM2_uc010kjj.3_Missense_Mutation_p.S184N|TIAM2_uc003qqf.3_Missense_Mutation_p.S3N|TIAM2_uc011efl.1_5'Flank|TIAM2_uc003qqg.3_5'Flank	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	651					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	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GACATGGACAGCAAGATGAAG	0.498													A	155469392	G	A	155469392	3	1	4	1	0	0	0	0	1	0	0	0	15888	971	34	2	1966	2	TIAM2	6	155469392	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	988246	155469392	15645675	1767	3832											
TIAM2	26230	broad.mit.edu	37	chr6	155532392	155532392	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaggagtcagacagatgGcactctggatcaggtttccc	12	9	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:155532392G>T	uc003qqb.3	+	16	4392	c.3119G>T	c.(3118-3120)gGc>gTc	p.G1040V	TIAM2_uc003qqe.3_Missense_Mutation_p.G1040V|TIAM2_uc010kjj.3_Missense_Mutation_p.G573V|TIAM2_uc003qqf.3_Missense_Mutation_p.G416V|TIAM2_uc011efl.1_Missense_Mutation_p.G376V|TIAM2_uc003qqg.3_Missense_Mutation_p.G352V	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1040					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	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAGACAGATGGCACTCTGGAT	0.453													T	155532392	G	T	155532392	3	4	4	1	0	0	0	0	1	0	0	0	15888	1203	42	5	3165	5	TIAM2	6	155532392	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	63000	155532392	15582675	1768	3833											
TIAM2	26230	broad.mit.edu	37	chr6	155561791	155561791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctgtctgatgcagaccGcctccgcaaagtcatccagg	9	16	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:155561791G>A	uc003qqb.3	+	17	4569	c.3296G>A	c.(3295-3297)cGc>cAc	p.R1099H	TIAM2_uc003qqe.3_Missense_Mutation_p.R1099H|TIAM2_uc010kjj.3_Missense_Mutation_p.R632H|TIAM2_uc003qqf.3_Missense_Mutation_p.R475H|TIAM2_uc011efl.1_Missense_Mutation_p.R435H|TIAM2_uc003qqg.3_Missense_Mutation_p.R411H|TIAM2_uc003qqh.3_Missense_Mutation_p.R24H	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1099	DH.				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	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GATGCAGACCGCCTCCGCAAA	0.557													A	155561791	G	A	155561791	3	1	4	1	0	0	0	0	1	0	0	0	15888	1087	38	1	3346	1	TIAM2	6	155561791	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	29399	155561791	15553276	1769	3834											
TIAM2	26230	broad.mit.edu	37	chr6	155577914	155577914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagccctactaaagacatcGaaattcagttccagagactg	8	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:155577914G>A	uc003qqb.3	+	28	6038	c.4765G>A	c.(4765-4767)Gaa>Aaa	p.E1589K	TIAM2_uc003qqe.3_Missense_Mutation_p.E1589K|TFB1M_uc003qqj.4_3'UTR|TIAM2_uc010kjj.3_Missense_Mutation_p.E1151K|TIAM2_uc003qqf.3_Missense_Mutation_p.E965K|TIAM2_uc011efl.1_Missense_Mutation_p.E933K|TIAM2_uc003qqg.3_Missense_Mutation_p.E901K|TIAM2_uc003qqh.3_Missense_Mutation_p.E514K|AB075492_uc021zhg.1_5'Flank|TFB1M_uc003qqi.1_5'Flank	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1589					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	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TAAAGACATCGAAATTCAGTT	0.542													A	155577914	G	A	155577914	3	1	4	1	0	0	0	0	1	0	0	0	15888	1059	37	1	4859	1	TIAM2	6	155577914	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	16123	155577914	15537153	1770	3835											
CLDN20	49861	broad.mit.edu	37	chr6	155596935	155596935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcacagccactctgctgCccaactggaaggtgaatgtg	11	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:155596935C>T	uc003qql.2	+	1	462	c.82C>T	c.(82-84)Ccc>Tcc	p.P28S	TFB1M_uc003qqj.4_Intron|TFB1M_uc003qqk.3_Intron|CLDN20_uc021zhh.1_Missense_Mutation_p.P28S	NM_001001346	NP_001001346	P56880	CLD20_HUMAN	Homo sapiens claudin 20 (CLDN20), mRNA.	28					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(2)	3				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		CACTCTGCTGCCCAACTGGAA	0.532													T	155596935	C	T	155596935	3	4	4	1	0	0	0	0	1	0	0	0	3482	739	26	2	84	2	CLDN20	6	155596935	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	19021	155596935	15518132	1771	3836											
NOX3	50508	broad.mit.edu	37	chr6	155743924	155743924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccgatccccgcggcaacGcacacacacactgggtagtg	10	16	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:155743924G>A	uc003qqm.3	-	9	1315	c.1212C>T	c.(1210-1212)tgC>tgT	p.C404C		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	404							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CCGCGGCAACGCACACACACA	0.532													A	155743924	G	A	155743924	2	1	4	1	0	0	0	0	0	0	0	1	10557	1079	38	1		1	NOX3	6	155743924	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	146989	155743924	15371143	1772	3837											
NOX3	50508	broad.mit.edu	37	chr6	155761236	155761236	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatcaccagaccggtgacGcctgctattgtccttagcaa	10	12	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:155761236G>A	uc003qqm.3	-	5	625	c.522C>T	c.(520-522)ggC>ggT	p.G174G		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	174	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	p.G174G(2)|p.A173A(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GACCGGTGACGCCTGCTATTG	0.403													A	155761236	G	A	155761236	2	1	4	1	0	0	0	0	0	0	0	1	10557	1074	38	1		1	NOX3	6	155761236	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	17312	155761236	15353831	1773	3838											
ARID1B	57492	broad.mit.edu	37	chr6	157488293	157488293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgccgccctacagcatggCgcccgccatggtgaacagct	13	16	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:157488293C>T	uc003qqp.3	+	8	2960	c.2960C>T	c.(2959-2961)gCg>gTg	p.A987V	ARID1B_uc003qqo.3_Missense_Mutation_p.A1000V|ARID1B_uc003qqn.3_Missense_Mutation_p.A987V	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	987					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TACAGCATGGCGCCCGCCATG	0.597													T	157488293	C	T	157488293	3	4	4	1	0	0	0	0	1	0	0	0	914	768	27	1	3037	1	ARID1B	6	157488293	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1727057	157488293	13626774	1774	3839											
SNX9	51429	broad.mit.edu	37	chr6	158330785	158330785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaggctccaaaatgtatgGtctaaagagctacatcgaat	9	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:158330785G>A	uc003qqv.1	+	7	967	c.794G>A	c.(793-795)gGt>gAt	p.G265D		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	265	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AAAATGTATGGTCTAAAGAGC	0.413													A	158330785	G	A	158330785	3	1	4	1	0	0	0	0	1	0	0	0	14909	1261	44	4	824	4	SNX9	6	158330785	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	842492	158330785	12784282	1775	3840											
SYNJ2	8871	broad.mit.edu	37	chr6	158517270	158517270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagacccagtgtcagctggCgcttcagctgccaaggcaga	12	12	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:158517270C>T	uc003qqx.2	+	26	4471	c.4365C>T	c.(4363-4365)ggC>ggT	p.G1455G	SYNJ2_uc003qqy.2_Silent_p.G1218G|SYNJ2_uc003qqz.2_Silent_p.G1072G|SYNJ2_uc003qra.2_Silent_p.G798G	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1455							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TGTCAGCTGGCGCTTCAGCTG	0.507													T	158517270	C	T	158517270	2	4	4	1	0	0	0	0	0	0	0	1	15450	755	27	1		1	SYNJ2	6	158517270	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	186485	158517270	12597797	1776	3841											
TULP4	56995	broad.mit.edu	37	chr6	158923299	158923299	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtgtgcttgaagaagggCgacttctccctctaccccac	10	13	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:158923299C>T	uc003qrf.3	+	12	3961	c.2604C>T	c.(2602-2604)ggC>ggT	p.G868G	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	868					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TGAAGAAGGGCGACTTCTCCC	0.662													T	158923299	C	T	158923299	2	4	4	1	0	0	0	0	0	0	0	1	16773	755	27	1		1	TULP4	6	158923299	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	406029	158923299	12191768	1777	3842											
IGF2R	3482	broad.mit.edu	37	chr6	160468277	160468277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgaactacagaggcggcaCaccctataacaatgaaagac	8	11	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:160468277C>T	uc003qta.3	+	15	2286	c.2138C>T	c.(2137-2139)aCa>aTa	p.T713I		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	713					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGAGGCGGCACACCCTATAAC	0.463													T	160468277	C	T	160468277	3	4	4	1	0	0	0	0	1	0	0	0	7576	478	17	4	2200	4	IGF2R	6	160468277	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1544978	160468277	10646790	1778	3843											
IGF2R	3482	broad.mit.edu	37	chr6	160497000	160497000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactacacctcgctcatcgCgtttcactgtaagagaggtg	9	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:160497000C>T	uc003qta.3	+	35	5436	c.5288C>T	c.(5287-5289)gCg>gTg	p.A1763V		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1763					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	p.A1763V(2)|p.A1763T(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TCGCTCATCGCGTTTCACTGT	0.458													T	160497000	C	T	160497000	3	4	4	1	0	0	0	0	1	0	0	0	7576	768	27	1	5430	1	IGF2R	6	160497000	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	28723	160497000	10618067	1779	3844											
IGF2R	3482	broad.mit.edu	37	chr6	160523629	160523629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacggagccaggcagtcggCgcggtgctcagcctgctgct	16	13	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:160523629C>T	uc003qta.3	+	45	7069	c.6921C>T	c.(6919-6921)ggC>ggT	p.G2307G		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	2307					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGGCAGTCGGCGCGGTGCTCA	0.647													T	160523629	C	T	160523629	2	4	4	1	0	0	0	0	0	0	0	1	7576	755	27	1		1	IGF2R	6	160523629	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	26629	160523629	10591438	1780	3845											
LPA	4018	broad.mit.edu	37	chr6	160977182	160977182	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctggccattaccatggtaGcactgccggaccacaggggt	12	13	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:160977182G>T	uc003qtl.3	-	30	4968	c.4848C>A	c.(4846-4848)tgC>tgA	p.C1616*		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4124	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TACCATGGTAGCACTGCCGGA	0.468													T	160977182	G	T	160977182	4	4	4	1	0	0	0	0	0	1	0	0	8903	963	34	5	1314	5	LPA	6	160977182	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	453553	160977182	10137885	1781	3846											
LPA	4018	broad.mit.edu	37	chr6	161006078	161006078	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctaacatgatagacatacGcatttggatagtataatggg	11	5	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:161006078G>A	uc003qtl.3	-	27	4409	c.4289_splice	c.e27+1	p.A1430_splice		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3938	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.A1430V(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAGACATACGCATTTGGATA	0.433													A	161006078	G	A	161006078	5	1	4	1	0	0	0	0	0	0	1	0	8903	1101	38	1	1889	1	LPA	6	161006078	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	28896	161006078	10108989	1782	3847											
LPA	4018	broad.mit.edu	37	chr6	161020532	161020532	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaaagaacaaagacgtacGcatttgggtagttttctggg	13	5	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:161020532G>A	uc003qtl.3	-	21	3407	c.3287_splice	c.e21+1	p.A1096_splice		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3604	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AAAGACGTACGCATTTGGGTA	0.488													A	161020532	G	A	161020532	5	1	4	1	0	0	0	0	0	0	1	0	8903	1101	38	1	2915	1	LPA	6	161020532	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	14454	161020532	10094535	1783	3848											
LPA	4018	broad.mit.edu	37	chr6	161026078	161026078	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaaagaaaatagacatacGcatttgggtagtatgctggg	13	4	0	2	rs139937718	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:161026078G>A	uc003qtl.3	-	19	3065	c.2945_splice	c.e19+1	p.A982_splice		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3490	Kringle 9.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAGACATACGCATTTGGGTA	0.448													A	161026078	G	A	161026078	5	1	4	1	0	0	0	0	0	0	1	0	8903	1101	38	1	3265	1	LPA	6	161026078	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5546	161026078	10088989	1784	3849											
PLG	5340	broad.mit.edu	37	chr6	161152221	161152221	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagtgttgtagcacctccGcctgttgtcctgcttccaga	11	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:161152221G>A	uc003qtm.4	+	10	1507	c.1395G>A	c.(1393-1395)ccG>ccA	p.P465P		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	465					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TAGCACCTCCGCCTGTTGTCC	0.512													A	161152221	G	A	161152221	2	1	4	1	0	0	0	0	0	0	0	1	12086	1074	38	1		1	PLG	6	161152221	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	126143	161152221	9962846	1785	3850											
MAP3K4	4216	broad.mit.edu	37	chr6	161508846	161508846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcaaaagattcagatgacGtactcatcgatgcctatctg	8	9	4	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:161508846G>A	uc003qtn.3	+	9	2825	c.2683G>A	c.(2683-2685)Gta>Ata	p.V895I	MAP3K4_uc010kkc.1_Missense_Mutation_p.V895I|MAP3K4_uc003qto.3_Missense_Mutation_p.V895I|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.V348I	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	895					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTCAGATGACGTACTCATCGA	0.493													A	161508846	G	A	161508846	3	1	4	1	0	0	0	0	1	0	0	0	9252	1145	40	1	2721	1	MAP3K4	6	161508846	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	356625	161508846	9606221	1786	3851											
MAP3K4	4216	broad.mit.edu	37	chr6	161533750	161533750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaggagagggccatgggCgtgcggccgacatctggagt	17	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:161533750C>T	uc003qtn.3	+	24	4712	c.4570C>T	c.(4570-4572)Cgt>Tgt	p.R1524C	MAP3K4_uc003qto.3_Missense_Mutation_p.R1474C|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.R977C|MAP3K4_uc003qtp.3_Missense_Mutation_p.R460C|MAP3K4_uc003qtq.3_Missense_Mutation_p.R213C	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	1524	Protein kinase.				JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGGCCATGGGCGTGCGGCCGA	0.522													T	161533750	C	T	161533750	3	4	4	1	0	0	0	0	1	0	0	0	9252	768	27	1	4668	1	MAP3K4	6	161533750	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	24904	161533750	9581317	1787	3852											
AGPAT4	56895	broad.mit.edu	37	chr6	161574408	161574408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagctcctcacggtgatggCgaagcccttggttcgtggca	13	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:161574408C>T	uc003qtr.1	-	4	861	c.634G>A	c.(634-636)Gcc>Acc	p.A212T	AGPAT4_uc003qts.1_Missense_Mutation_p.A72T|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_Non-coding_Transcript|AGPAT4_uc011egc.1_3'UTR|AGPAT4_uc011egd.1_3'UTR|AGPAT4_uc011ege.1_3'UTR	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA.	212					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	p.A212T(4)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		ACGGTGATGGCGAAGCCCTTG	0.622											OREG0017775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	161574408	C	T	161574408	3	4	4	1	0	0	0	0	1	0	0	0	389	768	27	1	522	1	AGPAT4	6	161574408	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	40658	161574408	9540659	1788	3853											
QKI	9444	broad.mit.edu	37	chr6	163984542	163984542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcccaccagctgccctgcGtactcctacgccagctggcc	8	20	1	0	rs142647102		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:163984542G>A	uc003qui.3	+	5	1276	c.725G>A	c.(724-726)cGt>cAt	p.R242H	QKI_uc003quj.3_Missense_Mutation_p.R234H|QKI_uc003quh.3_Missense_Mutation_p.R234H|QKI_uc003que.3_Missense_Mutation_p.R242H|QKI_uc003quf.3_Missense_Mutation_p.R242H|QKI_uc003qug.3_Missense_Mutation_p.R242H	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	242					RNA splicing|mRNA processing|mRNA transport|regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GCTGCCCTGCGTACTCCTACG	0.552													A	163984542	G	A	163984542	3	1	4	1	0	0	0	0	1	0	0	0	12873	1145	40	1	747	1	QKI	6	163984542	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2410134	163984542	7130525	1789	3854											
C6orf118	168090	broad.mit.edu	37	chr6	165715311	165715311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcgccatccaggagggCcccgtccaggagggcctcct	13	17	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:165715311C>T	uc003qum.4	-	1	536	c.500G>A	c.(499-501)gGc>gAc	p.G167D	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	167										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCCAGGAGGGCCCCGTCCAGG	0.632													T	165715311	C	T	165715311	3	4	4	1	0	0	0	0	1	0	0	0	2323	739	26	2	941	2	C6orf118	6	165715311	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1730769	165715311	5399756	1790	3855											
FGFR1OP	11116	broad.mit.edu	37	chr6	167436102	167436102	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgatgatcccattcctaAgccagagaaaacttacggtt	7	10	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:167436102A>G	uc003qvj.3	+	7	870	c.785A>G	c.(784-786)aAg>aGg	p.K262R	CCR6_uc003qvl.3_5'UTR|FGFR1OP_uc011egp.1_Missense_Mutation_p.K215R|FGFR1OP_uc003qvk.3_Missense_Mutation_p.K242R	NM_007045	NP_008976	O95684	FR1OP_HUMAN	Homo sapiens FGFR1 oncogene partner (FGFR1OP), transcript variant 1, mRNA.	262					G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		CCCATTCCTAAGCCAGAGAAA	0.333			T	FGFR1	"MPD, NHL"								G	167436102	A	G	167436102	3	3	4	1	0	0	0	0	1	0	0	0	5864	72	3	3	815	3	FGFR1OP	6	167436102	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1720791	167436102	3678965	1791	3856											
UNC93A	54346	broad.mit.edu	37	chr6	167728837	167728837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgagcctgaccatggtggCgtatgggcttgtggagtgcg	17	9	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:167728837C>T	uc003qvq.3	+	7	1446	c.1271C>T	c.(1270-1272)gCg>gTg	p.A424V	UNC93A_uc003qvr.3_Missense_Mutation_p.A382V	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	424						integral to membrane|plasma membrane		p.A424A(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACCATGGTGGCGTATGGGCTT	0.552													T	167728837	C	T	167728837	3	4	4	1	0	0	0	0	1	0	0	0	16993	768	27	1	1301	1	UNC93A	6	167728837	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	292735	167728837	3386230	1792	3857											
MLLT4	4301	broad.mit.edu	37	chr6	168281118	168281118	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgctgtctactacagatcCtgcagactttgctgtggctg	10	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:168281118C>A	uc021zik.1	+	5	1014	c.695C>A	c.(694-696)cCt>cAt	p.P232H	MLLT4_uc003qwb.1_Missense_Mutation_p.P272H|MLLT4_uc003qwc.2_Missense_Mutation_p.P273H|MLLT4_uc021zij.1_Missense_Mutation_p.P272H|MLLT4_uc003qwf.3_5'UTR	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	273					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ACTACAGATCCTGCAGACTTT	0.388			T	MLL	AL								A	168281118	C	A	168281118	3	1	4	1	0	0	0	0	1	0	0	0	9629	681	24	5	840	5	MLLT4	6	168281118	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	552281	168281118	2833949	1793	3858											
MLLT4	4301	broad.mit.edu	37	chr6	168312071	168312071	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcatgccggtatgtattgTccaaccagtacagacctgac	10	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:168312071T>C	uc021zik.1	+	14	2135	c.1816T>C	c.(1816-1818)Tcc>Ccc	p.S606P	MLLT4_uc003qwb.1_Missense_Mutation_p.S631P|MLLT4_uc003qwc.2_Missense_Mutation_p.S647P|MLLT4_uc021zij.1_Missense_Mutation_p.S631P|MLLT4_uc003qwf.3_Missense_Mutation_p.S332P|MLLT4_uc021zim.1_Missense_Mutation_p.S193P|MLLT4_uc003qwg.1_5'Flank	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	647					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GTATGTATTGTCCAACCAGTA	0.418			T	MLL	AL								C	168312071	T	C	168312071	3	2	4	1	0	0	0	0	1	0	0	0	9629	1667	58	3	1997	3	MLLT4	6	168312071	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	30953	168312071	2802996	1794	3859											
MLLT4	4301	broad.mit.edu	37	chr6	168344088	168344088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggatttgcctaggatggaCgtctagctgcaggtgatcag	15	7	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:168344088C>T	uc021zik.1	+	23	3347	c.3028C>T	c.(3028-3030)Cgt>Tgt	p.R1010C	MLLT4_uc003qwb.1_Missense_Mutation_p.R1035C|MLLT4_uc003qwc.2_Missense_Mutation_p.R1051C|MLLT4_uc021zij.1_Missense_Mutation_p.R1034C|MLLT4_uc021zim.1_Missense_Mutation_p.R597C|MLLT4_uc003qwg.1_Missense_Mutation_p.R360C	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1051	PDZ.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.R1035C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTAGGATGGACGTCTAGCTGC	0.453			T	MLL	AL								T	168344088	C	T	168344088	3	4	4	1	0	0	0	0	1	0	0	0	9629	536	19	1	3245	1	MLLT4	6	168344088	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	32017	168344088	2770979	1795	3860											
MLLT4	4301	broad.mit.edu	37	chr6	168352728	168352728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggagagcgaccggctgcGcaagctcatgctggagtggc	17	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:168352728G>A	uc021zik.1	+	28	4869	c.4550G>A	c.(4549-4551)cGc>cAc	p.R1517H	MLLT4_uc003qwb.1_Missense_Mutation_p.R1542H|MLLT4_uc003qwc.2_Missense_Mutation_p.R1558H|MLLT4_uc021zij.1_Missense_Mutation_p.R1541H|MLLT4_uc021zim.1_Missense_Mutation_p.R1104H|MLLT4_uc003qwg.1_Missense_Mutation_p.R867H	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1558					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GACCGGCTGCGCAAGCTCATG	0.592			T	MLL	AL								A	168352728	G	A	168352728	3	1	4	1	0	0	0	0	1	0	0	0	9629	1087	38	1	4787	1	MLLT4	6	168352728	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	8640	168352728	2762339	1796	3861											
DLL1	28514	broad.mit.edu	37	chr6	170592454	170592454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgaggttatagtccaccGctgggtagcgggccttgaag	15	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:170592454G>A	uc003qxm.3	-	8	2383	c.1913C>T	c.(1912-1914)gCg>gTg	p.A638V		NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	638					Notch receptor processing|Notch signaling pathway|cell communication|cell fate determination|hemopoiesis|regulation of cell adhesion	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		ATAGTCCACCGCTGGGTAGCG	0.622													A	170592454	G	A	170592454	3	1	4	1	0	0	0	0	1	0	0	0	4566	1087	38	1	270	1	DLL1	6	170592454	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2239726	170592454	522613	1797	3862											
FAM120B	84498	broad.mit.edu	37	chr6	170627136	170627136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtctgggcctctgtgtgGccgaccttcctcttctggcc	12	14	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:170627136G>A	uc003qxp.3	+	1	766	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	FAM120B_uc003qxo.1_Missense_Mutation_p.A220T|FAM120B_uc011ehd.2_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.	220					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.A220T(2)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CCTCTGTGTGGCCGACCTTCC	0.522													A	170627136	G	A	170627136	3	1	4	1	0	0	0	0	1	0	0	0	5417	1203	42	2	660	2	FAM120B	6	170627136	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	34682	170627136	487931	1798	3863											
HEATR2	54919	broad.mit.edu	37	chr7	796464	796464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgtttgtcagccctgagGtgtttctgaagctgatctta	12	8	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:796464G>A	uc010krz.1	+	5	1323	c.1303G>A	c.(1303-1305)Gtg>Atg	p.V435M	HEATR2_uc003siz.2_Missense_Mutation_p.V303M	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	435							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CAGCCCTGAGGTGTTTCTGAA	0.602													A	796464	G	A	796464	3	1	4	1	0	0	0	0	1	0	0	0	7028	1261	44	4	1325	4	HEATR2	7	796464	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08		796464	158342199	1799	3864											
HEATR2	54919	broad.mit.edu	37	chr7	803547	803547	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagcgggtgaccgcgtcGcaccttgactggaccgcaca	14	14	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:803547G>A	uc010krz.1	+	7	1739	c.1719G>A	c.(1717-1719)tcG>tcA	p.S573S	HEATR2_uc003siz.2_Silent_p.S441S|HEATR2_uc003sja.3_Silent_p.S31S	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	573							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TGACCGCGTCGCACCTTGACT	0.652													A	803547	G	A	803547	2	1	4	1	0	0	0	0	0	0	0	1	7028	1074	38	1		1	HEATR2	7	803547	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	7083	803547	158335116	1800	3865											
HEATR2	54919	broad.mit.edu	37	chr7	825235	825235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccacaagcaccgctcggCcacctactgcgagcagctcc	8	19	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:825235C>T	uc010krz.1	+	12	2533	c.2513C>T	c.(2512-2514)gCc>gTc	p.A838V	HEATR2_uc003siz.2_Missense_Mutation_p.A706V|HEATR2_uc003sjb.2_Missense_Mutation_p.A218V|HEATR2_uc003sjc.2_Missense_Mutation_p.A263V	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	838							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CACCGCTCGGCCACCTACTGC	0.617													T	825235	C	T	825235	3	4	4	1	0	0	0	0	1	0	0	0	7028	739	26	2	2563	2	HEATR2	7	825235	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	21688	825235	158313428	1801	3866											
INTS1	26173	broad.mit.edu	37	chr7	1538054	1538054	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccctgggcctaccttgggCgccagctctgagctgtgctg	14	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:1538054C>T	uc003skn.2	-	9	1520	c.1419G>A	c.(1417-1419)gcG>gcA	p.A473A	INTS1_uc003skq.2_Silent_p.A473A	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	473					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTACCTTGGGCGCCAGCTCTG	0.642													T	1538054	C	T	1538054	2	4	4	1	0	0	0	0	0	0	0	1	7775	755	27	1		1	INTS1	7	1538054	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	712819	1538054	157600609	1802	3867											
MAD1L1	8379	broad.mit.edu	37	chr7	1997289	1997289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctcgccgctccagctgtGcctccagcatcctcttttcc	8	18	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:1997289G>A	uc003slh.1	-	15	1837	c.1571C>T	c.(1570-1572)gCa>gTa	p.A524V	MAD1L1_uc003sle.1_Missense_Mutation_p.A253V|MAD1L1_uc003slf.1_Missense_Mutation_p.A524V|MAD1L1_uc003slg.1_Missense_Mutation_p.A524V|MAD1L1_uc010ksh.1_Missense_Mutation_p.A524V|MAD1L1_uc003sli.1_Missense_Mutation_p.A432V|MAD1L1_uc010ksi.1_Missense_Mutation_p.A477V|MAD1L1_uc010ksj.3_Missense_Mutation_p.A524V	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	524	Necessary for interaction with NEK2.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CTCCAGCTGTGCCTCCAGCAT	0.637													A	1997289	G	A	1997289	3	1	4	1	0	0	0	0	1	0	0	0	9147	1319	46	2	601	2	MAD1L1	7	1997289	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	459235	1997289	157141374	1803	3868											
TTYH3	80727	broad.mit.edu	37	chr7	2698584	2698584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcctcaggagccagaacGctaatttccagaacccccgc	8	16	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:2698584G>A	uc003smp.3	+	12	1622	c.1435G>A	c.(1435-1437)Gct>Act	p.A479T	TTYH3_uc010ksn.3_Missense_Mutation_p.A199T|TTYH3_uc003smq.3_Missense_Mutation_p.A308T	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	Homo sapiens tweety homolog 3 (Drosophila) (TTYH3), mRNA.	479						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GAGCCAGAACGCTAATTTCCA	0.662													A	2698584	G	A	2698584	3	1	4	1	0	0	0	0	1	0	0	0	16738	1087	38	1	1485	1	TTYH3	7	2698584	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	701295	2698584	156440079	1804	3869											
AMZ1	155185	broad.mit.edu	37	chr7	2740354	2740354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagcaccggaagccccGcctggctcggaagcacatct	11	17	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:2740354G>A	uc003smr.1	+	1	630	c.269G>A	c.(268-270)cGc>cAc	p.R90H	AMZ1_uc003sms.1_Missense_Mutation_p.R90H|AMZ1_uc011jwa.1_5'Flank	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	90							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CGGAAGCCCCGCCTGGCTCGG	0.647													A	2740354	G	A	2740354	3	1	4	1	0	0	0	0	1	0	0	0	596	1087	38	1	271	1	AMZ1	7	2740354	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	41770	2740354	156398309	1805	3870											
CARD11	84433	broad.mit.edu	37	chr7	2963993	2963993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaaggagtagcgttcgtgaCtgtcatctgcagagggacga	15	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:2963993C>T	uc003smv.3	-	14	2148	c.1814G>A	c.(1813-1815)aGt>aAt	p.S605N		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	605					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCGTTCGTGACTGTCATCTGC	0.657			Mis		DLBCL								T	2963993	C	T	2963993	3	4	4	1	0	0	0	0	1	0	0	0	2645	565	20	4	1694	4	CARD11	7	2963993	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	223639	2963993	156174670	1806	3871											
SDK1	221935	broad.mit.edu	37	chr7	3991379	3991379	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggcctgtggaggacctgaGtgtgacctggaagaggaatg	17	7	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:3991379G>T	uc003smx.3	+	6	1116	c.977G>T	c.(976-978)aGt>aTt	p.S326I		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	326	Ig-like C2-type 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GAGGACCTGAGTGTGACCTGG	0.587													T	3991379	G	T	3991379	3	4	4	1	0	0	0	0	1	0	0	0	13968	1029	36	5	1003	5	SDK1	7	3991379	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1027386	3991379	155147284	1807	3872											
FOXK1	221937	broad.mit.edu	37	chr7	4796712	4796712	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggaaggggtccttttggCgaatagaccctgcctctgaa	13	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:4796712C>T	uc003snc.1	+	4	1148	c.1138C>T	c.(1138-1140)Cga>Tga	p.R380*	FOXK1_uc003sna.1_Nonsense_Mutation_p.R217*	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	380					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GTCCTTTTGGCGAATAGACCC	0.572													T	4796712	C	T	4796712	4	4	4	1	0	0	0	0	0	1	0	0	6014	760	27	1	1156	1	FOXK1	7	4796712	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	805333	4796712	154341951	1808	3873											
RADIL	55698	broad.mit.edu	37	chr7	4871777	4871777	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggtcatactcacagttgCgcctgcttctctgctagttc	9	14	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:4871777C>T	uc003snj.1	-	4	1622	c.1449G>A	c.(1447-1449)gcG>gcA	p.A483A	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_5'UTR|RADIL_uc011jwc.1_Silent_p.A243A|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	483					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CTCACAGTTGCGCCTGCTTCT	0.557													T	4871777	C	T	4871777	2	4	4	1	0	0	0	0	0	0	0	1	12997	755	27	1		1	RADIL	7	4871777	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	75065	4871777	154266886	1809	3874											
RBAK	57786	broad.mit.edu	37	chr7	5097398	5097398	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgggaggtgaatttccatgtCaacatagtccaggtaagtta	11	6	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:5097398C>T	uc021zzc.1	+	3	408	c.226C>T	c.(226-228)Caa>Taa	p.Q76*	RBAK_uc003snr.3_Nonsense_Mutation_p.Q76*|RBAK_uc010kss.1_Nonsense_Mutation_p.Q76*|RBAK_uc003sns.1_Nonsense_Mutation_p.Q76*	NM_001204513	NP_001191442	Q9NYW8	RBAK_HUMAN	Homo sapiens RBAK-LOC389458 readthrough (RBAK-LOC389458), mRNA.	76	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ATTTCCATGTCAACATAGTCC	0.418													T	5097398	C	T	5097398	4	4	4	1	0	0	0	0	0	1	0	0	13100	827	29	4	236	4	RBAK	7	5097398	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	225621	5097398	154041265	1810	3875											
SLC29A4	222962	broad.mit.edu	37	chr7	5331433	5331433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctggccgctgtgggcacCgtggccttcggctgcacagg	15	14	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:5331433C>T	uc003sod.3	+	4	686	c.525C>T	c.(523-525)acC>acT	p.T175T	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Silent_p.T175T|SLC29A4_uc003soe.3_Missense_Mutation_p.P163L	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	175					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CTGTGGGCACCGTGGCCTTCG	0.652													T	5331433	C	T	5331433	2	4	4	1	0	0	0	0	0	0	0	1	14537	639	23	1		1	SLC29A4	7	5331433	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	234035	5331433	153807230	1811	3876											
FBXL18	80028	broad.mit.edu	37	chr7	5541130	5541130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggaggttctgaggagtgCggtcgctaagcacagccagg	17	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:5541130C>T	uc003soo.2	-	2	864	c.770G>A	c.(769-771)cGc>cAc	p.R257H	FBXL18_uc003son.4_Missense_Mutation_p.R257H	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	257									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CTGAGGAGTGCGGTCGCTAAG	0.647													T	5541130	C	T	5541130	3	4	4	1	0	0	0	0	1	0	0	0	5714	768	27	1	1398	1	FBXL18	7	5541130	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	209697	5541130	153597533	1812	3877											
ACTB	60	broad.mit.edu	37	chr7	5568056	5568056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgctcgaagtccagggCgacgtagcacagcttctcct	10	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:5568056C>T	uc003sot.4	-	3	742	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	ACTB_uc003sor.4_Missense_Mutation_p.A98T|ACTB_uc003soq.4_Missense_Mutation_p.A98T	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	220					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		AAGTCCAGGGCGACGTAGCAC	0.587													T	5568056	C	T	5568056	3	4	4	1	0	0	0	0	1	0	0	0	193	768	27	1	481	1	ACTB	7	5568056	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	26926	5568056	153570607	1813	3878											
ACTB	60	broad.mit.edu	37	chr7	5568123	5568123	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgtggtggtgaagctgtaGccgcgctcggtgaggatctt	17	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:5568123G>T	uc003sot.4	-	3	675	c.591C>A	c.(589-591)ggC>ggA	p.G197G	ACTB_uc003sor.4_Silent_p.G75G|ACTB_uc003soq.4_Silent_p.G75G	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	197					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGAAGCTGTAGCCGCGCTCGG	0.617													T	5568123	G	T	5568123	2	4	4	1	0	0	0	0	0	0	0	1	193	958	34	5		5	ACTB	7	5568123	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	67	5568123	153570540	1814	3879											
RNF216	54476	broad.mit.edu	37	chr7	5792588	5792588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtcagatatggtgatgggCccatctcggagattgatcca	13	8	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:5792588C>T	uc003sox.2	-	2	349	c.90G>A	c.(88-90)ggG>ggA	p.G30G	RNF216_uc010ksz.2_5'UTR|RNF216_uc010kta.2_5'UTR|RNF216_uc003soy.2_Silent_p.G30G|RNF216_uc011jwj.2_Intron	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.	30					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TGGTGATGGGCCCATCTCGGA	0.493													T	5792588	C	T	5792588	2	4	4	1	0	0	0	0	0	0	0	1	13480	726	26	2		2	RNF216	7	5792588	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	224465	5792588	153346075	1815	3880											
RSPH10B	222967	broad.mit.edu	37	chr7	6836263	6836263	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtgggtcaataatacgtaCgtcttctttgtgaacacgct	9	9	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:6836263C>T	uc003sqw.1	+	19	2569	c.2298C>T	c.(2296-2298)taC>taT	p.Y766Y	RSPH10B_uc010ktk.1_Silent_p.Y766Y|RSPH10B_uc011jxc.2_Missense_Mutation_p.T388M|RSPH10B_uc010ktl.2_Non-coding_Transcript	NM_173565	NP_001093167	B2RC85	R10B2_HUMAN	Homo sapiens radial spoke head 10 homolog B (Chlamydomonas) (RSPH10B), mRNA.	766								p.M765T(1)		breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		ATAATACGTACGTCTTCTTTG	0.438													T	6836263	C	T	6836263	2	4	4	1	0	0	0	0	0	0	0	1	13703	547	19	1		1	RSPH10B	7	6836263	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1043675	6836263	152302400	1816	3881											
MIOS	54468	broad.mit.edu	37	chr7	7636049	7636049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccacttcctcgatgtgcGctttgtctcattaatatggg	8	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:7636049G>A	uc003srf.3	+	10	2666	c.2358G>A	c.(2356-2358)gcG>gcA	p.A786A	MIOS_uc003srg.3_Silent_p.A321A|MIOS_uc010ktq.3_Silent_p.A181A	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	Homo sapiens missing oocyte, meiosis regulator, homolog (Drosophila) (MIOS), mRNA.	786										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTCGATGTGCGCTTTGTCTCA	0.393													A	7636049	G	A	7636049	2	1	4	1	0	0	0	0	0	0	0	1	9589	1074	38	1		1	MIOS	7	7636049	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	799786	7636049	151502614	1817	3882											
THSD7A	221981	broad.mit.edu	37	chr7	11464343	11464343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacttttcgggtttgcacGccctctccacagttctcccg	7	17	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:11464343G>A	uc021zzo.1	-	15	3615	c.3363C>T	c.(3361-3363)ggC>ggT	p.G1121G	THSD7A_uc021zzn.1_Silent_p.G1119G	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1121	TSP type-1 11.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGGTTTGCACGCCCTCTCCAC	0.483										HNSCC(18;0.044)			A	11464343	G	A	11464343	2	1	4	1	0	0	0	0	0	0	0	1	15876	1074	38	1		1	THSD7A	7	11464343	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3828294	11464343	147674320	1818	3883											
TMEM106B	54664	broad.mit.edu	37	chr7	12263863	12263863	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttttcagaaagctgtatgTgatggcttctgtgtttgtct	10	7	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:12263863T>C	uc011jxk.2	+	4	693	c.293T>C	c.(292-294)gTg>gCg	p.V98A	TMEM106B_uc003ssh.3_Missense_Mutation_p.V98A	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN	Homo sapiens transmembrane protein 106B (TMEM106B), transcript variant 1, mRNA.	98						integral to membrane				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		AAGCTGTATGTGATGGCTTCT	0.383													C	12263863	T	C	12263863	3	2	4	1	0	0	0	0	1	0	0	0	16018	1696	59	3	303	3	TMEM106B	7	12263863	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	799520	12263863	146874800	1819	3884											
ARL4A	10124	broad.mit.edu	37	chr7	12727924	12727924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttctatcctgtccaacctGccttcatttcagtctttcca	3	15	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:12727924G>A	uc003ssp.3	+	1	351	c.45G>A	c.(43-45)ctG>ctA	p.L15L	ARL4A_uc003ssq.3_Silent_p.L15L|ARL4A_uc021zzq.1_Silent_p.L15L|ARL4A_uc003sss.3_Silent_p.L15L|ARL4A_uc021zzr.1_Silent_p.L15L	NM_001037164	NP_997625	P40617	ARL4A_HUMAN	Homo sapiens ADP-ribosylation factor-like 4A (ARL4A), transcript variant 3, mRNA.	15					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		TGTCCAACCTGCCTTCATTTC	0.413													A	12727924	G	A	12727924	2	1	4	1	0	0	0	0	0	0	0	1	936	1306	46	2		2	ARL4A	7	12727924	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	464061	12727924	146410739	1820	3885											
ARL4A	10124	broad.mit.edu	37	chr7	12728427	12728427	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggacttgagaaactacAtgatatgatcattaaaagaa	9	4	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:12728427A>G	uc003ssp.3	+	1	854	c.548A>G	c.(547-549)cAt>cGt	p.H183R	ARL4A_uc003ssq.3_Missense_Mutation_p.H183R|ARL4A_uc021zzq.1_Missense_Mutation_p.H183R|ARL4A_uc003sss.3_Missense_Mutation_p.H183R|ARL4A_uc021zzr.1_Missense_Mutation_p.H183R	NM_001037164	NP_997625	P40617	ARL4A_HUMAN	Homo sapiens ADP-ribosylation factor-like 4A (ARL4A), transcript variant 3, mRNA.	183					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		GAGAAACTACATGATATGATC	0.388													G	12728427	A	G	12728427	3	3	4	1	0	0	0	0	1	0	0	0	936	217	8	3	550	3	ARL4A	7	12728427	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	503	12728427	146410236	1821	3886											
ETV1	2115	broad.mit.edu	37	chr7	13971341	13971341	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcgtcggcaaaggaggaaaGgagttacagggttcagaaag	15	5	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:13971341G>T	uc021zzz.1	-	6	675	c.588C>A	c.(586-588)tcC>tcA	p.S196S	ETV1_uc021zzt.1_Silent_p.S156S|ETV1_uc021zzu.1_Silent_p.S93S|ETV1_uc021zzv.1_Silent_p.S138S|ETV1_uc021zzw.1_Silent_p.S156S|ETV1_uc021zzx.1_Silent_p.S93S|ETV1_uc021zzy.1_Silent_p.S138S|ETV1_uc022aaa.1_Silent_p.S178S|ETV1_uc022aab.1_Silent_p.S196S|ETV1_uc003ssw.4_Silent_p.S196S|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Silent_p.S178S|ETV1_uc022aad.1_Silent_p.S178S|ETV1_uc010ktv.3_Silent_p.S65S	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	196					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAGGAGGAAAGGAGTTACAGG	0.483			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								T	13971341	G	T	13971341	2	4	4	1	0	0	0	0	0	0	0	1	5277	987	35	5		5	ETV1	7	13971341	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1242914	13971341	145167322	1822	3887											
DGKB	1607	broad.mit.edu	37	chr7	14653016	14653016	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcacaaaaactaaaagtgggTgagtaccaggcacaggagtg	12	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:14653016T>A	uc003ssz.3	-	14	1497	c.1310A>T	c.(1309-1311)cAc>cTc	p.H437L	DGKB_uc011jxt.2_Missense_Mutation_p.H418L|DGKB_uc003sta.3_Missense_Mutation_p.H437L|DGKB_uc011jxu.2_Missense_Mutation_p.H436L	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	437	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			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TAAAAGTGGGTGAGTACCAGG	0.323													A	14653016	T	A	14653016	3	1	4	1	0	0	0	0	1	0	0	0	4466	1696	59	5	1163	5	DGKB	7	14653016	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	681675	14653016	144485647	1823	3888											
DGKB	1607	broad.mit.edu	37	chr7	14758253	14758253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattacttctggggaacacGtatttgcaggagaagtagtc	13	6	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:14758253G>A	uc003ssz.3	-	4	567	c.380C>T	c.(379-381)aCg>aTg	p.T127M	DGKB_uc011jxt.2_Missense_Mutation_p.T120M|DGKB_uc003sta.3_Missense_Mutation_p.T127M|DGKB_uc011jxu.2_Missense_Mutation_p.T127M|DGKB_uc011jxv.1_Missense_Mutation_p.T127M	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	127					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			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGGGGAACACGTATTTGCAGG	0.403													A	14758253	G	A	14758253	3	1	4	1	0	0	0	0	1	0	0	0	4466	1145	40	1	2133	1	DGKB	7	14758253	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	105237	14758253	144380410	1824	3889											
FERD3L	222894	broad.mit.edu	37	chr7	19184742	19184742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagggagacacctcttccgcGctcctcttcctcctcctctt	6	18	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:19184742G>A	uc003suo.1	-	0	303	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	BC043576_uc003sun.1_Non-coding_Transcript	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	Homo sapiens Fer3-like (Drosophila) (FERD3L), mRNA.	82					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E81*(1)|p.E81_R82insE(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						cctcttccgcgctcctcttcc	0.617													A	19184742	G	A	19184742	3	1	4	1	0	0	0	0	1	0	0	0	5816	1087	38	1	260	1	FERD3L	7	19184742	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4426489	19184742	139953921	1825	3890											
MACC1	346389	broad.mit.edu	37	chr7	20199427	20199427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggagcgggccagctggCgttgacttaaccaagccatt	14	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:20199427C>T	uc003sus.4	-	4	866	c.557G>A	c.(556-558)cGc>cAc	p.R186H	MACC1_uc010kug.3_Missense_Mutation_p.R186H	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	186					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	p.R186H(2)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GGCCAGCTGGCGTTGACTTAA	0.478													T	20199427	C	T	20199427	3	4	4	1	0	0	0	0	1	0	0	0	9143	768	27	1	2013	1	MACC1	7	20199427	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1014685	20199427	138939236	1826	3891											
DNAH11	8701	broad.mit.edu	37	chr7	21627789	21627789	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatacagagctggatgtgtgTaagcaactgtataatgaaca	10	5	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:21627789T>C	uc003svc.3	+	9	1849	c.1818T>C	c.(1816-1818)tgT>tgC	p.C606C		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	606	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGATGTGTGTAAGCAACTGT	0.373									Kartagener syndrome				C	21627789	T	C	21627789	2	2	4	1	0	0	0	0	0	0	0	1	4599	1644	57	3		3	DNAH11	7	21627789	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1428362	21627789	137510874	1827	3892											
DNAH11	8701	broad.mit.edu	37	chr7	21631027	21631027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgagcgcacacagaaaaaCgtgaaggtgatccagcagac	12	9	0	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:21631027C>T	uc003svc.3	+	13	2530	c.2499C>T	c.(2497-2499)aaC>aaT	p.N833N		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	833	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CACAGAAAAACGTGAAGGTGA	0.602									Kartagener syndrome				T	21631027	C	T	21631027	2	4	4	1	0	0	0	0	0	0	0	1	4599	535	19	1		1	DNAH11	7	21631027	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3238	21631027	137507636	1828	3893											
CDCA7L	55536	broad.mit.edu	37	chr7	21943869	21943869	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtcgacactgatggcaCgtgttaccctacagggggaa	12	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:21943869C>T	uc010kuk.3	-	7	1176	c.1056G>A	c.(1054-1056)acG>acA	p.T352T	CDCA7L_uc003sve.4_Silent_p.T318T|CDCA7L_uc010kul.3_Silent_p.T306T|CDCA7L_uc003svf.4_Silent_p.T351T	NM_018719	NP_001120842	Q96GN5	CDA7L_HUMAN	Homo sapiens cell division cycle associated 7-like (CDCA7L), transcript variant 1, mRNA.	352					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						ACTGATGGCACGTGTTACCCT	0.537													T	21943869	C	T	21943869	2	4	4	1	0	0	0	0	0	0	0	1	3091	523	19	1		1	CDCA7L	7	21943869	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	312842	21943869	137194794	1829	3894											
NUPL2	11097	broad.mit.edu	37	chr7	23224773	23224773	+	Frame_Shift_Del	DEL	G	G	-													tttctccaaatccacaccatGggggggcagcagagatcaag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:23224772_23224772TG>T	uc003svu.3	+	1	464	c.205_205TG>T	c.(205-207)tggfs	p.W69fs	NUPL2_uc003svv.3_Non-coding_Transcript|NUPL2_uc011jyw.2_Non-coding_Transcript	NM_007342	NP_031368	O15504	NUPL2_HUMAN	Homo sapiens nucleoporin like 2 (NUPL2), mRNA.	69					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCACACCATGGGGGGGCAG	0.408													-	23224773	G	-	23224773	7	5	4	1	0	1	0	1	0	0	0	0	10775	1357	47	0	212	0	NUPL2	7	23224773	Frame_Shift_Del	DEL	G	TCGA-BR-4184-01A-01D-1126-08	1280904	23224773	135913890	1830	3895											
DFNA5	1687	broad.mit.edu	37	chr7	24789387	24789387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaattcctggttgctttggCaaacattttgaaagctccag	8	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:24789387C>T	uc010kus.1	-	1	95	c.7G>A	c.(7-9)Gcc>Acc	p.A3T	DFNA5_uc003sxa.1_Missense_Mutation_p.A3T|DFNA5_uc010kut.1_Intron	NM_001127453	NP_001120926	O60443	DFNA5_HUMAN	Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA.	3					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GTTGCTTTGGCAAACATTTTG	0.328													T	24789387	C	T	24789387	3	4	4	1	0	0	0	0	1	0	0	0	4454	710	25	2	1519	2	DFNA5	7	24789387	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1564614	24789387	134349276	1831	3896											
OSBPL3	26031	broad.mit.edu	37	chr7	24839866	24839866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctaagttccaaataggtgCcgttgctcacccaagagtca	8	11	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:24839866C>T	uc003sxf.3	-	22	3005	c.2600G>A	c.(2599-2601)gGc>gAc	p.G867D	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Missense_Mutation_p.G831D|OSBPL3_uc003sxh.3_Missense_Mutation_p.G836D|OSBPL3_uc003sxi.3_Missense_Mutation_p.G800D	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	867					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CAAATAGGTGCCGTTGCTCAC	0.388													T	24839866	C	T	24839866	3	4	4	1	0	0	0	0	1	0	0	0	11279	739	26	2	67	2	OSBPL3	7	24839866	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	50479	24839866	134298797	1832	3897											
HOXA1	3198	broad.mit.edu	37	chr7	27134298	27134298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgatctccaccctgcgggCgcgcgtcaggtacttgttga	13	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:27134298C>T	uc003sye.3	-	1	863	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	HOXA1_uc003syd.3_3'UTR|HOXA1_uc022aao.1_3'UTR|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	257						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R256C(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACCCTGCGGGCGCGCGTCAGG	0.567													T	27134298	C	T	27134298	3	4	4	1	0	0	0	0	1	0	0	0	7288	768	27	1	242	1	HOXA1	7	27134298	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2294432	27134298	132004365	1833	3898											
HOXA1	3198	broad.mit.edu	37	chr7	27135154	27135154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagtaaacagcgggagcGcactgggggtacccaccact	13	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:27135154G>A	uc003sye.3	-	0	472	c.378C>T	c.(376-378)tgC>tgT	p.C126C	HOXA1_uc003syd.3_Intron|HOXA1_uc022aao.1_Silent_p.C126C|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	126						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.C126F(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAGCGGGAGCGCACTGGGGGT	0.567													A	27135154	G	A	27135154	2	1	4	1	0	0	0	0	0	0	0	1	7288	1079	38	1		1	HOXA1	7	27135154	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	856	27135154	132003509	1834	3899											
HOXA6	3203	broad.mit.edu	37	chr7	27185359	27185359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctttttccacttcatgCggcggttctggaaccagatc	8	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:27185359C>T	uc003syo.2	-	1	645	c.620G>A	c.(619-621)cGc>cAc	p.R207H	HOXA-AS3_uc003syr.2_Intron|HOXA5_uc003syn.2_5'Flank|HOXA-AS3_uc003syp.2_5'Flank	NM_024014	NP_076919	P31267	HXA6_HUMAN	Homo sapiens homeobox A6 (HOXA6), mRNA.	207						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R206R(1)		central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						CCACTTCATGCGGCGGTTCTG	0.602													T	27185359	C	T	27185359	3	4	4	1	0	0	0	0	1	0	0	0	7296	768	27	1	85	1	HOXA6	7	27185359	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	50205	27185359	131953304	1835	3900											
NEUROD6	63974	broad.mit.edu	37	chr7	31378581	31378581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcctgttcctctcgcgcGcgttcgcttcctgtctcctg	9	17	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:31378581G>A	uc003tch.3	-	1	655	c.302C>T	c.(301-303)gCg>gTg	p.A101V	NEUROD6_uc022abi.1_Missense_Mutation_p.A101V	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	101					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.N100N(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CCTCTCGCGCGCGTTCGCTTC	0.478													A	31378581	G	A	31378581	3	1	4	1	0	0	0	0	1	0	0	0	10351	1087	38	1	715	1	NEUROD6	7	31378581	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4193222	31378581	127760082	1836	3901											
CCDC129	223075	broad.mit.edu	37	chr7	31592727	31592727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaagtgcaccaaaagcgCgtgggctccgctggatgagt	14	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:31592727C>T	uc011kae.2	+	1	179	c.167C>T	c.(166-168)gCg>gTg	p.A56V	CCDC129_uc011kad.1_Missense_Mutation_p.A40V|CCDC129_uc003tcj.1_Missense_Mutation_p.A30V|CCDC129_uc003tci.1_Missense_Mutation_p.A29V|CCDC129_uc003tck.1_5'Flank	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	30										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACCAAAAGCGCGTGGGCTCCG	0.537													T	31592727	C	T	31592727	3	4	4	1	0	0	0	0	1	0	0	0	2764	768	27	1	91	1	CCDC129	7	31592727	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	214146	31592727	127545936	1837	3902											
BMPER	168667	broad.mit.edu	37	chr7	33945297	33945297	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcctgggattacgtgctgCgtcttgctgctactcaattg	11	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:33945297C>T	uc011kap.2	+	1	446	c.72C>T	c.(70-72)tgC>tgT	p.C24C		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	24					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TTACGTGCTGCGTCTTGCTGC	0.662													T	33945297	C	T	33945297	2	4	4	1	0	0	0	0	0	0	0	1	1468	776	27	1		1	BMPER	7	33945297	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2352570	33945297	125193366	1838	3903											
BMPER	168667	broad.mit.edu	37	chr7	34118628	34118628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgacgcccgccggacacGctccttctcgtggaccaagt	11	16	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:34118628G>A	uc011kap.2	+	12	1612	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	413	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CGCCGGACACGCTCCTTCTCG	0.627													A	34118628	G	A	34118628	3	1	4	1	0	0	0	0	1	0	0	0	1468	1087	38	1	1284	1	BMPER	7	34118628	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	173331	34118628	125020035	1839	3904											
ANLN	54443	broad.mit.edu	37	chr7	36447449	36447449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctattagtcctctgaaaaCgggggtatcgaaaccaattg	9	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:36447449C>T	uc003tff.3	+	4	1184	c.980C>T	c.(979-981)aCg>aTg	p.T327M	ANLN_uc011kaz.2_Missense_Mutation_p.T239M|ANLN_uc003tfg.3_Missense_Mutation_p.T327M|ANLN_uc010kxe.3_Missense_Mutation_p.T327M	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	327	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CCTCTGAAAACGGGGGTATCG	0.393													T	36447449	C	T	36447449	3	4	4	1	0	0	0	0	1	0	0	0	694	536	19	1	998	1	ANLN	7	36447449	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2328821	36447449	122691214	1840	3905											
ELMO1	9844	broad.mit.edu	37	chr7	37253022	37253022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagaacatacagctggtgcGccatctcattgttgatggcc	11	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:37253022G>A	uc022abv.1	-	11	1582	c.872C>T	c.(871-873)gCg>gTg	p.A291V	ELMO1_uc011kbc.2_Missense_Mutation_p.A195V|ELMO1_uc003tfk.2_Missense_Mutation_p.A291V|ELMO1_uc010kxg.2_Missense_Mutation_p.A291V	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	291					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CAGCTGGTGCGCCATCTCATT	0.458													A	37253022	G	A	37253022	3	1	4	1	0	0	0	0	1	0	0	0	5065	1087	38	1	1355	1	ELMO1	7	37253022	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	805573	37253022	121885641	1841	3906											
ELMO1	9844	broad.mit.edu	37	chr7	37264526	37264526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgatggtgatctcctgcGccactttctggtagaggtca	13	11	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:37264526G>A	uc022abv.1	-	8	1369	c.659C>T	c.(658-660)gCg>gTg	p.A220V	ELMO1_uc011kbc.2_Missense_Mutation_p.A124V|ELMO1_uc003tfk.2_Missense_Mutation_p.A220V|ELMO1_uc010kxg.2_Missense_Mutation_p.A220V	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	220					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.A220S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GATCTCCTGCGCCACTTTCTG	0.527													A	37264526	G	A	37264526	3	1	4	1	0	0	0	0	1	0	0	0	5065	1087	38	1	1580	1	ELMO1	7	37264526	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	11504	37264526	121874137	1842	3907											
GPR141	353345	broad.mit.edu	37	chr7	37780303	37780303	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catccacatgtacctcacgtTcctattctatgtggtgatcc	6	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:37780303T>C	uc003tfm.1	+	0	308	c.308T>C	c.(307-309)tTc>tCc	p.F103S	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	103						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T102T(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TACCTCACGTTCCTATTCTAT	0.468													C	37780303	T	C	37780303	3	2	4	1	0	0	0	0	1	0	0	0	6649	1783	62	3	310	3	GPR141	7	37780303	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	515777	37780303	121358360	1843	3908											
SFRP4	6424	broad.mit.edu	37	chr7	37947223	37947223	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccggctgttttcttcttgTcctgaactgttctccgctgt	9	13	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:37947223T>C	uc003tfo.4	-	5	1285	c.899A>G	c.(898-900)gAc>gGc	p.D300G		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	Homo sapiens secreted frizzled-related protein 4 (SFRP4), mRNA.	300	NTR.				Wnt receptor signaling pathway|brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of JNK cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTTCTTCTTGTCCTGAACTGT	0.488													C	37947223	T	C	37947223	3	2	4	1	0	0	0	0	1	0	0	0	14163	1667	58	3	145	3	SFRP4	7	37947223	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	166920	37947223	121191440	1844	3909											
ARPP21	10777	broad.mit.edu	37	chr7	38279756	38279756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggtgtttgtgagctgcaGcagtagtgtatctaagagaa	14	4	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:38279756G>A	uc022aby.1	-	5	708	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	ARPP21_uc003tfu.3_Silent_p.L85L|ARPP21_uc003tfv.3_Silent_p.L85L	NM_001003806	NP_001003806	Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	252						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GTGAGCTGCAGCAGTAGTGTA	0.398													A	38279756	G	A	38279756	2	1	4	1	0	0	0	0	0	0	0	1	978	986	34	2		2	ARPP21	7	38279756	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	332533	38279756	120858907	1845	3910											
INHBA	3624	broad.mit.edu	37	chr7	41729601	41729601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcacactccaagccccGccgacgccggcgatgagggt	12	17	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:41729601G>A	uc003thq.3	-	1	1163	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	INHBA_uc003thr.3_Missense_Mutation_p.R310W	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	310					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TCCAAGCCCCGCCGACGCCGG	0.562										TSP Lung(11;0.080)			A	41729601	G	A	41729601	3	1	4	1	0	0	0	0	1	0	0	0	7741	1086	38	1	356	1	INHBA	7	41729601	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3449845	41729601	117409062	1846	3911											
GLI3	2737	broad.mit.edu	37	chr7	42085021	42085021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccatgtggatggcccccGtgccggcggtggcagctgag	16	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:42085021G>A	uc011kbh.2	-	5	879	c.788C>T	c.(787-789)aCg>aTg	p.T263M	GLI3_uc011kbg.2_Missense_Mutation_p.T204M	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	263					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G262D(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GATGGCCCCCGTGCCGGCGGT	0.527									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				A	42085021	G	A	42085021	3	1	4	1	0	0	0	0	1	0	0	0	6439	1145	40	1	3994	1	GLI3	7	42085021	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	355420	42085021	117053642	1847	3912											
C7orf25	79020	broad.mit.edu	37	chr7	42949911	42949911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagggtgatctaacagagCgttgactgctactatgtctc	10	9	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:42949911C>T	uc003thx.4	-	1	1248	c.763G>A	c.(763-765)Gct>Act	p.A255T	C7orf25_uc010kxq.3_Missense_Mutation_p.A197T|C7orf25_uc010kxr.3_Missense_Mutation_p.A255T|C7orf25_uc022ace.1_Missense_Mutation_p.A197T	NM_001099858	NP_076959	Q9BPX7	CG025_HUMAN	Homo sapiens chromosome 7 open reading frame 25 (C7orf25), transcript variant 1, mRNA.	197										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TCTAACAGAGCGTTGACTGCT	0.458													T	42949911	C	T	42949911	3	4	4	1	0	0	0	0	1	0	0	0	2380	768	27	1	680	1	C7orf25	7	42949911	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	864890	42949911	116188752	1848	3913											
PSMA2	5683	broad.mit.edu	37	chr7	42967003	42967003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaattcccacggacggggCtcctccagctacagcagcca	9	15	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:42967003C>T	uc003thy.3	-	1	145	c.97G>A	c.(97-99)Gcc>Acc	p.A33T	C7orf25_uc010kxr.3_5'UTR|PSMA2_uc003thz.1_Intron	NM_002787	NP_002778	P25787	PSA2_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 2 (PSMA2), mRNA.	33					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						ACGGACGGGGCTCCTCCAGCT	0.358													T	42967003	C	T	42967003	3	4	4	1	0	0	0	0	1	0	0	0	12667	797	28	2	635	2	PSMA2	7	42967003	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	17092	42967003	116171660	1849	3914											
HECW1	23072	broad.mit.edu	37	chr7	43546741	43546741	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctctctgcaggtttaCagagagccagtgcaagagcc	11	11	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:43546741C>T	uc003tid.1	+	21	4242	c.3637C>T	c.(3637-3639)Cag>Tag	p.Q1213*	HECW1_uc011kbi.1_Nonsense_Mutation_p.Q1179*	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1213					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGCAGGTTTACAGAGAGCCAG	0.478													T	43546741	C	T	43546741	4	4	4	1	0	0	0	0	0	1	0	0	7042	479	17	4	3715	4	HECW1	7	43546741	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	579738	43546741	115591922	1850	3915											
HECW1	23072	broad.mit.edu	37	chr7	43580834	43580834	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgacgctttcttcacgagGcccttctacaaggcactcct	7	15	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:43580834G>T	uc003tid.1	+	24	4697	c.4092G>T	c.(4090-4092)agG>agT	p.R1364S	HECW1_uc011kbi.1_Missense_Mutation_p.R1330S	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1364	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCTTCACGAGGCCCTTCTACA	0.552													T	43580834	G	T	43580834	3	4	4	1	0	0	0	0	1	0	0	0	7042	1194	42	5	4182	5	HECW1	7	43580834	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	34093	43580834	115557829	1851	3916											
HECW1	23072	broad.mit.edu	37	chr7	43594297	43594297	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtcacgggaacatccagCgtgccctacgaaggcttcgc	11	13	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:43594297C>T	uc003tid.1	+	28	5222	c.4617C>T	c.(4615-4617)agC>agT	p.S1539S	HECW1_uc011kbi.1_Silent_p.S1505S	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1539	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.S1518R(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GAACATCCAGCGTGCCCTACG	0.557													T	43594297	C	T	43594297	2	4	4	1	0	0	0	0	0	0	0	1	7042	767	27	1		1	HECW1	7	43594297	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	13463	43594297	115544366	1852	3917											
AEBP1	165	broad.mit.edu	37	chr7	44147270	44147270	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccacactggactacaatgAccagatcgagagggaggact	11	11	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:44147270A>G	uc003tkb.3	+	3	1015	c.710A>G	c.(709-711)gAc>gGc	p.D237G		NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	237	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GACTACAATGACCAGATCGAG	0.637													G	44147270	A	G	44147270	3	3	4	1	0	0	0	0	1	0	0	0	349	275	10	3	724	3	AEBP1	7	44147270	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	552973	44147270	114991393	1853	3918											
NUDCD3	23386	broad.mit.edu	37	chr7	44432048	44432048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctccctccaggatggCgttccaccaatactcgccca	6	18	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:44432048C>T	uc003tkz.3	-	4	1009	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	NUDCD3_uc010kye.3_Non-coding_Transcript	NM_015332	NP_056147	Q8IVD9	NUDC3_HUMAN	Homo sapiens NudC domain containing 3 (NUDCD3), mRNA.	275	CS.									endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						TCCAGGATGGCGTTCCACCAA	0.587													T	44432048	C	T	44432048	3	4	4	1	0	0	0	0	1	0	0	0	10724	768	27	1	270	1	NUDCD3	7	44432048	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	284778	44432048	114706615	1854	3919											
DDX56	54606	broad.mit.edu	37	chr7	44611252	44611252	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatacagcaggaggaatttGtcttcctcagtctcacagac	9	11	3	1	rs150750277		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:44611252G>A	uc003tlg.3	-	5	1372	c.729C>T	c.(727-729)gaC>gaT	p.D243D	DDX56_uc003tlh.3_Non-coding_Transcript|DDX56_uc010kyg.3_Silent_p.D243D|DDX56_uc010kyh.1_Non-coding_Transcript	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 (DDX56), mRNA.	243	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|identical protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						GGAGGAATTTGTCTTCCTCAG	0.527													A	44611252	G	A	44611252	2	1	4	1	0	0	0	0	0	0	0	1	4374	1368	48	4		4	DDX56	7	44611252	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	179204	44611252	114527411	1855	3920											
OGDH	4967	broad.mit.edu	37	chr7	44714124	44714124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaagtctagtgagaatggCgtggactacgtgatcatggg	15	6	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:44714124C>T	uc003tln.3	+	6	1062	c.903C>T	c.(901-903)ggC>ggT	p.G301G	OGDH_uc003tlm.3_Silent_p.G301G|OGDH_uc011kbx.2_Silent_p.G297G|OGDH_uc011kby.2_Silent_p.G151G|OGDH_uc003tlp.3_Silent_p.G312G|OGDH_uc011kbz.2_Silent_p.G96G|OGDH_uc003tlo.1_Silent_p.G134G	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	301					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GTGAGAATGGCGTGGACTACG	0.562													T	44714124	C	T	44714124	2	4	4	1	0	0	0	0	0	0	0	1	10839	755	27	1		1	OGDH	7	44714124	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	102872	44714124	114424539	1856	3921											
ZMIZ2	83637	broad.mit.edu	37	chr7	44796067	44796067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgccttggcaacaaagcGccactcagccggctggatcg	12	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:44796067G>A	uc003tlr.3	+	2	217	c.94G>A	c.(94-96)Gcc>Acc	p.A32T	ZMIZ2_uc003tlq.3_Missense_Mutation_p.A32T|ZMIZ2_uc003tls.3_Missense_Mutation_p.A32T	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	32					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCAACAAAGCGCCACTCAGCC	0.597													A	44796067	G	A	44796067	3	1	4	1	0	0	0	0	1	0	0	0	17694	1087	38	1	100	1	ZMIZ2	7	44796067	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	81943	44796067	114342596	1857	3922											
MYO1G	64005	broad.mit.edu	37	chr7	45010231	45010231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagccatagatgtccagcaCgccaatgactgtgtccttgc	10	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:45010231C>T	uc003tmh.2	-	8	1321	c.1177G>A	c.(1177-1179)Gtg>Atg	p.V393M	MYO1G_uc003tmg.2_Missense_Mutation_p.V155M|MYO1G_uc010kym.2_Missense_Mutation_p.V278M|MYO1G_uc003tmi.1_Missense_Mutation_p.V305M|MYO1G_uc022acj.1_5'Flank|MYO1G_uc003tmj.2_Missense_Mutation_p.V155M	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	393	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						ATGTCCAGCACGCCAATGACT	0.587													T	45010231	C	T	45010231	3	4	4	1	0	0	0	0	1	0	0	0	10074	536	19	1	1935	1	MYO1G	7	45010231	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	214164	45010231	114128432	1858	3923											
RAMP3	10268	broad.mit.edu	37	chr7	45222982	45222982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctggcctggtggtgtggCgcagcaaacgcaccgacacg	16	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:45222982C>T	uc003tnb.3	+	2	479	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C		NM_005856	NP_005847	O60896	RAMP3_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA.	140					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	p.R140C(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	GGTGGTGTGGCGCAGCAAACG	0.627													T	45222982	C	T	45222982	3	4	4	1	0	0	0	0	1	0	0	0	13023	768	27	1	428	1	RAMP3	7	45222982	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	212751	45222982	113915681	1859	3924											
ADCY1	107	broad.mit.edu	37	chr7	45662269	45662269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgggtttcacgggcttggCatcccagtgcacagcccagg	14	13	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:45662269C>T	uc003tne.4	+	3	965	c.947C>T	c.(946-948)gCa>gTa	p.A316V	ADCY1_uc003tnd.3_Missense_Mutation_p.A91V	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	316					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ACGGGCTTGGCATCCCAGTGC	0.527													T	45662269	C	T	45662269	3	4	4	1	0	0	0	0	1	0	0	0	292	710	25	2	961	2	ADCY1	7	45662269	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	439287	45662269	113476394	1860	3925											
ADCY1	107	broad.mit.edu	37	chr7	45717589	45717589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgcctcttagaagcccGccagacagagctggagatgg	13	13	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:45717589G>A	uc003tne.4	+	8	1745	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	576					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TTAGAAGCCCGCCAGACAGAG	0.517													A	45717589	G	A	45717589	3	1	4	1	0	0	0	0	1	0	0	0	292	1087	38	1	1761	1	ADCY1	7	45717589	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	55320	45717589	113421074	1861	3926											
TNS3	64759	broad.mit.edu	37	chr7	47409180	47409180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttttcttcctcaccttcgCgtaaaggctgccatcgacag	8	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:47409180C>T	uc003tnw.3	-	16	1421	c.1063G>A	c.(1063-1065)Gcg>Acg	p.A355T	TNS3_uc022acn.1_5'UTR	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	355						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTCACCTTCGCGTAAAGGCTG	0.607													T	47409180	C	T	47409180	3	4	4	1	0	0	0	0	1	0	0	0	16341	768	27	1	3334	1	TNS3	7	47409180	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1691591	47409180	111729483	1862	3927											
PKD1L1	168507	broad.mit.edu	37	chr7	47842892	47842892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgccaggaagatagacGcattttaatgtgaagaggaa	12	4	0	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:47842892G>A	uc003tny.2	-	52	7912	c.7878C>T	c.(7876-7878)tgC>tgT	p.C2626C	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2626					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GAAGATAGACGCATTTTAATG	0.502													A	47842892	G	A	47842892	2	1	4	1	0	0	0	0	0	0	0	1	11964	1079	38	1		1	PKD1L1	7	47842892	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	433712	47842892	111295771	1863	3928											
PKD1L1	168507	broad.mit.edu	37	chr7	47971625	47971625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accactgctccaggcccttgCgattataatgaaaggtttgt	9	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:47971625C>T	uc003tny.2	-	4	461	c.427G>A	c.(427-429)Gca>Aca	p.A143T		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	143					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAGGCCCTTGCGATTATAATG	0.498													T	47971625	C	T	47971625	3	4	4	1	0	0	0	0	1	0	0	0	11964	768	27	1	8334	1	PKD1L1	7	47971625	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	128733	47971625	111167038	1864	3929											
ABCA13	154664	broad.mit.edu	37	chr7	48280633	48280633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacagcttgtcagcagatgGcccaaaagataatcatacat	8	9	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:48280633G>A	uc003toq.2	+	9	1256	c.1232G>A	c.(1231-1233)gGc>gAc	p.G411D	ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	411					transport	integral to membrane	ATP binding|ATPase activity	p.G411D(1)|p.G356D(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCAGCAGATGGCCCAAAAGAT	0.443													A	48280633	G	A	48280633	3	1	4	1	0	0	0	0	1	0	0	0	31	1203	42	2	1099	2	ABCA13	7	48280633	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	309008	48280633	110858030	1865	3930											
ABCA13	154664	broad.mit.edu	37	chr7	48314637	48314637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatcaccaaggaagacttcGcaattgtgataaaaattctt	6	7	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:48314637G>A	uc003toq.2	+	16	5398	c.5374G>A	c.(5374-5376)Gca>Aca	p.A1792T	ABCA13_uc010kyr.2_Missense_Mutation_p.A1295T|ABCA13_uc022acp.1_Missense_Mutation_p.A291T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1792					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGAAGACTTCGCAATTGTGAT	0.388													A	48314637	G	A	48314637	3	1	4	1	0	0	0	0	1	0	0	0	31	1087	38	1	5269	1	ABCA13	7	48314637	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	34004	48314637	110824026	1866	3931											
ABCA13	154664	broad.mit.edu	37	chr7	48318199	48318199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattccctctaagaaacagaGcaacattagaaattactaag	5	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:48318199G>A	uc003toq.2	+	17	7432	c.7408G>A	c.(7408-7410)Gca>Aca	p.A2470T	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2470					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAGAAACAGAGCAACATTAGA	0.373													A	48318199	G	A	48318199	3	1	4	1	0	0	0	0	1	0	0	0	31	971	34	2	7307	2	ABCA13	7	48318199	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3562	48318199	110820464	1867	3932											
ABCA13	154664	broad.mit.edu	37	chr7	48413962	48413962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgccttctttcgacaaccGcctttggacaaggggtattt	10	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:48413962G>A	uc003toq.2	+	33	11176	c.11152G>A	c.(11152-11154)Gcc>Acc	p.A3718T	ABCA13_uc010kys.1_Missense_Mutation_p.A792T|ABCA13_uc003tos.1_Missense_Mutation_p.A544T|ABCA13_uc010kyt.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3718					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCGACAACCGCCTTTGGACA	0.418													A	48413962	G	A	48413962	3	1	4	1	0	0	0	0	1	0	0	0	31	1087	38	1	11115	1	ABCA13	7	48413962	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	95763	48413962	110724701	1868	3933											
ABCA13	154664	broad.mit.edu	37	chr7	48450180	48450180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctgagtgaccgcgtggCcgtcctccagcatgggaggc	16	13	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:48450180C>T	uc003toq.2	+	39	12158	c.12134C>T	c.(12133-12135)gCc>gTc	p.A4045V	ABCA13_uc010kys.1_Missense_Mutation_p.A1119V|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4045	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GACCGCGTGGCCGTCCTCCAG	0.622													T	48450180	C	T	48450180	3	4	4	1	0	0	0	0	1	0	0	0	31	739	26	2	12121	2	ABCA13	7	48450180	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	36218	48450180	110688483	1869	3934											
FIGNL1	63979	broad.mit.edu	37	chr7	50514928	50514928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatatgccagatgtaattgCgaagtaattcttctgccatt	7	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:50514928C>T	uc003tpd.3	-	3	428	c.58G>A	c.(58-60)Gca>Aca	p.A20T	FIGNL1_uc003tpb.3_5'UTR|FIGNL1_uc003tpc.3_Missense_Mutation_p.A20T|FIGNL1_uc003tpe.3_Missense_Mutation_p.A20T|FIGNL1_uc010kyy.3_Missense_Mutation_p.A20T|FIGNL1_uc022ada.1_Missense_Mutation_p.A20T	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	20					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				GATGTAATTGCGAAGTAATTC	0.423													T	50514928	C	T	50514928	3	4	4	1	0	0	0	0	1	0	0	0	5892	768	27	1	1970	1	FIGNL1	7	50514928	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2064748	50514928	108623735	1870	3935											
DDC	1644	broad.mit.edu	37	chr7	50531075	50531075	+	Frame_Shift_Del	DEL	T	T	-													gtgacatggaaccaagtggaTttttttggcactgtttattc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:50531074_50531074AT>A	uc003tpg.4	-	13	1499	c.1298_1298AT>T	c.(1297-1299)atcfs	p.I433fs	DDC_uc022ade.1_Frame_Shift_Del_p.I355fs|DDC_uc003tpf.4_Frame_Shift_Del_p.I433fs|DDC_uc022adb.1_Frame_Shift_Del_p.I395fs|DDC_uc022adc.1_Frame_Shift_Del_p.I385fs|DDC_uc022add.1_Frame_Shift_Del_p.I340fs	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	433					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	AACCAAGTGGATTTTTTTGGC	0.507													-	50531075	T	-	50531075	7	5	4	1	0	1	0	1	0	0	0	0	4325	1493	52	0	149	0	DDC	7	50531075	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	16147	50531075	108607588	1871	3936											
DDC	1644	broad.mit.edu	37	chr7	50611704	50611704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgtcagggtagacctggCgtccctcaatgccttccatg	10	15	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:50611704C>T	uc003tpg.4	-	1	281	c.80G>A	c.(79-81)cGc>cAc	p.R27H	DDC_uc022ade.1_Missense_Mutation_p.R27H|DDC_uc003tpf.4_Missense_Mutation_p.R27H|DDC_uc022adb.1_Missense_Mutation_p.R27H|DDC_uc022adc.1_Missense_Mutation_p.R27H|DDC_uc022add.1_Missense_Mutation_p.R27H|DDC_uc022adf.1_Missense_Mutation_p.R27H	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	27					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GTAGACCTGGCGTCCCTCAAT	0.582													T	50611704	C	T	50611704	3	4	4	1	0	0	0	0	1	0	0	0	4325	768	27	1	1414	1	DDC	7	50611704	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	80629	50611704	108526959	1872	3937											
GRB10	2887	broad.mit.edu	37	chr7	50771543	50771543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattcgcaagtcggtcagaCtgtgcggggagtcctggtcc	15	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:50771543C>T	uc003tpi.2	-	1	160	c.114G>A	c.(112-114)caG>caA	p.Q38Q	GRB10_uc003tph.3_5'UTR|GRB10_uc003tpj.2_Silent_p.Q38Q|GRB10_uc003tpk.2_Silent_p.Q38Q|GRB10_uc010kzb.2_5'UTR|GRB10_uc003tpl.2_Silent_p.Q32Q|GRB10_uc003tpm.2_5'UTR	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	38					insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GTCGGTCAGACTGTGCGGGGA	0.512									Russell-Silver syndrome				T	50771543	C	T	50771543	2	4	4	1	0	0	0	0	0	0	0	1	6756	564	20	4		4	GRB10	7	50771543	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	159839	50771543	108367120	1873	3938											
EGFR	1956	broad.mit.edu	37	chr7	55214312	55214312	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcagaaatcctgcatggCgccgtgcggttcagcaacaa	11	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:55214312C>T	uc003tqk.3	+	3	684	c.438C>T	c.(436-438)ggC>ggT	p.G146G	EGFR_uc003tqh.3_Silent_p.G146G|EGFR_uc003tqi.3_Silent_p.G146G|EGFR_uc003tqj.3_Silent_p.G146G|EGFR_uc022adm.1_Silent_p.G146G|EGFR_uc010kzg.2_Intron|EGFR_uc022adn.1_Intron|EGFR_uc011kco.2_Silent_p.G93G	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	146					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCCTGCATGGCGCCGTGCGGT	0.527		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55214312	C	T	55214312	2	4	4	1	0	0	0	0	0	0	0	1	4967	755	27	1		1	EGFR	7	55214312	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4442769	55214312	103924351	1874	3939											
EGFR	1956	broad.mit.edu	37	chr7	55220348	55220348	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacaggcccccgggagagCgactgcctggtaagatgccc	14	14	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:55220348C>T	uc003tqk.3	+	5	984	c.738C>T	c.(736-738)agC>agT	p.S246S	EGFR_uc003tqh.3_Silent_p.S246S|EGFR_uc003tqi.3_Silent_p.S246S|EGFR_uc003tqj.3_Silent_p.S246S|EGFR_uc022adm.1_Silent_p.S246S|EGFR_uc010kzg.2_Silent_p.S201S|EGFR_uc022adn.1_Silent_p.S201S|EGFR_uc011kco.2_Silent_p.S193S|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	246					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCCGGGAGAGCGACTGCCTGG	0.677		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55220348	C	T	55220348	2	4	4	1	0	0	0	0	0	0	0	1	4967	767	27	1		1	EGFR	7	55220348	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	6036	55220348	103918315	1875	3940											
EGFR	1956	broad.mit.edu	37	chr7	55221829	55221829	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagctttggtgccacctgCgtgaagaagtgtccccgtga	12	11	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:55221829C>T	uc003tqk.3	+	6	1119	c.873C>T	c.(871-873)tgC>tgT	p.C291C	EGFR_uc003tqh.3_Silent_p.C291C|EGFR_uc003tqi.3_Silent_p.C291C|EGFR_uc003tqj.3_Silent_p.C291C|EGFR_uc022adm.1_Silent_p.C291C|EGFR_uc010kzg.2_Silent_p.C246C|EGFR_uc022adn.1_Silent_p.C246C|EGFR_uc011kco.2_Silent_p.C238C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	291					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGCCACCTGCGTGAAGAAGT	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221829	C	T	55221829	2	4	4	1	0	0	0	0	0	0	0	1	4967	776	27	1		1	EGFR	7	55221829	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1481	55221829	103916834	1876	3941											
EGFR	1956	broad.mit.edu	37	chr7	55242511	55242511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagccaacaaggaaatcctcGatgtgagtttctgctttgct	9	9	1	1	rs121913418		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:55242511G>A	uc003tqk.3	+	18	2527	c.2281G>A	c.(2281-2283)Gat>Aat	p.D761N	EGFR_uc022adm.1_Missense_Mutation_p.D761N|EGFR_uc010kzg.2_Missense_Mutation_p.D716N|EGFR_uc022adn.1_Missense_Mutation_p.D716N|EGFR_uc011kco.2_Missense_Mutation_p.D708N	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	761	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.D761Y(11)|p.D761_E762insEAFQ(3)|p.D761G(2)|p.D761N(2)|p.N756_L760del(1)|p.S752_V769del(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGAAATCCTCGATGTGAGTTT	0.498		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55242511	G	A	55242511	3	1	4	1	0	0	0	0	1	0	0	0	4967	1058	37	1	2619	1	EGFR	7	55242511	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	20682	55242511	103896152	1877	3942											
LANCL2	55915	broad.mit.edu	37	chr7	55479775	55479775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccacatgctcatgcaggCgtacaaggtcagtgcttccg	10	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:55479775C>T	uc003tqp.3	+	5	1579	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 2 (bacterial) (LANCL2), mRNA.	334					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|GTP binding|catalytic activity|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			CTCATGCAGGCGTACAAGGTC	0.577													T	55479775	C	T	55479775	3	4	4	1	0	0	0	0	1	0	0	0	8621	768	27	1	1023	1	LANCL2	7	55479775	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	237264	55479775	103658888	1878	3943											
CCT6A	908	broad.mit.edu	37	chr7	56122107	56122107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatagcaaaggtagcaacaGcccaggatgatataactggt	10	7	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:56122107G>A	uc003trl.1	+	2	411	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	PSPH_uc003trh.3_5'Flank|PSPH_uc003tri.3_5'Flank|PSPH_uc003trj.3_Intron|PSPH_uc003trk.1_5'Flank|CCT6A_uc003trm.1_Intron|CCT6A_uc011kcu.1_Missense_Mutation_p.A52T|SNORA22_uc022adt.1_5'Flank	NM_001762	NP_001753	P40227	TCPZ_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6A (zeta 1) (CCT6A), transcript variant 1, mRNA.	83					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGTAGCAACAGCCCAGGATGA	0.383													A	56122107	G	A	56122107	3	1	4	1	0	0	0	0	1	0	0	0	2957	971	34	2	257	2	CCT6A	7	56122107	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	642332	56122107	103016556	1879	3944											
GUSB	2990	broad.mit.edu	37	chr7	65439577	65439577	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatagcggtcacacatctGcatcacttcctctgcatagg	7	15	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:65439577G>A	uc003tun.3	-	6	1311	c.1180C>T	c.(1180-1182)Cag>Tag	p.Q394*	GUSB_uc011kdt.2_Nonsense_Mutation_p.Q248*	NM_000181	NP_000172	P08236	BGLR_HUMAN	Homo sapiens glucuronidase, beta (GUSB), mRNA.	394					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TCACACATCTGCATCACTTCC	0.612													A	65439577	G	A	65439577	4	1	4	1	0	0	0	0	0	1	0	0	6902	1328	46	2	799	2	GUSB	7	65439577	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	9317470	65439577	93699086	1880	3945											
AUTS2	26053	broad.mit.edu	37	chr7	70229815	70229816	+	Frame_Shift_Ins	INS	-	-	C													cacccctctgcctccccgttINSccccctctccctgcccaacc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:70229815_70229816insC	uc003tvw.3	+	8	2035_2036	c.1292_1293insC	c.(1291-1293)TTCfs	p.F431fs	AUTS2_uc003tvx.3_Frame_Shift_Ins_p.F431fs|AUTS2_uc011keg.1_5'Flank	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	431										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		gcctccccgttccccctctccc	0.163													C	70229816	-	C	70229815	7	5	4	1	0	1	1	0	0	0	0	0	1225	1783	62	0	1467	0	AUTS2	7	70229815	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	4790238	70229815	88908848	1881	3946											
AUTS2	26053	broad.mit.edu	37	chr7	70255333	70255333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcctggacaggactcGcatgatgacccccttcatgg	11	14	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:70255333G>A	uc003tvw.4	+	18	3866	c.3131G>A	c.(3130-3132)cGc>cAc	p.R1044H	AUTS2_uc003tvx.4_Missense_Mutation_p.R1020H|AUTS2_uc011keg.2_Missense_Mutation_p.R496H	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	1044								p.R1044H(2)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GACAGGACTCGCATGATGACC	0.662													A	70255333	G	A	70255333	3	1	4	1	0	0	0	0	1	0	0	0	1225	1087	38	1	3350	1	AUTS2	7	70255333	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	25518	70255333	88883330	1882	3947											
WBSCR17	64409	broad.mit.edu	37	chr7	71142200	71142200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctattcttgcagcttcGcaacaacaaggcaaaagacg	8	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:71142200G>A	uc003tvy.3	+	8	1409	c.1409G>A	c.(1408-1410)cGc>cAc	p.R470H	WBSCR17_uc003tvz.3_Missense_Mutation_p.R169H	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	470	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L469F(1)|p.R470C(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TTGCAGCTTCGCAACAACAAG	0.532													A	71142200	G	A	71142200	3	1	4	1	0	0	0	0	1	0	0	0	17261	1087	38	1	1443	1	WBSCR17	7	71142200	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	886867	71142200	87996463	1883	3948											
POM121	9883	broad.mit.edu	37	chr7	72413634	72413634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatctttggcggtgccacGcactcggcgtttgggttgaa	13	11	1	1	rs139238552	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:72413634G>A	uc003twk.2	+	10	3102	c.3102G>A	c.(3100-3102)acG>acA	p.T1034T	POM121_uc003twj.3_Silent_p.T769T|POM121_uc010lam.1_Silent_p.T769T	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	1034	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCGGTGCCACGCACTCGGCGT	0.652													A	72413634	G	A	72413634	2	1	4	1	0	0	0	0	0	0	0	1	12239	1074	38	1		1	POM121	7	72413634	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1271434	72413634	86725029	1884	3949											
NSUN5	55695	broad.mit.edu	37	chr7	72722781	72722781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcagctgcagcatacaGccccatgttcccgcgcgcct	10	18	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:72722781G>A	uc003txw.3	-	0	84	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Silent_p.L3L|NSUN5_uc003txv.3_Silent_p.L3L|NSUN5_uc003txx.3_Silent_p.L3L	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	3							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				GCAGCATACAGCCCCATGTTC	0.662													A	72722781	G	A	72722781	2	1	4	1	0	0	0	0	0	0	0	1	10681	962	34	2		2	NSUN5	7	72722781	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	309147	72722781	86415882	1885	3950											
BAZ1B	9031	broad.mit.edu	37	chr7	72884801	72884801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgttcttcttcagcttggCgttccagtttcactgttaaa	7	10	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:72884801C>T	uc003tyc.3	-	7	2958	c.2606G>A	c.(2605-2607)cGc>cAc	p.R869H		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	869					ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCAGCTTGGCGTTCCAGTTT	0.398													T	72884801	C	T	72884801	3	4	4	1	0	0	0	0	1	0	0	0	1330	768	27	1	1893	1	BAZ1B	7	72884801	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	162020	72884801	86253862	1886	3951											
BAZ1B	9031	broad.mit.edu	37	chr7	72891452	72891452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccttcaacacagcaagcCgttccttccacaactctgca	4	17	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:72891452C>T	uc003tyc.3	-	6	2691	c.2339G>A	c.(2338-2340)cGg>cAg	p.R780Q		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	780					ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CACAGCAAGCCGTTCCTTCCA	0.438													T	72891452	C	T	72891452	3	4	4	1	0	0	0	0	1	0	0	0	1330	652	23	1	2164	1	BAZ1B	7	72891452	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	6651	72891452	86247211	1887	3952											
TBL2	26608	broad.mit.edu	37	chr7	72987764	72987764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtcatcttgaagacacGgagggtgtccccgttggcca	13	11	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:72987764G>A	uc003tyh.3	-	3	618	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	TBL2_uc011kex.2_Missense_Mutation_p.R126C|TBL2_uc010lbg.3_Missense_Mutation_p.R67C|TBL2_uc003tyi.3_5'UTR|TBL2_uc011key.2_Missense_Mutation_p.R33C	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.	162										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTGAAGACACGGAGGGTGTCC	0.577													A	72987764	G	A	72987764	3	1	4	1	0	0	0	0	1	0	0	0	15639	1116	39	1	875	1	TBL2	7	72987764	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	96312	72987764	86150899	1888	3953											
ELN	2006	broad.mit.edu	37	chr7	73474271	73474271	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtggctcctggtgtcggTgtggctcctggagttggctt	18	9	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:73474271T>C	uc003tzw.3	+	22	1579	c.1488T>C	c.(1486-1488)ggT>ggC	p.G496G	ELN_uc003tzn.3_Silent_p.G490G|ELN_uc003tzy.3_Silent_p.G466G|ELN_uc003tzz.3_Silent_p.G409G|ELN_uc003tzo.3_Silent_p.G457G|ELN_uc003tzp.3_Silent_p.G401G|ELN_uc003tzq.3_Silent_p.G354G|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Silent_p.G471G|ELN_uc003tzt.3_Silent_p.G495G|ELN_uc003tzu.3_Silent_p.G476G|ELN_uc003tzv.3_Silent_p.G461G|ELN_uc011kfe.2_Intron|ELN_uc003tzx.3_Silent_p.G480G|ELN_uc011kff.2_Silent_p.G490G	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	519	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CTGGTGTCGGTGTGGCTCCTG	0.602			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						C	73474271	T	C	73474271	2	2	4	1	0	0	0	0	0	0	0	1	5071	1683	59	3		3	ELN	7	73474271	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	486507	73474271	85664392	1889	3954											
LAT2	7462	broad.mit.edu	37	chr7	73636001	73636001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtattacaactgggggCggttctcgaagcccccagaa	13	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:73636001C>T	uc003uag.3	+	9	917	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	LAT2_uc003uah.3_Missense_Mutation_p.R123W|LAT2_uc003uai.3_Missense_Mutation_p.R123W|LAT2_uc010lbo.3_Intron	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN	Homo sapiens linker for activation of T cells family, member 2 (LAT2), transcript variant 1, mRNA.	123					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding	p.R123W(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						CAACTGGGGGCGGTTCTCGAA	0.577													T	73636001	C	T	73636001	3	4	4	1	0	0	0	0	1	0	0	0	8645	759	27	1	397	1	LAT2	7	73636001	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	161730	73636001	85502662	1890	3955											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73944220	73944220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcggatcctggaggagcGccatagtatccacttcatca	11	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:73944220G>A	uc003uaq.3	+	8	1640	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H	GTF2IRD1_uc010lbq.3_Missense_Mutation_p.R448H|GTF2IRD1_uc003uap.3_Missense_Mutation_p.R416H|GTF2IRD1_uc003uar.1_Missense_Mutation_p.R416H	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	416						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.R416H(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGGAGGAGCGCCATAGTATC	0.607													A	73944220	G	A	73944220	3	1	4	1	0	0	0	0	1	0	0	0	6868	1087	38	1	1277	1	GTF2IRD1	7	73944220	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	308219	73944220	85194443	1891	3956											
POM121C	100101267	broad.mit.edu	37	chr7	75068501	75068501	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgccactgctatcatggcGcctgcgacaaatcaaaaaag	8	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:75068501G>A	uc003udk.4	-	6	1113	c.228_splice	c.e6-1	p.R76_splice	POM121C_uc010lde.1_Splice_Site_p.R318_splice	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	318	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CTATCATGGCGCCTGCGACAA	0.458													A	75068501	G	A	75068501	5	1	4	1	0	0	0	0	0	0	1	0	12240	1101	38	1	2774	1	POM121C	7	75068501	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1124281	75068501	84070162	1892	3957											
SPDYE5	442590	broad.mit.edu	37	chr7	75130895	75130895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttaggccgttccatgaaccCgagggccaggaagaaccgct	13	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:75130895C>T	uc011kfy.2	+	5	906	c.770C>T	c.(769-771)cCg>cTg	p.P257L	DQ601342_uc022agh.1_5'Flank	NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	Homo sapiens speedy homolog E5 (Xenopus laevis) (SPDYE5), mRNA.	257	Arg-rich.																TCCATGAACCCGAGGGCCAGG	0.592													T	75130895	C	T	75130895	3	4	4	1	0	0	0	0	1	0	0	0	15031	652	23	1	792	1	SPDYE5	7	75130895	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	62394	75130895	84007768	1893	3958											
RHBDD2	57414	broad.mit.edu	37	chr7	75517323	75517323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccagactgaacccggtgCctggctcctaccccacacag	8	17	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:75517323C>T	uc003udw.1	+	3	835	c.751C>T	c.(751-753)Cct>Tct	p.P251S	RHBDD2_uc003udv.1_Missense_Mutation_p.P110S	NM_001040456	NP_001035547	Q6NTF9	RHBD2_HUMAN	Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 1, mRNA.	251						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						GAACCCGGTGCCTGGCTCCTA	0.597													T	75517323	C	T	75517323	3	4	4	1	0	0	0	0	1	0	0	0	13317	739	26	2	765	2	RHBDD2	7	75517323	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	386428	75517323	83621340	1894	3959											
RSBN1L	222194	broad.mit.edu	37	chr7	77407902	77407902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgaggagggaaggcattcGctatgccaggattcagctat	13	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:77407902G>A	uc010ldt.1	+	7	2002	c.1958G>A	c.(1957-1959)cGc>cAc	p.R653H		NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	653						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAAGGCATTCGCTATGCCAGG	0.348													A	77407902	G	A	77407902	3	1	4	1	0	0	0	0	1	0	0	0	13697	1087	38	1	1988	1	RSBN1L	7	77407902	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1890579	77407902	81730761	1895	3960											
MAGI2	9863	broad.mit.edu	37	chr7	77824371	77824371	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgccttgattctcccatcGgtccattatctgaaaagtga	7	11	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:77824371G>A	uc003ugx.3	-	11	2343	c.2089C>T	c.(2089-2091)Cga>Tga	p.R697*	MAGI2_uc003ugy.3_Nonsense_Mutation_p.R697*|MAGI2_uc010ldx.1_Nonsense_Mutation_p.R306*|MAGI2_uc010ldy.1_Nonsense_Mutation_p.R306*	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	697						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTCTCCCATCGGTCCATTATC	0.478													A	77824371	G	A	77824371	4	1	4	1	0	0	0	0	0	1	0	0	9191	1124	39	1	2322	1	MAGI2	7	77824371	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	416469	77824371	81314292	1896	3961											
GNAT3	346562	broad.mit.edu	37	chr7	80088124	80088124	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atcttctttttttaaattcaGgtctagaaactggttcttga	6	6	5	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:80088124G>C	uc011kgu.2	-	7	928	c.928C>G	c.(928-930)Ctg>Gtg	p.L310V	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	310					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TTTAAATTCAGGTCTAGAAAC	0.323													C	80088124	G	C	80088124	3	2	4	1	0	0	0	0	1	0	0	0	6513	991	35	5	138	5	GNAT3	7	80088124	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2263753	80088124	79050539	1897	3962											
CACNA2D1	781	broad.mit.edu	37	chr7	81588645	81588645	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcggtatctgggttgcttAaccatgtcacaaggatttgg	11	7	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:81588645A>G	uc003uhr.1	-	37	3361	c.3105T>C	c.(3103-3105)gtT>gtC	p.V1035V	CACNA2D1_uc011kgy.1_Silent_p.V247V	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	1047						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TGGGTTGCTTAACCATGTCAC	0.343													G	81588645	A	G	81588645	2	3	4	1	0	0	0	0	0	0	0	1	2548	349	13	3		3	CACNA2D1	7	81588645	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1500521	81588645	77550018	1898	3963											
PCLO	27445	broad.mit.edu	37	chr7	82545507	82545507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgtgaaggacattgttGccacagcttggaatgttggc	15	6	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:82545507G>A	uc003uhx.2	-	6	12084	c.11795C>T	c.(11794-11796)gCa>gTa	p.A3932V	PCLO_uc003uhv.2_Missense_Mutation_p.A3932V|PCLO_uc010lec.3_Missense_Mutation_p.A897V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3863					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGACATTGTTGCCACAGCTTG	0.458													A	82545507	G	A	82545507	3	1	4	1	0	0	0	0	1	0	0	0	11583	1319	46	2	3726	2	PCLO	7	82545507	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	956862	82545507	76593156	1899	3964											
PCLO	27445	broad.mit.edu	37	chr7	82581328	82581328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatccctctataaccatatgGccctgatcgatcatactgat	5	12	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:82581328G>A	uc003uhx.2	-	4	9230	c.8941C>T	c.(8941-8943)Cca>Tca	p.P2981S	PCLO_uc003uhv.2_Missense_Mutation_p.P2981S|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2912					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAACCATATGGCCCTGATCGA	0.433													A	82581328	G	A	82581328	3	1	4	1	0	0	0	0	1	0	0	0	11583	1203	42	2	6588	2	PCLO	7	82581328	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	35821	82581328	76557335	1900	3965											
SEMA3A	10371	broad.mit.edu	37	chr7	83590759	83590759	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttattttcttgtaagtgCttccatttgttactgttccc	5	9	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:83590759C>A	uc003uhz.3	-	16	2559	c.2244G>T	c.(2242-2244)aaG>aaT	p.K748N		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	748	Arg/Lys-rich (basic).				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTTGTAAGTGCTTCCATTTGT	0.458													A	83590759	C	A	83590759	3	1	4	1	0	0	0	0	1	0	0	0	14024	796	28	5	75	5	SEMA3A	7	83590759	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1009431	83590759	75547904	1901	3966											
GRM3	2913	broad.mit.edu	37	chr7	86415724	86415724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccatggctgagatcttgCgcttcttcaactggacctac	9	12	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:86415724C>T	uc003uid.3	+	2	1715	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	GRM3_uc010lef.3_Missense_Mutation_p.R204C|GRM3_uc010leg.3_Missense_Mutation_p.R78C|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	206					synaptic transmission	integral to plasma membrane		p.R206C(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGAGATCTTGCGCTTCTTCAA	0.577													T	86415724	C	T	86415724	3	4	4	1	0	0	0	0	1	0	0	0	6798	768	27	1	622	1	GRM3	7	86415724	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2824965	86415724	72722939	1902	3967											
KIAA1324L	222223	broad.mit.edu	37	chr7	86542475	86542475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatcaactgcattagtggCtgtgatagaataaatcttca	7	9	3	2	rs140423520	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:86542475C>T	uc011kha.2	-	13	1962	c.1777G>A	c.(1777-1779)Gcc>Acc	p.A593T	KIAA1324L_uc003uie.3_Missense_Mutation_p.A426T|KIAA1324L_uc011kgz.2_Missense_Mutation_p.A479T|KIAA1324L_uc003uif.2_Missense_Mutation_p.A345T	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	593						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GCATTAGTGGCTGTGATAGAA	0.488													T	86542475	C	T	86542475	3	4	4	1	0	0	0	0	1	0	0	0	8224	797	28	2	1348	2	KIAA1324L	7	86542475	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	126751	86542475	72596188	1903	3968											
KIAA1324L	222223	broad.mit.edu	37	chr7	86542523	86542523	+	Splice_Site	DEL	A	A	-													attgatgaaccgtctattctAaaaaaaagagcataaagtaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:86542522_86542522TA>T	uc011kha.2	-	14	1917	c.1732_splice	c.e14-1	p.N578_splice	KIAA1324L_uc003uie.3_Splice_Site_p.N411_splice|KIAA1324L_uc011kgz.2_Splice_Site_p.N464_splice|KIAA1324L_uc003uif.2_Splice_Site_p.N330_splice	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	578						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCGTCTATTCTAAAAAAAAGA	0.413													-	86542523	A	-	86542523	8	5	4	1	0	1	0	1	0	0	1	0	8224	377	13	0		0	KIAA1324L	7	86542523	Splice_Site	DEL	A	TCGA-BR-4184-01A-01D-1126-08	48	86542523	72596140	1904	3969											
CROT	54677	broad.mit.edu	37	chr7	87006753	87006753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttctaatggagtatttgGctgtaattgtgatgtaagta	10	3	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:87006753G>A	uc003uiu.3	+	10	1294	c.1049G>A	c.(1048-1050)gGc>gAc	p.G350D	CROT_uc003uit.3_Missense_Mutation_p.G322D	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	322					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GGAGTATTTGGCTGTAATTGT	0.323													A	87006753	G	A	87006753	3	1	4	1	0	0	0	0	1	0	0	0	3894	1203	42	2	1083	2	CROT	7	87006753	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	464230	87006753	72131910	1905	3970											
CROT	54677	broad.mit.edu	37	chr7	87027909	87027909	+	Frame_Shift_Del	DEL	T	T	-													gaaaagctagttcagctgacTttttgtgcttttcatgatat							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:87027908_87027908CT>C	uc003uiu.3	+	18	2116	c.1871_1871CT>C	c.(1870-1872)actfs	p.T624fs	CROT_uc003uit.3_Frame_Shift_Del_p.T596fs	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	596					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GTTCAGCTGACTTTTTGTGCT	0.373													-	87027909	T	-	87027909	7	5	4	1	0	1	0	1	0	0	0	0	3894	1596	56	0	1938	0	CROT	7	87027909	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	21156	87027909	72110754	1906	3971											
ABCB1	5243	broad.mit.edu	37	chr7	87160729	87160729	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagagtaacagtgttagttGccaaccatagatgaaggata	10	5	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:87160729G>A	uc003uiz.2	-	21	3059	c.2566C>T	c.(2566-2568)Caa>Taa	p.Q856*	ABCB1_uc011khc.2_Nonsense_Mutation_p.Q792*	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	856	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AGTGTTAGTTGCCAACCATAG	0.373													A	87160729	G	A	87160729	4	1	4	1	0	0	0	0	0	1	0	0	40	1328	46	2	1308	2	ABCB1	7	87160729	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	132820	87160729	71977934	1907	3972											
DBF4	10926	broad.mit.edu	37	chr7	87533646	87533646	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagaaactttgcacagagtAaccagtatcaagttgttgat	8	7	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:87533646A>G	uc003ujf.1	+	10	1468	c.964A>G	c.(964-966)Aac>Gac	p.N322D	DBF4_uc003ujh.1_Missense_Mutation_p.N62D|DBF4_uc003ujg.1_Missense_Mutation_p.N98D|DBF4_uc011khf.1_Missense_Mutation_p.N89D	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	Homo sapiens DBF4 homolog (S. cerevisiae) (DBF4), mRNA.	322					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TGCACAGAGTAACCAGTATCA	0.289													G	87533646	A	G	87533646	3	3	4	1	0	0	0	0	1	0	0	0	4248	362	13	3	1006	3	DBF4	7	87533646	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	372917	87533646	71605017	1908	3973											
CDK14	5218	broad.mit.edu	37	chr7	90747451	90747451	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcatgcgggcctttgggAaaaacaatagttatggcaaa	11	6	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:90747451A>G	uc003uky.2	+	13	1588	c.1366A>G	c.(1366-1368)Aaa>Gaa	p.K456E	CDK14_uc003ukz.1_Missense_Mutation_p.K438E|CDK14_uc010les.1_Missense_Mutation_p.K410E|CDK14_uc011khl.1_Missense_Mutation_p.K327E	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	456					G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GGCCTTTGGGAAAAACAATAG	0.418													G	90747451	A	G	90747451	3	3	4	1	0	0	0	0	1	0	0	0	3130	247	9	3	1362	3	CDK14	7	90747451	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	3213805	90747451	68391212	1909	3974											
MTERF	7978	broad.mit.edu	37	chr7	91503707	91503707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaaagattctcgggagtaCgtgttattgctcgtggatat	12	5	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:91503707C>T	uc003ulc.1	-	2	477	c.401G>A	c.(400-402)cGt>cAt	p.R134H	MTERF_uc010let.1_Intron|MTERF_uc011khm.1_Missense_Mutation_p.R114H|MTERF_uc010leu.1_Missense_Mutation_p.R114H	NM_006980	NP_008911	Q99551	MTERF_HUMAN	Homo sapiens mitochondrial transcription termination factor (MTERF), nuclear gene encoding mitochondrial protein, mRNA.	134					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			CTCGGGAGTACGTGTTATTGC	0.408													T	91503707	C	T	91503707	3	4	4	1	0	0	0	0	1	0	0	0	9918	536	19	1	802	1	MTERF	7	91503707	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	756256	91503707	67634956	1910	3975											
AKAP9	10142	broad.mit.edu	37	chr7	91652318	91652318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttagtgagtccacggttccGccaaggtattcatctgctta	10	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:91652318G>A	uc003ulg.3	+	13	4368	c.4143G>A	c.(4141-4143)ccG>ccA	p.P1381P	AKAP9_uc003ule.2_Silent_p.P1393P|AKAP9_uc003ulf.3_Silent_p.P1381P|AKAP9_uc003uli.3_Silent_p.P1006P	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1393					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCACGGTTCCGCCAAGGTATT	0.378			T	BRAF	papillary thyroid								A	91652318	G	A	91652318	2	1	4	1	0	0	0	0	0	0	0	1	459	1074	38	1		1	AKAP9	7	91652318	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	148611	91652318	67486345	1911	3976											
AKAP9	10142	broad.mit.edu	37	chr7	91718798	91718798	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcacaaatgaatggtaggAaaattactctgaaaagagaa	9	4	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:91718798A>G	uc003ulg.3	+	37	9538	c.9313A>G	c.(9313-9315)Aaa>Gaa	p.K3105E	AKAP9_uc003ulf.3_Missense_Mutation_p.K3097E|AKAP9_uc003uli.3_Missense_Mutation_p.K2728E|AKAP9_uc003ulj.3_Missense_Mutation_p.K875E|AKAP9_uc003ulk.3_Missense_Mutation_p.K380E|AKAP9_uc003ull.3_5'Flank	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3109					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAATGGTAGGAAAATTACTCT	0.393			T	BRAF	papillary thyroid								G	91718798	A	G	91718798	3	3	4	1	0	0	0	0	1	0	0	0	459	247	9	3	9463	3	AKAP9	7	91718798	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	66480	91718798	67419865	1912	3977											
AKAP9	10142	broad.mit.edu	37	chr7	91737871	91737871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttctcagcttcagaattaCgatcctgacagagccctaac	7	12	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:91737871C>T	uc003ulg.3	+	48	11835	c.11610C>T	c.(11608-11610)taC>taT	p.Y3870Y	AKAP9_uc003ulf.3_Silent_p.Y3862Y|AKAP9_uc003uli.3_Silent_p.Y3493Y|AKAP9_uc003ulj.3_Silent_p.Y1640Y|AKAP9_uc003ull.3_Silent_p.Y766Y	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3874					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTCAGAATTACGATCCTGACA	0.418			T	BRAF	papillary thyroid								T	91737871	C	T	91737871	2	4	4	1	0	0	0	0	0	0	0	1	459	547	19	1		1	AKAP9	7	91737871	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	19073	91737871	67400792	1913	3978											
SAMD9	54809	broad.mit.edu	37	chr7	92732197	92732197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccgatggatactttcaaGcaatacagcttcaactgctt	7	10	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:92732197G>A	uc003umf.3	-	2	3484	c.3214C>T	c.(3214-3216)Ctt>Ttt	p.L1072F	SAMD9_uc003umg.3_Missense_Mutation_p.L1072F|SAMD9_uc022ahg.1_Missense_Mutation_p.L1072F	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1072						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATACTTTCAAGCAATACAGCT	0.388													A	92732197	G	A	92732197	3	1	4	1	0	0	0	0	1	0	0	0	13826	971	34	2	1559	2	SAMD9	7	92732197	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	994326	92732197	66406466	1914	3979											
HEPACAM2	253012	broad.mit.edu	37	chr7	92848701	92848701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggacgggtaggtagaggGcctgacctctgacgccatgg	17	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:92848701G>A	uc011khy.2	-	2	235	c.212C>T	c.(211-213)gCc>gTc	p.A71V	HEPACAM2_uc003uml.3_Missense_Mutation_p.A36V|HEPACAM2_uc010lff.3_Missense_Mutation_p.A36V|HEPACAM2_uc003umm.3_Missense_Mutation_p.A48V	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	48						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TAGGTAGAGGGCCTGACCTCT	0.517													A	92848701	G	A	92848701	3	1	4	1	0	0	0	0	1	0	0	0	7053	1203	42	2	1281	2	HEPACAM2	7	92848701	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	116504	92848701	66289962	1915	3980											
TFPI2	7980	broad.mit.edu	37	chr7	93519977	93519977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatcgacagccccagggggCgagcggggtccatggtgcag	18	11	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:93519977C>T	uc003umy.1	-	0	89	c.14G>A	c.(13-15)cGc>cAc	p.R5H	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Missense_Mutation_p.R5H|TFPI2_uc003una.1_Missense_Mutation_p.R5H	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	5					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CCCCAGGGGGCGAGCGGGGTC	0.692													T	93519977	C	T	93519977	3	4	4	1	0	0	0	0	1	0	0	0	15806	768	27	1	713	1	TFPI2	7	93519977	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	671276	93519977	65618686	1916	3981											
COL1A2	1278	broad.mit.edu	37	chr7	94057646	94057646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaaggatgcactatggatGctatcaaagtatactgtgat	9	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:94057646G>A	uc003ung.1	+	49	4039	c.3568G>A	c.(3568-3570)Gct>Act	p.A1190T	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	1190	Fibrillar collagen NC1.				Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CACTATGGATGCTATCAAAGT	0.418										HNSCC(75;0.22)			A	94057646	G	A	94057646	3	1	4	1	0	0	0	0	1	0	0	0	3678	1319	46	2	3766	2	COL1A2	7	94057646	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	537669	94057646	65081017	1917	3982											
ASB4	51666	broad.mit.edu	37	chr7	95157128	95157128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaatttccctttataggggCgaatgtgaacatgaagacca	9	8	1	3	rs138454369		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:95157128C>T	uc011kij.2	+	2	562	c.491C>T	c.(490-492)gCg>gTg	p.A164V	ASB4_uc003unx.3_Missense_Mutation_p.A164V	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA.	164					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TTTATAGGGGCGAATGTGAAC	0.438											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	95157128	C	T	95157128	3	4	4	1	0	0	0	0	1	0	0	0	1025	768	27	1	501	1	ASB4	7	95157128	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1099482	95157128	63981535	1918	3983											
ASB4	51666	broad.mit.edu	37	chr7	95157168	95157168	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaaccaagatgaggagacGcccttgcacacggctgccca	10	14	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:95157168G>A	uc011kij.2	+	2	602	c.531G>A	c.(529-531)acG>acA	p.T177T	ASB4_uc003unx.3_Silent_p.T177T	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA.	177					intracellular signal transduction			p.T177T(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			ATGAGGAGACGCCCTTGCACA	0.498											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	95157168	G	A	95157168	2	1	4	1	0	0	0	0	0	0	0	1	1025	1074	38	1		1	ASB4	7	95157168	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	40	95157168	63981495	1919	3984											
TECPR1	25851	broad.mit.edu	37	chr7	97850998	97850998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatccagggcatacaccgaCgtctgccccgcggacacctg	10	17	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:97850998C>T	uc003upg.3	-	22	3337	c.3132G>A	c.(3130-3132)acG>acA	p.T1044T		NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	1044						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CATACACCGACGTCTGCCCCG	0.552													T	97850998	C	T	97850998	2	4	4	1	0	0	0	0	0	0	0	1	15740	523	19	1		1	TECPR1	7	97850998	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2693830	97850998	61287665	1920	3985											
NPTX2	4885	broad.mit.edu	37	chr7	98254261	98254261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctttaagtcaccagatgCgttcaaggtgtccctcccac	8	15	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:98254261C>T	uc003upl.2	+	2	848	c.671C>T	c.(670-672)gCg>gTg	p.A224V		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	224					synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TCACCAGATGCGTTCAAGGTG	0.602													T	98254261	C	T	98254261	3	4	4	1	0	0	0	0	1	0	0	0	10603	768	27	1	681	1	NPTX2	7	98254261	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	403263	98254261	60884402	1921	3986											
TRRAP	8295	broad.mit.edu	37	chr7	98478778	98478778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcccaaaagaaaaatggCgtttgttgcaacacaggggg	12	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:98478778C>T	uc003upp.3	+	1	214	c.5C>T	c.(4-6)gCg>gTg	p.A2V	TRRAP_uc011kis.2_Missense_Mutation_p.A2V|MIR3609_uc022ahx.1_5'Flank	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGAAAAATGGCGTTTGTTGCA	0.443													T	98478778	C	T	98478778	3	4	4	1	0	0	0	0	1	0	0	0	16598	768	27	1	7	1	TRRAP	7	98478778	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	224517	98478778	60659885	1922	3987											
TRRAP	8295	broad.mit.edu	37	chr7	98519385	98519385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgattttcaggctctgtggCgcaccttacgcaaccctgct	9	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:98519385C>T	uc003upp.3	+	20	2841	c.2632C>T	c.(2632-2634)Cgc>Tgc	p.R878C	TRRAP_uc011kis.2_Missense_Mutation_p.R878C|TRRAP_uc003upr.3_Missense_Mutation_p.R570C	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	878			R -> L (in dbSNP:rs17161510).		histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCTCTGTGGCGCACCTTACG	0.532													T	98519385	C	T	98519385	3	4	4	1	0	0	0	0	1	0	0	0	16598	768	27	1	2710	1	TRRAP	7	98519385	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	40607	98519385	60619278	1923	3988											
TRRAP	8295	broad.mit.edu	37	chr7	98522829	98522829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcaaatgcttcctggtggCcatgatgagcctggaggaca	13	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:98522829C>T	uc003upp.3	+	21	3127	c.2918C>T	c.(2917-2919)gCc>gTc	p.A973V	TRRAP_uc011kis.2_Missense_Mutation_p.A973V|TRRAP_uc003upr.3_Missense_Mutation_p.A665V	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	973					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.A973A(1)|p.A973S(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTCCTGGTGGCCATGATGAGC	0.557													T	98522829	C	T	98522829	3	4	4	1	0	0	0	0	1	0	0	0	16598	739	26	2	3000	2	TRRAP	7	98522829	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3444	98522829	60615834	1924	3989											
TRRAP	8295	broad.mit.edu	37	chr7	98528336	98528337	+	Frame_Shift_Ins	INS	-	-	G													aggcgtggtatgcaaagctgINSgggggtgtggtgtctattaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:98528335_98528336T>TG	uc003upp.3	+	24	3682_3683	c.3473_3474T>TG	c.(3472-3474)ctgfs	p.L1158fs	TRRAP_uc011kis.2_Frame_Shift_Ins_p.L1158fs|TRRAP_uc003upr.3_Frame_Shift_Ins_p.L850fs	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1158					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TATGCAAAGCTGGGGGGTGTGG	0.505													G	98528337	-	G	98528336	7	5	4	1	0	1	1	0	0	0	0	0	16598	1335	47	0	3568	0	TRRAP	7	98528336	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	5507	98528336	60610327	1925	3990											
TRRAP	8295	broad.mit.edu	37	chr7	98528370	98528370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctattaagtttctcatggagCggctgcctctcacttgggtt	10	10	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:98528370C>T	uc003upp.3	+	24	3717	c.3508C>T	c.(3508-3510)Cgg>Tgg	p.R1170W	TRRAP_uc011kis.2_Missense_Mutation_p.R1170W|TRRAP_uc003upr.3_Missense_Mutation_p.R862W	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1170					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTCATGGAGCGGCTGCCTCT	0.507													T	98528370	C	T	98528370	3	4	4	1	0	0	0	0	1	0	0	0	16598	759	27	1	3602	1	TRRAP	7	98528370	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	34	98528370	60610293	1926	3991											
TRRAP	8295	broad.mit.edu	37	chr7	98586514	98586514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcggcagctgcacctgggCgtgtctgccatcacctgcta	13	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:98586514C>T	uc003upp.3	+	61	9737	c.9528C>T	c.(9526-9528)ggC>ggT	p.G3176G	TRRAP_uc011kis.2_Silent_p.G3147G|TRRAP_uc003upr.3_Silent_p.G2864G	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3176	FAT.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCACCTGGGCGTGTCTGCCA	0.562													T	98586514	C	T	98586514	2	4	4	1	0	0	0	0	0	0	0	1	16598	755	27	1		1	TRRAP	7	98586514	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	58144	98586514	60552149	1927	3992											
SMURF1	57154	broad.mit.edu	37	chr7	98655043	98655043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagtgtttggttcttacatCcggtatcttttaatctgctg	8	7	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:98655043C>T	uc003upu.2	-	3	675	c.335G>A	c.(334-336)gGa>gAa	p.G112E	SMURF1_uc003upv.2_Missense_Mutation_p.G112E|SMURF1_uc003upt.3_Missense_Mutation_p.G112E	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 1 (SMURF1), transcript variant 1, mRNA.	112					BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	I-SMAD binding|R-SMAD binding|activin binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GTTCTTACATCCGGTATCTTT	0.453													T	98655043	C	T	98655043	3	4	4	1	0	0	0	0	1	0	0	0	14819	855	30	4	2002	4	SMURF1	7	98655043	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	68529	98655043	60483620	1928	3993											
ZSCAN21	7589	broad.mit.edu	37	chr7	99662020	99662020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagcttcagtcagcatgCgggcctcagctcccaccaga	11	14	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:99662020C>T	uc003uso.3	+	3	1346	c.1202C>T	c.(1201-1203)gCg>gTg	p.A401V	ZSCAN21_uc003usn.1_Missense_Mutation_p.R366W|ZNF3_uc003usp.3_3'UTR	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	Homo sapiens zinc finger and SCAN domain containing 21 (ZSCAN21), mRNA.	401					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGTCAGCATGCGGGCCTCAGC	0.522													T	99662020	C	T	99662020	3	4	4	1	0	0	0	0	1	0	0	0	18230	768	27	1	1212	1	ZSCAN21	7	99662020	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1006977	99662020	59476643	1929	3994											
STAG3	10734	broad.mit.edu	37	chr7	99808640	99808640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctgcttggcagggcctgCcaagcctaacagagaggacg	13	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:99808640C>T	uc003utx.1	+	29	3400	c.3245C>T	c.(3244-3246)gCc>gTc	p.A1082V	STAG3_uc011kjk.1_Missense_Mutation_p.A1024V|GATS_uc010lgt.3_Intron|GATS_uc003uty.4_Intron|GATS_uc003utz.4_Intron|GATS_uc003uua.4_Intron|STAG3_uc003uub.1_Missense_Mutation_p.A306V	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	1082					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGGGCCTGCCAAGCCTAAC	0.577													T	99808640	C	T	99808640	3	4	4	1	0	0	0	0	1	0	0	0	15243	739	26	2	3359	2	STAG3	7	99808640	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	146620	99808640	59330023	1930	3995											
PILRB	29990	broad.mit.edu	37	chr7	99950995	99950995	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatcctccttcccccgcgcaGgcacccagccaggcctccca	8	22	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:99950995G>T	uc003uum.1	+	6		c.664_splice	c.e6-1		PILRB_uc022aim.1_Intron			Q9UKJ0	PILRB_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 1, non-coding RNA.						activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCCCGCGCAGGCACCCAGCC	0.652													T	99950995	G	T	99950995	5	4	4	1	0	0	0	0	0	0	1	0	11926	1014	35	5		5	PILRB	7	99950995	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	142355	99950995	59187668	1931	3996											
GNB2	2783	broad.mit.edu	37	chr7	100275127	100275127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgctccgcaggtccacGccatcccgctgcgctcctcc	8	23	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100275127G>A	uc003uwb.3	+	5	547	c.274G>A	c.(274-276)Gcc>Acc	p.A92T	GNB2_uc003uwf.3_5'UTR	NM_005273	NP_005264	P62879	GBB2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 2 (GNB2), mRNA.	92					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				GCAGGTCCACGCCATCCCGCT	0.677													A	100275127	G	A	100275127	3	1	4	1	0	0	0	0	1	0	0	0	6517	1087	38	1	292	1	GNB2	7	100275127	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	324132	100275127	58863536	1932	3997											
GNB2	2783	broad.mit.edu	37	chr7	100275393	100275393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtacctgtcgtgttgccGcttcctggatgacaaccaaa	11	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100275393G>A	uc003uwb.3	+	6	722	c.449G>A	c.(448-450)cGc>cAc	p.R150H	GNB2_uc003uwf.3_Missense_Mutation_p.R50H	NM_005273	NP_005264	P62879	GBB2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 2 (GNB2), mRNA.	150					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				TCGTGTTGCCGCTTCCTGGAT	0.627													A	100275393	G	A	100275393	3	1	4	1	0	0	0	0	1	0	0	0	6517	1087	38	1	471	1	GNB2	7	100275393	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	266	100275393	58863270	1933	3998											
ZAN	7455	broad.mit.edu	37	chr7	100352914	100352914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgtgcaagagccccaggCctagctgtgggcccctctgt	12	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100352914C>T	uc003uwj.3	+	14	3355	c.3190C>T	c.(3190-3192)Cct>Tct	p.P1064S	ZAN_uc003uwk.3_Missense_Mutation_p.P1064S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1064	TIL 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GAGCCCCAGGCCTAGCTGTGG	0.557													T	100352914	C	T	100352914	3	4	4	1	0	0	0	0	1	0	0	0	17510	739	26	2	3244	2	ZAN	7	100352914	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	77521	100352914	58785749	1934	3999											
ZAN	7455	broad.mit.edu	37	chr7	100389759	100389759	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagacggtggccccagaGcccttccaagagtgagtcat	11	14	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100389759G>A	uc003uwj.3	+	41	7863	c.7698G>A	c.(7696-7698)gaG>gaA	p.E2566E	ZAN_uc003uwk.3_Silent_p.E2566E|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.S560N	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2567					binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGGCCCCAGAGCCCTTCCAAG	0.667													A	100389759	G	A	100389759	2	1	4	1	0	0	0	0	0	0	0	1	17510	962	34	2		2	ZAN	7	100389759	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	36845	100389759	58748904	1935	4000											
EPHB4	2050	broad.mit.edu	37	chr7	100421410	100421410	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagcatggtgaagcgcagCgtggcgtacacgtggacggc	17	10	0	1	rs150582750		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100421410C>T	uc003uwn.1	-	2	758	c.267G>A	c.(265-267)acG>acA	p.T89T	EPHB4_uc003uwm.1_5'UTR|EPHB4_uc010lhj.1_Silent_p.T89T|EPHB4_uc011kkf.1_Silent_p.T89T|EPHB4_uc011kkg.1_Silent_p.T89T|EPHB4_uc011kkh.1_Silent_p.T89T	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	89					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGAAGCGCAGCGTGGCGTACA	0.672													T	100421410	C	T	100421410	2	4	4	1	0	0	0	0	0	0	0	1	5177	755	27	1		1	EPHB4	7	100421410	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	31651	100421410	58717253	1936	4001											
SLC12A9	56996	broad.mit.edu	37	chr7	100459098	100459098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttcctcatcagtcctggCgcggctggtggctccctgct	12	14	2	0	rs113249714	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100459098C>T	uc003uwp.3	+	10	1570	c.1428C>T	c.(1426-1428)ggC>ggT	p.G476G	SLC12A9_uc003uwq.3_Silent_p.G387G|SLC12A9_uc011kki.2_Silent_p.G7G|SLC12A9_uc003uwr.3_Silent_p.G212G|SLC12A9_uc003uws.3_Silent_p.G7G|SLC12A9_uc003uwt.3_Silent_p.G212G|SLC12A9_uc003uwv.3_Silent_p.G7G	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	476						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCAGTCCTGGCGCGGCTGGTG	0.667													T	100459098	C	T	100459098	2	4	4	1	0	0	0	0	0	0	0	1	14390	755	27	1		1	SLC12A9	7	100459098	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	37688	100459098	58679565	1937	4002											
SLC12A9	56996	broad.mit.edu	37	chr7	100460410	100460410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaccctctcaccctccgtgCgccagggggctcagcatctg	10	17	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100460410C>T	uc003uwp.3	+	12	1961	c.1819C>T	c.(1819-1821)Cgc>Tgc	p.R607C	SLC12A9_uc003uwq.3_Missense_Mutation_p.R518C|SLC12A9_uc011kki.2_Missense_Mutation_p.R138C|SLC12A9_uc003uwr.3_Missense_Mutation_p.R343C|SLC12A9_uc003uws.3_Missense_Mutation_p.R138C|SLC12A9_uc003uwt.3_Missense_Mutation_p.R343C|SLC12A9_uc003uwv.3_Missense_Mutation_p.R138C	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	607						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					ACCCTCCGTGCGCCAGGGGGC	0.637													T	100460410	C	T	100460410	3	4	4	1	0	0	0	0	1	0	0	0	14390	768	27	1	1865	1	SLC12A9	7	100460410	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1312	100460410	58678253	1938	4003											
SRRT	51593	broad.mit.edu	37	chr7	100485018	100485018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcactctcagaggaagagGcccagaagatggggcgcaaa	14	9	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100485018G>A	uc003uwy.2	+	15	2320	c.2053G>A	c.(2053-2055)Gcc>Acc	p.A685T	SRRT_uc010lhl.1_Missense_Mutation_p.A684T|SRRT_uc003uxa.2_Missense_Mutation_p.A684T|SRRT_uc003uwz.2_Missense_Mutation_p.A685T	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	685					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGAGGAAGAGGCCCAGAAGAT	0.562													A	100485018	G	A	100485018	3	1	4	1	0	0	0	0	1	0	0	0	15171	1203	42	2	2111	2	SRRT	7	100485018	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	24608	100485018	58653645	1939	4004											
ACHE	43	broad.mit.edu	37	chr7	100491577	100491577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacactctggaaggttgtagCgtctaccacccctgaccaag	10	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100491577C>T	uc003uxd.3	-	0	433	c.277G>A	c.(277-279)Gct>Act	p.A93T	ACHE_uc003uxe.3_Missense_Mutation_p.A93T|ACHE_uc003uxf.3_Missense_Mutation_p.A93T|ACHE_uc003uxg.3_Missense_Mutation_p.A93T|ACHE_uc003uxh.3_Missense_Mutation_p.A93T|ACHE_uc003uxi.3_Missense_Mutation_p.A93T|ACHE_uc003uxj.1_Missense_Mutation_p.A212T	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	93					DNA replication|acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	Golgi apparatus|anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	AAGGTTGTAGCGTCTACCACC	0.592													T	100491577	C	T	100491577	3	4	4	1	0	0	0	0	1	0	0	0	141	768	27	1	1718	1	ACHE	7	100491577	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	6559	100491577	58647086	1940	4005											
MUC17	140453	broad.mit.edu	37	chr7	100675395	100675395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggtggccagttcagaggCtatcacccttttgacaactc	10	11	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100675395C>T	uc003uxp.1	+	2	751	c.698C>T	c.(697-699)gCt>gTt	p.A233V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	233	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTTCAGAGGCTATCACCCTT	0.488													T	100675395	C	T	100675395	3	4	4	1	0	0	0	0	1	0	0	0	9974	797	28	2	708	2	MUC17	7	100675395	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	183818	100675395	58463268	1941	4006											
MUC17	140453	broad.mit.edu	37	chr7	100676841	100676841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaacaactcctgttgacaCcagcacacctgtgaccactt	5	15	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100676841C>T	uc003uxp.1	+	2	2197	c.2144C>T	c.(2143-2145)aCc>aTc	p.T715I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	715	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGTTGACACCAGCACACCT	0.498													T	100676841	C	T	100676841	3	4	4	1	0	0	0	0	1	0	0	0	9974	507	18	4	2154	4	MUC17	7	100676841	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1446	100676841	58461822	1942	4007											
MUC17	140453	broad.mit.edu	37	chr7	100679587	100679587	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaactcctagtgaaggaagTcctctattaacaagtatacc	6	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100679587T>C	uc003uxp.1	+	2	4943	c.4890T>C	c.(4888-4890)agT>agC	p.S1630S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1630	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGAAGGAAGTCCTCTATTAA	0.493													C	100679587	T	C	100679587	2	2	4	1	0	0	0	0	0	0	0	1	9974	1664	58	3		3	MUC17	7	100679587	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	2746	100679587	58459076	1943	4008											
MUC17	140453	broad.mit.edu	37	chr7	100684849	100684849	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttatctcctacaactgcTgaaggtaccagcataccaac	6	12	1	1	rs35584551		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100684849T>C	uc003uxp.1	+	2	10205	c.10152T>C	c.(10150-10152)gcT>gcC	p.A3384A	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3384	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTACAACTGCTGAAGGTACCA	0.507													C	100684849	T	C	100684849	2	2	4	1	0	0	0	0	0	0	0	1	9974	1567	55	3		3	MUC17	7	100684849	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	5262	100684849	58453814	1944	4009											
CUX1	1523	broad.mit.edu	37	chr7	101559425	101559425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccaccgcaacggtattgGcgaaccggcaggatgaaagt	13	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:101559425G>A	uc003uys.4	+	1	221	c.94G>A	c.(94-96)Gcg>Acg	p.A32T	CUX1_uc003uyw.3_Missense_Mutation_p.A32T|CUX1_uc003uyv.3_Missense_Mutation_p.A32T|CUX1_uc003uyt.3_Missense_Mutation_p.A32T|CUX1_uc003uyu.3_Missense_Mutation_p.A32T|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.A21T	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	21					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AACGGTATTGGCGAACCGGCA	0.517													A	101559425	G	A	101559425	3	1	4	1	0	0	0	0	1	0	0	0	4064	1203	42	2	134	2	CUX1	7	101559425	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	874576	101559425	57579238	1945	4010											
CUX1	1523	broad.mit.edu	37	chr7	101917564	101917564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagagcccatcaaagaggCcactgccctattctacggta	8	15	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:101917564C>T	uc003uyt.3	+	15	1560	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V	CUX1_uc003uyw.3_Missense_Mutation_p.A432V|CUX1_uc003uyv.3_Missense_Mutation_p.A462V|CUX1_uc003uyu.3_Missense_Mutation_p.A476V|CUX1_uc011kkn.2_Missense_Mutation_p.A439V	NM_001913	NP_001904	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 2, mRNA.	311					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ATCAAAGAGGCCACTGCCCTA	0.602													T	101917564	C	T	101917564	3	4	4	1	0	0	0	0	1	0	0	0	4064	739	26	2	4865	2	CUX1	7	101917564	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	358139	101917564	57221099	1946	4011											
LRWD1	222229	broad.mit.edu	37	chr7	102106665	102106665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaggtcaatggcaaggatgCgtcctcaacttactctcagg	10	10	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:102106665C>T	uc003uzn.3	+	2	518	c.380C>T	c.(379-381)gCg>gTg	p.A127V	ALKBH4_uc003uzl.3_5'Flank|ALKBH4_uc003uzm.3_5'Flank	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.	127					DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GGCAAGGATGCGTCCTCAACT	0.542													T	102106665	C	T	102106665	3	4	4	1	0	0	0	0	1	0	0	0	9047	768	27	1	390	1	LRWD1	7	102106665	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	189101	102106665	57031998	1947	4012											
SLC26A5	375611	broad.mit.edu	37	chr7	103030938	103030938	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcagaatcattaatgaggCcaaacaacctgcaagctgaa	8	10	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:103030938C>A	uc003vbz.3	-	11	1511	c.1249G>T	c.(1249-1251)Gcc>Tcc	p.A417S	SLC26A5_uc003vbt.2_Missense_Mutation_p.A417S|SLC26A5_uc003vbu.2_Missense_Mutation_p.A417S|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Intron|SLC26A5_uc003vbx.3_Missense_Mutation_p.A417S	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	417					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.L416F(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						ATTAATGAGGCCAAACAACCT	0.408													A	103030938	C	A	103030938	3	1	4	1	0	0	0	0	1	0	0	0	14520	739	26	5	1062	5	SLC26A5	7	103030938	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	924273	103030938	56107725	1948	4013											
RELN	5649	broad.mit.edu	37	chr7	103629618	103629618	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtagtaggtggggttgccCgcaatatgcagggaaatgag	16	6	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:103629618C>T	uc022ajr.1	-	0	346	c.186G>A	c.(184-186)gcG>gcA	p.A62A	RELN_uc022ajq.1_Silent_p.A62A|RELN_uc010liz.3_Silent_p.A62A	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	62	Reelin.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGGGGTTGCCCGCAATATGCA	0.637													T	103629618	C	T	103629618	2	4	4	1	0	0	0	0	0	0	0	1	13220	639	23	1		1	RELN	7	103629618	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	598680	103629618	55509045	1949	4014											
MLL5	55904	broad.mit.edu	37	chr7	104747108	104747108	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggacccatcttttgccacGcctccacggataaaatcaga	7	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:104747108G>A	uc003vcm.3	+	19	3270	c.2736G>A	c.(2734-2736)acG>acA	p.T912T	MLL5_uc010ljc.3_Silent_p.T912T|MLL5_uc010lje.1_Intron|MLL5_uc010ljf.1_5'Flank|MLL5_uc010ljg.3_5'Flank|MLL5_uc010ljh.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	912					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						CTTTTGCCACGCCTCCACGGA	0.443													A	104747108	G	A	104747108	2	1	4	1	0	0	0	0	0	0	0	1	9624	1074	38	1		1	MLL5	7	104747108	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1117490	104747108	54391555	1950	4015											
MLL5	55904	broad.mit.edu	37	chr7	104753201	104753201	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcggtcacccctgggtcGcatattcattctcaaactgc	8	14	3	0	rs147477523		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:104753201G>A	uc003vcm.3	+	26	5532	c.4998G>A	c.(4996-4998)tcG>tcA	p.S1666S	MLL5_uc010ljc.3_Silent_p.S1666S|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.3_Silent_p.S400S	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	1666	Pro-rich.				DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						CCCCTGGGTCGCATATTCATT	0.582													A	104753201	G	A	104753201	2	1	4	1	0	0	0	0	0	0	0	1	9624	1074	38	1		1	MLL5	7	104753201	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	6093	104753201	54385462	1951	4016											
SRPK2	6733	broad.mit.edu	37	chr7	104783607	104783607	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacctctgggcagtattcGccatcctggtcattggaagg	11	11	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:104783607G>A	uc003vct.3	-	8	1138	c.951C>T	c.(949-951)ggC>ggT	p.G317G	SRPK2_uc003vcu.3_Silent_p.G317G|SRPK2_uc003vcv.3_Silent_p.G328G|SRPK2_uc003vcw.1_Silent_p.G317G	NM_182691	NP_872633	P78362	SRPK2_HUMAN	Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 2, mRNA.	317	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.G317D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GGCAGTATTCGCCATCCTGGT	0.502													A	104783607	G	A	104783607	2	1	4	1	0	0	0	0	0	0	0	1	15159	1074	38	1		1	SRPK2	7	104783607	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	30406	104783607	54355056	1952	4017											
SRPK2	6733	broad.mit.edu	37	chr7	104807824	104807824	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcaggaagtaaaggatacGtatcccattcatgcctgaaa	8	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:104807824G>A	uc003vct.3	-	5	668	c.481_splice	c.e5+1	p.H161_splice	SRPK2_uc003vcu.3_Splice_Site_p.H161_splice|SRPK2_uc003vcv.3_Splice_Site_p.H172_splice|SRPK2_uc003vcw.1_Splice_Site_p.H161_splice	NM_182691	NP_872633	P78362	SRPK2_HUMAN	Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 2, mRNA.	161	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TAAAGGATACGTATCCCATTC	0.368													A	104807824	G	A	104807824	5	1	4	1	0	0	0	0	0	0	1	0	15159	1159	40	1	1629	1	SRPK2	7	104807824	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	24217	104807824	54330839	1953	4018											
CDHR3	222256	broad.mit.edu	37	chr7	105662698	105662698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggttccaatgtcacacGcctgctgcttacatctcgct	8	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:105662698G>A	uc003vdl.4	+	13	1988	c.1880G>A	c.(1879-1881)cGc>cAc	p.R627H	CDHR3_uc003vdk.3_Intron|CDHR3_uc003vdm.4_Missense_Mutation_p.R614H|CDHR3_uc011klt.2_Missense_Mutation_p.R539H|CDHR3_uc003vdn.3_Intron	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	627	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AATGTCACACGCCTGCTGCTT	0.438													A	105662698	G	A	105662698	3	1	4	1	0	0	0	0	1	0	0	0	3120	1087	38	1	1934	1	CDHR3	7	105662698	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	854874	105662698	53475965	1954	4019											
HBP1	26959	broad.mit.edu	37	chr7	106827054	106827054	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggaagcaataaggaatgGcaagatgttgaagattttgc	13	3	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:106827054G>A	uc003vdy.3	+	5	879	c.693G>A	c.(691-693)tgG>tgA	p.W231*	HBP1_uc011klv.2_Nonsense_Mutation_p.W241*|HBP1_uc003vdz.3_Nonsense_Mutation_p.W231*|HBP1_uc003vea.3_Nonsense_Mutation_p.W231*|HBP1_uc003veb.1_Nonsense_Mutation_p.W231*	NM_012257	NP_036389	O60381	HBP1_HUMAN	Homo sapiens HMG-box transcription factor 1 (HBP1), transcript variant 2, mRNA.	231	AXH.				Wnt receptor signaling pathway|cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						ATAAGGAATGGCAAGATGTTG	0.373													A	106827054	G	A	106827054	4	1	4	1	0	0	0	0	0	1	0	0	6985	1212	42	2	711	2	HBP1	7	106827054	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1164356	106827054	52311609	1955	4020											
GPR22	2845	broad.mit.edu	37	chr7	107115658	107115658	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaagtaaaatgaaaaagCgagttgtttctatagtagaa	9	2	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:107115658C>T	uc003vef.3	+	2	2499	c.1153C>T	c.(1153-1155)Cga>Tga	p.R385*	COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron|GPR22_uc022ajv.1_Nonsense_Mutation_p.R385*	NM_005295	NP_005286	Q99680	GPR22_HUMAN	Homo sapiens G protein-coupled receptor 22 (GPR22), mRNA.	385						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						AATGAAAAAGCGAGTTGTTTC	0.313													T	107115658	C	T	107115658	4	4	4	1	0	0	0	0	0	1	0	0	6682	760	27	1	1155	1	GPR22	7	107115658	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	288604	107115658	52023005	1956	4021											
SLC26A4	5172	broad.mit.edu	37	chr7	107323732	107323732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccattgtcgtctgtatggCagttaaggaattaaatgatc	9	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:107323732C>T	uc003vep.3	+	6	1075	c.851C>T	c.(850-852)gCa>gTa	p.A284V		NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	284					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GTCTGTATGGCAGTTAAGGAA	0.353									Pendred syndrome				T	107323732	C	T	107323732	3	4	4	1	0	0	0	0	1	0	0	0	14519	710	25	2	873	2	SLC26A4	7	107323732	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	208074	107323732	51814931	1957	4022											
SLC26A4	5172	broad.mit.edu	37	chr7	107334884	107334884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcgattgtgatgatcGccattcttgccctggggaag	13	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:107334884G>A	uc003vep.3	+	10	1524	c.1300G>A	c.(1300-1302)Gcc>Acc	p.A434T	SLC26A4_uc011kmb.2_Missense_Mutation_p.A21T|SLC26A4_uc011kmc.2_Intron|SLC26A4_uc011kmd.2_Missense_Mutation_p.A3T	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	434					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGTGATGATCGCCATTCTTGC	0.498									Pendred syndrome				A	107334884	G	A	107334884	3	1	4	1	0	0	0	0	1	0	0	0	14519	1087	38	1	1338	1	SLC26A4	7	107334884	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	11152	107334884	51803779	1958	4023											
LAMB1	3912	broad.mit.edu	37	chr7	107605020	107605020	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccaagttggcttcctccgCttcatagaggtagtgatcca	9	13	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:107605020C>A	uc003vev.2	-	11	1908	c.1747G>T	c.(1747-1749)Gcg>Tcg	p.A583S	LAMB1_uc003vew.2_Missense_Mutation_p.A559S|LAMB1_uc003vex.3_Missense_Mutation_p.A559S|LAMB1_uc010ljn.1_Missense_Mutation_p.A645S	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	559	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTTCCTCCGCTTCATAGAGG	0.532													A	107605020	C	A	107605020	3	1	4	1	0	0	0	0	1	0	0	0	8610	797	28	5	3769	5	LAMB1	7	107605020	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	270136	107605020	51533643	1959	4024											
LAMB4	22798	broad.mit.edu	37	chr7	107671311	107671311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaactttcgcattgacagcGtggtcttgatgcctttgcaa	10	9	1	3	rs138458523		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:107671311G>A	uc010ljo.1	-	31	5016	c.4932C>T	c.(4930-4932)caC>caT	p.H1644H	LAMB4_uc003vey.2_Silent_p.H1644H|LAMB4_uc010ljp.1_Silent_p.H613H	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1644	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CATTGACAGCGTGGTCTTGAT	0.522													A	107671311	G	A	107671311	2	1	4	1	0	0	0	0	0	0	0	1	8613	1136	40	1		1	LAMB4	7	107671311	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	66291	107671311	51467352	1960	4025											
LRRN3	54674	broad.mit.edu	37	chr7	110762901	110762902	+	Frame_Shift_Ins	INS	-	-	A													actagtacaagctgtagataINSaaaaagtggattgtccacgg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:110762900_110762901T>TA	uc003vft.4	+	3	1118_1119	c.72_73T>TA	c.(70-75)gataaafs	p.D24fs	IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Frame_Shift_Ins_p.D24fs|LRRN3_uc003vfs.4_Frame_Shift_Ins_p.D24fs|LRRN3_uc022akc.1_Frame_Shift_Ins_p.D24fs	NM_001099660	NP_060804	Q9H3W5	LRRN3_HUMAN	Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA.	24	LRRNT.		D -> G (in dbSNP:rs9942557).			integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AAGCTGTAGATAAAAAAGTGGA	0.401													A	110762902	-	A	110762901	7	5	4	1	0	1	1	0	0	0	0	0	9036	363	13	0	75	0	LRRN3	7	110762901	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	3091590	110762901	48375762	1961	4026											
DOCK4	9732	broad.mit.edu	37	chr7	111407090	111407090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatccaggcaccttacccGcatcttgctcaggtttctgt	8	14	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:111407090G>A	uc003vfy.3	-	38	4290	c.4021C>T	c.(4021-4023)Cgg>Tgg	p.R1341W	DOCK4_uc011kml.2_Missense_Mutation_p.R177W|DOCK4_uc011kmm.2_Missense_Mutation_p.R203W|DOCK4_uc003vfw.3_Missense_Mutation_p.R746W|DOCK4_uc003vfx.3_Missense_Mutation_p.R1296W	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1296	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CACCTTACCCGCATCTTGCTC	0.443													A	111407090	G	A	111407090	3	1	4	1	0	0	0	0	1	0	0	0	4689	1086	38	1	2078	1	DOCK4	7	111407090	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	644189	111407090	47731573	1962	4027											
DOCK4	9732	broad.mit.edu	37	chr7	111409619	111409619	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttctggatgatggtgaggTgcaggtgctctttgcgctgc	16	7	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:111409619T>C	uc003vfy.3	-	37	4171	c.3902A>G	c.(3901-3903)cAc>cGc	p.H1301R	DOCK4_uc011kml.2_Missense_Mutation_p.H137R|DOCK4_uc011kmm.2_Missense_Mutation_p.H163R|DOCK4_uc003vfw.3_Missense_Mutation_p.H706R|DOCK4_uc003vfx.3_Missense_Mutation_p.H1256R	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1256	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GATGGTGAGGTGCAGGTGCTC	0.562													C	111409619	T	C	111409619	3	2	4	1	0	0	0	0	1	0	0	0	4689	1696	59	3	2201	3	DOCK4	7	111409619	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	2529	111409619	47729044	1963	4028											
DOCK4	9732	broad.mit.edu	37	chr7	111617195	111617195	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtgcaggtacctgattggCcggttctctttactgtcaaa	10	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:111617195C>T	uc003vfy.3	-	7	962	c.693G>A	c.(691-693)cgG>cgA	p.R231R	DOCK4_uc003vfx.3_Silent_p.R231R|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Silent_p.R231R	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	231					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACCTGATTGGCCGGTTCTCTT	0.443													T	111617195	C	T	111617195	2	4	4	1	0	0	0	0	0	0	0	1	4689	726	26	2		2	DOCK4	7	111617195	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	207576	111617195	47521468	1964	4029											
DOCK4	9732	broad.mit.edu	37	chr7	111629103	111629103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagccgggcagtaatgtggCgcttcacgtccttcatccgg	12	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:111629103C>T	uc003vfy.3	-	5	700	c.431G>A	c.(430-432)cGc>cAc	p.R144H	DOCK4_uc003vfx.3_Missense_Mutation_p.R144H|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.R144H	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	144					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding	p.E143Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AGTAATGTGGCGCTTCACGTC	0.577													T	111629103	C	T	111629103	3	4	4	1	0	0	0	0	1	0	0	0	4689	768	27	1	5657	1	DOCK4	7	111629103	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	11908	111629103	47509560	1965	4030											
DOCK4	9732	broad.mit.edu	37	chr7	111629121	111629121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcttcacgtccttcatcCggtcgtgggtgaggtggccc	15	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:111629121C>T	uc003vfy.3	-	5	682	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	DOCK4_uc003vfx.3_Missense_Mutation_p.R138Q|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.R138Q	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	138					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTCCTTCATCCGGTCGTGGGT	0.567													T	111629121	C	T	111629121	3	4	4	1	0	0	0	0	1	0	0	0	4689	652	23	1	5675	1	DOCK4	7	111629121	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	18	111629121	47509542	1966	4031											
TMEM168	64418	broad.mit.edu	37	chr7	112424684	112424684	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagaccaagaataaaaattAccaaaattaaggaatttgct	5	5	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:112424684A>G	uc003vgn.3	-	1	589	c.197T>C	c.(196-198)gTa>gCa	p.V66A	TMEM168_uc010lju.3_Missense_Mutation_p.V66A|TMEM168_uc011kmr.2_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	Homo sapiens transmembrane protein 168 (TMEM168), mRNA.	66						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AATAAAAATTACCAAAATTAA	0.343													G	112424684	A	G	112424684	3	3	4	1	0	0	0	0	1	0	0	0	16080	391	14	3	1912	3	TMEM168	7	112424684	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	795563	112424684	46713979	1967	4032											
GPR85	54329	broad.mit.edu	37	chr7	112724294	112724294	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctaatgaatgagtaagtGcccacgtctaaaaccggggg	11	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:112724294G>A	uc010ljv.2	-	1	1000	c.483C>T	c.(481-483)ggC>ggT	p.G161G	GPR85_uc003vgp.1_Silent_p.G161G|GPR85_uc003vgq.2_Silent_p.G161G|GPR85_uc010ljw.1_Silent_p.G161G|GPR85_uc022akd.1_Silent_p.G161G	NM_001146266	NP_061843	P60893	GPR85_HUMAN	Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.	161						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						ATGAGTAAGTGCCCACGTCTA	0.488													A	112724294	G	A	112724294	2	1	4	1	0	0	0	0	0	0	0	1	6715	1306	46	2		2	GPR85	7	112724294	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	299610	112724294	46414369	1968	4033											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558291	113558291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgattttacctttaagcagCcttttatttgtctgttagga	7	6	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:113558291C>T	uc010ljy.1	-	0	792	c.761G>A	c.(760-762)gGc>gAc	p.G254D		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	254					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTTAAGCAGCCTTTTATTTG	0.294													T	113558291	C	T	113558291	3	4	4	1	0	0	0	0	1	0	0	0	12371	739	26	2	2623	2	PPP1R3A	7	113558291	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	833997	113558291	45580372	1969	4034											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558550	113558550	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgctaaaatgtcataatgtgTctgccagtcatctaaagaca	7	8	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:113558550T>A	uc010ljy.1	-	0	533	c.502A>T	c.(502-504)Aca>Tca	p.T168S		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	168	CBM21.				glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCATAATGTGTCTGCCAGTCA	0.343													A	113558550	T	A	113558550	3	1	4	1	0	0	0	0	1	0	0	0	12371	1667	58	5	2882	5	PPP1R3A	7	113558550	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	259	113558550	45580113	1970	4035											
MET	4233	broad.mit.edu	37	chr7	116340097	116340097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttaatatacttcaggctgCgtatgtcagcaagcctgggg	12	8	2	0	rs35776110	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:116340097C>T	uc003vij.3	+	1	1146	c.959C>T	c.(958-960)gCg>gTg	p.A320V	MET_uc022akk.1_Missense_Mutation_p.A320V|MET_uc010lkh.3_Missense_Mutation_p.A320V|MET_uc011knc.1_Missense_Mutation_p.A320V|MET_uc011knd.2_Missense_Mutation_p.A320V|MET_uc011knf.2_Missense_Mutation_p.A320V|MET_uc011kne.2_Missense_Mutation_p.A320V|MET_uc011kng.1_Missense_Mutation_p.A320V|MET_uc011knh.1_Missense_Mutation_p.A320V|MET_uc011kni.2_Missense_Mutation_p.A320V|MET_uc003vii.1_Missense_Mutation_p.A339V|MET_uc010lkg.3_Missense_Mutation_p.A320V|MET_uc011kmz.1_Missense_Mutation_p.A320V|MET_uc011kna.1_Missense_Mutation_p.A320V|MET_uc011knb.1_Missense_Mutation_p.A320V	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	320	Sema.		A -> V (in dbSNP:rs35776110).		axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTTCAGGCTGCGTATGTCAGC	0.453			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				T	116340097	C	T	116340097	3	4	4	1	0	0	0	0	1	0	0	0	9485	768	27	1	961	1	MET	7	116340097	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2781547	116340097	42798566	1971	4036											
MET	4233	broad.mit.edu	37	chr7	116340317	116340317	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagcatttttacggacccaaTcatgagcactgctttaatag	7	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:116340317T>A	uc003vij.3	+	1	1366	c.1179T>A	c.(1177-1179)aaT>aaA	p.N393K	MET_uc022akk.1_Missense_Mutation_p.N393K|MET_uc010lkh.3_Missense_Mutation_p.N393K|MET_uc011knc.1_Missense_Mutation_p.N393K|MET_uc011knd.2_Missense_Mutation_p.N393K|MET_uc011knf.2_Missense_Mutation_p.N393K|MET_uc011kne.2_Missense_Mutation_p.N393K|MET_uc011kng.1_Missense_Mutation_p.N393K|MET_uc011knh.1_Missense_Mutation_p.N393K|MET_uc011kni.2_Missense_Mutation_p.N393K|MET_uc003vii.1_Missense_Mutation_p.N412K|MET_uc010lkg.3_Missense_Mutation_p.N393K|MET_uc011kmz.1_Missense_Mutation_p.N393K|MET_uc011kna.1_Missense_Mutation_p.N393K|MET_uc011knb.1_Missense_Mutation_p.N393K	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	393	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ACGGACCCAATCATGAGCACT	0.378			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				A	116340317	T	A	116340317	3	1	4	1	0	0	0	0	1	0	0	0	9485	1432	50	5	1181	5	MET	7	116340317	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	220	116340317	42798346	1972	4037											
MET	4233	broad.mit.edu	37	chr7	116417481	116417481	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatgggactttgttggacAatgatggcaagaaaattcac	10	6	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:116417481A>G	uc003vij.3	+	15	3485	c.3298A>G	c.(3298-3300)Aat>Gat	p.N1100D	MET_uc010lkh.3_Missense_Mutation_p.N1118D|MET_uc011knj.2_Missense_Mutation_p.N670D	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1100	Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.N1118Y(1)|p.Q1029_G1105del(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTGTTGGACAATGATGGCAA	0.333			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				G	116417481	A	G	116417481	3	3	4	1	0	0	0	0	1	0	0	0	9485	130	5	3	3410	3	MET	7	116417481	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	77164	116417481	42721182	1973	4038											
CTTNBP2	83992	broad.mit.edu	37	chr7	117501313	117501313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagctccccttccatcaCgctgaggagcatccgcagct	8	18	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:117501313C>T	uc003vjf.3	-	1	231	c.139G>A	c.(139-141)Gtg>Atg	p.V47M		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	47										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCTTCCATCACGCTGAGGAGC	0.473													T	117501313	C	T	117501313	3	4	4	1	0	0	0	0	1	0	0	0	4045	536	19	1	4940	1	CTTNBP2	7	117501313	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1083832	117501313	41637350	1974	4039											
KCND2	3751	broad.mit.edu	37	chr7	119915461	119915461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagtcgttaccgttttgtgCgtagtgtcatgagtatcatc	10	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:119915461C>T	uc003vjj.1	+	0	1740	c.775C>T	c.(775-777)Cgt>Tgt	p.R259C		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	259					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CCGTTTTGTGCGTAGTGTCAT	0.527													T	119915461	C	T	119915461	3	4	4	1	0	0	0	0	1	0	0	0	8019	768	27	1	777	1	KCND2	7	119915461	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2414148	119915461	39223202	1975	4040											
C7orf58	79974	broad.mit.edu	37	chr7	120764394	120764394	+	Frame_Shift_Del	DEL	T	T	-													tttgttcacagctgcaaacaTtttttgagacattcctgaga							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:120764393_120764393AT>A	uc003vjq.4	+	7	1374	c.927_927AT>A	c.(925-927)acafs	p.T309fs	C7orf58_uc003vjr.1_Frame_Shift_Del_p.T309fs|C7orf58_uc003vjs.4_Frame_Shift_Del_p.T309fs|C7orf58_uc003vjt.4_Frame_Shift_Del_p.T89fs|C7orf58_uc010lkk.2_Frame_Shift_Del_p.T89fs	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	309						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					AGCTGCAAACATTTTTTGAGA	0.398													-	120764394	T	-	120764394	7	5	4	1	0	1	0	1	0	0	0	0	2405	1493	52	0	954	0	C7orf58	7	120764394	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	848933	120764394	38374269	1976	4041											
CADPS2	93664	broad.mit.edu	37	chr7	122261687	122261687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaagactttccaaattggCcattagcaaattcactgaag	8	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:122261687C>T	uc022akp.1	-	4	1374	c.952G>A	c.(952-954)Gcc>Acc	p.A318T	CADPS2_uc003vkg.4_Missense_Mutation_p.A18T|CADPS2_uc022akq.1_Missense_Mutation_p.A318T|CADPS2_uc010lkq.3_Missense_Mutation_p.A318T|CADPS2_uc022akr.1_Missense_Mutation_p.A318T	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	318					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TCCAAATTGGCCATTAGCAAA	0.328													T	122261687	C	T	122261687	3	4	4	1	0	0	0	0	1	0	0	0	2571	739	26	2	3086	2	CADPS2	7	122261687	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1497293	122261687	36876976	1977	4042											
IQUB	154865	broad.mit.edu	37	chr7	123109382	123109382	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctctgatggtgaactgCgtatccatctcaattgtttt	9	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:123109382C>T	uc003vkn.3	-	8	2044	c.1467G>A	c.(1465-1467)acG>acA	p.T489T	IQUB_uc003vko.3_Silent_p.T489T|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Silent_p.T489T	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	489										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGGTGAACTGCGTATCCATCT	0.348													T	123109382	C	T	123109382	2	4	4	1	0	0	0	0	0	0	0	1	7820	755	27	1		1	IQUB	7	123109382	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	847695	123109382	36029281	1978	4043											
ASB15	142685	broad.mit.edu	37	chr7	123269456	123269456	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacaggaagaggtgctgccaGgatggacatcttgtgtaata	13	6	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:123269456G>T	uc003vku.1	+	9	1700	c.1408G>T	c.(1408-1410)Gga>Tga	p.G470*	ASB15_uc003vkw.1_Nonsense_Mutation_p.G470*	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	470					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GGTGCTGCCAGGATGGACATC	0.383													T	123269456	G	T	123269456	4	4	4	1	0	0	0	0	0	1	0	0	1019	1001	35	5	1434	5	ASB15	7	123269456	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	160074	123269456	35869207	1979	4044											
SPAM1	6677	broad.mit.edu	37	chr7	123593822	123593822	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttggaaaatttgatgaGccactagatatgagcctctt	9	7	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:123593822G>T	uc003vle.3	+	2	637	c.198G>T	c.(196-198)gaG>gaT	p.E66D	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.E66D|SPAM1_uc022aks.1_Missense_Mutation_p.E66D|SPAM1_uc003vlf.4_Missense_Mutation_p.E66D|SPAM1_uc010lku.3_Missense_Mutation_p.E66D	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	66					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AATTTGATGAGCCACTAGATA	0.443													T	123593822	G	T	123593822	3	4	4	1	0	0	0	0	1	0	0	0	14986	962	34	5	200	5	SPAM1	7	123593822	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	324366	123593822	35544841	1980	4045											
POT1	25913	broad.mit.edu	37	chr7	124482994	124482994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcacatagtggtgtcctctCcaaatactgatgatctgtaa	9	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:124482994C>T	uc003vlm.3	-	12	1631	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	POT1_uc011koe.2_Non-coding_Transcript|POT1_uc003vlk.3_Non-coding_Transcript|POT1_uc003vll.3_Non-coding_Transcript|POT1_uc003vln.3_Non-coding_Transcript|POT1_uc003vlo.3_Missense_Mutation_p.E213K	NM_015450	NP_001036059	Q9NUX5	POTE1_HUMAN	Homo sapiens protection of telomeres 1 homolog (S. pombe) (POT1), transcript variant 1, mRNA.	344					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.L343F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GGTGTCCTCTCCAAATACTGA	0.348													T	124482994	C	T	124482994	3	4	4	1	0	0	0	0	1	0	0	0	12260	864	30	4	902	4	POT1	7	124482994	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	889172	124482994	34655669	1981	4046											
GRM8	2918	broad.mit.edu	37	chr7	126173421	126173421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcaaatattcggtggataCggtttgttttggtcagaagg	13	5	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:126173421C>T	uc003vlr.2	-	7	2326	c.2015G>A	c.(2014-2016)cGt>cAt	p.R672H	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.R672H|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	672					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.N671Y(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCGGTGGATACGGTTTGTTTT	0.493										HNSCC(24;0.065)			T	126173421	C	T	126173421	3	4	4	1	0	0	0	0	1	0	0	0	6803	536	19	1	773	1	GRM8	7	126173421	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1690427	126173421	32965242	1982	4047											
GRM8	2918	broad.mit.edu	37	chr7	126883250	126883250	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctgatcgctttccctcGcataccattttctccacagg	8	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:126883250G>A	uc003vlr.2	-	0	320	c.9C>T	c.(7-9)tgC>tgT	p.C3C	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.C3C|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	3					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCTTTCCCTCGCATACCATTT	0.498										HNSCC(24;0.065)	OREG0003802	type=REGULATORY REGION|Gene=GRM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	126883250	G	A	126883250	2	1	4	1	0	0	0	0	0	0	0	1	6803	1079	38	1		1	GRM8	7	126883250	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	709829	126883250	32255413	1983	4048											
GCC1	79571	broad.mit.edu	37	chr7	127222255	127222255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagattggctccctccctgCtctggtccctgatgttcttt	8	15	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:127222255C>T	uc003vma.3	-	1	2559	c.2141G>A	c.(2140-2142)aGc>aAc	p.S714N		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	714	GRIP.					Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCCCTCCCTGCTCTGGTCCCT	0.582													T	127222255	C	T	127222255	3	4	4	1	0	0	0	0	1	0	0	0	6285	797	28	2	190	2	GCC1	7	127222255	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	339005	127222255	31916408	1984	4049											
FSCN3	29999	broad.mit.edu	37	chr7	127240362	127240362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacttactcactgtactggCccccaatggcttctacatgc	6	15	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:127240362C>T	uc003vmd.2	+	5	1625	c.1406C>T	c.(1405-1407)gCc>gTc	p.A469V	FSCN3_uc011koh.1_Silent_p.G333G|FSCN3_uc010llc.2_Silent_p.G467G	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	469						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ACTGTACTGGCCCCCAATGGC	0.507													T	127240362	C	T	127240362	3	4	4	1	0	0	0	0	1	0	0	0	6069	739	26	2	1428	2	FSCN3	7	127240362	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	18107	127240362	31898301	1985	4050											
LRRC4	64101	broad.mit.edu	37	chr7	127669682	127669682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccacctccacgaggtagcGgcctcgcatgtgcatgggag	14	13	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:127669682G>A	uc003vmk.3	-	1	1149	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Missense_Mutation_p.R338C	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA.	338	LRRCT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		ACGAGGTAGCGGCCTCGCATG	0.577													A	127669682	G	A	127669682	3	1	4	1	0	0	0	0	1	0	0	0	8997	1116	39	1	953	1	LRRC4	7	127669682	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	429320	127669682	31468981	1986	4051											
LRRC4	64101	broad.mit.edu	37	chr7	127670230	127670230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctttcgatggggttgttgCgaagccagagctcccgcagc	14	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:127670230C>T	uc003vmk.3	-	1	601	c.464G>A	c.(463-465)cGc>cAc	p.R155H	SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Missense_Mutation_p.R155H	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA.	155						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGGGTTGTTGCGAAGCCAGAG	0.587													T	127670230	C	T	127670230	3	4	4	1	0	0	0	0	1	0	0	0	8997	768	27	1	1501	1	LRRC4	7	127670230	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	548	127670230	31468433	1987	4052											
RBM28	55131	broad.mit.edu	37	chr7	127964664	127964664	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagtcggcttcttcaccttCgtcgtctgaagctttgcagc	9	14	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:127964664C>T	uc003vmp.2	-	11	1402	c.1287G>A	c.(1285-1287)acG>acA	p.T429T	RBM28_uc011koj.1_Silent_p.T288T|RBM28_uc011kok.1_Silent_p.T376T	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	429					RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCTTCACCTTCGTCGTCTGAA	0.562													T	127964664	C	T	127964664	2	4	4	1	0	0	0	0	0	0	0	1	13128	871	31	1		1	RBM28	7	127964664	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	294434	127964664	31173999	1988	4053											
FLNC	2318	broad.mit.edu	37	chr7	128482937	128482937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatcatcaagaatgacaacGacaccttcaccgtcaagtac	5	13	4	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:128482937G>A	uc003vnz.4	+	15	2688	c.2479G>A	c.(2479-2481)Gac>Aac	p.D827N	FLNC_uc003voa.4_Missense_Mutation_p.D827N	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	827					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAATGACAACGACACCTTCAC	0.587													A	128482937	G	A	128482937	3	1	4	1	0	0	0	0	1	0	0	0	5935	1058	37	1	2541	1	FLNC	7	128482937	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	518273	128482937	30655726	1989	4054											
FAM40B	57464	broad.mit.edu	37	chr7	129122851	129122851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccatttaccagaaagtgCgtcaccgcatgaacgatgac	9	12	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:129122851C>T	uc011koy.2	+	19	2258	c.2218C>T	c.(2218-2220)Cgt>Tgt	p.R740C	FAM40B_uc003vow.3_Missense_Mutation_p.R740C|FAM40B_uc011koz.2_Missense_Mutation_p.R232C	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	740								p.R740C(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCAGAAAGTGCGTCACCGCAT	0.448													T	129122851	C	T	129122851	3	4	4	1	0	0	0	0	1	0	0	0	5561	768	27	1	2296	1	FAM40B	7	129122851	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	639914	129122851	30015812	1990	4055											
TMEM209	84928	broad.mit.edu	37	chr7	129813546	129813546	+	Frame_Shift_Del	DEL	A	A	-													gatagcactctgataaatgcAaaaaacattctcatttgtaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:129813545_129813545CA>C	uc003vpn.2	-	12	1607	c.1484_1484TG>G	c.(1483-1485)tgcfs	p.C495fs	TMEM209_uc010lmc.1_Frame_Shift_Del_p.C453fs	NM_032842	NP_116231	Q96SK2	TM209_HUMAN	Homo sapiens transmembrane protein 209 (TMEM209), mRNA.	495						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					CTGATAAATGCAAAAAACATT	0.373													-	129813546	A	-	129813546	7	5	4	1	0	1	0	1	0	0	0	0	16131	130	5	0	214	0	TMEM209	7	129813546	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	690695	129813546	29325117	1991	4056											
CPA1	1357	broad.mit.edu	37	chr7	130027747	130027747	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgagctccgggacactggGcgctatggcttcctgctgcc	13	14	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:130027747G>A	uc003vpx.3	+	9	1227	c.1155G>A	c.(1153-1155)ggG>ggA	p.G385G		NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	385					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GGGACACTGGGCGCTATGGCT	0.577													A	130027747	G	A	130027747	2	1	4	1	0	0	0	0	0	0	0	1	3789	1190	42	2		2	CPA1	7	130027747	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	214201	130027747	29110916	1992	4057											
MEST	4232	broad.mit.edu	37	chr7	130138010	130138010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actattccatatttgagcagGccagcatcgtggaagcgctt	10	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:130138010G>A	uc003vqg.3	+	4	626	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	MEST_uc003vqc.3_Missense_Mutation_p.A115T|MEST_uc003vqd.3_Missense_Mutation_p.A115T|MEST_uc022alp.1_Missense_Mutation_p.A115T|MEST_uc003vqf.3_Missense_Mutation_p.A115T|MEST_uc011kph.2_Missense_Mutation_p.A110T	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	Homo sapiens mesoderm specific transcript homolog (mouse) (MEST), transcript variant 1, mRNA.	124					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding	p.Q123*(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					ATTTGAGCAGGCCAGCATCGT	0.512													A	130138010	G	A	130138010	3	1	4	1	0	0	0	0	1	0	0	0	9484	1203	42	2	388	2	MEST	7	130138010	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	110263	130138010	29000653	1993	4058											
PLXNA4	91584	broad.mit.edu	37	chr7	131829950	131829950	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgctcatccaggaagTcaaacatgtacttgatggcc	9	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:131829950T>A	uc003vra.4	-	28	5382	c.5153A>T	c.(5152-5154)gAc>gTc	p.D1718V	PLXNA4_uc003vqz.4_Missense_Mutation_p.D3V	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1718						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ATCCAGGAAGTCAAACATGTA	0.557													A	131829950	T	A	131829950	3	1	4	1	0	0	0	0	1	0	0	0	12122	1667	58	5	547	5	PLXNA4	7	131829950	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1691940	131829950	27308713	1994	4059											
PLXNA4	91584	broad.mit.edu	37	chr7	132174113	132174113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggttcttgtagacatatgCgatgacagacgtcatgcggt	13	7	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:132174113C>T	uc003vra.4	-	2	1538	c.1309G>A	c.(1309-1311)Gca>Aca	p.A437T	PLXNA4_uc003vrc.2_Missense_Mutation_p.A437T|PLXNA4_uc003vrb.3_Missense_Mutation_p.A437T	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	437	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TAGACATATGCGATGACAGAC	0.527													T	132174113	C	T	132174113	3	4	4	1	0	0	0	0	1	0	0	0	12122	768	27	1	4809	1	PLXNA4	7	132174113	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	344163	132174113	26964550	1995	4060											
PLXNA4	91584	broad.mit.edu	37	chr7	132192896	132192896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcccatccactgccgtgGcaatgaacagcttgtcatcc	8	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:132192896G>A	uc003vra.4	-	1	786	c.557C>T	c.(556-558)gCc>gTc	p.A186V	PLXNA4_uc003vrc.2_Missense_Mutation_p.A186V|PLXNA4_uc003vrb.3_Missense_Mutation_p.A186V	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	186	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACTGCCGTGGCAATGAACAG	0.522													A	132192896	G	A	132192896	3	1	4	1	0	0	0	0	1	0	0	0	12122	1203	42	2	5565	2	PLXNA4	7	132192896	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	18783	132192896	26945767	1996	4061											
CALD1	800	broad.mit.edu	37	chr7	134632408	134632408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacagaagcagcaggaggCggctttggagctggaggaac	16	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:134632408C>T	uc003vrz.3	+	7	2148	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V	CALD1_uc003vry.3_Missense_Mutation_p.A306V|CALD1_uc003vsb.3_Missense_Mutation_p.A306V|CALD1_uc011kpt.2_Missense_Mutation_p.A80V|CALD1_uc010lmm.3_Missense_Mutation_p.A332V|CALD1_uc003vsc.3_Missense_Mutation_p.A326V|CALD1_uc003vsd.3_Missense_Mutation_p.A300V|CALD1_uc011kpu.2_Missense_Mutation_p.A311V|CALD1_uc011kpv.2_Missense_Mutation_p.A170V|CALD1_uc003vse.3_Missense_Mutation_p.A425V	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	561					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						cagcaggaggcggctttggag	0.582													T	134632408	C	T	134632408	3	4	4	1	0	0	0	0	1	0	0	0	2581	768	27	1	1761	1	CALD1	7	134632408	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2439512	134632408	24506255	1997	4062											
NUP205	23165	broad.mit.edu	37	chr7	135303205	135303205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtaggaagaaataaattgCtgcagtgtcttcatgcaaaa	10	5	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:135303205C>T	uc003vsw.3	+	27	3848	c.3817C>T	c.(3817-3819)Ctg>Ttg	p.L1273L		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1273					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AAATAAATTGCTGCAGTGTCT	0.428													T	135303205	C	T	135303205	2	4	4	1	0	0	0	0	0	0	0	1	10759	796	28	2		2	NUP205	7	135303205	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	670797	135303205	23835458	1998	4063											
NUP205	23165	broad.mit.edu	37	chr7	135304191	135304191	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactggatgatgaagctgcGcaagagttaatgcctgtggt	13	6	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:135304191G>A	uc003vsw.3	+	28	4015	c.3984G>A	c.(3982-3984)gcG>gcA	p.A1328A		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1328					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATGAAGCTGCGCAAGAGTTAA	0.443													A	135304191	G	A	135304191	2	1	4	1	0	0	0	0	0	0	0	1	10759	1074	38	1		1	NUP205	7	135304191	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	986	135304191	23834472	1999	4064											
SLC13A4	26266	broad.mit.edu	37	chr7	135390380	135390380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagttccagagaaggttggCtgttctttacatccagacct	10	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:135390380C>T	uc003vtb.3	-	4	1246	c.557G>A	c.(556-558)aGc>aAc	p.S186N	SLC13A4_uc003vta.3_Missense_Mutation_p.S186N	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	186						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						AGAAGGTTGGCTGTTCTTTAC	0.507													T	135390380	C	T	135390380	3	4	4	1	0	0	0	0	1	0	0	0	14394	797	28	2	1371	2	SLC13A4	7	135390380	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	86189	135390380	23748283	2000	4065											
PTN	5764	broad.mit.edu	37	chr7	136936003	136936003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgggcttggtcagtttgCcacagggcttggagatggtg	17	6	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:136936003C>T	uc003vtq.2	-	3	788	c.425G>A	c.(424-426)gGc>gAc	p.G142D		NM_002825	NP_002816	P21246	PTN_HUMAN	Homo sapiens pleiotrophin (PTN), mRNA.	142					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						GGTCAGTTTGCCACAGGGCTT	0.483													T	136936003	C	T	136936003	3	4	4	1	0	0	0	0	1	0	0	0	12768	739	26	2	89	2	PTN	7	136936003	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1545623	136936003	22202660	2001	4066											
DGKI	9162	broad.mit.edu	37	chr7	137148245	137148245	+	Frame_Shift_Del	DEL	G	G	-													gaactcttactgtagcacgcGggagtggctgagatctttca							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:137148244_137148244CG>C	uc003vtt.3	-	27	2751	c.2750_2750CG>G	c.(2749-2751)cgcfs	p.R917fs	DGKI_uc003vtu.3_Intron	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	917					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.R917H(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTGTAGCACGCGGGAGTGGCT	0.532													-	137148245	G	-	137148245	7	5	4	1	0	1	0	1	0	0	0	0	4471	1116	39	0	476	0	DGKI	7	137148245	Frame_Shift_Del	DEL	G	TCGA-BR-4184-01A-01D-1126-08	212242	137148245	21990418	2002	4067											
TMEM213	155006	broad.mit.edu	37	chr7	138487646	138487646	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcccttccccaccagaCgtggacttctgcccacaagc	8	18	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:138487646C>T	uc010lna.3	+	3	266	c.155_splice	c.e3-1	p.N52_splice	TMEM213_uc010lnb.3_Splice_Site_p.N51_splice	NM_001085429	NP_001078898	A2RRL7	TM213_HUMAN	Homo sapiens transmembrane protein 213 (TMEM213), mRNA.	52						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(1)	6						CCCCACCAGACGTGGACTTCT	0.602													T	138487646	C	T	138487646	5	4	4	1	0	0	0	0	0	0	1	0	16133	550	19	1	166	1	TMEM213	7	138487646	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1339401	138487646	20651017	2003	4068											
KIAA1549	57670	broad.mit.edu	37	chr7	138579249	138579249	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgctctgggattccggagAcggcctcttcaccctgtcga	12	13	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:138579249A>G	uc011kql.2	-	9	3920	c.3871T>C	c.(3871-3873)Tct>Cct	p.S1291P	KIAA1549_uc011kqi.2_Missense_Mutation_p.S75P|KIAA1549_uc011kqk.2_Missense_Mutation_p.S75P|KIAA1549_uc011kqj.2_Missense_Mutation_p.S1291P	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1291						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GATTCCGGAGACGGCCTCTTC	0.483			O	BRAF	pilocytic astrocytoma								G	138579249	A	G	138579249	3	3	4	1	0	0	0	0	1	0	0	0	8244	275	10	3	2025	3	KIAA1549	7	138579249	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	91603	138579249	20559414	2004	4069											
KIAA1549	57670	broad.mit.edu	37	chr7	138593813	138593813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattaggcctttctcaatgCgctgggtgaagttgcagaag	12	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:138593813C>T	uc011kql.2	-	4	3249	c.3200G>A	c.(3199-3201)cGc>cAc	p.R1067H	KIAA1549_uc011kqj.2_Missense_Mutation_p.R1067H	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1067						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TTTCTCAATGCGCTGGGTGAA	0.458			O	BRAF	pilocytic astrocytoma								T	138593813	C	T	138593813	3	4	4	1	0	0	0	0	1	0	0	0	8244	768	27	1	2716	1	KIAA1549	7	138593813	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	14564	138593813	20544850	2005	4070											
KIAA1549	57670	broad.mit.edu	37	chr7	138604036	138604036	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaagtagtggcagacggCggggctgtgacatggagagg	18	6	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:138604036C>T	uc011kql.2	-	1	385	c.336G>A	c.(334-336)ccG>ccA	p.P112P	KIAA1549_uc011kqj.2_Silent_p.P112P	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	112						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGGCAGACGGCGGGGCTGTGA	0.517			O	BRAF	pilocytic astrocytoma								T	138604036	C	T	138604036	2	4	4	1	0	0	0	0	0	0	0	1	8244	755	27	1		1	KIAA1549	7	138604036	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	10223	138604036	20534627	2006	4071											
UBN2	254048	broad.mit.edu	37	chr7	138978728	138978728	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacagcaagcatttcacgGtgagaacgccacctccttca	7	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:138978728G>A	uc011kqr.2	+	17	3994	c.3994_splice	c.e17+1	p.D1332_splice		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	1332										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GCATTTCACGGTGAGAACGCC	0.433													A	138978728	G	A	138978728	5	1	4	1	0	0	0	0	0	0	1	0	16890	1275	44	4	4061	4	UBN2	7	138978728	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	374692	138978728	20159935	2007	4072											
BRAF	673	broad.mit.edu	37	chr7	140434413	140434413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttcagtggacaggaaacGcaccatatccccctgcctgg	10	13	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:140434413G>A	uc003vwc.4	-	17	2346	c.2285C>T	c.(2284-2286)gCg>gTg	p.A762V		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	762					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.A762E(2)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GACAGGAAACGCACCATATCC	0.403		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				A	140434413	G	A	140434413	3	1	4	1	0	0	0	0	1	0	0	0	1496	1087	38	1	19	1	BRAF	7	140434413	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1455685	140434413	18704250	2008	4073											
TAS2R3	50831	broad.mit.edu	37	chr7	141464395	141464395	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttatcctgtggtagtaccgCatctctgatcaatgagttta	8	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:141464395C>A	uc003vwp.1	+	0	499	c.437C>A	c.(436-438)gCa>gAa	p.A146E		NM_016943	NP_058639	Q9NYW6	TA2R3_HUMAN	Homo sapiens taste receptor, type 2, member 3 (TAS2R3), mRNA.	146					sensory perception of taste		taste receptor activity	p.T145T(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					GGTAGTACCGCATCTCTGATC	0.458													A	141464395	C	A	141464395	3	1	4	1	0	0	0	0	1	0	0	0	15569	710	25	5	439	5	TAS2R3	7	141464395	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1029982	141464395	17674268	2009	4074											
MGAM	8972	broad.mit.edu	37	chr7	141796213	141796213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcagccctgtcctggagCgtgtgagtatggaggcctcc	15	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:141796213C>T	uc003vwy.3	+	41	5056	c.5002C>T	c.(5002-5004)Cgt>Tgt	p.R1668C		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1668	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTCCTGGAGCGTGTGAGTAT	0.582													T	141796213	C	T	141796213	3	4	4	1	0	0	0	0	1	0	0	0	9541	768	27	1	5164	1	MGAM	7	141796213	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	331818	141796213	17342450	2010	4075											
MGAM	8972	broad.mit.edu	37	chr7	141797431	141797431	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatatttccctagagcccgCtggtatgattactacacggt	9	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:141797431C>T	uc003vwy.3	+	42	5097	c.5043C>T	c.(5041-5043)cgC>cgT	p.R1681R		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1681	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTAGAGCCCGCTGGTATGATT	0.398													T	141797431	C	T	141797431	2	4	4	1	0	0	0	0	0	0	0	1	9541	784	28	2		2	MGAM	7	141797431	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1218	141797431	17341232	2011	4076											
TRPV5	56302	broad.mit.edu	37	chr7	142609695	142609695	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccaccctccagtgggTgtcgcccatcatggcgatga	13	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:142609695T>G	uc003wby.1	-	12	2005	c.1741A>C	c.(1741-1743)Acc>Ccc	p.T581P		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	581					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTCCAGTGGGTGTCGCCCATC	0.532													G	142609695	T	G	142609695	3	3	4	1	0	0	0	0	1	0	0	0	16596	1696	59	5	460	5	TRPV5	7	142609695	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	812264	142609695	16528968	2012	4077											
ZYX	7791	broad.mit.edu	37	chr7	143087068	143087068	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acatgaagtgttacaagtgtGaggtcagccatccctctgga	11	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:143087068G>A	uc003wcx.3	+	8	1770	c.1612G>A	c.(1612-1614)Gag>Aag	p.E538K	ZYX_uc011ktd.2_Missense_Mutation_p.E381K|ZYX_uc003wcw.3_Missense_Mutation_p.E538K|ZYX_uc011kte.2_Missense_Mutation_p.E507K|ZYX_uc011ktf.2_Missense_Mutation_p.E381K	NM_003461	NP_003452	Q15942	ZYX_HUMAN	Homo sapiens zyxin (ZYX), transcript variant 1, mRNA.	538	LIM zinc-binding 3.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					TTACAAGTGTGAGGTCAGCCA	0.572													A	143087068	G	A	143087068	3	1	4	1	0	0	0	0	1	0	0	0	18251	1291	45	4	1642	4	ZYX	7	143087068	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	477373	143087068	16051595	2013	4078											
FAM115A	9747	broad.mit.edu	37	chr7	143573264	143573264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctcctatgagcaagccGccaccacatttcatgaactt	6	14	1	2	rs150457102	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:143573264G>A	uc003wdo.2	-	1	571	c.438C>T	c.(436-438)ggC>ggT	p.G146G	FAM115A_uc011ktu.2_Intron|FAM115A_uc003wdp.2_Silent_p.G146G	NM_014719	NP_001193870	Q9Y4C2	F115A_HUMAN	Homo sapiens family with sequence similarity 115, member A (FAM115A), transcript variant 1, mRNA.	146										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					TGAGCAAGCCGCCACCACATT	0.522													A	143573264	G	A	143573264	2	1	4	1	0	0	0	0	0	0	0	1	5405	1074	38	1		1	FAM115A	7	143573264	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	486196	143573264	15565399	2014	4079											
OR2F2	135948	broad.mit.edu	37	chr7	143632824	143632824	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctatcacctttcagctgCccatgtgcactaacaagttt	6	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:143632824C>A	uc011ktv.2	+	0	499	c.499C>A	c.(499-501)Ccc>Acc	p.P167T		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P167H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CTTTCAGCTGCCCATGTGCAC	0.522													A	143632824	C	A	143632824	3	1	4	1	0	0	0	0	1	0	0	0	10997	739	26	5	501	5	OR2F2	7	143632824	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	59560	143632824	15505839	2015	4080											
OR2F1	26211	broad.mit.edu	37	chr7	143657808	143657808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcacctcacagtggttGccctgtgctatggtgtggcc	11	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:143657808G>A	uc003wds.1	+	0	789	c.745G>A	c.(745-747)Gcc>Acc	p.A249T		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CACAGTGGTTGCCCTGTGCTA	0.478													A	143657808	G	A	143657808	3	1	4	1	0	0	0	0	1	0	0	0	10996	1319	46	2	747	2	OR2F1	7	143657808	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	24984	143657808	15480855	2016	4081											
CNTNAP2	26047	broad.mit.edu	37	chr7	147336252	147336252	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagatgcagacgcctgtggTcggctacaacccagaaaaat	11	11	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:147336252T>C	uc003weu.2	+	12	2468	c.1952T>C	c.(1951-1953)gTc>gCc	p.V651A		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	651	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.V651V(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACGCCTGTGGTCGGCTACAAC	0.507										HNSCC(39;0.1)			C	147336252	T	C	147336252	3	2	4	1	0	0	0	0	1	0	0	0	3647	1667	58	3	2002	3	CNTNAP2	7	147336252	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	3678444	147336252	11802411	2017	4082											
CUL1	8454	broad.mit.edu	37	chr7	148456729	148456729	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggagttgtacagtcttaCggtaaataatttccctttag	9	6	1	0	rs144866150	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:148456729C>T	uc010lpg.3	+	6	1151	c.625_splice	c.e6+1	p.V209_splice	CUL1_uc003wey.3_Splice_Site_p.V209_splice|CUL1_uc003wez.3_Splice_Site_p.V99_splice	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	209					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination	SCF ubiquitin ligase complex|cytosol|nucleoplasm	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TACAGTCTTACGGTAAATAAT	0.289													T	148456729	C	T	148456729	5	4	4	1	0	0	0	0	0	0	1	0	4054	550	19	1	642	1	CUL1	7	148456729	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1120477	148456729	10681934	2018	4083											
CUL1	8454	broad.mit.edu	37	chr7	148485686	148485686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacacctctaaacttcagcGcatgtttcaagacattggcg	8	11	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:148485686G>A	uc010lpg.3	+	13	2043	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H	CUL1_uc003wey.3_Missense_Mutation_p.R506H|CUL1_uc003wez.3_Missense_Mutation_p.R396H|CUL1_uc003wfa.3_Missense_Mutation_p.R167H	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	506					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination	SCF ubiquitin ligase complex|cytosol|nucleoplasm	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AAACTTCAGCGCATGTTTCAA	0.418													A	148485686	G	A	148485686	3	1	4	1	0	0	0	0	1	0	0	0	4054	1087	38	1	1567	1	CUL1	7	148485686	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	28957	148485686	10652977	2019	4084											
CUL1	8454	broad.mit.edu	37	chr7	148496426	148496426	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacaccagcagttacttggCgaggtcctcactcagctgtc	9	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:148496426C>T	uc010lpg.3	+	20	2722	c.2196C>T	c.(2194-2196)ggC>ggT	p.G732G	CUL1_uc003wey.3_Silent_p.G732G|CUL1_uc003wez.3_Silent_p.G622G|CUL1_uc003wfa.3_Silent_p.G393G	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	732					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination	SCF ubiquitin ligase complex|cytosol|nucleoplasm	ubiquitin protein ligase binding	p.G732G(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AGTTACTTGGCGAGGTCCTCA	0.453													T	148496426	C	T	148496426	2	4	4	1	0	0	0	0	0	0	0	1	4054	755	27	1		1	CUL1	7	148496426	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	10740	148496426	10642237	2020	4085											
EZH2	2146	broad.mit.edu	37	chr7	148544339	148544339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtactctgattttacacGcttccgccaacaaactggtc	6	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:148544339G>A	uc003wfd.2	-	1	245	c.52C>T	c.(52-54)Cgt>Tgt	p.R18C	EZH2_uc022aov.1_Missense_Mutation_p.R18C|EZH2_uc011kug.2_Missense_Mutation_p.R18C|EZH2_uc003wfb.2_Missense_Mutation_p.R18C|EZH2_uc003wfc.2_Missense_Mutation_p.R18C|EZH2_uc011kuh.2_Missense_Mutation_p.R18C|EZH2_uc011kui.2_Missense_Mutation_p.R18C|EZH2_uc011kuj.2_Non-coding_Transcript	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	18	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GATTTTACACGCTTCCGCCAA	0.378			Mis		DLBCL								A	148544339	G	A	148544339	3	1	4	1	0	0	0	0	1	0	0	0	5334	1087	38	1	2279	1	EZH2	7	148544339	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	47913	148544339	10594324	2021	4086											
C7orf29	113763	broad.mit.edu	37	chr7	150027622	150027622	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagtgtcggggagaggggCgcagccatccagctggctga	18	10	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:150027622C>T	uc003wgy.3	+	0	685	c.129C>T	c.(127-129)ggC>ggT	p.G43G	LRRC61_uc003wgv.3_Intron|LRRC61_uc003wgx.3_Intron|LRRC61_uc003wgw.3_Intron	NM_138434	NP_612443	Q96FA7	CG029_HUMAN	Homo sapiens chromosome 7 open reading frame 29 (C7orf29), mRNA.	43										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9			OV - Ovarian serous cystadenocarcinoma(82;0.011)			GGGAGAGGGGCGCAGCCATCC	0.627													T	150027622	C	T	150027622	2	4	4	1	0	0	0	0	0	0	0	1	2385	755	27	1		1	C7orf29	7	150027622	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1483283	150027622	9111041	2022	4087											
REPIN1	29803	broad.mit.edu	37	chr7	150069158	150069158	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggaagcgctttaccaataaGccctatctgacttcgcaccg	9	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:150069158G>T	uc010lpr.1	+	2	1192	c.999G>T	c.(997-999)aaG>aaT	p.K333N	REPIN1_uc003whd.2_Missense_Mutation_p.K265N|REPIN1_uc010lpq.1_Missense_Mutation_p.K276N|REPIN1_uc003whc.2_Missense_Mutation_p.K276N|REPIN1_uc003whe.2_Missense_Mutation_p.K276N	NM_001099695	NP_055189	Q9BWE0	REPI1_HUMAN	Homo sapiens replication initiator 1 (REPIN1), transcript variant 4, mRNA.	276	Pro-rich.				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			TTACCAATAAGCCCTATCTGA	0.657													T	150069158	G	T	150069158	3	4	4	1	0	0	0	0	1	0	0	0	13227	962	34	5	1005	5	REPIN1	7	150069158	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	41536	150069158	9069505	2023	4088											
AGAP3	116988	broad.mit.edu	37	chr7	150815376	150815376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagatctgaagcggtgcacCtactatgagacgtgcgcgac	12	11	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:150815376C>T	uc003wjg.1	+	5	789	c.786C>T	c.(784-786)acC>acT	p.T262T	AGAP3_uc003wje.1_Silent_p.T34T|AGAP3_uc003wjf.1_Silent_p.T262T|AGAP3_uc010lpy.1_Silent_p.T262T|AGAP3_uc003wjh.1_Silent_p.T442T	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	226	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						AGCGGTGCACCTACTATGAGA	0.642													T	150815376	C	T	150815376	2	4	4	1	0	0	0	0	0	0	0	1	369	668	24	4		4	AGAP3	7	150815376	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	746218	150815376	8323287	2024	4089											
ABCF2	10061	broad.mit.edu	37	chr7	150912693	150912693	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccctcctttactgacctgTtgtttcccagtgagaccgta	7	14	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:150912693T>A	uc003wjo.1	-	12	1638	c.1527A>T	c.(1525-1527)caA>caT	p.Q509H	ABCF2_uc003wjp.3_Missense_Mutation_p.Q509H	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	509	ABC transporter 2.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TACTGACCTGTTGTTTCCCAG	0.522													A	150912693	T	A	150912693	3	1	4	1	0	0	0	0	1	0	0	0	66	1722	60	5	397	5	ABCF2	7	150912693	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	97317	150912693	8225970	2025	4090											
CHPF2	54480	broad.mit.edu	37	chr7	150932242	150932242	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggctgtgaaccgtacggtGgcccatcacttccctcggtt	12	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:150932242G>A	uc003wjr.1	+	1	1885	c.372G>A	c.(370-372)gtG>gtA	p.V124V	CHPF2_uc003wjq.1_Silent_p.V116V	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	124						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						ACCGTACGGTGGCCCATCACT	0.647													A	150932242	G	A	150932242	2	1	4	1	0	0	0	0	0	0	0	1	3369	1335	47	4		4	CHPF2	7	150932242	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	19549	150932242	8206421	2026	4091											
MLL3	58508	broad.mit.edu	37	chr7	151836322	151836322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacatggtcgttatccatgCggaacatgtacacaccacgg	9	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:151836322C>T	uc003wla.3	-	56	14702	c.14483G>A	c.(14482-14484)cGc>cAc	p.R4828H	MLL3_uc003wkz.3_Missense_Mutation_p.R3942H|MLL3_uc003wkx.3_Missense_Mutation_p.R986H|MLL3_uc003wky.3_Missense_Mutation_p.R2388H	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4828	SET.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTTATCCATGCGGAACATGTA	0.552			N		medulloblastoma								T	151836322	C	T	151836322	3	4	4	1	0	0	0	0	1	0	0	0	9622	768	27	1	264	1	MLL3	7	151836322	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	904080	151836322	7302341	2027	4092											
MLL3	58508	broad.mit.edu	37	chr7	151845524	151845524	+	Frame_Shift_Del	DEL	A	A	-													caaagcatagttttgtccttAaaaaacatgcattgtgcttt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:151845523_151845523TA>T	uc003wla.3	-	51	13708	c.13489_13489TA>A	c.(13489-13491)aagfs	p.K4497fs	MLL3_uc003wkz.3_Frame_Shift_Del_p.K3615fs|MLL3_uc003wkx.3_Frame_Shift_Del_p.K655fs|MLL3_uc003wky.3_Frame_Shift_Del_p.K2061fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4497					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.M4551fs*17(1)|p.M4494fs*17(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTTTTGTCCTTAAAAAACATG	0.433			N		medulloblastoma								-	151845524	A	-	151845524	7	5	4	1	0	1	0	1	0	0	0	0	9622	359	13	0	1279	0	MLL3	7	151845524	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	9202	151845524	7293139	2028	4093											
MLL3	58508	broad.mit.edu	37	chr7	151845551	151845551	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcattgtgctttaatggcGcaagtgaagtgataaatgtt	11	4	0	2	rs138230031		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:151845551G>A	uc003wla.3	-	51	13680	c.13461C>T	c.(13459-13461)tgC>tgT	p.C4487C	MLL3_uc003wkz.3_Silent_p.C3605C|MLL3_uc003wkx.3_Silent_p.C645C|MLL3_uc003wky.3_Silent_p.C2051C	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4487					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CTTTAATGGCGCAAGTGAAGT	0.423			N		medulloblastoma								A	151845551	G	A	151845551	2	1	4	1	0	0	0	0	0	0	0	1	9622	1079	38	1		1	MLL3	7	151845551	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	27	151845551	7293112	2029	4094											
MLL3	58508	broad.mit.edu	37	chr7	151873336	151873336	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgcatctgtctttgctGctgctgttcttgcctttctt	9	11	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:151873336G>A	uc003wla.3	-	37	9421	c.9202C>T	c.(9202-9204)Cag>Tag	p.Q3068*	MLL3_uc003wkz.3_Nonsense_Mutation_p.Q2129*|MLL3_uc003wky.3_Nonsense_Mutation_p.Q577*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3068	Gln-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGTCTTTGCTGCTGCTGTTCT	0.433			N		medulloblastoma								A	151873336	G	A	151873336	4	1	4	1	0	0	0	0	0	1	0	0	9622	1328	46	2	5621	2	MLL3	7	151873336	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	27785	151873336	7265327	2030	4095											
MLL3	58508	broad.mit.edu	37	chr7	151878430	151878430	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggctgctgactatatgggTcaacagtagtaggccgggga	17	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:151878430T>C	uc003wla.3	-	35	6734	c.6515A>G	c.(6514-6516)gAc>gGc	p.D2172G	MLL3_uc003wkz.3_Missense_Mutation_p.D1233G	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2172	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACTATATGGGTCAACAGTAGT	0.463			N		medulloblastoma								C	151878430	T	C	151878430	3	2	4	1	0	0	0	0	1	0	0	0	9622	1667	58	3	8316	3	MLL3	7	151878430	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	5094	151878430	7260233	2031	4096											
MLL3	58508	broad.mit.edu	37	chr7	151878749	151878749	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataagggtcaacagacaatcGccttgatgcctgtgacactg	10	10	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:151878749G>A	uc003wla.3	-	35	6415	c.6196C>T	c.(6196-6198)Cga>Tga	p.R2066*	MLL3_uc003wkz.3_Nonsense_Mutation_p.R1127*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2066	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACAGACAATCGCCTTGATGCC	0.453			N		medulloblastoma								A	151878749	G	A	151878749	4	1	4	1	0	0	0	0	0	1	0	0	9622	1095	38	1	8635	1	MLL3	7	151878749	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	319	151878749	7259914	2032	4097											
MLL3	58508	broad.mit.edu	37	chr7	151962157	151962157	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactttgcactcaggacattGccaacctgcacgttttaatg	7	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:151962157G>A	uc003wla.3	-	7	1369	c.1150C>T	c.(1150-1152)Caa>Taa	p.Q384*		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	384					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.Q384E(3)|p.W383L(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TCAGGACATTGCCAACCTGCA	0.428			N		medulloblastoma								A	151962157	G	A	151962157	4	1	4	1	0	0	0	0	0	1	0	0	9622	1328	46	2	13793	2	MLL3	7	151962157	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	83408	151962157	7176506	2033	4098											
DPP6	1804	broad.mit.edu	37	chr7	154561150	154561150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattttgaagacacacatcGcacactggtggtctccggat	10	10	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:154561150G>A	uc003wlk.3	+	8	1036	c.907G>A	c.(907-909)Gca>Aca	p.A303T	DPP6_uc003wli.3_Missense_Mutation_p.A239T|DPP6_uc003wlm.3_Missense_Mutation_p.A241T|DPP6_uc011kvq.2_Missense_Mutation_p.A196T	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	303					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GACACACATCGCACACTGGTG	0.507													A	154561150	G	A	154561150	3	1	4	1	0	0	0	0	1	0	0	0	4730	1087	38	1	1057	1	DPP6	7	154561150	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2598993	154561150	4577513	2034	4099											
INSIG1	3638	broad.mit.edu	37	chr7	155099961	155099962	+	Frame_Shift_Ins	INS	-	-	A													tacacatagggtgttcctgaINSaaagccccatagtgattgag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:155099960_155099961G>GA	uc003wly.3	+	5	1025_1026	c.814_815G>GA	c.(814-816)gaafs	p.E272fs	INSIG1_uc003wlz.3_3'UTR|INSIG1_uc011kvu.2_Frame_Shift_Ins_p.L143fs	NM_005542	NP_005533	O15503	INSI1_HUMAN	Homo sapiens insulin induced gene 1 (INSIG1), transcript variant 1, mRNA.	272					ER-nuclear sterol response pathway|cell proliferation	endoplasmic reticulum membrane|integral to membrane	protein binding	p.F272L(1)|p.P271S(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGTGTTCCTGAAAAGCCCCAT	0.332													A	155099962	-	A	155099961	7	5	4	1	0	1	1	0	0	0	0	0	7765	247	9	0	908	0	INSIG1	7	155099961	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	538811	155099961	4038702	2035	4100											
PTPRN2	5799	broad.mit.edu	37	chr7	157369425	157369425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttcttcagatagaagctcCtcaccaggaagtcctcacac	8	13	4	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:157369425C>T	uc003wno.3	-	18	2784	c.2663G>A	c.(2662-2664)aGg>aAg	p.R888K	PTPRN2_uc003wnp.3_Missense_Mutation_p.R871K|PTPRN2_uc003wnq.3_Missense_Mutation_p.R859K|PTPRN2_uc003wnr.3_Missense_Mutation_p.R850K|PTPRN2_uc011kwa.2_Missense_Mutation_p.R911K|MIR153-2_uc011kwb.1_5'Flank	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	888	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ATAGAAGCTCCTCACCAGGAA	0.582													T	157369425	C	T	157369425	3	4	4	1	0	0	0	0	1	0	0	0	12808	681	24	4	404	4	PTPRN2	7	157369425	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2269464	157369425	1769238	2036	4101											
FBXO25	26260	broad.mit.edu	37	chr8	401417	401417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgattagaaactattctcgcCtggcaacaacagctacagga	8	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:401417C>T	uc003wox.3	+	6	890	c.624C>T	c.(622-624)gcC>gcT	p.A208A	FBXO25_uc003woy.3_Silent_p.A208A|FBXO25_uc003woz.3_Silent_p.A141A|FBXO25_uc003wpa.3_5'UTR	NM_183421	NP_904357	Q8TCJ0	FBX25_HUMAN	Homo sapiens F-box protein 25 (FBXO25), transcript variant 1, mRNA.	208						SCF ubiquitin ligase complex|nucleus	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		CTATTCTCGCCTGGCAACAAC	0.368													T	401417	C	T	401417	2	4	4	1	0	0	0	0	0	0	0	1	5736	668	24	4		4	FBXO25	8	401417	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08		401417	145962605	2037	4102											
DLGAP2	9228	broad.mit.edu	37	chr8	1497706	1497706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttggcgctgacgcccgacGccaagtacctgaagcgcagc	14	14	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:1497706G>A	uc003wpl.3	+	1	944	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	DLGAP2_uc003wpm.3_Missense_Mutation_p.A283T	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	362					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GACGCCCGACGCCAAGTACCT	0.647													A	1497706	G	A	1497706	3	1	4	1	0	0	0	0	1	0	0	0	4560	1087	38	1	849	1	DLGAP2	8	1497706	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1096289	1497706	144866316	2038	4103											
DLGAP2	9228	broad.mit.edu	37	chr8	1649446	1649446	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccctggacctgcccgacagAcaacgccaggaagcccggag	12	16	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:1649446A>G	uc003wpl.3	+	11	2899	c.2802A>G	c.(2800-2802)agA>agG	p.R934R	DLGAP2_uc003wpm.3_Silent_p.R920R	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	1013					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGCCCGACAGACAACGCCAGG	0.592													G	1649446	A	G	1649446	2	3	4	1	0	0	0	0	0	0	0	1	4560	272	10	3		3	DLGAP2	8	1649446	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	151740	1649446	144714576	2039	4104											
ARHGEF10	9639	broad.mit.edu	37	chr8	1814720	1814720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtcggtcgagaggacagcGcacttgcccgctgggccgca	15	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:1814720G>A	uc003wpr.3	+	5	752	c.574G>A	c.(574-576)Gca>Aca	p.A192T	ARHGEF10_uc003wpq.1_Missense_Mutation_p.A217T|ARHGEF10_uc003wps.3_Missense_Mutation_p.A193T|ARHGEF10_uc003wpt.3_Missense_Mutation_p.A107T|ARHGEF10_uc010lrd.2_Missense_Mutation_p.A107T|ARHGEF10_uc003wpu.3_Missense_Mutation_p.A106T|ARHGEF10_uc022aqp.1_5'Flank	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	217					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AGAGGACAGCGCACTTGCCCG	0.562													A	1814720	G	A	1814720	3	1	4	1	0	0	0	0	1	0	0	0	894	1087	38	1	592	1	ARHGEF10	8	1814720	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	165274	1814720	144549302	2040	4105											
ARHGEF10	9639	broad.mit.edu	37	chr8	1817418	1817418	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactcagactctgaaccaggTttgattttgtctggaattga	9	7	3	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:1817418T>C	uc003wpr.3	+	7	857	c.679_splice	c.e7+2	p.D227_splice	ARHGEF10_uc003wpq.1_Splice_Site_p.D252_splice|ARHGEF10_uc003wps.3_Splice_Site_p.D228_splice|ARHGEF10_uc003wpt.3_Splice_Site_p.D142_splice|ARHGEF10_uc010lrd.2_Silent_p.G142G|ARHGEF10_uc003wpu.3_Silent_p.G141G|ARHGEF10_uc022aqp.1_5'Flank	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	252					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CTGAACCAGGTTTGATTTTGT	0.443													C	1817418	T	C	1817418	5	2	4	1	0	0	0	0	0	0	1	0	894	1739	60	3	703	3	ARHGEF10	8	1817418	Splice_Site	SNP	T	TCGA-BR-4184-01A-01D-1126-08	2698	1817418	144546604	2041	4106											
CSMD1	64478	broad.mit.edu	37	chr8	3205517	3205517	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaagattctttttaccttTagagtatctccttcaaacag	6	8	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:3205517T>C	uc022aqr.1	-	21	3861	c.3471A>G	c.(3469-3471)ctA>ctG	p.L1157L	CSMD1_uc011kwj.2_Silent_p.L550L|CSMD1_uc003wqe.3_Silent_p.L314L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1158	CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTTTTACCTTTAGAGTATCTC	0.338													C	3205517	T	C	3205517	2	2	4	1	0	0	0	0	0	0	0	1	3944	1741	61	3		3	CSMD1	8	3205517	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1388099	3205517	143158505	2042	4107											
ANGPT2	285	broad.mit.edu	37	chr8	6360702	6360702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtagtaccatttaatgcCgttgaacttatttgtgttct	7	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:6360702C>T	uc003wqj.4	-	8	1740	c.1411G>A	c.(1411-1413)Ggc>Agc	p.G471S	MCPH1_uc003wqi.3_Intron|ANGPT2_uc003wqk.4_Missense_Mutation_p.G470S|ANGPT2_uc010lri.3_Missense_Mutation_p.G419S	NM_001147	NP_001138	O15123	ANGP2_HUMAN	Homo sapiens angiopoietin 2 (ANGPT2), transcript variant 1, mRNA.	471	Fibrinogen C-terminal.				Tie receptor signaling pathway|angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		CATTTAATGCCGTTGAACTTA	0.463													T	6360702	C	T	6360702	3	4	4	1	0	0	0	0	1	0	0	0	611	652	23	1	83	1	ANGPT2	8	6360702	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3155185	6360702	140003320	2043	4108											
ANGPT2	285	broad.mit.edu	37	chr8	6371295	6371295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtattttaagcacatagCgttgctgattagtcagttgc	11	6	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:6371295C>T	uc003wqj.4	-	6	1432	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	MCPH1_uc003wqi.3_Intron|ANGPT2_uc003wqk.4_Missense_Mutation_p.R367H|ANGPT2_uc010lri.3_Missense_Mutation_p.R316H|ANGPT2_uc003wql.4_Missense_Mutation_p.R367H	NM_001147	NP_001138	O15123	ANGP2_HUMAN	Homo sapiens angiopoietin 2 (ANGPT2), transcript variant 1, mRNA.	368	Fibrinogen C-terminal.				Tie receptor signaling pathway|angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis	extracellular space	metal ion binding|receptor tyrosine kinase binding	p.R368C(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		AAGCACATAGCGTTGCTGATT	0.363													T	6371295	C	T	6371295	3	4	4	1	0	0	0	0	1	0	0	0	611	768	27	1	399	1	ANGPT2	8	6371295	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	10593	6371295	139992727	2044	4109											
ANGPT2	285	broad.mit.edu	37	chr8	6420295	6420295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtaggggctggaggaagagCggcagttgtccatctctggc	17	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:6420295C>T	uc003wqj.4	-	0	490	c.161G>A	c.(160-162)cGc>cAc	p.R54H	MCPH1_uc003wqi.3_Intron|ANGPT2_uc003wqk.4_Missense_Mutation_p.R54H|ANGPT2_uc010lri.3_Missense_Mutation_p.R54H|ANGPT2_uc003wql.4_Missense_Mutation_p.R54H	NM_001147	NP_001138	O15123	ANGP2_HUMAN	Homo sapiens angiopoietin 2 (ANGPT2), transcript variant 1, mRNA.	54					Tie receptor signaling pathway|angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GGAGGAAGAGCGGCAGTTGTC	0.552													T	6420295	C	T	6420295	3	4	4	1	0	0	0	0	1	0	0	0	611	768	27	1	1365	1	ANGPT2	8	6420295	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	49000	6420295	139943727	2045	4110											
ERI1	90459	broad.mit.edu	37	chr8	8869247	8869247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggttgttttactgaatacGcatactttagaaatagtaag	8	6	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:8869247G>A	uc003wsk.2	+	2	743	c.483G>A	c.(481-483)acG>acA	p.T161T		NM_153332	NP_699163	Q8IV48	ERI1_HUMAN	Homo sapiens exoribonuclease 1 (ERI1), mRNA.	161	Exonuclease.				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|rRNA binding|ribosome binding			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11					Adenosine monophosphate(DB00131)	TACTGAATACGCATACTTTAG	0.328													A	8869247	G	A	8869247	2	1	4	1	0	0	0	0	0	0	0	1	5227	1074	38	1		1	ERI1	8	8869247	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2448952	8869247	137494775	2046	4111											
TNKS	8658	broad.mit.edu	37	chr8	9567472	9567472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttactttatagcactgtgCtgtggcctctctgcatccca	8	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:9567472C>T	uc003wss.3	+	9	1591	c.1586C>T	c.(1585-1587)gCt>gTt	p.A529V	TNKS_uc011kwv.1_Missense_Mutation_p.A529V|TNKS_uc011kww.2_Missense_Mutation_p.A292V	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	529					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TAGCACTGTGCTGTGGCCTCT	0.333													T	9567472	C	T	9567472	3	4	4	1	0	0	0	0	1	0	0	0	16316	797	28	2	1624	2	TNKS	8	9567472	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	698225	9567472	136796550	2047	4112											
TNKS	8658	broad.mit.edu	37	chr8	9605598	9605598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgcaacagataagtgggCgtttactcccctccatgaag	9	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:9605598C>T	uc003wss.3	+	17	2713	c.2708C>T	c.(2707-2709)gCg>gTg	p.A903V	TNKS_uc011kww.2_Missense_Mutation_p.A666V|TNKS_uc010lrt.1_Non-coding_Transcript	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	903					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GATAAGTGGGCGTTTACTCCC	0.468													T	9605598	C	T	9605598	3	4	4	1	0	0	0	0	1	0	0	0	16316	768	27	1	2778	1	TNKS	8	9605598	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	38126	9605598	136758424	2048	4113											
TNKS	8658	broad.mit.edu	37	chr8	9605648	9605648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaaggacgcagctgtgcGccctcctcctagcgcatggt	13	13	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:9605648G>A	uc003wss.3	+	17	2763	c.2758G>A	c.(2758-2760)Gcc>Acc	p.A920T	TNKS_uc011kww.2_Missense_Mutation_p.A683T|TNKS_uc010lrt.1_Non-coding_Transcript	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	920					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	p.A920T(2)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GCAGCTGTGCGCCCTCCTCCT	0.507													A	9605648	G	A	9605648	3	1	4	1	0	0	0	0	1	0	0	0	16316	1087	38	1	2828	1	TNKS	8	9605648	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	50	9605648	136758374	2049	4114											
RP1L1	94137	broad.mit.edu	37	chr8	10464545	10464545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccttgagcccaaaggggCctcttcttgctcagaagtag	11	11	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:10464545C>T	uc003wtc.3	-	3	7292	c.7063G>A	c.(7063-7065)Gcc>Acc	p.A2355T		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2355					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCAAAGGGGCCTCTTCTTGC	0.587													T	10464545	C	T	10464545	3	4	4	1	0	0	0	0	1	0	0	0	13533	739	26	2	143	2	RP1L1	8	10464545	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	858897	10464545	135899477	2050	4115											
RP1L1	94137	broad.mit.edu	37	chr8	10480258	10480258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaatcagcagtatcctccGgggggttttaagactcttcc	9	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:10480258G>A	uc003wtc.3	-	1	683	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	152					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGTATCCTCCGGGGGGTTTTA	0.582													A	10480258	G	A	10480258	3	1	4	1	0	0	0	0	1	0	0	0	13533	1115	39	1	6760	1	RP1L1	8	10480258	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	15713	10480258	135883764	2051	4116											
RP1L1	94137	broad.mit.edu	37	chr8	10480525	10480525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagctcgtccatgagggCgctgaaggtcttaaaggcgc	16	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:10480525C>T	uc003wtc.3	-	1	416	c.187G>A	c.(187-189)Gcc>Acc	p.A63T		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	63					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCATGAGGGCGCTGAAGGTC	0.652													T	10480525	C	T	10480525	3	4	4	1	0	0	0	0	1	0	0	0	13533	768	27	1	7027	1	RP1L1	8	10480525	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	267	10480525	135883497	2052	4117											
XKR6	286046	broad.mit.edu	37	chr8	10755900	10755900	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcctgtgggatgcagcacGccatagtataagagcatcat	12	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:10755900G>A	uc003wtk.1	-	2	1515	c.1488C>T	c.(1486-1488)ggC>ggT	p.G496G		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	496						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GATGCAGCACGCCATAGTATA	0.562													A	10755900	G	A	10755900	2	1	4	1	0	0	0	0	0	0	0	1	17432	1074	38	1		1	XKR6	8	10755900	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	275375	10755900	135608122	2053	4118											
MTMR9	66036	broad.mit.edu	37	chr8	11180276	11180276	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaactggaaacagaggaCgggatgcaggagagtccctg	16	8	0	3	rs148685240		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:11180276C>T	uc003wtm.3	+	9	2027	c.1629C>T	c.(1627-1629)gaC>gaT	p.D543D	MTMR9_uc010lrx.3_Silent_p.D436D|MTMR9_uc011kxa.2_Silent_p.D458D|CR749668_uc003wtn.2_5'Flank|CR749668_uc003wto.1_Intron	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	Homo sapiens myotubularin related protein 9 (MTMR9), mRNA.	543						cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		AAACAGAGGACGGGATGCAGG	0.463													T	11180276	C	T	11180276	2	4	4	1	0	0	0	0	0	0	0	1	9950	535	19	1		1	MTMR9	8	11180276	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	424376	11180276	135183746	2054	4119											
FAM167A	83648	broad.mit.edu	37	chr8	11301681	11301681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctcagggggagcaagggCtcctgccccccacgctcccc	11	19	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:11301681C>T	uc010lry.1	-	1	860	c.240G>A	c.(238-240)gaG>gaA	p.E80E	FAM167A_uc003wtw.2_Silent_p.E80E	NM_053279	NP_444509	Q96KS9	F167A_HUMAN	Homo sapiens family with sequence similarity 167, member A (FAM167A), mRNA.	80										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						GGAGCAAGGGCTCCTGCCCCC	0.687													T	11301681	C	T	11301681	2	4	4	1	0	0	0	0	0	0	0	1	5483	796	28	2		2	FAM167A	8	11301681	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	121405	11301681	135062341	2055	4120											
GATA4	2626	broad.mit.edu	37	chr8	11615827	11615827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtcagtgcgatgtctgGccatgggccctccatccacc	10	16	3	0	rs147093296		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:11615827G>A	uc011kxc.1	+	5	1632	c.1175G>A	c.(1174-1176)gGc>gAc	p.G392D	GATA4_uc003wub.1_Missense_Mutation_p.G185D|GATA4_uc003wuc.2_Missense_Mutation_p.G391D|C8orf49_uc003wud.1_5'Flank	NM_002052	NP_002043	P43694	GATA4_HUMAN	Homo sapiens GATA binding protein 4 (GATA4), mRNA.	391					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		GCGATGTCTGGCCATGGGCCC	0.612													A	11615827	G	A	11615827	3	1	4	1	0	0	0	0	1	0	0	0	6256	1203	42	2	1194	2	GATA4	8	11615827	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	314146	11615827	134748195	2056	4121											
USP17L2	377630	broad.mit.edu	37	chr8	11996191	11996191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggatttcagcaaaagctgCatctggccgagaagatgtga	12	8	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:11996191C>T	uc003wvc.1	-	0	79	c.79G>A	c.(79-81)Gca>Aca	p.A27T	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	27					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCAAAAGCTGCATCTGGCCGA	0.527													T	11996191	C	T	11996191	3	4	4	1	0	0	0	0	1	0	0	0	17045	710	25	2	1517	2	USP17L2	8	11996191	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	380364	11996191	134367831	2057	4122											
TUSC3	7991	broad.mit.edu	37	chr8	15508247	15508247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatactggcgaactcctggcGctattcatctgctttttgta	8	10	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:15508247G>A	uc003wwt.3	+	2	694	c.350G>A	c.(349-351)cGc>cAc	p.R117H	TUSC3_uc003wwu.3_Missense_Mutation_p.R117H	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	117					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.R117H(2)|p.R117C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		AACTCCTGGCGCTATTCATCT	0.398													A	15508247	G	A	15508247	3	1	4	1	0	0	0	0	1	0	0	0	16775	1087	38	1	360	1	TUSC3	8	15508247	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3512056	15508247	130855775	2058	4123											
EFHA2	286097	broad.mit.edu	37	chr8	16956025	16956025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctattgggatacactgagacGtaacacaagccaagcactgt	9	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:16956025G>A	uc003wxd.2	+	8	989	c.947G>A	c.(946-948)cGt>cAt	p.R316H		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	Homo sapiens EF-hand domain family, member A2 (EFHA2), mRNA.	316						integral to membrane	calcium ion binding	p.R316H(2)|p.R316G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(4)	23				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		ACACTGAGACGTAACACAAGC	0.388													A	16956025	G	A	16956025	3	1	4	1	0	0	0	0	1	0	0	0	4944	1145	40	1	981	1	EFHA2	8	16956025	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1447778	16956025	129407997	2059	4124											
CNOT7	29883	broad.mit.edu	37	chr8	17092325	17092325	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagttcttcttcaggcaagTtagagttggttaggattttg	11	5	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:17092325T>C	uc003wxf.1	-	4	686	c.518A>G	c.(517-519)aAc>aGc	p.N173S	CNOT7_uc003wxg.1_Missense_Mutation_p.N173S|CNOT7_uc003wxh.1_Missense_Mutation_p.N173S	NM_013354	NP_037486	Q9UIV1	CNOT7_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 7 (CNOT7), transcript variant 1, mRNA.	173					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		TTCAGGCAAGTTAGAGTTGGT	0.338													C	17092325	T	C	17092325	3	2	4	1	0	0	0	0	1	0	0	0	3624	1725	60	3	357	3	CNOT7	8	17092325	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	136300	17092325	129271697	2060	4125											
PDGFRL	5157	broad.mit.edu	37	chr8	17486241	17486241	+	Frame_Shift_Del	DEL	G	G	-													tttactgcagggcggaggccGggggcagatctcagatctcc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:17486241delG	uc003wxr.2	+	4	812	c.751delG	c.(751-753)GGGfs	p.G251fs		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	251						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity				0				Colorectal(111;0.0752)		GGCGGAGGCCGGGGGCAGATC	0.552													-	17486241	G	-	17486241	7	5	4	1	0	1	0	1	0	0	0	0	11663	1116	39	0	765	0	PDGFRL	8	17486241	Frame_Shift_Del	DEL	G	TCGA-BR-4184-01A-01D-1126-08	393916	17486241	128877781	2061	4126											
PCM1	5108	broad.mit.edu	37	chr8	17824576	17824576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagaggcagtagtgcatcGcaccctccttctcccagttt	9	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:17824576G>A	uc022asj.1	+	19	3448	c.3426G>A	c.(3424-3426)tcG>tcA	p.S1142S	PCM1_uc003wyi.4_Silent_p.S1103S|PCM1_uc011kyh.2_Silent_p.S1103S|PCM1_uc003wyj.4_Silent_p.S1104S	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	1103					G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GTAGTGCATCGCACCCTCCTT	0.403			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								A	17824576	G	A	17824576	2	1	4	1	0	0	0	0	0	0	0	1	11584	1074	38	1		1	PCM1	8	17824576	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	338335	17824576	128539446	2062	4127											
PSD3	23362	broad.mit.edu	37	chr8	18725364	18725364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgaccaccttctttaatgCgctgttgtatcattggagtg	9	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:18725364C>T	uc003wza.3	-	3	1557	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	485					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.R485H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTCTTTAATGCGCTGTTGTAT	0.463													T	18725364	C	T	18725364	3	4	4	1	0	0	0	0	1	0	0	0	12648	768	27	1	1777	1	PSD3	8	18725364	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	900788	18725364	127638658	2063	4128											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19263549	19263549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaggtgcacatcctctccGccccagcctttgatgtccag	8	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:19263549G>A	uc011kyn.2	-	9	2405	c.1341C>T	c.(1339-1341)ggC>ggT	p.G447G	CSGALNACT1_uc011kyo.2_Silent_p.G447G|CSGALNACT1_uc003wzg.3_Non-coding_Transcript|CSGALNACT1_uc011kyp.2_Silent_p.G447G	NM_001130518	NP_060841	Q8TDX6	CGAT1_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant 1, mRNA.	447					UDP-N-acetylgalactosamine metabolic process|UDP-glucuronate metabolic process|anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CATCCTCTCCGCCCCAGCCTT	0.527													A	19263549	G	A	19263549	2	1	4	1	0	0	0	0	0	0	0	1	3938	1074	38	1		1	CSGALNACT1	8	19263549	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	538185	19263549	127100473	2064	4129											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19362852	19362852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcttctcctcggggtggCgggtaaggccagtctccagc	15	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:19362852C>T	uc011kyn.2	-	3	1558	c.494G>A	c.(493-495)cGc>cAc	p.R165H	CSGALNACT1_uc011kyo.2_Missense_Mutation_p.R165H|CSGALNACT1_uc003wzg.3_Non-coding_Transcript|CSGALNACT1_uc011kyp.2_Missense_Mutation_p.R165H|CSGALNACT1_uc003wzh.2_Non-coding_Transcript	NM_001130518	NP_060841	Q8TDX6	CGAT1_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant 1, mRNA.	165					UDP-N-acetylgalactosamine metabolic process|UDP-glucuronate metabolic process|anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CTCGGGGTGGCGGGTAAGGCC	0.557													T	19362852	C	T	19362852	3	4	4	1	0	0	0	0	1	0	0	0	3938	768	27	1	1132	1	CSGALNACT1	8	19362852	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	99303	19362852	127001170	2065	4130											
SLC18A1	6570	broad.mit.edu	37	chr8	20008198	20008198	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccatcttgttggccaacAcaccaaagaggttggtgcca	10	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:20008198A>G	uc011kyq.2	-	11	1544	c.1073T>C	c.(1072-1074)gTg>gCg	p.V358A	SLC18A1_uc003wzm.3_Missense_Mutation_p.V358A|SLC18A1_uc011kyr.2_Missense_Mutation_p.V358A|SLC18A1_uc003wzn.3_Missense_Mutation_p.V326A|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	358					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		GTTGGCCAACACACCAAAGAG	0.493													G	20008198	A	G	20008198	3	3	4	1	0	0	0	0	1	0	0	0	14425	159	6	3	528	3	SLC18A1	8	20008198	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	645346	20008198	126355824	2066	4131											
LZTS1	11178	broad.mit.edu	37	chr8	20107710	20107710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcccttggtgcgcagggcGccctccaggtcctgggtcct	15	15	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:20107710G>A	uc003wzr.3	-	2	1425	c.1314C>T	c.(1312-1314)ggC>ggT	p.G438G	LZTS1_uc010ltg.2_Silent_p.G438G	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 1 (LZTS1), mRNA.	438					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	Golgi apparatus|cell junction|dendritic spine|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGCGCAGGGCGCCCTCCAGGT	0.647													A	20107710	G	A	20107710	2	1	4	1	0	0	0	0	0	0	0	1	9138	1074	38	1		1	LZTS1	8	20107710	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	99512	20107710	126256312	2067	4132											
HR	55806	broad.mit.edu	37	chr8	21986447	21986447	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctccccattctgggggccCtcgccctccacaagtgggag	11	17	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:21986447C>A	uc003xas.3	-	1	902	c.237G>T	c.(235-237)gaG>gaT	p.E79D	HR_uc003xat.3_Missense_Mutation_p.E79D|HR_uc010lts.2_Missense_Mutation_p.E79D	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	79							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TCTGGGGGCCCTCGCCCTCCA	0.657													A	21986447	C	A	21986447	3	1	4	1	0	0	0	0	1	0	0	0	7347	680	24	5	3404	5	HR	8	21986447	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1878737	21986447	124377575	2068	4133											
BMP1	649	broad.mit.edu	37	chr8	22053019	22053019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgcgggggctgtgagcagCggtgcctcaacaccctgggc	16	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:22053019C>T	uc003xbg.3	+	12	1950	c.1684C>T	c.(1684-1686)Cgg>Tgg	p.R562W	BMP1_uc003xbf.3_Missense_Mutation_p.R311W|BMP1_uc003xbb.3_Missense_Mutation_p.R562W|BMP1_uc003xbc.3_Missense_Mutation_p.R311W|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Missense_Mutation_p.R311W|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	562	EGF-like 1; calcium-binding (Potential).				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTGTGAGCAGCGGTGCCTCAA	0.647													T	22053019	C	T	22053019	3	4	4	1	0	0	0	0	1	0	0	0	1456	759	27	1	1734	1	BMP1	8	22053019	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	66572	22053019	124311003	2069	4134											
KIAA1967	57805	broad.mit.edu	37	chr8	22473324	22473325	+	Frame_Shift_Ins	INS	-	-	C													tctcccagaggcccctccacINScccccctagaacctgctgtc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:22473323_22473324A>AC	uc003xch.3	+	12	1755_1756	c.1506_1507A>AC	c.(1504-1509)ccacccfs	p.P502fs	KIAA1967_uc003xci.3_Frame_Shift_Ins_p.P502fs|KIAA1967_uc003xcj.1_Frame_Shift_Ins_p.P171fs	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	502					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AGGCCCCTCCACCCCCCCTAGA	0.569													C	22473325	-	C	22473324	7	5	4	1	0	1	1	0	0	0	0	0	8265	507	18	0	1553	0	KIAA1967	8	22473324	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	420305	22473324	123890698	2070	4135											
RHOBTB2	23221	broad.mit.edu	37	chr8	22865592	22865592	+	Frame_Shift_Del	DEL	G	G	-													actggatggctgccatgtttGgggggccatttgtggagagc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:22865591_22865591TG>T	uc003xcp.2	+	7	1936	c.1653_1653TG>T	c.(1651-1653)tttfs	p.F551fs	RHOBTB2_uc011kzp.1_Frame_Shift_Del_p.F536fs|RHOBTB2_uc003xcq.2_Frame_Shift_Del_p.F529fs|BC043400_uc003xcr.3_Non-coding_Transcript	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN	Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.	529	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CTGCCATGTTTGGGGGGCCAT	0.562													-	22865592	G	-	22865592	7	5	4	1	0	1	0	1	0	0	0	0	13334	1348	47	0	1691	0	RHOBTB2	8	22865592	Frame_Shift_Del	DEL	G	TCGA-BR-4184-01A-01D-1126-08	392268	22865592	123498430	2071	4136											
ENTPD4	9583	broad.mit.edu	37	chr8	23294525	23294525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtgcagtagtagaattcGgagaagccatagaattcact	11	7	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:23294525G>A	uc003xdl.3	-	9	1568	c.1296C>T	c.(1294-1296)tcC>tcT	p.S432S	ENTPD4_uc011kzu.1_Silent_p.S424S|ENTPD4_uc003xdm.3_Silent_p.S424S|ENTPD4_uc011kzv.1_Silent_p.S432S	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), transcript variant 1, mRNA.	432					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		AGTAGAATTCGGAGAAGCCAT	0.473													A	23294525	G	A	23294525	2	1	4	1	0	0	0	0	0	0	0	1	5141	1103	39	1		1	ENTPD4	8	23294525	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	428933	23294525	123069497	2072	4137											
ENTPD4	9583	broad.mit.edu	37	chr8	23299095	23299095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatgacctgctgtgaggacGcaaagcttacagttttgggg	13	7	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:23299095G>A	uc003xdl.3	-	7	1141	c.869C>T	c.(868-870)gCg>gTg	p.A290V	ENTPD4_uc011kzu.1_Intron|ENTPD4_uc003xdm.3_Intron|ENTPD4_uc011kzv.1_Missense_Mutation_p.A290V	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), transcript variant 1, mRNA.	290					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		CTGTGAGGACGCAAAGCTTAC	0.463													A	23299095	G	A	23299095	3	1	4	1	0	0	0	0	1	0	0	0	5141	1087	38	1	1005	1	ENTPD4	8	23299095	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4570	23299095	123064927	2073	4138											
STC1	6781	broad.mit.edu	37	chr8	23702305	23702305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcactctcatgggatgtgCgtttgatgtgggagggagag	17	5	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:23702305C>T	uc003xdw.1	-	3	1006	c.722G>A	c.(721-723)cGc>cAc	p.R241H		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	241					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	p.R241H(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		ATGGGATGTGCGTTTGATGTG	0.507													T	23702305	C	T	23702305	3	4	4	1	0	0	0	0	1	0	0	0	15274	768	27	1	25	1	STC1	8	23702305	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	403210	23702305	122661717	2074	4139											
ADAM28	10863	broad.mit.edu	37	chr8	24167707	24167709	+	In_Frame_Del	DEL	TAT	TAT	-													caccaggctacacggaaacaTattataattccactggaaag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:24167706_24167708ATAT>A	uc003xdy.3	+	3	341_343	c.258_260ATAT>A	c.(256-261)acatat>acAt	p.Y88del	ADAM28_uc003xdx.3_In_Frame_Del_p.Y88del|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	88					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ACACGGAAACATATTATAATTCC	0.404													-	24167709	TAT	-	24167707	7	5	4	1	0	1	0	1	0	0	0	0	246	1406	49	0	273	0	ADAM28	8	24167707	In_Frame_Del	DEL	TAT	TCGA-BR-4184-01A-01D-1126-08	465402	24167707	122196315	2075	4140											
ADAM7	8756	broad.mit.edu	37	chr8	24339818	24339818	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggattttgatcatgttgtatTactcaggttggtgattgctc	11	5	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:24339818T>C	uc003xeb.3	+	8	982	c.869T>C	c.(868-870)tTa>tCa	p.L290S	ADAM7_uc003xec.3_Missense_Mutation_p.L62S	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	290	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CATGTTGTATTACTCAGGTTG	0.274													C	24339818	T	C	24339818	3	2	4	1	0	0	0	0	1	0	0	0	251	1764	61	3	903	3	ADAM7	8	24339818	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	172111	24339818	122024204	2076	4141											
NEFM	4741	broad.mit.edu	37	chr8	24771638	24771638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaggggctgaacgaccGctttgccggctacatagaga	14	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:24771638G>A	uc003xed.4	+	0	365	c.332G>A	c.(331-333)cGc>cAc	p.R111H	NEFM_uc011lac.1_Missense_Mutation_p.R111H|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	111	Coil 1A.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTGAACGACCGCTTTGCCGGC	0.642													A	24771638	G	A	24771638	3	1	4	1	0	0	0	0	1	0	0	0	10316	1087	38	1	334	1	NEFM	8	24771638	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	431820	24771638	121592384	2077	4142											
NEFM	4741	broad.mit.edu	37	chr8	24771747	24771747	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcgcacgcccagctgggCgacgcgtacgaccaggagat	14	15	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:24771747C>T	uc003xed.4	+	0	474	c.441C>T	c.(439-441)ggC>ggT	p.G147G	NEFM_uc011lac.1_Silent_p.G147G|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	147	Linker 1.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CCCAGCTGGGCGACGCGTACG	0.632													T	24771747	C	T	24771747	2	4	4	1	0	0	0	0	0	0	0	1	10316	755	27	1		1	NEFM	8	24771747	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	109	24771747	121592275	2078	4143											
DOCK5	80005	broad.mit.edu	37	chr8	25232209	25232209	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttcaacagggtggagtAcagtgtcctttcagactaaa	10	7	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:25232209A>G	uc003xeh.1	+	29	3303	c.2997A>G	c.(2995-2997)gtA>gtG	p.V999V	DOCK5_uc003xeg.3_Intron|DOCK5_uc003xek.3_Intron|DOCK5_uc003xei.3_Intron|DOCK5_uc003xej.3_Intron			Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	0						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGGGTGGAGTACAGTGTCCTT	0.403													G	25232209	A	G	25232209	2	3	4	1	0	0	0	0	0	0	0	1	4690	406	14	3		3	DOCK5	8	25232209	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	460462	25232209	121131813	2079	4144											
EBF2	64641	broad.mit.edu	37	chr8	25708132	25708132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaatccatttccattgccGctggagcaggcaggtgaagg	13	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:25708132G>A	uc003xes.2	-	14	1939	c.1674C>T	c.(1672-1674)agC>agT	p.S558S	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	558					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTCCATTGCCGCTGGAGCAGG	0.488													A	25708132	G	A	25708132	2	1	4	1	0	0	0	0	0	0	0	1	4881	1078	38	1		1	EBF2	8	25708132	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	475923	25708132	120655890	2080	4145											
ADRA1A	148	broad.mit.edu	37	chr8	26722237	26722237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctaggacctcgaagatggCggagaagggcagcaccgtgg	17	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:26722237C>T	uc003xfc.1	-	0	686	c.250G>A	c.(250-252)Gcc>Acc	p.A84T	ADRA1A_uc010lul.1_Missense_Mutation_p.A84T|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Missense_Mutation_p.A84T|ADRA1A_uc010lum.1_Missense_Mutation_p.A84T|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Missense_Mutation_p.A84T|ADRA1A_uc003xfh.1_Missense_Mutation_p.A84T|ADRA1A_uc022atd.1_Missense_Mutation_p.A84T	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	84					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TCGAAGATGGCGGAGAAGGGC	0.627													T	26722237	C	T	26722237	3	4	4	1	0	0	0	0	1	0	0	0	334	768	27	1	1449	1	ADRA1A	8	26722237	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1014105	26722237	119641785	2081	4146											
ADRA1A	148	broad.mit.edu	37	chr8	26722276	26722276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtgagcaggaggtcggCcaccgccaggttgacgatgt	18	9	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:26722276C>T	uc003xfc.1	-	0	647	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	ADRA1A_uc010lul.1_Missense_Mutation_p.A71T|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Missense_Mutation_p.A71T|ADRA1A_uc010lum.1_Missense_Mutation_p.A71T|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Missense_Mutation_p.A71T|ADRA1A_uc003xfh.1_Missense_Mutation_p.A71T|ADRA1A_uc022atd.1_Missense_Mutation_p.A71T	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	71					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	AGGAGGTCGGCCACCGCCAGG	0.607													T	26722276	C	T	26722276	3	4	4	1	0	0	0	0	1	0	0	0	334	739	26	2	1488	2	ADRA1A	8	26722276	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	39	26722276	119641746	2082	4147											
C8orf80	389643	broad.mit.edu	37	chr8	27922179	27922179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccagatgcgcatctcagCggcctctccatcccaatctc	9	17	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:27922179C>T	uc003xgm.4	-	6	924	c.781G>A	c.(781-783)Gct>Act	p.A261T		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	261						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		CGCATCTCAGCGGCCTCTCCA	0.562													T	27922179	C	T	27922179	3	4	4	1	0	0	0	0	1	0	0	0	2439	768	27	1	1661	1	C8orf80	8	27922179	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1199903	27922179	118441843	2083	4148											
ZNF395	55893	broad.mit.edu	37	chr8	28214286	28214286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctcatccatttccactgCgtccgacttcctggattcac	5	16	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:28214286C>T	uc003xgq.3	-	3	572	c.484G>A	c.(484-486)Gca>Aca	p.A162T	ZNF395_uc003xgt.3_Missense_Mutation_p.A162T|ZNF395_uc003xgr.3_Missense_Mutation_p.A162T|ZNF395_uc003xgs.3_Missense_Mutation_p.A162T	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	162					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.D161D(1)		cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		ATTTCCACTGCGTCCGACTTC	0.572													T	28214286	C	T	28214286	3	4	4	1	0	0	0	0	1	0	0	0	17878	768	27	1	1085	1	ZNF395	8	28214286	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	292107	28214286	118149736	2084	4149											
FZD3	7976	broad.mit.edu	37	chr8	28385115	28385115	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcttccacagtgacacaaGgatctcataataaagcctgt	8	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:28385115G>T	uc003xgx.3	+	4	1367	c.838G>T	c.(838-840)Gga>Tga	p.G280*	FZD3_uc010lvb.3_Nonsense_Mutation_p.G280*	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN	Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.	280					G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		AGTGACACAAGGATCTCATAA	0.383													T	28385115	G	T	28385115	4	4	4	1	0	0	0	0	0	1	0	0	6131	1001	35	5	848	5	FZD3	8	28385115	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	170829	28385115	117978907	2085	4150											
FZD3	7976	broad.mit.edu	37	chr8	28385354	28385354	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggtgacaatattagtggCgtgtgttttgttggcctcta	13	5	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:28385354C>T	uc003xgx.3	+	4	1606	c.1077C>T	c.(1075-1077)ggC>ggT	p.G359G	FZD3_uc010lvb.3_Silent_p.G359G	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN	Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.	359					G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		ATATTAGTGGCGTGTGTTTTG	0.453													T	28385354	C	T	28385354	2	4	4	1	0	0	0	0	0	0	0	1	6131	755	27	1		1	FZD3	8	28385354	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	239	28385354	117978668	2086	4151											
EXTL3	2137	broad.mit.edu	37	chr8	28575031	28575031	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgaggcggccctggtggtGccaaagcctcgtgttaccga	14	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:28575031G>A	uc003xgz.1	+	2	2048	c.1455G>A	c.(1453-1455)gtG>gtA	p.V485V		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	485						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCCTGGTGGTGCCAAAGCCTC	0.617													A	28575031	G	A	28575031	2	1	4	1	0	0	0	0	0	0	0	1	5327	1306	46	2		2	EXTL3	8	28575031	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	189677	28575031	117788991	2087	4152											
EXTL3	2137	broad.mit.edu	37	chr8	28600685	28600685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcaactgtgaggacattgCcatgaacttccttgtctccc	7	13	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:28600685C>T	uc003xgz.1	+	5	3097	c.2504C>T	c.(2503-2505)gCc>gTc	p.A835V		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	835						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GAGGACATTGCCATGAACTTC	0.507													T	28600685	C	T	28600685	3	4	4	1	0	0	0	0	1	0	0	0	5327	739	26	2	2518	2	EXTL3	8	28600685	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	25654	28600685	117763337	2088	4153											
HMBOX1	79618	broad.mit.edu	37	chr8	28876412	28876412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttacctggagaaaggagtGcctggctgttatggaaaggt	14	5	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:28876412G>A	uc003xhd.4	+	5	1175	c.833G>A	c.(832-834)tGc>tAc	p.C278Y	HMBOX1_uc010lvd.3_Missense_Mutation_p.C278Y|HMBOX1_uc010lve.3_Non-coding_Transcript|HMBOX1_uc003xhe.3_Missense_Mutation_p.C278Y|HMBOX1_uc011lay.2_Missense_Mutation_p.C278Y|HMBOX1_uc003xhg.3_Missense_Mutation_p.C266Y|HMBOX1_uc003xhf.3_Missense_Mutation_p.C266Y	NM_001135726	NP_078843	Q6NT76	HMBX1_HUMAN	Homo sapiens homeobox containing 1 (HMBOX1), transcript variant 2, mRNA.	278					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		AGAAAGGAGTGCCTGGCTGTT	0.483													A	28876412	G	A	28876412	3	1	4	1	0	0	0	0	1	0	0	0	7218	1319	46	2	851	2	HMBOX1	8	28876412	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	275727	28876412	117487610	2089	4154											
KIF13B	23303	broad.mit.edu	37	chr8	28967445	28967445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggctaacctggcgcagaCgatctaaagtcaggaggttt	13	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:28967445C>T	uc003xhh.4	-	32	4132	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H	AF086219_uc003xhi.1_5'Flank	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	1358					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CTGGCGCAGACGATCTAAAGT	0.522													T	28967445	C	T	28967445	3	4	4	1	0	0	0	0	1	0	0	0	8275	536	19	1	1439	1	KIF13B	8	28967445	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	91033	28967445	117396577	2090	4155											
GSR	2936	broad.mit.edu	37	chr8	30565642	30565642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggctcacataggcatcccGcttttccttaataacactgc	7	14	1	0	rs150594097		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:30565642G>A	uc003xih.2	-	3	573	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	GSR_uc022ato.1_Missense_Mutation_p.R147W|GSR_uc022atp.1_Missense_Mutation_p.R147W|GSR_uc022atq.1_Missense_Mutation_p.R147W	NM_000637	NP_000628	P00390	GSHR_HUMAN	Homo sapiens glutathione reductase (GSR), transcript variant 1, mRNA.	147					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TAGGCATCCCGCTTTTCCTTA	0.443													A	30565642	G	A	30565642	3	1	4	1	0	0	0	0	1	0	0	0	6828	1086	38	1	1169	1	GSR	8	30565642	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1598197	30565642	115798380	2091	4156											
PPP2CB	5516	broad.mit.edu	37	chr8	30651531	30651531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgtgtagccagcaccacGtggtgaaataccccatccac	8	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:30651531G>A	uc003xik.3	-	4	1055	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C		NM_001009552	NP_001009552	P62714	PP2AB_HUMAN	Homo sapiens protein phosphatase 2, catalytic subunit, beta isozyme (PPP2CB), mRNA.	214					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	CCAGCACCACGTGGTGAAATA	0.448													A	30651531	G	A	30651531	3	1	4	1	0	0	0	0	1	0	0	0	12381	1145	40	1	301	1	PPP2CB	8	30651531	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	85889	30651531	115712491	2092	4157											
FUT10	84750	broad.mit.edu	37	chr8	33319041	33319041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctcgtcagcccagagccCgagacaacttcacatggaag	9	14	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:33319041C>T	uc011lbi.2	-	1	286	c.120G>A	c.(118-120)tcG>tcA	p.S40S	FUT10_uc003xjd.3_5'UTR|FUT10_uc003xje.3_5'UTR|FUT10_uc003xjf.3_5'UTR|FUT10_uc003xjg.3_5'UTR|FUT10_uc003xjh.3_5'UTR|FUT10_uc003xji.1_5'UTR			Q6P4F1	FUT10_HUMAN	Homo sapiens fucosyltransferase 10 (alpha (1,3) fucosyltransferase) (FUT10), mRNA.	0					L-fucose catabolic process|embryo development|fertilization|hemopoiesis|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GCCCAGAGCCCGAGACAACTT	0.567													T	33319041	C	T	33319041	2	4	4	1	0	0	0	0	0	0	0	1	6102	667	23	1		1	FUT10	8	33319041	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2667510	33319041	113044981	2093	4158											
UNC5D	137970	broad.mit.edu	37	chr8	35544118	35544118	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcagtccagagtgtgaAcatttgcggatccgggagtg	15	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:35544118A>G	uc003xjr.2	+	6	1303	c.975A>G	c.(973-975)gaA>gaG	p.E325E	UNC5D_uc003xjs.2_Silent_p.E320E|UNC5D_uc003xjt.1_Silent_p.E94E	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	325	TSP type-1 2.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CAGAGTGTGAACATTTGCGGA	0.488													G	35544118	A	G	35544118	2	3	4	1	0	0	0	0	0	0	0	1	16992	40	2	3		3	UNC5D	8	35544118	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	2225077	35544118	110819904	2094	4159											
KCNU1	157855	broad.mit.edu	37	chr8	36780102	36780102	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcactgccttttctacGggcactgttttttccggcag	9	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:36780102G>A	uc010lvw.3	+	23	2778	c.2691G>A	c.(2689-2691)acG>acA	p.T897T	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	897	Segment S10.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCTTTTCTACGGGCACTGTTT	0.488													A	36780102	G	A	36780102	2	1	4	1	0	0	0	0	0	0	0	1	8093	1103	39	1		1	KCNU1	8	36780102	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1235984	36780102	109583920	2095	4160											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37730004	37730004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcccatgggaagagggggCgccacttcttcagctgcatc	13	13	2	1	rs148197928	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:37730004C>T	uc003xkm.2	-	3	2372	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Silent_p.A101A|RAB11FIP1_uc003xko.1_Silent_p.A101A|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	772					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GAAGAGGGGGCGCCACTTCTT	0.567													T	37730004	C	T	37730004	2	4	4	1	0	0	0	0	0	0	0	1	12893	755	27	1		1	RAB11FIP1	8	37730004	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	949902	37730004	108634018	2096	4161											
EIF4EBP1	1978	broad.mit.edu	37	chr8	37914773	37914773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcccagaagataagcgggCgggcggtgagtgtcggggct	19	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:37914773C>T	uc003xks.3	+	1	392	c.320C>T	c.(319-321)gCg>gTg	p.A107V		NM_004095	NP_004086	Q13541	4EBP1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E binding protein 1 (EIF4EBP1), mRNA.	107					G1/S transition of mitotic cell cycle|TOR signaling cascade|insulin receptor signaling pathway|positive regulation of mitotic cell cycle|translation	cytosol				endometrium(1)|lung(1)|ovary(1)|urinary_tract(1)	4	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)				GATAAGCGGGCGGGCGGTGAG	0.622													T	37914773	C	T	37914773	3	4	4	1	0	0	0	0	1	0	0	0	5032	768	27	1	326	1	EIF4EBP1	8	37914773	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	184769	37914773	108449249	2097	4162											
FGFR1	2260	broad.mit.edu	37	chr8	38271528	38271528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgcatgccagcagtcccGcatcatcatgtacctgcggc	9	16	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:38271528G>A	uc022aua.1	-	16	3142	c.2200C>T	c.(2200-2202)Cgg>Tgg	p.R734W	FGFR1_uc010lwf.3_Non-coding_Transcript|FGFR1_uc011lbu.2_Missense_Mutation_p.R765W|FGFR1_uc011lbv.2_Missense_Mutation_p.R732W|FGFR1_uc011lbw.2_Missense_Mutation_p.R645W|FGFR1_uc003xlp.3_Missense_Mutation_p.R732W|FGFR1_uc022aub.1_Missense_Mutation_p.R732W|FGFR1_uc022auc.1_Missense_Mutation_p.R645W|FGFR1_uc022aud.1_Missense_Mutation_p.R643W|FGFR1_uc010lwk.3_Missense_Mutation_p.R724W	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	734	Protein kinase.				MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CAGCAGTCCCGCATCATCATG	0.597		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"						A	38271528	G	A	38271528	3	1	4	1	0	0	0	0	1	0	0	0	5863	1086	38	1	276	1	FGFR1	8	38271528	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	356755	38271528	108092494	2098	4163											
C8orf86	389649	broad.mit.edu	37	chr8	38386081	38386081	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gactggctcaggcagtctctAaggctcctgccaactccaag	10	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:38386081A>C	uc003xlx.1	-	0	100	c.75T>G	c.(73-75)ctT>ctG	p.L25L		NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN	Homo sapiens chromosome 8 open reading frame 86 (C8orf86), mRNA.	25										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						GGCAGTCTCTAAGGCTCCTGC	0.557													C	38386081	A	C	38386081	2	2	4	1	0	0	0	0	0	0	0	1	2442	349	13	5		5	C8orf86	8	38386081	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	114553	38386081	107977941	2099	4164											
TACC1	6867	broad.mit.edu	37	chr8	38677330	38677330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttccagcccgccagacGccctccaggacgaggcgatg	12	17	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:38677330G>A	uc010lwp.3	+	2	947	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	TACC1_uc011lby.1_5'UTR|TACC1_uc003xma.3_Intron|TACC1_uc003xmb.4_Missense_Mutation_p.A145T|TACC1_uc003xlz.3_5'UTR|TACC1_uc003xmc.4_5'UTR|TACC1_uc011lbz.2_Missense_Mutation_p.A206T|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.4_Intron|TACC1_uc011lca.2_Missense_Mutation_p.A190T|TACC1_uc011lcb.2_5'UTR|TACC1_uc011lcc.2_5'UTR|TACC1_uc011lcd.2_Non-coding_Transcript|TACC1_uc003xmh.4_5'UTR|TACC1_uc010lwq.3_5'UTR	NM_006283	NP_001139688	O75410	TACC1_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 1 (TACC1), transcript variant 1, mRNA.	190	Interaction with TDRD7.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CCCGCCAGACGCCCTCCAGGA	0.587													A	38677330	G	A	38677330	3	1	4	1	0	0	0	0	1	0	0	0	15498	1087	38	1	578	1	TACC1	8	38677330	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	291249	38677330	107686692	2100	4165											
PLEKHA2	59339	broad.mit.edu	37	chr8	38810831	38810831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggaccgagaaccactgcGcaccatatttcttaaggatg	9	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:38810831G>A	uc003xmi.4	+	8	953	c.719G>A	c.(718-720)cGc>cAc	p.R240H	PLEKHA2_uc011lce.2_Missense_Mutation_p.R190H	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 (PLEKHA2), mRNA.	240	PH 2.				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding	p.R240H(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			GAACCACTGCGCACCATATTT	0.463													A	38810831	G	A	38810831	3	1	4	1	0	0	0	0	1	0	0	0	12056	1087	38	1	749	1	PLEKHA2	8	38810831	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	133501	38810831	107553191	2101	4166											
HTRA4	203100	broad.mit.edu	37	chr8	38832617	38832617	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtggtggagaaggtggcGccatcggtggttcacgtgca	19	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:38832617G>A	uc003xmj.3	+	1	649	c.534G>A	c.(532-534)gcG>gcA	p.A178A		NM_153692	NP_710159	P83105	HTRA4_HUMAN	Homo sapiens HtrA serine peptidase 4 (HTRA4), mRNA.	178					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	p.A178V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			AGAAGGTGGCGCCATCGGTGG	0.577													A	38832617	G	A	38832617	2	1	4	1	0	0	0	0	0	0	0	1	7456	1074	38	1		1	HTRA4	8	38832617	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	21786	38832617	107531405	2102	4167											
HTRA4	203100	broad.mit.edu	37	chr8	38839212	38839212	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caattcattgagggtgactgAtggaatctcctttgcaattc	9	8	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:38839212A>G	uc003xmj.3	+	5	1155	c.1040A>G	c.(1039-1041)gAt>gGt	p.D347G		NM_153692	NP_710159	P83105	HTRA4_HUMAN	Homo sapiens HtrA serine peptidase 4 (HTRA4), mRNA.	347	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			AGGGTGACTGATGGAATCTCC	0.438													G	38839212	A	G	38839212	3	3	4	1	0	0	0	0	1	0	0	0	7456	333	12	3	1062	3	HTRA4	8	38839212	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	6595	38839212	107524810	2103	4168											
ANK1	286	broad.mit.edu	37	chr8	41553956	41553956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcggccagtgggggcGgcgtgctgagcttctggggc	18	13	1	1	rs140978700		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:41553956G>A	uc003xok.3	-	25	2969	c.2885C>T	c.(2884-2886)cCg>cTg	p.P962L	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.P278L|ANK1_uc003xoi.3_Missense_Mutation_p.P962L|ANK1_uc003xoj.3_Missense_Mutation_p.P962L|ANK1_uc003xol.3_Missense_Mutation_p.P962L|ANK1_uc003xom.3_Missense_Mutation_p.P1003L	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	962	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CAGTGGGGGCGGCGTGCTGAG	0.706													A	41553956	G	A	41553956	3	1	4	1	0	0	0	0	1	0	0	0	620	1116	39	1	3154	1	ANK1	8	41553956	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2714744	41553956	104810066	2104	4169											
PLAT	5327	broad.mit.edu	37	chr8	42038027	42038027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctcctggaagcagtgggCggcagagagaatccagcagg	15	11	1	2	rs140012141		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:42038027C>T	uc003xos.2	-	9	1275	c.1066G>A	c.(1066-1068)Gcc>Acc	p.A356T	PLAT_uc010lxf.1_Missense_Mutation_p.A273T|PLAT_uc010lxg.1_Missense_Mutation_p.A181T|PLAT_uc003xot.2_Missense_Mutation_p.A310T|PLAT_uc011lcm.1_Missense_Mutation_p.A267T|PLAT_uc011lcn.1_Missense_Mutation_p.A230T	NM_000930	NP_000921	P00750	TPA_HUMAN	Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA.	356	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AAGCAGTGGGCGGCAGAGAGA	0.592													T	42038027	C	T	42038027	3	4	4	1	0	0	0	0	1	0	0	0	12021	768	27	1	642	1	PLAT	8	42038027	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	484071	42038027	104325995	2105	4170											
CHRNB3	1142	broad.mit.edu	37	chr8	42587066	42587066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaatgggaaatactgaacGcaaaggggatgaaggggaac	16	4	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:42587066G>A	uc003xpi.1	+	4	744	c.616G>A	c.(616-618)Gca>Aca	p.A206T		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	206					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AATACTGAACGCAAAGGGGAT	0.453													A	42587066	G	A	42587066	3	1	4	1	0	0	0	0	1	0	0	0	3392	1087	38	1	634	1	CHRNB3	8	42587066	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	549039	42587066	103776956	2106	4171											
CHRNB3	1142	broad.mit.edu	37	chr8	42587142	42587142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtattccttcgtcctgagacGcctgcctttattctataccc	6	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:42587142G>A	uc003xpi.1	+	4	820	c.692G>A	c.(691-693)cGc>cAc	p.R231H		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	231					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTCCTGAGACGCCTGCCTTTA	0.473													A	42587142	G	A	42587142	3	1	4	1	0	0	0	0	1	0	0	0	3392	1087	38	1	710	1	CHRNB3	8	42587142	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	76	42587142	103776880	2107	4172											
SGK196	84197	broad.mit.edu	37	chr8	42958728	42958728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacagcaggagaggcctcGccccccgagaggtgccgcca	14	15	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:42958728G>A	uc003xpw.2	+	3	296	c.37G>A	c.(37-39)Gcc>Acc	p.A13T		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	Homo sapiens protein kinase-like protein SgK196 (SGK196), mRNA.	13						integral to membrane	ATP binding|protein kinase activity										GAGAGGCCTCGCCCCCCGAGA	0.542													A	42958728	G	A	42958728	3	1	4	1	0	0	0	0	1	0	0	0	14208	1087	38	1	39	1	SGK196	8	42958728	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	371586	42958728	103405294	2108	4173											
POTEA	340441	broad.mit.edu	37	chr8	43147674	43147674	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcctcccctatgaagaAgccctttggcttcaggggca	12	13	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:43147674A>C	uc003xpz.1	+	0	90	c.47A>C	c.(46-48)aAg>aCg	p.K16T	POTEA_uc003xqa.1_Missense_Mutation_p.K16T	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	16										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCTATGAAGAAGCCCTTTGGC	0.562													C	43147674	A	C	43147674	3	2	4	1	0	0	0	0	1	0	0	0	12261	72	3	5	49	5	POTEA	8	43147674	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	188946	43147674	103216348	2109	4174											
PRKDC	5591	broad.mit.edu	37	chr8	48772316	48772316	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggaagacatataggaaggAccatctgaaatataaaaaag	10	4	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:48772316A>G	uc003xqi.3	-	46	6117	c.6060T>C	c.(6058-6060)ggT>ggC	p.G2020G	PRKDC_uc003xqj.3_Silent_p.G2020G	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2021		Cleavage; by caspase-3 (Probable).			cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TATAGGAAGGACCATCTGAAA	0.318								Non-homologous end-joining					G	48772316	A	G	48772316	2	3	4	1	0	0	0	0	0	0	0	1	12521	262	10	3		3	PRKDC	8	48772316	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	5624642	48772316	97591706	2110	4175											
EFCAB1	79645	broad.mit.edu	37	chr8	49643974	49643974	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgtttcgaaatgcattacgAtccagtccaacaaccagacc	6	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:49643974A>T	uc003xqo.2	-	1	307	c.147T>A	c.(145-147)gaT>gaA	p.D49E	EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Intron|EFCAB1_uc010lxx.2_Intron|EFCAB1_uc011ldk.1_Intron	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	Homo sapiens EF-hand calcium binding domain 1 (EFCAB1), transcript variant 1, mRNA.	49							calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				ATGCATTACGATCCAGTCCAA	0.368													T	49643974	A	T	49643974	3	4	4	1	0	0	0	0	1	0	0	0	4933	330	12	5	508	5	EFCAB1	8	49643974	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	871658	49643974	96720048	2111	4176											
SNAI2	6591	broad.mit.edu	37	chr8	49833817	49833817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcttgaccaggaaggagCgcggcatcttgccagcgggt	15	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:49833817C>T	uc003xqp.3	-	0	183	c.8G>A	c.(7-9)cGc>cAc	p.R3H		NM_003068	NP_003059	O43623	SNAI2_HUMAN	Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.	3					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CAGGAAGGAGCGCGGCATCTT	0.587													T	49833817	C	T	49833817	3	4	4	1	0	0	0	0	1	0	0	0	14827	768	27	1	810	1	SNAI2	8	49833817	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	189843	49833817	96530205	2112	4177											
PXDNL	137902	broad.mit.edu	37	chr8	52359707	52359707	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaactgtatgctggccttccAcagggagctgccctcctgca	11	14	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:52359707A>G	uc003xqu.4	-	11	1483	c.1382T>C	c.(1381-1383)gTg>gCg	p.V461A		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	461	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGGCCTTCCACAGGGAGCTG	0.517													G	52359707	A	G	52359707	3	3	4	1	0	0	0	0	1	0	0	0	12848	159	6	3	3057	3	PXDNL	8	52359707	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	2525890	52359707	94004315	2113	4178											
ATP6V1H	51606	broad.mit.edu	37	chr8	54628573	54628573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcggactggagctgcttgCcaaggtattccctgaaaaaa	11	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:54628573C>T	uc003xrl.3	-	13	1555	c.1403G>A	c.(1402-1404)gGc>gAc	p.G468D	ATP6V1H_uc003xrk.3_Missense_Mutation_p.G428D|ATP6V1H_uc003xrm.3_Missense_Mutation_p.G468D|ATP6V1H_uc003xrn.3_Missense_Mutation_p.G450D|ATP6V1H_uc011ldv.2_Missense_Mutation_p.G388D|ATP6V1H_uc010lyd.3_Missense_Mutation_p.G404D	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H (ATP6V1H), transcript variant 3, mRNA.	468					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			GAGCTGCTTGCCAAGGTATTC	0.488													T	54628573	C	T	54628573	3	4	4	1	0	0	0	0	1	0	0	0	1189	739	26	2	52	2	ATP6V1H	8	54628573	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2268866	54628573	91735449	2114	4179											
RP1	6101	broad.mit.edu	37	chr8	55541823	55541823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttggtaatttggccccagGcccaacgatggatgaactct	10	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:55541823G>A	uc003xsd.1	+	3	5529	c.5381G>A	c.(5380-5382)gGc>gAc	p.G1794D	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1794					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTGGCCCCAGGCCCAACGATG	0.458													A	55541823	G	A	55541823	3	1	4	1	0	0	0	0	1	0	0	0	13532	1203	42	2	5391	2	RP1	8	55541823	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	913250	55541823	90822199	2115	4180											
XKR4	114786	broad.mit.edu	37	chr8	56436092	56436092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctggatcgtccactgtgAgacagaattctgtatcacca	8	11	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:56436092A>G	uc003xsf.3	+	2	1291	c.1259A>G	c.(1258-1260)gAg>gGg	p.E420G		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	420						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GTCCACTGTGAGACAGAATTC	0.468													G	56436092	A	G	56436092	3	3	4	1	0	0	0	0	1	0	0	0	17430	304	11	3	1269	3	XKR4	8	56436092	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	894269	56436092	89927930	2116	4181											
PLAG1	5324	broad.mit.edu	37	chr8	57078977	57078977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttcttcctgggaatagCtcattccaaggctccccact	8	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:57078977C>T	uc003xsq.4	-	2	1779	c.1328G>A	c.(1327-1329)aGc>aAc	p.S443N	PLAG1_uc003xsr.4_Missense_Mutation_p.S443N|PLAG1_uc010lyi.3_Missense_Mutation_p.S443N|PLAG1_uc010lyj.3_Missense_Mutation_p.S361N|PLAG1_uc022aur.1_Missense_Mutation_p.S361N	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	443	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CTGGGAATAGCTCATTCCAAG	0.463			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma								T	57078977	C	T	57078977	3	4	4	1	0	0	0	0	1	0	0	0	12018	797	28	2	178	2	PLAG1	8	57078977	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	642885	57078977	89285045	2117	4182											
PLAG1	5324	broad.mit.edu	37	chr8	57079635	57079635	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgagtcaggtgatcctttcGcccaaatctctgtgcacaat	8	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:57079635G>A	uc003xsq.4	-	2	1121	c.670C>T	c.(670-672)Cga>Tga	p.R224*	PLAG1_uc003xsr.4_Nonsense_Mutation_p.R224*|PLAG1_uc010lyi.3_Nonsense_Mutation_p.R224*|PLAG1_uc010lyj.3_Nonsense_Mutation_p.R142*|PLAG1_uc022aur.1_Nonsense_Mutation_p.R142*	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	224	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TGATCCTTTCGCCCAAATCTC	0.478			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma								A	57079635	G	A	57079635	4	1	4	1	0	0	0	0	0	1	0	0	12018	1095	38	1	836	1	PLAG1	8	57079635	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	658	57079635	89284387	2118	4183											
SDR16C5	195814	broad.mit.edu	37	chr8	57219270	57219270	+	Frame_Shift_Del	DEL	A	A	-													tcaaacattccagtttttatAaaaaaggggcacacaatcgt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:57219269_57219269TA>T	uc010lyk.1	-	4	1314	c.676_676TA>A	c.(676-678)atafs	p.I226fs	SDR16C5_uc003xsy.1_Frame_Shift_Del_p.I226fs|SDR16C5_uc010lyl.1_Frame_Shift_Del_p.I182fs	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	226					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CCAGTTTTTATAAAAAAGGGG	0.323													-	57219270	A	-	57219270	7	5	4	1	0	1	0	1	0	0	0	0	13971	359	13	0	266	0	SDR16C5	8	57219270	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	139635	57219270	89144752	2119	4184											
FAM110B	90362	broad.mit.edu	37	chr8	59058997	59058997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagccaggaggtgatcaacGccaagcaggagcccgtgaag	15	10	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:59058997G>A	uc022auu.1	+	0	208	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	FAM110B_uc003xtj.1_Missense_Mutation_p.A70T	NM_147189	NP_671722	Q8TC76	F110B_HUMAN	Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.	70						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GGTGATCAACGCCAAGCAGGA	0.682													A	59058997	G	A	59058997	3	1	4	1	0	0	0	0	1	0	0	0	5397	1087	38	1	210	1	FAM110B	8	59058997	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1839727	59058997	87305025	2120	4185											
CYP7A1	1581	broad.mit.edu	37	chr8	59409213	59409213	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggaatggtgtttgcttgCgatgcccagaggaccacgag	15	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:59409213C>T	uc003xtm.4	-	2	921	c.858G>A	c.(856-858)tcG>tcA	p.S286S		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	286					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	p.S286L(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TGTTTGCTTGCGATGCCCAGA	0.423									Neonatal Giant Cell Hepatitis				T	59409213	C	T	59409213	2	4	4	1	0	0	0	0	0	0	0	1	4196	755	27	1		1	CYP7A1	8	59409213	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	350216	59409213	86954809	2121	4186											
NSMAF	8439	broad.mit.edu	37	chr8	59555553	59555553	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcttccttacctttcatggtGactgcccttgtgcaaaatgt	8	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:59555553G>A	uc011lee.2	-	1	293	c.232C>T	c.(232-234)Cac>Tac	p.H78Y	NSMAF_uc003xtt.3_Missense_Mutation_p.H47Y	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	47					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CTTTCATGGTGACTGCCCTTG	0.398													A	59555553	G	A	59555553	3	1	4	1	0	0	0	0	1	0	0	0	10674	1290	45	4	2734	4	NSMAF	8	59555553	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	146340	59555553	86808469	2122	4187											
TOX	9760	broad.mit.edu	37	chr8	59728227	59728227	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccatggaacaccgacggcttCgaattgatcagctgaggagg	13	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:59728227C>T	uc003xtw.1	-	6	1283	c.1062G>A	c.(1060-1062)tcG>tcA	p.S354S		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	354						nucleus	DNA binding	p.S354L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CCGACGGCTTCGAATTGATCA	0.517													T	59728227	C	T	59728227	2	4	4	1	0	0	0	0	0	0	0	1	16374	871	31	1		1	TOX	8	59728227	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	172674	59728227	86635795	2123	4188											
CHD7	55636	broad.mit.edu	37	chr8	61743054	61743054	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacatttctttccaaaggCggtggtcaagctaacgtacc	8	11	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:61743054C>T	uc003xue.3	+	14	4188	c.3696C>T	c.(3694-3696)ggC>ggT	p.G1232G	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1232					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTTCCAAAGGCGGTGGTCAAG	0.418													T	61743054	C	T	61743054	2	4	4	1	0	0	0	0	0	0	0	1	3330	755	27	1		1	CHD7	8	61743054	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2014827	61743054	84620968	2124	4189											
GGH	8836	broad.mit.edu	37	chr8	63948266	63948266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagtactttacataggacGcagcaatatagtatcttcca	6	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:63948266G>A	uc003xuw.3	-	1	456	c.173C>T	c.(172-174)gCg>gTg	p.A58V		NM_003878	NP_003869	Q92820	GGH_HUMAN	Homo sapiens gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) (GGH), mRNA.	58	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	TACATAGGACGCAGCAATATA	0.308													A	63948266	G	A	63948266	3	1	4	1	0	0	0	0	1	0	0	0	6357	1087	38	1	815	1	GGH	8	63948266	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2205212	63948266	82415756	2125	4190											
YTHDF3	253943	broad.mit.edu	37	chr8	64099768	64099768	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtgctggaaaagctaaaggCcataaacaactataatccca	7	10	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:64099768C>A	uc003xuy.3	+	4	1512	c.1196C>A	c.(1195-1197)gCc>gAc	p.A399D	YTHDF3_uc010lys.3_Missense_Mutation_p.A344D|YTHDF3_uc003xuz.3_Missense_Mutation_p.A344D|YTHDF3_uc003xva.3_Missense_Mutation_p.A344D|YTHDF3_uc011len.2_Missense_Mutation_p.A344D	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	Homo sapiens YTH domain family, member 3 (YTHDF3), mRNA.	400												Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			AAGCTAAAGGCCATAAACAAC	0.408													A	64099768	C	A	64099768	3	1	4	1	0	0	0	0	1	0	0	0	17497	739	26	5	1212	5	YTHDF3	8	64099768	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	151502	64099768	82264254	2126	4191											
TRIM55	84675	broad.mit.edu	37	chr8	67061935	67061935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtttgattacctgtatgGcattttggaggagaggaaga	14	3	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:67061935G>A	uc003xvv.3	+	4	885	c.659G>A	c.(658-660)gGc>gAc	p.G220D	TRIM55_uc003xvu.3_Missense_Mutation_p.G220D|TRIM55_uc003xvw.3_Missense_Mutation_p.G220D|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	220						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TACCTGTATGGCATTTTGGAG	0.383													A	67061935	G	A	67061935	3	1	4	1	0	0	0	0	1	0	0	0	16526	1203	42	2	677	2	TRIM55	8	67061935	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2962167	67061935	79302087	2127	4192											
SGK3	23678	broad.mit.edu	37	chr8	67734620	67734620	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttttagtccagatgtcagaGcattccttcaaatggacagt	8	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:67734620G>T	uc003xwp.3	+	7	974	c.343G>T	c.(343-345)Gca>Tca	p.A115S	SGK3_uc003xwr.3_Missense_Mutation_p.A115S|SGK3_uc003xwt.3_Missense_Mutation_p.A115S|SGK3_uc003xwu.3_Missense_Mutation_p.A115S	NM_001204173	NP_001191102	Q96BR1	SGK3_HUMAN	Homo sapiens C8orf44-SGK3 readthrough (C8orf44-SGK3), mRNA.	115	PX.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGATGTCAGAGCATTCCTTCA	0.328													T	67734620	G	T	67734620	3	4	4	1	0	0	0	0	1	0	0	0	14212	971	34	5	361	5	SGK3	8	67734620	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	672685	67734620	78629402	2128	4193											
SGK3	23678	broad.mit.edu	37	chr8	67752239	67752239	+	Splice_Site	DEL	T	T	-													cccacaaccaatttgacagcTttttttccacttacaaagag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:67752238_67752238CT>C	uc003xwp.3	+	13	1373	c.742_splice	c.e13-1	p.L248_splice	SGK3_uc003xwr.3_Splice_Site_p.L248_splice|SGK3_uc003xwt.3_Splice_Site_p.L248_splice|SGK3_uc003xwu.3_Splice_Site_p.L248_splice	NM_001204173	NP_001191102	Q96BR1	SGK3_HUMAN	Homo sapiens C8orf44-SGK3 readthrough (C8orf44-SGK3), mRNA.	248	Protein kinase.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AATTTGACAGCTTTTTTTCCA	0.403													-	67752239	T	-	67752239	8	5	4	1	0	1	0	1	0	0	1	0	14212	1623	56	0	781	0	SGK3	8	67752239	Splice_Site	DEL	T	TCGA-BR-4184-01A-01D-1126-08	17619	67752239	78611783	2129	4194											
ARFGEF1	10565	broad.mit.edu	37	chr8	68169965	68169965	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgacttaaaagaaaacatAcctgtggactgtgaaggtct	9	7	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:68169965A>G	uc003xxo.2	-	17	2916	c.2526_splice	c.e17+1	p.Q842_splice	ARFGEF1_uc003xxl.1_Splice_Site_p.Q296_splice	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	842					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AAGAAAACATACCTGTGGACT	0.308													G	68169965	A	G	68169965	5	3	4	1	0	0	0	0	0	0	1	0	852	405	14	3	3113	3	ARFGEF1	8	68169965	Splice_Site	SNP	A	TCGA-BR-4184-01A-01D-1126-08	417726	68169965	78194057	2130	4195											
PREX2	80243	broad.mit.edu	37	chr8	69021701	69021701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccatcacaaccatggcgGccccttcaggtctgtctctg	8	16	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:69021701G>A	uc003xxv.1	+	24	3016	c.2989G>A	c.(2989-2991)Gcc>Acc	p.A997T	PREX2_uc011lez.1_Missense_Mutation_p.A932T	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	997					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AACCATGGCGGCCCCTTCAGG	0.458													A	69021701	G	A	69021701	3	1	4	1	0	0	0	0	1	0	0	0	12477	1203	42	2	3316	2	PREX2	8	69021701	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	851736	69021701	77342321	2131	4196											
SLCO5A1	81796	broad.mit.edu	37	chr8	70585449	70585449	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaaaatacacaaaacgAaacgacgtcacgttgtactc	5	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:70585449A>G	uc003xyl.3	-	9	2909	c.2202T>C	c.(2200-2202)ttT>ttC	p.F734F	SLCO5A1_uc010lzb.3_Silent_p.F679F|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	734						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ACACAAAACGAAACGACGTCA	0.468													G	70585449	A	G	70585449	2	3	4	1	0	0	0	0	0	0	0	1	14731	243	9	3		3	SLCO5A1	8	70585449	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1563748	70585449	75778573	2132	4197											
TRPA1	8989	broad.mit.edu	37	chr8	72968043	72968043	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgcataatgtagaggagtAcacccatcgttgtcttcatc	8	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:72968043A>G	uc003xza.3	-	10	1417	c.1242T>C	c.(1240-1242)tgT>tgC	p.C414C	LOC100132891_uc011lff.2_Non-coding_Transcript|LOC100132891_uc022avt.1_Non-coding_Transcript|LOC100132891_uc003xyy.3_Non-coding_Transcript	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	414						integral to plasma membrane		p.C414S(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GTAGAGGAGTACACCCATCGT	0.363													G	72968043	A	G	72968043	2	3	4	1	0	0	0	0	0	0	0	1	16574	389	14	3		3	TRPA1	8	72968043	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	2382594	72968043	73395979	2133	4198											
TRPA1	8989	broad.mit.edu	37	chr8	72987551	72987551	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taccttaagcgattccttgaAatcctccgtgtcgtccggca	8	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:72987551A>C	uc003xza.3	-	0	269	c.94T>G	c.(94-96)Ttc>Gtc	p.F32V		NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	32						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GATTCCTTGAAATCCTCCGTG	0.632													C	72987551	A	C	72987551	3	2	4	1	0	0	0	0	1	0	0	0	16574	14	1	5	3373	5	TRPA1	8	72987551	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	19508	72987551	73376471	2134	4199											
STAU2	27067	broad.mit.edu	37	chr8	74526000	74526000	+	Frame_Shift_Del	DEL	T	T	-													tttactattgttttagggcgTtttttaaaaaatagttttgg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:74525999_74525999GT>G	uc003xzm.3	-	8	1212	c.871_871AC>C	c.(871-873)cgcfs	p.R291fs	STAU2_uc011lfh.2_Frame_Shift_Del_p.R187fs|STAU2_uc003xzn.3_Frame_Shift_Del_p.R259fs|STAU2_uc011lfg.2_Frame_Shift_Del_p.R119fs|STAU2_uc003xzo.3_Frame_Shift_Del_p.R291fs|STAU2_uc003xzq.3_Frame_Shift_Del_p.R71fs|STAU2_uc003xzp.3_Frame_Shift_Del_p.R259fs|STAU2_uc011lfi.2_Frame_Shift_Del_p.R253fs|STAU2_uc010lzk.3_Frame_Shift_Del_p.R259fs|STAU2_uc010lzl.1_Frame_Shift_Del_p.R119fs	NM_001164380	NP_001157855	Q9NUL3	STAU2_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA.	291					transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GTTTTAGGGCGTTTTTTAAAA	0.343													-	74526000	T	-	74526000	7	5	4	1	0	1	0	1	0	0	0	0	15272	1722	60	0	994	0	STAU2	8	74526000	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	1538449	74526000	71838022	2135	4200											
ZFHX4	79776	broad.mit.edu	37	chr8	77763549	77763549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctatatgcctccttgccCgtgaatggagaactgtgggc	12	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:77763549C>T	uc003yau.2	+	9	4779	c.4392C>T	c.(4390-4392)ccC>ccT	p.P1464P	ZFHX4_uc003yaw.1_Silent_p.P1419P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1419						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1464P(2)|p.P1464H(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTCCTTGCCCGTGAATGGAG	0.507										HNSCC(33;0.089)			T	77763549	C	T	77763549	2	4	4	1	0	0	0	0	0	0	0	1	17632	639	23	1		1	ZFHX4	8	77763549	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3237549	77763549	68600473	2136	4201											
ZFHX4	79776	broad.mit.edu	37	chr8	77763597	77763597	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaactatgtcccaggatgaCcatggcctagagcaggaaat	11	9	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:77763597C>A	uc003yau.2	+	9	4827	c.4440C>A	c.(4438-4440)gaC>gaA	p.D1480E	ZFHX4_uc003yaw.1_Missense_Mutation_p.D1435E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1435						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCCAGGATGACCATGGCCTAG	0.507										HNSCC(33;0.089)			A	77763597	C	A	77763597	3	1	4	1	0	0	0	0	1	0	0	0	17632	506	18	5	4474	5	ZFHX4	8	77763597	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	48	77763597	68600425	2137	4202											
ZFHX4	79776	broad.mit.edu	37	chr8	77766285	77766285	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acggatgcagctaaaaacgcTgctgcccctgcagcaagttc	10	13	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:77766285T>C	uc003yau.2	+	9	7515	c.7128T>C	c.(7126-7128)gcT>gcC	p.A2376A	ZFHX4_uc003yaw.1_Silent_p.A2331A	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2331	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTAAAAACGCTGCTGCCCCTG	0.517										HNSCC(33;0.089)			C	77766285	T	C	77766285	2	2	4	1	0	0	0	0	0	0	0	1	17632	1567	55	3		3	ZFHX4	8	77766285	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	2688	77766285	68597737	2138	4203											
ZFHX4	79776	broad.mit.edu	37	chr8	77766752	77766752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctccgttcttggaaaggcCcatggacatgccctacatga	9	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:77766752C>T	uc003yau.2	+	9	7982	c.7595C>T	c.(7594-7596)cCc>cTc	p.P2532L	ZFHX4_uc003yaw.1_Missense_Mutation_p.P2487L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2487						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTGGAAAGGCCCATGGACATG	0.527										HNSCC(33;0.089)			T	77766752	C	T	77766752	3	4	4	1	0	0	0	0	1	0	0	0	17632	623	22	4	7629	4	ZFHX4	8	77766752	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	467	77766752	68597270	2139	4204											
PKIA	5569	broad.mit.edu	37	chr8	79514053	79514053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcagcaaaatctgaaagCtaacaccccactttgaccct	6	13	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:79514053C>T	uc003yba.3	+	3	752	c.228C>T	c.(226-228)agC>agT	p.S76S	PKIA_uc003ybb.3_Silent_p.S76S|PKIA_uc010lzo.3_Silent_p.S76S	NM_006823	NP_862822	P61925	IPKA_HUMAN	Homo sapiens protein kinase (cAMP-dependent, catalytic) inhibitor alpha (PKIA), transcript variant 1, mRNA.	76							cAMP-dependent protein kinase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						AATCTGAAAGCTAACACCCCA	0.428													T	79514053	C	T	79514053	2	4	4	1	0	0	0	0	0	0	0	1	11973	796	28	2		2	PKIA	8	79514053	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1747301	79514053	66849969	2140	4205											
ZNF704	619279	broad.mit.edu	37	chr8	81577073	81577073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaagcatggtcagtgtgcaCgaggtagagggtggtgggag	20	4	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:81577073C>T	uc003yby.2	-	5	1136	c.904G>A	c.(904-906)Gtg>Atg	p.V302M		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	Homo sapiens zinc finger protein 704 (ZNF704), mRNA.	302						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCAGTGTGCACGAGGTAGAGG	0.537													T	81577073	C	T	81577073	3	4	4	1	0	0	0	0	1	0	0	0	18104	536	19	1	350	1	ZNF704	8	81577073	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2063020	81577073	64786949	2141	4206											
FABP5	2171	broad.mit.edu	37	chr8	82195629	82195629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagctttgcgaaaaatgggCgcaatggccaagccagattg	12	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:82195629C>T	uc003yca.2	+	1	221	c.108C>T	c.(106-108)ggC>ggT	p.G36G		NM_001444	NP_001435	Q01469	FABP5_HUMAN	Homo sapiens fatty acid binding protein 5 (psoriasis-associated) (FABP5), mRNA.	36					epidermis development	cytoplasm	fatty acid binding|protein binding|transporter activity			large_intestine(1)|lung(3)	4	Lung NSC(7;3.57e-05)|all_lung(9;0.00011)		Epithelial(68;0.102)			GAAAAATGGGCGCAATGGCCA	0.373													T	82195629	C	T	82195629	2	4	4	1	0	0	0	0	0	0	0	1	5360	755	27	1		1	FABP5	8	82195629	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	618556	82195629	64168393	2142	4207											
CA3	761	broad.mit.edu	37	chr8	86357402	86357402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagataggacatgagaatggCgagttccagattttccttga	11	7	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:86357402C>T	uc003ydj.3	+	4	545	c.462C>T	c.(460-462)ggC>ggT	p.G154G	CA3_uc011lfv.2_Non-coding_Transcript	NM_005181	NP_005172	P07451	CAH3_HUMAN	Homo sapiens carbonic anhydrase III, muscle specific (CA3), mRNA.	154					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ATGAGAATGGCGAGTTCCAGA	0.343													T	86357402	C	T	86357402	2	4	4	1	0	0	0	0	0	0	0	1	2517	755	27	1		1	CA3	8	86357402	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4161773	86357402	60006620	2143	4208											
WWP1	11059	broad.mit.edu	37	chr8	87393781	87393781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcaagtttggagccatcGcactttaaaagcagatgctt	8	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:87393781G>A	uc003ydt.3	+	4	537	c.257G>A	c.(256-258)cGc>cAc	p.R86H	WWP1_uc010mai.3_5'UTR	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA.	86	C2.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.R86H(2)		endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGGAGCCATCGCACTTTAAAA	0.338													A	87393781	G	A	87393781	3	1	4	1	0	0	0	0	1	0	0	0	17412	1087	38	1	267	1	WWP1	8	87393781	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1036379	87393781	58970241	2144	4209											
WWP1	11059	broad.mit.edu	37	chr8	87447904	87447904	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaagatcaatgtgtcccggCagacattgtttgaagattcc	9	8	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:87447904C>T	uc003ydt.3	+	15	2000	c.1720C>T	c.(1720-1722)Cag>Tag	p.Q574*	WWP1_uc010mai.3_Nonsense_Mutation_p.Q350*	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA.	574					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGTGTCCCGGCAGACATTGTT	0.328													T	87447904	C	T	87447904	4	4	4	1	0	0	0	0	0	1	0	0	17412	711	25	2	1774	2	WWP1	8	87447904	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	54123	87447904	58916118	2145	4210											
OSGIN2	734	broad.mit.edu	37	chr8	90937134	90937134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctataaacaaaggaaagttgCgtggcaaagtggatccagtg	12	6	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:90937134C>T	uc003yeh.3	+	5	1284	c.1024C>T	c.(1024-1026)Cgt>Tgt	p.R342C	OSGIN2_uc003yeg.3_Missense_Mutation_p.R298C	NM_001126111	NP_004328	Q9Y236	OSGI2_HUMAN	Homo sapiens oxidative stress induced growth inhibitor family member 2 (OSGIN2), transcript variant 1, mRNA.	298					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AGGAAAGTTGCGTGGCAAAGT	0.438													T	90937134	C	T	90937134	3	4	4	1	0	0	0	0	1	0	0	0	11290	768	27	1	1046	1	OSGIN2	8	90937134	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3489230	90937134	55426888	2146	4211											
RUNX1T1	862	broad.mit.edu	37	chr8	92998493	92998493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtctgcttcttgacaccGccttagtacggtgagagatc	11	12	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:92998493G>A	uc022axs.1	-	8	1502	c.1315C>T	c.(1315-1317)Cgg>Tgg	p.R439W	RUNX1T1_uc003yfc.2_Missense_Mutation_p.R353W|RUNX1T1_uc010mam.3_Missense_Mutation_p.R353W|RUNX1T1_uc003yfe.2_Missense_Mutation_p.R343W|RUNX1T1_uc003yfd.3_Missense_Mutation_p.R380W|RUNX1T1_uc022axo.1_Missense_Mutation_p.R380W|RUNX1T1_uc010mao.3_Missense_Mutation_p.R353W|RUNX1T1_uc011lgi.2_Missense_Mutation_p.R391W|RUNX1T1_uc022axp.1_Missense_Mutation_p.R380W|RUNX1T1_uc022axq.1_Missense_Mutation_p.R380W|RUNX1T1_uc022axr.1_Missense_Mutation_p.R380W|RUNX1T1_uc022axt.1_Missense_Mutation_p.R380W|RUNX1T1_uc022axu.1_Missense_Mutation_p.R360W|RUNX1T1_uc022axv.1_Missense_Mutation_p.R380W|RUNX1T1_uc010man.2_5'UTR|RUNX1T1_uc003yfb.2_Missense_Mutation_p.R343W	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	380					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCTTGACACCGCCTTAGTACG	0.478													A	92998493	G	A	92998493	3	1	4	1	0	0	0	0	1	0	0	0	13747	1086	38	1	692	1	RUNX1T1	8	92998493	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2061359	92998493	53365529	2147	4212											
RUNX1T1	862	broad.mit.edu	37	chr8	93017525	93017525	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcaggggcaagttggCctgcaagggaatgacaggaa	16	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:93017525C>T	uc022axs.1	-	6	923	c.736_splice	c.e6-1	p.A246_splice	RUNX1T1_uc003yfc.2_Splice_Site_p.A160_splice|RUNX1T1_uc010mam.3_Splice_Site_p.A160_splice|RUNX1T1_uc003yfe.2_Splice_Site_p.A150_splice|RUNX1T1_uc003yfd.3_Splice_Site_p.A187_splice|RUNX1T1_uc022axo.1_Splice_Site_p.A187_splice|RUNX1T1_uc010mao.3_Splice_Site_p.A160_splice|RUNX1T1_uc011lgi.2_Splice_Site_p.A198_splice|RUNX1T1_uc022axp.1_Splice_Site_p.A187_splice|RUNX1T1_uc022axq.1_Splice_Site_p.A187_splice|RUNX1T1_uc022axr.1_Splice_Site_p.A187_splice|RUNX1T1_uc022axt.1_Splice_Site_p.A187_splice|RUNX1T1_uc022axu.1_Splice_Site_p.A167_splice|RUNX1T1_uc022axv.1_Splice_Site_p.A187_splice|RUNX1T1_uc003yfb.2_Splice_Site_p.A150_splice|RUNX1T1_uc003yff.1_Splice_Site_p.A150_splice	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	187					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GGCAAGTTGGCCTGCAAGGGA	0.532													T	93017525	C	T	93017525	5	4	4	1	0	0	0	0	0	0	1	0	13747	753	26	2	1283	2	RUNX1T1	8	93017525	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	19032	93017525	53346497	2148	4213											
CDH17	1015	broad.mit.edu	37	chr8	95189851	95189851	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatcttgtttccctgtccaaGgctctgttgtaatacagaag	9	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:95189851G>T	uc003ygh.2	-	3	374	c.249C>A	c.(247-249)gcC>gcA	p.A83A	CDH17_uc011lgo.1_Silent_p.A83A|CDH17_uc011lgp.1_Silent_p.A83A	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	83	Cadherin 1.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCCTGTCCAAGGCTCTGTTGT	0.448													T	95189851	G	T	95189851	2	4	4	1	0	0	0	0	0	0	0	1	3102	987	35	5		5	CDH17	8	95189851	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2172326	95189851	51174171	2149	4214											
RAD54B	25788	broad.mit.edu	37	chr8	95423510	95423510	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatttctcttcttgttccTtggacactgctacttcttta	5	11	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:95423510T>C	uc003ygk.3	-	3	469	c.338A>G	c.(337-339)aAg>aGg	p.K113R	RAD54B_uc010may.2_5'UTR|RAD54B_uc003ygl.2_Non-coding_Transcript	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TTCTTGTTCCTTGGACACTGC	0.323								Direct reversal of damage;Homologous recombination					C	95423510	T	C	95423510	3	2	4	1	0	0	0	0	1	0	0	0	12992	1609	56	3	2442	3	RAD54B	8	95423510	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	233659	95423510	50940512	2150	4215											
KIAA1429	25962	broad.mit.edu	37	chr8	95523709	95523709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaagcgctgaaggaacacGcatgtccttaaactcaaagg	9	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:95523709G>A	uc003ygo.2	-	12	3165	c.3094C>T	c.(3094-3096)Cgt>Tgt	p.R1032C	KIAA1429_uc003ygp.3_Missense_Mutation_p.R1032C|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1032					RNA splicing|mRNA processing	nucleus		p.R1032H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GAAGGAACACGCATGTCCTTA	0.423													A	95523709	G	A	95523709	3	1	4	1	0	0	0	0	1	0	0	0	8231	1087	38	1	2446	1	KIAA1429	8	95523709	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	100199	95523709	50840313	2151	4216											
ESRP1	54845	broad.mit.edu	37	chr8	95680362	95680362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtaggccaacaggggacGcttttgtcctctttgcctgt	12	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:95680362G>A	uc003ygq.4	+	9	1300	c.1117G>A	c.(1117-1119)Gct>Act	p.A373T	ESRP1_uc003ygr.4_Missense_Mutation_p.A373T|ESRP1_uc003ygs.4_Missense_Mutation_p.A373T|ESRP1_uc003ygt.4_Missense_Mutation_p.A373T|ESRP1_uc003ygu.4_Missense_Mutation_p.A373T|ESRP1_uc003ygv.3_Missense_Mutation_p.A213T|ESRP1_uc003ygw.3_Missense_Mutation_p.A213T	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	373	RRM 2.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AACAGGGGACGCTTTTGTCCT	0.483													A	95680362	G	A	95680362	3	1	4	1	0	0	0	0	1	0	0	0	5258	1087	38	1	1155	1	ESRP1	8	95680362	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	156653	95680362	50683660	2152	4217											
INTS8	55656	broad.mit.edu	37	chr8	95886789	95886789	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttttgtaggtaataaaaCgaatgataaaatgttgttct	8	3	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:95886789C>T	uc003yhb.3	+	22	2773	c.2647C>T	c.(2647-2649)Cga>Tga	p.R883*	INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Intron	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	883					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GGTAATAAAACGAATGATAAA	0.284													T	95886789	C	T	95886789	4	4	4	1	0	0	0	0	0	1	0	0	7784	528	19	1	2737	1	INTS8	8	95886789	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	206427	95886789	50477233	2153	4218											
PLEKHF2	79666	broad.mit.edu	37	chr8	96166313	96166313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgaagcaaatactagacGtataagtatagtggaaaact	9	5	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:96166313G>A	uc022ayk.1	+	0	41	c.41G>A	c.(40-42)cGt>cAt	p.R14H	PLEKHF2_uc003yhn.2_Missense_Mutation_p.R14H	NM_024613	NP_078889	Q9H8W4	PKHF2_HUMAN	Homo sapiens pleckstrin homology domain containing, family F (with FYVE domain) member 2 (PLEKHF2), mRNA.	14						transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					AATACTAGACGTATAAGTATA	0.348													A	96166313	G	A	96166313	3	1	4	1	0	0	0	0	1	0	0	0	12067	1145	40	1	43	1	PLEKHF2	8	96166313	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	279524	96166313	50197709	2154	4219											
GDF6	392255	broad.mit.edu	37	chr8	97157065	97157065	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagtcgtcccagcccagcTccttgaagttcacgtgcagg	10	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:97157065T>C	uc003yhp.3	-	1	1194	c.1094A>G	c.(1093-1095)gAg>gGg	p.E365G		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	Homo sapiens growth differentiation factor 6 (GDF6), mRNA.	365					BMP signaling pathway|activin receptor signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CCAGCCCAGCTCCTTGAAGTT	0.662													C	97157065	T	C	97157065	3	2	4	1	0	0	0	0	1	0	0	0	6317	1551	54	3	277	3	GDF6	8	97157065	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	990752	97157065	49206957	2155	4220											
GDF6	392255	broad.mit.edu	37	chr8	97157131	97157131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcttgccgtgccgcttgCcatggcgactggcgaaggcc	13	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:97157131C>T	uc003yhp.3	-	1	1128	c.1028G>A	c.(1027-1029)gGc>gAc	p.G343D		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	Homo sapiens growth differentiation factor 6 (GDF6), mRNA.	343					BMP signaling pathway|activin receptor signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GTGCCGCTTGCCATGGCGACT	0.721													T	97157131	C	T	97157131	3	4	4	1	0	0	0	0	1	0	0	0	6317	739	26	2	343	2	GDF6	8	97157131	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	66	97157131	49206891	2156	4221											
LAPTM4B	55353	broad.mit.edu	37	chr8	98827574	98827574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacatgtgcattgccattgCgatttctcttctcatgatcc	7	11	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:98827574C>T	uc003yia.3	+	2	659	c.503C>T	c.(502-504)gCg>gTg	p.A168V	LAPTM4B_uc010mbg.3_Intron	NM_018407	NP_060877	Q86VI4	LAP4B_HUMAN	Homo sapiens lysosomal protein transmembrane 4 beta (LAPTM4B), mRNA.	221					transport	endomembrane system|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			ATTGCCATTGCGATTTCTCTT	0.413													T	98827574	C	T	98827574	3	4	4	1	0	0	0	0	1	0	0	0	8625	768	27	1	513	1	LAPTM4B	8	98827574	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1670443	98827574	47536448	2157	4222											
POP1	10940	broad.mit.edu	37	chr8	99148735	99148735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttagaggaaataaaagcagCgtgccagtgtgtggaaccca	12	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:99148735C>T	uc003yij.4	+	7	1137	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V	POP1_uc011lgv.2_Missense_Mutation_p.A346V|POP1_uc003yik.3_Missense_Mutation_p.A346V	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	346					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			ATAAAAGCAGCGTGCCAGTGT	0.353													T	99148735	C	T	99148735	3	4	4	1	0	0	0	0	1	0	0	0	12251	768	27	1	1063	1	POP1	8	99148735	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	321161	99148735	47215287	2158	4223											
VPS13B	157680	broad.mit.edu	37	chr8	100866085	100866085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttaaatgaaggcaagagcAtcctctgtgatattaatgag	9	7	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:100866085A>G	uc003yiv.3	+	55	10654	c.10543A>G	c.(10543-10545)Atc>Gtc	p.I3515V	VPS13B_uc003yiw.3_Missense_Mutation_p.I3490V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3515					protein transport			p.S3514N(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGGCAAGAGCATCCTCTGTGA	0.358													G	100866085	A	G	100866085	3	3	4	1	0	0	0	0	1	0	0	0	17187	217	8	3	10955	3	VPS13B	8	100866085	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1717350	100866085	45497937	2159	4224											
RGS22	26166	broad.mit.edu	37	chr8	101018332	101018332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgagtttcttccaccagCtccacctaaaaaaaataaat	4	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:101018332C>T	uc003yjb.1	-	15	2562	c.2367G>A	c.(2365-2367)gaG>gaA	p.E789E	RGS22_uc003yja.1_Silent_p.E608E|RGS22_uc003yjc.1_Silent_p.E777E|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Silent_p.E178E	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	789					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTCCACCAGCTCCACCTAAA	0.373													T	101018332	C	T	101018332	2	4	4	1	0	0	0	0	0	0	0	1	13305	796	28	2		2	RGS22	8	101018332	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	152247	101018332	45345690	2160	4225											
FBXO43	286151	broad.mit.edu	37	chr8	101153265	101153265	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctcttttttcagagTcagggtggacaatctgcttt	10	9	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:101153265T>C	uc003yjd.3	-	1	1953	c.1217A>G	c.(1216-1218)gAc>gGc	p.D406G	FBXO43_uc003yje.3_Missense_Mutation_p.D372G|FBXO43_uc010mbp.2_Missense_Mutation_p.D406G	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	406					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TTTTTCAGAGTCAGGGTGGAC	0.468													C	101153265	T	C	101153265	3	2	4	1	0	0	0	0	1	0	0	0	5752	1667	58	3	925	3	FBXO43	8	101153265	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	134933	101153265	45210757	2161	4226											
POLR2K	5440	broad.mit.edu	37	chr8	101165527	101165527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaattaatacagtggtcGtttttgatgctcgatgaatg	9	6	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:101165527G>A	uc003yjf.3	+	3	268	c.160G>A	c.(160-162)Gtt>Att	p.V54I		NM_005034	NP_005025	P53803	RPAB4_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa (POLR2K), mRNA.	54					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.59e-09)|all cancers(13;1.74e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TACAGTGGTCGTTTTTGATGC	0.353													A	101165527	G	A	101165527	3	1	4	1	0	0	0	0	1	0	0	0	12226	1145	40	1	170	1	POLR2K	8	101165527	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	12262	101165527	45198495	2162	4227											
SPAG1	6674	broad.mit.edu	37	chr8	101232554	101232554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaacctcttctgaggcgggCgatggcctatgaaactctag	12	10	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:101232554C>T	uc003yjh.2	+	12	1669	c.1583C>T	c.(1582-1584)gCg>gTg	p.A528V	SPAG1_uc003yji.2_Missense_Mutation_p.A528V	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA.	528					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	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)		CTGAGGCGGGCGATGGCCTAT	0.403													T	101232554	C	T	101232554	3	4	4	1	0	0	0	0	1	0	0	0	14975	768	27	1	1629	1	SPAG1	8	101232554	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	67027	101232554	45131468	2163	4228											
RNF19A	25897	broad.mit.edu	37	chr8	101271043	101271043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgttaacagtagcaaagCgggtgtgataatcactggaa	12	5	1	1	rs34606154		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:101271043C>T	uc003yjj.1	-	10	2575	c.2258G>A	c.(2257-2259)cGc>cAc	p.R753H	RNF19A_uc003yjk.1_Missense_Mutation_p.R753H	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA.	753	Interaction with CASR.				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			AGTAGCAAAGCGGGTGTGATA	0.408													T	101271043	C	T	101271043	3	4	4	1	0	0	0	0	1	0	0	0	13470	768	27	1	262	1	RNF19A	8	101271043	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	38489	101271043	45092979	2164	4229											
RNF19A	25897	broad.mit.edu	37	chr8	101277003	101277003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacatccttgccttcatagCgattgtgaatcttgaattaa	6	8	2	2	rs138968684	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:101277003C>T	uc003yjj.1	-	6	1519	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	RNF19A_uc003yjk.1_Missense_Mutation_p.R401H	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA.	401					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GCCTTCATAGCGATTGTGAAT	0.373													T	101277003	C	T	101277003	3	4	4	1	0	0	0	0	1	0	0	0	13470	768	27	1	1334	1	RNF19A	8	101277003	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	5960	101277003	45087019	2165	4230											
NCALD	83988	broad.mit.edu	37	chr8	102731525	102731525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgatatagccatttccGtccaggtcgtacatgctgaa	9	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:102731525G>A	uc003yke.3	-	1	702	c.333C>T	c.(331-333)gaC>gaT	p.D111D	NCALD_uc003ykf.3_Silent_p.D111D|NCALD_uc003ykg.3_Silent_p.D111D|NCALD_uc003ykh.3_Silent_p.D111D|NCALD_uc003yki.3_Silent_p.D111D|NCALD_uc003ykj.3_Silent_p.D111D|NCALD_uc003ykk.3_Silent_p.D111D|NCALD_uc003ykl.3_Silent_p.D111D	NM_032041	NP_114430	P61601	NCALD_HUMAN	Homo sapiens neurocalcin delta (NCALD), transcript variant 8, mRNA.	111	EF-hand 3.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			AGCCATTTCCGTCCAGGTCGT	0.463													A	102731525	G	A	102731525	2	1	4	1	0	0	0	0	0	0	0	1	10201	1136	40	1		1	NCALD	8	102731525	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1454522	102731525	43632497	2166	4231											
NCALD	83988	broad.mit.edu	37	chr8	102731596	102731596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgaagttacactcaaggCgatgatgaattctctaaagt	8	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:102731596C>T	uc003yke.3	-	1	631	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	NCALD_uc003ykf.3_Missense_Mutation_p.A88T|NCALD_uc003ykg.3_Missense_Mutation_p.A88T|NCALD_uc003ykh.3_Missense_Mutation_p.A88T|NCALD_uc003yki.3_Missense_Mutation_p.A88T|NCALD_uc003ykj.3_Missense_Mutation_p.A88T|NCALD_uc003ykk.3_Missense_Mutation_p.A88T|NCALD_uc003ykl.3_Missense_Mutation_p.A88T	NM_032041	NP_114430	P61601	NCALD_HUMAN	Homo sapiens neurocalcin delta (NCALD), transcript variant 8, mRNA.	88	EF-hand 2.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			ACACTCAAGGCGATGATGAAT	0.478													T	102731596	C	T	102731596	3	4	4	1	0	0	0	0	1	0	0	0	10201	768	27	1	331	1	NCALD	8	102731596	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	71	102731596	43632426	2167	4232											
FZD6	8323	broad.mit.edu	37	chr8	104312465	104312465	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaacatgacgtttttccctAatctgatgggtcattatgac	7	9	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:104312465A>G	uc003ylh.3	+	1	420	c.130A>G	c.(130-132)Aat>Gat	p.N44D	FZD6_uc011lhn.2_Missense_Mutation_p.N12D|FZD6_uc003ylj.3_Missense_Mutation_p.N44D|FZD6_uc011lho.2_5'UTR|FZD6_uc011lhp.2_5'UTR	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	44	FZ.				G-protein signaling, coupled to cGMP nucleotide second messenger|angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GTTTTTCCCTAATCTGATGGG	0.418													G	104312465	A	G	104312465	3	3	4	1	0	0	0	0	1	0	0	0	6134	362	13	3	132	3	FZD6	8	104312465	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1580869	104312465	42051557	2168	4233											
FZD6	8323	broad.mit.edu	37	chr8	104340603	104340603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggaagcaaaaagacatgCacagaatgggctgggttttt	13	5	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:104340603C>T	uc003ylh.3	+	4	1790	c.1500C>T	c.(1498-1500)tgC>tgT	p.C500C	FZD6_uc011lhn.2_Silent_p.C468C|FZD6_uc003ylj.3_Silent_p.C500C|FZD6_uc011lho.2_Silent_p.C195C|FZD6_uc011lhp.2_Silent_p.C445C	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	500					G-protein signaling, coupled to cGMP nucleotide second messenger|angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AAAAGACATGCACAGAATGGG	0.353													T	104340603	C	T	104340603	2	4	4	1	0	0	0	0	0	0	0	1	6134	718	25	2		2	FZD6	8	104340603	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	28138	104340603	42023419	2169	4234											
CTHRC1	115908	broad.mit.edu	37	chr8	104390323	104390323	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtggctcacttcggctAaaatgcagaaatgcatgctg	10	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:104390323A>G	uc003ylk.3	+	2	540	c.441A>G	c.(439-441)ctA>ctG	p.L147L		NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	Homo sapiens collagen triple helix repeat containing 1 (CTHRC1), transcript variant 1, mRNA.	147						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			CACTTCGGCTAAAATGCAGAA	0.383													G	104390323	A	G	104390323	2	3	4	1	0	0	0	0	0	0	0	1	4010	349	13	3		3	CTHRC1	8	104390323	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	49720	104390323	41973699	2170	4235											
LRP12	29967	broad.mit.edu	37	chr8	105509882	105509882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtttaaagtcagtgaagcGtaaaatgactttacggtgat	10	4	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:105509882G>A	uc003yma.3	-	4	1025	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	LRP12_uc003ymb.3_Missense_Mutation_p.R281C|LRP12_uc003ylz.3_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	300	CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCAGTGAAGCGTAAAATGACT	0.378													A	105509882	G	A	105509882	3	1	4	1	0	0	0	0	1	0	0	0	8954	1145	40	1	1693	1	LRP12	8	105509882	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1119559	105509882	40854140	2171	4236											
ANGPT1	284	broad.mit.edu	37	chr8	108264151	108264151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgggccctttgaagtagtGccactttatcccattcagtt	8	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:108264151G>A	uc003ymn.3	-	8	1897	c.1429C>T	c.(1429-1431)Cac>Tac	p.H477Y	ANGPT1_uc011lhv.2_Missense_Mutation_p.H277Y|ANGPT1_uc003ymo.3_Missense_Mutation_p.H476Y	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	477	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTGAAGTAGTGCCACTTTATC	0.418													A	108264151	G	A	108264151	3	1	4	1	0	0	0	0	1	0	0	0	610	1319	46	2	71	2	ANGPT1	8	108264151	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2754269	108264151	38099871	2172	4237											
ANGPT1	284	broad.mit.edu	37	chr8	108296925	108296925	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacctatagttttgctttTcatttcctatgtggaatctg	6	8	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:108296925T>C	uc003ymn.3	-	6	1658	c.1190A>G	c.(1189-1191)gAa>gGa	p.E397G	ANGPT1_uc011lhv.2_Missense_Mutation_p.E197G|ANGPT1_uc003ymo.3_Missense_Mutation_p.E396G|ANGPT1_uc003ymp.4_Missense_Mutation_p.E196G	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	397	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GTTTTGCTTTTCATTTCCTAT	0.388													C	108296925	T	C	108296925	3	2	4	1	0	0	0	0	1	0	0	0	610	1783	62	3	318	3	ANGPT1	8	108296925	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	32774	108296925	38067097	2173	4238											
CSMD3	114788	broad.mit.edu	37	chr8	113293565	113293565	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attggctgtggttcctgggtTaccacactgcacagctataa	10	10	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:113293565T>A	uc003ynu.3	-	58	9505	c.9346A>T	c.(9346-9348)Aac>Tac	p.N3116Y	CSMD3_uc003yns.3_Missense_Mutation_p.N2318Y|CSMD3_uc003ynt.3_Missense_Mutation_p.N3076Y|CSMD3_uc011lhx.2_Missense_Mutation_p.N2947Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3116	Sushi 23.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTTCCTGGGTTACCACACTGC	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113293565	T	A	113293565	3	1	4	1	0	0	0	0	1	0	0	0	3946	1754	61	5	1829	5	CSMD3	8	113293565	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	4996640	113293565	33070457	2174	4239											
CSMD3	114788	broad.mit.edu	37	chr8	113966981	113966981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctagatttaaaatctatgGcctttttcactagttaagaa	5	7	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:113966981G>A	uc003ynu.3	-	7	1511	c.1352C>T	c.(1351-1353)gCc>gTc	p.A451V	CSMD3_uc003ynt.3_Missense_Mutation_p.A411V|CSMD3_uc011lhx.2_Missense_Mutation_p.A347V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	451						integral to membrane|plasma membrane		p.K450R(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAATCTATGGCCTTTTTCAC	0.289										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113966981	G	A	113966981	3	1	4	1	0	0	0	0	1	0	0	0	3946	1203	42	2	10027	2	CSMD3	8	113966981	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	673416	113966981	32397041	2175	4240											
TRPS1	7227	broad.mit.edu	37	chr8	116632282	116632282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggggttctttttccggaCcatatctgcaaagataaagg	12	7	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:116632282C>T	uc003yny.3	-	2	621	c.43G>A	c.(43-45)Gtc>Atc	p.V15I	TRPS1_uc011lhy.2_Missense_Mutation_p.V6I|TRPS1_uc003ynz.3_Missense_Mutation_p.V2I|TRPS1_uc010mcy.3_Missense_Mutation_p.V2I	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	2					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V15I(1)|p.V2I(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTTTCCGGACCATATCTGCA	0.408									Langer-Giedion syndrome				T	116632282	C	T	116632282	3	4	4	1	0	0	0	0	1	0	0	0	16590	507	18	4	3861	4	TRPS1	8	116632282	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2665301	116632282	29731740	2176	4241											
EIF3H	8667	broad.mit.edu	37	chr8	117669464	117669464	+	Frame_Shift_Del	DEL	A	A	-													aaacacttacgcttcaggggAaaaatccttttctttacaaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:117669463_117669463GA>G	uc003yob.3	-	5	1357	c.590_590TC>C	c.(589-591)tccfs	p.S197fs	EIF3H_uc003yoa.3_Frame_Shift_Del_p.S183fs	NM_003756	NP_003747	O15372	EIF3H_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit H (EIF3H), mRNA.	183					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					CGCTTCAGGGGAAAAATCCTT	0.413													-	117669464	A	-	117669464	7	5	4	1	0	1	0	1	0	0	0	0	5018	246	9	0	531	0	EIF3H	8	117669464	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	1037182	117669464	28694558	2177	4242											
COL14A1	7373	broad.mit.edu	37	chr8	121228677	121228677	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacccaacttcaagacagaTcaatggttatcgaattgtat	8	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:121228677T>C	uc003yox.3	+	13	1950	c.1685T>C	c.(1684-1686)aTc>aCc	p.I562T	COL14A1_uc003yoy.3_Missense_Mutation_p.I240T|COL14A1_uc010mde.1_Missense_Mutation_p.I240T	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	562	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCAAGACAGATCAATGGTTAT	0.408													C	121228677	T	C	121228677	3	2	4	1	0	0	0	0	1	0	0	0	3671	1435	50	3	1735	3	COL14A1	8	121228677	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	3559213	121228677	25135345	2178	4243											
COL14A1	7373	broad.mit.edu	37	chr8	121259909	121259909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatggtataaccggttgcGcattacgtgggaccccccat	12	11	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:121259909G>A	uc003yox.3	+	20	2802	c.2537G>A	c.(2536-2538)cGc>cAc	p.R846H	COL14A1_uc003yoy.3_Missense_Mutation_p.R524H	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	846	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.R846S(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AACCGGTTGCGCATTACGTGG	0.458													A	121259909	G	A	121259909	3	1	4	1	0	0	0	0	1	0	0	0	3671	1087	38	1	2615	1	COL14A1	8	121259909	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	31232	121259909	25104113	2179	4244											
HAS2	3037	broad.mit.edu	37	chr8	122641065	122641065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttggacaagaccaattgCgttacgtgttgcgagctttc	11	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:122641065C>T	uc003yph.2	-	1	1054	c.516G>A	c.(514-516)acG>acA	p.T172T		NM_005328	NP_005319	Q92819	HAS2_HUMAN	Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.	172						integral to plasma membrane	hyaluronan synthase activity	p.T172T(4)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AGACCAATTGCGTTACGTGTT	0.458													T	122641065	C	T	122641065	2	4	4	1	0	0	0	0	0	0	0	1	6962	755	27	1		1	HAS2	8	122641065	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1381156	122641065	23722957	2180	4245											
ZHX2	22882	broad.mit.edu	37	chr8	123964440	123964440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatcctctcgagactcggCggggtggagctcctccaaga	14	12	1	3	rs142739771		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:123964440C>T	uc022bag.1	+	0	690	c.690C>T	c.(688-690)ggC>ggT	p.G230G	ZHX2_uc003ypk.1_Silent_p.G230G	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	230	Required for homodimerization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGAGACTCGGCGGGGTGGAGC	0.577													T	123964440	C	T	123964440	2	4	4	1	0	0	0	0	0	0	0	1	17673	755	27	1		1	ZHX2	8	123964440	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1323375	123964440	22399582	2181	4246											
WDYHV1	55093	broad.mit.edu	37	chr8	124453601	124453601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcccaaggtaggatggggCgccgtctacacactatccga	12	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:124453601C>T	uc003yqn.1	+	5	689	c.564C>T	c.(562-564)ggC>ggT	p.G188G	WDYHV1_uc011lij.1_Silent_p.G128G	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN	Homo sapiens WDYHV motif containing 1 (WDYHV1), mRNA.	188					protein modification process	cytosol|nucleus	protein N-terminal glutamine amidohydrolase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						TAGGATGGGGCGCCGTCTACA	0.383													T	124453601	C	T	124453601	2	4	4	1	0	0	0	0	0	0	0	1	17340	755	27	1		1	WDYHV1	8	124453601	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	489161	124453601	21910421	2182	4247											
NDUFB9	4715	broad.mit.edu	37	chr8	125555399	125555399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagaatgaaaaggatatggCgaaggccacccagctgctga	12	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:125555399C>T	uc011lim.1	+	1	258	c.173C>T	c.(172-174)gCg>gTg	p.A58V	NDUFB9_uc003yrg.4_Missense_Mutation_p.A58V	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa (NDUFB9), nuclear gene encoding mitochondrial protein, mRNA.	58					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.M57I(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	AAGGATATGGCGAAGGCCACC	0.463													T	125555399	C	T	125555399	3	4	4	1	0	0	0	0	1	0	0	0	10288	768	27	1	179	1	NDUFB9	8	125555399	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1101798	125555399	20808623	2183	4248											
MTSS1	9788	broad.mit.edu	37	chr8	125565387	125565387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggcctggggagacagtgGcacttgggggttcccgttcc	16	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:125565387G>A	uc003yrl.2	-	14	2660	c.2126C>T	c.(2125-2127)gCc>gTc	p.A709V	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.A354V|MTSS1_uc011lin.1_Missense_Mutation_p.A479V|MTSS1_uc011lio.1_Missense_Mutation_p.A595V|MTSS1_uc003yri.2_Missense_Mutation_p.A423V|MTSS1_uc003yrj.2_Missense_Mutation_p.A680V|MTSS1_uc003yrk.2_Missense_Mutation_p.A705V	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	705	Pro-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGAGACAGTGGCACTTGGGGG	0.582													A	125565387	G	A	125565387	3	1	4	1	0	0	0	0	1	0	0	0	9962	1203	42	2	157	2	MTSS1	8	125565387	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	9988	125565387	20798635	2184	4249											
MTSS1	9788	broad.mit.edu	37	chr8	125568594	125568594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctcgcttctctttgcggCgctgcagggtgttcaccaga	12	12	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:125568594C>T	uc003yrl.2	-	12	1829	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_5'UTR|MTSS1_uc011lin.1_Missense_Mutation_p.R202H|MTSS1_uc011lio.1_Missense_Mutation_p.R318H|MTSS1_uc003yri.2_Splice_Site_p.R146_splice|MTSS1_uc003yrj.2_Missense_Mutation_p.R403H|MTSS1_uc003yrk.2_Missense_Mutation_p.R428H	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	428					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTCTTTGCGGCGCTGCAGGGT	0.647													T	125568594	C	T	125568594	3	4	4	1	0	0	0	0	1	0	0	0	9962	768	27	1	996	1	MTSS1	8	125568594	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3207	125568594	20795428	2185	4250											
SQLE	6713	broad.mit.edu	37	chr8	126021249	126021249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactgttgttgcagatgggCttttctccaagttcaggaaa	11	7	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:126021249C>T	uc011liq.2	+	4	1785	c.859C>T	c.(859-861)Ctt>Ttt	p.L287F		NM_003129	NP_003120	Q14534	ERG1_HUMAN	Homo sapiens squalene epoxidase (SQLE), mRNA.	287					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TGCAGATGGGCTTTTCTCCAA	0.388													T	126021249	C	T	126021249	3	4	4	1	0	0	0	0	1	0	0	0	15127	797	28	2	776	2	SQLE	8	126021249	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	452655	126021249	20342773	2186	4251											
KIAA0196	9897	broad.mit.edu	37	chr8	126040911	126040911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcctccaggaacagaaggGcacccacaacatctgcagga	9	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:126040911G>A	uc003yrt.3	-	27	3703	c.3374C>T	c.(3373-3375)gCc>gTc	p.A1125V	KIAA0196_uc011lir.2_Missense_Mutation_p.A977V	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	1125					cell death	WASH complex		p.G1124C(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GAACAGAAGGGCACCCACAAC	0.398													A	126040911	G	A	126040911	3	1	4	1	0	0	0	0	1	0	0	0	8161	1203	42	2	113	2	KIAA0196	8	126040911	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	19662	126040911	20323111	2187	4252											
KIAA0196	9897	broad.mit.edu	37	chr8	126056869	126056869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggatttctgagaagaggCggctgctggtcacttcctga	13	9	3	3	rs142078144	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:126056869C>T	uc003yrt.3	-	20	2905	c.2576G>A	c.(2575-2577)cGc>cAc	p.R859H	KIAA0196_uc011lir.2_Missense_Mutation_p.R711H	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	859					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TGAGAAGAGGCGGCTGCTGGT	0.428													T	126056869	C	T	126056869	3	4	4	1	0	0	0	0	1	0	0	0	8161	768	27	1	939	1	KIAA0196	8	126056869	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	15958	126056869	20307153	2188	4253											
KIAA0196	9897	broad.mit.edu	37	chr8	126094634	126094634	+	Frame_Shift_Del	DEL	T	T	-													ttattacttactagaagttgTtttccatcttcattgagaag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:126094633_126094633GT>G	uc003yrt.3	-	3	738	c.409_409AC>C	c.(409-411)caafs	p.Q137fs	KIAA0196_uc011lir.2_5'UTR	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	137					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ACTAGAAGTTGTTTTCCATCT	0.279													-	126094634	T	-	126094634	7	5	4	1	0	1	0	1	0	0	0	0	8161	1722	60	0	3175	0	KIAA0196	8	126094634	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	37765	126094634	20269388	2189	4254											
ASAP1	50807	broad.mit.edu	37	chr8	131070228	131070228	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcctcttcccctgtgAcgataatcacttctccctcg	6	17	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:131070228A>G	uc003yta.2	-	28	3515	c.3287T>C	c.(3286-3288)gTc>gCc	p.V1096A	ASAP1_uc003ysz.2_Missense_Mutation_p.V907A|ASAP1_uc011liw.2_Missense_Mutation_p.V1089A	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	1096	SH3.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding	p.V1096I(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTCCCCTGTGACGATAATCAC	0.498													G	131070228	A	G	131070228	3	3	4	1	0	0	0	0	1	0	0	0	1010	275	10	3	110	3	ASAP1	8	131070228	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	4975594	131070228	15293794	2190	4255											
ASAP1	50807	broad.mit.edu	37	chr8	131092151	131092151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgctgagatggcttacctcGactgctgggatagtccctca	12	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:131092151G>A	uc003yta.2	-	25	2867	c.2639C>T	c.(2638-2640)tCg>tTg	p.S880L	ASAP1_uc003ysz.2_Missense_Mutation_p.S691L|ASAP1_uc011liw.2_Missense_Mutation_p.S873L	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	880	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GGCTTACCTCGACTGCTGGGA	0.453													A	131092151	G	A	131092151	3	1	4	1	0	0	0	0	1	0	0	0	1010	1059	37	1	770	1	ASAP1	8	131092151	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	21923	131092151	15271871	2191	4256											
ASAP1	50807	broad.mit.edu	37	chr8	131104379	131104379	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggagtgttgaaggtggGccagttggacctagaaagga	18	4	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:131104379G>A	uc003yta.2	-	24	2640	c.2412C>T	c.(2410-2412)ggC>ggT	p.G804G	ASAP1_uc003ysz.2_Silent_p.G615G|ASAP1_uc011liw.2_Silent_p.G797G	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	804	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTGAAGGTGGGCCAGTTGGAC	0.517													A	131104379	G	A	131104379	2	1	4	1	0	0	0	0	0	0	0	1	1010	1190	42	2		2	ASAP1	8	131104379	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	12228	131104379	15259643	2192	4257											
EFR3A	23167	broad.mit.edu	37	chr8	133014887	133014887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacaggaaaaggaaaagagGcgtcttgtgatagagaaatt	13	3	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:133014887G>A	uc003yte.3	+	20	2448	c.2244G>A	c.(2242-2244)agG>agA	p.R748R		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	748						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AGGAAAAGAGGCGTCTTGTGA	0.378													A	133014887	G	A	133014887	2	1	4	1	0	0	0	0	0	0	0	1	4958	1194	42	2		2	EFR3A	8	133014887	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1910508	133014887	13349135	2193	4258											
PHF20L1	51105	broad.mit.edu	37	chr8	133806768	133806768	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgggatagcaatagattgCgaccccttgagagaccagca	11	10	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:133806768C>T	uc003ytt.3	+	2	521	c.196C>T	c.(196-198)Cga>Tga	p.R66*	PHF20L1_uc003ytr.3_Nonsense_Mutation_p.R66*|PHF20L1_uc010mdv.3_Nonsense_Mutation_p.R66*|PHF20L1_uc003yts.3_Nonsense_Mutation_p.R66*|PHF20L1_uc011lja.2_Nonsense_Mutation_p.R66*|PHF20L1_uc003ytu.1_Non-coding_Transcript	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	66	Tudor 1.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CAATAGATTGCGACCCCTTGA	0.403													T	133806768	C	T	133806768	4	4	4	1	0	0	0	0	0	1	0	0	11832	760	27	1	202	1	PHF20L1	8	133806768	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	791881	133806768	12557254	2194	4259											
PHF20L1	51105	broad.mit.edu	37	chr8	133829268	133829268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctctccagccactgatgGgaaagtattctccatcagtt	7	13	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:133829268G>A	uc003ytt.3	+	10	1644	c.1319G>A	c.(1318-1320)gGg>gAg	p.G440E	PHF20L1_uc003yts.3_Missense_Mutation_p.G440E|PHF20L1_uc011lja.2_Missense_Mutation_p.G414E|PHF20L1_uc003ytu.1_Intron	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	440							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCCACTGATGGGAAAGTATTC	0.403													A	133829268	G	A	133829268	3	1	4	1	0	0	0	0	1	0	0	0	11832	1232	43	4	1363	4	PHF20L1	8	133829268	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	22500	133829268	12534754	2195	4260											
PHF20L1	51105	broad.mit.edu	37	chr8	133848857	133848857	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtggggatgaatacaatcAggactttgattcaaccaatt	10	6	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:133848857A>G	uc003ytt.3	+	15	2307	c.1982A>G	c.(1981-1983)cAg>cGg	p.Q661R	PHF20L1_uc011lja.2_Missense_Mutation_p.Q635R	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	661							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GAATACAATCAGGACTTTGAT	0.373													G	133848857	A	G	133848857	3	3	4	1	0	0	0	0	1	0	0	0	11832	188	7	3	2136	3	PHF20L1	8	133848857	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	19589	133848857	12515165	2196	4261											
TG	7038	broad.mit.edu	37	chr8	133898950	133898950	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttctcaaagaagccatcCgagcaatttttccctcccga	5	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:133898950C>T	uc003ytw.3	+	8	1374	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	445					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGAAGCCATCCGAGCAATTTT	0.498													T	133898950	C	T	133898950	4	4	4	1	0	0	0	0	0	1	0	0	15810	644	23	1	1367	1	TG	8	133898950	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	50093	133898950	12465072	2197	4262											
TG	7038	broad.mit.edu	37	chr8	133931753	133931753	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacgaccatttctgctggagCtttcagccagactcactgta	8	12	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:133931753C>A	uc003ytw.3	+	20	4552	c.4511C>A	c.(4510-4512)gCt>gAt	p.A1504D	TG_uc010mdw.3_Missense_Mutation_p.A263D|TG_uc011ljb.2_5'UTR|TG_uc003ytx.1_Non-coding_Transcript	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1504					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCTGCTGGAGCTTTCAGCCAG	0.488													A	133931753	C	A	133931753	3	1	4	1	0	0	0	0	1	0	0	0	15810	797	28	5	4593	5	TG	8	133931753	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	32803	133931753	12432269	2198	4263											
TG	7038	broad.mit.edu	37	chr8	133961096	133961096	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agactggatggatccctctgAagcctgggctaatgctacat	11	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:133961096A>G	uc003ytw.3	+	26	5350	c.5309A>G	c.(5308-5310)gAa>gGa	p.E1770G	TG_uc010mdw.3_Missense_Mutation_p.E529G|TG_uc011ljb.2_Missense_Mutation_p.E139G	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1770					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GATCCCTCTGAAGCCTGGGCT	0.502													G	133961096	A	G	133961096	3	3	4	1	0	0	0	0	1	0	0	0	15810	246	9	3	5415	3	TG	8	133961096	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	29343	133961096	12402926	2199	4264											
WISP1	8840	broad.mit.edu	37	chr8	134232921	134232921	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgcacgtgcatcgacggCgcggtgggctgcacaccact	13	14	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:134232921C>T	uc003yub.3	+	2	553	c.447C>T	c.(445-447)ggC>ggT	p.G149G	WISP1_uc003yuc.3_Intron|WISP1_uc010meb.3_Intron|WISP1_uc010mec.3_Intron|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	149	VWFC.				Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding	p.D148E(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GCATCGACGGCGCGGTGGGCT	0.667													T	134232921	C	T	134232921	2	4	4	1	0	0	0	0	0	0	0	1	17369	755	27	1		1	WISP1	8	134232921	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	271825	134232921	12131101	2200	4265											
WISP1	8840	broad.mit.edu	37	chr8	134237815	134237815	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgcgatgtggacatccatAcactcattaaggtgggtcca	10	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:134237815A>G	uc003yub.3	+	3	899	c.793A>G	c.(793-795)Aca>Gca	p.T265A	WISP1_uc003yuc.3_Missense_Mutation_p.T178A|WISP1_uc010meb.3_Missense_Mutation_p.T93A|WISP1_uc010mec.3_Intron|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	265					Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GGACATCCATACACTCATTAA	0.557													G	134237815	A	G	134237815	3	3	4	1	0	0	0	0	1	0	0	0	17369	391	14	3	807	3	WISP1	8	134237815	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	4894	134237815	12126207	2201	4266											
NDRG1	10397	broad.mit.edu	37	chr8	134276800	134276800	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagaacttacggttcatgccGatgtcatggtaggtgaggat	13	7	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:134276800G>T	uc003yuh.2	-	3	781	c.195C>A	c.(193-195)atC>atA	p.I65I	NDRG1_uc003yug.2_Silent_p.I65I|NDRG1_uc010mee.2_Intron|NDRG1_uc010mef.2_5'UTR|NDRG1_uc011ljh.1_5'UTR|NDRG1_uc011lji.1_Intron	NM_001135242	NP_006087	Q92597	NDRG1_HUMAN	Homo sapiens N-myc downstream regulated 1 (NDRG1), transcript variant 1, mRNA.	65					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding	p.I65S(1)	NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GGTTCATGCCGATGTCATGGT	0.572			T	ERG	prostate								T	134276800	G	T	134276800	2	4	4	1	0	0	0	0	0	0	0	1	10251	1048	37	5		5	NDRG1	8	134276800	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	38985	134276800	12087222	2202	4267											
ZFAT	57623	broad.mit.edu	37	chr8	135524778	135524778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgcctgtgtcccttgaaCgtcttcttcggcctctgtga	10	14	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:135524778C>T	uc003yup.3	-	13	3487	c.3301G>A	c.(3301-3303)Gtt>Att	p.V1101I	ZFAT_uc011ljj.2_Missense_Mutation_p.V220I|ZFAT_uc003yun.3_Missense_Mutation_p.V1089I|ZFAT_uc003yuo.3_Missense_Mutation_p.V1089I|ZFAT_uc010meh.3_Intron|ZFAT_uc010mej.3_Missense_Mutation_p.V1039I|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.V1089I	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	1101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTCCCTTGAACGTCTTCTTCG	0.532													T	135524778	C	T	135524778	3	4	4	1	0	0	0	0	1	0	0	0	17629	536	19	1	442	1	ZFAT	8	135524778	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1247978	135524778	10839244	2203	4268											
ZFAT	57623	broad.mit.edu	37	chr8	135614866	135614866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttgatgaggttcttgaCgtcagagtacttcttcttgc	11	8	4	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:135614866C>T	uc003yup.3	-	5	1282	c.1096G>A	c.(1096-1098)Gtc>Atc	p.V366I	ZFAT_uc003yun.3_Missense_Mutation_p.V354I|ZFAT_uc003yuo.3_Missense_Mutation_p.V354I|ZFAT_uc010meh.3_Missense_Mutation_p.V354I|ZFAT_uc010mej.3_Missense_Mutation_p.V304I|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.V354I|ZFAT_uc003yur.3_Missense_Mutation_p.V354I	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGGTTCTTGACGTCAGAGTAC	0.557													T	135614866	C	T	135614866	3	4	4	1	0	0	0	0	1	0	0	0	17629	536	19	1	2679	1	ZFAT	8	135614866	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	90088	135614866	10749156	2204	4269											
COL22A1	169044	broad.mit.edu	37	chr8	139668154	139668154	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttaccttagccaagagatTtatgtcccctggagacagta	8	9	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:139668154T>C	uc003yvd.3	-	44	3766	c.3319A>G	c.(3319-3321)Aat>Gat	p.N1107D	COL22A1_uc011ljo.2_Missense_Mutation_p.N387D	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1107	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCAAGAGATTTATGTCCCCT	0.378										HNSCC(7;0.00092)			C	139668154	T	C	139668154	3	2	4	1	0	0	0	0	1	0	0	0	3681	1841	64	3	1645	3	COL22A1	8	139668154	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	4053288	139668154	6695868	2205	4270											
COL22A1	169044	broad.mit.edu	37	chr8	139696666	139696666	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttttcttggacaagcactcAccttggttcctaggggtcca	10	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:139696666A>G	uc003yvd.3	-	39	3459	c.3012_splice	c.e39+1	p.K1004_splice	COL22A1_uc011ljo.2_Splice_Site_p.K304_splice	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1004	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACAAGCACTCACCTTGGTTCC	0.483										HNSCC(7;0.00092)			G	139696666	A	G	139696666	5	3	4	1	0	0	0	0	0	0	1	0	3681	173	6	3	1974	3	COL22A1	8	139696666	Splice_Site	SNP	A	TCGA-BR-4184-01A-01D-1126-08	28512	139696666	6667356	2206	4271											
COL22A1	169044	broad.mit.edu	37	chr8	139833507	139833507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagggagacgttctgggCctggatgctcagggccatct	16	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:139833507C>T	uc003yvd.3	-	6	1564	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	373	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACGTTCTGGGCCTGGATGCTC	0.562										HNSCC(7;0.00092)			T	139833507	C	T	139833507	3	4	4	1	0	0	0	0	1	0	0	0	3681	739	26	2	3999	2	COL22A1	8	139833507	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	136841	139833507	6530515	2207	4272											
TRAPPC9	83696	broad.mit.edu	37	chr8	141321405	141321405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaggccgccagggagggCgatgggctccatggtcccag	19	11	0	1	rs148453804	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:141321405C>T	uc003yvh.2	-	9	1873	c.1858G>A	c.(1858-1860)Gcc>Acc	p.A620T	TRAPPC9_uc003yvj.2_Missense_Mutation_p.A522T|TRAPPC9_uc003yvi.1_Missense_Mutation_p.A513T	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	522					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCAGGGAGGGCGATGGGCTCC	0.552													T	141321405	C	T	141321405	3	4	4	1	0	0	0	0	1	0	0	0	16462	768	27	1	1938	1	TRAPPC9	8	141321405	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1487898	141321405	5042617	2208	4273											
EIF2C2	27161	broad.mit.edu	37	chr8	141570572	141570572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagagggttagagcagccttCggacgcggtgaagaaggagc	17	7	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:141570572C>T	uc003yvn.3	-	4	597	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	EIF2C2_uc010meo.3_Missense_Mutation_p.E186K|EIF2C2_uc010men.3_Missense_Mutation_p.E109K	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	186					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			GAGCAGCCTTCGGACGCGGTG	0.597													T	141570572	C	T	141570572	3	4	4	1	0	0	0	0	1	0	0	0	5006	893	31	1	2083	1	EIF2C2	8	141570572	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	249167	141570572	4793450	2209	4274											
DENND3	22898	broad.mit.edu	37	chr8	142151331	142151331	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttctacaatggcaaaacGcaccgggagtgtcctggctg	12	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:142151331G>A	uc003yvy.3	+	3	569	c.291G>A	c.(289-291)acG>acA	p.T97T	DENND3_uc003yvw.1_Silent_p.T110T|DENND3_uc003yvx.3_Missense_Mutation_p.R176H|DENND3_uc010mep.3_Silent_p.T110T	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	97										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGGCAAAACGCACCGGGAGT	0.532													A	142151331	G	A	142151331	2	1	4	1	0	0	0	0	0	0	0	1	4432	1074	38	1		1	DENND3	8	142151331	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	580759	142151331	4212691	2210	4275											
PTP4A3	11156	broad.mit.edu	37	chr8	142432393	142432393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgagctacaaacacatgcGcttcctcatcacccacaacc	6	16	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:142432393G>A	uc003ywg.1	+	0	387	c.53G>A	c.(52-54)cGc>cAc	p.R18H	PTP4A3_uc003ywh.1_Missense_Mutation_p.R18H|PTP4A3_uc010met.1_Missense_Mutation_p.R18H	NM_032611	NP_116000	O75365	TP4A3_HUMAN	Homo sapiens protein tyrosine phosphatase type IVA, member 3 (PTP4A3), transcript variant 1, mRNA.	18						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R18L(2)		endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			AAACACATGCGCTTCCTCATC	0.657													A	142432393	G	A	142432393	3	1	4	1	0	0	0	0	1	0	0	0	12772	1087	38	1	55	1	PTP4A3	8	142432393	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	281062	142432393	3931629	2211	4276											
TSNARE1	203062	broad.mit.edu	37	chr8	143396392	143396392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactccatagcactgaatgGcatctgagagctgggttttc	10	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:143396392G>A	uc003ywj.3	-	6	1085	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V	TSNARE1_uc011lju.2_Missense_Mutation_p.A348V|TSNARE1_uc003ywk.3_Missense_Mutation_p.A349V|TSNARE1_uc003ywl.4_Missense_Mutation_p.A129V	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	349					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCACTGAATGGCATCTGAGAG	0.637													A	143396392	G	A	143396392	3	1	4	1	0	0	0	0	1	0	0	0	16627	1203	42	2	519	2	TSNARE1	8	143396392	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	963999	143396392	2967630	2212	4277											
GLI4	2738	broad.mit.edu	37	chr8	144358659	144358659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctacaagtgcggcgagtgCggccaggccttcagccagag	14	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:144358659C>T	uc003yxx.3	+	3	901	c.816C>T	c.(814-816)tgC>tgT	p.C272C	ZFP41_uc003yxv.3_Non-coding_Transcript	NM_138465	NP_612474	P10075	GLI4_HUMAN	Homo sapiens GLI family zinc finger 4 (GLI4), mRNA.	272						nucleus	DNA binding|zinc ion binding	p.E271K(1)		endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCGGCGAGTGCGGCCAGGCCT	0.672													T	144358659	C	T	144358659	2	4	4	1	0	0	0	0	0	0	0	1	6440	776	27	1		1	GLI4	8	144358659	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	962267	144358659	2005363	2213	4278											
EEF1D	1936	broad.mit.edu	37	chr8	144663239	144663239	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacctgggtctgtggggcCgtggcccggtggccaggcga	18	12	2	0	rs138645618		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:144663239C>T	uc003yyq.2	-	4	1852	c.1623G>A	c.(1621-1623)acG>acA	p.T541T	NAPRT1_uc003yym.4_5'Flank|NAPRT1_uc003yyn.4_5'Flank|NAPRT1_uc011lkh.2_5'Flank|NAPRT1_uc003yyo.4_5'Flank|EEF1D_uc003yyp.2_Silent_p.T467T|EEF1D_uc011lki.2_Silent_p.T125T|EEF1D_uc003yyv.3_Silent_p.T101T|EEF1D_uc003yyu.3_Silent_p.T125T|EEF1D_uc011lkk.2_Silent_p.T125T|EEF1D_uc003yyt.3_Silent_p.T491T|EEF1D_uc003yyr.3_Silent_p.T491T|EEF1D_uc003yys.3_Silent_p.T125T|EEF1D_uc011lkl.2_Silent_p.T106T	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	125					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TCTGTGGGGCCGTGGCCCGGT	0.697													T	144663239	C	T	144663239	2	4	4	1	0	0	0	0	0	0	0	1	4926	639	23	1		1	EEF1D	8	144663239	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	304580	144663239	1700783	2214	4279											
EPPK1	83481	broad.mit.edu	37	chr8	144945091	144945091	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctccagaagctgcaggtaCgtgaggttctcgtgcgtgtt	14	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:144945091C>T	uc003zaa.1	-	0	2344	c.2331G>A	c.(2329-2331)acG>acA	p.T777T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	777						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTGCAGGTACGTGAGGTTCT	0.622													T	144945091	C	T	144945091	2	4	4	1	0	0	0	0	0	0	0	1	5190	523	19	1		1	EPPK1	8	144945091	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	281852	144945091	1418931	2215	4280											
KIFC2	90990	broad.mit.edu	37	chr8	145692709	145692709	+	Frame_Shift_Del	DEL	C	C	-													agccagcccctcgggtccggCccccctctccagatggtgag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:145692708_145692708GC>G	uc003zcz.3	+	3	518	c.453_453GC>G	c.(451-453)cggfs	p.R151fs	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	Homo sapiens kinesin family member C2 (KIFC2), mRNA.	151					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTCGGGTCCGGCCCCCCTCTC	0.622											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	145692709	C	-	145692709	7	5	4	1	0	1	0	1	0	0	0	0	8313	739	26	0	468	0	KIFC2	8	145692709	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	747618	145692709	671313	2216	4281											
RECQL4	9401	broad.mit.edu	37	chr8	145739054	145739054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagtaaatgataatggaatCgaggttttgaaaacgtttgc	11	4	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:145739054C>T	uc003zdj.3	-	12	2143	c.2101G>A	c.(2101-2103)Gat>Aat	p.D701N		NM_004260	NP_004251	O94761	RECQ4_HUMAN	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.	701	Helicase C-terminal.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|bubble DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ATAATGGAATCGAGGTTTTGA	0.612			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				T	145739054	C	T	145739054	3	4	4	1	0	0	0	0	1	0	0	0	13202	884	31	1	1562	1	RECQL4	8	145739054	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	46345	145739054	624968	2217	4282											
ARHGAP39	80728	broad.mit.edu	37	chr8	145770858	145770858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggccacctccagggccaCgtgcagtgggtcggccttgg	17	13	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:145770858C>T	uc003zds.1	-	6	2851	c.2296G>A	c.(2296-2298)Gtg>Atg	p.V766M	ARHGAP39_uc011llk.1_Missense_Mutation_p.V766M|ARHGAP39_uc003zdt.1_Missense_Mutation_p.V766M	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	766	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TCCAGGGCCACGTGCAGTGGG	0.657													T	145770858	C	T	145770858	3	4	4	1	0	0	0	0	1	0	0	0	884	536	19	1	1076	1	ARHGAP39	8	145770858	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	31804	145770858	593164	2218	4283											
DOCK8	81704	broad.mit.edu	37	chr9	418150	418150	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attaaccagaatgtggctctGgccatagcagggaataattt	10	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:418150G>T	uc003zgf.2	+	29	3895	c.3783G>T	c.(3781-3783)ctG>ctT	p.L1261L	DOCK8_uc022bcu.1_Silent_p.L1193L|DOCK8_uc010mgv.3_Silent_p.L1161L|DOCK8_uc010mgu.3_Silent_p.L563L|DOCK8_uc003zgk.2_Silent_p.L719L	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1261					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATGTGGCTCTGGCCATAGCAG	0.443													T	418150	G	T	418150	2	4	4	1	0	0	0	0	0	0	0	1	4693	1335	47	5		5	DOCK8	9	418150	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08		418150	140795281	2219	4284											
SMARCA2	6595	broad.mit.edu	37	chr9	2058432	2058432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagaagaaggagacagagCggattgaaaaggagagaatg	16	3	0	6			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:2058432C>T	uc003zhc.3	+	7	1588	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	SMARCA2_uc003zhd.3_Missense_Mutation_p.R497W|SMARCA2_uc010mha.3_Missense_Mutation_p.R488W	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	497	HSA.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GGAGACAGAGCGGATTGAAAA	0.512													T	2058432	C	T	2058432	3	4	4	1	0	0	0	0	1	0	0	0	14769	759	27	1	1515	1	SMARCA2	9	2058432	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1640282	2058432	139154999	2220	4285											
SMARCA2	6595	broad.mit.edu	37	chr9	2115922	2115922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggaggaaaagatcctcgCggccgcaaaatacaagctga	12	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:2115922C>T	uc003zhc.3	+	24	3656	c.3557C>T	c.(3556-3558)gCg>gTg	p.A1186V	SMARCA2_uc003zhd.3_Missense_Mutation_p.A1186V|SMARCA2_uc010mha.3_Missense_Mutation_p.A1119V	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	1186	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AAGATCCTCGCGGCCGCAAAA	0.582													T	2115922	C	T	2115922	3	4	4	1	0	0	0	0	1	0	0	0	14769	768	27	1	3651	1	SMARCA2	9	2115922	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	57490	2115922	139097509	2221	4286											
KCNV2	169522	broad.mit.edu	37	chr9	2719001	2719001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctcttcatcgccatggGcatcttcactttctctgcgg	9	14	5	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:2719001G>A	uc003zho.2	+	0	1476	c.1262G>A	c.(1261-1263)gGc>gAc	p.G421D		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	421						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		ATCGCCATGGGCATCTTCACT	0.632													A	2719001	G	A	2719001	3	1	4	1	0	0	0	0	1	0	0	0	8095	1203	42	2	1264	2	KCNV2	9	2719001	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	603079	2719001	138494430	2222	4287											
KIAA0020	9933	broad.mit.edu	37	chr9	2811408	2811408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgttgctgccaagctggCgatggcattcatggtaggct	13	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:2811408C>T	uc003zhp.1	-	14	1684	c.1588G>A	c.(1588-1590)Gcc>Acc	p.A530T	KIAA0020_uc003zhq.1_Missense_Mutation_p.A529T	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	530						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		GCCAAGCTGGCGATGGCATTC	0.527													T	2811408	C	T	2811408	3	4	4	1	0	0	0	0	1	0	0	0	8152	768	27	1	374	1	KIAA0020	9	2811408	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	92407	2811408	138402023	2223	4288											
KIAA0020	9933	broad.mit.edu	37	chr9	2824797	2824797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtagaccaccgcttcgcGgatggcttcaatcatttcct	9	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:2824797G>A	uc003zhp.1	-	10	1150	c.1054C>T	c.(1054-1056)Cgc>Tgc	p.R352C	KIAA0020_uc003zhq.1_Missense_Mutation_p.R351C	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	352	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		ACCGCTTCGCGGATGGCTTCA	0.527													A	2824797	G	A	2824797	3	1	4	1	0	0	0	0	1	0	0	0	8152	1116	39	1	924	1	KIAA0020	9	2824797	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	13389	2824797	138388634	2224	4289											
KIAA0020	9933	broad.mit.edu	37	chr9	2829854	2829854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggctttgtcattgtatgCgtactccacgatggctgatg	11	8	1	1	rs62534389		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:2829854C>T	uc003zhp.1	-	7	868	c.772G>A	c.(772-774)Gca>Aca	p.A258T	KIAA0020_uc003zhq.1_Missense_Mutation_p.A257T	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	258	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TCATTGTATGCGTACTCCACG	0.458													T	2829854	C	T	2829854	3	4	4	1	0	0	0	0	1	0	0	0	8152	768	27	1	1218	1	KIAA0020	9	2829854	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	5057	2829854	138383577	2225	4290											
AK3	50808	broad.mit.edu	37	chr9	4718478	4718478	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctttagtctcttgataacCgtctctggtttatcatcctc	6	12	3	1	rs141049546		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:4718478C>T	uc003ziq.2	-	3	726	c.504G>A	c.(502-504)acG>acA	p.T168T	AK3_uc022bcz.1_Silent_p.T98T|AK3_uc011lma.2_Silent_p.T128T|AK3_uc022bda.1_Silent_p.T98T|AK3_uc003zir.2_Silent_p.T98T	NM_016282	NP_001186785	Q9UIJ7	KAD3_HUMAN	Homo sapiens adenylate kinase 3 (AK3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	168					blood coagulation	mitochondrial matrix	ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity			large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)		TCTTGATAACCGTCTCTGGTT	0.423													T	4718478	C	T	4718478	2	4	4	1	0	0	0	0	0	0	0	1	441	639	23	1		1	AK3	9	4718478	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1888624	4718478	136494953	2226	4291											
RCL1	10171	broad.mit.edu	37	chr9	4844593	4844593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctcagtgctgaactggCctccaacccccagggccagg	10	17	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:4844593C>T	uc003zis.2	+	6	1037	c.779C>T	c.(778-780)gCc>gTc	p.A260V	RCL1_uc010mhl.1_Missense_Mutation_p.A74V	NM_005772	NP_005763	Q9Y2P8	RCL1_HUMAN	Homo sapiens RNA terminal phosphate cyclase-like 1 (RCL1), mRNA.	260					RNA processing|ribosome biogenesis	nucleolus	RNA-3'-phosphate cyclase activity			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		GCTGAACTGGCCTCCAACCCC	0.582													T	4844593	C	T	4844593	3	4	4	1	0	0	0	0	1	0	0	0	13178	739	26	2	805	2	RCL1	9	4844593	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	126115	4844593	136368838	2227	4292											
KIAA2026	158358	broad.mit.edu	37	chr9	5922824	5922824	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catttgtaaaggaccttttgTattggtgtggcaggtcaatg	12	5	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:5922824T>C	uc003zjq.4	-	7	3388	c.3172A>G	c.(3172-3174)Aca>Gca	p.T1058A	KIAA2026_uc010mht.3_Missense_Mutation_p.T233A	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	1058										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GGACCTTTTGTATTGGTGTGG	0.458													C	5922824	T	C	5922824	3	2	4	1	0	0	0	0	1	0	0	0	8270	1638	57	3	3143	3	KIAA2026	9	5922824	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1078231	5922824	135290607	2228	4293											
UHRF2	115426	broad.mit.edu	37	chr9	6504628	6504628	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggaacaatcttttatgtgCgtttgctgtcaggagctagt	11	6	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:6504628C>T	uc003zjy.3	+	14	2539	c.2199C>T	c.(2197-2199)tgC>tgT	p.C733C	UHRF2_uc003zjz.3_Non-coding_Transcript|UHRF2_uc003zkb.3_Non-coding_Transcript	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	Homo sapiens ubiquitin-like with PHD and ring finger domains 2 (UHRF2), mRNA.	733					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	p.M732I(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		CTTTTATGTGCGTTTGCTGTC	0.358													T	6504628	C	T	6504628	2	4	4	1	0	0	0	0	0	0	0	1	16967	776	27	1		1	UHRF2	9	6504628	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	581804	6504628	134708803	2229	4294											
NFIB	4781	broad.mit.edu	37	chr9	14150263	14150263	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagttccctgggttatgggCgctgaggaataagacaaaga	13	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:14150263C>T	uc022bdo.1	-	5	1221	c.686_splice	c.e5-1	p.T229_splice	NFIB_uc003zld.3_Splice_Site|NFIB_uc003zlf.3_Splice_Site_p.T229_splice|NFIB_uc003zle.3_Splice_Site_p.T229_splice|NFIB_uc022bdp.1_Splice_Site_p.T255_splice|NFIB_uc011lmo.2_Splice_Site_p.T229_splice	NM_001190737	NP_001177666	O00712	NFIB_HUMAN	Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.	229					Clara cell differentiation|DNA replication|Type I pneumocyte differentiation|Type II pneumocyte differentiation|anterior commissure morphogenesis|chondrocyte differentiation|commissural neuron axon guidance|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GGGTTATGGGCGCTGAGGAAT	0.438			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"								T	14150263	C	T	14150263	5	4	4	1	0	0	0	0	0	0	1	0	10371	782	27	1	595	1	NFIB	9	14150263	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	7645635	14150263	127063168	2230	4295											
FREM1	158326	broad.mit.edu	37	chr9	14775838	14775838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctcccattcacaataaaGccttggtttgtcccatctgt	5	13	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:14775838G>A	uc003zlm.3	-	25	5622	c.4806C>T	c.(4804-4806)ggC>ggT	p.G1602G	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_5'Flank|FREM1_uc003zll.3_Silent_p.G138G	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1602					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCACAATAAAGCCTTGGTTTG	0.468													A	14775838	G	A	14775838	2	1	4	1	0	0	0	0	0	0	0	1	6044	958	34	2		2	FREM1	9	14775838	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	625575	14775838	126437593	2231	4296											
PSIP1	11168	broad.mit.edu	37	chr9	15472661	15472661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttgttcctcttgcttgcGttttcgatctgctgcttctt	7	11	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:15472661G>A	uc003zlv.4	-	9	1276	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	PSIP1_uc003zlw.4_Missense_Mutation_p.R316C|PSIP1_uc003zlz.4_Missense_Mutation_p.R316C|PSIP1_uc003zma.4_Missense_Mutation_p.R307C|PSIP1_uc003zly.3_Missense_Mutation_p.R316C	NM_033222	NP_150091	O75475	PSIP1_HUMAN	Homo sapiens PC4 and SFRS1 interacting protein 1 (PSIP1), transcript variant 2, mRNA.	316					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	DNA secondary structure binding|RNA polymerase II transcription coactivator activity|activating transcription factor binding|chromatin binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TCTTGCTTGCGTTTTCGATCT	0.358													A	15472661	G	A	15472661	3	1	4	1	0	0	0	0	1	0	0	0	12663	1145	40	1	703	1	PSIP1	9	15472661	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	696823	15472661	125740770	2232	4297											
BNC2	54796	broad.mit.edu	37	chr9	16552745	16552745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggtggtacaggtgctgcGtgctgagcttatccaaggct	16	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:16552745G>A	uc003zml.3	-	4	592	c.452C>T	c.(451-453)aCg>aTg	p.T151M	BNC2_uc011lmw.2_Missense_Mutation_p.T56M|BNC2_uc003zmm.3_Missense_Mutation_p.T109M|BNC2_uc003zmq.1_Missense_Mutation_p.T165M|BNC2_uc003zmr.1_Missense_Mutation_p.T188M|BNC2_uc003zmp.1_Missense_Mutation_p.T179M|BNC2_uc010mij.1_Missense_Mutation_p.T73M|BNC2_uc011lmv.2_5'UTR|BNC2_uc003zmo.1_Missense_Mutation_p.T73M	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CAGGTGCTGCGTGCTGAGCTT	0.517													A	16552745	G	A	16552745	3	1	4	1	0	0	0	0	1	0	0	0	1475	1145	40	1	2859	1	BNC2	9	16552745	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1080084	16552745	124660686	2233	4298											
BNC2	54796	broad.mit.edu	37	chr9	16738415	16738415	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaatatgctggccagtcTtgctcactaagcctgtcctc	8	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:16738415T>G	uc003zml.3	-	1	212	c.72A>C	c.(70-72)caA>caC	p.Q24H	BNC2_uc011lmw.2_Intron|BNC2_uc003zmm.3_Intron|BNC2_uc003zmq.1_Missense_Mutation_p.Q38H|BNC2_uc003zmr.1_Missense_Mutation_p.Q24H|BNC2_uc003zmp.1_Missense_Mutation_p.Q24H|BNC2_uc010mij.1_Intron|BNC2_uc003zmu.1_Non-coding_Transcript|BNC2_uc010mim.1_Intron|BNC2_uc010min.1_Intron	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CTGGCCAGTCTTGCTCACTAA	0.433													G	16738415	T	G	16738415	3	3	4	1	0	0	0	0	1	0	0	0	1475	1606	56	5	3251	5	BNC2	9	16738415	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	185670	16738415	124475016	2234	4299											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18681926	18681926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccacataaaagaggaatgCatcgtacccactccctgcta	6	15	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:18681926C>T	uc003zne.4	+	11	1610	c.1458C>T	c.(1456-1458)tgC>tgT	p.C486C	ADAMTSL1_uc003znc.4_Silent_p.C486C	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	486	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AAGAGGAATGCATCGTACCCA	0.488													T	18681926	C	T	18681926	2	4	4	1	0	0	0	0	0	0	0	1	274	718	25	2		2	ADAMTSL1	9	18681926	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1943511	18681926	122531505	2235	4300											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18706803	18706803	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgtggggacccaggtgCgaatagtcaggtgccaggtg	19	7	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:18706803C>T	uc003zne.4	+	13	1785	c.1633C>T	c.(1633-1635)Cga>Tga	p.R545*		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	545	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GACCCAGGTGCGAATAGTCAG	0.607													T	18706803	C	T	18706803	4	4	4	1	0	0	0	0	0	1	0	0	274	760	27	1	1691	1	ADAMTSL1	9	18706803	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	24877	18706803	122506628	2236	4301											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18770654	18770654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaggttctttgcaagcagCgcatggctgatggcagcttc	14	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:18770654C>T	uc003zne.4	+	16	2424	c.2272C>T	c.(2272-2274)Cgc>Tgc	p.R758C		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	758						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTGCAAGCAGCGCATGGCTGA	0.512													T	18770654	C	T	18770654	3	4	4	1	0	0	0	0	1	0	0	0	274	768	27	1	2342	1	ADAMTSL1	9	18770654	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	63851	18770654	122442777	2237	4302											
HAUS6	54801	broad.mit.edu	37	chr9	19058813	19058813	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctttctcttcagtcaaatgaGactggccaaaatctgataca	6	10	4	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:19058813G>A	uc003znk.3	-	15	2205	c.1952C>T	c.(1951-1953)tCt>tTt	p.S651F	HAUS6_uc011lmz.2_Missense_Mutation_p.S371F|HAUS6_uc022bdv.1_Missense_Mutation_p.S515F|HAUS6_uc003znl.1_Missense_Mutation_p.S515F	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA.	651					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGTCAAATGAGACTGGCCAAA	0.398													A	19058813	G	A	19058813	3	1	4	1	0	0	0	0	1	0	0	0	6970	942	33	4	923	4	HAUS6	9	19058813	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	288159	19058813	122154618	2238	4303											
DENND4C	55667	broad.mit.edu	37	chr9	19346603	19346603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttctccagttattgcacGtaatctggctgatgaaatag	9	7	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:19346603G>A	uc003znq.3	+	17	3061	c.2981G>A	c.(2980-2982)cGt>cAt	p.R994H	DENND4C_uc011lnc.2_Missense_Mutation_p.R324H|DENND4C_uc011lnd.2_Missense_Mutation_p.R282H|DENND4C_uc003znr.3_Missense_Mutation_p.R282H|DENND4C_uc003zns.3_Missense_Mutation_p.R176H|DENND4C_uc003znt.3_Missense_Mutation_p.R176H	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	994						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTTATTGCACGTAATCTGGCT	0.378													A	19346603	G	A	19346603	3	1	4	1	0	0	0	0	1	0	0	0	4435	1145	40	1	3051	1	DENND4C	9	19346603	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	287790	19346603	121866828	2239	4304											
RPS6	6194	broad.mit.edu	37	chr9	19379526	19379526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagcagcaacttctgtggCcatacgcttctcatagaaag	9	11	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:19379526C>T	uc003znv.1	-	1	139	c.97G>A	c.(97-99)Gcc>Acc	p.A33T	RPS6_uc003znw.1_Missense_Mutation_p.A2T	NM_001010	NP_001001	P62753	RS6_HUMAN	Homo sapiens ribosomal protein S6 (RPS6), mRNA.	33					TOR signaling cascade|endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		ACTTCTGTGGCCATACGCTTC	0.453													T	19379526	C	T	19379526	3	4	4	1	0	0	0	0	1	0	0	0	13649	739	26	2	672	2	RPS6	9	19379526	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	32923	19379526	121833905	2240	4305											
MLLT3	4300	broad.mit.edu	37	chr9	20448143	20448143	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcctgccttcagcaactttCtcctaaagtcctctgtgggg	8	14	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:20448143C>T	uc003zoe.2	-	3	657	c.398G>A	c.(397-399)aGa>aAa	p.R133K	MLLT3_uc011lne.1_Missense_Mutation_p.R101K|MLLT3_uc011lnf.1_Missense_Mutation_p.R130K|MLLT3_uc003zof.3_Intron	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		CAGCAACTTTCTCCTAAAGTC	0.403			T	MLL	ALL								T	20448143	C	T	20448143	3	4	4	1	0	0	0	0	1	0	0	0	9628	913	32	4	1340	4	MLLT3	9	20448143	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1068617	20448143	120765288	2241	4306											
IFNB1	3456	broad.mit.edu	37	chr9	21077640	21077640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctcatagatggtcaatgCggcgtcctccttctggaact	9	12	3	1	rs146710785	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:21077640C>T	uc003zok.3	-	0	304	c.229G>A	c.(229-231)Gca>Aca	p.A77T		NM_002176	NP_002167	P01574	IFNB_HUMAN	Homo sapiens interferon, beta 1, fibroblast (IFNB1), mRNA.	77					B cell proliferation|activation of caspase activity|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of cell proliferation|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity	p.A76T(1)		breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	ATGGTCAATGCGGCGTCCTCC	0.473													T	21077640	C	T	21077640	3	4	4	1	0	0	0	0	1	0	0	0	7546	768	27	1	338	1	IFNB1	9	21077640	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	629497	21077640	120135791	2242	4307											
IFNA16	3449	broad.mit.edu	37	chr9	21217077	21217077	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctcatggaaggcagagatGgcttgagccttctggaactg	13	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:21217077G>T	uc003zor.1	-	0	234	c.228C>A	c.(226-228)gcC>gcA	p.A76A	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	76					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AGGCAGAGATGGCTTGAGCCT	0.473													T	21217077	G	T	21217077	2	4	4	1	0	0	0	0	0	0	0	1	7535	1335	47	5		5	IFNA16	9	21217077	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	139437	21217077	119996354	2243	4308											
KLHL9	55958	broad.mit.edu	37	chr9	21333437	21333437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagtcattggagccttttgCatccatttatctgtatctgg	9	8	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:21333437C>T	uc003zoy.3	-	0	1993	c.1422G>A	c.(1420-1422)atG>atA	p.M474I	KLHL9_uc003zow.3_Intron|KLHL9_uc003zox.3_Non-coding_Transcript	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	Homo sapiens kelch-like 9 (Drosophila) (KLHL9), mRNA.	474					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GAGCCTTTTGCATCCATTTAT	0.413													T	21333437	C	T	21333437	3	4	4	1	0	0	0	0	1	0	0	0	8396	710	25	2	435	2	KLHL9	9	21333437	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	116360	21333437	119879994	2244	4309											
LRRC19	64922	broad.mit.edu	37	chr9	26997741	26997741	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttacctaatgtcacatttgAtgtgttcaaccagttctgca	6	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:26997741A>T	uc003zqh.3	-	2	691	c.580T>A	c.(580-582)Tca>Aca	p.S194T	IFT74_uc010mja.3_Intron|IFT74_uc010mjb.3_Intron|IFT74_uc003zqf.4_Intron|IFT74_uc003zqg.4_Intron	NM_022901	NP_075052	Q9H756	LRC19_HUMAN	Homo sapiens leucine rich repeat containing 19 (LRRC19), mRNA.	194	LRRCT.					integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		GTCACATTTGATGTGTTCAAC	0.333													T	26997741	A	T	26997741	3	4	4	1	0	0	0	0	1	0	0	0	8975	333	12	5	544	5	LRRC19	9	26997741	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	5664304	26997741	114215690	2245	4310											
TOPORS	10210	broad.mit.edu	37	chr9	32544122	32544122	+	Frame_Shift_Del	DEL	T	T	-													atagtgggcattcagctttgTtttttgaccactcctgtaca							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:32544122delT	uc003zrb.2	-	3	568	c.401delA	c.(400-402)AACfs	p.N134fs	TOPORS_uc003zrc.2_Frame_Shift_Del_p.N67fs	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	134	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.|RING-type.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TTCAGCTTTGTTTTTTGACCA	0.398													-	32544122	T	-	32544122	7	5	4	1	0	1	0	1	0	0	0	0	16367	1725	60	0	2740	0	TOPORS	9	32544122	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	5546381	32544122	108669309	2246	4311											
UBAP2	55833	broad.mit.edu	37	chr9	33944640	33944640	+	Splice_Site	DEL	A	A	-													caggttgagatttgaagtctAaaaaaagtaagcagcaatta							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:33944639_33944639TA>T	uc003ztq.1	-	14	1384	c.1271_splice	c.e14-1	p.D424_splice	UBAP2_uc011loc.1_Splice_Site_p.D333_splice|UBAP2_uc011lod.1_Splice_Site_p.D157_splice|UBAP2_uc011loe.1_Splice_Site_p.D179_splice|UBAP2_uc011lof.1_Splice_Site_p.D349_splice|UBAP2_uc011log.1_Splice_Site_p.D370_splice|UBAP2_uc003ztr.2_Splice_Site_p.D296_splice|UBAP2_uc003zts.3_Splice_Site_p.D57_splice	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	424										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ATTTGAAGTCTAAAAAAAGTA	0.438													-	33944640	A	-	33944640	8	5	4	1	0	1	0	1	0	0	1	0	16834	377	13	0		0	UBAP2	9	33944640	Splice_Site	DEL	A	TCGA-BR-4184-01A-01D-1126-08	1400518	33944640	107268791	2247	4312											
UBAP1	51271	broad.mit.edu	37	chr9	34241362	34241362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcacagtacagccacaatGccacctcctattaaccccat	3	17	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:34241362G>A	uc022bfy.1	+	4	737	c.339G>A	c.(337-339)atG>atA	p.M113I	UBAP1_uc010mka.2_Missense_Mutation_p.M149I|UBAP1_uc003zty.3_Missense_Mutation_p.M113I|UBAP1_uc022bfz.1_Missense_Mutation_p.M113I|UBAP1_uc003ztx.3_Missense_Mutation_p.M113I|UBAP1_uc011loj.2_Missense_Mutation_p.M177I|UBAP1_uc011loi.2_Missense_Mutation_p.M149I|KIF24_uc010mkb.3_Intron|UBAP1_uc003ztz.3_Missense_Mutation_p.M113I	NM_001171203	NP_057609	Q9NZ09	UBAP1_HUMAN	Homo sapiens ubiquitin associated protein 1 (UBAP1), transcript variant 2, mRNA.	113						cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			CAGCCACAATGCCACCTCCTA	0.507													A	34241362	G	A	34241362	3	1	4	1	0	0	0	0	1	0	0	0	16833	1319	46	2	586	2	UBAP1	9	34241362	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	296722	34241362	106972069	2248	4313											
DNAI1	27019	broad.mit.edu	37	chr9	34514714	34514714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catactcttctactgtgttcGcagcagtcaccacagatggg	9	12	3	1	rs145483542		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:34514714G>A	uc003zum.3	+	17	1988	c.1795G>A	c.(1795-1797)Gca>Aca	p.A599T		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	599					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TACTGTGTTCGCAGCAGTCAC	0.562									Kartagener syndrome				A	34514714	G	A	34514714	3	1	4	1	0	0	0	0	1	0	0	0	4609	1087	38	1	1865	1	DNAI1	9	34514714	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	273352	34514714	106698717	2249	4314											
C9orf131	138724	broad.mit.edu	37	chr9	35045333	35045333	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaggtcccatcccaagggCcatgtgtacacatggaggct	12	13	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:35045333C>A	uc003zvw.3	+	1	2736	c.2707C>A	c.(2707-2709)Cca>Aca	p.P903T	C9orf131_uc003zvu.3_Missense_Mutation_p.P855T|C9orf131_uc003zvv.3_Missense_Mutation_p.P830T|C9orf131_uc003zvx.3_Missense_Mutation_p.P868T	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	903								p.P903S(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ATCCCAAGGGCCATGTGTACA	0.557													A	35045333	C	A	35045333	3	1	4	1	0	0	0	0	1	0	0	0	2457	739	26	5	2729	5	C9orf131	9	35045333	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	530619	35045333	106168098	2250	4315											
CREB3	10488	broad.mit.edu	37	chr9	35736398	35736398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctcctcagtgttgtcccGccagcttcgtgccctcccca	8	18	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:35736398G>A	uc003zxv.3	+	8	1244	c.791G>A	c.(790-792)cGc>cAc	p.R264H	CREB3_uc010mla.3_Missense_Mutation_p.R183H	NM_006368	NP_006359	O43889	CREB3_HUMAN	Homo sapiens cAMP responsive element binding protein 3 (CREB3), mRNA.	288					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	Golgi apparatus|cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nucleus	CCR1 chemokine receptor binding|DNA binding|cAMP response element binding protein binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		GTGTTGTCCCGCCAGCTTCGT	0.582											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	35736398	G	A	35736398	3	1	4	1	0	0	0	0	1	0	0	0	3855	1087	38	1	825	1	CREB3	9	35736398	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	691065	35736398	105477033	2251	4316											
GLIPR2	152007	broad.mit.edu	37	chr9	36162402	36162402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaacaccaagaagatgggCgtggggaaggcgtccgcaag	16	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:36162402C>T	uc003zyz.3	+	4	382	c.348C>T	c.(346-348)ggC>ggT	p.G116G	GLIPR2_uc010mlf.1_3'UTR|GLIPR2_uc003zyy.1_Intron|GLIPR2_uc003zza.3_Non-coding_Transcript	NM_022343	NP_071738	Q9H4G4	GAPR1_HUMAN	Homo sapiens GLI pathogenesis-related 2 (GLIPR2), mRNA.	116				TGHFTAMVWKNTKKMGVGKASASDGSSFVVARYFPAGNVVN EGFFEENVLPPKK -> IRFFFFNFLLFLSKPLLYFSYF (in Ref. 3; BAC11019).		Golgi membrane|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						AGAAGATGGGCGTGGGGAAGG	0.562													T	36162402	C	T	36162402	2	4	4	1	0	0	0	0	0	0	0	1	6444	755	27	1		1	GLIPR2	9	36162402	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	426004	36162402	105051029	2252	4317											
FAM122A	116224	broad.mit.edu	37	chr9	71395646	71395646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccacccggagaagccagaGccccatcaattgcattagac	8	14	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:71395646G>A	uc004agw.1	+	0	683	c.566G>A	c.(565-567)aGc>aAc	p.S189N	PIP5K1B_uc004agu.3_Intron|PIP5K1B_uc011lrq.2_Intron|PIP5K1B_uc004agv.3_Intron	NM_138333	NP_612206	Q96E09	F122A_HUMAN	Homo sapiens family with sequence similarity 122A (FAM122A), mRNA.	189										endometrium(1)|lung(2)	3						AGAAGCCAGAGCCCCATCAAT	0.458													A	71395646	G	A	71395646	3	1	4	1	0	0	0	0	1	0	0	0	5419	971	34	2	568	2	FAM122A	9	71395646	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	35233244	71395646	69817785	2253	4318											
FAM122A	116224	broad.mit.edu	37	chr9	71395787	71395788	+	Frame_Shift_Del	DEL	GT	GT	-													tgcacagctgtcagatcctgGtgtgtgtgtatcttcggata							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:71395786_71395787GGT>G	uc004agw.1	+	0	823_824	c.706_707GGT>G	c.(706-708)ggtfs	p.G236fs	PIP5K1B_uc004agu.3_Intron|PIP5K1B_uc011lrq.2_Intron|PIP5K1B_uc004agv.3_Intron	NM_138333	NP_612206	Q96E09	F122A_HUMAN	Homo sapiens family with sequence similarity 122A (FAM122A), mRNA.	236										endometrium(1)|lung(2)	3						GTCAGATCCTGGTGTGTGTGTA	0.465													-	71395788	GT	-	71395787	7	5	4	1	0	1	0	1	0	0	0	0	5419	1261	44	0	709	0	FAM122A	9	71395787	Frame_Shift_Del	DEL	GT	TCGA-BR-4184-01A-01D-1126-08	141	71395787	69817644	2254	4319											
APBA1	320	broad.mit.edu	37	chr9	72131639	72131639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacgtagcctgagtaggccGcattcatggcttcctcgtgc	12	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:72131639G>A	uc004ahh.2	-	1	764	c.488C>T	c.(487-489)gCg>gTg	p.A163V		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	163					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGAGTAGGCCGCATTCATGGC	0.682													A	72131639	G	A	72131639	3	1	4	1	0	0	0	0	1	0	0	0	756	1087	38	1	2073	1	APBA1	9	72131639	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	735852	72131639	69081792	2255	4320											
SMC5	23137	broad.mit.edu	37	chr9	72933542	72933542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacacatctctaaaagtagCgcagtttctcactgtcactg	6	11	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:72933542C>T	uc004ahr.2	+	13	2036	c.1919C>T	c.(1918-1920)gCg>gTg	p.A640V	AX748336_uc004ahs.1_5'Flank	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA.	640	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	p.A640A(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						CTAAAAGTAGCGCAGTTTCTC	0.333													T	72933542	C	T	72933542	3	4	4	1	0	0	0	0	1	0	0	0	14786	768	27	1	1973	1	SMC5	9	72933542	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	801903	72933542	68279889	2256	4321											
TRPM3	80036	broad.mit.edu	37	chr9	73151051	73151051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagctcttcctggtgtgtgCatatggcgcacttggctcct	12	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:73151051C>T	uc004aid.3	-	24	5186	c.4942G>A	c.(4942-4944)Gca>Aca	p.A1648T	TRPM3_uc004ahu.3_Missense_Mutation_p.A1490T|TRPM3_uc004ahv.3_Missense_Mutation_p.A1450T|TRPM3_uc004ahw.3_Missense_Mutation_p.A1520T|TRPM3_uc004ahx.3_Missense_Mutation_p.A1507T|TRPM3_uc004ahy.3_Missense_Mutation_p.A1510T|TRPM3_uc004ahz.3_Missense_Mutation_p.A1497T|TRPM3_uc004aia.3_Missense_Mutation_p.A1495T|TRPM3_uc004aib.3_Missense_Mutation_p.A1485T|TRPM3_uc004aic.3_Intron	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1673						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTGGTGTGTGCATATGGCGCA	0.547													T	73151051	C	T	73151051	3	4	4	1	0	0	0	0	1	0	0	0	16584	710	25	2	185	2	TRPM3	9	73151051	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	217509	73151051	68062380	2257	4322											
TRPM3	80036	broad.mit.edu	37	chr9	73151922	73151923	+	Frame_Shift_Ins	INS	-	-	A													ggctcagggacctttctttaINSaaaatactttccaacttttc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:73151921_73151922T>TA	uc004aid.3	-	24	4315_4316	c.4071_4072A>TA	c.(4069-4074)tttaaafs	p.F1357fs	TRPM3_uc004ahu.3_Frame_Shift_Ins_p.F1199fs|TRPM3_uc004ahv.3_Frame_Shift_Ins_p.F1159fs|TRPM3_uc004ahw.3_Frame_Shift_Ins_p.F1229fs|TRPM3_uc004ahx.3_Frame_Shift_Ins_p.F1216fs|TRPM3_uc004ahy.3_Frame_Shift_Ins_p.F1219fs|TRPM3_uc004ahz.3_Frame_Shift_Ins_p.F1206fs|TRPM3_uc004aia.3_Frame_Shift_Ins_p.F1204fs|TRPM3_uc004aib.3_Frame_Shift_Ins_p.F1194fs|TRPM3_uc004aic.3_Intron	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1382						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GACCTTTCTTTAAAAATACTTT	0.47													A	73151923	-	A	73151922	7	5	4	1	0	1	1	0	0	0	0	0	16584	359	13	0	1056	0	TRPM3	9	73151922	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	871	73151922	68061509	2258	4323											
RORB	6096	broad.mit.edu	37	chr9	77286710	77286710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttctttcatcagaccgaGcctggcttatagaaccaagg	8	11	4	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:77286710G>A	uc004aji.3	+	8	1199	c.1150G>A	c.(1150-1152)Gcc>Acc	p.A384T	RORB_uc004ajh.3_Missense_Mutation_p.A373T	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	384	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ATCAGACCGAGCCTGGCTTAT	0.408													A	77286710	G	A	77286710	3	1	4	1	0	0	0	0	1	0	0	0	13529	971	34	2	1151	2	RORB	9	77286710	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4134788	77286710	63926721	2259	4324											
TRPM6	140803	broad.mit.edu	37	chr9	77415329	77415329	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagttcatacgtcaacagCgtcatggccatgcgctcatt	9	12	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:77415329C>T	uc004ajl.1	-	16	2317	c.2079G>A	c.(2077-2079)acG>acA	p.T693T	TRPM6_uc004ajk.1_Silent_p.T688T|TRPM6_uc022bib.1_Silent_p.T688T|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	693					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACGTCAACAGCGTCATGGCCA	0.502													T	77415329	C	T	77415329	2	4	4	1	0	0	0	0	0	0	0	1	16587	755	27	1		1	TRPM6	9	77415329	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	128619	77415329	63798102	2260	4325											
PCSK5	5125	broad.mit.edu	37	chr9	78686647	78686647	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttctgtgttgaaggagtgCgaatgctggacggagatgtc	15	6	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:78686647C>T	uc004akc.2	+	6	1265	c.727C>T	c.(727-729)Cga>Tga	p.R243*	PCSK5_uc004ajy.2_Nonsense_Mutation_p.R243*|PCSK5_uc004ajz.3_Nonsense_Mutation_p.R243*|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	243	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGAAGGAGTGCGAATGCTGGA	0.512													T	78686647	C	T	78686647	4	4	4	1	0	0	0	0	0	1	0	0	11603	760	27	1	753	1	PCSK5	9	78686647	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1271318	78686647	62526784	2261	4326											
PCSK5	5125	broad.mit.edu	37	chr9	78969113	78969113	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccccagtgcccaggagtgCtgtgactgccaggacaccac	11	17	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:78969113C>T	uc004akc.2	+	35	5689	c.5151C>T	c.(5149-5151)tgC>tgT	p.C1717C		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	782					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCCAGGAGTGCTGTGACTGCC	0.617													T	78969113	C	T	78969113	2	4	4	1	0	0	0	0	0	0	0	1	11603	812	28	2		2	PCSK5	9	78969113	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	282466	78969113	62244318	2262	4327											
PRUNE2	158471	broad.mit.edu	37	chr9	79325763	79325763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcatgttcctccgccaccGccccttcagggatggggctg	12	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:79325763G>A	uc010mpk.3	-	7	1551	c.1427C>T	c.(1426-1428)gCg>gTg	p.A476V	PRUNE2_uc022bih.1_Missense_Mutation_p.A298V	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	476					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCCGCCACCGCCCCTTCAGG	0.592													A	79325763	G	A	79325763	3	1	4	1	0	0	0	0	1	0	0	0	12641	1087	38	1	7887	1	PRUNE2	9	79325763	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	356650	79325763	61887668	2263	4328											
VPS13A	23230	broad.mit.edu	37	chr9	79910752	79910752	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caataaagctgagtgaaatgCgactatacaggtaagctttt	9	6	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:79910752C>T	uc004akr.3	+	32	4062	c.3802C>T	c.(3802-3804)Cga>Tga	p.R1268*	VPS13A_uc004akp.4_Nonsense_Mutation_p.R1268*|VPS13A_uc004akq.4_Nonsense_Mutation_p.R1268*|VPS13A_uc004aks.3_Nonsense_Mutation_p.R1229*|VPS13A_uc010mpo.1_5'UTR	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1268					Golgi to endosome transport|protein transport	intracellular	protein binding	p.R1268*(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGTGAAATGCGACTATACAG	0.343													T	79910752	C	T	79910752	4	4	4	1	0	0	0	0	0	1	0	0	17186	760	27	1	3932	1	VPS13A	9	79910752	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	584989	79910752	61302679	2264	4329											
TLE4	7091	broad.mit.edu	37	chr9	82227576	82227576	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccttattttttgcaggcagaGattgtcaagaggctgaatgc	11	7	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:82227576G>T	uc004ald.3	+	4	1086	c.237G>T	c.(235-237)gaG>gaT	p.E79D	TLE4_uc004alc.3_Missense_Mutation_p.E86D|TLE4_uc010mpr.3_5'UTR|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Missense_Mutation_p.E79D|TLE4_uc010mps.3_Missense_Mutation_p.E79D|TLE4_uc004alf.3_Missense_Mutation_p.E24D	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGCAGGCAGAGATTGTCAAGA	0.388													T	82227576	G	T	82227576	3	4	4	1	0	0	0	0	1	0	0	0	15938	933	33	5	276	5	TLE4	9	82227576	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2316824	82227576	58985855	2265	4330											
FRMD3	257019	broad.mit.edu	37	chr9	85914050	85914050	+	Frame_Shift_Del	DEL	A	A	-													tatcgaaatctacttcctttAaaaaatatcttgctgcttga							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:85914049_85914049TA>T	uc004ams.2	-	10	1181	c.979_979TA>A	c.(979-981)aaafs	p.K327fs	FRMD3_uc004amr.1_Frame_Shift_Del_p.K327fs|FRMD3_uc022bja.1_Frame_Shift_Del_p.K283fs|FRMD3_uc022biz.1_Frame_Shift_Del_p.K133fs	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	327						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CTACTTCCTTTAAAAAATATC	0.403													-	85914050	A	-	85914050	7	5	4	1	0	1	0	1	0	0	0	0	6050	359	13	0	831	0	FRMD3	9	85914050	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	3686474	85914050	55299381	2266	4331											
UBQLN1	29979	broad.mit.edu	37	chr9	86276800	86276800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcacggttcaaaaatcCcattgcactgagttgttcca	7	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:86276800C>T	uc004amv.3	-	10	2246	c.1672G>A	c.(1672-1674)Gga>Aga	p.G558R	UBQLN1_uc004amw.3_Missense_Mutation_p.G530R	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	Homo sapiens ubiquilin 1 (UBQLN1), transcript variant 1, mRNA.	558	UBA.				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TTCAAAAATCCCATTGCACTG	0.403													T	86276800	C	T	86276800	3	4	4	1	0	0	0	0	1	0	0	0	16893	632	22	4	101	4	UBQLN1	9	86276800	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	362750	86276800	54936631	2267	4332											
HNRNPK	3190	broad.mit.edu	37	chr9	86585141	86585141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctgtaatggtaatgatccGatcttcggatccttctaaag	8	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:86585141G>A	uc004ang.4	-	15	1521	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	HNRNPK_uc011lsw.2_Missense_Mutation_p.R193W|HNRNPK_uc004and.4_Missense_Mutation_p.R193W|HNRNPK_uc004anf.4_Missense_Mutation_p.R433W|HNRNPK_uc004anh.4_Missense_Mutation_p.R409W|HNRNPK_uc011lsx.2_Missense_Mutation_p.R409W|HNRNPK_uc004anl.4_Missense_Mutation_p.R433W|HNRNPK_uc004anm.4_Missense_Mutation_p.R433W|MIR7-1_uc004ano.1_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein K (HNRNPK), transcript variant 3, mRNA.	433	KH 3.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GTAATGATCCGATCTTCGGAT	0.413													A	86585141	G	A	86585141	3	1	4	1	0	0	0	0	1	0	0	0	7269	1057	37	1	140	1	HNRNPK	9	86585141	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	308341	86585141	54628290	2268	4333											
DAPK1	1612	broad.mit.edu	37	chr9	90255318	90255318	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatacttcagtaataccagTgccctagccaaagatttcat	6	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:90255318T>C	uc004apc.3	+	7	873	c.735T>C	c.(733-735)agT>agC	p.S245S	DAPK1_uc004ape.3_Silent_p.S245S|DAPK1_uc004apd.3_Silent_p.S245S|DAPK1_uc011ltg.2_Silent_p.S245S|DAPK1_uc011lth.2_5'UTR	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	245	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GTAATACCAGTGCCCTAGCCA	0.483									Chronic Lymphocytic Leukemia, Familial Clustering of				C	90255318	T	C	90255318	2	2	4	1	0	0	0	0	0	0	0	1	4235	1693	59	3		3	DAPK1	9	90255318	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	3670177	90255318	50958113	2269	4334											
CDK20	23552	broad.mit.edu	37	chr9	90585726	90585726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtagaggcggctgccGtctggggaaaagactcgagc	17	8	1	2	rs150818250	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:90585726G>A	uc004apr.3	-	3	799	c.465C>T	c.(463-465)gaC>gaT	p.D155D	CDK20_uc004aps.3_Silent_p.D155D|CDK20_uc022bjj.1_Silent_p.D155D|CDK20_uc004apt.3_Silent_p.D168D|CDK20_uc004apu.3_Silent_p.D155D	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	Homo sapiens cyclin-dependent kinase 20 (CDK20), transcript variant 3, mRNA.	155	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						GGCGGCTGCCGTCTGGGGAAA	0.592													A	90585726	G	A	90585726	2	1	4	1	0	0	0	0	0	0	0	1	3137	1136	40	1		1	CDK20	9	90585726	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	330408	90585726	50627705	2270	4335											
SHC3	53358	broad.mit.edu	37	chr9	91628425	91628425	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagagacaatgggcagGctgctttctaggtggtggtt	15	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:91628425G>A	uc004aqf.2	-	11	2029	c.1722C>T	c.(1720-1722)agC>agT	p.S574S		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	574	SH2.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CAATGGGCAGGCTGCTTTCTA	0.542													A	91628425	G	A	91628425	2	1	4	1	0	0	0	0	0	0	0	1	14272	1194	42	2		2	SHC3	9	91628425	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1042699	91628425	49585006	2271	4336											
SEMA4D	10507	broad.mit.edu	37	chr9	91994281	91994281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccaccttcacttccaggaCgtgcttggcgaccacttgga	9	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:91994281C>T	uc004aqo.1	-	17	2499	c.1927G>A	c.(1927-1929)Gtc>Atc	p.V643I	SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.V643I	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	643					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						ACTTCCAGGACGTGCTTGGCG	0.527													T	91994281	C	T	91994281	3	4	4	1	0	0	0	0	1	0	0	0	14034	536	19	1	1235	1	SEMA4D	9	91994281	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	365856	91994281	49219150	2272	4337											
AUH	549	broad.mit.edu	37	chr9	93983211	93983211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgccatcgaggactcgcGcagagaatatgagctccttg	11	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:93983211G>A	uc004arf.4	-	6	754	c.719C>T	c.(718-720)gCg>gTg	p.A240V	AUH_uc004arg.4_Missense_Mutation_p.A211V	NM_001698	NP_001689	Q13825	AUHM_HUMAN	Homo sapiens AU RNA binding protein/enoyl-CoA hydratase (AUH), nuclear gene encoding mitochondrial protein, mRNA.	240			A -> V (in MGA1).		branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|mRNA 3'-UTR binding|methylglutaconyl-CoA hydratase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						GAGGACTCGCGCAGAGAATAT	0.557													A	93983211	G	A	93983211	3	1	4	1	0	0	0	0	1	0	0	0	1219	1087	38	1	316	1	AUH	9	93983211	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1988930	93983211	47230220	2273	4338											
ROR2	4920	broad.mit.edu	37	chr9	94487389	94487389	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgatctctttgagtttggCctgtcaagaagaaaagcccc	10	10	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:94487389C>T	uc004arj.2	-	9	1586	c.1387_splice	c.e9-1	p.A463_splice	ROR2_uc004ari.1_Splice_Site_p.A323_splice	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	463					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TTGAGTTTGGCCTGTCAAGAA	0.587													T	94487389	C	T	94487389	5	4	4	1	0	0	0	0	0	0	1	0	13527	753	26	2	1448	2	ROR2	9	94487389	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	504178	94487389	46726042	2274	4339											
CENPP	401541	broad.mit.edu	37	chr9	95142122	95142122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtttgaatatcgtaagcGcacgtttaaacatctcaagg	10	7	1	1	rs112987350		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:95142122G>A	uc004arz.3	+	4	1085	c.545G>A	c.(544-546)cGc>cAc	p.R182H	CENPP_uc010mqx.3_Missense_Mutation_p.R70H	NM_001012267	NP_001012267	Q6IPU0	CENPP_HUMAN	Homo sapiens centromere protein P (CENPP), mRNA.	182					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		p.R182H(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						TATCGTAAGCGCACGTTTAAA	0.343													A	95142122	G	A	95142122	3	1	4	1	0	0	0	0	1	0	0	0	3240	1087	38	1	563	1	CENPP	9	95142122	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	654733	95142122	46071309	2275	4340											
BICD2	23299	broad.mit.edu	37	chr9	95481525	95481525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagcggcccttctcctcggCgtgctgggcctcacgagcct	12	16	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:95481525C>T	uc004asp.1	-	4	1459	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	BICD2_uc004aso.1_Missense_Mutation_p.A468T	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	468					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTCTCCTCGGCGTGCTGGGCC	0.682													T	95481525	C	T	95481525	3	4	4	1	0	0	0	0	1	0	0	0	1429	768	27	1	1187	1	BICD2	9	95481525	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	339403	95481525	45731906	2276	4341											
ZNF484	83744	broad.mit.edu	37	chr9	95610226	95610226	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagactgcctcacattcatgGcattcatgctgcttttcttc	6	12	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:95610226G>A	uc004asu.1	-	4	992	c.843C>T	c.(841-843)tgC>tgT	p.C281C	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Silent_p.C283C|ZNF484_uc004asv.1_Silent_p.C245C|ZNF484_uc010mrb.1_Silent_p.C245C	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E280*(1)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						CACATTCATGGCATTCATGCT	0.433													A	95610226	G	A	95610226	2	1	4	1	0	0	0	0	0	0	0	1	17934	1195	42	2		2	ZNF484	9	95610226	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	128701	95610226	45603205	2277	4342											
WNK2	65268	broad.mit.edu	37	chr9	96009888	96009888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagtccatccgtgaccgcGtggccttgatccagtggcgg	13	14	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:96009888G>A	uc004ati.1	+	6	1606	c.1606G>A	c.(1606-1608)Gtg>Atg	p.V536M	WNK2_uc011lud.1_Missense_Mutation_p.V536M|WNK2_uc004atj.3_Missense_Mutation_p.V536M|WNK2_uc004atk.3_Missense_Mutation_p.V173M|WNK2_uc010mrc.1_Missense_Mutation_p.V536M|WNK2_uc010mrd.1_Missense_Mutation_p.V173M	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	536					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCGTGACCGCGTGGCCTTGAT	0.622													A	96009888	G	A	96009888	3	1	4	1	0	0	0	0	1	0	0	0	17375	1145	40	1	1632	1	WNK2	9	96009888	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	399662	96009888	45203543	2278	4343											
WNK2	65268	broad.mit.edu	37	chr9	96021599	96021599	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagatggcgcctactgaCgtccctccttccccccatca	6	20	1	2	rs147646744	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:96021599C>T	uc004ati.1	+	10	2769	c.2769C>T	c.(2767-2769)gaC>gaT	p.D923D	WNK2_uc011lud.1_Silent_p.D923D|WNK2_uc004atj.3_Silent_p.D923D|WNK2_uc004atk.3_Silent_p.D560D|WNK2_uc010mrc.1_Silent_p.D871D	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	923					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CGCCTACTGACGTCCCTCCTT	0.667													T	96021599	C	T	96021599	2	4	4	1	0	0	0	0	0	0	0	1	17375	535	19	1		1	WNK2	9	96021599	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	11711	96021599	45191832	2279	4344											
C9orf129	445577	broad.mit.edu	37	chr9	96081439	96081439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggtcagtggcacggaatCcccaatagattgtatatctg	12	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:96081439C>T	uc010mre.3	-	3	747	c.383G>A	c.(382-384)gGa>gAa	p.G128E	WNK2_uc011lud.1_3'UTR|WNK2_uc004atj.3_Intron|WNK2_uc004atk.3_3'UTR	NM_001098808	NP_001092278	Q5T035	CI129_HUMAN	Homo sapiens chromosome 9 open reading frame 129 (C9orf129), mRNA.	128										endometrium(2)|large_intestine(1)|lung(1)|ovary(2)	6						GGCACGGAATCCCCAATAGAT	0.463													T	96081439	C	T	96081439	3	4	4	1	0	0	0	0	1	0	0	0	2456	855	30	4	215	4	C9orf129	9	96081439	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	59840	96081439	45131992	2280	4345											
FAM120A	23196	broad.mit.edu	37	chr9	96324555	96324555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggtggaaggtactatgGcagaggttacaaaaaccagg	14	5	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:96324555G>A	uc004atw.3	+	16	3039	c.3014G>A	c.(3013-3015)gGc>gAc	p.G1005D	FAM120A_uc004aty.3_Missense_Mutation_p.G786D|FAM120A_uc004atz.3_Missense_Mutation_p.G653D|FAM120A_uc010mrg.3_Missense_Mutation_p.G272D|FAM120A_uc004aua.1_5'Flank	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	1005	RNA binding.					cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGGTACTATGGCAGAGGTTAC	0.438													A	96324555	G	A	96324555	3	1	4	1	0	0	0	0	1	0	0	0	5415	1203	42	2	3080	2	FAM120A	9	96324555	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	243116	96324555	44888876	2281	4346											
PHF2	5253	broad.mit.edu	37	chr9	96415473	96415473	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acccctagaatgtccagcttCgtggagccacctgacattgt	9	13	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:96415473C>T	uc004aub.3	+	5	762	c.615C>T	c.(613-615)ttC>ttT	p.F205F	PHF2_uc011lug.1_Silent_p.F88F	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	205	JmjC.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.F205F(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TGTCCAGCTTCGTGGAGCCAC	0.502													T	96415473	C	T	96415473	2	4	4	1	0	0	0	0	0	0	0	1	11830	883	31	1		1	PHF2	9	96415473	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	90918	96415473	44797958	2282	4347											
ZNF510	22869	broad.mit.edu	37	chr9	99522503	99522503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattctcacatacattaccGcaacctattttctttgttga	4	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:99522503G>A	uc004awn.1	-	5	798	c.609C>T	c.(607-609)tgC>tgT	p.C203C	ZNF510_uc004awo.1_Silent_p.C203C	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	Homo sapiens zinc finger protein 510 (ZNF510), mRNA.	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				ATACATTACCGCAACCTATTT	0.294													A	99522503	G	A	99522503	2	1	4	1	0	0	0	0	0	0	0	1	17951	1079	38	1		1	ZNF510	9	99522503	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3107030	99522503	41690928	2283	4348											
TDRD7	23424	broad.mit.edu	37	chr9	100245401	100245401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggtggaccatacgagcGctttctccacagaggaactg	11	12	1	1	rs142868591		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:100245401G>A	uc004axj.3	+	14	2908	c.2683G>A	c.(2683-2685)Gct>Act	p.A895T	TDRD7_uc011lux.2_Missense_Mutation_p.A821T|TDRD7_uc010msp.1_Missense_Mutation_p.A147T|TDRD7_uc011luy.2_Missense_Mutation_p.A215T	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	895	Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				CCATACGAGCGCTTTCTCCAC	0.507													A	100245401	G	A	100245401	3	1	4	1	0	0	0	0	1	0	0	0	15732	1087	38	1	2737	1	TDRD7	9	100245401	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	722898	100245401	40968030	2284	4349											
TSTD2	158427	broad.mit.edu	37	chr9	100365028	100365028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtttatactggtcccagCgggctccacagtatgaacac	10	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:100365028C>T	uc004axn.3	-	9	1762	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H	TSTD2_uc004axo.3_Missense_Mutation_p.R199H	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 (TSTD2), mRNA.	425										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						CTGGTCCCAGCGGGCTCCACA	0.517													T	100365028	C	T	100365028	3	4	4	1	0	0	0	0	1	0	0	0	16672	768	27	1	280	1	TSTD2	9	100365028	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	119627	100365028	40848403	2285	4350											
NCBP1	4686	broad.mit.edu	37	chr9	100420938	100420938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggttgtcttaccatcagCgtatattagatattgttcct	8	7	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:100420938C>T	uc004axq.3	+	14	1849	c.1390C>T	c.(1390-1392)Cgt>Tgt	p.R464C		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	Homo sapiens nuclear cap binding protein subunit 1, 80kDa (NCBP1), mRNA.	464					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	RNA cap binding|protein binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TTACCATCAGCGTATATTAGA	0.393													T	100420938	C	T	100420938	3	4	4	1	0	0	0	0	1	0	0	0	10211	768	27	1	1448	1	NCBP1	9	100420938	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	55910	100420938	40792493	2286	4351											
NCBP1	4686	broad.mit.edu	37	chr9	100431913	100431913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgagcacctagtacgatgCgaaactgatgggaccagtgt	12	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:100431913C>T	uc004axq.3	+	21	2643	c.2184C>T	c.(2182-2184)tgC>tgT	p.C728C		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	Homo sapiens nuclear cap binding protein subunit 1, 80kDa (NCBP1), mRNA.	728					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	RNA cap binding|protein binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TAGTACGATGCGAAACTGATG	0.418													T	100431913	C	T	100431913	2	4	4	1	0	0	0	0	0	0	0	1	10211	776	27	1		1	NCBP1	9	100431913	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	10975	100431913	40781518	2287	4352											
C9orf156	51531	broad.mit.edu	37	chr9	100672390	100672390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagtgaggggccatgggCtgtgtctctgccctgcttcc	16	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:100672390C>T	uc004axv.1	-	3	995	c.918G>A	c.(916-918)caG>caA	p.Q306Q	C9orf156_uc004axw.1_Silent_p.Q203Q|C9orf156_uc010msq.1_Silent_p.Q203Q	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN	Homo sapiens chromosome 9 open reading frame 156 (C9orf156), mRNA.	306					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				GGGCCATGGGCTGTGTCTCTG	0.567													T	100672390	C	T	100672390	2	4	4	1	0	0	0	0	0	0	0	1	2465	796	28	2		2	C9orf156	9	100672390	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	240477	100672390	40541041	2288	4353											
NANS	54187	broad.mit.edu	37	chr9	100845320	100845320	+	Frame_Shift_Del	DEL	A	A	-													aattggtagataatcatggcAaaaaaatcaagtcttaaaaa					rs34624194		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:100845319_100845319CA>C	uc004ayc.3	+	5	1194	c.1062_1062CA>C	c.(1060-1062)ggcfs	p.G354fs	TRIM14_uc004ayd.2_Intron	NM_018946	NP_061819	Q9NR45	SIAS_HUMAN	Homo sapiens N-acetylneuraminic acid synthase (NANS), mRNA.	354					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				ATAATCATGGCAAAAAAATCA	0.438													-	100845320	A	-	100845320	7	5	4	1	0	1	0	1	0	0	0	0	10155	131	5	0	1085	0	NANS	9	100845320	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	172930	100845320	40368111	2289	4354											
GABBR2	9568	broad.mit.edu	37	chr9	101340263	101340263	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actctgcaatgatggatgtgAcggatggacagacgcctcca	12	10	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:101340263A>G	uc004ays.3	-	1	873	c.413T>C	c.(412-414)gTc>gCc	p.V138A		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	138					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GATGGATGTGACGGATGGACA	0.517													G	101340263	A	G	101340263	3	3	4	1	0	0	0	0	1	0	0	0	6156	275	10	3	2484	3	GABBR2	9	101340263	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	494943	101340263	39873168	2290	4355											
INVS	27130	broad.mit.edu	37	chr9	103054969	103054969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccggctggttctagccgCcctggcagtgcccgggggga	16	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:103054969C>T	uc004bap.1	+	13	2642	c.2430C>T	c.(2428-2430)cgC>cgT	p.R810R	INVS_uc011lve.1_Silent_p.R714R|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Silent_p.R714R|INVS_uc010mtb.1_Silent_p.R484R	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	Homo sapiens inversin (INVS), transcript variant 1, mRNA.	810					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GTTCTAGCCGCCCTGGCAGTG	0.617													T	103054969	C	T	103054969	2	4	4	1	0	0	0	0	0	0	0	1	7787	726	26	2		2	INVS	9	103054969	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1714706	103054969	38158462	2291	4356											
TEX10	54881	broad.mit.edu	37	chr9	103082626	103082626	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaaagctgtgtctggatgAcatgaggaactcctcgaagg	15	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:103082626A>G	uc004bas.3	-	10	2338	c.2123T>C	c.(2122-2124)gTc>gCc	p.V708A	TEX10_uc011lvf.2_Missense_Mutation_p.V547A|TEX10_uc011lvg.2_Missense_Mutation_p.V711A	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA.	708						MLL1 complex|integral to membrane|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGTCTGGATGACATGAGGAAC	0.383													G	103082626	A	G	103082626	3	3	4	1	0	0	0	0	1	0	0	0	15769	275	10	3	686	3	TEX10	9	103082626	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	27657	103082626	38130805	2292	4357											
LPPR1	54886	broad.mit.edu	37	chr9	104079735	104079735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgtggagtacccctaatggCtttcccaaggatagaaagcc	10	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:104079735C>A	uc004bbb.3	+	6	1301	c.902C>A	c.(901-903)gCt>gAt	p.A301D	LPPR1_uc011lvi.2_Missense_Mutation_p.A277D|LPPR1_uc004bbc.3_Missense_Mutation_p.A301D|LPPR1_uc010mtc.3_Missense_Mutation_p.A285D	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	301						integral to membrane	catalytic activity										CCCCTAATGGCTTTCCCAAGG	0.488													A	104079735	C	A	104079735	3	1	4	1	0	0	0	0	1	0	0	0	8924	797	28	5	924	5	LPPR1	9	104079735	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	997109	104079735	37133696	2293	4358											
BAAT	570	broad.mit.edu	37	chr9	104125184	104125184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggaatgccaaaaggaaaGttggtcccattaataagtac	10	6	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:104125184G>A	uc010mtd.3	-	3	892	c.783C>T	c.(781-783)aaC>aaT	p.N261N	BAAT_uc004bbd.4_Silent_p.N261N	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	261					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CAAAAGGAAAGTTGGTCCCAT	0.453													A	104125184	G	A	104125184	2	1	4	1	0	0	0	0	0	0	0	1	1280	1020	36	4		4	BAAT	9	104125184	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	45449	104125184	37088247	2294	4359											
RNF20	56254	broad.mit.edu	37	chr9	104302555	104302555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgttggatcagcggcaggCcattgaagatgaacttcgtg	13	7	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:104302555C>T	uc004bbn.3	+	2	290	c.200C>T	c.(199-201)gCc>gTc	p.A67V		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	Homo sapiens ring finger protein 20 (RNF20), mRNA.	67					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CAGCGGCAGGCCATTGAAGAT	0.463													T	104302555	C	T	104302555	3	4	4	1	0	0	0	0	1	0	0	0	13473	739	26	2	206	2	RNF20	9	104302555	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	177371	104302555	36910876	2295	4360											
TMEM38B	55151	broad.mit.edu	37	chr9	108457045	108457045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagtgatggcggtgaaacGtcagccgggtgagtgcgggg	20	7	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:108457045G>A	uc004bcu.1	+	0	221	c.104G>A	c.(103-105)cGt>cAt	p.R35H	TMEM38B_uc010mtn.1_Missense_Mutation_p.R35H	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	Homo sapiens transmembrane protein 38B (TMEM38B), mRNA.	35						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						GCGGTGAAACGTCAGCCGGGT	0.642													A	108457045	G	A	108457045	3	1	4	1	0	0	0	0	1	0	0	0	16157	1145	40	1	106	1	TMEM38B	9	108457045	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4154490	108457045	32756386	2296	4361											
ZNF462	58499	broad.mit.edu	37	chr9	109691644	109691644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgcagatgagcatgagaaGcccacactgatggaagaaga	12	7	0	6			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:109691644G>A	uc004bcz.3	+	2	5740	c.5451G>A	c.(5449-5451)aaG>aaA	p.K1817K	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.K1665K|ZNF462_uc004bda.3_Silent_p.K1665K	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1817					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGCATGAGAAGCCCACACTGA	0.547													A	109691644	G	A	109691644	2	1	4	1	0	0	0	0	0	0	0	1	17923	962	34	2		2	ZNF462	9	109691644	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1234599	109691644	31521787	2297	4362											
IKBKAP	8518	broad.mit.edu	37	chr9	111659242	111659242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggatctctaccttgaagctCgtgtactttttgcagtacaa	8	10	1	1	rs137983175		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:111659242C>T	uc004bdm.4	-	23	3098	c.2578G>A	c.(2578-2580)Gag>Aag	p.E860K	IKBKAP_uc004bdl.3_Missense_Mutation_p.E511K|IKBKAP_uc011lwc.2_Missense_Mutation_p.E746K|IKBKAP_uc010mtq.3_Missense_Mutation_p.E511K	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	860					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCTTGAAGCTCGTGTACTTTT	0.448													T	111659242	C	T	111659242	3	4	4	1	0	0	0	0	1	0	0	0	7610	893	31	1	1476	1	IKBKAP	9	111659242	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1967598	111659242	29554189	2298	4363											
EPB41L4B	54566	broad.mit.edu	37	chr9	112042125	112042125	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcagagtcgaggaactggAggccaaagtaatctgtttcc	14	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:112042125A>C	uc004bdz.1	-	1	678	c.383T>G	c.(382-384)cTc>cGc	p.L128R	EPB41L4B_uc004bea.3_Missense_Mutation_p.L128R	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	128	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGGAACTGGAGGCCAAAGTA	0.443													C	112042125	A	C	112042125	3	2	4	1	0	0	0	0	1	0	0	0	5156	304	11	5	2571	5	EPB41L4B	9	112042125	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	382883	112042125	29171306	2299	4364											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112899061	112899061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggccaagtttgagctgCgtgccttccatgaggacaag	14	9	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:112899061C>T	uc004bei.2	+	8	2125	c.1933C>T	c.(1933-1935)Cgt>Tgt	p.R645C	PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.R413C|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.R413C|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R223C|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.R271C|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.R271C|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R231C|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.R182C|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.R182C	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	182							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GTTTGAGCTGCGTGCCTTCCA	0.517													T	112899061	C	T	112899061	3	4	4	1	0	0	0	0	1	0	0	0	11410	768	27	1	1267	1	PALM2-AKAP2	9	112899061	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	856936	112899061	28314370	2300	4365											
SVEP1	79987	broad.mit.edu	37	chr9	113168502	113168502	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccactgcattggcgacagaCggtggggacccacaggacaa	14	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:113168502C>T	uc010mtz.3	-	37	9715	c.9378G>A	c.(9376-9378)ccG>ccA	p.P3126P	SVEP1_uc010mty.3_Silent_p.P1052P	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3126	Sushi 29.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGCGACAGACGGTGGGGACC	0.527													T	113168502	C	T	113168502	2	4	4	1	0	0	0	0	0	0	0	1	15417	523	19	1		1	SVEP1	9	113168502	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	269441	113168502	28044929	2301	4366											
SVEP1	79987	broad.mit.edu	37	chr9	113241982	113241982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctgtgtcatcacaacgaGctgctttgtagaacatctca	8	10	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:113241982G>A	uc010mtz.3	-	12	2757	c.2420C>T	c.(2419-2421)gCt>gTt	p.A807V	SVEP1_uc010mua.1_Missense_Mutation_p.A807V|SVEP1_uc004beu.2_Missense_Mutation_p.A807V	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	807					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.A807G(2)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATCACAACGAGCTGCTTTGTA	0.383													A	113241982	G	A	113241982	3	1	4	1	0	0	0	0	1	0	0	0	15417	971	34	2	8439	2	SVEP1	9	113241982	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	73480	113241982	27971449	2302	4367											
LPAR1	1902	broad.mit.edu	37	chr9	113637839	113637839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatctgcctaaaggtggcGctcatttctttgtcgcggta	12	9	3	0	rs61753623	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:113637839G>A	uc011lwo.2	-	2	962	c.960C>T	c.(958-960)agC>agT	p.S320S	LPAR1_uc004bfa.3_Silent_p.S319S|LPAR1_uc011lwm.2_Silent_p.S320S|LPAR1_uc004bfc.3_Silent_p.S319S|LPAR1_uc011lwn.2_Silent_p.S301S|LPAR1_uc004bfb.3_Silent_p.S319S|LPAR1_uc010mub.3_Silent_p.S319S	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	319					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		p.A320V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TAAAGGTGGCGCTCATTTCTT	0.552													A	113637839	G	A	113637839	2	1	4	1	0	0	0	0	0	0	0	1	8904	1078	38	1		1	LPAR1	9	113637839	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	395857	113637839	27575592	2303	4368											
LPAR1	1902	broad.mit.edu	37	chr9	113704425	113704425	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggactcgttgtagaagcaCtgtggttcattcatggctgt	12	7	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:113704425C>A	uc011lwo.2	-	1	74	c.72G>T	c.(70-72)caG>caT	p.Q24H	LPAR1_uc004bfa.3_Missense_Mutation_p.Q23H|LPAR1_uc011lwm.2_Missense_Mutation_p.Q24H|LPAR1_uc004bfc.3_Missense_Mutation_p.Q23H|LPAR1_uc011lwn.2_Missense_Mutation_p.Q5H|LPAR1_uc004bfb.3_Missense_Mutation_p.Q23H|LPAR1_uc010mub.3_Missense_Mutation_p.Q23H	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	23					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TGTAGAAGCACTGTGGTTCAT	0.403													A	113704425	C	A	113704425	3	1	4	1	0	0	0	0	1	0	0	0	8904	564	20	5	1033	5	LPAR1	9	113704425	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	66586	113704425	27509006	2304	4369											
KIAA1958	158405	broad.mit.edu	37	chr9	115336875	115336875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcctcaaagcattgctcGcaaaagacctggggtagtcc	11	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:115336875G>A	uc011lwx.1	+	1	690	c.515G>A	c.(514-516)cGc>cAc	p.R172H	KIAA1958_uc004bgf.1_Missense_Mutation_p.R172H	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	172										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AGCATTGCTCGCAAAAGACCT	0.458													A	115336875	G	A	115336875	3	1	4	1	0	0	0	0	1	0	0	0	8264	1087	38	1	517	1	KIAA1958	9	115336875	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1632450	115336875	25876556	2305	4370											
C9orf80	58493	broad.mit.edu	37	chr9	115456516	115456516	+	Splice_Site	DEL	A	A	-													tatttttgttttgaaaacctAaaaaaaagaggggaatagga							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:115456515_115456515TA>T	uc004bgg.3	-	3	203	c.26_splice	c.e3-1	p.G9_splice	C9orf80_uc010muk.3_Splice_Site	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN	Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA.	9					DNA repair|response to ionizing radiation	SOSS complex	protein binding	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	4						TTTGAAAACCTAAAAAAAAGA	0.348													-	115456516	A	-	115456516	8	5	4	1	0	1	0	1	0	0	1	0	2498	377	13	0		0	C9orf80	9	115456516	Splice_Site	DEL	A	TCGA-BR-4184-01A-01D-1126-08	119641	115456516	25756915	2306	4371											
FKBP15	23307	broad.mit.edu	37	chr9	115959248	115959248	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaacaccaggatcgagtcCgttgcttgagtccagcctat	10	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:115959248C>T	uc004bgs.2	-	8	981	c.828G>A	c.(826-828)acG>acA	p.T276T	FKBP15_uc010muu.1_Silent_p.T340T|FKBP15_uc011lxd.1_Silent_p.T208T|FKBP15_uc010mut.1_Silent_p.T144T|FKBP15_uc004bgt.2_Silent_p.T276T	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	276	PPIase FKBP-type.				endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GGATCGAGTCCGTTGCTTGAG	0.498													T	115959248	C	T	115959248	2	4	4	1	0	0	0	0	0	0	0	1	5905	639	23	1		1	FKBP15	9	115959248	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	502732	115959248	25254183	2307	4372											
PRPF4	9128	broad.mit.edu	37	chr9	116053015	116053015	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtcgagtttgggacctacGcacaggacgttgtatcatgt	13	8	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:116053015G>T	uc004bgx.3	+	11	1294	c.1184G>T	c.(1183-1185)cGc>cTc	p.R395L	PRPF4_uc004bgy.3_Missense_Mutation_p.R394L	NM_004697	NP_004688	O43172	PRP4_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog (yeast) (PRPF4), transcript variant 1, mRNA.	395						Cajal body|U4/U6 snRNP|nuclear speck|spliceosomal complex	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						TGGGACCTACGCACAGGACGT	0.423													T	116053015	G	T	116053015	3	4	4	1	0	0	0	0	1	0	0	0	12570	1087	38	5	1230	5	PRPF4	9	116053015	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	93767	116053015	25160416	2308	4373											
BSPRY	54836	broad.mit.edu	37	chr9	116130628	116130628	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggagcccactactgacccAactctgggcaacggcggttc	11	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:116130628A>G	uc004bhg.4	+	4	695	c.647A>G	c.(646-648)cAa>cGa	p.Q216R	BSPRY_uc010muw.3_Intron	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN	Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA.	216	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CTACTGACCCAACTCTGGGCA	0.527													G	116130628	A	G	116130628	3	3	4	1	0	0	0	0	1	0	0	0	1532	130	5	3	665	3	BSPRY	9	116130628	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	77613	116130628	25082803	2309	4374											
ZNF618	114991	broad.mit.edu	37	chr9	116812207	116812207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaggcaaaaatgaagtgtaCgattacctgcaggagcccct	10	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:116812207C>T	uc004bid.3	+	14	2724	c.2625C>T	c.(2623-2625)taC>taT	p.Y875Y	ZNF618_uc004bic.3_Silent_p.Y782Y|ZNF618_uc011lxi.2_Silent_p.Y842Y|ZNF618_uc011lxj.2_Silent_p.Y843Y|ZNF618_uc010mvb.3_Silent_p.Y465Y	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	875					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						ATGAAGTGTACGATTACCTGC	0.577													T	116812207	C	T	116812207	2	4	4	1	0	0	0	0	0	0	0	1	18039	547	19	1		1	ZNF618	9	116812207	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	681579	116812207	24401224	2310	4375											
COL27A1	85301	broad.mit.edu	37	chr9	116930298	116930298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcgacatgcacgacgggCgctggcaccacctggccctc	11	18	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:116930298C>T	uc011lxl.2	+	2	463	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Missense_Mutation_p.R5C	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	155	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCACGACGGGCGCTGGCACCA	0.697													T	116930298	C	T	116930298	3	4	4	1	0	0	0	0	1	0	0	0	3685	768	27	1	473	1	COL27A1	9	116930298	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	118091	116930298	24283133	2311	4376											
COL27A1	85301	broad.mit.edu	37	chr9	117070050	117070050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtctcaagcccatcacgGcctccaaggtacccatcagc	8	17	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:117070050G>A	uc011lxl.2	+	58	5209	c.5209G>A	c.(5209-5211)Gcc>Acc	p.A1737T	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc011lxn.2_Missense_Mutation_p.A52T	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1737	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCCATCACGGCCTCCAAGGT	0.587													A	117070050	G	A	117070050	3	1	4	1	0	0	0	0	1	0	0	0	3685	1203	42	2	5443	2	COL27A1	9	117070050	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	139752	117070050	24143381	2312	4377											
TNC	3371	broad.mit.edu	37	chr9	117804613	117804613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatgacttcctttggggaGcccatggctgtcaagaagaa	11	8	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:117804613G>A	uc004bjj.4	-	17	5545	c.5133C>T	c.(5131-5133)ggC>ggT	p.G1711G	TNC_uc010mvf.3_Silent_p.G1438G|TNC_uc022bmj.1_Silent_p.G1348G	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1711	Fibronectin type-III 13.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTTTGGGGAGCCCATGGCTG	0.463													A	117804613	G	A	117804613	2	1	4	1	0	0	0	0	0	0	0	1	16267	958	34	2		2	TNC	9	117804613	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	734563	117804613	23408818	2313	4378											
PAPPA	5069	broad.mit.edu	37	chr9	119124887	119124887	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagggacttgggagcaatgTcattcattgccggaaagatg	13	7	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:119124887T>C	uc004bjn.3	+	17	4745	c.4364T>C	c.(4363-4365)gTc>gCc	p.V1455A	PAPPA_uc011lxq.2_Missense_Mutation_p.V830A	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1455	Sushi 4.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGGAGCAATGTCATTCATTGC	0.488													C	119124887	T	C	119124887	3	2	4	1	0	0	0	0	1	0	0	0	11432	1667	58	3	4434	3	PAPPA	9	119124887	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1320274	119124887	22088544	2314	4379											
ASTN2	23245	broad.mit.edu	37	chr9	119488134	119488134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctctgagccatagagggCctctgcgatgtagtgggagc	16	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:119488134C>T	uc004bjt.2	-	14	2670	c.2569G>A	c.(2569-2571)Gcc>Acc	p.A857T	ASTN2_uc022bml.1_Missense_Mutation_p.A553T|ASTN2_uc022bmm.1_Missense_Mutation_p.A557T	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	908						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCATAGAGGGCCTCTGCGATG	0.557													T	119488134	C	T	119488134	3	4	4	1	0	0	0	0	1	0	0	0	1065	739	26	2	1561	2	ASTN2	9	119488134	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	363247	119488134	21725297	2315	4380											
ASTN2	23245	broad.mit.edu	37	chr9	119976705	119976705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagtgtgggtcacctggCtgccaaactcgtcctcgcgg	13	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:119976705C>T	uc004bjt.2	-	2	1048	c.947G>A	c.(946-948)aGc>aAc	p.S316N	ASTN2_uc022bml.1_5'UTR|ASTN2_uc022bmm.1_5'UTR	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	316						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGTCACCTGGCTGCCAAACTC	0.577													T	119976705	C	T	119976705	3	4	4	1	0	0	0	0	1	0	0	0	1065	797	28	2	3231	2	ASTN2	9	119976705	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	488571	119976705	21236726	2316	4381											
TLR4	7099	broad.mit.edu	37	chr9	120476537	120476537	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agctctgccttcactacagaGactttattcccggtgtggcc	9	13	2	1	rs56225594		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:120476537G>T	uc004bjz.3	+	2	2422	c.2131G>T	c.(2131-2133)Gac>Tac	p.D711Y	TLR4_uc004bkb.3_Missense_Mutation_p.D511Y|TLR4_uc004bka.3_Missense_Mutation_p.D671Y	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	711	TIR.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.D711Y(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TCACTACAGAGACTTTATTCC	0.468													T	120476537	G	T	120476537	3	4	4	1	0	0	0	0	1	0	0	0	15950	942	33	5	2141	5	TLR4	9	120476537	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	499832	120476537	20736894	2317	4382											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123220813	123220813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttctaggcagccaggtgCgtgggccccatcacaatctg	11	13	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:123220813C>T	uc004bkf.3	-	19	2471	c.2290G>A	c.(2290-2292)Gca>Aca	p.A764T	CDK5RAP2_uc004bke.3_Missense_Mutation_p.A49T|CDK5RAP2_uc004bkg.3_Missense_Mutation_p.A764T|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.A29T|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.A29T|CDK5RAP2_uc011lya.2_Missense_Mutation_p.A29T|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.3_Missense_Mutation_p.A531T	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	764					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	p.H763H(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CAGCCAGGTGCGTGGGCCCCA	0.458													T	123220813	C	T	123220813	3	4	4	1	0	0	0	0	1	0	0	0	3146	768	27	1	3467	1	CDK5RAP2	9	123220813	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2744276	123220813	17992618	2318	4383											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123308012	123308012	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggctttgatgagcagctgCtctctctcctggagttcccg	12	12	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:123308012C>A	uc004bkf.3	-	4	544	c.363G>T	c.(361-363)gaG>gaT	p.E121D	CDK5RAP2_uc004bkg.3_Missense_Mutation_p.E121D|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.E121D	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	121					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGAGCAGCTGCTCTCTCTCCT	0.433													A	123308012	C	A	123308012	3	1	4	1	0	0	0	0	1	0	0	0	3146	796	28	5	5454	5	CDK5RAP2	9	123308012	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	87199	123308012	17905419	2319	4384											
PSMD5	5711	broad.mit.edu	37	chr9	123594201	123594201	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaatctcagtaacagcatcaGaattttcaacaattcttcca	4	10	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:123594201G>A	uc004bko.3	-	2	360	c.341C>T	c.(340-342)tCt>tTt	p.S114F	PSMD5_uc011lye.2_Missense_Mutation_p.S114F	NM_005047	NP_005038	Q16401	PSMD5_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 (PSMD5), mRNA.	114					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome complex	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						AACAGCATCAGAATTTTCAAC	0.348													A	123594201	G	A	123594201	3	1	4	1	0	0	0	0	1	0	0	0	12701	942	33	4	1205	4	PSMD5	9	123594201	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	286189	123594201	17619230	2320	4385											
C5	727	broad.mit.edu	37	chr9	123769199	123769199	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taccagtgtttgaaatgccaAcgccttgaatttcccaggtg	9	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:123769199A>C	uc004bkv.3	-	18	2435	c.2405T>G	c.(2404-2406)gTt>gGt	p.V802G	C5_uc010mvm.1_Missense_Mutation_p.V802G	NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	802			V -> I (in dbSNP:rs17611).		G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TGAAATGCCAACGCCTTGAAT	0.328													C	123769199	A	C	123769199	3	2	4	1	0	0	0	0	1	0	0	0	2280	43	2	5	2717	5	C5	9	123769199	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	174998	123769199	17444232	2321	4386											
RAB14	51552	broad.mit.edu	37	chr9	123952946	123952946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcagttttattttttggCcactaacttcgattattctt	5	8	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:123952946C>T	uc004blc.3	-	3	626	c.170G>A	c.(169-171)gGc>gAc	p.G57D		NM_016322	NP_057406	P61106	RAB14_HUMAN	Homo sapiens RAB14, member RAS oncogene family (RAB14), mRNA.	57					Golgi to endosome transport|embryo development|fibroblast growth factor receptor signaling pathway|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	Golgi membrane|Golgi stack|cytosol|early endosome membrane|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TATTTTTTGGCCACTAACTTC	0.428													T	123952946	C	T	123952946	3	4	4	1	0	0	0	0	1	0	0	0	12900	739	26	2	497	2	RAB14	9	123952946	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	183747	123952946	17260485	2322	4387											
GSN	2934	broad.mit.edu	37	chr9	124064372	124064372	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggagacttcttcacgggCgacgcctacgtcatcctgaa	10	12	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:124064372C>T	uc004blf.1	+	1	337	c.276C>T	c.(274-276)ggC>ggT	p.G92G	GSN_uc004bld.1_Silent_p.G41G|GSN_uc010mvr.1_Silent_p.G52G|GSN_uc010mvq.1_Silent_p.G52G|GSN_uc010mvu.1_Silent_p.G41G|GSN_uc010mvt.1_Silent_p.G41G|GSN_uc010mvs.1_Silent_p.G41G|GSN_uc004ble.1_Silent_p.G41G|GSN_uc010mvv.1_Silent_p.G41G|GSN_uc011lyh.1_Silent_p.G58G|GSN_uc011lyi.1_Silent_p.G41G|GSN_uc011lyj.1_Silent_p.G65G	NM_000177	NP_000168	P06396	GELS_HUMAN	Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.	92	Actin-severing (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	p.G41G(1)|p.G92G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TCTTCACGGGCGACGCCTACG	0.602													T	124064372	C	T	124064372	2	4	4	1	0	0	0	0	0	0	0	1	6825	755	27	1		1	GSN	9	124064372	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	111426	124064372	17149059	2323	4388											
DAB2IP	153090	broad.mit.edu	37	chr9	124522353	124522353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacaacttgccgcctctgCgcacggtcactgtccacctg	8	18	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:124522353C>T	uc004bln.3	+	5	790	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	DAB2IP_uc004blo.3_Missense_Mutation_p.R145C	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	269	C2.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GCCGCCTCTGCGCACGGTCAC	0.602													T	124522353	C	T	124522353	3	4	4	1	0	0	0	0	1	0	0	0	4219	768	27	1	743	1	DAB2IP	9	124522353	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	457981	124522353	16691078	2324	4389											
DAB2IP	153090	broad.mit.edu	37	chr9	124528868	124528868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgagcggctcatcagcgCctccctcttcctgcgcttcc	9	18	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:124528868C>T	uc004bln.3	+	8	1541	c.1472C>T	c.(1471-1473)gCc>gTc	p.A491V	DAB2IP_uc004blo.3_Missense_Mutation_p.A395V|DAB2IP_uc004blp.3_5'Flank	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	519	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CTCATCAGCGCCTCCCTCTTC	0.632													T	124528868	C	T	124528868	3	4	4	1	0	0	0	0	1	0	0	0	4219	739	26	2	1506	2	DAB2IP	9	124528868	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	6515	124528868	16684563	2325	4390											
LHX6	26468	broad.mit.edu	37	chr9	124975917	124975917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcagggtgaccatgcgcGcccgctcggggctgctgaac	16	14	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:124975917G>A	uc004blx.4	-	7	1094	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	LHX6_uc022bmw.1_Missense_Mutation_p.A125V|LHX6_uc010mvw.3_Missense_Mutation_p.A312V|LHX6_uc022bmx.1_Missense_Mutation_p.A330V|LHX6_uc004bly.4_Missense_Mutation_p.A341V	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN	Homo sapiens LIM homeobox 6 (LHX6), transcript variant 1, mRNA.	312					cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A341V(3)		endometrium(2)|kidney(1)|large_intestine(5)	8						GACCATGCGCGCCCGCTCGGG	0.736													A	124975917	G	A	124975917	3	1	4	1	0	0	0	0	1	0	0	0	8775	1087	38	1	227	1	LHX6	9	124975917	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	447049	124975917	16237514	2326	4391											
PTGS1	5742	broad.mit.edu	37	chr9	125140215	125140215	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatccatgccagcaccagggCatctgtgtccgcttcggcct	10	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:125140215C>A	uc004bmg.1	+	2	267	c.132C>A	c.(130-132)ggC>ggA	p.G44G	PTGS1_uc011lys.1_Silent_p.G19G|PTGS1_uc010mwb.1_5'UTR|PTGS1_uc004bmf.1_Silent_p.G44G|PTGS1_uc004bmh.1_5'UTR|PTGS1_uc011lyt.1_5'UTR	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	44	EGF-like.				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	AGCACCAGGGCATCTGTGTCC	0.607													A	125140215	C	A	125140215	2	1	4	1	0	0	0	0	0	0	0	1	12755	697	25	5		5	PTGS1	9	125140215	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	164298	125140215	16073216	2327	4392											
PTGS1	5742	broad.mit.edu	37	chr9	125143979	125143979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatggagacaatctggagCgtcagtatcaactgcggctc	11	9	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:125143979C>T	uc004bmg.1	+	6	850	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C	PTGS1_uc011lys.1_Missense_Mutation_p.R214C|PTGS1_uc010mwb.1_Missense_Mutation_p.R130C|PTGS1_uc004bmf.1_Missense_Mutation_p.R239C|PTGS1_uc004bmh.1_Missense_Mutation_p.R130C|PTGS1_uc011lyt.1_Missense_Mutation_p.R130C	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	239					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	CAATCTGGAGCGTCAGTATCA	0.587													T	125143979	C	T	125143979	3	4	4	1	0	0	0	0	1	0	0	0	12755	768	27	1	741	1	PTGS1	9	125143979	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3764	125143979	16069452	2328	4393											
OR1L1	26737	broad.mit.edu	37	chr9	125424697	125424697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccttcagctgctggaaagCgtaaagcattttctacctgt	8	10	2	0	rs78370954		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:125424697C>T	uc022bmz.1	+	0	703	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TGCTGGAAAGCGTAAAGCATT	0.428													T	125424697	C	T	125424697	3	4	4	1	0	0	0	0	1	0	0	0	10963	768	27	1	705	1	OR1L1	9	125424697	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	280718	125424697	15788734	2329	4394											
ZBTB26	57684	broad.mit.edu	37	chr9	125681251	125681251	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggaaaggtttaattccGgcatgcacacgcatgtgtcg	11	10	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:125681251G>A	uc004bnk.3	-	1	1037	c.963C>T	c.(961-963)gcC>gcT	p.A321A	ZBTB26_uc004bnj.3_Silent_p.A321A|ZBTB26_uc022bnc.1_Silent_p.A321A	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN	Homo sapiens zinc finger and BTB domain containing 26 (ZBTB26), mRNA.	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A321V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						GTTTAATTCCGGCATGCACAC	0.428													A	125681251	G	A	125681251	2	1	4	1	0	0	0	0	0	0	0	1	17530	1103	39	1		1	ZBTB26	9	125681251	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	256554	125681251	15532180	2330	4395											
STRBP	55342	broad.mit.edu	37	chr9	125898431	125898431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttcttatttggacctgcGcctctgaatttctgtccatc	6	12	3	1	rs141839908		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:125898431G>A	uc004bns.3	-	15	2104	c.1662C>T	c.(1660-1662)ggC>ggT	p.G554G	STRBP_uc004bnt.3_Silent_p.G372G|STRBP_uc004bnu.3_Silent_p.G540G|STRBP_uc004bnv.3_Silent_p.G554G	NM_018387	NP_001164608	Q96SI9	STRBP_HUMAN	Homo sapiens spermatid perinuclear RNA binding protein (STRBP), transcript variant 1, mRNA.	554	DRBM 2.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						TTGGACCTGCGCCTCTGAATT	0.388													A	125898431	G	A	125898431	2	1	4	1	0	0	0	0	0	0	0	1	15326	1074	38	1		1	STRBP	9	125898431	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	217180	125898431	15315000	2331	4396											
STRBP	55342	broad.mit.edu	37	chr9	125941475	125941475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtttcaccataacatggCgatcatcattagcaaaagat	6	8	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:125941475C>T	uc004bns.3	-	3	477	c.35G>A	c.(34-36)cGc>cAc	p.R12H	STRBP_uc004bnt.3_5'UTR|STRBP_uc004bnu.3_5'UTR|STRBP_uc004bnv.3_Missense_Mutation_p.R12H	NM_018387	NP_001164608	Q96SI9	STRBP_HUMAN	Homo sapiens spermatid perinuclear RNA binding protein (STRBP), transcript variant 1, mRNA.	12					multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CATAACATGGCGATCATCATT	0.358													T	125941475	C	T	125941475	3	4	4	1	0	0	0	0	1	0	0	0	15326	768	27	1	2047	1	STRBP	9	125941475	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	43044	125941475	15271956	2332	4397											
CRB2	286204	broad.mit.edu	37	chr9	126132504	126132504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagagacctggggtgggcGcgactgttctgtgcagctca	15	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:126132504G>A	uc004bnx.1	+	6	1264	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H	CRB2_uc004bnw.1_Missense_Mutation_p.R391H	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	391	EGF-like 8; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGGGGTGGGCGCGACTGTTCT	0.627													A	126132504	G	A	126132504	3	1	4	1	0	0	0	0	1	0	0	0	3849	1087	38	1	1198	1	CRB2	9	126132504	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	191029	126132504	15080927	2333	4398											
CRB2	286204	broad.mit.edu	37	chr9	126132729	126132729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtctggcactgaggtttcGcaccacactgcccgctggga	14	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:126132729G>A	uc004bnx.1	+	6	1489	c.1397G>A	c.(1396-1398)cGc>cAc	p.R466H	CRB2_uc004bnw.1_Missense_Mutation_p.R466H	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	466	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTGAGGTTTCGCACCACACTG	0.612													A	126132729	G	A	126132729	3	1	4	1	0	0	0	0	1	0	0	0	3849	1087	38	1	1423	1	CRB2	9	126132729	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	225	126132729	15080702	2334	4399											
CRB2	286204	broad.mit.edu	37	chr9	126133829	126133829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtcctggaacctcactgCgggctgcgtctccgaggaca	13	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:126133829C>T	uc004bnx.1	+	7	2500	c.2408C>T	c.(2407-2409)gCg>gTg	p.A803V	CRB2_uc004bnw.1_Missense_Mutation_p.A803V	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	803	Laminin G-like 2.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						AACCTCACTGCGGGCTGCGTC	0.632													T	126133829	C	T	126133829	3	4	4	1	0	0	0	0	1	0	0	0	3849	768	27	1	2438	1	CRB2	9	126133829	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1100	126133829	15079602	2335	4400											
LHX2	9355	broad.mit.edu	37	chr9	126777465	126777465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcctcggagatggtgatgCgcgctcgggacttggtttat	16	9	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:126777465C>T	uc010mwi.1	+	2	1151	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	LHX2_uc004boe.1_Missense_Mutation_p.R130C	NM_004789	NP_004780	P50458	LHX2_HUMAN	Homo sapiens LIM homeobox 2 (LHX2), mRNA.	130	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						GATGGTGATGCGCGCTCGGGA	0.622													T	126777465	C	T	126777465	3	4	4	1	0	0	0	0	1	0	0	0	8771	768	27	1	398	1	LHX2	9	126777465	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	643636	126777465	14435966	2336	4401											
OLFML2A	169611	broad.mit.edu	37	chr9	127572560	127572560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacgcacacgggcaccgacGcacgcccccagctgccgttc	10	20	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:127572560G>A	uc004bov.3	+	7	1941	c.1828G>A	c.(1828-1830)Gca>Aca	p.A610T	OLFML2A_uc004bow.3_Missense_Mutation_p.A396T	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	610	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GGGCACCGACGCACGCCCCCA	0.632													A	127572560	G	A	127572560	3	1	4	1	0	0	0	0	1	0	0	0	10857	1087	38	1	1858	1	OLFML2A	9	127572560	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	795095	127572560	13640871	2337	4402											
MAPKAP1	79109	broad.mit.edu	37	chr9	128434766	128434766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatcatgatcaatgagaaCcatctcacacattcccgtgt	5	12	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:128434766C>T	uc004bpv.3	-	1	421	c.88G>A	c.(88-90)Gtt>Att	p.V30I	MAPKAP1_uc004bpw.3_Intron|MAPKAP1_uc004bpx.3_Intron|MAPKAP1_uc004bpy.3_Missense_Mutation_p.V30I|MAPKAP1_uc004bpz.3_Missense_Mutation_p.V30I|MAPKAP1_uc010mxa.3_Non-coding_Transcript|MAPKAP1_uc004bqa.3_Missense_Mutation_p.V30I	NM_001006617	NP_001006622	Q9BPZ7	SIN1_HUMAN	Homo sapiens mitogen-activated protein kinase associated protein 1 (MAPKAP1), transcript variant 1, mRNA.	30	Interaction with MAP3K2.				T cell costimulation|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TCAATGAGAACCATCTCACAC	0.468													T	128434766	C	T	128434766	3	4	4	1	0	0	0	0	1	0	0	0	9288	507	18	4	1542	4	MAPKAP1	9	128434766	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	862206	128434766	12778665	2338	4403											
STXBP1	6812	broad.mit.edu	37	chr9	130430453	130430453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgcgccacaagcacatcGcagaggtgtcccagtaagag	11	13	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:130430453G>A	uc004brk.2	+	9	1086	c.889G>A	c.(889-891)Gca>Aca	p.A297T	STXBP1_uc004brl.2_Missense_Mutation_p.A297T	NM_003165	NP_003156	P61764	STXB1_HUMAN	Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA.	297					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	p.A297T(6)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CAAGCACATCGCAGAGGTGTC	0.632													A	130430453	G	A	130430453	3	1	4	1	0	0	0	0	1	0	0	0	15351	1087	38	1	927	1	STXBP1	9	130430453	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1995687	130430453	10782978	2339	4404											
ODF2	4957	broad.mit.edu	37	chr9	131262457	131262457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcctcaaatcatcatacGccaacgtgtttggggatggt	10	9	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:131262457G>A	uc004bvc.3	+	20	2691	c.2605G>A	c.(2605-2607)Gcc>Acc	p.A869T	ODF2_uc004bvb.3_Missense_Mutation_p.A781T|ODF2_uc011mbd.2_Missense_Mutation_p.A805T|ODF2_uc011mbe.2_Missense_Mutation_p.A800T|ODF2_uc004bvd.4_Missense_Mutation_p.A805T|ODF2_uc004bvh.3_Missense_Mutation_p.A211T	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	805					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	p.A781T(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ATCATCATACGCCAACGTGTT	0.577													A	131262457	G	A	131262457	3	1	4	1	0	0	0	0	1	0	0	0	10827	1087	38	1	2609	1	ODF2	9	131262457	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	832004	131262457	9950974	2340	4405											
PKN3	29941	broad.mit.edu	37	chr9	131475831	131475831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactggcggcagctatgtggCgtggccttcctgagacttga	15	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:131475831C>T	uc004bvw.3	+	8	1539	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	PKN3_uc010myh.3_Silent_p.G382G|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	382					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						AGCTATGTGGCGTGGCCTTCC	0.622													T	131475831	C	T	131475831	2	4	4	1	0	0	0	0	0	0	0	1	11981	755	27	1		1	PKN3	9	131475831	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	213374	131475831	9737600	2341	4406											
PKN3	29941	broad.mit.edu	37	chr9	131476578	131476578	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagctccccgagcacaatcaGcccccctaaaggatgccctc	7	19	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:131476578G>C	uc004bvw.3	+	10	1808	c.1415G>C	c.(1414-1416)aGc>aCc	p.S472T	PKN3_uc010myh.3_Missense_Mutation_p.S472T|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	472	Pro-rich.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						AGCACAATCAGCCCCCCTAAA	0.652													C	131476578	G	C	131476578	3	2	4	1	0	0	0	0	1	0	0	0	11981	971	34	5	1457	5	PKN3	9	131476578	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	747	131476578	9736853	2342	4407											
TBC1D13	54662	broad.mit.edu	37	chr9	131568288	131568288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctcgtctgctgcGccatgctcatgtgagtgcgg	11	15	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:131568288G>A	uc010myj.3	+	9	1192	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T	TBC1D13_uc010myk.3_Missense_Mutation_p.A232T|TBC1D13_uc010myl.3_Missense_Mutation_p.A176T	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	Homo sapiens TBC1 domain family, member 13 (TBC1D13), mRNA.	357						intracellular	Rab GTPase activator activity	p.C356C(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CGTCTGCTGCGCCATGCTCAT	0.622													A	131568288	G	A	131568288	3	1	4	1	0	0	0	0	1	0	0	0	15599	1087	38	1	1107	1	TBC1D13	9	131568288	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	91710	131568288	9645143	2343	4408											
LRRC8A	56262	broad.mit.edu	37	chr9	131671260	131671260	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgtgacctggagcgcaTcccccactccatcttcagcc	8	19	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:131671260T>A	uc004bwl.4	+	2	2071	c.1817T>A	c.(1816-1818)aTc>aAc	p.I606N	LRRC8A_uc010myp.3_Missense_Mutation_p.I606N|LRRC8A_uc010myq.3_Missense_Mutation_p.I606N	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	606					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTGGAGCGCATCCCCCACTCC	0.552													A	131671260	T	A	131671260	3	1	4	1	0	0	0	0	1	0	0	0	9021	1435	50	5	1819	5	LRRC8A	9	131671260	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	102972	131671260	9542171	2344	4409											
NUP188	23511	broad.mit.edu	37	chr9	131760467	131760467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgactctgtggtgcgtcGccagctctttcttgacgtgc	12	12	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:131760467G>A	uc004bws.1	+	30	3411	c.3389G>A	c.(3388-3390)cGc>cAc	p.R1130H	NUP188_uc004bwu.3_Missense_Mutation_p.R473H	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	1130					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTGGTGCGTCGCCAGCTCTTT	0.438													A	131760467	G	A	131760467	3	1	4	1	0	0	0	0	1	0	0	0	10758	1087	38	1	3511	1	NUP188	9	131760467	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	89207	131760467	9452964	2345	4410											
SH3GLB2	56904	broad.mit.edu	37	chr9	131777084	131777084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccccctccaggaagttgCgcaagggtgtgaggaagctg	15	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:131777084C>T	uc004bww.3	-	3	580	c.434G>A	c.(433-435)cGc>cAc	p.R145H	SH3GLB2_uc004bwv.3_Missense_Mutation_p.R145H	NM_020145	NP_064530	Q9NR46	SHLB2_HUMAN	Homo sapiens SH3-domain GRB2-like endophilin B2 (SH3GLB2), mRNA.	145	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	SH3 domain binding|cytoskeletal adaptor activity			NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						CAGGAAGTTGCGCAAGGGTGT	0.572													T	131777084	C	T	131777084	3	4	4	1	0	0	0	0	1	0	0	0	14254	768	27	1	785	1	SH3GLB2	9	131777084	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	16617	131777084	9436347	2346	4411											
TOR1B	27348	broad.mit.edu	37	chr9	132571788	132571788	+	Frame_Shift_Del	DEL	T	T	-													gagtggcagaggaaatgacgTttttccccagagacgagaaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:132571787_132571787GT>G	uc004byk.1	+	4	996	c.936_936GT>G	c.(934-936)acgfs	p.T312fs		NM_014506	NP_055321	O14657	TOR1B_HUMAN	Homo sapiens torsin family 1, member B (torsin B) (TOR1B), mRNA.	312					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding	p.M311T(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				AGGAAATGACGTTTTTCCCCA	0.512													-	132571788	T	-	132571788	7	5	4	1	0	1	0	1	0	0	0	0	16371	1725	60	0	955	0	TOR1B	9	132571788	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	794704	132571788	8641643	2347	4412											
USP20	10868	broad.mit.edu	37	chr9	132636952	132636952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgaggggctcgacctgcGccccttccttgccaaggagt	12	16	0	0	rs142714756	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:132636952G>A	uc004bys.2	+	17	2049	c.1838G>A	c.(1837-1839)cGc>cAc	p.R613H	USP20_uc004byr.2_Missense_Mutation_p.R613H|USP20_uc004byt.1_Missense_Mutation_p.R613H	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	613					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.R612S(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CTCGACCTGCGCCCCTTCCTT	0.592													A	132636952	G	A	132636952	3	1	4	1	0	0	0	0	1	0	0	0	17049	1087	38	1	1900	1	USP20	9	132636952	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	65164	132636952	8576479	2348	4413											
ASS1	445	broad.mit.edu	37	chr9	133339508	133339508	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcattgcaggggaacgatcAggtccggtttgagctcagct	14	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:133339508A>G	uc010mza.3	+	5	1110	c.602A>G	c.(601-603)cAg>cGg	p.Q201R	ASS1_uc004bzm.3_Missense_Mutation_p.Q125R|ASS1_uc004bzn.3_Missense_Mutation_p.Q125R	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	125					arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GGGAACGATCAGGTCCGGTTT	0.602													G	133339508	A	G	133339508	3	3	4	1	0	0	0	0	1	0	0	0	1061	188	7	3	388	3	ASS1	9	133339508	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	702556	133339508	7873923	2349	4414											
ABL1	25	broad.mit.edu	37	chr9	133738377	133738377	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacggggaggtgtacgagggCgtgtggaagaaatacagcct	17	6	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:133738377C>T	uc004bzw.3	+	3	780	c.777C>T	c.(775-777)ggC>ggT	p.G259G	ABL1_uc004bzv.3_Silent_p.G278G|AX748265_uc004bzx.1_5'Flank	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	259	Protein kinase.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding	p.E258V(1)|p.L248_K274del(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TGTACGAGGGCGTGTGGAAGA	0.627			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								T	133738377	C	T	133738377	2	4	4	1	0	0	0	0	0	0	0	1	92	755	27	1		1	ABL1	9	133738377	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	398869	133738377	7475054	2350	4415											
ABL1	25	broad.mit.edu	37	chr9	133759406	133759406	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgctccctcgaaaagagCgaggtcccccggagggcggc	14	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:133759406C>T	uc004bzw.3	+	10	1732	c.1729C>T	c.(1729-1731)Cga>Tga	p.R577*	ABL1_uc004bzv.3_Nonsense_Mutation_p.R596*	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	577					DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding	p.R577*(2)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TCGAAAAGAGCGAGGTCCCCC	0.537			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								T	133759406	C	T	133759406	4	4	4	1	0	0	0	0	0	1	0	0	92	760	27	1	1911	1	ABL1	9	133759406	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	21029	133759406	7454025	2351	4416											
ABL1	25	broad.mit.edu	37	chr9	133760767	133760767	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggcgccatcaccaagggCgtggtcctggacagcaccga	14	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:133760767C>T	uc004bzw.3	+	10	3093	c.3090C>T	c.(3088-3090)ggC>ggT	p.G1030G	ABL1_uc004bzv.3_Silent_p.G1049G	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	1030	F-actin-binding.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TCACCAAGGGCGTGGTCCTGG	0.632			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								T	133760767	C	T	133760767	2	4	4	1	0	0	0	0	0	0	0	1	92	755	27	1		1	ABL1	9	133760767	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1361	133760767	7452664	2352	4417											
LAMC3	10319	broad.mit.edu	37	chr9	133946996	133946996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggggacgtctaccagggCcatcacctgcttccaggtac	13	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:133946996C>T	uc004caa.1	+	17	3293	c.3195C>T	c.(3193-3195)ggC>ggT	p.G1065G		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	1065	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TCTACCAGGGCCATCACCTGC	0.657													T	133946996	C	T	133946996	2	4	4	1	0	0	0	0	0	0	0	1	8616	726	26	2		2	LAMC3	9	133946996	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	186229	133946996	7266435	2353	4418											
NUP214	8021	broad.mit.edu	37	chr9	134002952	134002952	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaaggtgagaatctttgaCtcccctgaggaattgcccaa	10	9	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:134002952C>A	uc004cag.3	+	1	198	c.87C>A	c.(85-87)gaC>gaA	p.D29E	NUP214_uc004cah.3_Missense_Mutation_p.D29E|NUP214_uc004caf.1_Missense_Mutation_p.D29E	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	29					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GAATCTTTGACTCCCCTGAGG	0.418			T	"DEK, SET, ABL1"	"AML, T-ALL"								A	134002952	C	A	134002952	3	1	4	1	0	0	0	0	1	0	0	0	10762	564	20	5	93	5	NUP214	9	134002952	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	55956	134002952	7210479	2354	4419											
NUP214	8021	broad.mit.edu	37	chr9	134004682	134004682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggctaaacagcaaaaacGcccatttgcctatcataagc	6	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:134004682G>A	uc004cag.3	+	3	521	c.410G>A	c.(409-411)cGc>cAc	p.R137H	NUP214_uc004cah.3_Missense_Mutation_p.R137H|NUP214_uc004caf.1_Missense_Mutation_p.R137H	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	137					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CAGCAAAAACGCCCATTTGCC	0.368			T	"DEK, SET, ABL1"	"AML, T-ALL"								A	134004682	G	A	134004682	3	1	4	1	0	0	0	0	1	0	0	0	10762	1087	38	1	424	1	NUP214	9	134004682	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1730	134004682	7208749	2355	4420											
NUP214	8021	broad.mit.edu	37	chr9	134019919	134019919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagcagccccaggccctgGcccatcaaccttctcttttg	7	17	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:134019919G>A	uc004cag.3	+	11	1658	c.1547G>A	c.(1546-1548)gGc>gAc	p.G516D	NUP214_uc004cah.3_Missense_Mutation_p.G516D|NUP214_uc004cai.3_5'UTR|NUP214_uc004caf.1_Missense_Mutation_p.G516D|NUP214_uc010mzf.3_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	516	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCAGGCCCTGGCCCATCAACC	0.562			T	"DEK, SET, ABL1"	"AML, T-ALL"								A	134019919	G	A	134019919	3	1	4	1	0	0	0	0	1	0	0	0	10762	1203	42	2	1593	2	NUP214	9	134019919	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	15237	134019919	7193512	2356	4421											
NTNG2	84628	broad.mit.edu	37	chr9	135114555	135114555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgaatgtggtgacctgCgtcagctgcaagcacaacac	10	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:135114555C>T	uc004cbh.2	+	5	1895	c.1119C>T	c.(1117-1119)tgC>tgT	p.C373C		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	373	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TGGTGACCTGCGTCAGCTGCA	0.587													T	135114555	C	T	135114555	2	4	4	1	0	0	0	0	0	0	0	1	10705	776	27	1		1	NTNG2	9	135114555	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1094636	135114555	6098876	2357	4422											
SETX	23064	broad.mit.edu	37	chr9	135203175	135203175	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgacgaaatttctttggCggcactatagcaggagttgt	11	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:135203175C>T	uc004cbk.3	-	9	3993	c.3810G>A	c.(3808-3810)ccG>ccA	p.P1270P	SETX_uc004cbj.3_Silent_p.P889P|SETX_uc010mzt.3_Silent_p.P889P	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1270					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.P1270Q(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATTTCTTTGGCGGCACTATAG	0.433													T	135203175	C	T	135203175	2	4	4	1	0	0	0	0	0	0	0	1	14141	755	27	1		1	SETX	9	135203175	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	88620	135203175	6010256	2358	4423											
TTF1	7270	broad.mit.edu	37	chr9	135275547	135275547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacggcagaacccaaatccGcatctgaatcatcggcatct	7	14	4	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:135275547G>A	uc004cbl.3	-	2	1535	c.1466C>T	c.(1465-1467)gCg>gTg	p.A489V	TTF1_uc004cbm.3_5'UTR|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	489					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACCCAAATCCGCATCTGAATC	0.463													A	135275547	G	A	135275547	3	1	4	1	0	0	0	0	1	0	0	0	16715	1087	38	1	1287	1	TTF1	9	135275547	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	72372	135275547	5937884	2359	4424											
DDX31	64794	broad.mit.edu	37	chr9	135487616	135487616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctccctggggtaggtggCgtaggcttggatgaaggact	17	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:135487616C>T	uc004cbq.1	-	18	2319	c.2167G>A	c.(2167-2169)Gcc>Acc	p.A723T	DDX31_uc010mzu.1_Missense_Mutation_p.A650T	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	723						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GGGTAGGTGGCGTAGGCTTGG	0.587													T	135487616	C	T	135487616	3	4	4	1	0	0	0	0	1	0	0	0	4356	768	27	1	396	1	DDX31	9	135487616	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	212069	135487616	5725815	2360	4425											
TSC1	7248	broad.mit.edu	37	chr9	135797351	135797351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggacgagatagacttccGccacgtggcctagaaaagga	13	9	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:135797351G>A	uc004cca.2	-	6	752	c.518C>T	c.(517-519)gCg>gTg	p.A173V	TSC1_uc004ccb.3_Missense_Mutation_p.A173V|TSC1_uc011mcq.1_Missense_Mutation_p.A122V|TSC1_uc011mcr.2_Missense_Mutation_p.A52V|TSC1_uc011mcs.1_Missense_Mutation_p.A52V|TSC1_uc004ccc.1_Missense_Mutation_p.A173V|TSC1_uc004cce.1_Missense_Mutation_p.A173V	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	173					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ATAGACTTCCGCCACGTGGCC	0.488			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				A	135797351	G	A	135797351	3	1	4	1	0	0	0	0	1	0	0	0	16602	1087	38	1	3044	1	TSC1	9	135797351	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	309735	135797351	5416080	2361	4426											
TSC1	7248	broad.mit.edu	37	chr9	135804209	135804209	+	Frame_Shift_Del	DEL	G	G	-													tcgtcccgcacacccagcatGggggagtccagcatggcaag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:135804208_135804208TG>T	uc004cca.2	-	2	286	c.52_52CA>A	c.(52-54)atgfs	p.M18fs	TSC1_uc004ccb.3_Frame_Shift_Del_p.M18fs|TSC1_uc011mcq.1_Frame_Shift_Del_p.M18fs|TSC1_uc011mcr.2_Intron|TSC1_uc011mcs.1_5'UTR|TSC1_uc004ccc.1_Frame_Shift_Del_p.M18fs|TSC1_uc004cce.1_Frame_Shift_Del_p.M18fs	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	18					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ACACCCAGCATGGGGGAGTCC	0.502			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				-	135804209	G	-	135804209	7	5	4	1	0	1	0	1	0	0	0	0	16602	1335	47	0	3527	0	TSC1	9	135804209	Frame_Shift_Del	DEL	G	TCGA-BR-4184-01A-01D-1126-08	6858	135804209	5409222	2362	4427											
GTF3C5	9328	broad.mit.edu	37	chr9	135931464	135931464	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgttctaccagttatgCgacttgaatgtggaagagta	11	6	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:135931464C>T	uc004ccj.4	+	9	1591	c.1254C>T	c.(1252-1254)tgC>tgT	p.C418C	GTF3C5_uc004cci.4_Silent_p.C411C	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	411						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		ACCAGTTATGCGACTTGAATG	0.572													T	135931464	C	T	135931464	2	4	4	1	0	0	0	0	0	0	0	1	6876	776	27	1		1	GTF3C5	9	135931464	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	127255	135931464	5281967	2363	4428											
RALGDS	5900	broad.mit.edu	37	chr9	135982604	135982604	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtggcgcggatggtgggCgccaggtgctccttgccctt	16	12	0	0	rs139454388		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:135982604C>T	uc004cco.3	-	6	1301	c.1281G>A	c.(1279-1281)gcG>gcA	p.A427A	RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Silent_p.A415A|RALGDS_uc004ccr.3_Silent_p.A426A|RALGDS_uc011mcv.2_Silent_p.A398A|RALGDS_uc004ccs.3_Silent_p.A372A|RALGDS_uc011mcw.2_Silent_p.A498A|RALGDS_uc004ccv.1_Silent_p.A196A|RALGDS_uc004ccu.1_Silent_p.A196A	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	427	Ras-GEF.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GGATGGTGGGCGCCAGGTGCT	0.617			T	CIITA	"PMBL, Hodgkin Lymphona, "								T	135982604	C	T	135982604	2	4	4	1	0	0	0	0	0	0	0	1	13016	755	27	1		1	RALGDS	9	135982604	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	51140	135982604	5230827	2364	4429											
C9orf96	169436	broad.mit.edu	37	chr9	136256456	136256456	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaacccacctcttggtttcaGgaatctcaaaccctccaaca	4	15	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:136256456G>T	uc004cdk.3	+	7	529	c.468_splice	c.e7-1	p.R156_splice	C9orf96_uc004cdl.3_Intron	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	Homo sapiens chromosome 9 open reading frame 96 (C9orf96), mRNA.	156	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTTGGTTTCAGGAATCTCAAA	0.542													T	136256456	G	T	136256456	5	4	4	1	0	0	0	0	0	0	1	0	2508	1014	35	5	493	5	C9orf96	9	136256456	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	273852	136256456	4956975	2365	4430											
ADAMTS13	11093	broad.mit.edu	37	chr9	136319700	136319700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgtcccctgtctcattGccgactgcacctaccgctgg	9	17	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:136319700G>A	uc004cdv.4	+	23	3652	c.3208G>A	c.(3208-3210)Gcc>Acc	p.A1070T	ADAMTS13_uc004cdp.4_Missense_Mutation_p.A297T|ADAMTS13_uc004cdt.1_Missense_Mutation_p.A1070T|ADAMTS13_uc004cdu.1_Missense_Mutation_p.A1039T|ADAMTS13_uc004cdw.4_Missense_Mutation_p.A1070T|ADAMTS13_uc004cdx.4_Missense_Mutation_p.A1039T|ADAMTS13_uc004cdz.4_Missense_Mutation_p.A740T|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.4_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	1070					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)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTGTCTCATTGCCGACTGCAC	0.677													A	136319700	G	A	136319700	3	1	4	1	0	0	0	0	1	0	0	0	258	1319	46	2	3302	2	ADAMTS13	9	136319700	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	63244	136319700	4893731	2366	4431											
DBH	1621	broad.mit.edu	37	chr9	136508675	136508675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgaccgcctcaactactgCcgccacgtgctggccgcctg	10	20	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:136508675C>T	uc004cel.3	+	3	894	c.885C>T	c.(883-885)tgC>tgT	p.C295C		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	295					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TCAACTACTGCCGCCACGTGC	0.677													T	136508675	C	T	136508675	2	4	4	1	0	0	0	0	0	0	0	1	4250	747	26	2		2	DBH	9	136508675	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	188975	136508675	4704756	2367	4432											
VAV2	7410	broad.mit.edu	37	chr9	136643996	136643996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccatggtaattctgcatgGccaccatcttgggacctgca	10	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:136643996G>A	uc004ces.3	-	21	1824	c.1778C>T	c.(1777-1779)gCc>gTc	p.A593V	VAV2_uc004cer.3_Missense_Mutation_p.A583V|VAV2_uc004cet.1_Missense_Mutation_p.A132V	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.	593	SH3 1.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|metal ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		ATTCTGCATGGCCACCATCTT	0.627													A	136643996	G	A	136643996	3	1	4	1	0	0	0	0	1	0	0	0	17129	1203	42	2	894	2	VAV2	9	136643996	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	135321	136643996	4569435	2368	4433											
VAV2	7410	broad.mit.edu	37	chr9	136677305	136677305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccatcctcacacgggacGcagtcgtagatgtcctcccc	8	18	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:136677305G>A	uc004ces.3	-	4	529	c.483C>T	c.(481-483)tgC>tgT	p.C161C	VAV2_uc004cer.3_Silent_p.C161C	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.	161					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|metal ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CACACGGGACGCAGTCGTAGA	0.667													A	136677305	G	A	136677305	2	1	4	1	0	0	0	0	0	0	0	1	17129	1079	38	1		1	VAV2	9	136677305	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	33309	136677305	4536126	2369	4434											
BRD3	8019	broad.mit.edu	37	chr9	136913403	136913403	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgtgctggggcacctcGccgtcctccaggtccttctt	11	17	1	0	rs141698176	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:136913403G>A	uc004cew.3	-	5	1076	c.888C>T	c.(886-888)ggC>ggT	p.G296G	BRD3_uc004cex.2_Silent_p.G296G	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	296						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGGGCACCTCGCCGTCCTCCA	0.662			T	C15orf55	lethal midline carcinoma of young people								A	136913403	G	A	136913403	2	1	4	1	0	0	0	0	0	0	0	1	1503	1074	38	1		1	BRD3	9	136913403	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	236098	136913403	4300028	2370	4435											
RXRA	6256	broad.mit.edu	37	chr9	137300846	137300846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttcaagcggacggtgcGcaaggacctgacctacacct	10	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:137300846G>A	uc004cfb.2	+	3	653	c.491G>A	c.(490-492)cGc>cAc	p.R164H	RXRA_uc004cfc.1_Missense_Mutation_p.R67H	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	164					cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	p.V163V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CGGACGGTGCGCAAGGACCTG	0.642													A	137300846	G	A	137300846	3	1	4	1	0	0	0	0	1	0	0	0	13763	1087	38	1	505	1	RXRA	9	137300846	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	387443	137300846	3912585	2371	4436											
LCN9	392399	broad.mit.edu	37	chr9	138557549	138557549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagatttgaagaaacctgCgaaaagtacggacttggctc	11	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:138557549C>T	uc004cgk.1	+	4	426	c.426C>T	c.(424-426)tgC>tgT	p.C142C		NM_001001676	NP_001001676	Q8WX39	LCN9_HUMAN	Homo sapiens lipocalin 9 (LCN9), mRNA.	142						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		AAGAAACCTGCGAAAAGTACG	0.572													T	138557549	C	T	138557549	2	4	4	1	0	0	0	0	0	0	0	1	8687	776	27	1		1	LCN9	9	138557549	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1256703	138557549	2655882	2372	4437											
CAMSAP1	157922	broad.mit.edu	37	chr9	138714394	138714394	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtcttcatcggccctgcCtacatgaaggaagaagccat	11	11	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:138714394C>G	uc004cgr.4	-	10	2113	c.2113G>C	c.(2113-2115)Ggc>Cgc	p.G705R	CAMSAP1_uc004cgq.4_Missense_Mutation_p.G595R|CAMSAP1_uc010nbg.3_Missense_Mutation_p.G427R	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	705						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCGGCCCTGCCTACATGAAGG	0.567													G	138714394	C	G	138714394	3	3	4	1	0	0	0	0	1	0	0	0	2611	681	24	5	2723	5	CAMSAP1	9	138714394	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	156845	138714394	2499037	2373	4438											
QSOX2	169714	broad.mit.edu	37	chr9	139113754	139113754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccagtgctcgggtcaccaCgatgctttcatacgggatca	11	12	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:139113754C>T	uc010nbi.2	-	5	747	c.709G>A	c.(709-711)Gtg>Atg	p.V237M		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA.	237					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CGGGTCACCACGATGCTTTCA	0.517													T	139113754	C	T	139113754	3	4	4	1	0	0	0	0	1	0	0	0	12884	536	19	1	1415	1	QSOX2	9	139113754	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	399360	139113754	2099677	2374	4439											
SDCCAG3	10807	broad.mit.edu	37	chr9	139302298	139302298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgcataaattctgctggCcggatcctctttcgagaggc	10	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:139302298C>T	uc004chi.3	-	3	587	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	SDCCAG3_uc004chj.3_Missense_Mutation_p.A105T|SDCCAG3_uc004chk.3_Missense_Mutation_p.A55T|PMPCA_uc011mdy.1_5'Flank|PMPCA_uc010nbk.2_5'Flank|PMPCA_uc011mdz.2_5'Flank|PMPCA_uc004chl.3_5'Flank|PMPCA_uc010nbl.3_5'Flank	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN	Homo sapiens serologically defined colon cancer antigen 3 (SDCCAG3), transcript variant 1, mRNA.	128						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		ATTCTGCTGGCCGGATCCTCT	0.493													T	139302298	C	T	139302298	3	4	4	1	0	0	0	0	1	0	0	0	13958	739	26	2	953	2	SDCCAG3	9	139302298	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	188544	139302298	1911133	2375	4440											
PMPCA	23203	broad.mit.edu	37	chr9	139311661	139311661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagtacactggggggattGccaaggtgaagtagcgggaa	16	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:139311661G>A	uc004chl.3	+	6	897	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	PMPCA_uc011mdz.2_Missense_Mutation_p.A167T|PMPCA_uc010nbl.3_Missense_Mutation_p.A198T|PMPCA_uc004chm.1_Missense_Mutation_p.A48T|PMPCA_uc004chn.1_5'Flank	NM_015160	NP_055975	Q10713	MPPA_HUMAN	Homo sapiens peptidase (mitochondrial processing) alpha (PMPCA), nuclear gene encoding mitochondrial protein, mRNA.	298					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGGGGGGATTGCCAAGGTGAA	0.612													A	139311661	G	A	139311661	3	1	4	1	0	0	0	0	1	0	0	0	12140	1319	46	2	918	2	PMPCA	9	139311661	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	9363	139311661	1901770	2376	4441											
SEC16A	9919	broad.mit.edu	37	chr9	139358156	139358156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggtcccgggaacgcccGcatctcctcctgctcagacg	12	17	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:139358156G>A	uc004chx.3	-	9	4792	c.4483C>T	c.(4483-4485)Cgg>Tgg	p.R1495W	SEC16A_uc004chv.4_Missense_Mutation_p.R885W|SEC16A_uc004chw.3_Missense_Mutation_p.R1495W|SEC16A_uc010nbn.3_Missense_Mutation_p.R1495W	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	1317					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGGAACGCCCGCATCTCCTCC	0.627													A	139358156	G	A	139358156	3	1	4	1	0	0	0	0	1	0	0	0	13986	1086	38	1	2682	1	SEC16A	9	139358156	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	46495	139358156	1855275	2377	4442											
NOTCH1	4851	broad.mit.edu	37	chr9	139391176	139391176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatgctgcagggagggggCctgtgtgctcagggggcctg	20	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:139391176C>T	uc004chz.3	-	33	7015	c.7015G>A	c.(7015-7017)Gcc>Acc	p.A2339T		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2339					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGGAGGGGGCCTGTGTGCTC	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			T	139391176	C	T	139391176	3	4	4	1	0	0	0	0	1	0	0	0	10547	739	26	2	656	2	NOTCH1	9	139391176	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	33020	139391176	1822255	2378	4443											
NOTCH1	4851	broad.mit.edu	37	chr9	139407576	139407576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcgttgatgttggtctgGcagttgggacctggagggaa	16	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:139407576G>A	uc004chz.3	-	14	2364	c.2364C>T	c.(2362-2364)tgC>tgT	p.C788C	NOTCH1_uc004cia.1_Silent_p.C18C	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	788	EGF-like 20.				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGTTGGTCTGGCAGTTGGGAC	0.622			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			A	139407576	G	A	139407576	2	1	4	1	0	0	0	0	0	0	0	1	10547	1195	42	2		2	NOTCH1	9	139407576	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	16400	139407576	1805855	2379	4444											
NOTCH1	4851	broad.mit.edu	37	chr9	139412321	139412321	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggggcccgtgtagccctGcagacactggcactcgaagg	15	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:139412321G>A	uc004chz.3	-	7	1324	c.1324C>T	c.(1324-1326)Cag>Tag	p.Q442*		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	442	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGTAGCCCTGCAGACACTGG	0.652			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			A	139412321	G	A	139412321	4	1	4	1	0	0	0	0	0	1	0	0	10547	1328	46	2	6451	2	NOTCH1	9	139412321	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4745	139412321	1801110	2380	4445											
PHPT1	29085	broad.mit.edu	37	chr9	139744537	139744537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtgtctgggcggcgggcGcatctcccaccagagtcagg	16	12	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:139744537G>A	uc004cjq.4	+	1	860	c.233G>A	c.(232-234)cGc>cAc	p.R78H	PHPT1_uc011mei.2_Missense_Mutation_p.R78H|MAMDC4_uc004cjs.3_5'Flank|MAMDC4_uc011mej.2_5'Flank	NM_014172	NP_054891	Q9NRX4	PHP14_HUMAN	Homo sapiens phosphohistidine phosphatase 1 (PHPT1), transcript variant 3, mRNA.	78						cytosol	phosphohistidine phosphatase activity|phosphoprotein phosphatase activity			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GGCGGCGGGCGCATCTCCCAC	0.637													A	139744537	G	A	139744537	3	1	4	1	0	0	0	0	1	0	0	0	11860	1087	38	1	239	1	PHPT1	9	139744537	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	332216	139744537	1468894	2381	4446											
ABCA2	20	broad.mit.edu	37	chr9	139912013	139912013	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccagatgatgaccacgtgGctgtgcataagcacctggcc	12	12	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:139912013G>A	uc004ckm.1	-	16	2480	c.2430C>T	c.(2428-2430)agC>agT	p.S810S	ABCA2_uc022bpy.1_Silent_p.S711S|ABCA2_uc022bpz.1_Silent_p.S781S|ABCA2_uc011mem.1_Silent_p.S780S|ABCA2_uc004ckl.1_Silent_p.S711S|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	780					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGACCACGTGGCTGTGCATAA	0.612													A	139912013	G	A	139912013	2	1	4	1	0	0	0	0	0	0	0	1	32	1194	42	2		2	ABCA2	9	139912013	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	167476	139912013	1301418	2382	4447											
MAN1B1	11253	broad.mit.edu	37	chr9	139996028	139996028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtactggagttgcccacccGccacggtggacctccgacag	13	15	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:139996028G>A	uc004cld.2	+	7	1193	c.1158G>A	c.(1156-1158)ccG>ccA	p.P386P	MAN1B1_uc004clc.2_Silent_p.P287P|MAN1B1_uc011meo.1_Silent_p.P287P|MAN1B1_uc011mep.2_Silent_p.P386P|MAN1B1_uc010ncc.2_Non-coding_Transcript|MAN1B1_uc004clf.1_5'Flank	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	Homo sapiens mannosidase, alpha, class 1B, member 1 (MAN1B1), transcript variant 1, mRNA.	386					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TTGCCCACCCGCCACGGTGGA	0.542													A	139996028	G	A	139996028	2	1	4	1	0	0	0	0	0	0	0	1	9212	1074	38	1		1	MAN1B1	9	139996028	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	84015	139996028	1217403	2383	4448											
MAN1B1	11253	broad.mit.edu	37	chr9	140002935	140002935	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttcttcctgggggagacGctcaagtatctgttcttgct	11	10	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:140002935G>A	uc004cld.2	+	12	2027	c.1992G>A	c.(1990-1992)acG>acA	p.T664T	MAN1B1_uc011mep.2_3'UTR|MAN1B1_uc010ncc.2_Non-coding_Transcript|MAN1B1_uc004clf.1_Silent_p.T337T	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	Homo sapiens mannosidase, alpha, class 1B, member 1 (MAN1B1), transcript variant 1, mRNA.	664					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TGGGGGAGACGCTCAAGTATC	0.562													A	140002935	G	A	140002935	2	1	4	1	0	0	0	0	0	0	0	1	9212	1074	38	1		1	MAN1B1	9	140002935	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	6907	140002935	1210496	2384	4449											
ZMYND19	116225	broad.mit.edu	37	chr9	140481457	140481457	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcagccttgggccgccaGccccacggcaccagttgcag	11	17	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:140481457G>A	uc004cno.1	-	3	543	c.321C>T	c.(319-321)ggC>ggT	p.G107G		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	Homo sapiens zinc finger, MYND-type containing 19 (ZMYND19), mRNA.	107						Golgi apparatus|plasma membrane	zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		TGGGCCGCCAGCCCCACGGCA	0.677													A	140481457	G	A	140481457	2	1	4	1	0	0	0	0	0	0	0	1	17707	958	34	2		2	ZMYND19	9	140481457	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	478522	140481457	731974	2385	4450											
EHMT1	79813	broad.mit.edu	37	chr9	140672491	140672491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttggagagcgctctcatcGccctcgactcggaaaagtaa	10	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:140672491G>A	uc011mfc.2	+	12	2213	c.2176G>A	c.(2176-2178)Gcc>Acc	p.A726T	EHMT1_uc004coa.3_Missense_Mutation_p.A726T|EHMT1_uc004cob.1_Missense_Mutation_p.A695T	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	726					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CGCTCTCATCGCCCTCGACTC	0.562													A	140672491	G	A	140672491	3	1	4	1	0	0	0	0	1	0	0	0	4983	1087	38	1	2226	1	EHMT1	9	140672491	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	191034	140672491	540940	2386	4451											
DIP2C	22982	broad.mit.edu	37	chr10	430000	430000	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgccactatcagcattcGcagagaggagaggttgatgt	13	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:430000G>A	uc001ifp.3	-	15	1933	c.1843C>T	c.(1843-1845)Cga>Tga	p.R615*	DIP2C_uc009xhj.1_Nonsense_Mutation_p.R311*	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	615						nucleus	catalytic activity|transcription factor binding	p.R615*(2)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ATCAGCATTCGCAGAGAGGAG	0.483													A	430000	G	A	430000	4	1	4	1	0	0	0	0	0	1	0	0	4529	1095	38	1	2915	1	DIP2C	10	430000	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08		430000	135104747	2387	4452											
LARP4B	23185	broad.mit.edu	37	chr10	890939	890940	+	Frame_Shift_Del	DEL	TT	TT	-													agataagcagaattccaatgTttttttaagtacttctcggg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:890938_890939GTT>G	uc001ifs.1	-	4	528_529	c.487_488AAC>C	c.(487-489)acafs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	163	HTH La-type RNA-binding.						RNA binding|nucleotide binding	p.T163P(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GAATTCCAATGTTTTTTTAAGT	0.351													-	890940	TT	-	890939	7	5	4	1	0	1	0	1	0	0	0	0	8631	1725	60	0	1781	0	LARP4B	10	890939	Frame_Shift_Del	DEL	TT	TCGA-BR-4184-01A-01D-1126-08	460939	890939	134643808	2388	4453											
GTPBP4	23560	broad.mit.edu	37	chr10	1043150	1043150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttgaacttttcctagtgCgtcagcatttatcccgtttg	7	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:1043150C>T	uc001ift.3	+	4	534	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc010qad.2_Missense_Mutation_p.R39C|GTPBP4_uc010qae.2_Missense_Mutation_p.R108C	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	155					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TTTCCTAGTGCGTCAGCATTT	0.383													T	1043150	C	T	1043150	3	4	4	1	0	0	0	0	1	0	0	0	6882	768	27	1	481	1	GTPBP4	10	1043150	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	152211	1043150	134491597	2389	4454											
PFKP	5214	broad.mit.edu	37	chr10	3124630	3124630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgggtatctacgtggggGccaaggtgtacttcatctac	13	9	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:3124630G>A	uc001igp.3	+	1	239	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	PFKP_uc001igq.3_Missense_Mutation_p.G20D|PFKP_uc009xhr.3_Missense_Mutation_p.A17T	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	55					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTACGTGGGGGCCAAGGTGTA	0.617													A	3124630	G	A	3124630	3	1	4	1	0	0	0	0	1	0	0	0	11766	1203	42	2	169	2	PFKP	10	3124630	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2081480	3124630	132410117	2390	4455											
PFKP	5214	broad.mit.edu	37	chr10	3154433	3154433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcaggatgtgcagaaggCgatggacgagaggagatttc	16	6	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:3154433C>T	uc001igp.3	+	10	1185	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V	PFKP_uc001igq.3_Missense_Mutation_p.A362V|PFKP_uc009xhr.3_Missense_Mutation_p.A332V|PFKP_uc009xhs.1_Missense_Mutation_p.A154V|PFKP_uc009xht.3_Missense_Mutation_p.A108V|PFKP_uc009xhu.3_5'Flank	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	370					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GTGCAGAAGGCGATGGACGAG	0.522													T	3154433	C	T	3154433	3	4	4	1	0	0	0	0	1	0	0	0	11766	768	27	1	1151	1	PFKP	10	3154433	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	29803	3154433	132380314	2391	4456											
TUBAL3	79861	broad.mit.edu	37	chr10	5435974	5435974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggctttgtcagcagagaCgatgggggcgaaggctgtca	17	7	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:5435974C>T	uc001ihy.3	-	3	885	c.847G>A	c.(847-849)Gtc>Atc	p.V283I	TUBAL3_uc001ihz.3_Missense_Mutation_p.V243I	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA.	283					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						TCAGCAGAGACGATGGGGGCG	0.517													T	5435974	C	T	5435974	3	4	4	1	0	0	0	0	1	0	0	0	16748	536	19	1	497	1	TUBAL3	10	5435974	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2281541	5435974	130098773	2392	4457											
SFMBT2	57713	broad.mit.edu	37	chr10	7247845	7247845	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcccactgggaagatgtccAtggattccacatcaacaatg	9	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:7247845A>T	uc009xio.2	-	11	1467	c.1376T>A	c.(1375-1377)aTg>aAg	p.M459K	SFMBT2_uc001ijn.2_Missense_Mutation_p.M459K|SFMBT2_uc010qay.2_Intron	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	459					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GAAGATGTCCATGGATTCCAC	0.478													T	7247845	A	T	7247845	3	4	4	1	0	0	0	0	1	0	0	0	14158	217	8	5	1348	5	SFMBT2	10	7247845	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1811871	7247845	128286902	2393	4458											
SFMBT2	57713	broad.mit.edu	37	chr10	7409677	7409677	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgcaaatccgcgatgaCtacgtcacaccagaagtcgg	13	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:7409677C>G	uc009xio.2	-	3	461	c.370G>C	c.(370-372)Gtc>Ctc	p.V124L	SFMBT2_uc001ijn.2_Missense_Mutation_p.V124L|SFMBT2_uc010qay.2_Missense_Mutation_p.V124L|SFMBT2_uc001ijo.2_Missense_Mutation_p.V124L	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	124					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCCGCGATGACTACGTCACAC	0.602													G	7409677	C	G	7409677	3	3	4	1	0	0	0	0	1	0	0	0	14158	565	20	5	2386	5	SFMBT2	10	7409677	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	161832	7409677	128125070	2394	4459											
DHTKD1	55526	broad.mit.edu	37	chr10	12136162	12136162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggcttttgaataccaacGccagttccgcaaggatgtga	10	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:12136162G>A	uc001ild.4	+	6	1349	c.1250G>A	c.(1249-1251)cGc>cAc	p.R417H		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	417					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R417C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GAATACCAACGCCAGTTCCGC	0.517													A	12136162	G	A	12136162	3	1	4	1	0	0	0	0	1	0	0	0	4500	1087	38	1	1276	1	DHTKD1	10	12136162	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4726485	12136162	123398585	2395	4460											
CAMK1D	57118	broad.mit.edu	37	chr10	12833171	12833171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagctcctgaagtcctcGcccagaaaccttacagcaaa	7	15	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:12833171G>A	uc001ilo.3	+	5	815	c.580G>A	c.(580-582)Gcc>Acc	p.A194T	CAMK1D_uc001iln.3_Missense_Mutation_p.A194T	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	194	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TGAAGTCCTCGCCCAGAAACC	0.502													A	12833171	G	A	12833171	3	1	4	1	0	0	0	0	1	0	0	0	2597	1087	38	1	602	1	CAMK1D	10	12833171	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	697009	12833171	122701576	2396	4461											
MCM10	55388	broad.mit.edu	37	chr10	13213246	13213246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccccaggcgagagaaaaCgaatgaagagttgcaaggtg	14	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:13213246C>T	uc001ima.3	+	2	460	c.332C>T	c.(331-333)aCg>aTg	p.T111M	MCM10_uc001imb.3_Missense_Mutation_p.T111M|MCM10_uc001imc.3_Missense_Mutation_p.T111M	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	111					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CGAGAGAAAACGAATGAAGAG	0.448													T	13213246	C	T	13213246	3	4	4	1	0	0	0	0	1	0	0	0	9385	536	19	1	338	1	MCM10	10	13213246	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	380075	13213246	122321501	2397	4462											
FAM188A	80013	broad.mit.edu	37	chr10	15838155	15838155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctgaaggagcttcagggGcaactaaagccatatcctga	11	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:15838155G>A	uc001iod.1	-	10	1120	c.899C>T	c.(898-900)gCc>gTc	p.A300V	FAM188A_uc001ioe.1_Missense_Mutation_p.A127V	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	Homo sapiens family with sequence similarity 188, member A (FAM188A), mRNA.	300					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						AGCTTCAGGGGCAACTAAAGC	0.373													A	15838155	G	A	15838155	3	1	4	1	0	0	0	0	1	0	0	0	5514	1203	42	2	458	2	FAM188A	10	15838155	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2624909	15838155	119696592	2398	4463											
CUBN	8029	broad.mit.edu	37	chr10	16970170	16970170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattactcttgtgaaaggatGcattgaagcctgccctggtt	10	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:16970170G>A	uc001ioo.3	-	40	6309	c.6257C>T	c.(6256-6258)gCa>gTa	p.A2086V		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2086	CUB 14.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTGAAAGGATGCATTGAAGCC	0.443													A	16970170	G	A	16970170	3	1	4	1	0	0	0	0	1	0	0	0	4051	1319	46	2	4722	2	CUBN	10	16970170	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1132015	16970170	118564577	2399	4464											
VIM	7431	broad.mit.edu	37	chr10	17277251	17277251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccaagacactattggccgCctgcaggatgagattcagaa	10	10	1	3	rs116696668	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:17277251C>T	uc001iou.2	+	6	1505	c.1092C>T	c.(1090-1092)cgC>cgT	p.R364R		NM_003380	NP_003371	P08670	VIME_HUMAN	Homo sapiens vimentin (VIM), mRNA.	364	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTATTGGCCGCCTGCAGGATG	0.483													T	17277251	C	T	17277251	2	4	4	1	0	0	0	0	0	0	0	1	17163	726	26	2		2	VIM	10	17277251	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	307081	17277251	118257496	2400	4465											
CACNB2	783	broad.mit.edu	37	chr10	18816561	18816561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacatctcgcttgccaaacGctcggtattaaacaatccca	6	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:18816561G>A	uc001ipr.2	+	9	1049	c.989G>A	c.(988-990)cGc>cAc	p.R330H	CACNB2_uc001ipt.2_Missense_Mutation_p.R292H|CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Missense_Mutation_p.R306H|CACNB2_uc010qcl.2_Non-coding_Transcript|CACNB2_uc001ipu.3_Missense_Mutation_p.R302H|CACNB2_uc001ipv.3_Missense_Mutation_p.R278H|CACNB2_uc009xka.2_Missense_Mutation_p.R264H|CACNB2_uc001ipw.2_Missense_Mutation_p.R237H|CACNB2_uc001ipx.2_Missense_Mutation_p.R275H|CACNB2_uc001ipz.2_Missense_Mutation_p.R252H|CACNB2_uc001ipy.2_Missense_Mutation_p.R276H|CACNB2_uc010qco.1_Missense_Mutation_p.R244H|CACNB2_uc001iqa.2_Missense_Mutation_p.R282H|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	330					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTTGCCAAACGCTCGGTATTA	0.423													A	18816561	G	A	18816561	3	1	4	1	0	0	0	0	1	0	0	0	2553	1087	38	1	1337	1	CACNB2	10	18816561	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1539310	18816561	116718186	2401	4466											
ARL5B	221079	broad.mit.edu	37	chr10	18957477	18957477	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttaatgaatgaagtggtTcatacttctccaaccatagg	8	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:18957477T>C	uc001iqd.1	+	2	380	c.126T>C	c.(124-126)gtT>gtC	p.V42V		NM_178815	NP_848930	Q96KC2	ARL5B_HUMAN	Homo sapiens ADP-ribosylation factor-like 5B (ARL5B), mRNA.	42					small GTPase mediated signal transduction	intracellular	GTP binding			lung(1)|ovary(1)	2						ATGAAGTGGTTCATACTTCTC	0.358													C	18957477	T	C	18957477	2	2	4	1	0	0	0	0	0	0	0	1	940	1770	62	3		3	ARL5B	10	18957477	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	140916	18957477	116577270	2402	4467											
C10orf114	399726	broad.mit.edu	37	chr10	21785730	21785730	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcgccaccctgagggcTcccgcgattgcatcttcttg	11	16	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:21785730T>A	uc001iqn.4	-	0	484	c.14A>T	c.(13-15)gAg>gTg	p.E5V	MIR1915_uc021pnw.1_5'Flank	NM_001010911	NP_001010911	Q5T4H9	CJ114_HUMAN	Homo sapiens chromosome 10 open reading frame 114 (C10orf114), mRNA.	5										endometrium(2)|large_intestine(1)|lung(2)	5						CCCTGAGGGCTCCCGCGATTG	0.642													A	21785730	T	A	21785730	3	1	4	1	0	0	0	0	1	0	0	0	1585	1551	54	5	404	5	C10orf114	10	21785730	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	2828253	21785730	113749017	2403	4468											
PIP4K2A	5305	broad.mit.edu	37	chr10	22898568	22898568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgttaaaaaggtgattgtCcacctttatttttgaatagg	8	5	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:22898568C>T	uc001irl.4	-	1	471	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_005028	NP_005019	P48426	PI42A_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP4K2A), mRNA.	75	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						AGGTGATTGTCCACCTTTATT	0.328													T	22898568	C	T	22898568	3	4	4	1	0	0	0	0	1	0	0	0	11936	855	30	4	1033	4	PIP4K2A	10	22898568	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1112838	22898568	112636179	2404	4469											
KIAA1217	56243	broad.mit.edu	37	chr10	24669946	24669946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaggcagccggactcgtgCgagccttcctgtggtgaggt	16	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:24669946C>T	uc001iru.4	+	2	906	c.503C>T	c.(502-504)gCg>gTg	p.A168V	KIAA1217_uc001irs.3_Missense_Mutation_p.A88V|KIAA1217_uc001irt.4_Missense_Mutation_p.A168V|KIAA1217_uc010qcy.2_Missense_Mutation_p.A168V|KIAA1217_uc010qcz.2_Missense_Mutation_p.A168V|KIAA1217_uc001irv.1_Missense_Mutation_p.A18V|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	168					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CGGACTCGTGCGAGCCTTCCT	0.522													T	24669946	C	T	24669946	3	4	4	1	0	0	0	0	1	0	0	0	8216	768	27	1	513	1	KIAA1217	10	24669946	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1771378	24669946	110864801	2405	4470											
KIAA1217	56243	broad.mit.edu	37	chr10	24727368	24727368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaaggatcctgcacatgCgtttaatcacacaccaaaaa	5	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:24727368C>T	uc001iru.4	+	4	1209	c.806C>T	c.(805-807)gCg>gTg	p.A269V	KIAA1217_uc001irs.3_Missense_Mutation_p.A189V|KIAA1217_uc001irt.4_Missense_Mutation_p.A269V|KIAA1217_uc010qcy.2_Missense_Mutation_p.A269V|KIAA1217_uc010qcz.2_Missense_Mutation_p.A269V|KIAA1217_uc001irv.1_Missense_Mutation_p.A119V|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	269					embryonic skeletal system development	cytoplasm		p.A269V(2)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCTGCACATGCGTTTAATCAC	0.413													T	24727368	C	T	24727368	3	4	4	1	0	0	0	0	1	0	0	0	8216	768	27	1	824	1	KIAA1217	10	24727368	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	57422	24727368	110807379	2406	4471											
KIAA1217	56243	broad.mit.edu	37	chr10	24816953	24816953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcctagaagaagctcaggCcaatatcatgaagtcaatac	8	10	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:24816953C>T	uc001iru.4	+	13	3390	c.2987C>T	c.(2986-2988)gCc>gTc	p.A996V	KIAA1217_uc001irs.3_Missense_Mutation_p.A916V|KIAA1217_uc001irt.4_Missense_Mutation_p.A961V|KIAA1217_uc010qcy.2_Missense_Mutation_p.A961V|KIAA1217_uc010qcz.2_Missense_Mutation_p.A961V|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.A679V|KIAA1217_uc001irz.3_Missense_Mutation_p.A679V|KIAA1217_uc001irx.3_Missense_Mutation_p.A679V|KIAA1217_uc001iry.3_Missense_Mutation_p.A679V	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	996					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GAAGCTCAGGCCAATATCATG	0.468													T	24816953	C	T	24816953	3	4	4	1	0	0	0	0	1	0	0	0	8216	739	26	2	3041	2	KIAA1217	10	24816953	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	89585	24816953	110717794	2407	4472											
GPR158	57512	broad.mit.edu	37	chr10	25887280	25887280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcagtgtcatagcaagcGccaaggagaagactcttgga	11	10	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:25887280G>A	uc001isj.3	+	10	2785	c.2725G>A	c.(2725-2727)Gcc>Acc	p.A909T	GPR158_uc001isk.3_Missense_Mutation_p.A284T	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	909						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S908I(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CATAGCAAGCGCCAAGGAGAA	0.478													A	25887280	G	A	25887280	3	1	4	1	0	0	0	0	1	0	0	0	6663	1087	38	1	2767	1	GPR158	10	25887280	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1070327	25887280	109647467	2408	4473											
GPR158	57512	broad.mit.edu	37	chr10	25888009	25888009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttctgaggagaatgtgCgtggctcctataactcaagt	10	9	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:25888009C>T	uc001isj.3	+	10	3514	c.3454C>T	c.(3454-3456)Cgt>Tgt	p.R1152C	GPR158_uc001isk.3_Missense_Mutation_p.R527C	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	1152						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R1152C(2)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGAGAATGTGCGTGGCTCCTA	0.443													T	25888009	C	T	25888009	3	4	4	1	0	0	0	0	1	0	0	0	6663	768	27	1	3496	1	GPR158	10	25888009	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	729	25888009	109646738	2409	4474											
PDSS1	23590	broad.mit.edu	37	chr10	26998655	26998655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcgaccaattattgtggCgctaatggcccgagcatgca	10	11	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:26998655C>T	uc001isv.3	+	4	471	c.425C>T	c.(424-426)gCg>gTg	p.A142V	PDSS1_uc001isw.3_Missense_Mutation_p.A142V	NM_014317	NP_055132	Q5T2R2	DPS1_HUMAN	Homo sapiens prenyl (decaprenyl) diphosphate synthase, subunit 1 (PDSS1), mRNA.	142				A -> V (in Ref. 1; AAD28559).	isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						ATTATTGTGGCGCTAATGGCC	0.393													T	26998655	C	T	26998655	3	4	4	1	0	0	0	0	1	0	0	0	11693	768	27	1	443	1	PDSS1	10	26998655	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1110646	26998655	108536092	2410	4475											
ANKRD26	22852	broad.mit.edu	37	chr10	27301829	27301829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgctcaagtagttctcCatgctattatttgaagcccg	7	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:27301829C>T	uc009xku.1	-	31	5107	c.4935G>A	c.(4933-4935)atG>atA	p.M1645I	ANKRD26_uc001itg.2_Missense_Mutation_p.M1331I|ANKRD26_uc001ith.2_Missense_Mutation_p.M1644I	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	1644						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AGTAGTTCTCCATGCTATTAT	0.323													T	27301829	C	T	27301829	3	4	4	1	0	0	0	0	1	0	0	0	654	594	21	4	209	4	ANKRD26	10	27301829	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	303174	27301829	108232918	2411	4476											
PTCHD3	374308	broad.mit.edu	37	chr10	27702400	27702400	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttggggggcacgcagagCgccctgtacctcgcgcacac	16	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:27702400C>T	uc001itu.2	-	0	898	c.780G>A	c.(778-780)gcG>gcA	p.A260A		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	260					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCACGCAGAGCGCCCTGTACC	0.632													T	27702400	C	T	27702400	2	4	4	1	0	0	0	0	0	0	0	1	12734	755	27	1		1	PTCHD3	10	27702400	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	400571	27702400	107832347	2412	4477											
PTCHD3	374308	broad.mit.edu	37	chr10	27702950	27702950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgtccagcatcgacggcCgggggggtgcatcgtccccc	14	16	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:27702950C>T	uc001itu.2	-	0	348	c.230G>A	c.(229-231)cGg>cAg	p.R77Q		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	77					spermatid development	integral to membrane	hedgehog receptor activity	p.P76S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CATCGACGGCCGGGGGGGTGC	0.721													T	27702950	C	T	27702950	3	4	4	1	0	0	0	0	1	0	0	0	12734	652	23	1	2089	1	PTCHD3	10	27702950	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	550	27702950	107831797	2413	4478											
LYZL1	84569	broad.mit.edu	37	chr10	29580930	29580930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttactggggcttcagccttgGaaactgtgagactctttctt	10	9	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:29580930G>A	uc001iul.3	+	1	329	c.272G>A	c.(271-273)gGa>gAa	p.G91E		NM_032517	NP_115906	Q6UWQ5	LYZL1_HUMAN	Homo sapiens lysozyme-like 1 (LYZL1), mRNA.	45					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				TTCAGCCTTGGAAACTGTGAG	0.522													A	29580930	G	A	29580930	3	1	4	1	0	0	0	0	1	0	0	0	9131	1174	41	4	278	4	LYZL1	10	29580930	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1877980	29580930	105953817	2414	4479											
MAP3K8	1326	broad.mit.edu	37	chr10	30748327	30748327	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacatgaggccctgaacccGcccagagaggatcagccacg	11	14	1	3	rs141896473		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:30748327G>A	uc001ivi.2	+	7	1782	c.1170G>A	c.(1168-1170)ccG>ccA	p.P390P	MAP3K8_uc009xlf.2_Silent_p.P390P|MAP3K8_uc001ivj.2_Silent_p.P390P	NM_005204	NP_005195	P41279	M3K8_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 8 (MAP3K8), transcript variant 1, mRNA.	390					T cell costimulation|cell cycle	cytosol	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein binding	p.P390P(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CCCTGAACCCGCCCAGAGAGG	0.567													A	30748327	G	A	30748327	2	1	4	1	0	0	0	0	0	0	0	1	9256	1074	38	1		1	MAP3K8	10	30748327	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1167397	30748327	104786420	2415	4480											
ZNF438	220929	broad.mit.edu	37	chr10	31137485	31137485	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgatccctccatgcctcGcacactcatgtctctgttct	5	16	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:31137485G>A	uc010qdz.2	-	6	2284	c.1849C>T	c.(1849-1851)Cga>Tga	p.R617*	ZNF438_uc001ivn.3_Nonsense_Mutation_p.R568*|ZNF438_uc010qdy.2_Nonsense_Mutation_p.R607*|ZNF438_uc001ivo.4_Nonsense_Mutation_p.R181*|ZNF438_uc009xlg.3_Nonsense_Mutation_p.R617*|ZNF438_uc001ivp.4_Nonsense_Mutation_p.R607*|ZNF438_uc010qea.2_Nonsense_Mutation_p.R617*|ZNF438_uc010qeb.2_Nonsense_Mutation_p.R617*|ZNF438_uc010qec.1_Nonsense_Mutation_p.R181*	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCCATGCCTCGCACACTCATG	0.498													A	31137485	G	A	31137485	4	1	4	1	0	0	0	0	0	1	0	0	17907	1095	38	1	645	1	ZNF438	10	31137485	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	389158	31137485	104397262	2416	4481											
NRP1	8829	broad.mit.edu	37	chr10	33496560	33496560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccgccatgagtggctctctCggggtagatcctgatgaatc	12	11	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:33496560C>T	uc001iwx.4	-	9	2222	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K	NRP1_uc001iwv.4_Missense_Mutation_p.E567K|NRP1_uc001iwy.4_Missense_Mutation_p.E567K|NRP1_uc009xlz.3_Missense_Mutation_p.E567K|NRP1_uc001iww.4_Missense_Mutation_p.E386K|NRP1_uc001iwz.2_Missense_Mutation_p.E567K|NRP1_uc001ixa.2_Missense_Mutation_p.E567K|NRP1_uc001ixb.2_Missense_Mutation_p.E567K	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	567	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	p.P566P(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GTGGCTCTCTCGGGGTAGATC	0.493													T	33496560	C	T	33496560	3	4	4	1	0	0	0	0	1	0	0	0	10660	893	31	1	1115	1	NRP1	10	33496560	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2359075	33496560	102038187	2417	4482											
PARD3	56288	broad.mit.edu	37	chr10	34626277	34626277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctgaaaattgctttgtgCgtttttctgacatactctga	7	8	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:34626277C>T	uc010qej.2	-	16	2825	c.2495G>A	c.(2494-2496)cGc>cAc	p.R832H	PARD3_uc010qep.2_Intron|PARD3_uc010qeq.2_Missense_Mutation_p.R772H|PARD3_uc010qek.2_Missense_Mutation_p.R829H|PARD3_uc010qel.2_Missense_Mutation_p.R832H|PARD3_uc010qem.2_Missense_Mutation_p.R816H|PARD3_uc010qen.2_Intron|PARD3_uc010qeo.2_Intron|PARD3_uc001ixo.2_Missense_Mutation_p.R546H|PARD3_uc001ixr.2_Missense_Mutation_p.R829H|PARD3_uc001ixq.2_Intron|PARD3_uc001ixp.2_Intron|PARD3_uc001ixt.1_Missense_Mutation_p.R650H|PARD3_uc001ixu.2_Missense_Mutation_p.R775H|PARD3_uc001ixs.1_Intron	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	832	Interacts with PRKCZ (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTGCTTTGTGCGTTTTTCTGA	0.363													T	34626277	C	T	34626277	3	4	4	1	0	0	0	0	1	0	0	0	11443	768	27	1	1646	1	PARD3	10	34626277	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1129717	34626277	100908470	2418	4483											
PARD3	56288	broad.mit.edu	37	chr10	34671594	34671594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttttcccgaggggtgtgCgctatgaggtagtcttgagt	16	6	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:34671594C>T	uc010qej.2	-	8	1603	c.1273G>A	c.(1273-1275)Gca>Aca	p.A425T	PARD3_uc010qep.2_Missense_Mutation_p.A381T|PARD3_uc010qeq.2_Missense_Mutation_p.A381T|PARD3_uc010qek.2_Missense_Mutation_p.A425T|PARD3_uc010qel.2_Missense_Mutation_p.A425T|PARD3_uc010qem.2_Missense_Mutation_p.A425T|PARD3_uc010qen.2_Missense_Mutation_p.A425T|PARD3_uc010qeo.2_Missense_Mutation_p.A425T|PARD3_uc001ixo.2_Missense_Mutation_p.A155T|PARD3_uc001ixr.2_Missense_Mutation_p.A425T|PARD3_uc001ixq.2_Missense_Mutation_p.A425T|PARD3_uc001ixp.2_Missense_Mutation_p.A425T|PARD3_uc001ixt.1_Missense_Mutation_p.A246T|PARD3_uc001ixu.2_Missense_Mutation_p.A381T|PARD3_uc001ixs.1_Missense_Mutation_p.A78T	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	425					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GAGGGGTGTGCGCTATGAGGT	0.527													T	34671594	C	T	34671594	3	4	4	1	0	0	0	0	1	0	0	0	11443	768	27	1	2900	1	PARD3	10	34671594	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	45317	34671594	100863153	2419	4484											
CUL2	8453	broad.mit.edu	37	chr10	35317808	35317808	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcctgagtaagaggccacGcaccagcctagaaggaaaaa	12	10	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:35317808G>T	uc010qer.2	-	15	1708	c.1604C>A	c.(1603-1605)gCg>gAg	p.A535E	CUL2_uc021ppa.1_Missense_Mutation_p.A529E|CUL2_uc009xma.3_Missense_Mutation_p.A385E|CUL2_uc001ixv.3_Missense_Mutation_p.A516E|CUL2_uc001ixw.3_Missense_Mutation_p.A516E|CUL2_uc010qes.2_Missense_Mutation_p.A453E	NM_001198778	NP_001185707	Q13617	CUL2_HUMAN	Homo sapiens cullin 2 (CUL2), transcript variant 1, mRNA.	516					G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AAGAGGCCACGCACCAGCCTA	0.318													T	35317808	G	T	35317808	3	4	4	1	0	0	0	0	1	0	0	0	4055	1087	38	5	714	5	CUL2	10	35317808	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	646214	35317808	100216939	2420	4485											
CCNY	219771	broad.mit.edu	37	chr10	35842076	35842076	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggctgtatggaatgtggatTactgccagatcctgaaagac	12	7	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:35842076T>C	uc001iyw.4	+	7	889	c.709T>C	c.(709-711)Tac>Cac	p.Y237H	CCNY_uc001iyu.4_Missense_Mutation_p.Y183H|CCNY_uc001iyv.4_Missense_Mutation_p.Y183H|CCNY_uc001iyx.4_Missense_Mutation_p.Y183H|CCNY_uc009xmb.3_Missense_Mutation_p.Y212H|CCNY_uc010qet.2_Missense_Mutation_p.Y104H	NM_145012	NP_859049	Q8ND76	CCNY_HUMAN	Homo sapiens cyclin Y (CCNY), transcript variant 1, mRNA.	237	Cyclin N-terminal.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						GAATGTGGATTACTGCCAGAT	0.527													C	35842076	T	C	35842076	3	2	4	1	0	0	0	0	1	0	0	0	2936	1754	61	3	739	3	CCNY	10	35842076	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	524268	35842076	99692671	2421	4486											
ANKRD30A	91074	broad.mit.edu	37	chr10	37442528	37442528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagactgtttcacagaaggAtgtgtgtttacccaaggcta	11	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:37442528A>G	uc021ppc.1	+	12	1667	c.1568A>G	c.(1567-1569)gAt>gGt	p.D523G	ANKRD30A_uc001iza.1_Missense_Mutation_p.D523G	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	579						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCACAGAAGGATGTGTGTTTA	0.294													G	37442528	A	G	37442528	3	3	4	1	0	0	0	0	1	0	0	0	658	333	12	3	1618	3	ANKRD30A	10	37442528	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1600452	37442528	98092219	2422	4487											
RET	5979	broad.mit.edu	37	chr10	43606686	43606686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtggaaaactgccaggCattcagtggcatcaacgtcc	11	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:43606686C>T	uc001jal.3	+	6	1485	c.1295C>T	c.(1294-1296)gCa>gTa	p.A432V	RET_uc001jak.1_Missense_Mutation_p.A432V|RET_uc010qez.1_Missense_Mutation_p.A178V	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	432			A -> E (in CCHS).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AACTGCCAGGCATTCAGTGGC	0.592		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				T	43606686	C	T	43606686	3	4	4	1	0	0	0	0	1	0	0	0	13235	710	25	2	1321	2	RET	10	43606686	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	6164158	43606686	91928061	2423	4488											
ZNF485	220992	broad.mit.edu	37	chr10	44111987	44111987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtaaagaatgtgggatcGcctttatgaacagttcatcc	9	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:44111987G>A	uc010qfc.2	+	4	690	c.496G>A	c.(496-498)Gcc>Acc	p.A166T	ZNF485_uc010qfd.2_Missense_Mutation_p.A75T	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	Homo sapiens zinc finger protein 485 (ZNF485), mRNA.	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						ATGTGGGATCGCCTTTATGAA	0.398													A	44111987	G	A	44111987	3	1	4	1	0	0	0	0	1	0	0	0	17935	1087	38	1	510	1	ZNF485	10	44111987	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	505301	44111987	91422760	2424	4489											
RASSF4	83937	broad.mit.edu	37	chr10	45480314	45480314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgcggaccaagagcgacGccagttgcatgagccagagg	15	10	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:45480314G>A	uc001jbp.3	+	4	2069	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	RASSF4_uc001jbo.3_Missense_Mutation_p.A143T|RASSF4_uc009xmn.3_Missense_Mutation_p.A73T|RASSF4_uc001jbq.3_Missense_Mutation_p.A40T|RASSF4_uc001jbt.3_Missense_Mutation_p.A100T			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	143	Ras-associating.				cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CAAGAGCGACGCCAGTTGCAT	0.637													A	45480314	G	A	45480314	3	1	4	1	0	0	0	0	1	0	0	0	13088	1087	38	1	445	1	RASSF4	10	45480314	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1368327	45480314	90054433	2425	4490											
RASSF4	83937	broad.mit.edu	37	chr10	45486467	45486467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggccatgtgagaagatcGccaggatcttcctgatggaa	13	8	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:45486467G>A	uc001jbp.3	+	7	2399	c.850G>A	c.(850-852)Gcc>Acc	p.A284T	RASSF4_uc001jbo.3_Missense_Mutation_p.A253T|RASSF4_uc009xmn.3_Missense_Mutation_p.A183T|RASSF4_uc001jbq.3_Missense_Mutation_p.A150T|RASSF4_uc001jbt.3_Missense_Mutation_p.A210T			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	253	SARAH.				cell cycle|signal transduction		protein binding	p.A253T(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGAGAAGATCGCCAGGATCTT	0.522													A	45486467	G	A	45486467	3	1	4	1	0	0	0	0	1	0	0	0	13088	1087	38	1	787	1	RASSF4	10	45486467	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	6153	45486467	90048280	2426	4491											
FAM21C	253725	broad.mit.edu	37	chr10	46224380	46224380	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatcaagaaacaagtggAcggactaatccgggaaacca	10	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:46224380A>G	uc001jcu.3	+	2	315	c.197A>G	c.(196-198)gAc>gGc	p.D66G	FAM21C_uc001jcs.2_Intron|FAM21C_uc010qfk.2_Missense_Mutation_p.D66G|FAM21C_uc010qfi.2_Missense_Mutation_p.D66G	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	Homo sapiens family with sequence similarity 21, member C (FAM21C), transcript variant 1, mRNA.	66										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						AAACAAGTGGACGGACTAATC	0.383													G	46224380	A	G	46224380	3	3	4	1	0	0	0	0	1	0	0	0	5542	275	10	3	207	3	FAM21C	10	46224380	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	737913	46224380	89310367	2427	4492											
GPRIN2	9721	broad.mit.edu	37	chr10	46999760	46999760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcattcccattgctgtGcccacctttggggtcccgct	11	15	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:46999760G>A	uc001jec.3	+	2	1015	c.880G>A	c.(880-882)Gcc>Acc	p.A294T	GPRIN2_uc021ppt.1_Missense_Mutation_p.A294T	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	294										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CCATTGCTGTGCCCACCTTTG	0.607													A	46999760	G	A	46999760	3	1	4	1	0	0	0	0	1	0	0	0	6730	1319	46	2	882	2	GPRIN2	10	46999760	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	775380	46999760	88534987	2428	4493											
PPYR1	5540	broad.mit.edu	37	chr10	47086901	47086901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgccaggattccgtggacGtgatggtcttcatcgtcact	11	10	3	1	rs148605550	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:47086901G>A	uc001jee.3	+	2	537	c.118G>A	c.(118-120)Gtg>Atg	p.V40M	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.V40M|PPYR1_uc021ppu.1_Missense_Mutation_p.V40M	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	40					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTCCGTGGACGTGATGGTCTT	0.532													A	47086901	G	A	47086901	3	1	4	1	0	0	0	0	1	0	0	0	12416	1145	40	1	120	1	PPYR1	10	47086901	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	87141	47086901	88447846	2429	4494											
PPYR1	5540	broad.mit.edu	37	chr10	47087502	47087502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatgcacgcatctaccggcGcctgcagaggcaggggcgcg	15	13	1	1	rs139014994		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:47087502G>A	uc001jee.3	+	2	1138	c.719G>A	c.(718-720)cGc>cAc	p.R240H	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.R240H|PPYR1_uc021ppu.1_Missense_Mutation_p.R240H	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	240			R -> C (in dbSNP:rs3824733).		blood circulation|digestion|feeding behavior	integral to plasma membrane		p.R240H(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ATCTACCGGCGCCTGCAGAGG	0.607													A	47087502	G	A	47087502	3	1	4	1	0	0	0	0	1	0	0	0	12416	1087	38	1	721	1	PPYR1	10	47087502	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	601	47087502	88447245	2430	4495											
RBP3	5949	broad.mit.edu	37	chr10	48389508	48389508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcgcaggacatatgggGccaacacacccaggacggag	14	13	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:48389508G>A	uc001jez.3	-	0	1484	c.1370C>T	c.(1369-1371)gCc>gTc	p.A457V		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	457	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GACATATGGGGCCAACACACC	0.627													A	48389508	G	A	48389508	3	1	4	1	0	0	0	0	1	0	0	0	13157	1203	42	2	2389	2	RBP3	10	48389508	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1302006	48389508	87145239	2431	4496											
GDF2	2658	broad.mit.edu	37	chr10	48414241	48414241	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggacccagcgcttcacggcGctggacacttccaaggtctc	11	16	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:48414241G>A	uc001jfa.1	-	1	787	c.627C>T	c.(625-627)agC>agT	p.S209S		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	209					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.S209R(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GCTTCACGGCGCTGGACACTT	0.572													A	48414241	G	A	48414241	2	1	4	1	0	0	0	0	0	0	0	1	6314	1078	38	1		1	GDF2	10	48414241	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	24733	48414241	87120506	2432	4497											
ARHGAP22	58504	broad.mit.edu	37	chr10	49654532	49654532	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	caacagctggttcctcctctCcgcatcctcccgcgcccgtt	7	20	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:49654532C>G	uc001jgu.3	-	9	2344	c.2047G>C	c.(2047-2049)Gag>Cag	p.E683Q	ARHGAP22_uc001jgs.3_Missense_Mutation_p.E577Q|ARHGAP22_uc001jgt.3_Missense_Mutation_p.E667Q|ARHGAP22_uc010qgl.2_Missense_Mutation_p.E624Q|ARHGAP22_uc010qgm.2_Missense_Mutation_p.E673Q|ARHGAP22_uc001jgv.3_Missense_Mutation_p.E365Q|ARHGAP22_uc001jgr.3_Missense_Mutation_p.E384Q	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	667					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	p.E667Q(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTCCTCCTCTCCGCATCCTCC	0.502													G	49654532	C	G	49654532	3	3	4	1	0	0	0	0	1	0	0	0	872	864	30	5	101	5	ARHGAP22	10	49654532	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1240291	49654532	85880215	2433	4498											
ERCC6	2074	broad.mit.edu	37	chr10	50701183	50701183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttttgtgggtataggaacCggtttcatgtagaattgcca	11	6	1	1	rs138758064	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:50701183C>T	uc001jhs.4	-	7	1955	c.1801G>A	c.(1801-1803)Ggt>Agt	p.G601S	ERCC6_uc010qgr.2_Intron|ERCC6_uc001jhr.4_5'UTR	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	601	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTATAGGAACCGGTTTCATGT	0.403								Direct reversal of damage;Nucleotide excision repair (NER)					T	50701183	C	T	50701183	3	4	4	1	0	0	0	0	1	0	0	0	5217	652	23	1	2736	1	ERCC6	10	50701183	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1046651	50701183	84833564	2434	4499											
SLC18A3	6572	broad.mit.edu	37	chr10	50819068	50819068	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaatgccagcgcctacacGgccaacacctcggcgtcccc	9	20	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:50819068G>A	uc001jhw.3	+	0	722	c.282G>A	c.(280-282)acG>acA	p.T94T	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.	94					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCGCCTACACGGCCAACACCT	0.726													A	50819068	G	A	50819068	2	1	4	1	0	0	0	0	0	0	0	1	14427	1103	39	1		1	SLC18A3	10	50819068	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	117885	50819068	84715679	2435	4500											
SLC18A3	6572	broad.mit.edu	37	chr10	50819793	50819793	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggctgccggccttcgTgcctcatgtgctgggcgtct	15	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:50819793T>C	uc001jhw.3	+	0	1447	c.1007T>C	c.(1006-1008)gTg>gCg	p.V336A	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	Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.	336					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CCGGCCTTCGTGCCTCATGTG	0.667													C	50819793	T	C	50819793	3	2	4	1	0	0	0	0	1	0	0	0	14427	1696	59	3	1009	3	SLC18A3	10	50819793	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	725	50819793	84714954	2436	4501											
PARG	8505	broad.mit.edu	37	chr10	51087787	51087787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatttcgtcgtggaaatgtGcagaagaaagcattagctaa	11	6	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:51087787G>A	uc001jih.3	-	9	2061	c.1920C>T	c.(1918-1920)tgC>tgT	p.C640C	PARG_uc009xoj.3_Silent_p.C191C|PARG_uc001jif.3_Silent_p.C640C|PARG_uc001jig.3_Silent_p.C226C|PARG_uc010qgv.2_Intron|PARG_uc009xoi.3_Intron|PARG_uc010qgw.2_Silent_p.C531C|PARG_uc010qgx.2_Silent_p.C558C	NM_003631	NP_003622	Q86W56	PARG_HUMAN	Homo sapiens poly (ADP-ribose) glycohydrolase (PARG), mRNA.	640					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity			endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		GTGGAAATGTGCAGAAGAAAG	0.383													A	51087787	G	A	51087787	2	1	4	1	0	0	0	0	0	0	0	1	11448	1311	46	2		2	PARG	10	51087787	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	267994	51087787	84446960	2437	4502											
A1CF	29974	broad.mit.edu	37	chr10	52575861	52575861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgcataggtctgggggGcatagaagacaggagctcca	15	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:52575861G>A	uc001jjj.3	-	8	1234	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V	A1CF_uc010qho.2_Missense_Mutation_p.A357V|A1CF_uc010qhn.2_Missense_Mutation_p.A357V|A1CF_uc009xov.3_Missense_Mutation_p.A349V|A1CF_uc001jji.3_Missense_Mutation_p.A349V|A1CF_uc001jjh.3_Missense_Mutation_p.A357V	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	349					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.A349D(2)|p.A357D(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGTCTGGGGGGCATAGAAGAC	0.517													A	52575861	G	A	52575861	3	1	4	1	0	0	0	0	1	0	0	0	2	1203	42	2	758	2	A1CF	10	52575861	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1488074	52575861	82958886	2438	4503											
PCDH15	65217	broad.mit.edu	37	chr10	55582282	55582282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagatgtttggtggatggGcaaaattttcaaaaatattt	11	2	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:55582282G>A	uc010qhy.1	-	34	5620	c.5225C>T	c.(5224-5226)gCc>gTc	p.A1742V	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.A1737V|PCDH15_uc021pqz.1_Missense_Mutation_p.A1712V|PCDH15_uc010qhv.1_Missense_Mutation_p.A1732V|PCDH15_uc010qhw.1_Missense_Mutation_p.A1695V|PCDH15_uc010qhx.1_Missense_Mutation_p.A1666V|PCDH15_uc010qhz.1_Missense_Mutation_p.A1737V|PCDH15_uc010qia.1_Missense_Mutation_p.A1715V|PCDH15_uc001jju.1_Missense_Mutation_p.A1735V|PCDH15_uc010qib.1_Missense_Mutation_p.A1712V	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1735					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.P1742L(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGTGGATGGGCAAAATTTTC	0.463										HNSCC(58;0.16)			A	55582282	G	A	55582282	3	1	4	1	0	0	0	0	1	0	0	0	11511	1203	42	2	2273	2	PCDH15	10	55582282	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3006421	55582282	79952465	2439	4504											
ANK3	288	broad.mit.edu	37	chr10	61844960	61844960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacacaatcttttataaacGtcaaaggagttgttcctgtg	8	7	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:61844960G>A	uc001jky.3	-	30	4138	c.3800C>T	c.(3799-3801)aCg>aTg	p.T1267M	ANK3_uc001jkw.3_Missense_Mutation_p.T401M|ANK3_uc009xpa.3_Missense_Mutation_p.T401M|ANK3_uc001jkx.3_Missense_Mutation_p.T445M|ANK3_uc010qih.2_Missense_Mutation_p.T1268M|ANK3_uc001jkz.4_Missense_Mutation_p.T1261M|ANK3_uc001jla.1_Missense_Mutation_p.T333M|ANK3_uc001jlb.1_Missense_Mutation_p.T785M|ANK3_uc001jkv.3_5'Flank	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1267					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTATAAACGTCAAAGGAGT	0.403													A	61844960	G	A	61844960	3	1	4	1	0	0	0	0	1	0	0	0	622	1145	40	1	9698	1	ANK3	10	61844960	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	6262678	61844960	73689787	2440	4505											
ZNF365	22891	broad.mit.edu	37	chr10	64136647	64136647	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggaaatgatagctgtacTgaggcaacgcctgacggaat	13	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:64136647T>C	uc001jmc.2	+	1	1010	c.695T>C	c.(694-696)cTg>cCg	p.L232P	ZNF365_uc001jly.4_Missense_Mutation_p.L247P|ZNF365_uc001jmb.4_Missense_Mutation_p.L232P|ZNF365_uc001jlz.4_Missense_Mutation_p.L232P|ZNF365_uc001jma.4_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATAGCTGTACTGAGGCAACGC	0.517													C	64136647	T	C	64136647	3	2	4	1	0	0	0	0	1	0	0	0	17866	1580	55	3	697	3	ZNF365	10	64136647	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	2291687	64136647	71398100	2441	4506											
EGR2	1959	broad.mit.edu	37	chr10	64575694	64575694	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatggtcaccgacgtggcGgcgaggtcctccaccgggta	15	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:64575694G>A	uc010qio.2	-	1	155	c.135C>T	c.(133-135)gcC>gcT	p.A45A	EGR2_uc010qim.2_Silent_p.A32A|EGR2_uc010qin.2_5'UTR|EGR2_uc001jmi.3_Silent_p.A32A|EGR2_uc009xph.3_Silent_p.A32A	NM_001136179	NP_001129651	P11161	EGR2_HUMAN	Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.	32					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	RNA polymerase II activating transcription factor binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.G45R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCGACGTGGCGGCGAGGTCCT	0.587													A	64575694	G	A	64575694	2	1	4	1	0	0	0	0	0	0	0	1	4972	1103	39	1		1	EGR2	10	64575694	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	439047	64575694	70959053	2442	4507											
JMJD1C	221037	broad.mit.edu	37	chr10	64979728	64979728	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccctgagaactgggtttaGgctgtctatgtcgtcctaga	12	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:64979728G>A	uc001jmn.3	-	3	763	c.463C>T	c.(463-465)Cta>Tta	p.L155L	JMJD1C_uc001jml.3_Intron|JMJD1C_uc001jmm.3_5'UTR|JMJD1C_uc010qiq.2_5'UTR|JMJD1C_uc009xpi.3_5'UTR|JMJD1C_uc009xpj.2_Intron|JMJD1C_uc001jmp.1_Intron	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	155					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ACTGGGTTTAGGCTGTCTATG	0.413													A	64979728	G	A	64979728	2	1	4	1	0	0	0	0	0	0	0	1	7950	991	35	4		4	JMJD1C	10	64979728	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	404034	64979728	70555019	2443	4508											
MYPN	84665	broad.mit.edu	37	chr10	69935180	69935180	+	Frame_Shift_Del	DEL	A	A	-													cagtgattcgagacttggggAaaaaaataactttcagtgat							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:69935179_69935179GA>G	uc001jnm.4	+	12	2849	c.2664_2664GA>G	c.(2662-2664)gggfs	p.G888fs	MYPN_uc001jnn.4_Frame_Shift_Del_p.G613fs|MYPN_uc001jno.4_Frame_Shift_Del_p.G888fs|MYPN_uc009xpt.3_Frame_Shift_Del_p.G888fs|MYPN_uc010qit.2_Frame_Shift_Del_p.G594fs|MYPN_uc010qiu.2_Intron	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	888						nucleus|sarcomere	actin binding	p.G888G(2)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GAGACTTGGGGAAAAAAATAA	0.363													-	69935180	A	-	69935180	7	5	4	1	0	1	0	1	0	0	0	0	10098	247	9	0	2707	0	MYPN	10	69935180	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	4955452	69935180	65599567	2444	4509											
TET1	80312	broad.mit.edu	37	chr10	70446141	70446141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaactcgagaagataaccGctctttgggtgttattcctc	8	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:70446141G>A	uc001jok.4	+	10	5586	c.5081G>A	c.(5080-5082)cGc>cAc	p.R1694H		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1694					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAAGATAACCGCTCTTTGGGT	0.438													A	70446141	G	A	70446141	3	1	4	1	0	0	0	0	1	0	0	0	15766	1087	38	1	5119	1	TET1	10	70446141	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	510961	70446141	65088606	2445	4510											
STOX1	219736	broad.mit.edu	37	chr10	70644170	70644170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaaaataagagaatgctGccatcagatgaaagtcgcct	10	8	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:70644170G>A	uc001jos.2	+	2	705	c.618G>A	c.(616-618)ctG>ctA	p.L206L	STOX1_uc001joq.3_Silent_p.L96L|STOX1_uc001jor.3_Silent_p.L206L|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Silent_p.L96L	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	206						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AGAGAATGCTGCCATCAGATG	0.453													A	70644170	G	A	70644170	2	1	4	1	0	0	0	0	0	0	0	1	15318	1306	46	2		2	STOX1	10	70644170	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	198029	70644170	64890577	2446	4511											
STOX1	219736	broad.mit.edu	37	chr10	70644504	70644504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggttttagtctcttatggCgcagcttatctagaaaggag	11	6	2	1	rs149218532	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:70644504C>T	uc001jos.2	+	2	1039	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	STOX1_uc001joq.3_Missense_Mutation_p.R208C|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Missense_Mutation_p.R208C	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	318						cytoplasm|nucleolus	DNA binding	p.R318H(1)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TCTCTTATGGCGCAGCTTATC	0.453													T	70644504	C	T	70644504	3	4	4	1	0	0	0	0	1	0	0	0	15318	768	27	1	962	1	STOX1	10	70644504	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	334	70644504	64890243	2447	4512											
HKDC1	80201	broad.mit.edu	37	chr10	71017128	71017128	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgaatgatacagtggggAccatgatgacctgtggctat	13	7	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:71017128A>G	uc001jpf.4	+	13	2111	c.1978A>G	c.(1978-1980)Acc>Gcc	p.T660A	HKDC1_uc010qje.2_Missense_Mutation_p.T523A|HKDC1_uc009xqb.3_Non-coding_Transcript	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	660					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	p.T660T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TACAGTGGGGACCATGATGAC	0.438													G	71017128	A	G	71017128	3	3	4	1	0	0	0	0	1	0	0	0	7193	275	10	3	2032	3	HKDC1	10	71017128	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	372624	71017128	64517619	2448	4513											
TSPAN15	23555	broad.mit.edu	37	chr10	71265925	71265925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgcggggctgcaccaacGccgtgatcatctggttcatg	13	12	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:71265925G>A	uc001jpo.1	+	6	789	c.664G>A	c.(664-666)Gcc>Acc	p.A222T		NM_012339	NP_036471	O95858	TSN15_HUMAN	Homo sapiens tetraspanin 15 (TSPAN15), mRNA.	222						integral to plasma membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						CTGCACCAACGCCGTGATCAT	0.612													A	71265925	G	A	71265925	3	1	4	1	0	0	0	0	1	0	0	0	16636	1087	38	1	690	1	TSPAN15	10	71265925	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	248797	71265925	64268822	2449	4514											
NODAL	4838	broad.mit.edu	37	chr10	72195099	72195099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacaggattaggacactcGccctcacagcgataggcgtt	10	13	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:72195099G>A	uc001jrc.2	-	1	876	c.834C>T	c.(832-834)ggC>ggT	p.G278G		NM_018055	NP_060525	Q96S42	NODAL_HUMAN	Homo sapiens nodal homolog (mouse) (NODAL), mRNA.	278					growth	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						TAGGACACTCGCCCTCACAGC	0.572													A	72195099	G	A	72195099	2	1	4	1	0	0	0	0	0	0	0	1	10518	1074	38	1		1	NODAL	10	72195099	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	929174	72195099	63339648	2450	4515											
ECD	11319	broad.mit.edu	37	chr10	74899444	74899444	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtcttctatatcaaatggTattgtctgtaataaggttaa	8	4	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:74899444T>C	uc009xqx.3	-	10	1521	c.1278A>G	c.(1276-1278)atA>atG	p.I426M	ECD_uc001jtn.3_Missense_Mutation_p.I393M|ECD_uc009xqy.3_Missense_Mutation_p.I350M|ECD_uc001jto.3_Missense_Mutation_p.I92M	NM_001135752	NP_001129224	O95905	SGT1_HUMAN	Homo sapiens ecdysoneless homolog (Drosophila) (ECD), transcript variant 2, mRNA.	393					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TATCAAATGGTATTGTCTGTA	0.343													C	74899444	T	C	74899444	3	2	4	1	0	0	0	0	1	0	0	0	4888	1628	57	3	775	3	ECD	10	74899444	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	2704345	74899444	60635303	2451	4516											
ECD	11319	broad.mit.edu	37	chr10	74916042	74916042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttttcttaccctctgatgCgcctattcacagcagctcgt	6	13	3	1	rs149473721		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:74916042C>T	uc009xqx.3	-	4	824	c.581G>A	c.(580-582)cGc>cAc	p.R194H	ECD_uc001jtn.3_Missense_Mutation_p.R194H|ECD_uc009xqy.3_Missense_Mutation_p.R194H|ECD_uc001jto.3_5'UTR	NM_001135752	NP_001129224	O95905	SGT1_HUMAN	Homo sapiens ecdysoneless homolog (Drosophila) (ECD), transcript variant 2, mRNA.	194					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					CCCTCTGATGCGCCTATTCAC	0.368													T	74916042	C	T	74916042	3	4	4	1	0	0	0	0	1	0	0	0	4888	768	27	1	1496	1	ECD	10	74916042	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	16598	74916042	60618705	2452	4517											
TTC18	118491	broad.mit.edu	37	chr10	75071669	75071669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagattttatactaggtgCctgctgaaagaaaatgaaca	9	6	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:75071669C>T	uc009xrc.3	-	11	1418	c.1297G>A	c.(1297-1299)Gca>Aca	p.A433T	TTC18_uc001jty.3_Missense_Mutation_p.A433T|TTC18_uc009xrd.1_Missense_Mutation_p.A241T	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	433							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ATACTAGGTGCCTGCTGAAAG	0.393													T	75071669	C	T	75071669	3	4	4	1	0	0	0	0	1	0	0	0	16682	739	26	2	2136	2	TTC18	10	75071669	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	155627	75071669	60463078	2453	4518											
USP54	159195	broad.mit.edu	37	chr10	75290490	75290490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtatcccgaggcctggggCtcatcgcctttcctcctaac	10	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:75290490C>T	uc001juo.3	-	10	1436	c.1419G>A	c.(1417-1419)gaG>gaA	p.E473E	USP54_uc001juk.3_5'UTR|USP54_uc001jul.3_5'UTR|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript|USP54_uc001jup.3_Silent_p.E473E|U6_uc021ptn.1_5'Flank|USP54_uc010qkl.1_Silent_p.E473E	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	473					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AGGCCTGGGGCTCATCGCCTT	0.498													T	75290490	C	T	75290490	2	4	4	1	0	0	0	0	0	0	0	1	17082	796	28	2		2	USP54	10	75290490	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	218821	75290490	60244257	2454	4519											
KCNMA1	3778	broad.mit.edu	37	chr10	78647147	78647147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcttgctggaggactgCgacgagtgggaggaatggga	17	7	2	0	rs75138661		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:78647147C>T	uc001jxn.3	-	27	3765	c.3588G>A	c.(3586-3588)tcG>tcA	p.S1196S	KCNMA1_uc021ptu.1_Silent_p.S1088S|KCNMA1_uc001jxj.2_Silent_p.S1142S|KCNMA1_uc001jxk.1_Silent_p.S814S|KCNMA1_uc009xrt.1_Silent_p.S987S|KCNMA1_uc001jxl.1_Silent_p.S821S|KCNMA1_uc001jxo.3_Silent_p.S1179S|KCNMA1_uc001jxm.3_Silent_p.S1138S|KCNMA1_uc001jxq.3_Silent_p.S1168S|BC030624_uc001jxp.3_5'Flank	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	1196					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TGGAGGACTGCGACGAGTGGG	0.582													T	78647147	C	T	78647147	2	4	4	1	0	0	0	0	0	0	0	1	8073	755	27	1		1	KCNMA1	10	78647147	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3356657	78647147	56887600	2455	4520											
KCNMA1	3778	broad.mit.edu	37	chr10	78709065	78709065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagggctgagctgacgtcGccaaagatgcagaccacgac	12	12	1	4	rs139475681		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:78709065G>A	uc001jxn.3	-	21	2721	c.2544C>T	c.(2542-2544)ggC>ggT	p.G848G	KCNMA1_uc021ptu.1_Silent_p.G740G|KCNMA1_uc001jxj.2_Silent_p.G794G|KCNMA1_uc001jxk.1_Silent_p.G466G|KCNMA1_uc009xrt.1_Silent_p.G639G|KCNMA1_uc001jxl.1_Silent_p.G473G|KCNMA1_uc001jxo.3_Silent_p.G831G|KCNMA1_uc001jxm.3_Silent_p.G790G|KCNMA1_uc001jxq.3_Silent_p.G793G	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	848	Segment S9.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.T847M(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AGCTGACGTCGCCAAAGATGC	0.552													A	78709065	G	A	78709065	2	1	4	1	0	0	0	0	0	0	0	1	8073	1074	38	1		1	KCNMA1	10	78709065	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	61918	78709065	56825682	2456	4521											
DLG5	9231	broad.mit.edu	37	chr10	79554687	79554687	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagccgctcaatagcgtgCggagcaatgtccaggaggca	15	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:79554687C>T	uc001jzk.3	-	29	5536	c.5466G>A	c.(5464-5466)ccG>ccA	p.P1822P	DLG5_uc001jzi.3_Silent_p.P577P|DLG5_uc001jzj.3_Silent_p.P1237P	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1822	Guanylate kinase-like.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CAATAGCGTGCGGAGCAATGT	0.622													T	79554687	C	T	79554687	2	4	4	1	0	0	0	0	0	0	0	1	4558	755	27	1		1	DLG5	10	79554687	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	845622	79554687	55980060	2457	4522											
NRG3	10718	broad.mit.edu	37	chr10	83635649	83635649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgcgctccaccacagcaCggaacactgcggcccctgcg	11	20	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:83635649C>T	uc021pvc.1	+	0	580	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	NRG3_uc010qlz.1_Missense_Mutation_p.R185W|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.R185W|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank|NRG3_uc021pvd.1_5'Flank|NRG3_uc021pve.1_5'Flank|NRG3_uc021pvf.1_5'Flank|NRG3_uc021pvg.1_5'Flank|NRG3_uc021pvh.1_5'Flank|NRG3_uc021pvi.1_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	185	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.R185W(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CACCACAGCACGGAACACTGC	0.706													T	83635649	C	T	83635649	3	4	4	1	0	0	0	0	1	0	0	0	10649	527	19	1	555	1	NRG3	10	83635649	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4080962	83635649	51899098	2458	4523											
NRG3	10718	broad.mit.edu	37	chr10	84745044	84745044	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctgcaaatgccagggAtttctgaagtcaaaagcatc	9	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:84745044A>G	uc021pvc.1	+	9	1873	c.1846A>G	c.(1846-1848)Att>Gtt	p.I616V	NRG3_uc010qlz.1_Missense_Mutation_p.I591V|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.I592V|NRG3_uc001kcp.2_Missense_Mutation_p.I395V|NRG3_uc001kcq.2_Missense_Mutation_p.I242V|NRG3_uc021pvd.1_Missense_Mutation_p.I371V|NRG3_uc021pve.1_Missense_Mutation_p.I396V|NRG3_uc021pvf.1_Missense_Mutation_p.I242V|NRG3_uc021pvg.1_Missense_Mutation_p.I420V|NRG3_uc021pvh.1_Missense_Mutation_p.I204V|NRG3_uc021pvi.1_Missense_Mutation_p.I422V|NRG3_uc021pvk.1_Missense_Mutation_p.I132V|NRG3_uc001kcr.2_Missense_Mutation_p.I266V|NRG3_uc021pvl.1_Missense_Mutation_p.I242V	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	616					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AATGCCAGGGATTTCTGAAGT	0.468													G	84745044	A	G	84745044	3	3	4	1	0	0	0	0	1	0	0	0	10649	333	12	3	2052	3	NRG3	10	84745044	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1109395	84745044	50789703	2459	4524											
LRIT1	26103	broad.mit.edu	37	chr10	86001151	86001151	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccccgggcctgggggggCcacgcaagggccaagagcca	17	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:86001151C>T	uc001kcz.1	-	0	67	c.45G>A	c.(43-45)tgG>tgA	p.W15*		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	15						integral to endoplasmic reticulum membrane		p.A14A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CCTGGGGGGGCCACGCAAGGG	0.672													T	86001151	C	T	86001151	4	4	4	1	0	0	0	0	0	1	0	0	8947	740	26	2	1842	2	LRIT1	10	86001151	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1256107	86001151	49533596	2460	4525											
OPN4	94233	broad.mit.edu	37	chr10	88416037	88416037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatgctgggcaacctgacGgtcatctataccttctgcag	12	11	3	1	rs150600156		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:88416037G>A	uc010qmk.1	+	1	497	c.270G>A	c.(268-270)acG>acA	p.T90T	OPN4_uc001kdp.3_Silent_p.T90T|OPN4_uc001kdq.3_Silent_p.T90T	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	90					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GCAACCTGACGGTCATCTATA	0.602													A	88416037	G	A	88416037	2	1	4	1	0	0	0	0	0	0	0	1	10882	1103	39	1		1	OPN4	10	88416037	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2414886	88416037	47118710	2461	4526											
PTEN	5728	broad.mit.edu	37	chr10	89717713	89717713	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactttgagttccctcagccGttacctgtgtgtggtgatat	10	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:89717713G>A	uc001kfb.3	+	6	1770	c.738G>A	c.(736-738)ccG>ccA	p.P246P	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	246	C2 tensin-type.		P -> L (in CD and BZS).		T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.P246L(8)|p.Q245*(8)|p.P246fs*10(6)|p.R55fs*1(5)|p.P246fs*3(2)|p.P246fs*11(2)|p.L247fs*10(2)|p.N212fs*1(2)|p.P246_L247insGP(2)|p.Y27fs*1(2)|p.P246fs*9(1)|p.P246fs*14(1)|p.P246fs*12(1)|p.Q245fs*8(1)|p.L247fs*11(1)|p.L247fs*12(1)|p.?(1)|p.F243fs*9(1)|p.Q245fs*20(1)|p.G165_K342del(1)|p.L247fs*8(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCCCTCAGCCGTTACCTGTGT	0.413		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89717713	G	A	89717713	2	1	4	1	0	0	0	0	0	0	0	1	12738	1132	40	1		1	PTEN	10	89717713	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1301676	89717713	45817034	2462	4527											
LIPJ	142910	broad.mit.edu	37	chr10	90354523	90354523	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgtaggccattcacagggTactactattggtatgccaag	10	8	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:90354523T>C	uc001kff.3	+	5	743	c.429T>C	c.(427-429)ggT>ggC	p.G143G		NM_001010939	NP_001010939	Q5W064	LIPJ_HUMAN	Homo sapiens lipase, family member J (LIPJ), mRNA.	143					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		ATTCACAGGGTACTACTATTG	0.348													C	90354523	T	C	90354523	2	2	4	1	0	0	0	0	0	0	0	1	8826	1625	57	3		3	LIPJ	10	90354523	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	636810	90354523	45180224	2463	4528											
PCGF5	84333	broad.mit.edu	37	chr10	93024260	93024260	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatctacatgacaagatggCgactaagaggcgaaaacgta	10	8	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:93024260C>T	uc001khi.3	+	7	1054	c.646C>T	c.(646-648)Cga>Tga	p.R216*	PCGF5_uc001khh.3_Nonsense_Mutation_p.R216*|PCGF5_uc010qnk.2_Nonsense_Mutation_p.R216*	NM_032373	NP_115749	Q86SE9	PCGF5_HUMAN	Homo sapiens polycomb group ring finger 5 (PCGF5), mRNA.	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|centrosome	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						GACAAGATGGCGACTAAGAGG	0.294													T	93024260	C	T	93024260	4	4	4	1	0	0	0	0	0	1	0	0	11577	760	27	1	672	1	PCGF5	10	93024260	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2669737	93024260	42510487	2464	4529											
TNKS2	80351	broad.mit.edu	37	chr10	93600363	93600363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcagagacattgaagggCgtcagtctacaccacttcat	9	11	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:93600363C>T	uc001khp.3	+	13	1870	c.1573C>T	c.(1573-1575)Cgt>Tgt	p.R525C		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.	525					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CATTGAAGGGCGTCAGTCTAC	0.418													T	93600363	C	T	93600363	3	4	4	1	0	0	0	0	1	0	0	0	16318	768	27	1	1627	1	TNKS2	10	93600363	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	576103	93600363	41934384	2465	4530											
BTAF1	9044	broad.mit.edu	37	chr10	93726433	93726433	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttagttccacgtgtctgGccttttttgcatcacactat	7	10	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:93726433G>A	uc001khr.3	+	13	1667	c.1569G>A	c.(1567-1569)tgG>tgA	p.W523*	BTAF1_uc001khs.1_Nonsense_Mutation_p.W193*|BTAF1_uc001kht.1_5'UTR	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	523					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CACGTGTCTGGCCTTTTTTGC	0.348													A	93726433	G	A	93726433	4	1	4	1	0	0	0	0	0	1	0	0	1536	1212	42	2	1623	2	BTAF1	10	93726433	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	126070	93726433	41808314	2466	4531											
MYOF	26509	broad.mit.edu	37	chr10	95119595	95119595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgcttctcttacccttgCggtgcttgaagcagtctgtg	10	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:95119595C>T	uc001kin.3	-	28	3238	c.3115G>A	c.(3115-3117)Gca>Aca	p.A1039T	MYOF_uc001kio.3_Missense_Mutation_p.A1026T|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1039					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTTACCCTTGCGGTGCTTGAA	0.498													T	95119595	C	T	95119595	3	4	4	1	0	0	0	0	1	0	0	0	10089	768	27	1	3174	1	MYOF	10	95119595	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1393162	95119595	40415152	2467	4532											
PDE6C	5146	broad.mit.edu	37	chr10	95399901	95399901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttcccccttacagagcaCggattgattaaatgtggaat	9	9	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:95399901C>T	uc001kiu.4	+	11	1695	c.1557C>T	c.(1555-1557)caC>caT	p.H519H		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	519					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTACAGAGCACGGATTGATTA	0.408													T	95399901	C	T	95399901	2	4	4	1	0	0	0	0	0	0	0	1	11647	535	19	1		1	PDE6C	10	95399901	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	280306	95399901	40134846	2468	4533											
FRA10AC1	118924	broad.mit.edu	37	chr10	95459788	95459788	+	Splice_Site	DEL	T	T	-													ataaaaaaaaattacttaccTttttttccttttgctggatt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:95459787_95459787CT>C	uc001kiz.2	-	2	275	c.77_splice	c.e2+1	p.R26_splice	FRA10AC1_uc001kiv.2_Splice_Site|FRA10AC1_uc001kjb.1_Splice_Site_p.R26_splice|FRA10AC1_uc009xuh.1_Splice_Site_p.R27_splice	NM_145246	NP_660289	Q70Z53	F10C1_HUMAN	Homo sapiens fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 (FRA10AC1), mRNA.	26						nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						AATTACTTACCTTTTTTTCCT	0.308													-	95459788	T	-	95459788	8	5	4	1	0	1	0	1	0	0	1	0	6041	1623	56	0	923	0	FRA10AC1	10	95459788	Splice_Site	DEL	T	TCGA-BR-4184-01A-01D-1126-08	59887	95459788	40074959	2469	4534											
PLCE1	51196	broad.mit.edu	37	chr10	96005833	96005833	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcatcccttggtacgtgCtgtccatccaagccgatgtg	10	13	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:96005833C>T	uc001kjk.3	+	7	3185	c.2551C>T	c.(2551-2553)Ctg>Ttg	p.L851L	PLCE1_uc010qnx.2_Silent_p.L851L|PLCE1_uc001kjm.3_Silent_p.L543L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	851					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTGGTACGTGCTGTCCATCCA	0.562													T	96005833	C	T	96005833	2	4	4	1	0	0	0	0	0	0	0	1	12034	796	28	2		2	PLCE1	10	96005833	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	546045	96005833	39528914	2470	4535											
CYP2C19	1557	broad.mit.edu	37	chr10	96447543	96447543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagttctcaaaagtctatgGccctgtgttcactgtgtatt	8	8	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:96447543G>A	uc001kjv.4	+	1	511	c.185G>A	c.(184-186)gGc>gAc	p.G62D	CYP2C19_uc001kjw.4_Missense_Mutation_p.G62D|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.2_5'Flank	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	62					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AAAGTCTATGGCCCTGTGTTC	0.403													A	96447543	G	A	96447543	3	1	4	1	0	0	0	0	1	0	0	0	4166	1203	42	2		2	CYP2C19	10	96447543	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	441710	96447543	39087204	2471	4536											
CYP2C19	1557	broad.mit.edu	37	chr10	96495057	96495057	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagagggcctggcccgcatGgagctgtttttattcctgac	14	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:96495057G>T	uc001kjv.4	+	8	1655	c.1329G>T	c.(1327-1329)atG>atT	p.M443I	CYP2C19_uc001kjw.4_Missense_Mutation_p.M384I|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	443					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.R442H(2)|p.M443I(2)|p.R442L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TGGCCCGCATGGAGCTGTTTT	0.443													T	96495057	G	T	96495057	3	4	4	1	0	0	0	0	1	0	0	0	4166	1348	47	5		5	CYP2C19	10	96495057	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	47514	96495057	39039690	2472	4537											
CYP2C19	1557	broad.mit.edu	37	chr10	96540303	96540303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctgtgctccctgcaatGtgatctgctccattattttc	9	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:96540303G>A	uc010qnz.2	+	3	529	c.529G>A	c.(529-531)Gtg>Atg	p.V177M	CYP2C19_uc009xus.1_Missense_Mutation_p.V42M|CYP2C19_uc010qny.2_Missense_Mutation_p.V155M	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	177					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TCCCTGCAATGTGATCTGCTC	0.348													A	96540303	G	A	96540303	3	1	4	1	0	0	0	0	1	0	0	0	4166	1377	48	4	543	4	CYP2C19	10	96540303	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	45246	96540303	38994444	2473	4538											
CYP2C19	1557	broad.mit.edu	37	chr10	96602642	96602642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgttggcagaaaccggagccCctgcatgcaggacaggggcc	15	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:96602642C>A	uc010qnz.2	+	6	1010	c.1010C>A	c.(1009-1011)cCc>cAc	p.P337H	CYP2C19_uc010qny.2_Missense_Mutation_p.P315H	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	337					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AACCGGAGCCCCTGCATGCAG	0.532													A	96602642	C	A	96602642	3	1	4	1	0	0	0	0	1	0	0	0	4166	623	22	5	1036	5	CYP2C19	10	96602642	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	62339	96602642	38932105	2474	4539											
ALDH18A1	5832	broad.mit.edu	37	chr10	97371048	97371048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacatccgtgtgggagctgCcatacttgtggatgtggtca	14	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:97371048C>T	uc001kkz.3	-	15	2317	c.2075G>A	c.(2074-2076)gGc>gAc	p.G692D	ALDH18A1_uc001kky.3_Missense_Mutation_p.G690D|ALDH18A1_uc010qog.2_Missense_Mutation_p.G581D|ALDH18A1_uc010qoh.2_Missense_Mutation_p.G480D	NM_002860	NP_002851	P54886	P5CS_HUMAN	Homo sapiens aldehyde dehydrogenase 18 family, member A1 (ALDH18A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	692	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	GTGGGAGCTGCCATACTTGTG	0.512													T	97371048	C	T	97371048	3	4	4	1	0	0	0	0	1	0	0	0	489	739	26	2	324	2	ALDH18A1	10	97371048	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	768406	97371048	38163699	2475	4540											
ENTPD1	953	broad.mit.edu	37	chr10	97605259	97605259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agataatgctctgcaatttcGcctctatggcaaggactaca	8	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:97605259G>A	uc010qoj.2	+	5	818	c.755G>A	c.(754-756)cGc>cAc	p.R252H	ENTPD1_uc001kle.1_Missense_Mutation_p.R247H|ENTPD1_uc001kli.4_Missense_Mutation_p.R247H|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_Missense_Mutation_p.R132H|ENTPD1_uc010qol.2_Missense_Mutation_p.R132H|ENTPD1_uc001klh.4_Missense_Mutation_p.R240H|ENTPD1_uc010qom.2_Missense_Mutation_p.R240H|ENTPD1_uc010qon.2_Missense_Mutation_p.R102H|ENTPD1_uc009xva.3_Missense_Mutation_p.R102H	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.	240					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		CTGCAATTTCGCCTCTATGGC	0.488													A	97605259	G	A	97605259	3	1	4	1	0	0	0	0	1	0	0	0	5138	1087	38	1	838	1	ENTPD1	10	97605259	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	234211	97605259	37929488	2476	4541											
CCNJ	54619	broad.mit.edu	37	chr10	97816981	97816981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcttgggatttcttagtGcagtgtattgaacgactgtt	10	6	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:97816981G>A	uc010qoq.2	+	4	1076	c.717G>A	c.(715-717)gtG>gtA	p.V239V	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CCNJ_uc001klm.3_Silent_p.V228V|CCNJ_uc001kln.3_Silent_p.V227V	NM_001134375	NP_001127847	Q5T5M9	CCNJ_HUMAN	Homo sapiens cyclin J (CCNJ), transcript variant 1, mRNA.	228						nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		ATTTCTTAGTGCAGTGTATTG	0.413													A	97816981	G	A	97816981	2	1	4	1	0	0	0	0	0	0	0	1	2928	1306	46	2		2	CCNJ	10	97816981	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	211722	97816981	37717766	2477	4542											
TLL2	7093	broad.mit.edu	37	chr10	98138803	98138803	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctcccgaaggtgttgacGcactcatgctgacacccgcc	10	15	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:98138803G>A	uc001kml.2	-	16	2482	c.2241C>T	c.(2239-2241)tgC>tgT	p.C747C		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	747	EGF-like 2; calcium-binding (Potential).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AGGTGTTGACGCACTCATGCT	0.552													A	98138803	G	A	98138803	2	1	4	1	0	0	0	0	0	0	0	1	15943	1079	38	1		1	TLL2	10	98138803	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	321822	98138803	37395944	2478	4543											
C10orf12	26148	broad.mit.edu	37	chr10	98742563	98742563	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggacggtgatgtaaaatgCctgtcagaaaaagacacgta	12	6	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:98742563C>A	uc001kmv.3	+	0	1523	c.1416C>A	c.(1414-1416)tgC>tgA	p.C472*	C10orf12_uc009xvg.2_Nonsense_Mutation_p.C782*	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	472										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ATGTAAAATGCCTGTCAGAAA	0.418													A	98742563	C	A	98742563	4	1	4	1	0	0	0	0	0	1	0	0	1589	747	26	5	1418	5	C10orf12	10	98742563	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	603760	98742563	36792184	2479	4544											
ARHGAP19	84986	broad.mit.edu	37	chr10	99019239	99019239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcttgtcttgtttctttgCtgtctggtataggagatcaa	10	6	5	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:99019239C>T	uc001knb.3	-	4	806	c.760G>A	c.(760-762)Gca>Aca	p.A254T	ARHGAP19_uc001kmy.3_Non-coding_Transcript|ARHGAP19_uc001kna.3_Missense_Mutation_p.A245T|ARHGAP19_uc009xvj.3_Missense_Mutation_p.A254T|ARHGAP19_uc009xvi.3_Non-coding_Transcript|ARHGAP19_uc009xvk.3_Missense_Mutation_p.A48T	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA.	254	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		TGTTTCTTTGCTGTCTGGTAT	0.458													T	99019239	C	T	99019239	3	4	4	1	0	0	0	0	1	0	0	0	869	797	28	2	756	2	ARHGAP19	10	99019239	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	276676	99019239	36515508	2480	4545											
RRP12	23223	broad.mit.edu	37	chr10	99120319	99120319	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttggtactgagggggTatctccagctcctcctcctc	9	15	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:99120319T>C	uc001knf.3	-	30	3763	c.3624A>G	c.(3622-3624)atA>atG	p.I1208M	RRP12_uc001kne.3_Missense_Mutation_p.I223M|RRP12_uc009xvl.3_Missense_Mutation_p.I325M|RRP12_uc009xvm.3_Missense_Mutation_p.I926M|RRP12_uc010qou.2_Missense_Mutation_p.I1147M|RRP12_uc009xvn.3_Missense_Mutation_p.I1108M	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	1208						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		ACTGAGGGGGTATCTCCAGCT	0.552													C	99120319	T	C	99120319	3	2	4	1	0	0	0	0	1	0	0	0	13686	1628	57	3	285	3	RRP12	10	99120319	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	101080	99120319	36414428	2481	4546											
EXOSC1	51013	broad.mit.edu	37	chr10	99200984	99200984	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccccacatacaggatgtgTactttggcaaagcgtgaatt	10	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:99200984T>C	uc001kni.3	-	3	281	c.255A>G	c.(253-255)gtA>gtG	p.V85V	EXOSC1_uc009xvp.1_Non-coding_Transcript	NM_016046	NP_057130	Q9Y3B2	EXOS1_HUMAN	Homo sapiens exosome component 1 (EXOSC1), mRNA.	85	S1 motif.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	RNA binding|protein binding			breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		ACAGGATGTGTACTTTGGCAA	0.428													C	99200984	T	C	99200984	2	2	4	1	0	0	0	0	0	0	0	1	5313	1625	57	3		3	EXOSC1	10	99200984	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	80665	99200984	36333763	2482	4547											
LOXL4	84171	broad.mit.edu	37	chr10	100021879	100021879	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccctacgtcttctgagtgActgcagtcactgactcccca	7	16	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:100021879A>G	uc001kpa.1	-	2	520	c.369T>C	c.(367-369)agT>agC	p.S123S		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	Homo sapiens lysyl oxidase-like 4 (LOXL4), mRNA.	123	SRCR 1.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CTTCTGAGTGACTGCAGTCAC	0.597													G	100021879	A	G	100021879	2	3	4	1	0	0	0	0	0	0	0	1	8902	272	10	3		3	LOXL4	10	100021879	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	820895	100021879	35512868	2483	4548											
PYROXD2	84795	broad.mit.edu	37	chr10	100152769	100152769	+	Frame_Shift_Del	DEL	C	C	-													catcagagagggcacccatgCccccctggacgtagccccag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:100152768_100152768GC>G	uc001kpc.3	-	8	944	c.858_858GC>C	c.(856-858)ggcfs	p.G286fs	PYROXD2_uc001kpb.3_Non-coding_Transcript	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	286							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GGGCACCCATGCCCCCCTGGA	0.602													-	100152769	C	-	100152769	7	5	4	1	0	1	0	1	0	0	0	0	12867	739	26	0	920	0	PYROXD2	10	100152769	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	130890	100152769	35381978	2484	4549											
PYROXD2	84795	broad.mit.edu	37	chr10	100155209	100155209	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggctcccaggatgcggCctacaagagaagatccacaa	12	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:100155209C>T	uc001kpc.3	-	7	712	c.626_splice	c.e7-1	p.G209_splice	PYROXD2_uc001kpb.3_Splice_Site|PYROXD2_uc010qpe.2_Splice_Site_p.G209_splice|PYROXD2_uc021pwu.1_5'Flank	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	209							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CAGGATGCGGCCTACAAGAGA	0.557													T	100155209	C	T	100155209	5	4	4	1	0	0	0	0	0	0	1	0	12867	753	26	2	1159	2	PYROXD2	10	100155209	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2440	100155209	35379538	2485	4550											
GOT1	2805	broad.mit.edu	37	chr10	101157412	101157412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggcagcaggtagatgtgCttttcattgaccagatactc	10	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:101157412C>T	uc001kpr.3	-	8	1342	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K		NM_002079	NP_002070	P17174	AATC_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) (GOT1), mRNA.	378					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGTAGATGTGCTTTTCATTGA	0.458													T	101157412	C	T	101157412	2	4	4	1	0	0	0	0	0	0	0	1	6579	796	28	2		2	GOT1	10	101157412	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1002203	101157412	34377335	2486	4551											
ABCC2	1244	broad.mit.edu	37	chr10	101560202	101560202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggattggatatctctgtgCaatcctcttattcactgcgg	10	9	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:101560202C>T	uc001kqf.2	+	8	1230	c.1091C>T	c.(1090-1092)gCa>gTa	p.A364V		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	364	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.A364V(2)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TATCTCTGTGCAATCCTCTTA	0.443													T	101560202	C	T	101560202	3	4	4	1	0	0	0	0	1	0	0	0	53	710	25	2	1125	2	ABCC2	10	101560202	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	402790	101560202	33974545	2487	4552											
DNMBP	23268	broad.mit.edu	37	chr10	101639731	101639731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttccggtagctcctcggcGtggcagtgggttgctttaca	14	10	0	0	rs147752816	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:101639731G>A	uc001kqj.2	-	15	4477	c.4385C>T	c.(4384-4386)aCg>aTg	p.T1462M	DNMBP_uc010qpl.1_Missense_Mutation_p.T398M|DNMBP_uc001kqg.2_Missense_Mutation_p.T750M|DNMBP_uc001kqh.2_Missense_Mutation_p.T1094M	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	1462					intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GCTCCTCGGCGTGGCAGTGGG	0.537													A	101639731	G	A	101639731	3	1	4	1	0	0	0	0	1	0	0	0	4674	1145	40	1	356	1	DNMBP	10	101639731	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	79529	101639731	33895016	2488	4553											
PKD2L1	9033	broad.mit.edu	37	chr10	102054822	102054822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggatgtccttggcacagCgggccagcgtggaggagagc	17	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:102054822C>T	uc001kqx.1	-	7	1798	c.1415G>A	c.(1414-1416)cGc>cAc	p.R472H	PKD2L1_uc009xwm.1_Missense_Mutation_p.R425H	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	472					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTTGGCACAGCGGGCCAGCGT	0.512													T	102054822	C	T	102054822	3	4	4	1	0	0	0	0	1	0	0	0	11967	768	27	1	1038	1	PKD2L1	10	102054822	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	415091	102054822	33479925	2489	4554											
TLX1	3195	broad.mit.edu	37	chr10	102896498	102896498	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggcagcaagcgaaccgcaTcctcctgcagttgcagcagg	13	13	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:102896498T>C	uc001ksw.3	+	2	1059	c.821T>C	c.(820-822)aTc>aCc	p.I274T	TLX1_uc021pxd.1_3'UTR	NM_005521	NP_005512	P31314	TLX1_HUMAN	Homo sapiens T-cell leukemia homeobox 1 (TLX1), transcript variant 1, mRNA.	274						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GCGAACCGCATCCTCCTGCAG	0.667			T	"TRB@, TRD@"	T-ALL								C	102896498	T	C	102896498	3	2	4	1	0	0	0	0	1	0	0	0	15956	1435	50	3	831	3	TLX1	10	102896498	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	841676	102896498	32638249	2490	4555											
BTRC	8945	broad.mit.edu	37	chr10	103294488	103294488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagcagttctgcacttgCgtttcaataatggcatgatg	11	7	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:103294488C>T	uc001kta.3	+	9	1281	c.1168C>T	c.(1168-1170)Cgt>Tgt	p.R390C	BTRC_uc001ktb.3_Missense_Mutation_p.R354C|BTRC_uc001ktc.3_Missense_Mutation_p.R364C	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	390					Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleus				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TCTGCACTTGCGTTTCAATAA	0.458													T	103294488	C	T	103294488	3	4	4	1	0	0	0	0	1	0	0	0	1569	768	27	1	1206	1	BTRC	10	103294488	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	397990	103294488	32240259	2491	4556											
PPRC1	23082	broad.mit.edu	37	chr10	103899333	103899333	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaggcagccacagctggCgatgacctggagatcccagt	15	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:103899333C>T	uc001kum.3	+	4	1107	c.1068C>T	c.(1066-1068)ggC>ggT	p.G356G	PPRC1_uc001kun.3_Silent_p.G236G|PPRC1_uc010qqj.2_Silent_p.G356G|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCACAGCTGGCGATGACCTGG	0.592													T	103899333	C	T	103899333	2	4	4	1	0	0	0	0	0	0	0	1	12410	755	27	1		1	PPRC1	10	103899333	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	604845	103899333	31635414	2492	4557											
GBF1	8729	broad.mit.edu	37	chr10	104119942	104119942	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctggccttccccaggCacagctttggtcccctatgg	9	17	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:104119942C>T	uc001kux.2	+	12	1472	c.1178_splice	c.e12-1	p.G393_splice	GBF1_uc001kuw.3_3'UTR|GBF1_uc001kuy.2_Splice_Site_p.G393_splice|GBF1_uc001kuz.2_Splice_Site_p.G394_splice	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	393					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTTCCCCAGGCACAGCTTTGG	0.522													T	104119942	C	T	104119942	5	4	4	1	0	0	0	0	0	0	1	0	6271	724	25	2	1221	2	GBF1	10	104119942	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	220609	104119942	31414805	2493	4558											
TAF5	6877	broad.mit.edu	37	chr10	105147784	105147784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcaatggataatacagttcGattatgggatgctatcaaag	9	5	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:105147784G>A	uc001kwv.3	+	10	2230	c.2207G>A	c.(2206-2208)cGa>cAa	p.R736Q	TAF5_uc010qqq.2_Missense_Mutation_p.R681Q	NM_006951	NP_008882	Q15542	TAF5_HUMAN	Homo sapiens TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa (TAF5), mRNA.	736					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		AATACAGTTCGATTATGGGAT	0.373													A	105147784	G	A	105147784	3	1	4	1	0	0	0	0	1	0	0	0	15525	1058	37	1	2249	1	TAF5	10	105147784	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1027842	105147784	30386963	2494	4559											
CALHM2	51063	broad.mit.edu	37	chr10	105209370	105209370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgacaggggccacagccGcacgtcccaggatggagctt	15	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:105209370G>A	uc001kxa.3	-	2	940	c.329C>T	c.(328-330)gCg>gTg	p.A110V	CALHM2_uc001kxc.3_Missense_Mutation_p.A110V|CALHM2_uc001kxb.3_Missense_Mutation_p.A110V|CALHM2_uc001kxd.1_Missense_Mutation_p.A110V	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	Homo sapiens calcium homeostasis modulator 2 (CALHM2), transcript variant 1, mRNA.	110						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GGCCACAGCCGCACGTCCCAG	0.627													A	105209370	G	A	105209370	3	1	4	1	0	0	0	0	1	0	0	0	2583	1087	38	1	650	1	CALHM2	10	105209370	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	61586	105209370	30325377	2495	4560											
NEURL	9148	broad.mit.edu	37	chr10	105331403	105331403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgggccaaggcgctgcCtgaggagtttgccaatgagg	15	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:105331403C>T	uc001kxh.3	+	2	883	c.473C>T	c.(472-474)cCt>cTt	p.P158L	NEURL_uc021pxn.1_Missense_Mutation_p.P141L	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	158	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		AAGGCGCTGCCTGAGGAGTTT	0.602													T	105331403	C	T	105331403	3	4	4	1	0	0	0	0	1	0	0	0	10345	681	24	4	483	4	NEURL	10	105331403	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	122033	105331403	30203344	2496	4561											
CCDC147	159686	broad.mit.edu	37	chr10	106130764	106130764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatcaaaaggcagaagtcGaacagcacaaagaaacccta	8	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:106130764G>A	uc001kyh.3	+	6	1176	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	348										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GGCAGAAGTCGAACAGCACAA	0.378													A	106130764	G	A	106130764	3	1	4	1	0	0	0	0	1	0	0	0	2781	1059	37	1	1068	1	CCDC147	10	106130764	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	799361	106130764	29403983	2497	4562											
SORCS3	22986	broad.mit.edu	37	chr10	106960891	106960891	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctaagggagagccttgtgTcatgggagaaaggaaaatat	13	5	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:106960891T>C	uc001kyi.1	+	15	2368	c.2141T>C	c.(2140-2142)gTc>gCc	p.V714A	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	714						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GAGCCTTGTGTCATGGGAGAA	0.458													C	106960891	T	C	106960891	3	2	4	1	0	0	0	0	1	0	0	0	14932	1667	58	3	2203	3	SORCS3	10	106960891	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	830127	106960891	28573856	2498	4563											
SORCS3	22986	broad.mit.edu	37	chr10	107012607	107012607	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttcagcagagcttttcatTcttccacccaagaacctgac	5	14	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:107012607T>C	uc001kyi.1	+	22	3407	c.3180T>C	c.(3178-3180)atT>atC	p.I1060I	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1060						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGCTTTTCATTCTTCCACCCA	0.507													C	107012607	T	C	107012607	2	2	4	1	0	0	0	0	0	0	0	1	14932	1771	62	3		3	SORCS3	10	107012607	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	51716	107012607	28522140	2499	4564											
ACSL5	51703	broad.mit.edu	37	chr10	114173039	114173039	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattgtttcccgcggtgcctCgactccttaacaggatctac	8	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:114173039C>T	uc001kzu.3	+	11	1337	c.1225C>T	c.(1225-1227)Cga>Tga	p.R409*	ACSL5_uc001kzs.3_Nonsense_Mutation_p.R353*|ACSL5_uc001kzt.3_Nonsense_Mutation_p.R353*|ACSL5_uc009xxz.3_Nonsense_Mutation_p.R353*|ACSL5_uc010qrj.2_Nonsense_Mutation_p.R135*	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	353					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CGCGGTGCCTCGACTCCTTAA	0.493													T	114173039	C	T	114173039	4	4	4	1	0	0	0	0	0	1	0	0	180	876	31	1	1271	1	ACSL5	10	114173039	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	7160432	114173039	21361708	2500	4565											
HABP2	3026	broad.mit.edu	37	chr10	115334090	115334090	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacagctacgaggattataAtcaggaagagaacaccagta	9	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:115334090A>C	uc001lai.4	+	2	252	c.149A>C	c.(148-150)aAt>aCt	p.N50T	HABP2_uc021pyr.1_Missense_Mutation_p.N24T|HABP2_uc010qrz.1_Non-coding_Transcript|HABP2_uc010qry.1_Missense_Mutation_p.I39L	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	50					cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		GAGGATTATAATCAGGAAGAG	0.473													C	115334090	A	C	115334090	3	2	4	1	0	0	0	0	1	0	0	0	6938	101	4	5	159	5	HABP2	10	115334090	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1161051	115334090	20200657	2501	4566											
VWA2	340706	broad.mit.edu	37	chr10	116045881	116045881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagggagctgctggtggCggtgcctgtgggggagtacc	20	9	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:116045881C>T	uc001lbl.1	+	10	1502	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	VWA2_uc001lbk.1_Missense_Mutation_p.A394V|VWA2_uc009xyf.1_Missense_Mutation_p.A90V	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	394	VWFA 2.					extracellular region		p.A394V(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CTGCTGGTGGCGGTGCCTGTG	0.667													T	116045881	C	T	116045881	3	4	4	1	0	0	0	0	1	0	0	0	17236	768	27	1	1219	1	VWA2	10	116045881	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	711791	116045881	19488866	2502	4567											
ATRNL1	26033	broad.mit.edu	37	chr10	117075167	117075167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatgaagcttattggaatGcaccacagtgagatggttct	10	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:117075167G>A	uc001lcg.3	+	17	3344	c.2958G>A	c.(2956-2958)atG>atA	p.M986I	ATRNL1_uc010qsm.2_Missense_Mutation_p.M161I|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	986	PSI 5.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTATTGGAATGCACCACAGTG	0.433													A	117075167	G	A	117075167	3	1	4	1	0	0	0	0	1	0	0	0	1207	1319	46	2	3028	2	ATRNL1	10	117075167	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1029286	117075167	18459580	2503	4568											
PNLIPRP3	119548	broad.mit.edu	37	chr10	118215275	118215275	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaaagtgcacttgattggCcacagcttgggagcacacct	10	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:118215275C>T	uc001lcl.4	+	4	599	c.498C>T	c.(496-498)ggC>ggT	p.G166G		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA.	166					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		ACTTGATTGGCCACAGCTTGG	0.433													T	118215275	C	T	118215275	2	4	4	1	0	0	0	0	0	0	0	1	12152	726	26	2		2	PNLIPRP3	10	118215275	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1140108	118215275	17319472	2504	4569											
PNLIPRP3	119548	broad.mit.edu	37	chr10	118228829	118228829	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccctttccccatttgccCgtaagtatcatagctaagtt	7	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:118228829C>T	uc001lcl.4	+	9	1161	c.1060_splice	c.e9+1	p.R354_splice		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA.	354					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CCCATTTGCCCGTAAGTATCA	0.328													T	118228829	C	T	118228829	5	4	4	1	0	0	0	0	0	0	1	0	12152	666	23	1	1094	1	PNLIPRP3	10	118228829	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	13554	118228829	17305918	2505	4570											
PDZD8	118987	broad.mit.edu	37	chr10	119043322	119043322	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactgccttcgttgtctgaCgtgttgggtgtgtgttttgg	14	7	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:119043322C>T	uc001lde.1	-	4	3121	c.2922G>A	c.(2920-2922)acG>acA	p.T974T		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	974					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CGTTGTCTGACGTGTTGGGTG	0.463													T	119043322	C	T	119043322	2	4	4	1	0	0	0	0	0	0	0	1	11705	523	19	1		1	PDZD8	10	119043322	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	814493	119043322	16491425	2506	4571											
EIF3A	8661	broad.mit.edu	37	chr10	120832428	120832428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaatatcatggtacaggCgctctactctagaattgttt	10	8	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:120832428C>T	uc001ldu.3	-	3	661	c.515G>A	c.(514-516)cGc>cAc	p.R172H	EIF3A_uc010qsu.2_Missense_Mutation_p.R138H	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	172					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATGGTACAGGCGCTCTACTCT	0.393													T	120832428	C	T	120832428	3	4	4	1	0	0	0	0	1	0	0	0	5012	768	27	1	3709	1	EIF3A	10	120832428	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1789106	120832428	14702319	2507	4572											
RGS10	6001	broad.mit.edu	37	chr10	121275054	121275054	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggaacatcagagggtgCggttcttccaggatcttctc	11	10	5	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:121275054C>T	uc001lee.3	-	2	342	c.342G>A	c.(340-342)ccG>ccA	p.P114P	RGS10_uc001lef.3_Silent_p.P108P|RGS10_uc001leg.3_Silent_p.P122P	NM_002925	NP_002916	O43665	RGS10_HUMAN	Homo sapiens regulator of G-protein signaling 10 (RGS10), transcript variant 2, mRNA.	114	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		TCAGAGGGTGCGGTTCTTCCA	0.512													T	121275054	C	T	121275054	2	4	4	1	0	0	0	0	0	0	0	1	13293	755	27	1		1	RGS10	10	121275054	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	442626	121275054	14259693	2508	4573											
RGS10	6001	broad.mit.edu	37	chr10	121286870	121286870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagattctccagggatgccGcccatttggctgtgctcttg	12	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:121286870G>A	uc001lee.3	-	0	92	c.92C>T	c.(91-93)gCg>gTg	p.A31V	RGS10_uc001lef.3_Missense_Mutation_p.A25V|RGS10_uc001leg.3_Missense_Mutation_p.A39V	NM_002925	NP_002916	O43665	RGS10_HUMAN	Homo sapiens regulator of G-protein signaling 10 (RGS10), transcript variant 2, mRNA.	31					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		CAGGGATGCCGCCCATTTGGC	0.512													A	121286870	G	A	121286870	3	1	4	1	0	0	0	0	1	0	0	0	13293	1087	38	1	445	1	RGS10	10	121286870	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	11816	121286870	14247877	2509	4574											
INPP5F	22876	broad.mit.edu	37	chr10	121551118	121551118	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctactgaagacctttacGcatattaaatccaatgtgtc	5	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:121551118G>A	uc001leo.3	+	3	621	c.405G>A	c.(403-405)acG>acA	p.T135T	INPP5F_uc001len.4_Silent_p.T135T	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	135							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGACCTTTACGCATATTAAAT	0.318													A	121551118	G	A	121551118	2	1	4	1	0	0	0	0	0	0	0	1	7758	1074	38	1		1	INPP5F	10	121551118	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	264248	121551118	13983629	2510	4575											
TACC2	10579	broad.mit.edu	37	chr10	123846012	123846012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccatgcctggaccggatgCcacttctggccaagggcaag	13	13	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:123846012C>T	uc001lfv.3	+	3	4357	c.3997C>T	c.(3997-3999)Cca>Tca	p.P1333S	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.P1333S|TACC2_uc010qtv.2_Missense_Mutation_p.P1333S	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1333						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGACCGGATGCCACTTCTGGC	0.612													T	123846012	C	T	123846012	3	4	4	1	0	0	0	0	1	0	0	0	15499	739	26	2	4007	2	TACC2	10	123846012	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2294894	123846012	11688735	2511	4576											
HTRA1	5654	broad.mit.edu	37	chr10	124268280	124268280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagtcccatgaccgacagGccaaaggtaggcaaggccca	13	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:124268280G>A	uc001lgj.2	+	5	1242	c.1114G>A	c.(1114-1116)Gcc>Acc	p.A372T		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	372	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TGACCGACAGGCCAAAGGTAG	0.537													A	124268280	G	A	124268280	3	1	4	1	0	0	0	0	1	0	0	0	7453	1203	42	2	1136	2	HTRA1	10	124268280	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	422268	124268280	11266467	2512	4577											
C10orf120	399814	broad.mit.edu	37	chr10	124457495	124457495	+	Frame_Shift_Del	DEL	T	T	-													tttccatggtatgttaaacaTttttttggttcttttgactt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:124457494_124457494AT>A	uc001lgn.3	-	2	795	c.763_763AT>T	c.(763-765)tgtfs	p.C255fs		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	255										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TATGTTAAACATTTTTTTGGT	0.388													-	124457495	T	-	124457495	7	5	4	1	0	1	0	1	0	0	0	0	1590	1490	52	0	249	0	C10orf120	10	124457495	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	189215	124457495	11077252	2513	4578											
ACADSB	36	broad.mit.edu	37	chr10	124800157	124800157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaacagaagaacaaaaggCcacctatttgcctcagctca	8	11	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:124800157C>T	uc001lhb.3	+	3	596	c.479C>T	c.(478-480)gCc>gTc	p.A160V	ACADSB_uc010qub.2_Missense_Mutation_p.A58V	NM_001609	NP_001600	P45954	ACDSB_HUMAN	Homo sapiens acyl-CoA dehydrogenase, short/branched chain (ACADSB), nuclear gene encoding mitochondrial protein, mRNA.	160					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	GAACAAAAGGCCACCTATTTG	0.348													T	124800157	C	T	124800157	3	4	4	1	0	0	0	0	1	0	0	0	115	739	26	2	493	2	ACADSB	10	124800157	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	342662	124800157	10734590	2514	4579											
CPXM2	119587	broad.mit.edu	37	chr10	125528124	125528124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccaccaggtggacgatgCgcgcattccgggccaagtac	12	15	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:125528124C>T	uc001lhk.1	-	8	1542	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	406					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.R406C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GTGGACGATGCGCGCATTCCG	0.647													T	125528124	C	T	125528124	3	4	4	1	0	0	0	0	1	0	0	0	3838	768	27	1	1077	1	CPXM2	10	125528124	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	727967	125528124	10006623	2515	4580											
CHST15	51363	broad.mit.edu	37	chr10	125780848	125780848	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatgcaattttcaaacagcTgcagtgcttctgtcactttc	7	11	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:125780848T>C	uc001lhn.3	-	5	2005	c.1271A>G	c.(1270-1272)cAg>cGg	p.Q424R	CHST15_uc001lhm.3_Missense_Mutation_p.Q424R|CHST15_uc010que.2_Missense_Mutation_p.Q424R|CHST15_uc001lho.3_Missense_Mutation_p.Q424R	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	424					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTCAAACAGCTGCAGTGCTTC	0.478													C	125780848	T	C	125780848	3	2	4	1	0	0	0	0	1	0	0	0	3403	1580	55	3	426	3	CHST15	10	125780848	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	252724	125780848	9753899	2516	4581											
ZRANB1	54764	broad.mit.edu	37	chr10	126631374	126631374	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccaagagcaatcagatgTacccagtgcttatcccaacg	9	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:126631374T>C	uc010qug.2	+	1	494	c.390T>C	c.(388-390)tgT>tgC	p.C130C	ZRANB1_uc001lic.3_Silent_p.C104C	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 1 (ZRANB1), mRNA.	104					Wnt receptor signaling pathway|positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		CAATCAGATGTACCCAGTGCT	0.458													C	126631374	T	C	126631374	2	2	4	1	0	0	0	0	0	0	0	1	18219	1644	57	3		3	ZRANB1	10	126631374	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	850526	126631374	8903373	2517	4582											
ZRANB1	54764	broad.mit.edu	37	chr10	126671767	126671767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcaagcttggagcagacGcacatttttgtactggcaca	12	9	0	1	rs75293113	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:126671767G>A	uc010qug.2	+	7	1754	c.1650G>A	c.(1648-1650)acG>acA	p.T550T	ZRANB1_uc001lic.3_Silent_p.T524T	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 1 (ZRANB1), mRNA.	524	OTU.|TRAF-binding.				Wnt receptor signaling pathway|positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	p.T524T(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TGGAGCAGACGCACATTTTTG	0.363													A	126671767	G	A	126671767	2	1	4	1	0	0	0	0	0	0	0	1	18219	1074	38	1		1	ZRANB1	10	126671767	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	40393	126671767	8862980	2518	4583											
CTBP2	1488	broad.mit.edu	37	chr10	126691653	126691653	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtgtggtacatcatggcGcccacggcttcgtttagaac	12	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:126691653G>A	uc009yak.3	-	4	521	c.234C>T	c.(232-234)ggC>ggT	p.G78G	CTBP2_uc009yal.3_Silent_p.G78G|CTBP2_uc001lif.4_Silent_p.G78G|CTBP2_uc001lih.4_Silent_p.G78G|CTBP2_uc001lid.4_Silent_p.G146G|CTBP2_uc001lie.4_Silent_p.G618G	NM_001329	NP_001320	P56545	CTBP2_HUMAN	Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.	78					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		ACATCATGGCGCCCACGGCTT	0.632													A	126691653	G	A	126691653	2	1	4	1	0	0	0	0	0	0	0	1	3998	1074	38	1		1	CTBP2	10	126691653	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	19886	126691653	8843094	2519	4584											
C10orf137	26098	broad.mit.edu	37	chr10	127414270	127414270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatcaatggtgatggagccGctcagcctgtctcatccacc	10	13	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:127414270G>A	uc001liq.1	+	5	948	c.655G>A	c.(655-657)Gct>Act	p.A219T	C10orf137_uc001lin.3_Missense_Mutation_p.A219T|C10orf137_uc001lip.1_5'UTR|C10orf137_uc001lio.1_Missense_Mutation_p.A219T	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGATGGAGCCGCTCAGCCTGT	0.458													A	127414270	G	A	127414270	3	1	4	1	0	0	0	0	1	0	0	0	1594	1087	38	1	677	1	C10orf137	10	127414270	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	722617	127414270	8120477	2520	4585											
C10orf137	26098	broad.mit.edu	37	chr10	127424342	127424342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagaggaggaagagatgCccgacagtgatgaaaatgga	16	4	0	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:127424342C>T	uc001liq.1	+	12	1920	c.1627C>T	c.(1627-1629)Ccc>Tcc	p.P543S	C10orf137_uc001lin.3_Missense_Mutation_p.P509S|C10orf137_uc001lip.1_Missense_Mutation_p.P247S|C10orf137_uc001lio.1_Missense_Mutation_p.P509S|C10orf137_uc001lir.3_Missense_Mutation_p.P37S	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGAAGAGATGCCCGACAGTGA	0.378													T	127424342	C	T	127424342	3	4	4	1	0	0	0	0	1	0	0	0	1594	739	26	2	1571	2	C10orf137	10	127424342	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	10072	127424342	8110405	2521	4586											
DHX32	55760	broad.mit.edu	37	chr10	127540971	127540971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttctgctggcttcagtggCgtcatgtctttggaggcaaa	12	8	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:127540971C>T	uc001ljf.1	-	5	1733	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	BCCIP_uc001ljd.4_Intron|DHX32_uc001lje.1_Silent_p.T38T|DHX32_uc001ljg.1_Silent_p.T414T|DHX32_uc009yam.1_Silent_p.T169T	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA.	414						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GCTTCAGTGGCGTCATGTCTT	0.438													T	127540971	C	T	127540971	2	4	4	1	0	0	0	0	0	0	0	1	4505	755	27	1		1	DHX32	10	127540971	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	116629	127540971	7993776	2522	4587											
FANK1	92565	broad.mit.edu	37	chr10	127697110	127697110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggacagaaatggaaagacGccccttatggtaggtcctcc	11	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:127697110G>A	uc009yan.3	+	8	1022	c.918G>A	c.(916-918)acG>acA	p.T306T	FANK1_uc001ljh.4_Silent_p.T280T|FANK1_uc001lji.3_Silent_p.T274T	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA.	280						cytoplasm|nucleus		p.T280T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				ATGGAAAGACGCCCCTTATGG	0.468													A	127697110	G	A	127697110	2	1	4	1	0	0	0	0	0	0	0	1	5672	1074	38	1		1	FANK1	10	127697110	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	156139	127697110	7837637	2523	4588											
FAM196A	642938	broad.mit.edu	37	chr10	128973888	128973888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggcactgagggcaggtgCgtaaacggtggcaacctccg	15	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:128973888C>T	uc001lju.1	-	0	813	c.772G>A	c.(772-774)Gca>Aca	p.A258T	DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.A258T|FAM196A_uc001ljv.1_Missense_Mutation_p.A258T|FAM196A_uc009yap.1_Missense_Mutation_p.A258T	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.	258										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGGGCAGGTGCGTAAACGGTG	0.667													T	128973888	C	T	128973888	3	4	4	1	0	0	0	0	1	0	0	0	5528	768	27	1	679	1	FAM196A	10	128973888	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1276778	128973888	6560859	2524	4589											
MKI67	4288	broad.mit.edu	37	chr10	129905990	129905990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggagaagattcgcaggGcattttagtagttttgccag	14	5	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:129905990G>A	uc001lke.3	-	12	4309	c.4114C>T	c.(4114-4116)Ccc>Tcc	p.P1372S	MKI67_uc001lkf.3_Missense_Mutation_p.P1012S|MKI67_uc009yav.1_Missense_Mutation_p.P947S|MKI67_uc009yaw.1_Missense_Mutation_p.P522S	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1372	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GATTCGCAGGGCATTTTAGTA	0.522													A	129905990	G	A	129905990	3	1	4	1	0	0	0	0	1	0	0	0	9598	1203	42	2	5668	2	MKI67	10	129905990	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	932102	129905990	5628757	2525	4590											
GLRX3	10539	broad.mit.edu	37	chr10	131973264	131973264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctgttgtttctttaggttCggcaaggattaaaagcttac	9	7	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:131973264C>T	uc001lkn.2	+	9	914	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W	GLRX3_uc001lkm.2_Missense_Mutation_p.R290W|GLRX3_uc001lko.3_Non-coding_Transcript|GLRX3_uc021qay.1_Missense_Mutation_p.R144W	NM_001199868	NP_001186797	O76003	GLRX3_HUMAN	Homo sapiens glutaredoxin 3 (GLRX3), transcript variant 1, mRNA.	290	Glutaredoxin 2.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		TCTTTAGGTTCGGCAAGGATT	0.428													T	131973264	C	T	131973264	3	4	4	1	0	0	0	0	1	0	0	0	6461	875	31	1	906	1	GLRX3	10	131973264	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2067274	131973264	3561483	2526	4591											
TCERG1L	256536	broad.mit.edu	37	chr10	132944908	132944908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaaactcggtcatcgccCgtccagaccacacacctgtt	7	15	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:132944908C>T	uc001lkp.3	-	6	1136	c.1050G>A	c.(1048-1050)acG>acA	p.T350T	TCERG1L_uc009yax.1_Non-coding_Transcript	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA.	350	WW 2.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GGTCATCGCCCGTCCAGACCA	0.502													T	132944908	C	T	132944908	2	4	4	1	0	0	0	0	0	0	0	1	15683	639	23	1		1	TCERG1L	10	132944908	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	971644	132944908	2589839	2527	4592											
BNIP3	664	broad.mit.edu	37	chr10	133784260	133784260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcctcatgctgagggtggCcgtgcgcttcgggtgtttaa	15	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:133784260C>T	uc001lkv.1	-	4	546	c.421G>A	c.(421-423)Gcc>Acc	p.A141T	BNIP3_uc001lku.1_5'Flank|BNIP3_uc010qut.1_Missense_Mutation_p.A141T	NM_004052	NP_004043	Q12983	BNIP3_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 3 (BNIP3), nuclear gene encoding mitochondrial protein, mRNA.	141					DNA fragmentation involved in apoptotic nuclear change|cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity	p.A141D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTGAGGGTGGCCGTGCGCTTC	0.522													T	133784260	C	T	133784260	3	4	4	1	0	0	0	0	1	0	0	0	1478	739	26	2	171	2	BNIP3	10	133784260	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	839352	133784260	1750487	2528	4593											
JAKMIP3	282973	broad.mit.edu	37	chr10	133930823	133930823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagtgccctgcgtgatggCggccccgaaaaggtcaagac	13	13	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:133930823C>T	uc001lkx.4	+	1	378	c.378C>T	c.(376-378)ggC>ggT	p.G126G		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGCGTGATGGCGGCCCCGAAA	0.617													T	133930823	C	T	133930823	2	4	4	1	0	0	0	0	0	0	0	1	7942	755	27	1		1	JAKMIP3	10	133930823	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	146563	133930823	1603924	2529	4594											
JAKMIP3	282973	broad.mit.edu	37	chr10	133954021	133954021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaatccgacggctcctccGtctcttaccaaacagacagg	9	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:133954021G>A	uc001lkx.4	+	8	1411	c.1411G>A	c.(1411-1413)Gtc>Atc	p.V471I		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CGGCTCCTCCGTCTCTTACCA	0.587													A	133954021	G	A	133954021	3	1	4	1	0	0	0	0	1	0	0	0	7942	1145	40	1	1445	1	JAKMIP3	10	133954021	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	23198	133954021	1580726	2530	4595											
LRRC27	80313	broad.mit.edu	37	chr10	134165170	134165170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtcaccgtaccaaatggCgatccgagcaaaaagactgg	10	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:134165170C>T	uc010quw.1	+	6	1181	c.986C>T	c.(985-987)gCg>gTg	p.A329V	LRRC27_uc001llf.2_Nonsense_Mutation_p.R361*|LRRC27_uc010quv.1_Missense_Mutation_p.A329V|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Missense_Mutation_p.A329V|LRRC27_uc001llj.2_Missense_Mutation_p.A267V|LRRC27_uc001llk.4_Missense_Mutation_p.A202V	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	329										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TACCAAATGGCGATCCGAGCA	0.522													T	134165170	C	T	134165170	3	4	4	1	0	0	0	0	1	0	0	0	8981	769	27	1	1107	1	LRRC27	10	134165170	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	211149	134165170	1369577	2531	4596											
INPP5A	3632	broad.mit.edu	37	chr10	134463965	134463965	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaaagaatataacagggctCgagtctacctggatgaaaac	10	7	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:134463965C>T	uc001llp.3	+	3	510	c.262C>T	c.(262-264)Cga>Tga	p.R88*	INPP5A_uc001llo.1_Nonsense_Mutation_p.R88*|INPP5A_uc001llq.3_Nonsense_Mutation_p.R40*	NM_005539	NP_005530	Q14642	I5P1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA.	88					cell communication	membrane	PH domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TAACAGGGCTCGAGTCTACCT	0.527													T	134463965	C	T	134463965	4	4	4	1	0	0	0	0	0	1	0	0	7754	876	31	1	276	1	INPP5A	10	134463965	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	298795	134463965	1070782	2532	4597											
KNDC1	85442	broad.mit.edu	37	chr10	135010567	135010567	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcctccctccaggtgtgCggcagctacctcctccagcg	10	18	1	0	rs142706564	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:135010567C>T	uc001llz.1	+	10	1741	c.1740C>T	c.(1738-1740)tgC>tgT	p.C580C	KNDC1_uc001lma.1_Silent_p.C515C|KNDC1_uc001lmb.1_5'UTR	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	580	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCCAGGTGTGCGGCAGCTACC	0.642													T	135010567	C	T	135010567	2	4	4	1	0	0	0	0	0	0	0	1	8426	776	27	1		1	KNDC1	10	135010567	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	546602	135010567	524180	2533	4598											
KNDC1	85442	broad.mit.edu	37	chr10	135038246	135038246	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaccccaagctccagtcgtAcctcaagcagaggattgccc	9	16	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:135038246A>G	uc001llz.1	+	29	5103	c.5102A>G	c.(5101-5103)tAc>tGc	p.Y1701C		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1701	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTCCAGTCGTACCTCAAGCAG	0.587													G	135038246	A	G	135038246	3	3	4	1	0	0	0	0	1	0	0	0	8426	391	14	3	5220	3	KNDC1	10	135038246	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	27679	135038246	496501	2534	4599											
MTG1	92170	broad.mit.edu	37	chr10	135211971	135211971	+	Frame_Shift_Del	DEL	A	A	-													cacttagaaggagaaggcctAaaaaatgtcatttttaccaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:135211970_135211970TA>T	uc001lnd.3	+	3	418	c.314_314TA>T	c.(313-315)ctafs	p.L105fs	MTG1_uc010qve.2_Frame_Shift_Del_p.L21fs	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN	Homo sapiens mitochondrial GTPase 1 homolog (S. cerevisiae) (MTG1), nuclear gene encoding mitochondrial protein, mRNA.	105						mitochondrion	GTP binding|protein binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		GGAGAAGGCCTAAAAAATGTC	0.408													-	135211971	A	-	135211971	7	5	4	1	0	1	0	1	0	0	0	0	9926	349	13	0	329	0	MTG1	10	135211971	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	173725	135211971	322776	2535	4600											
FRG2B	441581	broad.mit.edu	37	chr10	135439043	135439043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctggatttcactgttgtGcacaggagtggaggatcttg	13	8	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:135439043G>A	uc010qvg.2	-	3	450	c.397C>T	c.(397-399)Cac>Tac	p.H133Y		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	133						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCACTGTTGTGCACAGGAGTG	0.527													A	135439043	G	A	135439043	3	1	4	1	0	0	0	0	1	0	0	0	6047	1319	46	2	442	2	FRG2B	10	135439043	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	227072	135439043	95704	2536	4601											
EPS8L2	64787	broad.mit.edu	37	chr11	722405	722405	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcactgtgccccagatcgTcaacacctgcagtggcccag	9	17	2	1	rs142316225		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:722405T>C	uc001lqt.3	+	12	1311	c.1064T>C	c.(1063-1065)gTc>gCc	p.V355A	EPS8L2_uc001lqu.3_Missense_Mutation_p.V355A|EPS8L2_uc010qwk.2_Missense_Mutation_p.V371A|EPS8L2_uc001lqv.3_Missense_Mutation_p.V310A|EPS8L2_uc001lqw.3_5'UTR|EPS8L2_uc001lqx.3_5'UTR|EPS8L2_uc001lqy.3_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	Homo sapiens EPS8-like 2 (EPS8L2), mRNA.	355						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCAGATCGTCAACACCTGC	0.662													C	722405	T	C	722405	3	2	4	1	0	0	0	0	1	0	0	0	5196	1667	58	3	1110	3	EPS8L2	11	722405	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08		722405	134284111	2537	4602											
TSPAN4	7106	broad.mit.edu	37	chr11	865745	865745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggttcgaggtgtacaacGccacgcgggtacctgactcc	12	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:865745G>A	uc001lsd.1	+	6	693	c.484G>A	c.(484-486)Gcc>Acc	p.A162T	TSPAN4_uc001lse.1_Missense_Mutation_p.A98T|TSPAN4_uc001lsf.1_Missense_Mutation_p.A162T|TSPAN4_uc001lsg.1_Missense_Mutation_p.A162T|TSPAN4_uc001lsh.1_Missense_Mutation_p.A162T|TSPAN4_uc001lsi.1_Missense_Mutation_p.A162T|TSPAN4_uc001lsj.1_Missense_Mutation_p.A162T	NM_003271	NP_001020410	O14817	TSN4_HUMAN	Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA.	162					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGTACAACGCCACGCGGGT	0.662													A	865745	G	A	865745	3	1	4	1	0	0	0	0	1	0	0	0	16646	1087	38	1	502	1	TSPAN4	11	865745	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	143340	865745	134140771	2538	4603											
MUC6	4588	broad.mit.edu	37	chr11	1016812	1016812	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgagggtgtgatggggTtggataggtagtggtggtct	21	2	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:1016812T>C	uc001lsw.2	-	30	6040	c.5989A>G	c.(5989-5991)Acc>Gcc	p.T1997A		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1997	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGATGGGGTTGGATAGGTA	0.542													C	1016812	T	C	1016812	3	2	4	1	0	0	0	0	1	0	0	0	9980	1725	60	3	1342	3	MUC6	11	1016812	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	151067	1016812	133989704	2539	4604											
MUC5B	727897	broad.mit.edu	37	chr11	1262591	1262591	+	Frame_Shift_Del	DEL	C	C	-													ctcaggccccgtgacggtcaCcccctcggccccaggtacca							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:1262591delC	uc009ycr.1	+	47	6686	c.6560delC	c.(6559-6561)ACCfs	p.T2187fs	MUC5B_uc001ltb.2_Frame_Shift_Del_p.T1497fs	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1494	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGACGGTCACCCCCTCGGCC	0.637													-	1262591	C	-	1262591	7	5	4	1	0	1	0	1	0	0	0	0	9979	507	18	0	4612	0	MUC5B	11	1262591	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	245779	1262591	133743925	2540	4605											
MUC5B	727897	broad.mit.edu	37	chr11	1281031	1281031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgctgtggggagtgcGtccagaccgcctgcctcacg	16	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:1281031G>A	uc001lta.3	+	44	16818	c.16759G>A	c.(16759-16761)Gtc>Atc	p.V5587I		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5587	VWFC 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGGGGAGTGCGTCCAGACCGC	0.667													A	1281031	G	A	1281031	3	1	4	1	0	0	0	0	1	0	0	0	9979	1145	40	1	16946	1	MUC5B	11	1281031	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	18440	1281031	133725485	2541	4606											
KRTAP5-6	440023	broad.mit.edu	37	chr11	1718528	1718528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccggctgtgggggctgtgGctctggctgtgggggctgtg	21	9	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:1718528G>A	uc001lua.3	+	0	104	c.53G>A	c.(52-54)gGc>gAc	p.G18D	MOB2_uc001ltq.2_Intron	NM_001012416	NP_001012416	Q6L8G9	KRA56_HUMAN	Homo sapiens keratin associated protein 5-6 (KRTAP5-6), mRNA.	18						keratin filament				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGGGCTGTGGCTCTGGCTGT	0.657													A	1718528	G	A	1718528	3	1	4	1	0	0	0	0	1	0	0	0	8565	1203	42	2	55	2	KRTAP5-6	11	1718528	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	437497	1718528	133287988	2542	4607											
ART5	116969	broad.mit.edu	37	chr11	3660999	3660999	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggggaatcagcacctcGcgctccttgggaaagacaga	15	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:3660999G>A	uc001lyb.1	-	1	1053	c.660C>T	c.(658-660)cgC>cgT	p.R220R	ART5_uc001lyc.1_Silent_p.R220R|ART5_uc001lyd.3_Intron|ART5_uc009yea.3_Intron	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.	220						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAGCACCTCGCGCTCCTTGG	0.512													A	3660999	G	A	3660999	2	1	4	1	0	0	0	0	0	0	0	1	1000	1074	38	1		1	ART5	11	3660999	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1942471	3660999	131345517	2543	4608											
PGAP2	27315	broad.mit.edu	37	chr11	3845179	3845179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccccagcgctacgtgtggCgtttctgcatcggcctgcac	12	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:3845179C>T	uc010qxw.2	+	4	611	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	PGAP2_uc001lyl.3_Missense_Mutation_p.R96C|PGAP2_uc010qxy.2_Missense_Mutation_p.R135C|PGAP2_uc001lyn.4_Missense_Mutation_p.A31V|PGAP2_uc010qya.2_Non-coding_Transcript|PGAP2_uc010qyb.2_Missense_Mutation_p.A81V|PGAP2_uc001lys.3_Missense_Mutation_p.R139C|PGAP2_uc001lyt.3_5'UTR|PGAP2_uc021qcm.1_Missense_Mutation_p.R78C	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	Homo sapiens post-GPI attachment to proteins 2 (PGAP2), transcript variant 1, mRNA.	139					GPI anchor biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CTACGTGTGGCGTTTCTGCAT	0.637													T	3845179	C	T	3845179	3	4	4	1	0	0	0	0	1	0	0	0	11778	768	27	1	604	1	PGAP2	11	3845179	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	184180	3845179	131161337	2544	4609											
OR52B4	143496	broad.mit.edu	37	chr11	4389392	4389392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggataatgaagatgagcaggCtgttcccaagaagggcggtg	16	6	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:4389392C>T	uc010qye.2	-	0	225	c.134G>A	c.(133-135)aGc>aAc	p.S45N		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATGAGCAGGCTGTTCCCAAG	0.527													T	4389392	C	T	4389392	3	4	4	1	0	0	0	0	1	0	0	0	11112	797	28	2	814	2	OR52B4	11	4389392	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	544213	4389392	130617124	2545	4610											
OR52I2	143502	broad.mit.edu	37	chr11	4608901	4608901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtactatctacctgggatgGcatccatctatgcggcctgg	11	11	2	0	rs150458035	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:4608901G>A	uc010qyh.2	+	0	881	c.859G>A	c.(859-861)Gca>Aca	p.A287T		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCTGGGATGGCATCCATCTA	0.522													A	4608901	G	A	4608901	3	1	4	1	0	0	0	0	1	0	0	0	11121	1203	42	2	861	2	OR52I2	11	4608901	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	219509	4608901	130397615	2546	4611											
OR51D1	390038	broad.mit.edu	37	chr11	4661818	4661818	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgttctggtcttctatgtAcccctcattgggctctcggt	10	12	5	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:4661818A>G	uc010qyk.2	+	0	874	c.798A>G	c.(796-798)gtA>gtG	p.V266V		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTCTATGTACCCCTCATTG	0.552													G	4661818	A	G	4661818	2	3	4	1	0	0	0	0	0	0	0	1	11093	378	14	3		3	OR51D1	11	4661818	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	52917	4661818	130344698	2547	4612											
OR51E1	143503	broad.mit.edu	37	chr11	4674699	4674699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttccatgtggccacacacGcttcagagccctaggtgtca	9	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:4674699G>A	uc021qcq.1	+	0	943	c.943G>A	c.(943-945)Gct>Act	p.A315T	OR51E1_uc001lzi.4_Missense_Mutation_p.A315T	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCACACACGCTTCAGAGCC	0.433													A	4674699	G	A	4674699	3	1	4	1	0	0	0	0	1	0	0	0	11094	1087	38	1	945	1	OR51E1	11	4674699	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	12881	4674699	130331817	2548	4613											
OR51A4	401666	broad.mit.edu	37	chr11	4967774	4967774	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaacaggccaacttcatgAcatcctggtggagacagtag	11	10	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:4967774A>G	uc010qys.2	-	0	557	c.557T>C	c.(556-558)gTc>gCc	p.V186A		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAACTTCATGACATCCTGGTG	0.408													G	4967774	A	G	4967774	3	3	4	1	0	0	0	0	1	0	0	0	11087	275	10	3	386	3	OR51A4	11	4967774	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	293075	4967774	130038742	2549	4614											
OR51B6	390058	broad.mit.edu	37	chr11	5373588	5373588	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacttccttttcccaccttTtatgaacccatttatctata	1	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:5373588T>C	uc010qzb.2	+	0	851	c.851T>C	c.(850-852)tTt>tCt	p.F284S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F284C(2)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCCACCTTTTATGAACCCA	0.388													C	5373588	T	C	5373588	3	2	4	1	0	0	0	0	1	0	0	0	11092	1841	64	3	853	3	OR51B6	11	5373588	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	405814	5373588	129632928	2550	4615											
OR51Q1	390061	broad.mit.edu	37	chr11	5444163	5444163	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgccctcaataactgcctgTcccacattctagctgtcctg	7	15	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:5444163T>A	uc010qzd.2	+	0	823	c.733T>A	c.(733-735)Tcc>Acc	p.S245T	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAACTGCCTGTCCCACATTCT	0.493													A	5444163	T	A	5444163	3	1	4	1	0	0	0	0	1	0	0	0	11104	1667	58	5	735	5	OR51Q1	11	5444163	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	70575	5444163	129562353	2551	4616											
OR52H1	390067	broad.mit.edu	37	chr11	5566215	5566215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtatgtgtggggtatgatgCgtgtcctgcagaaaggcagg	17	5	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:5566215C>T	uc010qzh.2	-	0	539	c.539G>A	c.(538-540)cGc>cAc	p.R180H	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGTATGATGCGTGTCCTGCA	0.488													T	5566215	C	T	5566215	3	4	4	1	0	0	0	0	1	0	0	0	11119	768	27	1	426	1	OR52H1	11	5566215	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	122052	5566215	129440301	2552	4617											
TRIM22	10346	broad.mit.edu	37	chr11	5730360	5730360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagacaagtgaaaactgtaCgcacctgcacatttaagaat	8	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:5730360C>T	uc001mbr.3	+	7	1358	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|TRIM22_uc010qzm.2_Missense_Mutation_p.R155C|TRIM22_uc009yes.3_Missense_Mutation_p.R323C|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	327	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GAAAACTGTACGCACCTGCAC	0.413													T	5730360	C	T	5730360	3	4	4	1	0	0	0	0	1	0	0	0	16493	536	19	1	1005	1	TRIM22	11	5730360	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	164145	5730360	129276156	2553	4618											
OR56A3	390083	broad.mit.edu	37	chr11	5969245	5969245	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttatcttcctctcctacacCttcattctgcgagctgtgct	5	15	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:5969245C>T	uc010qzt.2	+	0	669	c.669C>T	c.(667-669)acC>acT	p.T223T		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y222H(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCCTACACCTTCATTCTGC	0.522													T	5969245	C	T	5969245	2	4	4	1	0	0	0	0	0	0	0	1	11134	668	24	4		4	OR56A3	11	5969245	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	238885	5969245	129037271	2554	4619											
OR52W1	120787	broad.mit.edu	37	chr11	6220850	6220850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtgctgcggcaatagggCgtccactgcactaccctgtc	11	14	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6220850C>T	uc010qzz.2	+	0	397	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C		NM_001005178	NP_001005178	Q6IF63	O52W1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily W, member 1 (OR52W1), mRNA.	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R133C(4)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAATAGGGCGTCCACTGCA	0.547													T	6220850	C	T	6220850	3	4	4	1	0	0	0	0	1	0	0	0	11132	768	27	1	399	1	OR52W1	11	6220850	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	251605	6220850	128785666	2555	4620											
CNGA4	1262	broad.mit.edu	37	chr11	6261008	6261008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctactagacatggtggtgCgcttccacacaggtcagtgg	12	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6261008C>T	uc001mco.3	+	2	374	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	CNGA4_uc010raa.2_Missense_Mutation_p.R47C|CNGA4_uc001mcn.3_Missense_Mutation_p.R47C	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	87					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGTGGTGCGCTTCCACAC	0.537													T	6261008	C	T	6261008	3	4	4	1	0	0	0	0	1	0	0	0	3599	768	27	1	269	1	CNGA4	11	6261008	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	40158	6261008	128745508	2556	4621											
CNGA4	1262	broad.mit.edu	37	chr11	6261854	6261854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacatgaacactgcagatgCggctttctacccagatcatg	8	12	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6261854C>T	uc001mco.3	+	3	945	c.830C>T	c.(829-831)gCg>gTg	p.A277V	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.A237V	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	277					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGCAGATGCGGCTTTCTAC	0.542													T	6261854	C	T	6261854	3	4	4	1	0	0	0	0	1	0	0	0	3599	768	27	1	844	1	CNGA4	11	6261854	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	846	6261854	128744662	2557	4622											
CNGA4	1262	broad.mit.edu	37	chr11	6262731	6262731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagcacttgcctgagcggCtgcgggcagaagtggctgtg	16	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6262731C>T	uc001mco.3	+	4	1103	c.988C>T	c.(988-990)Ctg>Ttg	p.L330L	CNGA4_uc010raa.2_Silent_p.L99L|CNGA4_uc001mcn.3_Silent_p.L290L	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	330					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTGAGCGGCTGCGGGCAGA	0.552													T	6262731	C	T	6262731	2	4	4	1	0	0	0	0	0	0	0	1	3599	796	28	2		2	CNGA4	11	6262731	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	877	6262731	128743785	2558	4623											
CCKBR	887	broad.mit.edu	37	chr11	6291549	6291549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcatcgctggcccagtgCgcgggtccgccagacctggt	15	15	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6291549C>T	uc001mcp.3	+	2	890	c.635C>T	c.(634-636)gCg>gTg	p.A212V	CCKBR_uc001mcq.3_Missense_Mutation_p.A140V|CCKBR_uc001mcr.3_Missense_Mutation_p.A212V|CCKBR_uc001mcs.3_Missense_Mutation_p.A212V|CCKBR_uc001mct.1_5'Flank	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	212					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TGGCCCAGTGCGCGGGTCCGC	0.582													T	6291549	C	T	6291549	3	4	4	1	0	0	0	0	1	0	0	0	2881	768	27	1	645	1	CCKBR	11	6291549	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	28818	6291549	128714967	2559	4624											
SMPD1	6609	broad.mit.edu	37	chr11	6413036	6413036	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtgccggatactggggCgaatacagcaagtgtgacct	14	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6413036C>T	uc001mcw.3	+	1	926	c.741C>T	c.(739-741)ggC>ggT	p.G247G	SMPD1_uc021qcz.1_Silent_p.G247G|SMPD1_uc001mcv.2_Intron|SMPD1_uc009yew.3_Silent_p.G246G|SMPD1_uc021qda.1_Non-coding_Transcript|SMPD1_uc009yex.3_Non-coding_Transcript	NM_000543	NP_000534	P17405	ASM_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA.	245					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	GATACTGGGGCGAATACAGCA	0.652													T	6413036	C	T	6413036	2	4	4	1	0	0	0	0	0	0	0	1	14804	755	27	1		1	SMPD1	11	6413036	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	121487	6413036	128593480	2560	4625											
HPX	3263	broad.mit.edu	37	chr11	6452540	6452540	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagcagtacaaattgggAccatggatgaggtacaagcc	12	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6452540A>G	uc001mdg.2	-	9	1351	c.1290T>C	c.(1288-1290)ggT>ggC	p.G430G	HPX_uc009yfc.2_Non-coding_Transcript	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	430					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		ACAAATTGGGACCATGGATGA	0.542													G	6452540	A	G	6452540	2	3	4	1	0	0	0	0	0	0	0	1	7346	262	10	3		3	HPX	11	6452540	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	39504	6452540	128553976	2561	4626											
TRIM3	10612	broad.mit.edu	37	chr11	6472626	6472626	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccaggtgagcgtcctcGgaccccaaaacggaacttga	11	14	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6472626G>A	uc001mdh.3	-	8	1972	c.1576C>T	c.(1576-1578)Cga>Tga	p.R526*	TRIM3_uc001mdi.3_Nonsense_Mutation_p.R526*|TRIM3_uc010raj.2_Nonsense_Mutation_p.R407*|TRIM3_uc009yfd.3_Nonsense_Mutation_p.R526*|TRIM3_uc010rak.1_Nonsense_Mutation_p.R526*	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	526					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	p.R526*(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCGTCCTCGGACCCCAAAA	0.582													A	6472626	G	A	6472626	4	1	4	1	0	0	0	0	0	1	0	0	16501	1124	39	1	678	1	TRIM3	11	6472626	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	20086	6472626	128533890	2562	4627											
DCHS1	8642	broad.mit.edu	37	chr11	6654194	6654194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagctcccggtccagagggCgaagtgtttgcaacagtcct	13	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6654194C>T	uc001mem.1	-	5	2950	c.2549G>A	c.(2548-2550)cGc>cAc	p.R850H		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	850	Cadherin 8.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCCAGAGGGCGAAGTGTTTG	0.612													T	6654194	C	T	6654194	3	4	4	1	0	0	0	0	1	0	0	0	4287	768	27	1	7411	1	DCHS1	11	6654194	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	181568	6654194	128352322	2563	4628											
DCHS1	8642	broad.mit.edu	37	chr11	6661150	6661150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacatcttgcagggccacGctaactgtggcagaggaggc	13	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6661150G>A	uc001mem.1	-	1	2096	c.1695C>T	c.(1693-1695)agC>agT	p.S565S		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	565	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGGGCCACGCTAACTGTGG	0.572													A	6661150	G	A	6661150	2	1	4	1	0	0	0	0	0	0	0	1	4287	1078	38	1		1	DCHS1	11	6661150	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	6956	6661150	128345366	2564	4629											
OR10A5	144124	broad.mit.edu	37	chr11	6867086	6867086	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgaccccatgctacacaGccccatgtacttcttcctca	5	17	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6867086G>T	uc001met.1	+	0	173	c.173G>T	c.(172-174)aGc>aTc	p.S58I		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGCTACACAGCCCCATGTAC	0.473													T	6867086	G	T	6867086	3	4	4	1	0	0	0	0	1	0	0	0	10893	971	34	5	175	5	OR10A5	11	6867086	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	205936	6867086	128139430	2565	4630											
OR2D2	120776	broad.mit.edu	37	chr11	6913396	6913396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatcactgcaagaagggcGcactgggtacacccaaaaat	10	11	1	1	rs140944764		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6913396G>A	uc010rau.2	-	0	336	c.336C>T	c.(334-336)tgC>tgT	p.C112C		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAAGAAGGGCGCACTGGGTAC	0.488													A	6913396	G	A	6913396	2	1	4	1	0	0	0	0	0	0	0	1	10994	1079	38	1		1	OR2D2	11	6913396	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	46310	6913396	128093120	2566	4631											
OR2D3	120775	broad.mit.edu	37	chr11	6942872	6942872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacttacagcacagaaatgGccatcttttcaatgggcgtg	9	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6942872G>A	uc010rav.2	+	0	640	c.640G>A	c.(640-642)Gcc>Acc	p.A214T		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACAGAAATGGCCATCTTTTC	0.468													A	6942872	G	A	6942872	3	1	4	1	0	0	0	0	1	0	0	0	10995	1203	42	2	642	2	OR2D3	11	6942872	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	29476	6942872	128063644	2567	4632											
RBMXL2	27288	broad.mit.edu	37	chr11	7111248	7111248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccaggacgggggacaccGccatcttacggaggaggagg	17	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:7111248G>A	uc001mfc.2	+	0	1084	c.897G>A	c.(895-897)ccG>ccA	p.P299P		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	299	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGGGGACACCGCCATCTTACG	0.662													A	7111248	G	A	7111248	2	1	4	1	0	0	0	0	0	0	0	1	13154	1074	38	1		1	RBMXL2	11	7111248	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	168376	7111248	127895268	2568	4633											
OLFML1	283298	broad.mit.edu	37	chr11	7509587	7509587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagaggacaagacactggCagaaatgttgctccaagaag	11	8	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:7509587C>T	uc001mfi.3	+	1	866	c.359C>T	c.(358-360)gCa>gTa	p.A120V	BC040358_uc001mff.1_Intron|OLFML1_uc010raz.2_Intron|OLFML1_uc010rba.2_Missense_Mutation_p.A120V	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN	Homo sapiens olfactomedin-like 1 (OLFML1), mRNA.	120						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AAGACACTGGCAGAAATGTTG	0.463													T	7509587	C	T	7509587	3	4	4	1	0	0	0	0	1	0	0	0	10856	710	25	2	365	2	OLFML1	11	7509587	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	398339	7509587	127496929	2569	4634											
OR5P3	120066	broad.mit.edu	37	chr11	7846790	7846790	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagtgactgcagtgaggtGggaggtgcaggtggagaagg	21	4	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:7846790G>T	uc010rbg.2	-	0	730	c.730C>A	c.(730-732)Cac>Aac	p.H244N		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCAGTGAGGTGGGAGGTGCAG	0.502													T	7846790	G	T	7846790	3	4	4	1	0	0	0	0	1	0	0	0	11179	1348	47	5	208	5	OR5P3	11	7846790	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	337203	7846790	127159726	2570	4635											
OR5P3	120066	broad.mit.edu	37	chr11	7847232	7847232	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacagagctgggccacacaAccagcaacagggagagaggt	14	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:7847232A>G	uc010rbg.2	-	0	288	c.288T>C	c.(286-288)ggT>ggC	p.G96G		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGGCCACACAACCAGCAACAG	0.537													G	7847232	A	G	7847232	2	3	4	1	0	0	0	0	0	0	0	1	11179	30	2	3		3	OR5P3	11	7847232	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	442	7847232	127159284	2571	4636											
NLRP10	338322	broad.mit.edu	37	chr11	7982197	7982197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataggagctgaagtacctcGccctctcctcctcagagaag	9	13	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:7982197G>A	uc001mfv.1	-	1	979	c.962C>T	c.(961-963)gCg>gTg	p.A321V		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	321	NACHT.						ATP binding	p.R320M(1)|p.A321A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAAGTACCTCGCCCTCTCCTC	0.512													A	7982197	G	A	7982197	3	1	4	1	0	0	0	0	1	0	0	0	10472	1087	38	1	1009	1	NLRP10	11	7982197	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	134965	7982197	127024319	2572	4637											
TUB	7275	broad.mit.edu	37	chr11	8119372	8119372	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagctatatcgggaaactgCggtactagcattcccccagg	10	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:8119372C>T	uc001mga.3	+	8	1147	c.998_splice	c.e8+1	p.R333_splice	TUB_uc010rbk.2_Splice_Site_p.R339_splice|TUB_uc001mfy.3_Splice_Site_p.R388_splice	NM_177972	NP_813977	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 2, mRNA.	333					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CGGGAAACTGCGGTACTAGCA	0.552													T	8119372	C	T	8119372	5	4	4	1	0	0	0	0	0	0	1	0	16739	782	27	1	1238	1	TUB	11	8119372	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	137175	8119372	126887144	2573	4638											
LMO1	4004	broad.mit.edu	37	chr11	8248580	8248580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacacgttgtcccgggcccGcatcaccatctcgaaggctg	10	15	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:8248580G>A	uc001mgg.1	-	2	804	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	LMO1_uc009yfo.1_Non-coding_Transcript|LMO1_uc001mgh.1_Missense_Mutation_p.R102W	NM_002315	NP_002306	P25800	RBTN1_HUMAN	Homo sapiens LIM domain only 1 (rhombotin 1) (LMO1), mRNA.	103	LIM zinc-binding 2.				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		TCCCGGGCCCGCATCACCATC	0.632			"T, A"	TRD@	"T-ALL, neuroblastoma"	neuroblastoma							A	8248580	G	A	8248580	3	1	4	1	0	0	0	0	1	0	0	0	8851	1086	38	1	171	1	LMO1	11	8248580	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	129208	8248580	126757936	2574	4639											
LMO1	4004	broad.mit.edu	37	chr11	8248591	8248591	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgggcccgcatcaccatcTcgaaggctgggatcagcttg	12	15	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:8248591T>C	uc001mgg.1	-	2	793	c.296A>G	c.(295-297)gAg>gGg	p.E99G	LMO1_uc009yfo.1_Non-coding_Transcript|LMO1_uc001mgh.1_Missense_Mutation_p.E98G	NM_002315	NP_002306	P25800	RBTN1_HUMAN	Homo sapiens LIM domain only 1 (rhombotin 1) (LMO1), mRNA.	99	LIM zinc-binding 2.				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		CATCACCATCTCGAAGGCTGG	0.612			"T, A"	TRD@	"T-ALL, neuroblastoma"	neuroblastoma							C	8248591	T	C	8248591	3	2	4	1	0	0	0	0	1	0	0	0	8851	1551	54	3	182	3	LMO1	11	8248591	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	11	8248591	126757925	2575	4640											
TMEM41B	440026	broad.mit.edu	37	chr11	9308018	9308018	+	Frame_Shift_Del	DEL	A	A	-													ttacctagaaaagtaccaatAaaaaaaactttcaatggcac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:9308017_9308017TA>T	uc001mhm.3	-	5	1018	c.691_691TA>A	c.(691-693)attfs	p.I231fs	TMEM41B_uc001mhn.2_Frame_Shift_Del_p.I231fs	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN	Homo sapiens transmembrane protein 41B (TMEM41B), transcript variant 1, mRNA.	231						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		AAAGTACCAATAAAAAAAACT	0.363													-	9308018	A	-	9308018	7	5	4	1	0	1	0	1	0	0	0	0	16162	359	13	0	193	0	TMEM41B	11	9308018	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	1059427	9308018	125698498	2576	4641											
IPO7	10527	broad.mit.edu	37	chr11	9457899	9457899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattctgcagtgcaaagggCgtggcattgaccaggtcagt	13	9	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:9457899C>T	uc001mho.3	+	19	2396	c.2254C>T	c.(2254-2256)Cgt>Tgt	p.R752C		NM_006391	NP_006382	O95373	IPO7_HUMAN	Homo sapiens importin 7 (IPO7), mRNA.	752					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	Ran GTPase binding|protein transporter activity|small GTPase regulator activity	p.G751G(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GTGCAAAGGGCGTGGCATTGA	0.403													T	9457899	C	T	9457899	3	4	4	1	0	0	0	0	1	0	0	0	7797	768	27	1	2332	1	IPO7	11	9457899	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	149881	9457899	125548617	2577	4642											
WEE1	7465	broad.mit.edu	37	chr11	9607038	9607038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccacaagttgaagagggCgatagtcgttttcttgcaaa	11	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:9607038C>T	uc001mhs.3	+	7	1687	c.1434C>T	c.(1432-1434)ggC>ggT	p.G478G	WEE1_uc001mht.3_Silent_p.G264G	NM_003390	NP_001137448	P30291	WEE1_HUMAN	Homo sapiens WEE1 homolog (S. pombe) (WEE1), transcript variant 1, mRNA.	478	Protein kinase.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|blood coagulation|cell cycle checkpoint|cell division|mitosis	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TTGAAGAGGGCGATAGTCGTT	0.368													T	9607038	C	T	9607038	2	4	4	1	0	0	0	0	0	0	0	1	17341	755	27	1		1	WEE1	11	9607038	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	149139	9607038	125399478	2578	4643											
SBF2	81846	broad.mit.edu	37	chr11	9806818	9806818	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacctcttctgataggaaggTaggttggtagacacaattcc	11	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:9806818T>C	uc001mib.2	-	36	5223	c.5085A>G	c.(5083-5085)ctA>ctG	p.L1695L	LOC283104_uc001mhz.1_Intron|SBF2_uc001mid.2_Silent_p.L339L|SBF2_uc001mic.2_5'UTR|BC073899_uc001mie.3_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	1695					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GATAGGAAGGTAGGTTGGTAG	0.498													C	9806818	T	C	9806818	2	2	4	1	0	0	0	0	0	0	0	1	13859	1625	57	3		3	SBF2	11	9806818	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	199780	9806818	125199698	2579	4644											
SBF2	81846	broad.mit.edu	37	chr11	9838554	9838554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatcaagcgagtgctagagcGaagacttgcccacacacctt	10	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:9838554G>A	uc001mib.2	-	28	3949	c.3811C>T	c.(3811-3813)Cgc>Tgc	p.R1271C	SBF2_uc001mid.2_5'UTR	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	1271	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GTGCTAGAGCGAAGACTTGCC	0.512													A	9838554	G	A	9838554	3	1	4	1	0	0	0	0	1	0	0	0	13859	1058	37	1	1786	1	SBF2	11	9838554	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	31736	9838554	125167962	2580	4645											
AMPD3	272	broad.mit.edu	37	chr11	10524314	10524314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgctcagatccccattgCcatgtctcctcttagcaaca	5	16	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:10524314C>T	uc001min.1	+	12	2261	c.1916C>T	c.(1915-1917)gCc>gTc	p.A639V	AMPD3_uc010rbz.1_Missense_Mutation_p.A471V|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.A630V|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.A637V|AMPD3_uc009yfy.2_Missense_Mutation_p.A630V	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	630					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		ATCCCCATTGCCATGTCTCCT	0.478													T	10524314	C	T	10524314	3	4	4	1	0	0	0	0	1	0	0	0	587	739	26	2	1986	2	AMPD3	11	10524314	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	685760	10524314	124482202	2581	4646											
AMPD3	272	broad.mit.edu	37	chr11	10527345	10527345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtggctcagatccggatgGcattccgatatgagacctta	11	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:10527345G>A	uc001min.1	+	14	2590	c.2245G>A	c.(2245-2247)Gca>Aca	p.A749T	AMPD3_uc010rbz.1_Missense_Mutation_p.A581T|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.A740T|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.A747T|AMPD3_uc009yfy.2_Missense_Mutation_p.A740T	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	740					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GATCCGGATGGCATTCCGATA	0.428													A	10527345	G	A	10527345	3	1	4	1	0	0	0	0	1	0	0	0	587	1203	42	2	2323	2	AMPD3	11	10527345	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3031	10527345	124479171	2582	4647											
ARNTL	406	broad.mit.edu	37	chr11	13402723	13402723	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaggataagagggtcatcGccttctagctgtggctccag	13	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:13402723G>A	uc001mkr.3	+	17	1947	c.1539G>A	c.(1537-1539)tcG>tcA	p.S513S	ARNTL_uc001mko.3_Silent_p.S469S|ARNTL_uc001mkp.3_Silent_p.S512S|ARNTL_uc001mkq.3_Silent_p.S512S|ARNTL_uc001mks.3_Silent_p.S470S|ARNTL_uc001mkt.3_Silent_p.S513S|ARNTL_uc001mkw.3_Silent_p.S470S|ARNTL_uc001mkx.3_Silent_p.S511S|ARNTL_uc001mky.3_Silent_p.S51S	NM_001178	NP_001169	O00327	BMAL1_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like (ARNTL), transcript variant 1, mRNA.	513				SP -> LR (in Ref. 2; AAC51213).	circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|Hsp90 protein binding|aryl hydrocarbon receptor binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		GAGGGTCATCGCCTTCTAGCT	0.478													A	13402723	G	A	13402723	2	1	4	1	0	0	0	0	0	0	0	1	967	1074	38	1		1	ARNTL	11	13402723	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2875378	13402723	121603793	2583	4648											
SPON1	10418	broad.mit.edu	37	chr11	14276113	14276113	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattttccgtggacagaacGcgccatttaatgtccttcct	8	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:14276113G>A	uc001mle.3	+	8	1195	c.927G>A	c.(925-927)acG>acA	p.T309T		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	310	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TGGACAGAACGCGCCATTTAA	0.512													A	14276113	G	A	14276113	2	1	4	1	0	0	0	0	0	0	0	1	15081	1074	38	1		1	SPON1	11	14276113	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	873390	14276113	120730403	2584	4649											
PLEKHA7	144100	broad.mit.edu	37	chr11	16837748	16837748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttccatgtaaactgggagCgctgacggtgtgggtcatgt	14	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:16837748C>T	uc010rcu.1	-	11	1945	c.1930G>A	c.(1930-1932)Gct>Act	p.A644T	PLEKHA7_uc001mmo.3_Missense_Mutation_p.A644T|PLEKHA7_uc010rcv.2_Missense_Mutation_p.A218T|PLEKHA7_uc001mmn.3_Missense_Mutation_p.A352T	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	644	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AAACTGGGAGCGCTGACGGTG	0.502													T	16837748	C	T	16837748	3	4	4	1	0	0	0	0	1	0	0	0	12061	768	27	1	1483	1	PLEKHA7	11	16837748	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2561635	16837748	118168768	2585	4650											
PLEKHA7	144100	broad.mit.edu	37	chr11	16892710	16892710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcacaggatgcctgaatgCtgtggtctgctggttatggc	14	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:16892710C>T	uc010rcu.1	-	3	256	c.241G>A	c.(241-243)Gca>Aca	p.A81T	PLEKHA7_uc001mmo.3_Missense_Mutation_p.A81T	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	81	WW 2.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGCCTGAATGCTGTGGTCTGC	0.428													T	16892710	C	T	16892710	3	4	4	1	0	0	0	0	1	0	0	0	12061	797	28	2	3204	2	PLEKHA7	11	16892710	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	54962	16892710	118113806	2586	4651											
TPH1	7166	broad.mit.edu	37	chr11	18048170	18048170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggatggaaaaacctgtacGctctgcaaagcaaaggagaa	11	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:18048170G>A	uc001mnp.2	-	5	696	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	224					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.R224H(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	AAACCTGTACGCTCTGCAAAG	0.423													A	18048170	G	A	18048170	3	1	4	1	0	0	0	0	1	0	0	0	16398	1087	38	1	684	1	TPH1	11	18048170	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1155460	18048170	116958346	2587	4652											
TMEM86A	144110	broad.mit.edu	37	chr11	18722705	18722705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctctgctgtaggtgacGccttcctcatctggcaggac	10	13	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:18722705G>A	uc001moz.1	+	1	330	c.247G>A	c.(247-249)Gcc>Acc	p.A83T		NM_153347	NP_699178	Q8N2M4	TM86A_HUMAN	Homo sapiens transmembrane protein 86A (TMEM86A), mRNA.	83						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						TGTAGGTGACGCCTTCCTCAT	0.617													A	18722705	G	A	18722705	3	1	4	1	0	0	0	0	1	0	0	0	16205	1087	38	1	253	1	TMEM86A	11	18722705	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	674535	18722705	116283811	2588	4653											
NAV2	89797	broad.mit.edu	37	chr11	20077375	20077375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccatgctgaggactcacaGcctctccaatgctgatgggc	11	13	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:20077375G>A	uc010rdm.2	+	19	5133	c.4772G>A	c.(4771-4773)aGc>aAc	p.S1591N	NAV2_uc001mpp.3_Missense_Mutation_p.S1504N|NAV2_uc001mpr.4_Missense_Mutation_p.S1568N|NAV2_uc021qew.1_Missense_Mutation_p.S1568N|NAV2_uc001mpt.2_Missense_Mutation_p.S617N|NAV2_uc009yhx.3_Missense_Mutation_p.S632N|NAV2_uc009yhy.1_Missense_Mutation_p.S530N|NAV2_uc009yhz.3_Missense_Mutation_p.S213N|NAV2_uc001mpu.3_Missense_Mutation_p.S6N	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1591	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGGACTCACAGCCTCTCCAAT	0.502													A	20077375	G	A	20077375	3	1	4	1	0	0	0	0	1	0	0	0	10184	971	34	2	4886	2	NAV2	11	20077375	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1354670	20077375	114929141	2589	4654											
MPPED2	744	broad.mit.edu	37	chr11	30601840	30601840	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctggttgatgttgtagtgCgtgaatgcctgggtggggtt	17	5	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:30601840C>T	uc001msr.3	-	0	202	c.81G>A	c.(79-81)acG>acA	p.T27T	MPPED2_uc001msq.3_Silent_p.T27T|MPPED2_uc009yji.3_5'UTR	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	Homo sapiens metallophosphoesterase domain containing 2 (MPPED2), transcript variant 1, mRNA.	27					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TGTTGTAGTGCGTGAATGCCT	0.428													T	30601840	C	T	30601840	2	4	4	1	0	0	0	0	0	0	0	1	9742	755	27	1		1	MPPED2	11	30601840	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	10524465	30601840	104404676	2590	4655											
EIF3M	10480	broad.mit.edu	37	chr11	32615446	32615446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtcatggtggaattgctcGgaagttacacagaggacaat	12	6	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:32615446G>A	uc001mtu.3	+	5	611	c.568G>A	c.(568-570)Gga>Aga	p.G190R	EIF3M_uc010ref.2_Missense_Mutation_p.G58R	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit M (EIF3M), mRNA.	190						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					GGAATTGCTCGGAAGTTACAC	0.388													A	32615446	G	A	32615446	3	1	4	1	0	0	0	0	1	0	0	0	5023	1117	39	1	590	1	EIF3M	11	32615446	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2013606	32615446	102391070	2591	4656											
QSER1	79832	broad.mit.edu	37	chr11	32975681	32975681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaggccaatacagagagCgtgatgaatttgtggtaaag	14	4	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:32975681C>T	uc001mty.3	+	4	4336	c.4069C>T	c.(4069-4071)Cgt>Tgt	p.R1357C	QSER1_uc001mtz.1_Missense_Mutation_p.R1118C|QSER1_uc001mua.3_Missense_Mutation_p.R862C	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	1357										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ATACAGAGAGCGTGATGAATT	0.433													T	32975681	C	T	32975681	3	4	4	1	0	0	0	0	1	0	0	0	12882	768	27	1	4079	1	QSER1	11	32975681	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	360235	32975681	102030835	2592	4657											
CSTF3	1479	broad.mit.edu	37	chr11	33120306	33120306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaccttttcatacttcatgCgactctaaggtggtacagaa	8	9	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:33120306C>T	uc001muh.3	-	12	1224	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H	TCP11L1_uc001muf.1_Intron	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa (CSTF3), transcript variant 1, mRNA.	353					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ATACTTCATGCGACTCTAAGG	0.398													T	33120306	C	T	33120306	3	4	4	1	0	0	0	0	1	0	0	0	3986	768	27	1	1131	1	CSTF3	11	33120306	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	144625	33120306	101886210	2593	4658											
C11orf41	25758	broad.mit.edu	37	chr11	33565790	33565790	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagaacatcttgggatatcActctgctgctgaatcttcta	7	11	5	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:33565790A>G	uc021qfs.1	+	0	1914	c.1790A>G	c.(1789-1791)cAc>cGc	p.H597R	C11orf41_uc001mun.1_Missense_Mutation_p.H597R	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	597						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						TTGGGATATCACTCTGCTGCT	0.483													G	33565790	A	G	33565790	3	3	4	1	0	0	0	0	1	0	0	0	1640	159	6	3	1792	3	C11orf41	11	33565790	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	445484	33565790	101440726	2594	4659											
LMO2	4005	broad.mit.edu	37	chr11	33881013	33881013	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgcttctgacaggcggcGcatttgaaacattccaggtg	11	9	1	2	rs150885335		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:33881013G>A	uc001mve.3	-	2	805	c.366C>T	c.(364-366)tgC>tgT	p.C122C	LMO2_uc001mvc.3_Silent_p.C115C|LMO2_uc001mvd.3_Silent_p.C115C|LMO2_uc010rel.2_Silent_p.C122C|LMO2_uc010rem.2_Silent_p.C191C	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN	Homo sapiens LIM domain only 2 (rhombotin-like 1) (LMO2), transcript variant 3, mRNA.	122	LIM zinc-binding 2.				multicellular organismal development	nucleus	protein binding|zinc ion binding	p.K121K(1)|p.K121E(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						GACAGGCGGCGCATTTGAAAC	0.488			T	TRD@	T-ALL								A	33881013	G	A	33881013	2	1	4	1	0	0	0	0	0	0	0	1	8852	1079	38	1		1	LMO2	11	33881013	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	315223	33881013	101125503	2595	4660											
ABTB2	25841	broad.mit.edu	37	chr11	34218942	34218942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactccatctgtggacaccGcagaaagtagtagagcgtgt	13	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:34218942G>A	uc001mvl.2	-	2	1599	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA.	206							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TGTGGACACCGCAGAAAGTAG	0.647													A	34218942	G	A	34218942	3	1	4	1	0	0	0	0	1	0	0	0	103	1086	38	1	1963	1	ABTB2	11	34218942	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	337929	34218942	100787574	2596	4661											
ELF5	2001	broad.mit.edu	37	chr11	34515211	34515211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagccactcccacacatggCgcttagtccagtattcaggg	11	13	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:34515211C>T	uc001mvo.1	-	2	430	c.200G>A	c.(199-201)cGc>cAc	p.R67H	ELF5_uc021qft.1_Intron|ELF5_uc001mvp.2_Missense_Mutation_p.R57H|ELF5_uc009ykd.2_Intron|ELF5_uc001mvq.2_Missense_Mutation_p.R57H	NM_198381	NP_001413	Q9UKW6	ELF5_HUMAN	Homo sapiens E74-like factor 5 (ets domain transcription factor) (ELF5), transcript variant 1, mRNA.	67	PNT.				cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				CCACACATGGCGCTTAGTCCA	0.527											OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	34515211	C	T	34515211	3	4	4	1	0	0	0	0	1	0	0	0	5057	768	27	1	617	1	ELF5	11	34515211	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	296269	34515211	100491305	2597	4662											
EHF	26298	broad.mit.edu	37	chr11	34680177	34680177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaagaccgatctgagggCgtcttcaggttcttgaaatc	13	8	4	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:34680177C>T	uc021qfu.1	+	7	897	c.771C>T	c.(769-771)ggC>ggT	p.G257G	EHF_uc001mvr.2_Silent_p.G235G|EHF_uc009yke.2_Silent_p.G212G|EHF_uc009ykf.2_Silent_p.G238G	NM_001206616	NP_001193545	Q9NZC4	EHF_HUMAN	Homo sapiens ets homologous factor (EHF), transcript variant 1, mRNA.	235					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GATCTGAGGGCGTCTTCAGGT	0.488													T	34680177	C	T	34680177	2	4	4	1	0	0	0	0	0	0	0	1	4981	755	27	1		1	EHF	11	34680177	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	164966	34680177	100326339	2598	4663											
PDHX	8050	broad.mit.edu	37	chr11	34988196	34988196	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttatttccagggatgctctCaaacttgtccagttgaaaca	7	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:34988196C>A	uc001mvt.3	+	5	1177	c.651C>A	c.(649-651)ctC>ctA	p.L217L	PDHX_uc010rep.2_Silent_p.L202L|PDHX_uc010req.2_Intron	NM_003477	NP_003468	O00330	ODPX_HUMAN	Homo sapiens pyruvate dehydrogenase complex, component X (PDHX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	217					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity	p.A216S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			GGGATGCTCTCAAACTTGTCC	0.468													A	34988196	C	A	34988196	2	1	4	1	0	0	0	0	0	0	0	1	11667	813	29	5		5	PDHX	11	34988196	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	308019	34988196	100018320	2599	4664											
PDHX	8050	broad.mit.edu	37	chr11	34988232	34988232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacaaacgggcaagattacCgagtccagaccaactccagc	8	13	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:34988232C>T	uc001mvt.3	+	5	1213	c.687C>T	c.(685-687)acC>acT	p.T229T	PDHX_uc010rep.2_Silent_p.T214T|PDHX_uc010req.2_Intron	NM_003477	NP_003468	O00330	ODPX_HUMAN	Homo sapiens pyruvate dehydrogenase complex, component X (PDHX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	229					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			GCAAGATTACCGAGTCCAGAC	0.502													T	34988232	C	T	34988232	2	4	4	1	0	0	0	0	0	0	0	1	11667	639	23	1		1	PDHX	11	34988232	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	36	34988232	100018284	2600	4665											
LDLRAD3	143458	broad.mit.edu	37	chr11	36250736	36250736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtatgaccttcctccacCgccctactcttctgacacgg	8	16	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:36250736C>T	uc001mwk.1	+	5	864	c.827C>T	c.(826-828)cCg>cTg	p.P276L	LDLRAD3_uc010rey.1_Missense_Mutation_p.P227L|LDLRAD3_uc010rez.1_Missense_Mutation_p.P155L|LDLRAD3_uc010rfa.1_Non-coding_Transcript	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	Homo sapiens low density lipoprotein receptor class A domain containing 3 (LDLRAD3), mRNA.	276	Poly-Pro.					integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CTTCCTCCACCGCCCTACTCT	0.617													T	36250736	C	T	36250736	3	4	4	1	0	0	0	0	1	0	0	0	8707	652	23	1	849	1	LDLRAD3	11	36250736	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1262504	36250736	98755780	2601	4666											
LDLRAD3	143458	broad.mit.edu	37	chr11	36250849	36250849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccagcagcctcctgagcGtggaagacaccagccacagc	11	16	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:36250849G>A	uc001mwk.1	+	5	977	c.940G>A	c.(940-942)Gtg>Atg	p.V314M	LDLRAD3_uc010rey.1_Missense_Mutation_p.V265M|LDLRAD3_uc010rez.1_Missense_Mutation_p.V193M|LDLRAD3_uc010rfa.1_Non-coding_Transcript	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	Homo sapiens low density lipoprotein receptor class A domain containing 3 (LDLRAD3), mRNA.	314						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CCTCCTGAGCGTGGAAGACAC	0.662													A	36250849	G	A	36250849	3	1	4	1	0	0	0	0	1	0	0	0	8707	1145	40	1	962	1	LDLRAD3	11	36250849	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	113	36250849	98755667	2602	4667											
COMMD9	29099	broad.mit.edu	37	chr11	36300147	36300147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccaccagcctagtgaggCggtgcagagcctggagcagc	15	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:36300147C>T	uc001mwn.4	-	2	234	c.197G>A	c.(196-198)cGc>cAc	p.R66H	COMMD9_uc009ykj.3_Missense_Mutation_p.R24H|COMMD9_uc010rfb.1_Missense_Mutation_p.R66H	NM_014186	NP_054905	Q9P000	COMD9_HUMAN	Homo sapiens COMM domain containing 9 (COMMD9), transcript variant 1, mRNA.	66										kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				CCTAGTGAGGCGGTGCAGAGC	0.567													T	36300147	C	T	36300147	3	4	4	1	0	0	0	0	1	0	0	0	3723	768	27	1	415	1	COMMD9	11	36300147	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	49298	36300147	98706369	2603	4668											
RAG1	5896	broad.mit.edu	37	chr11	36595270	36595270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggatggtaaaaccctagGccttttacgaaagaaggaaa	11	6	0	1	rs140648865		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:36595270G>A	uc021qgb.1	+	0	416	c.416G>A	c.(415-417)gGc>gAc	p.G139D	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.G139D	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	139	Interaction with importin alpha-1.				T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AAAACCCTAGGCCTTTTACGA	0.498									Familial Hemophagocytic Lymphohistiocytosis				A	36595270	G	A	36595270	3	1	4	1	0	0	0	0	1	0	0	0	13003	1203	42	2	418	2	RAG1	11	36595270	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	295123	36595270	98411246	2604	4669											
LRRC4C	57689	broad.mit.edu	37	chr11	40136706	40136706	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagatacagatgtcagggaTgtggaggcccgacatttcag	13	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:40136706T>C	uc021qgf.1	-	0	1137	c.1137A>G	c.(1135-1137)acA>acG	p.T379T	LRRC4C_uc001mxc.1_Silent_p.T375T|LRRC4C_uc001mxd.1_Silent_p.T375T|LRRC4C_uc001mxa.1_Silent_p.T379T|LRRC4C_uc001mxb.1_Silent_p.T375T	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	379	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATGTCAGGGATGTGGAGGCCC	0.493													C	40136706	T	C	40136706	2	2	4	1	0	0	0	0	0	0	0	1	9008	1451	51	3		3	LRRC4C	11	40136706	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	3541436	40136706	94869810	2605	4670											
TTC17	55761	broad.mit.edu	37	chr11	43513699	43513699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacttcactctgggcaatGtctacgtggcaatggtgaga	11	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:43513699G>A	uc001mxi.3	+	22	3350	c.3280G>A	c.(3280-3282)Gtc>Atc	p.V1094I	TTC17_uc010rfj.2_Missense_Mutation_p.V1094I|TTC17_uc001mxl.3_Missense_Mutation_p.V150I	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	1094							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TCTGGGCAATGTCTACGTGGC	0.478													A	43513699	G	A	43513699	3	1	4	1	0	0	0	0	1	0	0	0	16681	1377	48	4	3370	4	TTC17	11	43513699	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3376993	43513699	91492817	2606	4671											
ACCS	84680	broad.mit.edu	37	chr11	44099449	44099449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggagaagctggagatgGccctgagagaagctcactct	14	9	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:44099449G>A	uc009yks.1	+	7	853	c.709G>A	c.(709-711)Gcc>Acc	p.A237T	EXT2_uc010rfo.2_Intron|ACCS_uc010rfm.1_3'UTR|ACCS_uc001mxx.2_Missense_Mutation_p.A237T	NM_001127219	NP_115981	Q96QU6	1A1L1_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) (ACCS), transcript variant 2, mRNA.	237							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GCTGGAGATGGCCCTGAGAGA	0.562													A	44099449	G	A	44099449	3	1	4	1	0	0	0	0	1	0	0	0	133	1203	42	2	735	2	ACCS	11	44099449	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	585750	44099449	90907067	2607	4672											
TSPAN18	90139	broad.mit.edu	37	chr11	44931414	44931414	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggcttcctgggctgctgCggggccgtccgtgagaacaa	15	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:44931414C>T	uc001myg.3	+	1	232	c.222C>T	c.(220-222)tgC>tgT	p.C74C	TSPAN18_uc001mye.4_Silent_p.C74C|TP53I11_uc001myf.1_Intron	NM_130783	NP_570139	Q96SJ8	TSN18_HUMAN	Homo sapiens tetraspanin 18 (TSPAN18), mRNA.	74						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						TGGGCTGCTGCGGGGCCGTCC	0.637													T	44931414	C	T	44931414	2	4	4	1	0	0	0	0	0	0	0	1	16639	776	27	1		1	TSPAN18	11	44931414	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	831965	44931414	90075102	2608	4673											
MAPK8IP1	9479	broad.mit.edu	37	chr11	45925641	45925641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacgaggcctacaacatgcGcactggtgcccggggtgtct	14	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:45925641G>A	uc001nbr.3	+	6	1920	c.1595G>A	c.(1594-1596)cGc>cAc	p.R532H		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	532	SH3.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	MAP-kinase scaffold activity|kinesin binding|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TACAACATGCGCACTGGTGCC	0.592													A	45925641	G	A	45925641	3	1	4	1	0	0	0	0	1	0	0	0	9284	1087	38	1	1621	1	MAPK8IP1	11	45925641	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	994227	45925641	89080875	2609	4674											
PHF21A	51317	broad.mit.edu	37	chr11	45959804	45959804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatacacgggaacatgtgtcGcacatcagtaactggccact	9	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:45959804G>A	uc001ncc.4	-	14	2133	c.1509C>T	c.(1507-1509)tgC>tgT	p.C503C	PHF21A_uc001ncb.4_Silent_p.C457C|PHF21A_uc009ykx.3_Silent_p.C457C|PHF21A_uc001nca.1_Silent_p.C239C	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA.	503	Required for transcriptional repression.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						AACATGTGTCGCACATCAGTA	0.443													A	45959804	G	A	45959804	2	1	4	1	0	0	0	0	0	0	0	1	11833	1079	38	1		1	PHF21A	11	45959804	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	34163	45959804	89046712	2610	4675											
CHRM4	1132	broad.mit.edu	37	chr11	46408103	46408103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgacaggtgtgaagttgGccatgttggttgccaggggt	16	6	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:46408103G>A	uc001nct.1	-	0	5	c.5C>T	c.(4-6)gCc>gTc	p.A2V		NM_000741	NP_000732	P08173	ACM4_HUMAN	Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	2					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	TGTGAAGTTGGCCATGTTGGT	0.557													A	46408103	G	A	46408103	3	1	4	1	0	0	0	0	1	0	0	0	3379	1203	42	2	1438	2	CHRM4	11	46408103	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	448299	46408103	88598413	2611	4676											
AMBRA1	55626	broad.mit.edu	37	chr11	46419227	46419227	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccgggggcttaggcctcGctctgccagttgcccggcct	14	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:46419227G>A	uc001ncv.2	-	19	3993	c.3679C>T	c.(3679-3681)Cga>Tga	p.R1227*	AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Nonsense_Mutation_p.R1195*|AMBRA1_uc001ncu.1_Nonsense_Mutation_p.R1134*|AMBRA1_uc010rgu.1_Nonsense_Mutation_p.R1224*|AMBRA1_uc001ncw.2_Nonsense_Mutation_p.R1105*|AMBRA1_uc001ncx.2_Nonsense_Mutation_p.R1164*	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	1224					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTTAGGCCTCGCTCTGCCAGT	0.692													A	46419227	G	A	46419227	4	1	4	1	0	0	0	0	0	1	0	0	565	1095	38	1	230	1	AMBRA1	11	46419227	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	11124	46419227	88587289	2612	4677											
HARBI1	283254	broad.mit.edu	37	chr11	46637365	46637365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacccccatcacccctggCatccctgccaacccatagaa	4	21	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:46637365C>T	uc001ncy.3	-	1	671	c.423G>A	c.(421-423)atG>atA	p.M141I	ATG13_uc009yld.3_5'Flank|ATG13_uc001nda.3_5'Flank|ATG13_uc001ndb.3_5'Flank|ATG13_uc001ncz.3_5'Flank|ATG13_uc001ndc.3_5'Flank|ATG13_uc010rgv.2_5'Flank	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	Homo sapiens harbinger transposase derived 1 (HARBI1), mRNA.	141						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						TCACCCCTGGCATCCCTGCCA	0.507													T	46637365	C	T	46637365	3	4	4	1	0	0	0	0	1	0	0	0	6958	710	25	2	634	2	HARBI1	11	46637365	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	218138	46637365	88369151	2613	4678											
CKAP5	9793	broad.mit.edu	37	chr11	46797803	46797803	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgattaatttatgatactaAcctcttgcctcaagaaagga	6	7	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:46797803A>G	uc001ndi.2	-	24	3117	c.2991_splice	c.e24+1	p.E997_splice	CKAP5_uc009ylg.1_Splice_Site_p.E883_splice|CKAP5_uc001ndj.2_Splice_Site_p.E997_splice	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	997					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TATGATACTAACCTCTTGCCT	0.403													G	46797803	A	G	46797803	5	3	4	1	0	0	0	0	0	0	1	0	3445	57	2	3	3189	3	CKAP5	11	46797803	Splice_Site	SNP	A	TCGA-BR-4184-01A-01D-1126-08	160438	46797803	88208713	2614	4679											
LRP4	4038	broad.mit.edu	37	chr11	46880599	46880599	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtctggcagagagcctcGtctttctggagtggctgcag	15	10	3	1	rs147138337		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:46880599G>A	uc001ndn.4	-	37	5896	c.5653C>T	c.(5653-5655)Cga>Tga	p.R1885*	LOC100507401_uc001ndl.3_Intron|LRP4_uc001ndm.4_Nonsense_Mutation_p.R127*	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1885					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.R1884R(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGAGAGCCTCGTCTTTCTGGA	0.567													A	46880599	G	A	46880599	4	1	4	1	0	0	0	0	0	1	0	0	8959	1153	40	1	68	1	LRP4	11	46880599	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	82796	46880599	88125917	2615	4680											
ARFGAP2	84364	broad.mit.edu	37	chr11	47188378	47188378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctcctgcgaatttctgaCgcgcctcactagactcgagg	11	13	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:47188378C>T	uc001ndt.3	-	12	1537	c.1265G>A	c.(1264-1266)cGt>cAt	p.R422H	ARFGAP2_uc010rha.2_Missense_Mutation_p.R153H|ARFGAP2_uc010rhb.2_Missense_Mutation_p.R394H|ARFGAP2_uc001ndu.3_Missense_Mutation_p.R286H|ARFGAP2_uc010rhc.2_Missense_Mutation_p.R153H	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 2 (ARFGAP2), transcript variant 1, mRNA.	422	Required for interaction with coatomer.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GAATTTCTGACGCGCCTCACT	0.577													T	47188378	C	T	47188378	3	4	4	1	0	0	0	0	1	0	0	0	850	536	19	1	316	1	ARFGAP2	11	47188378	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	307779	47188378	87818138	2616	4681											
NR1H3	10062	broad.mit.edu	37	chr11	47282972	47282972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaacagtgtaaccggcGctccttttctgaccggcttc	9	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:47282972G>A	uc009ylm.3	+	4	930	c.680G>A	c.(679-681)cGc>cAc	p.R227H	NR1H3_uc010rhk.2_Missense_Mutation_p.R233H|NR1H3_uc009yll.2_Missense_Mutation_p.R233H|NR1H3_uc001nek.3_Missense_Mutation_p.R182H|NR1H3_uc001nen.4_Missense_Mutation_p.R227H|NR1H3_uc001nem.3_Missense_Mutation_p.R227H	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 3 (NR1H3), transcript variant 1, mRNA.	227	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	p.R227L(2)|p.R226Q(1)|p.R226W(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TGTAACCGGCGCTCCTTTTCT	0.617													A	47282972	G	A	47282972	3	1	4	1	0	0	0	0	1	0	0	0	10618	1087	38	1	694	1	NR1H3	11	47282972	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	94594	47282972	87723544	2617	4682											
MYBPC3	4607	broad.mit.edu	37	chr11	47367812	47367812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctctttagcatgccgcGcaggtcagtgacgccgtact	12	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:47367812G>A	uc021qis.1	-	11	1091	c.1036C>T	c.(1036-1038)Cgc>Tgc	p.R346C	MYBPC3_uc021qir.1_5'UTR	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	346					cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		AGCATGCCGCGCAGGTCAGTG	0.622													A	47367812	G	A	47367812	3	1	4	1	0	0	0	0	1	0	0	0	10013	1087	38	1	2876	1	MYBPC3	11	47367812	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	84840	47367812	87638704	2618	4683											
CELF1	10658	broad.mit.edu	37	chr11	47505972	47505972	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccatcaggtccccgcaatatCcggcattcttcaatctgtcc	6	16	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:47505972C>T	uc001nfp.3	-	6	897	c.495G>A	c.(493-495)cgG>cgA	p.R165R	CELF1_uc001nfl.3_Silent_p.R138R|CELF1_uc010rhm.2_Silent_p.R137R|CELF1_uc001nfm.3_Silent_p.R138R|CELF1_uc001nfk.2_Silent_p.R164R|CELF1_uc001nfn.3_Silent_p.R138R|CELF1_uc001nfr.1_Silent_p.R138R	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	Homo sapiens CUGBP, Elav-like family member 1 (CELF1), transcript variant 3, mRNA.	138	RRM 2.				RNA interference|embryo development|mRNA splice site selection|regulation of RNA splicing	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CCCGCAATATCCGGCATTCTT	0.398													T	47505972	C	T	47505972	2	4	4	1	0	0	0	0	0	0	0	1	3215	842	30	4		4	CELF1	11	47505972	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	138160	47505972	87500544	2619	4684											
PTPRJ	5795	broad.mit.edu	37	chr11	48145282	48145282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcttgaaagcattggaaGccatgaggagttgactcaag	11	7	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:48145282G>A	uc001ngp.4	+	4	1089	c.734G>A	c.(733-735)aGc>aAc	p.S245N	PTPRJ_uc001ngo.4_Missense_Mutation_p.S245N	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	245	Fibronectin type-III 2.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AGCATTGGAAGCCATGAGGAG	0.512													A	48145282	G	A	48145282	3	1	4	1	0	0	0	0	1	0	0	0	12804	971	34	2	752	2	PTPRJ	11	48145282	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	639310	48145282	86861234	2620	4685											
FOLH1	2346	broad.mit.edu	37	chr11	49179535	49179535	+	Frame_Shift_Del	DEL	T	T	-													actgaactctggggaaggacTttttttagtccaactttcat							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:49179534_49179534CT>C	uc001ngy.3	-	13	1763	c.1502_1502AG>G	c.(1501-1503)agtfs	p.S501fs	FOLH1_uc009yly.3_Frame_Shift_Del_p.S486fs|FOLH1_uc009ylz.3_Frame_Shift_Del_p.S486fs|FOLH1_uc001ngz.3_Frame_Shift_Del_p.S501fs|FOLH1_uc009yma.3_Frame_Shift_Del_p.S193fs	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	501	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.K500E(1)|p.S501fs*12(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TGGGGAAGGACTTTTTTTAGT	0.348													-	49179535	T	-	49179535	7	5	4	1	0	1	0	1	0	0	0	0	5979	1609	56	0	775	0	FOLH1	11	49179535	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	1034253	49179535	85826981	2621	4686											
OR4A16	81327	broad.mit.edu	37	chr11	55110982	55110982	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgggtcagctcttcatagaAcacttacttggtggtgcaga	11	8	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:55110982A>C	uc010rie.2	+	0	306	c.306A>C	c.(304-306)gaA>gaC	p.E102D		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TCTTCATAGAACACTTACTTG	0.438													C	55110982	A	C	55110982	3	2	4	1	0	0	0	0	1	0	0	0	11041	40	2	5	308	5	OR4A16	11	55110982	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	5931447	55110982	79895534	2622	4687											
OR4A15	81328	broad.mit.edu	37	chr11	55136066	55136066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatggaggagcgatttgtgCtgtcaccttcttcactatcc	9	10	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:55136066C>T	uc010rif.2	+	0	707	c.707C>T	c.(706-708)gCt>gTt	p.A236V		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C235F(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GCGATTTGTGCTGTCACCTTC	0.428													T	55136066	C	T	55136066	3	4	4	1	0	0	0	0	1	0	0	0	11040	797	28	2	709	2	OR4A15	11	55136066	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	25084	55136066	79870450	2623	4688											
OR4C16	219428	broad.mit.edu	37	chr11	55339888	55339888	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actatctccttcagcgagtgCatgatccaagtcttttcatc	6	12	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:55339888C>T	uc010rih.2	+	0	285	c.285C>T	c.(283-285)tgC>tgT	p.C95C		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E94K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TCAGCGAGTGCATGATCCAAG	0.468													T	55339888	C	T	55339888	2	4	4	1	0	0	0	0	0	0	0	1	11049	718	25	2		2	OR4C16	11	55339888	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	203822	55339888	79666628	2624	4689											
OR5D14	219436	broad.mit.edu	37	chr11	55563305	55563305	+	Frame_Shift_Del	DEL	A	A	-													agaacttggtaatggcagatAaaagcatcttctactttagc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:55563305delA	uc010rim.1	+	1	274	c.274delA	c.(274-276)AAAfs	p.K92fs		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	92	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)				AATGGCAGATAAAAGCATCTT	0.443													-	55563305	A	-	55563305	7	5	4	1	0	1	0	1	0	0	0	0	11155	363	13	0	276	0	OR5D14	11	55563305	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	223417	55563305	79443211	2625	4690											
OR10AG1	282770	broad.mit.edu	37	chr11	55735774	55735774	+	Missense_Mutation	SNP	T	T	G													gatttccaaaagggaaaaatTgctaagaaaaaaatacatgg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:55735774T>G	uc010rit.2	-	0	166	c.166A>C	c.(166-168)Aat>Cat	p.N56H		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N56N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AGGGAAAAATTGCTAAGAAAA	0.343													G	55735774	T	G	55735774	3	3	4	1	0	0	0	0	1	0	0	0	10897	1812	63	5	742	5	OR10AG1	11	55735774	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	172469	55735774	79270742	2626	4691	8	2									
OR10AG1	282770	broad.mit.edu	37	chr11	55735781	55735781	+	Silent	SNP	A	A	G													aaaagggaaaaattgctaagAaaaaaatacatgggagtctg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:55735781A>G	uc010rit.2	-	0	159	c.159T>C	c.(157-159)ttT>ttC	p.F53F		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AATTGCTAAGAAAAAAATACA	0.328													G	55735781	A	G	55735781	2	3	4	1	0	0	0	0	0	0	0	1	10897	243	9	3		3	OR10AG1	11	55735781	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	7	55735781	79270735	2627	4692	8	2									
OR8H2	390151	broad.mit.edu	37	chr11	55872941	55872941	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attatgtccaaaaggctctgCctcgctctcatcactgggcc	8	14	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:55872941C>T	uc010riy.2	+	0	423	c.423C>T	c.(421-423)tgC>tgT	p.C141C		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AAAGGCTCTGCCTCGCTCTCA	0.458										HNSCC(53;0.14)			T	55872941	C	T	55872941	2	4	4	1	0	0	0	0	0	0	0	1	11238	747	26	2		2	OR8H2	11	55872941	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	137160	55872941	79133575	2628	4693											
OR8H3	390152	broad.mit.edu	37	chr11	55889929	55889929	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagaggtccagatggcTctgtttatgctatttctcct	9	9	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:55889929T>C	uc001nii.1	+	0	81	c.81T>C	c.(79-81)gcT>gcC	p.A27A		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TCCAGATGGCTCTGTTTATGC	0.468													C	55889929	T	C	55889929	2	2	4	1	0	0	0	0	0	0	0	1	11239	1538	54	3		3	OR8H3	11	55889929	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	16988	55889929	79116587	2629	4694											
OR8K1	390157	broad.mit.edu	37	chr11	56114241	56114241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggaaagggaggtacaaaGccttctccacctgtagctct	10	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:56114241G>A	uc010rjg.2	+	0	727	c.727G>A	c.(727-729)Gcc>Acc	p.A243T		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GAGGTACAAAGCCTTCTCCAC	0.413										HNSCC(65;0.19)			A	56114241	G	A	56114241	3	1	4	1	0	0	0	0	1	0	0	0	11243	971	34	2	729	2	OR8K1	11	56114241	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	224312	56114241	78892275	2630	4695											
OR8U8	504189	broad.mit.edu	37	chr11	56143919	56143919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggacacagacaagatgGcctctgtcttctacacagtg	9	13	3	2	rs140673261	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:56143919G>A	uc001nit.2	+	0	820	c.820G>A	c.(820-822)Gcc>Acc	p.A274T		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										AGACAAGATGGCCTCTGTCTT	0.443													A	56143919	G	A	56143919	3	1	4	1	0	0	0	0	1	0	0	0	11247	1203	42	2	14	2	OR8U8	11	56143919	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	29678	56143919	78862597	2631	4696											
OR5M8	219484	broad.mit.edu	37	chr11	56258342	56258342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgattaatttcattggggcCacagaaggctaggttgtagg	14	5	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:56258342C>T	uc001nix.1	-	0	505	c.505G>A	c.(505-507)Ggc>Agc	p.G169S	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TCATTGGGGCCACAGAAGGCT	0.498													T	56258342	C	T	56258342	3	4	4	1	0	0	0	0	1	0	0	0	11176	594	21	4	434	4	OR5M8	11	56258342	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	114423	56258342	78748174	2632	4697											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57076125	57076125	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acttggagccccaaagagctCcacattctggggcgccaagt	11	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:57076125C>A	uc001njr.3	-	4	4372	c.4060G>T	c.(4060-4062)Gag>Tag	p.E1354*	TNKS1BP1_uc001njs.3_Nonsense_Mutation_p.E1354*|TNKS1BP1_uc009ymd.1_Nonsense_Mutation_p.E805*	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1354	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCAAAGAGCTCCACATTCTGG	0.647													A	57076125	C	A	57076125	4	1	4	1	0	0	0	0	0	1	0	0	16317	864	30	5	1153	5	TNKS1BP1	11	57076125	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	817783	57076125	77930391	2633	4698											
CLP1	10978	broad.mit.edu	37	chr11	57428850	57428850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttctgtctccagcccctcGcccactgcctaagaacttcc	6	18	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:57428850G>A	uc001nkw.3	+	2	1359	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	CLP1_uc010rjw.2_Missense_Mutation_p.R343H|CLP1_uc009yml.3_Missense_Mutation_p.R407H	NM_006831	NP_006822	Q92989	CLP1_HUMAN	Homo sapiens CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae) (CLP1), transcript variant 1, mRNA.	407					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|tRNA splicing, via endonucleolytic cleavage and ligation|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity	p.R407C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						CCAGCCCCTCGCCCACTGCCT	0.517													A	57428850	G	A	57428850	3	1	4	1	0	0	0	0	1	0	0	0	3550	1087	38	1	1226	1	CLP1	11	57428850	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	352725	57428850	77577666	2634	4699											
CTNND1	1500	broad.mit.edu	37	chr11	57569589	57569589	+	Frame_Shift_Del	DEL	A	A	-													caggataacaagattgccatAaaaaactgtgatggtgtgcc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:57569588_57569588TA>T	uc001nmc.4	+	6	1911	c.1340_1340TA>T	c.(1339-1341)atafs	p.I447fs	CTNND1_uc001nlf.2_Frame_Shift_Del_p.I447fs|CTNND1_uc021qjk.1_Frame_Shift_Del_p.I447fs|CTNND1_uc001nlh.1_Frame_Shift_Del_p.I447fs|CTNND1_uc001nlj.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlq.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlr.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nln.4_Frame_Shift_Del_p.I447fs|CTNND1_uc001nli.4_Frame_Shift_Del_p.I447fs|CTNND1_uc001nlo.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlp.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlu.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlt.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlv.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nls.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlw.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nmf.4_Frame_Shift_Del_p.I447fs|CTNND1_uc001nlx.4_Frame_Shift_Del_p.I124fs|CTNND1_uc001nlz.4_Frame_Shift_Del_p.I124fs|CTNND1_uc009ymn.3_Frame_Shift_Del_p.I124fs|CTNND1_uc001nly.4_Frame_Shift_Del_p.I124fs|CTNND1_uc001nmb.4_Frame_Shift_Del_p.I124fs|CTNND1_uc001nma.4_Frame_Shift_Del_p.I124fs|CTNND1_uc001nmd.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlk.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nme.4_Frame_Shift_Del_p.I447fs|CTNND1_uc001nll.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlm.4_Frame_Shift_Del_p.I447fs|CTNND1_uc001nmi.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nmg.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nmh.4_Frame_Shift_Del_p.I447fs	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	447					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AAGATTGCCATAAAAAACTGT	0.468													-	57569589	A	-	57569589	7	5	4	1	0	1	0	1	0	0	0	0	4019	352	13	0	1359	0	CTNND1	11	57569589	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	140739	57569589	77436927	2635	4700											
OR5B12	390191	broad.mit.edu	37	chr11	58207028	58207029	+	Frame_Shift_Ins	INS	-	-	A													ggtcattgaatcccaccacaINSaaaaaaataaccatctcact							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:58207027_58207028C>CA	uc010rkh.2	-	0	619_620	c.597_598G>TG	c.(595-600)tttgtgfs	p.F199fs		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F199fs*13(2)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AATCCCACCACAAAAAAAATAA	0.396													A	58207029	-	A	58207028	7	5	4	1	0	1	1	0	0	0	0	0	11148	127	5	0	351	0	OR5B12	11	58207028	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	637439	58207028	76799488	2636	4701											
OR10V1	390201	broad.mit.edu	37	chr11	59480487	59480487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagtgataaatgtgtaggCcacagataccacccggccca	12	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:59480487C>T	uc001nof.1	-	0	832	c.832G>A	c.(832-834)Gcc>Acc	p.A278T		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily V, member 1 (OR10V1), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						AATGTGTAGGCCACAGATACC	0.458													T	59480487	C	T	59480487	3	4	4	1	0	0	0	0	1	0	0	0	10920	739	26	2	101	2	OR10V1	11	59480487	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1273459	59480487	75526029	2637	4702											
GIF	2694	broad.mit.edu	37	chr11	59611434	59611434	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccggccagattcatggcaatCaggatgctggggtttgggta	15	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:59611434C>T	uc001noi.3	-	1	222	c.174G>A	c.(172-174)ctG>ctA	p.L58L	GIF_uc010rkz.1_Silent_p.L58L	NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	58					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						TCATGGCAATCAGGATGCTGG	0.542													T	59611434	C	T	59611434	2	4	4	1	0	0	0	0	0	0	0	1	6376	813	29	4		4	GIF	11	59611434	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	130947	59611434	75395082	2638	4703											
MS4A4A	51338	broad.mit.edu	37	chr11	60070111	60070111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcaacacatttagcttggCgttttattcattccatcacc	4	11	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:60070111C>T	uc001noz.3	+	4	602	c.467C>T	c.(466-468)gCg>gTg	p.A156V	MS4A4A_uc001npa.3_Missense_Mutation_p.A137V|MS4A4A_uc001npc.3_Intron	NM_148975	NP_076926	Q96JQ5	M4A4A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 4 (MS4A4A), transcript variant 1, mRNA.	156						integral to membrane	receptor activity	p.A156V(1)|p.A137V(1)|p.C155F(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						TTTAGCTTGGCGTTTTATTCA	0.403													T	60070111	C	T	60070111	3	4	4	1	0	0	0	0	1	0	0	0	9862	768	27	1	485	1	MS4A4A	11	60070111	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	458677	60070111	74936405	2639	4704											
MS4A8B	83661	broad.mit.edu	37	chr11	60470903	60470903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcctcggctccatcatggCgacggttctcgtaggggaat	14	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:60470903C>T	uc001npv.3	+	2	475	c.272C>T	c.(271-273)gCg>gTg	p.A91V	MS4A8B_uc009yne.1_Missense_Mutation_p.A91V	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA.	91						integral to membrane	receptor activity	p.A91A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TCCATCATGGCGACGGTTCTC	0.552													T	60470903	C	T	60470903	3	4	4	1	0	0	0	0	1	0	0	0	9867	768	27	1	278	1	MS4A8B	11	60470903	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	400792	60470903	74535613	2640	4705											
PRPF19	27339	broad.mit.edu	37	chr11	60666093	60666093	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggtggaactgtgcacaggTgagagctgtggaggagggaa	20	4	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:60666093T>C	uc001nqf.3	-	12	1267	c.1060A>G	c.(1060-1062)Acc>Gcc	p.T354A		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	Homo sapiens PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae) (PRPF19), mRNA.	354					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TGTGCACAGGTGAGAGCTGTG	0.532													C	60666093	T	C	60666093	3	2	4	1	0	0	0	0	1	0	0	0	12564	1696	59	3	470	3	PRPF19	11	60666093	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	195190	60666093	74340423	2641	4706											
PRPF19	27339	broad.mit.edu	37	chr11	60670217	60670217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggagaggctgcaccttctCgggcagcagtgacttccttg	15	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:60670217C>T	uc001nqf.3	-	3	590	c.383G>A	c.(382-384)cGa>cAa	p.R128Q		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	Homo sapiens PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae) (PRPF19), mRNA.	128					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TGCACCTTCTCGGGCAGCAGT	0.582													T	60670217	C	T	60670217	3	4	4	1	0	0	0	0	1	0	0	0	12564	884	31	1	1183	1	PRPF19	11	60670217	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4124	60670217	74336299	2642	4707											
CD6	923	broad.mit.edu	37	chr11	60785861	60785861	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggaggagcagtttggctgTccaggtgccaatatctgggg	16	8	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:60785861T>C	uc001nqq.3	+	11	2163	c.1938T>C	c.(1936-1938)tgT>tgC	p.C646C	CD6_uc001nqs.3_Intron|CD6_uc001nqr.3_Intron|CD6_uc001nqt.3_Intron	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	646					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						AGTTTGGCTGTCCAGGTGCCA	0.602													C	60785861	T	C	60785861	2	2	4	1	0	0	0	0	0	0	0	1	3028	1673	58	3		3	CD6	11	60785861	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	115644	60785861	74220655	2643	4708											
CD5	921	broad.mit.edu	37	chr11	60889151	60889151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaggcaccgtggaggtgCgccagggggctcagtgggca	20	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:60889151C>T	uc009ynk.3	+	5	977	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C		NM_014207	NP_055022	P06127	CD5_HUMAN	Homo sapiens CD5 molecule (CD5), mRNA.	292	SRCR 3.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CGTGGAGGTGCGCCAGGGGGC	0.657													T	60889151	C	T	60889151	3	4	4	1	0	0	0	0	1	0	0	0	3021	768	27	1	896	1	CD5	11	60889151	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	103290	60889151	74117365	2644	4709											
TMEM216	51259	broad.mit.edu	37	chr11	61165323	61165323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcccatctgccatgatgGcctcctattacctgctgctg	7	16	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:61165323G>A	uc021qkf.1	+	3	579	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	TMEM216_uc010rlj.2_Missense_Mutation_p.A103T|TMEM216_uc001nrn.2_Missense_Mutation_p.A42T	NM_001173991	NP_001167462	Q9P0N5	TM216_HUMAN	Homo sapiens transmembrane protein 216 (TMEM216), transcript variant 3, mRNA.	96						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TGCCATGATGGCCTCCTATTA	0.527													A	61165323	G	A	61165323	3	1	4	1	0	0	0	0	1	0	0	0	16136	1203	42	2	321	2	TMEM216	11	61165323	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	276172	61165323	73841193	2645	4710											
SYT7	9066	broad.mit.edu	37	chr11	61290689	61290689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcctcttcatcgtcaccGtcttcttcttctccacccgc	5	18	7	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:61290689G>A	uc001nrv.3	-	7	1017	c.965C>T	c.(964-966)aCg>aTg	p.T322M	SYT7_uc009ynr.3_Missense_Mutation_p.T397M	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	322	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CATCGTCACCGTCTTCTTCTT	0.557													A	61290689	G	A	61290689	3	1	4	1	0	0	0	0	1	0	0	0	15476	1145	40	1	254	1	SYT7	11	61290689	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	125366	61290689	73715827	2646	4711											
DAGLA	747	broad.mit.edu	37	chr11	61488161	61488161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgacaggtttgtgatcCtgtccgtggtgctcttcggc	13	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:61488161C>T	uc001nsa.3	+	2	222	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	36					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GTTTGTGATCCTGTCCGTGGT	0.637													T	61488161	C	T	61488161	2	4	4	1	0	0	0	0	0	0	0	1	4226	680	24	4		4	DAGLA	11	61488161	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	197472	61488161	73518355	2647	4712											
FADS1	3992	broad.mit.edu	37	chr11	61572224	61572224	+	Frame_Shift_Del	DEL	G	G	-													agtagagaggcagcaaggctGggggcccaactggggaggaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:61572224delG	uc010rlm.1	-	7	1114	c.986delC	c.(985-987)CCAfs	p.P329fs	FADS1_uc001nsh.2_Frame_Shift_Del_p.P188fs|FADS1_uc010rln.1_Frame_Shift_Del_p.P188fs	NM_013402	NP_037534	O60427	FADS1_HUMAN	fatty acid desaturase 1	272	Helical; (Potential).				cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)	1					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAGCAAGGCTGGGGGCCCAAC	0.527													-	61572224	G	-	61572224	7	5	4	1	0	1	0	1	0	0	0	0	5365	1348	47	0	543	0	FADS1	11	61572224	Frame_Shift_Del	DEL	G	TCGA-BR-4184-01A-01D-1126-08	84063	61572224	73434292	2648	4713											
FADS1	3992	broad.mit.edu	37	chr11	61580742	61580742	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgggctcaaagctgggctgCtctggagacagttctccaat	13	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:61580742C>G	uc010rlm.2	-	1	587	c.459G>C	c.(457-459)gaG>gaC	p.E153D	FADS2_uc001nsj.2_5'Flank|FADS1_uc001nsh.3_Missense_Mutation_p.E12D|FADS1_uc010rln.1_Missense_Mutation_p.E12D	NM_013402	NP_037534	O60427	FADS1_HUMAN	Homo sapiens fatty acid desaturase 1 (FADS1), mRNA.	96					cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGCTGGGCTGCTCTGGAGACA	0.517													G	61580742	C	G	61580742	3	3	4	1	0	0	0	0	1	0	0	0	5365	796	28	5	1090	5	FADS1	11	61580742	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	8518	61580742	73425774	2649	4714											
FADS2	9415	broad.mit.edu	37	chr11	61615676	61615676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgccacttccagcaccacGccaagcctaacatcttccac	4	19	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:61615676G>A	uc001nsl.1	+	4	814	c.664G>A	c.(664-666)Gcc>Acc	p.A222T	FADS2_uc001nsj.2_Missense_Mutation_p.A200T|FADS2_uc010rlo.1_Missense_Mutation_p.A191T|FADS2_uc001nsk.3_Missense_Mutation_p.A222T	NM_004265	NP_004256	O95864	FADS2_HUMAN	Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.	222					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CCAGCACCACGCCAAGCCTAA	0.582													A	61615676	G	A	61615676	3	1	4	1	0	0	0	0	1	0	0	0	5366	1087	38	1	682	1	FADS2	11	61615676	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	34934	61615676	73390840	2650	4715											
AHNAK	79026	broad.mit.edu	37	chr11	62288822	62288822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgatactgacatcagggGcatcaatgtccactttgggg	11	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:62288822G>A	uc001ntl.3	-	4	13367	c.13067C>T	c.(13066-13068)gCc>gTc	p.A4356V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4356					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GACATCAGGGGCATCAATGTC	0.488													A	62288822	G	A	62288822	3	1	4	1	0	0	0	0	1	0	0	0	414	1203	42	2	4725	2	AHNAK	11	62288822	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	673146	62288822	72717694	2651	4716											
AHNAK	79026	broad.mit.edu	37	chr11	62293096	62293096	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaacatcagggccttcaacGtccactttggggcctgagac	10	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:62293096G>A	uc001ntl.3	-	4	9093	c.8793C>T	c.(8791-8793)gaC>gaT	p.D2931D	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2931					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGCCTTCAACGTCCACTTTGG	0.517													A	62293096	G	A	62293096	2	1	4	1	0	0	0	0	0	0	0	1	414	1136	40	1		1	AHNAK	11	62293096	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4274	62293096	72713420	2652	4717											
AHNAK	79026	broad.mit.edu	37	chr11	62294104	62294104	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagagaaacatccacatcGcccttcaccttgggaccttt	8	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:62294104G>A	uc001ntl.3	-	4	8085	c.7785C>T	c.(7783-7785)ggC>ggT	p.G2595G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2595					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATCCACATCGCCCTTCACCT	0.502													A	62294104	G	A	62294104	2	1	4	1	0	0	0	0	0	0	0	1	414	1074	38	1		1	AHNAK	11	62294104	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1008	62294104	72712412	2653	4718											
AHNAK	79026	broad.mit.edu	37	chr11	62298466	62298466	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatccacttctgggccctcGcctttgaggctgggcatgct	11	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:62298466G>A	uc001ntl.3	-	4	3723	c.3423C>T	c.(3421-3423)ggC>ggT	p.G1141G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1141					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTGGGCCCTCGCCTTTGAGGC	0.532													A	62298466	G	A	62298466	2	1	4	1	0	0	0	0	0	0	0	1	414	1074	38	1		1	AHNAK	11	62298466	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4362	62298466	72708050	2654	4719											
EEF1G	1937	broad.mit.edu	37	chr11	62338497	62338497	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagccaatgtcactcgttcGcccaccagaaaagtcctcgt	7	15	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:62338497G>A	uc001ntm.1	-	4	608	c.462C>T	c.(460-462)ggC>ggT	p.G154G	EEF1G_uc010rlw.1_Silent_p.G204G	NM_001404	NP_001395	P26641	EF1G_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 gamma (EEF1G), mRNA.	154	GST C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCACTCGTTCGCCCACCAGAA	0.488													A	62338497	G	A	62338497	2	1	4	1	0	0	0	0	0	0	0	1	4928	1074	38	1		1	EEF1G	11	62338497	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	40031	62338497	72668019	2655	4720											
MTA2	9219	broad.mit.edu	37	chr11	62365601	62365601	+	Frame_Shift_Del	DEL	A	A	-													ggggtcaaacaccagtgagtAaaaaaagcagtcctggaatt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:62365600_62365600TA>T	uc001ntq.2	-	5	776	c.386_386TA>A	c.(385-387)tacfs	p.Y129fs	MTA2_uc010rlx.1_5'UTR	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	129	BAH.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CACCAGTGAGTAAAAAAAGCA	0.517													-	62365601	A	-	62365601	7	5	4	1	0	1	0	1	0	0	0	0	9909	362	13	0	1673	0	MTA2	11	62365601	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	27104	62365601	72640915	2656	4721											
GANAB	23193	broad.mit.edu	37	chr11	62400959	62400959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaggctgggccccatcGccctcagctgggtcttttga	11	15	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:62400959G>A	uc001nua.3	-	6	687	c.654C>T	c.(652-654)ggC>ggT	p.G218G	GANAB_uc001nub.3_Silent_p.G196G|GANAB_uc001nuc.3_Silent_p.G99G|GANAB_uc010rma.2_Silent_p.G104G|GANAB_uc010rmb.2_Silent_p.G82G	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	196					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GGGCCCCATCGCCCTCAGCTG	0.637													A	62400959	G	A	62400959	2	1	4	1	0	0	0	0	0	0	0	1	6233	1074	38	1		1	GANAB	11	62400959	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	35358	62400959	72605557	2657	4722											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62483025	62483025	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgttgtactcataatctcGcccgtaaaatcgatcatagt	6	10	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:62483025G>A	uc001nuw.3	-	12	2339	c.2110C>T	c.(2110-2112)Cga>Tga	p.R704*	HNRNPUL2_uc001nuu.2_Non-coding_Transcript	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.	704	Tyr-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCATAATCTCGCCCGTAAAAT	0.433													A	62483025	G	A	62483025	4	1	4	1	0	0	0	0	0	1	0	0	7275	1095	38	1	141	1	HNRNPUL2	11	62483025	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	82066	62483025	72523491	2658	4723											
WDR74	54663	broad.mit.edu	37	chr11	62601368	62601368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtggcactgcaacccacGcacactgcctgccagcccct	10	18	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:62601368G>A	uc001nvm.2	-	9	985	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	STX5_uc001nvh.3_5'Flank|STX5_uc010rmj.2_5'Flank|STX5_uc010rmi.2_5'Flank|WDR74_uc001nvl.2_Missense_Mutation_p.R273C|WDR74_uc009yoi.2_Missense_Mutation_p.R273C	NM_018093	NP_060563	Q6RFH5	WDR74_HUMAN	Homo sapiens WD repeat domain 74 (WDR74), mRNA.	273						nucleolus				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						TGCAACCCACGCACACTGCCT	0.562													A	62601368	G	A	62601368	3	1	4	1	0	0	0	0	1	0	0	0	17321	1087	38	1	352	1	WDR74	11	62601368	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	118343	62601368	72405148	2659	4724											
SLC22A8	9376	broad.mit.edu	37	chr11	62766535	62766535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtcgacatgatggcccGcatccgggtaggcacccatt	12	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:62766535G>A	uc009yon.3	-	4	740	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	SLC22A8_uc001nwn.1_5'UTR|SLC22A8_uc009yom.3_Missense_Mutation_p.R84W|SLC22A8_uc001nwo.3_Missense_Mutation_p.R207W|SLC22A8_uc010rmm.2_Missense_Mutation_p.R116W|SLC22A8_uc001nwp.2_Missense_Mutation_p.R207W	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	207					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						ATGATGGCCCGCATCCGGGTA	0.612													A	62766535	G	A	62766535	3	1	4	1	0	0	0	0	1	0	0	0	14460	1086	38	1	1037	1	SLC22A8	11	62766535	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	165167	62766535	72239981	2660	4725											
SLC22A10	387775	broad.mit.edu	37	chr11	63057764	63057764	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctagagaactttgctgcaGccattcctggtcatcgttgc	10	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:63057764G>T	uc009yor.3	+	0	335	c.127G>T	c.(127-129)Gcc>Tcc	p.A43S	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_5'UTR	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	43						integral to membrane	transmembrane transporter activity	p.A42S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTTGCTGCAGCCATTCCTGG	0.443													T	63057764	G	T	63057764	3	4	4	1	0	0	0	0	1	0	0	0	14441	971	34	5	129	5	SLC22A10	11	63057764	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	291229	63057764	71948752	2661	4726											
RCOR2	283248	broad.mit.edu	37	chr11	63682282	63682282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttatgccacagaagcatgcCcagcgcctggcccggggcaa	12	15	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:63682282C>T	uc001nyc.3	-	4	713	c.325G>A	c.(325-327)Ggc>Agc	p.G109S		NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN	Homo sapiens REST corepressor 2 (RCOR2), mRNA.	109	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						AGAAGCATGCCCAGCGCCTGG	0.637													T	63682282	C	T	63682282	3	4	4	1	0	0	0	0	1	0	0	0	13183	623	22	4	1278	4	RCOR2	11	63682282	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	624518	63682282	71324234	2662	4727											
PLCB3	5331	broad.mit.edu	37	chr11	64023268	64023268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaagctgtgtctgcggccgGacattgacaagatcctgctg	12	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:64023268G>A	uc009ypi.3	+	7	800	c.673G>A	c.(673-675)Gac>Aac	p.D225N	PLCB3_uc009ypg.2_Missense_Mutation_p.D225N|PLCB3_uc009yph.2_Missense_Mutation_p.D158N	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	225					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TCTGCGGCCGGACATTGACAA	0.557													A	64023268	G	A	64023268	3	1	4	1	0	0	0	0	1	0	0	0	12029	1174	41	4	703	4	PLCB3	11	64023268	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	340986	64023268	70983248	2663	4728											
NRXN2	9379	broad.mit.edu	37	chr11	64434955	64434955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccattgggctcggtggtgCggaagtctagggagatggag	19	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:64434955C>T	uc021qkw.1	-	8	2027	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	NRXN2_uc021qkx.1_Missense_Mutation_p.R491H|NRXN2_uc001oas.3_Missense_Mutation_p.R491H|NRXN2_uc001oaq.3_Missense_Mutation_p.R189H	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	522	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTCGGTGGTGCGGAAGTCTAG	0.677													T	64434955	C	T	64434955	3	4	4	1	0	0	0	0	1	0	0	0	10666	768	27	1	3902	1	NRXN2	11	64434955	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	411687	64434955	70571561	2664	4729											
PYGM	5837	broad.mit.edu	37	chr11	64522963	64522963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccttggcagaccagaggCgcatggtgttgacaacattg	14	9	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:64522963C>T	uc001oax.4	-	5	1545	c.728G>A	c.(727-729)cGc>cAc	p.R243H	PYGM_uc001oay.4_Missense_Mutation_p.R155H	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	243					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AGACCAGAGGCGCATGGTGTT	0.617													T	64522963	C	T	64522963	3	4	4	1	0	0	0	0	1	0	0	0	12862	768	27	1	1860	1	PYGM	11	64522963	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	88008	64522963	70483553	2665	4730											
SNX15	29907	broad.mit.edu	37	chr11	64802341	64802341	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggtttgaagcctcagtgatCgaggagcggcgaaagggggc	18	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:64802341C>T	uc001oci.4	+	6	933	c.279C>T	c.(277-279)atC>atT	p.I93I	SNX15_uc001ock.3_Silent_p.I93I	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	Homo sapiens sorting nexin 15 (SNX15), transcript variant A, mRNA.	93	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CCTCAGTGATCGAGGAGCGGC	0.617													T	64802341	C	T	64802341	2	4	4	1	0	0	0	0	0	0	0	1	14886	874	31	1		1	SNX15	11	64802341	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	279378	64802341	70204175	2666	4731											
C11orf2	738	broad.mit.edu	37	chr11	64876893	64876893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgctcctgctgctctccCgcctctgcctggactacgag	9	19	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:64876893C>T	uc001ocr.1	+	5	1625	c.1585C>T	c.(1585-1587)Cgc>Tgc	p.R529C	TM7SF2_uc001oct.3_5'Flank|TM7SF2_uc010rny.2_5'Flank|TM7SF2_uc001ocu.3_5'Flank|TM7SF2_uc001ocv.3_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.R405C	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	529					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						GCTGCTCTCCCGCCTCTGCCT	0.617													T	64876893	C	T	64876893	3	4	4	1	0	0	0	0	1	0	0	0	1633	652	23	1	1607	1	C11orf2	11	64876893	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	74552	64876893	70129623	2667	4732											
LTBP3	4054	broad.mit.edu	37	chr11	65325188	65325188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccctgctgacaactgtcCcgacactggcccttgagaca	10	15	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:65325188C>T	uc001oej.3	-	0	512	c.243G>A	c.(241-243)cgG>cgA	p.R81R	LTBP3_uc010roi.2_5'UTR|LTBP3_uc001oei.3_Silent_p.R81R|LTBP3_uc010roj.2_Silent_p.R67R|LTBP3_uc010rok.1_Intron	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	81	Gly-rich.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GACAACTGTCCCGACACTGGC	0.692													T	65325188	C	T	65325188	2	4	4	1	0	0	0	0	0	0	0	1	9075	610	22	4		4	LTBP3	11	65325188	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	448295	65325188	69681328	2668	4733											
KAT5	10524	broad.mit.edu	37	chr11	65486194	65486194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggggctgaagtcggagagCggggagaggccacagatcac	18	8	1	4	rs114460328	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:65486194C>T	uc001ofi.3	+	11	1565	c.1299C>T	c.(1297-1299)agC>agT	p.S433S	KAT5_uc001ofj.3_Silent_p.S381S|KAT5_uc001ofk.3_Silent_p.S466S|KAT5_uc010roo.2_Silent_p.S414S|KAT5_uc001ofl.3_Silent_p.S222S|RNASEH2C_uc001ofm.3_Non-coding_Transcript|RNASEH2C_uc001ofn.3_3'UTR	NM_006388	NP_006379	Q92993	KAT5_HUMAN	Homo sapiens K(lysine) acetyltransferase 5 (KAT5), transcript variant 2, mRNA.	433					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|androgen receptor signaling pathway|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						AGTCGGAGAGCGGGGAGAGGC	0.597													T	65486194	C	T	65486194	2	4	4	1	0	0	0	0	0	0	0	1	7983	767	27	1		1	KAT5	11	65486194	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	161006	65486194	69520322	2669	4734											
MUS81	80198	broad.mit.edu	37	chr11	65633355	65633355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcaccattaagtgtgggCgtctacagaggtgagggcaa	15	7	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:65633355C>T	uc001ofv.4	+	14	1932	c.1579C>T	c.(1579-1581)Cgt>Tgt	p.R527C	MUS81_uc001ofx.4_Missense_Mutation_p.R84C	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	Homo sapiens MUS81 endonuclease homolog (S. cerevisiae) (MUS81), mRNA.	527					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	p.G526W(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		TAAGTGTGGGCGTCTACAGAG	0.627								Homologous recombination					T	65633355	C	T	65633355	3	4	4	1	0	0	0	0	1	0	0	0	9988	768	27	1	1637	1	MUS81	11	65633355	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	147161	65633355	69373161	2670	4735											
SART1	9092	broad.mit.edu	37	chr11	65743960	65743960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccatcgtgttcaacgccaCgtccgagttctgccgcacct	10	16	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:65743960C>T	uc001ogl.3	+	12	1759	c.1667C>T	c.(1666-1668)aCg>aTg	p.T556M		NM_005146	NP_005137	O43290	SNUT1_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA.	556					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTCAACGCCACGTCCGAGTTC	0.672													T	65743960	C	T	65743960	3	4	4	1	0	0	0	0	1	0	0	0	13846	536	19	1	1717	1	SART1	11	65743960	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	110605	65743960	69262556	2671	4736											
KLC2	64837	broad.mit.edu	37	chr11	66033585	66033585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcagtggctccttgaggCgcagcggttcctttgggaaa	15	9	0	1	rs139049979	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66033585C>T	uc010rov.1	+	13	1867	c.1624C>T	c.(1624-1626)Cgc>Tgc	p.R542C	KLC2_uc010row.1_Missense_Mutation_p.R542C|KLC2_uc001ohb.2_Missense_Mutation_p.R542C|KLC2_uc010rox.1_Missense_Mutation_p.R465C|KLC2_uc001ohc.2_Missense_Mutation_p.R542C|KLC2_uc001ohd.2_Missense_Mutation_p.R465C|KLC2_uc001ohe.1_Missense_Mutation_p.R403C|RAB1B_uc001ohf.3_5'Flank	NM_001134775	NP_073733	Q9H0B6	KLC2_HUMAN	Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.	542					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	p.R541M(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CTCCTTGAGGCGCAGCGGTTC	0.682													T	66033585	C	T	66033585	3	4	4	1	0	0	0	0	1	0	0	0	8334	768	27	1	1674	1	KLC2	11	66033585	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	289625	66033585	68972931	2672	4737											
RAB1B	81876	broad.mit.edu	37	chr11	66039888	66039888	+	Frame_Shift_Del	DEL	G	G	-													catcacttccagctactaccGgggggctcatggcatcatcg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66039887_66039887CG>C	uc001ohf.3	+	3	330	c.235_235CG>C	c.(235-237)cggfs	p.R79fs	AK125412_uc001ohg.1_Non-coding_Transcript	NM_030981	NP_112243	Q9H0U4	RAB1B_HUMAN	Homo sapiens RAB1B, member RAS oncogene family (RAB1B), mRNA.	79	Switch 2 region; required for interaction with REP1/CHM.				protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CAGCTACTACCGGGGGGCTCA	0.582													-	66039888	G	-	66039888	7	5	4	1	0	1	0	1	0	0	0	0	12906	1116	39	0	250	0	RAB1B	11	66039888	Frame_Shift_Del	DEL	G	TCGA-BR-4184-01A-01D-1126-08	6303	66039888	68966628	2673	4738											
TMEM151A	256472	broad.mit.edu	37	chr11	66061810	66061810	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcggcccctgaaacaGtccctgggaagctccctgtg	12	15	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66061810G>A	uc001ohl.3	+	1	205	c.93G>A	c.(91-93)caG>caA	p.Q31Q		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	Homo sapiens transmembrane protein 151A (TMEM151A), mRNA.	31						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						CCCTGAAACAGTCCCTGGGAA	0.657													A	66061810	G	A	66061810	2	1	4	1	0	0	0	0	0	0	0	1	16067	1020	36	4		4	TMEM151A	11	66061810	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	21922	66061810	68944706	2674	4739											
TMEM151A	256472	broad.mit.edu	37	chr11	66061905	66061905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgtggtggcctggtgtcGcctggccacagtgccgcggc	18	14	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66061905G>A	uc001ohl.3	+	1	300	c.188G>A	c.(187-189)cGc>cAc	p.R63H		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	Homo sapiens transmembrane protein 151A (TMEM151A), mRNA.	63						integral to membrane		p.R63C(1)		central_nervous_system(1)|kidney(4)|lung(6)	11						GCCTGGTGTCGCCTGGCCACA	0.736													A	66061905	G	A	66061905	3	1	4	1	0	0	0	0	1	0	0	0	16067	1087	38	1	194	1	TMEM151A	11	66061905	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	95	66061905	68944611	2675	4740											
CD248	57124	broad.mit.edu	37	chr11	66083274	66083274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaagctcggtctataggCcagggcaaagtcaggcggct	16	9	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66083274C>T	uc001ohm.1	-	0	1242	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	409	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GGTCTATAGGCCAGGGCAAAG	0.642													T	66083274	C	T	66083274	3	4	4	1	0	0	0	0	1	0	0	0	2989	739	26	2	1052	2	CD248	11	66083274	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	21369	66083274	68923242	2676	4741											
PELI3	246330	broad.mit.edu	37	chr11	66235677	66235677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggggaacaagggctcttgCgttctctcctctcccggtga	13	13	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66235677C>T	uc001oic.4	+	1	242	c.78C>T	c.(76-78)tgC>tgT	p.C26C	PELI3_uc021qlx.1_Silent_p.C26C|PELI3_uc001oib.2_Silent_p.C26C|PELI3_uc001oid.4_Silent_p.C26C|PELI3_uc021qly.1_Intron	NM_145065	NP_001230065	Q8N2H9	PELI3_HUMAN	Homo sapiens pellino homolog 3 (Drosophila) (PELI3), transcript variant 1, mRNA.	26						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						AGGGCTCTTGCGTTCTCTCCT	0.602													T	66235677	C	T	66235677	2	4	4	1	0	0	0	0	0	0	0	1	11723	776	27	1		1	PELI3	11	66235677	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	152403	66235677	68770839	2677	4742											
ACTN3	89	broad.mit.edu	37	chr11	66330622	66330622	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggctggagccctggactaCgtggccttctccagtgccct	12	16	1	0	rs79516407	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66330622C>T	uc021qma.1	+	10	1431	c.918C>T	c.(916-918)taC>taT	p.Y306Y	ACTN3_uc021qlz.1_Non-coding_Transcript			Q08043	ACTN3_HUMAN	Homo sapiens actinin, alpha 3 (ACTN3), mRNA.	888					focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CCCTGGACTACGTGGCCTTCT	0.632													T	66330622	C	T	66330622	2	4	4	1	0	0	0	0	0	0	0	1	206	547	19	1		1	ACTN3	11	66330622	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	94945	66330622	68675894	2678	4743											
RBM14	10432	broad.mit.edu	37	chr11	66411175	66411175	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcgctcgatgcctactacAagcgctgccgtgctgcccgg	13	15	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66411175A>G	uc009yrj.3	+	2	1155	c.667A>G	c.(667-669)Aag>Gag	p.K223E	RBM14_uc009yrk.3_Missense_Mutation_p.K198E|RBM14_uc021qmb.1_Intron|RBM14_uc001oiw.2_Missense_Mutation_p.K223E|RBM14_uc001oix.2_Intron|RBM14_uc010rpj.2_Intron|RBM14_uc001oiz.2_Missense_Mutation_p.K223E	NM_002896	NP_002887	Q96PK6	RBM14_HUMAN	Homo sapiens RNA binding motif protein 4 (RBM4), transcript variant 1, mRNA.	418					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	RNA binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TGCCTACTACAAGCGCTGCCG	0.547													G	66411175	A	G	66411175	3	3	4	1	0	0	0	0	1	0	0	0	13115	131	5	3		3	RBM14	11	66411175	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	80553	66411175	68595341	2679	4744											
SPTBN2	6712	broad.mit.edu	37	chr11	66456223	66456223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctctcaacttcgtcgacCgtgcaacccagctcagcgct	9	16	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66456223C>T	uc001ojd.3	-	29	6204	c.6132G>A	c.(6130-6132)acG>acA	p.T2044T	SPTBN2_uc001ojc.1_5'Flank	NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	2044					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTTCGTCGACCGTGCAACCCA	0.607													T	66456223	C	T	66456223	2	4	4	1	0	0	0	0	0	0	0	1	15119	639	23	1		1	SPTBN2	11	66456223	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	45048	66456223	68550293	2680	4745											
SPTBN2	6712	broad.mit.edu	37	chr11	66461764	66461764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaccctggtcctcctggGccagtgctttggcctgggcc	13	16	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66461764G>A	uc001ojd.3	-	20	4421	c.4349C>T	c.(4348-4350)gCc>gTc	p.A1450V		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1450					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTCCTCCTGGGCCAGTGCTTT	0.632											OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	66461764	G	A	66461764	3	1	4	1	0	0	0	0	1	0	0	0	15119	1203	42	2	2891	2	SPTBN2	11	66461764	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5541	66461764	68544752	2681	4746											
SPTBN2	6712	broad.mit.edu	37	chr11	66475077	66475077	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagccgctcccgccgggcGgccaccatctgccgcaagaa	13	17	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66475077G>A	uc001ojd.3	-	11	1635	c.1563C>T	c.(1561-1563)gcC>gcT	p.A521A		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	521					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCGCCGGGCGGCCACCATCT	0.637													A	66475077	G	A	66475077	2	1	4	1	0	0	0	0	0	0	0	1	15119	1103	39	1		1	SPTBN2	11	66475077	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	13313	66475077	68531439	2682	4747											
SPTBN2	6712	broad.mit.edu	37	chr11	66475138	66475138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctgccgagcggcgatgCgcttgatgtcgtggtagcgc	17	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66475138C>T	uc001ojd.3	-	11	1574	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	501					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						AGCGGCGATGCGCTTGATGTC	0.687													T	66475138	C	T	66475138	3	4	4	1	0	0	0	0	1	0	0	0	15119	768	27	1	5774	1	SPTBN2	11	66475138	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	61	66475138	68531378	2683	4748											
LRFN4	78999	broad.mit.edu	37	chr11	66626561	66626561	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaagatgagaccctcatctAccggtgaggatgcgtgcccc	12	13	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66626561A>G	uc001ojr.3	+	0	1686	c.1346A>G	c.(1345-1347)tAc>tGc	p.Y449C	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 4 (LRFN4), mRNA.	449	Fibronectin type-III.					integral to membrane				breast(1)|lung(1)|prostate(1)	3						ACCCTCATCTACCGGTGAGGA	0.657													G	66626561	A	G	66626561	3	3	4	1	0	0	0	0	1	0	0	0	8940	391	14	3	1348	3	LRFN4	11	66626561	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	151423	66626561	68379955	2684	4749											
ADRBK1	156	broad.mit.edu	37	chr11	67047125	67047125	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagagtgccactgagcatgTccaaggccacctggggaaga	14	10	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:67047125T>C	uc009yrn.1	+	4	661	c.395T>C	c.(394-396)gTc>gCc	p.V132A		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	132	N-terminal.|RGS.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	ACTGAGCATGTCCAAGGCCAC	0.612													C	67047125	T	C	67047125	3	2	4	1	0	0	0	0	1	0	0	0	343	1667	58	3	413	3	ADRBK1	11	67047125	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	420564	67047125	67959391	2685	4750											
ADRBK1	156	broad.mit.edu	37	chr11	67052656	67052656	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacagttcattttgcagtgCgatgtgagtgggggctgagc	15	6	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:67052656C>T	uc009yrn.1	+	19	2168	c.1902C>T	c.(1900-1902)tgC>tgT	p.C634C		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	634	PH.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TTTTGCAGTGCGATGTGAGTG	0.632													T	67052656	C	T	67052656	2	4	4	1	0	0	0	0	0	0	0	1	343	776	27	1		1	ADRBK1	11	67052656	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	5531	67052656	67953860	2686	4751											
SSH3	54961	broad.mit.edu	37	chr11	67077278	67077278	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtccactgcaagatgggCgtcagccgctcagcggccac	13	15	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:67077278C>T	uc001okj.3	+	11	1426	c.1248C>T	c.(1246-1248)ggC>ggT	p.G416G	SSH3_uc001okk.3_Non-coding_Transcript|SSH3_uc001okl.3_Silent_p.G270G	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA.	416	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCAAGATGGGCGTCAGCCGCT	0.657													T	67077278	C	T	67077278	2	4	4	1	0	0	0	0	0	0	0	1	15185	755	27	1		1	SSH3	11	67077278	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	24622	67077278	67929238	2687	4752											
GSTP1	2950	broad.mit.edu	37	chr11	67352167	67352167	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaacagctatacgggcaGctccccaagttccaggacgg	10	16	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:67352167G>A	uc001omf.3	+	3	405	c.156G>A	c.(154-156)caG>caA	p.Q52Q		NM_000852	NP_000843	P09211	GSTP1_HUMAN	Homo sapiens glutathione S-transferase pi 1 (GSTP1), mRNA.	52	GST N-terminal.|Glutathione binding.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of JUN kinase activity|negative regulation of acute inflammatory response|negative regulation of fibroblast proliferation|negative regulation of interleukin-1 beta production|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	JUN kinase binding|S-nitrosoglutathione binding|dinitrosyl-iron complex binding|glutathione transferase activity|kinase regulator activity|nitric oxide binding			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Ethacrynic acid(DB00903)|Glutathione(DB00143)	TATACGGGCAGCTCCCCAAGT	0.632													A	67352167	G	A	67352167	2	1	4	1	0	0	0	0	0	0	0	1	6844	962	34	2		2	GSTP1	11	67352167	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	274889	67352167	67654349	2688	4753											
ALDH3B2	222	broad.mit.edu	37	chr11	67432886	67432886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggagctctgggggtcgtcGccatagaaacgggtgatggt	19	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:67432886G>A	uc001omr.3	-	6	1015	c.576C>T	c.(574-576)ggC>ggT	p.G192G	ALDH3B2_uc001oms.3_Silent_p.G192G|ALDH3B2_uc009ysa.1_Silent_p.G192G	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	192					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	GGGGGTCGTCGCCATAGAAAC	0.662													A	67432886	G	A	67432886	2	1	4	1	0	0	0	0	0	0	0	1	500	1074	38	1		1	ALDH3B2	11	67432886	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	80719	67432886	67573630	2689	4754											
TCIRG1	10312	broad.mit.edu	37	chr11	67816417	67816417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatgtccgtcatcctgggCgtcgtgcacatggcctttgg	13	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:67816417C>T	uc001one.3	+	13	1755	c.1626C>T	c.(1624-1626)ggC>ggT	p.G542G	TCIRG1_uc001ong.3_Silent_p.G326G|TCIRG1_uc009ysd.3_5'Flank	NM_006019	NP_006044	Q13488	VPP3_HUMAN	Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA.	542					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TCATCCTGGGCGTCGTGCACA	0.632													T	67816417	C	T	67816417	2	4	4	1	0	0	0	0	0	0	0	1	15700	755	27	1		1	TCIRG1	11	67816417	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	383531	67816417	67190099	2690	4755											
SUV420H1	51111	broad.mit.edu	37	chr11	67957392	67957392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtgtacatacatctgttcGacctcctctcgactgcattt	7	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:67957392G>A	uc001onm.1	-	1	408	c.152C>T	c.(151-153)tCg>tTg	p.S51L	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_5'UTR|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Missense_Mutation_p.S51L|SUV420H1_uc010rqa.1_Missense_Mutation_p.S51L	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ACATCTGTTCGACCTCCTCTC	0.413													A	67957392	G	A	67957392	3	1	4	1	0	0	0	0	1	0	0	0	15411	1059	37	1	2553	1	SUV420H1	11	67957392	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	140975	67957392	67049124	2691	4756											
C11orf24	53838	broad.mit.edu	37	chr11	68029864	68029864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttgctgttcttggcaacGcgctgctctttggcacttgt	13	10	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:68029864G>A	uc001onr.4	-	3	1041	c.599C>T	c.(598-600)gCg>gTg	p.A200V		NM_022338	NP_071733	Q96F05	CK024_HUMAN	Homo sapiens chromosome 11 open reading frame 24 (C11orf24), mRNA.	200						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						TCTTGGCAACGCGCTGCTCTT	0.622													A	68029864	G	A	68029864	3	1	4	1	0	0	0	0	1	0	0	0	1635	1087	38	1	754	1	C11orf24	11	68029864	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	72472	68029864	66976652	2692	4757											
PPFIA1	8500	broad.mit.edu	37	chr11	70118424	70118424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctagaagaaagggaccGccttcttgatacactgagag	11	9	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:70118424G>A	uc001opo.3	+	1	361	c.146G>A	c.(145-147)cGc>cAc	p.R49H	PPFIA1_uc001opn.2_Missense_Mutation_p.R49H|PPFIA1_uc001opp.3_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	49					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GAAAGGGACCGCCTTCTTGAT	0.517													A	70118424	G	A	70118424	3	1	4	1	0	0	0	0	1	0	0	0	12309	1087	38	1	148	1	PPFIA1	11	70118424	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2088560	70118424	64888092	2693	4758											
SHANK2	22941	broad.mit.edu	37	chr11	70332069	70332069	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggggactgaggggtgtcGcttttcttctgcttcactaa	13	8	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:70332069G>A	uc001oqc.3	-	20	4243	c.4131C>T	c.(4129-4131)agC>agT	p.S1377S	SHANK2_uc010rqn.2_Silent_p.S853S|SHANK2_uc001opz.3_Silent_p.S848S|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1064					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGGGGTGTCGCTTTTCTTCT	0.527													A	70332069	G	A	70332069	2	1	4	1	0	0	0	0	0	0	0	1	14265	1078	38	1		1	SHANK2	11	70332069	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	213645	70332069	64674447	2694	4759											
DHCR7	1717	broad.mit.edu	37	chr11	71150017	71150017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggttgatgagggtccaggCgacgatcccggggcgcccat	16	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:71150017C>T	uc001oqk.3	-	6	989	c.739G>A	c.(739-741)Gcc>Acc	p.A247T	DHCR7_uc001oql.3_Missense_Mutation_p.A247T	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	247			A -> V (in SLOS).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	p.A247P(3)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	AGGGTCCAGGCGACGATCCCG	0.552									Smith-Lemli-Opitz syndrome				T	71150017	C	T	71150017	3	4	4	1	0	0	0	0	1	0	0	0	4477	768	27	1	700	1	DHCR7	11	71150017	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	817948	71150017	63856499	2695	4760											
NUMA1	4926	broad.mit.edu	37	chr11	71725378	71725378	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtccttgccttccttttcCgtcagggcatgagccagtgc	11	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:71725378C>T	uc001orl.1	-	14	3343	c.3171G>A	c.(3169-3171)acG>acA	p.T1057T	NUMA1_uc009ysw.1_Silent_p.T620T|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.T1057T|NUMA1_uc001orn.2_Silent_p.T620T|NUMA1_uc009ysx.1_Silent_p.T1057T|NUMA1_uc001oro.1_Silent_p.T1057T	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1057					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTTCCTTTTCCGTCAGGGCAT	0.587			T	RARA	APL								T	71725378	C	T	71725378	2	4	4	1	0	0	0	0	0	0	0	1	10750	639	23	1		1	NUMA1	11	71725378	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	575361	71725378	63281138	2696	4761											
NUMA1	4926	broad.mit.edu	37	chr11	71725779	71725779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctcacctgccttgcGcaccaaggtctccaagcggg	11	16	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:71725779G>A	uc001orl.1	-	14	2942	c.2770C>T	c.(2770-2772)Cgc>Tgc	p.R924C	NUMA1_uc009ysw.1_Missense_Mutation_p.R487C|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.R924C|NUMA1_uc001orn.2_Missense_Mutation_p.R487C|NUMA1_uc009ysx.1_Missense_Mutation_p.R924C|NUMA1_uc001oro.1_Missense_Mutation_p.R924C	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	924					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	p.R924H(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCTGCCTTGCGCACCAAGGTC	0.607			T	RARA	APL								A	71725779	G	A	71725779	3	1	4	1	0	0	0	0	1	0	0	0	10750	1087	38	1	3629	1	NUMA1	11	71725779	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	401	71725779	63280737	2697	4762											
FOLR3	2352	broad.mit.edu	37	chr11	71850830	71850830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccaagttctatgctgcGgccatgaatgctggggcccc	14	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:71850830G>A	uc001ory.1	+	4	869	c.819G>A	c.(817-819)gcG>gcA	p.A273A	FOLR3_uc001orx.1_Silent_p.A230A			P41439	FOLR3_HUMAN	Homo sapiens folate receptor 3 (gamma) (FOLR3), mRNA.	229					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	TCTATGCTGCGGCCATGAATG	0.537													A	71850830	G	A	71850830	2	1	4	1	0	0	0	0	0	0	0	1	5983	1103	39	1		1	FOLR3	11	71850830	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	125051	71850830	63155686	2698	4763											
INPPL1	3636	broad.mit.edu	37	chr11	71939260	71939260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcatgtgcacacgtatcGcattctgcctgatggagaag	12	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:71939260G>A	uc001osf.3	+	1	356	c.209G>A	c.(208-210)cGc>cAc	p.R70H	INPPL1_uc001osg.3_5'UTR	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	70	SH2.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CACACGTATCGCATTCTGCCT	0.587													A	71939260	G	A	71939260	3	1	4	1	0	0	0	0	1	0	0	0	7761	1087	38	1	215	1	INPPL1	11	71939260	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	88430	71939260	63067256	2699	4764											
PDE2A	5138	broad.mit.edu	37	chr11	72295250	72295250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaccccgccctcacatgggCgatgctgatgccgcagtaga	11	15	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:72295250C>T	uc010rrc.2	-	18	1891	c.1645G>A	c.(1645-1647)Gcc>Acc	p.A549T	PDE2A_uc001oso.3_Missense_Mutation_p.A528T|PDE2A_uc010rra.2_Missense_Mutation_p.A542T|PDE2A_uc001osn.3_Missense_Mutation_p.A293T|PDE2A_uc010rrb.2_Missense_Mutation_p.A540T|PDE2A_uc010rrd.2_Missense_Mutation_p.A434T	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	549					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CTCACATGGGCGATGCTGATG	0.632													T	72295250	C	T	72295250	3	4	4	1	0	0	0	0	1	0	0	0	11636	768	27	1	1232	1	PDE2A	11	72295250	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	355990	72295250	62711266	2700	4765											
ARAP1	116985	broad.mit.edu	37	chr11	72420943	72420943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggtagggcgtggtgaggtCgaagctgcgccggtccactt	18	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:72420943C>T	uc001osu.3	-	10	1684	c.1495G>A	c.(1495-1497)Gac>Aac	p.D499N	ARAP1_uc001osv.3_Missense_Mutation_p.D499N|ARAP1_uc001osr.3_Missense_Mutation_p.D259N|ARAP1_uc001oss.3_Missense_Mutation_p.D254N|ARAP1_uc009yth.3_Missense_Mutation_p.D254N|ARAP1_uc010rre.2_Missense_Mutation_p.D254N	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	499	PH 2.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GTGGTGAGGTCGAAGCTGCGC	0.587													T	72420943	C	T	72420943	3	4	4	1	0	0	0	0	1	0	0	0	838	884	31	1	2957	1	ARAP1	11	72420943	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	125693	72420943	62585573	2701	4766											
P2RY2	5029	broad.mit.edu	37	chr11	72945327	72945327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcctgtgtcctacggCgtggtgtgcgtgcctgggct	16	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:72945327C>T	uc021qna.1	+	0	123	c.123C>T	c.(121-123)ggC>ggT	p.G41G	P2RY2_uc001otk.3_Silent_p.G41G|P2RY2_uc001otj.3_Silent_p.G41G|P2RY2_uc001otl.3_Silent_p.G41G	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	41					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TGTCCTACGGCGTGGTGTGCG	0.582													T	72945327	C	T	72945327	2	4	4	1	0	0	0	0	0	0	0	1	11352	755	27	1		1	P2RY2	11	72945327	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	524384	72945327	62061189	2702	4767											
ARHGEF17	9828	broad.mit.edu	37	chr11	73070963	73070963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaccctgggccaaatgaGcaagctctctgagagccttg	10	14	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:73070963G>A	uc001otu.3	+	9	4193	c.4172G>A	c.(4171-4173)aGc>aAc	p.S1391N		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1391					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGCCAAATGAGCAAGCTCTCT	0.602													A	73070963	G	A	73070963	3	1	4	1	0	0	0	0	1	0	0	0	900	971	34	2	4210	2	ARHGEF17	11	73070963	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	125636	73070963	61935553	2703	4768											
XRRA1	143570	broad.mit.edu	37	chr11	74563096	74563096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagagagatgggaagagaGctactggtaggacagcatcc	15	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:74563096G>A	uc009yub.3	-	12	1510	c.1178C>T	c.(1177-1179)gCt>gTt	p.A393V	XRRA1_uc001ovm.2_Non-coding_Transcript|XRRA1_uc001ovn.3_Missense_Mutation_p.A16V|XRRA1_uc001ovo.3_Missense_Mutation_p.A16V|XRRA1_uc001ovp.4_Missense_Mutation_p.A118V|XRRA1_uc001ovq.4_Intron|XRRA1_uc001ovr.2_Missense_Mutation_p.A16V|XRRA1_uc001ovs.1_Intron	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	Homo sapiens X-ray radiation resistance associated 1 (XRRA1), mRNA.	393					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TGGGAAGAGAGCTACTGGTAG	0.537													A	74563096	G	A	74563096	3	1	4	1	0	0	0	0	1	0	0	0	17458	971	34	2	1228	2	XRRA1	11	74563096	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1492133	74563096	60443420	2704	4769											
UVRAG	7405	broad.mit.edu	37	chr11	75851844	75851844	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggcttctctggggggaTcccttcaccagacaaaggac	12	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:75851844T>A	uc001oxc.3	+	14	1728	c.1487T>A	c.(1486-1488)aTc>aAc	p.I496N	UVRAG_uc010rrw.2_Missense_Mutation_p.I395N|UVRAG_uc001oxd.3_Missense_Mutation_p.I124N|UVRAG_uc010rrx.2_Missense_Mutation_p.I124N|UVRAG_uc010rry.2_Missense_Mutation_p.I52N	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	496					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TCTGGGGGGATCCCTTCACCA	0.502													A	75851844	T	A	75851844	3	1	4	1	0	0	0	0	1	0	0	0	17105	1435	50	5	1545	5	UVRAG	11	75851844	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1288748	75851844	59154672	2705	4770											
UVRAG	7405	broad.mit.edu	37	chr11	75851877	75851877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaggacatcgaaaacgggCcagctctgagaatgagagac	12	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:75851877C>T	uc001oxc.3	+	14	1761	c.1520C>T	c.(1519-1521)gCc>gTc	p.A507V	UVRAG_uc010rrw.2_Missense_Mutation_p.A406V|UVRAG_uc001oxd.3_Missense_Mutation_p.A135V|UVRAG_uc010rrx.2_Missense_Mutation_p.A135V|UVRAG_uc010rry.2_Missense_Mutation_p.A63V	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	507					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CGAAAACGGGCCAGCTCTGAG	0.537													T	75851877	C	T	75851877	3	4	4	1	0	0	0	0	1	0	0	0	17105	739	26	2	1578	2	UVRAG	11	75851877	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	33	75851877	59154639	2706	4771											
TSKU	25987	broad.mit.edu	37	chr11	76507476	76507476	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcttaactgggcaggagcTgaggtgttttcaggcctgag	15	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:76507476T>G	uc021qno.1	+	0	816	c.816T>G	c.(814-816)gcT>gcG	p.A272A	TSKU_uc001oxt.3_Silent_p.A272A	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.	272						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GGGCAGGAGCTGAGGTGTTTT	0.667													G	76507476	T	G	76507476	2	3	4	1	0	0	0	0	0	0	0	1	16624	1567	55	5		5	TSKU	11	76507476	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	655599	76507476	58499040	2707	4772											
PCF11	51585	broad.mit.edu	37	chr11	82868586	82868586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaccttcaatagcaagccGcacatcaatatgctgaccat	6	13	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:82868586G>A	uc001ozx.4	+	0	450	c.105G>A	c.(103-105)ccG>ccA	p.P35P	PCF11_uc010rsu.1_Silent_p.P35P	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	35	CID.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATAGCAAGCCGCACATCAATA	0.592													A	82868586	G	A	82868586	2	1	4	1	0	0	0	0	0	0	0	1	11573	1074	38	1		1	PCF11	11	82868586	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	6361110	82868586	52137930	2708	4773											
ANKRD42	338699	broad.mit.edu	37	chr11	82936075	82936075	+	Frame_Shift_Del	DEL	A	A	-													cagggggctgagtatgaaggAaaagacctagaggatcagga							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:82936074_82936074GA>G	uc010rsv.1	+	5	1186	c.764_764GA>G	c.(763-765)ggafs	p.G255fs	ANKRD42_uc001ozz.1_Frame_Shift_Del_p.G227fs|ANKRD42_uc001paa.3_Frame_Shift_Del_p.G255fs|ANKRD42_uc001pab.1_Frame_Shift_Del_p.G254fs			Q8N9B4	ANR42_HUMAN	Homo sapiens ankyrin repeat domain 42 (ANKRD42), mRNA.	227										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GAGTATGAAGGAAAAGACCTA	0.338													-	82936075	A	-	82936075	7	5	4	1	0	1	0	1	0	0	0	0	670	233	9	0	703	0	ANKRD42	11	82936075	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	67489	82936075	52070441	2709	4774											
C11orf73	51501	broad.mit.edu	37	chr11	86048431	86048431	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttgcaggagaaggaagCcaacatccttttggagccat	10	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:86048431C>T	uc001pbu.3	+	2	517	c.279C>T	c.(277-279)agC>agT	p.S93S	C11orf73_uc010rto.2_Non-coding_Transcript|C11orf73_uc010rtp.2_5'UTR|C11orf73_uc001pbv.3_Non-coding_Transcript	NM_016401	NP_057485	Q53FT3	CK073_HUMAN	Homo sapiens chromosome 11 open reading frame 73 (C11orf73), transcript variant 1, mRNA.	93						cytoplasm				kidney(1)|large_intestine(1)|urinary_tract(1)	3		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)				GAGAAGGAAGCCAACATCCTT	0.358													T	86048431	C	T	86048431	2	4	4	1	0	0	0	0	0	0	0	1	1661	738	26	2		2	C11orf73	11	86048431	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3112356	86048431	48958085	2710	4775											
ME3	10873	broad.mit.edu	37	chr11	86267716	86267716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagaagagcttctcgttccGgtcttggagtgtcatgagaa	13	7	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:86267716G>A	uc001pbz.3	-	2	600	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	ME3_uc001pca.3_Missense_Mutation_p.R116W|ME3_uc009yvk.3_Missense_Mutation_p.R116W|ME3_uc010rtr.1_Non-coding_Transcript	NM_001014811	NP_001155058	Q16798	MAON_HUMAN	Homo sapiens malic enzyme 3, NADP(+)-dependent, mitochondrial (ME3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	116					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	NAD binding|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	TTCTCGTTCCGGTCTTGGAGT	0.532													A	86267716	G	A	86267716	3	1	4	1	0	0	0	0	1	0	0	0	9419	1115	39	1	1516	1	ME3	11	86267716	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	219285	86267716	48738800	2711	4776											
GRM5	2915	broad.mit.edu	37	chr11	88300351	88300351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtggtgaaggcgctgcGcacgtttctctctggtttgg	15	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:88300351G>A	uc001pcq.3	-	6	2700	c.2500C>T	c.(2500-2502)Cgc>Tgc	p.R834C	GRM5_uc009yvm.3_Missense_Mutation_p.R834C	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	834					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R834C(3)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AAGGCGCTGCGCACGTTTCTC	0.572													A	88300351	G	A	88300351	3	1	4	1	0	0	0	0	1	0	0	0	6800	1087	38	1	1150	1	GRM5	11	88300351	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2032635	88300351	46706165	2712	4777											
CHORDC1	26973	broad.mit.edu	37	chr11	89938663	89938663	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacatgtgtttcccttttgTacagccctcttgggctaaga	8	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:89938663T>C	uc001pdg.2	-	7	1044	c.634A>G	c.(634-636)Aca>Gca	p.T212A	CHORDC1_uc009yvz.2_Missense_Mutation_p.T193A	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN	Homo sapiens cysteine and histidine-rich domain (CHORD) containing 1 (CHORDC1), transcript variant 1, mRNA.	212	CHORD 2.|Interaction with HSP90AA1 and HSP90AB1 (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				TTCCCTTTTGTACAGCCCTCT	0.323													C	89938663	T	C	89938663	3	2	4	1	0	0	0	0	1	0	0	0	3365	1638	57	3	380	3	CHORDC1	11	89938663	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1638312	89938663	45067853	2713	4778											
FAT3	120114	broad.mit.edu	37	chr11	92507336	92507336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgatgggacaaatgttgCtgttactcaggtgagatgtt	12	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:92507336C>T	uc001pdj.4	+	5	4342	c.4325C>T	c.(4324-4326)gCt>gTt	p.A1442V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1442	Cadherin 13.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACAAATGTTGCTGTTACTCAG	0.423										TCGA Ovarian(4;0.039)			T	92507336	C	T	92507336	3	4	4	1	0	0	0	0	1	0	0	0	5691	797	28	2	4347	2	FAT3	11	92507336	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2568673	92507336	42499180	2714	4779											
MTNR1B	4544	broad.mit.edu	37	chr11	92715429	92715429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgcggaggggctgcagaGcccagctccacccatcattg	12	16	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:92715429G>A	uc001pdk.1	+	1	1143	c.1040G>A	c.(1039-1041)aGc>aAc	p.S347N		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	347					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	GGGCTGCAGAGCCCAGCTCCA	0.572													A	92715429	G	A	92715429	3	1	4	1	0	0	0	0	1	0	0	0	9952	971	34	2	1046	2	MTNR1B	11	92715429	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	208093	92715429	42291087	2715	4780											
HEPHL1	341208	broad.mit.edu	37	chr11	93796832	93796832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaccattcgcacatcgacGccccaaaggacatctgctct	7	15	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:93796832G>A	uc001pep.2	+	2	731	c.574G>A	c.(574-576)Gcc>Acc	p.A192T		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	192	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GCACATCGACGCCCCAAAGGA	0.522													A	93796832	G	A	93796832	3	1	4	1	0	0	0	0	1	0	0	0	7055	1087	38	1	584	1	HEPHL1	11	93796832	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1081403	93796832	41209684	2716	4781											
HEPHL1	341208	broad.mit.edu	37	chr11	93826690	93826690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagatatatttatgaaccGcactgaaaattggattggct	10	5	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:93826690G>A	uc001pep.2	+	12	2475	c.2318G>A	c.(2317-2319)cGc>cAc	p.R773H	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	773	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTTATGAACCGCACTGAAAAT	0.428													A	93826690	G	A	93826690	3	1	4	1	0	0	0	0	1	0	0	0	7055	1087	38	1	2368	1	HEPHL1	11	93826690	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	29858	93826690	41179826	2717	4782											
MRE11A	4361	broad.mit.edu	37	chr11	94189473	94189473	+	Frame_Shift_Del	DEL	T	T	-													catcatcttcttcattagtaTttttttgtctggtttctctg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:94189472_94189472AT>A	uc009ywj.2	-	13	1862	c.1542_1542AT>T	c.(1540-1542)aatfs	p.N514fs	MRE11A_uc001peu.2_Frame_Shift_Del_p.N511fs|MRE11A_uc001pev.2_Frame_Shift_Del_p.N511fs			P49959	MRE11_HUMAN	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.	511					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTTCATTAGTATTTTTTTGTC	0.333								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				-	94189473	T	-	94189473	7	5	4	1	0	1	0	1	0	0	0	0	9759	1493	52	0	622	0	MRE11A	11	94189473	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	362783	94189473	40817043	2718	4783											
PIWIL4	143689	broad.mit.edu	37	chr11	94326774	94326774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaacagtgaggctcagctcGcccacctgatacctgagctc	9	15	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:94326774G>A	uc001pfa.3	+	8	1328	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T	PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	373	PAZ.				DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGCTCAGCTCGCCCACCTGAT	0.458													A	94326774	G	A	94326774	3	1	4	1	0	0	0	0	1	0	0	0	11960	1087	38	1	1151	1	PIWIL4	11	94326774	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	137301	94326774	40679742	2719	4784											
AMOTL1	154810	broad.mit.edu	37	chr11	94599243	94599243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgttccatccatagcagcaGctactgggacacactctcgc	8	16	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:94599243G>A	uc001pfb.3	+	10	2568	c.2398G>A	c.(2398-2400)Gct>Act	p.A800T	AMOTL1_uc001pfc.3_Missense_Mutation_p.A750T	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	800						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CATAGCAGCAGCTACTGGGAC	0.567													A	94599243	G	A	94599243	3	1	4	1	0	0	0	0	1	0	0	0	583	971	34	2	2440	2	AMOTL1	11	94599243	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	272469	94599243	40407273	2720	4785											
CEP57	9702	broad.mit.edu	37	chr11	95555113	95555113	+	Frame_Shift_Del	DEL	A	A	-													ttcccaatgcaagaagaattAaaaaaaagaagtcaaaacca							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:95555112_95555112TA>T	uc001pfp.2	+	6	1015	c.777_777TA>T	c.(775-777)attfs	p.I259fs	CEP57_uc001pfo.2_Frame_Shift_Del_p.I259fs|CEP57_uc009ywn.2_Frame_Shift_Del_p.I107fs|CEP57_uc010ruh.2_Frame_Shift_Del_p.I250fs|CEP57_uc001pfq.2_Frame_Shift_Del_p.I259fs|CEP57_uc001pfr.2_Frame_Shift_Del_p.I107fs	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN	Homo sapiens centrosomal protein 57kDa (CEP57), transcript variant 1, mRNA.	259					G2/M transition of mitotic cell cycle|fibroblast growth factor receptor signaling pathway|protein import into nucleus, translocation|spermatid development	Golgi apparatus|centrosome|cytosol|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAAGAAGAATTAAAAAAAAGA	0.368									Mosaic Variegated Aneuploidy Syndrome				-	95555113	A	-	95555113	7	5	4	1	0	1	0	1	0	0	0	0	3256	363	13	0	804	0	CEP57	11	95555113	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	955870	95555113	39451403	2721	4786											
MMP1	4312	broad.mit.edu	37	chr11	102665947	102665947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccgaatcgtagttataGcatcaaaggttagcttactg	8	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:102665947G>A	uc001phi.2	-	5	1000	c.857C>T	c.(856-858)gCt>gTt	p.A286V	LOC100288077_uc001phh.1_Non-coding_Transcript|MMP1_uc010ruv.1_Missense_Mutation_p.A220V	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	286	Hemopexin-like 1.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.A286D(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CGTAGTTATAGCATCAAAGGT	0.408													A	102665947	G	A	102665947	3	1	4	1	0	0	0	0	1	0	0	0	9648	971	34	2	572	2	MMP1	11	102665947	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	7110834	102665947	32340569	2722	4787											
DYNC2H1	79659	broad.mit.edu	37	chr11	102987424	102987424	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcctgagtcacgaatgttGcatctcttagacatcatagg	8	9	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:102987424G>A	uc001phn.1	+	4	891	c.747G>A	c.(745-747)ttG>ttA	p.L249L	DYNC2H1_uc009yxe.1_Silent_p.L249L|DYNC2H1_uc001pho.2_Silent_p.L249L	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	249	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CACGAATGTTGCATCTCTTAG	0.343													A	102987424	G	A	102987424	2	1	4	1	0	0	0	0	0	0	0	1	4846	1310	46	2		2	DYNC2H1	11	102987424	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	321477	102987424	32019092	2723	4788											
DYNC2H1	79659	broad.mit.edu	37	chr11	103349969	103349970	+	Frame_Shift_Ins	INS	-	-	A													gtggagcagctctattcctaINSaaaaatcagtagaatctaat							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:103349968_103349969T>TA	uc001phn.1	+	89	13076_13077	c.12932_12933T>TA	c.(12931-12933)ctafs	p.L4311fs	DYNC2H1_uc009yxe.1_Frame_Shift_Ins_p.L917fs|DYNC2H1_uc001pho.2_Frame_Shift_Ins_p.L4304fs	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	4304					Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GCTCTATTCCTAAAAAATCAGT	0.391													A	103349970	-	A	103349969	7	5	4	1	0	1	1	0	0	0	0	0	4846	349	13	0	13291	0	DYNC2H1	11	103349969	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	362545	103349969	31656547	2724	4789											
GUCY1A2	2977	broad.mit.edu	37	chr11	106558464	106558464	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgcggaatgaatgtgaaactTtcttctcgttttaataatct	7	7	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:106558464T>A	uc009yxn.1	-	8	2493	c.2103A>T	c.(2101-2103)gaA>gaT	p.E701D	GUCY1A2_uc001pjg.1_Missense_Mutation_p.E670D|GUCY1A2_uc010rvo.1_Missense_Mutation_p.E691D	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	670					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		ATGTGAAACTTTCTTCTCGTT	0.403													A	106558464	T	A	106558464	3	1	4	1	0	0	0	0	1	0	0	0	6893	1838	64	5	192	5	GUCY1A2	11	106558464	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	3208495	106558464	28448052	2725	4790											
CUL5	8065	broad.mit.edu	37	chr11	107920682	107920682	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attgttgaatggcgaaagttCtttacacaatgtgatatttt	8	4	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:107920682C>A	uc001pjv.3	+	3	967	c.300C>A	c.(298-300)ttC>ttA	p.F100L	CUL5_uc001pju.3_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	100					G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		GGCGAAAGTTCTTTACACAAT	0.338													A	107920682	C	A	107920682	3	1	4	1	0	0	0	0	1	0	0	0	4059	912	32	5	314	5	CUL5	11	107920682	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1362218	107920682	27085834	2726	4791											
ACAT1	38	broad.mit.edu	37	chr11	108013239	108013239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcatgacggcagatgcagCgaagaggctcaatgttacac	11	10	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:108013239C>T	uc001pjy.3	+	8	978	c.902C>T	c.(901-903)gCg>gTg	p.A301V	ACAT1_uc001pjx.3_Missense_Mutation_p.A175V	NM_000019	NP_000010	P24752	THIL_HUMAN	Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), nuclear gene encoding mitochondrial protein, mRNA.	301			A -> P (in 3KTD; 5% normal activity).		acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	GCAGATGCAGCGAAGAGGCTC	0.517													T	108013239	C	T	108013239	3	4	4	1	0	0	0	0	1	0	0	0	121	768	27	1	936	1	ACAT1	11	108013239	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	92557	108013239	26993277	2727	4792											
NPAT	4863	broad.mit.edu	37	chr11	108043647	108043647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggagtgccttctggaggCgtcagtgcaactttctcaca	11	11	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:108043647C>T	uc001pjz.4	-	12	2166	c.2064G>A	c.(2062-2064)acG>acA	p.T688T	NPAT_uc010rvv.2_5'Flank|NPAT_uc001pka.3_Silent_p.T483T	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	688					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		CTTCTGGAGGCGTCAGTGCAA	0.433													T	108043647	C	T	108043647	2	4	4	1	0	0	0	0	0	0	0	1	10566	755	27	1		1	NPAT	11	108043647	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	30408	108043647	26962869	2728	4793											
EXPH5	23086	broad.mit.edu	37	chr11	108409786	108409786	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatggaagctttgaagtctcCtttccagatttcctgaatga	9	8	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:108409786C>A	uc001pkk.3	-	2	519	c.408G>T	c.(406-408)aaG>aaT	p.K136N	EXPH5_uc010rvz.2_5'Flank|EXPH5_uc010rvy.2_5'Flank	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	136					intracellular protein transport		Rab GTPase binding	p.K136N(2)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTGAAGTCTCCTTTCCAGATT	0.438													A	108409786	C	A	108409786	3	1	4	1	0	0	0	0	1	0	0	0	5322	680	24	5	5577	5	EXPH5	11	108409786	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	366139	108409786	26596730	2729	4794											
DDX10	1662	broad.mit.edu	37	chr11	108577481	108577481	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaggtacaaagaggatggTgaagctttgctaattttgct	11	4	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:108577481T>C	uc001pkm.3	+	9	1304	c.1239T>C	c.(1237-1239)ggT>ggC	p.G413G	DDX10_uc001pkl.1_Silent_p.G413G	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	413	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AAGAGGATGGTGAAGCTTTGC	0.363			T	NUP98	AML*								C	108577481	T	C	108577481	2	2	4	1	0	0	0	0	0	0	0	1	4342	1683	59	3		3	DDX10	11	108577481	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	167695	108577481	26429035	2730	4795											
ZC3H12C	85463	broad.mit.edu	37	chr11	110035523	110035523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaccaaaaatcatggaacGccaatgccttatgaacagta	7	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:110035523G>A	uc010rwc.2	+	5	1716	c.1716G>A	c.(1714-1716)acG>acA	p.T572T	ZC3H12C_uc009yxw.3_Silent_p.T571T|ZC3H12C_uc010rwd.2_Silent_p.T572T|ZC3H12C_uc001pkr.4_Silent_p.T540T	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.	571							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		ATCATGGAACGCCAATGCCTT	0.438													A	110035523	G	A	110035523	2	1	4	1	0	0	0	0	0	0	0	1	17560	1074	38	1		1	ZC3H12C	11	110035523	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1458042	110035523	24970993	2731	4796											
ZC3H12C	85463	broad.mit.edu	37	chr11	110035979	110035979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccggtccagctgtcctggCgactacccctctcctccaag	9	19	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:110035979C>T	uc010rwc.2	+	5	2172	c.2172C>T	c.(2170-2172)ggC>ggT	p.G724G	ZC3H12C_uc009yxw.3_Silent_p.G723G|ZC3H12C_uc010rwd.2_Silent_p.G724G|ZC3H12C_uc001pkr.4_Silent_p.G692G	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.	723							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GCTGTCCTGGCGACTACCCCT	0.587													T	110035979	C	T	110035979	2	4	4	1	0	0	0	0	0	0	0	1	17560	755	27	1		1	ZC3H12C	11	110035979	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	456	110035979	24970537	2732	4797											
RDX	5962	broad.mit.edu	37	chr11	110102620	110102620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcaaactcatcgatacGctgctttgtattgccttgtc	7	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:110102620G>A	uc009yxy.3	-	13	2036	c.1726C>T	c.(1726-1728)Cgt>Tgt	p.R576C	RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Missense_Mutation_p.R229C|RDX_uc009yya.3_Missense_Mutation_p.R172C|RDX_uc001pks.3_Missense_Mutation_p.R110C|RDX_uc001pkt.3_Missense_Mutation_p.R230C|RDX_uc001pku.3_Missense_Mutation_p.R576C|RDX_uc010rwe.2_Missense_Mutation_p.R440C	NM_002906	NP_002897	P35241	RADI_HUMAN	Homo sapiens radixin (RDX), mRNA.	576					actin filament capping	Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TCATCGATACGCTGCTTTGTA	0.403													A	110102620	G	A	110102620	3	1	4	1	0	0	0	0	1	0	0	0	13198	1087	38	1	29	1	RDX	11	110102620	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	66641	110102620	24903896	2733	4798											
ARHGAP20	57569	broad.mit.edu	37	chr11	110451712	110451712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcttggattcaagaggcCgtttcatttgaacatcttca	9	10	4	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:110451712C>T	uc001pkz.1	-	15	2243	c.1958G>A	c.(1957-1959)cGg>cAg	p.R653Q	ARHGAP20_uc001pky.1_Missense_Mutation_p.R630Q|ARHGAP20_uc009yyb.1_Missense_Mutation_p.R617Q|ARHGAP20_uc001pla.1_Missense_Mutation_p.R617Q|ARHGAP20_uc001plb.2_Missense_Mutation_p.R196Q	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	653					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TTCAAGAGGCCGTTTCATTTG	0.502													T	110451712	C	T	110451712	3	4	4	1	0	0	0	0	1	0	0	0	870	652	23	1	1621	1	ARHGAP20	11	110451712	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	349092	110451712	24554804	2734	4799											
ARHGAP20	57569	broad.mit.edu	37	chr11	110477373	110477373	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctgttccataaggaagggCtcctggaggttgaaaggggt	16	6	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:110477373C>A	uc001pkz.1	-	9	1161	c.876G>T	c.(874-876)gaG>gaT	p.E292D	ARHGAP20_uc001pky.1_Missense_Mutation_p.E269D|ARHGAP20_uc009yyb.1_Missense_Mutation_p.E256D|ARHGAP20_uc001pla.1_Missense_Mutation_p.E256D	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	292	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TAAGGAAGGGCTCCTGGAGGT	0.542													A	110477373	C	A	110477373	3	1	4	1	0	0	0	0	1	0	0	0	870	796	28	5	2727	5	ARHGAP20	11	110477373	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	25661	110477373	24529143	2735	4800											
SIK2	23235	broad.mit.edu	37	chr11	111582989	111582989	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgaacatgaggctgctgCgatctgccctcctcccccag	9	18	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:111582989C>T	uc001plt.3	+	8	1274	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	Homo sapiens salt-inducible kinase 2 (SIK2), mRNA.	386					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GAGGCTGCTGCGATCTGCCCT	0.532													T	111582989	C	T	111582989	4	4	4	1	0	0	0	0	0	1	0	0	14318	760	27	1	1190	1	SIK2	11	111582989	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1105616	111582989	23423527	2736	4801											
TIMM8B	26521	broad.mit.edu	37	chr11	111956131	111956131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcagtgcgagagtctaggCgattccctggcttctccaca	10	12	3	1	rs116405897	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:111956131C>T	uc001pmx.3	-	1	215	c.185G>A	c.(184-186)cGc>cAc	p.R62H	TIMM8B_uc001pmy.3_Non-coding_Transcript|SDHD_uc001pmz.3_5'Flank	NM_012459	NP_036591	Q9Y5J9	TIM8B_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 8 homolog B (yeast) (TIMM8B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	47					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	protein binding|zinc ion binding	p.R62H(1)		large_intestine(1)	1		all_cancers(61;1.84e-10)|all_epithelial(67;9.33e-06)|Melanoma(852;4.01e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;6.01e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.03e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		AGAGTCTAGGCGATTCCCTGG	0.463													T	111956131	C	T	111956131	3	4	4	1	0	0	0	0	1	0	0	0	15912	768	27	1	115	1	TIMM8B	11	111956131	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	373142	111956131	23050385	2737	4802											
BCO2	83875	broad.mit.edu	37	chr11	112050080	112050080	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgccatgtgttgcaccGctgctgaccacagtggaaga	13	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:112050080G>A	uc001pnf.3	+	1	285	c.168G>A	c.(166-168)ccG>ccA	p.P56P	BCO2_uc001pne.1_Intron|BCO2_uc001png.3_Silent_p.P56P|BCO2_uc001pnh.3_Silent_p.P22P|BCO2_uc010rwt.2_Intron|BCO2_uc009yyn.3_Silent_p.P22P|BCO2_uc001pni.3_Silent_p.P22P	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	56					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GTGTTGCACCGCTGCTGACCA	0.517													A	112050080	G	A	112050080	2	1	4	1	0	0	0	0	0	0	0	1	1385	1074	38	1		1	BCO2	11	112050080	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	93949	112050080	22956436	2738	4803											
BCO2	83875	broad.mit.edu	37	chr11	112071486	112071486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcatgtggtggaaaaacGcactggacaggtggagtatt	14	5	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:112071486G>A	uc001pnf.3	+	6	1133	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H	BCO2_uc001pne.1_Missense_Mutation_p.R166H|BCO2_uc001png.3_Missense_Mutation_p.R266H|BCO2_uc001pnh.3_Missense_Mutation_p.R305H|BCO2_uc010rwt.2_Missense_Mutation_p.R234H|BCO2_uc009yyn.3_Missense_Mutation_p.R305H|BCO2_uc001pni.3_Missense_Mutation_p.R305H	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	339					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GTGGAAAAACGCACTGGACAG	0.388													A	112071486	G	A	112071486	3	1	4	1	0	0	0	0	1	0	0	0	1385	1087	38	1	1042	1	BCO2	11	112071486	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	21406	112071486	22935030	2739	4804											
CLDN25	644672	broad.mit.edu	37	chr11	113651128	113651128	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgatggctggtcccacagTccccctatcctgtgctccag	9	15	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:113651128T>C	uc009yyw.1	+	0	611	c.611T>C	c.(610-612)gTc>gCc	p.V204A		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	Homo sapiens claudin 25 (CLDN25), mRNA.	204						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						GGTCCCACAGTCCCCCTATCC	0.547													C	113651128	T	C	113651128	3	2	4	1	0	0	0	0	1	0	0	0	3485	1667	58	3	613	3	CLDN25	11	113651128	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1579642	113651128	21355388	2740	4805											
NNMT	4837	broad.mit.edu	37	chr11	114182863	114182863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccactgggggccgtcccCttacccccggctgactgcgt	12	18	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:114182863C>T	uc001por.1	+	4	723	c.459C>T	c.(457-459)ccC>ccT	p.P153P	NNMT_uc001pos.1_Silent_p.P153P	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	153					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	p.P153S(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GGGCCGTCCCCTTACCCCCGG	0.627													T	114182863	C	T	114182863	2	4	4	1	0	0	0	0	0	0	0	1	10509	668	24	4		4	NNMT	11	114182863	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	531735	114182863	20823653	2741	4806											
RBM7	10179	broad.mit.edu	37	chr11	114278293	114278293	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagtcttcaagctcccagTggcgccaaggtacaccatca	8	14	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:114278293T>C	uc001pow.3	+	4	578	c.568T>C	c.(568-570)Tgg>Cgg	p.W190R	RBM7_uc001pov.3_Missense_Mutation_p.W189R|RBM7_uc001pox.3_Missense_Mutation_p.W69R	NM_016090	NP_057174	Q9Y580	RBM7_HUMAN	Homo sapiens RNA binding motif protein 7 (RBM7), mRNA.	189					meiosis		RNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		AAGCTCCCAGTGGCGCCAAGG	0.428													C	114278293	T	C	114278293	3	2	4	1	0	0	0	0	1	0	0	0	13145	1696	59	3	583	3	RBM7	11	114278293	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	95430	114278293	20728223	2742	4807											
APOA5	116519	broad.mit.edu	37	chr11	116661211	116661211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccaggttctgctggatgCgtgcgtgcagggccttggcc	17	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:116661211C>T	uc009yzg.3	-	1	1244	c.812G>A	c.(811-813)cGc>cAc	p.R271H	ZNF259_uc001ppp.3_5'Flank|APOA5_uc001ppr.3_Missense_Mutation_p.R245H|APOA5_uc009yzf.3_Missense_Mutation_p.R245H			Q6Q788	APOA5_HUMAN	Homo sapiens apolipoprotein A-V (APOA5), transcript variant 2, mRNA.	245					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CTGCTGGATGCGTGCGTGCAG	0.697													T	116661211	C	T	116661211	3	4	4	1	0	0	0	0	1	0	0	0	784	768	27	1	370	1	APOA5	11	116661211	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2382918	116661211	18345305	2743	4808											
CEP164	22897	broad.mit.edu	37	chr11	117253605	117253605	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgggcaggaagaggcagaGgatcctgaggagaaggtggc	19	7	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:117253605G>T	uc001prc.3	+	13	1818	c.1671G>T	c.(1669-1671)gaG>gaT	p.E557D	CEP164_uc001prb.3_Missense_Mutation_p.E560D|CEP164_uc010rxk.1_Missense_Mutation_p.E531D|CEP164_uc001prf.3_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_5'Flank	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	557	Glu-rich.				DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGAGGCAGAGGATCCTGAGG	0.637													T	117253605	G	T	117253605	3	4	4	1	0	0	0	0	1	0	0	0	3249	991	35	5	1717	5	CEP164	11	117253605	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	592394	117253605	17752911	2744	4809											
DSCAML1	57453	broad.mit.edu	37	chr11	117308798	117308798	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgagtactgtagcacgaaGcctgcggagggtaggcctga	15	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:117308798G>A	uc001prh.1	-	25	4426	c.4424_splice	c.e25-1	p.G1475_splice		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1415					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTAGCACGAAGCCTGCGGAGG	0.632													A	117308798	G	A	117308798	5	1	4	1	0	0	0	0	0	0	1	0	4769	985	34	2	1952	2	DSCAML1	11	117308798	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	55193	117308798	17697718	2745	4810											
DSCAML1	57453	broad.mit.edu	37	chr11	117332302	117332302	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccggacgttctcagggggCtggctgggcactgcaggggg	20	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:117332302C>A	uc001prh.1	-	17	3458	c.3456G>T	c.(3454-3456)caG>caT	p.Q1152H		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1092	Fibronectin type-III 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTCAGGGGGCTGGCTGGGCA	0.627													A	117332302	C	A	117332302	3	1	4	1	0	0	0	0	1	0	0	0	4769	796	28	5	2949	5	DSCAML1	11	117332302	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	23504	117332302	17674214	2746	4811											
TMPRSS13	84000	broad.mit.edu	37	chr11	117787928	117787928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcaatgaggaggagcacGcacccgatgagcggtagctg	17	9	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:117787928G>A	uc001prs.2	-	2	659	c.513C>T	c.(511-513)tgC>tgT	p.C171C	TMPRSS13_uc009yzr.2_Intron|TMPRSS13_uc021qrc.1_Silent_p.C171C|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.2_Silent_p.C171C	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA.	166					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GGAGGAGCACGCACCCGATGA	0.627													A	117787928	G	A	117787928	2	1	4	1	0	0	0	0	0	0	0	1	16242	1079	38	1		1	TMPRSS13	11	117787928	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	455626	117787928	17218588	2747	4812											
MLL	4297	broad.mit.edu	37	chr11	118369241	118369241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcgggatttgatcaaaggcGaagtgagagagctttagttg	14	4	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:118369241G>A	uc001pta.3	+	21	5973	c.5950G>A	c.(5950-5952)Gaa>Aaa	p.E1984K	MLL_uc001ptb.3_Missense_Mutation_p.E1987K	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1984					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GATCAAAGGCGAAGTGAGAGA	0.383			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								A	118369241	G	A	118369241	3	1	4	1	0	0	0	0	1	0	0	0	9620	1059	37	1	6036	1	MLL	11	118369241	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	581313	118369241	16637275	2748	4813											
MLL	4297	broad.mit.edu	37	chr11	118373253	118373253	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactccggataatgtctccaAtgagaactgggaatacttac	8	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:118373253A>G	uc001pta.3	+	26	6660	c.6637A>G	c.(6637-6639)Atg>Gtg	p.M2213V	MLL_uc001ptb.3_Missense_Mutation_p.M2216V	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2213					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AATGTCTCCAATGAGAACTGG	0.478			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								G	118373253	A	G	118373253	3	3	4	1	0	0	0	0	1	0	0	0	9620	101	4	3	6743	3	MLL	11	118373253	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	4012	118373253	16633263	2749	4814											
PHLDB1	23187	broad.mit.edu	37	chr11	118501928	118501928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccatcctccccaggaacGccagcgcctggagaccatcc	9	18	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:118501928G>A	uc001ptr.2	+	7	2185	c.1832G>A	c.(1831-1833)cGc>cAc	p.R611H	PHLDB1_uc001pts.3_Missense_Mutation_p.R611H|PHLDB1_uc001ptt.3_Missense_Mutation_p.R611H|PHLDB1_uc001ptu.2_Intron|PHLDB1_uc001ptv.2_Missense_Mutation_p.R411H|PHLDB1_uc001ptw.2_Missense_Mutation_p.R13H|PHLDB1_uc009zai.2_5'Flank|PHLDB1_uc001ptx.2_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	611										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCCCAGGAACGCCAGCGCCTG	0.632													A	118501928	G	A	118501928	3	1	4	1	0	0	0	0	1	0	0	0	11851	1087	38	1	1854	1	PHLDB1	11	118501928	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	128675	118501928	16504588	2750	4815											
PHLDB1	23187	broad.mit.edu	37	chr11	118512986	118512986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagatggagaagctgctGctccctgctgtagacttaga	11	11	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:118512986G>A	uc001ptr.2	+	13	3104	c.2751G>A	c.(2749-2751)ctG>ctA	p.L917L	PHLDB1_uc001pts.3_Silent_p.L917L|PHLDB1_uc001ptt.3_Intron|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Silent_p.L717L|PHLDB1_uc001ptw.2_Intron|PHLDB1_uc009zai.2_Intron|PHLDB1_uc001ptx.2_Intron|PHLDB1_uc010ryi.1_Silent_p.L60L|PHLDB1_uc010ryj.1_Silent_p.L55L	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	917										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGAAGCTGCTGCTCCCTGCTG	0.612													A	118512986	G	A	118512986	2	1	4	1	0	0	0	0	0	0	0	1	11851	1306	46	2		2	PHLDB1	11	118512986	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	11058	118512986	16493530	2751	4816											
DDX6	1656	broad.mit.edu	37	chr11	118629614	118629615	+	Splice_Site	INS	-	-	G													ttctgcaaatgggaattctgINSgggggggagcgggaaaaaga							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:118629613_118629614T>TG	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL								G	118629615	-	G	118629614	8	5	4	1	0	1	1	0	0	0	1	0	4377	1363	47	0		0	DDX6	11	118629614	Splice_Site	INS	-	TCGA-BR-4184-01A-01D-1126-08	116628	118629614	16376902	2752	4817											
HYOU1	10525	broad.mit.edu	37	chr11	118921765	118921765	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctgtctagactgagcacGccactctcatccaggttgaa	8	14	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:118921765G>A	uc001puu.2	-	13	1840	c.1647C>T	c.(1645-1647)ggC>ggT	p.G549G	HYOU1_uc001put.2_Silent_p.G514G|HYOU1_uc010ryu.1_Silent_p.G569G|HYOU1_uc010ryv.1_Silent_p.G438G|HYOU1_uc001pux.3_Silent_p.G549G|HYOU1_uc010ryw.2_Non-coding_Transcript|HYOU1_uc001puw.1_Silent_p.G549G	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	Homo sapiens hypoxia up-regulated 1 (HYOU1), transcript variant 1, mRNA.	549						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GACTGAGCACGCCACTCTCAT	0.537													A	118921765	G	A	118921765	2	1	4	1	0	0	0	0	0	0	0	1	7470	1074	38	1		1	HYOU1	11	118921765	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	292151	118921765	16084751	2753	4818											
VPS11	55823	broad.mit.edu	37	chr11	118949009	118949009	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgacacactccttgagctgCgactgcagaactgggcccac	10	15	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:118949009C>T	uc010ryx.2	+	11	1924	c.1882C>T	c.(1882-1884)Cga>Tga	p.R628*	VPS11_uc010ryy.2_Nonsense_Mutation_p.R476*	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	Homo sapiens vacuolar protein sorting 11 homolog (S. cerevisiae) (VPS11), mRNA.	630					protein transport	HOPS complex|endocytic vesicle|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	p.R629*(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CCTTGAGCTGCGACTGCAGAA	0.567													T	118949009	C	T	118949009	4	4	4	1	0	0	0	0	0	1	0	0	17185	760	27	1	1929	1	VPS11	11	118949009	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	27244	118949009	16057507	2754	4819											
C1QTNF5	114902	broad.mit.edu	37	chr11	119213674	119213674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacagccagctcatggtgCgaggagacgaggtggggggg	20	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:119213674C>T	uc010rzg.1	-	7	1098	c.938G>A	c.(937-939)cGc>cAc	p.R313H	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	467	CUB 2.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GCTCATGGTGCGAGGAGACGA	0.617													T	119213674	C	T	119213674	3	4	4	1	0	0	0	0	1	0	0	0	1966	755	27	1		1	C1QTNF5	11	119213674	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	264665	119213674	15792842	2755	4820											
ARHGEF12	23365	broad.mit.edu	37	chr11	120317151	120317151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcctgaggatctgcatcGccactatatccaaactatgc	6	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:120317151G>A	uc001pxl.2	+	16	1720	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	ARHGEF12_uc009zat.3_Missense_Mutation_p.R443H|ARHGEF12_uc010rzn.1_Missense_Mutation_p.R359H|ARHGEF12_uc009zau.1_Missense_Mutation_p.R359H|ARHGEF12_uc021qrm.1_Missense_Mutation_p.R443H	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	462	RGSL.				G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GATCTGCATCGCCACTATATC	0.373			T	MLL	AML								A	120317151	G	A	120317151	3	1	4	1	0	0	0	0	1	0	0	0	897	1087	38	1	1451	1	ARHGEF12	11	120317151	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1103477	120317151	14689365	2756	4821											
UBASH3B	84959	broad.mit.edu	37	chr11	122650347	122650347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtaaaggaagacagtgCggaggtcctcaagaagtttg	13	6	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:122650347C>T	uc001pyi.4	+	3	905	c.545C>T	c.(544-546)gCg>gTg	p.A182V		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA.	182						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GAAGACAGTGCGGAGGTCCTC	0.562													T	122650347	C	T	122650347	3	4	4	1	0	0	0	0	1	0	0	0	16837	768	27	1	559	1	UBASH3B	11	122650347	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2333196	122650347	12356169	2757	4822											
GRAMD1B	57476	broad.mit.edu	37	chr11	123479434	123479434	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgaagtcttcaacttcagCgtggacaagctctatgacct	8	10	4	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:123479434C>T	uc001pyw.2	+	11	1502	c.1173C>T	c.(1171-1173)agC>agT	p.S391S	GRAMD1B_uc001pyx.2_Silent_p.S384S|GRAMD1B_uc010rzw.2_Silent_p.S344S|GRAMD1B_uc010rzx.1_Silent_p.S344S|GRAMD1B_uc009zbe.1_Silent_p.S380S|GRAMD1B_uc001pyy.2_Silent_p.S75S	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	384						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TCAACTTCAGCGTGGACAAGC	0.557													T	123479434	C	T	123479434	2	4	4	1	0	0	0	0	0	0	0	1	6748	767	27	1		1	GRAMD1B	11	123479434	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	829087	123479434	11527082	2758	4823											
ZNF202	7753	broad.mit.edu	37	chr11	123596942	123596942	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgggtgaagcagcgcccGcactcgctgcagaggtagag	16	11	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:123596942G>A	uc001pzd.1	-	8	2110	c.1710C>T	c.(1708-1710)tgC>tgT	p.C570C	ZNF202_uc001pzc.1_Silent_p.C346C|ZNF202_uc001pze.1_Silent_p.C570C|ZNF202_uc001pzf.1_Silent_p.C570C	NM_003455	NP_003446	O95125	ZN202_HUMAN	Homo sapiens zinc finger protein 202 (ZNF202), mRNA.	570					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C570C(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		AGCAGCGCCCGCACTCGCTGC	0.607													A	123596942	G	A	123596942	2	1	4	1	0	0	0	0	0	0	0	1	17760	1079	38	1		1	ZNF202	11	123596942	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	117508	123596942	11409574	2759	4824											
OR6M1	390261	broad.mit.edu	37	chr11	123676505	123676505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgagtatttatacaggCcacctgaagaagaggggcaa	14	6	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:123676505C>T	uc010rzz.2	-	0	553	c.553G>A	c.(553-555)Gcc>Acc	p.A185T		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TTTATACAGGCCACCTGAAGA	0.443													T	123676505	C	T	123676505	3	4	4	1	0	0	0	0	1	0	0	0	11205	739	26	2	391	2	OR6M1	11	123676505	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	79563	123676505	11330011	2760	4825											
OR10G8	219869	broad.mit.edu	37	chr11	123900389	123900389	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccttccccatgccccagcGctggacgcccccctctttgg	10	20	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:123900389G>A	uc001pzp.1	+	0	60	c.60G>A	c.(58-60)gcG>gcA	p.A20A		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ATGCCCCAGCGCTGGACGCCC	0.572													A	123900389	G	A	123900389	2	1	4	1	0	0	0	0	0	0	0	1	10903	1074	38	1		1	OR10G8	11	123900389	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	223884	123900389	11106127	2761	4826											
OR10G8	219869	broad.mit.edu	37	chr11	123900887	123900887	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcaccgcccatcctgaaactGgcctgtgcagacacctcagc	9	17	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:123900887G>C	uc001pzp.1	+	0	558	c.558G>C	c.(556-558)ctG>ctC	p.L186L		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCCTGAAACTGGCCTGTGCAG	0.512													C	123900887	G	C	123900887	2	2	4	1	0	0	0	0	0	0	0	1	10903	1335	47	5		5	OR10G8	11	123900887	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	498	123900887	11105629	2762	4827											
OR8B3	390271	broad.mit.edu	37	chr11	124266483	124266483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttaatatacatgaatgcCgctgacccaaaaaacagaga	6	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:124266483C>T	uc010saj.2	-	0	765	c.765G>A	c.(763-765)gcG>gcA	p.A255A	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ACATGAATGCCGCTGACCCAA	0.398													T	124266483	C	T	124266483	2	4	4	1	0	0	0	0	0	0	0	1	11228	639	23	1		1	OR8B3	11	124266483	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	365596	124266483	10740033	2763	4828											
OR8B8	26493	broad.mit.edu	37	chr11	124310510	124310510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatgcacgctgtgtgggCcatggccccagcaaacccca	10	16	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:124310510C>T	uc010sal.2	-	0	472	c.472G>A	c.(472-474)Gcc>Acc	p.A158T		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GCTGTGTGGGCCATGGCCCCA	0.527													T	124310510	C	T	124310510	3	4	4	1	0	0	0	0	1	0	0	0	11230	739	26	2	466	2	OR8B8	11	124310510	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	44027	124310510	10696006	2764	4829											
ESAM	90952	broad.mit.edu	37	chr11	124623849	124623849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggtccggggagcaatgGcatcctccctagtcatcaaa	12	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:124623849G>A	uc001qav.4	-	6	1039	c.866C>T	c.(865-867)gCc>gTc	p.A289V	VSIG2_uc001qas.3_5'Flank|VSIG2_uc001qat.3_5'Flank|ESAM_uc010sao.2_Intron|ESAM_uc001qau.4_Missense_Mutation_p.A216V|ESAM_uc001qaw.4_Non-coding_Transcript|ESAM_uc001qax.4_Non-coding_Transcript	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	Homo sapiens endothelial cell adhesion molecule (ESAM), mRNA.	289					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		GGGAGCAATGGCATCCTCCCT	0.562													A	124623849	G	A	124623849	3	1	4	1	0	0	0	0	1	0	0	0	5247	1203	42	2	310	2	ESAM	11	124623849	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	313339	124623849	10382667	2765	4830											
ESAM	90952	broad.mit.edu	37	chr11	124624540	124624540	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttacccctcactgacctgTgctcacttccagcgtcacat	5	17	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:124624540T>C	uc001qav.4	-	4	900	c.727A>G	c.(727-729)Aca>Gca	p.T243A	VSIG2_uc001qas.3_5'Flank|VSIG2_uc001qat.3_5'Flank|ESAM_uc010sao.2_Missense_Mutation_p.T64A|ESAM_uc001qau.4_Missense_Mutation_p.T170A|ESAM_uc001qaw.4_Non-coding_Transcript|ESAM_uc001qax.4_Non-coding_Transcript	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	Homo sapiens endothelial cell adhesion molecule (ESAM), mRNA.	243					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CACTGACCTGTGCTCACTTCC	0.557													C	124624540	T	C	124624540	3	2	4	1	0	0	0	0	1	0	0	0	5247	1696	59	3	457	3	ESAM	11	124624540	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	691	124624540	10381976	2766	4831											
ROBO3	64221	broad.mit.edu	37	chr11	124735609	124735609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcaaccacaccctgctgCctcccggcgatccctctctc	6	22	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:124735609C>T	uc001qbc.3	+	0	305	c.136C>T	c.(136-138)Cct>Tct	p.P46S		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	46					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CACCCTGCTGCCTCCCGGCGA	0.632											OREG0021466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	124735609	C	T	124735609	3	4	4	1	0	0	0	0	1	0	0	0	13515	739	26	2	138	2	ROBO3	11	124735609	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	111069	124735609	10270907	2767	4832											
ROBO3	64221	broad.mit.edu	37	chr11	124749437	124749437	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgattccggaagaaacccaaGgctcttccctacaggaggga	11	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:124749437G>T	uc001qbc.3	+	24	3931	c.3762G>T	c.(3760-3762)aaG>aaT	p.K1254N	ROBO3_uc001qbd.2_Missense_Mutation_p.K179N|ROBO3_uc010sar.2_Missense_Mutation_p.K303N|ROBO3_uc001qbe.3_Missense_Mutation_p.K179N|ROBO3_uc001qbf.1_Missense_Mutation_p.K138N	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	1254					axon midline choice point recognition	integral to membrane	receptor activity	p.K1254N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AGAAACCCAAGGCTCTTCCCT	0.602													T	124749437	G	T	124749437	3	4	4	1	0	0	0	0	1	0	0	0	13515	991	35	5	3860	5	ROBO3	11	124749437	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	13828	124749437	10257079	2768	4833											
SLC37A2	219855	broad.mit.edu	37	chr11	124955002	124955002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctggtcaatggcccataCgcgctcatcaccactgctgt	10	15	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:124955002C>T	uc010sau.2	+	13	1466	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	SLC37A2_uc001qbn.3_Silent_p.Y405Y|SLC37A2_uc010sav.1_Silent_p.Y30Y|SLC37A2_uc001qbp.3_Silent_p.Y30Y	NM_198277	NP_938018	Q8TED4	SPX2_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 2 (SLC37A2), transcript variant 1, mRNA.	405					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		ATGGCCCATACGCGCTCATCA	0.627													T	124955002	C	T	124955002	2	4	4	1	0	0	0	0	0	0	0	1	14598	547	19	1		1	SLC37A2	11	124955002	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	205565	124955002	10051514	2769	4834											
PKNOX2	63876	broad.mit.edu	37	chr11	125267792	125267792	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaggcaatccaggtccTgagaatccacctgctggagc	13	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:125267792T>C	uc001qbu.3	+	6	736	c.422T>C	c.(421-423)cTg>cCg	p.L141P	PKNOX2_uc010saz.2_Missense_Mutation_p.L112P|PKNOX2_uc010sba.2_Missense_Mutation_p.L112P|PKNOX2_uc010sbb.2_Missense_Mutation_p.L77P	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	Homo sapiens PBX/knotted 1 homeobox 2 (PKNOX2), mRNA.	141						nucleus	sequence-specific DNA binding transcription factor activity	p.V140V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		ATCCAGGTCCTGAGAATCCAC	0.547													C	125267792	T	C	125267792	3	2	4	1	0	0	0	0	1	0	0	0	11983	1580	55	3	436	3	PKNOX2	11	125267792	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	312790	125267792	9738724	2770	4835											
CDON	50937	broad.mit.edu	37	chr11	125853941	125853941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaagaatttggaggggTactcaagtctttgacaggat	11	7	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:125853941T>C	uc009zbw.3	-	15	2949	c.2821A>G	c.(2821-2823)Acc>Gcc	p.T941A	CDON_uc001qdb.4_Missense_Mutation_p.T318A|CDON_uc001qdc.4_Missense_Mutation_p.T941A	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	941					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TTTGGAGGGGTACTCAAGTCT	0.458													C	125853941	T	C	125853941	3	2	4	1	0	0	0	0	1	0	0	0	3170	1638	57	3	993	3	CDON	11	125853941	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	586149	125853941	9152575	2771	4836											
FOXRED1	55572	broad.mit.edu	37	chr11	126144908	126144908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagagggagtggctttggCgtcttatggtgaggcttgct	16	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:126144908C>T	uc001qdi.3	+	4	790	c.623C>T	c.(622-624)gCg>gTg	p.A208V	FOXRED1_uc010sbn.2_Missense_Mutation_p.A38V|FOXRED1_uc010sbq.2_Missense_Mutation_p.A75V|FOXRED1_uc010sbo.2_Intron|FOXRED1_uc010sbp.2_Missense_Mutation_p.A21V|FOXRED1_uc010sbr.2_Missense_Mutation_p.A194V|FOXRED1_uc001qdk.3_Intron	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 1 (FOXRED1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	208						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		GTGGCTTTGGCGTCTTATGGT	0.517													T	126144908	C	T	126144908	3	4	4	1	0	0	0	0	1	0	0	0	6033	768	27	1	641	1	FOXRED1	11	126144908	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	290967	126144908	8861608	2772	4837											
ETS1	2113	broad.mit.edu	37	chr11	128350146	128350146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccttattgaggtcagcacGgtcccgcacatagtccttga	10	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:128350146G>A	uc010sbs.1	-	5	1247	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C	ETS1_uc001qej.2_Missense_Mutation_p.R355C|ETS1_uc009zch.2_Missense_Mutation_p.R95C|ETS1_uc009zcg.2_Intron	NM_005238	NP_005229	P14921	ETS1_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 2, mRNA.	311					PML body organization|cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.R311H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		AGGTCAGCACGGTCCCGCACA	0.597													A	128350146	G	A	128350146	3	1	4	1	0	0	0	0	1	0	0	0	5275	1116	39	1	406	1	ETS1	11	128350146	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2205238	128350146	6656370	2773	4838											
C11orf45	219833	broad.mit.edu	37	chr11	128773396	128773396	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaccctcactcctgacagaGgcagacctgccttagatgaa	8	13	1	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:128773396G>T	uc001qeu.3	-	2	341	c.147C>A	c.(145-147)gcC>gcA	p.A49A	KCNJ5_uc001qet.3_Intron|KCNJ5_uc009zck.3_Intron|C11orf45_uc009zcl.3_Silent_p.A49A|C11orf45_uc001qev.3_Silent_p.A49A	NM_145013	NP_659450	Q8TAV5	CK045_HUMAN	Homo sapiens chromosome 11 open reading frame 45 (C11orf45), transcript variant 2, mRNA.	49						extracellular region				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		TCCTGACAGAGGCAGACCTGC	0.512													T	128773396	G	T	128773396	2	4	4	1	0	0	0	0	0	0	0	1	1642	987	35	5		5	C11orf45	11	128773396	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	423250	128773396	6233120	2774	4839											
ARHGAP32	9743	broad.mit.edu	37	chr11	128993351	128993351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtatacctgtatgctgCcgaactcaacattctcataa	5	11	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:128993351C>T	uc009zcp.3	-	3	392	c.392G>A	c.(391-393)gGc>gAc	p.G131D	ARHGAP32_uc009zcq.2_Missense_Mutation_p.G91D	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	131	PX; atypical.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTGTATGCTGCCGAACTCAAC	0.323													T	128993351	C	T	128993351	3	4	4	1	0	0	0	0	1	0	0	0	881	739	26	2	5947	2	ARHGAP32	11	128993351	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	219955	128993351	6013165	2775	4840											
TMEM45B	120224	broad.mit.edu	37	chr11	129722528	129722528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcgagatcgtcgaagccGcaattaggactttgttttcc	10	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:129722528G>A	uc001qfe.1	+	1	212	c.151G>A	c.(151-153)Gca>Aca	p.A51T	TMEM45B_uc001qff.1_Missense_Mutation_p.A51T	NM_138788	NP_620143	Q96B21	TM45B_HUMAN	Homo sapiens transmembrane protein 45B (TMEM45B), mRNA.	51						integral to membrane		p.A51A(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		CGTCGAAGCCGCAATTAGGAC	0.488													A	129722528	G	A	129722528	3	1	4	1	0	0	0	0	1	0	0	0	16167	1087	38	1	153	1	TMEM45B	11	129722528	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	729177	129722528	5283988	2776	4841											
NFRKB	4798	broad.mit.edu	37	chr11	129740016	129740016	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggagtgattcgcagaacCgtctggcccttggcatctgt	12	12	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:129740016C>T	uc001qfg.3	-	21	3100	c.2979G>A	c.(2977-2979)acG>acA	p.T993T	NFRKB_uc001qfi.3_Silent_p.T968T|NFRKB_uc001qfh.3_Silent_p.T991T|NFRKB_uc010sbw.1_Silent_p.T978T|NFRKB_uc009zcr.3_Silent_p.T254T	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	968					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TTCGCAGAACCGTCTGGCCCT	0.552													T	129740016	C	T	129740016	2	4	4	1	0	0	0	0	0	0	0	1	10384	639	23	1		1	NFRKB	11	129740016	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	17488	129740016	5266500	2777	4842											
PRDM10	56980	broad.mit.edu	37	chr11	129817095	129817095	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcccagtcatccagatcCgtgtcctcaccgtcttcttc	7	17	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:129817095C>T	uc001qfm.3	-	4	697	c.465G>A	c.(463-465)acG>acA	p.T155T	PRDM10_uc001qfj.3_Silent_p.T69T|PRDM10_uc001qfk.3_Silent_p.T69T|PRDM10_uc001qfl.3_Silent_p.T69T|PRDM10_uc010sbx.2_Silent_p.T69T|PRDM10_uc001qfn.3_Silent_p.T155T|PRDM10_uc009zct.1_Silent_p.T187T	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T155T(2)|p.T155M(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CATCCAGATCCGTGTCCTCAC	0.597													T	129817095	C	T	129817095	2	4	4	1	0	0	0	0	0	0	0	1	12451	639	23	1		1	PRDM10	11	129817095	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	77079	129817095	5189421	2778	4843											
ZBTB44	29068	broad.mit.edu	37	chr11	130108387	130108387	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctgaatacgggtgaatcGcaccccgcaggttggacact	12	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:130108387G>A	uc001qga.3	-	3	1613	c.1219C>T	c.(1219-1221)Cga>Tga	p.R407*	ZBTB44_uc001qgb.4_Nonsense_Mutation_p.R407*|ZBTB44_uc001qfx.3_Non-coding_Transcript|ZBTB44_uc001qfz.3_Nonsense_Mutation_p.R407*	NM_014155	NP_054874	Q8NCP5	ZBT44_HUMAN	Homo sapiens zinc finger and BTB domain containing 44 (ZBTB44), mRNA.	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		CGGGTGAATCGCACCCCGCAG	0.493													A	130108387	G	A	130108387	4	1	4	1	0	0	0	0	0	1	0	0	17542	1095	38	1	154	1	ZBTB44	11	130108387	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	291292	130108387	4898129	2779	4844											
ADAMTS15	170689	broad.mit.edu	37	chr11	130341117	130341117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggtggtggacggcacGctgtgctctcctgactccac	13	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:130341117G>A	uc010scd.2	+	6	1917	c.1917G>A	c.(1915-1917)acG>acA	p.T639T		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	639	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TGGACGGCACGCTGTGCTCTC	0.577													A	130341117	G	A	130341117	2	1	4	1	0	0	0	0	0	0	0	1	260	1074	38	1		1	ADAMTS15	11	130341117	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	232730	130341117	4665399	2780	4845											
IGSF9B	22997	broad.mit.edu	37	chr11	133791085	133791085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgatgagctcgatgggCgtggtggcctctgcctcggc	16	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:133791085C>T	uc001qgx.4	-	17	2766	c.2535G>A	c.(2533-2535)acG>acA	p.T845T		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	845						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTCGATGGGCGTGGTGGCCT	0.642													T	133791085	C	T	133791085	2	4	4	1	0	0	0	0	0	0	0	1	7606	755	27	1		1	IGSF9B	11	133791085	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3449968	133791085	1215431	2781	4846											
IGSF9B	22997	broad.mit.edu	37	chr11	133794728	133794728	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatacctgtgctggagacGccggcgatgttgctgggctc	14	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:133794728G>A	uc001qgx.4	-	14	2337	c.2106C>T	c.(2104-2106)ggC>ggT	p.G702G	IGSF9B_uc001qgy.1_Silent_p.G544G	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	702	Fibronectin type-III 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGCTGGAGACGCCGGCGATGT	0.562													A	133794728	G	A	133794728	2	1	4	1	0	0	0	0	0	0	0	1	7606	1074	38	1		1	IGSF9B	11	133794728	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3643	133794728	1211788	2782	4847											
JAM3	83700	broad.mit.edu	37	chr11	134018468	134018469	+	Frame_Shift_Ins	INS	-	-	G													gaacattggcggaattattgINSggggggttctggttgtcctt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:134018467_134018468T>TG	uc001qhb.2	+	6	897_898	c.873_874T>TG	c.(871-876)attgggfs	p.I291fs	JAM3_uc009zcz.2_Frame_Shift_Ins_p.I195fs	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	Homo sapiens junctional adhesion molecule 3 (JAM3), transcript variant 1, mRNA.	246					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GCGGAATTATTGGGGGGGTTCT	0.485													G	134018469	-	G	134018468	7	5	4	1	0	1	1	0	0	0	0	0	7944	1348	47	0	900	0	JAM3	11	134018468	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	223740	134018468	988048	2783	4848											
GLB1L2	89944	broad.mit.edu	37	chr11	134240273	134240273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacctgtctctgtgggacGccctcaagtacctgggggag	14	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:134240273G>A	uc001qhp.3	+	11	1383	c.1195G>A	c.(1195-1197)Gcc>Acc	p.A399T	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	399					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TCTGTGGGACGCCCTCAAGTA	0.612													A	134240273	G	A	134240273	3	1	4	1	0	0	0	0	1	0	0	0	6429	1087	38	1	1241	1	GLB1L2	11	134240273	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	221805	134240273	766243	2784	4849											
GLB1L2	89944	broad.mit.edu	37	chr11	134244527	134244527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggttgtattcatcaatgGccagaaccttggacgttact	12	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:134244527G>A	uc001qhp.3	+	17	1927	c.1739G>A	c.(1738-1740)gGc>gAc	p.G580D	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	580					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TTCATCAATGGCCAGAACCTT	0.547													A	134244527	G	A	134244527	3	1	4	1	0	0	0	0	1	0	0	0	6429	1203	42	2	1809	2	GLB1L2	11	134244527	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4254	134244527	761989	2785	4850											
GLB1L2	89944	broad.mit.edu	37	chr11	134244570	134244570	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacattggaccccagaagacGctttacctcccaggtccctg	8	15	0	2	rs145307661		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:134244570G>A	uc001qhp.3	+	17	1970	c.1782G>A	c.(1780-1782)acG>acA	p.T594T	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	594					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CCCAGAAGACGCTTTACCTCC	0.582													A	134244570	G	A	134244570	2	1	4	1	0	0	0	0	0	0	0	1	6429	1074	38	1		1	GLB1L2	11	134244570	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	43	134244570	761946	2786	4851											
IQSEC3	440073	broad.mit.edu	37	chr12	266244	266244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctggacgaggccctgcGcaagttccaggcacacatcc	13	14	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:266244G>A	uc001qhw.2	+	5	2207	c.2207G>A	c.(2206-2208)cGc>cAc	p.R736H	IQSEC3_uc001qhu.1_Missense_Mutation_p.R433H	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	736	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GAGGCCCTGCGCAAGTTCCAG	0.637													A	266244	G	A	266244	3	1	4	1	0	0	0	0	1	0	0	0	7819	1087	38	1	2229	1	IQSEC3	12	266244	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08		266244	133585651	2787	4852											
KDM5A	5927	broad.mit.edu	37	chr12	416652	416652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggcagctgctttttggaGttctgcactgatgatctttt	10	7	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:416652G>A	uc001qif.1	-	22	4261	c.3898C>T	c.(3898-3900)Ctc>Ttc	p.L1300F		NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1300					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GCTTTTTGGAGTTCTGCACTG	0.413			T	NUP98	AML								A	416652	G	A	416652	3	1	4	1	0	0	0	0	1	0	0	0	8133	1029	36	4	1198	4	KDM5A	12	416652	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	150408	416652	133435243	2788	4853											
B4GALNT3	283358	broad.mit.edu	37	chr12	654106	654106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggaccaactatggcctccGcatctttggctacctgcacc	8	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:654106G>A	uc001qii.1	+	4	506	c.506G>A	c.(505-507)cGc>cAc	p.R169H	B4GALNT3_uc001qij.1_Missense_Mutation_p.R71H	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	169						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TATGGCCTCCGCATCTTTGGC	0.527													A	654106	G	A	654106	3	1	4	1	0	0	0	0	1	0	0	0	1268	1087	38	1	524	1	B4GALNT3	12	654106	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	237454	654106	133197789	2789	4854											
B4GALNT3	283358	broad.mit.edu	37	chr12	657408	657408	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttccagtggcgacggaaCgaccctggagccaagttcac	11	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:657408C>T	uc001qii.1	+	8	798	c.798C>T	c.(796-798)aaC>aaT	p.N266N	B4GALNT3_uc001qij.1_Silent_p.N168N	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	266						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGCGACGGAACGACCCTGGAG	0.592													T	657408	C	T	657408	2	4	4	1	0	0	0	0	0	0	0	1	1268	535	19	1		1	B4GALNT3	12	657408	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3302	657408	133194487	2790	4855											
WNK1	65125	broad.mit.edu	37	chr12	966394	966394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaattattgaaggatgcaTacgacaaaacaaagatgaaa	9	4	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:966394T>C	uc021qss.1	+	4	2022	c.1379T>C	c.(1378-1380)aTa>aCa	p.I460T	WNK1_uc001qio.4_Missense_Mutation_p.I460T|WNK1_uc021qst.1_Missense_Mutation_p.I460T|WNK1_uc001qip.4_Missense_Mutation_p.I460T	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	460	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GAAGGATGCATACGACAAAAC	0.353													C	966394	T	C	966394	3	2	4	1	0	0	0	0	1	0	0	0	17374	1406	49	3	1397	3	WNK1	12	966394	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	308986	966394	132885501	2791	4856											
ERC1	23085	broad.mit.edu	37	chr12	1137114	1137114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaggtggagccgagcagCcagagccctgggcgttcacc	17	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:1137114C>T	uc001qjb.2	+	1	286	c.45C>T	c.(43-45)agC>agT	p.S15S	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Silent_p.S15S|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Silent_p.S15S	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	15					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGCCGAGCAGCCAGAGCCCTG	0.557													T	1137114	C	T	1137114	2	4	4	1	0	0	0	0	0	0	0	1	5210	738	26	2		2	ERC1	12	1137114	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	170720	1137114	132714781	2792	4857											
ERC1	23085	broad.mit.edu	37	chr12	1137664	1137664	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagctgaagaaggaacgaGccctgagaaaagatgaagct	13	7	0	6			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:1137664G>T	uc001qjb.2	+	1	836	c.595G>T	c.(595-597)Gcc>Tcc	p.A199S	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.A199S|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Missense_Mutation_p.A199S	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	199					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GAAGGAACGAGCCCTGAGAAA	0.433													T	1137664	G	T	1137664	3	4	4	1	0	0	0	0	1	0	0	0	5210	971	34	5	597	5	ERC1	12	1137664	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	550	1137664	132714231	2793	4858											
ERC1	23085	broad.mit.edu	37	chr12	1299205	1299205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacaaagataagaagataGctgagttggaaaggtaagaa	12	2	0	6			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:1299205G>A	uc001qjb.2	+	11	2579	c.2338G>A	c.(2338-2340)Gct>Act	p.A780T	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.A752T|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Missense_Mutation_p.A780T|ERC1_uc010sdv.1_Missense_Mutation_p.A528T|ERC1_uc009zdp.3_Missense_Mutation_p.A420T|ERC1_uc001qje.2_Non-coding_Transcript	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	780					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TAAGAAGATAGCTGAGTTGGA	0.383													A	1299205	G	A	1299205	3	1	4	1	0	0	0	0	1	0	0	0	5210	971	34	2	2380	2	ERC1	12	1299205	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	161541	1299205	132552690	2794	4859											
CACNA2D4	93589	broad.mit.edu	37	chr12	2024074	2024074	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtgttatacaggtccccGccgaaggtgtcagcccatag	11	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:2024074G>A	uc021qsx.1	-	1	486	c.255C>T	c.(253-255)ggC>ggT	p.G85G	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.G85G	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	85						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.G85G(1)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ACAGGTCCCCGCCGAAGGTGT	0.542													A	2024074	G	A	2024074	2	1	4	1	0	0	0	0	0	0	0	1	2551	1074	38	1		1	CACNA2D4	12	2024074	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	724869	2024074	131827821	2795	4860											
CACNA1C	775	broad.mit.edu	37	chr12	2788716	2788716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgctgcacatcaacaaggCgggcagcagccagggcgaca	13	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:2788716C>T	uc009zdu.1	+	43	5655	c.5342C>T	c.(5341-5343)gCg>gTg	p.A1781V	CACNA1C_uc001qkc.2_Missense_Mutation_p.A1752V|CACNA1C_uc001qjz.2_Missense_Mutation_p.A1733V|CACNA1C_uc001qkd.2_Missense_Mutation_p.A1752V|CACNA1C_uc001qke.2_Missense_Mutation_p.A1722V|CACNA1C_uc001qkf.2_Missense_Mutation_p.A1741V|CACNA1C_uc009zdw.1_Missense_Mutation_p.A1774V|CACNA1C_uc001qkg.2_Missense_Mutation_p.A1739V|CACNA1C_uc001qkh.2_Missense_Mutation_p.A1741V|CACNA1C_uc001qkl.2_Missense_Mutation_p.A1781V|CACNA1C_uc001qkj.2_Missense_Mutation_p.A1733V|CACNA1C_uc001qkk.2_Missense_Mutation_p.A1733V|CACNA1C_uc001qkn.2_Missense_Mutation_p.A1733V|CACNA1C_uc001qkm.2_Missense_Mutation_p.A1722V|CACNA1C_uc001qko.2_Missense_Mutation_p.A1753V|CACNA1C_uc001qkp.2_Missense_Mutation_p.A1733V|CACNA1C_uc001qkq.2_Missense_Mutation_p.A1761V|CACNA1C_uc001qku.2_Missense_Mutation_p.A1733V|CACNA1C_uc001qkr.2_Missense_Mutation_p.A1750V|CACNA1C_uc001qks.2_Missense_Mutation_p.A1733V|CACNA1C_uc001qkt.2_Missense_Mutation_p.A1752V|CACNA1C_uc009zdv.1_Missense_Mutation_p.A1730V|CACNA1C_uc001qkb.2_Missense_Mutation_p.A1733V|CACNA1C_uc001qki.1_Missense_Mutation_p.A1469V|CACNA1C_uc010sea.1_Missense_Mutation_p.A424V|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.A51V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1781					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ATCAACAAGGCGGGCAGCAGC	0.652													T	2788716	C	T	2788716	3	4	4	1	0	0	0	0	1	0	0	0	2540	768	27	1	5747	1	CACNA1C	12	2788716	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	764642	2788716	131063179	2796	4861											
FKBP4	2288	broad.mit.edu	37	chr12	2907922	2907922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacggaagaggaagatggCggaatcattcgcagaataca	13	7	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:2907922C>T	uc001qkz.3	+	3	642	c.444C>T	c.(442-444)ggC>ggT	p.G148G		NM_002014	NP_002005	Q02790	FKBP4_HUMAN	Homo sapiens FK506 binding protein 4, 59kDa (FKBP4), mRNA.	148					negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	p.G148G(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	AGGAAGATGGCGGAATCATTC	0.498													T	2907922	C	T	2907922	2	4	4	1	0	0	0	0	0	0	0	1	5910	755	27	1		1	FKBP4	12	2907922	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	119206	2907922	130943973	2797	4862											
GALNT8	26290	broad.mit.edu	37	chr12	4835984	4835984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcgcaccatccccgacacGcgagactacaggtgggatga	11	13	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:4835984G>A	uc001qne.1	+	1	590	c.498G>A	c.(496-498)acG>acA	p.T166T		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	166						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.T166M(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TCCCCGACACGCGAGACTACA	0.572													A	4835984	G	A	4835984	2	1	4	1	0	0	0	0	0	0	0	1	6219	1074	38	1		1	GALNT8	12	4835984	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1928062	4835984	129015911	2798	4863											
KCNA6	3742	broad.mit.edu	37	chr12	4919925	4919925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttcatcatggcatcaccCctggggaaatggggaccggg	13	11	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:4919925C>T	uc001qng.3	+	0	1584	c.718C>T	c.(718-720)Cct>Tct	p.P240S	KCNA6_uc021qtr.1_Missense_Mutation_p.P240S	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	240						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TGGCATCACCCCTGGGGAAAT	0.547										HNSCC(72;0.22)			T	4919925	C	T	4919925	3	4	4	1	0	0	0	0	1	0	0	0	8007	623	22	4	720	4	KCNA6	12	4919925	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	83941	4919925	128931970	2799	4864											
KCNA6	3742	broad.mit.edu	37	chr12	4920535	4920535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcgtgggctcgctgtgtgCcatcgctggggtcctcacca	14	13	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:4920535C>T	uc001qng.3	+	0	2194	c.1328C>T	c.(1327-1329)gCc>gTc	p.A443V	KCNA6_uc021qtr.1_Missense_Mutation_p.A443V	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	443						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TCGCTGTGTGCCATCGCTGGG	0.602										HNSCC(72;0.22)			T	4920535	C	T	4920535	3	4	4	1	0	0	0	0	1	0	0	0	8007	739	26	2	1330	2	KCNA6	12	4920535	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	610	4920535	128931360	2800	4865											
KCNA5	3741	broad.mit.edu	37	chr12	5154014	5154014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccgcaacgagttccagcGccaggtgtggcttatcttcg	12	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:5154014G>A	uc001qni.3	+	0	930	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	234						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GAGTTCCAGCGCCAGGTGTGG	0.602													A	5154014	G	A	5154014	3	1	4	1	0	0	0	0	1	0	0	0	8006	1087	38	1	703	1	KCNA5	12	5154014	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	233479	5154014	128697881	2801	4866											
VWF	7450	broad.mit.edu	37	chr12	6127784	6127784	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgtagaccaggttgggCgcctgctcccggtcaccctg	12	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:6127784C>T	uc001qnn.1	-	27	5050	c.4800G>A	c.(4798-4800)gcG>gcA	p.A1600A	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1600	VWFA 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCAGGTTGGGCGCCTGCTCCC	0.612													T	6127784	C	T	6127784	2	4	4	1	0	0	0	0	0	0	0	1	17243	755	27	1		1	VWF	12	6127784	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	973770	6127784	127724111	2802	4867											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6439819	6439821	+	In_Frame_Del	DEL	GAG	GAG	-													cgatacattaaaccaatgaaGaggagggataaaaggcaaag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:6439818_6439820AGAG>A	uc001qnu.3	-	6	986_988	c.683_685CTCT>T	c.(682-687)ctcttc>cTtc	p.F229del	TNFRSF1A_uc001qnt.3_In_Frame_Del_p.F121del|TNFRSF1A_uc010sey.2_5'UTR|TNFRSF1A_uc010sez.2_In_Frame_Del_p.F121del|TNFRSF1A_uc009zek.3_In_Frame_Del_p.F186del	NM_001065	NP_001056	P19438	TNR1A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA.	229					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						AAACCAATGAAGAGGAGGGATAA	0.557													-	6439821	GAG	-	6439819	7	5	4	1	0	1	0	1	0	0	0	0	16290	929	33	0	699	0	TNFRSF1A	12	6439819	In_Frame_Del	DEL	GAG	TCGA-BR-4184-01A-01D-1126-08	312035	6439819	127412076	2803	4868											
CHD4	1108	broad.mit.edu	37	chr12	6711240	6711240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgccaggagtatagtcGctgccctcactgtctgagcg	11	12	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:6711240G>A	uc001qpo.3	-	3	488	c.324C>T	c.(322-324)agC>agT	p.S108S	CHD4_uc001qpn.3_Silent_p.S101S|CHD4_uc001qpp.3_Silent_p.S105S	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	108					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GAGTATAGTCGCTGCCCTCAC	0.557													A	6711240	G	A	6711240	2	1	4	1	0	0	0	0	0	0	0	1	3327	1078	38	1		1	CHD4	12	6711240	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	271421	6711240	127140655	2804	4869											
COPS7A	50813	broad.mit.edu	37	chr12	6839847	6839847	+	Frame_Shift_Del	DEL	A	A	-													cctggtaggttgccaaccttAaaaaaaccattaaagttacg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:6839846_6839846TA>T	uc001qqj.3	+	6	887	c.648_648TA>T	c.(646-648)cttfs	p.L216fs	COPS7A_uc001qqh.3_Frame_Shift_Del_p.L216fs|COPS7A_uc001qqi.3_Frame_Shift_Del_p.L216fs|COPS7A_uc001qqn.4_Frame_Shift_Del_p.L216fs	NM_001164094	NP_057403	Q9UBW8	CSN7A_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis) (COPS7A), transcript variant 2, mRNA.	216					cullin deneddylation	cytoplasm|signalosome				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						TTGCCAACCTTAAAAAAACCA	0.542													-	6839847	A	-	6839847	7	5	4	1	0	1	0	1	0	0	0	0	3738	363	13	0	671	0	COPS7A	12	6839847	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	128607	6839847	127012048	2805	4870											
ENO2	2026	broad.mit.edu	37	chr12	7025874	7025874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacatcaactccaccatcgCgccagccctcatcagctcag	5	20	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:7025874C>T	uc001qru.1	+	3	443	c.221C>T	c.(220-222)gCg>gTg	p.A74V	ENO2_uc009zfi.1_Missense_Mutation_p.A74V|ENO2_uc010sfq.1_Intron|ENO2_uc001qrv.1_Missense_Mutation_p.A74V	NM_001975	NP_001966	P09104	ENOG_HUMAN	Homo sapiens enolase 2 (gamma, neuronal) (ENO2), mRNA.	74					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TCCACCATCGCGCCAGCCCTC	0.612													T	7025874	C	T	7025874	3	4	4	1	0	0	0	0	1	0	0	0	5122	768	27	1	231	1	ENO2	12	7025874	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	186027	7025874	126826021	2806	4871											
RBP5	83758	broad.mit.edu	37	chr12	7280857	7280857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcattttcgtccgtccacGctcctgaggtcctcctcaaa	8	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:7280857G>A	uc001qsq.3	-	1	326	c.231C>T	c.(229-231)agC>agT	p.S77S	CLSTN3_uc001qsr.3_5'Flank	NM_031491	NP_113679	P82980	RET5_HUMAN	Homo sapiens retinol binding protein 5, cellular (RBP5), mRNA.	77						cytoplasm	retinal binding|retinol binding|transporter activity			autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)	10					Vitamin A(DB00162)	GTCCGTCCACGCTCCTGAGGT	0.557													A	7280857	G	A	7280857	2	1	4	1	0	0	0	0	0	0	0	1	13159	1078	38	1		1	RBP5	12	7280857	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	254983	7280857	126571038	2807	4872											
CLSTN3	9746	broad.mit.edu	37	chr12	7288865	7288865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctttgttccctggtatccGcctggagacctgtgatgaac	12	11	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:7288865G>A	uc001qss.3	+	4	1380	c.842G>A	c.(841-843)cGc>cAc	p.R281H	CLSTN3_uc001qsr.3_Missense_Mutation_p.R269H	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	269					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CCTGGTATCCGCCTGGAGACC	0.557													A	7288865	G	A	7288865	3	1	4	1	0	0	0	0	1	0	0	0	3563	1087	38	1	828	1	CLSTN3	12	7288865	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	8008	7288865	126563030	2808	4873											
CD163L1	283316	broad.mit.edu	37	chr12	7528533	7528533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagaatcacagacagagcGccatgtgtctgcatgtttca	9	10	4	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:7528533G>A	uc010sge.2	-	9	2505	c.2479C>T	c.(2479-2481)Cgc>Tgc	p.R827C	CD163L1_uc001qsy.3_Missense_Mutation_p.R817C	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	817	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGACAGAGCGCCATGTGTCT	0.463													A	7528533	G	A	7528533	3	1	4	1	0	0	0	0	1	0	0	0	2968	1087	38	1	1952	1	CD163L1	12	7528533	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	239668	7528533	126323362	2809	4874											
NANOG	79923	broad.mit.edu	37	chr12	7945545	7945545	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttttatttgttcccaacaGtctctcctcttccttcctcc	2	17	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:7945545G>T	uc009zfy.1	+	2	368	c.152_splice	c.e2-1	p.V51_splice		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Homo sapiens Nanog homeobox (NANOG), mRNA.	51					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		GTTCCCAACAGTCTCTCCTCT	0.368													T	7945545	G	T	7945545	5	4	4	1	0	0	0	0	0	0	1	0	10150	1043	36	5	157	5	NANOG	12	7945545	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	417012	7945545	125906350	2810	4875											
AICDA	57379	broad.mit.edu	37	chr12	8759609	8759609	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctccggttcatcaagaggCtgtgggtgagaggagggaga	17	7	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:8759609C>T	uc001qur.2	-	2	88	c.9_splice	c.e2-1	p.S3_splice	AICDA_uc001qup.1_Splice_Site|AICDA_uc001quq.1_Splice_Site|AICDA_uc009zgd.1_Splice_Site	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	3					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CATCAAGAGGCTGTGGGTGAG	0.463													T	8759609	C	T	8759609	5	4	4	1	0	0	0	0	0	0	1	0	422	811	28	2	604	2	AICDA	12	8759609	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	814064	8759609	125092286	2811	4876											
RIMKLB	57494	broad.mit.edu	37	chr12	8866509	8866509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtttttgacagatcgtcGcatcagggaagactatcctc	11	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:8866509G>A	uc001qux.2	+	2	1309	c.47G>A	c.(46-48)cGc>cAc	p.R16H	RIMKLB_uc009zgf.2_Non-coding_Transcript|RIMKLB_uc010sgl.1_Missense_Mutation_p.R16H|RIMKLB_uc001quw.2_Missense_Mutation_p.R16H	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member B (RIMKLB), mRNA.	16					protein modification process	cytoplasm	ATP binding|acid-amino acid ligase activity|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ACAGATCGTCGCATCAGGGAA	0.458													A	8866509	G	A	8866509	3	1	4	1	0	0	0	0	1	0	0	0	13366	1087	38	1	49	1	RIMKLB	12	8866509	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	106900	8866509	124985386	2812	4877											
A2ML1	144568	broad.mit.edu	37	chr12	9000230	9000230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcccggatccctgtgtgCgctccgggcggtggatgaga	16	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:9000230C>T	uc001quz.4	+	14	1867	c.1769C>T	c.(1768-1770)gCg>gTg	p.A590V	A2ML1_uc001qva.1_Missense_Mutation_p.A170V|A2ML1_uc010sgm.2_Missense_Mutation_p.A90V	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	434						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCCCTGTGTGCGCTCCGGGCG	0.607													T	9000230	C	T	9000230	3	4	4	1	0	0	0	0	1	0	0	0	5	768	27	1	1827	1	A2ML1	12	9000230	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	133721	9000230	124851665	2813	4878											
A2M	2	broad.mit.edu	37	chr12	9229462	9229462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttggtatatacatggctgCcatggtccccttcttgtgct	9	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:9229462C>T	uc001qvk.1	-	27	3535	c.3422G>A	c.(3421-3423)gGc>gAc	p.G1141D	A2M_uc009zgk.1_Missense_Mutation_p.G991D	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	1141					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TACATGGCTGCCATGGTCCCC	0.512													T	9229462	C	T	9229462	3	4	4	1	0	0	0	0	1	0	0	0	4	739	26	2	1038	2	A2M	12	9229462	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	229232	9229462	124622433	2814	4879											
A2M	2	broad.mit.edu	37	chr12	9262560	9262560	+	Frame_Shift_Del	DEL	A	A	-													aagggctctgatgagaggggAaaagaaaattgcttgaggcc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:9262559_9262559GA>G	uc001qvk.1	-	5	690	c.577_577TC>C	c.(577-579)cccfs	p.P193fs	A2M_uc009zgk.1_Frame_Shift_Del_p.P43fs	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	193					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GATGAGAGGGGAAAAGAAAAT	0.458													-	9262560	A	-	9262560	7	5	4	1	0	1	0	1	0	0	0	0	4	243	9	0	3972	0	A2M	12	9262560	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	33098	9262560	124589335	2815	4880											
A2M	2	broad.mit.edu	37	chr12	9268379	9268379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggttttccagagactgaggCgtctgtgggcaggaggacca	16	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:9268379C>T	uc001qvk.1	-	0	180	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	A2M_uc009zgk.1_5'UTR	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	23					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GAGACTGAGGCGTCTGTGGGC	0.458													T	9268379	C	T	9268379	3	4	4	1	0	0	0	0	1	0	0	0	4	768	27	1	4501	1	A2M	12	9268379	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	5819	9268379	124583516	2816	4881											
CLEC1B	51266	broad.mit.edu	37	chr12	10147759	10147759	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattttctgagataaccgaGccatcctcccacttccagac	5	14	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:10147759G>A	uc001qwu.3	-	4	725	c.525C>T	c.(523-525)ggC>ggT	p.G175G	CLEC1B_uc009zhd.3_Silent_p.G142G	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN	Homo sapiens C-type lectin domain family 1, member B (CLEC1B), transcript variant 1, mRNA.	175	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						AGATAACCGAGCCATCCTCCC	0.433													A	10147759	G	A	10147759	2	1	4	1	0	0	0	0	0	0	0	1	3506	958	34	2		2	CLEC1B	12	10147759	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	879380	10147759	123704136	2817	4882											
CLEC12B	387837	broad.mit.edu	37	chr12	10167889	10167889	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcctaagatgtggcaatggTaccaaaatagttgctactat	9	7	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:10167889T>C	uc001qwz.2	+	3	576	c.448T>C	c.(448-450)Tac>Cac	p.Y150H	CLEC12B_uc001qwx.2_Missense_Mutation_p.Y150H|CLEC12B_uc001qwy.2_Missense_Mutation_p.Y47H|CLEC12B_uc009zhe.2_Non-coding_Transcript	NM_001129998	NP_001123470	Q2HXU8	CL12B_HUMAN	Homo sapiens C-type lectin domain family 12, member B (CLEC12B), transcript variant 1, mRNA.	150	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						GTGGCAATGGTACCAAAATAG	0.388													C	10167889	T	C	10167889	3	2	4	1	0	0	0	0	1	0	0	0	3498	1638	57	3	462	3	CLEC12B	12	10167889	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	20130	10167889	123684006	2818	4883											
CLEC9A	283420	broad.mit.edu	37	chr12	10206943	10206943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcatccattttcttgggCgtcaagtgtaagtactaaaa	8	8	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:10206943C>T	uc001qxa.3	+	4	778	c.165C>T	c.(163-165)ggC>ggT	p.G55G		NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN	Homo sapiens C-type lectin domain family 9, member A (CLEC9A), mRNA.	55					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						TTTTCTTGGGCGTCAAGTGTA	0.303													T	10206943	C	T	10206943	2	4	4	1	0	0	0	0	0	0	0	1	3522	755	27	1		1	CLEC9A	12	10206943	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	39054	10206943	123644952	2819	4884											
GABARAPL1	23710	broad.mit.edu	37	chr12	10370695	10370695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctccaaaagccagggtgCctgatctggacaagaggaag	14	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:10370695C>T	uc001qxs.3	+	1	364	c.124C>T	c.(124-126)Cct>Tct	p.P42S	GABARAPL1_uc010shb.1_Missense_Mutation_p.P42S|GABARAPL1_uc001qxt.3_Non-coding_Transcript	NM_031412	NP_113600	Q9H0R8	GBRL1_HUMAN	Homo sapiens GABA(A) receptor-associated protein like 1 (GABARAPL1), mRNA.	42	Interaction with GABRG2 (By similarity).					Golgi apparatus|autophagic vacuole|endoplasmic reticulum|membrane|microtubule	GABA receptor binding|beta-tubulin binding			NS(1)|lung(1)	2						AGCCAGGGTGCCTGATCTGGA	0.473													T	10370695	C	T	10370695	3	4	4	1	0	0	0	0	1	0	0	0	6153	739	26	2	130	2	GABARAPL1	12	10370695	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	163752	10370695	123481200	2820	4885											
CSDA	8531	broad.mit.edu	37	chr12	10862618	10862618	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgatactgggggcggcgCagctgattccgggccccaga	18	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:10862618C>T	uc001qyt.3	-	5	912	c.669G>A	c.(667-669)ctG>ctA	p.L223L	CSDA_uc001qyu.3_Intron	NM_003651	NP_003642	P16989	DBPA_HUMAN	Homo sapiens cold shock domain protein A (CSDA), transcript variant 1, mRNA.	223					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	19	Glioma(1;0.155)					GGGGGCGGCGCAGCTGATTCC	0.647													T	10862618	C	T	10862618	2	4	4	1	0	0	0	0	0	0	0	1	3927	697	25	2		2	CSDA	12	10862618	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	491923	10862618	122989277	2821	4886											
CSDA	8531	broad.mit.edu	37	chr12	10862684	10862684	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaatccttcactgctgccGctcccttcctcctcctcctc	3	21	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:10862684G>A	uc001qyt.3	-	5	846	c.603C>T	c.(601-603)agC>agT	p.S201S	CSDA_uc001qyu.3_Intron	NM_003651	NP_003642	P16989	DBPA_HUMAN	Homo sapiens cold shock domain protein A (CSDA), transcript variant 1, mRNA.	201					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	19	Glioma(1;0.155)					CACTGCTGCCGCTCCCTTCCT	0.557													A	10862684	G	A	10862684	2	1	4	1	0	0	0	0	0	0	0	1	3927	1078	38	1		1	CSDA	12	10862684	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	66	10862684	122989211	2822	4887											
TAS2R30	259293	broad.mit.edu	37	chr12	11286180	11286180	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagcttttatgtggacctTggtgctgggatcttgagatc	12	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:11286180T>C	uc009zhs.1	-	0	664	c.664A>G	c.(664-666)Aag>Gag	p.K222E	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_001097643	NP_001091112			Homo sapiens taste receptor, type 2, member 30 (TAS2R30), mRNA.											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						ATGTGGACCTTGGTGCTGGGA	0.418													C	11286180	T	C	11286180	3	2	4	1	0	0	0	0	1	0	0	0	15570	1821	63	3	299	3	TAS2R30	12	11286180	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	423496	11286180	122565715	2823	4888											
LRP6	4040	broad.mit.edu	37	chr12	12334196	12334196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccatctataaatgaacggCgtatggccctcacttcatca	6	12	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:12334196C>T	uc001rah.4	-	5	1296	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R385H	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	385	Beta-propeller 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AAATGAACGGCGTATGGCCCT	0.458													T	12334196	C	T	12334196	3	4	4	1	0	0	0	0	1	0	0	0	8962	768	27	1	3759	1	LRP6	12	12334196	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1048016	12334196	121517699	2824	4889											
DUSP16	80824	broad.mit.edu	37	chr12	12630760	12630760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacagggtggactgaggggCgtctcgcttttctgtccacc	14	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:12630760C>T	uc001rao.2	-	6	1768	c.1005G>A	c.(1003-1005)acG>acA	p.T335T	DUSP16_uc001ran.2_Silent_p.T187T	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	Homo sapiens dual specificity phosphatase 16 (DUSP16), mRNA.	335					MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive|inactivation of MAPK activity	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GACTGAGGGGCGTCTCGCTTT	0.622													T	12630760	C	T	12630760	2	4	4	1	0	0	0	0	0	0	0	1	4816	755	27	1		1	DUSP16	12	12630760	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	296564	12630760	121221135	2825	4890											
GSG1	83445	broad.mit.edu	37	chr12	13243486	13243486	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccacatgccactccggaaGctccggaaggagaaccggtc	12	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:13243486G>T	uc001rbn.3	-	1	499	c.315C>A	c.(313-315)agC>agA	p.S105R	GSG1_uc001rbl.3_Missense_Mutation_p.S92R|GSG1_uc001rbj.3_Missense_Mutation_p.S92R|GSG1_uc001rbk.3_Missense_Mutation_p.S92R|GSG1_uc001rbm.3_Missense_Mutation_p.S92R|GSG1_uc001rbo.3_Missense_Mutation_p.S105R|GSG1_uc001rbp.3_Missense_Mutation_p.S105R|GSG1_uc001rbq.2_Missense_Mutation_p.S105R	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	Homo sapiens germ cell associated 1 (GSG1), transcript variant 4, mRNA.	92						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		CACTCCGGAAGCTCCGGAAGG	0.552													T	13243486	G	T	13243486	3	4	4	1	0	0	0	0	1	0	0	0	6820	962	34	5	921	5	GSG1	12	13243486	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	612726	13243486	120608409	2826	4891											
GRIN2B	2904	broad.mit.edu	37	chr12	13717182	13717182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcccatcgatggagctgGcactgccaatactatggggc	13	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:13717182G>A	uc001rbt.2	-	12	3169	c.2990C>T	c.(2989-2991)gCc>gTc	p.A997V		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	997					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GATGGAGCTGGCACTGCCAAT	0.582													A	13717182	G	A	13717182	3	1	4	1	0	0	0	0	1	0	0	0	6780	1203	42	2	1468	2	GRIN2B	12	13717182	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	473696	13717182	120134713	2827	4892											
ATF7IP	55729	broad.mit.edu	37	chr12	14576874	14576875	+	Frame_Shift_Ins	INS	-	-	A													cagtttagaagaacctcagaINSaaaaagtctttaaggctcga							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:14576873_14576874G>GA	uc001rbw.3	+	1	182_183	c.24_25G>GA	c.(22-27)cagaaafs	p.Q8fs	ATF7IP_uc010shs.1_Frame_Shift_Ins_p.Q8fs|ATF7IP_uc001rbu.3_Frame_Shift_Ins_p.Q8fs|ATF7IP_uc001rbv.1_Frame_Shift_Ins_p.Q8fs|ATF7IP_uc001rbx.3_Frame_Shift_Ins_p.Q8fs|ATF7IP_uc010sht.1_Frame_Shift_Ins_p.Q8fs|ATF7IP_uc001rby.4_Frame_Shift_Ins_p.Q8fs|ATF7IP_uc001rbz.1_Frame_Shift_Ins_p.Q8fs|ATF7IP_uc001rca.3_Frame_Shift_Ins_p.Q8fs|ATF7IP_uc001rcb.3_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	8					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AAGAACCTCAGAAAAAAGTCTT	0.351													A	14576875	-	A	14576874	7	5	4	1	0	1	1	0	0	0	0	0	1087	247	9	0	27	0	ATF7IP	12	14576874	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	859692	14576874	119275021	2828	4893											
C12orf60	144608	broad.mit.edu	37	chr12	14976105	14976105	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtggatgcaagacatgAcaaaattcaaaaggagtctt	10	5	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:14976105A>G	uc001rcj.4	+	1	440	c.236A>G	c.(235-237)gAc>gGc	p.D79G	C12orf60_uc021qvq.1_Missense_Mutation_p.D79G	NM_175874	NP_787070	Q5U649	CL060_HUMAN	Homo sapiens chromosome 12 open reading frame 60 (C12orf60), mRNA.	79										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						GCAAGACATGACAAAATTCAA	0.373													G	14976105	A	G	14976105	3	3	4	1	0	0	0	0	1	0	0	0	1703	275	10	3	238	3	C12orf60	12	14976105	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	399231	14976105	118875790	2829	4894											
C12orf60	144608	broad.mit.edu	37	chr12	14976279	14976279	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taacatccttgggagtctggAatcttctctttcacacttga	7	10	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:14976279A>G	uc001rcj.4	+	1	614	c.410A>G	c.(409-411)gAa>gGa	p.E137G	C12orf60_uc021qvq.1_Missense_Mutation_p.E137G	NM_175874	NP_787070	Q5U649	CL060_HUMAN	Homo sapiens chromosome 12 open reading frame 60 (C12orf60), mRNA.	137										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						GGGAGTCTGGAATCTTCTCTT	0.413													G	14976279	A	G	14976279	3	3	4	1	0	0	0	0	1	0	0	0	1703	246	9	3	412	3	C12orf60	12	14976279	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	174	14976279	118875616	2830	4895											
C12orf60	144608	broad.mit.edu	37	chr12	14976481	14976481	+	Frame_Shift_Del	DEL	A	A	-													gaggattccaaaaatcccacAaagtcagcagcagatttgtt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:14976480_14976480CA>C	uc001rcj.4	+	1	815	c.611_611CA>C	c.(610-612)acafs	p.T204fs	C12orf60_uc021qvq.1_Frame_Shift_Del_p.T204fs	NM_175874	NP_787070	Q5U649	CL060_HUMAN	Homo sapiens chromosome 12 open reading frame 60 (C12orf60), mRNA.	204										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						AAAAATCCCACAAAGTCAGCA	0.393													-	14976481	A	-	14976481	7	5	4	1	0	1	0	1	0	0	0	0	1703	117	5	0	614	0	C12orf60	12	14976481	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	202	14976481	118875414	2831	4896											
EPS8	2059	broad.mit.edu	37	chr12	15819381	15819381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaatgcttttacctcagggCgtcgggccgcctcttctgtt	10	13	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:15819381C>T	uc009zif.3	-	6	686	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	EPS8_uc001rdb.3_Missense_Mutation_p.A198T|EPS8_uc009zig.3_5'UTR	NM_004447	NP_004438	Q12929	EPS8_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 8 (EPS8), mRNA.	198					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TACCTCAGGGCGTCGGGCCGC	0.393													T	15819381	C	T	15819381	3	4	4	1	0	0	0	0	1	0	0	0	5194	768	27	1	1936	1	EPS8	12	15819381	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	842900	15819381	118032514	2832	4897											
LMO3	55885	broad.mit.edu	37	chr12	16704207	16704207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaaaccttcctcgtagtcCgtctggcaaaggatcatgtt	8	10	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:16704207C>T	uc010shz.2	-	5	678	c.453G>A	c.(451-453)acG>acA	p.T151T	LMO3_uc001rdj.2_Silent_p.T140T|LMO3_uc010shy.2_Silent_p.T147T|LMO3_uc001rdk.2_Silent_p.T129T|LMO3_uc001rdl.2_Silent_p.T129T|LMO3_uc009zii.2_Non-coding_Transcript|LMO3_uc001rdn.2_Silent_p.T129T|LMO3_uc001rdm.2_Silent_p.T129T|LMO3_uc009zij.2_Non-coding_Transcript|LMO3_uc001rdo.2_Non-coding_Transcript|LMO3_uc001rdp.2_Non-coding_Transcript|LMO3_uc009zik.2_Non-coding_Transcript	NM_001243613	NP_001230542	Q8TAP4	LMO3_HUMAN	Homo sapiens LIM domain only 3 (rhombotin-like 2) (LMO3), transcript variant 7, mRNA.	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				CCTCGTAGTCCGTCTGGCAAA	0.348													T	16704207	C	T	16704207	2	4	4	1	0	0	0	0	0	0	0	1	8853	639	23	1		1	LMO3	12	16704207	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	884826	16704207	117147688	2833	4898											
PIK3C2G	5288	broad.mit.edu	37	chr12	18491429	18491429	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggtgtgtggaaaccaaaCaaattacagatgcagtaaat	10	5	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:18491429C>T	uc001rdt.3	+	8	1458	c.1342C>T	c.(1342-1344)Caa>Taa	p.Q448*	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Nonsense_Mutation_p.Q448*|PIK3C2G_uc010sic.2_Nonsense_Mutation_p.Q226*	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	448					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GGAAACCAAACAAATTACAGA	0.308													T	18491429	C	T	18491429	4	4	4	1	0	0	0	0	0	1	0	0	11911	479	17	4	1372	4	PIK3C2G	12	18491429	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1787222	18491429	115360466	2834	4899											
PLEKHA5	54477	broad.mit.edu	37	chr12	19427794	19427794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatcttagaggtggaaatcGccccaatacagggcccttat	10	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:19427794G>A	uc001reb.3	+	9	1280	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H	PLEKHA5_uc010sie.2_Missense_Mutation_p.R397H|PLEKHA5_uc001rea.3_Missense_Mutation_p.R391H|PLEKHA5_uc009zin.3_Missense_Mutation_p.R149H|PLEKHA5_uc010sig.2_Missense_Mutation_p.R283H|PLEKHA5_uc010sih.1_Missense_Mutation_p.R283H|PLEKHA5_uc021qvy.1_Missense_Mutation_p.R283H|PLEKHA5_uc001rec.1_Missense_Mutation_p.R79H	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	391							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GGTGGAAATCGCCCCAATACA	0.473													A	19427794	G	A	19427794	3	1	4	1	0	0	0	0	1	0	0	0	12059	1087	38	1	1210	1	PLEKHA5	12	19427794	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	936365	19427794	114424101	2835	4900											
IAPP	3375	broad.mit.edu	37	chr12	21531352	21531352	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagagccactgaattacttgCccctttagaggacaatgtaa	9	9	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:21531352C>A	uc001rev.3	+	2	414	c.262C>A	c.(262-264)Ccc>Acc	p.P88T	SLCO1A2_uc010siq.2_Intron|SLCO1A2_uc001res.3_Intron	NM_000415	NP_000406	P10997	IAPP_HUMAN	Homo sapiens islet amyloid polypeptide (IAPP), mRNA.	88					apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity			lung(3)	3					Perindopril(DB00790)	GAATTACTTGCCCCTTTAGAG	0.383													A	21531352	C	A	21531352	3	1	4	1	0	0	0	0	1	0	0	0	7472	739	26	5	268	5	IAPP	12	21531352	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2103558	21531352	112320543	2836	4901											
PYROXD1	79912	broad.mit.edu	37	chr12	21614991	21614991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgaaaagatatatggctgCgatttcattgtcagtgctac	9	6	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:21614991C>T	uc001rew.3	+	8	1057	c.930C>T	c.(928-930)tgC>tgT	p.C310C	PYROXD1_uc009ziq.3_Silent_p.C51C	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 1 (PYROXD1), mRNA.	310							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						TATATGGCTGCGATTTCATTG	0.343													T	21614991	C	T	21614991	2	4	4	1	0	0	0	0	0	0	0	1	12866	776	27	1		1	PYROXD1	12	21614991	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	83639	21614991	112236904	2837	4902											
RECQL	5965	broad.mit.edu	37	chr12	21630862	21630862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcagcccaattagtgatgCgttagggaactgccgcttta	11	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:21630862C>T	uc001rex.3	-	7	1090	c.742G>A	c.(742-744)Gca>Aca	p.A248T	RECQL_uc001rey.3_Missense_Mutation_p.A248T	NM_032941	NP_116559	P46063	RECQ1_HUMAN	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.	248	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	p.A248T(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						ATTAGTGATGCGTTAGGGAAC	0.358								Other identified genes with known or suspected DNA repair function					T	21630862	C	T	21630862	3	4	4	1	0	0	0	0	1	0	0	0	13201	768	27	1	1243	1	RECQL	12	21630862	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	15871	21630862	112221033	2838	4903											
ABCC9	10060	broad.mit.edu	37	chr12	22063104	22063104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctacctgaacaggcataGcccatagattaggacacagg	9	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:22063104G>A	uc001rfh.3	-	7	1327	c.1307C>T	c.(1306-1308)gCt>gTt	p.A436V	ABCC9_uc001rfi.1_Missense_Mutation_p.A436V	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	436	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AACAGGCATAGCCCATAGATT	0.378													A	22063104	G	A	22063104	3	1	4	1	0	0	0	0	1	0	0	0	59	971	34	2	3608	2	ABCC9	12	22063104	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	432242	22063104	111788791	2839	4904											
SOX5	6660	broad.mit.edu	37	chr12	23687401	23687401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggcatcccagccatggCgatggctccagggtacacaa	14	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:23687401C>T	uc001rfw.3	-	14	2146	c.2044G>A	c.(2044-2046)Gcc>Acc	p.A682T	SOX5_uc001rfx.3_Missense_Mutation_p.A669T|SOX5_uc001rfy.3_Missense_Mutation_p.A561T|SOX5_uc001rfv.3_Missense_Mutation_p.A296T|SOX5_uc010siv.2_Missense_Mutation_p.A669T	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	682					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.A682T(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CCAGCCATGGCGATGGCTCCA	0.552													T	23687401	C	T	23687401	3	4	4	1	0	0	0	0	1	0	0	0	14954	768	27	1	251	1	SOX5	12	23687401	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1624297	23687401	110164494	2840	4905											
SOX5	6660	broad.mit.edu	37	chr12	23689453	23689453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccttgtattcaccaatgCgcagctttttgccatccacc	6	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:23689453C>T	uc001rfw.3	-	13	2024	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	SOX5_uc001rfx.3_Missense_Mutation_p.R628H|SOX5_uc001rfy.3_Missense_Mutation_p.R520H|SOX5_uc001rfv.3_Missense_Mutation_p.R255H|SOX5_uc010siv.2_Missense_Mutation_p.R628H|SOX5_uc010siw.1_Non-coding_Transcript	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	641					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TTCACCAATGCGCAGCTTTTT	0.517													T	23689453	C	T	23689453	3	4	4	1	0	0	0	0	1	0	0	0	14954	768	27	1	377	1	SOX5	12	23689453	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2052	23689453	110162442	2841	4906											
CASC1	55259	broad.mit.edu	37	chr12	25267782	25267782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaggatacattgctgatGccatcagttctccaatgttt	8	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:25267782G>A	uc001rgk.3	-	12	1501	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	CASC1_uc001rgj.3_Silent_p.G427G|CASC1_uc001rgm.4_Silent_p.G531G|CASC1_uc001rgl.3_Silent_p.G467G|CASC1_uc010sje.2_Silent_p.G408G|CASC1_uc010sjf.2_Silent_p.G355G|CASC1_uc010sjg.1_3'UTR	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	467										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			CATTGCTGATGCCATCAGTTC	0.343													A	25267782	G	A	25267782	2	1	4	1	0	0	0	0	0	0	0	1	2660	1306	46	2		2	CASC1	12	25267782	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1578329	25267782	108584113	2842	4907											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:25398284C>T	uc001rgp.1	-	1	216	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25398284	C	T	25398284	3	4	4	1	0	0	0	0	1	0	0	0	8438	507	18	4	671	4	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	130502	25398284	108453611	2843	4908											
IPO8	10526	broad.mit.edu	37	chr12	30818767	30818767	+	Frame_Shift_Del	DEL	T	T	-													ttgataacagaatgccatcaTttttggcaacacctaaagaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:30818766_30818766AT>A	uc001rjd.3	-	11	1583	c.1235_1235AT>T	c.(1234-1236)atgfs	p.M412fs	IPO8_uc010sjt.2_Frame_Shift_Del_p.M207fs|IPO8_uc001rje.1_5'Flank	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	412					intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAATGCCATCATTTTTGGCAA	0.363													-	30818767	T	-	30818767	7	5	4	1	0	1	0	1	0	0	0	0	7798	1493	52	0	1935	0	IPO8	12	30818767	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	5420483	30818767	103033128	2844	4909											
IPO8	10526	broad.mit.edu	37	chr12	30837276	30837276	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attattccttccacaatgttAtcacgtatttgctggcgatc	6	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:30837276A>G	uc001rjd.3	-	2	630	c.282T>C	c.(280-282)gaT>gaC	p.D94D		NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	94	Importin N-terminal.				intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCACAATGTTATCACGTATTT	0.408													G	30837276	A	G	30837276	2	3	4	1	0	0	0	0	0	0	0	1	7798	446	16	3		3	IPO8	12	30837276	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	18509	30837276	103014619	2845	4910											
TSPAN11	441631	broad.mit.edu	37	chr12	31116918	31116918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcttcctgggcttcggtgCcatcctctgggagcggaagg	16	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:31116918C>T	uc010sju.2	+	2	622	c.242C>T	c.(241-243)gCc>gTc	p.A81V	TSPAN11_uc001rjp.3_Missense_Mutation_p.A81V|TSPAN11_uc010sjv.2_Missense_Mutation_p.A71V	NM_001080509	NP_001073978	A1L157	TSN11_HUMAN	Homo sapiens tetraspanin 11 (TSPAN11), mRNA.	81						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGCTTCGGTGCCATCCTCTGG	0.642													T	31116918	C	T	31116918	3	4	4	1	0	0	0	0	1	0	0	0	16632	739	26	2	248	2	TSPAN11	12	31116918	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	279642	31116918	102734977	2846	4911											
YARS2	51067	broad.mit.edu	37	chr12	32902887	32902887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaccctcggggaccatctgGaatggcatttgctttgcggc	12	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:32902887G>A	uc001rli.3	-	3	1337	c.1258C>T	c.(1258-1260)Cca>Tca	p.P420S		NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN	Homo sapiens tyrosyl-tRNA synthetase 2, mitochondrial (YARS2), nuclear gene encoding mitochondrial protein, mRNA.	420					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|RNA binding|protein binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GGACCATCTGGAATGGCATTT	0.393													A	32902887	G	A	32902887	3	1	4	1	0	0	0	0	1	0	0	0	17465	1174	41	4	183	4	YARS2	12	32902887	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1785969	32902887	100949008	2847	4912											
ALG10	84920	broad.mit.edu	37	chr12	34179326	34179326	+	Frame_Shift_Del	DEL	T	T	-													actttttttcatttactctcTttttttcctttcctcatctc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:34179325_34179325CT>C	uc001rlm.3	+	2	1216	c.897_897CT>C	c.(895-897)ctcfs	p.L299fs		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) (ALG10), mRNA.	299					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	p.L299F(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CATTTACTCTCTTTTTTTCCT	0.348													-	34179326	T	-	34179326	7	5	4	1	0	1	0	1	0	0	0	0	511	1609	56	0	908	0	ALG10	12	34179326	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	1276439	34179326	99672569	2848	4913											
ALG10B	144245	broad.mit.edu	37	chr12	38714473	38714473	+	Frame_Shift_Del	DEL	T	T	-													attttcctcaactattctacTttttttcatttactctcttt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:38714472_38714472CT>C	uc001rln.4	+	2	1018	c.879_879CT>C	c.(877-879)tacfs	p.Y293fs		NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA.	293					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AACTATTCTACTTTTTTTCAT	0.343													-	38714473	T	-	38714473	7	5	4	1	0	1	0	1	0	0	0	0	512	1609	56	0	890	0	ALG10B	12	38714473	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	4535147	38714473	95137422	2849	4914											
KIF21A	55605	broad.mit.edu	37	chr12	39716590	39716590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaacaggtgtgagagggCcaggcaaggaggcatctcct	15	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:39716590C>T	uc001rly.3	-	26	3971	c.3551G>A	c.(3550-3552)gGc>gAc	p.G1184D	KIF21A_uc001rlv.3_Missense_Mutation_p.G189D|KIF21A_uc001rlw.3_Missense_Mutation_p.G501D|KIF21A_uc001rlx.3_Missense_Mutation_p.G1171D|KIF21A_uc001rlz.3_Missense_Mutation_p.G1148D|KIF21A_uc010skl.2_Missense_Mutation_p.G1164D	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	1184					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGTGAGAGGGCCAGGCAAGGA	0.507													T	39716590	C	T	39716590	3	4	4	1	0	0	0	0	1	0	0	0	8288	739	26	2	1521	2	KIF21A	12	39716590	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1002117	39716590	94135305	2850	4915											
KIF21A	55605	broad.mit.edu	37	chr12	39726490	39726490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggagctgccacttcatgCgagctgtcttggaaataaac	10	10	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:39726490C>T	uc001rly.3	-	19	3179	c.2759G>A	c.(2758-2760)cGc>cAc	p.R920H	KIF21A_uc001rlv.3_5'Flank|KIF21A_uc001rlw.3_Missense_Mutation_p.R237H|KIF21A_uc001rlx.3_Missense_Mutation_p.R907H|KIF21A_uc001rlz.3_Missense_Mutation_p.R884H|KIF21A_uc010skl.2_Missense_Mutation_p.R907H	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	920					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCACTTCATGCGAGCTGTCTT	0.423													T	39726490	C	T	39726490	3	4	4	1	0	0	0	0	1	0	0	0	8288	768	27	1	2341	1	KIF21A	12	39726490	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	9900	39726490	94125405	2851	4916											
CNTN1	1272	broad.mit.edu	37	chr12	41410609	41410609	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggccgatatgtccataaAgatgaaaccatgagcccttc	8	11	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:41410609A>G	uc001rmm.1	+	18	2423	c.2310A>G	c.(2308-2310)aaA>aaG	p.K770K	CNTN1_uc001rmn.1_Silent_p.K759K	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	770	Fibronectin type-III 2.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ATGTCCATAAAGATGAAACCA	0.398													G	41410609	A	G	41410609	2	3	4	1	0	0	0	0	0	0	0	1	3640	69	3	3		3	CNTN1	12	41410609	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1684119	41410609	92441286	2852	4917											
PDZRN4	29951	broad.mit.edu	37	chr12	41966851	41966851	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgtagaccgttcccctgAcagttcccttccaagggtga	9	14	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:41966851A>G	uc010skn.2	+	9	2278	c.2270A>G	c.(2269-2271)gAc>gGc	p.D757G	PDZRN4_uc001rmq.4_Missense_Mutation_p.D499G|PDZRN4_uc009zjz.3_Missense_Mutation_p.D497G|PDZRN4_uc001rmr.3_Missense_Mutation_p.D384G	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	757							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CGTTCCCCTGACAGTTCCCTT	0.502													G	41966851	A	G	41966851	3	3	4	1	0	0	0	0	1	0	0	0	11710	275	10	3	2381	3	PDZRN4	12	41966851	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	556242	41966851	91885044	2853	4918											
PDZRN4	29951	broad.mit.edu	37	chr12	41967300	41967300	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcacaaagagacccgtgCgagaccgaatcctgaaggaa	10	11	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:41967300C>T	uc010skn.2	+	9	2727	c.2719C>T	c.(2719-2721)Cga>Tga	p.R907*	PDZRN4_uc001rmq.4_Nonsense_Mutation_p.R649*|PDZRN4_uc009zjz.3_Nonsense_Mutation_p.R647*|PDZRN4_uc001rmr.3_Nonsense_Mutation_p.R534*	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	907							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAGACCCGTGCGAGACCGAAT	0.517													T	41967300	C	T	41967300	4	4	4	1	0	0	0	0	0	1	0	0	11710	760	27	1	2830	1	PDZRN4	12	41967300	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	449	41967300	91884595	2854	4919											
PRICKLE1	144165	broad.mit.edu	37	chr12	42858589	42858589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacttgaggaggagctgcGtcatataatcttcatgatca	9	8	4	2	rs151332996	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:42858589G>A	uc010skv.2	-	6	1534	c.1247C>T	c.(1246-1248)aCg>aTg	p.T416M	PRICKLE1_uc001rnl.3_Missense_Mutation_p.T416M|PRICKLE1_uc010skw.2_Missense_Mutation_p.T416M|PRICKLE1_uc001rnm.3_Missense_Mutation_p.T416M	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	416					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GAGGAGCTGCGTCATATAATC	0.448													A	42858589	G	A	42858589	3	1	4	1	0	0	0	0	1	0	0	0	12486	1145	40	1	1256	1	PRICKLE1	12	42858589	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	891289	42858589	90993306	2855	4920											
PRICKLE1	144165	broad.mit.edu	37	chr12	42858777	42858777	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttgtagttcagagcaggCgataagaggagagactgtct	13	6	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:42858777C>T	uc010skv.2	-	6	1346	c.1059G>A	c.(1057-1059)tcG>tcA	p.S353S	PRICKLE1_uc001rnl.3_Silent_p.S353S|PRICKLE1_uc010skw.2_Silent_p.S353S|PRICKLE1_uc001rnm.3_Silent_p.S353S	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	353					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TCAGAGCAGGCGATAAGAGGA	0.498													T	42858777	C	T	42858777	2	4	4	1	0	0	0	0	0	0	0	1	12486	755	27	1		1	PRICKLE1	12	42858777	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	188	42858777	90993118	2856	4921											
PRICKLE1	144165	broad.mit.edu	37	chr12	42860064	42860064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagccacagcagaaggggCggccgtccttcatgatatac	11	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:42860064C>T	uc010skv.2	-	5	994	c.707G>A	c.(706-708)cGc>cAc	p.R236H	PRICKLE1_uc001rnl.3_Missense_Mutation_p.R236H|PRICKLE1_uc010skw.2_Missense_Mutation_p.R236H|PRICKLE1_uc001rnm.3_Missense_Mutation_p.R236H	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	236	LIM zinc-binding 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	p.R236C(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GCAGAAGGGGCGGCCGTCCTT	0.542													T	42860064	C	T	42860064	3	4	4	1	0	0	0	0	1	0	0	0	12486	768	27	1	1800	1	PRICKLE1	12	42860064	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1287	42860064	90991831	2857	4922											
ADAMTS20	80070	broad.mit.edu	37	chr12	43826209	43826209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattgtcagcaagacgatgGccaaagttattcatacaata	7	8	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:43826209G>A	uc010skx.2	-	20	2994	c.2994C>T	c.(2992-2994)ggC>ggT	p.G998G	ADAMTS20_uc001rno.1_Silent_p.G152G|ADAMTS20_uc001rnp.1_Silent_p.G152G	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	998	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CAAGACGATGGCCAAAGTTAT	0.423													A	43826209	G	A	43826209	2	1	4	1	0	0	0	0	0	0	0	1	266	1190	42	2		2	ADAMTS20	12	43826209	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	966145	43826209	90025686	2858	4923											
ADAMTS20	80070	broad.mit.edu	37	chr12	43944883	43944883	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagaaaggatgcatcggcGgtcaggttcagctggaagag	16	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:43944883G>A	uc010skx.2	-	1	282	c.282C>T	c.(280-282)acC>acT	p.T94T		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	94						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATGCATCGGCGGTCAGGTTCA	0.677													A	43944883	G	A	43944883	2	1	4	1	0	0	0	0	0	0	0	1	266	1103	39	1		1	ADAMTS20	12	43944883	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	118674	43944883	89907012	2859	4924											
PUS7L	83448	broad.mit.edu	37	chr12	44130389	44130389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctcggtcatgccaaagCggtgcaatgcctccaacaat	8	14	1	0	rs143825055		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:44130389C>T	uc001rns.4	-	6	1600	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	PUS7L_uc001rnq.4_Missense_Mutation_p.R507H|PUS7L_uc001rnr.4_Missense_Mutation_p.R507H|PUS7L_uc009zkb.3_Missense_Mutation_p.R194H	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	507	TRUD.				pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		CATGCCAAAGCGGTGCAATGC	0.443													T	44130389	C	T	44130389	3	4	4	1	0	0	0	0	1	0	0	0	12834	768	27	1	597	1	PUS7L	12	44130389	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	185506	44130389	89721506	2860	4925											
NELL2	4753	broad.mit.edu	37	chr12	44926433	44926433	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctctgcactcacagtggtAccatccaggcaggttaatgc	9	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:44926433A>G	uc010skz.1	-	16	2010	c.1885T>C	c.(1885-1887)Tac>Cac	p.Y629H	NELL2_uc001rof.3_Missense_Mutation_p.Y578H|NELL2_uc001rog.2_Missense_Mutation_p.Y579H|NELL2_uc001roh.2_Missense_Mutation_p.Y579H|NELL2_uc009zkd.2_Intron|NELL2_uc010sla.1_Missense_Mutation_p.Y602H|NELL2_uc001roi.1_Missense_Mutation_p.Y579H|NELL2_uc010slb.1_Missense_Mutation_p.Y578H	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	579	EGF-like 6; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TCACAGTGGTACCATCCAGGC	0.413													G	44926433	A	G	44926433	3	3	4	1	0	0	0	0	1	0	0	0	10334	391	14	3	735	3	NELL2	12	44926433	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	796044	44926433	88925462	2861	4926											
ANO6	196527	broad.mit.edu	37	chr12	45822925	45822925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatttttcatttcatatgCaattcccgatgtatcaaaac	4	8	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:45822925C>T	uc010slf.2	+	20	2962	c.2627C>T	c.(2626-2628)gCa>gTa	p.A876V	ANO6_uc001roo.3_Missense_Mutation_p.A855V|ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slg.2_Missense_Mutation_p.A837V	NM_001204803	NP_001191732	Q4KMQ2	ANO6_HUMAN	Homo sapiens anoctamin 6 (ANO6), transcript variant 5, mRNA.	855					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATTTCATATGCAATTCCCGAT	0.388													T	45822925	C	T	45822925	3	4	4	1	0	0	0	0	1	0	0	0	701	710	25	2	2662	2	ANO6	12	45822925	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	896492	45822925	88028970	2862	4927											
ARID2	196528	broad.mit.edu	37	chr12	46246417	46246417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctatcatctgacgttcGgtctacaaatggcacagcag	9	12	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:46246417G>A	uc001ros.1	+	14	4511	c.4511G>A	c.(4510-4512)cGg>cAg	p.R1504Q	ARID2_uc001ror.3_Missense_Mutation_p.R1504Q|ARID2_uc009zkg.1_Missense_Mutation_p.R960Q|ARID2_uc009zkh.1_Missense_Mutation_p.R1131Q|ARID2_uc001rou.1_Missense_Mutation_p.R838Q	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1504					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTGACGTTCGGTCTACAAAT	0.443			"N, S, F"		hepatocellular carcinoma								A	46246417	G	A	46246417	3	1	4	1	0	0	0	0	1	0	0	0	915	1116	39	1	4569	1	ARID2	12	46246417	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	423492	46246417	87605478	2863	4928											
SLC38A1	81539	broad.mit.edu	37	chr12	46598370	46598370	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccactagtatagccaagaTaccctttaaaaaaaagtaaa	4	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:46598370T>C	uc009zkj.1	-	9	1335	c.650A>G	c.(649-651)tAt>tGt	p.Y217C	SLC38A1_uc001rpb.3_Missense_Mutation_p.Y217C|SLC38A1_uc001rpc.3_Missense_Mutation_p.Y217C|SLC38A1_uc001rpd.3_Missense_Mutation_p.Y217C|SLC38A1_uc001rpe.3_Missense_Mutation_p.Y217C|SLC38A1_uc010slh.2_Missense_Mutation_p.Y190C|SLC38A1_uc001rpa.3_Missense_Mutation_p.Y217C	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	217					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ATAGCCAAGATACCCtttaaa	0.284													C	46598370	T	C	46598370	3	2	4	1	0	0	0	0	1	0	0	0	14601	1406	49	3	845	3	SLC38A1	12	46598370	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	351953	46598370	87253525	2864	4929											
SLC38A1	81539	broad.mit.edu	37	chr12	46602891	46602891	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaatatatagacagcaatgTcactgaagtcaaaagtaccc	7	8	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:46602891T>C	uc009zkj.1	-	5	1019	c.334A>G	c.(334-336)Aca>Gca	p.T112A	SLC38A1_uc001rpb.3_Missense_Mutation_p.T112A|SLC38A1_uc001rpc.3_Missense_Mutation_p.T112A|SLC38A1_uc001rpd.3_Missense_Mutation_p.T112A|SLC38A1_uc001rpe.3_Missense_Mutation_p.T112A|SLC38A1_uc010slh.2_Missense_Mutation_p.T85A|SLC38A1_uc001rpa.3_Missense_Mutation_p.T112A	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	112					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			GACAGCAATGTCACTGAAGTC	0.318													C	46602891	T	C	46602891	3	2	4	1	0	0	0	0	1	0	0	0	14601	1667	58	3	1177	3	SLC38A1	12	46602891	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	4521	46602891	87249004	2865	4930											
SLC38A2	54407	broad.mit.edu	37	chr12	46758342	46758342	+	Splice_Site	DEL	A	A	-													aaatttcttgcaaatgacctAaaaatatattattttgcatg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:46758341_46758341TA>T	uc001rpg.3	-	10	1146	c.706_splice	c.e10-1	p.V236_splice	SLC38A2_uc010sli.2_Splice_Site_p.V74_splice|SLC38A2_uc001rph.3_Splice_Site_p.V136_splice	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	Homo sapiens solute carrier family 38, member 2 (SLC38A2), mRNA.	236					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		GCAAATGACCTAAAAATATAT	0.333													-	46758342	A	-	46758342	8	5	4	1	0	1	0	1	0	0	1	0	14604	377	13	0		0	SLC38A2	12	46758342	Splice_Site	DEL	A	TCGA-BR-4184-01A-01D-1126-08	155451	46758342	87093553	2866	4931											
SLC38A4	55089	broad.mit.edu	37	chr12	47170771	47170771	+	Frame_Shift_Del	DEL	T	T	-													aatatttgacaccgtttgcaTttttctccgggaccgactgg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:47170770_47170770AT>A	uc001rpi.2	-	12	1490	c.1091_1091AT>T	c.(1090-1092)atgfs	p.M364fs	SLC38A4_uc001rpj.2_Frame_Shift_Del_p.M364fs	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	364					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CACCGTTTGCATTTTTCTCCG	0.368													-	47170771	T	-	47170771	7	5	4	1	0	1	0	1	0	0	0	0	14606	1493	52	0	573	0	SLC38A4	12	47170771	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	412429	47170771	86681124	2867	4932											
RPAP3	79657	broad.mit.edu	37	chr12	48073291	48073291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacagttgatccaggatgCggtggattatcaatgggttt	12	6	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:48073291C>T	uc001rpr.3	-	11	1388	c.1272G>A	c.(1270-1272)ccG>ccA	p.P424P	RPAP3_uc010slk.2_Silent_p.P265P|RPAP3_uc001rps.3_Intron	NM_024604	NP_001139548	Q9H6T3	RPAP3_HUMAN	Homo sapiens RNA polymerase II associated protein 3 (RPAP3), transcript variant 1, mRNA.	424							binding	p.P424L(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					ATCCAGGATGCGGTGGATTAT	0.323													T	48073291	C	T	48073291	2	4	4	1	0	0	0	0	0	0	0	1	13543	755	27	1		1	RPAP3	12	48073291	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	902520	48073291	85778604	2868	4933											
HDAC7	51564	broad.mit.edu	37	chr12	48188645	48188645	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacctggcccggtcccccGccatctgtctccaggtcttc	8	20	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:48188645G>A	uc010slo.2	-	11	1551	c.1356C>T	c.(1354-1356)ggC>ggT	p.G452G	HDAC7_uc001rqe.3_5'Flank|HDAC7_uc001rqj.4_Silent_p.G415G|HDAC7_uc001rqk.4_Silent_p.G435G	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.	413	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CCGGTCCCCCGCCATCTGTCT	0.687													A	48188645	G	A	48188645	2	1	4	1	0	0	0	0	0	0	0	1	7012	1074	38	1		1	HDAC7	12	48188645	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	115354	48188645	85663250	2869	4934											
VDR	7421	broad.mit.edu	37	chr12	48240547	48240547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacatgatgacctcaatgGcacttgacttcagcagtacg	9	11	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:48240547G>A	uc001rql.3	-	7	1351	c.950C>T	c.(949-951)gCc>gTc	p.A317V	VDR_uc001rqm.3_Missense_Mutation_p.A267V|VDR_uc001rqn.3_Missense_Mutation_p.A267V|VDR_uc010slq.2_Missense_Mutation_p.A235V	NM_001017536	NP_001017536	P11473	VDR_HUMAN	Homo sapiens vitamin D (1,25- dihydroxyvitamin D3) receptor (VDR), transcript variant 3, mRNA.	267	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GACCTCAATGGCACTTGACTT	0.547													A	48240547	G	A	48240547	3	1	4	1	0	0	0	0	1	0	0	0	17146	1203	42	2	495	2	VDR	12	48240547	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	51902	48240547	85611348	2870	4935											
TMEM106C	79022	broad.mit.edu	37	chr12	48361942	48361942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgaagatttcatacattgGcctcatgacccagagctcct	8	11	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:48361942G>A	uc001rqp.3	+	7	798	c.683G>A	c.(682-684)gGc>gAc	p.G228D	TMEM106C_uc001rqo.3_Missense_Mutation_p.G209D|TMEM106C_uc001rqr.3_Missense_Mutation_p.G228D|TMEM106C_uc001rqq.3_Missense_Mutation_p.G209D	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN	Homo sapiens transmembrane protein 106C (TMEM106C), transcript variant 2, mRNA.	228						endoplasmic reticulum membrane|integral to membrane		p.G228>?(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TCATACATTGGCCTCATGACC	0.413													A	48361942	G	A	48361942	3	1	4	1	0	0	0	0	1	0	0	0	16019	1203	42	2	709	2	TMEM106C	12	48361942	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	121395	48361942	85489953	2871	4936											
COL2A1	1280	broad.mit.edu	37	chr12	48369182	48369182	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccctcggggctgcggatGctctcaatctggttgttgag	15	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:48369182G>A	uc001rqu.3	-	50	3985	c.3804C>T	c.(3802-3804)agC>agT	p.S1268S	COL2A1_uc001rqt.3_Silent_p.S49S|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Silent_p.S1199S	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	1268	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGCTGCGGATGCTCTCAATCT	0.617													A	48369182	G	A	48369182	2	1	4	1	0	0	0	0	0	0	0	1	3687	1310	46	2		2	COL2A1	12	48369182	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	7240	48369182	85482713	2872	4937											
SENP1	29843	broad.mit.edu	37	chr12	48477397	48477397	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgctgtactaacatgtcGcctctgagttttcttggggc	10	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:48477397G>A	uc001rqx.3	-	5	975	c.529C>T	c.(529-531)Cga>Tga	p.R177*	SENP1_uc001rqw.3_Nonsense_Mutation_p.R177*|SENP1_uc001rqy.3_5'UTR|SENP1_uc001rqz.3_5'UTR|SENP1_uc009zkx.3_Nonsense_Mutation_p.R177*	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA.	177					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	SUMO-specific protease activity|endopeptidase activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				CTAACATGTCGCCTCTGAGTT	0.398													A	48477397	G	A	48477397	4	1	4	1	0	0	0	0	0	1	0	0	14046	1095	38	1	1454	1	SENP1	12	48477397	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	108215	48477397	85374498	2873	4938											
PFKM	5213	broad.mit.edu	37	chr12	48534513	48534513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctgtatagagtggttcGcacacagtggctgtgatgaa	12	9	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:48534513G>A	uc001rrb.2	+	15	1687	c.1413G>A	c.(1411-1413)tcG>tcA	p.S471S	PFKM_uc001rra.2_Silent_p.S85S|PFKM_uc001rrc.3_Silent_p.S400S|PFKM_uc001rrd.3_Silent_p.S85S|PFKM_uc001rre.2_Silent_p.S400S|PFKM_uc021qxj.1_Silent_p.S400S|PFKM_uc001rrg.2_Silent_p.S369S	NM_001166686	NP_001160160	P08237	K6PF_HUMAN	Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA.	400					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	p.R471S(1)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AGAGTGGTTCGCACACAGTGG	0.567													A	48534513	G	A	48534513	2	1	4	1	0	0	0	0	0	0	0	1	11765	1074	38	1		1	PFKM	12	48534513	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	57116	48534513	85317382	2874	4939											
ASB8	140461	broad.mit.edu	37	chr12	48543596	48543596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcattgacagaggccccGctctctaggagagcccgcac	13	14	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:48543596G>A	uc001rrh.3	-	3	589	c.420C>T	c.(418-420)agC>agT	p.S140S	ASB8_uc010slr.2_Silent_p.S140S	NM_024095	NP_077000	Q9H765	ASB8_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 8 (ASB8), mRNA.	140					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						CAGAGGCCCCGCTCTCTAGGA	0.517													A	48543596	G	A	48543596	2	1	4	1	0	0	0	0	0	0	0	1	1029	1078	38	1		1	ASB8	12	48543596	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	9083	48543596	85308299	2875	4940											
ANP32D	23519	broad.mit.edu	37	chr12	48866816	48866816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttagaccttttcacttgCgaggtaaccaacctgaacaa	7	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:48866816C>T	uc010slt.2	+	0	369	c.369C>T	c.(367-369)tgC>tgT	p.C123C		NM_012404	NP_036536	O95626	AN32D_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member D (ANP32D), mRNA.	123										central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TTTTCACTTGCGAGGTAACCA	0.438													T	48866816	C	T	48866816	2	4	4	1	0	0	0	0	0	0	0	1	708	776	27	1		1	ANP32D	12	48866816	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	323220	48866816	84985079	2876	4941											
CCNT1	904	broad.mit.edu	37	chr12	49087682	49087682	+	Frame_Shift_Del	DEL	T	T	-													ttctgaaccctctatgggcaTttttagaatgactgaagaat							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:49087681_49087681AT>A	uc001rsd.4	-	8	1639	c.1316_1316AT>T	c.(1315-1317)atgfs	p.M439fs	CCNT1_uc009zkz.2_Frame_Shift_Del_p.M154fs|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	439					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CTCTATGGGCATTTTTAGAAT	0.448													-	49087682	T	-	49087682	7	5	4	1	0	1	0	1	0	0	0	0	2934	1493	52	0	869	0	CCNT1	12	49087682	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	220866	49087682	84764213	2877	4942											
DDX23	9416	broad.mit.edu	37	chr12	49227064	49227064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaagcagccttacttggCggtacttatgttttcccgac	11	10	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:49227064C>T	uc001rsm.3	-	12	1890	c.1799G>A	c.(1798-1800)cGc>cAc	p.R600H		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA.	600	Helicase ATP-binding.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.R600S(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CCTTACTTGGCGGTACTTATG	0.567													T	49227064	C	T	49227064	3	4	4	1	0	0	0	0	1	0	0	0	4350	768	27	1	683	1	DDX23	12	49227064	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	139382	49227064	84624831	2878	4943											
PRKAG1	5571	broad.mit.edu	37	chr12	49397360	49397360	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgataacatcaaacttggagTagatgtccaccacacgccct	7	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:49397360T>C	uc001rsy.3	-	9	828	c.722A>G	c.(721-723)tAc>tGc	p.Y241C	PRKAG1_uc010smd.2_Missense_Mutation_p.Y209C|PRKAG1_uc001rsz.3_Missense_Mutation_p.Y250C	NM_002733	NP_001193639	P54619	AAKG1_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 1 non-catalytic subunit (PRKAG1), transcript variant 1, mRNA.	241	CBS 3.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						AAACTTGGAGTAGATGTCCAC	0.547													C	49397360	T	C	49397360	3	2	4	1	0	0	0	0	1	0	0	0	12500	1638	57	3	285	3	PRKAG1	12	49397360	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	170296	49397360	84454535	2879	4944											
TROAP	10024	broad.mit.edu	37	chr12	49719532	49719532	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctgttggtgtcccagggTgttcgggcctctgcatattt	12	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:49719532T>C	uc009zlh.3	+	4	665	c.498T>C	c.(496-498)ggT>ggC	p.G166G	TROAP_uc001rtx.4_Silent_p.G166G	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	166					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGTCCCAGGGTGTTCGGGCCT	0.627													C	49719532	T	C	49719532	2	2	4	1	0	0	0	0	0	0	0	1	16572	1683	59	3		3	TROAP	12	49719532	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	322172	49719532	84132363	2880	4945											
TROAP	10024	broad.mit.edu	37	chr12	49722962	49722962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacctcatattcagtgttgCggcgtctcaccgttcaacct	8	13	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:49722962C>T	uc009zlh.3	+	9	1206	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	TROAP_uc001rtx.4_Missense_Mutation_p.R347W	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	347					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TTCAGTGTTGCGGCGTCTCAC	0.567													T	49722962	C	T	49722962	3	4	4	1	0	0	0	0	1	0	0	0	16572	759	27	1	1175	1	TROAP	12	49722962	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3430	49722962	84128933	2881	4946											
MCRS1	10445	broad.mit.edu	37	chr12	49952676	49952676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggagccacagagcaccgGccgtccatcgatgtagatgg	13	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:49952676G>A	uc001rui.1	-	12	1291	c.1291C>T	c.(1291-1293)Ccg>Tcg	p.P431S	MCRS1_uc001ruj.2_Missense_Mutation_p.P405S|MCRS1_uc001ruk.1_Missense_Mutation_p.P418S|MCRS1_uc009zlj.1_Missense_Mutation_p.P227S	NM_001012300	NP_001012300	Q96EZ8	MCRS1_HUMAN	Homo sapiens microspherule protein 1 (MCRS1), transcript variant 2, mRNA.	418					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex|cytoplasm|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CAGAGCACCGGCCGTCCATCG	0.557													A	49952676	G	A	49952676	3	1	4	1	0	0	0	0	1	0	0	0	9399	1203	42	2	144	2	MCRS1	12	49952676	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	229714	49952676	83899219	2882	4947											
FAM186B	84070	broad.mit.edu	37	chr12	49994713	49994713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggttctccaccacagtgGccatgtacctgatggccctg	11	13	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:49994713G>A	uc001ruo.3	-	3	883	c.710C>T	c.(709-711)gCc>gTc	p.A237V	FAM186B_uc010smk.2_Missense_Mutation_p.A147V	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	Homo sapiens family with sequence similarity 186, member B (FAM186B), transcript variant 1, mRNA.	237						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACCACAGTGGCCATGTACCT	0.562													A	49994713	G	A	49994713	3	1	4	1	0	0	0	0	1	0	0	0	5512	1203	42	2	1987	2	FAM186B	12	49994713	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	42037	49994713	83857182	2883	4948											
FMNL3	91010	broad.mit.edu	37	chr12	50043299	50043299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacttgacggaagcggacGccgcaatgatggcattgagt	14	8	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:50043299G>A	uc001ruv.1	-	18	2492	c.2258C>T	c.(2257-2259)gCg>gTg	p.A753V	FMNL3_uc001ruw.1_Missense_Mutation_p.A702V|FMNL3_uc001rut.1_Missense_Mutation_p.A319V|FMNL3_uc001ruu.1_Missense_Mutation_p.A603V	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA.	753	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GGAAGCGGACGCCGCAATGAT	0.542													A	50043299	G	A	50043299	3	1	4	1	0	0	0	0	1	0	0	0	5953	1087	38	1	857	1	FMNL3	12	50043299	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	48586	50043299	83808596	2884	4949											
AQP6	363	broad.mit.edu	37	chr12	50367132	50367132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctccgtgctacagattgCcatcaccttcaacctggtca	6	16	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:50367132C>T	uc001rvr.1	+	0	869	c.176C>T	c.(175-177)gCc>gTc	p.A59V	AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_Non-coding_Transcript	NM_001652	NP_001643	Q13520	AQP6_HUMAN	Homo sapiens aquaporin 6, kidney specific (AQP6), mRNA.	59					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity	p.A59A(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CTACAGATTGCCATCACCTTC	0.642													T	50367132	C	T	50367132	3	4	4	1	0	0	0	0	1	0	0	0	830	739	26	2	178	2	AQP6	12	50367132	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	323833	50367132	83484763	2885	4950											
LIMA1	51474	broad.mit.edu	37	chr12	50594644	50594644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttatgaattttgatttcGccaccactggctttcagctc	6	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:50594644G>A	uc001rwj.4	-	6	1062	c.888C>T	c.(886-888)ggC>ggT	p.G296G	LIMA1_uc001rwg.4_5'UTR|LIMA1_uc001rwh.4_Silent_p.G136G|LIMA1_uc001rwi.4_Silent_p.G136G|LIMA1_uc001rwk.4_Silent_p.G296G|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	296					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	p.G296G(2)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TTTTGATTTCGCCACCACTGG	0.383													A	50594644	G	A	50594644	2	1	4	1	0	0	0	0	0	0	0	1	8796	1074	38	1		1	LIMA1	12	50594644	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	227512	50594644	83257251	2886	4951											
LARP4	113251	broad.mit.edu	37	chr12	50856385	50856385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagaactctcttcagaggtcGaagacgacgagaagatgaca	12	8	2	6			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:50856385G>A	uc001rwp.2	+	11	1557	c.1355G>A	c.(1354-1356)cGa>cAa	p.R452Q	LARP4_uc001rwq.2_Missense_Mutation_p.R381Q|LARP4_uc001rwt.2_Missense_Mutation_p.R310Q|LARP4_uc001rws.2_Missense_Mutation_p.R451Q|LARP4_uc001rwr.2_Missense_Mutation_p.R381Q|LARP4_uc021qxv.1_Missense_Mutation_p.R382Q|LARP4_uc009zlr.1_Missense_Mutation_p.R271Q	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	452							RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TTCAGAGGTCGAAGACGACGA	0.383													A	50856385	G	A	50856385	3	1	4	1	0	0	0	0	1	0	0	0	8630	1058	37	1	1405	1	LARP4	12	50856385	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	261741	50856385	82995510	2887	4952											
DIP2B	57609	broad.mit.edu	37	chr12	51128878	51128878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtctcgtggaacgtggcGcccctcagagtttgcttctc	11	13	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:51128878G>A	uc001rwv.3	+	33	4222	c.4066G>A	c.(4066-4068)Gcc>Acc	p.A1356T	DIP2B_uc009zlt.3_Missense_Mutation_p.A786T	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	1356						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GGAACGTGGCGCCCCTCAGAG	0.493											OREG0021816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	51128878	G	A	51128878	3	1	4	1	0	0	0	0	1	0	0	0	4528	1087	38	1	4200	1	DIP2B	12	51128878	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	272493	51128878	82723017	2888	4953											
DIP2B	57609	broad.mit.edu	37	chr12	51138606	51138606	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagttagaccccatctacgTggcttataacatgtaaccag	7	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:51138606T>C	uc001rwv.3	+	37	4871	c.4715T>C	c.(4714-4716)gTg>gCg	p.V1572A	DIP2B_uc009zlt.3_Missense_Mutation_p.V1002A	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	1572						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CCCATCTACGTGGCTTATAAC	0.522													C	51138606	T	C	51138606	3	2	4	1	0	0	0	0	1	0	0	0	4528	1696	59	3	4865	3	DIP2B	12	51138606	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	9728	51138606	82713289	2889	4954											
DAZAP2	9802	broad.mit.edu	37	chr12	51636174	51636174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcatgcagggagccaacGtcctcgtaactcagcggaag	12	12	2	0	rs144235964		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:51636174G>A	uc010snd.2	+	3	546	c.362G>A	c.(361-363)cGt>cAt	p.R121H	DAZAP2_uc021qxy.1_Missense_Mutation_p.V125I|DAZAP2_uc010snc.2_Missense_Mutation_p.V65I|DAZAP2_uc001ryb.3_Missense_Mutation_p.V147I|DAZAP2_uc010sne.2_Missense_Mutation_p.V115I|DAZAP2_uc010snf.1_Intron	NM_001136266	NP_001129738	Q15038	DAZP2_HUMAN	Homo sapiens DAZ associated protein 2 (DAZAP2), transcript variant 3, mRNA.	17	Pro-rich.						WW domain binding			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						GGGAGCCAACGTCCTCGTAAC	0.562													A	51636174	G	A	51636174	3	1	4	1	0	0	0	0	1	0	0	0	4245	1145	40	1	453	1	DAZAP2	12	51636174	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	497568	51636174	82215721	2890	4955											
BIN2	51411	broad.mit.edu	37	chr12	51693445	51693445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcactgcctccaggtgGtgtcgggcactgtcatagtc	12	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:51693445G>A	uc001ryg.3	-	5	514	c.462C>T	c.(460-462)caC>caT	p.H154H	BIN2_uc009zlz.3_Silent_p.H122H|BIN2_uc001ryh.3_Silent_p.H30H|BIN2_uc010sng.2_Silent_p.H128H	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	154	BAR.					cytoplasm	protein binding	p.R153R(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCTCCAGGTGGTGTCGGGCAC	0.488													A	51693445	G	A	51693445	2	1	4	1	0	0	0	0	0	0	0	1	1433	1252	44	4		4	BIN2	12	51693445	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	57271	51693445	82158450	2891	4956											
GALNT6	11226	broad.mit.edu	37	chr12	51757930	51757930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtaggtttcatccttgcGcctctgcttctcatgtggag	13	10	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:51757930G>A	uc001ryk.2	-	4	1249	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.R342C	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	342					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCATCCTTGCGCCTCTGCTTC	0.597													A	51757930	G	A	51757930	3	1	4	1	0	0	0	0	1	0	0	0	6217	1087	38	1	872	1	GALNT6	12	51757930	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	64485	51757930	82093965	2892	4957											
GALNT6	11226	broad.mit.edu	37	chr12	51773457	51773459	+	In_Frame_Del	DEL	CCT	CCT	-													cagccacggcttctctgtggCctcctctctgctgctcacat							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:51773456_51773458GCCT>G	uc001ryk.2	-	1	333_335	c.108_110AGGC>C	c.(106-111)gaggcc>gaCc	p.36_37EA>D	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_In_Frame_Del_p.36_37EA>D|GALNT6_uc010snh.1_In_Frame_Del_p.36_37EA>D	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	36					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTTCTCTGTGGCCTCCTCTCTGC	0.601													-	51773459	CCT	-	51773457	7	5	4	1	0	1	0	1	0	0	0	0	6217	739	26	0	1799	0	GALNT6	12	51773457	In_Frame_Del	DEL	CCT	TCGA-BR-4184-01A-01D-1126-08	15527	51773457	82078438	2893	4958											
SLC4A8	9498	broad.mit.edu	37	chr12	51856118	51856118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgacgtagcatataagGcaaaagagcgagatgatctc	10	7	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:51856118G>A	uc001rys.1	+	9	1304	c.1126G>A	c.(1126-1128)Gca>Aca	p.A376T	SLC4A8_uc010sni.2_Missense_Mutation_p.A323T|SLC4A8_uc001rym.3_Missense_Mutation_p.A323T|SLC4A8_uc001ryn.3_Missense_Mutation_p.A323T|SLC4A8_uc001ryo.2_Missense_Mutation_p.A323T|SLC4A8_uc001ryp.1_3'UTR|SLC4A8_uc010snj.2_Missense_Mutation_p.A403T|SLC4A8_uc001ryq.4_Missense_Mutation_p.A376T|SLC4A8_uc001ryr.3_Missense_Mutation_p.A376T|SLC4A8_uc010snk.2_Missense_Mutation_p.A323T	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	376					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AGCATATAAGGCAAAAGAGCG	0.443													A	51856118	G	A	51856118	3	1	4	1	0	0	0	0	1	0	0	0	14659	1203	42	2	1164	2	SLC4A8	12	51856118	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	82661	51856118	81995777	2894	4959											
SCN8A	6334	broad.mit.edu	37	chr12	52082586	52082586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcaatgtttcagctctacGcactttcagggtactgaggg	12	9	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:52082586G>A	uc001ryw.3	+	5	837	c.659G>A	c.(658-660)cGc>cAc	p.R220H	SCN8A_uc010snl.2_Missense_Mutation_p.R220H|SCN8A_uc001ryx.1_Missense_Mutation_p.R85H|SCN8A_uc001ryz.1_Intron|SCN8A_uc001ryy.2_Intron	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	220					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCAGCTCTACGCACTTTCAGG	0.468													A	52082586	G	A	52082586	3	1	4	1	0	0	0	0	1	0	0	0	13924	1087	38	1	677	1	SCN8A	12	52082586	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	226468	52082586	81769309	2895	4960											
ACVR1B	91	broad.mit.edu	37	chr12	52385715	52385715	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccttccattgaggaaatgCgaaaggttgtatgtgatcag	11	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:52385715C>T	uc010snn.2	+	8	1530	c.1453C>T	c.(1453-1455)Cga>Tga	p.R485*	ACVR1B_uc001rzm.3_Nonsense_Mutation_p.R444*|ACVR1B_uc001rzn.3_Nonsense_Mutation_p.R444*|ACVR1B_uc021qya.1_Nonsense_Mutation_p.R392*	NM_020328	NP_064733	P36896	ACV1B_HUMAN	Homo sapiens activin A receptor, type IB (ACVR1B), transcript variant 3, mRNA.	444	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	ATP binding|SMAD binding|activin receptor activity, type I|metal ion binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	p.R485*(1)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TGAGGAAATGCGAAAGGTTGT	0.488													T	52385715	C	T	52385715	4	4	4	1	0	0	0	0	0	1	0	0	221	760	27	1	1487	1	ACVR1B	12	52385715	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	303129	52385715	81466180	2896	4961											
KRT86	3892	broad.mit.edu	37	chr12	52695732	52695732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttactgtggtggccgcgCcttcagctgcatctcggcct	11	14	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:52695732C>T	uc010snq.2	+	1	165	c.32C>T	c.(31-33)gCc>gTc	p.A11V	KRT86_uc009zmg.3_Missense_Mutation_p.A11V|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Missense_Mutation_p.A11V	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	11	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTGGCCGCGCCTTCAGCTGC	0.667													T	52695732	C	T	52695732	3	4	4	1	0	0	0	0	1	0	0	0	8500	739	26	2	34	2	KRT86	12	52695732	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	310017	52695732	81156163	2897	4962											
KRT75	9119	broad.mit.edu	37	chr12	52822241	52822241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctctgcatcagcaatgGccgtttgcaagctggaacac	11	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:52822241G>A	uc001saj.2	-	6	1203	c.1181C>T	c.(1180-1182)gCc>gTc	p.A394V		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	394	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		ATCAGCAATGGCCGTTTGCAA	0.572													A	52822241	G	A	52822241	3	1	4	1	0	0	0	0	1	0	0	0	8488	1203	42	2	486	2	KRT75	12	52822241	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	126509	52822241	81029654	2898	4963											
KRT6C	286887	broad.mit.edu	37	chr12	52864995	52864995	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggccttgacctcagcgatgAtgctgtccaggtccaggttg	14	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:52864995A>T	uc001sal.4	-	4	1046	c.998T>A	c.(997-999)aTc>aAc	p.I333N		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	333	Linker 12.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CTCAGCGATGATGCTGTCCAG	0.582													T	52864995	A	T	52864995	3	4	4	1	0	0	0	0	1	0	0	0	8482	333	12	5	716	5	KRT6C	12	52864995	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	42754	52864995	80986900	2899	4964											
KRT71	112802	broad.mit.edu	37	chr12	52940272	52940272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcagcatcagcgatggCtgtctccaggttggaagcct	12	12	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:52940272C>T	uc001sao.3	-	6	1193	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	375	Coil 2.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		TCAGCGATGGCTGTCTCCAGG	0.587													T	52940272	C	T	52940272	3	4	4	1	0	0	0	0	1	0	0	0	8484	797	28	2	460	2	KRT71	12	52940272	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	75277	52940272	80911623	2900	4965											
KRT8	3856	broad.mit.edu	37	chr12	53292668	53292668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggcatctgcaatggcggCctccagggaagccctctgtg	13	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:53292668C>T	uc009zmk.1	-	6	1101	c.1081G>A	c.(1081-1083)Gcc>Acc	p.A361T	KRT8_uc001sbd.2_Missense_Mutation_p.A333T|KRT8_uc009zml.1_Missense_Mutation_p.A333T|KRT8_uc009zmm.1_Missense_Mutation_p.A333T	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	333	Coil 2.|Necessary for interaction with PNN.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAATGGCGGCCTCCAGGGAA	0.642													T	53292668	C	T	53292668	3	4	4	1	0	0	0	0	1	0	0	0	8493	739	26	2	466	2	KRT8	12	53292668	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	352396	53292668	80559227	2901	4966											
EIF4B	1975	broad.mit.edu	37	chr12	53428437	53428437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaactcaggaacgggaacGgtcgaggacaggaagtgagt	16	6	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:53428437G>A	uc001sbh.4	+	9	1456	c.1250G>A	c.(1249-1251)cGg>cAg	p.R417Q	EIF4B_uc010snu.2_Missense_Mutation_p.R417Q|EIF4B_uc010snv.2_Missense_Mutation_p.R378Q	NM_001417	NP_001408	P23588	IF4B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4B (EIF4B), mRNA.	417					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GAACGGGAACGGTCGAGGACA	0.498													A	53428437	G	A	53428437	3	1	4	1	0	0	0	0	1	0	0	0	5027	1116	39	1	1288	1	EIF4B	12	53428437	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	135769	53428437	80423458	2902	4967											
TENC1	23371	broad.mit.edu	37	chr12	53446255	53446255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagtctgcaaggtggcgacGcacagaaaatgtgaagcaaa	12	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:53446255G>A	uc001sbp.3	+	2	336	c.201G>A	c.(199-201)acG>acA	p.T67T	LOC283335_uc001sbk.1_Intron|TENC1_uc001sbl.3_5'UTR|TENC1_uc001sbm.3_Silent_p.T77T|TENC1_uc001sbn.3_Silent_p.T77T|TENC1_uc001sbo.1_Silent_p.T67T	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	67					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	p.A66A(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						AGGTGGCGACGCACAGAAAAT	0.567													A	53446255	G	A	53446255	2	1	4	1	0	0	0	0	0	0	0	1	15755	1074	38	1		1	TENC1	12	53446255	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	17818	53446255	80405640	2903	4968											
SP7	121340	broad.mit.edu	37	chr12	53723085	53723085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcactgcccacagagtaCggcttctttgtgcctgcttt	10	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:53723085C>T	uc001sct.3	-	1	248	c.141G>A	c.(139-141)ccG>ccA	p.P47P	SP7_uc001scv.3_Silent_p.P47P|SP7_uc001scu.3_Silent_p.P29P	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						CCACAGAGTACGGCTTCTTTG	0.572													T	53723085	C	T	53723085	2	4	4	1	0	0	0	0	0	0	0	1	14969	523	19	1		1	SP7	12	53723085	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	276830	53723085	80128810	2904	4969											
SP1	6667	broad.mit.edu	37	chr12	53776267	53776267	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatcaagtaatcccacagtTccagaccgttgatgggcaac	9	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:53776267T>C	uc001scw.3	+	2	633	c.536T>C	c.(535-537)tTc>tCc	p.F179S	SP1_uc021qyf.1_Missense_Mutation_p.F131S|SP1_uc010sog.2_Missense_Mutation_p.F172S	NM_138473	NP_612482	P08047	SP1_HUMAN	Homo sapiens Sp1 transcription factor (SP1), transcript variant 1, mRNA.	179	Transactivation domain A (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	HMG box domain binding|double-stranded DNA binding|histone deacetylase binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ATCCCACAGTTCCAGACCGTT	0.502													C	53776267	T	C	53776267	3	2	4	1	0	0	0	0	1	0	0	0	14959	1783	62	3	546	3	SP1	12	53776267	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	53182	53776267	80075628	2905	4970											
HOXC10	3226	broad.mit.edu	37	chr12	54379097	54379097	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgcggagcccttggctgcGcccggcggaggagagcgcta	17	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:54379097G>A	uc001sen.3	+	0	152	c.54G>A	c.(52-54)gcG>gcA	p.A18A		NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN	Homo sapiens homeobox C10 (HOXC10), mRNA.	18					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CCTTGGCTGCGCCCGGCGGAG	0.592													A	54379097	G	A	54379097	2	1	4	1	0	0	0	0	0	0	0	1	7309	1074	38	1		1	HOXC10	12	54379097	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	602830	54379097	79472798	2906	4971											
HOXC10	3226	broad.mit.edu	37	chr12	54379557	54379557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggccaacgacttcgaaGcccctttcgagcagcgggcc	13	15	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:54379557G>A	uc001sen.3	+	0	612	c.514G>A	c.(514-516)Gcc>Acc	p.A172T		NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN	Homo sapiens homeobox C10 (HOXC10), mRNA.	172					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CGACTTCGAAGCCCCTTTCGA	0.652													A	54379557	G	A	54379557	3	1	4	1	0	0	0	0	1	0	0	0	7309	971	34	2	516	2	HOXC10	12	54379557	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	460	54379557	79472338	2907	4972											
HOXC9	3225	broad.mit.edu	37	chr12	54396240	54396240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggccaactggattcacGcccgctccacgaggaagaag	12	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:54396240G>A	uc001seq.3	+	1	661	c.565G>A	c.(565-567)Gcc>Acc	p.A189T		NM_006897	NP_008828	P31274	HXC9_HUMAN	Homo sapiens homeobox C9 (HOXC9), mRNA.	189					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						CTGGATTCACGCCCGCTCCAC	0.572													A	54396240	G	A	54396240	3	1	4	1	0	0	0	0	1	0	0	0	7317	1087	38	1	571	1	HOXC9	12	54396240	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	16683	54396240	79455655	2908	4973											
HOXC6	3223	broad.mit.edu	37	chr12	54423569	54423569	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcatcgagatcgccaacgcGctttgcctgaccgagcgaca	11	15	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:54423569G>A	uc001sev.3	+	1	643	c.531G>A	c.(529-531)gcG>gcA	p.A177A	HOXC6_uc001ses.3_Silent_p.A95A|HOXC5_uc001set.3_Intron|HOXC4_uc001seu.3_Intron	NM_004503	NP_710160	P09630	HXC6_HUMAN	Homo sapiens homeobox C6 (HOXC6), transcript variant 1, mRNA.	177					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCGCCAACGCGCTTTGCCTGA	0.567													A	54423569	G	A	54423569	2	1	4	1	0	0	0	0	0	0	0	1	7315	1074	38	1		1	HOXC6	12	54423569	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	27329	54423569	79428326	2909	4974											
HOXC5	3222	broad.mit.edu	37	chr12	54428168	54428168	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actcgccgcaggcgcatagaGatcgccaacaacttgtgtct	10	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:54428168G>T	uc001sew.3	+	1	636	c.561G>T	c.(559-561)gaG>gaT	p.E187D	HOXC5_uc001set.3_Non-coding_Transcript|HOXC4_uc001seu.3_Intron	NM_018953	NP_061826	Q00444	HXC5_HUMAN	Homo sapiens homeobox C5 (HOXC5), transcript variant 1, mRNA.	187					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						GGCGCATAGAGATCGCCAACA	0.498													T	54428168	G	T	54428168	3	4	4	1	0	0	0	0	1	0	0	0	7314	933	33	5	567	5	HOXC5	12	54428168	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4599	54428168	79423727	2910	4975											
ITGA5	3678	broad.mit.edu	37	chr12	54799107	54799107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacctcctgaggccgcccGtcaggggtccgatccatgag	12	17	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:54799107G>A	uc001sga.3	-	11	1136	c.1068C>T	c.(1066-1068)gaC>gaT	p.D356D	ITGA5_uc010sow.1_Non-coding_Transcript|ITGA5_uc009znp.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	356					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GAGGCCGCCCGTCAGGGGTCC	0.642													A	54799107	G	A	54799107	2	1	4	1	0	0	0	0	0	0	0	1	7879	1136	40	1		1	ITGA5	12	54799107	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	370939	54799107	79052788	2911	4976											
NEUROD4	58158	broad.mit.edu	37	chr12	55420335	55420335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggaggaagagagcagaCcaggtacttatgggatgctc	15	6	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:55420335C>T	uc001sgp.4	+	1	490	c.112C>T	c.(112-114)Cca>Tca	p.P38S	NEUROD4_uc021qyr.1_Missense_Mutation_p.P38S	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	38					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AGAGAGCAGACCAGGTACTTA	0.468													T	55420335	C	T	55420335	3	4	4	1	0	0	0	0	1	0	0	0	10350	507	18	4	114	4	NEUROD4	12	55420335	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	621228	55420335	78431560	2912	4977											
NEUROD4	58158	broad.mit.edu	37	chr12	55420539	55420539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgcatggcctgaatgacGccctggataacctgaggcga	14	10	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:55420539G>A	uc001sgp.4	+	1	694	c.316G>A	c.(316-318)Gcc>Acc	p.A106T	NEUROD4_uc021qyr.1_Missense_Mutation_p.A106T	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	106	Helix-loop-helix motif.				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.D105D(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CCTGAATGACGCCCTGGATAA	0.483													A	55420539	G	A	55420539	3	1	4	1	0	0	0	0	1	0	0	0	10350	1087	38	1	318	1	NEUROD4	12	55420539	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	204	55420539	78431356	2913	4978											
OR6C3	254786	broad.mit.edu	37	chr12	55726283	55726283	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaaagaaaaggcatcaTtgacaaaaggaatagctatt	8	6	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:55726283T>C	uc010spj.2	+	0	799	c.799T>C	c.(799-801)Ttg>Ctg	p.L267L		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						AAAGGCATCATTGACAAAAGG	0.383													C	55726283	T	C	55726283	2	2	4	1	0	0	0	0	0	0	0	1	11192	1490	52	3		3	OR6C3	12	55726283	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	305744	55726283	78125612	2914	4979											
OR6C65	403282	broad.mit.edu	37	chr12	55794672	55794672	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcatgtcttatgatcgCtatgtggctatctgcaaacc	9	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:55794672C>T	uc010spl.2	+	0	360	c.360C>T	c.(358-360)cgC>cgT	p.R120R		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						CTTATGATCGCTATGTGGCTA	0.378													T	55794672	C	T	55794672	2	4	4	1	0	0	0	0	0	0	0	1	11195	784	28	2		2	OR6C65	12	55794672	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	68389	55794672	78057223	2915	4980											
GDF11	10220	broad.mit.edu	37	chr12	56143477	56143477	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactactgctccggccagtgCgagtacatgttcatgcaaaa	9	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:56143477C>T	uc001shq.3	+	2	1072	c.1035C>T	c.(1033-1035)tgC>tgT	p.C345C		NM_005811	NP_005802	O95390	GDF11_HUMAN	Homo sapiens growth differentiation factor 11 (GDF11), mRNA.	345					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CCGGCCAGTGCGAGTACATGT	0.562													T	56143477	C	T	56143477	2	4	4	1	0	0	0	0	0	0	0	1	6312	776	27	1		1	GDF11	12	56143477	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	348805	56143477	77708418	2916	4981											
DGKA	1606	broad.mit.edu	37	chr12	56346910	56346910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagctcaagaatgctggaCgtcggctggccaagtgctct	12	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:56346910C>T	uc001sij.3	+	21	2293	c.2029C>T	c.(2029-2031)Cgt>Tgt	p.R677C	DGKA_uc001sik.3_Missense_Mutation_p.R677C|DGKA_uc001sil.3_Missense_Mutation_p.R677C|DGKA_uc001sim.3_Missense_Mutation_p.R677C|DGKA_uc001sin.3_Missense_Mutation_p.R677C|DGKA_uc009zof.3_Missense_Mutation_p.R323C|DGKA_uc001sio.3_Missense_Mutation_p.R419C	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	677					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GAATGCTGGACGTCGGCTGGC	0.562													T	56346910	C	T	56346910	3	4	4	1	0	0	0	0	1	0	0	0	4465	536	19	1	2111	1	DGKA	12	56346910	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	203433	56346910	77504985	2917	4982											
ERBB3	2065	broad.mit.edu	37	chr12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccattgcccaacctccgcGtggtgcgagggacccaggtc	12	15	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:56478854G>A	uc001sjh.3	+	2	586	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	ERBB3_uc009zoj.3_Non-coding_Transcript|ERBB3_uc010sqb.2_Intron|ERBB3_uc010sqc.2_Missense_Mutation_p.V45M|ERBB3_uc001sjg.3_Missense_Mutation_p.V104M	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	104			V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).		Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.V104M(8)|p.V104L(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517													A	56478854	G	A	56478854	3	1	4	1	0	0	0	0	1	0	0	0	5208	1145	40	1	320	1	ERBB3	12	56478854	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	131944	56478854	77373041	2918	4983											
PAN2	9924	broad.mit.edu	37	chr12	56716264	56716264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccactgctggtgagtaacGccctatggaaatacaaagaa	9	9	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:56716264G>A	uc001skx.3	-	18	3029	c.2652C>T	c.(2650-2652)ggC>ggT	p.G884G	PAN2_uc001skw.3_Silent_p.G32G|PAN2_uc001sky.3_Silent_p.G880G|PAN2_uc001skz.3_Silent_p.G883G	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	884					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GGTGAGTAACGCCCTATGGAA	0.433													A	56716264	G	A	56716264	2	1	4	1	0	0	0	0	0	0	0	1	11414	1074	38	1		1	PAN2	12	56716264	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	237410	56716264	77135631	2919	4984											
STAT2	6773	broad.mit.edu	37	chr12	56742817	56742818	+	Frame_Shift_Ins	INS	-	-	G													gcaagctccagggggccttgINSggggggttggagaagaactg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:56742816_56742817T>TG	uc001slc.3	-	16	1670_1671	c.1467_1468A>CA	c.(1465-1470)cccaagfs	p.P489fs	STAT2_uc001slb.3_Frame_Shift_Ins_p.P31fs|STAT2_uc001sld.3_Frame_Shift_Ins_p.P485fs|STAT2_uc010sqn.2_3'UTR	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	489					JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594													G	56742818	-	G	56742817	7	5	4	1	0	1	1	0	0	0	0	0	15264	1335	47	0	1120	0	STAT2	12	56742817	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	26553	56742817	77109078	2920	4985											
TIMELESS	8914	broad.mit.edu	37	chr12	56811784	56811784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcggctctttaccaacagCgtcttcctctgcaatgacca	7	15	3	1	rs150055938	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:56811784C>T	uc001slf.2	-	27	3631	c.3463G>A	c.(3463-3465)Gct>Act	p.A1155T		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	1155					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TTACCAACAGCGTCTTCCTCT	0.502													T	56811784	C	T	56811784	3	4	4	1	0	0	0	0	1	0	0	0	15901	768	27	1	171	1	TIMELESS	12	56811784	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	68967	56811784	77040111	2921	4986											
BAZ2A	11176	broad.mit.edu	37	chr12	56992460	56992460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggctctcgaagaagcggCgcatgatgtgcccagccttg	14	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:56992460C>T	uc001slq.1	-	28	5854	c.5660G>A	c.(5659-5661)cGc>cAc	p.R1887H	BAZ2A_uc001slp.1_Missense_Mutation_p.R1885H|BAZ2A_uc001slo.1_Missense_Mutation_p.R693H|BAZ2A_uc009zov.1_Missense_Mutation_p.R853H|BAZ2A_uc009zow.1_Missense_Mutation_p.R1855H	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	1887					DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GAAGAAGCGGCGCATGATGTG	0.562													T	56992460	C	T	56992460	3	4	4	1	0	0	0	0	1	0	0	0	1331	768	27	1	61	1	BAZ2A	12	56992460	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	180676	56992460	76859435	2922	4987											
ZBTB39	9880	broad.mit.edu	37	chr12	57397343	57397343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatactttcccacaggcagcGcatttcagctctggggaggc	11	12	2	0	rs150115700		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:57397343G>A	uc001sml.2	-	1	1512	c.1359C>T	c.(1357-1359)tgC>tgT	p.C453C	ZBTB39_uc021qzg.1_Silent_p.C453C	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						CACAGGCAGCGCATTTCAGCT	0.552													A	57397343	G	A	57397343	2	1	4	1	0	0	0	0	0	0	0	1	17537	1079	38	1		1	ZBTB39	12	57397343	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	404883	57397343	76454552	2923	4988											
LRP1	4035	broad.mit.edu	37	chr12	57548147	57548147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcattgccctggaccctgCcatggggtgagagtggcagg	18	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:57548147C>T	uc001snd.3	+	6	1464	c.998C>T	c.(997-999)gCc>gTc	p.A333V	LRP1_uc001snc.1_Missense_Mutation_p.A333V	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	333					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGGACCCTGCCATGGGGTGA	0.552													T	57548147	C	T	57548147	3	4	4	1	0	0	0	0	1	0	0	0	8951	739	26	2	1024	2	LRP1	12	57548147	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	150804	57548147	76303748	2924	4989											
LRP1	4035	broad.mit.edu	37	chr12	57595585	57595585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgacctgtggtgtggaCgagttccgctgcaaggattc	14	9	0	2	rs138672668		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:57595585C>T	uc001snd.3	+	66	10957	c.10491C>T	c.(10489-10491)gaC>gaT	p.D3497D		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3497	LDL-receptor class A 25.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGGTGTGGACGAGTTCCGCT	0.627													T	57595585	C	T	57595585	2	4	4	1	0	0	0	0	0	0	0	1	8951	535	19	1		1	LRP1	12	57595585	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	47438	57595585	76256310	2925	4990											
LRP1	4035	broad.mit.edu	37	chr12	57605717	57605717	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcttccctccagatatagcCtccatcctaatccctctgct	3	18	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:57605717C>A	uc001snd.3	+	86	13732	c.13266C>A	c.(13264-13266)gcC>gcA	p.A4422A		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	4422					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGATATAGCCTCCATCCTAA	0.602													A	57605717	C	A	57605717	2	1	4	1	0	0	0	0	0	0	0	1	8951	668	24	5		5	LRP1	12	57605717	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	10132	57605717	76246178	2926	4991											
NXPH4	11247	broad.mit.edu	37	chr12	57619402	57619402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacacgcagagccaggccGcctggctctgtgccaagccc	12	17	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:57619402G>A	uc010srf.2	+	1	974	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	NXPH4_uc009zpj.3_Missense_Mutation_p.A73T	NM_007224	NP_009155	O95158	NXPH4_HUMAN	Homo sapiens neurexophilin 4 (NXPH4), mRNA.	267	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						GAGCCAGGCCGCCTGGCTCTG	0.567													A	57619402	G	A	57619402	3	1	4	1	0	0	0	0	1	0	0	0	10793	1087	38	1	805	1	NXPH4	12	57619402	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	13685	57619402	76232493	2927	4992											
OS9	10956	broad.mit.edu	37	chr12	58090083	58090083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcagcatcgtcttaaacGctaccacagccagacctatg	7	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:58090083G>A	uc001spj.3	+	4	713	c.506G>A	c.(505-507)cGc>cAc	p.R169H	OS9_uc010srx.2_Intron|OS9_uc001spk.3_Missense_Mutation_p.R169H|OS9_uc001spl.3_Missense_Mutation_p.R169H|OS9_uc001spm.3_Missense_Mutation_p.R169H|OS9_uc001spn.3_Missense_Mutation_p.R169H|OS9_uc010sry.2_Intron|OS9_uc010srz.2_Missense_Mutation_p.R110H	NM_006812	NP_006803	Q13438	OS9_HUMAN	Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum lectin (OS9), transcript variant 1, mRNA.	169	PRKCSH.				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	Hrd1p ubiquitin ligase complex|endoplasmic reticulum lumen	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CGTCTTAAACGCTACCACAGC	0.557													A	58090083	G	A	58090083	3	1	4	1	0	0	0	0	1	0	0	0	11272	1087	38	1	524	1	OS9	12	58090083	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	470681	58090083	75761812	2928	4993											
AGAP2	116986	broad.mit.edu	37	chr12	58120958	58120958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctccgaggtgctcagcggCgccaggaacagtagctgctc	13	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:58120958C>T	uc001spq.3	-	17	3135	c.3135G>A	c.(3133-3135)gcG>gcA	p.A1045A	AGAP2_uc001spp.3_Silent_p.A1044A|AGAP2_uc001spr.3_Silent_p.A689A|LOC100130776_uc001sps.4_Silent_p.G61G	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	1045	Arf-GAP.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TGCTCAGCGGCGCCAGGAACA	0.672											OREG0021951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	58120958	C	T	58120958	2	4	4	1	0	0	0	0	0	0	0	1	368	755	27	1		1	AGAP2	12	58120958	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	30875	58120958	75730937	2929	4994											
AVIL	10677	broad.mit.edu	37	chr12	58197057	58197057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtatctaggagcatcacGtcagtagggttcaggtcatc	12	9	5	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:58197057G>A	uc001sqj.2	-	14	1964	c.1935C>T	c.(1933-1935)gaC>gaT	p.D645D	AVIL_uc009zqe.2_Silent_p.D638D|AVIL_uc001sqk.1_Silent_p.D223D	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	645	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GGAGCATCACGTCAGTAGGGT	0.478											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	58197057	G	A	58197057	2	1	4	1	0	0	0	0	0	0	0	1	1227	1136	40	1		1	AVIL	12	58197057	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	76099	58197057	75654838	2930	4995											
CTDSP2	10106	broad.mit.edu	37	chr12	58223300	58223300	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacttgactggccaacatgCtgggcgcgaaaacagcagaa	12	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:58223300C>T	uc001sqm.3	-	1	673	c.144G>A	c.(142-144)caG>caA	p.Q48Q	CTDSP2_uc009zqf.3_5'UTR|CTDSP2_uc009zqg.3_Intron	NM_005730	NP_005721	O14595	CTDS2_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 (CTDSP2), mRNA.	48					protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					GGCCAACATGCTGGGCGCGAA	0.537													T	58223300	C	T	58223300	2	4	4	1	0	0	0	0	0	0	0	1	4004	796	28	2		2	CTDSP2	12	58223300	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	26243	58223300	75628595	2931	4996											
SLC16A7	9194	broad.mit.edu	37	chr12	60168512	60168512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctataggaagcgacccatgGcaaatggattggccatggca	12	9	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:60168512G>A	uc001sqs.3	+	4	735	c.436G>A	c.(436-438)Gca>Aca	p.A146T	SLC16A7_uc001sqt.3_Missense_Mutation_p.A146T|SLC16A7_uc001squ.3_Missense_Mutation_p.A146T|SLC16A7_uc009zqi.3_Missense_Mutation_p.A47T|SLC16A7_uc010ssi.2_Missense_Mutation_p.A47T	NM_004731	NP_004722	O60669	MOT2_HUMAN	Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA.	146						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.A146S(2)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	GCGACCCATGGCAAATGGATT	0.418													A	60168512	G	A	60168512	3	1	4	1	0	0	0	0	1	0	0	0	14413	1203	42	2	446	2	SLC16A7	12	60168512	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1945212	60168512	73683383	2932	4997											
MON2	23041	broad.mit.edu	37	chr12	62946678	62946678	+	Frame_Shift_Del	DEL	T	T	-													tagtggaatatttcagattaTtttttccaaagaggggaaac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:62946678delT	uc001sre.2	+	24	3325	c.2934delT	c.(2932-2934)TATfs	p.Y978fs	MON2_uc009zqj.2_Frame_Shift_Del_p.Y978fs|MON2_uc010ssl.1_Frame_Shift_Del_p.Y906fs|MON2_uc010ssm.1_Frame_Shift_Del_p.Y955fs|MON2_uc010ssn.1_Frame_Shift_Del_p.Y978fs|MON2_uc001srf.2_Frame_Shift_Del_p.Y741fs	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	979					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTTCAGATTATTTTTTCCAAA	0.333													-	62946678	T	-	62946678	7	5	4	1	0	1	0	1	0	0	0	0	9700	1500	52	0	3028	0	MON2	12	62946678	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	2778166	62946678	70905217	2933	4998											
PPM1H	57460	broad.mit.edu	37	chr12	63182064	63182064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcaaatcacaatgagggCcgtgcagccaccagatatat	10	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:63182064C>T	uc001srk.3	-	3	960	c.811G>A	c.(811-813)Gcc>Acc	p.A271T		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA.	271	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		ACAATGAGGGCCGTGCAGCCA	0.443													T	63182064	C	T	63182064	3	4	4	1	0	0	0	0	1	0	0	0	12341	739	26	2	761	2	PPM1H	12	63182064	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	235386	63182064	70669831	2934	4999											
AVPR1A	552	broad.mit.edu	37	chr12	63541343	63541343	+	Frame_Shift_Del	DEL	A	A	-													tcttgaaggagatggccactAaaaaacatgtatatccaggg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:63541342_63541342TA>T	uc001sro.1	-	1	3028	c.1054_1054TA>A	c.(1054-1056)agtfs	p.S352fs		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	352					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	AGATGGCCACTAAAAAACATG	0.398													-	63541343	A	-	63541343	7	5	4	1	0	1	0	1	0	0	0	0	1231	359	13	0	207	0	AVPR1A	12	63541343	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	359279	63541343	70310552	2935	5000											
AVPR1A	552	broad.mit.edu	37	chr12	63543935	63543935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtacccaagatgaccacggGcgccacaaagatgccgcccg	12	15	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:63543935G>A	uc001sro.1	-	0	2656	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	228					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	ATGACCACGGGCGCCACAAAG	0.622													A	63543935	G	A	63543935	3	1	4	1	0	0	0	0	1	0	0	0	1231	1203	42	2	582	2	AVPR1A	12	63543935	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2592	63543935	70307960	2936	5001											
AVPR1A	552	broad.mit.edu	37	chr12	63544099	63544099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagctcagcacccaggcgGccgcgatcatgaggcgcgag	15	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:63544099G>A	uc001sro.1	-	0	2492	c.518C>T	c.(517-519)gCc>gTc	p.A173V		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	173					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CACCCAGGCGGCCGCGATCAT	0.637													A	63544099	G	A	63544099	3	1	4	1	0	0	0	0	1	0	0	0	1231	1203	42	2	746	2	AVPR1A	12	63544099	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	164	63544099	70307796	2937	5002											
SRGAP1	57522	broad.mit.edu	37	chr12	64377886	64377886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttagcagaaaggttcatggCaaaaacaagaagcactaagg	11	6	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:64377886C>T	uc010ssp.1	+	1	283	c.227C>T	c.(226-228)gCa>gTa	p.A76V	SRGAP1_uc001srt.3_Missense_Mutation_p.A76V|SRGAP1_uc001srv.2_Missense_Mutation_p.A36V	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	76	FCH.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AGGTTCATGGCAAAAACAAGA	0.398													T	64377886	C	T	64377886	3	4	4	1	0	0	0	0	1	0	0	0	15144	710	25	2	233	2	SRGAP1	12	64377886	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	833787	64377886	69474009	2938	5003											
SRGAP1	57522	broad.mit.edu	37	chr12	64491024	64491024	+	Frame_Shift_Del	DEL	A	A	-													tttttttttttttttaggtgAaaatcctttggctgatgacc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:64491023_64491023GA>G	uc010ssp.1	+	14	1737	c.1681_1681GA>G	c.(1681-1683)gaafs	p.E561fs	SRGAP1_uc001srv.2_Frame_Shift_Del_p.E498fs	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	561	Rho-GAP.				axon guidance	cytosol		p.G560G(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TTTTTTAGGTGAAAATCCTTT	0.348													-	64491024	A	-	64491024	7	5	4	1	0	1	0	1	0	0	0	0	15144	246	9	0	1740	0	SRGAP1	12	64491024	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	113138	64491024	69360871	2939	5004											
SRGAP1	57522	broad.mit.edu	37	chr12	64505708	64505708	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accatgagactattttcccaGatgctaaagagctggatggc	10	9	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:64505708G>T	uc010ssp.1	+	16	2142	c.2086G>T	c.(2086-2088)Gat>Tat	p.D696Y	SRGAP1_uc001srv.2_Missense_Mutation_p.D633Y	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	696					axon guidance	cytosol		p.P695S(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TATTTTCCCAGATGCTAAAGA	0.413													T	64505708	G	T	64505708	3	4	4	1	0	0	0	0	1	0	0	0	15144	942	33	5	2152	5	SRGAP1	12	64505708	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	14684	64505708	69346187	2940	5005											
TBK1	29110	broad.mit.edu	37	chr12	64875701	64875701	+	Frame_Shift_Del	DEL	T	T	-													agtgttggggttttgaccagTtttttgcagaaactagtgat							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:64875700_64875700GT>G	uc001ssc.2	+	7	1050	c.891_891GT>G	c.(889-891)cagfs	p.Q297fs		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	Homo sapiens TANK-binding kinase 1 (TBK1), mRNA.	297	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.D296H(1)		breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		GTTTTGACCAGTTTTTTGCAG	0.348													-	64875701	T	-	64875701	7	5	4	1	0	1	0	1	0	0	0	0	15634	1725	60	0	918	0	TBK1	12	64875701	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	369993	64875701	68976194	2941	5006											
HMGA2	8091	broad.mit.edu	37	chr12	66308662	66308662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagggtttcaccatgttggCcaggctggtctcgaactcct	11	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:66308662C>T	uc001ssu.1	+	3	1223	c.412C>T	c.(412-414)Cca>Tca	p.P138S	HMGA2_uc001ssw.1_Intron|HMGA2_uc001ssx.3_Intron|HMGA2_uc001ssv.3_Intron	NM_003483	NP_003474	P52926	HMGA2_HUMAN	Homo sapiens high mobility group AT-hook 2 (HMGA2), transcript variant 1, mRNA.	0					cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		accatgttggccaggctggtc	0.527			T	" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"	"lipoma, leiomyoma, pleiomorphic salivary gland adenoma"								T	66308662	C	T	66308662	3	4	4	1	0	0	0	0	1	0	0	0	7224	754	26	2		2	HMGA2	12	66308662	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1432961	66308662	67543233	2942	5007											
HELB	92797	broad.mit.edu	37	chr12	66703905	66703905	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacctgagaattcaagcgaTgatgcattgaatgagagcaa	10	6	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:66703905T>C	uc001sti.2	+	3	1225	c.1197T>C	c.(1195-1197)gaT>gaC	p.D399D	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	399					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	p.D399Y(1)|p.D399N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		ATTCAAGCGATGATGCATTGA	0.418													C	66703905	T	C	66703905	2	2	4	1	0	0	0	0	0	0	0	1	7045	1461	51	3		3	HELB	12	66703905	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	395243	66703905	67147990	2943	5008											
CAND1	55832	broad.mit.edu	37	chr12	67699777	67699777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggatacatggatttgttgCgcatgctgactggtccagtt	12	7	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:67699777C>T	uc001stn.2	+	9	2766	c.2329C>T	c.(2329-2331)Cgc>Tgc	p.R777C	CAND1_uc001sto.2_Missense_Mutation_p.R287C	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	777					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GGATTTGTTGCGCATGCTGAC	0.448													T	67699777	C	T	67699777	3	4	4	1	0	0	0	0	1	0	0	0	2615	768	27	1	2367	1	CAND1	12	67699777	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	995872	67699777	66152118	2944	5009											
IFNG	3458	broad.mit.edu	37	chr12	68551823	68551823	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctttaaagtttttaaaaAgtttgaagtaaaaggagaca	7	3	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:68551823A>G	uc001stw.1	-	2	362	c.236T>C	c.(235-237)cTt>cCt	p.L79P		NM_000619	NP_000610	P01579	IFNG_HUMAN	Homo sapiens interferon, gamma (IFNG), mRNA.	79					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	GTTTTTAAAAAGTTTGAAGTA	0.358													G	68551823	A	G	68551823	3	3	4	1	0	0	0	0	1	0	0	0	7548	72	3	3	272	3	IFNG	12	68551823	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	852046	68551823	65300072	2945	5010											
RAP1B	5908	broad.mit.edu	37	chr12	69042508	69042508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgacaagcttgcatcatgCgtgagtataagctagtcgtt	10	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:69042508C>T	uc001sub.3	+	1	244	c.4C>T	c.(4-6)Cgt>Tgt	p.R2C	RAP1B_uc010ste.2_Intron|RAP1B_uc001suc.3_Missense_Mutation_p.R2C|RAP1B_uc010stf.2_Missense_Mutation_p.R2C|RAP1B_uc010stg.2_Missense_Mutation_p.R2C|RAP1B_uc010sth.2_Missense_Mutation_p.R2C|RAP1B_uc010sti.2_Missense_Mutation_p.R2C	NM_015646	NP_056461	P61224	RAP1B_HUMAN	Homo sapiens RAP1B, member of RAS oncogene family (RAP1B), transcript variant 1, mRNA.	2					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TTGCATCATGCGTGAGTATAA	0.368													T	69042508	C	T	69042508	3	4	4	1	0	0	0	0	1	0	0	0	13036	768	27	1	6	1	RAP1B	12	69042508	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	490685	69042508	64809387	2946	5011											
MDM2	4193	broad.mit.edu	37	chr12	69233090	69233090	+	Frame_Shift_Del	DEL	C	C	-													cttcatgcaatgaaatgaatCccccccttccatcacattgc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:69233089_69233089TC>T	uc021rad.1	+	9	1107	c.633_633TC>T	c.(631-633)aatfs	p.N211fs	MDM2_uc001sui.3_Frame_Shift_Del_p.N318fs|MDM2_uc009zqx.3_Frame_Shift_Del_p.N263fs|MDM2_uc001sun.4_Frame_Shift_Del_p.N137fs|MDM2_uc009zra.3_Frame_Shift_Del_p.N111fs|MDM2_uc021raf.1_Frame_Shift_Del_p.N2fs|MDM2_uc009zrc.3_Frame_Shift_Del_p.N2fs|MDM2_uc009zrd.3_Frame_Shift_Del_p.N2fs|MDM2_uc009zre.3_Frame_Shift_Del_p.N59fs|MDM2_uc001suo.3_Frame_Shift_Del_p.N112fs|MDM2_uc009zrf.3_Frame_Shift_Del_p.N2fs|MDM2_uc009zrg.3_Frame_Shift_Del_p.N34fs|MDM2_uc009zrh.3_Frame_Shift_Del_p.N86fs|MDM2_uc021rag.1_Non-coding_Transcript|MDM2_uc021rah.1_Frame_Shift_Del_p.N282fs|MDM2_uc021rai.1_Frame_Shift_Del_p.N2fs|MDM2_uc021raj.1_Frame_Shift_Del_p.N2fs			Q00987	MDM2_HUMAN	Homo sapiens Mdm2 p53 binding protein homolog (mouse) (MDM2), transcript variant MDM2, mRNA.	312	ARF-binding.|Interaction with MTBP (By similarity).|Interaction with PYHIN1.|Poly-Ser.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|cellular response to hypoxia|establishment of protein localization|interspecies interaction between organisms|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTC	0.428			A		"sarcoma, glioma, colorectal, other"								-	69233090	C	-	69233090	7	5	4	1	0	1	0	1	0	0	0	0	9413	855	30	0	997	0	MDM2	12	69233090	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	190582	69233090	64618805	2947	5012											
CPSF6	11052	broad.mit.edu	37	chr12	69651601	69651601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccacaaggtggtagaggaCggggccgttttccaggggct	16	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:69651601C>T	uc001sut.4	+	4	720	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	CPSF6_uc001suu.4_Missense_Mutation_p.R204W|CPSF6_uc010stk.2_5'Flank	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	204					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	p.R204L(1)		endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TGGTAGAGGACGGGGCCGTTT	0.547													T	69651601	C	T	69651601	3	4	4	1	0	0	0	0	1	0	0	0	3829	527	19	1	628	1	CPSF6	12	69651601	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	418511	69651601	64200294	2948	5013											
BEST3	144453	broad.mit.edu	37	chr12	70087555	70087555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgacgtagcgcatcagcGtccttctaagcaggcgcccg	12	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:70087555G>A	uc001svg.3	-	3	607	c.380C>T	c.(379-381)aCg>aTg	p.T127M	BEST3_uc001svd.2_Missense_Mutation_p.T127M|BEST3_uc010stm.2_Missense_Mutation_p.T21M|BEST3_uc001svi.1_Non-coding_Transcript	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	127						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GCGCATCAGCGTCCTTCTAAG	0.532													A	70087555	G	A	70087555	3	1	4	1	0	0	0	0	1	0	0	0	1406	1145	40	1	1654	1	BEST3	12	70087555	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	435954	70087555	63764340	2949	5014											
CNOT2	4848	broad.mit.edu	37	chr12	70735907	70735907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatctctaccccaaatttgCgtcaccctgggcatcttcac	5	15	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:70735907C>T	uc001svv.3	+	11	1781	c.1199C>T	c.(1198-1200)gCg>gTg	p.A400V	CNOT2_uc009zro.3_Missense_Mutation_p.A400V|CNOT2_uc009zrp.3_Missense_Mutation_p.A380V|CNOT2_uc009zrq.3_Missense_Mutation_p.A400V|CNOT2_uc001svw.1_Missense_Mutation_p.A140V	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.	400					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	RNA polymerase II transcription cofactor activity|protein binding	p.A400V(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CCCAAATTTGCGTCACCCTGG	0.343													T	70735907	C	T	70735907	3	4	4	1	0	0	0	0	1	0	0	0	3619	768	27	1	1241	1	CNOT2	12	70735907	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	648352	70735907	63115988	2950	5015											
PTPRB	5787	broad.mit.edu	37	chr12	70964877	70964877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacaagaattttgtattggCggcctggtgttagggaagta	14	4	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:70964877C>T	uc001swb.4	-	10	2675	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	PTPRB_uc010sto.2_Missense_Mutation_p.R882H|PTPRB_uc010stp.2_Missense_Mutation_p.R792H|PTPRB_uc001swc.4_Missense_Mutation_p.R1100H|PTPRB_uc001swa.4_Missense_Mutation_p.R1012H|PTPRB_uc001swd.4_Missense_Mutation_p.R1099H|PTPRB_uc009zrr.2_Missense_Mutation_p.R979H	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	882	Fibronectin type-III 10.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTTGTATTGGCGGCCTGGTGT	0.433													T	70964877	C	T	70964877	3	4	4	1	0	0	0	0	1	0	0	0	12796	768	27	1	3436	1	PTPRB	12	70964877	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	228970	70964877	62887018	2951	5016											
TSPAN8	7103	broad.mit.edu	37	chr12	71523157	71523157	+	Frame_Shift_Del	DEL	T	T	-													ttccaataactataatcaaaTtttttgccaagaagtctttt					rs139952436	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:71523156_71523156AT>A	uc009zrt.1	-	6	777	c.615_615AT>T	c.(613-615)aatfs	p.N205fs	TSPAN8_uc001swk.1_Frame_Shift_Del_p.N205fs|TSPAN8_uc001swj.1_Frame_Shift_Del_p.N205fs	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	205					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			CTATAATCAAATTTTTTGCCA	0.269													-	71523157	T	-	71523157	7	5	4	1	0	1	0	1	0	0	0	0	16650	1493	52	0	107	0	TSPAN8	12	71523157	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	558280	71523157	62328738	2952	5017											
TSPAN8	7103	broad.mit.edu	37	chr12	71531970	71531970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcctaggatacctgtcGccacctgcaggagcaggatc	11	14	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:71531970G>A	uc009zrt.1	-	3	464	c.302C>T	c.(301-303)gCg>gTg	p.A101V	TSPAN8_uc001swk.1_Missense_Mutation_p.A101V|TSPAN8_uc001swj.1_Missense_Mutation_p.A101V	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	101					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			GATACCTGTCGCCACCTGCAG	0.398													A	71531970	G	A	71531970	3	1	4	1	0	0	0	0	1	0	0	0	16650	1087	38	1	431	1	TSPAN8	12	71531970	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	8813	71531970	62319925	2953	5018											
TPH2	121278	broad.mit.edu	37	chr12	72416230	72416230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagcaagaagggcaactgCgggcatatggagcaggactc	15	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:72416230C>T	uc009zrw.1	+	8	1261	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	TPH2_uc001swy.2_Missense_Mutation_p.R284W	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	374					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AGGGCAACTGCGGGCATATGG	0.433													T	72416230	C	T	72416230	3	4	4	1	0	0	0	0	1	0	0	0	16399	759	27	1	1154	1	TPH2	12	72416230	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	884260	72416230	61435665	2954	5019											
TRHDE	29953	broad.mit.edu	37	chr12	72863686	72863686	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcattgttcatgagatatgTcaccaggtatgagaaaaaga	10	5	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:72863686T>C	uc001sxa.3	+	3	1359	c.1329T>C	c.(1327-1329)tgT>tgC	p.C443C		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	443					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATGAGATATGTCACCAGGTAT	0.338													C	72863686	T	C	72863686	2	2	4	1	0	0	0	0	0	0	0	1	16476	1673	58	3		3	TRHDE	12	72863686	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	447456	72863686	60988209	2955	5020											
CAPS2	84698	broad.mit.edu	37	chr12	75676076	75676076	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcacagtaacattttcttaTgtttataataggcacactgc	6	8	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:75676076T>C	uc001sxl.3	-	15	1596	c.1567A>G	c.(1567-1569)Ata>Gta	p.I523V	CAPS2_uc001sxm.3_Missense_Mutation_p.I310V|CAPS2_uc009zsa.2_Missense_Mutation_p.I132V|CAPS2_uc001sxi.4_Missense_Mutation_p.I278V|CAPS2_uc001sxj.4_Missense_Mutation_p.I453V|CAPS2_uc001sxk.4_Missense_Mutation_p.I542V	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	Homo sapiens calcyphosine 2 (CAPS2), mRNA.	542	EF-hand 3.						calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CATTTTCTTATGTTTATAATA	0.299													C	75676076	T	C	75676076	3	2	4	1	0	0	0	0	1	0	0	0	2638	1464	51	3	57	3	CAPS2	12	75676076	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	2812390	75676076	58175819	2956	5021											
BBS10	79738	broad.mit.edu	37	chr12	76740999	76740999	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgttactatcaccattcGcatgtcaccatctgctgggc	7	13	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:76740999G>A	uc001syd.1	-	1	850	c.766C>T	c.(766-768)Cga>Tga	p.R256*		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Homo sapiens Bardet-Biedl syndrome 10 (BBS10), mRNA.	256					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						ATCACCATTCGCATGTCACCA	0.423									Bardet-Biedl syndrome				A	76740999	G	A	76740999	4	1	4	1	0	0	0	0	0	1	0	0	1336	1095	38	1	1409	1	BBS10	12	76740999	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1064923	76740999	57110896	2957	5022											
ZDHHC17	23390	broad.mit.edu	37	chr12	77244672	77244672	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttctttgaatttcgatgCtgtggcctctttcgtcctgt	9	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:77244672C>T	uc001syk.1	+	16	1969	c.1806C>T	c.(1804-1806)tgC>tgT	p.C602C		NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA.	602					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	p.R601*(1)		breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						AATTTCGATGCTGTGGCCTCT	0.408													T	77244672	C	T	77244672	2	4	4	1	0	0	0	0	0	0	0	1	17604	805	28	2		2	ZDHHC17	12	77244672	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	503673	77244672	56607223	2958	5023											
NAV3	89795	broad.mit.edu	37	chr12	78444840	78444840	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagcaagcagtgacctggAcatgtcttctgaggtcgatg	13	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:78444840A>G	uc001syp.3	+	10	2602	c.2429A>G	c.(2428-2430)gAc>gGc	p.D810G	NAV3_uc001syo.3_Missense_Mutation_p.D810G|NAV3_uc010sub.2_Missense_Mutation_p.D310G	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	810						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGTGACCTGGACATGTCTTCT	0.488										HNSCC(70;0.22)			G	78444840	A	G	78444840	3	3	4	1	0	0	0	0	1	0	0	0	10185	275	10	3	2471	3	NAV3	12	78444840	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1200168	78444840	55407055	2959	5024											
PPP1R12A	4659	broad.mit.edu	37	chr12	80211266	80211266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgtactagaagtgttggCattagttacagaagccaggg	13	5	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:80211266C>T	uc001syz.3	-	8	1414	c.1147G>A	c.(1147-1149)Gcc>Acc	p.A383T	PPP1R12A_uc010suc.2_Missense_Mutation_p.A296T|PPP1R12A_uc001sza.3_Missense_Mutation_p.A383T|PPP1R12A_uc010sud.2_Missense_Mutation_p.A383T|PPP1R12A_uc001szb.3_Missense_Mutation_p.A383T|PPP1R12A_uc001szc.2_Missense_Mutation_p.A383T	NM_002480	NP_001137358	O14974	MYPT1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12A (PPP1R12A), transcript variant 1, mRNA.	383						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GAAGTGTTGGCATTAGTTACA	0.388													T	80211266	C	T	80211266	3	4	4	1	0	0	0	0	1	0	0	0	12354	710	25	2	2013	2	PPP1R12A	12	80211266	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1766426	80211266	53640629	2960	5025											
ACSS3	79611	broad.mit.edu	37	chr12	81610701	81610701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactggatctccaattactgCgtcatgtgttggattaggca	11	8	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:81610701C>T	uc001szl.1	+	9	1467	c.1376C>T	c.(1375-1377)gCg>gTg	p.A459V	ACSS3_uc001szm.1_Missense_Mutation_p.A458V|ACSS3_uc001szn.1_Missense_Mutation_p.A141V	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	459						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CCAATTACTGCGTCATGTGTT	0.398													T	81610701	C	T	81610701	3	4	4	1	0	0	0	0	1	0	0	0	190	768	27	1	1414	1	ACSS3	12	81610701	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1399435	81610701	52241194	2961	5026											
C12orf26	84190	broad.mit.edu	37	chr12	82870436	82870436	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagctgccagaaaaaaTtataatgaactactacgaga	7	7	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:82870436T>A	uc001szq.3	+	9	1655	c.1586T>A	c.(1585-1587)aTt>aAt	p.I529N		NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	Homo sapiens chromosome 12 open reading frame 26 (C12orf26), mRNA.	529										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	19						CCAGAAAAAATTATAATGAAC	0.274													A	82870436	T	A	82870436	3	1	4	1	0	0	0	0	1	0	0	0	1679	1493	52	5	1624	5	C12orf26	12	82870436	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1259735	82870436	50981459	2962	5027											
CEP290	80184	broad.mit.edu	37	chr12	88443073	88443075	+	In_Frame_Del	DEL	TCT	TCT	-													ctgaaagtttttttaccttcTcttctaagagaatattcttc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:88443072_88443074CTCT>C	uc001tar.3	-	53	7671_7673	c.7327_7329AGAG>G	c.(7327-7329)gag>G	p.E2443del	CEP290_uc001taq.3_In_Frame_Del_p.E1503del|C12orf29_uc001tao.3_3'UTR|C12orf29_uc001tap.3_Non-coding_Transcript|C12orf29_uc009zsk.3_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	2443					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTTTTACCTTCTCTTCTAAGAGA	0.315													-	88443075	TCT	-	88443073	7	5	4	1	0	1	0	1	0	0	0	0	3253	1551	54	0	115	0	CEP290	12	88443073	In_Frame_Del	DEL	TCT	TCGA-BR-4184-01A-01D-1126-08	5572637	88443073	45408822	2963	5028											
TMTC3	160418	broad.mit.edu	37	chr12	88547228	88547228	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcaaactttttctggacaAcaagagtagtgtgattgctt	9	6	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:88547228A>G	uc001tau.3	+	2	570	c.350A>G	c.(349-351)aAc>aGc	p.N117S	TMTC3_uc009zsm.2_Non-coding_Transcript	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 3 (TMTC3), mRNA.	117						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TTTCTGGACAACAAGAGTAGT	0.323													G	88547228	A	G	88547228	3	3	4	1	0	0	0	0	1	0	0	0	16259	43	2	3	356	3	TMTC3	12	88547228	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	104155	88547228	45304667	2964	5029											
KITLG	4254	broad.mit.edu	37	chr12	88910187	88910187	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaagtccttgaaggcatcAatggatctattaaaaattct	6	7	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:88910187A>G	uc001tav.3	-	4	639	c.444T>C	c.(442-444)atT>atC	p.I148I	KITLG_uc009zsn.3_Intron|KITLG_uc001taw.3_Silent_p.I148I|KITLG_uc009zso.1_Intron	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	148					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						TGAAGGCATCAATGGATCTAT	0.358									Testicular Cancer, Familial Clustering of				G	88910187	A	G	88910187	2	3	4	1	0	0	0	0	0	0	0	1	8330	126	5	3		3	KITLG	12	88910187	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	362959	88910187	44941708	2965	5030											
ATP2B1	490	broad.mit.edu	37	chr12	89992941	89992941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccacaagatttggccacGccgcaactccctttcagcgt	7	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:89992941G>A	uc001tbh.3	-	18	3485	c.3304C>T	c.(3304-3306)Cgt>Tgt	p.R1102C	ATP2B1_uc001tbg.3_Missense_Mutation_p.R1102C|ATP2B1_uc009zsr.3_Non-coding_Transcript|ATP2B1_uc001tbf.3_Missense_Mutation_p.R736C	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	1102	Calmodulin-binding subdomain A.				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ATTTGGCCACGCCGCAACTCC	0.483													A	89992941	G	A	89992941	3	1	4	1	0	0	0	0	1	0	0	0	1139	1087	38	1	524	1	ATP2B1	12	89992941	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1082754	89992941	43858954	2966	5031											
LUM	4060	broad.mit.edu	37	chr12	91498015	91498015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagactggtttctgagatgCgattgccatccaaacgcaaa	10	9	1	2	rs139919924		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:91498015C>T	uc001tbm.3	-	2	1333	c.944G>A	c.(943-945)cGc>cAc	p.R315H		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	315					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.R315H(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TTCTGAGATGCGATTGCCATC	0.378													T	91498015	C	T	91498015	3	4	4	1	0	0	0	0	1	0	0	0	9085	768	27	1	76	1	LUM	12	91498015	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1505074	91498015	42353880	2967	5032											
CLLU1OS	574016	broad.mit.edu	37	chr12	92814871	92814871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcacatttcctttgcccGctctcacatatgcagagatg	7	12	2	1	rs147336226		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:92814871G>A	uc001tcb.1	-	2	223	c.221C>T	c.(220-222)gCg>gTg	p.A74V	CLLU1_uc001tcc.2_5'Flank|CLLU1_uc001tcd.2_5'Flank|CLLU1_uc001tce.1_5'Flank|CLLU1_uc001tcf.2_5'Flank	NM_001025232	NP_001020403	Q5K130	CLU1O_HUMAN	Homo sapiens chronic lymphocytic leukemia up-regulated 1 opposite strand (CLLU1OS), mRNA.	74										large_intestine(1)|lung(7)	8						TCCTTTGCCCGCTCTCACATA	0.428													A	92814871	G	A	92814871	3	1	4	1	0	0	0	0	1	0	0	0	3541	1087	38	1	88	1	CLLU1OS	12	92814871	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1316856	92814871	41037024	2968	5033											
C12orf74	338809	broad.mit.edu	37	chr12	93100872	93100872	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcttcggcagcaagaaggCcacttcctgcccagccccac	8	18	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:93100872C>T	uc001tch.2	+	1	916	c.465C>T	c.(463-465)ggC>ggT	p.G155G	C12orf74_uc001tci.3_Silent_p.G155G|C12orf74_uc021rbt.1_Silent_p.G155G	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	Homo sapiens chromosome 12 open reading frame 74 (C12orf74), transcript variant 2, mRNA.	155										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						AGCAAGAAGGCCACTTCCTGC	0.572													T	93100872	C	T	93100872	2	4	4	1	0	0	0	0	0	0	0	1	1714	726	26	2		2	C12orf74	12	93100872	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	286001	93100872	40751023	2969	5034											
EEA1	8411	broad.mit.edu	37	chr12	93236266	93236266	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttttgtgttaattcattaActgaacttttcagtttttgt	5	4	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:93236266A>C	uc001tck.3	-	9	1155	c.890T>G	c.(889-891)gTt>gGt	p.V297G		NM_003566	NP_003557	Q15075	EEA1_HUMAN	Homo sapiens early endosome antigen 1 (EEA1), mRNA.	297					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TAATTCATTAACTGAACTTTT	0.299													C	93236266	A	C	93236266	3	2	4	1	0	0	0	0	1	0	0	0	4921	43	2	5	3425	5	EEA1	12	93236266	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	135394	93236266	40615629	2970	5035											
TMCC3	57458	broad.mit.edu	37	chr12	94972205	94972205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctcgtaggcctggtaggCcaccttctcctcaatgctgg	12	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:94972205C>T	uc001tdj.2	-	2	1214	c.1096G>A	c.(1096-1098)Gcc>Acc	p.A366T	TMCC3_uc001tdi.2_Missense_Mutation_p.A335T	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	366						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GCCTGGTAGGCCACCTTCTCC	0.562													T	94972205	C	T	94972205	3	4	4	1	0	0	0	0	1	0	0	0	15991	739	26	2	345	2	TMCC3	12	94972205	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1735939	94972205	38879690	2971	5036											
USP44	84101	broad.mit.edu	37	chr12	95927128	95927128	+	Frame_Shift_Del	DEL	A	A	-													attggttcagatcaagctttAaaaaacattgtcgaaaaata							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:95927127_95927127TA>T	uc001teg.3	-	1	1050	c.906_906TA>A	c.(904-906)ttafs	p.L302fs	USP44_uc001teh.3_Frame_Shift_Del_p.L302fs|USP44_uc009zte.3_Frame_Shift_Del_p.L299fs	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	302					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GATCAAGCTTTAAAAAACATT	0.373													-	95927128	A	-	95927128	7	5	4	1	0	1	0	1	0	0	0	0	17072	372	13	0	1253	0	USP44	12	95927128	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	954923	95927128	37924767	2972	5037											
HAL	3034	broad.mit.edu	37	chr12	96380970	96380970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggatgtgatcatctgcGtcccattgatgagtgccagg	13	10	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:96380970G>A	uc001tem.1	-	11	1223	c.926C>T	c.(925-927)aCg>aTg	p.T309M	HAL_uc010sux.1_Missense_Mutation_p.T309M|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_Missense_Mutation_p.T101M	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	309					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GATCATCTGCGTCCCATTGAT	0.527													A	96380970	G	A	96380970	3	1	4	1	0	0	0	0	1	0	0	0	6947	1145	40	1	1087	1	HAL	12	96380970	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	453842	96380970	37470925	2973	5038											
LTA4H	4048	broad.mit.edu	37	chr12	96409440	96409440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaatcgtccgcaaatgtggCgttccaagtacacagtatgt	9	10	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:96409440C>T	uc001ten.1	-	10	1048	c.980G>A	c.(979-981)cGc>cAc	p.R327H	LTA4H_uc010suy.1_Missense_Mutation_p.R289H|LTA4H_uc010suz.1_Missense_Mutation_p.R289H|LTA4H_uc010sva.1_Non-coding_Transcript|LTA4H_uc009ztj.3_5'Flank	NM_000895	NP_000886	P09960	LKHA4_HUMAN	Homo sapiens leukotriene A4 hydrolase (LTA4H), mRNA.	327					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						GCAAATGTGGCGTTCCAAGTA	0.363											OREG0022040	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	96409440	C	T	96409440	3	4	4	1	0	0	0	0	1	0	0	0	9069	768	27	1	891	1	LTA4H	12	96409440	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	28470	96409440	37442455	2974	5039											
ELK3	2004	broad.mit.edu	37	chr12	96640801	96640801	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagatggatcctcacgcGgtggagatcagccgggagag	16	9	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:96640801G>A	uc001teo.1	+	2	570	c.291G>A	c.(289-291)gcG>gcA	p.A97A		NM_005230	NP_005221	P41970	ELK3_HUMAN	Homo sapiens ELK3, ETS-domain protein (SRF accessory protein 2) (ELK3), mRNA.	97					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					ATCCTCACGCGGTGGAGATCA	0.562													A	96640801	G	A	96640801	2	1	4	1	0	0	0	0	0	0	0	1	5060	1103	39	1		1	ELK3	12	96640801	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	231361	96640801	37211094	2975	5040											
C12orf63	374467	broad.mit.edu	37	chr12	97051724	97051724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatattaaaaatgacaacgGtggttctagtcttacctttg	8	6	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:97051724G>A	uc021rcc.1	+	3	518	c.440G>A	c.(439-441)gGt>gAt	p.G147D				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	147										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AATGACAACGGTGGTTCTAGT	0.343													A	97051724	G	A	97051724	3	1	4	1	0	0	0	0	1	0	0	0	1706	1261	44	4	450	4	C12orf63	12	97051724	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	410923	97051724	36800171	2976	5041											
C12orf63	374467	broad.mit.edu	37	chr12	97078974	97078974	+	Frame_Shift_Del	DEL	G	G	-													tctgtcaagagttggcatctGggggtgtttgcaaggagcag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:97078973_97078973TG>T	uc021rcc.1	+	8	1324	c.1246_1246TG>T	c.(1246-1248)tggfs	p.W416fs				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	416										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGTTGGCATCTGGGGGTGTTT	0.502													-	97078974	G	-	97078974	7	5	4	1	0	1	0	1	0	0	0	0	1706	1357	47	0	1277	0	C12orf63	12	97078974	Frame_Shift_Del	DEL	G	TCGA-BR-4184-01A-01D-1126-08	27250	97078974	36772921	2977	5042											
APAF1	317	broad.mit.edu	37	chr12	99053038	99053038	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcacacggttggatcaggaTgagagtttttcccagaggct	13	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:99053038T>C	uc001tfz.3	+	4	1204	c.627T>C	c.(625-627)gaT>gaC	p.D209D	APAF1_uc001tfy.3_Silent_p.D198D|APAF1_uc001tga.3_Silent_p.D198D|APAF1_uc001tgb.3_Silent_p.D209D|APAF1_uc001tgc.3_Silent_p.D209D	NM_181861	NP_863651	O14727	APAF_HUMAN	Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	209	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TGGATCAGGATGAGAGTTTTT	0.468													C	99053038	T	C	99053038	2	2	4	1	0	0	0	0	0	0	0	1	755	1461	51	3		3	APAF1	12	99053038	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1974064	99053038	34798857	2978	5043											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100482858	100482858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcacttgctgggcagatgCgactactgtagagctctaaa	10	10	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:100482858C>T	uc001tgq.3	-	7	1085	c.856G>A	c.(856-858)Gca>Aca	p.A286T	UHRF1BP1L_uc001tgr.3_Missense_Mutation_p.A286T|UHRF1BP1L_uc001tgp.3_5'UTR	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	286										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGGGCAGATGCGACTACTGTA	0.358													T	100482858	C	T	100482858	3	4	4	1	0	0	0	0	1	0	0	0	16966	768	27	1	3618	1	UHRF1BP1L	12	100482858	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1429820	100482858	33369037	2979	5044											
GAS2L3	283431	broad.mit.edu	37	chr12	101018596	101018596	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagatagtggagataaaaaAcctactgcaaagaaaaagga	10	5	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:101018596A>T	uc001thu.3	+	9	2239	c.2013A>T	c.(2011-2013)aaA>aaT	p.K671N	GAS2L3_uc009zty.3_Missense_Mutation_p.K671N|GAS2L3_uc001thv.3_Missense_Mutation_p.K567N	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	Homo sapiens growth arrest-specific 2 like 3 (GAS2L3), mRNA.	671					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GAGATAAAAAACCTACTGCAA	0.378													T	101018596	A	T	101018596	3	4	4	1	0	0	0	0	1	0	0	0	6248	40	2	5	2043	5	GAS2L3	12	101018596	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	535738	101018596	32833299	2980	5045											
SLC5A8	160728	broad.mit.edu	37	chr12	101588918	101588918	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccccgttgccactaccgcGccccacagatcaaatcctgt	6	19	1	1	rs143104107		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:101588918G>A	uc001thz.4	-	3	882	c.492C>T	c.(490-492)ggC>ggT	p.G164G		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	164					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCACTACCGCGCCCCACAGAT	0.408													A	101588918	G	A	101588918	2	1	4	1	0	0	0	0	0	0	0	1	14671	1074	38	1		1	SLC5A8	12	101588918	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	570322	101588918	32262977	2981	5046											
UTP20	27340	broad.mit.edu	37	chr12	101720944	101720944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcatggccattgtcctgCggttcctggccgggacccaa	12	16	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:101720944C>T	uc001tia.1	+	25	3283	c.3127C>T	c.(3127-3129)Cgg>Tgg	p.R1043W		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1043					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			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CATTGTCCTGCGGTTCCTGGC	0.478													T	101720944	C	T	101720944	3	4	4	1	0	0	0	0	1	0	0	0	17096	759	27	1	3229	1	UTP20	12	101720944	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	132026	101720944	32130951	2982	5047											
MYBPC1	4604	broad.mit.edu	37	chr12	102025861	102025861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcaggaaattacagatgCgaggtcacctataaggataa	10	6	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:102025861C>T	uc001tii.3	+	5	566	c.426C>T	c.(424-426)tgC>tgT	p.C142C	MYBPC1_uc001tif.2_Silent_p.C155C|MYBPC1_uc001tig.3_Silent_p.C167C|MYBPC1_uc010svr.2_Silent_p.C142C|MYBPC1_uc010svs.2_Silent_p.C142C|MYBPC1_uc001tij.3_Silent_p.C142C|MYBPC1_uc010svt.2_Silent_p.C130C|MYBPC1_uc010svu.2_Silent_p.C142C|MYBPC1_uc001tik.3_Silent_p.C116C|MYBPC1_uc001tih.3_Silent_p.C167C|MYBPC1_uc010svq.2_Silent_p.C129C	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	142	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	p.C167C(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATTACAGATGCGAGGTCACCT	0.393													T	102025861	C	T	102025861	2	4	4	1	0	0	0	0	0	0	0	1	10011	776	27	1		1	MYBPC1	12	102025861	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	304917	102025861	31826034	2983	5048											
C12orf42	374470	broad.mit.edu	37	chr12	103699756	103699756	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acaacatgatacttaccagaAtttttcttgggactgctcaa	6	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:103699756A>T	uc001tjt.2	-	4	715	c.627T>A	c.(625-627)aaT>aaA	p.N209K	C12orf42_uc001tjs.3_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.N209K|C12orf42_uc001tju.2_Missense_Mutation_p.N114K	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	209										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						ACTTACCAGAATTTTTCTTGG	0.418													T	103699756	A	T	103699756	3	4	4	1	0	0	0	0	1	0	0	0	1688	98	4	5	463	5	C12orf42	12	103699756	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1673895	103699756	30152139	2984	5049											
C12orf42	374470	broad.mit.edu	37	chr12	103872137	103872137	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatgcattacctgcatcctgTttgcaaaaggtctgatggtt	9	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:103872137T>A	uc001tjt.2	-	1	156	c.68A>T	c.(67-69)aAc>aTc	p.N23I	C12orf42_uc001tjs.3_Non-coding_Transcript|C12orf42_uc009zuf.1_Missense_Mutation_p.N23I|C12orf42_uc001tju.2_5'UTR	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	23										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CTGCATCCTGTTTGCAAAAGG	0.333													A	103872137	T	A	103872137	3	1	4	1	0	0	0	0	1	0	0	0	1688	1725	60	5	1034	5	C12orf42	12	103872137	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	172381	103872137	29979758	2985	5050											
STAB2	55576	broad.mit.edu	37	chr12	104136204	104136204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccctggaggaccagatgCcccgtgtaataaccggggtg	14	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:104136204C>T	uc001tjw.3	+	55	6089	c.5903C>T	c.(5902-5904)gCc>gTc	p.A1968V	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1968	Laminin EGF-like 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGACCAGATGCCCCGTGTAAT	0.557													T	104136204	C	T	104136204	3	4	4	1	0	0	0	0	1	0	0	0	15237	739	26	2	6125	2	STAB2	12	104136204	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	264067	104136204	29715691	2986	5051											
HSP90B1	7184	broad.mit.edu	37	chr12	104335416	104335416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctctttagctctatgtgCgccgtgtattcatcacagac	9	11	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:104335416C>T	uc001tkb.1	+	9	1345	c.1240C>T	c.(1240-1242)Cgc>Tgc	p.R414C	HSP90B1_uc010swg.1_Missense_Mutation_p.R79C|HSP90B1_uc009zui.1_Intron	NM_003299	NP_003290	P14625	ENPL_HUMAN	Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA.	414					ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GCTCTATGTGCGCCGTGTATT	0.368													T	104335416	C	T	104335416	3	4	4	1	0	0	0	0	1	0	0	0	7403	768	27	1	1278	1	HSP90B1	12	104335416	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	199212	104335416	29516479	2987	5052											
TXNRD1	7296	broad.mit.edu	37	chr12	104682747	104682747	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggaacgctctcggaattgGccgcggaaaccgatctgccc	12	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:104682747G>T	uc021rcx.1	+	3	365	c.343G>T	c.(343-345)Gcc>Tcc	p.A115S	TXNRD1_uc021rcy.1_Missense_Mutation_p.A17S|TXNRD1_uc021rcz.1_5'UTR|TXNRD1_uc021rda.1_Intron|TXNRD1_uc021rdb.1_Intron|TXNRD1_uc010swp.2_5'UTR|TXNRD1_uc010swq.2_Missense_Mutation_p.A15S|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc001tkv.2_5'Flank	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	115	Glutaredoxin.				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	NADP binding|electron carrier activity|flavin adenine dinucleotide binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						CTCGGAATTGGCCGCGGAAAC	0.547													T	104682747	G	T	104682747	3	4	4	1	0	0	0	0	1	0	0	0	16804	1203	42	5	371	5	TXNRD1	12	104682747	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	347331	104682747	29169148	2988	5053											
KIAA1033	23325	broad.mit.edu	37	chr12	105531765	105531765	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaaacctcagttaaggcattGtgcaggcttgttgaacttct	9	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:105531765G>C	uc010swr.2	+	14	1518	c.1431G>C	c.(1429-1431)ttG>ttC	p.L477F	KIAA1033_uc001tld.3_Missense_Mutation_p.L476F|KIAA1033_uc010sws.2_Missense_Mutation_p.L288F	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	476					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TTAAGGCATTGTGCAGGCTTG	0.358													C	105531765	G	C	105531765	3	2	4	1	0	0	0	0	1	0	0	0	8206	1368	48	5	1486	5	KIAA1033	12	105531765	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	849018	105531765	28320130	2989	5054											
MTERFD3	80298	broad.mit.edu	37	chr12	107371846	107371846	+	Frame_Shift_Del	DEL	T	T	-													aatttaacaaaataaatgggTtttggcttaacaattttagt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:107371845_107371845GT>G	uc001tme.1	-	1	2467	c.648_648AC>C	c.(646-648)aacfs	p.N216fs	MTERFD3_uc001tmf.1_Frame_Shift_Del_p.N216fs|MTERFD3_uc001tmg.1_Frame_Shift_Del_p.N216fs|MTERFD3_uc021rdh.1_Frame_Shift_Del_p.N216fs|MTERFD3_uc001tmh.1_Frame_Shift_Del_p.N216fs	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	p.N216T(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						AAATAAATGGGTTTTGGCTTA	0.378													-	107371846	T	-	107371846	7	5	4	1	0	1	0	1	0	0	0	0	9921	1725	60	0	514	0	MTERFD3	12	107371846	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	1840081	107371846	26480049	2990	5055											
ASCL4	121549	broad.mit.edu	37	chr12	108169097	108169097	+	Frame_Shift_Del	DEL	C	C	-													cccggactcccgcggagggaCcccctcagggtcgccctgcg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:108169097delC	uc001tmr.2	+	1	936	c.105delC	c.(103-105)GACfs	p.D35fs		NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN	achaete-scute complex-like 4	34					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)	1						CGCGGAGGGACCCCCTCAGGG	0.741													-	108169097	C	-	108169097	7	5	4	1	0	1	0	1	0	0	0	0	1036	506	18	0	107	0	ASCL4	12	108169097	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	797251	108169097	25682798	2991	5056											
WSCD2	9671	broad.mit.edu	37	chr12	108634152	108634152	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgggaccactggcgcagCggacggaccatctgcatcaa	14	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:108634152C>T	uc001tms.3	+	7	1920	c.1176C>T	c.(1174-1176)agC>agT	p.S392S	WSCD2_uc001tmt.3_Silent_p.S392S|WSCD2_uc001tmu.3_Silent_p.S140S	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	392						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						ACTGGCGCAGCGGACGGACCA	0.607													T	108634152	C	T	108634152	2	4	4	1	0	0	0	0	0	0	0	1	17404	767	27	1		1	WSCD2	12	108634152	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	465055	108634152	25217743	2992	5057											
FICD	11153	broad.mit.edu	37	chr12	108912521	108912521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggggaactcagctctgCgcagggtcatggaggagacc	15	11	3	1	rs151147125		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:108912521C>T	uc001tmx.1	+	2	792	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Homo sapiens FIC domain containing (FICD), mRNA.	216					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CTCAGCTCTGCGCAGGGTCAT	0.542													T	108912521	C	T	108912521	3	4	4	1	0	0	0	0	1	0	0	0	5887	768	27	1	652	1	FICD	12	108912521	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	278369	108912521	24939374	2993	5058											
FICD	11153	broad.mit.edu	37	chr12	108913112	108913112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacgagggcgacgtgaggCctttcattcgcttcatcgcc	11	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:108913112C>T	uc001tmx.1	+	2	1383	c.1237C>T	c.(1237-1239)Cct>Tct	p.P413S		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Homo sapiens FIC domain containing (FICD), mRNA.	413	Fido.				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CGACGTGAGGCCTTTCATTCG	0.592													T	108913112	C	T	108913112	3	4	4	1	0	0	0	0	1	0	0	0	5887	739	26	2	1243	2	FICD	12	108913112	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	591	108913112	24938783	2994	5059											
SELPLG	6404	broad.mit.edu	37	chr12	109017688	109017688	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgggcactggttgagtggtCtgtgcctccgtggctgctgg	18	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:109017688C>A	uc010sxe.2	-	1	621	c.444G>T	c.(442-444)caG>caT	p.Q148H	SELPLG_uc001tni.3_Missense_Mutation_p.Q132H|SELPLG_uc021rdm.1_Intron|SELPLG_uc001tnh.3_Intron	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN	Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.	132	12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GTTGAGTGGTCTGTGCCTCCG	0.607													A	109017688	C	A	109017688	3	1	4	1	0	0	0	0	1	0	0	0	14020	928	32	5		5	SELPLG	12	109017688	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	104576	109017688	24834207	2995	5060											
SELPLG	6404	broad.mit.edu	37	chr12	109017769	109017769	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggttccccatgttggccagCtccgtggtcagctctgtgac	12	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:109017769C>A	uc010sxe.2	-	1	540	c.363G>T	c.(361-363)gaG>gaT	p.E121D	SELPLG_uc001tni.3_Missense_Mutation_p.E105D|SELPLG_uc021rdm.1_Missense_Mutation_p.E105D|SELPLG_uc001tnh.3_Missense_Mutation_p.E105D	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN	Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.	105					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TGTTGGCCAGCTCCGTGGTCA	0.602													A	109017769	C	A	109017769	3	1	4	1	0	0	0	0	1	0	0	0	14020	796	28	5	901	5	SELPLG	12	109017769	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	81	109017769	24834126	2996	5061											
ACACB	32	broad.mit.edu	37	chr12	109577464	109577464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaaaggccccaaagatgCcggtcggcggagaaactccc	11	15	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:109577464C>T	uc001tob.3	+	1	373	c.254C>T	c.(253-255)gCc>gTc	p.A85V	ACACB_uc001toc.3_Missense_Mutation_p.A85V	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	85					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCCAAAGATGCCGGTCGGCGG	0.622													T	109577464	C	T	109577464	3	4	4	1	0	0	0	0	1	0	0	0	107	739	26	2	256	2	ACACB	12	109577464	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	559695	109577464	24274431	2997	5062											
ACACB	32	broad.mit.edu	37	chr12	109639432	109639432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgggtgaagtacatcaagCgtccaggtgccgtgctggaa	15	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:109639432C>T	uc001tob.3	+	18	2958	c.2839C>T	c.(2839-2841)Cgt>Tgt	p.R947C	ACACB_uc001toc.3_Missense_Mutation_p.R947C	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	947	Biotinyl-binding.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GTACATCAAGCGTCCAGGTGC	0.552													T	109639432	C	T	109639432	3	4	4	1	0	0	0	0	1	0	0	0	107	768	27	1	2909	1	ACACB	12	109639432	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	61968	109639432	24212463	2998	5063											
ACACB	32	broad.mit.edu	37	chr12	109687849	109687849	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtggagaatctgaggggCtcaggcatgattgctgggga	19	6	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:109687849C>T	uc001tob.3	+	40	5849	c.5730C>T	c.(5728-5730)ggC>ggT	p.G1910G	ACACB_uc001toc.3_Silent_p.G1910G|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.G576G	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1910	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	ATCTGAGGGGCTCAGGCATGA	0.483													T	109687849	C	T	109687849	2	4	4	1	0	0	0	0	0	0	0	1	107	784	28	2		2	ACACB	12	109687849	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	48417	109687849	24164046	2999	5064											
KCTD10	83892	broad.mit.edu	37	chr12	109898545	109898545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctcgggtaaaggcaccgCcccgtctcgaaggtagttga	13	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:109898545C>T	uc001toj.1	-	2	2020	c.307G>A	c.(307-309)Gcg>Acg	p.A103T	KCTD10_uc001toh.1_5'Flank|KCTD10_uc009zvi.1_Missense_Mutation_p.A92T|KCTD10_uc001toi.1_Missense_Mutation_p.A95T|KCTD10_uc001tok.1_Intron	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 10 (KCTD10), mRNA.	95					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						AAAGGCACCGCCCCGTCTCGA	0.607													T	109898545	C	T	109898545	3	4	4	1	0	0	0	0	1	0	0	0	8097	739	26	2	678	2	KCTD10	12	109898545	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	210696	109898545	23953350	3000	5065											
UBE3B	89910	broad.mit.edu	37	chr12	109962256	109962256	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acattagcgctatgatggggAcatcactgacctgggcctga	12	10	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:109962256A>G	uc001top.3	+	22	3119	c.2516A>G	c.(2515-2517)gAc>gGc	p.D839G	UBE3B_uc001toq.3_Missense_Mutation_p.D839G|UBE3B_uc001tos.3_Missense_Mutation_p.D266G|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Missense_Mutation_p.D839G	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	839	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TATGATGGGGACATCACTGAC	0.562													G	109962256	A	G	109962256	3	3	4	1	0	0	0	0	1	0	0	0	16877	275	10	3	2598	3	UBE3B	12	109962256	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	63711	109962256	23889639	3001	5066											
MVK	4598	broad.mit.edu	37	chr12	110019211	110019211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttcagggccctgccgaGcctggatatcgtagtgtggt	15	9	1	0	rs104895310		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:110019211G>A	uc001toy.4	+	4	567	c.383G>A	c.(382-384)aGc>aAc	p.S128N	MVK_uc009zvk.3_Missense_Mutation_p.S128N|MVK_uc010sxr.2_Intron|MVK_uc001toz.4_Intron|MVK_uc021rdo.1_Missense_Mutation_p.S128N|MVK_uc001tpc.4_Non-coding_Transcript	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA.	128					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GCCCTGCCGAGCCTGGATATC	0.682													A	110019211	G	A	110019211	3	1	4	1	0	0	0	0	1	0	0	0	9995	971	34	2	397	2	MVK	12	110019211	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	56955	110019211	23832684	3002	5067											
TRPV4	59341	broad.mit.edu	37	chr12	110240894	110240894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggatggtgtcgttgcggCcattgctcaggttcagcaag	15	9	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:110240894C>T	uc001tpj.2	-	2	709	c.614G>A	c.(613-615)gGc>gAc	p.G205D	TRPV4_uc001tpg.2_Missense_Mutation_p.G171D|TRPV4_uc021rdp.1_Missense_Mutation_p.G205D|TRPV4_uc001tph.2_Missense_Mutation_p.G205D|TRPV4_uc001tpi.2_Missense_Mutation_p.G205D|TRPV4_uc001tpk.2_Missense_Mutation_p.G205D	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	205					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding	p.N204Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GTCGTTGCGGCCATTGCTCAG	0.577													T	110240894	C	T	110240894	3	4	4	1	0	0	0	0	1	0	0	0	16595	739	26	2	2053	2	TRPV4	12	110240894	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	221683	110240894	23611001	3003	5068											
TCHP	84260	broad.mit.edu	37	chr12	110350854	110350854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgggcccgagagcgcagcGcacgggacagactgatgagc	17	11	0	4	rs147052884	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:110350854G>A	uc001tpn.3	+	9	1264	c.1111G>A	c.(1111-1113)Gca>Aca	p.A371T	TCHP_uc001tpo.1_Non-coding_Transcript|TCHP_uc001tpp.3_Missense_Mutation_p.A371T	NM_001143852	NP_115676	Q9BT92	TCHP_HUMAN	Homo sapiens trichoplein, keratin filament binding (TCHP), transcript variant 2, mRNA.	371	Glu-rich.|Interaction with keratin proteins.|Trichohyalin/plectin homology domain.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding	p.A371T(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						AGAGCGCAGCGCACGGGACAG	0.622													A	110350854	G	A	110350854	3	1	4	1	0	0	0	0	1	0	0	0	15699	1087	38	1	1145	1	TCHP	12	110350854	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	109960	110350854	23501041	3004	5069											
PPP1CC	5501	broad.mit.edu	37	chr12	111169698	111169698	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacattcttaccaggcttggAccctctcactgcaagagaaa	8	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:111169698A>G	uc001tru.3	-	1	335	c.64T>C	c.(64-66)Tcc>Ccc	p.S22P	PPP1CC_uc021rdx.1_Missense_Mutation_p.S22P	NM_002710	NP_002701	P36873	PP1G_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, gamma isozyme (PPP1CC), transcript variant 1, mRNA.	22					cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process	MLL5-L complex|PTW/PP1 phosphatase complex|cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|nuclear speck|nucleolus	metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|large_intestine(2)|lung(3)	6						CCAGGCTTGGACCCTCTCACT	0.393													G	111169698	A	G	111169698	3	3	4	1	0	0	0	0	1	0	0	0	12351	275	10	3	931	3	PPP1CC	12	111169698	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	818844	111169698	22682197	3005	5070											
ATXN2	6311	broad.mit.edu	37	chr12	111895132	111895132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagggtagcgttagggtgCgcatactgctgagcaaggga	17	7	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:111895132C>T	uc001tsj.3	-	21	3564	c.3402G>A	c.(3400-3402)gcG>gcA	p.A1134A	ATXN2_uc001tsh.3_Silent_p.A869A|ATXN2_uc001tsi.3_Silent_p.A827A|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsl.1_Silent_p.A135A	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	1134					RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CGTTAGGGTGCGCATACTGCT	0.537													T	111895132	C	T	111895132	2	4	4	1	0	0	0	0	0	0	0	1	1211	755	27	1		1	ATXN2	12	111895132	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	725434	111895132	21956763	3006	5071											
ERP29	10961	broad.mit.edu	37	chr12	112460288	112460289	+	Frame_Shift_Ins	INS	-	-	G													agcaatacctgaagatcatgINSgggaagatcttagaccaagg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:112460287_112460288T>TG	uc001ttk.1	+	2	735_736	c.617_618T>TG	c.(616-618)atgfs	p.M206fs	ERP29_uc001ttl.1_3'UTR	NM_006817	NP_006808	P30040	ERP29_HUMAN	Homo sapiens endoplasmic reticulum protein 29 (ERP29), transcript variant 1, mRNA.	206					intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						CTGAAGATCATGGGGAAGATCT	0.545													G	112460289	-	G	112460288	7	5	4	1	0	1	1	0	0	0	0	0	5242	1348	47	0	628	0	ERP29	12	112460288	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	565156	112460288	21391607	3007	5072											
NAA25	80018	broad.mit.edu	37	chr12	112513574	112513574	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catttattttcccgactctgAatctcacttgtcaacttctc	3	13	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:112513574A>T	uc001ttm.3	-	7	742	c.684T>A	c.(682-684)atT>atA	p.I228I	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Silent_p.I200I|NAA25_uc009zwa.2_Silent_p.I228I	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	228						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CCCGACTCTGAATCTCACTTG	0.413													T	112513574	A	T	112513574	2	4	4	1	0	0	0	0	0	0	0	1	10121	242	9	5		5	NAA25	12	112513574	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	53286	112513574	21338321	3008	5073											
TRAFD1	10906	broad.mit.edu	37	chr12	112589844	112589844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagccagaatggggccataGcccctgggcacgtttcagtg	13	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:112589844G>A	uc001ttp.3	+	9	1605	c.1519G>A	c.(1519-1521)Gcc>Acc	p.A507T	TRAFD1_uc001tto.3_Missense_Mutation_p.A507T	NM_006700	NP_006691	O14545	TRAD1_HUMAN	Homo sapiens TRAF-type zinc finger domain containing 1 (TRAFD1), transcript variant 2, mRNA.	507					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						TGGGGCCATAGCCCCTGGGCA	0.582													A	112589844	G	A	112589844	3	1	4	1	0	0	0	0	1	0	0	0	16444	971	34	2	1553	2	TRAFD1	12	112589844	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	76270	112589844	21262051	3009	5074											
C12orf51	283450	broad.mit.edu	37	chr12	112632704	112632704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttacctgggagaggaggtgCgaggagctgattggacagca	17	6	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:112632704C>T	uc021reb.1	-	55	8728	c.8332G>A	c.(8332-8334)Gca>Aca	p.A2778T		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						AGAGGAGGTGCGAGGAGCTGA	0.582													T	112632704	C	T	112632704	3	4	4	1	0	0	0	0	1	0	0	0	1696	768	27	1	4606	1	C12orf51	12	112632704	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	42860	112632704	21219191	3010	5075											
C12orf51	283450	broad.mit.edu	37	chr12	112657288	112657288	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctccacaactgcaagtcGctctcctgtagagggcacat	8	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:112657288G>A	uc021reb.1	-	44	6970	c.6574C>T	c.(6574-6576)Cga>Tga	p.R2192*	C12orf51_uc001ttr.1_Nonsense_Mutation_p.R79*	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						ACTGCAAGTCGCTCTCCTGTA	0.532													A	112657288	G	A	112657288	4	1	4	1	0	0	0	0	0	1	0	0	1696	1095	38	1	6408	1	C12orf51	12	112657288	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	24584	112657288	21194607	3011	5076											
C12orf51	283450	broad.mit.edu	37	chr12	112721041	112721041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaatgcttttggcagattcGccctcttttctcattagaat	6	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:112721041G>A	uc021reb.1	-	7	1365	c.969C>T	c.(967-969)ggC>ggT	p.G323G		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TGGCAGATTCGCCCTCTTTTC	0.428													A	112721041	G	A	112721041	2	1	4	1	0	0	0	0	0	0	0	1	1696	1074	38	1		1	C12orf51	12	112721041	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	63753	112721041	21130854	3012	5077											
OAS2	4939	broad.mit.edu	37	chr12	113433214	113433214	+	Frame_Shift_Del	DEL	T	T	-													tcactgaactccagcagaagTtttttgacaaccgtcctgga							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:113433213_113433213GT>G	uc001tuj.3	+	2	701	c.561_561GT>G	c.(559-561)aagfs	p.K187fs	OAS2_uc001tui.1_Frame_Shift_Del_p.K187fs	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	187	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCCAGCAGAAGTTTTTTGACA	0.423													-	113433214	T	-	113433214	7	5	4	1	0	1	0	1	0	0	0	0	10800	1725	60	0	643	0	OAS2	12	113433214	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	712173	113433214	20418681	3013	5078											
DTX1	1840	broad.mit.edu	37	chr12	113515327	113515327	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgacggcggcgcatggacgGcctacgatatggacatctgc	14	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:113515327G>T	uc001tuk.1	+	1	694	c.358G>T	c.(358-360)Gcc>Tcc	p.A120S		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	120	WWE 2.				Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.A120A(3)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGCATGGACGGCCTACGATAT	0.627													T	113515327	G	T	113515327	3	4	4	1	0	0	0	0	1	0	0	0	4793	1203	42	5	364	5	DTX1	12	113515327	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	82113	113515327	20336568	3014	5079											
RASAL1	8437	broad.mit.edu	37	chr12	113545988	113545988	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggcaggtgcgaagaatcGcaagaagagaaatccactga	13	7	0	4	rs145374624		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:113545988G>A	uc001tun.2	-	14	1718	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*	RASAL1_uc010syp.2_Nonsense_Mutation_p.R472*|RASAL1_uc001tul.3_Nonsense_Mutation_p.R472*|RASAL1_uc001tum.2_Nonsense_Mutation_p.R472*|RASAL1_uc010syq.2_Nonsense_Mutation_p.R472*|RASAL1_uc001tuo.4_Nonsense_Mutation_p.R472*|RASAL1_uc010syr.2_Nonsense_Mutation_p.R472*	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	472	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GCGAAGAATCGCAAGAAGAGA	0.557													A	113545988	G	A	113545988	4	1	4	1	0	0	0	0	0	1	0	0	13063	1095	38	1	1032	1	RASAL1	12	113545988	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	30661	113545988	20305907	3015	5080											
DDX54	79039	broad.mit.edu	37	chr12	113612541	113612541	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtggagcagcacggcAgccttggtgtcctcccgcac	14	14	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:113612541A>T	uc001tuq.4	-	9	1000	c.972T>A	c.(970-972)gcT>gcA	p.A324A	DDX54_uc001tup.3_Silent_p.A324A	NM_001111322	NP_001104792	Q8TDD1	DDX54_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 (DDX54), transcript variant 1, mRNA.	324					RNA processing|estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|estrogen receptor binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCAGCACGGCAGCCTTGGTGT	0.657											OREG0022139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	113612541	A	T	113612541	2	4	4	1	0	0	0	0	0	0	0	1	4372	175	7	5		5	DDX54	12	113612541	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	66553	113612541	20239354	3016	5081											
PLBD2	196463	broad.mit.edu	37	chr12	113822727	113822727	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccagccccgggagccgggTgcttaccatcctggagcaga	14	15	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:113822727T>C	uc001tve.2	+	7	1225	c.1190T>C	c.(1189-1191)gTg>gCg	p.V397A	PLBD2_uc001tvf.2_Intron	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	397					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GGGAGCCGGGTGCTTACCATC	0.672													C	113822727	T	C	113822727	3	2	4	1	0	0	0	0	1	0	0	0	12026	1696	59	3	1220	3	PLBD2	12	113822727	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	210186	113822727	20029168	3017	5082											
SDS	10993	broad.mit.edu	37	chr12	113830802	113830802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgagcgcccgcagctgggCcaggctgatgttgctgcccc	14	15	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:113830802C>T	uc001tvg.3	-	7	1053	c.931G>A	c.(931-933)Gcc>Acc	p.A311T		NM_006843	NP_006834	P20132	SDHL_HUMAN	Homo sapiens serine dehydratase (SDS), mRNA.	311					L-serine catabolic process|gluconeogenesis|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CGCAGCTGGGCCAGGCTGATG	0.607													T	113830802	C	T	113830802	3	4	4	1	0	0	0	0	1	0	0	0	13975	739	26	2	59	2	SDS	12	113830802	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	8075	113830802	20021093	3018	5083											
FBXO21	23014	broad.mit.edu	37	chr12	117604880	117604880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcaaagatgtccagggtcGccctatccaaagagccaaat	9	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:117604880G>A	uc001twk.3	-	7	1055	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V	FBXO21_uc001twj.3_Missense_Mutation_p.A339V|FBXO21_uc009zwq.3_Intron	NM_033624	NP_296373	O94952	FBX21_HUMAN	Homo sapiens F-box protein 21 (FBXO21), transcript variant 1, mRNA.	339					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.A339V(2)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GTCCAGGGTCGCCCTATCCAA	0.448													A	117604880	G	A	117604880	3	1	4	1	0	0	0	0	1	0	0	0	5733	1087	38	1	890	1	FBXO21	12	117604880	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3774078	117604880	16247015	3019	5084											
NOS1	4842	broad.mit.edu	37	chr12	117672544	117672544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcccgttggtgtggagacGcacgaagatagttgaccgac	14	10	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:117672544G>A	uc001twn.2	-	21	3874	c.3163C>T	c.(3163-3165)Cgt>Tgt	p.R1055C	NOS1_uc021ren.1_Missense_Mutation_p.R685C|NOS1_uc021reo.1_Missense_Mutation_p.R685C|NOS1_uc001twm.2_Missense_Mutation_p.R1021C	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1021	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTGTGGAGACGCACGAAGATA	0.552													A	117672544	G	A	117672544	3	1	4	1	0	0	0	0	1	0	0	0	10541	1087	38	1	1279	1	NOS1	12	117672544	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	67664	117672544	16179351	3020	5085											
NOS1	4842	broad.mit.edu	37	chr12	117705930	117705930	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgtcttcctcatgtctaagTtcatcttcttggccacttcc	5	14	6	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:117705930T>C	uc001twn.2	-	10	2570	c.1859A>G	c.(1858-1860)aAc>aGc	p.N620S	NOS1_uc021ren.1_Missense_Mutation_p.N284S|NOS1_uc021reo.1_Missense_Mutation_p.N284S|NOS1_uc001twm.2_Missense_Mutation_p.N620S	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	620					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CATGTCTAAGTTCATCTTCTT	0.522													C	117705930	T	C	117705930	3	2	4	1	0	0	0	0	1	0	0	0	10541	1725	60	3	2521	3	NOS1	12	117705930	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	33386	117705930	16145965	3021	5086											
KSR2	283455	broad.mit.edu	37	chr12	118105353	118105353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtcccacaaagaaggagCggagggagcgctcggacagc	16	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:118105353C>T	uc001two.2	-	4	1065	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	366					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAAGAAGGAGCGGAGGGAGCG	0.602													T	118105353	C	T	118105353	3	4	4	1	0	0	0	0	1	0	0	0	8582	768	27	1	1819	1	KSR2	12	118105353	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	399423	118105353	15746542	3022	5087											
KSR2	283455	broad.mit.edu	37	chr12	118199014	118199014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgacgatgttgggggtgCgcggcggggtgcggaccgcg	23	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:118199014C>T	uc001two.2	-	3	756	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	263	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTTGGGGGTGCGCGGCGGGGT	0.751													T	118199014	C	T	118199014	3	4	4	1	0	0	0	0	1	0	0	0	8582	768	27	1	2132	1	KSR2	12	118199014	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	93661	118199014	15652881	3023	5088											
VSIG10	54621	broad.mit.edu	37	chr12	118506296	118506296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaactcctctctctcacGtgctccctcctgttccccta	5	19	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:118506296G>A	uc001tws.3	-	7	1787	c.1453C>T	c.(1453-1455)Cgt>Tgt	p.R485C		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	485	Glu-rich.					integral to membrane		p.R485C(2)		endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TCTCTCTCACGTGCTCCCTCC	0.493													A	118506296	G	A	118506296	3	1	4	1	0	0	0	0	1	0	0	0	17220	1145	40	1	177	1	VSIG10	12	118506296	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	307282	118506296	15345599	3024	5089											
VSIG10	54621	broad.mit.edu	37	chr12	118517172	118517172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctgcaccatgcagctggCgcccgactctggcccaacta	10	16	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:118517172C>T	uc001tws.3	-	3	1238	c.904G>A	c.(904-906)Gcc>Acc	p.A302T		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	302	Ig-like C2-type 3.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						ATGCAGCTGGCGCCCGACTCT	0.522													T	118517172	C	T	118517172	3	4	4	1	0	0	0	0	1	0	0	0	17220	768	27	1	742	1	VSIG10	12	118517172	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	10876	118517172	15334723	3025	5090											
TAOK3	51347	broad.mit.edu	37	chr12	118627718	118627718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcctgggatcgccgtggCccgcctcatcccttatgaat	11	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:118627718C>T	uc001twx.3	-	13	1518	c.1223G>A	c.(1222-1224)gGc>gAc	p.G408D	TAOK3_uc001twv.3_5'UTR|TAOK3_uc001tww.3_Missense_Mutation_p.G238D|TAOK3_uc001twy.4_Missense_Mutation_p.G408D	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	Homo sapiens TAO kinase 3 (TAOK3), mRNA.	408					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCGCCGTGGCCCGCCTCATC	0.572													T	118627718	C	T	118627718	3	4	4	1	0	0	0	0	1	0	0	0	15546	739	26	2	1505	2	TAOK3	12	118627718	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	110546	118627718	15224177	3026	5091											
SUDS3	64426	broad.mit.edu	37	chr12	118828947	118828947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagactgaacaagtggaacGaaattacattaaagaaaaga	8	5	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:118828947G>A	uc001twz.3	+	5	516	c.377G>A	c.(376-378)cGa>cAa	p.R126Q		NM_022491	NP_071936	Q9H7L9	SDS3_HUMAN	Homo sapiens suppressor of defective silencing 3 homolog (S. cerevisiae) (SUDS3), mRNA.	126					chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAAGTGGAACGAAATTACATT	0.453													A	118828947	G	A	118828947	3	1	4	1	0	0	0	0	1	0	0	0	15366	1058	37	1	399	1	SUDS3	12	118828947	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	201229	118828947	15022948	3027	5092											
SRRM4	84530	broad.mit.edu	37	chr12	119583293	119583293	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggaaatgacacgtcctcGccaccctccacgcaaaccag	7	17	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:119583293G>A	uc001txa.2	+	8	1267	c.879G>A	c.(877-879)tcG>tcA	p.S293S		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	293	Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding	p.S292S(1)|p.S292A(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ACACGTCCTCGCCACCCTCCA	0.632													A	119583293	G	A	119583293	2	1	4	1	0	0	0	0	0	0	0	1	15170	1074	38	1		1	SRRM4	12	119583293	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	754346	119583293	14268602	3028	5093											
SRRM4	84530	broad.mit.edu	37	chr12	119588980	119588980	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgatccccaaatcccagggCttcccccaggtacacccaaa	6	19	0	0	rs56390632		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:119588980C>A	uc001txa.2	+	9	1623	c.1235C>A	c.(1234-1236)gCt>gAt	p.A412D		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	412	Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AATCCCAGGGCTTCCCCCAGG	0.552													A	119588980	C	A	119588980	3	1	4	1	0	0	0	0	1	0	0	0	15170	797	28	5	1273	5	SRRM4	12	119588980	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	5687	119588980	14262915	3029	5094											
CIT	11113	broad.mit.edu	37	chr12	120142248	120142248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggctgcacagatgcagaGcccgttctcaatctgaaaag	10	11	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:120142248G>A	uc001txj.2	-	40	5280	c.5224C>T	c.(5224-5226)Ctc>Ttc	p.L1742F	CIT_uc001txh.2_Missense_Mutation_p.L1219F|CIT_uc001txi.2_Missense_Mutation_p.L1700F	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1700	CNH.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CAGATGCAGAGCCCGTTCTCA	0.507													A	120142248	G	A	120142248	3	1	4	1	0	0	0	0	1	0	0	0	3438	971	34	2	1017	2	CIT	12	120142248	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	553268	120142248	13709647	3030	5095											
ACADS	35	broad.mit.edu	37	chr12	121175675	121175675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagctgcgtccaccaccGcccgggccgagggcgactca	14	17	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:121175675G>A	uc001tza.4	+	4	626	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	ACADS_uc010szl.1_Intron	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	170						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GTCCACCACCGCCCGGGCCGA	0.652													A	121175675	G	A	121175675	3	1	4	1	0	0	0	0	1	0	0	0	114	1087	38	1	526	1	ACADS	12	121175675	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1033427	121175675	12676220	3031	5096											
ACADS	35	broad.mit.edu	37	chr12	121177116	121177116	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccatccagatcctgggCggcatgggctacgtgacaga	14	12	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:121177116C>T	uc001tza.4	+	9	1222	c.1104C>T	c.(1102-1104)ggC>ggT	p.G368G		NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	368						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	AGATCCTGGGCGGCATGGGCT	0.642													T	121177116	C	T	121177116	2	4	4	1	0	0	0	0	0	0	0	1	114	755	27	1		1	ACADS	12	121177116	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1441	121177116	12674779	3032	5097											
SPPL3	121665	broad.mit.edu	37	chr12	121205248	121205248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggagaccttctgcatgcGcccggagatgttggcaggtc	15	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:121205248G>A	uc001tzd.3	-	8	1407	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	SPPL3_uc001tzc.3_Missense_Mutation_p.R138C	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN	Homo sapiens signal peptide peptidase-like 3 (SPPL3), mRNA.	309						integral to membrane	aspartic-type endopeptidase activity	p.R308C(1)				all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTCTGCATGCGCCCGGAGATG	0.547													A	121205248	G	A	121205248	3	1	4	1	0	0	0	0	1	0	0	0	15089	1087	38	1	244	1	SPPL3	12	121205248	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	28132	121205248	12646647	3033	5098											
WDR66	144406	broad.mit.edu	37	chr12	122359496	122359496	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaggaatacaggaagaAaccacagtagagccccaaga	10	10	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:122359496A>C	uc009zxk.3	+	1	444	c.285A>C	c.(283-285)gaA>gaC	p.E95D	WDR66_uc021rfh.1_Missense_Mutation_p.E95D	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	95	Glu-rich.						calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TACAGGAAGAAACCACAGTAG	0.473													C	122359496	A	C	122359496	3	2	4	1	0	0	0	0	1	0	0	0	17314	11	1	5	287	5	WDR66	12	122359496	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1154248	122359496	11492399	3034	5099											
WDR66	144406	broad.mit.edu	37	chr12	122372182	122372182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatattatctcctgcctctgCgtcagtgaagacaggcggtg	11	10	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:122372182C>T	uc009zxk.3	+	4	1077	c.918C>T	c.(916-918)tgC>tgT	p.C306C	WDR66_uc021rfh.1_Silent_p.C306C	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	306							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CCTGCCTCTGCGTCAGTGAAG	0.532													T	122372182	C	T	122372182	2	4	4	1	0	0	0	0	0	0	0	1	17314	776	27	1		1	WDR66	12	122372182	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	12686	122372182	11479713	3035	5100											
WDR66	144406	broad.mit.edu	37	chr12	122396992	122396992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatgactcccagtatatgGcaactgctgtaagtattttc	7	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:122396992G>A	uc009zxk.3	+	12	2284	c.2125G>A	c.(2125-2127)Gca>Aca	p.A709T	WDR66_uc021rfh.1_Missense_Mutation_p.A709T	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	709							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CCAGTATATGGCAACTGCTGT	0.403													A	122396992	G	A	122396992	3	1	4	1	0	0	0	0	1	0	0	0	17314	1203	42	2	2171	2	WDR66	12	122396992	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	24810	122396992	11454903	3036	5101											
B3GNT4	79369	broad.mit.edu	37	chr12	122691165	122691165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggataccttcttgctcctgGccatcaagtcacagcctggt	9	13	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:122691165G>A	uc001ubx.3	+	2	585	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	B3GNT4_uc001uby.3_Missense_Mutation_p.A98T	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GNT4), mRNA.	123					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CTTGCTCCTGGCCATCAAGTC	0.602													A	122691165	G	A	122691165	3	1	4	1	0	0	0	0	1	0	0	0	1259	1203	42	2	373	2	B3GNT4	12	122691165	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	294173	122691165	11160730	3037	5102											
VPS33A	65082	broad.mit.edu	37	chr12	122716928	122716928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatttcagcgaaggttacGcccccaaggaaaaatatcag	9	10	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:122716928G>A	uc001ucd.3	-	12	1769	c.1656C>T	c.(1654-1656)ggC>ggT	p.G552G	VPS33A_uc001ucc.3_Non-coding_Transcript	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA.	552					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CGAAGGTTACGCCCCCAAGGA	0.393													A	122716928	G	A	122716928	2	1	4	1	0	0	0	0	0	0	0	1	17198	1074	38	1		1	VPS33A	12	122716928	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	25763	122716928	11134967	3038	5103											
CLIP1	6249	broad.mit.edu	37	chr12	122773037	122773037	+	Splice_Site	DEL	T	T	-													caataaacagaaagcttaccTttttttcatttctaacaact							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:122773036_122773036CT>C	uc001ucg.2	-	21	3802	c.3647_splice	c.e21+1	p.R1216_splice	CLIP1_uc001uch.1_Splice_Site_p.R1205_splice|CLIP1_uc001uci.1_Splice_Site_p.R1170_splice|CLIP1_uc001ucj.1_Splice_Site_p.R791_splice	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1216					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GAAAGCTTACCTTTTTTTCAT	0.328													-	122773037	T	-	122773037	8	5	4	1	0	1	0	1	0	0	1	0	3532	1623	56	0	694	0	CLIP1	12	122773037	Splice_Site	DEL	T	TCGA-BR-4184-01A-01D-1126-08	56109	122773037	11078858	3039	5104											
CCDC62	84660	broad.mit.edu	37	chr12	123273396	123273396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctacgtgatgccaagatggCggagacttgtattgtgaaag	13	7	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:123273396C>T	uc001udc.3	+	4	752	c.590C>T	c.(589-591)gCg>gTg	p.A197V	CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Intron|CCDC62_uc021rfn.1_Missense_Mutation_p.A12V	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	197						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GCCAAGATGGCGGAGACTTGT	0.368													T	123273396	C	T	123273396	3	4	4	1	0	0	0	0	1	0	0	0	2833	768	27	1	608	1	CCDC62	12	123273396	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	500359	123273396	10578499	3040	5105											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123648504	123648504	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctaactcttacttggagtActtgatttacgatttgaagg	8	6	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:123648504A>G	uc001uel.3	-	14	2553	c.2445T>C	c.(2443-2445)agT>agC	p.S815S	MPHOSPH9_uc010tal.2_Silent_p.S269S|MPHOSPH9_uc010tam.2_Non-coding_Transcript|MPHOSPH9_uc001uem.3_Silent_p.S269S	NM_022782	NP_073619	Q99550	MPP9_HUMAN	Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA.	815					M phase of mitotic cell cycle	Golgi membrane|centriole				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TACTTGGAGTACTTGATTTAC	0.428													G	123648504	A	G	123648504	2	3	4	1	0	0	0	0	0	0	0	1	9728	388	14	3		3	MPHOSPH9	12	123648504	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	375108	123648504	10203391	3041	5106											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123687564	123687564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcaagggcattcggaaggCcgtgaggttgaatccctgaa	13	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:123687564C>T	uc001uel.3	-	5	1040	c.932G>A	c.(931-933)gGc>gAc	p.G311D	MPHOSPH9_uc010tal.2_Intron|MPHOSPH9_uc010tam.2_Non-coding_Transcript|MPHOSPH9_uc001uem.3_Intron	NM_022782	NP_073619	Q99550	MPP9_HUMAN	Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA.	311					M phase of mitotic cell cycle	Golgi membrane|centriole				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		ATTCGGAAGGCCGTGAGGTTG	0.473													T	123687564	C	T	123687564	3	4	4	1	0	0	0	0	1	0	0	0	9728	739	26	2	2223	2	MPHOSPH9	12	123687564	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	39060	123687564	10164331	3042	5107											
RILPL2	196383	broad.mit.edu	37	chr12	123915117	123915117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttgagtttgttgcgttcCtgcagcacatcccttagctc	9	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:123915117C>T	uc001uey.1	-	1	726	c.429G>A	c.(427-429)caG>caA	p.Q143Q		NM_145058	NP_659495	Q969X0	RIPL2_HUMAN	Homo sapiens Rab interacting lysosomal protein-like 2 (RILPL2), mRNA.	143	RILP-like.					cytosol|plasma membrane	identical protein binding			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		TGTTGCGTTCCTGCAGCACAT	0.572													T	123915117	C	T	123915117	2	4	4	1	0	0	0	0	0	0	0	1	13362	680	24	4		4	RILPL2	12	123915117	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	227553	123915117	9936778	3043	5108											
RILPL1	353116	broad.mit.edu	37	chr12	123957201	123957201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctgtgtgttggccaggcGcttcttatctcgggagaaga	13	9	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:123957201G>A	uc001ufe.2	-	6	1332	c.1096C>T	c.(1096-1098)Cgc>Tgc	p.R366C	RILPL1_uc001ufd.2_Missense_Mutation_p.R215C|RILPL1_uc010tas.1_3'UTR	NM_178314	NP_847884	Q5EBL4	RIPL1_HUMAN	Homo sapiens Rab interacting lysosomal protein-like 1 (RILPL1), mRNA.	366					neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		TTGGCCAGGCGCTTCTTATCT	0.512													A	123957201	G	A	123957201	3	1	4	1	0	0	0	0	1	0	0	0	13361	1087	38	1	119	1	RILPL1	12	123957201	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	42084	123957201	9894694	3044	5109											
GTF2H3	2967	broad.mit.edu	37	chr12	124144112	124144112	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaaggtgcctcagatgccttCtcttctgcagtatttgctgg	11	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:124144112C>A	uc001ufo.1	+	9	691	c.665C>A	c.(664-666)tCt>tAt	p.S222Y	GTF2H3_uc010tau.1_Missense_Mutation_p.S181Y	NM_001516	NP_001507	Q13889	TF2H3_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 3, 34kDa (GTF2H3), mRNA.	222					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		CAGATGCCTTCTCTTCTGCAG	0.552								Nucleotide excision repair (NER)					A	124144112	C	A	124144112	3	1	4	1	0	0	0	0	1	0	0	0	6864	913	32	5	703	5	GTF2H3	12	124144112	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	186911	124144112	9707783	3045	5110											
DNAH10	196385	broad.mit.edu	37	chr12	124337847	124337847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggactcagagccctgaaatCggtgctggtcatggctggtg	15	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:124337847C>T	uc001uft.4	+	34	6057	c.6032C>T	c.(6031-6033)tCg>tTg	p.S2011L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2011	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCCCTGAAATCGGTGCTGGTC	0.527													T	124337847	C	T	124337847	3	4	4	1	0	0	0	0	1	0	0	0	4598	893	31	1	6170	1	DNAH10	12	124337847	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	193735	124337847	9514048	3046	5111											
CCDC92	80212	broad.mit.edu	37	chr12	124422003	124422003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgcggcggcgaggcgtttCgggtagcttgtctttggggg	19	8	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:124422003C>T	uc001ufw.1	-	4	745	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	CCDC92_uc001ufv.1_Missense_Mutation_p.E183K|CCDC92_uc001ufx.1_Missense_Mutation_p.E200K	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA.	200										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CGAGGCGTTTCGGGTAGCTTG	0.602													T	124422003	C	T	124422003	3	4	4	1	0	0	0	0	1	0	0	0	2871	893	31	1	401	1	CCDC92	12	124422003	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	84156	124422003	9429892	3047	5112											
FAM101A	144347	broad.mit.edu	37	chr12	124798908	124798908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacgcccgcgcgccctgcGcttccgcagcaccaccatca	9	22	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:124798908G>A	uc021rfy.1	+	4	751	c.245G>A	c.(244-246)cGc>cAc	p.R82H	FAM101A_uc001ugd.2_Missense_Mutation_p.R82H|FAM101A_uc001uge.2_Missense_Mutation_p.R82H	NM_001204299	NP_001191228	Q6ZTI6	F101A_HUMAN	Homo sapiens protein FAM101A (ZNF664-FAM101A), mRNA.	163										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		CGCGCCCTGCGCTTCCGCAGC	0.687													A	124798908	G	A	124798908	3	1	4	1	0	0	0	0	1	0	0	0	5380	1087	38	1	251	1	FAM101A	12	124798908	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	376905	124798908	9052987	3048	5113											
NCOR2	9612	broad.mit.edu	37	chr12	124824566	124824566	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccacctcaggaccgtgggCgtgctgggctccacagcggt	15	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:124824566C>T	uc021rga.1	-	36	5811	c.5694G>A	c.(5692-5694)acG>acA	p.T1898T	NCOR2_uc021rgb.1_Silent_p.T1882T|NCOR2_uc010tbb.2_Silent_p.T1891T|NCOR2_uc010tbc.2_Silent_p.T1881T|NCOR2_uc021rgc.1_Silent_p.T1881T|NCOR2_uc010tba.2_Silent_p.T1899T|NCOR2_uc010tax.2_Silent_p.T12T	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1902					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGACCGTGGGCGTGCTGGGCT	0.637													T	124824566	C	T	124824566	2	4	4	1	0	0	0	0	0	0	0	1	10236	755	27	1		1	NCOR2	12	124824566	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	25658	124824566	9027329	3049	5114											
NCOR2	9612	broad.mit.edu	37	chr12	124857100	124857100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctgccctgtgtccttggCggcctcagtgtgaggagagg	15	10	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:124857100C>T	uc021rga.1	-	19	2392	c.2275G>A	c.(2275-2277)Gcc>Acc	p.A759T	NCOR2_uc021rgb.1_Missense_Mutation_p.A742T|NCOR2_uc010tbb.2_Missense_Mutation_p.A759T|NCOR2_uc010tbc.2_Missense_Mutation_p.A741T|NCOR2_uc021rgc.1_Missense_Mutation_p.A741T|NCOR2_uc010tba.2_Missense_Mutation_p.A759T|NCOR2_uc001ugj.1_Missense_Mutation_p.A759T	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	759					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTGTCCTTGGCGGCCTCAGTG	0.687													T	124857100	C	T	124857100	3	4	4	1	0	0	0	0	1	0	0	0	10236	768	27	1	5405	1	NCOR2	12	124857100	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	32534	124857100	8994795	3050	5115											
UBC	7316	broad.mit.edu	37	chr12	125396267	125396267	+	Frame_Shift_Del	DEL	C	C	-													taaaaggggaaacttagacaCcccccctcaagcgcaggacc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:125396266_125396266AC>A	uc001ugs.4	-	1	2510	c.2052_2052GT>T	c.(2050-2052)ggtfs	p.G684fs	UBC_uc001ugr.3_Non-coding_Transcript|UBC_uc001ugt.3_Frame_Shift_Del_p.G532fs|UBC_uc001ugu.1_Frame_Shift_Del_p.G608fs|UBC_uc001ugv.3_Frame_Shift_Del_p.G152fs|UBC_uc021rge.1_Frame_Shift_Del_p.G684fs	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	684	Ubiquitin-like 9.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AAACTTAGACACCCCCCCTCA	0.413													-	125396267	C	-	125396267	7	5	4	1	0	1	0	1	0	0	0	0	16839	507	18	0	10	0	UBC	12	125396267	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	539167	125396267	8455628	3051	5116											
UBC	7316	broad.mit.edu	37	chr12	125397670	125397671	+	Frame_Shift_Del	DEL	CT	CT	-													agtaccaggtgcaaggtggaCtctttctggatgttgtagtc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:125397669_125397670ACT>A	uc001ugs.4	-	1	1106_1107	c.648_649AGT>T	c.(646-651)gagtccfs	p.E216fs	UBC_uc001ugr.3_5'Flank|UBC_uc001ugt.3_Frame_Shift_Del_p.E216fs|UBC_uc001ugu.1_Frame_Shift_Del_p.E216fs|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Frame_Shift_Del_p.E216fs|UBC_uc001ugw.3_Frame_Shift_Del_p.E64fs	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	216	Ubiquitin-like 3.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGCAAGGTGGACTCTTTCTGGA	0.51													-	125397671	CT	-	125397670	7	5	4	1	0	1	0	1	0	0	0	0	16839	564	20	0	1413	0	UBC	12	125397670	Frame_Shift_Del	DEL	CT	TCGA-BR-4184-01A-01D-1126-08	1403	125397670	8454225	3052	5117											
DHX37	57647	broad.mit.edu	37	chr12	125448952	125448952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacccacctgtagcagtggCcgggctccgtccgtcctgct	12	16	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:125448952C>T	uc001ugy.3	-	14	2132	c.2033G>A	c.(2032-2034)gGc>gAc	p.G678D		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	678	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GTAGCAGTGGCCGGGCTCCGT	0.642													T	125448952	C	T	125448952	3	4	4	1	0	0	0	0	1	0	0	0	4510	739	26	2	1492	2	DHX37	12	125448952	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	51282	125448952	8402943	3053	5118											
TMEM132B	114795	broad.mit.edu	37	chr12	125900205	125900205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcacctgcatgggccatcGcccggacacgcagagcaggt	12	16	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:125900205G>A	uc001uhe.1	+	2	1081	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	TMEM132B_uc021rgl.1_Missense_Mutation_p.R248H	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	358						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ATGGGCCATCGCCCGGACACG	0.592													A	125900205	G	A	125900205	3	1	4	1	0	0	0	0	1	0	0	0	16043	1087	38	1	1083	1	TMEM132B	12	125900205	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	451253	125900205	7951690	3054	5119											
TMEM132B	114795	broad.mit.edu	37	chr12	126138478	126138478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagtaattccatagagcGcgaaggaaaccaggagagag	12	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:126138478G>A	uc001uhe.1	+	8	2467	c.2459G>A	c.(2458-2460)cGc>cAc	p.R820H	TMEM132B_uc001uhf.1_Missense_Mutation_p.R332H	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	820						integral to membrane		p.R820C(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCCATAGAGCGCGAAGGAAAC	0.498													A	126138478	G	A	126138478	3	1	4	1	0	0	0	0	1	0	0	0	16043	1087	38	1	2493	1	TMEM132B	12	126138478	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	238273	126138478	7713417	3055	5120											
FZD10	11211	broad.mit.edu	37	chr12	130647640	130647640	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcggctacaacatgactcgTatgcccaacctgatgggcca	9	13	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:130647640T>C	uc001uii.3	+	0	637	c.153T>C	c.(151-153)cgT>cgC	p.R51R	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	51	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		ACATGACTCGTATGCCCAACC	0.647													C	130647640	T	C	130647640	2	2	4	1	0	0	0	0	0	0	0	1	6129	1625	57	3		3	FZD10	12	130647640	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	4509162	130647640	3204255	3056	5121											
PIWIL1	9271	broad.mit.edu	37	chr12	130842068	130842068	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcctacttaagagtcttAcagcaaaaggtcacagcaga	9	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:130842068A>G	uc001uik.3	+	13	1906	c.1635A>G	c.(1633-1635)ttA>ttG	p.L545L	PIWIL1_uc001uij.2_Silent_p.L545L	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	545	RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TAAGAGTCTTACAGCAAAAGG	0.418													G	130842068	A	G	130842068	2	3	4	1	0	0	0	0	0	0	0	1	11957	388	14	3		3	PIWIL1	12	130842068	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	194428	130842068	3009827	3057	5122											
RIMBP2	23504	broad.mit.edu	37	chr12	130919323	130919323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaagtcgtccaccgaggCgcccctcctcttgaagtctg	11	15	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:130919323C>T	uc001uil.2	-	10	2374	c.2158G>A	c.(2158-2160)Gcc>Acc	p.A720T	RIMBP2_uc001uim.3_Missense_Mutation_p.A628T	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	720						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCCACCGAGGCGCCCCTCCTC	0.647													T	130919323	C	T	130919323	3	4	4	1	0	0	0	0	1	0	0	0	13363	768	27	1	1036	1	RIMBP2	12	130919323	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	77255	130919323	2932572	3058	5123											
ULK1	8408	broad.mit.edu	37	chr12	132399917	132399917	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccaggctggagcgggacGccctccccacagggagctga	16	15	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:132399917G>A	uc001uje.3	+	17	1828	c.1560G>A	c.(1558-1560)acG>acA	p.T520T		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	520					autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GGAGCGGGACGCCCTCCCCAC	0.672													A	132399917	G	A	132399917	2	1	4	1	0	0	0	0	0	0	0	1	16972	1074	38	1		1	ULK1	12	132399917	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1480594	132399917	1451978	3059	5124											
EP400	57634	broad.mit.edu	37	chr12	132514593	132514593	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatctgaaggacgtcgggtgCtgattttatcacagatgatt	11	6	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:132514593C>A	uc001ujn.3	+	28	5796	c.5644C>A	c.(5644-5646)Ctg>Atg	p.L1882M	EP400_uc021rgq.1_Missense_Mutation_p.L1881M|EP400_uc001ujm.3_Missense_Mutation_p.L1801M|SNORA49_uc001ujo.3_5'Flank	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1918					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACGTCGGGTGCTGATTTTATC	0.418													A	132514593	C	A	132514593	3	1	4	1	0	0	0	0	1	0	0	0	5149	796	28	5	5751	5	EP400	12	132514593	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	114676	132514593	1337302	3060	5125											
EP400	57634	broad.mit.edu	37	chr12	132529374	132529374	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacccaccccgccgcaggaCgacagcgacatctacctcga	8	20	1	0	rs147763834	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:132529374C>T	uc001ujn.3	+	36	6812	c.6660C>T	c.(6658-6660)gaC>gaT	p.D2220D	EP400_uc021rgq.1_Silent_p.D2219D|EP400_uc001ujm.3_Silent_p.D2139D	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2256					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CGCCGCAGGACGACAGCGACA	0.592													T	132529374	C	T	132529374	2	4	4	1	0	0	0	0	0	0	0	1	5149	535	19	1		1	EP400	12	132529374	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	14781	132529374	1322521	3061	5126											
POLE	5426	broad.mit.edu	37	chr12	133256788	133256788	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcgcaatgtagaaataCggtttatagggcaaagccac	11	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:133256788C>T	uc001uks.1	-	3	350	c.306G>A	c.(304-306)ccG>ccA	p.P102P	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.P75P	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	102					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGTAGAAATACGGTTTATAGG	0.468								DNA polymerases (catalytic subunits)					T	133256788	C	T	133256788	2	4	4	1	0	0	0	0	0	0	0	1	12196	523	19	1		1	POLE	12	133256788	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	727414	133256788	595107	3062	5127											
ANKLE2	23141	broad.mit.edu	37	chr12	133303972	133303972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggactgtagctgtgaggGccactgagatctggcagctg	15	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:133303972G>A	uc001ukx.2	-	12	2740	c.2673C>T	c.(2671-2673)ggC>ggT	p.G891G	ANKLE2_uc009zyw.1_Silent_p.G246G	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 2 (ANKLE2), mRNA.	891						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AGCTGTGAGGGCCACTGAGAT	0.627													A	133303972	G	A	133303972	2	1	4	1	0	0	0	0	0	0	0	1	633	1190	42	2		2	ANKLE2	12	133303972	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	47184	133303972	547923	3063	5128											
GOLGA3	2802	broad.mit.edu	37	chr12	133381403	133381403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagtcgttgttggacgacGccaggctggcattttttgcc	13	10	0	0	rs138594544	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:133381403G>A	uc001ukz.1	-	6	2055	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.A499V|GOLGA3_uc001ulb.3_Missense_Mutation_p.A499V	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	499					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTTGGACGACGCCAGGCTGGC	0.582													A	133381403	G	A	133381403	3	1	4	1	0	0	0	0	1	0	0	0	6554	1087	38	1	3210	1	GOLGA3	12	133381403	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	77431	133381403	470492	3064	5129											
GOLGA3	2802	broad.mit.edu	37	chr12	133385136	133385136	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggttgcaggttgactggaCtgagaagaaaacaaaagtac	12	5	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:133385136C>T	uc001ukz.1	-	5	1079	c.520_splice	c.e5-1	p.S174_splice	GOLGA3_uc021rgt.1_Splice_Site|GOLGA3_uc001ula.1_Splice_Site_p.S174_splice|GOLGA3_uc001ulb.3_Splice_Site_p.S174_splice	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	174	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTTGACTGGACTGAGAAGAAA	0.433													T	133385136	C	T	133385136	5	4	4	1	0	0	0	0	0	0	1	0	6554	579	20	4	4195	4	GOLGA3	12	133385136	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3733	133385136	466759	3065	5130											
ZNF140	7699	broad.mit.edu	37	chr12	133683228	133683228	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taccactcattccttactgaAcaccagtgaatttacactgc	4	13	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:133683228A>C	uc001ulo.3	+	4	2035	c.1365A>C	c.(1363-1365)gaA>gaC	p.E455D	ZNF140_uc001ulp.3_Missense_Mutation_p.E352D|ZNF140_uc010tbu.2_Missense_Mutation_p.E352D	NM_003440	NP_003431	P52738	ZN140_HUMAN	Homo sapiens zinc finger protein 140 (ZNF140), mRNA.	455						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TCCTTACTGAACACCAGTGAA	0.353													C	133683228	A	C	133683228	3	2	4	1	0	0	0	0	1	0	0	0	17726	40	2	5	1379	5	ZNF140	12	133683228	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	298092	133683228	168667	3066	5131											
TPTE2	93492	broad.mit.edu	37	chr13	20056655	20056655	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcaacattttcagcatctTcaacttcaaacttggaaagt	5	9	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:20056655T>C	uc001umd.3	-	4	363	c.152A>G	c.(151-153)gAa>gGa	p.E51G	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Missense_Mutation_p.E51G|TPTE2_uc001ume.3_Intron|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	51						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TTCAGCATCTTCAACTTCAAA	0.348													C	20056655	T	C	20056655	3	2	4	1	0	0	0	0	1	0	0	0	16428	1783	62	3	1484	3	TPTE2	13	20056655	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08		20056655	95113223	3067	5132											
TPTE2	93492	broad.mit.edu	37	chr13	20056687	20056687	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaagtcgttctaacatActttagccaccaaaaaaaaa	5	8	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:20056687A>T	uc001umd.3	-	5	331	c.120_splice	c.e5-1	p.S40_splice	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Splice_Site_p.S40_splice|TPTE2_uc001ume.3_Intron|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Splice_Site	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	40						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GTTCTAACATACTTTAGCCAC	0.313													T	20056687	A	T	20056687	5	4	4	1	0	0	0	0	0	0	1	0	16428	405	14	5	1516	5	TPTE2	13	20056687	Splice_Site	SNP	A	TCGA-BR-4184-01A-01D-1126-08	32	20056687	95113191	3068	5133											
PSPC1	55269	broad.mit.edu	37	chr13	20279899	20279899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgggccaggtatagttGctctgttgttcatattcata	11	6	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:20279899G>A	uc021rgx.1	-	8	1426	c.1289C>T	c.(1288-1290)gCa>gTa	p.A430V		NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA.	430	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		AGGTATAGTTGCTCTGTTGTT	0.488													A	20279899	G	A	20279899	3	1	4	1	0	0	0	0	1	0	0	0	12716	1319	46	2	290	2	PSPC1	13	20279899	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	223212	20279899	94889979	3069	5134											
ZMYM2	7750	broad.mit.edu	37	chr13	20641083	20641083	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttcaaatatacgtatggCgtaaatgcatggaaacactg	8	8	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:20641083C>T	uc001umr.3	+	20	3523	c.3225C>T	c.(3223-3225)ggC>ggT	p.G1075G	ZMYM2_uc001ums.3_Silent_p.G1075G|ZMYM2_uc021rgy.1_Silent_p.G1075G|ZMYM2_uc001umt.3_Silent_p.G1075G|ZMYM2_uc001umv.3_Silent_p.G455G|ZMYM2_uc001umw.3_Silent_p.G528G	NM_003453	NP_932072	Q9UBW7	ZMYM2_HUMAN	Homo sapiens zinc finger, MYM-type 2 (ZMYM2), transcript variant 1, mRNA.	1075					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	p.G1075G(1)|p.G1073G(1)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		ATACGTATGGCGTAAATGCAT	0.368													T	20641083	C	T	20641083	2	4	4	1	0	0	0	0	0	0	0	1	17697	755	27	1		1	ZMYM2	13	20641083	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	361184	20641083	94528795	3070	5135											
IFT88	8100	broad.mit.edu	37	chr13	21189979	21189979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatctgcaaaactcattgCtcctgtaattgaaacatctt	5	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:21189979C>T	uc001unh.3	+	15	1583	c.1187C>T	c.(1186-1188)gCt>gTt	p.A396V	IFT88_uc001uni.3_Missense_Mutation_p.A387V|IFT88_uc001unj.3_Missense_Mutation_p.A386V|IFT88_uc010tcq.2_Missense_Mutation_p.A367V|IFT88_uc001unk.3_Missense_Mutation_p.A142V|IFT88_uc001unl.1_Missense_Mutation_p.A14V	NM_175605	NP_006522	Q13099	IFT88_HUMAN	Homo sapiens intraflagellar transport 88 homolog (Chlamydomonas) (IFT88), transcript variant 1, mRNA.	396					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AAACTCATTGCTCCTGTAATT	0.284													T	21189979	C	T	21189979	3	4	4	1	0	0	0	0	1	0	0	0	7566	797	28	2	1241	2	IFT88	13	21189979	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	548896	21189979	93979899	3071	5136											
LATS2	26524	broad.mit.edu	37	chr13	21555688	21555688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctctggtgctgcttccgcGccctctgctctagggtcttc	10	16	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:21555688G>A	uc009zzs.3	-	5	2947	c.2582C>T	c.(2581-2583)gCg>gTg	p.A861V	LATS2_uc001unr.4_Missense_Mutation_p.A861V	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	861	Protein kinase.				G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTGCTTCCGCGCCCTCTGCTC	0.612													A	21555688	G	A	21555688	3	1	4	1	0	0	0	0	1	0	0	0	8647	1087	38	1	696	1	LATS2	13	21555688	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	365709	21555688	93614190	3072	5137											
FGF9	2254	broad.mit.edu	37	chr13	22246290	22246290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttagaaatcttccccaatgGtactatccagggaaccagga	8	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:22246290G>A	uc001uog.2	+	0	1076	c.239G>A	c.(238-240)gGt>gAt	p.G80D		NM_002010	NP_002001	P31371	FGF9_HUMAN	Homo sapiens fibroblast growth factor 9 (glia-activating factor) (FGF9), mRNA.	80					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		TTCCCCAATGGTACTATCCAG	0.463													A	22246290	G	A	22246290	3	1	4	1	0	0	0	0	1	0	0	0	5859	1261	44	4	241	4	FGF9	13	22246290	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	690602	22246290	92923588	3073	5138											
SACS	26278	broad.mit.edu	37	chr13	23906034	23906034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccttgaagagaacacaacGctccaaactgacaaactttg	6	11	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:23906034G>A	uc001uon.2	-	9	12570	c.11981C>T	c.(11980-11982)gCg>gTg	p.A3994V	SACS_uc001uoo.2_Missense_Mutation_p.A3847V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3994					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGAACACAACGCTCCAAACTG	0.353													A	23906034	G	A	23906034	3	1	4	1	0	0	0	0	1	0	0	0	13804	1087	38	1	1762	1	SACS	13	23906034	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1659744	23906034	91263844	3074	5139											
SACS	26278	broad.mit.edu	37	chr13	23908271	23908271	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagattcactaataaaatgCcatgcattcttaagccaaga	5	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:23908271C>T	uc001uon.2	-	9	10333	c.9744G>A	c.(9742-9744)tgG>tgA	p.W3248*	SACS_uc001uoo.2_Nonsense_Mutation_p.W3101*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3248			W -> R (in SACS).		cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAATAAAATGCCATGCATTCT	0.368													T	23908271	C	T	23908271	4	4	4	1	0	0	0	0	0	1	0	0	13804	740	26	2	3999	2	SACS	13	23908271	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2237	23908271	91261607	3075	5140											
SACS	26278	broad.mit.edu	37	chr13	23909914	23909914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catttctgcattacgaagagGaaatctgaacattgtgcaat	8	7	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:23909914G>A	uc001uon.2	-	9	8690	c.8101C>T	c.(8101-8103)Cct>Tct	p.P2701S	SACS_uc001uoo.2_Missense_Mutation_p.P2554S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2701					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTACGAAGAGGAAATCTGAAC	0.403													A	23909914	G	A	23909914	3	1	4	1	0	0	0	0	1	0	0	0	13804	1174	41	4	5642	4	SACS	13	23909914	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1643	23909914	91259964	3076	5141											
SACS	26278	broad.mit.edu	37	chr13	23942607	23942607	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaatcaacaagtggtggCgttgtctgaccaaatcgacc	10	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:23942607C>T	uc001uon.2	-	4	868	c.279G>A	c.(277-279)acG>acA	p.T93T	SACS_uc001uoo.2_5'UTR|SACS_uc001uoq.1_5'UTR	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	93					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAAGTGGTGGCGTTGTCTGAC	0.393													T	23942607	C	T	23942607	2	4	4	1	0	0	0	0	0	0	0	1	13804	755	27	1		1	SACS	13	23942607	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	32693	23942607	91227271	3077	5142											
TNFRSF19	55504	broad.mit.edu	37	chr13	24190110	24190110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagccctgtctggactgCgcagtggtgaaccgctttca	12	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:24190110C>T	uc001uov.2	+	3	489	c.285C>T	c.(283-285)tgC>tgT	p.C95C	TNFRSF19_uc001uot.3_Silent_p.C95C|TNFRSF19_uc010tcu.2_5'UTR|TNFRSF19_uc001uow.3_Silent_p.C95C	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 19 (TNFRSF19), transcript variant 1, mRNA.	95					JNK cascade|apoptosis|induction of apoptosis	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GTCTGGACTGCGCAGTGGTGA	0.572													T	24190110	C	T	24190110	2	4	4	1	0	0	0	0	0	0	0	1	16289	776	27	1		1	TNFRSF19	13	24190110	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	247503	24190110	90979768	3078	5143											
SPATA13	221178	broad.mit.edu	37	chr13	24860366	24860366	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcagctgatcagtgatggCaacgtggtctgcgcagaagc	13	9	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:24860366C>T	uc001upd.2	+	7	2894	c.2316C>T	c.(2314-2316)ggC>ggT	p.G772G	SPATA13_uc001upe.3_Non-coding_Transcript|SPATA13_uc021rhg.1_Silent_p.G772G|SPATA13_uc001upg.2_Silent_p.G147G|SPATA13_uc010tcy.1_Silent_p.G93G|SPATA13_uc010tcz.2_Silent_p.G93G|SPATA13_uc010tdb.2_Silent_p.G69G|SPATA13_uc010tda.2_Silent_p.G91G|SPATA13_uc001uph.3_Silent_p.G69G|SPATA13_uc009zzz.2_5'Flank	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.	147					cell migration|filopodium assembly|lamellipodium assembly|regulation of Rho protein signal transduction|regulation of cell migration	cytoplasm|filopodium|lamellipodium|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein binding			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TCAGTGATGGCAACGTGGTCT	0.592													T	24860366	C	T	24860366	2	4	4	1	0	0	0	0	0	0	0	1	14999	697	25	2		2	SPATA13	13	24860366	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	670256	24860366	90309512	3079	5144											
PARP4	143	broad.mit.edu	37	chr13	25008533	25008533	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggagaaataagacacatacCtctgtctgtagactgaggag	11	7	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:25008533C>A	uc001upl.3	-	31	4852	c.4746_splice	c.e31+1	p.E1582_splice		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1582	Interaction with the major vault protein.				DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGACACATACCTCTGTCTGTA	0.463													A	25008533	C	A	25008533	5	1	4	1	0	0	0	0	0	0	1	0	11463	695	24	5	444	5	PARP4	13	25008533	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	148167	25008533	90161345	3080	5145											
PARP4	143	broad.mit.edu	37	chr13	25075838	25075838	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttataaggatcataattcttTacatccaagagtctcttttc	4	8	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:25075838T>C	uc001upl.3	-	2	373	c.267A>G	c.(265-267)gtA>gtG	p.V89V	PARP4_uc010tdc.2_Silent_p.V89V	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	89	BRCT.				DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CATAATTCTTTACATCCAAGA	0.398													C	25075838	T	C	25075838	2	2	4	1	0	0	0	0	0	0	0	1	11463	1741	61	3		3	PARP4	13	25075838	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	67305	25075838	90094040	3081	5146											
CENPJ	55835	broad.mit.edu	37	chr13	25480954	25480954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttaaacagcggctggtcctCggaagtgctctggttagtca	12	9	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:25480954C>T	uc001upt.4	-	6	1475	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript|CENPJ_uc001upu.3_5'Flank	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	408					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GGCTGGTCCTCGGAAGTGCTC	0.393													T	25480954	C	T	25480954	3	4	4	1	0	0	0	0	1	0	0	0	3234	893	31	1	2838	1	CENPJ	13	25480954	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	405116	25480954	89688924	3082	5147											
PABPC3	5042	broad.mit.edu	37	chr13	25670410	25670410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccccgacgtgactgaggCgatgctctacgagaagttca	11	13	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:25670410C>T	uc001upy.3	+	0	135	c.74C>T	c.(73-75)gCg>gTg	p.A25V		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	25	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GTGACTGAGGCGATGCTCTAC	0.642													T	25670410	C	T	25670410	3	4	4	1	0	0	0	0	1	0	0	0	11365	768	27	1	76	1	PABPC3	13	25670410	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	189456	25670410	89499468	3083	5148											
PABPC3	5042	broad.mit.edu	37	chr13	25671495	25671495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagtatatgcagagaatgGcaagtgtacgagctgtgccc	13	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:25671495G>A	uc001upy.3	+	0	1220	c.1159G>A	c.(1159-1161)Gca>Aca	p.A387T		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	387					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GCAGAGAATGGCAAGTGTACG	0.502													A	25671495	G	A	25671495	3	1	4	1	0	0	0	0	1	0	0	0	11365	1203	42	2	1161	2	PABPC3	13	25671495	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1085	25671495	89498383	3084	5149											
ATP8A2	51761	broad.mit.edu	37	chr13	26144987	26144987	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaggatggagataacaTcatctaccaggcctcttccc	9	11	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:26144987T>A	uc001uqk.3	+	16	1698	c.1556T>A	c.(1555-1557)aTc>aAc	p.I519N	ATP8A2_uc010tdi.2_Missense_Mutation_p.I479N|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.I29N|ATP8A2_uc001uql.1_Missense_Mutation_p.I479N	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	479					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GGAGATAACATCATCTACCAG	0.592													A	26144987	T	A	26144987	3	1	4	1	0	0	0	0	1	0	0	0	1193	1435	50	5	1622	5	ATP8A2	13	26144987	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	473492	26144987	89024891	3085	5150											
RNF6	6049	broad.mit.edu	37	chr13	26792703	26792703	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctagttgttccttgacGccatctaaccgctgttgcag	10	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:26792703G>A	uc001uqo.3	-	3	579	c.234C>T	c.(232-234)ggC>ggT	p.G78G	RNF6_uc001uqn.1_Silent_p.G78G|RNF6_uc001uqp.3_Silent_p.G78G|RNF6_uc001uqq.3_Silent_p.G78G|RNF6_uc010tdk.2_5'UTR	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA.	78					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	PML body|axon|cytoplasm	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		GTTCCTTGACGCCATCTAACC	0.403													A	26792703	G	A	26792703	2	1	4	1	0	0	0	0	0	0	0	1	13498	1074	38	1		1	RNF6	13	26792703	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	647716	26792703	88377175	3086	5151											
GPR12	2835	broad.mit.edu	37	chr13	27333601	27333601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagaggcagagaaagaggCgacaatgaggccgatcgtga	16	7	0	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:27333601C>T	uc021rhk.1	-	0	364	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	GPR12_uc010aal.3_Missense_Mutation_p.A122T|GPR12_uc010tdl.2_Intron	NM_005288	NP_005279	P47775	GPR12_HUMAN	Homo sapiens G protein-coupled receptor 12 (GPR12), mRNA.	122						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GAGAAAGAGGCGACAATGAGG	0.542													T	27333601	C	T	27333601	3	4	4	1	0	0	0	0	1	0	0	0	6635	768	27	1	644	1	GPR12	13	27333601	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	540898	27333601	87836277	3087	5152											
FLT3	2322	broad.mit.edu	37	chr13	28592704	28592704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgacaagcacgttcctgGcggccaggtctctgtgaaca	14	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:28592704G>A	uc001urw.3	-	19	2523	c.2441C>T	c.(2440-2442)gCc>gTc	p.A814V	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Intron	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	814	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CACGTTCCTGGCGGCCAGGTC	0.453			"Mis, O"		"AML, ALL"								A	28592704	G	A	28592704	3	1	4	1	0	0	0	0	1	0	0	0	5942	1203	42	2	560	2	FLT3	13	28592704	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1259103	28592704	86577174	3088	5153											
FLT1	2321	broad.mit.edu	37	chr13	29002038	29002038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgagcagatttctcagtcGcaggtaacccatcttttaac	8	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:29002038G>A	uc001usb.3	-	8	1412	c.1127C>T	c.(1126-1128)gCg>gTg	p.A376V	FLT1_uc010aar.1_Missense_Mutation_p.A376V|FLT1_uc001usc.3_Missense_Mutation_p.A376V|FLT1_uc010tdp.1_Missense_Mutation_p.A376V	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	376	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTTCTCAGTCGCAGGTAACCC	0.398													A	29002038	G	A	29002038	3	1	4	1	0	0	0	0	1	0	0	0	5941	1087	38	1	3240	1	FLT1	13	29002038	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	409334	29002038	86167840	3089	5154											
RXFP2	122042	broad.mit.edu	37	chr13	32355867	32355867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacgtttctgtcgtgcgattCgctcacagtgctgtaagtat	10	9	2	0	rs144275111		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:32355867C>T	uc001utt.3	+	9	916	c.845C>T	c.(844-846)tCg>tTg	p.S282L	RXFP2_uc010aba.3_Missense_Mutation_p.S282L	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	282						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TCGTGCGATTCGCTCACAGTG	0.323													T	32355867	C	T	32355867	3	4	4	1	0	0	0	0	1	0	0	0	13760	893	31	1	883	1	RXFP2	13	32355867	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3353829	32355867	82814011	3090	5155											
FRY	10129	broad.mit.edu	37	chr13	32747622	32747622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtttccaggtggccacacGcaaactgtccgttttaatac	8	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:32747622G>A	uc001utx.3	+	18	2766	c.2270G>A	c.(2269-2271)cGc>cAc	p.R757H	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	757					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GTGGCCACACGCAAACTGTCC	0.468													A	32747622	G	A	32747622	3	1	4	1	0	0	0	0	1	0	0	0	6063	1087	38	1	2344	1	FRY	13	32747622	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	391755	32747622	82422256	3091	5156											
FRY	10129	broad.mit.edu	37	chr13	32821627	32821627	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaaccctggacttccacttCgatatttcggaggtacttag	8	10	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:32821627C>T	uc001utx.3	+	47	7492	c.6996C>T	c.(6994-6996)ttC>ttT	p.F2332F	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACTTCCACTTCGATATTTCGG	0.393													T	32821627	C	T	32821627	2	4	4	1	0	0	0	0	0	0	0	1	6063	883	31	1		1	FRY	13	32821627	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	74005	32821627	82348251	3092	5157											
BRCA2	675	broad.mit.edu	37	chr13	32906931	32906931	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaaagaaagaaagattTtcttacttcagagaattctt	6	5	3	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:32906931T>G	uc001uub.1	+	9	1543	c.1316T>G	c.(1315-1317)tTt>tGt	p.F439C	BRCA2_uc001uua.1_Missense_Mutation_p.F316C	NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	439					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGAAAGATTTTCTTACTTCA	0.358			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			G	32906931	T	G	32906931	3	3	4	1	0	0	0	0	1	0	0	0	1499	1841	64	5	1350	5	BRCA2	13	32906931	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	85304	32906931	82262947	3093	5158											
BRCA2	675	broad.mit.edu	37	chr13	32911443	32911443	+	Frame_Shift_Del	DEL	A	A	-													gaatatagataaaataccagAaaaaaataatgattacatga							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:32911442_32911442GA>G	uc001uub.1	+	10	3177	c.2950_2950GA>G	c.(2950-2952)gaafs	p.E984fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	984	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAAAATACCAGAAAAAAATAA	0.333			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			-	32911443	A	-	32911443	7	5	4	1	0	1	0	1	0	0	0	0	1499	246	9	0	2989	0	BRCA2	13	32911443	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	4512	32911443	82258435	3094	5159											
BRCA2	675	broad.mit.edu	37	chr13	32912807	32912807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggaaaaatattagtgtcGccaaagagtcatttaataaa	9	4	1	1	rs80358666		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:32912807G>A	uc001uub.1	+	10	4542	c.4315G>A	c.(4315-4317)Gcc>Acc	p.A1439T		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1439					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TATTAGTGTCGCCAAAGAGTC	0.289			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			A	32912807	G	A	32912807	3	1	4	1	0	0	0	0	1	0	0	0	1499	1087	38	1	4353	1	BRCA2	13	32912807	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1364	32912807	82257071	3095	5160											
BRCA2	675	broad.mit.edu	37	chr13	32930634	32930634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagaagaaacaaaggcaacGcgtctttccacagccaggca	9	11	1	2	rs56070345		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:32930634G>A	uc001uub.1	+	14	7732	c.7505G>A	c.(7504-7506)cGc>cAc	p.R2502H		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2502	Interaction with FANCD2.		R -> C (in BC; unknown pathological significance).|R -> H (in ovarian cancer; could be a polymorphism).		cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAAAGGCAACGCGTCTTTCCA	0.408			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			A	32930634	G	A	32930634	3	1	4	1	0	0	0	0	1	0	0	0	1499	1087	38	1	7559	1	BRCA2	13	32930634	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	17827	32930634	82239244	3096	5161											
BRCA2	675	broad.mit.edu	37	chr13	32944628	32944628	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcctctgcccttatcatcGcttttcagtgatggaggaaa	8	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:32944628G>A	uc001uub.1	+	18	8648	c.8421G>A	c.(8419-8421)tcG>tcA	p.S2807S		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2807					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CCTTATCATCGCTTTTCAGTG	0.398			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			A	32944628	G	A	32944628	2	1	4	1	0	0	0	0	0	0	0	1	1499	1074	38	1		1	BRCA2	13	32944628	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	13994	32944628	82225250	3097	5162											
BRCA2	675	broad.mit.edu	37	chr13	32953551	32953551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagttggaaattaggaaggCcatggaatctgctgaacaaa	11	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:32953551C>T	uc001uub.1	+	21	9079	c.8852C>T	c.(8851-8853)gCc>gTc	p.A2951V		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2951			A -> T.		cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATTAGGAAGGCCATGGAATCT	0.383			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			T	32953551	C	T	32953551	3	4	4	1	0	0	0	0	1	0	0	0	1499	739	26	2	8934	2	BRCA2	13	32953551	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	8923	32953551	82216327	3098	5163											
PDS5B	23047	broad.mit.edu	37	chr13	33344393	33344393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgaagtcggaaaagaggCcatacggcttcagaatctga	12	9	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:33344393C>T	uc010abf.3	+	31	3945	c.3759C>T	c.(3757-3759)ggC>ggT	p.G1253G	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	1253					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GGAAAAGAGGCCATACGGCTT	0.443													T	33344393	C	T	33344393	2	4	4	1	0	0	0	0	0	0	0	1	11692	726	26	2		2	PDS5B	13	33344393	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	390842	33344393	81825485	3099	5164											
STARD13	90627	broad.mit.edu	37	chr13	33686932	33686932	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacactgccaggttcatgggCgtcatctgattctcttccac	8	14	4	1	rs145394840		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:33686932C>T	uc001uuw.3	-	8	2544	c.2418G>A	c.(2416-2418)acG>acA	p.T806T	STARD13_uc001uuu.3_Silent_p.T798T|STARD13_uc001uuv.3_Silent_p.T688T|STARD13_uc001uux.3_Silent_p.T771T	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	806	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	p.T806M(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGTTCATGGGCGTCATCTGAT	0.498													T	33686932	C	T	33686932	2	4	4	1	0	0	0	0	0	0	0	1	15255	755	27	1		1	STARD13	13	33686932	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	342539	33686932	81482946	3100	5165											
SPG20	23111	broad.mit.edu	37	chr13	36878523	36878523	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttatctttcttctttgcCtcctttacttccttcgtctg	3	13	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:36878523C>T	uc001uvn.3	-	9	2250	c.1980G>A	c.(1978-1980)gaG>gaA	p.E660E	SPG20_uc010ten.2_Silent_p.E650E|SPG20_uc001uvm.3_Silent_p.E660E|SPG20_uc001uvo.3_Silent_p.E660E|SPG20_uc001uvq.3_Silent_p.E660E	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	660					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TCTTCTTTGCCTCCTTTACTT	0.388													T	36878523	C	T	36878523	2	4	4	1	0	0	0	0	0	0	0	1	15041	680	24	4		4	SPG20	13	36878523	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3191591	36878523	78291355	3101	5166											
SPG20	23111	broad.mit.edu	37	chr13	36909272	36909273	+	Frame_Shift_Ins	INS	-	-	A													cctcccctgcaggatttacaINSaaaaaaatctgtactccatt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:36909271_36909272C>CA	uc001uvn.3	-	2	966_967	c.696_697G>TG	c.(694-699)tttgtafs	p.F232fs	SPG20_uc010ten.2_Frame_Shift_Ins_p.F232fs|SPG20_uc001uvm.3_Frame_Shift_Ins_p.F232fs|SPG20_uc001uvo.3_Frame_Shift_Ins_p.F232fs|SPG20_uc001uvq.3_Frame_Shift_Ins_p.F232fs|SPG20_uc001uvp.2_Frame_Shift_Ins_p.F232fs	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	232					cell death	cytoplasm	ubiquitin protein ligase binding	p.F231C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		GCAGGATTTACAAAAAAAATCT	0.436													A	36909273	-	A	36909272	7	5	4	1	0	1	1	0	0	0	0	0	15041	127	5	0	1336	0	SPG20	13	36909272	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	30749	36909272	78260606	3102	5167											
CCNA1	8900	broad.mit.edu	37	chr13	37014191	37014191	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatacatacacaaaacgacaActgttaaaaatggaacactt	5	8	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:37014191A>G	uc001uvr.4	+	5	1319	c.969A>G	c.(967-969)caA>caG	p.Q323Q	CCNA1_uc010teo.2_Silent_p.Q279Q|CCNA1_uc010abq.3_Silent_p.Q279Q|CCNA1_uc010abp.3_Silent_p.Q279Q|CCNA1_uc001uvs.4_Silent_p.Q322Q|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	323					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CAAAACGACAACTGTTAAAAA	0.403													G	37014191	A	G	37014191	2	3	4	1	0	0	0	0	0	0	0	1	2909	40	2	3		3	CCNA1	13	37014191	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	104919	37014191	78155687	3103	5168											
FREM2	341640	broad.mit.edu	37	chr13	39262274	39262274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttccaggaactaggcgtgCgctatcgccacacagccgcc	10	16	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:39262274C>T	uc001uwv.3	+	0	1102	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	265					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACTAGGCGTGCGCTATCGCCA	0.627													T	39262274	C	T	39262274	3	4	4	1	0	0	0	0	1	0	0	0	6045	768	27	1	795	1	FREM2	13	39262274	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2248083	39262274	75907604	3104	5169											
LHFP	10186	broad.mit.edu	37	chr13	40175124	40175124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctccattctgcgctggggAtgccctggaaggaggcatag	14	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:40175124A>G	uc001uxf.3	-	1	741	c.230T>C	c.(229-231)aTc>aCc	p.I77T		NM_005780	NP_005771	Q9Y693	LHFP_HUMAN	Homo sapiens lipoma HMGIC fusion partner (LHFP), mRNA.	77						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		TGCGCTGGGGATGCCCTGGAA	0.592			T	HMGA2	lipoma								G	40175124	A	G	40175124	3	3	4	1	0	0	0	0	1	0	0	0	8763	333	12	3	384	3	LHFP	13	40175124	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	912850	40175124	74994754	3105	5170											
FOXO1	2308	broad.mit.edu	37	chr13	41134254	41134254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactccttcaagagtccaggCgcacagttatactgactcat	7	12	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:41134254C>T	uc001uxl.4	-	1	1759	c.1374G>A	c.(1372-1374)gcG>gcA	p.A458A	FOXO1_uc010acc.1_Silent_p.A273A	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	Homo sapiens forkhead box O1 (FOXO1), mRNA.	458					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	p.A458V(1)	PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		AGAGTCCAGGCGCACAGTTAT	0.502													T	41134254	C	T	41134254	2	4	4	1	0	0	0	0	0	0	0	1	6023	755	27	1		1	FOXO1	13	41134254	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	959130	41134254	74035624	3106	5171											
KBTBD6	89890	broad.mit.edu	37	chr13	41705170	41705170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggatcataacagaacatgCgcttactgttgagagcatag	10	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:41705170C>T	uc001uxu.1	-	0	1767	c.1478G>A	c.(1477-1479)cGc>cAc	p.R493H	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	493							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ACAGAACATGCGCTTACTGTT	0.448													T	41705170	C	T	41705170	3	4	4	1	0	0	0	0	1	0	0	0	7997	768	27	1	550	1	KBTBD6	13	41705170	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	570916	41705170	73464708	3107	5172											
KBTBD6	89890	broad.mit.edu	37	chr13	41705357	41705357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatatagccattgagatatgCcacatccatgccctcacgac	7	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:41705357C>T	uc001uxu.1	-	0	1580	c.1291G>A	c.(1291-1293)Gca>Aca	p.A431T	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	431							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TTGAGATATGCCACATCCATG	0.483													T	41705357	C	T	41705357	3	4	4	1	0	0	0	0	1	0	0	0	7997	739	26	2	737	2	KBTBD6	13	41705357	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	187	41705357	73464521	3108	5173											
MTRF1	9617	broad.mit.edu	37	chr13	41834827	41834827	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catatatttctgtagtgcttTatgcttccagagcatcttgg	8	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:41834827T>C	uc010tff.2	-	2	475	c.256A>G	c.(256-258)Aaa>Gaa	p.K86E	MTRF1_uc001uxx.3_Missense_Mutation_p.K73E|MTRF1_uc001uxy.3_Missense_Mutation_p.K73E|MTRF1_uc001uxz.3_5'UTR|MTRF1_uc001uyc.1_Missense_Mutation_p.K73E			O75570	RF1M_HUMAN	Homo sapiens mitochondrial translational release factor 1 (MTRF1), nuclear gene encoding mitochondrial protein, mRNA.	73					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TGTAGTGCTTTATGCTTCCAG	0.408													C	41834827	T	C	41834827	3	2	4	1	0	0	0	0	1	0	0	0	9959	1763	61	3	1156	3	MTRF1	13	41834827	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	129470	41834827	73335051	3109	5174											
KIAA0564	23078	broad.mit.edu	37	chr13	42465597	42465597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcagacatcaggaagcGtccatcttcaagctgcatct	8	13	5	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:42465597G>A	uc001uyj.3	-	4	680	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	KIAA0564_uc001uyk.3_Missense_Mutation_p.R204C	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	204						extracellular region	ATP binding|ATPase activity	p.R204C(2)		endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		ATCAGGAAGCGTCCATCTTCA	0.438													A	42465597	G	A	42465597	3	1	4	1	0	0	0	0	1	0	0	0	8185	1145	40	1	5275	1	KIAA0564	13	42465597	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	630770	42465597	72704281	3110	5175											
DGKH	160851	broad.mit.edu	37	chr13	42729890	42729891	+	Frame_Shift_Del	DEL	AG	AG	-													ccaccttctgtaacgtgtgcAgagagagtctttctggagtc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:42729889_42729890CAG>C	uc001uyl.2	+	4	643_644	c.576_577CAG>C	c.(574-579)tgcagafs	p.C192fs	DGKH_uc010tfh.2_Frame_Shift_Del_p.C192fs|DGKH_uc001uym.2_Frame_Shift_Del_p.C192fs|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Frame_Shift_Del_p.A25fs|DGKH_uc001uyo.2_Frame_Shift_Del_p.C56fs|DGKH_uc010tfj.2_Frame_Shift_Del_p.C56fs|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	192					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.V191M(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GTAACGTGTGCAGAGAGAGTCT	0.515													-	42729891	AG	-	42729890	7	5	4	1	0	1	0	1	0	0	0	0	4470	180	7	0	595	0	DGKH	13	42729890	Frame_Shift_Del	DEL	AG	TCGA-BR-4184-01A-01D-1126-08	264293	42729890	72439988	3111	5176											
DGKH	160851	broad.mit.edu	37	chr13	42793448	42793448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaaactgacagagattcCttggctttattatatcttac	6	8	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:42793448C>T	uc001uyl.2	+	26	3363	c.3296C>T	c.(3295-3297)cCt>cTt	p.P1099L	DGKH_uc010tfh.2_Missense_Mutation_p.P1099L|DGKH_uc001uym.2_Missense_Mutation_p.P1099L|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Missense_Mutation_p.P854L|DGKH_uc001uyo.2_Missense_Mutation_p.P963L|DGKH_uc010tfj.2_Missense_Mutation_p.P963L|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	1099					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		ACAGAGATTCCTTGGCTTTAT	0.393													T	42793448	C	T	42793448	3	4	4	1	0	0	0	0	1	0	0	0	4470	681	24	4	3402	4	DGKH	13	42793448	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	63558	42793448	72376430	3112	5177											
AKAP11	11215	broad.mit.edu	37	chr13	42875031	42875031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacctttacaacaaaggcaGcagttagtgtctctacggat	9	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:42875031G>A	uc001uys.2	+	7	2324	c.2149G>A	c.(2149-2151)Gca>Aca	p.A717T		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	717					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AACAAAGGCAGCAGTTAGTGT	0.403													A	42875031	G	A	42875031	3	1	4	1	0	0	0	0	1	0	0	0	447	971	34	2	2171	2	AKAP11	13	42875031	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	81583	42875031	72294847	3113	5178											
AKAP11	11215	broad.mit.edu	37	chr13	42876608	42876608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagtcaaagaagtgtgtcGcctacttttttaaacccctc	6	11	1	1	rs149090364	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:42876608G>A	uc001uys.2	+	7	3901	c.3726G>A	c.(3724-3726)tcG>tcA	p.S1242S		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	1242					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GAAGTGTGTCGCCTACTTTTT	0.373													A	42876608	G	A	42876608	2	1	4	1	0	0	0	0	0	0	0	1	447	1074	38	1		1	AKAP11	13	42876608	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1577	42876608	72293270	3114	5179											
SLC25A30	253512	broad.mit.edu	37	chr13	45983111	45983111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcctatcctcactaatgCgtgcaacattcctcggtatc	6	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:45983111C>T	uc001vag.3	-	2	300	c.163G>A	c.(163-165)Gca>Aca	p.A55T	SLC25A30_uc010tfs.2_Intron|SLC25A30_uc010tft.2_Missense_Mutation_p.A4T|SLC25A30_uc001vah.3_Intron	NM_001010875	NP_001010875	Q5SVS4	KMCP1_HUMAN	Homo sapiens solute carrier family 25, member 30 (SLC25A30), nuclear gene encoding mitochondrial protein, mRNA.	55					mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		CTCACTAATGCGTGCAACATT	0.448													T	45983111	C	T	45983111	3	4	4	1	0	0	0	0	1	0	0	0	14494	768	27	1	744	1	SLC25A30	13	45983111	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3106503	45983111	69186767	3115	5180											
CPB2	1361	broad.mit.edu	37	chr13	46658431	46658431	+	Frame_Shift_Del	DEL	T	T	-													tttacaaaaaaatggacttgTtttttcttcacaataaggtc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:46658430_46658430GT>G	uc001vaw.3	-	2	266	c.199_199AC>C	c.(199-201)caafs	p.Q67fs	AK124928_uc001vau.1_Intron|AK124928_uc001vav.1_Intron|CPB2_uc001vax.3_Frame_Shift_Del_p.Q67fs	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	Homo sapiens carboxypeptidase B2 (plasma) (CPB2), transcript variant 1, mRNA.	67					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		AAATGGACTTGTTTTTTCTTC	0.378													-	46658431	T	-	46658431	7	5	4	1	0	1	0	1	0	0	0	0	3797	1722	60	0	1109	0	CPB2	13	46658431	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	675320	46658431	68511447	3116	5181											
LCP1	3936	broad.mit.edu	37	chr13	46716466	46716466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggccagtgtgagagtgCggtttccttcattgagatct	12	8	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:46716466C>T	uc001vaz.4	-	12	1589	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	LCP1_uc010ack.3_Missense_Mutation_p.R57H|LCP1_uc001vay.4_Missense_Mutation_p.R85H|LCP1_uc001vba.4_Missense_Mutation_p.R488H	NM_002298	NP_002289	P13796	PLSL_HUMAN	Homo sapiens lymphocyte cytosolic protein 1 (L-plastin) (LCP1), mRNA.	488	Actin-binding 2.|CH 3.				T cell activation involved in immune response|regulation of intracellular protein transport	cell junction|cytosol|ruffle membrane	calcium ion binding	p.R488C(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGTGAGAGTGCGGTTTCCTTC	0.413			T	BCL6	NHL								T	46716466	C	T	46716466	3	4	4	1	0	0	0	0	1	0	0	0	8691	768	27	1	436	1	LCP1	13	46716466	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	58035	46716466	68453412	3117	5182											
FNDC3A	22862	broad.mit.edu	37	chr13	49688825	49688825	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgatgtccccaaatggTtctgtgcctcctatctatgt	7	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:49688825T>C	uc001vcm.3	+	3	515	c.210T>C	c.(208-210)ggT>ggC	p.G70G	FNDC3A_uc001vcl.1_Silent_p.G70G|FNDC3A_uc001vcn.3_Silent_p.G70G|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcp.1_Silent_p.G14G|FNDC3A_uc001vcq.3_Silent_p.G14G	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	70	Pro-rich.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CCCCAAATGGTTCTGTGCCTC	0.373													C	49688825	T	C	49688825	2	2	4	1	0	0	0	0	0	0	0	1	5969	1712	60	3		3	FNDC3A	13	49688825	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	2972359	49688825	65481053	3118	5183											
SETDB2	83852	broad.mit.edu	37	chr13	50065970	50065970	+	Frame_Shift_Del	DEL	A	A	-													tgtggggttaataaatgtagAaaaaaaatattataaatatg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:50065969_50065969GA>G	uc001vcz.3	+	14	3050	c.2144_2144GA>G	c.(2143-2145)agafs	p.R715fs	SETDB2_uc001vda.3_Frame_Shift_Del_p.R703fs	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	Homo sapiens SET domain, bifurcated 2 (SETDB2), transcript variant 1, mRNA.	715					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		AATAAATGTAGAAAAAAAATA	0.373													-	50065970	A	-	50065970	7	5	4	1	0	1	0	1	0	0	0	0	14139	243	9	0	2199	0	SETDB2	13	50065970	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	377145	50065970	65103908	3119	5184											
ARL11	115761	broad.mit.edu	37	chr13	50204926	50204926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaccccaacatggctggcGtccccttcttggtgctggcc	11	16	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:50204926G>A	uc001vdf.2	+	1	678	c.343G>A	c.(343-345)Gtc>Atc	p.V115I	ARL11_uc021rjo.1_Missense_Mutation_p.V115I	NM_138450	NP_612459	Q969Q4	ARL11_HUMAN	Homo sapiens ADP-ribosylation factor-like 11 (ARL11), mRNA.	115					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		CATGGCTGGCGTCCCCTTCTT	0.567													A	50204926	G	A	50204926	3	1	4	1	0	0	0	0	1	0	0	0	927	1145	40	1	345	1	ARL11	13	50204926	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	138956	50204926	64964952	3120	5185											
KPNA3	3839	broad.mit.edu	37	chr13	50279819	50279819	+	Frame_Shift_Del	DEL	T	T	-													caccggccattatcagaatgTtttttagaccatctagaacc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:50279818_50279818GT>G	uc001vdj.2	-	14	1726	c.1311_1311AC>C	c.(1309-1311)aacfs	p.N437fs		NM_002267	NP_002258	O00505	IMA3_HUMAN	Homo sapiens karyopherin alpha 3 (importin alpha 4) (KPNA3), mRNA.	437					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		TTATCAGAATGTTTTTTAGAC	0.398													-	50279819	T	-	50279819	7	5	4	1	0	1	0	1	0	0	0	0	8431	1725	60	0	267	0	KPNA3	13	50279819	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	74893	50279819	64890059	3121	5186											
FAM124A	220108	broad.mit.edu	37	chr13	51855296	51855296	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctccccacagctcccatgCgatacccccaaagtcaagca	5	19	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:51855296C>T	uc001vff.2	+	4	1821	c.1653C>T	c.(1651-1653)tgC>tgT	p.C551C	FAM124A_uc001vfg.2_Silent_p.C515C	NM_145019	NP_659456	Q86V42	F124A_HUMAN	Homo sapiens family with sequence similarity 124A (FAM124A), transcript variant 1, mRNA.	515								p.C551C(4)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		AGCTCCCATGCGATACCCCCA	0.597													T	51855296	C	T	51855296	2	4	4	1	0	0	0	0	0	0	0	1	5425	776	27	1		1	FAM124A	13	51855296	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1575477	51855296	63314582	3122	5187											
INTS6	26512	broad.mit.edu	37	chr13	51953678	51953678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgctattaggttaggtgCtcccatcatcctaacagctt	8	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:51953678C>T	uc001vfk.3	-	10	1920	c.1306G>A	c.(1306-1308)Gca>Aca	p.A436T	INTS6_uc001vfi.3_Missense_Mutation_p.A120T|INTS6_uc001vfj.3_Missense_Mutation_p.A423T|INTS6_uc001vfl.3_Missense_Mutation_p.A258T	NM_012141	NP_001035026	Q9UL03	INT6_HUMAN	Homo sapiens integrator complex subunit 6 (INTS6), transcript variant 1, mRNA.	436					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		AGGTTAGGTGCTCCCATCATC	0.338													T	51953678	C	T	51953678	3	4	4	1	0	0	0	0	1	0	0	0	7782	797	28	2	1389	2	INTS6	13	51953678	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	98382	51953678	63216200	3123	5188											
CCDC70	83446	broad.mit.edu	37	chr13	52439935	52439935	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctggaaagaggacaatGccttatgggaaagagaccgg	13	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:52439935G>A	uc010tgr.1	-	0		c.285C>T			CCDC70_uc001vfu.4_Missense_Mutation_p.A141T|CCDC70_uc021rjv.1_Missense_Mutation_p.A141T			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AGAGGACAATGCCTTATGGGA	0.507													A	52439935	G	A	52439935	1	1	4	0	1	0	0	0	0	0	0	0	2843	1319	46	2		2	CCDC70	13	52439935	RNA	SNP	G	TCGA-BR-4184-01A-01D-1126-08	486257	52439935	62729943	3124	5189											
UTP14C	9724	broad.mit.edu	37	chr13	52603935	52603935	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttggccaagaacaaagaacTgacacagaaactccaggtag	10	9	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:52603935T>C	uc001vgb.3	+	1	1557	c.995T>C	c.(994-996)cTg>cCg	p.L332P	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Missense_Mutation_p.L332P	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	332					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AACAAAGAACTGACACAGAAA	0.498													C	52603935	T	C	52603935	3	2	4	1	0	0	0	0	1	0	0	0	17093	1580	55	3	997	3	UTP14C	13	52603935	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	164000	52603935	62565943	3125	5190											
THSD1	55901	broad.mit.edu	37	chr13	52960256	52960256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgagacacactcggcgacGctctctgacaccatccccac	8	17	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:52960256G>A	uc001vgo.3	-	3	1632	c.1087C>T	c.(1087-1089)Cgt>Tgt	p.R363C	THSD1_uc001vgp.3_Intron|THSD1_uc010tgz.2_5'UTR	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	363	TSP type-1.					extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ACTCGGCGACGCTCTCTGACA	0.542													A	52960256	G	A	52960256	3	1	4	1	0	0	0	0	1	0	0	0	15874	1087	38	1	1479	1	THSD1	13	52960256	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	356321	52960256	62209622	3126	5191											
LECT1	11061	broad.mit.edu	37	chr13	53282677	53282677	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaccggaacgcacatgataAggattatcaggattgaaggc	12	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:53282677A>C	uc001vhf.2	-	5	894	c.783T>G	c.(781-783)ccT>ccG	p.P261P	LECT1_uc001vhg.2_Silent_p.P261P|LECT1_uc001vhh.2_Silent_p.P250P	NM_007015	NP_008946	O75829	LECT1_HUMAN	Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA.	261					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		GCACATGATAAGGATTATCAG	0.488													C	53282677	A	C	53282677	2	2	4	1	0	0	0	0	0	0	0	1	8712	59	3	5		5	LECT1	13	53282677	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	322421	53282677	61887201	3127	5192											
PCDH8	5100	broad.mit.edu	37	chr13	53418988	53418988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgaggcgatggatgtgCgttgggcccgctgcaggatg	20	7	0	1	rs141509995		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:53418988C>T	uc001vhi.3	-	2	3124	c.2920G>A	c.(2920-2922)Gca>Aca	p.A974T	PCDH8_uc001vhj.3_Missense_Mutation_p.A877T	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	974					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.A974T(2)|p.N973N(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GATGGATGTGCGTTGGGCCCG	0.597													T	53418988	C	T	53418988	3	4	4	1	0	0	0	0	1	0	0	0	11517	768	27	1	296	1	PCDH8	13	53418988	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	136311	53418988	61750890	3128	5193											
OLFM4	10562	broad.mit.edu	37	chr13	53624246	53624246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggactgtattgggtggcGccattgaatacagatgggag	15	5	0	2	rs147184057		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:53624246G>A	uc001vhl.3	+	4	969	c.873G>A	c.(871-873)gcG>gcA	p.A291A	OLFM4_uc001vhk.2_Intron	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	291	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATTGGGTGGCGCCATTGAATA	0.448													A	53624246	G	A	53624246	2	1	4	1	0	0	0	0	0	0	0	1	10855	1074	38	1		1	OLFM4	13	53624246	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	205258	53624246	61545632	3129	5194											
PCDH17	27253	broad.mit.edu	37	chr13	58208511	58208511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctatctggtgagcactgtgCgcgccctagacagcgacttc	12	13	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:58208511C>T	uc001vhq.1	+	0	2723	c.1831C>T	c.(1831-1833)Cgc>Tgc	p.R611C	PCDH17_uc010aec.1_Missense_Mutation_p.R611C	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	611	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GAGCACTGTGCGCGCCCTAGA	0.657													T	58208511	C	T	58208511	3	4	4	1	0	0	0	0	1	0	0	0	11512	768	27	1	1833	1	PCDH17	13	58208511	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4584265	58208511	56961367	3130	5195											
PCDH20	64881	broad.mit.edu	37	chr13	61986229	61986229	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgacccatccatttcgtccaGcgtcagcatctgttacacta	6	15	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:61986229G>T	uc001vid.4	-	1	2367	c.2003C>A	c.(2002-2004)gCt>gAt	p.A668D	PCDH20_uc010thj.2_Missense_Mutation_p.A668D	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	641	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ATTTCGTCCAGCGTCAGCATC	0.448													T	61986229	G	T	61986229	3	4	4	1	0	0	0	0	1	0	0	0	11515	971	34	5	856	5	PCDH20	13	61986229	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3777718	61986229	53183649	3131	5196											
DACH1	1602	broad.mit.edu	37	chr13	72049901	72049901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctgttctgcttgttcacGccgtttcgtctcaaactcaa	7	13	5	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:72049901G>A	uc021rkj.1	-	8	2380	c.1957C>T	c.(1957-1959)Cgt>Tgt	p.R653C	DACH1_uc021rkk.1_Missense_Mutation_p.R505C|DACH1_uc021rkl.1_Missense_Mutation_p.R451C	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	703	DACHbox-C.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.R652Q(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GCTTGTTCACGCCGTTTCGTC	0.403													A	72049901	G	A	72049901	3	1	4	1	0	0	0	0	1	0	0	0	4220	1087	38	1	181	1	DACH1	13	72049901	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	10063672	72049901	43119977	3132	5197											
LMO7	4008	broad.mit.edu	37	chr13	76379754	76379754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaggatgatctttatgtgCgcaagctcagtccagtcatg	10	8	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:76379754C>T	uc021rkq.1	+	8	1389	c.1054C>T	c.(1054-1056)Cgc>Tgc	p.R352C	LMO7_uc010thv.2_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc001vjv.3_Missense_Mutation_p.R119C|LMO7_uc010thw.2_Intron|LMO7_uc001vjw.1_Intron	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	404						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCTTTATGTGCGCAAGCTCAG	0.413													T	76379754	C	T	76379754	3	4	4	1	0	0	0	0	1	0	0	0	8855	768	27	1	1248	1	LMO7	13	76379754	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4329853	76379754	38790124	3133	5198											
LMO7	4008	broad.mit.edu	37	chr13	76391408	76391408	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaacaagatcagaaatgGcaggatgtgagtattttggg	13	3	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:76391408G>A	uc021rkq.1	+	11	2393	c.2058G>A	c.(2056-2058)tgG>tgA	p.W686*	LMO7_uc010thv.2_Nonsense_Mutation_p.W404*|LMO7_uc001vjt.1_Nonsense_Mutation_p.W352*|LMO7_uc001vjv.3_Nonsense_Mutation_p.W453*|LMO7_uc010thw.2_Nonsense_Mutation_p.W303*|LMO7_uc001vjw.1_Nonsense_Mutation_p.W359*	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	738						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATCAGAAATGGCAGGATGTGA	0.393													A	76391408	G	A	76391408	4	1	4	1	0	0	0	0	0	1	0	0	8855	1212	42	2	2264	2	LMO7	13	76391408	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	11654	76391408	38778470	3134	5199											
LMO7	4008	broad.mit.edu	37	chr13	76408509	76408509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctagtgatggatgtgaggcGctatggaaaggctggtgagt	17	5	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:76408509G>A	uc021rkq.1	+	16	3547	c.3212G>A	c.(3211-3213)cGc>cAc	p.R1071H	LMO7_uc010thv.2_Missense_Mutation_p.R789H|LMO7_uc001vjt.1_Missense_Mutation_p.R737H|LMO7_uc001vjv.3_Missense_Mutation_p.R838H|LMO7_uc010thw.2_Missense_Mutation_p.R688H|LMO7_uc001vjw.1_Missense_Mutation_p.R744H	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1123	PDZ.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GATGTGAGGCGCTATGGAAAG	0.448													A	76408509	G	A	76408509	3	1	4	1	0	0	0	0	1	0	0	0	8855	1087	38	1	3438	1	LMO7	13	76408509	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	17101	76408509	38761369	3135	5200											
FBXL3	26224	broad.mit.edu	37	chr13	77592810	77592810	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagagcaattcacaagttgCgatagtatatcacaagctgc	8	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:77592810C>T	uc001vkd.3	-	2	767	c.396G>A	c.(394-396)tcG>tcA	p.S132S		NM_012158	NP_036290	Q9UKT7	FBXL3_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 3 (FBXL3), mRNA.	132					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|regulation of circadian rhythm|rhythmic process	SCF ubiquitin ligase complex|cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TCACAAGTTGCGATAGTATAT	0.333													T	77592810	C	T	77592810	2	4	4	1	0	0	0	0	0	0	0	1	5720	755	27	1		1	FBXL3	13	77592810	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1184301	77592810	37577068	3136	5201											
MYCBP2	23077	broad.mit.edu	37	chr13	77642784	77642784	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgagccagatattgccgGccaacgttagagccactcag	11	11	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:77642784G>A	uc021rks.1	-	69	12354	c.12087C>T	c.(12085-12087)ggC>ggT	p.G4029G	MYCBP2_uc010aev.3_Silent_p.G3395G|MYCBP2_uc001vke.3_Silent_p.G608G	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	3991					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GATATTGCCGGCCAACGTTAG	0.493													A	77642784	G	A	77642784	2	1	4	1	0	0	0	0	0	0	0	1	10018	1190	42	2		2	MYCBP2	13	77642784	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	49974	77642784	37527094	3137	5202											
MYCBP2	23077	broad.mit.edu	37	chr13	77807298	77807298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaccaaatacctttgtgCttgtcccgtttatgctttag	8	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:77807298C>T	uc021rks.1	-	17	2997	c.2730G>A	c.(2728-2730)aaG>aaA	p.K910K	MYCBP2_uc010aev.3_Silent_p.K276K	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	872					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TACCTTTGTGCTTGTCCCGTT	0.438													T	77807298	C	T	77807298	2	4	4	1	0	0	0	0	0	0	0	1	10018	796	28	2		2	MYCBP2	13	77807298	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	164514	77807298	37362580	3138	5203											
SCEL	8796	broad.mit.edu	37	chr13	78130752	78130752	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gatgaagagcaccactcaggGaaccacacggaagcagcagg	13	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:78130752G>T	uc001vki.3	+	2	235	c.65G>T	c.(64-66)gGa>gTa	p.G22V	SCEL_uc010thx.2_Missense_Mutation_p.G22V|SCEL_uc001vkj.3_Missense_Mutation_p.G22V	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	22					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ACCACTCAGGGAACCACACGG	0.423													T	78130752	G	T	78130752	3	4	4	1	0	0	0	0	1	0	0	0	13888	1174	41	5	71	5	SCEL	13	78130752	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	323454	78130752	37039126	3139	5204											
SCEL	8796	broad.mit.edu	37	chr13	78188060	78188060	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgatgaacatattaatgTcagccccaaagctgtcaaaa	6	9	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:78188060T>C	uc001vki.3	+	23	1591	c.1421T>C	c.(1420-1422)gTc>gCc	p.V474A	SCEL_uc010thx.2_Missense_Mutation_p.V432A|SCEL_uc001vkj.3_Missense_Mutation_p.V454A	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	474	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CATATTAATGTCAGCCCCAAA	0.338													C	78188060	T	C	78188060	3	2	4	1	0	0	0	0	1	0	0	0	13888	1667	58	3	1511	3	SCEL	13	78188060	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	57308	78188060	36981818	3140	5205											
EDNRB	1910	broad.mit.edu	37	chr13	78492681	78492681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccagcgcaaccagggcgcGtccgcacagacttggaggcg	14	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:78492681G>A	uc001vkp.1	-	1	451	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	BX647243_uc001vks.3_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.R10C|EDNRB_uc001vko.2_Missense_Mutation_p.R10C|EDNRB_uc010aez.1_Missense_Mutation_p.R10C	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	10					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	ACCAGGGCGCGTCCGCACAGA	0.647											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	78492681	G	A	78492681	3	1	4	1	0	0	0	0	1	0	0	0	4920	1145	40	1	1449	1	EDNRB	13	78492681	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	304621	78492681	36677197	3141	5206											
EDNRB	1910	broad.mit.edu	37	chr13	78492730	78492730	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctacctgctccagaaggCgtccggtggccgctccgcag	13	16	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:78492730C>T	uc001vkp.1	-	1	402	c.249G>A	c.(247-249)acG>acA	p.T83T	BX647243_uc001vks.3_5'Flank|EDNRB_uc001vkq.1_5'UTR|EDNRB_uc001vko.2_5'UTR|EDNRB_uc010aez.1_5'UTR	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	0					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	p.R83H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CTCCAGAAGGCGTCCGGTGGC	0.637											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	78492730	C	T	78492730	2	4	4	1	0	0	0	0	0	0	0	1	4920	783	27	1		1	EDNRB	13	78492730	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	49	78492730	36677148	3142	5207											
POU4F1	5457	broad.mit.edu	37	chr13	79175910	79175910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggctgagtgagcccacGcccgggatcttgaggttggc	15	12	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:79175910G>A	uc001vkv.3	-	1	1134	c.900C>T	c.(898-900)ggC>ggT	p.G300G	BX647243_uc001vku.1_Intron	NM_006237	NP_006228	Q01851	PO4F1_HUMAN	Homo sapiens POU class 4 homeobox 1 (POU4F1), mRNA.	300	POU-specific.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GTGAGCCCACGCCCGGGATCT	0.662													A	79175910	G	A	79175910	2	1	4	1	0	0	0	0	0	0	0	1	12278	1074	38	1		1	POU4F1	13	79175910	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	683180	79175910	35993968	3143	5208											
RBM26	64062	broad.mit.edu	37	chr13	79943029	79943029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtaggtacagggtagtggCcagatgaaatactaggtacc	13	6	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:79943029C>T	uc001vkz.2	-	5	745	c.731G>A	c.(730-732)gGc>gAc	p.G244D	RBM26_uc001vky.2_Missense_Mutation_p.G244D|RBM26_uc001vla.2_Missense_Mutation_p.G244D|RBM26_uc001vkx.2_5'UTR|RBM26_uc001vlb.1_Non-coding_Transcript	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	Homo sapiens RNA binding motif protein 26 (RBM26), mRNA.	244					mRNA processing		RNA binding|nucleotide binding|protein binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		AGGGTAGTGGCCAGATGAAAT	0.398													T	79943029	C	T	79943029	3	4	4	1	0	0	0	0	1	0	0	0	13126	739	26	2	2275	2	RBM26	13	79943029	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	767119	79943029	35226849	3144	5209											
SLITRK6	84189	broad.mit.edu	37	chr13	86369760	86369760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtggtcttagttgacatgCgactatcatttattgaagat	9	6	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:86369760C>T	uc001vll.1	-	1	1343	c.884G>A	c.(883-885)cGc>cAc	p.R295H	SLITRK6_uc021rla.1_Missense_Mutation_p.R295H	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	295						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AGTTGACATGCGACTATCATT	0.418													T	86369760	C	T	86369760	3	4	4	1	0	0	0	0	1	0	0	0	14747	768	27	1	1645	1	SLITRK6	13	86369760	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	6426731	86369760	28800118	3145	5210											
SLITRK5	26050	broad.mit.edu	37	chr13	88329951	88329951	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatctaccgctcccgagagGgcaactccgtagaggattac	10	14	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:88329951G>T	uc001vln.3	+	1	2527	c.2308G>T	c.(2308-2310)Ggc>Tgc	p.G770C	SLITRK5_uc010tic.1_Missense_Mutation_p.G529C|SLITRK5_uc021rlc.1_Missense_Mutation_p.G770C	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	770						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTCCCGAGAGGGCAACTCCGT	0.627													T	88329951	G	T	88329951	3	4	4	1	0	0	0	0	1	0	0	0	14746	1232	43	5	2310	5	SLITRK5	13	88329951	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1960191	88329951	26839927	3146	5211											
GPC5	2262	broad.mit.edu	37	chr13	92345910	92345910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcactgccaaggcctggcGctcactaagccttgtatggg	12	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:92345910G>A	uc010tif.2	+	2	1161	c.795G>A	c.(793-795)gcG>gcA	p.A265A		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	265						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AAGGCCTGGCGCTCACTAAGC	0.542													A	92345910	G	A	92345910	2	1	4	1	0	0	0	0	0	0	0	1	6601	1074	38	1		1	GPC5	13	92345910	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4015959	92345910	22823968	3147	5212											
GPC6	10082	broad.mit.edu	37	chr13	94958286	94958286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagccctcagatctgcccGctcagctcctgaaaatttta	6	15	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:94958286G>A	uc001vlt.3	+	5	1693	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	GPC6_uc010tig.1_Missense_Mutation_p.R354H	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	354						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				AGATCTGCCCGCTCAGCTCCT	0.478													A	94958286	G	A	94958286	3	1	4	1	0	0	0	0	1	0	0	0	6602	1087	38	1	1083	1	GPC6	13	94958286	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2612376	94958286	20211592	3148	5213											
DZIP1	22873	broad.mit.edu	37	chr13	96239899	96239899	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccttgttttgtggtggCggcacaggaagtgggcctgg	17	9	0	0	rs111764824		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:96239899C>T	uc001vmk.3	-	19	2964	c.2112G>A	c.(2110-2112)ccG>ccA	p.P704P	DZIP1_uc001vmj.3_Silent_p.P180P|DZIP1_uc001vml.3_Silent_p.P685P	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	704					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	p.P685P(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTTGTGGTGGCGGCACAGGAA	0.567													T	96239899	C	T	96239899	2	4	4	1	0	0	0	0	0	0	0	1	4863	755	27	1		1	DZIP1	13	96239899	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1281613	96239899	18929979	3149	5214											
HS6ST3	266722	broad.mit.edu	37	chr13	97485082	97485082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaacctgaagaacatggCcttctttgggctcactgagt	10	10	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:97485082C>T	uc001vmw.3	+	1	1070	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	349						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AAGAACATGGCCTTCTTTGGG	0.468													T	97485082	C	T	97485082	3	4	4	1	0	0	0	0	1	0	0	0	7372	739	26	2	1052	2	HS6ST3	13	97485082	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1245183	97485082	17684796	3150	5215											
OXGR1	27199	broad.mit.edu	37	chr13	97639229	97639229	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgagattcgatccgaatgAccctcaagatatggaagggt	13	8	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:97639229A>C	uc001vmx.1	-	3	1029	c.785T>G	c.(784-786)gTc>gGc	p.V262G	OXGR1_uc010afr.1_Missense_Mutation_p.V262G|OXGR1_uc021rlr.1_Missense_Mutation_p.V262G	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) receptor 1 (OXGR1), mRNA.	262						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			GATCCGAATGACCCTCAAGAT	0.438													C	97639229	A	C	97639229	3	2	4	1	0	0	0	0	1	0	0	0	11332	275	10	5	232	5	OXGR1	13	97639229	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	154147	97639229	17530649	3151	5216											
MBNL2	10150	broad.mit.edu	37	chr13	98009823	98009823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcggtctttaaccccagcGtcttgcactaccagcaggct	10	15	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:98009823G>A	uc010aft.3	+	5	1708	c.892G>A	c.(892-894)Gtc>Atc	p.V298I	MBNL2_uc001vmz.3_Missense_Mutation_p.V298I|MBNL2_uc001vna.3_Missense_Mutation_p.V298I|MBNL2_uc001vnb.3_Non-coding_Transcript|MBNL2_uc010tij.2_Missense_Mutation_p.V143I|MBNL2_uc001vnc.3_Missense_Mutation_p.V31I	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	Homo sapiens muscleblind-like 2 (Drosophila) (MBNL2), transcript variant 1, mRNA.	298					RNA splicing|mRNA processing|regulation of RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	p.V298I(2)|p.V49I(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			TAACCCCAGCGTCTTGCACTA	0.532													A	98009823	G	A	98009823	3	1	4	1	0	0	0	0	1	0	0	0	9354	1145	40	1	910	1	MBNL2	13	98009823	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	370594	98009823	17160055	3152	5217											
RNF113B	140432	broad.mit.edu	37	chr13	98829385	98829385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggggtcgcaggccgggcGctttctgaggcctgcagccc	16	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:98829385G>A	uc001vnk.3	-	0	137	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C	FARP1_uc001vnh.3_Intron|FARP1_uc001vni.3_Intron|FARP1_uc001vnj.3_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	Homo sapiens ring finger protein 113B (RNF113B), mRNA.	36							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CAGGCCGGGCGCTTTCTGAGG	0.687													A	98829385	G	A	98829385	3	1	4	1	0	0	0	0	1	0	0	0	13428	1087	38	1	870	1	RNF113B	13	98829385	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	819562	98829385	16340493	3153	5218											
FARP1	10160	broad.mit.edu	37	chr13	99042215	99042215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattttccctttttagagtgCgtaccaggataccttggaat	8	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:99042215C>T	uc001vnh.3	+	9	1099	c.860C>T	c.(859-861)gCg>gTg	p.A287V	FARP1_uc001vnj.3_Missense_Mutation_p.A287V	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	287	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTTTAGAGTGCGTACCAGGAT	0.413													T	99042215	C	T	99042215	3	4	4	1	0	0	0	0	1	0	0	0	5676	768	27	1	1117	1	FARP1	13	99042215	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	212830	99042215	16127663	3154	5219											
TM9SF2	9375	broad.mit.edu	37	chr13	100172322	100172322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcatcagaaggaaagcGcccatctgaaaatcttggtc	9	11	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:100172322G>A	uc001voj.1	+	2	405	c.272G>A	c.(271-273)cGc>cAc	p.R91H	TM9SF2_uc010afz.1_Missense_Mutation_p.R91H	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA.	91					transport	endosome membrane|integral to plasma membrane		p.R91H(4)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GAAGGAAAGCGCCCATCTGAA	0.343													A	100172322	G	A	100172322	3	1	4	1	0	0	0	0	1	0	0	0	15975	1087	38	1	282	1	TM9SF2	13	100172322	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1130107	100172322	14997556	3155	5220											
TM9SF2	9375	broad.mit.edu	37	chr13	100204534	100204534	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggccctttggttctgcatatCtgtgcctctgacgtttattg	10	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:100204534C>T	uc001voj.1	+	12	1575	c.1442C>T	c.(1441-1443)tCt>tTt	p.S481F	TM9SF2_uc010afz.1_Missense_Mutation_p.S316F	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA.	481					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TTCTGCATATCTGTGCCTCTG	0.393													T	100204534	C	T	100204534	3	4	4	1	0	0	0	0	1	0	0	0	15975	913	32	4	1492	4	TM9SF2	13	100204534	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	32212	100204534	14965344	3156	5221											
PCCA	5095	broad.mit.edu	37	chr13	100909900	100909900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggtgggaaaggcatgcGcattgcttgggatgatgaag	18	4	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:100909900G>A	uc001voo.3	+	8	795	c.689G>A	c.(688-690)cGc>cAc	p.R230H	PCCA_uc010aga.3_Missense_Mutation_p.R204H|PCCA_uc010tiz.2_Missense_Mutation_p.R230H	NM_000282	NP_000273	P05165	PCCA_HUMAN	Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	230	ATP-grasp.|Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	p.R230H(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AAAGGCATGCGCATTGCTTGG	0.443													A	100909900	G	A	100909900	3	1	4	1	0	0	0	0	1	0	0	0	11504	1087	38	1	723	1	PCCA	13	100909900	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	705366	100909900	14259978	3157	5222											
NALCN	259232	broad.mit.edu	37	chr13	101720344	101720344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaacttaaaagctggtcctCctcagtggaataaaacaagg	9	8	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:101720344C>T	uc001vox.1	-	38	4561	c.4372G>A	c.(4372-4374)Gag>Aag	p.E1458K		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1458						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCTGGTCCTCCTCAGTGGAA	0.343													T	101720344	C	T	101720344	3	4	4	1	0	0	0	0	1	0	0	0	10148	864	30	4	868	4	NALCN	13	101720344	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	810444	101720344	13449534	3158	5223											
NALCN	259232	broad.mit.edu	37	chr13	102029307	102029307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtccttggcagttcaaatCggaaataaatccggaatgct	10	8	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:102029307C>T	uc001vox.1	-	4	665	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	NALCN_uc001voy.3_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.R159Q|NALCN_uc001vpa.2_Missense_Mutation_p.R159Q	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	159						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGTTCAAATCGGAAATAAAT	0.373													T	102029307	C	T	102029307	3	4	4	1	0	0	0	0	1	0	0	0	10148	884	31	1	4900	1	NALCN	13	102029307	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	308963	102029307	13140571	3159	5224											
ITGBL1	9358	broad.mit.edu	37	chr13	102359114	102359114	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgcttcacaggccacggcAcatgttcctgtggtcgctgt	12	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:102359114A>G	uc001vpb.3	+	8	1360	c.1141A>G	c.(1141-1143)Aca>Gca	p.T381A	ITGBL1_uc010agb.3_Missense_Mutation_p.T332A|ITGBL1_uc001vpc.4_Missense_Mutation_p.T240A	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	381	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGGCCACGGCACATGTTCCTG	0.463													G	102359114	A	G	102359114	3	3	4	1	0	0	0	0	1	0	0	0	7902	159	6	3	1175	3	ITGBL1	13	102359114	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	329807	102359114	12810764	3160	5225											
TPP2	7174	broad.mit.edu	37	chr13	103286332	103286332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggtgtgagtatcagtgCgccaggaggagccattgctt	14	9	1	1	rs2230855		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:103286332C>T	uc001vpi.4	+	10	1380	c.1277C>T	c.(1276-1278)gCg>gTg	p.A426V		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	426					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	p.A426V(2)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGTATCAGTGCGCCAGGAGGA	0.483													T	103286332	C	T	103286332	3	4	4	1	0	0	0	0	1	0	0	0	16409	768	27	1	1319	1	TPP2	13	103286332	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	927218	103286332	11883546	3161	5226											
KDELC1	79070	broad.mit.edu	37	chr13	103445716	103445716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtcaaagaaagtagtatgGcatccatgaaaattctaaaa	7	5	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:103445716G>A	uc001vpq.4	-	3	1031	c.647C>T	c.(646-648)gCc>gTc	p.A216V	KDELC1_uc001vpr.4_5'UTR	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 1 (KDELC1), mRNA.	216						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAGTAGTATGGCATCCATGAA	0.299													A	103445716	G	A	103445716	3	1	4	1	0	0	0	0	1	0	0	0	8117	1203	42	2	889	2	KDELC1	13	103445716	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	159384	103445716	11724162	3162	5227											
MYO16	23026	broad.mit.edu	37	chr13	109792683	109792683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcctcgaaagcccaagCgcagccccaacaccaagctc	6	19	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:109792683C>T	uc010agk.2	+	31	4745	c.4123C>T	c.(4123-4125)Cgc>Tgc	p.R1375C	MYO16_uc001vqt.1_Missense_Mutation_p.R1353C	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1353					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AAAGCCCAAGCGCAGCCCCAA	0.701													T	109792683	C	T	109792683	3	4	4	1	0	0	0	0	1	0	0	0	10064	768	27	1	4179	1	MYO16	13	109792683	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	6346967	109792683	5377195	3163	5228											
COL4A1	1282	broad.mit.edu	37	chr13	110827668	110827668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaggtgaaccttgtgggCcagggatgccaggcacacct	14	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:110827668C>T	uc001vqw.4	-	36	3217	c.3095G>A	c.(3094-3096)gGc>gAc	p.G1032D		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1032	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			ACCTTGTGGGCCAGGGATGCC	0.502													T	110827668	C	T	110827668	3	4	4	1	0	0	0	0	1	0	0	0	3689	739	26	2	1978	2	COL4A1	13	110827668	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1034985	110827668	4342210	3164	5229											
COL4A1	1282	broad.mit.edu	37	chr13	110839556	110839556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgctctccctgtcatgcCgggctgtcctggaaagcctg	11	16	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:110839556C>T	uc001vqw.4	-	24	1779	c.1657G>A	c.(1657-1659)Ggc>Agc	p.G553S		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	553	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGTCATGCCGGGCTGTCCT	0.582													T	110839556	C	T	110839556	3	4	4	1	0	0	0	0	1	0	0	0	3689	652	23	1	3464	1	COL4A1	13	110839556	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	11888	110839556	4330322	3165	5230											
COL4A1	1282	broad.mit.edu	37	chr13	110859767	110859767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccttttctcccttggtggCgaagtctcctttttcttgaa	7	11	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:110859767C>T	uc001vqw.4	-	12	885	c.763G>A	c.(763-765)Gcc>Acc	p.A255T		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	255	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCTTGGTGGCGAAGTCTCCT	0.413													T	110859767	C	T	110859767	3	4	4	1	0	0	0	0	1	0	0	0	3689	768	27	1	4406	1	COL4A1	13	110859767	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	20211	110859767	4310111	3166	5231											
COL4A2	1284	broad.mit.edu	37	chr13	111130478	111130478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctcctggccaagaggggCccttggggctgccaggaatc	16	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:111130478C>T	uc001vqx.3	+	29	2843	c.2554C>T	c.(2554-2556)Ccc>Tcc	p.P852S		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	852	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCAAGAGGGGCCCTTGGGGCT	0.642													T	111130478	C	T	111130478	3	4	4	1	0	0	0	0	1	0	0	0	3690	739	26	2	2668	2	COL4A2	13	111130478	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	270711	111130478	4039400	3167	5232											
CARS2	79587	broad.mit.edu	37	chr13	111319736	111319736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcactgatgaaagacttcGcactgtgcaatttcgttttc	8	10	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:111319736G>A	uc001vrd.2	-	7	910	c.870C>T	c.(868-870)tgC>tgT	p.C290C	CARS2_uc010tjm.1_Non-coding_Transcript	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	Homo sapiens cysteinyl-tRNA synthetase 2, mitochondrial (putative) (CARS2), nuclear gene encoding mitochondrial protein, mRNA.	290					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GAAAGACTTCGCACTGTGCAA	0.388													A	111319736	G	A	111319736	2	1	4	1	0	0	0	0	0	0	0	1	2658	1079	38	1		1	CARS2	13	111319736	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	189258	111319736	3850142	3168	5233											
PROZ	8858	broad.mit.edu	37	chr13	113826043	113826043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccatccagtgcccaggtgCggggctccccgtgtgcaccc	13	18	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:113826043C>T	uc001vta.1	+	7	834	c.827C>T	c.(826-828)gCg>gTg	p.A276V	PROZ_uc010agr.1_Missense_Mutation_p.A298V	NM_003891	NP_003882	P22891	PROZ_HUMAN	Homo sapiens protein Z, vitamin K-dependent plasma glycoprotein (PROZ), transcript variant 2, mRNA.	276	Peptidase S1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TGCCCAGGTGCGGGGCTCCCC	0.642													T	113826043	C	T	113826043	3	4	4	1	0	0	0	0	1	0	0	0	12562	768	27	1	857	1	PROZ	13	113826043	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2506307	113826043	1343835	3169	5234											
PCID2	55795	broad.mit.edu	37	chr13	113850537	113850537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgctcgcaagaatgatGtactgtattaaggaagatat	11	4	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:113850537G>A	uc021rmt.1	-	4	509	c.428C>T	c.(427-429)aCa>aTa	p.T143I	PCID2_uc021rmq.1_Splice_Site_p.Q89_splice|PCID2_uc021rmr.1_Splice_Site_p.Q89_splice|PCID2_uc021rms.1_Splice_Site_p.Q89_splice	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.	89					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CAAGAATGATGTACTGTATTA	0.338													A	113850537	G	A	113850537	3	1	4	1	0	0	0	0	1	0	0	0	11579	1392	48	4		4	PCID2	13	113850537	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	24494	113850537	1319341	3170	5235											
LAMP1	3916	broad.mit.edu	37	chr13	113975905	113975905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgccaacggctccctgcGagcgctgcaggccacagtcg	13	16	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:113975905G>A	uc001vtm.1	+	7	1258	c.977G>A	c.(976-978)cGa>cAa	p.R326Q	LAMP1_uc010tka.1_Missense_Mutation_p.R273Q	NM_005561	NP_005552	P11279	LAMP1_HUMAN	Homo sapiens lysosomal-associated membrane protein 1 (LAMP1), mRNA.	326	Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GGCTCCCTGCGAGCGCTGCAG	0.607													A	113975905	G	A	113975905	3	1	4	1	0	0	0	0	1	0	0	0	8617	1058	37	1	1007	1	LAMP1	13	113975905	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	125368	113975905	1193973	3171	5236											
GAS6	2621	broad.mit.edu	37	chr13	114526405	114526405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgccacagagagaggcacGgcacggaggtcgggggccca	18	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:114526405G>A	uc001vug.3	-	4	1751	c.699C>T	c.(697-699)gcC>gcT	p.A233A	GAS6_uc001vud.3_Silent_p.A532A|GAS6_uc001vuf.3_Silent_p.A259A	NM_001143946	NP_001137418	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 3, mRNA.	575	EGF-like 3; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				AGAGAGGCACGGCACGGAGGT	0.627													A	114526405	G	A	114526405	2	1	4	1	0	0	0	0	0	0	0	1	6249	1103	39	1		1	GAS6	13	114526405	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	550500	114526405	643473	3172	5237											
GAS6	2621	broad.mit.edu	37	chr13	114542718	114542718	+	Frame_Shift_Del	DEL	C	C	-													tacctttgtcgcagagccggCccccccagccagctttacac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:114542717_114542717GC>G	uc001vud.3	-	4	603	c.450_450GC>C	c.(448-450)ggcfs	p.G150fs	FLJ41484_uc010tki.2_5'Flank	NM_000820	NP_001137417	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 1, mRNA.	150	EGF-like 1; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CGCAGAGCCGGCCCCCCCAGC	0.647													-	114542718	C	-	114542718	7	5	4	1	0	1	0	1	0	0	0	0	6249	739	26	0	1631	0	GAS6	13	114542718	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	16313	114542718	627160	3173	5238											
OR4K5	79317	broad.mit.edu	37	chr14	20388997	20388997	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcaggcttcttttgctAcccctaaaatgattgcagat	7	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:20388997A>G	uc010tkw.2	+	0	232	c.232A>G	c.(232-234)Acc>Gcc	p.T78A		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTTTTGCTACCCCTAAAAT	0.428													G	20388997	A	G	20388997	3	3	4	1	0	0	0	0	1	0	0	0	11073	391	14	3	234	3	OR4K5	14	20388997	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08		20388997	86960543	3174	5239											
OR4K1	79544	broad.mit.edu	37	chr14	20403904	20403904	+	Frame_Shift_Del	DEL	T	T	-													cctggggacttcaacttttcTtttttgccatcttctctata							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:20403903_20403903CT>C	uc001vwj.2	+	0	137	c.78_78CT>C	c.(76-78)ttcfs	p.F26fs		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F26L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTCAACTTTTCTTTTTTGCCA	0.368													-	20403904	T	-	20403904	7	5	4	1	0	1	0	1	0	0	0	0	11067	1609	56	0	81	0	OR4K1	14	20403904	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	14907	20403904	86945636	3175	5240											
OR4K1	79544	broad.mit.edu	37	chr14	20404274	20404274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtgtctatttcctgggCggtgggcgttcttcattctg	12	8	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:20404274C>T	uc001vwj.2	+	0	508	c.449C>T	c.(448-450)gCg>gTg	p.A150V		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A150A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATTTCCTGGGCGGTGGGCGTT	0.463													T	20404274	C	T	20404274	3	4	4	1	0	0	0	0	1	0	0	0	11067	768	27	1	451	1	OR4K1	14	20404274	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	370	20404274	86945266	3176	5241											
OR4K1	79544	broad.mit.edu	37	chr14	20404350	20404350	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtcccaatgaggtggaTagcttcttttgtgaccttcc	11	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:20404350T>C	uc001vwj.2	+	0	584	c.525T>C	c.(523-525)gaT>gaC	p.D175D		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATGAGGTGGATAGCTTCTTTT	0.453													C	20404350	T	C	20404350	2	2	4	1	0	0	0	0	0	0	0	1	11067	1403	49	3		3	OR4K1	14	20404350	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	76	20404350	86945190	3177	5242											
TTC5	91875	broad.mit.edu	37	chr14	20763639	20763639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggcctagatgggctgggCgcaagcttcccagcatgctc	14	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:20763639C>T	uc001vwt.3	-	7	947	c.890G>A	c.(889-891)cGc>cAc	p.R297H	TTC5_uc001vwu.3_Missense_Mutation_p.R154H	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA.	297					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		ATGGGCTGGGCGCAAGCTTCC	0.547													T	20763639	C	T	20763639	3	4	4	1	0	0	0	0	1	0	0	0	16708	768	27	1	444	1	TTC5	14	20763639	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	359289	20763639	86585901	3178	5243											
CCNB1IP1	57820	broad.mit.edu	37	chr14	20784573	20784573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgactaaactcaccactgCcatgctgatcacagaagatg	8	12	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:20784573C>T	uc021rnp.1	-	4	721	c.110G>A	c.(109-111)gGc>gAc	p.G37D	CCNB1IP1_uc001vwv.3_Missense_Mutation_p.G37D|CCNB1IP1_uc001vwx.3_Missense_Mutation_p.G37D|CCNB1IP1_uc001vwy.3_Missense_Mutation_p.G37D|CCNB1IP1_uc001vwz.3_Missense_Mutation_p.G37D|CCNB1IP1_uc010ahh.1_Non-coding_Transcript	NM_182852	NP_878272	Q9NPC3	CIP1_HUMAN	Homo sapiens cyclin B1 interacting protein 1, E3 ubiquitin protein ligase (CCNB1IP1), transcript variant 4, mRNA.	37						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		CTCACCACTGCCATGCTGATC	0.483			T	HMGA2	leiomyoma								T	20784573	C	T	20784573	3	4	4	1	0	0	0	0	1	0	0	0	2912	739	26	2	735	2	CCNB1IP1	14	20784573	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	20934	20784573	86564967	3179	5244											
TEP1	7011	broad.mit.edu	37	chr14	20836631	20836631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtacacattgccctgcaCgtctcccacggcaagctgca	8	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:20836631C>T	uc001vxe.3	-	54	7889	c.7849G>A	c.(7849-7851)Gtg>Atg	p.V2617M	TEP1_uc010ahj.1_Non-coding_Transcript|TEP1_uc010ahk.3_3'UTR|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.V2509M	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	2617					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTGCCCTGCACGTCTCCCACG	0.547													T	20836631	C	T	20836631	3	4	4	1	0	0	0	0	1	0	0	0	15756	536	19	1	38	1	TEP1	14	20836631	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	52058	20836631	86512909	3180	5245											
TEP1	7011	broad.mit.edu	37	chr14	20853143	20853143	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaggcaacagacagtaCctgaggaagctggaatcccg	12	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:20853143C>T	uc001vxe.3	-	21	3147	c.3107_splice	c.e21+1	p.S1036_splice	TEP1_uc010ahk.3_Splice_Site_p.S386_splice|TEP1_uc010tlf.1_Splice_Site|TEP1_uc010tlg.1_Splice_Site_p.S928_splice|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1036					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACAGACAGTACCTGAGGAAGC	0.552													T	20853143	C	T	20853143	5	4	4	1	0	0	0	0	0	0	1	0	15756	521	18	4	4915	4	TEP1	14	20853143	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	16512	20853143	86496397	3181	5246											
RNASE4	6038	broad.mit.edu	37	chr14	21167643	21167643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtaccagcgattcctgcGgcaacacgtgcaccctgagg	11	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:21167643G>A	uc021rol.1	+	0	113	c.113G>A	c.(112-114)cGg>cAg	p.R38Q	RNASE4_uc001vxy.4_Missense_Mutation_p.R38Q|RNASE4_uc001vxx.4_Non-coding_Transcript|RNASE4_uc001vya.3_Missense_Mutation_p.R38Q	NM_194431	NP_919412	P34096	RNAS4_HUMAN	Homo sapiens ribonuclease, RNase A family, 4 (RNASE4), transcript variant 3, mRNA.	38					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		CGATTCCTGCGGCAACACGTG	0.557													A	21167643	G	A	21167643	3	1	4	1	0	0	0	0	1	0	0	0	13406	1116	39	1	115	1	RNASE4	14	21167643	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	314500	21167643	86181897	3182	5247											
HNRNPC	3183	broad.mit.edu	37	chr14	21702318	21702318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacacgggagttcatggagCgaggatctgtcttgttggta	14	6	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:21702318C>T	uc001vzy.3	-	2	279	c.35G>A	c.(34-36)cGc>cAc	p.R12H	HNRNPC_uc001vzw.3_Missense_Mutation_p.R12H|HNRNPC_uc001wad.3_Missense_Mutation_p.R12H|HNRNPC_uc001vzx.3_Non-coding_Transcript|HNRNPC_uc001vzz.3_Missense_Mutation_p.R12H|HNRNPC_uc001waa.3_Missense_Mutation_p.R12H|HNRNPC_uc010ail.3_Missense_Mutation_p.R12H|HNRNPC_uc010tlq.2_Non-coding_Transcript|HNRNPC_uc001wac.3_Missense_Mutation_p.R12H|HNRNPC_uc001wae.3_Missense_Mutation_p.R12H	NM_031314	NP_112604	P07910	HNRPC_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C (C1/C2) (HNRNPC), transcript variant 1, mRNA.	12						catalytic step 2 spliceosome|nucleoplasm	RNA binding|identical protein binding|nucleotide binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		GTTCATGGAGCGAGGATCTGT	0.428													T	21702318	C	T	21702318	3	4	4	1	0	0	0	0	1	0	0	0	7262	768	27	1	913	1	HNRNPC	14	21702318	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	534675	21702318	85647222	3183	5248											
CHD8	57680	broad.mit.edu	37	chr14	21873401	21873401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtggttgcagcacttgcGcaactccatcattgtgttaa	11	9	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:21873401G>A	uc001war.2	-	14	3339	c.3274C>T	c.(3274-3276)Cgc>Tgc	p.R1092C	CHD8_uc001was.2_Missense_Mutation_p.R813C|CHD8_uc001wav.1_Missense_Mutation_p.R255C	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1092					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding	p.R1092H(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CAGCACTTGCGCAACTCCATC	0.433													A	21873401	G	A	21873401	3	1	4	1	0	0	0	0	1	0	0	0	3331	1087	38	1	4563	1	CHD8	14	21873401	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	171083	21873401	85476139	3184	5249											
OR10G3	26533	broad.mit.edu	37	chr14	22038134	22038134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatagtacacggtgaccaCggttacatgggctccacaag	10	12	0	1	rs142649226	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:22038134C>T	uc010tmb.2	-	0	742	c.742G>A	c.(742-744)Gtg>Atg	p.V248M		NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V248M(2)|p.V248L(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		ACGGTGACCACGGTTACATGG	0.577													T	22038134	C	T	22038134	3	4	4	1	0	0	0	0	1	0	0	0	10900	536	19	1	202	1	OR10G3	14	22038134	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	164733	22038134	85311406	3185	5250											
HAUS4	54930	broad.mit.edu	37	chr14	23416833	23416833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttaaggatcatagcaccGcacttgacttccaggtactg	9	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:23416833G>A	uc001whw.3	-	7	1065	c.816C>T	c.(814-816)tgC>tgT	p.C272C	HAUS4_uc001who.3_Non-coding_Transcript|HAUS4_uc001wht.3_Silent_p.C272C|HAUS4_uc001whu.3_Silent_p.C227C|HAUS4_uc001whv.3_Silent_p.C148C|HAUS4_uc001whq.3_Silent_p.C146C	NM_001166269	NP_060285	Q9H6D7	HAUS4_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 4 (HAUS4), transcript variant 1, mRNA.	272					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						TCATAGCACCGCACTTGACTT	0.512													A	23416833	G	A	23416833	2	1	4	1	0	0	0	0	0	0	0	1	6968	1079	38	1		1	HAUS4	14	23416833	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1378699	23416833	83932707	3186	5251											
IL25	64806	broad.mit.edu	37	chr14	23845030	23845030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagggctactgcctggagCgcaggctgtaccgtgtttcc	13	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:23845030C>T	uc001wjr.3	+	1	733	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	IL25_uc001wjq.3_Missense_Mutation_p.R143C|CMTM5_uc010akn.3_5'Flank|CMTM5_uc001wju.3_5'Flank|CMTM5_uc010ako.3_5'Flank|CMTM5_uc001wjs.3_5'Flank|CMTM5_uc001wjt.3_5'Flank|CMTM5_uc010akm.3_5'Flank	NM_022789	NP_073626	Q9H293	IL25_HUMAN	Homo sapiens interleukin 25 (IL25), transcript variant 1, mRNA.	159					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		CTGCCTGGAGCGCAGGCTGTA	0.627													T	23845030	C	T	23845030	3	4	4	1	0	0	0	0	1	0	0	0	7678	768	27	1	494	1	IL25	14	23845030	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	428197	23845030	83504510	3187	5252											
MYH6	4624	broad.mit.edu	37	chr14	23862233	23862233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcgctccaggtccatgcGcaccttcttctcttgctcta	7	16	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:23862233G>A	uc001wjv.3	-	23	3210	c.3139C>T	c.(3139-3141)Cgc>Tgc	p.R1047C		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1047					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGGTCCATGCGCACCTTCTTC	0.498													A	23862233	G	A	23862233	3	1	4	1	0	0	0	0	1	0	0	0	10038	1087	38	1	2744	1	MYH6	14	23862233	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	17203	23862233	83487307	3188	5253											
MYH7	4625	broad.mit.edu	37	chr14	23886441	23886441	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgttcttgagtttgaagagCtctgtgctgagggagcgagc	16	7	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:23886441C>A	uc001wjx.3	-	31	4546	c.4440G>T	c.(4438-4440)gaG>gaT	p.E1480D		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1480					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTTGAAGAGCTCTGTGCTGA	0.587													A	23886441	C	A	23886441	3	1	4	1	0	0	0	0	1	0	0	0	10039	796	28	5	1403	5	MYH7	14	23886441	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	24208	23886441	83463099	3189	5254											
DHRS4	10901	broad.mit.edu	37	chr14	24470629	24470629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcagtaaaacagccttgCtgggcctcaacaataccctg	8	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:24470629C>T	uc001wli.4	+	5	698	c.568C>T	c.(568-570)Ctg>Ttg	p.L190L	DHRS4_uc021rrd.1_Intron|DHRS4_uc021rrf.1_Intron|DHRS4_uc001wld.4_Intron|DHRS4_uc001wle.4_Intron|DHRS4_uc001wlc.4_Intron|DHRS4_uc021rrb.1_Silent_p.L89L|DHRS4_uc021rrc.1_Silent_p.L48L|DHRS4_uc021rre.1_Silent_p.L128L|DHRS4_uc010tnt.2_Silent_p.L113L|DHRS4_uc010alb.3_Silent_p.L64L	NM_198083	NP_001180565	Q9BTZ2	DHRS4_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 4 like 2 (DHRS4L2), transcript variant 1, mRNA.	190						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	AACAGCCTTGCTGGGCCTCAA	0.473													T	24470629	C	T	24470629	2	4	4	1	0	0	0	0	0	0	0	1	4492	796	28	2		2	DHRS4	14	24470629	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	584188	24470629	82878911	3190	5255											
PCK2	5106	broad.mit.edu	37	chr14	24572751	24572751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacgacccatttgccatgCggcccttttttggctacaac	8	14	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:24572751C>T	uc001wlt.3	+	9	1633	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	NRL_uc001wlq.3_Intron|PCK2_uc010tnw.2_Missense_Mutation_p.R367W|PCK2_uc010tnx.2_Missense_Mutation_p.R367W|PCK2_uc001wlu.4_Missense_Mutation_p.R335W	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	501					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		ATTTGCCATGCGGCCCTTTTT	0.577													T	24572751	C	T	24572751	3	4	4	1	0	0	0	0	1	0	0	0	11582	759	27	1	1631	1	PCK2	14	24572751	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	102122	24572751	82776789	3191	5256											
RNF31	55072	broad.mit.edu	37	chr14	24618731	24618731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttccatggacacccatccCgtgctcatcacctccgccag	7	18	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:24618731C>T	uc001wmn.1	+	5	997	c.748C>T	c.(748-750)Cgt>Tgt	p.R250C	PSME2_uc001wmj.3_5'Flank|RNF31_uc001wml.1_Missense_Mutation_p.R99C|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.R65C|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	250	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ACACCCATCCCGTGCTCATCA	0.607													T	24618731	C	T	24618731	3	4	4	1	0	0	0	0	1	0	0	0	13487	652	23	1	770	1	RNF31	14	24618731	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	45980	24618731	82730809	3192	5257											
RNF31	55072	broad.mit.edu	37	chr14	24620776	24620776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacggaggtgatgtgtcacGggccctgactgagctacagc	15	11	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:24620776G>A	uc001wmn.1	+	9	2069	c.1820G>A	c.(1819-1821)cGg>cAg	p.R607Q	RNF31_uc001wml.1_Missense_Mutation_p.R456Q|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.R366Q|RNF31_uc001wmo.1_Missense_Mutation_p.R74Q|RNF31_uc001wmp.3_Non-coding_Transcript	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	607	Interaction with RBCK1.|UBA.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GATGTGTCACGGGCCCTGACT	0.642													A	24620776	G	A	24620776	3	1	4	1	0	0	0	0	1	0	0	0	13487	1116	39	1	1858	1	RNF31	14	24620776	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2045	24620776	82728764	3193	5258											
REC8	9985	broad.mit.edu	37	chr14	24642219	24642219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagatcggtgtgatccgCgtctattctcaacaatgcca	8	12	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:24642219C>T	uc001wmr.3	+	3	664	c.237C>T	c.(235-237)cgC>cgT	p.R79R	REC8_uc001wms.3_Silent_p.R79R	NM_005132	NP_005123	O95072	REC8_HUMAN	Homo sapiens REC8 homolog (yeast) (REC8), transcript variant 1, mRNA.	79					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		p.R79R(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GTGTGATCCGCGTCTATTCTC	0.602													T	24642219	C	T	24642219	2	4	4	1	0	0	0	0	0	0	0	1	13199	755	27	1		1	REC8	14	24642219	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	21443	24642219	82707321	3194	5259											
IPO4	79711	broad.mit.edu	37	chr14	24654160	24654160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcatgcattccataagctCcggaaggtagggctgcacct	11	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:24654160C>T	uc001wmv.1	-	14	2456	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_Missense_Mutation_p.E141K|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Missense_Mutation_p.E343K|IPO4_uc001wmy.1_Missense_Mutation_p.E343K|IPO4_uc001wmz.2_Missense_Mutation_p.E479K	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	479					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TCCATAAGCTCCGGAAGGTAG	0.627													T	24654160	C	T	24654160	3	4	4	1	0	0	0	0	1	0	0	0	7795	864	30	4	1874	4	IPO4	14	24654160	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	11941	24654160	82695380	3195	5260											
TM9SF1	10548	broad.mit.edu	37	chr14	24679618	24679618	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgagggttcttcttccttGtcgcccacatttaacaactc	6	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:24679618G>A	uc010tob.1	-	4	1258	c.624C>T	c.(622-624)gaC>gaT	p.D208D	TM9SF1_uc010toc.2_Non-coding_Transcript|TM9SF1_uc001wni.3_Silent_p.D225D|TM9SF1_uc001wnj.3_Silent_p.D225D	NM_006405	NP_006396	O15321	TM9S1_HUMAN	Homo sapiens transmembrane 9 superfamily member 1 (TM9SF1), transcript variant 1, mRNA.	0					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		CTTCTTCCTTGTCGCCCACAT	0.507													A	24679618	G	A	24679618	2	1	4	1	0	0	0	0	0	0	0	1	15974	1368	48	4		4	TM9SF1	14	24679618	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	25458	24679618	82669922	3196	5261											
TINF2	26277	broad.mit.edu	37	chr14	24709343	24709344	+	Frame_Shift_Del	DEL	CA	CA	-													ctatggtaatgacggagctgCacagagacggaggacacact							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:24709342_24709343GCA>G	uc001woa.4	-	7	1490_1491	c.1148_1149TGC>C	c.(1147-1149)tgcfs	p.C383fs	TINF2_uc010alm.3_3'UTR|TINF2_uc001wob.4_3'UTR|TINF2_uc010tof.2_Frame_Shift_Del_p.C348fs|TINF2_uc001woc.4_3'UTR	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN	Homo sapiens TERF1 (TRF1)-interacting nuclear factor 2 (TINF2), transcript variant 1, mRNA.	383					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		TGACGGAGCTGCACAGAGACGG	0.505									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				-	24709344	CA	-	24709343	7	5	4	1	0	1	0	1	0	0	0	0	15920	710	25	0	215	0	TINF2	14	24709343	Frame_Shift_Del	DEL	CA	TCGA-BR-4184-01A-01D-1126-08	29725	24709343	82640197	3197	5262											
TGM1	7051	broad.mit.edu	37	chr14	24718610	24718610	+	Frame_Shift_Del	DEL	G	G	-													agcccccatccccaggggctGgggccacatccacctggatg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:24718609_24718609TG>T	uc001wod.3	-	14	2488	c.2364_2364CA>A	c.(2362-2364)ccafs	p.P788fs	TGM1_uc010tog.2_Frame_Shift_Del_p.P346fs	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	788					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CCCCAGGGGCTGGGGCCACAT	0.632													-	24718610	G	-	24718610	7	5	4	1	0	1	0	1	0	0	0	0	15826	1348	47	0	94	0	TGM1	14	24718610	Frame_Shift_Del	DEL	G	TCGA-BR-4184-01A-01D-1126-08	9267	24718610	82630930	3198	5263											
ADCY4	196883	broad.mit.edu	37	chr14	24791279	24791279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaggagtcacctcgttgCgccggttctggccaatgaac	13	12	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:24791279C>T	uc001wow.3	-	19	2998	c.2579G>A	c.(2578-2580)cGc>cAc	p.R860H	ADCY4_uc010toh.2_Missense_Mutation_p.R546H|ADCY4_uc001wox.3_Missense_Mutation_p.R860H|ADCY4_uc001woy.3_Missense_Mutation_p.R860H	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	860					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding	p.R859W(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CACCTCGTTGCGCCGGTTCTG	0.582													T	24791279	C	T	24791279	3	4	4	1	0	0	0	0	1	0	0	0	296	768	27	1	678	1	ADCY4	14	24791279	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	72669	24791279	82558261	3199	5264											
KHNYN	23351	broad.mit.edu	37	chr14	24900835	24900835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctcactgatgatcagtgGcctgactgaagcctttgtca	11	10	3	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:24900835G>A	uc010tpc.2	+	2	507	c.491G>A	c.(490-492)gGc>gAc	p.G164D	KHNYN_uc001wph.4_Missense_Mutation_p.G123D|KHNYN_uc010alw.3_Missense_Mutation_p.G123D|CBLN3_uc001wpg.4_5'Flank	NM_015299	NP_056114	O15037	KHNYN_HUMAN	Homo sapiens KH and NYN domain containing (KHNYN), mRNA.	123										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						ATGATCAGTGGCCTGACTGAA	0.617											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	24900835	G	A	24900835	3	1	4	1	0	0	0	0	1	0	0	0	8150	1203	42	2	374	2	KHNYN	14	24900835	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	109556	24900835	82448705	3200	5265											
HECTD1	25831	broad.mit.edu	37	chr14	31604296	31604296	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatttaaagctgaattatcAcgacttagtatgtcttctaa	5	7	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:31604296A>G	uc001wrc.1	-	21	3849	c.3360T>C	c.(3358-3360)cgT>cgC	p.R1120R	HECTD1_uc001wrd.1_Silent_p.R635R	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	1120					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTGAATTATCACGACTTAGTA	0.408													G	31604296	A	G	31604296	2	3	4	1	0	0	0	0	0	0	0	1	7039	146	6	3		3	HECTD1	14	31604296	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	6703461	31604296	75745244	3201	5266											
BAZ1A	11177	broad.mit.edu	37	chr14	35240741	35240741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagctttcagaaaacgccGctcaatgccctgctctattt	8	12	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:35240741G>A	uc001wsk.3	-	20	3845	c.3277C>T	c.(3277-3279)Cgg>Tgg	p.R1093W	BAZ1A_uc001wsl.3_Missense_Mutation_p.R1061W	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	1093					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AGAAAACGCCGCTCAATGCCC	0.368													A	35240741	G	A	35240741	3	1	4	1	0	0	0	0	1	0	0	0	1329	1086	38	1	1421	1	BAZ1A	14	35240741	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3636445	35240741	72108799	3202	5267											
KIAA0391	9692	broad.mit.edu	37	chr14	35739649	35739649	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatgccacactgcactcCgggaatcactgcaggtttat	9	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:35739649C>T	uc001wsy.1	+	6	1827	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	KIAA0391_uc010tps.1_Silent_p.S394S|KIAA0391_uc001wsz.1_Silent_p.S473S|KIAA0391_uc001wta.3_Non-coding_Transcript|KIAA0391_uc001wtc.1_Silent_p.S117S	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Homo sapiens KIAA0391 (KIAA0391), mRNA.	489					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CACTGCACTCCGGGAATCACT	0.527													T	35739649	C	T	35739649	2	4	4	1	0	0	0	0	0	0	0	1	8172	639	23	1		1	KIAA0391	14	35739649	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	498908	35739649	71609891	3203	5268											
RALGAPA1	253959	broad.mit.edu	37	chr14	36133925	36133925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagttcacaatataagttggGaaagcaaaccaaagatccca	7	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:36133925G>A	uc001wtj.3	-	25	4124	c.3733C>T	c.(3733-3735)Ccc>Tcc	p.P1245S	RALGAPA1_uc010amp.3_Non-coding_Transcript|RALGAPA1_uc001wti.3_Missense_Mutation_p.P1245S|RALGAPA1_uc010tpv.2_Missense_Mutation_p.P1258S|RALGAPA1_uc010tpw.1_Missense_Mutation_p.P1292S	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	1245					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TATAAGTTGGGAAAGCAAACC	0.338													A	36133925	G	A	36133925	3	1	4	1	0	0	0	0	1	0	0	0	13013	1174	41	4	2590	4	RALGAPA1	14	36133925	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	394276	36133925	71215615	3204	5269											
SSTR1	6751	broad.mit.edu	37	chr14	38678974	38678974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccactggcccttcggtgCgctgctctgccgcctcgtgc	13	18	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:38678974C>T	uc021rsi.1	+	0	380	c.380C>T	c.(379-381)gCg>gTg	p.A127V	SSTR1_uc001wul.1_Missense_Mutation_p.A127V	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	127					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	p.A127A(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CCCTTCGGTGCGCTGCTCTGC	0.592													T	38678974	C	T	38678974	3	4	4	1	0	0	0	0	1	0	0	0	15196	768	27	1	382	1	SSTR1	14	38678974	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2545049	38678974	68670566	3205	5270											
SSTR1	6751	broad.mit.edu	37	chr14	38679346	38679346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcatcattgctaagatgcGcatggtggccctcaaggccg	12	12	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:38679346G>A	uc021rsi.1	+	0	752	c.752G>A	c.(751-753)cGc>cAc	p.R251H	SSTR1_uc001wul.1_Missense_Mutation_p.R251H	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	251					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	p.M250I(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GCTAAGATGCGCATGGTGGCC	0.582													A	38679346	G	A	38679346	3	1	4	1	0	0	0	0	1	0	0	0	15196	1087	38	1	754	1	SSTR1	14	38679346	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	372	38679346	68670194	3206	5271											
CLEC14A	161198	broad.mit.edu	37	chr14	38724733	38724733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcacaggtagccgttggcGcgcaggtggcatcgcatctc	14	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:38724733G>A	uc001wum.1	-	0	842	c.495C>T	c.(493-495)cgC>cgT	p.R165R		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	165	C-type lectin.					integral to membrane	sugar binding	p.L164V(1)|p.R165L(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AGCCGTTGGCGCGCAGGTGGC	0.682													A	38724733	G	A	38724733	2	1	4	1	0	0	0	0	0	0	0	1	3499	1074	38	1		1	CLEC14A	14	38724733	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	45387	38724733	68624807	3207	5272											
KLHL28	54813	broad.mit.edu	37	chr14	45400591	45400591	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgattttgatgaggatcGtatctttcaatgctggacaa	9	7	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:45400591G>A	uc001wvq.3	-	3	1743	c.1497C>T	c.(1495-1497)taC>taT	p.Y499Y	KLHL28_uc001wvr.3_Silent_p.Y499Y	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	Homo sapiens kelch-like 28 (Drosophila) (KLHL28), mRNA.	499										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GATGAGGATCGTATCTTTCAA	0.378													A	45400591	G	A	45400591	2	1	4	1	0	0	0	0	0	0	0	1	8382	1140	40	1		1	KLHL28	14	45400591	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	6675858	45400591	61948949	3208	5273											
KLHL28	54813	broad.mit.edu	37	chr14	45414534	45414534	+	Frame_Shift_Del	DEL	A	A	-													gatccaagactctaatgcatAaaaaacagtctcttcggtag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:45414533_45414533TA>T	uc001wvq.3	-	1	845	c.599_599TA>A	c.(598-600)tatfs	p.Y200fs	KLHL28_uc001wvr.3_Frame_Shift_Del_p.Y200fs|KLHL28_uc001wvt.4_Frame_Shift_Del_p.Y200fs	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	Homo sapiens kelch-like 28 (Drosophila) (KLHL28), mRNA.	200										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CTCTAATGCATAAAAAACAGT	0.368													-	45414534	A	-	45414534	7	5	4	1	0	1	0	1	0	0	0	0	8382	362	13	0	1133	0	KLHL28	14	45414534	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	13943	45414534	61935006	3209	5274											
FAM179B	23116	broad.mit.edu	37	chr14	45473399	45473399	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtctcatcacctcgaaCtagtccaaagcatacatctc	4	15	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:45473399C>G	uc001wvw.3	+	3	2683	c.2474C>G	c.(2473-2475)aCt>aGt	p.T825S	FAM179B_uc001wvv.3_Missense_Mutation_p.T825S|FAM179B_uc010anc.3_Non-coding_Transcript|FAM179B_uc001wvu.3_Missense_Mutation_p.T825S	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	825							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TCACCTCGAACTAGTCCAAAG	0.393													G	45473399	C	G	45473399	3	3	4	1	0	0	0	0	1	0	0	0	5506	565	20	5	2488	5	FAM179B	14	45473399	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	58865	45473399	61876141	3210	5275											
PRPF39	55015	broad.mit.edu	37	chr14	45579902	45579902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggatgccattaagaatgCcaaatcaaataatgaatctt	6	7	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:45579902C>T	uc001wvz.4	+	9	1624	c.1454C>T	c.(1453-1455)gCc>gTc	p.A485V	PRPF39_uc001wvy.4_Missense_Mutation_p.A364V|PRPF39_uc010and.3_Missense_Mutation_p.A275V|PRPF39_uc001wwa.1_Missense_Mutation_p.A89V|SNORD127_uc010ane.3_5'Flank	NM_017922	NP_060392	Q86UA1	PRP39_HUMAN	Homo sapiens PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae) (PRPF39), mRNA.	485					RNA splicing|mRNA processing	nucleus	binding	p.L483_K484>*(1)		breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						ATTAAGAATGCCAAATCAAAT	0.378													T	45579902	C	T	45579902	3	4	4	1	0	0	0	0	1	0	0	0	12569	739	26	2	1488	2	PRPF39	14	45579902	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	106503	45579902	61769638	3211	5276											
FANCM	57697	broad.mit.edu	37	chr14	45667954	45667954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcctgccaagaagaaaccGcagatttgctaaaggaactg	10	9	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:45667954G>A	uc001wwd.4	+	21	5923	c.5824G>A	c.(5824-5826)Gca>Aca	p.A1942T	FANCM_uc010anf.3_Missense_Mutation_p.A1916T|FANCM_uc001wwe.4_Missense_Mutation_p.A1478T|FANCM_uc010ang.3_Missense_Mutation_p.A1191T	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1942	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGAAGAAACCGCAGATTTGCT	0.408								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	45667954	G	A	45667954	3	1	4	1	0	0	0	0	1	0	0	0	5671	1087	38	1	5910	1	FANCM	14	45667954	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	88052	45667954	61681586	3212	5277											
NIN	51199	broad.mit.edu	37	chr14	51210171	51210171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctgtgactttaagctcGcactctgatgttcccaggat	9	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:51210171G>A	uc001wyi.3	-	23	5455	c.5264C>T	c.(5263-5265)gCg>gTg	p.A1755V	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.A1755V|NIN_uc001wyk.3_Missense_Mutation_p.A1042V|NIN_uc001wyo.3_Missense_Mutation_p.A1755V	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1755					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTTTAAGCTCGCACTCTGATG	0.423			T	PDGFRB	MPD								A	51210171	G	A	51210171	3	1	4	1	0	0	0	0	1	0	0	0	10417	1087	38	1	1317	1	NIN	14	51210171	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5542217	51210171	56139369	3213	5278											
NIN	51199	broad.mit.edu	37	chr14	51259463	51259463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggctgggatgtgtgaaggCcgcgcttcttcatccagtgg	15	11	2	1	rs146441468		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:51259463C>T	uc001wyi.3	-	4	593	c.402G>A	c.(400-402)cgG>cgA	p.R134R	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Silent_p.R134R|NIN_uc001wyk.3_Silent_p.R134R|NIN_uc001wyo.3_Silent_p.R134R|NIN_uc001wyp.1_Silent_p.R96R	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	134					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGTGTGAAGGCCGCGCTTCTT	0.572			T	PDGFRB	MPD								T	51259463	C	T	51259463	2	4	4	1	0	0	0	0	0	0	0	1	10417	726	26	2		2	NIN	14	51259463	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	49292	51259463	56090077	3214	5279											
TRIM9	114088	broad.mit.edu	37	chr14	51448575	51448575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttattgtccacatacattGcccaagctttgtcgtctttt	7	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:51448575G>A	uc001wyx.4	-	7	2615	c.1850C>T	c.(1849-1851)gCa>gTa	p.A617V	TRIM9_uc001wyy.2_Missense_Mutation_p.A698V	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	617	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CACATACATTGCCCAAGCTTT	0.517													A	51448575	G	A	51448575	3	1	4	1	0	0	0	0	1	0	0	0	16546	1319	46	2	294	2	TRIM9	14	51448575	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	189112	51448575	55900965	3215	5280											
TRIM9	114088	broad.mit.edu	37	chr14	51560869	51560869	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacatggcccccagagccttGacttcgtggctggagtgttt	12	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:51560869G>A	uc001wyx.4	-	0	1554	c.789C>T	c.(787-789)gtC>gtT	p.V263V	TRIM9_uc001wyy.2_Silent_p.V263V|TRIM9_uc001wyz.4_Silent_p.V263V	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	263					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	p.E262K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CCAGAGCCTTGACTTCGTGGC	0.552													A	51560869	G	A	51560869	2	1	4	1	0	0	0	0	0	0	0	1	16546	1277	45	4		4	TRIM9	14	51560869	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	112294	51560869	55788671	3216	5281											
TRIM9	114088	broad.mit.edu	37	chr14	51561103	51561103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatcgcagtagaagacatcGcactgttcgcacatgacggt	12	10	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:51561103G>A	uc001wyx.4	-	0	1320	c.555C>T	c.(553-555)tgC>tgT	p.C185C	TRIM9_uc001wyy.2_Silent_p.C185C|TRIM9_uc001wyz.4_Silent_p.C185C	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	185					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					AGAAGACATCGCACTGTTCGC	0.677													A	51561103	G	A	51561103	2	1	4	1	0	0	0	0	0	0	0	1	16546	1079	38	1		1	TRIM9	14	51561103	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	234	51561103	55788437	3217	5282											
FRMD6	122786	broad.mit.edu	37	chr14	52169261	52169261	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atttgggcctcctatgatcaTccacttccgtgtgcagtact	8	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:52169261T>A	uc001wzd.3	+	4	611	c.326T>A	c.(325-327)aTc>aAc	p.I109N	FRMD6_uc001wzb.3_Missense_Mutation_p.I101N|FRMD6_uc001wzc.3_Missense_Mutation_p.I101N|FRMD6_uc001wze.3_Missense_Mutation_p.I32N	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	Homo sapiens FERM domain containing 6 (FRMD6), transcript variant 2, mRNA.	109	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CCTATGATCATCCACTTCCGT	0.408													A	52169261	T	A	52169261	3	1	4	1	0	0	0	0	1	0	0	0	6054	1435	50	5	316	5	FRMD6	14	52169261	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	608158	52169261	55180279	3218	5283											
NID2	22795	broad.mit.edu	37	chr14	52477679	52477679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagagccatccagcagggCgctctctatcttatccagga	9	14	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:52477679C>T	uc001wzo.3	-	17	3871	c.3637G>A	c.(3637-3639)Gcc>Acc	p.A1213T	NID2_uc010tqs.2_Missense_Mutation_p.A1165T|NID2_uc010tqt.1_Missense_Mutation_p.A1213T	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	1213						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCCAGCAGGGCGCTCTCTATC	0.542													T	52477679	C	T	52477679	3	4	4	1	0	0	0	0	1	0	0	0	10415	768	27	1	510	1	NID2	14	52477679	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	308418	52477679	54871861	3219	5284											
TXNDC16	57544	broad.mit.edu	37	chr14	52981604	52981604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttttatacatacccaataCtttccaaaagggcaatttct	3	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:52981604C>T	uc001wzs.3	-	7	1048	c.599G>A	c.(598-600)aGt>aAt	p.S200N	TXNDC16_uc010tqu.2_Missense_Mutation_p.S195N|TXNDC16_uc010aoe.3_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	200					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ATACCCAATACTTTCCAAAAG	0.358													T	52981604	C	T	52981604	3	4	4	1	0	0	0	0	1	0	0	0	16792	565	20	4	1934	4	TXNDC16	14	52981604	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	503925	52981604	54367936	3220	5285											
DDHD1	80821	broad.mit.edu	37	chr14	53525293	53525293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcctgggcggatgccacGcaacgccaagaaaactgcta	10	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:53525293G>A	uc001xai.3	-	8	2124	c.1894C>T	c.(1894-1896)Cgt>Tgt	p.R632C	DDHD1_uc001xaj.3_Missense_Mutation_p.R639C|DDHD1_uc001xah.3_Missense_Mutation_p.R632C|DDHD1_uc001xag.3_Missense_Mutation_p.R214C|DDHD1_uc001xak.1_Missense_Mutation_p.R28C	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	632	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CGGATGCCACGCAACGCCAAG	0.383													A	53525293	G	A	53525293	3	1	4	1	0	0	0	0	1	0	0	0	4326	1087	38	1	828	1	DDHD1	14	53525293	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	543689	53525293	53824247	3221	5286											
SAMD4A	23034	broad.mit.edu	37	chr14	55251329	55251329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcagtatgaccgaacacGccctgggaggtgagtgtgtt	14	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:55251329G>A	uc001xbb.3	+	10	2424	c.2116G>A	c.(2116-2118)Gcc>Acc	p.A706T	SAMD4A_uc001xbc.3_Missense_Mutation_p.A619T|SAMD4A_uc001xbg.2_Missense_Mutation_p.A334T	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA.	707					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	p.H705H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GACCGAACACGCCCTGGGAGG	0.557													A	55251329	G	A	55251329	3	1	4	1	0	0	0	0	1	0	0	0	13821	1087	38	1	2270	1	SAMD4A	14	55251329	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1726036	55251329	52098211	3222	5287											
WDHD1	11169	broad.mit.edu	37	chr14	55433239	55433239	+	Frame_Shift_Del	DEL	T	T	-													gttgctcttttgttgcttgaTttttagtgctctcttcatat							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:55433238_55433238AT>A	uc001xbm.2	-	17	2355	c.2265_2265AT>T	c.(2263-2265)aatfs	p.N755fs	WDHD1_uc010aom.2_Frame_Shift_Del_p.N272fs|WDHD1_uc001xbn.2_Frame_Shift_Del_p.N632fs	NM_007086	NP_009017	O75717	WDHD1_HUMAN	Homo sapiens WD repeat and HMG-box DNA binding protein 1 (WDHD1), transcript variant 1, mRNA.	755						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TTGTTGCTTGATTTTTAGTGC	0.303													-	55433239	T	-	55433239	7	5	4	1	0	1	0	1	0	0	0	0	17268	1493	52	0	1161	0	WDHD1	14	55433239	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	181910	55433239	51916301	3223	5288											
TBPL2	387332	broad.mit.edu	37	chr14	55903506	55903506	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctactttgtggactttgGctttcagaattttcttcagt	7	8	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:55903506G>A	uc001xby.3	-	1	381	c.381C>T	c.(379-381)agC>agT	p.S127S		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA.	127					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						GTGGACTTTGGCTTTCAGAAT	0.463													A	55903506	G	A	55903506	2	1	4	1	0	0	0	0	0	0	0	1	15643	1194	42	2		2	TBPL2	14	55903506	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	470267	55903506	51446034	3224	5289											
C14orf101	54916	broad.mit.edu	37	chr14	57085368	57085368	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgtcctcgctggcattggTttggctgcagttgtgtctga	14	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:57085368T>C	uc001xcm.3	+	9	1235	c.1113T>C	c.(1111-1113)ggT>ggC	p.G371G	C14orf101_uc001xcj.3_Non-coding_Transcript|C14orf101_uc001xcl.1_Non-coding_Transcript|C14orf101_uc001xcn.3_Non-coding_Transcript|C14orf101_uc010trf.2_5'UTR|C14orf101_uc001xco.3_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	Homo sapiens chromosome 14 open reading frame 101 (C14orf101), mRNA.	371						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(311;0.226)		CTGGCATTGGTTTGGCTGCAG	0.468													C	57085368	T	C	57085368	2	2	4	1	0	0	0	0	0	0	0	1	1734	1712	60	3		3	C14orf101	14	57085368	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1181862	57085368	50264172	3225	5290											
KIAA0586	9786	broad.mit.edu	37	chr14	58934588	58934588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaaagaaacctaacatagCcattgtagaaatgaagtcag	8	6	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:58934588C>T	uc010trr.2	+	17	2793	c.2549C>T	c.(2548-2550)gCc>gTc	p.A850V	KIAA0586_uc001xdu.4_Missense_Mutation_p.A782V|KIAA0586_uc010trs.2_Missense_Mutation_p.A712V|KIAA0586_uc001xdt.4_Missense_Mutation_p.A753V|KIAA0586_uc001xdv.4_Missense_Mutation_p.A721V|KIAA0586_uc010trt.2_Missense_Mutation_p.A657V|KIAA0586_uc010tru.1_Missense_Mutation_p.A657V	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	721										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCTAACATAGCCATTGTAGAA	0.398													T	58934588	C	T	58934588	3	4	4	1	0	0	0	0	1	0	0	0	8186	739	26	2	2220	2	KIAA0586	14	58934588	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1849220	58934588	48414952	3226	5291											
PPM1A	5494	broad.mit.edu	37	chr14	60749747	60749747	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaggttttctggagattgAtgaacacatgagagttatgt	11	4	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:60749747A>G	uc001xew.4	+	1	641	c.545A>G	c.(544-546)gAt>gGt	p.D182G	PPM1A_uc010apn.3_Missense_Mutation_p.D109G|PPM1A_uc001xex.4_Missense_Mutation_p.D109G|PPM1A_uc001xey.4_Missense_Mutation_p.D109G	NM_177952	NP_808821	P35813	PPM1A_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1A (PPM1A), transcript variant 3, mRNA.	109					Wnt receptor signaling pathway|cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein dephosphorylation	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		CTGGAGATTGATGAACACATG	0.393													G	60749747	A	G	60749747	3	3	4	1	0	0	0	0	1	0	0	0	12335	333	12	3	551	3	PPM1A	14	60749747	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1815159	60749747	46599793	3227	5292											
PPM1A	5494	broad.mit.edu	37	chr14	60756574	60756574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgacttagtccatgtgatgCgcacattagcgagtgagaac	11	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:60756574C>T	uc001xew.4	+	3	1318	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	PPM1A_uc010apn.3_Missense_Mutation_p.R335C|PPM1A_uc001xey.4_Missense_Mutation_p.R335C	NM_177952	NP_808821	P35813	PPM1A_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1A (PPM1A), transcript variant 3, mRNA.	335					Wnt receptor signaling pathway|cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein dephosphorylation	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		CCATGTGATGCGCACATTAGC	0.433													T	60756574	C	T	60756574	3	4	4	1	0	0	0	0	1	0	0	0	12335	768	27	1	1259	1	PPM1A	14	60756574	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	6827	60756574	46592966	3228	5293											
PRKCH	5583	broad.mit.edu	37	chr14	61997194	61997194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgttgctctatgagatgCtctgtggtcacgcgcctttt	12	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:61997194C>T	uc001xfn.3	+	11	1947	c.1642C>T	c.(1642-1644)Ctc>Ttc	p.L548F	PRKCH_uc010tsa.2_Missense_Mutation_p.L387F|PRKCH_uc010tsb.2_Missense_Mutation_p.L116F	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	548	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CTATGAGATGCTCTGTGGTCA	0.547													T	61997194	C	T	61997194	3	4	4	1	0	0	0	0	1	0	0	0	12513	797	28	2	1688	2	PRKCH	14	61997194	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1240620	61997194	45352346	3229	5294											
PPP2R5E	5529	broad.mit.edu	37	chr14	63856359	63856359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctagatacacacttggCgatttgtttaaacaaaggtt	11	6	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:63856359C>T	uc001xgd.1	-	10	1635	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T	PPP2R5E_uc010tsf.1_Missense_Mutation_p.A273T|PPP2R5E_uc010tsg.1_Missense_Mutation_p.A273T|PPP2R5E_uc010tsh.1_Missense_Mutation_p.A349T|PPP2R5E_uc001xge.2_Missense_Mutation_p.A349T|PPP2R5E_uc001xgf.1_Non-coding_Transcript	NM_006246	NP_006237	Q16537	2A5E_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform (PPP2R5E), mRNA.	349					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		ACACACTTGGCGATTTGTTTA	0.368													T	63856359	C	T	63856359	3	4	4	1	0	0	0	0	1	0	0	0	12396	768	27	1	374	1	PPP2R5E	14	63856359	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1859165	63856359	43493181	3230	5295											
SYNE2	23224	broad.mit.edu	37	chr14	64447796	64447796	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tatataatgtgaagtccactCtacaaaaagtgctggcatgt	8	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:64447796C>G	uc001xgl.3	+	15	1971	c.1741C>G	c.(1741-1743)Cta>Gta	p.L581V	SYNE2_uc001xgm.3_Missense_Mutation_p.L581V|SYNE2_uc021ruh.1_Missense_Mutation_p.L581V	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	581					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAGTCCACTCTACAAAAAGT	0.338													G	64447796	C	G	64447796	3	3	4	1	0	0	0	0	1	0	0	0	15443	912	32	5	1799	5	SYNE2	14	64447796	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	591437	64447796	42901744	3231	5296											
SYNE2	23224	broad.mit.edu	37	chr14	64519034	64519034	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccttacaacctatgagggCagtgatttaaataataccct	7	9	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:64519034C>T	uc001xgl.3	+	47	8633	c.8403C>T	c.(8401-8403)ggC>ggT	p.G2801G	SYNE2_uc001xgm.3_Silent_p.G2801G|SYNE2_uc021ruh.1_Silent_p.G2834G	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2801			G -> S (in dbSNP:rs1890908).		centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCTATGAGGGCAGTGATTTAA	0.403													T	64519034	C	T	64519034	2	4	4	1	0	0	0	0	0	0	0	1	15443	697	25	2		2	SYNE2	14	64519034	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	71238	64519034	42830506	3232	5297											
SYNE2	23224	broad.mit.edu	37	chr14	64519480	64519480	+	Frame_Shift_Del	DEL	A	A	-													gttttgcagacaattccatgAaaaaacatcagcgcttcagg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:64519479_64519479GA>G	uc001xgl.3	+	47	9078	c.8848_8848GA>G	c.(8848-8850)gaafs	p.E2950fs	SYNE2_uc001xgm.3_Frame_Shift_Del_p.E2950fs|SYNE2_uc021ruh.1_Frame_Shift_Del_p.E2983fs	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2950					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACAATTCCATGAAAAAACATC	0.338													-	64519480	A	-	64519480	7	5	4	1	0	1	0	1	0	0	0	0	15443	246	9	0	9035	0	SYNE2	14	64519480	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	446	64519480	42830060	3233	5298											
SYNE2	23224	broad.mit.edu	37	chr14	64519888	64519888	+	Frame_Shift_Del	DEL	T	T	-													cagacggctcaatgcccaaaTtttaagtcagagaattgaga							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:64519887_64519887AT>A	uc001xgl.3	+	47	9486	c.9256_9256AT>A	c.(9256-9258)attfs	p.I3086fs	SYNE2_uc001xgm.3_Frame_Shift_Del_p.I3086fs|SYNE2_uc021ruh.1_Frame_Shift_Del_p.I3119fs|SYNE2_uc010apw.1_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	3086					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAATGCCCAAATTTTAAGTCA	0.338													-	64519888	T	-	64519888	7	5	4	1	0	1	0	1	0	0	0	0	15443	1493	52	0	9443	0	SYNE2	14	64519888	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	408	64519888	42829652	3234	5299											
SYNE2	23224	broad.mit.edu	37	chr14	64542723	64542723	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatattatggaaaaactgCgaatcaagtattccgaaatg	8	5	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:64542723C>T	uc001xgl.3	+	53	11157	c.10927C>T	c.(10927-10929)Cga>Tga	p.R3643*	SYNE2_uc001xgm.3_Nonsense_Mutation_p.R3643*|SYNE2_uc021ruh.1_Nonsense_Mutation_p.R3676*|SYNE2_uc010apy.3_Nonsense_Mutation_p.R5*|SYNE2_uc010apw.1_Nonsense_Mutation_p.R349*|SYNE2_uc010apx.1_Nonsense_Mutation_p.R35*	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	3643					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGAAAAACTGCGAATCAAGTA	0.388													T	64542723	C	T	64542723	4	4	4	1	0	0	0	0	0	1	0	0	15443	760	27	1	11137	1	SYNE2	14	64542723	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	22835	64542723	42806817	3235	5300											
SYNE2	23224	broad.mit.edu	37	chr14	64634076	64634081	+	In_Frame_Del	DEL	GGCCAC	GGCCAC	-													atgaaccggcaatggattcgGgccacggccacggcactgga					rs143231145	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:64634075_64634080GGGCCAC>G	uc001xgl.3	+	90	16960_16965	c.16730_16735GGGCCAC>G	c.(16729-16737)cgggccacg>cGcg	p.AT5580del	SYNE2_uc001xgm.3_In_Frame_Del_p.AT5580del|SYNE2_uc010apy.3_In_Frame_Del_p.AT1965del|SYNE2_uc001xgn.3_In_Frame_Del_p.AT542del|SYNE2_uc021rui.1_In_Frame_Del_p.AT500del|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_5'UTR|SYNE2_uc001xgq.3_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5580					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAATGGATTCGGGCCACGGCCACGGC	0.466													-	64634081	GGCCAC	-	64634076	7	5	4	1	0	1	0	1	0	0	0	0	15443	1219	43	0	17089	0	SYNE2	14	64634076	In_Frame_Del	DEL	GGCCAC	TCGA-BR-4184-01A-01D-1126-08	91353	64634076	42715464	3236	5301											
SYNE2	23224	broad.mit.edu	37	chr14	64676162	64676162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaatcgaggagacgtggCgcctgtggcagaagttttta	14	7	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:64676162C>T	uc001xgl.3	+	101	18636	c.18406C>T	c.(18406-18408)Cgc>Tgc	p.R6136C	SYNE2_uc001xgm.3_Missense_Mutation_p.R6136C|SYNE2_uc010apy.3_Missense_Mutation_p.R2521C|SYNE2_uc001xgn.3_Missense_Mutation_p.R1098C|SYNE2_uc021rui.1_Missense_Mutation_p.R1143C|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.R106C|SYNE2_uc001xgq.3_Missense_Mutation_p.R501C|SYNE2_uc001xgr.3_5'UTR	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6136					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGAGACGTGGCGCCTGTGGCA	0.527													T	64676162	C	T	64676162	3	4	4	1	0	0	0	0	1	0	0	0	15443	768	27	1	18808	1	SYNE2	14	64676162	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	42086	64676162	42673378	3237	5302											
SYNE2	23224	broad.mit.edu	37	chr14	64678805	64678805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacgccgatgacaagatgCgccaactgaatgtgagggct	14	9	0	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:64678805C>T	uc001xgl.3	+	103	19080	c.18850C>T	c.(18850-18852)Cgc>Tgc	p.R6284C	SYNE2_uc001xgm.3_Missense_Mutation_p.R6284C|SYNE2_uc010apy.3_Missense_Mutation_p.R2669C|SYNE2_uc001xgn.3_Missense_Mutation_p.R1246C|SYNE2_uc021rui.1_Missense_Mutation_p.R1288C|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.R254C|SYNE2_uc001xgq.3_Missense_Mutation_p.R649C|SYNE2_uc001xgr.3_Missense_Mutation_p.R67C|SYNE2_uc010tsi.2_5'Flank|SYNE2_uc001xgs.3_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6284					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGACAAGATGCGCCAACTGAA	0.542													T	64678805	C	T	64678805	3	4	4	1	0	0	0	0	1	0	0	0	15443	768	27	1	19260	1	SYNE2	14	64678805	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2643	64678805	42670735	3238	5303											
HSPA2	3306	broad.mit.edu	37	chr14	65008477	65008477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacgtccatcacgcgcgccCgcttcgaggagctcaatgcc	10	16	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:65008477C>T	uc001xhj.3	+	1	986	c.910C>T	c.(910-912)Cgc>Tgc	p.R304C	HSPA2_uc001xhk.4_Missense_Mutation_p.R304C	NM_021979	NP_068814	P54652	HSP72_HUMAN	Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA.	304					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CACGCGCGCCCGCTTCGAGGA	0.657													T	65008477	C	T	65008477	3	4	4	1	0	0	0	0	1	0	0	0	7411	652	23	1	912	1	HSPA2	14	65008477	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	329672	65008477	42341063	3239	5304											
GPHN	10243	broad.mit.edu	37	chr14	67389441	67389441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgaccttttacgtgatgCcattgtaaaagtaaaggagg	10	6	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:67389441C>T	uc001xiy.3	+	6	1636	c.515C>T	c.(514-516)gCc>gTc	p.A172V	GPHN_uc001xiw.3_Missense_Mutation_p.A154V|GPHN_uc001xix.3_Missense_Mutation_p.A172V|GPHN_uc010tss.2_Missense_Mutation_p.A185V|GPHN_uc010tst.2_Missense_Mutation_p.A141V|GPHN_uc010tsu.2_Missense_Mutation_p.A62V	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	172	Interaction with GABARAP (By similarity).				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TTACGTGATGCCATTGTAAAA	0.433			T	MLL	AL								T	67389441	C	T	67389441	3	4	4	1	0	0	0	0	1	0	0	0	6610	739	26	2	541	2	GPHN	14	67389441	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2380964	67389441	39960099	3240	5305											
FAM71D	161142	broad.mit.edu	37	chr14	67671596	67671596	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcagggacagcatagatttCccagaattcacagacatcac	8	11	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:67671596C>T	uc001xja.2	+	4	992	c.702C>T	c.(700-702)ttC>ttT	p.F234F	FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	234										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		GCATAGATTTCCCAGAATTCA	0.498													T	67671596	C	T	67671596	2	4	4	1	0	0	0	0	0	0	0	1	5610	854	30	4		4	FAM71D	14	67671596	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	282155	67671596	39677944	3241	5306											
VTI1B	10490	broad.mit.edu	37	chr14	68123210	68123210	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgagccaatctggtcagtctCtgtggcaatccgatgagaac	11	10	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:68123210C>A	uc001xjt.3	-	3	859	c.463G>T	c.(463-465)Gag>Tag	p.E155*	VTI1B_uc010aqp.3_Nonsense_Mutation_p.E94*|VTI1B_uc001xju.3_Nonsense_Mutation_p.E114*	NM_006370	NP_006361	Q9UEU0	VTI1B_HUMAN	Homo sapiens vesicle transport through interaction with t-SNAREs homolog 1B (yeast) (VTI1B), mRNA.	155					cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane				endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		TGGTCAGTCTCTGTGGCAATC	0.502													A	68123210	C	A	68123210	4	1	4	1	0	0	0	0	0	1	0	0	17233	922	32	5	247	5	VTI1B	14	68123210	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	451614	68123210	39226330	3242	5307											
DCAF5	8816	broad.mit.edu	37	chr14	69521638	69521638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggttgtcttctgtcggcGccgcatggcattccgctgcc	13	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:69521638G>A	uc001xkp.3	-	8	1984	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C	DCAF5_uc001xkq.3_Missense_Mutation_p.R588C	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.	589						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TTCTGTCGGCGCCGCATGGCA	0.542													A	69521638	G	A	69521638	3	1	4	1	0	0	0	0	1	0	0	0	4273	1087	38	1	1067	1	DCAF5	14	69521638	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1398428	69521638	37827902	3243	5308											
GALNTL1	57452	broad.mit.edu	37	chr14	69791495	69791495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgttccaccctgctgcGcacagtgaagaggtaagtcc	12	14	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:69791495G>A	uc001xlb.2	+	2	749	c.422G>A	c.(421-423)cGc>cAc	p.R141H	GALNTL1_uc001xla.2_Missense_Mutation_p.R141H|GALNTL1_uc010aqu.2_Missense_Mutation_p.R141H	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	141	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		ACCCTGCTGCGCACAGTGAAG	0.602													A	69791495	G	A	69791495	3	1	4	1	0	0	0	0	1	0	0	0	6221	1087	38	1	432	1	GALNTL1	14	69791495	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	269857	69791495	37558045	3244	5309											
GALNTL1	57452	broad.mit.edu	37	chr14	69795264	69795264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaacaccgagtggctgccGcccatgctgcagcgggtgaa	15	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:69795264G>A	uc001xlb.2	+	5	993	c.666G>A	c.(664-666)ccG>ccA	p.P222P	GALNTL1_uc001xla.2_Silent_p.P222P|GALNTL1_uc010aqu.2_Silent_p.P222P	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	222	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		AGTGGCTGCCGCCCATGCTGC	0.642													A	69795264	G	A	69795264	2	1	4	1	0	0	0	0	0	0	0	1	6221	1074	38	1		1	GALNTL1	14	69795264	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3769	69795264	37554276	3245	5310											
SLC39A9	55334	broad.mit.edu	37	chr14	69908873	69908873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccatgaacatgagcacaGccacgaccacacacagctgc	8	15	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:69908873G>A	uc001xle.3	+	2	995	c.293G>A	c.(292-294)aGc>aAc	p.S98N	SLC39A9_uc021rvg.1_5'UTR|SLC39A9_uc021rvh.1_5'UTR|SLC39A9_uc001xlf.4_Missense_Mutation_p.S98N|SLC39A9_uc010aqx.3_Missense_Mutation_p.S98N|SLC39A9_uc001xlg.4_Non-coding_Transcript	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 9 (SLC39A9), transcript variant 1, mRNA.	98					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		CATGAGCACAGCCACGACCAC	0.458													A	69908873	G	A	69908873	3	1	4	1	0	0	0	0	1	0	0	0	14625	971	34	2	303	2	SLC39A9	14	69908873	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	113609	69908873	37440667	3246	5311											
SLC39A9	55334	broad.mit.edu	37	chr14	69925158	69925158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggacatttctttatgttGccacagtacatgtcctccct	7	13	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:69925158G>A	uc001xle.3	+	6	1474	c.772G>A	c.(772-774)Gcc>Acc	p.A258T	SLC39A9_uc021rvg.1_Missense_Mutation_p.A140T|SLC39A9_uc021rvh.1_Missense_Mutation_p.A140T|SLC39A9_uc001xlf.4_Intron|SLC39A9_uc010aqx.3_Missense_Mutation_p.A235T|SLC39A9_uc001xlg.4_Non-coding_Transcript|SLC39A9_uc021rvi.1_5'Flank	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 9 (SLC39A9), transcript variant 1, mRNA.	258					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		TCTTTATGTTGCCACAGTACA	0.567													A	69925158	G	A	69925158	3	1	4	1	0	0	0	0	1	0	0	0	14625	1319	46	2	798	2	SLC39A9	14	69925158	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	16285	69925158	37424382	3247	5312											
KIAA0247	9766	broad.mit.edu	37	chr14	70171413	70171413	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcattctcctcctcgtggtgCtgtttgtgctgctgcagcca	10	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:70171413C>A	uc001xlk.3	+	3	728	c.412C>A	c.(412-414)Ctg>Atg	p.L138M	KIAA0247_uc010aqz.3_Missense_Mutation_p.L113M	NM_014734	NP_055549	Q92537	K0247_HUMAN	Homo sapiens KIAA0247 (KIAA0247), mRNA.	138						integral to membrane				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		CCTCGTGGTGCTGTTTGTGCT	0.527													A	70171413	C	A	70171413	3	1	4	1	0	0	0	0	1	0	0	0	8165	796	28	5	422	5	KIAA0247	14	70171413	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	246255	70171413	37178127	3248	5313											
SMOC1	64093	broad.mit.edu	37	chr14	70496965	70496965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccttctctcagtaggacGcctcgtctaaggagcagaaa	9	12	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:70496965G>A	uc001xlt.2	+	11	1580	c.1298G>A	c.(1297-1299)cGc>cAc	p.R433H	SMOC1_uc001xls.2_Missense_Mutation_p.R432H	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	432					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		TCAGTAGGACGCCTCGTCTAA	0.507													A	70496965	G	A	70496965	3	1	4	1	0	0	0	0	1	0	0	0	14801	1087	38	1	1344	1	SMOC1	14	70496965	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	325552	70496965	36852575	3249	5314											
SLC8A3	6547	broad.mit.edu	37	chr14	70634125	70634125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaagagcatagtaattggCcatctccaccagctgatcta	9	10	2	2	rs138512128	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:70634125C>T	uc001xly.3	-	1	1769	c.1015G>A	c.(1015-1017)Gcc>Acc	p.A339T	SLC8A3_uc001xlw.3_Missense_Mutation_p.A339T|SLC8A3_uc001xlx.3_Missense_Mutation_p.A339T|SLC8A3_uc001xlz.3_Missense_Mutation_p.A339T|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	339					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TAGTAATTGGCCATCTCCACC	0.493													T	70634125	C	T	70634125	3	4	4	1	0	0	0	0	1	0	0	0	14708	739	26	2	1907	2	SLC8A3	14	70634125	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	137160	70634125	36715415	3250	5315											
ADAM21	8747	broad.mit.edu	37	chr14	70925992	70925992	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgtcacctgctggggTattgactatcatttaaggat	11	6	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:70925992T>C	uc021rvq.1	+	0	1776	c.1776T>C	c.(1774-1776)ggT>ggC	p.G592G	ADAM21_uc001xmd.3_Silent_p.G592G	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	592	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCTGCTGGGGTATTGACTATC	0.418													C	70925992	T	C	70925992	2	2	4	1	0	0	0	0	0	0	0	1	243	1625	57	3		3	ADAM21	14	70925992	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	291867	70925992	36423548	3251	5316											
MAP3K9	4293	broad.mit.edu	37	chr14	71199485	71199485	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggactcaggggaggggcctcGactgggctgactggcatctc	17	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:71199485G>A	uc001xmm.3	-	10	2601	c.2601C>T	c.(2599-2601)gtC>gtT	p.V867V	MAP3K9_uc010ttk.2_Silent_p.V595V|MAP3K9_uc001xmk.3_Silent_p.V600V|MAP3K9_uc001xml.3_Silent_p.V881V	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	867	Pro-rich.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAGGGGCCTCGACTGGGCTGA	0.577													A	71199485	G	A	71199485	2	1	4	1	0	0	0	0	0	0	0	1	9257	1045	37	1		1	MAP3K9	14	71199485	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	273493	71199485	36150055	3252	5317											
SIPA1L1	26037	broad.mit.edu	37	chr14	72137841	72137841	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctttgtctctcagtgtggCtgttaccaggtccagagatg	11	9	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:72137841C>A	uc001xms.3	+	7	2622	c.2261C>A	c.(2260-2262)gCt>gAt	p.A754D	SIPA1L1_uc001xmt.3_Missense_Mutation_p.A754D|SIPA1L1_uc001xmu.3_Missense_Mutation_p.A754D|SIPA1L1_uc001xmv.3_Missense_Mutation_p.A754D|SIPA1L1_uc010ttm.2_Missense_Mutation_p.A229D	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	754	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCAGTGTGGCTGTTACCAGG	0.438													A	72137841	C	A	72137841	3	1	4	1	0	0	0	0	1	0	0	0	14329	797	28	5	2287	5	SIPA1L1	14	72137841	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	938356	72137841	35211699	3253	5318											
SIPA1L1	26037	broad.mit.edu	37	chr14	72190523	72190523	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggagtttttaccctcgccaGggcgctactagcaagtacct	10	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:72190523G>T	uc001xms.3	+	15	4792	c.4431G>T	c.(4429-4431)caG>caT	p.Q1477H	SIPA1L1_uc001xmt.3_Missense_Mutation_p.Q1456H|SIPA1L1_uc001xmu.3_Missense_Mutation_p.Q1456H|SIPA1L1_uc001xmv.3_Missense_Mutation_p.Q1477H|SIPA1L1_uc010ttm.2_Missense_Mutation_p.Q931H	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1477	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACCCTCGCCAGGGCGCTACTA	0.507													T	72190523	G	T	72190523	3	4	4	1	0	0	0	0	1	0	0	0	14329	991	35	5	4489	5	SIPA1L1	14	72190523	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	52682	72190523	35159017	3254	5319											
SIPA1L1	26037	broad.mit.edu	37	chr14	72191399	72191399	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtccaggcgtcatcagagCgatggcaatgaaatagccca	11	10	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:72191399C>T	uc001xms.3	+	16	4885	c.4524C>T	c.(4522-4524)agC>agT	p.S1508S	SIPA1L1_uc001xmt.3_Silent_p.S1487S|SIPA1L1_uc001xmu.3_Silent_p.S1487S|SIPA1L1_uc001xmv.3_Silent_p.S1508S|SIPA1L1_uc010ttm.2_Silent_p.S962S	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1508					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTCATCAGAGCGATGGCAATG	0.493													T	72191399	C	T	72191399	2	4	4	1	0	0	0	0	0	0	0	1	14329	767	27	1		1	SIPA1L1	14	72191399	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	876	72191399	35158141	3255	5320											
DPF3	8110	broad.mit.edu	37	chr14	73140989	73140989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacaccagctcttcaggcCgcccactcttcttgttcatg	8	15	5	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:73140989C>T	uc001xnc.2	-	7	843	c.830G>A	c.(829-831)cGg>cAg	p.R277Q	DPF3_uc001xnd.1_Non-coding_Transcript|DPF3_uc001xnf.2_Non-coding_Transcript|DPF3_uc010ari.1_Missense_Mutation_p.R277Q|DPF3_uc010ttq.1_Missense_Mutation_p.R287Q	NM_012074	NP_036206	Q92784	DPF3_HUMAN	Homo sapiens D4, zinc and double PHD fingers, family 3 (DPF3), mRNA.	277					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTCTTCAGGCCGCCCACTCTT	0.567													T	73140989	C	T	73140989	3	4	4	1	0	0	0	0	1	0	0	0	4718	652	23	1	251	1	DPF3	14	73140989	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	949590	73140989	34208551	3256	5321											
DPF3	8110	broad.mit.edu	37	chr14	73159844	73159844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctggtcttgagcttcatCcccctcctcgctggccaggt	9	17	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:73159844C>T	uc001xnc.2	-	6	695	c.682G>A	c.(682-684)Gat>Aat	p.D228N	DPF3_uc001xnd.1_Non-coding_Transcript|DPF3_uc001xnf.2_Non-coding_Transcript|DPF3_uc010ari.1_Missense_Mutation_p.D228N|DPF3_uc010ttq.1_Missense_Mutation_p.D238N	NM_012074	NP_036206	Q92784	DPF3_HUMAN	Homo sapiens D4, zinc and double PHD fingers, family 3 (DPF3), mRNA.	228					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGAGCTTCATCCCCCTCCTCG	0.552													T	73159844	C	T	73159844	3	4	4	1	0	0	0	0	1	0	0	0	4718	855	30	4	403	4	DPF3	14	73159844	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	18855	73159844	34189696	3257	5322											
HEATR4	399671	broad.mit.edu	37	chr14	73989372	73989372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggatgatggatgagagggCggggtgcttcccggacggtg	21	6	0	2	rs142623987		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:73989372C>T	uc021rwe.1	-	2	833	c.485G>A	c.(484-486)cGc>cAc	p.R162H	HEATR4_uc021rwf.1_Missense_Mutation_p.R115H|HEATR4_uc010tub.1_Missense_Mutation_p.R162H	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GATGAGAGGGCGGGGTGCTTC	0.557													T	73989372	C	T	73989372	3	4	4	1	0	0	0	0	1	0	0	0	7030	768	27	1	2659	1	HEATR4	14	73989372	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	829528	73989372	33360168	3258	5323											
C14orf43	91748	broad.mit.edu	37	chr14	74186094	74186094	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttctctgaaaaaggTagtgcccttcgtgacttccc	7	12	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:74186094T>C	uc010tud.1	-	10	3295	c.3048A>G	c.(3046-3048)ctA>ctG	p.L1016L	C14orf43_uc001xos.3_Silent_p.L281L|C14orf43_uc001xot.3_Silent_p.L1016L|C14orf43_uc001xou.3_Silent_p.L1016L|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	1016					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		CTGAAAAAGGTAGTGCCCTTC	0.542													C	74186094	T	C	74186094	2	2	4	1	0	0	0	0	0	0	0	1	1774	1625	57	3		3	C14orf43	14	74186094	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	196722	74186094	33163446	3259	5324											
C14orf43	91748	broad.mit.edu	37	chr14	74206606	74206607	+	Frame_Shift_Ins	INS	-	-	G													ttcactctgatggactgctgINSggggggctgcaggggagggg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:74206605_74206606T>TG	uc010tud.1	-	0	353_354	c.106_107A>CA	c.(106-108)cagfs	p.Q36fs	C14orf43_uc001xot.3_Frame_Shift_Ins_p.Q36fs|C14orf43_uc001xou.3_Frame_Shift_Ins_p.Q36fs|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GATGGACTGCTGGGGGGGCTGC	0.668													G	74206607	-	G	74206606	7	5	4	1	0	1	1	0	0	0	0	0	1774	1357	47	0	3075	0	C14orf43	14	74206606	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	20512	74206606	33142934	3260	5325											
FAM161B	145483	broad.mit.edu	37	chr14	74407705	74407705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagagagggaagcaaggcCgctcagagaacgactccttg	15	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:74407705C>T	uc001xpd.2	-	4	1712	c.1324G>A	c.(1324-1326)Ggc>Agc	p.G442S		NM_152445	NP_689658			Homo sapiens family with sequence similarity 161, member B (FAM161B), mRNA.											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GAAGCAAGGCCGCTCAGAGAA	0.547													T	74407705	C	T	74407705	3	4	4	1	0	0	0	0	1	0	0	0	5473	652	23	1	639	1	FAM161B	14	74407705	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	201099	74407705	32941835	3261	5326											
ABCD4	5826	broad.mit.edu	37	chr14	74763144	74763144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccacgtcctggctgatgCgctggtccctggagccaatg	13	14	0	1	rs150967109		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:74763144C>T	uc001xpr.2	-	4	586	c.434G>A	c.(433-435)cGc>cAc	p.R145H	ABCD4_uc001xps.2_5'UTR|ABCD4_uc010tur.2_Missense_Mutation_p.R58H|ABCD4_uc001xpu.2_5'UTR|ABCD4_uc001xpv.2_Non-coding_Transcript	NM_005050	NP_005041	O14678	ABCD4_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 4 (ABCD4), transcript variant 1, mRNA.	145	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CTGGCTGATGCGCTGGTCCCT	0.567													T	74763144	C	T	74763144	3	4	4	1	0	0	0	0	1	0	0	0	63	768	27	1	1446	1	ABCD4	14	74763144	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	355439	74763144	32586396	3262	5327											
YLPM1	56252	broad.mit.edu	37	chr14	75265781	75265781	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctcatgatggagataggCgaggcccttggtgggatgat	17	6	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:75265781C>T	uc001xqj.4	+	4	3905	c.3781C>T	c.(3781-3783)Cga>Tga	p.R1261*	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1066					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TGGAGATAGGCGAGGCCCTTG	0.488													T	75265781	C	T	75265781	4	4	4	1	0	0	0	0	0	1	0	0	17483	760	27	1	3799	1	YLPM1	14	75265781	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	502637	75265781	32083759	3263	5328											
MLH3	27030	broad.mit.edu	37	chr14	75516018	75516018	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaagttttcattgtcctgTttttcttggacgaaatttcc	6	8	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:75516018T>G	uc001xrd.1	-	1	557	c.341A>C	c.(340-342)aAc>aCc	p.N114T	MLH3_uc001xre.1_Missense_Mutation_p.N114T|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	114					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CATTGTCCTGTTTTTCTTGGA	0.448								Mismatch excision repair (MMR)					G	75516018	T	G	75516018	3	3	4	1	0	0	0	0	1	0	0	0	9618	1725	60	5	4068	5	MLH3	14	75516018	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	250237	75516018	31833522	3264	5329											
BATF	10538	broad.mit.edu	37	chr14	76012964	76012964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccgaggtggtgtacagcGcccacgcattccaccaacct	9	18	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:76012964G>A	uc001xrr.3	+	2	570	c.328G>A	c.(328-330)Gcc>Acc	p.A110T		NM_006399	NP_006390	Q16520	BATF_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like (BATF), mRNA.	110						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		GGTGTACAGCGCCCACGCATT	0.662													A	76012964	G	A	76012964	3	1	4	1	0	0	0	0	1	0	0	0	1325	1087	38	1	338	1	BATF	14	76012964	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	496946	76012964	31336576	3265	5330											
TTLL5	23093	broad.mit.edu	37	chr14	76135826	76135826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttggtattccatgccgacGctattcttacaaaggacaac	7	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:76135826G>A	uc010ask.2	+	2	417	c.142G>A	c.(142-144)Gct>Act	p.A48T	TTLL5_uc001xrw.2_Missense_Mutation_p.A48T|TTLL5_uc001xrx.3_Missense_Mutation_p.A48T|TTLL5_uc001xrv.3_Missense_Mutation_p.A48T	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	48					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCATGCCGACGCTATTCTTAC	0.453													A	76135826	G	A	76135826	3	1	4	1	0	0	0	0	1	0	0	0	16727	1087	38	1	148	1	TTLL5	14	76135826	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	122862	76135826	31213714	3266	5331											
TGFB3	7043	broad.mit.edu	37	chr14	76431997	76431997	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccattgggctgaaaggtgtGacatggacagtgaatgctga	14	6	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:76431997G>A	uc001xsc.2	-	3	1544	c.688C>T	c.(688-690)Cac>Tac	p.H230Y	TGFB3_uc001xsd.3_Missense_Mutation_p.H228Y	NM_003239	NP_003230	P10600	TGFB3_HUMAN	Homo sapiens transforming growth factor, beta 3 (TGFB3), mRNA.	230					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of DNA replication|negative regulation of cell proliferation|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of SMAD protein import into nucleus|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		TGAAAGGTGTGACATGGACAG	0.423													A	76431997	G	A	76431997	3	1	4	1	0	0	0	0	1	0	0	0	15816	1290	45	4	566	4	TGFB3	14	76431997	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	296171	76431997	30917543	3267	5332											
ANGEL1	23357	broad.mit.edu	37	chr14	77255579	77255579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggagccctgtcatggggCggtgacttccatcccgaagc	14	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:77255579C>T	uc001xsv.3	-	9	2118	c.2005G>A	c.(2005-2007)Gcc>Acc	p.A669T	AK125727_uc001xsu.1_5'Flank	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA.	669										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TGTCATGGGGCGGTGACTTCC	0.537													T	77255579	C	T	77255579	3	4	4	1	0	0	0	0	1	0	0	0	608	768	27	1	11	1	ANGEL1	14	77255579	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	823582	77255579	30093961	3268	5333											
POMT2	29954	broad.mit.edu	37	chr14	77745184	77745184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgagcaggacctggccGcctcctcgaagcaggacctg	13	16	0	0	rs150755807		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:77745184G>A	uc001xti.2	-	18	2121	c.1920C>T	c.(1918-1920)ggC>ggT	p.G640G	POMT2_uc001xth.1_Silent_p.G338G	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA.	640					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GGACCTGGCCGCCTCCTCGAA	0.602													A	77745184	G	A	77745184	2	1	4	1	0	0	0	0	0	0	0	1	12246	1074	38	1		1	POMT2	14	77745184	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	489605	77745184	29604356	3269	5334											
ALKBH1	8846	broad.mit.edu	37	chr14	78146264	78146264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagcctacggtcacccaacGcagtttctccagtaaacttc	7	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:78146264G>A	uc001xuc.1	-	3	514	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C		NM_006020	NP_006011	Q13686	ALKB1_HUMAN	Homo sapiens alkB, alkylation repair homolog 1 (E. coli) (ALKBH1), mRNA.	169					DNA dealkylation involved in DNA repair|DNA demethylation|RNA repair|oxidative demethylation	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GTCACCCAACGCAGTTTCTCC	0.398													A	78146264	G	A	78146264	3	1	4	1	0	0	0	0	1	0	0	0	526	1087	38	1	676	1	ALKBH1	14	78146264	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	401080	78146264	29203276	3270	5335											
ADCK1	57143	broad.mit.edu	37	chr14	78397931	78397931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctcaaccacgtgccgcGccagatgctgctcatcttga	8	16	4	2	rs112630340		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:78397931G>A	uc001xui.3	+	9	1376	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	ADCK1_uc001xuj.3_Missense_Mutation_p.R358H|ADCK1_uc001xul.3_Missense_Mutation_p.R133H	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	433	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CACGTGCCGCGCCAGATGCTG	0.592													A	78397931	G	A	78397931	3	1	4	1	0	0	0	0	1	0	0	0	288	1087	38	1	1311	1	ADCK1	14	78397931	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	251667	78397931	28951609	3271	5336											
TSHR	7253	broad.mit.edu	37	chr14	81422084	81422084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctgcccagggacctgggCggaatggggtgttcgtctcc	16	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:81422084C>T	uc001xvd.1	+	0	216	c.60C>T	c.(58-60)ggC>ggT	p.G20G	CEP128_uc001xva.1_Intron|TSHR_uc001xvb.1_Silent_p.G20G|TSHR_uc001xvc.3_Silent_p.G20G|TSHR_uc010tvs.2_Silent_p.G20G	NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	20					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GGGACCTGGGCGGAATGGGGT	0.602			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						T	81422084	C	T	81422084	2	4	4	1	0	0	0	0	0	0	0	1	16619	755	27	1		1	TSHR	14	81422084	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3024153	81422084	25927456	3272	5337											
SEL1L	6400	broad.mit.edu	37	chr14	81952724	81952724	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcactgcagcattgtaatcGccatctttatagctgttata	6	9	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:81952724G>A	uc010tvv.2	-	16	1824	c.1707C>T	c.(1705-1707)ggC>ggT	p.G569G		NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like (C. elegans) (SEL1L), transcript variant 1, mRNA.	569	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CATTGTAATCGCCATCTTTAT	0.438													A	81952724	G	A	81952724	2	1	4	1	0	0	0	0	0	0	0	1	14010	1074	38	1		1	SEL1L	14	81952724	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	530640	81952724	25396816	3273	5338											
FLRT2	23768	broad.mit.edu	37	chr14	86089506	86089506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgggcttgatcgggggcGcggtgatatttgtgctggtg	20	6	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:86089506G>A	uc021rxf.1	+	0	1648	c.1648G>A	c.(1648-1650)Gcg>Acg	p.A550T	FLRT2_uc001xvr.3_Missense_Mutation_p.A550T|FLRT2_uc010atd.3_Missense_Mutation_p.A550T	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	550					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.A550T(2)|p.A550S(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GATCGGGGGCGCGGTGATATT	0.587													A	86089506	G	A	86089506	3	1	4	1	0	0	0	0	1	0	0	0	5939	1087	38	1	1650	1	FLRT2	14	86089506	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4136782	86089506	21260034	3274	5339											
GALC	2581	broad.mit.edu	37	chr14	88401080	88401080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgccctgttaagtattagCgtgtggcttccacaagaaag	11	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:88401080C>T	uc001xvt.3	-	16	2161	c.2054G>A	c.(2053-2055)cGc>cAc	p.R685H	GALC_uc010tvw.1_Intron|GALC_uc010tvy.2_Missense_Mutation_p.R662H|GALC_uc010tvx.2_Missense_Mutation_p.R659H|GALC_uc010tvz.1_Intron	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	685					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	p.R685H(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TAAGTATTAGCGTGTGGCTTC	0.403													T	88401080	C	T	88401080	3	4	4	1	0	0	0	0	1	0	0	0	6201	768	27	1	7	1	GALC	14	88401080	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2311574	88401080	18948460	3275	5340											
GALC	2581	broad.mit.edu	37	chr14	88434718	88434718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataattctgatttaaaatgCgaccccagcagcctgcaccc	6	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:88434718C>T	uc001xvt.3	-	7	976	c.869G>A	c.(868-870)cGc>cAc	p.R290H	GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvy.2_Missense_Mutation_p.R267H|GALC_uc010tvx.2_Missense_Mutation_p.R264H|GALC_uc010tvz.1_Missense_Mutation_p.R234H|GALC_uc001xvu.2_Missense_Mutation_p.R290H	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	290					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATTTAAAATGCGACCCCAGCA	0.343													T	88434718	C	T	88434718	3	4	4	1	0	0	0	0	1	0	0	0	6201	768	27	1	1291	1	GALC	14	88434718	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	33638	88434718	18914822	3276	5341											
EML5	161436	broad.mit.edu	37	chr14	89154769	89154769	+	Frame_Shift_Del	DEL	T	T	-													ctgcacacatcattgtgtcaTttttccccagtgtgcctatg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:89154768_89154768AT>A	uc021ryf.1	-	17	2838	c.2589_2589AT>T	c.(2587-2589)aatfs	p.N863fs	EML5_uc021ryg.1_Frame_Shift_Del_p.N863fs|EML5_uc001xxh.1_Intron	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	863						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCATTGTGTCATTTTTCCCCA	0.393													-	89154769	T	-	89154769	7	5	4	1	0	1	0	1	0	0	0	0	5100	1493	52	0	3449	0	EML5	14	89154769	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	720051	89154769	18194771	3277	5342											
C14orf102	55051	broad.mit.edu	37	chr14	90755095	90755095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcgtgctcataagcctttCgcgctttcaaaatgtgaaca	9	10	2	1	rs142600051		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:90755095C>T	uc001xyi.2	-	10	2857	c.2624G>A	c.(2623-2625)cGa>cAa	p.R875Q	C14orf102_uc010atp.1_Missense_Mutation_p.R380Q|C14orf102_uc001xyj.2_Missense_Mutation_p.R644Q	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	875							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		ATAAGCCTTTCGCGCTTTCAA	0.532													T	90755095	C	T	90755095	3	4	4	1	0	0	0	0	1	0	0	0	1735	884	31	1	886	1	C14orf102	14	90755095	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1600326	90755095	16594445	3278	5343											
C14orf102	55051	broad.mit.edu	37	chr14	90769464	90769464	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggccaggacttttcatgacCtcgtcctcaacaacaaaaac	6	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:90769464C>A	uc001xyi.2	-	5	1244	c.1011G>T	c.(1009-1011)gaG>gaT	p.E337D	C14orf102_uc010atp.1_Intron|C14orf102_uc001xyj.2_Missense_Mutation_p.E106D	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	337							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		TTTTCATGACCTCGTCCTCAA	0.473													A	90769464	C	A	90769464	3	1	4	1	0	0	0	0	1	0	0	0	1735	680	24	5	2519	5	C14orf102	14	90769464	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	14369	90769464	16580076	3279	5344											
C14orf102	55051	broad.mit.edu	37	chr14	90784357	90784357	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaaaaactaccttgtcagCggtaacccttcagaaacatg	6	11	2	1	rs146955955		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:90784357C>T	uc001xyi.2	-	1	398	c.165G>A	c.(163-165)ccG>ccA	p.P55P	C14orf102_uc001xyj.2_Intron	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	55							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		ACCTTGTCAGCGGTAACCCTT	0.418													T	90784357	C	T	90784357	2	4	4	1	0	0	0	0	0	0	0	1	1735	755	27	1		1	C14orf102	14	90784357	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	14893	90784357	16565183	3280	5345											
CATSPERB	79820	broad.mit.edu	37	chr14	92076988	92076988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaaagcactcagtagaggCtgaccacataataaatgcca	7	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:92076988C>T	uc001xzs.1	-	20	2574	c.2434G>A	c.(2434-2436)Gcc>Acc	p.A812T	CATSPERB_uc010aub.1_Missense_Mutation_p.A334T	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	812					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TCAGTAGAGGCTGACCACATA	0.383													T	92076988	C	T	92076988	3	4	4	1	0	0	0	0	1	0	0	0	2691	797	28	2	944	2	CATSPERB	14	92076988	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1292631	92076988	15272552	3281	5346											
RIN3	79890	broad.mit.edu	37	chr14	93125612	93125612	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaggatggttcgctgcagcaGctcaaggagaaccagttagt	13	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:93125612G>C	uc001yap.3	+	6	2285	c.2133G>C	c.(2131-2133)caG>caC	p.Q711H	RIN3_uc010auk.3_Missense_Mutation_p.Q373H|RIN3_uc001yaq.3_Missense_Mutation_p.Q636H|RIN3_uc001yar.1_Missense_Mutation_p.Q373H|RIN3_uc001yas.1_Missense_Mutation_p.Q373H	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	711	Interaction with RAB5B.|VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CGCTGCAGCAGCTCAAGGAGA	0.547													C	93125612	G	C	93125612	3	2	4	1	0	0	0	0	1	0	0	0	13373	962	34	5	2159	5	RIN3	14	93125612	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1048624	93125612	14223928	3282	5347											
RIN3	79890	broad.mit.edu	37	chr14	93125643	93125643	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagttagtgatcctggccAccaccaccactgacctaggt	8	15	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:93125643A>G	uc001yap.3	+	6	2316	c.2164A>G	c.(2164-2166)Acc>Gcc	p.T722A	RIN3_uc010auk.3_Missense_Mutation_p.T384A|RIN3_uc001yaq.3_Missense_Mutation_p.T647A|RIN3_uc001yar.1_Missense_Mutation_p.T384A|RIN3_uc001yas.1_Missense_Mutation_p.T384A	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	722	Interaction with RAB5B.|Poly-Thr.|VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	p.A721T(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GATCCTGGCCACCACCACCAC	0.567													G	93125643	A	G	93125643	3	3	4	1	0	0	0	0	1	0	0	0	13373	159	6	3	2190	3	RIN3	14	93125643	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	31	93125643	14223897	3283	5348											
BTBD7	55727	broad.mit.edu	37	chr14	93708973	93708973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttttgtctgtgtagatgCccgtcaggggaaagtggata	13	6	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:93708973C>T	uc001ybo.3	-	10	3371	c.3045G>A	c.(3043-3045)ggG>ggA	p.G1015G	BTBD7_uc010aur.3_Silent_p.G540G|BTBD7_uc010two.2_Silent_p.G835G|BTBD7_uc001ybp.3_Silent_p.G664G	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	1015										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGTGTAGATGCCCGTCAGGGG	0.498													T	93708973	C	T	93708973	2	4	4	1	0	0	0	0	0	0	0	1	1546	726	26	2		2	BTBD7	14	93708973	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	583330	93708973	13640567	3284	5349											
BTBD7	55727	broad.mit.edu	37	chr14	93730184	93730184	+	Frame_Shift_Del	DEL	A	A	-													atggtctttgctgagttcatAaaaaacatccgaagtcatga							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:93730183_93730183TA>T	uc001ybo.3	-	3	1645	c.1319_1319TA>A	c.(1318-1320)tatfs	p.Y440fs	BTBD7_uc010aur.3_Intron|BTBD7_uc010two.2_Intron|BTBD7_uc001ybp.3_Frame_Shift_Del_p.Y89fs|BTBD7_uc001ybq.4_Frame_Shift_Del_p.Y355fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	440										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTGAGTTCATAAAAAACATC	0.423													-	93730184	A	-	93730184	7	5	4	1	0	1	0	1	0	0	0	0	1546	362	13	0	2112	0	BTBD7	14	93730184	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	21211	93730184	13619356	3285	5350											
ASB2	51676	broad.mit.edu	37	chr14	94405768	94405768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtcgcggttggggtcggCgccgtgttgcagcagcagct	18	11	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:94405768C>T	uc001ycd.3	-	7	1673	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T	ASB2_uc001ycb.2_Missense_Mutation_p.A81T|ASB2_uc001ycc.2_Missense_Mutation_p.A387T|ASB2_uc001yce.1_Missense_Mutation_p.A333T	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	387					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TTGGGGTCGGCGCCGTGTTGC	0.677													T	94405768	C	T	94405768	3	4	4	1	0	0	0	0	1	0	0	0	1023	768	27	1	616	1	ASB2	14	94405768	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	675584	94405768	12943772	3286	5351											
ASB2	51676	broad.mit.edu	37	chr14	94417565	94417565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcaccagaatcttcacGgcctccgcgttcttgcgctc	9	16	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:94417565G>A	uc001ycd.3	-	5	1030	c.660C>T	c.(658-660)gcC>gcT	p.A220A	ASB2_uc001ycc.2_Silent_p.A172A|ASB2_uc001yce.1_Silent_p.A118A	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	172					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GAATCTTCACGGCCTCCGCGT	0.622													A	94417565	G	A	94417565	2	1	4	1	0	0	0	0	0	0	0	1	1023	1103	39	1		1	ASB2	14	94417565	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	11797	94417565	12931975	3287	5352											
DDX24	57062	broad.mit.edu	37	chr14	94528700	94528700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcgtcaccaaagagcaacGcctggtctgagacagtgcct	10	13	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:94528700G>A	uc001ycj.3	-	2	1085	c.986C>T	c.(985-987)gCg>gTg	p.A329V	DDX24_uc010twq.2_Missense_Mutation_p.A286V|DDX24_uc010twr.2_Missense_Mutation_p.A79V	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	329	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		AAAGAGCAACGCCTGGTCTGA	0.507													A	94528700	G	A	94528700	3	1	4	1	0	0	0	0	1	0	0	0	4351	1087	38	1	1621	1	DDX24	14	94528700	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	111135	94528700	12820840	3288	5353											
SERPINA1	5265	broad.mit.edu	37	chr14	94844885	94844885	+	Frame_Shift_Del	DEL	G	G	-													ggtttgttgaacttgacctcGggggggatagacatgggtat					rs121912712		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:94844884_94844884CG>C	uc001ycy.4	-	6	1713	c.1159_1159CG>G	c.(1159-1161)gagfs	p.E387fs	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Frame_Shift_Del_p.E387fs|SERPINA1_uc010auy.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc001ycz.4_Frame_Shift_Del_p.E387fs|SERPINA1_uc010auz.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc010ava.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc001ydb.4_Frame_Shift_Del_p.E387fs|SERPINA1_uc010avb.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc001ydc.4_Frame_Shift_Del_p.E387fs|SERPINA1_uc010auw.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc010aux.3_Frame_Shift_Del_p.E387fs	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	387	RCL.		E -> K (in Christchurch).		acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	AACTTGACCTCGGGGGGGATA	0.488													-	94844885	G	-	94844885	7	5	4	1	0	1	0	1	0	0	0	0	14086	1103	39	0	102	0	SERPINA1	14	94844885	Frame_Shift_Del	DEL	G	TCGA-BR-4184-01A-01D-1126-08	316185	94844885	12504655	3289	5354											
SERPINA11	256394	broad.mit.edu	37	chr14	94914995	94914995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggggctggctctgagagCtgatgcctggggggttgagg	22	7	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:94914995C>T	uc001ydd.1	-	1	177	c.117G>A	c.(115-117)caG>caA	p.Q39Q		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	39					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GCTCTGAGAGCTGATGCCTGG	0.562													T	94914995	C	T	94914995	2	4	4	1	0	0	0	0	0	0	0	1	14088	796	28	2		2	SERPINA11	14	94914995	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	70110	94914995	12434545	3290	5355											
SERPINA12	145264	broad.mit.edu	37	chr14	94964324	94964324	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctctggtcaatgaacagCgtgttcccaatgctcagttt	9	11	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:94964324C>T	uc001ydj.3	-	2	1207	c.411G>A	c.(409-411)acG>acA	p.T137T		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	137					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CAATGAACAGCGTGTTCCCAA	0.468													T	94964324	C	T	94964324	2	4	4	1	0	0	0	0	0	0	0	1	14089	755	27	1		1	SERPINA12	14	94964324	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	49329	94964324	12385216	3291	5356											
CLMN	79789	broad.mit.edu	37	chr14	95682030	95682030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaaccaaagaagggttgCcatctgctatttctgctgca	9	10	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:95682030C>T	uc001yef.2	-	4	481	c.365G>A	c.(364-366)gGc>gAc	p.G122D		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	122	Actin-binding.|CH 1.					integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AGAAGGGTTGCCATCTGCTAT	0.408													T	95682030	C	T	95682030	3	4	4	1	0	0	0	0	1	0	0	0	3542	739	26	2	2679	2	CLMN	14	95682030	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	717706	95682030	11667510	3292	5357											
C14orf49	161176	broad.mit.edu	37	chr14	95922035	95922035	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtctccagagactcctcGcccctgggaaaatctttggc	10	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:95922035G>A	uc001yei.4	-	4	831	c.816C>T	c.(814-816)ggC>ggT	p.G272G	C14orf49_uc010avi.3_Silent_p.G272G|C14orf49_uc001yej.1_Silent_p.G272G	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	272					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		GAGACTCCTCGCCCCTGGGAA	0.527													A	95922035	G	A	95922035	2	1	4	1	0	0	0	0	0	0	0	1	1776	1074	38	1		1	C14orf49	14	95922035	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	240005	95922035	11427505	3293	5358											
BDKRB2	624	broad.mit.edu	37	chr14	96707401	96707401	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcaccttctgcacgatgCagatcatgcaggtgctgcgg	11	12	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:96707401C>T	uc010avm.1	+	2	932	c.736C>T	c.(736-738)Cag>Tag	p.Q246*	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Nonsense_Mutation_p.Q219*|BDKRB2_uc001yfg.2_Nonsense_Mutation_p.Q246*	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	246					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CTGCACGATGCAGATCATGCA	0.547													T	96707401	C	T	96707401	4	4	4	1	0	0	0	0	0	1	0	0	1393	711	25	2	742	2	BDKRB2	14	96707401	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	785366	96707401	10642139	3294	5359											
ATG2B	55102	broad.mit.edu	37	chr14	96756089	96756089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccttttggtcttcttgggCtcgatagaaagggtaccagg	12	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:96756089C>T	uc001yfi.3	-	40	6275	c.5910G>A	c.(5908-5910)gaG>gaA	p.E1970E		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1970										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCTTCTTGGGCTCGATAGAAA	0.473													T	96756089	C	T	96756089	2	4	4	1	0	0	0	0	0	0	0	1	1094	796	28	2		2	ATG2B	14	96756089	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	48688	96756089	10593451	3295	5360											
SETD3	84193	broad.mit.edu	37	chr14	99865307	99865307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcttcatatttgggaagCggagccttttcctccatctg	8	12	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:99865307C>T	uc001ygc.3	-	12	1664	c.1494G>A	c.(1492-1494)ccG>ccA	p.P498P		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA.	498					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	p.P498L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				ATTTGGGAAGCGGAGCCTTTT	0.517													T	99865307	C	T	99865307	2	4	4	1	0	0	0	0	0	0	0	1	14132	755	27	1		1	SETD3	14	99865307	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3109218	99865307	7484233	3296	5361											
SETD3	84193	broad.mit.edu	37	chr14	99932082	99932082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcaagatttcctttggtgAcacagttgctgtagcaccag	10	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:99932082A>G	uc001ygc.3	-	1	231	c.61T>C	c.(61-63)Tca>Cca	p.S21P	SETD3_uc001ygd.3_Missense_Mutation_p.S21P|SETD3_uc021sbn.1_Missense_Mutation_p.S21P|SETD3_uc001ygf.3_Missense_Mutation_p.S21P	NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA.	21					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TCCTTTGGTGACACAGTTGCT	0.448													G	99932082	A	G	99932082	3	3	4	1	0	0	0	0	1	0	0	0	14132	275	10	3	1817	3	SETD3	14	99932082	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	66775	99932082	7417458	3297	5362											
EVL	51466	broad.mit.edu	37	chr14	100595920	100595920	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaagacgcatctggaggCtccagtcccagtgggacctc	12	14	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:100595920C>T	uc001ygu.3	+	6	825	c.738C>T	c.(736-738)ggC>ggT	p.G246G	EVL_uc001ygt.3_Silent_p.G244G|EVL_uc001ygv.2_Silent_p.G250G	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Homo sapiens Enah/Vasp-like (EVL), mRNA.	244	EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	SH3 domain binding|actin binding|profilin binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				CATCTGGAGGCTCCAGTCCCA	0.587													T	100595920	C	T	100595920	2	4	4	1	0	0	0	0	0	0	0	1	5291	784	28	2		2	EVL	14	100595920	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	663838	100595920	6753620	3298	5363											
DIO3	1735	broad.mit.edu	37	chr14	102028655	102028655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actattatgtaccagggcggCcgtggccccgacggctacca	12	14	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:102028655C>T	uc021sdx.1	+	0	968	c.822C>T	c.(820-822)ggC>ggT	p.G274G	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	248					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				ACCAGGGCGGCCGTGGCCCCG	0.607													T	102028655	C	T	102028655	2	4	4	1	0	0	0	0	0	0	0	1	4526	726	26	2		2	DIO3	14	102028655	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1432735	102028655	5320885	3299	5364											
PPP2R5C	5527	broad.mit.edu	37	chr14	102349641	102349641	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagagtctccagatttccaAcctaatatagcgaagaaata	6	8	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:102349641A>G	uc001yko.3	+	3	593	c.453A>G	c.(451-453)caA>caG	p.Q151Q	PPP2R5C_uc010txr.2_Silent_p.Q182Q|PPP2R5C_uc001ykk.3_Silent_p.Q206Q|PPP2R5C_uc010txt.2_Silent_p.Q141Q|PPP2R5C_uc001ykn.3_Silent_p.Q151Q|PPP2R5C_uc001ykp.3_Silent_p.Q151Q|PPP2R5C_uc001ykq.3_Silent_p.Q49Q	NM_002719	NP_002710	Q13362	2A5G_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA.	151					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAGATTTCCAACCTAATATAG	0.343													G	102349641	A	G	102349641	2	3	4	1	0	0	0	0	0	0	0	1	12394	40	2	3		3	PPP2R5C	14	102349641	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	320986	102349641	4999899	3300	5365											
PPP2R5C	5527	broad.mit.edu	37	chr14	102356590	102356590	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctaggtttatttatgaaacaGagcatcataatggcatagca	8	6	1	2	rs4617782		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:102356590G>A	uc001yko.3	+	5	786	c.646G>A	c.(646-648)Gag>Aag	p.E216K	PPP2R5C_uc010txr.2_Missense_Mutation_p.E247K|PPP2R5C_uc001ykk.3_Missense_Mutation_p.E271K|PPP2R5C_uc010txt.2_Missense_Mutation_p.E206K|PPP2R5C_uc001ykn.3_Missense_Mutation_p.E216K|PPP2R5C_uc001ykp.3_Missense_Mutation_p.E216K|PPP2R5C_uc001ykq.3_Missense_Mutation_p.E114K	NM_002719	NP_002710	Q13362	2A5G_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA.	216					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TTATGAAACAGAGCATCATAA	0.388													A	102356590	G	A	102356590	3	1	4	1	0	0	0	0	1	0	0	0	12394	943	33	4	1037	4	PPP2R5C	14	102356590	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	6949	102356590	4992950	3301	5366											
DYNC1H1	1778	broad.mit.edu	37	chr14	102453010	102453010	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggaagtgcaggccctgatCgcagaaggcattgcgttggt	15	8	0	2	rs145405293	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:102453010C>T	uc001yks.2	+	7	2612	c.2448C>T	c.(2446-2448)atC>atT	p.I816I		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	816	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGGCCCTGATCGCAGAAGGCA	0.512													T	102453010	C	T	102453010	2	4	4	1	0	0	0	0	0	0	0	1	4841	874	31	1		1	DYNC1H1	14	102453010	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	96420	102453010	4896530	3302	5367											
DYNC1H1	1778	broad.mit.edu	37	chr14	102469005	102469005	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaggcagtgcagatatcaaGcacctgctgccagtggaaac	11	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:102469005G>T	uc001yks.2	+	21	4838	c.4674G>T	c.(4672-4674)aaG>aaT	p.K1558N		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1558	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGATATCAAGCACCTGCTGC	0.522													T	102469005	G	T	102469005	3	4	4	1	0	0	0	0	1	0	0	0	4841	962	34	5	4760	5	DYNC1H1	14	102469005	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	15995	102469005	4880535	3303	5368											
CDC42BPB	9578	broad.mit.edu	37	chr14	103442313	103442313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctgtgctccaggtcccGctgcacatcctcatctttgg	10	15	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:103442313G>A	uc001ymi.1	-	9	1526	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	432					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCCAGGTCCCGCTGCACATCC	0.517													A	103442313	G	A	103442313	3	1	4	1	0	0	0	0	1	0	0	0	3073	1086	38	1	3953	1	CDC42BPB	14	103442313	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	973308	103442313	3907227	3304	5369											
CDC42BPB	9578	broad.mit.edu	37	chr14	103447231	103447231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttagaccttcaaaaaacGcatgctttttgaaatcctct	4	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:103447231G>A	uc001ymi.1	-	7	1251	c.1019C>T	c.(1018-1020)gCg>gTg	p.A340V		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	340	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTCAAAAAACGCATGCTTTTT	0.453													A	103447231	G	A	103447231	3	1	4	1	0	0	0	0	1	0	0	0	3073	1087	38	1	4236	1	CDC42BPB	14	103447231	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4918	103447231	3902309	3305	5370											
MARK3	4140	broad.mit.edu	37	chr14	103941507	103941507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagtaatcctaataaggCggatattcctgaacgcaaga	9	8	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:103941507C>T	uc001ymz.4	+	12	2108	c.1442C>T	c.(1441-1443)gCg>gTg	p.A481V	MARK3_uc001ymx.4_Missense_Mutation_p.A481V|MARK3_uc001ymw.4_Missense_Mutation_p.A481V|MARK3_uc001yna.4_Missense_Mutation_p.A465V|MARK3_uc001ymy.4_Missense_Mutation_p.A402V|MARK3_uc010awp.3_Missense_Mutation_p.A504V|MARK3_uc010tyb.2_Missense_Mutation_p.A276V|MARK3_uc010awq.3_Missense_Mutation_p.A11V	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA.	481							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			CCTAATAAGGCGGATATTCCT	0.483													T	103941507	C	T	103941507	3	4	4	1	0	0	0	0	1	0	0	0	9314	768	27	1	1492	1	MARK3	14	103941507	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	494276	103941507	3408033	3306	5371											
ZFYVE21	79038	broad.mit.edu	37	chr14	104194182	104194182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaccccgtgcggcagtgcGcggagtgcgccctcgtgtcc	16	15	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:104194182G>A	uc001yod.3	+	2	387	c.289G>A	c.(289-291)Gcg>Acg	p.A97T	ZFYVE21_uc001yoc.3_Missense_Mutation_p.A97T|JA611241_uc021sei.1_5'Flank	NM_001198953	NP_001185882	Q9BQ24	ZFY21_HUMAN	Homo sapiens zinc finger, FYVE domain containing 21 (ZFYVE21), transcript variant 1, mRNA.	97						cytoplasmic membrane-bounded vesicle|focal adhesion	metal ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(2)	8		Melanoma(154;0.226)		Epithelial(152;0.245)		GCGGCAGTGCGCGGAGTGCGC	0.662													A	104194182	G	A	104194182	3	1	4	1	0	0	0	0	1	0	0	0	17664	1087	38	1	299	1	ZFYVE21	14	104194182	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	252675	104194182	3155358	3307	5372											
ADSSL1	122622	broad.mit.edu	37	chr14	105208225	105208225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatccaactgcaccgtgggCggtgtgtgcacgggcctggg	16	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:105208225C>T	uc001ypd.3	+	8	908	c.834C>T	c.(832-834)ggC>ggT	p.G278G	ADSSL1_uc001ype.3_Silent_p.G321G|ADSSL1_uc001ypf.3_Non-coding_Transcript	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 2, mRNA.	278					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GCACCGTGGGCGGTGTGTGCA	0.602													T	105208225	C	T	105208225	2	4	4	1	0	0	0	0	0	0	0	1	348	755	27	1		1	ADSSL1	14	105208225	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1014043	105208225	2141315	3308	5373											
AHNAK2	113146	broad.mit.edu	37	chr14	105406357	105406357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccctccccacaaggctggCtcactgggacatccccgagc	9	19	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:105406357C>T	uc010axc.1	-	6	15551	c.15431G>A	c.(15430-15432)aGc>aAc	p.S5144N	AHNAK2_uc021sen.1_Missense_Mutation_p.S541N|AHNAK2_uc021seo.1_Missense_Mutation_p.S142N|AHNAK2_uc001ypx.2_Missense_Mutation_p.S5044N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5144						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		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)			ACAAGGCTGGCTCACTGGGAC	0.582													T	105406357	C	T	105406357	3	4	4	1	0	0	0	0	1	0	0	0	415	797	28	2	1960	2	AHNAK2	14	105406357	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	198132	105406357	1943183	3309	5374											
AHNAK2	113146	broad.mit.edu	37	chr14	105413326	105413326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccgacaccccgaatgacGgcatcttgaacttgggcatt	12	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:105413326G>A	uc010axc.1	-	6	8582	c.8462C>T	c.(8461-8463)cCg>cTg	p.P2821L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P2721L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2821						nucleus		p.P2821L(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		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)			CCCGAATGACGGCATCTTGAA	0.607													A	105413326	G	A	105413326	3	1	4	1	0	0	0	0	1	0	0	0	415	1116	39	1	8929	1	AHNAK2	14	105413326	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	6969	105413326	1936214	3310	5375											
AHNAK2	113146	broad.mit.edu	37	chr14	105415885	105415885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggtctccctccagccgcGcaccatccagcttagccttc	7	19	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:105415885G>A	uc010axc.1	-	6	6023	c.5903C>T	c.(5902-5904)gCg>gTg	p.A1968V	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.A1868V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1968						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		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)			CTCCAGCCGCGCACCATCCAG	0.592													A	105415885	G	A	105415885	3	1	4	1	0	0	0	0	1	0	0	0	415	1087	38	1	11488	1	AHNAK2	14	105415885	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2559	105415885	1933655	3311	5376											
CDCA4	55038	broad.mit.edu	37	chr14	105478028	105478028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctggggtgccactgtgCgccacgtcccatcctgcgtc	12	17	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:105478028C>T	uc021sep.1	-	0	239	c.239G>A	c.(238-240)cGc>cAc	p.R80H	CDCA4_uc001yqa.2_Missense_Mutation_p.R80H|CDCA4_uc001yqb.2_Missense_Mutation_p.R80H	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	Homo sapiens cell division cycle associated 4 (CDCA4), transcript variant 2, mRNA.	80						nucleus		p.R80C(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		TGCCACTGTGCGCCACGTCCC	0.652													T	105478028	C	T	105478028	3	4	4	1	0	0	0	0	1	0	0	0	3088	768	27	1	490	1	CDCA4	14	105478028	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	62143	105478028	1871512	3312	5377											
GPR132	29933	broad.mit.edu	37	chr14	105517738	105517738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggaagatgacaaccaccgCgatggccgagtgcttcacct	11	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:105517738C>T	uc001yqd.3	-	3	1635	c.736G>A	c.(736-738)Gcg>Acg	p.A246T	GPR132_uc001yqc.3_Missense_Mutation_p.A58T|GPR132_uc001yqe.3_Missense_Mutation_p.A237T	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.	246					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		ACAACCACCGCGATGGCCGAG	0.567													T	105517738	C	T	105517738	3	4	4	1	0	0	0	0	1	0	0	0	6642	768	27	1	410	1	GPR132	14	105517738	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	39710	105517738	1831802	3313	5378											
JAG2	3714	broad.mit.edu	37	chr14	105618517	105618517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgtcacagagcaggccGccccagttggtctcacagtt	10	14	2	1	rs138120492		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:105618517G>A	uc001yqg.3	-	5	1304	c.900C>T	c.(898-900)ggC>ggT	p.G300G	JAG2_uc001yqf.3_5'Flank|JAG2_uc001yqh.3_Silent_p.G300G	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	300	EGF-like 2; atypical.				Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AGAGCAGGCCGCCCCAGTTGG	0.642													A	105618517	G	A	105618517	2	1	4	1	0	0	0	0	0	0	0	1	7935	1074	38	1		1	JAG2	14	105618517	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	100779	105618517	1731023	3314	5379											
BRF1	2972	broad.mit.edu	37	chr14	105707625	105707625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcagaggcccgaggggCgccggcctgtgtgcatccag	16	15	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:105707625C>T	uc001yqp.2	-	5	1034	c.671G>A	c.(670-672)cGc>cAc	p.R224H	BRF1_uc010tyo.1_Missense_Mutation_p.R109H|BRF1_uc010typ.1_Missense_Mutation_p.R109H|BRF1_uc001yql.2_Missense_Mutation_p.R20H|BRF1_uc001yqo.2_Intron|BRF1_uc010axg.1_Missense_Mutation_p.R197H|BRF1_uc001yqn.2_Non-coding_Transcript|BRF1_uc010axh.1_Non-coding_Transcript|BRF1_uc010axj.1_Intron	NM_001519	NP_663718	Q92994	TF3B_HUMAN	Homo sapiens BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) (BRF1), transcript variant 1, mRNA.	224				R -> G (in Ref. 1; AAC50170).	positive regulation of transcription, DNA-dependent|rRNA transcription|tRNA transcription|transcription initiation from RNA polymerase III promoter	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GCCCGAGGGGCGCCGGCCTGT	0.652													T	105707625	C	T	105707625	3	4	4	1	0	0	0	0	1	0	0	0	1510	768	27	1	1414	1	BRF1	14	105707625	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	89108	105707625	1641915	3315	5380											
BTBD6	90135	broad.mit.edu	37	chr14	105716187	105716187	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgctgggaggtcattgaCgcacaggccgagatggccct	15	12	1	2	rs147665481	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:105716187C>T	uc010tyq.2	+	4	744	c.636C>T	c.(634-636)gaC>gaT	p.D212D	BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc001yqp.2_Intron|BRF1_uc010axg.1_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank	NM_033271	NP_150374	Q96KE9	BTBD6_HUMAN	Homo sapiens BTB (POZ) domain containing 6 (BTBD6), mRNA.	212						cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		AGGTCATTGACGCACAGGCCG	0.607													T	105716187	C	T	105716187	2	4	4	1	0	0	0	0	0	0	0	1	1545	535	19	1		1	BTBD6	14	105716187	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	8562	105716187	1633353	3316	5381											
OR4N4	283694	broad.mit.edu	37	chr15	22383015	22383015	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gacaacttcttctgtgatgtCcgacaggtcatcaagctggc	10	11	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:22383015C>A	uc001yuc.1	+	6	1524	c.543C>A	c.(541-543)gtC>gtA	p.V181V	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Silent_p.V181V	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTGTGATGTCCGACAGGTCA	0.527													A	22383015	C	A	22383015	2	1	4	1	0	0	0	0	0	0	0	1	11078	842	30	5		5	OR4N4	15	22383015	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08		22383015	80148377	3317	5382											
CYFIP1	23191	broad.mit.edu	37	chr15	22945147	22945147	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgtcgcagtggagcgcGcacgtgatggaagtggtagg	18	7	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:22945147G>A	uc001yus.3	+	11	1322	c.1218G>A	c.(1216-1218)gcG>gcA	p.A406A	CYFIP1_uc001yut.3_Silent_p.A406A|CYFIP1_uc010aya.1_Silent_p.A434A	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	406					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGTGGAGCGCGCACGTGATGG	0.632													A	22945147	G	A	22945147	2	1	4	1	0	0	0	0	0	0	0	1	4137	1074	38	1		1	CYFIP1	15	22945147	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	562132	22945147	79586245	3318	5383											
CYFIP1	23191	broad.mit.edu	37	chr15	22997826	22997826	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtgtgtgacctgctgcaCgcggctcctttccagaacat	11	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:22997826C>T	uc001yus.3	+	26	3176	c.3072C>T	c.(3070-3072)caC>caT	p.H1024H	CYFIP1_uc001yut.3_Silent_p.H1024H|CYFIP1_uc001yuu.3_Silent_p.H593H|CYFIP1_uc001yuv.3_Silent_p.H218H	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	1024					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ACCTGCTGCACGCGGCTCCTT	0.567													T	22997826	C	T	22997826	2	4	4	1	0	0	0	0	0	0	0	1	4137	535	19	1		1	CYFIP1	15	22997826	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	52679	22997826	79533566	3319	5384											
NDN	4692	broad.mit.edu	37	chr15	23931741	23931741	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagcacgttccagacggcGctctctctggcgccgcggcc	13	18	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:23931741G>A	uc001ywk.3	-	0	710	c.624C>T	c.(622-624)agC>agT	p.S208S		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	208	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TCCAGACGGCGCTCTCTCTGG	0.637									Prader-Willi syndrome				A	23931741	G	A	23931741	2	1	4	1	0	0	0	0	0	0	0	1	10247	1078	38	1		1	NDN	15	23931741	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	933915	23931741	78599651	3320	5385											
C15orf2	23742	broad.mit.edu	37	chr15	24922492	24922492	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtcgtaggagcagcgcctcTcacttctgaccccccaacac	8	17	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:24922492T>A	uc001ywo.3	+	0	1952	c.1478T>A	c.(1477-1479)cTc>cAc	p.L493H		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	493	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.L493L(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GCAGCGCCTCTCACTTCTGAC	0.527													A	24922492	T	A	24922492	3	1	4	1	0	0	0	0	1	0	0	0	1784	1551	54	5	1480	5	C15orf2	15	24922492	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	990751	24922492	77608900	3321	5386											
ATP10A	57194	broad.mit.edu	37	chr15	25932965	25932965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcactgcaaagtcgctgGccatcactgccttcaaaggg	11	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:25932965G>A	uc010ayu.3	-	15	3282	c.3176C>T	c.(3175-3177)gCc>gTc	p.A1059V		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	1059					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AAAGTCGCTGGCCATCACTGC	0.517													A	25932965	G	A	25932965	3	1	4	1	0	0	0	0	1	0	0	0	1116	1203	42	2	1347	2	ATP10A	15	25932965	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1010473	25932965	76598427	3322	5387											
HERC2	8924	broad.mit.edu	37	chr15	28366571	28366571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactactttccggaaagccGcctcctaaaacacatcaaac	5	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:28366571G>A	uc001zbj.3	-	85	13299	c.13193C>T	c.(13192-13194)gCg>gTg	p.A4398V		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	4398					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCGGAAAGCCGCCTCCTAAAA	0.433													A	28366571	G	A	28366571	3	1	4	1	0	0	0	0	1	0	0	0	7058	1087	38	1	1343	1	HERC2	15	28366571	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2433606	28366571	74164821	3323	5388											
HERC2	8924	broad.mit.edu	37	chr15	28389918	28389918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taactcatcccctgggatgcGcagctcgctggaccagtcgg	12	14	1	0	rs143963667		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:28389918G>A	uc001zbj.3	-	71	11147	c.11041C>T	c.(11041-11043)Cgc>Tgc	p.R3681C		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3681					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCTGGGATGCGCAGCTCGCTG	0.577													A	28389918	G	A	28389918	3	1	4	1	0	0	0	0	1	0	0	0	7058	1087	38	1	3551	1	HERC2	15	28389918	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	23347	28389918	74141474	3324	5389											
HERC2	8924	broad.mit.edu	37	chr15	28501354	28501354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacggtgctcagcacgcccGcactgctggccagggtcacc	13	17	2	0	rs149493788		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:28501354G>A	uc001zbj.3	-	17	2733	c.2627C>T	c.(2626-2628)gCg>gTg	p.A876V	HERC2_uc001zbl.1_Missense_Mutation_p.A571V	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	876					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGCACGCCCGCACTGCTGGC	0.667													A	28501354	G	A	28501354	3	1	4	1	0	0	0	0	1	0	0	0	7058	1087	38	1	12181	1	HERC2	15	28501354	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	111436	28501354	74030038	3325	5390											
APBA2	321	broad.mit.edu	37	chr15	29397673	29397673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaaccccgaagacttgaGccagaaggaatacagcgaca	9	12	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:29397673G>A	uc001zck.3	+	9	1820	c.1616G>A	c.(1615-1617)aGc>aAc	p.S539N	APBA2_uc010azj.2_Missense_Mutation_p.S527N|APBA2_uc010uat.2_Missense_Mutation_p.S527N|APBA2_uc001zcl.3_Missense_Mutation_p.S527N	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	539	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GAAGACTTGAGCCAGAAGGAA	0.562													A	29397673	G	A	29397673	3	1	4	1	0	0	0	0	1	0	0	0	757	971	34	2	1646	2	APBA2	15	29397673	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	896319	29397673	73133719	3326	5391											
MTMR10	54893	broad.mit.edu	37	chr15	31253201	31253201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtggagttttctggctgCtgccaccaccagctccatta	10	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:31253201C>T	uc001zfh.1	-	6	739	c.641G>A	c.(640-642)aGc>aAc	p.S214N	MTMR10_uc010azx.1_5'UTR|MTMR10_uc001zfi.1_5'UTR|MTMR10_uc001zfj.3_Missense_Mutation_p.S132N|MTMR10_uc010ubl.1_Non-coding_Transcript	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	Homo sapiens myotubularin related protein 10 (MTMR10), mRNA.	214							phosphatase activity	p.R214Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		TTTCTGGCTGCTGCCACCACC	0.468													T	31253201	C	T	31253201	3	4	4	1	0	0	0	0	1	0	0	0	9939	797	28	2	1732	2	MTMR10	15	31253201	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1855528	31253201	71278191	3327	5392											
TRPM1	4308	broad.mit.edu	37	chr15	31358383	31358383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcagccaggatgaagtggGtgtgggagttgttgagcaca	17	5	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:31358383G>A	uc021sia.1	-	5	1051	c.737C>T	c.(736-738)aCc>aTc	p.T246I	TRPM1_uc010azy.3_Missense_Mutation_p.T120I|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.T229I|TRPM1_uc001zfm.3_Missense_Mutation_p.T207I|MIR211_uc010ubm.1_5'Flank	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	207					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GATGAAGTGGGTGTGGGAGTT	0.532													A	31358383	G	A	31358383	3	1	4	1	0	0	0	0	1	0	0	0	16582	1261	44	4	4279	4	TRPM1	15	31358383	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	105182	31358383	71173009	3328	5393											
TRPM1	4308	broad.mit.edu	37	chr15	31362319	31362319	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgggtgtgcttggcaacaGaccatttctcaggctgagtc	12	10	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:31362319G>T	uc021sia.1	-	2	559	c.245C>A	c.(244-246)tCt>tAt	p.S82Y	TRPM1_uc010azy.3_5'Flank|TRPM1_uc001zfl.3_5'Flank|TRPM1_uc021shz.1_Missense_Mutation_p.S65Y|TRPM1_uc001zfm.3_Missense_Mutation_p.S43Y|TRPM1_uc001zfn.4_Missense_Mutation_p.S43Y|TRPM1_uc010ubn.1_Non-coding_Transcript	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	43					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTTGGCAACAGACCATTTCTC	0.502													T	31362319	G	T	31362319	3	4	4	1	0	0	0	0	1	0	0	0	16582	942	33	5	4783	5	TRPM1	15	31362319	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3936	31362319	71169073	3329	5394											
FMN1	342184	broad.mit.edu	37	chr15	33256409	33256409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcaaattcactggggtcccGaatgtcaggttcttctaagg	10	10	5	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:33256409G>A	uc001zhf.4	-	4	2368	c.2368C>T	c.(2368-2370)Cgg>Tgg	p.R790W		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	1013	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTGGGGTCCCGAATGTCAGGT	0.373													A	33256409	G	A	33256409	3	1	4	1	0	0	0	0	1	0	0	0	5949	1057	37	1	1274	1	FMN1	15	33256409	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1894090	33256409	69274983	3330	5395											
RYR3	6263	broad.mit.edu	37	chr15	34072492	34072492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggagcccacccttaatcGctacaatccactctcggtct	6	17	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:34072492G>A	uc001zhi.3	+	64	9288	c.9218G>A	c.(9217-9219)cGc>cAc	p.R3073H	RYR3_uc010bar.3_Missense_Mutation_p.R3073H	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3073					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R3073C(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACCCTTAATCGCTACAATCCA	0.532													A	34072492	G	A	34072492	3	1	4	1	0	0	0	0	1	0	0	0	13770	1087	38	1	9476	1	RYR3	15	34072492	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	816083	34072492	68458900	3331	5396											
RYR3	6263	broad.mit.edu	37	chr15	34130165	34130165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacatagggtttaatgtggCtgtgttattgacaaatcttt	11	4	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:34130165C>T	uc001zhi.3	+	88	12054	c.11984C>T	c.(11983-11985)gCt>gTt	p.A3995V	RYR3_uc010bar.3_Missense_Mutation_p.A3990V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3995					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTTAATGTGGCTGTGTTATTG	0.448													T	34130165	C	T	34130165	3	4	4	1	0	0	0	0	1	0	0	0	13770	797	28	2	12338	2	RYR3	15	34130165	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	57673	34130165	68401227	3332	5397											
RYR3	6263	broad.mit.edu	37	chr15	34134153	34134153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaaaaaagaagaagcggCggtgtggtcagaaggttgag	16	4	1	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:34134153C>T	uc001zhi.3	+	90	13196	c.13126C>T	c.(13126-13128)Cgg>Tgg	p.R4376W	RYR3_uc010bar.3_Missense_Mutation_p.R4371W	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4376					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAAGAAGCGGCGGTGTGGTCA	0.458													T	34134153	C	T	34134153	3	4	4	1	0	0	0	0	1	0	0	0	13770	759	27	1	13488	1	RYR3	15	34134153	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3988	34134153	68397239	3333	5398											
C15orf24	56851	broad.mit.edu	37	chr15	34393956	34393956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgatccctcagcagcagCcccgggcacctccgagctct	9	20	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:34393956C>T	uc001zhm.3	-	0	98	c.85G>A	c.(85-87)Gct>Act	p.A29T	PGBD4_uc001zho.3_5'Flank	NM_020154	NP_064539	Q9NPA0	CO024_HUMAN	Homo sapiens chromosome 15 open reading frame 24 (C15orf24), mRNA.	29						cytoplasm|integral to membrane	carbohydrate binding|carboxypeptidase activity|purine nucleotide binding			large_intestine(1)|lung(5)|skin(1)	7		all_lung(180;1.76e-08)		all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)		TCAGCAGCAGCCCCGGGCACC	0.637													T	34393956	C	T	34393956	3	4	4	1	0	0	0	0	1	0	0	0	1786	739	26	2	663	2	C15orf24	15	34393956	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	259803	34393956	68137436	3334	5399											
AQR	9716	broad.mit.edu	37	chr15	35182477	35182477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaagacgcagtaggtggcGctcatcaatgtctaatgcca	10	11	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:35182477G>A	uc001ziv.3	-	23	2801	c.2620C>T	c.(2620-2622)Cgc>Tgc	p.R874C		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	874						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGTAGGTGGCGCTCATCAATG	0.433													A	35182477	G	A	35182477	3	1	4	1	0	0	0	0	1	0	0	0	835	1087	38	1	1885	1	AQR	15	35182477	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	788521	35182477	67348915	3335	5400											
ZNF770	54989	broad.mit.edu	37	chr15	35274899	35274899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcttctttaataaaagaGcccgaaaagccttattccta	5	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:35274899G>A	uc001ziw.3	-	2	1091	c.737C>T	c.(736-738)gCt>gTt	p.A246V	ZNF770_uc021siy.1_Missense_Mutation_p.A246V	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	Homo sapiens zinc finger protein 770 (ZNF770), mRNA.	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R245W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TAATAAAAGAGCCCGAAAAGC	0.368													A	35274899	G	A	35274899	3	1	4	1	0	0	0	0	1	0	0	0	18140	971	34	2	1342	2	ZNF770	15	35274899	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	92422	35274899	67256493	3336	5401											
MEIS2	4212	broad.mit.edu	37	chr15	37184485	37184485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgggtagggggtcctccGtgcatcatcatggctgggtg	19	8	2	0	rs139991974		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:37184485G>A	uc001zjr.3	-	11	2397	c.1323C>T	c.(1321-1323)caC>caT	p.H441H	MEIS2_uc001zjl.3_3'UTR|MEIS2_uc010ucj.2_Silent_p.H421H|MEIS2_uc001zjm.3_3'UTR|MEIS2_uc001zjn.3_3'UTR|MEIS2_uc001zjo.3_3'UTR|MEIS2_uc001zjp.3_3'UTR|MEIS2_uc001zjs.3_Silent_p.H434H|MEIS2_uc001zju.3_3'UTR|MEIS2_uc001zjt.3_Silent_p.H434H|MEIS2_uc001zjj.3_Silent_p.H137H|MEIS2_uc001zjk.3_Silent_p.H130H	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA.	441					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.H441H(2)|p.H441Q(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GGGGTCCTCCGTGCATCATCA	0.522													A	37184485	G	A	37184485	2	1	4	1	0	0	0	0	0	0	0	1	9468	1136	40	1		1	MEIS2	15	37184485	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1909586	37184485	65346907	3337	5402											
RASGRP1	10125	broad.mit.edu	37	chr15	38800067	38800067	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccagatagtcaggcatggCttcatacagggagatgaggt	13	8	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:38800067C>A	uc001zke.4	-	8	1280	c.1102G>T	c.(1102-1104)Gcc>Tcc	p.A368S	RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Missense_Mutation_p.A230S|RASGRP1_uc010bbg.3_Missense_Mutation_p.A230S|RASGRP1_uc001zkd.4_Missense_Mutation_p.A368S	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	368	Ras-GEF.				Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCAGGCATGGCTTCATACAGG	0.517													A	38800067	C	A	38800067	3	1	4	1	0	0	0	0	1	0	0	0	13074	797	28	5	1327	5	RASGRP1	15	38800067	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1615582	38800067	63731325	3338	5403											
C15orf53	400359	broad.mit.edu	37	chr15	38990598	38990598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctacctaactgtgccccGccgttcaccacttcctgtct	5	19	2	0	rs143270407	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:38990598G>A	uc001zkf.1	+	1	402	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_207444	NP_997327	Q8NAA6	CO053_HUMAN	Homo sapiens chromosome 15 open reading frame 53 (C15orf53), mRNA.	131								p.R131G(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		ACTGTGCCCCGCCGTTCACCA	0.552													A	38990598	G	A	38990598	3	1	4	1	0	0	0	0	1	0	0	0	1801	1087	38	1	398	1	C15orf53	15	38990598	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	190531	38990598	63540794	3339	5404											
THBS1	7057	broad.mit.edu	37	chr15	39885659	39885659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcaacaccgaaagggaCgatgactatgctggatttgt	10	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:39885659C>T	uc001zkh.3	+	18	3236	c.3057C>T	c.(3055-3057)gaC>gaT	p.D1019D	THBS1_uc010bbi.3_Silent_p.D491D	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	1019	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	p.R1018M(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CCGAAAGGGACGATGACTATG	0.502													T	39885659	C	T	39885659	2	4	4	1	0	0	0	0	0	0	0	1	15850	535	19	1		1	THBS1	15	39885659	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	895061	39885659	62645733	3340	5405											
GPR176	11245	broad.mit.edu	37	chr15	40094085	40094085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatggagagcagggtggCgtgcagctcggcctcccgct	15	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:40094085C>T	uc001zkj.1	-	2	1662	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	GPR176_uc010uck.1_Missense_Mutation_p.A206T	NM_007223	NP_009154	Q14439	GP176_HUMAN	Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA.	266					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	p.A266A(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		AGCAGGGTGGCGTGCAGCTCG	0.582											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	40094085	C	T	40094085	3	4	4	1	0	0	0	0	1	0	0	0	6673	768	27	1	755	1	GPR176	15	40094085	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	208426	40094085	62437307	3341	5406											
PLCB2	5330	broad.mit.edu	37	chr15	40585208	40585208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagccactctgagggaggCcagctcaggcatcaagatct	11	13	4	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:40585208C>T	uc001zld.3	-	20	2546	c.2245G>A	c.(2245-2247)Gcc>Acc	p.A749T	PLCB2_uc001zlc.3_5'Flank|PLCB2_uc010bbo.3_Missense_Mutation_p.A745T|PLCB2_uc010ucm.2_Missense_Mutation_p.A749T	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	749	C2.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CTGAGGGAGGCCAGCTCAGGC	0.577													T	40585208	C	T	40585208	3	4	4	1	0	0	0	0	1	0	0	0	12028	739	26	2	1360	2	PLCB2	15	40585208	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	491123	40585208	61946184	3342	5407											
PLCB2	5330	broad.mit.edu	37	chr15	40591154	40591154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcgtcatgtagggtttgGccttagcatggcttcaagcc	11	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:40591154G>A	uc001zld.3	-	8	996	c.695C>T	c.(694-696)gCc>gTc	p.A232V	PLCB2_uc010bbo.3_Missense_Mutation_p.A232V|PLCB2_uc010ucm.2_Missense_Mutation_p.A232V	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	232					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GTAGGGTTTGGCCTTAGCATG	0.572													A	40591154	G	A	40591154	3	1	4	1	0	0	0	0	1	0	0	0	12028	1203	42	2	2958	2	PLCB2	15	40591154	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5946	40591154	61940238	3343	5408											
CASC5	57082	broad.mit.edu	37	chr15	40917785	40917786	+	Frame_Shift_Ins	INS	-	-	A													agaagatattcataaggagaINSaaaaaatcagaaaaaatgag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:40917784_40917785G>GA	uc010bbs.1	+	10	5561_5562	c.5400_5401G>GA	c.(5398-5403)gagaaafs	p.E1800fs	CASC5_uc010ucq.1_Frame_Shift_Ins_p.E1624fs|CASC5_uc001zme.3_Frame_Shift_Ins_p.E1774fs|CASC5_uc010bbt.1_Frame_Shift_Ins_p.E1774fs	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	1800					CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	p.E1800Q(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTCATAAGGAGAAAAAAATCAG	0.337													A	40917786	-	A	40917785	7	5	4	1	0	1	1	0	0	0	0	0	2663	247	9	0	5439	0	CASC5	15	40917785	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	326631	40917785	61613607	3344	5409											
CASC5	57082	broad.mit.edu	37	chr15	40937938	40937938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactcaccaaggaaaagtgGctctgtatggcaagctggtg	12	9	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:40937938G>A	uc010bbs.1	+	16	6213	c.6052G>A	c.(6052-6054)Gct>Act	p.A2018T	CASC5_uc010bbt.1_Missense_Mutation_p.A1992T	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	2018	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGGAAAAGTGGCTCTGTATGG	0.353													A	40937938	G	A	40937938	3	1	4	1	0	0	0	0	1	0	0	0	2663	1203	42	2	6114	2	CASC5	15	40937938	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	20153	40937938	61593454	3345	5410											
INO80	54617	broad.mit.edu	37	chr15	41276493	41276493	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccgagggaacaaatgggaTcaccaggttcacaccctctt	10	12	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:41276493T>C	uc001zni.3	-	32	4192	c.3979A>G	c.(3979-3981)Atc>Gtc	p.I1327V	INO80_uc010ucu.2_Non-coding_Transcript|INO80_uc021sjj.1_Missense_Mutation_p.I121V	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	1327	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACAAATGGGATCACCAGGTTC	0.478													C	41276493	T	C	41276493	3	2	4	1	0	0	0	0	1	0	0	0	7746	1435	50	3	707	3	INO80	15	41276493	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	338555	41276493	61254899	3346	5411											
MGA	23269	broad.mit.edu	37	chr15	41961288	41961288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctaaagggaagatttgcCttccagctgattgtactgtg	10	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:41961288C>T	uc010ucy.2	+	1	377	c.196C>T	c.(196-198)Ctt>Ttt	p.L66F	MGA_uc001zog.1_Missense_Mutation_p.L66F|MGA_uc010ucz.2_Missense_Mutation_p.L66F	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	66						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GAAGATTTGCCTTCCAGCTGA	0.408													T	41961288	C	T	41961288	3	4	4	1	0	0	0	0	1	0	0	0	9540	681	24	4	198	4	MGA	15	41961288	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	684795	41961288	60570104	3347	5412											
MGA	23269	broad.mit.edu	37	chr15	42035042	42035042	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaactaaagaaactacttaTtcttctggtgccaccactac	5	11	2	1	rs111793456		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:42035042T>A	uc010ucy.2	+	14	5065	c.4884T>A	c.(4882-4884)taT>taA	p.Y1628*	MGA_uc010ucz.2_Intron|MGA_uc010uda.1_Nonsense_Mutation_p.Y244*	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1628	Thr-rich.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AAACTACTTATTCTTCTGGTG	0.443													A	42035042	T	A	42035042	4	1	4	1	0	0	0	0	0	1	0	0	9540	1500	52	5	4938	5	MGA	15	42035042	Nonsense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	73754	42035042	60496350	3348	5413											
MAPKBP1	23005	broad.mit.edu	37	chr15	42105237	42105237	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acagtaccttctgcatcacgTcctcagggctgctgtgcgag	11	13	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:42105237T>A	uc001zok.4	+	7	1043	c.757T>A	c.(757-759)Tcc>Acc	p.S253T	MAPKBP1_uc010bci.3_Missense_Mutation_p.S253T|MAPKBP1_uc010udb.2_Missense_Mutation_p.S141T|MAPKBP1_uc001zoj.4_Missense_Mutation_p.S253T|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	253										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CTGCATCACGTCCTCAGGGCT	0.582													A	42105237	T	A	42105237	3	1	4	1	0	0	0	0	1	0	0	0	9292	1667	58	5	783	5	MAPKBP1	15	42105237	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	70195	42105237	60426155	3349	5414											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42132384	42132384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccaggacctgcctgctcaCggttcgtgtcctgcaggccc	12	16	1	0	rs149781451	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:42132384C>T	uc001zoo.4	+	6	771	c.731C>T	c.(730-732)aCg>aTg	p.T244M	JMJD7-PLA2G4B_uc001zon.2_3'UTR|JMJD7-PLA2G4B_uc010bcn.3_Missense_Mutation_p.T244M|JMJD7-PLA2G4B_uc001zoq.4_5'UTR|JMJD7-PLA2G4B_uc010bco.3_Missense_Mutation_p.T13M|JMJD7-PLA2G4B_uc001zor.1_5'Flank	NM_005090	NP_005081	P0C869	PA24B_HUMAN	Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA.	13					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						TGCCTGCTCACGGTTCGTGTC	0.662													T	42132384	C	T	42132384	3	4	4	1	0	0	0	0	1	0	0	0	7955	536	19	1	757	1	JMJD7-PLA2G4B	15	42132384	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	27147	42132384	60399008	3350	5415											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42139574	42139574	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttctgccaggagcaggggAtcccgttcccacccatctcg	12	15	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:42139574A>G	uc001zoo.4	+	23	2720	c.2680A>G	c.(2680-2682)Atc>Gtc	p.I894V	JMJD7-PLA2G4B_uc010bcn.3_Intron|JMJD7-PLA2G4B_uc001zoq.4_Missense_Mutation_p.I364V|JMJD7-PLA2G4B_uc010bco.3_Missense_Mutation_p.I663V	NM_005090	NP_005081	P0C869	PA24B_HUMAN	Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA.	663					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GGAGCAGGGGATCCCGTTCCC	0.692													G	42139574	A	G	42139574	3	3	4	1	0	0	0	0	1	0	0	0	7955	333	12	3	2774	3	JMJD7-PLA2G4B	15	42139574	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	7190	42139574	60391818	3351	5416											
PLA2G4F	255189	broad.mit.edu	37	chr15	42436328	42436328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgagctggttggggaaggCgtccgggtgtgtgtctgcaa	20	6	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:42436328C>T	uc001zoz.3	-	17	2082	c.1990G>A	c.(1990-1992)Gcc>Acc	p.A664T	PLA2G4F_uc010bcq.3_Intron|PLA2G4F_uc001zoy.3_Missense_Mutation_p.A296T|PLA2G4F_uc001zpa.3_Missense_Mutation_p.A415T|PLA2G4F_uc010bcr.3_Missense_Mutation_p.A415T|PLA2G4F_uc010bcs.3_Missense_Mutation_p.A451T	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	664	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TTGGGGAAGGCGTCCGGGTGT	0.572													T	42436328	C	T	42436328	3	4	4	1	0	0	0	0	1	0	0	0	12006	768	27	1	571	1	PLA2G4F	15	42436328	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	296754	42436328	60095064	3352	5417											
EPB42	2038	broad.mit.edu	37	chr15	43498659	43498659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcactgtgattaaccagcGtcactgagatctgggcatcc	10	12	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:43498659G>A	uc001zrb.4	-	9	1877	c.1577C>T	c.(1576-1578)aCg>aTg	p.T526M	EPB42_uc001zqz.4_Missense_Mutation_p.T163M|EPB42_uc001zra.4_Missense_Mutation_p.T496M|EPB42_uc010udm.2_Missense_Mutation_p.T418M	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	496					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ATTAACCAGCGTCACTGAGAT	0.582													A	43498659	G	A	43498659	3	1	4	1	0	0	0	0	1	0	0	0	5158	1145	40	1	604	1	EPB42	15	43498659	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1062331	43498659	59032733	3353	5418											
TGM5	9333	broad.mit.edu	37	chr15	43552444	43552444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggctggggctgtgatggCgtgccaggctgaacacagcc	18	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:43552444C>T	uc001zrd.2	-	2	250	c.242G>A	c.(241-243)cGc>cAc	p.R81H	TGM5_uc001zre.2_Intron	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	81					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GCTGTGATGGCGTGCCAGGCT	0.677													T	43552444	C	T	43552444	3	4	4	1	0	0	0	0	1	0	0	0	15830	768	27	1	1964	1	TGM5	15	43552444	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	53785	43552444	58978948	3354	5419											
MAP1A	4130	broad.mit.edu	37	chr15	43819858	43819858	+	Frame_Shift_Del	DEL	C	C	-													gcctcaccccacctgcagttCccccccgtgctcctatcctg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:43819857_43819857TC>T	uc001zrt.3	+	3	6653	c.6186_6186TC>T	c.(6184-6186)gttfs	p.V2062fs		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2062						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CACCTGCAGTTCCCCCCCGTG	0.612													-	43819858	C	-	43819858	7	5	4	1	0	1	0	1	0	0	0	0	9227	855	30	0	6189	0	MAP1A	15	43819858	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	267414	43819858	58711534	3355	5420											
PPIP5K1	9677	broad.mit.edu	37	chr15	43826900	43826900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctcagggacctcctggGcctgcagatcaatctcctca	8	16	5	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:43826900G>A	uc001zrw.3	-	30	4478	c.4274C>T	c.(4273-4275)gCc>gTc	p.A1425V	PPIP5K1_uc021sjw.1_Missense_Mutation_p.A1400V|PPIP5K1_uc001zrx.2_Missense_Mutation_p.A1398V|PPIP5K1_uc001zry.4_Missense_Mutation_p.A1400V|PPIP5K1_uc021sjx.1_Missense_Mutation_p.A354V	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 1 (PPIP5K1), transcript variant 5, mRNA.	1425					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						GACCTCCTGGGCCTGCAGATC	0.522													A	43826900	G	A	43826900	3	1	4	1	0	0	0	0	1	0	0	0	12332	1203	42	2	31	2	PPIP5K1	15	43826900	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	7042	43826900	58704492	3356	5421											
CATSPER2	117155	broad.mit.edu	37	chr15	43924939	43924939	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agattcagaaaatctggattCagaagaggaagaataggaag	12	3	3	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:43924939C>T	uc001zsh.3	-	10	1587	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	STRC_uc010udz.1_5'Flank|CATSPER2_uc010bdm.3_Intron|CATSPER2_uc001zsi.3_Missense_Mutation_p.E456K|CATSPER2_uc001zsj.3_Missense_Mutation_p.E456K	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	Homo sapiens cation channel, sperm associated 2 (CATSPER2), transcript variant 2, mRNA.	458	Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AATCTGGATTCAgaagaggaa	0.378													T	43924939	C	T	43924939	3	4	4	1	0	0	0	0	1	0	0	0	2688	835	29	4	232	4	CATSPER2	15	43924939	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	98039	43924939	58606453	3357	5422											
WDR76	79968	broad.mit.edu	37	chr15	44120406	44120406	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaagatgaaaaacacaTcttccaaggcagaatccacg	6	12	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:44120406T>A	uc001zti.2	+	1	423	c.304T>A	c.(304-306)Tct>Act	p.S102T	WDR76_uc021skg.1_Missense_Mutation_p.S38T	NM_024908	NP_001161413	Q9H967	WDR76_HUMAN	Homo sapiens WD repeat domain 76 (WDR76), transcript variant 1, mRNA.	102										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		GAAAAACACATCTTCCAAGGC	0.393													A	44120406	T	A	44120406	3	1	4	1	0	0	0	0	1	0	0	0	17323	1435	50	5	310	5	WDR76	15	44120406	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	195467	44120406	58410986	3358	5423											
DUOX2	50506	broad.mit.edu	37	chr15	45391910	45391910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggtggaagtccactgcgGcatcaaaaggcacatagcgg	14	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:45391910G>A	uc001zun.3	-	24	3568	c.3365C>T	c.(3364-3366)gCc>gTc	p.A1122V	DUOX2_uc010bea.3_Missense_Mutation_p.A1122V	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1122	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GTCCACTGCGGCATCAAAAGG	0.547													A	45391910	G	A	45391910	3	1	4	1	0	0	0	0	1	0	0	0	4801	1203	42	2	1321	2	DUOX2	15	45391910	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1271504	45391910	57139482	3359	5424											
SLC30A4	7782	broad.mit.edu	37	chr15	45777398	45777398	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaatttgcacaagttctgTccacttcttgcctgtaactc	6	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:45777398T>C	uc001zvj.3	-	7	1565	c.1253A>G	c.(1252-1254)gAc>gGc	p.D418G		NM_013309	NP_037441	O14863	ZNT4_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 4 (SLC30A4), mRNA.	418					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		ACAAGTTCTGTCCACTTCTTG	0.378													C	45777398	T	C	45777398	3	2	4	1	0	0	0	0	1	0	0	0	14557	1667	58	3	40	3	SLC30A4	15	45777398	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	385488	45777398	56753994	3360	5425											
SEMA6D	80031	broad.mit.edu	37	chr15	48052028	48052028	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgctttgtgcctacatactGctgctgatggtttcccagtt	9	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:48052028G>C	uc010bek.3	+	1	393	c.33G>C	c.(31-33)ctG>ctC	p.L11L	SEMA6D_uc001zvw.3_Silent_p.L11L|SEMA6D_uc001zvx.1_Silent_p.L11L|SEMA6D_uc001zvy.3_Silent_p.L11L|SEMA6D_uc001zvz.3_Silent_p.L11L|SEMA6D_uc001zwa.3_Silent_p.L11L|SEMA6D_uc001zwb.3_Silent_p.L11L|SEMA6D_uc001zwc.3_Silent_p.L11L	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	11					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CCTACATACTGCTGCTGATGG	0.502													C	48052028	G	C	48052028	2	2	4	1	0	0	0	0	0	0	0	1	14042	1306	46	5		5	SEMA6D	15	48052028	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2274630	48052028	54479364	3361	5426											
SEMA6D	80031	broad.mit.edu	37	chr15	48054484	48054484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgatggatctgcccttcGcacaataaaatatgattcca	9	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:48054484G>A	uc010bek.3	+	7	986	c.626G>A	c.(625-627)cGc>cAc	p.R209H	SEMA6D_uc001zvw.3_Missense_Mutation_p.R209H|SEMA6D_uc001zvx.1_Missense_Mutation_p.R209H|SEMA6D_uc001zvy.3_Missense_Mutation_p.R209H|SEMA6D_uc001zvz.3_Missense_Mutation_p.R209H|SEMA6D_uc001zwa.3_Missense_Mutation_p.R209H|SEMA6D_uc001zwb.3_Missense_Mutation_p.R209H|SEMA6D_uc001zwc.3_Missense_Mutation_p.R209H	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	209	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCTGCCCTTCGCACAATAAAA	0.498													A	48054484	G	A	48054484	3	1	4	1	0	0	0	0	1	0	0	0	14042	1087	38	1	652	1	SEMA6D	15	48054484	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2456	48054484	54476908	3362	5427											
SLC12A1	6557	broad.mit.edu	37	chr15	48518712	48518712	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttctttccaccatggtaaCttctattactgggttgtcaa	6	10	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:48518712C>A	uc001zwn.4	+	4	884	c.668C>A	c.(667-669)aCt>aAt	p.T223N	SLC12A1_uc010uew.1_Missense_Mutation_p.T29N|SLC12A1_uc010bem.3_Intron|SLC12A1_uc010uex.2_Missense_Mutation_p.T223N|SLC12A1_uc001zwq.4_5'UTR|SLC12A1_uc001zwr.4_5'UTR	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	223					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ACCATGGTAACTTCTATTACT	0.393													A	48518712	C	A	48518712	3	1	4	1	0	0	0	0	1	0	0	0	14382	565	20	5	682	5	SLC12A1	15	48518712	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	464228	48518712	54012680	3363	5428											
FBN1	2200	broad.mit.edu	37	chr15	48791196	48791196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttaccactgcctgctgacGtcattcctggcccactgctg	8	17	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:48791196G>A	uc001zwx.2	-	17	2548	c.2153C>T	c.(2152-2154)aCg>aTg	p.T718M		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	718					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCCTGCTGACGTCATTCCTGG	0.458													A	48791196	G	A	48791196	3	1	4	1	0	0	0	0	1	0	0	0	5702	1145	40	1	6658	1	FBN1	15	48791196	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	272484	48791196	53740196	3364	5429											
FBN1	2200	broad.mit.edu	37	chr15	48936939	48936939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcacggtaaatcccagggCgatctccagcagacgccctc	10	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:48936939C>T	uc001zwx.2	-	1	423	c.28G>A	c.(28-30)Gcc>Acc	p.A10T		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	10					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AATCCCAGGGCGATCTCCAGC	0.687													T	48936939	C	T	48936939	3	4	4	1	0	0	0	0	1	0	0	0	5702	768	27	1	8847	1	FBN1	15	48936939	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	145743	48936939	53594453	3365	5430											
SECISBP2L	9728	broad.mit.edu	37	chr15	49304895	49304895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaatttccttctcttttcCtttttttgctttagaagaag	5	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:49304895C>T	uc001zxe.2	-	11	1945	c.1681G>A	c.(1681-1683)Gga>Aga	p.G561R	SECISBP2L_uc001zxd.2_Missense_Mutation_p.G516R|SECISBP2L_uc010bep.2_Missense_Mutation_p.G323R	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	561										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TTCTCTTTTCCTTTTTTTGCT	0.333													T	49304895	C	T	49304895	3	4	4	1	0	0	0	0	1	0	0	0	14007	690	24	4	1652	4	SECISBP2L	15	49304895	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	367956	49304895	53226497	3366	5431											
C15orf33	196951	broad.mit.edu	37	chr15	49903459	49903459	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgctctttggaggttcttGcattttctaataaagtaata	7	5	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:49903459G>A	uc001zxl.2	-	2	352	c.58C>T	c.(58-60)Caa>Taa	p.Q20*	C15orf33_uc001zxm.3_Nonsense_Mutation_p.Q20*	NM_152647	NP_689860	Q96M60	CO033_HUMAN	Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA.	20								p.Q20H(1)		endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	25		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		GGAGGTTCTTGCATTTTCTAA	0.259													A	49903459	G	A	49903459	4	1	4	1	0	0	0	0	0	1	0	0	1791	1328	46	2	1524	2	C15orf33	15	49903459	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	598564	49903459	52627933	3367	5432											
DTWD1	56986	broad.mit.edu	37	chr15	49924402	49924402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatccaaatgaaacagatgGcaaaagtactgctatacatg	7	8	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:49924402G>A	uc001zxq.3	+	3	588	c.311G>A	c.(310-312)gGc>gAc	p.G104D	DTWD1_uc001zxs.3_Missense_Mutation_p.G104D|DTWD1_uc001zxr.3_Missense_Mutation_p.G17D	NM_020234	NP_064619	Q8N5C7	DTWD1_HUMAN	Homo sapiens DTW domain containing 1 (DTWD1), transcript variant 1, mRNA.	104										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		gaaaCAGATGGCAAAAGTACT	0.294													A	49924402	G	A	49924402	3	1	4	1	0	0	0	0	1	0	0	0	4791	1203	42	2	317	2	DTWD1	15	49924402	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	20943	49924402	52606990	3368	5433											
SLC27A2	11001	broad.mit.edu	37	chr15	50494717	50494717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccatgatcactcatcagcGcatatggtatggaactggcc	10	11	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:50494717G>A	uc001zxw.3	+	2	954	c.722G>A	c.(721-723)cGc>cAc	p.R241H	SLC27A2_uc010bes.3_Intron|SLC27A2_uc001zxx.3_Missense_Mutation_p.R6H	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	241					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		ACTCATCAGCGCATATGGTAT	0.428													A	50494717	G	A	50494717	3	1	4	1	0	0	0	0	1	0	0	0	14526	1087	38	1	732	1	SLC27A2	15	50494717	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	570315	50494717	52036675	3369	5434											
SCG3	29106	broad.mit.edu	37	chr15	51975601	51975601	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatcgatgattatgactctActaagagtggattggatcat	10	5	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:51975601A>G	uc002abh.3	+	3	770	c.367A>G	c.(367-369)Act>Gct	p.T123A	SCG3_uc010ufz.2_5'UTR	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	123					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TTATGACTCTACTAAGAGTGG	0.328													G	51975601	A	G	51975601	3	3	4	1	0	0	0	0	1	0	0	0	13892	391	14	3	381	3	SCG3	15	51975601	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1480884	51975601	50555791	3370	5435											
MAPK6	5597	broad.mit.edu	37	chr15	52356133	52356133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttttcagagcatgattggCctgtacataacaactttgat	8	7	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:52356133C>T	uc002abp.3	+	5	1896	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S		NM_002748	NP_002739	Q16659	MK06_HUMAN	Homo sapiens mitogen-activated protein kinase 6 (MAPK6), mRNA.	368					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GCATGATTGGCCTGTACATAA	0.363													T	52356133	C	T	52356133	3	4	4	1	0	0	0	0	1	0	0	0	9281	739	26	2	1120	2	MAPK6	15	52356133	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	380532	52356133	50175259	3371	5436											
BCL2L10	10017	broad.mit.edu	37	chr15	52402115	52402115	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagaaaagcctggaccagcTgttttctccaaaaagccagt	8	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:52402115T>C	uc002abq.3	-	1	594	c.545A>G	c.(544-546)cAg>cGg	p.Q182R		NM_020396	NP_065129	Q9HD36	B2L10_HUMAN	Homo sapiens BCL2-like 10 (apoptosis facilitator) (BCL2L10), mRNA.	172					activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		CTGGACCAGCTGTTTTCTCCA	0.438													C	52402115	T	C	52402115	3	2	4	1	0	0	0	0	1	0	0	0	1368	1580	55	3	73	3	BCL2L10	15	52402115	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	45982	52402115	50129277	3372	5437											
MYO5C	55930	broad.mit.edu	37	chr15	52497304	52497304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcctgtgggcttcaggccGgaaatgccctgcaggctctc	13	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:52497304G>A	uc010bff.3	-	37	4740	c.4578C>T	c.(4576-4578)tcC>tcT	p.S1526S	MYO5C_uc010uga.2_Non-coding_Transcript|AF007131_uc002abv.3_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1526	Dilute.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.S1526S(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GCTTCAGGCCGGAAATGCCCT	0.597													A	52497304	G	A	52497304	2	1	4	1	0	0	0	0	0	0	0	1	10080	1103	39	1		1	MYO5C	15	52497304	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	95189	52497304	50034088	3373	5438											
MYO5C	55930	broad.mit.edu	37	chr15	52571811	52571811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgaggtcattctcgcccaCgaggatgtcaggattccgaa	12	11	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:52571811C>T	uc010bff.3	-	2	361	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript|MYO5C_uc010ugc.2_Missense_Mutation_p.V30M|MIR1266_uc021smp.1_5'Flank	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	67	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.L66L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTCTCGCCCACGAGGATGTCA	0.468													T	52571811	C	T	52571811	3	4	4	1	0	0	0	0	1	0	0	0	10080	536	19	1	5185	1	MYO5C	15	52571811	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	74507	52571811	49959581	3374	5439											
CCPG1	9236	broad.mit.edu	37	chr15	55724799	55724799	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcatcaataattccagtGccttacaaaatatatataat	5	7	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:55724799G>A	uc002acy.3	-	8	1303	c.-114_splice	c.e8-1		CCPG1_uc010ugh.1_Intron|CCPG1_uc010ugi.2_Splice_Site|DYX1C1_uc002adb.3_Intron|DYX1C1_uc002adc.3_Splice_Site_p.A350_splice|DYX1C1_uc002add.3_Intron	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN	Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.						cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TAATTCCAGTGCCTTACAAAA	0.373													A	55724799	G	A	55724799	5	1	4	1	0	0	0	0	0	0	1	0	2938	1333	46	2		2	CCPG1	15	55724799	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3152988	55724799	46806593	3375	5440											
RFX7	64864	broad.mit.edu	37	chr15	56386815	56386815	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacttgagacaatgctggcGtcatgatatgccatactgga	10	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:56386815G>A	uc010bfn.3	-	8	3111	c.3111C>T	c.(3109-3111)gaC>gaT	p.D1037D	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Silent_p.D851D	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	940					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CAATGCTGGCGTCATGATATG	0.483													A	56386815	G	A	56386815	2	1	4	1	0	0	0	0	0	0	0	1	13268	1136	40	1		1	RFX7	15	56386815	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	662016	56386815	46144577	3376	5441											
GCOM1	145781	broad.mit.edu	37	chr15	57913876	57913876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagatgagacagaagattcGacagctcacccaggaactat	10	9	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:57913876G>A	uc002aei.3	+	3	520	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	GCOM1_uc002aej.3_Missense_Mutation_p.R130Q|GCOM1_uc002aek.3_Intron|GCOM1_uc002ael.3_Intron|GCOM1_uc002aem.3_Missense_Mutation_p.R130Q|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.R130Q	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	130					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						CAGAAGATTCGACAGCTCACC	0.468													A	57913876	G	A	57913876	3	1	4	1	0	0	0	0	1	0	0	0	6304	1058	37	1	403	1	GCOM1	15	57913876	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1527061	57913876	44617516	3377	5442											
GCOM1	145781	broad.mit.edu	37	chr15	57929897	57929897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctgtttgttttaggaacGtcatcaactgcaacttcaac	6	9	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:57929897G>A	uc002aei.3	+	8	1069	c.938G>A	c.(937-939)cGt>cAt	p.R313H	GCOM1_uc002aej.3_Missense_Mutation_p.R313H|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.R313H|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.R313H	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	313					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TTTTAGGAACGTCATCAACTG	0.383													A	57929897	G	A	57929897	3	1	4	1	0	0	0	0	1	0	0	0	6304	1145	40	1	972	1	GCOM1	15	57929897	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	16021	57929897	44601495	3378	5443											
ALDH1A2	8854	broad.mit.edu	37	chr15	58357819	58357819	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggggtcggccttcacctcGccgggcatctctatcttgct	12	15	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:58357819G>A	uc002aex.3	-	0	303	c.30C>T	c.(28-30)ggC>ggT	p.G10G	ALDH1A2_uc010ugv.2_5'UTR|ALDH1A2_uc002aey.3_Silent_p.G10G|ALDH1A2_uc010ugw.2_Intron	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	10					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CCTTCACCTCGCCGGGCATCT	0.706													A	58357819	G	A	58357819	2	1	4	1	0	0	0	0	0	0	0	1	491	1074	38	1		1	ALDH1A2	15	58357819	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	427922	58357819	44173573	3379	5444											
RNF111	54778	broad.mit.edu	37	chr15	59323599	59323599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactgagacagaatctgtatCgggattgttaatgaaaagac	11	5	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:59323599C>T	uc002afv.3	+	1	857	c.578C>T	c.(577-579)tCg>tTg	p.S193L	RNF111_uc002afs.3_Missense_Mutation_p.S193L|RNF111_uc002aft.3_Missense_Mutation_p.S193L|RNF111_uc002afu.3_Missense_Mutation_p.S193L|RNF111_uc002afw.3_Missense_Mutation_p.S193L	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	193					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GAATCTGTATCGGGATTGTTA	0.423													T	59323599	C	T	59323599	3	4	4	1	0	0	0	0	1	0	0	0	13425	893	31	1	580	1	RNF111	15	59323599	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	965780	59323599	43207793	3380	5445											
LDHAL6B	92483	broad.mit.edu	37	chr15	59499582	59499582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattatcacagcaggtgcacGccaagaaaagggagaaacgc	12	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:59499582G>A	uc002agb.3	+	0	541	c.443G>A	c.(442-444)cGc>cAc	p.R148H	MYO1E_uc002aga.3_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	Homo sapiens lactate dehydrogenase A-like 6B (LDHAL6B), mRNA.	148					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GCAGGTGCACGCCAAGAAAAG	0.438													A	59499582	G	A	59499582	3	1	4	1	0	0	0	0	1	0	0	0	8700	1087	38	1	445	1	LDHAL6B	15	59499582	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	175983	59499582	43031810	3381	5446											
TLN2	83660	broad.mit.edu	37	chr15	63009877	63009877	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcccagcagcagctggtcCagagttgcaaggtgaggttc	15	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:63009877C>T	uc002alb.4	+	20	2866	c.2866C>T	c.(2866-2868)Cag>Tag	p.Q956*		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	956	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCAGCTGGTCCAGAGTTGCAA	0.577													T	63009877	C	T	63009877	4	4	4	1	0	0	0	0	0	1	0	0	15945	595	21	4	2948	4	TLN2	15	63009877	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3510295	63009877	39521515	3382	5447											
TLN2	83660	broad.mit.edu	37	chr15	63019352	63019352	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcctccatggcacagctgCtgacctgtgctgctcaaggc	11	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:63019352C>T	uc002alb.4	+	24	3322	c.3322C>T	c.(3322-3324)Ctg>Ttg	p.L1108L		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1108	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GGCACAGCTGCTGACCTGTGC	0.562													T	63019352	C	T	63019352	2	4	4	1	0	0	0	0	0	0	0	1	15945	796	28	2		2	TLN2	15	63019352	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	9475	63019352	39512040	3383	5448											
TLN2	83660	broad.mit.edu	37	chr15	63092928	63092928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacccggggcaccagggCgcttgaggccacaattgaat	14	13	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:63092928C>T	uc002alb.4	+	46	6437	c.6437C>T	c.(6436-6438)gCg>gTg	p.A2146V	TLN2_uc002alc.4_Missense_Mutation_p.A539V	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	2146					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.A2146V(2)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GGCACCAGGGCGCTTGAGGCC	0.557													T	63092928	C	T	63092928	3	4	4	1	0	0	0	0	1	0	0	0	15945	768	27	1	6623	1	TLN2	15	63092928	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	73576	63092928	39438464	3384	5449											
HERC1	8925	broad.mit.edu	37	chr15	63943555	63943555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggatcactgggtgatccCaggctttcctcagcatcccc	9	15	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:63943555C>T	uc002amp.3	-	52	10591	c.10443G>A	c.(10441-10443)ctG>ctA	p.L3481L		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	3481					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGGGTGATCCCAGGCTTTCCT	0.408													T	63943555	C	T	63943555	2	4	4	1	0	0	0	0	0	0	0	1	7057	581	21	4		4	HERC1	15	63943555	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	850627	63943555	38587837	3385	5450											
TRIP4	9325	broad.mit.edu	37	chr15	64701939	64701939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgagagaacttcgacacGcctctcgactttctaagaag	9	11	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:64701939G>A	uc002anm.3	+	6	1015	c.955G>A	c.(955-957)Gcc>Acc	p.A319T		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 4 (TRIP4), mRNA.	319					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						ACTTCGACACGCCTCTCGACT	0.463													A	64701939	G	A	64701939	3	1	4	1	0	0	0	0	1	0	0	0	16555	1087	38	1	981	1	TRIP4	15	64701939	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	758384	64701939	37829453	3386	5451											
ZNF609	23060	broad.mit.edu	37	chr15	64966631	64966631	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catacagatgatgacagcaaGccggaagcggatggggacag	15	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:64966631G>A	uc002ann.3	+	3	1578	c.1578G>A	c.(1576-1578)aaG>aaA	p.K526K		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	526						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGACAGCAAGCCGGAAGCGG	0.493													A	64966631	G	A	64966631	2	1	4	1	0	0	0	0	0	0	0	1	18032	962	34	2		2	ZNF609	15	64966631	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	264692	64966631	37564761	3387	5452											
PIF1	80119	broad.mit.edu	37	chr15	65114700	65114700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcccagtgaagaagatgCtctggcctttcaggacggcc	11	13	2	3	rs139868280	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:65114700C>T	uc002ant.2	-	2	734	c.668G>A	c.(667-669)aGc>aAc	p.S223N	PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Missense_Mutation_p.S223N|PIF1_uc002anu.3_Missense_Mutation_p.S223N	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	223	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						GAAGAAGATGCTCTGGCCTTT	0.602													T	65114700	C	T	65114700	3	4	4	1	0	0	0	0	1	0	0	0	11883	797	28	2	1301	2	PIF1	15	65114700	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	148069	65114700	37416692	3388	5453											
DPP8	54878	broad.mit.edu	37	chr15	65790263	65790263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttagatatccaaatatcGttgctatgtataaaagcaat	6	5	0	1	rs147893429		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:65790263G>A	uc002aov.3	-	4	2280	c.702C>T	c.(700-702)aaC>aaT	p.N234N	DPP8_uc002aow.3_Silent_p.N234N|DPP8_uc010uiv.2_Non-coding_Transcript|DPP8_uc021soz.1_Silent_p.N218N|DPP8_uc002aox.3_Silent_p.N218N|DPP8_uc002aoy.3_Silent_p.N234N|DPP8_uc002aoz.3_Silent_p.N218N|DPP8_uc010bhj.3_Silent_p.N234N	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	Homo sapiens dipeptidyl-peptidase 8 (DPP8), transcript variant 1, mRNA.	234					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCCAAATATCGTTGCTATGTA	0.398													A	65790263	G	A	65790263	2	1	4	1	0	0	0	0	0	0	0	1	4732	1136	40	1		1	DPP8	15	65790263	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	675563	65790263	36741129	3389	5454											
C15orf44	81556	broad.mit.edu	37	chr15	65892135	65892135	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaattcgccatgcacaTgatatataacttagatggga	7	9	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:65892135T>C	uc010uix.2	-	3	959	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	C15orf44_uc002apd.3_Missense_Mutation_p.M155V|C15orf44_uc010uja.2_Missense_Mutation_p.M138V|C15orf44_uc010ujb.2_Missense_Mutation_p.M98V|C15orf44_uc002ape.4_Missense_Mutation_p.M155V|C15orf44_uc010uiy.2_Missense_Mutation_p.M76V|C15orf44_uc010uiz.2_Missense_Mutation_p.M119V|C15orf44_uc010ujc.2_Missense_Mutation_p.M187V			Q96SY0	CO044_HUMAN	Homo sapiens chromosome 15 open reading frame 44 (C15orf44), transcript variant 3, non-coding RNA.	155	VWFA.									breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						GCCATGCACATGATATATAAC	0.383													C	65892135	T	C	65892135	3	2	4	1	0	0	0	0	1	0	0	0	1798	1464	51	3	1129	3	C15orf44	15	65892135	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	101872	65892135	36639257	3390	5455											
RAB11A	8766	broad.mit.edu	37	chr15	66180171	66180171	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtgcagtgctgtcagaAcatctaaggcatttctcttc	9	9	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:66180171A>G	uc002apk.3	+	4	771	c.644A>G	c.(643-645)aAc>aGc	p.N215S	RAB11A_uc010ujk.2_3'UTR	NM_004663	NP_004654	P62491	RB11A_HUMAN	Homo sapiens RAB11A, member RAS oncogene family (RAB11A), transcript variant 1, mRNA.	215					cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						TGCTGTCAGAACATCTAAGGC	0.413													G	66180171	A	G	66180171	3	3	4	1	0	0	0	0	1	0	0	0	12891	43	2	3	662	3	RAB11A	15	66180171	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	288036	66180171	36351221	3391	5456											
MEGF11	84465	broad.mit.edu	37	chr15	66416298	66416298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgtgtgtaatagatctgatCgaaggggtgtgcatacgatt	13	5	1	2	rs142845610	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:66416298C>T	uc002apm.2	-	2	280	c.139G>A	c.(139-141)Gat>Aat	p.D47N	MEGF11_uc002apl.2_Silent_p.S5S|MEGF11_uc002apn.1_Missense_Mutation_p.D47N	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	47	EMI.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TAGATCTGATCGAAGGGGTGT	0.507													T	66416298	C	T	66416298	3	4	4	1	0	0	0	0	1	0	0	0	9461	884	31	1	3079	1	MEGF11	15	66416298	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	236127	66416298	36115094	3392	5457											
ZWILCH	55055	broad.mit.edu	37	chr15	66813467	66813467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcacagcatcacaaactgCgatcgctttggatatttcct	6	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:66813467C>T	uc002aqb.3	+	6	917	c.671C>T	c.(670-672)gCg>gTg	p.A224V	RPL4_uc002apx.3_Intron|ZWILCH_uc010bhu.1_Missense_Mutation_p.A110V|ZWILCH_uc002aqa.3_Missense_Mutation_p.A110V|ZWILCH_uc010bhv.3_Missense_Mutation_p.A110V	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN	Homo sapiens Zwilch, kinetochore associated, homolog (Drosophila) (ZWILCH), transcript variant 1, mRNA.	224					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TCACAAACTGCGATCGCTTTG	0.458													T	66813467	C	T	66813467	3	4	4	1	0	0	0	0	1	0	0	0	18245	768	27	1	697	1	ZWILCH	15	66813467	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	397169	66813467	35717925	3393	5458											
LCTL	197021	broad.mit.edu	37	chr15	66844070	66844070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactgaagcctttggatagCgaggcttatttctgtcgtta	11	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:66844070C>T	uc002aqc.3	-	10	1586	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H	LCTL_uc002aqd.4_Missense_Mutation_p.R312H|LCTL_uc010bhw.3_Intron	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	Homo sapiens lactase-like (LCTL), mRNA.	485					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTTGGATAGCGAGGCTTATT	0.373													T	66844070	C	T	66844070	3	4	4	1	0	0	0	0	1	0	0	0	8694	768	27	1	261	1	LCTL	15	66844070	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	30603	66844070	35687322	3394	5459											
PIAS1	8554	broad.mit.edu	37	chr15	68438921	68438921	+	Frame_Shift_Del	DEL	A	A	-													tagggttaccttccacctacAaaaaatggcgtggaaccaaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:68438921delA	uc002aqz.2	+	6	807	c.711delA	c.(709-711)ACAfs	p.T237fs	PIAS1_uc010ujx.1_Frame_Shift_Del_p.T237fs	NM_016166	NP_057250	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	237	PINIT.				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						TTCCACCTACAAAAAATGGCG	0.378													-	68438921	A	-	68438921	7	5	4	1	0	1	0	1	0	0	0	0	11875	117	5	0	733	0	PIAS1	15	68438921	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	1594851	68438921	34092471	3395	5460											
CLN6	54982	broad.mit.edu	37	chr15	68500592	68500592	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagccaggcgacccagagCgccacaagcaagagggtcag	13	14	1	2	rs151186473	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:68500592C>T	uc010ujz.2	-	6	1156	c.918G>A	c.(916-918)gcG>gcA	p.A306A	CALML4_uc002arb.3_5'Flank|CALML4_uc002arc.3_5'Flank|CALML4_uc002ard.3_5'Flank|CALML4_uc002are.3_5'Flank|CALML4_uc010bhz.3_5'Flank|CLN6_uc002arf.3_Silent_p.A274A|CLN6_uc010ujy.2_Silent_p.A145A	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6), mRNA.	274					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CGACCCAGAGCGCCACAAGCA	0.602													T	68500592	C	T	68500592	2	4	4	1	0	0	0	0	0	0	0	1	3545	755	27	1		1	CLN6	15	68500592	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	61671	68500592	34030800	3396	5461											
NOX5	79400	broad.mit.edu	37	chr15	69331226	69331226	+	Frame_Shift_Del	DEL	T	T	-													ctcctcatcaagcggcccccTttttttcactatagacctgg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:69331225_69331225CT>C	uc002ars.2	+	8	1441	c.1400_1400CT>C	c.(1399-1401)cctfs	p.P467fs	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Frame_Shift_Del_p.P421fs|NOX5_uc002arp.2_Frame_Shift_Del_p.P449fs|NOX5_uc010bid.2_Frame_Shift_Del_p.P432fs|NOX5_uc010bie.2_Frame_Shift_Del_p.P267fs|NOX5_uc002arr.2_Frame_Shift_Del_p.P439fs|NOX5_uc010bif.2_Intron	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	467	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AAGCGGCCCCCTTTTTTTCAC	0.542													-	69331226	T	-	69331226	7	5	4	1	0	1	0	1	0	0	0	0	10559	1596	56	0	1468	0	NOX5	15	69331226	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	830634	69331226	33200166	3397	5462											
KIF23	9493	broad.mit.edu	37	chr15	69728955	69728955	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccacctttgccatcatgCgaaattttggatatcaacga	6	10	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:69728955C>T	uc002asb.3	+	13	1627	c.1449C>T	c.(1447-1449)tgC>tgT	p.C483C	KIF23_uc002asc.3_Silent_p.C483C|KIF23_uc010bii.3_Silent_p.C373C|KIF23_uc010ukc.2_Silent_p.C300C	NM_138555	NP_612565	Q02241	KIF23_HUMAN	Homo sapiens kinesin family member 23 (KIF23), transcript variant 1, mRNA.	483					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TGCCATCATGCGAAATTTTGG	0.363													T	69728955	C	T	69728955	2	4	4	1	0	0	0	0	0	0	0	1	8291	776	27	1		1	KIF23	15	69728955	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	397729	69728955	32802437	3398	5463											
TLE3	7090	broad.mit.edu	37	chr15	70346947	70346947	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggtcccagatggtgagCgtgctggcctcgccgcccac	14	16	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:70346947C>T	uc002asl.2	-	14	1966	c.1665G>A	c.(1663-1665)acG>acA	p.T555T	TLE3_uc002ask.2_Silent_p.T482T|TLE3_uc010ukd.1_Silent_p.T545T|TLE3_uc010bil.1_Silent_p.T552T|TLE3_uc002asn.2_Silent_p.T543T|TLE3_uc002asm.2_Silent_p.T555T|TLE3_uc002asp.2_Silent_p.T547T|TLE3_uc002aso.2_Silent_p.T550T	NM_001105192	NP_001098662	Q04726	TLE3_HUMAN	Homo sapiens transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) (TLE3), transcript variant 2, mRNA.	555					Wnt receptor signaling pathway|organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGATGGTGAGCGTGCTGGCCT	0.667													T	70346947	C	T	70346947	2	4	4	1	0	0	0	0	0	0	0	1	15937	755	27	1		1	TLE3	15	70346947	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	617992	70346947	32184445	3399	5464											
LRRC49	54839	broad.mit.edu	37	chr15	71305222	71305222	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttctgagttaccccagtAtcgtctgatttccattctgg	7	11	4	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:71305222A>G	uc010ukf.2	+	13	1994	c.1688A>G	c.(1687-1689)tAt>tGt	p.Y563C	LRRC49_uc002asu.3_Missense_Mutation_p.Y548C|LRRC49_uc002asx.3_Missense_Mutation_p.Y514C|LRRC49_uc002asw.3_Missense_Mutation_p.Y558C|LRRC49_uc002asy.3_Missense_Mutation_p.Y264C|LRRC49_uc002asz.3_Missense_Mutation_p.Y530C	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	558						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TTACCCCAGTATCGTCTGATT	0.363													G	71305222	A	G	71305222	3	3	4	1	0	0	0	0	1	0	0	0	9006	449	16	3	1727	3	LRRC49	15	71305222	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	958275	71305222	31226170	3400	5465											
THSD4	79875	broad.mit.edu	37	chr15	71549040	71549040	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccggttttatgagtgggAaccatttgcagaaggtaaga	15	5	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:71549040A>G	uc002atb.1	+	4	1080	c.1001A>G	c.(1000-1002)gAa>gGa	p.E334G	THSD4_uc002atd.1_Missense_Mutation_p.E8G	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	334						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TATGAGTGGGAACCATTTGCA	0.433													G	71549040	A	G	71549040	3	3	4	1	0	0	0	0	1	0	0	0	15875	246	9	3	1019	3	THSD4	15	71549040	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	243818	71549040	30982352	3401	5466											
MYO9A	4649	broad.mit.edu	37	chr15	72119009	72119009	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttctgcggccagacatgActgtcccctctggggtctct	10	13	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:72119009A>G	uc002atl.4	-	41	8032	c.7559T>C	c.(7558-7560)gTc>gCc	p.V2520A	MYO9A_uc002atk.3_Missense_Mutation_p.V1315A	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	2520					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCCAGACATGACTGTCCCCTC	0.458													G	72119009	A	G	72119009	3	3	4	1	0	0	0	0	1	0	0	0	10084	275	10	3	91	3	MYO9A	15	72119009	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	569969	72119009	30412383	3402	5467											
PKM2	5315	broad.mit.edu	37	chr15	72494822	72494822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttggtgaggacgattatgGccccactgcagcacttgaag	12	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:72494822G>A	uc002aty.2	-	8	1564	c.1280C>T	c.(1279-1281)gCc>gTc	p.A427V	PKM2_uc002atr.1_5'UTR|PKM2_uc010bit.1_Intron|PKM2_uc010uki.2_Intron|PKM2_uc002atx.2_Intron|PKM2_uc002atw.2_Intron|PKM2_uc010ukj.2_Missense_Mutation_p.A412V|PKM2_uc010ukk.2_Missense_Mutation_p.A353V|PKM2_uc002atv.2_Intron|PKM2_uc010biu.1_Intron	NM_002654	NP_002645	P14618	KPYM_HUMAN	Homo sapiens pyruvate kinase, muscle (PKM2), transcript variant 1, mRNA.	427	Interaction with POU5F1.|Intersubunit contact.				glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|prostate(1)	13					Pyruvic acid(DB00119)	GACGATTATGGCCCCACTGCA	0.642													A	72494822	G	A	72494822	3	1	4	1	0	0	0	0	1	0	0	0	11977	1203	42	2	327	2	PKM2	15	72494822	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	375813	72494822	30036570	3403	5468											
PARP6	56965	broad.mit.edu	37	chr15	72549731	72549731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagctccagacatgacGcccagtgtgtagaaggagaa	12	10	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:72549731G>A	uc002auc.3	-	11	1416	c.957C>T	c.(955-957)ggC>ggT	p.G319G	PARP6_uc002aua.3_Silent_p.G164G|PARP6_uc002aub.3_Non-coding_Transcript|PARP6_uc002aud.4_Non-coding_Transcript|PARP6_uc002auf.1_Silent_p.G319G	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA.	319							NAD+ ADP-ribosyltransferase activity	p.G319G(2)|p.L318L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CAGACATGACGCCCAGTGTGT	0.527													A	72549731	G	A	72549731	2	1	4	1	0	0	0	0	0	0	0	1	11464	1074	38	1		1	PARP6	15	72549731	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	54909	72549731	29981661	3404	5469											
TMEM202	338949	broad.mit.edu	37	chr15	72691176	72691176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctggtgatcaagaatggCcttgagctctacgcaggact	11	9	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:72691176C>T	uc002auq.3	+	1	264	c.264C>T	c.(262-264)ggC>ggT	p.G88G	TMEM202_uc002aur.3_Intron	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	Homo sapiens transmembrane protein 202 (TMEM202), mRNA.	88						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TCAAGAATGGCCTTGAGCTCT	0.532													T	72691176	C	T	72691176	2	4	4	1	0	0	0	0	0	0	0	1	16124	726	26	2		2	TMEM202	15	72691176	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	141445	72691176	29840216	3405	5470											
NEO1	4756	broad.mit.edu	37	chr15	73528822	73528822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaccttacctactctgtgTtctacaccaaggaagggatt	7	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:73528822T>C	uc002avm.4	+	7	1618	c.1426T>C	c.(1426-1428)Ttc>Ctc	p.F476L	NEO1_uc010ukx.2_Missense_Mutation_p.F476L|NEO1_uc010uky.2_Missense_Mutation_p.F476L|NEO1_uc002avn.4_Missense_Mutation_p.F496L|NEO1_uc010ukz.2_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	476	Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTACTCTGTGTTCTACACCAA	0.557													C	73528822	T	C	73528822	3	2	4	1	0	0	0	0	1	0	0	0	10336	1725	60	3	1456	3	NEO1	15	73528822	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	837646	73528822	29002570	3406	5471											
NEO1	4756	broad.mit.edu	37	chr15	73542042	73542042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttccacaccagatgttgCtgttcgaacattgtcagatg	9	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:73542042C>T	uc002avm.4	+	10	2066	c.1874C>T	c.(1873-1875)gCt>gTt	p.A625V	NEO1_uc010ukx.2_Missense_Mutation_p.A625V|NEO1_uc010uky.2_Missense_Mutation_p.A625V|NEO1_uc002avn.4_Missense_Mutation_p.A645V|NEO1_uc010ukz.2_Missense_Mutation_p.A49V	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	625	Fibronectin type-III 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCAGATGTTGCTGTTCGAACA	0.423													T	73542042	C	T	73542042	3	4	4	1	0	0	0	0	1	0	0	0	10336	797	28	2	1916	2	NEO1	15	73542042	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	13220	73542042	28989350	3407	5472											
ISLR2	57611	broad.mit.edu	37	chr15	74426148	74426148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtgccaaggaggcgggCgtctacacttgccgtgcaca	14	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:74426148C>T	uc002axd.3	+	3	1822	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	ISLR2_uc002axe.3_Silent_p.G351G|ISLR2_uc010bjg.3_Silent_p.G351G|ISLR2_uc010bjf.3_Silent_p.G351G|ISLR2_uc021sqe.1_Silent_p.G351G	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	351	Ig-like.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						AGGAGGCGGGCGTCTACACTT	0.687													T	74426148	C	T	74426148	2	4	4	1	0	0	0	0	0	0	0	1	7859	755	27	1		1	ISLR2	15	74426148	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	884106	74426148	28105244	3408	5473											
CLK3	1198	broad.mit.edu	37	chr15	74919715	74919715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatgagaatcagctgacCcatacagacttgaaaccaga	8	11	1	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:74919715C>T	uc010uln.2	+	7	1745	c.1284C>T	c.(1282-1284)acC>acT	p.T428T	CLK3_uc002ayg.4_Silent_p.T280T|CLK3_uc002ayh.4_Silent_p.T59T|CLK3_uc002ayj.4_Silent_p.T257T|CLK3_uc002ayk.4_Silent_p.T207T|CLK3_uc002ayl.4_Silent_p.T113T	NM_001130028	NP_003983	P49761	CLK3_HUMAN	Homo sapiens CDC-like kinase 3 (CLK3), transcript variant 1, mRNA.	428	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						ATCAGCTGACCCATACAGACT	0.507													T	74919715	C	T	74919715	2	4	4	1	0	0	0	0	0	0	0	1	3538	610	22	4		4	CLK3	15	74919715	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	493567	74919715	27611677	3409	5474											
SCAMP5	192683	broad.mit.edu	37	chr15	75311250	75311250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacgcagccatgggggcaGcccagggtgccatgaatcag	15	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:75311250G>A	uc002azn.2	+	6	845	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	SCAMP5_uc002azl.2_Missense_Mutation_p.A212T|SCAMP5_uc002azm.2_Missense_Mutation_p.A212T|SCAMP5_uc002azk.2_Missense_Mutation_p.A212T|SCAMP5_uc010uly.2_Missense_Mutation_p.A141T	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.	212					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						CATGGGGGCAGCCCAGGGTGC	0.587													A	75311250	G	A	75311250	3	1	4	1	0	0	0	0	1	0	0	0	13874	971	34	2	656	2	SCAMP5	15	75311250	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	391535	75311250	27220142	3410	5475											
C15orf39	56905	broad.mit.edu	37	chr15	75499456	75499456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcccagcaccctctccagGcctcaagctggagccgcctc	8	20	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:75499456G>A	uc002azp.4	+	1	1387	c.1067G>A	c.(1066-1068)gGc>gAc	p.G356D	C15orf39_uc002azq.4_Missense_Mutation_p.G356D|C15orf39_uc021sqm.1_Missense_Mutation_p.G115D|C15orf39_uc002azr.4_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	356										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCCTCTCCAGGCCTCAAGCTG	0.627													A	75499456	G	A	75499456	3	1	4	1	0	0	0	0	1	0	0	0	1793	1203	42	2	1069	2	C15orf39	15	75499456	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	188206	75499456	27031936	3411	5476											
SIN3A	25942	broad.mit.edu	37	chr15	75664419	75664419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtggtacagggcaccagGccctccagcccctcacccat	11	17	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:75664419G>A	uc002bai.3	-	20	3982	c.3723C>T	c.(3721-3723)ggC>ggT	p.G1241G	SIN3A_uc002baj.3_Silent_p.G1241G|SIN3A_uc010uml.2_Silent_p.G1241G	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	1241					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AGGGCACCAGGCCCTCCAGCC	0.527													A	75664419	G	A	75664419	2	1	4	1	0	0	0	0	0	0	0	1	14325	1190	42	2		2	SIN3A	15	75664419	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	164963	75664419	26866973	3412	5477											
SIN3A	25942	broad.mit.edu	37	chr15	75684749	75684749	+	Frame_Shift_Del	DEL	A	A	-													agaatctggtgcagtcgcatAaaaatataccagttgttgtt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:75684748_75684748TA>T	uc002bai.3	-	14	2945	c.2686_2686TA>A	c.(2686-2688)atgfs	p.M896fs	SIN3A_uc002baj.3_Frame_Shift_Del_p.M896fs|SIN3A_uc010uml.2_Frame_Shift_Del_p.M896fs	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	896					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TGCAGTCGCATAAAAATATAC	0.423													-	75684749	A	-	75684749	7	5	4	1	0	1	0	1	0	0	0	0	14325	359	13	0	1164	0	SIN3A	15	75684749	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	20330	75684749	26846643	3413	5478											
SIN3A	25942	broad.mit.edu	37	chr15	75692389	75692389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagcttgtacctcaaagcGttcatcttcacaacgataaa	5	11	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:75692389G>A	uc002bai.3	-	11	2105	c.1846C>T	c.(1846-1848)Cgc>Tgc	p.R616C	SIN3A_uc002baj.3_Missense_Mutation_p.R616C|SIN3A_uc010uml.2_Missense_Mutation_p.R616C	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	616	Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ACCTCAAAGCGTTCATCTTCA	0.433													A	75692389	G	A	75692389	3	1	4	1	0	0	0	0	1	0	0	0	14325	1145	40	1	2015	1	SIN3A	15	75692389	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	7640	75692389	26839003	3414	5479											
SNX33	257364	broad.mit.edu	37	chr15	75949483	75949483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgatgcagaactacttgcGccagcagatcctcttctacc	7	14	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:75949483G>A	uc002bau.3	+	1	1748	c.1652G>A	c.(1651-1653)cGc>cAc	p.R551H	SNX33_uc002bav.3_Missense_Mutation_p.R164H	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	Homo sapiens sorting nexin 33 (SNX33), mRNA.	551	BAR.				cell communication		phosphatidylinositol binding|protein binding	p.R551H(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						AACTACTTGCGCCAGCAGATC	0.627													A	75949483	G	A	75949483	3	1	4	1	0	0	0	0	1	0	0	0	14903	1087	38	1	1658	1	SNX33	15	75949483	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	257094	75949483	26581909	3415	5480											
CSPG4	1464	broad.mit.edu	37	chr15	75968093	75968093	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcagtcaggacctggacgTcatgcttgcccgtcttgttg	13	11	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:75968093T>C	uc002baw.3	-	9	6860	c.6767A>G	c.(6766-6768)gAc>gGc	p.D2256G		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	2256					angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GACCTGGACGTCATGCTTGCC	0.617													C	75968093	T	C	75968093	3	2	4	1	0	0	0	0	1	0	0	0	3960	1667	58	3	205	3	CSPG4	15	75968093	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	18610	75968093	26563299	3416	5481											
CSPG4	1464	broad.mit.edu	37	chr15	75968836	75968836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaggcaaagaccacctcGccctggtctatctggaattg	11	11	2	2	rs150399169		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:75968836G>A	uc002baw.3	-	9	6117	c.6024C>T	c.(6022-6024)ggC>ggT	p.G2008G		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	2008	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.G2008G(2)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGACCACCTCGCCCTGGTCTA	0.597													A	75968836	G	A	75968836	2	1	4	1	0	0	0	0	0	0	0	1	3960	1074	38	1		1	CSPG4	15	75968836	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	743	75968836	26562556	3417	5482											
FBXO22	26263	broad.mit.edu	37	chr15	76205620	76205620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtctggaagagtgtcgtgGccataagagaggtaaatatc	13	5	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:76205620G>A	uc002bbk.3	+	2	461	c.356G>A	c.(355-357)gGc>gAc	p.G119D	FBXO22_uc002bbj.2_Missense_Mutation_p.G119D|FBXO22_uc002bbl.3_Missense_Mutation_p.G15D	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.	119					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAGTGTCGTGGCCATAAGAGA	0.353													A	76205620	G	A	76205620	3	1	4	1	0	0	0	0	1	0	0	0	5734	1203	42	2	366	2	FBXO22	15	76205620	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	236784	76205620	26325772	3418	5483											
SCAPER	49855	broad.mit.edu	37	chr15	76696913	76696913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattgcatgtaagagtcctGcggcatgctgcagaaatatg	11	8	0	2	rs149493455	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:76696913G>A	uc002bby.3	-	25	3478	c.3419C>T	c.(3418-3420)gCa>gTa	p.A1140V	SCAPER_uc010bkr.3_Missense_Mutation_p.A448V|SCAPER_uc002bbx.3_Missense_Mutation_p.A894V|SCAPER_uc002bbz.1_Missense_Mutation_p.A1011V	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	1139						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TAAGAGTCCTGCGGCATGCTG	0.478													A	76696913	G	A	76696913	3	1	4	1	0	0	0	0	1	0	0	0	13878	1319	46	2	807	2	SCAPER	15	76696913	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	491293	76696913	25834479	3419	5484											
ACSBG1	23205	broad.mit.edu	37	chr15	78466056	78466056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcgatggcctggtacacGgcctcatccttcttctctat	7	14	4	0	rs149258367	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:78466056G>A	uc002bdh.3	-	12	2174	c.1968C>T	c.(1966-1968)gcC>gcT	p.A656A	ACSBG1_uc010umx.2_Silent_p.A414A|ACSBG1_uc010umw.2_Silent_p.A652A	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	656					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CCTGGTACACGGCCTCATCCT	0.567													A	78466056	G	A	78466056	2	1	4	1	0	0	0	0	0	0	0	1	173	1103	39	1		1	ACSBG1	15	78466056	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1769143	78466056	24065336	3420	5485											
DNAJA4	55466	broad.mit.edu	37	chr15	78566648	78566648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtacagcagatccagacCgtgtgcatcgagtgcaaggg	14	9	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:78566648C>T	uc002bdi.3	+	4	784	c.615C>T	c.(613-615)acC>acT	p.T205T	DNAJA4_uc002bdj.2_Silent_p.T176T|DNAJA4_uc002bdk.3_Silent_p.T149T|DNAJA4_uc002bdl.3_Silent_p.T91T|DNAJA4_uc002bdm.2_5'Flank	NM_018602	NP_001123654	Q8WW22	DNJA4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 4 (DNAJA4), transcript variant 1, mRNA.	176					protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	p.R204C(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						AGATCCAGACCGTGTGCATCG	0.622													T	78566648	C	T	78566648	2	4	4	1	0	0	0	0	0	0	0	1	4614	639	23	1		1	DNAJA4	15	78566648	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	100592	78566648	23964744	3421	5486											
CRABP1	1381	broad.mit.edu	37	chr15	78635882	78635882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaacaagatccactgcacGcaaactcttcttgaagggga	10	10	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:78635882G>A	uc002bdp.2	+	2	396	c.291G>A	c.(289-291)acG>acA	p.T97T		NM_004378	NP_004369	P29762	RABP1_HUMAN	Homo sapiens cellular retinoic acid binding protein 1 (CRABP1), mRNA.	97					multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity	p.T97T(2)		breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Etretinate(DB00926)	TCCACTGCACGCAAACTCTTC	0.512													A	78635882	G	A	78635882	2	1	4	1	0	0	0	0	0	0	0	1	3843	1074	38	1		1	CRABP1	15	78635882	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	69234	78635882	23895510	3422	5487											
CTSH	1512	broad.mit.edu	37	chr15	79229690	79229690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggttcccattgttgtgggCgtttatcttcctccagttgc	11	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:79229690C>T	uc021srk.1	-	2	296	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	CTSH_uc010unf.1_Non-coding_Transcript|CTSH_uc010ung.1_Missense_Mutation_p.A67T	NM_004390	NP_004381	P09668	CATH_HUMAN	Homo sapiens cathepsin H (CTSH), mRNA.	67					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						TTGTTGTGGGCGTTTATCTTC	0.512													T	79229690	C	T	79229690	3	4	4	1	0	0	0	0	1	0	0	0	4036	768	27	1	848	1	CTSH	15	79229690	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	593808	79229690	23301702	3423	5488											
RASGRF1	5923	broad.mit.edu	37	chr15	79382811	79382811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcccagggacgcgacgtgGccatcattcagccggatccc	12	15	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:79382811G>A	uc002beq.3	-	0	405	c.30C>T	c.(28-30)ggC>ggT	p.G10G	RASGRF1_uc002bep.3_Silent_p.G10G|RASGRF1_uc002ber.4_Silent_p.G10G	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	10					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ACGCGACGTGGCCATCATTCA	0.642													A	79382811	G	A	79382811	2	1	4	1	0	0	0	0	0	0	0	1	13072	1190	42	2		2	RASGRF1	15	79382811	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	153121	79382811	23148581	3424	5489											
KIAA1024	23251	broad.mit.edu	37	chr15	79749839	79749839	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgacctggagaagcatgaAccagtcaaaaagtttaaaga	10	6	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:79749839A>G	uc002bew.1	+	1	1425	c.1350A>G	c.(1348-1350)gaA>gaG	p.E450E	KIAA1024_uc010unk.1_Silent_p.E450E	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	450						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AGAAGCATGAACCAGTCAAAA	0.493													G	79749839	A	G	79749839	2	3	4	1	0	0	0	0	0	0	0	1	8205	40	2	3		3	KIAA1024	15	79749839	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	367028	79749839	22781553	3425	5490											
ZFAND6	54469	broad.mit.edu	37	chr15	80423565	80423565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccatctgaagagcaaagCaagtctcttgaaaaaccgaa	8	10	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:80423565C>T	uc002bfe.2	+	5	830	c.408C>T	c.(406-408)agC>agT	p.S136S	ZFAND6_uc021srv.1_Intron|ZFAND6_uc021srw.1_Silent_p.S136S|ZFAND6_uc002bfg.2_Silent_p.S124S|ZFAND6_uc002bff.2_Silent_p.S136S|ZFAND6_uc021srx.1_Silent_p.S136S|ZFAND6_uc021sry.1_Silent_p.S136S|ZFAND6_uc002bfh.2_Silent_p.S136S|ZFAND6_uc002bfi.2_Silent_p.S136S	NM_019006	NP_061879	Q6FIF0	ZFAN6_HUMAN	Homo sapiens zinc finger, AN1-type domain 6 (ZFAND6), transcript variant 1, mRNA.	136							DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AAGAGCAAAGCAAGTCTCTTG	0.358													T	80423565	C	T	80423565	2	4	4	1	0	0	0	0	0	0	0	1	17628	709	25	2		2	ZFAND6	15	80423565	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	673726	80423565	22107827	3426	5491											
FAH	2184	broad.mit.edu	37	chr15	80464493	80464493	+	Splice_Site	DEL	T	T	-													aactctcccccatgtaaggcTttttttgtaggccctggaaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:80464492_80464492CT>C	uc002bfm.2	+	8	771	c.607_splice	c.e8-1	p.A203_splice	FAH_uc002bfn.2_Splice_Site_p.A133_splice	NM_000137	NP_000128	P16930	FAAA_HUMAN	Homo sapiens fumarylacetoacetate hydrolase (fumarylacetoacetase) (FAH), mRNA.	203					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCATGTAAGGCTTTTTTTGTA	0.498									Tyrosinemia, type 1				-	80464493	T	-	80464493	8	5	4	1	0	1	0	1	0	0	1	0	5371	1596	56	0	639	0	FAH	15	80464493	Splice_Site	DEL	T	TCGA-BR-4184-01A-01D-1126-08	40928	80464493	22066899	3427	5492											
KIAA1199	57214	broad.mit.edu	37	chr15	81172107	81172107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgattgttttgcgaacccggCacatcctgattgacaacgga	10	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:81172107C>T	uc002bfw.1	+	3	552	c.292C>T	c.(292-294)Cac>Tac	p.H98Y	KIAA1199_uc010unn.1_Missense_Mutation_p.H98Y	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	98	G8.							p.R97Q(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCGAACCCGGCACATCCTGAT	0.507													T	81172107	C	T	81172107	3	4	4	1	0	0	0	0	1	0	0	0	8213	710	25	2	302	2	KIAA1199	15	81172107	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	707614	81172107	21359285	3428	5493											
KIAA1199	57214	broad.mit.edu	37	chr15	81173308	81173308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggggttggtaaaggaggcGctcttgagttgcatggacag	17	5	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:81173308G>A	uc002bfw.1	+	4	708	c.448G>A	c.(448-450)Gct>Act	p.A150T	KIAA1199_uc010unn.1_Missense_Mutation_p.A150T	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	150	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TAAAGGAGGCGCTCTTGAGTT	0.493													A	81173308	G	A	81173308	3	1	4	1	0	0	0	0	1	0	0	0	8213	1087	38	1	462	1	KIAA1199	15	81173308	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1201	81173308	21358084	3429	5494											
KIAA1199	57214	broad.mit.edu	37	chr15	81213380	81213380	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctccctgcagtgctgtgTccaccttctggatggccaat	10	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:81213380T>C	uc002bfw.1	+	14	2271	c.2011T>C	c.(2011-2013)Tcc>Ccc	p.S671P	KIAA1199_uc010unn.1_Missense_Mutation_p.S671P	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	671										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CAGTGCTGTGTCCACCTTCTG	0.542													C	81213380	T	C	81213380	3	2	4	1	0	0	0	0	1	0	0	0	8213	1667	58	3	2065	3	KIAA1199	15	81213380	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	40072	81213380	21318012	3430	5495											
IL16	3603	broad.mit.edu	37	chr15	81598350	81598350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtctctcaaggggaccacGcaccatgatgccttggccat	10	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:81598350G>A	uc021ssh.1	+	15	3623	c.3522G>A	c.(3520-3522)acG>acA	p.T1174T	IL16_uc010blq.1_Silent_p.T1128T|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Silent_p.T1216T|IL16_uc002bgg.3_Silent_p.T1174T|IL16_uc002bgi.1_Silent_p.T564T|IL16_uc002bgj.3_Silent_p.T668T|IL16_uc021ssi.1_Silent_p.T473T|IL16_uc002bgl.1_Silent_p.T473T|IL16_uc010unq.1_Silent_p.T473T	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	1174	Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AGGGGACCACGCACCATGATG	0.557													A	81598350	G	A	81598350	2	1	4	1	0	0	0	0	0	0	0	1	7633	1074	38	1		1	IL16	15	81598350	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	384970	81598350	20933042	3431	5496											
EFTUD1	79631	broad.mit.edu	37	chr15	82520574	82520574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagccactgactgcaaatggCgttgatctgaactttagggt	11	8	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:82520574C>T	uc002bgt.1	-	9	1196	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T	EFTUD1_uc002bgu.1_Missense_Mutation_p.A292T	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	343					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTGCAAATGGCGTTGATCTGA	0.378													T	82520574	C	T	82520574	3	4	4	1	0	0	0	0	1	0	0	0	4960	768	27	1	2379	1	EFTUD1	15	82520574	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	922224	82520574	20010818	3432	5497											
FSD2	123722	broad.mit.edu	37	chr15	83455633	83455633	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagcagcttcttcttcatcCtcttcctcggggatgacata	7	13	5	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:83455633C>A	uc002bjd.2	-	1	677	c.510G>T	c.(508-510)gaG>gaT	p.E170D	FSD2_uc010uol.1_Missense_Mutation_p.E170D|FSD2_uc010uom.1_Missense_Mutation_p.E170D	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	170										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CTTCTTCATCCTCTTCCTCGG	0.502													A	83455633	C	A	83455633	3	1	4	1	0	0	0	0	1	0	0	0	6071	680	24	5	1787	5	FSD2	15	83455633	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	935059	83455633	19075759	3433	5498											
BTBD1	53339	broad.mit.edu	37	chr15	83698894	83698894	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aatataacagatacctgattCgatcactcgtcccactgtaa	5	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:83698894C>G	uc002bjn.3	-	4	1252	c.1049G>C	c.(1048-1050)cGa>cCa	p.R350P	BTBD1_uc002bjo.3_Missense_Mutation_p.R350P	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	Homo sapiens BTB (POZ) domain containing 1 (BTBD1), transcript variant 1, mRNA.	350						cytoplasmic mRNA processing body|protein complex	protein binding	p.R350Q(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		ATACCTGATTCGATCACTCGT	0.448													G	83698894	C	G	83698894	3	3	4	1	0	0	0	0	1	0	0	0	1537	884	31	5	415	5	BTBD1	15	83698894	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	243261	83698894	18832498	3434	5499											
ALPK3	57538	broad.mit.edu	37	chr15	85400381	85400381	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgctcccagcacagccGccccatgaggggagtgtgga	13	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:85400381G>A	uc002ble.3	+	5	3185	c.3018G>A	c.(3016-3018)ccG>ccA	p.P1006P		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1006					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGCACAGCCGCCCCATGAGG	0.627													A	85400381	G	A	85400381	2	1	4	1	0	0	0	0	0	0	0	1	546	1074	38	1		1	ALPK3	15	85400381	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1701487	85400381	17131011	3435	5500											
SLC28A1	9154	broad.mit.edu	37	chr15	85478614	85478614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtggcgtgggaggactgCccagtggtagctgagctgct	19	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:85478614C>T	uc002blg.3	+	14	1648	c.1446C>T	c.(1444-1446)tgC>tgT	p.C482C	SLC28A1_uc010bnb.3_Silent_p.C482C|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Silent_p.C482C|SLC28A1_uc010upg.1_Silent_p.C482C	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	482					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGGAGGACTGCCCAGTGGTAG	0.607													T	85478614	C	T	85478614	2	4	4	1	0	0	0	0	0	0	0	1	14531	747	26	2		2	SLC28A1	15	85478614	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	78233	85478614	17052778	3436	5501											
AKAP13	11214	broad.mit.edu	37	chr15	86287017	86287017	+	Frame_Shift_Del	DEL	A	A	-													agccaaaggaaaagaaggagAaaaaaaagaagaacaaaacc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:86287016_86287016GA>G	uc002blv.1	+	35	8522	c.8352_8352GA>G	c.(8350-8352)gagfs	p.E2784fs	AKAP13_uc002blu.1_Frame_Shift_Del_p.E2788fs|AKAP13_uc002blw.1_Frame_Shift_Del_p.E1249fs|AKAP13_uc002blx.1_Frame_Shift_Del_p.E1029fs	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2784	Interaction with ESR1.|Poly-Lys.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AAAAGAAGGAGAAAAAAAAGA	0.547													-	86287017	A	-	86287017	7	5	4	1	0	1	0	1	0	0	0	0	449	247	9	0	8561	0	AKAP13	15	86287017	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	808403	86287017	16244375	3437	5502											
AGBL1	123624	broad.mit.edu	37	chr15	87099509	87099509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggctcacccagtggatgGccttcaggtattggagcagc	14	10	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:87099509G>A	uc002blz.1	+	20	2992	c.2912G>A	c.(2911-2913)gGc>gAc	p.G971D		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	971					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CCAGTGGATGGCCTTCAGGTA	0.458													A	87099509	G	A	87099509	3	1	4	1	0	0	0	0	1	0	0	0	375	1203	42	2	2990	2	AGBL1	15	87099509	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	812492	87099509	15431883	3438	5503											
NTRK3	4916	broad.mit.edu	37	chr15	88483952	88483952	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcacccagttctcgcttcaGcacgatgtctctcctcttaa	5	16	5	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:88483952G>T	uc002bme.2	-	14	1924	c.1618C>A	c.(1618-1620)Ctg>Atg	p.L540M	NTRK3_uc002bmh.2_Missense_Mutation_p.L532M|NTRK3_uc002bmf.2_Missense_Mutation_p.L540M|NTRK3_uc021sua.1_Missense_Mutation_p.L532M|NTRK3_uc010upl.1_Missense_Mutation_p.L442M|NTRK3_uc010bnh.1_Missense_Mutation_p.L532M	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	540	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTCGCTTCAGCACGATGTCT	0.537			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			T	88483952	G	T	88483952	3	4	4	1	0	0	0	0	1	0	0	0	10708	962	34	5	925	5	NTRK3	15	88483952	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1384443	88483952	14047440	3439	5504											
MRPL46	26589	broad.mit.edu	37	chr15	89002999	89002999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgaagaagaacaccttggCtccgaggttactctctgtcc	9	11	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:89002999C>T	uc002bmj.2	-	3	710	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	MRPL46_uc002bmi.1_3'UTR	NM_022163	NP_071446	Q9H2W6	RM46_HUMAN	Homo sapiens mitochondrial ribosomal protein L46 (MRPL46), nuclear gene encoding mitochondrial protein, mRNA.	229						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AACACCTTGGCTCCGAGGTTA	0.498													T	89002999	C	T	89002999	3	4	4	1	0	0	0	0	1	0	0	0	9810	797	28	2	158	2	MRPL46	15	89002999	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	519047	89002999	13528393	3440	5505											
AEN	64782	broad.mit.edu	37	chr15	89172498	89172498	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtggtggtggggcacgcGctgcacaacgacttccaggc	16	11	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:89172498G>A	uc002bmt.2	+	2	733	c.582G>A	c.(580-582)gcG>gcA	p.A194A	AEN_uc010bnm.1_Silent_p.A194A	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN	Homo sapiens apoptosis enhancing nuclease (AEN), mRNA.	194	Exonuclease.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding	p.A194V(1)		NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						TGGGGCACGCGCTGCACAACG	0.607													A	89172498	G	A	89172498	2	1	4	1	0	0	0	0	0	0	0	1	351	1074	38	1		1	AEN	15	89172498	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	169499	89172498	13358894	3441	5506											
ACAN	176	broad.mit.edu	37	chr15	89382100	89382100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggtggccactgaagggCgcgtgcgggtcaacagtgcc	17	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:89382100C>T	uc010upo.1	+	2	651	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C	ACAN_uc002bmx.3_Missense_Mutation_p.R93C|ACAN_uc010upp.1_Missense_Mutation_p.R93C|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	93					cell adhesion		hyaluronic acid binding|sugar binding	p.R93R(1)|p.R93H(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CACTGAAGGGCGCGTGCGGGT	0.622													T	89382100	C	T	89382100	3	4	4	1	0	0	0	0	1	0	0	0	117	768	27	1	283	1	ACAN	15	89382100	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	209602	89382100	13149292	3442	5507											
RHCG	51458	broad.mit.edu	37	chr15	90039664	90039664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctctgaccaccagtgggCgtcggcctcgaagtcgtagc	12	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:90039664C>T	uc002bnz.2	-	0	136	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	RHCG_uc002boa.2_Non-coding_Transcript|RHCG_uc010bnq.1_5'UTR	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Homo sapiens Rh family, C glycoprotein (RHCG), mRNA.	38					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CACCAGTGGGCGTCGGCCTCG	0.602													T	90039664	C	T	90039664	3	4	4	1	0	0	0	0	1	0	0	0	13326	768	27	1	1367	1	RHCG	15	90039664	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	657564	90039664	12491728	3443	5508											
FES	2242	broad.mit.edu	37	chr15	91436365	91436365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccaccccaacatcgtgcGtctcattggtgtctgcaccc	8	17	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:91436365G>A	uc002bpv.3	+	14	1981	c.1862G>A	c.(1861-1863)cGt>cAt	p.R621H	FES_uc010uqj.2_Missense_Mutation_p.R493H|FES_uc010uqk.2_Missense_Mutation_p.R603H|FES_uc002bpx.3_Missense_Mutation_p.R551H|FES_uc002bpy.3_Missense_Mutation_p.R563H|FES_uc010bny.3_Intron	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	621	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AACATCGTGCGTCTCATTGGT	0.652													A	91436365	G	A	91436365	3	1	4	1	0	0	0	0	1	0	0	0	5820	1145	40	1	1916	1	FES	15	91436365	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1396701	91436365	11095027	3444	5509											
MAN2A2	4122	broad.mit.edu	37	chr15	91453478	91453478	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaggctattacacttcccgGcccttctacaagagcttaga	7	13	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:91453478G>T	uc010bnz.2	+	9	1648	c.1533G>T	c.(1531-1533)cgG>cgT	p.R511R	MAN2A2_uc010boa.3_Silent_p.R553R|MAN2A2_uc002bqc.3_Silent_p.R511R|MAN2A2_uc010uql.2_Silent_p.R173R|MAN2A2_uc010uqm.2_Intron|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	511					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ACACTTCCCGGCCCTTCTACA	0.607													T	91453478	G	T	91453478	2	4	4	1	0	0	0	0	0	0	0	1	9215	1190	42	5		5	MAN2A2	15	91453478	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	17113	91453478	11077914	3445	5510											
MAN2A2	4122	broad.mit.edu	37	chr15	91461902	91461902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctaccctcggcggagaccGcactcatcttacaccgcaag	8	18	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:91461902G>A	uc010bnz.2	+	21	3332	c.3217G>A	c.(3217-3219)Gca>Aca	p.A1073T	MAN2A2_uc002bqc.3_Missense_Mutation_p.A1073T|MAN2A2_uc010uql.2_Missense_Mutation_p.A735T|MAN2A2_uc010uqm.2_Missense_Mutation_p.A652T|MAN2A2_uc010uqn.1_Non-coding_Transcript	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	1073					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGCGGAGACCGCACTCATCTT	0.607													A	91461902	G	A	91461902	3	1	4	1	0	0	0	0	1	0	0	0	9215	1087	38	1	3299	1	MAN2A2	15	91461902	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	8424	91461902	11069490	3446	5511											
UNC45A	55898	broad.mit.edu	37	chr15	91483621	91483621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggttcagctcttgcaacGtttactggacatgggagaga	14	7	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:91483621G>A	uc002bqg.3	+	5	945	c.605G>A	c.(604-606)cGt>cAt	p.R202H	UNC45A_uc002bqd.3_Missense_Mutation_p.R187H|UNC45A_uc010uqo.1_Missense_Mutation_p.R194H|UNC45A_uc010uqp.1_Non-coding_Transcript|UNC45A_uc010uqq.1_Missense_Mutation_p.R202H	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.	202					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTCTTGCAACGTTTACTGGAC	0.572													A	91483621	G	A	91483621	3	1	4	1	0	0	0	0	1	0	0	0	16985	1145	40	1	627	1	UNC45A	15	91483621	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	21719	91483621	11047771	3447	5512											
PRC1	9055	broad.mit.edu	37	chr15	91517404	91517404	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtattgggagccagtcctcGccgcttgctaggtgttcgag	14	10	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:91517404G>A	uc002bqm.3	-	10	1580	c.1423C>T	c.(1423-1425)Cga>Tga	p.R475*	PRC1_uc002bqn.3_Nonsense_Mutation_p.R475*|PRC1_uc002bqo.3_Nonsense_Mutation_p.R475*|PRC1_uc010uqs.2_Nonsense_Mutation_p.R434*	NM_003981	NP_003972	O43663	PRC1_HUMAN	Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.	475	Unstructured, Arg/Lys rich.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GCCAGTCCTCGCCGCTTGCTA	0.512													A	91517404	G	A	91517404	4	1	4	1	0	0	0	0	0	1	0	0	12446	1095	38	1	459	1	PRC1	15	91517404	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	33783	91517404	11013988	3448	5513											
SV2B	9899	broad.mit.edu	37	chr15	91769547	91769547	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctatgctcccagtgatggCtattaccgcggcaatgagtc	12	11	0	2	rs147933433	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:91769547C>T	uc002bqv.3	+	2	945	c.54C>T	c.(52-54)ggC>ggT	p.G18G	SV2B_uc002bqt.3_Silent_p.G18G|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Intron	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	18					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CCAGTGATGGCTATTACCGCG	0.522													T	91769547	C	T	91769547	2	4	4	1	0	0	0	0	0	0	0	1	15415	784	28	2		2	SV2B	15	91769547	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	252143	91769547	10761845	3449	5514											
SLCO3A1	28232	broad.mit.edu	37	chr15	92669301	92669301	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccttccagggatgactgcGatcccgtgtgcttgtctggg	13	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:92669301G>A	uc002bqx.2	+	5	1386	c.1185G>A	c.(1183-1185)gcG>gcA	p.A395A	SLCO3A1_uc002bqy.2_Silent_p.A395A|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.A337A	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	395					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GGATGACTGCGATCCCGTGTG	0.607													A	92669301	G	A	92669301	2	1	4	1	0	0	0	0	0	0	0	1	14728	1045	37	1		1	SLCO3A1	15	92669301	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	899754	92669301	9862091	3450	5515											
C15orf32	145858	broad.mit.edu	37	chr15	93015523	93015523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccccctttctcggcgaggCcatgtgtctggaccctgtgt	11	15	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:93015523C>T	uc002brc.1	+	0	617	c.145C>T	c.(145-147)Cca>Tca	p.P49S	C15orf32_uc010bod.1_Non-coding_Transcript	NM_153040	NP_694585	Q32M92	CO032_HUMAN	Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA.	49										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			CTCGGCGAGGCCATGTGTCTG	0.517													T	93015523	C	T	93015523	3	4	4	1	0	0	0	0	1	0	0	0	1790	739	26	2	147	2	C15orf32	15	93015523	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	346222	93015523	9515869	3451	5516											
CHD2	1106	broad.mit.edu	37	chr15	93527700	93527700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctagaagaaatttatatGctgcctcgaattcggagttc	10	7	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:93527700G>A	uc002bsp.3	+	24	3782	c.3207G>A	c.(3205-3207)atG>atA	p.M1069I	CHD2_uc002bso.1_Missense_Mutation_p.M1069I	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1069					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAATTTATATGCTGCCTCGAA	0.398													A	93527700	G	A	93527700	3	1	4	1	0	0	0	0	1	0	0	0	3325	1319	46	2	3305	2	CHD2	15	93527700	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	512177	93527700	9003692	3452	5517											
CHD2	1106	broad.mit.edu	37	chr15	93540578	93540578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggggatttatgaacatgGctatggaaactgggagttaa	14	4	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:93540578G>A	uc002bsp.3	+	29	4405	c.3830G>A	c.(3829-3831)gGc>gAc	p.G1277D	CHD2_uc002bso.1_Missense_Mutation_p.G1277D	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1277					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TATGAACATGGCTATGGAAAC	0.408													A	93540578	G	A	93540578	3	1	4	1	0	0	0	0	1	0	0	0	3325	1203	42	2	3948	2	CHD2	15	93540578	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	12878	93540578	8990814	3453	5518											
NR2F2	7026	broad.mit.edu	37	chr15	96875556	96875556	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgacaagcagcagcagcaGcaacacatcgagtgcgtggt	13	11	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:96875556G>A	uc010uri.2	+	0	1446	c.222G>A	c.(220-222)caG>caA	p.Q74Q	NR2F2_uc002btp.3_Intron|NR2F2_uc010urj.2_5'Flank|MIR1469_uc021swi.1_5'Flank|NR2F2_uc010urk.2_5'Flank	NM_021005	NP_001138629	P24468	COT2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 2 (NR2F2), transcript variant 1, mRNA.	74	Poly-Gln.				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			AGCAGCAGCAGCAACACATCG	0.697													A	96875556	G	A	96875556	2	1	4	1	0	0	0	0	0	0	0	1	10628	962	34	2		2	NR2F2	15	96875556	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3334978	96875556	5655836	3454	5519											
IGF1R	3480	broad.mit.edu	37	chr15	99486223	99486223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaagggctgctgcccgtgCgctggatgtctcctgagtcc	15	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:99486223C>T	uc002bul.3	+	18	3579	c.3529C>T	c.(3529-3531)Cgc>Tgc	p.R1177C	IGF1R_uc010bon.3_Missense_Mutation_p.R1176C	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	1177	Protein kinase.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GCTGCCCGTGCGCTGGATGTC	0.542													T	99486223	C	T	99486223	3	4	4	1	0	0	0	0	1	0	0	0	7571	768	27	1	3603	1	IGF1R	15	99486223	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2610667	99486223	3045169	3455	5520											
IGF1R	3480	broad.mit.edu	37	chr15	99500550	99500550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacacaaggccgagaacgGccccggccctggggtgctgg	17	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:99500550G>A	uc002bul.3	+	20	4033	c.3983G>A	c.(3982-3984)gGc>gAc	p.G1328D	IGF1R_uc010bon.3_Missense_Mutation_p.G1327D	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	1328					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GCCGAGAACGGCCCCGGCCCT	0.687													A	99500550	G	A	99500550	3	1	4	1	0	0	0	0	1	0	0	0	7571	1203	42	2	4065	2	IGF1R	15	99500550	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	14327	99500550	3030842	3456	5521											
SYNM	23336	broad.mit.edu	37	chr15	99653893	99653893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctgcaggtgaagaccgGcctcagtctggaggtggcga	15	12	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:99653893G>A	uc002bup.3	+	2	1025	c.905G>A	c.(904-906)gGc>gAc	p.G302D	SYNM_uc002buo.3_Missense_Mutation_p.G302D|SYNM_uc002buq.3_Non-coding_Transcript	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	303	Interaction with DMD and UTRN.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GTGAAGACCGGCCTCAGTCTG	0.567													A	99653893	G	A	99653893	3	1	4	1	0	0	0	0	1	0	0	0	15452	1203	42	2	913	2	SYNM	15	99653893	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	153343	99653893	2877499	3457	5522											
SYNM	23336	broad.mit.edu	37	chr15	99671250	99671250	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcccttggatgtcccagcGccctctctggagggggacct	13	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:99671250G>A	uc002bup.3	+	4	2802	c.2682G>A	c.(2680-2682)gcG>gcA	p.A894A	SYNM_uc002buo.3_Silent_p.A894A|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	895	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						ATGTCCCAGCGCCCTCTCTGG	0.527													A	99671250	G	A	99671250	2	1	4	1	0	0	0	0	0	0	0	1	15452	1074	38	1		1	SYNM	15	99671250	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	17357	99671250	2860142	3458	5523											
LRRK1	79705	broad.mit.edu	37	chr15	101567506	101567506	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaggtcaggaagggctgCgacagctgattttccacgtc	14	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:101567506C>T	uc002bwr.3	+	17	2765	c.2446C>T	c.(2446-2448)Cga>Tga	p.R816*	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	816	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGAAGGGCTGCGACAGCTGAT	0.592													T	101567506	C	T	101567506	4	4	4	1	0	0	0	0	0	1	0	0	9032	760	27	1	2512	1	LRRK1	15	101567506	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1896256	101567506	963886	3459	5524											
AXIN1	8312	broad.mit.edu	37	chr16	339492	339492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactggcccagggtgacagCgcggcccctcaccagggtgc	15	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:339492C>T	uc002cgp.2	-	9	2799	c.2410G>A	c.(2410-2412)Gct>Act	p.A804T	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Missense_Mutation_p.A768T	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	804	DIX.				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				AGGGTGACAGCGCGGCCCCTC	0.657													T	339492	C	T	339492	3	4	4	1	0	0	0	0	1	0	0	0	1236	768	27	1	186	1	AXIN1	16	339492	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08		339492	90015261	3460	5525											
RAB11FIP3	9727	broad.mit.edu	37	chr16	511442	511442	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacttggatcccagtgggctCggcgtgatcagctttgaaga	13	9	1	3	rs149492456		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:511442C>T	uc002chf.3	+	1	1092	c.753C>T	c.(751-753)ctC>ctT	p.L251L		NM_014700	NP_055515	O75154	RFIP3_HUMAN	Homo sapiens RAB11 family interacting protein 3 (class II) (RAB11FIP3), transcript variant 1, mRNA.	251	EF-hand 2.				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				CCAGTGGGCTCGGCGTGATCA	0.537													T	511442	C	T	511442	2	4	4	1	0	0	0	0	0	0	0	1	12895	871	31	1		1	RAB11FIP3	16	511442	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	171950	511442	89843311	3461	5526											
WDR90	197335	broad.mit.edu	37	chr16	716352	716352	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtcacgtgcaaagaggTaaagcagccccaagagctgg	13	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:716352T>C	uc002cii.1	+	37	4794	c.4740_splice	c.e37+2	p.E1580_splice	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_Splice_Site|WDR90_uc002cin.1_Splice_Site_p.E195_splice|WDR90_uc002cio.1_Splice_Site_p.E179_splice|WDR90_uc010bqx.1_Splice_Site_p.E179_splice|RHOT2_uc010uum.2_5'Flank|RHOT2_uc002cip.3_5'Flank|RHOT2_uc002ciq.3_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1580										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TGCAAAGAGGTAAAGCAGCCC	0.637													C	716352	T	C	716352	5	2	4	1	0	0	0	0	0	0	1	0	17334	1652	57	3	4888	3	WDR90	16	716352	Splice_Site	SNP	T	TCGA-BR-4184-01A-01D-1126-08	204910	716352	89638401	3462	5527											
RHOT2	89941	broad.mit.edu	37	chr16	721922	721922	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagtgtgttcccagcagcGccctggggccccgagctccc	12	17	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:721922G>A	uc002cip.3	+	12	1134	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A	RHOT2_uc002ciq.3_Silent_p.A232A|RHOT2_uc010bqy.3_Silent_p.A118A	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	Homo sapiens ras homolog gene family, member T2 (RHOT2), nuclear gene encoding mitochondrial protein, mRNA.	339	EF-hand 2.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				TCCCAGCAGCGCCCTGGGGCC	0.672													A	721922	G	A	721922	2	1	4	1	0	0	0	0	0	0	0	1	13344	1074	38	1		1	RHOT2	16	721922	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5570	721922	89632831	3463	5528											
NARFL	64428	broad.mit.edu	37	chr16	780500	780500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgacctgcacactccgagtCcgtgccctgcagccagtgtg	12	16	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:780500C>T	uc002cjr.3	-	10	1360	c.1348G>A	c.(1348-1350)Gac>Aac	p.D450N	NARFL_uc002cjp.3_Missense_Mutation_p.D348N|NARFL_uc002cjq.3_Missense_Mutation_p.D348N	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	Homo sapiens nuclear prelamin A recognition factor-like (NARFL), mRNA.	450					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				CACTCCGAGTCCGTGCCCTGC	0.667													T	780500	C	T	780500	3	4	4	1	0	0	0	0	1	0	0	0	10168	855	30	4	86	4	NARFL	16	780500	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	58578	780500	89574253	3464	5529											
MSLN	10232	broad.mit.edu	37	chr16	815527	815527	+	Frame_Shift_Del	DEL	C	C	-													tgtgtcccgtgtctgcacagCcccccgtcgacatggtctgt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:815527delC	uc002cjw.1	+	9	756	c.705delC	c.(703-705)GGCfs	p.G235fs	MSLN_uc002cjt.1_Frame_Shift_Del_p.G235fs|MSLN_uc002cju.1_Frame_Shift_Del_p.G235fs|MSLN_uc010brd.1_Frame_Shift_Del_p.G234fs|MSLN_uc002cjv.1_Frame_Shift_Del_p.G235fs|MSLN_uc002cjx.1_Frame_Shift_Del_p.G235fs|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	mesothelin isoform 2 preproprotein	235					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				pancreas(1)	1		Hepatocellular(780;0.00335)				GTCTGCACAGCCCCCCGTCGA	0.706													-	815527	C	-	815527	7	5	4	1	0	1	0	1	0	0	0	0	9881	753	26	0	735	0	MSLN	16	815527	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	35027	815527	89539226	3465	5530											
BAIAP3	8938	broad.mit.edu	37	chr16	1394700	1394700	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgccagcctcttccacagGtgggcctggcccctcagtgc	11	17	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:1394700G>A	uc002clk.2	+	19	2020	c.1862_splice	c.e19+1	p.S621_splice	BAIAP3_uc010uuz.2_Splice_Site_p.S586_splice|BAIAP3_uc010uva.2_Splice_Site_p.S558_splice|BAIAP3_uc021tag.1_Splice_Site_p.S563_splice|BAIAP3_uc002clj.3_Splice_Site_p.S603_splice|BAIAP3_uc010uvc.1_Splice_Site_p.S550_splice	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	621					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TCTTCCACAGGTGGGCCTGGC	0.647													A	1394700	G	A	1394700	5	1	4	1	0	0	0	0	0	0	1	0	1304	1275	44	4	1937	4	BAIAP3	16	1394700	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	579173	1394700	88960053	3466	5531											
CLCN7	1186	broad.mit.edu	37	chr16	1510842	1510842	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgaccctgtacttgagGccagccaggttttccaccac	9	13	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:1510842G>A	uc002clv.2	-	4	569	c.459C>T	c.(457-459)ggC>ggT	p.G153G	CLCN7_uc002clw.2_Silent_p.G129G	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	153						integral to membrane|lysosomal membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity	p.G153V(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TGTACTTGAGGCCAGCCAGGT	0.637													A	1510842	G	A	1510842	2	1	4	1	0	0	0	0	0	0	0	1	3468	1190	42	2		2	CLCN7	16	1510842	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	116142	1510842	88843911	3467	5532											
EME2	197342	broad.mit.edu	37	chr16	1825067	1825067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcccaacccactgggtgcCctggatctcccccgagacca	10	18	1	1	rs148313225	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:1825067C>T	uc002cmq.1	+	3	503	c.503C>T	c.(502-504)cCc>cTc	p.P168L	MRPS34_uc002cmo.3_5'Flank|MRPS34_uc021taj.1_5'Flank|EME2_uc010brw.1_Missense_Mutation_p.P168L	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	Homo sapiens essential meiotic endonuclease 1 homolog 2 (S. pombe) (EME2), mRNA.	168					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CACTGGGTGCCCTGGATCTCC	0.647								Direct reversal of damage;Homologous recombination					T	1825067	C	T	1825067	3	4	4	1	0	0	0	0	1	0	0	0	5089	623	22	4	517	4	EME2	16	1825067	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	314225	1825067	88529686	3468	5533											
ZNF598	90850	broad.mit.edu	37	chr16	2048277	2048277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgcagggaggggaagtcgtCgtcccgggcagcatgcagcg	18	10	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:2048277C>T	uc002cof.1	-	13	2686	c.2671G>A	c.(2671-2673)Gac>Aac	p.D891N	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_Missense_Mutation_p.D255N	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	891						intracellular	zinc ion binding	p.D890H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGGAAGTCGTCGTCCCGGGCA	0.687													T	2048277	C	T	2048277	3	4	4	1	0	0	0	0	1	0	0	0	18025	884	31	1	47	1	ZNF598	16	2048277	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	223210	2048277	88306476	3469	5534											
TSC2	7249	broad.mit.edu	37	chr16	2126084	2126084	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcaggtttaatcagtacatCgtgtgtctggcccatcacgt	9	11	4	0	rs137854232		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:2126084C>A	uc002con.3	+	23	2761	c.2655C>A	c.(2653-2655)atC>atA	p.I885I	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.I885I|TSC2_uc002coo.3_Silent_p.I885I|TSC2_uc010uvv.2_Silent_p.I848I|TSC2_uc010uvw.2_Silent_p.I836I|TSC2_uc002cop.3_Silent_p.I685I	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	885					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ATCAGTACATCGTGTGTCTGG	0.557			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				A	2126084	C	A	2126084	2	1	4	1	0	0	0	0	0	0	0	1	16603	874	31	5		5	TSC2	16	2126084	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	77807	2126084	88228669	3470	5535											
PKD1	5310	broad.mit.edu	37	chr16	2152614	2152614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagaggttcagatggtaaCtccccgctgggtctctgctc	13	11	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:2152614C>T	uc002cos.1	-	24	9178	c.8969G>A	c.(8968-8970)aGt>aAt	p.S2990N	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.S2990N|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2990					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGATGGTAACTCCCCGCTGG	0.647													T	2152614	C	T	2152614	3	4	4	1	0	0	0	0	1	0	0	0	11963	565	20	4	4030	4	PKD1	16	2152614	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	26530	2152614	88202139	3471	5536											
PKD1	5310	broad.mit.edu	37	chr16	2162937	2162937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgttgtagttcacggtgaCgttgctcacgtggttggagg	15	7	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:2162937C>T	uc002cos.1	-	12	3222	c.3013G>A	c.(3013-3015)Gtc>Atc	p.V1005I	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.V1005I	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1005	PKD 4.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTCACGGTGACGTTGCTCACG	0.642													T	2162937	C	T	2162937	3	4	4	1	0	0	0	0	1	0	0	0	11963	536	19	1	10034	1	PKD1	16	2162937	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	10323	2162937	88191816	3472	5537											
MLST8	64223	broad.mit.edu	37	chr16	2258304	2258304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgcccacacgcgctacGccctgcagtgtcgcttcagc	9	19	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:2258304G>A	uc002coy.3	+	6	1058	c.667G>A	c.(667-669)Gcc>Acc	p.A223T	MLST8_uc002cpc.3_Missense_Mutation_p.A223T|MLST8_uc010uvx.2_Missense_Mutation_p.A157T|MLST8_uc002cpd.3_Missense_Mutation_p.A157T|MLST8_uc002cpb.3_Missense_Mutation_p.A222T|MLST8_uc002coz.3_Missense_Mutation_p.A223T|MLST8_uc002cpe.3_Missense_Mutation_p.A223T|MLST8_uc002cpf.3_Missense_Mutation_p.A223T|MLST8_uc002cph.3_Intron	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	Homo sapiens MTOR associated protein, LST8 homolog (S. cerevisiae) (MLST8), transcript variant 1, mRNA.	223					T cell costimulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						CACGCGCTACGCCCTGCAGTG	0.667													A	2258304	G	A	2258304	3	1	4	1	0	0	0	0	1	0	0	0	9634	1087	38	1	689	1	MLST8	16	2258304	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	95367	2258304	88096449	3473	5538											
E4F1	1877	broad.mit.edu	37	chr16	2284179	2284179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtggctgcagggccgagGccgttcgcctgcgcgcagtg	18	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:2284179G>A	uc002cpm.3	+	9	1431	c.1383G>A	c.(1381-1383)agG>agA	p.R461R	E4F1_uc010bsi.3_Silent_p.R461R|E4F1_uc010bsj.3_Intron|DNASE1L2_uc002cpn.3_5'Flank|DNASE1L2_uc002cpo.3_5'Flank|DNASE1L2_uc002cpp.3_5'Flank|DNASE1L2_uc002cpq.3_5'Flank	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	Homo sapiens E4F transcription factor 1 (E4F1), mRNA.	461	Interaction with BMI1.|Mediates interaction with CDKN2A.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CAGGGCCGAGGCCGTTCGCCT	0.701													A	2284179	G	A	2284179	2	1	4	1	0	0	0	0	0	0	0	1	4874	1194	42	2		2	E4F1	16	2284179	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	25875	2284179	88070574	3474	5539											
SRRM2	23524	broad.mit.edu	37	chr16	2815022	2815022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcctaggccgaggagtcGttctccatcatccccagagc	10	15	2	1	rs151214324		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:2815022G>A	uc002crk.3	+	10	5042	c.4493G>A	c.(4492-4494)cGt>cAt	p.R1498H	SRRM2_uc002crj.1_Missense_Mutation_p.R1402H|SRRM2_uc002crl.1_Missense_Mutation_p.R1498H|SRRM2_uc010bsu.1_Missense_Mutation_p.R1402H	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1498	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCGAGGAGTCGTTCTCCATCA	0.498													A	2815022	G	A	2815022	3	1	4	1	0	0	0	0	1	0	0	0	15168	1145	40	1	4531	1	SRRM2	16	2815022	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	530843	2815022	87539731	3475	5540											
SRRM2	23524	broad.mit.edu	37	chr16	2815081	2815081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccccagagagaaagaagcGggtcagaatcatcagttgat	11	10	3	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:2815081G>A	uc002crk.3	+	10	5101	c.4552G>A	c.(4552-4554)Ggg>Agg	p.G1518R	SRRM2_uc002crj.1_Missense_Mutation_p.G1422R|SRRM2_uc002crl.1_Missense_Mutation_p.G1518R|SRRM2_uc010bsu.1_Missense_Mutation_p.G1422R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1518	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGAAAGAAGCGGGTCAGAATC	0.527													A	2815081	G	A	2815081	3	1	4	1	0	0	0	0	1	0	0	0	15168	1116	39	1	4590	1	SRRM2	16	2815081	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	59	2815081	87539672	3476	5541											
SRRM2	23524	broad.mit.edu	37	chr16	2816576	2816576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctcaccagtgacacgccGccgctctaggtcccggacac	9	18	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:2816576G>A	uc002crk.3	+	10	6596	c.6047G>A	c.(6046-6048)cGc>cAc	p.R2016H	SRRM2_uc002crj.1_Missense_Mutation_p.R1920H|SRRM2_uc002crl.1_Missense_Mutation_p.R2016H|SRRM2_uc010bsu.1_Missense_Mutation_p.R1920H	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2016	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTGACACGCCGCCGCTCTAGG	0.577													A	2816576	G	A	2816576	3	1	4	1	0	0	0	0	1	0	0	0	15168	1087	38	1	6085	1	SRRM2	16	2816576	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1495	2816576	87538177	3477	5542											
FLYWCH1	84256	broad.mit.edu	37	chr16	2988353	2988353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccataacccagggccaccGcatcatggtcatgcgcagcc	10	17	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:2988353G>A	uc002csd.3	+	7	2309	c.1946G>A	c.(1945-1947)cGc>cAc	p.R649H	FLYWCH1_uc002csb.3_Missense_Mutation_p.R648H|FLYWCH1_uc002csc.3_Missense_Mutation_p.R648H|FLYWCH1_uc010bsv.3_Missense_Mutation_p.R373H|FLYWCH1_uc002cse.3_Missense_Mutation_p.R104H	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	Homo sapiens FLYWCH-type zinc finger 1 (FLYWCH1), transcript variant 1, mRNA.	649						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						CAGGGCCACCGCATCATGGTC	0.682													A	2988353	G	A	2988353	3	1	4	1	0	0	0	0	1	0	0	0	5947	1087	38	1	1965	1	FLYWCH1	16	2988353	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	171777	2988353	87366400	3478	5543											
ZNF205	7755	broad.mit.edu	37	chr16	3169748	3169748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatccacacgggcgagaagCcctacacctgccccgcctgc	9	19	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:3169748C>T	uc002cub.3	+	6	1222	c.1087C>T	c.(1087-1089)Ccc>Tcc	p.P363S	ZNF205_uc002cua.3_Missense_Mutation_p.P363S	NM_001042428	NP_003447	O95201	ZN205_HUMAN	Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2, mRNA.	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.K362M(1)|p.K362E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GGGCGAGAAGCCCTACACCTG	0.657													T	3169748	C	T	3169748	3	4	4	1	0	0	0	0	1	0	0	0	17761	739	26	2	1109	2	ZNF205	16	3169748	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	181395	3169748	87185005	3479	5544											
ZNF75A	7627	broad.mit.edu	37	chr16	3367335	3367335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaaaatcattttgatatGcacagagtgggaaaatggca	10	4	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:3367335G>A	uc002cut.4	+	5	883	c.357G>A	c.(355-357)atG>atA	p.M119I	ZNF75A_uc002cuv.4_Non-coding_Transcript	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN	Homo sapiens zinc finger protein 75a (ZNF75A), mRNA.	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M119I(2)		breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						ATTTTGATATGCACAGAGTGG	0.388													A	3367335	G	A	3367335	3	1	4	1	0	0	0	0	1	0	0	0	18130	1319	46	2	367	2	ZNF75A	16	3367335	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	197587	3367335	86987418	3480	5545											
OR2C1	4993	broad.mit.edu	37	chr16	3406131	3406131	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccatgtacttcttcctcaGcaacctctcctccttggacc	4	18	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:3406131G>T	uc002cuw.1	+	0	243	c.191G>T	c.(190-192)aGc>aTc	p.S64I		NM_012368	NP_036500	O95371	OR2C1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TTCTTCCTCAGCAACCTCTCC	0.522													T	3406131	G	T	3406131	3	4	4	1	0	0	0	0	1	0	0	0	10992	971	34	5	193	5	OR2C1	16	3406131	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	38796	3406131	86948622	3481	5546											
ZNF434	54925	broad.mit.edu	37	chr16	3434741	3434741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggcctctcctcactttgcGgtaactcaactgtaggcttt	8	13	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:3434741G>A	uc002cux.4	-	5	1208	c.949C>T	c.(949-951)Cgc>Tgc	p.R317C	ZNF434_uc010uwx.2_Missense_Mutation_p.R29C|ZNF434_uc002cuy.4_Missense_Mutation_p.R29C|ZNF434_uc002cuz.3_Missense_Mutation_p.R106C|ZNF434_uc010uwy.1_Missense_Mutation_p.R29C|ZNF434_uc010uwz.1_Missense_Mutation_p.R317C|ZNF434_uc010uxa.1_Missense_Mutation_p.R106C	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN	Homo sapiens zinc finger protein 434 (ZNF434), mRNA.	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTCACTTTGCGGTAACTCAAC	0.542													A	3434741	G	A	3434741	3	1	4	1	0	0	0	0	1	0	0	0	17905	1116	39	1	1149	1	ZNF434	16	3434741	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	28610	3434741	86920012	3482	5547											
CREBBP	1387	broad.mit.edu	37	chr16	3781373	3781373	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagggtgaggaaggcgtcGcgcccatccatgaggtcaca	16	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:3781373G>A	uc002cvv.3	-	29	5196	c.4992C>T	c.(4990-4992)cgC>cgT	p.R1664R	CREBBP_uc002cvw.3_Silent_p.R1626R	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1664	Interaction with TRERF1.		R -> H (in RSTS1; abolishes acetyltransferase activity).		N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1664C(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGAAGGCGTCGCGCCCATCCA	0.642			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						A	3781373	G	A	3781373	2	1	4	1	0	0	0	0	0	0	0	1	3861	1074	38	1		1	CREBBP	16	3781373	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	346632	3781373	86573380	3483	5548											
DNAJA3	9093	broad.mit.edu	37	chr16	4491417	4491417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagcagtacgatgcctaCggctctgcaggcttcgatcc	12	12	1	0	rs139524293		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:4491417C>T	uc002cwk.3	+	3	548	c.471C>T	c.(469-471)taC>taT	p.Y157Y	DNAJA3_uc002cwl.3_Silent_p.Y157Y|DNAJA3_uc010uxk.2_Intron	NM_005147	NP_005138	Q96EY1	DNJA3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 3 (DNAJA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	157	J.				activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|NF-kappaB binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						ACGATGCCTACGGCTCTGCAG	0.577													T	4491417	C	T	4491417	2	4	4	1	0	0	0	0	0	0	0	1	4613	547	19	1		1	DNAJA3	16	4491417	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	710044	4491417	85863336	3484	5549											
GLYR1	84656	broad.mit.edu	37	chr16	4873830	4873830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctccttacctcgcttgCggttggctgccatttaaacg	10	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:4873830C>T	uc002cxx.4	-	5	653	c.616G>A	c.(616-618)Gca>Aca	p.A206T	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Missense_Mutation_p.A137T|GLYR1_uc002cya.2_Missense_Mutation_p.A206T|GLYR1_uc010uxv.1_Missense_Mutation_p.A125T	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	206					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						ACCTCGCTTGCGGTTGGCTGC	0.542													T	4873830	C	T	4873830	3	4	4	1	0	0	0	0	1	0	0	0	6483	768	27	1	1089	1	GLYR1	16	4873830	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	382413	4873830	85480923	3485	5550											
PPL	5493	broad.mit.edu	37	chr16	4933784	4933784	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtctttgtccttggagagCctcttgaggtcatccagttc	11	10	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:4933784C>T	uc002cyd.1	-	21	4962	c.4872G>A	c.(4870-4872)agG>agA	p.R1624R		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1624					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCTTGGAGAGCCTCTTGAGGT	0.627													T	4933784	C	T	4933784	2	4	4	1	0	0	0	0	0	0	0	1	12334	738	26	2		2	PPL	16	4933784	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	59954	4933784	85420969	3486	5551											
USP7	7874	broad.mit.edu	37	chr16	8994445	8994445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggctttatcaagagacaCgtcatagtcctgaattctct	8	9	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:8994445C>T	uc002czl.2	-	20	2450	c.2251G>A	c.(2251-2253)Gtg>Atg	p.V751M	USP7_uc010uyk.1_Missense_Mutation_p.V652M|USP7_uc010uyj.1_Missense_Mutation_p.V652M|USP7_uc002czk.2_Missense_Mutation_p.V735M	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	751	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCAAGAGACACGTCATAGTCC	0.343													T	8994445	C	T	8994445	3	4	4	1	0	0	0	0	1	0	0	0	17085	536	19	1	1101	1	USP7	16	8994445	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4060661	8994445	81360308	3487	5552											
ATF7IP2	80063	broad.mit.edu	37	chr16	10524906	10524906	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactgaacacttctgaaaaCgattctgagcatcagacaaa	6	10	4	4	rs114568129	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:10524906C>T	uc002czw.3	+	1	588	c.429C>T	c.(427-429)aaC>aaT	p.N143N	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Silent_p.N143N|ATF7IP2_uc002czv.3_Silent_p.N143N|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						CTTCTGAAAACGATTCTGAGC	0.438													T	10524906	C	T	10524906	2	4	4	1	0	0	0	0	0	0	0	1	1088	535	19	1		1	ATF7IP2	16	10524906	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1530461	10524906	79829847	3488	5553											
CIITA	4261	broad.mit.edu	37	chr16	11001033	11001033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcctgagcaaggccgacGccctatttgagctgtccggc	13	13	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:11001033G>A	uc002daj.4	+	10	1820	c.1687G>A	c.(1687-1689)Gcc>Acc	p.A563T	CIITA_uc002dai.4_Missense_Mutation_p.A562T|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Missense_Mutation_p.A562T|CIITA_uc002dah.2_Missense_Mutation_p.A514T|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	562	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CAAGGCCGACGCCCTATTTGA	0.637			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								A	11001033	G	A	11001033	3	1	4	1	0	0	0	0	1	0	0	0	3428	1087	38	1	1726	1	CIITA	16	11001033	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	476127	11001033	79353720	3489	5554											
PRM3	58531	broad.mit.edu	37	chr16	11367303	11367303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcttcctcctcttcctcGcccgctgatgacaaggagaa	7	16	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:11367303G>A	uc002dat.1	-	0	150	c.150C>T	c.(148-150)ggC>ggT	p.G50G	RMI2_uc002daq.1_Intron	NM_021247	NP_067070	Q9NNZ6	PRM3_HUMAN	Homo sapiens protamine 3 (PRM3), mRNA.	50					cell differentiation|chromosome condensation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)									cctcttcctcGCCCGCTGATG	0.622													A	11367303	G	A	11367303	2	1	4	1	0	0	0	0	0	0	0	1	12534	1074	38	1		1	PRM3	16	11367303	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	366270	11367303	78987450	3490	5555											
TXNDC11	51061	broad.mit.edu	37	chr16	11815525	11815525	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaagtacccgagtactccaGgctgcaggaaaaagagcaga	11	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:11815525G>T	uc010buu.1	-	5	762	c.700_splice	c.e5-1	p.P234_splice	TXNDC11_uc002dbg.1_Splice_Site_p.P234_splice	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA.	234					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAGTACTCCAGGCTGCAGGAA	0.403													T	11815525	G	T	11815525	5	4	4	1	0	0	0	0	0	0	1	0	16789	1014	35	5	2207	5	TXNDC11	16	11815525	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	448222	11815525	78539228	3491	5556											
RSL1D1	26156	broad.mit.edu	37	chr16	11931668	11931668	+	Frame_Shift_Del	DEL	T	T	-													gtcgactggggtactttgggTtttttgggccattttttggg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:11931667_11931667GT>G	uc002dbp.1	-	8	1523	c.1450_1450AC>C	c.(1450-1452)cccfs	p.P484fs	RSL1D1_uc010buv.1_Frame_Shift_Del_p.P483fs|RSL1D1_uc010uyw.1_Frame_Shift_Del_p.P264fs	NM_015659	NP_056474	O76021	RL1D1_HUMAN	Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA.	484					regulation of protein localization|translation	large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						GGTACTTTGGGTTTTTTGGGC	0.473													-	11931668	T	-	11931668	7	5	4	1	0	1	0	1	0	0	0	0	13700	1722	60	0	27	0	RSL1D1	16	11931668	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	116143	11931668	78423085	3492	5557											
SNX29	92017	broad.mit.edu	37	chr16	12220513	12220513	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactgcgccaggccactgtgGccatgatgaacaggaaggat	13	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:12220513G>T	uc002dby.4	+	11	1488	c.271G>T	c.(271-273)Gcc>Tcc	p.A91S	SNX29_uc010uyx.1_Missense_Mutation_p.A118S	NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.	91					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GGCCACTGTGGCCATGATGAA	0.488													T	12220513	G	T	12220513	3	4	4	1	0	0	0	0	1	0	0	0	14898	1203	42	5	285	5	SNX29	16	12220513	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	288845	12220513	78134240	3493	5558											
SNX29	92017	broad.mit.edu	37	chr16	12618607	12618607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagctccagaattacctgCgcagcgtcatgaacaaagtc	9	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:12618607C>T	uc002dby.4	+	19	2289	c.1072C>T	c.(1072-1074)Cgc>Tgc	p.R358C		NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.	358	PX.				cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GAATTACCTGCGCAGCGTCAT	0.522													T	12618607	C	T	12618607	3	4	4	1	0	0	0	0	1	0	0	0	14898	768	27	1	1118	1	SNX29	16	12618607	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	398094	12618607	77736146	3494	5559											
PARN	5073	broad.mit.edu	37	chr16	14576504	14576504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctcttacctattgttgCggtaatagtgattctgcagg	11	7	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:14576504C>T	uc010uzd.2	-	21	1807	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H	PARN_uc010uzc.2_Missense_Mutation_p.R493H|PARN_uc010uze.2_Missense_Mutation_p.R508H|PARN_uc010uzf.2_Missense_Mutation_p.R379H	NM_002582	NP_001127949	O95453	PARN_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN), transcript variant 1, mRNA.	554					RNA modification|female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleolus	mRNA 3'-UTR binding|metal ion binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						CCTATTGTTGCGGTAATAGTG	0.428													T	14576504	C	T	14576504	3	4	4	1	0	0	0	0	1	0	0	0	11453	768	27	1	270	1	PARN	16	14576504	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1957897	14576504	75778249	3495	5560											
PARN	5073	broad.mit.edu	37	chr16	14687198	14687198	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgatgaactgtgtgcatgAcgtccaagagcatattgtgt	11	7	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:14687198A>G	uc010uzd.2	-	12	1024	c.878T>C	c.(877-879)gTc>gCc	p.V293A	PARN_uc010uzc.2_Missense_Mutation_p.V232A|PARN_uc010uze.2_Missense_Mutation_p.V247A|PARN_uc010uzf.2_Missense_Mutation_p.V118A	NM_002582	NP_001127949	O95453	PARN_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN), transcript variant 1, mRNA.	293					RNA modification|female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleolus	mRNA 3'-UTR binding|metal ion binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TGTGTGCATGACGTCCAAGAG	0.373													G	14687198	A	G	14687198	3	3	4	1	0	0	0	0	1	0	0	0	11453	275	10	3	1089	3	PARN	16	14687198	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	110694	14687198	75667555	3496	5561											
KIAA0430	9665	broad.mit.edu	37	chr16	15714321	15714321	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacttactttttttcatagaTatctgtaaatttaaacagag	4	5	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:15714321T>C	uc002ddr.3	-	12	2914	c.2707A>G	c.(2707-2709)Atc>Gtc	p.I903V	KIAA0430_uc002ddq.3_Missense_Mutation_p.I737V|KIAA0430_uc010uzv.2_Missense_Mutation_p.I900V|KIAA0430_uc010uzw.2_Missense_Mutation_p.I903V	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	902						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTTTCATAGATATCTGTAAAT	0.383													C	15714321	T	C	15714321	3	2	4	1	0	0	0	0	1	0	0	0	8177	1406	49	3	2581	3	KIAA0430	16	15714321	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1027123	15714321	74640432	3497	5562											
KIAA0430	9665	broad.mit.edu	37	chr16	15727651	15727651	+	Frame_Shift_Del	DEL	G	G	-													atatcccaaaaaactccaatGgggggtaagttttctagcac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:15727650_15727650TG>T	uc002ddr.3	-	4	1264	c.1057_1057CA>A	c.(1057-1059)attfs	p.I353fs	KIAA0430_uc002ddq.3_Frame_Shift_Del_p.I352fs|KIAA0430_uc010uzv.2_Frame_Shift_Del_p.I350fs|KIAA0430_uc010uzw.2_Frame_Shift_Del_p.I353fs	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	352						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AAAACTCCAATGGGGGGTAAG	0.428													-	15727651	G	-	15727651	7	5	4	1	0	1	0	1	0	0	0	0	8177	1335	47	0	4267	0	KIAA0430	16	15727651	Frame_Shift_Del	DEL	G	TCGA-BR-4184-01A-01D-1126-08	13330	15727651	74627102	3498	5563											
MYH11	4629	broad.mit.edu	37	chr16	15835710	15835712	+	In_Frame_Del	DEL	CTC	CTC	-													tcatcctccttggcctgcatCtcctcctcctgccgtgtcac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:15835709_15835711TCTC>T	uc002ddx.3	-	21	2686_2688	c.2579_2581GAGA>A	c.(2578-2583)gagatg>gAtg	p.860_861EM>D	MYH11_uc002ddv.3_In_Frame_Del_p.860_861EM>D|MYH11_uc002ddw.3_In_Frame_Del_p.853_854EM>D|MYH11_uc002ddy.3_In_Frame_Del_p.853_854EM>D|MYH11_uc010bvg.3_In_Frame_Del_p.685_686EM>D	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	853					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TTGGCCTGCATCTCCTCCTCCTG	0.517			T	CBFB	AML								-	15835712	CTC	-	15835710	7	5	4	1	0	1	0	1	0	0	0	0	10031	912	32	0	3478	0	MYH11	16	15835710	In_Frame_Del	DEL	CTC	TCGA-BR-4184-01A-01D-1126-08	108059	15835710	74519043	3499	5564											
ABCC1	4363	broad.mit.edu	37	chr16	16208889	16208889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggccacgcccatcgccGccatcatcatcccgcccctt	7	21	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:16208889G>A	uc010bvi.3	+	22	3521	c.3346G>A	c.(3346-3348)Gcc>Acc	p.A1116T	ABCC1_uc010bvj.3_Missense_Mutation_p.A1057T|ABCC1_uc010bvk.3_Missense_Mutation_p.A1060T|ABCC1_uc010bvl.3_Missense_Mutation_p.A1116T|ABCC1_uc010bvm.3_Missense_Mutation_p.A1001T|ABCC1_uc002del.4_Missense_Mutation_p.A1010T|ABCC1_uc021tds.1_Non-coding_Transcript|ABCC1_uc021tdt.1_Missense_Mutation_p.A82T	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	1116	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A1115T(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GCCCATCGCCGCCATCATCAT	0.547													A	16208889	G	A	16208889	3	1	4	1	0	0	0	0	1	0	0	0	49	1087	38	1	3436	1	ABCC1	16	16208889	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	373179	16208889	74145864	3500	5565											
XYLT1	64131	broad.mit.edu	37	chr16	17294440	17294440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaccaccaggacaaaggCgattctgaccgggttggctg	15	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:17294440C>T	uc002dfa.3	-	3	1070	c.985G>A	c.(985-987)Gcc>Acc	p.A329T		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	329					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGGACAAAGGCGATTCTGACC	0.552													T	17294440	C	T	17294440	3	4	4	1	0	0	0	0	1	0	0	0	17460	768	27	1	1930	1	XYLT1	16	17294440	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1085551	17294440	73060313	3501	5566											
TMC7	79905	broad.mit.edu	37	chr16	19070909	19070909	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggagggagtgaaattActgcagccttctctcaccac	10	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:19070909A>G	uc002dfp.2	+	14	2329	c.2199A>G	c.(2197-2199)ttA>ttG	p.L733L	TMC7_uc002dfq.3_Intron|TMC7_uc010vap.2_Intron	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	0						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GAGTGAAATTACTGCAGCCTT	0.512													G	19070909	A	G	19070909	2	3	4	1	0	0	0	0	0	0	0	1	15987	406	14	3		3	TMC7	16	19070909	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1776469	19070909	71283844	3502	5567											
TMC5	79838	broad.mit.edu	37	chr16	19483429	19483429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaacctgtcagagctccGtcaggagaattccaagttga	12	9	2	4	rs141710338	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:19483429G>A	uc002dgc.4	+	10	2551	c.1802G>A	c.(1801-1803)cGt>cAt	p.R601H	TMC5_uc010vaq.2_Intron|TMC5_uc002dgb.4_Missense_Mutation_p.R601H|TMC5_uc010var.2_Missense_Mutation_p.R601H|TMC5_uc002dgd.1_Missense_Mutation_p.R355H|TMC5_uc002dge.4_Missense_Mutation_p.R355H|TMC5_uc002dgf.4_Missense_Mutation_p.R284H|TMC5_uc002dgg.4_Missense_Mutation_p.R242H	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	601						integral to membrane		p.T600T(2)|p.R601H(1)|p.R355H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCAGAGCTCCGTCAGGAGAAT	0.532													A	19483429	G	A	19483429	3	1	4	1	0	0	0	0	1	0	0	0	15985	1145	40	1	2150	1	TMC5	16	19483429	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	412520	19483429	70871324	3503	5568											
C16orf88	400506	broad.mit.edu	37	chr16	19725908	19725908	+	Frame_Shift_Del	DEL	T	T	-													ccctttttttccttcttgtgTtttttgagcttcttgccaac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:19725907_19725907GT>G	uc002dgq.3	-	1	466	c.451_451AC>C	c.(451-453)cacfs	p.H151fs	IQCK_uc002dgr.3_5'Flank|IQCK_uc002dgs.3_5'Flank	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	Homo sapiens chromosome 16 open reading frame 88 (C16orf88), mRNA.	151	Lys-rich.					nucleolus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	13						TCCTTCTTGTGTTTTTTGAGC	0.567													-	19725908	T	-	19725908	7	5	4	1	0	1	0	1	0	0	0	0	1841	1722	60	0	942	0	C16orf88	16	19725908	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	242479	19725908	70628845	3504	5569											
GPRC5B	51704	broad.mit.edu	37	chr16	19884011	19884011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccacaatgccccagatggCgtccaggtcgcacagggaca	11	15	0	1	rs137970804	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:19884011C>T	uc010vav.2	-	1	466	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	GPRC5B_uc021tef.1_Missense_Mutation_p.A45T|GPRC5B_uc002dgt.3_Missense_Mutation_p.A53T	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	53										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCCCAGATGGCGTCCAGGTCG	0.647													T	19884011	C	T	19884011	3	4	4	1	0	0	0	0	1	0	0	0	6725	768	27	1	1066	1	GPRC5B	16	19884011	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	158103	19884011	70470742	3505	5570											
PDILT	204474	broad.mit.edu	37	chr16	20396001	20396001	+	Frame_Shift_Del	DEL	A	A	-													ggctctgacctgttgccctcAaaaaacagcttcaactccgg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:20396000_20396000CA>C	uc002dhc.1	-	2	599	c.376_376TG>G	c.(376-378)gagfs	p.E126fs		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	126					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CTGTTGCCCTCAAAAAACAGC	0.478													-	20396001	A	-	20396001	7	5	4	1	0	1	0	1	0	0	0	0	11674	127	5	0	1419	0	PDILT	16	20396001	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	511990	20396001	69958752	3506	5571											
PDILT	204474	broad.mit.edu	37	chr16	20410510	20410510	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgcgttcctccaggatgTgcacaggcttggttatgtgg	14	9	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:20410510T>C	uc002dhc.1	-	1	336	c.113A>G	c.(112-114)cAc>cGc	p.H38R		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	38					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CTCCAGGATGTGCACAGGCTT	0.597													C	20410510	T	C	20410510	3	2	4	1	0	0	0	0	1	0	0	0	11674	1696	59	3	1685	3	PDILT	16	20410510	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	14509	20410510	69944243	3507	5572											
DNAH3	55567	broad.mit.edu	37	chr16	21033308	21033308	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttaccaagcagagaagagtAcagtctcatcattgagaagg	10	8	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:21033308A>G	uc010vbe.2	-	39	5761	c.5761T>C	c.(5761-5763)Tac>Cac	p.Y1921H		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1921					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGAGAAGAGTACAGTCTCATC	0.463													G	21033308	A	G	21033308	3	3	4	1	0	0	0	0	1	0	0	0	4603	391	14	3	6680	3	DNAH3	16	21033308	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	622798	21033308	69321445	3508	5573											
DNAH3	55567	broad.mit.edu	37	chr16	21080787	21080787	+	Frame_Shift_Del	DEL	C	C	-													tcaacaatgccaaatttcctCccctcttctggcatctgggc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:21080786_21080786TC>T	uc010vbe.2	-	22	3331	c.3331_3331GA>A	c.(3331-3333)aggfs	p.R1111fs		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1111	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCAAATTTCCTCCCCTCTTCT	0.428													-	21080787	C	-	21080787	7	5	4	1	0	1	0	1	0	0	0	0	4603	842	30	0	9179	0	DNAH3	16	21080787	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	47479	21080787	69273966	3509	5574											
EEF2K	29904	broad.mit.edu	37	chr16	22260086	22260086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctctgcaggtacaacgccGtcaccggggaatggctggat	14	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:22260086G>A	uc002dki.3	+	3	843	c.358G>A	c.(358-360)Gtc>Atc	p.V120I	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	120	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GTACAACGCCGTCACCGGGGA	0.572													A	22260086	G	A	22260086	3	1	4	1	0	0	0	0	1	0	0	0	4930	1145	40	1	368	1	EEF2K	16	22260086	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1179299	22260086	68094667	3510	5575											
USP31	57478	broad.mit.edu	37	chr16	23079707	23079707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgccaagatccgtcgagCgccgggtttccttctgtctc	10	14	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:23079707C>T	uc002dll.3	-	15	3719	c.3719G>A	c.(3718-3720)cGc>cAc	p.R1240H	USP31_uc002dlk.3_Missense_Mutation_p.R512H|USP31_uc010vca.2_Missense_Mutation_p.R543H|USP31_uc010bxm.3_Missense_Mutation_p.R528H	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	1240					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		ATCCGTCGAGCGCCGGGTTTC	0.537													T	23079707	C	T	23079707	3	4	4	1	0	0	0	0	1	0	0	0	17059	768	27	1	343	1	USP31	16	23079707	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	819621	23079707	67275046	3511	5576											
SCNN1G	6340	broad.mit.edu	37	chr16	23197805	23197805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcatcctctggcagtgCgccctcctcgtcttctcctt	7	19	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:23197805C>T	uc002dlm.1	+	1	352	c.213C>T	c.(211-213)tgC>tgT	p.C71C		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	71					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCTGGCAGTGCGCCCTCCTCG	0.597													T	23197805	C	T	23197805	2	4	4	1	0	0	0	0	0	0	0	1	13930	776	27	1		1	SCNN1G	16	23197805	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	118098	23197805	67156948	3512	5577											
SCNN1B	6338	broad.mit.edu	37	chr16	23364329	23364329	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggagacaaccacaatggCttaacaagcagctcagcatc	8	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:23364329C>T	uc002dln.3	+	2	695	c.519C>T	c.(517-519)ggC>ggT	p.G173G		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	173					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ACCACAATGGCTTAACAAGCA	0.502													T	23364329	C	T	23364329	2	4	4	1	0	0	0	0	0	0	0	1	13928	784	28	2		2	SCNN1B	16	23364329	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	166524	23364329	66990424	3513	5578											
COG7	91949	broad.mit.edu	37	chr16	23421653	23421653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgaagtccccacaatgccGcaaaagctctccacaggtgg	9	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:23421653G>A	uc002dlo.3	-	10	1635	c.1438C>T	c.(1438-1440)Cgg>Tgg	p.R480W		NM_153603	NP_705831	P83436	COG7_HUMAN	Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.	480					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	p.R480Q(1)		breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CCACAATGCCGCAAAAGCTCT	0.478													A	23421653	G	A	23421653	3	1	4	1	0	0	0	0	1	0	0	0	3663	1086	38	1	902	1	COG7	16	23421653	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	57324	23421653	66933100	3514	5579											
PRKCB	5579	broad.mit.edu	37	chr16	23847557	23847557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagagcaccgtgcgcttcGcccgcaaaggcgccctccgg	14	16	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:23847557G>A	uc002dmd.3	+	0	258	c.61G>A	c.(61-63)Gcc>Acc	p.A21T	PRKCB_uc002dme.3_Missense_Mutation_p.A21T	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	21					B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CGTGCGCTTCGCCCGCAAAGG	0.697													A	23847557	G	A	23847557	3	1	4	1	0	0	0	0	1	0	0	0	12508	1087	38	1	63	1	PRKCB	16	23847557	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	425904	23847557	66507196	3515	5580											
RBBP6	5930	broad.mit.edu	37	chr16	24567768	24567768	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaataccaactatagatgCgtaagtatgcaaattaggta	8	6	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:24567768C>T	uc002dmh.3	+	7	1714	c.674_splice	c.e7+1	p.A225_splice	RBBP6_uc010vcb.1_Splice_Site_p.A92_splice|RBBP6_uc002dmi.3_Splice_Site_p.A225_splice|RBBP6_uc010bxr.3_Splice_Site_p.A225_splice|RBBP6_uc002dmk.3_Splice_Site_p.A92_splice	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	225					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ACTATAGATGCGTAAGTATGC	0.398													T	24567768	C	T	24567768	5	4	4	1	0	0	0	0	0	0	1	0	13103	782	27	1	754	1	RBBP6	16	24567768	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	720211	24567768	65786985	3516	5581											
RBBP6	5930	broad.mit.edu	37	chr16	24583525	24583525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggaagccagacccgaaGccacagtagcagtgccagct	11	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:24583525G>A	uc002dmh.3	+	17	6178	c.5138G>A	c.(5137-5139)aGc>aAc	p.S1713N	RBBP6_uc002dmi.3_Missense_Mutation_p.S1679N|RBBP6_uc010bxr.3_Missense_Mutation_p.S873N|RBBP6_uc002dmk.3_Missense_Mutation_p.S1546N|DQ573285_uc021tfm.1_5'Flank	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1713					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CAGACCCGAAGCCACAGTAGC	0.502													A	24583525	G	A	24583525	3	1	4	1	0	0	0	0	1	0	0	0	13103	971	34	2	5262	2	RBBP6	16	24583525	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	15757	24583525	65771228	3517	5582											
ARHGAP17	55114	broad.mit.edu	37	chr16	24942549	24942549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgagagctgggagggggCggagggctggcctggaggct	23	7	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:24942549C>T	uc002dnb.3	-	18	2164	c.2071G>A	c.(2071-2073)Gcc>Acc	p.A691T	ARHGAP17_uc002dmw.3_5'UTR|ARHGAP17_uc002dmy.3_Missense_Mutation_p.A136T|ARHGAP17_uc002dmz.3_Missense_Mutation_p.A215T|ARHGAP17_uc002dna.3_Missense_Mutation_p.A418T|ARHGAP17_uc002dnc.3_Missense_Mutation_p.A613T|ARHGAP17_uc010vcf.2_Missense_Mutation_p.A434T	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	691	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TGGGAGGGGGCGGAGGGCTGG	0.672													T	24942549	C	T	24942549	3	4	4	1	0	0	0	0	1	0	0	0	867	768	27	1	582	1	ARHGAP17	16	24942549	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	359024	24942549	65412204	3518	5583											
IL4R	3566	broad.mit.edu	37	chr16	27370284	27370284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaacccagcccgcagccGcctcgtggctataataatcc	7	18	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:27370284G>A	uc002don.3	+	8	1060	c.818G>A	c.(817-819)cGc>cAc	p.R273H	IL4R_uc002dop.4_Missense_Mutation_p.R258H|IL4R_uc010bxy.3_Missense_Mutation_p.R273H|IL4R_uc002doo.3_Missense_Mutation_p.R113H	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	273					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GCCCGCAGCCGCCTCGTGGCT	0.483													A	27370284	G	A	27370284	3	1	4	1	0	0	0	0	1	0	0	0	7698	1087	38	1	862	1	IL4R	16	27370284	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2427735	27370284	62984469	3519	5584											
GTF3C1	2975	broad.mit.edu	37	chr16	27481652	27481652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaacttgccggcagcccGcattctgtccaaaaactgga	9	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:27481652G>A	uc002dov.2	-	30	4631	c.4591C>T	c.(4591-4593)Cgg>Tgg	p.R1531W	GTF3C1_uc002dou.3_Missense_Mutation_p.R1531W	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1531						transcription factor TFIIIC complex	DNA binding|protein binding	p.R1531Q(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCGGCAGCCCGCATTCTGTCC	0.512													A	27481652	G	A	27481652	3	1	4	1	0	0	0	0	1	0	0	0	6872	1086	38	1	1766	1	GTF3C1	16	27481652	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	111368	27481652	62873101	3520	5585											
GTF3C1	2975	broad.mit.edu	37	chr16	27509009	27509009	+	Frame_Shift_Del	DEL	T	T	-													tatgcccattttattatcacTttttttcatccgtccacttt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:27509009delT	uc002dov.1	-	14	2339	c.2299delA	c.(2299-2301)AGTfs	p.S767fs	GTF3C1_uc002dou.2_Frame_Shift_Del_p.S767fs	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	767						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						TTATTATCACTTTTTTTCATC	0.433													-	27509009	T	-	27509009	7	5	4	1	0	1	0	1	0	0	0	0	6872	1609	56	0	4126	0	GTF3C1	16	27509009	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	27357	27509009	62845744	3521	5586											
KIAA0556	23247	broad.mit.edu	37	chr16	27709701	27709701	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacccgcaaaactctttgCgaggctgagtacccagagga	11	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:27709701C>T	uc002dow.3	+	8	1017	c.993C>T	c.(991-993)tgC>tgT	p.C331C	KIAA0556_uc002dox.1_Silent_p.C239C	NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	331										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AAACTCTTTGCGAGGCTGAGT	0.587													T	27709701	C	T	27709701	2	4	4	1	0	0	0	0	0	0	0	1	8183	776	27	1		1	KIAA0556	16	27709701	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	200692	27709701	62645052	3522	5587											
SEZ6L2	26470	broad.mit.edu	37	chr16	29889661	29889661	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacgtgcacgccccacacGcagtcttggcccgggctata	12	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:29889661G>A	uc010vec.2	-	9	1904	c.1659C>T	c.(1657-1659)tgC>tgT	p.C553C	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Silent_p.C483C|SEZ6L2_uc002dur.4_Silent_p.C483C|SEZ6L2_uc002duq.4_Silent_p.C553C|SEZ6L2_uc010ved.2_Silent_p.C509C|SEZ6L2_uc002dus.4_Silent_p.C439C	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	553	CUB 3.					endoplasmic reticulum membrane|integral to membrane|plasma membrane		p.C553C(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGCCCCACACGCAGTCTTGGC	0.607													A	29889661	G	A	29889661	2	1	4	1	0	0	0	0	0	0	0	1	14144	1079	38	1		1	SEZ6L2	16	29889661	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2179960	29889661	60465092	3523	5588											
TBX6	6911	broad.mit.edu	37	chr16	30100018	30100018	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcagggtcactcacctgtGggttctggtaggctgtcacg	14	10	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:30100018G>T	uc010veh.2	-	4	824	c.764C>A	c.(763-765)cCa>cAa	p.P255Q	BOLA2_uc010bzb.1_Intron|TBX6_uc002dwk.1_Missense_Mutation_p.P255Q	NM_004608	NP_004599	O95947	TBX6_HUMAN	Homo sapiens T-box 6 (TBX6), mRNA.	255					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						ACTCACCTGTGGGTTCTGGTA	0.617													T	30100018	G	T	30100018	3	4	4	1	0	0	0	0	1	0	0	0	15659	1348	47	5	566	5	TBX6	16	30100018	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	210357	30100018	60254735	3524	5589											
ZNF764	92595	broad.mit.edu	37	chr16	30569345	30569345	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtaggtctcccgcatcacGtcccggtacagggccctctg	11	17	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:30569345G>A	uc002dyq.3	-	0	298	c.159C>T	c.(157-159)gaC>gaT	p.D53D	ZNF764_uc002dyr.2_Silent_p.D53D	NM_033410	NP_219363	Q96H86	ZN764_HUMAN	Homo sapiens zinc finger protein 764 (ZNF764), transcript variant 1, mRNA.	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						CCCGCATCACGTCCCGGTACA	0.726													A	30569345	G	A	30569345	2	1	4	1	0	0	0	0	0	0	0	1	18135	1136	40	1		1	ZNF764	16	30569345	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	469327	30569345	59785408	3525	5590											
SRCAP	10847	broad.mit.edu	37	chr16	30732759	30732759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgactcctgcaccacagcGcctcattctatctcccgata	5	18	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:30732759G>A	uc002dze.1	+	20	3888	c.3503G>A	c.(3502-3504)cGc>cAc	p.R1168H	SRCAP_uc021tgn.1_Missense_Mutation_p.R1168H|SRCAP_uc002dzf.3_Intron|SRCAP_uc002dzg.1_Missense_Mutation_p.R1025H	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1168	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCACCACAGCGCCTCATTCTA	0.597													A	30732759	G	A	30732759	3	1	4	1	0	0	0	0	1	0	0	0	15134	1087	38	1	3577	1	SRCAP	16	30732759	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	163414	30732759	59621994	3526	5591											
PHKG2	5261	broad.mit.edu	37	chr16	30768236	30768236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttatgcgctgcggtcagtgCggcacctcatcgacaactgt	11	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:30768236C>T	uc002dzk.2	+	9	1249	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	PHKG2_uc021tgo.1_Missense_Mutation_p.R347W	NM_000294	NP_000285	P15735	PHKG2_HUMAN	Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA.	347	Calmodulin-binding (domain-C) (By similarity).				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			GCGGTCAGTGCGGCACCTCAT	0.622													T	30768236	C	T	30768236	3	4	4	1	0	0	0	0	1	0	0	0	11847	759	27	1	1073	1	PHKG2	16	30768236	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	35477	30768236	59586517	3527	5592											
RNF40	9810	broad.mit.edu	37	chr16	30780692	30780692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagaaggatgagttgggCgagcaggtccttggcctcaa	17	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:30780692C>T	uc002dzq.3	+	15	3253	c.2433C>T	c.(2431-2433)ggC>ggT	p.G811G	RNF40_uc010caa.3_Silent_p.G811G|RNF40_uc010cab.3_Silent_p.G711G|RNF40_uc010vfa.2_Silent_p.G143G|RNF40_uc010vfb.2_Silent_p.G503G|RNF40_uc002dzr.3_Silent_p.G811G|RNF40_uc010vfc.1_Silent_p.G143G	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.	811					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			ATGAGTTGGGCGAGCAGGTCC	0.582													T	30780692	C	T	30780692	2	4	4	1	0	0	0	0	0	0	0	1	13493	755	27	1		1	RNF40	16	30780692	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	12456	30780692	59574061	3528	5593											
ZNF629	23361	broad.mit.edu	37	chr16	30794300	30794300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctcaccggtgtggatgCgctggtggcggataagggtg	18	8	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:30794300C>T	uc002dzs.1	-	2	1557	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGTGTGGATGCGCTGGTGGCG	0.637													T	30794300	C	T	30794300	3	4	4	1	0	0	0	0	1	0	0	0	18050	768	27	1	1264	1	ZNF629	16	30794300	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	13608	30794300	59560453	3529	5594											
ZNF629	23361	broad.mit.edu	37	chr16	30794364	30794364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtcggcgcagatgtaggGccgctcgccgcggtggatgc	18	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:30794364G>A	uc002dzs.1	-	2	1493	c.1285C>T	c.(1285-1287)Ccc>Tcc	p.P429S		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CAGATGTAGGGCCGCTCGCCG	0.632													A	30794364	G	A	30794364	3	1	4	1	0	0	0	0	1	0	0	0	18050	1203	42	2	1328	2	ZNF629	16	30794364	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	64	30794364	59560389	3530	5595											
SETD1A	9739	broad.mit.edu	37	chr16	30976445	30976445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagttcggacttccccccGcccagcctcccctgcccgct	8	21	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:30976445G>A	uc002ead.1	+	6	2068	c.1382G>A	c.(1381-1383)cGc>cAc	p.R461H		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	461	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ACTTCCCCCCGCCCAGCCTCC	0.687													A	30976445	G	A	30976445	3	1	4	1	0	0	0	0	1	0	0	0	14130	1087	38	1	1404	1	SETD1A	16	30976445	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	182081	30976445	59378308	3531	5596											
ZNF668	79759	broad.mit.edu	37	chr16	31075337	31075337	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcttggagagcgcgccataGgccttcgggcagtgcgcaca	15	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:31075337G>T	uc021tgt.1	-	2	869	c.513C>A	c.(511-513)gcC>gcA	p.A171A	ZNF668_uc010cag.2_Silent_p.A148A|ZNF668_uc010caf.3_Silent_p.A148A|ZNF668_uc002eao.3_Silent_p.A148A	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCGCGCCATAGGCCTTCGGGC	0.687													T	31075337	G	T	31075337	2	4	4	1	0	0	0	0	0	0	0	1	18072	987	35	5		5	ZNF668	16	31075337	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	98892	31075337	59279416	3532	5597											
ITGAM	3684	broad.mit.edu	37	chr16	31342999	31342999	+	Frame_Shift_Del	DEL	G	G	-													acaaggacatgatgagtgaaGggggtcccccgggggccgaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:31342999delG	uc002ebq.2	+	30	3528	c.3430delG	c.(3430-3432)GGGfs	p.G1144fs	ITGAM_uc002ebr.2_Frame_Shift_Del_p.G1145fs|ITGAM_uc010can.2_Frame_Shift_Del_p.G550fs	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	1144	Cytoplasmic (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						GATGAGTGAAGGGGGTCCCCC	0.672													-	31342999	G	-	31342999	7	5	4	1	0	1	0	1	0	0	0	0	7887	1000	35	0	3551	0	ITGAM	16	31342999	Frame_Shift_Del	DEL	G	TCGA-BR-4184-01A-01D-1126-08	267662	31342999	59011754	3533	5598											
VPS35	55737	broad.mit.edu	37	chr16	46712899	46712899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttccaactgactgaggcGcaccaaatttgttcccacta	6	14	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:46712899G>A	uc002eef.4	-	5	775	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	VPS35_uc002eed.3_Missense_Mutation_p.R47C|VPS35_uc002eee.3_Missense_Mutation_p.R187C	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA.	226					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TGACTGAGGCGCACCAAATTT	0.393													A	46712899	G	A	46712899	3	1	4	1	0	0	0	0	1	0	0	0	17200	1087	38	1	1762	1	VPS35	16	46712899	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	15369900	46712899	43641854	3534	5599											
NETO2	81831	broad.mit.edu	37	chr16	47117246	47117246	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctgctcagggcactcatgTccctgtttgaaagtgtaact	10	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:47117246T>C	uc002eer.2	-	8	1877	c.1464A>G	c.(1462-1464)ggA>ggG	p.G488G	NETO2_uc002eeq.2_Silent_p.G223G|NETO2_uc010vgf.2_Silent_p.G481G	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 2 (NETO2), transcript variant 1, mRNA.	488						integral to membrane	receptor activity	p.Q487H(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				GGCACTCATGTCCCTGTTTGA	0.448										HNSCC(25;0.065)			C	47117246	T	C	47117246	2	2	4	1	0	0	0	0	0	0	0	1	10340	1654	58	3		3	NETO2	16	47117246	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	404347	47117246	43237507	3535	5600											
ITFG1	81533	broad.mit.edu	37	chr16	47294547	47294547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactttaaacattcgacgcGcctcttcacagcttgcatta	6	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:47294547G>A	uc002eet.3	-	10	1189	c.1130C>T	c.(1129-1131)gCg>gTg	p.A377V	ITFG1_uc010vgg.2_Missense_Mutation_p.A122V|ITFG1_uc010vgh.2_Missense_Mutation_p.A264V	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 1 (ITFG1), mRNA.	377						extracellular region|integral to membrane		p.E376K(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CATTCGACGCGCCTCTTCACA	0.433													A	47294547	G	A	47294547	3	1	4	1	0	0	0	0	1	0	0	0	7869	1087	38	1	740	1	ITFG1	16	47294547	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	177301	47294547	43060206	3536	5601											
ABCC12	94160	broad.mit.edu	37	chr16	48134814	48134814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctccttcttgccataggCgtgaatgatgcccaggccct	10	14	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:48134814C>T	uc002efc.1	-	20	3353	c.3007G>A	c.(3007-3009)Gcc>Acc	p.A1003T	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	1003	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTGCCATAGGCGTGAATGATG	0.607													T	48134814	C	T	48134814	3	4	4	1	0	0	0	0	1	0	0	0	52	768	27	1	1108	1	ABCC12	16	48134814	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	840267	48134814	42219939	3537	5602											
ABCC11	85320	broad.mit.edu	37	chr16	48250120	48250120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagatgaccagcgatgCgcaggtgatcagtactaggg	15	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:48250120C>T	uc002eff.1	-	5	1206	c.856G>A	c.(856-858)Gca>Aca	p.A286T	ABCC11_uc002efg.1_Missense_Mutation_p.A286T|ABCC11_uc002efh.1_Missense_Mutation_p.A286T|ABCC11_uc010vgk.1_5'Flank|ABCC11_uc010vgl.1_Missense_Mutation_p.A286T	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	286	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				ACCAGCGATGCGCAGGTGATC	0.473													T	48250120	C	T	48250120	3	4	4	1	0	0	0	0	1	0	0	0	51	768	27	1	3388	1	ABCC11	16	48250120	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	115306	48250120	42104633	3538	5603											
LONP2	83752	broad.mit.edu	37	chr16	48381516	48381516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcgagtcgaatggatggCgagggccagttaactctgac	16	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:48381516C>T	uc002efi.1	+	12	2126	c.2037C>T	c.(2035-2037)ggC>ggT	p.G679G	MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Silent_p.G635G	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	679					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAATGGATGGCGAGGGCCAGT	0.567													T	48381516	C	T	48381516	2	4	4	1	0	0	0	0	0	0	0	1	8893	755	27	1		1	LONP2	16	48381516	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	131396	48381516	41973237	3539	5604											
CBLN1	869	broad.mit.edu	37	chr16	49315138	49315138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagtagatgatcatggtgCgattactcatctcggacggc	12	9	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:49315138C>T	uc002efq.3	-	0	605	c.239G>A	c.(238-240)cGc>cAc	p.R80H		NM_004352	NP_004343	P23435	CBLN1_HUMAN	Homo sapiens cerebellin 1 precursor (CBLN1), mRNA.	80	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).				nervous system development|synaptic transmission	cell junction|extracellular region|synapse		p.R80H(2)		breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				GATCATGGTGCGATTACTCAT	0.607													T	49315138	C	T	49315138	3	4	4	1	0	0	0	0	1	0	0	0	2704	768	27	1	354	1	CBLN1	16	49315138	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	933622	49315138	41039615	3540	5605											
ADCY7	113	broad.mit.edu	37	chr16	50342601	50342601	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcccagctcgggggacGctctgcactatctctgagag	13	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:50342601G>A	uc002egd.1	+	15	2227	c.1959G>A	c.(1957-1959)acG>acA	p.T653T	ADCY7_uc002egc.2_Silent_p.T653T	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	653					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CTCGGGGGACGCTCTGCACTA	0.652													A	50342601	G	A	50342601	2	1	4	1	0	0	0	0	0	0	0	1	299	1074	38	1		1	ADCY7	16	50342601	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1027463	50342601	40012152	3541	5606											
BRD7	29117	broad.mit.edu	37	chr16	50388806	50388806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcctcattctccacccGgtctcgatctcgcttctttt	5	16	6	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:50388806G>A	uc021thx.1	-	2	446	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	BRD7_uc002ege.2_Missense_Mutation_p.R96W	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	Homo sapiens bromodomain containing 7 (BRD7), transcript variant 2, mRNA.	96				R -> Q (in Ref. 1; AAF19526).	Wnt receptor signaling pathway|cell cycle|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TTCTCCACCCGGTCTCGATCT	0.398													A	50388806	G	A	50388806	3	1	4	1	0	0	0	0	1	0	0	0	1505	1115	39	1	1732	1	BRD7	16	50388806	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	46205	50388806	39965947	3542	5607											
NKD1	85407	broad.mit.edu	37	chr16	50659407	50659407	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatccaggagctccagtgCgacgtgtccatggaggagga	15	10	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:50659407C>T	uc002egg.2	+	5	602	c.378C>T	c.(376-378)tgC>tgT	p.C126C		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	126	Interaction with DVL1, DVL2 and DVL3 (By similarity).				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGCTCCAGTGCGACGTGTCCA	0.612													T	50659407	C	T	50659407	2	4	4	1	0	0	0	0	0	0	0	1	10441	776	27	1		1	NKD1	16	50659407	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	270601	50659407	39695346	3543	5608											
NOD2	64127	broad.mit.edu	37	chr16	50763760	50763760	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgcatcacctacctagggGcagaagccctcctgcaggcc	10	16	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:50763760G>T	uc002egm.1	+	10	3103	c.2998G>T	c.(2998-3000)Gca>Tca	p.A1000S	NOD2_uc010vgq.1_Missense_Mutation_p.A45S	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	1000					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CTACCTAGGGGCAGAAGCCCT	0.488													T	50763760	G	T	50763760	3	4	4	1	0	0	0	0	1	0	0	0	10517	1203	42	5	3040	5	NOD2	16	50763760	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	104353	50763760	39590993	3544	5609											
CHD9	80205	broad.mit.edu	37	chr16	53331022	53331022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttggaaaaatatttgtacGcattcatgtccatgtgtcgg	10	6	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:53331022G>A	uc002ehb.3	+	28	5829	c.5665G>A	c.(5665-5667)Gca>Aca	p.A1889T	CHD9_uc002egy.3_Missense_Mutation_p.A1889T|CHD9_uc002ehc.3_Missense_Mutation_p.A1889T|CHD9_uc002ehf.3_Missense_Mutation_p.A1003T|CHD9_uc002ehg.2_Missense_Mutation_p.A1003T|CHD9_uc010cbw.3_Missense_Mutation_p.A257T	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	1889					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATATTTGTACGCATTCATGTC	0.378													A	53331022	G	A	53331022	3	1	4	1	0	0	0	0	1	0	0	0	3332	1087	38	1	5779	1	CHD9	16	53331022	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2567262	53331022	37023731	3545	5610											
CHD9	80205	broad.mit.edu	37	chr16	53358035	53358035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaagtggaattgcaaaggCcacagcagcagcagctgctg	12	9	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:53358035C>T	uc002ehb.3	+	37	8086	c.7922C>T	c.(7921-7923)gCc>gTc	p.A2641V	CHD9_uc002egy.3_Missense_Mutation_p.A2625V|CHD9_uc002ehc.3_Missense_Mutation_p.A2626V|CHD9_uc002ehf.3_Missense_Mutation_p.A1739V|CHD9_uc002ehg.2_Missense_Mutation_p.A1756V|CHD9_uc010cbw.3_Missense_Mutation_p.A707V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	2641	Poly-Ala.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.K2641T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATTGCAAAGGCCACAGCAGCA	0.512													T	53358035	C	T	53358035	3	4	4	1	0	0	0	0	1	0	0	0	3332	739	26	2	8024	2	CHD9	16	53358035	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	27013	53358035	36996718	3546	5611											
RBL2	5934	broad.mit.edu	37	chr16	53487517	53487517	+	Frame_Shift_Del	DEL	A	A	-													ctatattaggaaactttatgAaaaaaaggtttgtaagtagc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:53487516_53487516GA>G	uc002ehi.4	+	5	1037	c.919_919GA>G	c.(919-921)gaafs	p.E307fs	RBL2_uc010vgv.1_Frame_Shift_Del_p.E233fs|RBL2_uc002ehj.3_5'UTR|RBL2_uc010vgw.2_Frame_Shift_Del_p.E91fs	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	307					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAAACTTTATGAAAAAAAGGT	0.333													-	53487517	A	-	53487517	7	5	4	1	0	1	0	1	0	0	0	0	13110	246	9	0	942	0	RBL2	16	53487517	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	129482	53487517	36867236	3547	5612											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53675004	53675004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttatctacaggtgttaaacGttgtcttggtttaggtcttg	10	6	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:53675004G>A	uc002ehp.3	-	18	2963	c.2899C>T	c.(2899-2901)Cgt>Tgt	p.R967C	RPGRIP1L_uc002eho.4_Missense_Mutation_p.R967C|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.R967C|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.R967C|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R967C	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	967					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GGTGTTAAACGTTGTCTTGGT	0.353													A	53675004	G	A	53675004	3	1	4	1	0	0	0	0	1	0	0	0	13550	1145	40	1	1084	1	RPGRIP1L	16	53675004	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	187487	53675004	36679749	3548	5613											
LPCAT2	54947	broad.mit.edu	37	chr16	55613142	55613142	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggaaatagcccaaggggActcaatttcctatggtgagt	11	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:55613142A>G	uc002eie.4	+	12	1617	c.1436A>G	c.(1435-1437)gAc>gGc	p.D479G	LPCAT2_uc002eic.3_Missense_Mutation_p.D209G	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 2 (LPCAT2), mRNA.	479					cellular membrane organization|platelet activating factor biosynthetic process	Golgi membrane|Golgi stack|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						GCCCAAGGGGACTCAATTTCC	0.473													G	55613142	A	G	55613142	3	3	4	1	0	0	0	0	1	0	0	0	8911	275	10	3	1486	3	LPCAT2	16	55613142	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1938138	55613142	34741611	3549	5614											
SLC6A2	6530	broad.mit.edu	37	chr16	55730216	55730216	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctgggctgttgtgtttttCgtcatgctcctggcgctggg	14	9	2	0	rs149035289		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:55730216C>T	uc021tio.1	+	7	1278	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	SLC6A2_uc002eif.3_Silent_p.F409F|SLC6A2_uc002eig.3_Silent_p.F409F|SLC6A2_uc002eii.3_Silent_p.F304F|SLC6A2_uc002eij.3_Silent_p.F123F	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	409					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TTGTGTTTTTCGTCATGCTCC	0.542													T	55730216	C	T	55730216	2	4	4	1	0	0	0	0	0	0	0	1	14683	883	31	1		1	SLC6A2	16	55730216	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	117074	55730216	34624537	3550	5615											
CES1	1066	broad.mit.edu	37	chr16	55855375	55855375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgttgtcctggacccagcGcagggcagccacctggtcca	12	14	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:55855375G>A	uc002eim.3	-	4	703	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C	CES1_uc002eil.3_Missense_Mutation_p.R200C|CES1_uc002ein.3_Missense_Mutation_p.R199C	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	199			R -> H (in dbSNP:rs2307243).		response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	TGGACCCAGCGCAGGGCAGCC	0.587													A	55855375	G	A	55855375	3	1	4	1	0	0	0	0	1	0	0	0	3269	1087	38	1	1148	1	CES1	16	55855375	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	125159	55855375	34499378	3551	5616											
CES1	1066	broad.mit.edu	37	chr16	55862794	55862794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggattcccaggaaaatggCcacaggctgtgcaaatcctt	11	10	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:55862794C>T	uc002eim.3	-	1	250	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	CES1_uc002eil.3_Missense_Mutation_p.A49T|CES1_uc002ein.3_Missense_Mutation_p.A48T	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	48					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	AGGAAAATGGCCACAGGCTGT	0.567													T	55862794	C	T	55862794	3	4	4	1	0	0	0	0	1	0	0	0	3269	739	26	2	1613	2	CES1	16	55862794	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	7419	55862794	34491959	3552	5617											
MT1F	4494	broad.mit.edu	37	chr16	56693075	56693075	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaagtgcagctgctgcgactGatgccaggacaacctttctc	11	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:56693075G>A	uc002ejt.3	+	2	301	c.185G>A	c.(184-186)tGa>tAa	p.*62*		NM_005949	NP_005940	P04733	MT1F_HUMAN	Homo sapiens metallothionein 1F (MT1F), mRNA.	0						cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding										TGCTGCGACTGATGCCAGGAC	0.517													A	56693075	G	A	56693075	2	1	4	1	0	0	0	0	0	0	0	1	9900	1285	45	4		4	MT1F	16	56693075	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	830281	56693075	33661678	3553	5618											
NLRC5	84166	broad.mit.edu	37	chr16	57060066	57060066	+	Missense_Mutation	SNP	C	C	T													acgtctccgaagcctgtgtgCggtgcccgcactgtgccaag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:57060066C>T	uc021tiu.1	+	4	1338	c.1211C>T	c.(1210-1212)gCg>gTg	p.A404V	NLRC5_uc021tit.1_Missense_Mutation_p.A404V|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.A209V|NLRC5_uc021tiw.1_Missense_Mutation_p.A209V|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	404	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGCCTGTGTGCGGTGCCCGCA	0.617													T	57060066	C	T	57060066	3	4	4	1	0	0	0	0	1	0	0	0	10470	768	27	1	1225	1	NLRC5	16	57060066	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	366991	57060066	33294687	3554	5619	9	2									
NLRC5	84166	broad.mit.edu	37	chr16	57060074	57060074	+	Missense_Mutation	SNP	G	G	A													gaagcctgtgtgcggtgcccGcactgtgccaagtcgcctgt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:57060074G>A	uc021tiu.1	+	4	1346	c.1219G>A	c.(1219-1221)Gca>Aca	p.A407T	NLRC5_uc021tit.1_Missense_Mutation_p.A407T|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.A212T|NLRC5_uc021tiw.1_Missense_Mutation_p.A212T|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	407	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGCGGTGCCCGCACTGTGCCA	0.597													A	57060074	G	A	57060074	3	1	4	1	0	0	0	0	1	0	0	0	10470	1087	38	1	1233	1	NLRC5	16	57060074	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	8	57060074	33294679	3555	5620	9	2									
POLR2C	5432	broad.mit.edu	37	chr16	57503154	57503154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgcaatgaagaccagacGcgacatgtcacgtctcgaga	12	11	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:57503154G>A	uc002elt.1	+	4	422	c.336G>A	c.(334-336)acG>acA	p.T112T	POLR2C_uc010vhq.2_Silent_p.T112T	NM_032940	NP_116558	P19387	RPB3_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide C, 33kDa (POLR2C), mRNA.	112					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						AAGACCAGACGCGACATGTCA	0.572													A	57503154	G	A	57503154	2	1	4	1	0	0	0	0	0	0	0	1	12216	1074	38	1		1	POLR2C	16	57503154	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	443080	57503154	32851599	3556	5621											
CCDC135	84229	broad.mit.edu	37	chr16	57735853	57735853	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccactgtgaccagccctcGcacctgtactcctcgaccac	6	20	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:57735853G>A	uc002emi.3	+	4	599	c.510G>A	c.(508-510)tcG>tcA	p.S170S	CCDC135_uc002emj.3_Silent_p.S170S|CCDC135_uc002emk.3_Intron	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	170						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ACCAGCCCTCGCACCTGTACT	0.627													A	57735853	G	A	57735853	2	1	4	1	0	0	0	0	0	0	0	1	2769	1074	38	1		1	CCDC135	16	57735853	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	232699	57735853	32618900	3557	5622											
KIFC3	3801	broad.mit.edu	37	chr16	57805529	57805529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcggcctcacagcgccGcatctcctgcctcagtcgct	9	19	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:57805529G>A	uc002emq.3	-	4	648	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	KIFC3_uc010vhw.2_Missense_Mutation_p.R49W|KIFC3_uc002emn.3_Non-coding_Transcript|KIFC3_uc002emm.3_Missense_Mutation_p.R12W|KIFC3_uc010vhx.2_Missense_Mutation_p.R12W|KIFC3_uc010cdf.3_Missense_Mutation_p.R12W|KIFC3_uc002emo.4_Missense_Mutation_p.R12W|KIFC3_uc010vhy.2_Missense_Mutation_p.R93W|KIFC3_uc002emp.3_Missense_Mutation_p.R151W|KIFC3_uc010vhz.2_Missense_Mutation_p.R173W|KIFC3_uc002emr.1_Intron|KIFC3_uc010cdg.1_Non-coding_Transcript	NM_001130100	NP_001123571	Q9BVG8	KIFC3_HUMAN	Homo sapiens kinesin family member C3 (KIFC3), transcript variant 2, mRNA.	151					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TCACAGCGCCGCATCTCCTGC	0.657													A	57805529	G	A	57805529	3	1	4	1	0	0	0	0	1	0	0	0	8314	1086	38	1	2119	1	KIFC3	16	57805529	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	69676	57805529	32549224	3558	5623											
CNGB1	1258	broad.mit.edu	37	chr16	57957240	57957240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggactctgctggtgacaacGccttgagctcttcagcctca	11	13	4	2	rs78292723	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:57957240G>A	uc002emt.2	-	17	1645	c.1580C>T	c.(1579-1581)gCg>gTg	p.A527V	CNGB1_uc010cdh.2_Missense_Mutation_p.A521V	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	527					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TGGTGACAACGCCTTGAGCTC	0.572													A	57957240	G	A	57957240	3	1	4	1	0	0	0	0	1	0	0	0	3600	1087	38	1	2239	1	CNGB1	16	57957240	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	151711	57957240	32397513	3559	5624											
ZNF319	57567	broad.mit.edu	37	chr16	58031051	58031051	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcccttctcacataggccGcatttgaagggctcctcggt	10	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:58031051G>A	uc002emx.1	-	1	1742	c.1119C>T	c.(1117-1119)tgC>tgT	p.C373C	ZNF319_uc021tjd.1_Silent_p.C373C	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	Homo sapiens zinc finger protein 319 (ZNF319), mRNA.	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CACATAGGCCGCATTTGAAGG	0.617													A	58031051	G	A	58031051	2	1	4	1	0	0	0	0	0	0	0	1	17834	1079	38	1		1	ZNF319	16	58031051	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	73811	58031051	32323702	3560	5625											
ZNF319	57567	broad.mit.edu	37	chr16	58031575	58031575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggcagctgtagggcttgtCggcctgttcagcaggggtga	19	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:58031575C>T	uc002emx.1	-	1	1218	c.595G>A	c.(595-597)Gac>Aac	p.D199N	ZNF319_uc021tjd.1_Missense_Mutation_p.D199N	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	Homo sapiens zinc finger protein 319 (ZNF319), mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						TAGGGCTTGTCGGCCTGTTCA	0.647													T	58031575	C	T	58031575	3	4	4	1	0	0	0	0	1	0	0	0	17834	884	31	1	1157	1	ZNF319	16	58031575	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	524	58031575	32323178	3561	5626											
CNOT1	23019	broad.mit.edu	37	chr16	58620473	58620473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagcgtcttaagaaaagCgtctatctgttcttgtccaa	9	10	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:58620473C>T	uc002env.3	-	6	906	c.613G>A	c.(613-615)Gct>Act	p.A205T	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.A205T|CNOT1_uc002enx.3_Missense_Mutation_p.A205T|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	205					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTAAGAAAAGCGTCTATCTGT	0.498													T	58620473	C	T	58620473	3	4	4	1	0	0	0	0	1	0	0	0	3617	768	27	1	6911	1	CNOT1	16	58620473	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	588898	58620473	31734280	3562	5627											
CNOT1	23019	broad.mit.edu	37	chr16	58622736	58622736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccactgcttttaccatcGccactgaaatccacatgcga	6	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:58622736G>A	uc002env.3	-	2	470	c.177C>T	c.(175-177)ggC>ggT	p.G59G	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Silent_p.G59G|CNOT1_uc002enx.3_Silent_p.G59G|CNOT1_uc002enz.1_5'UTR	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	59					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTTTACCATCGCCACTGAAAT	0.408													A	58622736	G	A	58622736	2	1	4	1	0	0	0	0	0	0	0	1	3617	1074	38	1		1	CNOT1	16	58622736	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2263	58622736	31732017	3563	5628											
SLC38A7	55238	broad.mit.edu	37	chr16	58712668	58712668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaggtgtagacagcgatgGccacctcacatagcacacct	9	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:58712668G>A	uc002eod.1	-	3	794	c.401C>T	c.(400-402)gCc>gTc	p.A134V	SLC38A7_uc002eoc.1_Missense_Mutation_p.A134V|SLC38A7_uc010vil.1_Missense_Mutation_p.A45V|SLC38A7_uc002eoe.1_Missense_Mutation_p.A134V	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA.	134					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						GACAGCGATGGCCACCTCACA	0.567													A	58712668	G	A	58712668	3	1	4	1	0	0	0	0	1	0	0	0	14609	1203	42	2	1023	2	SLC38A7	16	58712668	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	89932	58712668	31642085	3564	5629											
CDH5	1003	broad.mit.edu	37	chr16	66420974	66420974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgcatcggttgttcaatgCgtccgtgcctgagtcgtcgg	13	12	1	1	rs150311666		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:66420974C>T	uc002eom.4	+	2	629	c.473C>T	c.(472-474)gCg>gTg	p.A158V	CDH5_uc002eon.1_Missense_Mutation_p.A158V	NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	158	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	p.A158V(2)|p.A158A(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		TTGTTCAATGCGTCCGTGCCT	0.572													T	66420974	C	T	66420974	3	4	4	1	0	0	0	0	1	0	0	0	3113	768	27	1	479	1	CDH5	16	66420974	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	7708306	66420974	23933779	3565	5630											
CMTM2	146225	broad.mit.edu	37	chr16	66613521	66613521	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagtcagtcatggcacctaAggcggcaaagggggccaagc	15	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:66613521A>C	uc002ept.3	+	0	171	c.11A>C	c.(10-12)aAg>aCg	p.K4T	CMTM2_uc010cdu.3_Missense_Mutation_p.K4T	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 2 (CMTM2), transcript variant 1, mRNA.	4					chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		ATGGCACCTAAGGCGGCAAAG	0.597													C	66613521	A	C	66613521	3	2	4	1	0	0	0	0	1	0	0	0	3583	72	3	5	13	5	CMTM2	16	66613521	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	192547	66613521	23741232	3566	5631											
NAE1	8883	broad.mit.edu	37	chr16	66852491	66852491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctcagttcaggaaatggCttatctagtcgtagatcctc	8	10	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:66852491C>T	uc002eqf.3	-	7	638	c.561G>A	c.(559-561)aaG>aaA	p.K187K	NAE1_uc002eqe.3_Silent_p.K181K|NAE1_uc002eqg.3_Silent_p.K98K|NAE1_uc010cdv.3_Silent_p.K190K|NAE1_uc010cdw.1_Silent_p.K98K	NM_003905	NP_001018170	Q13564	ULA1_HUMAN	Homo sapiens NEDD8 activating enzyme E1 subunit 1 (NAE1), transcript variant 1, mRNA.	187					DNA replication|apoptosis|cell cycle|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	CAGGAAATGGCTTATCTAGTC	0.313													T	66852491	C	T	66852491	2	4	4	1	0	0	0	0	0	0	0	1	10139	796	28	2		2	NAE1	16	66852491	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	238970	66852491	23502262	3567	5632											
CBFB	865	broad.mit.edu	37	chr16	67116168	67116168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggctcggagaaggacacGcgaatttgaagatagagaca	14	6	0	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:67116168G>A	uc002era.3	+	4	713	c.452G>A	c.(451-453)cGc>cAc	p.R151H	CBFB_uc002erb.3_Missense_Mutation_p.R151H|CBFB_uc010vja.2_Intron	NM_001755	NP_001746	Q13951	PEBB_HUMAN	Homo sapiens core-binding factor, beta subunit (CBFB), transcript variant 2, mRNA.	151					transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		AGAAGGACACGCGAATTTGAA	0.428			T	MYH11	AML								A	67116168	G	A	67116168	3	1	4	1	0	0	0	0	1	0	0	0	2699	1087	38	1	470	1	CBFB	16	67116168	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	263677	67116168	23238585	3568	5633											
C16orf70	80262	broad.mit.edu	37	chr16	67168349	67168349	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactggacctgcaggtttaCgacttcgcctacttgctgca	10	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:67168349C>T	uc002erd.3	+	7	804	c.640C>T	c.(640-642)Cga>Tga	p.R214*	C16orf70_uc002erc.3_Nonsense_Mutation_p.R214*|C16orf70_uc002ere.1_3'UTR	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	Homo sapiens chromosome 16 open reading frame 70 (C16orf70), mRNA.	214										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TGCAGGTTTACGACTTCGCCT	0.507													T	67168349	C	T	67168349	4	4	4	1	0	0	0	0	0	1	0	0	1829	528	19	1	670	1	C16orf70	16	67168349	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	52181	67168349	23186404	3569	5634											
ELMO3	79767	broad.mit.edu	37	chr16	67234673	67234673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccagctggtcaagagCgaggtgcccctggataggct	16	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:67234673C>T	uc002esa.3	+	6	829	c.786C>T	c.(784-786)agC>agT	p.S262S	ELMO3_uc002esb.3_Silent_p.S245S|ELMO3_uc002esc.3_Silent_p.S96S	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.	209					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TGGTCAAGAGCGAGGTGCCCC	0.632													T	67234673	C	T	67234673	2	4	4	1	0	0	0	0	0	0	0	1	5067	767	27	1		1	ELMO3	16	67234673	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	66324	67234673	23120080	3570	5635											
TPPP3	51673	broad.mit.edu	37	chr16	67424250	67424250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcagccggtctacagcacCccctgtttttgctttctgtt	8	14	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:67424250C>T	uc002etb.3	-	3	503	c.358G>A	c.(358-360)Ggt>Agt	p.G120S	TPPP3_uc002esz.3_Missense_Mutation_p.G120S|TPPP3_uc002eta.3_Missense_Mutation_p.G120S	NM_015964	NP_057224	Q9BW30	TPPP3_HUMAN	Homo sapiens tubulin polymerization-promoting protein family member 3 (TPPP3), mRNA.	120					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TCTACAGCACCCCCTGTTTTT	0.617													T	67424250	C	T	67424250	3	4	4	1	0	0	0	0	1	0	0	0	16412	623	22	4	176	4	TPPP3	16	67424250	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	189577	67424250	22930503	3571	5636											
ZDHHC1	29800	broad.mit.edu	37	chr16	67432185	67432185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggcctcctgtggtgggCggtgctgcacgatgtactca	14	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:67432185C>T	uc010vjm.2	-	7	1161	c.857G>A	c.(856-858)cGc>cAc	p.R286H		NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN	Homo sapiens zinc finger, DHHC-type containing 1 (ZDHHC1), mRNA.	286						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		CTGTGGTGGGCGGTGCTGCAC	0.617													T	67432185	C	T	67432185	3	4	4	1	0	0	0	0	1	0	0	0	17597	768	27	1	616	1	ZDHHC1	16	67432185	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	7935	67432185	22922568	3572	5637											
HSD11B2	3291	broad.mit.edu	37	chr16	67470767	67470767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcctgaaggcctgcggcGccgcttcctgcaggccttct	12	17	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:67470767G>A	uc002etd.3	+	4	1195	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H		NM_000196	NP_000187	P80365	DHI2_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 2 (HSD11B2), mRNA.	360					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome				breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	GGCCTGCGGCGCCGCTTCCTG	0.667													A	67470767	G	A	67470767	3	1	4	1	0	0	0	0	1	0	0	0	7377	1087	38	1	1097	1	HSD11B2	16	67470767	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	38582	67470767	22883986	3573	5638											
RANBP10	57610	broad.mit.edu	37	chr16	67763353	67763353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtttgctcttggtggaCgcgacgccattgctacagct	11	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:67763353C>T	uc002eud.3	-	9	1298	c.1182G>A	c.(1180-1182)gcG>gcA	p.A394A	RANBP10_uc010ceo.3_Silent_p.A165A|RANBP10_uc010vju.2_Silent_p.A338A|RANBP10_uc010vjv.2_Silent_p.A277A|RANBP10_uc010vjw.1_Silent_p.A55A	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	394	Ser-rich.							p.V393I(1)|p.V393F(1)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		TCTTGGTGGACGCGACGCCAT	0.557													T	67763353	C	T	67763353	2	4	4	1	0	0	0	0	0	0	0	1	13026	523	19	1		1	RANBP10	16	67763353	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	292586	67763353	22591400	3574	5639											
CTRL	1506	broad.mit.edu	37	chr16	67964654	67964654	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacggacagaacctgcaagGgctctgcgtttgatgatcgg	14	9	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:67964654G>T	uc002euw.3	-	3	316	c.293C>A	c.(292-294)cCc>cAc	p.P98H	PSMB10_uc002eux.2_3'UTR	NM_001907	NP_001898	P40313	CTRL_HUMAN	Homo sapiens chymotrypsin-like (CTRL), mRNA.	98	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		AACCTGCAAGGGCTCTGCGTT	0.617													T	67964654	G	T	67964654	3	4	4	1	0	0	0	0	1	0	0	0	4028	1232	43	5	517	5	CTRL	16	67964654	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	201301	67964654	22390099	3575	5640											
NFATC3	4775	broad.mit.edu	37	chr16	68160498	68160498	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaagcatctactgggggAcatcctgttgtgaaggtatg	13	6	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:68160498A>G	uc002evo.2	+	2	1702	c.1386A>G	c.(1384-1386)ggA>ggG	p.G462G	NFATC3_uc010vkl.2_5'UTR|NFATC3_uc010vkm.2_5'UTR|NFATC3_uc010vkn.2_5'UTR|NFATC3_uc010vko.2_5'UTR|NFATC3_uc010vkp.2_5'UTR|NFATC3_uc010vkq.2_5'UTR|NFATC3_uc002evl.3_Intron|NFATC3_uc002evk.3_Silent_p.G462G|NFATC3_uc002evm.2_Silent_p.G462G|NFATC3_uc002evn.2_Silent_p.G462G|NFATC3_uc010vkr.2_5'UTR|NFATC3_uc010vks.2_5'UTR|NFATC3_uc010vkt.2_5'UTR|NFATC3_uc010vku.2_5'UTR|NFATC3_uc010vkv.2_5'UTR|NFATC3_uc010vkw.2_5'UTR|NFATC3_uc010vkx.2_5'UTR|NFATC3_uc010vky.2_5'UTR|NFATC3_uc010vkz.2_5'UTR|NFATC3_uc010vla.2_5'UTR|NFATC3_uc010vlb.2_5'UTR|NFATC3_uc010vlc.2_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	462	RHD.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CTACTGGGGGACATCCTGTTG	0.428													G	68160498	A	G	68160498	2	3	4	1	0	0	0	0	0	0	0	1	10364	262	10	3		3	NFATC3	16	68160498	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	195844	68160498	22194255	3576	5641											
SLC7A6OS	84138	broad.mit.edu	37	chr16	68336334	68336334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctctgggtactcattgCgccagttattctcactgttc	7	14	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:68336334C>T	uc002evw.2	-	3	788	c.749G>A	c.(748-750)cGc>cAc	p.R250H		NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN	Homo sapiens solute carrier family 7, member 6 opposite strand (SLC7A6OS), mRNA.	250					protein transport	cytoplasm|nucleus				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		GTACTCATTGCGCCAGTTATT	0.507													T	68336334	C	T	68336334	3	4	4	1	0	0	0	0	1	0	0	0	14702	768	27	1	188	1	SLC7A6OS	16	68336334	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	175836	68336334	22018419	3577	5642											
CDH3	1001	broad.mit.edu	37	chr16	68725731	68725731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctgacggtgatcagggCcactgtgtgcgactgccatg	15	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:68725731C>T	uc002ewf.2	+	12	3036	c.1904C>T	c.(1903-1905)gCc>gTc	p.A635V	CDH3_uc010vli.1_Missense_Mutation_p.A580V	NM_001793	NP_001784	P22223	CADH3_HUMAN	Homo sapiens cadherin 3, type 1, P-cadherin (placental) (CDH3), mRNA.	635	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GTGATCAGGGCCACTGTGTGC	0.567													T	68725731	C	T	68725731	3	4	4	1	0	0	0	0	1	0	0	0	3111	739	26	2	1954	2	CDH3	16	68725731	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	389397	68725731	21629022	3578	5643											
TERF2	7014	broad.mit.edu	37	chr16	69390889	69390889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggtaatttttagaaatgGcagcccagtttccttcccca	8	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:69390889G>A	uc002exd.3	-	9	1541	c.1415C>T	c.(1414-1416)gCc>gTc	p.A472V		NM_005652	NP_005643	Q15554	TERF2_HUMAN	Homo sapiens telomeric repeat binding factor 2 (TERF2), mRNA.	472	HTH myb-type.				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				TTTAGAAATGGCAGCCCAGTT	0.433													A	69390889	G	A	69390889	3	1	4	1	0	0	0	0	1	0	0	0	15759	1203	42	2	91	2	TERF2	16	69390889	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	665158	69390889	20963864	3579	5644											
WWP2	11060	broad.mit.edu	37	chr16	69874131	69874131	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacgggccaactgttgatcTgggaaatgtgcctaatggca	14	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:69874131T>G	uc002exu.1	+	5	532	c.443T>G	c.(442-444)cTg>cGg	p.L148R	WWP2_uc002ext.3_Missense_Mutation_p.L148R|WWP2_uc002exv.1_Missense_Mutation_p.L148R|WWP2_uc010vlm.1_Missense_Mutation_p.L32R	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	148					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	p.L148L(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACTGTTGATCTGGGAAATGTG	0.612													G	69874131	T	G	69874131	3	3	4	1	0	0	0	0	1	0	0	0	17413	1580	55	5	457	5	WWP2	16	69874131	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	483242	69874131	20480622	3580	5645											
WWP2	11060	broad.mit.edu	37	chr16	69942692	69942692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgagagctgcccaacggaCgtgtctattatgttgaccac	11	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:69942692C>T	uc002exu.1	+	9	1032	c.943C>T	c.(943-945)Cgt>Tgt	p.R315C	WWP2_uc002ext.3_Missense_Mutation_p.R315C|WWP2_uc002exv.1_Missense_Mutation_p.R315C|WWP2_uc010vlm.1_Missense_Mutation_p.R199C	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	315	WW 1.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCCAACGGACGTGTCTATTA	0.517													T	69942692	C	T	69942692	3	4	4	1	0	0	0	0	1	0	0	0	17413	536	19	1	973	1	WWP2	16	69942692	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	68561	69942692	20412061	3581	5646											
HYDIN	54768	broad.mit.edu	37	chr16	70867804	70867804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttaccttgcacccacatcGcctgtgttcatcatgaggat	7	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:70867804G>A	uc002ezr.3	-	78	13813	c.13662C>T	c.(13660-13662)ggC>ggT	p.G4554G	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4555										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CACCCACATCGCCTGTGTTCA	0.577													A	70867804	G	A	70867804	2	1	4	1	0	0	0	0	0	0	0	1	7467	1074	38	1		1	HYDIN	16	70867804	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	925112	70867804	19486949	3582	5647											
CHST4	10164	broad.mit.edu	37	chr16	71570901	71570901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcttgtgcgacatgagCgtctttgatgcctacatgga	11	9	3	2	rs146763647	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:71570901C>T	uc021tkt.1	+	0	321	c.321C>T	c.(319-321)agC>agT	p.S107S	CHST4_uc002fan.3_Silent_p.S107S|CHST4_uc002fao.3_Silent_p.S107S	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	107					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						GCGACATGAGCGTCTTTGATG	0.597													T	71570901	C	T	71570901	2	4	4	1	0	0	0	0	0	0	0	1	3406	767	27	1		1	CHST4	16	71570901	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	703097	71570901	18783852	3583	5648											
PHLPP2	23035	broad.mit.edu	37	chr16	71689242	71689242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcgtacactgcagcaggCgcgggagctcctcatttcgg	12	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:71689242C>T	uc002fax.3	-	15	2492	c.2486G>A	c.(2485-2487)cGc>cAc	p.R829H	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Missense_Mutation_p.R762H	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	829	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CTGCAGCAGGCGCGGGAGCTC	0.498													T	71689242	C	T	71689242	3	4	4	1	0	0	0	0	1	0	0	0	11855	768	27	1	1497	1	PHLPP2	16	71689242	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	118341	71689242	18665511	3584	5649											
DHX38	9785	broad.mit.edu	37	chr16	72130190	72130190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaaggctcctgctccccGcccttcattactcggactgg	8	17	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:72130190G>A	uc002fcb.3	+	1	489	c.134G>A	c.(133-135)cGc>cAc	p.R45H	TXNL4B_uc010cgl.2_5'Flank|TXNL4B_uc002fca.3_5'Flank|TXNL4B_uc010vmn.2_5'Flank|TXNL4B_uc010vmo.2_5'Flank|DHX38_uc010vmp.2_Missense_Mutation_p.R45H|DHX38_uc010cgn.1_5'Flank	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	45					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CCTGCTCCCCGCCCTTCATTA	0.552													A	72130190	G	A	72130190	3	1	4	1	0	0	0	0	1	0	0	0	4511	1087	38	1	136	1	DHX38	16	72130190	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	440948	72130190	18224563	3585	5650											
DHX38	9785	broad.mit.edu	37	chr16	72130838	72130838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacatggtgtctatgcctcGtccaaagaagaaaaggattg	11	7	1	2	rs148616280		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:72130838G>A	uc002fcb.3	+	2	796	c.441G>A	c.(439-441)tcG>tcA	p.S147S	TXNL4B_uc010vmo.2_5'Flank|DHX38_uc010vmp.2_Intron|DHX38_uc010cgn.1_Non-coding_Transcript	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	147					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TCTATGCCTCGTCCAAAGAAG	0.547													A	72130838	G	A	72130838	2	1	4	1	0	0	0	0	0	0	0	1	4511	1132	40	1		1	DHX38	16	72130838	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	648	72130838	18223915	3586	5651											
DHX38	9785	broad.mit.edu	37	chr16	72138392	72138392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcttctctcaggtagtggCtcggcgctcagacctgaagc	11	14	4	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:72138392C>T	uc002fcb.3	+	14	2373	c.2018C>T	c.(2017-2019)gCt>gTt	p.A673V	DHX38_uc010vmp.2_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	673	Helicase ATP-binding.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CAGGTAGTGGCTCGGCGCTCA	0.607													T	72138392	C	T	72138392	3	4	4	1	0	0	0	0	1	0	0	0	4511	797	28	2	2072	2	DHX38	16	72138392	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	7554	72138392	18216361	3587	5652											
PMFBP1	83449	broad.mit.edu	37	chr16	72162994	72162994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctttttaaattcctgccGcaaagcttcaagttctccct	4	12	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:72162994G>A	uc002fcc.4	-	12	2108	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	PMFBP1_uc002fcd.3_Missense_Mutation_p.R641W|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Missense_Mutation_p.R496W|PMFBP1_uc010cgo.1_5'Flank	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	646										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AATTCCTGCCGCAAAGCTTCA	0.527													A	72162994	G	A	72162994	3	1	4	1	0	0	0	0	1	0	0	0	12134	1086	38	1	1198	1	PMFBP1	16	72162994	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	24602	72162994	18191759	3588	5653											
ZFHX3	463	broad.mit.edu	37	chr16	72821829	72821829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggtcgtagagggagtccGcacttttgctttctgcttct	13	9	2	1	rs140437495		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:72821829G>A	uc002fck.3	-	9	11019	c.10346C>T	c.(10345-10347)gCg>gTg	p.A3449V	ZFHX3_uc002fcl.3_Missense_Mutation_p.A2535V	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3449					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAGGGAGTCCGCACTTTTGCT	0.572													A	72821829	G	A	72821829	3	1	4	1	0	0	0	0	1	0	0	0	17631	1087	38	1	769	1	ZFHX3	16	72821829	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	658835	72821829	17532924	3589	5654											
ZFHX3	463	broad.mit.edu	37	chr16	72822480	72822480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcactgtctttgtccttgCgttgctgctgctgttgcagt	10	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:72822480C>T	uc002fck.3	-	9	10368	c.9695G>A	c.(9694-9696)cGc>cAc	p.R3232H	ZFHX3_uc002fcl.3_Missense_Mutation_p.R2318H	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3232					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTGTCCTTGCGTTGCTGCTG	0.612													T	72822480	C	T	72822480	3	4	4	1	0	0	0	0	1	0	0	0	17631	768	27	1	1420	1	ZFHX3	16	72822480	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	651	72822480	17532273	3590	5655											
ZFHX3	463	broad.mit.edu	37	chr16	72991508	72991508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgccgaggcccaggtggCggttgtgttggatctgggtc	19	9	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:72991508C>T	uc002fck.3	-	1	3210	c.2537G>A	c.(2536-2538)cGc>cAc	p.R846H	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	846				RHLG -> HHRV (in Ref. 1).	muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCCCAGGTGGCGGTTGTGTTG	0.562													T	72991508	C	T	72991508	3	4	4	1	0	0	0	0	1	0	0	0	17631	768	27	1	8610	1	ZFHX3	16	72991508	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	169028	72991508	17363245	3591	5656											
LDHD	197257	broad.mit.edu	37	chr16	75149234	75149234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacagcatcaggaggttcGcacctagaaccagaccctca	8	15	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:75149234G>A	uc002fdm.3	-	2	241	c.189C>T	c.(187-189)tgC>tgT	p.C63C	LDHD_uc002fdn.3_Silent_p.C63C	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	Homo sapiens lactate dehydrogenase D (LDHD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	63	FAD-binding PCMH-type.						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						CAGGAGGTTCGCACCTAGAAC	0.627													A	75149234	G	A	75149234	2	1	4	1	0	0	0	0	0	0	0	1	8703	1079	38	1		1	LDHD	16	75149234	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2157726	75149234	15205519	3592	5657											
ADAT1	23536	broad.mit.edu	37	chr16	75654554	75654554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accggcttatcaggggtgtcGcaggccttgtcagctggaga	15	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:75654554G>A	uc002feo.2	-	2	313	c.144C>T	c.(142-144)tgC>tgT	p.C48C	ADAT1_uc002fep.2_5'UTR	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	Homo sapiens adenosine deaminase, tRNA-specific 1 (ADAT1), transcript variant 1, mRNA.	48					tRNA processing		RNA binding|metal ion binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						CAGGGGTGTCGCAGGCCTTGT	0.507													A	75654554	G	A	75654554	2	1	4	1	0	0	0	0	0	0	0	1	284	1079	38	1		1	ADAT1	16	75654554	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	505320	75654554	14700199	3593	5658											
WWOX	51741	broad.mit.edu	37	chr16	78198099	78198099	+	Frame_Shift_Del	DEL	T	T	-													gggttcgaaaccgccaagtcTtttgccctccatggtgcaca							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:78198098_78198098CT>C	uc002ffk.3	+	4	777	c.428_428CT>C	c.(427-429)tctfs	p.S143fs	WWOX_uc002ffl.3_Frame_Shift_Del_p.S143fs|WWOX_uc010che.3_Intron|WWOX_uc010vnk.2_Frame_Shift_Del_p.S30fs|WWOX_uc002ffj.2_Frame_Shift_Del_p.S143fs	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	Homo sapiens WW domain containing oxidoreductase (WWOX), transcript variant 1, mRNA.	143	Interaction with MAPT (By similarity).				Wnt receptor signaling pathway|apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	p.K142M(1)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		ACCGCCAAGTCTTTTGCCCTC	0.463													-	78198099	T	-	78198099	7	5	4	1	0	1	0	1	0	0	0	0	17411	1596	56	0	451	0	WWOX	16	78198099	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	2543545	78198099	12156654	3594	5659											
C16orf46	123775	broad.mit.edu	37	chr16	81095510	81095510	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtgggaaagcagatgtcGctaattgccctggaagcagt	14	7	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:81095510G>A	uc002fgc.4	-	3	703	c.444C>T	c.(442-444)agC>agT	p.S148S	C16orf46_uc010chf.3_Silent_p.S148S|C16orf46_uc010vno.2_5'UTR	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	148										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						AGCAGATGTCGCTAATTGCCC	0.557													A	81095510	G	A	81095510	2	1	4	1	0	0	0	0	0	0	0	1	1815	1078	38	1		1	C16orf46	16	81095510	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2897411	81095510	9259243	3595	5660											
BCMO1	53630	broad.mit.edu	37	chr16	81279097	81279097	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcaagattccagcatggCtgcagggaaccctgctccgc	12	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:81279097C>T	uc002fgn.1	+	1	300	c.82C>T	c.(82-84)Ctg>Ttg	p.L28L	BCMO1_uc002fgm.1_Silent_p.L28L|BCMO1_uc010vnp.1_Missense_Mutation_p.A2V	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	28					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	p.W27*(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TCCAGCATGGCTGCAGGGAAC	0.512													T	81279097	C	T	81279097	2	4	4	1	0	0	0	0	0	0	0	1	1384	796	28	2		2	BCMO1	16	81279097	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	183587	81279097	9075656	3596	5661											
PLCG2	5336	broad.mit.edu	37	chr16	81973507	81973507	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttccagatgataatggCctcagccctatctgggctcc	8	15	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:81973507C>T	uc002fgt.3	+	29	3502	c.3324C>T	c.(3322-3324)ggC>ggT	p.G1108G		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	1108	C2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						atgataatggcctcagcccta	0.478													T	81973507	C	T	81973507	2	4	4	1	0	0	0	0	0	0	0	1	12036	726	26	2		2	PLCG2	16	81973507	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	694410	81973507	8381246	3597	5662											
HSD17B2	3294	broad.mit.edu	37	chr16	82131906	82131906	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattacacgccagggaaaggCgcttacttgtggatctgcct	11	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:82131906C>T	uc002fgv.3	+	4	1201	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	343					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	CAGGGAAAGGCGCTTACTTGT	0.498													T	82131906	C	T	82131906	2	4	4	1	0	0	0	0	0	0	0	1	7384	755	27	1		1	HSD17B2	16	82131906	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	158399	82131906	8222847	3598	5663											
CRISPLD2	83716	broad.mit.edu	37	chr16	84922872	84922872	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacagccgtgcacgcgggaGtcatcagcaacgagagtggg	16	10	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:84922872G>T	uc010voh.1	+	13	1569	c.1342G>T	c.(1342-1344)Gtc>Ttc	p.V448F	CRISPLD2_uc010vog.1_Intron	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	Homo sapiens cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2), mRNA.	448	LCCL 2.					extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						GCACGCGGGAGTCATCAGCAA	0.567													T	84922872	G	T	84922872	3	4	4	1	0	0	0	0	1	0	0	0	3883	1029	36	5	1392	5	CRISPLD2	16	84922872	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2790966	84922872	5431881	3599	5664											
KIAA0182	23199	broad.mit.edu	37	chr16	85682290	85682291	+	Frame_Shift_Ins	INS	-	-	C													ggccacagcgtgcccagcacINScccccccgtggtgaccatcg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:85682289_85682290A>AC	uc002fix.3	+	2	432_433	c.358_359A>AC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688													C	85682291	-	C	85682290	7	5	4	1	0	1	1	0	0	0	0	0	8159	507	18	0	369	0	KIAA0182	16	85682290	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	759418	85682290	4672463	3600	5665											
FOXF1	2294	broad.mit.edu	37	chr16	86544554	86544554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actactggaccatcgacccgGccagcgagttcatgttcgag	11	13	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:86544554G>A	uc002fjl.3	+	0	422	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	FOXF1-AS1_uc021tmg.1_5'Flank|FOXF1-AS1_uc002fjk.2_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	Homo sapiens forkhead box F1 (FOXF1), mRNA.	127					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CATCGACCCGGCCAGCGAGTT	0.637													A	86544554	G	A	86544554	3	1	4	1	0	0	0	0	1	0	0	0	6005	1203	42	2	381	2	FOXF1	16	86544554	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	862264	86544554	3810199	3601	5666											
MTHFSD	64779	broad.mit.edu	37	chr16	86575334	86575334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattcccattggctttgggCgcttgcagcctgtggcgatg	14	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:86575334C>T	uc002fjn.3	-	6	701	c.650G>A	c.(649-651)cGc>cAc	p.R217H	MTHFSD_uc002fjm.3_Missense_Mutation_p.R216H|MTHFSD_uc010voo.2_Missense_Mutation_p.R197H|MTHFSD_uc010vop.2_Missense_Mutation_p.R54H|MTHFSD_uc010voq.2_Missense_Mutation_p.R216H|MTHFSD_uc010vor.2_Missense_Mutation_p.R217H|MTHFSD_uc002fjo.3_Missense_Mutation_p.R54H|MTHFSD_uc002fjp.2_Missense_Mutation_p.R197H	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	Homo sapiens methenyltetrahydrofolate synthetase domain containing (MTHFSD), transcript variant 1, mRNA.	217					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						TGGCTTTGGGCGCTTGCAGCC	0.562													T	86575334	C	T	86575334	3	4	4	1	0	0	0	0	1	0	0	0	9933	768	27	1	509	1	MTHFSD	16	86575334	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	30780	86575334	3779419	3602	5667											
FOXL1	2300	broad.mit.edu	37	chr16	86612374	86612374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctgccctggccgcctcGcccatgctgtatctgtacgg	11	17	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:86612374G>A	uc002fjr.3	+	0	260	c.45G>A	c.(43-45)tcG>tcA	p.S15S		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	Homo sapiens forkhead box L1 (FOXL1), mRNA.	15					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of Wnt receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.S15L(1)		central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						TGGCCGCCTCGCCCATGCTGT	0.721													A	86612374	G	A	86612374	2	1	4	1	0	0	0	0	0	0	0	1	6016	1074	38	1		1	FOXL1	16	86612374	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	37040	86612374	3742379	3603	5668											
ZCCHC14	23174	broad.mit.edu	37	chr16	87445771	87445771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccatgttggcaaaggaCgtggaggggtggctgctggg	21	6	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:87445771C>T	uc002fjz.1	-	11	2172	c.2145G>A	c.(2143-2145)acG>acA	p.T715T	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Silent_p.T491T	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	715	Ser-rich.				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TGGCAAAGGACGTGGAGGGGT	0.617													T	87445771	C	T	87445771	2	4	4	1	0	0	0	0	0	0	0	1	17580	523	19	1		1	ZCCHC14	16	87445771	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	833397	87445771	2908982	3604	5669											
SNAI3	333929	broad.mit.edu	37	chr16	88744868	88744868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcctctcaggggcccggGcagcagccagactcctcatg	13	16	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:88744868G>A	uc002flj.3	-	2	935	c.867C>T	c.(865-867)tgC>tgT	p.C289C	MGC23284_uc002fli.4_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	Homo sapiens snail homolog 3 (Drosophila) (SNAI3), mRNA.	289					oxidation-reduction process		DNA binding|copper ion binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		AGGGGCCCGGGCAGCAGCCAG	0.682													A	88744868	G	A	88744868	2	1	4	1	0	0	0	0	0	0	0	1	14828	1195	42	2		2	SNAI3	16	88744868	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1299097	88744868	1609885	3605	5670											
CDT1	81620	broad.mit.edu	37	chr16	88872194	88872194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggcctcctaccgcttccGccaggagcgcagtgtcccca	10	20	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:88872194G>A	uc002flu.3	+	4	803	c.749G>A	c.(748-750)cGc>cAc	p.R250H		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	Homo sapiens chromatin licensing and DNA replication factor 1 (CDT1), mRNA.	250					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		TACCGCTTCCGCCAGGAGCGC	0.632													A	88872194	G	A	88872194	3	1	4	1	0	0	0	0	1	0	0	0	3180	1087	38	1	767	1	CDT1	16	88872194	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	127326	88872194	1482559	3606	5671											
APRT	353	broad.mit.edu	37	chr16	88876190	88876190	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagctccaccaggctcacGcactccaggacctcagcctg	9	18	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:88876190G>A	uc002flv.3	-	4	494	c.459C>T	c.(457-459)tgC>tgT	p.C153C	APRT_uc002flw.3_Intron	NM_000485	NP_000476	P07741	APT_HUMAN	Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 1, mRNA.	153			C -> R (in APRTD).		purine ribonucleoside salvage	cytosol|nucleus	AMP binding|adenine phosphoribosyltransferase activity|protein binding			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CCAGGCTCACGCACTCCAGGA	0.637													A	88876190	G	A	88876190	2	1	4	1	0	0	0	0	0	0	0	1	819	1079	38	1		1	APRT	16	88876190	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3996	88876190	1478563	3607	5672											
ANKRD11	29123	broad.mit.edu	37	chr16	89348895	89348895	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttggatgaagatgaggagTgtctgtgcctctccttctct	11	9	4	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:89348895T>C	uc002fmx.1	-	8	4516	c.4055A>G	c.(4054-4056)cAc>cGc	p.H1352R	ANKRD11_uc002fmy.1_Missense_Mutation_p.H1352R|ANKRD11_uc002fnc.1_Missense_Mutation_p.H1352R|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.H1309R	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1352	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGATGAGGAGTGTCTGTGCCT	0.572													C	89348895	T	C	89348895	3	2	4	1	0	0	0	0	1	0	0	0	639	1696	59	3	3956	3	ANKRD11	16	89348895	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	472705	89348895	1005858	3608	5673											
FANCA	2175	broad.mit.edu	37	chr16	89857839	89857839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctgcatatgacaggaacGcagaggggccctccagtgct	13	11	1	2	rs144234991		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:89857839G>A	uc002fou.1	-	13	1373	c.1331C>T	c.(1330-1332)gCg>gTg	p.A444V	FANCA_uc010vpn.1_Missense_Mutation_p.A444V	NM_000135	NP_000126	O15360	FANCA_HUMAN	Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.	444					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TGACAGGAACGCAGAGGGGCC	0.592			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	89857839	G	A	89857839	3	1	4	1	0	0	0	0	1	0	0	0	5662	1087	38	1	3156	1	FANCA	16	89857839	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	508944	89857839	496914	3609	5674											
TCF25	22980	broad.mit.edu	37	chr16	89967183	89967183	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctcctgatacagcaggcGctcaccatgttccctggagg	10	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:89967183G>A	uc002fpb.2	+	11	1444	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	TCF25_uc002fpc.2_Silent_p.A219A	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	Homo sapiens transcription factor 25 (basic helix-loop-helix) (TCF25), mRNA.	454					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TACAGCAGGCGCTCACCATGT	0.622													A	89967183	G	A	89967183	2	1	4	1	0	0	0	0	0	0	0	1	15690	1074	38	1		1	TCF25	16	89967183	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	109344	89967183	387570	3610	5675											
TUBB3	10381	broad.mit.edu	37	chr16	89986038	89986038	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgtcattgacgtgatcacCtgcagctccatgctgtccag	9	12	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:89986038C>A	uc002fpf.2	+	0	780	c.372C>A	c.(370-372)acC>acA	p.T124T	TUBB3_uc002fpe.4_Silent_p.T124T|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	Homo sapiens tubulin, beta 3 class III (TUBB3), transcript variant 1, mRNA.	0					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		ACGTGATCACCTGCAGCTCCA	0.637													A	89986038	C	A	89986038	2	1	4	1	0	0	0	0	0	0	0	1	16754	668	24	5		5	TUBB3	16	89986038	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	18855	89986038	368715	3611	5676											
TUBB3	10381	broad.mit.edu	37	chr16	90001913	90001913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccaacaacgtgaaggtgGccgtgtgtgacatcccgccc	11	15	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:90001913G>A	uc002fpf.2	+	4	2503	c.2095G>A	c.(2095-2097)Gcc>Acc	p.A699T	TUBB3_uc010ciz.1_Missense_Mutation_p.A280T|TUBB3_uc002fph.2_Missense_Mutation_p.A352T|TUBB3_uc002fpj.1_Missense_Mutation_p.A280T|TUBB3_uc002fpk.1_Missense_Mutation_p.A206T	NM_006086	NP_006077	Q13509	TBB3_HUMAN	Homo sapiens tubulin, beta 3 class III (TUBB3), transcript variant 1, mRNA.	352					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CGTGAAGGTGGCCGTGTGTGA	0.602													A	90001913	G	A	90001913	3	1	4	1	0	0	0	0	1	0	0	0	16754	1203	42	2	1068	2	TUBB3	16	90001913	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	15875	90001913	352840	3612	5677											
GAS8	2622	broad.mit.edu	37	chr16	90099232	90099232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggcacagaaagagcaccGcatacaggagagtgtgctgc	14	10	0	3	rs145845004		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:90099232G>A	uc002fqi.1	+	3	517	c.395G>A	c.(394-396)cGc>cAc	p.R132H	GAS8_uc010vps.1_Missense_Mutation_p.R107H|GAS8_uc002fqh.2_Missense_Mutation_p.R49H|GAS8_uc010vpt.1_Missense_Mutation_p.R132H|GAS8_uc010vpu.1_Missense_Mutation_p.R49H|GAS8_uc010vpv.1_Missense_Mutation_p.R103H|GAS8_uc010cjc.1_Missense_Mutation_p.R49H|GAS8_uc010vpw.1_Missense_Mutation_p.R49H|GAS8_uc002fqj.1_5'UTR|C16orf3_uc002fqk.1_5'Flank	NM_001481	NP_001472	O95995	GAS8_HUMAN	Homo sapiens growth arrest-specific 8 (GAS8), transcript variant 1, mRNA.	132	Microtubule-binding.				negative regulation of cell proliferation|sperm motility	Golgi apparatus|cilium|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AAAGAGCACCGCATACAGGAG	0.557													A	90099232	G	A	90099232	3	1	4	1	0	0	0	0	1	0	0	0	6251	1087	38	1	409	1	GAS8	16	90099232	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	97319	90099232	255521	3613	5678											
VPS53	55275	broad.mit.edu	37	chr17	526892	526892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttccttcgctctggtacGcataatcttggcaagttctg	8	10	3	0	rs145041715		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:526892G>A	uc010cjo.2	-	10	1144	c.997C>T	c.(997-999)Cgt>Tgt	p.R333C	VPS53_uc002frk.3_5'UTR|VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Missense_Mutation_p.R304C|VPS53_uc002frn.2_Missense_Mutation_p.R333C|VPS53_uc002fro.2_Missense_Mutation_p.R135C|VPS53_uc010cjp.1_Intron	NM_001128159	NP_001121631	Q5VIR6	VPS53_HUMAN	Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA.	333					protein transport	Golgi apparatus|endosome membrane				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GCTCTGGTACGCATAATCTTG	0.393													A	526892	G	A	526892	3	1	4	1	0	0	0	0	1	0	0	0	17212	1087	38	1	1564	1	VPS53	17	526892	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08		526892	80668318	3614	5679											
GEMIN4	50628	broad.mit.edu	37	chr17	650203	650203	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgcggttcaggtagagCgtcgcgttctggctgaagga	17	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:650203C>T	uc002frs.1	-	1	1199	c.1080G>A	c.(1078-1080)acG>acA	p.T360T	GEMIN4_uc010vqa.1_3'UTR	NM_015721	NP_056536	P57678	GEMI4_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 4 (GEMIN4), mRNA.	360					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCAGGTAGAGCGTCGCGTTCT	0.627													T	650203	C	T	650203	2	4	4	1	0	0	0	0	0	0	0	1	6330	755	27	1		1	GEMIN4	17	650203	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	123311	650203	80545007	3615	5680											
RNMTL1	55178	broad.mit.edu	37	chr17	694821	694821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctccgggcgggtatgggcGcacatttccggatgcccatt	14	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:694821G>A	uc002frw.3	+	3	881	c.775G>A	c.(775-777)Gca>Aca	p.A259T		NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	Homo sapiens RNA methyltransferase like 1 (RNMTL1), mRNA.	259					RNA processing		RNA binding|RNA methyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		GGGTATGGGCGCACATTTCCG	0.522													A	694821	G	A	694821	3	1	4	1	0	0	0	0	1	0	0	0	13507	1087	38	1	789	1	RNMTL1	17	694821	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	44618	694821	80500389	3616	5681											
TIMM22	29928	broad.mit.edu	37	chr17	902137	902137	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgctgaaagacatgggGcagagaggaatgtcctatgc	15	6	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:902137G>A	uc002fsc.3	+	1	383	c.357G>A	c.(355-357)ggG>ggA	p.G119G		NM_013337	NP_037469	Q9Y584	TIM22_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 22 homolog (yeast) (TIMM22), nuclear gene encoding mitochondrial protein, mRNA.	119					transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AAGACATGGGGCAGAGAGGAA	0.468													A	902137	G	A	902137	2	1	4	1	0	0	0	0	0	0	0	1	15907	1190	42	2		2	TIMM22	17	902137	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	207316	902137	80293073	3617	5682											
ABR	29	broad.mit.edu	37	chr17	1028590	1028590	+	Silent	SNP	C	C	T													tggctgcgggcgctgagctgCggggacatggtgggcgactc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:1028590C>T	uc002fsd.3	-	1	284	c.174G>A	c.(172-174)ccG>ccA	p.P58P	ABR_uc002fse.3_Silent_p.P12P|ABR_uc010cjq.1_Silent_p.P70P	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	58					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CGCTGAGCTGCGGGGACATGG	0.667													T	1028590	C	T	1028590	2	4	4	1	0	0	0	0	0	0	0	1	99	755	27	1		1	ABR	17	1028590	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	126453	1028590	80166620	3618	5683	10	2									
ABR	29	broad.mit.edu	37	chr17	1028600	1028600	+	Missense_Mutation	SNP	G	G	A													cgctgagctgcggggacatgGtgggcgactcatcgatgtac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:1028600G>A	uc002fsd.3	-	1	274	c.164C>T	c.(163-165)aCc>aTc	p.T55I	ABR_uc002fse.3_Missense_Mutation_p.T9I|ABR_uc010cjq.1_Missense_Mutation_p.T67I	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	55					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CGGGGACATGGTGGGCGACTC	0.667													A	1028600	G	A	1028600	3	1	4	1	0	0	0	0	1	0	0	0	99	1261	44	4	2642	4	ABR	17	1028600	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	10	1028600	80166610	3619	5684	10	2									
WDR81	124997	broad.mit.edu	37	chr17	1634494	1634494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcatggacatcctgcccCggatcagccatgaggtcctg	10	15	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:1634494C>T	uc002ftj.2	+	3	4228	c.4099C>T	c.(4099-4101)Cgg>Tgg	p.R1367W	WDR81_uc002fth.2_Missense_Mutation_p.R316W|WDR81_uc010vqp.1_Missense_Mutation_p.R164W|WDR81_uc002fti.2_Missense_Mutation_p.R140W|WDR81_uc010vqq.1_Intron	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	140										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CATCCTGCCCCGGATCAGCCA	0.642													T	1634494	C	T	1634494	3	4	4	1	0	0	0	0	1	0	0	0	17327	643	23	1	4175	1	WDR81	17	1634494	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	605894	1634494	79560716	3620	5685											
WDR81	124997	broad.mit.edu	37	chr17	1636038	1636038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgggcagcagcggcccGtggaccccgccctgctggac	15	16	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:1636038G>A	uc002ftj.2	+	5	4531	c.4402G>A	c.(4402-4404)Gtg>Atg	p.V1468M	WDR81_uc002fth.2_Missense_Mutation_p.V417M|WDR81_uc010vqp.1_Missense_Mutation_p.V265M|WDR81_uc002fti.2_Missense_Mutation_p.V241M|WDR81_uc010vqq.1_Missense_Mutation_p.V99M	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	241										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCAGCGGCCCGTGGACCCCGC	0.632													A	1636038	G	A	1636038	3	1	4	1	0	0	0	0	1	0	0	0	17327	1145	40	1	4486	1	WDR81	17	1636038	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1544	1636038	79559172	3621	5686											
SMYD4	114826	broad.mit.edu	37	chr17	1703996	1703996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataagccgatggatgatgagGcattggaaagttgttcattc	12	5	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:1703996G>A	uc002ftm.4	-	4	860	c.692C>T	c.(691-693)gCc>gTc	p.A231V	SMYD4_uc002ftn.1_Missense_Mutation_p.A86V	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	Homo sapiens SET and MYND domain containing 4 (SMYD4), mRNA.	231							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						GGATGATGAGGCATTGGAAAG	0.502													A	1703996	G	A	1703996	3	1	4	1	0	0	0	0	1	0	0	0	14824	1203	42	2	1750	2	SMYD4	17	1703996	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	67958	1703996	79491214	3622	5687											
SMG6	23293	broad.mit.edu	37	chr17	1964860	1964860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgtgagcgccttcacacGcaggttccggtcatccgtca	10	15	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:1964860G>A	uc002fub.1	-	18	4241	c.4186C>T	c.(4186-4188)Cgt>Tgt	p.R1396C	SMG6_uc010vqv.1_Missense_Mutation_p.R488C|SMG6_uc002fud.2_Missense_Mutation_p.R1365C|SMG6_uc021tno.1_Non-coding_Transcript	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	1396	PINc.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCCTTCACACGCAGGTTCCGG	0.642													A	1964860	G	A	1964860	3	1	4	1	0	0	0	0	1	0	0	0	14797	1087	38	1	77	1	SMG6	17	1964860	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	260864	1964860	79230350	3623	5688											
SMG6	23293	broad.mit.edu	37	chr17	2202208	2202208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacatcatacctgagttgCgccatcttctccaggccctc	6	17	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:2202208C>T	uc002fub.1	-	1	1894	c.1839G>A	c.(1837-1839)gcG>gcA	p.A613A	SMG6_uc002fud.2_Silent_p.A582A	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	613					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	p.A613A(2)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACCTGAGTTGCGCCATCTTCT	0.552													T	2202208	C	T	2202208	2	4	4	1	0	0	0	0	0	0	0	1	14797	755	27	1		1	SMG6	17	2202208	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	237348	2202208	78993002	3624	5689											
RAP1GAP2	23108	broad.mit.edu	37	chr17	2898752	2898752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccatttaccgacggagacGcccagcaggtaacctggttt	11	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:2898752G>A	uc010ckd.3	+	12	1126	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	RAP1GAP2_uc010cke.3_Missense_Mutation_p.A331T	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	346	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CGACGGAGACGCCCAGCAGGT	0.607													A	2898752	G	A	2898752	3	1	4	1	0	0	0	0	1	0	0	0	13038	1087	38	1	1086	1	RAP1GAP2	17	2898752	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	696544	2898752	78296458	3625	5690											
OR1G1	8390	broad.mit.edu	37	chr17	3030350	3030350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtttgcgcagaaggacaGgctgttcatcagaagtgtgt	14	6	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:3030350G>A	uc002fvc.1	-	0	496	c.496C>T	c.(496-498)Ctg>Ttg	p.L166L		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CAGAAGGACAGGCTGTTCATC	0.522													A	3030350	G	A	3030350	2	1	4	1	0	0	0	0	0	0	0	1	10957	991	35	4		4	OR1G1	17	3030350	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	131598	3030350	78164860	3626	5691											
OR3A2	4995	broad.mit.edu	37	chr17	3181297	3181297	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccccaaaaatatttgCcacagagcaccctgaacatc	4	16	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:3181297C>T	uc002fvg.3	-	0	972	c.933G>A	c.(931-933)tgG>tgA	p.W311*		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	311					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						AAAATATTTGCCACAGAGCAC	0.463													T	3181297	C	T	3181297	4	4	4	1	0	0	0	0	0	1	0	0	11038	740	26	2	36	2	OR3A2	17	3181297	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	150947	3181297	78013913	3627	5692											
OR3A3	8392	broad.mit.edu	37	chr17	3324325	3324325	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtccagaggatgttggtggCtgcgtcctgggcttgtgcct	16	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:3324325C>A	uc010vrd.2	+	0	464	c.464C>A	c.(463-465)gCt>gAt	p.A155D		NM_012373	NP_036505	P47888	OR3A3_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 3 (OR3A3), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						ATGTTGGTGGCTGCGTCCTGG	0.587													A	3324325	C	A	3324325	3	1	4	1	0	0	0	0	1	0	0	0	11039	797	28	5	466	5	OR3A3	17	3324325	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	143028	3324325	77870885	3628	5693											
OR1E2	8388	broad.mit.edu	37	chr17	3336709	3336709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcatggggctcatgatggCggtgtagtgcaggaggaagc	19	6	1	1	rs112466079		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:3336709C>T	uc010vre.2	-	0	427	c.427G>A	c.(427-429)Gcc>Acc	p.A143T		NM_003554	NP_003545	P47887	OR1E2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 2 (OR1E2), mRNA.	143					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.A143T(2)		endometrium(3)|large_intestine(3)|lung(3)	9						CTCATGATGGCGGTGTAGTGC	0.572													T	3336709	C	T	3336709	3	4	4	1	0	0	0	0	1	0	0	0	10955	768	27	1	547	1	OR1E2	17	3336709	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	12384	3336709	77858501	3629	5694											
TRPV1	7442	broad.mit.edu	37	chr17	3476959	3476959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgttcttgctctcctgtgCgatcttgttgacagtctcac	9	11	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:3476959C>T	uc010vro.2	-	12	2137	c.2104G>A	c.(2104-2106)Gca>Aca	p.A702T	TRPV1_uc010vrp.2_Missense_Mutation_p.A631T|TRPV1_uc010vrq.2_Missense_Mutation_p.A689T|TRPV1_uc010vrr.2_Missense_Mutation_p.A691T|TRPV1_uc010vrs.2_Missense_Mutation_p.A691T|TRPV1_uc010vrt.2_Missense_Mutation_p.A691T|TRPV1_uc010vru.2_Missense_Mutation_p.A691T	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	691	AD (By similarity).				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CTCTCCTGTGCGATCTTGTTG	0.567													T	3476959	C	T	3476959	3	4	4	1	0	0	0	0	1	0	0	0	16592	768	27	1		1	TRPV1	17	3476959	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	140250	3476959	77718251	3630	5695											
TRPV1	7442	broad.mit.edu	37	chr17	3489183	3489183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccacttgtcctgcaggagtCggttcagcggctccaccaag	11	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:3489183C>T	uc010vro.2	-	7	1328	c.1295G>A	c.(1294-1296)cGa>cAa	p.R432Q	TRPV1_uc010vrp.2_Missense_Mutation_p.R361Q|TRPV1_uc010vrq.2_Missense_Mutation_p.R419Q|TRPV1_uc010vrr.2_Missense_Mutation_p.R421Q|TRPV1_uc010vrs.2_Missense_Mutation_p.R421Q|TRPV1_uc010vrt.2_Missense_Mutation_p.R421Q|TRPV1_uc010vru.2_Missense_Mutation_p.R421Q	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	421					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CTGCAGGAGTCGGTTCAGCGG	0.567													T	3489183	C	T	3489183	3	4	4	1	0	0	0	0	1	0	0	0	16592	884	31	1	966	1	TRPV1	17	3489183	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	12224	3489183	77706027	3631	5696											
ITGAE	3682	broad.mit.edu	37	chr17	3665218	3665218	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcactcaccaaaacaccGtggtggctccggacaacggt	10	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:3665218G>A	uc002fwo.4	-	3	405	c.306C>T	c.(304-306)caC>caT	p.H102H		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	102					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	p.H101Q(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CCAAAACACCGTGGTGGCTCC	0.617													A	3665218	G	A	3665218	2	1	4	1	0	0	0	0	0	0	0	1	7885	1136	40	1		1	ITGAE	17	3665218	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	176035	3665218	77529992	3632	5697											
CAMKK1	84254	broad.mit.edu	37	chr17	3773157	3773157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taacatcttcaggatcaggtCcttgagctcctcgctgattt	8	11	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:3773157C>T	uc002fwv.3	-	13	1412	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N	CAMKK1_uc002fwt.3_Missense_Mutation_p.D384N|CAMKK1_uc002fwu.3_Missense_Mutation_p.D384N	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.	384					synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		AGGATCAGGTCCTTGAGCTCC	0.587													T	3773157	C	T	3773157	3	4	4	1	0	0	0	0	1	0	0	0	2606	855	30	4	387	4	CAMKK1	17	3773157	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	107939	3773157	77422053	3633	5698											
PLD2	5338	broad.mit.edu	37	chr17	4713066	4713066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagaccaagtttgttatcGctggtccaagaggtacgggc	13	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:4713066G>A	uc002fzc.3	+	7	821	c.695G>A	c.(694-696)cGc>cAc	p.R232H	PLD2_uc010vsj.2_Missense_Mutation_p.R89H|PLD2_uc002fzd.3_Missense_Mutation_p.R232H	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	232	PH.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GTTTGTTATCGCTGGTCCAAG	0.592													A	4713066	G	A	4713066	3	1	4	1	0	0	0	0	1	0	0	0	12046	1087	38	1	721	1	PLD2	17	4713066	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	939909	4713066	76482144	3634	5699											
PLD2	5338	broad.mit.edu	37	chr17	4718853	4718853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtggctatagcaagagggCgctgatgctgctgcacccca	13	12	0	2	rs143765886	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:4718853C>T	uc002fzc.3	+	12	1382	c.1256C>T	c.(1255-1257)gCg>gTg	p.A419V	PLD2_uc010vsj.2_Missense_Mutation_p.A276V|PLD2_uc002fzd.3_Missense_Mutation_p.A419V	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	419					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AGCAAGAGGGCGCTGATGCTG	0.577											OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	4718853	C	T	4718853	3	4	4	1	0	0	0	0	1	0	0	0	12046	768	27	1	1302	1	PLD2	17	4718853	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	5787	4718853	76476357	3635	5700											
KIF1C	10749	broad.mit.edu	37	chr17	4917019	4917019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctaccacatcaaagatggCgtcaccaggtagcgtgtacc	9	13	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:4917019C>T	uc002gan.2	+	16	1920	c.1563C>T	c.(1561-1563)ggC>ggT	p.G521G		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	521					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TCAAAGATGGCGTCACCAGGT	0.597													T	4917019	C	T	4917019	2	4	4	1	0	0	0	0	0	0	0	1	8285	755	27	1		1	KIF1C	17	4917019	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	198166	4917019	76278191	3636	5701											
USP6	9098	broad.mit.edu	37	chr17	5041523	5041523	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaagcatcttagggccTctacgaagaaactaacaagg	9	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:5041523T>G	uc002gau.1	+	20	3263	c.1033T>G	c.(1033-1035)Tct>Gct	p.S345A	USP6_uc002gav.1_Missense_Mutation_p.S345A|USP6_uc010ckz.1_5'UTR|DQ584383_uc021toj.1_5'Flank|DQ574802_uc021tok.1_5'Flank|DQ573130_uc002gbd.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	345					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCTTAGGGCCTCTACGAAGAA	0.572			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								G	5041523	T	G	5041523	3	3	4	1	0	0	0	0	1	0	0	0	17083	1551	54	5	1079	5	USP6	17	5041523	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	124504	5041523	76153687	3637	5702											
RABEP1	9135	broad.mit.edu	37	chr17	5264580	5264580	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatctggagatcctttcagTaaatcggacaatgacatgtt	8	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:5264580T>C	uc002gbm.4	+	8	1397	c.1173T>C	c.(1171-1173)agT>agC	p.S391S	RABEP1_uc010clc.1_Silent_p.S384S|RABEP1_uc010cld.1_Silent_p.S348S|RABEP1_uc010vsw.1_Silent_p.S348S|RABEP1_uc002gbl.4_Silent_p.S391S|NUP88_uc002gbn.3_Non-coding_Transcript	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	391					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	GTPase activator activity|growth factor activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						ATCCTTTCAGTAAATCGGACA	0.453													C	5264580	T	C	5264580	2	2	4	1	0	0	0	0	0	0	0	1	12961	1635	57	3		3	RABEP1	17	5264580	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	223057	5264580	75930630	3638	5703											
RABEP1	9135	broad.mit.edu	37	chr17	5264866	5264866	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccagaacaagaagagacaGcgtccctcctctccagcgtt	8	15	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:5264866G>T	uc002gbm.4	+	8	1683	c.1459G>T	c.(1459-1461)Gcg>Tcg	p.A487S	RABEP1_uc010clc.1_Missense_Mutation_p.A480S|RABEP1_uc010cld.1_Missense_Mutation_p.A444S|RABEP1_uc010vsw.1_Missense_Mutation_p.A444S|RABEP1_uc002gbl.4_Missense_Mutation_p.A487S|NUP88_uc002gbn.3_Non-coding_Transcript	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	487					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	GTPase activator activity|growth factor activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGAAGAGACAGCGTCCCTCCT	0.483													T	5264866	G	T	5264866	3	4	4	1	0	0	0	0	1	0	0	0	12961	971	34	5	1493	5	RABEP1	17	5264866	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	286	5264866	75930344	3639	5704											
RABEP1	9135	broad.mit.edu	37	chr17	5280477	5280477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggacagcagcagaccacGtagaagaaaagctgaaggct	13	9	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:5280477G>A	uc002gbm.4	+	13	2316	c.2092G>A	c.(2092-2094)Gta>Ata	p.V698I	RABEP1_uc010clc.1_Missense_Mutation_p.V691I|RABEP1_uc010cld.1_Missense_Mutation_p.V655I|RABEP1_uc010vsw.1_Missense_Mutation_p.V655I|RABEP1_uc002gbl.4_Missense_Mutation_p.V698I|NUP88_uc002gbn.3_Intron	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	698					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	GTPase activator activity|growth factor activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGCAGACCACGTAGAAGAAAA	0.398													A	5280477	G	A	5280477	3	1	4	1	0	0	0	0	1	0	0	0	12961	1145	40	1	2146	1	RABEP1	17	5280477	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	15611	5280477	75914733	3640	5705											
NUP88	4927	broad.mit.edu	37	chr17	5312224	5312224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctagagatgcggtatacGcccttctggaaagagatgta	11	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:5312224G>A	uc010vsx.2	-	4	775	c.686C>T	c.(685-687)gCg>gTg	p.A229V	NUP88_uc002gbo.2_Missense_Mutation_p.A229V|NUP88_uc010cle.2_Missense_Mutation_p.A228V|NUP88_uc010vsy.2_Missense_Mutation_p.A229V	NM_002532	NP_002523	Q99567	NUP88_HUMAN	Homo sapiens nucleoporin 88kDa (NUP88), mRNA.	229					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TGCGGTATACGCCCTTCTGGA	0.358													A	5312224	G	A	5312224	3	1	4	1	0	0	0	0	1	0	0	0	10771	1087	38	1	1591	1	NUP88	17	5312224	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	31747	5312224	75882986	3641	5706											
DHX33	56919	broad.mit.edu	37	chr17	5364373	5364373	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaggtagaggacgggggcGccattgaaatactgagagaa	15	6	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:5364373G>A	uc002gca.3	-	3	936	c.735C>T	c.(733-735)ggC>ggT	p.G245G	DHX33_uc002gbz.3_Silent_p.G16G|DHX33_uc002gcb.3_Silent_p.G72G|DHX33_uc010clf.3_Intron	NM_020162	NP_001186628	Q9H6R0	DHX33_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 33 (DHX33), transcript variant 1, mRNA.	245	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGACGGGGGCGCCATTGAAAT	0.517													A	5364373	G	A	5364373	2	1	4	1	0	0	0	0	0	0	0	1	4506	1074	38	1		1	DHX33	17	5364373	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	52149	5364373	75830837	3642	5707											
DHX33	56919	broad.mit.edu	37	chr17	5365851	5365851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtgacatcatcaaagcGcactgtatagccaacctgtg	10	10	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:5365851G>A	uc002gca.3	-	2	667	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	DHX33_uc002gbz.3_5'Flank|DHX33_uc002gcb.3_5'UTR|DHX33_uc010clf.3_Intron	NM_020162	NP_001186628	Q9H6R0	DHX33_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 33 (DHX33), transcript variant 1, mRNA.	156	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCATCAAAGCGCACTGTATAG	0.473													A	5365851	G	A	5365851	3	1	4	1	0	0	0	0	1	0	0	0	4506	1087	38	1	1697	1	DHX33	17	5365851	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1478	5365851	75829359	3643	5708											
NLRP1	22861	broad.mit.edu	37	chr17	5436264	5436264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagaggcaggagaaggcacGcacaagagttccaccggtac	14	10	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:5436264G>A	uc002gci.3	-	10	3729	c.3174C>T	c.(3172-3174)tgC>tgT	p.C1058C	NLRP1_uc002gcg.1_Silent_p.C1062C|NLRP1_uc002gch.4_Silent_p.C1058C|NLRP1_uc002gck.3_Silent_p.C1058C|NLRP1_uc002gcj.3_Silent_p.C1028C|NLRP1_uc002gcl.3_Silent_p.C1028C|NLRP1_uc010clh.3_Silent_p.C1058C	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1058					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GAGAAGGCACGCACAAGAGTT	0.607													A	5436264	G	A	5436264	2	1	4	1	0	0	0	0	0	0	0	1	10471	1079	38	1		1	NLRP1	17	5436264	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	70413	5436264	75758946	3644	5709											
WSCD1	23302	broad.mit.edu	37	chr17	6023723	6023723	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctgctggtggtgcactaCgaggagctgcggcgcagcct	17	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:6023723C>T	uc010cli.3	+	8	1849	c.1470C>T	c.(1468-1470)taC>taT	p.Y490Y	WSCD1_uc002gcn.3_Silent_p.Y490Y|WSCD1_uc002gco.3_Silent_p.Y490Y|WSCD1_uc010clj.3_Silent_p.Y181Y	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	490						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TGGTGCACTACGAGGAGCTGC	0.627													T	6023723	C	T	6023723	2	4	4	1	0	0	0	0	0	0	0	1	17403	547	19	1		1	WSCD1	17	6023723	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	587459	6023723	75171487	3645	5710											
PITPNM3	83394	broad.mit.edu	37	chr17	6358942	6358942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagcgcggccaggtgtgCggcgtagccctcgctcagga	15	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:6358942C>T	uc002gdd.4	-	19	2792	c.2641G>A	c.(2641-2643)Gca>Aca	p.A881T	PITPNM3_uc010cln.3_Missense_Mutation_p.A845T|PITPNM3_uc010clm.3_Missense_Mutation_p.A364T|PITPNM3_uc002gdc.4_Missense_Mutation_p.A472T	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	881					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GCCAGGTGTGCGGCGTAGCCC	0.706													T	6358942	C	T	6358942	3	4	4	1	0	0	0	0	1	0	0	0	11952	768	27	1	287	1	PITPNM3	17	6358942	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	335219	6358942	74836268	3646	5711											
KIAA0753	9851	broad.mit.edu	37	chr17	6511780	6511780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttttcacctttagccatgCagcactgaaataaatggaaa	7	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:6511780C>T	uc002gde.4	-	9	2076	c.1717G>A	c.(1717-1719)Gca>Aca	p.A573T	KIAA0753_uc010vtd.2_Missense_Mutation_p.A29T|KIAA0753_uc010clo.3_Missense_Mutation_p.A274T|KIAA0753_uc010vte.2_Missense_Mutation_p.A274T	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	573						centrosome		p.A572D(1)		endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TTTAGCCATGCAGCACTGAAA	0.458													T	6511780	C	T	6511780	3	4	4	1	0	0	0	0	1	0	0	0	8191	710	25	2	1226	2	KIAA0753	17	6511780	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	152838	6511780	74683430	3647	5712											
TXNDC17	84817	broad.mit.edu	37	chr17	6544532	6544532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggggggaaaagctggtgcCccgactgcgtgcagggtgag	19	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:6544532C>T	uc002gdf.4	+	0	311	c.130C>T	c.(130-132)Ccc>Tcc	p.P44S	KIAA0753_uc002gde.4_5'Flank|KIAA0753_uc010vte.2_5'Flank	NM_032731	NP_116120	Q9BRA2	TXD17_HUMAN	Homo sapiens thioredoxin domain containing 17 (TXNDC17), mRNA.	44	Thioredoxin.	Contributes to redox potential value.			tumor necrosis factor-mediated signaling pathway	cytosol	electron carrier activity|peroxidase activity|protein binding|protein-disulfide reductase activity	p.C43W(1)		endometrium(1)|kidney(1)|ovary(1)	3						AAGCTGGTGCCCCGACTGCGT	0.627													T	6544532	C	T	6544532	3	4	4	1	0	0	0	0	1	0	0	0	16793	623	22	4	132	4	TXNDC17	17	6544532	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	32752	6544532	74650678	3648	5713											
BCL6B	255877	broad.mit.edu	37	chr17	6927806	6927806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaccaggtagtcccaggcGctccgaaggacacccagacc	10	17	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:6927806G>A	uc010clt.1	+	3	550	c.488G>A	c.(487-489)cGc>cAc	p.R163H	BCL6B_uc002geg.2_Missense_Mutation_p.R163H	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	163	Pro-rich.					nucleus	zinc ion binding			skin(1)	1						AGTCCCAGGCGCTCCGAAGGA	0.632													A	6927806	G	A	6927806	3	1	4	1	0	0	0	0	1	0	0	0	1377	1087	38	1	498	1	BCL6B	17	6927806	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	383274	6927806	74267404	3649	5714											
GPS2	2874	broad.mit.edu	37	chr17	7226176	7226176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccatagagatcgactaccGcatacacctctggggaggag	13	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:7226176G>A	uc002gga.1	-	15	2610	c.2603C>T	c.(2602-2604)gCg>gTg	p.A868V	GPS2_uc002ggb.1_Missense_Mutation_p.A866V|GPS2_uc002ggc.1_Missense_Mutation_p.A214V	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				ATCGACTACCGCATACACCTC	0.597													A	7226176	G	A	7226176	3	1	4	1	0	0	0	0	1	0	0	0	6733	1087	38	1		1	GPS2	17	7226176	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	298370	7226176	73969034	3650	5715											
GPS2	2874	broad.mit.edu	37	chr17	7228773	7228773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccatacaccactgggggCgtcaagggggttgccactcc	12	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:7228773C>T	uc002gga.1	-	7	1393	c.1386G>A	c.(1384-1386)acG>acA	p.T462T	GPS2_uc002ggb.1_Silent_p.T462T|GPS2_uc002ggc.1_5'UTR	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CCACTGGGGGCGTCAAGGGGG	0.582													T	7228773	C	T	7228773	2	4	4	1	0	0	0	0	0	0	0	1	6733	755	27	1		1	GPS2	17	7228773	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2597	7228773	73966437	3651	5716											
CHRNB1	1140	broad.mit.edu	37	chr17	7350413	7350413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attagcgtcgtggtgtcctcCgacggctccgtgcgttggca	14	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:7350413C>T	uc002ghb.3	+	4	446	c.405C>T	c.(403-405)tcC>tcT	p.S135S	CHRNB1_uc010vty.2_Silent_p.S63S|CHRNB1_uc010vtz.1_5'UTR	NM_000747	NP_000738	P11230	ACHB_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 1 (muscle) (CHRNB1), mRNA.	135					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				TGGTGTCCTCCGACGGCTCCG	0.597													T	7350413	C	T	7350413	2	4	4	1	0	0	0	0	0	0	0	1	3390	639	23	1		1	CHRNB1	17	7350413	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	121640	7350413	73844797	3652	5717											
POLR2A	5430	broad.mit.edu	37	chr17	7401440	7401440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacagccagtacccaggcGccaagtacatcatccgagac	10	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:7401440G>A	uc002ghf.4	+	7	1632	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T	POLR2A_uc002ghe.3_Missense_Mutation_p.A416T	NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	416					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GTACCCAGGCGCCAAGTACAT	0.532													A	7401440	G	A	7401440	3	1	4	1	0	0	0	0	1	0	0	0	12214	1087	38	1	1276	1	POLR2A	17	7401440	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	51027	7401440	73793770	3653	5718											
POLR2A	5430	broad.mit.edu	37	chr17	7406984	7406984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcccaggaaaatgccacGctgctcttcaacatccacct	7	16	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:7406984G>A	uc002ghf.4	+	18	3500	c.3114G>A	c.(3112-3114)acG>acA	p.T1038T		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	1038					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AAAATGCCACGCTGCTCTTCA	0.562													A	7406984	G	A	7406984	2	1	4	1	0	0	0	0	0	0	0	1	12214	1074	38	1		1	POLR2A	17	7406984	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5544	7406984	73788226	3654	5719											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	12	13	1	0	rs28934575		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:7577548C>G	uc002gim.2	-	6	927	c.733G>C	c.(733-735)Ggc>Cgc	p.G245R	TP53_uc002gig.1_Missense_Mutation_p.G245R|TP53_uc002gih.3_Missense_Mutation_p.G245R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G113R|TP53_uc010cnf.1_Missense_Mutation_p.G113R|TP53_uc002gii.1_Missense_Mutation_p.G113R|TP53_uc010cni.1_Missense_Mutation_p.G245R|TP53_uc010cnh.1_Missense_Mutation_p.G245R|TP53_uc002gij.2_Missense_Mutation_p.G245R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152R|TP53_uc002gio.2_Missense_Mutation_p.G113R|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(600)|p.G245C(110)|p.G245D(99)|p.G245V(58)|p.G244D(42)|p.G244C(37)|p.G244S(37)|p.G245R(20)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.G245A(8)|p.G152S(8)|p.0?(8)|p.G245fs*2(5)|p.G244fs*3(5)|p.?(5)|p.G245N(4)|p.G244_M246>V(4)|p.G152C(4)|p.G244R(4)|p.G245G(3)|p.G245H(2)|p.G245L(2)|p.G244fs*17(2)|p.G245F(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.G245fs*22(2)|p.S241_G245delSCMGG(2)|p.G245del(2)|p.G245fs*14(2)|p.G245fs*17(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245E(1)|p.G244fs*4(1)|p.G244fs*19(1)|p.C242fs*98(1)|p.G244del(1)|p.M243fs*18(1)|p.M243_G244>IC(1)|p.G244E(1)|p.G151_M153>V(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			G	7577548	C	G	7577548	3	3	4	1	0	0	0	0	1	0	0	0	16378	652	23	5	557	5	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	170564	7577548	73617662	3655	5720											
WRAP53	55135	broad.mit.edu	37	chr17	7604990	7604990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggatgagctgacggcaGcccattcgctctgcttctcc	10	16	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:7604990G>A	uc010vuh.2	+	6	993	c.838G>A	c.(838-840)Gcc>Acc	p.A280T	WRAP53_uc010vui.2_Missense_Mutation_p.A280T|WRAP53_uc002gip.3_Missense_Mutation_p.A280T|WRAP53_uc002gir.3_Missense_Mutation_p.A280T|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Missense_Mutation_p.A247T|WRAP53_uc010vuj.2_Missense_Mutation_p.A61T	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	280					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GCTGACGGCAGCCCATTCGCT	0.617													A	7604990	G	A	7604990	3	1	4	1	0	0	0	0	1	0	0	0	17397	971	34	2	860	2	WRAP53	17	7604990	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	27442	7604990	73590220	3656	5721											
DNAH2	146754	broad.mit.edu	37	chr17	7646274	7646274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgctcatttcctgccccGtattgggactggaaaggaga	13	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:7646274G>A	uc002giu.1	+	10	1732	c.1718G>A	c.(1717-1719)cGt>cAt	p.R573H	DNAH2_uc002git.3_Missense_Mutation_p.R655H|DNAH2_uc010vuk.2_Missense_Mutation_p.R573H	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	573	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTCCTGCCCCGTATTGGGACT	0.562													A	7646274	G	A	7646274	3	1	4	1	0	0	0	0	1	0	0	0	4602	1145	40	1	1760	1	DNAH2	17	7646274	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	41284	7646274	73548936	3657	5722											
DNAH2	146754	broad.mit.edu	37	chr17	7661926	7661926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactgggccttgaagggggCcagtgccttcttcatcacgg	14	12	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:7661926C>T	uc002giu.1	+	12	2179	c.2165C>T	c.(2164-2166)gCc>gTc	p.A722V		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	722	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGAAGGGGGCCAGTGCCTTC	0.542													T	7661926	C	T	7661926	3	4	4	1	0	0	0	0	1	0	0	0	4602	739	26	2	2215	2	DNAH2	17	7661926	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	15652	7661926	73533284	3658	5723											
KDM6B	23135	broad.mit.edu	37	chr17	7751760	7751760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaacaacacgaagcaggCgtggccccccaacccccgct	9	19	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:7751760C>T	uc002gix.3	+	0	897	c.60C>T	c.(58-60)ggC>ggT	p.G20G	KDM6B_uc002giw.1_Silent_p.G718G	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	718					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ACGAAGCAGGCGTGGCCCCCC	0.582													T	7751760	C	T	7751760	2	4	4	1	0	0	0	0	0	0	0	1	8138	755	27	1		1	KDM6B	17	7751760	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	89834	7751760	73443450	3659	5724											
CHD3	1107	broad.mit.edu	37	chr17	7812021	7812021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcattggtagccatggCtatgcacggtggcaggacat	12	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:7812021C>T	uc002gjd.2	+	35	5447	c.5445C>T	c.(5443-5445)ggC>ggT	p.G1815G	CHD3_uc002gje.2_Silent_p.G1756G|CHD3_uc002gjf.2_Silent_p.G1722G|CHD3_uc002gjh.2_Silent_p.G333G|CHD3_uc002gjj.2_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1756	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GTAGCCATGGCTATGCACGGT	0.438													T	7812021	C	T	7812021	2	4	4	1	0	0	0	0	0	0	0	1	3326	784	28	2		2	CHD3	17	7812021	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	60261	7812021	73383189	3660	5725											
KCNAB3	9196	broad.mit.edu	37	chr17	7826435	7826435	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagactacttcttggaatgCggcttgtttcccaggagccc	10	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:7826435C>T	uc002gjm.1	-	13	1200	c.1200G>A	c.(1198-1200)ccG>ccA	p.P400P	KCNAB3_uc010vul.1_Non-coding_Transcript	NM_004732	NP_004723	O43448	KCAB3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 3 (KCNAB3), mRNA.	400						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				TCTTGGAATGCGGCTTGTTTC	0.677													T	7826435	C	T	7826435	2	4	4	1	0	0	0	0	0	0	0	1	8011	755	27	1		1	KCNAB3	17	7826435	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	14414	7826435	73368775	3661	5726											
MYH10	4628	broad.mit.edu	37	chr17	8526285	8526285	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcttcattcaagcatgTcaattctgccatatcctcca	6	12	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:8526285T>C	uc002glm.3	-	1	376	c.280A>G	c.(280-282)Aca>Gca	p.T94A	MYH10_uc002gll.3_Missense_Mutation_p.T94A|MYH10_uc010cnx.3_Missense_Mutation_p.T94A	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	94	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCAAGCATGTCAATTCTGCC	0.383													C	8526285	T	C	8526285	3	2	4	1	0	0	0	0	1	0	0	0	10030	1667	58	3	5810	3	MYH10	17	8526285	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	699850	8526285	72668925	3662	5727											
PIK3R5	23533	broad.mit.edu	37	chr17	8789551	8789551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggcagtacccacctgacGccttgatggcacgtgtggca	12	13	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:8789551G>A	uc002glt.3	-	13	2190	c.2123C>T	c.(2122-2124)gCg>gTg	p.A708V	PIK3R5_uc010vuz.2_Missense_Mutation_p.A708V|PIK3R5_uc021tqc.1_Missense_Mutation_p.A322V|PIK3R5_uc010cob.2_Missense_Mutation_p.A322V|PIK3R5_uc010coa.2_Missense_Mutation_p.A322V|PIK3R5_uc002glu.4_Missense_Mutation_p.A322V	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	708	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CCCACCTGACGCCTTGATGGC	0.627													A	8789551	G	A	8789551	3	1	4	1	0	0	0	0	1	0	0	0	11922	1087	38	1	543	1	PIK3R5	17	8789551	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	263266	8789551	72405659	3663	5728											
PIK3R5	23533	broad.mit.edu	37	chr17	8791611	8791611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggcggcggcgctgggggCgtgaagcaggggccagaagc	23	9	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:8791611C>T	uc002glt.3	-	9	1560	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	PIK3R5_uc010vuz.2_Missense_Mutation_p.R498H|PIK3R5_uc021tqc.1_Missense_Mutation_p.R112H|PIK3R5_uc010cob.2_Missense_Mutation_p.R112H|PIK3R5_uc010coa.2_Missense_Mutation_p.R112H|PIK3R5_uc002glu.4_Missense_Mutation_p.R112H	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	498					platelet activation	cytosol|membrane|nucleus		p.R498H(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GCGCTGGGGGCGTGAAGCAGG	0.657													T	8791611	C	T	8791611	3	4	4	1	0	0	0	0	1	0	0	0	11922	768	27	1	1189	1	PIK3R5	17	8791611	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2060	8791611	72403599	3664	5729											
NTN1	9423	broad.mit.edu	37	chr17	8926018	8926018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acccgcccgccttcctcaccGacctcaacaacccgcacaac	4	23	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:8926018G>A	uc002glw.4	+	1	435	c.328G>A	c.(328-330)Gac>Aac	p.D110N		NM_004822	NP_004813	O95631	NET1_HUMAN	Homo sapiens netrin 1 (NTN1), mRNA.	110	Laminin N-terminal.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CTTCCTCACCGACCTCAACAA	0.652													A	8926018	G	A	8926018	3	1	4	1	0	0	0	0	1	0	0	0	10700	1058	37	1	330	1	NTN1	17	8926018	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	134407	8926018	72269192	3665	5730											
USP43	124739	broad.mit.edu	37	chr17	9559771	9559771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcaattcccagcacgacGccctggaattcctgctctgg	10	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:9559771G>A	uc010cod.3	+	1	556	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	USP43_uc002gma.4_5'UTR|USP43_uc010vva.2_Missense_Mutation_p.A186T|USP43_uc010coe.3_Silent_p.T17T	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	186					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.A187T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCAGCACGACGCCCTGGAATT	0.517													A	9559771	G	A	9559771	3	1	4	1	0	0	0	0	1	0	0	0	17071	1087	38	1	562	1	USP43	17	9559771	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	633753	9559771	71635439	3666	5731											
DHRS7C	201140	broad.mit.edu	37	chr17	9674988	9674988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacctctactgggtgcacGccgtaggtcagcttcctgaa	11	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:9674988G>A	uc010vvb.2	-	5	769	c.756C>T	c.(754-756)ggC>ggT	p.G252G	DHRS7C_uc010cof.3_Silent_p.G251G	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	252						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CTGGGTGCACGCCGTAGGTCA	0.627													A	9674988	G	A	9674988	2	1	4	1	0	0	0	0	0	0	0	1	4497	1074	38	1		1	DHRS7C	17	9674988	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	115217	9674988	71520222	3667	5732											
GLP2R	9340	broad.mit.edu	37	chr17	9739794	9739794	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttggtggagtgaaggTaataagtcttatttttacca	9	5	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:9739794T>C	uc002gmd.1	+	3	382	c.382_splice	c.e3+2	p.E128_splice	GLP2R_uc010cog.1_Splice_Site	NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	128					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GGAGTGAAGGTAATAAGTCTT	0.438													C	9739794	T	C	9739794	5	2	4	1	0	0	0	0	0	0	1	0	6453	1652	57	3	394	3	GLP2R	17	9739794	Splice_Site	SNP	T	TCGA-BR-4184-01A-01D-1126-08	64806	9739794	71455416	3668	5733											
GAS7	8522	broad.mit.edu	37	chr17	9828828	9828828	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctccgcgccttcttgatgTcctcctctgtcttgttgctc	7	15	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:9828828T>C	uc002gmg.1	-	10	1264	c.1103A>G	c.(1102-1104)gAc>gGc	p.D368G	GAS7_uc010vvc.1_Missense_Mutation_p.D182G|GAS7_uc002gmh.1_Missense_Mutation_p.D228G|GAS7_uc010vvd.1_Missense_Mutation_p.D320G|GAS7_uc002gmi.2_Missense_Mutation_p.D304G|GAS7_uc002gmj.1_Missense_Mutation_p.D308G|GAS7_uc010coh.1_Missense_Mutation_p.D308G	NM_201433	NP_001124303	O60861	GAS7_HUMAN	Homo sapiens growth arrest-specific 7 (GAS7), transcript variant c, mRNA.	368					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CTTCTTGATGTCCTCCTCTGT	0.612			T	MLL	AML*						OREG0024170	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	9828828	T	C	9828828	3	2	4	1	0	0	0	0	1	0	0	0	6250	1667	58	3	343	3	GAS7	17	9828828	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	89034	9828828	71366382	3669	5734											
MYH13	8735	broad.mit.edu	37	chr17	10231321	10231321	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccttcatggtggccatctcCttctcggcctctgcactctt	7	16	5	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:10231321C>A	uc002gmk.1	-	21	2643	c.2553G>T	c.(2551-2553)aaG>aaT	p.K851N		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	851					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGCCATCTCCTTCTCGGCCT	0.537											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	10231321	C	A	10231321	3	1	4	1	0	0	0	0	1	0	0	0	10032	680	24	5	3343	5	MYH13	17	10231321	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	402493	10231321	70963889	3670	5735											
MYH4	4622	broad.mit.edu	37	chr17	10353795	10353795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctccagctcctctgtgcGctggatggcgtccgtctcgt	11	16	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:10353795G>A	uc002gmn.3	-	29	4267	c.4156C>T	c.(4156-4158)Cgc>Tgc	p.R1386C	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1386					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1386C(2)|p.R1386H(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCCTCTGTGCGCTGGATGGCG	0.527													A	10353795	G	A	10353795	3	1	4	1	0	0	0	0	1	0	0	0	10037	1087	38	1	1707	1	MYH4	17	10353795	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	122474	10353795	70841415	3671	5736											
MYH4	4622	broad.mit.edu	37	chr17	10364241	10364241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggggtggtaccttccgtgCcatctggctctgcctgctct	13	13	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:10364241C>T	uc002gmn.3	-	11	1250	c.1139G>A	c.(1138-1140)gGc>gAc	p.G380D	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	380	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACCTTCCGTGCCATCTGGCTC	0.478													T	10364241	C	T	10364241	3	4	4	1	0	0	0	0	1	0	0	0	10037	739	26	2	4796	2	MYH4	17	10364241	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	10446	10364241	70830969	3672	5737											
MYH2	4620	broad.mit.edu	37	chr17	10438444	10438444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatcctttcctacagatgCggatgccttccagcacaccg	8	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:10438444C>T	uc010coi.3	-	18	2254	c.2126G>A	c.(2125-2127)cGc>cAc	p.R709H	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R709H|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	709	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R709C(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTACAGATGCGGATGCCTTC	0.433													T	10438444	C	T	10438444	3	4	4	1	0	0	0	0	1	0	0	0	10035	768	27	1	3787	1	MYH2	17	10438444	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	74203	10438444	70756766	3673	5738											
MYH2	4620	broad.mit.edu	37	chr17	10442798	10442798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttggtgacatactcattgCcgaccttgaccctggggtag	11	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:10442798C>T	uc010coi.3	-	12	1357	c.1229G>A	c.(1228-1230)gGc>gAc	p.G410D	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.G410D|MYH2_uc010coj.3_Missense_Mutation_p.G410D	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	410	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATACTCATTGCCGACCTTGAC	0.453													T	10442798	C	T	10442798	3	4	4	1	0	0	0	0	1	0	0	0	10035	739	26	2	4708	2	MYH2	17	10442798	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4354	10442798	70752412	3674	5739											
MYH3	4621	broad.mit.edu	37	chr17	10532947	10532947	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagtctcgagtcttagcgcgGagcttgttgacttgagattc	12	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:10532947G>T	uc002gmq.2	-	39	5851	c.5763C>A	c.(5761-5763)ctC>ctA	p.L1921L		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1921					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCTTAGCGCGGAGCTTGTTGA	0.557													T	10532947	G	T	10532947	2	4	4	1	0	0	0	0	0	0	0	1	10036	1161	41	5		5	MYH3	17	10532947	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	90149	10532947	70662263	3675	5740											
MYH3	4621	broad.mit.edu	37	chr17	10554850	10554850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcagcatgaactgataggCgttgtcagagatggagaaga	14	5	2	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:10554850C>T	uc002gmq.2	-	4	572	c.484G>A	c.(484-486)Gcc>Acc	p.A162T		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	162	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AACTGATAGGCGTTGTCAGAG	0.597													T	10554850	C	T	10554850	3	4	4	1	0	0	0	0	1	0	0	0	10036	768	27	1	5486	1	MYH3	17	10554850	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	21903	10554850	70640360	3676	5741											
MYOCD	93649	broad.mit.edu	37	chr17	12656117	12656117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagcagcctgaatgggggCtctgttccttctgagctgga	14	9	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:12656117C>T	uc002gno.2	+	9	1811	c.1512C>T	c.(1510-1512)ggC>ggT	p.G504G	MYOCD_uc002gnn.2_Silent_p.G504G|MYOCD_uc002gnp.1_Silent_p.G408G|MYOCD_uc002gnq.2_Silent_p.G223G	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	504	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGAATGGGGGCTCTGTTCCTT	0.577													T	12656117	C	T	12656117	2	4	4	1	0	0	0	0	0	0	0	1	10087	784	28	2		2	MYOCD	17	12656117	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2101267	12656117	68539093	3677	5742											
MYOCD	93649	broad.mit.edu	37	chr17	12666430	12666430	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggatcactcatgtcttcaAaaagtcccaaagatacccag	7	11	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:12666430A>G	uc002gno.2	+	13	2729	c.2430A>G	c.(2428-2430)caA>caG	p.Q810Q	MYOCD_uc002gnn.2_Silent_p.Q762Q|MYOCD_uc002gnq.2_Silent_p.Q486Q	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	762					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CATGTCTTCAAAAAGTCCCAA	0.483													G	12666430	A	G	12666430	2	3	4	1	0	0	0	0	0	0	0	1	10087	11	1	3		3	MYOCD	17	12666430	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	10313	12666430	68528780	3678	5743											
NCOR1	9611	broad.mit.edu	37	chr17	15961846	15961846	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtttctcctggggtggCgcaggtgagctggcaggact	17	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:15961846C>T	uc002gpo.3	-	37	6218	c.5949G>A	c.(5947-5949)gcG>gcA	p.A1983A	NCOR1_uc002gpn.3_Silent_p.A1880A|NCOR1_uc002gpl.3_5'Flank|NCOR1_uc002gpm.3_Silent_p.A503A|NCOR1_uc010vwb.2_Silent_p.A567A|NCOR1_uc010coy.3_Silent_p.A891A|NCOR1_uc010vwc.2_Silent_p.A793A	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1983	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CCTGGGGTGGCGCAGGTGAGC	0.403													T	15961846	C	T	15961846	2	4	4	1	0	0	0	0	0	0	0	1	10235	755	27	1		1	NCOR1	17	15961846	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3295416	15961846	65233364	3679	5744											
NCOR1	9611	broad.mit.edu	37	chr17	15968937	15968937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcttgtgttctccattgCgtaaagctgatactgacttg	9	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:15968937C>T	uc002gpo.3	-	32	5082	c.4813G>A	c.(4813-4815)Gca>Aca	p.A1605T	NCOR1_uc002gpn.3_Missense_Mutation_p.A1621T|NCOR1_uc002gpm.3_Missense_Mutation_p.A125T|NCOR1_uc010vwb.2_Missense_Mutation_p.A189T|NCOR1_uc010coy.3_Missense_Mutation_p.A513T|NCOR1_uc010vwc.2_Missense_Mutation_p.A415T	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1605	Interaction with C1D (By similarity).|Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTCTCCATTGCGTAAAGCTGA	0.463													T	15968937	C	T	15968937	3	4	4	1	0	0	0	0	1	0	0	0	10235	768	27	1	2565	1	NCOR1	17	15968937	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	7091	15968937	65226273	3680	5745											
NCOR1	9611	broad.mit.edu	37	chr17	15974755	15974755	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accctcaattatcggccgtgTgctctggaccacttctggag	10	13	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:15974755T>C	uc002gpo.3	-	29	4389	c.4120A>G	c.(4120-4122)Aca>Gca	p.T1374A	NCOR1_uc002gpn.3_Missense_Mutation_p.T1390A|NCOR1_uc002gpp.1_Missense_Mutation_p.T1281A|NCOR1_uc010vwb.2_Intron|NCOR1_uc010coy.3_Missense_Mutation_p.T282A|NCOR1_uc010vwc.2_Missense_Mutation_p.T185A	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1374	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATCGGCCGTGTGCTCTGGACC	0.403													C	15974755	T	C	15974755	3	2	4	1	0	0	0	0	1	0	0	0	10235	1696	59	3	3270	3	NCOR1	17	15974755	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	5818	15974755	65220455	3681	5746											
ZNF624	57547	broad.mit.edu	37	chr17	16538059	16538059	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctatagccacatccttaaaTgtcaccgattcctaaaacaa	3	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:16538059T>C	uc010cpi.2	-	3	257	c.165A>G	c.(163-165)acA>acG	p.T55T		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	Homo sapiens zinc finger protein 624 (ZNF624), mRNA.	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CATCCTTAAATGTCACCGATT	0.408													C	16538059	T	C	16538059	2	2	4	1	0	0	0	0	0	0	0	1	18045	1451	51	3		3	ZNF624	17	16538059	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	563304	16538059	64657151	3682	5747											
MPRIP	23164	broad.mit.edu	37	chr17	17062260	17062260	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccccgtccacctgtcttctGaagatgggggtgaccggctc	12	15	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:17062260G>A	uc002gqv.2	+	13	2079	c.1990G>A	c.(1990-1992)Gaa>Aaa	p.E664K	MPRIP_uc002gqu.2_Missense_Mutation_p.E664K|MPRIP_uc002gqw.2_Missense_Mutation_p.E419K	NM_015134	NP_055949	Q6WCQ1	MPRIP_HUMAN	Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA.	664	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CCTGTCTTCTGAAGATGGGGG	0.612													A	17062260	G	A	17062260	3	1	4	1	0	0	0	0	1	0	0	0	9743	1291	45	4	2044	4	MPRIP	17	17062260	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	524201	17062260	64132950	3683	5748											
TOM1L2	146691	broad.mit.edu	37	chr17	17766053	17766053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccacatacgtcttgcgCtgctcagccaaggagtttcc	10	15	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:17766053C>T	uc002grz.4	-	10	1351	c.1194G>A	c.(1192-1194)caG>caA	p.Q398Q	TOM1L2_uc002gry.4_Silent_p.Q348Q|TOM1L2_uc010vwy.2_Silent_p.Q345Q|TOM1L2_uc010cpr.3_Silent_p.Q353Q|TOM1L2_uc010vwz.2_Silent_p.Q250Q|TOM1L2_uc010vxa.2_Silent_p.Q300Q|TOM1L2_uc002grv.4_Silent_p.Q131Q	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	Homo sapiens target of myb1-like 2 (chicken) (TOM1L2), transcript variant 3, mRNA.	398					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					ACGTCTTGCGCTGCTCAGCCA	0.527													T	17766053	C	T	17766053	2	4	4	1	0	0	0	0	0	0	0	1	16350	796	28	2		2	TOM1L2	17	17766053	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	703793	17766053	63429157	3684	5749											
C17orf39	79018	broad.mit.edu	37	chr17	17957486	17957486	+	Frame_Shift_Del	DEL	A	A	-													tcgaaggagaaataatcagcAaaaaacaccctttcttaact							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:17957485_17957485CA>C	uc002gsg.1	+	2	711	c.543_543CA>C	c.(541-543)agcfs	p.S181fs		NM_024052	NP_076957	Q8IVV7	CQ039_HUMAN	Homo sapiens chromosome 17 open reading frame 39 (C17orf39), mRNA.	181										large_intestine(2)|lung(1)|ovary(2)|skin(1)	6	all_neural(463;0.228)					AAATAATCAGCAAAAAACACC	0.403													-	17957486	A	-	17957486	7	5	4	1	0	1	0	1	0	0	0	0	1855	131	5	0	554	0	C17orf39	17	17957486	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	191433	17957486	63237724	3685	5750											
MYO15A	51168	broad.mit.edu	37	chr17	18023355	18023355	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctttgtgtacccctgggTaccaccgcccatcccgtcgc	10	18	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:18023355T>C	uc021trm.1	+	0	1460	c.1241T>C	c.(1240-1242)gTa>gCa	p.V414A	MYO15A_uc021trl.1_Missense_Mutation_p.V414A	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	414	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TACCCCTGGGTACCACCGCCC	0.662													C	18023355	T	C	18023355	3	2	4	1	0	0	0	0	1	0	0	0	10063	1638	57	3	1243	3	MYO15A	17	18023355	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	65869	18023355	63171855	3686	5751											
MYO15A	51168	broad.mit.edu	37	chr17	18039937	18039937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctcatcaccagggtcaaCgcgctggtgtccccaaggca	12	14	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:18039937C>T	uc021trm.1	+	13	4935	c.4716C>T	c.(4714-4716)aaC>aaT	p.N1572N	MYO15A_uc021trl.1_Silent_p.N1570N	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1572	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCAGGGTCAACGCGCTGGTGT	0.617													T	18039937	C	T	18039937	2	4	4	1	0	0	0	0	0	0	0	1	10063	535	19	1		1	MYO15A	17	18039937	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	16582	18039937	63155273	3687	5752											
MYO15A	51168	broad.mit.edu	37	chr17	18054496	18054496	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaaacccgtgctcctgcgtGccactccaaagcccttggcc	8	19	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:18054496G>T	uc021trm.1	+	37	7765	c.7546G>T	c.(7546-7548)Gcc>Tcc	p.A2516S	MYO15A_uc021trl.1_Missense_Mutation_p.A2514S|MYO15A_uc010vxi.2_5'Flank|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2516	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTCCTGCGTGCCACTCCAAA	0.652													T	18054496	G	T	18054496	3	4	4	1	0	0	0	0	1	0	0	0	10063	1319	46	5	7692	5	MYO15A	17	18054496	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	14559	18054496	63140714	3688	5753											
TOP3A	7156	broad.mit.edu	37	chr17	18205934	18205934	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcacatccacagcatcGctcaccctctgatcaggctc	6	18	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:18205934G>A	uc002gsx.1	-	5	832	c.603C>T	c.(601-603)agC>agT	p.S201S	TOP3A_uc010vxr.1_5'Flank|TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Silent_p.S99S|TOP3A_uc010cqa.1_Non-coding_Transcript	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	201					DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CCACAGCATCGCTCACCCTCT	0.547													A	18205934	G	A	18205934	2	1	4	1	0	0	0	0	0	0	0	1	16364	1078	38	1		1	TOP3A	17	18205934	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	151438	18205934	62989276	3689	5754											
FBXW10	10517	broad.mit.edu	37	chr17	18668087	18668087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaaagtggggtttgcacacGaatcttcggtggtcaccagg	14	8	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:18668087G>A	uc002gul.3	+	6	1785	c.1553G>A	c.(1552-1554)cGa>cAa	p.R518Q	FBXW10_uc002guj.3_Missense_Mutation_p.R489Q|FBXW10_uc002guk.3_Missense_Mutation_p.R489Q|FBXW10_uc010cqh.2_Missense_Mutation_p.R489Q	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	489										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GTTTGCACACGAATCTTCGGT	0.493													A	18668087	G	A	18668087	3	1	4	1	0	0	0	0	1	0	0	0	5763	1058	37	1	1496	1	FBXW10	17	18668087	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	462153	18668087	62527123	3690	5755											
PRPSAP2	5636	broad.mit.edu	37	chr17	18770597	18770597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctttctcttctctaggcGgctaggggtggagatgggca	14	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:18770597G>A	uc002gup.2	+	3	444	c.122G>A	c.(121-123)cGg>cAg	p.R41Q	PRPSAP2_uc002guo.2_Intron|PRPSAP2_uc010vyi.2_Intron|PRPSAP2_uc010vyj.2_Intron|PRPSAP2_uc010vyk.2_Missense_Mutation_p.R41Q	NM_002767	NP_002758	O60256	KPRB_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 2 (PRPSAP2), transcript variant 1, mRNA.	41					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity	p.R41W(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TTCTCTAGGCGGCTAGGGGTG	0.418													A	18770597	G	A	18770597	3	1	4	1	0	0	0	0	1	0	0	0	12582	1116	39	1	128	1	PRPSAP2	17	18770597	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	102510	18770597	62424613	3691	5756											
PRPSAP2	5636	broad.mit.edu	37	chr17	18781095	18781095	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagcatcattggcgtgatAccctactttccttacagcaa	7	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:18781095A>G	uc002gup.2	+	5	646	c.324A>G	c.(322-324)atA>atG	p.I108M	PRPSAP2_uc002guo.2_Missense_Mutation_p.I22M|PRPSAP2_uc010vyi.2_Missense_Mutation_p.I68M|PRPSAP2_uc010vyj.2_Missense_Mutation_p.I22M|PRPSAP2_uc010vyk.2_Missense_Mutation_p.I108M	NM_002767	NP_002758	O60256	KPRB_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 2 (PRPSAP2), transcript variant 1, mRNA.	108					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity	p.V107V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TTGGCGTGATACCCTACTTTC	0.463													G	18781095	A	G	18781095	3	3	4	1	0	0	0	0	1	0	0	0	12582	381	14	3	338	3	PRPSAP2	17	18781095	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	10498	18781095	62414115	3692	5757											
MAPK7	5598	broad.mit.edu	37	chr17	19283208	19283208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaaacacgacaacatcatcGccatcaaggacatcctgagg	7	12	2	1	rs147142467	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:19283208G>A	uc002gvn.3	+	2	732	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	B9D1_uc010cqm.1_5'Flank|MAPK7_uc002gvo.3_Intron|MAPK7_uc002gvq.3_Missense_Mutation_p.A116T|MAPK7_uc002gvp.3_Missense_Mutation_p.A116T	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	116	Protein kinase.|Required for binding to MAP2K5 (By similarity).				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CAACATCATCGCCATCAAGGA	0.512													A	19283208	G	A	19283208	3	1	4	1	0	0	0	0	1	0	0	0	9282	1087	38	1	352	1	MAPK7	17	19283208	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	502113	19283208	61912002	3693	5758											
MAPK7	5598	broad.mit.edu	37	chr17	19284190	19284190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatgactgagtatgtggCcacgcgctggtaccgtgcgc	13	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:19284190C>T	uc002gvn.3	+	3	1054	c.668C>T	c.(667-669)gCc>gTc	p.A223V	B9D1_uc010cqm.1_5'Flank|MAPK7_uc002gvo.3_Missense_Mutation_p.A84V|MAPK7_uc002gvq.3_Missense_Mutation_p.A223V|MAPK7_uc002gvp.3_Missense_Mutation_p.A223V	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	223	Necessary for oligomerization (By similarity).|Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GAGTATGTGGCCACGCGCTGG	0.537													T	19284190	C	T	19284190	3	4	4	1	0	0	0	0	1	0	0	0	9282	739	26	2	678	2	MAPK7	17	19284190	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	982	19284190	61911020	3694	5759											
MAPK7	5598	broad.mit.edu	37	chr17	19286236	19286236	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccagtctttcgacatgggCgtggctgatgggccacagga	14	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:19286236C>T	uc002gvn.3	+	5	2660	c.2274C>T	c.(2272-2274)ggC>ggT	p.G758G	MAPK7_uc002gvo.3_Silent_p.G619G|MAPK7_uc002gvq.3_Silent_p.G758G|MAPK7_uc002gvp.3_Silent_p.G758G|DM110819_uc010vyt.1_5'Flank	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	758	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TCGACATGGGCGTGGCTGATG	0.592													T	19286236	C	T	19286236	2	4	4	1	0	0	0	0	0	0	0	1	9282	755	27	1		1	MAPK7	17	19286236	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2046	19286236	61908974	3695	5760											
SLC47A2	146802	broad.mit.edu	37	chr17	19584902	19584902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggatgcccagtggtaggcCgatgatgtaatatgtgatgg	15	5	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:19584902C>T	uc002gwe.4	-	13	1529	c.1354G>A	c.(1354-1356)Ggc>Agc	p.G452S	SLC47A2_uc002gwg.4_Missense_Mutation_p.G416S|SLC47A2_uc002gwf.4_Missense_Mutation_p.G430S|SLC47A2_uc002gwh.4_Non-coding_Transcript|SLC47A2_uc002gwi.3_Non-coding_Transcript|SLC47A2_uc010cqs.1_Non-coding_Transcript	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	Homo sapiens solute carrier family 47, member 2 (SLC47A2), transcript variant 1, mRNA.	452						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					AGTGGTAGGCCGATGATGTAA	0.532													T	19584902	C	T	19584902	3	4	4	1	0	0	0	0	1	0	0	0	14648	652	23	1	470	1	SLC47A2	17	19584902	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	298666	19584902	61610308	3696	5761											
USP22	23326	broad.mit.edu	37	chr17	20922459	20922459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcagcagttcaagctccCgtttggttggttcccaagtt	10	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:20922459C>T	uc002gym.4	-	3	662	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	USP22_uc002gyn.4_Missense_Mutation_p.R141Q|USP22_uc002gyl.4_Missense_Mutation_p.R48Q	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	Homo sapiens ubiquitin specific peptidase 22 (USP22), mRNA.	153					cell cycle|embryo development|histone H4 acetylation|histone deubiquitination|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						TTCAAGCTCCCGTTTGGTTGG	0.478													T	20922459	C	T	20922459	3	4	4	1	0	0	0	0	1	0	0	0	17051	652	23	1	1159	1	USP22	17	20922459	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1337557	20922459	60272751	3697	5762											
TMEM11	8834	broad.mit.edu	37	chr17	21101798	21101798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcgcgacagtttataggCgtcgtactccacttggtact	11	11	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:21101798C>T	uc002gyp.2	-	1	861	c.418G>A	c.(418-420)Gcc>Acc	p.A140T	TMEM11_uc002gyq.2_3'UTR	NM_003876	NP_003867	P17152	TMM11_HUMAN	Homo sapiens transmembrane protein 11 (TMEM11), transcript variant 1, mRNA.	140					mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						AGTTTATAGGCGTCGTACTCC	0.597													T	21101798	C	T	21101798	3	4	4	1	0	0	0	0	1	0	0	0	16023	768	27	1	164	1	TMEM11	17	21101798	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	179339	21101798	60093412	3698	5763											
KSR1	8844	broad.mit.edu	37	chr17	25910117	25910117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggaaccgcattgatgaCgtctcctcgatgaggtgagt	14	9	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:25910117C>T	uc010crg.3	+	4	1000	c.555C>T	c.(553-555)gaC>gaT	p.D185D	KSR1_uc002gzj.1_Non-coding_Transcript	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	320					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCATTGATGACGTCTCCTCGA	0.542													T	25910117	C	T	25910117	2	4	4	1	0	0	0	0	0	0	0	1	8581	535	19	1		1	KSR1	17	25910117	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4808319	25910117	55285093	3699	5764											
KSR1	8844	broad.mit.edu	37	chr17	25934953	25934953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgacagcttctgcaaggggCggacgttgcactcgtttgtg	14	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:25934953C>T	uc010crg.3	+	15	2105	c.1660C>T	c.(1660-1662)Cgg>Tgg	p.R554W	KSR1_uc002gzm.3_Missense_Mutation_p.R334W|KSR1_uc002gzn.3_5'Flank	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	690					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTGCAAGGGGCGGACGTTGCA	0.617													T	25934953	C	T	25934953	3	4	4	1	0	0	0	0	1	0	0	0	8581	759	27	1	1713	1	KSR1	17	25934953	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	24836	25934953	55260257	3700	5765											
NLK	51701	broad.mit.edu	37	chr17	26449740	26449740	+	Frame_Shift_Del	DEL	T	T	-													cgggaattgaagatgttgtgTttttttaagcatgataatgt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:26449739_26449739GT>G	uc010crj.3	+	1	781	c.569_569GT>G	c.(568-570)tgtfs	p.C190fs		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	190	Protein kinase.				Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AAGATGTTGTGTTTTTTTAAG	0.388													-	26449740	T	-	26449740	7	5	4	1	0	1	0	1	0	0	0	0	10466	1731	60	0	576	0	NLK	17	26449740	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	514787	26449740	54745470	3701	5766											
ERAL1	26284	broad.mit.edu	37	chr17	27187476	27187476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattggtccgaagggccacGtgatctcccagatagcacag	12	11	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:27187476G>A	uc002hcy.1	+	9	1229	c.1219G>A	c.(1219-1221)Gtg>Atg	p.V407M	ERAL1_uc002hcz.1_Non-coding_Transcript|ERAL1_uc002hda.1_Missense_Mutation_p.V214M|MIR451B_uc021ttw.1_5'Flank	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Homo sapiens Era G-protein-like 1 (E. coli) (ERAL1), mRNA.	407	KH type-2.				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|rRNA binding|ribosomal small subunit binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			GAAGGGCCACGTGATCTCCCA	0.547													A	27187476	G	A	27187476	3	1	4	1	0	0	0	0	1	0	0	0	5202	1145	40	1	1257	1	ERAL1	17	27187476	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	737736	27187476	54007734	3702	5767											
CPD	1362	broad.mit.edu	37	chr17	28754503	28754503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcagatcacagatcctacGcaaccagaaactattgctgt	7	11	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:28754503G>A	uc002hfb.2	+	6	2001	c.1944G>A	c.(1942-1944)acG>acA	p.T648T	CPD_uc010wbo.2_Silent_p.T401T|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	648	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CAGATCCTACGCAACCAGAAA	0.398													A	28754503	G	A	28754503	2	1	4	1	0	0	0	0	0	0	0	1	3798	1074	38	1		1	CPD	17	28754503	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1567027	28754503	52440707	3703	5768											
LRRC37B	114659	broad.mit.edu	37	chr17	30362634	30362634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacacttaagaacattctcaCgatgactgttgaactggaaa	7	8	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:30362634C>T	uc002hgu.3	+	6	2110	c.2099C>T	c.(2098-2100)aCg>aTg	p.T700M	LRRC37B_uc010wbx.2_Missense_Mutation_p.T618M|LRRC37B_uc010csu.3_Missense_Mutation_p.T649M	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	700						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AACATTCTCACGATGACTGTT	0.308													T	30362634	C	T	30362634	3	4	4	1	0	0	0	0	1	0	0	0	8994	536	19	1	2125	1	LRRC37B	17	30362634	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1608131	30362634	50832576	3704	5769											
MYO1D	4642	broad.mit.edu	37	chr17	31087608	31087608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaataatatcattgatgCgagtaacgatccaacaaaaa	5	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:31087608C>T	uc002hho.1	-	8	1085	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	MYO1D_uc002hhp.1_Missense_Mutation_p.R358H|MYO1D_uc010wcb.2_Missense_Mutation_p.R358H	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	358	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ATCATTGATGCGAGTAACGAT	0.383													T	31087608	C	T	31087608	3	4	4	1	0	0	0	0	1	0	0	0	10071	768	27	1	2003	1	MYO1D	17	31087608	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	724974	31087608	50107602	3705	5770											
MYO1D	4642	broad.mit.edu	37	chr17	31087632	31087632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacgatccaacaaaaaaggCgctcatatattgcctgcaag	7	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:31087632C>T	uc002hho.1	-	8	1061	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H	MYO1D_uc002hhp.1_Missense_Mutation_p.R350H|MYO1D_uc010wcb.2_Missense_Mutation_p.R350H	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	350	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACAAAAAAGGCGCTCATATAT	0.383													T	31087632	C	T	31087632	3	4	4	1	0	0	0	0	1	0	0	0	10071	768	27	1	2027	1	MYO1D	17	31087632	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	24	31087632	50107578	3706	5771											
CCT6B	10693	broad.mit.edu	37	chr17	33255998	33255998	+	Frame_Shift_Del	DEL	T	T	-													taccaagagtgaagaagttgTttttttacacaataattatc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:33255997_33255997GT>G	uc002hig.3	-	12	1623	c.1507_1507AC>C	c.(1507-1509)caafs	p.Q503fs	CCT6B_uc010ctg.3_Frame_Shift_Del_p.Q466fs|CCT6B_uc010wcc.2_Frame_Shift_Del_p.Q458fs	NM_006584	NP_006575	Q92526	TCPW_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6B (zeta 2) (CCT6B), transcript variant 1, mRNA.	503					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TGAAGAAGTTGTTTTTTTACA	0.294													-	33255998	T	-	33255998	7	5	4	1	0	1	0	1	0	0	0	0	2958	1722	60	0	94	0	CCT6B	17	33255998	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	2168366	33255998	47939212	3707	5772											
CCT6B	10693	broad.mit.edu	37	chr17	33259515	33259515	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagctccaggaaccatAcaacctattggagagaaaaa	8	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:33259515A>G	uc002hig.3	-	10	1334	c.1218T>C	c.(1216-1218)tgT>tgC	p.C406C	CCT6B_uc010ctg.3_Silent_p.C369C|CCT6B_uc010wcc.2_Silent_p.C361C	NM_006584	NP_006575	Q92526	TCPW_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6B (zeta 2) (CCT6B), transcript variant 1, mRNA.	406					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				CAGGAACCATACAACCTATTG	0.388													G	33259515	A	G	33259515	2	3	4	1	0	0	0	0	0	0	0	1	2958	389	14	3		3	CCT6B	17	33259515	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	3517	33259515	47935695	3708	5773											
CCT6B	10693	broad.mit.edu	37	chr17	33266272	33266272	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgacttgtgtgagagtatgCttatttggtcctttaaccaa	9	6	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:33266272C>A	uc002hig.3	-	9	1259	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	CCT6B_uc010ctg.3_Missense_Mutation_p.K344N|CCT6B_uc010wcc.2_Missense_Mutation_p.K336N	NM_006584	NP_006575	Q92526	TCPW_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6B (zeta 2) (CCT6B), transcript variant 1, mRNA.	381					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TGAGAGTATGCTTATTTGGTC	0.388													A	33266272	C	A	33266272	3	1	4	1	0	0	0	0	1	0	0	0	2958	796	28	5	469	5	CCT6B	17	33266272	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	6757	33266272	47928938	3709	5774											
LIG3	3980	broad.mit.edu	37	chr17	33326437	33326437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccacgcttgcccgcctgcAgaatgaactagacatggtga	11	12	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:33326437A>G	uc002hik.2	+	14	2354	c.2225A>G	c.(2224-2226)cAg>cGg	p.Q742R	LIG3_uc002hij.3_Missense_Mutation_p.Q742R	NM_013975	NP_039269	P49916	DNLI3_HUMAN	Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	742					DNA ligation involved in DNA repair|DNA replication|base-excision repair|cell division|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GCCCGCCTGCAGAATGAACTA	0.572								Other BER factors					G	33326437	A	G	33326437	3	3	4	1	0	0	0	0	1	0	0	0	8782	188	7	3	2279	3	LIG3	17	33326437	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	60165	33326437	47868773	3710	5775											
SLFN5	162394	broad.mit.edu	37	chr17	33586592	33586592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccgtggatatgtctgtGcaatcaaggtggagaaattc	11	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:33586592G>A	uc002hjf.4	+	1	1000	c.883G>A	c.(883-885)Gca>Aca	p.A295T	SLFN5_uc002hje.3_Missense_Mutation_p.A295T|SLFN5_uc010wcg.2_Missense_Mutation_p.A295T	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	Homo sapiens schlafen family member 5 (SLFN5), mRNA.	295					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ATATGTCTGTGCAATCAAGGT	0.488													A	33586592	G	A	33586592	3	1	4	1	0	0	0	0	1	0	0	0	14737	1319	46	2	885	2	SLFN5	17	33586592	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	260155	33586592	47608618	3711	5776											
SLFN5	162394	broad.mit.edu	37	chr17	33591298	33591298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaataaatacagaaatgcGccctttctctcaaggaatat	5	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:33591298G>A	uc002hjf.4	+	3	1352	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	SLFN5_uc010wcg.2_Intron	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	Homo sapiens schlafen family member 5 (SLFN5), mRNA.	412					cell differentiation		ATP binding	p.R412H(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ACAGAAATGCGCCCTTTCTCT	0.403													A	33591298	G	A	33591298	3	1	4	1	0	0	0	0	1	0	0	0	14737	1087	38	1	1245	1	SLFN5	17	33591298	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4706	33591298	47603912	3712	5777											
RASL10B	91608	broad.mit.edu	37	chr17	34068171	34068171	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacgcaagacctggaagtgCggctacgtggaatgctcggc	15	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:34068171C>T	uc002hju.3	+	3	825	c.459C>T	c.(457-459)tgC>tgT	p.C153C		NM_033315	NP_201572	Q96S79	RSLAB_HUMAN	Homo sapiens RAS-like, family 10, member B (RASL10B), mRNA.	153	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTGGAAGTGCGGCTACGTGG	0.632													T	34068171	C	T	34068171	2	4	4	1	0	0	0	0	0	0	0	1	13080	776	27	1		1	RASL10B	17	34068171	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	476873	34068171	47127039	3713	5778											
MMP28	79148	broad.mit.edu	37	chr17	34097268	34097268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcggctcagggaccagCgctcatcttggtcgaagtgc	16	12	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:34097268C>T	uc002hjy.1	-	5	924	c.665G>A	c.(664-666)cGc>cAc	p.R222H	MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA.	223					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAGGGACCAGCGCTCATCTTG	0.746													T	34097268	C	T	34097268	3	4	4	1	0	0	0	0	1	0	0	0	9665	768	27	1	910	1	MMP28	17	34097268	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	29097	34097268	47097942	3714	5779											
MMP28	79148	broad.mit.edu	37	chr17	34106032	34106032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatctggcgcagggtggcgCggtccaacacgccgctgaca	14	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:34106032C>T	uc002hjy.1	-	2	498	c.239G>A	c.(238-240)cGc>cAc	p.R80H	MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript|MMP28_uc002hka.3_Missense_Mutation_p.R80H	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA.	80					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.D79V(1)		endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAGGGTGGCGCGGTCCAACAC	0.607													T	34106032	C	T	34106032	3	4	4	1	0	0	0	0	1	0	0	0	9665	768	27	1	1360	1	MMP28	17	34106032	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	8764	34106032	47089178	3715	5780											
TBC1D3B	414059	broad.mit.edu	37	chr17	34499219	34499219	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcccgtaggcttacttggtTccgtatcgatccctgaagaa	9	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:34499219T>C	uc002hky.2	-	6	642	c.492A>G	c.(490-492)ggA>ggG	p.G164G	DQ571391_uc002hla.1_5'Flank|DQ593188_uc021tvb.1_5'Flank|DQ586142_uc002hlc.3_5'Flank|DQ575686_uc021tvc.1_5'Flank|DQ580080_uc021tvd.1_5'Flank	NM_001001417	NP_001001417	A6NDS4	TBC3B_HUMAN	Homo sapiens TBC1 domain family, member 3B (TBC1D3B), mRNA.	164	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.G164*(1)		endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTACTTGGTTCCGTATCGAT	0.577													C	34499219	T	C	34499219	2	2	4	1	0	0	0	0	0	0	0	1	15617	1770	62	3		3	TBC1D3B	17	34499219	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	393187	34499219	46695991	3716	5781											
ACACA	31	broad.mit.edu	37	chr17	35603887	35603887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttattgccaattgtgatgCgatatctaggagacaagtgg	11	5	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:35603887C>T	uc002hnm.3	-	18	2395	c.2204G>A	c.(2203-2205)cGc>cAc	p.R735H	ACACA_uc002hnk.3_Missense_Mutation_p.R657H|ACACA_uc002hnl.3_Missense_Mutation_p.R677H|ACACA_uc002hnn.3_Missense_Mutation_p.R735H|ACACA_uc002hno.3_Missense_Mutation_p.R772H|ACACA_uc010cuz.3_Missense_Mutation_p.R735H	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	735					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AATTGTGATGCGATATCTAGG	0.408													T	35603887	C	T	35603887	3	4	4	1	0	0	0	0	1	0	0	0	106	768	27	1	4988	1	ACACA	17	35603887	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1104668	35603887	45591323	3717	5782											
HNF1B	6928	broad.mit.edu	37	chr17	36099531	36099531	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagatgctgggagaggtgCgactggttcaggccggtgac	18	7	1	3	rs147218489		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:36099531C>T	uc002hok.4	-	1	665	c.444G>A	c.(442-444)tcG>tcA	p.S148S	HNF1B_uc010wdi.2_Silent_p.S148S|HNF1B_uc021tvv.1_Silent_p.S148S|HNF1B_uc021tvw.1_Silent_p.S148S	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	148			S -> L (in RCAD).|S -> W (in RCAD).		endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GGGAGAGGTGCGACTGGTTCA	0.567													T	36099531	C	T	36099531	2	4	4	1	0	0	0	0	0	0	0	1	7252	755	27	1		1	HNF1B	17	36099531	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	495644	36099531	45095679	3718	5783											
MED1	5469	broad.mit.edu	37	chr17	37565282	37565282	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcccttaggaatctgaatAgtgattttgggaatgggtgg	14	4	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:37565282A>G	uc002hrv.4	-	16	3404	c.3192T>C	c.(3190-3192)acT>acC	p.T1064T	MED1_uc010wee.2_Silent_p.T892T|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	1064	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GAATCTGAATAGTGATTTTGG	0.522										HNSCC(31;0.082)			G	37565282	A	G	37565282	2	3	4	1	0	0	0	0	0	0	0	1	9425	407	15	3		3	MED1	17	37565282	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1465751	37565282	43629928	3719	5784											
CDK12	51755	broad.mit.edu	37	chr17	37682159	37682159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaatcaaagtgaattggCagtgttattaaacctgctgc	10	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:37682159C>T	uc010cvv.3	+	12	3936	c.3350C>T	c.(3349-3351)gCa>gTa	p.A1117V	CDK12_uc010wef.1_Missense_Mutation_p.A1116V|CDK12_uc002hrw.4_Missense_Mutation_p.A1117V	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	1117					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGTGAATTGGCAGTGTTATTA	0.498			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			T	37682159	C	T	37682159	3	4	4	1	0	0	0	0	1	0	0	0	3128	710	25	2	3400	2	CDK12	17	37682159	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	116877	37682159	43513051	3720	5785											
IKZF3	22806	broad.mit.edu	37	chr17	37948990	37948990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggataatccacacacatcGcagttcatctttccactggt	6	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:37948990G>A	uc002hsu.3	-	3	422	c.360C>T	c.(358-360)tgC>tgT	p.C120C	IKZF3_uc002htd.3_Silent_p.C86C|IKZF3_uc010cwd.3_Intron|IKZF3_uc002hsv.3_Silent_p.C86C|IKZF3_uc010cwe.3_Silent_p.C120C|IKZF3_uc010cwf.3_Intron|IKZF3_uc010cwg.3_Intron|IKZF3_uc002hsw.3_Silent_p.C120C|IKZF3_uc002hsx.3_Silent_p.C120C|IKZF3_uc002hsy.3_Silent_p.C120C|IKZF3_uc002hsz.3_Silent_p.C120C|IKZF3_uc002hta.3_Silent_p.C120C|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Intron|IKZF3_uc002htc.3_5'UTR	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	120					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CACACACATCGCAGTTCATCT	0.378													A	37948990	G	A	37948990	2	1	4	1	0	0	0	0	0	0	0	1	7616	1079	38	1		1	IKZF3	17	37948990	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	266831	37948990	43246220	3721	5786											
ZPBP2	124626	broad.mit.edu	37	chr17	38024850	38024850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagaagggcttcatttatgGcaagacaggacagccaggta	12	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:38024850G>A	uc002hte.3	+	1	254	c.101G>A	c.(100-102)gGc>gAc	p.G34D	ZPBP2_uc002htf.3_Intron	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Homo sapiens zona pellucida binding protein 2 (ZPBP2), transcript variant 2, mRNA.	34					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTCATTTATGGCAAGACAGGA	0.517													A	38024850	G	A	38024850	3	1	4	1	0	0	0	0	1	0	0	0	18217	1203	42	2	107	2	ZPBP2	17	38024850	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	75860	38024850	43170360	3722	5787											
CASC3	22794	broad.mit.edu	37	chr17	38319959	38319959	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctggtgggcagcatggtggCcggtctggtgagactgttaa	18	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:38319959C>A	uc010cwt.1	+	6	1306	c.1011C>A	c.(1009-1011)ggC>ggA	p.G337G	CASC3_uc010cws.1_Silent_p.G337G|CASC3_uc002hue.3_Silent_p.G337G	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	337					RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AGCATGGTGGCCGGTCTGGTG	0.562													A	38319959	C	A	38319959	2	1	4	1	0	0	0	0	0	0	0	1	2661	726	26	5		5	CASC3	17	38319959	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	295109	38319959	42875251	3723	5788											
CDC6	990	broad.mit.edu	37	chr17	38450699	38450699	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaagccacagctgttgaacTtcccaccttataccagaaat	6	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:38450699T>C	uc002huj.1	+	6	1237	c.1027T>C	c.(1027-1029)Ttc>Ctc	p.F343L		NM_001254	NP_001245	Q99741	CDC6_HUMAN	Homo sapiens cell division cycle 6 homolog (S. cerevisiae) (CDC6), mRNA.	343					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|mitosis|negative regulation of DNA replication|negative regulation of cell proliferation|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						GCTGTTGAACTTCCCACCTTA	0.403													C	38450699	T	C	38450699	3	2	4	1	0	0	0	0	1	0	0	0	3083	1609	56	3	1049	3	CDC6	17	38450699	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	130740	38450699	42744511	3724	5789											
TOP2A	7153	broad.mit.edu	37	chr17	38557134	38557134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttctccatccatcaaacGcctgatgttatttacaattt	3	11	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:38557134G>A	uc002huq.3	-	20	2791	c.2632C>T	c.(2632-2634)Cgt>Tgt	p.R878C	RARA_uc021txb.1_Intron	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	878					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TCCATCAAACGCCTGATGTTA	0.408													A	38557134	G	A	38557134	3	1	4	1	0	0	0	0	1	0	0	0	16362	1087	38	1	2023	1	TOP2A	17	38557134	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	106435	38557134	42638076	3725	5790											
KRT222	125113	broad.mit.edu	37	chr17	38818220	38818220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtgccactggcgtcggGcctccttgagttctgcttga	15	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:38818220G>A	uc002hvc.2	-	1	238	c.173C>T	c.(172-174)gCc>gTc	p.A58V	KRT222_uc002hvb.2_Missense_Mutation_p.A18V|KRT222_uc010cxc.3_Missense_Mutation_p.A18V	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	58						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						CTGGCGTCGGGCCTCCTTGAG	0.473													A	38818220	G	A	38818220	3	1	4	1	0	0	0	0	1	0	0	0	8459	1203	42	2	734	2	KRT222	17	38818220	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	261086	38818220	42376990	3726	5791											
KRT27	342574	broad.mit.edu	37	chr17	38936056	38936056	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtgaggtctaccccgggggCcgcgttcatctccacgttca	12	15	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:38936056C>A	uc002hvg.3	-	3	783	c.742G>T	c.(742-744)Gcc>Tcc	p.A248S		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	Homo sapiens keratin 27 (KRT27), mRNA.	248	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				ACCCCGGGGGCCGCGTTCATC	0.527													A	38936056	C	A	38936056	3	1	4	1	0	0	0	0	1	0	0	0	8464	739	26	5	657	5	KRT27	17	38936056	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	117836	38936056	42259154	3727	5792											
KRT39	390792	broad.mit.edu	37	chr17	39114941	39114941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttaatctccttggtgatgGtgcaaattttaaccagtatc	7	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:39114941G>A	uc002hvo.1	-	6	1424	c.1388C>T	c.(1387-1389)aCc>aTc	p.T463I	KRT39_uc010wfm.1_Missense_Mutation_p.T196I	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	463	Tail.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CTTGGTGATGGTGCAAATTTT	0.517													A	39114941	G	A	39114941	3	1	4	1	0	0	0	0	1	0	0	0	8476	1261	44	4	91	4	KRT39	17	39114941	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	178885	39114941	42080269	3728	5793											
KRTAP1-3	81850	broad.mit.edu	37	chr17	39191019	39191019	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagctggagccgcatgTcccactggtggagcagctgg	16	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:39191019T>C	uc002hvv.3	-	0	89	c.55A>G	c.(55-57)Aca>Gca	p.T19A		NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	Homo sapiens keratin associated protein 1-3 (KRTAP1-3), mRNA.	19						extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GAGCCGCATGTCCCACTGGTG	0.582													C	39191019	T	C	39191019	3	2	4	1	0	0	0	0	1	0	0	0	8503	1667	58	3	452	3	KRTAP1-3	17	39191019	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	76078	39191019	42004191	3729	5794											
KRT33A	3883	broad.mit.edu	37	chr17	39502732	39502732	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctccagcaggctccggtaCgtgttgatctcacactccag	9	15	2	1	rs57495682	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:39502732C>T	uc002hwk.1	-	5	1102	c.1065G>A	c.(1063-1065)acG>acA	p.T355T		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	355	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GGCTCCGGTACGTGTTGATCT	0.577													T	39502732	C	T	39502732	2	4	4	1	0	0	0	0	0	0	0	1	8469	523	19	1		1	KRT33A	17	39502732	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	311713	39502732	41692478	3730	5795											
KRT36	8689	broad.mit.edu	37	chr17	39645870	39645870	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggagccctcgcagaaccAgcccccgctccccacaaagc	9	19	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:39645870A>G	uc002hwt.3	-	0	247	c.247T>C	c.(247-249)Tgg>Cgg	p.W83R		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	83	Head.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TCGCAGAACCAGCCCCCGCTC	0.622													G	39645870	A	G	39645870	3	3	4	1	0	0	0	0	1	0	0	0	8473	188	7	3	1184	3	KRT36	17	39645870	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	143138	39645870	41549340	3731	5796											
KRT13	3860	broad.mit.edu	37	chr17	39658842	39658842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgtgttctccagccccGctttctggtggagcgacaga	11	15	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:39658842G>A	uc002hwu.1	-	5	1091	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V	KRT13_uc002hwv.1_Missense_Mutation_p.A343V|KRT13_uc010wfr.2_Missense_Mutation_p.A236V|KRT13_uc010cxo.3_Missense_Mutation_p.A343V|KRT13_uc021txk.1_Missense_Mutation_p.A236V	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	343	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CTCCAGCCCCGCTTTCTGGTG	0.627													A	39658842	G	A	39658842	3	1	4	1	0	0	0	0	1	0	0	0	8450	1087	38	1	360	1	KRT13	17	39658842	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	12972	39658842	41536368	3732	5797											
KRT13	3860	broad.mit.edu	37	chr17	39661466	39661466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggtaggaagccaggcggtCgttgaggttctgcatggtga	17	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:39661466C>T	uc002hwu.1	-	0	400	c.337G>A	c.(337-339)Gac>Aac	p.D113N	KRT13_uc002hwv.1_Missense_Mutation_p.D113N|KRT13_uc010wfr.2_Missense_Mutation_p.D6N|KRT13_uc010cxo.3_Missense_Mutation_p.D113N|KRT13_uc021txk.1_Missense_Mutation_p.D6N	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	113	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCCAGGCGGTCGTTGAGGTTC	0.592													T	39661466	C	T	39661466	3	4	4	1	0	0	0	0	1	0	0	0	8450	884	31	1	1071	1	KRT13	17	39661466	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2624	39661466	41533744	3733	5798											
DNAJC7	7266	broad.mit.edu	37	chr17	40134398	40134398	+	Frame_Shift_Del	DEL	T	T	-													tcttcagttccagctgcgcaTtttttaggagctgtttgtgt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:40134398delT	uc002hyo.2	-	11	1343	c.1106delA	c.(1105-1107)AATfs	p.N369fs	DNAJC7_uc010cxu.2_Frame_Shift_Del_p.N313fs|DNAJC7_uc010cxv.2_Intron|DNAJC7_uc010wgb.1_Frame_Shift_Del_p.N313fs|DNAJC7_uc010wgc.1_Frame_Shift_Del_p.N227fs|DNAJC7_uc002hyp.2_Frame_Shift_Del_p.N313fs	NM_003315	NP_003306	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	369					chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			ovary(1)	1		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				CAGCTGCGCATTTTTTAGGAG	0.468													-	40134398	T	-	40134398	7	5	4	1	0	1	0	1	0	0	0	0	4654	1493	52	0	394	0	DNAJC7	17	40134398	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	472932	40134398	41060812	3734	5799											
RAB5C	5878	broad.mit.edu	37	chr17	40280741	40280741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggccaggctgtgataccGctcctgtccagctgtgtccc	14	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:40280741G>A	uc010cxx.3	-	3	700	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	RAB5C_uc002hyz.3_Missense_Mutation_p.R82W|RAB5C_uc002hza.3_Missense_Mutation_p.R82W	NM_001252039	NP_001238968	P51148	RAB5C_HUMAN	Homo sapiens RAB5C, member RAS oncogene family (RAB5C), transcript variant 3, mRNA.	82					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CTGTGATACCGCTCCTGTCCA	0.547													A	40280741	G	A	40280741	3	1	4	1	0	0	0	0	1	0	0	0	12950	1086	38	1	422	1	RAB5C	17	40280741	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	146343	40280741	40914469	3735	5800											
GHDC	84514	broad.mit.edu	37	chr17	40344954	40344954	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctccccaaggtcctggttTgaggtcgggggcagtggctg	17	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:40344954T>C	uc002hzd.3	-	2	841	c.357A>G	c.(355-357)tcA>tcG	p.S119S	GHDC_uc002hzg.2_Silent_p.S119S|GHDC_uc010wgg.2_Intron|GHDC_uc002hze.4_Silent_p.S119S|GHDC_uc002hzf.4_Silent_p.S119S|GHDC_uc010cxz.2_Non-coding_Transcript	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA.	119						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GGTCCTGGTTTGAGGTCGGGG	0.607													C	40344954	T	C	40344954	2	2	4	1	0	0	0	0	0	0	0	1	6369	1799	63	3		3	GHDC	17	40344954	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	64213	40344954	40850256	3736	5801											
STAT5B	6777	broad.mit.edu	37	chr17	40370236	40370237	+	Frame_Shift_Ins	INS	-	-	G													atgatggtggccttcacctgINSgggggggttcatgtgcacgt					rs144993426		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:40370235_40370236T>TG	uc002hzh.3	-	8	1271_1272	c.1102_1103A>CA	c.(1102-1104)cagfs	p.Q368fs	STAT5B_uc002hzi.3_Frame_Shift_Ins_p.Q368fs	NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	368					2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GGCCTTCACCTGGGGGGGGTTC	0.574													G	40370237	-	G	40370236	7	5	4	1	0	1	1	0	0	0	0	0	15268	1357	47	0	1305	0	STAT5B	17	40370236	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	25282	40370236	40824974	3737	5802											
STAT3	6774	broad.mit.edu	37	chr17	40476753	40476753	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtttctctgccagtgtagTcagctgctcgatgctcagtc	11	11	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:40476753T>C	uc002hzl.1	-	16	1816	c.1576A>G	c.(1576-1578)Act>Gct	p.T526A	STAT3_uc002hzk.1_Missense_Mutation_p.T526A|STAT3_uc002hzm.1_Missense_Mutation_p.T526A|STAT3_uc010wgh.1_Missense_Mutation_p.T428A|STAT3_uc002hzn.1_Missense_Mutation_p.T526A	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	526					JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GCCAGTGTAGTCAGCTGCTCG	0.587									Hyperimmunoglobulin E Recurrent Infection Syndrome				C	40476753	T	C	40476753	3	2	4	1	0	0	0	0	1	0	0	0	15265	1667	58	3	768	3	STAT3	17	40476753	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	106517	40476753	40718457	3738	5803											
STAT3	6774	broad.mit.edu	37	chr17	40489528	40489528	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgccgcctcttccagtcaGccagctcctcgtccgtgaga	10	16	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:40489528G>T	uc002hzl.1	-	7	962	c.722C>A	c.(721-723)gCt>gAt	p.A241D	STAT3_uc002hzk.1_Missense_Mutation_p.A241D|STAT3_uc002hzm.1_Missense_Mutation_p.A241D|STAT3_uc010wgh.1_Missense_Mutation_p.A143D|STAT3_uc002hzn.1_Missense_Mutation_p.A241D	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	241					JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTTCCAGTCAGCCAGCTCCTC	0.527									Hyperimmunoglobulin E Recurrent Infection Syndrome				T	40489528	G	T	40489528	3	4	4	1	0	0	0	0	1	0	0	0	15265	971	34	5	1658	5	STAT3	17	40489528	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	12775	40489528	40705682	3739	5804											
CNTNAP1	8506	broad.mit.edu	37	chr17	40845456	40845456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccactgtgcccaccctcGgctcccctgtttccatggag	10	17	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:40845456G>A	uc002iay.3	+	17	3110	c.2894G>A	c.(2893-2895)cGg>cAg	p.R965Q	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	965	EGF-like 2.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCCCACCCTCGGCTCCCCTGT	0.607													A	40845456	G	A	40845456	3	1	4	1	0	0	0	0	1	0	0	0	3646	1116	39	1	2964	1	CNTNAP1	17	40845456	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	355928	40845456	40349754	3740	5805											
WNK4	65266	broad.mit.edu	37	chr17	40947525	40947525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggggaagccaggctggCgcccatctctgaaggtaagg	15	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:40947525C>T	uc002ibj.3	+	14	3076	c.3008C>T	c.(3007-3009)gCg>gTg	p.A1003V	WNK4_uc010wgx.2_Missense_Mutation_p.A667V|CCDC56_uc010wgz.1_3'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	1003					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCCAGGCTGGCGCCCATCTCT	0.587													T	40947525	C	T	40947525	3	4	4	1	0	0	0	0	1	0	0	0	17377	768	27	1	3066	1	WNK4	17	40947525	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	102069	40947525	40247685	3741	5806											
CNTD1	124817	broad.mit.edu	37	chr17	40958800	40958800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgagagcctgttgagggCttcaattgagaactccactc	10	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:40958800C>T	uc002ibm.4	+	4	921	c.689C>T	c.(688-690)gCt>gTt	p.A230V	CNTD1_uc010wha.2_Missense_Mutation_p.A147V	NM_173478	NP_775749	Q8N815	CNTD1_HUMAN	Homo sapiens cyclin N-terminal domain containing 1 (CNTD1), mRNA.	230										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTGTTGAGGGCTTCAATTGAG	0.527													T	40958800	C	T	40958800	3	4	4	1	0	0	0	0	1	0	0	0	3635	797	28	2	707	2	CNTD1	17	40958800	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	11275	40958800	40236410	3742	5807											
MPP3	4356	broad.mit.edu	37	chr17	41891392	41891392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttacgtggaacagcgacGccaaagtgctgtgggttctc	12	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:41891392G>A	uc002ieh.3	-	13	1578	c.1317C>T	c.(1315-1317)ggC>ggT	p.G439G	MPP3_uc002iei.4_Silent_p.G414G|MPP3_uc002iej.3_Non-coding_Transcript	NM_001932	NP_001923	Q13368	MPP3_HUMAN	Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.	414	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GAACAGCGACGCCAAAGTGCT	0.547													A	41891392	G	A	41891392	2	1	4	1	0	0	0	0	0	0	0	1	9735	1074	38	1		1	MPP3	17	41891392	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	932592	41891392	39303818	3743	5808											
C17orf53	78995	broad.mit.edu	37	chr17	42232005	42232005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactcggagcacaatggacGccagtgtggttttcaaggac	13	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:42232005G>A	uc002ifi.2	+	5	1771	c.1534G>A	c.(1534-1536)Gcc>Acc	p.A512T	C17orf53_uc010czq.2_Missense_Mutation_p.A511T|C17orf53_uc002ifj.2_Missense_Mutation_p.A436T|C17orf53_uc002ifk.1_Non-coding_Transcript	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA.	512										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CACAATGGACGCCAGTGTGGT	0.552													A	42232005	G	A	42232005	3	1	4	1	0	0	0	0	1	0	0	0	1862	1087	38	1	1556	1	C17orf53	17	42232005	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	340613	42232005	38963205	3744	5809											
SLC4A1	6521	broad.mit.edu	37	chr17	42335832	42335832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagggctggactgatagcGccttcgaagtagctccctct	13	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:42335832G>A	uc002igf.4	-	9	1185	c.1036C>T	c.(1036-1038)Cgc>Tgc	p.R346C	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	346					bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GACTGATAGCGCCTTCGAAGT	0.642													A	42335832	G	A	42335832	3	1	4	1	0	0	0	0	1	0	0	0	14650	1087	38	1	1743	1	SLC4A1	17	42335832	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	103827	42335832	38859378	3745	5810											
GPATCH8	23131	broad.mit.edu	37	chr17	42476588	42476588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggccccgggatcttgagcGctctctggtatgactccgag	14	13	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:42476588G>A	uc002igw.2	-	7	3076	c.2857C>T	c.(2857-2859)Cgc>Tgc	p.R953C	GPATCH8_uc002igv.2_Missense_Mutation_p.R875C|GPATCH8_uc010wiz.2_Missense_Mutation_p.R875C	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	953	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GATCTTGAGCGCTCTCTGGTA	0.567													A	42476588	G	A	42476588	3	1	4	1	0	0	0	0	1	0	0	0	6594	1087	38	1	1655	1	GPATCH8	17	42476588	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	140756	42476588	38718622	3746	5811											
GPATCH8	23131	broad.mit.edu	37	chr17	42476724	42476724	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcatctgagtcatgggaGcgcttggagtgccttcgtga	15	8	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:42476724G>A	uc002igw.2	-	7	2940	c.2721C>T	c.(2719-2721)cgC>cgT	p.R907R	GPATCH8_uc002igv.2_Silent_p.R829R|GPATCH8_uc010wiz.2_Silent_p.R829R	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	907	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AGTCATGGGAGCGCTTGGAGT	0.488													A	42476724	G	A	42476724	2	1	4	1	0	0	0	0	0	0	0	1	6594	958	34	2		2	GPATCH8	17	42476724	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	136	42476724	38718486	3747	5812											
GPATCH8	23131	broad.mit.edu	37	chr17	42580708	42580708	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtttacctgaaagtctcggtCttcgttgaagcgggagaagc	13	8	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:42580708C>T	uc002igw.2	-	0	250	c.31G>A	c.(31-33)Gac>Aac	p.D11N	GPATCH8_uc010wiz.2_5'UTR	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	11						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AAGTCTCGGTCTTCGTTGAAG	0.627													T	42580708	C	T	42580708	3	4	4	1	0	0	0	0	1	0	0	0	6594	913	32	4	4509	4	GPATCH8	17	42580708	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	103984	42580708	38614502	3748	5813											
EFTUD2	9343	broad.mit.edu	37	chr17	42956967	42956967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccactccatctgagatgCgcaagccagctgtgacctca	10	14	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:42956967C>T	uc002ihn.2	-	8	920	c.659G>A	c.(658-660)cGc>cAc	p.R220H	EFTUD2_uc010wje.1_Missense_Mutation_p.R185H|EFTUD2_uc010wjf.1_Missense_Mutation_p.R210H	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	220						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				ATCTGAGATGCGCAAGCCAGC	0.478													T	42956967	C	T	42956967	3	4	4	1	0	0	0	0	1	0	0	0	4961	768	27	1	2339	1	EFTUD2	17	42956967	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	376259	42956967	38238243	3749	5814											
PLCD3	113026	broad.mit.edu	37	chr17	43195797	43195797	+	Frame_Shift_Del	DEL	C	C	-													gtgggtgttgtccaaggcagCcccctccggcgacaacaggt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:43195797delC	uc002iib.2	-	6	1090	c.976delG	c.(976-978)GCTfs	p.A326fs		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	326					intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	TCCAAGGCAGCCCCCTCCGGC	0.572													-	43195797	C	-	43195797	7	5	4	1	0	1	0	1	0	0	0	0	12032	739	26	0	1432	0	PLCD3	17	43195797	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	238830	43195797	37999413	3750	5815											
FMNL1	752	broad.mit.edu	37	chr17	43315992	43315992	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccggaatgaggacagcaAcatcgacttcatggtgagct	11	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:43315992A>G	uc002iin.3	+	9	1156	c.956A>G	c.(955-957)aAc>aGc	p.N319S	FMNL1_uc002iiq.3_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	319	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GAGGACAGCAACATCGACTTC	0.597													G	43315992	A	G	43315992	3	3	4	1	0	0	0	0	1	0	0	0	5951	43	2	3	994	3	FMNL1	17	43315992	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	120195	43315992	37879218	3751	5816											
MAP3K14	9020	broad.mit.edu	37	chr17	43351908	43351908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggacaattctgggtgagGtcaatcctgcacatgccatc	11	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:43351908G>A	uc002iiw.1	-	7	1449	c.1340C>T	c.(1339-1341)aCc>aTc	p.T447I	MAP3K14_uc002iiu.1_5'Flank|MAP3K14_uc010daj.1_Non-coding_Transcript|MAP3K14_uc002iiv.1_Missense_Mutation_p.T32I	NM_003954	NP_003945	Q99558	M3K14_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA.	448	Interaction with ZFP91.|Protein kinase.				I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCTGGGTGAGGTCAATCCTGC	0.562													A	43351908	G	A	43351908	3	1	4	1	0	0	0	0	1	0	0	0	9248	1261	44	4	1540	4	MAP3K14	17	43351908	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	35916	43351908	37843302	3752	5817											
ARHGAP27	201176	broad.mit.edu	37	chr17	43480123	43480124	+	Frame_Shift_Del	DEL	GA	GA	-													atttgtctttgggggcccagGagagagtggcccccctcagc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:43480122_43480123GGA>G	uc002iix.3	-	8	1126_1127	c.677_678TCC>C	c.(676-678)tccfs	p.S226fs	ARHGAP27_uc010dak.3_Frame_Shift_Del_p.S199fs|ARHGAP27_uc010wjl.1_Frame_Shift_Del_p.S345fs	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Homo sapiens Rho GTPase activating protein 27 (ARHGAP27), transcript variant 1, mRNA.	567					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	p.S226fs*9(2)		endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					TGGGGGCCCAGGAGAGAGTGGC	0.599													-	43480124	GA	-	43480123	7	5	4	1	0	1	0	1	0	0	0	0	876	1174	41	0	1005	0	ARHGAP27	17	43480123	Frame_Shift_Del	DEL	GA	TCGA-BR-4184-01A-01D-1126-08	128215	43480123	37715087	3753	5818											
WNT3	7473	broad.mit.edu	37	chr17	44845861	44845861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggtgacattgcaagtcCggtcccttgtgccaaaggaa	14	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:44845861C>T	uc002ikv.2	-	3	1012	c.893G>A	c.(892-894)cGg>cAg	p.R298Q		NM_030753	NP_110380	P56703	WNT3_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA.	298					Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity	p.R298W(1)		endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			ATTGCAAGTCCGGTCCCTTGT	0.592													T	44845861	C	T	44845861	3	4	4	1	0	0	0	0	1	0	0	0	17385	652	23	1	178	1	WNT3	17	44845861	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1365738	44845861	36349349	3754	5819											
WNT3	7473	broad.mit.edu	37	chr17	44846086	44846086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcacggaagtcaggctgcGcccaccagcaggtcttcacc	12	15	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:44846086G>A	uc002ikv.2	-	3	787	c.668C>T	c.(667-669)gCg>gTg	p.A223V		NM_030753	NP_110380	P56703	WNT3_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA.	223					Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GTCAGGCTGCGCCCACCAGCA	0.602													A	44846086	G	A	44846086	3	1	4	1	0	0	0	0	1	0	0	0	17385	1087	38	1	403	1	WNT3	17	44846086	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	225	44846086	36349124	3755	5820											
WNT3	7473	broad.mit.edu	37	chr17	44851186	44851186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatgtaattgcggcagaagCgcagttgcttggggaccagg	16	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:44851186C>T	uc002ikv.2	-	1	289	c.170G>A	c.(169-171)cGc>cAc	p.R57H		NM_030753	NP_110380	P56703	WNT3_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA.	57					Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCGGCAGAAGCGCAGTTGCTT	0.662													T	44851186	C	T	44851186	3	4	4	1	0	0	0	0	1	0	0	0	17385	768	27	1	909	1	WNT3	17	44851186	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	5100	44851186	36344024	3756	5821											
ITGB3	3690	broad.mit.edu	37	chr17	45368350	45368350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaagtagagctggaagtgCgtgacctccctgaagagttg	13	8	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:45368350C>T	uc002ilj.3	+	8	1176	c.1156C>T	c.(1156-1158)Cgt>Tgt	p.R386C	ITGB3_uc002ili.1_Missense_Mutation_p.R386C|ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	386					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GCTGGAAGTGCGTGACCTCCC	0.473													T	45368350	C	T	45368350	3	4	4	1	0	0	0	0	1	0	0	0	7895	768	27	1	1190	1	ITGB3	17	45368350	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	517164	45368350	35826860	3757	5822											
C17orf57	124989	broad.mit.edu	37	chr17	45473297	45473297	+	Frame_Shift_Del	DEL	A	A	-													tctagtttgaatagtaatttAaaaaaggatgaatttctagc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:45473296_45473296TA>T	uc002iln.3	+	16	2329	c.1898_1898TA>T	c.(1897-1899)ttafs	p.L633fs	C17orf57_uc002ilm.3_Frame_Shift_Del_p.L537fs	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	633	EF-hand 3.						calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						AATAGTAATTTAAAAAAGGAT	0.338													-	45473297	A	-	45473297	7	5	4	1	0	1	0	1	0	0	0	0	1865	359	13	0	1953	0	C17orf57	17	45473297	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	104947	45473297	35721913	3758	5823											
SCRN2	90507	broad.mit.edu	37	chr17	45915225	45915225	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcttacgcataagcctgGctctccctcttcacgaaggc	9	14	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:45915225G>A	uc002imd.3	-	7	1389	c.1263C>T	c.(1261-1263)agC>agT	p.S421S	SCRN2_uc002imf.3_3'UTR	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	Homo sapiens secernin 2 (SCRN2), transcript variant 1, mRNA.	421					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CATAAGCCTGGCTCTCCCTCT	0.657													A	45915225	G	A	45915225	2	1	4	1	0	0	0	0	0	0	0	1	13939	1194	42	2		2	SCRN2	17	45915225	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	441928	45915225	35279985	3759	5824											
SCRN2	90507	broad.mit.edu	37	chr17	45915694	45915694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggtagagggtatgccgaCgatctacctgagtctggaat	13	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:45915694C>T	uc002imd.3	-	6	1187	c.1061G>A	c.(1060-1062)cGt>cAt	p.R354H	SCRN2_uc002imf.3_Missense_Mutation_p.R354H	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	Homo sapiens secernin 2 (SCRN2), transcript variant 1, mRNA.	354					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GGTATGCCGACGATCTACCTG	0.622													T	45915694	C	T	45915694	3	4	4	1	0	0	0	0	1	0	0	0	13939	536	19	1	242	1	SCRN2	17	45915694	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	469	45915694	35279516	3760	5825											
HOXB1	3211	broad.mit.edu	37	chr17	46607897	46607897	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgctccgtagccatcggAcaagccccctagctgggccc	10	18	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:46607897A>G	uc002ink.1	-	0	376	c.370T>C	c.(370-372)Tcc>Ccc	p.S124P	HOXB1_uc021tzf.1_Missense_Mutation_p.S124P	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	124						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TAGCCATCGGACAAGCCCCCT	0.627													G	46607897	A	G	46607897	3	3	4	1	0	0	0	0	1	0	0	0	7299	275	10	3	543	3	HOXB1	17	46607897	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	692203	46607897	34587313	3761	5826											
HOXB8	3218	broad.mit.edu	37	chr17	46690756	46690756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtcagtcccagggcgtgCgatacctcgattcgccgctt	11	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:46690756C>T	uc002inw.3	-	1	775	c.540G>A	c.(538-540)tcG>tcA	p.S180S	HOXB7_uc002inv.3_5'Flank	NM_024016	NP_076921	P17481	HXB8_HUMAN	Homo sapiens homeobox B8 (HOXB8), mRNA.	180						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						CCAGGGCGTGCGATACCTCGA	0.532													T	46690756	C	T	46690756	2	4	4	1	0	0	0	0	0	0	0	1	7307	755	27	1		1	HOXB8	17	46690756	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	82859	46690756	34504454	3762	5827											
ABI3	51225	broad.mit.edu	37	chr17	47295191	47295191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccggccagaaggtcatcGccccagagaacctaccccct	8	20	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:47295191G>A	uc002iop.1	+	2	874	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	ABI3_uc002ioq.1_Missense_Mutation_p.A120T	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Homo sapiens ABI family, member 3 (ABI3), transcript variant 1, mRNA.	126					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding	p.A126T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GAAGGTCATCGCCCCAGAGAA	0.607										HNSCC(55;0.14)			A	47295191	G	A	47295191	3	1	4	1	0	0	0	0	1	0	0	0	90	1087	38	1	386	1	ABI3	17	47295191	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	604435	47295191	33900019	3763	5828											
PHB	5245	broad.mit.edu	37	chr17	47486737	47486737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgatggacggcagcacacGctcatcatagtcctctccga	10	13	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:47486737G>A	uc002iox.1	-	3	422	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C		NM_002634	NP_002625	P35232	PHB_HUMAN	Homo sapiens prohibitin (PHB), mRNA.	117					DNA replication|cellular response to interleukin-6|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding	p.E116A(1)		endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			GGCAGCACACGCTCATCATAG	0.572													A	47486737	G	A	47486737	3	1	4	1	0	0	0	0	1	0	0	0	11814	1087	38	1	485	1	PHB	17	47486737	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	191546	47486737	33708473	3764	5829											
NGFR	4804	broad.mit.edu	37	chr17	47583719	47583719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagccgtgcaccgagtgCgtggggctccagagcatgtc	15	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:47583719C>T	uc002ioz.4	+	2	392	c.267C>T	c.(265-267)tgC>tgT	p.C89C		NM_002507	NP_002498	P08138	TNR16_HUMAN	Homo sapiens nerve growth factor receptor (NGFR), mRNA.	89					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCACCGAGTGCGTGGGGCTCC	0.672													T	47583719	C	T	47583719	2	4	4	1	0	0	0	0	0	0	0	1	10396	776	27	1		1	NGFR	17	47583719	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	96982	47583719	33611491	3765	5830											
ITGA3	3675	broad.mit.edu	37	chr17	48145498	48145498	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgggcaagtgctacgtgCgaggcaatgacctagagctg	16	8	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:48145498C>T	uc010dbm.3	+	3	957	c.493C>T	c.(493-495)Cga>Tga	p.R165*	ITGA3_uc010dbl.3_Nonsense_Mutation_p.R165*	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	165					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GTGCTACGTGCGAGGCAATGA	0.597													T	48145498	C	T	48145498	4	4	4	1	0	0	0	0	0	1	0	0	7877	760	27	1	507	1	ITGA3	17	48145498	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	561779	48145498	33049712	3766	5831											
PPP1R9B	84687	broad.mit.edu	37	chr17	48212980	48212980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgactcctccagaacccgacGctgtgcagtctcctttttca	7	16	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:48212980G>A	uc002iqh.4	-	9	2317	c.2314C>T	c.(2314-2316)Cgt>Tgt	p.R772C		NM_032595	NP_115984	Q96SB3	NEB2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9B (PPP1R9B), mRNA.	778	Interacts with TGN38 (By similarity).				RNA splicing|cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						AGAACCCGACGCTGTGCAGTC	0.622													A	48212980	G	A	48212980	3	1	4	1	0	0	0	0	1	0	0	0	12379	1087	38	1	123	1	PPP1R9B	17	48212980	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	67482	48212980	32982230	3767	5832											
COL1A1	1277	broad.mit.edu	37	chr17	48274561	48274561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggcccaggaggcccacGctcaccaggacgaccaggtt	13	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:48274561G>A	uc002iqm.3	-	9	856	c.730C>T	c.(730-732)Cgt>Tgt	p.R244C		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	244	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.R244H(2)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGAGGCCCACGCTCACCAGGA	0.607			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						A	48274561	G	A	48274561	3	1	4	1	0	0	0	0	1	0	0	0	3677	1087	38	1	3832	1	COL1A1	17	48274561	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	61581	48274561	32920649	3768	5833											
XYLT2	64132	broad.mit.edu	37	chr17	48433538	48433538	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactggaaccgcaagctgggCtgcaagtgccagtacaagca	12	11	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:48433538C>A	uc002iqo.3	+	6	1507	c.1398C>A	c.(1396-1398)ggC>ggA	p.G466G	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	466					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GCAAGCTGGGCTGCAAGTGCC	0.612													A	48433538	C	A	48433538	2	1	4	1	0	0	0	0	0	0	0	1	17461	784	28	5		5	XYLT2	17	48433538	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	158977	48433538	32761672	3769	5834											
EME1	146956	broad.mit.edu	37	chr17	48452901	48452901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgacccacaagcaactgaGccctgaggactctagctccc	8	16	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:48452901G>A	uc002iqs.2	+	1	414	c.332G>A	c.(331-333)aGc>aAc	p.S111N	MRPL27_uc002iqq.3_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.2_Missense_Mutation_p.S111N	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	Homo sapiens essential meiotic endonuclease 1 homolog 1 (S. pombe) (EME1), transcript variant 2, mRNA.	111					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			AAGCAACTGAGCCCTGAGGAC	0.433								Direct reversal of damage;Homologous recombination					A	48452901	G	A	48452901	3	1	4	1	0	0	0	0	1	0	0	0	5088	971	34	2	334	2	EME1	17	48452901	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	19363	48452901	32742309	3770	5835											
EPN3	55040	broad.mit.edu	37	chr17	48614339	48614339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggatgaggagcggctgcGgcaggagcgaacccacgccc	16	13	0	1	rs141722620	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:48614339G>A	uc010wms.2	+	2	775	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	EPN3_uc002ira.4_Missense_Mutation_p.R141Q|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_Missense_Mutation_p.R141Q			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	141						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GAGCGGCTGCGGCAGGAGCGA	0.657													A	48614339	G	A	48614339	3	1	4	1	0	0	0	0	1	0	0	0	5187	1116	39	1	424	1	EPN3	17	48614339	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	161438	48614339	32580871	3771	5836											
ABCC3	8714	broad.mit.edu	37	chr17	48755223	48755223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatccgggcctacaaccGcagccgggattttgagatca	11	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:48755223G>A	uc002isl.3	+	23	3577	c.3497G>A	c.(3496-3498)cGc>cAc	p.R1166H	ABCC3_uc002isn.3_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1166	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GCCTACAACCGCAGCCGGGAT	0.557													A	48755223	G	A	48755223	3	1	4	1	0	0	0	0	1	0	0	0	54	1087	38	1	3675	1	ABCC3	17	48755223	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	140884	48755223	32439987	3772	5837											
SPAG9	9043	broad.mit.edu	37	chr17	49091605	49091605	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatcatacctagtaaatctgCtccttcatccacatctccta	2	14	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:49091605C>A	uc002itc.3	-	8	1410	c.1201G>T	c.(1201-1203)Gca>Tca	p.A401S	SPAG9_uc002itd.3_Missense_Mutation_p.A387S|SPAG9_uc002itb.3_Missense_Mutation_p.A387S|SPAG9_uc002itf.3_Missense_Mutation_p.A222S|SPAG9_uc002ita.3_Missense_Mutation_p.A244S|SPAG9_uc002ite.3_Missense_Mutation_p.A231S	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	401					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AGTAAATCTGCTCCTTCATCC	0.348													A	49091605	C	A	49091605	3	1	4	1	0	0	0	0	1	0	0	0	14985	797	28	5	2852	5	SPAG9	17	49091605	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	336382	49091605	32103605	3773	5838											
SPAG9	9043	broad.mit.edu	37	chr17	49119004	49119004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattcctaatgatatagggCgttcttttctatttgaagag	8	5	2	3	rs139684309		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:49119004C>T	uc002itc.3	-	4	808	c.599G>A	c.(598-600)cGc>cAc	p.R200H	SPAG9_uc002itd.3_Missense_Mutation_p.R200H|SPAG9_uc002itb.3_Missense_Mutation_p.R200H|SPAG9_uc002itf.3_Missense_Mutation_p.R35H|SPAG9_uc002ita.3_Missense_Mutation_p.R57H|SPAG9_uc002ite.3_Missense_Mutation_p.R30H|SPAG9_uc002itg.3_Missense_Mutation_p.R57H	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	200					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TGATATAGGGCGTTCTTTTCT	0.403													T	49119004	C	T	49119004	3	4	4	1	0	0	0	0	1	0	0	0	14985	768	27	1	3470	1	SPAG9	17	49119004	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	27399	49119004	32076206	3774	5839											
KIF2B	84643	broad.mit.edu	37	chr17	51901021	51901021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcagtcctggagcccccGcaagaacatcgcatctgcgt	9	15	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:51901021G>A	uc002iua.2	+	0	783	c.627G>A	c.(625-627)ccG>ccA	p.P209P	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	209					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.P209L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGAGCCCCCGCAAGAACATC	0.537													A	51901021	G	A	51901021	2	1	4	1	0	0	0	0	0	0	0	1	8298	1074	38	1		1	KIF2B	17	51901021	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2782017	51901021	29294189	3775	5840											
TMEM100	55273	broad.mit.edu	37	chr17	53798230	53798230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgcggtgaccacgatgcCggcgatgaagacaaccacag	12	14	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:53798230C>T	uc002iuj.4	-	1	513	c.202G>A	c.(202-204)Ggc>Agc	p.G68S	TMEM100_uc002iuk.4_Missense_Mutation_p.G68S|TMEM100_uc021uai.1_Missense_Mutation_p.G68S	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	Homo sapiens transmembrane protein 100 (TMEM100), transcript variant 2, mRNA.	68						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						ACCACGATGCCGGCGATGAAG	0.527													T	53798230	C	T	53798230	3	4	4	1	0	0	0	0	1	0	0	0	16012	652	23	1	206	1	TMEM100	17	53798230	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1897209	53798230	27396980	3776	5841											
ANKFN1	162282	broad.mit.edu	37	chr17	54543825	54543825	+	Frame_Shift_Del	DEL	T	T	-													aggtggagatgctttattcaTtttttaatggcaaatggatg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:54543824_54543824AT>A	uc002iun.1	+	13	1709	c.1674_1674AT>A	c.(1672-1674)tcafs	p.S558fs		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	558										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGCTTTATTCATTTTTTAATG	0.413													-	54543825	T	-	54543825	7	5	4	1	0	1	0	1	0	0	0	0	625	1493	52	0	1729	0	ANKFN1	17	54543825	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	745595	54543825	26651385	3777	5842											
DGKE	8526	broad.mit.edu	37	chr17	54925404	54925404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagggtgggtcctggatgCagttgatgacatgaagatta	15	4	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:54925404C>T	uc002iur.3	+	4	1046	c.866C>T	c.(865-867)gCa>gTa	p.A289V	DGKE_uc002ius.1_Missense_Mutation_p.A289V	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	289	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					GTCCTGGATGCAGTTGATGAC	0.383													T	54925404	C	T	54925404	3	4	4	1	0	0	0	0	1	0	0	0	4468	710	25	2	880	2	DGKE	17	54925404	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	381579	54925404	26269806	3778	5843											
TRIM25	7706	broad.mit.edu	37	chr17	54976496	54976496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagaccttcttcacagggCgtgtggatttgtgtgtggac	15	7	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:54976496C>T	uc002iut.3	-	4	1193	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	TRIM25_uc010dcj.3_Missense_Mutation_p.R170H	NM_005082	NP_005073	Q14258	TRI25_HUMAN	Homo sapiens tripartite motif containing 25 (TRIM25), mRNA.	378	Interaction with influenza A virus NS1.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CTTCACAGGGCGTGTGGATTT	0.602													T	54976496	C	T	54976496	3	4	4	1	0	0	0	0	1	0	0	0	16496	768	27	1	779	1	TRIM25	17	54976496	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	51092	54976496	26218714	3779	5844											
AKAP1	8165	broad.mit.edu	37	chr17	55184443	55184443	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccgccactgccagaaagtActgtgcccttcagcaatggg	10	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:55184443A>G	uc010wnl.2	+	2	1900	c.1618A>G	c.(1618-1620)Act>Gct	p.T540A	AKAP1_uc002iux.3_Missense_Mutation_p.T540A|AKAP1_uc021uak.1_Missense_Mutation_p.T540A|AKAP1_uc010dcm.3_Missense_Mutation_p.T540A|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	540					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GCCAGAAAGTACTGTGCCCTT	0.567													G	55184443	A	G	55184443	3	3	4	1	0	0	0	0	1	0	0	0	445	391	14	3	1620	3	AKAP1	17	55184443	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	207947	55184443	26010767	3780	5845											
LPO	4025	broad.mit.edu	37	chr17	56326511	56326511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacccgtgcagcccttaccGcaccattacgggagactgca	10	16	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:56326511G>A	uc002ivt.3	+	4	732	c.416G>A	c.(415-417)cGc>cAc	p.R139H	LPO_uc010dco.2_Missense_Mutation_p.R139H|LPO_uc010wnr.1_Missense_Mutation_p.R56H|LPO_uc010wns.2_Missense_Mutation_p.R80H|LPO_uc010dcp.3_Missense_Mutation_p.R56H|LPO_uc010dcq.3_5'UTR	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	139					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.R139H(2)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AGCCCTTACCGCACCATTACG	0.627													A	56326511	G	A	56326511	3	1	4	1	0	0	0	0	1	0	0	0	8922	1087	38	1	430	1	LPO	17	56326511	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1142068	56326511	24868699	3781	5846											
RNF43	54894	broad.mit.edu	37	chr17	56435094	56435094	+	Frame_Shift_Del	DEL	A	A	-													acactgggggtgtaatggggAaaaatctggcaagctgggtg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:56435093_56435093GA>G	uc002iwf.3	-	7	4000	c.2044_2044TC>C	c.(2044-2046)cccfs	p.P682fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.P641fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.P682fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.P682fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.P555fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	682	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTGTAATGGGGAAAAATCTGG	0.627													-	56435094	A	-	56435094	7	5	4	1	0	1	0	1	0	0	0	0	13495	243	9	0	316	0	RNF43	17	56435094	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	108583	56435094	24760116	3782	5847											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	4	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	67	56435161	24760049	3783	5848											
HSF5	124535	broad.mit.edu	37	chr17	56565340	56565340	+	Frame_Shift_Del	DEL	C	C	-													cattgcctgccggtttgccgCcccccggcccgcccagcacc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:56565340delC	uc002iwi.1	-	1	420	c.296delG	c.(295-297)GGCfs	p.G99fs		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	99	By similarity.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGGTTTGCCGCCCCCCGGCCC	0.637													-	56565340	C	-	56565340	7	5	4	1	0	1	0	1	0	0	0	0	7399	739	26	0	1518	0	HSF5	17	56565340	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	130179	56565340	24629870	3784	5849											
PPM1E	22843	broad.mit.edu	37	chr17	57058136	57058136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctagattgtctcatttacGccaccactactcaaagaagt	5	11	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:57058136G>A	uc002iwx.3	+	6	2139	c.2012G>A	c.(2011-2013)cGc>cAc	p.R671H	PPM1E_uc010ddd.3_Missense_Mutation_p.R434H	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA.	680					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			TCTCATTTACGCCACCACTAC	0.428													A	57058136	G	A	57058136	3	1	4	1	0	0	0	0	1	0	0	0	12338	1087	38	1	2038	1	PPM1E	17	57058136	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	492796	57058136	24137074	3785	5850											
CLTC	1213	broad.mit.edu	37	chr17	57725723	57725723	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaatgcagaagaatcaacGttattttgttttgcagttcg	10	5	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:57725723G>A	uc002ixr.1	+	3	1097	c.654G>A	c.(652-654)acG>acA	p.T218T	CLTC_uc002ixp.3_Silent_p.T214T|CLTC_uc002ixq.1_Silent_p.T214T	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	214	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AAGAATCAACGTTATTTTGTT	0.398			T	"ALK, TFE3"	"ALCL, renal "								A	57725723	G	A	57725723	2	1	4	1	0	0	0	0	0	0	0	1	3566	1132	40	1		1	CLTC	17	57725723	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	667587	57725723	23469487	3786	5851											
CLTC	1213	broad.mit.edu	37	chr17	57743595	57743595	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgaaccttatgcatgcGcctcaagtatgtgttttaat	9	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:57743595G>A	uc002ixr.1	+	10	2231	c.1788G>A	c.(1786-1788)gcG>gcA	p.A596A	CLTC_uc002ixp.3_Silent_p.A592A|CLTC_uc002ixq.1_Silent_p.A592A	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	592	Distal segment.|Heavy chain arm.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTATGCATGCGCCTCAAGTAT	0.433			T	"ALK, TFE3"	"ALCL, renal "								A	57743595	G	A	57743595	2	1	4	1	0	0	0	0	0	0	0	1	3566	1074	38	1		1	CLTC	17	57743595	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	17872	57743595	23451615	3787	5852											
USP32	84669	broad.mit.edu	37	chr17	58365944	58365944	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcactatcatcagtgagggTaacatacacacctccagata	6	11	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:58365944T>C	uc002iyo.1	-	4	797	c.511A>G	c.(511-513)Acc>Gcc	p.T171A	USP32_uc010wov.1_Missense_Mutation_p.T171A	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	171					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCAGTGAGGGTAACATACACA	0.363													C	58365944	T	C	58365944	3	2	4	1	0	0	0	0	1	0	0	0	17060	1638	57	3	4423	3	USP32	17	58365944	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	622349	58365944	22829266	3788	5853											
PPM1D	8493	broad.mit.edu	37	chr17	58740851	58740851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgcgacgcagacttaggGgccagaagaaaattggaaat	12	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:58740851G>A	uc002iyt.2	+	5	1988	c.1756G>A	c.(1756-1758)Ggc>Agc	p.G586S	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	586					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			CAGACTTAGGGGCCAGAAGAA	0.438											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	A	58740851	G	A	58740851	3	1	4	1	0	0	0	0	1	0	0	0	12337	1232	43	4	1778	4	PPM1D	17	58740851	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	374907	58740851	22454359	3789	5854											
BCAS3	54828	broad.mit.edu	37	chr17	59155837	59155837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcatggtccgagtgacacGccacagcctcttttggattt	9	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:59155837G>A	uc002iyv.4	+	21	2428	c.2319G>A	c.(2317-2319)acG>acA	p.T773T	BCAS3_uc002iyu.4_Silent_p.T758T|BCAS3_uc002iyw.4_Silent_p.T754T|BCAS3_uc002iyy.4_Silent_p.T529T|BCAS3_uc002iyz.4_Silent_p.T327T|BCAS3_uc002iza.4_Silent_p.T312T	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	773						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CGAGTGACACGCCACAGCCTC	0.438													A	59155837	G	A	59155837	2	1	4	1	0	0	0	0	0	0	0	1	1352	1074	38	1		1	BCAS3	17	59155837	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	414986	59155837	22039373	3790	5855											
TBX4	9496	broad.mit.edu	37	chr17	59556066	59556066	+	Frame_Shift_Del	DEL	A	A	-													agaacaatgctttcggctccAaaaacactgctttctgcacc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:59556065_59556065CA>C	uc010ddo.3	+	5	790	c.627_627CA>C	c.(625-627)tccfs	p.S209fs	TBX4_uc002izi.3_Frame_Shift_Del_p.S209fs|TBX4_uc010woy.2_Frame_Shift_Del_p.S209fs	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	209					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CTTTCGGCTCCAAAAACACTG	0.527													-	59556066	A	-	59556066	7	5	4	1	0	1	0	1	0	0	0	0	15657	131	5	0	646	0	TBX4	17	59556066	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	400229	59556066	21639144	3791	5856											
INTS2	57508	broad.mit.edu	37	chr17	59971251	59971251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggacccgaactgcatgagCtgtgacaacctaaaagggaa	12	9	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:59971251C>T	uc002izn.3	-	12	1673	c.1597G>A	c.(1597-1599)Gct>Act	p.A533T	INTS2_uc002izm.3_Missense_Mutation_p.A525T	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	533					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						ACTGCATGAGCTGTGACAACC	0.373													T	59971251	C	T	59971251	3	4	4	1	0	0	0	0	1	0	0	0	7778	797	28	2	2069	2	INTS2	17	59971251	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	415185	59971251	21223959	3792	5857											
MED13	9969	broad.mit.edu	37	chr17	60087922	60087922	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatacatactctgtaactgaTgttacactttcctgtccaaa	4	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:60087922T>C	uc002izo.3	-	8	2033	c.1956A>G	c.(1954-1956)acA>acG	p.T652T	MED13_uc002izp.3_Silent_p.T268T	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	652					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTGTAACTGATGTTACACTTT	0.348													C	60087922	T	C	60087922	2	2	4	1	0	0	0	0	0	0	0	1	9430	1451	51	3		3	MED13	17	60087922	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	116671	60087922	21107288	3793	5858											
TLK2	11011	broad.mit.edu	37	chr17	60673966	60673966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgcatgtagggaataccGgattcataaagagctggatc	12	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:60673966G>A	uc010ddp.3	+	17	1815	c.1547G>A	c.(1546-1548)cGg>cAg	p.R516Q	TLK2_uc002izx.4_Missense_Mutation_p.R342Q|TLK2_uc002izz.4_Missense_Mutation_p.R494Q|TLK2_uc002jaa.4_Missense_Mutation_p.R462Q|TLK2_uc010wpd.2_Missense_Mutation_p.R462Q	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	Homo sapiens tousled-like kinase 2 (TLK2), transcript variant A, mRNA.	516	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AGGGAATACCGGATTCATAAA	0.378													A	60673966	G	A	60673966	3	1	4	1	0	0	0	0	1	0	0	0	15941	1116	39	1	1543	1	TLK2	17	60673966	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	586044	60673966	20521244	3794	5859											
MARCH10	162333	broad.mit.edu	37	chr17	60879031	60879031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactcagagtccaccttatgCtgcatgtcccgcagatactg	8	13	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:60879031C>T	uc010dds.3	-	1	351	c.66G>A	c.(64-66)caG>caA	p.Q22Q	MARCH10_uc010ddr.3_Silent_p.Q22Q|MARCH10_uc002jag.4_Silent_p.Q22Q|MARCH10_uc002jah.2_Silent_p.Q22Q	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	22							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CCACCTTATGCTGCATGTCCC	0.443													T	60879031	C	T	60879031	2	4	4	1	0	0	0	0	0	0	0	1	9299	796	28	2		2	MARCH10	17	60879031	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	205065	60879031	20316179	3795	5860											
ACE	1636	broad.mit.edu	37	chr17	61571353	61571353	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccccttcagctacctcgtCgatcagtggcgctggagggt	12	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:61571353C>T	uc002jau.2	+	20	3241	c.3207C>T	c.(3205-3207)gtC>gtT	p.V1069V	ACE_uc010wpj.2_Silent_p.V495V|ACE_uc010ddv.2_Silent_p.V296V|ACE_uc002jav.2_Silent_p.V495V|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Silent_p.V315V	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	1069	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GCTACCTCGTCGATCAGTGGC	0.537													T	61571353	C	T	61571353	2	4	4	1	0	0	0	0	0	0	0	1	136	871	31	1		1	ACE	17	61571353	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	692322	61571353	19623857	3796	5861											
KCNH6	81033	broad.mit.edu	37	chr17	61611628	61611628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcattgacatggtggccGccatccctttcgacctcctg	8	16	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:61611628G>A	uc002jay.3	+	4	1137	c.1057G>A	c.(1057-1059)Gcc>Acc	p.A353T	KCNH6_uc002jax.1_Missense_Mutation_p.A353T|KCNH6_uc010wpl.2_Missense_Mutation_p.A230T|KCNH6_uc010wpm.2_Missense_Mutation_p.A353T|KCNH6_uc002jaz.1_Missense_Mutation_p.A353T	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	353					regulation of transcription, DNA-dependent|signal transduction			p.A353T(2)|p.A352T(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CATGGTGGCCGCCATCCCTTT	0.622													A	61611628	G	A	61611628	3	1	4	1	0	0	0	0	1	0	0	0	8036	1087	38	1	1075	1	KCNH6	17	61611628	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	40275	61611628	19583582	3797	5862											
DDX42	11325	broad.mit.edu	37	chr17	61895700	61895700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaagacagataagacagCtgacggctttgctgtcccag	11	11	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:61895700C>T	uc002jbu.3	+	18	3016	c.2759C>T	c.(2758-2760)gCt>gTt	p.A920V	DDX42_uc002jbv.3_Missense_Mutation_p.A920V|DDX42_uc002jbx.3_Missense_Mutation_p.A656V|DDX42_uc002jby.3_Missense_Mutation_p.A466V|DDX42_uc010wps.2_Missense_Mutation_p.A288V	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	920					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GATAAGACAGCTGACGGCTTT	0.473													T	61895700	C	T	61895700	3	4	4	1	0	0	0	0	1	0	0	0	4362	797	28	2	2825	2	DDX42	17	61895700	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	284072	61895700	19299510	3798	5863											
SCN4A	6329	broad.mit.edu	37	chr17	62026054	62026054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcttgaagcaggccctgcGcagagtccaccacttcttcc	8	15	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:62026054G>A	uc002jds.1	-	15	3138	c.3061C>T	c.(3061-3063)Cgc>Tgc	p.R1021C		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1021					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1021R(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CAGGCCCTGCGCAGAGTCCAC	0.617													A	62026054	G	A	62026054	3	1	4	1	0	0	0	0	1	0	0	0	13920	1087	38	1	2485	1	SCN4A	17	62026054	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	130354	62026054	19169156	3799	5864											
SMURF2	64750	broad.mit.edu	37	chr17	62574630	62574630	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcactcttggatcatgCcatgtgctcacaccagtctg	10	13	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:62574630C>T	uc002jep.1	-	8	1225	c.837G>A	c.(835-837)tgG>tgA	p.W279*	SMURF2_uc002jeq.1_Nonsense_Mutation_p.W38*|SMURF2_uc002jer.1_Nonsense_Mutation_p.W38*	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 2 (SMURF2), mRNA.	279	WW 2.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	SMAD binding|identical protein binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TTGGATCATGCCATGTGCTCA	0.368													T	62574630	C	T	62574630	4	4	4	1	0	0	0	0	0	1	0	0	14820	740	26	2	1453	2	SMURF2	17	62574630	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	548576	62574630	18620580	3800	5865											
RGS9	8787	broad.mit.edu	37	chr17	63221135	63221135	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacagccgggccagcacatgGctcccagcccccatctgacc	9	19	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:63221135G>T	uc002jfe.3	+	17	1626	c.1423G>T	c.(1423-1425)Gct>Tct	p.A475S	RGS9_uc010dem.3_Missense_Mutation_p.A472S|RGS9_uc002jfd.3_Missense_Mutation_p.A472S|RGS9_uc002jfg.3_Missense_Mutation_p.A246S	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	475					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCAGCACATGGCTCCCAGCCC	0.642													T	63221135	G	T	63221135	3	4	4	1	0	0	0	0	1	0	0	0	13313	1203	42	5	1548	5	RGS9	17	63221135	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	646505	63221135	17974075	3801	5866											
APOH	350	broad.mit.edu	37	chr17	64216750	64216750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaaacatcgcatgttgtgGcaaacattcaaaaactgctg	7	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:64216750G>A	uc002jfn.4	-	4	585	c.526C>T	c.(526-528)Cca>Tca	p.P176S		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	176	Sushi 3.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GCATGTTGTGGCAAACATTCA	0.428													A	64216750	G	A	64216750	3	1	4	1	0	0	0	0	1	0	0	0	804	1203	42	2	527	2	APOH	17	64216750	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	995615	64216750	16978460	3802	5867											
HELZ	9931	broad.mit.edu	37	chr17	65184657	65184657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtagtactatctccggCagatattgcaatgatactaa	9	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:65184657C>T	uc010wqk.2	-	11	1127	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.A314T	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTATCTCCGGCAGATATTGCA	0.393													T	65184657	C	T	65184657	3	4	4	1	0	0	0	0	1	0	0	0	7049	710	25	2	4976	2	HELZ	17	65184657	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	967907	65184657	16010553	3803	5868											
BPTF	2186	broad.mit.edu	37	chr17	65850239	65850239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgagattatctccttttcGctttgaggacttttgtgcag	9	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:65850239G>A	uc002jgf.3	+	1	858	c.797G>A	c.(796-798)cGc>cAc	p.R266H	BPTF_uc002jge.3_Missense_Mutation_p.R266H|BPTF_uc010wqm.1_Missense_Mutation_p.R266H	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	266	DDT.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTCCTTTTCGCTTTGAGGAC	0.443													A	65850239	G	A	65850239	3	1	4	1	0	0	0	0	1	0	0	0	1495	1087	38	1	803	1	BPTF	17	65850239	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	665582	65850239	15344971	3804	5869											
BPTF	2186	broad.mit.edu	37	chr17	65908478	65908478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgctgagttcttcagatgCtgaaggtaactaccgagata	10	7	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:65908478C>T	uc002jgf.3	+	10	4539	c.4478C>T	c.(4477-4479)gCt>gTt	p.A1493V	BPTF_uc002jge.3_Missense_Mutation_p.A1619V	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1619					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTTCAGATGCTGAAGGTAAC	0.433													T	65908478	C	T	65908478	3	4	4	1	0	0	0	0	1	0	0	0	1495	797	28	2	4906	2	BPTF	17	65908478	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	58239	65908478	15286732	3805	5870											
BPTF	2186	broad.mit.edu	37	chr17	65916176	65916176	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacagaaataattaagaggaGagatgttggtccttatggca	11	4	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:65916176G>T	uc002jgf.3	+	12	5535	c.5474G>T	c.(5473-5475)aGa>aTa	p.R1825I	BPTF_uc002jge.3_Missense_Mutation_p.R1951I	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1951					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATTAAGAGGAGAGATGTTGGT	0.328													T	65916176	G	T	65916176	3	4	4	1	0	0	0	0	1	0	0	0	1495	942	33	5	5910	5	BPTF	17	65916176	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	7698	65916176	15279034	3806	5871											
BPTF	2186	broad.mit.edu	37	chr17	65928049	65928049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcacagggcctcagattcGccctggtatgaccgtgatta	10	11	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:65928049G>A	uc002jgf.3	+	17	6234	c.6173G>A	c.(6172-6174)cGc>cAc	p.R2058H	BPTF_uc002jge.3_Missense_Mutation_p.R2184H	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	2184					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCTCAGATTCGCCCTGGTATG	0.383													A	65928049	G	A	65928049	3	1	4	1	0	0	0	0	1	0	0	0	1495	1087	38	1	6629	1	BPTF	17	65928049	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	11873	65928049	15267161	3807	5872											
ARSG	22901	broad.mit.edu	37	chr17	66343311	66343311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttatcaccccaacttccGtggtaagaattcttttgggg	8	11	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:66343311G>A	uc002jhc.2	+	3	1248	c.452G>A	c.(451-453)cGt>cAt	p.R151H		NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Homo sapiens arylsulfatase G (ARSG), mRNA.	151					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCCAACTTCCGTGGTAAGAAT	0.463													A	66343311	G	A	66343311	3	1	4	1	0	0	0	0	1	0	0	0	992	1145	40	1	462	1	ARSG	17	66343311	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	415262	66343311	14851899	3808	5873											
WIPI1	55062	broad.mit.edu	37	chr17	66431771	66431771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggactcactttttcagacGcacttgctagtttggagcct	10	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:66431771G>A	uc010dey.3	-	5	702	c.611C>T	c.(610-612)gCg>gTg	p.A204V	WIPI1_uc010wqo.2_Missense_Mutation_p.A122V	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 1 (WIPI1), mRNA.	204					macroautophagy|vesicle targeting, trans-Golgi to endosome	PAS complex|autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	p.A204V(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TTTTTCAGACGCACTTGCTAG	0.517											OREG0024688	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	66431771	G	A	66431771	3	1	4	1	0	0	0	0	1	0	0	0	17367	1087	38	1	761	1	WIPI1	17	66431771	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	88460	66431771	14763439	3809	5874											
PRKAR1A	5573	broad.mit.edu	37	chr17	66511578	66511578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgccagtgaggaggcacGcagccttcgagaatgtgagc	15	12	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:66511578G>A	uc002jhg.3	+	1	218	c.38G>A	c.(37-39)cGc>cAc	p.R13H	PRKAR1A_uc002jhh.3_Missense_Mutation_p.R13H|PRKAR1A_uc002jhi.3_Missense_Mutation_p.R13H|PRKAR1A_uc002jhj.3_Missense_Mutation_p.R13H|PRKAR1A_uc002jhk.3_5'UTR|PRKAR1A_uc002jhl.3_Missense_Mutation_p.R13H	NM_212471	NP_997637	P10644	KAP0_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) (PRKAR1A), transcript variant 2, mRNA.	13	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					GAGGAGGCACGCAGCCTTCGA	0.483			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				A	66511578	G	A	66511578	3	1	4	1	0	0	0	0	1	0	0	0	12503	1087	38	1	40	1	PRKAR1A	17	66511578	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	79807	66511578	14683632	3810	5875											
ABCA8	10351	broad.mit.edu	37	chr17	66864467	66864467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagggtagactgtgagaggCtgtactcctctaggtcaaag	13	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:66864467C>T	uc002jhq.3	-	38	5082	c.4742G>A	c.(4741-4743)aGc>aAc	p.S1581N	ABCA8_uc002jhp.3_Missense_Mutation_p.S1541N|ABCA8_uc010wqq.2_Missense_Mutation_p.S1576N	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1541						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CTGTGAGAGGCTGTACTCCTC	0.418													T	66864467	C	T	66864467	3	4	4	1	0	0	0	0	1	0	0	0	38	797	28	2	131	2	ABCA8	17	66864467	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	352889	66864467	14330743	3811	5876											
ABCA9	10350	broad.mit.edu	37	chr17	67016615	67016615	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcctccagagcgccacGccactgattgttttccttgt	9	14	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:67016615G>A	uc002jhu.3	-	18	2657	c.2514C>T	c.(2512-2514)ggC>ggT	p.G838G	ABCA9_uc010dez.3_Silent_p.G838G	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	838					transport	integral to membrane	ATP binding|ATPase activity	p.G838G(2)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AGAGCGCCACGCCACTGATTG	0.443													A	67016615	G	A	67016615	2	1	4	1	0	0	0	0	0	0	0	1	39	1074	38	1		1	ABCA9	17	67016615	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	152148	67016615	14178595	3812	5877											
ABCA6	23460	broad.mit.edu	37	chr17	67096998	67096998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattaaacatttgaagtagCccattgctgataatattcat	6	6	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:67096998C>T	uc002jhw.1	-	21	3127	c.2952G>A	c.(2950-2952)ggG>ggA	p.G984G	MIR4524A_uc021ucg.1_5'Flank	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	984					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTTGAAGTAGCCCATTGCTGA	0.303													T	67096998	C	T	67096998	2	4	4	1	0	0	0	0	0	0	0	1	36	726	26	2		2	ABCA6	17	67096998	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	80383	67096998	14098212	3813	5878											
ABCA6	23460	broad.mit.edu	37	chr17	67102220	67102220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttaagaaacggagccgtGccatggcaaagacttgcatt	10	9	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:67102220G>A	uc002jhw.1	-	18	2697	c.2522C>T	c.(2521-2523)gCa>gTa	p.A841V		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	841					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACGGAGCCGTGCCATGGCAAA	0.438													A	67102220	G	A	67102220	3	1	4	1	0	0	0	0	1	0	0	0	36	1319	46	2	2415	2	ABCA6	17	67102220	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5222	67102220	14092990	3814	5879											
ABCA10	10349	broad.mit.edu	37	chr17	67210910	67210910	+	Frame_Shift_Del	DEL	A	A	-													gagtatcaaatgccaaaatgAaaaaagtggctatcattttg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:67210909_67210909GA>G	uc010dfa.1	-	9	1821	c.942_942TC>C	c.(940-942)ttcfs	p.F314fs	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'UTR|ABCA10_uc010dfc.1_Frame_Shift_Del_p.F206fs	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	314					transport	integral to membrane	ATP binding|ATPase activity	p.I315fs*5(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATGCCAAAATGAAAAAAGTGG	0.303													-	67210910	A	-	67210910	7	5	4	1	0	1	0	1	0	0	0	0	29	246	9	0	3814	0	ABCA10	17	67210910	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	108690	67210910	13984300	3815	5880											
ABCA10	10349	broad.mit.edu	37	chr17	67212456	67212456	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccagagccataaaaatggAcataatgaagatgaagcaaa	9	6	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:67212456A>G	uc010dfa.1	-	7	1453	c.574T>C	c.(574-576)Tcc>Ccc	p.S192P	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'Flank|ABCA10_uc010dfc.1_Missense_Mutation_p.S84P	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	192					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATAAAAATGGACATAATGAAG	0.373													G	67212456	A	G	67212456	3	3	4	1	0	0	0	0	1	0	0	0	29	275	10	3	4189	3	ABCA10	17	67212456	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1546	67212456	13982754	3816	5881											
ABCA5	23461	broad.mit.edu	37	chr17	67252377	67252377	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcttcatcctcattgTctggtggttctggaagcttc	8	11	6	0	rs11544716		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:67252377T>G	uc002jif.2	-	27	4997	c.3779A>C	c.(3778-3780)gAc>gCc	p.D1260A	ABCA5_uc002jib.2_Missense_Mutation_p.D226A|ABCA5_uc002jic.2_Missense_Mutation_p.D483A|ABCA5_uc002jid.2_Missense_Mutation_p.D177A|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.D1260A	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1260			D -> G (in dbSNP:rs11544716).		cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ATCCTCATTGTCTGGTGGTTC	0.333													G	67252377	T	G	67252377	3	3	4	1	0	0	0	0	1	0	0	0	35	1667	58	5	1193	5	ABCA5	17	67252377	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	39921	67252377	13942833	3817	5882											
KCNJ2	3759	broad.mit.edu	37	chr17	68172423	68172423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacaaccaggcaagtgtaCctctagagcccaggccctta	8	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:68172423C>T	uc010dfg.3	+	1	1644	c.1243C>T	c.(1243-1245)Cct>Tct	p.P415S	KCNJ2_uc002jir.3_Missense_Mutation_p.P415S|KCNJ2_uc021ucj.1_Missense_Mutation_p.P415S	NM_000891	NP_000882	P63252	IRK2_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 2 (KCNJ2), mRNA.	415					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GGCAAGTGTACCTCTAGAGCC	0.512													T	68172423	C	T	68172423	3	4	4	1	0	0	0	0	1	0	0	0	8051	507	18	4	1245	4	KCNJ2	17	68172423	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	920046	68172423	13022787	3818	5883											
COG1	9382	broad.mit.edu	37	chr17	71197469	71197469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggtcagtttgccagtagCggcctctccatgaaagcaca	12	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:71197469C>T	uc002jjg.3	+	6	1539	c.1503C>T	c.(1501-1503)agC>agT	p.S501S	COG1_uc002jjf.1_Silent_p.S501S|COG1_uc002jjh.3_Silent_p.S501S	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	Homo sapiens component of oligomeric golgi complex 1 (COG1), mRNA.	501					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TTGCCAGTAGCGGCCTCTCCA	0.532													T	71197469	C	T	71197469	2	4	4	1	0	0	0	0	0	0	0	1	3657	767	27	1		1	COG1	17	71197469	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3025046	71197469	9997741	3819	5884											
BTBD17	388419	broad.mit.edu	37	chr17	72352858	72352858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaggtgcaggtgcagggCgttctcaaccaggtactcgg	16	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:72352858C>T	uc002jkn.2	-	2	1375	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	Homo sapiens BTB (POZ) domain containing 17 (BTBD17), mRNA.	459						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						AGGTGCAGGGCGTTCTCAACC	0.647													T	72352858	C	T	72352858	3	4	4	1	0	0	0	0	1	0	0	0	1542	768	27	1	65	1	BTBD17	17	72352858	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1155389	72352858	8842352	3820	5885											
NT5C	30833	broad.mit.edu	37	chr17	73126663	73126663	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagagcagccgtctccttgTcgggggcaggaccaggtgcc	17	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:73126663T>C	uc002jmx.3	-	4	614	c.526A>G	c.(526-528)Aca>Gca	p.T176A	NT5C_uc002jmy.3_Non-coding_Transcript|NT5C_uc021ucw.1_Missense_Mutation_p.T136A	NM_014595	NP_055410	Q8TCD5	NT5C_HUMAN	Homo sapiens 5', 3'-nucleotidase, cytosolic (NT5C), transcript variant 1, mRNA.	176					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			CGTCTCCTTGTCGGGGGCAGG	0.632											OREG0024728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	73126663	T	C	73126663	3	2	4	1	0	0	0	0	1	0	0	0	10684	1667	58	3	83	3	NT5C	17	73126663	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	773805	73126663	8068547	3821	5886											
GGA3	23163	broad.mit.edu	37	chr17	73235918	73235918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcatccaggtggtgcagcGcgctgttgcccaacgccaag	15	13	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:73235918G>A	uc002jni.2	-	12	1574	c.1535C>T	c.(1534-1536)gCg>gTg	p.A512V	GGA3_uc002jnk.2_Missense_Mutation_p.A440V|GGA3_uc002jnj.2_Missense_Mutation_p.A479V|GGA3_uc010wry.2_Missense_Mutation_p.A440V|GGA3_uc010wrw.2_Missense_Mutation_p.A390V|GGA3_uc010wrx.2_Missense_Mutation_p.A390V	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA.	512	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GTGGTGCAGCGCGCTGTTGCC	0.602													A	73235918	G	A	73235918	3	1	4	1	0	0	0	0	1	0	0	0	6354	1087	38	1	744	1	GGA3	17	73235918	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	109255	73235918	7959292	3822	5887											
GGA3	23163	broad.mit.edu	37	chr17	73236020	73236020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacaaggaggagcccgcaCtgggggcaggaacactggct	15	10	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:73236020C>T	uc002jni.2	-	12	1472	c.1433G>A	c.(1432-1434)aGt>aAt	p.S478N	GGA3_uc002jnk.2_Missense_Mutation_p.S406N|GGA3_uc002jnj.2_Missense_Mutation_p.S445N|GGA3_uc010wry.2_Missense_Mutation_p.S406N|GGA3_uc010wrw.2_Missense_Mutation_p.S356N|GGA3_uc010wrx.2_Missense_Mutation_p.S356N	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA.	478	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GGAGCCCGCACTGGGGGCAGG	0.657													T	73236020	C	T	73236020	3	4	4	1	0	0	0	0	1	0	0	0	6354	565	20	4	846	4	GGA3	17	73236020	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	102	73236020	7959190	3823	5888											
LLGL2	3993	broad.mit.edu	37	chr17	73566553	73566553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgggtgtccagccggaagCggcacccggctggcccccca	15	18	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:73566553C>T	uc002joh.3	+	15	2153	c.1999C>T	c.(1999-2001)Cgg>Tgg	p.R667W	LLGL2_uc002joi.3_Missense_Mutation_p.R667W|LLGL2_uc010dgg.2_Missense_Mutation_p.R667W|LLGL2_uc002joj.3_Missense_Mutation_p.R656W|LLGL2_uc010wsd.2_Missense_Mutation_p.R294W	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	667					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGCCGGAAGCGGCACCCGGC	0.706													T	73566553	C	T	73566553	3	4	4	1	0	0	0	0	1	0	0	0	8834	759	27	1	2092	1	LLGL2	17	73566553	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	330533	73566553	7628657	3824	5889											
EVPL	2125	broad.mit.edu	37	chr17	74005331	74005331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgggtccttctcgtggcGcaccacctccttgctcaccg	9	19	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:74005331G>A	uc010wss.1	-	21	4249	c.4021C>T	c.(4021-4023)Cgc>Tgc	p.R1341C	EVPL_uc002jqi.2_Missense_Mutation_p.R1319C|EVPL_uc010wst.1_Missense_Mutation_p.R789C	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1319	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TTCTCGTGGCGCACCACCTCC	0.701													A	74005331	G	A	74005331	3	1	4	1	0	0	0	0	1	0	0	0	5292	1087	38	1	2150	1	EVPL	17	74005331	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	438778	74005331	7189879	3825	5890											
QRICH2	84074	broad.mit.edu	37	chr17	74287572	74287572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcacctgggccaggtgatGccacatgctgttgatctggg	14	11	2	2	rs144710718	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:74287572G>A	uc002jrd.1	-	3	2918	c.2738C>T	c.(2737-2739)gCa>gTa	p.A913V	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	913							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GCCAGGTGATGCCACATGCTG	0.502													A	74287572	G	A	74287572	3	1	4	1	0	0	0	0	1	0	0	0	12880	1319	46	2	2317	2	QRICH2	17	74287572	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	282241	74287572	6907638	3826	5891											
QRICH2	84074	broad.mit.edu	37	chr17	74289360	74289360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaagtggttccatactgCgttggtctgtgccaggaaat	12	9	1	0	rs144671527	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:74289360C>T	uc002jrd.1	-	3	1130	c.950G>A	c.(949-951)cGc>cAc	p.R317H	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	317							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TTCCATACTGCGTTGGTCTGT	0.493													T	74289360	C	T	74289360	3	4	4	1	0	0	0	0	1	0	0	0	12880	768	27	1	4105	1	QRICH2	17	74289360	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1788	74289360	6905850	3827	5892											
CYGB	114757	broad.mit.edu	37	chr17	74527194	74527194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcactggcaaattcctcggCgaccacctccagaatgaccc	8	16	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:74527194C>T	uc002jru.1	-	2	564	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	PRCD_uc002jrw.1_Intron	NM_134268	NP_599030	Q8WWM9	CYGB_HUMAN	Homo sapiens cytoglobin (CYGB), mRNA.	136	Globin.				response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						AATTCCTCGGCGACCACCTCC	0.647													T	74527194	C	T	74527194	3	4	4	1	0	0	0	0	1	0	0	0	4139	768	27	1	174	1	CYGB	17	74527194	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	237834	74527194	6668016	3828	5893											
SOCS3	9021	broad.mit.edu	37	chr17	76354897	76354897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccctcacactggatgcGcaggttcttggtcccagact	10	16	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:76354897G>A	uc002jvl.2	-	1	696	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	SOCS3_uc021uee.1_Missense_Mutation_p.R94C	NM_003955	NP_003946	O14543	SOCS3_HUMAN	Homo sapiens suppressor of cytokine signaling 3 (SOCS3), mRNA.	94	SH2.				JAK-STAT cascade|anti-apoptosis|interferon-gamma-mediated signaling pathway|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity	p.R94L(1)		kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			CACTGGATGCGCAGGTTCTTG	0.652													A	76354897	G	A	76354897	3	1	4	1	0	0	0	0	1	0	0	0	14915	1087	38	1	401	1	SOCS3	17	76354897	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1827703	76354897	4840313	3829	5894											
ENGASE	64772	broad.mit.edu	37	chr17	77082286	77082286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttttgccacccagtaccGgatagtggacctgctggtgg	14	11	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:77082286G>A	uc002jwv.3	+	13	2095	c.2087G>A	c.(2086-2088)cGg>cAg	p.R696Q	ENGASE_uc002jww.3_Missense_Mutation_p.R401Q	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	696						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						ACCCAGTACCGGATAGTGGAC	0.632													A	77082286	G	A	77082286	3	1	4	1	0	0	0	0	1	0	0	0	5118	1116	39	1	2141	1	ENGASE	17	77082286	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	727389	77082286	4112924	3830	5895											
CCDC40	55036	broad.mit.edu	37	chr17	78013765	78013765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggaaggggaagaggaggCtgtgtcctatggagatgctg	19	4	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:78013765C>T	uc010dht.3	+	2	279	c.248C>T	c.(247-249)gCt>gTt	p.A83V	CCDC40_uc010wub.2_Missense_Mutation_p.A83V|CCDC40_uc021uem.1_Missense_Mutation_p.A83V	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	83					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			gaagaggaggCTGTGTCCTAT	0.512													T	78013765	C	T	78013765	3	4	4	1	0	0	0	0	1	0	0	0	2812	797	28	2	258	2	CCDC40	17	78013765	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	931479	78013765	3181445	3831	5896											
CCDC40	55036	broad.mit.edu	37	chr17	78055728	78055728	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccgccaagccatccagggCgagctggagctcaggaggaa	14	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:78055728C>T	uc010dht.3	+	11	1891	c.1860C>T	c.(1858-1860)ggC>ggT	p.G620G	CCDC40_uc021uem.1_Silent_p.G620G|CCDC40_uc002jxm.4_Silent_p.G403G|CCDC40_uc002jxn.4_Silent_p.G16G	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	620					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCATCCAGGGCGAGCTGGAGC	0.582													T	78055728	C	T	78055728	2	4	4	1	0	0	0	0	0	0	0	1	2812	755	27	1		1	CCDC40	17	78055728	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	41963	78055728	3139482	3832	5897											
RNF213	57674	broad.mit.edu	37	chr17	78317021	78317021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaaaacaattcgactgatcGaccctcaggtggatgagagc	11	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:78317021G>A	uc002jyh.2	+	27	6369	c.6226G>A	c.(6226-6228)Gac>Aac	p.D2076N	RNF213_uc021uen.1_Missense_Mutation_p.D2027N	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCGACTGATCGACCCTCAGGT	0.507													A	78317021	G	A	78317021	3	1	4	1	0	0	0	0	1	0	0	0	13477	1058	37	1	6500	1	RNF213	17	78317021	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	261293	78317021	2878189	3833	5898											
RPTOR	57521	broad.mit.edu	37	chr17	78923244	78923244	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctctctccctccccagaCgatggtgccatcagggtctg	9	16	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:78923244C>T	uc002jyt.1	+	28	4071	c.3266_splice	c.e28-1	p.D1089_splice	RPTOR_uc010wug.1_Splice_Site_p.D931_splice|RPTOR_uc002jyu.1_5'UTR	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	1089					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCTCCCCAGACGATGGTGCCA	0.597													T	78923244	C	T	78923244	5	4	4	1	0	0	0	0	0	0	1	0	13665	550	19	1	3377	1	RPTOR	17	78923244	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	606223	78923244	2271966	3834	5899											
SLC25A10	1468	broad.mit.edu	37	chr17	79671731	79671731	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgtctggggctgtccctgcTgcagcagcccaggaggtgag	16	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:79671731T>A	uc010wut.2	+	2	462	c.330T>A	c.(328-330)gcT>gcA	p.A110A	SLC25A10_uc002kbh.2_Silent_p.A110A	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 (SLC25A10), nuclear gene encoding mitochondrial protein, mRNA.	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	CTGTCCCTGCTGCAGCAGCCC	0.587													A	79671731	T	A	79671731	2	1	4	1	0	0	0	0	0	0	0	1	14472	1567	55	5		5	SLC25A10	17	79671731	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	748487	79671731	1523479	3835	5900											
FASN	2194	broad.mit.edu	37	chr17	80037254	80037254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggagaggttgtagtccgcGcccaggtcctcgccgtaggc	16	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:80037254G>A	uc002kdu.3	-	41	7494	c.7377C>T	c.(7375-7377)ggC>ggT	p.G2459G	FASN_uc002kdv.1_Non-coding_Transcript	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	2459	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TGTAGTCCGCGCCCAGGTCCT	0.662													A	80037254	G	A	80037254	2	1	4	1	0	0	0	0	0	0	0	1	5683	1074	38	1		1	FASN	17	80037254	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	365523	80037254	1157956	3836	5901											
FASN	2194	broad.mit.edu	37	chr17	80038074	80038074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatatggcctccgtctcaGcctcagcctcacagcctggg	10	16	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:80038074G>A	uc002kdu.3	-	40	7205	c.7088C>T	c.(7087-7089)gCt>gTt	p.A2363V	FASN_uc002kdv.1_Non-coding_Transcript	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	2363	Thioesterase (By similarity).			A -> P (in Ref. 9; AAB35516).	energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	p.E2362K(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CTCCGTCTCAGCCTCAGCCTC	0.627													A	80038074	G	A	80038074	3	1	4	1	0	0	0	0	1	0	0	0	5683	971	34	2	459	2	FASN	17	80038074	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	820	80038074	1157136	3837	5902											
FASN	2194	broad.mit.edu	37	chr17	80040218	80040218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtccaggttcagggtgcCgctgtacttgggcttgcaga	14	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:80040218C>T	uc002kdu.3	-	34	6109	c.5992G>A	c.(5992-5994)Ggc>Agc	p.G1998S	FASN_uc002kdv.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1998	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TTCAGGGTGCCGCTGTACTTG	0.637													T	80040218	C	T	80040218	3	4	4	1	0	0	0	0	1	0	0	0	5683	652	23	1	1579	1	FASN	17	80040218	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2144	80040218	1154992	3838	5903											
NARF	26502	broad.mit.edu	37	chr17	80430461	80430461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcactatgtatttgataCgacgatagctgcggatttta	11	6	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:80430461C>T	uc010dit.3	+	4	547	c.407C>T	c.(406-408)aCg>aTg	p.T136M	NARF_uc002kff.4_Missense_Mutation_p.T77M|NARF_uc010wvo.1_Intron|NARF_uc010wvp.1_Intron|NARF_uc002kfg.4_Missense_Mutation_p.T136M|NARF_uc002kfj.4_Missense_Mutation_p.T88M	NM_031968	NP_114174	Q9UHQ1	NARF_HUMAN	Homo sapiens nuclear prelamin A recognition factor (NARF), transcript variant 2, mRNA.	136						lamin filament	lamin binding	p.T136T(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GTATTTGATACGACGATAGCT	0.448													T	80430461	C	T	80430461	3	4	4	1	0	0	0	0	1	0	0	0	10167	536	19	1	425	1	NARF	17	80430461	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	390243	80430461	764749	3839	5904											
TBCD	6904	broad.mit.edu	37	chr17	80772782	80772782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagctgggcaggagaggCctgttgctgccgtctcgact	16	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:80772782C>T	uc002kfy.1	+	12	1420	c.1290C>T	c.(1288-1290)ggC>ggT	p.G430G	TBCD_uc002kfx.1_Silent_p.G413G|TBCD_uc002kfz.3_Silent_p.G430G	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	430					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCAGGAGAGGCCTGTTGCTGC	0.632													T	80772782	C	T	80772782	2	4	4	1	0	0	0	0	0	0	0	1	15630	726	26	2		2	TBCD	17	80772782	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	342321	80772782	422428	3840	5905											
ENOSF1	55556	broad.mit.edu	37	chr18	677835	677835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaactgcagggccttcGcctgtaggagttgcttaaat	14	8	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:677835G>A	uc010dkf.3	-	11	988	c.977C>T	c.(976-978)gCg>gTg	p.A326V	ENOSF1_uc002kku.4_Missense_Mutation_p.A319V|ENOSF1_uc002kkt.4_Missense_Mutation_p.A237V|ENOSF1_uc010dke.3_Non-coding_Transcript|ENOSF1_uc002kkw.4_Missense_Mutation_p.A138V	NM_202758	NP_974487	Q7L5Y1	ENOF1_HUMAN	Homo sapiens enolase superfamily member 1 (ENOSF1), transcript variant 3, mRNA.	319					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CAGGGCCTTCGCCTGTAGGAG	0.443													A	677835	G	A	677835	3	1	4	1	0	0	0	0	1	0	0	0	5125	1087	38	1	391	1	ENOSF1	18	677835	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08		677835	77399413	3841	5906											
METTL4	64863	broad.mit.edu	37	chr18	2544238	2544238	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagagtacagggcacgctgAcaattaatttgtggtctgga	13	6	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:2544238A>G	uc002klh.4	-	7	2009	c.1229T>C	c.(1228-1230)gTc>gCc	p.V410A	METTL4_uc010dkj.3_Intron	NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	Homo sapiens methyltransferase like 4 (METTL4), mRNA.	410					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GGGCACGCTGACAATTAATTT	0.323													G	2544238	A	G	2544238	3	3	4	1	0	0	0	0	1	0	0	0	9502	275	10	3	197	3	METTL4	18	2544238	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	1866403	2544238	75533010	3842	5907											
SMCHD1	23347	broad.mit.edu	37	chr18	2724949	2724949	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggaccaaattgtgtaattCgaggtgttacagccaagggc	12	7	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:2724949C>T	uc002klm.4	+	20	2845	c.2656C>T	c.(2656-2658)Cga>Tga	p.R886*	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	886					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTGTGTAATTCGAGGTGTTAC	0.338													T	2724949	C	T	2724949	4	4	4	1	0	0	0	0	0	1	0	0	14788	876	31	1	2738	1	SMCHD1	18	2724949	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	180711	2724949	75352299	3843	5908											
LPIN2	9663	broad.mit.edu	37	chr18	2924406	2924406	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagcttacttggttattgTcccatcaatatcagaaatga	7	7	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:2924406T>C	uc002klo.3	-	14	2316	c.2077A>G	c.(2077-2079)Aca>Gca	p.T693A		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	693	C-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TTGGTTATTGTCCCATCAATA	0.517													C	2924406	T	C	2924406	3	2	4	1	0	0	0	0	1	0	0	0	8919	1667	58	3	637	3	LPIN2	18	2924406	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	199457	2924406	75152842	3844	5909											
MYL12B	103910	broad.mit.edu	37	chr18	3277382	3277382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagatgtcatcagaaacGcctttgcttgctttgatgaa	9	8	2	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:3277382G>A	uc002klt.4	+	2	456	c.316G>A	c.(316-318)Gcc>Acc	p.A106T	MYL12B_uc010dkl.3_Missense_Mutation_p.A106T|MYL12B_uc010wyv.2_Missense_Mutation_p.A106T	NM_033546	NP_291024	O14950	ML12B_HUMAN	Homo sapiens myosin, light chain 12B, regulatory (MYL12B), transcript variant 2, mRNA.	106	EF-hand 2.				axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding	p.A106V(1)		breast(1)|large_intestine(1)|lung(2)	4						CATCAGAAACGCCTTTGCTTG	0.438													A	3277382	G	A	3277382	3	1	4	1	0	0	0	0	1	0	0	0	10046	1087	38	1	322	1	MYL12B	18	3277382	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	352976	3277382	74799866	3845	5910											
ZFP161	7541	broad.mit.edu	37	chr18	5292149	5292149	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtgttttcagaaacagagTtttatgatcatcgtcattat	7	5	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:5292149T>C	uc002kmq.3	-	3	220	c.58A>G	c.(58-60)Act>Gct	p.T20A	ZFP161_uc002kmr.3_Missense_Mutation_p.T20A|ZFP161_uc010dkp.3_Missense_Mutation_p.T20A|ZFP161_uc021ugn.1_Missense_Mutation_p.T20A	NM_001243702	NP_001230631	O43829	ZF161_HUMAN	Homo sapiens zinc finger protein 161 homolog (mouse) (ZFP161), transcript variant 3, mRNA.	20					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)	22						AGAAACAGAGTTTTATGATCA	0.308													C	5292149	T	C	5292149	3	2	4	1	0	0	0	0	1	0	0	0	17637	1725	60	3	1295	3	ZFP161	18	5292149	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	2014767	5292149	72785099	3846	5911											
EPB41L3	23136	broad.mit.edu	37	chr18	5407700	5407700	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttatttttaattttctacCtgtgccttgagctctgcatc	5	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:5407700C>A	uc002kmt.1	-	15	2243	c.2157_splice	c.e15+1	p.Q719_splice	EPB41L3_uc010wzh.1_Splice_Site_p.Q550_splice|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Splice_Site_p.Q111_splice	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	719	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AATTTTCTACCTGTGCCTTGA	0.388													A	5407700	C	A	5407700	5	1	4	1	0	0	0	0	0	0	1	0	5154	695	24	5	1138	5	EPB41L3	18	5407700	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	115551	5407700	72669548	3847	5912											
TMEM200C	645369	broad.mit.edu	37	chr18	5892007	5892007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtatctggcttggggggCggagtggatcctgctttctg	18	7	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:5892007C>T	uc002kmx.1	-	0	97	c.56G>A	c.(55-57)cGc>cAc	p.R19H		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	Homo sapiens transmembrane protein 200C (TMEM200C), mRNA.	19						integral to membrane		p.R19S(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GCTTGGGGGGCGGAGTGGATC	0.602													T	5892007	C	T	5892007	3	4	4	1	0	0	0	0	1	0	0	0	16122	768	27	1	1813	1	TMEM200C	18	5892007	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	484307	5892007	72185241	3848	5913											
LAMA1	284217	broad.mit.edu	37	chr18	6964747	6964747	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagatgctcccggagtctcGccctgcttggtttctttatt	10	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:6964747G>A	uc002knm.3	-	50	7345	c.7251C>T	c.(7249-7251)ggC>ggT	p.G2417G	LAMA1_uc002knl.3_5'UTR|LAMA1_uc010wzj.2_Silent_p.G1893G	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2417	Laminin G-like 2.				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			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCGGAGTCTCGCCCTGCTTGG	0.453													A	6964747	G	A	6964747	2	1	4	1	0	0	0	0	0	0	0	1	8605	1074	38	1		1	LAMA1	18	6964747	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1072740	6964747	71112501	3849	5914											
LAMA1	284217	broad.mit.edu	37	chr18	7046313	7046313	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggcagctactagcatgGccatagcagatacacatgcc	10	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:7046313G>A	uc002knm.3	-	5	916	c.822C>T	c.(820-822)ggC>ggT	p.G274G	LAMA1_uc010wzj.2_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	274	Laminin EGF-like 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			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TACTAGCATGGCCATAGCAGA	0.323													A	7046313	G	A	7046313	2	1	4	1	0	0	0	0	0	0	0	1	8605	1190	42	2		2	LAMA1	18	7046313	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	81566	7046313	71030935	3850	5915											
PTPRM	5797	broad.mit.edu	37	chr18	8343455	8343455	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accatctatgacttctggagGatggtgtggcacgaaaacac	11	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:8343455G>A	uc002knn.4	+	20	3455	c.2952G>A	c.(2950-2952)agG>agA	p.R984R	PTPRM_uc010dkv.3_Silent_p.R997R|PTPRM_uc010wzl.2_Silent_p.R771R	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	984	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ACTTCTGGAGGATGGTGTGGC	0.458													A	8343455	G	A	8343455	2	1	4	1	0	0	0	0	0	0	0	1	12806	1165	41	4		4	PTPRM	18	8343455	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1297142	8343455	69733793	3851	5916											
TXNDC2	84203	broad.mit.edu	37	chr18	9886245	9886245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaccagaaatgaggctggGcactcaggaagaaacaagtg	12	7	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:9886245G>A	uc002koi.4	+	0	523	c.74G>A	c.(73-75)gGc>gAc	p.G25D	TXNDC2_uc002koh.4_Intron|TXNDC2_uc021ugx.1_5'Flank	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	25					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						ATGAGGCTGGGCACTCAGGAA	0.478													A	9886245	G	A	9886245	3	1	4	1	0	0	0	0	1	0	0	0	16794	1203	42	2	76	2	TXNDC2	18	9886245	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1542790	9886245	68191003	3852	5917											
MPPE1	65258	broad.mit.edu	37	chr18	11884615	11884615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagggtgtagtctgtgggCgtgatgctaccctggaaagg	18	6	1	2	rs146567173		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:11884615C>T	uc002kqf.3	-	10	1816	c.1020G>A	c.(1018-1020)acG>acA	p.T340T	MPPE1_uc002kqg.3_Non-coding_Transcript|MPPE1_uc002kqh.3_Non-coding_Transcript|MPPE1_uc002kqi.3_Non-coding_Transcript|MPPE1_uc002kqn.3_Silent_p.T277T|MPPE1_uc002kqm.3_Silent_p.T277T	NM_023075	NP_075563	Q53F39	MPPE1_HUMAN	Homo sapiens metallophosphoesterase 1 (MPPE1), transcript variant 1, mRNA.	340					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	ER-Golgi intermediate compartment membrane|cis-Golgi network|endoplasmic reticulum exit site|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						AGTCTGTGGGCGTGATGCTAC	0.532													T	11884615	C	T	11884615	2	4	4	1	0	0	0	0	0	0	0	1	9740	755	27	1		1	MPPE1	18	11884615	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1998370	11884615	66192633	3853	5918											
SPIRE1	56907	broad.mit.edu	37	chr18	12506556	12506556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgagctgatattcaatggGcaaagggttgtactgccgct	14	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:12506556G>A	uc002kre.3	-	5	939	c.892C>T	c.(892-894)Ccc>Tcc	p.P298S	SPIRE1_uc002krc.3_Non-coding_Transcript|SPIRE1_uc010wzw.2_Missense_Mutation_p.P178S|SPIRE1_uc010wzx.2_Missense_Mutation_p.P101S|SPIRE1_uc010wzy.2_Missense_Mutation_p.P298S	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	Homo sapiens spire homolog 1 (Drosophila) (SPIRE1), transcript variant 1, mRNA.	298						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TATTCAATGGGCAAAGGGTTG	0.453													A	12506556	G	A	12506556	3	1	4	1	0	0	0	0	1	0	0	0	15070	1203	42	2	1426	2	SPIRE1	18	12506556	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	621941	12506556	65570692	3854	5919											
PTPN2	5771	broad.mit.edu	37	chr18	12817195	12817195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagagaaggtgccagagCgcccaatgcctgcactacag	12	13	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:12817195C>T	uc002krp.3	-	5	859	c.665G>A	c.(664-666)cGc>cAc	p.R222H	PTPN2_uc002krn.3_Missense_Mutation_p.R245H|PTPN2_uc002krl.3_Missense_Mutation_p.R222H|PTPN2_uc002krm.3_Missense_Mutation_p.R222H	NM_002828	NP_002819	P17706	PTN2_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 2 (PTPN2), transcript variant 1, mRNA.	222	Substrate binding (By similarity).|Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding	p.G221G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				GGTGCCAGAGCGCCCAATGCC	0.428													T	12817195	C	T	12817195	3	4	4	1	0	0	0	0	1	0	0	0	12785	768	27	1	624	1	PTPN2	18	12817195	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	310639	12817195	65260053	3855	5920											
SEH1L	81929	broad.mit.edu	37	chr18	12955495	12955495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtatggcgtgtgacatggGcccatcctgaatttgggcag	14	9	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:12955495G>A	uc002krq.3	+	2	334	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	SEH1L_uc002krr.3_Missense_Mutation_p.A66T	NM_001013437	NP_001013455	Q96EE3	SEH1_HUMAN	Homo sapiens SEH1-like (S. cerevisiae) (SEH1L), transcript variant 1, mRNA.	66					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mRNA transport|mitotic metaphase plate congression|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						TGTGACATGGGCCCATCCTGA	0.418													A	12955495	G	A	12955495	3	1	4	1	0	0	0	0	1	0	0	0	14009	1203	42	2	206	2	SEH1L	18	12955495	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	138300	12955495	65121753	3856	5921											
MC5R	4161	broad.mit.edu	37	chr18	13826231	13826231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccaccacatcatgacggCgaggcgctcaggggccatca	11	15	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:13826231C>T	uc010xaf.2	+	0	689	c.467C>T	c.(466-468)gCg>gTg	p.A156V		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	156					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ATCATGACGGCGAGGCGCTCA	0.577													T	13826231	C	T	13826231	3	4	4	1	0	0	0	0	1	0	0	0	9367	768	27	1	469	1	MC5R	18	13826231	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	870736	13826231	64251017	3857	5922											
ZNF519	162655	broad.mit.edu	37	chr18	14105249	14105249	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cattctttacatttgaagtgTttctctccagtatggattct	6	8	3	1	rs144389001	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:14105249T>A	uc002kst.2	-	2	1503	c.1290A>T	c.(1288-1290)aaA>aaT	p.K430N	ZNF519_uc002ksr.2_Intron|ZNF519_uc002ksq.2_Intron	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	Homo sapiens zinc finger protein 519 (ZNF519), transcript variant 1, mRNA.	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						ATTTGAAGTGTTTCTCTCCAG	0.408													A	14105249	T	A	14105249	3	1	4	1	0	0	0	0	1	0	0	0	17961	1722	60	5	336	5	ZNF519	18	14105249	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	279018	14105249	63971999	3858	5923											
ZNF519	162655	broad.mit.edu	37	chr18	14124358	14124358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttattctcacccagggagaCgaggtttctgtagttctcca	10	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:14124358C>T	uc002kst.2	-	1	334	c.121G>A	c.(121-123)Gtc>Atc	p.V41I	ZNF519_uc002ksr.2_Intron|ZNF519_uc002ksq.2_Non-coding_Transcript	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	Homo sapiens zinc finger protein 519 (ZNF519), transcript variant 1, mRNA.	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						CCCAGGGAGACGAGGTTTCTG	0.413													T	14124358	C	T	14124358	3	4	4	1	0	0	0	0	1	0	0	0	17961	536	19	1	1509	1	ZNF519	18	14124358	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	19109	14124358	63952890	3859	5924											
ROCK1	6093	broad.mit.edu	37	chr18	18622132	18622132	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaggaaaggtaagtgaAtttttatggttcataatttt	8	3	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:18622132A>T	uc002kte.3	-	7	1826	c.885T>A	c.(883-885)aaT>aaA	p.N295K		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	295	Protein kinase.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AGGTAAGTGAATTTTTATGGT	0.299													T	18622132	A	T	18622132	3	4	4	1	0	0	0	0	1	0	0	0	13517	98	4	5	3283	5	ROCK1	18	18622132	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	4497774	18622132	59455116	3860	5925											
SNRPD1	6632	broad.mit.edu	37	chr18	19209061	19209061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaggaagaggaagaggaCgtggccgtggcagaggaaga	20	4	0	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:19209061C>T	uc002ktj.1	+	3	453	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C		NM_006938	NP_008869	P62314	SMD1_HUMAN	Homo sapiens small nuclear ribonucleoprotein D1 polypeptide 16kDa (SNRPD1), mRNA.	108	Arg/Lys-rich (basic).				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex	RNA binding|protein binding			lung(2)|prostate(1)	3						aggaagaggacgtggccgtgg	0.448													T	19209061	C	T	19209061	3	4	4	1	0	0	0	0	1	0	0	0	14864	536	19	1	336	1	SNRPD1	18	19209061	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	586929	19209061	58868187	3861	5926											
NPC1	4864	broad.mit.edu	37	chr18	21140277	21140277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacatgatgacatacatggCgtccaagccaaggatcgtcc	9	13	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:21140277C>T	uc002kum.4	-	5	1073	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	NPC1_uc010xaz.2_Missense_Mutation_p.A51T|NPC1_uc010xba.1_Missense_Mutation_p.A112T	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	267					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACATACATGGCGTCCAAGCCA	0.517													T	21140277	C	T	21140277	3	4	4	1	0	0	0	0	1	0	0	0	10570	768	27	1	3117	1	NPC1	18	21140277	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1931216	21140277	56936971	3862	5927											
HRH4	59340	broad.mit.edu	37	chr18	22048786	22048786	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgtacatccctcacacGctgttcgaatgggattttgg	9	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:22048786G>A	uc002kvi.3	+	1	328	c.228G>A	c.(226-228)acG>acA	p.T76T	HRH4_uc010xbd.2_Intron|HRH4_uc010dlx.3_Intron	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	Homo sapiens histamine receptor H4 (HRH4), transcript variant 1, mRNA.	76						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TCCCTCACACGCTGTTCGAAT	0.393													A	22048786	G	A	22048786	2	1	4	1	0	0	0	0	0	0	0	1	7358	1074	38	1		1	HRH4	18	22048786	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	908509	22048786	56028462	3863	5928											
CHST9	83539	broad.mit.edu	37	chr18	24497286	24497286	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattttcctttttttctcgtAcatcctcaggcatgtgaaac	6	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:24497286A>G	uc002kwd.3	-	4	498	c.269T>C	c.(268-270)gTa>gCa	p.V90A	CHST9-AS1_uc002kwb.2_Intron|CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Missense_Mutation_p.V90A|CHST9_uc021uij.1_Missense_Mutation_p.V5A	NM_001243848	NP_001230777	Q7L1S5	CHST9_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA.	90					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|extracellular region|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TTTTTCTCGTACATCCTCAGG	0.398													G	24497286	A	G	24497286	3	3	4	1	0	0	0	0	1	0	0	0	3411	391	14	3	1066	3	CHST9	18	24497286	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	2448500	24497286	53579962	3864	5929											
DSC2	1824	broad.mit.edu	37	chr18	28662238	28662238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactccttcattggttttgGcatctgttacaattttaaaa	6	7	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:28662238G>A	uc002kwl.4	-	8	1683	c.1229C>T	c.(1228-1230)gCc>gTc	p.A410V	DSC2_uc002kwk.4_Missense_Mutation_p.A410V	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	410	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATTGGTTTTGGCATCTGTTAC	0.299													A	28662238	G	A	28662238	3	1	4	1	0	0	0	0	1	0	0	0	4766	1203	42	2	1548	2	DSC2	18	28662238	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4164952	28662238	49415010	3865	5930											
DSC2	1824	broad.mit.edu	37	chr18	28671070	28671070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcccatcttctcttggcgCgccttagaactttttcttta	7	12	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:28671070C>T	uc002kwl.4	-	3	849	c.395G>A	c.(394-396)cGc>cAc	p.R132H	DSC2_uc002kwk.4_Missense_Mutation_p.R132H	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	132					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCTCTTGGCGCGCCTTAGAAC	0.368													T	28671070	C	T	28671070	3	4	4	1	0	0	0	0	1	0	0	0	4766	768	27	1	2402	1	DSC2	18	28671070	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	8832	28671070	49406178	3866	5931											
DSC1	1823	broad.mit.edu	37	chr18	28714691	28714691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttgtcaatttgaggtgCgtgatcgttgtaatcatcca	9	7	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:28714691C>T	uc002kwn.3	-	11	1982	c.1720G>A	c.(1720-1722)Gca>Aca	p.A574T	DSC1_uc002kwm.3_Missense_Mutation_p.A574T	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	574	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.A574S(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ATTTGAGGTGCGTGATCGTTG	0.368													T	28714691	C	T	28714691	3	4	4	1	0	0	0	0	1	0	0	0	4765	768	27	1	1024	1	DSC1	18	28714691	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	43621	28714691	49362557	3867	5932											
DSG3	1830	broad.mit.edu	37	chr18	29049154	29049154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatcggtgtgagatgccacGcagcttgacactggaagtct	12	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:29049154G>A	uc002kws.3	+	11	1848	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	580					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAGATGCCACGCAGCTTGACA	0.552													A	29049154	G	A	29049154	3	1	4	1	0	0	0	0	1	0	0	0	4778	1087	38	1	1785	1	DSG3	18	29049154	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	334463	29049154	49028094	3868	5933											
DSG2	1829	broad.mit.edu	37	chr18	29125953	29125953	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtatgaacacagcttcacaTtcactctgtgagcaaactat	6	10	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:29125953T>C	uc002kwu.4	+	14	2792	c.2604T>C	c.(2602-2604)caT>caC	p.H868H	LOC100652770_uc002kwv.4_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	868					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CAGCTTCACATTCACTCTGTG	0.403													C	29125953	T	C	29125953	2	2	4	1	0	0	0	0	0	0	0	1	4777	1490	52	3		3	DSG2	18	29125953	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	76799	29125953	48951295	3869	5934											
KLHL14	57565	broad.mit.edu	37	chr18	30321990	30321990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccctccaaccaataacaGcattttcttgttagagcgaa	6	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:30321990G>A	uc002kxm.1	-	2	1358	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	324						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ACCAATAACAGCATTTTCTTG	0.428													A	30321990	G	A	30321990	2	1	4	1	0	0	0	0	0	0	0	1	8370	962	34	2		2	KLHL14	18	30321990	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1196037	30321990	47755258	3870	5935											
NOL4	8715	broad.mit.edu	37	chr18	31709979	31709979	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttctcatctacccctacGccatcctggaaacaaaacaa	4	15	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:31709979G>A	uc010dmi.3	-	1	568	c.270C>T	c.(268-270)ggC>ggT	p.G90G	NOL4_uc002kxr.4_5'UTR|NOL4_uc010xbt.2_Silent_p.G16G|NOL4_uc010dmh.3_Silent_p.G16G|NOL4_uc010xbu.2_Silent_p.G90G|NOL4_uc002kxt.4_Silent_p.G90G	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	90						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTACCCCTACGCCATCCTGGA	0.348													A	31709979	G	A	31709979	2	1	4	1	0	0	0	0	0	0	0	1	10524	1074	38	1		1	NOL4	18	31709979	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1387989	31709979	46367269	3871	5936											
GALNT1	2589	broad.mit.edu	37	chr18	33263470	33263470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattaaaaggagctgctgtGtctaaaggccaagtgatcac	11	7	2	2	rs144666262		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:33263470G>A	uc010dmu.3	+	4	650	c.597G>A	c.(595-597)gtG>gtA	p.V199V	GALNT1_uc002kyz.4_Silent_p.V139V|GALNT1_uc002kzb.3_Silent_p.V199V	NM_020474	NP_065207	Q10472	GALT1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA.	199	Catalytic subdomain A.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GAGCTGCTGTGTCTAAAGGCC	0.428													A	33263470	G	A	33263470	2	1	4	1	0	0	0	0	0	0	0	1	6207	1364	48	4		4	GALNT1	18	33263470	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1553491	33263470	44813778	3872	5937											
MOCOS	55034	broad.mit.edu	37	chr18	33785068	33785068	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaatataaagcagcacacCttcaccttggctcagtatac	7	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:33785068C>A	uc002kzq.4	+	5	1070	c.1047C>A	c.(1045-1047)acC>acA	p.T349T		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA.	349					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	AGCAGCACACCTTCACCTTGG	0.438													A	33785068	C	A	33785068	2	1	4	1	0	0	0	0	0	0	0	1	9689	668	24	5		5	MOCOS	18	33785068	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	521598	33785068	44292180	3873	5938											
MOCOS	55034	broad.mit.edu	37	chr18	33846728	33846728	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggttttggggccttgtcAcagatgccagatgatttgca	12	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:33846728A>G	uc002kzq.4	+	13	2449	c.2426A>G	c.(2425-2427)cAc>cGc	p.H809R		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA.	809	MOSC.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding	p.C808C(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GGGCCTTGTCACAGATGCCAG	0.483													G	33846728	A	G	33846728	3	3	4	1	0	0	0	0	1	0	0	0	9689	159	6	3	2480	3	MOCOS	18	33846728	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	61660	33846728	44230520	3874	5939											
FHOD3	80206	broad.mit.edu	37	chr18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-													gcgatgagaccacggagccaCcccccagtgggtgccgggac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:34205516delC	uc002kzt.1	+	10	1097	c.1000delC	c.(1000-1002)CCCfs	p.P334fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P334fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P334fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P159fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P87fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	334	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACGGAGCCACCCCCCAGTGG	0.677													-	34205516	C	-	34205516	7	5	4	1	0	1	0	1	0	0	0	0	5883	507	18	0	1038	0	FHOD3	18	34205516	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	358788	34205516	43871732	3875	5940											
FHOD3	80206	broad.mit.edu	37	chr18	34310720	34310720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaaggacgattaagatcGccattttgaattttgatgag	9	7	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:34310720G>A	uc021uiv.1	+	19	3626	c.3529G>A	c.(3529-3531)Gcc>Acc	p.A1177T	FHOD3_uc002kzs.1_Missense_Mutation_p.A1002T|FHOD3_uc002kzt.1_Missense_Mutation_p.A985T|FHOD3_uc010dmz.1_Missense_Mutation_p.A717T|FHOD3_uc010dnb.1_5'UTR	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	985	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GATTAAGATCGCCATTTTGAA	0.398													A	34310720	G	A	34310720	3	1	4	1	0	0	0	0	1	0	0	0	5883	1087	38	1	3070	1	FHOD3	18	34310720	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	105204	34310720	43766528	3876	5941											
FHOD3	80206	broad.mit.edu	37	chr18	34349305	34349305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgatgagatcatggacCgcatcgtcaagtcagccacc	10	13	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:34349305C>T	uc021uiv.1	+	27	4799	c.4702C>T	c.(4702-4704)Cgc>Tgc	p.R1568C	FHOD3_uc002kzs.1_Missense_Mutation_p.R1385C|FHOD3_uc002kzt.1_Missense_Mutation_p.R1368C|FHOD3_uc010dmz.1_Missense_Mutation_p.R1100C|FHOD3_uc010dnb.1_Silent_p.T305T	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	1368					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GATCATGGACCGCATCGTCAA	0.522													T	34349305	C	T	34349305	3	4	4	1	0	0	0	0	1	0	0	0	5883	652	23	1	4247	1	FHOD3	18	34349305	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	38585	34349305	43727943	3877	5942											
KIAA1328	57536	broad.mit.edu	37	chr18	34752963	34752963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaggagttagaaaagatgCgtctacatctcctatgccaa	9	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:34752963C>T	uc002kzz.3	+	8	1464	c.1442C>T	c.(1441-1443)gCg>gTg	p.A481V	KIAA1328_uc002lab.3_Missense_Mutation_p.A233V|KIAA1328_uc002lac.1_Missense_Mutation_p.A340V	NM_020776	NP_065827	Q86T90	K1328_HUMAN	Homo sapiens KIAA1328 (KIAA1328), mRNA.	481										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		AGAAAAGATGCGTCTACATCT	0.388													T	34752963	C	T	34752963	3	4	4	1	0	0	0	0	1	0	0	0	8225	768	27	1	1476	1	KIAA1328	18	34752963	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	403658	34752963	43324285	3878	5943											
CELF4	56853	broad.mit.edu	37	chr18	34854311	34854311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtaggccccgaaagggatgGccatggggttgaacatgccc	15	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:34854311G>A	uc002lae.2	-	5	1160	c.764C>T	c.(763-765)gCc>gTc	p.A255V	CELF4_uc021uix.1_Missense_Mutation_p.A254V|CELF4_uc021uiy.1_Missense_Mutation_p.A255V|CELF4_uc002lag.2_Missense_Mutation_p.A245V|CELF4_uc002laf.2_Missense_Mutation_p.A250V|CELF4_uc002lai.2_Missense_Mutation_p.A240V|CELF4_uc002lah.2_5'Flank|CELF4_uc002laj.1_Silent_p.G90G	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	255	Necessary for TNNT2 exon 5 inclusion.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GAAAGGGATGGCCATGGGGTT	0.642													A	34854311	G	A	34854311	3	1	4	1	0	0	0	0	1	0	0	0	3218	1203	42	2	724	2	CELF4	18	34854311	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	101348	34854311	43222937	3879	5944											
PIK3C3	5289	broad.mit.edu	37	chr18	39575890	39575890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaacaccacaagcttgccCggagtttaagaagtggacct	10	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:39575890C>T	uc002lap.3	+	7	881	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	PIK3C3_uc010xcl.2_Missense_Mutation_p.R212W	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 3 (PIK3C3), mRNA.	275					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	p.R275R(2)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						CAAGCTTGCCCGGAGTTTAAG	0.333										TSP Lung(28;0.18)			T	39575890	C	T	39575890	3	4	4	1	0	0	0	0	1	0	0	0	11912	643	23	1	853	1	PIK3C3	18	39575890	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4721579	39575890	38501358	3880	5945											
SETBP1	26040	broad.mit.edu	37	chr18	42281686	42281686	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttggagaactatatatgTccacctgagatcaagatcac	7	8	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:42281686T>C	uc010dni.3	+	1	671	c.375T>C	c.(373-375)tgT>tgC	p.C125C	SETBP1_uc002lay.3_Silent_p.C125C	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	125						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACTATATATGTCCACCTGAGA	0.468									Schinzel-Giedion syndrome				C	42281686	T	C	42281686	2	2	4	1	0	0	0	0	0	0	0	1	14129	1673	58	3		3	SETBP1	18	42281686	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	2705796	42281686	35795562	3881	5946											
SETBP1	26040	broad.mit.edu	37	chr18	42531132	42531132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggaacttccaccagcccCgtcagtcccatcagccgaga	10	16	2	1	rs140403091		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:42531132C>T	uc010dni.3	+	3	2123	c.1827C>T	c.(1825-1827)ccC>ccT	p.P609P		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	609						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCACCAGCCCCGTCAGTCCCA	0.532									Schinzel-Giedion syndrome				T	42531132	C	T	42531132	2	4	4	1	0	0	0	0	0	0	0	1	14129	639	23	1		1	SETBP1	18	42531132	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	249446	42531132	35546116	3882	5947											
SLC14A2	8170	broad.mit.edu	37	chr18	43204637	43204637	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgacccgaaggaatgtctgAcccccacagcagtcctctcc	9	16	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:43204637A>G	uc002lbe.3	+	1	824	c.8A>G	c.(7-9)gAc>gGc	p.D3G	SLC14A2_uc002lbb.3_Missense_Mutation_p.D3G|SLC14A2_uc010dnj.3_Missense_Mutation_p.D3G	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	3						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGAATGTCTGACCCCCACAGC	0.577													G	43204637	A	G	43204637	3	3	4	1	0	0	0	0	1	0	0	0	14397	275	10	3	10	3	SLC14A2	18	43204637	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	673505	43204637	34872611	3883	5948											
SLC14A1	6563	broad.mit.edu	37	chr18	43310355	43310355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgaaaaccaggtttcgCcatgtcaagggagaaggtgc	16	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:43310355C>T	uc010dnk.3	+	3	460	c.238C>T	c.(238-240)Cca>Tca	p.P80S	SLC14A1_uc002lbi.4_Intron|SLC14A1_uc010xcn.2_Missense_Mutation_p.P24S|SLC14A1_uc002lbf.4_Missense_Mutation_p.P24S|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Intron|SLC14A1_uc002lbh.4_Intron|SLC14A1_uc002lbj.4_Missense_Mutation_p.P80S|SLC14A1_uc002lbk.4_Missense_Mutation_p.P24S|SLC14A1_uc021ujg.1_Missense_Mutation_p.P24S	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	24						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCAGGTTTCGCCATGTCAAGG	0.498													T	43310355	C	T	43310355	3	4	4	1	0	0	0	0	1	0	0	0	14396	739	26	2	244	2	SLC14A1	18	43310355	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	105718	43310355	34766893	3884	5949											
PSTPIP2	9050	broad.mit.edu	37	chr18	43595906	43595906	+	Splice_Site	DEL	A	A	-													agggcccgcttcagggtgctAaaaaaaacaagcacatatat							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:43595905_43595905TA>T	uc002lbp.4	-	4	309	c.213_splice	c.e4-1	p.N71_splice	PSTPIP2_uc002lbq.4_Splice_Site_p.N71_splice	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	71	FCH.					membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TTCAGGGTGCTAAAAAAAACA	0.383													-	43595906	A	-	43595906	8	5	4	1	0	1	0	1	0	0	1	0	12722	377	13	0		0	PSTPIP2	18	43595906	Splice_Site	DEL	A	TCGA-BR-4184-01A-01D-1126-08	285551	43595906	34481342	3885	5950											
KATNAL2	83473	broad.mit.edu	37	chr18	44579417	44579417	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaaagtcatcagacacaGgtacatgcctattttctaga	6	9	4	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:44579417G>T	uc002lco.3	+	2	267	c.73_splice	c.e2+1	p.A25_splice	KATNAL2_uc010dnq.1_Intron	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA.	97	LisH.					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						ATCAGACACAGGTACATGCCT	0.348													T	44579417	G	T	44579417	5	4	4	1	0	0	0	0	0	0	1	0	7986	1014	35	5	75	5	KATNAL2	18	44579417	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	983511	44579417	33497831	3886	5951											
KIAA0427	9811	broad.mit.edu	37	chr18	46163043	46163043	+	Frame_Shift_Del	DEL	C	C	-													ttccttctcccgagggcgagCccccccacagcaggtaggga							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:46163043delC	uc002ldc.2	+	3	524	c.239delC	c.(238-240)GCCfs	p.A80fs	KIAA0427_uc002ldd.2_Frame_Shift_Del_p.A80fs	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	80	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						CGAGGGCGAGCCCCCCCACAG	0.642													-	46163043	C	-	46163043	7	5	4	1	0	1	0	1	0	0	0	0	8176	739	26	0	245	0	KIAA0427	18	46163043	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	1583626	46163043	31914205	3887	5952											
ACAA2	10449	broad.mit.edu	37	chr18	47329200	47329200	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaagctccaaagggcgttcGcttagcagcaactacaaaca	9	11	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:47329200G>A	uc002ldw.4	-	1	437	c.40C>T	c.(40-42)Cga>Tga	p.R14*		NM_006111	NP_006102	P42765	THIM_HUMAN	Homo sapiens acetyl-CoA acyltransferase 2 (ACAA2), nuclear gene encoding mitochondrial protein, mRNA.	14					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						AAGGGCGTTCGCTTAGCAGCA	0.453													A	47329200	G	A	47329200	4	1	4	1	0	0	0	0	0	1	0	0	105	1095	38	1	1189	1	ACAA2	18	47329200	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1166157	47329200	30748048	3888	5953											
MYO5B	4645	broad.mit.edu	37	chr18	47566549	47566549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggttggactccaggaaacGgaccttcaaattatgcaaaa	9	8	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:47566549G>A	uc002leb.2	-	2	562	c.274C>T	c.(274-276)Cgt>Tgt	p.R92C	MYO5B_uc021ukb.1_Missense_Mutation_p.R91C	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	92	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCCAGGAAACGGACCTTCAAA	0.478													A	47566549	G	A	47566549	3	1	4	1	0	0	0	0	1	0	0	0	10079	1116	39	1	5424	1	MYO5B	18	47566549	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	237349	47566549	30510699	3889	5954											
ME2	4200	broad.mit.edu	37	chr18	48458685	48458685	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgaaacttacagatgggCgagtctttacaccaggtcaa	10	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:48458685C>T	uc002ley.3	+	12	1631	c.1372C>T	c.(1372-1374)Cga>Tga	p.R458*	ME2_uc010dpd.3_Nonsense_Mutation_p.R458*	NM_002396	NP_002387	P23368	MAOM_HUMAN	Homo sapiens malic enzyme 2, NAD(+)-dependent, mitochondrial (ME2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	458					malate metabolic process	mitochondrial matrix	NAD binding|electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	TACAGATGGGCGAGTCTTTAC	0.343													T	48458685	C	T	48458685	4	4	4	1	0	0	0	0	0	1	0	0	9418	760	27	1	1418	1	ME2	18	48458685	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	892136	48458685	29618563	3890	5955											
SMAD4	4089	broad.mit.edu	37	chr18	48593465	48593465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtgccttagtgaccacGcggtctttgtacagagttac	11	10	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:48593465G>A	uc010xdp.2	+	9	1754	c.1216G>A	c.(1216-1218)Gcg>Acg	p.A406T	SMAD4_uc002lfb.4_Missense_Mutation_p.A251T	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	406	MH2.				BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.A406T(4)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TAGTGACCACGCGGTCTTTGT	0.433													A	48593465	G	A	48593465	3	1	4	1	0	0	0	0	1	0	0	0	14760	1087	38	1	1250	1	SMAD4	18	48593465	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	134780	48593465	29483783	3891	5956											
MEX3C	51320	broad.mit.edu	37	chr18	48702779	48702779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaactggacatgatggcGttctcttttcacagatcttg	10	9	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:48702779G>A	uc002lfc.4	-	1	2283	c.1922C>T	c.(1921-1923)aCg>aTg	p.T641M		NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN	Homo sapiens mex-3 homolog C (C. elegans) (MEX3C), mRNA.	641						cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		ACATGATGGCGTTCTCTTTTC	0.403													A	48702779	G	A	48702779	3	1	4	1	0	0	0	0	1	0	0	0	9511	1145	40	1	61	1	MEX3C	18	48702779	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	109314	48702779	29374469	3892	5957											
DCC	1630	broad.mit.edu	37	chr18	50923715	50923715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaagttacacagcaacagGcctcaaaccaaacacaatgt	5	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:50923715G>A	uc002lfe.2	+	17	3342	c.2726G>A	c.(2725-2727)gGc>gAc	p.G909D	DCC_uc010xdr.1_Missense_Mutation_p.G737D|DCC_uc010dpf.2_Missense_Mutation_p.G544D	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	909	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACAGCAACAGGCCTCAAACCA	0.388													A	50923715	G	A	50923715	3	1	4	1	0	0	0	0	1	0	0	0	4282	1203	42	2	2796	2	DCC	18	50923715	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2220936	50923715	27153533	3893	5958											
MBD2	8932	broad.mit.edu	37	chr18	51691025	51691025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttgtgtgcaaagcactgGcaacagcagataaaagggtc	12	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:51691025G>A	uc002lfg.2	-	4	1206	c.977C>T	c.(976-978)gCc>gTc	p.A326V		NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN	Homo sapiens methyl-CpG binding domain protein 2 (MBD2), transcript variant 1, mRNA.	326					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	CAAAGCACTGGCAACAGCAGA	0.483													A	51691025	G	A	51691025	3	1	4	1	0	0	0	0	1	0	0	0	9343	1203	42	2	266	2	MBD2	18	51691025	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	767310	51691025	26386223	3894	5959											
C18orf26	284254	broad.mit.edu	37	chr18	52262274	52262274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaacttaactggggtctgCgtgaacccaggaatccttgc	10	13	1	1	rs139420428	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:52262274C>T	uc002lfq.1	+	1	286	c.240C>T	c.(238-240)tgC>tgT	p.C80C		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	80						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		CTGGGGTCTGCGTGAACCCAG	0.448													T	52262274	C	T	52262274	2	4	4	1	0	0	0	0	0	0	0	1	1900	776	27	1		1	C18orf26	18	52262274	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	571249	52262274	25814974	3895	5960											
CCDC68	80323	broad.mit.edu	37	chr18	52609944	52609944	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcaataatgtgagcggAcgtagactcatacaaggcag	10	8	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:52609944A>G	uc002lfs.3	-	2	251	c.79T>C	c.(79-81)Tcc>Ccc	p.S27P	CCDC68_uc002lft.3_Missense_Mutation_p.S27P	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	27										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		ATGTGAGCGGACGTAGACTCA	0.378													G	52609944	A	G	52609944	3	3	4	1	0	0	0	0	1	0	0	0	2840	275	10	3	968	3	CCDC68	18	52609944	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	347670	52609944	25467304	3896	5961											
TCF4	6925	broad.mit.edu	37	chr18	52946880	52946880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcagtgcttgctgatggaGcatagacctgaggagaaaga	15	7	0	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:52946880G>A	uc002lga.3	-	9	923	c.863C>T	c.(862-864)gCt>gTt	p.A288V	TCF4_uc021ukg.1_Missense_Mutation_p.A26V|TCF4_uc021ukh.1_Missense_Mutation_p.A26V|TCF4_uc002lfw.4_Missense_Mutation_p.A26V|TCF4_uc010xdu.1_Missense_Mutation_p.A56V|TCF4_uc010xdv.1_Missense_Mutation_p.A56V|TCF4_uc021uki.1_Missense_Mutation_p.A115V|TCF4_uc002lfx.2_Missense_Mutation_p.A115V|TCF4_uc010xdw.1_Missense_Mutation_p.A56V|TCF4_uc002lfy.2_Missense_Mutation_p.A144V|TCF4_uc010xdx.1_Missense_Mutation_p.A162V|TCF4_uc021ukj.1_Missense_Mutation_p.A126V|TCF4_uc021ukk.1_Missense_Mutation_p.A126V|TCF4_uc021ukl.1_Missense_Mutation_p.A184V|TCF4_uc002lfz.2_Missense_Mutation_p.A186V|TCF4_uc010dph.1_Missense_Mutation_p.A186V|TCF4_uc010dpi.3_Missense_Mutation_p.A192V|TCF4_uc010xdy.1_Missense_Mutation_p.A162V|TCF4_uc002lgc.4_Missense_Mutation_p.A107V|TCF4_uc021ukm.1_Missense_Mutation_p.L71F	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	186					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TGCTGATGGAGCATAGACCTG	0.483													A	52946880	G	A	52946880	3	1	4	1	0	0	0	0	1	0	0	0	15692	971	34	2	1502	2	TCF4	18	52946880	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	336936	52946880	25130368	3897	5962											
ST8SIA3	51046	broad.mit.edu	37	chr18	55020138	55020138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggtcatgctcagcgtcGccctgctgattttatcgctc	11	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:55020138G>A	uc002lgn.3	+	0	418	c.61G>A	c.(61-63)Gcc>Acc	p.A21T		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	21					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GCTCAGCGTCGCCCTGCTGAT	0.592													A	55020138	G	A	55020138	3	1	4	1	0	0	0	0	1	0	0	0	15232	1087	38	1	63	1	ST8SIA3	18	55020138	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2073258	55020138	23057110	3898	5963											
FECH	2235	broad.mit.edu	37	chr18	55218072	55218072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgaatgcaccaagtcggCcagggcctggaagatagaca	14	9	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:55218072C>T	uc002lgq.4	-	10	1261	c.1144G>A	c.(1144-1146)Gcc>Acc	p.A382T	FECH_uc002lgp.4_Missense_Mutation_p.A388T|FECH_uc002lgr.4_Missense_Mutation_p.A240T	NM_000140	NP_000131	P22830	HEMH_HUMAN	Homo sapiens ferrochelatase (FECH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	382					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				ACCAAGTCGGCCAGGGCCTGG	0.582													T	55218072	C	T	55218072	3	4	4	1	0	0	0	0	1	0	0	0	5808	739	26	2	131	2	FECH	18	55218072	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	197934	55218072	22859176	3899	5964											
ALPK2	115701	broad.mit.edu	37	chr18	56205101	56205101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggaagcaacagagacaGccacaggctccctgaagtca	12	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:56205101G>A	uc002lhj.4	-	4	2532	c.2318C>T	c.(2317-2319)gCt>gTt	p.A773V	ALPK2_uc002lhk.1_Missense_Mutation_p.A104V	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	773							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AACAGAGACAGCCACAGGCTC	0.537													A	56205101	G	A	56205101	3	1	4	1	0	0	0	0	1	0	0	0	545	971	34	2	4230	2	ALPK2	18	56205101	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	987029	56205101	21872147	3900	5965											
MALT1	10892	broad.mit.edu	37	chr18	56412961	56412961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaactggcagctacttgGtatcaaaggatcttcccaag	9	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:56412961G>A	uc002lhm.1	+	15	2233	c.1975G>A	c.(1975-1977)Gta>Ata	p.V659I	MALT1_uc002lhn.1_Missense_Mutation_p.V648I	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	659					T cell receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|protein oligomerization|proteolysis	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CAGCTACTTGGTATCAAAGGA	0.348			T	BIRC3	MALT								A	56412961	G	A	56412961	3	1	4	1	0	0	0	0	1	0	0	0	9202	1261	44	4	2037	4	MALT1	18	56412961	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	207860	56412961	21664287	3901	5966											
ZNF532	55205	broad.mit.edu	37	chr18	56587202	56587202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataatcaatgcagcagcctcGcaaccccccaaaaaggtgtc	7	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:56587202G>A	uc010xeg.2	+	2	1880	c.1683G>A	c.(1681-1683)tcG>tcA	p.S561S	ZNF532_uc002lhp.3_Silent_p.S559S|ZNF532_uc002lho.3_Silent_p.S561S|ZNF532_uc002lhr.3_Silent_p.S559S|ZNF532_uc002lhs.3_Silent_p.S559S	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAGCAGCCTCGCAACCCCCCA	0.532													A	56587202	G	A	56587202	2	1	4	1	0	0	0	0	0	0	0	1	17969	1074	38	1		1	ZNF532	18	56587202	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	174241	56587202	21490046	3902	5967											
ZNF532	55205	broad.mit.edu	37	chr18	56587462	56587462	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catcgaagtaacgtgcaaccAttgtacaaagaacctcgttt	7	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:56587462A>T	uc010xeg.2	+	2	2140	c.1943A>T	c.(1942-1944)cAt>cTt	p.H648L	ZNF532_uc002lhp.3_Missense_Mutation_p.H646L|ZNF532_uc002lho.3_Missense_Mutation_p.H648L|ZNF532_uc002lhr.3_Missense_Mutation_p.H646L|ZNF532_uc002lhs.3_Missense_Mutation_p.H646L	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						ACGTGCAACCATTGTACAAAG	0.498													T	56587462	A	T	56587462	3	4	4	1	0	0	0	0	1	0	0	0	17969	217	8	5	1945	5	ZNF532	18	56587462	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	260	56587462	21489786	3903	5968											
MC4R	4160	broad.mit.edu	37	chr18	58038852	58038852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggatggtcaaggtaatcGctcccttcatattggcacct	9	11	3	0	rs13447335		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:58038852G>A	uc002lie.1	-	0	1150	c.731C>T	c.(730-732)gCg>gTg	p.A244V		NM_005912	NP_005903	P32245	MC4R_HUMAN	Homo sapiens melanocortin 4 receptor (MC4R), mRNA.	244					G-protein signaling, coupled to cAMP nucleotide second messenger|feeding behavior|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				CAAGGTAATCGCTCCCTTCAT	0.498													A	58038852	G	A	58038852	3	1	4	1	0	0	0	0	1	0	0	0	9366	1087	38	1	271	1	MC4R	18	58038852	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1451390	58038852	20038396	3904	5969											
CDH20	28316	broad.mit.edu	37	chr18	59195390	59195390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtgcctgaggatgtggCgattggaacaaccatacaga	15	7	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:59195390C>T	uc010dps.1	+	5	1360	c.1208C>T	c.(1207-1209)gCg>gTg	p.A403V	CDH20_uc002lif.2_Missense_Mutation_p.A397V	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	403	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAGGATGTGGCGATTGGAACA	0.473													T	59195390	C	T	59195390	3	4	4	1	0	0	0	0	1	0	0	0	3106	768	27	1	1230	1	CDH20	18	59195390	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1156538	59195390	18881858	3905	5970											
CDH20	28316	broad.mit.edu	37	chr18	59221532	59221532	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctacgacgacgagggcggCggcgaggaggacaccgaggc	19	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:59221532C>T	uc010dps.1	+	10	2162	c.2010C>T	c.(2008-2010)ggC>ggT	p.G670G	CDH20_uc002lif.2_Silent_p.G664G	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	670					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G670G(2)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACGAGGGCGGCGGCGAGGAGG	0.652													T	59221532	C	T	59221532	2	4	4	1	0	0	0	0	0	0	0	1	3106	755	27	1		1	CDH20	18	59221532	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	26142	59221532	18855716	3906	5971											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60036437	60036437	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaaagaggtggacagtggCcattgcccgcactgggcagc	14	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:60036437C>T	uc002lin.3	+	8	1325	c.1287C>T	c.(1285-1287)ggC>ggT	p.G429G	TNFRSF11A_uc010dpv.3_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	429					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of fever generation by positive regulation of prostaglandin secretion|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TGGACAGTGGCCATTGCCCGC	0.597													T	60036437	C	T	60036437	2	4	4	1	0	0	0	0	0	0	0	1	16281	726	26	2		2	TNFRSF11A	18	60036437	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	814905	60036437	18040811	3907	5972											
ZCCHC2	54877	broad.mit.edu	37	chr18	60242530	60242530	+	Frame_Shift_Del	DEL	T	T	-													agcaatggaaaccaacttccTttttttctgcctcagactcc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:60242530delT	uc002lip.3	+	13	3216	c.3216delT	c.(3214-3216)CCTfs	p.P1072fs	ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Frame_Shift_Del_p.P542fs	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1072					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			lung(1)|prostate(1)	2						ACCAACTTCCTTTTTTTCTGC	0.488													-	60242530	T	-	60242530	7	5	4	1	0	1	0	1	0	0	0	0	17584	1596	56	0	3266	0	ZCCHC2	18	60242530	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	206093	60242530	17834718	3908	5973											
SERPINB12	89777	broad.mit.edu	37	chr18	61225704	61225704	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcagaaaaaaacgacagaGcctctggatcagcaggtgaa	13	8	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:61225704G>T	uc010xeo.2	+	1	288	c.288G>T	c.(286-288)gaG>gaT	p.E96D	SERPINB12_uc010xen.2_Intron	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	81					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AAACGACAGAGCCTCTGGATC	0.443													T	61225704	G	T	61225704	3	4	4	1	0	0	0	0	1	0	0	0	14099	986	34	5		5	SERPINB12	18	61225704	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	983174	61225704	16851544	3909	5974											
SERPINB2	5055	broad.mit.edu	37	chr18	61569049	61569049	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgaatgctgtctactTcaaaggaaagtggaaaactc	10	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:61569049T>G	uc010xeu.2	+	6	944	c.611T>G	c.(610-612)tTc>tGc	p.F204C	SERPINB2_uc002ljo.3_Missense_Mutation_p.F204C|SERPINB2_uc002ljp.1_Missense_Mutation_p.F9C|SERPINB2_uc002ljq.1_Missense_Mutation_p.F9C	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	204					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCTGTCTACTTCAAAGGAAAG	0.383													G	61569049	T	G	61569049	3	3	4	1	0	0	0	0	1	0	0	0	14101	1783	62	5	629	5	SERPINB2	18	61569049	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	343345	61569049	16508199	3910	5975											
CDH7	1005	broad.mit.edu	37	chr18	63477140	63477140	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacccgtggagcccgagtcGgagtttgtcatcaaaattca	10	10	3	0	rs140174290		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:63477140G>A	uc002lkb.3	+	2	837	c.411G>A	c.(409-411)tcG>tcA	p.S137S	CDH7_uc002ljz.3_Silent_p.S137S|CDH7_uc002lka.3_Silent_p.S137S	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	137	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E136G(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGCCCGAGTCGGAGTTTGTCA	0.522													A	63477140	G	A	63477140	2	1	4	1	0	0	0	0	0	0	0	1	3115	1103	39	1		1	CDH7	18	63477140	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1908091	63477140	14600108	3911	5976											
CCDC102B	79839	broad.mit.edu	37	chr18	66513554	66513554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttaaattatttagaatgCgcacagctttggaaaaagaa	7	5	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:66513554C>T	uc002lkk.2	+	5	1055	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	CCDC102B_uc002lki.2_Missense_Mutation_p.R278C|CCDC102B_uc002lkj.1_Missense_Mutation_p.R278C	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	278								p.R278C(2)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				ATTTAGAATGCGCACAGCTTT	0.318													T	66513554	C	T	66513554	3	4	4	1	0	0	0	0	1	0	0	0	2737	768	27	1	842	1	CCDC102B	18	66513554	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3036414	66513554	11563694	3912	5977											
RTTN	25914	broad.mit.edu	37	chr18	67727254	67727254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatgaatcatgaggtggcCgtggtgatgtactttcctgg	15	6	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:67727254C>T	uc002lkp.2	-	35	4840	c.4772G>A	c.(4771-4773)cGg>cAg	p.R1591Q	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Missense_Mutation_p.R679Q|RTTN_uc010dqp.2_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1591							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ATGAGGTGGCCGTGGTGATGT	0.383													T	67727254	C	T	67727254	3	4	4	1	0	0	0	0	1	0	0	0	13737	652	23	1	1964	1	RTTN	18	67727254	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1213700	67727254	10349994	3913	5978											
RTTN	25914	broad.mit.edu	37	chr18	67860572	67860572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctcctctgggtcgctggCctgtgcgcccaaccacagaa	10	16	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:67860572C>T	uc002lkp.2	-	7	1027	c.959G>A	c.(958-960)gGc>gAc	p.G320D	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.G320D	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	320							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GGGTCGCTGGCCTGTGCGCCC	0.542													T	67860572	C	T	67860572	3	4	4	1	0	0	0	0	1	0	0	0	13737	739	26	2	5889	2	RTTN	18	67860572	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	133318	67860572	10216676	3914	5979											
TSHZ1	10194	broad.mit.edu	37	chr18	72999217	72999217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttccgccgagcacaacGccctcctgcactccccaggg	9	19	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:72999217G>A	uc002lly.3	+	1	2283	c.1720G>A	c.(1720-1722)Gcc>Acc	p.A574T	TSHZ1_uc021uln.1_Missense_Mutation_p.A574T	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	619						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CGAGCACAACGCCCTCCTGCA	0.672													A	72999217	G	A	72999217	3	1	4	1	0	0	0	0	1	0	0	0	16620	1087	38	1	1722	1	TSHZ1	18	72999217	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5138645	72999217	5078031	3915	5980											
TSHZ1	10194	broad.mit.edu	37	chr18	72999371	72999371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctccctggccaaggctgCgtcccccatagcaaaagaga	11	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:72999371C>T	uc002lly.3	+	1	2437	c.1874C>T	c.(1873-1875)gCg>gTg	p.A625V	TSHZ1_uc021uln.1_Missense_Mutation_p.A625V	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	670						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCCAAGGCTGCGTCCCCCATA	0.562													T	72999371	C	T	72999371	3	4	4	1	0	0	0	0	1	0	0	0	16620	768	27	1	1876	1	TSHZ1	18	72999371	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	154	72999371	5077877	3916	5981											
TSHZ1	10194	broad.mit.edu	37	chr18	72999579	72999579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatggaccactcaccggaGccttccttcatcaacccgct	6	17	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:72999579G>A	uc002lly.3	+	1	2645	c.2082G>A	c.(2080-2082)gaG>gaA	p.E694E	TSHZ1_uc021uln.1_Silent_p.E694E	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	739						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACTCACCGGAGCCTTCCTTCA	0.592													A	72999579	G	A	72999579	2	1	4	1	0	0	0	0	0	0	0	1	16620	962	34	2		2	TSHZ1	18	72999579	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	208	72999579	5077669	3917	5982											
TSHZ1	10194	broad.mit.edu	37	chr18	72999867	72999867	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcacctctgcgggagagCgcactcatggacatctccga	11	14	4	1	rs142726083		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:72999867C>T	uc002lly.3	+	1	2933	c.2370C>T	c.(2368-2370)agC>agT	p.S790S	TSHZ1_uc021uln.1_Silent_p.S790S	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	835						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TGCGGGAGAGCGCACTCATGG	0.557													T	72999867	C	T	72999867	2	4	4	1	0	0	0	0	0	0	0	1	16620	767	27	1		1	TSHZ1	18	72999867	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	288	72999867	5077381	3918	5983											
ZNF516	9658	broad.mit.edu	37	chr18	74154862	74154862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgcttgcgcatgtgctgcGaaagcgagctctggaagggg	17	8	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:74154862G>A	uc021ulp.1	-	2	467	c.149C>T	c.(148-150)tCg>tTg	p.S50L		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CATGTGCTGCGAAAGCGAGCT	0.642													A	74154862	G	A	74154862	3	1	4	1	0	0	0	0	1	0	0	0	17957	1059	37	1	3363	1	ZNF516	18	74154862	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1154995	74154862	3922386	3919	5984											
ZNF236	7776	broad.mit.edu	37	chr18	74593430	74593430	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaactggataaaaaagAaaaaaaaatgataaagaaga	9	1	0	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:74593430A>G	uc002lmi.3	+	8	1571	c.1373A>G	c.(1372-1374)gAa>gGa	p.E458G	ZNF236_uc002lmj.3_Non-coding_Transcript|ZNF236_uc002lmk.1_Missense_Mutation_p.E458G	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	458					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GATAAAAAAGAAAAAAAAATG	0.383													G	74593430	A	G	74593430	3	3	4	1	0	0	0	0	1	0	0	0	17786	246	9	3	1407	3	ZNF236	18	74593430	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	438568	74593430	3483818	3920	5985											
ATP9B	374868	broad.mit.edu	37	chr18	77037168	77037168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccagaggaacttgggcgCctggtgtatttattgacaga	12	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:77037168C>T	uc002lmx.3	+	12	1397	c.1383C>T	c.(1381-1383)cgC>cgT	p.R461R	ATP9B_uc002lmv.1_Non-coding_Transcript|ATP9B_uc002lmw.1_Silent_p.R461R|ATP9B_uc002lmy.1_Non-coding_Transcript|ATP9B_uc002lmz.1_Silent_p.R155R	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	461					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		AACTTGGGCGCCTGGTGTATT	0.448													T	77037168	C	T	77037168	2	4	4	1	0	0	0	0	0	0	0	1	1199	726	26	2		2	ATP9B	18	77037168	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2443738	77037168	1040080	3921	5986											
ATP9B	374868	broad.mit.edu	37	chr18	77090061	77090061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaagggcgctgacgtggCcatgtctcctatcgtgcagt	13	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:77090061C>T	uc002lmx.3	+	16	1999	c.1985C>T	c.(1984-1986)gCc>gTc	p.A662V	ATP9B_uc002lmw.1_Missense_Mutation_p.A662V|ATP9B_uc002lmz.1_Missense_Mutation_p.A356V	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	662					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GCTGACGTGGCCATGTCTCCT	0.468													T	77090061	C	T	77090061	3	4	4	1	0	0	0	0	1	0	0	0	1199	739	26	2	2051	2	ATP9B	18	77090061	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	52893	77090061	987187	3922	5987											
ATP9B	374868	broad.mit.edu	37	chr18	77133950	77133950	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgagtctgagttcgtccaCgtggtggccatctccttcac	10	13	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:77133950C>T	uc002lmx.3	+	27	3137	c.3123C>T	c.(3121-3123)caC>caT	p.H1041H	ATP9B_uc002lmw.1_Silent_p.H1041H|ATP9B_uc002lna.3_Silent_p.H67H|ATP9B_uc002lnb.1_3'UTR|ATP9B_uc010drb.3_Non-coding_Transcript	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	1041					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		AGTTCGTCCACGTGGTGGCCA	0.602													T	77133950	C	T	77133950	2	4	4	1	0	0	0	0	0	0	0	1	1199	535	19	1		1	ATP9B	18	77133950	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	43889	77133950	943298	3923	5988											
NFATC1	4772	broad.mit.edu	37	chr18	77246433	77246433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaagcaccctgatgccaGcggcccctggcgtgagcccc	13	16	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:77246433G>A	uc010xfg.2	+	8	2731	c.2278G>A	c.(2278-2280)Gcg>Acg	p.A760T	NFATC1_uc002lnd.3_Missense_Mutation_p.A760T|NFATC1_uc002lne.3_Missense_Mutation_p.A288T|NFATC1_uc010xfh.2_Intron|NFATC1_uc010xfj.2_Missense_Mutation_p.A288T|NFATC1_uc002lnf.3_Missense_Mutation_p.A747T|NFATC1_uc002lng.3_Missense_Mutation_p.A747T|NFATC1_uc010xfk.2_Intron	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	760	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCTGATGCCAGCGGCCCCTGG	0.687													A	77246433	G	A	77246433	3	1	4	1	0	0	0	0	1	0	0	0	10361	971	34	2	2463	2	NFATC1	18	77246433	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	112483	77246433	830815	3924	5989											
CTDP1	9150	broad.mit.edu	37	chr18	77474877	77474877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgaagtcctcctcctccGcctctgatggcgaaagcgag	11	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:77474877G>A	uc002lnh.2	+	7	1564	c.1417G>A	c.(1417-1419)Gcc>Acc	p.A473T	CTDP1_uc002lni.2_Missense_Mutation_p.A473T|CTDP1_uc010drd.2_Missense_Mutation_p.A473T|CTDP1_uc021ult.1_Missense_Mutation_p.A354T	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	473	Ser-rich.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CTCCTCCTCCGCCTCTGATGG	0.677													A	77474877	G	A	77474877	3	1	4	1	0	0	0	0	1	0	0	0	4002	1087	38	1	1447	1	CTDP1	18	77474877	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	228444	77474877	602371	3925	5990											
KCNG2	26251	broad.mit.edu	37	chr18	77659090	77659090	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtgctggagaccgtgtgCgtggcctggttctccttcga	14	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:77659090C>T	uc010xfl.2	+	1	675	c.675C>T	c.(673-675)tgC>tgT	p.C225C		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	225					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		AGACCGTGTGCGTGGCCTGGT	0.682													T	77659090	C	T	77659090	2	4	4	1	0	0	0	0	0	0	0	1	8028	776	27	1		1	KCNG2	18	77659090	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	184213	77659090	418158	3926	5991											
PQLC1	80148	broad.mit.edu	37	chr18	77703340	77703340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccaacctgtaaaggagCggcgcctggcgttgagctcg	14	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:77703340C>T	uc002lnl.2	-	2	498	c.326G>A	c.(325-327)cGc>cAc	p.R109H	PQLC1_uc010dre.2_Missense_Mutation_p.R26H|PQLC1_uc002lnk.2_Missense_Mutation_p.R109H|PQLC1_uc010xfm.1_Missense_Mutation_p.R109H	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN	Homo sapiens PQ loop repeat containing 1 (PQLC1), transcript variant 1, mRNA.	109						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		TGTAAAGGAGCGGCGCCTGGC	0.582													T	77703340	C	T	77703340	3	4	4	1	0	0	0	0	1	0	0	0	12418	768	27	1	505	1	PQLC1	18	77703340	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	44250	77703340	373908	3927	5992											
ADNP2	22850	broad.mit.edu	37	chr18	77894583	77894583	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctctgtcacccctggggtCctgcaggctgtctcgccagg	12	17	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:77894583C>T	uc002lnw.3	+	3	1742	c.1287C>T	c.(1285-1287)gtC>gtT	p.V429V		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	429					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CCCCTGGGGTCCTGCAGGCTG	0.627													T	77894583	C	T	77894583	2	4	4	1	0	0	0	0	0	0	0	1	324	842	30	4		4	ADNP2	18	77894583	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	191243	77894583	182665	3928	5993											
ADNP2	22850	broad.mit.edu	37	chr18	77896106	77896106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcgccgtccatttggtgcGctgcagaagtgctcccaagg	12	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:77896106G>A	uc002lnw.3	+	3	3265	c.2810G>A	c.(2809-2811)cGc>cAc	p.R937H		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	937					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R937C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CATTTGGTGCGCTGCAGAAGT	0.557													A	77896106	G	A	77896106	3	1	4	1	0	0	0	0	1	0	0	0	324	1087	38	1	2820	1	ADNP2	18	77896106	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1523	77896106	181142	3929	5994											
PPAP2C	8612	broad.mit.edu	37	chr19	282274	282274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgtgggtcgcagcagccGtgcccacttccaacagagtc	12	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:282274G>A	uc002loh.3	-	4	743	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	PPAP2C_uc002loi.3_Missense_Mutation_p.R193W|PPAP2C_uc002loj.3_Missense_Mutation_p.R137W	NM_177543	NP_803545	O43688	LPP2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2C (PPAP2C), transcript variant 3, mRNA.	193					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCAGCAGCCGTGCCCACTTC	0.617													A	282274	G	A	282274	3	1	4	1	0	0	0	0	1	0	0	0	12292	1144	40	1	297	1	PPAP2C	19	282274	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08		282274	58846709	3930	5995											
MIER2	54531	broad.mit.edu	37	chr19	312230	312230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaccgcagccttcgcagggCctcctccacattgaagttgc	10	15	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:312230C>T	uc002lok.1	-	8	859	c.850G>A	c.(850-852)Gcc>Acc	p.A284T		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	284	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCGCAGGGCCTCCTCCACA	0.622													T	312230	C	T	312230	3	4	4	1	0	0	0	0	1	0	0	0	9581	739	26	2	811	2	MIER2	19	312230	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	29956	312230	58816753	3931	5996											
C19orf21	126353	broad.mit.edu	37	chr19	757730	757730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagggaagagaacaaggtgCgtgctgtgcccacctgggcc	15	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:757730C>T	uc002lpo.3	+	1	867	c.784C>T	c.(784-786)Cgt>Tgt	p.R262C		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	262										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAACAAGGTGCGTGCTGTGCC	0.657													T	757730	C	T	757730	3	4	4	1	0	0	0	0	1	0	0	0	1913	768	27	1	786	1	C19orf21	19	757730	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	445500	757730	58371253	3932	5997											
LPPR3	79948	broad.mit.edu	37	chr19	814918	814918	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcgtggatgtcgtggccGgagcagatgtcctgcgtgat	17	8	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:814918G>A	uc002lpw.1	-	4	631	c.567C>T	c.(565-567)tcC>tcT	p.S189S	LPPR3_uc021ulz.1_5'Flank|LPPR3_uc002lpx.1_Silent_p.S189S|LPPR3_uc002lpy.1_5'UTR	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 3 (LPPR3), mRNA.	189						integral to membrane	phosphatidate phosphatase activity	p.S189S(1)									TGTCGTGGCCGGAGCAGATGT	0.622													A	814918	G	A	814918	2	1	4	1	0	0	0	0	0	0	0	1	8926	1103	39	1		1	LPPR3	19	814918	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	57188	814918	58314065	3933	5998											
CFD	1675	broad.mit.edu	37	chr19	860951	860951	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgacgtgctccgcgcagtGccccacccggacagccagcc	11	19	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:860951G>A	uc002lqc.3	+	2	328	c.303G>A	c.(301-303)gtG>gtA	p.V101V		NM_001928	NP_001919	P00746	CFAD_HUMAN	Homo sapiens complement factor D (adipsin) (CFD), mRNA.	101	Peptidase S1.				complement activation, alternative pathway|platelet activation|platelet degranulation|proteolysis	platelet alpha granule lumen	serine-type endopeptidase activity						Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGCGCAGTGCCCCACCCGG	0.721													A	860951	G	A	860951	2	1	4	1	0	0	0	0	0	0	0	1	3281	1306	46	2		2	CFD	19	860951	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	46033	860951	58268032	3934	5999											
GRIN3B	116444	broad.mit.edu	37	chr19	1005443	1005443	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggccgcctgctcatgaaccTctgggccatcttctgcctgc	11	16	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:1005443T>A	uc002lqo.1	+	2	1943	c.1943T>A	c.(1942-1944)cTc>cAc	p.L648H		NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	648					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CTCATGAACCTCTGGGCCATC	0.632													A	1005443	T	A	1005443	3	1	4	1	0	0	0	0	1	0	0	0	6784	1551	54	5	1953	5	GRIN3B	19	1005443	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	144492	1005443	58123540	3935	6000											
APC2	10297	broad.mit.edu	37	chr19	1460307	1460307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaacctcacctttggggaCgttgccaacaaggtgcccgg	11	14	1	0	rs150932990		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:1460307C>T	uc002lsr.1	+	10	1639	c.1431C>T	c.(1429-1431)gaC>gaT	p.D477D	APC2_uc002lss.1_Silent_p.D59D|APC2_uc002lst.1_Silent_p.D477D|APC2_uc002lsu.1_Silent_p.D476D	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	477					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTTGGGGACGTTGCCAACA	0.617													T	1460307	C	T	1460307	2	4	4	1	0	0	0	0	0	0	0	1	764	535	19	1		1	APC2	19	1460307	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	454864	1460307	57668676	3936	6001											
AP3D1	8943	broad.mit.edu	37	chr19	2114816	2114816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctcgtcgctgggcagaGcattctgacaggaagagagg	14	10	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:2114816G>A	uc002lva.3	-	20	2577	c.2354C>T	c.(2353-2355)gCt>gTt	p.A785V	AP3D1_uc002luy.3_Missense_Mutation_p.A694V|AP3D1_uc002luz.3_Missense_Mutation_p.A785V	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	785					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGGCAGAGCATTCTGACA	0.592													A	2114816	G	A	2114816	3	1	4	1	0	0	0	0	1	0	0	0	746	971	34	2	1305	2	AP3D1	19	2114816	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	654509	2114816	57014167	3937	6002											
ZNF554	115196	broad.mit.edu	37	chr19	2834253	2834253	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccggaggcattctttgagCgaacatcaaagaattcacac	8	10	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:2834253C>T	uc002lwm.2	+	4	1218	c.1020C>T	c.(1018-1020)agC>agT	p.S340S	ZNF554_uc002lwl.2_Silent_p.S289S	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTCTTTGAGCGAACATCAAA	0.537													T	2834253	C	T	2834253	2	4	4	1	0	0	0	0	0	0	0	1	17982	767	27	1		1	ZNF554	19	2834253	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	719437	2834253	56294730	3938	6003											
ZNF555	148254	broad.mit.edu	37	chr19	2852711	2852711	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtacttcctccctcaaTcggcatgtaaggattcacac	6	15	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:2852711T>A	uc002lwo.3	+	3	786	c.648T>A	c.(646-648)aaT>aaA	p.N216K	ZNF555_uc002lwn.4_Missense_Mutation_p.N215K	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCCTCAATCGGCATGTAA	0.433													A	2852711	T	A	2852711	3	1	4	1	0	0	0	0	1	0	0	0	17983	1432	50	5	662	5	ZNF555	19	2852711	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	18458	2852711	56276272	3939	6004											
ZNF555	148254	broad.mit.edu	37	chr19	2852932	2852932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atataaatgtaaggaatgtgCggaagcctttagttattcct	9	5	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:2852932C>T	uc002lwo.3	+	3	1007	c.869C>T	c.(868-870)gCg>gTg	p.A290V	ZNF555_uc002lwn.4_Missense_Mutation_p.A289V	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGAATGTGCGGAAGCCTTT	0.403													T	2852932	C	T	2852932	3	4	4	1	0	0	0	0	1	0	0	0	17983	768	27	1	883	1	ZNF555	19	2852932	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	221	2852932	56276051	3940	6005											
DOHH	83475	broad.mit.edu	37	chr19	3496805	3496805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcatccacctcctgctccGtcaccatcgtgctgtcaatg	8	16	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:3496805G>A	uc002lxs.3	-	1	171	c.8C>T	c.(7-9)aCg>aTg	p.T3M	DOHH_uc010xhl.2_Missense_Mutation_p.T3M	NM_031304	NP_112594	Q9BU89	DOHH_HUMAN	Homo sapiens deoxyhypusine hydroxylase/monooxygenase (DOHH), transcript variant 2, mRNA.	3					peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTGCTCCGTCACCATCGT	0.652													A	3496805	G	A	3496805	3	1	4	1	0	0	0	0	1	0	0	0	4695	1145	40	1	916	1	DOHH	19	3496805	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	643873	3496805	55632178	3941	6006											
FZR1	51343	broad.mit.edu	37	chr19	3523019	3523019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgagcggcgcctgcttcGccagatcgtcatccagaatg	11	13	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:3523019G>A	uc010dtk.2	+	0	66	c.32G>A	c.(31-33)cGc>cAc	p.R11H	FZR1_uc002lxt.2_Missense_Mutation_p.R11H|FZR1_uc002lxv.2_Missense_Mutation_p.R11H	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	11					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCTGCTTCGCCAGATCGTC	0.687													A	3523019	G	A	3523019	3	1	4	1	0	0	0	0	1	0	0	0	6138	1087	38	1	34	1	FZR1	19	3523019	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	26214	3523019	55605964	3942	6007											
C19orf29	58509	broad.mit.edu	37	chr19	3624136	3624136	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgcatccctgagcgctgCcaccgctcttcctctgaatc	7	18	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:3624136C>T	uc002lyh.3	-	1	245	c.192G>A	c.(190-192)tgG>tgA	p.W64*	C19orf29_uc002lyi.4_Nonsense_Mutation_p.W64*|C19orf29_uc010dto.3_Non-coding_Transcript	NM_001080543	NP_067054	Q8WUQ7	CS029_HUMAN	Homo sapiens chromosome 19 open reading frame 29 (C19orf29), transcript variant 1, mRNA.	64						catalytic step 2 spliceosome	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(2)	15		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGAGCGCTGCCACCGCTCTT	0.637													T	3624136	C	T	3624136	4	4	4	1	0	0	0	0	0	1	0	0	1918	740	26	2	2120	2	C19orf29	19	3624136	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	101117	3624136	55504847	3943	6008											
ATCAY	85300	broad.mit.edu	37	chr19	3907775	3907775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaacatgcccggggacagCgcggatctatttggggacgg	16	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:3907775C>T	uc010xhz.2	+	5	903	c.420C>T	c.(418-420)agC>agT	p.S140S	ATCAY_uc002lyy.4_Silent_p.S134S|ATCAY_uc010dts.3_5'Flank			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	134					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CCGGGGACAGCGCGGATCTAT	0.657													T	3907775	C	T	3907775	2	4	4	1	0	0	0	0	0	0	0	1	1077	767	27	1		1	ATCAY	19	3907775	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	283639	3907775	55221208	3944	6009											
CHAF1A	10036	broad.mit.edu	37	chr19	4409428	4409428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggagctgcccggagctgaCgagtggcccgagaatgtgcc	16	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:4409428C>T	uc002mal.3	+	2	732	c.632C>T	c.(631-633)aCg>aTg	p.T211M		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	211	Binds to CBX1 chromo shadow domain.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGAGCTGACGAGTGGCCCG	0.597								Chromatin Structure					T	4409428	C	T	4409428	3	4	4	1	0	0	0	0	1	0	0	0	3311	536	19	1	642	1	CHAF1A	19	4409428	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	501653	4409428	54719555	3945	6010											
FEM1A	55527	broad.mit.edu	37	chr19	4792951	4792951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaccgaggagctggaggCgctgatcaccgacccggatg	14	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:4792951C>T	uc002mbf.3	+	0	1224	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	AK126532_uc002mbg.1_Non-coding_Transcript	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	Homo sapiens fem-1 homolog a (C. elegans) (FEM1A), mRNA.	362					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GAGCTGGAGGCGCTGATCACC	0.632													T	4792951	C	T	4792951	3	4	4	1	0	0	0	0	1	0	0	0	5809	768	27	1	1087	1	FEM1A	19	4792951	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	383523	4792951	54336032	3946	6011											
TICAM1	148022	broad.mit.edu	37	chr19	4816588	4816588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattcgagccccatagggcGccccagtcccaaatgacatg	10	15	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:4816588G>A	uc002mbi.3	-	1	2053	c.1802C>T	c.(1801-1803)gCg>gTg	p.A601V	TICAM1_uc021unj.1_Missense_Mutation_p.A601V	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	601	Sufficient to induce apoptosis.				I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCCATAGGGCGCCCCAGTCCC	0.662													A	4816588	G	A	4816588	3	1	4	1	0	0	0	0	1	0	0	0	15889	1087	38	1	340	1	TICAM1	19	4816588	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	23637	4816588	54312395	3947	6012											
TICAM1	148022	broad.mit.edu	37	chr19	4818028	4818028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagctgagggtgcggacgGcttcctggtaggccacgtcc	17	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:4818028G>A	uc002mbi.3	-	1	613	c.362C>T	c.(361-363)gCc>gTc	p.A121V	TICAM1_uc021unj.1_Missense_Mutation_p.A121V	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	121					I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGTGCGGACGGCTTCCTGGTA	0.677													A	4818028	G	A	4818028	3	1	4	1	0	0	0	0	1	0	0	0	15889	1203	42	2	1780	2	TICAM1	19	4818028	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1440	4818028	54310955	3948	6013											
KDM4B	23030	broad.mit.edu	37	chr19	5041189	5041189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactttgatgaccttgaacGcaaatactggaagaacctca	9	9	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:5041189G>A	uc010xim.2	+	3	467	c.359G>A	c.(358-360)cGc>cAc	p.R120H	KDM4B_uc010xil.1_Missense_Mutation_p.R120H|KDM4B_uc002mbq.4_Missense_Mutation_p.R120H	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	120					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GACCTTGAACGCAAATACTGG	0.552													A	5041189	G	A	5041189	3	1	4	1	0	0	0	0	1	0	0	0	8129	1087	38	1	369	1	KDM4B	19	5041189	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	223161	5041189	54087794	3949	6014											
PTPRS	5802	broad.mit.edu	37	chr19	5206828	5206828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgaggtactccagtgccGcctggtaacagaactggtac	11	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:5206828G>A	uc002mbv.3	-	37	6038	c.5804C>T	c.(5803-5805)gCg>gTg	p.A1935V	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.2_Missense_Mutation_p.A1477V|PTPRS_uc002mbw.3_Missense_Mutation_p.A1897V|PTPRS_uc002mbx.3_Missense_Mutation_p.A1492V|PTPRS_uc002mby.3_Missense_Mutation_p.A1488V	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1935	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CTCCAGTGCCGCCTGGTAACA	0.622													A	5206828	G	A	5206828	3	1	4	1	0	0	0	0	1	0	0	0	12811	1087	38	1	46	1	PTPRS	19	5206828	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	165639	5206828	53922155	3950	6015											
PTPRS	5802	broad.mit.edu	37	chr19	5244179	5244179	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgcgctgagcatccgggCttgcacgttccgcggcgcgc	16	15	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:5244179C>A	uc002mbv.3	-	10	1537	c.1303G>T	c.(1303-1305)Gcc>Tcc	p.A435S	PTPRS_uc002mbu.1_Missense_Mutation_p.A422S|PTPRS_uc010xin.2_Missense_Mutation_p.A422S|PTPRS_uc002mbw.3_Missense_Mutation_p.A422S|PTPRS_uc002mbx.3_Missense_Mutation_p.A426S|PTPRS_uc002mby.3_Missense_Mutation_p.A422S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	435	Fibronectin type-III 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		AGCATCCGGGCTTGCACGTTC	0.701													A	5244179	C	A	5244179	3	1	4	1	0	0	0	0	1	0	0	0	12811	797	28	5	4655	5	PTPRS	19	5244179	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	37351	5244179	53884804	3951	6016											
RFX2	5990	broad.mit.edu	37	chr19	6004294	6004294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttggcaaagttacggatgGcctgtgtcaaggtacctggg	14	8	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:6004294G>A	uc002meb.3	-	12	1687	c.1418C>T	c.(1417-1419)gCc>gTc	p.A473V	RFX2_uc002mec.3_Missense_Mutation_p.A448V	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GTTACGGATGGCCTGTGTCAA	0.542													A	6004294	G	A	6004294	3	1	4	1	0	0	0	0	1	0	0	0	13263	1203	42	2	777	2	RFX2	19	6004294	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	760115	6004294	53124689	3952	6017											
C3	718	broad.mit.edu	37	chr19	6711033	6711033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggatcttggcctcgtgggCgcggtccattcgcaggagga	17	11	1	0	rs149692538		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:6711033C>T	uc002mfm.3	-	11	1506	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	482					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCCTCGTGGGCGCGGTCCATT	0.607													T	6711033	C	T	6711033	3	4	4	1	0	0	0	0	1	0	0	0	2204	768	27	1	3667	1	C3	19	6711033	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	706739	6711033	52417950	3953	6018											
ZNF557	79230	broad.mit.edu	37	chr19	7076449	7076449	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggaggagtgggcattgCtggaccctgcccaaaggaca	14	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:7076449C>T	uc002mga.3	+	4	663	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L	ZNF557_uc002mgb.3_Silent_p.L53L|ZNF557_uc002mgc.3_Silent_p.L60L	NM_024341	NP_077317	Q8N988	ZN557_HUMAN	Homo sapiens zinc finger protein 557 (ZNF557), transcript variant 1, mRNA.	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GTGGGCATTGCTGGACCCTGC	0.542													T	7076449	C	T	7076449	2	4	4	1	0	0	0	0	0	0	0	1	17985	796	28	2		2	ZNF557	19	7076449	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	365416	7076449	52052534	3954	6019											
INSR	3643	broad.mit.edu	37	chr19	7141702	7141702	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttacctcatcaccatatcGccgataactcacttcataca	2	16	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:7141702G>A	uc002mgd.1	-	12	2777	c.2668C>T	c.(2668-2670)Cga>Tga	p.R890*	INSR_uc002mge.1_Nonsense_Mutation_p.R878*	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	890	Fibronectin type-III 3.				G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCACCATATCGCCGATAACTC	0.522													A	7141702	G	A	7141702	4	1	4	1	0	0	0	0	0	1	0	0	7773	1095	38	1	1520	1	INSR	19	7141702	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	65253	7141702	51987281	3955	6020											
INSR	3643	broad.mit.edu	37	chr19	7170578	7170578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccccattggtcttcagggCaatgtcgtttctctcctggc	10	13	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:7170578C>T	uc002mgd.1	-	5	1562	c.1453G>A	c.(1453-1455)Gcc>Acc	p.A485T	INSR_uc002mge.1_Missense_Mutation_p.A485T|INSR_uc002mgf.3_Missense_Mutation_p.A485T	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	485					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTCTTCAGGGCAATGTCGTTT	0.498													T	7170578	C	T	7170578	3	4	4	1	0	0	0	0	1	0	0	0	7773	710	25	2	2763	2	INSR	19	7170578	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	28876	7170578	51958405	3956	6021											
ARHGEF18	23370	broad.mit.edu	37	chr19	7509198	7509198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcaaggccattggccGcctcttcccatgcgctgacg	11	16	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:7509198G>A	uc002mgi.3	+	3	1158	c.905G>A	c.(904-906)cGc>cAc	p.R302H	ARHGEF18_uc010xjm.1_Missense_Mutation_p.R144H|ARHGEF18_uc002mgh.3_Missense_Mutation_p.R144H|ARHGEF18_uc002mgj.1_5'Flank	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	302	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCCATTGGCCGCCTCTTCCCA	0.647													A	7509198	G	A	7509198	3	1	4	1	0	0	0	0	1	0	0	0	901	1087	38	1	919	1	ARHGEF18	19	7509198	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	338620	7509198	51619785	3957	6022											
PNPLA6	10908	broad.mit.edu	37	chr19	7614956	7614956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcacactgcgagcccaacGcgactgcaccttcctgcgga	9	17	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:7614956G>A	uc010xjq.2	+	15	2039	c.1799G>A	c.(1798-1800)cGc>cAc	p.R600H	PNPLA6_uc002mgq.2_Missense_Mutation_p.R552H|PNPLA6_uc010xjp.2_Missense_Mutation_p.R526H|PNPLA6_uc002mgr.2_Missense_Mutation_p.R552H|PNPLA6_uc002mgs.3_Missense_Mutation_p.R591H	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	591					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CGAGCCCAACGCGACTGCACC	0.632													A	7614956	G	A	7614956	3	1	4	1	0	0	0	0	1	0	0	0	12169	1087	38	1	1857	1	PNPLA6	19	7614956	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	105758	7614956	51514027	3958	6023											
XAB2	56949	broad.mit.edu	37	chr19	7687312	7687312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgcaggtccaggatgcggtCgtacacggccttggtggact	15	11	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:7687312C>T	uc002mgx.3	-	11	1548	c.1522G>A	c.(1522-1524)Gac>Aac	p.D508N		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	508					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						AGGATGCGGTCGTACACGGCC	0.607								Direct reversal of damage;Nucleotide excision repair (NER)					T	7687312	C	T	7687312	3	4	4	1	0	0	0	0	1	0	0	0	17415	884	31	1	1077	1	XAB2	19	7687312	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	72356	7687312	51441671	3959	6024											
STXBP2	6813	broad.mit.edu	37	chr19	7703933	7703933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggatcacccaagcatgcGcatcttgtcttcctgctgca	8	14	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:7703933G>A	uc010xjr.2	+	2	161	c.116G>A	c.(115-117)cGc>cAc	p.R39H	STXBP2_uc002mha.4_Missense_Mutation_p.R39H|STXBP2_uc002mhb.4_Missense_Mutation_p.R39H|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc010dvl.2_5'Flank	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	39					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCAAGCATGCGCATCTTGTCT	0.577													A	7703933	G	A	7703933	3	1	4	1	0	0	0	0	1	0	0	0	15352	1087	38	1	126	1	STXBP2	19	7703933	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	16621	7703933	51425050	3960	6025											
CLEC4M	10332	broad.mit.edu	37	chr19	7831687	7831687	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtaatcaaaactgctgaGgagcaggtacacgtggtggg	15	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:7831687G>T	uc010dvt.3	+	4	1048	c.930G>T	c.(928-930)gaG>gaT	p.E310D	CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc002mih.3_Missense_Mutation_p.E287D|CLEC4M_uc010xjw.2_Missense_Mutation_p.E243D|CLEC4M_uc010dvs.3_Missense_Mutation_p.E286D|CLEC4M_uc010xjx.2_Missense_Mutation_p.E259D|CLEC4M_uc002mhz.3_Missense_Mutation_p.E218D|CLEC4M_uc002mic.3_Missense_Mutation_p.E282D|CLEC4M_uc002mia.3_Missense_Mutation_p.E174D	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	310	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AAACTGCTGAGGAGCAGGTAC	0.592													T	7831687	G	T	7831687	3	4	4	1	0	0	0	0	1	0	0	0	3518	991	35	5	969	5	CLEC4M	19	7831687	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	127754	7831687	51297296	3961	6026											
LRRC8E	80131	broad.mit.edu	37	chr19	7965043	7965043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgtccctccggagcaacGccgggaaggtgccagccagt	14	13	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:7965043G>A	uc002mir.3	+	2	1737	c.1636G>A	c.(1636-1638)Gcc>Acc	p.A546T		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	546						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CCGGAGCAACGCCGGGAAGGT	0.657													A	7965043	G	A	7965043	3	1	4	1	0	0	0	0	1	0	0	0	9025	1087	38	1	1642	1	LRRC8E	19	7965043	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	133356	7965043	51163940	3962	6027											
FBN3	84467	broad.mit.edu	37	chr19	8136980	8136980	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccggtcccgaggggagagGccattgatcttgcattcgta	15	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:8136980G>A	uc002mjf.3	-	61	8057	c.8040C>T	c.(8038-8040)ggC>ggT	p.G2680G	FBN3_uc002mje.3_Silent_p.G476G	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2680						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAGGGGAGAGGCCATTGATCT	0.647													A	8136980	G	A	8136980	2	1	4	1	0	0	0	0	0	0	0	1	5704	1190	42	2		2	FBN3	19	8136980	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	171937	8136980	50992003	3963	6028											
HNRNPM	4670	broad.mit.edu	37	chr19	8551958	8551958	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggacaaattcaacgagtgCggtaagtgttgggaacggct	14	6	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:8551958C>T	uc010dwe.3	+	15	2109	c.2029_splice	c.e15+1	p.G677_splice	HNRNPM_uc010dwd.3_Splice_Site_p.G638_splice|HNRNPM_uc002mka.3_Splice_Site_p.G542_splice|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	677	RRM 3.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TCAACGAGTGCGGTAAGTGTT	0.522													T	8551958	C	T	8551958	5	4	4	1	0	0	0	0	0	0	1	0	7271	782	27	1	2086	1	HNRNPM	19	8551958	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	414978	8551958	50577025	3964	6029											
MYO1F	4542	broad.mit.edu	37	chr19	8595407	8595407	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccaggccttctggatggtTcgggcaaagccatcgaactt	12	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:8595407T>C	uc002mkg.3	-	19	2232	c.2094A>G	c.(2092-2094)cgA>cgG	p.R698R		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	698	IQ.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCTGGATGGTTCGGGCAAAGC	0.667													C	8595407	T	C	8595407	2	2	4	1	0	0	0	0	0	0	0	1	10073	1770	62	3		3	MYO1F	19	8595407	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	43449	8595407	50533576	3965	6030											
MYO1F	4542	broad.mit.edu	37	chr19	8604860	8604860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagccggcggtgctggggcGccccttcttgtctccatcca	14	15	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:8604860G>A	uc002mkg.3	-	15	1801	c.1663C>T	c.(1663-1665)Cgc>Tgc	p.R555C		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	555	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.R555C(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTGCTGGGGCGCCCCTTCTTG	0.637													A	8604860	G	A	8604860	3	1	4	1	0	0	0	0	1	0	0	0	10073	1087	38	1	1685	1	MYO1F	19	8604860	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	9453	8604860	50524123	3966	6031											
MYO1F	4542	broad.mit.edu	37	chr19	8618252	8618252	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggaccttctcgcctccGccagacaccttggagatgta	9	15	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:8618252G>A	uc002mkg.3	-	4	534	c.396C>T	c.(394-396)ggC>ggT	p.G132G	MYO1F_uc010xkf.2_Silent_p.G132G	NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	132	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCTCGCCTCCGCCAGACACCT	0.547													A	8618252	G	A	8618252	2	1	4	1	0	0	0	0	0	0	0	1	10073	1074	38	1		1	MYO1F	19	8618252	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	13392	8618252	50510731	3967	6032											
ZNF558	148156	broad.mit.edu	37	chr19	8932718	8932718	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcattaaccagctctccGccctgtgtgtgtcctttttg	8	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:8932718G>A	uc002mkn.1	-	1	311	c.81C>T	c.(79-81)ggC>ggT	p.G27G	ZNF558_uc010xkh.1_5'Flank|ZNF558_uc010dwg.1_Silent_p.G27G	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	Homo sapiens zinc finger protein 558 (ZNF558), mRNA.	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CCAGCTCTCCGCCCTGTGTGT	0.512													A	8932718	G	A	8932718	2	1	4	1	0	0	0	0	0	0	0	1	17986	1074	38	1		1	ZNF558	19	8932718	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	314466	8932718	50196265	3968	6033											
MUC16	94025	broad.mit.edu	37	chr19	9047264	9047264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggtcagcatctttgatGcaccaggggagacagggaga	16	7	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:9047264G>A	uc002mkp.3	-	4	34571	c.34367C>T	c.(34366-34368)gCa>gTa	p.A11456V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11458	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATCTTTGATGCACCAGGGGA	0.498													A	9047264	G	A	9047264	3	1	4	1	0	0	0	0	1	0	0	0	9973	1319	46	2	9476	2	MUC16	19	9047264	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	114546	9047264	50081719	3969	6034											
MUC16	94025	broad.mit.edu	37	chr19	9049103	9049103	+	Frame_Shift_Del	DEL	A	A	-													tggtgtctgatttactatggAaaaaaatggaagttgtccag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:9049102_9049102GA>G	uc002mkp.3	-	4	32733	c.32529_32529TC>C	c.(32527-32529)ttcfs	p.F10843fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10845	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTTACTATGGAAAAAAATGG	0.488													-	9049103	A	-	9049103	7	5	4	1	0	1	0	1	0	0	0	0	9973	246	9	0	11315	0	MUC16	19	9049103	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	1839	9049103	50079880	3970	6035											
MUC16	94025	broad.mit.edu	37	chr19	9065788	9065788	+	Frame_Shift_Del	DEL	C	C	-													tgatatggcaacagttgtatCctcctgggtggaggtaataa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:9065787_9065787TC>T	uc002mkp.3	-	2	21863	c.21659_21659GA>A	c.(21658-21660)gatfs	p.D7220fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7222	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACAGTTGTATCCTCCTGGGT	0.483													-	9065788	C	-	9065788	7	5	4	1	0	1	0	1	0	0	0	0	9973	855	30	0	22193	0	MUC16	19	9065788	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	16685	9065788	50063195	3971	6036											
MUC16	94025	broad.mit.edu	37	chr19	9067419	9067419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcaacttgtgaaggacaGcacttttctctgtggatacg	11	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:9067419G>A	uc002mkp.3	-	2	20231	c.20027C>T	c.(20026-20028)gCt>gTt	p.A6676V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6678	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGAAGGACAGCACTTTTCTC	0.507													A	9067419	G	A	9067419	3	1	4	1	0	0	0	0	1	0	0	0	9973	971	34	2	23824	2	MUC16	19	9067419	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1631	9067419	50061564	3972	6037											
MUC16	94025	broad.mit.edu	37	chr19	9070156	9070156	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtctcaaagaaggcaggagTtgatgtagaaacacttgtat	11	5	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:9070156T>G	uc002mkp.3	-	2	17494	c.17290A>C	c.(17290-17292)Act>Cct	p.T5764P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5766	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGGCAGGAGTTGATGTAGAA	0.458													G	9070156	T	G	9070156	3	3	4	1	0	0	0	0	1	0	0	0	9973	1725	60	5	26561	5	MUC16	19	9070156	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	2737	9070156	50058827	3973	6038											
MUC16	94025	broad.mit.edu	37	chr19	9070335	9070335	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatggcttctgtgtgcgcaGtgtctttgtaagtggtcagt	14	7	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:9070335G>T	uc002mkp.3	-	2	17315	c.17111C>A	c.(17110-17112)aCt>aAt	p.T5704N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5706	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGTGCGCAGTGTCTTTGTA	0.502													T	9070335	G	T	9070335	3	4	4	1	0	0	0	0	1	0	0	0	9973	1029	36	5	26740	5	MUC16	19	9070335	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	179	9070335	50058648	3974	6039											
MUC16	94025	broad.mit.edu	37	chr19	9075638	9075638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctttgtctgtggtggaCtcagaaggggcaattctctc	12	10	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:9075638C>T	uc002mkp.3	-	2	12012	c.11808G>A	c.(11806-11808)gaG>gaA	p.E3936E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3937	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGGTGGACTCAGAAGGGG	0.478													T	9075638	C	T	9075638	2	4	4	1	0	0	0	0	0	0	0	1	9973	564	20	4		4	MUC16	19	9075638	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	5303	9075638	50053345	3975	6040											
OR7D2	162998	broad.mit.edu	37	chr19	9297198	9297198	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtgggtctcacctctccgtCgtttctttattttatgggac	9	10	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:9297198C>A	uc002mkz.1	+	0	929	c.741C>A	c.(739-741)gtC>gtA	p.V247V		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	247					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						ACCTCTCCGTCGTTTCTTTAT	0.473													A	9297198	C	A	9297198	2	1	4	1	0	0	0	0	0	0	0	1	11219	871	31	5		5	OR7D2	19	9297198	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	221560	9297198	49831785	3976	6041											
ZNF560	147741	broad.mit.edu	37	chr19	9577561	9577561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaaaggaatttccacatgCgttacattcagaggtcttct	8	9	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:9577561C>T	uc002mlp.1	-	9	2272	c.2062G>A	c.(2062-2064)Gca>Aca	p.A688T	ZNF560_uc010dwr.1_Missense_Mutation_p.A582T	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	688					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTTCCACATGCGTTACATTCA	0.373													T	9577561	C	T	9577561	3	4	4	1	0	0	0	0	1	0	0	0	17988	768	27	1	314	1	ZNF560	19	9577561	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	280363	9577561	49551422	3977	6042											
FBXL12	54850	broad.mit.edu	37	chr19	9922250	9922250	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggcgcttcaggttgggGcacttctggcccagggctct	15	12	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:9922250G>A	uc002mme.3	-	2	545	c.303C>T	c.(301-303)tgC>tgT	p.C101C	FBXL12_uc002mmd.3_Silent_p.C48C|FBXL12_uc002mmf.3_Silent_p.C48C|FBXL12_uc002mmg.3_Silent_p.C48C	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.	101							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						TCAGGTTGGGGCACTTCTGGC	0.662													A	9922250	G	A	9922250	2	1	4	1	0	0	0	0	0	0	0	1	5708	1195	42	2		2	FBXL12	19	9922250	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	344689	9922250	49206733	3978	6043											
COL5A3	50509	broad.mit.edu	37	chr19	10073525	10073525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacggaatgtgctataccaGcctccaggcttttccttgga	10	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:10073525G>A	uc002mmq.1	-	64	4907	c.4821C>T	c.(4819-4821)ggC>ggT	p.G1607G		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1607	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.G1607G(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TGCTATACCAGCCTCCAGGCT	0.547													A	10073525	G	A	10073525	2	1	4	1	0	0	0	0	0	0	0	1	3698	958	34	2		2	COL5A3	19	10073525	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	151275	10073525	49055458	3979	6044											
ANGPTL6	83854	broad.mit.edu	37	chr19	10203294	10203294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggccgaatgagcatggCggccttcctgagagaatatg	15	9	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:10203294C>T	uc002mmy.1	-	5	1576	c.1384G>A	c.(1384-1386)Gcc>Acc	p.A462T	C19orf66_uc002mmu.4_3'UTR|C19orf66_uc002mmv.4_3'UTR|C19orf66_uc002mmw.4_3'UTR|ANGPTL6_uc002mmx.2_Missense_Mutation_p.A462T	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	Homo sapiens angiopoietin-like 6 (ANGPTL6), mRNA.	462	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			ATGAGCATGGCGGCCTTCCTG	0.597													T	10203294	C	T	10203294	3	4	4	1	0	0	0	0	1	0	0	0	618	768	27	1	32	1	ANGPTL6	19	10203294	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	129769	10203294	48925689	3980	6045											
DNMT1	1786	broad.mit.edu	37	chr19	10252856	10252856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagagcaggttgatgtctgCgtggtagctcgctggagtgg	18	6	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:10252856C>T	uc002mng.3	-	28	3289	c.3109G>A	c.(3109-3111)Gca>Aca	p.A1037T	DNMT1_uc002mnf.3_5'UTR|DNMT1_uc010xlc.2_Missense_Mutation_p.A1053T|DNMT1_uc002mnh.3_Missense_Mutation_p.A932T|DNMT1_uc010xld.2_Missense_Mutation_p.A1037T	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	1037	BAH 2.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TTGATGTCTGCGTGGTAGCTC	0.602													T	10252856	C	T	10252856	3	4	4	1	0	0	0	0	1	0	0	0	4675	768	27	1	1789	1	DNMT1	19	10252856	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	49562	10252856	48876127	3981	6046											
MRPL4	51073	broad.mit.edu	37	chr19	10367487	10367487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatggcagcatccgctctcCgctctggcgaggaggtaaca	13	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:10367487C>T	uc002mnm.3	+	5	585	c.431C>T	c.(430-432)cCg>cTg	p.P144L	MRPL4_uc002mnn.3_Missense_Mutation_p.P144L|MRPL4_uc002mno.3_Missense_Mutation_p.P144L	NM_146387	NP_666499	Q9BYD3	RM04_HUMAN	Homo sapiens mitochondrial ribosomal protein L4 (MRPL4), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	144					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		ATCCGCTCTCCGCTCTGGCGA	0.687													T	10367487	C	T	10367487	3	4	4	1	0	0	0	0	1	0	0	0	9803	652	23	1	449	1	MRPL4	19	10367487	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	114631	10367487	48761496	3982	6047											
MRPL4	51073	broad.mit.edu	37	chr19	10370451	10370451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccccgacccctaccccacGctacccagggcccagcggcc	8	24	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:10370451G>A	uc002mnm.3	+	9	1052	c.898G>A	c.(898-900)Gct>Act	p.A300T	MRPL4_uc002mnn.3_Missense_Mutation_p.A300T|MRPL4_uc002mno.3_3'UTR	NM_146387	NP_666499	Q9BYD3	RM04_HUMAN	Homo sapiens mitochondrial ribosomal protein L4 (MRPL4), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	300					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		CCTACCCCACGCTACCCAGGG	0.662													A	10370451	G	A	10370451	3	1	4	1	0	0	0	0	1	0	0	0	9803	1087	38	1	985	1	MRPL4	19	10370451	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2964	10370451	48758532	3983	6048											
RAVER1	125950	broad.mit.edu	37	chr19	10439650	10439651	+	Frame_Shift_Ins	INS	-	-	G													aactgctgctgtgtgaggctINSggggggcaggttggccacac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:10439650_10439651insG	uc002moa.2	-	3	554_555	c.474_475insC	c.(472-477)CCCAGCfs	p.P158fs		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	141_142	RRM 2.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TGTGTGAGGCTGGGGGGCAGGT	0.649													G	10439651	-	G	10439650	7	5	4	1	0	1	1	0	0	0	0	0	13094	1580	55	0	1839	0	RAVER1	19	10439650	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	69199	10439650	48689333	3984	6049											
TYK2	7297	broad.mit.edu	37	chr19	10476334	10476334	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccactgtcccggatgtagcaGggctccccctcggcctgggc	13	17	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:10476334G>T	uc002moc.4	-	6	1248	c.870C>A	c.(868-870)ccC>ccA	p.P290P	TYK2_uc010dxe.3_Silent_p.P105P|TYK2_uc002mod.2_Silent_p.P290P	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	290	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GGATGTAGCAGGGCTCCCCCT	0.682													T	10476334	G	T	10476334	2	4	4	1	0	0	0	0	0	0	0	1	16807	987	35	5		5	TYK2	19	10476334	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	36684	10476334	48652649	3985	6050											
KEAP1	9817	broad.mit.edu	37	chr19	10610610	10610610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccttgcactcagtggaggCgtacatcaccgcgtcccctg	11	16	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:10610610C>T	uc002moq.1	-	1	256	c.100G>A	c.(100-102)Gcc>Acc	p.A34T	KEAP1_uc002mor.1_Missense_Mutation_p.A34T	NM_012289	NP_987096	Q14145	KEAP1_HUMAN	Homo sapiens kelch-like ECH-associated protein 1 (KEAP1), transcript variant 2, mRNA.	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TCAGTGGAGGCGTACATCACC	0.647													T	10610610	C	T	10610610	3	4	4	1	0	0	0	0	1	0	0	0	8141	768	27	1	1794	1	KEAP1	19	10610610	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	134276	10610610	48518373	3986	6051											
ATG4D	84971	broad.mit.edu	37	chr19	10663693	10663693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggctccctcgcacagggCggctcctcagggccaaacgc	12	18	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:10663693C>T	uc002mov.3	+	9	1495	c.1375C>T	c.(1375-1377)Cgg>Tgg	p.R459W	ATG4D_uc010xlh.2_Missense_Mutation_p.R396W|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Non-coding_Transcript|ATG4D_uc010dxj.3_Missense_Mutation_p.R126W	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.	459					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCGCACAGGGCGGCTCCTCAG	0.567													T	10663693	C	T	10663693	3	4	4	1	0	0	0	0	1	0	0	0	1099	759	27	1	1413	1	ATG4D	19	10663693	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	53083	10663693	48465290	3987	6052											
CDKN2D	1032	broad.mit.edu	37	chr19	10678072	10678072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagctccagggcgatggCggtgctgccaaacatcatga	13	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:10678072C>T	uc002mpa.3	-	1	465	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	KRI1_uc002mox.1_5'Flank|KRI1_uc002moy.1_5'Flank|CDKN2D_uc002mpb.3_Missense_Mutation_p.A55T	NM_001800	NP_524145	P55273	CDN2D_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) (CDKN2D), transcript variant 1, mRNA.	55					DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|anti-apoptosis|autophagic cell death|cell cycle arrest|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to UV|response to retinoic acid|response to vitamin D	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding			endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			AGGGCGATGGCGGTGCTGCCA	0.587													T	10678072	C	T	10678072	3	4	4	1	0	0	0	0	1	0	0	0	3166	768	27	1	341	1	CDKN2D	19	10678072	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	14379	10678072	48450911	3988	6053											
ILF3	3609	broad.mit.edu	37	chr19	10793873	10793873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagctgaacgagaagaggCgtgggctcaagtacgagctc	16	8	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:10793873C>T	uc002mpn.3	+	13	1926	c.1609C>T	c.(1609-1611)Cgt>Tgt	p.R537C	ILF3_uc010xli.1_Missense_Mutation_p.R135C|ILF3_uc002mpm.2_Missense_Mutation_p.R541C|ILF3_uc002mpl.2_Missense_Mutation_p.R537C|ILF3_uc002mpk.2_Missense_Mutation_p.R537C|ILF3_uc002mpo.3_Missense_Mutation_p.R541C|ILF3_uc002mpp.3_Missense_Mutation_p.R362C|ILF3_uc002mpq.3_5'Flank	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	537	DRBM 2.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CGAGAAGAGGCGTGGGCTCAA	0.592													T	10793873	C	T	10793873	3	4	4	1	0	0	0	0	1	0	0	0	7712	768	27	1	1671	1	ILF3	19	10793873	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	115801	10793873	48335110	3989	6054											
DNM2	1785	broad.mit.edu	37	chr19	10940929	10940929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagcctccttctcggcGcccccaatcccatcccggcc	8	22	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:10940929G>A	uc002mpt.2	+	19	2608	c.2418G>A	c.(2416-2418)gcG>gcA	p.A806A	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Silent_p.A806A|DNM2_uc010dxl.2_Silent_p.A806A|DNM2_uc002mpu.2_Silent_p.A802A|DNM2_uc002mpv.2_Silent_p.A802A|DNM2_uc002mpw.3_Silent_p.A535A|DNM2_uc002mpx.1_Silent_p.A162A	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	806	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCTTCTCGGCGCCCCCAATCC	0.697			"F, N, Splice, Mis, O"		ETP ALL								A	10940929	G	A	10940929	2	1	4	1	0	0	0	0	0	0	0	1	4672	1074	38	1		1	DNM2	19	10940929	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	147056	10940929	48188054	3990	6055											
YIPF2	78992	broad.mit.edu	37	chr19	11034602	11034602	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcctggacacccttgcgCcaccgcaggaagccccacag	10	19	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:11034602C>T	uc002mqc.3	-	6	685	c.558G>A	c.(556-558)tgG>tgA	p.W186*	DQ597473_uc021upb.1_5'Flank|YIPF2_uc002mqb.3_Nonsense_Mutation_p.W186*	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN	Homo sapiens Yip1 domain family, member 2 (YIPF2), mRNA.	186						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CACCCTTGCGCCACCGCAGGA	0.632													T	11034602	C	T	11034602	4	4	4	1	0	0	0	0	0	1	0	0	17475	740	26	2	404	2	YIPF2	19	11034602	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	93673	11034602	48094381	3991	6056											
RGL3	57139	broad.mit.edu	37	chr19	11505125	11505125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggtcccctctttccgccGcagcatgaagtctctggggg	13	15	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:11505125G>A	uc002mro.2	-	18	2168	c.2104C>T	c.(2104-2106)Cgg>Tgg	p.R702W	RGL3_uc002mrn.2_Intron|RGL3_uc002mrm.2_Intron|RGL3_uc002mrp.2_Missense_Mutation_p.R696W	NM_001161616	NP_001155088	Q3MIN7	RGL3_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 3 (RGL3), transcript variant 1, mRNA.	696	Interaction with HRAS, MRAS and RIT1 (By similarity).				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						TCTTTCCGCCGCAGCATGAAG	0.572													A	11505125	G	A	11505125	3	1	4	1	0	0	0	0	1	0	0	0	13278	1086	38	1	50	1	RGL3	19	11505125	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	470523	11505125	47623858	3992	6057											
CNN1	1264	broad.mit.edu	37	chr19	11658702	11658702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggaagctaagagaagggCggaacatcattgggctgcag	17	7	1	1	rs148076740		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:11658702C>T	uc002msc.1	+	4	645	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	CNN1_uc010xmb.1_Missense_Mutation_p.R111W|CNN1_uc010xmc.1_Missense_Mutation_p.R111W	NM_001299	NP_001290	P51911	CNN1_HUMAN	Homo sapiens calponin 1, basic, smooth muscle (CNN1), mRNA.	161					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						AAGAGAAGGGCGGAACATCAT	0.577													T	11658702	C	T	11658702	3	4	4	1	0	0	0	0	1	0	0	0	3609	759	27	1	499	1	CNN1	19	11658702	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	153577	11658702	47470281	3993	6058											
ZNF440	126070	broad.mit.edu	37	chr19	11942881	11942881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagcattcacgtgtccccGttatgttcgtatacatgaaa	7	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:11942881G>A	uc002msp.1	+	3	1046	c.890G>A	c.(889-891)cGt>cAt	p.R297H	ZNF440_uc021upk.1_5'Flank	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	Homo sapiens zinc finger protein 440 (ZNF440), mRNA.	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACGTGTCCCCGTTATGTTCGT	0.403													A	11942881	G	A	11942881	3	1	4	1	0	0	0	0	1	0	0	0	17910	1145	40	1	904	1	ZNF440	19	11942881	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	284179	11942881	47186102	3994	6059											
ZNF439	90594	broad.mit.edu	37	chr19	11978739	11978739	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccatagtcccagatcctgTcacagacatgaaaggagtca	8	11	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:11978739T>C	uc002mss.3	+	2	983	c.855T>C	c.(853-855)tgT>tgC	p.C285C	ZNF439_uc002msr.3_Silent_p.C149C	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	Homo sapiens zinc finger protein 439 (ZNF439), mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CCAGATCCTGTCACAGACATG	0.423													C	11978739	T	C	11978739	2	2	4	1	0	0	0	0	0	0	0	1	17908	1673	58	3		3	ZNF439	19	11978739	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	35858	11978739	47150244	3995	6060											
ZNF700	90592	broad.mit.edu	37	chr19	12089891	12089891	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttataagttttcaaacacAcctaagaatgcgctctggag	7	9	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:12089891A>G	uc010xmf.2	+	3	1338	c.1212A>G	c.(1210-1212)acA>acG	p.T404T	ZNF700_uc002msv.3_Silent_p.T387T|ZNF700_uc002msw.3_Silent_p.T384T|ZNF700_uc010xmg.2_Silent_p.T262T	NM_001012753	NP_001012771	Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 763 (ZNF763), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TTTCAAACACACCTAAGAATG	0.393													G	12089891	A	G	12089891	2	3	4	1	0	0	0	0	0	0	0	1	18101	146	6	3		3	ZNF700	19	12089891	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	111152	12089891	47039092	3996	6061											
ZNF878	729747	broad.mit.edu	37	chr19	12155504	12155504	+	Frame_Shift_Del	DEL	A	A	-													tctttttaacgaactgggagAaaaaaaggctttcccacata							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:12155503_12155503GA>G	uc021upl.1	-	3	879	c.713_713TC>C	c.(712-714)tctfs	p.S238fs	ZNF878_uc002mta.1_Frame_Shift_Del_p.S285fs	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CGAACTGGGAGAAAAAAAGGC	0.393													-	12155504	A	-	12155504	7	5	4	1	0	1	0	1	0	0	0	0	18193	246	9	0	887	0	ZNF878	19	12155504	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	65613	12155504	46973479	3997	6062											
ZNF791	163049	broad.mit.edu	37	chr19	12739704	12739704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgttcatttttcctagtgCgttacgaacacatgaaagaa	9	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:12739704C>T	uc002mua.2	+	3	1523	c.1361C>T	c.(1360-1362)gCg>gTg	p.A454V	ZNF791_uc010xml.1_Missense_Mutation_p.A422V|ZNF791_uc010dyu.1_Missense_Mutation_p.A345V|ZNF791_uc010xmm.1_Missense_Mutation_p.A345V	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	Homo sapiens zinc finger protein 791 (ZNF791), mRNA.	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TTTCCTAGTGCGTTACGAACA	0.398													T	12739704	C	T	12739704	3	4	4	1	0	0	0	0	1	0	0	0	18160	768	27	1	1375	1	ZNF791	19	12739704	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	584200	12739704	46389279	3998	6063											
MAN2B1	4125	broad.mit.edu	37	chr19	12776194	12776194	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaggtctcgcacgacttcCtgtgtggcatttgtctgctg	11	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:12776194C>A	uc002mub.2	-	2	484	c.408G>T	c.(406-408)caG>caT	p.Q136H	MAN2B1_uc010dyv.1_Missense_Mutation_p.Q136H|WDR83_uc002muc.3_5'Flank|WDR83_uc002mue.4_5'Flank	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	136					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCACGACTTCCTGTGTGGCAT	0.567													A	12776194	C	A	12776194	3	1	4	1	0	0	0	0	1	0	0	0	9216	680	24	5	2715	5	MAN2B1	19	12776194	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	36490	12776194	46352789	3999	6064											
TNPO2	30000	broad.mit.edu	37	chr19	12812201	12812201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctctccttgagcagcgGcgggaattgctcagagaact	12	12	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:12812201G>A	uc002mup.3	-	22	3361	c.2899C>T	c.(2899-2901)Ccg>Tcg	p.P967S	TNPO2_uc002muq.3_Missense_Mutation_p.P875S|TNPO2_uc002muo.3_Missense_Mutation_p.P885S|TNPO2_uc002mur.3_Missense_Mutation_p.P875S	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	885					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTGAGCAGCGGCGGGAATTGC	0.577													A	12812201	G	A	12812201	3	1	4	1	0	0	0	0	1	0	0	0	16333	1203	42	2	44	2	TNPO2	19	12812201	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	36007	12812201	46316782	4000	6065											
TNPO2	30000	broad.mit.edu	37	chr19	12826457	12826457	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcctacctcacaagtgTtgtaatcctccgagttaagc	7	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:12826457T>G	uc002mup.3	-	3	1160	c.698A>C	c.(697-699)aAc>aCc	p.N233T	TNPO2_uc002muq.3_Missense_Mutation_p.N141T|TNPO2_uc002muo.3_Missense_Mutation_p.N141T|TNPO2_uc002mur.3_Missense_Mutation_p.N141T	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	141					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCACAAGTGTTGTAATCCTC	0.597													G	12826457	T	G	12826457	3	3	4	1	0	0	0	0	1	0	0	0	16333	1725	60	5	2351	5	TNPO2	19	12826457	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	14256	12826457	46302526	4001	6066											
RNASEH2A	10535	broad.mit.edu	37	chr19	12924174	12924174	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccgagaatcaggagggacTcaggaagatcacatcctact	10	10	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:12924174T>C	uc002mvg.1	+	7	854	c.794T>C	c.(793-795)cTc>cCc	p.L265P		NM_006397	NP_006388	O75792	RNH2A_HUMAN	Homo sapiens ribonuclease H2, subunit A (RNASEH2A), mRNA.	265					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	RNA binding|metal ion binding|ribonuclease H activity			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						CAGGAGGGACTCAGGAAGATC	0.577													C	12924174	T	C	12924174	3	2	4	1	0	0	0	0	1	0	0	0	13412	1551	54	3	824	3	RNASEH2A	19	12924174	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	97717	12924174	46204809	4002	6067											
LPHN1	22859	broad.mit.edu	37	chr19	14266322	14266322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggaacagcagcgcgatgGcccccagcgcccaggatctg	14	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:14266322G>A	uc010xnn.2	-	18	3454	c.3158C>T	c.(3157-3159)gCc>gTc	p.A1053V	LPHN1_uc010xno.2_Missense_Mutation_p.A1048V|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	1053					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGCGCGATGGCCCCCAGCGC	0.652													A	14266322	G	A	14266322	3	1	4	1	0	0	0	0	1	0	0	0	8915	1203	42	2	1290	2	LPHN1	19	14266322	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1342148	14266322	44862661	4003	6068											
PKN1	5585	broad.mit.edu	37	chr19	14554393	14554393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaaggtgaagcagggggCggagaacatgatccagacct	16	8	0	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:14554393C>T	uc002myp.3	+	2	602	c.434C>T	c.(433-435)gCg>gTg	p.A145V	PKN1_uc002myq.3_Missense_Mutation_p.A151V	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	145					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						AAGCAGGGGGCGGAGAACATG	0.622													T	14554393	C	T	14554393	3	4	4	1	0	0	0	0	1	0	0	0	11979	768	27	1	487	1	PKN1	19	14554393	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	288071	14554393	44574590	4004	6069											
ZNF333	84449	broad.mit.edu	37	chr19	14815942	14815942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accattgactcgagaggaccGgccagctctccaggagccgc	12	15	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:14815942G>A	uc002mzn.3	+	5	517	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	ZNF333_uc010dzq.2_Missense_Mutation_p.R128Q|ZNF333_uc002mzk.4_Missense_Mutation_p.R19Q|ZNF333_uc002mzl.3_Missense_Mutation_p.R128Q|ZNF333_uc010dzr.1_Non-coding_Transcript	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	Homo sapiens zinc finger protein 333 (ZNF333), mRNA.	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CGAGAGGACCGGCCAGCTCTC	0.617													A	14815942	G	A	14815942	3	1	4	1	0	0	0	0	1	0	0	0	17847	1116	39	1	401	1	ZNF333	19	14815942	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	261549	14815942	44313041	4005	6070											
OR7C1	26664	broad.mit.edu	37	chr19	14910601	14910601	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcggtcataggccatcacGgtcaagagtaaattgtccag	11	9	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:14910601G>A	uc010xnz.2	-	0	348	c.348C>T	c.(346-348)acC>acT	p.T116T		NM_198944	NP_945182	O76099	OR7C1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA.	116					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AGGCCATCACGGTCAAGAGTA	0.478													A	14910601	G	A	14910601	2	1	4	1	0	0	0	0	0	0	0	1	11217	1103	39	1		1	OR7C1	19	14910601	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	94659	14910601	44218382	4006	6071											
OR7C2	26658	broad.mit.edu	37	chr19	15052847	15052847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actttttttgtgatccttccGaagtcctgaagctggcctgt	9	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:15052847G>A	uc010xoc.2	+	0	547	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TGATCCTTCCGAAGTCCTGAA	0.443													A	15052847	G	A	15052847	3	1	4	1	0	0	0	0	1	0	0	0	11218	1059	37	1	549	1	OR7C2	19	15052847	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	142246	15052847	44076136	4007	6072											
AKAP8	10270	broad.mit.edu	37	chr19	15472567	15472567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatctggttttggttttgCggtttctttctccatcaatt	9	7	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:15472567C>T	uc002nav.3	-	10	1439	c.1369G>A	c.(1369-1371)Gca>Aca	p.A457T	AKAP8_uc010dzy.3_Missense_Mutation_p.A6T|AKAP8_uc010dzz.1_Non-coding_Transcript|AKAP8_uc010xog.2_Missense_Mutation_p.A271T	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	457					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TTTGGTTTTGCGGTTTCTTTC	0.438													T	15472567	C	T	15472567	3	4	4	1	0	0	0	0	1	0	0	0	457	768	27	1	725	1	AKAP8	19	15472567	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	419720	15472567	43656416	4008	6073											
AKAP8L	26993	broad.mit.edu	37	chr19	15511828	15511828	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggctcatcaggactgccGccctgctttctcttcttctt	7	15	6	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:15511828G>A	uc002naw.1	-	5	942	c.843C>T	c.(841-843)ggC>ggT	p.G281G	AKAP8L_uc002nax.1_Non-coding_Transcript|AKAP8L_uc010xoh.1_Silent_p.G220G|AKAP8L_uc002nay.1_Silent_p.G281G|AKAP8L_uc002naz.3_Silent_p.G129G	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA.	281						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CAGGACTGCCGCCCTGCTTTC	0.607													A	15511828	G	A	15511828	2	1	4	1	0	0	0	0	0	0	0	1	458	1074	38	1		1	AKAP8L	19	15511828	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	39261	15511828	43617155	4009	6074											
CYP4F12	66002	broad.mit.edu	37	chr19	15807839	15807839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagctggaattgatcatgCgcgccgagggcgggctttgg	18	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:15807839C>T	uc002nbl.3	+	12	1638	c.1519C>T	c.(1519-1521)Cgc>Tgc	p.R507C		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ATTGATCATGCGCGCCGAGGG	0.567													T	15807839	C	T	15807839	3	4	4	1	0	0	0	0	1	0	0	0	4187	768	27	1	1565	1	CYP4F12	19	15807839	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	296011	15807839	43321144	4010	6075											
TMEM38A	79041	broad.mit.edu	37	chr19	16790841	16790841	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatcgcgtcctggctgtgCgccatgctgcattgcttcgg	12	15	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:16790841C>T	uc002nes.3	+	1	262	c.171C>T	c.(169-171)tgC>tgT	p.C57C		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	57						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CCTGGCTGTGCGCCATGCTGC	0.612													T	16790841	C	T	16790841	2	4	4	1	0	0	0	0	0	0	0	1	16156	776	27	1		1	TMEM38A	19	16790841	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	983002	16790841	42338142	4011	6076											
NWD1	284434	broad.mit.edu	37	chr19	16918398	16918398	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttttcttccctggcaggCgaggaacaagattccctgga	10	11	1	1	rs113245603		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:16918398C>T	uc002neu.4	+	18	4159	c.3737_splice	c.e18-1	p.G1246_splice	NWD1_uc002net.4_Splice_Site_p.G1111_splice|NWD1_uc002nev.4_Splice_Site_p.G1040_splice|NWD1_uc021uqg.1_Splice_Site_p.G1111_splice	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1246							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCTGGCAGGCGAGGAACAAG	0.507													T	16918398	C	T	16918398	5	4	4	1	0	0	0	0	0	0	1	0	10781	782	27	1	3387	1	NWD1	19	16918398	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	127557	16918398	42210585	4012	6077											
MYO9B	4650	broad.mit.edu	37	chr19	17295741	17295741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacgaccgcaccaccaagtCcctactgcacctgcacaaga	7	18	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:17295741C>T	uc010eak.3	+	16	2593	c.2441C>T	c.(2440-2442)tCc>tTc	p.S814F	MYO9B_uc002nfi.3_Missense_Mutation_p.S814F|MYO9B_uc002nfj.1_Missense_Mutation_p.S814F	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	814	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ACCACCAAGTCCCTACTGCAC	0.582													T	17295741	C	T	17295741	3	4	4	1	0	0	0	0	1	0	0	0	10085	855	30	4	2503	4	MYO9B	19	17295741	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	377343	17295741	41833242	4013	6078											
ANO8	57719	broad.mit.edu	37	chr19	17444229	17444229	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccagggacaggggactcGcctctcatacgtggcggtga	16	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:17444229G>A	uc002ngf.2	-	3	509	c.350_splice	c.e3+1	p.S117_splice	ANO8_uc010eap.2_Splice_Site|GTPBP3_uc010xpo.2_5'Flank	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	Homo sapiens anoctamin 8 (ANO8), mRNA.	117						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CAGGGGACTCGCCTCTCATAC	0.642													A	17444229	G	A	17444229	5	1	4	1	0	0	0	0	0	0	1	0	703	1101	38	1	3410	1	ANO8	19	17444229	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	148488	17444229	41684754	4014	6079											
ANO8	57719	broad.mit.edu	37	chr19	17444267	17444267	+	Missense_Mutation	SNP	C	C	T													tgacaaagaaggcgtaggcaCgcgtgtggcggtggtggcgg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:17444267C>T	uc002ngf.2	-	2	473	c.314G>A	c.(313-315)cGt>cAt	p.R105H	ANO8_uc010eap.2_Non-coding_Transcript|GTPBP3_uc010xpo.2_5'Flank	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	Homo sapiens anoctamin 8 (ANO8), mRNA.	105						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GGCGTAGGCACGCGTGTGGCG	0.647													T	17444267	C	T	17444267	3	4	4	1	0	0	0	0	1	0	0	0	703	536	19	1	3448	1	ANO8	19	17444267	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	38	17444267	41684716	4015	6080	11	2									
ANO8	57719	broad.mit.edu	37	chr19	17444269	17444269	+	Silent	SNP	C	C	T													acaaagaaggcgtaggcacgCgtgtggcggtggtggcggac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:17444269C>T	uc002ngf.2	-	2	471	c.312G>A	c.(310-312)acG>acA	p.T104T	ANO8_uc010eap.2_Non-coding_Transcript|GTPBP3_uc010xpo.2_5'Flank	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	Homo sapiens anoctamin 8 (ANO8), mRNA.	104						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CGTAGGCACGCGTGTGGCGGT	0.642													T	17444269	C	T	17444269	2	4	4	1	0	0	0	0	0	0	0	1	703	755	27	1		1	ANO8	19	17444269	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2	17444269	41684714	4016	6081	11	2									
PLVAP	83483	broad.mit.edu	37	chr19	17487766	17487766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggaagctggcattgatgCggtccaggtcgcggcgagca	18	10	0	1	rs144117840		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:17487766C>T	uc002ngk.1	-	0	372	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	111						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCATTGATGCGGTCCAGGTC	0.637													T	17487766	C	T	17487766	3	4	4	1	0	0	0	0	1	0	0	0	12116	768	27	1	1020	1	PLVAP	19	17487766	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	43497	17487766	41641217	4017	6082											
SLC27A1	376497	broad.mit.edu	37	chr19	17615413	17615413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatctgctcgggcgccttcGccctctgaagctgttcctct	10	16	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:17615413G>A	uc002ngu.1	+	11	1983	c.1933G>A	c.(1933-1935)Gcc>Acc	p.A645T	SLC27A1_uc010xpp.1_Missense_Mutation_p.A466T|SLC27A1_uc002ngv.1_Missense_Mutation_p.A247T	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 1 (SLC27A1), mRNA.	645					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GGGCGCCTTCGCCCTCTGAAG	0.622													A	17615413	G	A	17615413	3	1	4	1	0	0	0	0	1	0	0	0	14525	1087	38	1	1979	1	SLC27A1	19	17615413	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	127647	17615413	41513570	4018	6083											
GLT25D1	79709	broad.mit.edu	37	chr19	17678290	17678290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagaacaagacggtggtcGcccccatgctggattcccgg	13	13	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:17678290G>A	uc002nhc.1	+	3	577	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	GLT25D1_uc010eax.1_5'Flank	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 1 (GLT25D1), mRNA.	189					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	p.A189T(2)|p.V188V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	14						GACGGTGGTCGCCCCCATGCT	0.577													A	17678290	G	A	17678290	3	1	4	1	0	0	0	0	1	0	0	0	6466	1087	38	1	579	1	GLT25D1	19	17678290	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	62877	17678290	41450693	4019	6084											
SLC5A5	6528	broad.mit.edu	37	chr19	17983460	17983460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatgcccgtcttctaccGcctgggcctcaccagcacct	7	19	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:17983460G>A	uc002nhr.4	+	0	679	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	111					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GTCTTCTACCGCCTGGGCCTC	0.667													A	17983460	G	A	17983460	3	1	4	1	0	0	0	0	1	0	0	0	14668	1087	38	1	334	1	SLC5A5	19	17983460	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	305170	17983460	41145523	4020	6085											
KCNN1	3780	broad.mit.edu	37	chr19	18092607	18092607	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgctagagctggcagtgtgCgccattcacccggtgcccgg	14	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:18092607C>T	uc002nht.3	+	4	898	c.588C>T	c.(586-588)tgC>tgT	p.C196C	KCNN1_uc010xqa.1_Silent_p.C196C	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	196					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						TGGCAGTGTGCGCCATTCACC	0.677													T	18092607	C	T	18092607	2	4	4	1	0	0	0	0	0	0	0	1	8078	776	27	1		1	KCNN1	19	18092607	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	109147	18092607	41036376	4021	6086											
UPF1	5976	broad.mit.edu	37	chr19	18974986	18974986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaccttcgcagggagcccGcttcatgaccacagccatgt	9	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:18974986G>A	uc002nkg.3	+	19	3091	c.2816G>A	c.(2815-2817)cGc>cAc	p.R939H	UPF1_uc002nkf.3_Missense_Mutation_p.R928H|UPF1_uc002nkh.3_Missense_Mutation_p.R183H	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	939					DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding	p.R928L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CAGGGAGCCCGCTTCATGACC	0.597													A	18974986	G	A	18974986	3	1	4	1	0	0	0	0	1	0	0	0	17000	1087	38	1	2861	1	UPF1	19	18974986	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	882379	18974986	40153997	4022	6087											
DDX49	54555	broad.mit.edu	37	chr19	19033426	19033426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccccagggtgagcaccgtgGagcagctggaccagcgctac	14	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:19033426G>A	uc002nkq.2	+	5	716	c.649G>A	c.(649-651)Gag>Aag	p.E217K	HOMER3_uc002nkp.1_Intron|HOMER3_uc002nko.1_Intron|DDX49_uc002nks.2_Missense_Mutation_p.E110K|DDX49_uc002nkr.2_Non-coding_Transcript|DDX49_uc002nkt.1_Missense_Mutation_p.E99K	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 (DDX49), transcript variant 1, mRNA.	217							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			GAGCACCGTGGAGCAGCTGGA	0.637													A	19033426	G	A	19033426	3	1	4	1	0	0	0	0	1	0	0	0	4366	1175	41	4	671	4	DDX49	19	19033426	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	58440	19033426	40095557	4023	6088											
ARMC6	93436	broad.mit.edu	37	chr19	19153682	19153682	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtggagcagtttgaatcGcaaggtagggtggtgtgact	17	6	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:19153682G>A	uc002nld.3	+	2	624	c.192G>A	c.(190-192)tcG>tcA	p.S64S	ARMC6_uc002nlc.3_Silent_p.S39S|ARMC6_uc010xql.2_Intron|ARMC6_uc010xqm.2_Silent_p.S64S	NM_001199196	NP_001186125	Q6NXE6	ARMC6_HUMAN	Homo sapiens armadillo repeat containing 6 (ARMC6), transcript variant 1, mRNA.	64							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			AGTTTGAATCGCAAGGTAGGG	0.597													A	19153682	G	A	19153682	2	1	4	1	0	0	0	0	0	0	0	1	955	1074	38	1		1	ARMC6	19	19153682	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	120256	19153682	39975301	4024	6089											
NCAN	1463	broad.mit.edu	37	chr19	19337827	19337827	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagagatgttgggcagtggCcagagccggagcccctgggc	17	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:19337827C>T	uc002nlz.3	+	6	1704	c.1605C>T	c.(1603-1605)ggC>ggT	p.G535G	NCAN_uc010ecc.1_Silent_p.G99G	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	535					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TGGGCAGTGGCCAGAGCCGGA	0.647													T	19337827	C	T	19337827	2	4	4	1	0	0	0	0	0	0	0	1	10204	726	26	2		2	NCAN	19	19337827	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	184145	19337827	39791156	4025	6090											
HAPLN4	404037	broad.mit.edu	37	chr19	19369400	19369400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggcgatacccgtagttgCgcaggcccccgttggcatca	12	13	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:19369400C>T	uc002nmb.3	-	3	859	c.749G>A	c.(748-750)cGc>cAc	p.R250H	HAPLN4_uc002nmc.3_Missense_Mutation_p.R250H	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 4 (HAPLN4), mRNA.	250	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			CCCGTAGTTGCGCAGGCCCCC	0.697													T	19369400	C	T	19369400	3	4	4	1	0	0	0	0	1	0	0	0	6957	768	27	1	467	1	HAPLN4	19	19369400	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	31573	19369400	39759583	4026	6091											
ATP13A1	57130	broad.mit.edu	37	chr19	19770544	19770544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcttctccagggcatcGtaggaatacttgatcttctg	9	10	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:19770544G>A	uc002nnh.4	-	2	571	c.543C>T	c.(541-543)taC>taT	p.Y181Y	ATP13A1_uc002nng.3_Silent_p.Y63Y	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	181					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCAGGGCATCGTAGGAATACT	0.542													A	19770544	G	A	19770544	2	1	4	1	0	0	0	0	0	0	0	1	1123	1140	40	1		1	ATP13A1	19	19770544	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	401144	19770544	39358439	4027	6092											
ZNF253	56242	broad.mit.edu	37	chr19	19989293	19989293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtgtgttttccagggaCcattgcaatttagagatgtg	13	5	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:19989293C>T	uc002noj.3	+	1	99	c.7C>T	c.(7-9)Cca>Tca	p.P3S	ZNF253_uc002nok.3_Intron|ZNF253_uc002nol.3_Intron	NM_021047	NP_066385	O75346	ZN253_HUMAN	Homo sapiens zinc finger protein 253 (ZNF253), mRNA.	3					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTCCAGGGACCATTGCAATT	0.398													T	19989293	C	T	19989293	3	4	4	1	0	0	0	0	1	0	0	0	17794	507	18	4	13	4	ZNF253	19	19989293	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	218749	19989293	39139690	4028	6093											
ZNF626	199777	broad.mit.edu	37	chr19	20807894	20807894	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggatgacataaaggctttGccacatttatcacacttgta	8	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:20807894G>A	uc002npb.1	-	3	939	c.789C>T	c.(787-789)ggC>ggT	p.G263G	ZNF626_uc002npc.1_Silent_p.G187G	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TAAAGGCTTTGCCACATTTAT	0.398													A	20807894	G	A	20807894	2	1	4	1	0	0	0	0	0	0	0	1	18047	1306	46	2		2	ZNF626	19	20807894	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	818601	20807894	38321089	4029	6094											
ZNF493	284443	broad.mit.edu	37	chr19	21607422	21607422	+	Frame_Shift_Del	DEL	A	A	-													caagcaaattcatagtgtacAaaaaccctacaaatgtgaag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:21607421_21607421CA>C	uc002npw.3	+	3	2079	c.1960_1960CA>C	c.(1960-1962)caafs	p.Q654fs	ZNF493_uc002npx.3_Frame_Shift_Del_p.Q526fs|ZNF493_uc002npy.3_Frame_Shift_Del_p.Q526fs|ZNF493_uc021urq.1_Frame_Shift_Del_p.Q526fs	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TCATAGTGTACAAAAACCCTA	0.378													-	21607422	A	-	21607422	7	5	4	1	0	1	0	1	0	0	0	0	17941	130	5	0	2038	0	ZNF493	19	21607422	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	799528	21607422	37521561	4030	6095											
ZNF429	353088	broad.mit.edu	37	chr19	21720353	21720353	+	Frame_Shift_Del	DEL	A	A	-													cctcaaaccttaacagtcatAaaaaaattcatagtggagag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:21720352_21720352TA>T	uc002nqd.1	+	3	1634	c.1497_1497TA>T	c.(1495-1497)catfs	p.H499fs	ZNF429_uc010ecu.2_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I502fs*3(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TTAACAGTCATAAAAAAATTC	0.378													-	21720353	A	-	21720353	7	5	4	1	0	1	0	1	0	0	0	0	17899	363	13	0	1512	0	ZNF429	19	21720353	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	112931	21720353	37408630	4031	6096											
ZNF208	7757	broad.mit.edu	37	chr19	22156328	22156328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaccagttgaaagctttgCcacattcttcacatttgtag	8	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:22156328C>T	uc021urr.1	-	3	1657	c.1508G>A	c.(1507-1509)gGc>gAc	p.G503D	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAAAGCTTTGCCACATTCTTC	0.383													T	22156328	C	T	22156328	3	4	4	1	0	0	0	0	1	0	0	0	17763	739	26	2	2338	2	ZNF208	19	22156328	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	435975	22156328	36972655	4032	6097											
ZNF675	171392	broad.mit.edu	37	chr19	23836656	23836656	+	Frame_Shift_Del	DEL	T	T	-													gttgctctccagtatgaatgTttttatgttcagtaagtttt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:23836655_23836655GT>G	uc002nri.3	-	3	1262	c.1080_1080AC>C	c.(1078-1080)aacfs	p.N360fs		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	Homo sapiens zinc finger protein 675 (ZNF675), mRNA.	360					I-kappaB kinase/NF-kappaB cascade|bone resorption|cytokine-mediated signaling pathway|hemopoiesis|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CAGTATGAATGTTTTTATGTT	0.368													-	23836656	T	-	23836656	7	5	4	1	0	1	0	1	0	0	0	0	18079	1725	60	0	631	0	ZNF675	19	23836656	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	1680328	23836656	35292327	4033	6098											
CCNE1	898	broad.mit.edu	37	chr19	30313366	30313366	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcagggtatcagtggtgCgacatagagaactgtgtcaa	13	7	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:30313366C>T	uc002nsn.3	+	10	1149	c.966C>T	c.(964-966)tgC>tgT	p.C322C	CCNE1_uc002nso.3_Silent_p.C307C	NM_001238	NP_001229	P24864	CCNE1_HUMAN	Homo sapiens cyclin E1 (CCNE1), mRNA.	322					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			ATCAGTGGTGCGACATAGAGA	0.498			A		serous ovarian								T	30313366	C	T	30313366	2	4	4	1	0	0	0	0	0	0	0	1	2920	776	27	1		1	CCNE1	19	30313366	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	6476710	30313366	28815617	4034	6099											
CCNE1	898	broad.mit.edu	37	chr19	30313453	30313453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactgaagcacttcaggggCgtcgctgatgaagatgcaca	12	9	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:30313453C>T	uc002nsn.3	+	10	1236	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	CCNE1_uc002nso.3_Silent_p.G336G	NM_001238	NP_001229	P24864	CCNE1_HUMAN	Homo sapiens cyclin E1 (CCNE1), mRNA.	351					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	p.R350S(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			ACTTCAGGGGCGTCGCTGATG	0.493			A		serous ovarian								T	30313453	C	T	30313453	2	4	4	1	0	0	0	0	0	0	0	1	2920	755	27	1		1	CCNE1	19	30313453	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	87	30313453	28815530	4035	6100											
ZNF536	9745	broad.mit.edu	37	chr19	30935717	30935717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgcctgtgcccatgggCggcatgtcccaggaggccca	16	13	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:30935717C>T	uc002nsu.1	+	1	1386	c.1248C>T	c.(1246-1248)ggC>ggT	p.G416G	ZNF536_uc010edd.1_Silent_p.G416G	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGCCCATGGGCGGCATGTCCC	0.627													T	30935717	C	T	30935717	2	4	4	1	0	0	0	0	0	0	0	1	17971	755	27	1		1	ZNF536	19	30935717	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	622264	30935717	28193266	4036	6101											
TSHZ3	57616	broad.mit.edu	37	chr19	31769235	31769235	+	Frame_Shift_Del	DEL	T	T	-													tcttcttcgccaggcttgtcTttttgcttaggtttctcgtc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:31769234_31769234CT>C	uc002nsy.4	-	1	1530	c.1465_1465AG>G	c.(1465-1467)gacfs	p.D489fs		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	489					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CCAGGCTTGTCTTTTTGCTTA	0.468													-	31769235	T	-	31769235	7	5	4	1	0	1	0	1	0	0	0	0	16622	1606	56	0	1785	0	TSHZ3	19	31769235	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	833518	31769235	27359748	4037	6102											
ANKRD27	84079	broad.mit.edu	37	chr19	33096798	33096798	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaggcgtaaatgaggggCgtgtttccactgaggtcctt	15	8	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:33096798C>T	uc002ntn.1	-	23	2592	c.2436G>A	c.(2434-2436)acG>acA	p.T812T		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA.	812					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AAATGAGGGGCGTGTTTCCAC	0.522													T	33096798	C	T	33096798	2	4	4	1	0	0	0	0	0	0	0	1	655	755	27	1		1	ANKRD27	19	33096798	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1327563	33096798	26032185	4038	6103											
SLC7A9	11136	broad.mit.edu	37	chr19	33355554	33355554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcgtcgcgaggaccccGcaagccgcccatatgatgag	12	16	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:33355554G>A	uc002ntv.4	-	2	333	c.216C>T	c.(214-216)tgC>tgT	p.C72C	SLC7A9_uc002ntt.4_Intron|SLC7A9_uc002ntu.4_Silent_p.C72C|SLC7A9_uc021usa.1_Silent_p.C72C|SLC7A9_uc002ntw.4_Intron	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	72					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CGAGGACCCCGCAAGCCGCCC	0.632													A	33355554	G	A	33355554	2	1	4	1	0	0	0	0	0	0	0	1	14705	1079	38	1		1	SLC7A9	19	33355554	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	258756	33355554	25773429	4039	6104											
C19orf40	91442	broad.mit.edu	37	chr19	33464997	33464997	+	Frame_Shift_Del	DEL	A	A	-													taaaggaattgtagtcgttgAaaaaacccggatgagtgaac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:33464996_33464996GA>G	uc002nud.4	+	3	392	c.274_274GA>G	c.(274-276)gaafs	p.E92fs	CEP89_uc002nty.3_5'Flank|CEP89_uc010edg.3_5'Flank|CEP89_uc002nua.3_5'Flank|CEP89_uc002nuc.1_5'Flank	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Homo sapiens chromosome 19 open reading frame 40 (C19orf40), mRNA.	92					DNA repair	Fanconi anaemia nuclear complex	DNA binding|chromatin binding|protein binding	p.E92Q(4)		endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TGTAGTCGTTGAAAAAACCCG	0.418								Direct reversal of damage					-	33464997	A	-	33464997	7	5	4	1	0	1	0	1	0	0	0	0	1923	246	9	0	285	0	C19orf40	19	33464997	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	109443	33464997	25663986	4040	6105											
GPATCH1	55094	broad.mit.edu	37	chr19	33602674	33602674	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcatgacagagtgggagCgaggccgtgagcgggatgag	19	8	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:33602674C>T	uc002nug.1	+	11	1944	c.1630C>T	c.(1630-1632)Cga>Tga	p.R544*	GPATCH1_uc002nuh.1_5'Flank	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	544						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					AGAGTGGGAGCGAGGCCGTGA	0.587													T	33602674	C	T	33602674	4	4	4	1	0	0	0	0	0	1	0	0	6590	760	27	1	1676	1	GPATCH1	19	33602674	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	137677	33602674	25526309	4041	6106											
PEPD	5184	broad.mit.edu	37	chr19	34002042	34002042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctcagtgacaccgaacGcccagtgaaagaaggactcc	11	13	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:34002042G>A	uc002nur.4	-	2	354	c.221C>T	c.(220-222)gCg>gTg	p.A74V	PEPD_uc010xrs.2_Intron|PEPD_uc010xrr.2_Missense_Mutation_p.A74V	NM_000285	NP_000276	P12955	PEPD_HUMAN	Homo sapiens peptidase D (PEPD), transcript variant 1, mRNA.	74					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					GACACCGAACGCCCAGTGAAA	0.572													A	34002042	G	A	34002042	3	1	4	1	0	0	0	0	1	0	0	0	11728	1087	38	1	1312	1	PEPD	19	34002042	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	399368	34002042	25126941	4042	6107											
CHST8	64377	broad.mit.edu	37	chr19	34263263	34263263	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttcgtggaggaccgccaCcgcgtgctctactgcgaggt	13	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:34263263C>T	uc002nus.4	+	4	1075	c.570C>T	c.(568-570)caC>caT	p.H190H	CHST8_uc002nut.4_Silent_p.H190H|CHST8_uc002nuu.3_Silent_p.H190H	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	190					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					AGGACCGCCACCGCGTGCTCT	0.701													T	34263263	C	T	34263263	2	4	4	1	0	0	0	0	0	0	0	1	3410	506	18	4		4	CHST8	19	34263263	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	261221	34263263	24865720	4043	6108											
KIAA0355	9710	broad.mit.edu	37	chr19	34818453	34818453	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaactgaacataaaaatcgAcagtgctttgcaagtaagtt	8	6	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:34818453A>G	uc002nvd.4	+	3	1692	c.833A>G	c.(832-834)gAc>gGc	p.D278G		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	278								p.D278V(2)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					ATAAAAATCGACAGTGCTTTG	0.393													G	34818453	A	G	34818453	3	3	4	1	0	0	0	0	1	0	0	0	8170	275	10	3	843	3	KIAA0355	19	34818453	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	555190	34818453	24310530	4044	6109											
GPI	2821	broad.mit.edu	37	chr19	34856175	34856175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccttctagtcccgccatgGccgctctcacccgggacccc	8	20	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:34856175G>A	uc002nvf.3	+	1	291	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	GPI_uc010xrv.2_Missense_Mutation_p.A41T|GPI_uc002nvg.2_Missense_Mutation_p.A2T|GPI_uc010xrw.2_Missense_Mutation_p.A2T|GPI_uc002nvh.1_5'UTR	NM_000175	NP_000166	P06744	G6PI_HUMAN	Homo sapiens glucose-6-phosphate isomerase (GPI), transcript variant 2, mRNA.	2					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TCCCGCCATGGCCGCTCTCAC	0.682													A	34856175	G	A	34856175	3	1	4	1	0	0	0	0	1	0	0	0	6611	1203	42	2	127	2	GPI	19	34856175	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	37722	34856175	24272808	4045	6110											
ZNF599	148103	broad.mit.edu	37	chr19	35250659	35250659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggataaatgtggagcggtgCgtgaaggcctttccacattc	13	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:35250659C>T	uc010edn.1	-	3	1435	c.1047G>A	c.(1045-1047)acG>acA	p.T349T	ZNF599_uc010edm.2_Silent_p.T312T	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	Homo sapiens zinc finger protein 599 (ZNF599), mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TGGAGCGGTGCGTGAAGGCCT	0.423													T	35250659	C	T	35250659	2	4	4	1	0	0	0	0	0	0	0	1	18026	755	27	1		1	ZNF599	19	35250659	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	394484	35250659	23878324	4046	6111											
ZNF30	90075	broad.mit.edu	37	chr19	35434572	35434572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagaaaccatatgagtgCggggaatgtgggaaagcttt	16	4	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:35434572C>T	uc010edq.1	+	4	1083	c.705C>T	c.(703-705)tgC>tgT	p.C235C	ZNF30_uc002nxf.2_Silent_p.C153C|ZNF30_uc010edp.1_Silent_p.C234C|ZNF30_uc010edr.1_Silent_p.C235C	NM_001099437	NP_001092908	P17039	ZNF30_HUMAN	Homo sapiens zinc finger protein 30 (ZNF30), transcript variant 2, mRNA.	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CATATGAGTGCGGGGAATGTG	0.433													T	35434572	C	T	35434572	2	4	4	1	0	0	0	0	0	0	0	1	17827	776	27	1		1	ZNF30	19	35434572	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	183913	35434572	23694411	4047	6112											
ATP4A	495	broad.mit.edu	37	chr19	36050941	36050941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcgcccaatgatggtgcgGtcgcccgtgttcaccaccag	12	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:36050941G>A	uc002oal.1	-	6	851	c.822C>T	c.(820-822)gaC>gaT	p.D274D	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	274					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.G273G(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TGATGGTGCGGTCGCCCGTGT	0.647													A	36050941	G	A	36050941	2	1	4	1	0	0	0	0	0	0	0	1	1145	1252	44	4		4	ATP4A	19	36050941	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	616369	36050941	23078042	4048	6113											
RBM42	79171	broad.mit.edu	37	chr19	36120532	36120532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgatgcaggtcccagcggCtcctgtgatccgcccaatta	11	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:36120532C>T	uc002oan.3	+	1	315	c.239C>T	c.(238-240)gCt>gTt	p.A80V	RBM42_uc010xsx.2_Missense_Mutation_p.A80V|RBM42_uc002oap.3_Missense_Mutation_p.A80V|RBM42_uc002oaq.3_Missense_Mutation_p.A80V	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	Homo sapiens RNA binding motif protein 42 (RBM42), mRNA.	80						cytoplasm|nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GTCCCAGCGGCTCCTGTGATC	0.582													T	36120532	C	T	36120532	3	4	4	1	0	0	0	0	1	0	0	0	13136	797	28	2	245	2	RBM42	19	36120532	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	69591	36120532	23008451	4049	6114											
MLL2	8085	broad.mit.edu	37	chr19	36219029	36219029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgttcggctggttcgacGcccacgaccccaagtactgg	12	15	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:36219029G>A	uc021usv.1	+	18	4528	c.4528G>A	c.(4528-4530)Gcc>Acc	p.A1510T	MLL2_uc021usu.1_Missense_Mutation_p.A324T	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	0	Cys-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CTGGTTCGACGCCCACGACCC	0.627			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			A	36219029	G	A	36219029	3	1	4	1	0	0	0	0	1	0	0	0	9621	1087	38	1		1	MLL2	19	36219029	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	98497	36219029	22909954	4050	6115											
APLP1	333	broad.mit.edu	37	chr19	36362782	36362782	+	Frame_Shift_Del	DEL	C	C	-													acccctccacccggtcctggCccccggggagcagagtagag							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:36362781_36362781GC>G	uc002oce.3	+	5	831	c.693_693GC>G	c.(691-693)tggfs	p.W231fs	APLP1_uc010xsz.2_Frame_Shift_Del_p.W192fs|APLP1_uc002ocf.3_Frame_Shift_Del_p.W231fs|APLP1_uc002ocg.3_Frame_Shift_Del_p.W134fs|APLP1_uc010xta.2_Frame_Shift_Del_p.W225fs	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	231					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCGGTCCTGGCCCCCGGGGA	0.637													-	36362782	C	-	36362782	7	5	4	1	0	1	0	1	0	0	0	0	778	739	26	0	716	0	APLP1	19	36362782	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	143753	36362782	22766201	4051	6116											
WDR62	284403	broad.mit.edu	37	chr19	36556874	36556874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaggaagtctctcagtgCtctggccttctcccctgatg	9	16	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:36556874C>T	uc002odd.2	+	3	438	c.347C>T	c.(346-348)gCt>gTt	p.A116V	WDR62_uc002odc.2_Missense_Mutation_p.A116V|WDR62_uc002odb.2_Missense_Mutation_p.A116V	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	116					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCTCTCAGTGCTCTGGCCTTC	0.582													T	36556874	C	T	36556874	3	4	4	1	0	0	0	0	1	0	0	0	17310	797	28	2	361	2	WDR62	19	36556874	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	194092	36556874	22572109	4052	6117											
WDR62	284403	broad.mit.edu	37	chr19	36583697	36583697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacacaaatgacaagaagCggagtggccaccccaggtcc	11	13	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:36583697C>T	uc002odd.2	+	18	2408	c.2317C>T	c.(2317-2319)Cgg>Tgg	p.R773W	WDR62_uc002odc.2_Missense_Mutation_p.R773W	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	773					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGACAAGAAGCGGAGTGGCCA	0.627													T	36583697	C	T	36583697	3	4	4	1	0	0	0	0	1	0	0	0	17310	759	27	1	2391	1	WDR62	19	36583697	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	26823	36583697	22545286	4053	6118											
WDR62	284403	broad.mit.edu	37	chr19	36594764	36594764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccacggctctgcctttcGcccaagtctcccagctcctg	8	19	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:36594764G>A	uc002odd.2	+	29	4125	c.4034G>A	c.(4033-4035)cGc>cAc	p.R1345H	WDR62_uc002odc.2_Missense_Mutation_p.R1340H	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	1340					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCTGCCTTTCGCCCAAGTCTC	0.687													A	36594764	G	A	36594764	3	1	4	1	0	0	0	0	1	0	0	0	17310	1087	38	1	4152	1	WDR62	19	36594764	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	11067	36594764	22534219	4054	6119											
CAPNS1	826	broad.mit.edu	37	chr19	36634008	36634008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttggcattgacacatgtcGcagcatggtggccgtgatgg	14	8	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:36634008G>A	uc002odi.1	+	5	591	c.434G>A	c.(433-435)cGc>cAc	p.R145H	CAPNS1_uc002odk.3_Missense_Mutation_p.R145H|CAPNS1_uc002odj.3_Missense_Mutation_p.R145H|CAPNS1_uc002odl.3_Missense_Mutation_p.R145H	NM_001749	NP_001740	P04632	CPNS1_HUMAN	Homo sapiens calpain, small subunit 1 (CAPNS1), transcript variant 1, mRNA.	145	EF-hand 2.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GACACATGTCGCAGCATGGTG	0.522													A	36634008	G	A	36634008	3	1	4	1	0	0	0	0	1	0	0	0	2633	1087	38	1	452	1	CAPNS1	19	36634008	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	39244	36634008	22494975	4055	6120											
ZFP82	284406	broad.mit.edu	37	chr19	36884211	36884211	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcgcactctaaaggccttcCcgcattccttacattcatag	6	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:36884211C>A	uc002ody.1	-	4	1266	c.1031G>T	c.(1030-1032)gGg>gTg	p.G344V		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	Homo sapiens zinc finger protein 82 homolog (mouse) (ZFP82), mRNA.	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C343C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAAGGCCTTCCCGCATTCCTT	0.433													A	36884211	C	A	36884211	3	1	4	1	0	0	0	0	1	0	0	0	17650	623	22	5	571	5	ZFP82	19	36884211	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	250203	36884211	22244772	4056	6121											
ZNF382	84911	broad.mit.edu	37	chr19	37118277	37118277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaggagaaaaatccaatgGgtgtcctcagtgtgggaaag	13	6	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:37118277G>A	uc002oek.3	+	4	1591	c.1478G>A	c.(1477-1479)gGg>gAg	p.G493E	ZNF382_uc010efa.3_Missense_Mutation_p.G444E|ZNF382_uc010efb.3_Missense_Mutation_p.G492E|ZNF382_uc002oel.3_Missense_Mutation_p.G492E	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	Homo sapiens zinc finger protein 382 (ZNF382), mRNA.	493	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAATCCAATGGGTGTCCTCAG	0.443													A	37118277	G	A	37118277	3	1	4	1	0	0	0	0	1	0	0	0	17870	1232	43	4	1488	4	ZNF382	19	37118277	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	234066	37118277	22010706	4057	6122											
ZNF585A	199704	broad.mit.edu	37	chr19	37643373	37643373	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaatgagatttgaccggttGgtgaatgccttcccacattt	10	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:37643373G>A	uc002ofo.1	-	4	1659	c.1428C>T	c.(1426-1428)acC>acT	p.T476T	ZNF585A_uc002ofm.1_Silent_p.T421T|ZNF585A_uc002ofn.1_Silent_p.T421T	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTGACCGGTTGGTGAATGCCT	0.413													A	37643373	G	A	37643373	2	1	4	1	0	0	0	0	0	0	0	1	18014	1335	47	4		4	ZNF585A	19	37643373	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	525096	37643373	21485610	4058	6123											
ZNF570	148268	broad.mit.edu	37	chr19	37966838	37966838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccaagaggaatgggattGtctggattcttctcaaagac	10	9	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:37966838G>A	uc010efl.1	+	3	376	c.257G>A	c.(256-258)tGt>tAt	p.C86Y	ZNF570_uc002ogk.1_Missense_Mutation_p.C30Y|ZNF570_uc010xtr.1_5'UTR	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAATGGGATTGTCTGGATTCT	0.408													A	37966838	G	A	37966838	3	1	4	1	0	0	0	0	1	0	0	0	17999	1377	48	4	95	4	ZNF570	19	37966838	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	323465	37966838	21162145	4059	6124											
SIPA1L3	23094	broad.mit.edu	37	chr19	38590640	38590640	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatcctggaagatgctacGcccacagccaccaagcatgg	9	15	0	1	rs142598144		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:38590640G>A	uc002ohk.3	+	4	2213	c.1704G>A	c.(1702-1704)acG>acA	p.T568T		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	568					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAGATGCTACGCCCACAGCCA	0.607													A	38590640	G	A	38590640	2	1	4	1	0	0	0	0	0	0	0	1	14331	1074	38	1		1	SIPA1L3	19	38590640	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	623802	38590640	20538343	4060	6125											
SIPA1L3	23094	broad.mit.edu	37	chr19	38600928	38600928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcttccaggagcctggcgCgctaccgttcacccccaaga	9	17	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:38600928C>T	uc002ohk.3	+	7	2704	c.2195C>T	c.(2194-2196)gCg>gTg	p.A732V		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	732	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.A732A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GAGCCTGGCGCGCTACCGTTC	0.547													T	38600928	C	T	38600928	3	4	4	1	0	0	0	0	1	0	0	0	14331	768	27	1	2217	1	SIPA1L3	19	38600928	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	10288	38600928	20528055	4061	6126											
YIF1B	90522	broad.mit.edu	37	chr19	38799966	38799966	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgatggggatgaagcggtcGatctggggaggcagagctca	19	6	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:38799966G>A	uc002ohz.2	-	2	349	c.300C>T	c.(298-300)atC>atT	p.I100I	YIF1B_uc002ohw.2_Silent_p.I69I|YIF1B_uc002ohx.2_Silent_p.I85I|YIF1B_uc010xtx.1_Silent_p.I83I|YIF1B_uc010xty.1_Silent_p.I69I|YIF1B_uc002oia.2_Silent_p.I97I|YIF1B_uc002ohy.2_Silent_p.I97I|YIF1B_uc002oib.3_Silent_p.I97I	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Homo sapiens Yip1 interacting factor homolog B (S. cerevisiae) (YIF1B), transcript variant 5, mRNA.	100						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGAAGCGGTCGATCTGGGGAG	0.587													A	38799966	G	A	38799966	2	1	4	1	0	0	0	0	0	0	0	1	17473	1048	37	1		1	YIF1B	19	38799966	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	199038	38799966	20329017	4062	6127											
FAM98C	147965	broad.mit.edu	37	chr19	38895587	38895587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagccacccgcctcctgtGcctccgctctctgctggatc	8	20	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:38895587G>A	uc002oin.1	+	3	408	c.389G>A	c.(388-390)tGc>tAc	p.C130Y	FAM98C_uc002oio.1_Missense_Mutation_p.C130Y|FAM98C_uc010xtz.1_Intron	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Homo sapiens family with sequence similarity 98, member C (FAM98C), mRNA.	130										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGCCTCCTGTGCCTCCGCTCT	0.592													A	38895587	G	A	38895587	3	1	4	1	0	0	0	0	1	0	0	0	5658	1319	46	2	403	2	FAM98C	19	38895587	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	95621	38895587	20233396	4063	6128											
RYR1	6261	broad.mit.edu	37	chr19	38945909	38945909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcctgaattgcatagaccGcctaaatgtctacaccactg	8	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:38945909G>A	uc002oit.3	+	13	1605	c.1475G>A	c.(1474-1476)cGc>cAc	p.R492H	RYR1_uc002oiu.3_Missense_Mutation_p.R492H	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	492					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGCATAGACCGCCTAAATGTC	0.502													A	38945909	G	A	38945909	3	1	4	1	0	0	0	0	1	0	0	0	13768	1087	38	1	1529	1	RYR1	19	38945909	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	50322	38945909	20183074	4064	6129											
RYR1	6261	broad.mit.edu	37	chr19	38958369	38958369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcaccacaggcgagatgCgcgtgggctgggcgaggccc	17	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:38958369C>T	uc002oit.3	+	24	3428	c.3298C>T	c.(3298-3300)Cgc>Tgc	p.R1100C	RYR1_uc002oiu.3_Missense_Mutation_p.R1100C	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1100	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGCGAGATGCGCGTGGGCTG	0.622													T	38958369	C	T	38958369	3	4	4	1	0	0	0	0	1	0	0	0	13768	768	27	1	3396	1	RYR1	19	38958369	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	12460	38958369	20170614	4065	6130											
RYR1	6261	broad.mit.edu	37	chr19	38976521	38976521	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctcacgcctgagacccgCgccatcacgctcttccctcc	6	23	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:38976521C>T	uc002oit.3	+	33	5356	c.5226C>T	c.(5224-5226)cgC>cgT	p.R1742R	RYR1_uc002oiu.3_Silent_p.R1742R	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1742	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGAGACCCGCGCCATCACGC	0.627													T	38976521	C	T	38976521	2	4	4	1	0	0	0	0	0	0	0	1	13768	755	27	1		1	RYR1	19	38976521	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	18152	38976521	20152462	4066	6131											
RYR1	6261	broad.mit.edu	37	chr19	39052042	39052042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtcacgccgcatcgagcGcatctacttcgagatctcag	10	15	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:39052042G>A	uc002oit.3	+	89	12702	c.12572G>A	c.(12571-12573)cGc>cAc	p.R4191H	RYR1_uc002oiu.3_Missense_Mutation_p.R4186H|RYR1_uc002oiv.1_Missense_Mutation_p.R1100H	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4191					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGCATCGAGCGCATCTACTTC	0.657													A	39052042	G	A	39052042	3	1	4	1	0	0	0	0	1	0	0	0	13768	1087	38	1	12930	1	RYR1	19	39052042	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	75521	39052042	20076941	4067	6132											
MAP4K1	11184	broad.mit.edu	37	chr19	39104547	39104547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcccaatgaaagagaggCgtctggccagtgtagcccca	13	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:39104547C>T	uc002oix.1	-	7	614	c.506G>A	c.(505-507)cGc>cAc	p.R169H	MAP4K1_uc002oiy.1_Missense_Mutation_p.R169H|MAP4K1_uc010xug.2_5'UTR	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	169	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAAAGAGAGGCGTCTGGCCAG	0.622													T	39104547	C	T	39104547	3	4	4	1	0	0	0	0	1	0	0	0	9259	768	27	1	2157	1	MAP4K1	19	39104547	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	52505	39104547	20024436	4068	6133											
CAPN12	147968	broad.mit.edu	37	chr19	39229238	39229238	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgcccgtgatggaataCgcgtgtccctttaccaggcc	12	12	0	1	rs148191501	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:39229238C>T	uc002ojd.1	-	5	1089	c.780G>A	c.(778-780)gcG>gcA	p.A260A	CAPN12_uc002ojc.1_5'Flank	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Homo sapiens calpain 12 (CAPN12), mRNA.	260	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TGATGGAATACGCGTGTCCCT	0.627													T	39229238	C	T	39229238	2	4	4	1	0	0	0	0	0	0	0	1	2625	523	19	1		1	CAPN12	19	39229238	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	124691	39229238	19899745	4069	6134											
NFKBIB	4793	broad.mit.edu	37	chr19	39399417	39399417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagccgcagccaaacccGgctgcctcccaccccagcct	8	22	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:39399417G>A	uc002ojw.3	+	5	1119	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	NFKBIB_uc010egk.2_Missense_Mutation_p.R253Q|NFKBIB_uc002ojx.3_3'UTR|NFKBIB_uc002ojy.3_3'UTR	NM_002503	NP_001230045	Q15653	IKBB_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta (NFKBIB), transcript variant 1, mRNA.	339			R -> W (in dbSNP:rs17886215).		MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AGCCAAACCCGGCTGCCTCCC	0.547													A	39399417	G	A	39399417	3	1	4	1	0	0	0	0	1	0	0	0	10378	1116	39	1	1086	1	NFKBIB	19	39399417	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	170179	39399417	19729566	4070	6135											
FBXO27	126433	broad.mit.edu	37	chr19	39516156	39516156	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgttcgaaagacacaaaGcggacgcccatcttgatgtt	11	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:39516156G>A	uc002okh.3	-	5	829	c.747C>T	c.(745-747)cgC>cgT	p.R249R		NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	Homo sapiens F-box protein 27 (FBXO27), mRNA.	249	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AAGACACAAAGCGGACGCCCA	0.587													A	39516156	G	A	39516156	2	1	4	1	0	0	0	0	0	0	0	1	5737	958	34	2		2	FBXO27	19	39516156	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	116739	39516156	19612827	4071	6136											
PAPL	390928	broad.mit.edu	37	chr19	39590899	39590899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaacctggatcaggacaacGcccgtgttggggataggttc	13	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:39590899G>A	uc002oki.3	+	4	812	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	PAPL_uc010egl.3_Intron	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	180						extracellular region	acid phosphatase activity|metal ion binding										TCAGGACAACGCCCGTGTTGG	0.587													A	39590899	G	A	39590899	3	1	4	1	0	0	0	0	1	0	0	0	11427	1087	38	1	552	1	PAPL	19	39590899	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	74743	39590899	19538084	4072	6137											
SAMD4B	55095	broad.mit.edu	37	chr19	39871413	39871413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagccccagccttggaggCcagggccgacaggtaagctg	14	14	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:39871413C>T	uc002olb.3	+	12	2871	c.1836C>T	c.(1834-1836)ggC>ggT	p.G612G	SAMD4B_uc002ola.3_Silent_p.G612G	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Homo sapiens sterile alpha motif domain containing 4B (SAMD4B), mRNA.	612							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GCCTTGGAGGCCAGGGCCGAC	0.677													T	39871413	C	T	39871413	2	4	4	1	0	0	0	0	0	0	0	1	13822	726	26	2		2	SAMD4B	19	39871413	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	280514	39871413	19257570	4073	6138											
SUPT5H	6829	broad.mit.edu	37	chr19	39949669	39949669	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgagaagaagaactgggCgagtattacatgaagaaata	12	5	0	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:39949669C>T	uc002olo.4	+	6	593	c.414C>T	c.(412-414)ggC>ggT	p.G138G	SUPT5H_uc002olp.4_Silent_p.G138G|SUPT5H_uc002olq.4_Silent_p.G134G|SUPT5H_uc002oln.4_Silent_p.G138G|SUPT5H_uc002olr.4_Silent_p.G138G	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	138					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AAGAACTGGGCGAGTATTACA	0.567													T	39949669	C	T	39949669	2	4	4	1	0	0	0	0	0	0	0	1	15396	755	27	1		1	SUPT5H	19	39949669	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	78256	39949669	19179314	4074	6139											
PSMC4	5704	broad.mit.edu	37	chr19	40486604	40486604	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataagatttcaggagctgatAttaactccatctgtcaggag	9	7	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:40486604A>G	uc002omq.3	+	9	1160	c.1123A>G	c.(1123-1125)Att>Gtt	p.I375V	PSMC4_uc002omr.3_Missense_Mutation_p.I344V	NM_006503	NP_006494	P43686	PRS6B_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA.	375					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGGAGCTGATATTAACTCCAT	0.522													G	40486604	A	G	40486604	3	3	4	1	0	0	0	0	1	0	0	0	12689	449	16	3	1161	3	PSMC4	19	40486604	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	536935	40486604	18642379	4075	6140											
ZNF780B	163131	broad.mit.edu	37	chr19	40541185	40541185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactccttacattcatagggCttctcaccagtgtgaatact	6	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:40541185C>T	uc002omu.3	-	4	1646	c.1581G>A	c.(1579-1581)aaG>aaA	p.K527K	ZNF780B_uc002omv.3_Silent_p.K379K	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATTCATAGGGCTTCTCACCAG	0.423													T	40541185	C	T	40541185	2	4	4	1	0	0	0	0	0	0	0	1	18150	796	28	2		2	ZNF780B	19	40541185	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	54581	40541185	18587798	4076	6141											
AKT2	208	broad.mit.edu	37	chr19	40747910	40747910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggccagtggccttctcccGcaccaggatgactttgccaa	11	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:40747910G>A	uc002onf.3	-	5	807	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	AKT2_uc010egs.3_Missense_Mutation_p.R170W|AKT2_uc010xvj.2_Missense_Mutation_p.R108W|AKT2_uc010egt.3_Missense_Mutation_p.R108W|AKT2_uc010egu.2_Missense_Mutation_p.R108W|AKT2_uc010xvk.1_Missense_Mutation_p.R170W|AKT2_uc002one.3_Missense_Mutation_p.R66W	NM_001626	NP_001229957	P31751	AKT2_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA.	170	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.R170R(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GCCTTCTCCCGCACCAGGATG	0.587			A		"ovarian, pancreatic "								A	40747910	G	A	40747910	3	1	4	1	0	0	0	0	1	0	0	0	480	1086	38	1	973	1	AKT2	19	40747910	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	206725	40747910	18381073	4077	6142											
HIPK4	147746	broad.mit.edu	37	chr19	40889788	40889788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtggtgggccttgcaggCggcgtgcaacaggtgtggct	19	8	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:40889788C>T	uc002onp.3	-	1	1009	c.724G>A	c.(724-726)Gcc>Acc	p.A242T		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	242	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GCCTTGCAGGCGGCGTGCAAC	0.647													T	40889788	C	T	40889788	3	4	4	1	0	0	0	0	1	0	0	0	7119	768	27	1	1138	1	HIPK4	19	40889788	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	141878	40889788	18239195	4078	6143											
HIPK4	147746	broad.mit.edu	37	chr19	40895719	40895719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatctcgcccgtgctccGccgccagcccttggctacct	8	21	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:40895719G>A	uc002onp.3	-	0	376	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	31	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity	p.R31Q(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCCGTGCTCCGCCGCCAGCCC	0.607													A	40895719	G	A	40895719	3	1	4	1	0	0	0	0	1	0	0	0	7119	1086	38	1	1775	1	HIPK4	19	40895719	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5931	40895719	18233264	4079	6144											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41810156	41810156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaccgtcagcagctacaGccctccacaggtgagagaat	9	16	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:41810156G>A	uc002oqb.4	+	12	2541	c.2252G>A	c.(2251-2253)aGc>aAc	p.S751N	HNRNPUL1_uc002opz.4_Missense_Mutation_p.S651N|HNRNPUL1_uc002oqa.4_Missense_Mutation_p.S651N|HNRNPUL1_uc010ehm.3_Missense_Mutation_p.S751N|HNRNPUL1_uc002oqc.4_Missense_Mutation_p.S637N|HNRNPUL1_uc002oqe.4_Intron|HNRNPUL1_uc002oqd.4_Missense_Mutation_p.S651N|HNRNPUL1_uc010ehn.3_Missense_Mutation_p.S651N|HNRNPUL1_uc010xvy.2_Missense_Mutation_p.S651N|HNRNPUL1_uc010ehp.3_Missense_Mutation_p.S607N|HNRNPUL1_uc002oqf.4_Missense_Mutation_p.S275N	NM_007040	NP_653333	Q9BUJ2	HNRL1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 1 (HNRNPUL1), transcript variant 1, mRNA.	751	Necessary for interaction with TP53.|Pro-rich.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AGCAGCTACAGCCCTCCACAG	0.557													A	41810156	G	A	41810156	3	1	4	1	0	0	0	0	1	0	0	0	7274	971	34	2	2302	2	HNRNPUL1	19	41810156	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	914437	41810156	17318827	4080	6145											
BCKDHA	593	broad.mit.edu	37	chr19	41884222	41884222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccccaaagccatggacaGccctagtcttcgtgagcttc	8	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:41884222G>A	uc002oqm.4	+	1	359	c.8G>A	c.(7-9)aGc>aAc	p.S3N	BCKDHA_uc002oqi.3_Missense_Mutation_p.S3N|BCKDHA_uc010ehq.3_Missense_Mutation_p.S3N|BCKDHA_uc010ehr.3_Missense_Mutation_p.S3N|BCKDHA_uc002oqk.4_Missense_Mutation_p.S3N|BCKDHA_uc010eht.3_Missense_Mutation_p.S3N|BCKDHA_uc010ehs.3_Missense_Mutation_p.S3N|BCKDHA_uc002oqn.3_Missense_Mutation_p.S3N	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0				V -> G (in Ref. 4; AAB20222/AAB19268).	branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GCCATGGACAGCCCTAGTCTT	0.552													A	41884222	G	A	41884222	3	1	4	1	0	0	0	0	1	0	0	0	1359	971	34	2		2	BCKDHA	19	41884222	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	74066	41884222	17244761	4081	6146											
BCKDHA	593	broad.mit.edu	37	chr19	41916541	41916541	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctctgctctcttccccaGcacccccccaggcagcagca	6	22	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:41916541G>A	uc002oqq.3	+	2	148	c.109_splice	c.e2-1	p.H37_splice	BCKDHA_uc002oqm.4_Splice_Site_p.H71_splice|BCKDHA_uc002oqp.2_Splice_Site|BCKDHA_uc002oqr.3_Splice_Site_p.H37_splice|BCKDHA_uc010xvz.2_Intron	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	37					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CTCTTCCCCAGCACCCCCCCA	0.607													A	41916541	G	A	41916541	5	1	4	1	0	0	0	0	0	0	1	0	1359	985	34	2	114	2	BCKDHA	19	41916541	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	32319	41916541	17212442	4082	6147											
CEACAM6	4680	broad.mit.edu	37	chr19	42259553	42259553	+	Frame_Shift_Del	DEL	C	C	-													agacagcagagaccatgggaCccccctcagcccctccctgc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:42259552_42259552AC>A	uc002orm.2	+	0	155	c.6_6AC>A	c.(4-6)ggafs	p.G2fs		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	2					cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		p.M1I(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AGACCATGGGACCCCCCTCAG	0.612													-	42259553	C	-	42259553	7	5	4	1	0	1	0	1	0	0	0	0	3196	507	18	0	9	0	CEACAM6	19	42259553	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	343012	42259553	16869430	4083	6148											
CEACAM3	1084	broad.mit.edu	37	chr19	42314895	42314895	+	Frame_Shift_Del	DEL	C	C	-													ccctctctccactgcccaggCccccctacccaaccccagga							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:42314894_42314894GC>G	uc002orn.1	+	5	728	c.652_652GC>G	c.(652-654)gccfs	p.A218fs	CEACAM3_uc010eia.1_Frame_Shift_Del_p.G200fs|CEACAM3_uc002oro.1_Non-coding_Transcript	NM_001815	NP_001806	P40198	CEAM3_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 3 (CEACAM3), mRNA.	218						integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CACTGCCCAGGCCCCCCTACC	0.612													-	42314895	C	-	42314895	7	5	4	1	0	1	0	1	0	0	0	0	3193	739	26	0	675	0	CEACAM3	19	42314895	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	55342	42314895	16814088	4084	6149											
CD79A	973	broad.mit.edu	37	chr19	42383170	42383170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagcagcaacaacgccaacGtcacctggtggcgcgtcctc	10	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:42383170G>A	uc002orv.3	+	1	375	c.190G>A	c.(190-192)Gtc>Atc	p.V64I	CD79A_uc002oru.3_Missense_Mutation_p.V64I	NM_001783	NP_001774	P11912	CD79A_HUMAN	Homo sapiens CD79a molecule, immunoglobulin-associated alpha (CD79A), transcript variant 1, mRNA.	64	Ig-like C2-type.				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						CAACGCCAACGTCACCTGGTG	0.602			"O, S"		DLBCL								A	42383170	G	A	42383170	3	1	4	1	0	0	0	0	1	0	0	0	3036	1145	40	1	196	1	CD79A	19	42383170	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	68275	42383170	16745813	4085	6150											
ARHGEF1	9138	broad.mit.edu	37	chr19	42409386	42409386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccctgcccctgcctctcGccctaagccccggcccagcc	8	23	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:42409386G>A	uc002orx.3	+	23	2418	c.2309G>A	c.(2308-2310)cGc>cAc	p.R770H	ARHGEF1_uc002ory.3_Missense_Mutation_p.R737H|ARHGEF1_uc002orz.3_Missense_Mutation_p.R608H|ARHGEF1_uc002osa.3_Missense_Mutation_p.R785H|ARHGEF1_uc002osb.3_Missense_Mutation_p.R752H|ARHGEF1_uc002osc.3_Missense_Mutation_p.R524H|ARHGEF1_uc002osd.3_Missense_Mutation_p.R429H	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 1 (ARHGEF1), transcript variant 2, mRNA.	770					Rho protein signal transduction|cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCTGCCTCTCGCCCTAAGCCC	0.667													A	42409386	G	A	42409386	3	1	4	1	0	0	0	0	1	0	0	0	893	1087	38	1	2448	1	ARHGEF1	19	42409386	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	26216	42409386	16719597	4086	6151											
ZNF574	64763	broad.mit.edu	37	chr19	42584239	42584239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcatcggctggagcggcGccataaatgcagcatttgtg	14	9	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:42584239G>A	uc002osk.4	+	1	1986	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H	ZNF574_uc002osm.4_Missense_Mutation_p.R494H|ZNF574_uc021uva.1_Missense_Mutation_p.R494H	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	Homo sapiens zinc finger protein 574 (ZNF574), mRNA.	494					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CTGGAGCGGCGCCATAAATGC	0.602													A	42584239	G	A	42584239	3	1	4	1	0	0	0	0	1	0	0	0	18003	1087	38	1	1483	1	ZNF574	19	42584239	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	174853	42584239	16544744	4087	6152											
DEDD2	162989	broad.mit.edu	37	chr19	42703764	42703764	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagggcctgcagcagggcGccactcaggtagtcgcccca	14	16	1	0	rs17852469	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:42703764G>A	uc002osu.1	-	4	875	c.807C>T	c.(805-807)ggC>ggT	p.G269G	DEDD2_uc002osv.1_Non-coding_Transcript|DEDD2_uc002osw.1_Silent_p.G264G	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN	Homo sapiens death effector domain containing 2 (DEDD2), mRNA.	269					RNA processing|activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				GCAGCAGGGCGCCACTCAGGT	0.647													A	42703764	G	A	42703764	2	1	4	1	0	0	0	0	0	0	0	1	4385	1074	38	1		1	DEDD2	19	42703764	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	119525	42703764	16425219	4088	6153											
ZNF526	116115	broad.mit.edu	37	chr19	42729380	42729380	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggctgggctcagggctgCggggactgtccccagcacca	16	14	1	0	rs138082392	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:42729380C>T	uc002osz.1	+	2	981	c.825C>T	c.(823-825)tgC>tgT	p.C275C	ZNF526_uc021uvc.1_Silent_p.C275C	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	Homo sapiens zinc finger protein 526 (ZNF526), mRNA.	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CTCAGGGCTGCGGGGACTGTC	0.657													T	42729380	C	T	42729380	2	4	4	1	0	0	0	0	0	0	0	1	17964	776	27	1		1	ZNF526	19	42729380	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	25616	42729380	16399603	4089	6154											
GSK3A	2931	broad.mit.edu	37	chr19	42737272	42737272	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgccccacctttgtccagGggtgagctttaatctgaggg	12	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:42737272G>T	uc002otb.1	-	7	1207	c.1088C>A	c.(1087-1089)cCc>cAc	p.P363H	GSK3A_uc002ota.1_Missense_Mutation_p.P281H	NM_019884	NP_063937	P49840	GSK3A_HUMAN	Homo sapiens glycogen synthase kinase 3 alpha (GSK3A), mRNA.	363	Protein kinase.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CTTTGTCCAGGGGTGAGCTTT	0.557													T	42737272	G	T	42737272	3	4	4	1	0	0	0	0	1	0	0	0	6823	1232	43	5	379	5	GSK3A	19	42737272	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	7892	42737272	16391711	4090	6155											
ERF	2077	broad.mit.edu	37	chr19	42753169	42753169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaagaagaagaggatgaCgaggccgaggaggggaccgg	20	5	0	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:42753169C>T	uc002ote.4	-	3	1253	c.1095G>A	c.(1093-1095)tcG>tcA	p.S365S	ERF_uc002otd.4_Silent_p.S96S	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	365	Poly-Ser.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				AAGAGGATGACGAGGCCGAGG	0.687													T	42753169	C	T	42753169	2	4	4	1	0	0	0	0	0	0	0	1	5221	523	19	1		1	ERF	19	42753169	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	15897	42753169	16375814	4091	6156											
CIC	23152	broad.mit.edu	37	chr19	42797777	42797777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctcatcttcagactggCgcgtccctgggcagggcctg	13	15	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:42797777C>T	uc002otf.1	+	15	3869	c.3829C>T	c.(3829-3831)Cgc>Tgc	p.R1277C		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1277	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTCAGACTGGCGCGTCCCTGG	0.652			"Mis, F, S"		oligodendroglioma								T	42797777	C	T	42797777	3	4	4	1	0	0	0	0	1	0	0	0	3424	768	27	1	3891	1	CIC	19	42797777	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	44608	42797777	16331206	4092	6157											
PRR19	284338	broad.mit.edu	37	chr19	42814738	42814738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctggggggttggcctccCtcagcccctgcctcagcctt	12	18	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:42814738C>T	uc002oti.3	+	2	1295	c.917C>T	c.(916-918)cCt>cTt	p.P306L	PRR19_uc002oth.1_3'UTR|PRR19_uc002otj.3_Missense_Mutation_p.P306L|TMEM145_uc002otk.1_5'Flank	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	Homo sapiens proline rich 19 (PRR19), mRNA.	306	Pro-rich.									NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GTTGGCCTCCCTCAGCCCCTG	0.652													T	42814738	C	T	42814738	3	4	4	1	0	0	0	0	1	0	0	0	12591	681	24	4	923	4	PRR19	19	42814738	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	16961	42814738	16314245	4093	6158											
PSG7	5676	broad.mit.edu	37	chr19	43439709	43439709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcatccactgtatgcagGcccatatttaattatttgac	5	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:43439709G>A	uc002ovl.4	-	1	379	c.277C>T	c.(277-279)Cct>Tct	p.P93S	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	93	Ig-like V-type.				female pregnancy	extracellular region							Prostate(69;0.00682)				CTGTATGCAGGCCCATATTTA	0.408													A	43439709	G	A	43439709	3	1	4	1	0	0	0	0	1	0	0	0	12660	1203	42	2	1002	2	PSG7	19	43439709	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	624971	43439709	15689274	4094	6159											
XRCC1	7515	broad.mit.edu	37	chr19	44056177	44056177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcaagcctacatgaggtgCgtgctgtcccgggtccagtc	14	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:44056177C>T	uc002owt.2	-	8	1194	c.1074G>A	c.(1072-1074)acG>acA	p.T358T	XRCC1_uc010xwp.1_Silent_p.T327T	NM_006297	NP_006288	P18887	XRCC1_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.	358	BRCT 1.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				ACATGAGGTGCGTGCTGTCCC	0.627								Other BER factors					T	44056177	C	T	44056177	2	4	4	1	0	0	0	0	0	0	0	1	17449	755	27	1		1	XRCC1	19	44056177	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	616468	44056177	15072806	4095	6160											
ZNF230	7773	broad.mit.edu	37	chr19	44513032	44513032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggaagctgtaccaagacGtgatgcttgagaacttcacg	12	8	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:44513032G>A	uc002oyb.1	+	2	357	c.106G>A	c.(106-108)Gtg>Atg	p.V36M		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	Homo sapiens zinc finger protein 230 (ZNF230), mRNA.	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GTACCAAGACGTGATGCTTGA	0.527													A	44513032	G	A	44513032	3	1	4	1	0	0	0	0	1	0	0	0	17781	1145	40	1	112	1	ZNF230	19	44513032	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	456855	44513032	14615951	4096	6161											
ZNF234	10780	broad.mit.edu	37	chr19	44661004	44661004	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttcccatcttcaggaacatCagagaattcatactggggag	9	10	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:44661004C>T	uc002oym.3	+	5	1142	c.835C>T	c.(835-837)Cag>Tag	p.Q279*	ZNF234_uc002oyl.4_Nonsense_Mutation_p.Q279*	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCAGGAACATCAGAGAATTCA	0.413													T	44661004	C	T	44661004	4	4	4	1	0	0	0	0	0	1	0	0	17784	827	29	4	849	4	ZNF234	19	44661004	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	147972	44661004	14467979	4097	6162											
ZNF233	353355	broad.mit.edu	37	chr19	44778756	44778756	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatactggagagaaaccatAcaaatgttttgtgtgtggta	10	6	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:44778756A>G	uc021uvi.1	+	4	2049	c.1943A>G	c.(1942-1944)tAc>tGc	p.Y648C	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_Missense_Mutation_p.Y463C|ZNF233_uc002oyz.2_Missense_Mutation_p.Y648C	NM_001207005	NP_001193934	A6NK53	ZN233_HUMAN	Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA.	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GAGAAACCATACAAATGTTTT	0.418													G	44778756	A	G	44778756	3	3	4	1	0	0	0	0	1	0	0	0	17783	391	14	3	1957	3	ZNF233	19	44778756	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	117752	44778756	14350227	4098	6163											
ZNF180	7733	broad.mit.edu	37	chr19	44981225	44981225	+	Frame_Shift_Del	DEL	T	T	-													cactgattgcattcatagggTttttccccagtatgaattct							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:44981224_44981224GT>G	uc002ozf.4	-	4	1756	c.1474_1474AC>C	c.(1474-1476)cccfs	p.P492fs	ZNF180_uc002ozh.4_Frame_Shift_Del_p.P149fs|ZNF180_uc002ozi.4_Frame_Shift_Del_p.P465fs|ZNF180_uc002ozg.4_Frame_Shift_Del_p.P491fs|ZNF180_uc010ejm.3_Frame_Shift_Del_p.P467fs	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CATTCATAGGGTTTTTCCCCA	0.368													-	44981225	T	-	44981225	7	5	4	1	0	1	0	1	0	0	0	0	17745	1722	60	0	609	0	ZNF180	19	44981225	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	202469	44981225	14147758	4099	6164											
CBLC	23624	broad.mit.edu	37	chr19	45284250	45284250	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggaaagtactgtggacacAtgtaccagctcaccaaggcc	12	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:45284250A>C	uc002ozs.3	+	1	505	c.442A>C	c.(442-444)Atg>Ctg	p.M148L	CBLC_uc010ejt.3_Missense_Mutation_p.M148L	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	148	Cbl-PTB.|EF-hand-like.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.M148R(1)		breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CTGTGGACACATGTACCAGCT	0.632			M		AML								C	45284250	A	C	45284250	3	2	4	1	0	0	0	0	1	0	0	0	2702	217	8	5	448	5	CBLC	19	45284250	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	303025	45284250	13844733	4100	6165											
BCAM	4059	broad.mit.edu	37	chr19	45316510	45316510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgtgtctgcctcagatcGccacctgcaacagccggaac	10	17	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:45316510G>A	uc002ozu.3	+	4	552	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	BCAM_uc002ozt.1_Missense_Mutation_p.A170T	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	170	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GCCTCAGATCGCCACCTGCAA	0.642													A	45316510	G	A	45316510	3	1	4	1	0	0	0	0	1	0	0	0	1344	1087	38	1	526	1	BCAM	19	45316510	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	32260	45316510	13812473	4101	6166											
CD3EAP	10849	broad.mit.edu	37	chr19	45911872	45911872	+	Frame_Shift_Del	DEL	A	A	-													atgtgcggaagaagaagaagAaaaaaaatcagcagctgaaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:45911871_45911871GA>G	uc002pbr.1	+	2	657	c.651_651GA>G	c.(649-651)aagfs	p.K217fs	PPP1R13L_uc002pbo.3_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbq.1_Frame_Shift_Del_p.K215fs|ERCC1_uc002pbt.2_3'UTR|ERCC1_uc002pbs.2_3'UTR|ERCC1_uc002pbu.2_3'UTR	NM_012099	NP_036231	O15446	RPA34_HUMAN	Homo sapiens CD3e molecule, epsilon associated protein (CD3EAP), mRNA.	215	Poly-Lys.				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	RNA polymerase I transcription factor complex|chromosome	DNA-directed RNA polymerase activity	p.K215N(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		AGAAGAAGAAGAAAAAAAATC	0.587													-	45911872	A	-	45911872	7	5	4	1	0	1	0	1	0	0	0	0	3012	247	9	0	656	0	CD3EAP	19	45911872	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	595362	45911872	13217111	4102	6167											
OPA3	80207	broad.mit.edu	37	chr19	46032371	46032371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgggtctcggaggcagagGtgggctcgcacctcctgcag	18	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:46032371G>A	uc002pcj.4	-	1	586	c.486C>T	c.(484-486)caC>caT	p.H162H		NM_001017989	NP_001017989	Q9H6K4	OPA3_HUMAN	Homo sapiens optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) (OPA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	162					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		GGAGGCAGAGGTGGGCTCGCA	0.701													A	46032371	G	A	46032371	2	1	4	1	0	0	0	0	0	0	0	1	10872	1252	44	4		4	OPA3	19	46032371	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	120499	46032371	13096612	4103	6168											
STRN4	29888	broad.mit.edu	37	chr19	47225261	47225261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcctgacatcaggaatgCgccgttggggtccacggcta	12	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:47225261C>T	uc002pfm.3	-	15	2128	c.2095G>A	c.(2095-2097)Gca>Aca	p.A699T	STRN4_uc002pfl.3_Missense_Mutation_p.A692T|STRN4_uc010xyf.2_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	692						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		ATCAGGAATGCGCCGTTGGGG	0.627													T	47225261	C	T	47225261	3	4	4	1	0	0	0	0	1	0	0	0	15330	768	27	1	195	1	STRN4	19	47225261	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1192890	47225261	11903722	4104	6169											
C5AR1	728	broad.mit.edu	37	chr19	47823356	47823356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggccctttggcggggccGcctgcagcatcctgccctcc	12	18	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:47823356G>A	uc002pgj.1	+	1	371	c.322G>A	c.(322-324)Gcc>Acc	p.A108T		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	108					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	p.A108T(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TGGCGGGGCCGCCTGCAGCAT	0.607													A	47823356	G	A	47823356	3	1	4	1	0	0	0	0	1	0	0	0	2281	1087	38	1	327	1	C5AR1	19	47823356	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	598095	47823356	11305627	4105	6170											
DHX34	9704	broad.mit.edu	37	chr19	47876049	47876049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgctcaccatcgcagccGcacttagcgtccagtcgccc	9	18	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:47876049G>A	uc010xyn.2	+	7	2180	c.1831G>A	c.(1831-1833)Gca>Aca	p.A611T	DHX34_uc010elc.1_Missense_Mutation_p.A526T	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	611						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CATCGCAGCCGCACTTAGCGT	0.687													A	47876049	G	A	47876049	3	1	4	1	0	0	0	0	1	0	0	0	4507	1087	38	1	1857	1	DHX34	19	47876049	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	52693	47876049	11252934	4106	6171											
DHX34	9704	broad.mit.edu	37	chr19	47884536	47884536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacgcccctggagcgcatcGcccatgagaacacctgcccc	9	19	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:47884536G>A	uc010xyn.2	+	15	3602	c.3253G>A	c.(3253-3255)Gcc>Acc	p.A1085T	DHX34_uc010xyo.1_Missense_Mutation_p.A214T	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	1085						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GGAGCGCATCGCCCATGAGAA	0.672													A	47884536	G	A	47884536	3	1	4	1	0	0	0	0	1	0	0	0	4507	1087	38	1	3311	1	DHX34	19	47884536	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	8487	47884536	11244447	4107	6172											
NAPA	8775	broad.mit.edu	37	chr19	47995277	47995277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggggtgtgctaccttggCgttgagcatgtcgatgcaga	16	8	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:47995277C>T	uc002phd.2	-	7	979	c.661G>A	c.(661-663)Gcc>Acc	p.A221T	LOC100505681_uc021uwo.1_Intron|NAPA_uc002pha.2_Missense_Mutation_p.A221T|NAPA_uc002phc.2_Missense_Mutation_p.A108T	NM_003827	NP_003818	P54920	SNAA_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, alpha (NAPA), transcript variant 1, mRNA.	221					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		GCTACCTTGGCGTTGAGCATG	0.627													T	47995277	C	T	47995277	3	4	4	1	0	0	0	0	1	0	0	0	10161	768	27	1	242	1	NAPA	19	47995277	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	110741	47995277	11133706	4108	6173											
ZNF114	163071	broad.mit.edu	37	chr19	48790081	48790081	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaagactttgcaaagtcGtcaggacttaaaaaacatct	8	7	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:48790081G>A	uc002pil.1	+	5	1697	c.1200G>A	c.(1198-1200)tcG>tcA	p.S400S	ZNF114_uc010elv.1_Silent_p.S400S|ZNF114_uc002pim.1_Silent_p.S400S|ZNF114_uc002pin.2_Silent_p.S366S	NM_153608	NP_705836	Q8NC26	ZN114_HUMAN	Homo sapiens zinc finger protein 114 (ZNF114), mRNA.	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S400S(2)		endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TTGCAAAGTCGTCAGGACTTA	0.373													A	48790081	G	A	48790081	2	1	4	1	0	0	0	0	0	0	0	1	17713	1132	40	1		1	ZNF114	19	48790081	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	794804	48790081	10338902	4109	6174											
KDELR1	10945	broad.mit.edu	37	chr19	48887702	48887702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacagctgcggcaagatgGccactgactccaggtagatg	13	10	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:48887702G>A	uc002pjb.1	-	3	584	c.389C>T	c.(388-390)gCc>gTc	p.A130V	KDELR1_uc002pja.1_Missense_Mutation_p.A68V	NM_006801	NP_006792	P24390	ERD21_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 (KDELR1), mRNA.	130					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	ER-Golgi intermediate compartment|endoplasmic reticulum membrane|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		CGGCAAGATGGCCACTGACTC	0.597													A	48887702	G	A	48887702	3	1	4	1	0	0	0	0	1	0	0	0	8119	1203	42	2	257	2	KDELR1	19	48887702	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	97621	48887702	10241281	4110	6175											
RASIP1	54922	broad.mit.edu	37	chr19	49227759	49227759	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccattgatagaaaggccgGccttgacctgtgggtgttaa	13	8	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:49227759G>A	uc002pki.3	-	9	2576	c.2379C>T	c.(2377-2379)ggC>ggT	p.G793G	RASIP1_uc002pkh.3_Silent_p.G54G	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Homo sapiens Ras interacting protein 1 (RASIP1), mRNA.	793	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		AGAAAGGCCGGCCTTGACCTG	0.567													A	49227759	G	A	49227759	2	1	4	1	0	0	0	0	0	0	0	1	13078	1190	42	2		2	RASIP1	19	49227759	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	340057	49227759	9901224	4111	6176											
NUCB1	4924	broad.mit.edu	37	chr19	49416353	49416353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaggaacacgagagacggcGttatctggagtcactgggag	15	7	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:49416353G>A	uc002plb.4	+	5	900	c.566G>A	c.(565-567)cGt>cAt	p.R189H	NUCB1_uc002pla.3_Missense_Mutation_p.R189H|Mir_324_uc021uxb.1_5'Flank	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	Homo sapiens nucleobindin 1 (NUCB1), mRNA.	189						ER-Golgi intermediate compartment|Golgi apparatus|extracellular space|membrane|microtubule cytoskeleton	DNA binding|calcium ion binding	p.R188W(1)		cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GAGAGACGGCGTTATCTGGAG	0.592													A	49416353	G	A	49416353	3	1	4	1	0	0	0	0	1	0	0	0	10718	1145	40	1	584	1	NUCB1	19	49416353	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	188594	49416353	9712630	4112	6177											
DHDH	27294	broad.mit.edu	37	chr19	49442881	49442881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggacatcggcatctactGtgtccagttcacctccatgg	10	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:49442881G>A	uc002ple.1	+	3	582	c.542G>A	c.(541-543)tGt>tAt	p.C181Y		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	Homo sapiens dihydrodiol dehydrogenase (dimeric) (DHDH), mRNA.	181					carbohydrate metabolic process		D-xylose 1-dehydrogenase (NADP+) activity|NAD(P)+ transhydrogenase activity|binding|electron carrier activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GGCATCTACTGTGTCCAGTTC	0.572													A	49442881	G	A	49442881	3	1	4	1	0	0	0	0	1	0	0	0	4479	1377	48	4	556	4	DHDH	19	49442881	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	26528	49442881	9686102	4113	6178											
KCNA7	3743	broad.mit.edu	37	chr19	49575644	49575644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtagtagtagagcacggCgtcgaagctgggccggtgcc	17	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:49575644C>T	uc002pmg.3	-	0	555	c.199G>A	c.(199-201)Gcc>Acc	p.A67T		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7), mRNA.	67						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		TAGAGCACGGCGTCGAAGCTG	0.706													T	49575644	C	T	49575644	3	4	4	1	0	0	0	0	1	0	0	0	8008	768	27	1	1179	1	KCNA7	19	49575644	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	132763	49575644	9553339	4114	6179											
CD37	951	broad.mit.edu	37	chr19	49842133	49842133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggcttggacacctggcGcggtccagacacagtgcaga	14	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:49842133G>A	uc002pnd.3	+	5	745	c.624G>A	c.(622-624)gcG>gcA	p.A208A	AK097351_uc002pnb.1_Intron|CD37_uc002pnc.3_Non-coding_Transcript|CD37_uc010yam.1_Silent_p.A208A|CD37_uc010yan.1_Silent_p.A140A|CD37_uc002pnf.3_Silent_p.A180A|CD37_uc002pne.3_Silent_p.A140A	NM_001774	NP_001035120	P11049	CD37_HUMAN	Homo sapiens CD37 molecule (CD37), transcript variant 1, mRNA.	208						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		GACACCTGGCGCGGTCCAGAC	0.607													A	49842133	G	A	49842133	2	1	4	1	0	0	0	0	0	0	0	1	3008	1074	38	1		1	CD37	19	49842133	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	266489	49842133	9286850	4115	6180											
TEAD2	8463	broad.mit.edu	37	chr19	49846621	49846621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgctgccaccggcccctGcctcctcaccacttgggccc	9	20	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:49846621G>A	uc002pnh.3	-	10	1062	c.956C>T	c.(955-957)gCa>gTa	p.A319V	TEAD2_uc002png.3_Missense_Mutation_p.A318V|TEAD2_uc002pni.3_Missense_Mutation_p.A318V|TEAD2_uc002pnj.3_Missense_Mutation_p.A315V|TEAD2_uc010yao.2_Missense_Mutation_p.A187V|TEAD2_uc010emw.3_Missense_Mutation_p.A318V	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	Homo sapiens TEA domain family member 2 (TEAD2), mRNA.	315	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G318S(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		ACCGGCCCCTGCCTCCTCACC	0.597													A	49846621	G	A	49846621	3	1	4	1	0	0	0	0	1	0	0	0	15736	1319	46	2	411	2	TEAD2	19	49846621	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4488	49846621	9282362	4116	6181											
RCN3	57333	broad.mit.edu	37	chr19	50040306	50040306	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtgaagaatttcatgaCgtggaggatgcagagaccta	13	7	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:50040306C>T	uc002poj.3	+	3	909	c.462C>T	c.(460-462)gaC>gaT	p.D154D	TRNA_Lys_uc021uxn.1_5'Flank	NM_020650	NP_065701	Q96D15	RCN3_HUMAN	Homo sapiens reticulocalbin 3, EF-hand calcium binding domain (RCN3), mRNA.	154						endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		AATTTCATGACGTGGAGGATG	0.527													T	50040306	C	T	50040306	2	4	4	1	0	0	0	0	0	0	0	1	13181	535	19	1		1	RCN3	19	50040306	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	193685	50040306	9088677	4117	6182											
FUZ	80199	broad.mit.edu	37	chr19	50314650	50314650	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccctctggaggaatcacGcagtccacacactgggtcag	11	14	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:50314650G>A	uc002ppq.2	-	4	666	c.462C>T	c.(460-462)tgC>tgT	p.C154C	FUZ_uc002ppt.2_Non-coding_Transcript|FUZ_uc002ppu.2_Silent_p.C118C|FUZ_uc010ybd.2_Silent_p.C154C	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	Homo sapiens fuzzy homolog (Drosophila) (FUZ), transcript variant 1, mRNA.	154					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		GAGGAATCACGCAGTCCACAC	0.572													A	50314650	G	A	50314650	2	1	4	1	0	0	0	0	0	0	0	1	6112	1079	38	1		1	FUZ	19	50314650	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	274344	50314650	8814333	4118	6183											
MED25	81857	broad.mit.edu	37	chr19	50334046	50334046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccccaggaccccctggcGcccccaagccaccacctgct	7	23	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:50334046G>A	uc002ppw.2	+	8	1066	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T	MED25_uc010ybe.2_Missense_Mutation_p.A122T|MED25_uc002ppx.1_Missense_Mutation_p.A116T	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	Homo sapiens mediator complex subunit 25 (MED25), mRNA.	335	Pro-rich.		A -> V (in CMT2B2).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		ACCCCCTGGCGCCCCCAAGCC	0.706													A	50334046	G	A	50334046	3	1	4	1	0	0	0	0	1	0	0	0	9443	1087	38	1	1037	1	MED25	19	50334046	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	19396	50334046	8794937	4119	6184											
PNKP	11284	broad.mit.edu	37	chr19	50367620	50367620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaaagaccttcccagagCgtgtggtgatgagcgtcccg	15	10	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:50367620C>T	uc002pqj.3	-	4	649	c.539G>A	c.(538-540)cGc>cAc	p.R180H	PNKP_uc002pqg.3_5'UTR|PNKP_uc002pqi.3_Missense_Mutation_p.R141H|PNKP_uc021uxx.1_Missense_Mutation_p.R180H	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP), mRNA.	180			R -> S (in dbSNP:rs3739185).		DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CTTCCCAGAGCGTGTGGTGAT	0.577								Other BER factors					T	50367620	C	T	50367620	3	4	4	1	0	0	0	0	1	0	0	0	12147	768	27	1	1078	1	PNKP	19	50367620	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	33574	50367620	8761363	4120	6185											
IL4I1	259307	broad.mit.edu	37	chr19	50393017	50393017	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctttgccaggtcatgCgaggggctgctggccacccc	12	15	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:50393017C>T	uc002pqv.2	-	10	2470	c.1641G>A	c.(1639-1641)tcG>tcA	p.S547S	IL4I1_uc002pqt.1_Silent_p.S538S|IL4I1_uc021uxy.1_Silent_p.S560S|IL4I1_uc002pqu.2_Silent_p.S560S|IL4I1_uc010eno.2_Silent_p.S546S	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.	538						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		CCAGGTCATGCGAGGGGCTGC	0.617													T	50393017	C	T	50393017	2	4	4	1	0	0	0	0	0	0	0	1	7697	755	27	1		1	IL4I1	19	50393017	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	25397	50393017	8735966	4121	6186											
JOSD2	126119	broad.mit.edu	37	chr19	51009492	51009492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcactaccagcagcacctCgcacaggccctgggccagcg	12	17	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:51009492C>T	uc002psn.1	-	4	536	c.505G>A	c.(505-507)Gag>Aag	p.E169K	JOSD2_uc002psp.1_Missense_Mutation_p.E169K|JOSD2_uc002pso.1_Missense_Mutation_p.E169K|JOSD2_uc002psq.1_Missense_Mutation_p.E127K	NM_138334	NP_612207	Q8TAC2	JOS2_HUMAN	Homo sapiens Josephin domain containing 2 (JOSD2), mRNA.	169	Josephin.				protein deubiquitination		ubiquitin-specific protease activity			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		AGCAGCACCTCGCACAGGCCC	0.682													T	51009492	C	T	51009492	3	4	4	1	0	0	0	0	1	0	0	0	7959	893	31	1	65	1	JOSD2	19	51009492	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	616475	51009492	8119491	4122	6187											
LRRC4B	94030	broad.mit.edu	37	chr19	51021314	51021314	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtgatgggcaccgtgaaCgccttctccgtgggccgcga	14	14	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:51021314C>T	uc002pss.3	-	2	1793	c.1656G>A	c.(1654-1656)gcG>gcA	p.A552A		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	552						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCACCGTGAACGCCTTCTCCG	0.672													T	51021314	C	T	51021314	2	4	4	1	0	0	0	0	0	0	0	1	9007	523	19	1		1	LRRC4B	19	51021314	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	11822	51021314	8107669	4123	6188											
SHANK1	50944	broad.mit.edu	37	chr19	51217085	51217085	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcagtgtcgggcgcatgcGgccttatgcagtgcggtcat	16	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:51217085G>A	uc002psx.1	-	4	781	c.762C>T	c.(760-762)gcC>gcT	p.A254A		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	254					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGGCGCATGCGGCCTTATGCA	0.637													A	51217085	G	A	51217085	2	1	4	1	0	0	0	0	0	0	0	1	14264	1103	39	1		1	SHANK1	19	51217085	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	195771	51217085	7911898	4124	6189											
SIGLEC10	89790	broad.mit.edu	37	chr19	51920664	51920664	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatgcacaggccctccggCaccatcactgactcctgcac	9	17	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:51920664C>T	uc002pwo.3	-	1	315	c.93G>A	c.(91-93)gtG>gtA	p.V31V	SIGLEC10_uc002pwp.3_Silent_p.V31V|SIGLEC10_uc021uyl.1_Silent_p.V31V|SIGLEC10_uc002pwq.3_Silent_p.V31V|SIGLEC10_uc010ycz.2_Silent_p.V31V|SIGLEC10_uc002pws.2_Silent_p.V31V|SIGLEC10_uc002pwr.3_Silent_p.V31V|SIGLEC10_uc010ycy.2_Silent_p.V31V|SIGLEC10_uc010eow.3_Intron|LOC100129083_uc021uym.1_Non-coding_Transcript	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	31	Ig-like V-type.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGCCCTCCGGCACCATCACTG	0.592													T	51920664	C	T	51920664	2	4	4	1	0	0	0	0	0	0	0	1	14306	697	25	2		2	SIGLEC10	19	51920664	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	703579	51920664	7208319	4125	6190											
ZNF613	79898	broad.mit.edu	37	chr19	52447944	52447944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatgtgacaaagcattcCgctggaaatcacagctcaat	8	10	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:52447944C>T	uc002pxz.2	+	5	1272	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	ZNF613_uc002pya.2_Missense_Mutation_p.R234C	NM_001031721	NP_079116	Q6PF04	ZN613_HUMAN	Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA.	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CAAAGCATTCCGCTGGAAATC	0.453													T	52447944	C	T	52447944	3	4	4	1	0	0	0	0	1	0	0	0	18035	652	23	1	822	1	ZNF613	19	52447944	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	527280	52447944	6681039	4126	6191											
ZNF615	284370	broad.mit.edu	37	chr19	52496650	52496650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttctctcctgtatgagtgCgccgatgtacattgagatga	11	8	1	3	rs147205148		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:52496650C>T	uc002pyf.2	-	6	2029	c.1712G>A	c.(1711-1713)cGc>cAc	p.R571H	AK128361_uc021uys.1_5'Flank|ZNF615_uc002pye.2_Missense_Mutation_p.R560H|ZNF615_uc002pyh.2_Missense_Mutation_p.R571H|ZNF615_uc010epi.2_Missense_Mutation_p.R567H|ZNF615_uc002pyg.2_Missense_Mutation_p.R452H|ZNF615_uc010ydg.2_Missense_Mutation_p.R565H	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTATGAGTGCGCCGATGTAC	0.448													T	52496650	C	T	52496650	3	4	4	1	0	0	0	0	1	0	0	0	18037	768	27	1	520	1	ZNF615	19	52496650	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	48706	52496650	6632333	4127	6192											
ZNF614	80110	broad.mit.edu	37	chr19	52519532	52519532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgatgtataataagagtgCgctttgtggtgaagccttta	12	5	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:52519532C>T	uc002pyj.3	-	4	1721	c.1319G>A	c.(1318-1320)cGc>cAc	p.R440H	ZNF614_uc002pyi.4_Intron|ZNF614_uc010epj.3_Missense_Mutation_p.R143H	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	Homo sapiens zinc finger protein 614 (ZNF614), mRNA.	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R440H(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AATAAGAGTGCGCTTTGTGGT	0.408													T	52519532	C	T	52519532	3	4	4	1	0	0	0	0	1	0	0	0	18036	768	27	1	442	1	ZNF614	19	52519532	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	22882	52519532	6609451	4128	6193											
ZNF616	90317	broad.mit.edu	37	chr19	52619372	52619372	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatttatatggtttctttcCtgcatggattacctgatgta	7	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:52619372C>A	uc002pym.3	-	3	1328	c.1045G>T	c.(1045-1047)Gga>Tga	p.G349*	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GGTTTCTTTCCTGCATGGATT	0.408													A	52619372	C	A	52619372	4	1	4	1	0	0	0	0	0	1	0	0	18038	690	24	5	1304	5	ZNF616	19	52619372	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	99840	52619372	6509611	4129	6194											
PPP2R1A	5518	broad.mit.edu	37	chr19	52714620	52714620	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccctctgacctggaggcGcactttgtgccgctagtgaa	12	13	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:52714620G>A	uc002pyp.3	+	3	673	c.378G>A	c.(376-378)gcG>gcA	p.A126A	PPP2R1A_uc010ydk.2_Silent_p.A71A|PPP2R1A_uc010epm.1_Silent_p.A166A|PPP2R1A_uc002pyq.3_5'UTR	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	126	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ACCTGGAGGCGCACTTTGTGC	0.662			Mis		clear cell ovarian carcinoma								A	52714620	G	A	52714620	2	1	4	1	0	0	0	0	0	0	0	1	12382	1074	38	1		1	PPP2R1A	19	52714620	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	95248	52714620	6414363	4130	6195											
ZNF480	147657	broad.mit.edu	37	chr19	52825210	52825210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttacaaatgtaattcatGcggcaaggtctttagtcgca	8	9	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:52825210G>A	uc010ydl.2	+	4	777	c.707G>A	c.(706-708)tGc>tAc	p.C236Y	ZNF480_uc002pyv.3_Missense_Mutation_p.C159Y|ZNF480_uc010ydm.2_Missense_Mutation_p.C193Y|ZNF480_uc010epn.3_Missense_Mutation_p.C67Y|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TGTAATTCATGCGGCAAGGTC	0.363													A	52825210	G	A	52825210	3	1	4	1	0	0	0	0	1	0	0	0	17932	1319	46	2	721	2	ZNF480	19	52825210	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	110590	52825210	6303773	4131	6196											
ZNF480	147657	broad.mit.edu	37	chr19	52825228	52825228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcggcaaggtctttagtcGcaattcacaccttgcagaac	9	11	2	1	rs148271899	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:52825228G>A	uc010ydl.2	+	4	795	c.725G>A	c.(724-726)cGc>cAc	p.R242H	ZNF480_uc002pyv.3_Missense_Mutation_p.R165H|ZNF480_uc010ydm.2_Missense_Mutation_p.R199H|ZNF480_uc010epn.3_Missense_Mutation_p.R73H|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GTCTTTAGTCGCAATTCACAC	0.363													A	52825228	G	A	52825228	3	1	4	1	0	0	0	0	1	0	0	0	17932	1087	38	1	739	1	ZNF480	19	52825228	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	18	52825228	6303755	4132	6197											
ZNF528	84436	broad.mit.edu	37	chr19	52919279	52919279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtgacaaggtctttgggCgcaagtgtttcctgacctct	11	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:52919279C>T	uc002pzh.3	+	6	1600	c.1174C>T	c.(1174-1176)Cgc>Tgc	p.R392C	ZNF528_uc002pzi.3_Missense_Mutation_p.R159C	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GGTCTTTGGGCGCAAGTGTTT	0.423													T	52919279	C	T	52919279	3	4	4	1	0	0	0	0	1	0	0	0	17966	768	27	1	1188	1	ZNF528	19	52919279	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	94051	52919279	6209704	4133	6198											
ZNF701	55762	broad.mit.edu	37	chr19	53086002	53086002	+	Frame_Shift_Del	DEL	A	A	-													tttaatggtagctcactcttAaaaaaacatcagataatcca							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:53086001_53086001TA>T	uc010ydn.2	+	4	950	c.887_887TA>T	c.(886-888)ttafs	p.L296fs	ZNF701_uc002pzs.2_Frame_Shift_Del_p.L230fs|ZNF701_uc021uyw.1_Frame_Shift_Del_p.L296fs	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AGCTCACTCTTAAAAAAACAT	0.388													-	53086002	A	-	53086002	7	5	4	1	0	1	0	1	0	0	0	0	18102	359	13	0	902	0	ZNF701	19	53086002	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	166723	53086002	6042981	4134	6199											
ZNF611	81856	broad.mit.edu	37	chr19	53208665	53208665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccagataggaatgacacGcaaaagccttgtcacaaacc	8	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:53208665G>A	uc002pzz.3	-	6	1960	c.1643C>T	c.(1642-1644)gCg>gTg	p.A548V	ZNF611_uc010eqc.3_Missense_Mutation_p.A478V|ZNF611_uc010ydo.2_Missense_Mutation_p.A478V|ZNF611_uc010ydp.2_Missense_Mutation_p.A548V|ZNF611_uc010ydq.2_Missense_Mutation_p.A548V|ZNF611_uc010ydr.2_Missense_Mutation_p.A479V|ZNF611_uc002qaa.4_Missense_Mutation_p.A478V|ZNF611_uc021uyy.1_Missense_Mutation_p.A479V	NM_030972	NP_001154973	Q8N823	ZN611_HUMAN	Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA.	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GGAATGACACGCAAAAGCCTT	0.398													A	53208665	G	A	53208665	3	1	4	1	0	0	0	0	1	0	0	0	18034	1087	38	1	478	1	ZNF611	19	53208665	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	122663	53208665	5920318	4135	6200											
ZNF331	55422	broad.mit.edu	37	chr19	54080668	54080668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttttatttgtggttcaaGcctcattcagcataaaagaa	8	7	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:54080668G>A	uc002qbx.1	+	6	2288	c.854G>A	c.(853-855)aGc>aAc	p.S285N	ZNF331_uc002qby.1_Missense_Mutation_p.S285N|ZNF331_uc002qbz.1_Missense_Mutation_p.S285N|ZNF331_uc010eqr.1_Missense_Mutation_p.S285N|ZNF331_uc002qca.1_Missense_Mutation_p.S285N|ZNF331_uc021uzg.1_Missense_Mutation_p.S285N|ZNF331_uc021uzh.1_Missense_Mutation_p.S285N|ZNF331_uc002qcb.1_Missense_Mutation_p.S285N|ZNF331_uc002qcc.1_Missense_Mutation_p.S285N|ZNF331_uc002qcd.1_Missense_Mutation_p.S285N	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TGTGGTTCAAGCCTCATTCAG	0.413			T	?	follicular thyroid adenoma								A	54080668	G	A	54080668	3	1	4	1	0	0	0	0	1	0	0	0	17846	971	34	2	864	2	ZNF331	19	54080668	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	872003	54080668	5048315	4136	6201											
MYADM	91663	broad.mit.edu	37	chr19	54376938	54376938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctacctgcgtggccttctCgctggtggctagcgtgggcg	16	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:54376938C>T	uc002qcm.3	+	2	303	c.155C>T	c.(154-156)tCg>tTg	p.S52L	MYADM_uc002qcl.3_Missense_Mutation_p.S52L|MYADM_uc002qcn.3_Missense_Mutation_p.S52L|MYADM_uc002qco.3_Missense_Mutation_p.S52L|MYADM_uc002qcp.3_Missense_Mutation_p.S52L|MYADM_uc021vbb.1_Missense_Mutation_p.S52L	NM_138373	NP_612382	Q96S97	MYADM_HUMAN	Homo sapiens myeloid-associated differentiation marker (MYADM), transcript variant 2, mRNA.	52	MARVEL 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GTGGCCTTCTCGCTGGTGGCT	0.657											OREG0003650	type=REGULATORY REGION|Gene=MYADM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	54376938	C	T	54376938	3	4	4	1	0	0	0	0	1	0	0	0	10006	893	31	1	157	1	MYADM	19	54376938	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	296270	54376938	4752045	4137	6202											
MYADM	91663	broad.mit.edu	37	chr19	54377441	54377441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcatcctagcggccatcGccatcctgctgaacctgggg	11	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:54377441G>A	uc002qcm.3	+	2	806	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	MYADM_uc002qcl.3_Missense_Mutation_p.A220T|MYADM_uc002qcn.3_Missense_Mutation_p.A220T|MYADM_uc002qco.3_Missense_Mutation_p.A220T|MYADM_uc002qcp.3_Missense_Mutation_p.A220T|MYADM_uc021vbb.1_Missense_Mutation_p.A220T	NM_138373	NP_612382	Q96S97	MYADM_HUMAN	Homo sapiens myeloid-associated differentiation marker (MYADM), transcript variant 2, mRNA.	220	MARVEL 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		AGCGGCCATCGCCATCCTGCT	0.632													A	54377441	G	A	54377441	3	1	4	1	0	0	0	0	1	0	0	0	10006	1087	38	1	660	1	MYADM	19	54377441	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	503	54377441	4751542	4138	6203											
PRKCG	5582	broad.mit.edu	37	chr19	54406360	54406360	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agccctatgggaagtctgtcGattggtggtcctttggagtt	14	7	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:54406360G>T	uc002qcq.1	+	14	1891	c.1609G>T	c.(1609-1611)Gat>Tat	p.D537Y	PRKCG_uc010yeg.1_Missense_Mutation_p.D537Y|PRKCG_uc010yeh.1_Missense_Mutation_p.D424Y	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	537	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GAAGTCTGTCGATTGGTGGTC	0.542													T	54406360	G	T	54406360	3	4	4	1	0	0	0	0	1	0	0	0	12512	1058	37	5	1667	5	PRKCG	19	54406360	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	28919	54406360	4722623	4139	6204											
TFPT	29844	broad.mit.edu	37	chr19	54618073	54618073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcaaagcccacggctgCcatggtcctgagaggcaggg	13	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:54618073C>T	uc010yej.1	-	1	437	c.31G>A	c.(31-33)Gca>Aca	p.A11T	TFPT_uc010erd.2_Missense_Mutation_p.A11T|PRPF31_uc002qdh.2_5'Flank|PRPF31_uc010yek.1_5'Flank|PRPF31_uc021vbi.1_5'Flank	NM_013342	NP_037474	P0C1Z6	TFPT_HUMAN	Homo sapiens TCF3 (E2A) fusion partner (in childhood Leukemia) (TFPT), mRNA.	11					DNA recombination|DNA repair|apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|cytoplasm	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CCCACGGCTGCCATGGTCCTG	0.652			T	TCF3	pre-B ALL								T	54618073	C	T	54618073	3	4	4	1	0	0	0	0	1	0	0	0	15807	739	26	2	750	2	TFPT	19	54618073	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	211713	54618073	4510910	4140	6205											
TMC4	147798	broad.mit.edu	37	chr19	54669181	54669181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtacaagatgatgcgctggCgcagccgcacgtggacgtcc	14	13	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:54669181C>T	uc010erf.3	-	5	1067	c.935G>A	c.(934-936)cGc>cAc	p.R312H	TMC4_uc002qdn.3_5'Flank|TMC4_uc002qdo.3_Missense_Mutation_p.R306H	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.	312						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GATGCGCTGGCGCAGCCGCAC	0.632													T	54669181	C	T	54669181	3	4	4	1	0	0	0	0	1	0	0	0	15984	768	27	1	1243	1	TMC4	19	54669181	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	51108	54669181	4459802	4141	6206											
LILRA4	23547	broad.mit.edu	37	chr19	54848127	54848127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcacctgagaccacgagctCcaggggctcactggggtgag	14	13	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:54848127C>T	uc002qfj.3	-	5	1297	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	LILRA4_uc002qfi.3_Missense_Mutation_p.E348K	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	414						integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		ACCACGAGCTCCAGGGGCTCA	0.602													T	54848127	C	T	54848127	3	4	4	1	0	0	0	0	1	0	0	0	8787	864	30	4	271	4	LILRA4	19	54848127	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	178946	54848127	4280856	4142	6207											
LENG8	114823	broad.mit.edu	37	chr19	54967409	54967409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctccaggtccccgacgcGccacttccgcagaaggtact	9	18	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:54967409G>A	uc002qfv.1	+	7	1322	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H	LENG8_uc002qfw.2_Missense_Mutation_p.R430H			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	393	Ser-rich.						protein binding	p.R430H(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TCCCCGACGCGCCACTTCCGC	0.617													A	54967409	G	A	54967409	3	1	4	1	0	0	0	0	1	0	0	0	8724	1087	38	1	1319	1	LENG8	19	54967409	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	119282	54967409	4161574	4143	6208											
LILRB1	10859	broad.mit.edu	37	chr19	55143618	55143618	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggtggtggtacaggtgCtatgcttatgactcgaactc	13	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:55143618C>T	uc002qgj.3	+	5	931	c.591C>T	c.(589-591)tgC>tgT	p.C197C	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.C197C|LILRB1_uc002qgk.3_Silent_p.C197C|LILRB1_uc002qgm.3_Silent_p.C197C|LILRB1_uc010erq.3_Silent_p.C197C|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	197	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGTACAGGTGCTATGCTTATG	0.592										HNSCC(37;0.09)			T	55143618	C	T	55143618	2	4	4	1	0	0	0	0	0	0	0	1	8790	805	28	2		2	LILRB1	19	55143618	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	176209	55143618	3985365	4144	6209											
RDH13	112724	broad.mit.edu	37	chr19	55568079	55568079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaagccaagtccaggtgCcgggcgttgacatggtgatt	16	8	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:55568079C>T	uc002qio.3	-	2	467	c.282G>A	c.(280-282)cgG>cgA	p.R94R	RDH13_uc002qip.2_Silent_p.R23R|RDH13_uc010yfq.1_Non-coding_Transcript|RDH13_uc010esr.1_5'Flank	NM_001145971	NP_612421	Q8NBN7	RDH13_HUMAN	Homo sapiens retinol dehydrogenase 13 (all-trans/9-cis) (RDH13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	94							binding|oxidoreductase activity	p.R94R(1)|p.R23R(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	AGTCCAGGTGCCGGGCGTTGA	0.572													T	55568079	C	T	55568079	2	4	4	1	0	0	0	0	0	0	0	1	13192	726	26	2		2	RDH13	19	55568079	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	424461	55568079	3560904	4145	6210											
TMEM190	147744	broad.mit.edu	37	chr19	55889054	55889054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtctccggtgctgctaccGcaatggggtctgctaccacc	12	15	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:55889054G>A	uc002qkt.1	+	2	206	c.188G>A	c.(187-189)cGc>cAc	p.R63H		NM_139172	NP_631911	Q8WZ59	TM190_HUMAN	Homo sapiens transmembrane protein 190 (TMEM190), mRNA.	63	P-type.					integral to membrane				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TGCTGCTACCGCAATGGGGTC	0.687													A	55889054	G	A	55889054	3	1	4	1	0	0	0	0	1	0	0	0	16111	1087	38	1	198	1	TMEM190	19	55889054	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	320975	55889054	3239929	4146	6211											
ZNF581	51545	broad.mit.edu	37	chr19	56156449	56156449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggtgcactctggggaacGcccgtttcagtgtccacact	12	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:56156449G>A	uc002qln.3	+	1	785	c.512G>A	c.(511-513)cGc>cAc	p.R171H	ZNF581_uc002qlq.3_Missense_Mutation_p.R171H|ZNF581_uc021vcb.1_Missense_Mutation_p.R171H|CCDC106_uc002qlr.3_5'Flank|CCDC106_uc021vcc.1_5'Flank|CCDC106_uc021vcd.1_5'Flank	NM_016535	NP_057619	Q9P0T4	ZN581_HUMAN	Homo sapiens zinc finger protein 581 (ZNF581), mRNA.	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TCTGGGGAACGCCCGTTTCAG	0.692													A	56156449	G	A	56156449	3	1	4	1	0	0	0	0	1	0	0	0	18010	1087	38	1	514	1	ZNF581	19	56156449	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	267395	56156449	2972534	4147	6212											
NLRP4	147945	broad.mit.edu	37	chr19	56369066	56369066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagacctatcaagctcacGcaaagcagaaattcagccgc	7	13	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:56369066G>A	uc002qmd.4	+	2	729	c.307G>A	c.(307-309)Gca>Aca	p.A103T	NLRP4_uc002qmf.3_Missense_Mutation_p.A28T|NLRP4_uc010etf.3_5'UTR	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	103							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCAAGCTCACGCAAAGCAGAA	0.428													A	56369066	G	A	56369066	3	1	4	1	0	0	0	0	1	0	0	0	10479	1087	38	1	313	1	NLRP4	19	56369066	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	212617	56369066	2759917	4148	6213											
NLRP4	147945	broad.mit.edu	37	chr19	56382267	56382267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcgtaacaagagcgtgcGctatctagacctcagtgcca	10	12	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:56382267G>A	uc002qmd.4	+	6	2851	c.2429G>A	c.(2428-2430)cGc>cAc	p.R810H	NLRP4_uc002qmf.3_Missense_Mutation_p.R735H|NLRP4_uc010etf.3_Missense_Mutation_p.R585H	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	810							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAGAGCGTGCGCTATCTAGAC	0.517													A	56382267	G	A	56382267	3	1	4	1	0	0	0	0	1	0	0	0	10479	1087	38	1	2451	1	NLRP4	19	56382267	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	13201	56382267	2746716	4149	6214											
ZNF787	126208	broad.mit.edu	37	chr19	56600116	56600116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctcgcccgtgtggatgCgctggtgctgcatgaggttg	16	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:56600116C>T	uc010eth.1	-	2	544	c.425G>A	c.(424-426)cGc>cAc	p.R142H		NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN	Homo sapiens zinc finger protein 787 (ZNF787), mRNA.	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CGTGTGGATGCGCTGGTGCTG	0.677													T	56600116	C	T	56600116	3	4	4	1	0	0	0	0	1	0	0	0	18156	768	27	1	730	1	ZNF787	19	56600116	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	217849	56600116	2528867	4150	6215											
ZNF470	388566	broad.mit.edu	37	chr19	57081729	57081729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaattaaactttgtaaaGccatgtccctggtgagttag	10	7	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:57081729G>A	uc002qnl.4	+	2	725	c.49G>A	c.(49-51)Gcc>Acc	p.A17T	BX647249_uc002qnk.1_5'Flank|ZNF470_uc010etn.3_Non-coding_Transcript	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ACTTTGTAAAGCCATGTCCCT	0.408													A	57081729	G	A	57081729	3	1	4	1	0	0	0	0	1	0	0	0	17926	971	34	2	51	2	ZNF470	19	57081729	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	481613	57081729	2047254	4151	6216											
ZNF71	58491	broad.mit.edu	37	chr19	57132721	57132721	+	Frame_Shift_Del	DEL	G	G	-													tccgttgttggggaggccacGgggggacccacgaggaatgg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:57132721delG	uc002qnm.3	+	3	304	c.66delG	c.(64-66)ACGfs	p.T22fs		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	22						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGGAGGCCACGGGGGGACCCA	0.557													-	57132721	G	-	57132721	7	5	4	1	0	1	0	1	0	0	0	0	18111	1103	39	0	68	0	ZNF71	19	57132721	Frame_Shift_Del	DEL	G	TCGA-BR-4184-01A-01D-1126-08	50992	57132721	1996262	4152	6217											
ZNF71	58491	broad.mit.edu	37	chr19	57133474	57133474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaagccgtacgtgtgcccCgagtgcgggcgagccttcag	16	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:57133474C>T	uc002qnm.4	+	2	1057	c.819C>T	c.(817-819)ccC>ccT	p.P273P	ZNF71_uc021vcg.1_Silent_p.P273P	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	273						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P273P(2)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ACGTGTGCCCCGAGTGCGGGC	0.672													T	57133474	C	T	57133474	2	4	4	1	0	0	0	0	0	0	0	1	18111	639	23	1		1	ZNF71	19	57133474	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	753	57133474	1995509	4153	6218											
ZNF835	90485	broad.mit.edu	37	chr19	57175802	57175802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagcggaaggccttggcGcacgcggagcactcgtaggg	18	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:57175802G>A	uc010ygn.2	-	1	992	c.765C>T	c.(763-765)tgC>tgT	p.C255C		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AGGCCTTGGCGCACGCGGAGC	0.682													A	57175802	G	A	57175802	2	1	4	1	0	0	0	0	0	0	0	1	18183	1079	38	1		1	ZNF835	19	57175802	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	42328	57175802	1953181	4154	6219											
ZNF835	90485	broad.mit.edu	37	chr19	57176545	57176545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactctgcgccctggagggCgacgctcaagagtccctcca	11	16	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:57176545C>T	uc010ygn.2	-	1	249	c.22G>A	c.(22-24)Gcc>Acc	p.A8T		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCCTGGAGGGCGACGCTCAAG	0.517													T	57176545	C	T	57176545	3	4	4	1	0	0	0	0	1	0	0	0	18183	768	27	1	1593	1	ZNF835	19	57176545	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	743	57176545	1952438	4155	6220											
PEG3	5178	broad.mit.edu	37	chr19	57327787	57327787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttattgtaagttttctgacGccttttaagggactgaccag	9	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:57327787G>A	uc002qnu.2	-	6	2374	c.2023C>T	c.(2023-2025)Cgt>Tgt	p.R675C	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R646C|PEG3_uc002qnv.2_Missense_Mutation_p.R675C|PEG3_uc002qnw.2_Missense_Mutation_p.R551C|PEG3_uc002qnx.2_Missense_Mutation_p.R549C|PEG3_uc010etr.2_Missense_Mutation_p.R675C	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	675					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTTTTCTGACGCCTTTTAAGG	0.428													A	57327787	G	A	57327787	3	1	4	1	0	0	0	0	1	0	0	0	11720	1087	38	1	2747	1	PEG3	19	57327787	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	151242	57327787	1801196	4156	6221											
ZIM3	114026	broad.mit.edu	37	chr19	57646555	57646555	+	Frame_Shift_Del	DEL	T	T	-													gggcttttccccagtatggaTttttttatgttgaatgaggt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:57646554_57646554AT>A	uc002qnz.1	-	4	1537	c.1151_1151AT>T	c.(1150-1152)atcfs	p.I384fs		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K383Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCAGTATGGATTTTTTTATG	0.388													-	57646555	T	-	57646555	7	5	4	1	0	1	0	1	0	0	0	0	17682	1493	52	0	272	0	ZIM3	19	57646555	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	318768	57646555	1482428	4157	6222											
ZNF547	284306	broad.mit.edu	37	chr19	57889141	57889141	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagggttcacactggaaagaGgccttatggttgcagtgaat	14	6	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:57889141G>T	uc002qol.3	+	3	1002	c.797G>T	c.(796-798)aGg>aTg	p.R266M		NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN	Homo sapiens zinc finger protein 547 (ZNF547), mRNA.	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTGGAAAGAGGCCTTATGGT	0.423													T	57889141	G	T	57889141	3	4	4	1	0	0	0	0	1	0	0	0	17976	1000	35	5	807	5	ZNF547	19	57889141	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	242586	57889141	1239842	4158	6223											
ZNF773	374928	broad.mit.edu	37	chr19	58018779	58018779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatcgaaggattcacactgGagaaatacaatgattgtgag	10	6	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:58018779G>A	uc002qox.3	+	3	1456	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E	ZNF773_uc002qoy.3_Missense_Mutation_p.G438E|ZNF773_uc021vcl.1_Intron	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	Homo sapiens zinc finger protein 773 (ZNF773), mRNA.	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		ATTCACACTGGAGAAATACAA	0.413													A	58018779	G	A	58018779	3	1	4	1	0	0	0	0	1	0	0	0	18143	1174	41	4	1330	4	ZNF773	19	58018779	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	129638	58018779	1110204	4159	6224											
ZNF550	162972	broad.mit.edu	37	chr19	58059032	58059032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccctgcatgaatcaaggCgtctttccctggttgctgtg	11	11	2	1	rs78685508	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:58059032C>T	uc002qpe.1	-	1	457	c.457G>A	c.(457-459)Gcc>Acc	p.A153T	ZNF550_uc002qpc.3_Non-coding_Transcript|ZNF550_uc010eue.2_Non-coding_Transcript|ZNF550_uc002qpd.3_Non-coding_Transcript	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN	Homo sapiens zinc finger protein 550 (ZNF550), mRNA.	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGAATCAAGGCGTCTTTCCCT	0.488													T	58059032	C	T	58059032	3	4	4	1	0	0	0	0	1	0	0	0	17979	768	27	1	692	1	ZNF550	19	58059032	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	40253	58059032	1069951	4160	6225											
ZNF550	162972	broad.mit.edu	37	chr19	58059290	58059290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagagtcaggcttccccGgagaaaggcccgctcagata	11	13	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:58059290G>A	uc002qpe.1	-	1	199	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	ZNF550_uc002qpc.3_Non-coding_Transcript|ZNF550_uc010eue.2_Non-coding_Transcript|ZNF550_uc002qpd.3_Non-coding_Transcript	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN	Homo sapiens zinc finger protein 550 (ZNF550), mRNA.	108	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGCTTCCCCGGAGAAAGGCC	0.517													A	58059290	G	A	58059290	3	1	4	1	0	0	0	0	1	0	0	0	17979	1115	39	1	950	1	ZNF550	19	58059290	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	258	58059290	1069693	4161	6226											
ZNF416	55659	broad.mit.edu	37	chr19	58084160	58084160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtgtgagttctctggtgtCgaacaagagtggatttggac	14	6	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:58084160C>T	uc002qpf.3	-	3	1283	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q		NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	Homo sapiens zinc finger protein 416 (ZNF416), mRNA.	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TCTCTGGTGTCGAACAAGAGT	0.428													T	58084160	C	T	58084160	3	4	4	1	0	0	0	0	1	0	0	0	17890	884	31	1	676	1	ZNF416	19	58084160	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	24870	58084160	1044823	4162	6227											
ZNF551	90233	broad.mit.edu	37	chr19	58199015	58199015	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtgggaaatcctttagaCaattctctaacctcattcga	6	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:58199015C>T	uc002qpw.4	+	2	1547	c.1324C>T	c.(1324-1326)Caa>Taa	p.Q442*	ZNF551_uc002qpv.4_Nonsense_Mutation_p.Q385*|ZNF551_uc002qpx.3_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 551 (ZNF551), mRNA.	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATCCTTTAGACAATTCTCTAA	0.418													T	58199015	C	T	58199015	4	4	4	1	0	0	0	0	0	1	0	0	17980	479	17	4	1334	4	ZNF551	19	58199015	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	114855	58199015	929968	4163	6228											
ZNF329	79673	broad.mit.edu	37	chr19	58639657	58639657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactctcgatgaaagtcttgCcacattctttacattcatag	5	11	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:58639657C>T	uc002qrn.3	-	3	1451	c.1214G>A	c.(1213-1215)gGc>gAc	p.G405D	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Missense_Mutation_p.G405D	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	Homo sapiens zinc finger protein 329 (ZNF329), mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GAAAGTCTTGCCACATTCTTT	0.463													T	58639657	C	T	58639657	3	4	4	1	0	0	0	0	1	0	0	0	17844	739	26	2	415	2	ZNF329	19	58639657	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	440642	58639657	489326	4164	6229											
ZNF329	79673	broad.mit.edu	37	chr19	58640244	58640244	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttccgtttgaagcatttGccacattcagtacatctata	7	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:58640244G>A	uc002qrn.3	-	3	864	c.627C>T	c.(625-627)ggC>ggT	p.G209G	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Silent_p.G209G	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	Homo sapiens zinc finger protein 329 (ZNF329), mRNA.	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGAAGCATTTGCCACATTCAG	0.403													A	58640244	G	A	58640244	2	1	4	1	0	0	0	0	0	0	0	1	17844	1306	46	2		2	ZNF329	19	58640244	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	587	58640244	488739	4165	6230											
ZNF274	10782	broad.mit.edu	37	chr19	58724308	58724308	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgaggactcacactggCgctaagccctacaagtgtca	9	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:58724308C>T	uc002qrq.1	+	8	2217	c.1758C>T	c.(1756-1758)ggC>ggT	p.G586G	ZNF274_uc002qrr.1_Silent_p.G554G|ZNF274_uc002qrs.1_Silent_p.G481G|ZNF274_uc010eum.1_Silent_p.G346G	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	587					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		CTCACACTGGCGCTAAGCCCT	0.547													T	58724308	C	T	58724308	2	4	4	1	0	0	0	0	0	0	0	1	17806	755	27	1		1	ZNF274	19	58724308	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	84064	58724308	404675	4166	6231											
DEFB129	140881	broad.mit.edu	37	chr20	210132	210132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgccaagaattctagtgCtgtgatacaaagaaaacata	7	8	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:210132C>T	uc002wda.3	+	1	303	c.272C>T	c.(271-273)gCt>gTt	p.A91V		NM_080831	NP_543021	Q9H1M3	DB129_HUMAN	Homo sapiens defensin, beta 129 (DEFB129), mRNA.	91					defense response to bacterium	extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			AATTCTAGTGCTGTGATACAA	0.353													T	210132	C	T	210132	3	4	4	1	0	0	0	0	1	0	0	0	4415	797	28	2	278	2	DEFB129	20	210132	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08		210132	62815388	4167	6232											
C20orf96	140680	broad.mit.edu	37	chr20	257710	257710	+	Missense_Mutation	SNP	T	T	G													ccacagaactcagaatttttTtcttcttcttctgaatcttg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:257710T>G	uc002wde.2	-	7	968	c.800A>C	c.(799-801)aAa>aCa	p.K267T	C20orf96_uc021vzl.1_Missense_Mutation_p.K266T|C20orf96_uc010zpi.2_Missense_Mutation_p.K214T|C20orf96_uc010zpj.1_Missense_Mutation_p.K232T|C20orf96_uc010zpk.2_Missense_Mutation_p.K205T	NM_153269	NP_695001	Q9NUD7	CT096_HUMAN	Homo sapiens chromosome 20 open reading frame 96 (C20orf96), transcript variant 1, mRNA.	267	Poly-Lys.									endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGAATTTTTTTCTTCTTCTT	0.562													G	257710	T	G	257710	3	3	4	1	0	0	0	0	1	0	0	0	2122	1841	64	5	307	5	C20orf96	20	257710	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	47578	257710	62767810	4168	6233	12	2									
C20orf96	140680	broad.mit.edu	37	chr20	257712	257712	+	Silent	SNP	C	C	T													acagaactcagaatttttttCttcttcttctgaatcttgtc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:257712C>T	uc002wde.2	-	7	966	c.798G>A	c.(796-798)aaG>aaA	p.K266K	C20orf96_uc021vzl.1_Silent_p.K265K|C20orf96_uc010zpi.2_Silent_p.K213K|C20orf96_uc010zpj.1_Silent_p.K231K|C20orf96_uc010zpk.2_Silent_p.K204K	NM_153269	NP_695001	Q9NUD7	CT096_HUMAN	Homo sapiens chromosome 20 open reading frame 96 (C20orf96), transcript variant 1, mRNA.	266	Poly-Lys.									endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GAATTTTTTTCTTCTTCTTCT	0.557													T	257712	C	T	257712	2	4	4	1	0	0	0	0	0	0	0	1	2122	912	32	4		4	C20orf96	20	257712	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2	257712	62767808	4169	6234	12	2									
PSMF1	9491	broad.mit.edu	37	chr20	1145099	1145099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgctttgacccctttggacCcattgggaccagcccacccg	9	17	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:1145099C>T	uc002wel.4	+	6	911	c.743C>T	c.(742-744)cCc>cTc	p.P248L	PSMF1_uc010zpo.2_Missense_Mutation_p.P160L|PSMF1_uc010zpp.2_Missense_Mutation_p.P186L|PSMF1_uc002wen.4_Missense_Mutation_p.P248L|PSMF1_uc002wep.4_Missense_Mutation_p.P199L	NM_178578	NP_848693	Q92530	PSMF1_HUMAN	Homo sapiens proteasome (prosome, macropain) inhibitor subunit 1 (PI31) (PSMF1), transcript variant 2, mRNA.	248	Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCCTTTGGACCCATTGGGACC	0.577													T	1145099	C	T	1145099	3	4	4	1	0	0	0	0	1	0	0	0	12710	623	22	4	765	4	PSMF1	20	1145099	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	887387	1145099	61880421	4170	6235											
SNPH	9751	broad.mit.edu	37	chr20	1277814	1277814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctccacctgtgagcgtgCgggatgcctacggcacctct	11	16	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:1277814C>T	uc002wet.3	+	4	889	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	SNPH_uc002wes.3_Missense_Mutation_p.R26W	NM_014723	NP_055538	O15079	SNPH_HUMAN	Homo sapiens syntaphilin (SNPH), mRNA.	26					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	p.P70P(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGTGAGCGTGCGGGATGCCTA	0.637													T	1277814	C	T	1277814	3	4	4	1	0	0	0	0	1	0	0	0	14850	759	27	1	82	1	SNPH	20	1277814	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	132715	1277814	61747706	4171	6236											
SIRPB2	284759	broad.mit.edu	37	chr20	1459011	1459011	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcatcctcactggagacGttttgcagaagaatgctgaa	10	10	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:1459011G>A	uc002wfg.2	-	2	921	c.693C>T	c.(691-693)aaC>aaT	p.N231N	SIRPB2_uc002wfh.3_Silent_p.N133N|SIRPB2_uc010zpr.1_Silent_p.N93N	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	Homo sapiens signal-regulatory protein beta 2 (SIRPB2), transcript variant 1, mRNA.	231	Ig-like V-type 2.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CACTGGAGACGTTTTGCAGAA	0.522													A	1459011	G	A	1459011	2	1	4	1	0	0	0	0	0	0	0	1	14334	1136	40	1		1	SIRPB2	20	1459011	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	181197	1459011	61566509	4172	6237											
SIRPB1	10326	broad.mit.edu	37	chr20	1558987	1558987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccacgctgtactcaccgcGcacagacagctcagtgcctg	10	17	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:1558987G>A	uc010gai.3	-	1	529	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C	SIRPB1_uc002wfk.4_Missense_Mutation_p.R144C	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	144					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TACTCACCGCGCACAGACAGC	0.552													A	1558987	G	A	1558987	3	1	4	1	0	0	0	0	1	0	0	0	14333	1087	38	1	782	1	SIRPB1	20	1558987	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	99976	1558987	61466533	4173	6238											
SIRPG	55423	broad.mit.edu	37	chr20	1616842	1616842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtcctctacctcggatgGcctcagacaagttggcagtc	12	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:1616842G>A	uc002wfm.1	-	2	805	c.740C>T	c.(739-741)gCc>gTc	p.A247V	SIRPG_uc002wfn.1_Missense_Mutation_p.A247V|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	247					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						ACCTCGGATGGCCTCAGACAA	0.627													A	1616842	G	A	1616842	3	1	4	1	0	0	0	0	1	0	0	0	14336	1203	42	2	435	2	SIRPG	20	1616842	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	57855	1616842	61408678	4174	6239											
STK35	140901	broad.mit.edu	37	chr20	2097969	2097969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgctaacccacaggaccGgcctgatgcctttgaacttg	10	13	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:2097969G>A	uc002wfw.4	+	2	1550	c.1550G>A	c.(1549-1551)cGg>cAg	p.R517Q	STK35_uc010zpu.2_Intron	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN	Homo sapiens serine/threonine kinase 35 (STK35), mRNA.	517	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						CCACAGGACCGGCCTGATGCC	0.473													A	2097969	G	A	2097969	3	1	4	1	0	0	0	0	1	0	0	0	15300	1116	39	1	1560	1	STK35	20	2097969	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	481127	2097969	60927551	4175	6240											
TGM3	7053	broad.mit.edu	37	chr20	2312868	2312868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgaagacagtgacagtgaaCatgacagcctggaccatcat	10	10	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:2312868C>T	uc002wfx.4	+	9	1651	c.1554C>T	c.(1552-1554)aaC>aaT	p.N518N		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	518					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGACAGTGAACATGACAGCCT	0.532													T	2312868	C	T	2312868	2	4	4	1	0	0	0	0	0	0	0	1	15828	477	17	4		4	TGM3	20	2312868	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	214899	2312868	60712652	4176	6241											
SNRPB	6628	broad.mit.edu	37	chr20	2442418	2442418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtctagggccttggtgggCgcattcccgggggagggggc	21	9	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:2442418C>T	uc002wfz.1	-	6	870	c.707G>A	c.(706-708)cGc>cAc	p.R236H	SNRPB_uc002wga.1_3'UTR|SNRPB_uc010zpv.2_3'UTR|SNRPB_uc002wgb.3_3'UTR	NM_198216	NP_937859	P14678	RSMB_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 1, mRNA.	236	Repeat-rich region.				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	RNA binding|protein binding	p.R236H(2)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTTGGTGGGCGCATTCCCGG	0.542													T	2442418	C	T	2442418	3	4	4	1	0	0	0	0	1	0	0	0	14861	768	27	1	19	1	SNRPB	20	2442418	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	129550	2442418	60583102	4177	6242											
TMC2	117532	broad.mit.edu	37	chr20	2621828	2621828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggccatggacaagaaggCgcagggccctgggacctcca	14	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:2621828C>T	uc002wgf.1	+	19	2567	c.2552C>T	c.(2551-2553)gCg>gTg	p.A851V	TMC2_uc002wgg.1_Missense_Mutation_p.A835V	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	851						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GACAAGAAGGCGCAGGGCCCT	0.567													T	2621828	C	T	2621828	3	4	4	1	0	0	0	0	1	0	0	0	15982	768	27	1	2630	1	TMC2	20	2621828	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	179410	2621828	60403692	4178	6243											
FAM113A	64773	broad.mit.edu	37	chr20	2818955	2818955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcaggtgtgagaggtggCggtgtgcatgctggtcccag	19	7	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:2818955C>T	uc002wgz.1	-	5	1261	c.764G>A	c.(763-765)cGc>cAc	p.R255H	FAM113A_uc010zqa.1_Missense_Mutation_p.R102H|FAM113A_uc002whc.1_Missense_Mutation_p.R204H|VPS16_uc002whe.3_5'Flank|VPS16_uc002whf.3_5'Flank	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	Homo sapiens family with sequence similarity 113, member A (FAM113A), mRNA.	255	His-rich.						hydrolase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(4)	17						TGAGAGGTGGCGGTGTGCATG	0.617													T	2818955	C	T	2818955	3	4	4	1	0	0	0	0	1	0	0	0	5401	768	27	1	612	1	FAM113A	20	2818955	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	197127	2818955	60206565	4179	6244											
VPS16	64601	broad.mit.edu	37	chr20	2840446	2840446	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgcaccctatgggggCcccattggtatgttgcccct	12	14	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:2840446C>T	uc002whe.3	+	1	183	c.135C>T	c.(133-135)ggC>ggT	p.G45G	VPS16_uc002whf.3_Silent_p.G45G|VPS16_uc002whg.3_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	45					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CCTATGGGGGCCCCATTGGTA	0.572													T	2840446	C	T	2840446	2	4	4	1	0	0	0	0	0	0	0	1	17190	726	26	2		2	VPS16	20	2840446	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	21491	2840446	60185074	4180	6245											
VPS16	64601	broad.mit.edu	37	chr20	2844008	2844008	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccttcctgaagtacagggCgtcagcaggatcctggccca	12	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:2844008C>T	uc002whe.3	+	14	1488	c.1440C>T	c.(1438-1440)ggC>ggT	p.G480G	PTPRA_uc002whj.3_5'Flank|VPS16_uc002whf.3_Silent_p.G336G|VPS16_uc002whg.3_Silent_p.G166G	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	480					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AAGTACAGGGCGTCAGCAGGA	0.582													T	2844008	C	T	2844008	2	4	4	1	0	0	0	0	0	0	0	1	17190	755	27	1		1	VPS16	20	2844008	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3562	2844008	60181512	4181	6246											
PTPRA	5786	broad.mit.edu	37	chr20	2945651	2945651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaatataactctgggacCcacctatttaaccactgtca	4	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:2945651C>T	uc010zqd.2	+	3	568	c.251C>T	c.(250-252)cCc>cTc	p.P84L	PTPRA_uc002whj.3_Missense_Mutation_p.P73L|PTPRA_uc010zqb.1_Missense_Mutation_p.P73L|PTPRA_uc010zqc.1_Intron|PTPRA_uc002whk.3_Missense_Mutation_p.P73L|PTPRA_uc002whl.3_Missense_Mutation_p.P73L|PTPRA_uc002whm.3_5'UTR|PTPRA_uc002whn.3_Missense_Mutation_p.P73L	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	73					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACTCTGGGACCCACCTATTTA	0.418													T	2945651	C	T	2945651	3	4	4	1	0	0	0	0	1	0	0	0	12795	623	22	4	224	4	PTPRA	20	2945651	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	101643	2945651	60079869	4182	6247											
AVP	551	broad.mit.edu	37	chr20	3065221	3065221	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctcagctccaggtcggAcatggccctcttgccgcccc	10	18	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:3065221A>C	uc002whu.3	-	0	150	c.100T>G	c.(100-102)Tcc>Gcc	p.S34A		NM_000490	NP_000481	P01185	NEU2_HUMAN	Homo sapiens arginine vasopressin (AVP), mRNA.	34					ERK1 and ERK2 cascade|cell-cell signaling|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	V1A vasopressin receptor binding|caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		TCCAGGTCGGACATGGCCCTC	0.642													C	3065221	A	C	3065221	3	2	4	1	0	0	0	0	1	0	0	0	1229	275	10	5	406	5	AVP	20	3065221	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	119570	3065221	59960299	4183	6248											
FASTKD5	60493	broad.mit.edu	37	chr20	3128084	3128084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctctgctaaataccacaGcaattcagacccctcttgct	4	15	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:3128084G>A	uc021vzx.1	-	0	1633	c.1633C>T	c.(1633-1635)Ctg>Ttg	p.L545L	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Silent_p.L545L	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	545					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AAATACCACAGCAATTCAGAC	0.453													A	3128084	G	A	3128084	2	1	4	1	0	0	0	0	0	0	0	1	5688	962	34	2		2	FASTKD5	20	3128084	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	62863	3128084	59897436	4184	6249											
SLC4A11	83959	broad.mit.edu	37	chr20	3209061	3209061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccggatgtagtgtgtcGgggggtacgcagtctgtggg	18	9	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:3209061G>A	uc010zqe.2	-	18	2656	c.2531C>T	c.(2530-2532)cCg>cTg	p.P844L	SLC4A11_uc002wig.3_Missense_Mutation_p.P817L|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Missense_Mutation_p.P801L	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	817	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GTAGTGTGTCGGGGGGTACGC	0.672													A	3209061	G	A	3209061	3	1	4	1	0	0	0	0	1	0	0	0	14652	1116	39	1	233	1	SLC4A11	20	3209061	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	80977	3209061	59816459	4185	6250											
SLC4A11	83959	broad.mit.edu	37	chr20	3210034	3210034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgatgagggagaaggCgagcaccgcgatgggcaggg	21	7	0	3	rs138262189		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:3210034C>T	uc010zqe.2	-	14	2061	c.1936G>A	c.(1936-1938)Gcc>Acc	p.A646T	SLC4A11_uc002wig.3_Missense_Mutation_p.A619T|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Missense_Mutation_p.A603T	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	619	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AGGGAGAAGGCGAGCACCGCG	0.662													T	3210034	C	T	3210034	3	4	4	1	0	0	0	0	1	0	0	0	14652	768	27	1	844	1	SLC4A11	20	3210034	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	973	3210034	59815486	4186	6251											
SLC4A11	83959	broad.mit.edu	37	chr20	3212106	3212106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgaattcctcctctgtgCgggtctccaggagcttctgg	11	13	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:3212106C>T	uc010zqe.2	-	7	1072	c.947G>A	c.(946-948)cGc>cAc	p.R316H	SLC4A11_uc002wig.3_Missense_Mutation_p.R289H|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Missense_Mutation_p.R273H	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	289					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CTCCTCTGTGCGGGTCTCCAG	0.592													T	3212106	C	T	3212106	3	4	4	1	0	0	0	0	1	0	0	0	14652	768	27	1	1861	1	SLC4A11	20	3212106	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2072	3212106	59813414	4187	6252											
SLC4A11	83959	broad.mit.edu	37	chr20	3214613	3214613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcacccctgtcactgtggCggtgaccccttggatggtat	12	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:3214613C>T	uc010zqe.2	-	5	813	c.688G>A	c.(688-690)Gcc>Acc	p.A230T	SLC4A11_uc002wig.3_Missense_Mutation_p.A203T|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Missense_Mutation_p.A187T	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	203					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GTCACTGTGGCGGTGACCCCT	0.647													T	3214613	C	T	3214613	3	4	4	1	0	0	0	0	1	0	0	0	14652	768	27	1	2128	1	SLC4A11	20	3214613	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2507	3214613	59810907	4188	6253											
ATRN	8455	broad.mit.edu	37	chr20	3528132	3528132	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcctgcttctcagactgGcagggtaggagcttctttca	11	11	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:3528132G>A	uc002wim.2	+	4	1029	c.939G>A	c.(937-939)tgG>tgA	p.W313*	ATRN_uc002wil.2_Nonsense_Mutation_p.W313*|ATRN_uc021vzz.1_Nonsense_Mutation_p.W197*	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	313					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TCTCAGACTGGCAGGGTAGGA	0.373													A	3528132	G	A	3528132	4	1	4	1	0	0	0	0	0	1	0	0	1206	1212	42	2	957	2	ATRN	20	3528132	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	313519	3528132	59497388	4189	6254											
ATRN	8455	broad.mit.edu	37	chr20	3584894	3584894	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgtcagtaatttcacctgGcccatcaaaattcaggtaag	7	9	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:3584894G>A	uc002wim.2	+	23	3876	c.3786G>A	c.(3784-3786)tgG>tgA	p.W1262*	ATRN_uc002wil.2_Nonsense_Mutation_p.W1262*|ATRN_uc021vzz.1_Nonsense_Mutation_p.W1146*	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	1262					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ATTTCACCTGGCCCATCAAAA	0.363													A	3584894	G	A	3584894	4	1	4	1	0	0	0	0	0	1	0	0	1206	1212	42	2	3880	2	ATRN	20	3584894	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	56762	3584894	59440626	4190	6255											
SIGLEC1	6614	broad.mit.edu	37	chr20	3678463	3678463	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accctggccattgaaggtggCtgaggtggaggcgttgccca	16	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:3678463C>A	uc002wja.3	-	7	2104	c.2104G>T	c.(2104-2106)Gcc>Tcc	p.A702S	SIGLEC1_uc002wiz.4_Missense_Mutation_p.A702S	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	702	Ig-like C2-type 6.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TTGAAGGTGGCTGAGGTGGAG	0.612													A	3678463	C	A	3678463	3	1	4	1	0	0	0	0	1	0	0	0	14305	797	28	5	3081	5	SIGLEC1	20	3678463	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	93569	3678463	59347057	4191	6256											
SIGLEC1	6614	broad.mit.edu	37	chr20	3683963	3683963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggagggtatgggagtggGcatcctccagcaggacatgg	18	9	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:3683963G>A	uc002wja.3	-	4	1109	c.1109C>T	c.(1108-1110)gCc>gTc	p.A370V	SIGLEC1_uc002wiz.4_Missense_Mutation_p.A370V|SIGLEC1_uc002wjc.3_Missense_Mutation_p.A281V	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	370	Ig-like C2-type 3.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ATGGGAGTGGGCATCCTCCAG	0.582													A	3683963	G	A	3683963	3	1	4	1	0	0	0	0	1	0	0	0	14305	1203	42	2	4088	2	SIGLEC1	20	3683963	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5500	3683963	59341557	4192	6257											
MAVS	57506	broad.mit.edu	37	chr20	3846580	3846580	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcacctttgggatccacgTggctgagaaccccagcatcc	12	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:3846580T>C	uc002wjw.4	+	6	1581	c.1409T>C	c.(1408-1410)gTg>gCg	p.V470A	MAVS_uc002wjx.4_Missense_Mutation_p.V329A|MAVS_uc002wjy.4_Missense_Mutation_p.V168A	NM_020746	NP_001193420	Q7Z434	MAVS_HUMAN	Homo sapiens mitochondrial antiviral signaling protein (MAVS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	470					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of IP-10 production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GGGATCCACGTGGCTGAGAAC	0.647													C	3846580	T	C	3846580	3	2	4	1	0	0	0	0	1	0	0	0	9338	1696	59	3	1431	3	MAVS	20	3846580	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	162617	3846580	59178940	4193	6258											
ADRA1D	146	broad.mit.edu	37	chr20	4202178	4202178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctctggggtccttaaatatCggtctcccgtaggttgctgt	12	10	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:4202178C>T	uc002wkr.2	-	1	1766	c.1711G>A	c.(1711-1713)Gat>Aat	p.D571N		NM_000678	NP_000669	P25100	ADA1D_HUMAN	Homo sapiens adrenergic, alpha-1D-, receptor (ADRA1D), mRNA.	571				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	CCTTAAATATCGGTCTCCCGT	0.637											OREG0025743	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	4202178	C	T	4202178	3	4	4	1	0	0	0	0	1	0	0	0	336	884	31	1	11	1	ADRA1D	20	4202178	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	355598	4202178	58823342	4194	6259											
PRNP	5621	broad.mit.edu	37	chr20	4680430	4680430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcacaatcaagcagcacacGgtcaccacaaccaccaaggg	7	15	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:4680430G>A	uc021wae.1	+	0	564	c.564G>A	c.(562-564)acG>acA	p.T188T	PRNP_uc002wkt.1_Silent_p.T158T|PRNP_uc002wku.3_Silent_p.T188T|PRNP_uc002wkv.3_Silent_p.T188T|PRNP_uc002wkw.3_Silent_p.T188T|PRNP_uc002wkx.3_Silent_p.T188T|PRNP_uc002wky.3_Silent_p.T188T|PRNP_uc010gbe.1_Silent_p.T188T	NM_183079	NP_898902	P04156	PRIO_HUMAN	Homo sapiens prion protein (PRNP), transcript variant 2, mRNA.	188	Interaction with GRB2, ERI3 and SYN1 (By similarity).		T -> K (in early-onset dementia; dementia associated to prion diseases).|T -> R.		axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of T cell receptor signaling pathway|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|protein homooligomerization|response to oxidative stress	Golgi apparatus|anchored to membrane|endoplasmic reticulum|extrinsic to membrane|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	AGCAGCACACGGTCACCACAA	0.517													A	4680430	G	A	4680430	2	1	4	1	0	0	0	0	0	0	0	1	12544	1103	39	1		1	PRNP	20	4680430	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	478252	4680430	58345090	4195	6260											
SLC23A2	9962	broad.mit.edu	37	chr20	4842713	4842713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaactgcaggttagagaggCcaacagctgtgatcattcct	11	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:4842713C>T	uc002wlg.1	-	14	1880	c.1505G>A	c.(1504-1506)gGc>gAc	p.G502D	SLC23A2_uc010zqr.1_Missense_Mutation_p.G387D|SLC23A2_uc002wlh.1_Missense_Mutation_p.G502D	NM_005116	NP_976072	Q9UGH3	S23A2_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA.	502					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTTAGAGAGGCCAACAGCTGT	0.507													T	4842713	C	T	4842713	3	4	4	1	0	0	0	0	1	0	0	0	14463	739	26	2	459	2	SLC23A2	20	4842713	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	162283	4842713	58182807	4196	6261											
HAO1	54363	broad.mit.edu	37	chr20	7886883	7886883	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccagctgatagatgggtcTattgctttagccacatatgc	9	10	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:7886883T>G	uc002wmw.1	-	3	663	c.639A>C	c.(637-639)atA>atC	p.I213I	HAO1_uc010gbu.3_Silent_p.I213I	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.	213	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TAGATGGGTCTATTGCTTTAG	0.383													G	7886883	T	G	7886883	2	3	4	1	0	0	0	0	0	0	0	1	6951	1512	53	5		5	HAO1	20	7886883	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	3044170	7886883	55138637	4197	6262											
PLCB1	23236	broad.mit.edu	37	chr20	8626776	8626776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatgaggttttcagtttgGcaacaaacctgctggcccaa	9	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:8626776G>A	uc002wnb.3	+	4	415	c.412G>A	c.(412-414)Gca>Aca	p.A138T	PLCB1_uc010zrb.1_Missense_Mutation_p.A37T|PLCB1_uc010gbv.1_Missense_Mutation_p.A138T|PLCB1_uc002wmz.1_Missense_Mutation_p.A138T|PLCB1_uc002wna.3_Missense_Mutation_p.A138T|PLCB1_uc002wnc.1_Missense_Mutation_p.A37T	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	138					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTTCAGTTTGGCAACAAACCT	0.398													A	8626776	G	A	8626776	3	1	4	1	0	0	0	0	1	0	0	0	12027	1203	42	2	430	2	PLCB1	20	8626776	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	739893	8626776	54398744	4198	6263											
PLCB1	23236	broad.mit.edu	37	chr20	8703032	8703032	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acggaaagtgacgacgacgaTgatgatgatgactgtaaaaa	12	5	0	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:8703032T>C	uc002wnb.3	+	14	1548	c.1545T>C	c.(1543-1545)gaT>gaC	p.D515D	PLCB1_uc010zrb.1_Silent_p.D414D|PLCB1_uc002wna.3_Silent_p.D515D|PLCB1_uc002wnc.1_Silent_p.D414D|PLCB1_uc002wnd.1_Silent_p.D92D	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	515					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACGACGACGATGATGATGATG	0.423													C	8703032	T	C	8703032	2	2	4	1	0	0	0	0	0	0	0	1	12027	1461	51	3		3	PLCB1	20	8703032	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	76256	8703032	54322488	4199	6264											
PLCB4	5332	broad.mit.edu	37	chr20	9360803	9360803	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacctgatgaagatttgaagAaaaaaggtaataaacatgaa	8	3	0	6			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:9360803A>G	uc021wam.1	+	9	862	c.847A>G	c.(847-849)Aaa>Gaa	p.K283E	PLCB4_uc010gbw.1_Missense_Mutation_p.K283E|PLCB4_uc010gbx.3_Missense_Mutation_p.K283E|PLCB4_uc021wal.1_Missense_Mutation_p.K283E|PLCB4_uc002wnh.3_Missense_Mutation_p.K130E	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	283					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGATTTGAAGAAAAAAGGTAA	0.299													G	9360803	A	G	9360803	3	3	4	1	0	0	0	0	1	0	0	0	12030	247	9	3	885	3	PLCB4	20	9360803	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	657771	9360803	53664717	4200	6265											
PLCB4	5332	broad.mit.edu	37	chr20	9404483	9404483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggatcctcccgcttgatgGcctccaagccggatatcgac	11	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:9404483G>A	uc021wam.1	+	23	2387	c.2372G>A	c.(2371-2373)gGc>gAc	p.G791D	PLCB4_uc010gbw.1_Missense_Mutation_p.G791D|PLCB4_uc010gbx.3_Missense_Mutation_p.G803D|PLCB4_uc021wal.1_Missense_Mutation_p.G791D|PLCB4_uc002wnh.3_Missense_Mutation_p.G638D	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	791					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCGCTTGATGGCCTCCAAGCC	0.438													A	9404483	G	A	9404483	3	1	4	1	0	0	0	0	1	0	0	0	12030	1203	42	2	2506	2	PLCB4	20	9404483	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	43680	9404483	53621037	4201	6266											
PAK7	57144	broad.mit.edu	37	chr20	9546783	9546783	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggagccccagctgggCggcgggtaggtgctggatga	21	8	0	1	rs140739060	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:9546783C>T	uc002wnl.2	-	5	1784	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	PAK7_uc002wnk.2_Silent_p.P413P|PAK7_uc002wnj.2_Silent_p.P413P|PAK7_uc010gby.1_Silent_p.P413P	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	413	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.P413L(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCCAGCTGGGCGGCGGGTAGG	0.657													T	9546783	C	T	9546783	2	4	4	1	0	0	0	0	0	0	0	1	11405	755	27	1		1	PAK7	20	9546783	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	142300	9546783	53478737	4202	6267											
ANKRD5	63926	broad.mit.edu	37	chr20	10036276	10036276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagaacatcacagagaaaGctcgagcactggaagctgcc	11	10	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:10036276G>A	uc002wno.3	+	10	2692	c.2299G>A	c.(2299-2301)Gct>Act	p.A767T	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.A767T|ANKRD5_uc010gbz.3_Missense_Mutation_p.A578T	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	767							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						CACAGAGAAAGCTCGAGCACT	0.458													A	10036276	G	A	10036276	3	1	4	1	0	0	0	0	1	0	0	0	676	971	34	2	2333	2	ANKRD5	20	10036276	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	489493	10036276	52989244	4203	6268											
MKKS	8195	broad.mit.edu	37	chr20	10393700	10393700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttacttgttaatatactacGcaccaaacaaaggaggatct	6	8	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:10393700G>A	uc002wnt.1	-	2	1350	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	MKKS_uc002wnu.1_Missense_Mutation_p.R155C|MKKS_uc010zrd.1_Intron	NM_018848	NP_740754	Q9NPJ1	MKKS_HUMAN	Homo sapiens McKusick-Kaufman syndrome (MKKS), transcript variant 1, mRNA.	155			R -> L (in BBS6; increases MKKS protein degradation only; localizes properly to the centrosome).		brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						AATATACTACGCACCAAACAA	0.423													A	10393700	G	A	10393700	3	1	4	1	0	0	0	0	1	0	0	0	9600	1087	38	1	1265	1	MKKS	20	10393700	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	357424	10393700	52631820	4204	6269											
C20orf94	128710	broad.mit.edu	37	chr20	10603861	10603861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagatttggcaaaaaccaCgtctaaggaagagttgcatg	10	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:10603861C>T	uc010zre.2	+	7	1241	c.1061C>T	c.(1060-1062)aCg>aTg	p.T354M		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	Homo sapiens chromosome 20 open reading frame 94 (C20orf94), mRNA.	354							protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	14						GCAAAAACCACGTCTAAGGAA	0.428													T	10603861	C	T	10603861	3	4	4	1	0	0	0	0	1	0	0	0	2121	536	19	1	1087	1	C20orf94	20	10603861	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	210161	10603861	52421659	4205	6270											
JAG1	182	broad.mit.edu	37	chr20	10620233	10620233	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccagtttgggtgttttgtCggcgtgccgttggggggctt	18	7	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:10620233C>T	uc002wnw.2	-	25	4086	c.3570G>A	c.(3568-3570)ccG>ccA	p.P1190P		NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	1190					Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGTGTTTTGTCGGCGTGCCGT	0.542									Alagille Syndrome				T	10620233	C	T	10620233	2	4	4	1	0	0	0	0	0	0	0	1	7934	871	31	1		1	JAG1	20	10620233	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	16372	10620233	52405287	4206	6271											
TASP1	55617	broad.mit.edu	37	chr20	13604122	13604122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagtgctgcagtgactgCgtcagttgcaagagcaccgg	13	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:13604122C>T	uc002woi.3	-	3	370	c.253G>A	c.(253-255)Gca>Aca	p.A85T	TASP1_uc010zri.1_Non-coding_Transcript|TASP1_uc010zrj.1_Non-coding_Transcript|TASP1_uc010zrk.2_Missense_Mutation_p.A85T	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	Homo sapiens taspase, threonine aspartase, 1 (TASP1), mRNA.	85					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						GCAGTGACTGCGTCAGTTGCA	0.363													T	13604122	C	T	13604122	3	4	4	1	0	0	0	0	1	0	0	0	15586	768	27	1	1053	1	TASP1	20	13604122	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2983889	13604122	49421398	4207	6272											
ESF1	51575	broad.mit.edu	37	chr20	13763615	13763615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgctatggctaatggggcGccctcttttatccacggcat	11	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:13763615G>A	uc002woj.3	-	1	280	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	ESF1_uc002wok.1_Missense_Mutation_p.R58C|NDUFAF5_uc002woo.3_5'Flank|NDUFAF5_uc002wom.3_5'Flank|NDUFAF5_uc002won.3_5'Flank	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		p.R58H(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CTAATGGGGCGCCCTCTTTTA	0.413													A	13763615	G	A	13763615	3	1	4	1	0	0	0	0	1	0	0	0	5251	1087	38	1	2435	1	ESF1	20	13763615	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	159493	13763615	49261905	4208	6273											
SEL1L2	80343	broad.mit.edu	37	chr20	13839962	13839962	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagattgaacatggcttgCgcgttgtggtatttgttggc	14	7	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:13839962C>T	uc010gcf.3	-	17	1846	c.1764G>A	c.(1762-1764)gcG>gcA	p.A588A	SEL1L2_uc002woq.4_Silent_p.A449A|SEL1L2_uc010zrl.2_Intron|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	588						integral to membrane	binding	p.A588V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ACATGGCTTGCGCGTTGTGGT	0.403													T	13839962	C	T	13839962	2	4	4	1	0	0	0	0	0	0	0	1	14011	755	27	1		1	SEL1L2	20	13839962	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	76347	13839962	49185558	4209	6274											
MACROD2	140733	broad.mit.edu	37	chr20	14665514	14665514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgtattcatagagcagcCggcccctgtttgctagctga	12	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:14665514C>T	uc002wou.3	+	4	591	c.327C>T	c.(325-327)gcC>gcT	p.A109A	MACROD2_uc002wot.3_Silent_p.A109A|MACROD2_uc002wox.3_Non-coding_Transcript	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	109	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				ATAGAGCAGCCGGCCCCTGTT	0.418													T	14665514	C	T	14665514	2	4	4	1	0	0	0	0	0	0	0	1	9146	639	23	1		1	MACROD2	20	14665514	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	825552	14665514	48360006	4210	6275											
MACROD2	140733	broad.mit.edu	37	chr20	16030511	16030511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcgaaggaacaaagaaatgGaactaaatgacaatcctcag	9	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:16030511G>A	uc002wou.3	+	17	1601	c.1337G>A	c.(1336-1338)gGa>gAa	p.G446E	MACROD2_uc002wot.3_Missense_Mutation_p.G423E|MACROD2_uc002woz.3_Missense_Mutation_p.G211E|MACROD2_uc002wpb.3_Missense_Mutation_p.G188E|MACROD2_uc002wpd.3_Missense_Mutation_p.G96E	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	446										breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CAAAGAAATGGAACTAAATGA	0.512													A	16030511	G	A	16030511	3	1	4	1	0	0	0	0	1	0	0	0	9146	1174	41	4	1407	4	MACROD2	20	16030511	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1364997	16030511	46995009	4211	6276											
KIF16B	55614	broad.mit.edu	37	chr20	16360543	16360543	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttggacgcggagaaAggtctcttcttcttgtctct	9	10	6	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:16360543A>G	uc002wpg.2	-	18	2263	c.2104T>C	c.(2104-2106)Ttt>Ctt	p.F702L	KIF16B_uc002wpe.1_Missense_Mutation_p.F84L|KIF16B_uc002wpf.1_Missense_Mutation_p.F84L|KIF16B_uc010gch.2_Missense_Mutation_p.F702L|KIF16B_uc010gci.2_Missense_Mutation_p.F702L|KIF16B_uc010gcj.2_Missense_Mutation_p.F713L	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	702	Glu-rich.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ACGCGGAGAAAGGTCTCTTCT	0.448													G	16360543	A	G	16360543	3	3	4	1	0	0	0	0	1	0	0	0	8278	72	3	3	1881	3	KIF16B	20	16360543	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	330032	16360543	46664977	4212	6277											
CSRP2BP	57325	broad.mit.edu	37	chr20	18163860	18163860	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcactggacgccggagccCgacgcacctctcgattactg	10	17	2	0	rs149106213		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:18163860C>T	uc021wbb.1	+	7	2339	c.1902C>T	c.(1900-1902)ccC>ccT	p.P634P	CSRP2BP_uc002wqk.3_Silent_p.P506P|CSRP2BP_uc010zru.2_Silent_p.P505P	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	634					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	p.P634P(2)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CGCCGGAGCCCGACGCACCTC	0.547													T	18163860	C	T	18163860	2	4	4	1	0	0	0	0	0	0	0	1	3968	639	23	1		1	CSRP2BP	20	18163860	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1803317	18163860	44861660	4213	6278											
ZNF133	7692	broad.mit.edu	37	chr20	18296267	18296267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcctaaagaagagcctcGccagacaccagaaggcacac	9	14	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:18296267G>A	uc010zrv.1	+	4	984	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	ZNF133_uc010gcq.2_Missense_Mutation_p.A258T|ZNF133_uc010zrw.1_Missense_Mutation_p.A195T|ZNF133_uc010gcr.2_Missense_Mutation_p.A258T|ZNF133_uc010zrx.1_Missense_Mutation_p.A163T|ZNF133_uc002wql.4_Missense_Mutation_p.A257T|ZNF133_uc010gcs.3_Missense_Mutation_p.A257T|ZNF133_uc010zry.2_Missense_Mutation_p.A163T|ZNF133_uc002wqm.2_Missense_Mutation_p.A258T	NM_003434	NP_003425	P52736	ZN133_HUMAN	Homo sapiens zinc finger protein 133 (ZNF133), transcript variant 1, mRNA.	258						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q260R(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GAAGAGCCTCGCCAGACACCA	0.547													A	18296267	G	A	18296267	3	1	4	1	0	0	0	0	1	0	0	0	17720	1087	38	1	779	1	ZNF133	20	18296267	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	132407	18296267	44729253	4214	6279											
ZNF133	7692	broad.mit.edu	37	chr20	18296956	18296956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcagacaccagaggacGcactcaggcgagaagcccat	10	14	3	3	rs139392054	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:18296956G>A	uc010zrv.1	+	4	1673	c.1470G>A	c.(1468-1470)acG>acA	p.T490T	ZNF133_uc010gcq.2_Silent_p.T487T|ZNF133_uc010zrw.1_Silent_p.T424T|ZNF133_uc010gcr.2_Silent_p.T487T|ZNF133_uc010zrx.1_Silent_p.T392T|ZNF133_uc002wql.4_Silent_p.T486T|ZNF133_uc010gcs.3_Silent_p.T486T|ZNF133_uc010zry.2_Silent_p.T392T|ZNF133_uc002wqm.2_Silent_p.T487T	NM_003434	NP_003425	P52736	ZN133_HUMAN	Homo sapiens zinc finger protein 133 (ZNF133), transcript variant 1, mRNA.	487						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						ACCAGAGGACGCACTCAGGCG	0.587													A	18296956	G	A	18296956	2	1	4	1	0	0	0	0	0	0	0	1	17720	1074	38	1		1	ZNF133	20	18296956	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	689	18296956	44728564	4215	6280											
SEC23B	10483	broad.mit.edu	37	chr20	18535003	18535003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacgcttcccgatgccacGttacatcaacacggagcatg	9	14	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:18535003G>A	uc002wra.2	+	17	2578	c.2117G>A	c.(2116-2118)cGt>cAt	p.R706H	SEC23B_uc010zsb.2_Missense_Mutation_p.R688H|SEC23B_uc002wrb.2_Missense_Mutation_p.R706H|SEC23B_uc002wqz.2_Missense_Mutation_p.R706H|SEC23B_uc002wrc.2_Missense_Mutation_p.R706H	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	706					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CCGATGCCACGTTACATCAAC	0.473													A	18535003	G	A	18535003	3	1	4	1	0	0	0	0	1	0	0	0	13992	1145	40	1	2183	1	SEC23B	20	18535003	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	238047	18535003	44490517	4216	6281											
SLC24A3	57419	broad.mit.edu	37	chr20	19674014	19674014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaaatggttcatggtgaCgtttgcttcctccacgctgt	12	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:19674014C>T	uc002wrl.3	+	12	1633	c.1436C>T	c.(1435-1437)aCg>aTg	p.T479M		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	479						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTCATGGTGACGTTTGCTTCC	0.517													T	19674014	C	T	19674014	3	4	4	1	0	0	0	0	1	0	0	0	14467	536	19	1	1486	1	SLC24A3	20	19674014	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1139011	19674014	43351506	4217	6282											
C20orf26	26074	broad.mit.edu	37	chr20	20269550	20269550	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctaatcttgaccggctcAtccccatgtacaagggagcc	9	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:20269550A>G	uc002wru.3	+	22	3208	c.3094A>G	c.(3094-3096)Atc>Gtc	p.I1032V	C20orf26_uc002wrw.3_Intron	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	1032										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGACCGGCTCATCCCCATGTA	0.507													G	20269550	A	G	20269550	3	3	4	1	0	0	0	0	1	0	0	0	2106	217	8	3	3212	3	C20orf26	20	20269550	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	595536	20269550	42755970	4218	6283											
RALGAPA2	57186	broad.mit.edu	37	chr20	20493786	20493786	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcggagccttccacatgGgcattgtcatggttctcgct	11	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:20493786G>A	uc002wrz.3	-	31	4370	c.4227C>T	c.(4225-4227)gcC>gcT	p.A1409A	RALGAPA2_uc002wry.3_Silent_p.A1024A|RALGAPA2_uc010zsg.2_Silent_p.A857A|RALGAPA2_uc002wsa.1_Silent_p.A181A	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1409					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTTCCACATGGGCATTGTCAT	0.547													A	20493786	G	A	20493786	2	1	4	1	0	0	0	0	0	0	0	1	13014	1219	43	4		4	RALGAPA2	20	20493786	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	224236	20493786	42531734	4219	6284											
RALGAPA2	57186	broad.mit.edu	37	chr20	20552181	20552181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttggcagaacgtcctggCgtctggtcatcatggcacag	13	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:20552181C>T	uc002wrz.3	-	22	3220	c.3077G>A	c.(3076-3078)cGc>cAc	p.R1026H	RALGAPA2_uc002wry.3_Missense_Mutation_p.R641H|RALGAPA2_uc010zsg.2_Missense_Mutation_p.R474H	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1026					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AACGTCCTGGCGTCTGGTCAT	0.483													T	20552181	C	T	20552181	3	4	4	1	0	0	0	0	1	0	0	0	13014	768	27	1	2612	1	RALGAPA2	20	20552181	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	58395	20552181	42473339	4220	6285											
RALGAPA2	57186	broad.mit.edu	37	chr20	20571843	20571843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaagaatctgagcacagCggctcggggatgtcggaggt	17	7	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:20571843C>T	uc002wrz.3	-	16	2462	c.2319G>A	c.(2317-2319)ccG>ccA	p.P773P	RALGAPA2_uc002wry.3_Silent_p.P388P|RALGAPA2_uc010zsg.2_Silent_p.P221P	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	773					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTGAGCACAGCGGCTCGGGGA	0.498													T	20571843	C	T	20571843	2	4	4	1	0	0	0	0	0	0	0	1	13014	755	27	1		1	RALGAPA2	20	20571843	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	19662	20571843	42453677	4221	6286											
XRN2	22803	broad.mit.edu	37	chr20	21309294	21309294	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcagcgagtcagggaagAaatattggcaaaaggtaaag	14	4	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:21309294A>G	uc002wsf.1	+	3	508	c.413A>G	c.(412-414)gAa>gGa	p.E138G	XRN2_uc002wsg.1_Missense_Mutation_p.E62G|XRN2_uc010zsk.1_Missense_Mutation_p.E84G	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.	138					DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GTCAGGGAAGAAATATTGGCA	0.443													G	21309294	A	G	21309294	3	3	4	1	0	0	0	0	1	0	0	0	17457	246	9	3	427	3	XRN2	20	21309294	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	737451	21309294	41716226	4222	6287											
XRN2	22803	broad.mit.edu	37	chr20	21311291	21311291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatcttgctaaatgccttcGctattacatagctgatcgtt	6	10	1	1	rs6137317		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:21311291G>A	uc002wsf.1	+	5	619	c.524G>A	c.(523-525)cGc>cAc	p.R175H	XRN2_uc002wsg.1_Missense_Mutation_p.R99H|XRN2_uc010zsk.1_Missense_Mutation_p.R121H	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.	175					DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						AAATGCCTTCGCTATTACATA	0.328													A	21311291	G	A	21311291	3	1	4	1	0	0	0	0	1	0	0	0	17457	1087	38	1	546	1	XRN2	20	21311291	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1997	21311291	41714229	4223	6288											
FOXA2	3170	broad.mit.edu	37	chr20	22563405	22563405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgcgtgcgtgtagctgcGcctgtaggtcttggggtcgc	16	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:22563405G>A	uc002wsm.3	-	1	660	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	FOXA2_uc002wsn.3_Missense_Mutation_p.R153C	NM_021784	NP_710141	Q9Y261	FOXA2_HUMAN	Homo sapiens forkhead box A2 (FOXA2), transcript variant 1, mRNA.	153					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GTGTAGCTGCGCCTGTAGGTC	0.647													A	22563405	G	A	22563405	3	1	4	1	0	0	0	0	1	0	0	0	5990	1087	38	1	920	1	FOXA2	20	22563405	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1252114	22563405	40462115	4224	6289											
SSTR4	6754	broad.mit.edu	37	chr20	23016316	23016316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggggctggtgggcaacGccctggtcatcttcgtgatc	16	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:23016316G>A	uc002wsr.2	+	0	260	c.196G>A	c.(196-198)Gcc>Acc	p.A66T		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	66					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.A66T(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGTGGGCAACGCCCTGGTCAT	0.657													A	23016316	G	A	23016316	3	1	4	1	0	0	0	0	1	0	0	0	15199	1087	38	1	198	1	SSTR4	20	23016316	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	452911	23016316	40009204	4225	6290											
CD93	22918	broad.mit.edu	37	chr20	23065010	23065010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcttcgctctccgcttgCgatagaccagtagccccaga	8	17	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:23065010C>T	uc002wsv.3	-	0	1968	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	607					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.R607H(2)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCTCCGCTTGCGATAGACCAG	0.582													T	23065010	C	T	23065010	3	4	4	1	0	0	0	0	1	0	0	0	3047	768	27	1	146	1	CD93	20	23065010	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	48694	23065010	39960510	4226	6291											
GZF1	64412	broad.mit.edu	37	chr20	23345592	23345592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagagagagccagcaatgGcatgtcttcagatttgccac	12	9	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:23345592G>A	uc010gdb.3	+	2	746	c.572G>A	c.(571-573)gGc>gAc	p.G191D	GZF1_uc002wsy.3_Missense_Mutation_p.G191D|GZF1_uc010zsq.2_Intron|GZF1_uc010zsr.2_Intron|GZF1_uc002wsz.3_Missense_Mutation_p.G191D	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	191					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GCCAGCAATGGCATGTCTTCA	0.537													A	23345592	G	A	23345592	3	1	4	1	0	0	0	0	1	0	0	0	6914	1203	42	2	574	2	GZF1	20	23345592	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	280582	23345592	39679928	4227	6292											
GZF1	64412	broad.mit.edu	37	chr20	23346300	23346300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgctgcggctgcacgagcGcacacacacgggagaccggc	15	15	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:23346300G>A	uc010gdb.3	+	2	1454	c.1280G>A	c.(1279-1281)cGc>cAc	p.R427H	GZF1_uc002wsy.3_Missense_Mutation_p.R427H|GZF1_uc010zsq.2_Intron|GZF1_uc010zsr.2_Intron|GZF1_uc002wsz.3_Missense_Mutation_p.R427H	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	427					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	p.R427H(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CTGCACGAGCGCACACACACG	0.716													A	23346300	G	A	23346300	3	1	4	1	0	0	0	0	1	0	0	0	6914	1087	38	1	1282	1	GZF1	20	23346300	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	708	23346300	39679220	4228	6293											
CST11	140880	broad.mit.edu	37	chr20	23432462	23432462	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacccaataccttgtgaagCtccctttcctgggggacaca	8	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:23432462C>T	uc002wtf.1	-	1	358	c.324G>A	c.(322-324)gaG>gaA	p.E108E	CST11_uc002wtg.1_Intron	NM_130794	NP_570612	Q9H112	CST11_HUMAN	Homo sapiens cystatin 11 (CST11), transcript variant 1, mRNA.	108					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CCTTGTGAAGCTCCCTTTCCT	0.468													T	23432462	C	T	23432462	2	4	4	1	0	0	0	0	0	0	0	1	3971	796	28	2		2	CST11	20	23432462	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	86162	23432462	39593058	4229	6294											
ENTPD6	955	broad.mit.edu	37	chr20	25187856	25187856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagtggcaccgggccaccGccacccaggccttcttcagc	10	18	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:25187856G>A	uc002wuj.2	+	2	379	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	ENTPD6_uc010zsy.1_Missense_Mutation_p.A67T|ENTPD6_uc010gdj.1_Missense_Mutation_p.A39T|ENTPD6_uc002wum.2_Missense_Mutation_p.A50T|ENTPD6_uc010zta.1_Missense_Mutation_p.A67T|ENTPD6_uc002wuk.2_Missense_Mutation_p.A66T|ENTPD6_uc002wul.2_Missense_Mutation_p.A66T|ENTPD6_uc010ztb.1_Missense_Mutation_p.A39T|ENTPD6_uc010ztc.1_Missense_Mutation_p.A39T|ENTPD6_uc002wuo.2_Intron|ENTPD6_uc010zsz.1_Intron|ENTPD6_uc010ztd.1_5'Flank	NM_001247	NP_001238	O75354	ENTP6_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.	67						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCGGGCCACCGCCACCCAGGC	0.687													A	25187856	G	A	25187856	3	1	4	1	0	0	0	0	1	0	0	0	5143	1087	38	1	212	1	ENTPD6	20	25187856	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1755394	25187856	37837664	4230	6295											
PYGB	5834	broad.mit.edu	37	chr20	25273229	25273229	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctgcgggtggaggatgtCgaggccttggaccggaaagg	20	8	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:25273229C>T	uc002wup.3	+	16	2266	c.2157C>T	c.(2155-2157)gtC>gtT	p.V719V		NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	719					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	TGGAGGATGTCGAGGCCTTGG	0.667													T	25273229	C	T	25273229	2	4	4	1	0	0	0	0	0	0	0	1	12860	871	31	1		1	PYGB	20	25273229	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	85373	25273229	37752291	4231	6296											
ZNF337	26152	broad.mit.edu	37	chr20	25657197	25657197	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccttgaggctgaagcctcGcccacacacactgcacacat	9	16	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:25657197G>A	uc002wva.3	-	3	1249	c.727C>T	c.(727-729)Cga>Tga	p.R243*	ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Nonsense_Mutation_p.R211*|ZNF337_uc002wvc.3_Nonsense_Mutation_p.R243*	NM_015655	NP_056470			Homo sapiens zinc finger protein 337 (ZNF337), mRNA.											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGAAGCCTCGCCCACACACA	0.532													A	25657197	G	A	25657197	4	1	4	1	0	0	0	0	0	1	0	0	17850	1095	38	1	1532	1	ZNF337	20	25657197	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	383968	25657197	37368323	4232	6297											
HM13	81502	broad.mit.edu	37	chr20	30147438	30147438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcattgccttgctgctgcGctttgacatcaggtgagtga	11	10	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:30147438G>A	uc002wwc.3	+	8	947	c.833G>A	c.(832-834)cGc>cAc	p.R278H	HM13_uc002wwd.3_Missense_Mutation_p.R278H|HM13_uc002wwe.3_Missense_Mutation_p.R278H|HM13_uc002wwf.3_Missense_Mutation_p.R154H	NM_178581	NP_848696	Q8TCT9	HM13_HUMAN	Homo sapiens histocompatibility (minor) 13 (HM13), transcript variant 3, mRNA.	278					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TTGCTGCTGCGCTTTGACATC	0.582											OREG0025850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	30147438	G	A	30147438	3	1	4	1	0	0	0	0	1	0	0	0	7217	1087	38	1	934	1	HM13	20	30147438	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4490241	30147438	32878082	4233	6298											
TM9SF4	9777	broad.mit.edu	37	chr20	30745754	30745754	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatccccgagcagcggtggtAcatgaaccgatttgtggggt	15	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:30745754A>G	uc002wxj.2	+	13	1722	c.1487A>G	c.(1486-1488)tAc>tGc	p.Y496C	TM9SF4_uc010zts.1_Missense_Mutation_p.Y403C|TM9SF4_uc002wxk.2_Missense_Mutation_p.Y479C	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	496						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAGCGGTGGTACATGAACCGA	0.607													G	30745754	A	G	30745754	3	3	4	1	0	0	0	0	1	0	0	0	15977	391	14	3	1541	3	TM9SF4	20	30745754	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	598316	30745754	32279766	4234	6299											
POFUT1	23509	broad.mit.edu	37	chr20	30803242	30803242	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagcccagataagaagacGtgccccatgaaggtgggtcc	13	11	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:30803242G>A	uc002wxp.3	+	2	466	c.417G>A	c.(415-417)acG>acA	p.T139T	POFUT1_uc002wxo.3_Silent_p.T139T|POFUT1_uc010ztt.2_Silent_p.T31T|POFUT1_uc010ztu.2_Intron	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	Homo sapiens protein O-fucosyltransferase 1 (POFUT1), transcript variant 1, mRNA.	139					Notch signaling pathway|O-glycan processing|fucose metabolic process|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATAAGAAGACGTGCCCCATGA	0.577													A	30803242	G	A	30803242	2	1	4	1	0	0	0	0	0	0	0	1	12183	1132	40	1		1	POFUT1	20	30803242	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	57488	30803242	32222278	4235	6300											
C20orf112	140688	broad.mit.edu	37	chr20	31041289	31041289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctcgtccacaaagagacGcacaaacatctgtggagaca	9	11	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:31041289G>A	uc002wxu.4	-	4	740	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C		NM_080616	NP_542183	Q96MY1	CT112_HUMAN	Homo sapiens chromosome 20 open reading frame 112 (C20orf112), mRNA.	195								p.R195C(2)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						ACAAAGAGACGCACAAACATC	0.627													A	31041289	G	A	31041289	3	1	4	1	0	0	0	0	1	0	0	0	2081	1087	38	1	743	1	C20orf112	20	31041289	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	238047	31041289	31984231	4236	6301											
C20orf112	140688	broad.mit.edu	37	chr20	31044021	31044021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaagtgccgtggccggcGggagcttgtcacacaggttg	16	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:31044021G>A	uc002wxu.4	-	2	444	c.287C>T	c.(286-288)cCg>cTg	p.P96L		NM_080616	NP_542183	Q96MY1	CT112_HUMAN	Homo sapiens chromosome 20 open reading frame 112 (C20orf112), mRNA.	96										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CGTGGCCGGCGGGAGCTTGTC	0.682													A	31044021	G	A	31044021	3	1	4	1	0	0	0	0	1	0	0	0	2081	1116	39	1	1047	1	C20orf112	20	31044021	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2732	31044021	31981499	4237	6302											
DNMT3B	1789	broad.mit.edu	37	chr20	31383281	31383281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactgccccgcacccaagcGcctcaagacaaattgctata	6	16	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:31383281G>A	uc002wyc.3	+	10	1514	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Missense_Mutation_p.R378H|DNMT3B_uc002wye.3_Missense_Mutation_p.R378H|DNMT3B_uc010ztz.2_Missense_Mutation_p.R336H|DNMT3B_uc010zua.2_Missense_Mutation_p.R302H|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.R390H|DNMT3B_uc002wyg.3_Missense_Mutation_p.R97H	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	398					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCACCCAAGCGCCTCAAGACA	0.537													A	31383281	G	A	31383281	3	1	4	1	0	0	0	0	1	0	0	0	4677	1087	38	1	1271	1	DNMT3B	20	31383281	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	339260	31383281	31642239	4238	6303											
DNMT3B	1789	broad.mit.edu	37	chr20	31386409	31386409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggaaggactggaacgtgcGcctgcaggccttcttcacca	12	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:31386409G>A	uc002wyc.3	+	14	1955	c.1634G>A	c.(1633-1635)cGc>cAc	p.R545H	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Missense_Mutation_p.R525H|DNMT3B_uc002wye.3_Missense_Mutation_p.R525H|DNMT3B_uc010ztz.2_Missense_Mutation_p.R483H|DNMT3B_uc010zua.2_Missense_Mutation_p.R449H|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.R537H|DNMT3B_uc002wyg.3_Missense_Mutation_p.R244H|DNMT3B_uc010geg.3_5'Flank|DNMT3B_uc010geh.3_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	545	ADD.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGAACGTGCGCCTGCAGGCC	0.627													A	31386409	G	A	31386409	3	1	4	1	0	0	0	0	1	0	0	0	4677	1087	38	1	1728	1	DNMT3B	20	31386409	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3128	31386409	31639111	4239	6304											
DNMT3B	1789	broad.mit.edu	37	chr20	31388002	31388002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcataaaggtaggaaagtaCgtcgcttctgaagtgtgtga	14	5	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:31388002C>T	uc002wyc.3	+	16	2124	c.1803C>T	c.(1801-1803)taC>taT	p.Y601Y	DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Silent_p.Y581Y|DNMT3B_uc002wye.3_Silent_p.Y581Y|DNMT3B_uc010ztz.2_Silent_p.Y539Y|DNMT3B_uc010zua.2_Silent_p.Y505Y|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Silent_p.Y593Y|DNMT3B_uc002wyg.3_Silent_p.Y300Y|DNMT3B_uc010geg.3_5'Flank|DNMT3B_uc010geh.3_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	601					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TAGGAAAGTACGTCGCTTCTG	0.483													T	31388002	C	T	31388002	2	4	4	1	0	0	0	0	0	0	0	1	4677	547	19	1		1	DNMT3B	20	31388002	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1593	31388002	31637518	4240	6305											
CDK5RAP1	51654	broad.mit.edu	37	chr20	31954730	31954730	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcttttgttgcttcttctcGgaagatagtgatgagttcct	11	7	2	3	rs148992921		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:31954730G>T	uc010gek.3	-	12	1643	c.1519C>A	c.(1519-1521)Cga>Aga	p.R507R	CDK5RAP1_uc002wyy.3_Silent_p.R403R|CDK5RAP1_uc002wyz.3_Silent_p.R493R|CDK5RAP1_uc002wza.3_Silent_p.R492R|CDK5RAP1_uc010gel.3_Silent_p.R403R|CDK5RAP1_uc010gem.3_Silent_p.R416R|CDK5RAP1_uc002wzc.1_Silent_p.R493R|CDK5RAP1_uc002wzb.1_Silent_p.R128R	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1 (CDK5RAP1), transcript variant 1, mRNA.	507	CDK5R1-binding.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GCTTCTTCTCGGAAGATAGTG	0.433													T	31954730	G	T	31954730	2	4	4	1	0	0	0	0	0	0	0	1	3145	1124	39	5		5	CDK5RAP1	20	31954730	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	566728	31954730	31070790	4241	6306											
CBFA2T2	9139	broad.mit.edu	37	chr20	32199012	32199012	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcactcacaaatcagcaAttgccagccacttgtggtgc	8	13	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:32199012A>G	uc002wzg.1	+	3	855	c.318A>G	c.(316-318)caA>caG	p.Q106Q	CBFA2T2_uc010zug.1_Intron|CBFA2T2_uc002wze.1_Silent_p.Q97Q|CBFA2T2_uc021wbz.1_Silent_p.Q77Q|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Silent_p.Q77Q|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	106						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CAAATCAGCAATTGCCAGCCA	0.512													G	32199012	A	G	32199012	2	3	4	1	0	0	0	0	0	0	0	1	2697	98	4	3		3	CBFA2T2	20	32199012	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	244282	32199012	30826508	4242	6307											
RALY	22913	broad.mit.edu	37	chr20	32661432	32661432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctaaagagagcagcatctgCcatatacaggtggggctgtc	13	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:32661432C>T	uc002xab.3	+	3	892	c.320C>T	c.(319-321)gCc>gTc	p.A107V	RALY_uc010zui.2_Missense_Mutation_p.A107V|RALY_uc002xac.3_Missense_Mutation_p.A107V	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	Homo sapiens RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse)) (RALY), transcript variant 1, mRNA.	107						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	RNA binding|nucleotide binding			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GCAGCATCTGCCATATACAGG	0.517													T	32661432	C	T	32661432	3	4	4	1	0	0	0	0	1	0	0	0	13019	739	26	2	326	2	RALY	20	32661432	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	462420	32661432	30364088	4243	6308											
EIF2S2	8894	broad.mit.edu	37	chr20	32677651	32677651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcactgtaggaaatagagtCgtgtgtccttctgcaggatt	12	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:32677651C>T	uc002xaf.3	-	8	1056	c.887G>A	c.(886-888)cGa>cAa	p.R296Q		NM_003908	NP_003899	P20042	IF2B_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa (EIF2S2), mRNA.	296						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity	p.R296G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						GAAATAGAGTCGTGTGTCCTT	0.493													T	32677651	C	T	32677651	3	4	4	1	0	0	0	0	1	0	0	0	5010	884	31	1	118	1	EIF2S2	20	32677651	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	16219	32677651	30347869	4244	6309											
MAP1LC3A	84557	broad.mit.edu	37	chr20	33147564	33147564	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctgcagctgaaccccacGcaggccttcttcctgctggt	10	17	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:33147564G>A	uc002xaq.1	+	3	382	c.228G>A	c.(226-228)acG>acA	p.T76T	MAP1LC3A_uc002xap.1_Silent_p.T80T	NM_032514	NP_115903	Q9H492	MLP3A_HUMAN	Homo sapiens microtubule-associated protein 1 light chain 3 alpha (MAP1LC3A), transcript variant 1, mRNA.	76					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						TGAACCCCACGCAGGCCTTCT	0.632													A	33147564	G	A	33147564	2	1	4	1	0	0	0	0	0	0	0	1	9230	1074	38	1		1	MAP1LC3A	20	33147564	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	469913	33147564	29877956	4245	6310											
MYH7B	57644	broad.mit.edu	37	chr20	33568472	33568472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcttacaagggaaagcGccgctcagattccccgcccc	11	16	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:33568472G>A	uc002xbi.2	+	7	877	c.560G>A	c.(559-561)cGc>cAc	p.R187H	MYH7B_uc010gfa.1_Missense_Mutation_p.R145H	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	145	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AAGGGAAAGCGCCGCTCAGAT	0.582													A	33568472	G	A	33568472	3	1	4	1	0	0	0	0	1	0	0	0	10040	1087	38	1	582	1	MYH7B	20	33568472	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	420908	33568472	29457048	4246	6311											
PROCR	10544	broad.mit.edu	37	chr20	33764049	33764049	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatgtcttcttcgaagtggCtgtgaatgggagctcctttg	12	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:33764049C>A	uc002xbt.3	+	2	585	c.401C>A	c.(400-402)gCt>gAt	p.A134D	EDEM2_uc010zuv.1_Intron	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	Homo sapiens protein C receptor, endothelial (PROCR), mRNA.	134					antigen processing and presentation|blood coagulation|immune response	MHC class I protein complex|integral to plasma membrane	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	TTCGAAGTGGCTGTGAATGGG	0.602													A	33764049	C	A	33764049	3	1	4	1	0	0	0	0	1	0	0	0	12547	797	28	5	411	5	PROCR	20	33764049	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	195577	33764049	29261471	4247	6312											
CEP250	11190	broad.mit.edu	37	chr20	34060620	34060620	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaggctcttactctggtGcgttcagtgctgactcggag	13	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:34060620G>A	uc021wco.1	+	11	1820	c.1173G>A	c.(1171-1173)gtG>gtA	p.V391V	CEP250_uc010zve.2_5'UTR|CEP250_uc010zvd.2_Non-coding_Transcript	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	391					G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TTACTCTGGTGCGTTCAGTGC	0.507													A	34060620	G	A	34060620	2	1	4	1	0	0	0	0	0	0	0	1	3252	1306	46	2		2	CEP250	20	34060620	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	296571	34060620	28964900	4248	6313											
CEP250	11190	broad.mit.edu	37	chr20	34091280	34091280	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagctgtccttgagagagCgaggccgggagctgaccact	14	11	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:34091280C>T	uc021wco.1	+	29	5730	c.5083C>T	c.(5083-5085)Cga>Tga	p.R1695*	CEP250_uc010zve.2_Nonsense_Mutation_p.R1063*	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1695	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTTGAGAGAGCGAGGCCGGGA	0.592													T	34091280	C	T	34091280	4	4	4	1	0	0	0	0	0	1	0	0	3252	760	27	1	5189	1	CEP250	20	34091280	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	30660	34091280	28934240	4249	6314											
NFS1	9054	broad.mit.edu	37	chr20	34262504	34262504	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcattatattctgtatcagCcgctctgacaactttgagat	6	9	4	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:34262504C>A	uc002xdw.2	-	8	1061	c.984G>T	c.(982-984)cgG>cgT	p.R328R	CPNE1_uc002xdn.1_5'Flank|CPNE1_uc002xdo.1_5'Flank|CPNE1_uc002xdp.1_Non-coding_Transcript|NFS1_uc002xdt.2_Silent_p.R268R|NFS1_uc010zvl.2_Silent_p.R277R|NFS1_uc010zvk.2_Silent_p.R126R	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	Homo sapiens NFS1 nitrogen fixation 1 homolog (S. cerevisiae) (NFS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	328					Mo-molybdopterin cofactor biosynthetic process|cysteine metabolic process|iron incorporation into metallo-sulfur cluster|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TCTGTATCAGCCGCTCTGACA	0.448													A	34262504	C	A	34262504	2	1	4	1	0	0	0	0	0	0	0	1	10385	726	26	5		5	NFS1	20	34262504	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	171224	34262504	28763016	4250	6315											
ROMO1	140823	broad.mit.edu	37	chr20	34288780	34288780	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaccatgatgcagagtggCggcacctttggcacattcat	10	10	1	2	rs149152641		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:34288780C>T	uc002xdy.3	+	2	339	c.192C>T	c.(190-192)ggC>ggT	p.G64G	NFS1_uc002xdt.2_5'Flank|NFS1_uc010zvl.2_5'Flank|NFS1_uc010zvk.2_5'Flank|NFS1_uc002xdw.2_5'Flank|NFS1_uc002xdx.3_5'Flank|ROMO1_uc010gfm.3_Silent_p.G64G	NM_080748	NP_542786	P60602	ROMO1_HUMAN	Homo sapiens reactive oxygen species modulator 1 (ROMO1), nuclear gene encoding mitochondrial protein, mRNA.	64					cellular response to reactive oxygen species|positive regulation of cell proliferation|positive regulation of reactive oxygen species metabolic process|replicative cell aging	integral to membrane|mitochondrial membrane				cervix(1)	1						TGCAGAGTGGCGGCACCTTTG	0.522													T	34288780	C	T	34288780	2	4	4	1	0	0	0	0	0	0	0	1	13522	755	27	1		1	ROMO1	20	34288780	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	26276	34288780	28736740	4251	6316											
PHF20	51230	broad.mit.edu	37	chr20	34526851	34526851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcattgctaccagaagcccCgcgcctattaccctgccgtg	9	16	0	1	rs144252568		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:34526851C>T	uc002xek.1	+	15	2644	c.2533C>T	c.(2533-2535)Cgc>Tgc	p.R845C		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	845					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CCAGAAGCCCCGCGCCTATTA	0.622													T	34526851	C	T	34526851	3	4	4	1	0	0	0	0	1	0	0	0	11831	652	23	1	2591	1	PHF20	20	34526851	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	238071	34526851	28498669	4252	6317											
EPB41L1	2036	broad.mit.edu	37	chr20	34773105	34773105	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccatgctcctttgtcacGcatgccctactgggctccta	8	16	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:34773105G>A	uc002xfb.3	+	6	804	c.633G>A	c.(631-633)acG>acA	p.T211T	EPB41L1_uc002xeu.3_Silent_p.T149T|EPB41L1_uc010zvo.1_Silent_p.T211T|EPB41L1_uc002xev.3_Silent_p.T211T|EPB41L1_uc002xew.3_Silent_p.T114T|EPB41L1_uc002xex.3_Silent_p.T180T|EPB41L1_uc002xey.3_Intron|EPB41L1_uc002xez.3_Silent_p.T149T	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	211	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CCTTTGTCACGCATGCCCTAC	0.612													A	34773105	G	A	34773105	2	1	4	1	0	0	0	0	0	0	0	1	5152	1074	38	1		1	EPB41L1	20	34773105	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	246254	34773105	28252415	4253	6318											
C20orf132	140699	broad.mit.edu	37	chr20	35748936	35748937	+	Frame_Shift_Del	DEL	TA	TA	-													aaagcctgcagatgtgagttTatgtttatcattccctcggt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:35748935_35748936TTA>T	uc010zvu.2	-	17	2291_2292	c.2200_2201TAA>A	c.(2200-2202)aaafs	p.K734fs	C20orf132_uc002xgk.3_Frame_Shift_Del_p.K366fs	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	303										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				AGATGTGAGTTTATGTTTATCA	0.436													-	35748937	TA	-	35748936	7	5	4	1	0	1	0	1	0	0	0	0	2086	1763	61	0	960	0	C20orf132	20	35748936	Frame_Shift_Del	DEL	TA	TCGA-BR-4184-01A-01D-1126-08	975831	35748936	27276584	4254	6319											
C20orf132	140699	broad.mit.edu	37	chr20	35788560	35788560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactggacagagaatgcgggCgttcctcttgtaccagtacc	11	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:35788560C>T	uc010zvu.2	-	6	759	c.668G>A	c.(667-669)cGc>cAc	p.R223H	C20orf132_uc002xgk.3_5'Flank|C20orf132_uc002xgm.2_Missense_Mutation_p.R223H|C20orf132_uc002xgn.2_Missense_Mutation_p.R223H	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	143										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				AGAATGCGGGCGTTCCTCTTG	0.542													T	35788560	C	T	35788560	3	4	4	1	0	0	0	0	1	0	0	0	2086	768	27	1	2548	1	C20orf132	20	35788560	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	39624	35788560	27236960	4255	6320											
CTNNBL1	56259	broad.mit.edu	37	chr20	36500377	36500377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccggagttccgggagaacGagcaaaagcgcatcctgggc	15	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:36500377G>A	uc021wdj.1	+	15	1745	c.1654G>A	c.(1654-1656)Gag>Aag	p.E552K	CTNNBL1_uc002xhh.3_Missense_Mutation_p.E365K|CTNNBL1_uc002xhi.3_Non-coding_Transcript|CTNNBL1_uc002xhj.3_Missense_Mutation_p.E300K	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	Homo sapiens catenin, beta like 1 (CTNNBL1), mRNA.	552					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CCGGGAGAACGAGCAAAAGCG	0.577													A	36500377	G	A	36500377	3	1	4	1	0	0	0	0	1	0	0	0	4018	1059	37	1	1716	1	CTNNBL1	20	36500377	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	711817	36500377	26525143	4256	6321											
TGM2	7052	broad.mit.edu	37	chr20	36779458	36779458	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtccaggtacacagcatcCgctgcaggcaggaagaaagg	14	10	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:36779458C>T	uc002xhr.3	-	4	534	c.434_splice	c.e4-1	p.A145_splice	TGM2_uc010zvx.2_Splice_Site_p.A64_splice|TGM2_uc010zvy.2_Splice_Site_p.A85_splice|TGM2_uc002xhs.1_Splice_Site_p.A121_splice|TGM2_uc002xht.3_Splice_Site_p.A145_splice|TGM2_uc002xhu.3_Splice_Site_p.A145_splice	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	145					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	ACACAGCATCCGCTGCAGGCA	0.587													T	36779458	C	T	36779458	5	4	4	1	0	0	0	0	0	0	1	0	15827	666	23	1	1700	1	TGM2	20	36779458	Splice_Site	SNP	C	TCGA-BR-4184-01A-01D-1126-08	279081	36779458	26246062	4257	6322											
KIAA1755	85449	broad.mit.edu	37	chr20	36869866	36869866	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaagcacctggttgtctgGggagctggcctggtgcaact	16	9	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:36869866G>T	uc002xhy.1	-	2	939	c.667C>A	c.(667-669)Cca>Aca	p.P223T	KIAA1755_uc002xhz.1_Missense_Mutation_p.P223T	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	223										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGGTTGTCTGGGGAGCTGGCC	0.587													T	36869866	G	T	36869866	3	4	4	1	0	0	0	0	1	0	0	0	8257	1232	43	5	2983	5	KIAA1755	20	36869866	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	90408	36869866	26155654	4258	6323											
RALGAPB	57148	broad.mit.edu	37	chr20	37146233	37146233	+	Frame_Shift_Del	DEL	C	C	-													aagtgctgctgtcagtaccaCccccccacataaccggaggc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:37146232_37146232AC>A	uc002xiw.3	+	7	1392	c.1135_1135AC>A	c.(1135-1137)accfs	p.T379fs	RALGAPB_uc010zvz.1_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xix.3_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xiy.1_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xiz.3_Frame_Shift_Del_p.T157fs|RALGAPB_uc002xja.1_Frame_Shift_Del_p.T106fs	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	379					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACA	0.443													-	37146233	C	-	37146233	7	5	4	1	0	1	0	1	0	0	0	0	13015	507	18	0	1162	0	RALGAPB	20	37146233	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	276367	37146233	25879287	4259	6324											
RALGAPB	57148	broad.mit.edu	37	chr20	37168459	37168459	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggagaccggaagcgagccaTcagttctgtgtgcacctaca	12	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:37168459T>A	uc002xiw.3	+	16	2677	c.2420T>A	c.(2419-2421)aTc>aAc	p.I807N	RALGAPB_uc002xix.3_Missense_Mutation_p.I803N|RALGAPB_uc002xiy.1_Missense_Mutation_p.I807N|RALGAPB_uc002xiz.3_Missense_Mutation_p.I585N|RALGAPB_uc002xja.1_Missense_Mutation_p.I534N	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	807					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AAGCGAGCCATCAGTTCTGTG	0.453													A	37168459	T	A	37168459	3	1	4	1	0	0	0	0	1	0	0	0	13015	1435	50	5	2482	5	RALGAPB	20	37168459	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	22226	37168459	25857061	4260	6325											
RALGAPB	57148	broad.mit.edu	37	chr20	37194098	37194098	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacagaaattgcttttgtggTtccttctcctgtggagtcct	9	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:37194098T>C	uc002xiw.3	+	24	4051	c.3794T>C	c.(3793-3795)gTt>gCt	p.V1265A	RALGAPB_uc002xix.3_Missense_Mutation_p.V1262A|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.3_Missense_Mutation_p.V1044A	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	1265	Rap-GAP.				activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GCTTTTGTGGTTCCTTCTCCT	0.383													C	37194098	T	C	37194098	3	2	4	1	0	0	0	0	1	0	0	0	13015	1725	60	3	3888	3	RALGAPB	20	37194098	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	25639	37194098	25831422	4261	6326											
SLC32A1	140679	broad.mit.edu	37	chr20	37353656	37353656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctcctctgccgccctccGgctccaaggaccaggtggga	13	16	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:37353656G>A	uc002xjc.3	+	0	552	c.289G>A	c.(289-291)Ggc>Agc	p.G97S		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	97					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCCGCCCTCCGGCTCCAAGGA	0.667													A	37353656	G	A	37353656	3	1	4	1	0	0	0	0	1	0	0	0	14565	1116	39	1	291	1	SLC32A1	20	37353656	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	159558	37353656	25671864	4262	6327											
SLC32A1	140679	broad.mit.edu	37	chr20	37356122	37356122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgctgggcctaccctacGccatcctgcacggcggctac	11	17	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:37356122G>A	uc002xjc.3	+	1	681	c.418G>A	c.(418-420)Gcc>Acc	p.A140T		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	140					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	p.Y139C(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CCTACCCTACGCCATCCTGCA	0.647													A	37356122	G	A	37356122	3	1	4	1	0	0	0	0	1	0	0	0	14565	1087	38	1	424	1	SLC32A1	20	37356122	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2466	37356122	25669398	4263	6328											
SLC32A1	140679	broad.mit.edu	37	chr20	37356232	37356232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtacgaggagaatgaagaCggcgaggtggtgcgcgtgcg	19	7	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:37356232C>T	uc002xjc.3	+	1	791	c.528C>T	c.(526-528)gaC>gaT	p.D176D		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	176					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AGAATGAAGACGGCGAGGTGG	0.647													T	37356232	C	T	37356232	2	4	4	1	0	0	0	0	0	0	0	1	14565	535	19	1		1	SLC32A1	20	37356232	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	110	37356232	25669288	4264	6329											
SLC32A1	140679	broad.mit.edu	37	chr20	37357187	37357187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaagtcttcttcgacgtcGccatcttcgtcatcggcggc	9	15	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:37357187G>A	uc002xjc.3	+	1	1746	c.1483G>A	c.(1483-1485)Gcc>Acc	p.A495T		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	495					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	p.A495T(2)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTTCGACGTCGCCATCTTCGT	0.647													A	37357187	G	A	37357187	3	1	4	1	0	0	0	0	1	0	0	0	14565	1087	38	1	1489	1	SLC32A1	20	37357187	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	955	37357187	25668333	4265	6330											
ACTR5	79913	broad.mit.edu	37	chr20	37380797	37380797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgctaaaaactgcaagcGcatcaatcttggaggaagcc	10	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:37380797G>A	uc002xjd.2	+	2	654	c.629G>A	c.(628-630)cGc>cAc	p.R210H		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	Homo sapiens ARP5 actin-related protein 5 homolog (yeast) (ACTR5), mRNA.	210					DNA recombination|UV-damage excision repair|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|cytoplasm	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				AACTGCAAGCGCATCAATCTT	0.493													A	37380797	G	A	37380797	3	1	4	1	0	0	0	0	1	0	0	0	215	1087	38	1	639	1	ACTR5	20	37380797	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	23610	37380797	25644723	4266	6331											
PPP1R16B	26051	broad.mit.edu	37	chr20	37531340	37531340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagaaaatcaacgagatgCgggtggctcctgagcagcag	14	8	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:37531340C>T	uc002xje.3	+	5	790	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	PPP1R16B_uc010ggc.3_Missense_Mutation_p.R201W	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	201					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAACGAGATGCGGGTGGCTCC	0.582													T	37531340	C	T	37531340	3	4	4	1	0	0	0	0	1	0	0	0	12366	759	27	1	619	1	PPP1R16B	20	37531340	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	150543	37531340	25494180	4267	6332											
DHX35	60625	broad.mit.edu	37	chr20	37634988	37634988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctcgggaaaatgttatcGcctttatacaggttagtgtg	11	7	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:37634988G>A	uc002xjh.3	+	11	1241	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	DHX35_uc010zwa.2_Missense_Mutation_p.R249H|DHX35_uc010zwc.2_Missense_Mutation_p.R373H|DHX35_uc010zwb.2_Missense_Mutation_p.R249H	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	404	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.R404H(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AAATGTTATCGCCTTTATACA	0.478													A	37634988	G	A	37634988	3	1	4	1	0	0	0	0	1	0	0	0	4508	1087	38	1	1257	1	DHX35	20	37634988	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	103648	37634988	25390532	4268	6333											
DHX35	60625	broad.mit.edu	37	chr20	37653971	37653971	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caattgaaaaagcttcttgtCaagtttcaagtgcccaggaa	8	8	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:37653971C>A	uc002xjh.3	+	17	1800	c.1770C>A	c.(1768-1770)gtC>gtA	p.V590V	DHX35_uc010zwa.2_Silent_p.V435V|DHX35_uc010zwc.2_Silent_p.V559V|DHX35_uc010zwb.2_Silent_p.V435V	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	590						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AGCTTCTTGTCAAGTTTCAAG	0.438													A	37653971	C	A	37653971	2	1	4	1	0	0	0	0	0	0	0	1	4508	813	29	5		5	DHX35	20	37653971	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	18983	37653971	25371549	4269	6334											
PLCG1	5335	broad.mit.edu	37	chr20	39798904	39798904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtggcccagacagcagacGccagggtgagattctgctgg	15	10	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:39798904G>A	uc002xjp.1	+	23	2924	c.2803G>A	c.(2803-2805)Gcc>Acc	p.A935T	PLCG1_uc002xjo.1_Missense_Mutation_p.A935T|PLCG1_uc010zwe.1_Missense_Mutation_p.A561T|PLCG1_uc010ggf.3_Missense_Mutation_p.A259T	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	935					T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GACAGCAGACGCCAGGGTGAG	0.647													A	39798904	G	A	39798904	3	1	4	1	0	0	0	0	1	0	0	0	12035	1087	38	1	2897	1	PLCG1	20	39798904	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2144933	39798904	23226616	4270	6335											
ZHX3	23051	broad.mit.edu	37	chr20	39831218	39831218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtctggacaaagagctgcCgcagcaagtgccgctgctgg	15	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:39831218C>T	uc010ggg.1	-	0	2489	c.2339G>A	c.(2338-2340)cGg>cAg	p.R780Q	ZHX3_uc002xjr.1_Missense_Mutation_p.R780Q|ZHX3_uc002xjs.1_Missense_Mutation_p.R780Q|ZHX3_uc002xjt.1_Missense_Mutation_p.R780Q|ZHX3_uc002xju.1_Missense_Mutation_p.R780Q|ZHX3_uc002xjv.1_Missense_Mutation_p.R780Q|ZHX3_uc002xjw.1_Missense_Mutation_p.R780Q	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	Homo sapiens zinc fingers and homeoboxes 3 (ZHX3), mRNA.	780					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AAAGAGCTGCCGCAGCAAGTG	0.587													T	39831218	C	T	39831218	3	4	4	1	0	0	0	0	1	0	0	0	17674	652	23	1	539	1	ZHX3	20	39831218	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	32314	39831218	23194302	4271	6336											
ZHX3	23051	broad.mit.edu	37	chr20	39831460	39831460	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcaccagagacccttagCtcactggccaaatcctcttc	5	15	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:39831460C>T	uc010ggg.1	-	0	2247	c.2097G>A	c.(2095-2097)gaG>gaA	p.E699E	ZHX3_uc002xjr.1_Silent_p.E699E|ZHX3_uc002xjs.1_Silent_p.E699E|ZHX3_uc002xjt.1_Silent_p.E699E|ZHX3_uc002xju.1_Silent_p.E699E|ZHX3_uc002xjv.1_Silent_p.E699E|ZHX3_uc002xjw.1_Silent_p.E699E	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	Homo sapiens zinc fingers and homeoboxes 3 (ZHX3), mRNA.	699					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AGACCCTTAGCTCACTGGCCA	0.517													T	39831460	C	T	39831460	2	4	4	1	0	0	0	0	0	0	0	1	17674	796	28	2		2	ZHX3	20	39831460	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	242	39831460	23194060	4272	6337											
EMILIN3	90187	broad.mit.edu	37	chr20	39993728	39993728	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cactgccggtattcagccttTacgtagctctccgctccctc	7	17	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:39993728T>A	uc002xjy.1	-	1	461	c.237A>T	c.(235-237)gtA>gtT	p.V79V		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	79	EMI.					proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				ATTCAGCCTTTACGTAGCTCT	0.572													A	39993728	T	A	39993728	2	1	4	1	0	0	0	0	0	0	0	1	5095	1741	61	5		5	EMILIN3	20	39993728	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	162268	39993728	23031792	4273	6338											
CHD6	84181	broad.mit.edu	37	chr20	40050618	40050618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcagctgagggcacttgaGcacttgctctcggactttcc	11	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:40050618G>A	uc002xka.1	-	30	4835	c.4657C>T	c.(4657-4659)Ctc>Ttc	p.L1553F		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1553					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGGCACTTGAGCACTTGCTCT	0.557													A	40050618	G	A	40050618	3	1	4	1	0	0	0	0	1	0	0	0	3329	971	34	2	3518	2	CHD6	20	40050618	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	56890	40050618	22974902	4274	6339											
CHD6	84181	broad.mit.edu	37	chr20	40111989	40111989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctaggatgtcgaggcagcGcaccatctgggagaagatga	14	8	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:40111989G>A	uc002xka.1	-	15	2606	c.2428C>T	c.(2428-2430)Cgc>Tgc	p.R810C	CHD6_uc002xkd.2_Missense_Mutation_p.R788C	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	810	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCGAGGCAGCGCACCATCTGG	0.463													A	40111989	G	A	40111989	3	1	4	1	0	0	0	0	1	0	0	0	3329	1087	38	1	5807	1	CHD6	20	40111989	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	61371	40111989	22913531	4275	6340											
CHD6	84181	broad.mit.edu	37	chr20	40120415	40120415	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttactgttcttatactcGcgagacttctcaagtttctg	8	9	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:40120415G>A	uc002xka.1	-	10	1537	c.1359C>T	c.(1357-1359)cgC>cgT	p.R453R	CHD6_uc002xkd.2_Silent_p.R431R	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	453					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCTTATACTCGCGAGACTTCT	0.468													A	40120415	G	A	40120415	2	1	4	1	0	0	0	0	0	0	0	1	3329	1074	38	1		1	CHD6	20	40120415	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	8426	40120415	22905105	4276	6341											
PTPRT	11122	broad.mit.edu	37	chr20	40714491	40714491	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcaggccagtactgcatacaGaactgagataaggaaagagg	12	7	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:40714491G>T	uc002xkg.3	-	27	4033	c.3849C>A	c.(3847-3849)ttC>ttA	p.F1283L	PTPRT_uc010ggj.3_Missense_Mutation_p.F1302L|PTPRT_uc010ggi.3_Missense_Mutation_p.F486L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1283	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			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACTGCATACAGAACTGAGATA	0.473													T	40714491	G	T	40714491	3	4	4	1	0	0	0	0	1	0	0	0	12812	933	33	5	492	5	PTPRT	20	40714491	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	594076	40714491	22311029	4277	6342											
PTPRT	11122	broad.mit.edu	37	chr20	41400120	41400120	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccacttcccaccagcaatGcactgaaatgtggcattctg	8	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:41400120G>A	uc002xkg.3	-	4	823	c.639C>T	c.(637-639)tgC>tgT	p.C213C	PTPRT_uc010ggj.3_Silent_p.C213C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	213	Ig-like C2-type.				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			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACCAGCAATGCACTGAAATG	0.473													A	41400120	G	A	41400120	2	1	4	1	0	0	0	0	0	0	0	1	12812	1311	46	2		2	PTPRT	20	41400120	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	685629	41400120	21625400	4278	6343											
MYBL2	4605	broad.mit.edu	37	chr20	42311438	42311438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgttcttttcccagaaccGcactgaccagcaatgccagt	7	14	2	2	rs149840592		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:42311438G>A	uc002xlb.1	+	3	406	c.191G>A	c.(190-192)cGc>cAc	p.R64H	MYBL2_uc010zwj.1_Missense_Mutation_p.R40H	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	64	HTH myb-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCCCAGAACCGCACTGACCAG	0.527													A	42311438	G	A	42311438	3	1	4	1	0	0	0	0	1	0	0	0	10010	1087	38	1	205	1	MYBL2	20	42311438	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	911318	42311438	20714082	4279	6344											
MYBL2	4605	broad.mit.edu	37	chr20	42338670	42338670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccaaccccgttcaagaacGccctggagaagtacggaccc	10	16	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:42338670G>A	uc002xlb.1	+	9	1788	c.1573G>A	c.(1573-1575)Gcc>Acc	p.A525T	MYBL2_uc010zwj.1_Missense_Mutation_p.A501T	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	525						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GTTCAAGAACGCCCTGGAGAA	0.582													A	42338670	G	A	42338670	3	1	4	1	0	0	0	0	1	0	0	0	10010	1087	38	1	1611	1	MYBL2	20	42338670	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	27232	42338670	20686850	4280	6345											
JPH2	57158	broad.mit.edu	37	chr20	42815111	42815111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcccttgtagagccagcGccccttggtctctatgccca	9	17	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:42815111G>A	uc002xli.1	-	0	1108	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C	JPH2_uc002xlj.3_Missense_Mutation_p.R79C	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	79	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TAGAGCCAGCGCCCCTTGGTC	0.597													A	42815111	G	A	42815111	3	1	4	1	0	0	0	0	1	0	0	0	7961	1087	38	1	1890	1	JPH2	20	42815111	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	476441	42815111	20210409	4281	6346											
PABPC1L	80336	broad.mit.edu	37	chr20	43559194	43559194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgacagagatgaacgggCgcatcgtgggcaccaagcca	14	12	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:43559194C>T	uc010ggv.1	+	7	1148	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	PABPC1L_uc010zwq.1_Non-coding_Transcript|PABPC1L_uc002xmv.2_Non-coding_Transcript|PABPC1L_uc002xmw.2_5'Flank|PABPC1L_uc002xmx.3_5'Flank	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1-like (PABPC1L), mRNA.	356	RRM 4.						RNA binding|nucleotide binding	p.R356C(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GATGAACGGGCGCATCGTGGG	0.577													T	43559194	C	T	43559194	3	4	4	1	0	0	0	0	1	0	0	0	11364	768	27	1	1096	1	PABPC1L	20	43559194	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	744083	43559194	19466326	4282	6347											
STK4	6789	broad.mit.edu	37	chr20	43607098	43607098	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtataggtcctatggcagcgTatacaaagctattcataaag	9	7	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:43607098T>C	uc002xnb.3	+	2	221	c.131T>C	c.(130-132)gTa>gCa	p.V44A	STK4_uc010ggx.3_Missense_Mutation_p.V44A|STK4_uc010ggy.3_Missense_Mutation_p.V44A|STK4_uc010ggw.1_Missense_Mutation_p.V44A	NM_006282	NP_006273	Q13043	STK4_HUMAN	Homo sapiens serine/threonine kinase 4 (STK4), mRNA.	44	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TATGGCAGCGTATACAAAGCT	0.378													C	43607098	T	C	43607098	3	2	4	1	0	0	0	0	1	0	0	0	15305	1638	57	3	141	3	STK4	20	43607098	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	47904	43607098	19418422	4283	6348											
RBPJL	11317	broad.mit.edu	37	chr20	43940918	43940918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagacaagaggaagcactttCggctggtgctgcggctggtg	16	9	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:43940918C>T	uc002xns.3	+	5	574	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	RBPJL_uc002xnt.3_Missense_Mutation_p.R168W	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	168					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GAAGCACTTTcggctggtgct	0.617													T	43940918	C	T	43940918	3	4	4	1	0	0	0	0	1	0	0	0	13162	875	31	1	524	1	RBPJL	20	43940918	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	333820	43940918	19084602	4284	6349											
ZNF335	63925	broad.mit.edu	37	chr20	44592274	44592274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcaaaagtggtttgggCgacttgtaatagtacctgca	12	8	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:44592274C>T	uc002xqw.3	-	8	1494	c.1371G>A	c.(1369-1371)tcG>tcA	p.S457S	ZNF335_uc010zxk.2_Silent_p.S302S	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GTGGTTTGGGCGACTTGTAAT	0.577													T	44592274	C	T	44592274	2	4	4	1	0	0	0	0	0	0	0	1	17849	755	27	1		1	ZNF335	20	44592274	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	651356	44592274	18433246	4285	6350											
SLC12A5	57468	broad.mit.edu	37	chr20	44678261	44678261	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactctgcacactcttcagGccacagctgctggtgctggt	11	13	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:44678261G>A	uc010zxl.1	+	17	2158	c.2082_splice	c.e17-1	p.R694_splice	SLC12A5_uc010zxm.1_Splice_Site|SLC12A5_uc002xrb.2_Splice_Site_p.R671_splice	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	694					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACTCTTCAGGCCACAGCTGC	0.552													A	44678261	G	A	44678261	5	1	4	1	0	0	0	0	0	0	1	0	14386	1217	42	2	2204	2	SLC12A5	20	44678261	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	85987	44678261	18347259	4286	6351											
SLC12A5	57468	broad.mit.edu	37	chr20	44680471	44680471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctggccccgcaactggcGccagaaggaagatcatcaga	13	12	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:44680471G>A	uc010zxl.1	+	17	2484	c.2408G>A	c.(2407-2409)cGc>cAc	p.R803H	SLC12A5_uc002xrb.2_Missense_Mutation_p.R780H	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	803					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CGCAACTGGCGCCAGAAGGAA	0.617													A	44680471	G	A	44680471	3	1	4	1	0	0	0	0	1	0	0	0	14386	1087	38	1	2534	1	SLC12A5	20	44680471	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2210	44680471	18345049	4287	6352											
SLC12A5	57468	broad.mit.edu	37	chr20	44685882	44685882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgaagaaatcccgggacGccaagcttgttttgctcaac	10	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:44685882G>A	uc010zxl.1	+	24	3344	c.3268G>A	c.(3268-3270)Gcc>Acc	p.A1090T	SLC12A5_uc002xrb.2_Missense_Mutation_p.A1067T	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	1090					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATCCCGGGACGCCAAGCTTGT	0.577													A	44685882	G	A	44685882	3	1	4	1	0	0	0	0	1	0	0	0	14386	1087	38	1	3422	1	SLC12A5	20	44685882	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5411	44685882	18339638	4288	6353											
NCOA5	57727	broad.mit.edu	37	chr20	44695817	44695817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgttcctcacgtttcaaaCgctctgcaaaacaccaccag	6	16	3	0	rs138863222	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:44695817C>T	uc002xrd.3	-	3	1034	c.506G>A	c.(505-507)cGt>cAt	p.R169H	NCOA5_uc002xrc.3_Missense_Mutation_p.R57H|NCOA5_uc002xre.3_Missense_Mutation_p.R169H	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				ACGTTTCAAACGCTCTGCAAA	0.433													T	44695817	C	T	44695817	3	4	4	1	0	0	0	0	1	0	0	0	10232	536	19	1	1249	1	NCOA5	20	44695817	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	9935	44695817	18329703	4289	6354											
NCOA5	57727	broad.mit.edu	37	chr20	44698981	44698981	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacgtcccgaacgtcgcgcAcactcctgctgtctctgtga	9	16	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:44698981A>G	uc002xrd.3	-	1	761	c.233T>C	c.(232-234)gTg>gCg	p.V78A	NCOA5_uc002xrc.3_5'UTR|NCOA5_uc002xre.3_Missense_Mutation_p.V78A	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	78	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AACGTCGCGCACACTCCTGCT	0.552													G	44698981	A	G	44698981	3	3	4	1	0	0	0	0	1	0	0	0	10232	159	6	3	1530	3	NCOA5	20	44698981	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	3164	44698981	18326539	4290	6355											
CDH22	64405	broad.mit.edu	37	chr20	44845612	44845612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctcgcggtcaaggtcagGcacagccgtccggattacgc	13	14	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:44845612G>A	uc002xrm.2	-	3	1090	c.691C>T	c.(691-693)Cct>Tct	p.P231S	CDH22_uc010ghk.1_Missense_Mutation_p.P231S|CDH22_uc002xrn.2_5'UTR	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	231	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCAAGGTCAGGCACAGCCGTC	0.657													A	44845612	G	A	44845612	3	1	4	1	0	0	0	0	1	0	0	0	3107	1203	42	2	1827	2	CDH22	20	44845612	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	146631	44845612	18179908	4291	6356											
ELMO2	63916	broad.mit.edu	37	chr20	45003964	45003964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgctaggatcagactctgCgtcaaatgcaatcctcctca	7	12	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:45003964C>T	uc010zxr.1	-	13	1222	c.1012G>A	c.(1012-1014)Gca>Aca	p.A338T	ELMO2_uc010zxq.1_Missense_Mutation_p.A58T|ELMO2_uc002xrs.1_Missense_Mutation_p.A73T|ELMO2_uc002xrt.1_Missense_Mutation_p.A326T|ELMO2_uc002xru.1_Missense_Mutation_p.A326T|ELMO2_uc010zxs.1_Missense_Mutation_p.A143T|ELMO2_uc002xrv.1_Missense_Mutation_p.A45T|ELMO2_uc002xrw.3_Missense_Mutation_p.A143T|ELMO2_uc002xrx.1_Missense_Mutation_p.A326T	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.	326	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	SH3 domain binding|lyase activity|receptor tyrosine kinase binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TCAGACTCTGCGTCAAATGCA	0.493													T	45003964	C	T	45003964	3	4	4	1	0	0	0	0	1	0	0	0	5066	768	27	1	1226	1	ELMO2	20	45003964	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	158352	45003964	18021556	4292	6357											
ZNF334	55713	broad.mit.edu	37	chr20	45130769	45130769	+	Frame_Shift_Del	DEL	T	T	-													cattcactacattcatagggTttttcccctgtgtgaattct					rs141823361	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:45130768_45130768GT>G	uc002xsa.3	-	3	1741	c.1279_1279AC>C	c.(1279-1281)cccfs	p.P427fs	ZNF334_uc002xsb.3_Frame_Shift_Del_p.P366fs|ZNF334_uc002xsd.3_Frame_Shift_Del_p.P366fs|ZNF334_uc002xsc.3_Frame_Shift_Del_p.P404fs|ZNF334_uc010ghl.3_Frame_Shift_Del_p.P403fs			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CATTCATAGGGTTTTTCCCCT	0.438													-	45130769	T	-	45130769	7	5	4	1	0	1	0	1	0	0	0	0	17848	1722	60	0	837	0	ZNF334	20	45130769	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	126805	45130769	17894751	4293	6358											
SLC13A3	64849	broad.mit.edu	37	chr20	45212284	45212284	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatggtgacaatagccacGccggtgacagcatcagaaag	12	9	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:45212284G>A	uc002xsf.2	-	8	1186	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	SLC13A3_uc010ghn.2_Silent_p.G351G|SLC13A3_uc010zxx.2_Silent_p.G284G|SLC13A3_uc010zxw.2_Silent_p.G332G|SLC13A3_uc002xsg.2_Silent_p.G335G|SLC13A3_uc010gho.2_Silent_p.G300G|SLC13A3_uc010zxv.2_Missense_Mutation_p.A5V	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	382						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CAATAGCCACGCCGGTGACAG	0.532													A	45212284	G	A	45212284	2	1	4	1	0	0	0	0	0	0	0	1	14393	1074	38	1		1	SLC13A3	20	45212284	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	81515	45212284	17813236	4294	6359											
EYA2	2139	broad.mit.edu	37	chr20	45702898	45702898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcagcatctgcccttcGcccctctccacgtccaccta	6	21	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:45702898G>A	uc002xsm.3	+	6	959	c.585G>A	c.(583-585)tcG>tcA	p.S195S	EYA2_uc010ghp.3_Silent_p.S195S|EYA2_uc002xsq.3_Silent_p.S195S	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	195					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	p.P194T(1)|p.S195L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TCTGCCCTTCGCCCCTCTCCA	0.617													A	45702898	G	A	45702898	2	1	4	1	0	0	0	0	0	0	0	1	5329	1074	38	1		1	EYA2	20	45702898	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	490614	45702898	17322622	4295	6360											
ZMYND8	23613	broad.mit.edu	37	chr20	45910870	45910870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgttgtccaaagaatcggGcatcgacctgcccgtcttta	9	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:45910870G>A	uc010zxy.1	-	9	1077	c.995C>T	c.(994-996)gCc>gTc	p.A332V	ZMYND8_uc010ghr.1_Missense_Mutation_p.A280V|ZMYND8_uc002xst.1_Missense_Mutation_p.A280V|ZMYND8_uc002xsu.1_Missense_Mutation_p.A305V|ZMYND8_uc002xsv.1_Missense_Mutation_p.A280V|ZMYND8_uc002xsw.1_Missense_Mutation_p.A57V|ZMYND8_uc002xsx.1_Missense_Mutation_p.A57V|ZMYND8_uc002xsy.1_Missense_Mutation_p.A280V|ZMYND8_uc002xsz.1_Missense_Mutation_p.A242V|ZMYND8_uc002xta.1_Missense_Mutation_p.A305V|ZMYND8_uc002xtb.1_Missense_Mutation_p.A325V|ZMYND8_uc002xss.2_Missense_Mutation_p.A305V|ZMYND8_uc010zxz.1_Missense_Mutation_p.A300V|ZMYND8_uc002xtc.1_Missense_Mutation_p.A325V|ZMYND8_uc002xtd.1_Missense_Mutation_p.A300V|ZMYND8_uc002xte.1_Missense_Mutation_p.A305V|ZMYND8_uc010zya.1_Missense_Mutation_p.A305V|ZMYND8_uc002xtf.1_Missense_Mutation_p.A325V|ZMYND8_uc002xtg.3_Missense_Mutation_p.A299V|ZMYND8_uc010ghs.2_Missense_Mutation_p.A299V	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	305							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AAAGAATCGGGCATCGACCTG	0.448													A	45910870	G	A	45910870	3	1	4	1	0	0	0	0	1	0	0	0	17708	1203	42	2	2648	2	ZMYND8	20	45910870	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	207972	45910870	17114650	4296	6361											
NCOA3	8202	broad.mit.edu	37	chr20	46264165	46264165	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggcggcatgagtatgtcGccaaaccaaggcttacagat	12	9	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:46264165G>A	uc002xtk.3	+	10	1473	c.1212G>A	c.(1210-1212)tcG>tcA	p.S404S	NCOA3_uc002xtl.3_Silent_p.S404S|NCOA3_uc002xtn.3_Silent_p.S404S|NCOA3_uc010ght.2_Silent_p.S414S|NCOA3_uc002xtm.3_Silent_p.S404S|NCOA3_uc010zyc.2_Silent_p.S199S	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	404					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGAGTATGTCGCCAAACCAAG	0.532													A	46264165	G	A	46264165	2	1	4	1	0	0	0	0	0	0	0	1	10230	1074	38	1		1	NCOA3	20	46264165	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	353295	46264165	16761355	4297	6362											
PREX1	57580	broad.mit.edu	37	chr20	47247280	47247280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatacctggtctatctttaCcgccgtggtgctggcatccg	10	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:47247280C>T	uc002xtw.1	-	35	4602	c.4579G>A	c.(4579-4581)Gta>Ata	p.V1527I	PREX1_uc002xtv.1_Missense_Mutation_p.V824I	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	1527					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCTATCTTTACCGCCGTGGTG	0.627													T	47247280	C	T	47247280	3	4	4	1	0	0	0	0	1	0	0	0	12476	507	18	4	420	4	PREX1	20	47247280	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	983115	47247280	15778240	4298	6363											
PREX1	57580	broad.mit.edu	37	chr20	47364404	47364404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccacgttctgccggatgCgatgcaggaatgcctggagg	16	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:47364404C>T	uc002xtw.1	-	1	256	c.233G>A	c.(232-234)cGc>cAc	p.R78H		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	78	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding	p.R78H(6)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTGCCGGATGCGATGCAGGAA	0.592													T	47364404	C	T	47364404	3	4	4	1	0	0	0	0	1	0	0	0	12476	768	27	1	4902	1	PREX1	20	47364404	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	117124	47364404	15661116	4299	6364											
ARFGEF2	10564	broad.mit.edu	37	chr20	47614883	47614883	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcctgtagttgactttgtCcgctggctgtgtgctgtgtc	14	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:47614883C>T	uc002xtx.4	+	24	3425	c.3273C>T	c.(3271-3273)gtC>gtT	p.V1091V	ARFGEF2_uc010zyf.2_Silent_p.V384V	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1091					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TTGACTTTGTCCGCTGGCTGT	0.507													T	47614883	C	T	47614883	2	4	4	1	0	0	0	0	0	0	0	1	853	842	30	4		4	ARFGEF2	20	47614883	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	250479	47614883	15410637	4300	6365											
ARFGEF2	10564	broad.mit.edu	37	chr20	47639702	47639702	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaggaggatgcagagcAcatggttgccgcccaggtaa	13	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:47639702A>G	uc002xtx.4	+	34	4891	c.4739A>G	c.(4738-4740)cAc>cGc	p.H1580R	ARFGEF2_uc010zyf.2_Missense_Mutation_p.H873R	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1580					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GATGCAGAGCACATGGTTGCC	0.527													G	47639702	A	G	47639702	3	3	4	1	0	0	0	0	1	0	0	0	853	159	6	3	4877	3	ARFGEF2	20	47639702	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	24819	47639702	15385818	4301	6366											
STAU1	6780	broad.mit.edu	37	chr20	47734608	47734608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgatgacttagataaggCatcctgaactcatcctcttt	7	10	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:47734608C>T	uc002xud.3	-	10	1626	c.1215G>A	c.(1213-1215)atG>atA	p.M405I	STAU1_uc002xua.3_Missense_Mutation_p.M324I|STAU1_uc002xub.3_Missense_Mutation_p.M330I|STAU1_uc002xuc.3_Missense_Mutation_p.M324I|STAU1_uc002xue.3_Missense_Mutation_p.M324I|STAU1_uc002xuf.3_Missense_Mutation_p.M330I|STAU1_uc002xug.3_Missense_Mutation_p.M405I	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	405						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TTAGATAAGGCATCCTGAACT	0.498													T	47734608	C	T	47734608	3	4	4	1	0	0	0	0	1	0	0	0	15271	710	25	2	534	2	STAU1	20	47734608	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	94906	47734608	15290912	4302	6367											
ZNFX1	57169	broad.mit.edu	37	chr20	47887009	47887009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaaagacccatagagcaatCgtttggaattctgccagcga	9	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:47887009C>T	uc002xui.3	-	2	1587	c.1340G>A	c.(1339-1341)cGa>cAa	p.R447Q		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	447							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATAGAGCAATCGTTTGGAATT	0.463													T	47887009	C	T	47887009	3	4	4	1	0	0	0	0	1	0	0	0	18202	884	31	1	4464	1	ZNFX1	20	47887009	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	152401	47887009	15138511	4303	6368											
SLC9A8	23315	broad.mit.edu	37	chr20	48503391	48503391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcttcgtgtggctggacGccaagtacctgaaccccttc	12	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:48503391G>A	uc002xuv.1	+	14	1804	c.1594G>A	c.(1594-1596)Gcc>Acc	p.A532T	SLC9A8_uc010zym.1_Missense_Mutation_p.A232T|SLC9A8_uc010gid.3_Missense_Mutation_p.A156T	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 8 (SLC9A8), mRNA.	532						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			GTGGCTGGACGCCAAGTACCT	0.622													A	48503391	G	A	48503391	3	1	4	1	0	0	0	0	1	0	0	0	14720	1087	38	1	1652	1	SLC9A8	20	48503391	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	616382	48503391	14522129	4304	6369											
TMEM189-UBE2V1	387522	broad.mit.edu	37	chr20	48741643	48741643	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatctgcccgaggcttctcGcccgtcaggccctggatgag	12	15	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:48741643G>A	uc002xvg.2	-	5	926	c.765C>T	c.(763-765)ggC>ggT	p.G255G	TMEM189-UBE2V1_uc002xvf.3_Intron|TMEM189-UBE2V1_uc010zyq.1_Non-coding_Transcript|TMEM189-UBE2V1_uc010gif.2_Silent_p.G252G|TMEM189-UBE2V1_uc010zyp.1_Silent_p.G180G	NM_199129	NP_954580	A5PLL7	TM189_HUMAN	Homo sapiens transmembrane protein 189 (TMEM189), transcript variant 1, mRNA.	255						endoplasmic reticulum membrane|integral to membrane		p.G254D(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			GAGGCTTCTCGCCCGTCAGGC	0.572													A	48741643	G	A	48741643	2	1	4	1	0	0	0	0	0	0	0	1	16109	1074	38	1		1	TMEM189-UBE2V1	20	48741643	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	238252	48741643	14283877	4305	6370											
PARD6B	84612	broad.mit.edu	37	chr20	49366779	49366779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccagaggatgaagacagCgaagaagatgacattatcat	12	6	1	6			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:49366779C>T	uc002xvo.3	+	2	1116	c.873C>T	c.(871-873)agC>agT	p.S291S		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.	291					axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						ATGAAGACAGCGAAGAAGATG	0.468													T	49366779	C	T	49366779	2	4	4	1	0	0	0	0	0	0	0	1	11446	767	27	1		1	PARD6B	20	49366779	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	625136	49366779	13658741	4306	6371											
BCAS4	55653	broad.mit.edu	37	chr20	49446904	49446904	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggcatctatgccaaagTggaccggctagaggtacgtc	14	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:49446904T>C	uc002xvq.3	+	2	405	c.341T>C	c.(340-342)gTg>gCg	p.V114A	BCAS4_uc002xvp.1_Missense_Mutation_p.V114A|BCAS4_uc002xvr.3_Missense_Mutation_p.V114A|BCAS4_uc002xvs.3_Missense_Mutation_p.V114A	NM_017843	NP_060313	Q8TDM0	BCAS4_HUMAN	Homo sapiens breast carcinoma amplified sequence 4 (BCAS4), transcript variant 1, mRNA.	114						cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						TATGCCAAAGTGGACCGGCTA	0.502													C	49446904	T	C	49446904	3	2	4	1	0	0	0	0	1	0	0	0	1353	1696	59	3	351	3	BCAS4	20	49446904	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	80125	49446904	13578616	4307	6372											
ATP9A	10079	broad.mit.edu	37	chr20	50305609	50305609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacggcgcctcacctgatgCgaccacagtgccagcccaca	9	17	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:50305609C>T	uc002xwg.1	-	8	793	c.793G>A	c.(793-795)Gca>Aca	p.A265T	ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	265					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCACCTGATGCGACCACAGTG	0.483													T	50305609	C	T	50305609	3	4	4	1	0	0	0	0	1	0	0	0	1198	768	27	1	2430	1	ATP9A	20	50305609	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	858705	50305609	12719911	4308	6373											
SALL4	57167	broad.mit.edu	37	chr20	50407173	50407173	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttaatggatgtgttggttcGgtgaaccccaaggtgtgtct	13	7	1	1	rs74315427		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:50407173G>T	uc002xwh.4	-	1	1950	c.1849C>A	c.(1849-1851)Cga>Aga	p.R617R	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	617					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGTTGGTTCGGTGAACCCCA	0.522													T	50407173	G	T	50407173	2	4	4	1	0	0	0	0	0	0	0	1	13813	1124	39	5		5	SALL4	20	50407173	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	101564	50407173	12618347	4309	6374											
SALL4	57167	broad.mit.edu	37	chr20	50408447	50408447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgctccgctgattcaccGccaccttggtgccccgtagt	10	18	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:50408447G>A	uc002xwh.4	-	1	676	c.575C>T	c.(574-576)gCg>gTg	p.A192V	SALL4_uc010gii.3_Missense_Mutation_p.A192V|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	192					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGATTCACCGCCACCTTGGT	0.612													A	50408447	G	A	50408447	3	1	4	1	0	0	0	0	1	0	0	0	13813	1087	38	1	2598	1	SALL4	20	50408447	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1274	50408447	12617073	4310	6375											
SALL4	57167	broad.mit.edu	37	chr20	50408840	50408840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgaagccgctttactgtgGcttcatcctcactcgccacc	8	16	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:50408840G>A	uc002xwh.4	-	1	283	c.182C>T	c.(181-183)gCc>gTc	p.A61V	SALL4_uc010gii.3_Missense_Mutation_p.A61V|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	61					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTTACTGTGGCTTCATCCTC	0.502													A	50408840	G	A	50408840	3	1	4	1	0	0	0	0	1	0	0	0	13813	1203	42	2	2991	2	SALL4	20	50408840	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	393	50408840	12616680	4311	6376											
ZFP64	55734	broad.mit.edu	37	chr20	50701279	50701279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgacgaaggaggcgccGcaggtctcacagcggaaggc	15	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:50701279G>A	uc002xwk.3	-	8	2104	c.1755C>T	c.(1753-1755)tgC>tgT	p.C585C	ZFP64_uc002xwj.3_Silent_p.C366C	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 4, mRNA.	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGGAGGCGCCGCAGGTCTCAC	0.612													A	50701279	G	A	50701279	2	1	4	1	0	0	0	0	0	0	0	1	17649	1079	38	1		1	ZFP64	20	50701279	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	292439	50701279	12324241	4312	6377											
ZFP64	55734	broad.mit.edu	37	chr20	50781293	50781293	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cataagcagtcttgaattggCaacctaaaaaaaaaaaggaa	7	6	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:50781293C>G	uc002xwl.3	-	3	801	c.452G>C	c.(451-453)tGc>tCc	p.C151S	ZFP64_uc002xwk.3_Missense_Mutation_p.C151S|ZFP64_uc002xwm.3_Missense_Mutation_p.C149S|ZFP64_uc002xwn.3_Missense_Mutation_p.C97S	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C151F(4)|p.C151Y(4)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTTGAATTGGCAACCTAAAAA	0.378													G	50781293	C	G	50781293	3	3	4	1	0	0	0	0	1	0	0	0	17649	710	25	5	2796	5	ZFP64	20	50781293	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	80014	50781293	12244227	4313	6378											
TSHZ2	128553	broad.mit.edu	37	chr20	51873088	51873088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcacagtttgtaacagacGtggatgaagaatagctctgc	10	7	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:51873088G>A	uc002xwo.3	+	1	3978	c.3091G>A	c.(3091-3093)Gtg>Atg	p.V1031M	TSHZ2_uc021wex.1_Missense_Mutation_p.V1028M	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	1031					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGTAACAGACGTGGATGAAGA	0.493													A	51873088	G	A	51873088	3	1	4	1	0	0	0	0	1	0	0	0	16621	1145	40	1	3097	1	TSHZ2	20	51873088	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1091795	51873088	11152432	4314	6379											
ZNF217	7764	broad.mit.edu	37	chr20	52193292	52193292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtatctgcagtcagctgCggtctccgtttgcttctctt	9	13	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:52193292C>T	uc002xwq.4	-	2	2353	c.2011G>A	c.(2011-2013)Gca>Aca	p.A671T	ZNF217_uc010gij.1_Missense_Mutation_p.A663T	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	671					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.A671T(3)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CAGTCAGCTGCGGTCTCCGTT	0.483													T	52193292	C	T	52193292	3	4	4	1	0	0	0	0	1	0	0	0	17769	768	27	1	1143	1	ZNF217	20	52193292	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	320204	52193292	10832228	4315	6380											
ZNF217	7764	broad.mit.edu	37	chr20	52198090	52198090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccattttcatccagaggggCggcgaggtcaggagaacacg	14	10	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:52198090C>T	uc002xwq.4	-	0	1618	c.1276G>A	c.(1276-1278)Gcc>Acc	p.A426T	ZNF217_uc010gij.1_Missense_Mutation_p.A418T	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	426					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TCCAGAGGGGCGGCGAGGTCA	0.637													T	52198090	C	T	52198090	3	4	4	1	0	0	0	0	1	0	0	0	17769	768	27	1	1886	1	ZNF217	20	52198090	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4798	52198090	10827430	4316	6381											
ZNF217	7764	broad.mit.edu	37	chr20	52198529	52198529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctgacaggcttcttcccCgtttcagggtgagattttgg	11	10	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:52198529C>T	uc002xwq.4	-	0	1179	c.837G>A	c.(835-837)acG>acA	p.T279T	ZNF217_uc010gij.1_Silent_p.T271T	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	279					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.T279T(3)|p.T279M(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GCTTCTTCCCCGTTTCAGGGT	0.547													T	52198529	C	T	52198529	2	4	4	1	0	0	0	0	0	0	0	1	17769	639	23	1		1	ZNF217	20	52198529	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	439	52198529	10826991	4317	6382											
DOK5	55816	broad.mit.edu	37	chr20	53171481	53171481	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccttccagatttatcagCgatgctggttagtattcaag	8	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:53171481C>T	uc002xwy.3	+	1	296	c.76C>T	c.(76-78)Cga>Tga	p.R26*		NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Homo sapiens docking protein 5 (DOK5), mRNA.	26	PH.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GATTTATCAGCGATGCTGGTT	0.373													T	53171481	C	T	53171481	4	4	4	1	0	0	0	0	0	1	0	0	4700	760	27	1	82	1	DOK5	20	53171481	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	972952	53171481	9854039	4318	6383											
AURKA	6790	broad.mit.edu	37	chr20	54959346	54959346	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttttgattcttcatttttCtgttttgatgccagttcctc	5	8	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:54959346C>T	uc002xxe.1	-	4	611	c.354G>A	c.(352-354)caG>caA	p.Q118Q	AURKA_uc002xxf.1_Silent_p.Q118Q|AURKA_uc002xxg.1_Silent_p.Q118Q|AURKA_uc002xxh.1_Silent_p.Q118Q|AURKA_uc002xxi.1_Silent_p.Q118Q|AURKA_uc002xxj.1_Silent_p.Q118Q|AURKA_uc010zzd.1_Non-coding_Transcript|AURKA_uc002xxd.1_Silent_p.Q118Q	NM_198434	NP_940839	O14965	AURKA_HUMAN	Homo sapiens aurora kinase A (AURKA), transcript variant 3, mRNA.	118					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			CTTCATTTTTCTGTTTTGATG	0.299													T	54959346	C	T	54959346	2	4	4	1	0	0	0	0	0	0	0	1	1221	912	32	4		4	AURKA	20	54959346	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1787865	54959346	8066174	4319	6384											
BMP7	655	broad.mit.edu	37	chr20	55777649	55777649	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctccgaggcccagagggtAcggctgtcgagcaggaagag	16	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:55777649A>G	uc010gip.1	-	2	1171	c.642T>C	c.(640-642)cgT>cgC	p.R214R	BMP7_uc002xyc.3_Silent_p.R214R	NM_001719	NP_001710	P18075	BMP7_HUMAN	Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA.	214					BMP signaling pathway|SMAD protein signal transduction|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of MAP kinase activity|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of glomerular mesangial cell proliferation|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CCCAGAGGGTACGGCTGTCGA	0.622													G	55777649	A	G	55777649	2	3	4	1	0	0	0	0	0	0	0	1	1465	378	14	3		3	BMP7	20	55777649	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	818303	55777649	7247871	4320	6385											
PCK1	5105	broad.mit.edu	37	chr20	56138777	56138777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctggatgaagtttgacGcacaaggtgactcttttaga	11	7	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:56138777G>A	uc002xyn.4	+	5	1118	c.955G>A	c.(955-957)Gca>Aca	p.A319T	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	319					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.D318D(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GAAGTTTGACGCACAAGGTGA	0.542													A	56138777	G	A	56138777	3	1	4	1	0	0	0	0	1	0	0	0	11581	1087	38	1	973	1	PCK1	20	56138777	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	361128	56138777	6886743	4321	6386											
NPEPL1	79716	broad.mit.edu	37	chr20	57276144	57276144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccacaccccagatggagCcacgcagaccatcgcctggg	11	17	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:57276144C>T	uc010zzs.1	+	5	847	c.752C>T	c.(751-753)gCc>gTc	p.A251V	NPEPL1_uc010zzr.2_Missense_Mutation_p.A203V|NPEPL1_uc010gjo.2_Missense_Mutation_p.A223V|NPEPL1_uc002xzp.3_Missense_Mutation_p.A139V	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	Homo sapiens aminopeptidase-like 1 (NPEPL1), transcript variant 1, mRNA.	251					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CCAGATGGAGCCACGCAGACC	0.627													T	57276144	C	T	57276144	3	4	4	1	0	0	0	0	1	0	0	0	10574	739	26	2	620	2	NPEPL1	20	57276144	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1137367	57276144	5749376	4322	6387											
GNAS	2778	broad.mit.edu	37	chr20	57415849	57415849	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcccacccgccgtgacgcgTccccggagtccccttccaaa	9	20	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:57415849T>A	uc021wfl.1	+	0	1055	c.688T>A	c.(688-690)Tcc>Acc	p.S230T	GNAS-AS1_uc002xzs.2_Intron|GNAS_uc002xzt.3_5'UTR|GNAS_uc021wfm.1_Missense_Mutation_p.S230T|GNAS_uc010gjq.3_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 4, mRNA.	325				E -> Q (in Ref. 9; AAA52583).	G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGTGACGCGTCCCCGGAGTC	0.592			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			A	57415849	T	A	57415849	3	1	4	1	0	0	0	0	1	0	0	0	6510	1667	58	5	690	5	GNAS	20	57415849	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	139705	57415849	5609671	4323	6388											
GNAS	2778	broad.mit.edu	37	chr20	57485765	57485765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactgccagtggagatgggCgtcactactgctaccctcat	11	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:57485765C>T	uc002xzw.3	+	12	3280	c.2995C>T	c.(2995-2997)Cgt>Tgt	p.R999C	GNAS_uc021wfl.1_3'UTR|GNAS_uc002xzt.3_Missense_Mutation_p.R324C|GNAS_uc010gjq.3_Missense_Mutation_p.R297C|GNAS_uc002xzx.3_Missense_Mutation_p.R297C|GNAS_uc021wfn.1_Missense_Mutation_p.R356C|GNAS_uc021wfo.1_Missense_Mutation_p.R357C|GNAS_uc002yaa.3_Missense_Mutation_p.R341C|GNAS_uc021wfp.1_Missense_Mutation_p.R342C|GNAS_uc002yad.3_Missense_Mutation_p.R247C|GNAS_uc002yae.3_Missense_Mutation_p.R281C	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	356					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGGAGATGGGCGTCACTACTG	0.577			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			T	57485765	C	T	57485765	3	4	4	1	0	0	0	0	1	0	0	0	6510	768	27	1	3933	1	GNAS	20	57485765	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	69916	57485765	5539755	4324	6389											
TH1L	51497	broad.mit.edu	37	chr20	57568154	57568154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatacccctgtccacctggCgttgctggatgaggtaagag	12	12	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:57568154C>T	uc002yag.3	+	10	1385	c.1358C>T	c.(1357-1359)gCg>gTg	p.A453V	TH1L_uc002yaf.1_Non-coding_Transcript	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	Homo sapiens TH1-like (Drosophila) (TH1L), transcript variant 1, mRNA.	453					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23	all_lung(29;0.00711)		Colorectal(105;0.109)			GTCCACCTGGCGTTGCTGGAT	0.502													T	57568154	C	T	57568154	3	4	4	1	0	0	0	0	1	0	0	0	15836	768	27	1	1400	1	TH1L	20	57568154	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	82389	57568154	5457366	4325	6390											
TUBB1	81027	broad.mit.edu	37	chr20	57599575	57599575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgggggctgagcatggccGccaccttcattggcaacaac	12	15	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:57599575G>A	uc002yak.3	+	3	1362	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA.	365					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GAGCATGGCCGCCACCTTCAT	0.542													A	57599575	G	A	57599575	3	1	4	1	0	0	0	0	1	0	0	0	16750	1087	38	1	1107	1	TUBB1	20	57599575	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	31421	57599575	5425945	4326	6391											
ZNF831	128611	broad.mit.edu	37	chr20	57768478	57768478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggagacctgcctgtggGcccagactgtcctgagatgg	14	11	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:57768478G>A	uc002yan.3	+	0	2404	c.2404G>A	c.(2404-2406)Gcc>Acc	p.A802T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	802						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTGCCTGTGGGCCCAGACTGT	0.627													A	57768478	G	A	57768478	3	1	4	1	0	0	0	0	1	0	0	0	18182	1203	42	2	2406	2	ZNF831	20	57768478	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	168903	57768478	5257042	4327	6392											
PHACTR3	116154	broad.mit.edu	37	chr20	58349436	58349436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggagaacaagcgaactgcCgctaaggaatctgaggagaa	13	7	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:58349436C>T	uc002yau.3	+	6	1532	c.1065C>T	c.(1063-1065)gcC>gcT	p.A355A	PHACTR3_uc002yat.3_Silent_p.A352A|PHACTR3_uc010zzw.2_Silent_p.A314A|PHACTR3_uc002yav.3_Silent_p.A314A|PHACTR3_uc002yaw.3_Silent_p.A314A|PHACTR3_uc002yax.3_Silent_p.A244A	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	355						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AGCGAACTGCCGCTAAGGAAT	0.542													T	58349436	C	T	58349436	2	4	4	1	0	0	0	0	0	0	0	1	11811	639	23	1		1	PHACTR3	20	58349436	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	580958	58349436	4676084	4328	6393											
SYCP2	10388	broad.mit.edu	37	chr20	58467173	58467173	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagtattcacatcttttgAcaatatgtatttcttcctat	4	8	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:58467173A>G	uc002yaz.3	-	22	2375	c.2236T>C	c.(2236-2238)Tca>Cca	p.S746P		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	746					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ACATCTTTTGACAATATGTAT	0.343													G	58467173	A	G	58467173	3	3	4	1	0	0	0	0	1	0	0	0	15429	275	10	3	2444	3	SYCP2	20	58467173	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	117737	58467173	4558347	4329	6394											
CDH26	60437	broad.mit.edu	37	chr20	58562546	58562546	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggccgagccagccagggCgtgttgcgtctcctggttca	15	12	2	0	rs146755298		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:58562546C>T	uc002ybe.3	+	7	1187	c.876C>T	c.(874-876)ggC>ggT	p.G292G	CDH26_uc002ybf.1_5'Flank|CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	292	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CCAGCCAGGGCGTGTTGCGTC	0.433													T	58562546	C	T	58562546	2	4	4	1	0	0	0	0	0	0	0	1	3110	755	27	1		1	CDH26	20	58562546	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	95373	58562546	4462974	4330	6395											
CDH26	60437	broad.mit.edu	37	chr20	58564055	58564055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaggaaagcttcagccgCcaaggaaggcagcagccagc	14	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:58564055C>T	uc002ybe.3	+	8	1431	c.1120C>T	c.(1120-1122)Cca>Tca	p.P374S	CDH26_uc002ybf.1_5'UTR|CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	374	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P373P(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GCTTCAGCCGCCAAGGAAGGC	0.557													T	58564055	C	T	58564055	3	4	4	1	0	0	0	0	1	0	0	0	3110	739	26	2	1154	2	CDH26	20	58564055	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1509	58564055	4461465	4331	6396											
CDH4	1002	broad.mit.edu	37	chr20	60504690	60504690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actatgcccaactcagcttgCgcatcctgtacctggaggcc	9	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:60504690C>T	uc002ybn.2	+	12	2117	c.2029C>T	c.(2029-2031)Cgc>Tgc	p.R677C	CDH4_uc002ybr.2_Missense_Mutation_p.R640C|CDH4_uc002ybp.2_Missense_Mutation_p.R603C	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	677	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding	p.R677H(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACTCAGCTTGCGCATCCTGTA	0.532													T	60504690	C	T	60504690	3	4	4	1	0	0	0	0	1	0	0	0	3112	768	27	1	2079	1	CDH4	20	60504690	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1940635	60504690	2520830	4332	6397											
LSM14B	149986	broad.mit.edu	37	chr20	60699742	60699742	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagaggagatttatgagtAcatcattttccgaggaagtg	12	5	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:60699742A>G	uc010gjy.1	+	1	403	c.197A>G	c.(196-198)tAc>tGc	p.Y66C	LSM14B_uc002ybt.2_Missense_Mutation_p.Y66C|LSM14B_uc010gjx.1_Missense_Mutation_p.Y66C|LSM14B_uc010gjz.1_5'UTR|LSM14B_uc010zzz.1_5'UTR	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	Homo sapiens LSM14B, SCD6 homolog B (S. cerevisiae) (LSM14B), mRNA.	66				Y -> N (in Ref. 4; BX354437).	multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			ATTTATGAGTACATCATTTTC	0.502													G	60699742	A	G	60699742	3	3	4	1	0	0	0	0	1	0	0	0	9055	391	14	3	203	3	LSM14B	20	60699742	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	195052	60699742	2325778	4333	6398											
LSM14B	149986	broad.mit.edu	37	chr20	60704997	60704997	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcccagccgagcagcaAgacggccagcggtacttgaa	13	13	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:60704997A>G	uc010gjy.1	+	3	790	c.584A>G	c.(583-585)aAg>aGg	p.K195R	LSM14B_uc010gjx.1_Missense_Mutation_p.K221R|LSM14B_uc010gjz.1_Missense_Mutation_p.K151R|LSM14B_uc010zzz.1_Missense_Mutation_p.K115R	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	Homo sapiens LSM14B, SCD6 homolog B (S. cerevisiae) (LSM14B), mRNA.	195					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CCGAGCAGCAAGACGGCCAGC	0.478													G	60704997	A	G	60704997	3	3	4	1	0	0	0	0	1	0	0	0	9055	72	3	3	598	3	LSM14B	20	60704997	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	5255	60704997	2320523	4334	6399											
PSMA7	5688	broad.mit.edu	37	chr20	60714232	60714232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagatgccaaacggcctgcGcccattgctctgcgtataac	10	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:60714232G>A	uc002ybx.1	-	3	485	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C		NM_002792	NP_002783	O14818	PSA7_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 7 (PSMA7), mRNA.	124					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			AACGGCCTGCGCCCATTGCTC	0.502													A	60714232	G	A	60714232	3	1	4	1	0	0	0	0	1	0	0	0	12672	1087	38	1	392	1	PSMA7	20	60714232	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	9235	60714232	2311288	4335	6400											
OSBPL2	9885	broad.mit.edu	37	chr20	60854258	60854258	+	Frame_Shift_Del	DEL	C	C	-													tcggaacaggtcagtcaccaCccccccatcagtgcgttcca							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:60854257_60854257AC>A	uc002yck.1	+	6	738	c.536_536AC>A	c.(535-537)cacfs	p.H179fs	OSBPL2_uc002ycl.1_Frame_Shift_Del_p.H167fs|OSBPL2_uc011aah.1_Frame_Shift_Del_p.H87fs|OSBPL2_uc002ycm.1_5'UTR	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA.	179					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTCAGTCACCACCCCCCCATC	0.463													-	60854258	C	-	60854258	7	5	4	1	0	1	0	1	0	0	0	0	11278	506	18	0	559	0	OSBPL2	20	60854258	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	140026	60854258	2171262	4336	6401											
CABLES2	81928	broad.mit.edu	37	chr20	60966415	60966415	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttgctgagcttgccctGcaggaccagcttctcaaagt	10	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:60966415G>A	uc002ycv.2	-	8	1193	c.1186C>T	c.(1186-1188)Cag>Tag	p.Q396*		NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	Homo sapiens Cdk5 and Abl enzyme substrate 2 (CABLES2), mRNA.	396					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGCTTGCCCTGCAGGACCAGC	0.632													A	60966415	G	A	60966415	4	1	4	1	0	0	0	0	0	1	0	0	2530	1328	46	2	258	2	CABLES2	20	60966415	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	112157	60966415	2059105	4337	6402											
SLCO4A1	28231	broad.mit.edu	37	chr20	61297900	61297900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccccagtgtgcccatggCgggcgtcacagccagctacg	13	16	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:61297900C>T	uc002ydb.1	+	6	1650	c.1445C>T	c.(1444-1446)gCg>gTg	p.A482V	LOC100127888_uc002ydd.3_Non-coding_Transcript|SLCO4A1_uc002yde.1_5'Flank	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	482					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	p.A482V(2)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			GTGCCCATGGCGGGCGTCACA	0.677													T	61297900	C	T	61297900	3	4	4	1	0	0	0	0	1	0	0	0	14729	768	27	1	1467	1	SLCO4A1	20	61297900	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	331485	61297900	1727620	4338	6403											
SLC17A9	63910	broad.mit.edu	37	chr20	61593988	61593988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgcaggacgctgctgacCggggcggtgggctccctgct	16	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:61593988C>T	uc002yea.4	+	4	694	c.510C>T	c.(508-510)acC>acT	p.T170T	SLC17A9_uc002ydz.4_Silent_p.T164T|SLC17A9_uc011aap.1_Silent_p.T190T	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	170					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CGCTGCTGACCGGGGCGGTGG	0.652													T	61593988	C	T	61593988	2	4	4	1	0	0	0	0	0	0	0	1	14424	639	23	1		1	SLC17A9	20	61593988	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	296088	61593988	1431532	4339	6404											
YTHDF1	54915	broad.mit.edu	37	chr20	61833667	61833667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacctcctcctcctcctggCgcttctcgtagtgagcaaag	8	17	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:61833667C>T	uc002yeh.3	-	3	1919	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	YTHDF1_uc011aaq.2_Missense_Mutation_p.R492H	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	542										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CTCCTCCTGGCGCTTCTCGTA	0.552													T	61833667	C	T	61833667	3	4	4	1	0	0	0	0	1	0	0	0	17495	768	27	1	62	1	YTHDF1	20	61833667	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	239679	61833667	1191853	4340	6405											
CHRNA4	1137	broad.mit.edu	37	chr20	61981756	61981756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgggcatggtgtgcgtgCgtggcgagcggtggtgcacg	22	7	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:61981756C>T	uc002yes.2	-	4	1185	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	CHRNA4_uc002yet.1_Missense_Mutation_p.R160H|CHRNA4_uc010gke.1_Missense_Mutation_p.R265H|CHRNA4_uc002yev.1_Missense_Mutation_p.R160H|CHRNA4_uc010gkf.1_Missense_Mutation_p.R160H	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	336					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.R336H(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GGTGTGCGTGCGTGGCGAGCG	0.612													T	61981756	C	T	61981756	3	4	4	1	0	0	0	0	1	0	0	0	3385	768	27	1	884	1	CHRNA4	20	61981756	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	148089	61981756	1043764	4341	6406											
PTK6	5753	broad.mit.edu	37	chr20	62162144	62162144	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccaactttgcagagggtGttttccccgacgaggatgtt	11	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62162144G>A	uc002yfg.3	-	5	1009	c.969C>T	c.(967-969)aaC>aaT	p.N323N	PTK6_uc011aay.2_Silent_p.N222N|PTK6_uc011aaz.1_Silent_p.N85N	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA.	323	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			TGCAGAGGGTGTTTTCCCCGA	0.637													A	62162144	G	A	62162144	2	1	4	1	0	0	0	0	0	0	0	1	12764	1368	48	4		4	PTK6	20	62162144	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	180388	62162144	863376	4342	6407											
SRMS	6725	broad.mit.edu	37	chr20	62174716	62174716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggatcagcttccagttgGccttgtagtaggtgagcagc	13	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62174716G>A	uc002yfi.1	-	2	637	c.596C>T	c.(595-597)gCc>gTc	p.A199V		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	199	SH2.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CTTCCAGTTGGCCTTGTAGTA	0.652													A	62174716	G	A	62174716	3	1	4	1	0	0	0	0	1	0	0	0	15151	1203	42	2	894	2	SRMS	20	62174716	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	12572	62174716	850804	4343	6408											
PRIC285	85441	broad.mit.edu	37	chr20	62198324	62198324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccagattcagccaggacGccatggacatgtcccggtct	11	14	2	1	rs79249043	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62198324G>A	uc002yfm.2	-	6	3279	c.2387C>T	c.(2386-2388)gCg>gTg	p.A796V	PRIC285_uc002yfl.1_Missense_Mutation_p.A227V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	796					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CAGCCAGGACGCCATGGACAT	0.677													A	62198324	G	A	62198324	3	1	4	1	0	0	0	0	1	0	0	0	12485	1087	38	1	5618	1	PRIC285	20	62198324	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	23608	62198324	827196	4344	6409											
RTEL1	51750	broad.mit.edu	37	chr20	62319289	62319289	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccctctggccacgctcaGccctttcccagtctgcctgg	9	19	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62319289G>A	uc021wge.1	+	17	1652	c.1482_splice	c.e17-1	p.I494_splice	RTEL1_uc011abc.2_Splice_Site|RTEL1_uc002yfu.2_Splice_Site_p.I494_splice|RTEL1_uc011abd.2_Splice_Site_p.I518_splice|RTEL1_uc002yfw.3_Splice_Site|RTEL1_uc011abe.1_Splice_Site_p.I271_splice|RTEL1_uc002yfx.1_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	494					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GCCACGCTCAGCCCTTTCCCA	0.662													A	62319289	G	A	62319289	5	1	4	1	0	0	0	0	0	0	1	0	13720	985	34	2	1547	2	RTEL1	20	62319289	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	120965	62319289	706231	4345	6410											
ZGPAT	84619	broad.mit.edu	37	chr20	62366007	62366007	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcttgcagtggtggggtcGgacgccgtggactctgcaca	15	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62366007G>A	uc002ygk.3	+	4	1071	c.882G>A	c.(880-882)tcG>tcA	p.S294S	ZGPAT_uc002ygi.2_Intron|ZGPAT_uc010gkk.2_Intron|ZGPAT_uc010gkl.2_Intron|ZGPAT_uc002ygm.3_Intron|ZGPAT_uc002ygj.2_Intron|ZGPAT_uc002ygn.4_Intron|ZGPAT_uc011abi.2_5'Flank|ZGPAT_uc002ygp.4_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.	294					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					TGGTGGGGTCGGACGCCGTGG	0.617													A	62366007	G	A	62366007	2	1	4	1	0	0	0	0	0	0	0	1	17671	1103	39	1		1	ZGPAT	20	62366007	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	46718	62366007	659513	4346	6411											
DNAJC5	80331	broad.mit.edu	37	chr20	62560765	62560765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacgccatcctcacggacGccacaaaaaggaacatctac	7	16	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62560765G>A	uc002yhf.3	+	2	441	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	DNAJC5_uc002yhh.3_Non-coding_Transcript	NM_025219	NP_079495	Q9H3Z4	DNJC5_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 (DNAJC5), mRNA.	70	J.				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCTCACGGACGCCACAAAAAG	0.557													A	62560765	G	A	62560765	3	1	4	1	0	0	0	0	1	0	0	0	4650	1087	38	1	214	1	DNAJC5	20	62560765	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	194758	62560765	464755	4347	6412											
DNAJC5	80331	broad.mit.edu	37	chr20	62560817	62560817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctgggtctctacgtggCcgagcagtttggggaagaga	16	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62560817C>T	uc002yhf.3	+	2	493	c.260C>T	c.(259-261)gCc>gTc	p.A87V	DNAJC5_uc002yhh.3_Non-coding_Transcript	NM_025219	NP_079495	Q9H3Z4	DNJC5_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 (DNAJC5), mRNA.	87					neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CTCTACGTGGCCGAGCAGTTT	0.597													T	62560817	C	T	62560817	3	4	4	1	0	0	0	0	1	0	0	0	4650	739	26	2	266	2	DNAJC5	20	62560817	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	52	62560817	464703	4348	6413											
PRPF6	24148	broad.mit.edu	37	chr20	62657327	62657327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagatctggctggcagcCgtgaagctggagtccgagaa	17	8	1	3	rs151332876	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62657327C>T	uc002yho.3	+	14	2112	c.1944C>T	c.(1942-1944)gcC>gcT	p.A648A	PRPF6_uc002yhp.3_Intron	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	648					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GGCTGGCAGCCGTGAAGCTGG	0.647													T	62657327	C	T	62657327	2	4	4	1	0	0	0	0	0	0	0	1	12574	639	23	1		1	PRPF6	20	62657327	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	96510	62657327	368193	4349	6414											
SOX18	54345	broad.mit.edu	37	chr20	62680254	62680254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaagtgctgcacgcgcagCcgttcggcttcctccacgaa	11	16	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62680254C>T	uc002yhs.3	-	1	530	c.420G>A	c.(418-420)cgG>cgA	p.R140R		NM_018419	NP_060889	P35713	SOX18_HUMAN	Homo sapiens SRY (sex determining region Y)-box 18 (SOX18), mRNA.	140					angiogenesis|blood vessel endothelial cell migration|endocardial cell differentiation|endocardium formation|establishment of endothelial barrier|heart looping|lymphangiogenesis|lymphatic endothelial cell differentiation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|positive regulation of transcription from RNA polymerase II promoter|vasculogenesis	nucleus	transcription regulatory region DNA binding			lung(3)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GCACGCGCAGCCGTTCGGCTT	0.716													T	62680254	C	T	62680254	2	4	4	1	0	0	0	0	0	0	0	1	14948	726	26	2		2	SOX18	20	62680254	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	22927	62680254	345266	4350	6415											
TCEA2	6919	broad.mit.edu	37	chr20	62703233	62703233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttcacaggtgcagacccGcagctctgatgagcccatga	11	13	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62703233G>A	uc021wgq.1	+	8	1486	c.830G>A	c.(829-831)cGc>cAc	p.R277H	TCEA2_uc021wgp.1_Missense_Mutation_p.R250H	NM_003195	NP_942016	Q15560	TCEA2_HUMAN	Homo sapiens transcription elongation factor A (SII), 2 (TCEA2), transcript variant 1, mRNA.	277					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GTGCAGACCCGCAGCTCTGAT	0.632													A	62703233	G	A	62703233	3	1	4	1	0	0	0	0	1	0	0	0	15665	1087	38	1	864	1	TCEA2	20	62703233	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	22979	62703233	322287	4351	6416											
OPRL1	4987	broad.mit.edu	37	chr20	62729746	62729746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcatctctgtctgctacaGcctcatgatccggcggctcc	9	16	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62729746G>A	uc002yic.3	+	4	1126	c.707G>A	c.(706-708)aGc>aAc	p.S236N	OPRL1_uc002yid.3_Missense_Mutation_p.S236N|OPRL1_uc021wgs.1_Missense_Mutation_p.S236N|OPRL1_uc002yif.4_Missense_Mutation_p.S231N	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	236					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	X-opioid receptor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GTCTGCTACAGCCTCATGATC	0.622													A	62729746	G	A	62729746	3	1	4	1	0	0	0	0	1	0	0	0	10886	971	34	2	717	2	OPRL1	20	62729746	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	26513	62729746	295774	4352	6417											
MYT1	4661	broad.mit.edu	37	chr20	62839458	62839458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaagaggaagaggaGgaggaggaggcagctcctga	20	4	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62839458G>A	uc002yii.3	+	6	1273	c.909G>A	c.(907-909)gaG>gaA	p.E303E	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	303	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E302E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaagaggaggaggaggagg	0.577													A	62839458	G	A	62839458	2	1	4	1	0	0	0	0	0	0	0	1	10106	991	35	4		4	MYT1	20	62839458	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	109712	62839458	186062	4353	6418											
MYT1	4661	broad.mit.edu	37	chr20	62850293	62850293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcgcaggacgccgaggctGcacacatggctgccactgcc	12	16	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62850293G>A	uc002yii.3	+	11	2240	c.1876G>A	c.(1876-1878)Gca>Aca	p.A626T	MYT1_uc002yih.3_Missense_Mutation_p.A328T|MYT1_uc002yij.3_Missense_Mutation_p.A285T	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	626					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGCCGAGGCTGCACACATGGC	0.602													A	62850293	G	A	62850293	3	1	4	1	0	0	0	0	1	0	0	0	10106	1319	46	2	1914	2	MYT1	20	62850293	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	10835	62850293	175227	4354	6419											
TPTE	7179	broad.mit.edu	37	chr21	10934961	10934961	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagattgtagactcgatagtGgtttcggtgtttcttatcta	10	5	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:10934961G>T	uc002yip.1	-	14	1200	c.832C>A	c.(832-834)Cac>Aac	p.H278N	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.H260N|TPTE_uc002yir.1_Missense_Mutation_p.H240N|TPTE_uc010gkv.1_Missense_Mutation_p.H140N	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	278	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTCGATAGTGGTTTCGGTGT	0.348													T	10934961	G	T	10934961	3	4	4	1	0	0	0	0	1	0	0	0	16427	1348	47	5	863	5	TPTE	21	10934961	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08		10934961	37194934	4355	6420											
POTED	317754	broad.mit.edu	37	chr21	14982927	14982927	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggagactacgaccacagCgccttcatggagccgaggta	14	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:14982927C>T	uc002yjb.1	+	0	430	c.378C>T	c.(376-378)agC>agT	p.S126S		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	126						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						ACGACCACAGCGCCTTCATGG	0.597													T	14982927	C	T	14982927	2	4	4	1	0	0	0	0	0	0	0	1	12263	767	27	1		1	POTED	21	14982927	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4047966	14982927	33146968	4356	6421											
LIPI	149998	broad.mit.edu	37	chr21	15561632	15561632	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggctcagcacagtttaggTtgttccttgtatacatcatc	9	9	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:15561632T>C	uc002yjm.3	-	1	228	c.218A>G	c.(217-219)aAc>aGc	p.N73S	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.N52S|LIPI_uc021whh.1_Missense_Mutation_p.N52S|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Missense_Mutation_p.N52S|LIPI_uc021whe.1_Missense_Mutation_p.N52S|LIPI_uc021whf.1_Missense_Mutation_p.N52S	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	52					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ACAGTTTAGGTTGTTCCTTGT	0.368													C	15561632	T	C	15561632	3	2	4	1	0	0	0	0	1	0	0	0	8825	1725	60	3	1263	3	LIPI	21	15561632	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	578705	15561632	32568263	4357	6422											
TMPRSS15	5651	broad.mit.edu	37	chr21	19713822	19713822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaggctaatgtcatccaacGcaatatcactcaggatcttg	7	10	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:19713822G>A	uc002ykw.3	-	12	1503	c.1472C>T	c.(1471-1473)gCg>gTg	p.A491V		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	491	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.A491V(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GTCATCCAACGCAATATCACT	0.388													A	19713822	G	A	19713822	3	1	4	1	0	0	0	0	1	0	0	0	16243	1087	38	1	1639	1	TMPRSS15	21	19713822	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	4152190	19713822	28416073	4358	6423											
ADAMTS5	11096	broad.mit.edu	37	chr21	28296541	28296541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgtgacccactgcggctgcGaagtgtgtgatcccacttta	11	13	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:28296541G>A	uc002ymg.3	-	7	3353	c.2624C>T	c.(2623-2625)tCg>tTg	p.S875L		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	875	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.S875L(4)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CTGCGGCTGCGAAGTGTGTGA	0.527													A	28296541	G	A	28296541	3	1	4	1	0	0	0	0	1	0	0	0	269	1059	37	1	172	1	ADAMTS5	21	28296541	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	8582719	28296541	19833354	4359	6424											
C21orf7	56911	broad.mit.edu	37	chr21	30532270	30532270	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttgtgaagcccctgccGccttgtcatgactccgagga	11	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:30532270G>A	uc002ynf.3	+	7	718	c.441G>A	c.(439-441)ccG>ccA	p.P147P	C21orf7_uc011acr.2_Non-coding_Transcript|C21orf7_uc002ynd.3_Non-coding_Transcript|C21orf7_uc010gln.3_Non-coding_Transcript|C21orf7_uc002yne.3_Silent_p.P147P|C21orf7_uc010glo.3_5'UTR|C21orf7_uc002yng.3_Silent_p.P47P|C21orf7_uc010glp.3_Non-coding_Transcript	NM_020152	NP_064537	P57077	TAK1L_HUMAN	Homo sapiens chromosome 21 open reading frame 7 (C21orf7), mRNA.	147						cytosol|nucleus	protein binding			ovary(2)|prostate(1)	3				Colorectal(56;0.248)		AGCCCCTGCCGCCTTGTCATG	0.433													A	30532270	G	A	30532270	2	1	4	1	0	0	0	0	0	0	0	1	2132	1074	38	1		1	C21orf7	21	30532270	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2235729	30532270	17597625	4360	6425											
KRTAP24-1	643803	broad.mit.edu	37	chr21	31654991	31654991	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacagaggagtttgacgggTcacaaccagtggtactgcag	14	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:31654991T>C	uc002ynv.3	-	0	286	c.260A>G	c.(259-261)gAc>gGc	p.D87G		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.	87						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GTTTGACGGGTCACAACCAGT	0.562													C	31654991	T	C	31654991	3	2	4	1	0	0	0	0	1	0	0	0	8542	1667	58	3	508	3	KRTAP24-1	21	31654991	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1122721	31654991	16474904	4361	6426											
KRTAP13-1	140258	broad.mit.edu	37	chr21	31768922	31768922	+	Nonstop_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggatcaggcttctactattGatcatcttgttaaattgctg	8	7	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:31768922G>T	uc002yoa.3	+	0	531	c.518G>T	c.(517-519)tGa>tTa	p.*173L		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	Homo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA.	0						intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCTACTATTGATCATCTTGT	0.433													T	31768922	G	T	31768922	4	4	4	1	0	0	0	0	0	0	0	0	8522	1285	45	5	520	5	KRTAP13-1	21	31768922	Nonstop_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	113931	31768922	16360973	4362	6427											
TIAM1	7074	broad.mit.edu	37	chr21	32526578	32526578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacataccttcacgtaggtgCgctccgtctccaggagctcg	10	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:32526578C>T	uc002yow.1	-	17	3630	c.3158G>A	c.(3157-3159)cGc>cAc	p.R1053H	TIAM1_uc011adk.1_Missense_Mutation_p.R1053H|TIAM1_uc011adl.1_Missense_Mutation_p.R993H	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1053	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity	p.R1053H(3)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CACGTAGGTGCGCTCCGTCTC	0.547													T	32526578	C	T	32526578	3	4	4	1	0	0	0	0	1	0	0	0	15887	768	27	1	1665	1	TIAM1	21	32526578	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	757656	32526578	15603317	4363	6428											
IFNAR2	3455	broad.mit.edu	37	chr21	34640721	34640721	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggaatggtaccacctccCgaaaatgtcagaatgaattc	9	9	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:34640721C>T	uc002yrl.1	+	0	489	c.78C>T	c.(76-78)ccC>ccT	p.P26P	IFNAR2_uc002yri.1_Intron|IFNAR2_uc002yrh.1_Silent_p.P94P|LOC100288432_uc002yrj.2_5'Flank|IFNAR2_uc002yrk.1_Silent_p.P24P	NM_000628	NP_000619	P48551	INAR2_HUMAN	Homo sapiens interleukin 10 receptor, beta (IL10RB), mRNA.	0					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TACCACCTCCCGAAAATGTCA	0.403													T	34640721	C	T	34640721	2	4	4	1	0	0	0	0	0	0	0	1	7545	639	23	1		1	IFNAR2	21	34640721	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2114143	34640721	13489174	4364	6429											
TTC3	7267	broad.mit.edu	37	chr21	38510956	38510956	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attgaacctggccatgattaActatgttttggtcgtctatg	9	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:38510956A>T	uc002yvz.3	+	18	1706	c.1601A>T	c.(1600-1602)aAc>aTc	p.N534I	TTC3_uc011aee.1_Missense_Mutation_p.N224I|TTC3_uc002ywa.3_Missense_Mutation_p.N534I|TTC3_uc002ywb.3_Missense_Mutation_p.N534I|TTC3_uc010gnf.3_Missense_Mutation_p.N299I|TTC3_uc002ywc.3_Missense_Mutation_p.N224I|TTC3_uc011aed.1_Missense_Mutation_p.N224I|TTC3_uc010gne.1_Missense_Mutation_p.N534I	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	534					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GCCATGATTAACTATGTTTTG	0.353													T	38510956	A	T	38510956	3	4	4	1	0	0	0	0	1	0	0	0	16694	43	2	5	1671	5	TTC3	21	38510956	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	3870235	38510956	9618939	4365	6430											
TTC3	7267	broad.mit.edu	37	chr21	38572580	38572580	+	Frame_Shift_Del	DEL	A	A	-													tgccacgaggtgttcaaatcAaaaaacgtgcgtgtgctcaa					rs58274795	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:38572579_38572579CA>C	uc002yvz.3	+	44	6002	c.5897_5897CA>C	c.(5896-5898)tcafs	p.S1966fs	TTC3_uc002ywa.3_Frame_Shift_Del_p.S1966fs|TTC3_uc002ywb.3_Frame_Shift_Del_p.S1966fs|TTC3_uc010gnf.3_Frame_Shift_Del_p.S1731fs|TTC3_uc002ywc.3_Frame_Shift_Del_p.S1656fs	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1966					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GTGTTCAAATCAAAAAACGTG	0.413													-	38572580	A	-	38572580	7	5	4	1	0	1	0	1	0	0	0	0	16694	117	5	0	6072	0	TTC3	21	38572580	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	61624	38572580	9557315	4366	6431											
DYRK1A	1859	broad.mit.edu	37	chr21	38884778	38884778	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgaggcaaggggctgatagaGaagagtcccccatgacagga	15	8	0	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:38884778G>T	uc002ywk.3	+	10	2312	c.2236G>T	c.(2236-2238)Gaa>Taa	p.E746*	DYRK1A_uc002ywi.3_3'UTR|DYRK1A_uc002ywj.3_Nonsense_Mutation_p.E737*|DYRK1A_uc002ywm.3_3'UTR|DYRK1A_uc011aei.2_Nonsense_Mutation_p.E507*	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	746					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	p.E746Q(2)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGCTGATAGAGAAGAGTCCCC	0.438													T	38884778	G	T	38884778	4	4	4	1	0	0	0	0	0	1	0	0	4854	943	33	5	2362	5	DYRK1A	21	38884778	Nonsense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	312198	38884778	9245117	4367	6432											
ERG	2078	broad.mit.edu	37	chr21	39755694	39755694	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatcgtagttcatgttgggTttgctcttccgctctcccca	8	12	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:39755694T>C	uc010gnw.3	-	11	1387	c.1092A>G	c.(1090-1092)aaA>aaG	p.K364K	ERG_uc021wjd.1_Intron|ERG_uc002yxa.3_Silent_p.K357K|ERG_uc011aek.2_Silent_p.K265K|ERG_uc010gnv.3_Silent_p.K241K|ERG_uc010gnx.3_Silent_p.K340K|ERG_uc011ael.2_Silent_p.K364K|ERG_uc002yxb.3_Silent_p.K340K	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	364					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				TCATGTTGGGTTTGCTCTTCC	0.577			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								C	39755694	T	C	39755694	2	2	4	1	0	0	0	0	0	0	0	1	5222	1722	60	3		3	ERG	21	39755694	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	870916	39755694	8374201	4368	6433											
CBS	875	broad.mit.edu	37	chr21	44492285	44492285	+	Frame_Shift_Del	DEL	G	G	-													tgtgggccccacttctgcctGgggggtctcagaaggcatgc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:44492285delG	uc002zcu.2	-	3	264	c.19delC	c.(19-21)CAGfs	p.Q7fs	CBS_uc002zct.2_Frame_Shift_Del_p.Q7fs|CBS_uc002zcw.3_Frame_Shift_Del_p.Q7fs|CBS_uc002zcv.2_Frame_Shift_Del_p.Q7fs	NM_000071	NP_000062	P35520	CBS_HUMAN	cystathionine-beta-synthase	7					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding				0					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	ACTTCTGCCTGGGGGGTCTCA	0.662													-	44492285	G	-	44492285	7	5	4	1	0	1	0	1	0	0	0	0	2711	1357	47	0	1696	0	CBS	21	44492285	Frame_Shift_Del	DEL	G	TCGA-BR-4184-01A-01D-1126-08	4736591	44492285	3637610	4369	6434											
CSTB	1476	broad.mit.edu	37	chr21	45194175	45194175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagggagagattggaacaCtcgcaggtgtacgaagtcct	14	7	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:45194175C>T	uc002zdr.3	-	2	314	c.205G>A	c.(205-207)Gtg>Atg	p.V69M		NM_000100	NP_000091	P04080	CYTB_HUMAN	Homo sapiens cystatin B (stefin B) (CSTB), mRNA.	69						cytoplasm|nucleolus	cysteine-type endopeptidase inhibitor activity|protease binding			lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		GATTGGAACACTCGCAGGTGT	0.537													T	45194175	C	T	45194175	3	4	4	1	0	0	0	0	1	0	0	0	3982	565	20	4	95	4	CSTB	21	45194175	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	701890	45194175	2935720	4370	6435											
AGPAT3	56894	broad.mit.edu	37	chr21	45401010	45401010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcagttttgtcttgggCgtctttgccagcggatcacc	10	12	5	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:45401010C>T	uc002zdx.3	+	9	1910	c.1245C>T	c.(1243-1245)ggC>ggT	p.G415G	AGPAT3_uc002zdv.3_Silent_p.G328G|AGPAT3_uc002zdw.3_Silent_p.G328G|AGPAT3_uc002zdy.3_Silent_p.G266G	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 3 (AGPAT3), transcript variant 1, mRNA.	328					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TTGTCTTGGGCGTCTTTGCCA	0.577													T	45401010	C	T	45401010	2	4	4	1	0	0	0	0	0	0	0	1	388	755	27	1		1	AGPAT3	21	45401010	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	206835	45401010	2728885	4371	6436											
TRAPPC10	7109	broad.mit.edu	37	chr21	45479056	45479056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtacgacgaactggacGccctcttctctcagtatgtg	10	12	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:45479056G>A	uc002zea.3	+	5	920	c.751G>A	c.(751-753)Gcc>Acc	p.A251T	TRAPPC10_uc010gpo.3_5'UTR|TRAPPC10_uc002zdz.3_Missense_Mutation_p.A251T	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	251					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CGAACTGGACGCCCTCTTCTC	0.507													A	45479056	G	A	45479056	3	1	4	1	0	0	0	0	1	0	0	0	16454	1087	38	1	773	1	TRAPPC10	21	45479056	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	78046	45479056	2650839	4372	6437											
PWP2	5822	broad.mit.edu	37	chr21	45534069	45534069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcctgcagggggcgatgCgctgctggtcagcctggtct	17	12	2	0	rs151259638		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:45534069C>T	uc002zeb.3	+	3	326	c.236C>T	c.(235-237)gCg>gTg	p.A79V		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	79						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GGGGGCGATGCGCTGCTGGTC	0.617											OREG0026247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	45534069	C	T	45534069	3	4	4	1	0	0	0	0	1	0	0	0	12844	768	27	1	250	1	PWP2	21	45534069	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	55013	45534069	2595826	4373	6438											
PFKL	5211	broad.mit.edu	37	chr21	45738404	45738404	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgctgctggaagccacgcctGacacgccggcctgcgtggtc	14	16	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:45738404G>A	uc002zek.3	+	12	1530	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	PFKL_uc002zel.3_Missense_Mutation_p.D330N|PFKL_uc002zem.3_5'Flank|PFKL_uc002zen.3_5'Flank			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	330					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		AGCCACGCCTGACACGCCGGC	0.662													A	45738404	G	A	45738404	3	1	4	1	0	0	0	0	1	0	0	0	11764	1290	45	4	1026	4	PFKL	21	45738404	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	204335	45738404	2391491	4374	6439											
PFKL	5211	broad.mit.edu	37	chr21	45741708	45741708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccggcatctcccatggaCacacagtatacgtggtgcac	11	13	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:45741708C>T	uc002zek.3	+	15	1830	c.1429C>T	c.(1429-1431)Cac>Tac	p.H477Y	PFKL_uc002zel.3_Missense_Mutation_p.H430Y|PFKL_uc002zem.3_Missense_Mutation_p.H17Y|PFKL_uc002zen.3_Missense_Mutation_p.H17Y			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	430					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CTCCCATGGACACACAGTATA	0.637													T	45741708	C	T	45741708	3	4	4	1	0	0	0	0	1	0	0	0	11764	478	17	4	1338	4	PFKL	21	45741708	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3304	45741708	2388187	4375	6440											
PFKL	5211	broad.mit.edu	37	chr21	45743770	45743770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaccgacttcagcctggGctccgacactgctgtaaatg	11	13	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:45743770G>A	uc002zek.3	+	18	2161	c.1760G>A	c.(1759-1761)gGc>gAc	p.G587D	PFKL_uc002zel.3_Missense_Mutation_p.G540D|PFKL_uc002zem.3_Missense_Mutation_p.G127D|PFKL_uc002zen.3_Missense_Mutation_p.G127D			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	540					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TTCAGCCTGGGCTCCGACACT	0.657													A	45743770	G	A	45743770	3	1	4	1	0	0	0	0	1	0	0	0	11764	1203	42	2	1681	2	PFKL	21	45743770	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2062	45743770	2386125	4376	6441											
TRPM2	7226	broad.mit.edu	37	chr21	45786763	45786763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagaacttcaacatgaagCcgcggctgaagagcattttc	9	11	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:45786763C>T	uc010gpt.1	+	3	650	c.550C>T	c.(550-552)Ccg>Tcg	p.P184S	TRPM2_uc002zet.1_Missense_Mutation_p.P184S|TRPM2_uc002zeu.1_Missense_Mutation_p.P184S|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.P184S|TRPM2_uc002zex.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	184						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CAACATGAAGCCGCGGCTGAA	0.632													T	45786763	C	T	45786763	3	4	4	1	0	0	0	0	1	0	0	0	16583	739	26	2	564	2	TRPM2	21	45786763	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	42993	45786763	2343132	4377	6442											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047615	46047615	+	Frame_Shift_Del	DEL	C	C	-													gccagcttgctgcacttcctCcccctgccagcagtcctact							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:46047615delC	uc002zfp.3	+	1	576	c.527delC	c.(526-528)TCCfs	p.S176fs	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	keratin associated protein 10-9	176	16.|25 X 5 AA repeats of C-C-X(3).					keratin filament					0						TGCACTTCCTCCCCCTGCCAG	0.552													-	46047615	C	-	46047615	7	5	4	1	0	1	0	1	0	0	0	0	8516	855	30	0	529	0	KRTAP10-9	21	46047615	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	260852	46047615	2082280	4378	6443											
POFUT2	23275	broad.mit.edu	37	chr21	46687543	46687543	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggtcaataatcgcaacGcctccgtccttgtagagctc	8	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:46687543G>A	uc002zhc.3	-	7	1123	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	POFUT2_uc002zha.3_Non-coding_Transcript|POFUT2_uc002zhb.3_Non-coding_Transcript|POFUT2_uc002zhd.3_Silent_p.G366G	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript variant 3, mRNA.	366					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TAATCGCAACGCCTCCGTCCT	0.552													A	46687543	G	A	46687543	2	1	4	1	0	0	0	0	0	0	0	1	12184	1074	38	1		1	POFUT2	21	46687543	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	639928	46687543	1442352	4379	6444											
POFUT2	23275	broad.mit.edu	37	chr21	46705800	46705800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggatatagacatccctgcGcaggttgaagccttccgggg	13	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:46705800G>A	uc002zhc.3	-	1	200	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	POFUT2_uc002zhb.3_Non-coding_Transcript|POFUT2_uc002zhd.3_Missense_Mutation_p.R59C|POFUT2_uc011afp.1_Missense_Mutation_p.R59C|POFUT2_uc011afq.1_Missense_Mutation_p.R59C|LOC642852_uc002zhf.3_5'Flank	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript variant 3, mRNA.	59					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		ACATCCCTGCGCAGGTTGAAG	0.557													A	46705800	G	A	46705800	3	1	4	1	0	0	0	0	1	0	0	0	12184	1087	38	1	1285	1	POFUT2	21	46705800	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	18257	46705800	1424095	4380	6445											
COL6A2	1292	broad.mit.edu	37	chr21	47545767	47545767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatccagctggacgacgaaCgtatcgactccctgtcgagc	10	15	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:47545767C>T	uc002zia.1	+	25	2120	c.2038C>T	c.(2038-2040)Cgt>Tgt	p.R680C	COL6A2_uc002zhz.1_Missense_Mutation_p.R680C|COL6A2_uc002zhy.1_Missense_Mutation_p.R680C|COL6A2_uc010gqe.2_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	680	Nonhelical region.|VWFA 2.		R -> H (in dbSNP:rs1042917).		axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGACGACGAACGTATCGACTC	0.627													T	47545767	C	T	47545767	3	4	4	1	0	0	0	0	1	0	0	0	3700	536	19	1	2136	1	COL6A2	21	47545767	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	839967	47545767	584128	4381	6446											
MCM3AP	8888	broad.mit.edu	37	chr21	47665034	47665034	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccaatcccgtcttcgacGtactgaatgagagtctggca	11	11	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:47665034G>A	uc002zir.1	-	22	4761	c.4725C>T	c.(4723-4725)taC>taT	p.Y1575Y	MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Silent_p.Y70Y|MCM3AP_uc002zip.1_Silent_p.Y316Y|MCM3AP_uc002ziq.1_Silent_p.Y502Y|MCM3AP-AS1_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1575					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CGTCTTCGACGTACTGAATGA	0.547													A	47665034	G	A	47665034	2	1	4	1	0	0	0	0	0	0	0	1	9388	1140	40	1		1	MCM3AP	21	47665034	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	119267	47665034	464861	4382	6447											
MCM3AP	8888	broad.mit.edu	37	chr21	47671503	47671503	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctaagtgagttgaaaagCgaaagcgtctgaatcccacc	10	10	1	3	rs149634851	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:47671503C>T	uc002zir.1	-	19	4266	c.4230G>A	c.(4228-4230)tcG>tcA	p.S1410S	MCM3AP-AS1_uc002zim.2_Non-coding_Transcript|MCM3AP-AS1_uc002zin.2_3'UTR|MCM3AP_uc002zip.1_Silent_p.S151S|MCM3AP_uc002ziq.1_Silent_p.S337S|MCM3AP-AS1_uc002zis.1_Non-coding_Transcript	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1410					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AGTTGAAAAGCGAAAGCGTCT	0.398													T	47671503	C	T	47671503	2	4	4	1	0	0	0	0	0	0	0	1	9388	755	27	1		1	MCM3AP	21	47671503	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	6469	47671503	458392	4383	6448											
PCNT	5116	broad.mit.edu	37	chr21	47832880	47832880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttggtgaaaaatgaaatgCgcctgagtctggaggacggc	14	7	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:47832880C>T	uc002zji.4	+	28	6231	c.6124C>T	c.(6124-6126)Cgc>Tgc	p.R2042C	PCNT_uc002zjj.3_Missense_Mutation_p.R1924C	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2042					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AAATGAAATGCGCCTGAGTCT	0.642													T	47832880	C	T	47832880	3	4	4	1	0	0	0	0	1	0	0	0	11590	768	27	1	6238	1	PCNT	21	47832880	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	161377	47832880	297015	4384	6449											
DIP2A	23181	broad.mit.edu	37	chr21	47976004	47976004	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggatattagcgggagtgaaGgtaggtcctctgaaatcttg	15	5	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:47976004G>T	uc002zjo.2	+	29	3681	c.3498_splice	c.e29+1	p.K1166_splice	DIP2A_uc011afy.1_Splice_Site_p.K1102_splice|DIP2A_uc011afz.1_Splice_Site_p.K1162_splice|DIP2A_uc002zjr.3_Splice_Site_p.K133_splice	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	1166					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CGGGAGTGAAGGTAGGTCCTC	0.483													T	47976004	G	T	47976004	5	4	4	1	0	0	0	0	0	0	1	0	4527	1014	35	5	3694	5	DIP2A	21	47976004	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	143124	47976004	153891	4385	6450											
DIP2A	23181	broad.mit.edu	37	chr21	47978163	47978163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgaacctgtcatgtgtgCgcacgtgcatggtggtcgcc	16	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:47978163C>T	uc002zjo.2	+	31	4009	c.3826C>T	c.(3826-3828)Cgc>Tgc	p.R1276C	DIP2A_uc011afz.1_Missense_Mutation_p.R1272C|DIP2A_uc002zjr.3_Missense_Mutation_p.R243C	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	1276					multicellular organismal development	nucleus	catalytic activity|transcription factor binding	p.V1276L(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GTCATGTGTGCGCACGTGCAT	0.662													T	47978163	C	T	47978163	3	4	4	1	0	0	0	0	1	0	0	0	4527	768	27	1	4065	1	DIP2A	21	47978163	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2159	47978163	151732	4386	6451											
DIP2A	23181	broad.mit.edu	37	chr21	47986475	47986475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacacacactgttcacagggCggcacgatgcactgtatgtg	11	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:47986475C>T	uc002zjo.2	+	36	4525	c.4342C>T	c.(4342-4344)Cgg>Tgg	p.R1448W	DIP2A_uc011afz.1_Missense_Mutation_p.R1444W|DIP2A_uc002zjs.2_Missense_Mutation_p.R128W|DIP2A_uc002zjt.2_Non-coding_Transcript	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	1448					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GTTCACAGGGCGGCACGATGC	0.562													T	47986475	C	T	47986475	3	4	4	1	0	0	0	0	1	0	0	0	4527	759	27	1	4601	1	DIP2A	21	47986475	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	8312	47986475	143420	4387	6452											
POTEH	23784	broad.mit.edu	37	chr22	16279297	16279297	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagtaacagtggtgtgaggCcatgctgtaaaacaatataa	10	6	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:16279297C>A	uc010gqp.2	-	3	978	c.926G>T	c.(925-927)gGc>gTc	p.G309V	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.G28V|POTEH_uc002zlj.1_Missense_Mutation_p.G144V	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	309										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGGTGTGAGGCCATGCTGTAA	0.323													A	16279297	C	A	16279297	3	1	4	1	0	0	0	0	1	0	0	0	12267	739	26	5	739	5	POTEH	22	16279297	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08		16279297	35025269	4388	6453											
GAB4	128954	broad.mit.edu	37	chr22	17472887	17472887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgatgtcaaacatataGcccttctgaatctccttctt	5	11	5	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:17472887G>A	uc002zlw.3	-	1	462	c.354C>T	c.(352-354)ggC>ggT	p.G118G	GAB4_uc010gqs.1_Silent_p.G118G	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	118	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CAAACATATAGCCCTTCTGAA	0.502													A	17472887	G	A	17472887	2	1	4	1	0	0	0	0	0	0	0	1	6151	958	34	2		2	GAB4	22	17472887	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1193590	17472887	33831679	4389	6454											
GAB4	128954	broad.mit.edu	37	chr22	17488874	17488874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcgacttcctcagccagCcgctgtacagcacgtggcca	13	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:17488874C>T	uc002zlw.3	-	0	239	c.131G>A	c.(130-132)gGc>gAc	p.G44D	GAB4_uc010gqs.1_Missense_Mutation_p.G44D	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	44	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CCTCAGCCAGCCGCTGTACAG	0.677													T	17488874	C	T	17488874	3	4	4	1	0	0	0	0	1	0	0	0	6151	739	26	2	1633	2	GAB4	22	17488874	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	15987	17488874	33815692	4390	6455											
IL17RA	23765	broad.mit.edu	37	chr22	17581248	17581248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcccttctcttcagtggCgttttaccttcagccacttt	5	15	3	0	rs145378071	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:17581248C>T	uc002zly.3	+	4	558	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	143					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TCTTCAGTGGCGTTTTACCTT	0.547													T	17581248	C	T	17581248	3	4	4	1	0	0	0	0	1	0	0	0	7639	768	27	1	445	1	IL17RA	22	17581248	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	92374	17581248	33723318	4391	6456											
BID	637	broad.mit.edu	37	chr22	18220811	18220811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaagctcctcacgtaggtgCgtaggttctggttaataaaa	10	8	2	0	rs139212717		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:18220811C>T	uc002znd.2	-	4	721	c.548G>A	c.(547-549)cGc>cAc	p.R183H	BID_uc002znc.2_Missense_Mutation_p.R229H|BID_uc021wko.1_Missense_Mutation_p.R87H|BID_uc002zne.2_Missense_Mutation_p.R87H|BID_uc021wkp.1_Missense_Mutation_p.R87H|BID_uc002znf.2_Missense_Mutation_p.R87H|BID_uc010gra.2_Non-coding_Transcript|BID_uc010grc.1_Missense_Mutation_p.R87H|BID_uc010grb.1_Missense_Mutation_p.R183H	NM_001196	NP_001187	P55957	BID_HUMAN	Homo sapiens BH3 interacting domain death agonist (BID), transcript variant 2, mRNA.	183					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding			large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		CACGTAGGTGCGTAGGTTCTG	0.547													T	18220811	C	T	18220811	3	4	4	1	0	0	0	0	1	0	0	0	1430	768	27	1	47	1	BID	22	18220811	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	639563	18220811	33083755	4392	6457											
MICAL3	57553	broad.mit.edu	37	chr22	18368675	18368675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgatggactgtgcgggcGcattctcttcaaatttggcc	12	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:18368675G>A	uc002zng.4	-	15	2563	c.2210C>T	c.(2209-2211)gCg>gTg	p.A737V	MICAL3_uc011agl.2_Missense_Mutation_p.A737V|MICAL3_uc002znh.2_Missense_Mutation_p.A737V|MICAL3_uc002znj.1_Missense_Mutation_p.A437V|MICAL3_uc002znk.1_Missense_Mutation_p.A737V|MICAL3_uc002znl.1_Missense_Mutation_p.A370V|MICAL3_uc002znm.3_Missense_Mutation_p.A238V|MICAL3_uc010grf.3_Missense_Mutation_p.A737V	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	737						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGTGCGGGCGCATTCTCTTC	0.547													A	18368675	G	A	18368675	3	1	4	1	0	0	0	0	1	0	0	0	9571	1087	38	1	4603	1	MICAL3	22	18368675	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	147864	18368675	32935891	4393	6458											
TUBA8	51807	broad.mit.edu	37	chr22	18604435	18604435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggaagcatgtgccccggGccgtcatgatagatctggag	15	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:18604435G>A	uc002znw.1	+	0	562	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	TUBA8_uc002znv.2_Missense_Mutation_p.A65T|TUBA8_uc021wkt.1_5'UTR	NM_001193414	NP_001180343	Q9NY65	TBA8_HUMAN	Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA.	65					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TGTGCCCCGGGCCGTCATGAT	0.547													A	18604435	G	A	18604435	3	1	4	1	0	0	0	0	1	0	0	0	16747	1203	42	2	199	2	TUBA8	22	18604435	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	235760	18604435	32700131	4394	6459											
DGCR14	8220	broad.mit.edu	37	chr22	19127471	19127471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggcattgtcctcactcGtgtagcggctcaggaagaca	13	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:19127471G>A	uc002zou.3	-	3	504	c.467C>T	c.(466-468)aCg>aTg	p.T156M		NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 14 (DGCR14), mRNA.	156					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GTCCTCACTCGTGTAGCGGCT	0.607													A	19127471	G	A	19127471	3	1	4	1	0	0	0	0	1	0	0	0	4460	1145	40	1	991	1	DGCR14	22	19127471	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	523036	19127471	32177095	4395	6460											
HIRA	7290	broad.mit.edu	37	chr22	19346867	19346867	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccacccttaccagctgccCgcagcagtgaggatccggct	11	17	0	1	rs138814028	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:19346867C>T	uc002zpf.1	-	17	2446	c.2226G>A	c.(2224-2226)gcG>gcA	p.A742A	HIRA_uc011agx.1_Silent_p.A608A|HIRA_uc010grn.1_Intron|HIRA_uc010gro.2_Silent_p.A698A|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	742	Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					ACCAGCTGCCCGCAGCAGTGA	0.637													T	19346867	C	T	19346867	2	4	4	1	0	0	0	0	0	0	0	1	7120	639	23	1		1	HIRA	22	19346867	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	219396	19346867	31957699	4396	6461											
DGCR8	54487	broad.mit.edu	37	chr22	20073913	20073913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtacacaggagcagagcgcGacgtgcgggcggagtgcggt	19	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:20073913G>A	uc002zri.3	+	1	856	c.427G>A	c.(427-429)Gac>Aac	p.D143N	DGCR8_uc010grz.3_Missense_Mutation_p.D143N|DGCR8_uc002zrj.3_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	143	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGCAGAGCGCGACGTGCGGGC	0.582													A	20073913	G	A	20073913	3	1	4	1	0	0	0	0	1	0	0	0	4464	1058	37	1	429	1	DGCR8	22	20073913	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	727046	20073913	31230653	4397	6462											
ZDHHC8	29801	broad.mit.edu	37	chr22	20128442	20128442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcggtgagtttgaagccGcctttccttaggcctgaact	11	12	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:20128442G>A	uc002zrr.2	+	6	908	c.801G>A	c.(799-801)ccG>ccA	p.P267P	ZDHHC8_uc002zrq.3_Silent_p.P267P|ZDHHC8_uc010gsa.3_Silent_p.P73P	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	267						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GTTTGAAGCCGCCTTTCCTTA	0.637													A	20128442	G	A	20128442	2	1	4	1	0	0	0	0	0	0	0	1	17618	1074	38	1		1	ZDHHC8	22	20128442	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	54529	20128442	31176124	4398	6463											
ZNF74	7625	broad.mit.edu	37	chr22	20759892	20759892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccctcttcgcccagcaacGcgttcccgaggggggaccct	11	18	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:20759892G>A	uc010gsm.3	+	5	781	c.569G>A	c.(568-570)cGc>cAc	p.R190H	ZNF74_uc002zsg.3_Missense_Mutation_p.R119H|ZNF74_uc002zsh.3_Missense_Mutation_p.R190H|ZNF74_uc002zsi.3_Missense_Mutation_p.R119H|ZNF74_uc010gsn.3_Missense_Mutation_p.R119H	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	Homo sapiens zinc finger protein 74 (ZNF74), transcript variant 1, mRNA.	190					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	p.R190C(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCCCAGCAACGCGTTCCCGAG	0.667													A	20759892	G	A	20759892	3	1	4	1	0	0	0	0	1	0	0	0	18124	1087	38	1	587	1	ZNF74	22	20759892	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	631450	20759892	30544674	4399	6464											
PI4KA	5297	broad.mit.edu	37	chr22	21062348	21062348	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccctcctcagtaggggatgTcattctgatagtactggatc	10	11	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:21062348T>C	uc002zsz.4	-	54	6383	c.6122A>G	c.(6121-6123)gAc>gGc	p.D2041G	PI4KA_uc002zsy.4_Missense_Mutation_p.D851G	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	2041					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GTAGGGGATGTCATTCTGATA	0.612													C	21062348	T	C	21062348	3	2	4	1	0	0	0	0	1	0	0	0	11873	1667	58	3	16	3	PI4KA	22	21062348	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	302456	21062348	30242218	4400	6465											
SERPIND1	3053	broad.mit.edu	37	chr22	21134082	21134082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgttggcatttctactgCgatgggtatgatttccttag	10	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:21134082C>T	uc002ztc.2	+	0	569	c.566C>T	c.(565-567)gCg>gTg	p.A189V	PI4KA_uc002zsz.4_Intron|SERPIND1_uc002ztb.1_Missense_Mutation_p.A161V	NM_000185	NP_000176	P05546	HEP2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade D (heparin cofactor), member 1 (SERPIND1), mRNA.	161					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	ATTTCTACTGCGATGGGTATG	0.443													T	21134082	C	T	21134082	3	4	4	1	0	0	0	0	1	0	0	0	14110	768	27	1	484	1	SERPIND1	22	21134082	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	71734	21134082	30170484	4401	6466											
SLC7A4	6545	broad.mit.edu	37	chr22	21385306	21385306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggccagaggcacagaccGccgtgggttctgggcctcct	15	13	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:21385306G>A	uc002zud.3	-	1	864	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W	SLC7A4_uc002zue.3_Missense_Mutation_p.R266W	NM_004173	NP_004164	O43246	CTR4_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA.	266					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGCACAGACCGCCGTGGGTTC	0.632													A	21385306	G	A	21385306	3	1	4	1	0	0	0	0	1	0	0	0	14699	1086	38	1	1127	1	SLC7A4	22	21385306	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	251224	21385306	29919260	4402	6467											
HIC2	23119	broad.mit.edu	37	chr22	21799218	21799218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgcccacaggtggtgcGcgtgggcagggcgcggggac	19	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:21799218G>A	uc002zur.4	+	2	264	c.34G>A	c.(34-36)Gcg>Acg	p.A12T	HIC2_uc002zus.4_Missense_Mutation_p.A12T	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	12					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CAGGTGGTGCGCGTGGGCAGG	0.672													A	21799218	G	A	21799218	3	1	4	1	0	0	0	0	1	0	0	0	7102	1087	38	1	40	1	HIC2	22	21799218	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	413912	21799218	29505348	4403	6468											
HIC2	23119	broad.mit.edu	37	chr22	21800560	21800560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctctgagcagctcaatgCgcacgtggagactcacacgg	12	13	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:21800560C>T	uc002zur.4	+	2	1606	c.1376C>T	c.(1375-1377)gCg>gTg	p.A459V	HIC2_uc002zus.4_Missense_Mutation_p.A459V	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	459					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CAGCTCAATGCGCACGTGGAG	0.612													T	21800560	C	T	21800560	3	4	4	1	0	0	0	0	1	0	0	0	7102	768	27	1	1382	1	HIC2	22	21800560	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1342	21800560	29504006	4404	6469											
RAB36	9609	broad.mit.edu	37	chr22	23494702	23494702	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctacgtggggaagaccagCctcatccacaggtacaaggc	11	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:23494702C>T	uc002zwv.1	+	3	454	c.414C>T	c.(412-414)agC>agT	p.S138S	RAB36_uc010gtw.1_Intron	NM_004914	NP_004905	O95755	RAB36_HUMAN	Homo sapiens RAB36, member RAS oncogene family (RAB36), mRNA.	138					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		GGAAGACCAGCCTCATCCACA	0.567													T	23494702	C	T	23494702	2	4	4	1	0	0	0	0	0	0	0	1	12926	738	26	2		2	RAB36	22	23494702	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1694142	23494702	27809864	4405	6470											
IGLL1	3543	broad.mit.edu	37	chr22	23915549	23915549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggacctccactgctcgggCgtcaggctcaggtagctgct	14	14	2	0	rs146592375		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:23915549C>T	uc002zxd.3	-	2	664	c.546G>A	c.(544-546)acG>acA	p.T182T	IGLL1_uc002zxe.3_3'UTR	NM_020070	NP_064455	P15814	IGLL1_HUMAN	Homo sapiens immunoglobulin lambda-like polypeptide 1 (IGLL1), transcript variant 1, mRNA.	182	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						ACTGCTCGGGCGTCAGGCTCA	0.612													T	23915549	C	T	23915549	2	4	4	1	0	0	0	0	0	0	0	1	7593	755	27	1		1	IGLL1	22	23915549	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	420847	23915549	27389017	4406	6471											
C22orf43	51233	broad.mit.edu	37	chr22	23974150	23974150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagattcataacagggtgCgtccttccccctgggccagc	10	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:23974150C>T	uc002zxf.3	-	0	359	c.61G>A	c.(61-63)Gca>Aca	p.A21T		NM_016449	NP_057533	Q6PGQ1	CV043_HUMAN	Homo sapiens chromosome 22 open reading frame 43 (C22orf43), mRNA.	21										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						TAACAGGGTGCGTCCTTCCCC	0.537													T	23974150	C	T	23974150	3	4	4	1	0	0	0	0	1	0	0	0	2150	768	27	1	676	1	C22orf43	22	23974150	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	58601	23974150	27330416	4407	6472											
SMARCB1	6598	broad.mit.edu	37	chr22	24175857	24175859	+	In_Frame_Del	DEL	AGA	AGA	-													tctgacagacgctgagatggAgaagaagatccgcgaccagg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:24175856_24175858GAGA>G	uc002zyd.3	+	7	1318_1320	c.1111_1113GAGA>G	c.(1111-1113)gag>G	p.E371del	SMARCB1_uc002zya.3_Intron|SMARCB1_uc002zyb.3_In_Frame_Del_p.E362del|SMARCB1_uc002zyc.3_In_Frame_Del_p.E353del	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	362					DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(2)|p.N371S(1)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CGCTGAGATGGAGAAGAAGATCC	0.631			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid							-	24175859	AGA	-	24175857	7	5	4	1	0	1	0	1	0	0	0	0	14774	304	11	0	1115	0	SMARCB1	22	24175857	In_Frame_Del	DEL	AGA	TCGA-BR-4184-01A-01D-1126-08	201707	24175857	27128709	4408	6473											
CABIN1	23523	broad.mit.edu	37	chr22	24567727	24567727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagcaccccaaagacagccGagagaacttctttcctgtga	8	12	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:24567727G>A	uc002zzi.1	+	33	5931	c.5804G>A	c.(5803-5805)cGa>cAa	p.R1935Q	CABIN1_uc021wnc.1_Missense_Mutation_p.R1885Q|CABIN1_uc002zzj.1_Missense_Mutation_p.R1856Q|CABIN1_uc002zzl.2_Missense_Mutation_p.R1935Q|CABIN1_uc010gul.1_5'UTR	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1935					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAAGACAGCCGAGAGAACTTC	0.622													A	24567727	G	A	24567727	3	1	4	1	0	0	0	0	1	0	0	0	2528	1058	37	1	5934	1	CABIN1	22	24567727	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	391870	24567727	26736839	4409	6474											
SUSD2	56241	broad.mit.edu	37	chr22	24580172	24580172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacgcgttggcaatactacGgcaccgccaacacctcaggc	10	15	1	1	rs114108445	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:24580172G>A	uc002zzn.1	+	3	552	c.508G>A	c.(508-510)Ggc>Agc	p.G170S		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	170					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCAATACTACGGCACCGCCAA	0.597													A	24580172	G	A	24580172	3	1	4	1	0	0	0	0	1	0	0	0	15405	1116	39	1	522	1	SUSD2	22	24580172	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	12445	24580172	26724394	4410	6475											
ADRBK2	157	broad.mit.edu	37	chr22	26110386	26110386	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataatcagctacttgattgCgaccaagaactctacaagaa	6	9	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:26110386C>T	uc003abx.4	+	17	1650	c.1503C>T	c.(1501-1503)tgC>tgT	p.C501C	ADRBK2_uc003abw.2_Silent_p.C388C|ADRBK2_uc003aby.4_Non-coding_Transcript	NM_005160	NP_005151	P35626	ARBK2_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	501	AGC-kinase C-terminal.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TACTTGATTGCGACCAAGAAC	0.398													T	26110386	C	T	26110386	2	4	4	1	0	0	0	0	0	0	0	1	344	776	27	1		1	ADRBK2	22	26110386	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1530214	26110386	25194180	4411	6476											
MYO18B	84700	broad.mit.edu	37	chr22	26157081	26157081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccatctcatcacgcctcGccctgtgggagcagaaggaa	12	13	2	1	rs139296373	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:26157081G>A	uc003abz.1	+	1	272	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	MYO18B_uc003aca.1_5'Flank|MYO18B_uc010guy.1_5'Flank|MYO18B_uc010guz.1_5'Flank|MYO18B_uc011aka.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	8						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.A8T(2)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ATCACGCCTCGCCCTGTGGGA	0.592													A	26157081	G	A	26157081	3	1	4	1	0	0	0	0	1	0	0	0	10066	1087	38	1	24	1	MYO18B	22	26157081	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	46695	26157081	25147485	4412	6477											
MYO18B	84700	broad.mit.edu	37	chr22	26173737	26173737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggcaggcagtgtggatgGcagggtctcaggtatggtgg	20	5	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:26173737G>A	uc003abz.1	+	7	2307	c.2057G>A	c.(2056-2058)gGc>gAc	p.G686D	MYO18B_uc003aca.1_Missense_Mutation_p.G567D|MYO18B_uc010guy.1_Missense_Mutation_p.G567D|MYO18B_uc010guz.1_Missense_Mutation_p.G567D|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.G199D	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	686	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGTGTGGATGGCAGGGTCTCA	0.582													A	26173737	G	A	26173737	3	1	4	1	0	0	0	0	1	0	0	0	10066	1203	42	2	2083	2	MYO18B	22	26173737	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	16656	26173737	25130829	4413	6478											
MYO18B	84700	broad.mit.edu	37	chr22	26299648	26299648	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcaggtggagatgctacaGgaccataaacgggagctgct	14	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:26299648G>T	uc003abz.1	+	30	5248	c.4998G>T	c.(4996-4998)caG>caT	p.Q1666H	MYO18B_uc003aca.1_Missense_Mutation_p.Q1547H|MYO18B_uc010guy.1_Missense_Mutation_p.Q1548H|MYO18B_uc010guz.1_Missense_Mutation_p.Q1546H|MYO18B_uc011aka.1_Missense_Mutation_p.Q820H|MYO18B_uc011akb.1_Missense_Mutation_p.Q1179H	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1666	Gln-rich.|Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGATGCTACAGGACCATAAAC	0.552													T	26299648	G	T	26299648	3	4	4	1	0	0	0	0	1	0	0	0	10066	991	35	5	5116	5	MYO18B	22	26299648	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	125911	26299648	25004918	4414	6479											
SEZ6L	23544	broad.mit.edu	37	chr22	26688919	26688919	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccctatgtggcccacacActcccccagaggccagaacc	8	19	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:26688919A>G	uc003acb.3	+	1	838	c.642A>G	c.(640-642)acA>acG	p.T214T	SEZ6L_uc003acd.3_Silent_p.T214T|SEZ6L_uc011akd.2_Silent_p.T214T|SEZ6L_uc003ace.3_Silent_p.T214T|SEZ6L_uc011akc.2_Silent_p.T214T|SEZ6L_uc003acc.3_Silent_p.T214T|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	214						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGGCCCACACACTCCCCCAGA	0.647													G	26688919	A	G	26688919	2	3	4	1	0	0	0	0	0	0	0	1	14143	146	6	3		3	SEZ6L	22	26688919	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	389271	26688919	24615647	4415	6480											
ASPHD2	57168	broad.mit.edu	37	chr22	26839084	26839084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcagaggatggcccacGggtggttttcatggtggatt	15	7	2	1	rs138986249		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:26839084G>A	uc003acg.2	+	3	1419	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA.	341					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	p.R315L(1)|p.P341P(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GATGGCCCACGGGTGGTTTTC	0.592													A	26839084	G	A	26839084	3	1	4	1	0	0	0	0	1	0	0	0	1055	1116	39	1	1032	1	ASPHD2	22	26839084	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	150165	26839084	24465482	4416	6481											
TFIP11	24144	broad.mit.edu	37	chr22	26890122	26890122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccaacgttggaggacaccGcccggttcatgatatcaagt	10	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:26890122G>A	uc003acr.2	-	12	2515	c.2141C>T	c.(2140-2142)gCg>gTg	p.A714V	TFIP11_uc003acq.2_Missense_Mutation_p.A73V|TFIP11_uc003acs.2_Missense_Mutation_p.A714V|TFIP11_uc003act.2_Missense_Mutation_p.A714V	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	714					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GGAGGACACCGCCCGGTTCAT	0.453													A	26890122	G	A	26890122	3	1	4	1	0	0	0	0	1	0	0	0	15804	1087	38	1	380	1	TFIP11	22	26890122	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	51038	26890122	24414444	4417	6482											
TPST2	8459	broad.mit.edu	37	chr22	26937372	26937372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgccactgcgaggcacGccacccacgaagatgagcgg	15	13	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:26937372G>A	uc003acw.3	-	2	566	c.225C>T	c.(223-225)ggC>ggT	p.G75G	TPST2_uc003acx.3_Silent_p.G75G|TPST2_uc011akf.1_Silent_p.G75G	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	75					peptidyl-tyrosine sulfation	Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TGCGAGGCACGCCACCCACGA	0.687													A	26937372	G	A	26937372	2	1	4	1	0	0	0	0	0	0	0	1	16425	1074	38	1		1	TPST2	22	26937372	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	47250	26937372	24367194	4418	6483											
MN1	4330	broad.mit.edu	37	chr22	28194145	28194145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaatttactggccgaggtgCgctggctgggctggaaatca	14	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:28194145C>T	uc003adj.3	-	0	3342	c.2387G>A	c.(2386-2388)cGc>cAc	p.R796H		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	796							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GGCCGAGGTGCGCTGGCTGGG	0.701			T	ETV6	"AML, meningioma"								T	28194145	C	T	28194145	3	4	4	1	0	0	0	0	1	0	0	0	9673	768	27	1	1583	1	MN1	22	28194145	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1256773	28194145	23110421	4419	6484											
MN1	4330	broad.mit.edu	37	chr22	28195159	28195159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgcccggaaagtcgaagCgcggcctcttggccacgttc	13	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:28195159C>T	uc003adj.3	-	0	2328	c.1373G>A	c.(1372-1374)cGc>cAc	p.R458H		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	458							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						AAAGTCGAAGCGCGGCCTCTT	0.647			T	ETV6	"AML, meningioma"								T	28195159	C	T	28195159	3	4	4	1	0	0	0	0	1	0	0	0	9673	768	27	1	2597	1	MN1	22	28195159	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1014	28195159	23109407	4420	6485											
AP1B1	162	broad.mit.edu	37	chr22	29745285	29745285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgatccgttccgcgtactcGcccacaatccagatcatggc	8	16	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:29745285G>A	uc003afj.3	-	10	1546	c.1359C>T	c.(1357-1359)ggC>ggT	p.G453G	AP1B1_uc003afl.3_Silent_p.G453G|AP1B1_uc003afi.3_Silent_p.G453G|AP1B1_uc011ako.2_Silent_p.G6G	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	453					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity	p.G453G(2)		endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCGCGTACTCGCCCACAATCC	0.602													A	29745285	G	A	29745285	2	1	4	1	0	0	0	0	0	0	0	1	731	1074	38	1		1	AP1B1	22	29745285	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1550126	29745285	21559281	4421	6486											
CABP7	164633	broad.mit.edu	37	chr22	30125542	30125542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggccaaccaggtgctgcGcagtggcatgaagtagacgc	15	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:30125542G>A	uc003agl.3	+	4	702	c.632G>A	c.(631-633)cGc>cAc	p.R211H		NM_182527	NP_872333	Q86V35	CABP7_HUMAN	Homo sapiens calcium binding protein 7 (CABP7), mRNA.	211						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			CAGGTGCTGCGCAGTGGCATG	0.647													A	30125542	G	A	30125542	3	1	4	1	0	0	0	0	1	0	0	0	2535	1087	38	1	650	1	CABP7	22	30125542	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	380257	30125542	21179024	4422	6487											
ASCC2	84164	broad.mit.edu	37	chr22	30221725	30221725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgttgtctttagggggCggtttgtataacacaaaata	12	4	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:30221725C>T	uc003agr.3	-	2	270	c.126G>A	c.(124-126)ccG>ccA	p.P42P	ASCC2_uc011akr.2_Intron|ASCC2_uc003ags.3_Non-coding_Transcript	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA.	42					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CTTTAGGGGGCGGTTTGTATA	0.557													T	30221725	C	T	30221725	2	4	4	1	0	0	0	0	0	0	0	1	1032	755	27	1		1	ASCC2	22	30221725	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	96183	30221725	21082841	4423	6488											
SF3A1	10291	broad.mit.edu	37	chr22	30730631	30730631	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggccaggtggatgactgcGccattggccatgttgtagta	15	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:30730631G>A	uc003ahl.3	-	15	2466	c.2334C>T	c.(2332-2334)ggC>ggT	p.G778G	SF3A1_uc021wnt.1_Silent_p.G713G	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	778	Ubiquitin-like.				nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GGATGACTGCGCCATTGGCCA	0.542													A	30730631	G	A	30730631	2	1	4	1	0	0	0	0	0	0	0	1	14146	1074	38	1		1	SF3A1	22	30730631	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	508906	30730631	20573935	4424	6489											
SF3A1	10291	broad.mit.edu	37	chr22	30734847	30734847	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtggctgaagatggtggCggtggctgttgagggatttc	19	4	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:30734847C>T	uc003ahl.3	-	10	1806	c.1674G>A	c.(1672-1674)ccG>ccA	p.P558P	SF3A1_uc021wnt.1_Silent_p.P493P	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	558	Poly-Pro.				nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						AAGATGGTGGCGGTGGCTGTT	0.557													T	30734847	C	T	30734847	2	4	4	1	0	0	0	0	0	0	0	1	14146	755	27	1		1	SF3A1	22	30734847	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4216	30734847	20569719	4425	6490											
SMTN	6525	broad.mit.edu	37	chr22	31484712	31484712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctggtgagtatgaggagCgcaagctgatccgagctgcc	16	10	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:31484712C>T	uc003ajl.2	+	4	563	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	SMTN_uc003ajk.2_Missense_Mutation_p.R108C|SMTN_uc003ajm.2_Missense_Mutation_p.R108C|SMTN_uc011ale.2_Missense_Mutation_p.R162C|SMTN_uc011alf.2_Missense_Mutation_p.R164C|SMTN_uc003ajn.2_Missense_Mutation_p.R100C|SMTN_uc011alg.2_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	108					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GTATGAGGAGCGCAAGCTGAT	0.642													T	31484712	C	T	31484712	3	4	4	1	0	0	0	0	1	0	0	0	14814	768	27	1	336	1	SMTN	22	31484712	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	749865	31484712	19819854	4426	6491											
PLA2G3	50487	broad.mit.edu	37	chr22	31533804	31533804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgttggctttgctggggcGcttggaccctttctgatgtg	16	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:31533804G>A	uc003aka.3	-	3	1087	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	320					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TTGCTGGGGCGCTTGGACCCT	0.657													A	31533804	G	A	31533804	3	1	4	1	0	0	0	0	1	0	0	0	12000	1087	38	1	587	1	PLA2G3	22	31533804	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	49092	31533804	19770762	4427	6492											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31854475	31854475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaccgaagccaagcatgGcaccttatcaaggttaaaga	8	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:31854475G>A	uc003akz.2	-	6	1147	c.949C>T	c.(949-951)Cca>Tca	p.P317S	EIF4ENIF1_uc003akx.2_5'Flank|EIF4ENIF1_uc003aky.2_5'Flank|EIF4ENIF1_uc003ala.2_Missense_Mutation_p.P317S|EIF4ENIF1_uc003alb.2_Missense_Mutation_p.P154S	NM_001164501	NP_062817	Q9NRA8	4ET_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E nuclear import factor 1 (EIF4ENIF1), transcript variant 2, mRNA.	317						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCCAAGCATGGCACCTTATCA	0.453													A	31854475	G	A	31854475	3	1	4	1	0	0	0	0	1	0	0	0	5035	1203	42	2	2063	2	EIF4ENIF1	22	31854475	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	320671	31854475	19450091	4428	6493											
SLC5A4	6527	broad.mit.edu	37	chr22	32650199	32650199	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggttggtcttcagcatcGcctgagcagaagggaagaca	13	10	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:32650199G>A	uc003ami.3	-	2	138	c.136_splice	c.e2-1	p.A46_splice		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	46			A -> T (in dbSNP:rs2235171).		carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTCAGCATCGCCTGAGCAGA	0.572													A	32650199	G	A	32650199	5	1	4	1	0	0	0	0	0	0	1	0	14667	1101	38	1	1898	1	SLC5A4	22	32650199	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	795724	32650199	18654367	4429	6494											
MCM5	4174	broad.mit.edu	37	chr22	35802622	35802622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccgtgccaaggccacccGcatctctatccagtgccgca	10	17	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:35802622G>A	uc003anu.4	+	4	594	c.500G>A	c.(499-501)cGc>cAc	p.R167H	MCM5_uc003anv.4_Missense_Mutation_p.R124H|MCM5_uc010gws.2_5'Flank	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	167					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						AAGGCCACCCGCATCTCTATC	0.607													A	35802622	G	A	35802622	3	1	4	1	0	0	0	0	1	0	0	0	9390	1087	38	1	514	1	MCM5	22	35802622	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	3152423	35802622	15501944	4430	6495											
RASD2	23551	broad.mit.edu	37	chr22	35947713	35947713	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaacaagaacgaccacggCgagctgtgccgccaggtgcc	14	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:35947713C>T	uc003anx.3	+	2	640	c.435C>T	c.(433-435)ggC>ggT	p.G145G	RASD2_uc003any.3_Silent_p.G145G	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	145					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						ACGACCACGGCGAGCTGTGCC	0.617													T	35947713	C	T	35947713	2	4	4	1	0	0	0	0	0	0	0	1	13067	755	27	1		1	RASD2	22	35947713	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	145091	35947713	15356853	4431	6496											
APOL6	80830	broad.mit.edu	37	chr22	36055294	36055294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgcgggaacaacactggCgatgaccaaaaatgctcgcg	11	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:36055294C>T	uc003aoe.3	+	2	977	c.683C>T	c.(682-684)gCg>gTg	p.A228V	APOL6_uc003aod.3_Non-coding_Transcript	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	Homo sapiens apolipoprotein L, 6 (APOL6), mRNA.	228					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						ACAACACTGGCGATGACCAAA	0.572													T	36055294	C	T	36055294	3	4	4	1	0	0	0	0	1	0	0	0	810	768	27	1	689	1	APOL6	22	36055294	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	107581	36055294	15249272	4432	6497											
TMPRSS6	164656	broad.mit.edu	37	chr22	37462911	37462911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtagccggcacacagcatGcgtggcgtcacctggtagcg	15	13	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:37462911G>A	uc003aqt.1	-	17	2333	c.2271C>T	c.(2269-2271)cgC>cgT	p.R757R	TMPRSS6_uc003aqs.1_Silent_p.R744R	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	744	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CACACAGCATGCGTGGCGTCA	0.612													A	37462911	G	A	37462911	2	1	4	1	0	0	0	0	0	0	0	1	16248	1306	46	2		2	TMPRSS6	22	37462911	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1407617	37462911	13841655	4433	6498											
TMPRSS6	164656	broad.mit.edu	37	chr22	37471264	37471264	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttgatggtgatcccggccGtggccaccacggggatcctc	14	13	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:37471264G>T	uc003aqt.1	-	10	1315	c.1253C>A	c.(1252-1254)aCg>aAg	p.T418K	TMPRSS6_uc003aqs.1_Missense_Mutation_p.T427K	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	427	CUB 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GATCCCGGCCGTGGCCACCAC	0.647													T	37471264	G	T	37471264	3	4	4	1	0	0	0	0	1	0	0	0	16248	1145	40	5	1187	5	TMPRSS6	22	37471264	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	8353	37471264	13833302	4434	6499											
SSTR3	6753	broad.mit.edu	37	chr22	37603530	37603530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagggccagtaggacagggCgttctgggcggccaggaagg	20	8	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:37603530C>T	uc003ara.3	-	1	375	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	SSTR3_uc003arb.3_Missense_Mutation_p.A105T|SSTR3_uc021wos.1_Missense_Mutation_p.A105T	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	105					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	p.A105A(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						TAGGACAGGGCGTTCTGGGCG	0.622													T	37603530	C	T	37603530	3	4	4	1	0	0	0	0	1	0	0	0	15198	768	27	1	947	1	SSTR3	22	37603530	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	132266	37603530	13701036	4435	6500											
TRIOBP	11078	broad.mit.edu	37	chr22	38119860	38119860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaccccagaacatcctgcGcccagcgggacaatcccaga	8	17	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:38119860G>A	uc003atr.3	+	6	1568	c.1297G>A	c.(1297-1299)Gcc>Acc	p.A433T	TRIOBP_uc003atu.3_Missense_Mutation_p.A261T|TRIOBP_uc003atq.1_Missense_Mutation_p.A433T|TRIOBP_uc003ats.1_Missense_Mutation_p.A261T	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	433					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AACATCCTGCGCCCAGCGGGA	0.582													A	38119860	G	A	38119860	3	1	4	1	0	0	0	0	1	0	0	0	16550	1087	38	1	1315	1	TRIOBP	22	38119860	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	516330	38119860	13184706	4436	6501											
DDX17	10521	broad.mit.edu	37	chr22	38895455	38895456	+	Frame_Shift_Ins	INS	-	-	C													gggtttaggacaaacatctcINScccccctcactgtaatctcc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:38895454_38895455T>TC	uc003avy.4	-	2	591_592	c.488_489A>GA	c.(487-489)ggafs	p.G163fs	DDX17_uc003avx.4_Frame_Shift_Ins_p.G163fs|DDX17_uc011anu.2_Frame_Shift_Ins_p.G76fs	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381													C	38895456	-	C	38895455	7	5	4	1	0	1	1	0	0	0	0	0	4344	855	30	0	1751	0	DDX17	22	38895455	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	775595	38895455	12409111	4437	6502											
DMC1	11144	broad.mit.edu	37	chr22	38934370	38934370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttcggccaactccccacgGccactgaaatccactcgaaa	7	17	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:38934370G>A	uc003avz.1	-	10	880	c.705C>T	c.(703-705)ggC>ggT	p.G235G	DMC1_uc011anv.1_Silent_p.G180G	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	235					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					ACTCCCCACGGCCACTGAAAT	0.388								Homologous recombination					A	38934370	G	A	38934370	2	1	4	1	0	0	0	0	0	0	0	1	4579	1190	42	2		2	DMC1	22	38934370	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	38915	38934370	12370196	4438	6503											
SUN2	25777	broad.mit.edu	37	chr22	39148607	39148607	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcaccctgggagtagcgCgtgaggcgctggcttcttcg	15	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:39148607C>T	uc011anz.2	-	2	183	c.132G>A	c.(130-132)acG>acA	p.T44T	SUN2_uc011aoa.2_Silent_p.T44T|SUN2_uc003awh.2_Silent_p.T9T|SUN2_uc010gxq.2_Silent_p.T9T|SUN2_uc003awi.2_Silent_p.T9T|SUN2_uc010gxr.2_Silent_p.T9T	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 2 (SUN2), transcript variant 2, mRNA.	9	LMNA-binding (By similarity).|Ser-rich.				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|endosome membrane|integral to membrane|nuclear inner membrane	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GGGAGTAGCGCGTGAGGCGCT	0.592													T	39148607	C	T	39148607	2	4	4	1	0	0	0	0	0	0	0	1	15389	755	27	1		1	SUN2	22	39148607	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	214237	39148607	12155959	4439	6504											
APOBEC3D	140564	broad.mit.edu	37	chr22	39418941	39418941	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtgaaaataaagaggggCcgctcaaatctcctttggga	12	7	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:39418941C>T	uc003awt.4	+	1	539	c.132C>T	c.(130-132)ggC>ggT	p.G44G	APOBEC3D_uc021wpq.1_Silent_p.G44G|APOBEC3D_uc010gxu.3_5'UTR|APOBEC3D_uc003awu.4_Silent_p.G44G	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (APOBEC3D), mRNA.	44					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TAAAGAGGGGCCGCTCAAATC	0.502													T	39418941	C	T	39418941	2	4	4	1	0	0	0	0	0	0	0	1	792	726	26	2		2	APOBEC3D	22	39418941	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	270334	39418941	11885625	4440	6505											
APOBEC3F	200316	broad.mit.edu	37	chr22	39482482	39482482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcctgtgcatcttcactGcccgcatctatgatgatcaa	8	12	4	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:39482482G>A	uc021wpr.1	+	5	1227	c.934G>A	c.(934-936)Gcc>Acc	p.A312T	APOBEC3F_uc003awx.3_Missense_Mutation_p.A312T|APOBEC3F_uc003awy.3_Missense_Mutation_p.A245T	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.	312					DNA cytosine deamination|base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	RNA binding|cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					CATCTTCACTGCCCGCATCTA	0.512													A	39482482	G	A	39482482	3	1	4	1	0	0	0	0	1	0	0	0	793	1319	46	2		2	APOBEC3F	22	39482482	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	63541	39482482	11822084	4441	6506											
TAB1	10454	broad.mit.edu	37	chr22	39811575	39811575	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accgagtgaccaacttcgtgGcccagcggctgtccgcagag	13	14	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:39811575G>T	uc003axt.3	+	2	290	c.241G>T	c.(241-243)Gcc>Tcc	p.A81S	TAB1_uc003axr.3_Missense_Mutation_p.A157S|TAB1_uc011aok.2_5'UTR|TAB1_uc003axu.1_Missense_Mutation_p.A81S	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	81	PP2C-like.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CAACTTCGTGGCCCAGCGGCT	0.637													T	39811575	G	T	39811575	3	4	4	1	0	0	0	0	1	0	0	0	15492	1203	42	5	251	5	TAB1	22	39811575	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	329093	39811575	11492991	4442	6507											
MGAT3	4248	broad.mit.edu	37	chr22	39883366	39883366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaggatgaagatgagacGctacaagctctttctcatgt	10	10	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:39883366G>A	uc003axv.4	+	1	253	c.14G>A	c.(13-15)cGc>cAc	p.R5H	MGAT3_uc010gxy.3_Missense_Mutation_p.R5H	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	5					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					AAGATGAGACGCTACAAGCTC	0.567													A	39883366	G	A	39883366	3	1	4	1	0	0	0	0	1	0	0	0	9544	1087	38	1	16	1	MGAT3	22	39883366	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	71791	39883366	11421200	4443	6508											
CACNA1I	8911	broad.mit.edu	37	chr22	40056386	40056386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactcggacgaggaccagaGctcatccaacatagaagagt	10	11	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:40056386G>A	uc003ayc.3	+	14	2642	c.2642G>A	c.(2641-2643)aGc>aAc	p.S881N	CACNA1I_uc003ayd.3_Missense_Mutation_p.S846N|CACNA1I_uc003aye.3_Missense_Mutation_p.S796N|CACNA1I_uc003ayf.3_Missense_Mutation_p.S761N	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	881					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GAGGACCAGAGCTCATCCAAC	0.577													A	40056386	G	A	40056386	3	1	4	1	0	0	0	0	1	0	0	0	2546	971	34	2	2700	2	CACNA1I	22	40056386	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	173020	40056386	11248180	4444	6509											
GRAP2	9402	broad.mit.edu	37	chr22	40365422	40365422	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgtatgtttctaggaacgccGaggaggcagccttgacataa	12	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:40365422G>T	uc003ayh.2	+	6	961	c.698G>T	c.(697-699)cGa>cTa	p.R233L	GRAP2_uc011aom.2_Missense_Mutation_p.R207L|GRAP2_uc011aon.2_Missense_Mutation_p.R167L|GRAP2_uc010gya.2_Missense_Mutation_p.R233L|GRAP2_uc011aoo.2_Missense_Mutation_p.R161L|GRAP2_uc011aop.2_Missense_Mutation_p.R193L|GRAP2_uc011aoq.2_Missense_Mutation_p.R120L|GRAP2_uc003ayj.2_Missense_Mutation_p.R233L	NM_004810	NP_004801	O75791	GRAP2_HUMAN	Homo sapiens GRB2-related adaptor protein 2 (GRAP2), mRNA.	233					Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway|cell-cell signaling	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TAGGAACGCCGAGGAGGCAGC	0.572													T	40365422	G	T	40365422	3	4	4	1	0	0	0	0	1	0	0	0	6754	1058	37	5	720	5	GRAP2	22	40365422	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	309036	40365422	10939144	4445	6510											
TNRC6B	23112	broad.mit.edu	37	chr22	40681651	40681651	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttttctgtttacagggCggtagtcatggtttgtttgg	13	6	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:40681651C>T	uc011aor.2	+	11	3796	c.3585C>T	c.(3583-3585)ggC>ggT	p.G1195G	TNRC6B_uc003aym.3_Silent_p.G391G|TNRC6B_uc003ayn.4_Silent_p.G1085G|TNRC6B_uc003ayo.3_Silent_p.G942G	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1195	Gln-rich.				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						GTTTACAGGGCGGTAGTCATG	0.463													T	40681651	C	T	40681651	2	4	4	1	0	0	0	0	0	0	0	1	16338	755	27	1		1	TNRC6B	22	40681651	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	316229	40681651	10622915	4446	6511											
TNRC6B	23112	broad.mit.edu	37	chr22	40717102	40717102	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attactccttagattgatggGtcaaccttgagaacgatctg	9	8	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:40717102G>A	uc011aor.2	+	21	5194	c.4983G>A	c.(4981-4983)ggG>ggA	p.G1661G	TNRC6B_uc003aym.3_Silent_p.G857G|TNRC6B_uc003ayn.4_Silent_p.G1551G|TNRC6B_uc003ayo.3_Silent_p.G1408G	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1661	RRM.				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						AGATTGATGGGTCAACCTTGA	0.473													A	40717102	G	A	40717102	2	1	4	1	0	0	0	0	0	0	0	1	16338	1248	44	4		4	TNRC6B	22	40717102	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	35451	40717102	10587464	4447	6512											
DNAJB7	150353	broad.mit.edu	37	chr22	41257568	41257568	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaatttctcaaaaattggaTattcactggcagtggagaaa	8	5	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:41257568T>A	uc003azj.3	-	0	563	c.431A>T	c.(430-432)tAt>tTt	p.Y144F	XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_Intron|XPNPEP3_uc003azg.2_Intron|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA.	144					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						AAAAATTGGATATTCACTGGC	0.408													A	41257568	T	A	41257568	3	1	4	1	0	0	0	0	1	0	0	0	4625	1406	49	5	502	5	DNAJB7	22	41257568	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	540466	41257568	10046998	4448	6513											
EP300	2033	broad.mit.edu	37	chr22	41489028	41489028	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatggccgagaatgtggtggAaccggggccgccttcagcca	15	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:41489028A>G	uc003azl.4	+	0	415	c.20A>G	c.(19-21)gAa>gGa	p.E7G		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	7	Interaction with ALX1.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AATGTGGTGGAACCGGGGCCG	0.607			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				G	41489028	A	G	41489028	3	3	4	1	0	0	0	0	1	0	0	0	5148	246	9	3	22	3	EP300	22	41489028	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	231460	41489028	9815538	4449	6514											
EP300	2033	broad.mit.edu	37	chr22	41574331	41574331	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggaataggccctggaatgGccaaccataaccagttccag	10	12	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:41574331G>T	uc003azl.4	+	30	7011	c.6616G>T	c.(6616-6618)Gcc>Tcc	p.A2206S		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	2206	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCCTGGAATGGCCAACCATAA	0.527			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				T	41574331	G	T	41574331	3	4	4	1	0	0	0	0	1	0	0	0	5148	1203	42	5	6738	5	EP300	22	41574331	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	85303	41574331	9730235	4450	6515											
RANGAP1	5905	broad.mit.edu	37	chr22	41648913	41648913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagctcttgggccctaggCgcagcagcttctctggagag	15	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:41648913C>T	uc003azs.3	-	10	2813	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	RANGAP1_uc003azt.3_Missense_Mutation_p.R448H|RANGAP1_uc003azu.3_Missense_Mutation_p.R448H|RANGAP1_uc011aoz.2_Missense_Mutation_p.R393H	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	448					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCCCTAGGCGCAGCAGCTT	0.607													T	41648913	C	T	41648913	3	4	4	1	0	0	0	0	1	0	0	0	13033	768	27	1	440	1	RANGAP1	22	41648913	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	74582	41648913	9655653	4451	6516											
RANGAP1	5905	broad.mit.edu	37	chr22	41676993	41676993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaactcagctgtcccccgGccacctgagtcttggcaagt	10	14	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:41676993G>A	uc003azs.3	-	0	1526	c.56C>T	c.(55-57)gCc>gTc	p.A19V	RANGAP1_uc003azt.3_Missense_Mutation_p.A19V|RANGAP1_uc003azu.3_Missense_Mutation_p.A19V|RANGAP1_uc011aoz.2_5'Flank	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	19					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGTCCCCCGGCCACCTGAGT	0.557													A	41676993	G	A	41676993	3	1	4	1	0	0	0	0	1	0	0	0	13033	1203	42	2	1767	2	RANGAP1	22	41676993	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	28080	41676993	9627573	4452	6517											
PHF5A	84844	broad.mit.edu	37	chr22	41863526	41863526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccacagatcacacagcGcccctggtaagatccatagt	7	15	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:41863526G>A	uc003bab.3	-	2	220	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	ACO2_uc003bac.3_5'Flank	NM_032758	NP_116147	Q7RTV0	PHF5A_HUMAN	Homo sapiens PHD finger protein 5A (PHF5A), mRNA.	57					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	U12-type spliceosomal complex|U2 snRNP|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	p.R57S(2)		central_nervous_system(1)|large_intestine(2)|lung(1)	4						ATCACACAGCGCCCCTGGTAA	0.507													A	41863526	G	A	41863526	3	1	4	1	0	0	0	0	1	0	0	0	11837	1087	38	1	171	1	PHF5A	22	41863526	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	186533	41863526	9441040	4453	6518											
NAGA	4668	broad.mit.edu	37	chr22	42458950	42458950	+	Frame_Shift_Del	DEL	G	G	-													caggtctgtggacatcaagaGgggggctgccagcaccgtcc							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:42458949_42458949AG>A	uc003bbw.4	-	6	1384	c.839_839CT>T	c.(838-840)ctcfs	p.L280fs		NM_000262	NP_000253	P17050	NAGAB_HUMAN	Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA.	280					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-N-acetylgalactosaminidase activity|alpha-galactosidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GGACATCAAGAGGGGGGCTGC	0.562													-	42458950	G	-	42458950	7	5	4	1	0	1	0	1	0	0	0	0	10141	1000	35	0	409	0	NAGA	22	42458950	Frame_Shift_Del	DEL	G	TCGA-BR-4184-01A-01D-1126-08	595424	42458950	8845616	4454	6519											
TCF20	6942	broad.mit.edu	37	chr22	42609903	42609903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaaagtaacatgtgctggAcagtgttaggaagattggcc	13	6	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:42609903A>G	uc003bcj.1	-	0	1543	c.1409T>C	c.(1408-1410)gTc>gCc	p.V470A	TCF20_uc003bck.1_Missense_Mutation_p.V470A	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CATGTGCTGGACAGTGTTAGG	0.488													G	42609903	A	G	42609903	3	3	4	1	0	0	0	0	1	0	0	0	15687	275	10	3	4511	3	TCF20	22	42609903	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	150953	42609903	8694663	4455	6520											
TCF20	6942	broad.mit.edu	37	chr22	42610103	42610103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttctggaacccataggCacactgccttgcccacactg	8	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:42610103C>T	uc003bcj.1	-	0	1343	c.1209G>A	c.(1207-1209)gtG>gtA	p.V403V	TCF20_uc003bck.1_Silent_p.V403V	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AACCCATAGGCACACTGCCTT	0.502													T	42610103	C	T	42610103	2	4	4	1	0	0	0	0	0	0	0	1	15687	697	25	2		2	TCF20	22	42610103	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	200	42610103	8694463	4456	6521											
PACSIN2	11252	broad.mit.edu	37	chr22	43267373	43267373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgactcatcactggatcGcctccacataatttgccggg	8	16	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:43267373G>A	uc010gzg.3	-	10	1673	c.1451C>T	c.(1450-1452)gCg>gTg	p.A484V	PACSIN2_uc003bdg.4_Missense_Mutation_p.A484V|PACSIN2_uc003bdf.4_Missense_Mutation_p.A443V	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 2 (PACSIN2), transcript variant 2, mRNA.	484	SH3.				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				TCACTGGATCGCCTCCACATA	0.627													A	43267373	G	A	43267373	3	1	4	1	0	0	0	0	1	0	0	0	11375	1087	38	1	13	1	PACSIN2	22	43267373	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	657270	43267373	8037193	4457	6522											
TTLL1	25809	broad.mit.edu	37	chr22	43442572	43442572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacgtgagagacggggacGcattcacctgtgagatgaaa	15	7	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:43442572G>A	uc003bdi.3	-	9	1227	c.986C>T	c.(985-987)gCg>gTg	p.A329V	TTLL1_uc010gzh.3_Missense_Mutation_p.A300V|TTLL1_uc021wqt.1_Missense_Mutation_p.A291V|TTLL1_uc003bdj.3_Missense_Mutation_p.A215V	NM_012263	NP_036395	O95922	TTLL1_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 1 (TTLL1), transcript variant 1, mRNA.	329	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		AGACGGGGACGCATTCACCTG	0.507													A	43442572	G	A	43442572	3	1	4	1	0	0	0	0	1	0	0	0	16719	1087	38	1	293	1	TTLL1	22	43442572	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	175199	43442572	7861994	4458	6523											
SCUBE1	80274	broad.mit.edu	37	chr22	43634953	43634953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctccgttattgactgcGcacgtctctggggagggaaa	13	11	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:43634953G>A	uc003bdt.2	-	6	862	c.735C>T	c.(733-735)tgC>tgT	p.C245C	SCUBE1_uc003bdu.2_Silent_p.C275C	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	245	EGF-like 5 (Potential).|EGF-like 6 (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	p.T244M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TATTGACTGCGCACGTCTCTG	0.577													A	43634953	G	A	43634953	2	1	4	1	0	0	0	0	0	0	0	1	13944	1079	38	1		1	SCUBE1	22	43634953	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	192381	43634953	7669613	4459	6524											
PARVB	29780	broad.mit.edu	37	chr22	44543773	44543773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgacacgctgttcgaccacGccccggataagctcagcgtg	11	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:44543773G>A	uc003bem.3	+	9	974	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	PARVB_uc003ben.3_Missense_Mutation_p.A249T|PARVB_uc010gzn.3_Missense_Mutation_p.A197T|PARVB_uc003beo.3_Missense_Mutation_p.A212T|TRNA_SeC_uc021wqz.1_5'Flank	NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	Homo sapiens parvin, beta (PARVB), transcript variant 1, mRNA.	249	CH 2.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GTTCGACCACGCCCCGGATAA	0.582													A	44543773	G	A	44543773	3	1	4	1	0	0	0	0	1	0	0	0	11469	1087	38	1	998	1	PARVB	22	44543773	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	908820	44543773	6760793	4460	6525											
PHF21B	112885	broad.mit.edu	37	chr22	45279115	45279115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcagtctcaggagggcccGcaggcggtccagggatgact	15	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:45279115G>A	uc003bfn.3	-	12	1598	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W	PHF21B_uc011aqk.2_Missense_Mutation_p.R429W|PHF21B_uc003bfm.3_Missense_Mutation_p.R279W|PHF21B_uc011aql.2_Missense_Mutation_p.R441W	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	483							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		AGGAGGGCCCGCAGGCGGTCC	0.652													A	45279115	G	A	45279115	3	1	4	1	0	0	0	0	1	0	0	0	11834	1086	38	1	152	1	PHF21B	22	45279115	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	735342	45279115	6025451	4461	6526											
FAM118A	55007	broad.mit.edu	37	chr22	45726536	45726536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgtcctccacattcacgGcctctacacggacccctgcg	9	19	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:45726536G>A	uc003bfz.4	+	5	1191	c.575G>A	c.(574-576)gGc>gAc	p.G192D	FAM118A_uc003bga.4_Missense_Mutation_p.G192D|FAM118A_uc011aqr.2_Missense_Mutation_p.G10D	NM_001104595	NP_060381	Q9NWS6	F118A_HUMAN	Homo sapiens family with sequence similarity 118, member A (FAM118A), transcript variant 1, mRNA.	192						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CACATTCACGGCCTCTACACG	0.527													A	45726536	G	A	45726536	3	1	4	1	0	0	0	0	1	0	0	0	5411	1203	42	2	589	2	FAM118A	22	45726536	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	447421	45726536	5578030	4462	6527											
RIBC2	26150	broad.mit.edu	37	chr22	45813802	45813802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaaagggaatggaagaacGcccgtgctgaacaaaaatgc	12	8	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:45813802G>A	uc011aqs.2	+	3	723	c.514G>A	c.(514-516)Gcc>Acc	p.A172T		NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN	Homo sapiens RIB43A domain with coiled-coils 2 (RIBC2), mRNA.	105										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATGGAAGAACGCCCGTGCTGA	0.413													A	45813802	G	A	45813802	3	1	4	1	0	0	0	0	1	0	0	0	13353	1087	38	1	526	1	RIBC2	22	45813802	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	87266	45813802	5490764	4463	6528											
FBLN1	2192	broad.mit.edu	37	chr22	45938087	45938087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggaagggacatcgctgCgtgaactctcccggcagttt	14	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:45938087C>T	uc010gzz.3	+	10	1380	c.1233C>T	c.(1231-1233)tgC>tgT	p.C411C	FBLN1_uc003bgg.1_Silent_p.C373C|FBLN1_uc003bgh.3_Silent_p.C373C|FBLN1_uc003bgi.1_Silent_p.C373C|FBLN1_uc003bgj.1_Silent_p.C373C	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	373	EGF-like 6; calcium-binding.|Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GACATCGCTGCGTGAACTCTC	0.567													T	45938087	C	T	45938087	2	4	4	1	0	0	0	0	0	0	0	1	5698	776	27	1		1	FBLN1	22	45938087	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	124285	45938087	5366479	4464	6529											
PKDREJ	10343	broad.mit.edu	37	chr22	46655302	46655302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacttaaataccagctaggCgatcgaccctcgttgttgtg	9	11	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:46655302C>T	uc003bhh.3	-	0	3918	c.3918G>A	c.(3916-3918)tcG>tcA	p.S1306S		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1306	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ACCAGCTAGGCGATCGACCCT	0.458													T	46655302	C	T	46655302	2	4	4	1	0	0	0	0	0	0	0	1	11970	755	27	1		1	PKDREJ	22	46655302	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	717215	46655302	4649264	4465	6530											
GTSE1	51512	broad.mit.edu	37	chr22	46712231	46712231	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactagaagtatcagacggCgagattcctgtctaaattcc	9	9	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:46712231C>T	uc011aqy.2	+	6	1566	c.1354C>T	c.(1354-1356)Cga>Tga	p.R452*	GTSE1_uc011aqz.2_Nonsense_Mutation_p.R299*|GTSE1_uc003bhl.1_Nonsense_Mutation_p.R77*|GTSE1_uc003bhm.1_Nonsense_Mutation_p.R77*	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	433					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TATCAGACGGCGAGATTCCTG	0.418													T	46712231	C	T	46712231	4	4	4	1	0	0	0	0	0	1	0	0	6885	760	27	1	1376	1	GTSE1	22	46712231	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	56929	46712231	4592335	4466	6531											
GRAMD4	23151	broad.mit.edu	37	chr22	47070572	47070572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtgcgagaatggctggcGctgctgcctcatcaacaggg	15	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:47070572G>A	uc003bhx.3	+	14	1452	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	GRAMD4_uc010had.3_Missense_Mutation_p.R407H|GRAMD4_uc003bhy.3_5'UTR	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	Homo sapiens GRAM domain containing 4 (GRAMD4), mRNA.	468	GRAM.				apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AATGGCTGGCGCTGCTGCCTC	0.617													A	47070572	G	A	47070572	3	1	4	1	0	0	0	0	1	0	0	0	6752	1087	38	1	1461	1	GRAMD4	22	47070572	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	358341	47070572	4233994	4467	6532											
GRAMD4	23151	broad.mit.edu	37	chr22	47070595	47070595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcctcatcaacagggacCggaagatgcccacggactac	11	14	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:47070595C>T	uc003bhx.3	+	14	1475	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W	GRAMD4_uc010had.3_Missense_Mutation_p.R415W|GRAMD4_uc003bhy.3_5'UTR	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	Homo sapiens GRAM domain containing 4 (GRAMD4), mRNA.	476	GRAM.				apoptosis	integral to membrane|mitochondrial membrane		p.D475D(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CAACAGGGACCGGAAGATGCC	0.627													T	47070595	C	T	47070595	3	4	4	1	0	0	0	0	1	0	0	0	6752	643	23	1	1484	1	GRAMD4	22	47070595	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	23	47070595	4233971	4468	6533											
TBC1D22A	25771	broad.mit.edu	37	chr22	47290699	47290699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccacatagacatccctcGcatgagccctgaagcgttga	9	13	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:47290699G>A	uc003bib.3	+	6	1023	c.857G>A	c.(856-858)cGc>cAc	p.R286H	TBC1D22A_uc010haf.3_Missense_Mutation_p.R256H|TBC1D22A_uc003bie.3_Missense_Mutation_p.R208H|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Missense_Mutation_p.R239H	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	286	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GACATCCCTCGCATGAGCCCT	0.502													A	47290699	G	A	47290699	3	1	4	1	0	0	0	0	1	0	0	0	15608	1087	38	1	883	1	TBC1D22A	22	47290699	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	220104	47290699	4013867	4469	6534											
TBC1D22A	25771	broad.mit.edu	37	chr22	47569246	47569246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagtttgcttttgccgacGcccccaatcactacaagaaa	6	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:47569246G>A	uc003bib.3	+	12	1697	c.1531G>A	c.(1531-1533)Gcc>Acc	p.A511T	TBC1D22A_uc010haf.3_Missense_Mutation_p.A481T|TBC1D22A_uc003bie.3_Missense_Mutation_p.A433T|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Missense_Mutation_p.A464T	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	511						intracellular	Rab GTPase activator activity|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TTTTGCCGACGCCCCCAATCA	0.647													A	47569246	G	A	47569246	3	1	4	1	0	0	0	0	1	0	0	0	15608	1087	38	1	1581	1	TBC1D22A	22	47569246	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	278547	47569246	3735320	4470	6535											
FAM19A5	25817	broad.mit.edu	37	chr22	49103572	49103572	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtgacatgcttccgtgTctggagggggaaggctgcga	18	7	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:49103572T>C	uc003bim.4	+	2	423	c.306T>C	c.(304-306)tgT>tgC	p.C102C	FAM19A5_uc003bio.4_Silent_p.C95C	NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 (FAM19A5), transcript variant 1, mRNA.	102						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		TGCTTCCGTGTCTGGAGGGGG	0.572													C	49103572	T	C	49103572	2	2	4	1	0	0	0	0	0	0	0	1	5535	1673	58	3		3	FAM19A5	22	49103572	Silent	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1534326	49103572	2200994	4471	6536											
ZBED4	9889	broad.mit.edu	37	chr22	50277562	50277562	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagtgaggatgactatggCgcgctgttctcccagtacag	14	9	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:50277562C>T	uc003bix.2	+	1	722	c.252C>T	c.(250-252)ggC>ggT	p.G84G	ZBED4_uc021wrx.1_Silent_p.G84G	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	84						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	p.G84V(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ATGACTATGGCGCGCTGTTCT	0.622													T	50277562	C	T	50277562	2	4	4	1	0	0	0	0	0	0	0	1	17517	755	27	1		1	ZBED4	22	50277562	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1173990	50277562	1027004	4472	6537											
ALG12	79087	broad.mit.edu	37	chr22	50303555	50303555	+	Frame_Shift_Del	DEL	C	C	-													gacttacctaaacagaggatCcctgccgggacggcgtggcg					rs146322225	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:50303554_50303554TC>T	uc003biy.3	-	4	926	c.652_652GA>A	c.(652-654)atcfs	p.I218fs		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.	218					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		AAACAGAGGATCCCTGCCGGG	0.527													-	50303555	C	-	50303555	7	5	4	1	0	1	0	1	0	0	0	0	514	842	30	0	839	0	ALG12	22	50303555	Frame_Shift_Del	DEL	C	TCGA-BR-4184-01A-01D-1126-08	25993	50303555	1001011	4473	6538											
TRABD	80305	broad.mit.edu	37	chr22	50636522	50636522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccgagcccaggaagtgcgTcccctccgtggtcgtgggcg	16	14	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:50636522T>C	uc003bjs.1	+	8	968	c.863T>C	c.(862-864)gTc>gCc	p.V288A	TRABD_uc003bjr.2_Missense_Mutation_p.V172A|SELO_uc021wry.1_5'Flank	NM_025204	NP_079480	Q9H4I3	TRABD_HUMAN	Homo sapiens TraB domain containing (TRABD), mRNA.	288										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		AGGAAGTGCGTCCCCTCCGTG	0.667													C	50636522	T	C	50636522	3	2	4	1	0	0	0	0	1	0	0	0	16432	1667	58	3	893	3	TRABD	22	50636522	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	332967	50636522	668044	4474	6539											
SELO	83642	broad.mit.edu	37	chr22	50647109	50647109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaggctgctcatgccagCgacagcgtgcagagaaatgc	12	12	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:50647109C>T	uc021wry.1	+	2	961	c.903C>T	c.(901-903)agC>agT	p.S301S	SELO_uc010hap.3_Silent_p.S112S|SELO_uc003bjy.3_5'UTR	NM_031454		Q9BVL4	SELO_HUMAN	Homo sapiens selenoprotein O (SELO), mRNA.	301													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)		CTCATGCCAGCGACAGCGTGC	0.632													T	50647109	C	T	50647109	2	4	4	1	0	0	0	0	0	0	0	1	14018	767	27	1		1	SELO	22	50647109	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	10587	50647109	657457	4475	6540											
PLXNB2	23654	broad.mit.edu	37	chr22	50728515	50728515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctttgcccacaaacagcaCgcggtcaccaccaggacccg	9	18	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:50728515C>T	uc003bkv.4	-	2	592	c.499G>A	c.(499-501)Gtg>Atg	p.V167M		NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	167	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACAAACAGCACGCGGTCACCA	0.622													T	50728515	C	T	50728515	3	4	4	1	0	0	0	0	1	0	0	0	12124	536	19	1	5157	1	PLXNB2	22	50728515	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	81406	50728515	576051	4476	6541											
CSF2RA	1438	broad.mit.edu	37	chrX	1422885	1422885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggaacccttgtctgtgGcatcgtcctcggcttcctct	11	14	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:1422885G>A	uc010nct.2	+	11	1338	c.1016G>A	c.(1015-1017)gGc>gAc	p.G339D	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.G339D|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.G339D|CSF2RA_uc004cpo.2_Missense_Mutation_p.G339D|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.G206D|CSF2RA_uc004cpp.2_Intron|CSF2RA_uc010ncv.2_Missense_Mutation_p.G373D|CSF2RA_uc004cpr.2_Intron	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	339						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTTGTCTGTGGCATCGTCCTC	0.547													A	1422885	G	A	1422885	3	1	4	1	0	0	0	0	1	0	0	0	3934	1203	42	2	1156	2	CSF2RA	23	1422885	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08		1422885	153847675	4477	6542											
IL3RA	3563	broad.mit.edu	37	chrX	1471219	1471219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaccgcttaccgcagcaggCgtcaacagtacgagtgtctt	10	12	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:1471219C>T	uc004cps.3	+	5	785	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Missense_Mutation_p.R68C	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	146						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCGCAGCAGGCGTCAACAGTA	0.597													T	1471219	C	T	1471219	3	4	4	1	0	0	0	0	1	0	0	0	7695	768	27	1	454	1	IL3RA	23	1471219	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	48334	1471219	153799341	4478	6543											
SLC25A6	293	broad.mit.edu	37	chrX	1505554	1505554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggcgccccccatgccccGcaggacgttggaccacgcac	12	18	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:1505554G>A	uc004cpt.3	-	3	975	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	CRLF2_uc022brt.1_Intron	NM_001636	NP_001627	P12236	ADT3_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 (SLC25A6), nuclear gene encoding mitochondrial protein, mRNA.	280					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	p.R280L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CCCATGCCCCGCAGGACGTTG	0.607													A	1505554	G	A	1505554	3	1	4	1	0	0	0	0	1	0	0	0	14513	1086	38	1	62	1	SLC25A6	23	1505554	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	34335	1505554	153765006	4479	6544											
ZBED1	9189	broad.mit.edu	37	chrX	2408097	2408097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggacaggcagttgggggCgcccaggcccaggaagtggg	19	10	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:2408097C>T	uc022brx.1	-	0	664	c.664G>A	c.(664-666)Gcc>Acc	p.A222T	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.A222T|ZBED1_uc004cqg.2_Missense_Mutation_p.A222T|ZBED1_uc022brw.1_Missense_Mutation_p.A222T	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	222						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGTTGGGGGCGCCCAGGCCC	0.647													T	2408097	C	T	2408097	3	4	4	1	0	0	0	0	1	0	0	0	17514	768	27	1	1424	1	ZBED1	23	2408097	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	902543	2408097	152862463	4480	6545											
MXRA5	25878	broad.mit.edu	37	chrX	3240185	3240185	+	Frame_Shift_Del	DEL	A	A	-													tgcttgagttggttgagtagAaaaagtctctgatggggcaa							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:3240185delA	uc004crg.3	-	5	3698	c.3541delT	c.(3541-3543)TCTfs	p.S1181fs		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1181						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTTGAGTAGAAAAAGTCTCT	0.488													-	3240185	A	-	3240185	7	5	4	1	0	1	0	1	0	0	0	0	10003	246	9	0	4957	0	MXRA5	23	3240185	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	832088	3240185	152030375	4481	6546											
FAM9A	171482	broad.mit.edu	37	chrX	8763306	8763307	+	In_Frame_Ins	INS	-	-	CTG													gtcttctactactattacttINSctgctgctgctgctgcggct							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:8763306_8763307insCTG	uc004csg.2	-	7	754_755	c.643_644insCAG	c.(643-645)GAA>GCAGAA	p.214_215insA		NM_174951	NP_777611	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	214_215	Glu-rich.					nucleolus					0		Hepatocellular(5;0.219)				TACTATTACTTctgctgctgct	0.074													CTG	8763307	-	CTG	8763306	7	5	4	1	0	1	1	0	0	0	0	0	5659	1783	62	0	366	0	FAM9A	23	8763306	In_Frame_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	5523121	8763306	146507254	4482	6547											
TBL1X	6907	broad.mit.edu	37	chrX	9656277	9656277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatcgaagaacagagaggCcacggtgaatggggaagaga	15	7	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:9656277C>T	uc004csr.3	+	6	1065	c.578C>T	c.(577-579)gCc>gTc	p.A193V	TBL1X_uc004csq.4_Missense_Mutation_p.A142V|TBL1X_uc010ndr.3_Missense_Mutation_p.A142V|TBL1X_uc010ndq.3_Missense_Mutation_p.A193V|TBL1X_uc004css.3_Missense_Mutation_p.A144V	NM_005647	NP_001132940	O60907	TBL1X_HUMAN	Homo sapiens transducin (beta)-like 1X-linked (TBL1X), transcript variant 1, mRNA.	193					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				AACAGAGAGGCCACGGTGAAT	0.617													T	9656277	C	T	9656277	3	4	4	1	0	0	0	0	1	0	0	0	15636	739	26	2	592	2	TBL1X	23	9656277	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	892971	9656277	145614283	4483	6548											
WWC3	55841	broad.mit.edu	37	chrX	10085205	10085205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtcctcggggagcagccGcgggtccctagcctccagcc	15	16	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:10085205G>A	uc004csx.4	+	10	1304	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	WWC3_uc010nds.3_Missense_Mutation_p.R33H|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	369	Ser-rich.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GGGAGCAGCCGCGGGTCCCTA	0.662													A	10085205	G	A	10085205	3	1	4	1	0	0	0	0	1	0	0	0	17410	1087	38	1	1144	1	WWC3	23	10085205	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	428928	10085205	145185355	4484	6549											
WWC3	55841	broad.mit.edu	37	chrX	10092342	10092342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgcctacggagacacgGccagtaacggagatccccag	12	14	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:10092342G>A	uc004csx.4	+	12	1987	c.1789G>A	c.(1789-1791)Gcc>Acc	p.A597T	WWC3_uc010nds.3_Missense_Mutation_p.A261T|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	597										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CGGAGACACGGCCAGTAACGG	0.597													A	10092342	G	A	10092342	3	1	4	1	0	0	0	0	1	0	0	0	17410	1203	42	2	1835	2	WWC3	23	10092342	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	7137	10092342	145178218	4485	6550											
MID1	4281	broad.mit.edu	37	chrX	10535114	10535114	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggctcaatcagacgatgGcctgtaaagggcttcttatt	10	8	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:10535114G>A	uc004cte.4	-	1	664	c.474C>T	c.(472-474)ggC>ggT	p.G158G	MID1_uc004ctd.4_5'Flank|MID1_uc004ctg.4_Silent_p.G158G|MID1_uc004cth.4_Silent_p.G158G|MID1_uc004ctk.4_Silent_p.G158G|MID1_uc004ctj.4_Silent_p.G158G|MID1_uc004cti.4_Silent_p.G158G|MID1_uc011mie.1_Non-coding_Transcript|MID1_uc004ctm.2_Silent_p.G158G|MID1_uc004ctn.2_Silent_p.G158G|MID1_uc004cto.2_Silent_p.G158G|MID1_uc010ndw.1_5'Flank|MID1_uc004cts.1_5'Flank|MID1_uc004ctt.3_Silent_p.G158G|MID1_uc004ctu.3_Silent_p.G158G|MID1_uc004ctv.3_Silent_p.G158G|MID1_uc004ctw.3_Silent_p.G158G|MID1_uc010ndy.2_Silent_p.G158G|MID1_uc010ndz.1_5'Flank|MID1_uc004cty.3_Silent_p.G158G|MID1_uc004ctz.1_5'Flank|MID1_uc004cua.1_Non-coding_Transcript|MID1_uc004cub.1_Silent_p.G158G|MID1_uc004cuc.1_Silent_p.G158G|MID1_uc004cud.1_Silent_p.G158G|MID1_uc004cue.1_Silent_p.G158G|MID1_uc004cuf.1_Silent_p.G158G|MID1_uc004cug.1_Silent_p.G158G	NM_001193277	NP_150632	O15344	TRI18_HUMAN	Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 2, mRNA.	158					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCAGACGATGGCCTGTAAAGG	0.522													A	10535114	G	A	10535114	2	1	4	1	0	0	0	0	0	0	0	1	9576	1190	42	2		2	MID1	23	10535114	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	442772	10535114	144735446	4486	6551											
FRMPD4	9758	broad.mit.edu	37	chrX	12712493	12712493	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccataagatgagatgtcttTtccgaattagcttcgtccca	7	11	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:12712493T>C	uc004cuz.2	+	8	1359	c.853T>C	c.(853-855)Ttc>Ctc	p.F285L	FRMPD4_uc011mij.2_Missense_Mutation_p.F277L	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	285	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAGATGTCTTTTCCGAATTAG	0.438													C	12712493	T	C	12712493	3	2	4	1	0	0	0	0	1	0	0	0	6059	1841	64	3	887	3	FRMPD4	23	12712493	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	2177379	12712493	142558067	4487	6552											
FRMPD4	9758	broad.mit.edu	37	chrX	12736508	12736508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggctgatgagagtgtggCccgcctttgtgactaccact	13	10	0	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:12736508C>T	uc004cuz.2	+	15	4069	c.3563C>T	c.(3562-3564)gCc>gTc	p.A1188V	FRMPD4_uc011mij.2_Missense_Mutation_p.A1180V	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	1188					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAGAGTGTGGCCCGCCTTTGT	0.552													T	12736508	C	T	12736508	3	4	4	1	0	0	0	0	1	0	0	0	6059	739	26	2	3625	2	FRMPD4	23	12736508	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	24015	12736508	142534052	4488	6553											
TLR7	51284	broad.mit.edu	37	chrX	12905875	12905875	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaagatgccttccagttgCgatatctggatctcagctca	8	11	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:12905875C>T	uc004cvc.3	+	2	2387	c.2248C>T	c.(2248-2250)Cga>Tga	p.R750*		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	750					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CTTCCAGTTGCGATATCTGGA	0.383													T	12905875	C	T	12905875	4	4	4	1	0	0	0	0	0	1	0	0	15953	760	27	1	2254	1	TLR7	23	12905875	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	169367	12905875	142364685	4489	6554											
OFD1	8481	broad.mit.edu	37	chrX	13786260	13786260	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgagtaatcaagaaataaaaGacaaatctgctcacagtgaa	7	6	3	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:13786260G>A	uc004cvp.4	+	20	3204	c.2845G>A	c.(2845-2847)Gac>Aac	p.D949N	OFD1_uc004cvr.4_Missense_Mutation_p.D479N|OFD1_uc011mil.2_Missense_Mutation_p.D516N|OFD1_uc004cvq.4_Missense_Mutation_p.D772N|OFD1_uc010nen.3_Missense_Mutation_p.D947N|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Missense_Mutation_p.D908N|OFD1_uc004cvv.4_Missense_Mutation_p.D907N	NM_003611	NP_003602	O75665	OFD1_HUMAN	Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.	949	Mediates the interaction with SDCCAG8.				G2/M transition of mitotic cell cycle|cilium movement involved in determination of left/right asymmetry	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGAAATAAAAGACAAATCTGC	0.358													A	13786260	G	A	13786260	3	1	4	1	0	0	0	0	1	0	0	0	10838	942	33	4	2927	4	OFD1	23	13786260	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	880385	13786260	141484300	4490	6555											
CA5B	11238	broad.mit.edu	37	chrX	15790676	15790676	+	Frame_Shift_Del	DEL	G	G	-													gaagcagttccattttcactGgggggccatcgatgcctggg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:15790676delG	uc004cxe.2	+	4	515	c.398delG	c.(397-399)TGGfs	p.W133fs		NM_007220	NP_009151	Q9Y2D0	CAH5B_HUMAN	carbonic anhydrase VB, mitochondrial precursor	133					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding				0	Hepatocellular(33;0.183)					CATTTTCACTGGGGGGCCATC	0.498													-	15790676	G	-	15790676	7	5	4	1	0	1	0	1	0	0	0	0	2520	1357	47	0	408	0	CA5B	23	15790676	Frame_Shift_Del	DEL	G	TCGA-BR-4184-01A-01D-1126-08	2004416	15790676	139479884	4491	6556											
TXLNG	55787	broad.mit.edu	37	chrX	16838287	16838287	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cttttcttgttaaccatcagGaaaagaagttttattactga	6	6	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:16838287G>T	uc004cxq.2	+	3	463	c.407_splice	c.e3-1	p.G136_splice	TXLNG_uc010ney.2_Intron	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	Homo sapiens taxilin gamma (TXLNG), transcript variant 1, mRNA.	136					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						TAACCATCAGGAAAAGAAGTT	0.388													T	16838287	G	T	16838287	5	4	4	1	0	0	0	0	0	0	1	0	16786	1188	41	5	417	5	TXLNG	23	16838287	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1047611	16838287	138432273	4492	6557											
NHS	4810	broad.mit.edu	37	chrX	17746817	17746817	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcaccacttagtgaagactCccaagctgaagcagagggtg	11	10	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:17746817C>A	uc011mix.2	+	7	4609	c.4271C>A	c.(4270-4272)tCc>tAc	p.S1424Y	NHS_uc004cxx.3_Missense_Mutation_p.S1403Y|NHS_uc004cxy.3_Missense_Mutation_p.S1247Y|NHS_uc004cxz.3_Missense_Mutation_p.S1226Y|NHS_uc004cya.3_Missense_Mutation_p.S1126Y	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	1403						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGTGAAGACTCCCAAGCTGAA	0.433													A	17746817	C	A	17746817	3	1	4	1	0	0	0	0	1	0	0	0	10411	855	30	5	4339	5	NHS	23	17746817	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	908530	17746817	137523743	4493	6558											
SCML2	10389	broad.mit.edu	37	chrX	18278348	18278348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctttatataacatgccacGgtctctggtcagcgatttta	7	9	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:18278348G>A	uc004cyl.2	-	8	1169	c.1012C>T	c.(1012-1014)Cgt>Tgt	p.R338C	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.R338C|SCML2_uc011miz.1_Missense_Mutation_p.R272C|SCML2_uc010nfc.2_Missense_Mutation_p.R74C	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	338					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					AACATGCCACGGTCTCTGGTC	0.338													A	18278348	G	A	18278348	3	1	4	1	0	0	0	0	1	0	0	0	13910	1116	39	1	1118	1	SCML2	23	18278348	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	531531	18278348	136992212	4494	6559											
CDKL5	6792	broad.mit.edu	37	chrX	18668576	18668576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagcctcacactccgtgCgtcccaaaccgagcccttca	7	17	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:18668576C>T	uc004cym.3	+	19	3097	c.2844C>T	c.(2842-2844)tgC>tgT	p.C948C	CDKL5_uc004cyn.3_Silent_p.C948C|RS1_uc004cyo.3_Intron	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	948					neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					ACACTCCGTGCGTCCCAAACC	0.577													T	18668576	C	T	18668576	2	4	4	1	0	0	0	0	0	0	0	1	3157	776	27	1		1	CDKL5	23	18668576	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	390228	18668576	136601984	4495	6560											
PPEF1	5475	broad.mit.edu	37	chrX	18824564	18824564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taattattatgaagaaggcaGcaatcgaggagcttacatca	9	6	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:18824564G>A	uc004cyq.3	+	14	1776	c.1295G>A	c.(1294-1296)aGc>aAc	p.S432N	PPEF1_uc004cyp.3_Missense_Mutation_p.S404N|PPEF1_uc004cyr.3_Missense_Mutation_p.S370N|PPEF1_uc004cys.3_Missense_Mutation_p.S432N|PPEF1_uc011mja.2_Missense_Mutation_p.S367N|PPEF1_uc011mjb.2_Missense_Mutation_p.S376N	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	432	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					GAAGAAGGCAGCAATCGAGGA	0.403													A	18824564	G	A	18824564	3	1	4	1	0	0	0	0	1	0	0	0	12307	971	34	2	1341	2	PPEF1	23	18824564	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	155988	18824564	136445996	4496	6561											
PHKA2	5256	broad.mit.edu	37	chrX	18927018	18927018	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagtccacgtcaccatggTcatctctgggccactgaaag	9	14	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:18927018T>C	uc004cyv.4	-	20	2691	c.2261A>G	c.(2260-2262)gAc>gGc	p.D754G		NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	754					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GTCACCATGGTCATCTCTGGG	0.463													C	18927018	T	C	18927018	3	2	4	1	0	0	0	0	1	0	0	0	11844	1667	58	3	1498	3	PHKA2	23	18927018	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	102454	18927018	136343542	4497	6562											
PDHA1	5160	broad.mit.edu	37	chrX	19372612	19372612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtccttaatgttaggtgCccctgggcgctgggattgct	14	9	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:19372612C>T	uc004czg.4	+	5	659	c.514C>T	c.(514-516)Ccc>Tcc	p.P172S	PDHA1_uc004czh.4_Missense_Mutation_p.P210S|PDHA1_uc011mjc.2_Missense_Mutation_p.P179S|PDHA1_uc011mjd.2_Intron|PDHA1_uc010nfl.3_5'Flank	NM_000284	NP_000275	P08559	ODPA_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	172					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	ATGTTAGGTGCCCCTGGGCGC	0.468													T	19372612	C	T	19372612	3	4	4	1	0	0	0	0	1	0	0	0	11664	739	26	2	675	2	PDHA1	23	19372612	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	445594	19372612	135897948	4498	6563											
SH3KBP1	30011	broad.mit.edu	37	chrX	19560086	19560086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgatgctcctcagctcgcGgacctgtgtccttagctcct	10	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:19560086G>A	uc004czm.3	-	15	2165	c.1849C>T	c.(1849-1851)Cgc>Tgc	p.R617C	SH3KBP1_uc011mje.2_Missense_Mutation_p.R356C|SH3KBP1_uc011mjf.2_Missense_Mutation_p.R379C|SH3KBP1_uc004czl.3_Missense_Mutation_p.R580C|SH3KBP1_uc010nfm.3_Missense_Mutation_p.R62C	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	617					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CTCAGCTCGCGGACCTGTGTC	0.632													A	19560086	G	A	19560086	3	1	4	1	0	0	0	0	1	0	0	0	14255	1116	39	1	160	1	SH3KBP1	23	19560086	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	187474	19560086	135710474	4499	6564											
SH3KBP1	30011	broad.mit.edu	37	chrX	19649997	19649997	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttaccttattgatgagagtGactatatctccttctttgat	6	7	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:19649997G>A	uc004czm.3	-	7	1198	c.882C>T	c.(880-882)gtC>gtT	p.V294V	SH3KBP1_uc011mje.2_Silent_p.V33V|SH3KBP1_uc011mjf.2_Silent_p.V56V|SH3KBP1_uc004czl.3_Silent_p.V257V	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	294	SH3 3.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TGATGAGAGTGACTATATCTC	0.378													A	19649997	G	A	19649997	2	1	4	1	0	0	0	0	0	0	0	1	14255	1277	45	4		4	SH3KBP1	23	19649997	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	89911	19649997	135620563	4500	6565											
PTCHD1	139411	broad.mit.edu	37	chrX	23397938	23397938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgggcaccagcttgggggCgtcactgtgcacagcaaaga	14	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:23397938C>T	uc004dal.4	+	1	590	c.582C>T	c.(580-582)ggC>ggT	p.G194G	PTCHD1_uc010nfu.2_Silent_p.G194G	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	194					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AGCTTGGGGGCGTCACTGTGC	0.527													T	23397938	C	T	23397938	2	4	4	1	0	0	0	0	0	0	0	1	12732	755	27	1		1	PTCHD1	23	23397938	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3747941	23397938	131872622	4501	6566											
PDK3	5165	broad.mit.edu	37	chrX	24552101	24552101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaataagtccgcatggcGccattacaagaccacgcctg	8	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:24552101G>A	uc004dbg.3	+	10	1362	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	PDK3_uc004dbh.3_Missense_Mutation_p.R378H	NM_005391	NP_005382	Q15120	PDK3_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	378					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCCGCATGGCGCCATTACAAG	0.428													A	24552101	G	A	24552101	3	1	4	1	0	0	0	0	1	0	0	0	11677	1087	38	1	1175	1	PDK3	23	24552101	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1154163	24552101	130718459	4502	6567											
PCYT1B	9468	broad.mit.edu	37	chrX	24608151	24608151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagaagtaccttgtgtttttCcagaaactctggcgtgagtg	12	7	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:24608151C>T	uc004dbi.3	-	3	708	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	PCYT1B_uc004dbk.4_Missense_Mutation_p.E159K|PCYT1B_uc004dbj.3_Missense_Mutation_p.E141K	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA.	159	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TTGTGTTTTTCCAGAAACTCT	0.483													T	24608151	C	T	24608151	3	4	4	1	0	0	0	0	1	0	0	0	11611	864	30	4	691	4	PCYT1B	23	24608151	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	56050	24608151	130662409	4503	6568											
PCYT1B	9468	broad.mit.edu	37	chrX	24690692	24690692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtattcacattaccttgcGccacaattggggagcgcgat	10	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:24690692G>A	uc004dbj.3	-	0	288	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C		NM_001163264	NP_001156736	Q9Y5K3	PCY1B_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 2, mRNA.	38						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	p.S19F(1)		breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	ATTACCTTGCGCCACAATTGG	0.413													A	24690692	G	A	24690692	3	1	4	1	0	0	0	0	1	0	0	0	11611	1087	38	1	1187	1	PCYT1B	23	24690692	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	82541	24690692	130579868	4504	6569											
DCAF8L1	139425	broad.mit.edu	37	chrX	27997832	27997832	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcggttgtcaaacgagtcCgtatagttcaagttgtcttc	10	8	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:27997832C>T	uc004dbx.1	-	0	1735	c.1620G>A	c.(1618-1620)acG>acA	p.T540T		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	540								p.T540T(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CAAACGAGTCCGTATAGTTCA	0.488													T	27997832	C	T	27997832	2	4	4	1	0	0	0	0	0	0	0	1	4277	639	23	1		1	DCAF8L1	23	27997832	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3307140	27997832	127272728	4505	6570											
TAB3	257397	broad.mit.edu	37	chrX	30872570	30872570	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggagaacttgaaggtggCgtggtggctgtgtacagtga	18	4	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:30872570C>T	uc004dcj.3	-	5	1875	c.1212G>A	c.(1210-1212)acG>acA	p.T404T	TAB3_uc004dck.3_Silent_p.T404T|TAB3_uc010ngl.3_Silent_p.T404T	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 3 (TAB3), mRNA.	404	Pro-rich.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TTGAAGGTGGCGTGGTGGCTG	0.433													T	30872570	C	T	30872570	2	4	4	1	0	0	0	0	0	0	0	1	15494	755	27	1		1	TAB3	23	30872570	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2874738	30872570	124397990	4506	6571											
TAB3	257397	broad.mit.edu	37	chrX	30877628	30877628	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatgcactgagacaccacGccctctggaatttcagggaa	9	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:30877628G>A	uc004dcj.3	-	4	741	c.78C>T	c.(76-78)ggC>ggT	p.G26G	TAB3_uc004dck.3_Silent_p.G26G|TAB3_uc010ngl.3_Silent_p.G26G	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 3 (TAB3), mRNA.	26	CUE.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	p.G26G(2)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GAGACACCACGCCCTCTGGAA	0.448													A	30877628	G	A	30877628	2	1	4	1	0	0	0	0	0	0	0	1	15494	1074	38	1		1	TAB3	23	30877628	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	5058	30877628	124392932	4507	6572											
DMD	1756	broad.mit.edu	37	chrX	31227807	31227808	+	Frame_Shift_Del	DEL	AA	AA	-													cacatgcagctgacaggctcAagagatccactgcaaaaaac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:31227807_31227808delAA	uc004dda.1	-	65	9614_9615	c.9370_9371delTT	c.(9370-9372)TTGfs	p.L3124fs	DMD_uc004dcq.1_Frame_Shift_Del_p.L395fs|DMD_uc004dcr.1_Frame_Shift_Del_p.L664fs|DMD_uc004dcs.1_Frame_Shift_Del_p.L664fs|DMD_uc004dct.1_Frame_Shift_Del_p.L664fs|DMD_uc004dcu.1_Frame_Shift_Del_p.L664fs|DMD_uc004dcv.1_Frame_Shift_Del_p.L664fs|DMD_uc004dcw.2_Frame_Shift_Del_p.L1780fs|DMD_uc004dcx.2_Frame_Shift_Del_p.L1783fs|DMD_uc004dcz.2_Frame_Shift_Del_p.L3001fs|DMD_uc004dcy.1_Frame_Shift_Del_p.L3120fs|DMD_uc004ddb.1_Frame_Shift_Del_p.L3116fs|DMD_uc004dcm.1_Frame_Shift_Del_p.L56fs|DMD_uc004dcn.1_Frame_Shift_Del_p.L56fs|DMD_uc004dco.1_Frame_Shift_Del_p.L56fs|DMD_uc004dcp.1_Frame_Shift_Del_p.L56fs|DMD_uc011mkb.1_Frame_Shift_Del_p.L56fs|DMD_uc010ngm.2_Frame_Shift_Del_p.L56fs	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3124	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGACAGGCTCAAGAGATCCACT	0.416													-	31227808	AA	-	31227807	7	5	4	1	0	1	0	1	0	0	0	0	4580	131	5	0	1836	0	DMD	23	31227807	Frame_Shift_Del	DEL	AA	TCGA-BR-4184-01A-01D-1126-08	350179	31227807	124042753	4508	6573											
FAM47C	442444	broad.mit.edu	37	chrX	37028757	37028757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagcctcttgagactcgCgtatctcatctccgcccgga	9	16	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:37028757C>T	uc004ddl.2	+	0	2326	c.2274C>T	c.(2272-2274)cgC>cgT	p.R758R		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	758								p.R758R(3)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TTGAGACTCGCGTATCTCATC	0.632													T	37028757	C	T	37028757	2	4	4	1	0	0	0	0	0	0	0	1	5571	755	27	1		1	FAM47C	23	37028757	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	5800950	37028757	118241803	4509	6574											
CYBB	1536	broad.mit.edu	37	chrX	37663265	37663265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccttttacactgacatccGcccctgaggaagacttcttt	6	14	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:37663265G>A	uc004ddr.2	+	8	1094	c.1033G>A	c.(1033-1035)Gcc>Acc	p.A345T	CYBB_uc011mke.1_Non-coding_Transcript|CYBB_uc011mkf.1_Missense_Mutation_p.A313T|CYBB_uc011mkg.1_Missense_Mutation_p.A78T	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	345	FAD-binding FR-type.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						ACTGACATCCGCCCCTGAGGA	0.483													A	37663265	G	A	37663265	3	1	4	1	0	0	0	0	1	0	0	0	4133	1087	38	1	1067	1	CYBB	23	37663265	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	634508	37663265	117607295	4510	6575											
MID1IP1	58526	broad.mit.edu	37	chrX	38664476	38664476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgtacagccactacgtgCttctcaagtccatccgcaac	6	15	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:38664476C>T	uc022buw.1	+	0	277	c.277C>T	c.(277-279)Ctt>Ttt	p.L93F	MID1IP1_uc004dei.4_Missense_Mutation_p.L93F|MID1IP1_uc010ngz.3_Missense_Mutation_p.L93F|MID1IP1_uc004dej.4_Missense_Mutation_p.L93F	NM_021242	NP_067065	Q9NPA3	M1IP1_HUMAN	Homo sapiens MID1 interacting protein 1 (gastrulation specific G12 homolog (zebrafish)) (MID1IP1), transcript variant 1, mRNA.	93					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						CCACTACGTGCTTCTCAAGTC	0.657													T	38664476	C	T	38664476	3	4	4	1	0	0	0	0	1	0	0	0	9577	797	28	2	279	2	MID1IP1	23	38664476	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1001211	38664476	116606084	4511	6576											
BCOR	54880	broad.mit.edu	37	chrX	39913265	39913265	+	Frame_Shift_Del	DEL	A	A	-													ctggtcctggggggttggctAaaacatcatagccactttca							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:39913265delA	uc004den.3	-	14	5142	c.4850delT	c.(4849-4851)TTAfs	p.L1617fs	BCOR_uc004dep.3_Frame_Shift_Del_p.L1583fs|BCOR_uc004deo.3_Frame_Shift_Del_p.L1565fs|BCOR_uc010nhb.2_Frame_Shift_Del_p.L325fs|BCOR_uc004dem.3_Frame_Shift_Del_p.L1583fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	1617					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						GGGGTTGGCTAAAACATCATA	0.438													-	39913265	A	-	39913265	7	5	4	1	0	1	0	1	0	0	0	0	1386	372	13	0	425	0	BCOR	23	39913265	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	1248789	39913265	115357295	4512	6577											
BCOR	54880	broad.mit.edu	37	chrX	39932705	39932705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatagagcttggtggaaggcCgttctcgtttgctttgaaac	12	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:39932705C>T	uc004den.4	-	3	2186	c.1894G>A	c.(1894-1896)Ggc>Agc	p.G632S	BCOR_uc004dep.4_Missense_Mutation_p.G632S|BCOR_uc004deo.4_Missense_Mutation_p.G632S|BCOR_uc004dem.4_Missense_Mutation_p.G632S|BCOR_uc004deq.4_Missense_Mutation_p.G632S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	632					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGTGGAAGGCCGTTCTCGTTT	0.587			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						T	39932705	C	T	39932705	3	4	4	1	0	0	0	0	1	0	0	0	1386	652	23	1	3421	1	BCOR	23	39932705	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	19440	39932705	115337855	4513	6578											
BCOR	54880	broad.mit.edu	37	chrX	39934127	39934127	+	Frame_Shift_Del	DEL	T	T	-													ttctgctgtggctacagcacTtttttgtattccaggcggtg							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:39934126_39934126CT>C	uc004den.4	-	3	765	c.473_473AG>G	c.(472-474)agtfs	p.S158fs	BCOR_uc004dep.4_Frame_Shift_Del_p.S158fs|BCOR_uc004deo.4_Frame_Shift_Del_p.S158fs|BCOR_uc004dem.4_Frame_Shift_Del_p.S158fs|BCOR_uc004deq.4_Frame_Shift_Del_p.S158fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	158					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGCTACAGCACTTTTTTGTAT	0.532			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						-	39934127	T	-	39934127	7	5	4	1	0	1	0	1	0	0	0	0	1386	1609	56	0	4843	0	BCOR	23	39934127	Frame_Shift_Del	DEL	T	TCGA-BR-4184-01A-01D-1126-08	1422	39934127	115336433	4514	6579											
DUSP21	63904	broad.mit.edu	37	chrX	44703683	44703683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatatgaggcagggccgtaCgctgctgcactgcatggctg	15	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:44703683C>T	uc004dgd.3	+	0	435	c.305C>T	c.(304-306)aCg>aTg	p.T102M		NM_022076	NP_071359	Q9H596	DUS21_HUMAN	Homo sapiens dual specificity phosphatase 21 (DUSP21), mRNA.	102	Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						CAGGGCCGTACGCTGCTGCAC	0.547													T	44703683	C	T	44703683	3	4	4	1	0	0	0	0	1	0	0	0	4820	536	19	1	307	1	DUSP21	23	44703683	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4769556	44703683	110566877	4515	6580											
ELK1	2002	broad.mit.edu	37	chrX	47500653	47500653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatagtagtaccgcaagGcccggctgagcttgtcgtaa	12	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:47500653G>A	uc004dik.4	-	2	510	c.188C>T	c.(187-189)gCc>gTc	p.A63V	ELK1_uc010nhv.3_Missense_Mutation_p.A63V|ELK1_uc010nhw.3_5'UTR|ELK1_uc004dil.4_Non-coding_Transcript	NM_001114123	NP_005220	P19419	ELK1_HUMAN	Homo sapiens ELK1, member of ETS oncogene family (ELK1), transcript variant 1, mRNA.	63					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						GTACCGCAAGGCCCGGCTGAG	0.502													A	47500653	G	A	47500653	3	1	4	1	0	0	0	0	1	0	0	0	5059	1203	42	2	1118	2	ELK1	23	47500653	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2796970	47500653	107769907	4516	6581											
ZNF630	57232	broad.mit.edu	37	chrX	47926265	47926265	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaataacttacctgggActcaatcattttctgtttct	4	9	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:47926265A>G	uc004div.4	-	1	262	c.10T>C	c.(10-12)Tcc>Ccc	p.S4P	ZNF630_uc010nhz.1_Non-coding_Transcript|ZNF630_uc022bvr.1_Missense_Mutation_p.S4P|ZNF630_uc022bvs.1_Missense_Mutation_p.S4P	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	Homo sapiens zinc finger protein 630 (ZNF630), transcript variant 1, mRNA.	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CTTACCTGGGACTCAATCATT	0.413													G	47926265	A	G	47926265	3	3	4	1	0	0	0	0	1	0	0	0	18051	275	10	3	1979	3	ZNF630	23	47926265	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	425612	47926265	107344295	4517	6582											
GRIPAP1	56850	broad.mit.edu	37	chrX	48832466	48832466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtaggtctcaatgatggCgctcttccggcagaggtcct	13	11	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:48832466C>T	uc004dly.1	-	23	2277	c.2242G>A	c.(2242-2244)Gcc>Acc	p.A748T		NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA.	748						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TCAATGATGGCGCTCTTCCGG	0.617													T	48832466	C	T	48832466	3	4	4	1	0	0	0	0	1	0	0	0	6789	768	27	1	295	1	GRIPAP1	23	48832466	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	906201	48832466	106438094	4518	6583											
WDR45	11152	broad.mit.edu	37	chrX	48933099	48933101	+	In_Frame_Del	DEL	AGG	AGG	-													atcactggaagcgcagaggaAggaggagtcgtggctgaagt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:48933099_48933101delAGG	uc004dmk.1	-	9	921_923	c.749_751delCCT	c.(748-753)TCCTTC>TTC	p.S250del	PRAF2_uc004dmh.2_5'Flank|PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_In_Frame_Del_p.S148del|WDR45_uc004dmj.1_In_Frame_Del_p.S211del|WDR45_uc004dml.1_In_Frame_Del_p.S251del|WDR45_uc004dmm.1_In_Frame_Del_p.S215del|WDR45_uc010nim.1_Intron|WDR45_uc004dmn.1_In_Frame_Del_p.S141del|WDR45_uc004dmo.1_In_Frame_Del_p.S273del|WDR45_uc004dmp.1_In_Frame_Del_p.S251del	NM_001029896	NP_001025067	Q9Y484	WIPI4_HUMAN	WD repeat domain 45 isoform 2	250	WD 3.				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			ovary(1)	1						GCGCAGAGGAAGGAGGAGTCGTG	0.562													-	48933101	AGG	-	48933099	7	5	4	1	0	1	0	1	0	0	0	0	17294	72	3	0	343	0	WDR45	23	48933099	In_Frame_Del	DEL	AGG	TCGA-BR-4184-01A-01D-1126-08	100633	48933099	106337461	4519	6584											
SHROOM4	57477	broad.mit.edu	37	chrX	50339874	50339874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggagaccatgccaaacaCcaacttctcccggcggtcca	10	16	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:50339874C>T	uc004dpe.2	-	8	4329	c.4303G>A	c.(4303-4305)Gtg>Atg	p.V1435M	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1435	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ATGCCAAACACCAACTTCTCC	0.547													T	50339874	C	T	50339874	3	4	4	1	0	0	0	0	1	0	0	0	14296	507	18	4	182	4	SHROOM4	23	50339874	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1406775	50339874	104930686	4520	6585											
BMP15	9210	broad.mit.edu	37	chrX	50659440	50659440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcaattcccccaatcacGccattattcagaaccttatc	3	15	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:50659440G>A	uc011mnw.2	+	1	1061	c.1012G>A	c.(1012-1014)Gcc>Acc	p.A338T		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	338					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CCCCAATCACGCCATTATTCA	0.478													A	50659440	G	A	50659440	3	1	4	1	0	0	0	0	1	0	0	0	1458	1087	38	1	1018	1	BMP15	23	50659440	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	319566	50659440	104611120	4521	6586											
GSPT2	23708	broad.mit.edu	37	chrX	51488078	51488078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgggaaagctggaatcCgggtccatttttaaaggcca	12	9	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:51488078C>T	uc004dpl.3	+	0	1598	c.1356C>T	c.(1354-1356)tcC>tcT	p.S452S		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	452					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					AGCTGGAATCCGGGTCCATTT	0.418													T	51488078	C	T	51488078	2	4	4	1	0	0	0	0	0	0	0	1	6827	639	23	1		1	GSPT2	23	51488078	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	828638	51488078	103782482	4522	6587											
KDM5C	8242	broad.mit.edu	37	chrX	53247024	53247024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcatagggataaacaatgCgttcgtagtgggagcgtagc	13	6	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:53247024C>T	uc004drz.3	-	3	1009	c.476G>A	c.(475-477)cGc>cAc	p.R159H	KDM5C_uc022bxe.1_Missense_Mutation_p.R92H|KDM5C_uc004dsa.3_Missense_Mutation_p.R159H	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	159	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ATAAACAATGCGTTCGTAGTG	0.537			"N, F, S"		clear cell renal carcinoma								T	53247024	C	T	53247024	3	4	4	1	0	0	0	0	1	0	0	0	8135	768	27	1	4396	1	KDM5C	23	53247024	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1758946	53247024	102023536	4523	6588											
IQSEC2	23096	broad.mit.edu	37	chrX	53280263	53280263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgttcctttgactcccGcttctccagctgggctgacc	9	15	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:53280263G>A	uc004dsd.3	-	4	1696	c.1495C>T	c.(1495-1497)Cgg>Tgg	p.R499W	IQSEC2_uc004dsc.3_Missense_Mutation_p.R294W|IQSEC2_uc022bxf.1_Missense_Mutation_p.R262W	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	Homo sapiens IQ motif and Sec7 domain 2 (IQSEC2), transcript variant 1, mRNA.	489					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TTTGACTCCCGCTTCTCCAGC	0.572													A	53280263	G	A	53280263	3	1	4	1	0	0	0	0	1	0	0	0	7818	1086	38	1	3015	1	IQSEC2	23	53280263	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	33239	53280263	101990297	4524	6589											
HUWE1	10075	broad.mit.edu	37	chrX	53569478	53569478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcctccctccggacagacGcctctgactggctagactcc	8	17	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:53569478G>A	uc004dsp.3	-	73	11804	c.11402C>T	c.(11401-11403)gCg>gTg	p.A3801V	HUWE1_uc004dsn.3_Missense_Mutation_p.A2609V|HUWE1_uc004dsq.1_Missense_Mutation_p.A101V	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3801					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCGGACAGACGCCTCTGACTG	0.517													A	53569478	G	A	53569478	3	1	4	1	0	0	0	0	1	0	0	0	7461	1087	38	1	1766	1	HUWE1	23	53569478	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	289215	53569478	101701082	4525	6590											
HUWE1	10075	broad.mit.edu	37	chrX	53641546	53641546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaattaaagctctgcatgGcctgtacttcctcttcctcc	6	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:53641546G>A	uc004dsp.3	-	22	2612	c.2210C>T	c.(2209-2211)gCc>gTc	p.A737V		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	737					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCTCTGCATGGCCTGTACTTC	0.478													A	53641546	G	A	53641546	3	1	4	1	0	0	0	0	1	0	0	0	7461	1203	42	2	11162	2	HUWE1	23	53641546	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	72068	53641546	101629014	4526	6591											
PHF8	23133	broad.mit.edu	37	chrX	54014219	54014219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtcttattatcagggtcGccttctcctttcccaatctc	6	13	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:54014219G>A	uc004dsu.3	-	14	2243	c.1997C>T	c.(1996-1998)gCg>gTg	p.A666V	PHF8_uc004dsv.3_Missense_Mutation_p.A496V|PHF8_uc004dst.3_Missense_Mutation_p.A630V|PHF8_uc004dsw.3_Missense_Mutation_p.A529V|PHF8_uc004dsx.3_Missense_Mutation_p.A394V|PHF8_uc004dsy.3_Missense_Mutation_p.A630V	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	666					G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TATCAGGGTCGCCTTCTCCTT	0.453													A	54014219	G	A	54014219	3	1	4	1	0	0	0	0	1	0	0	0	11840	1087	38	1	1387	1	PHF8	23	54014219	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	372673	54014219	101256341	4527	6592											
GNL3L	54552	broad.mit.edu	37	chrX	54584945	54584945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaacgcaatgtggaccaccGccctaagagcaacagtatgg	10	11	0	1	rs145061026		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:54584945G>A	uc022bxi.1	+	14	1779	c.1523G>A	c.(1522-1524)cGc>cAc	p.R508H	GNL3L_uc004dti.3_Non-coding_Transcript|GNL3L_uc004dth.2_Missense_Mutation_p.R508H	NM_001184819	NP_061940	Q9NVN8	GNL3L_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar)-like (GNL3L), transcript variant 1, mRNA.	508					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GTGGACCACCGCCCTAAGAGC	0.552													A	54584945	G	A	54584945	3	1	4	1	0	0	0	0	1	0	0	0	6538	1087	38	1	1577	1	GNL3L	23	54584945	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	570726	54584945	100685615	4528	6593											
TRO	7216	broad.mit.edu	37	chrX	54949812	54949812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctctaaatgtcactgacGcagctaccaggcagattgag	11	10	2	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:54949812G>A	uc004dtq.3	+	2	954	c.847G>A	c.(847-849)Gca>Aca	p.A283T	TRO_uc011moj.1_Missense_Mutation_p.A226T|TRO_uc004dts.3_Missense_Mutation_p.A283T|TRO_uc004dtr.3_Missense_Mutation_p.A283T|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Intron|TRO_uc004dtw.3_Intron|TRO_uc004dtx.3_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	283					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGTCACTGACGCAGCTACCAG	0.498													A	54949812	G	A	54949812	3	1	4	1	0	0	0	0	1	0	0	0	16571	1087	38	1	853	1	TRO	23	54949812	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	364867	54949812	100320748	4529	6594											
USP51	158880	broad.mit.edu	37	chrX	55514472	55514472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttcttttgtttctttggCaatctgttctatgtctttgt	6	6	5	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:55514472C>T	uc022bxu.1	-	0	901	c.901G>A	c.(901-903)Gcc>Acc	p.A301T	USP51_uc004dun.2_Missense_Mutation_p.A301T	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	Homo sapiens ubiquitin specific peptidase 51 (USP51), mRNA.	301					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GTTTCTTTGGCAATCTGTTCT	0.343													T	55514472	C	T	55514472	3	4	4	1	0	0	0	0	1	0	0	0	17080	710	25	2	1238	2	USP51	23	55514472	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	564660	55514472	99756088	4530	6595											
FAM123B	139285	broad.mit.edu	37	chrX	63412648	63412648	+	Frame_Shift_Del	DEL	A	A	-													cggtgacggcggatactgctAaaaaagccttttaggccttt							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:63412648delA	uc004dvo.2	-	2	792	c.519delT	c.(517-519)TTTfs	p.F173fs		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	173					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)|p.F173fs*36(2)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						GGATACTGCTAAAAAAGCCTT	0.562													-	63412648	A	-	63412648	7	5	4	1	0	1	0	1	0	0	0	0	5423	359	13	0	2892	0	FAM123B	23	63412648	Frame_Shift_Del	DEL	A	TCGA-BR-4184-01A-01D-1126-08	7898176	63412648	91857912	4531	6596											
AR	367	broad.mit.edu	37	chrX	66942787	66942787	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacatcctgctcaagacgCttctaccagctcaccaagct	5	18	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:66942787C>T	uc004dwu.2	+	6	3683	c.2568C>T	c.(2566-2568)cgC>cgT	p.R856R	AR_uc022byk.1_Intron|AR_uc004dwv.2_Silent_p.R324R	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	855	Interaction with MYST2.|Ligand-binding.		F -> L (in AIS).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.R856R(2)|p.R674R(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GCTCAAGACGCTTCTACCAGC	0.433									Androgen Insensitivity Syndrome				T	66942787	C	T	66942787	2	4	4	1	0	0	0	0	0	0	0	1	836	784	28	2		2	AR	23	66942787	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3530139	66942787	88327773	4532	6597											
PJA1	64219	broad.mit.edu	37	chrX	68382185	68382185	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgccaggccatccgagtgGccctcattgtcattggcggt	12	13	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:68382185G>A	uc022byl.1	-	0	897	c.897C>T	c.(895-897)ggC>ggT	p.G299G	PJA1_uc004dxg.3_Silent_p.G111G|PJA1_uc004dxh.3_Silent_p.G299G|PJA1_uc004dxi.3_Silent_p.G244G|PJA1_uc011mpi.2_Silent_p.G17G	NM_001032396	NP_001027568	Q8NG27	PJA1_HUMAN	Homo sapiens praja ring finger 1 (PJA1), transcript variant 2, mRNA.	299							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CATCCGAGTGGCCCTCATTGT	0.502													A	68382185	G	A	68382185	2	1	4	1	0	0	0	0	0	0	0	1	11961	1190	42	2		2	PJA1	23	68382185	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1439398	68382185	86888375	4533	6598											
KIF4A	24137	broad.mit.edu	37	chrX	69615826	69615826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattctcccttactgaagtgCgtggtcaagtttcggagtca	10	10	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:69615826C>T	uc004dyg.3	+	21	2559	c.2416C>T	c.(2416-2418)Cgt>Tgt	p.R806C	KIF4A_uc010nkw.3_Missense_Mutation_p.R806C	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	806	Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TACTGAAGTGCGTGGTCAAGT	0.398													T	69615826	C	T	69615826	3	4	4	1	0	0	0	0	1	0	0	0	8303	768	27	1	2498	1	KIF4A	23	69615826	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1233641	69615826	85654734	4534	6599											
DLG3	1741	broad.mit.edu	37	chrX	69722114	69722115	+	Frame_Shift_Del	DEL	CT	CT	-													gggtcccatcccctgaaaaaCtctgaagaatcccctccaac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:69722114_69722115delCT	uc004dyi.1	+	19	2777_2778	c.2449_2450delCT	c.(2449-2451)CTCfs	p.L817fs	DLG3_uc004dyj.1_Frame_Shift_Del_p.L512fs|DLG3_uc011mpn.1_Frame_Shift_Del_p.L365fs	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	817					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					CCCTGAAAAACTCTGAAGAATC	0.455													-	69722115	CT	-	69722114	7	5	4	1	0	1	0	1	0	0	0	0	4556	565	20	0	2811	0	DLG3	23	69722114	Frame_Shift_Del	DEL	CT	TCGA-BR-4184-01A-01D-1126-08	106288	69722114	85548446	4535	6600											
SLC7A3	84889	broad.mit.edu	37	chrX	70149776	70149776	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catctggcaaggcgagtctcAgccatgcctgactccagtgt	11	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:70149776A>C	uc004dyn.3	-	1	246	c.72T>G	c.(70-72)gcT>gcG	p.A24A	SLC7A3_uc004dyo.3_Silent_p.A24A	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	24					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGCGAGTCTCAGCCATGCCTG	0.557													C	70149776	A	C	70149776	2	2	4	1	0	0	0	0	0	0	0	1	14698	175	7	5		5	SLC7A3	23	70149776	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	427662	70149776	85120784	4536	6601											
TAF1	6872	broad.mit.edu	37	chrX	70598858	70598858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctagcatgactaggaatgCgatggcttacaatgttcagc	10	8	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:70598858C>T	uc004dzu.4	+	7	1385	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.A466V	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	445					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ACTAGGAATGCGATGGCTTAC	0.493													T	70598858	C	T	70598858	3	4	4	1	0	0	0	0	1	0	0	0	15510	768	27	1	1427	1	TAF1	23	70598858	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	449082	70598858	84671702	4537	6602											
TAF1	6872	broad.mit.edu	37	chrX	70603863	70603863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagagatgttttttatgCgcacacctcaggacctcaca	10	10	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:70603863C>T	uc004dzu.4	+	12	2047	c.1996C>T	c.(1996-1998)Cgc>Tgc	p.R666C	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.R687C	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	666					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTTTTTTATGCGCACACCTCA	0.448													T	70603863	C	T	70603863	3	4	4	1	0	0	0	0	1	0	0	0	15510	768	27	1	2109	1	TAF1	23	70603863	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	5005	70603863	84666697	4538	6603											
OGT	8473	broad.mit.edu	37	chrX	70779183	70779183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcagtgatggtcggctgCgtgtaggatatgtgagttcc	15	7	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:70779183C>T	uc004eaa.2	+	12	1907	c.1669C>T	c.(1669-1671)Cgt>Tgt	p.R557C	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.R547C|OGT_uc004eac.3_Missense_Mutation_p.R418C|OGT_uc004ead.3_Missense_Mutation_p.R176C	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	557					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TGGTCGGCTGCGTGTAGGATA	0.398													T	70779183	C	T	70779183	3	4	4	1	0	0	0	0	1	0	0	0	10847	768	27	1	1719	1	OGT	23	70779183	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	175320	70779183	84491377	4539	6604											
ERCC6L	54821	broad.mit.edu	37	chrX	71425358	71425358	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagatcttctagagttcaTagacttatttacactactgg	7	8	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:71425358T>C	uc004eaq.1	-	1	3356	c.3259A>G	c.(3259-3261)Atg>Gtg	p.M1087V	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.M964V	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	1087					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	p.M1087I(1)		breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CTAGAGTTCATAGACTTATTT	0.413													C	71425358	T	C	71425358	3	2	4	1	0	0	0	0	1	0	0	0	5218	1406	49	3	497	3	ERCC6L	23	71425358	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	646175	71425358	83845202	4540	6605											
CDX4	1046	broad.mit.edu	37	chrX	72667389	72667389	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacagtgccggtgaacgaCgtgacctctagccccgccgc	13	16	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:72667389C>T	uc011mqk.2	+	0	300	c.300C>T	c.(298-300)gaC>gaT	p.D100D		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	100						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CGGTGAACGACGTGACCTCTA	0.647													T	72667389	C	T	72667389	2	4	4	1	0	0	0	0	0	0	0	1	3184	535	19	1		1	CDX4	23	72667389	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1242031	72667389	82603171	4541	6606											
ATP7A	538	broad.mit.edu	37	chrX	77243895	77243895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttgtttctgactgttaCggcgtcactgactttgccat	8	12	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:77243895C>T	uc004ecx.4	+	2	438	c.278C>T	c.(277-279)aCg>aTg	p.T93M	ATP7A_uc004ecw.2_Missense_Mutation_p.T93M	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	93					ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CTGACTGTTACGGCGTCACTG	0.443													T	77243895	C	T	77243895	3	4	4	1	0	0	0	0	1	0	0	0	1190	536	19	1	284	1	ATP7A	23	77243895	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	4576506	77243895	78026665	4542	6607											
HDX	139324	broad.mit.edu	37	chrX	83724399	83724399	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgaactggctggactgTatataccagttacaatgaca	9	7	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:83724399T>C	uc011mqv.2	-	3	579	c.332A>G	c.(331-333)tAc>tGc	p.Y111C	HDX_uc004eel.2_Missense_Mutation_p.Y53C|HDX_uc004eek.2_Missense_Mutation_p.Y111C	NM_001177479	NP_001170949	Q7Z353	HDX_HUMAN	Homo sapiens highly divergent homeobox (HDX), transcript variant 1, mRNA.	111						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.I110M(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GGCTGGACTGTATATACCAGT	0.403													C	83724399	T	C	83724399	3	2	4	1	0	0	0	0	1	0	0	0	7026	1638	57	3	1772	3	HDX	23	83724399	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	6480504	83724399	71546161	4543	6608											
ZNF711	7552	broad.mit.edu	37	chrX	84523321	84523321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatgaaagaagagtttcccGaaggtatgaagattgtcaag	12	4	1	6			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:84523321G>A	uc004eeq.3	+	7	1962	c.1076G>A	c.(1075-1077)cGa>cAa	p.R359Q	ZNF711_uc004eep.3_Missense_Mutation_p.R313Q|ZNF711_uc004eeo.3_Missense_Mutation_p.R313Q|ZNF711_uc011mqy.1_5'UTR	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	313					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	p.N359N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AGAGTTTCCCGAAGGTATGAA	0.303													A	84523321	G	A	84523321	3	1	4	1	0	0	0	0	1	0	0	0	18113	1058	37	1	956	1	ZNF711	23	84523321	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	798922	84523321	70747239	4544	6609											
CHM	1121	broad.mit.edu	37	chrX	85149202	85149202	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actatgcttacaggtgccttTcatgcatgtcatcgttgaag	9	9	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:85149202T>C	uc004eet.3	-	11	1531	c.1501A>G	c.(1501-1503)Aaa>Gaa	p.K501E	CHM_uc011mqz.2_Missense_Mutation_p.K353E	NM_000390	NP_000381	P24386	RAE1_HUMAN	Homo sapiens choroideremia (Rab escort protein 1) (CHM), transcript variant 1, mRNA.	501					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				CAGGTGCCTTTCATGCATGTC	0.398													C	85149202	T	C	85149202	3	2	4	1	0	0	0	0	1	0	0	0	3350	1792	62	3	476	3	CHM	23	85149202	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	625881	85149202	70121358	4545	6610											
NAP1L3	4675	broad.mit.edu	37	chrX	92927519	92927519	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctttaggctgttctttaTcatctgcctttacctggggg	10	9	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:92927519T>C	uc004efq.3	-	0	1164	c.785A>G	c.(784-786)gAt>gGt	p.D262G	FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.	262					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CTGTTCTTTATCATCTGCCTT	0.443													C	92927519	T	C	92927519	3	2	4	1	0	0	0	0	1	0	0	0	10158	1435	50	3	739	3	NAP1L3	23	92927519	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	7778317	92927519	62343041	4546	6611											
SYTL4	94121	broad.mit.edu	37	chrX	99942125	99942125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcactccttcacatggaCaaccagactctgggtttgct	9	12	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:99942125C>T	uc004egd.4	-	12	1479	c.1123G>A	c.(1123-1125)Gtc>Atc	p.V375I	SYTL4_uc010nnb.3_Missense_Mutation_p.V47I|SYTL4_uc010nnc.3_Missense_Mutation_p.V375I|SYTL4_uc004ege.4_Missense_Mutation_p.V375I|SYTL4_uc004egf.4_Missense_Mutation_p.V375I|SYTL4_uc004egg.4_3'UTR	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	375	C2 1.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCACATGGACAACCAGACTC	0.512													T	99942125	C	T	99942125	3	4	4	1	0	0	0	0	1	0	0	0	15482	478	17	4	920	4	SYTL4	23	99942125	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	7014606	99942125	55328435	4547	6612											
NOX1	27035	broad.mit.edu	37	chrX	100105262	100105262	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtcaaagtaaaaggatgCcattccaggagagagattga	13	5	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:100105262C>T	uc004egj.3	-	8	1217	c.1011G>A	c.(1009-1011)tgG>tgA	p.W337*	NOX1_uc004egl.4_Nonsense_Mutation_p.W337*|NOX1_uc010nne.3_Nonsense_Mutation_p.W300*	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	337	FAD-binding FR-type.				FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TAAAAGGATGCCATTCCAGGA	0.458													T	100105262	C	T	100105262	4	4	4	1	0	0	0	0	0	1	0	0	10556	740	26	2	703	2	NOX1	23	100105262	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	163137	100105262	55165298	4548	6613											
TRMT2B	79979	broad.mit.edu	37	chrX	100297067	100297067	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catctagtggtccaagatggCttggtttcttctgacttttt	9	8	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:100297067C>A	uc004egt.3	-	2	625	c.212G>T	c.(211-213)aGc>aTc	p.S71I	TRMT2B_uc004egu.3_Intron|TRMT2B_uc004egr.3_Missense_Mutation_p.S71I|TRMT2B_uc004egv.3_Missense_Mutation_p.S71I|TRMT2B_uc004egq.3_Missense_Mutation_p.S71I|TRMT2B_uc004egs.3_Missense_Mutation_p.S71I	NM_001167970	NP_079193	Q96GJ1	TRM2_HUMAN	Homo sapiens TRM2 tRNA methyltransferase 2 homolog B (S. cerevisiae) (TRMT2B), transcript variant 2, mRNA.	71							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TCCAAGATGGCTTGGTTTCTT	0.473													A	100297067	C	A	100297067	3	1	4	1	0	0	0	0	1	0	0	0	16563	797	28	5	1350	5	TRMT2B	23	100297067	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	191805	100297067	54973493	4549	6614											
DRP2	1821	broad.mit.edu	37	chrX	100505442	100505442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagtggccaactcaggcaGccagtgtgaccagcgccacc	11	16	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:100505442G>A	uc004egz.2	+	14	1940	c.1571G>A	c.(1570-1572)aGc>aAc	p.S524N	DRP2_uc011mrh.1_Missense_Mutation_p.S446N	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	524					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						AACTCAGGCAGCCAGTGTGAC	0.612													A	100505442	G	A	100505442	3	1	4	1	0	0	0	0	1	0	0	0	4764	971	34	2	1621	2	DRP2	23	100505442	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	208375	100505442	54765118	4550	6615											
NXF3	56000	broad.mit.edu	37	chrX	102339721	102339721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgggatgaagaatgcatgCcaggattgacaggttcagac	14	6	1	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:102339721C>T	uc004eju.3	-	1	190	c.119G>A	c.(118-120)gGc>gAc	p.G40D	NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Missense_Mutation_p.G40D|NXF3_uc011mrx.1_Intron	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	40						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						AGAATGCATGCCAGGATTGAC	0.433													T	102339721	C	T	102339721	3	4	4	1	0	0	0	0	1	0	0	0	10785	739	26	2	1548	2	NXF3	23	102339721	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1834279	102339721	52930839	4551	6616											
NRK	203447	broad.mit.edu	37	chrX	105178303	105178303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgactcaggtgctgcaccGtcagcacctgatcatgagag	11	11	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:105178303G>A	uc004emd.3	+	19	3669	c.3366G>A	c.(3364-3366)ccG>ccA	p.P1122P	NRK_uc010npc.1_Silent_p.P790P	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1122							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GTGCTGCACCGTCAGCACCTG	0.418										HNSCC(51;0.14)			A	105178303	G	A	105178303	2	1	4	1	0	0	0	0	0	0	0	1	10655	1132	40	1		1	NRK	23	105178303	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2838582	105178303	50092257	4552	6617											
MUM1L1	139221	broad.mit.edu	37	chrX	105450135	105450135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttaaagatgaaaagtttgCtccacctttgtcacctttgt	7	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:105450135C>T	uc022cca.1	+	0	710	c.710C>T	c.(709-711)gCt>gTt	p.A237V	MUM1L1_uc004emg.2_Missense_Mutation_p.A237V|MUM1L1_uc004emf.2_Missense_Mutation_p.A237V	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	237										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GAAAAGTTTGCTCCACCTTTG	0.418													T	105450135	C	T	105450135	3	4	4	1	0	0	0	0	1	0	0	0	9986	797	28	2	712	2	MUM1L1	23	105450135	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	271832	105450135	49820425	4553	6618											
PSMD10	5716	broad.mit.edu	37	chrX	107331059	107331059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagcatctggattagccccGccttccagtaacatgacagc	8	13	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:107331059G>A	uc004enp.2	-	3	508	c.384C>T	c.(382-384)ggC>ggT	p.G128G	PSMD10_uc004enq.2_Silent_p.G128G|PSMD10_uc010nph.2_Silent_p.G79G	NM_002814	NP_002805	O75832	PSD10_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 (PSMD10), transcript variant 1, mRNA.	128	Interaction with RELA.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|mRNA metabolic process|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|viral reproduction	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle	transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GATTAGCCCCGCCTTCCAGTA	0.433													A	107331059	G	A	107331059	2	1	4	1	0	0	0	0	0	0	0	1	12693	1074	38	1		1	PSMD10	23	107331059	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1880924	107331059	47939501	4554	6619											
COL4A6	1288	broad.mit.edu	37	chrX	107422584	107422584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaccaggtaagcctggaCtgccaatcatcccaggcaag	11	12	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:107422584C>T	uc004enw.4	-	25	2322	c.2219G>A	c.(2218-2220)aGt>aAt	p.S740N	COL4A6_uc004env.4_Missense_Mutation_p.S739N|COL4A6_uc011msn.2_Missense_Mutation_p.S739N|COL4A6_uc010npk.3_Missense_Mutation_p.S739N	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	740	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.P740S(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TAAGCCTGGACTGCCAATCAT	0.542									Alport syndrome with Diffuse Leiomyomatosis				T	107422584	C	T	107422584	3	4	4	1	0	0	0	0	1	0	0	0	3695	565	20	4	2936	4	COL4A6	23	107422584	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	91525	107422584	47847976	4555	6620											
GUCY2F	2986	broad.mit.edu	37	chrX	108691393	108691393	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggattttatttatacgacGcctaaaacaaacatgaaatc	5	8	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:108691393G>A	uc022cch.1	-	5	1558	c.1473_splice	c.e5-1	p.R491_splice	GUCY2F_uc011msq.2_Splice_Site|GUCY2F_uc004eod.4_Splice_Site_p.R491_splice	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	491					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TTTATACGACGCCTAAAACAA	0.398													A	108691393	G	A	108691393	5	1	4	1	0	0	0	0	0	0	1	0	6898	1101	38	1	1908	1	GUCY2F	23	108691393	Splice_Site	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1268809	108691393	46579167	4556	6621											
GUCY2F	2986	broad.mit.edu	37	chrX	108719095	108719095	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcagatgcaaggccatggTgtcccagcagtttcctgaaa	12	10	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:108719095T>C	uc022cch.1	-	0	156	c.71A>G	c.(70-72)cAc>cGc	p.H24R	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.H24R	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	24					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAGGCCATGGTGTCCCAGCAG	0.562											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	108719095	T	C	108719095	3	2	4	1	0	0	0	0	1	0	0	0	6898	1696	59	3	3327	3	GUCY2F	23	108719095	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	27702	108719095	46551465	4557	6622											
ACSL4	2182	broad.mit.edu	37	chrX	108887403	108887403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttgattggaatttcaaatCgctccaatttcactgaaatt	5	9	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:108887403C>T	uc004eoi.2	-	16	2496	c.1991G>A	c.(1990-1992)cGa>cAa	p.R664Q	ACSL4_uc004eoj.2_Missense_Mutation_p.R623Q|ACSL4_uc004eok.2_Missense_Mutation_p.R623Q	NM_022977	NP_004449	O60488	ACSL4_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 4 (ACSL4), transcript variant 2, mRNA.	664					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	AATTTCAAATCGCTCCAATTT	0.473													T	108887403	C	T	108887403	3	4	4	1	0	0	0	0	1	0	0	0	179	884	31	1	148	1	ACSL4	23	108887403	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	168308	108887403	46383157	4558	6623											
RGAG1	57529	broad.mit.edu	37	chrX	109695400	109695400	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaaccagttacggcaacaGcctctgaaacaatgtccatg	7	14	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:109695400G>T	uc004eor.2	+	2	1801	c.1555G>T	c.(1555-1557)Gcc>Tcc	p.A519S	RGAG1_uc011msr.1_Missense_Mutation_p.A519S	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	519										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TACGGCAACAGCCTCTGAAAC	0.512													T	109695400	G	T	109695400	3	4	4	1	0	0	0	0	1	0	0	0	13274	971	34	5	1557	5	RGAG1	23	109695400	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	807997	109695400	45575160	4559	6624											
RGAG1	57529	broad.mit.edu	37	chrX	109696693	109696693	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatggtctctggagggatgTccaagccattaatgagagcc	12	10	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:109696693T>C	uc004eor.2	+	2	3094	c.2848T>C	c.(2848-2850)Tcc>Ccc	p.S950P	RGAG1_uc011msr.1_Missense_Mutation_p.S950P	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	950										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGGAGGGATGTCCAAGCCATT	0.512													C	109696693	T	C	109696693	3	2	4	1	0	0	0	0	1	0	0	0	13274	1667	58	3	2850	3	RGAG1	23	109696693	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1293	109696693	45573867	4560	6625											
ZCCHC16	340595	broad.mit.edu	37	chrX	111698834	111698834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcacttcacaagagattGccttgccaaacgttctcgag	9	11	3	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:111698834G>A	uc022cct.1	+	0	878	c.878G>A	c.(877-879)tGc>tAc	p.C293Y	ZCCHC16_uc004epo.1_Missense_Mutation_p.C293Y	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	293							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACAAGAGATTGCCTTGCCAAA	0.517													A	111698834	G	A	111698834	3	1	4	1	0	0	0	0	1	0	0	0	17581	1319	46	2	880	2	ZCCHC16	23	111698834	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	2002141	111698834	43571726	4561	6626											
LUZP4	51213	broad.mit.edu	37	chrX	114536676	114536676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatcaaaagctcatagacatCgccatcggagaggtaaagta	9	8	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:114536676C>T	uc004eqa.3	+	1	245	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	LUZP4_uc004eqb.3_Silent_p.I28I	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	Homo sapiens leucine zipper protein 4 (LUZP4), mRNA.	71						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						TCATAGACATCGCCATCGGAG	0.348													T	114536676	C	T	114536676	3	4	4	1	0	0	0	0	1	0	0	0	9088	884	31	1	217	1	LUZP4	23	114536676	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2837842	114536676	40733884	4562	6627											
LUZP4	51213	broad.mit.edu	37	chrX	114537928	114537928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaaaaccatcccaaaaacCttctggattcaagtctggac	5	11	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:114537928C>T	uc004eqa.3	+	2	321	c.287C>T	c.(286-288)cCt>cTt	p.P96L	LUZP4_uc004eqb.3_Intron	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	Homo sapiens leucine zipper protein 4 (LUZP4), mRNA.	96						nucleus		p.P96T(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						TCCCAAAAACCTTCTGGATTC	0.338													T	114537928	C	T	114537928	3	4	4	1	0	0	0	0	1	0	0	0	9088	681	24	4	297	4	LUZP4	23	114537928	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	1252	114537928	40732632	4563	6628											
LUZP4	51213	broad.mit.edu	37	chrX	114540908	114540908	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaaatcatcattctgagCgatcccgaaaccacttagag	7	10	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:114540908C>T	uc004eqa.3	+	3	515	c.481C>T	c.(481-483)Cga>Tga	p.R161*	LUZP4_uc004eqb.3_Nonsense_Mutation_p.R79*	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	Homo sapiens leucine zipper protein 4 (LUZP4), mRNA.	161						nucleus		p.R161Q(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						TCATTCTGAGCGATCCCGAAA	0.463													T	114540908	C	T	114540908	4	4	4	1	0	0	0	0	0	1	0	0	9088	760	27	1	495	1	LUZP4	23	114540908	Nonsense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2980	114540908	40729652	4564	6629											
PLS3	5358	broad.mit.edu	37	chrX	114877715	114877715	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacccctgctgatgttgtcAgtggaaaccccaaactcaac	7	13	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:114877715A>G	uc004eqe.3	+	9	1212	c.1078A>G	c.(1078-1080)Agt>Ggt	p.S360G	PLS3_uc010nqg.3_Missense_Mutation_p.S142G|PLS3_uc004eqd.3_Missense_Mutation_p.S360G|PLS3_uc011mtf.2_Missense_Mutation_p.S347G|PLS3_uc011mth.2_Missense_Mutation_p.S315G|PLS3_uc011mtg.2_Missense_Mutation_p.S333G|PLS3_uc011mti.2_Missense_Mutation_p.S36G|PLS3_uc011mtj.2_Intron|PLS3_uc011mtl.2_Non-coding_Transcript	NM_001136025	NP_005023	P13797	PLST_HUMAN	Homo sapiens plastin 3 (PLS3), transcript variant 2, mRNA.	360	Actin-binding 1.|CH 2.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						TGATGTTGTCAGTGGAAACCC	0.413													G	114877715	A	G	114877715	3	3	4	1	0	0	0	0	1	0	0	0	12108	188	7	3	1112	3	PLS3	23	114877715	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	336807	114877715	40392845	4565	6630											
AGTR2	186	broad.mit.edu	37	chrX	115303556	115303556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagggcaactccacccttgCcactactagcaaaaacatta	6	13	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:115303556C>T	uc022cdd.1	+	0	23	c.23C>T	c.(22-24)gCc>gTc	p.A8V	AGTR2_uc004eqh.4_Missense_Mutation_p.A8V	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	8					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	p.L7I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TCCACCCTTGCCACTACTAGC	0.433													T	115303556	C	T	115303556	3	4	4	1	0	0	0	0	1	0	0	0	402	739	26	2	25	2	AGTR2	23	115303556	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	425841	115303556	39967004	4566	6631											
DOCK11	139818	broad.mit.edu	37	chrX	117722426	117722426	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggattcagatgaaagtgaCgctagtgccctaaaggtttg	13	7	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:117722426C>T	uc004eqp.2	+	17	2094	c.2031C>T	c.(2029-2031)gaC>gaT	p.D677D	DOCK11_uc004eqq.2_Silent_p.D443D	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	677	DHR-1.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ATGAAAGTGACGCTAGTGCCC	0.353													T	117722426	C	T	117722426	2	4	4	1	0	0	0	0	0	0	0	1	4686	535	19	1		1	DOCK11	23	117722426	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2418870	117722426	37548134	4567	6632											
DOCK11	139818	broad.mit.edu	37	chrX	117773400	117773400	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttaaaatttattttagggTgcatgatgcctggctgtcaa	9	6	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:117773400T>C	uc004eqp.2	+	37	4067	c.4004T>C	c.(4003-4005)gTg>gCg	p.V1335A	DOCK11_uc004eqq.2_Missense_Mutation_p.V1114A	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1335					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TATTTTAGGGTGCATGATGCC	0.388													C	117773400	T	C	117773400	3	2	4	1	0	0	0	0	1	0	0	0	4686	1696	59	3	4154	3	DOCK11	23	117773400	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	50974	117773400	37497160	4568	6633											
NKRF	55922	broad.mit.edu	37	chrX	118723342	118723342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgaggcataacaagctcGtaatggcccacttggccttc	10	12	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:118723342G>A	uc022cdk.1	-	3	2313	c.2091C>T	c.(2089-2091)taC>taT	p.Y697Y	NKRF_uc004erq.3_Silent_p.Y682Y|NKRF_uc004err.3_Silent_p.Y682Y	NM_001173487	NP_060014	O15226	NKRF_HUMAN	Homo sapiens NFKB repressing factor (NKRF), transcript variant 1, mRNA.	682					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TAACAAGCTCGTAATGGCCCA	0.418													A	118723342	G	A	118723342	2	1	4	1	0	0	0	0	0	0	0	1	10447	1140	40	1		1	NKRF	23	118723342	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	949942	118723342	36547218	4569	6634											
FAM70A	55026	broad.mit.edu	37	chrX	119419030	119419030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggtgttgccccggatgCgaggtgtgcagaattcacgg	16	9	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:119419030C>T	uc004eso.4	-	6	763	c.536G>A	c.(535-537)cGc>cAc	p.R179H	FAM70A_uc004esp.4_Missense_Mutation_p.R155H|FAM70A_uc010nqo.3_Intron	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	179						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						GCCCCGGATGCGAGGTGTGCA	0.532													T	119419030	C	T	119419030	3	4	4	1	0	0	0	0	1	0	0	0	5605	768	27	1	529	1	FAM70A	23	119419030	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	695688	119419030	35851530	4570	6635											
ATP1B4	23439	broad.mit.edu	37	chrX	119504981	119504981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttatgatcagacccttcGcccatagccttaacttcaac	6	13	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:119504981G>A	uc004esr.3	+	3	562	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	ATP1B4_uc004esq.3_Missense_Mutation_p.A156T|ATP1B4_uc011mtx.2_Missense_Mutation_p.A125T|ATP1B4_uc011mty.2_Missense_Mutation_p.A117T	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 4 polypeptide (ATP1B4), transcript variant 1, mRNA.	160					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	p.A156T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CAGACCCTTCGCCCATAGCCT	0.403													A	119504981	G	A	119504981	3	1	4	1	0	0	0	0	1	0	0	0	1135	1087	38	1	492	1	ATP1B4	23	119504981	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	85951	119504981	35765579	4571	6636											
C1GALT1C1	29071	broad.mit.edu	37	chrX	119760637	119760637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctctatacttatcaaaggCgtatttgtaagcttttctca	6	8	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:119760637C>T	uc022cdo.1	-	0	385	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	C1GALT1C1_uc004esy.3_Missense_Mutation_p.A129T|C1GALT1C1_uc004esz.3_Missense_Mutation_p.A129T	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN	Homo sapiens C1GALT1-specific chaperone 1 (C1GALT1C1), transcript variant 1, mRNA.	129						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						TTATCAAAGGCGTATTTGTAA	0.343													T	119760637	C	T	119760637	3	4	4	1	0	0	0	0	1	0	0	0	1953	768	27	1	575	1	C1GALT1C1	23	119760637	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	255656	119760637	35509923	4572	6637											
GRIA3	2892	broad.mit.edu	37	chrX	122537363	122537363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggaccatagtagtgactaCcattctggtaagtgtgaaca	10	8	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:122537363C>T	uc004etq.4	+	8	1578	c.1286C>T	c.(1285-1287)aCc>aTc	p.T429I	GRIA3_uc004etr.4_Missense_Mutation_p.T429I|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.T413I	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	429					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GTAGTGACTACCATTCTGGTA	0.438													T	122537363	C	T	122537363	3	4	4	1	0	0	0	0	1	0	0	0	6769	507	18	4	1320	4	GRIA3	23	122537363	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	2776726	122537363	32733197	4573	6638											
THOC2	57187	broad.mit.edu	37	chrX	122757719	122757719	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctttccaaagcttgaCccagattcaaaacttttggg	6	11	3	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:122757719C>G	uc004etu.3	-	27	3454	c.3422G>C	c.(3421-3423)gGt>gCt	p.G1141A	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_5'Flank	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1141					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CAAAGCTTGACCCAGATTCAA	0.368													G	122757719	C	G	122757719	3	3	4	1	0	0	0	0	1	0	0	0	15862	507	18	5	1403	5	THOC2	23	122757719	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	220356	122757719	32512841	4574	6639											
STAG2	10735	broad.mit.edu	37	chrX	123185030	123185030	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctttattataacaaagaGcttaattccaaactggaact	7	7	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:123185030G>A	uc004eua.3	+	11	1481	c.1077G>A	c.(1075-1077)gaG>gaA	p.E359E	STAG2_uc004etz.4_Silent_p.E359E|STAG2_uc004eub.3_Silent_p.E359E|STAG2_uc004euc.3_Silent_p.E359E|STAG2_uc004eud.3_Silent_p.E359E|STAG2_uc004eue.3_Silent_p.E359E	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	359	SCD.				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ATAACAAAGAGCTTAATTCCA	0.299													A	123185030	G	A	123185030	2	1	4	1	0	0	0	0	0	0	0	1	15242	962	34	2		2	STAG2	23	123185030	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	427311	123185030	32085530	4575	6640											
STAG2	10735	broad.mit.edu	37	chrX	123229279	123229279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgatttctttgatccaGcttcaattatggatgaatca	7	8	3	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:123229279G>A	uc004eua.3	+	33	4167	c.3763G>A	c.(3763-3765)Gct>Act	p.A1255T	STAG2_uc004etz.4_Missense_Mutation_p.A1218T|STAG2_uc004eub.3_Missense_Mutation_p.A1218T|STAG2_uc004euc.3_Missense_Mutation_p.A1255T|STAG2_uc004eud.3_Missense_Mutation_p.A1218T|STAG2_uc004eue.3_Missense_Mutation_p.A1218T	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	1218					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CTTTGATCCAGCTTCAATTAT	0.373													A	123229279	G	A	123229279	3	1	4	1	0	0	0	0	1	0	0	0	15242	971	34	2	3889	2	STAG2	23	123229279	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	44249	123229279	32041281	4576	6641											
ODZ1	10178	broad.mit.edu	37	chrX	123514894	123514894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggttttccaggtaatggGcattattgagaatggcagca	13	5	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:123514894G>A	uc010nqy.3	-	31	7755	c.7691C>T	c.(7690-7692)gCc>gTc	p.A2564V	ODZ1_uc011muj.2_Missense_Mutation_p.A2563V|ODZ1_uc004euj.3_Missense_Mutation_p.A2557V	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2557					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CAGGTAATGGGCATTATTGAG	0.443													A	123514894	G	A	123514894	3	1	4	1	0	0	0	0	1	0	0	0	10834	1203	42	2	511	2	ODZ1	23	123514894	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	285615	123514894	31755666	4577	6642											
ODZ1	10178	broad.mit.edu	37	chrX	123517988	123517988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctaggctggacttactcgCgacacgtcgcccaagcccat	9	17	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:123517988C>T	uc010nqy.3	-	29	6857	c.6793G>A	c.(6793-6795)Gcg>Acg	p.A2265T	ODZ1_uc011muj.2_Missense_Mutation_p.A2264T|ODZ1_uc004euj.3_Missense_Mutation_p.A2258T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2258					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.A2260T(2)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GACTTACTCGCGACACGTCGC	0.458													T	123517988	C	T	123517988	3	4	4	1	0	0	0	0	1	0	0	0	10834	768	27	1	1417	1	ODZ1	23	123517988	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3094	123517988	31752572	4578	6643											
ODZ1	10178	broad.mit.edu	37	chrX	123539084	123539084	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtgacacgcagggaaccatCtggattcacccgataggtac	11	11	2	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:123539084C>T	uc010nqy.3	-	26	5252	c.5188G>A	c.(5188-5190)Gat>Aat	p.D1730N	ODZ1_uc011muj.2_Missense_Mutation_p.D1729N|ODZ1_uc004euj.3_Missense_Mutation_p.D1723N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1723					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						AGGGAACCATCTGGATTCACC	0.542													T	123539084	C	T	123539084	3	4	4	1	0	0	0	0	1	0	0	0	10834	913	32	4	3034	4	ODZ1	23	123539084	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	21096	123539084	31731476	4579	6644											
ODZ1	10178	broad.mit.edu	37	chrX	123556366	123556366	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcacctggcagtgaatgggGcgtcctgcgatgatccgaac	15	11	0	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:123556366G>T	uc010nqy.3	-	23	4291	c.4227C>A	c.(4225-4227)cgC>cgA	p.R1409R	ODZ1_uc011muj.2_Silent_p.R1408R|ODZ1_uc004euj.3_Silent_p.R1402R	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1402					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						AGTGAATGGGGCGTCCTGCGA	0.493													T	123556366	G	T	123556366	2	4	4	1	0	0	0	0	0	0	0	1	10834	1190	42	5		5	ODZ1	23	123556366	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	17282	123556366	31714194	4580	6645											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299778	125299778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgacgcgtcgccggccGcttctgcttcttgggtagca	13	15	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:125299778G>A	uc004euk.2	-	0	303	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	44										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GTCGCCGGCCGCTTCTGCTTC	0.731													A	125299778	G	A	125299778	3	1	4	1	0	0	0	0	1	0	0	0	4265	1086	38	1	1265	1	DCAF12L2	23	125299778	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1743412	125299778	29970782	4581	6646											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686328	125686328	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccagctccagttggcgctcCgtcagcagctcgggcagcct	12	17	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:125686328C>A	uc022cds.1	-	0	264	c.264G>T	c.(262-264)acG>acT	p.T88T	DCAF12L1_uc004eul.3_Silent_p.T88T	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	88										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GTTGGCGCTCCGTCAGCAGCT	0.657													A	125686328	C	A	125686328	2	1	4	1	0	0	0	0	0	0	0	1	4264	639	23	5		5	DCAF12L1	23	125686328	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	386550	125686328	29584232	4582	6647											
OCRL	4952	broad.mit.edu	37	chrX	128696607	128696607	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggtagctgtgagatttgTatttcacaacaccacctttt	9	8	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:128696607T>C	uc004euq.3	+	11	1253	c.1088T>C	c.(1087-1089)gTa>gCa	p.V363A	OCRL_uc004eur.3_Missense_Mutation_p.V363A	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	363					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GTGAGATTTGTATTTCACAAC	0.393													C	128696607	T	C	128696607	3	2	4	1	0	0	0	0	1	0	0	0	10823	1638	57	3	1134	3	OCRL	23	128696607	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	3010279	128696607	26573953	4583	6648											
OCRL	4952	broad.mit.edu	37	chrX	128718327	128718327	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgctccgctctcaggaagaaGacagcttcctagaaaaggta	10	10	1	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:128718327G>A	uc004euq.3	+	18	2287	c.2122G>A	c.(2122-2124)Gac>Aac	p.D708N	OCRL_uc004eur.3_Intron	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	708					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TCAGGAAGAAGACAGCTTCCT	0.393													A	128718327	G	A	128718327	3	1	4	1	0	0	0	0	1	0	0	0	10823	942	33	4	2196	4	OCRL	23	128718327	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	21720	128718327	26552233	4584	6649											
RBMX2	51634	broad.mit.edu	37	chrX	129546424	129546424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcctcttcgtcacccagaCgcaagacagtaaaggaaaag	8	12	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:129546424C>T	uc004evt.3	+	5	635	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C		NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN	Homo sapiens RNA binding motif protein, X-linked 2 (RBMX2), mRNA.	191	Lys-rich.						RNA binding|nucleotide binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						GTCACCCAGACGCAAGACAGT	0.483													T	129546424	C	T	129546424	3	4	4	1	0	0	0	0	1	0	0	0	13152	536	19	1	593	1	RBMX2	23	129546424	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	828097	129546424	25724136	4585	6650											
RBMX2	51634	broad.mit.edu	37	chrX	129546773	129546773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggcataaaagggcccgacGctcccgggagcgggagtctt	15	11	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:129546773G>A	uc004evt.3	+	5	984	c.920G>A	c.(919-921)cGc>cAc	p.R307H		NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN	Homo sapiens RNA binding motif protein, X-linked 2 (RBMX2), mRNA.	307	Arg-rich.			SSDAHSSWYNGRSEGRSYRSRSRSRDKSHRHKRARRSRERE SSNPSDRWRH -> LQMHILAGIMGVLKGVVIEVEVGAEIN PIGIKGPDAPGRGVLRIPVTVGVTEDFSCTVDLEIIMFFKC SQIQLGGYYFCI (in Ref. 1; AAD34074).			RNA binding|nucleotide binding	p.R306*(1)		breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						AGGGCCCGACGCTCCCGGGAG	0.473													A	129546773	G	A	129546773	3	1	4	1	0	0	0	0	1	0	0	0	13152	1087	38	1	942	1	RBMX2	23	129546773	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	349	129546773	25723787	4586	6651											
IGSF1	3547	broad.mit.edu	37	chrX	130415705	130415705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttaggatgtgtctctacgCgatagctgcaactgtaggtc	12	8	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:130415705C>T	uc004ewe.4	-	7	1743	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	IGSF1_uc004ewd.3_Missense_Mutation_p.R487H|IGSF1_uc022cdv.1_Missense_Mutation_p.R478H|IGSF1_uc004ewf.2_Missense_Mutation_p.R467H	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	487	Ig-like C2-type 5.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGTCTCTACGCGATAGCTGCA	0.493													T	130415705	C	T	130415705	3	4	4	1	0	0	0	0	1	0	0	0	7596	768	27	1	2617	1	IGSF1	23	130415705	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	868932	130415705	24854855	4587	6652											
ZNF75D	7626	broad.mit.edu	37	chrX	134421741	134421741	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgatgtagaaacagatatAggatgatcatttccagtgtc	9	6	2	4			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:134421741A>C	uc022ceq.1	-	5	1251	c.861T>G	c.(859-861)ccT>ccG	p.P287P	DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Silent_p.P192P	NM_007131	NP_009062	P51815	ZN75D_HUMAN	Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA.	287	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AAACAGATATAGGATGATCAT	0.363													C	134421741	A	C	134421741	2	2	4	1	0	0	0	0	0	0	0	1	18131	407	15	5		5	ZNF75D	23	134421741	Silent	SNP	A	TCGA-BR-4184-01A-01D-1126-08	4006036	134421741	20848819	4588	6653											
HTATSF1	27336	broad.mit.edu	37	chrX	135593613	135593613	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatttgaagaaaatggtcTcgagaaagatttggacgagg	13	3	1	5			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:135593613T>C	uc004ezw.3	+	9	2131	c.1709T>C	c.(1708-1710)cTc>cCc	p.L570P	HTATSF1_uc004ezx.3_Missense_Mutation_p.L570P	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	570	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GAAAATGGTCTCGAGAAAGAT	0.388													C	135593613	T	C	135593613	3	2	4	1	0	0	0	0	1	0	0	0	7433	1551	54	3	1743	3	HTATSF1	23	135593613	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	1171872	135593613	19676947	4589	6654											
F9	2158	broad.mit.edu	37	chrX	138644001	138644001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacatgtcttcgatctaCaaagttcaccatctataaca	4	12	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:138644001C>T	uc004fas.1	+	7	1186	c.1157C>T	c.(1156-1158)aCa>aTa	p.T386I	F9_uc004fat.1_Missense_Mutation_p.T348I	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	386	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	CTTCGATCTACAAAGTTCACC	0.463													T	138644001	C	T	138644001	3	4	4	1	0	0	0	0	1	0	0	0	5351	478	17	4	1187	4	F9	23	138644001	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	3050388	138644001	16626559	4590	6655											
MCF2	4168	broad.mit.edu	37	chrX	138701772	138701773	+	Frame_Shift_Ins	INS	-	-	T													ttttcatctaagttttccaaINStttttttattttttgtttta							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:138701772_138701773insT	uc004fau.2	-	7	1074_1075	c.780_781insA	c.(778-783)AAATTGfs	p.K260fs	MCF2_uc004fav.2_Frame_Shift_Ins_p.K260fs|MCF2_uc011mwl.1_Frame_Shift_Ins_p.K221fs|MCF2_uc010nsh.1_Frame_Shift_Ins_p.K260fs|MCF2_uc011mwm.1_Frame_Shift_Ins_p.K221fs|MCF2_uc011mwn.1_Frame_Shift_Ins_p.K405fs|MCF2_uc004faw.2_Frame_Shift_Ins_p.K320fs|MCF2_uc011mwo.1_Frame_Shift_Ins_p.K320fs	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	260_261	Spectrin.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					AAGTTTTCCAATTTTTTTATTT	0.307													T	138701773	-	T	138701772	7	5	4	1	0	1	1	0	0	0	0	0	9378	98	4	0	2152	0	MCF2	23	138701772	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	57771	138701772	16568788	4591	6656	13	2									
MCF2	4168	broad.mit.edu	37	chrX	138701773	138701774	+	Frame_Shift_Ins	INS	-	-	T													tttcatctaagttttccaatINSttttttattttttgttttac							TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:138701772_138701773A>AT	uc011mwn.1	-	9	1221_1222	c.1215_1216T>AT	c.(1213-1218)aaattgfs	p.K405fs	MCF2_uc004fav.3_Frame_Shift_Ins_p.K260fs|MCF2_uc004fau.3_Frame_Shift_Ins_p.K260fs|MCF2_uc010nsh.2_Frame_Shift_Ins_p.K260fs|MCF2_uc011mwm.2_Frame_Shift_Ins_p.K221fs|MCF2_uc011mwl.2_Frame_Shift_Ins_p.K221fs|MCF2_uc011mwo.1_Frame_Shift_Ins_p.K320fs|MCF2_uc004faw.2_Frame_Shift_Ins_p.K320fs	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	260					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding	p.L405H(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AAGTTTTCCAATTTTTTTATTT	0.307													T	138701774	-	T	138701773	7	5	4	1	0	1	1	0	0	0	0	0	9378	1490	52	0	2153	0	MCF2	23	138701773	Frame_Shift_Ins	INS	-	TCGA-BR-4184-01A-01D-1126-08	1	138701773	16568787	4592	6657	13	2									
ATP11C	286410	broad.mit.edu	37	chrX	138844225	138844225	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactttggaacagaataatcGctattcctagctgcttggcg	9	9	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:138844225G>A	uc004faz.3	-	21	2643	c.2544C>T	c.(2542-2544)agC>agT	p.S848S	ATP11C_uc004fax.3_Silent_p.S56S|ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Silent_p.S848S	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	848					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CAGAATAATCGCTATTCCTAG	0.363													A	138844225	G	A	138844225	2	1	4	1	0	0	0	0	0	0	0	1	1121	1078	38	1		1	ATP11C	23	138844225	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	142452	138844225	16426335	4593	6658											
IDS	3423	broad.mit.edu	37	chrX	148564576	148564576	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acggggattaccagggaggtAcggatcctcttccaagtcac	12	11	2	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:148564576A>G	uc011mxe.2	-	8	1571	c.1354T>C	c.(1354-1356)Tac>Cac	p.Y452H	IDS_uc011mxd.2_Missense_Mutation_p.Y55H|IDS_uc011mxf.2_Missense_Mutation_p.Y362H|IDS_uc011mxg.2_Missense_Mutation_p.Y241H|IDS_uc010nsu.2_Missense_Mutation_p.Y62H|IDS_uc004fcw.4_Missense_Mutation_p.Y241H	NM_000202	NP_000193	P22304	IDS_HUMAN	Homo sapiens iduronate 2-sulfatase (IDS), transcript variant 1, mRNA.	452						lysosome	iduronate-2-sulfatase activity|metal ion binding	p.P451L(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCAGGGAGGTACGGATCCTCT	0.502													G	148564576	A	G	148564576	3	3	4	1	0	0	0	0	1	0	0	0	7503	391	14	3	302	3	IDS	23	148564576	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	9720351	148564576	6705984	4594	6659											
MAGEA8	4107	broad.mit.edu	37	chrX	149013852	149013852	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcgcccggcagtgatcCtgtgcgctacgagttcctgt	13	14	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:149013852C>A	uc022cgq.1	+	0	806	c.806C>A	c.(805-807)cCt>cAt	p.P269H	MAGEA8_uc022cgo.1_Missense_Mutation_p.P269H|MAGEA8_uc004fdw.2_Missense_Mutation_p.P269H|MAGEA8_uc022cgp.1_Missense_Mutation_p.P269H	NM_005364	NP_005355	P43361	MAGA8_HUMAN	Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA.	269	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					GGCAGTGATCCTGTGCGCTAC	0.577													A	149013852	C	A	149013852	3	1	4	1	0	0	0	0	1	0	0	0	9171	681	24	5	808	5	MAGEA8	23	149013852	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	449276	149013852	6256708	4595	6660											
MTMR1	8776	broad.mit.edu	37	chrX	149901140	149901140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacaataatggatgctaacGcacagtcacacaagcttatc	6	10	1	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:149901140G>A	uc004feh.1	+	9	1153	c.1018G>A	c.(1018-1020)Gca>Aca	p.A340T	MTMR1_uc011mya.1_Missense_Mutation_p.A238T|MTMR1_uc004feg.1_Missense_Mutation_p.A332T|MTMR1_uc004fei.3_Missense_Mutation_p.A332T|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Non-coding_Transcript	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.	332	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGATGCTAACGCACAGTCACA	0.423													A	149901140	G	A	149901140	3	1	4	1	0	0	0	0	1	0	0	0	9938	1087	38	1	1028	1	MTMR1	23	149901140	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	887288	149901140	5369420	4596	6661											
GABRE	2564	broad.mit.edu	37	chrX	151123859	151123859	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcggagtttaggagaaGcatgggcttttgtctggttg	16	5	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:151123859G>T	uc004ffi.3	-	7	1172	c.1118C>A	c.(1117-1119)gCt>gAt	p.A373D	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	373					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTTAGGAGAAGCATGGGCTTT	0.498													T	151123859	G	T	151123859	3	4	4	1	0	0	0	0	1	0	0	0	6170	971	34	5	410	5	GABRE	23	151123859	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	1222719	151123859	4146701	4597	6662											
GABRA3	2556	broad.mit.edu	37	chrX	151358341	151358341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaccagtccatggccgtcGcatatgccactttaggtaag	10	11	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:151358341G>A	uc010ntk.1	-	8	1244	c.1004C>T	c.(1003-1005)gCg>gTg	p.A335V		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	335					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATGGCCGTCGCATATGCCAC	0.468													A	151358341	G	A	151358341	3	1	4	1	0	0	0	0	1	0	0	0	6162	1087	38	1	482	1	GABRA3	23	151358341	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	234482	151358341	3912219	4598	6663											
GABRQ	55879	broad.mit.edu	37	chrX	151821085	151821085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggcaagcccggaaagcCtcggttctttgacgtccacc	10	16	1	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:151821085C>T	uc004ffp.1	+	8	1260	c.1240C>T	c.(1240-1242)Ctc>Ttc	p.L414F		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	414						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CCCGGAAAGCCTCGGTTCTTT	0.627													T	151821085	C	T	151821085	3	4	4	1	0	0	0	0	1	0	0	0	6175	681	24	4	1274	4	GABRQ	23	151821085	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	462744	151821085	3449475	4599	6664											
CETN2	1069	broad.mit.edu	37	chrX	151998218	151998218	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcttcccggatctcctgCttttgctcttcagtaagctc	7	13	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:151998218C>T	uc004fgq.3	-	1	137	c.90G>A	c.(88-90)aaG>aaA	p.K30K	NSDHL_uc004fgt.1_5'Flank|NSDHL_uc004fgs.1_5'Flank	NM_004344	NP_004335	P41208	CETN2_HUMAN	Homo sapiens centrin, EF-hand protein, 2 (CETN2), mRNA.	30	EF-hand 1.				G2/M transition of mitotic cell cycle|cell division|centriole replication|mitosis|nucleotide-excision repair|regulation of cytokinesis	XPC complex|centriole|cytosol	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					GGATCTCCTGCTTTTGCTCTT	0.453								Direct reversal of damage;Nucleotide excision repair (NER)					T	151998218	C	T	151998218	2	4	4	1	0	0	0	0	0	0	0	1	3275	796	28	2		2	CETN2	23	151998218	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	177133	151998218	3272342	4600	6665											
NSDHL	50814	broad.mit.edu	37	chrX	152034374	152034374	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccaggcagttctgggCgccaacgatcctgagaagaa	11	13	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:152034374C>T	uc004fgt.1	+	6	816	c.555C>T	c.(553-555)ggC>ggT	p.G185G	NSDHL_uc004fgs.1_Silent_p.G185G	NM_001129765	NP_057006	Q15738	NSDHL_HUMAN	Homo sapiens NAD(P) dependent steroid dehydrogenase-like (NSDHL), transcript variant 2, mRNA.	185					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|binding|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CAGTTCTGGGCGCCAACGATC	0.582													T	152034374	C	T	152034374	2	4	4	1	0	0	0	0	0	0	0	1	10670	755	27	1		1	NSDHL	23	152034374	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	36156	152034374	3236186	4601	6666											
ZNF275	10838	broad.mit.edu	37	chrX	152613249	152613249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacctcatcaagcaccggcGcatccacagcggactgaaac	9	15	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:152613249G>A	uc011myn.2	+	1	1819	c.917G>A	c.(916-918)cGc>cAc	p.R306H	ZNF275_uc004fhg.2_3'UTR|ZNF275_uc022cht.1_Missense_Mutation_p.R306H|ZNF275_uc022chu.1_5'Flank	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN	Homo sapiens zinc finger protein 275 (ZNF275), mRNA.	285						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGCACCGGCGCATCCACAGC	0.672													A	152613249	G	A	152613249	3	1	4	1	0	0	0	0	1	0	0	0	17807	1102	38	1		1	ZNF275	23	152613249	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08	578875	152613249	2657311	4602	6667											
IDH3G	3421	broad.mit.edu	37	chrX	153053556	153053556	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttgtttcgagatttgtgCgacggtggcaggttatggtt	15	4	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:153053556C>T	uc004fip.3	-	5	567	c.381G>A	c.(379-381)tcG>tcA	p.S127S	IDH3G_uc004fiq.3_Silent_p.S127S|IDH3G_uc004fit.1_Silent_p.S127S|IDH3G_uc004fiu.3_5'Flank	NM_004135	NP_004126	P51553	IDH3G_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) gamma (IDH3G), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	127					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|NAD binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GAGATTTGTGCGACGGTGGCA	0.592													T	153053556	C	T	153053556	2	4	4	1	0	0	0	0	0	0	0	1	7498	755	27	1		1	IDH3G	23	153053556	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	440307	153053556	2217004	4603	6668											
IRAK1	3654	broad.mit.edu	37	chrX	153282484	153282484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacccagaaggatgtccagtCgctgaggccaggagagaggt	15	9	0	3			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:153282484C>T	uc004fjs.1	-	7	1023	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	IRAK1_uc004fjr.1_Missense_Mutation_p.R315Q|IRAK1_uc004fjt.1_Missense_Mutation_p.R315Q|IRAK1_uc004fju.2_Missense_Mutation_p.R341Q	NM_001569	NP_001560	P51617	IRAK1_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 1 (IRAK1), transcript variant 1, mRNA.	315	Protein kinase.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|lipopolysaccharide-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GATGTCCAGTCGCTGAGGCCA	0.602													T	153282484	C	T	153282484	3	4	4	1	0	0	0	0	1	0	0	0	7821	884	31	1	1222	1	IRAK1	23	153282484	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	228928	153282484	1988076	4604	6669											
PLXNA3	55558	broad.mit.edu	37	chrX	153689070	153689070	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtacttccccaccttgagcTcccgcaagctcatcagtgat	7	15	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:153689070T>G	uc004flm.3	+	1	720	c.547T>G	c.(547-549)Tcc>Gcc	p.S183A		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	183	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCTTGAGCTCCCGCAAGCT	0.602													G	153689070	T	G	153689070	3	3	4	1	0	0	0	0	1	0	0	0	12121	1551	54	5	549	5	PLXNA3	23	153689070	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	406586	153689070	1581490	4605	6670											
PLXNA3	55558	broad.mit.edu	37	chrX	153697254	153697254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgccatcacgggcgaggCacgatactccctgagcgagg	14	12	1	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:153697254C>T	uc004flm.3	+	24	4549	c.4376C>T	c.(4375-4377)gCa>gTa	p.A1459V		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1459					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACGGGCGAGGCACGATACTCC	0.617													T	153697254	C	T	153697254	3	4	4	1	0	0	0	0	1	0	0	0	12121	710	25	2	4470	2	PLXNA3	23	153697254	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	8184	153697254	1573306	4606	6671											
H2AFB3	83740	broad.mit.edu	37	chrX	154113536	154113536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaaggtcccggagctggCgggcaacgaggcccagaaca	16	13	0	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:154113536C>T	uc004fmu.3	+	0	220	c.212C>T	c.(211-213)gCg>gTg	p.A71V	F8_uc004fmt.3_Intron|F8_uc004fms.3_Intron|F8A3_uc004fmv.3_5'Flank	NM_080720	NP_001017990	P0C5Z0	H2AB2_HUMAN	Homo sapiens H2A histone family, member B3 (H2AFB3), mRNA.	71					nucleosome assembly	nucleosome|nucleus	DNA binding					all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCGGAGCTGGCGGGCAACGAG	0.627													T	154113536	C	T	154113536	3	4	4	1	0	0	0	0	1	0	0	0	6925	768	27	1	214	1	H2AFB3	23	154113536	Missense_Mutation	SNP	C	TCGA-BR-4184-01A-01D-1126-08	416282	154113536	1157024	4607	6672											
F8	2157	broad.mit.edu	37	chrX	154159120	154159120	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactctctgttgacgatacaTtttttccccatgaactttct	4	12	2	2			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:154159120T>C	uc004fmt.3	-	13	3116	c.2945A>G	c.(2944-2946)aAt>aGt	p.N982S		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	982	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGACGATACATTTTTTCCCCA	0.373													C	154159120	T	C	154159120	3	2	4	1	0	0	0	0	1	0	0	0	5350	1493	52	3	4190	3	F8	23	154159120	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	45584	154159120	1111440	4608	6673											
TMLHE	55217	broad.mit.edu	37	chrX	154754277	154754277	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taatcaaagcgcatcacggtAttagcatatttcagctctag	7	9	4	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:154754277A>T	uc004fnn.3	-	2	369	c.198T>A	c.(196-198)aaT>aaA	p.N66K	TMLHE_uc004fnp.4_Missense_Mutation_p.N66K	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN	Homo sapiens trimethyllysine hydroxylase, epsilon (TMLHE), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	66				N -> D (in Ref. 3; CAG33546).	carnitine biosynthetic process	mitochondrial matrix	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCATCACGGTATTAGCATATT	0.428													T	154754277	A	T	154754277	3	4	4	1	0	0	0	0	1	0	0	0	16229	446	16	5	1231	5	TMLHE	23	154754277	Missense_Mutation	SNP	A	TCGA-BR-4184-01A-01D-1126-08	595157	154754277	516283	4609	6674											
SPRY3	10251	broad.mit.edu	37	chrX	155003998	155003998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgtgggcgctgcaagtgCgtcccctgcacagcagctcg	14	13	0	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:155003998C>T	uc022cio.1	+	0	465	c.465C>T	c.(463-465)tgC>tgT	p.C155C	SPRY3_uc004fnq.1_Silent_p.C155C	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	155	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCTGCAAGTGCGTCCCCTGCA	0.592													T	155003998	C	T	155003998	2	4	4	1	0	0	0	0	0	0	0	1	15106	776	27	1		1	SPRY3	23	155003998	Silent	SNP	C	TCGA-BR-4184-01A-01D-1126-08	249721	155003998	266562	4610	6675											
VAMP7	6845	broad.mit.edu	37	chrX	155169438	155169438	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaacctcaagctcactattaTcatcatcatcgtatcaattg	4	11	6	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:155169438T>A	uc004fnr.3	+	6	753	c.575T>A	c.(574-576)aTc>aAc	p.I192N	VAMP7_uc011naa.2_Missense_Mutation_p.I153N|VAMP7_uc011nab.2_Missense_Mutation_p.I91N|VAMP7_uc004fnt.3_Missense_Mutation_p.I151N|VAMP7_uc004fns.3_Nonsense_Mutation_p.Y169*|VAMP7_uc011nac.2_Missense_Mutation_p.I125N	NM_005638	NP_005629	P51809	VAMP7_HUMAN	Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.	192					ER to Golgi vesicle-mediated transport|calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	Golgi apparatus|SNARE complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTCACTATTATCATCATCATC	0.338													A	155169438	T	A	155169438	3	1	4	1	0	0	0	0	1	0	0	0	17114	1445	50	5	597	5	VAMP7	23	155169438	Missense_Mutation	SNP	T	TCGA-BR-4184-01A-01D-1126-08	165440	155169438	101122	4611	6676											
ZFY	7544	broad.mit.edu	37	chrY	2847736	2847736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacccatttgttctaagtcGccatattctctcagttcaca	5	12	4	1			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrY:2847736G>A	uc004fqj.3	+	7	2429	c.2108G>A	c.(2107-2109)cGc>cAc	p.R703H	ZFY_uc011nan.2_Missense_Mutation_p.R512H|ZFY_uc010nwe.3_Missense_Mutation_p.R626H	NM_003411	NP_003402	P08048	ZFY_HUMAN	Homo sapiens zinc finger protein, Y-linked (ZFY), transcript variant 1, mRNA.	703					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						GTTCTAAGTCGCCATATTCTC	0.373													A	2847736	G	A	2847736	3	1	4	1	0	0	0	0	1	0	0	0	17659	1087	38	1	2134	1	ZFY	24	2847736	Missense_Mutation	SNP	G	TCGA-BR-4184-01A-01D-1126-08		2847736	56525830	4612	6677											
NLGN4Y	22829	broad.mit.edu	37	chrY	16952743	16952743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accattgccgtcggggcgtcGctcctcttcctcaacatctt	8	16	3	0			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrY:16952743G>A	uc011nas.1	+	6	2291	c.2112G>A	c.(2110-2112)tcG>tcA	p.S704S	NLGN4Y_uc004fte.2_Silent_p.S516S|NLGN4Y_uc004ftg.2_Silent_p.S684S|NLGN4Y_uc004ftf.2_Silent_p.S377S|NLGN4Y_uc004fth.2_Silent_p.S684S	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	684					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						TCGGGGCGTCGCTCCTCTTCC	0.532													A	16952743	G	A	16952743	2	1	4	1	0	0	0	0	0	0	0	1	10465	1074	38	1		1	NLGN4Y	24	16952743	Silent	SNP	G	TCGA-BR-4184-01A-01D-1126-08	14105007	16952743	42420823	4613	6678											
KIF1B	23095	broad.mit.edu	37	chr1	10394612	10394612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcaatctgctgtatcccGtgcccctgatccacagggtg	11	13	1	2			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr1:10394612G>A	uc001aqx.3	+	28	3161	c.2959G>A	c.(2959-2961)GTG>ATG	p.V987M	KIF1B_uc001aqw.3_Missense_Mutation_p.V941M|KIF1B_uc001aqy.2_Missense_Mutation_p.V961M|KIF1B_uc001aqz.2_Missense_Mutation_p.V987M|KIF1B_uc001ara.2_Missense_Mutation_p.V947M|KIF1B_uc001arb.2_Missense_Mutation_p.V973M	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	987					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCTGTATCCCGTGCCCCTGAT	0.512													A	10394612	G	A	10394612	3	1	5	1	0	0	0	0	1	0	0	0	8284	1145	40	1	4408	1	KIF1B	1	10394612	Missense_Mutation	SNP	G	TCGA-BR-4187-01A-01D-1126-08		10394612	238856009	1	6679											
EFCAB7	84455	broad.mit.edu	37	chr1	64021086	64021086	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggttaattccttccacaActggctgtaggctgaggaaa	10	9	0	1			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr1:64021086A>G	uc001dbf.2	+	9	1408	c.1114A>G	c.(1114-1116)ACT>GCT	p.T372A		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	372							calcium ion binding				0						TCCTTCCACAACTGGCTGTAG	0.358													G	64021086	A	G	64021086	3	3	5	1	0	0	0	0	1	0	0	0	4940	43	2	3	1144	3	EFCAB7	1	64021086	Missense_Mutation	SNP	A	TCGA-BR-4187-01A-01D-1126-08	53626474	64021086	185229535	2	6680											
COL11A1	1301	broad.mit.edu	37	chr1	103352525	103352525	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtaatcaagaatattatcatCtgcatctgcttgcatgcctt	6	9	4	1			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr1:103352525C>A	uc001dul.2	-	63	5014	c.4696G>T	c.(4696-4698)GAT>TAT	p.D1566Y	COL11A1_uc001duk.2_Missense_Mutation_p.D762Y|COL11A1_uc001dum.2_Missense_Mutation_p.D1578Y|COL11A1_uc001dun.2_Missense_Mutation_p.D1527Y|COL11A1_uc009weh.2_Missense_Mutation_p.D1450Y	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1566					collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATATTATCATCTGCATCTGCT	0.398													A	103352525	C	A	103352525	3	1	5	1	0	0	0	0	1	0	0	0	3667	913	32	5	744	5	COL11A1	1	103352525	Missense_Mutation	SNP	C	TCGA-BR-4187-01A-01D-1126-08	39331439	103352525	145898096	3	6681											
AMY2B	280	broad.mit.edu	37	chr1	104120221	104120221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgtgaacatcgatggcGccaaataaggtgagaatatg	13	6	1	2			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr1:104120221G>A	uc001duq.2	+	10	1827	c.1211G>A	c.(1210-1212)CGC>CAC	p.R404H	AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.R404H|AMY2B_uc001dus.1_RNA	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	404					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CATCGATGGCGCCAAATAAGG	0.343													A	104120221	G	A	104120221	3	1	5	1	0	0	0	0	1	0	0	0	595	1087	38	1	1241	1	AMY2B	1	104120221	Missense_Mutation	SNP	G	TCGA-BR-4187-01A-01D-1126-08	767696	104120221	145130400	4	6682											
TNN	63923	broad.mit.edu	37	chr1	175046731	175046731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgccttggttcaggttgaCgctgaccctcagcccctcag	10	15	4	2			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr1:175046731C>T	uc001gkl.1	+	2	290	c.177C>T	c.(175-177)GAC>GAT	p.D59D	TNN_uc010pmx.1_Silent_p.D59D	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	59					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TTCAGGTTGACGCTGACCCTC	0.597													T	175046731	C	T	175046731	2	4	5	1	0	0	0	0	0	0	0	1	16320	535	19	1		1	TNN	1	175046731	Silent	SNP	C	TCGA-BR-4187-01A-01D-1126-08	70926510	175046731	74203890	5	6683											
ASTN1	460	broad.mit.edu	37	chr1	176999973	176999973	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgatccgctttctctgGctgctggaggtgtgagagag	15	7	1	3			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr1:176999973G>A	uc001glc.2	-	4	1193	c.981C>T	c.(979-981)AGC>AGT	p.S327S	ASTN1_uc001glb.1_Silent_p.S327S|ASTN1_uc001gld.1_Silent_p.S327S|ASTN1_uc009wwx.1_Silent_p.S327S|ASTN1_uc001gle.3_RNA|MIR488_hsa-mir-488|MI0003123_5'Flank	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	327					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						GCTTTCTCTGGCTGCTGGAGG	0.473													A	176999973	G	A	176999973	2	1	5	1	0	0	0	0	0	0	0	1	1064	1194	42	2		2	ASTN1	1	176999973	Silent	SNP	G	TCGA-BR-4187-01A-01D-1126-08	1953242	176999973	72250648	6	6684											
USH2A	7399	broad.mit.edu	37	chr1	216073486	216073486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccattggaggcaaccaaccGaaacatatactctgtgtacg	8	11	1	0			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr1:216073486G>A	uc001hku.1	-	40	7912	c.7525C>T	c.(7525-7527)CGG>TGG	p.R2509W		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2509	Extracellular (Potential).|Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCAACCAACCGAAACATATAC	0.423										HNSCC(13;0.011)			A	216073486	G	A	216073486	3	1	5	1	0	0	0	0	1	0	0	0	17033	1057	37	1	8215	1	USH2A	1	216073486	Missense_Mutation	SNP	G	TCGA-BR-4187-01A-01D-1126-08	39073513	216073486	33177135	7	6685											
CHRM3	1131	broad.mit.edu	37	chr1	239549887	239549887	+	RNA	DEL	G	G	-													tacaccagctctctcagtccGgggaggaggaggagcaggag							TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr1:239549887delG	uc001hyo.1	+	1		c.23delG						P20309	ACM3_HUMAN	Homo sapiens clone N10 NTera2D1 teratocarcinoma, m3 muscarinic acetylcholine receptor mRNA, partial cds.						cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CTCTCAGTCCGGggaggagga	0.493													-	239549887	G	-	239549887	6	5	5	0	1	1	0	1	0	0	0	0	3378	1131	39	0		0	CHRM3	1	239549887	RNA	DEL	G	TCGA-BR-4187-01A-01D-1126-08	23476401	239549887	9700734	8	6686											
PLB1	151056	broad.mit.edu	37	chr2	28785965	28785965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccctgggtgactctctcaCggtaagtgaccctgatgcag	12	12	2	3			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr2:28785965C>T	uc002rmb.1	+	18	1205	c.1205C>T	c.(1204-1206)ACG>ATG	p.T402M	PLB1_uc010ezj.1_Missense_Mutation_p.T413M|PLB1_uc002rmc.2_Missense_Mutation_p.T90M	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	402	4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential).				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					GACTCTCTCACGGTAAGTGAC	0.502													T	28785965	C	T	28785965	3	4	5	1	0	0	0	0	1	0	0	0	12024	550	19	1	1308	1	PLB1	2	28785965	Missense_Mutation	SNP	C	TCGA-BR-4187-01A-01D-1126-08		28785965	214413408	9	6687											
MCM2	4171	broad.mit.edu	37	chr3	127340016	127340016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgacatatcagcgcaaccGctttggggcccagcaggaca	13	12	1	1			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr3:127340016G>A	uc003ejp.2	+	15	2606	c.2549G>A	c.(2548-2550)CGC>CAC	p.R850H	MCM2_uc011bkm.1_Missense_Mutation_p.R720H|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.R803H	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	850					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						CAGCGCAACCGCTTTGGGGCC	0.542													A	127340016	G	A	127340016	3	1	5	1	0	0	0	0	1	0	0	0	9386	1087	38	1	2607	1	MCM2	3	127340016	Missense_Mutation	SNP	G	TCGA-BR-4187-01A-01D-1126-08		127340016	70682414	10	6688											
SH3TC1	54436	broad.mit.edu	37	chr4	8235216	8235216	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattacatcttgcggcagagCgagctggtggacctctacat	11	10	2	1			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr4:8235216C>T	uc003gkv.3	+	14	3359	c.3258C>T	c.(3256-3258)AGC>AGT	p.S1086S	SH3TC1_uc003gkw.3_Silent_p.S1010S|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_RNA	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1086							binding			large_intestine(2)|pancreas(1)	3						TGCGGCAGAGCGAGCTGGTGG	0.527													T	8235216	C	T	8235216	2	4	5	1	0	0	0	0	0	0	0	1	14261	767	27	1		1	SH3TC1	4	8235216	Silent	SNP	C	TCGA-BR-4187-01A-01D-1126-08		8235216	182919060	11	6689											
PCDHA13	56136	broad.mit.edu	37	chr5	140263466	140263466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagttccaggtgagcgcgcGcgactctggcgtgccgcctc	15	15	1	1			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr5:140263466G>A	uc003lif.2	+	1	1613	c.1613G>A	c.(1612-1614)CGC>CAC	p.R538H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.R538H|PCDHA13_uc003lid.2_Missense_Mutation_p.R538H	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	538	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCGCGCGCGACTCTGGC	0.682													A	140263466	G	A	140263466	3	1	5	1	0	0	0	0	1	0	0	0	11523	1087	38	1	1615	1	PCDHA13	5	140263466	Missense_Mutation	SNP	G	TCGA-BR-4187-01A-01D-1126-08		140263466	40651794	12	6690											
OR2J3	442186	broad.mit.edu	37	chr6	29079853	29079853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccatctgcacacaccaatGtacttcttcctttcaaacct	2	16	3	0			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr6:29079853G>A	uc011dll.1	+	1	186	c.186G>A	c.(184-186)ATG>ATA	p.M62I		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J,	62	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ACACACCAATGTACTTCTTCC	0.458													A	29079853	G	A	29079853	3	1	5	1	0	0	0	0	1	0	0	0	11004	1377	48	4	188	4	OR2J3	6	29079853	Missense_Mutation	SNP	G	TCGA-BR-4187-01A-01D-1126-08		29079853	142035214	13	6691											
PPT2	9374	broad.mit.edu	37	chr6	32123534	32123534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggattctttcatctccctctCctctccacagatgggacagt	7	14	5	1			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr6:32123534C>T	uc003nzx.2	+	4	975	c.407C>T	c.(406-408)TCC>TTC	p.S136F	PRRT1_uc003nzu.2_5'Flank|uc003nzv.3_5'Flank|PPT2_uc003nzw.2_Missense_Mutation_p.S142F|PPT2_uc011dpi.1_RNA|PPT2_uc003nzy.1_RNA|PPT2_uc003nzz.2_Missense_Mutation_p.S136F|PPT2_uc003oaa.2_Missense_Mutation_p.S136F|PPT2_uc010jtu.1_Missense_Mutation_p.S136F	NM_005155	NP_005146	Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2 isoform a	136					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity				0						ATCTCCCTCTCCTCTCCACAG	0.527													T	32123534	C	T	32123534	3	4	5	1	0	0	0	0	1	0	0	0	12412	855	30	4	439	4	PPT2	6	32123534	Missense_Mutation	SNP	C	TCGA-BR-4187-01A-01D-1126-08	3043681	32123534	138991533	14	6692											
RPS6KA2	6196	broad.mit.edu	37	chr6	166844008	166844008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtcactggcttcgcgctccGagaagtatctctgccggagg	13	13	2	1	rs145694057		TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr6:166844008G>A	uc003qvb.1	-	16	1733	c.1514C>T	c.(1513-1515)TCG>TTG	p.S505L	RPS6KA2_uc011ego.1_Missense_Mutation_p.S416L|RPS6KA2_uc010kkl.1_Missense_Mutation_p.S416L|RPS6KA2_uc003qvc.1_Missense_Mutation_p.S513L|RPS6KA2_uc003qvd.1_Missense_Mutation_p.S530L	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	505	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TTCGCGCTCCGAGAAGTATCT	0.597													A	166844008	G	A	166844008	3	1	5	1	0	0	0	0	1	0	0	0	13651	1059	37	1	711	1	RPS6KA2	6	166844008	Missense_Mutation	SNP	G	TCGA-BR-4187-01A-01D-1126-08	134720474	166844008	4271059	15	6693											
LMTK2	22853	broad.mit.edu	37	chr7	97766742	97766742	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctgtaaggacccagaAatagactttaaggtgagcac	10	9	0	3			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr7:97766742A>C	uc003upd.1	+	2	512	c.219A>C	c.(217-219)GAA>GAC	p.E73D		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	73					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGGACCCAGAAATAGACTTTA	0.368													C	97766742	A	C	97766742	3	2	5	1	0	0	0	0	1	0	0	0	8859	11	1	5	225	5	LMTK2	7	97766742	Missense_Mutation	SNP	A	TCGA-BR-4187-01A-01D-1126-08		97766742	61371921	16	6694											
NUP205	23165	broad.mit.edu	37	chr7	135307616	135307616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccattattgaaagttatggCgccgccctcatggaagtggt	12	9	1	1	rs144174512		TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr7:135307616C>T	uc003vsw.2	+	31	4453	c.4422C>T	c.(4420-4422)GGC>GGT	p.G1474G	NUP205_uc003vsx.2_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1474					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						AAAGTTATGGCGCCGCCCTCA	0.398													T	135307616	C	T	135307616	2	4	5	1	0	0	0	0	0	0	0	1	10759	755	27	1		1	NUP205	7	135307616	Silent	SNP	C	TCGA-BR-4187-01A-01D-1126-08	37540874	135307616	23831047	17	6695											
AMAC1L2	83650	broad.mit.edu	37	chr8	11189042	11189042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcttccaccgtatgctccGctgtcctcaccctctgcctt	6	18	3	0	rs142654795	byFrequency	TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr8:11189042G>A	uc003wtp.1	+	1	548	c.427G>A	c.(427-429)GCT>ACT	p.A143T		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	acyl-malonyl condensing enzyme	143	DUF6 1.					integral to membrane					0			STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)		CGTATGCTCCGCTGTCCTCAC	0.582													A	11189042	G	A	11189042	3	1	5	1	0	0	0	0	1	0	0	0	560	1087	38	1	429	1	AMAC1L2	8	11189042	Missense_Mutation	SNP	G	TCGA-BR-4187-01A-01D-1126-08		11189042	135174980	18	6696											
TAF1L	138474	broad.mit.edu	37	chr9	32630718	32630718	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatactcagtaattgtctgGtaacagatgttcacaatctc	6	9	5	1			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr9:32630718G>A	uc003zrg.1	-	1	4950	c.4860C>T	c.(4858-4860)TAC>TAT	p.Y1620Y	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1620					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TAATTGTCTGGTAACAGATGT	0.393													A	32630718	G	A	32630718	2	1	5	1	0	0	0	0	0	0	0	1	15520	1256	44	4		4	TAF1L	9	32630718	Silent	SNP	G	TCGA-BR-4187-01A-01D-1126-08		32630718	108582713	19	6697											
FRMPD1	22844	broad.mit.edu	37	chr9	37711391	37711391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacagttgttcgctgcacgtCggtaaatctctttctatgtc	8	11	2	0			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr9:37711391C>T	uc004aag.1	+	5	451	c.407C>T	c.(406-408)TCG>TTG	p.S136L	FRMPD1_uc004aah.1_Missense_Mutation_p.S136L	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	136						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		CGCTGCACGTCGGTAAATCTC	0.438													T	37711391	C	T	37711391	3	4	5	1	0	0	0	0	1	0	0	0	6057	898	31	1	421	1	FRMPD1	9	37711391	Missense_Mutation	SNP	C	TCGA-BR-4187-01A-01D-1126-08	5080673	37711391	103502040	20	6698											
TNC	3371	broad.mit.edu	37	chr9	117808747	117808747	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttgcttattccatagagTtcaatttcgtattcagtagc	6	9	2	1			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr9:117808747T>G	uc004bjj.3	-	17	5429	c.5067A>C	c.(5065-5067)GAA>GAC	p.E1689D	TNC_uc010mvf.2_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1689	Fibronectin type-III 12.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						TTCCATAGAGTTCAATTTCGT	0.443													G	117808747	T	G	117808747	3	3	5	1	0	0	0	0	1	0	0	0	16267	1722	60	5	1586	5	TNC	9	117808747	Missense_Mutation	SNP	T	TCGA-BR-4187-01A-01D-1126-08	80097356	117808747	23404684	21	6699											
SOX6	55553	broad.mit.edu	37	chr11	15994601	15994601	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtgtggtagttgccatagtGatagcaccaggatacacaac	12	8	0	1			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr11:15994601G>A	uc001mme.2	-	16	2313	c.2280C>T	c.(2278-2280)ATC>ATT	p.I760I	SOX6_uc001mmd.2_Silent_p.I723I|SOX6_uc001mmf.2_Silent_p.I720I|SOX6_uc001mmg.2_Silent_p.I727I	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	747					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						TTGCCATAGTGATAGCACCAG	0.502													A	15994601	G	A	15994601	2	1	5	1	0	0	0	0	0	0	0	1	14955	1280	45	4		4	SOX6	11	15994601	Silent	SNP	G	TCGA-BR-4187-01A-01D-1126-08		15994601	119011915	22	6700											
RARG	5916	broad.mit.edu	37	chr12	53607425	53607425	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtccggttcagggtcagCccgtcggagaaggtcatggt	17	9	3	1			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr12:53607425C>T	uc001sce.2	-	8	1358	c.873G>A	c.(871-873)GGG>GGA	p.G291G	RARG_uc001scd.2_Silent_p.G280G|RARG_uc010sob.1_Silent_p.G269G|RARG_uc001scf.2_Silent_p.G291G|RARG_uc001scg.2_Silent_p.G219G|RARG_uc010soc.1_Silent_p.G170G|RARG_uc010sod.1_Silent_p.G328G	NM_000966	NP_000957	P13631	RARG_HUMAN	retinoic acid receptor, gamma isoform 1	291	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|ovary(1)|lung(1)	4					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TCAGGGTCAGCCCGTCGGAGA	0.612											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	53607425	C	T	53607425	2	4	5	1	0	0	0	0	0	0	0	1	13054	726	26	2		2	RARG	12	53607425	Silent	SNP	C	TCGA-BR-4187-01A-01D-1126-08		53607425	80244470	23	6701											
ZFC3H1	196441	broad.mit.edu	37	chr12	72023392	72023392	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttatatatgtacttactatGacctttactttcattgatat	3	7	1	2			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr12:72023392G>T	uc001swo.2	-	19	4182	c.3823C>A	c.(3823-3825)CAT>AAT	p.H1275N		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	1275					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						TACTTACTATGACCTTTACTT	0.264													T	72023392	G	T	72023392	3	4	5	1	0	0	0	0	1	0	0	0	17630	1290	45	5	2214	5	ZFC3H1	12	72023392	Missense_Mutation	SNP	G	TCGA-BR-4187-01A-01D-1126-08	18415967	72023392	61828503	24	6702											
WSCD2	9671	broad.mit.edu	37	chr12	108589947	108589947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctacggtggagcctggagccGagccctcaaggggagggttg	18	10	1	0			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr12:108589947G>A	uc001tms.2	+	2	1082	c.338G>A	c.(337-339)CGA>CAA	p.R113Q	WSCD2_uc001tmt.2_Missense_Mutation_p.R113Q	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	113						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						GCCTGGAGCCGAGCCCTCAAG	0.597													A	108589947	G	A	108589947	3	1	5	1	0	0	0	0	1	0	0	0	17404	1058	37	1	340	1	WSCD2	12	108589947	Missense_Mutation	SNP	G	TCGA-BR-4187-01A-01D-1126-08	36566555	108589947	25261948	25	6703											
CUL4A	8451	broad.mit.edu	37	chr13	113893752	113893752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tactgcacatctcagggctcGaccacttactggatgagaac	9	12	1	1			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr13:113893752G>A	uc010tjy.1	+	11	933	c.922G>A	c.(922-924)GAC>AAC	p.D308N	CUL4A_uc010tjx.1_Missense_Mutation_p.D208N|CUL4A_uc010agu.2_Missense_Mutation_p.D169N|CUL4A_uc010tjz.1_5'UTR	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	cullin 4A isoform 1	308					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			central_nervous_system(2)|skin(1)	3	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CTCAGGGCTCGACCACTTACT	0.557													A	113893752	G	A	113893752	3	1	5	1	0	0	0	0	1	0	0	0	4057	1058	37	1	960	1	CUL4A	13	113893752	Missense_Mutation	SNP	G	TCGA-BR-4187-01A-01D-1126-08		113893752	1276126	26	6704											
HDC	3067	broad.mit.edu	37	chr15	50540522	50540522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagagcgaaaccgtcggcTcagggggatctgccagtgct	14	11	2	1			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr15:50540522T>C	uc001zxz.2	-	10	1166	c.1060A>G	c.(1060-1062)AGC>GGC	p.S354G	HDC_uc001zxy.2_Missense_Mutation_p.S97G|HDC_uc010uff.1_Intron	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	354					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AACCGTCGGCTCAGGGGGATC	0.522													C	50540522	T	C	50540522	3	2	5	1	0	0	0	0	1	0	0	0	7015	1551	54	3	940	3	HDC	15	50540522	Missense_Mutation	SNP	T	TCGA-BR-4187-01A-01D-1126-08		50540522	51990870	27	6705											
RGS11	8786	broad.mit.edu	37	chr16	321028	321028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaagtgggcccgccccaCggggtcctccaggagctccc	13	17	0	1			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr16:321028C>T	uc002cgj.1	-	13	937	c.934G>A	c.(934-936)GTG>ATG	p.V312M	RGS11_uc002cgi.1_Missense_Mutation_p.V291M|RGS11_uc010bqs.1_Missense_Mutation_p.V301M|RGS11_uc002cgk.1_Missense_Mutation_p.V128M	NM_183337	NP_899180	O94810	RGS11_HUMAN	regulator of G-protein signalling 11 isoform 1	312	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			lung(1)|pancreas(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCCCGCCCCACGGGGTCCTCC	0.682													T	321028	C	T	321028	3	4	5	1	0	0	0	0	1	0	0	0	13294	536	19	1	489	1	RGS11	16	321028	Missense_Mutation	SNP	C	TCGA-BR-4187-01A-01D-1126-08		321028	90033725	28	6706											
GRIN2A	2903	broad.mit.edu	37	chr16	9862888	9862888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggctgctcatcacctcGttcttctcgttgtggcagat	10	12	4	1			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr16:9862888G>A	uc002czo.3	-	12	2963	c.2415C>T	c.(2413-2415)AAC>AAT	p.N805N	GRIN2A_uc010uym.1_Silent_p.N805N|GRIN2A_uc010uyn.1_Silent_p.N648N|GRIN2A_uc002czr.3_Silent_p.N805N	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	805	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCATCACCTCGTTCTTCTCGT	0.552													A	9862888	G	A	9862888	2	1	5	1	0	0	0	0	0	0	0	1	6779	1136	40	1		1	GRIN2A	16	9862888	Silent	SNP	G	TCGA-BR-4187-01A-01D-1126-08	9541860	9862888	80491865	29	6707											
OTOA	146183	broad.mit.edu	37	chr16	21726384	21726384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccttctgcagcatgaaaCgcaaggacatctcgcaggtc	11	12	2	1			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr16:21726384C>T	uc002djh.2	+	13	1400	c.1399C>T	c.(1399-1401)CGC>TGC	p.R467C	uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.R388C|OTOA_uc002dji.2_Missense_Mutation_p.R143C|OTOA_uc010vbk.1_Missense_Mutation_p.R115C	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	481					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		CAGCATGAAACGCAAGGACAT	0.582													T	21726384	C	T	21726384	3	4	5	1	0	0	0	0	1	0	0	0	11302	536	19	1	1495	1	OTOA	16	21726384	Missense_Mutation	SNP	C	TCGA-BR-4187-01A-01D-1126-08	11863496	21726384	68628369	30	6708											
SPNS1	83985	broad.mit.edu	37	chr16	28993708	28993708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcatcacctgcctgaccGgagtcctgggtgtgggcctg	14	13	2	1			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr16:28993708G>A	uc010vdi.1	+	9	1137	c.997G>A	c.(997-999)GGA>AGA	p.G333R	uc010vct.1_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.G260R|SPNS1_uc002dsa.2_Missense_Mutation_p.G333R|SPNS1_uc002drz.2_Missense_Mutation_p.G281R|SPNS1_uc010byp.2_Missense_Mutation_p.G259R|SPNS1_uc010byq.1_Missense_Mutation_p.G265R|LAT_uc010vdj.1_5'Flank|LAT_uc002dsb.2_5'Flank|LAT_uc002dsd.2_5'Flank|LAT_uc002dsc.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 isoform 1	333	Helical; (Potential).				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding				0						CTGCCTGACCGGAGTCCTGGG	0.652													A	28993708	G	A	28993708	3	1	5	1	0	0	0	0	1	0	0	0	15073	1117	39	1	1027	1	SPNS1	16	28993708	Missense_Mutation	SNP	G	TCGA-BR-4187-01A-01D-1126-08	7267324	28993708	61361045	31	6709											
BCKDK	10295	broad.mit.edu	37	chr16	31122413	31122413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcgctcctatccgcagaCgcctgtgtgagcacaagtat	9	15	0	2			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr16:31122413C>T	uc002eaw.3	+	9	1034	c.718C>T	c.(718-720)CGC>TGC	p.R240C	BCKDK_uc002eav.3_Missense_Mutation_p.R240C|BCKDK_uc010cah.2_RNA|BCKDK_uc010cai.2_Missense_Mutation_p.R240C	NM_005881	NP_005872	O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	240	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			stomach(1)|breast(1)	2						TATCCGCAGACGCCTGTGTGA	0.433													T	31122413	C	T	31122413	3	4	5	1	0	0	0	0	1	0	0	0	1361	550	19	1	748	1	BCKDK	16	31122413	Missense_Mutation	SNP	C	TCGA-BR-4187-01A-01D-1126-08	2128705	31122413	59232340	32	6710											
CDH1	999	broad.mit.edu	37	chr16	68842723	68842725	+	In_Frame_Del	DEL	TGG	TGG	-													gctgaaggtgacagagcctcTggatagagaacgcattgcca							TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr16:68842722_68842724CTGG>C	uc002ewg.1	+	4	782_784	c.658_660CTGG>C	c.(658-660)ctg>C	p.L220del	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_In_Frame_Del_p.L220del	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	220	Cadherin 1.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GACAGAGCCTCTGGATAGAGAAC	0.473			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				-	68842725	TGG	-	68842723	7	5	5	1	0	1	0	1	0	0	0	0	3095	1580	55	0	677	0	CDH1	16	68842723	In_Frame_Del	DEL	TGG	TCGA-BR-4187-01A-01D-1126-08	37720310	68842723	21512030	33	6711											
KRT37	8688	broad.mit.edu	37	chr17	39580071	39580071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatttgtacaatcagcctgGcattctcagccttgctgcac	7	13	2	0			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr17:39580071G>A	uc002hwp.1	-	2	565	c.518C>T	c.(517-519)GCC>GTC	p.A173V	uc002hwo.1_RNA	NM_003770	NP_003761	O76014	KRT37_HUMAN	keratin 37	173	Rod.|Coil 1B.					intermediate filament	structural molecule activity			skin(1)	1		Breast(137;0.000496)				AATCAGCCTGGCATTCTCAGC	0.403													A	39580071	G	A	39580071	3	1	5	1	0	0	0	0	1	0	0	0	8474	1203	42	2	855	2	KRT37	17	39580071	Missense_Mutation	SNP	G	TCGA-BR-4187-01A-01D-1126-08		39580071	41615139	34	6712											
NLRP5	126206	broad.mit.edu	37	chr19	56539525	56539525	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgtttggcctcgtgagCgaagacgtaaggaggccact	13	9	1	2			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr19:56539525C>T	uc002qmj.2	+	7	1926	c.1926C>T	c.(1924-1926)AGC>AGT	p.S642S	NLRP5_uc002qmi.2_Silent_p.S623S	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	642						mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCCTCGTGAGCGAAGACGTAA	0.557													T	56539525	C	T	56539525	2	4	5	1	0	0	0	0	0	0	0	1	10480	767	27	1		1	NLRP5	19	56539525	Silent	SNP	C	TCGA-BR-4187-01A-01D-1126-08		56539525	2589458	35	6713											
KRTAP10-10	353333	broad.mit.edu	37	chr21	46057679	46057679	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtaacaagcctgtgtgcttCgtgcctacctgctccgagtc	10	13	0	0			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chr21:46057679C>T	uc002zfq.2	+	1	407	c.345C>T	c.(343-345)TTC>TTT	p.F115F	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	keratin associated protein 10-10	115	15 X 5 AA repeats of C-C-X(3).					keratin filament					0						ctgtgtgcttcgtgcctacct	0.343													T	46057679	C	T	46057679	2	4	5	1	0	0	0	0	0	0	0	1	8506	883	31	1		1	KRTAP10-10	21	46057679	Silent	SNP	C	TCGA-BR-4187-01A-01D-1126-08		46057679	2072216	36	6714											
SLC9A6	10479	broad.mit.edu	37	chrX	135084305	135084305	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccacgagcttcaagttgatGttgaactctatgcacttctt	7	10	3	2			TCGA-BR-4187-01A-01D-1126-08	TCGA-BR-4187-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b45eb56-8286-4094-8bff-d0cf5c05cda9	30a6f1ff-df78-470a-b645-0e46c00252d8	g.chrX:135084305G>T	uc004ezj.2	+	6	812	c.736G>T	c.(736-738)GTT>TTT	p.V246F	SLC9A6_uc004ezk.2_Missense_Mutation_p.V278F|SLC9A6_uc011mvx.1_Missense_Mutation_p.V226F	NM_006359	NP_006350	Q92581	SL9A6_HUMAN	solute carrier family 9 (sodium/hydrogen	246	Helical; (Potential).				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					TCAAGTTGATGTTGAACTCTA	0.353													T	135084305	G	T	135084305	3	4	5	1	0	0	0	0	1	0	0	0	14718	1377	48	5	854	5	SLC9A6	23	135084305	Missense_Mutation	SNP	G	TCGA-BR-4187-01A-01D-1126-08		135084305	20186255	37	6715											
ARID1A	8289	broad.mit.edu	37	chr1	27106498	27106499	+	Frame_Shift_Ins	INS	-	-	C													ttatgaaaaggaggaggaacINSaggaccaaggggtgagctgc							TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr1:27106497_27106498A>AC	uc001bmv.1	+	19	6481_6482	c.6108_6109A>AC	c.(6106-6111)gaacagfs	p.E2036fs	ARID1A_uc001bmu.1_Frame_Shift_Ins_p.E1819fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.E882fs|ARID1A_uc009vsm.1_Frame_Shift_Ins_p.E364fs|ARID1A_uc009vsn.1_Frame_Shift_Ins_p.E278fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2036					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Q2037*(2)|p.E2036*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGGAGGAGGAACAGGACCAAGG	0.564			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								C	27106499	-	C	27106498	7	5	6	1	0	1	1	0	0	0	0	0	913	479	17	0	6187	0	ARID1A	1	27106498	Frame_Shift_Ins	INS	-	TCGA-BR-4188-01A-01D-1126-08		27106498	222144123	1	6716											
RASAL2	9462	broad.mit.edu	37	chr1	178426964	178426964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtagccttcctaatggtcGgagcgtctccctcatggacc	10	13	2	0			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr1:178426964G>A	uc001glr.2	+	12	2239	c.2114G>A	c.(2113-2115)CGG>CAG	p.R705Q	RASAL2_uc001glq.2_Missense_Mutation_p.R846Q|RASAL2_uc009wxc.2_Missense_Mutation_p.R219Q	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	705					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						CCTAATGGTCGGAGCGTCTCC	0.493													A	178426964	G	A	178426964	3	1	6	1	0	0	0	0	1	0	0	0	13064	1116	39	1	2629	1	RASAL2	1	178426964	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	151320466	178426964	70823657	2	6717											
HMCN1	83872	broad.mit.edu	37	chr1	186092180	186092180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggcctccctccgcctgaCattacatggcataaagatgg	10	12	0	2			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr1:186092180C>T	uc001grq.1	+	81	12556	c.12327C>T	c.(12325-12327)GAC>GAT	p.D4109D		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4109	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CTCCGCCTGACATTACATGGC	0.502													T	186092180	C	T	186092180	2	4	6	1	0	0	0	0	0	0	0	1	7220	477	17	4		4	HMCN1	1	186092180	Silent	SNP	C	TCGA-BR-4188-01A-01D-1126-08	7665216	186092180	63158441	3	6718											
NID1	4811	broad.mit.edu	37	chr1	236205258	236205258	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctatgacctgagggtgctGctggtgaaaagtctccactg	12	9	2	3			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr1:236205258G>T	uc001hxo.2	-	4	1189	c.1087C>A	c.(1087-1089)CAG>AAG	p.Q363K	NID1_uc009xgd.2_Missense_Mutation_p.Q363K	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	363					cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TGAGGGTGCTGCTGGTGAAAA	0.542													T	236205258	G	T	236205258	3	4	6	1	0	0	0	0	1	0	0	0	10414	1328	46	5	2724	5	NID1	1	236205258	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	50113078	236205258	13045363	4	6719											
LTBP1	4052	broad.mit.edu	37	chr2	33572560	33572560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccatgactgggcagtgccGctcccggacctccacaggta	11	17	0	1	rs139673362		TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr2:33572560G>A	uc002ros.2	+	26	3986	c.3986G>A	c.(3985-3987)CGC>CAC	p.R1329H	LTBP1_uc002rot.2_Missense_Mutation_p.R1003H|LTBP1_uc002rou.2_Missense_Mutation_p.R1002H|LTBP1_uc002rov.2_Missense_Mutation_p.R949H|LTBP1_uc010ymz.1_Missense_Mutation_p.R960H|LTBP1_uc010yna.1_Missense_Mutation_p.R907H|LTBP1_uc010ynb.1_Missense_Mutation_p.R226H	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1328	EGF-like 14; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGGCAGTGCCGCTCCCGGACC	0.567													A	33572560	G	A	33572560	3	1	6	1	0	0	0	0	1	0	0	0	9073	1087	38	1	4140	1	LTBP1	2	33572560	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08		33572560	209626813	5	6720											
LHCGR	3973	broad.mit.edu	37	chr2	48915521	48915521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcttttggtccaggtgaAtagcataggtgatggtgtgc	15	6	0	2			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr2:48915521A>G	uc002rwu.3	-	11	1485	c.1415T>C	c.(1414-1416)ATT>ACT	p.I472T	GTF2A1L_uc002rwt.2_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	472	Cytoplasmic (Potential).				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|lung(2)|breast(2)|skin(1)	8		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GTCCAGGTGAATAGCATAGGT	0.463									Familial_Male-Limited_Precocious_Puberty				G	48915521	A	G	48915521	3	3	6	1	0	0	0	0	1	0	0	0	8762	101	4	3	688	3	LHCGR	2	48915521	Missense_Mutation	SNP	A	TCGA-BR-4188-01A-01D-1126-08	15342961	48915521	194283852	6	6721											
LRRTM1	347730	broad.mit.edu	37	chr2	80529646	80529646	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaaggagaagatgagggcCatggtgcccgtgaccacctt	15	9	0	4			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr2:80529646C>A	uc002sok.1	-	2	1569	c.1299G>T	c.(1297-1299)ATG>ATT	p.M433I	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	433	Helical; (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						AGATGAGGGCCATGGTGCCCG	0.627										HNSCC(69;0.2)			A	80529646	C	A	80529646	3	1	6	1	0	0	0	0	1	0	0	0	9039	594	21	5	273	5	LRRTM1	2	80529646	Missense_Mutation	SNP	C	TCGA-BR-4188-01A-01D-1126-08	31614125	80529646	162669727	7	6722											
CTNNA2	1496	broad.mit.edu	37	chr2	80835315	80835315	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttaatgttttatagtgtcctGattcagcatgtaagcaggat	9	5	1	1			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr2:80835315G>T	uc010ysh.1	+	16	2307	c.2302G>T	c.(2302-2304)GAT>TAT	p.D768Y	CTNNA2_uc010yse.1_Missense_Mutation_p.D768Y|CTNNA2_uc010ysf.1_Missense_Mutation_p.D768Y|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysi.1_Missense_Mutation_p.D400Y|CTNNA2_uc010ysj.1_Missense_Mutation_p.D97Y	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	768					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						ATAGTGTCCTGATTCAGCATG	0.368													T	80835315	G	T	80835315	3	4	6	1	0	0	0	0	1	0	0	0	4013	1290	45	5	2156	5	CTNNA2	2	80835315	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	305669	80835315	162364058	8	6723											
RAPGEF4	11069	broad.mit.edu	37	chr2	173679118	173679118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagagcagtgaactgctcCgcatcgagcagaaggacttc	14	10	0	3			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr2:173679118C>T	uc002uhv.3	+	4	596	c.409C>T	c.(409-411)CGC>TGC	p.R137C	RAPGEF4_uc002uhu.2_Missense_Mutation_p.R137C|RAPGEF4_uc010fqn.2_Missense_Mutation_p.R120C	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	137	cAMP 1.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TGAACTGCTCCGCATCGAGCA	0.522													T	173679118	C	T	173679118	3	4	6	1	0	0	0	0	1	0	0	0	13046	652	23	1	423	1	RAPGEF4	2	173679118	Missense_Mutation	SNP	C	TCGA-BR-4188-01A-01D-1126-08	92843803	173679118	69520255	9	6724											
TTN	7273	broad.mit.edu	37	chr2	179429737	179429737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattctaaactggtactccGtgcctgttttcagtttggtt	8	8	2	0			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr2:179429737G>A	uc010zfg.1	-	275	73642	c.73418C>T	c.(73417-73419)ACG>ATG	p.T24473M	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T18168M|TTN_uc010zfi.1_Missense_Mutation_p.T18101M|TTN_uc010zfj.1_Missense_Mutation_p.T17976M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25400							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTACTCCGTGCCTGTTTT	0.393													A	179429737	G	A	179429737	3	1	6	1	0	0	0	0	1	0	0	0	16732	1145	40	1	27005	1	TTN	2	179429737	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	5750619	179429737	63769636	10	6725											
ANKRD44	91526	broad.mit.edu	37	chr2	197878392	197878392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgtccaggtccaccaaCgactgcagaaggacttccaa	9	13	0	2			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr2:197878392C>T	uc002uua.1	-	18	1769	c.1692G>A	c.(1690-1692)TCG>TCA	p.S564S	ANKRD44_uc002utz.3_Silent_p.S296S	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	589	ANK 17.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GGTCCACCAACGACTGCAGAA	0.532													T	197878392	C	T	197878392	2	4	6	1	0	0	0	0	0	0	0	1	672	523	19	1		1	ANKRD44	2	197878392	Silent	SNP	C	TCGA-BR-4188-01A-01D-1126-08	18448655	197878392	45320981	11	6726											
C2orf80	389073	broad.mit.edu	37	chr2	209047703	209047703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttacagttcctcccactcCagccaagttaagtcttctga	5	14	2	1			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr2:209047703C>T	uc002vcr.2	-	4	364	c.192G>A	c.(190-192)CTG>CTA	p.L64L		NM_001099334	NP_001092804	Q0P641	CB080_HUMAN	hypothetical protein LOC389073	64										skin(1)	1						CCTCCCACTCCAGCCAAGTTA	0.453													T	209047703	C	T	209047703	2	4	6	1	0	0	0	0	0	0	0	1	2197	581	21	4		4	C2orf80	2	209047703	Silent	SNP	C	TCGA-BR-4188-01A-01D-1126-08	11169311	209047703	34151670	12	6727											
C3orf20	84077	broad.mit.edu	37	chr3	14731512	14731512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccactccagagtccctcGcaaacatgtccgccattggg	8	17	0	1			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr3:14731512G>A	uc003byy.2	+	5	1038	c.634G>A	c.(634-636)GCA>ACA	p.A212T	C3orf20_uc003byz.2_Missense_Mutation_p.A90T|C3orf20_uc003bza.2_Missense_Mutation_p.A90T|C3orf20_uc003byx.1_Missense_Mutation_p.A212T	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	212						cytoplasm|integral to membrane				ovary(3)|skin(1)	4						AGAGTCCCTCGCAAACATGTC	0.433													A	14731512	G	A	14731512	3	1	6	1	0	0	0	0	1	0	0	0	2213	1087	38	1	644	1	C3orf20	3	14731512	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08		14731512	183290918	13	6728											
CTNNB1	1499	broad.mit.edu	37	chr3	41277254	41277254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatagttgaaggttgtaccGgagcccttcacatcctagct	9	10	1	1			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr3:41277254G>A	uc010hia.1	+	12	1879	c.1723G>A	c.(1723-1725)GGA>AGA	p.G575R	CTNNB1_uc003ckp.2_Missense_Mutation_p.G575R|CTNNB1_uc003ckq.2_Missense_Mutation_p.G575R|CTNNB1_uc003ckr.2_Missense_Mutation_p.G575R|CTNNB1_uc011azf.1_Missense_Mutation_p.G568R|CTNNB1_uc011azg.1_Missense_Mutation_p.G503R|CTNNB1_uc003cks.2_3'UTR|CTNNB1_uc003ckt.1_Missense_Mutation_p.G10R	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	575					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	AGGTTGTACCGGAGCCCTTCA	0.433		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				A	41277254	G	A	41277254	3	1	6	1	0	0	0	0	1	0	0	0	4016	1117	39	1	1761	1	CTNNB1	3	41277254	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	26545742	41277254	156745176	14	6729											
NBEAL2	23218	broad.mit.edu	37	chr3	47049627	47049627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcatggggctgcagtgaGctgtgtggccatcagcactg	17	9	1	1			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr3:47049627G>A	uc003cqp.2	+	50	7849	c.7670G>A	c.(7669-7671)AGC>AAC	p.S2557N	NBEAL2_uc010hjm.1_Missense_Mutation_p.S1934N|NBEAL2_uc010hjn.1_Missense_Mutation_p.S923N|NBEAL2_uc010hjo.1_Missense_Mutation_p.S117N	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2557	WD 4.						binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCTGCAGTGAGCTGTGTGGCC	0.592													A	47049627	G	A	47049627	3	1	6	1	0	0	0	0	1	0	0	0	10189	971	34	2	7868	2	NBEAL2	3	47049627	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	5772373	47049627	150972803	15	6730											
RHOA	387	broad.mit.edu	37	chr3	49412898	49412898	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcgatatctgccacaTagttctcaaacactgtgggc	7	14	2	0			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr3:49412898T>C	uc003cwu.2	-	2	401	c.125A>G	c.(124-126)TAT>TGT	p.Y42C	RHOA_uc010hku.2_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	42	Effector region (Potential).				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	ATCTGCCACATAGTTCTCAAA	0.433													C	49412898	T	C	49412898	3	2	6	1	0	0	0	0	1	0	0	0	13331	1406	49	3	472	3	RHOA	3	49412898	Missense_Mutation	SNP	T	TCGA-BR-4188-01A-01D-1126-08	2363271	49412898	148609532	16	6731											
LRIG1	26018	broad.mit.edu	37	chr3	66457882	66457882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcggccaggctctcctcGtccagccgtgtcaggttgtt	12	14	2	0			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr3:66457882G>A	uc003dmx.2	-	8	983	c.969C>T	c.(967-969)GAC>GAT	p.D323D	LRIG1_uc003dmw.2_5'Flank|LRIG1_uc010hnz.2_Silent_p.D63D|LRIG1_uc010hoa.2_Silent_p.D323D	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	323	Extracellular (Potential).|LRR 11.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGCTCTCCTCGTCCAGCCGTG	0.612											OREG0015662	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	66457882	G	A	66457882	2	1	6	1	0	0	0	0	0	0	0	1	8944	1136	40	1		1	LRIG1	3	66457882	Silent	SNP	G	TCGA-BR-4188-01A-01D-1126-08	17044984	66457882	131564548	17	6732											
KLHL24	54800	broad.mit.edu	37	chr3	183368716	183368716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaaatgcaaaaattttgCgttacagacttttgaggatg	8	6	0	2			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr3:183368716C>T	uc003flv.2	+	3	867	c.572C>T	c.(571-573)GCG>GTG	p.A191V	KLHL24_uc003flw.2_Missense_Mutation_p.A191V|KLHL24_uc003flx.2_Missense_Mutation_p.A191V	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	191	BACK.					axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AAAAATTTTGCGTTACAGACT	0.368													T	183368716	C	T	183368716	3	4	6	1	0	0	0	0	1	0	0	0	8379	768	27	1	574	1	KLHL24	3	183368716	Missense_Mutation	SNP	C	TCGA-BR-4188-01A-01D-1126-08	116910834	183368716	14653714	18	6733											
ECE2	9718	broad.mit.edu	37	chr3	184005662	184005662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagacctgcatctccaacaCggatgacgcccttggctttg	10	14	1	2			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr3:184005662C>T	uc003fni.3	+	11	1693	c.1655C>T	c.(1654-1656)ACG>ATG	p.T552M	ECE2_uc011brh.1_Missense_Mutation_p.T405M|ECE2_uc003fnl.3_Missense_Mutation_p.T480M|ECE2_uc003fnm.3_Missense_Mutation_p.T434M|ECE2_uc003fnk.3_Missense_Mutation_p.T405M|ECE2_uc011bri.1_Missense_Mutation_p.T467M|ECE2_uc010hxv.2_Missense_Mutation_p.T196M	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	552	Lumenal (Potential).|Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCTCCAACACGGATGACGCC	0.527													T	184005662	C	T	184005662	3	4	6	1	0	0	0	0	1	0	0	0	4890	536	19	1	2261	1	ECE2	3	184005662	Missense_Mutation	SNP	C	TCGA-BR-4188-01A-01D-1126-08	636946	184005662	14016768	19	6734											
PCYT1A	5130	broad.mit.edu	37	chr3	195974306	195974306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccacctcatccacgtagcGgcagtgctggactgcgtcat	10	15	2	0			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr3:195974306G>A	uc003fwg.2	-	6	591	c.418C>T	c.(418-420)CGC>TGC	p.R140C	PCYT1A_uc003fwh.2_Missense_Mutation_p.R140C	NM_005017	NP_005008	P49585	PCY1A_HUMAN	choline phosphate cytidylyltransferase 1 alpha	140	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity				0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	TCCACGTAGCGGCAGTGCTGG	0.537													A	195974306	G	A	195974306	3	1	6	1	0	0	0	0	1	0	0	0	11610	1116	39	1	705	1	PCYT1A	3	195974306	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	11968644	195974306	2048124	20	6735											
ADAMTS3	9508	broad.mit.edu	37	chr4	73164020	73164020	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cacagggtttggaacactgaGaccagctcttcaaagcccac	9	13	2	1			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr4:73164020G>C	uc003hgk.1	-	18	2601	c.2564C>G	c.(2563-2565)TCT>TGT	p.S855C	ADAMTS3_uc003hgl.2_Missense_Mutation_p.S196C	NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	855	TSP type-1 2.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGAACACTGAGACCAGCTCTT	0.363													C	73164020	G	C	73164020	3	2	6	1	0	0	0	0	1	0	0	0	267	942	33	5	1073	5	ADAMTS3	4	73164020	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08		73164020	117990256	21	6736											
PRKG2	5593	broad.mit.edu	37	chr4	82125924	82125924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatctggagaggcctgaagcGggcttcctccctgcatatgc	12	12	1	2	rs147037183	byFrequency	TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr4:82125924G>A	uc003hmh.2	-	1	292	c.278C>T	c.(277-279)CCG>CTG	p.P93L	PRKG2_uc011cch.1_Missense_Mutation_p.P93L	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	93					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						GGCCTGAAGCGGGCTTCCTCC	0.557													A	82125924	G	A	82125924	3	1	6	1	0	0	0	0	1	0	0	0	12523	1116	39	1	2082	1	PRKG2	4	82125924	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	8961904	82125924	109028352	22	6737											
TACR3	6870	broad.mit.edu	37	chr4	104640553	104640553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgccactgccaccaccaCaccatacgccagggaccaga	7	18	0	1			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr4:104640553C>T	uc003hxe.1	-	1	423	c.280G>A	c.(280-282)GTG>ATG	p.V94M		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	94	Helical; Name=1; (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GCCACCACCACACCATACGCC	0.612													T	104640553	C	T	104640553	3	4	6	1	0	0	0	0	1	0	0	0	15504	478	17	4	1137	4	TACR3	4	104640553	Missense_Mutation	SNP	C	TCGA-BR-4188-01A-01D-1126-08	22514629	104640553	86513723	23	6738											
PCDH10	57575	broad.mit.edu	37	chr4	134072680	134072680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaacgacaacgcgccgcGtttcagccagccggtctacg	12	14	2	1			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr4:134072680G>A	uc003iha.2	+	1	2211	c.1385G>A	c.(1384-1386)CGT>CAT	p.R462H	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R462H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	462	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		AACGCGCCGCGTTTCAGCCAG	0.617													A	134072680	G	A	134072680	3	1	6	1	0	0	0	0	1	0	0	0	11507	1145	40	1	1387	1	PCDH10	4	134072680	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	29432127	134072680	57081596	24	6739											
DNAH5	1767	broad.mit.edu	37	chr5	13776589	13776589	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccatcggctgaaccagtcaAttgtgcatcctgaaattagg	10	10	1	2			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr5:13776589A>G	uc003jfd.2	-	55	9374	c.9332T>C	c.(9331-9333)ATT>ACT	p.I3111T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3111	AAA 4 (By similarity).				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)					GAACCAGTCAATTGTGCATCC	0.453									Kartagener_syndrome				G	13776589	A	G	13776589	3	3	6	1	0	0	0	0	1	0	0	0	4604	101	4	3	4642	3	DNAH5	5	13776589	Missense_Mutation	SNP	A	TCGA-BR-4188-01A-01D-1126-08		13776589	167138671	25	6740											
DMXL1	1657	broad.mit.edu	37	chr5	118469231	118469231	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagtagctttccccacaggtGatgcaaactctctctgtaaa	7	12	2	1			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr5:118469231G>A	uc003ksd.2	+	12	1793	c.1612G>A	c.(1612-1614)GAT>AAT	p.D538N	DMXL1_uc010jcl.1_Missense_Mutation_p.D538N|DMXL1_uc003ksc.1_Missense_Mutation_p.D538N	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	538										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CCCCACAGGTGATGCAAACTC	0.393													A	118469231	G	A	118469231	3	1	6	1	0	0	0	0	1	0	0	0	4594	1290	45	4	1658	4	DMXL1	5	118469231	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	104692642	118469231	62446029	26	6741											
PCDHAC1	56135	broad.mit.edu	37	chr5	140307641	140307641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcccttttcagctgacGgcttcctttgacaactacta	8	13	1	2			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr5:140307641G>A	uc003lih.2	+	1	1340	c.1164G>A	c.(1162-1164)ACG>ACA	p.T388T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Silent_p.T388T	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	388	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAGCTGACGGCTTCCTTTG	0.507													A	140307641	G	A	140307641	2	1	6	1	0	0	0	0	0	0	0	1	11532	1103	39	1		1	PCDHAC1	5	140307641	Silent	SNP	G	TCGA-BR-4188-01A-01D-1126-08	21838410	140307641	40607619	27	6742											
PCDHB16	57717	broad.mit.edu	37	chr5	140564164	140564164	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctgccgctcccagaggcggCccccggccagacccaggcca	12	21	0	2			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr5:140564164C>G	uc003liv.2	+	1	3185	c.2030C>G	c.(2029-2031)GCC>GGC	p.A677G	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	677	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGAGGCGGCCCCCGGCCAG	0.682													G	140564164	C	G	140564164	3	3	6	1	0	0	0	0	1	0	0	0	11541	739	26	5	2032	5	PCDHB16	5	140564164	Missense_Mutation	SNP	C	TCGA-BR-4188-01A-01D-1126-08	256523	140564164	40351096	28	6743											
GCM2	9247	broad.mit.edu	37	chr6	10876693	10876693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacctgaaaaaagatcgcGttgccatcaagccgccaaaa	7	13	1	2			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr6:10876693G>A	uc003mzn.3	-	3	513	c.441C>T	c.(439-441)AAC>AAT	p.N147N	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	glial cells missing homolog 2	147	GCM.				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				AAAAGATCGCGTTGCCATCAA	0.498													A	10876693	G	A	10876693	2	1	6	1	0	0	0	0	0	0	0	1	6298	1136	40	1		1	GCM2	6	10876693	Silent	SNP	G	TCGA-BR-4188-01A-01D-1126-08		10876693	160238374	29	6744											
THEMIS	387357	broad.mit.edu	37	chr6	128134866	128134866	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtactttttgtggatcacaAtggttttcccaggctgtaaa	10	7	1	0			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr6:128134866A>G	uc003qbi.2	-	5	1239	c.920T>C	c.(919-921)ATT>ACT	p.I307T	THEMIS_uc010kfa.2_Missense_Mutation_p.I210T|THEMIS_uc011ebt.1_Missense_Mutation_p.I307T|THEMIS_uc010kfb.2_Missense_Mutation_p.I272T	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	307	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4						GTGGATCACAATGGTTTTCCC	0.408													G	128134866	A	G	128134866	3	3	6	1	0	0	0	0	1	0	0	0	15857	101	4	3	1138	3	THEMIS	6	128134866	Missense_Mutation	SNP	A	TCGA-BR-4188-01A-01D-1126-08	117258173	128134866	42980201	30	6745											
GRM1	2911	broad.mit.edu	37	chr6	146755675	146755675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaagctcctccaggagtacGtgtatgagcacgagcgggaa	13	9	0	1			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr6:146755675G>A	uc010khw.1	+	9	3798	c.3328G>A	c.(3328-3330)GTG>ATG	p.V1110M	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1110	Asp/Glu-rich (acidic).|Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCAGGAGTACGTGTATGAGCA	0.627													A	146755675	G	A	146755675	3	1	6	1	0	0	0	0	1	0	0	0	6796	1145	40	1	3423	1	GRM1	6	146755675	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	18620809	146755675	24359392	31	6746											
ESR1	2099	broad.mit.edu	37	chr6	152265479	152265479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctggccttgtccctgaCggccgaccagatggtcagtg	13	14	1	2			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr6:152265479C>T	uc003qom.3	+	6	1302	c.932C>T	c.(931-933)ACG>ATG	p.T311M	ESR1_uc010kin.2_Missense_Mutation_p.T311M|ESR1_uc010kio.2_Missense_Mutation_p.T313M|ESR1_uc010kip.2_Missense_Mutation_p.T310M|ESR1_uc003qon.3_Missense_Mutation_p.T311M|ESR1_uc003qoo.3_Missense_Mutation_p.T311M|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Intron|ESR1_uc011eex.1_Missense_Mutation_p.T92M|ESR1_uc010kit.1_Missense_Mutation_p.T48M|ESR1_uc011eey.1_Missense_Mutation_p.T48M	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	estrogen receptor alpha isoform 4	311	Steroid-binding.|Interaction with AKAP13.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	TTGTCCCTGACGGCCGACCAG	0.557													T	152265479	C	T	152265479	3	4	6	1	0	0	0	0	1	0	0	0	5256	536	19	1	946	1	ESR1	6	152265479	Missense_Mutation	SNP	C	TCGA-BR-4188-01A-01D-1126-08	5509804	152265479	18849588	32	6747											
RABL5	64792	broad.mit.edu	37	chr7	100959744	100959744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacatctccatttccttccGgtggcttgggatgtcagcat	9	13	2	0	rs140464086	byFrequency	TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr7:100959744G>A	uc003uyl.2	-	4	389	c.286C>T	c.(286-288)CGG>TGG	p.R96W	RABL5_uc011kkk.1_Missense_Mutation_p.R19W|RABL5_uc011kkl.1_Missense_Mutation_p.R19W|RABL5_uc003uym.2_Missense_Mutation_p.R66W|RABL5_uc010lhw.2_RNA|RABL5_uc011kkm.1_Missense_Mutation_p.R96W	NM_022777	NP_073614	Q9H7X7	RABL5_HUMAN	RAB, member RAS oncogene family-like 5 isoform	96							GTP binding				0	Lung NSC(181;0.215)					ATTTCCTTCCGGTGGCTTGGG	0.517													A	100959744	G	A	100959744	3	1	6	1	0	0	0	0	1	0	0	0	12973	1115	39	1	279	1	RABL5	7	100959744	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08		100959744	58178919	33	6748											
NEFL	4747	broad.mit.edu	37	chr8	24811294	24811294	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactgagtcgggtctcctcGccttccaagagtttcctggg	11	12	1	2			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr8:24811294G>A	uc003xee.2	-	3	1287	c.1185C>T	c.(1183-1185)GGC>GGT	p.G395G		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	395	Rod.|Coil 2B.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGGTCTCCTCGCCTTCCAAGA	0.527													A	24811294	G	A	24811294	2	1	6	1	0	0	0	0	0	0	0	1	10315	1074	38	1		1	NEFL	8	24811294	Silent	SNP	G	TCGA-BR-4188-01A-01D-1126-08		24811294	121552728	34	6749											
KCNV1	27012	broad.mit.edu	37	chr8	110986297	110986297	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacatatcggaacgcctgCgagctgcggtcgaagaagta	14	9	0	1			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr8:110986297C>T	uc003ynr.3	-	1	663	c.321G>A	c.(319-321)TCG>TCA	p.S107S	KCNV1_uc010mcw.2_Silent_p.S107S	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	107	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGAACGCCTGCGAGCTGCGGT	0.662													T	110986297	C	T	110986297	2	4	6	1	0	0	0	0	0	0	0	1	8094	755	27	1		1	KCNV1	8	110986297	Silent	SNP	C	TCGA-BR-4188-01A-01D-1126-08	86175003	110986297	35377725	35	6750											
CSMD3	114788	broad.mit.edu	37	chr8	113564865	113564865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaatcatccacatgcaaCgcaggttattgtcatatgga	7	11	3	0			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr8:113564865C>T	uc003ynu.2	-	26	4478	c.4319G>A	c.(4318-4320)CGT>CAT	p.R1440H	CSMD3_uc003yns.2_Missense_Mutation_p.R712H|CSMD3_uc003ynt.2_Missense_Mutation_p.R1400H|CSMD3_uc011lhx.1_Missense_Mutation_p.R1336H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1440	Extracellular (Potential).|CUB 8.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCACATGCAACGCAGGTTATT	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113564865	C	T	113564865	3	4	6	1	0	0	0	0	1	0	0	0	3946	536	19	1	6988	1	CSMD3	8	113564865	Missense_Mutation	SNP	C	TCGA-BR-4188-01A-01D-1126-08	2578568	113564865	32799157	36	6751											
ZHX2	22882	broad.mit.edu	37	chr8	123965143	123965143	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttctccagagccagttccctGacgatgccgaggtttaccgg	11	13	1	2			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr8:123965143G>T	uc003ypk.1	+	3	1960	c.1393G>T	c.(1393-1395)GAC>TAC	p.D465Y		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	465	Required for interaction with NFYA.|Homeobox 2.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCAGTTCCCTGACGATGCCGA	0.572													T	123965143	G	T	123965143	3	4	6	1	0	0	0	0	1	0	0	0	17673	1290	45	5	1395	5	ZHX2	8	123965143	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	10400278	123965143	22398879	37	6752											
TMEFF1	8577	broad.mit.edu	37	chr9	103279048	103279048	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatgaagatgcagaaaaTgttgggtgagttggttgagg	17	1	0	6			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr9:103279048T>C	uc004baz.1	+	5	665	c.555T>C	c.(553-555)AAT>AAC	p.N185N	TMEFF1_uc004bay.1_Silent_p.N259N	NM_003692	NP_003683	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two	185	Kazal-like 2.|Extracellular (Potential).				multicellular organismal development	integral to membrane|plasma membrane					0		Acute lymphoblastic leukemia(62;0.0452)				ATGCAGAAAATGTTGGGTGAG	0.398													C	103279048	T	C	103279048	2	2	6	1	0	0	0	0	0	0	0	1	16010	1461	51	3		3	TMEFF1	9	103279048	Silent	SNP	T	TCGA-BR-4188-01A-01D-1126-08		103279048	37934383	38	6753											
TNC	3371	broad.mit.edu	37	chr9	117849383	117849383	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcctcgcccgtgaagccGtcgtcacagatgcactgccc	10	17	1	2	rs138151398		TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr9:117849383G>A	uc004bjj.3	-	3	989	c.627C>T	c.(625-627)GAC>GAT	p.D209D	TNC_uc010mvf.2_Silent_p.D209D	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	209	EGF-like 2.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CCGTGAAGCCGTCGTCACAGA	0.602													A	117849383	G	A	117849383	2	1	6	1	0	0	0	0	0	0	0	1	16267	1136	40	1		1	TNC	9	117849383	Silent	SNP	G	TCGA-BR-4188-01A-01D-1126-08	14570335	117849383	23364048	39	6754											
ZNF79	7633	broad.mit.edu	37	chr9	130206310	130206310	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcatttttttttcaggcTggaagattatatctggatca	7	5	4	1			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr9:130206310T>C	uc004bqw.3	+	5	745	c.331T>C	c.(331-333)TGG>CGG	p.W111R	ZNF79_uc011maf.1_Missense_Mutation_p.W87R|ZNF79_uc011mag.1_Missense_Mutation_p.W87R	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	zinc finger protein 79	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						TTTTTCAGGCTGGAAGATTAT	0.483													C	130206310	T	C	130206310	3	2	6	1	0	0	0	0	1	0	0	0	18158	1580	55	3	349	3	ZNF79	9	130206310	Missense_Mutation	SNP	T	TCGA-BR-4188-01A-01D-1126-08	12356927	130206310	11007121	40	6755											
GRID1	2894	broad.mit.edu	37	chr10	88123850	88123850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgttctcctcgaagatgGcacctggaggagagaaggga	15	10	1	2			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr10:88123850G>A	uc001kdl.1	-	2	184	c.83C>T	c.(82-84)GCC>GTC	p.A28V	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	28	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	CTCGAAGATGGCACCTGGAGG	0.602										Multiple Myeloma(13;0.14)			A	88123850	G	A	88123850	3	1	6	1	0	0	0	0	1	0	0	0	6771	1203	42	2	3006	2	GRID1	10	88123850	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08		88123850	47410897	41	6756											
TACC2	10579	broad.mit.edu	37	chr10	123976316	123976316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctgtccacctttgtaaacGagaccaaattcagttcaccc	5	14	2	1			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr10:123976316G>A	uc001lfv.2	+	11	7879	c.7519G>A	c.(7519-7521)GAG>AAG	p.E2507K	TACC2_uc001lfw.2_Missense_Mutation_p.E653K|TACC2_uc009xzx.2_Missense_Mutation_p.E2462K|TACC2_uc010qtv.1_Missense_Mutation_p.E2511K|TACC2_uc001lfx.2_Missense_Mutation_p.E211K|TACC2_uc001lfy.2_Missense_Mutation_p.E207K|TACC2_uc001lfz.2_Missense_Mutation_p.E585K|TACC2_uc001lga.2_Missense_Mutation_p.E585K|TACC2_uc009xzy.2_Missense_Mutation_p.E597K|TACC2_uc001lgb.2_Missense_Mutation_p.E542K|TACC2_uc010qtw.1_Missense_Mutation_p.E602K	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2507						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTTGTAAACGAGACCAAATT	0.582													A	123976316	G	A	123976316	3	1	6	1	0	0	0	0	1	0	0	0	15499	1059	37	1	7629	1	TACC2	10	123976316	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	35852466	123976316	11558431	42	6757											
DMBT1	1755	broad.mit.edu	37	chr10	124402642	124402642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgttctcttccagatgcGtgagggatgacacctacgga	11	10	1	3			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr10:124402642G>A	uc001lgk.1	+	53	7076	c.6970G>A	c.(6970-6972)GTG>ATG	p.V2324M	DMBT1_uc001lgl.1_Missense_Mutation_p.V2314M|DMBT1_uc001lgm.1_Missense_Mutation_p.V1696M|DMBT1_uc009xzz.1_Missense_Mutation_p.V2323M|DMBT1_uc010qtx.1_Missense_Mutation_p.V1044M|DMBT1_uc009yab.1_Missense_Mutation_p.V1027M|DMBT1_uc009yac.1_Missense_Mutation_p.V618M	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2324	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTCCAGATGCGTGAGGGATGA	0.567													A	124402642	G	A	124402642	3	1	6	1	0	0	0	0	1	0	0	0	4577	1145	40	1	7180	1	DMBT1	10	124402642	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	426326	124402642	11132105	43	6758											
OR5L1	219437	broad.mit.edu	37	chr11	55579431	55579431	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgattcatttgtgcttagcTcttaggatccccttctatag	7	10	3	1			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr11:55579431T>C	uc001nhw.1	+	1	489	c.489T>C	c.(487-489)GCT>GCC	p.A163A		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	163	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)				TGTGCTTAGCTCTTAGGATCC	0.443													C	55579431	T	C	55579431	2	2	6	1	0	0	0	0	0	0	0	1	11170	1538	54	3		3	OR5L1	11	55579431	Silent	SNP	T	TCGA-BR-4188-01A-01D-1126-08		55579431	79427085	44	6759											
RSF1	51773	broad.mit.edu	37	chr11	77386245	77386245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgtcatcattagatggcGgatcttcttcactttcatct	6	11	7	1	rs149460903	by1000genomes	TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr11:77386245G>A	uc001oyn.2	-	14	3518	c.3398C>T	c.(3397-3399)CCG>CTG	p.P1133L	RSF1_uc001oym.2_Missense_Mutation_p.P881L	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1133					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			ATTAGATGGCGGATCTTCTTC	0.448													A	77386245	G	A	77386245	3	1	6	1	0	0	0	0	1	0	0	0	13699	1116	39	1	939	1	RSF1	11	77386245	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	21806814	77386245	57620271	45	6760											
KCNA1	3736	broad.mit.edu	37	chr12	5021267	5021267	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagctggtggtgcgcttcttCgcctgccccagcaagacgga	14	13	1	1	rs147731985		TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr12:5021267C>T	uc001qnh.2	+	2	1828	c.723C>T	c.(721-723)TTC>TTT	p.F241F		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	241	Helical; Name=Segment S2; (Potential).				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.F241F(1)		ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGCGCTTCTTCGCCTGCCCCA	0.493													T	5021267	C	T	5021267	2	4	6	1	0	0	0	0	0	0	0	1	8001	883	31	1		1	KCNA1	12	5021267	Silent	SNP	C	TCGA-BR-4188-01A-01D-1126-08		5021267	128830628	46	6761											
PEX5	5830	broad.mit.edu	37	chr12	7361645	7361645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcttcctggcagctgtgcGgctggaccctacctccattg	11	15	1	0			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr12:7361645G>A	uc009zfu.1	+	15	2019	c.1439G>A	c.(1438-1440)CGG>CAG	p.R480Q	PEX5_uc001qsw.2_Missense_Mutation_p.R480Q|PEX5_uc010sgc.1_Missense_Mutation_p.R495Q|PEX5_uc001qsu.2_Missense_Mutation_p.R443Q|PEX5_uc010sgd.1_Missense_Mutation_p.R501Q|PEX5_uc001qsv.2_Missense_Mutation_p.R472Q	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5 isoform d	480	TPR 4.				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			ovary(1)	1						GCAGCTGTGCGGCTGGACCCT	0.502													A	7361645	G	A	7361645	3	1	6	1	0	0	0	0	1	0	0	0	11748	1116	39	1	1534	1	PEX5	12	7361645	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	2340378	7361645	126490250	47	6762											
PLXNC1	10154	broad.mit.edu	37	chr12	94654549	94654549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgaaactcatgctgagacGcacggagtccgtcgtcgaaa	12	12	1	1			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr12:94654549G>A	uc001tdc.2	+	20	3632	c.3383G>A	c.(3382-3384)CGC>CAC	p.R1128H	PLXNC1_uc010sut.1_Missense_Mutation_p.R175H|PLXNC1_uc009zsv.2_5'Flank	NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	1128	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						ATGCTGAGACGCACGGAGTCC	0.522													A	94654549	G	A	94654549	3	1	6	1	0	0	0	0	1	0	0	0	12126	1087	38	1	3461	1	PLXNC1	12	94654549	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	87292904	94654549	39197346	48	6763											
NBEA	26960	broad.mit.edu	37	chr13	36241608	36241608	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcttgatatctgtctccagCgaaggccactgtatcatata	8	11	3	1			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr13:36241608C>T	uc001uvb.2	+	56	8705	c.8499C>T	c.(8497-8499)AGC>AGT	p.S2833S	NBEA_uc010abi.2_Silent_p.S1491S|NBEA_uc010tef.1_Silent_p.S626S|NBEA_uc001uvd.2_Silent_p.S411S	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2833						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTGTCTCCAGCGAAGGCCACT	0.468													T	36241608	C	T	36241608	2	4	6	1	0	0	0	0	0	0	0	1	10187	767	27	1		1	NBEA	13	36241608	Silent	SNP	C	TCGA-BR-4188-01A-01D-1126-08		36241608	78928270	49	6764											
MYCBP2	23077	broad.mit.edu	37	chr13	77780921	77780921	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctggcatcagcaaccacCgcattgtaacaccacagctc	7	16	1	0			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr13:77780921C>T	uc001vkf.2	-	25	3433	c.3342G>A	c.(3340-3342)GCG>GCA	p.A1114A	MYCBP2_uc010aev.2_Silent_p.A518A	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAGCAACCACCGCATTGTAAC	0.428													T	77780921	C	T	77780921	2	4	6	1	0	0	0	0	0	0	0	1	10018	639	23	1		1	MYCBP2	13	77780921	Silent	SNP	C	TCGA-BR-4188-01A-01D-1126-08	41539313	77780921	37388957	50	6765											
PPP2R5C	5527	broad.mit.edu	37	chr14	102349871	102349871	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggcttgagagcttacatcAgaaaacagataaataatata	7	5	1	3			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr14:102349871A>G	uc001yko.2	+	5	741	c.601A>G	c.(601-603)AGA>GGA	p.R201G	PPP2R5C_uc010txr.1_Missense_Mutation_p.R232G|PPP2R5C_uc001ykk.2_Missense_Mutation_p.R256G|PPP2R5C_uc010txt.1_Missense_Mutation_p.R191G|PPP2R5C_uc001ykn.2_Missense_Mutation_p.R201G|PPP2R5C_uc001ykp.2_Missense_Mutation_p.R201G|PPP2R5C_uc001ykq.2_Missense_Mutation_p.R99G|uc001ykr.1_5'Flank	NM_002719	NP_002710	Q13362	2A5G_HUMAN	gamma isoform of regulatory subunit B56, protein	201					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity			ovary(1)|breast(1)	2						AGCTTACATCAGAAAACAGAT	0.433													G	102349871	A	G	102349871	3	3	6	1	0	0	0	0	1	0	0	0	12394	180	7	3	988	3	PPP2R5C	14	102349871	Missense_Mutation	SNP	A	TCGA-BR-4188-01A-01D-1126-08		102349871	4999669	51	6766											
UNC45A	55898	broad.mit.edu	37	chr15	91491480	91491480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagagtttgtggaggatgcGgctgctctgaaagctctgtt	15	6	2	2	rs139418696	by1000genomes	TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr15:91491480G>A	uc002bqg.2	+	12	2044	c.1704G>A	c.(1702-1704)GCG>GCA	p.A568A	UNC45A_uc002bqd.2_Silent_p.A553A|UNC45A_uc010uqr.1_5'UTR|UNC45A_uc002bqi.2_5'Flank	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform	568					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TGGAGGATGCGGCTGCTCTGA	0.582													A	91491480	G	A	91491480	2	1	6	1	0	0	0	0	0	0	0	1	16985	1103	39	1		1	UNC45A	15	91491480	Silent	SNP	G	TCGA-BR-4188-01A-01D-1126-08		91491480	11039912	52	6767											
HS3ST2	9956	broad.mit.edu	37	chr16	22926408	22926408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcggaaccctgtgacccGtgccatctctgattacacgc	10	14	1	2			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr16:22926408G>A	uc002dli.2	+	2	701	c.629G>A	c.(628-630)CGT>CAT	p.R210H	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	210	PAPS and substrate (By similarity).|Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		CCTGTGACCCGTGCCATCTCT	0.587													A	22926408	G	A	22926408	3	1	6	1	0	0	0	0	1	0	0	0	7364	1145	40	1	635	1	HS3ST2	16	22926408	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08		22926408	67428345	53	6768											
SALL1	6299	broad.mit.edu	37	chr16	51174297	51174297	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcagagtggacccttcGgcttcctctgggagcccacc	14	14	1	1			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr16:51174297G>A	uc010vgs.1	-	2	1867	c.1836C>T	c.(1834-1836)GCC>GCT	p.A612A	SALL1_uc010vgr.1_Silent_p.A515A|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	612					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGACCCTTCGGCTTCCTCTG	0.622													A	51174297	G	A	51174297	2	1	6	1	0	0	0	0	0	0	0	1	13810	1103	39	1		1	SALL1	16	51174297	Silent	SNP	G	TCGA-BR-4188-01A-01D-1126-08	28247889	51174297	39180456	54	6769											
CDH1	999	broad.mit.edu	37	chr16	68842699	68842699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tattattgaaagagaaacagGatggctgaaggtgacagagc	13	4	0	5			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr16:68842699G>A	uc002ewg.1	+	5	759	c.635G>A	c.(634-636)GGA>GAA	p.G212E	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.G212E	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	212	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AGAGAAACAGGATGGCTGAAG	0.463			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				A	68842699	G	A	68842699	3	1	6	1	0	0	0	0	1	0	0	0	3095	1174	41	4	653	4	CDH1	16	68842699	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	17668402	68842699	21512054	55	6770											
VAT1L	57687	broad.mit.edu	37	chr16	77918562	77918562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggagaacaaagtcatcGcggggttttcccttttaaat	10	7	1	2			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr16:77918562G>A	uc002ffg.1	+	7	1037	c.940G>A	c.(940-942)GCG>ACG	p.A314T		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport protein 1 homolog (T.	314							oxidoreductase activity|zinc ion binding			central_nervous_system(1)	1						CAAAGTCATCGCGGGGTTTTC	0.502													A	77918562	G	A	77918562	3	1	6	1	0	0	0	0	1	0	0	0	17127	1087	38	1	966	1	VAT1L	16	77918562	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	9075863	77918562	12436191	56	6771											
DNAH9	1770	broad.mit.edu	37	chr17	11651040	11651040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcagtcacaaatgatgaGctctttggcatcatcaatcc	7	10	4	2			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr17:11651040G>A	uc002gne.2	+	32	6635	c.6567G>A	c.(6565-6567)GAG>GAA	p.E2189E	DNAH9_uc010coo.2_Silent_p.E1483E	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2189	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAATGATGAGCTCTTTGGCA	0.527													A	11651040	G	A	11651040	2	1	6	1	0	0	0	0	0	0	0	1	4608	962	34	2		2	DNAH9	17	11651040	Silent	SNP	G	TCGA-BR-4188-01A-01D-1126-08		11651040	69544170	57	6772											
MYO1D	4642	broad.mit.edu	37	chr17	30932222	30932222	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcgtatggaacactacaAgttggtcctttccattggag	9	9	0	0			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr17:30932222A>G	uc002hho.1	-	21	2759	c.2747T>C	c.(2746-2748)CTT>CCT	p.L916P	MYO1D_uc002hhp.1_Missense_Mutation_p.L916P	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	916						myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GAACACTACAAGTTGGTCCTT	0.403													G	30932222	A	G	30932222	3	3	6	1	0	0	0	0	1	0	0	0	10071	72	3	3	281	3	MYO1D	17	30932222	Missense_Mutation	SNP	A	TCGA-BR-4188-01A-01D-1126-08	19281182	30932222	50262988	58	6773											
KRT16	3868	broad.mit.edu	37	chr17	39767374	39767374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttttctctgccatctgctCgtactggtcacgcatctcat	7	13	4	0			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr17:39767374C>T	uc002hxg.3	-	4	1019	c.880G>A	c.(880-882)GAG>AAG	p.E294K	JUP_uc010wfs.1_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	294	Rod.|Coil 2.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			skin(1)	1		Breast(137;0.000307)				GCCATCTGCTCGTACTGGTCA	0.617													T	39767374	C	T	39767374	3	4	6	1	0	0	0	0	1	0	0	0	8453	893	31	1	561	1	KRT16	17	39767374	Missense_Mutation	SNP	C	TCGA-BR-4188-01A-01D-1126-08	8835152	39767374	41427836	59	6774											
OSBPL7	114881	broad.mit.edu	37	chr17	45894030	45894030	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagactccaggtagcgagacAggttgggaacagagccatgg	16	8	0	3			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr17:45894030A>T	uc002ilx.1	-	10	1030	c.827T>A	c.(826-828)CTG>CAG	p.L276Q	OSBPL7_uc002ilw.1_5'UTR	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	276					lipid transport		lipid binding				0						GTAGCGAGACAGGTTGGGAAC	0.647													T	45894030	A	T	45894030	3	4	6	1	0	0	0	0	1	0	0	0	11282	188	7	5	1757	5	OSBPL7	17	45894030	Missense_Mutation	SNP	A	TCGA-BR-4188-01A-01D-1126-08	6126656	45894030	35301180	60	6775											
PPM1D	8493	broad.mit.edu	37	chr17	58740624	58740625	+	Frame_Shift_Ins	INS	-	-	A													acaaacactgtcatggaccaINSaaaaaatttgaagatgtcaa							TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr17:58740623_58740624C>CA	uc002iyt.2	+	5	1760_1761	c.1528_1529C>CA	c.(1528-1530)caafs	p.Q510fs	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	510					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.N512fs*2(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TGTCATGGACCAAAAAAATTTG	0.376											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	A	58740625	-	A	58740624	7	5	6	1	0	1	1	0	0	0	0	0	12337	130	5	0	1551	0	PPM1D	17	58740624	Frame_Shift_Ins	INS	-	TCGA-BR-4188-01A-01D-1126-08	12846594	58740624	22454586	61	6776											
TANC2	26115	broad.mit.edu	37	chr17	61498701	61498701	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttcgcttctctccatctagCaatagtatctcctccacctc	3	17	3	0			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr17:61498701C>G	uc002jal.3	+	25	5381	c.5358C>G	c.(5356-5358)AGC>AGG	p.S1786R	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Missense_Mutation_p.S897R	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1786							binding			ovary(2)	2						CTCCATCTAGCAATAGTATCT	0.517													G	61498701	C	G	61498701	3	3	6	1	0	0	0	0	1	0	0	0	15542	709	25	5	5456	5	TANC2	17	61498701	Missense_Mutation	SNP	C	TCGA-BR-4188-01A-01D-1126-08	2758077	61498701	19696509	62	6777											
CD7	924	broad.mit.edu	37	chr17	80274701	80274701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccccggaaccgtctgtccGtagtgggcaccaccccgtcc	12	18	1	0			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr17:80274701G>A	uc002kel.1	-	2	348	c.239C>T	c.(238-240)ACG>ATG	p.T80M	CD7_uc010din.2_Missense_Mutation_p.T80M|CD7_uc002kem.2_Silent_p.Y61Y|CD7_uc010wvk.1_Missense_Mutation_p.T80M	NM_006137	NP_006128	P09564	CD7_HUMAN	CD7 antigen precursor	80	Ig-like.|Extracellular (Probable).				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity				0	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CCGTCTGTCCGTAGTGGGCAC	0.637													A	80274701	G	A	80274701	3	1	6	1	0	0	0	0	1	0	0	0	3032	1145	40	1	495	1	CD7	17	80274701	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	18776000	80274701	920509	63	6778											
MALT1	10892	broad.mit.edu	37	chr18	56376637	56376637	+	Missense_Mutation	SNP	A	A	C													tgatggcgtctctgaatccaAgttgcaaatctgtgttgaac					rs149988025		TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr18:56376637A>C	uc002lhm.1	+	5	935	c.677A>C	c.(676-678)AAG>ACG	p.K226T	MALT1_uc002lhn.1_Missense_Mutation_p.K226T	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma	226	Ig-like C2-type 2.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			ovary(2)|lung(1)|central_nervous_system(1)	4						TCTGAATCCAAGTTGCAAATC	0.358			T	BIRC3	MALT								C	56376637	A	C	56376637	3	2	6	1	0	0	0	0	1	0	0	0	9202	72	3	5	695	5	MALT1	18	56376637	Missense_Mutation	SNP	A	TCGA-BR-4188-01A-01D-1126-08		56376637	21700611	64	6779	14	2									
MALT1	10892	broad.mit.edu	37	chr18	56376642	56376642	+	Nonsense_Mutation	SNP	C	C	T													gcgtctctgaatccaagttgCaaatctgtgttgaaccaact							TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr18:56376642C>T	uc002lhm.1	+	5	940	c.682C>T	c.(682-684)CAA>TAA	p.Q228*	MALT1_uc002lhn.1_Nonsense_Mutation_p.Q228*	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma	228	Ig-like C2-type 2.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			ovary(2)|lung(1)|central_nervous_system(1)	4						ATCCAAGTTGCAAATCTGTGT	0.358			T	BIRC3	MALT								T	56376642	C	T	56376642	4	4	6	1	0	0	0	0	0	1	0	0	9202	711	25	2	700	2	MALT1	18	56376642	Nonsense_Mutation	SNP	C	TCGA-BR-4188-01A-01D-1126-08	5	56376642	21700606	65	6780	14	2									
RLN3	117579	broad.mit.edu	37	chr19	14139122	14139122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacggggtcaggctttgcGgccgagaattcatccgagca	13	11	2	1	rs141631429		TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr19:14139122G>A	uc002mxw.1	+	1	106	c.106G>A	c.(106-108)GGC>AGC	p.G36S	RLN3_uc010dzj.1_Missense_Mutation_p.G36S	NM_080864	NP_543140	Q8WXF3	REL3_HUMAN	relaxin 3 preproprotein	36						extracellular region	hormone activity				0						CAGGCTTTGCGGCCGAGAATT	0.662													A	14139122	G	A	14139122	3	1	6	1	0	0	0	0	1	0	0	0	13393	1116	39	1	108	1	RLN3	19	14139122	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08		14139122	44989861	66	6781											
MLL4	9757	broad.mit.edu	37	chr19	36221615	36221615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccacatgccaggtgctccCgtctgtactggagcacagtg	11	14	1	0			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr19:36221615C>T	uc010eei.2	+	27	5284	c.5284C>T	c.(5284-5286)CGT>TGT	p.R1762C		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1762	FYR N-terminal.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGGTGCTCCCGTCTGTACTG	0.612													T	36221615	C	T	36221615	3	4	6	1	0	0	0	0	1	0	0	0	9623	652	23	1	5386	1	MLL4	19	36221615	Missense_Mutation	SNP	C	TCGA-BR-4188-01A-01D-1126-08	22082493	36221615	22907368	67	6782											
PSG8	440533	broad.mit.edu	37	chr19	43262204	43262204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggcactcactgggttcCgtatttcacattcatagggt	11	10	3	0	rs139399276	byFrequency	TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr19:43262204C>T	uc002ouo.2	-	3	757	c.659G>A	c.(658-660)CGG>CAG	p.R220Q	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.R59Q|PSG8_uc002ouh.2_Missense_Mutation_p.R220Q|PSG8_uc010ein.2_Missense_Mutation_p.R98Q|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Missense_Mutation_p.R59Q|PSG8_uc002oul.3_Missense_Mutation_p.R220Q|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8 isoform	220	Ig-like C2-type 1.					extracellular region					0		Prostate(69;0.00899)				CACTGGGTTCCGTATTTCACA	0.507													T	43262204	C	T	43262204	3	4	6	1	0	0	0	0	1	0	0	0	12661	652	23	1	654	1	PSG8	19	43262204	Missense_Mutation	SNP	C	TCGA-BR-4188-01A-01D-1126-08	7040589	43262204	15866779	68	6783											
CRX	1406	broad.mit.edu	37	chr19	48343048	48343048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccctctctggcccctccGtgggaccttccctggcccag	10	21	1	0	rs61748459	byFrequency	TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr19:48343048G>A	uc002phq.3	+	4	928	c.724G>A	c.(724-726)GTG>ATG	p.V242M		NM_000554	NP_000545	O43186	CRX_HUMAN	cone-rod homeobox protein	242			V -> M (in CORD2).		organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TGGCCCCTCCGTGGGACCTTC	0.652													A	48343048	G	A	48343048	3	1	6	1	0	0	0	0	1	0	0	0	3902	1145	40	1	734	1	CRX	19	48343048	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	5080844	48343048	10785935	69	6784											
AURKC	6795	broad.mit.edu	37	chr19	57743416	57743416	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcaggcggcgcctcacagtCgatgactttgaaatcgggcg	14	11	2	2			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr19:57743416C>T	uc002qoe.2	+	3	309	c.120C>T	c.(118-120)GTC>GTT	p.V40V	AURKC_uc002qoc.2_Silent_p.V21V|AURKC_uc002qod.2_Silent_p.V6V|AURKC_uc010etv.2_Silent_p.V37V	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	40					cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		GCCTCACAGTCGATGACTTTG	0.562													T	57743416	C	T	57743416	2	4	6	1	0	0	0	0	0	0	0	1	1224	871	31	1		1	AURKC	19	57743416	Silent	SNP	C	TCGA-BR-4188-01A-01D-1126-08	9400368	57743416	1385567	70	6785											
TTLL9	164395	broad.mit.edu	37	chr20	30521649	30521649	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaaaacatctcccgactaCcacccaaagaaggtgaggaa	7	12	1	2			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr20:30521649C>T	uc010gdx.1	+	11	1048	c.795C>T	c.(793-795)TAC>TAT	p.Y265Y	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Silent_p.Y167Y|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	265	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTCCCGACTACCACCCAAAGA	0.612													T	30521649	C	T	30521649	2	4	6	1	0	0	0	0	0	0	0	1	16731	518	18	4		4	TTLL9	20	30521649	Silent	SNP	C	TCGA-BR-4188-01A-01D-1126-08		30521649	32503871	71	6786											
TIAM1	7074	broad.mit.edu	37	chr21	32492758	32492758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatgacttcctcgcttgcGctctccaggcctccattgat	7	15	1	2			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr21:32492758G>A	uc002yow.1	-	29	5176	c.4704C>T	c.(4702-4704)AGC>AGT	p.S1568S	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Silent_p.S1508S	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1568					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CCTCGCTTGCGCTCTCCAGGC	0.577													A	32492758	G	A	32492758	2	1	6	1	0	0	0	0	0	0	0	1	15887	1078	38	1		1	TIAM1	21	32492758	Silent	SNP	G	TCGA-BR-4188-01A-01D-1126-08		32492758	15637137	72	6787											
PDE9A	5152	broad.mit.edu	37	chr21	44151921	44151921	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacaagccgtggccagtctGctgagagaccactgagggac	13	13	1	3			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr21:44151921G>T	uc002zbm.2	+	5	367	c.304G>T	c.(304-306)GCT>TCT	p.A102S	PDE9A_uc002zbn.2_Intron|PDE9A_uc002zbo.2_Intron|PDE9A_uc002zbp.2_5'UTR|PDE9A_uc002zbq.2_Intron|PDE9A_uc002zbs.2_Intron|PDE9A_uc002zbr.2_Intron|PDE9A_uc002zbt.2_Intron|PDE9A_uc002zbu.2_Intron|PDE9A_uc002zbv.2_Intron|PDE9A_uc002zbw.2_Intron|PDE9A_uc002zbx.2_Intron|PDE9A_uc002zby.2_Intron|PDE9A_uc002zbz.2_Intron|PDE9A_uc002zca.2_Missense_Mutation_p.A61S|PDE9A_uc002zcb.2_Missense_Mutation_p.A76S|PDE9A_uc002zcc.2_Intron|PDE9A_uc002zcd.2_Intron|PDE9A_uc002zce.2_Missense_Mutation_p.A35S|PDE9A_uc002zcf.2_5'UTR|PDE9A_uc002zcg.2_Intron|PDE9A_uc002zch.2_5'UTR	NM_002606	NP_002597	O76083	PDE9A_HUMAN	phosphodiesterase 9A isoform a	102					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|skin(1)	2						TGGCCAGTCTGCTGAGAGACC	0.567													T	44151921	G	T	44151921	3	4	6	1	0	0	0	0	1	0	0	0	11655	1319	46	5	402	5	PDE9A	21	44151921	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	11659163	44151921	3977974	73	6788											
AGPAT3	56894	broad.mit.edu	37	chr21	45390580	45390580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcacggagaccaagcaccGcgttagcatggaggtggcgg	15	11	1	1			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr21:45390580G>A	uc002zdv.2	+	6	779	c.557G>A	c.(556-558)CGC>CAC	p.R186H	AGPAT3_uc002zdw.2_Missense_Mutation_p.R186H|AGPAT3_uc002zdx.2_Missense_Mutation_p.R273H|AGPAT3_uc002zdy.2_Missense_Mutation_p.R124H	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	186	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		ACCAAGCACCGCGTTAGCATG	0.622													A	45390580	G	A	45390580	3	1	6	1	0	0	0	0	1	0	0	0	388	1087	38	1	571	1	AGPAT3	21	45390580	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	1238659	45390580	2739315	74	6789											
HIRA	7290	broad.mit.edu	37	chr22	19349416	19349416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctgctctccaggaggtctCggggcctcagctctttcaca	11	14	5	0			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr22:19349416C>T	uc002zpf.1	-	16	2034	c.1814G>A	c.(1813-1815)CGA>CAA	p.R605Q	HIRA_uc011agx.1_Missense_Mutation_p.R471Q|HIRA_uc010grn.1_Intron|HIRA_uc010gro.1_Missense_Mutation_p.R561Q|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	605	Interaction with CCNA1.|Interaction with PAX3 (By similarity).|Interaction with histone H2B.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					CAGGAGGTCTCGGGGCCTCAG	0.378													T	19349416	C	T	19349416	3	4	6	1	0	0	0	0	1	0	0	0	7120	884	31	1	1279	1	HIRA	22	19349416	Missense_Mutation	SNP	C	TCGA-BR-4188-01A-01D-1126-08		19349416	31955150	75	6790											
PLA2G3	50487	broad.mit.edu	37	chr22	31536082	31536082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcagtctcatgagcacAgagagcaccgtaggctgcgg	14	12	1	2			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr22:31536082A>G	uc003aka.2	-	1	388	c.259T>C	c.(259-261)TGT>CGT	p.C87R		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	87					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0						TCATGAGCACAGAGAGCACCG	0.642													G	31536082	A	G	31536082	3	3	6	1	0	0	0	0	1	0	0	0	12000	188	7	3	1298	3	PLA2G3	22	31536082	Missense_Mutation	SNP	A	TCGA-BR-4188-01A-01D-1126-08	12186666	31536082	19768484	76	6791											
AKAP4	8852	broad.mit.edu	37	chrX	49958235	49958235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatcaaatcggacacaatctCcttggtgtgccttagcaaca	7	11	2	0			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chrX:49958235C>T	uc004dow.1	-	5	1253	c.1129G>A	c.(1129-1131)GAG>AAG	p.E377K	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.E199K|AKAP4_uc004dou.1_Missense_Mutation_p.E368K	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	377					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					GACACAATCTCCTTGGTGTGC	0.463													T	49958235	C	T	49958235	3	4	6	1	0	0	0	0	1	0	0	0	453	864	30	4	1443	4	AKAP4	23	49958235	Missense_Mutation	SNP	C	TCGA-BR-4188-01A-01D-1126-08		49958235	105312325	77	6792											
TRO	7216	broad.mit.edu	37	chrX	54956240	54956240	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcactcaacaccaatgctgGttatggtggtgctgtcagca	11	10	2	0			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chrX:54956240G>T	uc004dtq.2	+	12	3190	c.3083G>T	c.(3082-3084)GGT>GTT	p.G1028V	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.G559V|TRO_uc004dtw.2_Missense_Mutation_p.G631V|TRO_uc004dtx.2_Missense_Mutation_p.G411V	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	1028	62 X 10 AA approximate tandem repeats.|22; approximate.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						ACCAATGCTGGTTATGGTGGT	0.547													T	54956240	G	T	54956240	3	4	6	1	0	0	0	0	1	0	0	0	16571	1261	44	5	3125	5	TRO	23	54956240	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	4998005	54956240	100314320	78	6793											
AMOT	154796	broad.mit.edu	37	chrX	112035098	112035098	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagttccctctccagtcGtgtccggagacggtgctcta	10	14	2	1			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chrX:112035098G>A	uc004epr.2	-	6	1888	c.1888C>T	c.(1888-1890)CGA>TGA	p.R630*	AMOT_uc004eps.2_Nonsense_Mutation_p.R221*	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	630	Potential.				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						CTCTCCAGTCGTGTCCGGAGA	0.483													A	112035098	G	A	112035098	4	1	6	1	0	0	0	0	0	1	0	0	582	1153	40	1	1390	1	AMOT	23	112035098	Nonsense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	57078858	112035098	43235462	79	6794											
THOC2	57187	broad.mit.edu	37	chrX	122755146	122755146	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttctctggatggctccttctCtctttccctttcttgagttg	7	12	4	1			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chrX:122755146C>G	uc004etu.2	-	31	4110	c.4078G>C	c.(4078-4080)GAG>CAG	p.E1360Q	THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_Missense_Mutation_p.E181Q	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	1360	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						GGCTCCTTCTCTCTTTCCCTT	0.368													G	122755146	C	G	122755146	3	3	6	1	0	0	0	0	1	0	0	0	15862	922	32	5	735	5	THOC2	23	122755146	Missense_Mutation	SNP	C	TCGA-BR-4188-01A-01D-1126-08	10720048	122755146	32515414	80	6795											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299117	125299117	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggccagggcccgtaccTtgcggttgctggggttggtg	18	9	0	1			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chrX:125299117T>C	uc004euk.1	-	1	818	c.791A>G	c.(790-792)AAG>AGG	p.K264R		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	264	WD 3.									lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						GGCCCGTACCTTGCGGTTGCT	0.637													C	125299117	T	C	125299117	3	2	6	1	0	0	0	0	1	0	0	0	4265	1609	56	3	604	3	DCAF12L2	23	125299117	Missense_Mutation	SNP	T	TCGA-BR-4188-01A-01D-1126-08	2543971	125299117	29971443	81	6796											
GPR101	83550	broad.mit.edu	37	chrX	136113194	136113194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggctgcacagaacaccaCggagtagcaggcaatcatga	12	12	1	2			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chrX:136113194C>T	uc011mwh.1	-	1	640	c.640G>A	c.(640-642)GTG>ATG	p.V214M		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	214	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					CAGAACACCACGGAGTAGCAG	0.537													T	136113194	C	T	136113194	3	4	6	1	0	0	0	0	1	0	0	0	6622	536	19	1	889	1	GPR101	23	136113194	Missense_Mutation	SNP	C	TCGA-BR-4188-01A-01D-1126-08	10814077	136113194	19157366	82	6797											
PLXNB3	5365	broad.mit.edu	37	chrX	153043007	153043007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctgcagaagtttgtggacGacaccttccaggccattctc	10	13	1	1			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chrX:153043007G>A	uc004fii.2	+	31	5299	c.5125G>A	c.(5125-5127)GAC>AAC	p.D1709N	PLXNB3_uc010nuk.2_Missense_Mutation_p.D1732N|PLXNB3_uc011mzd.1_Missense_Mutation_p.D1348N|SRPK3_uc004fik.2_5'UTR	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1709	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GTTTGTGGACGACACCTTCCA	0.627													A	153043007	G	A	153043007	3	1	6	1	0	0	0	0	1	0	0	0	12125	1058	37	1	5361	1	PLXNB3	23	153043007	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	16929813	153043007	2227553	83	6798											
MECP2	4204	broad.mit.edu	37	chrX	153297980	153297980	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggtttgtccttgaggccctGgaggtcctggtcttctgact	14	10	2	2	rs61754425		TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chrX:153297980G>C	uc004fjv.2	-	3	281	c.55C>G	c.(55-57)CAG>GAG	p.Q19E	MECP2_uc004fjw.2_Missense_Mutation_p.Q31E	NM_004992	NP_004983	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 1	19					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGAGGCCCTGGAGGTCCTGG	0.478													C	153297980	G	C	153297980	3	2	6	1	0	0	0	0	1	0	0	0	9423	1357	47	5	1413	5	MECP2	23	153297980	Missense_Mutation	SNP	G	TCGA-BR-4188-01A-01D-1126-08	254973	153297980	1972580	84	6799											
CNR2	1269	broad.mit.edu	37	chr1	24201571	24201571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagtgggaaaagctcagaGcagggcctgggacagcaagt	15	8	2	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:24201571G>A	uc001bif.2	-	2	664	c.537C>T	c.(535-537)TGC>TGT	p.C179C		NM_001841	NP_001832	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	179	Extracellular (Potential).				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			skin(2)|central_nervous_system(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	AAAGCTCAGAGCAGGGCCTGG	0.572													A	24201571	G	A	24201571	2	1	7	1	0	0	0	0	0	0	0	1	3632	963	34	2		2	CNR2	1	24201571	Silent	SNP	G	TCGA-BR-4191-01A-02D-1126-08		24201571	225049050	1	6800											
SNIP1	79753	broad.mit.edu	37	chr1	38003393	38003393	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctcctcctcatcctcgtcatCtttcctgtctatttcagaag	4	15	5	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:38003393C>G	uc001cbi.2	-	4	1220	c.1147G>C	c.(1147-1149)GAT>CAT	p.D383H	SNIP1_uc010oid.1_RNA	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	383					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			upper_aerodigestive_tract(1)|lung(1)	2		Myeloproliferative disorder(586;0.0393)				TCCTCGTCATCTTTCCTGTCT	0.418													G	38003393	C	G	38003393	3	3	7	1	0	0	0	0	1	0	0	0	14848	913	32	5	47	5	SNIP1	1	38003393	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	13801822	38003393	211247228	2	6801											
MACF1	23499	broad.mit.edu	37	chr1	39749838	39749838	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcagataaaacttttccccAaaaccctgttgaactaaagg	6	10	1	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:39749838A>C	uc010ois.1	+	11	1236	c.1031A>C	c.(1030-1032)CAA>CCA	p.Q344P	MACF1_uc001cda.1_Missense_Mutation_p.Q252P	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	344					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACTTTTCCCCAAAACCCTGTT	0.418													C	39749838	A	C	39749838	3	2	7	1	0	0	0	0	1	0	0	0	9144	130	5	5	1065	5	MACF1	1	39749838	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08	1746445	39749838	209500783	3	6802											
SH3GLB1	51100	broad.mit.edu	37	chr1	87190089	87190089	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagaaactagaaattcaGtaagtaaatagaaaaatatt	6	4	1	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:87190089G>C	uc001dlw.2	+	5	896	c.570_splice	c.e5+1	p.S190_splice	SH3GLB1_uc001dlx.2_Splice_Site_p.S190_splice|SH3GLB1_uc001dly.2_Splice_Site_p.S190_splice|SH3GLB1_uc001dlz.2_Splice_Site_p.S90_splice	NM_016009	NP_057093	Q9Y371	SHLB1_HUMAN	SH3-containing protein SH3GLB1						anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding				0		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		TAGAAATTCAGTAAGTAAATA	0.269													C	87190089	G	C	87190089	5	2	7	1	0	0	0	0	0	0	1	0	14253	1043	36	5	589	5	SH3GLB1	1	87190089	Splice_Site	SNP	G	TCGA-BR-4191-01A-02D-1126-08	47440251	87190089	162060532	4	6803											
PPIAL4G	644591	broad.mit.edu	37	chr1	143767465	143767465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttctttcaccttgccaaaGgccacatgcttgccatccaa	6	15	2	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:143767465G>A	uc001ejt.2	-	1	417	c.384C>T	c.(382-384)GCC>GCT	p.A128A		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like	128	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity				0						CCTTGCCAAAGGCCACATGCT	0.488													A	143767465	G	A	143767465	2	1	7	1	0	0	0	0	0	0	0	1	12318	987	35	4		4	PPIAL4G	1	143767465	Silent	SNP	G	TCGA-BR-4191-01A-02D-1126-08	56577376	143767465	105483156	5	6804											
BCL9	607	broad.mit.edu	37	chr1	147095649	147095649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttatttttctaggaatggGcattaatacacagaatcctc	6	8	1	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:147095649G>A	uc001epq.2	+	10	3910	c.3170G>A	c.(3169-3171)GGC>GAC	p.G1057D	BCL9_uc010ozr.1_Intron	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1057	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					CTAGGAATGGGCATTAATACA	0.378			T	IGH@|IGL@	B-ALL								A	147095649	G	A	147095649	3	1	7	1	0	0	0	0	1	0	0	0	1381	1203	42	2	3196	2	BCL9	1	147095649	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	3328184	147095649	102154972	6	6805											
SNX27	81609	broad.mit.edu	37	chr1	151641106	151641106	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgctgttacctacttctttCatcaggtaggtgaattgatc	8	8	3	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:151641106C>T	uc001eyn.1	+	7	1160	c.1144C>T	c.(1144-1146)CAT>TAT	p.H382Y	SNX27_uc001eyo.2_Missense_Mutation_p.H289Y|SNX27_uc001eyp.2_Missense_Mutation_p.H196Y	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	sorting nexin family member 27	382					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			ovary(2)|central_nervous_system(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTACTTCTTTCATCAGGTAGG	0.308													T	151641106	C	T	151641106	3	4	7	1	0	0	0	0	1	0	0	0	14897	826	29	4	1170	4	SNX27	1	151641106	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	4545457	151641106	97609515	7	6806											
TCHH	7062	broad.mit.edu	37	chr1	152081195	152081195	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgttcgcggaattttctgtCacgctcttggcggcgcagct	12	12	3	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:152081195C>T	uc001ezp.2	-	2	4498	c.4498G>A	c.(4498-4500)GAC>AAC	p.D1500N	TCHH_uc009wne.1_Missense_Mutation_p.D1500N	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1500	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATTTTCTGTCACGCTCTTGG	0.552													T	152081195	C	T	152081195	3	4	7	1	0	0	0	0	1	0	0	0	15697	826	29	4	1337	4	TCHH	1	152081195	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	440089	152081195	97169426	8	6807											
OR10J3	441911	broad.mit.edu	37	chr1	159284018	159284018	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagtgatccagaggccagTtggatacaggccctcttacc	10	14	1	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:159284018T>G	uc010piu.1	-	1	432	c.432A>C	c.(430-432)CAA>CAC	p.Q144H		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	144	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)					CAGAGGCCAGTTGGATACAGG	0.517													G	159284018	T	G	159284018	3	3	7	1	0	0	0	0	1	0	0	0	10911	1722	60	5	559	5	OR10J3	1	159284018	Missense_Mutation	SNP	T	TCGA-BR-4191-01A-02D-1126-08	7202823	159284018	89966603	9	6808											
IVNS1ABP	10625	broad.mit.edu	37	chr1	185277943	185277943	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atactctacctgctttactcGatccatcttcagcttttttg	4	12	3	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:185277943G>T	uc001grl.2	-	5	969	c.346C>A	c.(346-348)CGA>AGA	p.R116R	IVNS1ABP_uc001grj.2_5'Flank|IVNS1ABP_uc009wyj.2_5'UTR|IVNS1ABP_uc009wyk.2_RNA	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	116					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				ovary(4)|central_nervous_system(1)	5						TGCTTTACTCGATCCATCTTC	0.308													T	185277943	G	T	185277943	2	4	7	1	0	0	0	0	0	0	0	1	7930	1066	37	5		5	IVNS1ABP	1	185277943	Silent	SNP	G	TCGA-BR-4191-01A-02D-1126-08	25993925	185277943	63972678	10	6809											
IGFN1	91156	broad.mit.edu	37	chr1	201174290	201174290	+	RNA	DEL	T	T	-													cagtctttgaatgtaccctcTccagcccctgccctagtgca							TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:201174290delT	uc001gwb.2	+	11		c.1127delT								Homo sapiens eEF1A2 binding protein mRNA, complete cds.											ovary(2)|pancreas(1)	3						ATGTACCCTCTCCAGCCCCTG	0.607													-	201174290	T	-	201174290	6	5	7	0	1	1	0	1	0	0	0	0	7590	1551	54	0		0	IGFN1	1	201174290	RNA	DEL	T	TCGA-BR-4191-01A-02D-1126-08	15896347	201174290	48076331	11	6810											
IGFN1	91156	broad.mit.edu	37	chr1	201195075	201195075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactacgcggtgttcacacGctcctcagcgcacggtccct	10	17	2	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:201195075G>A	uc001gwc.2	+	11	2862	c.2090G>A	c.(2089-2091)CGC>CAC	p.R697H	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						GTGTTCACACGCTCCTCAGCG	0.662													A	201195075	G	A	201195075	3	1	7	1	0	0	0	0	1	0	0	0	7590	1087	38	1	10692	1	IGFN1	1	201195075	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	20785	201195075	48055546	12	6811											
FMOD	2331	broad.mit.edu	37	chr1	203317347	203317347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtcatcttcatactgggCctgggagagggagaagagcc	16	8	3	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:203317347C>T	uc001gzr.2	-	2	188	c.52G>A	c.(52-54)GCC>ACC	p.A18T	FMOD_uc010pqi.1_RNA	NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	18					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.171)			TCATACTGGGCCTGGGAGAGG	0.562													T	203317347	C	T	203317347	3	4	7	1	0	0	0	0	1	0	0	0	5959	739	26	2	1086	2	FMOD	1	203317347	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	2122272	203317347	45933274	13	6812											
PXDN	7837	broad.mit.edu	37	chr2	1691444	1691444	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcccttaaatgcttgcctgtCaattgactggatctcattct	6	11	3	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:1691444C>T	uc002qxa.2	-	4	440	c.376G>A	c.(376-378)GAC>AAC	p.D126N	PXDN_uc002qxb.1_Missense_Mutation_p.D126N|PXDN_uc002qxc.1_Intron	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	126	LRR 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCTTGCCTGTCAATTGACTGG	0.453													T	1691444	C	T	1691444	3	4	7	1	0	0	0	0	1	0	0	0	12847	826	29	4	4143	4	PXDN	2	1691444	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08		1691444	241507929	14	6813											
KIDINS220	57498	broad.mit.edu	37	chr2	8891763	8891763	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catccttagttgttggaataTtctttgatattcttcaaata	5	6	3	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:8891763T>A	uc002qzc.2	-	23	3205	c.3023A>T	c.(3022-3024)AAT>ATT	p.N1008I	KIDINS220_uc010yiv.1_Missense_Mutation_p.N774I|KIDINS220_uc002qzd.2_Missense_Mutation_p.N966I|KIDINS220_uc010yiw.1_Missense_Mutation_p.N1009I|KIDINS220_uc002qzb.2_5'Flank|KIDINS220_uc002qze.2_Missense_Mutation_p.N13I	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1008	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGTTGGAATATTCTTTGATAT	0.318													A	8891763	T	A	8891763	3	1	7	1	0	0	0	0	1	0	0	0	8271	1493	52	5	2324	5	KIDINS220	2	8891763	Missense_Mutation	SNP	T	TCGA-BR-4191-01A-02D-1126-08	7200319	8891763	234307610	15	6814											
CAD	790	broad.mit.edu	37	chr2	27456582	27456582	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctatgaatgtggcctAcacggatggagacctggagc	14	9	0	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:27456582A>G	uc002rji.2	+	21	3467	c.3305A>G	c.(3304-3306)TAC>TGC	p.Y1102C	CAD_uc010eyw.2_Missense_Mutation_p.Y1039C	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1102	CPSase B.|ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AATGTGGCCTACACGGATGGA	0.602													G	27456582	A	G	27456582	3	3	7	1	0	0	0	0	1	0	0	0	2565	391	14	3	3387	3	CAD	2	27456582	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08	18564819	27456582	215742791	16	6815											
PLB1	151056	broad.mit.edu	37	chr2	28718990	28718990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcattctggcatggggctGcggccaggcattttcctcct	13	12	1	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:28718990G>A	uc002rmb.1	+	1	9	c.9G>A	c.(7-9)CTG>CTA	p.L3L	PLB1_uc010ezj.1_Silent_p.L3L	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	3					lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					GCATGGGGCTGCGGCCAGGCA	0.587													A	28718990	G	A	28718990	2	1	7	1	0	0	0	0	0	0	0	1	12024	1306	46	2		2	PLB1	2	28718990	Silent	SNP	G	TCGA-BR-4191-01A-02D-1126-08	1262408	28718990	214480383	17	6816											
ATP6V1B1	525	broad.mit.edu	37	chr2	71191631	71191631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagtcagccattggggaaGgcatgacaagaaaggaccat	13	7	1	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:71191631G>A	uc002shj.2	+	12	1294	c.1207G>A	c.(1207-1209)GGC>AGC	p.G403S	ATP6V1B1_uc010fdv.2_Missense_Mutation_p.G386S|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.G361S	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	403					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1						CATTGGGGAAGGCATGACAAG	0.567											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	71191631	G	A	71191631	3	1	7	1	0	0	0	0	1	0	0	0	1178	1000	35	4	1253	4	ATP6V1B1	2	71191631	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	42472641	71191631	172007742	18	6817											
SMYD5	10322	broad.mit.edu	37	chr2	73453064	73453064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctgggggatgagatgaCtgatgtgtgatgttgccctg	17	5	0	5			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:73453064C>T	uc002siw.2	+	13	1276	c.1247C>T	c.(1246-1248)ACT>ATT	p.T416I	SMYD5_uc010yre.1_Missense_Mutation_p.T300I|SMYD5_uc002six.1_RNA	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	416							metal ion binding				0						GATGAGATGACTGATGTGTGA	0.483													T	73453064	C	T	73453064	3	4	7	1	0	0	0	0	1	0	0	0	14825	565	20	4	1297	4	SMYD5	2	73453064	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	2261433	73453064	169746309	19	6818											
TMEM131	23505	broad.mit.edu	37	chr2	98428986	98428986	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acaagttctattgataaaccGtctcctatgatatgccaact	5	10	2	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:98428986G>C	uc002syh.3	-	17	1990	c.1761C>G	c.(1759-1761)GAC>GAG	p.D587E		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	587						integral to membrane				ovary(4)|central_nervous_system(2)	6						TTGATAAACCGTCTCCTATGA	0.308													C	98428986	G	C	98428986	3	2	7	1	0	0	0	0	1	0	0	0	16041	1136	40	5	3990	5	TMEM131	2	98428986	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	24975922	98428986	144770387	20	6819											
LONRF2	164832	broad.mit.edu	37	chr2	100906807	100906807	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggaaccgactgatgccaatCgcgtctacaacagaacttcc	8	14	1	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:100906807C>T	uc002tal.3	-	10	2473	c.1833G>A	c.(1831-1833)GCG>GCA	p.A611A	LONRF2_uc010yvs.1_RNA	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger	611	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2						TGATGCCAATCGCGTCTACAA	0.453													T	100906807	C	T	100906807	2	4	7	1	0	0	0	0	0	0	0	1	8895	871	31	1		1	LONRF2	2	100906807	Silent	SNP	C	TCGA-BR-4191-01A-02D-1126-08	2477821	100906807	142292566	21	6820											
WDR33	55339	broad.mit.edu	37	chr2	128484243	128484260	+	In_Frame_Del	DEL	CCAGTCTTGGGATCCCAG	CCAGTCTTGGGATCCCAG	-													acagtgttgcaagactctgcCcagtcttgggatcccagaac							TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:128484242_128484259CCCAGTCTTGGGATCCCAG>C	uc002tpg.2	-	7	1016_1033	c.817_834CTGGGATCCCAAGACTGGG>G	c.(817-834)tgggatcccaagactggg>G	p.WDPKTG273del		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	273					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CAAGACTCTGCCCAGTCTTGGGATCCCAGAACTTGATT	0.472													-	128484260	CCAGTCTTGGGATCCCAG	-	128484243	7	5	7	1	0	1	0	1	0	0	0	0	17284	623	22	0	3237	0	WDR33	2	128484243	In_Frame_Del	DEL	CCAGTCTTGGGATCCCAG	TCGA-BR-4191-01A-02D-1126-08	27577436	128484243	114715130	22	6821											
LRP2	4036	broad.mit.edu	37	chr2	170038058	170038058	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttggtggagattatcacagActtgttggttccatccatgc	10	9	1	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:170038058A>T	uc002ues.2	-	52	10282	c.10069T>A	c.(10069-10071)TCT>ACT	p.S3357T		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3357	Extracellular (Potential).|LDL-receptor class B 32.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATTATCACAGACTTGTTGGTT	0.507													T	170038058	A	T	170038058	3	4	7	1	0	0	0	0	1	0	0	0	8956	275	10	5	4010	5	LRP2	2	170038058	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08	41553815	170038058	73161315	23	6822											
MYO3B	140469	broad.mit.edu	37	chr2	171264299	171264299	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtggttgtggtcctgagAacgtcagaaaacaagcttct	12	7	2	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:171264299A>G	uc002ufy.2	+	22	2738	c.2595A>G	c.(2593-2595)AGA>AGG	p.R865R	MYO3B_uc002ufv.2_Silent_p.R852R|MYO3B_uc010fqb.1_Silent_p.R852R|MYO3B_uc002ufz.2_Silent_p.R865R|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	865	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						TGGTCCTGAGAACGTCAGAAA	0.448													G	171264299	A	G	171264299	2	3	7	1	0	0	0	0	0	0	0	1	10077	243	9	3		3	MYO3B	2	171264299	Silent	SNP	A	TCGA-BR-4191-01A-02D-1126-08	1226241	171264299	71935074	24	6823											
WIPF1	7456	broad.mit.edu	37	chr2	175437055	175437055	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctctgaggctctgggggacCacttctgtggcctggagaag	15	11	3	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:175437055C>A	uc002uiy.2	-	6	810	c.478G>T	c.(478-480)GGT>TGT	p.G160C	uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.G160C|WIPF1_uc010fqt.1_Missense_Mutation_p.G160C|WIPF1_uc002ujc.1_Missense_Mutation_p.G160C|WIPF1_uc002uiz.2_Missense_Mutation_p.G160C|WIPF1_uc002ujb.1_Missense_Mutation_p.G160C|WIPF1_uc010zep.1_Missense_Mutation_p.G160C	NM_003387	NP_003378	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	160					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)|skin(1)	2						TCTGGGGGACCACTTCTGTGG	0.592													A	175437055	C	A	175437055	3	1	7	1	0	0	0	0	1	0	0	0	17364	594	21	5	1049	5	WIPF1	2	175437055	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	4172756	175437055	67762318	25	6824											
DNAH7	56171	broad.mit.edu	37	chr2	196756511	196756511	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaacagttatttgaactttGttttcttccattagcccctt	4	9	1	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:196756511G>T	uc002utj.3	-	31	5015	c.4914C>A	c.(4912-4914)AAC>AAA	p.N1638K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1638	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TTTGAACTTTGTTTTCTTCCA	0.274													T	196756511	G	T	196756511	3	4	7	1	0	0	0	0	1	0	0	0	4606	1368	48	5	7300	5	DNAH7	2	196756511	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	21319456	196756511	46442862	26	6825											
SMARCAL1	50485	broad.mit.edu	37	chr2	217285023	217285023	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gattcttcttctttggcagtGaaagcagcccagagcctccc	9	13	3	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:217285023G>A	uc002vgc.3	+	5	1194	c.864G>A	c.(862-864)ATG>ATA	p.M288I	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.M288I|SMARCAL1_uc010fvg.2_Missense_Mutation_p.M288I	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	288	HARP 1.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTTTGGCAGTGAAAGCAGCCC	0.567									Schimke_Immuno-Osseous_Dysplasia				A	217285023	G	A	217285023	3	1	7	1	0	0	0	0	1	0	0	0	14773	1304	45	4	874	4	SMARCAL1	2	217285023	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	20528512	217285023	25914350	27	6826											
C2orf62	375307	broad.mit.edu	37	chr2	219231774	219231774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaagagaatacaggtgggCtccccagggtgctgcatcat	13	11	1	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:219231774C>T	uc002vhr.2	+	8	812	c.783C>T	c.(781-783)GGC>GGT	p.G261G	C2orf62_uc002vhs.2_RNA|uc002vht.2_Intron	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	hypothetical protein LOC375307	261											0		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TACAGGTGGGCTCCCCAGGGT	0.547													T	219231774	C	T	219231774	2	4	7	1	0	0	0	0	0	0	0	1	2181	784	28	2		2	C2orf62	2	219231774	Silent	SNP	C	TCGA-BR-4191-01A-02D-1126-08	1946751	219231774	23967599	28	6827											
DNER	92737	broad.mit.edu	37	chr2	230282862	230282862	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acacacactcatagccattaAcgaggtccctgcaggtggct	9	13	1	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:230282862A>T	uc002vpv.2	-	9	1718	c.1571T>A	c.(1570-1572)GTT>GAT	p.V524D		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	524	EGF-like 8; calcium-binding (Potential).|Extracellular (Potential).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATAGCCATTAACGAGGTCCCT	0.527													T	230282862	A	T	230282862	3	4	7	1	0	0	0	0	1	0	0	0	4667	43	2	5	662	5	DNER	2	230282862	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08	11051088	230282862	12916511	29	6828											
CHL1	10752	broad.mit.edu	37	chr3	432428	432428	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggggtggacgttataaacAgtacattagttaaagttacc	10	5	0	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:432428A>C	uc003bou.2	+	20	2738	c.2467A>C	c.(2467-2469)AGT>CGT	p.S823R	CHL1_uc003bot.2_Missense_Mutation_p.S839R|CHL1_uc003bow.1_Missense_Mutation_p.S823R|CHL1_uc011asi.1_Missense_Mutation_p.S839R	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	823	Fibronectin type-III 3.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CGTTATAAACAGTACATTAGT	0.383													C	432428	A	C	432428	3	2	7	1	0	0	0	0	1	0	0	0	3349	188	7	5	2589	5	CHL1	3	432428	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08		432428	197590002	30	6829											
ITPR1	3708	broad.mit.edu	37	chr3	4810221	4810221	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcccacaacacagataacaGaagaggtccgggatcagctc	10	12	1	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:4810221G>A	uc003bqa.2	+	43	5956	c.5608G>A	c.(5608-5610)GAA>AAA	p.E1870K	ITPR1_uc010hca.1_Missense_Mutation_p.E1855K|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.E840K	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	1918	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ACAGATAACAGAAGAGGTCCG	0.557													A	4810221	G	A	4810221	3	1	7	1	0	0	0	0	1	0	0	0	7920	943	33	4	5926	4	ITPR1	3	4810221	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	4377793	4810221	193212209	31	6830											
TGFBR2	7048	broad.mit.edu	37	chr3	30729923	30729923	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttccaaggtgcgggagcacCcctgtgtcgaaagcatgaag	14	10	0	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:30729923C>A	uc003ceo.2	+	6	1826	c.1444C>A	c.(1444-1446)CCC>ACC	p.P482T	TGFBR2_uc003cen.2_Missense_Mutation_p.P507T	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	482	Protein kinase.|Cytoplasmic (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						GCGGGAGCACCCCTGTGTCGA	0.502													A	30729923	C	A	30729923	3	1	7	1	0	0	0	0	1	0	0	0	15819	623	22	5	1545	5	TGFBR2	3	30729923	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	25919702	30729923	167292507	32	6831											
CSRNP1	64651	broad.mit.edu	37	chr3	39186708	39186708	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccatcaaaggctacacggCctgggcgctcccggcgagcc	12	17	1	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:39186708C>A	uc003cjg.2	-	3	459	c.245G>T	c.(244-246)GGC>GTC	p.G82V	CSRNP1_uc003cjh.2_Missense_Mutation_p.G82V	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN	AXIN1 up-regulated 1	82					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(4)|skin(1)	5						GGCTACACGGCCTGGGCGCTC	0.592													A	39186708	C	A	39186708	3	1	7	1	0	0	0	0	1	0	0	0	3963	739	26	5	1536	5	CSRNP1	3	39186708	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	8456785	39186708	158835722	33	6832											
LYZL4	131375	broad.mit.edu	37	chr3	42445586	42445586	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatggtcttggcacatttaAttgtcttctctaaattagga	7	7	3	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:42445586A>C	uc003cle.2	-	4	572	c.323T>G	c.(322-324)ATT>AGT	p.I108S		NM_144634	NP_653235	Q96KX0	LYZL4_HUMAN	lysozyme-like 4 precursor	108					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.222)		GGCACATTTAATTGTCTTCTC	0.378													C	42445586	A	C	42445586	3	2	7	1	0	0	0	0	1	0	0	0	9133	101	4	5	125	5	LYZL4	3	42445586	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08	3258878	42445586	155576844	34	6833											
SETD2	29072	broad.mit.edu	37	chr3	47098523	47098523	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caagacagcaacgctggagtCttggtgtactacaccatcac	9	12	2	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:47098523C>G	uc003cqs.2	-	15	6804	c.6751G>C	c.(6751-6753)GAC>CAC	p.D2251H	SETD2_uc003cqv.2_Missense_Mutation_p.D2318H|SETD2_uc003cqt.1_Intron	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2251	Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACGCTGGAGTCTTGGTGTACT	0.547			N|F|S|Mis		clear cell renal carcinoma								G	47098523	C	G	47098523	3	3	7	1	0	0	0	0	1	0	0	0	14131	913	32	5	971	5	SETD2	3	47098523	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	4652937	47098523	150923907	35	6834											
C3orf54	389119	broad.mit.edu	37	chr3	49842367	49842367	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctcacgctttgcagctctcAtgagctgtcgtagccgccag	10	14	2	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:49842367A>T	uc003cxq.1	+	2	944	c.811A>T	c.(811-813)ATG>TTG	p.M271L		NM_203370	NP_976248	Q96EL1	CC054_HUMAN	hypothetical protein LOC389119	269											0				BRCA - Breast invasive adenocarcinoma(193;3.55e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TGCAGCTCTCATGAGCTGTCG	0.582													T	49842367	A	T	49842367	3	4	7	1	0	0	0	0	1	0	0	0	2233	217	8	5	817	5	C3orf54	3	49842367	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08	2743844	49842367	148180063	36	6835											
DOCK3	1795	broad.mit.edu	37	chr3	50971444	50971444	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtggttccacttgaagattCtattgtgactgaggttacag	11	6	1	4			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:50971444C>A	uc011bds.1	+	5	274	c.251C>A	c.(250-252)TCT>TAT	p.S84Y		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	84						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTTGAAGATTCTATTGTGACT	0.398													A	50971444	C	A	50971444	3	1	7	1	0	0	0	0	1	0	0	0	4688	913	32	5	269	5	DOCK3	3	50971444	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	1129077	50971444	147050986	37	6836											
ALAS1	211	broad.mit.edu	37	chr3	52240613	52240613	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagatttactctgattctggGaaccatgcctccatgatcca	8	11	2	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:52240613G>A	uc003dcy.1	+	8	1348	c.1011G>A	c.(1009-1011)GGG>GGA	p.G337G	ALAS1_uc003dcz.1_Silent_p.G337G|ALAS1_uc011bec.1_Silent_p.G354G	NM_000688	NP_000679	P13196	HEM1_HUMAN	5-aminolevulinate synthase 1 precursor	337					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)|upper_aerodigestive_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTGATTCTGGGAACCATGCCT	0.433													A	52240613	G	A	52240613	2	1	7	1	0	0	0	0	0	0	0	1	484	1161	41	4		4	ALAS1	3	52240613	Silent	SNP	G	TCGA-BR-4191-01A-02D-1126-08	1269169	52240613	145781817	38	6837											
STAB1	23166	broad.mit.edu	37	chr3	52551576	52551576	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctggggacaggtctcctgcaGctgccgtgagggttacagcg	16	11	1	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:52551576G>C	uc003dej.2	+	44	4648	c.4574G>C	c.(4573-4575)AGC>ACC	p.S1525T	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1525	EGF-like 12.|Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GTCTCCTGCAGCTGCCGTGAG	0.652													C	52551576	G	C	52551576	3	2	7	1	0	0	0	0	1	0	0	0	15236	971	34	5	4748	5	STAB1	3	52551576	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	310963	52551576	145470854	39	6838											
PTPRG	5793	broad.mit.edu	37	chr3	62253086	62253086	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttcttatcttctatagaTgatcacagtagggtgaagtt	8	5	4	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:62253086T>C	uc003dlb.2	+	18	3377	c.2658T>C	c.(2656-2658)TAT>TAC	p.Y886Y	PTPRG_uc003dlc.2_Silent_p.Y857Y|PTPRG_uc011bfi.1_Silent_p.Y132Y|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	886	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTTCTATAGATGATCACAGTA	0.343													C	62253086	T	C	62253086	2	2	7	1	0	0	0	0	0	0	0	1	12802	1478	51	3		3	PTPRG	3	62253086	Silent	SNP	T	TCGA-BR-4191-01A-02D-1126-08	9701510	62253086	135769344	40	6839											
C3orf17	25871	broad.mit.edu	37	chr3	112732835	112732835	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaaacaggtcttgaattgaGccctccaaattcatgttttt	6	9	3	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:112732835G>T	uc003dzr.2	-	3	367	c.306C>A	c.(304-306)GGC>GGA	p.G102G	GTPBP8_uc011bhy.1_Intron|C3orf17_uc011bhz.1_Intron|C3orf17_uc010hqh.2_5'UTR|C3orf17_uc003dzt.2_Silent_p.G5G|C3orf17_uc003dzs.2_5'UTR|C3orf17_uc010hqg.2_5'UTR|C3orf17_uc011bia.1_5'UTR|C3orf17_uc003dzu.2_Silent_p.G101G|C3orf17_uc011bib.1_Silent_p.G5G|C3orf17_uc011bic.1_Silent_p.G5G|C3orf17_uc011bid.1_RNA	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	hypothetical protein LOC25871	102						integral to membrane					0						CTTGAATTGAGCCCTCCAAAT	0.418													T	112732835	G	T	112732835	2	4	7	1	0	0	0	0	0	0	0	1	2210	958	34	5		5	C3orf17	3	112732835	Silent	SNP	G	TCGA-BR-4191-01A-02D-1126-08	50479749	112732835	85289595	41	6840											
H1FX	8971	broad.mit.edu	37	chr3	129034479	129034479	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcgccttgatcgagtacttGaggtaggtgcgcccattctg	13	10	1	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:129034479G>A	uc003elx.2	-	1	642	c.267C>T	c.(265-267)CTC>CTT	p.L89L	C3orf47_uc011bkv.1_5'Flank	NM_006026	NP_006017	Q92522	H1X_HUMAN	H1 histone family, member X	89	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding				0						TCGAGTACTTGAGGTAGGTGC	0.602													A	129034479	G	A	129034479	2	1	7	1	0	0	0	0	0	0	0	1	6923	1277	45	4		4	H1FX	3	129034479	Silent	SNP	G	TCGA-BR-4191-01A-02D-1126-08	16301644	129034479	68987951	42	6841											
EPHB1	2047	broad.mit.edu	37	chr3	134873004	134873004	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctctccacagccccctccacCgttcccatcatgcaccaagt	4	21	2	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:134873004C>G	uc003eqt.2	+	6	1528	c.1308C>G	c.(1306-1308)ACC>ACG	p.T436T	EPHB1_uc003equ.2_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	436	Fibronectin type-III 2.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						CCCCCTCCACCGTTCCCATCA	0.532													G	134873004	C	G	134873004	2	3	7	1	0	0	0	0	0	0	0	1	5174	639	23	5		5	EPHB1	3	134873004	Silent	SNP	C	TCGA-BR-4191-01A-02D-1126-08	5838525	134873004	63149426	43	6842											
SOX14	8403	broad.mit.edu	37	chr3	137483819	137483819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgatgaagccaagcggctaCgcgcccagcacatgaaggag	13	12	0	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:137483819C>T	uc003erm.1	+	1	241	c.193C>T	c.(193-195)CGC>TGC	p.R65C		NM_004189	NP_004180	O95416	SOX14_HUMAN	SRY-box 14	65	HMG box.				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding				0						CAAGCGGCTACGCGCCCAGCA	0.567													T	137483819	C	T	137483819	3	4	7	1	0	0	0	0	1	0	0	0	14945	536	19	1	195	1	SOX14	3	137483819	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	2610815	137483819	60538611	44	6843											
MECOM	2122	broad.mit.edu	37	chr3	168833682	168833682	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agcaatagcctttatagaatCattcacagctcctgacaccg	6	12	2	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:168833682C>G	uc003ffi.3	-	7	1683	c.1414G>C	c.(1414-1416)GAT>CAT	p.D472H	MECOM_uc010hwk.1_Missense_Mutation_p.D495H|MECOM_uc003ffj.3_Missense_Mutation_p.D537H|MECOM_uc011bpi.1_Missense_Mutation_p.D473H|MECOM_uc003ffn.3_Missense_Mutation_p.D472H|MECOM_uc003ffk.2_Missense_Mutation_p.D472H|MECOM_uc003ffl.2_Missense_Mutation_p.D632H|MECOM_uc011bpj.1_Missense_Mutation_p.D660H|MECOM_uc011bpk.1_Missense_Mutation_p.D462H|MECOM_uc010hwn.2_Missense_Mutation_p.D660H	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	472					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						TTTATAGAATCATTCACAGCT	0.398													G	168833682	C	G	168833682	3	3	7	1	0	0	0	0	1	0	0	0	9422	826	29	5	1781	5	MECOM	3	168833682	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	31349863	168833682	29188748	45	6844											
MYNN	55892	broad.mit.edu	37	chr3	169492270	169492270	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cttctgagaacaatgtctttCttgatcagagtcaggtgaag	10	7	5	4			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:169492270C>G	uc003fft.2	+	2	616	c.187C>G	c.(187-189)CTT>GTT	p.L63V	MYNN_uc011bpm.1_Intron|MYNN_uc003ffu.2_Missense_Mutation_p.L63V|MYNN_uc003ffv.2_5'UTR|MYNN_uc010hwo.2_Missense_Mutation_p.L63V	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	myoneurin	63	BTB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CAATGTCTTTCTTGATCAGAG	0.383													G	169492270	C	G	169492270	3	3	7	1	0	0	0	0	1	0	0	0	10061	913	32	5	189	5	MYNN	3	169492270	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	658588	169492270	28530160	46	6845											
SLC2A2	6514	broad.mit.edu	37	chr3	170732334	170732346	+	Frame_Shift_Del	DEL	GGGACCAGAGCAT	GGGACCAGAGCAT	-													tgcaaagctggatacagacaGggaccagagcatggtgatta							TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:170732333_170732345AGGGACCAGAGCAT>A	uc003fhe.1	-	2	593_605	c.284_296ATGCTCTGGTCCCT>T	c.(283-297)atgctctggtccctgfs	p.M95fs	SLC2A2_uc003fhf.1_5'UTR|SLC2A2_uc011bpu.1_Intron	NM_000340	NP_000331	P11168	GTR2_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA.	95					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GGATACAGACAGGGACCAGAGCATGGTGATTAG	0.474													-	170732346	GGGACCAGAGCAT	-	170732334	7	5	7	1	0	1	0	1	0	0	0	0	14544	991	35	0	1315	0	SLC2A2	3	170732334	Frame_Shift_Del	DEL	GGGACCAGAGCAT	TCGA-BR-4191-01A-02D-1126-08	1240064	170732334	27290096	47	6846											
TTC14	151613	broad.mit.edu	37	chr3	180321029	180321029	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agtgattggaagaattagttCtattcgggaattcggttttt	11	3	1	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:180321029C>G	uc003fkk.2	+	3	536	c.404C>G	c.(403-405)TCT>TGT	p.S135C	TTC14_uc003fkl.2_Missense_Mutation_p.S135C|TTC14_uc003fkm.2_Missense_Mutation_p.S135C	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	135	S1 motif.						RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGAATTAGTTCTATTCGGGAA	0.383													G	180321029	C	G	180321029	3	3	7	1	0	0	0	0	1	0	0	0	16678	913	32	5	414	5	TTC14	3	180321029	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	9588695	180321029	17701401	48	6847			1	1		3	3	1040	C		2.78432e-05
TTC14	151613	broad.mit.edu	37	chr3	180321108	180321108	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatatagcccacttagaaatCacagtaagttatttttgtta	6	6	1	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:180321108C>T	uc003fkk.2	+	3	615	c.483C>T	c.(481-483)ATC>ATT	p.I161I	TTC14_uc003fkl.2_Silent_p.I161I|TTC14_uc003fkm.2_Silent_p.I161I	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	161	S1 motif.						RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ACTTAGAAATCACAGTAAGTT	0.358													T	180321108	C	T	180321108	2	4	7	1	0	0	0	0	0	0	0	1	16678	816	29	4		4	TTC14	3	180321108	Silent	SNP	C	TCGA-BR-4191-01A-02D-1126-08	79	180321108	17701322	49	6848			1	1		3	3	1040	C		2.78432e-05
TTC14	151613	broad.mit.edu	37	chr3	180322068	180322068	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	taaccatggggatcctttatCatattaccaaactggtgaca	7	9	1	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:180322068C>G	uc003fkk.2	+	4	674	c.542C>G	c.(541-543)TCA>TGA	p.S181*	TTC14_uc003fkl.2_Nonsense_Mutation_p.S181*|TTC14_uc003fkm.2_Nonsense_Mutation_p.S181*	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	181	S1 motif.						RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GATCCTTTATCATATTACCAA	0.303													G	180322068	C	G	180322068	4	3	7	1	0	0	0	0	0	1	0	0	16678	838	29	5	556	5	TTC14	3	180322068	Nonsense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	960	180322068	17700362	50	6849			1	1		3	3	1040	C		2.78432e-05
CCDC39	339829	broad.mit.edu	37	chr3	180397081	180397081	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcttcaattgatctcacctGatcttccagtagcttgttct	6	11	4	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:180397081G>A	uc010hxe.2	-	1	203	c.88C>T	c.(88-90)CAG>TAG	p.Q30*	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	30	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GATCTCACCTGATCTTCCAGT	0.542													A	180397081	G	A	180397081	4	1	7	1	0	0	0	0	0	1	0	0	2811	1299	45	4	2817	4	CCDC39	3	180397081	Nonsense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	75013	180397081	17625349	51	6850											
DVL3	1857	broad.mit.edu	37	chr3	183884725	183884726	+	Missense_Mutation	DNP	CC	CC	AG													cctgagcaccatcacctccaCcagctcctccatcaccagtt							TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:183884725_183884726CC>AG	uc003fms.2	+	11	1300_1301	c.1160_1161CC>AG	c.(1159-1161)ACC>AAG	p.T387K	DVL3_uc011bqw.1_Missense_Mutation_p.T370K|DVL3_uc003fmt.2_Missense_Mutation_p.T58K|DVL3_uc003fmu.2_Missense_Mutation_p.T219K	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	387					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			ATCACCTCCACCAGCTCCTCCA	0.653													AG	183884726	CC	AG	183884725	3	1	7	1	0	0	0	0	1	0	0	0	4837	507	18	5	1202	5	DVL3	3	183884725	Missense_Mutation	DNP	CC	TCGA-BR-4191-01A-02D-1126-08	3487644	183884725	14137705	52	6851											
AP2M1	1173	broad.mit.edu	37	chr3	183898981	183898981	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagattgttattgaaaagcAgggcaaaggcacagctgatg	12	6	0	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:183898981A>G	uc011bqx.1	+	7	831	c.674A>G	c.(673-675)CAG>CGG	p.Q225R	AP2M1_uc003fmw.2_Missense_Mutation_p.Q223R|AP2M1_uc003fmx.2_Missense_Mutation_p.Q153R|AP2M1_uc003fmy.2_Missense_Mutation_p.Q223R|AP2M1_uc011bqy.1_Missense_Mutation_p.Q95R|AP2M1_uc011bqz.1_Missense_Mutation_p.Q41R	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	225	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity				0	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATTGAAAAGCAGGGCAAAGGC	0.547													G	183898981	A	G	183898981	3	3	7	1	0	0	0	0	1	0	0	0	742	188	7	3	693	3	AP2M1	3	183898981	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08	14256	183898981	14123449	53	6852											
FGF12	2257	broad.mit.edu	37	chr3	192053245	192053245	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcccacgggaattagatTgaagagagctggggggagaa	17	6	0	4			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:192053245T>G	uc003fsx.2	-	3	1145	c.319A>C	c.(319-321)AAT>CAT	p.N107H	FGF12_uc003fsy.2_Missense_Mutation_p.N45H	NM_021032	NP_066360	P61328	FGF12_HUMAN	fibroblast growth factor 12 isoform 1	107					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			ovary(1)|skin(1)|lung(1)|pancreas(1)	4	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GGAATTAGATTGAAGAGAGCT	0.433													G	192053245	T	G	192053245	3	3	7	1	0	0	0	0	1	0	0	0	5841	1812	63	5	424	5	FGF12	3	192053245	Missense_Mutation	SNP	T	TCGA-BR-4191-01A-02D-1126-08	8154264	192053245	5969185	54	6853											
HAUS3	79441	broad.mit.edu	37	chr4	2242050	2242050	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttaatgctgctgtgctttgCtcttcctgacttaggtattt	9	8	1	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr4:2242050C>G	uc003ges.1	-	2	854	c.624G>C	c.(622-624)GAG>GAC	p.E208D	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Missense_Mutation_p.E208D|HAUS3_uc003get.1_Missense_Mutation_p.E208D	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	208					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				large_intestine(2)|breast(2)	4						ctgtgctttgctcttcctgac	0.075													G	2242050	C	G	2242050	3	3	7	1	0	0	0	0	1	0	0	0	6967	796	28	5	1203	5	HAUS3	4	2242050	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08		2242050	188912226	55	6854											
GPRIN3	285513	broad.mit.edu	37	chr4	90170468	90170468	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagtgaggggggttggttgaGgtgtcacagaagttgtgcct	18	4	1	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr4:90170468G>T	uc003hsm.1	-	2	1313	c.794C>A	c.(793-795)CCT>CAT	p.P265H		NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	265										ovary(3)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GGTTGGTTGAGGTGTCACAGA	0.557													T	90170468	G	T	90170468	3	4	7	1	0	0	0	0	1	0	0	0	6731	1000	35	5	1540	5	GPRIN3	4	90170468	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	87928418	90170468	100983808	56	6855											
TRIM60	166655	broad.mit.edu	37	chr4	165962340	165962340	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtcaagactgtcttctTaggaactggcaggatcagcc	12	9	4	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr4:165962340T>A	uc003iqy.1	+	3	1286	c.1116T>A	c.(1114-1116)CTT>CTA	p.L372L	TRIM60_uc010iqx.1_Silent_p.L372L	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	ring finger protein 129	372	B30.2/SPRY.					intracellular	zinc ion binding			skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		ACTGTCTTCTTAGGAACTGGC	0.483													A	165962340	T	A	165962340	2	1	7	1	0	0	0	0	0	0	0	1	16532	1741	61	5		5	TRIM60	4	165962340	Silent	SNP	T	TCGA-BR-4191-01A-02D-1126-08	75791872	165962340	25191936	57	6856											
ADAMTS16	170690	broad.mit.edu	37	chr5	5200343	5200343	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgcaatggagtcttctcctGgtcaccctgcagccgccagt	10	15	3	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:5200343G>T	uc003jdl.2	+	9	1550	c.1412G>T	c.(1411-1413)TGG>TTG	p.W471L	ADAMTS16_uc003jdk.1_Missense_Mutation_p.W471L|ADAMTS16_uc003jdj.1_Missense_Mutation_p.W471L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	471	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						GTCTTCTCCTGGTCACCCTGC	0.498													T	5200343	G	T	5200343	3	4	7	1	0	0	0	0	1	0	0	0	261	1357	47	5	1446	5	ADAMTS16	5	5200343	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08		5200343	175714917	58	6857											
BDP1	55814	broad.mit.edu	37	chr5	70820113	70820113	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttggtctcagatctcctgAacctgtttctgctcagattg	9	10	4	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:70820113A>C	uc003kbp.1	+	25	5998	c.5735A>C	c.(5734-5736)GAA>GCA	p.E1912A	BDP1_uc003kbo.2_Missense_Mutation_p.E1912A|BDP1_uc003kbq.1_RNA	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1912					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGATCTCCTGAACCTGTTTCT	0.388													C	70820113	A	C	70820113	3	2	7	1	0	0	0	0	1	0	0	0	1395	246	9	5	5833	5	BDP1	5	70820113	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08	65619770	70820113	110095147	59	6858											
RASGRF2	5924	broad.mit.edu	37	chr5	80476075	80476075	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgagttctgaacgtcctccGtcactgggtctcaaagcacg	10	13	3	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:80476075G>T	uc003kha.1	+	18	2768	c.2768G>T	c.(2767-2769)CGT>CTT	p.R923L	RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	923					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AACGTCCTCCGTCACTGGGTC	0.388													T	80476075	G	T	80476075	3	4	7	1	0	0	0	0	1	0	0	0	13073	1145	40	5	2838	5	RASGRF2	5	80476075	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	9655962	80476075	100439185	60	6859											
VCAN	1462	broad.mit.edu	37	chr5	82876166	82876166	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tattctatgaaatactttaaAaattcctcatcagcaaagga	4	7	3	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:82876166A>C	uc003kii.3	+	15	10460	c.10104A>C	c.(10102-10104)AAA>AAC	p.K3368N	VCAN_uc003kij.3_Missense_Mutation_p.K2381N|VCAN_uc010jau.2_Missense_Mutation_p.K1614N|VCAN_uc003kik.3_Missense_Mutation_p.K627N|VCAN_uc003kil.3_Missense_Mutation_p.K2032N	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	3368					cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AATACTTTAAAAATTCCTCAT	0.393													C	82876166	A	C	82876166	3	2	7	1	0	0	0	0	1	0	0	0	17135	11	1	5	10158	5	VCAN	5	82876166	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08	2400091	82876166	98039094	61	6860											
APC	324	broad.mit.edu	37	chr5	112177228	112177228	+	Frame_Shift_Del	DEL	C	C	-													agtgacattgaccaagaaaaCaacaataaagaaaatgaacc							TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:112177228delC	uc010jby.2	+	16	6317	c.5937delC	c.(5935-5937)AACfs	p.N1979fs	APC_uc011cvt.1_Frame_Shift_Del_p.N1961fs|APC_uc003kpz.3_Frame_Shift_Del_p.N1979fs|APC_uc003kpy.3_Frame_Shift_Del_p.N1979fs|APC_uc010jbz.2_Frame_Shift_Del_p.N1696fs|APC_uc010jca.2_Frame_Shift_Del_p.N1279fs	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1979	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACCAAGAAAACAACAATAAAG	0.338		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			-	112177228	C	-	112177228	7	5	7	1	0	1	0	1	0	0	0	0	763	477	17	0	5995	0	APC	5	112177228	Frame_Shift_Del	DEL	C	TCGA-BR-4191-01A-02D-1126-08	29301062	112177228	68738032	62	6861											
CEP120	153241	broad.mit.edu	37	chr5	122724215	122724215	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaatgatgtgatgttgctggTacagcaatcttctgtcctga	10	7	2	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:122724215T>A	uc003ktk.2	-	10	1423	c.1341A>T	c.(1339-1341)GTA>GTT	p.V447V	CEP120_uc011cwq.1_Silent_p.V256V|CEP120_uc010jcz.1_Silent_p.V421V	NM_153223	NP_694955	Q8N960	CE120_HUMAN	coiled-coil domain containing 100	447						centrosome				ovary(1)	1						ATGTTGCTGGTACAGCAATCT	0.398													A	122724215	T	A	122724215	2	1	7	1	0	0	0	0	0	0	0	1	3246	1625	57	5		5	CEP120	5	122724215	Silent	SNP	T	TCGA-BR-4191-01A-02D-1126-08	10546987	122724215	58191045	63	6862											
FBN2	2201	broad.mit.edu	37	chr5	127648476	127648476	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacttcaggtagcagttgcCcacacggttgtctgcagagc	11	11	2	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:127648476C>A	uc003kuu.2	-	37	5168	c.4729G>T	c.(4729-4731)GGC>TGC	p.G1577C		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1577	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TAGCAGTTGCCCACACGGTTG	0.502													A	127648476	C	A	127648476	3	1	7	1	0	0	0	0	1	0	0	0	5703	623	22	5	4125	5	FBN2	5	127648476	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	4924261	127648476	53266784	64	6863											
HARS	3035	broad.mit.edu	37	chr5	140056692	140056692	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggagcagctgttccaccaggGataccccacctggggagaca	13	13	0	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:140056692G>C	uc003lgv.2	-	9	915	c.833C>G	c.(832-834)TCC>TGC	p.S278C	HARS_uc003lgu.2_Missense_Mutation_p.S209C|HARS_uc011czm.1_Missense_Mutation_p.S238C|HARS_uc003lgw.2_Missense_Mutation_p.S258C|HARS_uc011czn.1_Missense_Mutation_p.S218C|HARS_uc010jfu.2_Missense_Mutation_p.S278C|HARS_uc011czo.1_Missense_Mutation_p.S204C|HARS_uc011czp.1_Missense_Mutation_p.S164C|HARS_uc011czq.1_Missense_Mutation_p.S168C	NM_002109	NP_002100	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	278					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TTCCACCAGGGATACCCCACC	0.532													C	140056692	G	C	140056692	3	2	7	1	0	0	0	0	1	0	0	0	6959	1174	41	5	716	5	HARS	5	140056692	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	12408216	140056692	40858568	65	6864											
ARAP3	64411	broad.mit.edu	37	chr5	141033869	141033869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcactgtccactcccgtGtggtggagaaggaggtagaa	14	9	1	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:141033869G>A	uc003llm.2	-	33	4361	c.4283C>T	c.(4282-4284)ACA>ATA	p.T1428I	ARAP3_uc003lll.2_Missense_Mutation_p.T379I|ARAP3_uc011dbe.1_Missense_Mutation_p.T1077I|ARAP3_uc003lln.2_Missense_Mutation_p.T1259I	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1428			T -> P (in a breast cancer sample; somatic mutation).		cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	p.T1428P(1)		breast(5)|ovary(1)|large_intestine(1)	7						CCACTCCCGTGTGGTGGAGAA	0.567													A	141033869	G	A	141033869	3	1	7	1	0	0	0	0	1	0	0	0	840	1377	48	4	355	4	ARAP3	5	141033869	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	977177	141033869	39881391	66	6865											
KIAA0141	9812	broad.mit.edu	37	chr5	141314074	141314074	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaggcccaagctttcctcGgggtgcttttcaccaaggag	11	13	1	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:141314074G>T	uc003lls.2	+	10	1194	c.1072G>T	c.(1072-1074)GGG>TGG	p.G358W	KIAA0141_uc003llt.2_Missense_Mutation_p.G358W|KIAA0141_uc003llu.1_RNA	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	hypothetical protein LOC9812 precursor	358	TPR 5.				apoptosis|regulation of caspase activity	mitochondrion	protein binding			skin(1)	1		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTTTCCTCGGGGTGCTTTT	0.532													T	141314074	G	T	141314074	3	4	7	1	0	0	0	0	1	0	0	0	8156	1116	39	5	1110	5	KIAA0141	5	141314074	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	280205	141314074	39601186	67	6866											
SPARC	6678	broad.mit.edu	37	chr5	151043744	151043744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagcgggtggtgcaatgctCcatggggatgaggggagcac	18	7	0	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:151043744C>T	uc003luh.2	-	8	811	c.787G>A	c.(787-789)GAG>AAG	p.E263K	GM2A_uc011dcs.1_Intron|SPARC_uc003lug.2_Missense_Mutation_p.E97K|SPARC_uc003lui.2_Missense_Mutation_p.E263K	NM_003118	NP_003109	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich	263	EF-hand.			E->A: Loss of collagen binding.	ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(1)	1		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	GTGCAATGCTCCATGGGGATG	0.607													T	151043744	C	T	151043744	3	4	7	1	0	0	0	0	1	0	0	0	14994	864	30	4	132	4	SPARC	5	151043744	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	9729670	151043744	29871516	68	6867											
DOCK2	1794	broad.mit.edu	37	chr5	169141060	169141061	+	Missense_Mutation	DNP	GC	GC	AT													caagaagatggaggatgccaGcgcatacctgacccttcctt							TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:169141060_169141061GC>AT	uc003maf.2	+	18	1768_1769	c.1688_1689GC>AT	c.(1687-1689)AGC>AAT	p.S563N	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.S55N|DOCK2_uc010jjl.1_Missense_Mutation_p.S81N	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	563	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGGATGCCAGCGCATACCTGA	0.579													AT	169141061	GC	AT	169141060	3	1	7	1	0	0	0	0	1	0	0	0	4687	971	34	2	1758	2	DOCK2	5	169141060	Missense_Mutation	DNP	GC	TCGA-BR-4191-01A-02D-1126-08	18097316	169141060	11774200	69	6868											
FOXI1	2299	broad.mit.edu	37	chr5	169533040	169533040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatcggccaggagccccccGagatgaacctctactatgag	11	14	1	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:169533040G>A	uc003mai.3	+	1	124	c.79G>A	c.(79-81)GAG>AAG	p.E27K	FOXI1_uc003maj.3_Missense_Mutation_p.E27K	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	27	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGCCCCCCGAGATGAACCT	0.697									Pendred_syndrome				A	169533040	G	A	169533040	3	1	7	1	0	0	0	0	1	0	0	0	6009	1059	37	1	81	1	FOXI1	5	169533040	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	391980	169533040	11382220	70	6869											
RREB1	6239	broad.mit.edu	37	chr6	7211167	7211167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcagagagagaagacccaGcaccagctaaaaaggtcctc	10	11	1	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr6:7211167G>A	uc003mxc.2	+	7	946	c.556G>A	c.(556-558)GCA>ACA	p.A186T	RREB1_uc010jnw.2_Missense_Mutation_p.A186T|RREB1_uc003mxb.2_Missense_Mutation_p.A186T|RREB1_uc010jnx.2_Missense_Mutation_p.A186T|RREB1_uc003mxd.2_Missense_Mutation_p.A186T	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	186					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGAAGACCCAGCACCAGCTAA	0.517													A	7211167	G	A	7211167	3	1	7	1	0	0	0	0	1	0	0	0	13679	971	34	2	570	2	RREB1	6	7211167	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08		7211167	163903900	71	6870											
NEDD9	4739	broad.mit.edu	37	chr6	11191199	11191199	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccgagttgcgggggtggGtgattcggggacaggctctg	20	7	1	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr6:11191199G>A	uc003mzv.2	-	5	1070	c.903C>T	c.(901-903)CAC>CAT	p.H301H	NEDD9_uc010joz.2_Silent_p.H301H|NEDD9_uc003mzw.3_Silent_p.H155H	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	301					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GCGGGGGTGGGTGATTCGGGG	0.567													A	11191199	G	A	11191199	2	1	7	1	0	0	0	0	0	0	0	1	10313	1252	44	4		4	NEDD9	6	11191199	Silent	SNP	G	TCGA-BR-4191-01A-02D-1126-08	3980032	11191199	159923868	72	6871											
ATXN1	6310	broad.mit.edu	37	chr6	16327558	16327558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtaccgccggctcttctcCatctcaccgttcaggacctc	7	19	4	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr6:16327558C>T	uc003nbt.2	-	8	1955	c.984G>A	c.(982-984)ATG>ATA	p.M328I	ATXN1_uc010jpi.2_Missense_Mutation_p.M328I|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	328					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGCTCTTCTCCATCTCACCGT	0.672													T	16327558	C	T	16327558	3	4	7	1	0	0	0	0	1	0	0	0	1209	594	21	4	1471	4	ATXN1	6	16327558	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	5136359	16327558	154787509	73	6872											
FLOT1	10211	broad.mit.edu	37	chr6	30697834	30697834	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtgagtctttccacacTctctggcaggcgagttagaa	11	11	2	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr6:30697834T>G	uc003nrm.2	-	12	1383	c.1219A>C	c.(1219-1221)AGT>CGT	p.S407R	FLOT1_uc011dmr.1_Missense_Mutation_p.S359R	NM_005803	NP_005794	O75955	FLOT1_HUMAN	flotillin 1	407						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction					0						CTTTCCACACTCTCTGGCAGG	0.542													G	30697834	T	G	30697834	3	3	7	1	0	0	0	0	1	0	0	0	5936	1551	54	5	72	5	FLOT1	6	30697834	Missense_Mutation	SNP	T	TCGA-BR-4191-01A-02D-1126-08	14370276	30697834	140417233	74	6873											
TNXB	7148	broad.mit.edu	37	chr6	32032696	32032696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctccaggcccgagatgGtgaccccatcctcgtgtccc	11	17	0	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr6:32032696G>A	uc003nzl.2	-	19	6945	c.6743C>T	c.(6742-6744)ACC>ATC	p.T2248I		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2320	Fibronectin type-III 15.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GCCCGAGATGGTGACCCCATC	0.612													A	32032696	G	A	32032696	3	1	7	1	0	0	0	0	1	0	0	0	16343	1261	44	4	8074	4	TNXB	6	32032696	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	1334862	32032696	139082371	75	6874											
TREML2	79865	broad.mit.edu	37	chr6	41162572	41162572	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcctctcagtttggggagCtgaaagacagaaagggagga	15	6	1	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr6:41162572C>T	uc010jxm.1	-	3	556	c.377_splice	c.e3-1	p.A126_splice		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid						T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTTTGGGGAGCTGAAAGACAG	0.547													T	41162572	C	T	41162572	5	4	7	1	0	0	0	0	0	0	1	0	16470	811	28	2	601	2	TREML2	6	41162572	Splice_Site	SNP	C	TCGA-BR-4191-01A-02D-1126-08	9129876	41162572	129952495	76	6875											
ZNF318	24149	broad.mit.edu	37	chr6	43323884	43323884	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggaaaaactctcaagCtgcaaagacaaacacaactg	7	11	1	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr6:43323884C>G	uc003oux.2	-	4	1267	c.1189_splice	c.e4-1	p.L397_splice	ZNF318_uc003ouw.2_Splice_Site	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318						meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AACTCTCAAGCTGCAAAGACA	0.423													G	43323884	C	G	43323884	5	3	7	1	0	0	0	0	0	0	1	0	17833	811	28	5	5679	5	ZNF318	6	43323884	Splice_Site	SNP	C	TCGA-BR-4191-01A-02D-1126-08	2161312	43323884	127791183	77	6876											
PKHD1	5314	broad.mit.edu	37	chr6	51513896	51513896	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagttacctgctcatccaaaAataccaattgtggctgcact	6	11	1	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr6:51513896A>C	uc003pah.1	-	62	11573	c.11297T>G	c.(11296-11298)TTT>TGT	p.F3766C		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3766	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CTCATCCAAAAATACCAATTG	0.418													C	51513896	A	C	51513896	3	2	7	1	0	0	0	0	1	0	0	0	11971	14	1	5	951	5	PKHD1	6	51513896	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08	8190012	51513896	119601171	78	6877											
SLC35A1	10559	broad.mit.edu	37	chr6	88210354	88210354	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaacaacatggctttcctagCtcttagcaatctggatgcag	9	10	2	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr6:88210354C>G	uc011dzj.1	+	3	402	c.323C>G	c.(322-324)GCT>GGT	p.A108G	SLC35A1_uc003plx.2_RNA|SLC35A1_uc010kbw.2_5'UTR|SLC35A1_uc003plz.2_Intron|SLC35A1_uc011dzi.1_Intron|SLC35A1_uc003ply.2_RNA|SLC35A1_uc010kbx.2_Missense_Mutation_p.A108G|SLC35A1_uc010kby.2_RNA	NM_006416	NP_006407	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid	108	Helical; (Potential).				carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity				0		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GCTTTCCTAGCTCTTAGCAAT	0.388													G	88210354	C	G	88210354	3	3	7	1	0	0	0	0	1	0	0	0	14570	797	28	5	333	5	SLC35A1	6	88210354	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	36696458	88210354	82904713	79	6878											
RTN4IP1	84816	broad.mit.edu	37	chr6	107067186	107067186	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtatgagtgagtgattTgggtttgtgagagacctaca	14	3	0	6			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr6:107067186T>G	uc003prj.2	-	4	988	c.511A>C	c.(511-513)AAA>CAA	p.K171Q	RTN4IP1_uc010kdd.2_Missense_Mutation_p.K171Q|RTN4IP1_uc003prk.2_Missense_Mutation_p.K71Q	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1 precursor	171						mitochondrion	oxidoreductase activity|zinc ion binding				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		GTGAGTGATTTGGGTTTGTGA	0.413													G	107067186	T	G	107067186	3	3	7	1	0	0	0	0	1	0	0	0	13729	1821	63	5	703	5	RTN4IP1	6	107067186	Missense_Mutation	SNP	T	TCGA-BR-4191-01A-02D-1126-08	18856832	107067186	64047881	80	6879											
FIG4	9896	broad.mit.edu	37	chr6	110048374	110048374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctaaaaggaggaagatggcgGatattggaggtcatgcaatc	14	5	1	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr6:110048374G>A	uc003ptt.2	+	4	567	c.352G>A	c.(352-354)GAT>AAT	p.D118N	FIG4_uc011eau.1_Intron	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	118					cell death	endosome membrane	protein binding			ovary(1)	1		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GAAGATGGCGGATATTGGAGG	0.338													A	110048374	G	A	110048374	3	1	7	1	0	0	0	0	1	0	0	0	5888	1174	41	4	366	4	FIG4	6	110048374	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	2981188	110048374	61066693	81	6880											
FGL2	10875	broad.mit.edu	37	chr7	76825675	76825675	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccaccagggtgtgcctcaCttacaccaggccaggtaccc	10	16	1	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:76825675C>A	uc003ugb.2	-	2	1281	c.1241G>T	c.(1240-1242)AGT>ATT	p.S414I	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	fibrinogen-like 2 precursor	414	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			skin(2)	2						GTGTGCCTCACTTACACCAGG	0.438													A	76825675	C	A	76825675	3	1	7	1	0	0	0	0	1	0	0	0	5873	565	20	5	82	5	FGL2	7	76825675	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08		76825675	82312988	82	6881											
SEMA3E	9723	broad.mit.edu	37	chr7	83021901	83021901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcctgttgggtaatacCgggagcaggatatgccatcc	14	9	0	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:83021901C>T	uc003uhy.1	-	14	2103	c.1637G>A	c.(1636-1638)CGG>CAG	p.R546Q		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	546					axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				TGGGTAATACCGGGAGCAGGA	0.453													T	83021901	C	T	83021901	3	4	7	1	0	0	0	0	1	0	0	0	14028	652	23	1	706	1	SEMA3E	7	83021901	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	6196226	83021901	76116762	83	6882											
AKAP9	10142	broad.mit.edu	37	chr7	91631763	91631778	+	Frame_Shift_Del	DEL	AAAGCAAAGGAACACT	AAAGCAAAGGAACACT	-													cagctaaatgaagagattgaAaagcaaaggaacactttttc							TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:91631762_91631777AAAAGCAAAGGAACACT>A	uc003ulg.3	+	7	2756_2771	c.2531_2546AAAAGCAAAGGAACACT>A	c.(2530-2547)gaaaagcaaaggaacactfs	p.E844fs	AKAP9_uc003ule.2_Frame_Shift_Del_p.E856fs|AKAP9_uc003ulf.3_Frame_Shift_Del_p.E844fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.E469fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	856	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding	p.R847K(1)|p.R859K(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAGAGATTGAAAAGCAAAGGAACACTTTTTCATTT	0.324			T	BRAF	papillary thyroid								-	91631778	AAAGCAAAGGAACACT	-	91631763	7	5	7	1	0	1	0	1	0	0	0	0	459	11	1	0	2562	0	AKAP9	7	91631763	Frame_Shift_Del	DEL	AAAGCAAAGGAACACT	TCGA-BR-4191-01A-02D-1126-08	8609862	91631763	67506900	84	6883											
OR2AE1	81392	broad.mit.edu	37	chr7	99474447	99474447	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgtggagacatgcatcagAtccatgagggagagctggct	14	7	1	4			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:99474447A>G	uc003usc.1	-	1	210	c.210T>C	c.(208-210)GAT>GAC	p.D70D		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE,	70	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CATGCATCAGATCCATGAGGG	0.498													G	99474447	A	G	99474447	2	3	7	1	0	0	0	0	0	0	0	1	10983	330	12	3		3	OR2AE1	7	99474447	Silent	SNP	A	TCGA-BR-4191-01A-02D-1126-08	7842684	99474447	59664216	85	6884											
GIGYF1	64599	broad.mit.edu	37	chr7	100283967	100283967	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccccgcccctcctcttcacCacaccctcctcgatcccctc	2	26	2	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:100283967C>G	uc003uwg.1	-	8	1793	c.784G>C	c.(784-786)GGT>CGT	p.G262R		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	262										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCCTCTTCACCACACCCTCCT	0.642													G	100283967	C	G	100283967	3	3	7	1	0	0	0	0	1	0	0	0	6377	594	21	5	2391	5	GIGYF1	7	100283967	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	809520	100283967	58854696	86	6885											
COG5	10466	broad.mit.edu	37	chr7	106871079	106871079	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cctgaatgatctcagcatccGataggactttcctaaatcag	7	11	2	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:106871079G>C	uc003ved.2	-	18	2704	c.2179C>G	c.(2179-2181)CGG>GGG	p.R727G	COG5_uc003vec.2_Missense_Mutation_p.R748G|COG5_uc003vee.2_Missense_Mutation_p.R748G	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	727					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						CTCAGCATCCGATAGGACTTT	0.343													C	106871079	G	C	106871079	3	2	7	1	0	0	0	0	1	0	0	0	3661	1057	37	5	360	5	COG5	7	106871079	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	6587112	106871079	52267584	87	6886											
LAMB4	22798	broad.mit.edu	37	chr7	107744978	107744991	+	Frame_Shift_Del	DEL	CCTCCAAGGAGCAT	CCTCCAAGGAGCAT	-													tcctggaggtctgcagctggCctccaaggagcatcctggaa							TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:107744977_107744990GCCTCCAAGGAGCAT>G	uc010ljo.1	-	8	1029_1042	c.945_958ATGCTCCTTGGAGGC>C	c.(943-960)gatgctccttggaggccafs	p.D315fs	LAMB4_uc003vey.2_Frame_Shift_Del_p.D315fs	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	315	Laminin EGF-like 1.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCTGCAGCTGGCCTCCAAGGAGCATCCTGGAAGA	0.486													-	107744991	CCTCCAAGGAGCAT	-	107744978	7	5	7	1	0	1	0	1	0	0	0	0	8613	738	26	0	4432	0	LAMB4	7	107744978	Frame_Shift_Del	DEL	CCTCCAAGGAGCAT	TCGA-BR-4191-01A-02D-1126-08	873899	107744978	51393685	88	6887											
CAV1	857	broad.mit.edu	37	chr7	116199067	116199067	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgacggcatttggaaggccaGcttcaccaccttcactgtga	10	12	2	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:116199067G>C	uc003vif.1	+	3	541	c.263G>C	c.(262-264)AGC>ACC	p.S88T	CAV1_uc010lkd.1_Missense_Mutation_p.S57T|CAV1_uc010lke.1_Missense_Mutation_p.S57T|CAV1_uc003vig.1_RNA|CAV1_uc003vih.2_Missense_Mutation_p.S57T|CAV1_uc010lkf.1_Missense_Mutation_p.S57T	NM_001753	NP_001744	Q03135	CAV1_HUMAN	caveolin 1	88	Cytoplasmic (Potential).				blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization	apical plasma membrane|basolateral plasma membrane|caveola|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm	cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding				0	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			TGGAAGGCCAGCTTCACCACC	0.478													C	116199067	G	C	116199067	3	2	7	1	0	0	0	0	1	0	0	0	2693	971	34	5	273	5	CAV1	7	116199067	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	8454089	116199067	42939596	89	6888											
PLXNA4	91584	broad.mit.edu	37	chr7	132192842	132192842	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctcagagttcttggtcAgtttccggctggagatggtg	14	10	3	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:132192842A>C	uc003vra.3	-	2	840	c.611T>G	c.(610-612)CTG>CGG	p.L204R	PLXNA4_uc003vrc.2_Missense_Mutation_p.L204R|PLXNA4_uc003vrb.2_Missense_Mutation_p.L204R	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	204	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GTTCTTGGTCAGTTTCCGGCT	0.532													C	132192842	A	C	132192842	3	2	7	1	0	0	0	0	1	0	0	0	12122	188	7	5	5511	5	PLXNA4	7	132192842	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08	15993775	132192842	26945821	90	6889											
WDR91	29062	broad.mit.edu	37	chr7	134893650	134893658	+	In_Frame_Del	DEL	GGCAGGAAG	GGCAGGAAG	-													tggggttggtgtccggggatGgcaggaagggcaggacaaac							TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:134893649_134893657TGGCAGGAAG>T	uc003vsp.2	-	2	459_467	c.397_405CTTCCTGCCA>A	c.(397-405)ttcctgcca>A	p.FLP133del	WDR91_uc010lmr.2_5'Flank|WDR91_uc010lmq.2_5'Flank	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	Homo sapiens WD repeat domain 91 (WDR91), mRNA.	133										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGTCCGGGGATGGCAGGAAGGGCAGGACA	0.531													-	134893658	GGCAGGAAG	-	134893650	7	5	7	1	0	1	0	1	0	0	0	0	17335	1348	47	0	1891	0	WDR91	7	134893650	In_Frame_Del	DEL	GGCAGGAAG	TCGA-BR-4191-01A-02D-1126-08	2700808	134893650	24245013	91	6890											
STRA8	346673	broad.mit.edu	37	chr7	134927608	134927608	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataatttgctgaagctgaaaGgtaatggagcactacttgcc	10	7	0	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:134927608G>T	uc011kpx.1	+	3	334	c.334G>T	c.(334-336)GCA>TCA	p.A112S		NM_182489	NP_872295	Q7Z7C7	STRA8_HUMAN	STRA8	112	Potential.				DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus					0						GAAGCTGAAAGGTAATGGAGC	0.418													T	134927608	G	T	134927608	3	4	7	1	0	0	0	0	1	0	0	0	15322	1014	35	5	344	5	STRA8	7	134927608	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	33958	134927608	24211055	92	6891											
LUC7L2	51631	broad.mit.edu	37	chr7	139106914	139106914	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	attaatatttttcagatcctCaaaagaaagattcagagacc	5	7	3	4			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:139106914C>G	uc003vux.2	+	10	1381	c.1007C>G	c.(1006-1008)TCA>TGA	p.S336*	LUC7L2_uc011kqs.1_Nonsense_Mutation_p.S333*|LUC7L2_uc011kqt.1_Nonsense_Mutation_p.S402*|LUC7L2_uc003vuy.2_Nonsense_Mutation_p.S335*|LUC7L2_uc003vva.2_Nonsense_Mutation_p.S283*	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN	LUC7-like 2	336	Arg/Ser-rich.						enzyme binding|metal ion binding				0	Melanoma(164;0.242)					TTCAGATCCTCAAAAGAAAGA	0.373													G	139106914	C	G	139106914	4	3	7	1	0	0	0	0	0	1	0	0	9083	838	29	5	1045	5	LUC7L2	7	139106914	Nonsense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	4179306	139106914	20031749	93	6892											
TAS2R60	338398	broad.mit.edu	37	chr7	143140947	143140947	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgtcttcttctggctaaaGcacaagttgtctgggtggct	11	10	4	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:143140947G>T	uc011ktg.1	+	1	402	c.402G>T	c.(400-402)AAG>AAT	p.K134N	uc003wda.2_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	134	Helical; Name=4; (Potential).				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			skin(6)	6	Melanoma(164;0.172)					TCTGGCTAAAGCACAAGTTGT	0.478													T	143140947	G	T	143140947	3	4	7	1	0	0	0	0	1	0	0	0	15582	962	34	5	404	5	TAS2R60	7	143140947	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	4034033	143140947	15997716	94	6893											
KCNH2	3757	broad.mit.edu	37	chr7	150645985	150645985	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggctggaccagaagtGgtcggagaactcagggtaca	14	10	1	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:150645985G>C	uc003wic.2	-	10	2564	c.2551C>G	c.(2551-2553)CAC>GAC	p.H851D	KCNH2_uc003wib.2_Missense_Mutation_p.H511D|KCNH2_uc011kux.1_Missense_Mutation_p.H755D	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	851	Cytoplasmic (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GACCAGAAGTGGTCGGAGAAC	0.577													C	150645985	G	C	150645985	3	2	7	1	0	0	0	0	1	0	0	0	8032	1348	47	5	952	5	KCNH2	7	150645985	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	7505038	150645985	8492678	95	6894											
NAT2	10	broad.mit.edu	37	chr8	18258347	18258347	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatttccttggggagaaaTctcgtgcccaaacctggtga	11	9	1	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr8:18258347T>C	uc003wyw.1	+	2	941	c.834T>C	c.(832-834)AAT>AAC	p.N278N		NM_000015	NP_000006	P11245	ARY2_HUMAN	N-acetyltransferase 2	278					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			ovary(1)|skin(1)	2				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TGGGGAGAAATCTCGTGCCCA	0.313									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				C	18258347	T	C	18258347	2	2	7	1	0	0	0	0	0	0	0	1	10177	1432	50	3		3	NAT2	8	18258347	Silent	SNP	T	TCGA-BR-4191-01A-02D-1126-08		18258347	128105675	96	6895											
CDH17	1015	broad.mit.edu	37	chr8	95186418	95186418	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggaagctggatgacaatctgGtaataaagctggccattggg	14	6	1	1	rs139340016		TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr8:95186418G>C	uc003ygh.2	-	6	620	c.495C>G	c.(493-495)TAC>TAG	p.Y165*	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Nonsense_Mutation_p.Y165*	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	165	Extracellular (Potential).|Cadherin 2.					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TGACAATCTGGTAATAAAGCT	0.458													C	95186418	G	C	95186418	4	2	7	1	0	0	0	0	0	1	0	0	3102	1256	44	5	2055	5	CDH17	8	95186418	Nonsense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	76928071	95186418	51177604	97	6896											
PGCP	10404	broad.mit.edu	37	chr8	97797143	97797143	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaatgaaattccttatcttCgcatttttcggtggtgttca	7	7	2	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr8:97797143C>T	uc003yhw.2	+	2	184	c.18C>T	c.(16-18)TTC>TTT	p.F6F	PGCP_uc010mbe.2_Silent_p.F6F	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	plasma glutamate carboxypeptidase precursor	6					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity			upper_aerodigestive_tract(1)	1	Breast(36;1.86e-05)					TCCTTATCTTCGCATTTTTCG	0.333													T	97797143	C	T	97797143	2	4	7	1	0	0	0	0	0	0	0	1	11786	883	31	1		1	PGCP	8	97797143	Silent	SNP	C	TCGA-BR-4191-01A-02D-1126-08	2610725	97797143	48566879	98	6897											
POP1	10940	broad.mit.edu	37	chr8	99148887	99148887	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaatgctaaaccaattAaaaaaattatcggtgatgga	8	4	0	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr8:99148887A>T	uc003yij.3	+	8	1289	c.1189A>T	c.(1189-1191)AAA>TAA	p.K397*	POP1_uc011lgv.1_Nonsense_Mutation_p.K397*|POP1_uc003yik.2_Nonsense_Mutation_p.K397*	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	397					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TAAACCAATTAAAAAAATTAT	0.373													T	99148887	A	T	99148887	4	4	7	1	0	0	0	0	0	1	0	0	12251	363	13	5	1215	5	POP1	8	99148887	Nonsense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08	1351744	99148887	47215135	99	6898											
RGS22	26166	broad.mit.edu	37	chr8	101105676	101105676	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcataataataaactcactGgaaggcttaggaattcatta	6	6	3	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr8:101105676G>T	uc003yjb.1	-	3	311	c.116C>A	c.(115-117)CCA>CAA	p.P39Q	RGS22_uc003yja.1_5'UTR|RGS22_uc003yjc.1_Missense_Mutation_p.P39Q|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	39					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TAAACTCACTGGAAGGCTTAG	0.279													T	101105676	G	T	101105676	3	4	7	1	0	0	0	0	1	0	0	0	13305	1362	47	5	3778	5	RGS22	8	101105676	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	1956789	101105676	45258346	100	6899											
PKHD1L1	93035	broad.mit.edu	37	chr8	110416883	110416883	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atactgaacaacaaacaggaGatgcagtgaatgaagaacaa	9	6	0	5			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr8:110416883G>C	uc003yne.2	+	15	1578	c.1474G>C	c.(1474-1476)GAT>CAT	p.D492H		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	492	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACAAACAGGAGATGCAGTGAA	0.373										HNSCC(38;0.096)			C	110416883	G	C	110416883	3	2	7	1	0	0	0	0	1	0	0	0	11972	942	33	5	1532	5	PKHD1L1	8	110416883	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	9311207	110416883	35947139	101	6900											
CSMD3	114788	broad.mit.edu	37	chr8	113694835	113694835	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gccgtgcattgattggtattCcaggatcagggcattcatta	11	8	2	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr8:113694835C>G	uc003ynu.2	-	16	2672	c.2513G>C	c.(2512-2514)GGA>GCA	p.G838A	CSMD3_uc003yns.2_Missense_Mutation_p.G110A|CSMD3_uc003ynt.2_Missense_Mutation_p.G798A|CSMD3_uc011lhx.1_Missense_Mutation_p.G734A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	838	Sushi 4.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GATTGGTATTCCAGGATCAGG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113694835	C	G	113694835	3	3	7	1	0	0	0	0	1	0	0	0	3946	855	30	5	8834	5	CSMD3	8	113694835	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	3277952	113694835	32669187	102	6901											
TRPS1	7227	broad.mit.edu	37	chr8	116426704	116426704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggatttggtaggccaggCacgtgactcaagtagtgcgg	15	8	1	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr8:116426704C>T	uc003ynz.2	-	6	3852	c.3393G>A	c.(3391-3393)GTG>GTA	p.V1131V	TRPS1_uc011lhy.1_Silent_p.V1135V|TRPS1_uc003yny.2_Silent_p.V1144V|TRPS1_uc010mcy.2_Silent_p.V1131V	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1131	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GTAGGCCAGGCACGTGACTCA	0.468									Langer-Giedion_syndrome				T	116426704	C	T	116426704	2	4	7	1	0	0	0	0	0	0	0	1	16590	697	25	2		2	TRPS1	8	116426704	Silent	SNP	C	TCGA-BR-4191-01A-02D-1126-08	2731869	116426704	29937318	103	6902											
ZNF16	7564	broad.mit.edu	37	chr8	146156265	146156265	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accgaacgctgactgaaggcTttcccacactcactgcattt	7	14	1	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr8:146156265T>A	uc003zet.2	-	4	2095	c.1908A>T	c.(1906-1908)AAA>AAT	p.K636N	ZNF16_uc003zeu.2_Missense_Mutation_p.K636N	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	636	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GACTGAAGGCTTTCCCACACT	0.547													A	146156265	T	A	146156265	3	1	7	1	0	0	0	0	1	0	0	0	17735	1606	56	5	144	5	ZNF16	8	146156265	Missense_Mutation	SNP	T	TCGA-BR-4191-01A-02D-1126-08	29729561	146156265	207757	104	6903											
JAK2	3717	broad.mit.edu	37	chr9	5090820	5090839	+	Frame_Shift_Del	DEL	GTTAAAATTGGAGATTTTGG	GTTAAAATTGGAGATTTTGG	-													tggtggagaacgagaacagaGttaaaattggagattttggg							TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr9:5090819_5090838AGTTAAAATTGGAGATTTTGG>A	uc010mhm.3	+	20	3080_3099	c.2967_2986AGTTAAAATTGGAGATTTTGG>A	c.(2965-2988)agagttaaaattggagattttgggfs	p.R989fs	JAK2_uc003ziw.3_Frame_Shift_Del_p.R989fs	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	989	Protein kinase 2.				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding	p.V990L(2)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		ACGAGAACAGAGTTAAAATTGGAGATTTTGGGTTAACCAA	0.355		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				-	5090839	GTTAAAATTGGAGATTTTGG	-	5090820	7	5	7	1	0	1	0	1	0	0	0	0	7938	1029	36	0	3046	0	JAK2	9	5090820	Frame_Shift_Del	DEL	GTTAAAATTGGAGATTTTGG	TCGA-BR-4191-01A-02D-1126-08		5090820	136122611	105	6904											
PRKACG	5568	broad.mit.edu	37	chr9	71628351	71628351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctagggcccaccagtccaCggccttgttgtagcctttgc	10	16	0	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr9:71628351C>T	uc004agy.2	-	1	689	c.658G>A	c.(658-660)GTG>ATG	p.V220M		NM_002732	NP_002723	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic,	220	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			ovary(1)|pancreas(1)|skin(1)	3						CACCAGTCCACGGCCTTGTTG	0.617													T	71628351	C	T	71628351	3	4	7	1	0	0	0	0	1	0	0	0	12499	536	19	1	401	1	PRKACG	9	71628351	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	66537531	71628351	69585080	106	6905											
C9orf103	414328	broad.mit.edu	37	chr9	86258577	86258577	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatgccccctgaattattgcAgtcccagtttgagactctgg	9	11	1	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr9:86258577A>T	uc004amu.1	+	5	460	c.446A>T	c.(445-447)CAG>CTG	p.Q149L	C9orf103_uc004amt.1_Missense_Mutation_p.Q103L|C9orf103_uc010mpv.1_Missense_Mutation_p.Q103L	NM_001001551	NP_001001551	Q5T6J7	GNTK_HUMAN	gluconokinase-like protein	149					carbohydrate metabolic process	cytoplasm	ATP binding|gluconokinase activity|shikimate kinase activity				0						GAATTATTGCAGTCCCAGTTT	0.458													T	86258577	A	T	86258577	3	4	7	1	0	0	0	0	1	0	0	0	2446	188	7	5	318	5	C9orf103	9	86258577	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08	14630226	86258577	54954854	107	6906											
ZNF169	169841	broad.mit.edu	37	chr9	97062923	97062923	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttgccagaaggcatcactCctccagcaccagagctcaca	7	15	2	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr9:97062923C>T	uc004aum.1	+	5	1188	c.1083C>T	c.(1081-1083)CTC>CTT	p.L361L		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	361	C2H2-type 5.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				AGGCATCACTCCTCCAGCACC	0.582													T	97062923	C	T	97062923	2	4	7	1	0	0	0	0	0	0	0	1	17739	842	30	4		4	ZNF169	9	97062923	Silent	SNP	C	TCGA-BR-4191-01A-02D-1126-08	10804346	97062923	44150508	108	6907											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123330664	123330664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttctgacacatttgggaGcactgtaaaaaggtaaaata	8	6	2	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr9:123330664G>A	uc004bkf.2	-	3	311	c.130C>T	c.(130-132)CTC>TTC	p.L44F	CDK5RAP2_uc004bkg.2_Missense_Mutation_p.L44F|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.L44F	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	44					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						ACATTTGGGAGCACTGTAAAA	0.438													A	123330664	G	A	123330664	3	1	7	1	0	0	0	0	1	0	0	0	3146	971	34	2	5695	2	CDK5RAP2	9	123330664	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	26267741	123330664	17882767	109	6908											
GLE1	2733	broad.mit.edu	37	chr9	131295922	131295937	+	Splice_Site	DEL	AGAGAAATTTGTGGTG	AGAGAAATTTGTGGTG	-													tttgttcaatacaaactggcAgagaaatttgtggtgagaaa							TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr9:131295921_131295936CAGAGAAATTTGTGGTG>C	uc004bvj.3	+	10	1569	c.1455_splice	c.e10+1	p.V485_splice	GLE1_uc004bvi.3_Splice_Site_p.V485_splice|GLE1_uc010myd.3_Splice_Site_p.V231_splice	NM_001003722	NP_001003722	Q53GS7	GLE1_HUMAN	Homo sapiens GLE1 RNA export mediator homolog (yeast) (GLE1), transcript variant 1, mRNA.	485					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						TACAAACTGGCAGAGAAATTTGTGGTGAGAAACCTT	0.454													-	131295937	AGAGAAATTTGTGGTG	-	131295922	8	5	7	1	0	1	0	1	0	0	1	0	6435	175	7	0	1481	0	GLE1	9	131295922	Splice_Site	DEL	AGAGAAATTTGTGGTG	TCGA-BR-4191-01A-02D-1126-08	7965258	131295922	9917509	110	6909											
ASB6	140459	broad.mit.edu	37	chr9	132400887	132400887	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgaatgttctcagtattgTggatctgcaccccgtcgctg	11	11	2	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr9:132400887T>C	uc004byf.1	-	5	729	c.563A>G	c.(562-564)CAC>CGC	p.H188R	ASB6_uc004bye.1_Missense_Mutation_p.H113R|ASB6_uc004byg.1_Missense_Mutation_p.T152A|ASB6_uc011mbt.1_Missense_Mutation_p.H109R|ASB6_uc010myx.1_Intron	NM_017873	NP_060343	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box-containing 6 isoform	188	ANK 4.				intracellular signal transduction	cytoplasm					0		Ovarian(14;0.00556)				CTCAGTATTGTGGATCTGCAC	0.602													C	132400887	T	C	132400887	3	2	7	1	0	0	0	0	1	0	0	0	1027	1696	59	3	710	3	ASB6	9	132400887	Missense_Mutation	SNP	T	TCGA-BR-4191-01A-02D-1126-08	1104965	132400887	8812544	111	6910											
BRD3	8019	broad.mit.edu	37	chr9	136907050	136907050	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgggctcatctggcatcttGgcaaacctcatctcaaacac	7	14	5	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr9:136907050G>C	uc004cew.2	-	8	1427	c.1239C>G	c.(1237-1239)GCC>GCG	p.A413A	BRD3_uc004cex.2_Silent_p.A413A	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	413						nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTGGCATCTTGGCAAACCTCA	0.652			T	NUT|C15orf55	lethal midline carcinoma of young people								C	136907050	G	C	136907050	2	2	7	1	0	0	0	0	0	0	0	1	1503	1335	47	5		5	BRD3	9	136907050	Silent	SNP	G	TCGA-BR-4191-01A-02D-1126-08	4506163	136907050	4306381	112	6911											
ITIH5	80760	broad.mit.edu	37	chr10	7608346	7608346	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggaggggcgggtgccccaAttaactctccgttcactgtg	13	11	2	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr10:7608346A>G	uc001ijq.2	-	13	2253	c.2174T>C	c.(2173-2175)ATT>ACT	p.I725T	ITIH5_uc001ijp.2_Missense_Mutation_p.I511T	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	725					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						GGGTGCCCCAATTAACTCTCC	0.398													G	7608346	A	G	7608346	3	3	7	1	0	0	0	0	1	0	0	0	7907	101	4	3	704	3	ITIH5	10	7608346	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08		7608346	127926401	113	6912											
BMI1	648	broad.mit.edu	37	chr10	22617625	22617625	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggacatacctaatactttcCaggtatctacttttatattc	4	9	1	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr10:22617625C>G	uc001irh.2	+	8	1207	c.568C>G	c.(568-570)CAG>GAG	p.Q190E	BMI1_uc009xkg.2_Missense_Mutation_p.Q333E	NM_005180	NP_005171	P35226	BMI1_HUMAN	BMI1 polycomb ring finger oncogene	190	Interaction with E4F1.				hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			ovary(1)|skin(1)	2						TAATACTTTCCAGGTATCTAC	0.299													G	22617625	C	G	22617625	3	3	7	1	0	0	0	0	1	0	0	0	1455	595	21	5	594	5	BMI1	10	22617625	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	15009279	22617625	112917122	114	6913											
STOX1	219736	broad.mit.edu	37	chr10	70645583	70645583	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttttggattacccagttggCgtgaaccctttaagacaagc	9	10	0	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr10:70645583C>A	uc001jos.2	+	3	2118	c.2031C>A	c.(2029-2031)GGC>GGA	p.G677G	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Silent_p.G567G	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	677						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2						ACCCAGTTGGCGTGAACCCTT	0.428													A	70645583	C	A	70645583	2	1	7	1	0	0	0	0	0	0	0	1	15318	755	27	5		5	STOX1	10	70645583	Silent	SNP	C	TCGA-BR-4191-01A-02D-1126-08	48027958	70645583	64889164	115	6914											
AIFM2	84883	broad.mit.edu	37	chr10	71876517	71876517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggcagctcctccagattGctcacccgctcacctagaag	9	15	2	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr10:71876517G>A	uc010qjg.1	-	6	643	c.630C>T	c.(628-630)AGC>AGT	p.S210S	AIFM2_uc001jqp.1_Silent_p.S210S	NM_032797	NP_116186	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor (AIF)-like	210					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)	1						CCTCCAGATTGCTCACCCGCT	0.597											OREG0020234	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	71876517	G	A	71876517	2	1	7	1	0	0	0	0	0	0	0	1	427	1310	46	2		2	AIFM2	10	71876517	Silent	SNP	G	TCGA-BR-4191-01A-02D-1126-08	1230934	71876517	63658230	116	6915											
KIAA0913	23053	broad.mit.edu	37	chr10	75549954	75549954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacagcagggccctcagcatCggaccagagtacttggtatc	11	13	1	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr10:75549954C>T	uc009xrl.2	+	7	877	c.845C>T	c.(844-846)TCG>TTG	p.S282L	KIAA0913_uc001jve.2_Missense_Mutation_p.S282L|KIAA0913_uc001jvf.2_Missense_Mutation_p.S282L|KIAA0913_uc001jvh.2_5'Flank|KIAA0913_uc001jvi.2_5'Flank|KIAA0913_uc010qkr.1_5'Flank|KIAA0913_uc001jvj.2_5'Flank	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	282							zinc ion binding			breast(1)	1	Prostate(51;0.0112)					CCCTCAGCATCGGACCAGAGT	0.517													T	75549954	C	T	75549954	3	4	7	1	0	0	0	0	1	0	0	0	8200	893	31	1	871	1	KIAA0913	10	75549954	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	3673437	75549954	59984793	117	6916											
GRID1	2894	broad.mit.edu	37	chr10	87484277	87484277	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaatgcaggcccacacagCgaaatcaaatggagcaaaga	10	10	1	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr10:87484277C>A	uc001kdl.1	-	11	1791	c.1690G>T	c.(1690-1692)GCT>TCT	p.A564S	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.A135S	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	564	Helical; (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	GCCCACACAGCGAAATCAAAT	0.512										Multiple Myeloma(13;0.14)			A	87484277	C	A	87484277	3	1	7	1	0	0	0	0	1	0	0	0	6771	768	27	5	1363	5	GRID1	10	87484277	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	11934323	87484277	48050470	118	6917											
IFIT3	3437	broad.mit.edu	37	chr10	91099742	91099742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttatgagaaggaactgggcCgcctgctaagggatgcccct	14	10	0	1	rs113402097		TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr10:91099742C>T	uc001kgf.2	+	2	1559	c.1330C>T	c.(1330-1332)CGC>TGC	p.R444C	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Missense_Mutation_p.R444C	NM_001549	NP_001540	O14879	IFIT3_HUMAN	interferon-induced protein with	444	TPR 7.				type I interferon-mediated signaling pathway		protein binding			central_nervous_system(1)	1						GGAACTGGGCCGCCTGCTAAG	0.483													T	91099742	C	T	91099742	3	4	7	1	0	0	0	0	1	0	0	0	7524	652	23	1	1345	1	IFIT3	10	91099742	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	3615465	91099742	44435005	119	6918											
C10orf12	26148	broad.mit.edu	37	chr10	98741419	98741419	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccatcttcactctctgggaaGaaataaggtgggttaccatt	9	9	3	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr10:98741419G>T	uc001kmv.2	+	1	379	c.272G>T	c.(271-273)AGA>ATA	p.R91I	C10orf12_uc009xvg.1_Missense_Mutation_p.R401I	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	91										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TCTCTGGGAAGAAATAAGGTG	0.453													T	98741419	G	T	98741419	3	4	7	1	0	0	0	0	1	0	0	0	1589	942	33	5	274	5	C10orf12	10	98741419	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	7641677	98741419	36793328	120	6919											
RRP12	23223	broad.mit.edu	37	chr10	99140565	99140565	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tccccactcaccttcctcatCacagggtgggcctgtctccc	7	19	4	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr10:99140565C>G	uc001knf.2	-	13	1663	c.1524G>C	c.(1522-1524)GTG>GTC	p.V508V	RRP12_uc009xvm.2_Silent_p.V226V|RRP12_uc010qou.1_Silent_p.V447V|RRP12_uc009xvn.2_Silent_p.V408V	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	508						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CCTTCCTCATCACAGGGTGGG	0.493													G	99140565	C	G	99140565	2	3	7	1	0	0	0	0	0	0	0	1	13686	813	29	5		5	RRP12	10	99140565	Silent	SNP	C	TCGA-BR-4191-01A-02D-1126-08	399146	99140565	36394182	121	6920											
C10orf81	79949	broad.mit.edu	37	chr10	115534093	115534093	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgagccaatggaatcctaGtaagtcaaaatgccgtttca	8	8	2	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr10:115534093G>A	uc001lat.1	+	8	1323	c.761_splice	c.e8+1	p.Y254_splice	C10orf81_uc001lar.1_Splice_Site_p.Y260_splice|C10orf81_uc009xyc.1_Splice_Site_p.Y172_splice|C10orf81_uc001las.1_Splice_Site_p.Y172_splice|C10orf81_uc001lau.1_Splice_Site_p.Y74_splice	NM_024889	NP_079165	Q5SXH7	CJ081_HUMAN	hypothetical protein LOC79949											central_nervous_system(1)	1		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		TGGAATCCTAGTAAGTCAAAA	0.378													A	115534093	G	A	115534093	5	1	7	1	0	0	0	0	0	0	1	0	1619	1043	36	4	810	4	C10orf81	10	115534093	Splice_Site	SNP	G	TCGA-BR-4191-01A-02D-1126-08	16393528	115534093	20000654	122	6921											
OR51B4	79339	broad.mit.edu	37	chr11	5323107	5323107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaaggacatagagatccGgtagtgaactgcctctgagc	12	8	1	4			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr11:5323107G>A	uc010qza.1	-	1	70	c.70C>T	c.(70-72)CGG>TGG	p.R24W	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B,	24	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATAGAGATCCGGTAGTGAACT	0.468											OREG0003718	type=REGULATORY REGION|Gene=OR51B4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	5323107	G	A	5323107	3	1	7	1	0	0	0	0	1	0	0	0	11090	1115	39	1	865	1	OR51B4	11	5323107	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08		5323107	129683409	123	6922											
OR6A2	8590	broad.mit.edu	37	chr11	6816879	6816879	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tagtacctgtagtggcgcagGagcagggaagcccagcaaca	14	10	0	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr11:6816879G>C	uc001mes.1	-	1	261	c.61C>G	c.(61-63)CCT>GCT	p.P21A		NM_003696	NP_003687	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A,	21	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTGGCGCAGGAGCAGGGAAG	0.493													C	6816879	G	C	6816879	3	2	7	1	0	0	0	0	1	0	0	0	11186	1174	41	5	926	5	OR6A2	11	6816879	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	1493772	6816879	128189637	124	6923											
SOX6	55553	broad.mit.edu	37	chr11	16007941	16007941	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taataaggttgcttctcctgGttggacattgatttccagcg	10	8	1	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr11:16007941G>C	uc001mme.2	-	15	2064	c.2031C>G	c.(2029-2031)AAC>AAG	p.N677K	SOX6_uc001mmd.2_Missense_Mutation_p.N640K|SOX6_uc001mmf.2_Missense_Mutation_p.N637K|SOX6_uc001mmg.2_Missense_Mutation_p.N644K	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	664	HMG box.				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						GCTTCTCCTGGTTGGACATTG	0.428													C	16007941	G	C	16007941	3	2	7	1	0	0	0	0	1	0	0	0	14955	1252	44	5	502	5	SOX6	11	16007941	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	9191062	16007941	118998575	125	6924											
DEPDC7	91614	broad.mit.edu	37	chr11	33053076	33053076	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cattggcagatattacagtaGtagggaacctctgttaaatc	9	7	1	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr11:33053076G>C	uc001mub.2	+	5	1027	c.935G>C	c.(934-936)AGT>ACT	p.S312T	DEPDC7_uc001muc.2_Missense_Mutation_p.S303T	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	novel 58.3 KDA protein isoform 1	312					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|skin(1)	2						TATTACAGTAGTAGGGAACCT	0.388													C	33053076	G	C	33053076	3	2	7	1	0	0	0	0	1	0	0	0	4444	1029	36	5	1003	5	DEPDC7	11	33053076	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	17045135	33053076	101953440	126	6925											
KCNJ1	3758	broad.mit.edu	37	chr11	128709348	128709348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctggagaagggtctccGctgccatgtggaagaaaggg	16	9	1	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr11:128709348G>A	uc001qeo.1	-	2	899	c.848C>T	c.(847-849)GCG>GTG	p.A283V	KCNJ1_uc001qep.1_Missense_Mutation_p.A264V|KCNJ1_uc001qeq.1_Missense_Mutation_p.A264V|KCNJ1_uc001qer.1_Missense_Mutation_p.A264V|KCNJ1_uc001qes.1_Missense_Mutation_p.A264V	NM_000220	NP_000211	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel J1 isoform	283	Cytoplasmic (By similarity).				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			ovary(3)|breast(1)	4	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	AAGGGTCTCCGCTGCCATGTG	0.463													A	128709348	G	A	128709348	3	1	7	1	0	0	0	0	1	0	0	0	8043	1087	38	1	331	1	KCNJ1	11	128709348	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	95656272	128709348	6297168	127	6926											
WNK1	65125	broad.mit.edu	37	chr12	922912	922912	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agattttatgattcctgggaAtccacagtaaaaggaaagaa	9	5	0	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:922912A>T	uc001qio.3	+	2	1371	c.864A>T	c.(862-864)GAA>GAT	p.E288D	WNK1_uc001qin.2_Missense_Mutation_p.E288D|WNK1_uc001qip.3_Missense_Mutation_p.E288D	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	288	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ATTCCTGGGAATCCACAGTAA	0.353													T	922912	A	T	922912	3	4	7	1	0	0	0	0	1	0	0	0	17374	98	4	5	870	5	WNK1	12	922912	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08		922912	132928983	128	6927											
WNK1	65125	broad.mit.edu	37	chr12	989017	989017	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcatctgctacaacagctgcGatcccgggggtatcaactgt	10	12	3	0	rs142528714		TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:989017G>T	uc001qio.3	+	11	3159	c.2652G>T	c.(2650-2652)GCG>GCT	p.A884A	WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	884					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAACAGCTGCGATCCCGGGGG	0.547													T	989017	G	T	989017	2	4	7	1	0	0	0	0	0	0	0	1	17374	1045	37	5		5	WNK1	12	989017	Silent	SNP	G	TCGA-BR-4191-01A-02D-1126-08	66105	989017	132862878	129	6928											
A2M	2	broad.mit.edu	37	chr12	9227252	9227252	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctccgaggttggggctggCtgggccgtgagataagcgag	18	9	0	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:9227252C>A	uc001qvk.1	-	29	3773	c.3660G>T	c.(3658-3660)CAG>CAT	p.Q1220H	A2M_uc001qvj.1_Missense_Mutation_p.Q262H|A2M_uc009zgk.1_Missense_Mutation_p.Q1070H	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1220					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	TTGGGGCTGGCTGGGCCGTGA	0.582													A	9227252	C	A	9227252	3	1	7	1	0	0	0	0	1	0	0	0	4	796	28	5	796	5	A2M	12	9227252	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	8238235	9227252	124624643	130	6929											
TAS2R7	50837	broad.mit.edu	37	chr12	10954694	10954694	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttcctctttgccttcacaCaaaacctgaaatcagcgttc	4	13	3	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:10954694C>A	uc001qyv.2	-	1	533	c.476G>T	c.(475-477)TGT>TTT	p.C159F		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	159	Extracellular (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			skin(1)	1						TGCCTTCACACAAAACCTGAA	0.428													A	10954694	C	A	10954694	3	1	7	1	0	0	0	0	1	0	0	0	15583	478	17	5	484	5	TAS2R7	12	10954694	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	1727442	10954694	122897201	131	6930											
GUCY2C	2984	broad.mit.edu	37	chr12	14804400	14804400	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatcatggtatcaagtttcaCtgtgccgtagaacttggtca	10	8	4	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:14804400C>A	uc001rcd.2	-	15	1788	c.1651G>T	c.(1651-1653)GTG>TTG	p.V551L		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	551	Cytoplasmic (Potential).|Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6						TCAAGTTTCACTGTGCCGTAG	0.403													A	14804400	C	A	14804400	3	1	7	1	0	0	0	0	1	0	0	0	6896	565	20	5	1622	5	GUCY2C	12	14804400	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	3849706	14804400	119047495	132	6931											
SLCO1B3	28234	broad.mit.edu	37	chr12	21036480	21036485	+	In_Frame_Del	DEL	CATAAA	CATAAA	-													atctatgttgcaattcaagtCataaactctttgttctctgc							TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:21036479_21036484TCATAAA>T	uc010sil.2	+	10	1690_1695	c.1625_1630TCATAAA>T	c.(1624-1632)gtcataaac>gTac	p.IN543del	SLCO1B3_uc001rek.3_In_Frame_Del_p.IN543del|SLCO1B3_uc001rel.3_In_Frame_Del_p.IN543del|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	543					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GCAATTCAAGTCATAAACTCTTTGTT	0.359													-	21036485	CATAAA	-	21036480	7	5	7	1	0	1	0	1	0	0	0	0	14724	813	29	0	1668	0	SLCO1B3	12	21036480	In_Frame_Del	DEL	CATAAA	TCGA-BR-4191-01A-02D-1126-08	6232080	21036480	112815415	133	6932											
ITPR2	3709	broad.mit.edu	37	chr12	26809422	26809428	+	Frame_Shift_Del	DEL	TGGTTTA	TGGTTTA	-													cagacagctgtgtagaaatcTggtttatggccagatactgg							TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:26809421_26809427CTGGTTTA>C	uc001rhg.3	-	18	2664_2670	c.2247_2253TAAACCAG>G	c.(2245-2253)ataaaccagfs	p.I749fs		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	749					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GTGTAGAAATCTGGTTTATGGCCAGAT	0.473													-	26809428	TGGTTTA	-	26809422	7	5	7	1	0	1	0	1	0	0	0	0	7921	1580	55	0	6009	0	ITPR2	12	26809422	Frame_Shift_Del	DEL	TGGTTTA	TCGA-BR-4191-01A-02D-1126-08	5772942	26809422	107042473	134	6933											
PLEKHA9	51054	broad.mit.edu	37	chr12	45567963	45567963	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggtagagcagctcagaGgtgaaggctgcatttgcaat	15	6	1	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:45567963G>A	uc001rom.1	-	3	723	c.186C>T	c.(184-186)ACC>ACT	p.T62T	PLEKHA9_uc009zke.2_Silent_p.T62T	NM_015899	NP_056983			pleckstrin homology domain containing, family A												0	Lung SC(27;0.192)|Renal(347;0.236)			GBM - Glioblastoma multiforme(48;0.173)		GCAGCTCAGAGGTGAAGGCTG	0.448													A	45567963	G	A	45567963	2	1	7	1	0	0	0	0	0	0	0	1	12063	987	35	4		4	PLEKHA9	12	45567963	Silent	SNP	G	TCGA-BR-4191-01A-02D-1126-08	18758541	45567963	88283932	135	6934											
KRT2	3849	broad.mit.edu	37	chr12	53040566	53040566	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtttgcggtaggtggcgatcTccacatctagggccagcttc	13	11	2	0	rs60537449		TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:53040566T>A	uc001sat.2	-	7	1460	c.1427A>T	c.(1426-1428)GAG>GTG	p.E476V		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	476	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		GGTGGCGATCTCCACATCTAG	0.627													A	53040566	T	A	53040566	3	1	7	1	0	0	0	0	1	0	0	0	8457	1551	54	5	504	5	KRT2	12	53040566	Missense_Mutation	SNP	T	TCGA-BR-4191-01A-02D-1126-08	7472603	53040566	80811329	136	6935											
KRT79	338785	broad.mit.edu	37	chr12	53225213	53225213	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgaagtcctccacaagGtcctgcacgttcctgagctc	8	14	1	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:53225213G>T	uc001sbb.2	-	2	708	c.675C>A	c.(673-675)GAC>GAA	p.D225E	KRT79_uc001sba.2_5'Flank	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	225	Rod.|Coil 1B.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4						CCTCCACAAGGTCCTGCACGT	0.627													T	53225213	G	T	53225213	3	4	7	1	0	0	0	0	1	0	0	0	8492	1252	44	5	964	5	KRT79	12	53225213	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	184647	53225213	80626682	137	6936											
CALCOCO1	57658	broad.mit.edu	37	chr12	54108990	54108991	+	Frame_Shift_Del	DEL	AG	AG	-													gctggatgcctcaccaggctAgaatccttctcccgggccag							TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:54108990_54108991delAG	uc001sef.2	-	10	1523_1524	c.1379_1380delCT	c.(1378-1380)TCTfs	p.S460fs	CALCOCO1_uc001see.2_5'Flank|CALCOCO1_uc010som.1_Frame_Shift_Del_p.S375fs|CALCOCO1_uc010son.1_Frame_Shift_Del_p.S337fs|CALCOCO1_uc001seh.2_Frame_Shift_Del_p.S460fs|CALCOCO1_uc009znd.2_Frame_Shift_Del_p.S460fs|CALCOCO1_uc001seg.2_Frame_Shift_Del_p.S285fs|CALCOCO1_uc010soo.1_Frame_Shift_Del_p.S453fs	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	coiled-coil transcriptional coactivator isoform	460	Potential.				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			ovary(1)	1						TCACCAGGCTAGAATCCTTCTC	0.55													-	54108991	AG	-	54108990	7	5	7	1	0	1	0	1	0	0	0	0	2577	407	15	0	719	0	CALCOCO1	12	54108990	Frame_Shift_Del	DEL	AG	TCGA-BR-4191-01A-02D-1126-08	883777	54108990	79742905	138	6937											
LRIG3	121227	broad.mit.edu	37	chr12	59279648	59279648	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaccagtgaaggctttTttagtaatagaacggatccg	9	8	0	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:59279648T>C	uc001sqr.2	-	10	1455	c.1209A>G	c.(1207-1209)AAA>AAG	p.K403K	LRIG3_uc009zqh.2_Silent_p.K343K|LRIG3_uc010ssh.1_RNA	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	403	LRR 14.					integral to membrane				skin(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;1.17e-18)			TGAAGGCTTTTTTAGTAATAG	0.368													C	59279648	T	C	59279648	2	2	7	1	0	0	0	0	0	0	0	1	8946	1838	64	3		3	LRIG3	12	59279648	Silent	SNP	T	TCGA-BR-4191-01A-02D-1126-08	5170658	59279648	74572247	139	6938											
BEST3	144453	broad.mit.edu	37	chr12	70091576	70091576	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttactggagtaagtgacagtCatcttggatagttttttcta	9	5	3	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:70091576C>T	uc001svg.2	-	2	230	c.3G>A	c.(1-3)ATG>ATA	p.M1I	BEST3_uc001svd.1_Missense_Mutation_p.M1I|BEST3_uc001sve.1_Intron|BEST3_uc010stm.1_Intron|BEST3_uc001svh.2_Intron|BEST3_uc001svi.1_Intron	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	1	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AAGTGACAGTCATCTTGGATA	0.358													T	70091576	C	T	70091576	3	4	7	1	0	0	0	0	1	0	0	0	1406	826	29	4	2039	4	BEST3	12	70091576	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	10811928	70091576	63760319	140	6939											
NAV3	89795	broad.mit.edu	37	chr12	78582112	78582112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttagatggtgtaataagaCgtctctttaaggtatgttgt	10	4	2	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:78582112C>T	uc001syp.2	+	32	6048	c.5875C>T	c.(5875-5877)CGT>TGT	p.R1959C	NAV3_uc001syo.2_Missense_Mutation_p.R1937C|NAV3_uc010sub.1_Missense_Mutation_p.R1416C|NAV3_uc009zsf.2_Missense_Mutation_p.R768C	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1959						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.R1937C(1)		large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TGTAATAAGACGTCTCTTTAA	0.343										HNSCC(70;0.22)			T	78582112	C	T	78582112	3	4	7	1	0	0	0	0	1	0	0	0	10185	536	19	1	5931	1	NAV3	12	78582112	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	8490536	78582112	55269783	141	6940											
BTBD11	121551	broad.mit.edu	37	chr12	108004005	108004005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatctcgaaagctggatgCggtggccatcgaagccaagt	13	10	1	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:108004005C>T	uc001tmk.1	+	5	2203	c.1682C>T	c.(1681-1683)GCG>GTG	p.A561V	BTBD11_uc009zut.1_Missense_Mutation_p.A561V|BTBD11_uc001tmj.2_Missense_Mutation_p.A561V|BTBD11_uc001tml.1_Missense_Mutation_p.A98V	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	561						integral to membrane	DNA binding			skin(2)|ovary(1)	3						AAGCTGGATGCGGTGGCCATC	0.582											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	108004005	C	T	108004005	3	4	7	1	0	0	0	0	1	0	0	0	1539	768	27	1	1805	1	BTBD11	12	108004005	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	29421893	108004005	25847890	142	6941											
KNTC1	9735	broad.mit.edu	37	chr12	123060182	123060182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaacagcacctggaaatGgaccatcccaagtaagatga	10	9	0	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:123060182G>T	uc001ucv.2	+	28	2638	c.2475G>T	c.(2473-2475)ATG>ATT	p.M825I	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	825					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ACCTGGAAATGGACCATCCCA	0.418													T	123060182	G	T	123060182	3	4	7	1	0	0	0	0	1	0	0	0	8428	1348	47	5	2581	5	KNTC1	12	123060182	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	15056177	123060182	10791713	143	6942											
NCOR2	9612	broad.mit.edu	37	chr12	124862804	124862804	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttcagcctcctccaccatctCctcctcatttccgctcacgc	3	21	4	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:124862804C>G	uc010tba.1	-	18	2263	c.2146G>C	c.(2146-2148)GAG>CAG	p.E716Q	NCOR2_uc010tay.1_Missense_Mutation_p.E716Q|NCOR2_uc010taz.1_Missense_Mutation_p.E716Q|NCOR2_uc010tbb.1_Missense_Mutation_p.E716Q|NCOR2_uc010tbc.1_Missense_Mutation_p.E715Q|NCOR2_uc001ugj.1_Missense_Mutation_p.E716Q	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	716					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCACCATCTCCTCCTCATTT	0.667													G	124862804	C	G	124862804	3	3	7	1	0	0	0	0	1	0	0	0	10236	864	30	5	5542	5	NCOR2	12	124862804	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	1802622	124862804	8989091	144	6943											
RASL11A	387496	broad.mit.edu	37	chr13	27847365	27847365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggggaccttttgcatgccCggcaggtgcagacacaggac	15	11	0	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr13:27847365C>T	uc001urd.1	+	4	1081	c.463C>T	c.(463-465)CGG>TGG	p.R155W		NM_206827	NP_996563	Q6T310	RSLBA_HUMAN	RAS-like, family 11, member A	155	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(1)	1		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		TTTGCATGCCCGGCAGGTGCA	0.532													T	27847365	C	T	27847365	3	4	7	1	0	0	0	0	1	0	0	0	13081	643	23	1	477	1	RASL11A	13	27847365	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08		27847365	87322513	145	6944											
B3GALTL	145173	broad.mit.edu	37	chr13	31898019	31898019	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatccctgtgacacacagccCtctcttccatcaggtgagga	8	14	2	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr13:31898019C>G	uc010aaz.2	+	14	1426	c.1316C>G	c.(1315-1317)CCT>CGT	p.P439R	B3GALTL_uc001utn.3_RNA|B3GALTL_uc001uto.3_Missense_Mutation_p.P44R	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	439	Lumenal (Potential).				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		ACACACAGCCCTCTCTTCCAT	0.463													G	31898019	C	G	31898019	3	3	7	1	0	0	0	0	1	0	0	0	1252	681	24	5	1370	5	B3GALTL	13	31898019	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	4050654	31898019	83271859	146	6945											
ENOX1	55068	broad.mit.edu	37	chr13	43986166	43986166	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagctgggtcgtgtctatcgCtatactccccaaaccatcgg	10	13	1	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr13:43986166C>G	uc001uza.3	-	5	394	c.94G>C	c.(94-96)GCG>CCG	p.A32P	ENOX1_uc001uzb.3_Missense_Mutation_p.A32P|ENOX1_uc001uzc.3_Missense_Mutation_p.A32P	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	32					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GTGTCTATCGCTATACTCCCC	0.483													G	43986166	C	G	43986166	3	3	7	1	0	0	0	0	1	0	0	0	5126	797	28	5	1889	5	ENOX1	13	43986166	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	12088147	43986166	71183712	147	6946											
CCDC122	160857	broad.mit.edu	37	chr13	44443470	44443470	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taagactgtttcattaccttCtttaggaaatccttgactct	5	9	3	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr13:44443470C>T	uc010acf.2	-	3	302	c.43G>A	c.(43-45)GAA>AAA	p.E15K	CCDC122_uc010tfn.1_Missense_Mutation_p.E15K	NM_144974	NP_659411	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	15											0		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		TCATTACCTTCTTTAGGAAAT	0.313													T	44443470	C	T	44443470	3	4	7	1	0	0	0	0	1	0	0	0	2758	922	32	4	798	4	CCDC122	13	44443470	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	457304	44443470	70726408	148	6947											
PIBF1	10464	broad.mit.edu	37	chr13	73547774	73547774	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttactacagacgaagaatcaAatggcattagatttagaaca	7	6	1	4			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr13:73547774A>C	uc001vjc.2	+	16	2315	c.2010A>C	c.(2008-2010)CAA>CAC	p.Q670H	PIBF1_uc001vjb.2_Missense_Mutation_p.Q670H|PIBF1_uc010aep.2_Missense_Mutation_p.Q129H	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	progesterone-induced blocking factor 1	670						centrosome				ovary(1)|breast(1)	2		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CGAAGAATCAAATGGCATTAG	0.269													C	73547774	A	C	73547774	3	2	7	1	0	0	0	0	1	0	0	0	11879	11	1	5	2068	5	PIBF1	13	73547774	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08	29104304	73547774	41622104	149	6948											
EDNRB	1910	broad.mit.edu	37	chr13	78492668	78492668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgcaggcaagaaccagcGcaaccagggcgcgtccgcac	14	16	0	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr13:78492668G>A	uc001vko.2	-	1	299	c.41C>T	c.(40-42)GCG>GTG	p.A14V	uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.A14V|EDNRB_uc010aez.1_Missense_Mutation_p.A14V|EDNRB_uc001vkp.1_Missense_Mutation_p.A97V|EDNRB_uc010afa.1_Missense_Mutation_p.A14V	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	14					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	AAGAACCAGCGCAACCAGGGC	0.637											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	78492668	G	A	78492668	3	1	7	1	0	0	0	0	1	0	0	0	4920	1087	38	1	1436	1	EDNRB	13	78492668	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	4944894	78492668	36677210	150	6949											
EFNB2	1948	broad.mit.edu	37	chr13	107147295	107147295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtaccagcttctagttctgGacgtcttgttggatctttat	9	8	4	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr13:107147295G>A	uc001vqi.2	-	4	572	c.547C>T	c.(547-549)CCA>TCA	p.P183S		NM_004093	NP_004084	P52799	EFNB2_HUMAN	ephrin B2 precursor	183	Extracellular (Potential).				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			ovary(1)	1	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TCTAGTTCTGGACGTCTTGTT	0.398													A	107147295	G	A	107147295	3	1	7	1	0	0	0	0	1	0	0	0	4956	1174	41	4	462	4	EFNB2	13	107147295	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	28654627	107147295	8022583	151	6950											
ADPRHL1	113622	broad.mit.edu	37	chr13	114077206	114077206	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttctccttgtcctccagGtcctggtacaagcctttggg	10	13	1	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr13:114077206G>A	uc001vtq.1	-	7	1083	c.996C>T	c.(994-996)GAC>GAT	p.D332D	ADPRHL1_uc001vtp.1_Silent_p.D250D	NM_138430	NP_612439	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1 isoform 1	332					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			TGTCCTCCAGGTCCTGGTACA	0.607													A	114077206	G	A	114077206	2	1	7	1	0	0	0	0	0	0	0	1	332	1252	44	4		4	ADPRHL1	13	114077206	Silent	SNP	G	TCGA-BR-4191-01A-02D-1126-08	6929911	114077206	1092672	152	6951											
OR4N2	390429	broad.mit.edu	37	chr14	20295867	20295867	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatgttggtggacttcctctCtgcgaagaagataatctcct	10	9	2	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr14:20295867C>A	uc010tkv.1	+	1	260	c.260C>A	c.(259-261)TCT>TAT	p.S87Y		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	87	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GACTTCCTCTCTGCGAAGAAG	0.522													A	20295867	C	A	20295867	3	1	7	1	0	0	0	0	1	0	0	0	11077	913	32	5	262	5	OR4N2	14	20295867	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08		20295867	87053673	153	6952											
CDH24	64403	broad.mit.edu	37	chr14	23523498	23523498	+	Frame_Shift_Del	DEL	C	C	-													ggagccggcccaccagtgtgCcaggtccagctgtctccacc							TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr14:23523497_23523497GC>G	uc001wil.3	-	5	1085	c.825_825GC>C	c.(823-825)ggcfs	p.G275fs	CDH24_uc010akf.3_Frame_Shift_Del_p.G275fs|CDH24_uc001win.3_Frame_Shift_Del_p.G275fs	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	275	Cadherin 3.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCACCAGTGTGCCAGGTCCAG	0.647													-	23523498	C	-	23523498	7	5	7	1	0	1	0	1	0	0	0	0	3109	739	26	0	1667	0	CDH24	14	23523498	Frame_Shift_Del	DEL	C	TCGA-BR-4191-01A-02D-1126-08	3227631	23523498	83826042	154	6953											
SDR39U1	56948	broad.mit.edu	37	chr14	24911974	24911974	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctcacccacaagcacacgcAtagcgactaggacctaacgc	7	17	1	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr14:24911974A>T	uc001wpm.2	-	1	34	c.2T>A	c.(1-3)ATG>AAG	p.M1K	SDR39U1_uc001wpi.2_5'Flank|SDR39U1_uc001wpj.2_5'Flank|SDR39U1_uc001wpk.2_5'Flank|SDR39U1_uc001wpl.2_5'Flank|SDR39U1_uc001wpn.2_Intron|uc001wpo.1_5'Flank	NM_020195	NP_064580	Q9NRG7	D39U1_HUMAN	short chain dehydrogenase/reductase family 39U,	Error:Variant_position_missing_in_Q9NRG7_after_alignment							binding			pancreas(1)	1						AAGCACACGCATAGCGACTAG	0.587													T	24911974	A	T	24911974	3	4	7	1	0	0	0	0	1	0	0	0	13972	217	8	5	903	5	SDR39U1	14	24911974	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08	1388476	24911974	82437566	155	6954											
GZMH	2999	broad.mit.edu	37	chr14	25078787	25078787	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcccagccccaggggtcagAagaaaggccaacaggaggag	15	11	1	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr14:25078787A>C	uc001wpr.1	-	1	78	c.33T>G	c.(31-33)CTT>CTG	p.L11L	GZMH_uc010aly.1_Silent_p.L11L|GZMH_uc010alz.1_Silent_p.L11L	NM_033423	NP_219491	P20718	GRAH_HUMAN	granzyme H precursor	11					apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(265;0.0267)		CAGGGGTCAGAAGAAAGGCCA	0.522													C	25078787	A	C	25078787	2	2	7	1	0	0	0	0	0	0	0	1	6917	233	9	5		5	GZMH	14	25078787	Silent	SNP	A	TCGA-BR-4191-01A-02D-1126-08	166813	25078787	82270753	156	6955											
NOVA1	4857	broad.mit.edu	37	chr14	26917367	26917367	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtattccactaatgttttcCctcctttgccaagtattgca	6	11	0	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr14:26917367C>A	uc001wpy.2	-	5	1640	c.1322G>T	c.(1321-1323)GGG>GTG	p.G441V	NOVA1_uc001wpz.2_Missense_Mutation_p.G417V|NOVA1_uc001wqa.2_Missense_Mutation_p.G319V	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	444	KH 3.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5				GBM - Glioblastoma multiforme(265;0.0135)		TAATGTTTTCCCTCCTTTGCC	0.433													A	26917367	C	A	26917367	3	1	7	1	0	0	0	0	1	0	0	0	10554	623	22	5	205	5	NOVA1	14	26917367	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	1838580	26917367	80432173	157	6956											
RTN1	6252	broad.mit.edu	37	chr14	60069806	60069806	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccacaacagcatttatgtgAgtcctcacaagtcccagata	7	12	1	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr14:60069806A>C	uc001xen.1	-	8	2474	c.2265T>G	c.(2263-2265)ACT>ACG	p.T755T	RTN1_uc001xem.1_Silent_p.T335T|RTN1_uc001xek.1_Silent_p.T187T|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Silent_p.T172T	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	755	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CATTTATGTGAGTCCTCACAA	0.373													C	60069806	A	C	60069806	2	2	7	1	0	0	0	0	0	0	0	1	13725	291	11	5		5	RTN1	14	60069806	Silent	SNP	A	TCGA-BR-4191-01A-02D-1126-08	33152439	60069806	47279734	158	6957											
ALDH6A1	4329	broad.mit.edu	37	chr14	74537897	74537908	+	Splice_Site	DEL	CCTTCATGCTGT	CCTTCATGCTGT	-													catatgcataagggcagttaCcttcatgctgtccatggatg							TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr14:74537896_74537907ACCTTCATGCTGT>A	uc001xpo.3	-	6	829	c.730_splice	c.e6+1	p.A244_splice	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010tuq.2_Splice_Site_p.A231_splice|ALDH6A1_uc010asa.3_Splice_Site_p.A89_splice	NM_005589	NP_005580	Q02252	MMSA_HUMAN	Homo sapiens aldehyde dehydrogenase 6 family, member A1 (ALDH6A1), nuclear gene encoding mitochondrial protein, mRNA.	244						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	AAGGGCAGTTACCTTCATGCTGTCCATGGATG	0.439													-	74537908	CCTTCATGCTGT	-	74537897	8	5	7	1	0	1	0	1	0	0	1	0	503	521	18	0	904	0	ALDH6A1	14	74537897	Splice_Site	DEL	CCTTCATGCTGT	TCGA-BR-4191-01A-02D-1126-08	14468091	74537897	32811643	159	6958											
SMEK1	55671	broad.mit.edu	37	chr14	91927850	91927850	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtagatgactggctggtgaGgttagtcttcgttccactgg	14	7	1	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr14:91927850G>C	uc001xzn.2	-	14	3088	c.2266C>G	c.(2266-2268)CTC>GTC	p.L756V	SMEK1_uc001xzm.2_Missense_Mutation_p.L743V|SMEK1_uc001xzo.2_Missense_Mutation_p.L743V|SMEK1_uc010atz.2_Missense_Mutation_p.L517V	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1	756						microtubule organizing center|nucleus	protein binding				0		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TGGCTGGTGAGGTTAGTCTTC	0.488													C	91927850	G	C	91927850	3	2	7	1	0	0	0	0	1	0	0	0	14793	1000	35	5	243	5	SMEK1	14	91927850	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	17389953	91927850	15421690	160	6959											
SERPINA10	51156	broad.mit.edu	37	chr14	94756557	94756557	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaagtggagccctctcTtgatctgggtttcagtcggc	12	12	3	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr14:94756557T>A	uc001yct.2	-	2	840	c.374A>T	c.(373-375)AAG>ATG	p.K125M	SERPINA10_uc001ycu.3_Missense_Mutation_p.K125M	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	serine (or cysteine) proteinase inhibitor, clade	125					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GAGCCCTCTCTTGATCTGGGT	0.592													A	94756557	T	A	94756557	3	1	7	1	0	0	0	0	1	0	0	0	14087	1609	56	5	976	5	SERPINA10	14	94756557	Missense_Mutation	SNP	T	TCGA-BR-4191-01A-02D-1126-08	2828707	94756557	12592983	161	6960											
PACS2	23241	broad.mit.edu	37	chr14	105859631	105859631	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgcattgagggcatcagccGgctcatctgcactgccaggc	13	13	3	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr14:105859631G>C	uc001yqt.2	+	23	2685	c.2510G>C	c.(2509-2511)CGG>CCG	p.R837P	PACS2_uc001yqs.2_Missense_Mutation_p.R762P|PACS2_uc001yqv.2_Missense_Mutation_p.R841P|PACS2_uc001yqu.2_Missense_Mutation_p.R852P	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	837					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GGCATCAGCCGGCTCATCTGC	0.602													C	105859631	G	C	105859631	3	2	7	1	0	0	0	0	1	0	0	0	11373	1116	39	5	2612	5	PACS2	14	105859631	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	11103074	105859631	1489909	162	6961											
ATP10A	57194	broad.mit.edu	37	chr15	25924998	25924998	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcggttcccgagtccttcggGaggcgtccctgagcaaaggt	14	12	0	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr15:25924998G>A	uc010ayu.2	-	21	4096	c.3990C>T	c.(3988-3990)CTC>CTT	p.L1330L		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1330	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGTCCTTCGGGAGGCGTCCCT	0.607													A	25924998	G	A	25924998	2	1	7	1	0	0	0	0	0	0	0	1	1116	1161	41	4		4	ATP10A	15	25924998	Silent	SNP	G	TCGA-BR-4191-01A-02D-1126-08		25924998	76606394	163	6962											
RASGRP1	10125	broad.mit.edu	37	chr15	38808415	38808415	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taccgatatcctccggaaagActtgaactcaaggtaggtga	10	9	1	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr15:38808415A>T	uc001zke.3	-	6	836	c.658T>A	c.(658-660)TCT>ACT	p.S220T	RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Missense_Mutation_p.S82T|RASGRP1_uc010bbg.2_Missense_Mutation_p.S82T|RASGRP1_uc001zkd.3_Missense_Mutation_p.S220T	NM_005739	NP_005730	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 isoform a	220	Ras-GEF.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			large_intestine(1)|ovary(1)	2		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CTCCGGAAAGACTTGAACTCA	0.443													T	38808415	A	T	38808415	3	4	7	1	0	0	0	0	1	0	0	0	13074	275	10	5	1783	5	RASGRP1	15	38808415	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08	12883417	38808415	63722977	164	6963											
FBN1	2200	broad.mit.edu	37	chr15	48808532	48808532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcccaggaattaccataGgaacagagcacagcttgttg	10	10	1	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr15:48808532G>A	uc001zwx.1	-	11	1503	c.1175C>T	c.(1174-1176)CCT>CTT	p.P392L		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	392					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AATTACCATAGGAACAGAGCA	0.483													A	48808532	G	A	48808532	3	1	7	1	0	0	0	0	1	0	0	0	5702	1000	35	4	7664	4	FBN1	15	48808532	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	10000117	48808532	53722860	165	6964											
DMXL2	23312	broad.mit.edu	37	chr15	51772201	51772201	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catctgaacaatagtataaaGtatatcatggatgtgattat	7	4	2	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr15:51772201G>C	uc002abf.2	-	25	6925	c.6700C>G	c.(6700-6702)CTT>GTT	p.L2234V	DMXL2_uc002abd.2_Missense_Mutation_p.L304V|DMXL2_uc010ufy.1_Missense_Mutation_p.L2234V|DMXL2_uc010bfa.2_Missense_Mutation_p.L1598V	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2234						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		ATAGTATAAAGTATATCATGG	0.353													C	51772201	G	C	51772201	3	2	7	1	0	0	0	0	1	0	0	0	4595	1029	36	5	2489	5	DMXL2	15	51772201	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	2963669	51772201	50759191	166	6965											
DMXL2	23312	broad.mit.edu	37	chr15	51790812	51790812	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtagccactgtatcagccaAagctacaaggaacatctgct	8	11	2	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr15:51790812A>T	uc002abf.2	-	18	4834	c.4609T>A	c.(4609-4611)TTG>ATG	p.L1537M	DMXL2_uc010ufy.1_Missense_Mutation_p.L1537M|DMXL2_uc010bfa.2_Intron	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1537						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		GTATCAGCCAAAGCTACAAGG	0.413													T	51790812	A	T	51790812	3	4	7	1	0	0	0	0	1	0	0	0	4595	11	1	5	4608	5	DMXL2	15	51790812	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08	18611	51790812	50740580	167	6966											
RFX7	64864	broad.mit.edu	37	chr15	56388648	56388648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatctgagggtaacggtgCcgggcagaacgatccccacc	13	12	1	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr15:56388648C>T	uc010bfn.2	-	9	1278	c.1278G>A	c.(1276-1278)CGG>CGA	p.R426R	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Silent_p.R240R	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	329					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						GGTAACGGTGCCGGGCAGAAC	0.527													T	56388648	C	T	56388648	2	4	7	1	0	0	0	0	0	0	0	1	13268	726	26	2		2	RFX7	15	56388648	Silent	SNP	C	TCGA-BR-4191-01A-02D-1126-08	4597836	56388648	46142744	168	6967											
ANP32A	8125	broad.mit.edu	37	chr15	69080154	69080154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtttgcgattgaggtgagGcctacgttgattgtacttaa	12	5	0	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr15:69080154G>A	uc002arl.2	-	2	330	c.159C>T	c.(157-159)GGC>GGT	p.G53G		NM_006305	NP_006296	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32	53	LRR 2.				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding				0						TTGAGGTGAGGCCTACGTTGA	0.468													A	69080154	G	A	69080154	2	1	7	1	0	0	0	0	0	0	0	1	705	1190	42	2		2	ANP32A	15	69080154	Silent	SNP	G	TCGA-BR-4191-01A-02D-1126-08	12691506	69080154	33451238	169	6968											
CSK	1445	broad.mit.edu	37	chr15	75091016	75091016	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttccacggcactgccgagCaggacctgcccttctgcaaa	9	16	1	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr15:75091016C>T	uc010bkb.1	+	4	259	c.76C>T	c.(76-78)CAG>TAG	p.Q26*	CSK_uc010bka.2_Missense_Mutation_p.A96V|CSK_uc002ays.2_Nonsense_Mutation_p.Q26*|CSK_uc010bkc.1_5'Flank	NM_001127190	NP_001120662	P41240	CSK_HUMAN	c-src tyrosine kinase	26	Interaction with PTPN8 (By similarity).|SH3.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			lung(2)|central_nervous_system(1)	3						CACTGCCGAGCAGGACCTGCC	0.627													T	75091016	C	T	75091016	4	4	7	1	0	0	0	0	0	1	0	0	3943	711	25	2	82	2	CSK	15	75091016	Nonsense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	6010862	75091016	27440376	170	6969											
SYNM	23336	broad.mit.edu	37	chr15	99670184	99670184	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagagaaacctaagatgggAagaattgacaaagttagata	12	3	0	5			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr15:99670184A>G	uc002bup.2	+	6	1739	c.1619A>G	c.(1618-1620)GAA>GGA	p.E540G	SYNM_uc002buo.2_Missense_Mutation_p.E540G|SYNM_uc002buq.2_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	540	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			ovary(3)|central_nervous_system(1)	4						CTAAGATGGGAAGAATTGACA	0.458													G	99670184	A	G	99670184	3	3	7	1	0	0	0	0	1	0	0	0	15452	246	9	3	1632	3	SYNM	15	99670184	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08	24579168	99670184	2861208	171	6970											
OR4F15	390649	broad.mit.edu	37	chr15	102359303	102359303	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggagactgtgcagtcgtcTtgcgcattttacaaagattt	11	7	1	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr15:102359303T>C	uc010uts.1	+	1	914	c.914T>C	c.(913-915)CTT>CCT	p.L305P		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F,	305	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGCAGTCGTCTTGCGCATTTT	0.373													C	102359303	T	C	102359303	3	2	7	1	0	0	0	0	1	0	0	0	11061	1609	56	3	916	3	OR4F15	15	102359303	Missense_Mutation	SNP	T	TCGA-BR-4191-01A-02D-1126-08	2689119	102359303	172089	172	6971											
SRCAP	10847	broad.mit.edu	37	chr16	30747914	30747914	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggaggcctcactggaggAggtgagccgagaggagctca	17	10	2	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr16:30747914A>G	uc002dze.1	+	33	7362	c.6977A>G	c.(6976-6978)GAG>GGG	p.E2326G	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.E2121G	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2326	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			TCACTGGAGGAGGTGAGCCGA	0.493													G	30747914	A	G	30747914	3	3	7	1	0	0	0	0	1	0	0	0	15134	304	11	3	7099	3	SRCAP	16	30747914	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08		30747914	59606839	173	6972											
CHD9	80205	broad.mit.edu	37	chr16	53272298	53272298	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgggtcttggcaaaactAttcaatcaattacattcctc	5	9	3	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr16:53272298A>G	uc002ehb.2	+	11	2841	c.2677A>G	c.(2677-2679)ATT>GTT	p.I893V	CHD9_uc002egy.2_Missense_Mutation_p.I893V|CHD9_uc002eha.1_Missense_Mutation_p.I893V|CHD9_uc002ehc.2_Missense_Mutation_p.I893V|CHD9_uc002ehf.2_Missense_Mutation_p.I7V|CHD9_uc002ehd.2_Missense_Mutation_p.I419V|CHD9_uc002ehe.1_Missense_Mutation_p.I7V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	893	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				TGGCAAAACTATTCAATCAAT	0.348													G	53272298	A	G	53272298	3	3	7	1	0	0	0	0	1	0	0	0	3332	449	16	3	2719	3	CHD9	16	53272298	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08	22524384	53272298	37082455	174	6973											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67477017	67477017	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attaccttgtagagggtgttGcggatgatctcgatgttcat	12	6	2	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr16:67477017G>C	uc002ete.1	-	4	646	c.546C>G	c.(544-546)CGC>CGG	p.R182R	ATP6V0D1_uc010vjo.1_Silent_p.R223R|ATP6V0D1_uc010vjn.1_Silent_p.R105R	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	182					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		AGAGGGTGTTGCGGATGATCT	0.557													C	67477017	G	C	67477017	2	2	7	1	0	0	0	0	0	0	0	1	1173	1306	46	5		5	ATP6V0D1	16	67477017	Silent	SNP	G	TCGA-BR-4191-01A-02D-1126-08	14204719	67477017	22877736	175	6974											
ACSF3	197322	broad.mit.edu	37	chr16	89187233	89187233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtggggaccccactgcctgGagtacaggtgcgcattgtct	14	12	1	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr16:89187233G>A	uc002fmp.2	+	7	1491	c.1151G>A	c.(1150-1152)GGA>GAA	p.G384E	ACSF3_uc010cig.1_Missense_Mutation_p.G384E|ACSF3_uc010cih.1_Missense_Mutation_p.G119E|ACSF3_uc002fmq.1_RNA|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_Missense_Mutation_p.G119E	NM_174917	NP_777577	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3 precursor	384					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CCACTGCCTGGAGTACAGGTG	0.587													A	89187233	G	A	89187233	3	1	7	1	0	0	0	0	1	0	0	0	176	1174	41	4	1169	4	ACSF3	16	89187233	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	21710216	89187233	1167520	176	6975											
GAS8	2622	broad.mit.edu	37	chr16	90103775	90103775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagatgcagaaacagctcGcaaactacgagagggacaag	13	9	0	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr16:90103775G>A	uc002fqi.1	+	7	1014	c.892G>A	c.(892-894)GCA>ACA	p.A298T	GAS8_uc010vps.1_Missense_Mutation_p.A273T|GAS8_uc002fqh.2_Missense_Mutation_p.A215T|GAS8_uc010vpt.1_3'UTR|GAS8_uc010vpu.1_3'UTR|GAS8_uc010vpv.1_Missense_Mutation_p.A269T|GAS8_uc010cjc.1_Missense_Mutation_p.A215T|GAS8_uc010vpw.1_Missense_Mutation_p.A215T|GAS8_uc002fqj.1_Missense_Mutation_p.A106T	NM_001481	NP_001472	O95995	GAS8_HUMAN	growth arrest-specific 8	298	Potential.				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		GAAACAGCTCGCAAACTACGA	0.587													A	90103775	G	A	90103775	3	1	7	1	0	0	0	0	1	0	0	0	6251	1087	38	1	918	1	GAS8	16	90103775	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	916542	90103775	250978	177	6976											
DNAH2	146754	broad.mit.edu	37	chr17	7674725	7674725	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaccaggtcaacagcaactgGaaagccatcatggacaggat	11	10	2	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr17:7674725G>A	uc002giu.1	+	27	4454	c.4440G>A	c.(4438-4440)TGG>TGA	p.W1480*		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1480	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACAGCAACTGGAAAGCCATCA	0.547													A	7674725	G	A	7674725	4	1	7	1	0	0	0	0	0	1	0	0	4602	1183	41	4	4546	4	DNAH2	17	7674725	Nonsense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08		7674725	73520485	178	6977											
ZNF287	57336	broad.mit.edu	37	chr17	16466545	16466545	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttggtctgtacactgtaagTcctgttcaggaggaatataa	11	6	2	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr17:16466545T>C	uc002gqi.2	-	5	1083	c.630A>G	c.(628-630)GGA>GGG	p.G210G		NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	zinc finger protein 287	203	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		ACACTGTAAGTCCTGTTCAGG	0.388													C	16466545	T	C	16466545	2	2	7	1	0	0	0	0	0	0	0	1	17822	1681	58	3		3	ZNF287	17	16466545	Silent	SNP	T	TCGA-BR-4191-01A-02D-1126-08	8791820	16466545	64728665	179	6978											
TADA2A	6871	broad.mit.edu	37	chr17	35830563	35830563	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagcgccttaaacgcactAtgctctcagaagttctccag	8	12	2	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr17:35830563A>G	uc002hnt.2	+	13	1112	c.955A>G	c.(955-957)ATG>GTG	p.M319V	TADA2A_uc002hnv.2_Missense_Mutation_p.M319V|TADA2A_uc002hnw.2_Missense_Mutation_p.M218V|TADA2A_uc010cvb.2_Missense_Mutation_p.M115V	NM_001488	NP_001479	O75478	TAD2A_HUMAN	transcriptional adaptor 2A isoform a	319					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(3)|skin(1)	4						TAAACGCACTATGCTCTCAGA	0.512													G	35830563	A	G	35830563	3	3	7	1	0	0	0	0	1	0	0	0	15507	449	16	3	1096	3	TADA2A	17	35830563	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08	19364018	35830563	45364647	180	6979											
KRT33A	3883	broad.mit.edu	37	chr17	39505636	39505636	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggccagcttggcattgtcGatctgcaccacaagcctggc	12	13	1	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr17:39505636G>A	uc002hwk.1	-	2	430	c.393C>T	c.(391-393)ATC>ATT	p.I131I		NM_004138	NP_004129	O76009	KT33A_HUMAN	keratin 33A	131	Rod.|Coil 1B.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)				TGGCATTGTCGATCTGCACCA	0.488													A	39505636	G	A	39505636	2	1	7	1	0	0	0	0	0	0	0	1	8469	1048	37	1		1	KRT33A	17	39505636	Silent	SNP	G	TCGA-BR-4191-01A-02D-1126-08	3675073	39505636	41689574	181	6980											
KRT37	8688	broad.mit.edu	37	chr17	39579089	39579089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagggactcctgctgggcctCcaggtcggccttggccaggg	16	14	0	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr17:39579089C>T	uc002hwp.1	-	3	720	c.673G>A	c.(673-675)GAG>AAG	p.E225K	uc002hwo.1_Intron	NM_003770	NP_003761	O76014	KRT37_HUMAN	keratin 37	225	Rod.|Coil 1B.					intermediate filament	structural molecule activity			skin(1)	1		Breast(137;0.000496)				TGCTGGGCCTCCAGGTCGGCC	0.667													T	39579089	C	T	39579089	3	4	7	1	0	0	0	0	1	0	0	0	8474	864	30	4	696	4	KRT37	17	39579089	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	73453	39579089	41616121	182	6981											
NFE2L1	4779	broad.mit.edu	37	chr17	46128617	46128617	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgggagatcatcctggggcCcagttctgcctatactcaga	11	13	3	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr17:46128617C>G	uc002imz.3	+	2	788	c.137C>G	c.(136-138)CCC>CGC	p.P46R	NFE2L1_uc002ina.3_Missense_Mutation_p.P46R|NFE2L1_uc002inb.3_Missense_Mutation_p.P46R|NFE2L1_uc002inc.1_Missense_Mutation_p.P46R	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	46					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			skin(1)	1						ATCCTGGGGCCCAGTTCTGCC	0.527													G	46128617	C	G	46128617	3	3	7	1	0	0	0	0	1	0	0	0	10367	623	22	5	139	5	NFE2L1	17	46128617	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	6549528	46128617	35066593	183	6982											
HOXB3	3213	broad.mit.edu	37	chr17	46629484	46629484	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtggagttggtgccgggaCcgcactttgggggaccactt	18	9	0	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr17:46629484C>A	uc002inn.2	-	1	753	c.353G>T	c.(352-354)GGT>GTT	p.G118V	HOXB3_uc010wlm.1_Missense_Mutation_p.G45V|HOXB3_uc010dbf.2_Missense_Mutation_p.G118V|HOXB3_uc010dbg.2_Missense_Mutation_p.G118V|HOXB3_uc002ino.2_Missense_Mutation_p.G118V|HOXB3_uc010wlk.1_Intron|HOXB3_uc010wll.1_Missense_Mutation_p.G45V	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	118					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGTGCCGGGACCGCACTTTGG	0.617													A	46629484	C	A	46629484	3	1	7	1	0	0	0	0	1	0	0	0	7302	507	18	5	950	5	HOXB3	17	46629484	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	500867	46629484	34565726	184	6983											
B4GALNT2	124872	broad.mit.edu	37	chr17	47219490	47219490	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccagagcgacctcccagcGgtgaaagcgaggagacaggc	16	12	0	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr17:47219490G>C	uc002ion.2	+	3	548	c.489G>C	c.(487-489)GCG>GCC	p.A163A	B4GALNT2_uc010wlt.1_Silent_p.A77A|B4GALNT2_uc010wlu.1_Silent_p.A103A	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	163	Lumenal (Potential).				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2			all cancers(6;0.000316)			ACCTCCCAGCGGTGAAAGCGA	0.507													C	47219490	G	C	47219490	2	2	7	1	0	0	0	0	0	0	0	1	1267	1103	39	5		5	B4GALNT2	17	47219490	Silent	SNP	G	TCGA-BR-4191-01A-02D-1126-08	590006	47219490	33975720	185	6984											
ABI3	51225	broad.mit.edu	37	chr17	47295217	47295217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaacctaccccctctcacGccctactgcaggagacccct	7	19	1	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr17:47295217G>A	uc002iop.1	+	3	900	c.402G>A	c.(400-402)ACG>ACA	p.T134T	ABI3_uc002ioq.1_Silent_p.T128T	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	NESH protein isoform 1	134					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding				0			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CCCCTCTCACGCCCTACTGCA	0.632										HNSCC(55;0.14)			A	47295217	G	A	47295217	2	1	7	1	0	0	0	0	0	0	0	1	90	1074	38	1		1	ABI3	17	47295217	Silent	SNP	G	TCGA-BR-4191-01A-02D-1126-08	75727	47295217	33899993	186	6985											
DNAH17	8632	broad.mit.edu	37	chr17	76501424	76501424	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaccatgtactcgtcctccTtgctgtacattcccaggccc	6	16	0	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr17:76501424T>C	uc010wtu.1	-	5	959	c.782A>G	c.(781-783)AAG>AGG	p.K261R						full-length cDNA clone CS0DJ002YI14 of T cells (Jurkat cell line) Cot 10-normalized of Homo sapiens (human).											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTCGTCCTCCTTGCTGTACAT	0.562													C	76501424	T	C	76501424	3	2	7	1	0	0	0	0	1	0	0	0	4601	1609	56	3	8685	3	DNAH17	17	76501424	Missense_Mutation	SNP	T	TCGA-BR-4191-01A-02D-1126-08	29206207	76501424	4693786	187	6986											
TBC1D16	125058	broad.mit.edu	37	chr17	77921612	77921612	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggcagggttgtacacggcGtagttcagcaggatcctcct	13	11	1	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr17:77921612G>A	uc002jxj.2	-	9	1676	c.1560C>T	c.(1558-1560)TAC>TAT	p.Y520Y	TBC1D16_uc002jxh.2_Silent_p.Y158Y|TBC1D16_uc002jxi.2_Silent_p.Y145Y|TBC1D16_uc002jxk.1_Silent_p.Y158Y	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	520	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			TGTACACGGCGTAGTTCAGCA	0.647													A	77921612	G	A	77921612	2	1	7	1	0	0	0	0	0	0	0	1	15602	1140	40	1		1	TBC1D16	17	77921612	Silent	SNP	G	TCGA-BR-4191-01A-02D-1126-08	1420188	77921612	3273598	188	6987											
MYOM1	8736	broad.mit.edu	37	chr18	3134758	3134758	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatctttggactcctcccaCgaaactaccactgaggtgtc	8	14	1	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr18:3134758C>T	uc002klp.2	-	16	2608	c.2274G>A	c.(2272-2274)TCG>TCA	p.S758S	MYOM1_uc002klq.2_Silent_p.S758S	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	758	Fibronectin type-III 3.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						ACTCCTCCCACGAAACTACCA	0.517													T	3134758	C	T	3134758	2	4	7	1	0	0	0	0	0	0	0	1	10091	523	19	1		1	MYOM1	18	3134758	Silent	SNP	C	TCGA-BR-4191-01A-02D-1126-08		3134758	74942490	189	6988											
FAM38B	63895	broad.mit.edu	37	chr18	10696150	10696150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgacctggaagatgacctttCccagtacagtcttcctgagg	10	11	1	4			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr18:10696150C>T	uc002kor.3	-	5	784	c.644G>A	c.(643-645)GGA>GAA	p.G215E	FAM38B_uc002koq.2_Missense_Mutation_p.G113E	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2258						integral to membrane	ion channel activity			ovary(1)	1						GATGACCTTTCCCAGTACAGT	0.512													T	10696150	C	T	10696150	3	4	7	1	0	0	0	0	1	0	0	0	5555	855	30	4	1525	4	FAM38B	18	10696150	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	7561392	10696150	67381098	190	6989											
CEP192	55125	broad.mit.edu	37	chr18	13040842	13040842	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtagccatcatttggctAttttattagatcaccagaga	7	7	2	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr18:13040842A>G	uc010xac.1	+	14	1903	c.1823A>G	c.(1822-1824)TAT>TGT	p.Y608C	CEP192_uc010dlf.1_Intron|CEP192_uc010xad.1_Missense_Mutation_p.Y133C|CEP192_uc002kru.2_RNA|CEP192_uc002krs.1_Missense_Mutation_p.Y349C	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	608										ovary(4)|pancreas(1)	5						TCATTTGGCTATTTTATTAGA	0.294													G	13040842	A	G	13040842	3	3	7	1	0	0	0	0	1	0	0	0	3251	449	16	3	1873	3	CEP192	18	13040842	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08	2344692	13040842	65036406	191	6990											
DSG1	1828	broad.mit.edu	37	chr18	28934840	28934840	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgggtcgaatgttatagTgacagaaagggtaatagcac	13	4	0	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr18:28934840T>G	uc002kwp.2	+	15	2893	c.2681T>G	c.(2680-2682)GTG>GGG	p.V894G	DSG1_uc010xbp.1_Missense_Mutation_p.V253G	NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	894	Cytoplasmic (Potential).|Desmoglein repeat 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AATGTTATAGTGACAGAAAGG	0.468													G	28934840	T	G	28934840	3	3	7	1	0	0	0	0	1	0	0	0	4776	1696	59	5	2739	5	DSG1	18	28934840	Missense_Mutation	SNP	T	TCGA-BR-4191-01A-02D-1126-08	15893998	28934840	49142408	192	6991											
DSG4	147409	broad.mit.edu	37	chr18	28989416	28989416	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcactttcttgggcagtGgctccactcttgctgctcct	9	13	3	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr18:28989416G>T	uc002kwq.2	+	13	2070	c.1935G>T	c.(1933-1935)TTG>TTT	p.L645F	DSG4_uc002kwr.2_Missense_Mutation_p.L645F	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2 preproprotein	645	Helical; (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTTGGGCAGTGGCTCCACTCT	0.502													T	28989416	G	T	28989416	3	4	7	1	0	0	0	0	1	0	0	0	4779	1362	47	5	1985	5	DSG4	18	28989416	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	54576	28989416	49087832	193	6992											
MCART2	147407	broad.mit.edu	37	chr18	29340618	29340618	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttttcatgagcttctgaatCtatcatgttgcttaagatct	6	8	5	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr18:29340618C>T	uc002kxa.2	-	1	226	c.7G>A	c.(7-9)GAT>AAT	p.D3N		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	mitochondrial carrier triple repeat 2	3					transport	integral to membrane|mitochondrial inner membrane				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(10;0.0539)			GCTTCTGAATCTATCATGTTG	0.368													T	29340618	C	T	29340618	3	4	7	1	0	0	0	0	1	0	0	0	9370	913	32	4	890	4	MCART2	18	29340618	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	351202	29340618	48736630	194	6993											
KIAA1468	57614	broad.mit.edu	37	chr18	59928806	59928806	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctttctgccttgcagtccttGatcccatctctctttgcatt	5	14	3	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr18:59928806G>C	uc002lil.2	+	16	2480	c.2265G>C	c.(2263-2265)TTG>TTC	p.L755F	KIAA1468_uc002lik.1_Missense_Mutation_p.L755F|KIAA1468_uc010xel.1_Missense_Mutation_p.L755F|KIAA1468_uc002lim.2_Missense_Mutation_p.L399F	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	755							binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				TGCAGTCCTTGATCCCATCTC	0.423													C	59928806	G	C	59928806	3	2	7	1	0	0	0	0	1	0	0	0	8236	1281	45	5	2327	5	KIAA1468	18	59928806	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	30588188	59928806	18148442	195	6994											
MBD3L1	85509	broad.mit.edu	37	chr19	8953560	8953560	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagcaggtctgctggcagaGgagactgcagggactccagg	16	10	2	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr19:8953560G>T	uc002mko.2	+	1	292	c.206G>T	c.(205-207)AGG>ATG	p.R69M		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like	69	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						TGCTGGCAGAGGAGACTGCAG	0.507													T	8953560	G	T	8953560	3	4	7	1	0	0	0	0	1	0	0	0	9345	1000	35	5	208	5	MBD3L1	19	8953560	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08		8953560	50175423	196	6995											
MUC16	94025	broad.mit.edu	37	chr19	9084075	9084075	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtttgctccagaggtgggTgtagttggggtctgtggtga	18	5	1	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr19:9084075T>G	uc002mkp.2	-	1	7944	c.7740A>C	c.(7738-7740)ACA>ACC	p.T2580T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2580	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CAGAGGTGGGTGTAGTTGGGG	0.483													G	9084075	T	G	9084075	2	3	7	1	0	0	0	0	0	0	0	1	9973	1683	59	5		5	MUC16	19	9084075	Silent	SNP	T	TCGA-BR-4191-01A-02D-1126-08	130515	9084075	50044908	197	6996											
ICAM3	3385	broad.mit.edu	37	chr19	10449619	10449619	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaaggaactcctgcccctGgacaccttcaggaacatgaa	8	13	1	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr19:10449619G>A	uc002mob.2	-	2	137	c.82C>T	c.(82-84)CAG>TAG	p.Q28*	ICAM3_uc010dxd.1_5'UTR|ICAM3_uc010xlf.1_Intron	NM_002162	NP_002153	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3 precursor	28					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			TCCTGCCCCTGGACACCTTCA	0.547													A	10449619	G	A	10449619	4	1	7	1	0	0	0	0	0	1	0	0	7481	1357	47	4	1585	4	ICAM3	19	10449619	Nonsense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	1365544	10449619	48679364	198	6997											
ZNF709	163051	broad.mit.edu	37	chr19	12576446	12576464	+	Frame_Shift_Del	DEL	GTAAAAGTTTTCTTGTTTG	GTAAAAGTTTTCTTGTTTG	-													attcatatggttttactctaGtaaaagttttcttgtttggt							TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr19:12576445_12576463AGTAAAAGTTTTCTTGTTTG>A	uc002mtv.4	-	3	434_452	c.273_291CAAACAAGAAAACTTTTACT>T	c.(271-291)ccaaacaagaaaacttttactfs	p.P91fs	ZNF709_uc002mtw.4_Frame_Shift_Del_p.P59fs|ZNF709_uc002mtx.4_Frame_Shift_Del_p.P91fs	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						GTTTTACTCTAGTAAAAGTTTTCTTGTTTGGTTTAGGAT	0.365													-	12576464	GTAAAAGTTTTCTTGTTTG	-	12576446	7	5	7	1	0	1	0	1	0	0	0	0	18110	1029	36	0	1639	0	ZNF709	19	12576446	Frame_Shift_Del	DEL	GTAAAAGTTTTCTTGTTTG	TCGA-BR-4191-01A-02D-1126-08	2126827	12576446	46552537	199	6998											
CACNA1A	773	broad.mit.edu	37	chr19	13445285	13445285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccgccggttctccacccGttccctttctttggcaaact	7	17	2	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr19:13445285G>A	uc010dze.2	-	8	1341	c.1105C>T	c.(1105-1107)CGG>TGG	p.R369W	CACNA1A_uc002mwy.3_Missense_Mutation_p.R369W	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	369	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTCTCCACCCGTTCCCTTTCT	0.438													A	13445285	G	A	13445285	3	1	7	1	0	0	0	0	1	0	0	0	2538	1144	40	1	6689	1	CACNA1A	19	13445285	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	868839	13445285	45683698	200	6999											
ARRDC2	27106	broad.mit.edu	37	chr19	18119572	18119572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccatgagttcctgttcagCttccagctgcccccgtaagt	9	15	1	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr19:18119572C>T	uc002nhv.2	+	2	470	c.327C>T	c.(325-327)AGC>AGT	p.S109S	ARRDC2_uc002nhu.2_Silent_p.S104S	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2 isoform 1	109										pancreas(1)	1						TCCTGTTCAGCTTCCAGCTGC	0.612													T	18119572	C	T	18119572	2	4	7	1	0	0	0	0	0	0	0	1	983	796	28	2		2	ARRDC2	19	18119572	Silent	SNP	C	TCGA-BR-4191-01A-02D-1126-08	4674287	18119572	41009411	201	7000											
SLC25A42	284439	broad.mit.edu	37	chr19	19217190	19217190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggatggccgtaaccccgaagGaaatgtgagtccttacatcg	12	10	0	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr19:19217190G>A	uc002nlf.1	+	6	644	c.493G>A	c.(493-495)GAA>AAA	p.E165K	SLC25A42_uc010xqn.1_Missense_Mutation_p.E217K	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	165	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			AACCCCGAAGGAAATGTGAGT	0.652													A	19217190	G	A	19217190	3	1	7	1	0	0	0	0	1	0	0	0	14507	1175	41	4	511	4	SLC25A42	19	19217190	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	1097618	19217190	39911793	202	7001											
DPY19L3	147991	broad.mit.edu	37	chr19	32949027	32949029	+	In_Frame_Del	DEL	GAT	GAT	-													aaattcttaacctgaagtcaGatgaacacatatttaaattt							TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr19:32949027_32949029delGAT	uc002ntg.2	+	11	1287_1289	c.1111_1113delGAT	c.(1111-1113)GATdel	p.D371del	DPY19L3_uc002nth.1_In_Frame_Del_p.D371del|DPY19L3_uc002nti.1_RNA	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3	371						integral to membrane				ovary(4)	4	Esophageal squamous(110;0.162)					CCTGAAGTCAGATGAACACATAT	0.34													-	32949029	GAT	-	32949027	7	5	7	1	0	1	0	1	0	0	0	0	4742	942	33	0	1149	0	DPY19L3	19	32949027	In_Frame_Del	DEL	GAT	TCGA-BR-4191-01A-02D-1126-08	13731837	32949027	26179956	203	7002											
CCDC114	93233	broad.mit.edu	37	chr19	48807339	48807339	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgcctccatctcgctctGggcctcctctttctccgcgc	8	20	4	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr19:48807339G>T	uc002pir.2	-	7	1296	c.613C>A	c.(613-615)CAG>AAG	p.Q205K	CCDC114_uc002piq.2_Missense_Mutation_p.Q14K|CCDC114_uc002pio.2_Missense_Mutation_p.Q242K|CCDC114_uc002pis.1_5'Flank|CCDC114_uc002pit.1_Missense_Mutation_p.Q242K|CCDC114_uc002piu.1_Missense_Mutation_p.Q242K	NM_144577	NP_653178	Q96M63	CC114_HUMAN	coiled-coil domain containing 114 isoform 2	205	Potential.									ovary(1)	1		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		ATCTCGCTCTGGGCCTCCTCT	0.657													T	48807339	G	T	48807339	3	4	7	1	0	0	0	0	1	0	0	0	2751	1357	47	5	1431	5	CCDC114	19	48807339	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	15858312	48807339	10321644	204	7003											
GP6	51206	broad.mit.edu	37	chr19	55543747	55543747	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgggcagagcctggagggAgggcttggggagcggtcctg	22	8	0	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr19:55543747A>T	uc002qik.2	-	3	113	c.85T>A	c.(85-87)TCC>ACC	p.S29T	GP6_uc002qil.2_Missense_Mutation_p.S29T|GP6_uc010esq.2_Missense_Mutation_p.S29T|RDH13_uc010esr.1_Intron	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet) isoform 2	29	Ig-like C2-type 1.|Extracellular (Potential).				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		GCCTGGAGGGAGGGCTTGGGG	0.721													T	55543747	A	T	55543747	3	4	7	1	0	0	0	0	1	0	0	0	6584	304	11	5	1801	5	GP6	19	55543747	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08	6736408	55543747	3585236	205	7004											
SUV420H2	84787	broad.mit.edu	37	chr19	55855158	55855158	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcagcatcatgtactcaaCccgcaagcggagtgctcagc	9	14	4	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr19:55855158C>A	uc002qkj.3	+	5	745	c.497C>A	c.(496-498)ACC>AAC	p.T166N	SUV420H2_uc002qkl.2_Missense_Mutation_p.T51N	NM_032701	NP_116090	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2	166	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding				0	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ATGTACTCAACCCGCAAGCGG	0.627													A	55855158	C	A	55855158	3	1	7	1	0	0	0	0	1	0	0	0	15412	507	18	5	511	5	SUV420H2	19	55855158	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	311411	55855158	3273825	206	7005											
L3MBTL	26013	broad.mit.edu	37	chr20	42162956	42162956	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcttcctggtcaatatgaaGctggaggctgtggaccgcag	14	9	1	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr20:42162956G>C	uc010zwh.1	+	15	1612	c.1566G>C	c.(1564-1566)AAG>AAC	p.K522N	L3MBTL_uc002xkl.2_Missense_Mutation_p.K454N|L3MBTL_uc002xkm.2_Missense_Mutation_p.K454N|L3MBTL_uc010ggl.2_Missense_Mutation_p.K454N|L3MBTL_uc002xkn.1_Missense_Mutation_p.K213N|L3MBTL_uc002xko.2_Missense_Mutation_p.K106N	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	454	MBT 3.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCAATATGAAGCTGGAGGCTG	0.637													C	42162956	G	C	42162956	3	2	7	1	0	0	0	0	1	0	0	0	8591	962	34	5	1408	5	L3MBTL	20	42162956	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08		42162956	20862564	207	7006											
R3HDML	140902	broad.mit.edu	37	chr20	42973984	42973984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctggggcaacacctggcatCgggcggcatacctggtctgc	14	13	2	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr20:42973984C>T	uc002xls.1	+	4	767	c.595C>T	c.(595-597)CGG>TGG	p.R199W		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like precursor	199						extracellular region	peptidase inhibitor activity				0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CACCTGGCATCGGGCGGCATA	0.577													T	42973984	C	T	42973984	3	4	7	1	0	0	0	0	1	0	0	0	12889	875	31	1	609	1	R3HDML	20	42973984	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	811028	42973984	20051536	208	7007											
ELMO2	63916	broad.mit.edu	37	chr20	45003240	45003240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtccaaggccagcattccagGaggagtctgggtaaagtcca	13	10	1	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr20:45003240G>A	uc002xrt.1	-	14	1315	c.1105C>T	c.(1105-1107)CCT>TCT	p.P369S	ELMO2_uc010zxq.1_Missense_Mutation_p.P101S|ELMO2_uc002xrs.1_Missense_Mutation_p.P116S|ELMO2_uc002xru.1_Missense_Mutation_p.P369S|ELMO2_uc010zxr.1_Missense_Mutation_p.P381S|ELMO2_uc010zxs.1_Missense_Mutation_p.P186S|ELMO2_uc002xrv.1_Missense_Mutation_p.P88S|ELMO2_uc002xrw.2_Missense_Mutation_p.P186S	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	369	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				AGCATTCCAGGAGGAGTCTGG	0.527													A	45003240	G	A	45003240	3	1	7	1	0	0	0	0	1	0	0	0	5066	1174	41	4	1093	4	ELMO2	20	45003240	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	2029256	45003240	18022280	209	7008											
ZFP64	55734	broad.mit.edu	37	chr20	50701719	50701720	+	Nonsense_Mutation	DNP	CC	CC	AA													ctcgcacttgaaaggcttctCccccgagtgcacgatcatgt							TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr20:50701719_50701720CC>AA	uc002xwk.2	-	9	1663_1664	c.1314_1315GG>TT	c.(1312-1317)GGGGAG>GGTTAG	p.E439*	ZFP64_uc002xwj.2_Nonsense_Mutation_p.E220*	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						AAAGGCTTCTCCCCCGAGTGCA	0.535													AA	50701720	CC	AA	50701719	4	1	7	1	0	0	0	0	0	1	0	0	17649	864	30	5	626	5	ZFP64	20	50701719	Nonsense_Mutation	DNP	CC	TCGA-BR-4191-01A-02D-1126-08	5698479	50701719	12323801	210	7009											
LAMA5	3911	broad.mit.edu	37	chr20	60909066	60909066	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agccagaaaaggtcaggggaGgtcaggttcagcctggccac	15	10	3	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr20:60909066G>C	uc002ycq.2	-	23	2836	c.2769C>G	c.(2767-2769)ACC>ACG	p.T923T		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	923	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTCAGGGGAGGTCAGGTTCA	0.667													C	60909066	G	C	60909066	2	2	7	1	0	0	0	0	0	0	0	1	8609	987	35	5		5	LAMA5	20	60909066	Silent	SNP	G	TCGA-BR-4191-01A-02D-1126-08	10207347	60909066	2116454	211	7010											
PCNT	5116	broad.mit.edu	37	chr21	47801629	47801629	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtgaatttggaagtgaaaaGaaaactgctttgcatgaaaa	11	3	0	4			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr21:47801629G>A	uc002zji.3	+	16	3293	c.3186G>A	c.(3184-3186)AAG>AAA	p.K1062K	PCNT_uc002zjj.2_Silent_p.K944K	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1062	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GAAGTGAAAAGAAAACTGCTT	0.403													A	47801629	G	A	47801629	2	1	7	1	0	0	0	0	0	0	0	1	11590	933	33	4		4	PCNT	21	47801629	Silent	SNP	G	TCGA-BR-4191-01A-02D-1126-08		47801629	328266	212	7011											
GSTT2	2953	broad.mit.edu	37	chr22	24323218	24323218	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaggatggtgatttcatcttGaccgaaaggtgccctccttc	10	10	2	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr22:24323218G>C	uc002zzb.3	+	2	267	c.192G>C	c.(190-192)TTG>TTC	p.L64F	DDT_uc002zza.3_5'Flank|GSTT2_uc002zzc.3_Missense_Mutation_p.L64F	NM_000854	NP_000845	P0CG30	GSTT2_HUMAN	glutathione S-transferase theta 2	64	GST N-terminal.					cytoplasm	glutathione transferase activity				0						ATTTCATCTTGACCGAAAGGT	0.597													C	24323218	G	C	24323218	3	2	7	1	0	0	0	0	1	0	0	0	6846	1281	45	5	953	5	GSTT2	22	24323218	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08		24323218	26981348	213	7012											
PES1	23481	broad.mit.edu	37	chr22	30975222	30975222	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcctcctcattttctcCctcttcatcaccatcacctt	0	20	6	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr22:30975222C>G	uc003aij.1	-	13	1497	c.1423G>C	c.(1423-1425)GGA>CGA	p.G475R	PES1_uc003aik.1_Missense_Mutation_p.G470R|PES1_uc003ail.1_Missense_Mutation_p.G458R|PES1_uc003aim.1_Missense_Mutation_p.G475R|PES1_uc003ain.1_Missense_Mutation_p.G336R|PES1_uc003aio.1_Missense_Mutation_p.G336R	NM_014303	NP_055118	O00541	PESC_HUMAN	pescadillo homolog 1, containing BRCT domain	475	Glu-rich.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						tcattttctccctcttcatca	0.259													G	30975222	C	G	30975222	3	3	7	1	0	0	0	0	1	0	0	0	11733	632	22	5	355	5	PES1	22	30975222	Missense_Mutation	SNP	C	TCGA-BR-4191-01A-02D-1126-08	6652004	30975222	20329344	214	7013											
MXRA5	25878	broad.mit.edu	37	chrX	3235405	3235405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggttgcggatgtagagcGtcccgttggggaaaacaaac	15	8	0	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chrX:3235405G>A	uc004crg.3	-	6	6474	c.6317C>T	c.(6316-6318)ACG>ATG	p.T2106M		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2106	Ig-like C2-type 5.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GATGTAGAGCGTCCCGTTGGG	0.677													A	3235405	G	A	3235405	3	1	7	1	0	0	0	0	1	0	0	0	10003	1145	40	1	2177	1	MXRA5	23	3235405	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08		3235405	152035155	215	7014											
DMD	1756	broad.mit.edu	37	chrX	31947780	31947780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgctcttctgggcttatgGgagcacttacaagcacgggt	12	10	2	0			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chrX:31947780G>A	uc004dda.1	-	47	7089	c.6845C>T	c.(6844-6846)CCC>CTC	p.P2282L	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.P938L|DMD_uc004dcx.2_Missense_Mutation_p.P941L|DMD_uc004dcz.2_Missense_Mutation_p.P2159L|DMD_uc004dcy.1_Missense_Mutation_p.P2278L|DMD_uc004ddb.1_Missense_Mutation_p.P2274L|DMD_uc010ngn.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2282	Spectrin 16.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGGGCTTATGGGAGCACTTAC	0.438													A	31947780	G	A	31947780	3	1	7	1	0	0	0	0	1	0	0	0	4580	1232	43	4	4492	4	DMD	23	31947780	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	28712375	31947780	123322780	216	7015											
DMD	1756	broad.mit.edu	37	chrX	32834625	32834625	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcaaagccaggccatcagAccagctggtggtgaagttga	12	9	2	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chrX:32834625A>G	uc004dda.1	-	6	734	c.490T>C	c.(490-492)TCT>CCT	p.S164P	DMD_uc004dcz.2_Missense_Mutation_p.S41P|DMD_uc004dcy.1_Missense_Mutation_p.S160P|DMD_uc004ddb.1_Missense_Mutation_p.S156P|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.S156P|DMD_uc010ngp.1_Missense_Mutation_p.S41P|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	164	CH 2.|Actin-binding.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGGCCATCAGACCAGCTGGTG	0.403													G	32834625	A	G	32834625	3	3	7	1	0	0	0	0	1	0	0	0	4580	275	10	3	11106	3	DMD	23	32834625	Missense_Mutation	SNP	A	TCGA-BR-4191-01A-02D-1126-08	886845	32834625	122435935	217	7016											
MTMR8	55613	broad.mit.edu	37	chrX	63568642	63568643	+	Frame_Shift_Del	DEL	AG	AG	-													acacagcgagtgtaaaatccAgagagaggctggctacagcg							TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chrX:63568642_63568643delAG	uc004dvs.2	-	6	697_698	c.629_630delCT	c.(628-630)TCTfs	p.S210fs	MTMR8_uc011mou.1_Frame_Shift_Del_p.S210fs|MTMR8_uc004dvt.1_Frame_Shift_Del_p.S210fs	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	210	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						TGTAAAATCCAGAGAGAGGCTG	0.446													-	63568643	AG	-	63568642	7	5	7	1	0	1	0	1	0	0	0	0	9949	175	7	0	1520	0	MTMR8	23	63568642	Frame_Shift_Del	DEL	AG	TCGA-BR-4191-01A-02D-1126-08	30734017	63568642	91701918	218	7017											
RGAG4	340526	broad.mit.edu	37	chrX	71350836	71350836	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcagaaaggccacccgctcGgcgcccccggggaaatgaac	12	15	1	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chrX:71350836G>T	uc010nlh.1	-	1	916	c.555C>A	c.(553-555)GCC>GCA	p.A185A	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	185								p.S185S(1)		ovary(2)|skin(1)	3	Renal(35;0.156)					CCACCCGCTCGGCGCCCCCGG	0.577													T	71350836	G	T	71350836	2	4	7	1	0	0	0	0	0	0	0	1	13275	1103	39	5		5	RGAG4	23	71350836	Silent	SNP	G	TCGA-BR-4191-01A-02D-1126-08	7782194	71350836	83919724	219	7018											
GPRASP1	9737	broad.mit.edu	37	chrX	101911869	101911869	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtcctggttctgggcaggaGatgaggcccattttgaatca	14	8	2	3			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chrX:101911869G>A	uc004ejj.3	+	5	3829	c.3028G>A	c.(3028-3030)GAT>AAT	p.D1010N	GPRASP1_uc004eji.3_Missense_Mutation_p.D1010N|GPRASP1_uc010nod.2_Missense_Mutation_p.D1010N	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	1010	OPRD1-binding.					cytoplasm	protein binding			ovary(1)|lung(1)	2						CTGGGCAGGAGATGAGGCCCA	0.522													A	101911869	G	A	101911869	3	1	7	1	0	0	0	0	1	0	0	0	6722	942	33	4	3030	4	GPRASP1	23	101911869	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	30561033	101911869	53358691	220	7019											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686084	125686084	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggccaggctgttggggtTttcgccgccggtggccagaa	17	10	0	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chrX:125686084T>G	uc004eul.2	-	1	759	c.508A>C	c.(508-510)AAC>CAC	p.N170H		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	170	WD 1.									skin(3)|ovary(1)	4						CTGTTGGGGTTTTCGCCGCCG	0.667													G	125686084	T	G	125686084	3	3	7	1	0	0	0	0	1	0	0	0	4264	1841	64	5	887	5	DCAF12L1	23	125686084	Missense_Mutation	SNP	T	TCGA-BR-4191-01A-02D-1126-08	23774215	125686084	29584476	221	7020											
OCRL	4952	broad.mit.edu	37	chrX	128703265	128703265	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaatgccgggttccagcctgGtgtgaccgaattctttggag	13	9	1	1			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chrX:128703265G>C	uc004euq.2	+	15	1656	c.1491G>C	c.(1489-1491)TGG>TGC	p.W497C	OCRL_uc004eur.2_Missense_Mutation_p.W497C	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	497					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			lung(2)|ovary(1)|kidney(1)	4						TTCCAGCCTGGTGTGACCGAA	0.433													C	128703265	G	C	128703265	3	2	7	1	0	0	0	0	1	0	0	0	10823	1270	44	5	1549	5	OCRL	23	128703265	Missense_Mutation	SNP	G	TCGA-BR-4191-01A-02D-1126-08	3017181	128703265	26567295	222	7021											
FRMD7	90167	broad.mit.edu	37	chrX	131220027	131220027	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtttgtgccagatgctTcctatctgtttcttcatgaa	8	10	3	2			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chrX:131220027T>A	uc004ewn.2	-	6	596	c.418A>T	c.(418-420)AAG>TAG	p.K140*	FRMD7_uc011muy.1_Nonsense_Mutation_p.K125*	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	140	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)					GCCAGATGCTTCCTATCTGTT	0.428													A	131220027	T	A	131220027	4	1	7	1	0	0	0	0	0	1	0	0	6055	1792	62	5	1754	5	FRMD7	23	131220027	Nonsense_Mutation	SNP	T	TCGA-BR-4191-01A-02D-1126-08	2516762	131220027	24050533	223	7022											
CCDC27	148870	broad.mit.edu	37	chr1	3688025	3688026	+	Frame_Shift_Ins	INS	-	-	C													gcagaaaggcgtcaaagtgcINScccccctgcaacagtcagag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:3688024_3688025G>GC	uc001akv.2	+	11	1989_1990	c.1908_1909G>GC	c.(1906-1911)gtgcccfs	p.V636fs	LOC388588_uc001akw.4_5'Flank	NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	636										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GCGTCAAAGTGCCCCCCCTGCA	0.55													C	3688026	-	C	3688025	7	5	8	1	0	1	1	0	0	0	0	0	2801	739	26	0	1955	0	CCDC27	1	3688025	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08		3688025	245562596	1	7023											
LRRC47	57470	broad.mit.edu	37	chr1	3697831	3697831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagttgtccagagactgcatCggcttcagtatctgagagtg	12	8	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:3697831C>T	uc001akx.1	-	7	1601	c.1573G>A	c.(1573-1575)GAT>AAT	p.D525N		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	525					translation		phenylalanine-tRNA ligase activity|RNA binding			large_intestine(1)|ovary(1)	2	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GAGACTGCATCGGCTTCAGTA	0.443													T	3697831	C	T	3697831	3	4	8	1	0	0	0	0	1	0	0	0	9004	884	31	1	182	1	LRRC47	1	3697831	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	9806	3697831	245552790	2	7024											
PER3	8863	broad.mit.edu	37	chr1	7858597	7858597	+	Frame_Shift_Del	DEL	C	C	-													ctcctcagtggaggtgaagaCagaaagcaagagaagtgtca							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:7858596_7858596AC>A	uc001aop.3	+	5	880	c.656_656AC>A	c.(655-657)gacfs	p.D219fs	PER3_uc009vmg.1_Frame_Shift_Del_p.D219fs|PER3_uc009vmh.1_Frame_Shift_Del_p.D219fs|PER3_uc001aoo.3_Frame_Shift_Del_p.D218fs|PER3_uc010nzw.2_5'UTR|PER3_uc001aon.3_Frame_Shift_Del_p.D218fs	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGTGAAGACAGAAAGCAA	0.478													-	7858597	C	-	7858597	7	5	8	1	0	1	0	1	0	0	0	0	11731	477	17	0	676	0	PER3	1	7858597	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	4160766	7858597	241392024	3	7025											
H6PD	9563	broad.mit.edu	37	chr1	9307041	9307041	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggctgtggcgcagatccTgcctttccgagaccagaacc	11	14	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:9307041T>C	uc001apt.2	+	3	917	c.644T>C	c.(643-645)CTG>CCG	p.L215P		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	215	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding				0	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GCGCAGATCCTGCCTTTCCGA	0.607													C	9307041	T	C	9307041	3	2	8	1	0	0	0	0	1	0	0	0	6936	1580	55	3	650	3	H6PD	1	9307041	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	1448444	9307041	239943580	4	7026											
PIK3CD	5293	broad.mit.edu	37	chr1	9778917	9778917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctctgctttgcgctgtacGccgtgatcgagaaagccaag	12	11	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:9778917G>A	uc001aqb.3	+	9	1394	c.1186G>A	c.(1186-1188)GCC>ACC	p.A396T	PIK3CD_uc010oaf.1_Missense_Mutation_p.A396T|PIK3CD_uc001aqe.3_Missense_Mutation_p.A361T	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	396					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(4)|skin(2)|central_nervous_system(1)	7	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TGCGCTGTACGCCGTGATCGA	0.647													A	9778917	G	A	9778917	3	1	8	1	0	0	0	0	1	0	0	0	11915	1087	38	1	1212	1	PIK3CD	1	9778917	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	471876	9778917	239471704	5	7027											
CASZ1	54897	broad.mit.edu	37	chr1	10715762	10715762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcagccgtggtagtagaCgctgcagtcgtccagcgggc	17	11	0	1	rs150917673	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:10715762C>T	uc001aro.2	-	9	1929	c.1609G>A	c.(1609-1611)GTC>ATC	p.V537I	CASZ1_uc001arp.1_Missense_Mutation_p.V537I|CASZ1_uc009vmx.2_Missense_Mutation_p.V561I	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	537					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGGTAGTAGACGCTGCAGTCG	0.622													T	10715762	C	T	10715762	3	4	8	1	0	0	0	0	1	0	0	0	2685	536	19	1	3726	1	CASZ1	1	10715762	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	936845	10715762	238534859	6	7028											
C1orf127	148345	broad.mit.edu	37	chr1	11007833	11007833	+	Frame_Shift_Del	DEL	C	C	-													cagctcctgctggagtgaggCcccccggccagcctggaagg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:11007833delC	uc010oao.1	-	8	1917	c.1912delG	c.(1912-1914)GCCfs	p.A638fs	C1orf127_uc001arr.1_Frame_Shift_Del_p.A620fs|C1orf127_uc001ars.1_Frame_Shift_Del_p.A612fs	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	hypothetical protein LOC148345	638										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TGGAGTGAGGCCCCCCGGCCA	0.627													-	11007833	C	-	11007833	7	5	8	1	0	1	0	1	0	0	0	0	1994	739	26	0	116	0	C1orf127	1	11007833	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	292071	11007833	238242788	7	7029											
EXOSC10	5394	broad.mit.edu	37	chr1	11142746	11142746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtaagagcaaactgaccGtattctccaatcagccagct	7	12	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:11142746G>A	uc001asa.2	-	10	1329	c.1279C>T	c.(1279-1281)CGC>TGC	p.R427C	EXOSC10_uc001asb.2_Missense_Mutation_p.R427C|EXOSC10_uc009vmy.1_Missense_Mutation_p.R427C	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	exosome component 10 isoform 1	427					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			upper_aerodigestive_tract(1)	1	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CAAACTGACCGTATTCTCCAA	0.488													A	11142746	G	A	11142746	3	1	8	1	0	0	0	0	1	0	0	0	5314	1159	40	1	1442	1	EXOSC10	1	11142746	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	134913	11142746	238107875	8	7030											
PTCHD2	57540	broad.mit.edu	37	chr1	11574466	11574466	+	Frame_Shift_Del	DEL	G	G	-													gcaaagtccaggttctctatGgggggacagacctgtttgac							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:11574465_11574465TG>T	uc001ash.4	+	3	1473	c.1335_1335TG>T	c.(1333-1335)tatfs	p.Y445fs	PTCHD2_uc001asi.1_Frame_Shift_Del_p.Y445fs	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	445					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGGTTCTCTATGGGGGGACAG	0.512													-	11574466	G	-	11574466	7	5	8	1	0	1	0	1	0	0	0	0	12733	1348	47	0	1346	0	PTCHD2	1	11574466	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	431720	11574466	237676155	9	7031											
PRDM2	7799	broad.mit.edu	37	chr1	14057532	14057532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggccaccgagaccctggCtgaggtacccgaacatgtgc	14	14	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:14057532C>T	uc001avi.2	+	3	903	c.47C>T	c.(46-48)GCT>GTT	p.A16V	PRDM2_uc001avg.2_Missense_Mutation_p.A16V|PRDM2_uc001avh.2_Missense_Mutation_p.A16V|PRDM2_uc001avj.2_RNA	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	16						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAGACCCTGGCTGAGGTACCC	0.512													T	14057532	C	T	14057532	3	4	8	1	0	0	0	0	1	0	0	0	12458	797	28	2	53	2	PRDM2	1	14057532	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2483066	14057532	235193089	10	7032											
PRDM2	7799	broad.mit.edu	37	chr1	14105166	14105166	+	Frame_Shift_Del	DEL	G	G	-													gatgatgagttggaagacgaGggggaagaagaagccagcat							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:14105165_14105165AG>A	uc001avi.3	+	7	1731	c.875_875AG>A	c.(874-876)gagfs	p.E292fs	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Frame_Shift_Del_p.E292fs|PRDM2_uc021ogk.1_Frame_Shift_Del_p.E55fs|PRDM2_uc001avk.3_Frame_Shift_Del_p.E91fs|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	292	Asp/Glu-rich (acidic).			EDEEEEEDDDDDELEDEG -> VGGGGGVVVVVSWKARGE (in Ref. 4; AAA87023).		Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ttggaagacgagggggaagaa	0.448													-	14105166	G	-	14105166	7	5	8	1	0	1	0	1	0	0	0	0	12458	991	35	0	902	0	PRDM2	1	14105166	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	47634	14105166	235145455	11	7033											
SPEN	23013	broad.mit.edu	37	chr1	16258453	16258453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgccggaatgtaaggagCgtctatgcaaccatgggtga	15	8	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:16258453C>T	uc001axk.1	+	11	5922	c.5718C>T	c.(5716-5718)AGC>AGT	p.S1906S	SPEN_uc010obp.1_Silent_p.S1865S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1906					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATGTAAGGAGCGTCTATGCAA	0.507													T	16258453	C	T	16258453	2	4	8	1	0	0	0	0	0	0	0	1	15037	767	27	1		1	SPEN	1	16258453	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2153287	16258453	232992168	12	7034											
SPEN	23013	broad.mit.edu	37	chr1	16259480	16259480	+	Frame_Shift_Del	DEL	C	C	-													aatcccagacagatctgcaaCcccccgcaggtgcacaggcg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:16259479_16259479AC>A	uc001axk.1	+	10	6948	c.6744_6744AC>A	c.(6742-6744)caafs	p.Q2248fs	SPEN_uc010obp.1_Frame_Shift_Del_p.Q2207fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2248	Interaction with MSX2 (By similarity).|RID.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGATCTGCAACCCCCCGCAG	0.552													-	16259480	C	-	16259480	7	5	8	1	0	1	0	1	0	0	0	0	15037	507	18	0	6787	0	SPEN	1	16259480	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	1027	16259480	232991141	13	7035											
EPHA2	1969	broad.mit.edu	37	chr1	16464386	16464386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactggcagtacggaagctgCggctggttaccaggcctgag	15	11	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:16464386C>T	uc001aya.1	-	5	1411	c.1274G>A	c.(1273-1275)CGC>CAC	p.R425H	EPHA2_uc010oca.1_Missense_Mutation_p.R425H	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	425	Extracellular (Potential).|Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACGGAAGCTGCGGCTGGTTAC	0.632													T	16464386	C	T	16464386	3	4	8	1	0	0	0	0	1	0	0	0	5167	768	27	1	1708	1	EPHA2	1	16464386	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	204906	16464386	232786235	14	7036											
ATP13A2	23400	broad.mit.edu	37	chr1	17313587	17313587	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccccctagctgcacgccggTcaccaggaccatctgcagca	10	18	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:17313587T>C	uc001baa.2	-	26	3227	c.3037A>G	c.(3037-3039)ACC>GCC	p.T1013A	ATP13A2_uc001azz.1_Missense_Mutation_p.T160A|ATP13A2_uc001bab.2_Missense_Mutation_p.T1008A|ATP13A2_uc001bac.2_Missense_Mutation_p.T969A	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	1013	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGCACGCCGGTCACCAGGACC	0.711													C	17313587	T	C	17313587	3	2	8	1	0	0	0	0	1	0	0	0	1124	1667	58	3	757	3	ATP13A2	1	17313587	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	849201	17313587	231937034	15	7037											
PADI1	29943	broad.mit.edu	37	chr1	17566229	17566229	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcaaaaagaagcattaAtgagatgctggcagacagac	11	8	0	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:17566229A>T	uc001bah.1	+	14	1675	c.1583A>T	c.(1582-1584)AAT>ATT	p.N528I	PADI1_uc010oco.1_Missense_Mutation_p.N85I|PADI1_uc010ocp.1_Missense_Mutation_p.N85I|PADI1_uc010ocq.1_5'UTR|PADI1_uc009vpb.1_5'UTR	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	peptidylarginine deiminase type I	528					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity				0		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AGAAGCATTAATGAGATGCTG	0.532													T	17566229	A	T	17566229	3	4	8	1	0	0	0	0	1	0	0	0	11377	101	4	5	1637	5	PADI1	1	17566229	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	252642	17566229	231684392	16	7038											
CAPZB	832	broad.mit.edu	37	chr1	19671710	19671710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcccgatgttggctatgtGtggggagcagtcactcacag	15	10	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:19671710G>A	uc010ocz.1	-	7	1140	c.712C>T	c.(712-714)CAC>TAC	p.H238Y	CAPZB_uc001bce.2_Missense_Mutation_p.H209Y|CAPZB_uc009vpk.2_Missense_Mutation_p.H235Y|CAPZB_uc001bcd.2_Missense_Mutation_p.H197Y	NM_004930	NP_004921	P47756	CAPZB_HUMAN	F-actin capping protein beta subunit	209					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding				0		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TTGGCTATGTGTGGGGAGCAG	0.567													A	19671710	G	A	19671710	3	1	8	1	0	0	0	0	1	0	0	0	2643	1377	48	4	205	4	CAPZB	1	19671710	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2105481	19671710	229578911	17	7039											
TMCO4	255104	broad.mit.edu	37	chr1	20009604	20009604	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccagtgggttggggtccaTgccatggctgcagatggggg	19	9	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:20009604T>C	uc001bcn.2	-	16	2076	c.1834A>G	c.(1834-1836)ATG>GTG	p.M612V	TMCO4_uc001bcm.2_Missense_Mutation_p.M443V|TMCO4_uc001bco.1_Intron|TMCO4_uc001bcp.1_Intron	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	612						integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TTGGGGTCCATGCCATGGCTG	0.682													C	20009604	T	C	20009604	3	2	8	1	0	0	0	0	1	0	0	0	15995	1464	51	3	74	3	TMCO4	1	20009604	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	337894	20009604	229241017	18	7040											
PLA2G2D	26279	broad.mit.edu	37	chr1	20442089	20442089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtggtcatagcagcagTcatgggtctggcagcacctg	14	10	4	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:20442089T>C	uc001bcz.2	-	3	220	c.203A>G	c.(202-204)GAC>GGC	p.D68G	PLA2G2D_uc009vpo.2_Intron	NM_012400	NP_036532	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID precursor	68		Calcium (By similarity).			inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity				0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATAGCAGCAGTCATGGGTCTG	0.572										Multiple Myeloma(11;0.12)			C	20442089	T	C	20442089	3	2	8	1	0	0	0	0	1	0	0	0	11997	1667	58	3	242	3	PLA2G2D	1	20442089	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	432485	20442089	228808532	19	7041											
NBPF3	84224	broad.mit.edu	37	chr1	21795231	21795231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcatggtggtatctgccGgcccttggtccggtgagaag	15	10	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:21795231G>A	uc001ber.2	+	3	534	c.184G>A	c.(184-186)GGC>AGC	p.G62S	NBPF3_uc001bes.2_Missense_Mutation_p.G6S|NBPF3_uc009vqb.2_Missense_Mutation_p.G62S|NBPF3_uc010odm.1_Intron	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	62						cytoplasm				upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGTATCTGCCGGCCCTTGGTC	0.517											OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	21795231	G	A	21795231	3	1	8	1	0	0	0	0	1	0	0	0	10197	1116	39	1	190	1	NBPF3	1	21795231	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1353142	21795231	227455390	20	7042											
ZBTB40	9923	broad.mit.edu	37	chr1	22839533	22839533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaccttcgccttcacaccGgggaccgcccgttcatgtgc	9	18	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:22839533G>A	uc001bft.2	+	13	3089	c.2578G>A	c.(2578-2580)GGG>AGG	p.G860R	ZBTB40_uc001bfu.2_Missense_Mutation_p.G860R|ZBTB40_uc009vqi.1_Missense_Mutation_p.G748R	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	860					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CCTTCACACCGGGGACCGCCC	0.577													A	22839533	G	A	22839533	3	1	8	1	0	0	0	0	1	0	0	0	17539	1116	39	1	2620	1	ZBTB40	1	22839533	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1044302	22839533	226411088	21	7043											
KDM1A	23028	broad.mit.edu	37	chr1	23409681	23409681	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctaaaatagccgattccaCgactcttctttgcgggagaa	8	12	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:23409681C>T	uc001bgi.2	+	19	2532	c.2383C>T	c.(2383-2385)CGA>TGA	p.R795*	KDM1A_uc001bgj.2_Nonsense_Mutation_p.R819*	NM_015013	NP_055828	O60341	KDM1A_HUMAN	lysine-specific histone demethylase 1 isoform b	795	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2						GCCGATTCCACGACTCTTCTT	0.458													T	23409681	C	T	23409681	4	4	8	1	0	0	0	0	0	1	0	0	8122	528	19	1	2537	1	KDM1A	1	23409681	Nonsense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	570148	23409681	225840940	22	7044											
IL22RA1	58985	broad.mit.edu	37	chr1	24448013	24448013	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggcacgttggagggcTggaggatggagatgtctggc	21	5	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:24448013T>C	uc001biq.1	-	7	1046	c.1007A>G	c.(1006-1008)CAG>CGG	p.Q336R	IL22RA1_uc010oeg.1_Missense_Mutation_p.Q268R|IL22RA1_uc009vrb.1_Missense_Mutation_p.Q200R|IL22RA1_uc010oeh.1_Missense_Mutation_p.Q336R	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1 precursor	336	Cytoplasmic (Potential).					integral to membrane	interferon receptor activity			skin(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GTTGGAGGGCTGGAGGATGGA	0.637													C	24448013	T	C	24448013	3	2	8	1	0	0	0	0	1	0	0	0	7673	1580	55	3	721	3	IL22RA1	1	24448013	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	1038332	24448013	224802608	23	7045											
CD52	1043	broad.mit.edu	37	chr1	26646688	26646688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggactctcaggacaaaaCgacaccagccaaaccagcag	8	14	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:26646688C>T	uc001bmc.2	+	2	179	c.81C>T	c.(79-81)AAC>AAT	p.N27N	UBXN11_uc001bma.2_5'Flank	NM_001803	NP_001794	P31358	CD52_HUMAN	CD52 antigen precursor	27					elevation of cytosolic calcium ion concentration|respiratory burst	anchored to membrane|integral to plasma membrane|membrane fraction					0		all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649)	Alemtuzumab(DB00087)	CAGGACAAAACGACACCAGCC	0.403													T	26646688	C	T	26646688	2	4	8	1	0	0	0	0	0	0	0	1	3022	535	19	1		1	CD52	1	26646688	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2198675	26646688	222603933	24	7046											
AIM1L	55057	broad.mit.edu	37	chr1	26669262	26669262	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacccagacaaccctccttaGggagccgatgccttggggac	11	15	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:26669262G>T	uc001bmd.3	-	4	482	c.52C>A	c.(52-54)CTA>ATA	p.L18I		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	18							sugar binding			pancreas(1)	1		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		ACCCTCCTTAGGGAGCCGATG	0.507													T	26669262	G	T	26669262	3	4	8	1	0	0	0	0	1	0	0	0	431	991	35	5	1862	5	AIM1L	1	26669262	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	22574	26669262	222581359	25	7047											
RPS6KA1	6195	broad.mit.edu	37	chr1	26883502	26883502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcagaagctataccgtcGtgagatcaagccacccttca	9	12	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:26883502G>A	uc001bmr.1	+	13	1158	c.995G>A	c.(994-996)CGT>CAT	p.R332H	RPS6KA1_uc010ofe.1_Missense_Mutation_p.R240H|RPS6KA1_uc010off.1_Missense_Mutation_p.R316H|RPS6KA1_uc001bms.1_Missense_Mutation_p.R341H|RPS6KA1_uc009vsl.1_Missense_Mutation_p.R175H	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	332	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CTATACCGTCGTGAGATCAAG	0.597													A	26883502	G	A	26883502	3	1	8	1	0	0	0	0	1	0	0	0	13650	1145	40	1	1184	1	RPS6KA1	1	26883502	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	214240	26883502	222367119	26	7048											
ARID1A	8289	broad.mit.edu	37	chr1	27094434	27094434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgctgtgggtaggaaaCctctggacctctatcgcctc	11	13	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:27094434C>T	uc001bmv.1	+	11	3515	c.3142C>T	c.(3142-3144)CCT>TCT	p.P1048S	ARID1A_uc001bmt.1_Missense_Mutation_p.P1048S|ARID1A_uc001bmu.1_Missense_Mutation_p.P1048S|ARID1A_uc001bmw.1_Missense_Mutation_p.P665S	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1048	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGGTAGGAAACCTCTGGACCT	0.552			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								T	27094434	C	T	27094434	3	4	8	1	0	0	0	0	1	0	0	0	913	507	18	4	3184	4	ARID1A	1	27094434	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	210932	27094434	222156187	27	7049											
SLC9A1	6548	broad.mit.edu	37	chr1	27436202	27436202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgaagaagctcaggaagcCgaggaagatgtccacgatgc	13	10	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:27436202C>T	uc001bnm.2	-	3	1506	c.880G>A	c.(880-882)GGC>AGC	p.G294S	SLC9A1_uc010ofk.1_5'UTR|SLC9A1_uc001bnn.2_Missense_Mutation_p.G294S	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	294	Extracellular (Potential).				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CTCAGGAAGCCGAGGAAGATG	0.612													T	27436202	C	T	27436202	3	4	8	1	0	0	0	0	1	0	0	0	14709	652	23	1	1607	1	SLC9A1	1	27436202	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	341768	27436202	221814419	28	7050											
HDAC1	3065	broad.mit.edu	37	chr1	32794717	32794717	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgttaactacccgctcCgagacgggattgatgacgag	12	10	0	3	rs145372036		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:32794717C>T	uc001bvb.1	+	7	748	c.685C>T	c.(685-687)CGA>TGA	p.R229*	HDAC1_uc010ohf.1_Nonsense_Mutation_p.R200*|HDAC1_uc001bvc.1_5'Flank	NM_004964	NP_004955	Q13547	HDAC1_HUMAN	histone deacetylase 1	229	Histone deacetylase.				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)	3		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	CTACCCGCTCCGAGACGGGAT	0.483													T	32794717	C	T	32794717	4	4	8	1	0	0	0	0	0	1	0	0	7004	644	23	1	711	1	HDAC1	1	32794717	Nonsense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	5358515	32794717	216455904	29	7051											
S100PBP	64766	broad.mit.edu	37	chr1	33318764	33318764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatccttcggacctcaccaCgcggtgagtgggtgattaga	13	11	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:33318764C>T	uc001bvz.2	+	6	1386	c.1109C>T	c.(1108-1110)ACG>ATG	p.T370M	S100PBP_uc001bwc.2_Missense_Mutation_p.T370M|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	370						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GACCTCACCACGCGGTGAGTG	0.348													T	33318764	C	T	33318764	3	4	8	1	0	0	0	0	1	0	0	0	13791	536	19	1	1132	1	S100PBP	1	33318764	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	524047	33318764	215931857	30	7052											
CSMD2	114784	broad.mit.edu	37	chr1	34046380	34046380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggatcttgaagcccttccGattgtaggcgtgatcagatg	13	9	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:34046380G>A	uc001bxn.1	-	49	7395	c.7366C>T	c.(7366-7368)CGG>TGG	p.R2456W	CSMD2_uc001bxm.1_Missense_Mutation_p.R2454W	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2456	CUB 14.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAGCCCTTCCGATTGTAGGCG	0.517													A	34046380	G	A	34046380	3	1	8	1	0	0	0	0	1	0	0	0	3945	1057	37	1	3181	1	CSMD2	1	34046380	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	727616	34046380	215204241	31	7053											
CSMD2	114784	broad.mit.edu	37	chr1	34102053	34102053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcaacttcgtagccccCgtggcagtagtaggtgacgg	13	13	1	1	rs34594465		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:34102053C>T	uc001bxn.1	-	30	4785	c.4756G>A	c.(4756-4758)GGG>AGG	p.G1586R	CSMD2_uc001bxm.1_Missense_Mutation_p.G1626R|CSMD2_uc001bxo.1_Missense_Mutation_p.G499R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1586	Extracellular (Potential).|Sushi 9.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCGTAGCCCCCGTGGCAGTAG	0.622													T	34102053	C	T	34102053	3	4	8	1	0	0	0	0	1	0	0	0	3945	652	23	1	5867	1	CSMD2	1	34102053	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	55673	34102053	215148568	32	7054											
C1orf94	84970	broad.mit.edu	37	chr1	34666585	34666585	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaagaacccaagcgggCagccgagacttcgaaacaaa	9	14	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:34666585C>T	uc001bxs.3	+	3	1051	c.652C>T	c.(652-654)CAG>TAG	p.Q218*	C1orf94_uc001bxt.2_Nonsense_Mutation_p.Q408*	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	218							protein binding				0		Myeloproliferative disorder(586;0.0393)				CCCAAGCGGGCAGCCGAGACT	0.592													T	34666585	C	T	34666585	4	4	8	1	0	0	0	0	0	1	0	0	2071	711	25	2	1232	2	C1orf94	1	34666585	Nonsense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	564532	34666585	214584036	33	7055											
DLGAP3	58512	broad.mit.edu	37	chr1	35334284	35334284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttctccacctctgcccGcagcatcttgatgaaccact	6	17	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:35334284G>A	uc001byc.2	-	7	2407	c.2407C>T	c.(2407-2409)CGG>TGG	p.R803W		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	803					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				ACCTCTGCCCGCAGCATCTTG	0.642													A	35334284	G	A	35334284	3	1	8	1	0	0	0	0	1	0	0	0	4561	1086	38	1	548	1	DLGAP3	1	35334284	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	667699	35334284	213916337	34	7056											
NCDN	23154	broad.mit.edu	37	chr1	36029369	36029369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccccctttcttttccaggCgtgacgcctgcttcacatct	6	17	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:36029369C>T	uc001bza.2	+	7	1739	c.1612C>T	c.(1612-1614)CGT>TGT	p.R538C	NCDN_uc001bzb.2_Missense_Mutation_p.R538C|NCDN_uc001bzc.2_Missense_Mutation_p.R521C	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	538					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTTTCCAGGCGTGACGCCTG	0.527													T	36029369	C	T	36029369	3	4	8	1	0	0	0	0	1	0	0	0	10214	782	27	1	1634	1	NCDN	1	36029369	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	695085	36029369	213221252	35	7057											
C1orf216	127703	broad.mit.edu	37	chr1	36181448	36181448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctcctgctctttgtagcGctcctggacttgtaagtgct	9	12	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:36181448G>A	uc001bzh.1	-	2	963	c.475C>T	c.(475-477)CGC>TGC	p.R159C		NM_152374	NP_689587	Q8TAB5	CA216_HUMAN	hypothetical protein LOC127703	159										skin(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TCTTTGTAGCGCTCCTGGACT	0.627											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	36181448	G	A	36181448	3	1	8	1	0	0	0	0	1	0	0	0	2031	1087	38	1	218	1	C1orf216	1	36181448	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	152079	36181448	213069173	36	7058											
ADPRHL2	54936	broad.mit.edu	37	chr1	36558054	36558054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcgtccatactccagcCgcctgaagaagattggagag	13	10	0	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:36558054C>T	uc001bzt.2	+	5	786	c.733C>T	c.(733-735)CGC>TGC	p.R245C	ADPRHL2_uc001bzu.2_Missense_Mutation_p.R91C	NM_017825	NP_060295	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	245						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			pancreas(1)	1		Myeloproliferative disorder(586;0.0393)				ATACTCCAGCCGCCTGAAGAA	0.602													T	36558054	C	T	36558054	3	4	8	1	0	0	0	0	1	0	0	0	333	652	23	1	751	1	ADPRHL2	1	36558054	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	376606	36558054	212692567	37	7059											
MACF1	23499	broad.mit.edu	37	chr1	39823511	39823511	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatcagaaattggaaacttAgtaaaggacaagttgaagga	10	5	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:39823511A>G	uc010oiu.1	+	9	7340	c.7209A>G	c.(7207-7209)TTA>TTG	p.L2403L	MACF1_uc010ois.1_Silent_p.L1901L|MACF1_uc001cda.1_Silent_p.L1809L|MACF1_uc001cdc.1_Silent_p.L988L|MACF1_uc001cdb.1_Silent_p.L988L	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3968					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTGGAAACTTAGTAAAGGACA	0.428													G	39823511	A	G	39823511	2	3	8	1	0	0	0	0	0	0	0	1	9144	417	15	3		3	MACF1	1	39823511	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	3265457	39823511	209427110	38	7060											
HPCAL4	51440	broad.mit.edu	37	chr1	40149806	40149806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgcgcgaacttggaggCgtcgccgtaggggaagaact	17	9	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:40149806C>T	uc001cdr.2	-	3	301	c.181G>A	c.(181-183)GCC>ACC	p.A61T	HPCAL4_uc010oix.1_Intron	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	hippocalcin-like protein 4	61	EF-hand 2.				central nervous system development	intracellular	calcium ion binding			central_nervous_system(1)	1	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AACTTGGAGGCGTCGCCGTAG	0.692													T	40149806	C	T	40149806	3	4	8	1	0	0	0	0	1	0	0	0	7331	768	27	1	402	1	HPCAL4	1	40149806	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	326295	40149806	209100815	39	7061											
SCMH1	22955	broad.mit.edu	37	chr1	41503057	41503057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagcatagcctgcgcacaGctgaggcagtgcttggtggg	17	9	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:41503057G>A	uc001cgo.2	-	13	1936	c.1625C>T	c.(1624-1626)GCT>GTT	p.A542V	SCMH1_uc010ojr.1_Missense_Mutation_p.A384V|SCMH1_uc001cgp.2_Missense_Mutation_p.A481V|SCMH1_uc001cgr.2_Missense_Mutation_p.A481V|SCMH1_uc001cgs.2_Missense_Mutation_p.A552V|SCMH1_uc001cgt.2_Missense_Mutation_p.A481V|SCMH1_uc001cgq.2_Missense_Mutation_p.A495V|SCMH1_uc010ojs.1_RNA	NM_001031694	NP_001026864	Q96GD3	SCMH1_HUMAN	sex comb on midleg 1 isoform 1	542					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CCTGCGCACAGCTGAGGCAGT	0.478													A	41503057	G	A	41503057	3	1	8	1	0	0	0	0	1	0	0	0	13908	971	34	2	373	2	SCMH1	1	41503057	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1353251	41503057	207747564	40	7062											
ZMYND12	84217	broad.mit.edu	37	chr1	42901019	42901019	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcctgtgagaggacttgaTagtgattgttcaaatatgca	12	5	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:42901019T>C	uc001chj.2	-	6	1025	c.755A>G	c.(754-756)TAT>TGT	p.Y252C	ZMYND12_uc010ojt.1_Missense_Mutation_p.Y142C	NM_032257	NP_115633	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12 isoform 1	252						intracellular	zinc ion binding			ovary(1)	1	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGGACTTGATAGTGATTGTT	0.478													C	42901019	T	C	42901019	3	2	8	1	0	0	0	0	1	0	0	0	17704	1406	49	3	354	3	ZMYND12	1	42901019	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	1397962	42901019	206349602	41	7063											
TMEM125	128218	broad.mit.edu	37	chr1	43738712	43738712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaccatgtggccctgctgCgcagtggtggaggggccgac	16	14	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:43738712C>T	uc001cir.2	+	4	889	c.319C>T	c.(319-321)CGC>TGC	p.R107C	EBNA1BP2_uc001cio.2_5'Flank|TMEM125_uc001cis.2_Missense_Mutation_p.R107C	NM_144626	NP_653227	Q96AQ2	TM125_HUMAN	transmembrane protein 125	107			R -> L (in a breast cancer sample; somatic mutation).			integral to membrane		p.R107L(1)		breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCCCTGCTGCGCAGTGGTGG	0.687													T	43738712	C	T	43738712	3	4	8	1	0	0	0	0	1	0	0	0	16034	768	27	1	321	1	TMEM125	1	43738712	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	837693	43738712	205511909	42	7064											
KDM4A	9682	broad.mit.edu	37	chr1	44137442	44137442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaacgggagttctcactGtgcacagttatgccaaaggg	13	9	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:44137442G>A	uc001cjx.2	+	11	1796	c.1630G>A	c.(1630-1632)GTG>ATG	p.V544M	KDM4A_uc010oki.1_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	jumonji domain containing 2A	544					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1						AGTTCTCACTGTGCACAGTTA	0.562													A	44137442	G	A	44137442	3	1	8	1	0	0	0	0	1	0	0	0	8128	1377	48	4	1668	4	KDM4A	1	44137442	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	398730	44137442	205113179	43	7065											
PLK3	1263	broad.mit.edu	37	chr1	45270162	45270162	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcacacatatggccctgtcGgccaacagaaagtaagtgct	11	11	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:45270162G>T	uc001cmn.2	+	12	1594	c.1494G>T	c.(1492-1494)TCG>TCT	p.S498S	PLK3_uc001cmo.2_RNA	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	498	POLO box 1.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity				0	Acute lymphoblastic leukemia(166;0.155)					TGGCCCTGTCGGCCAACAGAA	0.567													T	45270162	G	T	45270162	2	4	8	1	0	0	0	0	0	0	0	1	12097	1103	39	5		5	PLK3	1	45270162	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1132720	45270162	203980459	44	7066											
MUTYH	4595	broad.mit.edu	37	chr1	45799087	45799087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcctcgcctgcctacccGtcttctccatggtaggtccc	8	18	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:45799087G>A	uc001cnm.2	-	3	553	c.337C>T	c.(337-339)CGG>TGG	p.R113W	MUTYH_uc009vxn.2_Intron|MUTYH_uc001cnf.2_Missense_Mutation_p.R88W|MUTYH_uc009vxo.2_Missense_Mutation_p.R88W|MUTYH_uc001cng.2_Missense_Mutation_p.R99W|MUTYH_uc001cnj.2_Translation_Start_Site|MUTYH_uc001cni.2_Missense_Mutation_p.R88W|MUTYH_uc001cnh.2_Missense_Mutation_p.R89W|MUTYH_uc001cno.2_Translation_Start_Site|MUTYH_uc001cnk.2_Translation_Start_Site|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Missense_Mutation_p.R102W|MUTYH_uc009vxp.2_Missense_Mutation_p.R116W|MUTYH_uc001cnn.2_Missense_Mutation_p.R103W	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	mutY homolog isoform 1	113					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding				0	Acute lymphoblastic leukemia(166;0.155)					CTGCCTACCCGTCTTCTCCAT	0.582			Mis			colorectal		BER_DNA_glycosylases	MUTYH-associated_polyposis				A	45799087	G	A	45799087	3	1	8	1	0	0	0	0	1	0	0	0	9993	1144	40	1	1359	1	MUTYH	1	45799087	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	528925	45799087	203451534	45	7067											
RAD54L	8438	broad.mit.edu	37	chr1	46736382	46736382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attgccaattttgaagggtcGagacgctgctgctagtgagg	14	7	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:46736382G>A	uc009vye.2	+	11	1208	c.1094G>A	c.(1093-1095)CGA>CAA	p.R365Q	RAD54L_uc001cpl.2_Missense_Mutation_p.R365Q|RAD54L_uc001cpm.1_Missense_Mutation_p.R185Q	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	365					meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TTGAAGGGTCGAGACGCTGCT	0.468								Direct_reversal_of_damage|Homologous_recombination					A	46736382	G	A	46736382	3	1	8	1	0	0	0	0	1	0	0	0	12993	1058	37	1	1132	1	RAD54L	1	46736382	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	937295	46736382	202514239	46	7068											
STIL	6491	broad.mit.edu	37	chr1	47717309	47717309	+	Frame_Shift_Del	DEL	T	T	-													agtccatatctcttcatataTtttttggttgcaaatgacat							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:47717308_47717308AT>A	uc001crd.1	-	16	3522	c.3367_3367AT>T	c.(3367-3369)tatfs	p.Y1123fs	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Frame_Shift_Del_p.Y1076fs|STIL_uc010omo.1_Frame_Shift_Del_p.Y1105fs|STIL_uc001crc.1_Frame_Shift_Del_p.Y1122fs|STIL_uc001cre.1_Frame_Shift_Del_p.Y1122fs	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	1122					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CTCTTCATATATTTTTTGGTT	0.373													-	47717309	T	-	47717309	7	5	8	1	0	1	0	1	0	0	0	0	15281	1490	52	0	504	0	STIL	1	47717309	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	980927	47717309	201533312	47	7069											
RNF11	26994	broad.mit.edu	37	chr1	51736936	51736936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgatgagatccttcacgtGcccctcctgcatggagccag	11	13	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:51736936G>A	uc001csi.3	+	3	891	c.407G>A	c.(406-408)TGC>TAC	p.C136Y		NM_014372	NP_055187	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	136	RING-type.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding				0						TCCTTCACGTGCCCCTCCTGC	0.473													A	51736936	G	A	51736936	3	1	8	1	0	0	0	0	1	0	0	0	13424	1319	46	2	417	2	RNF11	1	51736936	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4019627	51736936	197513685	48	7070											
NRD1	4898	broad.mit.edu	37	chr1	52266266	52266266	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgaggatgttaaagtaGgtcttcttcaactgctcagt	10	6	4	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:52266266G>T	uc001ctc.3	-	23	2929	c.2607C>A	c.(2605-2607)ACC>ACA	p.T869T	NRD1_uc009vzb.2_Silent_p.T564T|NRD1_uc001ctd.3_Silent_p.T801T|NRD1_uc001cte.2_Silent_p.T737T|NRD1_uc001ctf.2_Silent_p.T801T|NRD1_uc010ong.1_RNA	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	800					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						TGTTAAAGTAGGTCTTCTTCA	0.398													T	52266266	G	T	52266266	2	4	8	1	0	0	0	0	0	0	0	1	10645	987	35	5		5	NRD1	1	52266266	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	529330	52266266	196984355	49	7071											
MRPL37	51253	broad.mit.edu	37	chr1	54666207	54666207	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccctcttcacgagcatccGctgtacaaagaccaggcctg	8	17	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:54666207G>A	uc001cxa.3	+	1	368	c.291G>A	c.(289-291)CCG>CCA	p.P97P	CYB5RL_uc009vzo.2_5'Flank|CYB5RL_uc001cwx.3_5'Flank|CYB5RL_uc001cwy.3_5'Flank|MRPL37_uc009vzp.2_Missense_Mutation_p.R67H|MRPL37_uc001cxb.1_Silent_p.P97P|MRPL37_uc001cxc.3_Intron|MRPL37_uc010oob.1_RNA	NM_016491	NP_057575	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37 precursor	97					translation	mitochondrial ribosome	structural constituent of ribosome				0						ACGAGCATCCGCTGTACAAAG	0.527													A	54666207	G	A	54666207	2	1	8	1	0	0	0	0	0	0	0	1	9800	1074	38	1		1	MRPL37	1	54666207	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2399941	54666207	194584414	50	7072											
DAB1	1600	broad.mit.edu	37	chr1	57610998	57610998	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaatcttgacataacttgtCtccccgagctgcggaaactt	9	11	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:57610998C>T	uc001cys.1	-	5	846	c.172G>A	c.(172-174)GAC>AAC	p.D58N	DAB1_uc001cyt.1_Missense_Mutation_p.D58N|DAB1_uc001cyq.1_Missense_Mutation_p.D58N|DAB1_uc001cyr.1_Missense_Mutation_p.D58N|DAB1_uc009vzw.1_Missense_Mutation_p.D58N|DAB1_uc009vzx.1_Missense_Mutation_p.D58N	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	58	PID.				cell differentiation|nervous system development					skin(2)|ovary(1)	3						CATAACTTGTCTCCCCGAGCT	0.408													T	57610998	C	T	57610998	3	4	8	1	0	0	0	0	1	0	0	0	4217	913	32	4	1543	4	DAB1	1	57610998	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2944791	57610998	191639623	51	7073											
C1orf87	127795	broad.mit.edu	37	chr1	60499273	60499273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaatctccaacagactccTgttcacttctggctgtgagc	7	13	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:60499273T>C	uc001czs.1	-	7	996	c.904A>G	c.(904-906)AGG>GGG	p.R302G		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	hypothetical protein LOC127795	302							calcium ion binding			ovary(1)|breast(1)	2						AACAGACTCCTGTTCACTTCT	0.473													C	60499273	T	C	60499273	3	2	8	1	0	0	0	0	1	0	0	0	2064	1579	55	3	760	3	C1orf87	1	60499273	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	2888275	60499273	188751348	52	7074											
NFIA	4774	broad.mit.edu	37	chr1	61869831	61869831	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgacatcacccattatccaGcagcctgggccttacttctc	6	17	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:61869831G>A	uc001czw.2	+	8	1615	c.1131G>A	c.(1129-1131)CAG>CAA	p.Q377Q	NFIA_uc001czy.2_Silent_p.Q369Q|NFIA_uc010oos.1_Silent_p.Q422Q|NFIA_uc001czv.2_Silent_p.Q377Q|NFIA_uc001czx.2_Silent_p.Q25Q|NFIA_uc009wae.2_5'Flank	NM_001134673	NP_001128145	Q12857	NFIA_HUMAN	nuclear factor I/A isoform 1	377					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)|skin(1)	2						CCATTATCCAGCAGCCTGGGC	0.507													A	61869831	G	A	61869831	2	1	8	1	0	0	0	0	0	0	0	1	10370	962	34	2		2	NFIA	1	61869831	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1370558	61869831	187380790	53	7075											
INADL	10207	broad.mit.edu	37	chr1	62594566	62594566	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttggatgggctgtctcaCgcggatgtggttaatctgct	13	9	2	0	rs113629200		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:62594566C>T	uc001dab.2	+	41	5334	c.5220C>T	c.(5218-5220)CAC>CAT	p.H1740H	INADL_uc001dac.2_RNA|INADL_uc009wag.2_Silent_p.H524H	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1740	PDZ 10.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						GGCTGTCTCACGCGGATGTGG	0.468													T	62594566	C	T	62594566	2	4	8	1	0	0	0	0	0	0	0	1	7731	535	19	1		1	INADL	1	62594566	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	724735	62594566	186656055	54	7076											
JAK1	3716	broad.mit.edu	37	chr1	65323363	65323363	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttctcaaagcaggtgacGgtcatgaggatgttgtcaaa	12	7	3	2	rs55788790		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:65323363G>A	uc001dbu.1	-	10	1683	c.1434C>T	c.(1432-1434)ACC>ACT	p.T478T	JAK1_uc009wam.1_Silent_p.T466T	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	478	SH2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.T478S(1)|p.T478T(1)		haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		AGCAGGTGACGGTCATGAGGA	0.542			Mis		ALL								A	65323363	G	A	65323363	2	1	8	1	0	0	0	0	0	0	0	1	7937	1103	39	1		1	JAK1	1	65323363	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2728797	65323363	183927258	55	7077											
DEPDC1	55635	broad.mit.edu	37	chr1	68960310	68960310	+	Frame_Shift_Del	DEL	T	T	-													gctgtgaaacaattgccataTtttttaaagtgttgtctgtg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:68960309_68960309AT>A	uc001dem.4	-	1	235	c.118_118AT>T	c.(118-120)tatfs	p.Y40fs	DEPDC1_uc001dek.4_Non-coding_Transcript|DEPDC1_uc001del.4_Frame_Shift_Del_p.Y40fs|BC020917_uc001den.3_5'Flank	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	Homo sapiens DEP domain containing 1 (DEPDC1), transcript variant 1, mRNA.	40	DEP.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CAATTGCCATATTTTTTAAAG	0.338													-	68960310	T	-	68960310	7	5	8	1	0	1	0	1	0	0	0	0	4439	1490	52	0	2362	0	DEPDC1	1	68960310	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	3636947	68960310	180290311	56	7078											
NEXN	91624	broad.mit.edu	37	chr1	78392424	78392425	+	Frame_Shift_Ins	INS	-	-	A													atgaaatagaaagtgaagcaINSaaaaaagaatcactttctcc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:78392423_78392424C>CA	uc001dic.4	+	7	1007_1008	c.710_711C>CA	c.(709-711)gcafs	p.A237fs	NEXN_uc001dia.3_Frame_Shift_Ins_p.A223fs|NEXN_uc009wcb.1_Frame_Shift_Ins_p.A159fs|NEXN_uc001dib.4_Frame_Shift_Ins_p.A173fs|NEXN_uc001did.1_Frame_Shift_Ins_p.A147fs|NEXN_uc001dif.1_Frame_Shift_Ins_p.A129fs	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	237	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAAAGTGAAGCAAAAAAAGAAT	0.356													A	78392425	-	A	78392424	7	5	8	1	0	1	1	0	0	0	0	0	10355	117	5	0	737	0	NEXN	1	78392424	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	9432114	78392424	170858197	57	7079											
SYDE2	84144	broad.mit.edu	37	chr1	85656333	85656333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattgcgtttctttgaaacaGtgatgctgttaagtggctta	10	5	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:85656333G>A	uc009wcm.2	-	2	897	c.848C>T	c.(847-849)ACT>ATT	p.T283I	SYDE2_uc001dku.3_Missense_Mutation_p.T283I	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2	283					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|central_nervous_system(1)	2				all cancers(265;0.0126)|Epithelial(280;0.0336)		CTTTGAAACAGTGATGCTGTT	0.368													A	85656333	G	A	85656333	3	1	8	1	0	0	0	0	1	0	0	0	15433	1029	36	4	2760	4	SYDE2	1	85656333	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	7263909	85656333	163594288	58	7080											
CLCA2	9635	broad.mit.edu	37	chr1	86905964	86905964	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattcactccattgccctggGttcatctgcagccccaaatc	6	15	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:86905964G>T	uc001dlr.3	+	8	1499	c.1337G>T	c.(1336-1338)GGT>GTT	p.G446V		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	446	VWFA.|Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)|skin(1)	3		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ATTGCCCTGGGTTCATCTGCA	0.423													T	86905964	G	T	86905964	3	4	8	1	0	0	0	0	1	0	0	0	3458	1261	44	5	1367	5	CLCA2	1	86905964	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1249631	86905964	162344657	59	7081											
GBP1	2633	broad.mit.edu	37	chr1	89520420	89520420	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaactggaccctgtcgTtctccatcttctcagtcagt	7	14	5	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:89520420T>C	uc001dmx.2	-	10	1830	c.1610A>G	c.(1609-1611)AAC>AGC	p.N537S		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	537					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GACCCTGTCGTTCTCCATCTT	0.423													C	89520420	T	C	89520420	3	2	8	1	0	0	0	0	1	0	0	0	6273	1725	60	3	176	3	GBP1	1	89520420	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	2614456	89520420	159730201	60	7082											
GBP1	2633	broad.mit.edu	37	chr1	89521715	89521715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctgtatccccttcctcGgttcctcatagtactttttc	4	14	1	0	rs142020556		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:89521715G>A	uc001dmx.2	-	8	1572	c.1352C>T	c.(1351-1353)CCG>CTG	p.P451L		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	451					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CCCCTTCCTCGGTTCCTCATA	0.448													A	89521715	G	A	89521715	3	1	8	1	0	0	0	0	1	0	0	0	6273	1116	39	1	442	1	GBP1	1	89521715	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1295	89521715	159728906	61	7083											
GBP7	388646	broad.mit.edu	37	chr1	89613322	89613323	+	Frame_Shift_Ins	INS	-	-	C													cttctaagtagatattgtgcINSccccccggaacaaagaaagt					rs138127555		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:89613321_89613322G>GC	uc001dna.2	-	7	1432_1433	c.1293_1294C>GC	c.(1291-1296)gggcacfs	p.G431fs	GBP2_uc001dmy.1_Non-coding_Transcript	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	431						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436													C	89613323	-	C	89613322	7	5	8	1	0	1	1	0	0	0	0	0	6279	726	26	0	639	0	GBP7	1	89613322	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	91607	89613322	159637299	62	7084											
FNBP1L	54874	broad.mit.edu	37	chr1	93987691	93987691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccaaagatgaagagccaCggtaaattacatacctgttc	7	10	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:93987691C>T	uc001dpw.2	+	3	193	c.193C>T	c.(193-195)CGG>TGG	p.R65W	FNBP1L_uc001dpv.2_Missense_Mutation_p.R65W	NM_001024948	NP_001020119	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like isoform 1	65	FCH.|Induction of membrane tubulation (By similarity).				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding				0		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TGAAGAGCCACGGTAAATTAC	0.204													T	93987691	C	T	93987691	3	4	8	1	0	0	0	0	1	0	0	0	5966	550	19	1	203	1	FNBP1L	1	93987691	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	4374369	93987691	155262930	63	7085											
ARHGAP29	9411	broad.mit.edu	37	chr1	94639435	94639435	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgacatccctacacaaatTgtggaatttcaccttcgagg	7	10	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:94639435T>C	uc001dqj.3	-	23	4145	c.3776A>G	c.(3775-3777)CAA>CGA	p.Q1259R	ARHGAP29_uc009wdq.1_Intron	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	1259	Interaction with PTPN13/PTPL1.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CTACACAAATTGTGGAATTTC	0.408													C	94639435	T	C	94639435	3	2	8	1	0	0	0	0	1	0	0	0	878	1812	63	3	13	3	ARHGAP29	1	94639435	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	651744	94639435	154611186	64	7086											
ABCD3	5825	broad.mit.edu	37	chr1	94955520	94955520	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaatcattattgcagaTaacattataaagtacgtaca	7	5	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:94955520T>C	uc001dqn.3	+	15	1413	c.1311T>C	c.(1309-1311)GAT>GAC	p.D437D	ABCD3_uc010oto.1_Silent_p.D461D|ABCD3_uc010otp.1_Silent_p.D364D|ABCD3_uc009wdr.2_Silent_p.D327D|ABCD3_uc001dqo.3_Silent_p.D125D	NM_002858	NP_002849	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D, member 3	437					peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(1)	1		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTATTGCAGATAACATTATAA	0.318													C	94955520	T	C	94955520	2	2	8	1	0	0	0	0	0	0	0	1	62	1403	49	3		3	ABCD3	1	94955520	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	316085	94955520	154295101	65	7087											
EXTL2	2135	broad.mit.edu	37	chr1	101339853	101339853	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tattgaagaatgaggctccaAtcagcaccatagagtactgg	10	8	1	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:101339853A>T	uc001dtk.1	-	5	975	c.638T>A	c.(637-639)ATT>AAT	p.I213N	EXTL2_uc001dtl.1_Missense_Mutation_p.I213N|EXTL2_uc010ouk.1_Missense_Mutation_p.I200N|EXTL2_uc001dtm.1_Missense_Mutation_p.I212N	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN	exostoses-like 2	213	Lumenal (Potential).				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			skin(1)	1		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TGAGGCTCCAATCAGCACCAT	0.403													T	101339853	A	T	101339853	3	4	8	1	0	0	0	0	1	0	0	0	5326	101	4	5	358	5	EXTL2	1	101339853	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	6384333	101339853	147910768	66	7088											
COL11A1	1301	broad.mit.edu	37	chr1	103345444	103345444	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcatttgcaccatattgatgGaatttccttcaacatctaag	5	9	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:103345444G>T	uc001dul.2	-	66	5387	c.5069C>A	c.(5068-5070)TCC>TAC	p.S1690Y	COL11A1_uc001duk.2_Missense_Mutation_p.S886Y|COL11A1_uc001dum.2_Missense_Mutation_p.S1702Y|COL11A1_uc001dun.2_Missense_Mutation_p.S1651Y|COL11A1_uc009weh.2_Missense_Mutation_p.S1574Y	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1690	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CATATTGATGGAATTTCCTTC	0.383													T	103345444	G	T	103345444	3	4	8	1	0	0	0	0	1	0	0	0	3667	1174	41	5	359	5	COL11A1	1	103345444	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2005591	103345444	145905177	67	7089											
AMY2B	280	broad.mit.edu	37	chr1	104122059	104122059	+	Frame_Shift_Del	DEL	T	T	-													tctgacgatggcaaagctcaTttttctattagtaactctgc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:104122058_104122058AT>A	uc010ouo.2	+	21	3176	c.1472_1472AT>A	c.(1471-1473)catfs	p.H491fs	AMY2B_uc001duq.3_Frame_Shift_Del_p.H491fs|AMY2B_uc001dur.3_Frame_Shift_Del_p.H491fs|AMY2B_uc001dus.1_Intron	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	491					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GGCAAAGCTCATTTTTCTATT	0.338													-	104122059	T	-	104122059	7	5	8	1	0	1	0	1	0	0	0	0	595	1490	52	0	1511	0	AMY2B	1	104122059	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	776615	104122059	145128562	68	7090											
VAV3	10451	broad.mit.edu	37	chr1	108507464	108507464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccttgcaatggatgagccActgcgcgcactgcttccacg	10	15	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:108507464A>G	uc001dvk.1	-	1	82	c.28T>C	c.(28-30)TGG>CGG	p.W10R	VAV3_uc010ouw.1_Missense_Mutation_p.W10R|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Missense_Mutation_p.W10R	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	10	CH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TGGATGAGCCACTGCGCGCAC	0.627													G	108507464	A	G	108507464	3	3	8	1	0	0	0	0	1	0	0	0	17130	159	6	3	2648	3	VAV3	1	108507464	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	4385405	108507464	140743157	69	7091											
FNDC7	163479	broad.mit.edu	37	chr1	109276020	109276020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctccaaaggcattttcaCgtgcaccccgagtgctggcc	11	14	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:109276020C>T	uc001dvx.2	+	10	2006	c.2006C>T	c.(2005-2007)ACG>ATG	p.T669M	FNDC7_uc010ova.1_Missense_Mutation_p.T436M	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	670	Fibronectin type-III 8.					extracellular region				ovary(1)|skin(1)	2		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GGCATTTTCACGTGCACCCCG	0.517													T	109276020	C	T	109276020	3	4	8	1	0	0	0	0	1	0	0	0	5973	536	19	1	2044	1	FNDC7	1	109276020	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	768556	109276020	139974601	70	7092											
SARS	6301	broad.mit.edu	37	chr1	109766656	109766657	+	Frame_Shift_Del	DEL	GG	GG	-													acctatgcagcaagacaatcGgagagaaaatgaaggtaaga					rs138598293		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:109766655_109766656CGG>C	uc001dwu.2	+	1	292_293	c.192_193CGG>C	c.(190-195)atcggafs	p.I64fs		NM_006513	NP_006504	P49591	SYSC_HUMAN	Homo sapiens seryl-tRNA synthetase (SARS), transcript variant 1, mRNA.	64					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|RNA binding|protein binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GCAAGACAATCGGAGAGAAAAT	0.386													-	109766657	GG	-	109766656	7	5	8	1	0	1	0	1	0	0	0	0	13844	1117	39	0	199	0	SARS	1	109766656	Frame_Shift_Del	DEL	GG	TCGA-BR-4201-01A-01D-1126-08	490636	109766656	139483965	71	7093											
RBM15	64783	broad.mit.edu	37	chr1	110884339	110884339	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccccgtcccagaaacaggAtggggggacagcccctgtgg	15	13	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:110884339A>G	uc001dzl.1	+	1	2395	c.2312A>G	c.(2311-2313)GAT>GGT	p.D771G	RBM15_uc001dzm.1_Missense_Mutation_p.D771G|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	771					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGAAACAGGATGGGGGGACA	0.547			T	MKL1	acute megakaryocytic leukemia								G	110884339	A	G	110884339	3	3	8	1	0	0	0	0	1	0	0	0	13116	333	12	3	2314	3	RBM15	1	110884339	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1117683	110884339	138366282	72	7094											
DCLRE1B	64858	broad.mit.edu	37	chr1	114454678	114454678	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccctgtcccacagcagcaaGggcacccctcttctagctac	7	19	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:114454678G>T	uc001eeg.2	+	4	1635	c.1464G>T	c.(1462-1464)AAG>AAT	p.K488N	DCLRE1B_uc001eeh.2_Intron|DCLRE1B_uc001eei.2_Missense_Mutation_p.K362N	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B (PSO2 homolog, S.	488					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding				0	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGCAAGGGCACCCCTC	0.532								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					T	114454678	G	T	114454678	3	4	8	1	0	0	0	0	1	0	0	0	4295	991	35	5	1478	5	DCLRE1B	1	114454678	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3570339	114454678	134795943	73	7095											
AMPD1	270	broad.mit.edu	37	chr1	115231320	115231320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatctttgacttcagagGcaaacactttttcagcaaag	6	10	4	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:115231320G>A	uc001efe.1	-	3	161	c.77C>T	c.(76-78)GCC>GTC	p.A26V	AMPD1_uc001eff.1_Missense_Mutation_p.A22V	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	26					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GACTTCAGAGGCAAACACTTT	0.413													A	115231320	G	A	115231320	3	1	8	1	0	0	0	0	1	0	0	0	585	1203	42	2	2222	2	AMPD1	1	115231320	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	776642	115231320	134019301	74	7096											
IGSF3	3321	broad.mit.edu	37	chr1	117156651	117156651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgacctccacgggcttctCgccaactttctgccggagcc	10	16	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:117156651C>T	uc001egr.1	-	4	1273	c.568G>A	c.(568-570)GAG>AAG	p.E190K	IGSF3_uc001egq.1_Missense_Mutation_p.E190K	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	190	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ACGGGCTTCTCGCCAACTTTC	0.612													T	117156651	C	T	117156651	3	4	8	1	0	0	0	0	1	0	0	0	7601	893	31	1	3112	1	IGSF3	1	117156651	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1925331	117156651	132093970	75	7097											
VTCN1	79679	broad.mit.edu	37	chr1	117699263	117699263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatataacatttgtaggtGccagcatctgtgagttgcac	10	7	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:117699263G>A	uc001ehb.2	-	3	450	c.378C>T	c.(376-378)GGC>GGT	p.G126G	VTCN1_uc001ehc.2_Silent_p.G31G|VTCN1_uc009whf.1_Intron	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation	126	Ig-like V-type 1.|Extracellular (Potential).					integral to membrane|plasma membrane					0	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		ATTTGTAGGTGCCAGCATCTG	0.428													A	117699263	G	A	117699263	2	1	8	1	0	0	0	0	0	0	0	1	17231	1306	46	2		2	VTCN1	1	117699263	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	542612	117699263	131551358	76	7098											
GDAP2	54834	broad.mit.edu	37	chr1	118455168	118455168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atactttgctagttgaagtaCgtttctgtagcagctataaa	8	6	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:118455168C>T	uc001ehf.2	-	4	753	c.454G>A	c.(454-456)GTA>ATA	p.V152I	GDAP2_uc001ehg.2_Missense_Mutation_p.V152I	NM_017686	NP_060156	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated	152	Macro.									ovary(2)	2		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		AGTTGAAGTACGTTTCTGTAG	0.413													T	118455168	C	T	118455168	3	4	8	1	0	0	0	0	1	0	0	0	6309	536	19	1	1128	1	GDAP2	1	118455168	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	755905	118455168	130795453	77	7099											
GDAP2	54834	broad.mit.edu	37	chr1	118461278	118461278	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caagcatgaagatactttctGacacaggattcttatctgtg	8	8	3	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:118461278G>A	uc001ehf.2	-	3	556	c.257C>T	c.(256-258)TCA>TTA	p.S86L	GDAP2_uc001ehg.2_Missense_Mutation_p.S86L	NM_017686	NP_060156	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated	86	Macro.									ovary(2)	2		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GATACTTTCTGACACAGGATT	0.363													A	118461278	G	A	118461278	3	1	8	1	0	0	0	0	1	0	0	0	6309	1294	45	4	1329	4	GDAP2	1	118461278	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	6110	118461278	130789343	78	7100											
HSD3B1	3283	broad.mit.edu	37	chr1	120056669	120056669	+	Frame_Shift_Del	DEL	A	A	-													cggctaacgggtggaatctgAaaaacggcggcaccctgtac							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:120056668_120056668GA>G	uc001ehv.1	+	3	667	c.522_522GA>G	c.(520-522)ctgfs	p.L174fs		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	174					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	GGTGGAATCTGAAAAACGGCG	0.517													-	120056669	A	-	120056669	7	5	8	1	0	1	0	1	0	0	0	0	7390	247	9	0	533	0	HSD3B1	1	120056669	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	1595391	120056669	129193952	79	7101											
ADAM30	11085	broad.mit.edu	37	chr1	120437095	120437095	+	Frame_Shift_Del	DEL	T	T	-													ggactgagctattgacgcaaTtttttttaaaacatacccgg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:120437094_120437094AT>A	uc001eij.3	-	0	2054	c.1866_1866AT>T	c.(1864-1866)aatfs	p.N622fs		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	622	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TATTGACGCAATTTTTTTTAA	0.448													-	120437095	T	-	120437095	7	5	8	1	0	1	0	1	0	0	0	0	248	1493	52	0	511	0	ADAM30	1	120437095	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	380426	120437095	128813526	80	7102											
ADAM30	11085	broad.mit.edu	37	chr1	120438783	120438783	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtaggtaggacacgggactGaccacaccctgcacctctcc	10	15	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:120438783G>A	uc001eij.2	-	1	331	c.177C>T	c.(175-177)GTC>GTT	p.V59V		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	59					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ACACGGGACTGACCACACCCT	0.522													A	120438783	G	A	120438783	2	1	8	1	0	0	0	0	0	0	0	1	248	1277	45	4		4	ADAM30	1	120438783	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1688	120438783	128811838	81	7103											
NOTCH2	4853	broad.mit.edu	37	chr1	120458005	120458005	+	Frame_Shift_Del	DEL	C	C	-													cccgctgacctcctccagcaCccccaggggtagggctggtg					rs6685892	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:120458004_120458004AC>A	uc001eik.3	-	33	7638	c.7341_7341GT>T	c.(7339-7341)ggtfs	p.G2447fs		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	2447					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCCTCCAGCACCCCCAGGGG	0.577			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				-	120458005	C	-	120458005	7	5	8	1	0	1	0	1	0	0	0	0	10548	507	18	0	79	0	NOTCH2	1	120458005	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	19222	120458005	128792616	82	7104											
PDE4DIP	9659	broad.mit.edu	37	chr1	144865839	144865839	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgactcagttgagcctgaAgtcttcgattgtcttccctg	9	11	3	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:144865839A>G	uc001elw.3	-	35	6032	c.5741T>C	c.(5740-5742)CTT>CCT	p.L1914P	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.L1808P|PDE4DIP_uc001elv.3_Missense_Mutation_p.L921P|PDE4DIP_uc001ema.2_Missense_Mutation_p.L101P	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1914	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTGAGCCTGAAGTCTTCGATT	0.483			T	PDGFRB	MPD								G	144865839	A	G	144865839	3	3	8	1	0	0	0	0	1	0	0	0	11643	72	3	3	1339	3	PDE4DIP	1	144865839	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	24407834	144865839	104384782	83	7105											
BCL9	607	broad.mit.edu	37	chr1	147096003	147096003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgggtttcccaggagaagGcccccttggccgccccagca	13	15	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:147096003G>A	uc001epq.2	+	10	4264	c.3524G>A	c.(3523-3525)GGC>GAC	p.G1175D	BCL9_uc010ozr.1_Missense_Mutation_p.G1089D	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1175	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					CCAGGAGAAGGCCCCCTTGGC	0.647			T	IGH@|IGL@	B-ALL								A	147096003	G	A	147096003	3	1	8	1	0	0	0	0	1	0	0	0	1381	1203	42	2	3550	2	BCL9	1	147096003	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2230164	147096003	102154618	84	7106											
SV2A	9900	broad.mit.edu	37	chr1	149884988	149884988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcgttgtgcctccccccgGcccccagggggaccctcccc	11	22	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:149884988G>A	uc001etg.2	-	2	896	c.405C>T	c.(403-405)GGC>GGT	p.G135G	SV2A_uc001eth.2_Silent_p.G135G	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	135	Cytoplasmic (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CCTCCCCCCGGCCCCCAGGGG	0.662													A	149884988	G	A	149884988	2	1	8	1	0	0	0	0	0	0	0	1	15414	1190	42	2		2	SV2A	1	149884988	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2788985	149884988	99365633	85	7107											
SF3B4	10262	broad.mit.edu	37	chr1	149898338	149898338	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagggtggaggaggtgcatcTgcaaacagctgatgagggcg	19	6	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:149898338T>C	uc001etj.1	-	3	687	c.636A>G	c.(634-636)GCA>GCG	p.A212A	SF3B4_uc001eti.1_5'Flank|SF3B4_uc001etk.1_Silent_p.A212A|SF3B4_uc009wll.1_Silent_p.A212A	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4	212						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GAGGTGCATCTGCAAACAGCT	0.547													C	149898338	T	C	149898338	2	2	8	1	0	0	0	0	0	0	0	1	14153	1567	55	3		3	SF3B4	1	149898338	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	13350	149898338	99352283	86	7108											
SETDB1	9869	broad.mit.edu	37	chr1	150933159	150933159	+	Frame_Shift_Del	DEL	C	C	-													agaaggatatgagagtgatgCcccctgttcctctgacagca							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:150933158_150933158GC>G	uc001evu.2	+	15	2810	c.2620_2620GC>G	c.(2620-2622)gccfs	p.A874fs	SETDB1_uc001evv.2_Frame_Shift_Del_p.A874fs|SETDB1_uc009wmg.2_Frame_Shift_Del_p.A874fs	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	874	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|chromosome|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGAGAGTGATGCCCCCTGTTC	0.493													-	150933159	C	-	150933159	7	5	8	1	0	1	0	1	0	0	0	0	14138	739	26	0	2679	0	SETDB1	1	150933159	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	1034821	150933159	98317462	87	7109											
ANXA9	8416	broad.mit.edu	37	chr1	150958865	150958865	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagaccagtggcatcttgCaggacctgctgttggccctg	13	12	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:150958865C>T	uc001ewa.2	+	8	996	c.526C>T	c.(526-528)CAG>TAG	p.Q176*		NM_003568	NP_003559	O76027	ANXA9_HUMAN	annexin A9	176	Annexin 2.				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity				0	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGCATCTTGCAGGACCTGCT	0.572													T	150958865	C	T	150958865	4	4	8	1	0	0	0	0	0	1	0	0	725	711	25	2	548	2	ANXA9	1	150958865	Nonsense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	25706	150958865	98291756	88	7110											
THEM4	117145	broad.mit.edu	37	chr1	151861728	151861728	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagggcctccttgaaataaGcaaaccatccttttctcaat	5	11	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:151861728G>A	uc001ezj.1	-	3	587	c.408C>T	c.(406-408)TGC>TGT	p.C136C	THEM4_uc001ezk.1_RNA	NM_053055	NP_444283	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	136					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane					0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTTGAAATAAGCAAACCATCC	0.443													A	151861728	G	A	151861728	2	1	8	1	0	0	0	0	0	0	0	1	15855	963	34	2		2	THEM4	1	151861728	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	902863	151861728	97388893	89	7111											
TCHH	7062	broad.mit.edu	37	chr1	152081809	152081809	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctccagctgttcttccTctgggaaatgcctgtcgcgc	10	15	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:152081809T>C	uc001ezp.2	-	2	3884	c.3884A>G	c.(3883-3885)GAG>GGG	p.E1295G	TCHH_uc009wne.1_Missense_Mutation_p.E1295G	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1295	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTTCTTCCTCTGGGAAATG	0.552													C	152081809	T	C	152081809	3	2	8	1	0	0	0	0	1	0	0	0	15697	1551	54	3	1951	3	TCHH	1	152081809	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	220081	152081809	97168812	90	7112											
FLG	2312	broad.mit.edu	37	chr1	152283466	152283466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccatctcttgactgctccCgagaagatccatgatggttt	9	11	1	4	rs150251062	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:152283466C>T	uc001ezu.1	-	3	3932	c.3896G>A	c.(3895-3897)CGG>CAG	p.R1299Q	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1299	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgactgctcccgagaagatcc	0.378									Ichthyosis				T	152283466	C	T	152283466	3	4	8	1	0	0	0	0	1	0	0	0	5922	652	23	1	8293	1	FLG	1	152283466	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	201657	152283466	96967155	91	7113											
S100A14	57402	broad.mit.edu	37	chr1	153588311	153588311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaatgagcccacctctgcGttggctgaccgacactgtcc	11	14	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:153588311G>A	uc001fce.2	-	2	122	c.24C>T	c.(22-24)AAC>AAT	p.N8N	S100A16_uc001fcd.1_5'Flank	NM_020672	NP_065723	Q9HCY8	S10AE_HUMAN	S100 calcium binding protein A14	8					calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway	cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm	calcium ion binding|chemokine receptor binding				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACCTCTGCGTTGGCTGACC	0.577													A	153588311	G	A	153588311	2	1	8	1	0	0	0	0	0	0	0	1	13776	1136	40	1		1	S100A14	1	153588311	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1304845	153588311	95662310	92	7114											
CRTC2	200186	broad.mit.edu	37	chr1	153924897	153924897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagggacttcacaggacCgaggtcgggaagaggatgag	16	8	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:153924897C>T	uc010ped.1	-	9	798	c.728G>A	c.(727-729)CGG>CAG	p.R243Q	CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_5'UTR	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	243					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)	2	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTCACAGGACCGAGGTCGGGA	0.532													T	153924897	C	T	153924897	3	4	8	1	0	0	0	0	1	0	0	0	3900	652	23	1	1377	1	CRTC2	1	153924897	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	336586	153924897	95325724	93	7115											
AQP10	89872	broad.mit.edu	37	chr1	154296925	154296925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagagttggaaactcctgCctcagctcagatgctggagt	11	11	3	2	rs141365858	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:154296925C>T	uc001feu.2	+	6	915	c.875C>T	c.(874-876)GCC>GTC	p.A292V	AQP10_uc001fev.2_3'UTR|ATP8B2_uc001few.2_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	aquaporin 10	292	Extracellular (Potential).				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)	1	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAAACTCCTGCCTCAGCTCAG	0.562											OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	154296925	C	T	154296925	3	4	8	1	0	0	0	0	1	0	0	0	822	739	26	2	897	2	AQP10	1	154296925	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	372028	154296925	94953696	94	7116											
CHRNB2	1141	broad.mit.edu	37	chr1	154544182	154544182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccacctccctcgacgtgCcgctcgtcggcaagtacctc	8	20	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:154544182C>T	uc001ffg.2	+	5	1147	c.883C>T	c.(883-885)CCG>TCG	p.P295S		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	295					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	CCTCGACGTGCCGCTCGTCGG	0.607													T	154544182	C	T	154544182	3	4	8	1	0	0	0	0	1	0	0	0	3391	739	26	2	901	2	CHRNB2	1	154544182	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	247257	154544182	94706439	95	7117											
ZBTB7B	51043	broad.mit.edu	37	chr1	154988858	154988858	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacctgtgccacaaggctttCgccaaggaggaccacctgca	10	15	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:154988858C>T	uc001fgk.3	+	4	1475	c.1317C>T	c.(1315-1317)TTC>TTT	p.F439F	ZBTB7B_uc009wpa.2_Silent_p.F439F|ZBTB7B_uc001fgj.3_Silent_p.F473F|ZBTB7B_uc010peq.1_Silent_p.F473F|ZBTB7B_uc001fgl.3_Silent_p.F439F	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	439	C2H2-type 4; atypical.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	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)			ACAAGGCTTTCGCCAAGGAGG	0.647													T	154988858	C	T	154988858	2	4	8	1	0	0	0	0	0	0	0	1	17551	883	31	1		1	ZBTB7B	1	154988858	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	444676	154988858	94261763	96	7118											
CLK2	1196	broad.mit.edu	37	chr1	155239459	155239459	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcgtctgtagctgccacaGtatcgccggtcatacaccct	9	14	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:155239459G>A	uc001fjy.2	-	3	509	c.219C>T	c.(217-219)TAC>TAT	p.Y73Y	RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Silent_p.Y73Y|CLK2_uc001fjx.2_5'UTR|CLK2_uc009wqm.2_Silent_p.Y73Y	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	73						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGCTGCCACAGTATCGCCGGT	0.488								Other_conserved_DNA_damage_response_genes					A	155239459	G	A	155239459	2	1	8	1	0	0	0	0	0	0	0	1	3537	1024	36	4		4	CLK2	1	155239459	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	250601	155239459	94011162	97	7119											
RUSC1	23623	broad.mit.edu	37	chr1	155292496	155292496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggagccggtgccccaccGgacaatcacgtccttccacg	11	17	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:155292496G>A	uc001fkj.2	+	2	1161	c.932G>A	c.(931-933)CGG>CAG	p.R311Q	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.R311Q|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank|RUSC1_uc001fks.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	311						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GTGCCCCACCGGACAATCACG	0.567													A	155292496	G	A	155292496	3	1	8	1	0	0	0	0	1	0	0	0	13750	1116	39	1	934	1	RUSC1	1	155292496	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	53037	155292496	93958125	98	7120											
GON4L	54856	broad.mit.edu	37	chr1	155722380	155722380	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgctccccactgccaatccTgcttaggaggaaaataagga	10	11	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:155722380T>C	uc001flz.2	-	30	5941	c.5844A>G	c.(5842-5844)GCA>GCG	p.A1948A	GON4L_uc001flx.1_5'Flank|GON4L_uc009wrg.1_Splice_Site|GON4L_uc001fly.1_Splice_Site_p.G1948_splice|GON4L_uc009wrh.1_Splice_Site_p.G1948_splice|GON4L_uc001fma.1_Silent_p.A1948A	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	1948					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGCCAATCCTGCTTAGGAGG	0.502													C	155722380	T	C	155722380	2	2	8	1	0	0	0	0	0	0	0	1	6572	1594	55	3		3	GON4L	1	155722380	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	429884	155722380	93528241	99	7121											
VHLL	391104	broad.mit.edu	37	chr1	156268818	156268818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgattgcagatgatgatccGggagagctcgcgtgagttca	15	7	1	6			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:156268818G>A	uc001fok.2	-	1	611	c.163C>T	c.(163-165)CGG>TGG	p.R55W		NM_001004319	NP_001004319	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	55	Beta-domain.				protein ubiquitination	nucleus				ovary(1)	1	Hepatocellular(266;0.158)					ATGATGATCCGGGAGAGCTCG	0.612													A	156268818	G	A	156268818	3	1	8	1	0	0	0	0	1	0	0	0	17160	1115	39	1	260	1	VHLL	1	156268818	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	546438	156268818	92981803	100	7122											
GPATCH4	54865	broad.mit.edu	37	chr1	156565504	156565504	+	Frame_Shift_Del	DEL	T	T	-													tctgcctccttttctttttcTtttttttggggggcttgctc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:156565503_156565503CT>C	uc001fpm.3	-	7	678	c.630_630AG>G	c.(628-630)aagfs	p.K210fs	APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.3_Frame_Shift_Del_p.K205fs	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	Homo sapiens G patch domain containing 4 (GPATCH4), transcript variant 1, mRNA.	205						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTTCTTTTTCTTTTTTTTGG	0.532													-	156565504	T	-	156565504	7	5	8	1	0	1	0	1	0	0	0	0	6593	1609	56	0	502	0	GPATCH4	1	156565504	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	296686	156565504	92685117	101	7123											
NTRK1	4914	broad.mit.edu	37	chr1	156844776	156844776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgctcaacaaatgtggaCggagaaacaagtttgggatc	12	6	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:156844776C>T	uc001fqh.1	+	11	1386	c.1330C>T	c.(1330-1332)CGG>TGG	p.R444W	NTRK1_uc001fqf.1_Missense_Mutation_p.R408W|NTRK1_uc009wsi.1_Missense_Mutation_p.R143W|NTRK1_uc001fqi.1_Missense_Mutation_p.R438W|NTRK1_uc009wsk.1_Missense_Mutation_p.R438W	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	444	Cytoplasmic (Potential).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CAAATGTGGACGGAGAAACAA	0.567			T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)			T	156844776	C	T	156844776	3	4	8	1	0	0	0	0	1	0	0	0	10706	527	19	1	1502	1	NTRK1	1	156844776	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	279272	156844776	92405845	102	7124											
ARHGEF11	9826	broad.mit.edu	37	chr1	156925516	156925516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttgagaagagcttttggGcttcccaatgtatttgagga	12	6	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:156925516G>A	uc001fqo.2	-	19	2667	c.1627C>T	c.(1627-1629)CCC>TCC	p.P543S	ARHGEF11_uc001fqn.2_Missense_Mutation_p.P583S|ARHGEF11_uc001fqp.1_Missense_Mutation_p.P72S	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	543					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGCTTTTGGGCTTCCCAATG	0.498													A	156925516	G	A	156925516	3	1	8	1	0	0	0	0	1	0	0	0	896	1203	42	2	3029	2	ARHGEF11	1	156925516	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	80740	156925516	92325105	103	7125											
FCRL5	83416	broad.mit.edu	37	chr1	157494244	157494244	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgataaaaccagtacaggatTggggaggagcctctcagggc	14	8	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:157494244T>C	uc001fqu.2	-	10	2222	c.2064A>G	c.(2062-2064)CCA>CCG	p.P688P	FCRL5_uc009wsm.2_Silent_p.P688P|FCRL5_uc010phv.1_Silent_p.P688P|FCRL5_uc010phw.1_Silent_p.P603P	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	688	Extracellular (Potential).|Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGTACAGGATTGGGGAGGAGC	0.577													C	157494244	T	C	157494244	2	2	8	1	0	0	0	0	0	0	0	1	5798	1799	63	3		3	FCRL5	1	157494244	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	568728	157494244	91756377	104	7126											
FCRL3	115352	broad.mit.edu	37	chr1	157665164	157665164	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgtgctgggcccccaggcCattgtctgcatcacaggagt	12	13	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:157665164C>A	uc001frb.2	-	8	1658	c.1366G>T	c.(1366-1368)GGC>TGC	p.G456C	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.G456C|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.G182C|FCRL3_uc001frc.1_Missense_Mutation_p.G456C	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	456	Ig-like C2-type 5.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					GCCCCCAGGCCATTGTCTGCA	0.532													A	157665164	C	A	157665164	3	1	8	1	0	0	0	0	1	0	0	0	5796	594	21	5	870	5	FCRL3	1	157665164	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	170920	157665164	91585457	105	7127											
FCRL3	115352	broad.mit.edu	37	chr1	157666067	157666067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catattttctccttcaatcaGctgccctccggtgggccgga	9	14	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:157666067G>A	uc001frb.2	-	7	1187	c.895C>T	c.(895-897)CTG>TTG	p.L299L	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.L299L|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.L25L|FCRL3_uc001frc.1_Silent_p.L299L	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	299	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					CCTTCAATCAGCTGCCCTCCG	0.517													A	157666067	G	A	157666067	2	1	8	1	0	0	0	0	0	0	0	1	5796	962	34	2		2	FCRL3	1	157666067	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	903	157666067	91584554	106	7128											
OR6K2	81448	broad.mit.edu	37	chr1	158669503	158669503	+	Frame_Shift_Del	DEL	A	A	-													tgaggtccctggtcttacggAaaaaaatatcttagcttgac							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:158669502_158669502GA>G	uc001fsu.1	-	0	941	c.941_941TC>C	c.(940-942)tccfs	p.S314fs		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGGTCTTACGGAAAAAAATAT	0.373													-	158669503	A	-	158669503	7	5	8	1	0	1	0	1	0	0	0	0	11202	246	9	0	38	0	OR6K2	1	158669503	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	1003436	158669503	90581118	107	7129											
ATP1A2	477	broad.mit.edu	37	chr1	160094924	160094924	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgcactccttcctcctcAggtggataactcatccttaa	5	14	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:160094924A>G	uc001fvc.2	+	7	763	c.631_splice	c.e7-2	p.V211_splice	ATP1A2_uc001fvb.2_Splice_Site_p.V211_splice|ATP1A2_uc010piz.1_Splice_Site_p.V56_splice|ATP1A2_uc001fvd.2_5'Flank	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein						ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTTCCTCCTCAGGTGGATAAC	0.542													G	160094924	A	G	160094924	5	3	8	1	0	0	0	0	0	0	1	0	1129	202	7	3	655	3	ATP1A2	1	160094924	Splice_Site	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1425421	160094924	89155697	108	7130											
ATP1A4	480	broad.mit.edu	37	chr1	160156152	160156152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcctcatccgtcagcaccCggatggtgaggctcccctgg	11	16	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:160156152C>T	uc001fve.3	+	21	3535	c.3056C>T	c.(3055-3057)CCG>CTG	p.P1019L	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.P522L|ATP1A4_uc001fvh.2_Missense_Mutation_p.P155L	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	1019	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGTCAGCACCCGGATGGTGAG	0.562													T	160156152	C	T	160156152	3	4	8	1	0	0	0	0	1	0	0	0	1131	652	23	1	3138	1	ATP1A4	1	160156152	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	61228	160156152	89094469	109	7131											
SLAMF6	114836	broad.mit.edu	37	chr1	160465878	160465878	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcagagtgtaactggacaGctttgcagaggtctttgtgg	13	8	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:160465878G>T	uc001fwe.1	-	2	415	c.355C>A	c.(355-357)CTG>ATG	p.L119M	SLAMF6_uc001fwd.1_Missense_Mutation_p.L119M|SLAMF6_uc010pjh.1_Missense_Mutation_p.L70M|SLAMF6_uc010pji.1_Intron|SLAMF6_uc010pjj.1_Intron|SLAMF6_uc009wtm.1_Missense_Mutation_p.L70M	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	activating NK receptor precursor	119	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TAACTGGACAGCTTTGCAGAG	0.418													T	160465878	G	T	160465878	3	4	8	1	0	0	0	0	1	0	0	0	14368	962	34	5	671	5	SLAMF6	1	160465878	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	309726	160465878	88784743	110	7132											
NDUFS2	4720	broad.mit.edu	37	chr1	161183198	161183198	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcactgattcatcactTtaagttgtatactgagggct	10	7	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:161183198T>G	uc001fyv.2	+	12	1593	c.1145T>G	c.(1144-1146)TTT>TGT	p.F382C	NDUFS2_uc001fyw.2_Missense_Mutation_p.F382C|NDUFS2_uc010pkj.1_Missense_Mutation_p.F331C|NDUFS2_uc001fyx.2_Missense_Mutation_p.F356C|FCER1G_uc001fyz.1_5'Flank|FCER1G_uc001fza.1_5'Flank	NM_004550	NP_004541	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2	382					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			skin(1)	1	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	ATTCATCACTTTAAGTTGTAT	0.483													G	161183198	T	G	161183198	3	3	8	1	0	0	0	0	1	0	0	0	10292	1841	64	5	1187	5	NDUFS2	1	161183198	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	717320	161183198	88067423	111	7133											
GPR161	23432	broad.mit.edu	37	chr1	168054869	168054869	+	Frame_Shift_Del	DEL	C	C	-													ctcggcggcccccgaagccgCcccccgggacagtccgtgct							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:168054868_168054868GC>G	uc010pln.2	-	6	2085	c.1551_1551GC>C	c.(1549-1551)ggcfs	p.G517fs	GPR161_uc001gfb.3_Frame_Shift_Del_p.G365fs|GPR161_uc001gfc.3_Frame_Shift_Del_p.G497fs|GPR161_uc010pll.2_Frame_Shift_Del_p.G407fs|GPR161_uc010plm.2_Frame_Shift_Del_p.G383fs|GPR161_uc009wvo.3_Frame_Shift_Del_p.G514fs|GPR161_uc001gfd.3_Frame_Shift_Del_p.G497fs	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	497					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCCCGAAGCCGCCCCCCGGGA	0.582													-	168054869	C	-	168054869	7	5	8	1	0	1	0	1	0	0	0	0	6665	739	26	0	103	0	GPR161	1	168054869	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	6871671	168054869	81195752	112	7134											
FMO3	2328	broad.mit.edu	37	chr1	171076863	171076863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgattttgcaactactggCcagtgggatgttaccactga	10	10	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:171076863C>T	uc001ghi.2	+	4	480	c.369C>T	c.(367-369)GGC>GGT	p.G123G	FMO3_uc001ghh.2_Silent_p.G123G|FMO3_uc010pmb.1_Silent_p.G103G|FMO3_uc010pmc.1_Silent_p.G60G	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	123					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAACTACTGGCCAGTGGGATG	0.393													T	171076863	C	T	171076863	2	4	8	1	0	0	0	0	0	0	0	1	5956	726	26	2		2	FMO3	1	171076863	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	3021994	171076863	78173758	113	7135											
RC3H1	149041	broad.mit.edu	37	chr1	173930312	173930312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgggccattatttcctttCgtcggcgatgtagttcatct	10	10	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:173930312C>T	uc001gju.3	-	12	2360	c.2273G>A	c.(2272-2274)CGA>CAA	p.R758Q	RC3H1_uc010pms.1_Missense_Mutation_p.R758Q|RC3H1_uc001gjv.2_Missense_Mutation_p.R758Q|RC3H1_uc010pmt.1_Missense_Mutation_p.R758Q	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	758	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TATTTCCTTTCGTCGGCGATG	0.453													T	173930312	C	T	173930312	3	4	8	1	0	0	0	0	1	0	0	0	13166	884	31	1	1160	1	RC3H1	1	173930312	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2853449	173930312	75320309	114	7136											
GPR52	9293	broad.mit.edu	37	chr1	174417414	174417414	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgacatttctgatcatTgctgggaatctaacagttat	8	7	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:174417414T>C	uc001gka.1	+	1	203	c.165T>C	c.(163-165)ATT>ATC	p.I55I	RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	55	Helical; Name=1; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1						TTCTGATCATTGCTGGGAATC	0.438													C	174417414	T	C	174417414	2	2	8	1	0	0	0	0	0	0	0	1	6698	1800	63	3		3	GPR52	1	174417414	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	487102	174417414	74833207	115	7137											
PAPPA2	60676	broad.mit.edu	37	chr1	176671867	176671867	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgtggagatgggaaggtgTcagagtgagtattttgtgtg	17	1	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:176671867T>C	uc001gkz.2	+	9	4525	c.3361T>C	c.(3361-3363)TCA>CCA	p.S1121P	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1121					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						TGGGAAGGTGTCAGAGTGAGT	0.318													C	176671867	T	C	176671867	3	2	8	1	0	0	0	0	1	0	0	0	11433	1667	58	3	3444	3	PAPPA2	1	176671867	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	2254453	176671867	72578754	116	7138											
FAM163A	148753	broad.mit.edu	37	chr1	179783166	179783166	+	Frame_Shift_Del	DEL	G	G	-													cggctgacatggtgcccaatGggggtggaggcgagaggctc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:179783165_179783165TG>T	uc009wxj.3	+	5	804	c.345_345TG>T	c.(343-345)aatfs	p.N115fs	FAM163A_uc001gnj.3_Frame_Shift_Del_p.N115fs|FAM163A_uc009wxk.3_Frame_Shift_Del_p.N115fs	NM_173509	NP_775780	Q96GL9	F163A_HUMAN	Homo sapiens family with sequence similarity 163, member A (FAM163A), mRNA.	115						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						TGGTGCCCAATGGGGGTGGAG	0.622													-	179783166	G	-	179783166	7	5	8	1	0	1	0	1	0	0	0	0	5476	1348	47	0	352	0	FAM163A	1	179783166	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	3111299	179783166	69467455	117	7139											
LHX4	89884	broad.mit.edu	37	chr1	180235536	180235536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccctgacaggcgcttcggCacaaaatgcacggcctgcca	11	15	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:180235536C>T	uc001goe.1	+	3	481	c.258C>T	c.(256-258)GGC>GGT	p.G86G		NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	86	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						GGCGCTTCGGCACAAAATGCA	0.607													T	180235536	C	T	180235536	2	4	8	1	0	0	0	0	0	0	0	1	8773	697	25	2		2	LHX4	1	180235536	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	452370	180235536	69015085	118	7140											
CACNA1E	777	broad.mit.edu	37	chr1	181706764	181706764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggcggcagaggaccccGtcctgaccaactcggagcgc	13	17	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:181706764G>A	uc001gow.2	+	23	3691	c.3526G>A	c.(3526-3528)GTC>ATC	p.V1176I	CACNA1E_uc009wxs.2_Missense_Mutation_p.V1064I|CACNA1E_uc001gox.1_Missense_Mutation_p.V402I|CACNA1E_uc009wxt.2_Missense_Mutation_p.V402I	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1176	Extracellular (Potential).|III.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						AGAGGACCCCGTCCTGACCAA	0.617													A	181706764	G	A	181706764	3	1	8	1	0	0	0	0	1	0	0	0	2542	1145	40	1	3616	1	CACNA1E	1	181706764	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1471228	181706764	67543857	119	7141											
CACNA1E	777	broad.mit.edu	37	chr1	181731743	181731743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacctggaatatctttgacTtcatcaccgtgattggcagt	8	10	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:181731743T>C	uc001gow.2	+	33	4804	c.4639T>C	c.(4639-4641)TTC>CTC	p.F1547L	CACNA1E_uc009wxs.2_Missense_Mutation_p.F1435L|CACNA1E_uc001gox.1_Missense_Mutation_p.F773L|CACNA1E_uc009wxt.2_Missense_Mutation_p.F773L	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1547	Helical; Name=S3 of repeat IV.|IV.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TATCTTTGACTTCATCACCGT	0.398													C	181731743	T	C	181731743	3	2	8	1	0	0	0	0	1	0	0	0	2542	1609	56	3	4769	3	CACNA1E	1	181731743	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	24979	181731743	67518878	120	7142											
APOBEC4	403314	broad.mit.edu	37	chr1	183617241	183617241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggcattgatttcatatgCgttgtgcctgtcagccagtg	11	8	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:183617241C>T	uc001gqn.2	-	2	948	c.676G>A	c.(676-678)GCA>ACA	p.A226T	RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Intron|RGL1_uc010pog.1_Intron|RGL1_uc010poh.1_Intron	NM_203454	NP_982279	Q8WW27	ABEC4_HUMAN	apolipoprotein B	226					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding				0						ATTTCATATGCGTTGTGCCTG	0.433													T	183617241	C	T	183617241	3	4	8	1	0	0	0	0	1	0	0	0	796	768	27	1	431	1	APOBEC4	1	183617241	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1885498	183617241	65633380	121	7143											
GLT25D2	23127	broad.mit.edu	37	chr1	183944249	183944249	+	Frame_Shift_Del	DEL	T	T	-													accagaatgtagtctgaccaTttttccctcgcagttcgaag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:183944248_183944248AT>A	uc001gqr.3	-	2	847	c.475_475AT>T	c.(475-477)tggfs	p.W159fs	GLT25D2_uc010poj.1_Frame_Shift_Del_p.W159fs|GLT25D2_uc001gqs.3_Frame_Shift_Del_p.W39fs	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA.	159					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2)	31						TAGTCTGACCATTTTTCCCTC	0.458													-	183944249	T	-	183944249	7	5	8	1	0	1	0	1	0	0	0	0	6467	1490	52	0	1446	0	GLT25D2	1	183944249	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	327008	183944249	65306372	122	7144											
IVNS1ABP	10625	broad.mit.edu	37	chr1	185270128	185270128	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctatgagtttgccattcaTctctgctgttcccagaccag	8	12	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:185270128T>C	uc001grl.2	-	10	1719	c.1096A>G	c.(1096-1098)ATG>GTG	p.M366V	IVNS1ABP_uc001gri.2_Missense_Mutation_p.M26V|IVNS1ABP_uc001grj.2_Missense_Mutation_p.M26V|IVNS1ABP_uc009wyj.2_Missense_Mutation_p.M148V|IVNS1ABP_uc009wyk.2_RNA|IVNS1ABP_uc001grm.2_Missense_Mutation_p.M26V	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	366	Sufficient for AHR interaction and signaling.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				ovary(4)|central_nervous_system(1)	5						TTGCCATTCATCTCTGCTGTT	0.433													C	185270128	T	C	185270128	3	2	8	1	0	0	0	0	1	0	0	0	7930	1435	50	3	856	3	IVNS1ABP	1	185270128	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	1325879	185270128	63980493	123	7145											
HMCN1	83872	broad.mit.edu	37	chr1	185931751	185931751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttatcccaaaccaaagattGcctggaccgttaacgatatg	8	10	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:185931751G>A	uc001grq.1	+	12	2159	c.1930G>A	c.(1930-1932)GCC>ACC	p.A644T	HMCN1_uc001grr.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	644	Ig-like C2-type 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ACCAAAGATTGCCTGGACCGT	0.428													A	185931751	G	A	185931751	3	1	8	1	0	0	0	0	1	0	0	0	7220	1319	46	2	1976	2	HMCN1	1	185931751	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	661623	185931751	63318870	124	7146											
HMCN1	83872	broad.mit.edu	37	chr1	186092202	186092202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacatggcataaagatgggCgtgcaattgtggaatctatc	11	6	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:186092202C>T	uc001grq.1	+	81	12578	c.12349C>T	c.(12349-12351)CGT>TGT	p.R4117C		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4117	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TAAAGATGGGCGTGCAATTGT	0.512													T	186092202	C	T	186092202	3	4	8	1	0	0	0	0	1	0	0	0	7220	768	27	1	12671	1	HMCN1	1	186092202	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	160451	186092202	63158419	125	7147											
HMCN1	83872	broad.mit.edu	37	chr1	186113746	186113746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagacagagaacaagggGctgctccgaccctgtgcccc	12	15	0	2	rs149329415		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:186113746G>A	uc001grq.1	+	91	14406	c.14177G>A	c.(14176-14178)GGC>GAC	p.G4726D	HMCN1_uc001grs.1_Missense_Mutation_p.G295D	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4726	TSP type-1 4.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AGAACAAGGGGCTGCTCCGAC	0.542													A	186113746	G	A	186113746	3	1	8	1	0	0	0	0	1	0	0	0	7220	1203	42	2	14539	2	HMCN1	1	186113746	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	21544	186113746	63136875	126	7148											
PRG4	10216	broad.mit.edu	37	chr1	186276755	186276755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgagaagctcgcacccaCcacccctgagaagcccgcac	8	21	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:186276755C>T	uc001gru.3	+	7	1955	c.1904C>T	c.(1903-1905)ACC>ATC	p.T635I	PRG4_uc001grt.3_Missense_Mutation_p.T594I|PRG4_uc009wyl.2_Missense_Mutation_p.T542I|PRG4_uc009wym.2_Missense_Mutation_p.T501I|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	635	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CTCGCACCCACCACCCCTGAG	0.682													T	186276755	C	T	186276755	3	4	8	1	0	0	0	0	1	0	0	0	12481	507	18	4	1926	4	PRG4	1	186276755	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	163009	186276755	62973866	127	7149											
TPR	7175	broad.mit.edu	37	chr1	186328983	186328983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctacagctttctgtgcaCgttcatattcctcacgctgg	8	12	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:186328983C>T	uc001grv.2	-	12	1634	c.1337G>A	c.(1336-1338)CGT>CAT	p.R446H	TPR_uc010pop.1_Missense_Mutation_p.R522H	NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	446	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTCTGTGCACGTTCATATTC	0.368			T	NTRK1	papillary thyroid								T	186328983	C	T	186328983	3	4	8	1	0	0	0	0	1	0	0	0	16413	536	19	1	5914	1	TPR	1	186328983	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	52228	186328983	62921638	128	7150											
FAM5C	339479	broad.mit.edu	37	chr1	190129847	190129847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatgacacctcttgctaaGgctaaaaagcttgtgtacaa	7	8	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:190129847G>A	uc001gse.1	-	7	1367	c.1135C>T	c.(1135-1137)CTT>TTT	p.L379F	FAM5C_uc010pot.1_Missense_Mutation_p.L277F	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	379						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					CTCTTGCTAAGGCTAAAAAGC	0.393													A	190129847	G	A	190129847	3	1	8	1	0	0	0	0	1	0	0	0	5594	1000	35	4	1173	4	FAM5C	1	190129847	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3800864	190129847	59120774	129	7151											
FAM5C	339479	broad.mit.edu	37	chr1	190129967	190129967	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaatgcattatagtagAtgtgttgaggaaataattca	8	5	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:190129967A>G	uc001gse.1	-	7	1247	c.1015T>C	c.(1015-1017)TCT>CCT	p.S339P	FAM5C_uc010pot.1_Missense_Mutation_p.S237P	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	339						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					ATTATAGTAGATGTGTTGAGG	0.308													G	190129967	A	G	190129967	3	3	8	1	0	0	0	0	1	0	0	0	5594	333	12	3	1293	3	FAM5C	1	190129967	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	120	190129967	59120654	130	7152											
CFH	3075	broad.mit.edu	37	chr1	196887419	196887419	+	Frame_Shift_Del	DEL	A	A	-													agtgacataaaatattatgcAaaaacaggggataccattga							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:196887418_196887418CA>C	uc001gtp.3	+	9	1756	c.1619_1619CA>C	c.(1618-1620)gcafs	p.A540fs	CFH_uc021pgt.1_Frame_Shift_Del_p.A163fs|CFH_uc009wyy.3_Frame_Shift_Del_p.A539fs|CFH_uc001gto.3_Frame_Shift_Del_p.A293fs	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	892	Sushi 9.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAATATTATGCAAAAACAGGG	0.303													-	196887419	A	-	196887419	7	5	8	1	0	1	0	1	0	0	0	0	3283	117	5	0		0	CFH	1	196887419	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	6757452	196887419	52363202	131	7153											
ASPM	259266	broad.mit.edu	37	chr1	197098315	197098315	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcatacaatgaaaagcatAccttgaattcggcatcttta	6	8	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:197098315A>G	uc001gtu.2	-	9	3017	c.2760_splice	c.e9+1	p.K920_splice	ASPM_uc001gtv.2_Splice_Site_p.K920_splice|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly						mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TGAAAAGCATACCTTGAATTC	0.299													G	197098315	A	G	197098315	5	3	8	1	0	0	0	0	0	0	1	0	1056	405	14	3	7751	3	ASPM	1	197098315	Splice_Site	SNP	A	TCGA-BR-4201-01A-01D-1126-08	210896	197098315	52152306	132	7154											
DENND1B	163486	broad.mit.edu	37	chr1	197510138	197510138	+	Frame_Shift_Del	DEL	T	T	-													ttagtcccagctttgcatgaTtttttgcctagaaaatgata							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:197510137_197510137AT>A	uc021pgu.1	-	18	1697	c.1359_1359AT>T	c.(1357-1359)aatfs	p.N453fs	DENND1B_uc010ppf.2_Non-coding_Transcript	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN	Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.	0						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						GCTTTGCATGATTTTTTGCCT	0.308													-	197510138	T	-	197510138	7	5	8	1	0	1	0	1	0	0	0	0	4427	1493	52	0	989	0	DENND1B	1	197510138	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	411823	197510138	51740483	133	7155											
DENND1B	163486	broad.mit.edu	37	chr1	197564380	197564380	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaggatccaaacaaagcAgcctgtgctctaagaaaggc	10	10	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:197564380A>C	uc001guf.3	-	14	1343	c.1005T>G	c.(1003-1005)GCT>GCG	p.A335A	DENND1B_uc010ppe.1_Silent_p.A315A|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Silent_p.A305A	NM_144977	NP_659414	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B isoform 2	335	dDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0						CAAACAAAGCAGCCTGTGCTC	0.428													C	197564380	A	C	197564380	2	2	8	1	0	0	0	0	0	0	0	1	4427	175	7	5		5	DENND1B	1	197564380	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	54242	197564380	51686241	134	7156											
CACNA1S	779	broad.mit.edu	37	chr1	201023674	201023674	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcaatacagtcccccgcTggaggccaggaaagtctgtg	13	12	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:201023674T>G	uc001gvv.2	-	29	3852	c.3625A>C	c.(3625-3627)AGC>CGC	p.S1209R		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1209	IV.|Extracellular (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGTCCCCCGCTGGAGGCCAGG	0.403													G	201023674	T	G	201023674	3	3	8	1	0	0	0	0	1	0	0	0	2547	1580	55	5	2060	5	CACNA1S	1	201023674	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	3459294	201023674	48226947	135	7157											
PPP1R12B	4660	broad.mit.edu	37	chr1	202465946	202465946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgaagaggtcaaagaaaCgtgggtaagtgacaagccag	13	7	2	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:202465946C>T	uc001gya.1	+	18	2630	c.2486C>T	c.(2485-2487)ACG>ATG	p.T829M	PPP1R12B_uc001gxz.1_Missense_Mutation_p.T829M|PPP1R12B_uc001gyb.1_Missense_Mutation_p.T55M|PPP1R12B_uc001gyc.1_Missense_Mutation_p.T55M	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	829					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			GTCAAAGAAACGTGGGTAAGT	0.403													T	202465946	C	T	202465946	3	4	8	1	0	0	0	0	1	0	0	0	12355	536	19	1	2646	1	PPP1R12B	1	202465946	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1442272	202465946	46784675	136	7158											
TMEM183A	92703	broad.mit.edu	37	chr1	202985125	202985125	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccctgcctttgcgtctgCgaccagagtcaatggagaag	11	12	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:202985125C>T	uc001gyu.1	+	5	623	c.565C>T	c.(565-567)CGA>TGA	p.R189*	TMEM183A_uc009xai.1_Nonsense_Mutation_p.R189*|TMEM183A_uc001gyv.1_RNA|TMEM183A_uc001gyw.1_Nonsense_Mutation_p.R188*|TMEM183A_uc001gyx.1_Nonsense_Mutation_p.R188*	NM_001079809	NP_001073277	Q8IXX5	T183A_HUMAN	transmembrane protein 183B	189						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(75;0.18)			TTTGCGTCTGCGACCAGAGTC	0.502													T	202985125	C	T	202985125	4	4	8	1	0	0	0	0	0	1	0	0	16099	760	27	1	583	1	TMEM183A	1	202985125	Nonsense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	519179	202985125	46265496	137	7159											
FMOD	2331	broad.mit.edu	37	chr1	203316449	203316449	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattgccttggaggtagaggTtctccaggttggtgttgact	14	6	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:203316449T>C	uc001gzr.2	-	2	1086	c.950A>G	c.(949-951)AAC>AGC	p.N317S	FMOD_uc010pqi.1_RNA	NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	317	LRR 10.				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.171)			GAGGTAGAGGTTCTCCAGGTT	0.532													C	203316449	T	C	203316449	3	2	8	1	0	0	0	0	1	0	0	0	5959	1725	60	3	188	3	FMOD	1	203316449	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	331324	203316449	45934172	138	7160											
PRELP	5549	broad.mit.edu	37	chr1	203452549	203452549	+	Frame_Shift_Del	DEL	C	C	-													tgtccccgcgaatgctactgCccccctgatttcccatctgc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:203452548_203452548GC>G	uc001gzs.3	+	1	436	c.236_236GC>G	c.(235-237)tgcfs	p.C79fs	PRELP_uc001gzt.3_Frame_Shift_Del_p.C79fs	NM_002725	NP_958505	P51888	PRELP_HUMAN	Homo sapiens proline/arginine-rich end leucine-rich repeat protein (PRELP), transcript variant 1, mRNA.	79	Cys-rich.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GAATGCTACTGCCCCCCTGAT	0.582													-	203452549	C	-	203452549	7	5	8	1	0	1	0	1	0	0	0	0	12473	747	26	0	239	0	PRELP	1	203452549	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	136100	203452549	45798072	139	7161											
ZC3H11A	9877	broad.mit.edu	37	chr1	203816504	203816505	+	Frame_Shift_Ins	INS	-	-	A													ttctctgaggtcctggctgaINSaaaaaaacatcggcagcagg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:203816503_203816504G>GA	uc001hac.3	+	14	1850_1851	c.1234_1235G>GA	c.(1234-1236)gaafs	p.E412fs	ZC3H11A_uc001had.3_Frame_Shift_Ins_p.E412fs|ZC3H11A_uc001hae.3_Frame_Shift_Ins_p.E412fs|ZC3H11A_uc001haf.3_Frame_Shift_Ins_p.E412fs|ZC3H11A_uc010pqm.2_Frame_Shift_Ins_p.E358fs|ZC3H11A_uc001hag.1_Frame_Shift_Ins_p.E412fs	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	412				E -> K (in Ref. 3; CAH10525).			nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGTCCTGGCTGAAAAAAAACAT	0.386													A	203816505	-	A	203816504	7	5	8	1	0	1	1	0	0	0	0	0	17557	246	9	0	1277	0	ZC3H11A	1	203816504	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	363955	203816504	45434117	140	7162											
PIK3C2B	5287	broad.mit.edu	37	chr1	204400821	204400821	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtgggaagaagggaagAgcagccgcaacttattgtgt	15	6	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:204400821A>C	uc001haw.2	-	29	4735	c.4256T>G	c.(4255-4257)CTC>CGC	p.L1419R	PIK3C2B_uc010pqv.1_Missense_Mutation_p.L1391R	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	1419	PX.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AGAAGGGAAGAGCAGCCGCAA	0.542											OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	204400821	A	C	204400821	3	2	8	1	0	0	0	0	1	0	0	0	11910	304	11	5	672	5	PIK3C2B	1	204400821	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	584317	204400821	44849800	141	7163											
PIK3C2B	5287	broad.mit.edu	37	chr1	204418318	204418318	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctaaagcctcacctgcaGgatgacactgtctggctggt	13	11	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:204418318G>T	uc001haw.2	-	15	2820	c.2341C>A	c.(2341-2343)CTG>ATG	p.L781M	PIK3C2B_uc010pqv.1_Missense_Mutation_p.L781M	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	781					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTCACCTGCAGGATGACACTG	0.552													T	204418318	G	T	204418318	3	4	8	1	0	0	0	0	1	0	0	0	11910	991	35	5	2643	5	PIK3C2B	1	204418318	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	17497	204418318	44832303	142	7164											
SLC41A1	254428	broad.mit.edu	37	chr1	205766095	205766095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcccagcaaagttgggGtctgagacagtcttgtccaa	11	11	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:205766095G>A	uc001hdh.1	-	8	1901	c.1029C>T	c.(1027-1029)GAC>GAT	p.D343D	SLC41A1_uc001hdg.1_5'Flank|uc001hdi.1_5'Flank	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 member 1	343						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			skin(2)	2	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CAAAGTTGGGGTCTGAGACAG	0.522													A	205766095	G	A	205766095	2	1	8	1	0	0	0	0	0	0	0	1	14629	1252	44	4		4	SLC41A1	1	205766095	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1347777	205766095	43484526	143	7165											
SRGAP2	23380	broad.mit.edu	37	chr1	206611390	206611390	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgaagctttacttccgGgggctggaacaccctctctt	10	13	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:206611390G>T	uc001hdy.2	+	13	1782	c.1449G>T	c.(1447-1449)CGG>CGT	p.R483R	SRGAP2_uc010prt.1_Silent_p.R406R|SRGAP2_uc001hdx.2_Silent_p.R483R|SRGAP2_uc010pru.1_Silent_p.R406R|SRGAP2_uc010prv.1_Silent_p.R407R	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	570	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)					TTTACTTCCGGGGGCTGGAAC	0.552													T	206611390	G	T	206611390	2	4	8	1	0	0	0	0	0	0	0	1	15145	1219	43	5		5	SRGAP2	1	206611390	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	845295	206611390	42639231	144	7166											
CD34	947	broad.mit.edu	37	chr1	208061172	208061172	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgttttcctgagcccctcGgttcacactggcctttccct	7	18	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:208061172G>A	uc001hgw.1	-	8	1327	c.1069C>T	c.(1069-1071)CGA>TGA	p.R357*	CD34_uc001hgv.1_Nonsense_Mutation_p.R199*|CD34_uc001hgx.1_3'UTR|CD34_uc010psj.1_Nonsense_Mutation_p.R222*	NM_001025109	NP_001020280	P28906	CD34_HUMAN	CD34 antigen isoform a	357	Cytoplasmic (Potential).				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			ovary(1)	1						TGAGCCCCTCGGTTCACACTG	0.592													A	208061172	G	A	208061172	4	1	8	1	0	0	0	0	0	1	0	0	3006	1124	39	1	92	1	CD34	1	208061172	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1449782	208061172	41189449	145	7167											
SERTAD4	56256	broad.mit.edu	37	chr1	210411408	210411408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgggaggctgacagctacGgaggcccaagccccccaggg	15	13	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:210411408G>A	uc001hhy.2	+	2	282	c.103G>A	c.(103-105)GGA>AGA	p.G35R	SERTAD4_uc009xcw.2_Missense_Mutation_p.G35R	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	35							protein binding			ovary(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TGACAGCTACGGAGGCCCAAG	0.602													A	210411408	G	A	210411408	3	1	8	1	0	0	0	0	1	0	0	0	14123	1117	39	1	105	1	SERTAD4	1	210411408	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2350236	210411408	38839213	146	7168											
TRAF5	7188	broad.mit.edu	37	chr1	211546014	211546014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctgttcttgaaagtggcCgtggacttaactgacctgga	11	9	2	2	rs147270768	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:211546014C>T	uc001hih.2	+	11	1704	c.1644C>T	c.(1642-1644)GCC>GCT	p.A548A	TRAF5_uc001hii.2_Silent_p.A548A|TRAF5_uc010psx.1_Silent_p.A559A|TRAF5_uc010psy.1_Silent_p.A442A|TRAF5_uc001hij.2_Silent_p.A548A	NM_004619	NP_004610	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	548	MATH.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|breast(2)|ovary(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TGAAAGTGGCCGTGGACTTAA	0.468													T	211546014	C	T	211546014	2	4	8	1	0	0	0	0	0	0	0	1	16441	639	23	1		1	TRAF5	1	211546014	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1134606	211546014	37704607	147	7169											
SLC30A1	7779	broad.mit.edu	37	chr1	211749384	211749384	+	Frame_Shift_Del	DEL	G	G	-													atttctacaaatgctttgcaGgggtcagggaaacatggatt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:211749383_211749383AG>A	uc001hio.1	-	1	1016	c.871_871CT>T	c.(871-873)tgcfs	p.C291fs		NM_021194	NP_067017	Q9Y6M5	ZNT1_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 1 (SLC30A1), mRNA.	291					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	T-tubule|integral to membrane	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		AATGCTTTGCAGGGGTCAGGG	0.383													-	211749384	G	-	211749384	7	5	8	1	0	1	0	1	0	0	0	0	14553	987	35	0	657	0	SLC30A1	1	211749384	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	203370	211749384	37501237	148	7170											
NEK2	4751	broad.mit.edu	37	chr1	211843642	211843642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttaagtttaacatcctcGtaataatttcattcaattca	2	9	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:211843642G>A	uc001hir.1	-	5	892	c.746C>T	c.(745-747)ACG>ATG	p.T249M	NEK2_uc001hiq.1_Missense_Mutation_p.T249M|NEK2_uc001his.3_Missense_Mutation_p.T249M|NEK2_uc001hit.1_RNA	NM_002497	NP_002488	P51955	NEK2_HUMAN	NIMA-related kinase 2	249	Protein kinase.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TAACATCCTCGTAATAATTTC	0.353													A	211843642	G	A	211843642	3	1	8	1	0	0	0	0	1	0	0	0	10324	1145	40	1	607	1	NEK2	1	211843642	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	94258	211843642	37406979	149	7171											
TMEM206	55248	broad.mit.edu	37	chr1	212560431	212560431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgctgctggaggcggactCgctgtccaggcctgacaaca	14	12	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:212560431C>T	uc001hjc.3	-	3	313	c.145G>A	c.(145-147)GAG>AAG	p.E49K	TMEM206_uc010pte.1_Missense_Mutation_p.E110K	NM_018252	NP_060722	Q9H813	TM206_HUMAN	transmembrane protein 206	49	Cytoplasmic (Potential).					integral to membrane				breast(1)	1				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		GAGGCGGACTCGCTGTCCAGG	0.587													T	212560431	C	T	212560431	3	4	8	1	0	0	0	0	1	0	0	0	16128	893	31	1	931	1	TMEM206	1	212560431	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	716789	212560431	36690190	150	7172											
CENPF	1063	broad.mit.edu	37	chr1	214792011	214792011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaaaaatttttacaactcCactaacaccaagtcaatatt	1	10	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:214792011C>T	uc001hkm.2	+	4	629	c.455C>T	c.(454-456)CCA>CTA	p.P152L		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	152	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).|Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTTACAACTCCACTAACACCA	0.353													T	214792011	C	T	214792011	3	4	8	1	0	0	0	0	1	0	0	0	3231	594	21	4	465	4	CENPF	1	214792011	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2231580	214792011	34458610	151	7173											
CENPF	1063	broad.mit.edu	37	chr1	214819293	214819293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcgagaaactgagagttcGcattgaggccgatgaaaaga	12	7	0	5			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:214819293G>A	uc001hkm.2	+	13	6554	c.6380G>A	c.(6379-6381)CGC>CAC	p.R2127H		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2223	Potential.|2-1.|2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.R2127H(1)		ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTGAGAGTTCGCATTGAGGCC	0.498													A	214819293	G	A	214819293	3	1	8	1	0	0	0	0	1	0	0	0	3231	1087	38	1	6426	1	CENPF	1	214819293	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	27282	214819293	34431328	152	7174											
SPATA17	128153	broad.mit.edu	37	chr1	217955552	217955552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccgaagtattagaacaaCgctacaggcctttggagcca	9	11	1	1	rs145142638	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:217955552C>T	uc001hlh.1	+	8	786	c.760C>T	c.(760-762)CGC>TGC	p.R254C	SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.R254C	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	254						cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ATTAGAACAACGCTACAGGCC	0.458													T	217955552	C	T	217955552	3	4	8	1	0	0	0	0	1	0	0	0	15001	536	19	1	790	1	SPATA17	1	217955552	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	3136259	217955552	31295069	153	7175											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220324711	220324711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactagtttagctgttgttGcaattggcacttcagtgttt	9	6	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:220324711G>A	uc010puk.1	-	35	4228	c.4064C>T	c.(4063-4065)GCA>GTA	p.A1355V	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.A935V|RAB3GAP2_uc001hmh.2_3'UTR	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	1355					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)		AGCTGTTGTTGCAATTGGCAC	0.368													A	220324711	G	A	220324711	3	1	8	1	0	0	0	0	1	0	0	0	12936	1319	46	2	121	2	RAB3GAP2	1	220324711	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2369159	220324711	28925910	154	7176											
DISP1	84976	broad.mit.edu	37	chr1	223177546	223177546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctacctcttcacactggCttatgaaaagatgcatcagt	6	11	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:223177546C>T	uc001hnu.1	+	8	2954	c.2807C>T	c.(2806-2808)GCT>GTT	p.A936V		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	936					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TTCACACTGGCTTATGAAAAG	0.473													T	223177546	C	T	223177546	3	4	8	1	0	0	0	0	1	0	0	0	4539	797	28	2	2833	2	DISP1	1	223177546	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2852835	223177546	26073075	155	7177											
CAPN2	824	broad.mit.edu	37	chr1	223943271	223943271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcggctgcaccttcctgGtggggctcattcagaagcac	13	12	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:223943271G>A	uc001hob.3	+	10	1449	c.1225G>A	c.(1225-1227)GTG>ATG	p.V409M	CAPN2_uc010puy.1_Missense_Mutation_p.V331M|CAPN2_uc001hoc.2_5'Flank	NM_001748	NP_001739	P17655	CAN2_HUMAN	calpain 2 isoform 1	409	Domain III.				proteolysis	cytoplasm|plasma membrane				lung(3)|breast(1)|skin(1)	5				GBM - Glioblastoma multiforme(131;0.109)		CACCTTCCTGGTGGGGCTCAT	0.493													A	223943271	G	A	223943271	3	1	8	1	0	0	0	0	1	0	0	0	2627	1261	44	4	1270	4	CAPN2	1	223943271	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	765725	223943271	25307350	156	7178											
OBSCN	84033	broad.mit.edu	37	chr1	228509533	228509533	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagagagtgaagccgagagCtcctctgggggtgagctgga	17	8	2	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:228509533C>T	uc009xez.1	+	55	15035	c.14991C>T	c.(14989-14991)AGC>AGT	p.S4997S	OBSCN_uc001hsn.2_Silent_p.S4997S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4997					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AAGCCGAGAGCTCCTCTGGGG	0.617													T	228509533	C	T	228509533	2	4	8	1	0	0	0	0	0	0	0	1	10812	796	28	2		2	OBSCN	1	228509533	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	4566262	228509533	20741088	157	7179											
COG2	22796	broad.mit.edu	37	chr1	230798937	230798937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcagttgatgaacgaatGtctaaacaagaggacattag	12	6	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:230798937G>A	uc001htw.2	+	4	502	c.351G>A	c.(349-351)ATG>ATA	p.M117I	COG2_uc001htx.2_Missense_Mutation_p.M117I|COG2_uc010pwc.1_5'UTR	NM_007357	NP_031383	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2 isoform	117					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				ATGAACGAATGTCTAAACAAG	0.338													A	230798937	G	A	230798937	3	1	8	1	0	0	0	0	1	0	0	0	3658	1377	48	4	365	4	COG2	1	230798937	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2289404	230798937	18451684	158	7180											
DISC1	27185	broad.mit.edu	37	chr1	231954130	231954131	+	Frame_Shift_Del	DEL	AG	AG	-													gagattagatcattaacatcAgagagagaagggctggaggg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:231954129_231954130CAG>C	uc010pxh.2	+	9	1996_1997	c.1943_1944CAG>C	c.(1942-1944)tcafs	p.S648fs	DISC1_uc010pwj.1_Frame_Shift_Del_p.S605fs|DISC1_uc010pwk.1_3'UTR|DISC1_uc010pwg.1_Frame_Shift_Del_p.S605fs|DISC1_uc010pwh.1_Frame_Shift_Del_p.S571fs|DISC1_uc010pwi.1_Frame_Shift_Del_p.S571fs|DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pwr.1_Frame_Shift_Del_p.S616fs|DISC1_uc010pws.1_3'UTR|DISC1_uc010pwt.1_3'UTR|DISC1_uc010pwu.1_3'UTR|DISC1_uc010pwv.2_Non-coding_Transcript|DISC1_uc010pwx.2_Non-coding_Transcript|DISC1_uc010pww.2_Frame_Shift_Del_p.S616fs|DISC1_uc001huy.3_Frame_Shift_Del_p.S616fs|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Frame_Shift_Del_p.S616fs|DISC1_uc010pxc.1_Intron|DISC1_uc010pxe.2_Frame_Shift_Del_p.S616fs|DISC1_uc010pxf.2_Frame_Shift_Del_p.S616fs|DISC1_uc010pxg.2_Intron|DISC1_uc010pxd.2_Frame_Shift_Del_p.S261fs|DISC1_uc009xfr.3_Frame_Shift_Del_p.S571fs|DISC1_uc010pxn.1_Frame_Shift_Del_p.S261fs|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_Frame_Shift_Del_p.S261fs|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Frame_Shift_Del_p.S494fs|DISC1_uc001huz.3_Frame_Shift_Del_p.S616fs|DISC1_uc001hva.3_Frame_Shift_Del_p.S616fs|DISC2_uc001hvd.3_Non-coding_Transcript	NM_001164537	NP_001158009	Q9NRI5	DISC1_HUMAN	Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.	616	Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TCATTAACATCAGAGAGAGAAG	0.46													-	231954131	AG	-	231954130	7	5	8	1	0	1	0	1	0	0	0	0	4538	175	7	0	2255	0	DISC1	1	231954130	Frame_Shift_Del	DEL	AG	TCGA-BR-4201-01A-01D-1126-08	1155193	231954130	17296491	159	7181											
SIPA1L2	57568	broad.mit.edu	37	chr1	232626723	232626723	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatgacgtattccaaaactTctttgagaggtagtcctcgt	9	8	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:232626723T>C	uc001hvg.2	-	3	1861	c.1703A>G	c.(1702-1704)GAA>GGA	p.E568G		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	568					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCCAAAACTTCTTTGAGAGG	0.473													C	232626723	T	C	232626723	3	2	8	1	0	0	0	0	1	0	0	0	14330	1783	62	3	3541	3	SIPA1L2	1	232626723	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	672593	232626723	16623898	160	7182											
TARBP1	6894	broad.mit.edu	37	chr1	234565327	234565327	+	Frame_Shift_Del	DEL	T	T	-													gttggtataagggtgtgataTtttttcaacaggaaagagag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:234565326_234565326AT>A	uc001hwd.3	-	15	2707	c.2707_2707AT>T	c.(2707-2709)tatfs	p.Y903fs		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	903					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AGGGTGTGATATTTTTTCAAC	0.433													-	234565327	T	-	234565327	7	5	8	1	0	1	0	1	0	0	0	0	15552	1490	52	0	2219	0	TARBP1	1	234565327	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	1938604	234565327	14685294	161	7183											
ACTN2	88	broad.mit.edu	37	chr1	236902754	236902754	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagaaatgccagctggagatCaacttcaacacgctgcagac	10	11	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:236902754C>A	uc001hyf.2	+	10	1233	c.1029C>A	c.(1027-1029)ATC>ATA	p.I343I	ACTN2_uc001hyg.2_Silent_p.I135I|ACTN2_uc009xgi.1_Silent_p.I343I|ACTN2_uc010pxu.1_Intron|ACTN2_uc001hyh.2_Silent_p.I31I	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	343	Spectrin 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AGCTGGAGATCAACTTCAACA	0.582													A	236902754	C	A	236902754	2	1	8	1	0	0	0	0	0	0	0	1	205	816	29	5		5	ACTN2	1	236902754	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2337427	236902754	12347867	162	7184											
ACTN2	88	broad.mit.edu	37	chr1	236920825	236920825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgctgctgacaaccatcGccagaaccatcaatgaggtg	10	12	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:236920825G>A	uc001hyf.2	+	18	2398	c.2194G>A	c.(2194-2196)GCC>ACC	p.A732T	ACTN2_uc001hyg.2_Missense_Mutation_p.A524T|ACTN2_uc009xgi.1_Missense_Mutation_p.A732T|ACTN2_uc010pxu.1_Missense_Mutation_p.A421T|ACTN2_uc001hyh.2_Missense_Mutation_p.A420T	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	732	Spectrin 4.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GACAACCATCGCCAGAACCAT	0.507													A	236920825	G	A	236920825	3	1	8	1	0	0	0	0	1	0	0	0	205	1087	38	1	2264	1	ACTN2	1	236920825	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	18071	236920825	12329796	163	7185											
CHRM3	1131	broad.mit.edu	37	chr1	240072247	240072247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcagtgcgatcttgcttgCcttcatcatcacttggaccc	7	15	5	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:240072247C>T	uc001hyp.2	+	5	2275	c.1496C>T	c.(1495-1497)GCC>GTC	p.A499V		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	499	Helical; Name=6; (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ATCTTGCTTGCCTTCATCATC	0.498													T	240072247	C	T	240072247	3	4	8	1	0	0	0	0	1	0	0	0	3378	739	26	2	1498	2	CHRM3	1	240072247	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	3151422	240072247	9178374	164	7186											
CNST	163882	broad.mit.edu	37	chr1	246755180	246755180	+	Frame_Shift_Del	DEL	A	A	-													aggccttcttgggaaaggacAaaaaaattcctggaaaaaga							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:246755179_246755179CA>C	uc001ibp.3	+	1	693	c.315_315CA>C	c.(313-315)gacfs	p.D105fs	CNST_uc001ibo.4_Frame_Shift_Del_p.D105fs	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	105					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TGGGAAAGGACAAAAAAATTC	0.413													-	246755180	A	-	246755180	7	5	8	1	0	1	0	1	0	0	0	0	3634	131	5	0	318	0	CNST	1	246755180	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	6682933	246755180	2495441	165	7187											
SCCPDH	51097	broad.mit.edu	37	chr1	246890298	246890298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagttgtcctcaattgcGtaggaccagtaagtaatcaa	8	9	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:246890298G>A	uc001ibr.2	+	2	642	c.295G>A	c.(295-297)GTA>ATA	p.V99I		NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	99						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			ovary(1)	1	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		CCTCAATTGCGTAGGACCAGT	0.398													A	246890298	G	A	246890298	3	1	8	1	0	0	0	0	1	0	0	0	13885	1145	40	1	301	1	SCCPDH	1	246890298	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	135118	246890298	2360323	166	7188											
AHCTF1	25909	broad.mit.edu	37	chr1	247063740	247063740	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatatattcacctgccaggtAaagactgaaacactagtgtc	7	9	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:247063740A>T	uc001ibu.1	-	8	1156	c.1149T>A	c.(1147-1149)TTT>TTA	p.F383L	AHCTF1_uc001ibv.1_Missense_Mutation_p.F392L|AHCTF1_uc009xgs.1_5'Flank	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	383	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CCTGCCAGGTAAAGACTGAAA	0.348													T	247063740	A	T	247063740	3	4	8	1	0	0	0	0	1	0	0	0	408	359	13	5	5763	5	AHCTF1	1	247063740	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	173442	247063740	2186881	167	7189											
OR6F1	343169	broad.mit.edu	37	chr1	247875374	247875374	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccggccactggcagagggGatcctgaggatggtgctgat	16	10	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:247875374G>A	uc001idj.1	-	1	684	c.684C>T	c.(682-684)ATC>ATT	p.I228I		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	228	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGGCAGAGGGGATCCTGAGGA	0.527													A	247875374	G	A	247875374	2	1	8	1	0	0	0	0	0	0	0	1	11201	1164	41	4		4	OR6F1	1	247875374	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	811634	247875374	1375247	168	7190											
OR1C1	26188	broad.mit.edu	37	chr1	247920953	247920953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagacggcgatggctgtgccGtaaaacaacaccaccactga	10	12	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:247920953G>A	uc010pza.1	-	1	756	c.756C>T	c.(754-756)TAC>TAT	p.Y252Y		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	252	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGGCTGTGCCGTAAAACAACA	0.522													A	247920953	G	A	247920953	2	1	8	1	0	0	0	0	0	0	0	1	10952	1140	40	1		1	OR1C1	1	247920953	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	45579	247920953	1329668	169	7191											
OR2W3	343171	broad.mit.edu	37	chr1	248059482	248059482	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtggccatcgaaggcacCgtctttgtcctggcggtggg	15	11	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:248059482C>T	uc001idp.1	+	3	863	c.594C>T	c.(592-594)ACC>ACT	p.T198T	OR2W3_uc010pzb.1_Silent_p.T198T	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	198	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCGAAGGCACCGTCTTTGTCC	0.587													T	248059482	C	T	248059482	2	4	8	1	0	0	0	0	0	0	0	1	11033	639	23	1		1	OR2W3	1	248059482	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	138529	248059482	1191139	170	7192											
CPSF3	51692	broad.mit.edu	37	chr2	9611523	9611523	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggatgactctattcttagCgtcacagtggacgggaaaac	11	8	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:9611523C>T	uc002qzo.1	+	17	1943	c.1908C>T	c.(1906-1908)AGC>AGT	p.S636S	CPSF3_uc002qzp.1_Silent_p.S599S|CPSF3_uc002qzq.1_Silent_p.S213S	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3,	636					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			breast(2)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		CTATTCTTAGCGTCACAGTGG	0.418													T	9611523	C	T	9611523	2	4	8	1	0	0	0	0	0	0	0	1	3826	767	27	1		1	CPSF3	2	9611523	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08		9611523	233587850	171	7193											
NOL10	79954	broad.mit.edu	37	chr2	10729712	10729712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagtacattactttttcacGaagttcttgttgctctaaga	8	7	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:10729712G>A	uc002raq.2	-	18	1713	c.1588C>T	c.(1588-1590)CGT>TGT	p.R530C	NOL10_uc010yje.1_Missense_Mutation_p.R504C|NOL10_uc010yjf.1_Missense_Mutation_p.R480C|NOL10_uc002rap.2_Missense_Mutation_p.R480C	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	530	Potential.					nucleolus					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		ACTTTTTCACGAAGTTCTTGT	0.308													A	10729712	G	A	10729712	3	1	8	1	0	0	0	0	1	0	0	0	10520	1058	37	1	494	1	NOL10	2	10729712	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1118189	10729712	232469661	172	7194											
GREB1	9687	broad.mit.edu	37	chr2	11758537	11758537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggtgagaaacagaggcCccgggcaagtcaggggccac	15	13	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:11758537C>T	uc002rbk.1	+	22	3836	c.3536C>T	c.(3535-3537)CCC>CTC	p.P1179L	GREB1_uc002rbp.1_Missense_Mutation_p.P177L	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1179	Ser-rich.					integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AAACAGAGGCCCCGGGCAAGT	0.721													T	11758537	C	T	11758537	3	4	8	1	0	0	0	0	1	0	0	0	6760	623	22	4	3726	4	GREB1	2	11758537	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1028825	11758537	231440836	173	7195											
GREB1	9687	broad.mit.edu	37	chr2	11773069	11773069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccataacctggagctcgagcGgaaccggcaggaggagctgg	16	11	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:11773069G>A	uc002rbk.1	+	28	5171	c.4871G>A	c.(4870-4872)CGG>CAG	p.R1624Q	GREB1_uc002rbp.1_Missense_Mutation_p.R622Q	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1624						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GAGCTCGAGCGGAACCGGCAG	0.562													A	11773069	G	A	11773069	3	1	8	1	0	0	0	0	1	0	0	0	6760	1116	39	1	5085	1	GREB1	2	11773069	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	14532	11773069	231426304	174	7196											
NBAS	51594	broad.mit.edu	37	chr2	15614225	15614225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcctctggtgtcgtggagCgcaaactcacaaggcggtag	14	10	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:15614225C>T	uc002rcc.1	-	15	1591	c.1565G>A	c.(1564-1566)CGC>CAC	p.R522H	NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	522										ovary(2)|liver(1)|skin(1)	4						TGTCGTGGAGCGCAAACTCAC	0.433													T	15614225	C	T	15614225	3	4	8	1	0	0	0	0	1	0	0	0	10186	768	27	1	5702	1	NBAS	2	15614225	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	3841156	15614225	227585148	175	7197											
NBAS	51594	broad.mit.edu	37	chr2	15614424	15614424	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctagtctccaaacgagatcGtttgggggcaagtttaatct	10	8	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:15614424G>A	uc002rcc.1	-	15	1392	c.1366C>T	c.(1366-1368)CGA>TGA	p.R456*	NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	456										ovary(2)|liver(1)|skin(1)	4						AAACGAGATCGTTTGGGGGCA	0.333													A	15614424	G	A	15614424	4	1	8	1	0	0	0	0	0	1	0	0	10186	1153	40	1	5901	1	NBAS	2	15614424	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	199	15614424	227584949	176	7198											
NT5C1B	93034	broad.mit.edu	37	chr2	18765854	18765854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagtaggcagcctcgtagtCgtcctcgtcctcccgctgct	10	17	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:18765854C>T	uc002rcz.2	-	5	933	c.829G>A	c.(829-831)GAC>AAC	p.D277N	NT5C1B_uc002rcy.2_Missense_Mutation_p.D277N|NT5C1B_uc010exr.2_Missense_Mutation_p.D219N|NT5C1B_uc010yju.1_Missense_Mutation_p.D217N|NT5C1B_uc002rda.2_Missense_Mutation_p.D217N|NT5C1B_uc010yjv.1_Missense_Mutation_p.D294N|NT5C1B_uc010yjw.1_Missense_Mutation_p.D260N|NT5C1B_uc010exs.2_Missense_Mutation_p.D279N|NT5C1B_uc002rdb.1_Missense_Mutation_p.D69N	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 1	277					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GCCTCGTAGTCGTCCTCGTCC	0.682													T	18765854	C	T	18765854	3	4	8	1	0	0	0	0	1	0	0	0	10686	884	31	1	1027	1	NT5C1B	2	18765854	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	3151430	18765854	224433519	177	7199											
NCOA1	8648	broad.mit.edu	37	chr2	24927973	24927973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgatgactcgtggcactgCctccagcccctcctatagat	9	14	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:24927973C>T	uc002rfk.2	+	10	1226	c.968C>T	c.(967-969)GCC>GTC	p.A323V	NCOA1_uc010eye.2_Missense_Mutation_p.A323V|NCOA1_uc002rfi.2_Missense_Mutation_p.A172V|NCOA1_uc002rfj.2_Missense_Mutation_p.A323V|NCOA1_uc002rfl.2_Missense_Mutation_p.A323V	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	323									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGGCACTGCCTCCAGCCCC	0.423			T	PAX3	alveolar rhadomyosarcoma								T	24927973	C	T	24927973	3	4	8	1	0	0	0	0	1	0	0	0	10228	739	26	2	998	2	NCOA1	2	24927973	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	6162119	24927973	218271400	178	7200											
ASXL2	55252	broad.mit.edu	37	chr2	25966041	25966041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgctttacttagtccttcGtggtattggtgtgtgtcaat	11	6	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:25966041G>A	uc002rgs.2	-	12	3386	c.3165C>T	c.(3163-3165)CAC>CAT	p.H1055H	ASXL2_uc002rgt.1_Intron	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	1055					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTAGTCCTTCGTGGTATTGGT	0.507													A	25966041	G	A	25966041	2	1	8	1	0	0	0	0	0	0	0	1	1067	1136	40	1		1	ASXL2	2	25966041	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1038068	25966041	217233332	179	7201											
KIF3C	3797	broad.mit.edu	37	chr2	26203385	26203385	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgccttctcctcctccaGccgctccttctgttcctgca	7	19	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:26203385G>A	uc002rgu.2	-	1	2059	c.1402C>T	c.(1402-1404)CTG>TTG	p.L468L	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Silent_p.L468L	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	468	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)					TCCTCCTCCAGCCGCTCCTTC	0.592													A	26203385	G	A	26203385	2	1	8	1	0	0	0	0	0	0	0	1	8302	962	34	2		2	KIF3C	2	26203385	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	237344	26203385	216995988	180	7202											
GTF3C2	2976	broad.mit.edu	37	chr2	27559092	27559093	+	Frame_Shift_Ins	INS	-	-	C													ttgctgcaaggtcccaaggcINScccagagctggagcagccca							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:27559091_27559092G>GC	uc002rju.1	-	7	1758_1759	c.1361_1362C>GC	c.(1360-1362)ggcfs	p.G454fs	GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rjv.1_Frame_Shift_Ins_p.G443fs|GTF3C2_uc002rjw.1_Frame_Shift_Ins_p.G443fs|GTF3C2_uc010eyz.2_Frame_Shift_Ins_p.G443fs|LOC100505624_uc002rjy.2_Intron	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA.	443						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTCCCAAGGCCCCAGAGCTG	0.594													C	27559093	-	C	27559092	7	5	8	1	0	1	1	0	0	0	0	0	6873	739	26	0	1455	0	GTF3C2	2	27559092	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	1355707	27559092	215640281	181	7203											
GTF3C2	2976	broad.mit.edu	37	chr2	27566374	27566374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacagtcatgttccccacGgggccggcctcccccagggc	11	19	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:27566374G>A	uc002rjv.1	-	3	411	c.48C>T	c.(46-48)CCC>CCT	p.P16P	GTF3C2_uc002rju.1_Silent_p.P27P|GTF3C2_uc002rjw.1_Silent_p.P16P|GTF3C2_uc010eyz.1_Silent_p.P16P	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	16						transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTTCCCCACGGGGCCGGCCT	0.557													A	27566374	G	A	27566374	2	1	8	1	0	0	0	0	0	0	0	1	6873	1103	39	1		1	GTF3C2	2	27566374	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	7282	27566374	215632999	182	7204											
PPM1G	5496	broad.mit.edu	37	chr2	27607889	27607889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgacagttctgcccgtagCgtgtcagcagctcttcaata	10	11	4	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:27607889C>T	uc002rkl.2	-	6	583	c.476G>A	c.(475-477)CGC>CAC	p.R159H	PPM1G_uc002rkm.2_Missense_Mutation_p.R9H	NM_002707	NP_002698	O15355	PPM1G_HUMAN	protein phosphatase 1G	159					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					CTGCCCGTAGCGTGTCAGCAG	0.592													T	27607889	C	T	27607889	3	4	8	1	0	0	0	0	1	0	0	0	12340	768	27	1	1188	1	PPM1G	2	27607889	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	41515	27607889	215591484	183	7205											
BIRC6	57448	broad.mit.edu	37	chr2	32768566	32768568	+	In_Frame_Del	DEL	CTT	CTT	-													agagaaaacatgcccagtgcCttcttcgattggtattggga							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:32768565_32768567CCTT>C	uc010ezu.3	+	61	12683_12685	c.12549_12551CCTT>C	c.(12547-12552)tgcctt>tgCt	p.L4185del		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4185					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATGCCCAGTGCCTTCTTCGATTG	0.419													-	32768568	CTT	-	32768566	7	5	8	1	0	1	0	1	0	0	0	0	1438	681	24	0	12796	0	BIRC6	2	32768566	In_Frame_Del	DEL	CTT	TCGA-BR-4201-01A-01D-1126-08	5160677	32768566	210430807	184	7206											
FAM98A	25940	broad.mit.edu	37	chr2	33810305	33810305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcggccaccatggtcataGccaccacgtccacctctccc	6	21	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:33810305G>A	uc002rpa.1	-	8	1169	c.1095C>T	c.(1093-1095)GGC>GGT	p.G365G	FAM98A_uc010yne.1_Silent_p.G170G|FAM98A_uc010ynd.1_Silent_p.G196G|FAM98A_uc002roz.1_Silent_p.G203G	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	hypothetical protein LOC25940	366	Gly-rich.									ovary(1)	1	all_hematologic(175;0.115)					CATGGTCATAGCCACCACGTC	0.577													A	33810305	G	A	33810305	2	1	8	1	0	0	0	0	0	0	0	1	5656	958	34	2		2	FAM98A	2	33810305	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1041739	33810305	209389068	185	7207											
CRIM1	51232	broad.mit.edu	37	chr2	36749338	36749338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagtcctggaagcctgaCgtttgtaccagctgcatctg	12	11	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:36749338C>T	uc002rpd.2	+	13	2349	c.2310C>T	c.(2308-2310)GAC>GAT	p.D770D		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	770	Extracellular (Potential).|VWFC 5.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GGAAGCCTGACGTTTGTACCA	0.468													T	36749338	C	T	36749338	2	4	8	1	0	0	0	0	0	0	0	1	3873	535	19	1		1	CRIM1	2	36749338	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2939033	36749338	206450035	186	7208											
THADA	63892	broad.mit.edu	37	chr2	43799004	43799004	+	Splice_Site	DEL	A	A	-													taatgtatctatccttacctAaaaaacatcaagcaataaaa							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:43799003_43799003TA>T	uc002rsw.4	-	13	2261	c.1909_splice	c.e13-1	p.V637_splice	THADA_uc010far.3_5'Flank|THADA_uc002rsx.4_Splice_Site_p.V637_splice|THADA_uc002rsy.4_Splice_Site|THADA_uc010fas.1_Splice_Site|THADA_uc002rsz.3_Splice_Site_p.V347_splice|THADA_uc010fat.1_5'Flank|THADA_uc002rta.2_Splice_Site_p.V347_splice|THADA_uc002rtb.1_Splice_Site_p.V637_splice|THADA_uc002rtc.4_Splice_Site_p.V637_splice|THADA_uc002rtd.3_Splice_Site_p.V637_splice	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	637							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATCCTTACCTAAAAAACATC	0.318													-	43799004	A	-	43799004	8	5	8	1	0	1	0	1	0	0	1	0	15837	377	13	0		0	THADA	2	43799004	Splice_Site	DEL	A	TCGA-BR-4201-01A-01D-1126-08	7049666	43799004	199400369	187	7209											
FSHR	2492	broad.mit.edu	37	chr2	49190038	49190038	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catagcagccacacttgctcAgcagaatgaagaaatctctg	8	11	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:49190038A>G	uc002rww.2	-	10	1996	c.1922T>C	c.(1921-1923)CTG>CCG	p.L641P	FSHR_uc002rwx.2_Missense_Mutation_p.L579P|FSHR_uc010fbn.2_Missense_Mutation_p.L615P	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	641	Cytoplasmic (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	ACACTTGCTCAGCAGAATGAA	0.458									Gonadal_Dysgenesis_46_XX				G	49190038	A	G	49190038	3	3	8	1	0	0	0	0	1	0	0	0	6073	188	7	3	169	3	FSHR	2	49190038	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	5391034	49190038	194009335	188	7210											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	8	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-BR-4201-01A-01D-1126-08	4977102	54167140	189032233	189	7211											
CCDC88A	55704	broad.mit.edu	37	chr2	55544436	55544436	+	Frame_Shift_Del	DEL	T	T	-													ttcctgttctactttgagcaTtttttccaaatcttccaact							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:55544435_55544435AT>A	uc002ryv.2	-	20	4492	c.3650_3650AT>T	c.(3649-3651)atgfs	p.M1217fs	CCDC88A_uc010ypa.1_Frame_Shift_Del_p.M1217fs|CCDC88A_uc010yoz.1_Frame_Shift_Del_p.M1218fs|CCDC88A_uc002ryu.2_Frame_Shift_Del_p.M500fs|CCDC88A_uc002rys.3_Frame_Shift_Del_p.M203fs|CCDC88A_uc002ryw.3_Frame_Shift_Del_p.M501fs|CCDC88A_uc010fby.1_Frame_Shift_Del_p.M97fs	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	1218					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.E1216G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TACTTTGAGCATTTTTTCCAA	0.299													-	55544436	T	-	55544436	7	5	8	1	0	1	0	1	0	0	0	0	2863	1493	52	0	2011	0	CCDC88A	2	55544436	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	1377296	55544436	187654937	190	7212											
KIAA1841	84542	broad.mit.edu	37	chr2	61304296	61304296	+	Splice_Site	DEL	A	A	-													gtgagatgcccactttaggtAaaaaacaatctgttgcttaa							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:61304295_61304295TA>T	uc002saw.4	+	6	973	c.670_splice	c.e6+2	p.E224_splice	KIAA1841_uc002sax.4_Splice_Site_p.E78_splice|KIAA1841_uc002say.3_Splice_Site_p.E224_splice|KIAA1841_uc002sav.4_Splice_Site_p.E224_splice	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA.	224										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			CCACTTTAGGTAAAAAACAAT	0.358													-	61304296	A	-	61304296	8	5	8	1	0	1	0	1	0	0	1	0	8261	377	13	0		0	KIAA1841	2	61304296	Splice_Site	DEL	A	TCGA-BR-4201-01A-01D-1126-08	5759860	61304296	181895077	191	7213											
USP34	9736	broad.mit.edu	37	chr2	61415812	61415812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcatcactgctaacacGccgccttttaatgggagttg	8	13	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:61415812G>A	uc002sbe.2	-	80	10088	c.10066C>T	c.(10066-10068)CGT>TGT	p.R3356C	USP34_uc002sbd.2_Missense_Mutation_p.R158C	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	3356					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R3356P(1)		ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			CTGCTAACACGCCGCCTTTTA	0.478													A	61415812	G	A	61415812	3	1	8	1	0	0	0	0	1	0	0	0	17062	1087	38	1	578	1	USP34	2	61415812	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	111516	61415812	181783561	192	7214											
USP34	9736	broad.mit.edu	37	chr2	61508298	61508298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccaatagcagaaaagaaCgattgattgagtctcctcca	8	10	1	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:61508298C>T	uc002sbe.2	-	38	5100	c.5078G>A	c.(5077-5079)CGT>CAT	p.R1693H	USP34_uc002sbf.2_5'Flank	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	1693					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			CAGAAAAGAACGATTGATTGA	0.408													T	61508298	C	T	61508298	3	4	8	1	0	0	0	0	1	0	0	0	17062	536	19	1	5734	1	USP34	2	61508298	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	92486	61508298	181691075	193	7215											
FAM161A	84140	broad.mit.edu	37	chr2	62066719	62066719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatctgcttcgatgtctgCcaaaattttttctcttttaa	4	9	4	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:62066719C>T	uc010ypo.1	-	3	1522	c.1420G>A	c.(1420-1422)GCA>ACA	p.A474T	FAM161A_uc002sbm.3_Missense_Mutation_p.A474T|FAM161A_uc002sbn.3_Missense_Mutation_p.A284T|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Missense_Mutation_p.A365T	NM_032180	NP_115556	Q3B820	F161A_HUMAN	hypothetical protein LOC84140	474					response to stimulus|visual perception	centrosome				large_intestine(2)|ovary(1)	3						TCGATGTCTGCCAAAATTTTT	0.388													T	62066719	C	T	62066719	3	4	8	1	0	0	0	0	1	0	0	0	5472	739	26	2	578	2	FAM161A	2	62066719	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	558421	62066719	181132654	194	7216											
CCT4	10575	broad.mit.edu	37	chr2	62099411	62099411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattcagttaatcgtagggCcaactctatttctggagcac	8	9	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:62099411C>T	uc002sbo.2	-	12	1446	c.1297G>A	c.(1297-1299)GCC>ACC	p.A433T	CCT4_uc010ypp.1_Missense_Mutation_p.A377T|CCT4_uc010ypq.1_Missense_Mutation_p.A283T|CCT4_uc010ypr.1_Missense_Mutation_p.A377T|CCT4_uc010yps.1_Missense_Mutation_p.A403T	NM_006430	NP_006421	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	433					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			ovary(2)	2	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			AATCGTAGGGCCAACTCTATT	0.373													T	62099411	C	T	62099411	3	4	8	1	0	0	0	0	1	0	0	0	2955	739	26	2	334	2	CCT4	2	62099411	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	32692	62099411	181099962	195	7217											
EHBP1	23301	broad.mit.edu	37	chr2	62991424	62991424	+	Frame_Shift_Del	DEL	A	A	-													catagctggcaacctggaatAaaaaatccctatcgtggtgt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:62991423_62991423TA>T	uc002sby.3	+	3	667	c.185_185TA>T	c.(184-186)atafs	p.I62fs	EHBP1_uc010fcp.3_Frame_Shift_Del_p.I62fs|EHBP1_uc010fcq.1_Frame_Shift_Del_p.I62fs|EHBP1_uc002sbx.2_Frame_Shift_Del_p.I62fs|EHBP1_uc002sbz.3_Frame_Shift_Del_p.I62fs|EHBP1_uc002scb.3_Frame_Shift_Del_p.I62fs|EHBP1_uc002sca.3_Frame_Shift_Del_p.I62fs	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	62						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			CAACCTGGAATAAAAAATCCC	0.343													-	62991424	A	-	62991424	7	5	8	1	0	1	0	1	0	0	0	0	4975	352	13	0	196	0	EHBP1	2	62991424	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	892013	62991424	180207949	196	7218											
SPRED2	200734	broad.mit.edu	37	chr2	65571870	65571870	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccagtttgtctttctgtcGttcaccatggatgagaaagc	9	9	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:65571870G>A	uc002sdr.3	-	2	722	c.187C>T	c.(187-189)CGA>TGA	p.R63*	SPRED2_uc010fcw.2_Nonsense_Mutation_p.R60*|SPRED2_uc010fcx.1_RNA	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	63	WH1.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3						TCTTTCTGTCGTTCACCATGG	0.478													A	65571870	G	A	65571870	4	1	8	1	0	0	0	0	0	1	0	0	15092	1153	40	1	1089	1	SPRED2	2	65571870	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2580446	65571870	177627503	197	7219											
PPP3R1	5534	broad.mit.edu	37	chr2	68408114	68408114	+	Frame_Shift_Del	DEL	T	T	-													gtcacacatctaccaccatcTttttgtggatatctaggcca							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:68408113_68408113CT>C	uc002sei.1	-	5	887	c.495_495AG>G	c.(493-495)aagfs	p.K165fs		NM_000945	NP_000936	P63098	CANB1_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, alpha (PPP3R1), mRNA.	165					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding			large_intestine(1)	1					Pimecrolimus(DB00337)	CTACCACCATCTTTTTGTGGA	0.448													-	68408114	T	-	68408114	7	5	8	1	0	1	0	1	0	0	0	0	12400	1609	56	0	22	0	PPP3R1	2	68408114	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	2836244	68408114	174791259	198	7220											
ARHGAP25	9938	broad.mit.edu	37	chr2	69015041	69015041	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctctcaggcggagatggAggagtgggttaaattcctca	14	8	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:69015041A>G	uc002seu.2	+	4	783	c.419A>G	c.(418-420)GAG>GGG	p.E140G	ARHGAP25_uc010yqk.1_Missense_Mutation_p.E114G|ARHGAP25_uc010fdg.2_Missense_Mutation_p.E140G|ARHGAP25_uc010yql.1_Intron|ARHGAP25_uc002sev.2_Missense_Mutation_p.E133G|ARHGAP25_uc002sew.2_Missense_Mutation_p.E133G|ARHGAP25_uc002sex.2_Missense_Mutation_p.E133G|ARHGAP25_uc010fdh.1_RNA	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	140	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						GCGGAGATGGAGGAGTGGGTT	0.547													G	69015041	A	G	69015041	3	3	8	1	0	0	0	0	1	0	0	0	874	304	11	3	473	3	ARHGAP25	2	69015041	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	606927	69015041	174184332	199	7221											
C2orf42	54980	broad.mit.edu	37	chr2	70406777	70406777	+	Splice_Site	DEL	A	A	-													caataatctctttaagacctAaaaaaaagaagatttctgaa							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:70406776_70406776TA>T	uc002sgh.3	-	4	1152	c.824_splice	c.e4-1	p.G275_splice		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	275										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CTTTAAGACCTAAAAAAAAGA	0.353													-	70406777	A	-	70406777	8	5	8	1	0	1	0	1	0	0	1	0	2166	377	13	0		0	C2orf42	2	70406777	Splice_Site	DEL	A	TCGA-BR-4201-01A-01D-1126-08	1391736	70406777	172792596	200	7222											
ZNF638	27332	broad.mit.edu	37	chr2	71649954	71649954	+	Frame_Shift_Del	DEL	A	A	-													atacttttagccctggcttgAaaaacagtccaattgatgaa							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:71649953_71649953GA>G	uc002shx.3	+	21	3632	c.3309_3309GA>G	c.(3307-3309)ttgfs	p.L1103fs	ZNF638_uc010yqw.1_Frame_Shift_Del_p.L682fs|ZNF638_uc002shz.3_Frame_Shift_Del_p.L1103fs|ZNF638_uc002shy.3_Frame_Shift_Del_p.L1103fs|ZNF638_uc002sia.3_Frame_Shift_Del_p.L1103fs|ZNF638_uc002sib.1_Intron|ZNF638_uc002sic.3_Frame_Shift_Del_p.L200fs|ZNF638_uc002sid.3_Intron	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	1103	Glu-rich.				RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GCCCTGGCTTGAAAAACAGTC	0.333													-	71649954	A	-	71649954	7	5	8	1	0	1	0	1	0	0	0	0	18052	247	9	0	3392	0	ZNF638	2	71649954	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	1243177	71649954	171549419	201	7223											
DYSF	8291	broad.mit.edu	37	chr2	71755438	71755438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcccagtggacgatgcCgtgatggacaacgtgaaaca	11	11	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:71755438C>T	uc002sie.2	+	13	1567	c.1191C>T	c.(1189-1191)GCC>GCT	p.A397A	DYSF_uc010feg.2_Silent_p.A428A|DYSF_uc010feh.2_Silent_p.A397A|DYSF_uc002sig.3_Silent_p.A397A|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.A397A|DYSF_uc010fef.2_Silent_p.A428A|DYSF_uc010fei.2_Silent_p.A428A|DYSF_uc010fek.2_Silent_p.A429A|DYSF_uc010fej.2_Silent_p.A398A|DYSF_uc010fel.2_Silent_p.A398A|DYSF_uc010feo.2_Silent_p.A429A|DYSF_uc010fem.2_Silent_p.A398A|DYSF_uc010fen.2_Silent_p.A429A|DYSF_uc002sif.2_Silent_p.A398A	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	397	Cytoplasmic (Potential).|C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						TGGACGATGCCGTGATGGACA	0.542													T	71755438	C	T	71755438	2	4	8	1	0	0	0	0	0	0	0	1	4859	639	23	1		1	DYSF	2	71755438	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	105484	71755438	171443935	202	7224											
ALMS1	7840	broad.mit.edu	37	chr2	73651726	73651726	+	Frame_Shift_Del	DEL	T	T	-													gctgttgggtctcagtgcccTtttttaccttctgaacaagg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:73651725_73651725CT>C	uc002sje.1	+	4	1043	c.932_932CT>C	c.(931-933)cctfs	p.P311fs	ALMS1_uc002sjf.1_Frame_Shift_Del_p.P269fs	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	311					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCTCAGTGCCCTTTTTTACCT	0.433													-	73651726	T	-	73651726	7	5	8	1	0	1	0	1	0	0	0	0	535	1596	56	0	951	0	ALMS1	2	73651726	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	1896288	73651726	169547647	203	7225											
ALMS1	7840	broad.mit.edu	37	chr2	73717248	73717248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcactttttcatctcaccGacattctaaatgcatttcca	2	13	4	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:73717248G>A	uc002sje.1	+	12	8276	c.8165G>A	c.(8164-8166)CGA>CAA	p.R2722Q	ALMS1_uc002sjf.1_Missense_Mutation_p.R2678Q|ALMS1_uc002sjg.2_Missense_Mutation_p.R2108Q|ALMS1_uc002sjh.1_Missense_Mutation_p.R2108Q	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2720					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						TCATCTCACCGACATTCTAAA	0.408													A	73717248	G	A	73717248	3	1	8	1	0	0	0	0	1	0	0	0	535	1058	37	1	8197	1	ALMS1	2	73717248	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	65522	73717248	169482125	204	7226											
SLC4A5	57835	broad.mit.edu	37	chr2	74451994	74451994	+	Frame_Shift_Del	DEL	T	T	-													tcacagtcctcgtgggccccTttttttctcttcctcttctt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:74451993_74451993CT>C	uc002sko.1	-	23	3270	c.3268_3268AG>G	c.(3268-3270)gggfs	p.G1090fs	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Frame_Shift_Del_p.G1074fs|SLC4A5_uc010ffc.1_Frame_Shift_Del_p.G993fs|SLC4A5_uc002skp.1_Frame_Shift_Del_p.G972fs|SLC4A5_uc002sks.1_Frame_Shift_Del_p.K981fs	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	1090						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCGTGGGCCCCTTTTTTTCTC	0.517													-	74451994	T	-	74451994	7	5	8	1	0	1	0	1	0	0	0	0	14657	1606	56	0	158	0	SLC4A5	2	74451994	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	734746	74451994	168747379	205	7227											
C2orf89	129293	broad.mit.edu	37	chr2	85097639	85097639	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgagcttgacatactccaGgtggcgcttgaggcggcagt	14	10	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:85097639G>T	uc010ysl.1	-	2	468	c.379C>A	c.(379-381)CTG>ATG	p.L127M	C2orf89_uc002sou.3_Missense_Mutation_p.L127M|C2orf89_uc010fgc.1_Missense_Mutation_p.L127M	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	hypothetical protein LOC129293 precursor	127	Extracellular (Potential).					integral to membrane				ovary(1)	1						ACATACTCCAGGTGGCGCTTG	0.572													T	85097639	G	T	85097639	3	4	8	1	0	0	0	0	1	0	0	0	2203	991	35	5	1011	5	C2orf89	2	85097639	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	10645645	85097639	158101734	206	7228											
C2orf68	388969	broad.mit.edu	37	chr2	85836566	85836566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaggcgtacctgatagaCgataactgatgtgacctctc	9	12	1	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:85836566C>T	uc002sqc.2	-	3	442	c.370G>A	c.(370-372)GTC>ATC	p.V124I	USP39_uc002sqb.2_Intron|USP39_uc010ysu.1_5'Flank|USP39_uc010ysv.1_5'Flank	NM_001013649	NP_001013671	Q2NKX9	CB068_HUMAN	hypothetical protein LOC388969	124										central_nervous_system(1)	1						ACCTGATAGACGATAACTGAT	0.542													T	85836566	C	T	85836566	3	4	8	1	0	0	0	0	1	0	0	0	2187	536	19	1	138	1	C2orf68	2	85836566	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	738927	85836566	157362807	207	7229											
KDM3A	55818	broad.mit.edu	37	chr2	86705121	86705121	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggagtatgtgtggactgCtaccggatgaagagaaagaa	14	4	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:86705121C>T	uc002sri.3	+	13	2388	c.2061C>T	c.(2059-2061)TGC>TGT	p.C687C	KDM3A_uc010ytj.1_Silent_p.C687C|KDM3A_uc010ytk.1_Silent_p.C635C	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	687	C6-type (Potential).				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						GTGTGGACTGCTACCGGATGA	0.473													T	86705121	C	T	86705121	2	4	8	1	0	0	0	0	0	0	0	1	8126	805	28	2		2	KDM3A	2	86705121	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	868555	86705121	156494252	208	7230											
TEKT4	150483	broad.mit.edu	37	chr2	95542378	95542378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagcggagcagtccctgcGcaacctcgaggacatccaca	11	14	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:95542378G>A	uc002stw.1	+	6	1265	c.1172G>A	c.(1171-1173)CGC>CAC	p.R391H	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	391	Potential.				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3						CAGTCCCTGCGCAACCTCGAG	0.592													A	95542378	G	A	95542378	3	1	8	1	0	0	0	0	1	0	0	0	15752	1087	38	1	1194	1	TEKT4	2	95542378	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	8837257	95542378	147656995	209	7231											
STARD7	56910	broad.mit.edu	37	chr2	96859067	96859067	+	Frame_Shift_Del	DEL	T	T	-													ttgattaccagggcatcccaTttttttctatactctgtgtc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:96859066_96859066AT>A	uc002svm.4	-	3	975	c.574_574AT>T	c.(574-576)tggfs	p.W192fs	STARD7_uc002svl.3_5'UTR	NM_020151	NP_064536	Q9NQZ5	STAR7_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 7 (STARD7), mRNA.	192	START.					mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						AGGGCATCCCATTTTTTTCTA	0.433													-	96859067	T	-	96859067	7	5	8	1	0	1	0	1	0	0	0	0	15261	1490	52	0	559	0	STARD7	2	96859067	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	1316689	96859067	146340306	210	7232											
CNNM4	26504	broad.mit.edu	37	chr2	97475139	97475139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccatagacgggtgcaccaCccacatggagaacttggccg	11	14	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:97475139C>T	uc002swx.2	+	7	2311	c.2213C>T	c.(2212-2214)ACC>ATC	p.T738I	CNNM4_uc010yuy.1_Silent_p.H254H	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	cyclin M4	738					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|ovary(1)	3						GGGTGCACCACCCACATGGAG	0.572													T	97475139	C	T	97475139	3	4	8	1	0	0	0	0	1	0	0	0	3615	507	18	4	2239	4	CNNM4	2	97475139	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	616072	97475139	145724234	211	7233											
FAHD2B	151313	broad.mit.edu	37	chr2	97749725	97749725	+	Frame_Shift_Del	DEL	G	G	-													tcctgaatacaccgacacctGggggggtcccagttaggatg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:97749725delG	uc002sxm.2	-	7	993	c.842delC	c.(841-843)CCAfs	p.P281fs		NM_199336	NP_955368	Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing	281							hydrolase activity|metal ion binding				0						ACCGACACCTGGGGGGGTCCC	0.552													-	97749725	G	-	97749725	7	5	8	1	0	1	0	1	0	0	0	0	5374	1348	47	0	110	0	FAHD2B	2	97749725	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	274586	97749725	145449648	212	7234											
VWA3B	200403	broad.mit.edu	37	chr2	98928714	98928714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctaggactcagcagccacGccatcattgccacacctcca	7	17	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:98928714G>A	uc002syo.2	+	28	4051	c.3787G>A	c.(3787-3789)GCC>ACC	p.A1263T	VWA3B_uc002syr.1_3'UTR|VWA3B_uc002sys.2_RNA	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1263										ovary(3)|large_intestine(2)|skin(1)	6						CAGCAGCCACGCCATCATTGC	0.597													A	98928714	G	A	98928714	3	1	8	1	0	0	0	0	1	0	0	0	17238	1087	38	1	3893	1	VWA3B	2	98928714	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1178989	98928714	144270659	213	7235											
CNGA3	1261	broad.mit.edu	37	chr2	98994199	98994199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgctgcagccggggatcGccatggagaccagaggactg	16	11	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:98994199G>A	uc002syt.2	+	3	568	c.151G>A	c.(151-153)GCC>ACC	p.A51T	CNGA3_uc002syu.2_Missense_Mutation_p.A51T|CNGA3_uc010fij.2_5'UTR	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	51					signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						GCCGGGGATCGCCATGGAGAC	0.587													A	98994199	G	A	98994199	3	1	8	1	0	0	0	0	1	0	0	0	3598	1087	38	1	157	1	CNGA3	2	98994199	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	65485	98994199	144205174	214	7236											
MITD1	129531	broad.mit.edu	37	chr2	99785865	99785865	+	Frame_Shift_Del	DEL	A	A	-													ttttttgtatgcttcttatgAaaaatgtctactgttgtttc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:99785864_99785864GA>G	uc002szs.1	-	6	772	c.724_724TC>C	c.(724-726)catfs	p.H242fs	MRPL30_uc002szl.1_Intron|MRPL30_uc002szr.3_Intron	NM_138798	NP_620153	Q8WV92	MITD1_HUMAN	Homo sapiens MIT, microtubule interacting and transport, domain containing 1 (MITD1), mRNA.	242					protein transport	late endosome membrane				large_intestine(3)|lung(2)|ovary(1)	6						TGCTTCTTATGAAAAATGTCT	0.274													-	99785865	A	-	99785865	7	5	8	1	0	1	0	1	0	0	0	0	9595	243	9	0	30	0	MITD1	2	99785865	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	791666	99785865	143413508	215	7237											
FHL2	2274	broad.mit.edu	37	chr2	106002900	106002900	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcacaccacgcagtaggggCtctcctcccgcaggatgtac	11	15	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:106002900C>A	uc002tcu.2	-	2	411	c.74G>T	c.(73-75)AGC>ATC	p.S25I	FHL2_uc002tdc.2_5'UTR|FHL2_uc002tdd.2_Missense_Mutation_p.S25I|FHL2_uc002tcv.2_Missense_Mutation_p.S25I|FHL2_uc002tcw.2_Missense_Mutation_p.S25I|FHL2_uc002tcx.2_Missense_Mutation_p.S25I|FHL2_uc010fje.2_5'UTR|FHL2_uc002tcy.2_Missense_Mutation_p.S25I|FHL2_uc002tcz.2_Missense_Mutation_p.S135I|FHL2_uc002tda.2_RNA|FHL2_uc002tdb.2_Missense_Mutation_p.S141I|FHL2_uc002tde.1_Missense_Mutation_p.S118I	NM_201557	NP_963851	Q14192	FHL2_HUMAN	four and a half LIM domains 2	25	C4-type (Potential).				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			ovary(1)	1						GCAGTAGGGGCTCTCCTCCCG	0.562													A	106002900	C	A	106002900	3	1	8	1	0	0	0	0	1	0	0	0	5879	797	28	5	785	5	FHL2	2	106002900	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	6217035	106002900	137196473	216	7238											
GCC2	9648	broad.mit.edu	37	chr2	109087884	109087884	+	Frame_Shift_Del	DEL	A	A	-													aaacaataaactcagttcagAaaaaaaacagttgagtaggg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:109087883_109087883GA>G	uc002tec.3	+	5	2252	c.2098_2098GA>G	c.(2098-2100)gaafs	p.E700fs	GCC2_uc002ted.3_Frame_Shift_Del_p.E599fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	700					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACA	0.308													-	109087884	A	-	109087884	7	5	8	1	0	1	0	1	0	0	0	0	6286	246	9	0	2121	0	GCC2	2	109087884	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	3084984	109087884	134111489	217	7239											
GCC2	9648	broad.mit.edu	37	chr2	109088540	109088540	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactagaacaaaaagaattaCgagataggagagcagagttg	11	4	0	5			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:109088540C>T	uc002tec.2	+	6	2909	c.2755C>T	c.(2755-2757)CGA>TGA	p.R919*	GCC2_uc002ted.2_Nonsense_Mutation_p.R818*	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	919	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						AAAAGAATTACGAGATAGGAG	0.279													T	109088540	C	T	109088540	4	4	8	1	0	0	0	0	0	1	0	0	6286	528	19	1	2777	1	GCC2	2	109088540	Nonsense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	656	109088540	134110833	218	7240											
BUB1	699	broad.mit.edu	37	chr2	111430296	111430296	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttttgaattcctctctgaaGgacagcactggcatgctgca	10	10	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:111430296G>T	uc002tgc.2	-	4	476	c.364C>A	c.(364-366)CTT>ATT	p.L122I	BUB1_uc010yxh.1_Missense_Mutation_p.L102I|BUB1_uc010fkb.2_Missense_Mutation_p.L122I|BUB1_uc002tgd.2_Missense_Mutation_p.L122I	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	122	BUB1 N-terminal.|Necessary for interaction with CASC5.|Necessary for kinetochore localization.			L->G: Loss of interaction with CASC5.	apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CCTCTCTGAAGGACAGCACTG	0.498													T	111430296	G	T	111430296	3	4	8	1	0	0	0	0	1	0	0	0	1570	1000	35	5	2981	5	BUB1	2	111430296	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2341756	111430296	131769077	219	7241											
ZC3H6	376940	broad.mit.edu	37	chr2	113080379	113080379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttttctgatcctgaagacGattttcagacagatttctct	6	10	3	5			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:113080379G>A	uc002thq.1	+	9	1634	c.1240G>A	c.(1240-1242)GAT>AAT	p.D414N		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	414	Pro-rich.						nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4						TCCTGAAGACGATTTTCAGAC	0.423													A	113080379	G	A	113080379	3	1	8	1	0	0	0	0	1	0	0	0	17568	1058	37	1	1274	1	ZC3H6	2	113080379	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1650083	113080379	130118994	220	7242											
SLC20A1	6574	broad.mit.edu	37	chr2	113414767	113414767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggatgtgcagttttctgtGcccttatcgtctggttcttt	11	8	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:113414767G>A	uc002tib.2	+	6	1173	c.727G>A	c.(727-729)GCC>ACC	p.A243T	SLC20A1_uc002tic.1_Missense_Mutation_p.A55T	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate	243	Helical; (Potential).				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			ovary(2)	2						AGTTTTCTGTGCCCTTATCGT	0.413													A	113414767	G	A	113414767	3	1	8	1	0	0	0	0	1	0	0	0	14438	1319	46	2	745	2	SLC20A1	2	113414767	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	334388	113414767	129784606	221	7243											
DPP10	57628	broad.mit.edu	37	chr2	116525877	116525877	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctgtattttagaatgAggagcccgtgttttctagag	10	7	3	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:116525877A>G	uc002tla.1	+	13	1575	c.1118A>G	c.(1117-1119)GAG>GGG	p.E373G	DPP10_uc002tlb.1_Missense_Mutation_p.E323G|DPP10_uc002tlc.1_Missense_Mutation_p.E369G|DPP10_uc002tle.2_Missense_Mutation_p.E377G|DPP10_uc002tlf.1_Missense_Mutation_p.E366G	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	373	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						TTTTAGAATGAGGAGCCCGTG	0.438													G	116525877	A	G	116525877	3	3	8	1	0	0	0	0	1	0	0	0	4727	304	11	3	1339	3	DPP10	2	116525877	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	3111110	116525877	126673496	222	7244											
CNTNAP5	129684	broad.mit.edu	37	chr2	125405387	125405387	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatacagagctgacccgagtGcggggcgctaaccctgagaa	13	11	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:125405387G>A	uc002tno.2	+	13	2290	c.1926G>A	c.(1924-1926)GTG>GTA	p.V642V	CNTNAP5_uc010flu.2_Silent_p.V643V	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	642	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGACCCGAGTGCGGGGCGCTA	0.562													A	125405387	G	A	125405387	2	1	8	1	0	0	0	0	0	0	0	1	3650	1306	46	2		2	CNTNAP5	2	125405387	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	8879510	125405387	117793986	223	7245											
WDR33	55339	broad.mit.edu	37	chr2	128466300	128466300	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggggcctccatctctctGtgctcagaagtgcctgggcc	12	15	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:128466300G>A	uc002tpg.1	-	21	3915	c.3732C>T	c.(3730-3732)CAC>CAT	p.H1244H		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	1244					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CCATCTCTCTGTGCTCAGAAG	0.607													A	128466300	G	A	128466300	2	1	8	1	0	0	0	0	0	0	0	1	17284	1368	48	4		4	WDR33	2	128466300	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3060913	128466300	114733073	224	7246											
UGGT1	56886	broad.mit.edu	37	chr2	128867265	128867267	+	In_Frame_Del	DEL	AAG	AAG	-													cgtttttttcagtgcatggaAagaagacttgtgaatctgat							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:128867264_128867266AAAG>A	uc002tps.3	+	4	643_645	c.465_467AAAG>A	c.(463-468)ggaaag>ggAg	p.K157del	UGGT1_uc010fme.1_In_Frame_Del_p.K32del|UGGT1_uc002tpr.3_In_Frame_Del_p.K133del	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	157					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAGTGCATGGAAAGAAGACTTGT	0.379													-	128867267	AAG	-	128867265	7	5	8	1	0	1	0	1	0	0	0	0	16938	15	1	0	484	0	UGGT1	2	128867265	In_Frame_Del	DEL	AAG	TCGA-BR-4201-01A-01D-1126-08	400965	128867265	114332108	225	7247											
UBXN4	23190	broad.mit.edu	37	chr2	136540365	136540365	+	Frame_Shift_Del	DEL	A	A	-													aaaaacgtggagacgactttAaaaaggaggggaaaatttat							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:136540364_136540364TA>T	uc002tur.3	+	12	1745	c.1434_1434TA>T	c.(1432-1434)tttfs	p.F478fs	UBXN4_uc002tus.3_Frame_Shift_Del_p.F244fs|UBXN4_uc002tut.3_Frame_Shift_Del_p.F114fs	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	Homo sapiens UBX domain protein 4 (UBXN4), mRNA.	478					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	p.D477E(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						GAGACGACTTTAAAAAGGAGG	0.378													-	136540365	A	-	136540365	7	5	8	1	0	1	0	1	0	0	0	0	16913	363	13	0	1485	0	UBXN4	2	136540365	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	7673100	136540365	106659008	226	7248											
LCT	3938	broad.mit.edu	37	chr2	136547334	136547335	+	Frame_Shift_Del	DEL	TG	TG	-													ttgtccatcgcactccaaacTgtgtatcctcgaaggtccac							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:136547333_136547334CTG>C	uc002tuu.1	-	15	5381_5382	c.5370_5371CAG>G	c.(5368-5373)acagttfs	p.T1790fs		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1790	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCACTCCAAACTGTGTATCCTC	0.5													-	136547335	TG	-	136547334	7	5	8	1	0	1	0	1	0	0	0	0	8693	1567	55	0	421	0	LCT	2	136547334	Frame_Shift_Del	DEL	TG	TCGA-BR-4201-01A-01D-1126-08	6969	136547334	106652039	227	7249											
LRP1B	53353	broad.mit.edu	37	chr2	141200145	141200145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagcttggaaatgcaatGcttcgtagtcttacactgga	9	10	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:141200145G>A	uc002tvj.1	-	66	11314	c.10342C>T	c.(10342-10344)CAT>TAT	p.H3448Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3448	Extracellular (Potential).|LDL-receptor class A 24.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAAATGCAATGCTTCGTAGTC	0.433										TSP Lung(27;0.18)			A	141200145	G	A	141200145	3	1	8	1	0	0	0	0	1	0	0	0	8955	1319	46	2	3561	2	LRP1B	2	141200145	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4652811	141200145	101999228	228	7250											
LYPD6B	130576	broad.mit.edu	37	chr2	150069635	150069635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccgagattctgaacataCggtaaggatcgtgtgtgtgt	13	7	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:150069635C>T	uc002twv.1	+	6	859	c.458C>T	c.(457-459)ACG>ATG	p.T153M	LYPD6B_uc002tww.1_Missense_Mutation_p.T115M|LYPD6B_uc002twx.1_Missense_Mutation_p.T115M	NM_177964	NP_808879	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	129	UPAR/Ly6.					anchored to membrane|plasma membrane					0						TCTGAACATACGGTAAGGATC	0.443													T	150069635	C	T	150069635	3	4	8	1	0	0	0	0	1	0	0	0	9115	550	19	1	476	1	LYPD6B	2	150069635	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	8869490	150069635	93129738	229	7251											
NEB	4703	broad.mit.edu	37	chr2	152501056	152501056	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaagatcgtaaccttttcTcttcagctcctcataaccca	5	13	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:152501056T>G	uc010fnx.2	-	56	7761	c.7570A>C	c.(7570-7572)AGA>CGA	p.R2524R		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2524					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAACCTTTTCTCTTCAGCTCC	0.383													G	152501056	T	G	152501056	2	3	8	1	0	0	0	0	0	0	0	1	10302	1559	54	5		5	NEB	2	152501056	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	2431421	152501056	90698317	230	7252											
KCNJ3	3760	broad.mit.edu	37	chr2	155555583	155555583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggcctggcttttcatggCgtccatgtggtgggtgatcg	16	9	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:155555583C>T	uc002tyv.1	+	1	491	c.296C>T	c.(295-297)GCG>GTG	p.A99V	KCNJ3_uc010zce.1_Missense_Mutation_p.A99V	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	99	Helical; Name=M1; (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	CTTTTCATGGCGTCCATGTGG	0.567													T	155555583	C	T	155555583	3	4	8	1	0	0	0	0	1	0	0	0	8052	768	27	1	298	1	KCNJ3	2	155555583	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	3054527	155555583	87643790	231	7253											
GPD2	2820	broad.mit.edu	37	chr2	157407127	157407127	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacagggcaggaatttgaCgtgagagccaaatgtgttat	12	6	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:157407127C>T	uc002tzf.3	+	8	1200	c.840C>T	c.(838-840)GAC>GAT	p.D280D	GPD2_uc010zch.1_Silent_p.D53D|GPD2_uc002tzd.3_Silent_p.D280D|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	280					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1						AGGAATTTGACGTGAGAGCCA	0.438													T	157407127	C	T	157407127	2	4	8	1	0	0	0	0	0	0	0	1	6606	535	19	1		1	GPD2	2	157407127	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1851544	157407127	85792246	232	7254											
CCDC148	130940	broad.mit.edu	37	chr2	159201729	159201729	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgtcccccagttcttacctGacttcattcagcctctggta	6	14	4	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:159201729G>A	uc002tzq.2	-	3	512	c.249C>T	c.(247-249)GTC>GTT	p.V83V	CCDC148_uc002tzr.2_Intron|CCDC148_uc010foh.2_Intron|CCDC148_uc010foi.1_Silent_p.V30V|CCDC148_uc010foj.1_Intron|CCDC148_uc010fok.1_Intron|CCDC148_uc002tzs.1_Silent_p.V83V	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	83										ovary(2)	2						GTTCTTACCTGACTTCATTCA	0.368													A	159201729	G	A	159201729	2	1	8	1	0	0	0	0	0	0	0	1	2782	1277	45	4		4	CCDC148	2	159201729	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1794602	159201729	83997644	233	7255											
ITGB6	3694	broad.mit.edu	37	chr2	160993949	160993949	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaacatagcctacctccGcagagcagccctttgtgtct	7	14	2	1	rs139038668		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:160993949G>A	uc002ubh.2	-	10	1672	c.1656C>T	c.(1654-1656)TGC>TGT	p.C552C	ITGB6_uc010fou.2_Silent_p.C552C|ITGB6_uc010zcq.1_Silent_p.C510C|ITGB6_uc010fov.1_Silent_p.C552C	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6 precursor	552	Extracellular (Potential).|III.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3						GCCTACCTCCGCAGAGCAGCC	0.413													A	160993949	G	A	160993949	2	1	8	1	0	0	0	0	0	0	0	1	7899	1079	38	1		1	ITGB6	2	160993949	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1792220	160993949	82205424	234	7256											
IFIH1	64135	broad.mit.edu	37	chr2	163134716	163134717	+	Splice_Site	INS	-	-	T													ggtccaaacctaaattacctINStttttttccatttgaatggc					rs150760072		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:163134715_163134716C>CT	uc002uce.3	-	9	1987	c.1765_splice	c.e9+1	p.A589_splice		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	589					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CCTAAATTACCTTTTTTTTCCA	0.327													T	163134717	-	T	163134716	8	5	8	1	0	1	1	0	0	0	1	0	7520	1623	56	0	1345	0	IFIH1	2	163134716	Splice_Site	INS	-	TCGA-BR-4201-01A-01D-1126-08	2140767	163134716	80064657	235	7257											
FIGN	55137	broad.mit.edu	37	chr2	164466900	164466900	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcattccagtccactggaGgtccttgggtgataatctca	10	10	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:164466900G>T	uc002uck.1	-	3	1753	c.1442C>A	c.(1441-1443)CCT>CAT	p.P481H		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	481						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						GTCCACTGGAGGTCCTTGGGT	0.512													T	164466900	G	T	164466900	3	4	8	1	0	0	0	0	1	0	0	0	5891	1000	35	5	841	5	FIGN	2	164466900	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1332184	164466900	78732473	236	7258											
FIGN	55137	broad.mit.edu	37	chr2	164468132	164468133	+	Frame_Shift_Ins	INS	-	-	T													cggaatacttctctgcatatINSttttttagtaggttggatgc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:164468131_164468132A>AT	uc002uck.1	-	2	521_522	c.210_211T>AT	c.(208-213)aaatatfs	p.K70fs		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	70						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TTCTCTGCATATTTTTTTAGTA	0.48													T	164468133	-	T	164468132	7	5	8	1	0	1	1	0	0	0	0	0	5891	1490	52	0	2073	0	FIGN	2	164468132	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	1232	164468132	78731241	237	7259											
COBLL1	22837	broad.mit.edu	37	chr2	165557205	165557205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcagcttcaactttaggCacttcactcagttcttcctt	4	12	5	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:165557205C>T	uc010zcw.1	-	13	1726	c.1602G>A	c.(1600-1602)GTG>GTA	p.V534V	COBLL1_uc002ucp.2_Silent_p.V468V|COBLL1_uc002ucq.2_Silent_p.V429V|COBLL1_uc010zcx.1_Silent_p.V475V|COBLL1_uc002ucs.1_RNA|COBLL1_uc002ucn.2_5'Flank|COBLL1_uc002uco.2_Silent_p.V198V	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	506										ovary(2)|pancreas(1)	3						CAACTTTAGGCACTTCACTCA	0.333													T	165557205	C	T	165557205	2	4	8	1	0	0	0	0	0	0	0	1	3654	697	25	2		2	COBLL1	2	165557205	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1089073	165557205	77642168	238	7260											
SCN2A	6326	broad.mit.edu	37	chr2	166223735	166223735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatattttagactgtgtaCggaagttcaagtgttgtcag	10	6	2	1	rs115231482	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:166223735C>T	uc002udc.2	+	19	3819	c.3529C>T	c.(3529-3531)CGG>TGG	p.R1177W	SCN2A_uc002udd.2_Missense_Mutation_p.R1177W|SCN2A_uc002ude.2_Missense_Mutation_p.R1177W	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1177					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	AGACTGTGTACGGAAGTTCAA	0.348													T	166223735	C	T	166223735	3	4	8	1	0	0	0	0	1	0	0	0	13916	527	19	1	3695	1	SCN2A	2	166223735	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	666530	166223735	76975638	239	7261											
DHRS9	10170	broad.mit.edu	37	chr2	169952169	169952169	+	Frame_Shift_Del	DEL	A	A	-													aagactcattatgccgctggAaaagatgccaaaattttctg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:169952168_169952168GA>G	uc010zdc.2	+	4	1143	c.1031_1031GA>G	c.(1030-1032)ggafs	p.G344fs	DHRS9_uc002uep.3_Frame_Shift_Del_p.G284fs|DHRS9_uc002ueq.3_Frame_Shift_Del_p.G284fs|DHRS9_uc010zdd.2_Frame_Shift_Del_p.G284fs|DHRS9_uc010zde.2_Frame_Shift_Del_p.G284fs	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	284					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TATGCCGCTGGAAAAGATGCC	0.448													-	169952169	A	-	169952169	7	5	8	1	0	1	0	1	0	0	0	0	4498	233	9	0	866	0	DHRS9	2	169952169	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	3728434	169952169	73247204	240	7262											
UBR3	130507	broad.mit.edu	37	chr2	170806482	170806482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagtagaatgaacaaacGcatcattgaagagatatgta	9	5	1	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:170806482G>A	uc010zdi.1	+	23	3452	c.3452G>A	c.(3451-3453)CGC>CAC	p.R1151H	UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_5'UTR|UBR3_uc002uft.3_Missense_Mutation_p.R4H	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	E3 ubiquitin-protein ligase UBR3	1151					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0						ATGAACAAACGCATCATTGAA	0.373													A	170806482	G	A	170806482	3	1	8	1	0	0	0	0	1	0	0	0	16900	1087	38	1	3542	1	UBR3	2	170806482	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	854313	170806482	72392891	241	7263											
MYO3B	140469	broad.mit.edu	37	chr2	171243767	171243767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactggagttgtgatgggggCaagaatctctgaatatctcc	12	7	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:171243767C>T	uc002ufy.2	+	14	1669	c.1526C>T	c.(1525-1527)GCA>GTA	p.A509V	MYO3B_uc002ufv.2_Missense_Mutation_p.A496V|MYO3B_uc010fqb.1_Missense_Mutation_p.A496V|MYO3B_uc002ufz.2_Missense_Mutation_p.A509V|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	509	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						GTGATGGGGGCAAGAATCTCT	0.433													T	171243767	C	T	171243767	3	4	8	1	0	0	0	0	1	0	0	0	10077	710	25	2	1580	2	MYO3B	2	171243767	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	437285	171243767	71955606	242	7264											
PDK1	5163	broad.mit.edu	37	chr2	173435501	173435501	+	Frame_Shift_Del	DEL	C	C	-													catgccaacagaggtgtttaCccccctattcaagttcatgt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:173435500_173435500AC>A	uc002uhs.3	+	7	993	c.893_893AC>A	c.(892-894)tacfs	p.Y298fs	PDK1_uc010zdz.1_Frame_Shift_Del_p.Y143fs|PDK1_uc010zea.1_Non-coding_Transcript|PDK1_uc002uhq.1_Frame_Shift_Del_p.Y318fs|PDK1_uc010zeb.2_Frame_Shift_Del_p.Y318fs	NM_002610	NP_002601	Q15118	PDK1_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 1 (PDK1), nuclear gene encoding mitochondrial protein, mRNA.	298	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.Y298Y(1)		central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			AGAGGTGTTTACCCCCCTATT	0.348									Autosomal Dominant Polycystic Kidney Disease				-	173435501	C	-	173435501	7	5	8	1	0	1	0	1	0	0	0	0	11675	518	18	0	924	0	PDK1	2	173435501	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	2191734	173435501	69763872	243	7265											
GPR155	151556	broad.mit.edu	37	chr2	175346265	175346265	+	Frame_Shift_Del	DEL	A	A	-													aagtcattactttgtgtagcAaaaatagggaatagtccagc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:175346264_175346264CA>C	uc002uit.3	-	2	812	c.421_421TG>G	c.(421-423)gctfs	p.A141fs	GPR155_uc002uiu.3_Frame_Shift_Del_p.A141fs|GPR155_uc002uiv.3_Frame_Shift_Del_p.A141fs|GPR155_uc010fqs.3_Frame_Shift_Del_p.A141fs	NM_001033045	NP_689742	Q7Z3F1	GP155_HUMAN	Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.	141					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CTTTGTGTAGCAAAAATAGGG	0.299													-	175346265	A	-	175346265	7	5	8	1	0	1	0	1	0	0	0	0	6660	127	5	0	2252	0	GPR155	2	175346265	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	1910764	175346265	67853108	244	7266											
HOXD8	3234	broad.mit.edu	37	chr2	176995458	176995458	+	Frame_Shift_Del	DEL	C	C	-													ctccgcctccgccgccacctCccccctgcggcgggattgcc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:176995457_176995457TC>T	uc002uko.3	+	0	990	c.363_363TC>T	c.(361-363)cctfs	p.P121fs	AX747372_uc002ukl.1_5'Flank|AX747372_uc002ukm.1_5'Flank|HOXD8_uc002ukn.3_Intron|HOXD8_uc002ukp.3_Frame_Shift_Del_p.P121fs	NM_019558	NP_062458	P13378	HXD8_HUMAN	Homo sapiens homeobox D8 (HOXD8), transcript variant 1, mRNA.	121	Poly-Pro.				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		cgccgccacctcccccCTGCG	0.692													-	176995458	C	-	176995458	7	5	8	1	0	1	0	1	0	0	0	0	7325	855	30	0	366	0	HOXD8	2	176995458	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	1649193	176995458	66203915	245	7267											
TTN	7273	broad.mit.edu	37	chr2	179398768	179398768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctttgacatagaggatggCcactccatcttcgtaggtga	11	9	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:179398768C>T	uc010zfg.1	-	307	95094	c.94870G>A	c.(94870-94872)GCC>ACC	p.A31624T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A25319T|TTN_uc010zfi.1_Missense_Mutation_p.A25252T|TTN_uc010zfj.1_Missense_Mutation_p.A25127T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32551							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGAGGATGGCCACTCCATCT	0.408													T	179398768	C	T	179398768	3	4	8	1	0	0	0	0	1	0	0	0	16732	739	26	2	5425	2	TTN	2	179398768	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2403310	179398768	63800605	246	7268											
TTN	7273	broad.mit.edu	37	chr2	179424439	179424439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcaatggtcagtgatgtaCgagagtctgtggtatcaaca	11	6	4	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:179424439C>T	uc010zfg.1	-	275	78940	c.78716G>A	c.(78715-78717)CGT>CAT	p.R26239H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R19934H|TTN_uc010zfi.1_Missense_Mutation_p.R19867H|TTN_uc010zfj.1_Missense_Mutation_p.R19742H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27166							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTGATGTACGAGAGTCTGT	0.438													T	179424439	C	T	179424439	3	4	8	1	0	0	0	0	1	0	0	0	16732	536	19	1	21707	1	TTN	2	179424439	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	25671	179424439	63774934	247	7269											
TTN	7273	broad.mit.edu	37	chr2	179453540	179453540	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcttactttagtgactTctgggggatcagggcgacca	12	9	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:179453540T>C	uc010zfg.1	-	253	55432	c.55208A>G	c.(55207-55209)GAA>GGA	p.E18403G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E12098G|TTN_uc010zfi.1_Missense_Mutation_p.E12031G|TTN_uc010zfj.1_Missense_Mutation_p.E11906G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19330							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAGTGACTTCTGGGGGATC	0.423													C	179453540	T	C	179453540	3	2	8	1	0	0	0	0	1	0	0	0	16732	1783	62	3	45303	3	TTN	2	179453540	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	29101	179453540	63745833	248	7270											
TTN	7273	broad.mit.edu	37	chr2	179454027	179454027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcttgttaagtctgtagCgtctttgtccttggtccatg	10	8	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:179454027C>T	uc010zfg.1	-	253	54945	c.54721G>A	c.(54721-54723)GCT>ACT	p.A18241T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A11936T|TTN_uc010zfi.1_Missense_Mutation_p.A11869T|TTN_uc010zfj.1_Missense_Mutation_p.A11744T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19168							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTCTGTAGCGTCTTTGTCC	0.458													T	179454027	C	T	179454027	3	4	8	1	0	0	0	0	1	0	0	0	16732	768	27	1	45790	1	TTN	2	179454027	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	487	179454027	63745346	249	7271											
TTN	7273	broad.mit.edu	37	chr2	179587174	179587174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tataccagcacacttggatgGgtgcagagccatttaatcga	10	9	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:179587174G>A	uc010zfg.1	-	74	18832	c.18608C>T	c.(18607-18609)CCC>CTC	p.P6203L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P2864L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7130							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTTGGATGGGTGCAGAGCC	0.398													A	179587174	G	A	179587174	3	1	8	1	0	0	0	0	1	0	0	0	16732	1232	43	4	82333	4	TTN	2	179587174	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	133147	179587174	63612199	250	7272											
CCDC141	285025	broad.mit.edu	37	chr2	179720989	179720989	+	Frame_Shift_Del	DEL	T	T	-													atactttcttgttacctgcaTtttttcagcatacatatcaa							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:179720988_179720988AT>A	uc002une.2	-	17	2979	c.2861_2861AT>T	c.(2860-2862)atgfs	p.M954fs	CCDC141_uc002unf.1_Frame_Shift_Del_p.M433fs	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	379							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGTTACCTGCATTTTTTCAGC	0.294													-	179720989	T	-	179720989	7	5	8	1	0	1	0	1	0	0	0	0	2775	1493	52	0	1516	0	CCDC141	2	179720989	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	133815	179720989	63478384	251	7273											
ITGA4	3676	broad.mit.edu	37	chr2	182339944	182339944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgaaaataagctccccaCtggtggttgctatggagtgc	12	8	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:182339944C>T	uc002unu.2	+	4	1248	c.485C>T	c.(484-486)ACT>ATT	p.T162I	ITGA4_uc010zfl.1_Missense_Mutation_p.T162I	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	162	FG-GAP 2.|Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AAGCTCCCCACTGGTGGTTGC	0.368													T	182339944	C	T	182339944	3	4	8	1	0	0	0	0	1	0	0	0	7878	565	20	4	499	4	ITGA4	2	182339944	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2618955	182339944	60859429	252	7274											
ITGA4	3676	broad.mit.edu	37	chr2	182399098	182399098	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgagaatgttgcgcatGtaagattaccctcttaactg	10	7	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:182399098G>A	uc002unu.2	+	26	3646	c.2883_splice	c.e26+1	p.H961_splice	ITGA4_uc002unv.2_Splice_Site_p.H206_splice	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor						blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGTTGCGCATGTAAGATTACC	0.368													A	182399098	G	A	182399098	5	1	8	1	0	0	0	0	0	0	1	0	7878	1391	48	4	2986	4	ITGA4	2	182399098	Splice_Site	SNP	G	TCGA-BR-4201-01A-01D-1126-08	59154	182399098	60800275	253	7275											
PDE1A	5136	broad.mit.edu	37	chr2	183129093	183129093	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaatattcttctttaagtcGacgacgttaacatcacctct	4	11	5	0	rs148985621		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:183129093G>A	uc002uos.2	-	3	234	c.150C>T	c.(148-150)GTC>GTT	p.V50V	PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Silent_p.V50V|PDE1A_uc010zfq.1_Silent_p.V50V|PDE1A_uc002uor.2_Silent_p.V34V|PDE1A_uc002uov.1_RNA	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 2	50					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCTTTAAGTCGACGACGTTAA	0.363													A	183129093	G	A	183129093	2	1	8	1	0	0	0	0	0	0	0	1	11633	1045	37	1		1	PDE1A	2	183129093	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	729995	183129093	60070280	254	7276											
DNAH7	56171	broad.mit.edu	37	chr2	196636411	196636411	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttttgaatatttacgcaCgaatctcttatggtcttcag	7	8	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:196636411C>T	uc002utj.3	-	61	11507	c.11406G>A	c.(11404-11406)TCG>TCA	p.S3802S	DNAH7_uc002uti.3_Silent_p.S285S	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3802					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TATTTACGCACGAATCTCTTA	0.328													T	196636411	C	T	196636411	2	4	8	1	0	0	0	0	0	0	0	1	4606	523	19	1		1	DNAH7	2	196636411	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	13507318	196636411	46562962	255	7277											
HECW2	57520	broad.mit.edu	37	chr2	197171263	197171263	+	Frame_Shift_Del	DEL	G	G	-													gggctgatgaggaacttcacGgggggagactgtaacagcaa					rs144884935	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:197171262_197171262CG>C	uc002utm.1	-	12	2947	c.2764_2764CG>G	c.(2764-2766)gtgfs	p.V922fs	HECW2_uc002utl.1_Frame_Shift_Del_p.V566fs	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	922	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGGAACTTCACGGGGGGAGAC	0.532													-	197171263	G	-	197171263	7	5	8	1	0	1	0	1	0	0	0	0	7043	1103	39	0	2023	0	HECW2	2	197171263	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	534852	197171263	46028110	256	7278											
CLK1	1195	broad.mit.edu	37	chr2	201722550	201722550	+	Frame_Shift_Del	DEL	A	A	-													gtactaagtcccaatagttcAaaaacaatgcaaatgtgacc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:201722549_201722549CA>C	uc002uwe.2	-	6	905	c.724_724TG>G	c.(724-726)gaafs	p.E242fs	CLK1_uc010zhi.1_Frame_Shift_Del_p.E284fs|CLK1_uc002uwf.2_Frame_Shift_Del_p.E16fs|CLK1_uc002uwg.2_Frame_Shift_Del_p.E91fs	NM_004071	NP_004062	P49759	CLK1_HUMAN	Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 1, mRNA.	242	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CCCAATAGTTCAAAAACAATG	0.368													-	201722550	A	-	201722550	7	5	8	1	0	1	0	1	0	0	0	0	3536	127	5	0	759	0	CLK1	2	201722550	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	4551287	201722550	41476823	257	7279											
ALS2CR11	151254	broad.mit.edu	37	chr2	202352566	202352566	+	Frame_Shift_Del	DEL	T	T	-													agccttgatcttgattttacTtttttaaggtgtgtaaatga							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:202352565_202352565CT>C	uc002uyf.3	-	15	5285	c.5233_5233AG>G	c.(5233-5235)gtafs	p.V1745fs	ALS2CR11_uc002uye.3_Frame_Shift_Del_p.V548fs|ALS2CR11_uc010fti.3_3'UTR	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	548								p.V548L(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CTTGATTTTACTTTTTTAAGG	0.338													-	202352566	T	-	202352566	7	5	8	1	0	1	0	1	0	0	0	0	552	1606	56	0	234	0	ALS2CR11	2	202352566	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	630016	202352566	40846807	258	7280											
ALS2	57679	broad.mit.edu	37	chr2	202591522	202591522	+	Frame_Shift_Del	DEL	G	G	-													cactgctaccacttccataaGgggggagatcagacatccct							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:202591521_202591521AG>A	uc002uyo.3	-	17	3404	c.3048_3048CT>T	c.(3046-3048)cctfs	p.P1016fs	ALS2_uc002uyp.4_Frame_Shift_Del_p.P1016fs|ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	1016					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CACTTCCATAAGGGGGGAGAT	0.463													-	202591522	G	-	202591522	7	5	8	1	0	1	0	1	0	0	0	0	550	1000	35	0	1994	0	ALS2	2	202591522	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	238956	202591522	40607851	259	7281											
FZD7	8324	broad.mit.edu	37	chr2	202899989	202899989	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagggggcgtcccgccttcCccttctcatgcccccgtcag	11	19	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:202899989C>A	uc002uyw.1	+	1	680	c.619C>A	c.(619-621)CCC>ACC	p.P207T		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	207	Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(2)|ovary(1)|breast(1)	4						TCCCGCCTTCCCCTTCTCATG	0.731											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	202899989	C	A	202899989	3	1	8	1	0	0	0	0	1	0	0	0	6135	623	22	5	621	5	FZD7	2	202899989	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	308467	202899989	40299384	260	7282											
FZD7	8324	broad.mit.edu	37	chr2	202900525	202900525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtacttccacctggccgcGtgggccgtgcccgccgtcaa	12	17	1	0	rs140334850		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:202900525G>A	uc002uyw.1	+	1	1216	c.1155G>A	c.(1153-1155)GCG>GCA	p.A385A		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	385	Helical; Name=4; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(2)|ovary(1)|breast(1)	4						ACCTGGCCGCGTGGGCCGTGC	0.647											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	202900525	G	A	202900525	2	1	8	1	0	0	0	0	0	0	0	1	6135	1132	40	1		1	FZD7	2	202900525	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	536	202900525	40298848	261	7283											
WDR12	55759	broad.mit.edu	37	chr2	203772679	203772679	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagggaacatcatctacggcAtatctataaaaaggaaatga	8	6	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:203772679A>G	uc002uzl.2	-	2	795	c.45T>C	c.(43-45)TAT>TAC	p.Y15Y	WDR12_uc010ftt.2_Silent_p.Y15Y	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	WD repeat domain 12 protein	15					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						CATCTACGGCATATCTATAAA	0.343													G	203772679	A	G	203772679	2	3	8	1	0	0	0	0	0	0	0	1	17271	224	8	3		3	WDR12	2	203772679	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	872154	203772679	39426694	262	7284											
RAPH1	65059	broad.mit.edu	37	chr2	204354422	204354422	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctggaatgggaggaaTtactaatagagtgtacttca	12	4	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:204354422T>A	uc002vad.2	-	4	842	c.617A>T	c.(616-618)AAT>ATT	p.N206I	RAPH1_uc002vae.2_Missense_Mutation_p.N206I|RAPH1_uc002vaf.2_Missense_Mutation_p.N206I	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	206					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						ATGGGAGGAATTACTAATAGA	0.453													A	204354422	T	A	204354422	3	1	8	1	0	0	0	0	1	0	0	0	13050	1493	52	5	3350	5	RAPH1	2	204354422	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	581743	204354422	38844951	263	7285											
PARD3B	117583	broad.mit.edu	37	chr2	205978267	205978267	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaggaggcccattgggaataCatgtagtgcccttcttttca	10	9	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:205978267C>G	uc002var.1	+	6	853	c.646C>G	c.(646-648)CAT>GAT	p.H216D	PARD3B_uc010fub.1_Missense_Mutation_p.H216D|PARD3B_uc002vao.1_Missense_Mutation_p.H216D|PARD3B_uc002vap.1_Missense_Mutation_p.H216D|PARD3B_uc002vaq.1_Missense_Mutation_p.H216D	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	216	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ATTGGGAATACATGTAGTGCC	0.423													G	205978267	C	G	205978267	3	3	8	1	0	0	0	0	1	0	0	0	11444	478	17	5	668	5	PARD3B	2	205978267	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1623845	205978267	37221106	264	7286											
PARD3B	117583	broad.mit.edu	37	chr2	205983711	205983711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcgggagggactatttcaCgaaaatgaatgtattgtaaa	11	4	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:205983711C>T	uc002var.1	+	7	954	c.747C>T	c.(745-747)CAC>CAT	p.H249H	PARD3B_uc010fub.1_Silent_p.H249H|PARD3B_uc002vao.1_Silent_p.H249H|PARD3B_uc002vap.1_Silent_p.H249H|PARD3B_uc002vaq.1_Silent_p.H249H	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	249	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GACTATTTCACGAAAATGAAT	0.348													T	205983711	C	T	205983711	2	4	8	1	0	0	0	0	0	0	0	1	11444	535	19	1		1	PARD3B	2	205983711	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	5444	205983711	37215662	265	7287											
NRP2	8828	broad.mit.edu	37	chr2	206587398	206587398	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagggggactgcaagtaCgattggctggacatctggga	18	6	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:206587398C>T	uc002vaw.2	+	4	1421	c.630C>T	c.(628-630)TAC>TAT	p.Y210Y	NRP2_uc002vat.2_Silent_p.Y210Y|NRP2_uc002vau.2_Silent_p.Y210Y|NRP2_uc002vav.2_Silent_p.Y210Y|NRP2_uc002vax.2_Silent_p.Y210Y|NRP2_uc002vay.2_Silent_p.Y210Y|NRP2_uc010fud.2_Silent_p.Y210Y	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	210	Extracellular (Potential).|CUB 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4						ACTGCAAGTACGATTGGCTGG	0.502													T	206587398	C	T	206587398	2	4	8	1	0	0	0	0	0	0	0	1	10661	547	19	1		1	NRP2	2	206587398	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	603687	206587398	36611975	266	7288											
INO80D	54891	broad.mit.edu	37	chr2	206870106	206870106	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacctgtggagaacaccccTattcctctatctgacaactc	6	14	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:206870106T>C	uc002vaz.3	-	11	2475	c.2070A>G	c.(2068-2070)ATA>ATG	p.I690M		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	690					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						AGAACACCCCTATTCCTCTAT	0.527													C	206870106	T	C	206870106	3	2	8	1	0	0	0	0	1	0	0	0	7749	1512	53	3	1017	3	INO80D	2	206870106	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	282708	206870106	36329267	267	7289											
CRYGC	1420	broad.mit.edu	37	chr2	208993108	208993108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatctcgctgaggtggaagCggtcctggatgctggggcag	19	8	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:208993108C>T	uc002vco.3	-	3	382	c.344G>A	c.(343-345)CGC>CAC	p.R115H		NM_020989	NP_066269	P07315	CRGC_HUMAN	crystallin, gamma C	115	Beta/gamma crystallin 'Greek key' 3.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens				0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GAGGTGGAAGCGGTCCTGGAT	0.627													T	208993108	C	T	208993108	3	4	8	1	0	0	0	0	1	0	0	0	3916	768	27	1	184	1	CRYGC	2	208993108	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2123002	208993108	34206265	268	7290											
PTH2R	5746	broad.mit.edu	37	chr2	209308074	209308074	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatatttctctccgtagaCgattgcattgcactaggaac	8	9	1	2	rs149710383		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:209308074C>T	uc002vdb.2	+	6	724	c.511C>T	c.(511-513)CGA>TGA	p.R171*	PTH2R_uc010zjb.1_Nonsense_Mutation_p.R182*	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	171	Cytoplasmic (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TCTCCGTAGACGATTGCATTG	0.433													T	209308074	C	T	209308074	4	4	8	1	0	0	0	0	0	1	0	0	12760	550	19	1	533	1	PTH2R	2	209308074	Nonsense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	314966	209308074	33891299	269	7291											
MAP2	4133	broad.mit.edu	37	chr2	210545528	210545529	+	Frame_Shift_Ins	INS	-	-	A													cccccatcacctgcctcagaINSacagactgtcacagtggagg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:210545527_210545528G>GA	uc002vde.1	+	5	678_679	c.430_431G>GA	c.(430-432)gaafs	p.E144fs	MAP2_uc002vdc.1_Frame_Shift_Ins_p.E144fs|MAP2_uc002vdd.1_Frame_Shift_Ins_p.E144fs|MAP2_uc002vdf.1_Frame_Shift_Ins_p.E144fs|MAP2_uc002vdg.1_Frame_Shift_Ins_p.E144fs|MAP2_uc002vdh.1_Frame_Shift_Ins_p.E144fs|MAP2_uc002vdi.1_Frame_Shift_Ins_p.E144fs	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	144					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ACCTGCCTCAGAACAGACTGTC	0.406													A	210545529	-	A	210545528	7	5	8	1	0	1	1	0	0	0	0	0	9235	246	9	0	441	0	MAP2	2	210545528	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	1237454	210545528	32653845	270	7292											
MAP2	4133	broad.mit.edu	37	chr2	210559705	210559705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgacaaagaagcatccgcGcatatctctggtgacaaatc	9	10	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:210559705G>A	uc002vde.1	+	7	3059	c.2811G>A	c.(2809-2811)GCG>GCA	p.A937A	MAP2_uc002vdc.1_Silent_p.A937A|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.A933A	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	937					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AAGCATCCGCGCATATCTCTG	0.433													A	210559705	G	A	210559705	2	1	8	1	0	0	0	0	0	0	0	1	9235	1074	38	1		1	MAP2	2	210559705	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	14177	210559705	32639668	271	7293											
MAP2	4133	broad.mit.edu	37	chr2	210561667	210561668	+	Frame_Shift_Ins	INS	-	-	A													taagaaggctgaacttgctaINSaaaaaacagaagttcaggcc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:210561666_210561667T>TA	uc002vde.1	+	8	4661_4662	c.4413_4414T>TA	c.(4411-4416)gctaaafs	p.A1471fs	MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Frame_Shift_Ins_p.A1467fs	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1471					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.T1474fs*14(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CTGAACTTGCTAAAAAAACAGA	0.366													A	210561668	-	A	210561667	7	5	8	1	0	1	1	0	0	0	0	0	9235	363	13	0	4436	0	MAP2	2	210561667	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	1962	210561667	32637706	272	7294											
CPS1	1373	broad.mit.edu	37	chr2	211457621	211457621	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggattatgcatgagagcAaacccttcttcgctgtgcag	12	9	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:211457621A>G	uc002vee.3	+	11	1237	c.1105A>G	c.(1105-1107)AAA>GAA	p.K369E	CPS1_uc010fur.2_Missense_Mutation_p.K375E|CPS1_uc010fus.2_5'Flank	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	369	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCATGAGAGCAAACCCTTCTT	0.418													G	211457621	A	G	211457621	3	3	8	1	0	0	0	0	1	0	0	0	3823	131	5	3	1169	3	CPS1	2	211457621	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	895954	211457621	31741752	273	7295											
CPS1	1373	broad.mit.edu	37	chr2	211540487	211540487	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacatcagactggctcaaCgccaacaatgtccctgccac	7	17	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:211540487C>T	uc002vee.3	+	36	4329	c.4197C>T	c.(4195-4197)AAC>AAT	p.N1399N	CPS1_uc010fur.2_Silent_p.N1405N|CPS1_uc010fus.2_Silent_p.N948N	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	1399					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ACTGGCTCAACGCCAACAATG	0.438													T	211540487	C	T	211540487	2	4	8	1	0	0	0	0	0	0	0	1	3823	535	19	1		1	CPS1	2	211540487	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	82866	211540487	31658886	274	7296											
IKZF2	22807	broad.mit.edu	37	chr2	213921663	213921663	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agccggattcctccctcgccTtgaagctcctggactttcct	8	16	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:213921663T>G	uc002vem.2	-	4	469	c.300A>C	c.(298-300)CAA>CAC	p.Q100H	IKZF2_uc010fuu.2_Intron|IKZF2_uc002vej.2_Missense_Mutation_p.Q47H|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.Q100H|IKZF2_uc002vel.2_Missense_Mutation_p.Q47H|IKZF2_uc010fuw.2_5'UTR|IKZF2_uc010fux.2_Intron|IKZF2_uc010fuy.2_Missense_Mutation_p.Q100H|IKZF2_uc002ven.2_Missense_Mutation_p.Q100H	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	helios isoform 1	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CTCCCTCGCCTTGAAGCTCCT	0.512													G	213921663	T	G	213921663	3	3	8	1	0	0	0	0	1	0	0	0	7615	1606	56	5	1300	5	IKZF2	2	213921663	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	2381176	213921663	29277710	275	7297											
SPAG16	79582	broad.mit.edu	37	chr2	215274888	215274888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttttagctcaggcaagtgGcaatggtgttatccatttgc	11	7	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:215274888G>A	uc002veq.2	+	16	1837	c.1745G>A	c.(1744-1746)GGC>GAC	p.G582D	SPAG16_uc002ver.2_Missense_Mutation_p.G528D|SPAG16_uc010zjk.1_Missense_Mutation_p.G488D|VWC2L_uc002vet.2_5'Flank|VWC2L_uc010zjl.1_5'Flank	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	582	WD 6.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CAGGCAAGTGGCAATGGTGTT	0.438													A	215274888	G	A	215274888	3	1	8	1	0	0	0	0	1	0	0	0	14978	1203	42	2	1823	2	SPAG16	2	215274888	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1353225	215274888	27924485	276	7298											
ABCA12	26154	broad.mit.edu	37	chr2	215876354	215876354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccttgtggtgtgttcattCggttgcttctgtacattgcc	10	9	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:215876354C>T	uc002vew.2	-	17	2361	c.2141G>A	c.(2140-2142)CGA>CAA	p.R714Q	ABCA12_uc002vev.2_Missense_Mutation_p.R396Q|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	714					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGTGTTCATTCGGTTGCTTCT	0.403													T	215876354	C	T	215876354	3	4	8	1	0	0	0	0	1	0	0	0	30	884	31	1	5794	1	ABCA12	2	215876354	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	601466	215876354	27323019	277	7299											
FN1	2335	broad.mit.edu	37	chr2	216273121	216273121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggaagcaggtcagggatGttcacagaagtggctgtgct	15	8	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:216273121G>A	uc002vfa.2	-	16	2594	c.2328C>T	c.(2326-2328)AAC>AAT	p.N776N	FN1_uc002vfb.2_Silent_p.N776N|FN1_uc002vfc.2_Silent_p.N776N|FN1_uc002vfd.2_Silent_p.N776N|FN1_uc002vfe.2_Silent_p.N776N|FN1_uc002vff.2_Silent_p.N776N|FN1_uc002vfg.2_Silent_p.N776N|FN1_uc002vfh.2_Silent_p.N776N|FN1_uc002vfi.2_Silent_p.N776N|FN1_uc002vfj.2_Silent_p.N776N	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	776	Fibronectin type-III 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTCAGGGATGTTCACAGAAG	0.408													A	216273121	G	A	216273121	2	1	8	1	0	0	0	0	0	0	0	1	5962	1368	48	4		4	FN1	2	216273121	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	396767	216273121	26926252	278	7300											
TNS1	7145	broad.mit.edu	37	chr2	218683462	218683462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcactgctctctcccgacGggaaactccccactgaagtg	10	15	2	1	rs149785174	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:218683462G>A	uc002vgt.2	-	24	3679	c.3281C>T	c.(3280-3282)CCG>CTG	p.P1094L	TNS1_uc002vgr.2_Missense_Mutation_p.P1081L|TNS1_uc002vgs.2_Missense_Mutation_p.P1073L|TNS1_uc010zjv.1_Missense_Mutation_p.P1073L	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1094	Ser-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTCTCCCGACGGGAAACTCCC	0.627													A	218683462	G	A	218683462	3	1	8	1	0	0	0	0	1	0	0	0	16340	1116	39	1	1966	1	TNS1	2	218683462	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2410341	218683462	24515911	279	7301											
CYP27A1	1593	broad.mit.edu	37	chr2	219676971	219676971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccactggtaccagctgcGccaggctctgaaccagcggt	11	15	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:219676971G>A	uc002viz.3	+	3	907	c.473G>A	c.(472-474)CGC>CAC	p.R158H		NM_000784	NP_000775	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A,	158					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	TACCAGCTGCGCCAGGCTCTG	0.537													A	219676971	G	A	219676971	3	1	8	1	0	0	0	0	1	0	0	0	4158	1087	38	1	483	1	CYP27A1	2	219676971	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	993509	219676971	23522402	280	7302											
CCDC108	255101	broad.mit.edu	37	chr2	219893035	219893035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccgggccaggtgtgtgCggtaccaggtgaggtgctga	19	10	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:219893035C>T	uc002vjl.1	-	12	1823	c.1739G>A	c.(1738-1740)CGC>CAC	p.R580H	CCDC108_uc010fwa.1_Missense_Mutation_p.R23H|CCDC108_uc010zkp.1_Missense_Mutation_p.R569H|CCDC108_uc010zkq.1_Missense_Mutation_p.R515H	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	580						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGTGTGTGCGGTACCAGGT	0.617													T	219893035	C	T	219893035	3	4	8	1	0	0	0	0	1	0	0	0	2743	768	27	1	4134	1	CCDC108	2	219893035	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	216064	219893035	23306338	281	7303											
ZFAND2B	130617	broad.mit.edu	37	chr2	220073005	220073006	+	Frame_Shift_Del	DEL	TG	TG	-													gccatctccagagcacaagcTgtggcttctacaagcactgt					rs143749451		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:220073004_220073005CTG>C	uc002vka.3	+	4	633_634	c.461_462CTG>C	c.(460-462)gctfs	p.A154fs	ZFAND2B_uc010zkt.2_Frame_Shift_Del_p.A154fs|ZFAND2B_uc010fwd.1_Frame_Shift_Del_p.A154fs|ZFAND2B_uc002vjz.1_Frame_Shift_Del_p.A154fs|ZFAND2B_uc002vkb.1_Frame_Shift_Del_p.A45fs	NM_138802	NP_620157	Q8WV99	ZFN2B_HUMAN	Homo sapiens zinc finger, AN1-type domain 2B (ZFAND2B), mRNA.	154						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGCACAAGCTGTGGCTTCTA	0.55													-	220073006	TG	-	220073005	7	5	8	1	0	1	0	1	0	0	0	0	17625	1567	55	0	480	0	ZFAND2B	2	220073005	Frame_Shift_Del	DEL	TG	TCGA-BR-4201-01A-01D-1126-08	179970	220073005	23126368	282	7304											
ABCB6	10058	broad.mit.edu	37	chr2	220074986	220074986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcagccatccttgatgaCgaggatctggtcagcattga	12	9	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:220074986C>T	uc002vkc.1	-	18	2663	c.2386G>A	c.(2386-2388)GTC>ATC	p.V796I	ABCB6_uc010fwe.1_Missense_Mutation_p.V750I	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B, member 6	796	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTTGATGACGAGGATCTGG	0.552													T	220074986	C	T	220074986	3	4	8	1	0	0	0	0	1	0	0	0	45	536	19	1	150	1	ABCB6	2	220074986	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1981	220074986	23124387	283	7305											
INHA	3623	broad.mit.edu	37	chr2	220440169	220440169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgaggcccctacatgtccGcaccacctcggatggaggtt	11	14	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:220440169G>A	uc002vmk.1	+	2	1166	c.1022G>A	c.(1021-1023)CGC>CAC	p.R341H		NM_002191	NP_002182	P05111	INHA_HUMAN	inhibin alpha subunit precursor	341					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTACATGTCCGCACCACCTCG	0.612													A	220440169	G	A	220440169	3	1	8	1	0	0	0	0	1	0	0	0	7740	1087	38	1	1028	1	INHA	2	220440169	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	365183	220440169	22759204	284	7306											
WDFY1	57590	broad.mit.edu	37	chr2	224758993	224758993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccacactgcaattccgccGtccgaggaacaggagacgag	11	13	0	1	rs145535635		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:224758993G>A	uc002vnq.2	-	8	840	c.789C>T	c.(787-789)GAC>GAT	p.D263D		NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	263	WD 6.					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			lung(1)	1		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CAATTCCGCCGTCCGAGGAAC	0.557													A	224758993	G	A	224758993	2	1	8	1	0	0	0	0	0	0	0	1	17265	1136	40	1		1	WDFY1	2	224758993	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4318824	224758993	18440380	285	7307											
DOCK10	55619	broad.mit.edu	37	chr2	225637874	225637874	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgggcaatgcttactcacCttcacgctgacacttccttg	7	15	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:225637874C>A	uc010fwz.1	-	53	6443	c.6204G>T	c.(6202-6204)AAG>AAT	p.K2068N	DOCK10_uc002vob.2_Missense_Mutation_p.K2062N|DOCK10_uc002voa.2_Missense_Mutation_p.K724N	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2068	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GCTTACTCACCTTCACGCTGA	0.433													A	225637874	C	A	225637874	3	1	8	1	0	0	0	0	1	0	0	0	4685	695	24	5	372	5	DOCK10	2	225637874	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	878881	225637874	17561499	286	7308											
DOCK10	55619	broad.mit.edu	37	chr2	225706574	225706574	+	Frame_Shift_Del	DEL	T	T	-													ctgagacatatctttctctcTtttttggcactcttggaaaa							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:225706573_225706573CT>C	uc010fwz.1	-	22	2848	c.2609_2609AG>G	c.(2608-2610)agafs	p.R870fs	DOCK10_uc002vob.2_Frame_Shift_Del_p.R864fs	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	870	DHR-1.						GTP binding	p.E869K(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ATCTTTCTCTCTTTTTTGGCA	0.378													-	225706574	T	-	225706574	7	5	8	1	0	1	0	1	0	0	0	0	4685	1617	56	0	4088	0	DOCK10	2	225706574	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	68700	225706574	17492799	287	7309											
SPHKAP	80309	broad.mit.edu	37	chr2	228883406	228883406	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaatatgactcatcttctTgaacgtgaagcatatcacat	5	9	4	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:228883406T>C	uc002vpq.2	-	7	2211	c.2164A>G	c.(2164-2166)AAG>GAG	p.K722E	SPHKAP_uc002vpp.2_Missense_Mutation_p.K722E|SPHKAP_uc010zlx.1_Missense_Mutation_p.K722E	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	722						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCATCTTCTTGAACGTGAAG	0.438													C	228883406	T	C	228883406	3	2	8	1	0	0	0	0	1	0	0	0	15047	1821	63	3	2962	3	SPHKAP	2	228883406	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	3176832	228883406	14315967	288	7310											
TRIP12	9320	broad.mit.edu	37	chr2	230668408	230668408	+	Splice_Site	DEL	A	A	-													agcatggaagcaatgtgactAaaaaaagaaagcatttgtat							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:230668407_230668407TA>T	uc002vpx.1	-	20	2908	c.2799_splice	c.e20-1	p.S933_splice	TRIP12_uc021vxw.1_Splice_Site_p.S918_splice|TRIP12_uc002vpy.1_Splice_Site_p.S615_splice|TRIP12_uc002vpw.1_Splice_Site_p.S885_splice|TRIP12_uc010zlz.1_Intron	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	885					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GCAATGTGACTAAAAAAAGAA	0.343													-	230668408	A	-	230668408	8	5	8	1	0	1	0	1	0	0	1	0	16553	377	13	0		0	TRIP12	2	230668408	Splice_Site	DEL	A	TCGA-BR-4201-01A-01D-1126-08	1785002	230668408	12530965	289	7311											
SLC16A14	151473	broad.mit.edu	37	chr2	230923861	230923861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgacccaggcggtcaggcCgcggctctggtggaattctt	15	12	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:230923861C>T	uc002vqd.1	-	2	571	c.208G>A	c.(208-210)GGC>AGC	p.G70S	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.G70S|SLC16A14_uc002vqf.2_Missense_Mutation_p.G70S	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	70	Cytoplasmic (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GCGGTCAGGCCGCGGCTCTGG	0.537													T	230923861	C	T	230923861	3	4	8	1	0	0	0	0	1	0	0	0	14407	652	23	1	1340	1	SLC16A14	2	230923861	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	255453	230923861	12275512	290	7312											
ALPI	248	broad.mit.edu	37	chr2	233322294	233322294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatccttggcggaggccGcaagtacatgtttcccatgg	14	10	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:233322294G>A	uc002vst.3	+	6	745	c.668G>A	c.(667-669)CGC>CAC	p.R223H	ALPI_uc002vsu.3_Missense_Mutation_p.R134H	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	223					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGCGGAGGCCGCAAGTACATG	0.632													A	233322294	G	A	233322294	3	1	8	1	0	0	0	0	1	0	0	0	543	1087	38	1	690	1	ALPI	2	233322294	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2398433	233322294	9877079	291	7313											
GIGYF2	26058	broad.mit.edu	37	chr2	233677140	233677141	+	Frame_Shift_Del	DEL	TG	TG	-													attccctcagtaactaggtcTgtgtccgtgccagatactgg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:233677139_233677140CTG>C	uc002vtj.4	+	19	2375_2376	c.2108_2109CTG>C	c.(2107-2109)tctfs	p.S703fs	GIGYF2_uc010zmj.1_Frame_Shift_Del_p.S682fs|GIGYF2_uc002vtg.2_Frame_Shift_Del_p.S676fs|GIGYF2_uc002vti.4_Frame_Shift_Del_p.S682fs|GIGYF2_uc002vtk.4_Frame_Shift_Del_p.S682fs|GIGYF2_uc002vth.4_Frame_Shift_Del_p.S676fs|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Frame_Shift_Del_p.S513fs|GIGYF2_uc002vtq.4_Frame_Shift_Del_p.S15fs	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	682	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GTAACTAGGTCTGTGTCCGTGC	0.386													-	233677141	TG	-	233677140	7	5	8	1	0	1	0	1	0	0	0	0	6378	1567	55	0	2178	0	GIGYF2	2	233677140	Frame_Shift_Del	DEL	TG	TCGA-BR-4201-01A-01D-1126-08	354846	233677140	9522233	292	7314											
INPP5D	3635	broad.mit.edu	37	chr2	234072474	234072474	+	Frame_Shift_Del	DEL	C	C	-													gtgatcggcacccaagaggaCcccctgagtgagaaggagtg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:234072473_234072473AC>A	uc010zmo.2	+	10	1427	c.1274_1274AC>A	c.(1273-1275)gacfs	p.D425fs	INPP5D_uc010zmp.2_Frame_Shift_Del_p.D424fs	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	454					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		ACCCAAGAGGACCCCCTGAGT	0.552													-	234072474	C	-	234072474	7	5	8	1	0	1	0	1	0	0	0	0	7756	506	18	0	916	0	INPP5D	2	234072474	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	395334	234072474	9126899	293	7315											
DGKD	8527	broad.mit.edu	37	chr2	234299106	234299106	+	Frame_Shift_Del	DEL	A	A	-													gcgtagctgaatccagtaccAaaaacgtcaacaacagtttt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:234299105_234299105CA>C	uc002vui.1	+	2	336	c.324_324CA>C	c.(322-324)accfs	p.T108fs	DGKD_uc002vuj.1_Frame_Shift_Del_p.T64fs	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	108	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	p.S107S(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AATCCAGTACCAAAAACGTCA	0.413													-	234299106	A	-	234299106	7	5	8	1	0	1	0	1	0	0	0	0	4467	131	5	0	359	0	DGKD	2	234299106	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	226632	234299106	8900267	294	7316											
HJURP	55355	broad.mit.edu	37	chr2	234750556	234750556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggagttccagttttgCatgatgaacgttttggtgga	12	7	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:234750556C>T	uc002vvg.2	-	8	936	c.870G>A	c.(868-870)ATG>ATA	p.M290I	HJURP_uc010znd.1_Missense_Mutation_p.M229I|HJURP_uc010zne.1_Missense_Mutation_p.M198I	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	290					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TCCAGTTTTGCATGATGAACG	0.493													T	234750556	C	T	234750556	3	4	8	1	0	0	0	0	1	0	0	0	7189	710	25	2	1384	2	HJURP	2	234750556	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	451450	234750556	8448817	295	7317											
COL6A3	1293	broad.mit.edu	37	chr2	238245163	238245163	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaggacttgaagtaacgttAttcggaacatttctgttaag	10	5	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:238245163A>G	uc002vwl.2	-	40	8865	c.8580T>C	c.(8578-8580)AAT>AAC	p.N2860N	COL6A3_uc002vwo.2_Silent_p.N2654N|COL6A3_uc010znj.1_Silent_p.N2253N|COL6A3_uc002vwj.2_Silent_p.N241N	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2860	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAGTAACGTTATTCGGAACAT	0.398													G	238245163	A	G	238245163	2	3	8	1	0	0	0	0	0	0	0	1	3701	446	16	3		3	COL6A3	2	238245163	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	3494607	238245163	4954210	296	7318											
ILKAP	80895	broad.mit.edu	37	chr2	239090722	239090722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacctgacgtttcctccagCcttctgtatcctcatccgct	5	16	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:239090722C>T	uc002vxv.2	-	9	950	c.820G>A	c.(820-822)GCT>ACT	p.A274T	ILKAP_uc010zns.1_Missense_Mutation_p.A206T|ILKAP_uc002vxw.2_Missense_Mutation_p.A154T|ILKAP_uc010znt.1_Missense_Mutation_p.A154T	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated protein	274	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			ovary(3)	3		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TTTCCTCCAGCCTTCTGTATC	0.488													T	239090722	C	T	239090722	3	4	8	1	0	0	0	0	1	0	0	0	7714	739	26	2	374	2	ILKAP	2	239090722	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	845559	239090722	4108651	297	7319											
PER2	8864	broad.mit.edu	37	chr2	239161605	239161605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgccaggtttgcagtccGcccctacagctgctgtctct	10	14	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:239161605G>A	uc002vyc.2	-	19	3296	c.3059C>T	c.(3058-3060)GCG>GTG	p.A1020V	PER2_uc010znv.1_Missense_Mutation_p.A1020V	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	1020					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TTTGCAGTCCGCCCCTACAGC	0.622													A	239161605	G	A	239161605	3	1	8	1	0	0	0	0	1	0	0	0	11730	1087	38	1	728	1	PER2	2	239161605	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	70883	239161605	4037768	298	7320											
PRR21	643905	broad.mit.edu	37	chr2	240981288	240981288	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaagacaggtgttgaaggtgGccctggcagacagcagcaag	16	8	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:240981288G>C	uc010zod.1	-	1	1112	c.1112C>G	c.(1111-1113)GCC>GGC	p.A371G		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	proline rich 21	371										ovary(1)|skin(1)	2						GTTGAAGGTGGCCCTGGCAGA	0.478													C	240981288	G	C	240981288	3	2	8	1	0	0	0	0	1	0	0	0	12592	1203	42	5	60	5	PRR21	2	240981288	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1819683	240981288	2218085	299	7321											
ANKMY1	51281	broad.mit.edu	37	chr2	241463615	241463615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggaccccccacactgccCggtgtcctggaagtggccgc	12	16	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:241463615C>T	uc002vyz.1	-	7	1481	c.1252G>A	c.(1252-1254)GGG>AGG	p.G418R	ANKMY1_uc002vza.1_Missense_Mutation_p.G277R|ANKMY1_uc010fzd.1_Missense_Mutation_p.G507R|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Missense_Mutation_p.G277R|ANKMY1_uc002vzd.1_Missense_Mutation_p.G277R|ANKMY1_uc010fze.1_Missense_Mutation_p.G87R|ANKMY1_uc002vze.2_Missense_Mutation_p.G179R	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	418							zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CCACACTGCCCGGTGTCCTGG	0.657													T	241463615	C	T	241463615	3	4	8	1	0	0	0	0	1	0	0	0	634	652	23	1	1617	1	ANKMY1	2	241463615	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	482327	241463615	1735758	300	7322											
KIF1A	547	broad.mit.edu	37	chr2	241712648	241712648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgatgacagcattgcagcGgatctgcttggcccggtcag	13	10	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:241712648G>A	uc002vzy.2	-	13	1209	c.1063C>T	c.(1063-1065)CGC>TGC	p.R355C	KIF1A_uc010fzk.2_Missense_Mutation_p.R355C|KIF1A_uc002vzz.1_Missense_Mutation_p.R355C	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	355	Kinesin-motor.				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)		GCATTGCAGCGGATCTGCTTG	0.627													A	241712648	G	A	241712648	3	1	8	1	0	0	0	0	1	0	0	0	8283	1116	39	1	4149	1	KIF1A	2	241712648	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	249033	241712648	1486725	301	7323											
KIF1A	547	broad.mit.edu	37	chr2	241726674	241726674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggggagccctacctccacGgagtaggacatgttgtcgtt	14	11	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:241726674G>A	uc002vzy.2	-	5	569	c.423C>T	c.(421-423)TCC>TCT	p.S141S	KIF1A_uc010fzk.2_Silent_p.S141S|KIF1A_uc002vzz.1_Silent_p.S141S	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	141	Kinesin-motor.				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)		CTACCTCCACGGAGTAGGACA	0.632													A	241726674	G	A	241726674	2	1	8	1	0	0	0	0	0	0	0	1	8283	1103	39	1		1	KIF1A	2	241726674	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	14026	241726674	1472699	302	7324											
MTERFD2	130916	broad.mit.edu	37	chr2	242039193	242039193	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgacccctccattggaGgctgtagtcagtttgcgcaa	10	11	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:242039193G>T	uc002wan.1	-	1	718	c.225C>A	c.(223-225)GCC>GCA	p.A75A	MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Silent_p.A46A	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	46										ovary(1)	1		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		CTCCATTGGAGGCTGTAGTCA	0.507													T	242039193	G	T	242039193	2	4	8	1	0	0	0	0	0	0	0	1	9920	987	35	5		5	MTERFD2	2	242039193	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	312519	242039193	1160180	303	7325											
PASK	23178	broad.mit.edu	37	chr2	242046054	242046054	+	Frame_Shift_Del	DEL	C	C	-													gagcctcgcctggaacggggCccccacaaagctcctgagcc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:242046053_242046053GC>G	uc002wao.2	-	17	4033	c.3900_3900GC>C	c.(3898-3900)ggcfs	p.G1300fs	PASK_uc010zol.2_Frame_Shift_Del_p.G1114fs|PASK_uc010zom.2_Frame_Shift_Del_p.G1265fs|PASK_uc010fzl.2_Frame_Shift_Del_p.G1307fs|PASK_uc010zon.2_Frame_Shift_Del_p.G1081fs|PASK_uc021vzf.1_Frame_Shift_Del_p.G1300fs	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	1300					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CTGGAACGGGGCCCCCACAAA	0.572													-	242046054	C	-	242046054	7	5	8	1	0	1	0	1	0	0	0	0	11472	739	26	0	76	0	PASK	2	242046054	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	6861	242046054	1153319	304	7326											
PASK	23178	broad.mit.edu	37	chr2	242066171	242066171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcccccagggaggtccGtggccaaggcatagcaggct	15	14	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:242066171G>A	uc002wao.1	-	10	2251	c.2159C>T	c.(2158-2160)ACG>ATG	p.T720M	PASK_uc010zol.1_Missense_Mutation_p.T534M|PASK_uc010zom.1_Missense_Mutation_p.T685M|PASK_uc010fzl.1_Missense_Mutation_p.T720M|PASK_uc010zon.1_Missense_Mutation_p.T501M|PASK_uc002wap.2_Missense_Mutation_p.T263M|PASK_uc002waq.2_Missense_Mutation_p.T720M	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	720					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGGGAGGTCCGTGGCCAAGGC	0.607													A	242066171	G	A	242066171	3	1	8	1	0	0	0	0	1	0	0	0	11472	1145	40	1	1848	1	PASK	2	242066171	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	20117	242066171	1133202	305	7327											
PASK	23178	broad.mit.edu	37	chr2	242066359	242066359	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttaatcaagcaggtctgCagctcttctcggtcgttttc	8	12	4	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:242066359C>T	uc002wao.1	-	10	2063	c.1971G>A	c.(1969-1971)CTG>CTA	p.L657L	PASK_uc010zol.1_Silent_p.L471L|PASK_uc010zom.1_Silent_p.L622L|PASK_uc010fzl.1_Silent_p.L657L|PASK_uc010zon.1_Silent_p.L438L|PASK_uc002wap.2_Silent_p.L200L|PASK_uc002waq.2_Silent_p.L657L	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	657					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGCAGGTCTGCAGCTCTTCTC	0.607													T	242066359	C	T	242066359	2	4	8	1	0	0	0	0	0	0	0	1	11472	697	25	2		2	PASK	2	242066359	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	188	242066359	1133014	306	7328											
ANO7	50636	broad.mit.edu	37	chr2	242163537	242163537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccactggacacccttcaCggttcccaaggccagccagc	8	19	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:242163537C>T	uc002wax.2	+	25	2874	c.2771C>T	c.(2770-2772)ACG>ATG	p.T924M		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	924	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						ACACCCTTCACGGTTCCCAAG	0.652													T	242163537	C	T	242163537	3	4	8	1	0	0	0	0	1	0	0	0	702	536	19	1	2941	1	ANO7	2	242163537	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	97178	242163537	1035836	307	7329											
HDLBP	3069	broad.mit.edu	37	chr2	242174626	242174626	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagcgaggcccgtgatggcGatgatgtcagactgcagctc	15	11	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:242174626G>A	uc002waz.2	-	23	3282	c.3054C>T	c.(3052-3054)ATC>ATT	p.I1018I	HDLBP_uc002wba.2_Silent_p.I1018I|HDLBP_uc002wbb.2_Silent_p.I970I	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1018	KH 12.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCGTGATGGCGATGATGTCAG	0.597													A	242174626	G	A	242174626	2	1	8	1	0	0	0	0	0	0	0	1	7025	1048	37	1		1	HDLBP	2	242174626	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	11089	242174626	1024747	308	7330											
ITPR1	3708	broad.mit.edu	37	chr3	4856237	4856237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagatgtactcaggaagccGtccaaagaggtaaattaatc	11	7	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:4856237G>A	uc003bqa.2	+	55	7896	c.7548G>A	c.(7546-7548)CCG>CCA	p.P2516P	ITPR1_uc010hca.1_Silent_p.P2501P|ITPR1_uc011asu.1_Silent_p.P527P|ITPR1_uc003bqc.2_Silent_p.P1486P|ITPR1_uc010hcc.1_Silent_p.P284P|ITPR1_uc011asv.1_Silent_p.P240P	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	2564	Lumenal (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCAGGAAGCCGTCCAAAGAGG	0.562													A	4856237	G	A	4856237	2	1	8	1	0	0	0	0	0	0	0	1	7920	1132	40	1		1	ITPR1	3	4856237	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08		4856237	193166193	309	7331											
GRM7	2917	broad.mit.edu	37	chr3	7620434	7620434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatggccactttcatccGctacaatgacacgcccattg	7	14	2	1	rs150165030	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:7620434G>A	uc003bqm.2	+	8	2115	c.1841G>A	c.(1840-1842)CGC>CAC	p.R614H	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.R614H|GRM7_uc003bql.2_Missense_Mutation_p.R614H|GRM7_uc003bqn.1_Missense_Mutation_p.R197H|GRM7_uc010hch.1_Missense_Mutation_p.R125H	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	614	Helical; Name=1; (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	ACTTTCATCCGCTACAATGAC	0.502													A	7620434	G	A	7620434	3	1	8	1	0	0	0	0	1	0	0	0	6802	1087	38	1	1871	1	GRM7	3	7620434	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2764197	7620434	190401996	310	7332											
C3orf32	51066	broad.mit.edu	37	chr3	8669394	8669394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcccctaccttcgcctgcCggaccccgcgcacagctgac	9	20	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:8669394C>T	uc003bqu.2	-	8	844	c.598G>A	c.(598-600)GGC>AGC	p.G200S	C3orf32_uc003bqz.2_Missense_Mutation_p.G200S|C3orf32_uc003bqt.2_Missense_Mutation_p.G149S|C3orf32_uc011atg.1_Missense_Mutation_p.G222S|C3orf32_uc003bqv.2_Missense_Mutation_p.G149S|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_RNA|C3orf32_uc003bqy.2_Missense_Mutation_p.G200S	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	hypothetical protein LOC51066	200	Cys-rich.									skin(1)	1						CTTCGCCTGCCGGACCCCGCG	0.592													T	8669394	C	T	8669394	3	4	8	1	0	0	0	0	1	0	0	0	2222	652	23	1	483	1	C3orf32	3	8669394	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1048960	8669394	189353036	311	7333											
BRPF1	7862	broad.mit.edu	37	chr3	9784848	9784848	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccgccaggcccggcgccAggcagaaaaaatgggcattg	14	13	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:9784848A>G	uc003bse.2	+	7	2603	c.2204A>G	c.(2203-2205)CAG>CGG	p.Q735R	BRPF1_uc003bsf.2_Missense_Mutation_p.Q741R|BRPF1_uc003bsg.2_Missense_Mutation_p.Q735R|BRPF1_uc011ati.1_Missense_Mutation_p.Q735R	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	735	Required for RUNX1 and RUNX2 transcriptional activation.|Interaction with MEAF6 and ING5.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					GCCCGGCGCCAGGCAGAAAAA	0.582													G	9784848	A	G	9784848	3	3	8	1	0	0	0	0	1	0	0	0	1520	188	7	3	2244	3	BRPF1	3	9784848	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1115454	9784848	188237582	312	7334											
CRELD1	78987	broad.mit.edu	37	chr3	9986201	9986201	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggggctgtggcggccatgActggctactggttgtcagag	17	8	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:9986201A>G	uc003bug.2	+	11	1319	c.1201A>G	c.(1201-1203)ACT>GCT	p.T401A	CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_3'UTR|CRELD1_uc003buh.2_Missense_Mutation_p.T401A|CRELD1_uc003bui.2_Missense_Mutation_p.T401A|CRELD1_uc003buj.2_RNA	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1 isoform 3	401	Helical; (Potential).				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			ovary(1)	1						GGCGGCCATGACTGGCTACTG	0.597													G	9986201	A	G	9986201	3	3	8	1	0	0	0	0	1	0	0	0	3866	275	10	3	1437	3	CRELD1	3	9986201	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	201353	9986201	188036229	313	7335											
FANCD2	2177	broad.mit.edu	37	chr3	10119789	10119789	+	Frame_Shift_Del	DEL	C	C	-													cagaagttgtgcaacttgggCcccctgagctgcttttcttg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:10119788_10119788GC>G	uc003buw.3	+	29	2961	c.2883_2883GC>G	c.(2881-2883)gggfs	p.G961fs	FANCD2_uc003bux.1_Frame_Shift_Del_p.G961fs|FANCD2_uc003buy.1_Frame_Shift_Del_p.G961fs|FANCD2_uc010hcw.1_Non-coding_Transcript	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	961					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGCAACTTGGGCCCCCTGAGC	0.448			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				-	10119789	C	-	10119789	7	5	8	1	0	1	0	1	0	0	0	0	5665	739	26	0	2998	0	FANCD2	3	10119789	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	133588	10119789	187902641	314	7336											
NUP210	23225	broad.mit.edu	37	chr3	13372050	13372050	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgatcatagaccctgatgcTagaaagcctttctcatcaac	6	13	3	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:13372050T>C	uc003bxv.1	-	30	4103	c.4020A>G	c.(4018-4020)CTA>CTG	p.L1340L		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1340	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					ACCCTGATGCTAGAAAGCCTT	0.502													C	13372050	T	C	13372050	2	2	8	1	0	0	0	0	0	0	0	1	10760	1509	53	3		3	NUP210	3	13372050	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	3252261	13372050	184650380	315	7337											
XPC	7508	broad.mit.edu	37	chr3	14199997	14199997	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctctgctttggagggccAggttcggaatcctcatcaga	11	11	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:14199997A>G	uc011ave.1	-	9	1490	c.1386T>C	c.(1384-1386)CCT>CCC	p.P462P	XPC_uc011avf.1_Silent_p.P269P|XPC_uc011avg.1_Silent_p.P425P	NM_004628	NP_004619	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	462					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			ovary(2)|breast(1)	3						TTGGAGGGCCAGGTTCGGAAT	0.572			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		NER	Xeroderma_Pigmentosum				G	14199997	A	G	14199997	2	3	8	1	0	0	0	0	0	0	0	1	17438	175	7	3		3	XPC	3	14199997	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	827947	14199997	183822433	316	7338											
METTL6	131965	broad.mit.edu	37	chr3	15455535	15455535	+	Frame_Shift_Del	DEL	A	A	-													ccattcatcttaccatcagtAaaaaaatatgatctggtccc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:15455534_15455534TA>T	uc003bzs.1	-	4	925	c.667_667TA>A	c.(667-669)actfs	p.T223fs	METTL6_uc011avp.1_Frame_Shift_Del_p.T178fs	NM_152396	NP_689609	Q8TCB7	METL6_HUMAN	Homo sapiens methyltransferase like 6 (METTL6), mRNA.	223							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TTACCATCAGTAAAAAAATAT	0.368													-	15455535	A	-	15455535	7	5	8	1	0	1	0	1	0	0	0	0	9504	359	13	0	196	0	METTL6	3	15455535	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	1255538	15455535	182566895	317	7339											
GALNTL2	117248	broad.mit.edu	37	chr3	16254150	16254150	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctaccaaaatcaggattcCcattcccccctcgaccagga	5	16	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:16254150C>A	uc003car.3	+	6	1747	c.1272C>A	c.(1270-1272)TCC>TCA	p.S424S	GALNTL2_uc003caq.3_Silent_p.S157S	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	424	Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1						ATCAGGATTCCCATTCCCCCC	0.542													A	16254150	C	A	16254150	2	1	8	1	0	0	0	0	0	0	0	1	6222	610	22	5		5	GALNTL2	3	16254150	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	798615	16254150	181768280	318	7340											
PLCL2	23228	broad.mit.edu	37	chr3	17052707	17052707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactgtctgaactggtcagCatctgcaaatcagttcagtt	9	9	5	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:17052707C>T	uc011awc.1	+	5	1950	c.1845C>T	c.(1843-1845)AGC>AGT	p.S615S	PLCL2_uc011awd.1_Silent_p.S497S	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 1	623	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(2)|ovary(1)|lung(1)	4						AACTGGTCAGCATCTGCAAAT	0.433													T	17052707	C	T	17052707	2	4	8	1	0	0	0	0	0	0	0	1	12040	709	25	2		2	PLCL2	3	17052707	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	798557	17052707	180969723	319	7341											
TBC1D5	9779	broad.mit.edu	37	chr3	17415970	17415970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctataagatttaccttctgaCcatcatgctcaaaagttgaa	5	9	3	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:17415970C>T	uc003cbf.2	-	12	2480	c.815G>A	c.(814-816)GGT>GAT	p.G272D	TBC1D5_uc010hev.2_Missense_Mutation_p.G272D|TBC1D5_uc003cbe.2_Missense_Mutation_p.G272D|TBC1D5_uc010hew.1_Missense_Mutation_p.G224D	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	272	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						TACCTTCTGACCATCATGCTC	0.318													T	17415970	C	T	17415970	3	4	8	1	0	0	0	0	1	0	0	0	15620	507	18	4	1686	4	TBC1D5	3	17415970	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	363263	17415970	180606460	320	7342											
RARB	5915	broad.mit.edu	37	chr3	25622154	25622154	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaaacgtctgcctggtttcActggcttgaccatcgcagac	9	13	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:25622154A>G	uc011awl.1	+	5	814	c.748A>G	c.(748-750)ACT>GCT	p.T250A	RARB_uc003cdi.1_Missense_Mutation_p.T131A|RARB_uc003cdh.2_Missense_Mutation_p.T243A	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	250	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GCCTGGTTTCACTGGCTTGAC	0.537													G	25622154	A	G	25622154	3	3	8	1	0	0	0	0	1	0	0	0	13053	159	6	3	745	3	RARB	3	25622154	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	8206184	25622154	172400276	321	7343											
EOMES	8320	broad.mit.edu	37	chr3	27759084	27759084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagccaccgctggggagggTtggccacctcttcgctctgt	13	14	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:27759084T>C	uc003cdx.2	-	6	1538	c.1538A>G	c.(1537-1539)AAC>AGC	p.N513S	EOMES_uc003cdy.3_Missense_Mutation_p.N532S|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.N237S	NM_005442	NP_005433	O95936	EOMES_HUMAN	eomesodermin	513					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|breast(1)	4						CTGGGGAGGGTTGGCCACCTC	0.517													C	27759084	T	C	27759084	3	2	8	1	0	0	0	0	1	0	0	0	5147	1725	60	3	526	3	EOMES	3	27759084	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	2136930	27759084	170263346	322	7344											
CMTM7	112616	broad.mit.edu	37	chr3	32493946	32493946	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgtcctataagatctcGtgtgtaacccagtccacagg	10	11	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:32493946G>A	uc003cey.1	+	4	731	c.495G>A	c.(493-495)TCG>TCA	p.S165S	CMTM7_uc003cez.1_Silent_p.S132S	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing	165	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0						ATAAGATCTCGTGTGTAACCC	0.507													A	32493946	G	A	32493946	2	1	8	1	0	0	0	0	0	0	0	1	3588	1132	40	1		1	CMTM7	3	32493946	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4734862	32493946	165528484	323	7345											
CCR4	1233	broad.mit.edu	37	chr3	32995805	32995805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctggcttttgttcactgCtgccttaatcccatcatcta	5	13	4	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:32995805C>T	uc003cfg.1	+	2	1059	c.891C>T	c.(889-891)TGC>TGT	p.C297C		NM_005508	NP_005499	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	297	Helical; Name=7; (Potential).				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				lung(1)	1						TTGTTCACTGCTGCCTTAATC	0.473													T	32995805	C	T	32995805	2	4	8	1	0	0	0	0	0	0	0	1	2943	805	28	2		2	CCR4	3	32995805	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	501859	32995805	165026625	324	7346											
MLH1	4292	broad.mit.edu	37	chr3	37092047	37092047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgtctataaagccttgcGctcacacattctgcctccta	5	14	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:37092047G>A	uc003cgl.2	+	19	2234	c.2174G>A	c.(2173-2175)CGC>CAC	p.R725H	MLH1_uc011aye.1_Intron|MLH1_uc011ayb.1_Missense_Mutation_p.R484H|MLH1_uc010hge.2_Missense_Mutation_p.R656H|MLH1_uc003cgn.3_Missense_Mutation_p.R484H|MLH1_uc011ayc.1_Missense_Mutation_p.R627H|MLH1_uc011ayd.1_Missense_Mutation_p.R484H|MLH1_uc003cgo.2_Missense_Mutation_p.R484H|MLH1_uc010hgk.2_Missense_Mutation_p.R312H|MLH1_uc010hgn.2_Missense_Mutation_p.A222T|MLH1_uc010hgm.2_RNA|MLH1_uc010hgo.2_3'UTR|MLH1_uc010hgp.2_Missense_Mutation_p.R108H|MLH1_uc010hgq.2_RNA	NM_000249	NP_000240	P40692	MLH1_HUMAN	MutL protein homolog 1	725					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						AAAGCCTTGCGCTCACACATT	0.433		1	D|Mis|N|F|S		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				A	37092047	G	A	37092047	3	1	8	1	0	0	0	0	1	0	0	0	9617	1087	38	1	2248	1	MLH1	3	37092047	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4096242	37092047	160930383	325	7347											
MYD88	4615	broad.mit.edu	37	chr3	38182330	38182330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaccaaatttgcactcagcCtctctccaggtaagctcaac	6	14	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:38182330C>T	uc003chx.2	+	4	974	c.790C>T	c.(790-792)CTC>TTC	p.L264F	MYD88_uc011ayi.1_Missense_Mutation_p.L256F|MYD88_uc011ayj.1_Silent_p.A195A|MYD88_uc011ayk.1_Silent_p.A150A|MYD88_uc011ayl.1_Missense_Mutation_p.L211F	NM_002468	NP_002459	Q99836	MYD88_HUMAN	myeloid differentiation primary response gene	243	TIR.				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(93)|breast(1)	94				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGCACTCAGCCTCTCTCCAGG	0.557			Mis 		ABC-DLBCL								T	38182330	C	T	38182330	3	4	8	1	0	0	0	0	1	0	0	0	10023	681	24	4	804	4	MYD88	3	38182330	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1090283	38182330	159840100	326	7348											
EXOG	9941	broad.mit.edu	37	chr3	38565416	38565416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcgaggacaacgtggcaGtcccctcacacctttataag	10	12	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:38565416G>A	uc003cih.2	+	6	766	c.670G>A	c.(670-672)GTC>ATC	p.V224I	EXOG_uc010hhg.2_RNA|EXOG_uc011ayq.1_Missense_Mutation_p.V174I|EXOG_uc003cij.2_Missense_Mutation_p.V84I|EXOG_uc010hhd.2_Missense_Mutation_p.V84I|EXOG_uc010hhe.2_Missense_Mutation_p.V84I|EXOG_uc003cik.2_Missense_Mutation_p.V84I|EXOG_uc010hhf.2_Missense_Mutation_p.V84I|EXOG_uc003cii.2_Missense_Mutation_p.V84I	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	224						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding				0						CAACGTGGCAGTCCCCTCACA	0.463													A	38565416	G	A	38565416	3	1	8	1	0	0	0	0	1	0	0	0	5312	1029	36	4	692	4	EXOG	3	38565416	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	383086	38565416	159457014	327	7349											
SCN11A	11280	broad.mit.edu	37	chr3	38936340	38936340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacaaaacaaaaagcccggCggaatcgatccagtgctaac	8	12	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:38936340C>T	uc011ays.1	-	15	2718	c.2519G>A	c.(2518-2520)CGC>CAC	p.R840H	SCN11A_uc010hhn.1_5'UTR	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	840					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAAAGCCCGGCGGAATCGATC	0.453													T	38936340	C	T	38936340	3	4	8	1	0	0	0	0	1	0	0	0	13913	768	27	1	2904	1	SCN11A	3	38936340	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	370924	38936340	159086090	328	7350											
WDR48	57599	broad.mit.edu	37	chr3	39119656	39119656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaattcataattttagagCctctggagattatgacaatg	9	5	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:39119656C>T	uc003cit.2	+	10	1011	c.1001C>T	c.(1000-1002)GCC>GTC	p.A334V	WDR48_uc011ayt.1_Missense_Mutation_p.A325V|WDR48_uc011ayu.1_Missense_Mutation_p.A252V|WDR48_uc011ayv.1_Intron|WDR48_uc003ciu.2_RNA	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	334	WD 7.				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			ovary(1)|breast(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AATTTTAGAGCCTCTGGAGAT	0.353													T	39119656	C	T	39119656	3	4	8	1	0	0	0	0	1	0	0	0	17298	739	26	2	1039	2	WDR48	3	39119656	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	183316	39119656	158902774	329	7351											
CX3CR1	1524	broad.mit.edu	37	chr3	39307048	39307048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaatcaacgtggactgagCgcccacacaggacagccagg	12	12	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:39307048C>T	uc003cjl.2	-	2	1045	c.953G>A	c.(952-954)CGC>CAC	p.R318H		NM_001337	NP_001328	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	318	Cytoplasmic (Potential).				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			lung(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GTGGACTGAGCGCCCACACAG	0.478													T	39307048	C	T	39307048	3	4	8	1	0	0	0	0	1	0	0	0	4075	768	27	1	118	1	CX3CR1	3	39307048	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	187392	39307048	158715382	330	7352											
ZNF445	353274	broad.mit.edu	37	chr3	44489280	44489280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaggttttcctacatttgGtacatttatagggcttctcc	7	8	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:44489280G>A	uc003cnf.2	-	8	2231	c.1883C>T	c.(1882-1884)ACC>ATC	p.T628I	ZNF445_uc011azv.1_Missense_Mutation_p.T616I|ZNF445_uc011azw.1_Missense_Mutation_p.T628I	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	628	C2H2-type 5.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CCTACATTTGGTACATTTATA	0.403													A	44489280	G	A	44489280	3	1	8	1	0	0	0	0	1	0	0	0	17915	1261	44	4	1216	4	ZNF445	3	44489280	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	5182232	44489280	153533150	331	7353											
LARS2	23395	broad.mit.edu	37	chr3	45527238	45527238	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tacccagcaggaggtccctgTcgttattttggccaaagctg	11	11	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:45527238T>A	uc003cop.1	+	11	1258	c.1073T>A	c.(1072-1074)GTC>GAC	p.V358D	LARS2_uc010hit.1_Missense_Mutation_p.V315D	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	358					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	GAGGTCCCTGTCGTTATTTTG	0.433													A	45527238	T	A	45527238	3	1	8	1	0	0	0	0	1	0	0	0	8635	1667	58	5	1107	5	LARS2	3	45527238	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	1037958	45527238	152495192	332	7354											
LIMD1	8994	broad.mit.edu	37	chr3	45637325	45637325	+	Frame_Shift_Del	DEL	G	G	-													ccaagatcaaactcggggctGgggggtgaggtttcaggtgt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:45637324_45637324TG>T	uc003coq.3	+	0	1002	c.953_953TG>T	c.(952-954)ctgfs	p.L318fs		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	Homo sapiens LIM domains containing 1 (LIMD1), mRNA.	318					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|nucleus	protein binding|zinc ion binding	p.G317G(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		AACTCGGGGCTGGGGGGTGAG	0.602													-	45637325	G	-	45637325	7	5	8	1	0	1	0	1	0	0	0	0	8798	1335	47	0	956	0	LIMD1	3	45637325	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	110087	45637325	152385105	333	7355											
ALS2CL	259173	broad.mit.edu	37	chr3	46718370	46718370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtaatcctgagacctacGcagctccctggagctctgca	10	14	1	1	rs140829916	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:46718370G>A	uc003cqa.1	-	17	2090	c.1900C>T	c.(1900-1902)CGT>TGT	p.R634C	ALS2CL_uc003cpx.1_5'UTR|ALS2CL_uc003cpy.1_RNA|ALS2CL_uc003cpz.1_Missense_Mutation_p.R149C|ALS2CL_uc003cqb.1_Missense_Mutation_p.R634C|ALS2CL_uc003cqc.1_RNA	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1	634					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TGAGACCTACGCAGCTCCCTG	0.662													A	46718370	G	A	46718370	3	1	8	1	0	0	0	0	1	0	0	0	551	1087	38	1	1001	1	ALS2CL	3	46718370	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1081045	46718370	151304060	334	7356											
PRSS45	377047	broad.mit.edu	37	chr3	46783906	46783906	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcagaggcacagggaccTgagaaggctccattgctcat	13	11	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:46783906T>C	uc010hjl.2	-	4	621	c.621A>G	c.(619-621)TCA>TCG	p.S207S	PRSS45_uc011bam.1_RNA	NM_199183	NP_954652	Q7RTY3	PRS45_HUMAN	testis serine protease 5	239					proteolysis		serine-type endopeptidase activity				0						CACAGGGACCTGAGAAGGCTC	0.567													C	46783906	T	C	46783906	2	2	8	1	0	0	0	0	0	0	0	1	12629	1567	55	3		3	PRSS45	3	46783906	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	65536	46783906	151238524	335	7357											
SMARCC1	6599	broad.mit.edu	37	chr3	47719763	47719763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatactcttgggggtttagaCgatacgtgtcaatcataaaa	9	6	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:47719763C>T	uc003crq.2	-	16	1614	c.1496G>A	c.(1495-1497)CGT>CAT	p.R499H	SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.R390H	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	499	SWIRM.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	p.R499C(1)		skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GGGGTTTAGACGATACGTGTC	0.383													T	47719763	C	T	47719763	3	4	8	1	0	0	0	0	1	0	0	0	14775	536	19	1	1873	1	SMARCC1	3	47719763	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	935857	47719763	150302667	336	7358											
ZNF589	51385	broad.mit.edu	37	chr3	48302376	48302376	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagactgagccttgagcagaGgaacctatacaaagaagtga	12	7	0	6			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:48302376G>T	uc003csl.3	+	3	236	c.170G>T	c.(169-171)AGG>ATG	p.R57M	ZNF589_uc010hjt.1_Missense_Mutation_p.R55M|ZNF589_uc003csn.2_RNA|ZNF589_uc011bbg.1_Missense_Mutation_p.R57M|ZNF589_uc003csm.2_RNA	NM_016089	NP_057173	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	57	KRAB.				regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTGAGCAGAGGAACCTATAC	0.388													T	48302376	G	T	48302376	3	4	8	1	0	0	0	0	1	0	0	0	18018	1000	35	5	180	5	ZNF589	3	48302376	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	582613	48302376	149720054	337	7359											
NDUFAF3	25915	broad.mit.edu	37	chr3	49059972	49059972	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcggtggtgcagtggaacGtgagtcctggcccgcagtgt	16	10	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:49059972G>A	uc003cvq.2	+	2	774	c.270_splice	c.e2+1	p.N90_splice	DALRD3_uc003cvm.1_5'Flank|DALRD3_uc010hko.1_5'Flank|uc011bcb.1_5'Flank|MIR425_hsa-mir-425|MI0001448_5'Flank|NDUFAF3_uc003cvn.2_Splice_Site_p.N33_splice|uc003cvo.1_5'Flank|MIR191_hsa-mir-191|MI0000465_5'Flank|NDUFAF3_uc003cvp.2_Splice_Site_p.N33_splice|NDUFAF3_uc003cvr.2_Splice_Site_p.N33_splice|NDUFAF3_uc003cvs.2_Splice_Site_p.N33_splice	NM_199069	NP_951032	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha						mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding				0						GCAGTGGAACGTGAGTCCTGG	0.602													A	49059972	G	A	49059972	5	1	8	1	0	0	0	0	0	0	1	0	10276	1159	40	1	277	1	NDUFAF3	3	49059972	Splice_Site	SNP	G	TCGA-BR-4201-01A-01D-1126-08	757596	49059972	148962458	338	7360											
USP19	10869	broad.mit.edu	37	chr3	49149019	49149019	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcagaagaaattccactgGtgctgggcacaggaccccgg	12	12	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:49149019G>T	uc003cwd.1	-	20	2983	c.2822C>A	c.(2821-2823)ACC>AAC	p.T941N	USP19_uc003cwa.2_Missense_Mutation_p.T749N|USP19_uc003cvz.3_Missense_Mutation_p.T1044N|USP19_uc011bcg.1_Missense_Mutation_p.T1032N|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.T699N|USP19_uc011bch.1_Missense_Mutation_p.T1042N	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	941	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AATTCCACTGGTGCTGGGCAC	0.632													T	49149019	G	T	49149019	3	4	8	1	0	0	0	0	1	0	0	0	17047	1261	44	5	1162	5	USP19	3	49149019	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	89047	49149019	148873411	339	7361											
MST1R	4486	broad.mit.edu	37	chr3	49933705	49933705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggggtgggggtaggaagcGaaagccaggcagtgtaaagc	19	5	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:49933705G>A	uc003cxy.3	-	10	2836	c.2572C>T	c.(2572-2574)CGC>TGC	p.R858C	MST1R_uc011bdd.1_Missense_Mutation_p.R859C|MST1R_uc011bdc.1_5'UTR	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	858	IPT/TIG 3.|Extracellular (Potential).				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GGTAGGAAGCGAAAGCCAGGC	0.582													A	49933705	G	A	49933705	3	1	8	1	0	0	0	0	1	0	0	0	9891	1058	37	1	1674	1	MST1R	3	49933705	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	784686	49933705	148088725	340	7362											
RBM6	10180	broad.mit.edu	37	chr3	50098576	50098576	+	Frame_Shift_Del	DEL	A	A	-													ttgcctttctgtgatagggtAaaaaatatttccgagatagg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:50098575_50098575TA>T	uc003cyc.3	+	12	2522	c.2274_2274TA>T	c.(2272-2274)ggtfs	p.G758fs	RBM6_uc010hlc.2_Frame_Shift_Del_p.G277fs|RBM6_uc003cyd.3_Frame_Shift_Del_p.G236fs|RBM6_uc011bdi.2_Frame_Shift_Del_p.G100fs|RBM6_uc003cye.3_Frame_Shift_Del_p.G236fs|RBM6_uc010hlf.2_Non-coding_Transcript|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	758					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TGTGATAGGGTAAAAAATATT	0.373													-	50098576	A	-	50098576	7	5	8	1	0	1	0	1	0	0	0	0	13144	363	13	0	2321	0	RBM6	3	50098576	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	164871	50098576	147923854	341	7363											
NAT6	24142	broad.mit.edu	37	chr3	50334066	50334066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccatccagaatatggggcGccccctcacattttgatatt	7	12	1	2	rs74426485	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:50334066G>A	uc003czi.2	-	2	932	c.829C>T	c.(829-831)CGC>TGC	p.R277C	HYAL3_uc003czc.1_Intron|HYAL3_uc003czd.1_Intron|HYAL3_uc003cze.1_Intron|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Intron|NAT6_uc003czj.2_Missense_Mutation_p.R299C|NAT6_uc003czk.3_Missense_Mutation_p.R277C|NAT6_uc003czl.1_Missense_Mutation_p.R277C	NM_012191	NP_036323	Q93015	NAT6_HUMAN	N-acetyltransferase 6	277						cytoplasm	N-acetyltransferase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AATATGGGGCGCCCCCTCACA	0.547													A	50334066	G	A	50334066	3	1	8	1	0	0	0	0	1	0	0	0	10178	1087	38	1	35	1	NAT6	3	50334066	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	235490	50334066	147688364	342	7364											
RASSF1	11186	broad.mit.edu	37	chr3	50369149	50369149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaggtaaaaggaagtgcGgcgcctgacacttgtgcccc	15	11	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:50369149G>A	uc003dad.1	-	4	744	c.613C>T	c.(613-615)CGC>TGC	p.R205C	RASSF1_uc003daa.1_Missense_Mutation_p.R50C|RASSF1_uc003dab.1_Missense_Mutation_p.R131C|RASSF1_uc003dac.2_Missense_Mutation_p.R50C|RASSF1_uc003dae.1_Missense_Mutation_p.R201C|RASSF1_uc010hlk.1_RNA|RASSF1_uc003daf.1_Missense_Mutation_p.R50C	NM_170714	NP_733832	Q9NS23	RASF1_HUMAN	Ras association domain family 1 isoform D	205	Ras-associating.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AAGGAAGTGCGGCGCCTGACA	0.617													A	50369149	G	A	50369149	3	1	8	1	0	0	0	0	1	0	0	0	13084	1116	39	1	433	1	RASSF1	3	50369149	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	35083	50369149	147653281	343	7365											
MAPKAPK3	7867	broad.mit.edu	37	chr3	50684208	50684209	+	Frame_Shift_Del	DEL	CA	CA	-													ctcctgttgaagacagacccCacagagaggctgaccatcac							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:50684207_50684208CCA>C	uc003day.2	+	10	1508_1509	c.866_867CCA>C	c.(865-867)cccfs	p.P289fs	MAPKAPK3_uc003daz.2_Frame_Shift_Del_p.P289fs|MAPKAPK3_uc003dba.2_Frame_Shift_Del_p.P289fs|MAPKAPK3_uc010hlr.2_Frame_Shift_Del_p.P289fs	NM_001243926	NP_001230855	Q16644	MAPK3_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA.	289	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		AAGACAGACCCCACAGAGAGGC	0.619													-	50684209	CA	-	50684208	7	5	8	1	0	1	0	1	0	0	0	0	9290	581	21	0	897	0	MAPKAPK3	3	50684208	Frame_Shift_Del	DEL	CA	TCGA-BR-4201-01A-01D-1126-08	315059	50684208	147338222	344	7366											
GRM2	2912	broad.mit.edu	37	chr3	51746888	51746888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgcttgctgccagccagCgcctcaatgccagcttcacc	9	17	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:51746888C>T	uc010hlv.2	+	3	1089	c.850C>T	c.(850-852)CGC>TGC	p.R284C	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	284	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TGCCAGCCAGCGCCTCAATGC	0.657													T	51746888	C	T	51746888	3	4	8	1	0	0	0	0	1	0	0	0	6797	768	27	1	856	1	GRM2	3	51746888	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1062680	51746888	146275542	345	7367											
ABHD14A	25864	broad.mit.edu	37	chr3	52014951	52014951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accactctgtggtgaagctaCgcaatgcaggccatgcctgt	11	12	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:52014951C>T	uc003dco.2	+	5	843	c.733C>T	c.(733-735)CGC>TGC	p.R245C	ABHD14B_uc003dcn.2_Intron|ACY1_uc011bea.1_Intron|ACY1_uc011beb.1_5'Flank|ACY1_uc003dcp.2_5'Flank|ACY1_uc003dcq.2_5'Flank	NM_015407	NP_056222	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	245						cytoplasm|integral to membrane	hydrolase activity				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGTGAAGCTACGCAATGCAGG	0.572													T	52014951	C	T	52014951	3	4	8	1	0	0	0	0	1	0	0	0	79	536	19	1	751	1	ABHD14A	3	52014951	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	268063	52014951	146007479	346	7368											
DNAH1	25981	broad.mit.edu	37	chr3	52400871	52400871	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatcacgatgggccagctGtacggggagtttgacctcct	12	12	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:52400871G>A	uc011bef.1	+	36	5994	c.5733G>A	c.(5731-5733)CTG>CTA	p.L1911L		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1911	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGGCCAGCTGTACGGGGAGT	0.612													A	52400871	G	A	52400871	2	1	8	1	0	0	0	0	0	0	0	1	4597	1364	48	4		4	DNAH1	3	52400871	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	385920	52400871	145621559	347	7369											
BAP1	8314	broad.mit.edu	37	chr3	52437234	52437234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctgtccgtggcttccaCgacctccttctccactgggc	9	17	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:52437234C>T	uc003ddx.2	-	14	1925	c.1810G>A	c.(1810-1812)GTG>ATG	p.V604M	BAP1_uc003ddw.2_RNA|BAP1_uc010hmg.2_RNA|BAP1_uc010hmh.2_Intron	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	604	Interaction with BRCA1.				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GTGGCTTCCACGACCTCCTTC	0.607			N|Mis|F|S|O		uveal melanoma|breast|NSCLC								T	52437234	C	T	52437234	3	4	8	1	0	0	0	0	1	0	0	0	1311	536	19	1	395	1	BAP1	3	52437234	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	36363	52437234	145585196	348	7370											
GLT8D1	55830	broad.mit.edu	37	chr3	52729486	52729486	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggttagttatattctgtcGtttccattccgtcaggtttg	9	7	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:52729486G>A	uc003dfi.3	-	8	902	c.763C>T	c.(763-765)CGA>TGA	p.R255*	GLT8D1_uc003dfj.2_Nonsense_Mutation_p.R255*|GLT8D1_uc003dfk.2_Nonsense_Mutation_p.R255*|GLT8D1_uc003dfl.2_Nonsense_Mutation_p.R255*|GLT8D1_uc003dfm.2_Nonsense_Mutation_p.R255*|GLT8D1_uc003dfn.2_Nonsense_Mutation_p.R255*|GLT8D1_uc003dfo.1_Nonsense_Mutation_p.R255*	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	255	Lumenal (Potential).					integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups				0				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ATATTCTGTCGTTTCCATTCC	0.363													A	52729486	G	A	52729486	4	1	8	1	0	0	0	0	0	1	0	0	6469	1153	40	1	364	1	GLT8D1	3	52729486	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	292252	52729486	145292944	349	7371											
ITIH4	3700	broad.mit.edu	37	chr3	52858944	52858944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggttaggccctcgggggCaaagtagtgtacaaagtagc	15	7	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:52858944C>T	uc003dfz.2	-	7	826	c.790G>A	c.(790-792)GCC>ACC	p.A264T	ITIH4_uc011bel.1_5'UTR|ITIH4_uc003dfy.2_Missense_Mutation_p.A128T|ITIH4_uc011bem.1_Missense_Mutation_p.A264T|ITIH4_uc011ben.1_Missense_Mutation_p.A264T	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	264					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCCTCGGGGGCAAAGTAGTGT	0.542													T	52858944	C	T	52858944	3	4	8	1	0	0	0	0	1	0	0	0	7906	710	25	2	2074	2	ITIH4	3	52858944	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	129458	52858944	145163486	350	7372											
CACNA1D	776	broad.mit.edu	37	chr3	53529215	53529216	+	Frame_Shift_Ins	INS	-	-	A													gatgatgatgatgatgatgaINSaaaaaatgcagcatcaacgg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:53529214_53529215G>GA	uc003dgv.4	+	0	184_185	c.21_22G>GA	c.(19-24)atgaaafs	p.M7fs	CACNA1D_uc003dgu.4_Frame_Shift_Ins_p.M7fs|CACNA1D_uc003dgy.4_Frame_Shift_Ins_p.M7fs	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	7	Poly-Met.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	tgatgatgatgaAAAAAATGCA	0.574													A	53529216	-	A	53529215	7	5	8	1	0	1	1	0	0	0	0	0	2541	247	9	0	24	0	CACNA1D	3	53529215	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	670271	53529215	144493215	351	7373											
CACNA1D	776	broad.mit.edu	37	chr3	53766932	53766932	+	Frame_Shift_Del	DEL	A	A	-													ctcggagttgaacatgaaggAaaaaattgcccccatccctg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:53766931_53766931GA>G	uc003dgv.4	+	18	2726	c.2563_2563GA>G	c.(2563-2565)gaafs	p.E855fs	CACNA1D_uc003dgu.4_Frame_Shift_Del_p.E875fs|CACNA1D_uc003dgy.4_Frame_Shift_Del_p.E855fs|CACNA1D_uc003dgw.4_Frame_Shift_Del_p.E522fs|CACNA1D_uc003dgx.1_Frame_Shift_Del_p.E3fs	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	855					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GAACATGAAGGAAAAAATTGC	0.512													-	53766932	A	-	53766932	7	5	8	1	0	1	0	1	0	0	0	0	2541	246	9	0	2810	0	CACNA1D	3	53766932	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	237717	53766932	144255498	352	7374											
IL17RD	54756	broad.mit.edu	37	chr3	57132279	57132279	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataccggggacgtctccctcGcaggaataatcaaagtagac	10	11	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:57132279G>T	uc003dil.2	-	12	1541	c.1452C>A	c.(1450-1452)TGC>TGA	p.C484*	IL17RD_uc003dik.2_Nonsense_Mutation_p.C460*|IL17RD_uc010hna.2_Nonsense_Mutation_p.C340*|IL17RD_uc011bex.1_Nonsense_Mutation_p.C340*	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D precursor	484	SEFIR.|Cytoplasmic (Potential).					Golgi membrane|integral to membrane|plasma membrane	receptor activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CGTCTCCCTCGCAGGAATAAT	0.572													T	57132279	G	T	57132279	4	4	8	1	0	0	0	0	0	1	0	0	7642	1079	38	5	775	5	IL17RD	3	57132279	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3365347	57132279	140890151	353	7375											
PTPRG	5793	broad.mit.edu	37	chr3	62253473	62253473	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaatcattgtgatgattacGaaccttgtggaaaaaggaag	12	4	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:62253473G>A	uc003dlb.2	+	19	3572	c.2853G>A	c.(2851-2853)ACG>ACA	p.T951T	PTPRG_uc003dlc.2_Silent_p.T922T|PTPRG_uc011bfi.1_Silent_p.T197T|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	951	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TGATGATTACGAACCTTGTGG	0.398													A	62253473	G	A	62253473	2	1	8	1	0	0	0	0	0	0	0	1	12802	1045	37	1		1	PTPRG	3	62253473	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	5121194	62253473	135768957	354	7376											
FEZF2	55079	broad.mit.edu	37	chr3	62355818	62355818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagggcccacgctgtcGtggagtttgcgcacatgttt	14	11	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:62355818G>A	uc003dlh.2	-	4	1527	c.1320C>T	c.(1318-1320)CAC>CAT	p.H440H	FEZF2_uc003dli.2_Silent_p.H440H	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	440	C2H2-type 6.				transcription, DNA-dependent	nucleus	zinc ion binding			lung(1)	1		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CCACGCTGTCGTGGAGTTTGC	0.552													A	62355818	G	A	62355818	2	1	8	1	0	0	0	0	0	0	0	1	5826	1136	40	1		1	FEZF2	3	62355818	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	102345	62355818	135666612	355	7377											
SYNPR	132204	broad.mit.edu	37	chr3	63466538	63466538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttgcatttgcaacatgcGgtggctattctggaggcctg	12	9	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:63466538G>A	uc003dlq.2	+	2	424	c.55G>A	c.(55-57)GGT>AGT	p.G19S	SYNPR_uc003dlp.2_Missense_Mutation_p.G39S|SYNPR_uc011bfk.1_Intron|SYNPR_uc011bfl.1_RNA|SYNPR_uc010hnt.2_Missense_Mutation_p.G28S|SYNPR_uc011bfm.1_RNA	NM_144642	NP_653243	Q8TBG9	SYNPR_HUMAN	synaptoporin isoform 2	19	MARVEL.|Helical; (Potential).					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		TGCAACATGCGGTGGCTATTC	0.438													A	63466538	G	A	63466538	3	1	8	1	0	0	0	0	1	0	0	0	15456	1116	39	1	153	1	SYNPR	3	63466538	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1110720	63466538	134555892	356	7378											
ADAMTS9	56999	broad.mit.edu	37	chr3	64547403	64547403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccacatgcctctgctgtaCgcctcggccacaggacacag	10	17	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:64547403C>T	uc003dmg.2	-	30	4581	c.4549G>A	c.(4549-4551)GTA>ATA	p.V1517I	ADAMTS9_uc011bfo.1_Missense_Mutation_p.V1489I|ADAMTS9_uc003dmh.1_Missense_Mutation_p.V1346I|ADAMTS9_uc011bfp.1_Missense_Mutation_p.V428I|uc003dmi.1_RNA	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1517	TSP type-1 12.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTCTGCTGTACGCCTCGGCCA	0.567													T	64547403	C	T	64547403	3	4	8	1	0	0	0	0	1	0	0	0	273	536	19	1	1298	1	ADAMTS9	3	64547403	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1080865	64547403	133475027	357	7379											
LMOD3	56203	broad.mit.edu	37	chr3	69167997	69167997	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggttttctcgggtggttcTctggcttccggcatccgaga	13	10	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:69167997T>C	uc003dns.2	-	2	1718	c.1509A>G	c.(1507-1509)AGA>AGG	p.R503R	LMOD3_uc003dnt.2_Silent_p.R503R	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	503						cytoplasm|cytoskeleton	tropomyosin binding			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CGGGTGGTTCTCTGGCTTCCG	0.547													C	69167997	T	C	69167997	2	2	8	1	0	0	0	0	0	0	0	1	8858	1548	54	3		3	LMOD3	3	69167997	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	4620594	69167997	128854433	358	7380											
OR5H2	79310	broad.mit.edu	37	chr3	98001806	98001806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacaggacttacatatcaGccagagtggaaaatgcccct	8	12	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:98001806G>A	uc003dsj.1	+	1	75	c.75G>A	c.(73-75)CAG>CAA	p.Q25Q		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	25	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3						TTACATATCAGCCAGAGTGGA	0.423													A	98001806	G	A	98001806	2	1	8	1	0	0	0	0	0	0	0	1	11162	962	34	2		2	OR5H2	3	98001806	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	28833809	98001806	100020624	359	7381											
CEP97	79598	broad.mit.edu	37	chr3	101451389	101451389	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgattatgaacaatcctTgtgtgatggcaacaccatcc	8	10	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:101451389T>C	uc003dvk.1	+	6	646	c.619T>C	c.(619-621)TGT>CGT	p.C207R	CEP97_uc010hpm.1_Missense_Mutation_p.C173R|CEP97_uc011bhf.1_Missense_Mutation_p.C207R|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Missense_Mutation_p.C45R	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	207						centrosome|nucleus	protein binding			ovary(2)	2						GAACAATCCTTGTGTGATGGC	0.413													C	101451389	T	C	101451389	3	2	8	1	0	0	0	0	1	0	0	0	3263	1812	63	3	641	3	CEP97	3	101451389	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	3449583	101451389	96571041	360	7382											
ALCAM	214	broad.mit.edu	37	chr3	105250904	105250904	+	Frame_Shift_Del	DEL	A	A	-													tttctcgaaacagagcagctAaaaaaggtaagaattgtttt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:105250903_105250903TA>T	uc003dvx.3	+	3	1148	c.452_452TA>T	c.(451-453)ctafs	p.L151fs	ALCAM_uc003dvw.2_Frame_Shift_Del_p.L151fs|ALCAM_uc003dvy.3_Frame_Shift_Del_p.L151fs|ALCAM_uc011bhh.1_Frame_Shift_Del_p.L100fs|ALCAM_uc010hpp.3_5'Flank	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	151	Ig-like V-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.L151L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ACAGAGCAGCTAAAAAAGGTA	0.338													-	105250904	A	-	105250904	7	5	8	1	0	1	0	1	0	0	0	0	487	349	13	0	467	0	ALCAM	3	105250904	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	3799515	105250904	92771526	361	7383											
CD96	10225	broad.mit.edu	37	chr3	111319601	111319601	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attactaatgaagagagaaaAggcaaagatggatttttgga	11	2	0	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:111319601A>G	uc003dxw.2	+	8	1145	c.975A>G	c.(973-975)AAA>AAG	p.K325K	CD96_uc003dxv.2_Silent_p.K309K|CD96_uc003dxx.2_Silent_p.K309K|CD96_uc010hpy.1_Silent_p.K309K	NM_198196	NP_937839	P40200	TACT_HUMAN	CD96 antigen isoform 1 precursor	325	Extracellular (Potential).|Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				skin(2)|central_nervous_system(1)	3						AAGAGAGAAAAGGCAAAGATG	0.373									Opitz_Trigonocephaly_syndrome				G	111319601	A	G	111319601	2	3	8	1	0	0	0	0	0	0	0	1	3048	69	3	3		3	CD96	3	111319601	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	6068697	111319601	86702829	362	7384											
BOC	91653	broad.mit.edu	37	chr3	112999994	112999994	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaacgtgatgatctgtgagAccaaaggtgaagctctttgg	13	7	2	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:112999994A>G	uc003dzx.2	+	15	3046	c.2425A>G	c.(2425-2427)ACC>GCC	p.T809A	BOC_uc003dzy.2_Missense_Mutation_p.T809A|BOC_uc003dzz.2_Missense_Mutation_p.T810A|BOC_uc003eab.2_Missense_Mutation_p.T510A|BOC_uc003eac.2_Missense_Mutation_p.T124A	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	809	Fibronectin type-III 3.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			GATCTGTGAGACCAAAGGTGA	0.547													G	112999994	A	G	112999994	3	3	8	1	0	0	0	0	1	0	0	0	1481	275	10	3	2475	3	BOC	3	112999994	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1680393	112999994	85022436	363	7385											
GRAMD1C	54762	broad.mit.edu	37	chr3	113627946	113627946	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctctggacaaaagcagcActtcagattctgttgatgaa	8	8	3	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:113627946A>G	uc003eaq.3	+	9	1007	c.931A>G	c.(931-933)ACT>GCT	p.T311A	GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA|GRAMD1C_uc003ear.2_Missense_Mutation_p.T144A|GRAMD1C_uc003eas.2_Missense_Mutation_p.T106A	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	311						integral to membrane				ovary(2)|skin(1)	3						CAAAAGCAGCACTTCAGATTC	0.299													G	113627946	A	G	113627946	3	3	8	1	0	0	0	0	1	0	0	0	6749	159	6	3	965	3	GRAMD1C	3	113627946	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	627952	113627946	84394484	364	7386											
ZBTB20	26137	broad.mit.edu	37	chr3	114069597	114069597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgacagtgataacagtgCtgtccatctccacttcattg	8	11	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:114069597C>T	uc003ebi.2	-	4	1508	c.1328G>A	c.(1327-1329)AGC>AAC	p.S443N	ZBTB20_uc003ebj.2_Missense_Mutation_p.S370N|ZBTB20_uc010hqp.2_Missense_Mutation_p.S370N|ZBTB20_uc003ebk.2_Missense_Mutation_p.S370N|ZBTB20_uc003ebl.2_Missense_Mutation_p.S370N|ZBTB20_uc003ebm.2_Missense_Mutation_p.S370N|ZBTB20_uc003ebn.2_Missense_Mutation_p.S370N|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GATAACAGTGCTGTCCATCTC	0.567													T	114069597	C	T	114069597	3	4	8	1	0	0	0	0	1	0	0	0	17526	797	28	2	905	2	ZBTB20	3	114069597	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	441651	114069597	83952833	365	7387											
ZBTB20	26137	broad.mit.edu	37	chr3	114070442	114070442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgcgagacccgtagcacGccgctgtacatgaagtcaat	11	12	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:114070442G>A	uc003ebi.2	-	4	663	c.483C>T	c.(481-483)GGC>GGT	p.G161G	ZBTB20_uc003ebj.2_Silent_p.G88G|ZBTB20_uc010hqp.2_Silent_p.G88G|ZBTB20_uc003ebk.2_Silent_p.G88G|ZBTB20_uc003ebl.2_Silent_p.G88G|ZBTB20_uc003ebm.2_Silent_p.G88G|ZBTB20_uc003ebn.2_Silent_p.G88G|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	161	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CCCGTAGCACGCCGCTGTACA	0.567													A	114070442	G	A	114070442	2	1	8	1	0	0	0	0	0	0	0	1	17526	1074	38	1		1	ZBTB20	3	114070442	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	845	114070442	83951988	366	7388											
GAP43	2596	broad.mit.edu	37	chr3	115395025	115395025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaagctgctgaggctgaaGctaataagaaggatgaagcc	12	8	0	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:115395025G>A	uc003ebq.2	+	2	582	c.196G>A	c.(196-198)GCT>ACT	p.A66T	GAP43_uc003ebr.2_Missense_Mutation_p.A102T	NM_002045	NP_002036	P17677	NEUM_HUMAN	growth associated protein 43 isoform 2	66					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.164)		TGAGGCTGAAGCTAATAAGAA	0.527													A	115395025	G	A	115395025	3	1	8	1	0	0	0	0	1	0	0	0	6235	971	34	2	344	2	GAP43	3	115395025	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1324583	115395025	82627405	367	7389											
IGSF11	152404	broad.mit.edu	37	chr3	118621438	118621438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaattcgttccagtgttgCgtggctgatggtgtaggaat	13	7	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:118621438C>T	uc003ebw.2	-	7	1472	c.1225G>A	c.(1225-1227)GCA>ACA	p.A409T	IGSF11_uc011biv.1_Missense_Mutation_p.A381T|IGSF11_uc003ebx.2_Missense_Mutation_p.A385T|IGSF11_uc003eby.2_Missense_Mutation_p.A408T|IGSF11_uc003ebz.2_Missense_Mutation_p.A384T|IGSF11_uc010hqs.2_Missense_Mutation_p.A408T	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	409	Cytoplasmic (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0						TCCAGTGTTGCGTGGCTGATG	0.537													T	118621438	C	T	118621438	3	4	8	1	0	0	0	0	1	0	0	0	7598	768	27	1	74	1	IGSF11	3	118621438	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	3226413	118621438	79400992	368	7390											
B4GALT4	8702	broad.mit.edu	37	chr3	118931514	118931514	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagactcgtgacacttggTgtaagagcttcatcctaaag	9	10	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:118931514T>C	uc003ecg.2	-	8	1558	c.917A>G	c.(916-918)CAC>CGC	p.H306R	B4GALT4_uc003ece.1_3'UTR|B4GALT4_uc003ecf.2_RNA|B4GALT4_uc003ech.2_Missense_Mutation_p.H306R|B4GALT4_uc003eci.2_Missense_Mutation_p.H306R	NM_212543	NP_997708	O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	306	Lumenal (Potential).				membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity				0				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	TGACACTTGGTGTAAGAGCTT	0.363													C	118931514	T	C	118931514	3	2	8	1	0	0	0	0	1	0	0	0	1273	1696	59	3	121	3	B4GALT4	3	118931514	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	310076	118931514	79090916	369	7391											
POLQ	10721	broad.mit.edu	37	chr3	121238922	121238925	+	Frame_Shift_Del	DEL	AAGT	AAGT	-													aatgatatccctctcctcaaAagtaagacctaaaaaaagga							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:121238921_121238924AAAGT>A	uc003eee.4	-	8	1391_1394	c.1262_1265ACTTT>T	c.(1261-1266)acttttfs	p.T421fs		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	421	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCTCTCCTCAAAAGTAAGACCTAA	0.382								DNA polymerases (catalytic subunits)					-	121238925	AAGT	-	121238922	7	5	8	1	0	1	0	1	0	0	0	0	12208	14	1	0	6596	0	POLQ	3	121238922	Frame_Shift_Del	DEL	AAGT	TCGA-BR-4201-01A-01D-1126-08	2307408	121238922	76783508	370	7392											
CASR	846	broad.mit.edu	37	chr3	122003470	122003470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcccgggccacgctgcGccgcagcaacgtctcccgca	13	19	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:122003470G>A	uc003eev.3	+	7	3041	c.2669G>A	c.(2668-2670)CGC>CAC	p.R890H	CASR_uc003eew.3_Missense_Mutation_p.R900H	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	890	Cytoplasmic (Potential).|Interaction with RNF19A.				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCACGCTGCGCCGCAGCAAC	0.627													A	122003470	G	A	122003470	3	1	8	1	0	0	0	0	1	0	0	0	2682	1087	38	1	2721	1	CASR	3	122003470	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	764548	122003470	76018960	371	7393											
SEMA5B	54437	broad.mit.edu	37	chr3	122629836	122629836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacactgctagggtcaggaGcccagagcccaagaagcagg	14	11	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:122629836G>A	uc003efz.1	-	22	3452	c.3148C>T	c.(3148-3150)CTC>TTC	p.L1050F	SEMA5B_uc011bju.1_Missense_Mutation_p.L956F|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.L1050F|SEMA5B_uc003efy.1_Missense_Mutation_p.L28F	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	1050	Helical; Signal-anchor for type III membrane protein; (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		AGGGTCAGGAGCCCAGAGCCC	0.577													A	122629836	G	A	122629836	3	1	8	1	0	0	0	0	1	0	0	0	14038	971	34	2	315	2	SEMA5B	3	122629836	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	626366	122629836	75392594	372	7394											
MYLK	4638	broad.mit.edu	37	chr3	123368044	123368045	+	Splice_Site	INS	-	-	G													cacttcatccttcggctctgINSgggggggcacaaggaaggac					rs138786404		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:123368043_123368044T>TG	uc003ego.3	-	25	4571	c.4289_splice	c.e25-1	p.E1430_splice	MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.E230_splice|MYLK_uc011bjw.2_Splice_Site_p.E1430_splice|MYLK_uc003egp.3_Splice_Site_p.E1361_splice|MYLK_uc003egq.3_Splice_Site_p.E1430_splice|MYLK_uc003egr.3_Splice_Site_p.E1361_splice|MYLK_uc003egs.3_Splice_Site_p.E1254_splice	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1430	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCAC	0.624													G	123368045	-	G	123368044	8	5	8	1	0	1	1	0	0	0	1	0	10056	1363	47	0		0	MYLK	3	123368044	Splice_Site	INS	-	TCGA-BR-4201-01A-01D-1126-08	738208	123368044	74654386	373	7395											
KALRN	8997	broad.mit.edu	37	chr3	124149556	124149556	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaacgccagcctggtcaaTgccagctctttgtcggaagc	10	14	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:124149556T>C	uc003ehg.2	+	16	2884	c.2757T>C	c.(2755-2757)AAT>AAC	p.N919N	KALRN_uc010hrv.1_Silent_p.N919N|KALRN_uc003ehf.1_Silent_p.N919N|KALRN_uc011bjy.1_Silent_p.N919N|KALRN_uc003ehh.1_Silent_p.N265N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	919	Spectrin 4.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GCCTGGTCAATGCCAGCTCTT	0.567													C	124149556	T	C	124149556	2	2	8	1	0	0	0	0	0	0	0	1	7975	1461	51	3		3	KALRN	3	124149556	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	781512	124149556	73872874	374	7396											
KLF15	28999	broad.mit.edu	37	chr3	126070789	126070789	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtacatcttgctgcagccaGggaaagtacatttgtgcatt	10	8	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:126070789G>T	uc011bkk.1	-	2	1159	c.977C>A	c.(976-978)CCT>CAT	p.P326H		NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	326	C2H2-type 1.					nucleus	DNA binding|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(114;0.147)		GCTGCAGCCAGGGAAAGTACA	0.627													T	126070789	G	T	126070789	3	4	8	1	0	0	0	0	1	0	0	0	8343	1000	35	5	281	5	KLF15	3	126070789	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1921233	126070789	71951641	375	7397											
SEC61A1	29927	broad.mit.edu	37	chr3	127786377	127786377	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacccggtccatgcagttgtAtacatagtgttcatgctggg	12	9	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:127786377A>T	uc003ekb.2	+	10	1273	c.1089A>T	c.(1087-1089)GTA>GTT	p.V363V	RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Intron|SEC61A1_uc003ekc.2_Silent_p.V310V|SEC61A1_uc003ekd.2_Silent_p.V243V|SEC61A1_uc003ekg.2_Silent_p.V57V	NM_013336	NP_037468	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit	363	Helical; (Potential).				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			ovary(1)	1						ATGCAGTTGTATACATAGTGT	0.493													T	127786377	A	T	127786377	2	4	8	1	0	0	0	0	0	0	0	1	14000	436	16	5		5	SEC61A1	3	127786377	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1715588	127786377	70236053	376	7398											
MBD4	8930	broad.mit.edu	37	chr3	129152936	129152936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttgctggaaaaatacagGcttgttttccttctttctat	6	7	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:129152936G>A	uc003emh.1	-	4	1421	c.1245C>T	c.(1243-1245)AGC>AGT	p.S415S	MBD4_uc003emi.1_Silent_p.S415S|MBD4_uc003emj.1_Silent_p.S409S|MBD4_uc003emk.1_Silent_p.S97S|MBD4_uc011bkw.1_Silent_p.S415S	NM_003925	NP_003916	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	415					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			ovary(1)|lung(1)	2						AAAAATACAGGCTTGTTTTCC	0.348								BER_DNA_glycosylases					A	129152936	G	A	129152936	2	1	8	1	0	0	0	0	0	0	0	1	9346	1194	42	2		2	MBD4	3	129152936	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1366559	129152936	68869494	377	7399											
COL6A6	131873	broad.mit.edu	37	chr3	130380888	130380888	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttaagtacacccaatctgAgaagaaacaaagtcatattt	5	7	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:130380888A>G	uc010htl.2	+	34	6269	c.6238A>G	c.(6238-6240)AGA>GGA	p.R2080G	COL6A6_uc003eni.3_Missense_Mutation_p.R179G	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	2080	VWFA 9.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						ACCCAATCTGAGAAGAAACAA	0.408													G	130380888	A	G	130380888	3	3	8	1	0	0	0	0	1	0	0	0	3703	296	11	3	6372	3	COL6A6	3	130380888	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1227952	130380888	67641542	378	7400											
PIK3R4	30849	broad.mit.edu	37	chr3	130422673	130422673	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcatcagagactctaattcGattcacagcagatttatgct	6	9	4	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:130422673G>A	uc003enj.2	-	13	3573	c.2992C>T	c.(2992-2994)CGA>TGA	p.R998*		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	998	WD 1.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						ACTCTAATTCGATTCACAGCA	0.418													A	130422673	G	A	130422673	4	1	8	1	0	0	0	0	0	1	0	0	11921	1066	37	1	1116	1	PIK3R4	3	130422673	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	41785	130422673	67599757	379	7401											
CPNE4	131034	broad.mit.edu	37	chr3	131283121	131283121	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcagatactcattgggttGgtaagggtggatgtagtgca	14	4	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:131283121G>A	uc003eok.2	-	11	1435	c.1000C>T	c.(1000-1002)CAA>TAA	p.Q334*	CPNE4_uc011blq.1_Nonsense_Mutation_p.Q352*|CPNE4_uc003eol.2_Nonsense_Mutation_p.Q352*|CPNE4_uc003eom.2_Nonsense_Mutation_p.Q334*	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	334	VWFA.									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TCATTGGGTTGGTAAGGGTGG	0.453													A	131283121	G	A	131283121	4	1	8	1	0	0	0	0	0	1	0	0	3814	1357	47	4	697	4	CPNE4	3	131283121	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	860448	131283121	66739309	380	7402											
PPP2R3A	5523	broad.mit.edu	37	chr3	135721928	135721928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagacctctctaagagagCcacttgcgaagggtaaaaac	11	9	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:135721928C>T	uc003eqv.1	+	2	2153	c.1588C>T	c.(1588-1590)CCA>TCA	p.P530S	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	530					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						TCTAAGAGAGCCACTTGCGAA	0.388													T	135721928	C	T	135721928	3	4	8	1	0	0	0	0	1	0	0	0	12388	739	26	2	1590	2	PPP2R3A	3	135721928	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	4438807	135721928	62300502	381	7403											
MSL2	55167	broad.mit.edu	37	chr3	135870314	135870315	+	Frame_Shift_Del	DEL	TT	TT	-													ggcatgtaagaacacttggaTtttgagtagcacgcccacat							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:135870313_135870314ATT>A	uc003eqx.1	-	1	2142_2143	c.1409_1410AAT>T	c.(1408-1410)aatfs	p.N470fs	MSL2_uc011bmb.1_Frame_Shift_Del_p.N396fs|MSL2_uc021xel.1_Frame_Shift_Del_p.N396fs	NM_018133	NP_001138889	Q9HCI7	MSL2_HUMAN	Homo sapiens male-specific lethal 2 homolog (Drosophila) (MSL2), transcript variant 1, mRNA.	470					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GAACACTTGGATTTTGAGTAGC	0.455													-	135870315	TT	-	135870314	7	5	8	1	0	1	0	1	0	0	0	0	9878	1493	52	0	328	0	MSL2	3	135870314	Frame_Shift_Del	DEL	TT	TCGA-BR-4201-01A-01D-1126-08	148386	135870314	62152116	382	7404											
STAG1	10274	broad.mit.edu	37	chr3	136059352	136059352	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagatcaataaccatggtgTcctcaaattcttcattcata	4	11	5	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:136059352T>C	uc003era.1	-	32	3945	c.3653A>G	c.(3652-3654)GAC>GGC	p.D1218G	STAG1_uc003erb.1_Missense_Mutation_p.D1181G	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1218					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						AACCATGGTGTCCTCAAATTC	0.373													C	136059352	T	C	136059352	3	2	8	1	0	0	0	0	1	0	0	0	15241	1667	58	3	135	3	STAG1	3	136059352	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	189038	136059352	61963078	383	7405											
IL20RB	53833	broad.mit.edu	37	chr3	136710804	136710805	+	Frame_Shift_Ins	INS	-	-	G													tgtcaaaatggtgaggagtgINSggggtattccagtgcaccta							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:136710803_136710804T>TG	uc003eri.2	+	4	804_805	c.555_556T>TG	c.(553-558)agtgggfs	p.S185fs	IL20RB_uc003erj.2_Intron|IL20RB_uc010hud.2_Frame_Shift_Ins_p.S43fs	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	Homo sapiens interleukin 20 receptor beta (IL20RB), mRNA.	185	Fibronectin type-III 2.					integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGGTGAGGAGTGGGGGTATTCC	0.535													G	136710805	-	G	136710804	7	5	8	1	0	1	1	0	0	0	0	0	7669	1348	47	0	574	0	IL20RB	3	136710804	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	651452	136710804	61311626	384	7406											
SOX14	8403	broad.mit.edu	37	chr3	137484306	137484306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcccaggcatgaccaagaCtggcatagacccttattcgt	8	13	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:137484306C>T	uc003erm.1	+	1	728	c.680C>T	c.(679-681)ACT>ATT	p.T227I		NM_004189	NP_004180	O95416	SOX14_HUMAN	SRY-box 14	227					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding				0						ATGACCAAGACTGGCATAGAC	0.642													T	137484306	C	T	137484306	3	4	8	1	0	0	0	0	1	0	0	0	14945	565	20	4	682	4	SOX14	3	137484306	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	773502	137484306	60538124	385	7407											
COPB2	9276	broad.mit.edu	37	chr3	139080026	139080026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatttccagaggcagtggCcaaaagcagcaggcccccat	11	13	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:139080026C>T	uc003etf.3	-	17	2237	c.2107G>A	c.(2107-2109)GCC>ACC	p.A703T	COPB2_uc011bmv.1_Missense_Mutation_p.A674T|COPB2_uc010hui.2_Missense_Mutation_p.A674T	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	703					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2						GAGGCAGTGGCCAAAAGCAGC	0.483													T	139080026	C	T	139080026	3	4	8	1	0	0	0	0	1	0	0	0	3729	739	26	2	637	2	COPB2	3	139080026	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1595720	139080026	58942404	386	7408											
XRN1	54464	broad.mit.edu	37	chr3	142030643	142030644	+	Frame_Shift_Ins	INS	-	-	T													ttctttttgtttgcaaccctINSttttttagtaacctgttagg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:142030642_142030643C>CT	uc003eus.3	-	41	4898_4899	c.4831_4832G>AG	c.(4831-4833)aggfs	p.R1611fs	XRN1_uc010huu.3_Frame_Shift_Ins_p.R1065fs|XRN1_uc003eut.3_Frame_Shift_Ins_p.R1598fs|XRN1_uc003euu.3_Frame_Shift_Ins_p.R1599fs	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	1611					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GTTTGCAACCCTTTTTTTAGTA	0.361													T	142030644	-	T	142030643	7	5	8	1	0	1	1	0	0	0	0	0	17456	1608	56	0	293	0	XRN1	3	142030643	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	2950617	142030643	55991787	387	7409											
ATR	545	broad.mit.edu	37	chr3	142176461	142176461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attacctcattaaaggctctCgctgatcacgcatcagcctc	6	14	4	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:142176461C>T	uc003eux.3	-	45	7762	c.7640G>A	c.(7639-7641)CGA>CAA	p.R2547Q	ATR_uc003euy.1_Missense_Mutation_p.R433Q	NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	2547	PI3K/PI4K.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						TAAAGGCTCTCGCTGATCACG	0.378								Other_conserved_DNA_damage_response_genes					T	142176461	C	T	142176461	3	4	8	1	0	0	0	0	1	0	0	0	1204	884	31	1	306	1	ATR	3	142176461	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	145818	142176461	55845969	388	7410											
ATR	545	broad.mit.edu	37	chr3	142261555	142261555	+	Frame_Shift_Del	DEL	A	A	-													gagctcagtaactgcatgttAaaaaaagccaaaatgcccaa							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:142261554_142261554TA>T	uc003eux.4	-	16	3525	c.3403_3403TA>A	c.(3403-3405)aacfs	p.N1135fs		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1135					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AACTGCATGTTAAAAAAAGCC	0.313								Other conserved DNA damage response genes					-	142261555	A	-	142261555	7	5	8	1	0	1	0	1	0	0	0	0	1204	359	13	0	4656	0	ATR	3	142261555	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	85094	142261555	55760875	389	7411											
TRPC1	7220	broad.mit.edu	37	chr3	142521156	142521156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactgtgtaggcatcttctGtgaacagcaaagcaatgata	11	7	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:142521156G>A	uc003evc.2	+	10	1863	c.1727G>A	c.(1726-1728)TGT>TAT	p.C576Y	TRPC1_uc003evb.2_Missense_Mutation_p.C542Y|TRPC1_uc011bni.1_Missense_Mutation_p.C95Y	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	576	Cytoplasmic (Potential).				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						GGCATCTTCTGTGAACAGCAA	0.308													A	142521156	G	A	142521156	3	1	8	1	0	0	0	0	1	0	0	0	16575	1377	48	4	1659	4	TRPC1	3	142521156	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	259601	142521156	55501274	390	7412											
PAQR9	344838	broad.mit.edu	37	chr3	142681261	142681261	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctggtggctgtggccgatAatgtcgaaaagacccggctg	15	9	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:142681261A>G	uc003evg.2	-	1	918	c.918T>C	c.(916-918)ATT>ATC	p.I306I	PAQR9_uc003evf.1_RNA	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	306	Helical; (Potential).					integral to membrane	receptor activity				0						TGTGGCCGATAATGTCGAAAA	0.587													G	142681261	A	G	142681261	2	3	8	1	0	0	0	0	0	0	0	1	11442	358	13	3		3	PAQR9	3	142681261	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	160105	142681261	55341169	391	7413											
IGSF10	285313	broad.mit.edu	37	chr3	151164676	151164676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgtatctatgccgtcgCagaactggagttctatatgg	11	8	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:151164676C>T	uc011bod.1	-	4	3093	c.3093G>A	c.(3091-3093)CTG>CTA	p.L1031L		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1031					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TATGCCGTCGCAGAACTGGAG	0.473													T	151164676	C	T	151164676	2	4	8	1	0	0	0	0	0	0	0	1	7597	697	25	2		2	IGSF10	3	151164676	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	8483415	151164676	46857754	392	7414											
SUCNR1	56670	broad.mit.edu	37	chr3	151598580	151598580	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccatgctgataaggagttaTgccaatggaaactggatata	10	7	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:151598580T>A	uc003ezf.1	+	3	348	c.249T>A	c.(247-249)TAT>TAA	p.Y83*		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	83	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TAAGGAGTTATGCCAATGGAA	0.423													A	151598580	T	A	151598580	4	1	8	1	0	0	0	0	0	1	0	0	15365	1471	51	5	255	5	SUCNR1	3	151598580	Nonsense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	433904	151598580	46423850	393	7415											
P2RY1	5028	broad.mit.edu	37	chr3	152553661	152553661	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctgggggaacagcacggtCgcctccactgccgccgtctc	12	17	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:152553661C>T	uc003ezq.2	+	1	926	c.90C>T	c.(88-90)GTC>GTT	p.V30V		NM_002563	NP_002554	P47900	P2RY1_HUMAN	purinergic receptor P2Y1	30	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			ACAGCACGGTCGCCTCCACTG	0.617													T	152553661	C	T	152553661	2	4	8	1	0	0	0	0	0	0	0	1	11346	871	31	1		1	P2RY1	3	152553661	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	955081	152553661	45468769	394	7416											
MYNN	55892	broad.mit.edu	37	chr3	169497257	169497257	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttgagaaggcacatgagaaTacataaaggagtcaaacctt	9	6	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:169497257T>A	uc003fft.2	+	3	1397	c.968T>A	c.(967-969)ATA>AAA	p.I323K	MYNN_uc011bpm.1_Missense_Mutation_p.I209K|MYNN_uc003ffu.2_Missense_Mutation_p.I323K|MYNN_uc003ffv.2_Missense_Mutation_p.I50K|MYNN_uc010hwo.2_Missense_Mutation_p.I323K|MYNN_uc003ffw.1_RNA	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	myoneurin	323	C2H2-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CACATGAGAATACATAAAGGA	0.453													A	169497257	T	A	169497257	3	1	8	1	0	0	0	0	1	0	0	0	10061	1406	49	5	974	5	MYNN	3	169497257	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	16943596	169497257	28525173	395	7417											
ABCC5	10057	broad.mit.edu	37	chr3	183677573	183677577	+	Frame_Shift_Del	DEL	CTTGT	CTTGT	-													actgatcctgttttaggaccCttgtcttgtgacttcttctg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:183677572_183677576CCTTGT>C	uc003fmg.3	-	16	2592_2596	c.2427_2431ACAAGG>G	c.(2425-2433)gacaagggtfs	p.D809fs	ABCC5_uc011bqt.2_Frame_Shift_Del_p.D337fs|ABCC5_uc010hxl.3_Frame_Shift_Del_p.D809fs	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	809						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTTTTAGGACCCTTGTCTTGTGACT	0.337													-	183677577	CTTGT	-	183677573	7	5	8	1	0	1	0	1	0	0	0	0	56	680	24	0	1939	0	ABCC5	3	183677573	Frame_Shift_Del	DEL	CTTGT	TCGA-BR-4201-01A-01D-1126-08	14180316	183677573	14344857	396	7418											
ABCC5	10057	broad.mit.edu	37	chr3	183682976	183682976	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcggaaggcctgtacctcCgtcaggtcgctgctgggaag	17	11	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:183682976C>T	uc003fmg.2	-	14	2193	c.2028G>A	c.(2026-2028)ACG>ACA	p.T676T	ABCC5_uc011bqt.1_Silent_p.T204T|ABCC5_uc010hxl.2_Silent_p.T676T	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	676	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCTGTACCTCCGTCAGGTCGC	0.592													T	183682976	C	T	183682976	2	4	8	1	0	0	0	0	0	0	0	1	56	639	23	1		1	ABCC5	3	183682976	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	5403	183682976	14339454	397	7419											
EIF4G1	1981	broad.mit.edu	37	chr3	184040373	184040373	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaaatcagcctcctgcAggcagcaatccaggcccaga	11	13	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:184040373A>G	uc003fnp.2	+	12	1848	c.1650A>G	c.(1648-1650)GCA>GCG	p.A550A	EIF4G1_uc003fno.1_Silent_p.A491A|EIF4G1_uc010hxw.1_Silent_p.A386A|EIF4G1_uc003fnt.2_Silent_p.A261A|EIF4G1_uc003fnq.2_Silent_p.A463A|EIF4G1_uc003fnr.2_Silent_p.A386A|EIF4G1_uc010hxx.2_Silent_p.A557A|EIF4G1_uc003fns.2_Silent_p.A510A|EIF4G1_uc010hxy.2_Silent_p.A557A|EIF4G1_uc003fnv.3_Silent_p.A550A|EIF4G1_uc003fnu.3_Silent_p.A550A|EIF4G1_uc003fnw.2_Silent_p.A557A|EIF4G1_uc003fnx.2_Silent_p.A354A|EIF4G1_uc003fny.3_Silent_p.A354A	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	550					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCCTCCTGCAGGCAGCAATC	0.532													G	184040373	A	G	184040373	2	3	8	1	0	0	0	0	0	0	0	1	5036	175	7	3		3	EIF4G1	3	184040373	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	357397	184040373	13982057	398	7420											
EPHB3	2049	broad.mit.edu	37	chr3	184299146	184299146	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcggtacaaggagagcttCgtcagtgcggggtttgcatc	17	8	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:184299146C>T	uc003foz.2	+	15	3275	c.2838C>T	c.(2836-2838)TTC>TTT	p.F946F		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	946	Cytoplasmic (Potential).|SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGGAGAGCTTCGTCAGTGCGG	0.592													T	184299146	C	T	184299146	2	4	8	1	0	0	0	0	0	0	0	1	5176	883	31	1		1	EPHB3	3	184299146	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	258773	184299146	13723284	399	7421											
EIF4A2	1974	broad.mit.edu	37	chr3	186504931	186504931	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaggaatggaagttggatAcactttgtgacttgtacgag	12	5	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:186504931A>G	uc003fqs.2	+	8	826	c.787A>G	c.(787-789)ACA>GCA	p.T263A	EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.T264A|EIF4A2_uc003fqv.2_Missense_Mutation_p.T168A|EIF4A2_uc003fqw.2_Missense_Mutation_p.T168A|EIF4A2_uc011bsb.1_Missense_Mutation_p.T136A|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	263	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			ovary(2)|breast(2)	4	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GAAGTTGGATACACTTTGTGA	0.363			T	BCL6	NHL								G	186504931	A	G	186504931	3	3	8	1	0	0	0	0	1	0	0	0	5025	391	14	3	817	3	EIF4A2	3	186504931	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	2205785	186504931	11517499	400	7422											
MUC4	4585	broad.mit.edu	37	chr3	195506181	195506181	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaggggtggcgtgaccggtGgatgctgaggaagcatcggt	20	6	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:195506181G>T	uc011bto.1	-	3	12346	c.11886C>A	c.(11884-11886)TCC>TCA	p.S3962S	MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_5'Flank|MUC4_uc011btg.1_5'Flank|MUC4_uc011bth.1_5'Flank|MUC4_uc011bti.1_5'Flank|MUC4_uc011btj.1_5'Flank|MUC4_uc011btk.1_5'Flank|MUC4_uc011btl.1_5'Flank|MUC4_uc011btm.1_5'Flank|MUC4_uc011btn.1_5'Flank|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	856	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CGTGACCGGTGGATGCTGAGG	0.582													T	195506181	G	T	195506181	2	4	8	1	0	0	0	0	0	0	0	1	9978	1335	47	5		5	MUC4	3	195506181	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	9001250	195506181	2516249	401	7423											
PIGX	54965	broad.mit.edu	37	chr3	196454970	196454970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggagaagcctcgattgtGgtcaataacccagatttgtt	11	7	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:196454970G>A	uc010iaj.2	+	4	653	c.372G>A	c.(370-372)GTG>GTA	p.V124V	PIGX_uc003fwx.3_Silent_p.V124V|PIGX_uc011btx.1_RNA	NM_017861	NP_060331	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	165	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane					0	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		CCTCGATTGTGGTCAATAACC	0.468													A	196454970	G	A	196454970	2	1	8	1	0	0	0	0	0	0	0	1	11903	1335	47	4		4	PIGX	3	196454970	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	948789	196454970	1567460	402	7424											
PAK2	5062	broad.mit.edu	37	chr3	196509566	196509566	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctccagcacctcctgtgCgaatgagcagcaccatcttt	8	15	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:196509566C>T	uc003fwy.3	+	2	371	c.49C>T	c.(49-51)CGA>TGA	p.R17*		NM_002577	NP_002568	Q13177	PAK2_HUMAN	p21-activated kinase 2	17					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			ovary(1)|lung(1)	2	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		ACCTCCTGTGCGAATGAGCAG	0.438													T	196509566	C	T	196509566	4	4	8	1	0	0	0	0	0	1	0	0	11401	760	27	1	51	1	PAK2	3	196509566	Nonsense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	54596	196509566	1512864	403	7425											
MFI2	4241	broad.mit.edu	37	chr3	196751266	196751266	+	Frame_Shift_Del	DEL	G	G	-													ccactgtgcgattgatgcccGtgtggcaggacttcacgcct							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:196751265_196751265CG>C	uc003fxk.4	-	3	510	c.396_396CG>G	c.(394-396)acgfs	p.T132fs	MFI2_uc003fxl.4_Frame_Shift_Del_p.T132fs|MFI2_uc011bua.2_Frame_Shift_Del_p.T132fs	NM_005929	NP_005920	P08582	TRFM_HUMAN	Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.	132	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GATTGATGCCCGTGTGGCAGG	0.617													-	196751266	G	-	196751266	7	5	8	1	0	1	0	1	0	0	0	0	9522	1145	40	0	2074	0	MFI2	3	196751266	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	241700	196751266	1271164	404	7426											
GAK	2580	broad.mit.edu	37	chr4	860918	860918	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctggagggggccttgcaggCctgcgggggtacagctggcc	20	11	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:860918C>G	uc003gbm.3	-	21	2897	c.2698G>C	c.(2698-2700)GCC>CCC	p.A900P	GAK_uc003gbn.3_Missense_Mutation_p.A821P|GAK_uc010ibk.1_Missense_Mutation_p.A794P|GAK_uc010ibi.2_Missense_Mutation_p.A81P|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.A764P	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	900					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		GCCTTGCAGGCCTGCGGGGGT	0.716													G	860918	C	G	860918	3	3	8	1	0	0	0	0	1	0	0	0	6195	739	26	5	1269	5	GAK	4	860918	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08		860918	190293358	405	7427											
GAK	2580	broad.mit.edu	37	chr4	861151	861151	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacctcactctcgtctctgTcctccatcagggcagactcg	7	17	4	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:861151T>C	uc003gbm.3	-	21	2664	c.2465A>G	c.(2464-2466)GAC>GGC	p.D822G	GAK_uc003gbn.3_Missense_Mutation_p.D743G|GAK_uc010ibk.1_Missense_Mutation_p.D716G|GAK_uc010ibi.2_Missense_Mutation_p.D3G|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.D686G	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	822					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		CTCGTCTCTGTCCTCCATCAG	0.602													C	861151	T	C	861151	3	2	8	1	0	0	0	0	1	0	0	0	6195	1667	58	3	1502	3	GAK	4	861151	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	233	861151	190293125	406	7428											
FAM193A	8603	broad.mit.edu	37	chr4	2673877	2673877	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctccaaacacttgtgaatgTcatgtttgtaagcaggaagc	10	8	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:2673877T>A	uc010icl.2	+	11	1587	c.1236T>A	c.(1234-1236)TGT>TGA	p.C412*	FAM193A_uc010ick.2_Nonsense_Mutation_p.C612*|FAM193A_uc003gfd.2_Nonsense_Mutation_p.C412*|FAM193A_uc011bvm.1_Nonsense_Mutation_p.C434*|FAM193A_uc011bvn.1_Nonsense_Mutation_p.C412*|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Nonsense_Mutation_p.C266*	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	412										ovary(3)	3						CTTGTGAATGTCATGTTTGTA	0.433													A	2673877	T	A	2673877	4	1	8	1	0	0	0	0	0	1	0	0	5524	1673	58	5	1270	5	FAM193A	4	2673877	Nonsense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	1812726	2673877	188480399	407	7429											
ADD1	118	broad.mit.edu	37	chr4	2906508	2906508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggctacagaactggctaCccttatcgataccctgctct	8	13	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:2906508C>T	uc003gfr.2	+	10	1367	c.1179C>T	c.(1177-1179)TAC>TAT	p.Y393Y	ADD1_uc003gfn.2_Intron|ADD1_uc003gfo.2_Silent_p.Y393Y|ADD1_uc003gfp.2_Silent_p.Y393Y|ADD1_uc003gfq.2_Silent_p.Y393Y|ADD1_uc003gfs.2_Silent_p.Y393Y|ADD1_uc003gft.3_Silent_p.Y393Y	NM_001119	NP_001110	P35611	ADDA_HUMAN	adducin 1 (alpha) isoform a	393					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAACTGGCTACCCTTATCGAT	0.398													T	2906508	C	T	2906508	2	4	8	1	0	0	0	0	0	0	0	1	304	518	18	4		4	ADD1	4	2906508	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	232631	2906508	188247768	408	7430											
ADD1	118	broad.mit.edu	37	chr4	2916624	2916624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacagggagagctggtgaCggcctccaaggccatcattg	13	12	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:2916624C>T	uc003gfr.2	+	13	1807	c.1619C>T	c.(1618-1620)ACG>ATG	p.T540M	ADD1_uc003gfn.2_Intron|ADD1_uc003gfo.2_Missense_Mutation_p.T571M|ADD1_uc003gfp.2_Missense_Mutation_p.T540M|ADD1_uc003gfq.2_Missense_Mutation_p.T571M|ADD1_uc003gfs.2_Missense_Mutation_p.T571M	NM_001119	NP_001110	P35611	ADDA_HUMAN	adducin 1 (alpha) isoform a	540					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGCTGGTGACGGCCTCCAAG	0.642													T	2916624	C	T	2916624	3	4	8	1	0	0	0	0	1	0	0	0	304	536	19	1	1758	1	ADD1	4	2916624	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	10116	2916624	188237652	409	7431											
LYAR	55646	broad.mit.edu	37	chr4	4283520	4283520	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagacgttacctgaatccacGcctgctgtttgatgtcgcct	10	12	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:4283520G>T	uc011bvy.1	-	4	370	c.227C>A	c.(226-228)GCG>GAG	p.A76E	LYAR_uc011bvx.1_5'Flank|LYAR_uc003ght.2_Missense_Mutation_p.A76E	NM_001145725	NP_001139197	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive homolog	76						nucleolus	metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTGAATCCACGCCTGCTGTTT	0.443													T	4283520	G	T	4283520	3	4	8	1	0	0	0	0	1	0	0	0	9103	1087	38	5	940	5	LYAR	4	4283520	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1366896	4283520	186870756	410	7432											
STK32B	55351	broad.mit.edu	37	chr4	5468447	5468447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaaagggaggttgaactgCgatcccacatttgagcttga	12	7	0	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:5468447C>T	uc003gih.1	+	10	991	c.927C>T	c.(925-927)TGC>TGT	p.C309C	STK32B_uc010ida.1_Silent_p.C262C	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	309							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						GGTTGAACTGCGATCCCACAT	0.418													T	5468447	C	T	5468447	2	4	8	1	0	0	0	0	0	0	0	1	15297	776	27	1		1	STK32B	4	5468447	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1184927	5468447	185685829	411	7433											
EVC2	132884	broad.mit.edu	37	chr4	5624508	5624508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggctgagttctgcaggcGccgcagctcgtcggtggcct	15	13	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:5624508G>A	uc003gij.2	-	14	2311	c.2257C>T	c.(2257-2259)CGC>TGC	p.R753C	EVC2_uc011bwb.1_Missense_Mutation_p.R193C|EVC2_uc003gik.2_Missense_Mutation_p.R673C	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	753	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5						TTCTGCAGGCGCCGCAGCTCG	0.647													A	5624508	G	A	5624508	3	1	8	1	0	0	0	0	1	0	0	0	5286	1087	38	1	1705	1	EVC2	4	5624508	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	156061	5624508	185529768	412	7434											
EVC	2121	broad.mit.edu	37	chr4	5754686	5754686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacggcctggagctgctgGctggtgaggggaagctgtcc	17	12	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:5754686G>A	uc003gil.1	+	9	1406	c.1222G>A	c.(1222-1224)GCT>ACT	p.A408T	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	408					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				GGAGCTGCTGGCTGGTGAGGG	0.652													A	5754686	G	A	5754686	3	1	8	1	0	0	0	0	1	0	0	0	5285	1203	42	2	1256	2	EVC	4	5754686	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	130178	5754686	185399590	413	7435											
PPP2R2C	5522	broad.mit.edu	37	chr4	6377649	6377649	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtaatcttccataatttgAtagttttatctttaaaaaca	4	6	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:6377649A>G	uc003gjc.2	-	4	714	c.344T>C	c.(343-345)ATC>ACC	p.I115T	PPP2R2C_uc003gjb.2_Missense_Mutation_p.I98T|PPP2R2C_uc011bwd.1_Missense_Mutation_p.I108T|PPP2R2C_uc011bwe.1_Missense_Mutation_p.I108T|PPP2R2C_uc003gja.2_Missense_Mutation_p.I115T|PPP2R2C_uc003gjd.1_Missense_Mutation_p.I203T	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	115	WD 2.				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						CCATAATTTGATAGTTTTATC	0.413													G	6377649	A	G	6377649	3	3	8	1	0	0	0	0	1	0	0	0	12386	333	12	3	1023	3	PPP2R2C	4	6377649	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	622963	6377649	184776627	414	7436											
KIAA0232	9778	broad.mit.edu	37	chr4	6865064	6865064	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaacagttttgctcctggGcacaggcagttatggaaacc	12	9	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:6865064G>A	uc003gjr.3	+	7	3418	c.2955G>A	c.(2953-2955)GGG>GGA	p.G985G	KIAA0232_uc003gjq.3_Silent_p.G985G	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	985							ATP binding			ovary(2)	2						TTGCTCCTGGGCACAGGCAGT	0.438													A	6865064	G	A	6865064	2	1	8	1	0	0	0	0	0	0	0	1	8163	1190	42	2		2	KIAA0232	4	6865064	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	487415	6865064	184289212	415	7437											
BOD1L	259282	broad.mit.edu	37	chr4	13597501	13597501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacctattccacttggctttCccccacacagactttctggt	5	16	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:13597501C>T	uc003gmz.1	-	12	8204	c.8087G>A	c.(8086-8088)GGA>GAA	p.G2696E		NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2696							DNA binding			ovary(5)|breast(1)	6						ACTTGGCTTTCCCCCACACAG	0.378													T	13597501	C	T	13597501	3	4	8	1	0	0	0	0	1	0	0	0	1483	855	30	4	1128	4	BOD1L	4	13597501	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	6732437	13597501	177556775	416	7438											
FGFBP2	83888	broad.mit.edu	37	chr4	15964150	15964152	+	In_Frame_Del	DEL	CTT	CTT	-													ttccaacaatgttcccaggcCttcttctttgcttcctcatt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:15964149_15964151CCTT>C	uc003gon.3	-	0	709_711	c.602_604AAGG>G	c.(601-606)aaggcc>aGcc	p.201_202KA>S	FGFBP2_uc021xmm.1_In_Frame_Del_p.201_202KA>S	NM_031950	NP_114156	Q9BYJ0	FGFP2_HUMAN	Homo sapiens fibroblast growth factor binding protein 2 (FGFBP2), mRNA.	201						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						TGTTCCCAGGCCTTCTTCTTTGC	0.562													-	15964152	CTT	-	15964150	7	5	8	1	0	1	0	1	0	0	0	0	5861	680	24	0	72	0	FGFBP2	4	15964150	In_Frame_Del	DEL	CTT	TCGA-BR-4201-01A-01D-1126-08	2366649	15964150	175190126	417	7439											
PROM1	8842	broad.mit.edu	37	chr4	15982050	15982050	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccacatacttactcatcGtacacgtcctccgaatccat	4	16	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:15982050G>A	uc003goo.2	-	23	2696	c.2484C>T	c.(2482-2484)TAC>TAT	p.Y828Y	PROM1_uc003gor.2_Silent_p.Y828Y|PROM1_uc003gos.2_Silent_p.Y819Y|PROM1_uc003got.2_Silent_p.Y828Y|PROM1_uc003gou.2_Silent_p.Y819Y|PROM1_uc003gop.2_Silent_p.Y819Y|PROM1_uc003goq.3_Silent_p.Y819Y	NM_006017	NP_006008	O43490	PROM1_HUMAN	prominin 1 isoform 1	828	Cytoplasmic (Potential).				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7						CTTACTCATCGTACACGTCCT	0.433													A	15982050	G	A	15982050	2	1	8	1	0	0	0	0	0	0	0	1	12555	1140	40	1		1	PROM1	4	15982050	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	17900	15982050	175172226	418	7440											
STIM2	57620	broad.mit.edu	37	chr4	27024459	27024459	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccggtgcctaaacctcgCcacacatcatgttcctcagc	6	17	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:27024459C>T	uc003gsh.3	+	13	2583	c.2367C>T	c.(2365-2367)CGC>CGT	p.R789R	STIM2_uc003gsg.3_Silent_p.R781R|STIM2_uc010iex.2_3'UTR|STIM2_uc010iey.2_3'UTR	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	694	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			central_nervous_system(1)|skin(1)	2		Breast(46;0.0503)				CTAAACCTCGCCACACATCAT	0.483													T	27024459	C	T	27024459	2	4	8	1	0	0	0	0	0	0	0	1	15283	726	26	2		2	STIM2	4	27024459	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	11042409	27024459	164129817	419	7441											
PCDH7	5099	broad.mit.edu	37	chr4	30723234	30723234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgaccggatcgggtgagGtgactttcagcctggagtcc	15	10	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:30723234G>A	uc003gsk.1	+	1	1198	c.190G>A	c.(190-192)GTG>ATG	p.V64M	PCDH7_uc011bxw.1_Missense_Mutation_p.V64M|PCDH7_uc011bxx.1_Missense_Mutation_p.V64M	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	64	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						ATCGGGTGAGGTGACTTTCAG	0.662													A	30723234	G	A	30723234	3	1	8	1	0	0	0	0	1	0	0	0	11516	1261	44	4	192	4	PCDH7	4	30723234	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3698775	30723234	160431042	420	7442											
PCDH7	5099	broad.mit.edu	37	chr4	30724012	30724012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggctgagaacagcgcccCggggacccccatcctgcaac	11	17	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:30724012C>T	uc003gsk.1	+	1	1976	c.968C>T	c.(967-969)CCG>CTG	p.P323L	PCDH7_uc011bxw.1_Missense_Mutation_p.P276L|PCDH7_uc011bxx.1_Missense_Mutation_p.P323L	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	323	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						AACAGCGCCCCGGGGACCCCC	0.662													T	30724012	C	T	30724012	3	4	8	1	0	0	0	0	1	0	0	0	11516	652	23	1	970	1	PCDH7	4	30724012	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	778	30724012	160430264	421	7443											
APBB2	323	broad.mit.edu	37	chr4	41016202	41016202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggatccgagaggcccatgGccgcctggatgttagttagt	14	10	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:41016202G>A	uc003gvl.2	-	6	863	c.233C>T	c.(232-234)GCC>GTC	p.A78V	APBB2_uc003gvm.2_Missense_Mutation_p.A78V|APBB2_uc003gvn.2_Missense_Mutation_p.A78V|APBB2_uc011byt.1_Missense_Mutation_p.A61V	NM_173075	NP_775098	Q92870	APBB2_HUMAN	amyloid beta A4 precursor protein-binding,	78					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			ovary(2)|large_intestine(1)	3						GAGGCCCATGGCCGCCTGGAT	0.502													A	41016202	G	A	41016202	3	1	8	1	0	0	0	0	1	0	0	0	761	1203	42	2	2098	2	APBB2	4	41016202	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	10292190	41016202	150138074	422	7444											
GABRA4	2557	broad.mit.edu	37	chr4	46976326	46976326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaagctggaagactccttcGgaacttcaactgatttctca	7	11	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:46976326G>A	uc003gxg.2	-	6	783	c.644C>T	c.(643-645)CCG>CTG	p.P215L		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	215	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGACTCCTTCGGAACTTCAAC	0.393													A	46976326	G	A	46976326	3	1	8	1	0	0	0	0	1	0	0	0	6163	1116	39	1	1036	1	GABRA4	4	46976326	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	5960124	46976326	144177950	423	7445											
SCFD2	152579	broad.mit.edu	37	chr4	54231634	54231634	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagcaacaggggcaagcaAtaacgggacatggaacacct	14	9	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:54231634A>C	uc003gzu.2	-	1	609	c.475T>G	c.(475-477)TTG>GTG	p.L159V	SCFD2_uc010igm.2_Missense_Mutation_p.L159V	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	159					protein transport|vesicle docking involved in exocytosis					ovary(2)|pancreas(1)	3			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGGGCAAGCAATAACGGGACA	0.572													C	54231634	A	C	54231634	3	2	8	1	0	0	0	0	1	0	0	0	13890	98	4	5	1615	5	SCFD2	4	54231634	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	7255308	54231634	136922642	424	7446											
CENPC1	1060	broad.mit.edu	37	chr4	68380266	68380266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgttgtttcagagaccctgCctttcttggtattgtaatcc	9	10	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:68380266C>T	uc003hdd.1	-	8	1153	c.970G>A	c.(970-972)GCA>ACA	p.A324T	CENPC1_uc010ihj.1_RNA|CENPC1_uc010ihk.1_RNA|CENPC1_uc010ihm.1_Missense_Mutation_p.A324T	NM_001812	NP_001803	Q03188	CENPC_HUMAN	centromere protein C 1	324					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			urinary_tract(1)|lung(1)	2						AGAGACCCTGCCTTTCTTGGT	0.413													T	68380266	C	T	68380266	3	4	8	1	0	0	0	0	1	0	0	0	3229	739	26	2	1909	2	CENPC1	4	68380266	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	14148632	68380266	122774010	425	7447											
CSN3	1448	broad.mit.edu	37	chr4	71114881	71114881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatattatgcaaacccagCtgtagttaggccacatgccc	7	13	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:71114881C>T	uc003hfe.3	+	4	312	c.254C>T	c.(253-255)GCT>GTT	p.A85V		NM_005212	NP_005203	P07498	CASK_HUMAN	casein kappa precursor	85						extracellular region	protein binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						GCAAACCCAGCTGTAGTTAGG	0.448													T	71114881	C	T	71114881	3	4	8	1	0	0	0	0	1	0	0	0	3949	797	28	2	264	2	CSN3	4	71114881	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2734615	71114881	120039395	426	7448											
PPEF2	5470	broad.mit.edu	37	chr4	76787346	76787346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaccacaccgttacctcgCgactcagttgttccttggcc	7	15	1	0	rs138384094	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:76787346C>T	uc003hix.2	-	15	2273	c.1916G>A	c.(1915-1917)CGC>CAC	p.R639H	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_3'UTR	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	639					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CGTTACCTCGCGACTCAGTTG	0.478													T	76787346	C	T	76787346	3	4	8	1	0	0	0	0	1	0	0	0	12308	768	27	1	357	1	PPEF2	4	76787346	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	5672465	76787346	114366930	427	7449											
FRAS1	80144	broad.mit.edu	37	chr4	79437097	79437097	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgaagagctgcgtgtggaCctttgatgcttattatgaca	11	8	0	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:79437097C>A	uc003hlb.2	+	66	10759	c.10319C>A	c.(10318-10320)ACC>AAC	p.T3440N		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3435	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TGCGTGTGGACCTTTGATGCT	0.572													A	79437097	C	A	79437097	3	1	8	1	0	0	0	0	1	0	0	0	6042	507	18	5	10656	5	FRAS1	4	79437097	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2649751	79437097	111717179	428	7450											
ARHGAP24	83478	broad.mit.edu	37	chr4	86898809	86898809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttggtcctaatatcctgcGccccaaagtggaagatcctt	8	12	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:86898809G>A	uc003hpk.2	+	8	1342	c.893G>A	c.(892-894)CGC>CAC	p.R298H	ARHGAP24_uc003hpl.2_Missense_Mutation_p.R203H|ARHGAP24_uc010ikf.2_Missense_Mutation_p.R213H|ARHGAP24_uc003hpm.2_Missense_Mutation_p.R205H	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	298	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AATATCCTGCGCCCCAAAGTG	0.403													A	86898809	G	A	86898809	3	1	8	1	0	0	0	0	1	0	0	0	873	1087	38	1	1035	1	ARHGAP24	4	86898809	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	7461712	86898809	104255467	429	7451											
SLC10A6	345274	broad.mit.edu	37	chr4	87769943	87769944	+	Frame_Shift_Ins	INS	-	-	C													gaaaatgttagagatggtgcINScccccgggcagcagcccatg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:87769942_87769943G>GC	uc003hqd.2	-	0	474_475	c.326_327C>GC	c.(325-327)ggcfs	p.G109fs		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	109						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TAGAGATGGTGCCCCCCGGGCA	0.505													C	87769944	-	C	87769943	7	5	8	1	0	1	1	0	0	0	0	0	14378	739	26	0	831	0	SLC10A6	4	87769943	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	871134	87769943	103384333	430	7452											
SPP1	6696	broad.mit.edu	37	chr4	88903760	88903760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccttctgattgggacagCcgtgggaaggacagttatga	15	8	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:88903760C>T	uc003hra.2	+	7	822	c.657C>T	c.(655-657)AGC>AGT	p.S219S	SPP1_uc003hrb.2_Silent_p.S192S|SPP1_uc003hrc.2_Silent_p.S205S|SPP1_uc011cde.1_Silent_p.S232S|SPP1_uc003hrd.2_Silent_p.S178S	NM_001040058	NP_001035147	P10451	OSTP_HUMAN	secreted phosphoprotein 1 isoform a	219					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			ovary(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		ATTGGGACAGCCGTGGGAAGG	0.527													T	88903760	C	T	88903760	2	4	8	1	0	0	0	0	0	0	0	1	15085	738	26	2		2	SPP1	4	88903760	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1133817	88903760	102250516	431	7453											
HERC5	51191	broad.mit.edu	37	chr4	89380514	89380515	+	Frame_Shift_Ins	INS	-	-	A													tagaatgcattaaattaggaINSaaaaacatgaagatacattc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:89380513_89380514G>GA	uc003hrt.3	+	1	434_435	c.281_282G>GA	c.(280-282)ggafs	p.G94fs		NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	Homo sapiens hect domain and RLD 5 (HERC5), mRNA.	94					ISG15-protein conjugation|innate immune response|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		ATTAAATTAGGAAAAAACATGA	0.351													A	89380515	-	A	89380514	7	5	8	1	0	1	1	0	0	0	0	0	7061	233	9	0	288	0	HERC5	4	89380514	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	476754	89380514	101773762	432	7454											
RAP1GDS1	5910	broad.mit.edu	37	chr4	99313170	99313170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaattactgggcatccaCtgccaaaatgcagctcttac	8	11	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:99313170C>T	uc003htx.3	+	6	766	c.576C>T	c.(574-576)CAC>CAT	p.H192H	RAP1GDS1_uc003htu.2_Silent_p.H192H|RAP1GDS1_uc003htw.3_Silent_p.H193H|RAP1GDS1_uc003htv.3_Silent_p.H193H|RAP1GDS1_uc003htz.3_Silent_p.H143H|RAP1GDS1_uc003hty.3_Silent_p.H144H|RAP1GDS1_uc003hua.3_Intron	NM_001100427	NP_001093897	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1 isoform	192	ARM 2.						binding|GTPase activator activity			ovary(1)|lung(1)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TGGGCATCCACTGCCAAAATG	0.343			T	NUP98	T-ALL								T	99313170	C	T	99313170	2	4	8	1	0	0	0	0	0	0	0	1	13039	564	20	4		4	RAP1GDS1	4	99313170	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	9932656	99313170	91841106	433	7455											
ADH1A	124	broad.mit.edu	37	chr4	100205876	100205876	+	Frame_Shift_Del	DEL	T	T	-													gagcatcagaaacctactcgTttttcaagcagtagttgctc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:100205875_100205875GT>G	uc003hur.2	-	3	459	c.345_345AC>C	c.(343-345)aacfs	p.N115fs	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.2_Frame_Shift_Del_p.N115fs	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	115					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	p.N115N(2)		endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	AAACCTACTCGTTTTTCAAGC	0.443													-	100205876	T	-	100205876	7	5	8	1	0	1	0	1	0	0	0	0	307	1725	60	0	807	0	ADH1A	4	100205876	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	892706	100205876	90948400	434	7456											
TET2	54790	broad.mit.edu	37	chr4	106157341	106157341	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accagcaacagcagcaaaaaTtacaaataaagaataaagag	6	7	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:106157341T>A	uc003hxk.2	+	3	2628	c.2242T>A	c.(2242-2244)TTA>ATA	p.L748I	TET2_uc011cez.1_Missense_Mutation_p.L769I|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.L748I|TET2_uc003hxi.1_Missense_Mutation_p.L748I	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	748	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GCAGCAAAAATTACAAATAAA	0.408			Mis N|F		MDS								A	106157341	T	A	106157341	3	1	8	1	0	0	0	0	1	0	0	0	15767	1490	52	5	2244	5	TET2	4	106157341	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	5951465	106157341	84996935	435	7457											
ALPK1	80216	broad.mit.edu	37	chr4	113356326	113356326	+	Frame_Shift_Del	DEL	A	A	-													gctcttttgttaaaatattcAaaaaaatctgaactgtggac							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:113356325_113356325CA>C	uc003ian.4	+	11	3283	c.3056_3056CA>C	c.(3055-3057)tcafs	p.S1019fs	ALPK1_uc003iap.4_Frame_Shift_Del_p.S1019fs|ALPK1_uc011cfx.2_Frame_Shift_Del_p.S941fs|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_Frame_Shift_Del_p.S847fs	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	1019	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTAAAATATTCAAAAAAATCT	0.353													-	113356326	A	-	113356326	7	5	8	1	0	1	0	1	0	0	0	0	544	117	5	0	3095	0	ALPK1	4	113356326	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	7198985	113356326	77797950	436	7458											
SYNPO2	171024	broad.mit.edu	37	chr4	119952870	119952870	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatccttgtttactttccaAcctccagatgcaaaggatgg	8	11	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:119952870A>G	uc003icm.3	+	4	3136	c.2940A>G	c.(2938-2940)CAA>CAG	p.Q980Q	SYNPO2_uc010ina.2_Silent_p.Q980Q|SYNPO2_uc010inb.2_Silent_p.Q980Q|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Silent_p.Q908Q	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	980						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						TTACTTTCCAACCTCCAGATG	0.498													G	119952870	A	G	119952870	2	3	8	1	0	0	0	0	0	0	0	1	15454	40	2	3		3	SYNPO2	4	119952870	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	6596544	119952870	71201406	437	7459											
MAD2L1	4085	broad.mit.edu	37	chr4	120983144	120983144	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttacctgtcatcttttgcAgtcttgtcacactcaatatc	4	11	5	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:120983144A>C	uc003idl.2	-	3	451	c.327T>G	c.(325-327)ACT>ACG	p.T109T	MAD2L1_uc003idm.2_Intron	NM_002358	NP_002349	Q13257	MD2L1_HUMAN	MAD2-like 1	109	HORMA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity				0						CATCTTTTGCAGTCTTGTCAC	0.299													C	120983144	A	C	120983144	2	2	8	1	0	0	0	0	0	0	0	1	9148	175	7	5		5	MAD2L1	4	120983144	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1030274	120983144	70171132	438	7460											
BBS7	55212	broad.mit.edu	37	chr4	122770069	122770069	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccctggatagatgtgacGctttcagacaacatctaaaa	7	11	2	3	rs142376157		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:122770069G>A	uc003ied.2	-	9	1038	c.864C>T	c.(862-864)AGC>AGT	p.S288S	BBS7_uc003iee.1_Silent_p.S288S	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	288					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1						TAGATGTGACGCTTTCAGACA	0.358									Bardet-Biedl_syndrome				A	122770069	G	A	122770069	2	1	8	1	0	0	0	0	0	0	0	1	1341	1078	38	1		1	BBS7	4	122770069	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1786925	122770069	68384207	439	7461											
ADAD1	132612	broad.mit.edu	37	chr4	123342418	123342419	+	Frame_Shift_Ins	INS	-	-	C													tatttctctctgcttagttcINScccatttaaaagtggtatgt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:123342417_123342418T>TC	uc003ieo.3	+	11	1721_1722	c.1489_1490T>TC	c.(1489-1491)tccfs	p.S497fs	ADAD1_uc003iep.3_Frame_Shift_Ins_p.S486fs|ADAD1_uc003ieq.3_Frame_Shift_Ins_p.S479fs	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	497	A to I editase.				RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCTGCTTAGTTCCCCATTTAAA	0.302													C	123342419	-	C	123342418	7	5	8	1	0	1	1	0	0	0	0	0	231	855	30	0	1528	0	ADAD1	4	123342418	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	572349	123342418	67811858	440	7462											
SPRY1	10252	broad.mit.edu	37	chr4	124323363	124323363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctgtttggcctgtaaccGgcagtgcctttgctctgctg	11	12	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:124323363G>A	uc003ifa.2	+	2	805	c.617G>A	c.(616-618)CGG>CAG	p.R206Q	SPRY1_uc003ifb.2_Missense_Mutation_p.R206Q	NM_199327	NP_955359	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling	206	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				skin(2)|ovary(1)	3						GCCTGTAACCGGCAGTGCCTT	0.522													A	124323363	G	A	124323363	3	1	8	1	0	0	0	0	1	0	0	0	15104	1116	39	1	619	1	SPRY1	4	124323363	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	980945	124323363	66830913	441	7463											
FAT4	79633	broad.mit.edu	37	chr4	126370353	126370353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactggtgaaattagaagcGttagacctttggacagggaa	12	6	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:126370353G>A	uc003ifj.3	+	9	8182	c.8182G>A	c.(8182-8184)GTT>ATT	p.V2728I	FAT4_uc011cgp.1_Missense_Mutation_p.V1026I|FAT4_uc003ifi.1_Missense_Mutation_p.V206I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2728	Cadherin 26.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AATTAGAAGCGTTAGACCTTT	0.383													A	126370353	G	A	126370353	3	1	8	1	0	0	0	0	1	0	0	0	5692	1145	40	1	8216	1	FAT4	4	126370353	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2046990	126370353	64783923	442	7464											
FAT4	79633	broad.mit.edu	37	chr4	126398366	126398366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtatcagatctctagaacCaatccttcagagaagaggac	9	9	3	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:126398366C>T	uc003ifj.3	+	13	12350	c.12350C>T	c.(12349-12351)CCA>CTA	p.P4117L	FAT4_uc011cgp.1_Missense_Mutation_p.P2380L|FAT4_uc003ifi.1_Missense_Mutation_p.P1595L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4117	Laminin G-like 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TCTCTAGAACCAATCCTTCAG	0.393													T	126398366	C	T	126398366	3	4	8	1	0	0	0	0	1	0	0	0	5692	594	21	4	12400	4	FAT4	4	126398366	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	28013	126398366	64755910	443	7465											
FAT4	79633	broad.mit.edu	37	chr4	126411789	126411789	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcctcacaactcagaaacCatccccagcgcccctttggc	5	18	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:126411789C>T	uc003ifj.3	+	17	13812	c.13812C>T	c.(13810-13812)ACC>ACT	p.T4604T	FAT4_uc011cgp.1_Silent_p.T2845T|FAT4_uc003ifi.1_Silent_p.T2081T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4604	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ACTCAGAAACCATCCCCAGCG	0.488													T	126411789	C	T	126411789	2	4	8	1	0	0	0	0	0	0	0	1	5692	581	21	4		4	FAT4	4	126411789	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	13423	126411789	64742487	444	7466											
HSPA4L	22824	broad.mit.edu	37	chr4	128741625	128741625	+	Frame_Shift_Del	DEL	A	A	-													accgattaaatcagacacttAaaaaaggaaaagtcaaaagt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:128741624_128741624TA>T	uc003ifm.3	+	13	1969	c.1716_1716TA>T	c.(1714-1716)cttfs	p.L572fs	HSPA4L_uc010iny.1_Frame_Shift_Del_p.L531fs|HSPA4L_uc011cgr.2_Frame_Shift_Del_p.L539fs	NM_014278	NP_055093	O95757	HS74L_HUMAN	Homo sapiens heat shock 70kDa protein 4-like (HSPA4L), mRNA.	572					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						ATCAGACACTTAAAAAAGGAA	0.343													-	128741625	A	-	128741625	7	5	8	1	0	1	0	1	0	0	0	0	7413	363	13	0	1771	0	HSPA4L	4	128741625	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	2329836	128741625	62412651	445	7467											
SCLT1	132320	broad.mit.edu	37	chr4	129924995	129924995	+	Frame_Shift_Del	DEL	T	T	-													cccaggggaaaggcctccaaTtttttttcaacagcatcttt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:129924994_129924994AT>A	uc003igp.2	-	5	834	c.328_328AT>T	c.(328-330)ttgfs	p.L110fs	SCLT1_uc003igq.2_Frame_Shift_Del_p.L110fs|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	110						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						AAGGCCTCCAATTTTTTTTCA	0.383													-	129924995	T	-	129924995	7	5	8	1	0	1	0	1	0	0	0	0	13906	1490	52	0	1803	0	SCLT1	4	129924995	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	1183370	129924995	61229281	446	7468											
PCDH10	57575	broad.mit.edu	37	chr4	134071537	134071537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgaacgagaaaatagaccGcgaacaaatctgcaaacaga	9	9	1	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:134071537G>A	uc003iha.2	+	1	1068	c.242G>A	c.(241-243)CGC>CAC	p.R81H	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R81H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	81	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		AAAATAGACCGCGAACAAATC	0.567													A	134071537	G	A	134071537	3	1	8	1	0	0	0	0	1	0	0	0	11507	1087	38	1	244	1	PCDH10	4	134071537	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4146542	134071537	57082739	447	7469											
PCDH10	57575	broad.mit.edu	37	chr4	134072675	134072675	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggatgtgaacgacaacgcGccgcgtttcagccagccggt	13	13	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:134072675G>A	uc003iha.2	+	1	2206	c.1380G>A	c.(1378-1380)GCG>GCA	p.A460A	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.A460A	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	460	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		ACGACAACGCGCCGCGTTTCA	0.617													A	134072675	G	A	134072675	2	1	8	1	0	0	0	0	0	0	0	1	11507	1074	38	1		1	PCDH10	4	134072675	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1138	134072675	57081601	448	7470											
ABCE1	6059	broad.mit.edu	37	chr4	146041224	146041224	+	Frame_Shift_Del	DEL	A	A	-													ataaatatccaggaatgaagAaaaaaatgggagaatttgag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:146041223_146041223GA>G	uc003ijx.3	+	10	1502	c.1062_1062GA>G	c.(1060-1062)aagfs	p.K354fs	ABCE1_uc003ijy.3_Frame_Shift_Del_p.K354fs|ABCE1_uc010iot.3_Non-coding_Transcript	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA.	354	ABC transporter 2.				RNA catabolic process|interspecies interaction between organisms|response to virus	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CAGGAATGAAGAAAAAAATGG	0.348													-	146041224	A	-	146041224	7	5	8	1	0	1	0	1	0	0	0	0	64	247	9	0	1101	0	ABCE1	4	146041224	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	11968549	146041224	45113052	449	7471											
LRBA	987	broad.mit.edu	37	chr4	151773292	151773292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaacagtagtttctggtgaCatagctgaagaccctgatgc	11	8	1	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:151773292C>T	uc010ipj.2	-	23	4044	c.3570G>A	c.(3568-3570)ATG>ATA	p.M1190I	LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Missense_Mutation_p.M1190I	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1190						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					TTTCTGGTGACATAGCTGAAG	0.403													T	151773292	C	T	151773292	3	4	8	1	0	0	0	0	1	0	0	0	8931	478	17	4	5165	4	LRBA	4	151773292	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	5732068	151773292	39380984	450	7472											
SH3D19	152503	broad.mit.edu	37	chr4	152069114	152069114	+	Frame_Shift_Del	DEL	G	G	-													ggtgtcctggtttgggacgaGggggtagcaccggatcttga							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:152069113_152069113AG>A	uc010ipl.1	-	10	2293	c.1203_1203CT>T	c.(1201-1203)cctfs	p.P401fs	SH3D19_uc003imb.2_Frame_Shift_Del_p.P179fs|SH3D19_uc003imc.2_Frame_Shift_Del_p.P365fs|SH3D19_uc003ime.2_Frame_Shift_Del_p.P401fs|SH3D19_uc010ipm.2_Frame_Shift_Del_p.P401fs	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA.	401					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	Golgi apparatus|cytosol|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GTTTGGGACGAGGGGGTAGCA	0.393													-	152069114	G	-	152069114	7	5	8	1	0	1	0	1	0	0	0	0	14249	1000	35	0	1214	0	SH3D19	4	152069114	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	295822	152069114	39085162	451	7473											
FBXW7	55294	broad.mit.edu	37	chr4	153271192	153271192	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatcattatatttaatattAccttgtatattctgagactt	3	5	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:153271192A>G	uc003ims.2	-	3	733	c.584_splice	c.e3+1	p.S195_splice	FBXW7_uc011cii.1_Splice_Site_p.S195_splice|FBXW7_uc003imt.2_Splice_Site_p.S195_splice|FBXW7_uc011cih.1_5'Flank|FBXW7_uc003imq.2_Splice_Site_p.S115_splice|FBXW7_uc003imr.2_Splice_Site_p.S77_splice	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform						interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATTTAATATTACCTTGTATAT	0.303			Mis|N|D|F		colorectal|endometrial|T-ALL								G	153271192	A	G	153271192	5	3	8	1	0	0	0	0	0	0	1	0	5769	405	14	3	1577	3	FBXW7	4	153271192	Splice_Site	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1202078	153271192	37883084	452	7474											
FHDC1	85462	broad.mit.edu	37	chr4	153897150	153897150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcagagaacgagagcatgCgcaaggtcatgcccatcacc	10	14	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:153897150C>T	uc003inf.2	+	11	2782	c.2707C>T	c.(2707-2709)CGC>TGC	p.R903C		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	903					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					CGAGAGCATGCGCAAGGTCAT	0.701													T	153897150	C	T	153897150	3	4	8	1	0	0	0	0	1	0	0	0	5876	768	27	1	2749	1	FHDC1	4	153897150	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	625958	153897150	37257126	453	7475											
TRIM2	23321	broad.mit.edu	37	chr4	154243896	154243896	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaacaaggcgtgctgcgtgTttatcttccagccaaacggg	11	11	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:154243896T>C	uc003ing.2	+	9	1999	c.1798T>C	c.(1798-1800)TTT>CTT	p.F600L	TRIM2_uc003inh.2_Missense_Mutation_p.F627L	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	600	NHL 3.					cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GTGCTGCGTGTTTATCTTCCA	0.483													C	154243896	T	C	154243896	3	2	8	1	0	0	0	0	1	0	0	0	16491	1725	60	3	1913	3	TRIM2	4	154243896	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	346746	154243896	36910380	454	7476											
DCHS2	54798	broad.mit.edu	37	chr4	155253791	155253791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaacacatcatgcaagaagGtgggggaattgtcattctca	10	8	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:155253791G>A	uc003inw.2	-	9	2072	c.2072C>T	c.(2071-2073)ACC>ATC	p.T691I	DCHS2_uc003inx.2_Missense_Mutation_p.T1190I	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	691	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGCAAGAAGGTGGGGGAATT	0.438													A	155253791	G	A	155253791	3	1	8	1	0	0	0	0	1	0	0	0	4288	1261	44	4	6842	4	DCHS2	4	155253791	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1009895	155253791	35900485	455	7477											
MAP9	79884	broad.mit.edu	37	chr4	156289916	156289916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcaacatactccttggcCgaggtgatggtttaaagtga	10	7	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:156289916C>T	uc003ios.2	-	5	794	c.530G>A	c.(529-531)CGG>CAG	p.R177Q	MAP9_uc011cin.1_Missense_Mutation_p.R176Q|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.R176Q|MAP9_uc010iqb.1_Missense_Mutation_p.R104Q	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	aster-associated protein	177					cell division|mitosis	cytoplasm|microtubule|spindle				ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		ACTCCTTGGCCGAGGTGATGG	0.378													T	156289916	C	T	156289916	3	4	8	1	0	0	0	0	1	0	0	0	9270	652	23	1	1453	1	MAP9	4	156289916	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1036125	156289916	34864360	456	7478											
GLRB	2743	broad.mit.edu	37	chr4	158074033	158074033	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtccaggtgatgctgaacaaCcccaaaagggttgaagctga	12	9	0	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:158074033C>G	uc003ipj.2	+	9	1270	c.1068C>G	c.(1066-1068)AAC>AAG	p.N356K		NM_000824	NP_000815	P48167	GLRB_HUMAN	glycine receptor, beta isoform A precursor	356	Cytoplasmic (Probable).				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			skin(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TGCTGAACAACCCCAAAAGGG	0.448													G	158074033	C	G	158074033	3	3	8	1	0	0	0	0	1	0	0	0	6458	506	18	5	1098	5	GLRB	4	158074033	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1784117	158074033	33080243	457	7479											
FAM198B	51313	broad.mit.edu	37	chr4	159092395	159092395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaagcccaagtagatggCacacgcagtgcccagcagaa	12	12	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:159092395C>T	uc003ipp.3	-	2	585	c.133G>A	c.(133-135)GCC>ACC	p.A45T	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.A45T|FAM198B_uc003ipr.3_Missense_Mutation_p.A45T|FAM198B_uc003ips.2_Missense_Mutation_p.A45T|uc003ipt.1_RNA	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	45	Helical; Signal-anchor for type II membrane protein; (Potential).					Golgi membrane|integral to membrane					0						AAGTAGATGGCACACGCAGTG	0.652													T	159092395	C	T	159092395	3	4	8	1	0	0	0	0	1	0	0	0	5529	710	25	2	1547	2	FAM198B	4	159092395	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1018362	159092395	32061881	458	7480											
RAPGEF2	9693	broad.mit.edu	37	chr4	160253651	160253651	+	Frame_Shift_Del	DEL	C	C	-													agaagagaaaagaaatggtgCcccccaccttcctaaaattg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:160253650_160253650GC>G	uc003iqg.4	+	10	1763	c.1453_1453GC>G	c.(1453-1455)gccfs	p.A485fs		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	485					MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAGAAATGGTGCCCCCCACCT	0.363													-	160253651	C	-	160253651	7	5	8	1	0	1	0	1	0	0	0	0	13044	739	26	0	1496	0	RAPGEF2	4	160253651	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	1161256	160253651	30900625	459	7481											
TKTL2	84076	broad.mit.edu	37	chr4	164394544	164394545	+	Frame_Shift_Ins	INS	-	-	G													acgtcaacaaacggcaatcgINSgggggtagggtgtctctcca							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:164394543_164394544C>CG	uc003iqp.4	-	0	504_505	c.343_344G>CG	c.(343-345)cgafs	p.R115fs		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	115						cytoplasm	metal ion binding|transketolase activity	p.P114H(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAACGGCAATCGGGGGGTAGGG	0.525													G	164394545	-	G	164394544	7	5	8	1	0	1	1	0	0	0	0	0	15933	1124	39	0	1541	0	TKTL2	4	164394544	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	4140893	164394544	26759732	460	7482											
TRIM60	166655	broad.mit.edu	37	chr4	165961428	165961428	+	Frame_Shift_Del	DEL	C	C	-													tacaagagcttcaggaggaaCccccagctccgtaatttgac							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:165961427_165961427AC>A	uc003iqy.1	+	2	373	c.203_203AC>A	c.(202-204)aacfs	p.N68fs	TRIM60_uc010iqx.1_Frame_Shift_Del_p.N68fs|TRIM60_uc021xty.1_Frame_Shift_Del_p.N68fs	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	68						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TTCAGGAGGAACCCCCAGCTC	0.463													-	165961428	C	-	165961428	7	5	8	1	0	1	0	1	0	0	0	0	16532	506	18	0	206	0	TRIM60	4	165961428	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	1566884	165961428	25192848	461	7483											
KLHL2	11275	broad.mit.edu	37	chr4	166215608	166215608	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgacaaacttaccatttcTtcagaagagaaggtaaggat	9	6	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:166215608T>G	uc003irb.2	+	6	901	c.642T>G	c.(640-642)TCT>TCG	p.S214S	KLHL2_uc011cjm.1_Silent_p.S218S|KLHL2_uc003irc.2_Silent_p.S126S|KLHL2_uc010ira.2_5'UTR	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	214					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TTACCATTTCTTCAGAAGAGA	0.338													G	166215608	T	G	166215608	2	3	8	1	0	0	0	0	0	0	0	1	8374	1596	56	5		5	KLHL2	4	166215608	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	254180	166215608	24938668	462	7484											
DDX60	55601	broad.mit.edu	37	chr4	169194431	169194431	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaattaaaataccctaccTgacagtttaaggcatcatga	5	8	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:169194431T>C	uc003irp.2	-	18	2865	c.2573A>G	c.(2572-2574)CAG>CGG	p.Q858R		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	858	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATACCCTACCTGACAGTTTAA	0.363													C	169194431	T	C	169194431	3	2	8	1	0	0	0	0	1	0	0	0	4378	1594	55	3	2649	3	DDX60	4	169194431	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	2978823	169194431	21959845	463	7485											
SH3RF1	57630	broad.mit.edu	37	chr4	170057551	170057551	+	Frame_Shift_Del	DEL	G	G	-													tgctggagctgatgaggacaGgggggctgatctccatggag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:170057550_170057550AG>A	uc003isa.1	-	4	1322	c.987_987CT>T	c.(985-987)cctfs	p.P329fs	SH3RF1_uc010irc.1_Frame_Shift_Del_p.C52fs	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	329						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TGATGAGGACAGGGGGGCTGA	0.572													-	170057551	G	-	170057551	7	5	8	1	0	1	0	1	0	0	0	0	14258	1000	35	0	1712	0	SH3RF1	4	170057551	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	863120	170057551	21096725	464	7486											
KIAA1712	80817	broad.mit.edu	37	chr4	175231102	175231102	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagagaaaaggttagactgTttggaacaaaaaatgaaagg	11	2	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:175231102T>C	uc003itr.2	+	8	1194	c.780T>C	c.(778-780)TGT>TGC	p.C260C	KIAA1712_uc010iro.2_Silent_p.C260C|KIAA1712_uc003its.2_RNA	NM_001040157	NP_001035247	Q9C0F1	CEP44_HUMAN	HBV PreS1-transactivated protein 3 isoform a	260	Potential.					centrosome|midbody|spindle pole					0		Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949)		GGTTAGACTGTTTGGAACAAA	0.348													C	175231102	T	C	175231102	2	2	8	1	0	0	0	0	0	0	0	1	8253	1731	60	3		3	KIAA1712	4	175231102	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	5173551	175231102	15923174	465	7487											
GLRA3	8001	broad.mit.edu	37	chr4	175598374	175598374	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatcaggagactgggaatgTacatctggatcagatagtat	11	6	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:175598374T>C	uc003ity.1	-	7	1285	c.782A>G	c.(781-783)TAC>TGC	p.Y261C	GLRA3_uc003itz.1_Missense_Mutation_p.Y261C	NM_006529	NP_006520	O75311	GLRA3_HUMAN	glycine receptor, alpha 3 isoform a	261	Helical; (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(3)	3		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	ACTGGGAATGTACATCTGGAT	0.443													C	175598374	T	C	175598374	3	2	8	1	0	0	0	0	1	0	0	0	6456	1638	57	3	628	3	GLRA3	4	175598374	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	367272	175598374	15555902	466	7488											
ASB5	140458	broad.mit.edu	37	chr4	177142368	177142368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaagctacatagagaggaGttcccaaatgaggaatttct	9	7	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:177142368G>A	uc003iuq.1	-	5	624	c.608C>T	c.(607-609)ACT>ATT	p.T203I	ASB5_uc003iup.1_Missense_Mutation_p.T150I	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box-containing protein	203	ANK 5.				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)		ATAGAGAGGAGTTCCCAAATG	0.408													A	177142368	G	A	177142368	3	1	8	1	0	0	0	0	1	0	0	0	1026	1029	36	4	393	4	ASB5	4	177142368	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1543994	177142368	14011908	467	7489											
VEGFC	7424	broad.mit.edu	37	chr4	177648991	177648991	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcccctcactattgcagcAacccccacatctgtagacgg	7	17	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:177648991A>G	uc003ius.1	-	3	923	c.493T>C	c.(493-495)TGC>CGC	p.C165R		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	165					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(5)	5		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CTATTGCAGCAACCCCCACAT	0.547													G	177648991	A	G	177648991	3	3	8	1	0	0	0	0	1	0	0	0	17149	130	5	3	789	3	VEGFC	4	177648991	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	506623	177648991	13505285	468	7490											
CDKN2AIP	55602	broad.mit.edu	37	chr4	184368553	184368553	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtaaacttacctccagcActaaaacatcctcaagaatt	3	13	1	1	rs143559678		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:184368553A>G	uc003ivp.1	+	3	1878	c.1716A>G	c.(1714-1716)GCA>GCG	p.A572A	CDKN2AIP_uc003ivq.1_Silent_p.A317A	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	572					negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding				0		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TACCTCCAGCACTAAAACATC	0.338													G	184368553	A	G	184368553	2	3	8	1	0	0	0	0	0	0	0	1	3162	146	6	3		3	CDKN2AIP	4	184368553	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	6719562	184368553	6785723	469	7491											
C4orf41	60684	broad.mit.edu	37	chr4	184585026	184585026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgacatcgtaaacatgagCcccacacagtgggacttccc	9	13	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:184585026C>T	uc003ivx.2	+	2	182	c.6C>T	c.(4-6)AGC>AGT	p.S2S	C4orf41_uc003ivw.2_Silent_p.S2S|C4orf41_uc010isc.2_5'UTR	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	2											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		TAAACATGAGCCCCACACAGT	0.348													T	184585026	C	T	184585026	2	4	8	1	0	0	0	0	0	0	0	1	2270	738	26	2		2	C4orf41	4	184585026	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	216473	184585026	6569250	470	7492											
CCDC111	201973	broad.mit.edu	37	chr4	185593391	185593391	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtgaagatgatgatagCgctccagagacaacaggcca	13	9	0	5			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:185593391C>T	uc003iwk.2	+	7	1054	c.621C>T	c.(619-621)AGC>AGT	p.S207S	CCDC111_uc010isd.1_RNA|CCDC111_uc003iwj.2_Silent_p.S207S|CCDC111_uc003iwl.2_Silent_p.S207S|CCDC111_uc003iwm.2_Silent_p.S78S|CCDC111_uc003iwn.2_Silent_p.S32S	NM_152683	NP_689896	Q96LW4	CC111_HUMAN	coiled-coil domain containing 111	207					DNA replication, synthesis of RNA primer		DNA primase activity			central_nervous_system(1)	1		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		ATGATGATAGCGCTCCAGAGA	0.398													T	185593391	C	T	185593391	2	4	8	1	0	0	0	0	0	0	0	1	2748	767	27	1		1	CCDC111	4	185593391	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1008365	185593391	5560885	471	7493											
CCDC110	256309	broad.mit.edu	37	chr4	186381064	186381064	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgcttgagaaaaggcacaGtaattttggatttatccaga	9	6	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:186381064G>T	uc003ixu.3	-	6	753	c.677C>A	c.(676-678)ACT>AAT	p.T226N	CCDC110_uc003ixv.3_Missense_Mutation_p.T189N|CCDC110_uc011ckt.1_Missense_Mutation_p.T226N	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	226						nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AAAAGGCACAGTAATTTTGGA	0.333													T	186381064	G	T	186381064	3	4	8	1	0	0	0	0	1	0	0	0	2747	1029	36	5	1832	5	CCDC110	4	186381064	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	787673	186381064	4773212	472	7494											
F11	2160	broad.mit.edu	37	chr4	187195296	187195296	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaagacatttatgtggacCtagacatgaagggcataaac	9	7	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:187195296C>A	uc003iza.1	+	5	685	c.352C>A	c.(352-354)CTA>ATA	p.L118I	F11_uc003iyz.2_Missense_Mutation_p.L118I	NM_000128	NP_000119	P03951	FA11_HUMAN	coagulation factor XI precursor	118	Apple 2.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity				0		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TTATGTGGACCTAGACATGAA	0.448													A	187195296	C	A	187195296	3	1	8	1	0	0	0	0	1	0	0	0	5337	680	24	5	366	5	F11	4	187195296	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	814232	187195296	3958980	473	7495											
FAM173B	134145	broad.mit.edu	37	chr5	10239183	10239183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttagcagaactcacaatgCgtccgtccccactaccgatg	7	14	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:10239183C>T	uc003jeo.2	-	2	331	c.302G>A	c.(301-303)CGC>CAC	p.R101H	FAM173B_uc003jep.2_RNA|FAM173B_uc010itr.2_Missense_Mutation_p.R101H	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN	hypothetical protein LOC134145	101						integral to membrane				kidney(1)|central_nervous_system(1)	2						ACTCACAATGCGTCCGTCCCC	0.398													T	10239183	C	T	10239183	3	4	8	1	0	0	0	0	1	0	0	0	5494	768	27	1	415	1	FAM173B	5	10239183	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08		10239183	170676077	474	7496											
DNAH5	1767	broad.mit.edu	37	chr5	13845019	13845019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgtatagtgtgggagtccGacgcctgccccagaatctct	11	13	1	1	rs146087064		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:13845019G>A	uc003jfd.2	-	32	5240	c.5198C>T	c.(5197-5199)TCG>TTG	p.S1733L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1733	Stem (By similarity).				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)					GTGGGAGTCCGACGCCTGCCC	0.463									Kartagener_syndrome				A	13845019	G	A	13845019	3	1	8	1	0	0	0	0	1	0	0	0	4604	1059	37	1	8868	1	DNAH5	5	13845019	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3605836	13845019	167070241	475	7497											
MYO10	4651	broad.mit.edu	37	chr5	16699619	16699619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagctgtacacagagtcacGccggtatgaaagctcatcat	9	11	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:16699619G>A	uc003jft.3	-	26	3964	c.3496C>T	c.(3496-3498)CGT>TGT	p.R1166C	MYO10_uc011cnc.1_Missense_Mutation_p.R45C|MYO10_uc011cnd.1_Missense_Mutation_p.R523C|MYO10_uc011cne.1_Missense_Mutation_p.R523C|MYO10_uc010itx.2_Missense_Mutation_p.R789C	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1166					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						ACAGAGTCACGCCGGTATGAA	0.493													A	16699619	G	A	16699619	3	1	8	1	0	0	0	0	1	0	0	0	10062	1087	38	1	2744	1	MYO10	5	16699619	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2854600	16699619	164215641	476	7498											
MYO10	4651	broad.mit.edu	37	chr5	16764481	16764481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgcatacagagccatggCcagggagtccctgctgtcta	12	13	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:16764481C>T	uc003jft.3	-	12	1672	c.1204G>A	c.(1204-1206)GCC>ACC	p.A402T	MYO10_uc010itx.2_Missense_Mutation_p.A25T	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	402	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						AGAGCCATGGCCAGGGAGTCC	0.547													T	16764481	C	T	16764481	3	4	8	1	0	0	0	0	1	0	0	0	10062	739	26	2	5092	2	MYO10	5	16764481	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	64862	16764481	164150779	477	7499											
CDH12	1010	broad.mit.edu	37	chr5	22078600	22078600	+	Frame_Shift_Del	DEL	A	A	-													cccacgtattcttccagcacAaaaaattgattccataccca							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:22078599_22078599CA>C	uc010iuc.2	-	1	645	c.187_187TG>G	c.(187-189)gtgfs	p.V63fs	CDH12_uc011cno.1_Frame_Shift_Del_p.V63fs|CDH12_uc003jgk.2_Frame_Shift_Del_p.V63fs	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	63	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTTCCAGCACAAAAAATTGA	0.458										HNSCC(59;0.17)			-	22078600	A	-	22078600	7	5	8	1	0	1	0	1	0	0	0	0	3098	127	5	0	2242	0	CDH12	5	22078600	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	5314119	22078600	158836660	478	7500											
RNASEN	29102	broad.mit.edu	37	chr5	31515179	31515179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaagaagttcttcttcttcCtcctcattcttgtcaggcat	5	11	6	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:31515179C>T	uc003jhg.2	-	7	1565	c.1206G>A	c.(1204-1206)GAG>GAA	p.E402E	RNASEN_uc003jhh.2_Silent_p.E365E|RNASEN_uc003jhi.2_Silent_p.E365E|RNASEN_uc010iui.1_Silent_p.E325E	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	402					gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						CTTCTTCTTCCTCCTCATTCT	0.468													T	31515179	C	T	31515179	2	4	8	1	0	0	0	0	0	0	0	1	13417	680	24	4		4	RNASEN	5	31515179	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	9436579	31515179	149400081	479	7501											
PDZD2	23037	broad.mit.edu	37	chr5	32069705	32069705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaaatggatgaagtcataGcacgcagcacttatcaggag	12	7	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:32069705G>A	uc003jhl.2	+	15	2870	c.2482G>A	c.(2482-2484)GCA>ACA	p.A828T	PDZD2_uc003jhm.2_Missense_Mutation_p.A828T|PDZD2_uc011cnx.1_Missense_Mutation_p.A654T	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	828					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						TGAAGTCATAGCACGCAGCAC	0.388													A	32069705	G	A	32069705	3	1	8	1	0	0	0	0	1	0	0	0	11701	971	34	2	2536	2	PDZD2	5	32069705	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	554526	32069705	148845555	480	7502											
PDZD2	23037	broad.mit.edu	37	chr5	32088835	32088835	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagtctgtcctccttcAgtgtggatgtccctaagaat	9	12	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:32088835A>G	uc003jhl.2	+	20	5669	c.5281A>G	c.(5281-5283)AGT>GGT	p.S1761G	PDZD2_uc003jhm.2_Missense_Mutation_p.S1761G	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1761					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GTCCTCCTTCAGTGTGGATGT	0.448													G	32088835	A	G	32088835	3	3	8	1	0	0	0	0	1	0	0	0	11701	188	7	3	5355	3	PDZD2	5	32088835	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	19130	32088835	148826425	481	7503											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576232	33576232	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtaattggaggcatttAgcaaaaagccctcagtaatc	9	8	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:33576232A>G	uc003jia.1	-	19	4062	c.3899T>C	c.(3898-3900)CTA>CCA	p.L1300P	ADAMTS12_uc010iuq.1_Missense_Mutation_p.L1215P	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1300	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GGAGGCATTTAGCAAAAAGCC	0.488										HNSCC(64;0.19)			G	33576232	A	G	33576232	3	3	8	1	0	0	0	0	1	0	0	0	257	420	15	3	909	3	ADAMTS12	5	33576232	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1487397	33576232	147339028	482	7504											
NIPBL	25836	broad.mit.edu	37	chr5	36976272	36976272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgctgctcaatgtttgtcGcagcaagaacaaacagcatt	8	9	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:36976272G>A	uc003jkl.3	+	9	1762	c.1263G>A	c.(1261-1263)TCG>TCA	p.S421S	NIPBL_uc003jkk.3_Silent_p.S421S|NIPBL_uc003jkm.1_Silent_p.S300S	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	421	Gln-rich.				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AATGTTTGTCGCAGCAAGAAC	0.423													A	36976272	G	A	36976272	2	1	8	1	0	0	0	0	0	0	0	1	10428	1074	38	1		1	NIPBL	5	36976272	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3400040	36976272	143938988	483	7505											
NIPBL	25836	broad.mit.edu	37	chr5	37022373	37022373	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaacgaggtgttcatggaCgattgatggataattcgact	12	6	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:37022373C>T	uc003jkl.3	+	29	5954	c.5455C>T	c.(5455-5457)CGA>TGA	p.R1819*	NIPBL_uc003jkk.3_Nonsense_Mutation_p.R1819*	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1819					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGTTCATGGACGATTGATGGA	0.358													T	37022373	C	T	37022373	4	4	8	1	0	0	0	0	0	1	0	0	10428	528	19	1	5565	1	NIPBL	5	37022373	Nonsense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	46101	37022373	143892887	484	7506											
LIFR	3977	broad.mit.edu	37	chr5	38506042	38506042	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taactaaaattgttgattgtGatcgacccagcggattgtga	10	6	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:38506042G>A	uc010ive.1	-	9	1588	c.1256C>T	c.(1255-1257)TCA>TTA	p.S419L	LIFR_uc003jli.2_Missense_Mutation_p.S419L	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	419	Fibronectin type-III 2.|Extracellular (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					TGTTGATTGTGATCGACCCAG	0.284			T	PLAG1	salivary adenoma								A	38506042	G	A	38506042	3	1	8	1	0	0	0	0	1	0	0	0	8780	1294	45	4	2085	4	LIFR	5	38506042	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1483669	38506042	142409218	485	7507											
PLCXD3	345557	broad.mit.edu	37	chr5	41382224	41382224	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttcctgggcaaaaatcgcTgggcacattttatttccata	7	10	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:41382224T>C	uc003jmm.1	-	2	618	c.516A>G	c.(514-516)CCA>CCG	p.P172P		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	172	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						CAAAAATCGCTGGGCACATTT	0.428													C	41382224	T	C	41382224	2	2	8	1	0	0	0	0	0	0	0	1	12043	1567	55	3		3	PLCXD3	5	41382224	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	2876182	41382224	139533036	486	7508											
ITGA2	3673	broad.mit.edu	37	chr5	52351982	52351982	+	Splice_Site	DEL	A	A	-													aaattttcagcattgaaggtAaaaaaaataacctcctttca							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:52351981_52351981TA>T	uc003joy.3	+	9	1239	c.1096_splice	c.e9+2	p.G366_splice	ITGA2_uc011cqa.2_Splice_Site|ITGA2_uc011cqb.2_Splice_Site|ITGA2_uc011cqc.2_Splice_Site_p.G290_splice|ITGA2_uc011cqd.2_Splice_Site|ITGA2_uc011cqe.2_Splice_Site	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	366					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GCATTGAAGGTAAAAAAAATA	0.294													-	52351982	A	-	52351982	8	5	8	1	0	1	0	1	0	0	1	0	7875	377	13	0		0	ITGA2	5	52351982	Splice_Site	DEL	A	TCGA-BR-4201-01A-01D-1126-08	10969758	52351982	128563278	487	7509											
ITGA2	3673	broad.mit.edu	37	chr5	52369066	52369067	+	Frame_Shift_Ins	INS	-	-	T													tgatttttcagaaaacttgtINStttttgcatcattctccctg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:52369065_52369066G>GT	uc003joy.3	+	19	2690_2691	c.2547_2548G>GT	c.(2545-2550)ttgtttfs	p.L849fs	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Frame_Shift_Ins_p.L773fs|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Intron	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	849					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CAGAAAACTTGTTTTTTGCATC	0.381													T	52369067	-	T	52369066	7	5	8	1	0	1	1	0	0	0	0	0	7875	1725	60	0	2626	0	ITGA2	5	52369066	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	17084	52369066	128546194	488	7510											
MOCS2	4338	broad.mit.edu	37	chr5	52402940	52402940	+	Frame_Shift_Del	DEL	G	G	-													aagcactatcctccactaatGggggggataacggcaatttc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:52402939_52402939TG>T	uc003joz.3	-	2	480	c.66_66CA>A	c.(64-66)ccafs	p.P22fs	MOCS2_uc011cqf.2_Frame_Shift_Del_p.I85fs|LOC257396_uc003jpb.2_5'Flank	NM_004531	NP_004522	O96033	MOC2A_HUMAN	Homo sapiens molybdenum cofactor synthesis 2 (MOCS2), transcript variant 3, mRNA.	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	p.P21P(1)		endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATA	0.428													-	52402940	G	-	52402940	7	5	8	1	0	1	0	1	0	0	0	0	9691	1348	47	0	521	0	MOCS2	5	52402940	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	33874	52402940	128512320	489	7511											
ARL15	54622	broad.mit.edu	37	chr5	53409092	53409092	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaatattaaaaagggtaaAgtgcataactgtggatgctg	11	5	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:53409092A>G	uc003jpg.1	-	4	496	c.402T>C	c.(400-402)ACT>ACC	p.T134T	ARL15_uc010ivs.1_RNA	NM_019087	NP_061960	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	134							GTP binding			ovary(1)	1		Lung NSC(810;0.000779)				AAAAGGGTAAAGTGCATAACT	0.423													G	53409092	A	G	53409092	2	3	8	1	0	0	0	0	0	0	0	1	931	59	3	3		3	ARL15	5	53409092	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1006152	53409092	127506168	490	7512											
DHX29	54505	broad.mit.edu	37	chr5	54586096	54586096	+	Frame_Shift_Del	DEL	T	T	-													cctctttttggccttgcttgTttttttctagtttaaaggta							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:54586095_54586095GT>G	uc003jpx.3	-	6	978	c.858_858AC>C	c.(856-858)aacfs	p.N286fs	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	286							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GGCCTTGCTTGTTTTTTTCTA	0.328													-	54586096	T	-	54586096	7	5	8	1	0	1	0	1	0	0	0	0	4503	1725	60	0	3336	0	DHX29	5	54586096	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	1177004	54586096	126329164	491	7513											
MAP3K1	4214	broad.mit.edu	37	chr5	56177584	56177584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactcacttcaccaggatgCgtcgccgtttgatggctatt	9	13	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:56177584C>T	uc003jqw.3	+	14	3058	c.2557C>T	c.(2557-2559)CGT>TGT	p.R853C		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	853					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CACCAGGATGCGTCGCCGTTT	0.468													T	56177584	C	T	56177584	3	4	8	1	0	0	0	0	1	0	0	0	9243	768	27	1	2611	1	MAP3K1	5	56177584	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1591488	56177584	124737676	492	7514											
ADAMTS6	11174	broad.mit.edu	37	chr5	64537967	64537967	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagttataatactttcctcGgaaaggcatattgtcaaagt	7	8	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:64537967G>A	uc003jtp.2	-	15	2711	c.1897C>T	c.(1897-1899)CGA>TGA	p.R633*	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Nonsense_Mutation_p.R254*	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	633					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TACTTTCCTCGGAAAGGCATA	0.368													A	64537967	G	A	64537967	4	1	8	1	0	0	0	0	0	1	0	0	270	1124	39	1	1500	1	ADAMTS6	5	64537967	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	8360383	64537967	116377293	493	7515											
ADAMTS6	11174	broad.mit.edu	37	chr5	64556430	64556430	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttggttttacttacatcTgtgttacaggagcgataccg	10	7	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:64556430T>C	uc003jtp.2	-	14	2641	c.1827A>G	c.(1825-1827)ACA>ACG	p.T609T	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Silent_p.T230T	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	609	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TACTTACATCTGTGTTACAGG	0.264													C	64556430	T	C	64556430	2	2	8	1	0	0	0	0	0	0	0	1	270	1567	55	3		3	ADAMTS6	5	64556430	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	18463	64556430	116358830	494	7516											
BDP1	55814	broad.mit.edu	37	chr5	70791221	70791221	+	Frame_Shift_Del	DEL	A	A	-													gaagaaagaaatgttgacctAaaaaataattcactgtaagt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:70791220_70791220TA>T	uc003kbp.1	+	11	2047	c.1784_1784TA>T	c.(1783-1785)ctafs	p.L595fs	BDP1_uc003kbn.1_Frame_Shift_Del_p.L595fs|BDP1_uc003kbo.3_Frame_Shift_Del_p.L595fs	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	595					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AATGTTGACCTAAAAAATAAT	0.303													-	70791221	A	-	70791221	7	5	8	1	0	1	0	1	0	0	0	0	1395	349	13	0	1831	0	BDP1	5	70791221	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	6234791	70791221	110124039	495	7517											
BDP1	55814	broad.mit.edu	37	chr5	70840949	70840949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgagacagggccctgcaCacttggtttggataggggtc	14	10	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:70840949C>T	uc003kbp.1	+	32	6910	c.6647C>T	c.(6646-6648)ACA>ATA	p.T2216I	BDP1_uc003kbo.2_Missense_Mutation_p.T2216I|BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	2216					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GGGCCCTGCACACTTGGTTTG	0.473													T	70840949	C	T	70840949	3	4	8	1	0	0	0	0	1	0	0	0	1395	478	17	4	6773	4	BDP1	5	70840949	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	49728	70840949	110074311	496	7518											
MAP1B	4131	broad.mit.edu	37	chr5	71495077	71495078	+	Frame_Shift_Ins	INS	-	-	C													taagtgaaaagaccaccagcINSccccccgaagtgagtggtta							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:71495076_71495077G>GC	uc003kbw.4	+	4	6135_6136	c.5894_5895G>GC	c.(5893-5895)agcfs	p.S1965fs	MAP1B_uc010iyw.1_Frame_Shift_Ins_p.S1982fs|MAP1B_uc010iyx.1_Frame_Shift_Ins_p.S1839fs|MAP1B_uc010iyy.1_Frame_Shift_Ins_p.S1839fs	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													C	71495078	-	C	71495077	7	5	8	1	0	1	1	0	0	0	0	0	9228	738	26	0	5913	0	MAP1B	5	71495077	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	654128	71495077	109420183	497	7519											
MAP1B	4131	broad.mit.edu	37	chr5	71495820	71495820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccgcagcccttcgccacGccaccctgatgtgtccatgg	10	17	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:71495820G>A	uc003kbw.3	+	5	6879	c.6638G>A	c.(6637-6639)CGC>CAC	p.R2213H	MAP1B_uc010iyw.1_Missense_Mutation_p.R2230H|MAP1B_uc010iyx.1_Missense_Mutation_p.R2087H|MAP1B_uc010iyy.1_Missense_Mutation_p.R2087H	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2213						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCTTCGCCACGCCACCCTGAT	0.537													A	71495820	G	A	71495820	3	1	8	1	0	0	0	0	1	0	0	0	9228	1087	38	1	6656	1	MAP1B	5	71495820	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	743	71495820	109419440	498	7520											
HMGCR	3156	broad.mit.edu	37	chr5	74655088	74655088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcataggaggctacaacGcccatgcagcaaacattgtc	11	11	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:74655088G>A	uc003kdp.2	+	17	2407	c.2251G>A	c.(2251-2253)GCC>ACC	p.A751T	HMGCR_uc011cst.1_Missense_Mutation_p.A771T|HMGCR_uc003kdq.2_Missense_Mutation_p.A698T|HMGCR_uc010izo.2_Missense_Mutation_p.A74T|HMGCR_uc010izp.2_Intron	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	751	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	AGGCTACAACGCCCATGCAGC	0.468													A	74655088	G	A	74655088	3	1	8	1	0	0	0	0	1	0	0	0	7231	1087	38	1	2313	1	HMGCR	5	74655088	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3159268	74655088	106260172	499	7521											
SV2C	22987	broad.mit.edu	37	chr5	75596664	75596664	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actatagtgcctactggattTattttgtcaactttctgggg	9	7	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:75596664T>A	uc003kei.1	+	11	1881	c.1747T>A	c.(1747-1749)TAT>AAT	p.Y583N		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	583	Helical; (Potential).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CTACTGGATTTATTTTGTCAA	0.393													A	75596664	T	A	75596664	3	1	8	1	0	0	0	0	1	0	0	0	15416	1754	61	5	1785	5	SV2C	5	75596664	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	941576	75596664	105318596	500	7522											
WDR41	55255	broad.mit.edu	37	chr5	76788019	76788019	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtccctgcggttctcgGcctcccccgatcagccatcg	10	19	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:76788019G>A	uc003kff.1	-	1	314	c.27C>T	c.(25-27)GGC>GGT	p.G9G	WDR41_uc011csy.1_Silent_p.G9G|WDR41_uc011csz.1_Silent_p.G9G|WDR41_uc011cta.1_RNA|WDR41_uc011ctb.1_RNA	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	9											0		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		GCGGTTCTCGGCCTCCCCCGA	0.697													A	76788019	G	A	76788019	2	1	8	1	0	0	0	0	0	0	0	1	17291	1190	42	2		2	WDR41	5	76788019	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1191355	76788019	104127241	501	7523											
BHMT2	23743	broad.mit.edu	37	chr5	78379171	78379171	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactgtggcaaagaggggtTtgtggatctcccagaatatc	13	7	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:78379171T>C	uc003kft.2	+	6	778	c.755T>C	c.(754-756)TTT>TCT	p.F252S	BHMT2_uc011cth.1_Missense_Mutation_p.F188S	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	betaine-homocysteine methyltransferase 2	252	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	AAAGAGGGGTTTGTGGATCTC	0.512													C	78379171	T	C	78379171	3	2	8	1	0	0	0	0	1	0	0	0	1426	1841	64	3	777	3	BHMT2	5	78379171	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	1591152	78379171	102536089	502	7524											
JMY	133746	broad.mit.edu	37	chr5	78596523	78596523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagatgaagtggtatactAtgacacttacgaaagcatgg	11	5	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:78596523A>G	uc003kfx.3	+	6	2238	c.1718A>G	c.(1717-1719)TAT>TGT	p.Y573C	JMY_uc003kfw.1_Missense_Mutation_p.Y219C	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	junction-mediating and regulatory protein	573					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity				0		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		GTGGTATACTATGACACTTAC	0.289													G	78596523	A	G	78596523	3	3	8	1	0	0	0	0	1	0	0	0	7957	449	16	3	1740	3	JMY	5	78596523	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	217352	78596523	102318737	503	7525											
RPS23	6228	broad.mit.edu	37	chr5	81573573	81573573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagggttggcctttagggCtgtgcccaaatgagctttct	12	8	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:81573573C>T	uc003khu.2	-	2	196	c.103G>A	c.(103-105)GCC>ACC	p.A35T	ATP6AP1L_uc003khv.2_5'Flank	NM_001025	NP_001016	P62266	RS23_HUMAN	ribosomal protein S23	35					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome				0		Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31)		GCCTTTAGGGCTGTGCCCAAA	0.463													T	81573573	C	T	81573573	3	4	8	1	0	0	0	0	1	0	0	0	13634	797	28	2	340	2	RPS23	5	81573573	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2977050	81573573	99341687	504	7526											
VCAN	1462	broad.mit.edu	37	chr5	82833950	82833950	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccaagtttgtaagtgaaacaGacacttctgagtggatttcc	9	8	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:82833950G>A	uc003kii.3	+	8	5484	c.5128G>A	c.(5128-5130)GAC>AAC	p.D1710N	VCAN_uc003kij.3_Missense_Mutation_p.D723N|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.D374N	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1710	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAGTGAAACAGACACTTCTGA	0.423													A	82833950	G	A	82833950	3	1	8	1	0	0	0	0	1	0	0	0	17135	942	33	4	5154	4	VCAN	5	82833950	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1260377	82833950	98081310	505	7527											
EDIL3	10085	broad.mit.edu	37	chr5	83402507	83402507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattttctgcagctgtccacGcatttataagccccttctta	5	13	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:83402507G>A	uc003kio.1	-	6	1030	c.611C>T	c.(610-612)GCG>GTG	p.A204V	EDIL3_uc003kip.1_Missense_Mutation_p.A194V	NM_005711	NP_005702	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like	204	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			skin(2)	2		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		AGCTGTCCACGCATTTATAAG	0.418													A	83402507	G	A	83402507	3	1	8	1	0	0	0	0	1	0	0	0	4915	1087	38	1	855	1	EDIL3	5	83402507	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	568557	83402507	97512753	506	7528											
NR2F1	7025	broad.mit.edu	37	chr5	92923897	92923897	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccggatctgcagatcacCgaccaggtgtccctgctacg	10	15	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:92923897C>T	uc003kkj.2	+	2	2425	c.738C>T	c.(736-738)ACC>ACT	p.T246T		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	246					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TGCAGATCACCGACCAGGTGT	0.662													T	92923897	C	T	92923897	2	4	8	1	0	0	0	0	0	0	0	1	10627	639	23	1		1	NR2F1	5	92923897	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	9521390	92923897	87991363	507	7529											
SPATA9	83890	broad.mit.edu	37	chr5	95011143	95011143	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatataggggttgcctcggCgcattaacttccctcagcag	10	11	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:95011143C>T	uc003klj.1	-	3	507	c.351G>A	c.(349-351)GCG>GCA	p.A117A	SPATA9_uc010jbh.1_RNA|SPATA9_uc003klh.1_RNA|SPATA9_uc003kli.1_Intron	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	117					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane					0		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		GTTGCCTCGGCGCATTAACTT	0.408													T	95011143	C	T	95011143	2	4	8	1	0	0	0	0	0	0	0	1	15015	755	27	1		1	SPATA9	5	95011143	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2087246	95011143	85904117	508	7530											
ST8SIA4	7903	broad.mit.edu	37	chr5	100222222	100222222	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggcgcctgtcaagcacatAgtgtatgacatcaccaggct	10	13	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:100222222A>G	uc003knk.2	-	3	656	c.328T>C	c.(328-330)TAT>CAT	p.Y110H	ST8SIA4_uc003knl.2_Missense_Mutation_p.Y110H	NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	110	Lumenal (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TCAAGCACATAGTGTATGACA	0.428													G	100222222	A	G	100222222	3	3	8	1	0	0	0	0	1	0	0	0	15233	420	15	3	767	3	ST8SIA4	5	100222222	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	5211079	100222222	80693038	509	7531											
NUDT12	83594	broad.mit.edu	37	chr5	102890483	102890483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaagtaaacatgcctggggGaaatcttttctgcctgccta	10	10	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:102890483G>A	uc003koi.2	-	5	1129	c.1036C>T	c.(1036-1038)CCC>TCC	p.P346S	NUDT12_uc011cvb.1_Missense_Mutation_p.P328S	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN	nudix-type motif 12	346	Nudix hydrolase.					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity				0		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		ATGCCTGGGGGAAATCTTTTC	0.328													A	102890483	G	A	102890483	3	1	8	1	0	0	0	0	1	0	0	0	10728	1174	41	4	364	4	NUDT12	5	102890483	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2668261	102890483	78024777	510	7532											
FAM170A	340069	broad.mit.edu	37	chr5	118965518	118965518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaagagtcccaggaaaccGctgagaagggaggaggtatg	16	6	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:118965518G>A	uc003ksm.2	+	1	265	c.55G>A	c.(55-57)GCT>ACT	p.A19T	FAM170A_uc003ksl.2_Missense_Mutation_p.A19T|FAM170A_uc003ksn.2_Missense_Mutation_p.A19T|FAM170A_uc003kso.2_Missense_Mutation_p.A19T	NM_182761	NP_877438	A1A519	F170A_HUMAN	family with sequence similarity 170, member A	19						intracellular	zinc ion binding			skin(1)	1						CCAGGAAACCGCTGAGAAGGG	0.433													A	118965518	G	A	118965518	3	1	8	1	0	0	0	0	1	0	0	0	5489	1087	38	1	57	1	FAM170A	5	118965518	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	16075035	118965518	61949742	511	7533											
ZNF608	57507	broad.mit.edu	37	chr5	124036739	124036739	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgccacacgatcccttccAaattcacactggtcccaggt	6	16	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:124036739A>G	uc003ktq.1	-	2	1253	c.1130T>C	c.(1129-1131)TTG>TCG	p.L377S	ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Missense_Mutation_p.L377S|ZNF608_uc003ktt.1_Missense_Mutation_p.L377S	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	377						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GATCCCTTCCAAATTCACACT	0.448													G	124036739	A	G	124036739	3	3	8	1	0	0	0	0	1	0	0	0	18031	131	5	3	3440	3	ZNF608	5	124036739	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	5071221	124036739	56878521	512	7534											
MEGF10	84466	broad.mit.edu	37	chr5	126781226	126781226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgattcctaccagatcGgggccattgcaggcatcatc	10	13	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:126781226G>A	uc003kuh.3	+	21	2931	c.2569G>A	c.(2569-2571)GGG>AGG	p.G857R	MEGF10_uc003kui.3_Missense_Mutation_p.G857R	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	857	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTACCAGATCGGGGCCATTGC	0.433													A	126781226	G	A	126781226	3	1	8	1	0	0	0	0	1	0	0	0	9460	1116	39	1	2643	1	MEGF10	5	126781226	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2744487	126781226	54134034	513	7535											
FBN2	2201	broad.mit.edu	37	chr5	127637177	127637177	+	Frame_Shift_Del	DEL	A	A	-													ccatttctgcacacctgaccAaaaaaggaactgcactcatc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:127637176_127637176CA>C	uc003kuu.3	-	46	6383	c.5944_5944TG>G	c.(5944-5946)ggtfs	p.G1982fs		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1982	EGF-like 33; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACACCTGACCAAAAAAGGAA	0.363													-	127637177	A	-	127637177	7	5	8	1	0	1	0	1	0	0	0	0	5703	127	5	0	2871	0	FBN2	5	127637177	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	855951	127637177	53278083	514	7536											
ADAMTS19	171019	broad.mit.edu	37	chr5	128983558	128983558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccgaacctgcagtgctgGgatcagcagtcgagagcgca	14	11	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:128983558G>A	uc003kvb.1	+	12	1955	c.1955G>A	c.(1954-1956)GGG>GAG	p.G652E	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	652	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGCAGTGCTGGGATCAGCAGT	0.517													A	128983558	G	A	128983558	3	1	8	1	0	0	0	0	1	0	0	0	264	1232	43	4	2001	4	ADAMTS19	5	128983558	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1346381	128983558	51931702	515	7537											
RAPGEF6	51735	broad.mit.edu	37	chr5	130846113	130846113	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcttcatcttcctcttcGtcatcctcagaatcaacagg	4	14	7	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:130846113G>A	uc003kvn.1	-	8	905	c.699C>T	c.(697-699)GAC>GAT	p.D233D	RAPGEF6_uc003kvp.1_Silent_p.D283D|RAPGEF6_uc003kvo.1_Silent_p.D233D|RAPGEF6_uc010jdi.1_Silent_p.D233D|RAPGEF6_uc010jdj.1_Silent_p.D233D|RAPGEF6_uc003kvq.2_5'Flank|RAPGEF6_uc003kvr.2_Silent_p.D233D|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Silent_p.D233D	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	233					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CTTCCTCTTCGTCATCCTCAG	0.433													A	130846113	G	A	130846113	2	1	8	1	0	0	0	0	0	0	0	1	13048	1136	40	1		1	RAPGEF6	5	130846113	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1862555	130846113	50069147	516	7538											
PPP2CA	5515	broad.mit.edu	37	chr5	133536739	133536739	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagtgtatctatagatggCgagagaccaccatgtagaca	10	9	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:133536739C>T	uc003kze.2	-	4	911	c.513G>A	c.(511-513)TCG>TCA	p.S171S		NM_002715	NP_002706	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha	171					ceramide metabolic process|inactivation of MAPK activity|induction of apoptosis|meiosis|negative regulation of cell growth|negative regulation of epithelial to mesenchymal transition|negative regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of protein serine/threonine kinase activity|protein dephosphorylation|regulation of cell adhesion|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction|spindle pole	metal ion binding|phosphoprotein phosphatase activity			ovary(2)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)	CTATAGATGGCGAGAGACCAC	0.323													T	133536739	C	T	133536739	2	4	8	1	0	0	0	0	0	0	0	1	12380	755	27	1		1	PPP2CA	5	133536739	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2690626	133536739	47378521	517	7539											
LECT2	3950	broad.mit.edu	37	chr5	135283098	135283098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccaggataaactttctgCaagggcaatagagttccaag	10	8	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:135283098C>T	uc003lbe.1	-	4	579	c.378G>A	c.(376-378)TTG>TTA	p.L126L	FBXL21_uc003lbc.2_Intron	NM_002302	NP_002293	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2 precursor	126					chemotaxis|skeletal system development	cytoplasm|extracellular space				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAACTTTCTGCAAGGGCAATA	0.383													T	135283098	C	T	135283098	2	4	8	1	0	0	0	0	0	0	0	1	8713	709	25	2		2	LECT2	5	135283098	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1746359	135283098	45632162	518	7540											
KLHL3	26249	broad.mit.edu	37	chr5	136964110	136964110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtggcgtacagctgtccGctaagcactccaacccctga	9	16	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:136964110G>A	uc010jek.2	-	13	1911	c.1467C>T	c.(1465-1467)AGC>AGT	p.S489S	KLHL3_uc011cyc.1_Silent_p.S224S|KLHL3_uc003lbr.3_Silent_p.S407S|KLHL3_uc011cyd.1_RNA	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	kelch-like 3	489	Kelch 4.					cytoplasm|cytoskeleton	actin binding|structural molecule activity				0		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		ACAGCTGTCCGCTAAGCACTC	0.448													A	136964110	G	A	136964110	2	1	8	1	0	0	0	0	0	0	0	1	8383	1078	38	1		1	KLHL3	5	136964110	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1681012	136964110	43951150	519	7541											
SLC23A1	9963	broad.mit.edu	37	chr5	138715412	138715412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaatagccatgatgtcacCacgggcatcggttcgtgcct	11	12	1	1	rs151281788	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:138715412C>T	uc003leh.2	-	8	977	c.880G>A	c.(880-882)GGT>AGT	p.G294S	SLC23A1_uc003leg.2_Missense_Mutation_p.G298S	NM_005847	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (nucleobase	294					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	ATGATGTCACCACGGGCATCG	0.592													T	138715412	C	T	138715412	3	4	8	1	0	0	0	0	1	0	0	0	14462	594	21	4	944	4	SLC23A1	5	138715412	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1751302	138715412	42199848	520	7542											
PSD2	84249	broad.mit.edu	37	chr5	139193288	139193288	+	Frame_Shift_Del	DEL	G	G	-													aagatggccctcagggcccaGggggggatgaggatgatgat							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:139193288delG	uc003leu.1	+	3	971	c.766delG	c.(766-768)GGGfs	p.G256fs		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	256					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGGGCCCAGGGGGGGATGA	0.587													-	139193288	G	-	139193288	7	5	8	1	0	1	0	1	0	0	0	0	12647	1000	35	0	772	0	PSD2	5	139193288	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	477876	139193288	41721972	521	7543											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139887448	139887448	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgcagtaaaattgctgctCgatatgggttcagacattaa	9	8	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:139887448C>T	uc003lfs.1	+	20	3754	c.3630C>T	c.(3628-3630)CTC>CTT	p.L1210L	ANKHD1_uc003lfq.1_Silent_p.L1229L|ANKHD1_uc003lfr.2_Silent_p.L1210L|ANKHD1_uc003lft.1_Silent_p.L421L|ANKHD1_uc003lfu.1_Silent_p.L690L|ANKHD1_uc003lfv.1_Silent_p.L287L|ANKHD1-EIF4EBP3_uc011czh.1_5'Flank|ANKHD1_uc003lfw.2_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1210						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTGCTGCTCGATATGGGTT	0.483													T	139887448	C	T	139887448	2	4	8	1	0	0	0	0	0	0	0	1	629	871	31	1		1	ANKHD1-EIF4EBP3	5	139887448	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	694160	139887448	41027812	522	7544											
PCDHA2	56146	broad.mit.edu	37	chr5	140176157	140176157	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcagttccaggtgagCgcgcgggatgcgggcgtgcc	18	12	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140176157C>T	uc003lhd.2	+	1	1714	c.1608C>T	c.(1606-1608)AGC>AGT	p.S536S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.S536S|PCDHA2_uc011czy.1_Silent_p.S536S	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	536	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGGTGAGCGCGCGGGATG	0.672													T	140176157	C	T	140176157	2	4	8	1	0	0	0	0	0	0	0	1	11524	767	27	1		1	PCDHA2	5	140176157	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	288709	140176157	40739103	523	7545											
PCDHA3	56145	broad.mit.edu	37	chr5	140181571	140181571	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggtaccctagtggtgacCgttaacgccaccgatttgga	11	10	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140181571C>T	uc003lhf.2	+	1	789	c.789C>T	c.(787-789)ACC>ACT	p.T263T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.T263T	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	263	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGTGGTGACCGTTAACGCCA	0.413													T	140181571	C	T	140181571	2	4	8	1	0	0	0	0	0	0	0	1	11525	639	23	1		1	PCDHA3	5	140181571	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	5414	140181571	40733689	524	7546											
PCDHA3	56145	broad.mit.edu	37	chr5	140182272	140182272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctactcgctggtggaacGgcgggtgggggagcgcgcgc	20	11	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140182272G>A	uc003lhf.2	+	1	1490	c.1490G>A	c.(1489-1491)CGG>CAG	p.R497Q	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.R497Q	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	497	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGAACGGCGGGTGGGG	0.682													A	140182272	G	A	140182272	3	1	8	1	0	0	0	0	1	0	0	0	11525	1116	39	1	1492	1	PCDHA3	5	140182272	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	701	140182272	40732988	525	7547											
PCDHA4	56144	broad.mit.edu	37	chr5	140186905	140186905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccaaacacggcaccttcGtgggccgcatcgcgcaggac	13	15	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140186905G>A	uc003lhi.2	+	1	234	c.133G>A	c.(133-135)GTG>ATG	p.V45M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.V45M|PCDHA4_uc011daa.1_Missense_Mutation_p.V45M	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	45	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCACCTTCGTGGGCCGCAT	0.672													A	140186905	G	A	140186905	3	1	8	1	0	0	0	0	1	0	0	0	11526	1145	40	1	135	1	PCDHA4	5	140186905	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4633	140186905	40728355	526	7548											
PCDHA4	56144	broad.mit.edu	37	chr5	140188263	140188263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctactcgctggtagagcgGcgggtaggggagcgcgcgct	18	11	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140188263G>A	uc003lhi.2	+	1	1592	c.1491G>A	c.(1489-1491)CGG>CGA	p.R497R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.R497R|PCDHA4_uc011daa.1_Silent_p.R497R	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	497	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTAGAGCGGCGGGTAGGGG	0.662													A	140188263	G	A	140188263	2	1	8	1	0	0	0	0	0	0	0	1	11526	1190	42	2		2	PCDHA4	5	140188263	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1358	140188263	40726997	527	7549											
PCDHA5	56143	broad.mit.edu	37	chr5	140203557	140203557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccgaggccgtgtgcacaCggggcaagcccactctgttg	13	15	1	0	rs140039635		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140203557C>T	uc003lhl.2	+	1	2197	c.2197C>T	c.(2197-2199)CGG>TGG	p.R733W	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.R733W|PCDHA5_uc003lhj.1_Missense_Mutation_p.R733W	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	733	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGTGCACACGGGGCAAGCC	0.662													T	140203557	C	T	140203557	3	4	8	1	0	0	0	0	1	0	0	0	11527	527	19	1	2199	1	PCDHA5	5	140203557	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	15294	140203557	40711703	528	7550											
PCDHA6	56142	broad.mit.edu	37	chr5	140209209	140209209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagctacatttcggtgcaCgcggagagcggcaaggtgta	15	9	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140209209C>T	uc003lho.2	+	1	1560	c.1533C>T	c.(1531-1533)CAC>CAT	p.H511H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.H511H|PCDHA6_uc011dab.1_Silent_p.H511H	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	511	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCGGTGCACGCGGAGAGCG	0.701													T	140209209	C	T	140209209	2	4	8	1	0	0	0	0	0	0	0	1	11528	535	19	1		1	PCDHA6	5	140209209	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	5652	140209209	40706051	529	7551											
PCDHA6	56142	broad.mit.edu	37	chr5	140209726	140209726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgtcatcacgggcgtcgGtgggcgccgcgggcccagag	19	13	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140209726G>A	uc003lho.2	+	1	2077	c.2050G>A	c.(2050-2052)GTG>ATG	p.V684M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.V684M	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	684	Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGGCGTCGGTGGGCGCCGC	0.667													A	140209726	G	A	140209726	3	1	8	1	0	0	0	0	1	0	0	0	11528	1261	44	4	2052	4	PCDHA6	5	140209726	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	517	140209726	40705534	530	7552											
PCDHAC2	56134	broad.mit.edu	37	chr5	140215405	140215405	+	Frame_Shift_Del	DEL	G	G	-													cacatcttcactgtgtcggcGggggacgcggacgcgcagaa							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140215404_140215404CG>C	uc003lhq.2	+	0	1436	c.1436_1436CG>C	c.(1435-1437)gcgfs	p.A479fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Frame_Shift_Del_p.A479fs	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	493	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGTGTCGGCGGGGGACGCG	0.677													-	140215405	G	-	140215405	7	5	8	1	0	1	0	1	0	0	0	0	11533	1103	39	0		0	PCDHAC2	5	140215405	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	5679	140215405	40699855	531	7553											
PCDHA13	56136	broad.mit.edu	37	chr5	140263605	140263605	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgagctgatgccgcggtcGgtgggtgcaggccacgtggt	19	10	0	1	rs61734917	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140263605G>A	uc003lif.2	+	1	1752	c.1752G>A	c.(1750-1752)TCG>TCA	p.S584S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.S584S|PCDHA13_uc003lid.2_Silent_p.S584S	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	584	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCGCGGTCGGTGGGTGCAG	0.687													A	140263605	G	A	140263605	2	1	8	1	0	0	0	0	0	0	0	1	11523	1103	39	1		1	PCDHA13	5	140263605	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	48200	140263605	40651655	532	7554											
PCDHA13	56136	broad.mit.edu	37	chr5	140264042	140264042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggcaccgcccaccgaggGcgcgtgcgcgccgggcaagc	16	18	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140264042G>A	uc003lif.2	+	1	2189	c.2189G>A	c.(2188-2190)GGC>GAC	p.G730D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.G730D|PCDHA13_uc003lid.2_Missense_Mutation_p.G730D	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	730	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCACCGAGGGCGCGTGCGCG	0.657													A	140264042	G	A	140264042	3	1	8	1	0	0	0	0	1	0	0	0	11523	1203	42	2	2191	2	PCDHA13	5	140264042	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	437	140264042	40651218	533	7555											
PCDHB11	56125	broad.mit.edu	37	chr5	140579471	140579471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagaagaaatgcagagcGggagttttgtaggcaatctg	15	5	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140579471G>A	uc003liy.2	+	1	124	c.124G>A	c.(124-126)GGG>AGG	p.G42R	PCDHB11_uc011daj.1_Intron	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	42	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGCAGAGCGGGAGTTTTGT	0.517													A	140579471	G	A	140579471	3	1	8	1	0	0	0	0	1	0	0	0	11536	1116	39	1	126	1	PCDHB11	5	140579471	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	315429	140579471	40335789	534	7556											
PCDHB11	56125	broad.mit.edu	37	chr5	140580614	140580614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacaatatcaccatcaccGtcaccgacttggggataccc	7	14	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140580614G>A	uc003liy.2	+	1	1267	c.1267G>A	c.(1267-1269)GTC>ATC	p.V423I	PCDHB11_uc011daj.1_Missense_Mutation_p.V58I	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	423	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCATCACCGTCACCGACTT	0.502													A	140580614	G	A	140580614	3	1	8	1	0	0	0	0	1	0	0	0	11536	1145	40	1	1269	1	PCDHB11	5	140580614	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1143	140580614	40334646	535	7557											
TAF7	6879	broad.mit.edu	37	chr5	140698866	140698866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctctccagatcttcctccGtgtcaatgatgtttatatct	6	11	4	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140698866G>A	uc003ljg.2	-	1	1486	c.746C>T	c.(745-747)ACG>ATG	p.T249M		NM_005642	NP_005633	Q15545	TAF7_HUMAN	TATA box-binding protein-associated factor 2F	249	Potential.				negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTTCCTCCGTGTCAATGAT	0.443													A	140698866	G	A	140698866	3	1	8	1	0	0	0	0	1	0	0	0	15529	1145	40	1	307	1	TAF7	5	140698866	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	118252	140698866	40216394	536	7558											
TAF7	6879	broad.mit.edu	37	chr5	140699557	140699557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatattctggaggcagacGtaagataaactggctctcca	11	9	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140699557G>A	uc003ljg.2	-	1	795	c.55C>T	c.(55-57)CGT>TGT	p.R19C		NM_005642	NP_005633	Q15545	TAF7_HUMAN	TATA box-binding protein-associated factor 2F	19					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGCAGACGTAAGATAAAC	0.443											OREG0016852	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	140699557	G	A	140699557	3	1	8	1	0	0	0	0	1	0	0	0	15529	1145	40	1	998	1	TAF7	5	140699557	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	691	140699557	40215703	537	7559											
PCDHGA5	56110	broad.mit.edu	37	chr5	140745350	140745350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccgacagcggcgacaacGctcgagtcacctactccctg	9	18	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140745350G>A	uc003lju.1	+	1	1453	c.1453G>A	c.(1453-1455)GCT>ACT	p.A485T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.A485T	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	485	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGACAACGCTCGAGTCAC	0.542													A	140745350	G	A	140745350	3	1	8	1	0	0	0	0	1	0	0	0	11557	1087	38	1	1455	1	PCDHGA5	5	140745350	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	45793	140745350	40169910	538	7560											
PCDHGA6	56109	broad.mit.edu	37	chr5	140754322	140754322	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgaccctgtccgctcaagCgtcgcccaaattctggtaac	10	15	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140754322C>T	uc003ljy.1	+	1	672	c.672C>T	c.(670-672)AGC>AGT	p.S224S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.S224S	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	224	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCTCAAGCGTCGCCCAAA	0.552													T	140754322	C	T	140754322	2	4	8	1	0	0	0	0	0	0	0	1	11558	767	27	1		1	PCDHGA6	5	140754322	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	8972	140754322	40160938	539	7561											
GNPDA1	10007	broad.mit.edu	37	chr5	141385882	141385882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtaactctccgggtggtctCgaggaaggcctgtggggccg	18	10	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:141385882C>T	uc003lmf.3	-	3	995	c.236G>A	c.(235-237)CGA>CAA	p.R79Q	GNPDA1_uc003lmg.3_Missense_Mutation_p.R79Q|GNPDA1_uc010jgh.2_Missense_Mutation_p.R79Q|GNPDA1_uc003lmh.3_Missense_Mutation_p.R45Q	NM_005471	NP_005462	P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	79					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity				0		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGTGGTCTCGAGGAAGGCC	0.542													T	141385882	C	T	141385882	3	4	8	1	0	0	0	0	1	0	0	0	6542	884	31	1	649	1	GNPDA1	5	141385882	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	631560	141385882	39529378	540	7562											
TCERG1	10915	broad.mit.edu	37	chr5	145883505	145883506	+	Frame_Shift_Ins	INS	-	-	GA													caaacaaaagaaatagatcgINSagagagagagcagcacaaac							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:145883504_145883505C>CGA	uc003lob.3	+	17	2705_2706	c.2665_2666C>CGA	c.(2665-2667)cgafs	p.R889fs	TCERG1_uc003loc.3_Frame_Shift_Ins_p.R868fs	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	889					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAAATAGATCGAGAGAGAGAG	0.416													GA	145883506	-	GA	145883505	7	5	8	1	0	1	1	0	0	0	0	0	15682	1058	37	0	2736	0	TCERG1	5	145883505	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	4497623	145883505	35031755	541	7563											
SLC6A7	6534	broad.mit.edu	37	chr5	149581961	149581961	+	Frame_Shift_Del	DEL	G	G	-													attccctgggtgtgggcttcGgggggctcctcacctttgcc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:149581960_149581960CG>C	uc003lrr.3	+	6	1280	c.909_909CG>C	c.(907-909)ttcfs	p.F303fs		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA.	303						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTGTGGGCTTCGGGGGGCTCC	0.572													-	149581961	G	-	149581961	7	5	8	1	0	1	0	1	0	0	0	0	14689	1116	39	0	936	0	SLC6A7	5	149581961	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	3698456	149581961	31333299	542	7564											
MYOZ3	91977	broad.mit.edu	37	chr5	150056388	150056388	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctcagacccagcttcaacaGagtggcccagggctgggtcc	12	14	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:150056388G>A	uc003lss.2	+	7	1294	c.707G>A	c.(706-708)AGA>AAA	p.R236K	MYOZ3_uc003lsr.2_Missense_Mutation_p.R236K	NM_001122853	NP_001116325	Q8TDC0	MYOZ3_HUMAN	myozenin 3	236						sarcomere	protein binding			skin(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCTTCAACAGAGTGGCCCAG	0.642													A	150056388	G	A	150056388	3	1	8	1	0	0	0	0	1	0	0	0	10097	942	33	4	729	4	MYOZ3	5	150056388	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	474427	150056388	30858872	543	7565											
FAT2	2196	broad.mit.edu	37	chr5	150948214	150948214	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtccttattcttaggaaGcagaagttgcccaccacata	7	10	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:150948214G>A	uc003lue.3	-	1	292	c.279C>T	c.(277-279)TGC>TGT	p.C93C	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.C93C	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	93	Extracellular (Potential).|Cadherin 1.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTTAGGAAGCAGAAGTTGC	0.512													A	150948214	G	A	150948214	2	1	8	1	0	0	0	0	0	0	0	1	5690	963	34	2		2	FAT2	5	150948214	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	891826	150948214	29967046	544	7566											
G3BP1	10146	broad.mit.edu	37	chr5	151170562	151170562	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtccaggtgatggggcTtctctctaacaacaaccagg	12	10	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:151170562T>A	uc003lun.2	+	4	461	c.290T>A	c.(289-291)CTT>CAT	p.L97H	G3BP1_uc010jhy.1_Missense_Mutation_p.L97H|G3BP1_uc003lum.2_Missense_Mutation_p.L97H|G3BP1_uc011dcu.1_5'UTR|G3BP1_uc010jhz.2_5'UTR	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	97	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GTGATGGGGCTTCTCTCTAAC	0.443													A	151170562	T	A	151170562	3	1	8	1	0	0	0	0	1	0	0	0	6141	1609	56	5	300	5	G3BP1	5	151170562	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	222348	151170562	29744698	545	7567											
GRIA1	2890	broad.mit.edu	37	chr5	153190682	153190682	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agccagcagcggcggcagtgGagagaatggtcgggtggtca	19	8	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:153190682G>T	uc003lva.3	+	16	2983	c.2618G>T	c.(2617-2619)GGA>GTA	p.G873V	GRIA1_uc003luy.3_Missense_Mutation_p.G873V|GRIA1_uc003luz.3_Missense_Mutation_p.G778V|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.G793V|GRIA1_uc011dcx.1_Missense_Mutation_p.G804V|GRIA1_uc011dcy.1_Missense_Mutation_p.G883V|GRIA1_uc011dcz.1_Missense_Mutation_p.G883V	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	873	Cytoplasmic (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGCGGCAGTGGAGAGAATGGT	0.582													T	153190682	G	T	153190682	3	4	8	1	0	0	0	0	1	0	0	0	6767	1174	41	5	2799	5	GRIA1	5	153190682	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2020120	153190682	27724578	546	7568											
ADAM19	8728	broad.mit.edu	37	chr5	156920119	156920119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatagtggtgtcaatgggCaccgcgttggactccagggg	16	8	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:156920119C>T	uc003lwz.2	-	16	1834	c.1770G>A	c.(1768-1770)GTG>GTA	p.V590V	ADAM19_uc003lww.1_Silent_p.V323V|ADAM19_uc003lwy.2_Silent_p.V189V|ADAM19_uc011ddr.1_Silent_p.V521V	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	590	Extracellular (Potential).|Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTCAATGGGCACCGCGTTGG	0.607													T	156920119	C	T	156920119	2	4	8	1	0	0	0	0	0	0	0	1	240	697	25	2		2	ADAM19	5	156920119	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	3729437	156920119	23995141	547	7569											
PWWP2A	114825	broad.mit.edu	37	chr5	159520656	159520656	+	Frame_Shift_Del	DEL	T	T	-													tactaccttttctaatttccTttttttcagcaacaacactg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:159520655_159520655CT>C	uc011ded.2	-	1	1059	c.1002_1002AG>G	c.(1000-1002)aagfs	p.K334fs	PWWP2A_uc003lxv.4_Frame_Shift_Del_p.K334fs|PWWP2A_uc011dec.2_Frame_Shift_Del_p.K334fs	NM_001130864	NP_001124336	Q96N64	PWP2A_HUMAN	Homo sapiens PWWP domain containing 2A (PWWP2A), transcript variant 2, mRNA.	334										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTAATTTCCTTTTTTTCAG	0.338													-	159520656	T	-	159520656	7	5	8	1	0	1	0	1	0	0	0	0	12845	1609	56	0	1412	0	PWWP2A	5	159520656	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	2600537	159520656	21394604	548	7570											
ATP10B	23120	broad.mit.edu	37	chr5	160113246	160113246	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggagggcatccagttcaAaatcaccaggaacaggaaat	10	9	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:160113246A>G	uc003lym.1	-	6	1157	c.310T>C	c.(310-312)TTG>CTG	p.L104L	ATP10B_uc003lyp.2_Silent_p.L104L|ATP10B_uc011deg.1_Silent_p.L148L|ATP10B_uc003lyo.2_5'Flank	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	104	Helical; (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCAGTTCAAAATCACCAGG	0.458													G	160113246	A	G	160113246	2	3	8	1	0	0	0	0	0	0	0	1	1117	11	1	3		3	ATP10B	5	160113246	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	592590	160113246	20802014	549	7571											
GABRB2	2561	broad.mit.edu	37	chr5	160721153	160721153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccactgggaagaatatgcGggaccaccgatctatggcat	11	10	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:160721153G>A	uc003lys.1	-	11	1692	c.1474C>T	c.(1474-1476)CGC>TGC	p.R492C	GABRB2_uc011deh.1_Missense_Mutation_p.R293C|GABRB2_uc003lyr.1_Missense_Mutation_p.R454C|GABRB2_uc003lyt.1_Missense_Mutation_p.R454C|GABRB2_uc010jiu.1_Missense_Mutation_p.R391C	NM_021911	NP_068711	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	492	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity				0	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAGAATATGCGGGACCACCGA	0.468													A	160721153	G	A	160721153	3	1	8	1	0	0	0	0	1	0	0	0	6167	1116	39	1	68	1	GABRB2	5	160721153	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	607907	160721153	20194107	550	7572											
GABRG2	2566	broad.mit.edu	37	chr5	161520894	161520894	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcttctaacaaaacatgggtCttgactccaaaagttcctga	7	10	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:161520894C>A	uc003lyz.3	+	2	526	c.168C>A	c.(166-168)GTC>GTA	p.V56V	GABRG2_uc010jjc.2_Silent_p.V56V|GABRG2_uc003lyy.3_Silent_p.V56V|GABRG2_uc011dej.1_5'UTR	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	56	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AAACATGGGTCTTGACTCCAA	0.368													A	161520894	C	A	161520894	2	1	8	1	0	0	0	0	0	0	0	1	6172	900	32	5		5	GABRG2	5	161520894	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	799741	161520894	19394366	551	7573											
LCP2	3937	broad.mit.edu	37	chr5	169689854	169689854	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacagtcttaccttcccgcTggaatcgagggctgcaagac	10	13	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:169689854T>C	uc003man.1	-	12	1017	c.810A>G	c.(808-810)CCA>CCG	p.P270P	LCP2_uc011des.1_Silent_p.P65P|LCP2_uc011det.1_Silent_p.P99P|LCP2_uc010jjo.1_Silent_p.P77P	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	270					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		ACCTTCCCGCTGGAATCGAGG	0.428													C	169689854	T	C	169689854	2	2	8	1	0	0	0	0	0	0	0	1	8692	1567	55	3		3	LCP2	5	169689854	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	8168960	169689854	11225406	552	7574											
NKX2-5	1482	broad.mit.edu	37	chr5	172659583	172659583	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccttccctaccaggctcGgataccatgcagcgtggaca	10	15	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:172659583G>A	uc003mcm.1	-	2	1140	c.964C>T	c.(964-966)CGA>TGA	p.R322*		NM_004387	NP_004378	P52952	NKX25_HUMAN	NK2 transcription factor related, locus 5	322			R -> Q (in ASD-AVCD; somatic mutation).		adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TACCAGGCTCGGATACCATGC	0.627													A	172659583	G	A	172659583	4	1	8	1	0	0	0	0	0	1	0	0	10453	1124	39	1	14	1	NKX2-5	5	172659583	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2969729	172659583	8255677	553	7575											
HMP19	51617	broad.mit.edu	37	chr5	173534316	173534316	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtctctttcttccccaGcacaaacgctgtatcccagc	5	17	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:173534316G>A	uc003mcx.2	+	5	470	c.325_splice	c.e5-1	p.H109_splice	HMP19_uc011dfh.1_Splice_Site_p.S12_splice	NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	HMP19 protein						dopamine receptor signaling pathway	cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTCTTCCCCAGCACAAACGCT	0.572													A	173534316	G	A	173534316	5	1	8	1	0	0	0	0	0	0	1	0	7245	985	34	2	338	2	HMP19	5	173534316	Splice_Site	SNP	G	TCGA-BR-4201-01A-01D-1126-08	874733	173534316	7380944	554	7576											
UNC5A	90249	broad.mit.edu	37	chr5	176297387	176297387	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagtggacggcagctggagCccgtggagcaagtggtcggc	18	10	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:176297387C>T	uc003mey.2	+	6	930	c.738C>T	c.(736-738)AGC>AGT	p.S246S	UNC5A_uc003mex.1_Silent_p.S246S|UNC5A_uc010jkg.1_Silent_p.S206S	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	246	TSP type-1.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCTGGAGCCCGTGGAGCA	0.687													T	176297387	C	T	176297387	2	4	8	1	0	0	0	0	0	0	0	1	16988	738	26	2		2	UNC5A	5	176297387	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2763071	176297387	4617873	555	7577											
HK3	3101	broad.mit.edu	37	chr5	176314232	176314232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccctgggccacagtctcGggaatggagtagatctcgct	13	11	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:176314232G>A	uc003mfa.2	-	12	1799	c.1707C>T	c.(1705-1707)CCC>CCT	p.P569P	HK3_uc003mez.2_Silent_p.P125P	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	569	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACAGTCTCGGGAATGGAGT	0.617													A	176314232	G	A	176314232	2	1	8	1	0	0	0	0	0	0	0	1	7192	1103	39	1		1	HK3	5	176314232	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	16845	176314232	4601028	556	7578											
NSD1	64324	broad.mit.edu	37	chr5	176678848	176678848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatttatctgcaatgaatgtCgcacaggtaaagtagatatc	8	6	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:176678848C>T	uc003mfr.3	+	12	4897	c.4759C>T	c.(4759-4761)CGC>TGC	p.R1587C	NSD1_uc003mft.3_Missense_Mutation_p.R1318C|NSD1_uc003mfs.1_Missense_Mutation_p.R1484C|NSD1_uc011dfx.1_Missense_Mutation_p.R1235C	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1587	PHD-type 1.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAATGAATGTCGCACAGGTAA	0.423			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			T	176678848	C	T	176678848	3	4	8	1	0	0	0	0	1	0	0	0	10669	884	31	1	4801	1	NSD1	5	176678848	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	364616	176678848	4236412	557	7579											
NSD1	64324	broad.mit.edu	37	chr5	176721549	176721549	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccgccagacagactgctcAttactagcagtcccaaaccc	7	17	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:176721549A>G	uc003mfr.3	+	23	7318	c.7180A>G	c.(7180-7182)ATT>GTT	p.I2394V	NSD1_uc003mft.3_Missense_Mutation_p.I2125V|NSD1_uc011dfx.1_Missense_Mutation_p.I2042V	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2394	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAGACTGCTCATTACTAGCAG	0.552			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			G	176721549	A	G	176721549	3	3	8	1	0	0	0	0	1	0	0	0	10669	217	8	3	7266	3	NSD1	5	176721549	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	42701	176721549	4193711	558	7580											
GRK6	2870	broad.mit.edu	37	chr5	176860178	176860178	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtacctgagcgtggccccTtttgccgactacctcgacag	11	14	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:176860178T>C	uc011dfz.1	+	6	631	c.471T>C	c.(469-471)CCT>CCC	p.P157P	GRK6_uc003mgp.2_Silent_p.P157P|GRK6_uc003mgq.2_Silent_p.P157P|GRK6_uc003mgs.1_Silent_p.P127P	NM_002082	NP_002073	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6 isoform B	157	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)|stomach(1)|breast(1)	3	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGTGGCCCCTTTTGCCGACT	0.627													C	176860178	T	C	176860178	2	2	8	1	0	0	0	0	0	0	0	1	6793	1596	56	3		3	GRK6	5	176860178	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	138629	176860178	4055082	559	7581											
BTNL9	153579	broad.mit.edu	37	chr5	180475169	180475169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcctatggcagcgtggtcCtgcagcttcacagcatcatc	10	14	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:180475169C>T	uc003mmt.2	+	3	583	c.352C>T	c.(352-354)CTG>TTG	p.L118L	BTNL9_uc011dhi.1_Silent_p.L49L	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9 precursor	118	Extracellular (Potential).|Ig-like V-type.					integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(89;2.45e-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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCGTGGTCCTGCAGCTTCA	0.602													T	180475169	C	T	180475169	2	4	8	1	0	0	0	0	0	0	0	1	1568	680	24	4		4	BTNL9	5	180475169	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	3614991	180475169	440091	560	7582											
CDYL	9425	broad.mit.edu	37	chr6	4935952	4935952	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaagcaggatggcttcAcccacatcttgttatccaca	8	12	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:4935952A>G	uc003mwi.2	+	5	1188	c.1057A>G	c.(1057-1059)ACC>GCC	p.T353A	CDYL_uc003mwj.2_Missense_Mutation_p.T299A|CDYL_uc003mwk.2_Missense_Mutation_p.T64A|CDYL_uc011dhx.1_Missense_Mutation_p.T167A|CDYL_uc011dhy.1_Missense_Mutation_p.T167A	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	353					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GGATGGCTTCACCCACATCTT	0.512													G	4935952	A	G	4935952	3	3	8	1	0	0	0	0	1	0	0	0	3185	159	6	3	905	3	CDYL	6	4935952	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08		4935952	166179115	561	7583											
F13A1	2162	broad.mit.edu	37	chr6	6197549	6197549	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catccatgcttcattccagcAgtggtagttccttagaaaac	7	11	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:6197549A>G	uc003mwv.2	-	9	1246	c.1123T>C	c.(1123-1125)TGC>CGC	p.C375R	F13A1_uc011dib.1_Missense_Mutation_p.C312R	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	375					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCATTCCAGCAGTGGTAGTTC	0.443													G	6197549	A	G	6197549	3	3	8	1	0	0	0	0	1	0	0	0	5340	188	7	3	1103	3	F13A1	6	6197549	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1261597	6197549	164917518	562	7584											
EDN1	1906	broad.mit.edu	37	chr6	12294303	12294303	+	Frame_Shift_Del	DEL	T	T	-													aaagacaagaagtgctggaaTttttgccaagcaggaaaaga							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:12294302_12294302AT>A	uc003nae.4	+	2	696	c.362_362AT>A	c.(361-363)aatfs	p.N121fs	EDN1_uc003nad.3_Frame_Shift_Del_p.N121fs|EDN1_uc003naf.4_Frame_Shift_Del_p.N120fs	NM_001955	NP_001946	P05305	EDN1_HUMAN	Homo sapiens endothelin 1 (EDN1), transcript variant 1, mRNA.	121	Endothelin-like.				artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of JUN kinase activity|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				AAGTGCTGGAATTTTTGCCAA	0.443													-	12294303	T	-	12294303	7	5	8	1	0	1	0	1	0	0	0	0	4916	1490	52	0	373	0	EDN1	6	12294303	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	6096754	12294303	158820764	563	7585											
MYLIP	29116	broad.mit.edu	37	chr6	16143371	16143371	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcattctgtgcgggatagCgaagggcagaaactgctcat	14	8	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:16143371C>T	uc003nbq.2	+	4	822	c.585C>T	c.(583-585)AGC>AGT	p.S195S	MYLIP_uc003nbr.2_Silent_p.S14S	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting	195	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			pancreas(1)	1	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			TGCGGGATAGCGAAGGGCAGA	0.443													T	16143371	C	T	16143371	2	4	8	1	0	0	0	0	0	0	0	1	10055	767	27	1		1	MYLIP	6	16143371	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	3849068	16143371	154971696	564	7586											
ATXN1	6310	broad.mit.edu	37	chr6	16307055	16307055	+	Frame_Shift_Del	DEL	A	A	-													gaccagccctgtccaaacacAaaaaaaggatactctaccaa							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:16307054_16307054CA>C	uc003nbt.3	-	8	2925	c.1954_1954TG>G	c.(1954-1956)gtgfs	p.V652fs	ATXN1_uc010jpi.3_Frame_Shift_Del_p.V652fs|ATXN1_uc010jpj.1_Non-coding_Transcript	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	652	AXH.|Interaction with USP7.|RNA-binding.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TGTCCAAACACAAAAAAAGGA	0.468													-	16307055	A	-	16307055	7	5	8	1	0	1	0	1	0	0	0	0	1209	127	5	0	498	0	ATXN1	6	16307055	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	163684	16307055	154808012	565	7587											
ATXN1	6310	broad.mit.edu	37	chr6	16328093	16328093	+	Frame_Shift_Del	DEL	G	G	-													tggtgacggggttggcggttGgggggatcagctgtgatggg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:16328092_16328092TG>T	uc003nbt.3	-	7	1421	c.450_450CA>A	c.(448-450)ccafs	p.P150fs	ATXN1_uc010jpi.3_Frame_Shift_Del_p.P150fs|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	150					RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGTTGGCGGTTGGGGGGATCA	0.627													-	16328093	G	-	16328093	7	5	8	1	0	1	0	1	0	0	0	0	1209	1348	47	0	2006	0	ATXN1	6	16328093	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	21038	16328093	154786974	566	7588											
KIF13A	63971	broad.mit.edu	37	chr6	17837152	17837152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtttctcgacttcctccCgcagttctcggatcactttt	6	14	4	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:17837152C>T	uc003ncg.3	-	11	1217	c.1112G>A	c.(1111-1113)CGG>CAG	p.R371Q	KIF13A_uc003ncf.2_Missense_Mutation_p.R371Q|KIF13A_uc003nch.3_Missense_Mutation_p.R371Q|KIF13A_uc003nci.3_Missense_Mutation_p.R371Q|KIF13A_uc003ncj.2_Missense_Mutation_p.R47Q	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	371	Potential.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GACTTCCTCCCGCAGTTCTCG	0.517													T	17837152	C	T	17837152	3	4	8	1	0	0	0	0	1	0	0	0	8274	652	23	1	4446	1	KIF13A	6	17837152	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1509059	17837152	153277915	567	7589											
E2F3	1871	broad.mit.edu	37	chr6	20481645	20481645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagaagtctaaaaacaaCgtccaatggatgtgagtagg	11	5	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:20481645C>T	uc003nda.2	+	3	1041	c.714C>T	c.(712-714)AAC>AAT	p.N238N	E2F3_uc003ncz.2_Silent_p.N232N	NM_001949	NP_001940	O00716	E2F3_HUMAN	E2F transcription factor 3	238	Potential.|DEF box.				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CTAAAAACAACGTCCAATGGA	0.478													T	20481645	C	T	20481645	2	4	8	1	0	0	0	0	0	0	0	1	4868	535	19	1		1	E2F3	6	20481645	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2644493	20481645	150633422	568	7590											
TDP2	51567	broad.mit.edu	37	chr6	24653309	24653309	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttttaactgattcattcGttccgcagcatgccctctgg	7	12	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:24653309G>A	uc003nej.2	-	6	734	c.709C>T	c.(709-711)CGA>TGA	p.R237*	TDP2_uc003nei.2_Nonsense_Mutation_p.R125*|TDP2_uc010jpu.1_Nonsense_Mutation_p.R237*	NM_016614	NP_057698	O95551	TYDP2_HUMAN	TRAF and TNF receptor-associated protein	237					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			ovary(1)|lung(1)	2						TGATTCATTCGTTCCGCAGCA	0.433								Direct_reversal_of_damage|Editing_and_processing_nucleases					A	24653309	G	A	24653309	4	1	8	1	0	0	0	0	0	1	0	0	15726	1153	40	1	387	1	TDP2	6	24653309	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4171664	24653309	146461758	569	7591											
LRRC16A	55604	broad.mit.edu	37	chr6	25600624	25600624	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgagattctcggaaaagtAgtggctttctcaatttaatc	9	7	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:25600624A>G	uc011djw.1	+	33	3578	c.3202A>G	c.(3202-3204)AGT>GGT	p.S1068G	LRRC16A_uc010jpx.2_Missense_Mutation_p.S1068G|LRRC16A_uc010jpy.2_Missense_Mutation_p.S1068G	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1068	Inhibits capping activity of CAPZA2 (By similarity).				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						TCGGAAAAGTAGTGGCTTTCT	0.453													G	25600624	A	G	25600624	3	3	8	1	0	0	0	0	1	0	0	0	8971	420	15	3	3332	3	LRRC16A	6	25600624	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	947315	25600624	145514443	570	7592											
HIST1H2BL	8340	broad.mit.edu	37	chr6	27775557	27775557	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacctgcttcagcaccttgTacacgtacacggagtagctc	10	13	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:27775557T>C	uc003njl.2	-	1	153	c.128A>G	c.(127-129)TAC>TGC	p.Y43C	HIST1H3H_uc003njm.2_5'Flank	NM_003519	NP_003510	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	43					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CAGCACCTTGTACACGTACAC	0.582													C	27775557	T	C	27775557	3	2	8	1	0	0	0	0	1	0	0	0	7151	1638	57	3	256	3	HIST1H2BL	6	27775557	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	2174933	27775557	143339510	571	7593											
HIST1H2BN	8341	broad.mit.edu	37	chr6	27806599	27806599	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcaggtccaccccgacaccGgtatctcgtccaaggccatg	10	16	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:27806599G>T	uc003njv.2	+	1	160	c.160G>T	c.(160-162)GGT>TGT	p.G54C	HIST1H2AK_uc003njs.2_5'Flank|HIST1H2BN_uc003njt.1_RNA|HIST1H2BN_uc003nju.1_Missense_Mutation_p.G54C	NM_003520	NP_003511	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	54					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CCCCGACACCGGTATCTCGTC	0.592													T	27806599	G	T	27806599	3	4	8	1	0	0	0	0	1	0	0	0	7153	1116	39	5	162	5	HIST1H2BN	6	27806599	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	31042	27806599	143308468	572	7594											
OR2B6	26212	broad.mit.edu	37	chr6	27925691	27925691	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgcttttattgtccgagcaGtattgaggatacagtctgct	10	7	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:27925691G>C	uc011dkx.1	+	1	673	c.673G>C	c.(673-675)GTA>CTA	p.V225L		NM_012367	NP_036499	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B,	225	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TGTCCGAGCAGTATTGAGGAT	0.423													C	27925691	G	C	27925691	3	2	8	1	0	0	0	0	1	0	0	0	10991	1029	36	5	675	5	OR2B6	6	27925691	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	119092	27925691	143189376	573	7595											
TRIM15	89870	broad.mit.edu	37	chr6	30139991	30139991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagagtcgccctggactaCgaggcggggcaggtgaccct	17	11	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:30139991C>T	uc010jrx.2	+	7	1742	c.1263C>T	c.(1261-1263)TAC>TAT	p.Y421Y		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	tripartite motif protein 15	421	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding				0						CCCTGGACTACGAGGCGGGGC	0.652													T	30139991	C	T	30139991	2	4	8	1	0	0	0	0	0	0	0	1	16487	547	19	1		1	TRIM15	6	30139991	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2214300	30139991	140975076	574	7596											
C6orf136	221545	broad.mit.edu	37	chr6	30617500	30617500	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccctcagatccaggccctcAgctcagcatgggtggttctc	10	15	4	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:30617500A>G	uc003nqw.3	+	2	431	c.238A>G	c.(238-240)AGC>GGC	p.S80G	C6orf136_uc003nqx.3_Missense_Mutation_p.S261G|C6orf136_uc011dmn.1_Intron	NM_001109938	NP_001103408	Q5SQH8	CF136_HUMAN	hypothetical protein LOC221545 isoform 1	80											0						CCAGGCCCTCAGCTCAGCATG	0.617													G	30617500	A	G	30617500	3	3	8	1	0	0	0	0	1	0	0	0	2331	188	7	3	787	3	C6orf136	6	30617500	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	477509	30617500	140497567	575	7597											
LTA	4049	broad.mit.edu	37	chr6	31541102	31541102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctctggagagcaaacacgGaccgtgccttcctccaggat	11	13	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:31541102G>A	uc011dnu.1	+	4	463	c.250G>A	c.(250-252)GAC>AAC	p.D84N	LTA_uc003nue.1_Missense_Mutation_p.D84N|LTA_uc003nuf.2_Intron|LTA_uc003nuh.2_Missense_Mutation_p.D31N|LTA_uc003nug.2_Missense_Mutation_p.D31N|LTA_uc010jsr.2_Intron|TNF_uc003nui.2_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	lymphotoxin alpha precursor	84					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding				0					Etanercept(DB00005)	AGCAAACACGGACCGTGCCTT	0.567													A	31541102	G	A	31541102	3	1	8	1	0	0	0	0	1	0	0	0	9068	1174	41	4	260	4	LTA	6	31541102	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	923602	31541102	139573965	576	7598											
BAT2	7916	broad.mit.edu	37	chr6	31593069	31593069	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgaacagtcgtctgggccCggaccaagcctccgccccca	11	19	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:31593069C>T	uc003nvb.3	+	6	834	c.585C>T	c.(583-585)CCC>CCT	p.P195P	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Silent_p.P195P|BAT2_uc003nve.2_Silent_p.P58P	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	195	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						CGTCTGGGCCCGGACCAAGCC	0.582													T	31593069	C	T	31593069	2	4	8	1	0	0	0	0	0	0	0	1	1319	639	23	1		1	BAT2	6	31593069	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	51967	31593069	139521998	577	7599											
C6orf47	57827	broad.mit.edu	37	chr6	31627518	31627518	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttgcttggttcggaagcAgccccagaaaccctcaatgc	9	14	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:31627518A>G	uc003nvm.1	-	1	1032	c.207T>C	c.(205-207)GCT>GCC	p.A69A		NM_021184	NP_067007	O95873	CF047_HUMAN	G4 protein	69										ovary(1)	1						GTTCGGAAGCAGCCCCAGAAA	0.542													G	31627518	A	G	31627518	2	3	8	1	0	0	0	0	0	0	0	1	2364	175	7	3		3	C6orf47	6	31627518	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	34449	31627518	139487549	578	7600											
VARS	7407	broad.mit.edu	37	chr6	31760564	31760564	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agagagaggcctggctcctgAgtatagaaccacttctccta	10	11	1	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:31760564A>T	uc003nxe.2	-	4	1054	c.631T>A	c.(631-633)TCA>ACA	p.S211T	VARS_uc011doi.1_RNA	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	211	GST C-terminal.				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	CTGGCTCCTGAGTATAGAACC	0.567													T	31760564	A	T	31760564	3	4	8	1	0	0	0	0	1	0	0	0	17120	304	11	5	3271	5	VARS	6	31760564	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	133046	31760564	139354503	579	7601											
SLC44A4	80736	broad.mit.edu	37	chr6	31838664	31838664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccagctgggagatggaggCgcccttgtcccgcagcactc	13	15	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:31838664C>T	uc010jti.2	-	10	928	c.862G>A	c.(862-864)GCC>ACC	p.A288T	SLC44A4_uc011dol.1_Missense_Mutation_p.A212T|SLC44A4_uc011dom.1_Missense_Mutation_p.A246T	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	288	Extracellular (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)	GAGATGGAGGCGCCCTTGTCC	0.657													T	31838664	C	T	31838664	3	4	8	1	0	0	0	0	1	0	0	0	14638	768	27	1	1318	1	SLC44A4	6	31838664	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	78100	31838664	139276403	580	7602											
EHMT2	10919	broad.mit.edu	37	chr6	31852688	31852688	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaccaaacgctcactcaCgttgtcagtgagggtgacgt	10	12	4	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:31852688C>T	uc003nxz.1	-	19	2458	c.2448_splice	c.e19+1	p.N816_splice	EHMT2_uc003nxv.1_5'Flank|EHMT2_uc003nxw.1_5'Flank|EHMT2_uc003nxx.1_Intron|EHMT2_uc003nxy.1_Missense_Mutation_p.V608M|EHMT2_uc011don.1_Splice_Site_p.N839_splice|EHMT2_uc003nya.1_Splice_Site_p.N782_splice	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2						DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						CGCTCACTCACGTTGTCAGTG	0.637													T	31852688	C	T	31852688	5	4	8	1	0	0	0	0	0	0	1	0	4984	550	19	1	1223	1	EHMT2	6	31852688	Splice_Site	SNP	C	TCGA-BR-4201-01A-01D-1126-08	14024	31852688	139262379	581	7603											
STK19	8859	broad.mit.edu	37	chr6	31939920	31939920	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctccacgccgccaacgagtCcccgggcgtgcgtgcccttg	12	19	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:31939920C>T	uc003nyv.2	+	1	275	c.147C>T	c.(145-147)GTC>GTT	p.V49V	DOM3Z_uc003nyo.1_5'UTR|DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_5'UTR|DOM3Z_uc003nys.1_5'Flank|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.2_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.1_Silent_p.V49V|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.2_Silent_p.V49V|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	serine/threonine kinase 19 isoform 2	49						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(4)	4						GCCAACGAGTCCCCGGGCGTG	0.731													T	31939920	C	T	31939920	2	4	8	1	0	0	0	0	0	0	0	1	15291	842	30	4		4	STK19	6	31939920	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	87232	31939920	139175147	582	7604											
TNXB	7148	broad.mit.edu	37	chr6	32039796	32039796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccacagagactgggctgCgtcgtttcccatcctggatc	10	15	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:32039796C>T	uc003nzl.2	-	13	5163	c.4961G>A	c.(4960-4962)CGC>CAC	p.R1654H		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1736	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GACTGGGCTGCGTCGTTTCCC	0.607													T	32039796	C	T	32039796	3	4	8	1	0	0	0	0	1	0	0	0	16343	768	27	1	9880	1	TNXB	6	32039796	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	99876	32039796	139075271	583	7605											
TNXB	7148	broad.mit.edu	37	chr6	32039876	32039876	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagggatagtgacctcccgCtgatctgcagccacgggcac	12	14	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:32039876C>A	uc003nzl.2	-	13	5083	c.4881G>T	c.(4879-4881)CAG>CAT	p.Q1627H		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1709	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						TGACCTCCCGCTGATCTGCAG	0.597													A	32039876	C	A	32039876	3	1	8	1	0	0	0	0	1	0	0	0	16343	796	28	5	9960	5	TNXB	6	32039876	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	80	32039876	139075191	584	7606											
TNXB	7148	broad.mit.edu	37	chr6	32065871	32065871	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggagggggccggggggcTggcagtgtcacattggaccg	22	8	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:32065871T>C	uc003nzl.2	-	2	307	c.105A>G	c.(103-105)CCA>CCG	p.P35P	TNXB_uc010jts.1_Silent_p.P34P|ATF6B_uc003nzm.1_3'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	35					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GCCGGGGGGCTGGCAGTGTCA	0.642													C	32065871	T	C	32065871	2	2	8	1	0	0	0	0	0	0	0	1	16343	1567	55	3		3	TNXB	6	32065871	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	25995	32065871	139049196	585	7607											
PPT2	9374	broad.mit.edu	37	chr6	32123717	32123717	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctatcggatctgctatagccCctggggccaggaattctcca	10	13	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:32123717C>A	uc003nzx.2	+	5	1071	c.503C>A	c.(502-504)CCC>CAC	p.P168H	PRRT1_uc003nzu.2_5'Flank|uc003nzv.3_5'Flank|PPT2_uc003nzw.2_Missense_Mutation_p.P174H|PPT2_uc011dpi.1_RNA|PPT2_uc003nzy.1_RNA|PPT2_uc003nzz.2_Missense_Mutation_p.P168H|PPT2_uc003oaa.2_Missense_Mutation_p.P168H|PPT2_uc010jtu.1_Missense_Mutation_p.P168H	NM_005155	NP_005146	Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2 isoform a	168					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity				0						TGCTATAGCCCCTGGGGCCAG	0.547													A	32123717	C	A	32123717	3	1	8	1	0	0	0	0	1	0	0	0	12412	623	22	5	539	5	PPT2	6	32123717	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	57846	32123717	138991350	586	7608											
EGFL8	80864	broad.mit.edu	37	chr6	32135028	32135028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgccagcatactcagcGtggccggtgagtgggcagga	16	11	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:32135028G>A	uc003oab.1	+	6	653	c.595G>A	c.(595-597)GTG>ATG	p.V199M	PPT2_uc003nzy.1_RNA|EGFL8_uc003oac.1_Missense_Mutation_p.V199M	NM_030652	NP_085155	Q99944	EGFL8_HUMAN	NG3 protein precursor	199	Potential.					extracellular region|integral to membrane	calcium ion binding				0						CATACTCAGCGTGGCCGGTGA	0.667													A	32135028	G	A	32135028	3	1	8	1	0	0	0	0	1	0	0	0	4965	1145	40	1	613	1	EGFL8	6	32135028	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	11311	32135028	138980039	587	7609											
GPSM3	63940	broad.mit.edu	37	chr6	32159535	32159535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctctgtcctcgagaggaCggagtggggcaggggctagg	19	8	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:32159535C>T	uc003oay.3	-	3	689	c.296G>A	c.(295-297)CGT>CAT	p.R99H	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.2_5'Flank|GPSM3_uc003oax.3_Missense_Mutation_p.R76H|GPSM3_uc003oaz.2_Missense_Mutation_p.R99H	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3 (AGS3-like, C.	99					signal transduction	cytoplasm	GTPase activator activity|protein binding				0						CTCGAGAGGACGGAGTGGGGC	0.632													T	32159535	C	T	32159535	3	4	8	1	0	0	0	0	1	0	0	0	6736	536	19	1	194	1	GPSM3	6	32159535	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	24507	32159535	138955532	588	7610											
NOTCH4	4855	broad.mit.edu	37	chr6	32168997	32168997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctagcttttcttcagcccGggccccaggataggggtaca	11	13	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:32168997G>A	uc003obb.2	-	22	4175	c.4036C>T	c.(4036-4038)CGG>TGG	p.R1346W	NOTCH4_uc003oba.2_Missense_Mutation_p.R9W|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1346	Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						TCTTCAGCCCGGGCCCCAGGA	0.622													A	32168997	G	A	32168997	3	1	8	1	0	0	0	0	1	0	0	0	10551	1115	39	1	2011	1	NOTCH4	6	32168997	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	9462	32168997	138946070	589	7611											
PSMB8	5696	broad.mit.edu	37	chr6	32809478	32809478	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatatttcctgagagccgaGtcccatgttcatccacgtag	8	12	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:32809478G>T	uc003oce.2	-	5	615	c.572C>A	c.(571-573)ACT>AAT	p.T191N	TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003ocd.2_5'Flank|PSMB8_uc003ocf.2_Missense_Mutation_p.T187N	NM_148919	NP_683720	P28062	PSB8_HUMAN	proteasome beta 8 subunit isoform E2 proprotein	191					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			skin(1)	1						TGAGAGCCGAGTCCCATGTTC	0.488													T	32809478	G	T	32809478	3	4	8	1	0	0	0	0	1	0	0	0	12683	1029	36	5	266	5	PSMB8	6	32809478	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	640481	32809478	138305589	590	7612											
COL11A2	1302	broad.mit.edu	37	chr6	33133481	33133481	+	Frame_Shift_Del	DEL	C	C	-													ccccaggactgccgggggctCccccggtcggtatggcctca							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:33133480_33133480TC>T	uc003ocx.1	-	62	4824	c.4596_4596GA>A	c.(4594-4596)ggafs	p.G1532fs	COL11A2_uc010jul.1_Frame_Shift_Del_p.G102fs|COL11A2_uc003ocy.1_Frame_Shift_Del_p.G1446fs|COL11A2_uc003ocz.1_Frame_Shift_Del_p.G1425fs	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1532					cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGCCGGGGGCTCCCCCGGTCG	0.637													-	33133481	C	-	33133481	7	5	8	1	0	1	0	1	0	0	0	0	3668	855	30	0	631	0	COL11A2	6	33133481	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	324003	33133481	137981586	591	7613											
ITPR3	3710	broad.mit.edu	37	chr6	33608312	33608313	+	Frame_Shift_Ins	INS	-	-	C													cggccggggacctggacaacINSccccctaagaagttccgtgg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:33608311_33608312A>AC	uc021ywr.1	+	1	364_365	c.140_141A>AC	c.(139-141)aacfs	p.N47fs		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	47					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GACCTGGACAACCCCCCTAAGA	0.609													C	33608313	-	C	33608312	7	5	8	1	0	1	1	0	0	0	0	0	7922	506	18	0	147	0	ITPR3	6	33608312	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	474831	33608312	137506755	592	7614											
ITPR3	3710	broad.mit.edu	37	chr6	33638235	33638235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgccctttgacctgcgcGcctccttctgccacctgatg	9	17	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:33638235G>A	uc011drk.1	+	19	2542	c.2323G>A	c.(2323-2325)GCC>ACC	p.A775T		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	775	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						TGACCTGCGCGCCTCCTTCTG	0.627													A	33638235	G	A	33638235	3	1	8	1	0	0	0	0	1	0	0	0	7922	1087	38	1	2397	1	ITPR3	6	33638235	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	29923	33638235	137476832	593	7615											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34826613	34826613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattccccggcccatgtccGcgtgaggcttgaccactacc	9	17	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:34826613G>A	uc003oju.3	+	14	2714	c.2480G>A	c.(2479-2481)CGC>CAC	p.R827H	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	827										ovary(3)	3						GCCCATGTCCGCGTGAGGCTT	0.527													A	34826613	G	A	34826613	3	1	8	1	0	0	0	0	1	0	0	0	16965	1087	38	1	2534	1	UHRF1BP1	6	34826613	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1188378	34826613	136288454	594	7616											
SCUBE3	222663	broad.mit.edu	37	chr6	35200656	35200656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgcatgaacaagaaccacGgctgtgcccacatttgccgg	10	12	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:35200656G>A	uc003okf.1	+	5	505	c.499G>A	c.(499-501)GGC>AGC	p.G167S	SCUBE3_uc003okg.1_Missense_Mutation_p.G166S|SCUBE3_uc003okh.1_Missense_Mutation_p.G38S	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	167	EGF-like 4.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						CAAGAACCACGGCTGTGCCCA	0.493													A	35200656	G	A	35200656	3	1	8	1	0	0	0	0	1	0	0	0	13946	1116	39	1	517	1	SCUBE3	6	35200656	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	374043	35200656	135914411	595	7617											
DNAH8	1769	broad.mit.edu	37	chr6	38828371	38828371	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgaatttctgggatgtActgatcgtcttgttatcact	8	6	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:38828371A>G	uc003ooe.1	+	41	6046	c.5446A>G	c.(5446-5448)ACT>GCT	p.T1816A		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TCTGGGATGTACTGATCGTCT	0.294													G	38828371	A	G	38828371	3	3	8	1	0	0	0	0	1	0	0	0	4607	391	14	3	5600	3	DNAH8	6	38828371	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	3627715	38828371	132286696	596	7618											
MOCS1	4337	broad.mit.edu	37	chr6	39893563	39893563	+	Frame_Shift_Del	DEL	C	C	-													ggctttgggggtcagcgggaCcccctcctcgggcatgcagt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:39893562_39893562AC>A	uc003opb.3	-	1	416	c.278_278GT>T	c.(277-279)gtcfs	p.V93fs	MOCS1_uc003opa.3_Frame_Shift_Del_p.V93fs|MOCS1_uc003opd.3_Frame_Shift_Del_p.V93fs|MOCS1_uc003ope.3_Frame_Shift_Del_p.V6fs	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	93	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGTCAGCGGGACCCCCTCCTC	0.617													-	39893563	C	-	39893563	7	5	8	1	0	1	0	1	0	0	0	0	9690	507	18	0	912	0	MOCS1	6	39893563	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	1065192	39893563	131221504	597	7619											
TREML1	340205	broad.mit.edu	37	chr6	41121543	41121543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcaaaatctggggccccCtggccccatccaccatgcag	10	16	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:41121543C>T	uc011duc.1	-	2	373	c.329G>A	c.(328-330)AGG>AAG	p.R110K	TREML1_uc003opx.2_Missense_Mutation_p.R110K|TREML1_uc011dud.1_Intron	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid	110	Ig-like V-type.|Extracellular (Potential).				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(1)	1	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTGGGGCCCCCTGGCCCCATC	0.602													T	41121543	C	T	41121543	3	4	8	1	0	0	0	0	1	0	0	0	16469	681	24	4	624	4	TREML1	6	41121543	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1227980	41121543	129993524	598	7620											
FOXP4	116113	broad.mit.edu	37	chr6	41558999	41558999	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcagctgaccctgaatgAgatctataactggttcacca	9	11	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:41558999A>G	uc003oql.2	+	13	1933	c.1475A>G	c.(1474-1476)GAG>GGG	p.E492G	FOXP4_uc003oqm.2_Missense_Mutation_p.E490G|FOXP4_uc003oqn.2_Missense_Mutation_p.E479G	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	forkhead box P4 isoform 1	492	Fork-head.				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					ACCCTGAATGAGATCTATAAC	0.592													G	41558999	A	G	41558999	3	3	8	1	0	0	0	0	1	0	0	0	6029	304	11	3	1521	3	FOXP4	6	41558999	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	437456	41558999	129556068	599	7621											
GUCA1A	2978	broad.mit.edu	37	chr6	42146094	42146094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtggaacagaagctccGctggtacttcaagctctatg	12	9	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:42146094G>A	uc003orx.2	+	4	923	c.278G>A	c.(277-279)CGC>CAC	p.R93H	GUCA1A_uc011duo.1_RNA|GUCA1A_uc010jxt.2_Missense_Mutation_p.R93H	NM_000409	NP_000400	P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	93	EF-hand 3.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity				0	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGAAGCTCCGCTGGTACTTC	0.617													A	42146094	G	A	42146094	3	1	8	1	0	0	0	0	1	0	0	0	6888	1087	38	1	284	1	GUCA1A	6	42146094	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	587095	42146094	128968973	600	7622											
CUL9	23113	broad.mit.edu	37	chr6	43167106	43167106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggccctagcagtgactcCgaggtaccagaaccctggca	12	13	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:43167106C>T	uc003ouk.2	+	13	3228	c.3153C>T	c.(3151-3153)TCC>TCT	p.S1051S	CUL9_uc003oul.2_Silent_p.S1051S|CUL9_uc010jyk.2_Silent_p.S203S	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1051					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GCAGTGACTCCGAGGTACCAG	0.592													T	43167106	C	T	43167106	2	4	8	1	0	0	0	0	0	0	0	1	4061	639	23	1		1	CUL9	6	43167106	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1021012	43167106	127947961	601	7623											
CUL9	23113	broad.mit.edu	37	chr6	43167827	43167827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcttcgggacctggtgaCagagtgtgagaagtacgcac	15	8	0	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:43167827C>T	uc003ouk.2	+	14	3392	c.3317C>T	c.(3316-3318)ACA>ATA	p.T1106I	CUL9_uc003oul.2_Missense_Mutation_p.T1106I|CUL9_uc010jyk.2_Missense_Mutation_p.T258I	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1106					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GACCTGGTGACAGAGTGTGAG	0.582													T	43167827	C	T	43167827	3	4	8	1	0	0	0	0	1	0	0	0	4061	478	17	4	3367	4	CUL9	6	43167827	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	721	43167827	127947240	602	7624											
CUL9	23113	broad.mit.edu	37	chr6	43172149	43172150	+	Frame_Shift_Ins	INS	-	-	AG													ctggatcagtacttagaacaINSgagagagacctctcggaacc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:43172148_43172149C>CAG	uc003ouk.3	+	20	4285_4286	c.4210_4211C>CAG	c.(4210-4212)cagfs	p.Q1404fs	CUL9_uc003oul.3_Frame_Shift_Ins_p.Q1404fs|CUL9_uc010jyk.3_Frame_Shift_Ins_p.Q556fs	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1404					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.E1406fs*35(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GTACTTAGAACAGAGAGAGACC	0.564													AG	43172150	-	AG	43172149	7	5	8	1	0	1	1	0	0	0	0	0	4061	188	7	0	4289	0	CUL9	6	43172149	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	4322	43172149	127942918	603	7625											
ZNF318	24149	broad.mit.edu	37	chr6	43322422	43322422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttgcttctgggaagcacGgttcttctcatcagagatct	9	10	5	1	rs146670568		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:43322422G>A	uc003oux.2	-	4	2728	c.2650C>T	c.(2650-2652)CGT>TGT	p.R884C	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	884	Potential.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TGGGAAGCACGGTTCTTCTCA	0.443													A	43322422	G	A	43322422	3	1	8	1	0	0	0	0	1	0	0	0	17833	1116	39	1	4217	1	ZNF318	6	43322422	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	150273	43322422	127792645	604	7626											
CDC5L	988	broad.mit.edu	37	chr6	44376250	44376250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaattgcacgtcaaactgccGaggaatctggcataacaaat	8	9	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:44376250G>A	uc003oxl.2	+	8	1232	c.973G>A	c.(973-975)GAG>AAG	p.E325K		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	325	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCAAACTGCCGAGGAATCTGG	0.428													A	44376250	G	A	44376250	3	1	8	1	0	0	0	0	1	0	0	0	3082	1059	37	1	1003	1	CDC5L	6	44376250	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1053828	44376250	126738817	605	7627											
DST	667	broad.mit.edu	37	chr6	56382029	56382029	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcctcttcactgcatgcGgtcatgattttatgcccaga	7	11	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:56382029G>A	uc003pdf.2	-	65	11995	c.11967C>T	c.(11965-11967)ACC>ACT	p.T3989T	DST_uc003pcz.3_Silent_p.T3811T|DST_uc011dxj.1_Silent_p.T3840T|DST_uc011dxk.1_Silent_p.T3851T|DST_uc003pcy.3_Silent_p.T3485T	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5897	Spectrin 10.				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)			CACTGCATGCGGTCATGATTT	0.388													A	56382029	G	A	56382029	2	1	8	1	0	0	0	0	0	0	0	1	4783	1103	39	1		1	DST	6	56382029	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	12005779	56382029	114733038	606	7628											
KIAA1586	57691	broad.mit.edu	37	chr6	56917834	56917834	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagaaaagcatgtccaTgtgtccaaggaatggattgc	11	7	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:56917834T>C	uc003pdj.2	+	4	707	c.537T>C	c.(535-537)CAT>CAC	p.H179H	KIAA1586_uc011dxm.1_Silent_p.H152H	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	hypothetical protein LOC57691	179							nucleic acid binding				0	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AGCATGTCCATGTGTCCAAGG	0.368													C	56917834	T	C	56917834	2	2	8	1	0	0	0	0	0	0	0	1	8245	1461	51	3		3	KIAA1586	6	56917834	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	535805	56917834	114197233	607	7629											
BAI3	577	broad.mit.edu	37	chr6	70042837	70042837	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caacatggtgattggcatttTggtatttaataaacttgttt	8	4	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:70042837T>G	uc003pev.3	+	24	3573	c.3125T>G	c.(3124-3126)TTG>TGG	p.L1042W	BAI3_uc010kak.2_Missense_Mutation_p.L1042W|BAI3_uc011dxx.1_Missense_Mutation_p.L248W|BAI3_uc003pex.1_Missense_Mutation_p.L172W	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1042	Helical; Name=5; (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				ATTGGCATTTTGGTATTTAAT	0.373													G	70042837	T	G	70042837	3	3	8	1	0	0	0	0	1	0	0	0	1300	1821	63	5	3211	5	BAI3	6	70042837	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	13125003	70042837	101072230	608	7630											
OGFRL1	79627	broad.mit.edu	37	chr6	72011673	72011673	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtatctcctgagaataAcgaagaaggtggaaatgata	12	4	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:72011673A>G	uc003pfx.1	+	7	1440	c.1277A>G	c.(1276-1278)AAC>AGC	p.N426S		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	426						membrane	receptor activity				0						CCTGAGAATAACGAAGAAGGT	0.373													G	72011673	A	G	72011673	3	3	8	1	0	0	0	0	1	0	0	0	10844	43	2	3	1303	3	OGFRL1	6	72011673	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1968836	72011673	99103394	609	7631											
KCNQ5	56479	broad.mit.edu	37	chr6	73787159	73787159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagatcctccgcatggtgcGcatggaccgaaggggaggca	15	11	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:73787159G>A	uc003pgk.2	+	4	1078	c.731G>A	c.(730-732)CGC>CAC	p.R244H	KCNQ5_uc003pgj.3_Missense_Mutation_p.R244H|KCNQ5_uc011dyh.1_Missense_Mutation_p.R244H|KCNQ5_uc011dyi.1_Missense_Mutation_p.R244H|KCNQ5_uc010kat.2_Missense_Mutation_p.R244H|KCNQ5_uc011dyj.1_Missense_Mutation_p.R244H|KCNQ5_uc011dyk.1_Missense_Mutation_p.R3H	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	244	Helical; Voltage-sensor; Name=Segment S4; (Potential).		R -> C (in a colorectal cancer sample; somatic mutation).		protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.R244C(1)		ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CGCATGGTGCGCATGGACCGA	0.438													A	73787159	G	A	73787159	3	1	8	1	0	0	0	0	1	0	0	0	8086	1087	38	1	745	1	KCNQ5	6	73787159	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1775486	73787159	97327908	610	7632											
FILIP1	27145	broad.mit.edu	37	chr6	76022149	76022149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagcagatgacgttgtgacCggtgttatggtgatagtgct	15	6	0	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:76022149C>T	uc003pia.2	-	5	3772	c.3399G>A	c.(3397-3399)CCG>CCA	p.P1133P	FILIP1_uc003phy.1_Silent_p.P1133P|FILIP1_uc003phz.2_Silent_p.P1034P|FILIP1_uc010kbe.2_Silent_p.P1136P|FILIP1_uc003pib.1_Silent_p.P885P	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1133										skin(3)|ovary(1)	4						ACGTTGTGACCGGTGTTATGG	0.562													T	76022149	C	T	76022149	2	4	8	1	0	0	0	0	0	0	0	1	5894	639	23	1		1	FILIP1	6	76022149	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2234990	76022149	95092918	611	7633											
KIAA1009	22832	broad.mit.edu	37	chr6	84872863	84872863	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttcagctcagtgttttacCtgtgacataagcaatctgat	8	8	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:84872863C>A	uc010kbp.2	-	19	2609	c.2512G>T	c.(2512-2514)GGT>TGT	p.G838C	KIAA1009_uc003pkj.3_Missense_Mutation_p.G762C|KIAA1009_uc003pki.3_Missense_Mutation_p.G224C	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	838	Potential.				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		AGTGTTTTACCTGTGACATAA	0.338													A	84872863	C	A	84872863	3	1	8	1	0	0	0	0	1	0	0	0	8203	695	24	5	1735	5	KIAA1009	6	84872863	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	8850714	84872863	86242204	612	7634											
AKIRIN2	55122	broad.mit.edu	37	chr6	88391397	88391397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcatcagaagtacaacacGgatctgtctgttggaaactc	10	9	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:88391397G>A	uc003pmk.2	-	2	903	c.320C>T	c.(319-321)CCG>CTG	p.P107L		NM_018064	NP_060534	Q53H80	AKIR2_HUMAN	akirin 2	107					innate immune response|transcription, DNA-dependent	transcriptional repressor complex					0						AGTACAACACGGATCTGTCTG	0.343													A	88391397	G	A	88391397	3	1	8	1	0	0	0	0	1	0	0	0	462	1116	39	1	307	1	AKIRIN2	6	88391397	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3518534	88391397	82723670	613	7635											
CNR1	1268	broad.mit.edu	37	chr6	88854349	88854349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggcctgtgaatggatatGtacctgtcgatggctgtgag	16	6	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:88854349G>A	uc011dzq.1	-	2	4208	c.645C>T	c.(643-645)TAC>TAT	p.Y215Y	CNR1_uc010kbz.2_Silent_p.Y215Y|CNR1_uc011dzr.1_Silent_p.Y215Y|CNR1_uc011dzs.1_Silent_p.Y215Y|CNR1_uc003pmq.3_Silent_p.Y215Y|CNR1_uc011dzt.1_Silent_p.Y215Y|CNR1_uc010kca.2_Silent_p.Y182Y	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	215	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GAATGGATATGTACCTGTCGA	0.572													A	88854349	G	A	88854349	2	1	8	1	0	0	0	0	0	0	0	1	3631	1372	48	4		4	CNR1	6	88854349	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	462952	88854349	82260718	614	7636											
MDN1	23195	broad.mit.edu	37	chr6	90368572	90368578	+	Frame_Shift_Del	DEL	TCCTCTT	TCCTCTT	-													ttctggtcggtctcggtctcTcctctttcctcagcttcatg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:90368571_90368577CTCCTCTT>C	uc003pnn.1	-	88	14889_14895	c.14773_14779AAGAGGAG>G	c.(14773-14781)agaggagagfs	p.R4925fs		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	4925					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTCTCGGTCTCTCCTCTTTCCTCAGCT	0.469													-	90368578	TCCTCTT	-	90368572	7	5	8	1	0	1	0	1	0	0	0	0	9415	1538	54	0	2068	0	MDN1	6	90368572	Frame_Shift_Del	DEL	TCCTCTT	TCGA-BR-4201-01A-01D-1126-08	1514223	90368572	80746495	615	7637											
BACH2	60468	broad.mit.edu	37	chr6	90660960	90660960	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagacaggcagagcgtgaTgctctcttcctcattctctt	8	13	3	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:90660960T>C	uc011eab.1	-	7	1674	c.865A>G	c.(865-867)ATC>GTC	p.I289V	BACH2_uc003pnw.2_Missense_Mutation_p.I289V|BACH2_uc010kch.2_Missense_Mutation_p.I289V	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	289						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CAGAGCGTGATGCTCTCTTCC	0.602													C	90660960	T	C	90660960	3	2	8	1	0	0	0	0	1	0	0	0	1284	1464	51	3	1672	3	BACH2	6	90660960	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	292388	90660960	80454107	616	7638											
MAP3K7	6885	broad.mit.edu	37	chr6	91257878	91257878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttactcgtatttgtagaaGcaatgtccatgaatgagcct	9	7	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:91257878G>A	uc003pnz.1	-	10	1130	c.968C>T	c.(967-969)GCT>GTT	p.A323V	MAP3K7_uc003poa.1_Missense_Mutation_p.A323V|MAP3K7_uc003pob.1_Missense_Mutation_p.A323V|MAP3K7_uc003poc.1_Missense_Mutation_p.A323V	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	323					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATTTGTAGAAGCAATGTCCAT	0.333													A	91257878	G	A	91257878	3	1	8	1	0	0	0	0	1	0	0	0	9255	971	34	2	884	2	MAP3K7	6	91257878	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	596918	91257878	79857189	617	7639											
SIM1	6492	broad.mit.edu	37	chr6	100897523	100897523	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaccgccgtcatctcgTcgtggtctgccgggtgaatg	14	12	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:100897523T>C	uc003pqj.3	-	4	608	c.401A>G	c.(400-402)GAC>GGC	p.D134G	SIM1_uc010kcu.2_Missense_Mutation_p.D134G	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	134	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CGTCATCTCGTCGTGGTCTGC	0.592													C	100897523	T	C	100897523	3	2	8	1	0	0	0	0	1	0	0	0	14323	1667	58	3	1931	3	SIM1	6	100897523	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	9639645	100897523	70217544	618	7640											
ARMC2	84071	broad.mit.edu	37	chr6	109274297	109274297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaaaaataaccaggctcGtgaacaattttccaaagaga	8	8	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:109274297G>A	uc003pss.3	+	13	1832	c.1658G>A	c.(1657-1659)CGT>CAT	p.R553H	ARMC2_uc011eao.1_Missense_Mutation_p.R388H	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	553	ARM 7.						binding				0		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AACCAGGCTCGTGAACAATTT	0.458													A	109274297	G	A	109274297	3	1	8	1	0	0	0	0	1	0	0	0	951	1145	40	1	1704	1	ARMC2	6	109274297	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	8376774	109274297	61840770	619	7641											
DDO	8528	broad.mit.edu	37	chr6	110736691	110736691	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctctgaaaaagcagtctTggaagccaccaaaatctctg	8	10	3	1	rs151067781	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:110736691T>C	uc003puc.2	-	1	63	c.59A>G	c.(58-60)CAA>CGA	p.Q20R	DDO_uc003pud.2_Missense_Mutation_p.Q20R	NM_003649	NP_003640	Q99489	OXDD_HUMAN	D-aspartate oxidase isoform a	Error:Variant_position_missing_in_Q99489_after_alignment					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			ovary(2)|breast(1)	3		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		AAAGCAGTCTTGGAAGCCACC	0.502													C	110736691	T	C	110736691	3	2	8	1	0	0	0	0	1	0	0	0	4334	1812	63	3	1070	3	DDO	6	110736691	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	1462394	110736691	60378376	620	7642											
TUBE1	51175	broad.mit.edu	37	chr6	112397615	112397615	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaggttatgacatcatcCtcaccagaaggataaatgga	11	7	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:112397615C>A	uc003pvq.2	-	7	660	c.546G>T	c.(544-546)GAG>GAT	p.E182D	TUBE1_uc003pvr.2_Missense_Mutation_p.E107D	NM_016262	NP_057346	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	182					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			ovary(1)	1		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TGACATCATCCTCACCAGAAG	0.398													A	112397615	C	A	112397615	3	1	8	1	0	0	0	0	1	0	0	0	16760	680	24	5	905	5	TUBE1	6	112397615	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1660924	112397615	58717452	621	7643											
LAMA4	3910	broad.mit.edu	37	chr6	112430768	112430768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtttgctgggggccaagcGtggtgtcagtagagattctg	18	6	2	1	rs145897390	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:112430768G>A	uc003pvu.2	-	39	5653	c.5344C>T	c.(5344-5346)CGC>TGC	p.R1782C	LAMA4_uc003pvv.2_Missense_Mutation_p.R1775C|LAMA4_uc003pvt.2_Missense_Mutation_p.R1775C	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1782	Laminin G-like 5.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGGGCCAAGCGTGGTGTCAGT	0.463													A	112430768	G	A	112430768	3	1	8	1	0	0	0	0	1	0	0	0	8608	1145	40	1	131	1	LAMA4	6	112430768	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	33153	112430768	58684299	622	7644											
RSPH4A	345895	broad.mit.edu	37	chr6	116938220	116938220	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctcatcacacaagccagtCagaaggaaacacctttcaac	5	14	4	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:116938220C>T	uc003pxe.2	+	1	579	c.434C>T	c.(433-435)TCA>TTA	p.S145L	RSPH4A_uc010kee.2_Missense_Mutation_p.S145L	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A isoform 1	145					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke					0						ACAAGCCAGTCAGAAGGAAAC	0.463									Kartagener_syndrome				T	116938220	C	T	116938220	3	4	8	1	0	0	0	0	1	0	0	0	13706	838	29	4	436	4	RSPH4A	6	116938220	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	4507452	116938220	54176847	623	7645											
CLVS2	134829	broad.mit.edu	37	chr6	123369846	123369846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgtacaccgtgatccGgcctttcctgaaggagaaaa	10	12	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:123369846G>A	uc003pzi.1	+	4	1513	c.644G>A	c.(643-645)CGG>CAG	p.R215Q		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	215	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						ACCGTGATCCGGCCTTTCCTG	0.393													A	123369846	G	A	123369846	3	1	8	1	0	0	0	0	1	0	0	0	3572	1116	39	1	654	1	CLVS2	6	123369846	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	6431626	123369846	47745221	624	7646											
THEMIS	387357	broad.mit.edu	37	chr6	128134568	128134568	+	Frame_Shift_Del	DEL	T	T	-													caggccagaacattcaccacTttttttattccctcacagag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:128134567_128134567CT>C	uc011ebt.2	-	3	1368	c.1219_1219AG>G	c.(1219-1221)gtgfs	p.V407fs	THEMIS_uc010kfa.3_Frame_Shift_Del_p.V310fs|THEMIS_uc021zfa.1_Frame_Shift_Del_p.V407fs|THEMIS_uc010kfb.3_Frame_Shift_Del_p.V372fs	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	407	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ACATTCACCACTTTTTTTATT	0.463													-	128134568	T	-	128134568	7	5	8	1	0	1	0	1	0	0	0	0	15857	1606	56	0	840	0	THEMIS	6	128134568	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	4764722	128134568	42980499	625	7647											
PTPRK	5796	broad.mit.edu	37	chr6	128297831	128297831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgcatatcctaaaaatccGgttgatcacatcacagtcca	5	11	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:128297831G>A	uc003qbk.2	-	27	4304	c.3937C>T	c.(3937-3939)CGG>TGG	p.R1313W	PTPRK_uc003qbj.2_Missense_Mutation_p.R1314W|PTPRK_uc010kfc.2_Missense_Mutation_p.R1320W|PTPRK_uc011ebu.1_Missense_Mutation_p.R1336W	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1313	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTAAAAATCCGGTTGATCACA	0.428													A	128297831	G	A	128297831	3	1	8	1	0	0	0	0	1	0	0	0	12805	1115	39	1	398	1	PTPRK	6	128297831	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	163263	128297831	42817236	626	7648											
TMEM200A	114801	broad.mit.edu	37	chr6	130762848	130762848	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttggatcggaacaacagCaagggatatatgaaactaga	12	5	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:130762848C>T	uc003qca.2	+	3	2152	c.1281C>T	c.(1279-1281)AGC>AGT	p.S427S	TMEM200A_uc010kfh.2_Silent_p.S427S|TMEM200A_uc010kfi.2_Silent_p.S427S|TMEM200A_uc003qcb.2_Silent_p.S427S	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	427	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GGAACAACAGCAAGGGATATA	0.468													T	130762848	C	T	130762848	2	4	8	1	0	0	0	0	0	0	0	1	16120	709	25	2		2	TMEM200A	6	130762848	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2465017	130762848	40352219	627	7649											
EYA4	2070	broad.mit.edu	37	chr6	133783564	133783564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggatgcagcagccagccGtctacacagcctactcacag	11	15	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:133783564G>A	uc003qec.3	+	8	987	c.529G>A	c.(529-531)GTC>ATC	p.V177I	EYA4_uc011ecq.1_Missense_Mutation_p.V123I|EYA4_uc011ecr.1_Missense_Mutation_p.V123I|EYA4_uc003qed.3_Missense_Mutation_p.V177I|EYA4_uc003qee.3_Missense_Mutation_p.V154I|EYA4_uc011ecs.1_Missense_Mutation_p.V177I|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	177					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GCAGCCAGCCGTCTACACAGC	0.488													A	133783564	G	A	133783564	3	1	8	1	0	0	0	0	1	0	0	0	5331	1145	40	1	555	1	EYA4	6	133783564	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3020716	133783564	37331503	628	7650											
MYB	4602	broad.mit.edu	37	chr6	135518338	135518338	+	Frame_Shift_Del	DEL	A	A	-													attccactggtcatccttcgAaaaaaacggggccaggccag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:135518337_135518337GA>G	uc003qfh.3	+	9	1641	c.1442_1442GA>G	c.(1441-1443)cgafs	p.R481fs	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Intron|MYB_uc003qfk.3_Intron|MYB_uc003qfc.3_Intron|MYB_uc003qfr.3_Intron|MYB_uc003qft.3_Intron|MYB_uc003qfs.3_Intron|MYB_uc003qfw.3_Intron|MYB_uc010kgi.3_Intron|MYB_uc003qfq.3_Frame_Shift_Del_p.R478fs|MYB_uc010kgj.3_Intron|MYB_uc003qfo.3_Intron|MYB_uc003qfu.3_Intron|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Intron|MYB_uc003qfv.3_Intron|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Intron|MYB_uc003qga.3_Intron|MYB_uc003qgb.3_Intron|MYB_uc010kgk.3_Intron|MYB_uc003qfd.3_Intron|MYB_uc003qfi.3_Frame_Shift_Del_p.R465fs|MYB_uc003qfe.3_Intron|MYB_uc003qfg.3_Intron|MYB_uc003qff.3_Intron|MYB_uc003qfj.3_Intron|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Intron|MYB_uc003qfb.1_Intron|MYB_uc003qge.1_Non-coding_Transcript	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	449					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GTCATCCTTCGAAAAAAACGG	0.522			T	NFIB	adenoid cystic carcinoma								-	135518338	A	-	135518338	7	5	8	1	0	1	0	1	0	0	0	0	10007	233	9	0	1481	0	MYB	6	135518338	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	1734774	135518338	35596729	629	7651											
AHI1	54806	broad.mit.edu	37	chr6	135811862	135811863	+	Frame_Shift_Ins	INS	-	-	T													tcttcaaagcgaactttggtINSttttacttttgcttcactct							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:135811861_135811862G>GT	uc003qgi.3	-	4	418_419	c.34_35C>AC	c.(34-36)accfs	p.T12fs	AHI1_uc003qgh.3_Frame_Shift_Ins_p.T12fs|AHI1_uc003qgj.3_Frame_Shift_Ins_p.T12fs|AHI1_uc003qgk.4_Non-coding_Transcript|AHI1_uc003qgl.3_Frame_Shift_Ins_p.T12fs	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	12						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GCGAACTTTGGTTTTTACTTTT	0.351													T	135811863	-	T	135811862	7	5	8	1	0	1	1	0	0	0	0	0	413	1725	60	0	3713	0	AHI1	6	135811862	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	293524	135811862	35303205	630	7652											
KIAA1244	57221	broad.mit.edu	37	chr6	138645253	138645253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtcctcctccccaagtgccGaggccgagtactggcgcatc	11	17	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:138645253G>A	uc003qhu.2	+	31	4963	c.4963G>A	c.(4963-4965)GAG>AAG	p.E1655K		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1655					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCCAAGTGCCGAGGCCGAGTA	0.647													A	138645253	G	A	138645253	3	1	8	1	0	0	0	0	1	0	0	0	8217	1059	37	1	5085	1	KIAA1244	6	138645253	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2833391	138645253	32469814	631	7653											
HECA	51696	broad.mit.edu	37	chr6	139488112	139488112	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtgttcagaaatgcccaCtttgattacagccctgcggg	10	11	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:139488112C>T	uc003qin.2	+	2	1248	c.963C>T	c.(961-963)CAC>CAT	p.H321H		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	321					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GAAATGCCCACTTTGATTACA	0.597													T	139488112	C	T	139488112	2	4	8	1	0	0	0	0	0	0	0	1	7038	564	20	4		4	HECA	6	139488112	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	842859	139488112	31626955	632	7654											
HECA	51696	broad.mit.edu	37	chr6	139488147	139488147	+	Frame_Shift_Del	DEL	G	G	-													tgcggggttggcagttcacaGggggggacacttcgacaccc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:139488146_139488146AG>A	uc003qin.3	+	1	1282	c.997_997AG>A	c.(997-999)aggfs	p.R333fs		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	333					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GGCAGTTCACAGGGGGGGACA	0.587													-	139488147	G	-	139488147	7	5	8	1	0	1	0	1	0	0	0	0	7038	1000	35	0	1004	0	HECA	6	139488147	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	35	139488147	31626920	633	7655											
TXLNB	167838	broad.mit.edu	37	chr6	139591652	139591652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctccaatttgcttcgagCgaggatagctctgctgtgtt	10	10	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:139591652C>T	uc011eds.1	-	4	793	c.628G>A	c.(628-630)GCT>ACT	p.A210T		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	210	Potential.					cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TTGCTTCGAGCGAGGATAGCT	0.438													T	139591652	C	T	139591652	3	4	8	1	0	0	0	0	1	0	0	0	16785	768	27	1	1454	1	TXLNB	6	139591652	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	103505	139591652	31523415	634	7656											
GPR126	57211	broad.mit.edu	37	chr6	142691377	142691377	+	Frame_Shift_Del	DEL	A	A	-													gcttaccaggtatctgttgcAaaaagcatctctattccaga							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:142691376_142691376CA>C	uc010khe.3	+	3	926	c.515_515CA>C	c.(514-516)gcafs	p.A172fs	GPR126_uc010khc.3_Frame_Shift_Del_p.A172fs|GPR126_uc010khd.3_Frame_Shift_Del_p.A172fs|GPR126_uc010khf.3_Frame_Shift_Del_p.A172fs|GPR126_uc003qix.2_Frame_Shift_Del_p.A172fs	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	172	Pentaxin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GTATCTGTTGCAAAAAGCATC	0.423													-	142691377	A	-	142691377	7	5	8	1	0	1	0	1	0	0	0	0	6640	117	5	0	530	0	GPR126	6	142691377	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	3099725	142691377	28423690	635	7657											
HIVEP2	3097	broad.mit.edu	37	chr6	143093401	143093401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggggctttatcctgtgtGcaagccacaagttcggctga	13	9	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:143093401G>A	uc003qjd.2	-	5	3218	c.2475C>T	c.(2473-2475)TGC>TGT	p.C825C		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	825					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TATCCTGTGTGCAAGCCACAA	0.512													A	143093401	G	A	143093401	2	1	8	1	0	0	0	0	0	0	0	1	7187	1311	46	2		2	HIVEP2	6	143093401	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	402024	143093401	28021666	636	7658											
STX11	8676	broad.mit.edu	37	chr6	144507854	144507854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgagtttgactcgccccaCgaggacatcgtgttcgagac	12	11	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:144507854C>T	uc003qks.3	+	2	282	c.90C>T	c.(88-90)CAC>CAT	p.H30H		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	30					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		ACTCGCCCCACGAGGACATCG	0.552									Familial_Hemophagocytic_Lymphohistiocytosis				T	144507854	C	T	144507854	2	4	8	1	0	0	0	0	0	0	0	1	15336	535	19	1		1	STX11	6	144507854	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1414453	144507854	26607213	637	7659											
FBXO30	84085	broad.mit.edu	37	chr6	146127423	146127423	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctttacaagaatggaaaActgcaccacaaaccaatgga	7	10	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:146127423A>G	uc003qla.2	-	2	318	c.119T>C	c.(118-120)GTT>GCT	p.V40A	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	40							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		AGAATGGAAAACTGCACCACA	0.448													G	146127423	A	G	146127423	3	3	8	1	0	0	0	0	1	0	0	0	5740	43	2	3	2126	3	FBXO30	6	146127423	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1619569	146127423	24987644	638	7660											
SHPRH	257218	broad.mit.edu	37	chr6	146247425	146247425	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcaagttatgggtagcaTgaagtctctacaaacatatc	7	9	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:146247425T>C	uc003qlf.2	-	16	3608	c.3209A>G	c.(3208-3210)CAT>CGT	p.H1070R	SHPRH_uc003qld.2_Missense_Mutation_p.H1079R|SHPRH_uc003qle.2_Missense_Mutation_p.H1079R|SHPRH_uc003qlg.1_Missense_Mutation_p.H626R|SHPRH_uc003qlh.2_5'UTR|SHPRH_uc003qli.1_5'UTR	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	1070					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATGGGTAGCATGAAGTCTCTA	0.413													C	146247425	T	C	146247425	3	2	8	1	0	0	0	0	1	0	0	0	14291	1464	51	3	1919	3	SHPRH	6	146247425	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	120002	146247425	24867642	639	7661											
STXBP5	134957	broad.mit.edu	37	chr6	147704088	147704088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatctggaagaaagaactgCggccatgttatcaagtgcag	12	8	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:147704088C>T	uc003qlz.2	+	27	3529	c.3368C>T	c.(3367-3369)GCG>GTG	p.A1123V	STXBP5_uc010khz.1_Missense_Mutation_p.A1087V|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.A778V	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	1123	v-SNARE coiled-coil homology.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GAAAGAACTGCGGCCATGTTA	0.448													T	147704088	C	T	147704088	3	4	8	1	0	0	0	0	1	0	0	0	15355	768	27	1	3474	1	STXBP5	6	147704088	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1456663	147704088	23410979	640	7662											
PLEKHG1	57480	broad.mit.edu	37	chr6	151161754	151161754	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatgagtcggagttggagCtatctcacaatcgtagaagg	13	6	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:151161754C>T	uc003qny.1	+	17	4192	c.3880C>T	c.(3880-3882)CTA>TTA	p.L1294L	PLEKHG1_uc011eem.1_Silent_p.L1353L	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	1294					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GGAGTTGGAGCTATCTCACAA	0.388													T	151161754	C	T	151161754	2	4	8	1	0	0	0	0	0	0	0	1	12068	796	28	2		2	PLEKHG1	6	151161754	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	3457666	151161754	19953313	641	7663											
MTHFD1L	25902	broad.mit.edu	37	chr6	151334921	151334921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccttatttcaggtaacgGctggtgttcctcttaagaaa	8	9	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:151334921G>A	uc003qob.2	+	22	2540	c.2272G>A	c.(2272-2274)GCT>ACT	p.A758T	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Missense_Mutation_p.A759T|MTHFD1L_uc003qoc.2_Missense_Mutation_p.A706T	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	758	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TCAGGTAACGGCTGGTGTTCC	0.353													A	151334921	G	A	151334921	3	1	8	1	0	0	0	0	1	0	0	0	9928	1203	42	2	2358	2	MTHFD1L	6	151334921	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	173167	151334921	19780146	642	7664											
ARID1B	57492	broad.mit.edu	37	chr6	157405929	157405929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgcctttctccccacatgCgtcccctcatctctccagca	5	20	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:157405929C>T	uc003qqn.2	+	5	2110	c.1958C>T	c.(1957-1959)GCG>GTG	p.A653V	ARID1B_uc003qqo.2_Missense_Mutation_p.A666V|ARID1B_uc003qqp.2_Missense_Mutation_p.A653V|ARID1B_uc003qqq.1_Missense_Mutation_p.A95V	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	711	Ser-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCCCACATGCGTCCCCTCAT	0.612													T	157405929	C	T	157405929	3	4	8	1	0	0	0	0	1	0	0	0	914	768	27	1	2193	1	ARID1B	6	157405929	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	6071008	157405929	13709138	643	7665											
SYNJ2	8871	broad.mit.edu	37	chr6	158490659	158490659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcggcacagctggtgggcGtctgtctttatatctttgta	11	9	3	0	rs144180367	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:158490659G>A	uc003qqx.1	+	14	1969	c.1894G>A	c.(1894-1896)GTC>ATC	p.V632I	SYNJ2_uc003qqw.1_Missense_Mutation_p.V632I|SYNJ2_uc003qqy.1_Missense_Mutation_p.V345I|SYNJ2_uc003qqz.1_Missense_Mutation_p.V249I|SYNJ2_uc003qra.1_5'Flank	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	632	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GCTGGTGGGCGTCTGTCTTTA	0.453													A	158490659	G	A	158490659	3	1	8	1	0	0	0	0	1	0	0	0	15450	1145	40	1	1948	1	SYNJ2	6	158490659	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1084730	158490659	12624408	644	7666											
TULP4	56995	broad.mit.edu	37	chr6	158834180	158834180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattcgtgtggattcagtaCgagggcaggtggtctgtgga	16	5	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:158834180C>T	uc003qrf.2	+	2	1693	c.336C>T	c.(334-336)TAC>TAT	p.Y112Y	TULP4_uc011efo.1_Silent_p.Y112Y|TULP4_uc003qrg.2_Silent_p.Y112Y	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	112	WD 1.				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGATTCAGTACGAGGGCAGGT	0.612													T	158834180	C	T	158834180	2	4	8	1	0	0	0	0	0	0	0	1	16773	547	19	1		1	TULP4	6	158834180	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	343521	158834180	12280887	645	7667											
TULP4	56995	broad.mit.edu	37	chr6	158923412	158923412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtgccggccccgcacccGgatgctgtgctcccagaaca	13	16	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:158923412G>A	uc003qrf.2	+	13	4074	c.2717G>A	c.(2716-2718)CGG>CAG	p.R906Q	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	906					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCCGCACCCGGATGCTGTGC	0.652													A	158923412	G	A	158923412	3	1	8	1	0	0	0	0	1	0	0	0	16773	1116	39	1	2767	1	TULP4	6	158923412	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	89232	158923412	12191655	646	7668											
PNLDC1	154197	broad.mit.edu	37	chr6	160227084	160227084	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctggagctggccaaggaAggcgactggatgactcttcc	15	10	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:160227084A>G	uc003qsx.1	+	7	669	c.498A>G	c.(496-498)GAA>GAG	p.E166E	PNLDC1_uc003qsy.1_Silent_p.E177E	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain	166	Cytoplasmic (Potential).					integral to membrane|nucleus	nucleic acid binding				0		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGGCCAAGGAAGGCGACTGGA	0.562													G	160227084	A	G	160227084	2	3	8	1	0	0	0	0	0	0	0	1	12148	69	3	3		3	PNLDC1	6	160227084	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1303672	160227084	10887983	647	7669											
AGPAT4	56895	broad.mit.edu	37	chr6	161560485	161560485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgaggatgaagctggccagCgtcagggaagacccgctcct	14	12	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:161560485C>T	uc003qtr.1	-	8	1238	c.1011G>A	c.(1009-1011)ACG>ACA	p.T337T	AGPAT4_uc003qts.1_Silent_p.T197T|AGPAT4_uc011egb.1_Silent_p.T175T	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	337					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding				0		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		AGCTGGCCAGCGTCAGGGAAG	0.622													T	161560485	C	T	161560485	2	4	8	1	0	0	0	0	0	0	0	1	389	755	27	1		1	AGPAT4	6	161560485	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1333401	161560485	9554582	648	7670											
AGPAT4	56895	broad.mit.edu	37	chr6	161587387	161587387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcccatacttgaggtaggCgcgcgggtccgtgaagatgg	15	10	0	3	rs115923077	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:161587387C>T	uc003qtr.1	-	3	468	c.241G>A	c.(241-243)GCC>ACC	p.A81T	AGPAT4_uc003qts.1_Intron|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_RNA|AGPAT4_uc011egc.1_Missense_Mutation_p.A81T|AGPAT4_uc011egd.1_Missense_Mutation_p.A19T|AGPAT4_uc011ege.1_Intron	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	81					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding				0		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		TTGAGGTAGGCGCGCGGGTCC	0.527													T	161587387	C	T	161587387	3	4	8	1	0	0	0	0	1	0	0	0	389	768	27	1	923	1	AGPAT4	6	161587387	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	26902	161587387	9527680	649	7671											
UNC93A	54346	broad.mit.edu	37	chr6	167721271	167721271	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctctgcacccccaggcgcGgtgacccacgtgtcctgcat	10	19	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:167721271G>A	uc003qvq.2	+	7	1156	c.981G>A	c.(979-981)GCG>GCA	p.A327A	UNC93A_uc003qvr.2_Silent_p.A285A	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	327	Helical; (Potential).					integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCCCAGGCGCGGTGACCCACG	0.627													A	167721271	G	A	167721271	2	1	8	1	0	0	0	0	0	0	0	1	16993	1103	39	1		1	UNC93A	6	167721271	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	6133884	167721271	3393796	650	7672											
MLLT4	4301	broad.mit.edu	37	chr6	168315892	168315892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccatgtccttgctacgaCgctgcagagtcaatgccgcc	11	14	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:168315892C>T	uc003qwd.2	+	18	2462	c.2320C>T	c.(2320-2322)CGC>TGC	p.R774C	MLLT4_uc003qwb.1_Missense_Mutation_p.R759C|MLLT4_uc003qwc.1_Missense_Mutation_p.R775C|MLLT4_uc003qwg.1_Missense_Mutation_p.R84C	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	775	Dilute.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTTGCTACGACGCTGCAGAGT	0.527			T	MLL	AL								T	168315892	C	T	168315892	3	4	8	1	0	0	0	0	1	0	0	0	9629	536	19	1	2393	1	MLLT4	6	168315892	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	594621	168315892	2799175	651	7673											
THBS2	7058	broad.mit.edu	37	chr6	169648753	169648753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagtaggtgagatccagcGtgtccgcggggccgttggag	17	10	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:169648753G>A	uc003qwt.2	-	4	616	c.368C>T	c.(367-369)ACG>ATG	p.T123M		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	123	TSP N-terminal.|Heparin-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GAGATCCAGCGTGTCCGCGGG	0.652													A	169648753	G	A	169648753	3	1	8	1	0	0	0	0	1	0	0	0	15851	1145	40	1	3230	1	THBS2	6	169648753	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1332861	169648753	1466314	652	7674											
ADAP1	11033	broad.mit.edu	37	chr7	939112	939112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggtgaaccagcgcttccGgaagccttccgtttgctgtg	12	12	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:939112G>A	uc003sjo.3	-	9	987	c.811C>T	c.(811-813)CGG>TGG	p.R271W	ADAP1_uc003sjm.3_Missense_Mutation_p.R97W|ADAP1_uc011jvs.1_Missense_Mutation_p.R176W|ADAP1_uc003sjn.3_Missense_Mutation_p.R199W|ADAP1_uc010ksc.2_Missense_Mutation_p.R199W	NM_006869	NP_006860	O75689	ADAP1_HUMAN	centaurin, alpha 1	271	PH 2.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			upper_aerodigestive_tract(1)	1						CAGCGCTTCCGGAAGCCTTCC	0.652													A	939112	G	A	939112	3	1	8	1	0	0	0	0	1	0	0	0	279	1115	39	1	325	1	ADAP1	7	939112	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08		939112	158199551	653	7675											
CYTH3	9265	broad.mit.edu	37	chr7	6204578	6204578	+	Frame_Shift_Del	DEL	T	T	-													tcttttagccaggaaagctaTtttttattggcaatccttcg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:6204577_6204577AT>A	uc003spt.3	-	12	1302	c.1198_1198AT>T	c.(1198-1200)tagfs	p.*400fs	CYTH3_uc011jws.2_Frame_Shift_Del_p.*315fs	NM_004227	NP_004218	O43739	CYH3_HUMAN	Homo sapiens cytohesin 3 (CYTH3), mRNA.	0					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						CAGGAAAGCTATTTTTTATTG	0.532													-	6204578	T	-	6204578	7	5	8	1	0	1	0	1	0	0	0	0	4205	1490	52	0	6	0	CYTH3	7	6204578	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	5265466	6204578	152934085	654	7676											
ZDHHC4	55146	broad.mit.edu	37	chr7	6620233	6620233	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgttctacctggcttcggTgctgatgggtcttgttctta	11	9	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:6620233T>C	uc003sqi.2	+	4	399	c.41T>C	c.(40-42)GTG>GCG	p.V14A	ZDHHC4_uc003sqg.2_Missense_Mutation_p.V14A|ZDHHC4_uc003sql.2_Missense_Mutation_p.V14A|ZDHHC4_uc003sqh.2_Missense_Mutation_p.V14A|ZDHHC4_uc003sqj.2_Missense_Mutation_p.V14A|ZDHHC4_uc003sqk.2_Missense_Mutation_p.V14A|ZDHHC4_uc003sqm.2_Missense_Mutation_p.V14A	NM_001134388	NP_001127860	Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	14	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|pancreas(1)	2		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		CTGGCTTCGGTGCTGATGGGT	0.498													C	6620233	T	C	6620233	3	2	8	1	0	0	0	0	1	0	0	0	17614	1696	59	3	43	3	ZDHHC4	7	6620233	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	415655	6620233	152518430	655	7677											
ZNF12	7559	broad.mit.edu	37	chr7	6731401	6731401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattaagtgctgacttctgcGagaaggttttcccacagtca	9	10	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:6731401G>A	uc003sqt.1	-	5	1726	c.1172C>T	c.(1171-1173)TCG>TTG	p.S391L	ZNF12_uc011jxa.1_Missense_Mutation_p.S229L|ZNF12_uc003sqs.1_Missense_Mutation_p.S353L	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	391	C2H2-type 5.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TGACTTCTGCGAGAAGGTTTT	0.438													A	6731401	G	A	6731401	3	1	8	1	0	0	0	0	1	0	0	0	17715	1059	37	1	925	1	ZNF12	7	6731401	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	111168	6731401	152407262	656	7678											
TMEM195	392636	broad.mit.edu	37	chr7	15458233	15458233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgaattgaagatgaacagCatatactgaagggggtatga	12	3	0	6			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:15458233C>T	uc003stb.1	-	5	729	c.559G>A	c.(559-561)GCT>ACT	p.A187T		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	187					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0						AGATGAACAGCATATACTGAA	0.313													T	15458233	C	T	15458233	3	4	8	1	0	0	0	0	1	0	0	0	16114	710	25	2	814	2	TMEM195	7	15458233	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	8726832	15458233	143680430	657	7679											
MPP6	51678	broad.mit.edu	37	chr7	24681374	24681374	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attccaaactagaagctgtcAgtgacaataacttggaatta	7	7	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:24681374A>G	uc003swx.2	+	4	456	c.157A>G	c.(157-159)AGT>GGT	p.S53G	MPP6_uc003swy.2_Missense_Mutation_p.S53G	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6	53	L27 2.				protein complex assembly		protein binding				0						AGAAGCTGTCAGTGACAATAA	0.343													G	24681374	A	G	24681374	3	3	8	1	0	0	0	0	1	0	0	0	9738	188	7	3	163	3	MPP6	7	24681374	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	9223141	24681374	134457289	658	7680											
CCDC129	223075	broad.mit.edu	37	chr7	31592688	31592688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaccttcaggaaggccaggAaaagagcaagagagagatcc	12	9	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:31592688A>G	uc003tcj.1	+	2	1043	c.50A>G	c.(49-51)GAA>GGA	p.E17G	CCDC129_uc011kad.1_Missense_Mutation_p.E27G|CCDC129_uc003tci.1_Missense_Mutation_p.E16G|CCDC129_uc011kae.1_Missense_Mutation_p.E43G|CCDC129_uc003tck.1_5'Flank	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	17											0						GAAGGCCAGGAAAAGAGCAAG	0.498													G	31592688	A	G	31592688	3	3	8	1	0	0	0	0	1	0	0	0	2764	246	9	3	52	3	CCDC129	7	31592688	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	6911314	31592688	127545975	659	7681											
PDE1C	5137	broad.mit.edu	37	chr7	32109997	32109997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcaatctccttggttggCgactccatagctgcaggtag	10	11	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:32109997C>T	uc003tcm.1	-	1	478	c.9G>A	c.(7-9)TCG>TCA	p.S3S	PDE1C_uc003tcn.1_Silent_p.S3S|PDE1C_uc003tco.1_Intron|PDE1C_uc003tcr.2_Silent_p.S3S|PDE1C_uc003tcs.2_Silent_p.S3S	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	3					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			CCTTGGTTGGCGACTCCATAG	0.562													T	32109997	C	T	32109997	2	4	8	1	0	0	0	0	0	0	0	1	11635	755	27	1		1	PDE1C	7	32109997	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	517309	32109997	127028666	660	7682											
FKBP9	11328	broad.mit.edu	37	chr7	33014265	33014265	+	Frame_Shift_Del	DEL	A	A	-													actttcaatgtgtttgtgggAaaaggacagctgatcacagg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:33014264_33014264GA>G	uc011kal.2	+	2	597	c.416_416GA>G	c.(415-417)ggafs	p.G139fs	AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Intron|FKBP9_uc003tdh.3_Frame_Shift_Del_p.G86fs|FKBP9_uc010kwm.3_5'UTR	NM_007270	NP_009201	O95302	FKBP9_HUMAN	Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA.	86	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GTGTTTGTGGGAAAAGGACAG	0.463													-	33014265	A	-	33014265	7	5	8	1	0	1	0	1	0	0	0	0	5915	233	9	0	264	0	FKBP9	7	33014265	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	904268	33014265	126124398	661	7683											
AVL9	23080	broad.mit.edu	37	chr7	33078502	33078502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacacatcaagtgtagaagaCgtgttcaaaaatagaaaata	7	5	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:33078502C>T	uc011kai.1	+	12	1524	c.1378C>T	c.(1378-1380)CGT>TGT	p.R460C	NT5C3_uc003tdi.2_Intron|NT5C3_uc003tdj.2_Intron|NT5C3_uc003tdk.2_Intron|uc003tdl.1_5'Flank	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	Error:Variant_position_missing_in_Q8NBF6_after_alignment						integral to membrane					0						GTGTAGAAGACGTGTTCAAAA	0.358													T	33078502	C	T	33078502	3	4	8	1	0	0	0	0	1	0	0	0	1228	551	19	1		1	AVL9	7	33078502	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	64237	33078502	126060161	662	7684											
BBS9	27241	broad.mit.edu	37	chr7	33427709	33427709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattcaaagataaaactcctGcccctcttcaacacctggac	5	14	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:33427709G>A	uc003tdn.1	+	19	2581	c.2068G>A	c.(2068-2070)GCC>ACC	p.A690T	BBS9_uc003tdo.1_Missense_Mutation_p.A655T|BBS9_uc003tdp.1_Missense_Mutation_p.A685T|BBS9_uc003tdq.1_Missense_Mutation_p.A650T|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.A214T|BBS9_uc003tds.1_Missense_Mutation_p.A113T|BBS9_uc003tdt.2_RNA	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	690					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			TAAAACTCCTGCCCCTCTTCA	0.393									Bardet-Biedl_syndrome				A	33427709	G	A	33427709	3	1	8	1	0	0	0	0	1	0	0	0	1342	1319	46	2	2138	2	BBS9	7	33427709	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	349207	33427709	125710954	663	7685											
SEPT7	989	broad.mit.edu	37	chr7	35942747	35942747	+	Frame_Shift_Del	DEL	A	A	-													acagcacaaagaattggaggAaaaacgtcgtcagttcgagg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:35942746_35942746GA>G	uc010kxc.3	+	11	1413	c.1189_1189GA>G	c.(1189-1191)gaafs	p.E397fs	SEPT7_uc011kat.2_Frame_Shift_Del_p.E397fs|SEPT7_uc011kau.2_Frame_Shift_Del_p.E363fs|SEPT7_uc011kav.2_Frame_Shift_Del_p.E346fs	NM_001788	NP_001779	Q16181	SEPT7_HUMAN	Homo sapiens septin 7 (SEPT7), transcript variant 1, mRNA.	399					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						AGAATTGGAGGAAAAACGTCG	0.373													-	35942747	A	-	35942747	7	5	8	1	0	1	0	1	0	0	0	0	14069	246	9	0	1240	0	SEPT7	7	35942747	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	2515038	35942747	123195916	664	7686											
ELMO1	9844	broad.mit.edu	37	chr7	37052934	37052934	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagaagttgccctcatTtccttccatgtcttgttcag	6	12	5	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:37052934T>C	uc003tfk.1	-	16	1714	c.1407A>G	c.(1405-1407)GAA>GAG	p.E469E	ELMO1_uc011kbc.1_Silent_p.E373E|ELMO1_uc010kxg.1_Silent_p.E469E	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	469	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						TTGCCCTCATTTCCTTCCATG	0.517													C	37052934	T	C	37052934	2	2	8	1	0	0	0	0	0	0	0	1	5065	1838	64	3		3	ELMO1	7	37052934	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	1110187	37052934	122085729	665	7687											
CDK13	8621	broad.mit.edu	37	chr7	40132832	40132832	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccagaacctagcactccggtGtcgggtaagtgtgcagatac	12	11	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:40132832G>C	uc003thh.3	+	13	3966	c.3684G>C	c.(3682-3684)GTG>GTC	p.V1228V	CDK13_uc003thi.3_Silent_p.V1168V|CDK13_uc003thj.2_Silent_p.V279V|CDK13_uc003thk.2_Silent_p.V161V	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1228					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						GCACTCCGGTGTCGGGTAAGT	0.453													C	40132832	G	C	40132832	2	2	8	1	0	0	0	0	0	0	0	1	3129	1364	48	5		5	CDK13	7	40132832	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3079898	40132832	119005831	666	7688											
GLI3	2737	broad.mit.edu	37	chr7	42005251	42005251	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgagggcatggaactgctgGccagcgtggctgtctggcag	17	10	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:42005251G>T	uc011kbh.1	-	15	3511	c.3420C>A	c.(3418-3420)GGC>GGA	p.G1140G	GLI3_uc011kbg.1_Silent_p.G1081G	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1140					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GGAACTGCTGGCCAGCGTGGC	0.677									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42005251	G	T	42005251	2	4	8	1	0	0	0	0	0	0	0	1	6439	1190	42	5		5	GLI3	7	42005251	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1872419	42005251	117133412	667	7689											
DDX56	54606	broad.mit.edu	37	chr7	44612618	44612618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtaggaacaagaacaaggCctctcactgcctgttctacc	9	12	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:44612618C>T	uc003tlg.2	-	3	897	c.254G>A	c.(253-255)GGC>GAC	p.G85D	DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Missense_Mutation_p.G21D|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Missense_Mutation_p.G85D|DDX56_uc010kyh.1_Intron	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 56	85	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			upper_aerodigestive_tract(1)	1						AAGAACAAGGCCTCTCACTGC	0.522													T	44612618	C	T	44612618	3	4	8	1	0	0	0	0	1	0	0	0	4374	739	26	2	1437	2	DDX56	7	44612618	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2607367	44612618	114526045	668	7690											
OGDH	4967	broad.mit.edu	37	chr7	44713473	44713473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggcagaagtttgagaccCctgggatcatgcagttcaca	11	11	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:44713473C>T	uc003tln.2	+	6	830	c.721C>T	c.(721-723)CCT>TCT	p.P241S	OGDH_uc003tlm.2_Missense_Mutation_p.P241S|OGDH_uc011kbx.1_Missense_Mutation_p.P237S|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Missense_Mutation_p.P252S|OGDH_uc011kbz.1_Intron|OGDH_uc003tlo.1_Missense_Mutation_p.P74S	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	241					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	GTTTGAGACCCCTGGGATCAT	0.562													T	44713473	C	T	44713473	3	4	8	1	0	0	0	0	1	0	0	0	10839	623	22	4	834	4	OGDH	7	44713473	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	100855	44713473	114425190	669	7691											
IGFBP3	3486	broad.mit.edu	37	chr7	45956203	45956215	+	Frame_Shift_Del	DEL	GACTCAGCACATT	GACTCAGCACATT	-													gggaatgtgtacacccctggGactcagcacattgaggaact							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:45956202_45956214GGACTCAGCACATT>G	uc003tnr.3	-	2	833_845	c.701_713AATGTGCTGAGTCC>C	c.(700-714)aatgtgctgagtcccfs	p.N234fs	IGFBP3_uc003tnq.3_Non-coding_Transcript|IGFBP3_uc003tns.3_Frame_Shift_Del_p.N228fs|IGFBP3_uc003tnt.3_Frame_Shift_Del_p.N131fs	NM_001013398	NP_001013416	P17936	IBP3_HUMAN	Homo sapiens insulin-like growth factor binding protein 3 (IGFBP3), transcript variant 1, mRNA.	228	Thyroglobulin type-1.		G -> S (in dbSNP:rs35712717).		negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity	p.P238T(1)|p.N228S(1)		large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	TACACCCCTGGGACTCAGCACATTGAGGAACTT	0.469													-	45956215	GACTCAGCACATT	-	45956203	7	5	8	1	0	1	0	1	0	0	0	0	7580	1174	41	0	189	0	IGFBP3	7	45956203	Frame_Shift_Del	DEL	GACTCAGCACATT	TCGA-BR-4201-01A-01D-1126-08	1242730	45956203	113182460	670	7692											
ABCA13	154664	broad.mit.edu	37	chr7	48312265	48312265	+	Frame_Shift_Del	DEL	A	A	-													cattttggatatcataaaacAatttaatttccaaaacatca							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:48312264_48312264CA>C	uc003toq.2	+	16	3025	c.3001_3001CA>C	c.(3001-3003)caafs	p.Q1001fs	ABCA13_uc010kyr.2_Frame_Shift_Del_p.Q504fs|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1001					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TATCATAAAACAATTTAATTT	0.303													-	48312265	A	-	48312265	7	5	8	1	0	1	0	1	0	0	0	0	31	130	5	0	2897	0	ABCA13	7	48312265	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	2356062	48312265	110826398	671	7693											
IKZF1	10320	broad.mit.edu	37	chr7	50467674	50467674	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagctacgagaaggagaaCgaaatgatgaagtcccacgt	12	9	0	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:50467674C>T	uc003tow.3	+	9	1077	c.909C>T	c.(907-909)AAC>AAT	p.N303N	IKZF1_uc003tox.3_Silent_p.N261N|IKZF1_uc003toy.3_Silent_p.N261N|IKZF1_uc011kck.1_Silent_p.N216N|IKZF1_uc003toz.3_Silent_p.N273N|IKZF1_uc010kyx.2_Silent_p.N43N|IKZF1_uc003tpa.3_Silent_p.N45N	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	303					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding			haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AGAAGGAGAACGAAATGATGA	0.652			D		ALL								T	50467674	C	T	50467674	2	4	8	1	0	0	0	0	0	0	0	1	7614	535	19	1		1	IKZF1	7	50467674	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2155409	50467674	108670989	672	7694											
COBL	23242	broad.mit.edu	37	chr7	51096609	51096609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcaatcttaatggctccGgtggagagggacacatctct	11	10	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:51096609G>A	uc003tpr.3	-	10	2369	c.2184C>T	c.(2182-2184)ACC>ACT	p.T728T	COBL_uc003tps.2_Silent_p.T785T|COBL_uc011kcl.1_Silent_p.T728T|COBL_uc003tpp.3_Silent_p.T514T|COBL_uc003tpq.3_Silent_p.T669T|COBL_uc003tpo.3_Silent_p.T270T	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	728										skin(3)|ovary(2)	5	Glioma(55;0.08)					TAATGGCTCCGGTGGAGAGGG	0.507													A	51096609	G	A	51096609	2	1	8	1	0	0	0	0	0	0	0	1	3653	1103	39	1		1	COBL	7	51096609	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	628935	51096609	108042054	673	7695											
ZNF680	340252	broad.mit.edu	37	chr7	63981628	63981628	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgtctagtaaggtgtgaggAccggttaaaagctttgccac	12	7	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:63981628A>T	uc003tta.2	-	4	1677	c.1504T>A	c.(1504-1506)TCC>ACC	p.S502T	ZNF680_uc010kzr.2_Missense_Mutation_p.S429T	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	zinc finger protein 680 isoform 1	502	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.118)|all_lung(88;0.243)				AGGTGTGAGGACCGGTTAAAA	0.348													T	63981628	A	T	63981628	3	4	8	1	0	0	0	0	1	0	0	0	18084	275	10	5	92	5	ZNF680	7	63981628	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	12885019	63981628	95157035	674	7696											
VKORC1L1	154807	broad.mit.edu	37	chr7	65419074	65419074	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacaggcatgacagcaagCgctgtggcggctttgatcct	12	11	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:65419074C>T	uc003tul.2	+	3	420	c.318C>T	c.(316-318)AGC>AGT	p.S106S	VKORC1L1_uc011kds.1_Missense_Mutation_p.R70C|VKORC1L1_uc003tum.1_5'Flank	NM_173517	NP_775788	Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit	106	Helical; (Potential).					integral to membrane					0		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	TGACAGCAAGCGCTGTGGCGG	0.537													T	65419074	C	T	65419074	2	4	8	1	0	0	0	0	0	0	0	1	17170	767	27	1		1	VKORC1L1	7	65419074	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1437446	65419074	93719589	675	7697											
CLIP2	7461	broad.mit.edu	37	chr7	73778608	73778608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggaggatctgcagttccGcgtggaggaggagtccatca	17	8	2	0	rs140333329		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:73778608G>A	uc003uam.2	+	8	1670	c.1343G>A	c.(1342-1344)CGC>CAC	p.R448H	CLIP2_uc003uan.2_Missense_Mutation_p.R448H	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	448	Potential.					microtubule associated complex				skin(3)	3						CTGCAGTTCCGCGTGGAGGAG	0.607													A	73778608	G	A	73778608	3	1	8	1	0	0	0	0	1	0	0	0	3533	1087	38	1	1369	1	CLIP2	7	73778608	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	8359534	73778608	85360055	676	7698											
POM121C	100101267	broad.mit.edu	37	chr7	75053846	75053846	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctggttgaaccactgtaaTgaagccttcttctctaagtc	8	11	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:75053846T>C	uc003udk.3	-	11	1719	c.834A>G	c.(832-834)TCA>TCG	p.S278S		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	POM121 membrane glycoprotein (rat)-like	520	Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding				0						ACCACTGTAATGAAGCCTTCT	0.478													C	75053846	T	C	75053846	2	2	8	1	0	0	0	0	0	0	0	1	12240	1451	51	3		3	POM121C	7	75053846	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	1275238	75053846	84084817	677	7699											
YWHAG	7532	broad.mit.edu	37	chr7	75959484	75959484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcggcgtgcccccacaaCgttcttgtaggccacagaca	11	14	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:75959484C>T	uc011kgj.1	-	2	371	c.154G>A	c.(154-156)GTT>ATT	p.V52I		NM_012479	NP_036611	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan	52					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			ovary(1)|lung(1)	2						GCCCCCACAACGTTCTTGTAG	0.517													T	75959484	C	T	75959484	3	4	8	1	0	0	0	0	1	0	0	0	17500	536	19	1	593	1	YWHAG	7	75959484	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	905638	75959484	83179179	678	7700											
ZP3	7784	broad.mit.edu	37	chr7	76062907	76062907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgtggaccactgcgtggCcacaccgacaccagaccaga	11	14	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:76062907C>T	uc003ufd.3	+	4	666	c.656C>T	c.(655-657)GCC>GTC	p.A219V	ZP3_uc003ufc.3_Missense_Mutation_p.A168V|ZP3_uc003ufe.2_Missense_Mutation_p.A127V	NM_001110354	NP_001103824	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 isoform 1	219	Extracellular (Potential).|ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding				0						CACTGCGTGGCCACACCGACA	0.592													T	76062907	C	T	76062907	3	4	8	1	0	0	0	0	1	0	0	0	18214	739	26	2	670	2	ZP3	7	76062907	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	103423	76062907	83075756	679	7701											
CCDC146	57639	broad.mit.edu	37	chr7	76891552	76891552	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcgaaatttaagaaagatGgaactgctcttgaaagtgtc	9	5	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:76891552G>T	uc003uga.2	+	9	1228	c.1101G>T	c.(1099-1101)ATG>ATT	p.M367I	CCDC146_uc010ldp.2_Missense_Mutation_p.M113I	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	367										ovary(1)|central_nervous_system(1)	2		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TAAGAAAGATGGAACTGCTCT	0.403													T	76891552	G	T	76891552	3	4	8	1	0	0	0	0	1	0	0	0	2780	1348	47	5	1131	5	CCDC146	7	76891552	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	828645	76891552	82247111	680	7702											
GNAI1	2770	broad.mit.edu	37	chr7	79818534	79818534	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgaagatagactttggtgActcagcccgggcggtaagtt	14	7	1	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:79818534A>G	uc003uhb.1	+	3	627	c.290A>G	c.(289-291)GAC>GGC	p.D97G	GNAI1_uc011kgt.1_Missense_Mutation_p.D45G	NM_002069	NP_002060	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein),	97					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						GACTTTGGTGACTCAGCCCGG	0.413													G	79818534	A	G	79818534	3	3	8	1	0	0	0	0	1	0	0	0	6504	275	10	3	300	3	GNAI1	7	79818534	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	2926982	79818534	79320129	681	7703											
PCLO	27445	broad.mit.edu	37	chr7	82579728	82579728	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggtatttctgaaacagtGctcaggataccaggtggggc	14	7	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:82579728G>A	uc003uhx.2	-	6	10465	c.10176C>T	c.(10174-10176)AGC>AGT	p.S3392S	PCLO_uc003uhv.2_Silent_p.S3392S|PCLO_uc010lec.2_Silent_p.S357S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3323					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTGAAACAGTGCTCAGGATAC	0.438													A	82579728	G	A	82579728	2	1	8	1	0	0	0	0	0	0	0	1	11583	1310	46	2		2	PCLO	7	82579728	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2761194	82579728	76558935	682	7704											
PCLO	27445	broad.mit.edu	37	chr7	82584025	82584025	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accaatgggggcctgggttgGgctagatccaggtgttaatt	15	7	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:82584025G>T	uc003uhx.2	-	5	6533	c.6244C>A	c.(6244-6246)CCA>ACA	p.P2082T	PCLO_uc003uhv.2_Missense_Mutation_p.P2082T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2013					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GCCTGGGTTGGGCTAGATCCA	0.468													T	82584025	G	T	82584025	3	4	8	1	0	0	0	0	1	0	0	0	11583	1232	43	5	9285	5	PCLO	7	82584025	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4297	82584025	76554638	683	7705											
SEMA3A	10371	broad.mit.edu	37	chr7	83764138	83764138	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatccttgatattaaccaggTcgaatgaaaatatgtgatcc	7	7	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:83764138T>A	uc003uhz.2	-	2	557	c.242A>T	c.(241-243)GAC>GTC	p.D81V		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	81	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						ATTAACCAGGTCGAATGAAAA	0.358													A	83764138	T	A	83764138	3	1	8	1	0	0	0	0	1	0	0	0	14024	1667	58	5	2137	5	SEMA3A	7	83764138	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	1180113	83764138	75374525	684	7706											
DMTF1	9988	broad.mit.edu	37	chr7	86817444	86817444	+	Frame_Shift_Del	DEL	A	A	-													taaacagttacatgagaaccAaaaaaacaacccaacgcttt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:86817443_86817443CA>C	uc003uih.3	+	12	1563	c.1237_1237CA>C	c.(1237-1239)caafs	p.Q413fs	DMTF1_uc003uii.3_Frame_Shift_Del_p.Q147fs|DMTF1_uc003uij.3_Frame_Shift_Del_p.Q147fs|DMTF1_uc011khb.2_Frame_Shift_Del_p.Q325fs|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Frame_Shift_Del_p.Q413fs|DMTF1_uc003uin.3_Frame_Shift_Del_p.Q147fs	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN	Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.	413	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ACATGAGAACCAAAAAAACAA	0.408													-	86817444	A	-	86817444	7	5	8	1	0	1	0	1	0	0	0	0	4592	130	5	0	1280	0	DMTF1	7	86817444	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	3053306	86817444	72321219	685	7707											
ABCB1	5243	broad.mit.edu	37	chr7	87196110	87196110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaatacttactctgtaagtCgggtgttaagctccccaaca	7	10	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:87196110C>T	uc003uiz.1	-	7	939	c.521G>A	c.(520-522)CGA>CAA	p.R174Q	ABCB1_uc011khc.1_Intron	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	174	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTCTGTAAGTCGGGTGTTAAG	0.368													T	87196110	C	T	87196110	3	4	8	1	0	0	0	0	1	0	0	0	40	884	31	1	3413	1	ABCB1	7	87196110	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	378666	87196110	71942553	686	7708											
ZNF804B	219578	broad.mit.edu	37	chr7	88964957	88964957	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgatctgggaaaagtcagGcccatgaagtgtaactccgg	13	8	2	2	rs138375583	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:88964957G>A	uc011khi.1	+	4	3199	c.2661G>A	c.(2659-2661)AGG>AGA	p.R887R		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	887						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAAAAGTCAGGCCCATGAAGT	0.433										HNSCC(36;0.09)			A	88964957	G	A	88964957	2	1	8	1	0	0	0	0	0	0	0	1	18168	1194	42	2		2	ZNF804B	7	88964957	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1768847	88964957	70173706	687	7709											
STEAP1	26872	broad.mit.edu	37	chr7	89790129	89790129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctttgtagcataaggacaCgggagagaccagcatgctaa	11	9	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:89790129C>T	uc003ujx.2	+	3	295	c.95C>T	c.(94-96)ACG>ATG	p.T32M	STEAP1_uc010lem.2_Missense_Mutation_p.T32M	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the	32					electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	all_hematologic(106;0.112)					CATAAGGACACGGGAGAGACC	0.388													T	89790129	C	T	89790129	3	4	8	1	0	0	0	0	1	0	0	0	15276	536	19	1	101	1	STEAP1	7	89790129	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	825172	89790129	69348534	688	7710											
PEX1	5189	broad.mit.edu	37	chr7	92146932	92146932	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaacagaggttgctgacgcGttatatatactaggaggttg	12	5	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:92146932G>A	uc003uly.2	-	5	993	c.897C>T	c.(895-897)AAC>AAT	p.N299N	PEX1_uc011khr.1_Silent_p.N91N|PEX1_uc010ley.2_Silent_p.N299N|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	299					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TTGCTGACGCGTTATATATAC	0.368													A	92146932	G	A	92146932	2	1	8	1	0	0	0	0	0	0	0	1	11735	1136	40	1		1	PEX1	7	92146932	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2356803	92146932	66991731	689	7711											
C7orf64	84060	broad.mit.edu	37	chr7	92163897	92163897	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttatttctcctcaaaatgTatgtgttcatccgggggacc	9	9	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:92163897T>C	uc003ulz.2	+	4	671	c.630T>C	c.(628-630)TGT>TGC	p.C210C	C7orf64_uc011khu.1_3'UTR|C7orf64_uc003uma.2_Silent_p.C210C	NM_032120	NP_115496	Q5RL73	CG064_HUMAN	hypothetical protein LOC84060	210							nucleotide binding			ovary(2)	2						CCTCAAAATGTATGTGTTCAT	0.413													C	92163897	T	C	92163897	2	2	8	1	0	0	0	0	0	0	0	1	2410	1644	57	3		3	C7orf64	7	92163897	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	16965	92163897	66974766	690	7712											
HEPACAM2	253012	broad.mit.edu	37	chr7	92848540	92848540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcagagatgcattgggtgGcatcatggtgaacttgtgtt	14	5	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:92848540G>A	uc003umm.2	-	2	327	c.304C>T	c.(304-306)CCA>TCA	p.P102S	HEPACAM2_uc003uml.2_Missense_Mutation_p.P90S|HEPACAM2_uc010lff.2_Missense_Mutation_p.P90S|HEPACAM2_uc011khy.1_Missense_Mutation_p.P125S	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 1	102	Extracellular (Potential).					integral to membrane		p.F102L(1)		ovary(3)|breast(1)|kidney(1)	5						GCATTGGGTGGCATCATGGTG	0.463													A	92848540	G	A	92848540	3	1	8	1	0	0	0	0	1	0	0	0	7053	1203	42	2	1120	2	HEPACAM2	7	92848540	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	684643	92848540	66290123	691	7713											
CCDC132	55610	broad.mit.edu	37	chr7	92882054	92882054	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaacaagtatatttttctgTggattcatttgatattgtta	7	3	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:92882054T>C	uc003umo.2	+	3	319	c.191T>C	c.(190-192)GTG>GCG	p.V64A	CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.V34A|CCDC132_uc003umr.2_Intron|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Missense_Mutation_p.V64A	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132 isoform a	64											0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TATTTTTCTGTGGATTCATTT	0.323													C	92882054	T	C	92882054	3	2	8	1	0	0	0	0	1	0	0	0	2767	1696	59	3	201	3	CCDC132	7	92882054	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	33514	92882054	66256609	692	7714											
CASD1	64921	broad.mit.edu	37	chr7	94184921	94184921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcatatttgtttgtgtgGcacatgaaatttctcagatc	7	7	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:94184921G>A	uc003uni.3	+	18	2472	c.2245G>A	c.(2245-2247)GCA>ACA	p.A749T	CASD1_uc003unj.3_Missense_Mutation_p.A749T	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	749						integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGTTTGTGTGGCACATGAAAT	0.393													A	94184921	G	A	94184921	3	1	8	1	0	0	0	0	1	0	0	0	2664	1203	42	2	2315	2	CASD1	7	94184921	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1302867	94184921	64953742	693	7715											
SGCE	8910	broad.mit.edu	37	chr7	94252690	94252690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttgcagtctcaaaggtgCgcctgttgtaggcagttatc	12	10	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:94252690C>T	uc003unl.2	-	4	521	c.410G>A	c.(409-411)CGC>CAC	p.R137H	SGCE_uc003unm.2_Missense_Mutation_p.R137H|SGCE_uc003unn.2_Missense_Mutation_p.R137H|SGCE_uc011kic.1_Missense_Mutation_p.R96H|SGCE_uc011kid.1_Missense_Mutation_p.R173H	NM_003919	NP_003910	O43556	SGCE_HUMAN	sarcoglycan, epsilon isoform 2	137	Extracellular (Potential).				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(1)	1	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTCAAAGGTGCGCCTGTTGTA	0.274													T	94252690	C	T	94252690	3	4	8	1	0	0	0	0	1	0	0	0	14202	768	27	1	1087	1	SGCE	7	94252690	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	67769	94252690	64885973	694	7716											
LMTK2	22853	broad.mit.edu	37	chr7	97823050	97823050	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaagtgacccctgagacGttcacagctggctcccaggg	12	13	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:97823050G>A	uc003upd.1	+	11	3566	c.3273G>A	c.(3271-3273)ACG>ACA	p.T1091T		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	1091					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCCCTGAGACGTTCACAGCTG	0.607													A	97823050	G	A	97823050	2	1	8	1	0	0	0	0	0	0	0	1	8859	1132	40	1		1	LMTK2	7	97823050	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3570360	97823050	61315613	695	7717											
TECPR1	25851	broad.mit.edu	37	chr7	97872868	97872868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagagaggtcgttgaaggGgtcgggcagctccttggggt	18	7	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:97872868G>A	uc003upg.2	-	6	773	c.568C>T	c.(568-570)CCC>TCC	p.P190S	TECPR1_uc003uph.1_Missense_Mutation_p.P111S	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	190						integral to membrane	protein binding			pancreas(1)	1						TCGTTGAAGGGGTCGGGCAGC	0.622													A	97872868	G	A	97872868	3	1	8	1	0	0	0	0	1	0	0	0	15740	1232	43	4	3013	4	TECPR1	7	97872868	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	49818	97872868	61265795	696	7718											
AGFG2	3268	broad.mit.edu	37	chr7	100151089	100151089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttctgggtgatcctgcacCgtctctctcagttgctgcct	9	14	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:100151089C>T	uc003uvf.2	+	4	687	c.551C>T	c.(550-552)CCG>CTG	p.P184L	AGFG2_uc003uvg.1_Intron|AGFG2_uc010lgy.2_Missense_Mutation_p.R46C	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	184					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1						GATCCTGCACCGTCTCTCTCA	0.557													T	100151089	C	T	100151089	3	4	8	1	0	0	0	0	1	0	0	0	381	652	23	1	565	1	AGFG2	7	100151089	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2278221	100151089	58987574	697	7719											
ACTL6B	51412	broad.mit.edu	37	chr7	100247736	100247736	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acatcagctctgtcagcttcTcccgcttggcccgtgtgttc	9	15	4	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:100247736T>A	uc003uvy.2	-	5	499	c.392A>T	c.(391-393)GAG>GTG	p.E131V	ACTL6B_uc003uvx.1_5'Flank|ACTL6B_uc003uvz.2_RNA	NM_016188	NP_057272	O94805	ACL6B_HUMAN	actin-like 6B	131					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			ovary(1)	1	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGTCAGCTTCTCCCGCTTGGC	0.463													A	100247736	T	A	100247736	3	1	8	1	0	0	0	0	1	0	0	0	199	1551	54	5	928	5	ACTL6B	7	100247736	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	96647	100247736	58890927	698	7720											
TRIP6	7205	broad.mit.edu	37	chr7	100469244	100469244	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatggggaaggcctaccaccCtggctgcttcacctgcgtgg	13	13	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:100469244C>A	uc003uww.2	+	7	1249	c.1079C>A	c.(1078-1080)CCT>CAT	p.P360H		NM_003302	NP_003293	Q15654	TRIP6_HUMAN	thyroid receptor-interacting protein 6	360	LIM zinc-binding 2.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCCTACCACCCTGGCTGCTTC	0.622													A	100469244	C	A	100469244	3	1	8	1	0	0	0	0	1	0	0	0	16556	681	24	5	1105	5	TRIP6	7	100469244	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	221508	100469244	58669419	699	7721											
SRRT	51593	broad.mit.edu	37	chr7	100481744	100481744	+	Frame_Shift_Del	DEL	G	G	-													gaagcgtcggcaggaggcccGgggggccctgcaaaaccgac							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:100481743_100481743CG>C	uc003uwy.2	+	5	907	c.640_640CG>C	c.(640-642)cggfs	p.R214fs	SRRT_uc010lhl.1_Frame_Shift_Del_p.R214fs|SRRT_uc003uxa.2_Frame_Shift_Del_p.R214fs|SRRT_uc003uwz.2_Frame_Shift_Del_p.R214fs	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	214					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCAGGAGGCCCGGGGGGCCCT	0.557													-	100481744	G	-	100481744	7	5	8	1	0	1	0	1	0	0	0	0	15171	1116	39	0	659	0	SRRT	7	100481744	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	12500	100481744	58656919	700	7722											
SERPINE1	5054	broad.mit.edu	37	chr7	100773872	100773872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagcacggtcaagcaagtgGacttttcagaggtggagaga	16	6	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:100773872G>A	uc003uxt.2	+	3	590	c.442G>A	c.(442-444)GAC>AAC	p.D148N	SERPINE1_uc011kkj.1_Missense_Mutation_p.D133N|SERPINE1_uc003uxu.1_5'Flank	NM_000602	NP_000593	P05121	PAI1_HUMAN	plasminogen activator inhibitor-1 isoform 1	148					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	CAAGCAAGTGGACTTTTCAGA	0.552													A	100773872	G	A	100773872	3	1	8	1	0	0	0	0	1	0	0	0	14111	1174	41	4	448	4	SERPINE1	7	100773872	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	292128	100773872	58364791	701	7723											
ORAI2	80228	broad.mit.edu	37	chr7	102086989	102086989	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggtgcagctggagacGcagtaccagtacccgcggcc	16	12	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:102086989G>A	uc010lhz.1	+	4	490	c.255G>A	c.(253-255)ACG>ACA	p.T85T	ORAI2_uc003uzj.2_Silent_p.T85T|ORAI2_uc003uzk.2_Silent_p.T85T|ORAI2_uc011kks.1_Silent_p.T8T	NM_001126340	NP_001119812	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator	85						integral to membrane	protein binding			ovary(1)|kidney(1)	2						AGCTGGAGACGCAGTACCAGT	0.672													A	102086989	G	A	102086989	2	1	8	1	0	0	0	0	0	0	0	1	11258	1074	38	1		1	ORAI2	7	102086989	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1313117	102086989	57051674	702	7724											
PSMC2	5701	broad.mit.edu	37	chr7	103002424	103002424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtacaaagataatcaatgCtgattcggaggacccaaaat	9	7	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:103002424C>T	uc003vbs.2	+	5	381	c.311C>T	c.(310-312)GCT>GTT	p.A104V	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011kln.1_Missense_Mutation_p.A104V|PSMC2_uc011klo.1_5'UTR	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	104					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0						ATAATCAATGCTGATTCGGAG	0.388													T	103002424	C	T	103002424	3	4	8	1	0	0	0	0	1	0	0	0	12686	797	28	2	329	2	PSMC2	7	103002424	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	915435	103002424	56136239	703	7725											
RELN	5649	broad.mit.edu	37	chr7	103138557	103138557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccaaatcttgtgtaaccGcttgtctcacagtggatccc	8	12	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:103138557G>A	uc003vca.2	-	54	8970	c.8810C>T	c.(8809-8811)GCG>GTG	p.A2937V	RELN_uc010liz.2_Missense_Mutation_p.A2937V	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2937					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTGTGTAACCGCTTGTCTCAC	0.428													A	103138557	G	A	103138557	3	1	8	1	0	0	0	0	1	0	0	0	13220	1087	38	1	1620	1	RELN	7	103138557	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	136133	103138557	56000106	704	7726											
COG5	10466	broad.mit.edu	37	chr7	106851578	106851578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagttcagcgggtgctctcGtgaacaaaaactgaataatg	10	8	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:106851578G>A	uc003ved.2	-	19	2816	c.2291C>T	c.(2290-2292)ACG>ATG	p.T764M	COG5_uc003vec.2_Missense_Mutation_p.T785M|COG5_uc003vee.2_Missense_Mutation_p.T785M	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	764					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						GGGTGCTCTCGTGAACAAAAA	0.468													A	106851578	G	A	106851578	3	1	8	1	0	0	0	0	1	0	0	0	3661	1145	40	1	244	1	COG5	7	106851578	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3713021	106851578	52287085	705	7727											
IFRD1	3475	broad.mit.edu	37	chr7	112108039	112108039	+	Frame_Shift_Del	DEL	T	T	-													ttgcttttcttgtccaggacTttttttatgaagacatggag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:112108038_112108038CT>C	uc003vgh.3	+	9	1379	c.909_909CT>C	c.(907-909)gacfs	p.D303fs	IFRD1_uc011kmn.2_Frame_Shift_Del_p.D253fs|IFRD1_uc003vgj.3_Frame_Shift_Del_p.D303fs|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Frame_Shift_Del_p.D253fs|IFRD1_uc003vgk.3_Frame_Shift_Del_p.D20fs	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	303					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TTGTCCAGGACTTTTTTTATG	0.388													-	112108039	T	-	112108039	7	5	8	1	0	1	0	1	0	0	0	0	7553	1609	56	0	944	0	IFRD1	7	112108039	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	5256461	112108039	47030624	706	7728											
C7orf60	154743	broad.mit.edu	37	chr7	112535733	112535733	+	Frame_Shift_Del	DEL	T	T	-													cttagtggcaagtacagctcTtttttcatctttctcaagtg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:112535732_112535732CT>C	uc011kms.1	-	3	570	c.443_443AG>G	c.(442-444)agafs	p.R148fs	C7orf60_uc003vgo.1_Frame_Shift_Del_p.R122fs	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	Homo sapiens chromosome 7 open reading frame 60 (C7orf60), mRNA.	122										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						AAGTACAGCTCTTTTTTCATC	0.358													-	112535733	T	-	112535733	7	5	8	1	0	1	0	1	0	0	0	0	2407	1617	56	0	865	0	C7orf60	7	112535733	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	427694	112535733	46602930	707	7729											
CFTR	1080	broad.mit.edu	37	chr7	117232480	117232480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgatactgcctcgcatcagCgtgatcagcactggccccac	10	16	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:117232480C>T	uc003vjd.2	+	14	2391	c.2259C>T	c.(2257-2259)AGC>AGT	p.S753S	CFTR_uc011knq.1_Silent_p.S159S	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	753	Cytoplasmic (Potential).				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTCGCATCAGCGTGATCAGCA	0.512									Cystic_Fibrosis				T	117232480	C	T	117232480	2	4	8	1	0	0	0	0	0	0	0	1	3294	767	27	1		1	CFTR	7	117232480	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	4696747	117232480	41906183	708	7730											
CTTNBP2	83992	broad.mit.edu	37	chr7	117407207	117407207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggctcaagccctccgtgCctacacaagatttctaggca	8	14	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:117407207C>T	uc003vjf.2	-	9	2894	c.2802G>A	c.(2800-2802)AGG>AGA	p.R934R		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	934	ANK 6.									ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCCCTCCGTGCCTACACAAGA	0.443													T	117407207	C	T	117407207	2	4	8	1	0	0	0	0	0	0	0	1	4045	738	26	2		2	CTTNBP2	7	117407207	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	174727	117407207	41731456	709	7731											
C7orf58	79974	broad.mit.edu	37	chr7	120629693	120629693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatggtctgtcgcccagtGttcccttgtcgtcggcgatt	12	12	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:120629693G>A	uc003vjq.3	+	2	465	c.18G>A	c.(16-18)GTG>GTA	p.V6V	C7orf58_uc003vjr.1_Silent_p.V6V|C7orf58_uc003vjs.3_Silent_p.V6V	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	6						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					GTCGCCCAGTGTTCCCTTGTC	0.527													A	120629693	G	A	120629693	2	1	8	1	0	0	0	0	0	0	0	1	2405	1364	48	4		4	C7orf58	7	120629693	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3222486	120629693	38508970	710	7732											
ASB15	142685	broad.mit.edu	37	chr7	123267253	123267253	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgactgcatttccctcctgCtggaatatggaggaagcgga	12	11	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:123267253C>T	uc003vku.1	+	9	1079	c.787C>T	c.(787-789)CTG>TTG	p.L263L	ASB15_uc003vkv.1_Silent_p.L263L|ASB15_uc003vkw.1_Silent_p.L263L	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	263	ANK 5.				intracellular signal transduction					skin(2)|lung(1)	3						TTCCCTCCTGCTGGAATATGG	0.517													T	123267253	C	T	123267253	2	4	8	1	0	0	0	0	0	0	0	1	1019	796	28	2		2	ASB15	7	123267253	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2637560	123267253	35871410	711	7733											
FLNC	2318	broad.mit.edu	37	chr7	128484899	128484899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacctgcccacggagcctgGcgagtacaccatcaacatcc	8	17	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:128484899G>A	uc003vnz.3	+	21	3589	c.3380G>A	c.(3379-3381)GGC>GAC	p.G1127D	FLNC_uc003voa.3_Missense_Mutation_p.G1127D	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1127	Filamin 9.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						ACGGAGCCTGGCGAGTACACC	0.627													A	128484899	G	A	128484899	3	1	8	1	0	0	0	0	1	0	0	0	5935	1203	42	2	3462	2	FLNC	7	128484899	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	5217646	128484899	30653764	712	7734											
AHCYL2	23382	broad.mit.edu	37	chr7	129019487	129019487	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctttttcttagcagatccaGtttgctgaccagaagcaaga	8	9	2	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:129019487G>C	uc011kov.1	+	2	426	c.372G>C	c.(370-372)CAG>CAC	p.Q124H	AHCYL2_uc003vot.2_Missense_Mutation_p.Q123H|AHCYL2_uc003vov.2_Missense_Mutation_p.Q21H|AHCYL2_uc011kow.1_Missense_Mutation_p.Q22H|AHCYL2_uc011kox.1_Missense_Mutation_p.Q21H	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	S-adenosylhomocysteine hydrolase-like 2 isoform	124					one-carbon metabolic process		adenosylhomocysteinase activity			ovary(2)	2						AGCAGATCCAGTTTGCTGACC	0.408													C	129019487	G	C	129019487	3	2	8	1	0	0	0	0	1	0	0	0	411	1020	36	5	500	5	AHCYL2	7	129019487	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	534588	129019487	30119176	713	7735											
FAM40B	57464	broad.mit.edu	37	chr7	129096401	129096401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcatgcgtgctgcctcccCgccctcttacactcttgacc	8	18	2	1	rs150058386		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:129096401C>T	uc011koy.1	+	9	996	c.956C>T	c.(955-957)CCG>CTG	p.P319L	FAM40B_uc003vow.2_Missense_Mutation_p.P319L|FAM40B_uc011koz.1_5'Flank	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	319											0						GCTGCCTCCCCGCCCTCTTAC	0.602													T	129096401	C	T	129096401	3	4	8	1	0	0	0	0	1	0	0	0	5561	652	23	1	990	1	FAM40B	7	129096401	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	76914	129096401	30042262	714	7736											
TSGA13	114960	broad.mit.edu	37	chr7	130364019	130364019	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgagcagtaactccttggAaaaatattttgatgcactct	7	8	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:130364019A>G	uc003vqi.2	-	5	818	c.361T>C	c.(361-363)TCC>CCC	p.S121P	TSGA13_uc003vqj.2_Missense_Mutation_p.S121P	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	testis specific, 13	121										ovary(2)	2	Melanoma(18;0.0435)					AACTCCTTGGAAAAATATTTT	0.443													G	130364019	A	G	130364019	3	3	8	1	0	0	0	0	1	0	0	0	16616	246	9	3	482	3	TSGA13	7	130364019	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1267618	130364019	28774644	715	7737											
PLXNA4	91584	broad.mit.edu	37	chr7	131866287	131866287	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgaagccaaactcctcGggcctctcggtcaggtctga	12	12	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:131866287G>A	uc003vra.3	-	18	3574	c.3345C>T	c.(3343-3345)CCC>CCT	p.P1115P		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1115	Extracellular (Potential).|IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						CAAACTCCTCGGGCCTCTCGG	0.577													A	131866287	G	A	131866287	2	1	8	1	0	0	0	0	0	0	0	1	12122	1103	39	1		1	PLXNA4	7	131866287	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1502268	131866287	27272376	716	7738											
LRGUK	136332	broad.mit.edu	37	chr7	133906546	133906546	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagatgttaagacatcccAcctgaaacctgaagcgcatc	7	13	0	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:133906546A>G	uc003vrm.1	+	16	1875	c.1859A>G	c.(1858-1860)CAC>CGC	p.H620R		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	620							ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5						AAGACATCCCACCTGAAACCT	0.313													G	133906546	A	G	133906546	3	3	8	1	0	0	0	0	1	0	0	0	8943	159	6	3	1921	3	LRGUK	7	133906546	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	2040259	133906546	25232117	717	7739											
AKR1B1	231	broad.mit.edu	37	chr7	134135578	134135578	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaataaggtagaggtccaggTagtccagcttcaggtcgctg	14	8	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:134135578T>C	uc003vrp.1	-	3	385	c.311A>G	c.(310-312)TAC>TGC	p.Y104C	AKR1B1_uc003vrq.1_RNA	NM_001628	NP_001619	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1	104					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			ovary(3)	3					NADH(DB00157)|Sulindac(DB00605)	GAGGTCCAGGTAGTCCAGCTT	0.572													C	134135578	T	C	134135578	3	2	8	1	0	0	0	0	1	0	0	0	466	1638	57	3	671	3	AKR1B1	7	134135578	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	229032	134135578	25003085	718	7740											
AKR1B10	57016	broad.mit.edu	37	chr7	134222396	134222396	+	Frame_Shift_Del	DEL	A	A	-													aggagattgctgcaaagcacAaaaaaaccgcagcccaggtg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:134222395_134222395CA>C	uc003vrr.3	+	6	1043	c.723_723CA>C	c.(721-723)cacfs	p.H241fs		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	241					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	p.H241N(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CTGCAAAGCACAAAAAAACCG	0.443													-	134222396	A	-	134222396	7	5	8	1	0	1	0	1	0	0	0	0	467	131	5	0	750	0	AKR1B10	7	134222396	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	86818	134222396	24916267	719	7741											
DGKI	9162	broad.mit.edu	37	chr7	137172408	137172408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccaaatcacagtctccaCgcacaactagaatacccaga	4	15	3	2	rs148779791		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:137172408C>T	uc003vtt.2	-	23	2331	c.2330G>A	c.(2329-2331)CGT>CAT	p.R777H	DGKI_uc003vtu.2_Missense_Mutation_p.R477H	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	777					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						ACAGTCTCCACGCACAACTAG	0.368													T	137172408	C	T	137172408	3	4	8	1	0	0	0	0	1	0	0	0	4471	536	19	1	915	1	DGKI	7	137172408	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2950012	137172408	21966255	720	7742											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138418958	138418958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgacatcttcattttataCgagttcagaaatgtgagttt	7	7	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:138418958C>T	uc003vuf.2	-	15	1852	c.1614G>A	c.(1612-1614)TCG>TCA	p.S538S	ATP6V0A4_uc003vug.2_Silent_p.S538S|ATP6V0A4_uc003vuh.2_Silent_p.S538S	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	538	Cytoplasmic (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1						TCATTTTATACGAGTTCAGAA	0.413													T	138418958	C	T	138418958	2	4	8	1	0	0	0	0	0	0	0	1	1170	523	19	1		1	ATP6V0A4	7	138418958	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1246550	138418958	20719705	721	7743											
TTC26	79989	broad.mit.edu	37	chr7	138865925	138865925	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcagtctcttacagctcaTtgctaatgactgctacaagg	7	11	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:138865925T>A	uc003vus.2	+	16	1514	c.1400T>A	c.(1399-1401)ATT>AAT	p.I467N	TTC26_uc011kqn.1_Missense_Mutation_p.I467N|TTC26_uc011kqo.1_Missense_Mutation_p.I436N|TTC26_uc011kqp.1_Missense_Mutation_p.I362N|TTC26_uc003vut.2_Missense_Mutation_p.I327N|TTC26_uc011kqq.1_Missense_Mutation_p.I336N	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26 isoform 1	467							binding			ovary(1)	1						TTACAGCTCATTGCTAATGAC	0.393													A	138865925	T	A	138865925	3	1	8	1	0	0	0	0	1	0	0	0	16691	1493	52	5	1462	5	TTC26	7	138865925	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	446967	138865925	20272738	722	7744											
BRAF	673	broad.mit.edu	37	chr7	140453128	140453128	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgatgggacccactccatcGagatttcactgtagctagac	9	12	1	3	rs104886015		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:140453128G>A	uc003vwc.3	-	15	1868	c.1807C>T	c.(1807-1809)CGA>TGA	p.R603*		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	603	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.R603*(4)|p.T599_R603>I(2)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.V600_W604del(1)	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	CCACTCCATCGAGATTTCACT	0.383		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				A	140453128	G	A	140453128	4	1	8	1	0	0	0	0	0	1	0	0	1496	1066	37	1	509	1	BRAF	7	140453128	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1587203	140453128	18685535	723	7745											
OR9A2	135924	broad.mit.edu	37	chr7	142723873	142723873	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacagccacataacggtccAcagccatcactccaagtaat	5	15	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:142723873A>G	uc003wcc.1	-	1	347	c.347T>C	c.(346-348)GTG>GCG	p.V116A		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A,	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	Melanoma(164;0.059)					ATAACGGTCCACAGCCATCAC	0.448													G	142723873	A	G	142723873	3	3	8	1	0	0	0	0	1	0	0	0	11248	159	6	3	589	3	OR9A2	7	142723873	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	2270745	142723873	16414790	724	7746											
TPK1	27010	broad.mit.edu	37	chr7	144320278	144320278	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttaagtctttttcttctAtcttcttttggagcatttta	4	8	5	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:144320278A>G	uc003weq.2	-	6	438	c.335T>C	c.(334-336)ATA>ACA	p.I112T	TPK1_uc003weo.2_Missense_Mutation_p.I107T|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.I112T|TPK1_uc003wes.2_RNA	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1 isoform a	112					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			ovary(2)	2					Thiamine(DB00152)	TTTTTCTTCTATCTTCTTTTG	0.323													G	144320278	A	G	144320278	3	3	8	1	0	0	0	0	1	0	0	0	16401	449	16	3	412	3	TPK1	7	144320278	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1596405	144320278	14818385	725	7747											
ZNF398	57541	broad.mit.edu	37	chr7	148876693	148876693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctactgtggcaggagcttcCgctacaaacagacactcaag	9	13	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:148876693C>T	uc003wfl.2	+	6	2004	c.1729C>T	c.(1729-1731)CGC>TGC	p.R577C	ZNF398_uc011kul.1_Missense_Mutation_p.R406C|ZNF398_uc011kum.1_Missense_Mutation_p.R582C	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	zinc finger 398 isoform a	577	C2H2-type 9.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CAGGAGCTTCCGCTACAAACA	0.602													T	148876693	C	T	148876693	3	4	8	1	0	0	0	0	1	0	0	0	17882	652	23	1	1751	1	ZNF398	7	148876693	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	4556415	148876693	10261970	726	7748											
ZNF777	27153	broad.mit.edu	37	chr7	149129387	149129387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgtagggccgctcacccGtgtgcgtgatctggtgtttg	15	10	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:149129387G>A	uc003wfv.2	-	6	2139	c.1976C>T	c.(1975-1977)ACG>ATG	p.T659M		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCGCTCACCCGTGTGCGTGAT	0.632													A	149129387	G	A	149129387	3	1	8	1	0	0	0	0	1	0	0	0	18147	1145	40	1	523	1	ZNF777	7	149129387	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	252694	149129387	10009276	727	7749											
ZNF777	27153	broad.mit.edu	37	chr7	149133705	149133705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccagcatctgcttcagttCgctgaactcgctggagcctt	9	14	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:149133705C>T	uc003wfv.2	-	5	1463	c.1300G>A	c.(1300-1302)GAA>AAA	p.E434K		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	434	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGCTTCAGTTCGCTGAACTCG	0.652													T	149133705	C	T	149133705	3	4	8	1	0	0	0	0	1	0	0	0	18147	893	31	1	1203	1	ZNF777	7	149133705	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	4318	149133705	10004958	728	7750											
SSPO	23145	broad.mit.edu	37	chr7	149485990	149485990	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaaccaggacgactgtggCgatggctctgatgaggaggg	17	8	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:149485990C>T	uc010lpk.2	+	29	4209	c.4209C>T	c.(4207-4209)GGC>GGT	p.G1403G		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1403	LDL-receptor class A 1.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACGACTGTGGCGATGGCTCTG	0.582													T	149485990	C	T	149485990	2	4	8	1	0	0	0	0	0	0	0	1	15188	755	27	1		1	SSPO	7	149485990	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	352285	149485990	9652673	729	7751											
SSPO	23145	broad.mit.edu	37	chr7	149508064	149508064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggggcacctctacccccCgggcagcactgtggttcgtc	13	16	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:149508064C>T	uc010lpk.2	+	67	9458	c.9458C>T	c.(9457-9459)CCG>CTG	p.P3153L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3153					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTCTACCCCCCGGGCAGCACT	0.602													T	149508064	C	T	149508064	3	4	8	1	0	0	0	0	1	0	0	0	15188	652	23	1	9714	1	SSPO	7	149508064	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	22074	149508064	9630599	730	7752											
ZNF862	643641	broad.mit.edu	37	chr7	149547397	149547397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtacagagacgtgatgCggatgaactacgagctgttg	14	7	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:149547397C>T	uc010lpn.2	+	5	1279	c.1087C>T	c.(1087-1089)CGG>TGG	p.R363W	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	363	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						AGACGTGATGCGGATGAACTA	0.577													T	149547397	C	T	149547397	3	4	8	1	0	0	0	0	1	0	0	0	18192	759	27	1	1105	1	ZNF862	7	149547397	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	39333	149547397	9591266	731	7753											
CHPF2	54480	broad.mit.edu	37	chr7	150935265	150935265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcccgaagtcctcaaccGctgtcgcatgaatgccatct	10	14	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:150935265G>A	uc003wjr.1	+	4	3330	c.1817G>A	c.(1816-1818)CGC>CAC	p.R606H	CHPF2_uc003wjq.1_Missense_Mutation_p.R598H|MIR671_hsa-mir-671|MI0003760_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	606	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1						GTCCTCAACCGCTGTCGCATG	0.587													A	150935265	G	A	150935265	3	1	8	1	0	0	0	0	1	0	0	0	3369	1087	38	1	1831	1	CHPF2	7	150935265	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1387868	150935265	8203398	732	7754											
HTR5A	3361	broad.mit.edu	37	chr7	154862889	154862889	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtggccgcgctggtcAtgccgctgagcctggtgcac	15	14	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:154862889A>G	uc003wlu.1	+	1	344	c.280A>G	c.(280-282)ATG>GTG	p.M94V	uc011kvt.1_Missense_Mutation_p.M42T|uc003wlt.2_Missense_Mutation_p.M42T	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	94	Helical; Name=2; (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CGCGCTGGTCATGCCGCTGAG	0.682													G	154862889	A	G	154862889	3	3	8	1	0	0	0	0	1	0	0	0	7450	217	8	3	282	3	HTR5A	7	154862889	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	3927624	154862889	4275774	733	7755											
PTPRN2	5799	broad.mit.edu	37	chr7	157959878	157959878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagctggccgagggtccGcggcaggaggtcctcgcgga	19	12	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:157959878G>A	uc003wno.2	-	6	776	c.655C>T	c.(655-657)CGG>TGG	p.R219W	PTPRN2_uc003wnp.2_Missense_Mutation_p.R202W|PTPRN2_uc003wnq.2_Missense_Mutation_p.R219W|PTPRN2_uc003wnr.2_Missense_Mutation_p.R181W|PTPRN2_uc011kwa.1_Missense_Mutation_p.R242W	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	219	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCGAGGGTCCGCGGCAGGAGG	0.657													A	157959878	G	A	157959878	3	1	8	1	0	0	0	0	1	0	0	0	12808	1086	38	1	2464	1	PTPRN2	7	157959878	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3096989	157959878	1178785	734	7756											
WDR60	55112	broad.mit.edu	37	chr7	158734693	158734693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagtgggacagcagcacGgacagccatgcggtcaccgg	15	13	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:158734693G>A	uc003woe.3	+	24	3014	c.2856G>A	c.(2854-2856)ACG>ACA	p.T952T	WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Silent_p.T584T	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	952	WD 4.									ovary(2)|breast(1)|central_nervous_system(1)	4	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		ACAGCAGCACGGACAGCCATG	0.622													A	158734693	G	A	158734693	2	1	8	1	0	0	0	0	0	0	0	1	17308	1103	39	1		1	WDR60	7	158734693	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	774815	158734693	403970	735	7757											
CSMD1	64478	broad.mit.edu	37	chr8	3008925	3008925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattttcacttaccatagcCgatgggtaatgagatcctcc	7	11	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:3008925C>T	uc011kwk.1	-	40	6418	c.6028G>A	c.(6028-6030)GGC>AGC	p.G2010S	CSMD1_uc011kwj.1_Missense_Mutation_p.G1402S|CSMD1_uc003wqe.2_Missense_Mutation_p.G1166S|CSMD1_uc010lrg.2_Missense_Mutation_p.G78S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2010	Extracellular (Potential).|CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTACCATAGCCGATGGGTAAT	0.443													T	3008925	C	T	3008925	3	4	8	1	0	0	0	0	1	0	0	0	3944	652	23	1	4793	1	CSMD1	8	3008925	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08		3008925	143355097	736	7758											
MCPH1	79648	broad.mit.edu	37	chr8	6302423	6302423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcaggtcggaagacaggCtgcagcacgtggcgggacct	17	10	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:6302423C>T	uc003wqi.2	+	8	1248	c.1180C>T	c.(1180-1182)CTG>TTG	p.L394L	MCPH1_uc003wqh.2_Silent_p.L394L|MCPH1_uc011kwl.1_Silent_p.L346L	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	394						microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GGAAGACAGGCTGCAGCACGT	0.512													T	6302423	C	T	6302423	2	4	8	1	0	0	0	0	0	0	0	1	9398	796	28	2		2	MCPH1	8	6302423	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	3293498	6302423	140061599	737	7759											
RP1L1	94137	broad.mit.edu	37	chr8	10470757	10470757	+	Frame_Shift_Del	DEL	G	G	-													tgccaggagcagggcccaccGgggggttgctaggaccaggc					rs74594406	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:10470757delG	uc003wtc.2	-	4	1080	c.851delC	c.(850-852)CCGfs	p.P284fs		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	284					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		AGGGCCCACCGGGGGGTTGCT	0.662													-	10470757	G	-	10470757	7	5	8	1	0	1	0	1	0	0	0	0	13533	1116	39	0	6355	0	RP1L1	8	10470757	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	4168334	10470757	135893265	738	7760											
SOX7	83595	broad.mit.edu	37	chr8	10692279	10692279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagcccacttctgcttcCgccgacctgtaaatgaaaaa	6	15	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:10692279C>T	uc011kwz.1	-	2	59	c.26G>A	c.(25-27)CGG>CAG	p.R9Q	PINX1_uc003wth.2_Missense_Mutation_p.R9Q|PINX1_uc003wti.2_Missense_Mutation_p.R9Q	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	Error:Variant_position_missing_in_Q9BT81_after_alignment					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)	1				COAD - Colon adenocarcinoma(149;0.0732)		CTTCTGCTTCCGCCGACCTGT	0.448													T	10692279	C	T	10692279	3	4	8	1	0	0	0	0	1	0	0	0	14956	652	23	1		1	SOX7	8	10692279	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	221522	10692279	135671743	739	7761											
DLC1	10395	broad.mit.edu	37	chr8	12957788	12957788	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaaccccagctttgagggCgctttgtgcttgctgtgatg	12	10	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:12957788C>T	uc003wwm.2	-	9	2502	c.2058G>A	c.(2056-2058)GCG>GCA	p.A686A	DLC1_uc003wwk.1_Silent_p.A249A|DLC1_uc003wwl.1_Silent_p.A283A|DLC1_uc011kxx.1_Silent_p.A175A	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	686					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GCTTTGAGGGCGCTTTGTGCT	0.557													T	12957788	C	T	12957788	2	4	8	1	0	0	0	0	0	0	0	1	4550	755	27	1		1	DLC1	8	12957788	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2265509	12957788	133406234	740	7762											
MTUS1	57509	broad.mit.edu	37	chr8	17611860	17611860	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcctattggggtattcGttttgattgttgattttcct	10	6	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:17611860G>C	uc003wxv.2	-	2	1931	c.1457C>G	c.(1456-1458)ACG>AGG	p.T486R	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.T486R|MTUS1_uc010lsz.2_Missense_Mutation_p.T486R	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	486						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		TGGGGTATTCGTTTTGATTGT	0.393													C	17611860	G	C	17611860	3	2	8	1	0	0	0	0	1	0	0	0	9965	1145	40	5	2730	5	MTUS1	8	17611860	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4654072	17611860	128752162	741	7763											
XPO7	23039	broad.mit.edu	37	chr8	21848376	21848376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccaacctgacagacatgCggtgtcggactaccttctac	9	13	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:21848376C>T	uc003xaa.3	+	18	2089	c.1987C>T	c.(1987-1989)CGG>TGG	p.R663W	XPO7_uc010lti.2_Missense_Mutation_p.R672W|XPO7_uc010ltk.2_Missense_Mutation_p.R664W	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	663					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GACAGACATGCGGTGTCGGAC	0.418													T	21848376	C	T	21848376	3	4	8	1	0	0	0	0	1	0	0	0	17446	759	27	1	2109	1	XPO7	8	21848376	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	4236516	21848376	124515646	742	7764											
XPO7	23039	broad.mit.edu	37	chr8	21857142	21857142	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcctggaacctcacgtcatCatgtatattctctcttccat	5	13	5	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:21857142C>T	uc003xaa.3	+	24	2841	c.2739C>T	c.(2737-2739)ATC>ATT	p.I913I	XPO7_uc010lti.2_Silent_p.I922I|XPO7_uc010ltk.2_Silent_p.I914I	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	913					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CTCACGTCATCATGTATATTC	0.448													T	21857142	C	T	21857142	2	4	8	1	0	0	0	0	0	0	0	1	17446	816	29	4		4	XPO7	8	21857142	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	8766	21857142	124506880	743	7765											
EPB49	2039	broad.mit.edu	37	chr8	21926552	21926553	+	Frame_Shift_Ins	INS	-	-	C													ctgtcacccaaatccacatcINSccccccaccatccccagagg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:21926551_21926552T>TC	uc022asw.1	+	3	312_313	c.274_275T>TC	c.(274-276)tccfs	p.S92fs	EPB49_uc022asq.1_Frame_Shift_Ins_p.S92fs|EPB49_uc011kys.1_Intron|EPB49_uc022asr.1_Frame_Shift_Ins_p.S92fs|EPB49_uc022ass.1_Frame_Shift_Ins_p.S67fs|EPB49_uc022ast.1_Frame_Shift_Ins_p.S92fs|EPB49_uc022asu.1_Frame_Shift_Ins_p.S92fs|EPB49_uc022asv.1_Frame_Shift_Ins_p.S92fs|EPB49_uc022asx.1_Frame_Shift_Ins_p.S92fs|EPB49_uc022asy.1_Frame_Shift_Ins_p.S67fs	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	92					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		CAAATCCACATCCCCCCCACCA	0.604													C	21926553	-	C	21926552	7	5	8	1	0	1	1	0	0	0	0	0	5159	855	30	0	289	0	EPB49	8	21926552	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	69410	21926552	124437470	744	7766											
REEP4	80346	broad.mit.edu	37	chr8	21996976	21996976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggcaatgttgaggccccGcttcccgaagctgagcacgg	15	13	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:21996976G>A	uc003xau.1	-	5	823	c.370C>T	c.(370-372)CGG>TGG	p.R124W	REEP4_uc010ltt.1_Missense_Mutation_p.R124W|REEP4_uc011kyz.1_Missense_Mutation_p.R124W	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	124						integral to membrane				skin(1)	1				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		TTGAGGCCCCGCTTCCCGAAG	0.662													A	21996976	G	A	21996976	3	1	8	1	0	0	0	0	1	0	0	0	13207	1086	38	1	419	1	REEP4	8	21996976	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	70424	21996976	124367046	745	7767											
PIWIL2	55124	broad.mit.edu	37	chr8	22147407	22147407	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggggagaaacttttatgAccctacaagtgctatggtac	11	7	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:22147407A>G	uc003xbn.2	+	9	1182	c.1034A>G	c.(1033-1035)GAC>GGC	p.D345G	PIWIL2_uc011kzf.1_Missense_Mutation_p.D345G|PIWIL2_uc010ltv.2_Missense_Mutation_p.D345G	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2	345					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			skin(1)	1				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AACTTTTATGACCCTACAAGT	0.343													G	22147407	A	G	22147407	3	3	8	1	0	0	0	0	1	0	0	0	11958	275	10	3	1064	3	PIWIL2	8	22147407	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	150431	22147407	124216615	746	7768											
PIWIL2	55124	broad.mit.edu	37	chr8	22210726	22210726	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaataacaagctgtgagtgGtaagtgagcaaaatatgtag	11	4	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:22210726G>A	uc003xbn.2	+	21	2805	c.2657_splice	c.e21+1	p.W886_splice	PIWIL2_uc011kzf.1_Splice_Site_p.W886_splice|PIWIL2_uc010ltv.2_Splice_Site_p.W886_splice|PIWIL2_uc003xbo.2_Splice_Site_p.W40_splice	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2						DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			skin(1)	1				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GCTGTGAGTGGTAAGTGAGCA	0.413													A	22210726	G	A	22210726	5	1	8	1	0	0	0	0	0	0	1	0	11958	1275	44	4	2736	4	PIWIL2	8	22210726	Splice_Site	SNP	G	TCGA-BR-4201-01A-01D-1126-08	63319	22210726	124153296	747	7769											
KIAA1967	57805	broad.mit.edu	37	chr8	22463333	22463333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacccgcttccagggggacGcaacttctcaggtgatcact	10	14	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:22463333G>A	uc003xch.2	+	2	184	c.47G>A	c.(46-48)CGC>CAC	p.R16H	KIAA1967_uc003xci.2_Missense_Mutation_p.R16H|KIAA1967_uc003xcj.1_5'Flank	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	16					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCAGGGGGACGCAACTTCTCA	0.527													A	22463333	G	A	22463333	3	1	8	1	0	0	0	0	1	0	0	0	8265	1087	38	1	49	1	KIAA1967	8	22463333	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	252607	22463333	123900689	748	7770											
RHOBTB2	23221	broad.mit.edu	37	chr8	22864897	22864897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacggaacagggtacctacCgggcaggggtcgtgtgctgt	16	10	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:22864897C>T	uc003xcq.2	+	5	1676	c.1139C>T	c.(1138-1140)CCG>CTG	p.P380L	RHOBTB2_uc003xcp.2_Missense_Mutation_p.P402L|RHOBTB2_uc011kzp.1_Missense_Mutation_p.P387L|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	380	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GGGTACCTACCGGGCAGGGGT	0.617													T	22864897	C	T	22864897	3	4	8	1	0	0	0	0	1	0	0	0	13334	652	23	1	1238	1	RHOBTB2	8	22864897	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	401564	22864897	123499125	749	7771											
NEFL	4747	broad.mit.edu	37	chr8	24813156	24813156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggcgtcggtgttcttggCggcgctctcggtcagcacgg	16	13	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:24813156C>T	uc003xee.2	-	1	976	c.874G>A	c.(874-876)GCC>ACC	p.A292T		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	292	Rod.|Coil 2B.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GTGTTCTTGGCGGCGCTCTCG	0.632													T	24813156	C	T	24813156	3	4	8	1	0	0	0	0	1	0	0	0	10315	768	27	1	774	1	NEFL	8	24813156	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1948259	24813156	121550866	750	7772											
DPYSL2	1808	broad.mit.edu	37	chr8	26501484	26501484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggagacctccaggtcacGggcagtgcccattgcacgtt	13	12	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:26501484G>A	uc003xfb.1	+	10	1337	c.987G>A	c.(985-987)ACG>ACA	p.T329T	DPYSL2_uc003xfa.2_Silent_p.T434T|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Silent_p.T293T	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	329					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			large_intestine(1)	1		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TCCAGGTCACGGGCAGTGCCC	0.542													A	26501484	G	A	26501484	2	1	8	1	0	0	0	0	0	0	0	1	4747	1103	39	1		1	DPYSL2	8	26501484	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1688328	26501484	119862538	751	7773											
DPYSL2	1808	broad.mit.edu	37	chr8	26501587	26501587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactgaggagcggatgtccGtcatctgggacaaggctgtg	16	9	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:26501587G>A	uc003xfb.1	+	10	1440	c.1090G>A	c.(1090-1092)GTC>ATC	p.V364I	DPYSL2_uc003xfa.2_Missense_Mutation_p.V469I|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Missense_Mutation_p.V328I	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	364					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			large_intestine(1)	1		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GCGGATGTCCGTCATCTGGGA	0.582													A	26501587	G	A	26501587	3	1	8	1	0	0	0	0	1	0	0	0	4747	1145	40	1	1128	1	DPYSL2	8	26501587	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	103	26501587	119862435	752	7774											
PTK2B	2185	broad.mit.edu	37	chr8	27303434	27303434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcaaacgccacagcatgCgggtaagagggctctgcatg	12	11	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:27303434C>T	uc003xfn.1	+	29	3146	c.2338C>T	c.(2338-2340)CGG>TGG	p.R780W	PTK2B_uc003xfo.1_Missense_Mutation_p.R780W|PTK2B_uc003xfp.1_Missense_Mutation_p.R780W|PTK2B_uc003xfq.1_Intron	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	780				R -> G (in Ref. 2; AAB47217).	apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CCACAGCATGCGGGTAAGAGG	0.617													T	27303434	C	T	27303434	3	4	8	1	0	0	0	0	1	0	0	0	12763	759	27	1	2428	1	PTK2B	8	27303434	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	801847	27303434	119060588	753	7775											
KIF13B	23303	broad.mit.edu	37	chr8	29005050	29005050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcatacataagcctctggCgctccagtgcagatcgtttt	9	12	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:29005050C>T	uc003xhh.3	-	17	1942	c.1883G>A	c.(1882-1884)CGC>CAC	p.R628H	KIF13B_uc003xhj.2_Missense_Mutation_p.R525H	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	628	Potential.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AAGCCTCTGGCGCTCCAGTGC	0.453													T	29005050	C	T	29005050	3	4	8	1	0	0	0	0	1	0	0	0	8275	768	27	1	3693	1	KIF13B	8	29005050	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1701616	29005050	117358972	754	7776											
ADAM32	203102	broad.mit.edu	37	chr8	39068795	39068795	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccgaaaccagtctgtggCaatggcagattggagggaaa	13	8	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:39068795C>T	uc003xmt.3	+	12	1430	c.1185C>T	c.(1183-1185)GGC>GGT	p.G395G	ADAM32_uc011lch.1_Intron|ADAM32_uc003xmu.3_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	a disintegrin and metalloprotease domain 32	395	Disintegrin.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CAGTCTGTGGCAATGGCAGAT	0.338													T	39068795	C	T	39068795	2	4	8	1	0	0	0	0	0	0	0	1	249	697	25	2		2	ADAM32	8	39068795	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	10063745	39068795	107295227	755	7777											
ADAM18	8749	broad.mit.edu	37	chr8	39495209	39495209	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctacggccccatgacataGcatacttacttgtgtaagca	7	12	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:39495209G>T	uc003xni.2	+	9	814	c.814G>T	c.(814-816)GCA>TCA	p.A272S	ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.A248S	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	272	Peptidase M12B.|Extracellular (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CCATGACATAGCATACTTACT	0.338													T	39495209	G	T	39495209	3	4	8	1	0	0	0	0	1	0	0	0	239	971	34	5	848	5	ADAM18	8	39495209	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	426414	39495209	106868813	756	7778											
ANK1	286	broad.mit.edu	37	chr8	41550195	41550195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctccgggccacctccaCgaagttctcatgctgctcca	8	18	1	0	rs148942046	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:41550195C>T	uc003xok.2	-	31	3913	c.3829G>A	c.(3829-3831)GTG>ATG	p.V1277M	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.V593M|ANK1_uc003xoi.2_Missense_Mutation_p.V1277M|ANK1_uc003xoj.2_Missense_Mutation_p.V1277M|ANK1_uc003xol.2_Missense_Mutation_p.V1277M|ANK1_uc003xom.2_Missense_Mutation_p.V1318M	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1277					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCCACCTCCACGAAGTTCTCA	0.577													T	41550195	C	T	41550195	3	4	8	1	0	0	0	0	1	0	0	0	620	536	19	1	2190	1	ANK1	8	41550195	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2054986	41550195	104813827	757	7779											
AP3M2	10947	broad.mit.edu	37	chr8	42023047	42023047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctcctgatggaaacttcCgcctgctgtcttaccatgtc	7	15	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:42023047C>T	uc003xop.2	+	7	1063	c.772C>T	c.(772-774)CGC>TGC	p.R258C	AP3M2_uc003xoo.2_Missense_Mutation_p.R258C|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Missense_Mutation_p.R143C|AP3M2_uc003xor.1_Missense_Mutation_p.R258C	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	258	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			TGGAAACTTCCGCCTGCTGTC	0.453													T	42023047	C	T	42023047	3	4	8	1	0	0	0	0	1	0	0	0	748	652	23	1	790	1	AP3M2	8	42023047	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	472852	42023047	104340975	758	7780											
PRKDC	5591	broad.mit.edu	37	chr8	48690324	48690324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtctgagcggaaggcccGgagtgcgtgtaccatgatgc	17	9	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:48690324G>A	uc003xqi.2	-	85	12022	c.11965C>T	c.(11965-11967)CGG>TGG	p.R3989W	PRKDC_uc003xqj.2_Missense_Mutation_p.R3958W|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3989	PI3K/PI4K.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CGGAAGGCCCGGAGTGCGTGT	0.493								NHEJ					A	48690324	G	A	48690324	3	1	8	1	0	0	0	0	1	0	0	0	12521	1115	39	1	433	1	PRKDC	8	48690324	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	6667277	48690324	97673698	759	7781											
EFCAB1	79645	broad.mit.edu	37	chr8	49647682	49647682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttttggttaaggtgtccGtcagcttctgcagtttcttg	10	7	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:49647682G>A	uc003xqo.2	-	1	189	c.29C>T	c.(28-30)ACG>ATG	p.T10M	EFCAB1_uc003xqn.3_RNA|EFCAB1_uc011ldj.1_Missense_Mutation_p.T10M|EFCAB1_uc010lxx.2_RNA|EFCAB1_uc011ldk.1_RNA	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1 isoform a	10							calcium ion binding				0		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TAAGGTGTCCGTCAGCTTCTG	0.612													A	49647682	G	A	49647682	3	1	8	1	0	0	0	0	1	0	0	0	4933	1145	40	1	630	1	EFCAB1	8	49647682	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	957358	49647682	96716340	760	7782											
PXDNL	137902	broad.mit.edu	37	chr8	52321554	52321554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcatagactgaatccaccGtcgcagagggacggccgctg	14	12	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:52321554G>A	uc003xqu.3	-	17	2731	c.2630C>T	c.(2629-2631)ACG>ATG	p.T877M	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	877					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGAATCCACCGTCGCAGAGGG	0.662													A	52321554	G	A	52321554	3	1	8	1	0	0	0	0	1	0	0	0	12848	1145	40	1	1789	1	PXDNL	8	52321554	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2673872	52321554	94042468	761	7783											
PXDNL	137902	broad.mit.edu	37	chr8	52321594	52321594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacacgcggggctggagcGcgcgaagagcatgcagggcg	20	11	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:52321594G>A	uc003xqu.3	-	17	2691	c.2590C>T	c.(2590-2592)CGC>TGC	p.R864C	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	864					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGGCTGGAGCGCGCGAAGAGC	0.662													A	52321594	G	A	52321594	3	1	8	1	0	0	0	0	1	0	0	0	12848	1087	38	1	1829	1	PXDNL	8	52321594	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	40	52321594	94042428	762	7784											
NPBWR1	2831	broad.mit.edu	37	chr8	53853442	53853442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccagctgataacttgccgCgcggcagcctgactccccca	10	18	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:53853442C>T	uc011ldu.1	+	1	975	c.975C>T	c.(973-975)CGC>CGT	p.R325R		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	325	Cytoplasmic (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TAACTTGCCGCGCGGCAGCCT	0.692													T	53853442	C	T	53853442	2	4	8	1	0	0	0	0	0	0	0	1	10568	755	27	1		1	NPBWR1	8	53853442	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1531848	53853442	92510580	763	7785											
RP1	6101	broad.mit.edu	37	chr8	55533986	55533986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcatgccccgccccccaCggagcctagtggtcttcagg	12	18	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:55533986C>T	uc003xsd.1	+	2	608	c.460C>T	c.(460-462)CGG>TGG	p.R154W	RP1_uc011ldy.1_Missense_Mutation_p.R154W	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	154	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCGCCCCCCACGGAGCCTAGT	0.692													T	55533986	C	T	55533986	3	4	8	1	0	0	0	0	1	0	0	0	13532	527	19	1	462	1	RP1	8	55533986	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1680544	55533986	90830036	764	7786											
CHD7	55636	broad.mit.edu	37	chr8	61765392	61765392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttctgtgttacagaaccGcccgacctctcctccataat	5	17	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:61765392G>A	uc003xue.2	+	31	6585	c.6108G>A	c.(6106-6108)CCG>CCA	p.P2036P		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2036					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTACAGAACCGCCCGACCTCT	0.473													A	61765392	G	A	61765392	2	1	8	1	0	0	0	0	0	0	0	1	3330	1074	38	1		1	CHD7	8	61765392	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	6231406	61765392	84598630	765	7787											
CYP7B1	9420	broad.mit.edu	37	chr8	65528376	65528376	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attttataattttctctctaAtagacttgacatttcctaga	3	7	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:65528376A>G	uc003xvj.2	-	3	926	c.722T>C	c.(721-723)ATT>ACT	p.I241T		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	241					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TTTCTCTCTAATAGACTTGAC	0.328													G	65528376	A	G	65528376	3	3	8	1	0	0	0	0	1	0	0	0	4197	101	4	3	814	3	CYP7B1	8	65528376	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	3762984	65528376	80835646	766	7788											
CYP7B1	9420	broad.mit.edu	37	chr8	65528706	65528706	+	Frame_Shift_Del	DEL	T	T	-													gctcatcattcatgtcatgaTttttttgcaactgactgatg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:65528706delT	uc003xvj.2	-	3	596	c.392delA	c.(391-393)AATfs	p.N131fs		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	131					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				CATGTCATGATTTTTTTGCAA	0.323													-	65528706	T	-	65528706	7	5	8	1	0	1	0	1	0	0	0	0	4197	1493	52	0	1144	0	CYP7B1	8	65528706	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	330	65528706	80835316	767	7789											
ADHFE1	137872	broad.mit.edu	37	chr8	67369347	67369347	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacgtccccagcggtgttcActttcacggcccagatgttt	9	14	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:67369347A>G	uc003xwb.3	+	12	1142	c.1108A>G	c.(1108-1110)ACT>GCT	p.T370A	ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.T322A|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_RNA|ADHFE1_uc011les.1_Missense_Mutation_p.T300A	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	370					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AGCGGTGTTCACTTTCACGGC	0.483													G	67369347	A	G	67369347	3	3	8	1	0	0	0	0	1	0	0	0	314	159	6	3	1154	3	ADHFE1	8	67369347	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1840641	67369347	78994675	768	7790											
C8orf45	157777	broad.mit.edu	37	chr8	67789611	67789611	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtgctgaaattaacacatTtacctcccctgccaagttat	5	11	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:67789611T>G	uc003xwz.3	+	5	484	c.313T>G	c.(313-315)TTA>GTA	p.L105V	C8orf45_uc003xwv.2_Missense_Mutation_p.L105V|C8orf45_uc011lev.1_Missense_Mutation_p.L105V|C8orf45_uc011lew.1_Missense_Mutation_p.L36V|C8orf45_uc011lex.1_Intron|C8orf45_uc003xwy.3_Missense_Mutation_p.L105V	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	minichromosome maintenance complex	105					DNA replication		ATP binding|DNA binding			ovary(1)	1	Breast(64;0.186)		Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATTAACACATTTACCTCCCCT	0.299													G	67789611	T	G	67789611	3	3	8	1	0	0	0	0	1	0	0	0	2430	1838	64	5	327	5	C8orf45	8	67789611	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	420264	67789611	78574411	769	7791											
PREX2	80243	broad.mit.edu	37	chr8	68992721	68992722	+	Frame_Shift_Ins	INS	-	-	T													atgaacccctacttttccgtINStttttttcggatgaggaaat							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:68992720_68992721G>GT	uc003xxv.1	+	15	1712_1713	c.1685_1686G>GT	c.(1684-1686)cgtfs	p.R562fs	PREX2_uc003xxu.1_Frame_Shift_Ins_p.R562fs|PREX2_uc011lez.1_Frame_Shift_Ins_p.R497fs	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	562	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTACTTTTCCGTTTTTTTTCGG	0.332													T	68992722	-	T	68992721	7	5	8	1	0	1	1	0	0	0	0	0	12477	1712	60	0	1748	0	PREX2	8	68992721	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	1203110	68992721	77371301	770	7792											
NCOA2	10499	broad.mit.edu	37	chr8	71068296	71068296	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatctgtcttactgtccagTctctcaagtttgggggttat	11	8	4	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:71068296T>C	uc003xyn.1	-	11	2466	c.2304A>G	c.(2302-2304)AGA>AGG	p.R768R		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	768					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TACTGTCCAGTCTCTCAAGTT	0.398			T	RUNXBP2	AML								C	71068296	T	C	71068296	2	2	8	1	0	0	0	0	0	0	0	1	10229	1664	58	3		3	NCOA2	8	71068296	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	2075575	71068296	75295726	771	7793											
NCOA2	10499	broad.mit.edu	37	chr8	71068364	71068364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctttatctagcaaatagcGaagtagtgcattctctttct	6	8	4	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:71068364G>A	uc003xyn.1	-	11	2398	c.2236C>T	c.(2236-2238)CGC>TGC	p.R746C		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	746	LXXLL motif 3.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AGCAAATAGCGAAGTAGTGCA	0.448			T	RUNXBP2	AML								A	71068364	G	A	71068364	3	1	8	1	0	0	0	0	1	0	0	0	10229	1058	37	1	2210	1	NCOA2	8	71068364	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	68	71068364	75295658	772	7794											
TRPA1	8989	broad.mit.edu	37	chr8	72946564	72946564	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtagacctcaacaaagtTttcaaaattacctccaacat	3	11	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:72946564T>C	uc003xza.2	-	22	2779	c.2604A>G	c.(2602-2604)AAA>AAG	p.K868K	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	868	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	TCAACAAAGTTTTCAAAATTA	0.294													C	72946564	T	C	72946564	2	2	8	1	0	0	0	0	0	0	0	1	16574	1838	64	3		3	TRPA1	8	72946564	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	1878200	72946564	73417458	773	7795											
JPH1	56704	broad.mit.edu	37	chr8	75171672	75171672	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacagctctcgcgatgtcGcactcctggcgagcggccag	13	16	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:75171672G>A	uc003yae.2	-	3	1246	c.1206C>T	c.(1204-1206)TGC>TGT	p.C402C	JPH1_uc003yaf.2_Silent_p.C402C|JPH1_uc003yag.1_Silent_p.C266C	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	402	Ala-rich.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TCGCGATGTCGCACTCCTGGC	0.617													A	75171672	G	A	75171672	2	1	8	1	0	0	0	0	0	0	0	1	7960	1079	38	1		1	JPH1	8	75171672	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2225108	75171672	71192350	774	7796											
ZFHX4	79776	broad.mit.edu	37	chr8	77768354	77768354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacagcaagaacttgatcGtataaagaaagcttcagacg	10	8	1	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:77768354G>A	uc003yav.2	+	10	9449	c.9062G>A	c.(9061-9063)CGT>CAT	p.R3021H	ZFHX4_uc003yau.1_Missense_Mutation_p.R3066H|ZFHX4_uc003yaw.1_Missense_Mutation_p.R3021H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3021						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAACTTGATCGTATAAAGAAA	0.552										HNSCC(33;0.089)			A	77768354	G	A	77768354	3	1	8	1	0	0	0	0	1	0	0	0	17632	1145	40	1	9231	1	ZFHX4	8	77768354	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2596682	77768354	68595668	775	7797											
PSKH2	85481	broad.mit.edu	37	chr8	87060712	87060712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaaaagcgcagacagtggCgattctactatccttaagtt	8	9	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:87060712C>T	uc011lfy.1	-	3	1137	c.1137G>A	c.(1135-1137)TCG>TCA	p.S379S		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	379							ATP binding|protein serine/threonine kinase activity			stomach(2)|lung(2)|ovary(1)	5			STAD - Stomach adenocarcinoma(118;0.129)			CAGACAGTGGCGATTCTACTA	0.428													T	87060712	C	T	87060712	2	4	8	1	0	0	0	0	0	0	0	1	12665	755	27	1		1	PSKH2	8	87060712	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	9292358	87060712	59303310	776	7798											
RUNX1T1	862	broad.mit.edu	37	chr8	93026963	93026963	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagccagagaggaggaggaAgaagaggaaggcccattgct	16	6	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:93026963A>G	uc003yfd.2	-	3	396	c.312T>C	c.(310-312)TCT>TCC	p.S104S	RUNX1T1_uc003yfc.1_Silent_p.S77S|RUNX1T1_uc003yfe.1_Silent_p.S67S|RUNX1T1_uc010mao.2_Silent_p.S77S|RUNX1T1_uc011lgi.1_Silent_p.S115S|RUNX1T1_uc003yfh.1_Silent_p.S67S|RUNX1T1_uc003yfb.1_Silent_p.S67S|RUNX1T1_uc003yff.1_Silent_p.S67S|RUNX1T1_uc003yfg.1_Silent_p.S67S	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	104	Poly-Ser.				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)			AGGAGGAGGAAGAAGAGGAAG	0.547													G	93026963	A	G	93026963	2	3	8	1	0	0	0	0	0	0	0	1	13747	59	3	3		3	RUNX1T1	8	93026963	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	5966251	93026963	53337059	777	7799											
GEM	2669	broad.mit.edu	37	chr8	95272569	95272569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagaggaccagcttcggcGgcagtggtcctcaggggtag	17	10	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:95272569G>A	uc003ygj.2	-	2	412	c.163C>T	c.(163-165)CGC>TGC	p.R55C	GEM_uc003ygi.2_Missense_Mutation_p.R55C	NM_005261	NP_005252	P55040	GEM_HUMAN	GTP-binding mitogen-induced T-cell protein	55					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			lung(1)	1	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CAGCTTCGGCGGCAGTGGTCC	0.602													A	95272569	G	A	95272569	3	1	8	1	0	0	0	0	1	0	0	0	6329	1116	39	1	743	1	GEM	8	95272569	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2245606	95272569	51091453	778	7800											
INTS8	55656	broad.mit.edu	37	chr8	95892421	95892422	+	Frame_Shift_Ins	INS	-	-	A													gctggcagcgcagagaaggaINSaaaaaaagtttctccaagca							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:95892420_95892421G>GA	uc003yhb.3	+	26	3072_3073	c.2946_2947G>GA	c.(2944-2949)aggaaafs	p.R982fs	INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Frame_Shift_Ins_p.R792fs	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	982					snRNA processing	integrator complex	protein binding	p.K985fs*>11(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					CGCAGAGAAGGAAAAAAAAGTT	0.337													A	95892422	-	A	95892421	7	5	8	1	0	1	1	0	0	0	0	0	7784	247	9	0	3053	0	INTS8	8	95892421	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	619852	95892421	50471601	779	7801											
CCNE2	9134	broad.mit.edu	37	chr8	95900288	95900288	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtttccctatgaagtgtgTatacttcacatacctagaga	7	8	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:95900288T>C	uc003yhc.2	-	7	576	c.467A>G	c.(466-468)TAC>TGC	p.Y156C	CCNE2_uc003yhd.2_Missense_Mutation_p.Y156C	NM_057749	NP_477097	O96020	CCNE2_HUMAN	cyclin E2	156					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding				0	Breast(36;8.75e-07)					ATGAAGTGTGTATACTTCACA	0.279													C	95900288	T	C	95900288	3	2	8	1	0	0	0	0	1	0	0	0	2921	1638	57	3	771	3	CCNE2	8	95900288	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	7867	95900288	50463734	780	7802											
VPS13B	157680	broad.mit.edu	37	chr8	100568810	100568810	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaccagagaaggaaagtgtCtcaggaggggtggtaacaga	15	5	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:100568810C>T	uc003yiv.2	+	31	5064	c.4953C>T	c.(4951-4953)GTC>GTT	p.V1651V	VPS13B_uc003yiw.2_Silent_p.V1626V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1651					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGGAAAGTGTCTCAGGAGGGG	0.433													T	100568810	C	T	100568810	2	4	8	1	0	0	0	0	0	0	0	1	17187	900	32	4		4	VPS13B	8	100568810	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	4668522	100568810	45795212	781	7803											
VPS13B	157680	broad.mit.edu	37	chr8	100673594	100673595	+	Frame_Shift_Del	DEL	CT	CT	-													cactttagatcctgggaagaCtctgcctgaagcccttgatt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:100673593_100673594ACT>A	uc003yiv.3	+	34	6106_6107	c.5995_5996ACT>A	c.(5995-5997)actfs	p.T1999fs	VPS13B_uc003yiw.3_Frame_Shift_Del_p.T1974fs	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1999					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCCTGGGAAGACTCTGCCTGAA	0.356													-	100673595	CT	-	100673594	7	5	8	1	0	1	0	1	0	0	0	0	17187	565	20	0	6324	0	VPS13B	8	100673594	Frame_Shift_Del	DEL	CT	TCGA-BR-4201-01A-01D-1126-08	104784	100673594	45690428	782	7804											
RNF19A	25897	broad.mit.edu	37	chr8	101300355	101300355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagggtcagtgtttacacaCagcccttcattatatttaga	7	9	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:101300355C>T	uc003yjj.1	-	3	365	c.48G>A	c.(46-48)CTG>CTA	p.L16L	RNF19A_uc003yjk.1_Silent_p.L16L|RNF19A_uc003yjl.1_Silent_p.L16L	NM_015435	NP_056250	Q9NV58	RN19A_HUMAN	ring finger protein 19	16					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TGTTTACACACAGCCCTTCAT	0.368													T	101300355	C	T	101300355	2	4	8	1	0	0	0	0	0	0	0	1	13470	465	17	4		4	RNF19A	8	101300355	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	626761	101300355	45063667	783	7805											
UBR5	51366	broad.mit.edu	37	chr8	103358524	103358524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctccatcttcatcatcccGgctaagtaaattatttacag	4	11	4	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:103358524G>A	uc003ykr.1	-	7	709	c.676C>T	c.(676-678)CGG>TGG	p.R226W	UBR5_uc003yks.1_Missense_Mutation_p.R226W	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	226					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCATCATCCCGGCTAAGTAAA	0.423													A	103358524	G	A	103358524	3	1	8	1	0	0	0	0	1	0	0	0	16902	1115	39	1	7935	1	UBR5	8	103358524	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2058169	103358524	43005498	784	7806											
OXR1	55074	broad.mit.edu	37	chr8	107718844	107718844	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagataaatcttctggtgcGtcatcagaatctgtgcaaac	8	9	5	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:107718844G>A	uc011lht.1	+	8	1197	c.1098G>A	c.(1096-1098)GCG>GCA	p.A366A	OXR1_uc003ymf.2_Silent_p.A365A|OXR1_uc011lhu.1_Silent_p.A358A|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_Silent_p.A63A|OXR1_uc003ymg.1_Silent_p.A298A|OXR1_uc003ymi.1_Silent_p.A277A	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	366					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CTTCTGGTGCGTCATCAGAAT	0.418													A	107718844	G	A	107718844	2	1	8	1	0	0	0	0	0	0	0	1	11334	1132	40	1		1	OXR1	8	107718844	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4360320	107718844	38645178	785	7807											
PKHD1L1	93035	broad.mit.edu	37	chr8	110510979	110510979	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgagttacaatgccatcAgtggccttttggacatctca	8	10	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:110510979A>G	uc003yne.2	+	67	10911	c.10807A>G	c.(10807-10809)AGT>GGT	p.S3603G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3603	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAATGCCATCAGTGGCCTTTT	0.403										HNSCC(38;0.096)			G	110510979	A	G	110510979	3	3	8	1	0	0	0	0	1	0	0	0	11972	188	7	3	11073	3	PKHD1L1	8	110510979	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	2792135	110510979	35853043	786	7808											
CSMD3	114788	broad.mit.edu	37	chr8	113841970	113841970	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccatcgccaattgtcaaggTatcatagccaatctccagat	6	13	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:113841970T>C	uc003ynu.2	-	12	1963	c.1804A>G	c.(1804-1806)ACC>GCC	p.T602A	CSMD3_uc003ynt.2_Missense_Mutation_p.T562A|CSMD3_uc011lhx.1_Missense_Mutation_p.T498A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	602	Extracellular (Potential).|CUB 3.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ATTGTCAAGGTATCATAGCCA	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113841970	T	C	113841970	3	2	8	1	0	0	0	0	1	0	0	0	3946	1638	57	3	9559	3	CSMD3	8	113841970	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	3330991	113841970	32522052	787	7809											
TRPS1	7227	broad.mit.edu	37	chr8	116427198	116427198	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcattgctgcccctctGctgtttgttgagctgctcag	9	14	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:116427198G>A	uc003ynz.2	-	6	3358	c.2899C>T	c.(2899-2901)CAG>TAG	p.Q967*	TRPS1_uc011lhy.1_Nonsense_Mutation_p.Q971*|TRPS1_uc003yny.2_Nonsense_Mutation_p.Q980*|TRPS1_uc010mcy.2_Nonsense_Mutation_p.Q967*	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	967					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTGCCCCTCTGCTGTTTGTTG	0.473									Langer-Giedion_syndrome				A	116427198	G	A	116427198	4	1	8	1	0	0	0	0	0	1	0	0	16590	1328	46	2	950	2	TRPS1	8	116427198	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2585228	116427198	29936824	788	7810											
TRPS1	7227	broad.mit.edu	37	chr8	116599384	116599384	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggtcgcgccagatgggcGgcctccacattgggactatc	13	12	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:116599384G>A	uc003ynz.2	-	4	2964	c.2505C>T	c.(2503-2505)GCC>GCT	p.A835A	TRPS1_uc011lhy.1_Silent_p.A839A|TRPS1_uc003yny.2_Silent_p.A848A|TRPS1_uc010mcy.2_Silent_p.A835A	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	835					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CCAGATGGGCGGCCTCCACAT	0.617									Langer-Giedion_syndrome				A	116599384	G	A	116599384	2	1	8	1	0	0	0	0	0	0	0	1	16590	1103	39	1		1	TRPS1	8	116599384	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	172186	116599384	29764638	789	7811											
EIF3H	8667	broad.mit.edu	37	chr8	117658816	117658816	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcggctctggcgctgcatAttctcctgctggcgacgctg	12	15	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:117658816A>G	uc003yoa.2	-	7	881	c.855T>C	c.(853-855)AAT>AAC	p.N285N	EIF3H_uc003yob.2_Silent_p.N299N	NM_003756	NP_003747	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3,	285					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)					GGCGCTGCATATTCTCCTGCT	0.522													G	117658816	A	G	117658816	2	3	8	1	0	0	0	0	0	0	0	1	5018	446	16	3		3	EIF3H	8	117658816	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1059432	117658816	28705206	790	7812											
SLC30A8	169026	broad.mit.edu	37	chr8	118170036	118170036	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgattaccagatccaggcGactgtgatgatcatcgtttc	9	11	1	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:118170036G>A	uc003yoh.2	+	4	755	c.525G>A	c.(523-525)GCG>GCA	p.A175A	SLC30A8_uc010mcz.2_Silent_p.A126A|SLC30A8_uc011lia.1_Silent_p.A126A|SLC30A8_uc003yog.2_Silent_p.A126A	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	175	Extracellular (Potential).				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			ovary(2)|skin(2)	4	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			AGATCCAGGCGACTGTGATGA	0.557													A	118170036	G	A	118170036	2	1	8	1	0	0	0	0	0	0	0	1	14561	1045	37	1		1	SLC30A8	8	118170036	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	511220	118170036	28193986	791	7813											
SLC30A8	169026	broad.mit.edu	37	chr8	118184853	118184853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttacgatgcactcactcaCcattcagatggaatctccag	6	13	4	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:118184853C>T	uc003yoh.2	+	8	1273	c.1043C>T	c.(1042-1044)ACC>ATC	p.T348I	SLC30A8_uc010mcz.2_Missense_Mutation_p.T299I|SLC30A8_uc011lia.1_Missense_Mutation_p.T299I|SLC30A8_uc003yog.2_Missense_Mutation_p.T299I	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	348	Cytoplasmic (Potential).				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			ovary(2)|skin(2)	4	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CACTCACTCACCATTCAGATG	0.502													T	118184853	C	T	118184853	3	4	8	1	0	0	0	0	1	0	0	0	14561	507	18	4	1073	4	SLC30A8	8	118184853	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	14817	118184853	28179169	792	7814											
EXT1	2131	broad.mit.edu	37	chr8	118817060	118817060	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagttcatgagaatgtcctcAcaattggccaattggtccac	8	10	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:118817060A>G	uc003yok.1	-	10	2729	c.1956T>C	c.(1954-1956)TGT>TGC	p.C652C		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	652	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GAATGTCCTCACAATTGGCCA	0.443			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				G	118817060	A	G	118817060	2	3	8	1	0	0	0	0	0	0	0	1	5323	157	6	3		3	EXT1	8	118817060	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	632207	118817060	27546962	793	7815											
DEPDC6	64798	broad.mit.edu	37	chr8	120886177	120886177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagggagctggagcgcatgGctgaggtcttggtcaccggg	18	8	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:120886177G>A	uc003yow.3	+	1	278	c.91G>A	c.(91-93)GCT>ACT	p.A31T	DEPDC6_uc011lid.1_Missense_Mutation_p.A31T	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	DEP domain containing 6	31					intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding				0	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGAGCGCATGGCTGAGGTCTT	0.657													A	120886177	G	A	120886177	3	1	8	1	0	0	0	0	1	0	0	0	4443	1203	42	2	93	2	DEPDC6	8	120886177	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2069117	120886177	25477845	794	7816											
COL14A1	7373	broad.mit.edu	37	chr8	121256225	121256225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggatggcgaaggcgtcagCgtctccgctcctggaaaaac	13	12	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:121256225C>T	uc003yox.2	+	20	2722	c.2457C>T	c.(2455-2457)AGC>AGT	p.S819S	COL14A1_uc003yoy.2_Silent_p.S497S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	819	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGGCGTCAGCGTCTCCGCTC	0.488													T	121256225	C	T	121256225	2	4	8	1	0	0	0	0	0	0	0	1	3671	767	27	1		1	COL14A1	8	121256225	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	370048	121256225	25107797	795	7817											
HAS2	3037	broad.mit.edu	37	chr8	122627011	122627011	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcagtaaggcacttagatcGagctgtgtattttgttgcat	10	6	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:122627011G>A	uc003yph.2	-	4	1535	c.997C>T	c.(997-999)CGA>TGA	p.R333*		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	333	Cytoplasmic (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CACTTAGATCGAGCTGTGTAT	0.468													A	122627011	G	A	122627011	4	1	8	1	0	0	0	0	0	1	0	0	6962	1066	37	1	665	1	HAS2	8	122627011	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1370786	122627011	23737011	796	7818											
FAM83A	84985	broad.mit.edu	37	chr8	124221697	124221698	+	Frame_Shift_Ins	INS	-	-	A													aacaaaacaaaacaaaaacaINSaaaaaacaaacaacactttg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:124221696_124221697C>CA	uc003ypw.3	+	5	3078_3079	c.1064_1065C>CA	c.(1063-1065)acafs	p.T355fs	FAM83A_uc003ypy.3_Intron|FAM83A_uc003ypz.3_Frame_Shift_Ins_p.T355fs	NM_207006	NP_996889	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 2, mRNA.	0	Pro-rich.|Ser-rich.									breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AAAACAAAAACAAAAAAACAAA	0.356													A	124221698	-	A	124221697	7	5	8	1	0	1	1	0	0	0	0	0	5633	117	5	0	1355	0	FAM83A	8	124221697	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	1594686	124221697	22142325	797	7819											
KLHL38	340359	broad.mit.edu	37	chr8	124663889	124663889	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtctttggtctttcacagcGactgcggggtggagcacccc	13	12	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:124663889G>A	uc003yqs.1	-	1	1302	c.1278C>T	c.(1276-1278)GTC>GTT	p.V426V		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	kelch-like 38	426	Kelch 3.										0						CTTTCACAGCGACTGCGGGGT	0.552													A	124663889	G	A	124663889	2	1	8	1	0	0	0	0	0	0	0	1	8390	1045	37	1		1	KLHL38	8	124663889	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	442192	124663889	21700133	798	7820											
FAM91A1	157769	broad.mit.edu	37	chr8	124824810	124824810	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcccagtttttcaagtttgCtttcacagtcatcgtgtgct	8	10	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:124824810C>A	uc003yqv.2	+	24	2444	c.2383C>A	c.(2383-2385)CTT>ATT	p.L795I	FAM91A1_uc011lil.1_Missense_Mutation_p.L553I	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	795										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TTCAAGTTTGCTTTCACAGTC	0.383													A	124824810	C	A	124824810	3	1	8	1	0	0	0	0	1	0	0	0	5651	797	28	5	2477	5	FAM91A1	8	124824810	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	160921	124824810	21539212	799	7821											
FER1L6	654463	broad.mit.edu	37	chr8	125074138	125074138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgccactgagcatctgcGtggtggactggagagctttt	13	11	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:125074138G>A	uc003yqw.2	+	25	3399	c.3193G>A	c.(3193-3195)GTG>ATG	p.V1065M	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1065	Cytoplasmic (Potential).|C2 4.					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAGCATCTGCGTGGTGGACTG	0.557													A	125074138	G	A	125074138	3	1	8	1	0	0	0	0	1	0	0	0	5815	1145	40	1	3287	1	FER1L6	8	125074138	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	249328	125074138	21289884	800	7822											
MTSS1	9788	broad.mit.edu	37	chr8	125597329	125597329	+	Splice_Site	DEL	T	T	-													gcagaattttaggagttaccTttttttgctttcttctgcag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:125597328_125597328CT>C	uc003yrl.2	-	6	994	c.460_splice	c.e6+1	p.V154_splice	MTSS1_uc003yrj.2_Splice_Site_p.G154_splice|MTSS1_uc003yrk.2_Splice_Site_p.G154_splice	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	153	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TAGGAGTTACCTTTTTTTGCT	0.373													-	125597329	T	-	125597329	8	5	8	1	0	1	0	1	0	0	1	0	9962	1623	56	0	1844	0	MTSS1	8	125597329	Splice_Site	DEL	T	TCGA-BR-4201-01A-01D-1126-08	523191	125597329	20766693	801	7823											
TG	7038	broad.mit.edu	37	chr8	133899619	133899619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgtgaaaagcaaagggctCgcatgcaaagcctcatgggc	12	10	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:133899619C>T	uc003ytw.2	+	9	2043	c.2002C>T	c.(2002-2004)CGC>TGC	p.R668C		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	668	Thyroglobulin type-1 6.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCAAAGGGCTCGCATGCAAAG	0.557													T	133899619	C	T	133899619	3	4	8	1	0	0	0	0	1	0	0	0	15810	884	31	1	2036	1	TG	8	133899619	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	8302290	133899619	12464403	802	7824											
WISP1	8840	broad.mit.edu	37	chr8	134237718	134237718	+	Frame_Shift_Del	DEL	G	G	-													tgctccaccagctgcggcctGggggtctccactcggatctc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:134237718delG	uc003yub.2	+	4	772	c.696delG	c.(694-696)CTGfs	p.L232fs	WISP1_uc003yuc.2_Frame_Shift_Del_p.L145fs|WISP1_uc010meb.2_Frame_Shift_Del_p.L60fs|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	232	TSP type-1.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GCTGCGGCCTGGGGGTCTCCA	0.607													-	134237718	G	-	134237718	7	5	8	1	0	1	0	1	0	0	0	0	17369	1335	47	0	710	0	WISP1	8	134237718	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	338099	134237718	12126304	803	7825											
ZFAT	57623	broad.mit.edu	37	chr8	135649947	135649947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctcttcctcttcatgaCcaaaaactctacagaggaaa	5	13	4	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:135649947C>T	uc003yup.2	-	3	380	c.205G>A	c.(205-207)GTC>ATC	p.V69I	ZFAT_uc003yun.2_Missense_Mutation_p.V57I|ZFAT_uc003yuo.2_Missense_Mutation_p.V57I|ZFAT_uc010meh.2_Missense_Mutation_p.V57I|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.V57I|ZFAT_uc010mej.2_Missense_Mutation_p.V69I|ZFAT_uc003yur.2_Missense_Mutation_p.V57I	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	69					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTCTTCATGACCAAAAACTCT	0.522													T	135649947	C	T	135649947	3	4	8	1	0	0	0	0	1	0	0	0	17629	507	18	4	3582	4	ZFAT	8	135649947	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1412229	135649947	10714075	804	7826											
KHDRBS3	10656	broad.mit.edu	37	chr8	136594174	136594174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgtagtaccacgagggaCgccaactcccagaggagtcc	12	12	0	1	rs150971318		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:136594174C>T	uc003yuv.2	+	6	1059	c.665C>T	c.(664-666)ACG>ATG	p.T222M	KHDRBS3_uc003yuw.2_Missense_Mutation_p.T222M|KHDRBS3_uc010mek.2_RNA	NM_006558	NP_006549	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal	222	Interaction with SIAH1.			Missing: Complete loss of SIAH1-mediated degradation.	regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(2)	2	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			CCACGAGGGACGCCAACTCCC	0.557													T	136594174	C	T	136594174	3	4	8	1	0	0	0	0	1	0	0	0	8148	536	19	1	687	1	KHDRBS3	8	136594174	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	944227	136594174	9769848	805	7827											
EIF2C2	27161	broad.mit.edu	37	chr8	141567204	141567204	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctccaggggaaggtagGtgtgtttctgctcctgtccg	14	10	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:141567204G>C	uc003yvn.2	-	8	1050	c.1010C>G	c.(1009-1011)ACC>AGC	p.T337S	EIF2C2_uc010men.2_Missense_Mutation_p.T260S|EIF2C2_uc010meo.2_Missense_Mutation_p.T337S	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	337	PAZ.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			GGGAAGGTAGGTGTGTTTCTG	0.607													C	141567204	G	C	141567204	3	2	8	1	0	0	0	0	1	0	0	0	5006	1261	44	5	1617	5	EIF2C2	8	141567204	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4973030	141567204	4796818	806	7828											
DENND3	22898	broad.mit.edu	37	chr8	142186732	142186732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttctacttcggagaataCccactttaaaaatcagagtg	6	9	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:142186732C>T	uc003yvy.2	+	15	2616	c.2338C>T	c.(2338-2340)CCC>TCC	p.P780S	DENND3_uc010mep.2_Missense_Mutation_p.P741S	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	780										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCGGAGAATACCCACTTTAAA	0.468													T	142186732	C	T	142186732	3	4	8	1	0	0	0	0	1	0	0	0	4432	507	18	4	2392	4	DENND3	8	142186732	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	619528	142186732	4177290	807	7829											
EPPK1	83481	broad.mit.edu	37	chr8	144942358	144942358	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacggggtcgatgatgccGcccgtggcgatctgggcctc	16	13	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:144942358G>A	uc003zaa.1	-	1	5077	c.5064C>T	c.(5062-5064)GGC>GGT	p.G1688G		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1688	Plectin 29.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGATGATGCCGCCCGTGGCGA	0.672													A	144942358	G	A	144942358	2	1	8	1	0	0	0	0	0	0	0	1	5190	1074	38	1		1	EPPK1	8	144942358	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2755626	144942358	1421664	808	7830											
LRRC14	9684	broad.mit.edu	37	chr8	145745377	145745377	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagcatgcaggctgttatcCtggggctgactgcccggctc	14	12	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:145745377C>A	uc003zdk.1	+	2	414	c.268C>A	c.(268-270)CTG>ATG	p.L90M	RECQL4_uc003zdj.2_5'Flank|LRRC14_uc003zdl.1_Missense_Mutation_p.L90M|LRRC14_uc003zdo.2_5'Flank	NM_014665	NP_055480	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	90											0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGCTGTTATCCTGGGGCTGAC	0.647													A	145745377	C	A	145745377	3	1	8	1	0	0	0	0	1	0	0	0	8968	680	24	5	270	5	LRRC14	8	145745377	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	803019	145745377	618645	809	7831											
ARHGAP39	80728	broad.mit.edu	37	chr8	145771022	145771022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgatggacaccttccgcCggaagaggccctgcgtgtgc	15	13	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:145771022C>T	uc003zdt.1	-	7	2687	c.2132G>A	c.(2131-2133)CGG>CAG	p.R711Q	ARHGAP39_uc011llk.1_Missense_Mutation_p.R711Q|ARHGAP39_uc003zds.1_Missense_Mutation_p.R711Q	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	711					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						CACCTTCCGCCGGAAGAGGCC	0.612													T	145771022	C	T	145771022	3	4	8	1	0	0	0	0	1	0	0	0	884	652	23	1	1240	1	ARHGAP39	8	145771022	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	25645	145771022	593000	810	7832											
FOXD4	2298	broad.mit.edu	37	chr9	117619	117619	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctgggcggcccggctcGcgggggatcttgacgaagca	17	12	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:117619G>A	uc003zfz.2	-	1	799	c.501C>T	c.(499-501)CGC>CGT	p.R167R		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	167	Fork-head.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGCCCGGCTCGCGGGGGATCT	0.632													A	117619	G	A	117619	2	1	8	1	0	0	0	0	0	0	0	1	5999	1074	38	1		1	FOXD4	9	117619	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08		117619	141095812	811	7833											
KANK1	23189	broad.mit.edu	37	chr9	711075	711076	+	Frame_Shift_Ins	INS	-	-	C													gtgatgacaacaagcagtgcINScccaacttcctcatagccag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:711074_711075G>GC	uc003zgl.1	+	6	957_958	c.308_309G>GC	c.(307-309)tgcfs	p.C103fs	KANK1_uc003zgm.3_Frame_Shift_Ins_p.C103fs|KANK1_uc003zgn.1_Frame_Shift_Ins_p.C103fs|KANK1_uc003zgo.1_Frame_Shift_Ins_p.C103fs|KANK1_uc003zgp.1_Frame_Shift_Ins_p.C103fs|KANK1_uc003zgq.2_5'UTR|KANK1_uc003zgr.1_5'UTR|KANK1_uc003zgs.1_5'UTR	NM_015158	NP_055973	Q14678	KANK1_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.	103					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AACAAGCAGTGCCCCAACTTCC	0.51													C	711076	-	C	711075	7	5	8	1	0	1	1	0	0	0	0	0	7976	747	26	0	315	0	KANK1	9	711075	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	593456	711075	140502356	812	7834											
KANK1	23189	broad.mit.edu	37	chr9	711849	711849	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaccgtagaacagagcacGcagaggataaaggagttccg	14	8	0	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:711849G>A	uc003zgl.1	+	7	1732	c.1083G>A	c.(1081-1083)ACG>ACA	p.T361T	KANK1_uc003zgm.2_Silent_p.T361T|KANK1_uc003zgn.1_Silent_p.T361T|KANK1_uc003zgo.1_Silent_p.T361T|KANK1_uc003zgp.1_Silent_p.T361T|KANK1_uc003zgq.2_Silent_p.T203T|KANK1_uc003zgr.1_Silent_p.T203T|KANK1_uc003zgs.1_Silent_p.T203T	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	361	Potential.				negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AACAGAGCACGCAGAGGATAA	0.557													A	711849	G	A	711849	2	1	8	1	0	0	0	0	0	0	0	1	7976	1074	38	1		1	KANK1	9	711849	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	774	711849	140501582	813	7835											
DMRT3	58524	broad.mit.edu	37	chr9	990216	990216	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatacgctgtccagaaaaaCggaggcaaccccgagagccg	13	12	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:990216C>T	uc003zgw.1	+	2	668	c.630C>T	c.(628-630)AAC>AAT	p.N210N		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	210					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TCCAGAAAAACGGAGGCAACC	0.597													T	990216	C	T	990216	2	4	8	1	0	0	0	0	0	0	0	1	4587	535	19	1		1	DMRT3	9	990216	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	278367	990216	140223215	814	7836											
KIAA0020	9933	broad.mit.edu	37	chr9	2804408	2804409	+	Frame_Shift_Ins	INS	-	-	T													tccaatgtaggaatcaagctINStttcagtgcagctttgactt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:2804407_2804408C>CT	uc003zhp.1	-	17	1966_1967	c.1870_1871G>AG	c.(1870-1872)agcfs	p.S624fs	KIAA0020_uc003zhq.1_Frame_Shift_Ins_p.S623fs	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	624						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		AGGAATCAAGCTTTTCAGTGCA	0.381													T	2804409	-	T	2804408	7	5	8	1	0	1	1	0	0	0	0	0	8152	1609	56	0	80	0	KIAA0020	9	2804408	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	1814192	2804408	138409023	815	7837											
PTPRD	5789	broad.mit.edu	37	chr9	8518269	8518269	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgacactgtagcgtgtggtCgccaccccatcaatttcttt	9	13	2	0	rs137892356		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:8518269C>T	uc003zkk.2	-	20	1833	c.1122G>A	c.(1120-1122)GCG>GCA	p.A374A	PTPRD_uc003zkp.2_Silent_p.A374A|PTPRD_uc003zkq.2_Silent_p.A374A|PTPRD_uc003zkr.2_Silent_p.A368A|PTPRD_uc003zks.2_Silent_p.A364A|PTPRD_uc003zkl.2_Silent_p.A374A|PTPRD_uc003zkm.2_Silent_p.A361A|PTPRD_uc003zkn.2_Silent_p.A374A|PTPRD_uc003zko.2_Silent_p.A371A	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	374	Fibronectin type-III 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGCGTGTGGTCGCCACCCCAT	0.483										TSP Lung(15;0.13)			T	8518269	C	T	8518269	2	4	8	1	0	0	0	0	0	0	0	1	12799	871	31	1		1	PTPRD	9	8518269	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	5713861	8518269	132695162	816	7838											
FREM1	158326	broad.mit.edu	37	chr9	14789027	14789028	+	Frame_Shift_Del	DEL	GT	GT	-													tctgggaatccattgccccgGtgtgtgtgtatctcagcaag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:14789027_14789028delGT	uc003zlm.2	-	23	4656_4657	c.4066_4067delAC	c.(4066-4068)ACCfs	p.T1356fs	FREM1_uc010mic.2_Intron	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	1356	CSPG 9.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		CATTGCCCCGGTGTGTGTGTAT	0.52													-	14789028	GT	-	14789027	7	5	8	1	0	1	0	1	0	0	0	0	6044	1261	44	0	2582	0	FREM1	9	14789027	Frame_Shift_Del	DEL	GT	TCGA-BR-4201-01A-01D-1126-08	6270758	14789027	126424404	817	7839											
CNTLN	54875	broad.mit.edu	37	chr9	17394855	17394855	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggagaaatcacaccagtcAgcagacagagctaaatccga	9	10	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:17394855A>G	uc003zmz.2	+	15	2429	c.2403A>G	c.(2401-2403)TCA>TCG	p.S801S	CNTLN_uc003zmy.2_Silent_p.S801S|CNTLN_uc010mio.2_Silent_p.S480S	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	801						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		CACACCAGTCAGCAGACAGAG	0.428													G	17394855	A	G	17394855	2	3	8	1	0	0	0	0	0	0	0	1	3639	175	7	3		3	CNTLN	9	17394855	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	2605828	17394855	123818576	818	7840											
ACO1	48	broad.mit.edu	37	chr9	32431791	32431791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgagatccaggcagtggagCgtcagtatgtcatcccgggg	15	10	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:32431791C>T	uc003zqw.3	+	15	1956	c.1801C>T	c.(1801-1803)CGT>TGT	p.R601C	ACO1_uc010mjh.1_Missense_Mutation_p.R435C|ACO1_uc003zqx.3_Missense_Mutation_p.R601C|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	601					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GGCAGTGGAGCGTCAGTATGT	0.488											OREG0019130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	32431791	C	T	32431791	3	4	8	1	0	0	0	0	1	0	0	0	146	768	27	1	1855	1	ACO1	9	32431791	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	15036936	32431791	108781640	819	7841											
TAF1L	138474	broad.mit.edu	37	chr9	32633025	32633025	+	Frame_Shift_Del	DEL	T	T	-													tctgaatgggaaggaaaggcTttttttatatcttccattcg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:32633024_32633024CT>C	uc003zrg.1	-	0	2644	c.2554_2554AG>G	c.(2554-2556)gccfs	p.A852fs	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	852					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.A852fs*14(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAAGGAAAGGCTTTTTTTATA	0.443													-	32633025	T	-	32633025	7	5	8	1	0	1	0	1	0	0	0	0	15520	1606	56	0	2931	0	TAF1L	9	32633025	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	201234	32633025	108580406	820	7842											
UBAP2	55833	broad.mit.edu	37	chr9	33927811	33927811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacctgaggtcaccaagggCgcggccctgctactgctgct	12	14	1	1	rs144703983	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:33927811C>T	uc003ztq.1	-	20	2468	c.2355G>A	c.(2353-2355)GCG>GCA	p.A785A	UBAP2_uc011loc.1_Silent_p.A694A|UBAP2_uc011lod.1_Silent_p.A518A|UBAP2_uc011loe.1_Silent_p.A540A|UBAP2_uc011lof.1_Silent_p.A710A|UBAP2_uc011log.1_3'UTR|UBAP2_uc003ztn.1_Silent_p.A24A|UBAP2_uc003zto.1_Silent_p.A24A|UBAP2_uc003ztp.1_Silent_p.A24A	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	785										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCACCAAGGGCGCGGCCCTGC	0.642													T	33927811	C	T	33927811	2	4	8	1	0	0	0	0	0	0	0	1	16834	755	27	1		1	UBAP2	9	33927811	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1294786	33927811	107285620	821	7843											
C9orf131	138724	broad.mit.edu	37	chr9	35044408	35044408	+	Frame_Shift_Del	DEL	A	A	-													tgtggggacatacaaaagacAaaaaactcctgggcctctaa					rs150136527		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:35044407_35044407CA>C	uc003zvw.3	+	1	1810	c.1781_1781CA>C	c.(1780-1782)acafs	p.T594fs	C9orf131_uc003zvu.3_Frame_Shift_Del_p.T546fs|C9orf131_uc003zvv.3_Frame_Shift_Del_p.T521fs|C9orf131_uc003zvx.3_Frame_Shift_Del_p.T559fs	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	594										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ATACAAAAGACAAAAAACTCC	0.532													-	35044408	A	-	35044408	7	5	8	1	0	1	0	1	0	0	0	0	2457	117	5	0	1804	0	C9orf131	9	35044408	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	1116597	35044408	106169023	822	7844											
PIGO	84720	broad.mit.edu	37	chr9	35089116	35089116	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggccagaaatagctgCctgaaccaggagctcacagc	12	12	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:35089116C>T	uc003zwd.2	-	11	3639	c.3243G>A	c.(3241-3243)AGG>AGA	p.R1081R	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Silent_p.R664R|PIGO_uc003zwf.2_Silent_p.R664R|PIGO_uc003zwg.1_3'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	1081					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GAAATAGCTGCCTGAACCAGG	0.527													T	35089116	C	T	35089116	2	4	8	1	0	0	0	0	0	0	0	1	11894	738	26	2		2	PIGO	9	35089116	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	44708	35089116	106124315	823	7845											
PIGO	84720	broad.mit.edu	37	chr9	35095095	35095095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattgtcttccactatggcGtggctggcgaagttactacc	11	10	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:35095095G>A	uc003zwd.2	-	2	864	c.468C>T	c.(466-468)CAC>CAT	p.H156H	PIGO_uc003zwc.1_Silent_p.H156H|PIGO_uc003zwe.2_Silent_p.H156H|PIGO_uc003zwf.2_Silent_p.H156H|PIGO_uc003zwg.1_Translation_Start_Site	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	156					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCACTATGGCGTGGCTGGCGA	0.517													A	35095095	G	A	35095095	2	1	8	1	0	0	0	0	0	0	0	1	11894	1136	40	1		1	PIGO	9	35095095	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	5979	35095095	106118336	824	7846											
CREB3	10488	broad.mit.edu	37	chr9	35736505	35736506	+	Frame_Shift_Del	DEL	TG	TG	-													agtggttggacggctcagacTgtgtactccaggcccctggc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:35736504_35736505CTG>C	uc003zxv.3	+	8	1350_1351	c.897_898CTG>C	c.(895-900)gactgtfs	p.D299fs	CREB3_uc010mla.3_Frame_Shift_Del_p.D218fs	NM_006368	NP_006359	O43889	CREB3_HUMAN	Homo sapiens cAMP responsive element binding protein 3 (CREB3), mRNA.	323					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	Golgi apparatus|cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nucleus	CCR1 chemokine receptor binding|DNA binding|cAMP response element binding protein binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		ACGGCTCAGACTGTGTACTCCA	0.609											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	35736506	TG	-	35736505	7	5	8	1	0	1	0	1	0	0	0	0	3855	1580	55	0	932	0	CREB3	9	35736505	Frame_Shift_Del	DEL	TG	TCGA-BR-4201-01A-01D-1126-08	641410	35736505	105476926	825	7847											
GBA2	57704	broad.mit.edu	37	chr9	35738574	35738575	+	Frame_Shift_Ins	INS	-	-	T													ctggtctgcatagcctccatINStttcaatgagtccatcatgg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:35738573_35738574A>AT	uc011lpd.2	-	13	2520_2521	c.2021_2022T>AT	c.(2020-2022)aatfs	p.N674fs	GBA2_uc003zxw.3_Frame_Shift_Ins_p.N668fs|GBA2_uc003zxx.1_5'UTR|GBA2_uc011lpb.1_Frame_Shift_Ins_p.N668fs|GBA2_uc011lpc.1_Frame_Shift_Ins_p.N668fs	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	Homo sapiens glucosidase, beta (bile acid) 2 (GBA2), mRNA.	668					O-glycoside catabolic process|bile acid metabolic process|glucosylceramide catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CATAGCCTCCATTTTCAATGAG	0.515													T	35738575	-	T	35738574	7	5	8	1	0	1	1	0	0	0	0	0	6267	1493	52	0	800	0	GBA2	9	35738574	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	2069	35738574	105474857	826	7848											
TMEM8B	51754	broad.mit.edu	37	chr9	35842713	35842713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggagctccagctcaatgCggtactctttatggagagtg	12	10	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:35842713C>T	uc003zym.2	+	7	1293	c.278C>T	c.(277-279)GCG>GTG	p.A93V	TMEM8B_uc003zyk.2_Missense_Mutation_p.A93V|TMEM8B_uc003zyl.2_Missense_Mutation_p.A260V|TMEM8B_uc003zyn.2_Intron|TMEM8B_uc003zyo.2_Missense_Mutation_p.A93V	NM_001042589	NP_001036054	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B isoform a	93	Extracellular (Potential).				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			ovary(1)	1						CAGCTCAATGCGGTACTCTTT	0.617													T	35842713	C	T	35842713	3	4	8	1	0	0	0	0	1	0	0	0	16212	782	27	1	280	1	TMEM8B	9	35842713	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	104139	35842713	105370718	827	7849											
FBXO10	26267	broad.mit.edu	37	chr9	37537214	37537214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgcctcccttcccgtcccGgaagaggcacttgcggatga	12	15	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:37537214G>A	uc004aab.2	-	3	1361	c.1312C>T	c.(1312-1314)CGG>TGG	p.R438W	FBXO10_uc004aac.2_Missense_Mutation_p.R454W|FBXO10_uc004aad.2_Intron	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	F-box protein 10	438	PbH1 3.					ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)		TTCCCGTCCCGGAAGAGGCAC	0.582													A	37537214	G	A	37537214	3	1	8	1	0	0	0	0	1	0	0	0	5726	1115	39	1	1594	1	FBXO10	9	37537214	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1694501	37537214	103676217	828	7850											
TMEM2	23670	broad.mit.edu	37	chr9	74309467	74309467	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctgggtttctgctttatcAggtgactggaattgcacagg	13	8	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:74309467A>G	uc011lsa.1	-	21	4194	c.3654T>C	c.(3652-3654)CCT>CCC	p.P1218P	TMEM2_uc011lrz.1_Silent_p.P211P|TMEM2_uc010mos.2_Silent_p.P1155P|TMEM2_uc011lsb.1_RNA|TMEM2_uc004aik.2_Silent_p.P52P	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	1218						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CTGCTTTATCAGGTGACTGGA	0.348													G	74309467	A	G	74309467	2	3	8	1	0	0	0	0	0	0	0	1	16118	175	7	3		3	TMEM2	9	74309467	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	36772253	74309467	66903964	829	7851											
C9orf79	286234	broad.mit.edu	37	chr9	90502650	90502650	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcgtcttcagtctgtgTtgctcaggatccagagcagc	11	12	5	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:90502650T>C	uc004app.3	+	4	3283	c.3248T>C	c.(3247-3249)GTT>GCT	p.V1083A		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	1083						integral to membrane				ovary(3)	3						TCAGTCTGTGTTGCTCAGGAT	0.602													C	90502650	T	C	90502650	3	2	8	1	0	0	0	0	1	0	0	0	2497	1725	60	3	3262	3	C9orf79	9	90502650	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	16193183	90502650	50710781	830	7852											
S1PR3	1903	broad.mit.edu	37	chr9	91616512	91616512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagcttactggccatcGccatcgagcggcacttgaca	10	15	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:91616512G>A	uc004aqe.2	+	2	793	c.397G>A	c.(397-399)GCC>ACC	p.A133T		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	133	Helical; Name=3; (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						ACTGGCCATCGCCATCGAGCG	0.582											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	91616512	G	A	91616512	3	1	8	1	0	0	0	0	1	0	0	0	13795	1087	38	1	399	1	S1PR3	9	91616512	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1113862	91616512	49596919	831	7853											
C9orf129	445577	broad.mit.edu	37	chr9	96097723	96097723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagagccagggaagtaggCggaatccacgtggttggggc	18	7	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:96097723C>T	uc010mre.2	-	3	662	c.298G>A	c.(298-300)GCC>ACC	p.A100T		NM_001098808	NP_001092278	Q5T035	CI129_HUMAN	hypothetical protein LOC445577	100										ovary(1)	1						GGGAAGTAGGCGGAATCCACG	0.617													T	96097723	C	T	96097723	3	4	8	1	0	0	0	0	1	0	0	0	2456	768	27	1	304	1	C9orf129	9	96097723	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	4481211	96097723	45115708	832	7854											
FANCC	2176	broad.mit.edu	37	chr9	97869413	97869413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaggaagttgaggagaaGgtgcctgatcagctgttgtg	17	5	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:97869413G>A	uc004avh.2	-	14	1730	c.1468C>T	c.(1468-1470)CTT>TTT	p.L490F		NM_000136	NP_000127	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	490					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)	1		Acute lymphoblastic leukemia(62;0.138)				TTGAGGAGAAGGTGCCTGATC	0.592			D|Mis|N|F|S			AML|leukemia		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				A	97869413	G	A	97869413	3	1	8	1	0	0	0	0	1	0	0	0	5664	1000	35	4	216	4	FANCC	9	97869413	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1771690	97869413	43344018	833	7855											
ZNF782	158431	broad.mit.edu	37	chr9	99581109	99581109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcactgaaggctttcccgCactcaggacattcatagggt	9	12	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:99581109C>T	uc004awp.1	-	6	1477	c.1196G>A	c.(1195-1197)TGC>TAC	p.C399Y	ZNF782_uc011lup.1_Missense_Mutation_p.C267Y	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	399	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				GGCTTTCCCGCACTCAGGACA	0.428													T	99581109	C	T	99581109	3	4	8	1	0	0	0	0	1	0	0	0	18152	710	25	2	907	2	ZNF782	9	99581109	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1711696	99581109	41632322	834	7856											
TRIM14	9830	broad.mit.edu	37	chr9	100854204	100854204	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttacatttcagcaatagCgatcgctctggtgaggggct	12	9	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:100854204C>T	uc004ayd.2	-	5	798	c.780G>A	c.(778-780)TCG>TCA	p.S260S	TRIM14_uc004ayf.1_Silent_p.S167S|TRIM14_uc011luz.1_Silent_p.S38S|TRIM14_uc011lva.1_Silent_p.S41S|TRIM14_uc004ayg.1_Silent_p.S260S|TRIM14_uc004ayh.1_Silent_p.S260S|TRIM14_uc004ayi.1_Intron|TRIM14_uc004ayj.1_Silent_p.S167S	NM_033220	NP_150089	Q14142	TRI14_HUMAN	tripartite motif protein TRIM14 isoform alpha	260	B30.2/SPRY.					cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TCAGCAATAGCGATCGCTCTG	0.537													T	100854204	C	T	100854204	2	4	8	1	0	0	0	0	0	0	0	1	16486	755	27	1		1	TRIM14	9	100854204	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1273095	100854204	40359227	835	7857											
CORO2A	7464	broad.mit.edu	37	chr9	100887136	100887136	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctctcgctgggtcaacaGctcccggagccttcggatct	11	15	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:100887136G>A	uc004ayl.2	-	12	1764	c.1498C>T	c.(1498-1500)CTG>TTG	p.L500L	CORO2A_uc004aym.2_Silent_p.L500L|CORO2A_uc004ayk.2_Silent_p.L147L	NM_003389	NP_003380	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	500	Potential.				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			skin(2)|ovary(1)|pancreas(1)	4		Acute lymphoblastic leukemia(62;0.0559)				TGGGTCAACAGCTCCCGGAGC	0.567													A	100887136	G	A	100887136	2	1	8	1	0	0	0	0	0	0	0	1	3756	962	34	2		2	CORO2A	9	100887136	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	32932	100887136	40326295	836	7858											
INVS	27130	broad.mit.edu	37	chr9	103035322	103035322	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacaggaaaaatctcctcaTgaagcatgaacagttgagaa	9	7	2	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:103035322T>C	uc004bap.1	+	12	1960	c.1748T>C	c.(1747-1749)ATG>ACG	p.M583T	INVS_uc010mta.1_Missense_Mutation_p.M487T|INVS_uc011lve.1_Missense_Mutation_p.M487T|INVS_uc004bao.1_Missense_Mutation_p.M583T|INVS_uc004baq.1_Missense_Mutation_p.M487T|INVS_uc004bar.1_Missense_Mutation_p.M487T|INVS_uc010mtb.1_Missense_Mutation_p.M257T	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	583	IQ 1.				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				AATCTCCTCATGAAGCATGAA	0.493													C	103035322	T	C	103035322	3	2	8	1	0	0	0	0	1	0	0	0	7787	1464	51	3	1790	3	INVS	9	103035322	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	2148186	103035322	38178109	837	7859											
RNF20	56254	broad.mit.edu	37	chr9	104312994	104312994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagagcctacagttgaaagCacacttggatgaggctcgga	13	8	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:104312994C>T	uc004bbn.2	+	10	1289	c.1199C>T	c.(1198-1200)GCA>GTA	p.A400V		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	400					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CAGTTGAAAGCACACTTGGAT	0.493													T	104312994	C	T	104312994	3	4	8	1	0	0	0	0	1	0	0	0	13473	710	25	2	1233	2	RNF20	9	104312994	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1277672	104312994	36900437	838	7860											
CYLC2	1539	broad.mit.edu	37	chr9	105767799	105767799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaagagtctaagaaggacGccacgaaagatgccaagaaa	11	7	1	5			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:105767799G>A	uc004bbs.2	+	5	956	c.886G>A	c.(886-888)GCC>ACC	p.A296T		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	296	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)				taagaaggacgccacgaaaga	0.174													A	105767799	G	A	105767799	3	1	8	1	0	0	0	0	1	0	0	0	4142	1087	38	1	904	1	CYLC2	9	105767799	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1454805	105767799	35445632	839	7861											
ABCA1	19	broad.mit.edu	37	chr9	107645350	107645350	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttcttgatctgctgtaatgTtctcagaactttgcgcatgt	8	8	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:107645350T>A	uc004bcl.2	-	5	704	c.391A>T	c.(391-393)ACA>TCA	p.T131S	ABCA1_uc004bcm.2_Missense_Mutation_p.T71S	NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	131	Extracellular.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGCTGTAATGTTCTCAGAACT	0.458													A	107645350	T	A	107645350	3	1	8	1	0	0	0	0	1	0	0	0	28	1725	60	5	6578	5	ABCA1	9	107645350	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	1877551	107645350	33568081	840	7862											
CTNNAL1	8727	broad.mit.edu	37	chr9	111741587	111741587	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatccacacagaaattaactGctgcagttccattctcgcct	5	13	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:111741587G>A	uc004bdo.1	-	7	1117	c.1075C>T	c.(1075-1077)CAG>TAG	p.Q359*	CTNNAL1_uc010mts.1_Nonsense_Mutation_p.Q95*|CTNNAL1_uc010mtt.1_Nonsense_Mutation_p.Q359*|CTNNAL1_uc004bdp.1_Nonsense_Mutation_p.Q359*	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	catenin, alpha-like 1	359					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			ovary(1)	1				STAD - Stomach adenocarcinoma(157;0.0768)		GAAATTAACTGCTGCAGTTCC	0.398													A	111741587	G	A	111741587	4	1	8	1	0	0	0	0	0	1	0	0	4015	1328	46	2	1181	2	CTNNAL1	9	111741587	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4096237	111741587	29471844	841	7863											
WDR31	114987	broad.mit.edu	37	chr9	116079127	116079127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacacaataaggagatggCgtcaccaacagccagagaag	11	10	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:116079127C>T	uc004bhe.2	-	11	1258	c.1006G>A	c.(1006-1008)GCC>ACC	p.A336T	uc004bhb.2_5'Flank|WDR31_uc004bhc.2_Missense_Mutation_p.A335T|WDR31_uc004bhd.2_Missense_Mutation_p.A211T|WDR31_uc004bhf.2_RNA	NM_001012361	NP_001012361	Q8NA23	WDR31_HUMAN	WD repeat domain 31 isoform 1	336											0						AAGGAGATGGCGTCACCAACA	0.527													T	116079127	C	T	116079127	3	4	8	1	0	0	0	0	1	0	0	0	17283	768	27	1	101	1	WDR31	9	116079127	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	4337540	116079127	25134304	842	7864											
RGS3	5998	broad.mit.edu	37	chr9	116241776	116241776	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgtttccttaggtcagCtgaggctgtccattgatgcc	11	10	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:116241776C>A	uc004bhq.2	+	5	630	c.421C>A	c.(421-423)CTG>ATG	p.L141M	RGS3_uc004bhr.2_Missense_Mutation_p.L29M|RGS3_uc004bhs.2_Translation_Start_Site	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	141	C2.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						CTTAGGTCAGCTGAGGCTGTC	0.537													A	116241776	C	A	116241776	3	1	8	1	0	0	0	0	1	0	0	0	13306	796	28	5	518	5	RGS3	9	116241776	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	162649	116241776	24971655	843	7865											
TNC	3371	broad.mit.edu	37	chr9	117848173	117848173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcttctccgctgtagccctCgttgcagatgcagcggcccg	12	15	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:117848173C>T	uc004bjj.3	-	3	2199	c.1837G>A	c.(1837-1839)GAG>AAG	p.E613K	TNC_uc010mvf.2_Missense_Mutation_p.E613K	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	613	EGF-like 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CTGTAGCCCTCGTTGCAGATG	0.587													T	117848173	C	T	117848173	3	4	8	1	0	0	0	0	1	0	0	0	16267	893	31	1	4872	1	TNC	9	117848173	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1606397	117848173	23365258	844	7866											
PAPPA	5069	broad.mit.edu	37	chr9	119144763	119144763	+	Frame_Shift_Del	DEL	G	G	-													tgctgcacctccacagtgaaGaccaaaaaggtaggccagtg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:119144762_119144762AG>A	uc004bjn.3	+	20	5147	c.4766_4766AG>A	c.(4765-4767)aagfs	p.K1589fs	PAPPA_uc011lxq.2_Frame_Shift_Del_p.K964fs	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1589					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TCCACAGTGAAGACCAAAAAG	0.552													-	119144763	G	-	119144763	7	5	8	1	0	1	0	1	0	0	0	0	11432	933	33	0	4849	0	PAPPA	9	119144763	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	1296590	119144763	22068668	845	7867											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123253654	123253654	+	Frame_Shift_Del	DEL	T	T	-													acttgctcttgattgtgcaaTtttttattgctttcactcag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:123253653_123253653AT>A	uc004bkf.3	-	12	1595	c.1414_1414AT>T	c.(1414-1416)ttgfs	p.L472fs	CDK5RAP2_uc004bkg.3_Frame_Shift_Del_p.L472fs|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Frame_Shift_Del_p.L472fs|CDK5RAP2_uc004bki.3_Frame_Shift_Del_p.L271fs	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	472					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGATTGTGCAATTTTTTATTG	0.318													-	123253654	T	-	123253654	7	5	8	1	0	1	0	1	0	0	0	0	3146	1490	52	0	4372	0	CDK5RAP2	9	123253654	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	4108891	123253654	17959777	846	7868											
PTGS1	5742	broad.mit.edu	37	chr9	125140783	125140783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacttcctgctcactcacGggcgctggttctgggagttt	11	14	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:125140783G>A	uc004bmg.1	+	4	418	c.283G>A	c.(283-285)GGG>AGG	p.G95R	PTGS1_uc011lys.1_Missense_Mutation_p.G70R|PTGS1_uc010mwb.1_5'UTR|PTGS1_uc004bmf.1_Missense_Mutation_p.G95R|PTGS1_uc004bmh.1_5'UTR|PTGS1_uc011lyt.1_5'UTR	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	95					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|skin(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GCTCACTCACGGGCGCTGGTT	0.627													A	125140783	G	A	125140783	3	1	8	1	0	0	0	0	1	0	0	0	12755	1116	39	1	297	1	PTGS1	9	125140783	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1887129	125140783	16072648	847	7869											
OR1J2	26740	broad.mit.edu	37	chr9	125273386	125273386	+	Frame_Shift_Del	DEL	T	T	-													gaatgcatttctcagatgtaTttttttatattttttactga					rs145911830	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:125273385_125273385AT>A	uc011lyv.2	+	0	305	c.305_305AT>A	c.(304-306)tatfs	p.Y102fs	OR1J2_uc004bmj.2_Frame_Shift_Del_p.Y102fs	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TCTCAGATGTATTTTTTTATA	0.403													-	125273386	T	-	125273386	7	5	8	1	0	1	0	1	0	0	0	0	10960	1500	52	0	308	0	OR1J2	9	125273386	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	132603	125273386	15940045	848	7870											
ZBTB26	57684	broad.mit.edu	37	chr9	125681367	125681367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcgtagttctccaggtgacGaaacaccctggtacactttg	11	11	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:125681367G>A	uc004bnj.2	-	2	1059	c.847C>T	c.(847-849)CGT>TGT	p.R283C	ZBTB26_uc004bnk.2_Missense_Mutation_p.R283C	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	283	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCCAGGTGACGAAACACCCTG	0.463													A	125681367	G	A	125681367	3	1	8	1	0	0	0	0	1	0	0	0	17530	1058	37	1	482	1	ZBTB26	9	125681367	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	407981	125681367	15532064	849	7871											
LHX2	9355	broad.mit.edu	37	chr9	126777589	126777589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccgcttgcacttcgaggCgctgctgcagggcgagtacc	14	14	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:126777589C>T	uc004boe.1	+	3	1251	c.512C>T	c.(511-513)GCG>GTG	p.A171V	LHX2_uc010mwi.1_Missense_Mutation_p.A179V	NM_004789	NP_004780	P50458	LHX2_HUMAN	LIM homeobox protein 2	171						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CACTTCGAGGCGCTGCTGCAG	0.667													T	126777589	C	T	126777589	3	4	8	1	0	0	0	0	1	0	0	0	8771	768	27	1	522	1	LHX2	9	126777589	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1096222	126777589	14435842	850	7872											
ARPC5L	81873	broad.mit.edu	37	chr9	127637424	127637424	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgttactccagtggcaCgaaaaggtatgtgaacgctg	13	8	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:127637424C>T	uc004bpa.3	+	3	479	c.393C>T	c.(391-393)CAC>CAT	p.H131H	ARPC5L_uc011lzq.1_Silent_p.H79H	NM_030978	NP_112240	Q9BPX5	ARP5L_HUMAN	actin related protein 2/3 complex, subunit	131					regulation of actin filament polymerization	cytoplasm|cytoskeleton	actin binding				0						TCCAGTGGCACGAAAAGGTAT	0.507													T	127637424	C	T	127637424	2	4	8	1	0	0	0	0	0	0	0	1	975	535	19	1		1	ARPC5L	9	127637424	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	859835	127637424	13576007	851	7873											
FAM125B	89853	broad.mit.edu	37	chr9	129154437	129154437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacattcggatcatgggcCggaccaagcaggccccgcct	13	14	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:129154437C>T	uc004bqh.1	+	5	583	c.502C>T	c.(502-504)CGG>TGG	p.R168W	FAM125B_uc004bqg.1_Missense_Mutation_p.R168W|FAM125B_uc011lzy.1_Missense_Mutation_p.R153W|FAM125B_uc010mxd.2_Missense_Mutation_p.R161W|FAM125B_uc011lzz.1_Missense_Mutation_p.R161W	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	hypothetical protein LOC89853 isoform 1	168	MABP.				protein transport	late endosome membrane					0						GATCATGGGCCGGACCAAGCA	0.507													T	129154437	C	T	129154437	3	4	8	1	0	0	0	0	1	0	0	0	5428	643	23	1	520	1	FAM125B	9	129154437	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1517013	129154437	12058994	852	7874											
ZBTB34	403341	broad.mit.edu	37	chr9	129642791	129642791	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagagggcattggtacccGtacaatgagaggttgatctg	15	7	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:129642791G>A	uc004bqm.3	+	2	1198	c.1101G>A	c.(1099-1101)CCG>CCA	p.P367P		NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATTGGTACCCGTACAATGAGA	0.537													A	129642791	G	A	129642791	2	1	8	1	0	0	0	0	0	0	0	1	17534	1132	40	1		1	ZBTB34	9	129642791	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	488354	129642791	11570640	853	7875											
FAM129B	64855	broad.mit.edu	37	chr9	130271277	130271277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgcatgtggatctgggctCgctgcttgaacacggacgtg	14	12	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:130271277C>T	uc004brh.2	-	10	1497	c.1295G>A	c.(1294-1296)CGA>CAA	p.R432Q	FAM129B_uc004bri.2_Missense_Mutation_p.R419Q|FAM129B_uc004brj.3_Missense_Mutation_p.R432Q	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	432							protein binding				0						GATCTGGGCTCGCTGCTTGAA	0.637													T	130271277	C	T	130271277	3	4	8	1	0	0	0	0	1	0	0	0	5437	884	31	1	965	1	FAM129B	9	130271277	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	628486	130271277	10942154	854	7876											
ODF2	4957	broad.mit.edu	37	chr9	131221920	131221920	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagagcaccttgtggcgcacCcagtgtaactgtgacggtag	14	10	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:131221920C>A	uc011mbd.1	+	3	418	c.107C>A	c.(106-108)CCC>CAC	p.P36H	ODF2_uc011maz.1_Missense_Mutation_p.P36H|ODF2_uc011mba.1_5'UTR|ODF2_uc010myb.2_5'UTR|ODF2_uc011mbb.1_5'UTR|ODF2_uc011mbc.1_5'UTR|ODF2_uc004bva.2_5'UTR|ODF2_uc004bvb.2_5'UTR|ODF2_uc011mbe.1_5'UTR|ODF2_uc004bvc.2_5'UTR|ODF2_uc010myc.2_Missense_Mutation_p.P36H|ODF2_uc011mbf.1_Missense_Mutation_p.P36H|ODF2_uc004bvd.3_Missense_Mutation_p.P36H|ODF2_uc004bve.2_Missense_Mutation_p.P36H	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	36					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1						TGTGGCGCACCCAGTGTAACT	0.517													A	131221920	C	A	131221920	3	1	8	1	0	0	0	0	1	0	0	0	10827	623	22	5	113	5	ODF2	9	131221920	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	950643	131221920	9991511	855	7877											
WDR34	89891	broad.mit.edu	37	chr9	131396155	131396155	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccaagagctgagtctgCtggctgttgaactccagaca	12	11	1	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:131396155C>T	uc004bvq.1	-	9	1603	c.1479G>A	c.(1477-1479)CAG>CAA	p.Q493Q	WDR34_uc004bvs.1_Silent_p.Q484Q|WDR34_uc004bvr.1_Silent_p.Q465Q	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	WD repeat domain 34	493	WD 5.					cytoplasm				central_nervous_system(2)|skin(1)	3						GCTGAGTCTGCTGGCTGTTGA	0.562													T	131396155	C	T	131396155	2	4	8	1	0	0	0	0	0	0	0	1	17285	796	28	2		2	WDR34	9	131396155	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	174235	131396155	9817276	856	7878											
DOLK	22845	broad.mit.edu	37	chr9	131708027	131708027	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgtctatctgtgtagtgTatgcttccaggagggacaca	12	7	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:131708027T>C	uc004bwr.2	-	1	1986	c.1556A>G	c.(1555-1557)TAC>TGC	p.Y519C	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	dolichol kinase	519	Cytoplasmic (Potential).				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity				0						CTGTGTAGTGTATGCTTCCAG	0.473													C	131708027	T	C	131708027	3	2	8	1	0	0	0	0	1	0	0	0	4703	1638	57	3	64	3	DOLK	9	131708027	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	311872	131708027	9505404	857	7879											
SH3GLB2	56904	broad.mit.edu	37	chr9	131771036	131771036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcgccaatgagccagtcaGggtccatgccaggcaggctg	13	13	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:131771036G>A	uc004bwv.2	-	11	1261	c.1115C>T	c.(1114-1116)CCT>CTT	p.P372L	SH3GLB2_uc004bww.2_Missense_Mutation_p.P381L|SH3GLB2_uc004bwx.1_Missense_Mutation_p.P372L|SH3GLB2_uc011mbm.1_Missense_Mutation_p.P381L	NM_020145	NP_064530	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	372	SH3.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding				0						GAGCCAGTCAGGGTCCATGCC	0.602											OREG0003926	type=REGULATORY REGION|Gene=SH3GLB2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	131771036	G	A	131771036	3	1	8	1	0	0	0	0	1	0	0	0	14254	1000	35	4	76	4	SH3GLB2	9	131771036	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	63009	131771036	9442395	858	7880											
SH3GLB2	56904	broad.mit.edu	37	chr9	131777085	131777085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccccctccaggaagttgcGcaagggtgtgaggaagctga	15	10	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:131777085G>A	uc004bwv.2	-	4	579	c.433C>T	c.(433-435)CGC>TGC	p.R145C	SH3GLB2_uc004bww.2_Missense_Mutation_p.R145C|SH3GLB2_uc004bwx.1_Missense_Mutation_p.R145C|SH3GLB2_uc011mbm.1_Missense_Mutation_p.R145C	NM_020145	NP_064530	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	145	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding				0						AGGAAGTTGCGCAAGGGTGTG	0.572													A	131777085	G	A	131777085	3	1	8	1	0	0	0	0	1	0	0	0	14254	1087	38	1	786	1	SH3GLB2	9	131777085	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	6049	131777085	9436346	859	7881											
USP20	10868	broad.mit.edu	37	chr9	132630629	132630629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaactcggagcaagtggacGaggacgctgatgtggacact	14	9	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:132630629G>A	uc004bys.2	+	11	1247	c.1036G>A	c.(1036-1038)GAG>AAG	p.E346K	USP20_uc004byr.2_Missense_Mutation_p.E346K|USP20_uc004byt.1_Missense_Mutation_p.E346K	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	346					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)				GCAAGTGGACGAGGACGCTGA	0.667													A	132630629	G	A	132630629	3	1	8	1	0	0	0	0	1	0	0	0	17049	1059	37	1	1070	1	USP20	9	132630629	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	853544	132630629	8582802	860	7882											
LAMC3	10319	broad.mit.edu	37	chr9	133951290	133951290	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccaacaccagctacgcGcttctctggaatctgctgga	9	15	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:133951290G>A	uc004caa.1	+	21	3665	c.3567G>A	c.(3565-3567)GCG>GCA	p.A1189A		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	1189	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCAGCTACGCGCTTCTCTGGA	0.617													A	133951290	G	A	133951290	2	1	8	1	0	0	0	0	0	0	0	1	8616	1074	38	1		1	LAMC3	9	133951290	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1320661	133951290	7262141	861	7883											
NUP214	8021	broad.mit.edu	37	chr9	134074323	134074323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagtcctggctttggacaGggaggctctgtctttggtgg	16	8	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:134074323G>A	uc004cag.2	+	29	5553	c.5442G>A	c.(5440-5442)CAG>CAA	p.Q1814Q	NUP214_uc004cah.2_Silent_p.Q1804Q|NUP214_uc004cai.2_Silent_p.Q1244Q|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Silent_p.Q640Q|NUP214_uc011mcf.1_Silent_p.Q591Q|NUP214_uc010mzh.1_Silent_p.Q328Q|NUP214_uc010mzi.1_Silent_p.Q328Q	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	1814	Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GCTTTGGACAGGGAGGCTCTG	0.532			T	DEK|SET|ABL1	AML|T-ALL								A	134074323	G	A	134074323	2	1	8	1	0	0	0	0	0	0	0	1	10762	991	35	4		4	NUP214	9	134074323	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	123033	134074323	7139108	862	7884											
RAPGEF1	2889	broad.mit.edu	37	chr9	134459910	134459910	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggccaccattaccttcaTgatcttgatgaacttcaaga	6	11	3	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:134459910T>C	uc004cbc.2	-	20	2879	c.2749A>G	c.(2749-2751)ATG>GTG	p.M917V	RAPGEF1_uc004cbb.2_Missense_Mutation_p.M935V	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	917	Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		ATTACCTTCATGATCTTGATG	0.582													C	134459910	T	C	134459910	3	2	8	1	0	0	0	0	1	0	0	0	13043	1464	51	3	504	3	RAPGEF1	9	134459910	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	385587	134459910	6753521	863	7885											
SETX	23064	broad.mit.edu	37	chr9	135201786	135201786	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taattgtgaaatctgacaggCacaggtcttgagatggactg	12	6	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:135201786C>T	uc004cbk.2	-	10	5382	c.5199G>A	c.(5197-5199)GTG>GTA	p.V1733V	SETX_uc004cbj.2_Silent_p.V1352V|SETX_uc010mzt.2_Silent_p.V1352V	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	1733					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATCTGACAGGCACAGGTCTTG	0.358													T	135201786	C	T	135201786	2	4	8	1	0	0	0	0	0	0	0	1	14141	697	25	2		2	SETX	9	135201786	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	741876	135201786	6011645	864	7886											
TTF1	7270	broad.mit.edu	37	chr9	135251410	135251410	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcctctccttcactatcGtcttcataataaaagatgtc	4	11	4	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:135251410G>A	uc004cbl.2	-	11	2662	c.2610C>T	c.(2608-2610)GAC>GAT	p.D870D	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Silent_p.D355D	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	870					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CTTCACTATCGTCTTCATAAT	0.254													A	135251410	G	A	135251410	2	1	8	1	0	0	0	0	0	0	0	1	16715	1136	40	1		1	TTF1	9	135251410	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	49624	135251410	5962021	865	7887											
TTF1	7270	broad.mit.edu	37	chr9	135277202	135277202	+	Frame_Shift_Del	DEL	T	T	-													cctggtgattggactttttcTtttttttcttagacttgttt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:135277201_135277201CT>C	uc004cbl.3	-	1	1077	c.1008_1008AG>G	c.(1006-1008)aagfs	p.K336fs	TTF1_uc004cbm.3_Intron|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	336	Poly-Lys.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TGGACTTTTTCTTTTTTTTCT	0.507													-	135277202	T	-	135277202	7	5	8	1	0	1	0	1	0	0	0	0	16715	1609	56	0	1750	0	TTF1	9	135277202	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	25792	135277202	5936229	866	7888											
DDX31	64794	broad.mit.edu	37	chr9	135487481	135487481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctcatcttaccttttcaCgtgtgctttcctcttctttc	4	14	5	0	rs148432033		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:135487481C>T	uc004cbq.1	-	19	2454	c.2302G>A	c.(2302-2304)GTG>ATG	p.V768M	DDX31_uc010mzu.1_Missense_Mutation_p.V695M	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	768						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TACCTTTTCACGTGTGCTTTC	0.532													T	135487481	C	T	135487481	3	4	8	1	0	0	0	0	1	0	0	0	4356	536	19	1	261	1	DDX31	9	135487481	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	210279	135487481	5725950	867	7889											
C9orf96	169436	broad.mit.edu	37	chr9	136268949	136268949	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctggctgctgtccctgCtgggtgagctgggtgggcgc	17	11	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:136268949C>T	uc004cdk.2	+	15	1661	c.1600C>T	c.(1600-1602)CTG>TTG	p.L534L	C9orf96_uc004cdl.2_RNA	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	534							ATP binding|protein kinase activity			stomach(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCTGTCCCTGCTGGGTGAGCT	0.682													T	136268949	C	T	136268949	2	4	8	1	0	0	0	0	0	0	0	1	2508	796	28	2		2	C9orf96	9	136268949	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	781468	136268949	4944482	868	7890											
ADAMTS13	11093	broad.mit.edu	37	chr9	136320407	136320407	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcccctctcttggcagTgctctgtttcctgtggggat	10	14	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:136320407T>G	uc004cdv.3	+	25	3694	c.3250T>G	c.(3250-3252)TGC>GGC	p.C1084G	ADAMTS13_uc004cdp.3_Missense_Mutation_p.C311G|ADAMTS13_uc004cdt.1_Missense_Mutation_p.C1084G|ADAMTS13_uc004cdu.1_Missense_Mutation_p.C1053G|ADAMTS13_uc004cdw.3_Missense_Mutation_p.C1084G|ADAMTS13_uc004cdx.3_Missense_Mutation_p.C1053G|ADAMTS13_uc004cdz.3_Missense_Mutation_p.C754G|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.3_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1084	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)		CTCTTGGCAGTGCTCTGTTTC	0.473													G	136320407	T	G	136320407	3	3	8	1	0	0	0	0	1	0	0	0	258	1710	59	5	3348	5	ADAMTS13	9	136320407	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	51458	136320407	4893024	869	7891											
ADAMTSL2	9719	broad.mit.edu	37	chr9	136403509	136403509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgggaacaggacctgcaCgggcacgtccaagcggtacc	13	16	0	0	rs139661631		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:136403509C>T	uc011mdl.1	+	4	829	c.272C>T	c.(271-273)ACG>ATG	p.T91M	ADAMTSL2_uc004cei.2_Missense_Mutation_p.T91M	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN	ADAMTS-like 2 precursor	91	TSP type-1 1.				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		AGGACCTGCACGGGCACGTCC	0.652													T	136403509	C	T	136403509	3	4	8	1	0	0	0	0	1	0	0	0	275	536	19	1	282	1	ADAMTSL2	9	136403509	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	83102	136403509	4809922	870	7892											
VAV2	7410	broad.mit.edu	37	chr9	136637093	136637093	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcacctaccaggaggctgtcGaatttcttggcctctgtgat	10	11	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:136637093G>A	uc004ces.2	-	26	2257	c.2211C>T	c.(2209-2211)TTC>TTT	p.F737F	VAV2_uc004cer.2_Silent_p.F727F|VAV2_uc004cet.1_Silent_p.F276F	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	737	SH2.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGAGGCTGTCGAATTTCTTGG	0.602													A	136637093	G	A	136637093	2	1	8	1	0	0	0	0	0	0	0	1	17129	1049	37	1		1	VAV2	9	136637093	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	233584	136637093	4576338	871	7893											
CAMSAP1	157922	broad.mit.edu	37	chr9	138713422	138713422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcagcgtactgatggtttCgttaagcttctcgatggaaa	11	8	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:138713422C>T	uc004cgr.3	-	11	3085	c.3085G>A	c.(3085-3087)GAA>AAA	p.E1029K	CAMSAP1_uc004cgq.3_Missense_Mutation_p.E919K|CAMSAP1_uc010nbg.2_Missense_Mutation_p.E751K	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1029						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTGATGGTTTCGTTAAGCTTC	0.527													T	138713422	C	T	138713422	3	4	8	1	0	0	0	0	1	0	0	0	2611	893	31	1	1751	1	CAMSAP1	9	138713422	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2076329	138713422	2500009	872	7894											
NOTCH1	4851	broad.mit.edu	37	chr9	139391870	139391870	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcagcctcacgatgtcGtgatgcatgcgctcctgtgc	11	14	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:139391870G>A	uc004chz.2	-	34	6321	c.6321C>T	c.(6319-6321)CAC>CAT	p.H2107H		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2107	Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCACGATGTCGTGATGCATGC	0.672			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			A	139391870	G	A	139391870	2	1	8	1	0	0	0	0	0	0	0	1	10547	1136	40	1		1	NOTCH1	9	139391870	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	678448	139391870	1821561	873	7895											
TRAF2	7186	broad.mit.edu	37	chr9	139820309	139820309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaattcctacgtgcgggacGatgccatcttcatcaaggcc	10	12	3	1	rs142412558	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:139820309G>A	uc010nbu.2	+	12	1635	c.1462G>A	c.(1462-1464)GAT>AAT	p.D488N	TRAF2_uc004cjv.2_Missense_Mutation_p.D488N|TRAF2_uc011mek.1_Missense_Mutation_p.D477N|TRAF2_uc010nbw.2_Missense_Mutation_p.D463N	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	488	MATH.				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CGTGCGGGACGATGCCATCTT	0.597													A	139820309	G	A	139820309	3	1	8	1	0	0	0	0	1	0	0	0	16435	1058	37	1	1500	1	TRAF2	9	139820309	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	428439	139820309	1393122	874	7896											
PNPLA7	375775	broad.mit.edu	37	chr9	140356679	140356680	+	Frame_Shift_Ins	INS	-	-	G													gggtgctgtagctgtcgatgINSggggggcgcaggtactcgca							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:140356678_140356679T>TG	uc010ncj.1	-	30	3934_3935	c.3597_3598A>CA	c.(3595-3600)cccatcfs	p.P1199fs	PNPLA7_uc004cnd.1_Frame_Shift_Ins_p.P421fs|PNPLA7_uc004cne.1_Frame_Shift_Ins_p.P440fs|PNPLA7_uc011mfa.1_Frame_Shift_Ins_p.P582fs|PNPLA7_uc004cnf.2_Frame_Shift_Ins_p.P1174fs|NELF_uc004cna.3_5'Flank|NELF_uc004cnb.3_5'Flank|NELF_uc004cmz.3_5'Flank|NELF_uc011mez.2_5'Flank|NELF_uc004cnc.3_5'Flank|NELF_uc022bqi.1_5'Flank	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	1174					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TAGCTGTCGATGGGGGGGCGCA	0.649													G	140356680	-	G	140356679	7	5	8	1	0	1	1	0	0	0	0	0	12170	1335	47	0	451	0	PNPLA7	9	140356679	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	536370	140356679	856752	875	7897											
WDR85	92715	broad.mit.edu	37	chr9	140469211	140469211	+	Frame_Shift_Del	DEL	T	T	-													gcctggcccttaccttccagTtttcccagtggaccaatcta							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:140469210_140469210GT>G	uc004cnk.1	-	3	619	c.461_461AC>C	c.(460-462)actfs	p.T154fs	WDR85_uc004cnm.1_5'UTR|WDR85_uc022bqk.1_Non-coding_Transcript	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN	Homo sapiens WD repeat domain 85 (WDR85), mRNA.	154					peptidyl-diphthamide biosynthetic process from peptidyl-histidine					breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	8	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)		TTACCTTCCAGTTTTCCCAGT	0.562													-	140469211	T	-	140469211	7	5	8	1	0	1	0	1	0	0	0	0	17330	1725	60	0	922	0	WDR85	9	140469211	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	112532	140469211	744220	876	7898											
LARP4B	23185	broad.mit.edu	37	chr10	890939	890940	+	Frame_Shift_Ins	INS	-	-	T													gataagcagaattccaatgtINSttttttaagtacttctcggg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:890938_890939G>GT	uc001ifs.1	-	4	528_529	c.487_488C>AC	c.(487-489)acafs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	163	HTH La-type RNA-binding.						RNA binding|nucleotide binding	p.T163P(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GAATTCCAATGTTTTTTTAAGT	0.351													T	890940	-	T	890939	7	5	8	1	0	1	1	0	0	0	0	0	8631	1725	60	0	1781	0	LARP4B	10	890939	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08		890939	134643808	877	7899											
PFKP	5214	broad.mit.edu	37	chr10	3174596	3174597	+	Frame_Shift_Ins	INS	-	-	A													cgtggagcacctgacggagaINSaaatgaagaccaccatccag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:3174595_3174596G>GA	uc001igp.3	+	17	1948_1949	c.1872_1873G>GA	c.(1870-1875)gagaaafs	p.E624fs	PFKP_uc001igq.3_Frame_Shift_Ins_p.E616fs|PFKP_uc009xhr.3_Frame_Shift_Ins_p.E586fs|PFKP_uc009xht.3_Frame_Shift_Ins_p.E362fs|PFKP_uc009xhu.3_Frame_Shift_Ins_p.E130fs	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	624					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		ACCTGACGGAGAAAATGAAGAC	0.505													A	3174597	-	A	3174596	7	5	8	1	0	1	1	0	0	0	0	0	11766	247	9	0	1943	0	PFKP	10	3174596	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	2283657	3174596	132360151	878	7900											
KIN	22944	broad.mit.edu	37	chr10	7829837	7829837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccagcgtagcttctgcagCcccttggacttgatcctgtt	9	13	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:7829837C>T	uc001ijt.2	-	1	108	c.60G>A	c.(58-60)GGG>GGA	p.G20G	KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Silent_p.G20G|KIN_uc010qba.1_5'UTR|ATP5C1_uc010qbb.1_5'Flank|ATP5C1_uc009xiq.1_5'Flank|ATP5C1_uc010qbc.1_5'Flank|ATP5C1_uc001iju.2_5'Flank|ATP5C1_uc001ijv.2_5'Flank	NM_012311	NP_036443	O60870	KIN17_HUMAN	HsKin17 protein	20					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						GCTTCTGCAGCCCCTTGGACT	0.612													T	7829837	C	T	7829837	2	4	8	1	0	0	0	0	0	0	0	1	8315	726	26	2		2	KIN	10	7829837	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	4655241	7829837	127704910	879	7901											
TAF3	83860	broad.mit.edu	37	chr10	8007484	8007484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgttcagccctgccacaGcctccagggtcccagccatg	9	18	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:8007484G>A	uc010qbd.1	+	3	2011	c.2011G>A	c.(2011-2013)GCC>ACC	p.A671T		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	671	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1						CCCTGCCACAGCCTCCAGGGT	0.423													A	8007484	G	A	8007484	3	1	8	1	0	0	0	0	1	0	0	0	15522	971	34	2	2021	2	TAF3	10	8007484	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	177647	8007484	127527263	880	7902											
UPF2	26019	broad.mit.edu	37	chr10	11998525	11998525	+	Splice_Site	DEL	A	A	-													tcgcatctgtctcaaaacctAaaaaaagagaattttgttca							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:11998524_11998524TA>T	uc001ila.3	-	12	2845	c.2371_splice	c.e12-1	p.V791_splice	UPF2_uc001ilb.3_Splice_Site_p.V791_splice|UPF2_uc001ilc.3_Splice_Site_p.V791_splice|UPF2_uc009xiz.2_Splice_Site_p.V791_splice	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	791	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCTCAAAACCTAAAAAAAGAG	0.328													-	11998525	A	-	11998525	8	5	8	1	0	1	0	1	0	0	1	0	17001	377	13	0		0	UPF2	10	11998525	Splice_Site	DEL	A	TCGA-BR-4201-01A-01D-1126-08	3991041	11998525	123536222	881	7903											
OPTN	10133	broad.mit.edu	37	chr10	13151192	13151192	+	Frame_Shift_Del	DEL	C	C	-													gtgaaagcacaggaaatggaCccccccacctggcccaccca							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:13151191_13151191AC>A	uc001ilu.1	+	3	507	c.69_69AC>A	c.(67-69)ggafs	p.G23fs	OPTN_uc001ilv.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ilw.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ilx.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ily.1_Frame_Shift_Del_p.G23fs|OPTN_uc010qbr.1_5'UTR	NM_001008213	NP_068815	Q96CV9	OPTN_HUMAN	Homo sapiens optineurin (OPTN), transcript variant 4, mRNA.	23					Golgi ribbon formation|Golgi to plasma membrane protein transport|cell death|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CAGGAAATGGACCCCCCCACC	0.562													-	13151192	C	-	13151192	7	5	8	1	0	1	0	1	0	0	0	0	10889	507	18	0	72	0	OPTN	10	13151192	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	1152667	13151192	122383555	882	7904											
FAM171A1	221061	broad.mit.edu	37	chr10	15255036	15255036	+	Frame_Shift_Del	DEL	G	G	-													gtgggcagatcttctctggtGggggctggctgctggctccg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:15255035_15255035TG>T	uc001iob.3	-	7	2559	c.2552_2552CA>A	c.(2551-2553)cacfs	p.H851fs		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	851						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCTTCTCTGGTGGGGGCTGGC	0.627													-	15255036	G	-	15255036	7	5	8	1	0	1	0	1	0	0	0	0	5490	1348	47	0	125	0	FAM171A1	10	15255036	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	2103844	15255036	120279711	883	7905											
FAM188A	80013	broad.mit.edu	37	chr10	15885239	15885239	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgccaagaagacttctcCgaagaaaacaggagcttctt	8	12	2	3	rs140140984		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:15885239C>T	uc001iod.1	-	3	428	c.207G>A	c.(205-207)TCG>TCA	p.S69S	FAM188A_uc001ioe.1_5'UTR|FAM188A_uc001iof.1_Silent_p.S69S	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	chromosome 10 open reading frame 97	69					apoptosis	nucleus	calcium ion binding			ovary(1)	1						AAGACTTCTCCGAAGAAAACA	0.323													T	15885239	C	T	15885239	2	4	8	1	0	0	0	0	0	0	0	1	5514	639	23	1		1	FAM188A	10	15885239	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	630203	15885239	119649508	884	7906											
CUBN	8029	broad.mit.edu	37	chr10	16949569	16949569	+	Frame_Shift_Del	DEL	A	A	-													atggcctggatccatccgtgAaaaaaatgactttcattgtg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:16949568_16949568GA>G	uc001ioo.3	-	48	7696	c.7644_7644TC>C	c.(7642-7644)ttcfs	p.F2548fs	CUBN_uc009xjq.1_Intron|CUBN_uc009xjr.1_Intron	NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2548	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATCCATCCGTGAAAAAAATGA	0.418													-	16949569	A	-	16949569	7	5	8	1	0	1	0	1	0	0	0	0	4051	246	9	0	3304	0	CUBN	10	16949569	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	1064330	16949569	118585178	885	7907											
NEBL	10529	broad.mit.edu	37	chr10	21141488	21141488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtacctgactttggaggaCggcattgcctttatggtgca	13	8	0	1	rs150518045	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:21141488C>T	uc001iqi.2	-	10	1391	c.994G>A	c.(994-996)GTC>ATC	p.V332I	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	332	Nebulin 9.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						CTTTGGAGGACGGCATTGCCT	0.493													T	21141488	C	T	21141488	3	4	8	1	0	0	0	0	1	0	0	0	10303	536	19	1	2126	1	NEBL	10	21141488	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	4191919	21141488	114393259	886	7908											
BMI1	648	broad.mit.edu	37	chr10	22618263	22618263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactctgggagtgacaaggCcaacagcccagcaggaggta	14	10	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:22618263C>T	uc001irh.2	+	10	1412	c.773C>T	c.(772-774)GCC>GTC	p.A258V	BMI1_uc009xkg.2_Missense_Mutation_p.A401V	NM_005180	NP_005171	P35226	BMI1_HUMAN	BMI1 polycomb ring finger oncogene	258	Pro/Ser-rich.				hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			ovary(1)|skin(1)	2						AGTGACAAGGCCAACAGCCCA	0.493													T	22618263	C	T	22618263	3	4	8	1	0	0	0	0	1	0	0	0	1455	739	26	2	807	2	BMI1	10	22618263	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1476775	22618263	112916484	887	7909											
KIAA1217	56243	broad.mit.edu	37	chr10	24833918	24833918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcccacagggctccagCggggccccacagacgagcag	12	17	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:24833918C>T	uc001iru.3	+	20	5623	c.5220C>T	c.(5218-5220)AGC>AGT	p.S1740S	KIAA1217_uc001irs.2_Silent_p.S1061S|KIAA1217_uc001irt.3_Silent_p.S1106S|KIAA1217_uc010qcy.1_Silent_p.S1171S|KIAA1217_uc010qcz.1_Silent_p.S1146S|KIAA1217_uc001irw.2_Silent_p.S890S|KIAA1217_uc001irz.2_Silent_p.S824S|KIAA1217_uc001irx.2_Silent_p.S1423S|KIAA1217_uc001iry.2_Silent_p.S864S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1740					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						AGGGCTCCAGCGGGGCCCCAC	0.607													T	24833918	C	T	24833918	2	4	8	1	0	0	0	0	0	0	0	1	8216	767	27	1		1	KIAA1217	10	24833918	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2215655	24833918	110700829	888	7910											
MYO3A	53904	broad.mit.edu	37	chr10	26414415	26414415	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggagaaacaattatacgAcccaatactgtagaaaaagc	8	7	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:26414415A>G	uc001isn.2	+	19	2352	c.1992A>G	c.(1990-1992)CGA>CGG	p.R664R	MYO3A_uc009xko.1_Silent_p.R664R|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	664	Myosin head-like.				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						CAATTATACGACCCAATACTG	0.418													G	26414415	A	G	26414415	2	3	8	1	0	0	0	0	0	0	0	1	10076	262	10	3		3	MYO3A	10	26414415	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1580497	26414415	109120332	889	7911											
GAD2	2572	broad.mit.edu	37	chr10	26506539	26506539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctattcttccttgcagCgcgagcctggtgccaagtgg	12	13	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:26506539C>T	uc001isp.2	+	2	580	c.77C>T	c.(76-78)GCG>GTG	p.A26V	GAD2_uc009xkr.2_Missense_Mutation_p.A26V|GAD2_uc001isq.2_Missense_Mutation_p.A26V	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	26					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Glutamic Acid(DB00142)	TTCCTTGCAGCGCGAGCCTGG	0.592													T	26506539	C	T	26506539	3	4	8	1	0	0	0	0	1	0	0	0	6180	782	27	1	83	1	GAD2	10	26506539	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	92124	26506539	109028208	890	7912											
ACBD5	91452	broad.mit.edu	37	chr10	27497331	27497331	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcacctccacttcccacCtgccggcccttggttccttc	5	21	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:27497331C>T	uc010qdp.1	-	10	1439	c.1248G>A	c.(1246-1248)CAG>CAA	p.Q416Q	ACBD5_uc010qdm.1_Silent_p.Q414Q|ACBD5_uc010qdn.1_Silent_p.Q307Q|ACBD5_uc010qdo.1_Silent_p.Q239Q|ACBD5_uc001ito.2_Silent_p.Q381Q|ACBD5_uc001itp.2_Silent_p.Q307Q|ACBD5_uc001itq.2_Silent_p.Q307Q|ACBD5_uc001itr.1_Silent_p.Q205Q	NM_145698	NP_663736	Q5T8D3	ACBD5_HUMAN	acyl-Coenzyme A binding domain containing 5	425					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding				0						CACTTCCCACCTGCCGGCCCT	0.512													T	27497331	C	T	27497331	2	4	8	1	0	0	0	0	0	0	0	1	125	680	24	4		4	ACBD5	10	27497331	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	990792	27497331	108037416	891	7913											
PTCHD3	374308	broad.mit.edu	37	chr10	27702350	27702350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgctgctcaggttgagcGttttgttcacctgccaggcg	13	10	2	2	rs147881350		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:27702350G>A	uc001itu.2	-	1	948	c.830C>T	c.(829-831)ACG>ATG	p.T277M		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	277					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						CAGGTTGAGCGTTTTGTTCAC	0.612													A	27702350	G	A	27702350	3	1	8	1	0	0	0	0	1	0	0	0	12734	1145	40	1	1489	1	PTCHD3	10	27702350	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	205019	27702350	107832397	892	7914											
MTPAP	55149	broad.mit.edu	37	chr10	30611528	30611528	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatatatataaaggagttcGgaacttgtcaaggcaatcct	8	8	1	0	rs139195646	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:30611528G>A	uc001iva.3	-	6	1074	c.1011C>T	c.(1009-1011)TCC>TCT	p.S337S	MTPAP_uc001ivb.3_Silent_p.S467S	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	PAP associated domain containing 1 precursor	337					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			ovary(1)	1						AAAGGAGTTCGGAACTTGTCA	0.378													A	30611528	G	A	30611528	2	1	8	1	0	0	0	0	0	0	0	1	9956	1103	39	1		1	MTPAP	10	30611528	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2909178	30611528	104923219	893	7915											
ZNF248	57209	broad.mit.edu	37	chr10	38121237	38121237	+	Frame_Shift_Del	DEL	C	C	-													cattgtaatcataagactttCcccccatgtgtactatttga					rs34731183		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:38121236_38121236TC>T	uc001izd.1	-	5	1546	c.1047_1047GA>A	c.(1045-1047)ggafs	p.G349fs	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_Frame_Shift_Del_p.G349fs	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CATAAGACTTTCCCCCCATGT	0.398													-	38121237	C	-	38121237	7	5	8	1	0	1	0	1	0	0	0	0	17790	855	30	0	697	0	ZNF248	10	38121237	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	7509709	38121237	97413510	894	7916											
ZNF33A	7581	broad.mit.edu	37	chr10	38343774	38343774	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatacacagaagagagagaAcgcagaagagaataactgtg	11	6	0	5			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:38343774A>G	uc001izh.2	+	5	897	c.719A>G	c.(718-720)AAC>AGC	p.N240S	ZNF33A_uc001izg.2_Missense_Mutation_p.N241S|ZNF33A_uc010qev.1_Missense_Mutation_p.N247S|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	240						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						AAGAGAGAGAACGCAGAAGAG	0.383													G	38343774	A	G	38343774	3	3	8	1	0	0	0	0	1	0	0	0	17851	43	2	3	736	3	ZNF33A	10	38343774	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	222537	38343774	97190973	895	7917											
OR13A1	79290	broad.mit.edu	37	chr10	45798942	45798942	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgacctccttgtttctcAaagtatagatgagggggttg	11	7	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:45798942A>G	uc001jcc.1	-	4	1238	c.929T>C	c.(928-930)TTG>TCG	p.L310S	OR13A1_uc001jcd.1_Missense_Mutation_p.L306S	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A,	310	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTTGTTTCTCAAAGTATAGAT	0.483													G	45798942	A	G	45798942	3	3	8	1	0	0	0	0	1	0	0	0	10933	131	5	3	61	3	OR13A1	10	45798942	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	7455168	45798942	89735805	896	7918											
MARCH8	220972	broad.mit.edu	37	chr10	45956826	45956826	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtggcagggggtgatcagGgggctctcatcatctccttc	14	11	4	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:45956826G>T	uc001jci.1	-	5	515	c.276C>A	c.(274-276)CCC>CCA	p.P92P	MARCH8_uc001jch.2_Silent_p.P374P|MARCH8_uc001jcj.1_Silent_p.P92P|MARCH8_uc001jck.1_Silent_p.P92P|MARCH8_uc001jcg.1_5'UTR	NM_001002266	NP_001002266	Q5T0T0	MARH8_HUMAN	cellular modulator of immune recognition isoform	92	RING-CH-type.					cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding				0						GGGTGATCAGGGGGCTCTCAT	0.582													T	45956826	G	T	45956826	2	4	8	1	0	0	0	0	0	0	0	1	9307	1219	43	5		5	MARCH8	10	45956826	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	157884	45956826	89577921	897	7919											
RBP3	5949	broad.mit.edu	37	chr10	48385926	48385926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctggagacctgggtgaGcagctcaccgtccccaaaca	11	15	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:48385926G>A	uc001jez.2	-	2	3280	c.3166C>T	c.(3166-3168)CTC>TTC	p.L1056F		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	1056	4 X approximate tandem repeats.|4.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	ACCTGGGTGAGCAGCTCACCG	0.512													A	48385926	G	A	48385926	3	1	8	1	0	0	0	0	1	0	0	0	13157	971	34	2	589	2	RBP3	10	48385926	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2429100	48385926	87148821	898	7920											
OGDHL	55753	broad.mit.edu	37	chr10	50959917	50959917	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagggtccgcttctcctcGctggagaactgcatcacacc	10	15	2	1	rs149339959		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:50959917G>A	uc001jie.2	-	6	847	c.705C>T	c.(703-705)AGC>AGT	p.S235S	OGDHL_uc009xog.2_Silent_p.S262S|OGDHL_uc010qgt.1_Silent_p.S178S|OGDHL_uc010qgu.1_Silent_p.S26S|OGDHL_uc009xoh.2_Silent_p.S26S	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	235					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						GCTTCTCCTCGCTGGAGAACT	0.607													A	50959917	G	A	50959917	2	1	8	1	0	0	0	0	0	0	0	1	10840	1078	38	1		1	OGDHL	10	50959917	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2573991	50959917	84574830	899	7921											
CSTF2T	23283	broad.mit.edu	37	chr10	53458059	53458059	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccatggcacgagtctccatCgctcgagaatctctaccacc	7	16	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:53458059C>T	uc001jjp.2	-	1	1297	c.1251G>A	c.(1249-1251)GCG>GCA	p.A417A	PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit	417	Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			ovary(1)	1				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GAGTCTCCATCGCTCGAGAAT	0.512													T	53458059	C	T	53458059	2	4	8	1	0	0	0	0	0	0	0	1	3985	871	31	1		1	CSTF2T	10	53458059	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2498142	53458059	82076688	900	7922											
ANK3	288	broad.mit.edu	37	chr10	61835822	61835822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttaagggcgtagcttccGtgactgctggagctctagcc	12	11	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:61835822G>A	uc001jky.2	-	37	5009	c.4817C>T	c.(4816-4818)ACG>ATG	p.T1606M	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1606	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CGTAGCTTCCGTGACTGCTGG	0.483													A	61835822	G	A	61835822	3	1	8	1	0	0	0	0	1	0	0	0	622	1145	40	1	8657	1	ANK3	10	61835822	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	8377763	61835822	73698925	901	7923											
ARID5B	84159	broad.mit.edu	37	chr10	63759914	63759914	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtactgccggtaccgctcGatgctgaaacgcatccagga	11	13	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:63759914G>A	uc001jlt.1	+	4	593	c.567G>A	c.(565-567)TCG>TCA	p.S189S	ARID5B_uc010qil.1_Silent_p.S189S	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	189					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					GGTACCGCTCGATGCTGAAAC	0.532													A	63759914	G	A	63759914	2	1	8	1	0	0	0	0	0	0	0	1	922	1045	37	1		1	ARID5B	10	63759914	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1924092	63759914	71774833	902	7924											
DDX50	79009	broad.mit.edu	37	chr10	70670982	70670982	+	Frame_Shift_Del	DEL	A	A	-													aaagaaatcaagaaacaattAaaaaaagccgctcaccaaag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:70670981_70670981TA>T	uc001jou.3	+	3	725	c.618_618TA>T	c.(616-618)attfs	p.I206fs	DDX50_uc001jot.3_Frame_Shift_Del_p.I206fs	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	206	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AAGAAACAATTAAAAAAAGCC	0.368													-	70670982	A	-	70670982	7	5	8	1	0	1	0	1	0	0	0	0	4368	363	13	0	633	0	DDX50	10	70670982	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	6911068	70670982	64863765	903	7925											
AIFM2	84883	broad.mit.edu	37	chr10	71880941	71880941	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccagtgctgcccgtggcCaggataagatgagagaaggg	17	9	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:71880941C>T	uc010qjg.1	-	3	334	c.321G>A	c.(319-321)CTG>CTA	p.L107L	AIFM2_uc001jqp.1_Silent_p.L107L	NM_032797	NP_116186	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor (AIF)-like	107					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)	1						TGCCCGTGGCCAGGATAAGAT	0.443													T	71880941	C	T	71880941	2	4	8	1	0	0	0	0	0	0	0	1	427	581	21	4		4	AIFM2	10	71880941	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1209959	71880941	63653806	904	7926											
NPFFR1	64106	broad.mit.edu	37	chr10	72025905	72025905	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtcactgacagccaggtTgaggatgaacatgttggtga	14	7	1	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:72025905T>C	uc010qjk.1	-	1	250	c.244A>G	c.(244-246)AAC>GAC	p.N82D		NM_022146	NP_071429	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	84	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	neuropeptide receptor activity				0						ACAGCCAGGTTGAGGATGAAC	0.562													C	72025905	T	C	72025905	3	2	8	1	0	0	0	0	1	0	0	0	10577	1812	63	3	1053	3	NPFFR1	10	72025905	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	144964	72025905	63508842	905	7927											
CDH23	64072	broad.mit.edu	37	chr10	73538008	73538008	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacggccgctacaccctgatCgtcactgccacagaccagtg	9	17	1	2	rs111033487	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:73538008C>T	uc001jrx.3	+	38	5507	c.5130C>T	c.(5128-5130)ATC>ATT	p.I1710I		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1710	Cadherin 16.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						ACACCCTGATCGTCACTGCCA	0.607													T	73538008	C	T	73538008	2	4	8	1	0	0	0	0	0	0	0	1	3108	874	31	1		1	CDH23	10	73538008	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1512103	73538008	61996739	906	7928											
ASCC1	51008	broad.mit.edu	37	chr10	73912658	73912658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctttcatatggactttggCgtaaagaacatccaccatgc	7	10	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:73912658C>T	uc001jst.1	-	8	907	c.799G>A	c.(799-801)GCC>ACC	p.A267T	ASCC1_uc001jsr.1_Missense_Mutation_p.A154T|ASCC1_uc001jss.1_Missense_Mutation_p.A239T|ASCC1_uc001jsu.1_Missense_Mutation_p.A239T|ASCC1_uc010qju.1_Missense_Mutation_p.A260T			Q8N9N2	ASCC1_HUMAN	RecName: Full=Activating signal cointegrator 1 complex subunit 1; AltName: Full=ASC-1 complex subunit p50; AltName: Full=Trip4 complex subunit p50;	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding				0						TGGACTTTGGCGTAAAGAACA	0.408													T	73912658	C	T	73912658	3	4	8	1	0	0	0	0	1	0	0	0	1031	768	27	1	374	1	ASCC1	10	73912658	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	374650	73912658	61622089	907	7929											
CBARA1	10367	broad.mit.edu	37	chr10	74268011	74268011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcatcagcaaatttttctCgttcctgggaaattttctat	5	9	4	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:74268011C>T	uc001jtb.1	-	7	693	c.560G>A	c.(559-561)CGA>CAA	p.R187Q	CBARA1_uc010qjw.1_5'UTR|CBARA1_uc010qjx.1_Intron|CBARA1_uc009xqo.1_RNA	NM_006077	NP_006068	Q9BPX6	MICU1_HUMAN	calcium binding atopy-related autoantigen 1	185					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			ovary(1)	1						AAATTTTTCTCGTTCCTGGGA	0.338													T	74268011	C	T	74268011	3	4	8	1	0	0	0	0	1	0	0	0	2696	884	31	1	904	1	CBARA1	10	74268011	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	355353	74268011	61266736	908	7930											
PLAU	5328	broad.mit.edu	37	chr10	75674570	75674570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaaggagggcaggtgtgCgcagccatcccggactatac	13	12	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:75674570C>T	uc001jwa.2	+	9	1012	c.866C>T	c.(865-867)GCG>GTG	p.A289V	C10orf55_uc001jvz.1_Intron|PLAU_uc010qkw.1_Missense_Mutation_p.A272V|PLAU_uc010qkx.1_Missense_Mutation_p.A203V|PLAU_uc001jwb.2_RNA|PLAU_uc001jwc.2_Missense_Mutation_p.A289V|PLAU_uc009xrq.1_Missense_Mutation_p.A253V	NM_002658	NP_002649	P00749	UROK_HUMAN	plasminogen activator, urokinase isoform 1	289	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(2)|kidney(1)	3	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	GGCAGGTGTGCGCAGCCATCC	0.552													T	75674570	C	T	75674570	3	4	8	1	0	0	0	0	1	0	0	0	12022	768	27	1	934	1	PLAU	10	75674570	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1406559	75674570	59860177	909	7931											
MYST4	23522	broad.mit.edu	37	chr10	76788343	76788343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccaaaaggaacaaagcGcggtctatctaagtggaggc	14	8	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:76788343G>A	uc001jwn.1	+	18	4254	c.3761G>A	c.(3760-3762)CGC>CAC	p.R1254H	MYST4_uc001jwo.1_Missense_Mutation_p.R962H|MYST4_uc001jwp.1_Missense_Mutation_p.R1071H	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1254					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					GGAACAAAGCGCGGTCTATCT	0.438			T	CREBBP	AML								A	76788343	G	A	76788343	3	1	8	1	0	0	0	0	1	0	0	0	10105	1087	38	1	3823	1	MYST4	10	76788343	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1113773	76788343	58746404	910	7932											
SFTPD	6441	broad.mit.edu	37	chr10	81701740	81701740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtttccagggactccacGctcaccagggacacctcgct	10	15	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:81701740G>A	uc001kbh.2	-	5	563	c.520C>T	c.(520-522)CGT>TGT	p.R174C	MBL1P_uc001kbf.2_Intron	NM_003019	NP_003010	P35247	SFTPD_HUMAN	pulmonary surfactant-associated protein D	174	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			skin(1)	1	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			GGGACTCCACGCTCACCAGGG	0.627													A	81701740	G	A	81701740	3	1	8	1	0	0	0	0	1	0	0	0	14193	1087	38	1	623	1	SFTPD	10	81701740	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4913397	81701740	53833007	911	7933											
NRG3	10718	broad.mit.edu	37	chr10	84711311	84711311	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggcatgttctgtgcagcaTtctacttcaaaagcaagtaa	9	8	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:84711311T>C	uc001kco.2	+	5	1168	c.1141T>C	c.(1141-1143)TTC>CTC	p.F381L	NRG3_uc010qlz.1_Missense_Mutation_p.F380L|NRG3_uc001kcp.2_Missense_Mutation_p.F160L|NRG3_uc001kcq.2_Missense_Mutation_p.F31L|NRG3_uc001kcr.2_Missense_Mutation_p.F31L	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	381	Helical; Note=Internal signal sequence; (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CTGTGCAGCATTCTACTTCAA	0.378													C	84711311	T	C	84711311	3	2	8	1	0	0	0	0	1	0	0	0	10649	1493	52	3	1327	3	NRG3	10	84711311	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	3009571	84711311	50823436	912	7934											
RGR	5995	broad.mit.edu	37	chr10	86014126	86014126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtccttcttcaacttcgCcatgcccctcttcatcacga	4	17	5	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:86014126C>T	uc001kdc.1	+	5	595	c.557C>T	c.(556-558)GCC>GTC	p.A186V	RGR_uc001kdd.1_Missense_Mutation_p.A190V|RGR_uc001kde.1_Missense_Mutation_p.A186V	NM_001012720	NP_001012738	P47804	RGR_HUMAN	retinal G-protein coupled receptor isoform 2	186	Helical; Name=5; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			ovary(1)	1						TTCAACTTCGCCATGCCCCTC	0.542													T	86014126	C	T	86014126	3	4	8	1	0	0	0	0	1	0	0	0	13291	739	26	2	587	2	RGR	10	86014126	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1302815	86014126	49520621	913	7935											
GRID1	2894	broad.mit.edu	37	chr10	87407104	87407104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcatatacagcagaatccCggacagtgccataagacatt	7	11	1	2	rs76097378	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:87407104C>T	uc001kdl.1	-	13	2149	c.2048G>A	c.(2047-2049)CGG>CAG	p.R683Q	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.R254Q|uc001kdm.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	683	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	AGCAGAATCCCGGACAGTGCC	0.527										Multiple Myeloma(13;0.14)			T	87407104	C	T	87407104	3	4	8	1	0	0	0	0	1	0	0	0	6771	652	23	1	997	1	GRID1	10	87407104	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1392978	87407104	48127643	914	7936											
PTEN	5728	broad.mit.edu	37	chr10	89653868	89653868	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atattgatgatgtagtaaggTaagaatgctttgattttcta	9	2	1	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:89653868T>C	uc001kfb.2	+	3	1195	c.164_splice	c.e3+2	p.R55_splice		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Y27fs*1(2)|p.?(2)|p.V54fs*29(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTAGTAAGGTAAGAATGCTT	0.299		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89653868	T	C	89653868	5	2	8	1	0	0	0	0	0	0	1	0	12738	1652	57	3	172	3	PTEN	10	89653868	Splice_Site	SNP	T	TCGA-BR-4201-01A-01D-1126-08	2246764	89653868	45880879	915	7937											
PTEN	5728	broad.mit.edu	37	chr10	89717770	89717770	+	Frame_Shift_Del	DEL	A	A	-													cacaaacagaacaagatgctAaaaaaggtttgtactttact					rs121913289		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:89717769_89717769TA>T	uc001kfb.3	+	6	1826	c.794_794TA>T	c.(793-795)ctafs	p.L265fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	265	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.M264fs*8(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.D268fs*30(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AACAAGATGCTAAAAAAGGTT	0.348		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89717770	A	-	89717770	7	5	8	1	0	1	0	1	0	0	0	0	12738	349	13	0	821	0	PTEN	10	89717770	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	63902	89717770	45816977	916	7938											
FAS	355	broad.mit.edu	37	chr10	90774042	90774042	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcaactgcttcgtaattgGcatcaacttcatggaaagaa	8	8	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:90774042G>A	uc001kfr.2	+	9	1189	c.843G>A	c.(841-843)TGG>TGA	p.W281*	FAS_uc010qna.1_RNA|FAS_uc001kfs.2_3'UTR|FAS_uc001kft.2_Nonsense_Mutation_p.W260*|FAS_uc010qnb.1_RNA|FAS_uc010qnc.1_RNA|FAS_uc001kfw.2_3'UTR|FAS_uc010qnd.1_RNA|FAS_uc010qne.1_RNA|FAS_uc009xtp.2_RNA	NM_000043	NP_000034	P25445	TNR6_HUMAN	tumor necrosis factor receptor superfamily,	281	Death.|Interaction with HIPK3 (By similarity).|Cytoplasmic (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			upper_aerodigestive_tract(1)|breast(1)	2		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		TTCGTAATTGGCATCAACTTC	0.368									Autoimmune_Lymphoproliferative_syndrome_type_I				A	90774042	G	A	90774042	4	1	8	1	0	0	0	0	0	1	0	0	5681	1212	42	2	877	2	FAS	10	90774042	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1056272	90774042	44760705	917	7939											
MYOF	26509	broad.mit.edu	37	chr10	95169361	95169361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcttatttgacagcatcCgccggctgttctttactttg	10	10	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:95169361C>T	uc001kin.2	-	6	692	c.569G>A	c.(568-570)CGG>CAG	p.R190Q	MYOF_uc001kio.2_Missense_Mutation_p.R190Q|MYOF_uc001kip.3_Missense_Mutation_p.R190Q|MYOF_uc009xuf.2_Missense_Mutation_p.R172Q	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	190	C2 2.|Cytoplasmic (Potential).|Necessary for interaction with EHD2.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						TGACAGCATCCGCCGGCTGTT	0.542													T	95169361	C	T	95169361	3	4	8	1	0	0	0	0	1	0	0	0	10089	652	23	1	5812	1	MYOF	10	95169361	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	4395319	95169361	40365386	918	7940											
SORBS1	10580	broad.mit.edu	37	chr10	97194450	97194450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttaacagcagaaatagagCgtgcgcgtaaagggtcggca	13	7	0	2	rs139115529		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:97194450C>T	uc001kkp.2	-	3	146	c.101G>A	c.(100-102)CGC>CAC	p.R34H	SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Missense_Mutation_p.R22H|SORBS1_uc001kko.2_Missense_Mutation_p.R34H|SORBS1_uc001kkq.2_Missense_Mutation_p.R34H|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Missense_Mutation_p.R34H|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Missense_Mutation_p.R34H|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Intron|SORBS1_uc001kkx.1_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	34					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGAAATAGAGCGTGCGCGTAA	0.473													T	97194450	C	T	97194450	3	4	8	1	0	0	0	0	1	0	0	0	14927	768	27	1	4090	1	SORBS1	10	97194450	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2025089	97194450	38340297	919	7941											
TLL2	7093	broad.mit.edu	37	chr10	98146799	98146799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcacacagcgatgctcgCacccgccgtgatctggccag	11	15	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:98146799C>T	uc001kml.1	-	14	1989	c.1763G>A	c.(1762-1764)TGC>TAC	p.C588Y		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	588	EGF-like 1; calcium-binding (Potential).			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCGATGCTCGCACCCGCCGTG	0.597													T	98146799	C	T	98146799	3	4	8	1	0	0	0	0	1	0	0	0	15943	710	25	2	1316	2	TLL2	10	98146799	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	952349	98146799	37387948	920	7942											
SLIT1	6585	broad.mit.edu	37	chr10	98760984	98760984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagccgaaggccctggcagCagccctggcctgggcacgag	15	15	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:98760984C>T	uc001kmw.2	-	37	4742	c.4490G>A	c.(4489-4491)TGC>TAC	p.C1497Y		NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	1497	CTCK.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCCCTGGCAGCAGCCCTGGCC	0.642													T	98760984	C	T	98760984	3	4	8	1	0	0	0	0	1	0	0	0	14739	710	25	2	118	2	SLIT1	10	98760984	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	614185	98760984	36773763	921	7943											
SLIT1	6585	broad.mit.edu	37	chr10	98816132	98816134	+	In_Frame_Del	DEL	TTG	TTG	-													ccttggcgaggctctggatcTtgttgtcatacagggagagc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:98816131_98816133CTTG>C	uc001kmw.2	-	12	1498_1500	c.1246_1248CAAG>G	c.(1246-1248)aag>G	p.K416del	SLIT1_uc009xvh.1_In_Frame_Del_p.K426del	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	416					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGCTCTGGATCTTGTTGTCATAC	0.596													-	98816134	TTG	-	98816132	7	5	8	1	0	1	0	1	0	0	0	0	14739	1609	56	0	3457	0	SLIT1	10	98816132	In_Frame_Del	DEL	TTG	TCGA-BR-4201-01A-01D-1126-08	55148	98816132	36718615	922	7944											
ARHGAP19	84986	broad.mit.edu	37	chr10	99019160	99019160	+	Splice_Site	DEL	T	T	-													tcttcccgtcaacactcacaTtttttggccacaggacatgg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:99019159_99019159AT>A	uc001knb.3	-	5	886	c.840_splice	c.e5+1	p.N280_splice	ARHGAP19_uc001kmy.3_Splice_Site|ARHGAP19_uc001kna.3_Splice_Site_p.N271_splice|ARHGAP19_uc009xvj.3_Splice_Site_p.N280_splice|ARHGAP19_uc009xvi.3_Splice_Site|ARHGAP19_uc009xvk.3_Splice_Site_p.N74_splice	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA.	280	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		CAACACTCACATTTTTTGGCC	0.448													-	99019160	T	-	99019160	8	5	8	1	0	1	0	1	0	0	1	0	869	1507	52	0	677	0	ARHGAP19	10	99019160	Splice_Site	DEL	T	TCGA-BR-4201-01A-01D-1126-08	203028	99019160	36515587	923	7945											
CRTAC1	55118	broad.mit.edu	37	chr10	99655720	99655720	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtccagcatcccgtctccGtcgaagtcggtcaccacacc	9	17	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:99655720G>A	uc001kou.1	-	10	1595	c.1239C>T	c.(1237-1239)GAC>GAT	p.D413D	CRTAC1_uc001kov.2_Silent_p.D402D|CRTAC1_uc001kot.1_Silent_p.D203D	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	413	FG-GAP 4; atypical.					proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TCCCGTCTCCGTCGAAGTCGG	0.582													A	99655720	G	A	99655720	2	1	8	1	0	0	0	0	0	0	0	1	3896	1136	40	1		1	CRTAC1	10	99655720	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	636560	99655720	35879027	924	7946											
TLX1	3195	broad.mit.edu	37	chr10	102896641	102896641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcgaccaaaatcactagcGtcacgtcggtggcgtcggcc	11	14	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:102896641G>A	uc001ksw.2	+	3	1202	c.964G>A	c.(964-966)GTC>ATC	p.V322I		NM_005521	NP_005512	P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	322						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AATCACTAGCGTCACGTCGGT	0.647			T	TRB@|TRD@	T-ALL								A	102896641	G	A	102896641	3	1	8	1	0	0	0	0	1	0	0	0	15956	1145	40	1	974	1	TLX1	10	102896641	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3240921	102896641	32638106	925	7947											
MGEA5	10724	broad.mit.edu	37	chr10	103563735	103563735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aataatcttagaaacctcttCgatggactctactggaattt	6	8	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:103563735C>T	uc001ktv.2	-	7	1236	c.793G>A	c.(793-795)GAA>AAA	p.E265K	MGEA5_uc010qqe.1_Missense_Mutation_p.E265K|MGEA5_uc009xws.2_Missense_Mutation_p.E265K|MGEA5_uc001ktw.2_Missense_Mutation_p.E265K|MGEA5_uc009xwt.2_Intron	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	265					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		GAAACCTCTTCGATGGACTCT	0.353													T	103563735	C	T	103563735	3	4	8	1	0	0	0	0	1	0	0	0	9555	893	31	1	1997	1	MGEA5	10	103563735	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	667094	103563735	31971012	926	7948											
LDB1	8861	broad.mit.edu	37	chr10	103868824	103868826	+	In_Frame_Del	DEL	TCT	TCT	-													ggcgaaggtgctagctgggcTcttcttcttgctgttgctgt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:103868823_103868825CTCT>C	uc009xwz.3	-	9	1309_1311	c.966_968AGAG>G	c.(964-969)aagagc>aaGc	p.S323del	LDB1_uc001kuk.4_In_Frame_Del_p.S287del|LDB1_uc001kul.3_In_Frame_Del_p.S287del	NM_001113407	NP_003884	Q86U70	LDB1_HUMAN	Homo sapiens LIM domain binding 1 (LDB1), transcript variant 1, mRNA.	323					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GCTAGCTGGGCTCTTCTTCTTGC	0.591													-	103868826	TCT	-	103868824	7	5	8	1	0	1	0	1	0	0	0	0	8695	1551	54	0	276	0	LDB1	10	103868824	In_Frame_Del	DEL	TCT	TCGA-BR-4201-01A-01D-1126-08	305089	103868824	31665923	927	7949											
NFKB2	4791	broad.mit.edu	37	chr10	104158163	104158163	+	Frame_Shift_Del	DEL	C	C	-													atgccattgtgttccggacaCccccctatcacaagatgaag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:104158162_104158162AC>A	uc001kvb.3	+	10	1138	c.873_873AC>A	c.(871-873)acafs	p.T291fs	NFKB2_uc001kva.3_Frame_Shift_Del_p.T291fs|NFKB2_uc010qqk.1_Frame_Shift_Del_p.T291fs|NFKB2_uc001kvd.3_Frame_Shift_Del_p.T291fs|NFKB2_uc009xxc.3_Frame_Shift_Del_p.T291fs	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.	291	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		TGTTCCGGACACCCCCCTATC	0.572			T	IGH@	B-NHL								-	104158163	C	-	104158163	7	5	8	1	0	1	0	1	0	0	0	0	10376	507	18	0	912	0	NFKB2	10	104158163	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	289339	104158163	31376584	928	7950											
NT5C2	22978	broad.mit.edu	37	chr10	104850727	104850727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatggaactgatgtctggaCgctcattgctactgctgtca	12	9	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:104850727C>T	uc001kwo.2	-	17	1424	c.1238G>A	c.(1237-1239)CGT>CAT	p.R413H	NT5C2_uc010qqp.1_Missense_Mutation_p.R384H|NT5C2_uc001kwq.2_Missense_Mutation_p.R413H|NT5C2_uc001kwp.2_Missense_Mutation_p.R260H	NM_012229	NP_036361	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	413					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding				0		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	GATGTCTGGACGCTCATTGCT	0.328													T	104850727	C	T	104850727	3	4	8	1	0	0	0	0	1	0	0	0	10687	536	19	1	459	1	NT5C2	10	104850727	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	692564	104850727	30684020	929	7951											
INA	9118	broad.mit.edu	37	chr10	105046873	105046873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgggaataccaggacttgCtcaatgtcaaaatggctctt	9	9	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:105046873C>T	uc001kws.2	+	2	1196	c.1147C>T	c.(1147-1149)CTC>TTC	p.L383F		NM_032727	NP_116116	Q16352	AINX_HUMAN	internexin neuronal intermediate filament	383	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			ovary(1)|breast(1)	2				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CCAGGACTTGCTCAATGTCAA	0.488													T	105046873	C	T	105046873	3	4	8	1	0	0	0	0	1	0	0	0	7730	797	28	2	1153	2	INA	10	105046873	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	196146	105046873	30487874	930	7952											
SORCS1	114815	broad.mit.edu	37	chr10	108431115	108431115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctttttgctcccatgataCatgcttccccctgtaagcag	6	14	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:108431115C>T	uc001kym.2	-	16	2077	c.2069G>A	c.(2068-2070)TGT>TAT	p.C690Y	SORCS1_uc001kyl.2_Missense_Mutation_p.C690Y|SORCS1_uc009xxs.2_Missense_Mutation_p.C690Y|SORCS1_uc001kyn.1_Missense_Mutation_p.C690Y|SORCS1_uc001kyo.2_Missense_Mutation_p.C690Y	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	690	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCCATGATACATGCTTCCCC	0.448													T	108431115	C	T	108431115	3	4	8	1	0	0	0	0	1	0	0	0	14930	478	17	4	1715	4	SORCS1	10	108431115	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	3384242	108431115	27103632	931	7953											
SORCS1	114815	broad.mit.edu	37	chr10	108439027	108439027	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttacctgtctccaggtgTtccctgcatctgaagagaca	8	12	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:108439027T>G	uc001kym.2	-	12	1735	c.1727A>C	c.(1726-1728)AAC>ACC	p.N576T	SORCS1_uc001kyl.2_Missense_Mutation_p.N576T|SORCS1_uc009xxs.2_Missense_Mutation_p.N576T|SORCS1_uc001kyn.1_Missense_Mutation_p.N576T|SORCS1_uc001kyo.2_Missense_Mutation_p.N576T	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	576	Lumenal (Potential).|BNR 4.					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCTCCAGGTGTTCCCTGCATC	0.398													G	108439027	T	G	108439027	3	3	8	1	0	0	0	0	1	0	0	0	14930	1725	60	5	2073	5	SORCS1	10	108439027	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	7912	108439027	27095720	932	7954											
HABP2	3026	broad.mit.edu	37	chr10	115338458	115338458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggacagtcaaccagcatgCgtgcctttactggaactccc	9	13	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:115338458C>T	uc001lai.3	+	7	744	c.641C>T	c.(640-642)GCG>GTG	p.A214V	HABP2_uc010qrz.1_RNA|HABP2_uc010qry.1_3'UTR	NM_004132	NP_004123	Q14520	HABP2_HUMAN	hyaluronan binding protein 2 preproprotein	214	Kringle.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		AACCAGCATGCGTGCCTTTAC	0.488													T	115338458	C	T	115338458	3	4	8	1	0	0	0	0	1	0	0	0	6938	768	27	1	667	1	HABP2	10	115338458	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	6899431	115338458	20196289	933	7955											
NRAP	4892	broad.mit.edu	37	chr10	115383370	115383370	+	Frame_Shift_Del	DEL	T	T	-													caaacccttttgctttctggTtttcccagctgctcttatac							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:115383369_115383369GT>G	uc001lal.3	-	22	2540	c.2376_2376AC>C	c.(2374-2376)aacfs	p.N792fs	NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Frame_Shift_Del_p.N792fs|NRAP_uc001lak.3_Frame_Shift_Del_p.N757fs	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	792						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTGCTTTCTGGTTTTCCCAGC	0.498													-	115383370	T	-	115383370	7	5	8	1	0	1	0	1	0	0	0	0	10638	1725	60	0	2897	0	NRAP	10	115383370	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	44912	115383370	20151377	934	7956											
VWA2	340706	broad.mit.edu	37	chr10	116021030	116021030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccaacaggaagtgaaggCaagaatcaagaggatggttt	12	6	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:116021030C>T	uc001lbl.1	+	5	668	c.347C>T	c.(346-348)GCA>GTA	p.A116V	VWA2_uc001lbk.1_Missense_Mutation_p.A116V|VWA2_uc009xyf.1_5'UTR	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	116	VWFA 1.					extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)		GAAGTGAAGGCAAGAATCAAG	0.463													T	116021030	C	T	116021030	3	4	8	1	0	0	0	0	1	0	0	0	17236	710	25	2	361	2	VWA2	10	116021030	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	637660	116021030	19513717	935	7957											
INPP5F	22876	broad.mit.edu	37	chr10	121583376	121583376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatcaccaagcaagccatGggatcggatttacccataat	8	11	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:121583376G>A	uc001leo.2	+	19	2377	c.2211G>A	c.(2209-2211)ATG>ATA	p.M737I	INPP5F_uc001lep.2_Missense_Mutation_p.M127I	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	737							phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGCAAGCCATGGGATCGGATT	0.388													A	121583376	G	A	121583376	3	1	8	1	0	0	0	0	1	0	0	0	7758	1348	47	4	2285	4	INPP5F	10	121583376	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	5562346	121583376	13951371	936	7958											
TACC2	10579	broad.mit.edu	37	chr10	123844356	123844356	+	Frame_Shift_Del	DEL	C	C	-													ttcatgctggggtgccacatCccccccagggggagaacttg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:123844355_123844355TC>T	uc001lfv.3	+	3	2700	c.2340_2340TC>T	c.(2338-2340)catfs	p.H780fs	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Frame_Shift_Del_p.H780fs|TACC2_uc010qtv.2_Frame_Shift_Del_p.H780fs	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	780						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGGTGCCACATCCCCCCCAGG	0.642													-	123844356	C	-	123844356	7	5	8	1	0	1	0	1	0	0	0	0	15499	855	30	0	2351	0	TACC2	10	123844356	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	2260980	123844356	11690391	937	7959											
DMBT1	1755	broad.mit.edu	37	chr10	124380630	124380630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtgacaggtgtcgaggccGagtggaggtcctgtatcgag	18	7	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:124380630G>A	uc001lgk.1	+	41	5061	c.4955G>A	c.(4954-4956)CGA>CAA	p.R1652Q	DMBT1_uc001lgl.1_Missense_Mutation_p.R1642Q|DMBT1_uc001lgm.1_Missense_Mutation_p.R1024Q|DMBT1_uc009xzz.1_Missense_Mutation_p.R1652Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.R355Q|DMBT1_uc009yac.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1652	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTCGAGGCCGAGTGGAGGTC	0.557													A	124380630	G	A	124380630	3	1	8	1	0	0	0	0	1	0	0	0	4577	1058	37	1	5117	1	DMBT1	10	124380630	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	536274	124380630	11154117	938	7960											
CHST15	51363	broad.mit.edu	37	chr10	125801922	125801922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtccagataatcttccaCgggatagcggtctcgcagcc	12	12	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:125801922C>T	uc001lhl.2	-	3	1441	c.928G>A	c.(928-930)GTG>ATG	p.V310M	CHST15_uc001lhm.2_Missense_Mutation_p.V310M|CHST15_uc001lhn.2_Missense_Mutation_p.V310M|CHST15_uc010que.1_Missense_Mutation_p.V310M|CHST15_uc001lho.2_Missense_Mutation_p.V310M	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	310	Lumenal (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						TAATCTTCCACGGGATAGCGG	0.522													T	125801922	C	T	125801922	3	4	8	1	0	0	0	0	1	0	0	0	3403	536	19	1	777	1	CHST15	10	125801922	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1421292	125801922	9732825	939	7961											
MGMT	4255	broad.mit.edu	37	chr10	131506287	131506287	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttccccgtgccggctcttcAccatcccgttttccagcaag	8	17	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:131506287A>G	uc001lkh.2	+	3	373	c.347A>G	c.(346-348)CAC>CGC	p.H116R		NM_002412	NP_002403	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	85										ovary(1)|breast(1)	2		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		CCGGCTCTTCACCATCCCGTT	0.537								Direct_reversal_of_damage					G	131506287	A	G	131506287	3	3	8	1	0	0	0	0	1	0	0	0	9557	159	6	3	357	3	MGMT	10	131506287	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	5704365	131506287	4028460	940	7962											
EBF3	253738	broad.mit.edu	37	chr10	131639112	131639112	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaacagacacttactgccGtagggagagttagcggagga	13	7	0	2	rs147171591		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:131639112G>A	uc001lki.1	-	14	1589	c.1530C>T	c.(1528-1530)TAC>TAT	p.Y510Y		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	519	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		ACTTACTGCCGTAGGGAGAGT	0.507													A	131639112	G	A	131639112	2	1	8	1	0	0	0	0	0	0	0	1	4882	1140	40	1		1	EBF3	10	131639112	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	132825	131639112	3895635	941	7963											
NLRP6	171389	broad.mit.edu	37	chr11	281195	281195	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaaaaaggagctgccgggCgtgctggagacagaggtcac	16	9	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:281195C>T	uc010qvs.1	+	4	1461	c.1461C>T	c.(1459-1461)GGC>GGT	p.G487G	NLRP6_uc010qvt.1_Silent_p.G487G	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	487	NACHT.|LRR 1.					cytoplasm	ATP binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGCTGCCGGGCGTGCTGGAGA	0.612													T	281195	C	T	281195	2	4	8	1	0	0	0	0	0	0	0	1	10481	755	27	1		1	NLRP6	11	281195	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08		281195	134725321	942	7964											
ANO9	338440	broad.mit.edu	37	chr11	418746	418746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggatgacgaaggccaggcGgatggccaggaggaaccaga	18	8	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:418746G>A	uc001lpi.2	-	22	2189	c.2104C>T	c.(2104-2106)CGC>TGC	p.R702C	SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Missense_Mutation_p.R395C|ANO9_uc010qvv.1_Missense_Mutation_p.R558C	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	702	Extracellular (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						AAGGCCAGGCGGATGGCCAGG	0.607													A	418746	G	A	418746	3	1	8	1	0	0	0	0	1	0	0	0	704	1116	39	1	252	1	ANO9	11	418746	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	137551	418746	134587770	943	7965											
PTDSS2	81490	broad.mit.edu	37	chr11	487453	487453	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctttgttcccgcgcactttCttggctggtacctgaaggta	11	11	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:487453C>A	uc001lpj.2	+	6	780	c.604C>A	c.(604-606)CTT>ATT	p.L202I		NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	202	Extracellular (Potential).					integral to membrane					0		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	CGCGCACTTTCTTGGCTGGTA	0.637													A	487453	C	A	487453	3	1	8	1	0	0	0	0	1	0	0	0	12737	913	32	5	626	5	PTDSS2	11	487453	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	68707	487453	134519063	944	7966											
CDHR5	53841	broad.mit.edu	37	chr11	617603	617603	+	Frame_Shift_Del	DEL	G	G	-													ccgccagctcgggccgctgcGgggggctcaggggcaccgcc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:617603delG	uc001lqj.2	-	15	2391	c.2286delC	c.(2284-2286)CCCfs	p.P762fs	IRF7_uc009ycb.2_5'Flank|IRF7_uc010qwf.1_5'Flank|IRF7_uc001lqf.2_5'Flank|IRF7_uc010qwg.1_5'Flank|IRF7_uc001lqg.2_5'Flank|IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Frame_Shift_Del_p.P568fs|CDHR5_uc009ycc.2_Frame_Shift_Del_p.P596fs|CDHR5_uc009ycd.2_Frame_Shift_Del_p.P756fs|CDHR5_uc001lql.2_Frame_Shift_Del_p.P762fs	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	762	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						GGGCCGCTGCGGGGGGCTCAG	0.761													-	617603	G	-	617603	7	5	8	1	0	1	0	1	0	0	0	0	3122	1103	39	0	255	0	CDHR5	11	617603	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	130150	617603	134388913	945	7967											
TALDO1	6888	broad.mit.edu	37	chr11	763457	763457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctccccatttgttgggcGcatccttgattggcatgtgg	11	11	1	1	rs151052416		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:763457G>A	uc001lqz.2	+	5	625	c.575G>A	c.(574-576)CGC>CAC	p.R192H	TALDO1_uc001lra.2_Missense_Mutation_p.R192H	NM_006755	NP_006746	P37837	TALDO_HUMAN	transaldolase 1	192					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		TTTGTTGGGCGCATCCTTGAT	0.582													A	763457	G	A	763457	3	1	8	1	0	0	0	0	1	0	0	0	15540	1087	38	1	593	1	TALDO1	11	763457	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	145854	763457	134243059	946	7968											
LRDD	55367	broad.mit.edu	37	chr11	799897	799897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccagtccagacccagacGcccagccacactcagcaggt	10	17	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:799897G>A	uc001lro.1	-	15	2534	c.2392C>T	c.(2392-2394)CGT>TGT	p.R798C	SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Missense_Mutation_p.R781C|LRDD_uc001lrl.1_Missense_Mutation_p.R641C|LRDD_uc001lrm.1_Missense_Mutation_p.R485C|LRDD_uc001lrn.1_Missense_Mutation_p.R641C|LRDD_uc001lrp.1_3'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing	798	Death.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGACCCAGACGCCCAGCCACA	0.692													A	799897	G	A	799897	3	1	8	1	0	0	0	0	1	0	0	0	8936	1087	38	1	348	1	LRDD	11	799897	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	36440	799897	134206619	947	7969											
MUC5B	727897	broad.mit.edu	37	chr11	1263879	1263879	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcgtccactggatccacGgccaccccgacctccaccct	7	21	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:1263879G>A	uc009ycr.1	+	47	7974	c.7848G>A	c.(7846-7848)ACG>ACA	p.T2616T	MUC5B_uc001ltb.2_Silent_p.T1926T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1923	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGGATCCACGGCCACCCCGA	0.647													A	1263879	G	A	1263879	2	1	8	1	0	0	0	0	0	0	0	1	9979	1103	39	1		1	MUC5B	11	1263879	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	463982	1263879	133742637	948	7970											
BRSK2	9024	broad.mit.edu	37	chr11	1467040	1467040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaccggcacggcaagcggCggccagaacgcaaatccatg	13	13	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:1467040C>T	uc001lti.2	+	12	1515	c.1129C>T	c.(1129-1131)CGG>TGG	p.R377W	BRSK2_uc009ycv.1_Missense_Mutation_p.R377W|BRSK2_uc001lth.1_Missense_Mutation_p.R377W|BRSK2_uc001ltj.2_Missense_Mutation_p.R377W|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Missense_Mutation_p.R377W|BRSK2_uc001ltm.2_Missense_Mutation_p.R423W|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	377					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CGGCAAGCGGCGGCCAGAACG	0.697													T	1467040	C	T	1467040	3	4	8	1	0	0	0	0	1	0	0	0	1524	759	27	1	1175	1	BRSK2	11	1467040	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	203161	1467040	133539476	949	7971											
OSBPL5	114879	broad.mit.edu	37	chr11	3111807	3111807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagggacaaagtcaccatcCtgctcctcgtctgagagctc	9	15	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:3111807C>T	uc001lxk.2	-	20	2537	c.2379G>A	c.(2377-2379)CAG>CAA	p.Q793Q	OSBPL5_uc010qxq.1_Silent_p.Q704Q|OSBPL5_uc009ydw.2_Silent_p.Q725Q|OSBPL5_uc001lxl.2_Silent_p.Q725Q|OSBPL5_uc001lxj.2_Silent_p.Q247Q	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	oxysterol-binding protein-like protein 5 isoform	793					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGTCACCATCCTGCTCCTCGT	0.677													T	3111807	C	T	3111807	2	4	8	1	0	0	0	0	0	0	0	1	11280	680	24	4		4	OSBPL5	11	3111807	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1644767	3111807	131894709	950	7972											
ART5	116969	broad.mit.edu	37	chr11	3661166	3661166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttgggttcaaagcgaaGgctgcccacacctcggaaca	10	14	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:3661166G>A	uc001lyb.1	-	2	886	c.493C>T	c.(493-495)CTT>TTT	p.L165F	ART5_uc001lyc.1_Missense_Mutation_p.L165F|ART5_uc001lyd.2_Missense_Mutation_p.L165F|ART5_uc009yea.2_Missense_Mutation_p.L165F	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5 precursor	165						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAAAGCGAAGGCTGCCCACA	0.632													A	3661166	G	A	3661166	3	1	8	1	0	0	0	0	1	0	0	0	1000	1000	35	4	394	4	ART5	11	3661166	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	549359	3661166	131345350	951	7973											
STIM1	6786	broad.mit.edu	37	chr11	4103494	4103494	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggcccttcagaagtgGctgcagctgacacatgaggt	13	11	1	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:4103494G>A	uc001lyv.2	+	8	1618	c.1050G>A	c.(1048-1050)TGG>TGA	p.W350*	STIM1_uc009yef.2_Nonsense_Mutation_p.W350*|STIM1_uc009yeg.2_Nonsense_Mutation_p.W177*	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	350	Cytoplasmic (Potential).|Potential.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			pancreas(1)	1		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TTCAGAAGTGGCTGCAGCTGA	0.517													A	4103494	G	A	4103494	4	1	8	1	0	0	0	0	0	1	0	0	15282	1212	42	2	1080	2	STIM1	11	4103494	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	442328	4103494	130903022	952	7974											
STIM1	6786	broad.mit.edu	37	chr11	4112533	4112533	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatttgacccattccgattcGgagtcctccctccacatgag	8	14	0	2	rs148209416		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:4112533G>A	uc001lyv.2	+	12	2131	c.1563G>A	c.(1561-1563)TCG>TCA	p.S521S	STIM1_uc009yef.2_Missense_Mutation_p.G534R|STIM1_uc009yeg.2_Silent_p.S348S	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	521	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			pancreas(1)	1		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		ATTCCGATTCGGAGTCCTCCC	0.478													A	4112533	G	A	4112533	2	1	8	1	0	0	0	0	0	0	0	1	15282	1103	39	1		1	STIM1	11	4112533	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	9039	4112533	130893983	953	7975											
TRIM68	55128	broad.mit.edu	37	chr11	4621714	4621714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacccggcgaggagggaccGgcaaggacaggattgggtac	17	11	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:4621714G>A	uc001lzf.1	-	7	1488	c.1250C>T	c.(1249-1251)CCG>CTG	p.P417L	TRIM68_uc001lzg.1_Missense_Mutation_p.P194L|TRIM68_uc010qyj.1_RNA	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	ring finger protein 137	417	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGGAGGGACCGGCAAGGACAG	0.532													A	4621714	G	A	4621714	3	1	8	1	0	0	0	0	1	0	0	0	16538	1116	39	1	211	1	TRIM68	11	4621714	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	509181	4621714	130384802	954	7976											
OR51E1	143503	broad.mit.edu	37	chr11	4674693	4674693	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcgacttttccatgtggccAcacacgcttcagagccctag	8	14	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:4674693A>G	uc001lzi.3	+	2	1081	c.937A>G	c.(937-939)ACA>GCA	p.T313A		NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E,	312	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|pancreas(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATGTGGCCACACACGCTTC	0.433													G	4674693	A	G	4674693	3	3	8	1	0	0	0	0	1	0	0	0	11094	159	6	3	939	3	OR51E1	11	4674693	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	52979	4674693	130331823	955	7977											
TRIM5	85363	broad.mit.edu	37	chr11	5699619	5699619	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaggatgtctctcagttGctcaaaatctgccaagacgt	9	11	4	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:5699619G>A	uc001mbm.1	-	4	816	c.559C>T	c.(559-561)CAA>TAA	p.Q187*	TRIM5_uc001mbq.1_Nonsense_Mutation_p.Q187*|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Nonsense_Mutation_p.Q187*|TRIM5_uc001mbo.2_Nonsense_Mutation_p.Q187*|TRIM5_uc001mbp.2_Nonsense_Mutation_p.Q187*	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	187	Potential.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TCTCTCAGTTGCTCAAAATCT	0.463													A	5699619	G	A	5699619	4	1	8	1	0	0	0	0	0	1	0	0	16522	1328	46	2	1181	2	TRIM5	11	5699619	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1024926	5699619	129306897	956	7978											
CCKBR	887	broad.mit.edu	37	chr11	6291537	6291537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctgcagtgcgtgcatcGctggcccagtgcgcgggtcc	16	13	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:6291537G>A	uc001mcp.2	+	3	816	c.623G>A	c.(622-624)CGC>CAC	p.R208H	CCKBR_uc001mcq.2_Missense_Mutation_p.R136H|CCKBR_uc001mcr.2_Missense_Mutation_p.R208H|CCKBR_uc001mcs.2_Missense_Mutation_p.R208H|CCKBR_uc001mct.1_5'Flank	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	208	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TGCGTGCATCGCTGGCCCAGT	0.582													A	6291537	G	A	6291537	3	1	8	1	0	0	0	0	1	0	0	0	2881	1087	38	1	633	1	CCKBR	11	6291537	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	591918	6291537	128714979	957	7979											
CCKBR	887	broad.mit.edu	37	chr11	6292725	6292725	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccactccctccattgcttcGctgtccaggcttagctacac	6	18	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:6292725G>A	uc001mcp.2	+	5	1489	c.1296G>A	c.(1294-1296)TCG>TCA	p.S432S	CCKBR_uc001mcq.2_Silent_p.S360S|CCKBR_uc001mcr.2_Silent_p.S415S|CCKBR_uc001mcs.2_Silent_p.S501S	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	432	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CCATTGCTTCGCTGTCCAGGC	0.652													A	6292725	G	A	6292725	2	1	8	1	0	0	0	0	0	0	0	1	2881	1074	38	1		1	CCKBR	11	6292725	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1188	6292725	128713791	958	7980											
APBB1	322	broad.mit.edu	37	chr11	6424925	6424925	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgagggggaggcccggccGgggggttcccactgggtggt	22	9	0	1	rs139929849		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:6424925G>T	uc001mdb.1	-	3	949	c.849C>A	c.(847-849)CCC>CCA	p.P283P	APBB1_uc001mcz.1_5'Flank|APBB1_uc001mdd.3_Silent_p.P63P|APBB1_uc001mda.2_Intron|APBB1_uc001mdc.1_Silent_p.P283P|APBB1_uc010rab.1_5'Flank|APBB1_uc010rac.1_5'Flank|APBB1_uc010rad.1_5'Flank|APBB1_uc010rae.1_Silent_p.P48P|APBB1_uc010raf.1_Silent_p.P24P|APBB1_uc009yfa.2_Silent_p.P24P|APBB1_uc009yey.2_Silent_p.P24P|APBB1_uc010rag.1_Silent_p.P24P|APBB1_uc009yfb.2_Silent_p.P24P|APBB1_uc001mde.2_Silent_p.P24P|APBB1_uc010rah.1_Silent_p.P24P	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	283	WW.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AGGCCCGGCCGGGGGGTTCCC	0.652													T	6424925	G	T	6424925	2	4	8	1	0	0	0	0	0	0	0	1	759	1103	39	5		5	APBB1	11	6424925	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	132200	6424925	128581591	959	7981											
DCHS1	8642	broad.mit.edu	37	chr11	6655115	6655115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtcagggtcatgggcaCgcaacctcagcacagctgtg	13	13	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:6655115C>T	uc001mem.1	-	4	2533	c.2123G>A	c.(2122-2124)CGT>CAT	p.R708H		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	708	Cadherin 7.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCATGGGCACGCAACCTCAG	0.557													T	6655115	C	T	6655115	3	4	8	1	0	0	0	0	1	0	0	0	4287	536	19	1	7845	1	DCHS1	11	6655115	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	230190	6655115	128351401	960	7982											
DCHS1	8642	broad.mit.edu	37	chr11	6661810	6661810	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgcacagtcacaaaggcCgagcccagctcagggtgagc	12	13	2	1	rs143172918	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:6661810C>T	uc001mem.1	-	2	1445	c.1035G>A	c.(1033-1035)TCG>TCA	p.S345S		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	345	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCACAAAGGCCGAGCCCAGCT	0.597													T	6661810	C	T	6661810	2	4	8	1	0	0	0	0	0	0	0	1	4287	639	23	1		1	DCHS1	11	6661810	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	6695	6661810	128344706	961	7983											
RBMXL2	27288	broad.mit.edu	37	chr11	7111248	7111248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccaggacgggggacaccGccatcttacggaggaggagg	17	12	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:7111248G>A	uc001mfc.2	+	1	1084	c.897G>A	c.(895-897)CCG>CCA	p.P299P		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	299	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGGGGACACCGCCATCTTACG	0.662													A	7111248	G	A	7111248	2	1	8	1	0	0	0	0	0	0	0	1	13154	1074	38	1		1	RBMXL2	11	7111248	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	449438	7111248	127895268	962	7984											
CTR9	9646	broad.mit.edu	37	chr11	10793117	10793117	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagttatttgagtaaagtgGgagataaaatgagatttgat	11	1	1	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:10793117G>T	uc001mja.2	+	19	2547	c.2398G>T	c.(2398-2400)GGA>TGA	p.G800*		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	800					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GAGTAAAGTGGGAGATAAAAT	0.318													T	10793117	G	T	10793117	4	4	8	1	0	0	0	0	0	1	0	0	4024	1233	43	5	2472	5	CTR9	11	10793117	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3681869	10793117	124213399	963	7985											
PIK3C2A	5286	broad.mit.edu	37	chr11	17134211	17134211	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagaactgaagaaggaacaCgactgcaaatacaacatgtt	8	7	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:17134211C>T	uc001mmq.3	-	20	3390	c.3324G>A	c.(3322-3324)TCG>TCA	p.S1108S	PIK3C2A_uc009ygu.1_Translation_Start_Site|PIK3C2A_uc010rcw.1_Silent_p.S728S|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	1108					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	AGAAGGAACACGACTGCAAAT	0.358													T	17134211	C	T	17134211	2	4	8	1	0	0	0	0	0	0	0	1	11909	523	19	1		1	PIK3C2A	11	17134211	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	6341094	17134211	117872305	964	7986											
ABCC8	6833	broad.mit.edu	37	chr11	17483300	17483300	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagattcacgaagggctgcaGgaagcgtacccccaggtctt	12	12	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:17483300G>T	uc001mnc.2	-	5	778	c.652C>A	c.(652-654)CTG>ATG	p.L218M	ABCC8_uc010rcy.1_Missense_Mutation_p.L218M	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	218	Cytoplasmic (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AAGGGCTGCAGGAAGCGTACC	0.582													T	17483300	G	T	17483300	3	4	8	1	0	0	0	0	1	0	0	0	58	991	35	5	4233	5	ABCC8	11	17483300	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	349089	17483300	117523216	965	7987											
MYOD1	4654	broad.mit.edu	37	chr11	17741373	17741373	+	Frame_Shift_Del	DEL	C	C	-													ccgcgacgtagacctgacggCccccgacggctctctctgct							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:17741372_17741372GC>G	uc001mni.3	+	0	263	c.43_43GC>G	c.(43-45)gccfs	p.A15fs		NM_002478	NP_002469	P15172	MYOD1_HUMAN	Homo sapiens myogenic differentiation 1 (MYOD1), mRNA.	15					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						AGACCTGACGGCCCCCGACGG	0.652													-	17741373	C	-	17741373	7	5	8	1	0	1	0	1	0	0	0	0	10088	739	26	0	46	0	MYOD1	11	17741373	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	258073	17741373	117265143	966	7988	15	2									
MYOD1	4654	broad.mit.edu	37	chr11	17741380	17741380	+	Silent	SNP	C	C	T													gtagacctgacggcccccgaCggctctctctgctcctttgc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:17741380C>T	uc001mni.2	+	1	271	c.51C>T	c.(49-51)GAC>GAT	p.D17D		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	17					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3						CGGCCCCCGACGGCTCTCTCT	0.657													T	17741380	C	T	17741380	2	4	8	1	0	0	0	0	0	0	0	1	10088	535	19	1		1	MYOD1	11	17741380	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	7	17741380	117265136	967	7989	15	2									
ZDHHC13	54503	broad.mit.edu	37	chr11	19177422	19177422	+	Frame_Shift_Del	DEL	T	T	-													cttcaattcagattcttggcTtttaaaaggatgtcttctag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:19177421_19177421CT>C	uc001mpi.3	+	8	1057	c.952_952CT>C	c.(952-954)cttfs	p.L318fs	ZDHHC13_uc001mpj.3_Frame_Shift_Del_p.L188fs	NM_019028	NP_001001483	Q8IUH4	ZDH13_HUMAN	Homo sapiens zinc finger, DHHC-type containing 13 (ZDHHC13), transcript variant 1, mRNA.	318					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						AGATTCTTGGCTTTTAAAAGG	0.353													-	19177422	T	-	19177422	7	5	8	1	0	1	0	1	0	0	0	0	17600	1609	56	0	987	0	ZDHHC13	11	19177422	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	1436042	19177422	115829094	968	7990											
E2F8	79733	broad.mit.edu	37	chr11	19256468	19256468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtacttattctcctcccCgatgctcttcaaggtgccaa	8	14	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:19256468C>T	uc001mpm.2	-	5	1111	c.589G>A	c.(589-591)GGG>AGG	p.G197R	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.G197R	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	197					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						TTCTCCTCCCCGATGCTCTTC	0.433													T	19256468	C	T	19256468	3	4	8	1	0	0	0	0	1	0	0	0	4873	652	23	1	2050	1	E2F8	11	19256468	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	79046	19256468	115750048	969	7991											
KIF18A	81930	broad.mit.edu	37	chr11	28045380	28045380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatttacgtctgcagttaacGaactgtttgatgtagaactt	8	6	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:28045380G>A	uc001msc.2	-	16	2704	c.2522C>T	c.(2521-2523)TCG>TTG	p.S841L		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	841					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			ovary(2)	2						TGCAGTTAACGAACTGTTTGA	0.328													A	28045380	G	A	28045380	3	1	8	1	0	0	0	0	1	0	0	0	8280	1059	37	1	182	1	KIF18A	11	28045380	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	8788912	28045380	106961136	970	7992											
KIF18A	81930	broad.mit.edu	37	chr11	28058164	28058165	+	Frame_Shift_Ins	INS	-	-	T													attagttttctccgagttctINStttttctgtaggaatcttaa							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:28058163_28058164C>CT	uc001msc.2	-	13	2178_2179	c.1996_1997G>AG	c.(1996-1998)agafs	p.R666fs		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	Homo sapiens kinesin family member 18A (KIF18A), mRNA.	666					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	ATP binding|actin binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TCTCCGAGTTCTTTTTTCTGTA	0.356													T	28058165	-	T	28058164	7	5	8	1	0	1	1	0	0	0	0	0	8280	1617	56	0	716	0	KIF18A	11	28058164	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	12784	28058164	106948352	971	7993											
CCDC73	493860	broad.mit.edu	37	chr11	32636061	32636061	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaagcaatctgaattgtttGaatggctcattttcagaaac	9	6	3	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:32636061G>A	uc001mtv.2	-	16	1847	c.1803C>T	c.(1801-1803)TTC>TTT	p.F601F		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	601										ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)					TGAATTGTTTGAATGGCTCAT	0.333													A	32636061	G	A	32636061	2	1	8	1	0	0	0	0	0	0	0	1	2846	1281	45	4		4	CCDC73	11	32636061	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4577897	32636061	102370455	972	7994											
HIPK3	10114	broad.mit.edu	37	chr11	33358693	33358694	+	Frame_Shift_Ins	INS	-	-	T													gggtactaaatccacaagatINSttttttgcaaagaaacagat							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:33358692_33358693A>AT	uc001mul.1	+	3	1563_1564	c.1293_1294A>AT	c.(1291-1296)agatttfs	p.R431fs	HIPK3_uc001mum.1_Frame_Shift_Ins_p.R431fs|HIPK3_uc009yjv.1_Frame_Shift_Ins_p.R431fs|HIPK3_uc009yjw.1_Non-coding_Transcript	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	431	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.R431I(2)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AATCCACAAGATTTTTTTGCAA	0.312													T	33358694	-	T	33358693	7	5	8	1	0	1	1	0	0	0	0	0	7118	1493	52	0	1304	0	HIPK3	11	33358693	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	722632	33358693	101647823	973	7995											
C11orf41	25758	broad.mit.edu	37	chr11	33566554	33566554	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtccatacagccttcccAttcacaccaacctacatgta	4	16	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:33566554A>G	uc001mup.3	+	2	2266	c.2142A>G	c.(2140-2142)CCA>CCG	p.P714P	C11orf41_uc001mun.1_Silent_p.P714P	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	708						integral to membrane				ovary(2)	2						CAGCCTTCCCATTCACACCAA	0.498													G	33566554	A	G	33566554	2	3	8	1	0	0	0	0	0	0	0	1	1640	204	8	3		3	C11orf41	11	33566554	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	207861	33566554	101439962	974	7996											
PDHX	8050	broad.mit.edu	37	chr11	35006241	35006241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcataaaagatgctgctgCtaaaggtatccaggaaattg	9	6	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:35006241C>T	uc001mvt.2	+	9	1674	c.1148C>T	c.(1147-1149)GCT>GTT	p.A383V	PDHX_uc010rep.1_Missense_Mutation_p.A368V|PDHX_uc010req.1_Missense_Mutation_p.A156V	NM_003477	NP_003468	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	383					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			kidney(1)	1	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			GATGCTGCTGCTAAAGGTATC	0.388													T	35006241	C	T	35006241	3	4	8	1	0	0	0	0	1	0	0	0	11667	797	28	2	1301	2	PDHX	11	35006241	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1439687	35006241	100000275	975	7997											
CD44	960	broad.mit.edu	37	chr11	35211585	35211585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagacagtccctggatcaccGacagcacagacagaatccct	8	14	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:35211585G>A	uc001mvu.2	+	5	1074	c.640G>A	c.(640-642)GAC>AAC	p.D214N	CD44_uc001mvv.2_Missense_Mutation_p.D214N|CD44_uc001mvw.2_Missense_Mutation_p.D214N|CD44_uc001mvx.2_Missense_Mutation_p.D214N|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Missense_Mutation_p.D214N|CD44_uc010rer.1_Missense_Mutation_p.D214N|CD44_uc009ykh.2_RNA|CD44_uc010res.1_5'UTR|CD44_uc010ret.1_RNA|CD44_uc010reu.1_5'UTR	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	214	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			pancreas(1)	1	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	CTGGATCACCGACAGCACAGA	0.493													A	35211585	G	A	35211585	3	1	8	1	0	0	0	0	1	0	0	0	3017	1058	37	1	658	1	CD44	11	35211585	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	205344	35211585	99794931	976	7998											
PAMR1	25891	broad.mit.edu	37	chr11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-													catagaagtcatccaaggtaCccccccatgagccatttcgg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:35513669_35513669AC>A	uc001mwf.3	-	2	346	c.303_303GT>T	c.(301-303)ggtfs	p.G101fs	PAMR1_uc001mwg.3_Frame_Shift_Del_p.G101fs|PAMR1_uc010rew.2_Frame_Shift_Del_p.G101fs|PAMR1_uc010rex.2_Frame_Shift_Del_p.G61fs	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATG	0.522													-	35513670	C	-	35513670	7	5	8	1	0	1	0	1	0	0	0	0	11413	507	18	0	1951	0	PAMR1	11	35513670	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	302085	35513670	99492846	977	7999											
ACCS	84680	broad.mit.edu	37	chr11	44105261	44105261	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggatgcagagggtccaGcaggtgcttgcaggcaaatc	15	10	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:44105261G>A	uc009yks.1	+	15	1569	c.1425G>A	c.(1423-1425)CAG>CAA	p.Q475Q	EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Silent_p.Q475Q	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase	475							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4						AGAGGGTCCAGCAGGTGCTTG	0.617													A	44105261	G	A	44105261	2	1	8	1	0	0	0	0	0	0	0	1	133	962	34	2		2	ACCS	11	44105261	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	8591591	44105261	90901255	978	8000											
EXT2	2132	broad.mit.edu	37	chr11	44135753	44135753	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggccctgttggctggtggCggcttttctacgtggactta	15	9	1	0	rs111364140		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:44135753C>T	uc001mxz.2	+	4	979	c.645C>T	c.(643-645)GGC>GGT	p.G215G	EXT2_uc010rfo.1_Silent_p.G243G|EXT2_uc001mxy.2_Silent_p.G228G|EXT2_uc009ykt.2_Silent_p.G215G|EXT2_uc001mya.2_Silent_p.G248G	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	215	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			lung(2)|breast(2)|skin(1)	5						TGGCTGGTGGCGGCTTTTCTA	0.473			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses				T	44135753	C	T	44135753	2	4	8	1	0	0	0	0	0	0	0	1	5324	755	27	1		1	EXT2	11	44135753	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	30492	44135753	90870763	979	8001											
MADD	8567	broad.mit.edu	37	chr11	47298400	47298400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgctacccacctgcatgGcatcagcagagcaggtgagt	12	13	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:47298400G>A	uc001ner.1	+	5	1272	c.1081G>A	c.(1081-1083)GCA>ACA	p.A361T	MADD_uc001neq.2_Missense_Mutation_p.A361T|MADD_uc001nev.1_Missense_Mutation_p.A361T|MADD_uc001nes.1_Missense_Mutation_p.A361T|MADD_uc001net.1_Missense_Mutation_p.A361T|MADD_uc009yln.1_Missense_Mutation_p.A361T|MADD_uc001neu.1_Missense_Mutation_p.A361T|MADD_uc001nex.2_Missense_Mutation_p.A361T|MADD_uc001nez.2_Missense_Mutation_p.A361T|MADD_uc001new.2_Missense_Mutation_p.A361T	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	361	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		CACCTGCATGGCATCAGCAGA	0.512													A	47298400	G	A	47298400	3	1	8	1	0	0	0	0	1	0	0	0	9152	1203	42	2	1095	2	MADD	11	47298400	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3162647	47298400	87708116	980	8002											
FNBP4	23360	broad.mit.edu	37	chr11	47744543	47744543	+	Frame_Shift_Del	DEL	T	T	-													tataccttgtctttccttccTttttttgtcttttcaggtgg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:47744543delT	uc009ylv.2	-	15	2943	c.2790delA	c.(2788-2790)AAAfs	p.K930fs	FNBP4_uc001ngi.2_Frame_Shift_Del_p.K244fs|FNBP4_uc001ngj.2_Frame_Shift_Del_p.K837fs	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	930										ovary(1)	1						CTTTCCTTCCTTTTTTTGTCT	0.184													-	47744543	T	-	47744543	7	5	8	1	0	1	0	1	0	0	0	0	5967	1606	56	0	275	0	FNBP4	11	47744543	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	446143	47744543	87261973	981	8003											
PTPRJ	5795	broad.mit.edu	37	chr11	48134376	48134376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacgcagatcagcagtacaGcagaatcctttcataaacag	7	10	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:48134376G>A	uc001ngp.3	+	3	548	c.193G>A	c.(193-195)GCA>ACA	p.A65T	PTPRJ_uc001ngo.3_Missense_Mutation_p.A65T	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	65	Extracellular (Potential).				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						CAGCAGTACAGCAGAATCCTT	0.448													A	48134376	G	A	48134376	3	1	8	1	0	0	0	0	1	0	0	0	12804	971	34	2	203	2	PTPRJ	11	48134376	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	389833	48134376	86872140	982	8004											
OR4C15	81309	broad.mit.edu	37	chr11	55322311	55322311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggcctatgatcgttatGtggccatttgcaagcccttg	10	11	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:55322311G>A	uc010rig.1	+	1	529	c.529G>A	c.(529-531)GTG>ATG	p.V177M		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	123	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGATCGTTATGTGGCCATTTG	0.507										HNSCC(20;0.049)			A	55322311	G	A	55322311	3	1	8	1	0	0	0	0	1	0	0	0	11048	1377	48	4	531	4	OR4C15	11	55322311	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	7187935	55322311	79684205	983	8005											
OR5L1	219437	broad.mit.edu	37	chr11	55579394	55579394	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcttgctgctacttctGtgggacggtgtgttctctga	13	9	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:55579394G>T	uc001nhw.1	+	1	452	c.452G>T	c.(451-453)TGT>TTT	p.C151F		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	151	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)				TGCTACTTCTGTGGGACGGTG	0.468													T	55579394	G	T	55579394	3	4	8	1	0	0	0	0	1	0	0	0	11170	1377	48	5	454	5	OR5L1	11	55579394	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	257083	55579394	79427122	984	8006											
OR5D16	390144	broad.mit.edu	37	chr11	55606783	55606783	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttctgtgagttatcctccCtgatatcactctcttaccct	4	14	4	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:55606783C>A	uc010rio.1	+	1	556	c.556C>A	c.(556-558)CTG>ATG	p.L186M		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	186	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_epithelial(135;0.208)				GTTATCCTCCCTGATATCACT	0.418													A	55606783	C	A	55606783	3	1	8	1	0	0	0	0	1	0	0	0	11156	680	24	5	558	5	OR5D16	11	55606783	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	27389	55606783	79399733	985	8007											
OR5M3	219482	broad.mit.edu	37	chr11	56237709	56237709	+	Frame_Shift_Del	DEL	T	T	-													acaaccagcataagtaattgTttttttatctgataacaggt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:56237708_56237708GT>G	uc010rjk.2	-	0	307	c.266_266AC>C	c.(265-267)acafs	p.T89fs	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					ATAAGTAATTGTTTTTTTATC	0.363													-	56237709	T	-	56237709	7	5	8	1	0	1	0	1	0	0	0	0	11175	1725	60	0	660	0	OR5M3	11	56237709	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	630926	56237709	78768807	986	8008											
OR5M8	219484	broad.mit.edu	37	chr11	56258583	56258583	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcaggataggaaatgcttttCttctctgaaaggaaaatctc	9	7	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:56258583C>A	uc001nix.1	-	1	264	c.264G>T	c.(262-264)AAG>AAT	p.K88N		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	88	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)					AAATGCTTTTCTTCTCTGAAA	0.458													A	56258583	C	A	56258583	3	1	8	1	0	0	0	0	1	0	0	0	11176	912	32	5	675	5	OR5M8	11	56258583	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	20874	56258583	78747933	987	8009											
OR5M10	390167	broad.mit.edu	37	chr11	56345140	56345140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatcttctctagcactgggtCgtctgtcagtcctaagagaa	10	10	4	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:56345140C>T	uc001niz.1	-	1	58	c.58G>A	c.(58-60)GAC>AAC	p.D20N		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGCACTGGGTCGTCTGTCAGT	0.458													T	56345140	C	T	56345140	3	4	8	1	0	0	0	0	1	0	0	0	11173	884	31	1	893	1	OR5M10	11	56345140	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	86557	56345140	78661376	988	8010											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57077118	57077119	+	Frame_Shift_Del	DEL	CT	CT	-													actgaacaagcccccggatcCtctctctcctggccggccag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:57077117_57077118CCT>C	uc001njr.3	-	4	3379_3380	c.3067_3068AGG>G	c.(3067-3069)ggafs	p.G1023fs	TNKS1BP1_uc001njs.3_Frame_Shift_Del_p.G1023fs|TNKS1BP1_uc009ymd.1_Frame_Shift_Del_p.G474fs	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1023	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCCCCCGGATCCTCTCTCTCCT	0.594													-	57077119	CT	-	57077118	7	5	8	1	0	1	0	1	0	0	0	0	16317	690	24	0	2146	0	TNKS1BP1	11	57077118	Frame_Shift_Del	DEL	CT	TCGA-BR-4201-01A-01D-1126-08	731978	57077118	77929398	989	8011											
OR9I1	219954	broad.mit.edu	37	chr11	57886596	57886596	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaagcactctgtgcctgcAcagatggtgaataaaaagaa	10	7	1	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:57886596A>G	uc001nml.1	-	1	321	c.321T>C	c.(319-321)TGT>TGC	p.C107C	OR9Q1_uc001nmj.2_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I,	107	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Breast(21;0.0589)				CTGTGCCTGCACAGATGGTGA	0.542													G	57886596	A	G	57886596	2	3	8	1	0	0	0	0	0	0	0	1	11253	157	6	3		3	OR9I1	11	57886596	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	809478	57886596	77119920	990	8012											
ZFP91	80829	broad.mit.edu	37	chr11	58377810	58377810	+	Splice_Site	DEL	A	A	-													gtctccaggtggcattaggtAaaaaaaacattaatatttca							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:58377809_58377809TA>T	uc001nmx.4	+	4	785	c.617_splice	c.e4+2	p.S206_splice	ZFP91_uc001nmy.4_Splice_Site_p.S206_splice|CNTF_uc010rkm.2_Splice_Site	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA.	206	Glu-rich.			Missing (in Ref. 4; AAH51743).	activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGGCATTAGGTAAAAAAAACA	0.313													-	58377810	A	-	58377810	8	5	8	1	0	1	0	1	0	0	1	0	17652	377	13	0		0	ZFP91	11	58377810	Splice_Site	DEL	A	TCGA-BR-4201-01A-01D-1126-08	491214	58377810	76628706	991	8013											
GLYATL2	219970	broad.mit.edu	37	chr11	58604809	58604809	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggacttcctctaatttgTcaggagctttggtgaagatg	11	7	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:58604809T>C	uc001nnd.3	-	4	379	c.248A>G	c.(247-249)GAC>GGC	p.D83G	GLYATL2_uc009ymq.2_Missense_Mutation_p.D83G	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	83						mitochondrion	glycine N-acyltransferase activity			ovary(1)|skin(1)	2		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CTCTAATTTGTCAGGAGCTTT	0.378													C	58604809	T	C	58604809	3	2	8	1	0	0	0	0	1	0	0	0	6481	1667	58	3	648	3	GLYATL2	11	58604809	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	226999	58604809	76401707	992	8014											
OR4D9	390199	broad.mit.edu	37	chr11	59282835	59282835	+	Frame_Shift_Del	DEL	G	G	-													ctcatcgtggcttcctgggtGgggggctttgtccactccat							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:59282834_59282834TG>T	uc010rkv.2	+	0	449	c.449_449TG>T	c.(448-450)gtgfs	p.V150fs		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	150				ASWVGGF -> GFLGGGL (in Ref. 2; AC019093).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						GCTTCCTGGGTGGGGGGCTTT	0.542													-	59282835	G	-	59282835	7	5	8	1	0	1	0	1	0	0	0	0	11059	1335	47	0	452	0	OR4D9	11	59282835	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	678026	59282835	75723681	993	8015											
OR10V1	390201	broad.mit.edu	37	chr11	59480554	59480554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaagtatataaagctggtGcagccatactgcaggaggac	12	8	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:59480554G>A	uc001nof.1	-	1	765	c.765C>T	c.(763-765)TGC>TGT	p.C255C		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V,	255	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TAAAGCTGGTGCAGCCATACT	0.522													A	59480554	G	A	59480554	2	1	8	1	0	0	0	0	0	0	0	1	10920	1311	46	2		2	OR10V1	11	59480554	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	197719	59480554	75525962	994	8016											
MRPL16	54948	broad.mit.edu	37	chr11	59574080	59574080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttcttcaaattcacaacGcccacccatctctacaacaa	1	17	4	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:59574080G>A	uc001noh.2	-	4	710	c.496C>T	c.(496-498)CGT>TGT	p.R166C		NM_017840	NP_060310	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16 precursor	166							rRNA binding			central_nervous_system(1)	1						AATTCACAACGCCCACCCATC	0.552													A	59574080	G	A	59574080	3	1	8	1	0	0	0	0	1	0	0	0	9781	1087	38	1	263	1	MRPL16	11	59574080	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	93526	59574080	75432436	995	8017											
TMEM132A	54972	broad.mit.edu	37	chr11	60704376	60704376	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaggatccggggcagctcCtgaccctccacagccacctg	12	16	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:60704376C>A	uc001nqj.2	+	11	3262	c.3069C>A	c.(3067-3069)TCC>TCA	p.S1023S	TMEM132A_uc001nqi.2_Silent_p.S1024S|TMEM132A_uc001nqm.2_Silent_p.S233S	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	1023	Cytoplasmic (Potential).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						GGGGCAGCTCCTGACCCTCCA	0.647													A	60704376	C	A	60704376	2	1	8	1	0	0	0	0	0	0	0	1	16042	668	24	5		5	TMEM132A	11	60704376	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1130296	60704376	74302140	996	8018											
SLC15A3	51296	broad.mit.edu	37	chr11	60707056	60707056	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggacctccccaatctgcTgggacacggtctcgttgtgg	12	13	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:60707056T>C	uc001nqn.2	-	6	1565	c.1331A>G	c.(1330-1332)CAG>CGG	p.Q444R	SLC15A3_uc001nqo.2_Missense_Mutation_p.S388G	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	solute carrier family 15, member 3	444					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0						CCCAATCTGCTGGGACACGGT	0.577													C	60707056	T	C	60707056	3	2	8	1	0	0	0	0	1	0	0	0	14400	1580	55	3	426	3	SLC15A3	11	60707056	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	2680	60707056	74299460	997	8019											
CD6	923	broad.mit.edu	37	chr11	60783258	60783258	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcggactcagactatgaGcactatgacttcagcgccca	10	13	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:60783258G>A	uc001nqq.2	+	9	1684	c.1461G>A	c.(1459-1461)GAG>GAA	p.E487E	CD6_uc001nqp.2_Silent_p.E487E|CD6_uc001nqr.2_Silent_p.E455E|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Intron	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor	487	Cytoplasmic (Potential).				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						CAGACTATGAGCACTATGACT	0.627													A	60783258	G	A	60783258	2	1	8	1	0	0	0	0	0	0	0	1	3028	962	34	2		2	CD6	11	60783258	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	76202	60783258	74223258	998	8020											
DAK	26007	broad.mit.edu	37	chr11	61110231	61110231	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatgtctacccgcaggctcCtcagttgtgatgatggtcaa	10	11	4	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:61110231C>A	uc001nre.2	+	10	1037	c.780C>A	c.(778-780)TCC>TCA	p.S260S	DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Silent_p.S190S	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	260	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0						CCGCAGGCTCCTCAGTTGTGA	0.622													A	61110231	C	A	61110231	2	1	8	1	0	0	0	0	0	0	0	1	4228	668	24	5		5	DAK	11	61110231	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	326973	61110231	73896285	999	8021											
AHNAK	79026	broad.mit.edu	37	chr11	62292451	62292451	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttaggcatcttcaggtgCcagtctgggccttgaacatc	10	10	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:62292451C>T	uc001ntl.2	-	5	9738	c.9438G>A	c.(9436-9438)TGG>TGA	p.W3146*	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3146					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TCTTCAGGTGCCAGTCTGGGC	0.488													T	62292451	C	T	62292451	4	4	8	1	0	0	0	0	0	1	0	0	414	740	26	2	8354	2	AHNAK	11	62292451	Nonsense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1182220	62292451	72714065	1000	8022											
METTL12	751071	broad.mit.edu	37	chr11	62433383	62433383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcgaatgctccacttgcCgagcctgatgatggggacgt	14	11	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:62433383C>T	uc001nug.1	+	2	291	c.32C>T	c.(31-33)CCG>CTG	p.P11L	C11orf48_uc001nue.2_Intron|C11orf48_uc001nuf.2_Intron|METTL12_uc001nuh.2_5'UTR|METTL12_uc010rmc.1_RNA	NM_001043229	NP_001036694	A8MUP2	MTL12_HUMAN	methyltransferase like 12 precursor	11						mitochondrion	methyltransferase activity				0						CTCCACTTGCCGAGCCTGATG	0.632													T	62433383	C	T	62433383	3	4	8	1	0	0	0	0	1	0	0	0	9496	652	23	1	34	1	METTL12	11	62433383	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	140932	62433383	72573133	1001	8023											
UBXN1	51035	broad.mit.edu	37	chr11	62446025	62446025	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaggatatgtccaaggggAgtctctaaaggctcgtccac	11	12	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:62446025A>G	uc001nul.1	-	3	294	c.162T>C	c.(160-162)ACT>ACC	p.T54T	UBXN1_uc001nuj.2_Silent_p.T54T|UBXN1_uc001num.1_Silent_p.T54T|UBXN1_uc001nuk.2_Silent_p.T19T|UBXN1_uc010rme.1_Silent_p.T54T|UBXN1_uc010rmf.1_Silent_p.T54T	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	UBX domain protein 1	54	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding				0						GTCCAAGGGGAGTCTCTAAAG	0.612													G	62446025	A	G	62446025	2	3	8	1	0	0	0	0	0	0	0	1	16908	291	11	3		3	UBXN1	11	62446025	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	12642	62446025	72560491	1002	8024											
ATL3	25923	broad.mit.edu	37	chr11	63420050	63420050	+	Splice_Site	DEL	A	A	-													catcagaacaactgcaacctAaaaaaaaggaaaatacaaac							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:63420049_63420049TA>T	uc001nxk.1	-	4	682	c.406_splice	c.e4-1	p.V136_splice	ATL3_uc010rms.1_Splice_Site_p.V118_splice	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	Homo sapiens atlastin GTPase 3 (ATL3), mRNA.	136					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AACTGCAACCTAAAAAAAAGG	0.373													-	63420050	A	-	63420050	8	5	8	1	0	1	0	1	0	0	1	0	1108	377	13	0		0	ATL3	11	63420050	Splice_Site	DEL	A	TCGA-BR-4201-01A-01D-1126-08	974025	63420050	71586466	1003	8025											
RTN3	10313	broad.mit.edu	37	chr11	63488464	63488465	+	Frame_Shift_Ins	INS	-	-	A													ttagcaagactgaattggtaINSaaaaagcatgtcctagcaag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:63488463_63488464T>TA	uc001nxq.3	+	2	2676_2677	c.2489_2490T>TA	c.(2488-2490)gtafs	p.V830fs	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Frame_Shift_Ins_p.V718fs|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Frame_Shift_Ins_p.V811fs|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	830					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ACTGAATTGGTAAAAAAGCATG	0.401													A	63488465	-	A	63488464	7	5	8	1	0	1	1	0	0	0	0	0	13727	349	13	0	2500	0	RTN3	11	63488464	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	68414	63488464	71518052	1004	8026											
PLCB3	5331	broad.mit.edu	37	chr11	64026040	64026040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacgtgtggaagggacggCcgcctgaggaggaacccttc	17	10	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:64026040C>T	uc001nzb.2	+	11	1108	c.1108C>T	c.(1108-1110)CCG>TCG	p.P370S	PLCB3_uc009ypg.1_Missense_Mutation_p.P370S|PLCB3_uc009yph.1_Missense_Mutation_p.P303S|PLCB3_uc009ypi.2_Missense_Mutation_p.P370S	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	370	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						GAAGGGACGGCCGCCTGAGGA	0.652													T	64026040	C	T	64026040	3	4	8	1	0	0	0	0	1	0	0	0	12029	739	26	2	1150	2	PLCB3	11	64026040	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	537576	64026040	70980476	1005	8027											
GPR137	56834	broad.mit.edu	37	chr11	64054479	64054479	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtcggccggagatgagcCgaggcttgtaagtactcggg	17	9	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:64054479C>T	uc001nzg.1	+	3	708	c.400C>T	c.(400-402)CGA>TGA	p.R134*	BAD_uc001nzd.2_5'Flank|BAD_uc001nzc.2_5'Flank|GPR137_uc009ypj.1_Nonsense_Mutation_p.R140*|BAD_uc009ypk.2_5'Flank|GPR137_uc010rni.1_Nonsense_Mutation_p.R192*|GPR137_uc001nze.1_Nonsense_Mutation_p.R134*|GPR137_uc001nzf.2_Nonsense_Mutation_p.R134*|GPR137_uc001nzh.1_Nonsense_Mutation_p.R134*|GPR137_uc001nzi.2_Nonsense_Mutation_p.R134*|GPR137_uc010rnj.1_Nonsense_Mutation_p.R134*	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	134	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(1)	1						GGAGATGAGCCGAGGCTTGTA	0.532													T	64054479	C	T	64054479	4	4	8	1	0	0	0	0	0	1	0	0	6645	644	23	1	588	1	GPR137	11	64054479	Nonsense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	28439	64054479	70952037	1006	8028											
SLC22A11	55867	broad.mit.edu	37	chr11	64329603	64329603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgcttttgggatggccGgcatctttctgagttcactg	13	10	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:64329603G>A	uc001oai.2	+	3	999	c.625G>A	c.(625-627)GGC>AGC	p.G209S	SLC22A11_uc001oah.1_Missense_Mutation_p.R174Q|SLC22A11_uc001oaj.2_Missense_Mutation_p.G209S|SLC22A11_uc009ypq.2_Missense_Mutation_p.G209S|SLC22A11_uc001oak.1_Missense_Mutation_p.G38S	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	209	Helical; (Potential).				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)	TGGGATGGCCGGCATCTTTCT	0.662											OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	64329603	G	A	64329603	3	1	8	1	0	0	0	0	1	0	0	0	14442	1116	39	1	635	1	SLC22A11	11	64329603	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	275124	64329603	70676913	1007	8029											
NRXN2	9379	broad.mit.edu	37	chr11	64428294	64428294	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagcggttccagccttctcGacagacgcccccattgcgac	10	16	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:64428294G>A	uc001oar.2	-	11	2555	c.2116C>T	c.(2116-2118)CGA>TGA	p.R706*	NRXN2_uc001oas.2_Nonsense_Mutation_p.R675*|NRXN2_uc001oaq.2_Nonsense_Mutation_p.R373*	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:Variant_position_missing_in_P58401_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						CAGCCTTCTCGACAGACGCCC	0.632													A	64428294	G	A	64428294	4	1	8	1	0	0	0	0	0	1	0	0	10666	1066	37	1	3347	1	NRXN2	11	64428294	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	98691	64428294	70578222	1008	8030											
C11orf2	738	broad.mit.edu	37	chr11	64878997	64878997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggcctctgctgccctgCgctgcccagaccctgtgccc	12	18	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:64878997C>T	uc001ocr.1	+	10	2327	c.2287C>T	c.(2287-2289)CGC>TGC	p.R763C	TM7SF2_uc001oct.2_5'Flank|TM7SF2_uc010rny.1_5'Flank|TM7SF2_uc001ocu.2_5'Flank|TM7SF2_uc001ocv.2_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.R639C	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	763					lipid transport|protein transport	Golgi apparatus|integral to membrane					0						TGCTGCCCTGCGCTGCCCAGA	0.642													T	64878997	C	T	64878997	3	4	8	1	0	0	0	0	1	0	0	0	1633	768	27	1	2325	1	C11orf2	11	64878997	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	450703	64878997	70127519	1009	8031											
C11orf68	83638	broad.mit.edu	37	chr11	65684985	65684985	+	Frame_Shift_Del	DEL	C	C	-													ctcgggagccacgggcactaCccccaagctggaaacggctc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:65684984_65684984AC>A	uc001ogi.3	-	1	857	c.828_828GT>T	c.(826-828)ggtfs	p.G276fs	C11orf68_uc009yqv.3_Frame_Shift_Del_p.G275fs|DRAP1_uc001ogj.2_5'Flank	NM_001135635	NP_001129107	Q9H3H3	CK068_HUMAN	Homo sapiens chromosome 11 open reading frame 68 (C11orf68), transcript variant 1, mRNA.	234										large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		CACGGGCACTACCCCCAAGCT	0.617													-	65684985	C	-	65684985	7	5	8	1	0	1	0	1	0	0	0	0	1658	507	18	0	58	0	C11orf68	11	65684985	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	805988	65684985	69321531	1010	8032											
PELI3	246330	broad.mit.edu	37	chr11	66241301	66241301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acccggcaggcggcttctccGaggactcagccccgggtgtc	14	16	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:66241301G>A	uc001oic.3	+	7	909	c.745G>A	c.(745-747)GAG>AAG	p.E249K	PELI3_uc001oib.2_Missense_Mutation_p.E249K|PELI3_uc001oid.3_Missense_Mutation_p.E225K|PELI3_uc001oie.3_Missense_Mutation_p.E100K|PELI3_uc010rpd.1_Missense_Mutation_p.E90K	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN	pellino 3 alpha isoform 1	249						cytosol	protein binding			ovary(1)	1						CGGCTTCTCCGAGGACTCAGC	0.652													A	66241301	G	A	66241301	3	1	8	1	0	0	0	0	1	0	0	0	11723	1059	37	1	767	1	PELI3	11	66241301	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	556316	66241301	68765215	1011	8033											
DPP3	10072	broad.mit.edu	37	chr11	66262922	66262922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagtgccgggctgagagCgtgggtctctacctctgtct	15	10	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:66262922C>T	uc001oig.1	+	14	1601	c.1539C>T	c.(1537-1539)AGC>AGT	p.S513S	DPP3_uc001oif.1_Silent_p.S513S|DPP3_uc010rpe.1_Silent_p.S502S|DPP3_uc001oih.1_5'Flank	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	513					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2						GGGCTGAGAGCGTGGGTCTCT	0.642													T	66262922	C	T	66262922	2	4	8	1	0	0	0	0	0	0	0	1	4728	767	27	1		1	DPP3	11	66262922	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	21621	66262922	68743594	1012	8034											
SSH3	54961	broad.mit.edu	37	chr11	67076941	67076941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcacctaccacaatgtgCgcctctgggatgaggagtcg	12	12	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:67076941C>T	uc001okj.2	+	11	1313	c.1135C>T	c.(1135-1137)CGC>TGC	p.R379C	SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Missense_Mutation_p.R233C	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3	379	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCACAATGTGCGCCTCTGGGA	0.617													T	67076941	C	T	67076941	3	4	8	1	0	0	0	0	1	0	0	0	15185	768	27	1	1177	1	SSH3	11	67076941	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	814019	67076941	67929575	1013	8035											
CARNS1	57571	broad.mit.edu	37	chr11	67191613	67191613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctcgatggagtcttcaaCgtggagctcaagctgaccgg	13	10	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:67191613C>T	uc009yrp.2	+	9	2477	c.2025C>T	c.(2023-2025)AAC>AAT	p.N675N	PPP1CA_uc001okx.1_5'Flank|CARNS1_uc001olc.3_Silent_p.N814N	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	ATP-grasp domain containing 1	675	ATP-grasp.				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding				0						GAGTCTTCAACGTGGAGCTCA	0.627													T	67191613	C	T	67191613	2	4	8	1	0	0	0	0	0	0	0	1	2656	535	19	1		1	CARNS1	11	67191613	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	114672	67191613	67814903	1014	8036											
SUV420H1	51111	broad.mit.edu	37	chr11	67925937	67925937	+	Frame_Shift_Del	DEL	T	T	-													cactggagtagattcctctaTttttgcaaactgtttcacaa							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:67925936_67925936AT>A	uc001onm.1	-	10	2133	c.1877_1877AT>T	c.(1876-1878)atafs	p.I626fs	SUV420H1_uc009yse.1_Frame_Shift_Del_p.I212fs|SUV420H1_uc001onn.1_Frame_Shift_Del_p.I454fs|SUV420H1_uc009ysf.2_Frame_Shift_Del_p.I386fs	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AGATTCCTCTATTTTTGCAAA	0.478													-	67925937	T	-	67925937	7	5	8	1	0	1	0	1	0	0	0	0	15411	1493	52	0	785	0	SUV420H1	11	67925937	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	734324	67925937	67080579	1015	8037											
CPT1A	1374	broad.mit.edu	37	chr11	68582821	68582821	+	Frame_Shift_Del	DEL	T	T	-													ccttgaatctgatgaacttcTttttccaggaatgaagtcca							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:68582820_68582820CT>C	uc001oog.4	-	1	293	c.123_123AG>G	c.(121-123)aagfs	p.K41fs	CPT1A_uc001oof.4_Frame_Shift_Del_p.K41fs	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	41					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	TGATGAACTTCTTTTTCCAGG	0.448													-	68582821	T	-	68582821	7	5	8	1	0	1	0	1	0	0	0	0	3831	1609	56	0	2311	0	CPT1A	11	68582821	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	656884	68582821	66423695	1016	8038											
NUMA1	4926	broad.mit.edu	37	chr11	71725087	71725087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgctcagcccgggaggcCcgctcagcctcgaggctgcg	14	18	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:71725087C>T	uc001orl.1	-	15	3634	c.3462G>A	c.(3460-3462)CGG>CGA	p.R1154R	NUMA1_uc009ysw.1_Silent_p.R717R|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.R1154R|NUMA1_uc001orn.2_Silent_p.R717R|NUMA1_uc009ysx.1_Silent_p.R1154R|NUMA1_uc001oro.1_Silent_p.R1154R	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1154	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						CCCGGGAGGCCCGCTCAGCCT	0.647			T	RARA	APL								T	71725087	C	T	71725087	2	4	8	1	0	0	0	0	0	0	0	1	10750	610	22	4		4	NUMA1	11	71725087	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	3142266	71725087	63281429	1017	8039											
NUMA1	4926	broad.mit.edu	37	chr11	71725245	71725245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggctcctgagccagatgCgtgctccttttctttcttag	10	11	2	2	rs140741340	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:71725245C>T	uc001orl.1	-	15	3476	c.3304G>A	c.(3304-3306)GCA>ACA	p.A1102T	NUMA1_uc009ysw.1_Missense_Mutation_p.A665T|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.A1102T|NUMA1_uc001orn.2_Missense_Mutation_p.A665T|NUMA1_uc009ysx.1_Missense_Mutation_p.A1102T|NUMA1_uc001oro.1_Missense_Mutation_p.A1102T	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1102	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						GAGCCAGATGCGTGCTCCTTT	0.577			T	RARA	APL								T	71725245	C	T	71725245	3	4	8	1	0	0	0	0	1	0	0	0	10750	768	27	1	3095	1	NUMA1	11	71725245	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	158	71725245	63281271	1018	8040											
C11orf51	25906	broad.mit.edu	37	chr11	71821248	71821248	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcatcatcttcatcatcCtcttcttcctcgtcatcata	1	16	9	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:71821248C>A	uc001orw.2	-	5	426	c.204G>T	c.(202-204)GAG>GAT	p.E68D	LRTOMT_uc010rqv.1_3'UTR|LRTOMT_uc010rqw.1_3'UTR|LRTOMT_uc001ors.3_3'UTR|C11orf51_uc009ytc.1_Missense_Mutation_p.E59D|C11orf51_uc001orv.2_Missense_Mutation_p.E68D	NM_014042	NP_054761	P60006	CK051_HUMAN	hypothetical protein LOC25906	68	Asp-rich.					intracellular					0						cttcatcatcctcttcttcct	0.348													A	71821248	C	A	71821248	3	1	8	1	0	0	0	0	1	0	0	0	1646	680	24	5	169	5	C11orf51	11	71821248	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	96003	71821248	63185268	1019	8041											
INPPL1	3636	broad.mit.edu	37	chr11	71948748	71948748	+	Frame_Shift_Del	DEL	C	C	-													caggccccctggagctgcagCccccccggggactgccctcg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:71948748delC	uc001osf.2	+	26	3607	c.3460delC	c.(3460-3462)CCCfs	p.P1154fs	INPPL1_uc001osg.2_Frame_Shift_Del_p.P912fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1154					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						GGAGCTGCAGCCCCCCCGGGG	0.697													-	71948748	C	-	71948748	7	5	8	1	0	1	0	1	0	0	0	0	7761	739	26	0	3562	0	INPPL1	11	71948748	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	127500	71948748	63057768	1020	8042											
RELT	84957	broad.mit.edu	37	chr11	73106159	73106159	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggctcgaattcctgagcaGcggacaagttcaatggtgtc	13	9	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:73106159G>A	uc001otv.2	+	10	1239	c.1074G>A	c.(1072-1074)CAG>CAA	p.Q358Q	RELT_uc001otw.2_Silent_p.Q358Q|RELT_uc001otx.2_RNA	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor precursor	358	Cytoplasmic (Potential).					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			upper_aerodigestive_tract(1)	1						tTCCTGAGCAGCGGACAAGTT	0.348													A	73106159	G	A	73106159	2	1	8	1	0	0	0	0	0	0	0	1	13221	962	34	2		2	RELT	11	73106159	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1157411	73106159	61900357	1021	8043											
C2CD3	26005	broad.mit.edu	37	chr11	73789381	73789381	+	Frame_Shift_Del	DEL	T	T	-													tgaaagtgaccataatctgcTttttgtttacagattcctta							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:73789380_73789380CT>C	uc001ouu.2	-	22	4610	c.4383_4383AG>G	c.(4381-4383)aagfs	p.K1461fs	C2CD3_uc001out.3_Non-coding_Transcript	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1461						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CCATAATCTGCTTTTTGTTTA	0.438													-	73789381	T	-	73789381	7	5	8	1	0	1	0	1	0	0	0	0	2154	1609	56	0	1545	0	C2CD3	11	73789381	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	683222	73789381	61217135	1022	8044											
RSF1	51773	broad.mit.edu	37	chr11	77386207	77386207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgtcgcctcagtctacGgctacaaaagtcagtgtcac	12	11	4	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:77386207G>A	uc001oyn.2	-	14	3556	c.3436C>T	c.(3436-3438)CGT>TGT	p.R1146C	RSF1_uc001oym.2_Missense_Mutation_p.R894C	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1146	Arg-rich.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTCAGTCTACGGCTACAAAAG	0.468													A	77386207	G	A	77386207	3	1	8	1	0	0	0	0	1	0	0	0	13699	1116	39	1	901	1	RSF1	11	77386207	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3596826	77386207	57620309	1023	8045											
ALG8	79053	broad.mit.edu	37	chr11	77835229	77835230	+	Frame_Shift_Ins	INS	-	-	G													ctcaaaccatgcaaagaaagINSgggggtaatccaacgtccac							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:77835228_77835229A>AG	uc001oza.1	-	2	271_272	c.206_207T>CT	c.(205-207)cctfs	p.P69fs	ALG8_uc001oyz.1_Frame_Shift_Ins_p.P69fs|ALG8_uc009yuy.1_Non-coding_Transcript	NM_024079	NP_076984	Q9BVK2	ALG8_HUMAN	Homo sapiens asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG8), transcript variant 1, mRNA.	69					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			ATGCAAAGAAAGGGGGGTAATC	0.366													G	77835230	-	G	77835229	7	5	8	1	0	1	1	0	0	0	0	0	523	1000	35	0	1477	0	ALG8	11	77835229	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	449022	77835229	57171287	1024	8046											
KCTD21	283219	broad.mit.edu	37	chr11	77884897	77884897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaagaatcgatgcagaagCcatcgctcagagcgattttc	11	9	1	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:77884897C>T	uc001ozb.2	-	2	779	c.704G>A	c.(703-705)GGC>GAC	p.G235D		NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	potassium channel tetramerisation domain	235						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GATGCAGAAGCCATCGCTCAG	0.473													T	77884897	C	T	77884897	3	4	8	1	0	0	0	0	1	0	0	0	8109	739	26	2	82	2	KCTD21	11	77884897	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	49668	77884897	57121619	1025	8047											
PRCP	5547	broad.mit.edu	37	chr11	82560971	82560971	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttaccagtatttgagagtcGattaatggcatcccaggacc	9	10	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:82560971G>A	uc001ozs.2	-	5	849	c.736C>T	c.(736-738)CGA>TGA	p.R246*	PRCP_uc001ozr.2_Nonsense_Mutation_p.R267*	NM_005040	NP_005031	P42785	PCP_HUMAN	prolylcarboxypeptidase isoform 1 preproprotein	246	SKS domain.				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			skin(1)	1						TTTGAGAGTCGATTAATGGCA	0.353													A	82560971	G	A	82560971	4	1	8	1	0	0	0	0	0	1	0	0	12449	1066	37	1	774	1	PRCP	11	82560971	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4676074	82560971	52445545	1026	8048											
PCF11	51585	broad.mit.edu	37	chr11	82877219	82877219	+	Frame_Shift_Del	DEL	A	A	-													agagaagagaaaaactgcagAaaaaaaggataaagatgagc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:82877218_82877218GA>G	uc001ozx.4	+	4	1624	c.1279_1279GA>G	c.(1279-1281)gaafs	p.E427fs	PCF11_uc010rsu.1_Frame_Shift_Del_p.E427fs	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	427	Lys-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAAAACTGCAGAAAAAAAGGA	0.353													-	82877219	A	-	82877219	7	5	8	1	0	1	0	1	0	0	0	0	11573	246	9	0	1298	0	PCF11	11	82877219	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	316248	82877219	52129297	1027	8049											
CCDC83	220047	broad.mit.edu	37	chr11	85622403	85622403	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaaaatttggtgcttattgAtcaactatccaactgtagac	7	7	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:85622403A>T	uc001pbh.1	+	8	1264	c.752A>T	c.(751-753)GAT>GTT	p.D251V	CCDC83_uc001pbg.1_Missense_Mutation_p.D251V|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.D152V	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	251	Potential.									skin(1)	1		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GTGCTTATTGATCAACTATCC	0.333													T	85622403	A	T	85622403	3	4	8	1	0	0	0	0	1	0	0	0	2857	333	12	5	778	5	CCDC83	11	85622403	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	2745184	85622403	49384113	1028	8050											
CCDC81	60494	broad.mit.edu	37	chr11	86123507	86123507	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaatattcccggagtctcCtgaaacaaatggataacaga	9	8	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:86123507C>A	uc001pbx.1	+	11	1725	c.1297C>A	c.(1297-1299)CTG>ATG	p.L433M	CCDC81_uc001pbw.1_Missense_Mutation_p.L343M|CCDC81_uc010rtq.1_Missense_Mutation_p.L216M|CCDC81_uc001pby.1_Missense_Mutation_p.L168M	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81 isoform 1	433										skin(1)	1		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CCGGAGTCTCCTGAAACAAAT	0.428													A	86123507	C	A	86123507	3	1	8	1	0	0	0	0	1	0	0	0	2855	680	24	5	1339	5	CCDC81	11	86123507	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	501104	86123507	48883009	1029	8051											
CTSC	1075	broad.mit.edu	37	chr11	88068108	88068108	+	Frame_Shift_Del	DEL	A	A	-													cttccaacaaaactaaccttAaaaaaggcaaaccacttgta							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:88068107_88068107TA>T	uc001pck.4	-	1	417	c.316_316TA>A	c.(316-318)aagfs	p.K106fs	CTSC_uc001pcl.4_5'UTR|CTSC_uc001pcm.4_Frame_Shift_Del_p.K106fs|CTSC_uc001pcn.4_Frame_Shift_Del_p.K106fs	NM_001814	NP_001805	P53634	CATC_HUMAN	Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA.	106					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAACTAACCTTAAAAAAGGCA	0.338													-	88068108	A	-	88068108	7	5	8	1	0	1	0	1	0	0	0	0	4031	359	13	0	1231	0	CTSC	11	88068108	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	1944601	88068108	46938408	1030	8052											
CEP57	9702	broad.mit.edu	37	chr11	95564282	95564282	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacagcagcagccgttctggAatcacagggaccacaaataa	9	11	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:95564282A>G	uc001pfp.1	+	11	1586	c.1365A>G	c.(1363-1365)GGA>GGG	p.G455G	CEP57_uc010ruh.1_Silent_p.G446G|CEP57_uc010rui.1_Silent_p.G429G|CEP57_uc009ywn.1_Silent_p.G303G|CEP57_uc001pfq.1_Silent_p.G429G|CEP57_uc001pfr.1_Silent_p.G303G	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN	translokin	455	Mediates interaction with microtubules (By similarity).|Potential.				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCCGTTCTGGAATCACAGGGA	0.378									Mosaic_Variegated_Aneuploidy_Syndrome				G	95564282	A	G	95564282	2	3	8	1	0	0	0	0	0	0	0	1	3256	233	9	3		3	CEP57	11	95564282	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	7496174	95564282	39442234	1031	8053											
CNTN5	53942	broad.mit.edu	37	chr11	100211310	100211310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatacgttatatcacttcaCagtgagggcttacaatggag	9	7	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:100211310C>T	uc001pga.2	+	22	3185	c.2846C>T	c.(2845-2847)ACA>ATA	p.T949I	CNTN5_uc001pgb.2_Missense_Mutation_p.T875I|CNTN5_uc010ruk.1_Missense_Mutation_p.T220I	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	949	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TATCACTTCACAGTGAGGGCT	0.443													T	100211310	C	T	100211310	3	4	8	1	0	0	0	0	1	0	0	0	3644	478	17	4	2924	4	CNTN5	11	100211310	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	4647028	100211310	34795206	1032	8054											
DYNC2H1	79659	broad.mit.edu	37	chr11	103090682	103090682	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagaacttgaaagactgaaGcacagaatagcagaagaagt	10	6	0	7			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:103090682G>T	uc001pho.2	+	56	9015	c.8871G>T	c.(8869-8871)AAG>AAT	p.K2957N	DYNC2H1_uc001phn.1_Missense_Mutation_p.K2957N|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2957	Potential.|Stalk (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AAAGACTGAAGCACAGAATAG	0.269													T	103090682	G	T	103090682	3	4	8	1	0	0	0	0	1	0	0	0	4846	962	34	5	9093	5	DYNC2H1	11	103090682	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2879372	103090682	31915834	1033	8055											
DYNC2H1	79659	broad.mit.edu	37	chr11	103128425	103128425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaattaataacatgtaccGttttagtttggctgcttttc	6	7	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:103128425G>A	uc001pho.2	+	69	10694	c.10550G>A	c.(10549-10551)CGT>CAT	p.R3517H	DYNC2H1_uc001phn.1_Missense_Mutation_p.R3524H|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3517					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AACATGTACCGTTTTAGTTTG	0.428													A	103128425	G	A	103128425	3	1	8	1	0	0	0	0	1	0	0	0	4846	1145	40	1	10849	1	DYNC2H1	11	103128425	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	37743	103128425	31878091	1034	8056											
NPAT	4863	broad.mit.edu	37	chr11	108031665	108031665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagatttttactagaaggaCgagagtttcgctcacgttca	9	7	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:108031665C>T	uc001pjz.3	-	17	4250	c.4148G>A	c.(4147-4149)CGT>CAT	p.R1383H	NPAT_uc010rvv.1_Missense_Mutation_p.R439H	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	1383					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ACTAGAAGGACGAGAGTTTCG	0.333													T	108031665	C	T	108031665	3	4	8	1	0	0	0	0	1	0	0	0	10566	536	19	1	143	1	NPAT	11	108031665	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	4903240	108031665	26974851	1035	8057											
ZC3H12C	85463	broad.mit.edu	37	chr11	110035762	110035762	+	Frame_Shift_Del	DEL	C	C	-													tgaccggtcctatgtcagctCccccgacccacagctagagg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:110035761_110035761TC>T	uc010rwc.2	+	5	1954	c.1954_1954TC>T	c.(1954-1956)tccfs	p.S652fs	ZC3H12C_uc009yxw.3_Frame_Shift_Del_p.S651fs|ZC3H12C_uc010rwd.2_Frame_Shift_Del_p.S652fs|ZC3H12C_uc001pkr.4_Frame_Shift_Del_p.S620fs	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.	651							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CTATGTCAGCTCCCCCGACCC	0.527													-	110035762	C	-	110035762	7	5	8	1	0	1	0	1	0	0	0	0	17560	855	30	0	1974	0	ZC3H12C	11	110035762	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	2004097	110035762	24970754	1036	8058											
FDXACB1	91893	broad.mit.edu	37	chr11	111745971	111745971	+	Frame_Shift_Del	DEL	T	T	-													ctattttgccagggacaaaaTttttcaggaaacggttatca							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:111745970_111745970AT>A	uc001pmc.4	-	4	1876	c.1551_1551AT>T	c.(1549-1551)aatfs	p.N517fs	ALG9_uc010rwo.2_Intron|FDXACB1_uc009yyi.3_Frame_Shift_Del_p.N368fs	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	Homo sapiens ferredoxin-fold anticodon binding domain containing 1 (FDXACB1), transcript variant 1, mRNA.	517					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						CAGGGACAAAATTTTTCAGGA	0.378													-	111745971	T	-	111745971	7	5	8	1	0	1	0	1	0	0	0	0	5806	1493	52	0	328	0	FDXACB1	11	111745971	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	1710209	111745971	23260545	1037	8059											
DLAT	1737	broad.mit.edu	37	chr11	111922036	111922036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggcatgtttaaaagttcccGaagcaaattcttcttggatg	9	7	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:111922036G>A	uc001pmo.2	+	11	2136	c.1477G>A	c.(1477-1479)GAA>AAA	p.E493K	DLAT_uc009yyk.1_Missense_Mutation_p.E388K|DLAT_uc010rwr.1_Missense_Mutation_p.E366K	NM_001931	NP_001922	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase precursor	493	Catalytic (By similarity).				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding				0		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	AAAAGTTCCCGAAGCAAATTC	0.348													A	111922036	G	A	111922036	3	1	8	1	0	0	0	0	1	0	0	0	4549	1059	37	1	1519	1	DLAT	11	111922036	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	176065	111922036	23084480	1038	8060											
BCO2	83875	broad.mit.edu	37	chr11	112071414	112071414	+	Frame_Shift_Del	DEL	G	G	-													aattgccacttctaaaattcGgggaaaggccttttcagatg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:112071413_112071413CG>C	uc001pnf.3	+	6	1060	c.943_943CG>C	c.(943-945)cggfs	p.R315fs	BCO2_uc001pne.1_Frame_Shift_Del_p.R142fs|BCO2_uc001png.3_Frame_Shift_Del_p.R242fs|BCO2_uc001pnh.3_Frame_Shift_Del_p.R281fs|BCO2_uc010rwt.2_Frame_Shift_Del_p.R210fs|BCO2_uc009yyn.3_Frame_Shift_Del_p.R281fs|BCO2_uc001pni.3_Frame_Shift_Del_p.R281fs	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	315					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TTCTAAAATTCGGGGAAAGGC	0.408													-	112071414	G	-	112071414	7	5	8	1	0	1	0	1	0	0	0	0	1385	1116	39	0	970	0	BCO2	11	112071414	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	149378	112071414	22935102	1039	8061											
DRD2	1813	broad.mit.edu	37	chr11	113286314	113286314	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accacgaaggccgggttggcAatgatgcactcgttctggtc	13	11	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:113286314A>G	uc001pnz.2	-	4	873	c.552T>C	c.(550-552)ATT>ATC	p.I184I	DRD2_uc010rwv.1_Silent_p.I183I|DRD2_uc001poa.3_Silent_p.I184I|DRD2_uc001pob.3_Silent_p.I184I|DRD2_uc009yyr.1_Silent_p.I184I	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	184	Extracellular (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CCGGGTTGGCAATGATGCACT	0.582													G	113286314	A	G	113286314	2	3	8	1	0	0	0	0	0	0	0	1	4757	126	5	3		3	DRD2	11	113286314	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1214900	113286314	21720202	1040	8062											
NNMT	4837	broad.mit.edu	37	chr11	114168792	114168792	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actactcagaccagaacctgCaggagctggagaagtggctg	13	10	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:114168792C>T	uc001por.1	+	4	538	c.274C>T	c.(274-276)CAG>TAG	p.Q92*	NNMT_uc001pos.1_Nonsense_Mutation_p.Q92*	NM_006169	NP_006160	P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	92					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			ovary(1)	1		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CCAGAACCTGCAGGAGCTGGA	0.517													T	114168792	C	T	114168792	4	4	8	1	0	0	0	0	0	1	0	0	10509	711	25	2	280	2	NNMT	11	114168792	Nonsense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	882478	114168792	20837724	1041	8063											
DSCAML1	57453	broad.mit.edu	37	chr11	117651330	117651330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggggtagagctgcagcGtcccgttggcgtggacgtgc	18	9	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:117651330G>A	uc001prh.1	-	2	424	c.422C>T	c.(421-423)ACG>ATG	p.T141M	DSCAML1_uc001pri.1_Translation_Start_Site	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	81	Extracellular (Potential).|Ig-like C2-type 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GAGCTGCAGCGTCCCGTTGGC	0.657													A	117651330	G	A	117651330	3	1	8	1	0	0	0	0	1	0	0	0	4769	1145	40	1	6047	1	DSCAML1	11	117651330	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3482538	117651330	17355186	1042	8064											
TMPRSS4	56649	broad.mit.edu	37	chr11	117985906	117985906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggtcattgacagcacaCggtgcaatgcagacgatgcg	12	11	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:117985906C>T	uc010rxo.1	+	11	1354	c.1063C>T	c.(1063-1065)CGG>TGG	p.R355W	TMPRSS4_uc010rxp.1_Missense_Mutation_p.R350W|TMPRSS4_uc010rxq.1_Missense_Mutation_p.R208W|TMPRSS4_uc010rxr.1_Missense_Mutation_p.R330W|TMPRSS4_uc010rxs.1_Missense_Mutation_p.R315W|TMPRSS4_uc009yzu.2_Intron|TMPRSS4_uc010rxt.1_Missense_Mutation_p.R330W	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4 isoform 1	355	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TGACAGCACACGGTGCAATGC	0.577													T	117985906	C	T	117985906	3	4	8	1	0	0	0	0	1	0	0	0	16246	527	19	1	1105	1	TMPRSS4	11	117985906	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	334576	117985906	17020610	1043	8065											
CD3E	916	broad.mit.edu	37	chr11	118183570	118183570	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgaacttttatctctaccTgagggcaagaggtaatccag	10	9	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:118183570T>C	uc001psq.3	+	6	597	c.341T>C	c.(340-342)CTG>CCG	p.L114P	CD3E_uc010rya.1_Missense_Mutation_p.L114P	NM_000733	NP_000724	P07766	CD3E_HUMAN	CD3E antigen, epsilon polypeptide precursor	114	Extracellular (Potential).				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity			ovary(2)	2	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	TATCTCTACCTGAGGGCAAGA	0.473													C	118183570	T	C	118183570	3	2	8	1	0	0	0	0	1	0	0	0	3011	1580	55	3	359	3	CD3E	11	118183570	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	197664	118183570	16822946	1044	8066											
OAF	220323	broad.mit.edu	37	chr11	120096485	120096485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagatcatccccagtgaggCcatggccaagctccggcagg	13	13	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:120096485C>T	uc001pxb.2	+	2	588	c.347C>T	c.(346-348)GCC>GTC	p.A116V		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	OAF homolog precursor	116											0		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		CCCAGTGAGGCCATGGCCAAG	0.672													T	120096485	C	T	120096485	3	4	8	1	0	0	0	0	1	0	0	0	10798	739	26	2	353	2	OAF	11	120096485	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1912915	120096485	14910031	1045	8067											
POU2F3	25833	broad.mit.edu	37	chr11	120187961	120187963	+	In_Frame_Del	DEL	AAC	AAC	-													cgtcatcctgttcccctgggAacaacagcaggccttcatct							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:120187960_120187962GAAC>G	uc021qrk.1	+	11	1198_1200	c.1164_1166GAAC>G	c.(1162-1167)gggaac>ggGc	p.N390del	POU2F3_uc001pxc.3_In_Frame_Del_p.N388del|POU2F3_uc010rzk.2_In_Frame_Del_p.N342del|POU2F3_uc010rzl.2_In_Frame_Del_p.N318del|POU2F3_uc001pxe.1_In_Frame_Del_p.N173del	NM_001244682	NP_001231611	Q9UKI9	PO2F3_HUMAN	Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA.	388	Ser-rich.		R -> K (in dbSNP:rs2282537).		negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	p.R390K(1)		large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GTTCCCCTGGGAACAACAGCAGG	0.542													-	120187963	AAC	-	120187961	7	5	8	1	0	1	0	1	0	0	0	0	12273	246	9	0	1205	0	POU2F3	11	120187961	In_Frame_Del	DEL	AAC	TCGA-BR-4201-01A-01D-1126-08	91476	120187961	14818555	1046	8068											
GRIK4	2900	broad.mit.edu	37	chr11	120702613	120702613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccttatctccaaggacacGctgtccgtccgcatgctgga	9	14	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:120702613G>A	uc001pxn.2	+	7	851	c.564G>A	c.(562-564)ACG>ACA	p.T188T	GRIK4_uc009zav.1_Silent_p.T188T|GRIK4_uc009zaw.1_Silent_p.T188T|GRIK4_uc009zax.1_Silent_p.T188T	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	188	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CCAAGGACACGCTGTCCGTCC	0.607													A	120702613	G	A	120702613	2	1	8	1	0	0	0	0	0	0	0	1	6776	1074	38	1		1	GRIK4	11	120702613	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	514652	120702613	14303903	1047	8069											
TBCEL	219899	broad.mit.edu	37	chr11	120925921	120925921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccttcactggataccctcGtcctggccaacaatcatttg	6	14	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:120925921G>A	uc009zay.2	+	5	694	c.616G>A	c.(616-618)GTC>ATC	p.V206I	TBCEL_uc001pxo.2_Missense_Mutation_p.V206I|TBCEL_uc001pxp.2_Missense_Mutation_p.V62I|TBCEL_uc001pxq.2_Intron	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	206	LRR 6.					cytoplasm|cytoskeleton				skin(1)	1		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		GGATACCCTCGTCCTGGCCAA	0.428													A	120925921	G	A	120925921	3	1	8	1	0	0	0	0	1	0	0	0	15632	1145	40	1	630	1	TBCEL	11	120925921	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	223308	120925921	14080595	1048	8070											
KCNJ1	3758	broad.mit.edu	37	chr11	128709289	128709289	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaggtagcactggtggActccactgtgccatctaaaa	11	10	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:128709289A>G	uc001qeo.1	-	2	958	c.907T>C	c.(907-909)TCC>CCC	p.S303P	KCNJ1_uc001qep.1_Missense_Mutation_p.S284P|KCNJ1_uc001qeq.1_Missense_Mutation_p.S284P|KCNJ1_uc001qer.1_Missense_Mutation_p.S284P|KCNJ1_uc001qes.1_Missense_Mutation_p.S284P	NM_000220	NP_000211	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel J1 isoform	303	Cytoplasmic (By similarity).				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			ovary(3)|breast(1)	4	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	GCACTGGTGGACTCCACTGTG	0.512													G	128709289	A	G	128709289	3	3	8	1	0	0	0	0	1	0	0	0	8043	275	10	3	272	3	KCNJ1	11	128709289	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	7783368	128709289	6297227	1049	8071											
KCNJ1	3758	broad.mit.edu	37	chr11	128709635	128709635	+	Frame_Shift_Del	DEL	T	T	-													aacgtaatggtcttggcacgTtttttgggcctggagatctt					rs138120505	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:128709634_128709634GT>G	uc001qeo.1	-	1	613	c.562_562AC>C	c.(562-564)cgtfs	p.R188fs	KCNJ1_uc001qep.1_Frame_Shift_Del_p.R169fs|KCNJ1_uc001qeq.1_Frame_Shift_Del_p.R169fs|KCNJ1_uc001qer.1_Frame_Shift_Del_p.R169fs|KCNJ1_uc001qes.1_Frame_Shift_Del_p.R169fs|KCNJ1_uc021qsb.1_Frame_Shift_Del_p.R169fs	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	188					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	GTCTTGGCACGTTTTTTGGGC	0.463													-	128709635	T	-	128709635	7	5	8	1	0	1	0	1	0	0	0	0	8043	1722	60	0	618	0	KCNJ1	11	128709635	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	346	128709635	6296881	1050	8072											
ARHGAP32	9743	broad.mit.edu	37	chr11	128842510	128842510	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcagtggtgggttgttcAgccacatcccagctggcttc	12	12	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:128842510A>G	uc009zcp.2	-	21	3849	c.3849T>C	c.(3847-3849)GCT>GCC	p.A1283A	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.A242A|ARHGAP32_uc001qez.2_Silent_p.A934A	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1283					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						TGGGTTGTTCAGCCACATCCC	0.562													G	128842510	A	G	128842510	2	3	8	1	0	0	0	0	0	0	0	1	881	175	7	3		3	ARHGAP32	11	128842510	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	132875	128842510	6164006	1051	8073											
PRDM10	56980	broad.mit.edu	37	chr11	129827738	129827738	+	Frame_Shift_Del	DEL	G	G	-													ccgtgtacaccacctgctgtGgggggcgaacctggtcatcg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:129827737_129827737TG>T	uc001qfm.3	-	2	370	c.138_138CA>A	c.(136-138)ccafs	p.P46fs	PRDM10_uc001qfn.3_Frame_Shift_Del_p.P46fs|PRDM10_uc009zct.1_Frame_Shift_Del_p.P46fs	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CCACCTGCTGTGGGGGGCGAA	0.542													-	129827738	G	-	129827738	7	5	8	1	0	1	0	1	0	0	0	0	12451	1348	47	0	3461	0	PRDM10	11	129827738	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	985228	129827738	5178778	1052	8074											
APLP2	334	broad.mit.edu	37	chr11	129992333	129992333	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaccttcaaaggagatgacTacaatgaggagaatcctact	8	9	1	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:129992333T>C	uc010sby.1	+	6	1004	c.847T>C	c.(847-849)TAC>CAC	p.Y283H	APLP2_uc001qfp.2_Missense_Mutation_p.Y283H|APLP2_uc001qfq.2_Missense_Mutation_p.Y283H|APLP2_uc010sbz.1_Missense_Mutation_p.Y127H|APLP2_uc001qfr.2_Missense_Mutation_p.Y105H|APLP2_uc001qfs.2_Intron|APLP2_uc001qfv.2_Missense_Mutation_p.Y230H	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	283	Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AGGAGATGACTACAATGAGGA	0.363													C	129992333	T	C	129992333	3	2	8	1	0	0	0	0	1	0	0	0	779	1522	53	3	869	3	APLP2	11	129992333	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	164595	129992333	5014183	1053	8075											
LRTM2	654429	broad.mit.edu	37	chr12	1943444	1943444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcatgtagggggacgcttgGaccagcttgcctgcaccctg	14	12	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:1943444G>A	uc001qjt.2	+	5	1476	c.670G>A	c.(670-672)GAC>AAC	p.D224N	CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.D224N|LRTM2_uc010sdx.1_Missense_Mutation_p.D224N|LRTM2_uc001qjv.2_5'UTR	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	224	LRRCT.|Extracellular (Potential).					integral to membrane				large_intestine(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGGACGCTTGGACCAGCTTGC	0.592													A	1943444	G	A	1943444	3	1	8	1	0	0	0	0	1	0	0	0	9045	1174	41	4	680	4	LRTM2	12	1943444	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08		1943444	131908451	1054	8076											
CACNA1C	775	broad.mit.edu	37	chr12	2566787	2566787	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagatggggcaaacgctctCggagggaaaggggccggatt	18	8	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:2566787C>T	uc009zdu.1	+	5	985	c.672C>T	c.(670-672)CTC>CTT	p.L224L	CACNA1C_uc009zdv.1_Silent_p.L224L|CACNA1C_uc001qkb.2_Silent_p.L224L|CACNA1C_uc001qkc.2_Silent_p.L224L|CACNA1C_uc001qke.2_Silent_p.L224L|CACNA1C_uc001qkf.2_Silent_p.L224L|CACNA1C_uc001qjz.2_Silent_p.L224L|CACNA1C_uc001qkd.2_Silent_p.L224L|CACNA1C_uc001qkg.2_Silent_p.L224L|CACNA1C_uc009zdw.1_Silent_p.L224L|CACNA1C_uc001qkh.2_Silent_p.L224L|CACNA1C_uc001qkl.2_Silent_p.L224L|CACNA1C_uc001qkn.2_Silent_p.L224L|CACNA1C_uc001qko.2_Silent_p.L224L|CACNA1C_uc001qkp.2_Silent_p.L224L|CACNA1C_uc001qkr.2_Silent_p.L224L|CACNA1C_uc001qku.2_Silent_p.L224L|CACNA1C_uc001qkq.2_Silent_p.L224L|CACNA1C_uc001qks.2_Silent_p.L224L|CACNA1C_uc001qkt.2_Silent_p.L224L|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR|CACNA1C_uc001qkj.1_5'UTR|CACNA1C_uc001qkk.1_5'UTR|CACNA1C_uc001qkm.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	224	Extracellular (Potential).|I.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CAAACGCTCTCGGAGGGAAAG	0.552													T	2566787	C	T	2566787	2	4	8	1	0	0	0	0	0	0	0	1	2540	871	31	1		1	CACNA1C	12	2566787	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	623343	2566787	131285108	1055	8077											
CACNA1C	775	broad.mit.edu	37	chr12	2602496	2602496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgacaactttgccttcgccAtgctcacggtgttccagtgc	9	13	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:2602496A>G	uc009zdu.1	+	7	1370	c.1057A>G	c.(1057-1059)ATG>GTG	p.M353V	CACNA1C_uc009zdv.1_Missense_Mutation_p.M350V|CACNA1C_uc001qkb.2_Missense_Mutation_p.M353V|CACNA1C_uc001qkc.2_Missense_Mutation_p.M353V|CACNA1C_uc001qke.2_Missense_Mutation_p.M353V|CACNA1C_uc001qkf.2_Missense_Mutation_p.M353V|CACNA1C_uc001qjz.2_Missense_Mutation_p.M353V|CACNA1C_uc001qkd.2_Missense_Mutation_p.M353V|CACNA1C_uc001qkg.2_Missense_Mutation_p.M353V|CACNA1C_uc009zdw.1_Missense_Mutation_p.M353V|CACNA1C_uc001qkh.2_Missense_Mutation_p.M353V|CACNA1C_uc001qkl.2_Missense_Mutation_p.M353V|CACNA1C_uc001qkn.2_Missense_Mutation_p.M353V|CACNA1C_uc001qko.2_Missense_Mutation_p.M353V|CACNA1C_uc001qkp.2_Missense_Mutation_p.M353V|CACNA1C_uc001qkr.2_Missense_Mutation_p.M353V|CACNA1C_uc001qku.2_Missense_Mutation_p.M353V|CACNA1C_uc001qkq.2_Missense_Mutation_p.M353V|CACNA1C_uc001qks.2_Missense_Mutation_p.M353V|CACNA1C_uc001qkt.2_Missense_Mutation_p.M353V|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Missense_Mutation_p.M89V|CACNA1C_uc001qkj.1_Missense_Mutation_p.M89V|CACNA1C_uc001qkk.1_Missense_Mutation_p.M89V|CACNA1C_uc001qkm.1_Missense_Mutation_p.M89V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	353	I.|Extracellular (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGCCTTCGCCATGCTCACGGT	0.627													G	2602496	A	G	2602496	3	3	8	1	0	0	0	0	1	0	0	0	2540	217	8	3	1083	3	CACNA1C	12	2602496	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	35709	2602496	131249399	1056	8078											
EFCAB4B	84766	broad.mit.edu	37	chr12	3788267	3788267	+	Splice_Site	DEL	G	G	-													ggctgaagaagaagtgacctGgggggtgcagggcacaagga							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:3788266_3788266TG>T	uc010sen.1	-	6	913	c.341_splice	c.e6-1	p.S114_splice	EFCAB4B_uc001qmj.2_Splice_Site_p.S114_splice	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	114	EF-hand 2.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			AGAAGTGACCTGGGGGGTGCA	0.522													-	3788267	G	-	3788267	8	5	8	1	0	1	0	1	0	0	1	0	4937	1363	47	0		0	EFCAB4B	12	3788267	Splice_Site	DEL	G	TCGA-BR-4201-01A-01D-1126-08	1185771	3788267	130063628	1057	8079											
CCND2	894	broad.mit.edu	37	chr12	4385203	4385203	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagaagtgcgaagaagaggtCttccctctggccatgaatta	11	9	2	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:4385203C>T	uc001qmo.2	+	2	533	c.228C>T	c.(226-228)GTC>GTT	p.V76V		NM_001759	NP_001750	P30279	CCND2_HUMAN	cyclin D2	76	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1)	3			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			AAGAAGAGGTCTTCCCTCTGG	0.552			T	IGL@	NHL,CLL								T	4385203	C	T	4385203	2	4	8	1	0	0	0	0	0	0	0	1	2917	900	32	4		4	CCND2	12	4385203	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	596936	4385203	129466692	1058	8080											
ACRBP	84519	broad.mit.edu	37	chr12	6752705	6752705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacagtatggctggcatacCgacttcccgaaaccaaggat	10	11	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:6752705C>T	uc001qpu.1	-	6	1125	c.1077G>A	c.(1075-1077)TCG>TCA	p.S359S	ACRBP_uc010sfg.1_Silent_p.S326S	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	proacrosin binding protein sp32 precursor	359						acrosomal vesicle|extracellular region				central_nervous_system(1)	1						GCTGGCATACCGACTTCCCGA	0.542													T	6752705	C	T	6752705	2	4	8	1	0	0	0	0	0	0	0	1	170	666	23	1		1	ACRBP	12	6752705	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2367502	6752705	127099190	1059	8081											
MLF2	8079	broad.mit.edu	37	chr12	6861114	6861114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatccggcggctggcagGcctggtccctggcatgttgc	15	14	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:6861114G>A	uc010sfi.1	-	3	220	c.157C>T	c.(157-159)CCT>TCT	p.P53S	MLF2_uc001qqp.2_Missense_Mutation_p.P53S|MLF2_uc009zey.1_Missense_Mutation_p.P53S	NM_005439	NP_005430	Q15773	MLF2_HUMAN	myeloid leukemia factor 2	53					defense response	cytoplasm|nucleus	protein binding			large_intestine(1)	1						CGGCTGGCAGGCCTGGTCCCT	0.507													A	6861114	G	A	6861114	3	1	8	1	0	0	0	0	1	0	0	0	9616	1203	42	2	613	2	MLF2	12	6861114	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	108409	6861114	126990781	1060	8082											
TPI1	7167	broad.mit.edu	37	chr12	6978878	6978878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggactggagcaaggtcGtcctggcctatgagcctgtg	15	9	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:6978878G>A	uc001qrk.2	+	5	522	c.484G>A	c.(484-486)GTC>ATC	p.V162I	TPI1_uc010sfo.1_Missense_Mutation_p.V80I	NM_000365	NP_000356	P60174	TPIS_HUMAN	triosephosphate isomerase 1 isoform 1	162					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity				0						GAGCAAGGTCGTCCTGGCCTA	0.587											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	6978878	G	A	6978878	3	1	8	1	0	0	0	0	1	0	0	0	16400	1145	40	1	613	1	TPI1	12	6978878	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	117764	6978878	126873017	1061	8083											
ATN1	1822	broad.mit.edu	37	chr12	7045865	7045866	+	In_Frame_Ins	INS	-	-	CATCAC													ccacccaccagtctcaacacINSatcaccatcaccaccagcaa							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:7045864_7045865A>ACATCAC	uc001qrw.1	+	4	1671_1672	c.1434_1435A>ACATCAC	c.(1432-1437)acacat>acACATCACat	p.483_484insH	ATN1_uc001qrx.1_In_Frame_Ins_p.483_484insH|ATN1_uc001qry.1_In_Frame_Ins_p.482_483insH	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	483	Poly-His.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CAGTCTCAACACATCACCATCA	0.634													CATCAC	7045866	-	CATCAC	7045865	7	5	8	1	0	1	1	0	0	0	0	0	1111	478	17	0	1449	0	ATN1	12	7045865	In_Frame_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	66987	7045865	126806030	1062	8084											
NECAP1	25977	broad.mit.edu	37	chr12	8245544	8245544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgagcttactcccaccccCgccaggaggcaaagtcacta	8	16	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:8245544C>T	uc001qtx.2	+	6	647	c.569C>T	c.(568-570)CCG>CTG	p.P190L	NECAP1_uc001qty.2_Missense_Mutation_p.P48L	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	190					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				ovary(1)	1				Kidney(36;0.0915)		CTCCCACCCCCGCCAGGAGGC	0.512													T	8245544	C	T	8245544	3	4	8	1	0	0	0	0	1	0	0	0	10307	652	23	1	591	1	NECAP1	12	8245544	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1199679	8245544	125606351	1063	8085											
RIMKLB	57494	broad.mit.edu	37	chr12	8926004	8926004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggggatggatgtgtgtgGcattgatctgctgatgaaag	16	5	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:8926004G>A	uc001quu.2	+	6	1036	c.785G>A	c.(784-786)GGC>GAC	p.G262D	RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Missense_Mutation_p.G262D|RIMKLB_uc010sgl.1_Missense_Mutation_p.G262D|RIMKLB_uc001quw.2_Missense_Mutation_p.G262D	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family	262	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						GATGTGTGTGGCATTGATCTG	0.468													A	8926004	G	A	8926004	3	1	8	1	0	0	0	0	1	0	0	0	13366	1203	42	2	803	2	RIMKLB	12	8926004	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	680460	8926004	124925891	1064	8086											
A2M	2	broad.mit.edu	37	chr12	9246138	9246138	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgaggctcttcaacatgCaccaggcgtgcatggcctct	12	12	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:9246138C>T	uc001qvk.1	-	18	2276	c.2163G>A	c.(2161-2163)GTG>GTA	p.V721V	A2M_uc009zgk.1_Silent_p.V571V	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	721	Bait region.|Inhibitory.				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	CTTCAACATGCACCAGGCGTG	0.443													T	9246138	C	T	9246138	2	4	8	1	0	0	0	0	0	0	0	1	4	697	25	2		2	A2M	12	9246138	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	320134	9246138	124605757	1065	8087											
PZP	5858	broad.mit.edu	37	chr12	9305467	9305467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgggctttgtgtccatcGcaagtttggggcacagtctg	15	8	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:9305467G>A	uc001qvl.2	-	31	4103	c.4074C>T	c.(4072-4074)TGC>TGT	p.C1358C	PZP_uc009zgl.2_Silent_p.C1144C	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						TGTGTCCATCGCAAGTTTGGG	0.438													A	9305467	G	A	9305467	2	1	8	1	0	0	0	0	0	0	0	1	12869	1079	38	1		1	PZP	12	9305467	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	59329	9305467	124546428	1066	8088											
GABARAPL1	23710	broad.mit.edu	37	chr12	10374385	10374385	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcttatctcttcccctaGgacaatcatgaggaagacta	7	10	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:10374385G>A	uc001qxs.2	+	4	529	c.289_splice	c.e4-1	p.D97_splice	GABARAPL1_uc001qxt.2_Splice_Site|GABARAPL1_uc001qxu.2_Splice_Site	NM_031412	NP_113600	Q9H0R8	GBRL1_HUMAN	GABA(A) receptor-associated protein like 1							autophagic vacuole|endoplasmic reticulum|Golgi apparatus|membrane|microtubule	beta-tubulin binding|GABA receptor binding				0						TCTTCCCCTAGGACAATCATG	0.284													A	10374385	G	A	10374385	5	1	8	1	0	0	0	0	0	0	1	0	6153	1014	35	4	302	4	GABARAPL1	12	10374385	Splice_Site	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1068918	10374385	123477510	1067	8089											
STYK1	55359	broad.mit.edu	37	chr12	10772835	10772836	+	Frame_Shift_Del	DEL	AC	AC	-													caccaactctggtacttgtaAcacagcctcgtcatctgcag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:10772834_10772835AAC>A	uc001qys.2	-	10	1698_1699	c.1177_1178GTT>T	c.(1177-1179)ttafs	p.L393fs		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	393						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TGGTACTTGTAACACAGCCTCG	0.55										HNSCC(73;0.22)			-	10772836	AC	-	10772835	7	5	8	1	0	1	0	1	0	0	0	0	15358	40	2	0	95	0	STYK1	12	10772835	Frame_Shift_Del	DEL	AC	TCGA-BR-4201-01A-01D-1126-08	398450	10772835	123079060	1068	8090											
TAS2R50	259296	broad.mit.edu	37	chr12	11139175	11139175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttagcagcaagccacatGctgaaatggttggttacaac	11	8	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:11139175G>A	uc001qzl.2	-	1	337	c.285C>T	c.(283-285)AGC>AGT	p.S95S	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176890	NP_795371	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	95	Helical; Name=3; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(2)	2						CAAGCCACATGCTGAAATGGT	0.338													A	11139175	G	A	11139175	2	1	8	1	0	0	0	0	0	0	0	1	15581	1310	46	2		2	TAS2R50	12	11139175	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	366340	11139175	122712720	1069	8091											
PRB1	5542	broad.mit.edu	37	chr12	11506766	11506766	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttttcctggaggagatcGgggacttcgggacttgtccc	15	9	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:11506766G>A	uc001qzw.1	-	3	308	c.271C>T	c.(271-273)CGA>TGA	p.R91*	PRB1_uc001qzu.1_Nonsense_Mutation_p.R91*|PRB1_uc001qzv.1_Nonsense_Mutation_p.R91*	NM_005039	NP_005030	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1 isoform 1	152	5.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).|Missing (in allele M).			extracellular region					0			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGAGGAGATCGGGGACTTCGG	0.612													A	11506766	G	A	11506766	4	1	8	1	0	0	0	0	0	1	0	0	12442	1124	39	1	728	1	PRB1	12	11506766	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	367591	11506766	122345129	1070	8092											
MANSC1	54682	broad.mit.edu	37	chr12	12491444	12491444	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaataggtagcagttgggttGtctagctgtttttcgagtgt	13	4	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:12491444G>A	uc001rai.1	-	3	532	c.274C>T	c.(274-276)CAA>TAA	p.Q92*	MANSC1_uc010shm.1_Nonsense_Mutation_p.Q26*|MANSC1_uc001raj.1_Nonsense_Mutation_p.Q58*|MANSC1_uc009zht.1_Nonsense_Mutation_p.Q11*	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	MANSC domain containing 1 precursor	92	MANSC.|Extracellular (Potential).					integral to membrane					0		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CAGTTGGGTTGTCTAGCTGTT	0.393													A	12491444	G	A	12491444	4	1	8	1	0	0	0	0	0	1	0	0	9224	1386	48	4	1029	4	MANSC1	12	12491444	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	984678	12491444	121360451	1071	8093											
ATF7IP	55729	broad.mit.edu	37	chr12	14650841	14650841	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctcacaatggaaaaagaTtggggaagtcaaggcacttc	11	9	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:14650841T>C	uc001rbw.2	+	15	3805	c.3647T>C	c.(3646-3648)ATT>ACT	p.I1216T	ATF7IP_uc001rbx.2_Missense_Mutation_p.I1215T|ATF7IP_uc001rby.3_Missense_Mutation_p.I1216T|ATF7IP_uc001rca.2_Missense_Mutation_p.I1216T	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	1216	Interaction with MBD1.|Fibronectin type-III.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						TGGAAAAAGATTGGGGAAGTC	0.483													C	14650841	T	C	14650841	3	2	8	1	0	0	0	0	1	0	0	0	1087	1493	52	3	3701	3	ATF7IP	12	14650841	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	2159397	14650841	119201054	1072	8094											
ABCC9	10060	broad.mit.edu	37	chr12	22005044	22005044	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttaccttttctaattctTgatcttgccgattcataagt	4	10	4	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:22005044T>C	uc001rfi.1	-	22	2776	c.2756A>G	c.(2755-2757)CAA>CGA	p.Q919R	ABCC9_uc001rfh.2_Missense_Mutation_p.Q919R|ABCC9_uc001rfj.1_Missense_Mutation_p.Q883R	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	919	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTCTAATTCTTGATCTTGCCG	0.333													C	22005044	T	C	22005044	3	2	8	1	0	0	0	0	1	0	0	0	59	1812	63	3	2103	3	ABCC9	12	22005044	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	7354203	22005044	111846851	1073	8095											
ABCC9	10060	broad.mit.edu	37	chr12	22015949	22015949	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtagcatttaatagccaAggcttttgagctgcatatgc	9	8	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:22015949A>G	uc001rfi.1	-	18	2297	c.2277T>C	c.(2275-2277)CCT>CCC	p.P759P	ABCC9_uc001rfh.2_Silent_p.P759P|ABCC9_uc001rfj.1_Silent_p.P723P	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	759	Cytoplasmic (Potential).|ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTAATAGCCAAGGCTTTTGAG	0.338													G	22015949	A	G	22015949	2	3	8	1	0	0	0	0	0	0	0	1	59	59	3	3		3	ABCC9	12	22015949	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	10905	22015949	111835946	1074	8096											
SOX5	6660	broad.mit.edu	37	chr12	23893839	23893839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagctccatttgctgacGctgtttctcaatctgagagg	11	11	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:23893839G>A	uc001rfw.2	-	5	805	c.703C>T	c.(703-705)CGT>TGT	p.R235C	SOX5_uc001rfx.2_Missense_Mutation_p.R222C|SOX5_uc001rfy.2_Missense_Mutation_p.R222C|SOX5_uc010siv.1_Missense_Mutation_p.R222C|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.R187C	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	235	Potential.				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						ATTTGCTGACGCTGTTTCTCA	0.493													A	23893839	G	A	23893839	3	1	8	1	0	0	0	0	1	0	0	0	14954	1087	38	1	1642	1	SOX5	12	23893839	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1877890	23893839	109958056	1075	8097											
CASC1	55259	broad.mit.edu	37	chr12	25267796	25267796	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgatgccatcagttctccAatgtttacctttataattga	6	9	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:25267796A>G	uc001rgl.2	-	12	1469	c.1387T>C	c.(1387-1389)TGG>CGG	p.W463R	CASC1_uc001rgk.2_Missense_Mutation_p.W469R|CASC1_uc001rgm.3_Missense_Mutation_p.W527R|CASC1_uc001rgj.2_Missense_Mutation_p.W423R|CASC1_uc010sje.1_Missense_Mutation_p.W404R|CASC1_uc010sjf.1_Missense_Mutation_p.W351R|CASC1_uc010sjg.1_3'UTR	NM_001082973	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1 isoform b	463										ovary(2)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TCAGTTCTCCAATGTTTACCT	0.343													G	25267796	A	G	25267796	3	3	8	1	0	0	0	0	1	0	0	0	2660	130	5	3	779	3	CASC1	12	25267796	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1373957	25267796	108584099	1076	8098											
KRAS	3845	broad.mit.edu	37	chr12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggcactcttgcctacgCcaccagctccaactaccaca	5	18	2	0	rs112445441		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:25398281C>T	uc001rgp.1	-	2	219	c.38G>A	c.(37-39)GGC>GAC	p.G13D	KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	13	GTP.		G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).|G -> D (in a breast carcinoma cell line and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13D(2647)|p.G13C(182)|p.G13S(58)|p.G13R(41)|p.G13V(27)|p.G13A(24)|p.G13G(11)|p.G13E(4)|p.G12_G13insG(4)|p.G13N(3)|p.G13I(1)|p.G13_V14>DI(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(NCIH647_LUNG)|G13D(MDAMB231_BREAST)|G13D(NCIH747_LARGE_INTESTINE)|G13D(T84_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT15_LARGE_INTESTINE)|G13D(HCT116_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25398281	C	T	25398281	3	4	8	1	0	0	0	0	1	0	0	0	8438	739	26	2	668	2	KRAS	12	25398281	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	130485	25398281	108453614	1077	8099											
IFLTD1	160492	broad.mit.edu	37	chr12	25679780	25679780	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtttgtccattcacattttGctggagaatatgatctccaa	8	8	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:25679780G>T	uc001rgs.2	-	4	688	c.538C>A	c.(538-540)CAA>AAA	p.Q180K	IFLTD1_uc001rgt.1_Missense_Mutation_p.Q83K|IFLTD1_uc010sji.1_Missense_Mutation_p.Q201K|IFLTD1_uc010sjj.1_Missense_Mutation_p.Q117K|IFLTD1_uc009zjc.2_Missense_Mutation_p.Q201K	NM_152590	NP_689803	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	180						intermediate filament	structural molecule activity			ovary(2)|central_nervous_system(1)	3	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TTCACATTTTGCTGGAGAATA	0.373													T	25679780	G	T	25679780	3	4	8	1	0	0	0	0	1	0	0	0	7530	1328	46	5	648	5	IFLTD1	12	25679780	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	281499	25679780	108172115	1078	8100											
ARNTL2	56938	broad.mit.edu	37	chr12	27568857	27568857	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacaggtttaatgaaagatActcatactgtaaactgcagg	8	7	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:27568857A>G	uc001rht.1	+	15	1660	c.1642A>G	c.(1642-1644)ACT>GCT	p.T548A	ARNTL2_uc001rhw.2_Missense_Mutation_p.T511A|ARNTL2_uc010sjp.1_Missense_Mutation_p.T511A|ARNTL2_uc001rhu.1_Missense_Mutation_p.T534A|ARNTL2_uc009zji.1_Missense_Mutation_p.T514A|ARNTL2_uc001rhv.1_Missense_Mutation_p.T500A|uc001rhx.2_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear	548					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|skin(1)	2	Colorectal(261;0.0847)|Lung SC(9;0.184)					AATGAAAGATACTCATACTGT	0.264													G	27568857	A	G	27568857	3	3	8	1	0	0	0	0	1	0	0	0	968	391	14	3	1700	3	ARNTL2	12	27568857	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1889077	27568857	106283038	1079	8101											
PKP2	5318	broad.mit.edu	37	chr12	32996207	32996207	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacaggcgtgagccaccgcGcccggccagccattcctact	10	17	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:32996207G>A	uc001rlj.3	-	6	1534	c.1419C>T	c.(1417-1419)GGC>GGT	p.G473G	PKP2_uc001rlk.3_Intron|PKP2_uc010skj.1_Intron	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	473					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					gagccaccgcgcccggccAGC	0.199													A	32996207	G	A	32996207	2	1	8	1	0	0	0	0	0	0	0	1	11985	1074	38	1		1	PKP2	12	32996207	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	5427350	32996207	100855688	1080	8102											
ALG10	84920	broad.mit.edu	37	chr12	34179081	34179081	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgagctacaaaagaaggaagAcagacttccacctattaaag	8	8	0	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:34179081A>T	uc001rlm.2	+	3	972	c.653A>T	c.(652-654)GAC>GTC	p.D218V		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	asparagine-linked glycosylation 10 homolog	218	Cytoplasmic (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			skin(1)	1	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				AAGAAGGAAGACAGACTTCCA	0.378													T	34179081	A	T	34179081	3	4	8	1	0	0	0	0	1	0	0	0	511	275	10	5	663	5	ALG10	12	34179081	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1182874	34179081	99672814	1081	8103											
ADAMTS20	80070	broad.mit.edu	37	chr12	43846079	43846079	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacttatagtttacttaccaTacactggccttgaacacaga	5	10	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:43846079T>G	uc010skx.1	-	14	2077	c.2077A>C	c.(2077-2079)ATG>CTG	p.M693L		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	693	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTACTTACCATACACTGGCCT	0.313													G	43846079	T	G	43846079	3	3	8	1	0	0	0	0	1	0	0	0	266	1406	49	5	3758	5	ADAMTS20	12	43846079	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	9666998	43846079	90005816	1082	8104											
TMEM117	84216	broad.mit.edu	37	chr12	44605117	44605117	+	Frame_Shift_Del	DEL	A	A	-													aaaccctatcctgactggggAaaatcagcaagagctttctg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:44605116_44605116GA>G	uc001rod.3	+	4	620	c.554_554GA>G	c.(553-555)ggafs	p.G185fs	TMEM117_uc001roe.3_Frame_Shift_Del_p.G81fs|TMEM117_uc009zkc.3_Frame_Shift_Del_p.G185fs	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	Homo sapiens transmembrane protein 117 (TMEM117), mRNA.	185						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CCTGACTGGGGAAAATCAGCA	0.368													-	44605117	A	-	44605117	7	5	8	1	0	1	0	1	0	0	0	0	16028	233	9	0	569	0	TMEM117	12	44605117	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	759038	44605117	89246778	1083	8105											
PLEKHA9	51054	broad.mit.edu	37	chr12	45567083	45567083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtggtcaccttcctttaCggttaacgcggccacaaaat	9	13	1	0	rs150051178	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:45567083C>T	uc001rom.1	-	3	1603	c.1066G>A	c.(1066-1068)GTA>ATA	p.V356I	PLEKHA9_uc009zke.2_Missense_Mutation_p.V356I	NM_015899	NP_056983			pleckstrin homology domain containing, family A												0	Lung SC(27;0.192)|Renal(347;0.236)			GBM - Glioblastoma multiforme(48;0.173)		CCTTCCTTTACGGTTAACGCG	0.498													T	45567083	C	T	45567083	3	4	8	1	0	0	0	0	1	0	0	0	12063	536	19	1	113	1	PLEKHA9	12	45567083	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	961966	45567083	88284812	1084	8106											
PLEKHA9	51054	broad.mit.edu	37	chr12	45567160	45567160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacccctcgaactacccagCcatggtgttgccgcaatgtt	8	14	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:45567160C>T	uc001rom.1	-	3	1526	c.989G>A	c.(988-990)GGC>GAC	p.G330D	PLEKHA9_uc009zke.2_Missense_Mutation_p.G330D	NM_015899	NP_056983			pleckstrin homology domain containing, family A												0	Lung SC(27;0.192)|Renal(347;0.236)			GBM - Glioblastoma multiforme(48;0.173)		AACTACCCAGCCATGGTGTTG	0.443													T	45567160	C	T	45567160	3	4	8	1	0	0	0	0	1	0	0	0	12063	739	26	2	190	2	PLEKHA9	12	45567160	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	77	45567160	88284735	1085	8107											
ANO6	196527	broad.mit.edu	37	chr12	45803165	45803165	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgaatctaattgggcgaTttcacagagtttctggatca	9	7	5	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:45803165T>C	uc001roo.2	+	16	2241	c.1906T>C	c.(1906-1908)TTT>CTT	p.F636L	ANO6_uc010sld.1_Missense_Mutation_p.F636L|ANO6_uc010sle.1_Missense_Mutation_p.F636L|ANO6_uc010slf.1_Missense_Mutation_p.F657L|ANO6_uc010slg.1_Missense_Mutation_p.F618L	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	636	Extracellular (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						AATTGGGCGATTTCACAGAGT	0.373													C	45803165	T	C	45803165	3	2	8	1	0	0	0	0	1	0	0	0	701	1493	52	3	1988	3	ANO6	12	45803165	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	236005	45803165	88048730	1086	8108											
SLC38A1	81539	broad.mit.edu	37	chr12	46622973	46622973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtttgccagggcaaaggCgagtcccaaaatcccactgc	11	12	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:46622973C>T	uc001rpa.2	-	5	535	c.277G>A	c.(277-279)GCC>ACC	p.A93T	SLC38A1_uc001rpb.2_Missense_Mutation_p.A93T|SLC38A1_uc001rpc.2_Missense_Mutation_p.A93T|SLC38A1_uc001rpd.2_Missense_Mutation_p.A93T|SLC38A1_uc001rpe.2_Missense_Mutation_p.A93T|SLC38A1_uc010slh.1_Missense_Mutation_p.A66T|SLC38A1_uc009zkj.1_Missense_Mutation_p.A93T	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	amino acid transporter system A1	93	Helical; (Potential).				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			ovary(2)|skin(2)|central_nervous_system(1)	5	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AGGGCAAAGGCGAGTCCCAAA	0.408													T	46622973	C	T	46622973	3	4	8	1	0	0	0	0	1	0	0	0	14601	768	27	1	1238	1	SLC38A1	12	46622973	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	819808	46622973	87228922	1087	8109											
AMIGO2	347902	broad.mit.edu	37	chr12	47472385	47472386	+	Frame_Shift_Ins	INS	-	-	T													caactcttggaatacagcatINSttttcaccgtcttcagctta							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:47472384_47472385A>AT	uc001rpm.3	-	2	1056_1057	c.401_402T>AT	c.(400-402)aatfs	p.N134fs	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Frame_Shift_Ins_p.N134fs|AMIGO2_uc001rpl.3_Frame_Shift_Ins_p.N134fs|AMIGO2_uc021qxg.1_Frame_Shift_Ins_p.N134fs	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	134					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		p.N134fs*7(2)		endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GGAATACAGCATTTTTCACCGT	0.441													T	47472386	-	T	47472385	7	5	8	1	0	1	1	0	0	0	0	0	576	1493	52	0	1171	0	AMIGO2	12	47472385	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	849412	47472385	86379510	1088	8110											
FAM113B	91523	broad.mit.edu	37	chr12	47629502	47629502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacttgcatttccacttccGccacgcgagggagaacctgc	11	14	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:47629502G>A	uc001rpn.2	+	4	1387	c.656G>A	c.(655-657)CGC>CAC	p.R219H	FAM113B_uc010slj.1_Missense_Mutation_p.R99H|FAM113B_uc001rpq.2_Missense_Mutation_p.R219H	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	219							hydrolase activity			skin(3)|ovary(2)	5	Renal(347;0.138)|Lung SC(27;0.192)					TTCCACTTCCGCCACGCGAGG	0.602													A	47629502	G	A	47629502	3	1	8	1	0	0	0	0	1	0	0	0	5402	1087	38	1	658	1	FAM113B	12	47629502	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	157117	47629502	86222393	1089	8111											
VDR	7421	broad.mit.edu	37	chr12	48238574	48238574	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagcacaaggggcgttagCttcatgctgcactcaggctg	13	11	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:48238574C>T	uc001rqm.2	-	11	1521	c.1239G>A	c.(1237-1239)AAG>AAA	p.K413K	VDR_uc001rql.2_Silent_p.K463K|VDR_uc001rqn.2_Silent_p.K413K|VDR_uc010slq.1_Silent_p.K381K	NM_001017535	NP_001017535	P11473	VDR_HUMAN	vitamin D (1,25-dihydroxyvitamin D3) receptor	413	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GGGGCGTTAGCTTCATGCTGC	0.602													T	48238574	C	T	48238574	2	4	8	1	0	0	0	0	0	0	0	1	17146	796	28	2		2	VDR	12	48238574	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	609072	48238574	85613321	1090	8112											
WNT10B	7480	broad.mit.edu	37	chr12	49361733	49361733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgtacacacatacctggCgccccaccctgttgttgtgg	10	13	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:49361733C>T	uc001rss.2	-	4	1053	c.707G>A	c.(706-708)CGC>CAC	p.R236H	WNT10B_uc001rst.2_Missense_Mutation_p.A189T	NM_003394	NP_003385	O00744	WN10B_HUMAN	wingless-type MMTV integration site family,	236					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			skin(4)|lung(3)	7						ACATACCTGGCGCCCCACCCT	0.512													T	49361733	C	T	49361733	3	4	8	1	0	0	0	0	1	0	0	0	17380	768	27	1	470	1	WNT10B	12	49361733	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1123159	49361733	84490162	1091	8113											
MLL2	8085	broad.mit.edu	37	chr12	49424718	49424718	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgctggccctgaccccGtcctccttccgcagcttctt	8	20	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:49424718G>A	uc001rta.3	-	40	13629	c.13629C>T	c.(13627-13629)GAC>GAT	p.D4543D		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4543					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CCCTGACCCCGTCCTCCTTCC	0.622			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49424718	G	A	49424718	2	1	8	1	0	0	0	0	0	0	0	1	9621	1136	40	1		1	MLL2	12	49424718	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	62985	49424718	84427177	1092	8114											
MLL2	8085	broad.mit.edu	37	chr12	49434552	49434552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctctacctgagatgccCgaggggtcaggggggctttg	19	9	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:49434552C>T	uc001rta.3	-	31	7001	c.7001G>A	c.(7000-7002)CGG>CAG	p.R2334Q		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2334	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CTGAGATGCCCGAGGGGTCAG	0.637			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			T	49434552	C	T	49434552	3	4	8	1	0	0	0	0	1	0	0	0	9621	652	23	1	9708	1	MLL2	12	49434552	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	9834	49434552	84417343	1093	8115											
MLL2	8085	broad.mit.edu	37	chr12	49445526	49445526	+	Frame_Shift_Del	DEL	G	G	-													ataggcgcgatacctcaggtGggggggacataggtgattct							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:49445525_49445525TG>T	uc001rta.4	-	9	1941	c.1941_1941CA>A	c.(1939-1941)ccafs	p.P647fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	647	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.P647fs*38(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ATACCTCAGGTGGGGGGGACA	0.632			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	49445526	G	-	49445526	7	5	8	1	0	1	0	1	0	0	0	0	9621	1348	47	0	14853	0	MLL2	12	49445526	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	10974	49445526	84406369	1094	8116											
DHH	50846	broad.mit.edu	37	chr12	49484980	49484980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgaagccggcttccactgCgaggcgcgccagcaacccat	12	16	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:49484980C>T	uc001rtf.2	-	2	803	c.496G>A	c.(496-498)GCA>ACA	p.A166T		NM_021044	NP_066382	O43323	DHH_HUMAN	desert hedgehog preproprotein	166					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			lung(1)|breast(1)	2						GCTTCCACTGCGAGGCGCGCC	0.602													T	49484980	C	T	49484980	3	4	8	1	0	0	0	0	1	0	0	0	4483	768	27	1	702	1	DHH	12	49484980	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	39454	49484980	84366915	1095	8117											
DNAJC22	79962	broad.mit.edu	37	chr12	49743155	49743155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattacagctcagaggcatcGccgctacaaagctttggtgg	11	11	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:49743155G>A	uc001rua.2	+	2	901	c.500G>A	c.(499-501)CGC>CAC	p.R167H	DNAJC22_uc001rub.2_Missense_Mutation_p.R167H	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	167					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)	1						CAGAGGCATCGCCGCTACAAA	0.567													A	49743155	G	A	49743155	3	1	8	1	0	0	0	0	1	0	0	0	4641	1087	38	1	502	1	DNAJC22	12	49743155	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	258175	49743155	84108740	1096	8118											
FAM186B	84070	broad.mit.edu	37	chr12	49993443	49993445	+	In_Frame_Del	DEL	CTT	CTT	-													tccatgtccatgtggtacacCttcttcttaatatttgcagg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:49993442_49993444CCTT>C	uc001ruo.3	-	3	2152_2154	c.1979_1981AAGG>G	c.(1978-1983)aaggtg>aGtg	p.660_661KV>S	FAM186B_uc010smk.2_In_Frame_Del_p.570_571KV>S	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	Homo sapiens family with sequence similarity 186, member B (FAM186B), transcript variant 1, mRNA.	660						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGTGGTACACCTTCTTCTTAAT	0.537													-	49993445	CTT	-	49993443	7	5	8	1	0	1	0	1	0	0	0	0	5512	680	24	0	717	0	FAM186B	12	49993443	In_Frame_Del	DEL	CTT	TCGA-BR-4201-01A-01D-1126-08	250288	49993443	83858452	1097	8119											
PRPF40B	25766	broad.mit.edu	37	chr12	50025229	50025229	+	Frame_Shift_Del	DEL	C	C	-													cctttcctccgatggggctaCcccccatgagtcagagacca					rs139675241		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:50025228_50025228AC>A	uc001rur.1	+	1	126	c.63_63AC>A	c.(61-63)ctafs	p.L21fs	PRPF40B_uc001rup.1_Frame_Shift_Del_p.L43fs|PRPF40B_uc001ruq.1_Frame_Shift_Del_p.L15fs|PRPF40B_uc001rus.1_5'Flank	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	21	Pro-rich.				RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CGATGGGGCTACCCCCCATGA	0.607													-	50025229	C	-	50025229	7	5	8	1	0	1	0	1	0	0	0	0	12572	507	18	0	70	0	PRPF40B	12	50025229	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	31786	50025229	83826666	1098	8120											
ACCN2	41	broad.mit.edu	37	chr12	50452564	50452564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaggatggaactgaaggcCgaggaggaggaggtgggtgg	21	4	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:50452564C>T	uc001rvw.2	+	2	244	c.15C>T	c.(13-15)GCC>GCT	p.A5A	ACCN2_uc001rvv.2_Silent_p.A5A|ACCN2_uc009zln.2_5'UTR|ACCN2_uc009zlo.2_Silent_p.A5A	NM_001095	NP_001086	P78348	ACCN2_HUMAN	amiloride-sensitive cation channel 2, neuronal	5	Cytoplasmic (By similarity).				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(1)	1					Amiloride(DB00594)	AACTGAAGGCCGAGGAGGAGG	0.617													T	50452564	C	T	50452564	2	4	8	1	0	0	0	0	0	0	0	1	129	639	23	1		1	ACCN2	12	50452564	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	427335	50452564	83399331	1099	8121											
SLC11A2	4891	broad.mit.edu	37	chr12	51393164	51393164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaatacaaaagtatctgCaatggtgatgagaacgccac	10	7	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:51393164C>T	uc001rxe.3	-	7	668	c.571G>A	c.(571-573)GCA>ACA	p.A191T	SLC11A2_uc001rxd.3_Missense_Mutation_p.A40T|SLC11A2_uc001rxc.3_Missense_Mutation_p.A191T|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc010smx.1_Missense_Mutation_p.A187T|SLC11A2_uc001rxh.1_Missense_Mutation_p.A191T|SLC11A2_uc001rxj.1_Missense_Mutation_p.A191T|SLC11A2_uc001rxi.2_Missense_Mutation_p.A191T|SLC11A2_uc001rxk.1_Missense_Mutation_p.A220T|SLC11A2_uc010smy.1_Missense_Mutation_p.A154T	NM_000617	NP_000608	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled	191	Helical; (Potential).				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			large_intestine(1)	1						AAAGTATCTGCAATGGTGATG	0.458													T	51393164	C	T	51393164	3	4	8	1	0	0	0	0	1	0	0	0	14381	710	25	2	1236	2	SLC11A2	12	51393164	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	940600	51393164	82458731	1100	8122											
SLC11A2	4891	broad.mit.edu	37	chr12	51393180	51393180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcaatggtgatgagaacGccaccccacagaggaattct	10	11	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:51393180G>A	uc001rxe.3	-	7	652	c.555C>T	c.(553-555)GGC>GGT	p.G185G	SLC11A2_uc001rxd.3_Silent_p.G34G|SLC11A2_uc001rxc.3_Silent_p.G185G|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc010smx.1_Silent_p.G181G|SLC11A2_uc001rxh.1_Silent_p.G185G|SLC11A2_uc001rxj.1_Silent_p.G185G|SLC11A2_uc001rxi.2_Silent_p.G185G|SLC11A2_uc001rxk.1_Silent_p.G214G|SLC11A2_uc010smy.1_Silent_p.G148G	NM_000617	NP_000608	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled	185	Helical; (Potential).				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			large_intestine(1)	1						TGATGAGAACGCCACCCCACA	0.458													A	51393180	G	A	51393180	2	1	8	1	0	0	0	0	0	0	0	1	14381	1074	38	1		1	SLC11A2	12	51393180	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	16	51393180	82458715	1101	8123											
KRT75	9119	broad.mit.edu	37	chr12	52826943	52826943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtataggaatcaaagagggGctctaggttctgcctcacag	13	8	4	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:52826943G>A	uc001saj.2	-	2	614	c.592C>T	c.(592-594)CCC>TCC	p.P198S		NM_004693	NP_004684	O95678	K2C75_HUMAN	keratin 75	198	Linker 1.|Rod.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.192)		TCAAAGAGGGGCTCTAGGTTC	0.582													A	52826943	G	A	52826943	3	1	8	1	0	0	0	0	1	0	0	0	8488	1203	42	2	1095	2	KRT75	12	52826943	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1433763	52826943	81024952	1102	8124											
KRT74	121391	broad.mit.edu	37	chr12	52962173	52962173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgtctccaggctggcacGctgaagggcaaagaacagag	15	11	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:52962173G>A	uc001sap.1	-	7	1183	c.1135C>T	c.(1135-1137)CGT>TGT	p.R379C		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	keratin 6 irs4	379	Rod.|Coil 2.					keratin filament	structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.191)		AGGCTGGCACGCTGAAGGGCA	0.552													A	52962173	G	A	52962173	3	1	8	1	0	0	0	0	1	0	0	0	8487	1101	38	1	466	1	KRT74	12	52962173	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	135230	52962173	80889722	1103	8125											
ESPL1	9700	broad.mit.edu	37	chr12	53680232	53680232	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactggagggcctgaaccagCcatcaaacgagagcctgcag	12	13	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:53680232C>A	uc001sck.2	+	18	3803	c.3712C>A	c.(3712-3714)CCA>ACA	p.P1238T	ESPL1_uc001scj.2_Missense_Mutation_p.P913T|ESPL1_uc010soe.1_Intron	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1238					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						CCTGAACCAGCCATCAAACGA	0.542													A	53680232	C	A	53680232	3	1	8	1	0	0	0	0	1	0	0	0	5253	739	26	5	3778	5	ESPL1	12	53680232	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	718059	53680232	80171663	1104	8126											
ESPL1	9700	broad.mit.edu	37	chr12	53681832	53681832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagaggagcctaagagacGgggcactgcttcccggggcc	17	12	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:53681832G>A	uc001sck.2	+	19	4344	c.4253G>A	c.(4252-4254)CGG>CAG	p.R1418Q	ESPL1_uc001scj.2_Missense_Mutation_p.R1093Q|ESPL1_uc010soe.1_3'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1418					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						CCTAAGAGACGGGGCACTGCT	0.617											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	53681832	G	A	53681832	3	1	8	1	0	0	0	0	1	0	0	0	5253	1116	39	1	4323	1	ESPL1	12	53681832	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1600	53681832	80170063	1105	8127											
ESPL1	9700	broad.mit.edu	37	chr12	53681905	53681905	+	Silent	SNP	A	A	T													acggatgccgtggttgccccAggtagtgcccctgggaaccc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:53681905A>T	uc001sck.2	+	19	4417	c.4326A>T	c.(4324-4326)CCA>CCT	p.P1442P	ESPL1_uc001scj.2_Silent_p.P1117P|ESPL1_uc010soe.1_3'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1442					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						TGGTTGCCCCAGGTAGTGCCC	0.667											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	53681905	A	T	53681905	2	4	8	1	0	0	0	0	0	0	0	1	5253	175	7	5		5	ESPL1	12	53681905	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	73	53681905	80169990	1106	8128	16	2									
ESPL1	9700	broad.mit.edu	37	chr12	53681913	53681913	+	Missense_Mutation	SNP	C	C	T													cgtggttgccccaggtagtgCccctgggaaccctggcctga							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:53681913C>T	uc001sck.2	+	19	4425	c.4334C>T	c.(4333-4335)GCC>GTC	p.A1445V	ESPL1_uc001scj.2_Missense_Mutation_p.A1120V|ESPL1_uc010soe.1_3'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1445					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						CCAGGTAGTGCCCCTGGGAAC	0.667											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	53681913	C	T	53681913	3	4	8	1	0	0	0	0	1	0	0	0	5253	739	26	2	4404	2	ESPL1	12	53681913	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	8	53681913	80169982	1107	8129	16	2									
AAAS	8086	broad.mit.edu	37	chr12	53701642	53701642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcaccacactgagcaggGcccctttgttgaaggaagga	11	12	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:53701642G>A	uc001scr.3	-	15	1566	c.1403C>T	c.(1402-1404)GCC>GTC	p.A468V	AAAS_uc001scs.3_Missense_Mutation_p.A435V	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency,	468					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				ovary(1)	1						ACTGAGCAGGGCCCCTTTGTT	0.602													A	53701642	G	A	53701642	3	1	8	1	0	0	0	0	1	0	0	0	8	1203	42	2	245	2	AAAS	12	53701642	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	19729	53701642	80150253	1108	8130											
SILV	6490	broad.mit.edu	37	chr12	56348059	56348059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggacaagagcagaagatgCggggtagacgcagccagtga	17	7	0	5			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:56348059C>T	uc001sip.2	-	11	1956	c.1925G>A	c.(1924-1926)CGC>CAC	p.R642H	SILV_uc001siq.2_Missense_Mutation_p.R649H|SILV_uc010spx.1_Missense_Mutation_p.R556H|SILV_uc001sir.2_Missense_Mutation_p.R642H	NM_006928	NP_008859	P40967	PMEL_HUMAN	silver homolog	642	Cytoplasmic (Potential).				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding				0						GCAGAAGATGCGGGGTAGACG	0.527													T	56348059	C	T	56348059	3	4	8	1	0	0	0	0	1	0	0	0	14322	768	27	1	64	1	SILV	12	56348059	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2646417	56348059	77503836	1109	8131											
MIP	4284	broad.mit.edu	37	chr12	56847512	56847512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatctccactgtggttgCctggcccacgctcaccgcag	11	15	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:56847512C>T	uc001slh.2	-	2	420	c.388G>A	c.(388-390)GCA>ACA	p.A130T		NM_012064	NP_036196	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	130	Helical; (By similarity).				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			skin(1)	1						ACTGTGGTTGCCTGGCCCACG	0.602													T	56847512	C	T	56847512	3	4	8	1	0	0	0	0	1	0	0	0	9591	739	26	2	415	2	MIP	12	56847512	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	499453	56847512	77004383	1110	8132											
NAB2	4665	broad.mit.edu	37	chr12	57486328	57486328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgtcccgccaagtagcccGagagagcacctacttgtcct	9	14	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:57486328G>A	uc001smz.2	+	3	1433	c.1055G>A	c.(1054-1056)CGA>CAA	p.R352Q		NM_005967	NP_005958	Q15742	NAB2_HUMAN	NGFI-A binding protein 2	352	NCD2.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			upper_aerodigestive_tract(1)|ovary(1)	2						CAAGTAGCCCGAGAGAGCACC	0.552													A	57486328	G	A	57486328	3	1	8	1	0	0	0	0	1	0	0	0	10132	1058	37	1	1065	1	NAB2	12	57486328	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	638816	57486328	76365567	1111	8133											
LRP1	4035	broad.mit.edu	37	chr12	57574224	57574224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtcatcgatgccatgcGgagccagctgggcaaggcca	16	11	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:57574224G>A	uc001snd.2	+	32	5814	c.5348G>A	c.(5347-5349)CGG>CAG	p.R1783Q		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1783	Extracellular (Potential).|LDL-receptor class B 16.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GATGCCATGCGGAGCCAGCTG	0.617													A	57574224	G	A	57574224	3	1	8	1	0	0	0	0	1	0	0	0	8951	1116	39	1	5474	1	LRP1	12	57574224	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	87896	57574224	76277671	1112	8134											
SHMT2	6472	broad.mit.edu	37	chr12	57627077	57627077	+	Frame_Shift_Del	DEL	G	G	-													gccgtgttcccatccctgcaGgggggcccccacaatcatgc					rs35603162		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:57627076_57627076AG>A	uc001snf.2	+	7	1177	c.971_971AG>A	c.(970-972)cagfs	p.Q324fs	SHMT2_uc001snh.2_Frame_Shift_Del_p.Q326fs|SHMT2_uc009zpk.2_Frame_Shift_Del_p.Q314fs|SHMT2_uc001sng.2_Frame_Shift_Del_p.Q220fs|SHMT2_uc001sni.2_Frame_Shift_Del_p.Q303fs|SHMT2_uc010srg.2_Frame_Shift_Del_p.Q333fs|SHMT2_uc010srh.2_Frame_Shift_Del_p.Q303fs|SHMT2_uc001snj.2_Frame_Shift_Del_p.Q228fs|SHMT2_uc010sri.2_Frame_Shift_Del_p.Q303fs|SHMT2_uc001snk.2_Frame_Shift_Del_p.Q228fs|SHMT2_uc010srj.2_5'UTR	NM_005412	NP_001159831	P34897	GLYM_HUMAN	Homo sapiens serine hydroxymethyltransferase 2 (mitochondrial) (SHMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	324						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CCATCCCTGCAGGGGGGCCCC	0.587													-	57627077	G	-	57627077	7	5	8	1	0	1	0	1	0	0	0	0	14286	991	35	0	1002	0	SHMT2	12	57627077	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	52853	57627077	76224818	1113	8135											
MBD6	114785	broad.mit.edu	37	chr12	57921401	57921401	+	Frame_Shift_Del	DEL	C	C	-													ccccctccaactcagggagaCccccccaactccttagccct							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:57921400_57921400AC>A	uc001soj.1	+	7	2417	c.2193_2193AC>A	c.(2191-2193)agafs	p.R731fs	MBD6_uc001sok.1_Frame_Shift_Del_p.R598fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	731	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACTCAGGGAGACCCCCCCAAC	0.602													-	57921401	C	-	57921401	7	5	8	1	0	1	0	1	0	0	0	0	9348	507	18	0	2216	0	MBD6	12	57921401	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	294324	57921401	75930494	1114	8136											
MBD6	114785	broad.mit.edu	37	chr12	57921419	57921419	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacccccccaactccttagcCctctgctgggtgccagcctg	9	19	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:57921419C>A	uc001soj.1	+	8	2436	c.2212C>A	c.(2212-2214)CCT>ACT	p.P738T	MBD6_uc001sok.1_Missense_Mutation_p.P605T|MBD6_uc001sol.1_RNA	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	738	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						ACTCCTTAGCCCTCTGCTGGG	0.582													A	57921419	C	A	57921419	3	1	8	1	0	0	0	0	1	0	0	0	9348	623	22	5	2234	5	MBD6	12	57921419	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	18	57921419	75930476	1115	8137											
SLC26A10	65012	broad.mit.edu	37	chr12	58015593	58015593	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtgagattccgagaccggCtacccacgccgatcccgggg	13	15	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:58015593C>A	uc001spe.2	+	4	987	c.676C>A	c.(676-678)CTA>ATA	p.L226I	SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_5'Flank	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	226						integral to membrane	antiporter activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(17;0.122)					CCGAGACCGGCTACCCACGCC	0.692											OREG0021948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	58015593	C	A	58015593	3	1	8	1	0	0	0	0	1	0	0	0	14515	796	28	5	690	5	SLC26A10	12	58015593	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	94174	58015593	75836302	1116	8138											
AGAP2	116986	broad.mit.edu	37	chr12	58121846	58121846	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctgacccgtgctggacacGatcaggaactcaaagttttc	10	11	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:58121846G>A	uc001spq.2	-	15	2640	c.2640C>T	c.(2638-2640)ATC>ATT	p.I880I	AGAP2_uc001spo.1_5'Flank|AGAP2_uc001spp.2_Silent_p.I879I|AGAP2_uc001spr.2_Silent_p.I524I|LOC100130776_uc001sps.3_3'UTR	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	880	PH.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5						TGCTGGACACGATCAGGAACT	0.577													A	58121846	G	A	58121846	2	1	8	1	0	0	0	0	0	0	0	1	368	1048	37	1		1	AGAP2	12	58121846	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	106253	58121846	75730049	1117	8139											
MON2	23041	broad.mit.edu	37	chr12	62979234	62979234	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtcccaagatgtactacaTcgctatatagaggatgaaag	10	7	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:62979234T>C	uc001sre.2	+	33	5251	c.4860T>C	c.(4858-4860)CAT>CAC	p.H1620H	MON2_uc009zqj.2_Silent_p.H1620H|MON2_uc010ssl.1_Silent_p.H1548H|MON2_uc010ssm.1_Silent_p.H1591H|MON2_uc010ssn.1_Silent_p.H1614H|MON2_uc001srf.2_Silent_p.H1383H|MON2_uc001srg.2_Silent_p.H489H	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	1621					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ATGTACTACATCGCTATATAG	0.348													C	62979234	T	C	62979234	2	2	8	1	0	0	0	0	0	0	0	1	9700	1432	50	3		3	MON2	12	62979234	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	4857388	62979234	70872661	1118	8140											
NUP107	57122	broad.mit.edu	37	chr12	69109410	69109410	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttttcttcttacaggacCctgatgctcccataagacag	6	11	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:69109410C>A	uc001suf.2	+	12	1088	c.973C>A	c.(973-975)CCT>ACT	p.P325T	NUP107_uc001sug.2_Missense_Mutation_p.P172T|NUP107_uc010stj.1_Missense_Mutation_p.P296T	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	325					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CTTACAGGACCCTGATGCTCC	0.353													A	69109410	C	A	69109410	3	1	8	1	0	0	0	0	1	0	0	0	10753	623	22	5	1019	5	NUP107	12	69109410	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	6130176	69109410	64742485	1119	8141											
CCT2	10576	broad.mit.edu	37	chr12	69980567	69980567	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccatcgccattggagactTggtaaagagcaccttgggac	12	10	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:69980567T>C	uc001svb.1	+	3	207	c.113T>C	c.(112-114)TTG>TCG	p.L38S	CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Missense_Mutation_p.L38S|CCT2_uc010stl.1_5'UTR	NM_006431	NP_006422	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2	38					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			ATTGGAGACTTGGTAAAGAGC	0.338													C	69980567	T	C	69980567	3	2	8	1	0	0	0	0	1	0	0	0	2953	1821	63	3	123	3	CCT2	12	69980567	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	871157	69980567	63871328	1120	8142											
TMEM19	55266	broad.mit.edu	37	chr12	72094768	72094768	+	Frame_Shift_Del	DEL	G	G	-													tgcttggggtttttggcccaGggggtgaactttatttcatt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:72094767_72094767AG>A	uc001sws.3	+	5	1586	c.1003_1003AG>A	c.(1003-1005)aggfs	p.R335fs		NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	335						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		TTTTTGGCCCAGGGGGTGAAC	0.418													-	72094768	G	-	72094768	7	5	8	1	0	1	0	1	0	0	0	0	16110	1000	35	0	1026	0	TMEM19	12	72094768	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	2114201	72094768	61757127	1121	8143											
TBC1D15	64786	broad.mit.edu	37	chr12	72307610	72307610	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttttctttttaggataTgttcaaggaatgagtgattt	8	3	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:72307610T>C	uc001swu.2	+	13	1431	c.1422T>C	c.(1420-1422)TAT>TAC	p.Y474Y	TBC1D15_uc010stt.1_Silent_p.Y443Y|TBC1D15_uc001swv.2_Silent_p.Y457Y|TBC1D15_uc001sww.2_Silent_p.Y206Y	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15 isoform 1	452	Rab-GAP TBC.						protein binding|Rab GTPase activator activity				0						TTTTAGGATATGTTCAAGGAA	0.353													C	72307610	T	C	72307610	2	2	8	1	0	0	0	0	0	0	0	1	15601	1471	51	3		3	TBC1D15	12	72307610	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	212842	72307610	61544285	1122	8144											
GLIPR1L2	144321	broad.mit.edu	37	chr12	75804255	75804255	+	Frame_Shift_Del	DEL	A	A	-													cggactgctagagcatggggAaaaaaatgtttgtttacgca					rs144818804	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:75804254_75804254GA>G	uc001sxr.1	+	1	283	c.275_275GA>G	c.(274-276)ggafs	p.G92fs	GLIPR1L2_uc001sxp.1_Frame_Shift_Del_p.G92fs|GLIPR1L2_uc001sxq.1_5'UTR	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	Homo sapiens GLI pathogenesis-related 1 like 2 (GLIPR1L2), mRNA.	92						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						AGAGCATGGGGAAAAAAATGT	0.318													-	75804255	A	-	75804255	7	5	8	1	0	1	0	1	0	0	0	0	6443	233	9	0	282	0	GLIPR1L2	12	75804255	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	3496645	75804255	58047640	1123	8145											
E2F7	144455	broad.mit.edu	37	chr12	77444494	77444494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcctttgcttttcaaattCgtccacagcactgtccccaa	6	14	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:77444494C>T	uc001sym.3	-	4	636	c.400G>A	c.(400-402)GAA>AAA	p.E134K	E2F7_uc001syn.2_Missense_Mutation_p.E134K	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	134					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						TTTTCAAATTCGTCCACAGCA	0.458													T	77444494	C	T	77444494	3	4	8	1	0	0	0	0	1	0	0	0	4872	893	31	1	2375	1	E2F7	12	77444494	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1640239	77444494	56407401	1124	8146											
PPP1R12A	4659	broad.mit.edu	37	chr12	80328667	80328667	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctcggagccgatccagcgTttcagctgctcgttccgctt	11	14	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:80328667T>C	uc001syz.2	-	1	312	c.45A>G	c.(43-45)AAA>AAG	p.K15K	PPP1R12A_uc001sza.2_Silent_p.K15K|PPP1R12A_uc010sud.1_Silent_p.K15K|PPP1R12A_uc001szb.2_Silent_p.K15K|PPP1R12A_uc001szc.2_Silent_p.K15K	NM_002480	NP_002471	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	15						contractile fiber	protein binding|signal transducer activity			ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						CGATCCAGCGTTTCAGCTGCT	0.547													C	80328667	T	C	80328667	2	2	8	1	0	0	0	0	0	0	0	1	12354	1722	60	3		3	PPP1R12A	12	80328667	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	2884173	80328667	53523228	1125	8147											
DUSP6	1848	broad.mit.edu	37	chr12	89744647	89744647	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgcactattggggtctcGgtcaaggtcagactcgatgt	13	8	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:89744647G>A	uc001tay.2	-	2	1036	c.556C>T	c.(556-558)CGA>TGA	p.R186*	DUSP6_uc001taz.2_Intron	NM_001946	NP_001937	Q16828	DUS6_HUMAN	dual specificity phosphatase 6 isoform a	186					dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0						TTGGGGTCTCGGTCAAGGTCA	0.617													A	89744647	G	A	89744647	4	1	8	1	0	0	0	0	0	1	0	0	4829	1124	39	1	597	1	DUSP6	12	89744647	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	9415980	89744647	44107248	1126	8148											
DCN	1634	broad.mit.edu	37	chr12	91552114	91552114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccattgaaagtaacttttCgcactttggtgatctcattc	7	9	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:91552114C>T	uc001tbs.2	-	3	591	c.497G>A	c.(496-498)CGA>CAA	p.R166Q	DCN_uc001tbo.2_Intron|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Missense_Mutation_p.R166Q|DCN_uc001tbu.2_Missense_Mutation_p.R166Q	NM_133503	NP_598010	P07585	PGS2_HUMAN	decorin isoform a preproprotein	166	LRR 5.				organ morphogenesis	extracellular space				central_nervous_system(2)|ovary(1)|lung(1)	4						AGTAACTTTTCGCACTTTGGT	0.378													T	91552114	C	T	91552114	3	4	8	1	0	0	0	0	1	0	0	0	4297	884	31	1	602	1	DCN	12	91552114	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1807467	91552114	42299781	1127	8149											
C12orf63	374467	broad.mit.edu	37	chr12	97079013	97079013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcatatcagcaaagatagCacagtgagtgtgaggatgga	13	5	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:97079013C>T	uc001tet.1	+	9	1364	c.1286C>T	c.(1285-1287)GCA>GTA	p.A429V		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	429										skin(6)|ovary(1)	7						GCAAAGATAGCACAGTGAGTG	0.507													T	97079013	C	T	97079013	3	4	8	1	0	0	0	0	1	0	0	0	1706	710	25	2	1316	2	C12orf63	12	97079013	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	5526899	97079013	36772882	1128	8150											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100452815	100452815	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgatgtatttagagatAcctgattacaagtctgcggc	10	6	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:100452815A>G	uc001tgq.2	-	14	2469	c.2240T>C	c.(2239-2241)GTA>GCA	p.V747A	UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.V397A	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	747										ovary(2)	2						ATTTAGAGATACCTGATTACA	0.418													G	100452815	A	G	100452815	3	3	8	1	0	0	0	0	1	0	0	0	16966	391	14	3	2186	3	UHRF1BP1L	12	100452815	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	3373802	100452815	33399080	1129	8151											
SLC17A8	246213	broad.mit.edu	37	chr12	100790165	100790165	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgggcaccacctttggagAgaagccgactggccacaacc	12	13	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:100790165A>C	uc010svi.1	+	5	959	c.646A>C	c.(646-648)AGA>CGA	p.R216R	SLC17A8_uc009ztx.2_Silent_p.R216R	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	216	Cytoplasmic (Potential).				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3						ACCTTTGGAGAGAAGCCGACT	0.398													C	100790165	A	C	100790165	2	2	8	1	0	0	0	0	0	0	0	1	14423	296	11	5		5	SLC17A8	12	100790165	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	337350	100790165	33061730	1130	8152											
C12orf45	121053	broad.mit.edu	37	chr12	105388460	105388460	+	Frame_Shift_Del	DEL	A	A	-													ttttggacagtccagcaagtAaaaaaaagaaatagtcaaat							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:105388459_105388459TA>T	uc001tlb.3	+	3	576	c.543_543TA>T	c.(541-543)agtfs	p.S181fs		NM_152318	NP_689531	Q8N5I9	CL045_HUMAN	Homo sapiens chromosome 12 open reading frame 45 (C12orf45), mRNA.	181										large_intestine(1)|lung(2)	3						GTCCAGCAAGTAAAAAAAAGA	0.353													-	105388460	A	-	105388460	7	5	8	1	0	1	0	1	0	0	0	0	1691	363	13	0	558	0	C12orf45	12	105388460	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	4598295	105388460	28463435	1131	8153											
TCP11L2	255394	broad.mit.edu	37	chr12	106715425	106715425	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggaaagctgtgtgctccCgtgcgagataatgatatcag	13	7	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:106715425C>T	uc001tln.2	+	5	750	c.576C>T	c.(574-576)CCC>CCT	p.P192P	TCP11L2_uc001tll.2_Silent_p.P192P|TCP11L2_uc001tlm.2_Silent_p.P192P	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	192										ovary(3)	3						TGTGTGCTCCCGTGCGAGATA	0.488													T	106715425	C	T	106715425	2	4	8	1	0	0	0	0	0	0	0	1	15712	639	23	1		1	TCP11L2	12	106715425	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1326965	106715425	27136470	1132	8154											
BTBD11	121551	broad.mit.edu	37	chr12	108011205	108011205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagccaggctgcagcccaCggacacaggtaggctaggat	13	12	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:108011205C>T	uc001tmk.1	+	9	2744	c.2223C>T	c.(2221-2223)CAC>CAT	p.H741H	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Silent_p.H741H|BTBD11_uc001tml.1_Silent_p.H278H	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	741	ANK 4.					integral to membrane	DNA binding			skin(2)|ovary(1)	3						CTGCAGCCCACGGACACAGGT	0.408													T	108011205	C	T	108011205	2	4	8	1	0	0	0	0	0	0	0	1	1539	535	19	1		1	BTBD11	12	108011205	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1295780	108011205	25840690	1133	8155											
WSCD2	9671	broad.mit.edu	37	chr12	108603945	108603945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgccgagtgctactgcgGccacaagatccaggcgacga	14	14	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:108603945G>A	uc001tms.2	+	4	1289	c.545G>A	c.(544-546)GGC>GAC	p.G182D	WSCD2_uc001tmt.2_Missense_Mutation_p.G182D	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	182	WSC 1.					integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						TGCTACTGCGGCCACAAGATC	0.672													A	108603945	G	A	108603945	3	1	8	1	0	0	0	0	1	0	0	0	17404	1203	42	2	555	2	WSCD2	12	108603945	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	592740	108603945	25247950	1134	8156											
WSCD2	9671	broad.mit.edu	37	chr12	108634217	108634217	+	Frame_Shift_Del	DEL	C	C	-													gatcgaggccttcgacgccgCcatcctgctcatccgcaacc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:108634216_108634216GC>G	uc001tms.3	+	7	1984	c.1240_1240GC>G	c.(1240-1242)gccfs	p.A414fs	WSCD2_uc001tmt.3_Frame_Shift_Del_p.A414fs|WSCD2_uc001tmu.3_Frame_Shift_Del_p.A162fs	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	414						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTTCGACGCCGCCATCCTGCT	0.607													-	108634217	C	-	108634217	7	5	8	1	0	1	0	1	0	0	0	0	17404	739	26	0	1267	0	WSCD2	12	108634217	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	30272	108634217	25217678	1135	8157											
SART3	9733	broad.mit.edu	37	chr12	108942899	108942899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatttcactcatcttctggCgggccatcctcaccttggta	8	13	5	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:108942899C>T	uc001tmz.1	-	2	639	c.404G>A	c.(403-405)CGC>CAC	p.R135H	SART3_uc009zux.1_5'UTR|SART3_uc010swx.1_Missense_Mutation_p.R135H|SART3_uc010swy.1_Missense_Mutation_p.R3H|SART3_uc010swz.1_Missense_Mutation_p.R135H|SART3_uc001tna.1_RNA	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	135	HAT 1.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						CATCTTCTGGCGGGCCATCCT	0.458									Porokeratosis				T	108942899	C	T	108942899	3	4	8	1	0	0	0	0	1	0	0	0	13847	768	27	1	2559	1	SART3	12	108942899	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	308682	108942899	24908996	1136	8158											
SART3	9733	broad.mit.edu	37	chr12	108954646	108954646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagtctctcaatctccagCtggtttttctcctcctcttc	4	16	5	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:108954646C>T	uc001tmz.1	-	1	520	c.285G>A	c.(283-285)CAG>CAA	p.Q95Q	SART3_uc009zux.1_5'UTR|SART3_uc010swx.1_Silent_p.Q95Q|SART3_uc010swz.1_Silent_p.Q95Q|SART3_uc001tna.1_RNA|SART3_uc001tnb.2_Silent_p.Q95Q|ISCU_uc010sxa.1_5'Flank|ISCU_uc010sxb.1_5'Flank|ISCU_uc001tnc.3_5'Flank|ISCU_uc010sxc.1_5'Flank|ISCU_uc009zuy.2_5'Flank|ISCU_uc010sxd.1_5'Flank	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	95	Potential.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						CAATCTCCAGCTGGTTTTTCT	0.632									Porokeratosis				T	108954646	C	T	108954646	2	4	8	1	0	0	0	0	0	0	0	1	13847	796	28	2		2	SART3	12	108954646	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	11747	108954646	24897249	1137	8159											
TCHP	84260	broad.mit.edu	37	chr12	110344435	110344435	+	Frame_Shift_Del	DEL	A	A	-													ttgggaaatgcagaaagaagAaaaaaaacaggtgtggtatg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:110344434_110344434GA>G	uc001tpn.3	+	4	667	c.514_514GA>G	c.(514-516)gaafs	p.E172fs	TCHP_uc001tpo.1_Non-coding_Transcript|TCHP_uc001tpp.3_Frame_Shift_Del_p.E172fs	NM_001143852	NP_115676	Q9BT92	TCHP_HUMAN	Homo sapiens trichoplein, keratin filament binding (TCHP), transcript variant 2, mRNA.	172	Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GCAGAAAGAAGAAAAAAAACA	0.478													-	110344435	A	-	110344435	7	5	8	1	0	1	0	1	0	0	0	0	15699	246	9	0	529	0	TCHP	12	110344435	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	1389789	110344435	23507460	1138	8160											
GPN3	51184	broad.mit.edu	37	chr12	110897617	110897617	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccgttgggaccgaatcGcagagaatcatcctccatta	8	13	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:110897617G>A	uc001tqr.2	-	3	264	c.208C>T	c.(208-210)CGA>TGA	p.R70*	GPN3_uc001tqs.2_Nonsense_Mutation_p.R80*	NM_016301	NP_057385	Q9UHW5	GPN3_HUMAN	GPN-loop GTPase 3 isoform 1	70						protein complex	GTP binding				0						GGACCGAATCGCAGAGAATCA	0.448													A	110897617	G	A	110897617	4	1	8	1	0	0	0	0	0	1	0	0	6619	1095	38	1	670	1	GPN3	12	110897617	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	553182	110897617	22954278	1139	8161											
TCTN1	79600	broad.mit.edu	37	chr12	111085688	111085688	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctttaacttcttcttcccGtttgtttgacgtaagtgagg	8	10	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:111085688G>A	uc009zvs.2	+	14	1863	c.1755G>A	c.(1753-1755)CCG>CCA	p.P585P	TCTN1_uc001trp.3_Silent_p.P571P|TCTN1_uc001trn.3_Silent_p.P590P|TCTN1_uc001trk.3_RNA|HVCN1_uc001trq.1_Intron	NM_001082537	NP_001076006	Q2MV58	TECT1_HUMAN	tectonic family member 1 isoform 2	585					multicellular organismal development	extracellular region					0						TCTTCTTCCCGTTTGTTTGAC	0.532													A	111085688	G	A	111085688	2	1	8	1	0	0	0	0	0	0	0	1	15719	1132	40	1		1	TCTN1	12	111085688	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	188071	111085688	22766207	1140	8162											
ACAD10	80724	broad.mit.edu	37	chr12	112171759	112171759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtttcatccagaagagcCagaggtgcttgctgtccttg	13	9	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:112171759C>T	uc001tsq.2	+	11	1627	c.1427C>T	c.(1426-1428)CCA>CTA	p.P476L	ACAD10_uc001tsp.2_Missense_Mutation_p.P476L|ACAD10_uc009zvx.2_Missense_Mutation_p.P507L|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	476							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						CCAGAAGAGCCAGAGGTGCTT	0.537													T	112171759	C	T	112171759	3	4	8	1	0	0	0	0	1	0	0	0	108	594	21	4	1562	4	ACAD10	12	112171759	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1086071	112171759	21680136	1141	8163											
ACAD10	80724	broad.mit.edu	37	chr12	112184008	112184008	+	Frame_Shift_Del	DEL	A	A	-													ccttagaggctgatcccgagAaaaaatacggagcaggactg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:112184007_112184007GA>G	uc009zvx.3	+	14	2468	c.2268_2268GA>G	c.(2266-2268)gagfs	p.E756fs	ACAD10_uc001tsp.3_Frame_Shift_Del_p.E725fs|ACAD10_uc001tsq.3_Frame_Shift_Del_p.E725fs|ACAD10_uc001tss.1_Non-coding_Transcript	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	725							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CTGATCCCGAGAAAAAATACG	0.468													-	112184008	A	-	112184008	7	5	8	1	0	1	0	1	0	0	0	0	108	247	9	0	2323	0	ACAD10	12	112184008	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	12249	112184008	21667887	1142	8164											
FBXO21	23014	broad.mit.edu	37	chr12	117624320	117624320	+	Frame_Shift_Del	DEL	A	A	-													atacacaccagttcatcctcAaaaaaaatctctggtccttc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:117624319_117624319CA>C	uc001twk.3	-	2	472	c.433_433TG>G	c.(433-435)gagfs	p.E145fs	FBXO21_uc001twj.3_Frame_Shift_Del_p.E145fs|FBXO21_uc009zwq.3_Frame_Shift_Del_p.E145fs	NM_033624	NP_296373	O94952	FBX21_HUMAN	Homo sapiens F-box protein 21 (FBXO21), transcript variant 1, mRNA.	145					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.F144fs*9(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		AGTTCATCCTCAAAAAAAATC	0.368													-	117624320	A	-	117624320	7	5	8	1	0	1	0	1	0	0	0	0	5733	127	5	0	1494	0	FBXO21	12	117624320	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	5440312	117624320	16227575	1143	8165											
NOS1	4842	broad.mit.edu	37	chr12	117723955	117723955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacacagcgcgaggcattcCgccaggcgtgcttggcccca	12	17	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:117723955C>T	uc001twm.1	-	6	1930	c.1244G>A	c.(1243-1245)CGG>CAG	p.R415Q		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	415					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CGAGGCATTCCGCCAGGCGTG	0.547													T	117723955	C	T	117723955	3	4	8	1	0	0	0	0	1	0	0	0	10541	652	23	1	3156	1	NOS1	12	117723955	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	99635	117723955	16127940	1144	8166											
GCN1L1	10985	broad.mit.edu	37	chr12	120589033	120589033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcttcagcgagaggatgcCcaggcccttcaccaggcccg	12	15	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:120589033C>T	uc001txo.2	-	34	4238	c.4225G>A	c.(4225-4227)GGC>AGC	p.G1409S		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1409					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGAGGATGCCCAGGCCCTTC	0.597													T	120589033	C	T	120589033	3	4	8	1	0	0	0	0	1	0	0	0	6299	623	22	4	3890	4	GCN1L1	12	120589033	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2865078	120589033	13262862	1145	8167											
SIRT4	23409	broad.mit.edu	37	chr12	120750802	120750802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctgaaactgaattctcGttgtggagagttgctgcctt	12	7	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:120750802G>A	uc001tyc.2	+	4	928	c.908G>A	c.(907-909)CGT>CAT	p.R303H		NM_012240	NP_036372	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	303	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGAATTCTCGTTGTGGAGAG	0.488													A	120750802	G	A	120750802	3	1	8	1	0	0	0	0	1	0	0	0	14340	1145	40	1	918	1	SIRT4	12	120750802	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	161769	120750802	13101093	1146	8168											
C12orf43	64897	broad.mit.edu	37	chr12	121448638	121448638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctttgtttacctgtccaGcagggctcccagcttcttgg	9	14	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:121448638G>A	uc001tzh.1	-	3	303	c.280C>T	c.(280-282)CTG>TTG	p.L94L	C12orf43_uc009zxa.1_Silent_p.L125L|C12orf43_uc010szo.1_Silent_p.L52L|C12orf43_uc010szp.1_Silent_p.L94L|C12orf43_uc001tzi.1_Silent_p.L94L	NM_022895	NP_075046	Q96C57	CL043_HUMAN	hypothetical protein LOC64897	94											0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TACCTGTCCAGCAGGGCTCCC	0.403													A	121448638	G	A	121448638	2	1	8	1	0	0	0	0	0	0	0	1	1689	962	34	2		2	C12orf43	12	121448638	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	697836	121448638	12403257	1147	8169											
LRRC43	254050	broad.mit.edu	37	chr12	122677528	122677528	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagttgaggctgcgtatagaTccccggctctgcccgtcccc	11	15	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:122677528T>A	uc009zxm.2	+	7	1351	c.1326T>A	c.(1324-1326)GAT>GAA	p.D442E	LRRC43_uc001ubw.3_Missense_Mutation_p.D257E|LRRC43_uc009zxn.2_Missense_Mutation_p.D203E	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	442											0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGCGTATAGATCCCCGGCTCT	0.597													A	122677528	T	A	122677528	3	1	8	1	0	0	0	0	1	0	0	0	9001	1432	50	5	1352	5	LRRC43	12	122677528	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	1228890	122677528	11174367	1148	8170											
KNTC1	9735	broad.mit.edu	37	chr12	123060124	123060124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgctcaagatcatgtatgCggcagtggttccttggagtg	14	8	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:123060124C>T	uc001ucv.2	+	28	2580	c.2417C>T	c.(2416-2418)GCG>GTG	p.A806V	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	806					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATCATGTATGCGGCAGTGGTT	0.478													T	123060124	C	T	123060124	3	4	8	1	0	0	0	0	1	0	0	0	8428	768	27	1	2523	1	KNTC1	12	123060124	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	382596	123060124	10791771	1149	8171											
CCDC62	84660	broad.mit.edu	37	chr12	123307941	123307941	+	Frame_Shift_Del	DEL	A	A	-													ggtcccagaagagtcagctcAaaaaaatacctttgtcagtt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:123307940_123307940CA>C	uc001udc.3	+	11	2191	c.2029_2029CA>C	c.(2029-2031)caafs	p.Q677fs	CCDC62_uc010tah.2_Intron|CCDC62_uc001ude.3_Frame_Shift_Del_p.Q438fs|CCDC62_uc021rfn.1_Intron	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	677						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AGAGTCAGCTCAAAAAAATAC	0.353													-	123307941	A	-	123307941	7	5	8	1	0	1	0	1	0	0	0	0	2833	130	5	0	2076	0	CCDC62	12	123307941	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	247817	123307941	10543954	1150	8172											
DNAH10	196385	broad.mit.edu	37	chr12	124257468	124257468	+	Frame_Shift_Del	DEL	T	T	-													tcctggaccaaaacgtggtgTttttcctcagaaataccaaa							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:124257467_124257467GT>G	uc001uft.4	+	3	325	c.300_300GT>G	c.(298-300)gtgfs	p.V100fs		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	100	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAAACGTGGTGTTTTTCCTCA	0.478													-	124257468	T	-	124257468	7	5	8	1	0	1	0	1	0	0	0	0	4598	1725	60	0	315	0	DNAH10	12	124257468	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	949527	124257468	9594427	1151	8173											
AACS	65985	broad.mit.edu	37	chr12	125613986	125613986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcaacaagtacaggaaggCgtatttctccaaattcccag	9	11	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:125613986C>T	uc001uhc.2	+	14	1735	c.1529C>T	c.(1528-1530)GCG>GTG	p.A510V	AACS_uc001uhd.2_Missense_Mutation_p.A510V|AACS_uc009zyh.2_Intron|AACS_uc009zyi.2_Missense_Mutation_p.A108V	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	510					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TACAGGAAGGCGTATTTCTCC	0.567													T	125613986	C	T	125613986	3	4	8	1	0	0	0	0	1	0	0	0	9	768	27	1	1583	1	AACS	12	125613986	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1356518	125613986	8237909	1152	8174											
TMEM132B	114795	broad.mit.edu	37	chr12	126004054	126004054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatagcagtgacctggctggGgcccagcagattacctggca	13	11	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:126004054G>A	uc001uhe.1	+	4	1169	c.1161G>A	c.(1159-1161)GGG>GGA	p.G387G		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	387	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACCTGGCTGGGGCCCAGCAGA	0.493													A	126004054	G	A	126004054	2	1	8	1	0	0	0	0	0	0	0	1	16043	1219	43	4		4	TMEM132B	12	126004054	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	390068	126004054	7847841	1153	8175											
TMEM132D	121256	broad.mit.edu	37	chr12	130184915	130184915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccggctcaggtagactttGtcccgcaggatgtgggcttt	15	10	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:130184915G>A	uc009zyl.1	-	2	736	c.408C>T	c.(406-408)GAC>GAT	p.D136D		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	136	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGTAGACTTTGTCCCGCAGGA	0.542													A	130184915	G	A	130184915	2	1	8	1	0	0	0	0	0	0	0	1	16044	1368	48	4		4	TMEM132D	12	130184915	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4180861	130184915	3666980	1154	8176											
SFRS8	6433	broad.mit.edu	37	chr12	132238992	132238992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagctggccgagtatgtcGccaggaacggcctgaagttc	13	11	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:132238992G>A	uc001uja.1	+	9	1542	c.1402G>A	c.(1402-1404)GCC>ACC	p.A468T	SFRS8_uc010tbn.1_Missense_Mutation_p.A468T|SFRS8_uc001ujb.1_Missense_Mutation_p.A261T|SFRS8_uc001uiz.1_Missense_Mutation_p.A342T	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	468	SURP motif 2.				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		CGAGTATGTCGCCAGGAACGG	0.547													A	132238992	G	A	132238992	3	1	8	1	0	0	0	0	1	0	0	0	14183	1087	38	1	1436	1	SFRS8	12	132238992	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2054077	132238992	1612903	1155	8177											
SFRS8	6433	broad.mit.edu	37	chr12	132281835	132281835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccccggcccgcggcccccGcggcccactcggcgcactca	12	24	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:132281835G>A	uc001uja.1	+	16	2787	c.2647G>A	c.(2647-2649)GCG>ACG	p.A883T	SFRS8_uc010tbn.1_Missense_Mutation_p.A935T	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	883	Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		cgcggcccccgcggcccACTC	0.557													A	132281835	G	A	132281835	3	1	8	1	0	0	0	0	1	0	0	0	14183	1087	38	1	2709	1	SFRS8	12	132281835	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	42843	132281835	1570060	1156	8178											
EP400	57634	broad.mit.edu	37	chr12	132514298	132514298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccccgtccctacgggtgCcgcggccgccacccctgtac	10	22	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:132514298C>T	uc001ujn.2	+	27	5469	c.5434C>T	c.(5434-5436)CCG>TCG	p.P1812S	EP400_uc001ujl.2_Missense_Mutation_p.P1811S|EP400_uc001ujm.2_Missense_Mutation_p.P1731S|SNORA49_uc001ujo.2_5'Flank	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1848					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCTACGGGTGCCGCGGCCGCC	0.637													T	132514298	C	T	132514298	3	4	8	1	0	0	0	0	1	0	0	0	5149	739	26	2	5537	2	EP400	12	132514298	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	232463	132514298	1337597	1157	8179											
TUBA3C	7278	broad.mit.edu	37	chr13	19752522	19752522	+	Frame_Shift_Del	DEL	G	G	-													agagctgcctataggttcctGtgcgcacttcatctacaaaa							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:19752521_19752521TG>T	uc009zzj.3	-	2	345	c.240_240CA>A	c.(238-240)acafs	p.T80fs		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	80					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TATAGGTTCCTGTGCGCACTT	0.488													-	19752522	G	-	19752522	7	5	8	1	0	1	0	1	0	0	0	0	16743	1377	48	0	1125	0	TUBA3C	13	19752522	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08		19752522	95417356	1158	8180											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20220969	20220970	+	Frame_Shift_Ins	INS	-	-	A													ccaaagaaaatagaaaaacaINSaaaaaagaaaaatttgtcga							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:20220968_20220969C>CA	uc001umh.3	+	2	856_857	c.755_756C>CA	c.(754-756)acafs	p.T252fs	MPHOSPH8_uc001umg.3_Frame_Shift_Ins_p.T252fs|MPHOSPH8_uc001umi.3_5'UTR	NM_017520	NP_059990	Q99549	MPP8_HUMAN	Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA.	252	Lys-rich.				cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		aatagaaaaacaaaaaaagaaa	0.332													A	20220970	-	A	20220969	7	5	8	1	0	1	1	0	0	0	0	0	9727	117	5	0	766	0	MPHOSPH8	13	20220969	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	468447	20220969	94948909	1159	8181											
ZMYM5	9205	broad.mit.edu	37	chr13	20399055	20399055	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattcaaaattcggggccaCgtacctggatctgcggaaag	11	9	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:20399055C>T	uc010tcn.1	-	8	1837	c.1572G>A	c.(1570-1572)ACG>ACA	p.T524T	ZMYM5_uc001umm.1_Silent_p.T348T	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	524						nucleus	zinc ion binding				0		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ttcggggccacgtacctggat	0													T	20399055	C	T	20399055	2	4	8	1	0	0	0	0	0	0	0	1	17700	523	19	1		1	ZMYM5	13	20399055	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	178086	20399055	94770823	1160	8182											
ZMYM5	9205	broad.mit.edu	37	chr13	20426142	20426142	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtatagattcaataaacacaAcatcatcatcatcatcatca	2	10	7	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:20426142A>T	uc010tcn.1	-	3	444	c.179T>A	c.(178-180)GTT>GAT	p.V60D	ZMYM5_uc001umm.1_Translation_Start_Site|ZMYM5_uc001umn.2_Missense_Mutation_p.V60D|ZMYM5_uc001umo.2_Missense_Mutation_p.V60D	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	60						nucleus	zinc ion binding				0		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		AATAAACACAAcatcatcatc	0.338													T	20426142	A	T	20426142	3	4	8	1	0	0	0	0	1	0	0	0	17700	43	2	5	1965	5	ZMYM5	13	20426142	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	27087	20426142	94743736	1161	8183											
ZMYM2	7750	broad.mit.edu	37	chr13	20577064	20577064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggactctttatcaccagtgGcctcacttcctaaacagatt	6	12	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:20577064G>A	uc001umr.2	+	5	1220	c.922G>A	c.(922-924)GCC>ACC	p.A308T	ZMYM2_uc001umq.2_Missense_Mutation_p.A221T|ZMYM2_uc001ums.2_Missense_Mutation_p.A308T|ZMYM2_uc001umt.2_Missense_Mutation_p.A308T|ZMYM2_uc009zzn.1_Missense_Mutation_p.A243T	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		ATCACCAGTGGCCTCACTTCC	0.433													A	20577064	G	A	20577064	3	1	8	1	0	0	0	0	1	0	0	0	17697	1203	42	2	928	2	ZMYM2	13	20577064	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	150922	20577064	94592814	1162	8184											
ZMYM2	7750	broad.mit.edu	37	chr13	20625630	20625630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaagagcgagttcagtggCgtggggaaatgaaacatttc	13	5	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:20625630C>T	uc001umr.2	+	14	2648	c.2350C>T	c.(2350-2352)CGT>TGT	p.R784C	ZMYM2_uc001ums.2_Missense_Mutation_p.R784C|ZMYM2_uc001umt.2_Missense_Mutation_p.R784C|ZMYM2_uc010tco.1_RNA|ZMYM2_uc001umv.2_Missense_Mutation_p.R164C|ZMYM2_uc001umw.2_Missense_Mutation_p.R237C	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	784					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AGTTCAGTGGCGTGGGGAAAT	0.378													T	20625630	C	T	20625630	3	4	8	1	0	0	0	0	1	0	0	0	17697	768	27	1	2392	1	ZMYM2	13	20625630	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	48566	20625630	94544248	1163	8185											
ZMYM2	7750	broad.mit.edu	37	chr13	20641139	20641139	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgatgaagatcttctggTattagatgagttaaaatctt	8	4	3	5			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:20641139T>C	uc001umr.2	+	21	3579	c.3281T>C	c.(3280-3282)GTA>GCA	p.V1094A	ZMYM2_uc001ums.2_Missense_Mutation_p.V1094A|ZMYM2_uc001umt.2_Missense_Mutation_p.V1094A|ZMYM2_uc001umv.2_Missense_Mutation_p.V474A|ZMYM2_uc001umw.2_Missense_Mutation_p.V547A	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	1094					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GATCTTCTGGTATTAGATGAG	0.308													C	20641139	T	C	20641139	3	2	8	1	0	0	0	0	1	0	0	0	17697	1638	57	3	3351	3	ZMYM2	13	20641139	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	15509	20641139	94528739	1164	8186											
SACS	26278	broad.mit.edu	37	chr13	23909127	23909127	+	Frame_Shift_Del	DEL	A	A	-													gatcaagacggttaactgggAaaaacgataaaaacttcttt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:23909126_23909126GA>G	uc001uon.2	-	9	9478	c.8889_8889TC>C	c.(8887-8889)ttcfs	p.F2963fs	SACS_uc001uoo.2_Frame_Shift_Del_p.F2816fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2963					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGTTAACTGGGAAAAACGATA	0.368													-	23909127	A	-	23909127	7	5	8	1	0	1	0	1	0	0	0	0	13804	246	9	0	4855	0	SACS	13	23909127	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	3267988	23909127	91260751	1165	8187											
SPATA13	221178	broad.mit.edu	37	chr13	24858406	24858406	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggagcagctggccatcaaTgaggtactggaattccacac	13	10	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:24858406T>C	uc001upg.1	+	4	830	c.423T>C	c.(421-423)AAT>AAC	p.N141N	SPATA13_uc001upd.1_Silent_p.N766N|C1QTNF9_uc001upe.2_RNA|SPATA13_uc010tcy.1_Silent_p.N87N|SPATA13_uc010tcz.1_Silent_p.N87N|SPATA13_uc010tda.1_Silent_p.N85N|SPATA13_uc001uph.2_Silent_p.N63N|SPATA13_uc010tdb.1_Silent_p.N63N	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	141	ABR (APC-binding region) domain.				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGGCCATCAATGAGGTACTGG	0.428													C	24858406	T	C	24858406	2	2	8	1	0	0	0	0	0	0	0	1	14999	1461	51	3		3	SPATA13	13	24858406	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	949279	24858406	90311472	1166	8188											
SPATA13	221178	broad.mit.edu	37	chr13	24861032	24861032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgcggaccaacgtcatcCgggagatcatggacaccgag	13	11	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:24861032C>T	uc001upg.1	+	6	1143	c.736C>T	c.(736-738)CGG>TGG	p.R246W	SPATA13_uc001upd.1_Missense_Mutation_p.R871W|C1QTNF9_uc001upe.2_RNA|SPATA13_uc010tcy.1_Missense_Mutation_p.R192W|SPATA13_uc010tcz.1_Intron|SPATA13_uc010tda.1_Missense_Mutation_p.R190W|SPATA13_uc001uph.2_Missense_Mutation_p.R168W|SPATA13_uc010tdb.1_Intron|SPATA13_uc009zzz.1_5'Flank	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	246	DH.				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CAACGTCATCCGGGAGATCAT	0.602													T	24861032	C	T	24861032	3	4	8	1	0	0	0	0	1	0	0	0	14999	643	23	1	2633	1	SPATA13	13	24861032	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2626	24861032	90308846	1167	8189											
PAN3	255967	broad.mit.edu	37	chr13	28841313	28841313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaatatcgtaactttgcGtgaagtatttaccactaaag	6	8	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:28841313G>A	uc001urz.2	+	10	1225	c.1217G>A	c.(1216-1218)CGT>CAT	p.R406H	PAN3_uc010tdo.1_Missense_Mutation_p.R552H|PAN3_uc001ury.2_Missense_Mutation_p.R240H|PAN3_uc001urx.2_Missense_Mutation_p.R352H	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	552	Protein kinase.|Interaction with PAN2.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GTAACTTTGCGTGAAGTATTT	0.378													A	28841313	G	A	28841313	3	1	8	1	0	0	0	0	1	0	0	0	11415	1145	40	1	1697	1	PAN3	13	28841313	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3980281	28841313	86328565	1168	8190											
SLC7A1	6541	broad.mit.edu	37	chr13	30091734	30091734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggctggttgaaatgttcaCaattagcccagagattttgg	12	6	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:30091734C>T	uc001uso.2	-	10	1873	c.1486G>A	c.(1486-1488)GTG>ATG	p.V496M		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	496	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GAAATGTTCACAATTAGCCCA	0.493													T	30091734	C	T	30091734	3	4	8	1	0	0	0	0	1	0	0	0	14692	478	17	4	419	4	SLC7A1	13	30091734	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1250421	30091734	85078144	1169	8191											
USPL1	10208	broad.mit.edu	37	chr13	31205139	31205139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaattatattgctattgaCggtggaaaagttttgaacag	10	3	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:31205139C>T	uc001utc.2	+	4	828	c.396C>T	c.(394-396)GAC>GAT	p.D132D	USPL1_uc001utb.2_Translation_Start_Site|USPL1_uc001utd.2_Intron	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	132					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(2)|skin(1)	3		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TTGCTATTGACGGTGGAAAAG	0.368													T	31205139	C	T	31205139	2	4	8	1	0	0	0	0	0	0	0	1	17089	535	19	1		1	USPL1	13	31205139	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1113405	31205139	83964739	1170	8192											
SOHLH2	54937	broad.mit.edu	37	chr13	36776105	36776105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatatgcaatcatccaaaagCgctgctgcctccttcgtgtc	7	13	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:36776105C>T	uc001uvj.2	-	2	263	c.174G>A	c.(172-174)GCG>GCA	p.A58A	SOHLH2_uc010tei.1_Silent_p.A135A	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	58					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CATCCAAAAGCGCTGCTGCCT	0.453													T	36776105	C	T	36776105	2	4	8	1	0	0	0	0	0	0	0	1	14924	755	27	1		1	SOHLH2	13	36776105	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	5570966	36776105	78393773	1171	8193											
SPG20	23111	broad.mit.edu	37	chr13	36888477	36888477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttctggttgaatccgctctCggagtttagaagcacctttc	9	11	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:36888477C>T	uc001uvn.2	-	7	1640	c.1370G>A	c.(1369-1371)CGA>CAA	p.R457Q	SPG20_uc010ten.1_Missense_Mutation_p.R447Q|SPG20_uc001uvm.2_Missense_Mutation_p.R457Q|SPG20_uc001uvo.2_Missense_Mutation_p.R457Q|SPG20_uc001uvq.2_Missense_Mutation_p.R457Q	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	457					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		AATCCGCTCTCGGAGTTTAGA	0.448													T	36888477	C	T	36888477	3	4	8	1	0	0	0	0	1	0	0	0	15041	884	31	1	646	1	SPG20	13	36888477	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	112372	36888477	78281401	1172	8194											
EXOSC8	11340	broad.mit.edu	37	chr13	37581201	37581201	+	Frame_Shift_Del	DEL	A	A	-													tttgctttgctagcggctttAaaaaatggtaagcagcctta							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:37581200_37581200TA>T	uc001uwa.3	+	7	744	c.479_479TA>T	c.(478-480)ttafs	p.L160fs	EXOSC8_uc001uvz.2_Non-coding_Transcript	NM_181503	NP_852480	Q96B26	EXOS8_HUMAN	Homo sapiens exosome component 8 (EXOSC8), mRNA.	160					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		CTAGCGGCTTTAAAAAATGGT	0.373													-	37581201	A	-	37581201	7	5	8	1	0	1	0	1	0	0	0	0	5320	359	13	0	510	0	EXOSC8	13	37581201	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	692724	37581201	77588677	1173	8195											
FAM48A	55578	broad.mit.edu	37	chr13	37598478	37598478	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactaagaaatgtaataccTgaggaactatttcctgagct	7	7	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:37598478T>C	uc001uwg.2	-	18	1679	c.1431A>G	c.(1429-1431)TCA>TCG	p.S477S	FAM48A_uc010abt.2_Silent_p.S478S|FAM48A_uc001uwh.2_Silent_p.S478S|FAM48A_uc001uwi.2_Silent_p.S477S|FAM48A_uc001uwj.2_Silent_p.S478S|FAM48A_uc001uwk.2_Silent_p.S477S|FAM48A_uc010tes.1_Silent_p.S441S|FAM48A_uc001uwl.1_Silent_p.S477S|FAM48A_uc001uwd.2_5'Flank|FAM48A_uc001uwe.2_5'UTR|FAM48A_uc001uwf.2_Silent_p.S55S	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	477					autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		ATGTAATACCTGAGGAACTAT	0.363													C	37598478	T	C	37598478	2	2	8	1	0	0	0	0	0	0	0	1	5572	1594	55	3		3	FAM48A	13	37598478	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	17277	37598478	77571400	1174	8196											
POSTN	10631	broad.mit.edu	37	chr13	38161966	38161966	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgataaaacttaccccattaGgataatggttaatgaaaagc	7	6	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:38161966G>T	uc001uwo.3	-	5	717	c.599C>A	c.(598-600)CCT>CAT	p.P200H	POSTN_uc001uwp.3_Missense_Mutation_p.P200H|POSTN_uc001uwr.2_Missense_Mutation_p.P200H|POSTN_uc001uwq.2_Missense_Mutation_p.P200H|POSTN_uc010teu.1_Missense_Mutation_p.P200H|POSTN_uc010tev.1_Missense_Mutation_p.P200H|POSTN_uc010tew.1_Missense_Mutation_p.P200H|POSTN_uc010tex.1_Missense_Mutation_p.P115H	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	200	FAS1 1.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TACCCCATTAGGATAATGGTT	0.269													T	38161966	G	T	38161966	3	4	8	1	0	0	0	0	1	0	0	0	12259	1000	35	5	1987	5	POSTN	13	38161966	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	563488	38161966	77007912	1175	8197											
C13orf23	80209	broad.mit.edu	37	chr13	39588012	39588012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttcacaccaagtggaccGgcaacgctgggagtagagcc	13	12	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:39588012G>A	uc001uwy.2	-	11	2250	c.1377C>T	c.(1375-1377)GCC>GCT	p.A459A	C13orf23_uc001uwz.2_Silent_p.A437A	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	459	Ser-rich.									ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)		CAAGTGGACCGGCAACGCTGG	0.493													A	39588012	G	A	39588012	2	1	8	1	0	0	0	0	0	0	0	1	1721	1103	39	1		1	C13orf23	13	39588012	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1426046	39588012	75581866	1176	8198											
COG6	57511	broad.mit.edu	37	chr13	40268797	40268797	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgagcaagtaatagttgcTgaacctggggcagttttatt	11	5	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:40268797T>C	uc001uxh.2	+	12	1201	c.1101T>C	c.(1099-1101)GCT>GCC	p.A367A	COG6_uc001uxi.2_Silent_p.A315A|COG6_uc010acb.2_Silent_p.A367A	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	367					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TAATAGTTGCTGAACCTGGGG	0.294													C	40268797	T	C	40268797	2	2	8	1	0	0	0	0	0	0	0	1	3662	1567	55	3		3	COG6	13	40268797	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	680785	40268797	74901081	1177	8199											
ZC3H13	23091	broad.mit.edu	37	chr13	46549634	46549634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctctctctcttctctttctCgttcccgttctttttccctg	3	16	6	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:46549634C>T	uc010tfw.1	-	11	2258	c.2252G>A	c.(2251-2253)CGA>CAA	p.R751Q	ZC3H13_uc001vas.1_Missense_Mutation_p.R751Q|ZC3H13_uc001vat.1_Missense_Mutation_p.R751Q	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	751	Arg/Glu-rich.|Potential.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ttctctttctcgttcccgttc	0.1													T	46549634	C	T	46549634	3	4	8	1	0	0	0	0	1	0	0	0	17562	884	31	1	2466	1	ZC3H13	13	46549634	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	6280837	46549634	68620244	1178	8200											
SUCLA2	8803	broad.mit.edu	37	chr13	48570982	48570982	+	Frame_Shift_Del	DEL	T	T	-													tttcttaatttagtacctaaTtttttggcaattgcataagc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:48570982delT	uc001vbs.2	-	2	324	c.267delA	c.(265-267)AAAfs	p.K89fs	SUCLA2_uc010tgb.1_Frame_Shift_Del_p.K29fs|SUCLA2_uc010tgc.1_5'UTR|SUCLA2_uc010tgd.1_Frame_Shift_Del_p.K29fs|SUCLA2_uc001vbt.1_RNA|SUCLA2_uc001vbu.1_Frame_Shift_Del_p.K89fs	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	89	ATP-grasp.				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)	1		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TAGTACCTAATTTTTTGGCAA	0.353													-	48570982	T	-	48570982	7	5	8	1	0	1	0	1	0	0	0	0	15362	1490	52	0	1164	0	SUCLA2	13	48570982	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	2021348	48570982	66598896	1179	8201											
SETDB2	83852	broad.mit.edu	37	chr13	50065970	50065970	+	Frame_Shift_Del	DEL	A	A	-													tgtggggttaataaatgtagAaaaaaaatattataaatatg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:50065969_50065969GA>G	uc001vcz.3	+	14	3050	c.2144_2144GA>G	c.(2143-2145)agafs	p.R715fs	SETDB2_uc001vda.3_Frame_Shift_Del_p.R703fs	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	Homo sapiens SET domain, bifurcated 2 (SETDB2), transcript variant 1, mRNA.	715					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		AATAAATGTAGAAAAAAAATA	0.373													-	50065970	A	-	50065970	7	5	8	1	0	1	0	1	0	0	0	0	14139	243	9	0	2199	0	SETDB2	13	50065970	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	1494988	50065970	65103908	1180	8202											
NEK5	341676	broad.mit.edu	37	chr13	52639603	52639603	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcccttcctgacgactgacGctaagcacagactcactgtc	7	15	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:52639603G>C	uc001vge.2	-	22	2207	c.2067C>G	c.(2065-2067)AGC>AGG	p.S689R		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	689							ATP binding|metal ion binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)	1		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GACGACTGACGCTAAGCACAG	0.552													C	52639603	G	C	52639603	3	2	8	1	0	0	0	0	1	0	0	0	10327	1078	38	5	63	5	NEK5	13	52639603	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2573633	52639603	62530275	1181	8203											
MYCBP2	23077	broad.mit.edu	37	chr13	77663139	77663139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgagaaagctcaggagacGgatgtctcaaaagggaagaa	14	7	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:77663139G>A	uc001vkf.2	-	62	10530	c.10439C>T	c.(10438-10440)CCG>CTG	p.P3480L	MYCBP2_uc010aev.2_Missense_Mutation_p.P2884L|MYCBP2_uc001vke.2_Missense_Mutation_p.P100L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTCAGGAGACGGATGTCTCAA	0.333													A	77663139	G	A	77663139	3	1	8	1	0	0	0	0	1	0	0	0	10018	1116	39	1	3575	1	MYCBP2	13	77663139	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	25023536	77663139	37506739	1182	8204											
POU4F1	5457	broad.mit.edu	37	chr13	79175623	79175623	+	Frame_Shift_Del	DEL	T	T	-													accacacccgcaccacgttcTttttgaggtccagtttctcg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:79175622_79175622CT>C	uc001vkv.3	-	1	1422	c.1188_1188AG>G	c.(1186-1188)aagfs	p.K396fs	BX647243_uc001vku.1_Intron	NM_006237	NP_006228	Q01851	PO4F1_HUMAN	Homo sapiens POU class 4 homeobox 1 (POU4F1), mRNA.	396					axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GCACCACGTTCTTTTTGAGGT	0.627													-	79175623	T	-	79175623	7	5	8	1	0	1	0	1	0	0	0	0	12278	1609	56	0	76	0	POU4F1	13	79175623	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	1512484	79175623	35994255	1183	8205											
SLITRK1	114798	broad.mit.edu	37	chr13	84455509	84455509	+	Frame_Shift_Del	DEL	T	T	-													gctgcagacttgtgaagcccTttttttcacagtctacgtgt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:84455508_84455508CT>C	uc001vlk.3	-	0	1021	c.135_135AG>G	c.(133-135)aagfs	p.K45fs		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	45	LRRNT.					integral to membrane		p.K45fs*64(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTGTGAAGCCCTTTTTTTCAC	0.463													-	84455509	T	-	84455509	7	5	8	1	0	1	0	1	0	0	0	0	14742	1609	56	0	1960	0	SLITRK1	13	84455509	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	5279886	84455509	30714369	1184	8206											
UGGT2	55757	broad.mit.edu	37	chr13	96665657	96665657	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgttctagtacccatttcGgcatagagaatcaccactgg	8	10	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:96665657G>A	uc001vmt.2	-	5	734	c.564C>T	c.(562-564)GCC>GCT	p.A188A	UGGT2_uc010afo.2_RNA|UGGT2_uc001vmv.2_Silent_p.A188A|UGGT2_uc010afp.2_Silent_p.A188A	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	188					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3						TACCCATTTCGGCATAGAGAA	0.338													A	96665657	G	A	96665657	2	1	8	1	0	0	0	0	0	0	0	1	16939	1103	39	1		1	UGGT2	13	96665657	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	12210148	96665657	18504221	1185	8207											
OXGR1	27199	broad.mit.edu	37	chr13	97639911	97639911	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccataaataacagggaggtAgtgcatcttgagtgggatgt	14	5	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:97639911A>G	uc001vmx.1	-	4	347	c.103T>C	c.(103-105)TAC>CAC	p.Y35H	OXGR1_uc010afr.1_Missense_Mutation_p.Y35H	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	35	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			ACAGGGAGGTAGTGCATCTTG	0.418													G	97639911	A	G	97639911	3	3	8	1	0	0	0	0	1	0	0	0	11332	420	15	3	914	3	OXGR1	13	97639911	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	974254	97639911	17529967	1186	8208											
NALCN	259232	broad.mit.edu	37	chr13	101910909	101910909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggatgaacatgtggaaaacgGatgaccgcatcattttctga	11	7	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:101910909G>A	uc001vox.1	-	11	1340	c.1151C>T	c.(1150-1152)TCC>TTC	p.S384F	NALCN_uc001voy.2_Missense_Mutation_p.S99F|NALCN_uc001voz.2_Missense_Mutation_p.S384F|NALCN_uc001vpa.2_Missense_Mutation_p.S384F	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	384	Helical; Name=S1 of repeat II; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGGAAAACGGATGACCGCAT	0.468													A	101910909	G	A	101910909	3	1	8	1	0	0	0	0	1	0	0	0	10148	1174	41	4	4201	4	NALCN	13	101910909	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4270998	101910909	13258969	1187	8209											
C13orf27	93081	broad.mit.edu	37	chr13	103418898	103418898	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtggattttatggggagcTtgcattttctgtgccacttt	11	7	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:103418898T>C	uc001vpo.2	-	6	715	c.537A>G	c.(535-537)CAA>CAG	p.Q179Q	C13orf27_uc001vpn.2_Silent_p.Q138Q|C13orf27_uc001vpp.2_Silent_p.Q138Q	NM_138779	NP_620134	Q5JUR7	CM027_HUMAN	hypothetical protein LOC93081	179											0	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TATGGGGAGCTTGCATTTTCT	0.373													C	103418898	T	C	103418898	2	2	8	1	0	0	0	0	0	0	0	1	1723	1606	56	3		3	C13orf27	13	103418898	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	1507989	103418898	11750980	1188	8210											
ARHGEF7	8874	broad.mit.edu	37	chr13	111944543	111944543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctagactccctggggcgtcGcagtagcctttctcgtttgg	12	13	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:111944543G>A	uc001vrs.2	+	20	2526	c.2276G>A	c.(2275-2277)CGC>CAC	p.R759H	ARHGEF7_uc001vrr.2_Missense_Mutation_p.R738H|ARHGEF7_uc001vrt.2_Missense_Mutation_p.R709H|ARHGEF7_uc001vrv.3_Intron|ARHGEF7_uc001vrw.3_Intron|ARHGEF7_uc001vrx.3_Intron|ARHGEF7_uc010tjo.1_Intron|ARHGEF7_uc010tjp.1_Missense_Mutation_p.R503H|ARHGEF7_uc001vry.1_Missense_Mutation_p.R175H	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	759					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CTGGGGCGTCGCAGTAGCCTT	0.532													A	111944543	G	A	111944543	3	1	8	1	0	0	0	0	1	0	0	0	911	1087	38	1	2354	1	ARHGEF7	13	111944543	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	8525645	111944543	3225335	1189	8211											
F7	2155	broad.mit.edu	37	chr13	113771857	113771857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatctgggtggtctccgCggcccactgtttcgacaaaa	10	14	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:113771857C>T	uc001vsv.2	+	8	803	c.752C>T	c.(751-753)GCG>GTG	p.A251V	F7_uc001vsw.2_Missense_Mutation_p.A229V|F7_uc010tjt.1_Missense_Mutation_p.A182V	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	251	Peptidase S1.		A -> P (in FA7D).|A -> T (in FA7D).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GTGGTCTCCGCGGCCCACTGT	0.617													T	113771857	C	T	113771857	3	4	8	1	0	0	0	0	1	0	0	0	5349	768	27	1	782	1	F7	13	113771857	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1827314	113771857	1398021	1190	8212											
PCID2	55795	broad.mit.edu	37	chr13	113854825	113854825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctgctgtcgatggcttcGtacacctgaaacatttgaaa	8	10	1	2	rs3751414		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:113854825G>A	uc010tju.1	-	2	123	c.42C>T	c.(40-42)TAC>TAT	p.Y14Y	PCID2_uc010tjv.1_Silent_p.Y14Y|PCID2_uc010tjw.1_Silent_p.Y14Y|PCID2_uc001vte.2_Translation_Start_Site|PCID2_uc001vtd.2_Translation_Start_Site|PCID2_uc001vtf.2_Translation_Start_Site|PCID2_uc001vtg.1_RNA	NM_001127203	NP_001120675	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	14					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding				0	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CGATGGCTTCGTACACCTGAA	0.408													A	113854825	G	A	113854825	2	1	8	1	0	0	0	0	0	0	0	1	11579	1140	40	1		1	PCID2	13	113854825	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	82968	113854825	1315053	1191	8213											
GAS6	2621	broad.mit.edu	37	chr13	114535359	114535359	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcagctccagccggccGgctctcagggccagcacgat	13	16	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:114535359G>A	uc001vud.2	-	10	1209	c.1056C>T	c.(1054-1056)GCC>GCT	p.A352A	GAS6_uc001vug.2_Silent_p.A53A|GAS6_uc001vuf.2_Silent_p.A79A	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	395	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CCAGCCGGCCGGCTCTCAGGG	0.647													A	114535359	G	A	114535359	2	1	8	1	0	0	0	0	0	0	0	1	6249	1103	39	1		1	GAS6	13	114535359	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	680534	114535359	634519	1192	8214											
TMEM55B	90809	broad.mit.edu	37	chr14	20928912	20928912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcaggtgatcataggggCactcccactgtccgggctag	14	12	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:20928912C>T	uc001vxl.2	-	2	388	c.235G>A	c.(235-237)GCC>ACC	p.A79T	TMEM55B_uc001vxk.2_Missense_Mutation_p.A86T	NM_144568	NP_653169	Q86T03	TM55B_HUMAN	transmembrane protein 55B isoform 2	79	Pro-rich.					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity				0	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		ATCATAGGGGCACTCCCACTG	0.572													T	20928912	C	T	20928912	3	4	8	1	0	0	0	0	1	0	0	0	16179	710	25	2	622	2	TMEM55B	14	20928912	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08		20928912	86420628	1193	8215											
TOX4	9878	broad.mit.edu	37	chr14	21955823	21955823	+	Frame_Shift_Del	DEL	G	G	-													atggcttgatggagcagggcGgggggctcctgagtgggggc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:21955822_21955822CG>C	uc001waz.3	+	2	391	c.288_288CG>C	c.(286-288)ggcfs	p.G96fs	TOX4_uc001way.3_5'UTR|TOX4_uc010tlu.2_Frame_Shift_Del_p.G73fs|TOX4_uc010tlv.2_Intron	NM_014828	NP_055643	O94842	TOX4_HUMAN	Homo sapiens TOX high mobility group box family member 4 (TOX4), mRNA.	96						PTW/PP1 phosphatase complex|chromatin|nucleus	DNA binding|protein binding	p.G96G(2)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TGGAGCAGGGCGGGGGGCTCC	0.562													-	21955823	G	-	21955823	7	5	8	1	0	1	0	1	0	0	0	0	16377	1116	39	0	299	0	TOX4	14	21955823	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	1026911	21955823	85393717	1194	8216											
SLC7A7	9056	broad.mit.edu	37	chr14	23243309	23243309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaggcagaagacaatcGggaagaaaacgctgagctaa	13	7	0	5			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:23243309G>A	uc001wgr.3	-	9	1400	c.1262C>T	c.(1261-1263)CCG>CTG	p.P421L	SLC7A7_uc001wgs.3_Missense_Mutation_p.P421L|SLC7A7_uc001wgt.3_Missense_Mutation_p.P421L|SLC7A7_uc001wgu.3_Missense_Mutation_p.P421L|SLC7A7_uc001wgv.3_Missense_Mutation_p.P421L	NM_003982	NP_003973	Q9UM01	YLAT1_HUMAN	solute carrier family 7 member 7	421	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			ovary(1)|breast(1)	2	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GAAGACAATCGGGAAGAAAAC	0.493													A	23243309	G	A	23243309	3	1	8	1	0	0	0	0	1	0	0	0	14703	1116	39	1	281	1	SLC7A7	14	23243309	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1287486	23243309	84106231	1195	8217											
RBM23	55147	broad.mit.edu	37	chr14	23371030	23371030	+	Frame_Shift_Del	DEL	G	G	-													ccctgagactcacatggtctGgggggtaaagaggctggaga							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:23371029_23371029TG>T	uc001whg.3	-	12	1509	c.1310_1310CA>A	c.(1309-1311)cagfs	p.Q437fs	RBM23_uc001whh.3_Frame_Shift_Del_p.Q421fs|RBM23_uc001whi.3_Frame_Shift_Del_p.Q403fs|RBM23_uc010tne.2_Frame_Shift_Del_p.Q267fs|RBM23_uc001whj.3_Frame_Shift_Del_p.Q187fs	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	Homo sapiens RNA binding motif protein 23 (RBM23), transcript variant 1, mRNA.	437					mRNA processing	nucleus	RNA binding|nucleotide binding	p.P436S(1)		endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TCACATGGTCTGGGGGGTAAA	0.502													-	23371030	G	-	23371030	7	5	8	1	0	1	0	1	0	0	0	0	13123	1357	47	0	18	0	RBM23	14	23371030	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	127721	23371030	83978510	1196	8218											
EFS	10278	broad.mit.edu	37	chr14	23829153	23829153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcctctccagggggctgCggggcaacccgggtcagagg	16	13	3	1	rs115947674	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:23829153C>T	uc001wjo.2	-	4	1142	c.534G>A	c.(532-534)CCG>CCA	p.P178P	EFS_uc001wjp.2_Silent_p.P85P|EFS_uc010tnm.1_Silent_p.P85P	NM_005864	NP_005855	O43281	EFS_HUMAN	embryonal Fyn-associated substrate isoform 1	178	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			large_intestine(1)	1	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CAGGGGGCTGCGGGGCAACCC	0.662													T	23829153	C	T	23829153	2	4	8	1	0	0	0	0	0	0	0	1	4959	755	27	1		1	EFS	14	23829153	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	458123	23829153	83520387	1197	8219											
MYH7	4625	broad.mit.edu	37	chr14	23886745	23886745	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcttcttgtccagggcTgcagcagcagcattggagcg	13	12	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:23886745T>C	uc001wjx.2	-	31	4426	c.4320A>G	c.(4318-4320)GCA>GCG	p.A1440A		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1440	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGTCCAGGGCTGCAGCAGCAG	0.602													C	23886745	T	C	23886745	2	2	8	1	0	0	0	0	0	0	0	1	10039	1567	55	3		3	MYH7	14	23886745	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	57592	23886745	83462795	1198	8220											
AP1G2	8906	broad.mit.edu	37	chr14	24032638	24032638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggcggcgcacagagtagGcatgtagctcctgggccccc	15	13	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:24032638G>A	uc001wkl.2	-	14	1698	c.1361C>T	c.(1360-1362)GCC>GTC	p.A454V	AP1G2_uc001wkj.2_Missense_Mutation_p.A73V|AP1G2_uc001wkk.3_Missense_Mutation_p.A382V|AP1G2_uc001wkn.2_Missense_Mutation_p.A73V|uc001wko.1_Intron|AP1G2_uc001wkp.1_RNA|AP1G2_uc010tnp.1_Missense_Mutation_p.A454V	NM_003917	NP_003908	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2	454					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			ovary(1)	1	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CACAGAGTAGGCATGTAGCTC	0.627											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	24032638	G	A	24032638	3	1	8	1	0	0	0	0	1	0	0	0	733	1203	42	2	1032	2	AP1G2	14	24032638	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	145893	24032638	83316902	1199	8221											
CPNE6	9362	broad.mit.edu	37	chr14	24542713	24542713	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaccactaccacaggtagaGcgcacagaggtgcttcgctc	10	14	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:24542713G>T	uc001wll.2	+	3	273	c.174G>T	c.(172-174)GAG>GAT	p.E58D	CPNE6_uc010tnv.1_Missense_Mutation_p.E113D|CPNE6_uc001wlm.2_5'UTR|CPNE6_uc001wln.2_5'Flank	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	58	C2 1.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0184)		CACAGGTAGAGCGCACAGAGG	0.577													T	24542713	G	T	24542713	3	4	8	1	0	0	0	0	1	0	0	0	3816	962	34	5	180	5	CPNE6	14	24542713	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	510075	24542713	82806827	1200	8222											
CPNE6	9362	broad.mit.edu	37	chr14	24542860	24542860	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccgaaatgataccttcctCggctctacggagtgcacctt	8	15	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:24542860C>T	uc001wll.2	+	3	420	c.321C>T	c.(319-321)CTC>CTT	p.L107L	CPNE6_uc010tnv.1_Silent_p.L162L|CPNE6_uc001wlm.2_5'UTR|CPNE6_uc001wln.2_5'Flank	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	107	C2 1.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0184)		ATACCTTCCTCGGCTCTACGG	0.587													T	24542860	C	T	24542860	2	4	8	1	0	0	0	0	0	0	0	1	3816	871	31	1		1	CPNE6	14	24542860	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	147	24542860	82806680	1201	8223											
RNF31	55072	broad.mit.edu	37	chr14	24621133	24621133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgaggcacagccaggacCgggccttcctgcgccgcttg	14	15	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:24621133C>T	uc001wmn.1	+	11	2311	c.2062C>T	c.(2062-2064)CGG>TGG	p.R688W	RNF31_uc001wml.1_Missense_Mutation_p.R537W|RNF31_uc001wmm.1_RNA|RNF31_uc010alg.1_Missense_Mutation_p.R447W|RNF31_uc001wmo.1_Missense_Mutation_p.R155W|RNF31_uc001wmp.2_RNA	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	688					CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		CAGCCAGGACCGGGCCTTCCT	0.647													T	24621133	C	T	24621133	3	4	8	1	0	0	0	0	1	0	0	0	13487	643	23	1	2104	1	RNF31	14	24621133	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	78273	24621133	82728407	1202	8224											
TGM1	7051	broad.mit.edu	37	chr14	24731001	24731001	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgcactatcagctcgtcGtactcatactcgtctgtgtg	10	13	3	0	rs142338588		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:24731001G>A	uc001wod.2	-	3	532	c.408C>T	c.(406-408)TAC>TAT	p.Y136Y	TGM1_uc010tog.1_Intron	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	136					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TCAGCTCGTCGTACTCATACT	0.577													A	24731001	G	A	24731001	2	1	8	1	0	0	0	0	0	0	0	1	15826	1140	40	1		1	TGM1	14	24731001	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	109868	24731001	82618539	1203	8225											
NFATC4	4776	broad.mit.edu	37	chr14	24838782	24838782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatggcgctgcacctatcGgtattccccgacctccaccc	7	19	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:24838782G>A	uc001wpc.2	+	2	499	c.178G>A	c.(178-180)GGT>AGT	p.G60S	NFATC4_uc010tok.1_Missense_Mutation_p.G123S|NFATC4_uc010tol.1_Missense_Mutation_p.G123S|NFATC4_uc010alr.2_Missense_Mutation_p.G123S|NFATC4_uc010als.2_Missense_Mutation_p.G73S|NFATC4_uc010tom.1_Missense_Mutation_p.G73S|NFATC4_uc010ton.1_Missense_Mutation_p.G73S|NFATC4_uc010too.1_Missense_Mutation_p.G73S|NFATC4_uc010alt.2_Missense_Mutation_p.G92S|NFATC4_uc010top.1_Missense_Mutation_p.G92S|NFATC4_uc010toq.1_Missense_Mutation_p.G92S|NFATC4_uc010alu.2_Missense_Mutation_p.G60S|NFATC4_uc010tor.1_Missense_Mutation_p.G60S|NFATC4_uc010tos.1_5'UTR|NFATC4_uc010tot.1_Missense_Mutation_p.G48S|NFATC4_uc010tou.1_5'UTR|NFATC4_uc010tov.1_Missense_Mutation_p.G48S|NFATC4_uc010tow.1_5'UTR|NFATC4_uc010alv.2_Missense_Mutation_p.G48S|NFATC4_uc010tox.1_5'UTR	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	60	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		TGCACCTATCGGTATTCCCCG	0.667													A	24838782	G	A	24838782	3	1	8	1	0	0	0	0	1	0	0	0	10365	1116	39	1	377	1	NFATC4	14	24838782	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	107781	24838782	82510758	1204	8226											
STRN3	29966	broad.mit.edu	37	chr14	31364745	31364745	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttatttcttgcacacatgTcttgctgtctaaattccata	5	9	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:31364745T>C	uc001wqu.2	-	18	2482	c.2266A>G	c.(2266-2268)ACA>GCA	p.T756A	STRN3_uc001wqv.2_Missense_Mutation_p.T672A|STRN3_uc010tpj.1_RNA	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	nuclear autoantigen isoform 1	756	WD 5.				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TGCACACATGTCTTGCTGTCT	0.353													C	31364745	T	C	31364745	3	2	8	1	0	0	0	0	1	0	0	0	15329	1667	58	3	131	3	STRN3	14	31364745	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	6525963	31364745	75984795	1205	8227											
HECTD1	25831	broad.mit.edu	37	chr14	31588960	31588960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtctgctggacattagtaCgaccaggtctaggatcaaaa	10	8	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:31588960C>T	uc001wrc.1	-	29	5840	c.5351G>A	c.(5350-5352)CGT>CAT	p.R1784H	HECTD1_uc001wra.1_5'UTR|HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.R1252H	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1784					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GACATTAGTACGACCAGGTCT	0.393													T	31588960	C	T	31588960	3	4	8	1	0	0	0	0	1	0	0	0	7039	536	19	1	2541	1	HECTD1	14	31588960	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	224215	31588960	75760580	1206	8228											
SSTR1	6751	broad.mit.edu	37	chr14	38679687	38679687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagagccgtgcctacagtGtggaagacttccaacctgag	11	11	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:38679687G>A	uc001wul.1	+	3	1710	c.1093G>A	c.(1093-1095)GTG>ATG	p.V365M	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	365	Cytoplasmic (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			central_nervous_system(3)|ovary(1)|lung(1)	5	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TGCCTACAGTGTGGAAGACTT	0.632													A	38679687	G	A	38679687	3	1	8	1	0	0	0	0	1	0	0	0	15196	1377	48	4	1095	4	SSTR1	14	38679687	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	7090727	38679687	68669853	1207	8229											
SIP1	8487	broad.mit.edu	37	chr14	39601231	39601231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgaggctcattcactgattCggcagcttgcaagaaggtgc	12	10	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:39601231C>T	uc001wuq.2	+	8	725	c.703C>T	c.(703-705)CGG>TGG	p.R235W	SIP1_uc001wur.2_Missense_Mutation_p.R235W|SIP1_uc001wus.2_Missense_Mutation_p.R220W|SIP1_uc010amx.2_RNA	NM_003616	NP_003607	O14893	GEMI2_HUMAN	SMN-interacting protein 1 isoform alpha	235					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding				0	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0121)		TTCACTGATTCGGCAGCTTGC	0.358													T	39601231	C	T	39601231	3	4	8	1	0	0	0	0	1	0	0	0	14327	875	31	1	733	1	SIP1	14	39601231	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	921544	39601231	67748309	1208	8230											
FKBP3	2287	broad.mit.edu	37	chr14	45603570	45603570	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accgaatctgaaccgtgttcCtgcagaaacttgataatgtc	8	10	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:45603570C>A	uc010tqf.1	-	1	163	c.90G>T	c.(88-90)CAG>CAT	p.Q30H	FANCM_uc001wwc.2_5'Flank|FANCM_uc001wwd.3_5'Flank|FANCM_uc010anf.2_5'Flank	NM_002013	NP_002004	Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	30					protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity				0						AACCGTGTTCCTGCAGAAACT	0.637													A	45603570	C	A	45603570	3	1	8	1	0	0	0	0	1	0	0	0	5909	680	24	5	612	5	FKBP3	14	45603570	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	6002339	45603570	61745970	1209	8231											
NIN	51199	broad.mit.edu	37	chr14	51208344	51208344	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttatgtaaagacatcacttCttgttttaaagcctcctttt	4	9	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:51208344C>A	uc001wym.2	-	25	5595	c.5404G>T	c.(5404-5406)GAA>TAA	p.E1802*	NIN_uc001wyi.2_Nonsense_Mutation_p.E1802*|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Nonsense_Mutation_p.E1089*|NIN_uc010tqp.1_Nonsense_Mutation_p.E1808*|NIN_uc001wyo.2_Nonsense_Mutation_p.E1802*|NIN_uc001wyn.2_5'Flank	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1802	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					GACATCACTTCTTGTTTTAAA	0.328			T	PDGFRB	MPD								A	51208344	C	A	51208344	4	1	8	1	0	0	0	0	0	1	0	0	10417	922	32	5	1173	5	NIN	14	51208344	Nonsense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	5604774	51208344	56141196	1210	8232											
PYGL	5836	broad.mit.edu	37	chr14	51375597	51375597	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcaggctgcttgggagAaaaaaagccattgtcaattt	12	6	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:51375597A>G	uc001wyu.2	-	18	2381	c.2254T>C	c.(2254-2256)TCT>CCT	p.S752P	PYGL_uc010tqq.1_Missense_Mutation_p.S718P|PYGL_uc001wyv.2_Missense_Mutation_p.S426P|PYGL_uc001wyt.2_5'Flank	NM_002863	NP_002854	P06737	PYGL_HUMAN	liver glycogen phosphorylase isoform 1	752					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	p.S752F(1)		skin(1)	1	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TGCTTGGGAGAAAAAAAGCCA	0.443													G	51375597	A	G	51375597	3	3	8	1	0	0	0	0	1	0	0	0	12861	246	9	3	301	3	PYGL	14	51375597	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	167253	51375597	55973943	1211	8233											
NID2	22795	broad.mit.edu	37	chr14	52534592	52534592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctctcccgagggcagcGccccgcgcttgacctcctcg	10	19	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:52534592G>A	uc001wzo.2	-	2	752	c.518C>T	c.(517-519)GCG>GTG	p.A173V	NID2_uc010tqs.1_Missense_Mutation_p.A173V|NID2_uc010tqt.1_Missense_Mutation_p.A173V|NID2_uc001wzp.2_Missense_Mutation_p.A173V	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	173	NIDO.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					CGAGGGCAGCGCCCCGCGCTT	0.637													A	52534592	G	A	52534592	3	1	8	1	0	0	0	0	1	0	0	0	10415	1087	38	1	3693	1	NID2	14	52534592	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1158995	52534592	54814948	1212	8234											
NID2	22795	broad.mit.edu	37	chr14	52535601	52535601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccacgactccccgtgtgGgaagagctcgtctgggtgca	13	15	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:52535601G>A	uc001wzo.2	-	1	346	c.112C>T	c.(112-114)CCA>TCA	p.P38S	NID2_uc010tqs.1_Missense_Mutation_p.P38S|NID2_uc010tqt.1_Missense_Mutation_p.P38S|NID2_uc001wzp.2_Missense_Mutation_p.P38S	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	38						basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					TCCCCGTGTGGGAAGAGCTCG	0.672													A	52535601	G	A	52535601	3	1	8	1	0	0	0	0	1	0	0	0	10415	1232	43	4	4103	4	NID2	14	52535601	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1009	52535601	54813939	1213	8235											
PTGDR	5729	broad.mit.edu	37	chr14	52735263	52735263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgcaccagggactgtgCcgagccgcgcgcggacggga	16	15	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:52735263C>T	uc001wzq.2	+	1	833	c.731C>T	c.(730-732)GCC>GTC	p.A244V		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	244	Cytoplasmic (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	AGGGACTGTGCCGAGCCGCGC	0.687													T	52735263	C	T	52735263	3	4	8	1	0	0	0	0	1	0	0	0	12741	739	26	2	733	2	PTGDR	14	52735263	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	199662	52735263	54614277	1214	8236											
DDHD1	80821	broad.mit.edu	37	chr14	53619158	53619158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccggaactggaggctgggCccgtgggggagcacacatgg	18	11	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:53619158C>T	uc001xai.2	-	1	889	c.659G>A	c.(658-660)GGC>GAC	p.G220D	DDHD1_uc001xaj.2_Missense_Mutation_p.G220D|DDHD1_uc001xah.2_Missense_Mutation_p.G220D	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	220					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)					GGAGGCTGGGCCCGTGGGGGA	0.697													T	53619158	C	T	53619158	3	4	8	1	0	0	0	0	1	0	0	0	4326	739	26	2	2120	2	DDHD1	14	53619158	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	883895	53619158	53730382	1215	8237											
KIAA0831	22863	broad.mit.edu	37	chr14	55848756	55848756	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccattgttagggaggctaatCcaaggccctgtaatgctaat	10	9	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:55848756C>T	uc001xbx.1	-	6	837	c.801G>A	c.(799-801)TGG>TGA	p.W267*	FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Nonsense_Mutation_p.W154*	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Barkor	267					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding				0						GGAGGCTAATCCAAGGCCCTG	0.527													T	55848756	C	T	55848756	4	4	8	1	0	0	0	0	0	1	0	0	8195	856	30	4	697	4	KIAA0831	14	55848756	Nonsense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2229598	55848756	51500784	1216	8238											
C14orf37	145407	broad.mit.edu	37	chr14	58563560	58563560	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggatgtgataccagggagGgtaaaacctggcagctcagt	15	7	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:58563560G>T	uc001xdc.2	-	5	2082	c.1971C>A	c.(1969-1971)ACC>ACA	p.T657T	C14orf37_uc010tro.1_Silent_p.T695T|C14orf37_uc001xdd.2_Silent_p.T657T	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	hypothetical protein LOC145407 precursor	657	Extracellular (Potential).					integral to membrane	binding				0						TACCAGGGAGGGTAAAACCTG	0.443													T	58563560	G	T	58563560	2	4	8	1	0	0	0	0	0	0	0	1	1771	1219	43	5		5	C14orf37	14	58563560	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2714804	58563560	48785980	1217	8239											
KIAA0586	9786	broad.mit.edu	37	chr14	59014534	59014534	+	Frame_Shift_Del	DEL	C	C	-													cactctccgcttcacagatgCcccctgccaagatgtcagtg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:59014533_59014533GC>G	uc010trr.2	+	33	5018	c.4774_4774GC>G	c.(4774-4776)gccfs	p.A1592fs	KIAA0586_uc001xdu.4_Frame_Shift_Del_p.M1495fs|KIAA0586_uc010trs.2_Frame_Shift_Del_p.M1425fs|KIAA0586_uc001xdt.4_Frame_Shift_Del_p.M1466fs|KIAA0586_uc001xdv.4_Frame_Shift_Del_p.M1434fs	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	0										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTCACAGATGCCCCCTGCCA	0.522													-	59014534	C	-	59014534	7	5	8	1	0	1	0	1	0	0	0	0	8186	739	26	0	4421	0	KIAA0586	14	59014534	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	450974	59014534	48335006	1218	8240											
DACT1	51339	broad.mit.edu	37	chr14	59108339	59108339	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgagtgatggggcttcaGgatccctttccaattcctct	10	11	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:59108339G>T	uc001xdw.2	+	3	672	c.508G>T	c.(508-510)GGA>TGA	p.G170*	DACT1_uc010trv.1_Translation_Start_Site|DACT1_uc001xdx.2_Nonsense_Mutation_p.G170*|DACT1_uc010trw.1_Translation_Start_Site	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	170					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						TGGGGCTTCAGGATCCCTTTC	0.433													T	59108339	G	T	59108339	4	4	8	1	0	0	0	0	0	1	0	0	4222	1001	35	5	518	5	DACT1	14	59108339	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	93805	59108339	48241201	1219	8241											
MNAT1	4331	broad.mit.edu	37	chr14	61201664	61201667	+	Frame_Shift_Del	DEL	CACT	CACT	-													atggtgaatgtgtgcggacaCactctgtgagttgggcggca							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:61201663_61201666ACACT>A	uc001xfd.3	+	0	205_208	c.83_86ACACT>A	c.(82-87)cacactfs	p.H28fs	MNAT1_uc010apq.2_Frame_Shift_Del_p.H28fs|MNAT1_uc001xfe.3_Frame_Shift_Del_p.H28fs	NM_002431	NP_002422	P51948	MAT1_HUMAN	Homo sapiens menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis) (MNAT1), transcript variant 1, mRNA.	28					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell proliferation|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		GTGTGCGGACACACTCTGTGAGTT	0.598								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					-	61201667	CACT	-	61201664	7	5	8	1	0	1	0	1	0	0	0	0	9674	477	17	0	86	0	MNAT1	14	61201664	Frame_Shift_Del	DEL	CACT	TCGA-BR-4201-01A-01D-1126-08	2093325	61201664	46147876	1220	8242											
C14orf50	145376	broad.mit.edu	37	chr14	65053973	65053973	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgacgtcaacacttgacagAgattgaagaagaagtaggga	12	7	1	5			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:65053973A>G	uc001xhl.1	+	10	869	c.773A>G	c.(772-774)GAG>GGG	p.E258G	C14orf50_uc001xhm.1_5'UTR	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	hypothetical protein LOC145376	258										skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)		CACTTGACAGAGATTGAAGAA	0.423													G	65053973	A	G	65053973	3	3	8	1	0	0	0	0	1	0	0	0	1777	304	11	3	811	3	C14orf50	14	65053973	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	3852309	65053973	42295567	1221	8243											
FUT8	2530	broad.mit.edu	37	chr14	66082939	66082939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgactacaggtctggggaaGgatcatgaaatcctgaggag	14	6	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:66082939G>A	uc001xin.2	+	5	1527	c.330G>A	c.(328-330)AAG>AAA	p.K110K	FUT8_uc001xio.2_Silent_p.K110K|FUT8_uc010tsp.1_5'UTR|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Silent_p.K110K|FUT8_uc001xiq.2_5'UTR	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 isoform a	110	Lumenal (Potential).				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GTCTGGGGAAGGATCATGAAA	0.373													A	66082939	G	A	66082939	2	1	8	1	0	0	0	0	0	0	0	1	6110	991	35	4		4	FUT8	14	66082939	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1028966	66082939	41266601	1222	8244											
GPHN	10243	broad.mit.edu	37	chr14	67431987	67431987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcactactccttcagaatCgcctcgtgctcaggctacat	7	15	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:67431987C>T	uc001xiy.2	+	8	1930	c.809C>T	c.(808-810)TCG>TTG	p.S270L	GPHN_uc001xiw.2_Missense_Mutation_p.S285L|GPHN_uc001xix.2_Missense_Mutation_p.S303L|GPHN_uc010tss.1_Missense_Mutation_p.S283L|GPHN_uc010tst.1_Missense_Mutation_p.S239L|GPHN_uc010tsu.1_Missense_Mutation_p.S193L	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	270	Interaction with GABARAP (By similarity).				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		CCTTCAGAATCGCCTCGTGCT	0.498			T	MLL	AL								T	67431987	C	T	67431987	3	4	8	1	0	0	0	0	1	0	0	0	6610	893	31	1	942	1	GPHN	14	67431987	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1349048	67431987	39917553	1223	8245											
GPHN	10243	broad.mit.edu	37	chr14	67576927	67576927	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaataccctgcggtgctgAtgcagtagtacaagtggaag	12	9	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:67576927A>G	uc001xiy.2	+	13	2386	c.1265A>G	c.(1264-1266)GAT>GGT	p.D422G	GPHN_uc001xix.2_Missense_Mutation_p.D455G|GPHN_uc010tss.1_Missense_Mutation_p.D468G|GPHN_uc010tst.1_Missense_Mutation_p.D391G|GPHN_uc010tsu.1_Missense_Mutation_p.D345G	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	422	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TGCGGTGCTGATGCAGTAGTA	0.443			T	MLL	AL								G	67576927	A	G	67576927	3	3	8	1	0	0	0	0	1	0	0	0	6610	333	12	3	1418	3	GPHN	14	67576927	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	144940	67576927	39772613	1224	8246											
MAP3K9	4293	broad.mit.edu	37	chr14	71209080	71209080	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactgaccagaagggaggcTgatgcggttgccatccttga	13	11	0	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:71209080T>C	uc001xmm.2	-	6	1555	c.1555A>G	c.(1555-1557)AGC>GGC	p.S519G	MAP3K9_uc010ttk.1_Missense_Mutation_p.S256G|MAP3K9_uc001xmk.2_Missense_Mutation_p.S213G|MAP3K9_uc001xml.2_Missense_Mutation_p.S519G	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	519				KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4).	activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAAGGGAGGCTGATGCGGTTG	0.607													C	71209080	T	C	71209080	3	2	8	1	0	0	0	0	1	0	0	0	9257	1580	55	3	1833	3	MAP3K9	14	71209080	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	3632153	71209080	36140460	1225	8247											
LTBP2	4053	broad.mit.edu	37	chr14	75022341	75022341	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggtgaagtcggacagtgcGggacaaccccacgtgctgct	15	12	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:75022341G>T	uc001xqa.2	-	4	1273	c.886C>A	c.(886-888)CGC>AGC	p.R296S		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	296					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CGGACAGTGCGGGACAACCCC	0.657													T	75022341	G	T	75022341	3	4	8	1	0	0	0	0	1	0	0	0	9074	1116	39	5	4711	5	LTBP2	14	75022341	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3813261	75022341	32327199	1226	8248											
TMED8	283578	broad.mit.edu	37	chr14	77802683	77802683	+	RNA	DEL	A	A	-													ggtccacatacctggggcctAaaaaaatcaggtacatataa							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:77802683delA	uc010ast.1	-	7		c.2185delT				NM_213601		Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain						transport	integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCTGGGGCCTAAAAAAATCAG	0.378													-	77802683	A	-	77802683	6	5	8	0	1	1	0	1	0	0	0	0	16008	377	13	0		0	TMED8	14	77802683	RNA	DEL	A	TCGA-BR-4201-01A-01D-1126-08	2780342	77802683	29546857	1227	8249											
VIPAR	63894	broad.mit.edu	37	chr14	77895366	77895366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatcaatgacgacatcatGgcacttgaacttagtggcta	8	10	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:77895366G>A	uc001xtt.1	-	19	1677	c.1339C>T	c.(1339-1341)CAT>TAT	p.H447Y	VIPAR_uc001xtu.1_Missense_Mutation_p.H447Y|VIPAR_uc010tvj.1_Missense_Mutation_p.H398Y|VIPAR_uc001xtv.1_Missense_Mutation_p.H447Y	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	hypothetical protein LOC63894	447					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding			central_nervous_system(1)	1						ACGACATCATGGCACTTGAAC	0.453													A	77895366	G	A	77895366	3	1	8	1	0	0	0	0	1	0	0	0	17165	1348	47	4	154	4	VIPAR	14	77895366	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	92683	77895366	29454174	1228	8250											
NRXN3	9369	broad.mit.edu	37	chr14	79933651	79933651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagcacgcggtctgaccGccttgccgtgggcttcagca	13	16	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:79933651G>A	uc001xun.2	+	13	2722	c.2231G>A	c.(2230-2232)CGC>CAC	p.R744H	NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.R112H|NRXN3_uc010asw.2_Missense_Mutation_p.R112H|NRXN3_uc001xur.3_Missense_Mutation_p.R112H	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1117	Extracellular (Potential).|Laminin G-like 6.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGGTCTGACCGCCTTGCCGTG	0.567													A	79933651	G	A	79933651	3	1	8	1	0	0	0	0	1	0	0	0	10667	1087	38	1	2524	1	NRXN3	14	79933651	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2038285	79933651	27415889	1229	8251											
C14orf102	55051	broad.mit.edu	37	chr14	90759058	90759059	+	Frame_Shift_Del	DEL	CA	CA	-													tgcctgtctctcgggatcctCacagtcttcctcggtttgct							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:90759057_90759058TCA>T	uc001xyi.2	-	8	2058_2059	c.1825_1826TGA>A	c.(1825-1827)gagfs	p.E609fs	C14orf102_uc010atp.1_Frame_Shift_Del_p.E114fs|C14orf102_uc001xyj.2_Frame_Shift_Del_p.E378fs	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	609							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		CTCGGGATCCTCACAGTCTTCC	0.599													-	90759059	CA	-	90759058	7	5	8	1	0	1	0	1	0	0	0	0	1735	835	29	0	1693	0	C14orf102	14	90759058	Frame_Shift_Del	DEL	CA	TCGA-BR-4201-01A-01D-1126-08	10825407	90759058	16590482	1230	8252											
SMEK1	55671	broad.mit.edu	37	chr14	91942843	91942843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtagcgtttgggaaaacGcacaaaattcttttaaaaag	9	6	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:91942843G>A	uc001xzn.2	-	6	1841	c.1019C>T	c.(1018-1020)GCG>GTG	p.A340V	SMEK1_uc001xzm.2_Missense_Mutation_p.A340V|SMEK1_uc001xzo.2_Missense_Mutation_p.A340V|SMEK1_uc010atz.2_Missense_Mutation_p.A101V|SMEK1_uc001xzp.1_RNA|SMEK1_uc001xzq.1_Missense_Mutation_p.A216V	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1	340						microtubule organizing center|nucleus	protein binding				0		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TTGGGAAAACGCACAAAATTC	0.259													A	91942843	G	A	91942843	3	1	8	1	0	0	0	0	1	0	0	0	14793	1087	38	1	1483	1	SMEK1	14	91942843	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1183785	91942843	15406697	1231	8253											
GOLGA5	9950	broad.mit.edu	37	chr14	93273171	93273171	+	Frame_Shift_Del	DEL	C	C	-													tgctgcctgccctgaccacaCcccaacacctaatgatgatg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:93273170_93273170AC>A	uc001yaz.1	+	2	816	c.634_634AC>A	c.(634-636)accfs	p.T212fs		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Homo sapiens golgin A5 (GOLGA5), mRNA.	212					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|Rab GTPase binding|protein homodimerization activity|protein tyrosine kinase activity			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CCCTGACCACACCCCAACACC	0.418			T	RET	papillary thyroid								-	93273171	C	-	93273171	7	5	8	1	0	1	0	1	0	0	0	0	6556	507	18	0	641	0	GOLGA5	14	93273171	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	1330328	93273171	14076369	1232	8254											
GOLGA5	9950	broad.mit.edu	37	chr14	93299632	93299632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaacagcagatgaactccGcctctggaagtagtagtaat	10	9	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:93299632G>A	uc001yaz.1	+	10	2067	c.1885G>A	c.(1885-1887)GCC>ACC	p.A629T	GOLGA5_uc001yba.1_Missense_Mutation_p.A26T	NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	629	Cytoplasmic (Potential).|Potential.				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GATGAACTCCGCCTCTGGAAG	0.428			T	RET	papillary thyroid								A	93299632	G	A	93299632	3	1	8	1	0	0	0	0	1	0	0	0	6556	1087	38	1	1919	1	GOLGA5	14	93299632	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	26461	93299632	14049908	1233	8255											
BTBD7	55727	broad.mit.edu	37	chr14	93709015	93709015	+	Frame_Shift_Del	DEL	T	T	-													tctctcctagcttcttcctgTtttttaggagacgtctgacc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:93709014_93709014GT>G	uc001ybo.3	-	10	3330	c.3004_3004AC>C	c.(3004-3006)cagfs	p.Q1002fs	BTBD7_uc010aur.3_Frame_Shift_Del_p.Q527fs|BTBD7_uc010two.2_Frame_Shift_Del_p.Q822fs|BTBD7_uc001ybp.3_Frame_Shift_Del_p.Q651fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	1002										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTTCTTCCTGTTTTTTAGGA	0.488													-	93709015	T	-	93709015	7	5	8	1	0	1	0	1	0	0	0	0	1546	1722	60	0	399	0	BTBD7	14	93709015	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	409383	93709015	13640525	1234	8256											
BTBD7	55727	broad.mit.edu	37	chr14	93760502	93760502	+	Frame_Shift_Del	DEL	A	A	-													ctcctttgtaataaatttcgAaaaaatggggaccgtgcaga							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:93760501_93760501GA>G	uc001ybo.3	-	2	1191	c.865_865TC>C	c.(865-867)cgafs	p.R289fs	BTBD7_uc010aur.3_5'UTR|BTBD7_uc010two.2_Frame_Shift_Del_p.R204fs|BTBD7_uc001ybp.3_Intron|BTBD7_uc001ybq.4_Frame_Shift_Del_p.R204fs|BTBD7_uc001ybr.3_Frame_Shift_Del_p.R289fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	289	BTB 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AATAAATTTCGAAAAAATGGG	0.398													-	93760502	A	-	93760502	7	5	8	1	0	1	0	1	0	0	0	0	1546	243	9	0	2645	0	BTBD7	14	93760502	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	51487	93760502	13589038	1235	8257											
OTUB2	78990	broad.mit.edu	37	chr14	94510971	94510971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtagagaaggatggctcaGtgtccagcctgctgaaggtg	16	7	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:94510971G>A	uc001yci.2	+	5	503	c.343G>A	c.(343-345)GTG>ATG	p.V115M		NM_023112	NP_075601	Q96DC9	OTUB2_HUMAN	OTU domain, ubiquitin aldehyde binding 2	115	OTU.				cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity				0		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		GGATGGCTCAGTGTCCAGCCT	0.612													A	94510971	G	A	94510971	3	1	8	1	0	0	0	0	1	0	0	0	11312	1029	36	4	361	4	OTUB2	14	94510971	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	750469	94510971	12838569	1236	8258											
VRK1	7443	broad.mit.edu	37	chr14	97326912	97326912	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaaattgccaaatacaTggaaacagtgaaattactag	9	5	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:97326912T>C	uc001yft.2	+	11	1014	c.908T>C	c.(907-909)ATG>ACG	p.M303T		NM_003384	NP_003375	Q99986	VRK1_HUMAN	vaccinia related kinase 1	303	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|stomach(1)	2		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		GCCAAATACATGGAAACAGTG	0.279													C	97326912	T	C	97326912	3	2	8	1	0	0	0	0	1	0	0	0	17216	1464	51	3	946	3	VRK1	14	97326912	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	2815941	97326912	10022628	1237	8259											
EVL	51466	broad.mit.edu	37	chr14	100551127	100551127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagggattcagccggatcAacatctaccacaacactgcc	8	14	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:100551127A>G	uc001ygt.2	+	2	348	c.109A>G	c.(109-111)AAC>GAC	p.N37D	EVL_uc001ygv.2_Missense_Mutation_p.N43D|EVL_uc001ygu.2_Missense_Mutation_p.N39D|EVL_uc010avu.2_5'UTR	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Enah/Vasp-like	37	WH1.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			large_intestine(2)|ovary(1)	3		Melanoma(154;0.152)				CAGCCGGATCAACATCTACCA	0.517													G	100551127	A	G	100551127	3	3	8	1	0	0	0	0	1	0	0	0	5291	130	5	3	121	3	EVL	14	100551127	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	3224215	100551127	6798413	1238	8260											
DLK1	8788	broad.mit.edu	37	chr14	101200555	101200555	+	Frame_Shift_Del	DEL	C	C	-													tcccatgcctcctgcctgtgCccccctggcttctcaggcaa							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:101200554_101200554GC>G	uc001yhs.4	+	4	677	c.473_473GC>G	c.(472-474)tgcfs	p.C158fs	DLK1_uc001yhu.4_Frame_Shift_Del_p.C158fs|DLK1_uc021sbs.1_5'Flank	NM_003836	NP_003827	P80370	DLK1_HUMAN	Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA.	158	EGF-like 4.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				TCCTGCCTGTGCCCCCCTGGC	0.637													-	101200555	C	-	101200555	7	5	8	1	0	1	0	1	0	0	0	0	4564	747	26	0	492	0	DLK1	14	101200555	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	649428	101200555	6148985	1239	8261											
DYNC1H1	1778	broad.mit.edu	37	chr14	102471206	102471206	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccaaactgcttgctgaGtctgttacggaagttgagat	12	8	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:102471206G>A	uc001yks.2	+	25	5321	c.5157G>A	c.(5155-5157)GAG>GAA	p.E1719E		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1719	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TGCTTGCTGAGTCTGTTACGG	0.393													A	102471206	G	A	102471206	2	1	8	1	0	0	0	0	0	0	0	1	4841	1020	36	4		4	DYNC1H1	14	102471206	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1270651	102471206	4878334	1240	8262											
DYNC1H1	1778	broad.mit.edu	37	chr14	102494049	102494049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctgatgctggactcgcacGaggagctctacaagtggttc	13	11	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:102494049G>A	uc001yks.2	+	47	9306	c.9142G>A	c.(9142-9144)GAG>AAG	p.E3048K		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3048	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						GGACTCGCACGAGGAGCTCTA	0.577													A	102494049	G	A	102494049	3	1	8	1	0	0	0	0	1	0	0	0	4841	1059	37	1	9328	1	DYNC1H1	14	102494049	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	22843	102494049	4855491	1241	8263											
TECPR2	9895	broad.mit.edu	37	chr14	102843129	102843129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatctcctcaatgccattcCgacaaagatccagaagggtt	7	12	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:102843129C>T	uc001ylw.1	+	2	219	c.71C>T	c.(70-72)CCG>CTG	p.P24L	TECPR2_uc010txw.1_Missense_Mutation_p.P24L|TECPR2_uc010awl.2_Missense_Mutation_p.P24L|TECPR2_uc010txx.1_Nonsense_Mutation_p.R4*	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	24							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						AATGCCATTCCGACAAAGATC	0.537													T	102843129	C	T	102843129	3	4	8	1	0	0	0	0	1	0	0	0	15741	652	23	1	73	1	TECPR2	14	102843129	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	349080	102843129	4506411	1242	8264											
EIF5	1983	broad.mit.edu	37	chr14	103806054	103806054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcaatgcatcaagctcagCttatctccaagattccacat	5	12	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:103806054C>T	uc001ymq.2	+	10	1507	c.985C>T	c.(985-987)CTT>TTT	p.L329F	EIF5_uc001ymr.2_Missense_Mutation_p.L329F|EIF5_uc001yms.2_Missense_Mutation_p.L329F|EIF5_uc001ymt.2_Missense_Mutation_p.L329F|EIF5_uc001ymu.2_Missense_Mutation_p.L329F	NM_001969	NP_001960	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	329	W2.				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			pancreas(1)|breast(1)|skin(1)	3		Melanoma(154;0.155)	Epithelial(46;0.182)			TCAAGCTCAGCTTATCTCCAA	0.433													T	103806054	C	T	103806054	3	4	8	1	0	0	0	0	1	0	0	0	5040	797	28	2	1015	2	EIF5	14	103806054	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	962925	103806054	3543486	1243	8265											
AHNAK2	113146	broad.mit.edu	37	chr14	105409290	105409290	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatggaggggaggctcacGtcggctttcgccttcagctc	14	12	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:105409290G>A	uc010axc.1	-	7	12618	c.12498C>T	c.(12496-12498)GAC>GAT	p.D4166D	AHNAK2_uc001ypx.2_Silent_p.D4066D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4166						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)			GGAGGCTCACGTCGGCTTTCG	0.607													A	105409290	G	A	105409290	2	1	8	1	0	0	0	0	0	0	0	1	415	1136	40	1		1	AHNAK2	14	105409290	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1603236	105409290	1940250	1244	8266											
BRF1	2972	broad.mit.edu	37	chr14	105693010	105693010	+	Frame_Shift_Del	DEL	G	G	-													ctctgcccagctgtgtacgaGggggggtcgcactcctcctc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:105693009_105693009AG>A	uc001yqp.2	-	7	1240	c.877_877CT>T	c.(877-879)tcgfs	p.S293fs	BRF1_uc010tyo.1_Frame_Shift_Del_p.S178fs|BRF1_uc010typ.1_Frame_Shift_Del_p.S178fs|BRF1_uc001yql.2_Frame_Shift_Del_p.S89fs|BRF1_uc001yqo.2_Frame_Shift_Del_p.S55fs|BRF1_uc010axg.1_Frame_Shift_Del_p.S266fs|BRF1_uc001yqn.2_Non-coding_Transcript|BRF1_uc010axh.1_Non-coding_Transcript|BRF1_uc010axj.1_Non-coding_Transcript	NM_001519	NP_663718	Q92994	TF3B_HUMAN	Homo sapiens BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) (BRF1), transcript variant 1, mRNA.	293					positive regulation of transcription, DNA-dependent|rRNA transcription|tRNA transcription|transcription initiation from RNA polymerase III promoter	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	p.S293fs*11(1)		NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GCTGTGTACGAGGGGGGGTCG	0.582													-	105693010	G	-	105693010	7	5	8	1	0	1	0	1	0	0	0	0	1510	987	35	0	1201	0	BRF1	14	105693010	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	283720	105693010	1656530	1245	8267											
CYFIP1	23191	broad.mit.edu	37	chr15	22955256	22955256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacataaaagtaccacgccgCgccgtgggaccctccagcac	10	16	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:22955256C>T	uc001yus.2	+	15	1754	c.1650C>T	c.(1648-1650)CGC>CGT	p.R550R	CYFIP1_uc001yut.2_Silent_p.R550R|CYFIP1_uc010aya.1_Silent_p.R578R|CYFIP1_uc001yuu.2_5'Flank	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	550					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TACCACGCCGCGCCGTGGGAC	0.667													T	22955256	C	T	22955256	2	4	8	1	0	0	0	0	0	0	0	1	4137	755	27	1		1	CYFIP1	15	22955256	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08		22955256	79576136	1246	8268											
MKRN3	7681	broad.mit.edu	37	chr15	23811639	23811639	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagaggaagcagatggctgTgggcagtgggttgcggtttt	19	4	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:23811639T>C	uc001ywh.3	+	1	1186	c.710T>C	c.(709-711)GTG>GCG	p.V237A	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.V237A	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	237						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CAGATGGCTGTGGGCAGTGGG	0.567													C	23811639	T	C	23811639	3	2	8	1	0	0	0	0	1	0	0	0	9608	1696	59	3	712	3	MKRN3	15	23811639	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	856383	23811639	78719753	1247	8269											
MAGEL2	54551	broad.mit.edu	37	chr15	23889460	23889460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagagaccgtttgtctcccGgacatccaaccctaacttga	7	13	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:23889460G>A	uc001ywj.3	-	1	1716	c.1621C>T	c.(1621-1623)CGG>TGG	p.R541W		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TTTGTCTCCCGGACATCCAAC	0.463													A	23889460	G	A	23889460	3	1	8	1	0	0	0	0	1	0	0	0	9189	1115	39	1	323	1	MAGEL2	15	23889460	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	77821	23889460	78641932	1248	8270											
SNRPN	6638	broad.mit.edu	37	chr15	25222053	25222053	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcgggtaccacttgctggAgctgctggaggccctggggt	17	11	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:25222053A>G	uc001ywp.1	+	10	1187	c.297A>G	c.(295-297)GGA>GGG	p.G99G	SNRPN_uc001ywq.1_Silent_p.G99G|SNRPN_uc001ywr.1_Silent_p.G99G|SNRPN_uc001yws.1_Silent_p.G99G|SNRPN_uc001ywt.1_Silent_p.G99G|SNRPN_uc001ywv.1_Silent_p.G102G|SNRPN_uc001yww.1_Silent_p.G99G|SNRPN_uc001ywx.1_Silent_p.G99G|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	NM_022807	NP_073718	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	99					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CACTTGCTGGAGCTGCTGGAG	0.512									Prader-Willi_syndrome				G	25222053	A	G	25222053	2	3	8	1	0	0	0	0	0	0	0	1	14870	291	11	3		3	SNRPN	15	25222053	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1332593	25222053	77309339	1249	8271											
HERC2	8924	broad.mit.edu	37	chr15	28357109	28357109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttgcaggaatacctggGcagcttcagcaagaagaaac	11	10	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:28357109G>A	uc001zbj.2	-	93	14411	c.14305C>T	c.(14305-14307)CCC>TCC	p.P4769S	HERC2_uc001zbi.2_Missense_Mutation_p.P458S	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4769	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAATACCTGGGCAGCTTCAGC	0.498													A	28357109	G	A	28357109	3	1	8	1	0	0	0	0	1	0	0	0	7058	1203	42	2	203	2	HERC2	15	28357109	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3135056	28357109	74174283	1250	8272											
HERC2	8924	broad.mit.edu	37	chr15	28366563	28366563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgcttgtactactttccGgaaagccgcctcctaaaaca	7	12	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:28366563G>A	uc001zbj.2	-	86	13307	c.13201C>T	c.(13201-13203)CGG>TGG	p.R4401W		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4401					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACTACTTTCCGGAAAGCCGCC	0.438													A	28366563	G	A	28366563	3	1	8	1	0	0	0	0	1	0	0	0	7058	1115	39	1	1335	1	HERC2	15	28366563	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	9454	28366563	74164829	1251	8273											
HERC2	8924	broad.mit.edu	37	chr15	28538035	28538035	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaattcacaagattaccTggttgcttgccccataccca	5	14	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:28538035T>C	uc001zbj.2	-	4	427	c.321A>G	c.(319-321)CCA>CCG	p.P107P	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	107					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAAGATTACCTGGTTGCTTGC	0.378													C	28538035	T	C	28538035	2	2	8	1	0	0	0	0	0	0	0	1	7058	1594	55	3		3	HERC2	15	28538035	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	171472	28538035	73993357	1252	8274											
FMN1	342184	broad.mit.edu	37	chr15	33192305	33192305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagctaaaatatccttcaCgctcttcacgtgcagcaagt	8	11	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:33192305C>T	uc001zhf.3	-	10	2860	c.2860G>A	c.(2860-2862)GTG>ATG	p.V954M		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	1177	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		ATATCCTTCACGCTCTTCACG	0.433													T	33192305	C	T	33192305	3	4	8	1	0	0	0	0	1	0	0	0	5949	536	19	1	762	1	FMN1	15	33192305	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	4654270	33192305	69339087	1253	8275											
AVEN	57099	broad.mit.edu	37	chr15	34159952	34159953	+	Frame_Shift_Ins	INS	-	-	C													atttcagctcaaagatgggcINSccccttcctccaggccccaa							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:34159951_34159952G>GC	uc001zhj.3	-	4	773_774	c.717_718C>GC	c.(715-720)gggcccfs	p.G239fs		NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN	Homo sapiens apoptosis, caspase activation inhibitor (AVEN), mRNA.	239					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		TCAAAGATGGGCCCCCTTCCTC	0.545													C	34159953	-	C	34159952	7	5	8	1	0	1	1	0	0	0	0	0	1226	726	26	0	379	0	AVEN	15	34159952	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	967647	34159952	68371440	1254	8276											
PGBD4	161779	broad.mit.edu	37	chr15	34396276	34396276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttgctccgatgatgtcaCacctcttcgtctgtctggaa	8	13	4	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:34396276C>T	uc001zho.2	+	1	2003	c.1544C>T	c.(1543-1545)ACA>ATA	p.T515I	C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	515											0		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		GATGATGTCACACCTCTTCGT	0.483													T	34396276	C	T	34396276	3	4	8	1	0	0	0	0	1	0	0	0	11783	478	17	4	1546	4	PGBD4	15	34396276	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	236324	34396276	68135116	1255	8277											
SPRED1	161742	broad.mit.edu	37	chr15	38614463	38614463	+	Frame_Shift_Del	DEL	A	A	-													tggttttggaatgtatgcttAaaaaagacctcatttataat							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:38614462_38614462TA>T	uc001zka.4	+	2	563	c.228_228TA>T	c.(226-228)cttfs	p.L76fs		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 1 (SPRED1), mRNA.	76	WH1.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AATGTATGCTTAAAAAAGACC	0.338									Legius syndrome				-	38614463	A	-	38614463	7	5	8	1	0	1	0	1	0	0	0	0	15091	363	13	0	239	0	SPRED1	15	38614463	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	4218187	38614463	63916929	1256	8278											
SPRED1	161742	broad.mit.edu	37	chr15	38641674	38641674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcagaagtatggaatacGtacagcggcaaatatccaag	11	7	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:38641674G>A	uc001zka.3	+	6	969	c.634G>A	c.(634-636)GTA>ATA	p.V212I		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	212					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TATGGAATACGTACAGCGGCA	0.328									Legius_syndrome				A	38641674	G	A	38641674	3	1	8	1	0	0	0	0	1	0	0	0	15091	1145	40	1	656	1	SPRED1	15	38641674	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	27211	38641674	63889718	1257	8279											
BAHD1	22893	broad.mit.edu	37	chr15	40758302	40758302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtctatgacttccgccaCgggcgcatccttaagaaccc	8	15	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:40758302C>T	uc001zlu.2	+	7	2387	c.2316C>T	c.(2314-2316)CAC>CAT	p.H772H	BAHD1_uc001zlt.2_Silent_p.H771H|BAHD1_uc010bbp.1_Silent_p.H768H|BAHD1_uc001zlv.2_Silent_p.H769H	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	772	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		ACTTCCGCCACGGGCGCATCC	0.632													T	40758302	C	T	40758302	2	4	8	1	0	0	0	0	0	0	0	1	1297	535	19	1		1	BAHD1	15	40758302	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2116628	40758302	61773090	1258	8280											
RAD51	5888	broad.mit.edu	37	chr15	41021004	41021004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcctttatcaagcatcagCcatgatggtagaatctaggt	9	9	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:41021004C>T	uc001zmi.3	+	7	925	c.626C>T	c.(625-627)GCC>GTC	p.A209V	RAD51_uc010bbw.2_Missense_Mutation_p.A209V|RAD51_uc010bbx.2_Missense_Mutation_p.A210V|RAD51_uc001zmk.3_RNA|RAD51_uc001zml.3_Missense_Mutation_p.A210V	NM_002875	NP_002866	Q06609	RAD51_HUMAN	RAD51 homolog protein isoform 1	209	Interaction with PALB2.				DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity				0		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		CAAGCATCAGCCATGATGGTA	0.433								Homologous_recombination					T	41021004	C	T	41021004	3	4	8	1	0	0	0	0	1	0	0	0	12985	739	26	2	773	2	RAD51	15	41021004	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	262702	41021004	61510388	1259	8281											
RPAP1	26015	broad.mit.edu	37	chr15	41820101	41820101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccgaagagcacggatgGcggttgcaatgaccccatcc	13	13	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:41820101G>A	uc001zod.2	-	11	1509	c.1385C>T	c.(1384-1386)GCC>GTC	p.A462V		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	462						nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGCACGGATGGCGGTTGCAAT	0.577													A	41820101	G	A	41820101	3	1	8	1	0	0	0	0	1	0	0	0	13541	1203	42	2	2856	2	RPAP1	15	41820101	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	799097	41820101	60711291	1260	8282											
MGA	23269	broad.mit.edu	37	chr15	42005395	42005396	+	Frame_Shift_Ins	INS	-	-	C													acaatcataaggaaacgagcINSccctccctgcaacaatgact							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:42005394_42005395G>GC	uc010ucy.2	+	8	3311_3312	c.3130_3131G>GC	c.(3130-3132)gccfs	p.A1044fs	MGA_uc001zog.1_Frame_Shift_Ins_p.A1044fs|MGA_uc010ucz.2_Frame_Shift_Ins_p.A1044fs	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1044						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AAGGAAACGAGCCCCTCCCTGC	0.49													C	42005396	-	C	42005395	7	5	8	1	0	1	1	0	0	0	0	0	9540	739	26	0	3161	0	MGA	15	42005395	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	185294	42005395	60525997	1261	8283											
ZFP106	64397	broad.mit.edu	37	chr15	42743354	42743354	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctgagaagggtaaggcgtCcagcgacgaggcttttccct	13	10	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:42743354C>T	uc001zpw.2	-	2	1382	c.1047G>A	c.(1045-1047)TGG>TGA	p.W349*	ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Nonsense_Mutation_p.W132*|ZFP106_uc001zpy.1_Nonsense_Mutation_p.W372*	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	349						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		GGTAAGGCGTCCAGCGACGAG	0.453													T	42743354	C	T	42743354	4	4	8	1	0	0	0	0	0	1	0	0	17634	856	30	4	4676	4	ZFP106	15	42743354	Nonsense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	737959	42743354	59788038	1262	8284											
TGM5	9333	broad.mit.edu	37	chr15	43533132	43533132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatcaggtttccatctgtatCgtggccagagtcgaagttgg	13	8	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:43533132C>T	uc001zrd.1	-	7	927	c.919G>A	c.(919-921)GAT>AAT	p.D307N	TGM5_uc001zrc.1_5'Flank|TGM5_uc001zre.1_Missense_Mutation_p.D225N	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	307					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CCATCTGTATCGTGGCCAGAG	0.453													T	43533132	C	T	43533132	3	4	8	1	0	0	0	0	1	0	0	0	15830	884	31	1	1271	1	TGM5	15	43533132	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	789778	43533132	58998260	1263	8285											
TUBGCP4	27229	broad.mit.edu	37	chr15	43677988	43677988	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtactctttccttgactaGcgcctgattgaggaagagaa	11	8	1	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:43677988G>A	uc001zro.2	+	8	964	c.724_splice	c.e8-1	p.R242_splice	TUBGCP4_uc001zrn.2_Splice_Site_p.R242_splice|TUBGCP4_uc010bdh.2_Splice_Site	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4						G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			ovary(3)	3		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TCCTTGACTAGCGCCTGATTG	0.428													A	43677988	G	A	43677988	5	1	8	1	0	0	0	0	0	0	1	0	16765	985	34	2	753	2	TUBGCP4	15	43677988	Splice_Site	SNP	G	TCGA-BR-4201-01A-01D-1126-08	144856	43677988	58853404	1264	8286											
TP53BP1	7158	broad.mit.edu	37	chr15	43707815	43707815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttactgtggcagacttgCgacctcgcttggcaggggac	14	10	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:43707815C>T	uc001zrs.2	-	23	5199	c.5051G>A	c.(5050-5052)CGC>CAC	p.R1684H	TP53BP1_uc010udp.1_Missense_Mutation_p.R1684H|TP53BP1_uc001zrq.3_Missense_Mutation_p.R1689H|TP53BP1_uc001zrr.3_Missense_Mutation_p.R1689H|TP53BP1_uc010udq.1_Missense_Mutation_p.R1689H|TP53BP1_uc001zrp.2_Missense_Mutation_p.R101H	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1684					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGCAGACTTGCGACCTCGCTT	0.498								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					T	43707815	C	T	43707815	3	4	8	1	0	0	0	0	1	0	0	0	16380	768	27	1	891	1	TP53BP1	15	43707815	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	29827	43707815	58823577	1265	8287											
TP53BP1	7158	broad.mit.edu	37	chr15	43748429	43748448	+	Frame_Shift_Del	DEL	CCCATGACTGGGAATCTGAG	CCCATGACTGGGAATCTGAG	-													tatttctggagcaatatcctCccatgactgggaatctgagc					rs150010105	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:43748428_43748447TCCCATGACTGGGAATCTGAG>T	uc001zrs.3	-	11	2492_2511	c.2344_2363CTCAGATTCCCAGTCATGGGA>A	c.(2344-2364)tcagattcccagtcatgggagfs	p.S782fs	TP53BP1_uc010udp.2_Frame_Shift_Del_p.S782fs|TP53BP1_uc001zrq.4_Frame_Shift_Del_p.S787fs|TP53BP1_uc001zrr.4_Frame_Shift_Del_p.S787fs|TP53BP1_uc010udq.1_Frame_Shift_Del_p.S787fs	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	782					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AGCAATATCCTCCCATGACTGGGAATCTGAGCACTTCTCC	0.441								Other conserved DNA damage response genes					-	43748448	CCCATGACTGGGAATCTGAG	-	43748429	7	5	8	1	0	1	0	1	0	0	0	0	16380	864	30	0	3624	0	TP53BP1	15	43748429	Frame_Shift_Del	DEL	CCCATGACTGGGAATCTGAG	TCGA-BR-4201-01A-01D-1126-08	40614	43748429	58782963	1266	8288											
SPG11	80208	broad.mit.edu	37	chr15	44951445	44951445	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgacacatttgttgatgaAcagtaatgatgtgttattgt	10	3	0	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:44951445A>G	uc001ztx.2	-	3	530	c.499T>C	c.(499-501)TTC>CTC	p.F167L	SPG11_uc010ueh.1_Missense_Mutation_p.F167L|SPG11_uc010uei.1_Missense_Mutation_p.F167L|SPG11_uc001zua.1_Missense_Mutation_p.F167L	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	167	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTGTTGATGAACAGTAATGAT	0.348													G	44951445	A	G	44951445	3	3	8	1	0	0	0	0	1	0	0	0	15040	43	2	3	6984	3	SPG11	15	44951445	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1203016	44951445	57579947	1267	8289											
DUOX2	50506	broad.mit.edu	37	chr15	45387642	45387642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggatgctcaccttcttaCacagcatttggctgcccaag	10	12	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:45387642C>T	uc010bea.2	-	31	4435	c.4232G>A	c.(4231-4233)TGT>TAT	p.C1411Y	DUOX2_uc001zun.2_Missense_Mutation_p.C1411Y	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1411	Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CACCTTCTTACACAGCATTTG	0.552													T	45387642	C	T	45387642	3	4	8	1	0	0	0	0	1	0	0	0	4801	478	17	4	430	4	DUOX2	15	45387642	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	436197	45387642	57143750	1268	8290											
SLC28A2	9153	broad.mit.edu	37	chr15	45556197	45556197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcatccttatcctctttGcctgctccaaacaccacagc	4	16	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:45556197G>A	uc001zva.2	+	6	630	c.565G>A	c.(565-567)GCC>ACC	p.A189T		NM_004212	NP_004203	O43868	S28A2_HUMAN	solute carrier family 28 (sodium-coupled	189	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			ovary(4)	4		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TATCCTCTTTGCCTGCTCCAA	0.493													A	45556197	G	A	45556197	3	1	8	1	0	0	0	0	1	0	0	0	14532	1319	46	2	583	2	SLC28A2	15	45556197	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	168555	45556197	56975195	1269	8291											
SHC4	399694	broad.mit.edu	37	chr15	49148280	49148282	+	In_Frame_Del	DEL	TCT	TCT	-													tttcattgtaatattcatgaTcttctctctcctcggcatgg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:49148279_49148281ATCT>A	uc001zxb.1	-	7	1540_1542	c.1111_1113AGAT>T	c.(1111-1113)gat>T	p.D371del	SHC4_uc010uey.1_In_Frame_Del_p.D128del|SHC4_uc010uez.1_In_Frame_Del_p.D85del	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) family, member 4 (SHC4), mRNA.	371	CH1.				intracellular signal transduction	cell junction|postsynaptic membrane		p.E370delE(2)		breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		AATATTCATGATCTTCTCTCTCC	0.448													-	49148282	TCT	-	49148280	7	5	8	1	0	1	0	1	0	0	0	0	14273	1435	50	0	800	0	SHC4	15	49148280	In_Frame_Del	DEL	TCT	TCGA-BR-4201-01A-01D-1126-08	3592083	49148280	53383112	1270	8292											
HDC	3067	broad.mit.edu	37	chr15	50534934	50534934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactgacagactgaagggaCgttccacaggcccaggctct	11	14	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:50534934C>T	uc001zxz.2	-	12	1618	c.1512G>A	c.(1510-1512)ACG>ACA	p.T504T	HDC_uc001zxy.2_Silent_p.T247T|HDC_uc010uff.1_Silent_p.T471T	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	504					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ACTGAAGGGACGTTCCACAGG	0.587													T	50534934	C	T	50534934	2	4	8	1	0	0	0	0	0	0	0	1	7015	523	19	1		1	HDC	15	50534934	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1386654	50534934	51996458	1271	8293											
TRPM7	54822	broad.mit.edu	37	chr15	50878623	50878623	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggaatggaagttctgtgAcagtcagtaaatccagcaag	11	7	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:50878623A>G	uc001zyt.3	-	28	4716	c.4452T>C	c.(4450-4452)TGT>TGC	p.C1484C	TRPM7_uc010bew.1_Silent_p.C1484C	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1484	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AAGTTCTGTGACAGTCAGTAA	0.303													G	50878623	A	G	50878623	2	3	8	1	0	0	0	0	0	0	0	1	16588	273	10	3		3	TRPM7	15	50878623	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	343689	50878623	51652769	1272	8294											
VPS13C	54832	broad.mit.edu	37	chr15	62147068	62147068	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgctctttaaattgtttAcctctgctgtggcggtgtcc	10	10	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:62147068A>G	uc002agz.2	-	84	11234	c.11160_splice	c.e84+1	p.E3720_splice	VPS13C_uc002aha.2_Splice_Site_p.E3677_splice	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A						protein localization					ovary(2)	2						TAAATTGTTTACCTCTGCTGT	0.373													G	62147068	A	G	62147068	5	3	8	1	0	0	0	0	0	0	1	0	17188	405	14	3	107	3	VPS13C	15	62147068	Splice_Site	SNP	A	TCGA-BR-4201-01A-01D-1126-08	11268445	62147068	40384324	1273	8295											
TLN2	83660	broad.mit.edu	37	chr15	63063176	63063176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaaaggtgacacaactggCaagctattttgagcccttga	10	8	0	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:63063176C>T	uc002alb.3	+	39	5210	c.5210C>T	c.(5209-5211)GCA>GTA	p.A1737V	TLN2_uc002alc.3_Missense_Mutation_p.A130V|TLN2_uc002ald.2_Missense_Mutation_p.A130V	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1737					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						ACACAACTGGCAAGCTATTTT	0.493													T	63063176	C	T	63063176	3	4	8	1	0	0	0	0	1	0	0	0	15945	710	25	2	5364	2	TLN2	15	63063176	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	916108	63063176	39468216	1274	8296											
USP3	9960	broad.mit.edu	37	chr15	63824853	63824853	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctttttattagtgtgccgGtccaacaaaagcccttgggt	9	9	1	0	rs148908419		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:63824853G>A	uc002amf.2	+	2	228	c.99G>A	c.(97-99)CGG>CGA	p.R33R	USP3_uc010uii.1_RNA|USP3_uc002amg.2_5'UTR|USP3_uc002amh.2_Silent_p.R11R|USP3_uc010uij.1_Silent_p.R33R|USP3_uc010uik.1_Intron|USP3_uc010bgs.2_Silent_p.R16R	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN	ubiquitin thiolesterase 3	33	UBP-type.				DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(80;0.0187)		TAGTGTGCCGGTCCAACAAAA	0.358													A	63824853	G	A	63824853	2	1	8	1	0	0	0	0	0	0	0	1	17057	1248	44	4		4	USP3	15	63824853	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	761677	63824853	38706539	1275	8297											
USP3	9960	broad.mit.edu	37	chr15	63881145	63881145	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccttgttctgtagccTgagaacagtggcccggagag	12	10	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:63881145T>C	uc002amf.2	+	14	1461	c.1332T>C	c.(1330-1332)CCT>CCC	p.P444P	USP3_uc002amg.2_Silent_p.P359P|USP3_uc002amh.2_Silent_p.P422P|USP3_uc010uij.1_Silent_p.P400P|USP3_uc010uik.1_Silent_p.P195P|USP3_uc010bgs.2_Silent_p.P427P|USP3_uc002ami.2_Silent_p.P275P|uc002amj.2_RNA|uc002amk.2_RNA|uc002aml.2_RNA	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN	ubiquitin thiolesterase 3	444					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(80;0.0187)		TTCTGTAGCCTGAGAACAGTG	0.527													C	63881145	T	C	63881145	2	2	8	1	0	0	0	0	0	0	0	1	17057	1567	55	3		3	USP3	15	63881145	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	56292	63881145	38650247	1276	8298											
FBXL22	283807	broad.mit.edu	37	chr15	63889654	63889656	+	In_Frame_Del	DEL	CTC	CTC	-													gagtgcctgctgcacctcttCtccttcctagacaaggacag					rs141944790	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:63889653_63889655TCTC>T	uc002amn.3	+	0	102_104	c.44_46TCTC>T	c.(43-48)ttctcc>tTcc	p.S16del	LOC100130855_uc002amk.3_Intron|LOC100130855_uc002amj.3_Intron|FBXL22_uc002amm.2_In_Frame_Del_p.S16del	NM_203373	NP_976307	Q6P050	FXL22_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 22 (FBXL22), mRNA.	16	F-box.									lung(4)	4						CTGCACCTCTTCTCCTTCCTAGA	0.626													-	63889656	CTC	-	63889654	7	5	8	1	0	1	0	1	0	0	0	0	5719	912	32	0	47	0	FBXL22	15	63889654	In_Frame_Del	DEL	CTC	TCGA-BR-4201-01A-01D-1126-08	8509	63889654	38641738	1277	8299											
HERC1	8925	broad.mit.edu	37	chr15	63904654	63904654	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcaagacttccacagagatCtcgggcatcccacacaccat	6	15	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:63904654C>A	uc002amp.2	-	77	14344	c.14196G>T	c.(14194-14196)GAG>GAT	p.E4732D	HERC1_uc002amo.2_5'Flank	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	4732	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						CCACAGAGATCTCGGGCATCC	0.562													A	63904654	C	A	63904654	3	1	8	1	0	0	0	0	1	0	0	0	7057	912	32	5	397	5	HERC1	15	63904654	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	15000	63904654	38626738	1278	8300											
HERC1	8925	broad.mit.edu	37	chr15	64005567	64005567	+	Frame_Shift_Del	DEL	C	C	-													cccacctggtcataagtccaCccccttcagaggcacttgtt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:64005566_64005566AC>A	uc002amp.3	-	22	4597	c.4449_4449GT>T	c.(4447-4449)ggtfs	p.G1483fs	HERC1_uc010uil.1_Frame_Shift_Del_p.G467fs	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	1483					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCATAAGTCCACCCCCTTCAG	0.433													-	64005567	C	-	64005567	7	5	8	1	0	1	0	1	0	0	0	0	7057	507	18	0	10361	0	HERC1	15	64005567	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	100913	64005567	38525825	1279	8301											
HERC1	8925	broad.mit.edu	37	chr15	64067377	64067377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagtgcttgaccgggggCgttcactaacagaatggaca	12	10	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:64067377C>T	uc002amp.2	-	2	594	c.446G>A	c.(445-447)CGC>CAC	p.R149H	HERC1_uc010uil.1_Missense_Mutation_p.R149H|HERC1_uc010bgt.1_Missense_Mutation_p.R149H|HERC1_uc002amq.1_Missense_Mutation_p.R149H	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	149					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TGACCGGGGGCGTTCACTAAC	0.453													T	64067377	C	T	64067377	3	4	8	1	0	0	0	0	1	0	0	0	7057	768	27	1	14447	1	HERC1	15	64067377	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	61810	64067377	38464015	1280	8302											
ITGA11	22801	broad.mit.edu	37	chr15	68661610	68661610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattggtttccagtggggcGcccacgaccagcctgggaag	14	13	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:68661610G>A	uc002ari.2	-	3	264	c.177C>T	c.(175-177)GGC>GGT	p.G59G	ITGA11_uc010bib.2_Silent_p.G59G	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	59	FG-GAP 1.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	CCAGTGGGGCGCCCACGACCA	0.572													A	68661610	G	A	68661610	2	1	8	1	0	0	0	0	0	0	0	1	7874	1074	38	1		1	ITGA11	15	68661610	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4594233	68661610	33869782	1281	8303											
ODF3L1	161753	broad.mit.edu	37	chr15	76019571	76019571	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgctggggcccaacacccCtgtcagccgagctgctccct	10	18	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:76019571C>A	uc002bax.1	+	4	737	c.515C>A	c.(514-516)CCT>CAT	p.P172H		NM_175881	NP_787077	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	172											0						CCCAACACCCCTGTCAGCCGA	0.617													A	76019571	C	A	76019571	3	1	8	1	0	0	0	0	1	0	0	0	10831	681	24	5	529	5	ODF3L1	15	76019571	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	7357961	76019571	26511821	1282	8304											
SCAPER	49855	broad.mit.edu	37	chr15	76726492	76726493	+	Frame_Shift_Ins	INS	-	-	T													ttcatttcctgtgttggtatINSttttggggtagctggctggc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:76726491_76726492A>AT	uc002bby.3	-	24	3297_3298	c.3238_3239T>AT	c.(3238-3240)atafs	p.I1080fs	SCAPER_uc010bkr.3_Frame_Shift_Ins_p.I388fs|SCAPER_uc002bbx.3_Frame_Shift_Ins_p.I834fs|SCAPER_uc002bbz.1_Frame_Shift_Ins_p.I951fs	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	1079						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CTGTGTTGGTATTTTTGGGGTA	0.431													T	76726493	-	T	76726492	7	5	8	1	0	1	1	0	0	0	0	0	13878	1493	52	0	992	0	SCAPER	15	76726492	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	706921	76726492	25804900	1283	8305											
CIB2	10518	broad.mit.edu	37	chr15	78398176	78398176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcctcaatgaccttgtcGcacacaagcaccacctcctc	5	19	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:78398176G>A	uc002bdb.1	-	5	768	c.447C>T	c.(445-447)TGC>TGT	p.C149C	CIB2_uc002bdc.1_Silent_p.C106C|CIB2_uc010ums.1_Silent_p.C149C	NM_006383	NP_006374	O75838	CIB2_HUMAN	DNA-dependent protein kinase catalytic	149	EF-hand 3.						calcium ion binding				0						TGACCTTGTCGCACACAAGCA	0.567													A	78398176	G	A	78398176	2	1	8	1	0	0	0	0	0	0	0	1	3421	1079	38	1		1	CIB2	15	78398176	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1671684	78398176	24133216	1284	8306											
AGPHD1	123688	broad.mit.edu	37	chr15	78807371	78807371	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttacctcccaggaagaccCatcgctgagcttcccgtcag	8	16	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:78807371C>A	uc010unc.1	+	3	512	c.399C>A	c.(397-399)CCC>CCA	p.P133P	AGPHD1_uc002bdt.2_Silent_p.P133P|AGPHD1_uc010ble.2_Silent_p.P133P	NM_001013619	NP_001013641	A2RU49	AGPD1_HUMAN	aminoglycoside phosphotransferase domain	133						cytoplasm	kinase activity				0						CAGGAAGACCCATCGCTGAGC	0.418													A	78807371	C	A	78807371	2	1	8	1	0	0	0	0	0	0	0	1	393	581	21	5		5	AGPHD1	15	78807371	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	409195	78807371	23724021	1285	8307											
ARNT2	9915	broad.mit.edu	37	chr15	80872883	80872883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagtcgtccgccctttcCgggacaggtatgggcatctg	15	11	1	0	rs147344883		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:80872883C>T	uc002bfr.2	+	16	1911	c.1745C>T	c.(1744-1746)CCG>CTG	p.P582L	ARNT2_uc010unm.1_Missense_Mutation_p.P571L|ARNT2_uc002bfs.2_Missense_Mutation_p.P571L	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	582					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.P582Q(1)		central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			CCGCCCTTTCCGGGACAGGTA	0.567													T	80872883	C	T	80872883	3	4	8	1	0	0	0	0	1	0	0	0	966	652	23	1	1807	1	ARNT2	15	80872883	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2065512	80872883	21658509	1286	8308											
IL16	3603	broad.mit.edu	37	chr15	81575086	81575086	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatccgtggcgcacctggaCggacgtctccggtatgtcct	14	13	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:81575086C>T	uc002bgh.3	+	9	1564	c.1188C>T	c.(1186-1188)GAC>GAT	p.D396D	IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Silent_p.D396D|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.D438D|IL16_uc002bgg.2_Silent_p.D396D|IL16_uc002bgi.1_Translation_Start_Site	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	396	PDZ 2.|Interaction with GRIN2A.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						CGCACCTGGACGGACGTCTCC	0.537													T	81575086	C	T	81575086	2	4	8	1	0	0	0	0	0	0	0	1	7633	535	19	1		1	IL16	15	81575086	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	702203	81575086	20956306	1287	8309											
FSD2	123722	broad.mit.edu	37	chr15	83451613	83451613	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatcagttctttgcaagtAtctaggttttctccacagct	6	11	4	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:83451613A>G	uc002bjd.2	-	4	1067	c.900T>C	c.(898-900)GAT>GAC	p.D300D	FSD2_uc010uol.1_Silent_p.D300D|FSD2_uc010uom.1_Silent_p.D300D	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing	300	Potential.									central_nervous_system(1)	1						CTTTGCAAGTATCTAGGTTTT	0.373													G	83451613	A	G	83451613	2	3	8	1	0	0	0	0	0	0	0	1	6071	446	16	3		3	FSD2	15	83451613	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1876527	83451613	19079779	1288	8310											
ZNF592	9640	broad.mit.edu	37	chr15	85327240	85327240	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcagggagcccccagggggCcaggaaaggggacgagagca	18	10	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:85327240C>G	uc002bld.2	+	4	1670	c.1334C>G	c.(1333-1335)GCC>GGC	p.A445G	ZNF592_uc010upb.1_RNA	NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	445					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(2)	6			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCCCAGGGGGCCAGGAAAGGG	0.642													G	85327240	C	G	85327240	3	3	8	1	0	0	0	0	1	0	0	0	18019	739	26	5	1336	5	ZNF592	15	85327240	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1875627	85327240	17204152	1289	8311											
ABHD2	11057	broad.mit.edu	37	chr15	89738497	89738497	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttgtgctgcctctgcatgGgggccacttgggcttctttg	14	10	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:89738497G>T	uc002bnj.2	+	16	2038	c.1121G>T	c.(1120-1122)GGG>GTG	p.G374V	ABHD2_uc002bnk.2_Missense_Mutation_p.G374V	NM_007011	NP_008942	P08910	ABHD2_HUMAN	alpha/beta hydrolase domain containing protein	374						integral to membrane	carboxylesterase activity			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					CCTCTGCATGGGGGCCACTTG	0.557													T	89738497	G	T	89738497	3	4	8	1	0	0	0	0	1	0	0	0	82	1232	43	5	1155	5	ABHD2	15	89738497	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4411257	89738497	12792895	1290	8312											
C15orf42	90381	broad.mit.edu	37	chr15	90167247	90167247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacttcatcgactgcccagCccaggagagagtgtctcact	9	14	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:90167247C>T	uc002boe.2	+	20	3706	c.3706C>T	c.(3706-3708)CCC>TCC	p.P1236S	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1236	Pro-rich.				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GACTGCCCAGCCCAGGAGAGA	0.567													T	90167247	C	T	90167247	3	4	8	1	0	0	0	0	1	0	0	0	1796	739	26	2	3784	2	C15orf42	15	90167247	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	428750	90167247	12364145	1291	8313											
ANPEP	290	broad.mit.edu	37	chr15	90349638	90349639	+	Frame_Shift_Ins	INS	-	-	G													ccaaggtggtggccgaggcgINSgggttggtggtggctgaggc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:90349637_90349638C>CG	uc002bop.4	-	1	469_470	c.177_178G>CG	c.(175-180)cccgccfs	p.P59fs		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	59	Cytosolic Ser/Thr-rich junction.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GTGGCCGAGGCGGGGTTGGTGG	0.614													G	90349639	-	G	90349638	7	5	8	1	0	1	1	0	0	0	0	0	710	1103	39	0	2806	0	ANPEP	15	90349638	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	182391	90349638	12181754	1292	8314											
BLM	641	broad.mit.edu	37	chr15	91295078	91295078	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattcaactgagaaagttccAtgtattgaatttgatgatga	8	5	1	5			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:91295078A>G	uc002bpr.2	+	4	958	c.861A>G	c.(859-861)CCA>CCG	p.P287P	BLM_uc010uqh.1_Silent_p.P287P|BLM_uc010uqi.1_5'UTR|BLM_uc010bnx.2_Silent_p.P287P	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	287					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGAAAGTTCCATGTATTGAAT	0.323			Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				G	91295078	A	G	91295078	2	3	8	1	0	0	0	0	0	0	0	1	1445	204	8	3		3	BLM	15	91295078	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	945440	91295078	11236314	1293	8315											
ADAMTS17	170691	broad.mit.edu	37	chr15	100821558	100821558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagccggatagcgttcctcCgctcccgccagtcccgcgaa	11	17	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:100821558C>T	uc002bvv.1	-	4	744	c.665G>A	c.(664-666)CGG>CAG	p.R222Q	ADAMTS17_uc002bvx.1_5'UTR	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	222					proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AGCGTTCCTCCGCTCCCGCCA	0.617													T	100821558	C	T	100821558	3	4	8	1	0	0	0	0	1	0	0	0	262	652	23	1	2698	1	ADAMTS17	15	100821558	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	9526480	100821558	1709834	1294	8316											
ASB7	140460	broad.mit.edu	37	chr15	101170100	101170100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttacacttatctgcccttAgggatgatgtgctgtgtgca	10	9	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:101170100A>G	uc002bwk.2	+	5	1439	c.670A>G	c.(670-672)AGG>GGG	p.R224G	ASB7_uc002bwj.2_Missense_Mutation_p.R224G	NM_198243	NP_937886	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box-containing protein 7	224	ANK 7.				intracellular signal transduction					skin(1)	1	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			ATCTGCCCTTAGGGATGATGT	0.458													G	101170100	A	G	101170100	3	3	8	1	0	0	0	0	1	0	0	0	1028	411	15	3	676	3	ASB7	15	101170100	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	348542	101170100	1361292	1295	8317											
LRRK1	79705	broad.mit.edu	37	chr15	101528988	101528988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagttccctgtcatcgtgCgcttgcccctgtatgcggcc	11	14	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:101528988C>T	uc002bwr.2	+	5	902	c.583C>T	c.(583-585)CGC>TGC	p.R195C	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bwq.1_Missense_Mutation_p.R195C	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	195	ANK 4.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTCATCGTGCGCTTGCCCCT	0.607													T	101528988	C	T	101528988	3	4	8	1	0	0	0	0	1	0	0	0	9032	768	27	1	597	1	LRRK1	15	101528988	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	358888	101528988	1002404	1296	8318											
RHBDF1	64285	broad.mit.edu	37	chr16	113713	113713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcttcagcttcccgtagcGctggctgcagtgacggatgc	15	12	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:113713G>A	uc002cfl.3	-	7	482	c.334C>T	c.(334-336)CGC>TGC	p.R112C	RHBDF1_uc010uty.1_Missense_Mutation_p.R135C|RHBDF1_uc010utz.1_Missense_Mutation_p.R112C|RHBDF1_uc010bqo.1_RNA	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	112	Cytoplasmic (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TTCCCGTAGCGCTGGCTGCAG	0.647													A	113713	G	A	113713	3	1	8	1	0	0	0	0	1	0	0	0	13319	1087	38	1	2293	1	RHBDF1	16	113713	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08		113713	90241040	1297	8319											
CACNA1H	8912	broad.mit.edu	37	chr16	1250513	1250513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctcgggtgactccaaccCccacaacggtgccatcaact	8	18	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:1250513C>T	uc002cks.2	+	7	1309	c.1061C>T	c.(1060-1062)CCC>CTC	p.P354L	CACNA1H_uc002ckt.2_Missense_Mutation_p.P354L	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	354	Extracellular (Potential).|I.				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GACTCCAACCCCCACAACGGT	0.647													T	1250513	C	T	1250513	3	4	8	1	0	0	0	0	1	0	0	0	2545	623	22	4	1083	4	CACNA1H	16	1250513	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1136800	1250513	89104240	1298	8320											
CACNA1H	8912	broad.mit.edu	37	chr16	1262117	1262117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaggagaagcggctgcggCgcctagagaggaggcgcagg	21	8	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:1262117C>T	uc002cks.2	+	25	4986	c.4738C>T	c.(4738-4740)CGC>TGC	p.R1580C	CACNA1H_uc002ckt.2_Missense_Mutation_p.R1580C|CACNA1H_uc002cku.2_Missense_Mutation_p.R286C|CACNA1H_uc010brj.2_Missense_Mutation_p.R286C|CACNA1H_uc002ckv.2_Missense_Mutation_p.R286C	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1580	Cytoplasmic (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCGGCTGCGGCGCCTAGAGAG	0.711													T	1262117	C	T	1262117	3	4	8	1	0	0	0	0	1	0	0	0	2545	768	27	1	4832	1	CACNA1H	16	1262117	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	11604	1262117	89092636	1299	8321											
EME2	197342	broad.mit.edu	37	chr16	1825707	1825707	+	Frame_Shift_Del	DEL	G	G	-													tgcgtgatgccaaggctgaaGgggggcaggatcacctcaag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:1825706_1825706AG>A	uc002cmq.1	+	5	953	c.953_953AG>A	c.(952-954)aagfs	p.K318fs	MRPS34_uc002cmo.3_5'Flank|MRPS34_uc021taj.1_5'Flank|EME2_uc010brw.1_Intron	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	Homo sapiens essential meiotic endonuclease 1 homolog 2 (S. pombe) (EME2), mRNA.	267					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CCAAGGCTGAAGGGGGGCAGG	0.607								Direct reversal of damage;Homologous recombination					-	1825707	G	-	1825707	7	5	8	1	0	1	0	1	0	0	0	0	5089	991	35	0	976	0	EME2	16	1825707	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	563590	1825707	88529046	1300	8322											
ABCA3	21	broad.mit.edu	37	chr16	2333210	2333210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccgcctcctccggagggCgcagaggatgcccctgagtc	14	15	0	2	rs149871856		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:2333210C>T	uc002cpy.1	-	26	4724	c.4012G>A	c.(4012-4014)GCC>ACC	p.A1338T	ABCA3_uc010bsk.1_Missense_Mutation_p.A1280T	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	1338					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				CTCCGGAGGGCGCAGAGGATG	0.657													T	2333210	C	T	2333210	3	4	8	1	0	0	0	0	1	0	0	0	33	768	27	1	1134	1	ABCA3	16	2333210	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	507503	2333210	88021543	1301	8323											
PRSS27	83886	broad.mit.edu	37	chr16	2764112	2764112	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacccagcagttcatgccCgtctcaaagatcaccgaggg	11	13	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:2764112C>T	uc002crf.2	-	4	853	c.462G>A	c.(460-462)ACG>ACA	p.T154T	PRSS27_uc002cre.2_Silent_p.T118T|PRSS27_uc002crg.2_Silent_p.T52T|PRSS27_uc010bst.1_Silent_p.T52T	NM_031948	NP_114154	Q9BQR3	PRS27_HUMAN	marapsin precursor	154	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						AGTTCATGCCCGTCTCAAAGA	0.622													T	2764112	C	T	2764112	2	4	8	1	0	0	0	0	0	0	0	1	12621	639	23	1		1	PRSS27	16	2764112	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	430902	2764112	87590641	1302	8324											
SRRM2	23524	broad.mit.edu	37	chr16	2812472	2812472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagaagtggcaggtcacGctctagaaccccagctagac	12	12	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:2812472G>A	uc002crk.2	+	11	2492	c.1943G>A	c.(1942-1944)CGC>CAC	p.R648H	SRRM2_uc002crj.1_Missense_Mutation_p.R552H|SRRM2_uc002crl.1_Missense_Mutation_p.R648H|SRRM2_uc010bsu.1_Missense_Mutation_p.R552H	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	648	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GGCAGGTCACGCTCTAGAACC	0.607													A	2812472	G	A	2812472	3	1	8	1	0	0	0	0	1	0	0	0	15168	1087	38	1	1981	1	SRRM2	16	2812472	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	48360	2812472	87542281	1303	8325											
HCFC1R1	54985	broad.mit.edu	37	chr16	3073266	3073266	+	Frame_Shift_Del	DEL	G	G	-													agggctggggagaaggtcatGggggggctgcagtaggggtg					rs147841549	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:3073265_3073265TG>T	uc002csx.1	-	3	383	c.250_250CA>A	c.(250-252)atgfs	p.M84fs	HCFC1R1_uc002csy.1_Frame_Shift_Del_p.M84fs|HCFC1R1_uc002csz.1_Frame_Shift_Del_p.M65fs|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002cta.2_5'Flank	NM_001002018	NP_060355	Q9NWW0	HPIP_HUMAN	Homo sapiens host cell factor C1 regulator 1 (XPO1 dependent) (HCFC1R1), transcript variant 3, mRNA.	84						cytoplasm|nucleus				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						GAGAAGGTCATGGGGGGGCTG	0.617													-	3073266	G	-	3073266	7	5	8	1	0	1	0	1	0	0	0	0	6992	1335	47	0	175	0	HCFC1R1	16	3073266	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	260794	3073266	87281487	1304	8326											
C16orf90	646174	broad.mit.edu	37	chr16	3544554	3544554	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctgtccctgggcaatcGggcttccagaagggctgaac	14	12	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:3544554G>A	uc002cvi.2	-	2	370	c.370C>T	c.(370-372)CGA>TGA	p.R124*		NM_001080524	NP_001073993	A8MZG2	CP090_HUMAN	hypothetical protein LOC646174	114											0						CTGGGCAATCGGGCTTCCAGA	0.672													A	3544554	G	A	3544554	4	1	8	1	0	0	0	0	0	1	0	0	1843	1124	39	1	186	1	C16orf90	16	3544554	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	471288	3544554	86810199	1305	8327											
BTBD12	84464	broad.mit.edu	37	chr16	3632513	3632513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctctgcctgcagctcccGcagctcaaagggctggtaca	11	15	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:3632513G>A	uc002cvp.2	-	15	5962	c.5335C>T	c.(5335-5337)CGG>TGG	p.R1779W		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1779	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						TGCAGCTCCCGCAGCTCAAAG	0.647								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				A	3632513	G	A	3632513	3	1	8	1	0	0	0	0	1	0	0	0	1540	1086	38	1	173	1	BTBD12	16	3632513	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	87959	3632513	86722240	1306	8328											
CREBBP	1387	broad.mit.edu	37	chr16	3900561	3900561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtctggttaaagttagCattcatgcagataccaggtc	12	7	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:3900561C>T	uc002cvv.2	-	2	739	c.535G>A	c.(535-537)GCT>ACT	p.A179T	CREBBP_uc002cvw.2_Missense_Mutation_p.A179T	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	179					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTAAAGTTAGCATTCATGCAG	0.532			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				T	3900561	C	T	3900561	3	4	8	1	0	0	0	0	1	0	0	0	3861	710	25	2	6913	2	CREBBP	16	3900561	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	268048	3900561	86454192	1307	8329											
ADCY9	115	broad.mit.edu	37	chr16	4016953	4016953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcaccgaactattgcacGggttcctctcggaactggag	13	12	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:4016953G>A	uc002cvx.2	-	11	3424	c.2885C>T	c.(2884-2886)CCG>CTG	p.P962L		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	962	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						ACTATTGCACGGGTTCCTCTC	0.597													A	4016953	G	A	4016953	3	1	8	1	0	0	0	0	1	0	0	0	301	1116	39	1	1180	1	ADCY9	16	4016953	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	116392	4016953	86337800	1308	8330											
VASN	114990	broad.mit.edu	37	chr16	4432050	4432050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggccactgaggcccccaGcccgccctccactgccccac	9	24	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:4432050G>A	uc002cwj.1	+	2	1327	c.1172G>A	c.(1171-1173)AGC>AAC	p.S391N	CORO7_uc002cwe.2_Intron|CORO7_uc002cwf.2_Intron|CORO7_uc002cwg.3_Intron|CORO7_uc002cwh.3_Intron|CORO7_uc010uxh.1_Intron|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_Intron|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_Intron	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN	slit-like 2 precursor	391	Extracellular (Potential).					extracellular region|integral to membrane					0						GAGGCCCCCAGCCCGCCCTCC	0.697													A	4432050	G	A	4432050	3	1	8	1	0	0	0	0	1	0	0	0	17124	971	34	2	1174	2	VASN	16	4432050	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	415097	4432050	85922703	1309	8331											
ZNF500	26048	broad.mit.edu	37	chr16	4802777	4802778	+	Frame_Shift_Ins	INS	-	-	GT													cttgtaaggccgctcgcccgINStgtgtgtgcgctggtgcttg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:4802776_4802777C>CGT	uc002cxp.1	-	5	1290_1291	c.1043_1044G>ACG	c.(1042-1044)acgfs	p.T348fs	ZNF500_uc002cxo.1_Frame_Shift_Ins_p.T140fs|ZNF500_uc010uxt.1_Frame_Shift_Ins_p.T348fs	NM_021646	NP_067678	O60304	ZN500_HUMAN	Homo sapiens zinc finger protein 500 (ZNF500), mRNA.	348					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						GCCGCTCGCCCGTGTGTGTGCG	0.614													GT	4802778	-	GT	4802777	7	5	8	1	0	1	1	0	0	0	0	0	17945	1145	40	0	403	0	ZNF500	16	4802777	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	370727	4802777	85551976	1310	8332											
GRIN2A	2903	broad.mit.edu	37	chr16	9857426	9857426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacactaaacaggctgccGtaaaaatttccctccagaag	9	11	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:9857426G>A	uc002czo.3	-	13	4523	c.3975C>T	c.(3973-3975)TAC>TAT	p.Y1325Y	GRIN2A_uc010uym.1_Silent_p.Y1325Y|GRIN2A_uc010uyn.1_Intron|GRIN2A_uc002czr.3_Intron	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1325	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACAGGCTGCCGTAAAAATTTC	0.527													A	9857426	G	A	9857426	2	1	8	1	0	0	0	0	0	0	0	1	6779	1140	40	1		1	GRIN2A	16	9857426	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	5054649	9857426	80497327	1311	8333											
TEKT5	146279	broad.mit.edu	37	chr16	10788514	10788514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaggatggtgggcggccGcagggtactggtgctctcgt	20	9	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:10788514G>A	uc002czz.1	-	1	289	c.217C>T	c.(217-219)CGG>TGG	p.R73W		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	tektin 5	73					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2						GTGGGCGGCCGCAGGGTACTG	0.637													A	10788514	G	A	10788514	3	1	8	1	0	0	0	0	1	0	0	0	15753	1086	38	1	1268	1	TEKT5	16	10788514	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	931088	10788514	79566239	1312	8334											
CIITA	4261	broad.mit.edu	37	chr16	11000846	11000846	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgttctgctcatcctagaCggcttcgaggagctggaagc	13	12	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:11000846C>T	uc002dai.3	+	11	1630	c.1497C>T	c.(1495-1497)GAC>GAT	p.D499D	CIITA_uc002daj.3_Silent_p.D500D|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Silent_p.D499D|CIITA_uc002dah.2_Silent_p.D451D|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	499	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						TCATCCTAGACGGCTTCGAGG	0.647			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								T	11000846	C	T	11000846	2	4	8	1	0	0	0	0	0	0	0	1	3428	535	19	1		1	CIITA	16	11000846	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	212332	11000846	79353907	1313	8335											
CLEC16A	23274	broad.mit.edu	37	chr16	11137920	11137920	+	Frame_Shift_Del	DEL	T	T	-													agtgttcaccttgtacgacaTttttataaggtaattggcag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:11137919_11137919AT>A	uc021tcy.1	+	15	2035	c.1805_1805AT>A	c.(1804-1806)catfs	p.H602fs	CLEC16A_uc002dan.4_Frame_Shift_Del_p.H584fs|CLEC16A_uc002dao.3_Frame_Shift_Del_p.H600fs	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	602								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTTGTACGACATTTTTATAAG	0.433													-	11137920	T	-	11137920	7	5	8	1	0	1	0	1	0	0	0	0	3500	1490	52	0	1864	0	CLEC16A	16	11137920	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	137074	11137920	79216833	1314	8336											
NTAN1	123803	broad.mit.edu	37	chr16	15131990	15131990	+	Frame_Shift_Del	DEL	T	T	-													gtgtgagctggagatgggtgTttttttaaaaacatcaaggt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:15131989_15131989GT>G	uc002ddd.3	-	9	837	c.832_832AC>C	c.(832-834)cacfs	p.H278fs	PDXDC1_uc002ddc.3_Intron|NTAN1_uc010uzo.2_Frame_Shift_Del_p.H173fs	NM_173474	NP_775745	Q96AB6	NTAN1_HUMAN	Homo sapiens N-terminal asparagine amidase (NTAN1), mRNA.	278						cytoplasm		p.K277fs*>34(2)		endometrium(1)|large_intestine(4)|lung(3)	8						GGAGATGGGTGTTTTTTTAAA	0.413													-	15131990	T	-	15131990	7	5	8	1	0	1	0	1	0	0	0	0	10695	1722	60	0	105	0	NTAN1	16	15131990	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	3994070	15131990	75222763	1315	8337											
TMC5	79838	broad.mit.edu	37	chr16	19451526	19451526	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaccaggagcaatccatacTctgtagcctccagaacacgt	8	14	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:19451526T>G	uc002dgc.3	+	3	915	c.166T>G	c.(166-168)TCT>GCT	p.S56A	TMC5_uc010vaq.1_Missense_Mutation_p.S56A|TMC5_uc002dgb.3_Missense_Mutation_p.S56A|TMC5_uc010var.1_Missense_Mutation_p.S56A	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	56	Extracellular (Potential).					integral to membrane				skin(1)	1						CAATCCATACTCTGTAGCCTC	0.488													G	19451526	T	G	19451526	3	3	8	1	0	0	0	0	1	0	0	0	15985	1551	54	5	168	5	TMC5	16	19451526	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	4319536	19451526	70903227	1316	8338											
TMC5	79838	broad.mit.edu	37	chr16	19498632	19498632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggggtcttgtgcaccctgGccatcaccatctggaggtag	13	13	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:19498632G>A	uc002dgc.3	+	17	3306	c.2557G>A	c.(2557-2559)GCC>ACC	p.A853T	TMC5_uc010vaq.1_Missense_Mutation_p.A801T|TMC5_uc002dgb.3_Missense_Mutation_p.A853T|TMC5_uc010var.1_Missense_Mutation_p.A853T|TMC5_uc002dgd.1_Missense_Mutation_p.A607T|TMC5_uc002dge.3_Missense_Mutation_p.A607T|TMC5_uc002dgf.3_Missense_Mutation_p.A536T|TMC5_uc002dgg.3_Missense_Mutation_p.A494T	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	853	Helical; (Potential).					integral to membrane				skin(1)	1						GTGCACCCTGGCCATCACCAT	0.468													A	19498632	G	A	19498632	3	1	8	1	0	0	0	0	1	0	0	0	15985	1203	42	2	2929	2	TMC5	16	19498632	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	47106	19498632	70856121	1317	8339											
GPR139	124274	broad.mit.edu	37	chr16	20043576	20043576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggatccagatgaggacGtgatgcacagaggtgctgat	15	7	0	5			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:20043576G>A	uc002dgu.1	-	2	705	c.543C>T	c.(541-543)CAC>CAT	p.H181H	GPR139_uc010vaw.1_Silent_p.H88H	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	181	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(2)	2						AGATGAGGACGTGATGCACAG	0.493													A	20043576	G	A	20043576	2	1	8	1	0	0	0	0	0	0	0	1	6648	1136	40	1		1	GPR139	16	20043576	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	544944	20043576	70311177	1318	8340											
OTOA	146183	broad.mit.edu	37	chr16	21739665	21739665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctcccccagggcttgggCgactgctctacacggcctca	11	16	3	0	rs145160241		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:21739665C>T	uc002djh.2	+	19	2121	c.2120C>T	c.(2119-2121)GCG>GTG	p.A707V	uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.A628V|OTOA_uc002dji.2_Missense_Mutation_p.A383V|OTOA_uc010vbk.1_Missense_Mutation_p.A355V	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	721					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		AGGGCTTGGGCGACTGCTCTA	0.597													T	21739665	C	T	21739665	3	4	8	1	0	0	0	0	1	0	0	0	11302	768	27	1	2240	1	OTOA	16	21739665	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1696089	21739665	68615088	1319	8341											
VWA3A	146177	broad.mit.edu	37	chr16	22163922	22163922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacactctccaaaattcaCagcctgctgaccaaaggctt	6	14	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:22163922C>T	uc010vbq.1	+	31	3468	c.3372C>T	c.(3370-3372)CAC>CAT	p.H1124H	VWA3A_uc010bxd.2_RNA|VWA3A_uc002dkg.3_Silent_p.H202H|VWA3A_uc010bxe.1_Silent_p.H226H	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1124	VWFA 2.					extracellular region				skin(1)	1				GBM - Glioblastoma multiforme(48;0.0439)		CCAAAATTCACAGCCTGCTGA	0.522													T	22163922	C	T	22163922	2	4	8	1	0	0	0	0	0	0	0	1	17237	477	17	4		4	VWA3A	16	22163922	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	424257	22163922	68190831	1320	8342											
SCNN1B	6338	broad.mit.edu	37	chr16	23382745	23382745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagatgagggcatctacGccatgtcggggacagagacg	15	9	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:23382745G>A	uc002dln.2	+	6	1182	c.1006G>A	c.(1006-1008)GCC>ACC	p.A336T		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	336	Extracellular (By similarity).		A -> P.		excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GGGCATCTACGCCATGTCGGG	0.627													A	23382745	G	A	23382745	3	1	8	1	0	0	0	0	1	0	0	0	13928	1087	38	1	1024	1	SCNN1B	16	23382745	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1218823	23382745	66972008	1321	8343											
GGA2	23062	broad.mit.edu	37	chr16	23494294	23494294	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgccaaccggaacagcgtgGgccgcagcttttcacacctc	10	16	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:23494294G>T	uc002dlq.2	-	9	906	c.830C>A	c.(829-831)CCC>CAC	p.P277H	GGA2_uc010bxo.1_RNA	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	ADP-ribosylation factor binding protein 2	277	GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.0386)		GAACAGCGTGGGCCGCAGCTT	0.577													T	23494294	G	T	23494294	3	4	8	1	0	0	0	0	1	0	0	0	6353	1232	43	5	1047	5	GGA2	16	23494294	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	111549	23494294	66860459	1322	8344											
ARHGAP17	55114	broad.mit.edu	37	chr16	24946893	24946893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgattttggccagatgCtatctgactgttgtttctcc	11	9	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:24946893C>T	uc002dnb.2	-	18	1885	c.1792G>A	c.(1792-1794)GCA>ACA	p.A598T	ARHGAP17_uc002dmy.2_Missense_Mutation_p.A43T|ARHGAP17_uc002dmz.2_Missense_Mutation_p.A122T|ARHGAP17_uc002dna.2_Missense_Mutation_p.A325T|ARHGAP17_uc002dnc.2_Missense_Mutation_p.A520T|ARHGAP17_uc010vcf.1_Missense_Mutation_p.A341T	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	598	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		TGGCCAGATGCTATCTGACTG	0.572													T	24946893	C	T	24946893	3	4	8	1	0	0	0	0	1	0	0	0	867	797	28	2	865	2	ARHGAP17	16	24946893	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1452599	24946893	65407860	1323	8345											
GTF3C1	2975	broad.mit.edu	37	chr16	27481632	27481632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagagaaacgatcaggctgGtccaacttgccggcagcccg	12	12	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:27481632G>A	uc002dov.1	-	31	4651	c.4611C>T	c.(4609-4611)GAC>GAT	p.D1537D	GTF3C1_uc002dou.2_Silent_p.D1537D	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1537						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						GATCAGGCTGGTCCAACTTGC	0.502													A	27481632	G	A	27481632	2	1	8	1	0	0	0	0	0	0	0	1	6872	1252	44	4		4	GTF3C1	16	27481632	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2534739	27481632	62873121	1324	8346											
GTF3C1	2975	broad.mit.edu	37	chr16	27489822	27489822	+	Frame_Shift_Del	DEL	T	T	-													tcctctttcctggtttgatcTttttcatccccaattgccaa							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:27489821_27489821CT>C	uc002dov.2	-	27	4268	c.4228_4228AG>G	c.(4228-4230)gatfs	p.D1410fs	GTF3C1_uc002dou.3_Frame_Shift_Del_p.D1410fs	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1410						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTGGTTTGATCTTTTTCATCC	0.413													-	27489822	T	-	27489822	7	5	8	1	0	1	0	1	0	0	0	0	6872	1606	56	0	2142	0	GTF3C1	16	27489822	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	8190	27489822	62864931	1325	8347											
KIAA0556	23247	broad.mit.edu	37	chr16	27585252	27585252	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaaaggccgagagaagctGgtcctgctcacgagagaaaa	14	9	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:27585252G>A	uc002dow.2	+	2	62	c.38G>A	c.(37-39)TGG>TAG	p.W13*		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	13										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						GAGAGAAGCTGGTCCTGCTCA	0.488													A	27585252	G	A	27585252	4	1	8	1	0	0	0	0	0	1	0	0	8183	1357	47	4	44	4	KIAA0556	16	27585252	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	95430	27585252	62769501	1326	8348											
CORO1A	11151	broad.mit.edu	37	chr16	30199821	30199821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacgtacccccaaagagccGggagctgagggtcaaccggg	14	13	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:30199821G>A	uc002dww.2	+	10	1327	c.1205G>A	c.(1204-1206)CGG>CAG	p.R402Q	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Missense_Mutation_p.R402Q|CORO1A_uc010bzr.2_Intron|CORO1A_uc002dwx.2_Missense_Mutation_p.R296Q|CORO1A_uc002dwy.1_3'UTR|LOC606724_uc002dwz.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	402					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity				0						CCAAAGAGCCGGGAGCTGAGG	0.701													A	30199821	G	A	30199821	3	1	8	1	0	0	0	0	1	0	0	0	3753	1116	39	1	1239	1	CORO1A	16	30199821	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2614569	30199821	60154932	1327	8349											
PRSS36	146547	broad.mit.edu	37	chr16	31154679	31154679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactccagaaagcagctggCaggtgccaagacccagcttt	10	13	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:31154679C>T	uc002ebd.2	-	8	1143	c.1084G>A	c.(1084-1086)GCC>ACC	p.A362T	PRSS36_uc010vff.1_Missense_Mutation_p.A137T|PRSS36_uc010vfg.1_Missense_Mutation_p.A362T|PRSS36_uc010vfh.1_Missense_Mutation_p.A362T	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	protease, serine, 36 precursor	362	Peptidase S1 2.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			ovary(1)	1						AAGCAGCTGGCAGGTGCCAAG	0.637													T	31154679	C	T	31154679	3	4	8	1	0	0	0	0	1	0	0	0	12625	710	25	2	1515	2	PRSS36	16	31154679	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	954858	31154679	59200074	1328	8350											
ITGAX	3687	broad.mit.edu	37	chr16	31371370	31371370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttacatacacggccaccGccatccaaaatgtcgtgtga	9	12	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:31371370G>A	uc002ebu.1	+	7	758	c.691G>A	c.(691-693)GCC>ACC	p.A231T	ITGAX_uc002ebt.2_Missense_Mutation_p.A231T|ITGAX_uc010vfk.1_5'Flank	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	231	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CACGGCCACCGCCATCCAAAA	0.517													A	31371370	G	A	31371370	3	1	8	1	0	0	0	0	1	0	0	0	7889	1087	38	1	717	1	ITGAX	16	31371370	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	216691	31371370	58983383	1329	8351											
ABCC12	94160	broad.mit.edu	37	chr16	48155695	48155695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgaaagatccatgcctgCtgtgaaacgtaggccaaagt	10	10	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:48155695C>T	uc002efc.1	-	11	1990	c.1644G>A	c.(1642-1644)CAG>CAA	p.Q548Q	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Silent_p.Q548Q	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	548	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				TCCATGCCTGCTGTGAAACGT	0.448													T	48155695	C	T	48155695	2	4	8	1	0	0	0	0	0	0	0	1	52	796	28	2		2	ABCC12	16	48155695	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	16784325	48155695	42199058	1330	8352											
TOX3	27324	broad.mit.edu	37	chr16	52473718	52473718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggttaagggtttgggagCgattgacctagggagggatt	17	4	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:52473718C>T	uc002egw.2	-	7	1321	c.1150G>A	c.(1150-1152)GCT>ACT	p.A384T	TOX3_uc010vgt.1_Missense_Mutation_p.A379T|TOX3_uc010vgu.1_Missense_Mutation_p.A384T	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	384					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity				0						GGTTTGGGAGCGATTGACCTA	0.502													T	52473718	C	T	52473718	3	4	8	1	0	0	0	0	1	0	0	0	16376	768	27	1	584	1	TOX3	16	52473718	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	4318023	52473718	37881035	1331	8353											
IRX3	79191	broad.mit.edu	37	chr16	54317634	54317634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgataagaccagggcggcGtccagatggttctggggcct	16	11	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:54317634G>A	uc002eht.1	-	4	1886	c.1470C>T	c.(1468-1470)GAC>GAT	p.D490D		NM_024336	NP_077312	P78415	IRX3_HUMAN	iroquois homeobox 3	490					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CCAGGGCGGCGTCCAGATGGT	0.433													A	54317634	G	A	54317634	2	1	8	1	0	0	0	0	0	0	0	1	7845	1136	40	1		1	IRX3	16	54317634	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1843916	54317634	36037119	1332	8354											
MMP2	4313	broad.mit.edu	37	chr16	55518003	55518003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgccttccaagtctggagCgatgtgaccccactgcggtt	12	13	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:55518003C>T	uc002ehz.3	+	3	767	c.456C>T	c.(454-456)AGC>AGT	p.S152S	MMP2_uc010vhd.1_Silent_p.S76S|MMP2_uc010ccc.2_Silent_p.S102S	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	152	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	AAGTCTGGAGCGATGTGACCC	0.532													T	55518003	C	T	55518003	2	4	8	1	0	0	0	0	0	0	0	1	9658	767	27	1		1	MMP2	16	55518003	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1200369	55518003	34836750	1333	8355											
CDH8	1006	broad.mit.edu	37	chr16	61687601	61687601	+	Frame_Shift_Del	DEL	G	G	-													actgaggtagtcaaaattctGgtctgagtctgatgtggtgg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:61687600_61687600TG>T	uc002eog.2	-	11	3267	c.2312_2312CA>A	c.(2311-2313)cagfs	p.Q771fs		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	771					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GTCAAAATTCTGGTCTGAGTC	0.507													-	61687601	G	-	61687601	7	5	8	1	0	1	0	1	0	0	0	0	3116	1357	47	0	92	0	CDH8	16	61687601	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	6169598	61687601	28667152	1334	8356											
CDH11	1009	broad.mit.edu	37	chr16	64984769	64984769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcaggagagcagtgcccCgttcacgtcgcacccgcaga	13	14	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:64984769C>T	uc002eoi.2	-	12	2229	c.1795G>A	c.(1795-1797)GGG>AGG	p.G599R	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.G599R|CDH11_uc010vin.1_Missense_Mutation_p.G473R	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	599	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGCAGTGCCCCGTTCACGTCG	0.612			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			T	64984769	C	T	64984769	3	4	8	1	0	0	0	0	1	0	0	0	3097	652	23	1	603	1	CDH11	16	64984769	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	3297168	64984769	25369984	1335	8357											
CDH16	1014	broad.mit.edu	37	chr16	66947046	66947046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctcacctggtggactgaGctcagggatgctgactgtgg	15	9	2	2	rs79541908		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:66947046G>A	uc002eql.2	-	9	1115	c.1042C>T	c.(1042-1044)CTC>TTC	p.L348F	CDH16_uc010cdy.2_Missense_Mutation_p.L348F|CDH16_uc002eqm.2_Missense_Mutation_p.L251F	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	348	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GGTGGACTGAGCTCAGGGATG	0.592													A	66947046	G	A	66947046	3	1	8	1	0	0	0	0	1	0	0	0	3101	971	34	2	1487	2	CDH16	16	66947046	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1962277	66947046	23407707	1336	8358											
AGRP	181	broad.mit.edu	37	chr16	67516943	67516943	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttacctctgccaaggcctgAgcctcctgcaacagatcctc	8	16	1	2	rs77812484		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:67516943A>C	uc002etg.1	-	3	501	c.201T>G	c.(199-201)GCT>GCG	p.A67A	ATP6V0D1_uc002ete.1_5'Flank|ATP6V0D1_uc010vjo.1_5'Flank	NM_001138	NP_001129	O00253	AGRP_HUMAN	agouti related protein homolog isoform 1	67					hormone-mediated signaling pathway|neuropeptide signaling pathway|regulation of feeding behavior	extracellular space|Golgi lumen	neuropeptide hormone activity				0		Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16)		CCAAGGCCTGAGCCTCCTGCA	0.607													C	67516943	A	C	67516943	2	2	8	1	0	0	0	0	0	0	0	1	398	291	11	5		5	AGRP	16	67516943	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	569897	67516943	22837810	1337	8359											
ACD	65057	broad.mit.edu	37	chr16	67691889	67691889	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaggggctatgctcacCcagacagagcagggctcctg	14	12	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:67691889C>A	uc002etq.3	-	10	1801	c.1464G>T	c.(1462-1464)TGG>TGT	p.W488C	ACD_uc002etp.3_Missense_Mutation_p.W485C|ACD_uc002etr.3_Missense_Mutation_p.W485C|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	488					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CTATGCTCACCCAGACAGAGC	0.612													A	67691889	C	A	67691889	3	1	8	1	0	0	0	0	1	0	0	0	135	637	22	5	182	5	ACD	16	67691889	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	174946	67691889	22662864	1338	8360											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67860079	67860079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggctgggggcccagagcGctggcagatgctggctgagg	21	9	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:67860079G>A	uc002euj.2	+	10	1401	c.1007G>A	c.(1006-1008)CGC>CAC	p.R336H	TSNAXIP1_uc010cep.2_3'UTR|TSNAXIP1_uc010vjz.1_Missense_Mutation_p.R213H|TSNAXIP1_uc002euf.3_Missense_Mutation_p.R69H|TSNAXIP1_uc010vka.1_Missense_Mutation_p.R390H|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.R321H|TSNAXIP1_uc002eug.3_Missense_Mutation_p.R44H|TSNAXIP1_uc002euh.3_Missense_Mutation_p.R44H|TSNAXIP1_uc002eui.3_Missense_Mutation_p.R44H|TSNAXIP1_uc002euk.2_Missense_Mutation_p.R69H	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	336					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GGCCCAGAGCGCTGGCAGATG	0.647													A	67860079	G	A	67860079	3	1	8	1	0	0	0	0	1	0	0	0	16629	1087	38	1	1037	1	TSNAXIP1	16	67860079	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	168190	67860079	22494674	1339	8361											
DPEP3	64180	broad.mit.edu	37	chr16	68012210	68012210	+	Frame_Shift_Del	DEL	C	C	-													ggtaagtgtcaggtagcgcaCccccagcacatagaaactgc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:68012209_68012209AC>A	uc002evc.4	-	3	816	c.722_722GT>T	c.(721-723)gtgfs	p.V241fs	DPEP3_uc010cex.3_Frame_Shift_Del_p.V241fs	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	Homo sapiens dipeptidase 3 (DPEP3), transcript variant 1, mRNA.	216					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CAGGTAGCGCACCCCCAGCAC	0.567													-	68012210	C	-	68012210	7	5	8	1	0	1	0	1	0	0	0	0	4715	507	18	0	848	0	DPEP3	16	68012210	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	152131	68012210	22342543	1340	8362											
DPEP2	64174	broad.mit.edu	37	chr16	68026860	68026860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaattacgcacccgtccaCgagcgggaagtcccgcatca	10	15	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:68026860C>T	uc010cey.2	-	1	420	c.256G>A	c.(256-258)GTG>ATG	p.V86M	DPEP2_uc002evd.3_Missense_Mutation_p.V86M|DPEP2_uc002eve.2_Missense_Mutation_p.V86M|DPEP2_uc002evf.2_RNA|DPEP2_uc002evg.2_Missense_Mutation_p.V86M	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	dipeptidase 2 precursor	86					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CACCCGTCCACGAGCGGGAAG	0.662													T	68026860	C	T	68026860	3	4	8	1	0	0	0	0	1	0	0	0	4714	536	19	1	1244	1	DPEP2	16	68026860	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	14650	68026860	22327893	1341	8363											
HAS3	3038	broad.mit.edu	37	chr16	69143549	69143549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagctgccctccccgcggcGgggctcggtggcactgtgca	16	15	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:69143549G>A	uc010cfh.2	+	2	475	c.251G>A	c.(250-252)CGG>CAG	p.R84Q	HAS3_uc002ewk.2_Missense_Mutation_p.R84Q|HAS3_uc010vlk.1_Missense_Mutation_p.R84Q|HAS3_uc002ewl.2_Missense_Mutation_p.R84Q	NM_005329	NP_005320	O00219	HAS3_HUMAN	hyaluronan synthase 3 isoform a	84	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TCCCCGCGGCGGGGCTCGGTG	0.662													A	69143549	G	A	69143549	3	1	8	1	0	0	0	0	1	0	0	0	6963	1116	39	1	253	1	HAS3	16	69143549	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1116689	69143549	21211204	1342	8364											
WWP2	11060	broad.mit.edu	37	chr16	69964118	69964118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttgtggaccacaataccCgcaccaccacctttaaggat	6	14	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:69964118C>T	uc002exu.1	+	14	1491	c.1402C>T	c.(1402-1404)CGC>TGC	p.R468C	WWP2_uc002exv.1_Missense_Mutation_p.R468C|WWP2_uc010vlm.1_Missense_Mutation_p.R352C|WWP2_uc010vln.1_Missense_Mutation_p.R86C|WWP2_uc002exw.1_Missense_Mutation_p.R29C|uc002exx.1_5'Flank|MIR140_hsa-mir-140|MI0000456_5'Flank	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	468	WW 4.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			lung(3)|ovary(1)|breast(1)|skin(1)	6						CCACAATACCCGCACCACCAC	0.582											OREG0023910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	69964118	C	T	69964118	3	4	8	1	0	0	0	0	1	0	0	0	17413	652	23	1	1452	1	WWP2	16	69964118	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	820569	69964118	20390635	1343	8365											
COG4	25839	broad.mit.edu	37	chr16	70557297	70557297	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgccgcagagccgttcGtatacagcctccagctcctg	9	17	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:70557297G>A	uc002ezc.2	-	1	161	c.150C>T	c.(148-150)TAC>TAT	p.Y50Y	COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Silent_p.Y50Y|COG4_uc002eze.2_Translation_Start_Site|SF3B3_uc002ezf.2_5'Flank	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	46	Interacts with SCFD1.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				AGAGCCGTTCGTATACAGCCT	0.627													A	70557297	G	A	70557297	2	1	8	1	0	0	0	0	0	0	0	1	3660	1140	40	1		1	COG4	16	70557297	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	593179	70557297	19797456	1344	8366											
ZFHX3	463	broad.mit.edu	37	chr16	72828552	72828552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgtttcttcaagcccacctCgtgtgcaatgtgatccaaca	7	13	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:72828552C>T	uc002fck.2	-	9	8702	c.8029G>A	c.(8029-8031)GAG>AAG	p.E2677K	ZFHX3_uc002fcl.2_Missense_Mutation_p.E1763K	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	2677	Homeobox 3.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				AAGCCCACCTCGTGTGCAATG	0.502													T	72828552	C	T	72828552	3	4	8	1	0	0	0	0	1	0	0	0	17631	893	31	1	3090	1	ZFHX3	16	72828552	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2271255	72828552	17526201	1345	8367											
GLG1	2734	broad.mit.edu	37	chr16	74496466	74496466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggccttagtcaggatacCgtgacagaatttaggaatgt	11	7	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:74496466C>T	uc002fcy.3	-	21	2904	c.2854G>A	c.(2854-2856)GGT>AGT	p.G952S	GLG1_uc002fcx.2_Missense_Mutation_p.G952S|GLG1_uc002fcw.3_Missense_Mutation_p.G941S|GLG1_uc002fcz.3_Missense_Mutation_p.G369S	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	952	Cys-rich GLG1 14.|Extracellular (Potential).					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2						GTCAGGATACCGTGACAGAAT	0.443													T	74496466	C	T	74496466	3	4	8	1	0	0	0	0	1	0	0	0	6436	652	23	1	789	1	GLG1	16	74496466	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1667914	74496466	15858287	1346	8368											
MLKL	197259	broad.mit.edu	37	chr16	74729299	74729299	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaaacaggcatgcgttgCtcaacctgaagtaacagcga	12	9	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:74729299C>T	uc002fdb.2	-	2	798	c.357G>A	c.(355-357)GAG>GAA	p.E119E	MLKL_uc002fdc.2_Silent_p.E119E	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like isoform 1	119							ATP binding|protein binding|protein kinase activity			stomach(2)	2						GCATGCGTTGCTCAACCTGAA	0.512													T	74729299	C	T	74729299	2	4	8	1	0	0	0	0	0	0	0	1	9619	796	28	2		2	MLKL	16	74729299	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	232833	74729299	15625454	1347	8369											
CNTNAP4	85445	broad.mit.edu	37	chr16	76587778	76587778	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagccccttgctaatgcaaTcaaaagtgactctgcagtaa	8	10	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:76587778T>C	uc002feu.1	+	25	4092	c.3707T>C	c.(3706-3708)ATC>ACC	p.I1236T	CNTNAP4_uc002fev.1_Missense_Mutation_p.I1100T|CNTNAP4_uc010chb.1_Missense_Mutation_p.I1163T|CNTNAP4_uc002fex.1_Missense_Mutation_p.I1239T	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	1236	Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						GCTAATGCAATCAAAAGTGAC	0.363													C	76587778	T	C	76587778	3	2	8	1	0	0	0	0	1	0	0	0	3649	1435	50	3	3810	3	CNTNAP4	16	76587778	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	1858479	76587778	13766975	1348	8370											
ADAMTS18	170692	broad.mit.edu	37	chr16	77356319	77356319	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccggacattgcaaaaaaaaAttcaaagttctcagccttgc	7	10	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:77356319A>T	uc002ffc.3	-	14	2496	c.2077T>A	c.(2077-2079)TTT>ATT	p.F693I	ADAMTS18_uc010chc.1_Missense_Mutation_p.F281I|ADAMTS18_uc002ffe.1_Missense_Mutation_p.F389I	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	693	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						GCAAAAAAAAATTCAAAGTTC	0.388													T	77356319	A	T	77356319	3	4	8	1	0	0	0	0	1	0	0	0	263	101	4	5	1628	5	ADAMTS18	16	77356319	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	768541	77356319	12998434	1349	8371											
BCMO1	53630	broad.mit.edu	37	chr16	81320986	81320986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacccctgtttgtgcccgcGccaggtgccaaggatgagga	14	12	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:81320986G>A	uc002fgn.1	+	10	1607	c.1389G>A	c.(1387-1389)GCG>GCA	p.A463A	BCMO1_uc010vnp.1_Silent_p.A394A	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase	463					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity				0						TTGTGCCCGCGCCAGGTGCCA	0.517													A	81320986	G	A	81320986	2	1	8	1	0	0	0	0	0	0	0	1	1384	1074	38	1		1	BCMO1	16	81320986	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3964667	81320986	9033767	1350	8372											
CDH13	1012	broad.mit.edu	37	chr16	83065685	83065685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccatacttcaaggtgaaCagcgatggcggcttagttgc	12	10	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:83065685C>T	uc002fgx.2	+	3	348	c.228C>T	c.(226-228)AAC>AAT	p.N76N	CDH13_uc010chh.2_Silent_p.N76N|CDH13_uc010vns.1_Silent_p.N123N|CDH13_uc010vnt.1_Intron|CDH13_uc010vnu.1_Silent_p.N76N	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	76					adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TCAAGGTGAACAGCGATGGCG	0.512													T	83065685	C	T	83065685	2	4	8	1	0	0	0	0	0	0	0	1	3099	477	17	4		4	CDH13	16	83065685	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1744699	83065685	7289068	1351	8373											
ZC3H18	124245	broad.mit.edu	37	chr16	88694379	88694379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaaaagcggaaaagggattCgtccacacaaccacccaaat	9	11	0	0	rs139646372	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:88694379C>T	uc002fky.2	+	15	2521	c.2321C>T	c.(2320-2322)TCG>TTG	p.S774L	ZC3H18_uc010voz.1_Missense_Mutation_p.S798L|ZC3H18_uc010chw.2_Intron|ZC3H18_uc002fkz.2_Missense_Mutation_p.S44L	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	774						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AAAAGGGATTCGTCCACACAA	0.547													T	88694379	C	T	88694379	3	4	8	1	0	0	0	0	1	0	0	0	17565	893	31	1	2375	1	ZC3H18	16	88694379	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	5628694	88694379	1660374	1352	8374											
APRT	353	broad.mit.edu	37	chr16	88876887	88876887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcctggcagcttcccccGctttcggatgagcacgcagc	14	15	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:88876887G>A	uc002flv.2	-	3	300	c.265C>T	c.(265-267)CGG>TGG	p.R89W	APRT_uc002flw.2_Missense_Mutation_p.R89W	NM_000485	NP_000476	P07741	APT_HUMAN	adenine phosphoribosyltransferase isoform a	89					purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	AGCTTCCCCCGCTTTCGGATG	0.652													A	88876887	G	A	88876887	3	1	8	1	0	0	0	0	1	0	0	0	819	1086	38	1	289	1	APRT	16	88876887	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	182508	88876887	1477866	1353	8375											
SPG7	6687	broad.mit.edu	37	chr16	89614458	89614458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgcgctgcacgcggcgCgggagggacacacttccgtg	17	13	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:89614458C>T	uc002fnj.2	+	12	1621	c.1600C>T	c.(1600-1602)CGG>TGG	p.R534W	SPG7_uc002fnk.1_RNA|SPG7_uc002fnl.2_5'Flank	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	534	Mitochondrial matrix (Potential).				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GCACGCGGCGCGGGAGGGACA	0.637													T	89614458	C	T	89614458	3	4	8	1	0	0	0	0	1	0	0	0	15043	759	27	1	1796	1	SPG7	16	89614458	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	737571	89614458	740295	1354	8376											
CENPBD1	92806	broad.mit.edu	37	chr16	90038269	90038269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttgaggtcaagggtaatcGctttccgttcccttttggca	10	9	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:90038269G>A	uc002fpr.2	-	1	674	c.62C>T	c.(61-63)GCG>GTG	p.A21V	AFG3L1_uc002fps.1_5'Flank|AFG3L1_uc002fpt.1_5'Flank|AFG3L1_uc002fpu.1_5'Flank|AFG3L1_uc002fpv.1_5'Flank|AFG3L1_uc002fpw.1_5'Flank|AFG3L1_uc002fpx.1_5'Flank	NM_145039	NP_659476	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	21	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						AAGGGTAATCGCTTTCCGTTC	0.483													A	90038269	G	A	90038269	3	1	8	1	0	0	0	0	1	0	0	0	3228	1087	38	1	505	1	CENPBD1	16	90038269	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	423811	90038269	316484	1355	8377											
NXN	64359	broad.mit.edu	37	chr17	725610	725610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgacctgtctgcactaaCgaagatgatctcgaagttct	9	10	3	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:725610C>T	uc002fsa.2	-	4	792	c.700G>A	c.(700-702)GTT>ATT	p.V234I	NXN_uc002fsb.1_Missense_Mutation_p.V121I|NXN_uc010vqd.1_5'UTR|NXN_uc002frz.2_5'UTR|NXN_uc010vqe.1_Missense_Mutation_p.V126I	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	234	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TCTGCACTAACGAAGATGATC	0.473													T	725610	C	T	725610	3	4	8	1	0	0	0	0	1	0	0	0	10787	536	19	1	627	1	NXN	17	725610	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08		725610	80469600	1356	8378											
SLC43A2	124935	broad.mit.edu	37	chr17	1520058	1520058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccactgtgccattggtgaCattctctgtgtgaagaggga	13	9	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:1520058C>T	uc002fsv.2	-	3	255	c.166G>A	c.(166-168)GTC>ATC	p.V56I	SLC43A2_uc002fsu.2_Missense_Mutation_p.V56I|SLC43A2_uc002fsw.2_Missense_Mutation_p.V56I|SLC43A2_uc002fsx.2_Missense_Mutation_p.V56I	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	solute carrier family 43, member 2	56					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		CCATTGGTGACATTCTCTGTG	0.597													T	1520058	C	T	1520058	3	4	8	1	0	0	0	0	1	0	0	0	14633	478	17	4	1591	4	SLC43A2	17	1520058	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	794448	1520058	79675152	1357	8379											
WDR81	124997	broad.mit.edu	37	chr17	1640830	1640830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgtccaacaagattggcGtctgctccctgcttgagcca	10	14	1	2	rs139156426		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:1640830G>A	uc002fti.2	+	10	2257	c.1996G>A	c.(1996-1998)GTC>ATC	p.V666I	WDR81_uc002fth.2_Missense_Mutation_p.V842I|WDR81_uc010vqp.1_Missense_Mutation_p.V690I|WDR81_uc002ftj.2_Missense_Mutation_p.V1893I|WDR81_uc010vqq.1_Missense_Mutation_p.V524I	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN	WD repeat domain 81 isoform 4	666										skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAAGATTGGCGTCTGCTCCCT	0.612													A	1640830	G	A	1640830	3	1	8	1	0	0	0	0	1	0	0	0	17327	1145	40	1	5777	1	WDR81	17	1640830	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	120772	1640830	79554380	1358	8380											
SERPINF1	5176	broad.mit.edu	37	chr17	1679914	1679914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgaccttgatagaggagaGcctcacctccgagttcattc	9	11	2	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:1679914G>A	uc002ftl.2	+	7	1032	c.875G>A	c.(874-876)AGC>AAC	p.S292N	SERPINF1_uc010cjw.2_Missense_Mutation_p.S105N	NM_002615	NP_002606	P36955	PEDF_HUMAN	serine (or cysteine) proteinase inhibitor, clade	292					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			ovary(1)	1						ATAGAGGAGAGCCTCACCTCC	0.522													A	1679914	G	A	1679914	3	1	8	1	0	0	0	0	1	0	0	0	14114	971	34	2	897	2	SERPINF1	17	1679914	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	39084	1679914	79515296	1359	8381											
RAP1GAP2	23108	broad.mit.edu	37	chr17	2867323	2867323	+	Frame_Shift_Del	DEL	G	G	-													ggctacaagctcgagtgcaaGggtgaagccagggcctaccg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:2867322_2867322AG>A	uc010ckd.3	+	6	542	c.452_452AG>A	c.(451-453)aagfs	p.K151fs	RAP1GAP2_uc010cke.3_Frame_Shift_Del_p.K136fs	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	151					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CTCGAGTGCAAGGGTGAAGCC	0.637													-	2867323	G	-	2867323	7	5	8	1	0	1	0	1	0	0	0	0	13038	991	35	0	479	0	RAP1GAP2	17	2867323	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	1187409	2867323	78327887	1360	8382											
ITGAE	3682	broad.mit.edu	37	chr17	3655092	3655092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgagatcccccatagccGccatggcaaagccaaagcgg	11	14	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:3655092G>A	uc002fwo.3	-	15	1844	c.1745C>T	c.(1744-1746)GCG>GTG	p.A582V		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	582	FG-GAP 6.|Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CCCCATAGCCGCCATGGCAAA	0.572													A	3655092	G	A	3655092	3	1	8	1	0	0	0	0	1	0	0	0	7885	1087	38	1	1862	1	ITGAE	17	3655092	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	787769	3655092	77540118	1361	8383											
CYB5D2	124936	broad.mit.edu	37	chr17	4060253	4060253	+	Frame_Shift_Del	DEL	C	C	-													gtgtgtgtgagaaccaccggCccccctagtggccagatgcc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:4060252_4060252GC>G	uc002fxm.4	+	3	1259	c.671_671GC>G	c.(670-672)ggcfs	p.G224fs	CYB5D2_uc002fxl.4_Frame_Shift_Del_p.G112fs|CYB5D2_uc010cko.3_Frame_Shift_Del_p.G112fs	NM_144611	NP_001241685	Q8WUJ1	NEUFC_HUMAN	Homo sapiens cytochrome b5 domain containing 2 (CYB5D2), transcript variant 1, mRNA.	224					nervous system development	extracellular region	heme binding			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						AGAACCACCGGCCCCCCTAGT	0.607											OREG0024097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	4060253	C	-	4060253	7	5	8	1	0	1	0	1	0	0	0	0	4125	726	26	0	686	0	CYB5D2	17	4060253	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	405161	4060253	77134957	1362	8384											
MYBBP1A	10514	broad.mit.edu	37	chr17	4446359	4446359	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcggtgggggagtcgggcTggcggccagcctgctgcacc	21	12	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:4446359T>G	uc002fyb.3	-	20	2803	c.2741A>C	c.(2740-2742)CAG>CCG	p.Q914P	MYBBP1A_uc002fxz.3_Missense_Mutation_p.Q914P|MYBBP1A_uc002fya.3_5'Flank|MYBBP1A_uc010vsa.1_5'UTR	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	914					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						GGAGTCGGGCTGGCGGCCAGC	0.682													G	4446359	T	G	4446359	3	3	8	1	0	0	0	0	1	0	0	0	10008	1580	55	5	1313	5	MYBBP1A	17	4446359	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	386106	4446359	76748851	1363	8385											
MYBBP1A	10514	broad.mit.edu	37	chr17	4448439	4448439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcctcttcactctctgagCttctgttgtcctcaccttcc	4	17	6	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:4448439C>T	uc002fyb.3	-	17	2254	c.2192G>A	c.(2191-2193)AGC>AAC	p.S731N	MYBBP1A_uc002fxz.3_Missense_Mutation_p.S731N|MYBBP1A_uc002fya.3_5'Flank|MYBBP1A_uc010vsa.1_5'Flank	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	731	Glu-rich.				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						actctcTGAGCTTCTGTTGTC	0.453													T	4448439	C	T	4448439	3	4	8	1	0	0	0	0	1	0	0	0	10008	797	28	2	1874	2	MYBBP1A	17	4448439	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2080	4448439	76746771	1364	8386											
PELP1	27043	broad.mit.edu	37	chr17	4594694	4594694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttttgatggaactgagaCgtgcattactgagactcacc	11	8	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:4594694C>T	uc002fyi.3	-	2	519	c.293G>A	c.(292-294)CGT>CAT	p.R98H	PELP1_uc010vsf.1_5'UTR	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	98					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2						GGAACTGAGACGTGCATTACT	0.453													T	4594694	C	T	4594694	3	4	8	1	0	0	0	0	1	0	0	0	11725	536	19	1	3163	1	PELP1	17	4594694	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	146255	4594694	76600516	1365	8387											
TM4SF5	9032	broad.mit.edu	37	chr17	4685809	4685809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatccagatgctgcgctcGgtcttctcctcggcgttcgg	11	15	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:4685809G>A	uc002fyw.1	+	3	301	c.270G>A	c.(268-270)TCG>TCA	p.S90S		NM_003963	NP_003954	O14894	T4S5_HUMAN	transmembrane 4 superfamily member 5	90	Cytoplasmic (Potential).					integral to plasma membrane				ovary(1)	1						TGCTGCGCTCGGTCTTCTCCT	0.602													A	4685809	G	A	4685809	2	1	8	1	0	0	0	0	0	0	0	1	15968	1103	39	1		1	TM4SF5	17	4685809	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	91115	4685809	76509401	1366	8388											
RNF167	26001	broad.mit.edu	37	chr17	4848022	4848022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcagcctaccacagccGctgcgtggacccctggctca	10	18	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:4848022G>A	uc002fzq.2	+	11	1180	c.764G>A	c.(763-765)CGC>CAC	p.R255H	RNF167_uc002fzr.2_Missense_Mutation_p.R255H|RNF167_uc002fzs.2_Missense_Mutation_p.R255H|RNF167_uc002fzt.2_Missense_Mutation_p.R255H|RNF167_uc002fzu.2_Missense_Mutation_p.R254H|RNF167_uc002fzv.2_Missense_Mutation_p.R220H|RNF167_uc002fzx.2_Missense_Mutation_p.R219H|RNF167_uc002fzy.2_Missense_Mutation_p.R54H	NM_015528	NP_056343	Q9H6Y7	RN167_HUMAN	ring finger protein 167 precursor	255	RING-type; atypical.				negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						TACCACAGCCGCTGCGTGGAC	0.622													A	4848022	G	A	4848022	3	1	8	1	0	0	0	0	1	0	0	0	13458	1087	38	1	798	1	RNF167	17	4848022	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	162213	4848022	76347188	1367	8389											
USP6	9098	broad.mit.edu	37	chr17	5072211	5072211	+	Frame_Shift_Del	DEL	G	G	-													cataaaccactcacaccccaGggggatgagctctccaagcc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:5072210_5072210AG>A	uc002gau.1	+	34	5607	c.3377_3377AG>A	c.(3376-3378)cagfs	p.Q1126fs	USP6_uc002gav.1_Frame_Shift_Del_p.Q1126fs|USP6_uc010ckz.1_Frame_Shift_Del_p.Q809fs	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	1126					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTCACACCCCAGGGGGATGAG	0.512			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								-	5072211	G	-	5072211	7	5	8	1	0	1	0	1	0	0	0	0	17083	991	35	0	3480	0	USP6	17	5072211	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	224189	5072211	76122999	1368	8390											
BCL6B	255877	broad.mit.edu	37	chr17	6927588	6927588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctatttgcagatggagcaCgtggtccaggcatgccaccg	12	12	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:6927588C>T	uc002geg.2	+	3	423	c.366C>T	c.(364-366)CAC>CAT	p.H122H	BCL6B_uc010clt.1_Silent_p.H122H	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	122						nucleus	zinc ion binding			skin(1)	1						AGATGGAGCACGTGGTCCAGG	0.602													T	6927588	C	T	6927588	2	4	8	1	0	0	0	0	0	0	0	1	1377	535	19	1		1	BCL6B	17	6927588	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1855377	6927588	74267622	1369	8391											
ACAP1	9744	broad.mit.edu	37	chr17	7252342	7252342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaggacctgggaagcctGcaccctggggccctactgtt	13	13	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:7252342G>A	uc002ggd.2	+	18	1913	c.1707G>A	c.(1705-1707)CTG>CTA	p.L569L	KCTD11_uc002gge.3_5'Flank	NM_014716	NP_055531	Q15027	ACAP1_HUMAN	centaurin beta1	569	Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			breast(2)|large_intestine(1)	3						TGGGAAGCCTGCACCCTGGGG	0.597													A	7252342	G	A	7252342	2	1	8	1	0	0	0	0	0	0	0	1	118	1306	46	2		2	ACAP1	17	7252342	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	324754	7252342	73942868	1370	8392											
ZBTB4	57659	broad.mit.edu	37	chr17	7369348	7369348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acccccgcgtgctggcccctCgtcggcactgggcctcatgg	13	18	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:7369348C>T	uc002ghc.3	-	3	1023	c.773G>A	c.(772-774)CGA>CAA	p.R258Q	ZBTB4_uc002ghd.3_Missense_Mutation_p.R258Q	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GCTGGCCCCTCGTCGGCACTG	0.706													T	7369348	C	T	7369348	3	4	8	1	0	0	0	0	1	0	0	0	17538	884	31	1	2276	1	ZBTB4	17	7369348	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	117006	7369348	73825862	1371	8393											
KDM6B	23135	broad.mit.edu	37	chr17	7750871	7750871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacacttgcagcccggcgCtgaccattaccaaactcccg	7	17	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:7750871C>T	uc002giw.1	+	11	1641	c.1265C>T	c.(1264-1266)GCT>GTT	p.A422V	KDM6B_uc002gix.2_5'UTR	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	422	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						CAGCCCGGCGCTGACCATTAC	0.597													T	7750871	C	T	7750871	3	4	8	1	0	0	0	0	1	0	0	0	8138	797	28	2	1295	2	KDM6B	17	7750871	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	381523	7750871	73444339	1372	8394											
ALOXE3	59344	broad.mit.edu	37	chr17	7999976	7999976	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctgttctcaatgaggggaGggtccaggtaggtgtagggc	18	7	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:7999976G>T	uc010cnr.2	-	16	2475	c.2105C>A	c.(2104-2106)CCT>CAT	p.P702H	ALOXE3_uc002gka.2_Missense_Mutation_p.P858H|ALOXE3_uc010vuo.1_Missense_Mutation_p.P834H	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3 isoform 2	702	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			skin(3)|lung(1)|central_nervous_system(1)	5						AATGAGGGGAGGGTCCAGGTA	0.592													T	7999976	G	T	7999976	3	4	8	1	0	0	0	0	1	0	0	0	542	1000	35	5	34	5	ALOXE3	17	7999976	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	249105	7999976	73195234	1373	8395											
PFAS	5198	broad.mit.edu	37	chr17	8158378	8158378	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accccaacatccaccaacatCgtgtcagtgtgccgcgccac	7	18	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:8158378C>T	uc002gkr.2	+	4	453	c.312C>T	c.(310-312)ATC>ATT	p.I104I	PFAS_uc010vuv.1_5'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	104					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCACCAACATCGTGTCAGTGT	0.632													T	8158378	C	T	8158378	2	4	8	1	0	0	0	0	0	0	0	1	11754	874	31	1		1	PFAS	17	8158378	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	158402	8158378	73036832	1374	8396											
KRBA2	124751	broad.mit.edu	37	chr17	8272949	8272949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctggtttgtgaactcaaCgccactgtcagagtctaaca	8	11	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:8272949C>T	uc002glf.1	-	2	988	c.982G>A	c.(982-984)GTT>ATT	p.V328I	KRBA2_uc002glg.1_Missense_Mutation_p.V245I	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	328	Integrase catalytic.				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding				0						GTGAACTCAACGCCACTGTCA	0.478													T	8272949	C	T	8272949	3	4	8	1	0	0	0	0	1	0	0	0	8440	536	19	1	500	1	KRBA2	17	8272949	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	114571	8272949	72922261	1375	8397											
MYH10	4628	broad.mit.edu	37	chr17	8396161	8396161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtggtccaggtccaccGtgaggtcgtccagctcctgc	14	14	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:8396161G>A	uc002gll.2	-	31	4394	c.4298C>T	c.(4297-4299)ACG>ATG	p.T1433M	MYH10_uc002glm.2_Missense_Mutation_p.T1464M|MYH10_uc010cnx.2_Missense_Mutation_p.T1442M	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1433	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						CAGGTCCACCGTGAGGTCGTC	0.622													A	8396161	G	A	8396161	3	1	8	1	0	0	0	0	1	0	0	0	10030	1145	40	1	1676	1	MYH10	17	8396161	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	123212	8396161	72799049	1376	8398											
USP43	124739	broad.mit.edu	37	chr17	9615374	9615374	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcctgctgtcctggagcTctgccccctgcccctccctg	10	19	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:9615374T>G	uc010cod.2	+	14	2260	c.2260T>G	c.(2260-2262)TCT>GCT	p.S754A	USP43_uc002gma.3_Missense_Mutation_p.S443A|USP43_uc010vva.1_Missense_Mutation_p.S749A|USP43_uc010coe.2_Missense_Mutation_p.S551A|USP43_uc002gmc.3_Missense_Mutation_p.S266A	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	754					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GTCCTGGAGCTCTGCCCCCTG	0.587													G	9615374	T	G	9615374	3	3	8	1	0	0	0	0	1	0	0	0	17071	1551	54	5	2314	5	USP43	17	9615374	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	1219213	9615374	71579836	1377	8399											
MYH13	8735	broad.mit.edu	37	chr17	10231407	10231407	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgacgttcataaaagagcGgatgttgtactggatgcaga	12	6	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:10231407G>T	uc002gmk.1	-	22	2557	c.2467C>A	c.(2467-2469)CGC>AGC	p.R823S		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	823					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						ATAAAAGAGCGGATGTTGTAC	0.507											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	10231407	G	T	10231407	3	4	8	1	0	0	0	0	1	0	0	0	10032	1116	39	5	3429	5	MYH13	17	10231407	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	616033	10231407	70963803	1378	8400											
DNAH9	1770	broad.mit.edu	37	chr17	11711081	11711082	+	Frame_Shift_Ins	INS	-	-	G													cgcatcttggagtccccgcgINSgggaaatgctctgctggttg					rs151011026		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:11711080_11711081C>CG	uc002gne.3	+	43	8520_8521	c.8452_8453C>CG	c.(8452-8454)cggfs	p.R2818fs	DNAH9_uc010coo.3_Frame_Shift_Ins_p.R2112fs	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2818	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGAGTCCCCGCGGGGAAATGCT	0.52													G	11711082	-	G	11711081	7	5	8	1	0	1	1	0	0	0	0	0	4608	1116	39	0	8627	0	DNAH9	17	11711081	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	1479674	11711081	69484129	1379	8401											
DNAH9	1770	broad.mit.edu	37	chr17	11778363	11778363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagggcctcccagccgaccGcatgtccgtggagaatgcca	13	15	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:11778363G>A	uc002gne.2	+	53	10408	c.10340G>A	c.(10339-10341)CGC>CAC	p.R3447H	DNAH9_uc010coo.2_Missense_Mutation_p.R2741H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3447	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCAGCCGACCGCATGTCCGTG	0.557													A	11778363	G	A	11778363	3	1	8	1	0	0	0	0	1	0	0	0	4608	1087	38	1	10550	1	DNAH9	17	11778363	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	67282	11778363	69416847	1380	8402											
DNAH9	1770	broad.mit.edu	37	chr17	11806149	11806149	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaaagagaagctcccacaGgagtggaagaacaagacagc	13	8	0	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:11806149G>T	uc002gne.2	+	60	11588	c.11520G>T	c.(11518-11520)CAG>CAT	p.Q3840H	DNAH9_uc010coo.2_Missense_Mutation_p.Q3134H|DNAH9_uc002gnf.2_Missense_Mutation_p.Q152H|DNAH9_uc010vvh.1_Missense_Mutation_p.Q193H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3840					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGCTCCCACAGGAGTGGAAGA	0.532													T	11806149	G	T	11806149	3	4	8	1	0	0	0	0	1	0	0	0	4608	991	35	5	11758	5	DNAH9	17	11806149	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	27786	11806149	69389061	1381	8403											
MYOCD	93649	broad.mit.edu	37	chr17	12661453	12661453	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccaaagttttcaattccaTccccaactttttctaagtca	4	12	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:12661453T>C	uc002gnn.2	+	11	2409	c.2110T>C	c.(2110-2112)TCC>CCC	p.S704P	MYOCD_uc002gno.2_Missense_Mutation_p.S752P|MYOCD_uc002gnp.1_Missense_Mutation_p.S656P|MYOCD_uc002gnq.2_Intron	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	704					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TTCAATTCCATCCCCAACTTT	0.398													C	12661453	T	C	12661453	3	2	8	1	0	0	0	0	1	0	0	0	10087	1435	50	3	2300	3	MYOCD	17	12661453	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	855304	12661453	68533757	1382	8404											
MPRIP	23164	broad.mit.edu	37	chr17	17075070	17075070	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgcagcaatggaagaaacGcaccagaagaagattgaaga	11	6	0	6			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:17075070G>A	uc002gqu.1	+	16	2258	c.2202G>A	c.(2200-2202)ACG>ACA	p.T734T	MPRIP_uc002gqv.1_Silent_p.T734T|MPRIP_uc002gqw.1_Silent_p.T489T|MPRIP_uc002gqx.1_Silent_p.T963T|MPRIP_uc002gqy.1_Silent_p.T963T|MPRIP_uc010cpl.1_5'Flank|MPRIP_uc010cpm.1_5'Flank	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	734	Interaction with RHOA.|Potential.					cytoplasm|cytoskeleton	actin binding				0						TGGAAGAAACGCACCAGAAGA	0.527													A	17075070	G	A	17075070	2	1	8	1	0	0	0	0	0	0	0	1	9743	1074	38	1		1	MPRIP	17	17075070	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4413617	17075070	64120140	1383	8405											
RAI1	10743	broad.mit.edu	37	chr17	17698482	17698482	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccagctcagcggacagCgccaacccctttgcctggcc	11	18	1	0	rs149807469		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:17698482C>T	uc002grm.2	+	3	2689	c.2220C>T	c.(2218-2220)AGC>AGT	p.S740S	RAI1_uc002grn.1_Silent_p.S740S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	740						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CAGCGGACAGCGCCAACCCCT	0.622													T	17698482	C	T	17698482	2	4	8	1	0	0	0	0	0	0	0	1	13007	767	27	1		1	RAI1	17	17698482	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	623412	17698482	63496728	1384	8406											
SREBF1	6720	broad.mit.edu	37	chr17	17720322	17720322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcctccagaagtacacggCggggcctgagtggggccgtg	17	11	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:17720322C>T	uc002gru.1	-	9	1929	c.1735G>A	c.(1735-1737)GCC>ACC	p.A579T	SREBF1_uc002grp.1_Missense_Mutation_p.A198T|SREBF1_uc002grq.1_Missense_Mutation_p.A98T|SREBF1_uc002grr.1_Missense_Mutation_p.A325T|SREBF1_uc002grs.1_Missense_Mutation_p.A555T|SREBF1_uc002grt.1_Missense_Mutation_p.A609T	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	579	Cytoplasmic (Potential).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						AAGTACACGGCGGGGCCTGAG	0.667													T	17720322	C	T	17720322	3	4	8	1	0	0	0	0	1	0	0	0	15140	768	27	1	1752	1	SREBF1	17	17720322	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	21840	17720322	63474888	1385	8407											
TOM1L2	146691	broad.mit.edu	37	chr17	17766046	17766046	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaaggggccccacatacgTcttgcgctgctcagccaagg	11	13	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:17766046T>C	uc002grz.3	-	11	1358	c.1201A>G	c.(1201-1203)ACG>GCG	p.T401A	TOM1L2_uc002gry.3_Missense_Mutation_p.T351A|TOM1L2_uc010vwy.1_Missense_Mutation_p.T348A|TOM1L2_uc010cpr.2_Missense_Mutation_p.T356A|TOM1L2_uc010vwz.1_Missense_Mutation_p.T253A|TOM1L2_uc010vxa.1_Missense_Mutation_p.T303A|TOM1L2_uc002grv.3_Missense_Mutation_p.T134A	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 isoform 3	401					intracellular protein transport	intracellular					0	all_neural(463;0.228)					CCCACATACGTCTTGCGCTGC	0.527													C	17766046	T	C	17766046	3	2	8	1	0	0	0	0	1	0	0	0	16350	1681	58	3	342	3	TOM1L2	17	17766046	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	45724	17766046	63429164	1386	8408											
SLC5A10	125206	broad.mit.edu	37	chr17	18874437	18874437	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccacgtacagacgccatgcAcatgtttcgagacccccaca	8	16	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:18874437A>T	uc002guu.1	+	8	793	c.752A>T	c.(751-753)CAC>CTC	p.H251L	SLC5A10_uc002gur.1_Missense_Mutation_p.H168L|SLC5A10_uc002gut.1_Missense_Mutation_p.H251L|SLC5A10_uc002guv.1_Missense_Mutation_p.H224L|SLC5A10_uc010vyl.1_Missense_Mutation_p.H251L|FAM83G_uc002guw.2_3'UTR	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/glucose	251	Extracellular (Potential).				sodium ion transport|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1						GACGCCATGCACATGTTTCGA	0.627													T	18874437	A	T	18874437	3	4	8	1	0	0	0	0	1	0	0	0	14662	159	6	5	782	5	SLC5A10	17	18874437	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1108391	18874437	62320773	1387	8409											
ALDH3A2	224	broad.mit.edu	37	chr17	19568354	19568354	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaactctttcccatttggaGgagtgggtgagtcttatttt	10	7	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:19568354G>T	uc002gwb.1	+	8	1422	c.1201G>T	c.(1201-1203)GGA>TGA	p.G401*	ALDH3A2_uc002gwa.1_Nonsense_Mutation_p.G401*|ALDH3A2_uc010cqr.1_Nonsense_Mutation_p.G208*|ALDH3A2_uc002gwc.1_Nonsense_Mutation_p.G401*|ALDH3A2_uc002gwd.1_Nonsense_Mutation_p.G208*	NM_000382	NP_000373	P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3A2 isoform 2	401	Cytoplasmic.				cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(2)	2	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	CCCATTTGGAGGAGTGGGTGA	0.453													T	19568354	G	T	19568354	4	4	8	1	0	0	0	0	0	1	0	0	498	1001	35	5	1231	5	ALDH3A2	17	19568354	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	693917	19568354	61626856	1388	8410											
KIAA0100	9703	broad.mit.edu	37	chr17	26943183	26943183	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttgttcatggcagctcgCtctttcatcttgtcaatgtc	9	10	5	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:26943183C>T	uc002hbu.2	-	37	6420	c.6321G>A	c.(6319-6321)GAG>GAA	p.E2107E	SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_Intron|KIAA0100_uc002hbt.2_Silent_p.E436E	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	2107						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					TGGCAGCTCGCTCTTTCATCT	0.478													T	26943183	C	T	26943183	2	4	8	1	0	0	0	0	0	0	0	1	8154	796	28	2		2	KIAA0100	17	26943183	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	7374829	26943183	54252027	1389	8411											
RAB34	83871	broad.mit.edu	37	chr17	27042914	27042914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttatcaaaggtgtctttgCagaacctgagagggtaccag	11	8	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:27042914C>T	uc002hce.2	-	4	842	c.218G>A	c.(217-219)TGC>TAC	p.C73Y	RAB34_uc002hcg.2_Missense_Mutation_p.C73Y|RAB34_uc002hcf.2_Missense_Mutation_p.C74Y|RAB34_uc010was.1_Missense_Mutation_p.C130Y|RAB34_uc010wat.1_Missense_Mutation_p.C130Y|RAB34_uc002hch.2_Missense_Mutation_p.C73Y|RAB34_uc010wau.1_Missense_Mutation_p.C51Y|RAB34_uc010wav.1_Missense_Mutation_p.C131Y	NM_031934	NP_114140	Q9BZG1	RAB34_HUMAN	Ras-related protein RAB34 isoform 1	73					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding				0	Lung NSC(42;0.00431)					GGTGTCTTTGCAGAACCTGAG	0.547													T	27042914	C	T	27042914	3	4	8	1	0	0	0	0	1	0	0	0	12924	710	25	2	653	2	RAB34	17	27042914	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	99731	27042914	54152296	1390	8412											
NEK8	284086	broad.mit.edu	37	chr17	27068996	27068996	+	Frame_Shift_Del	DEL	C	C	-													gcggtcacagatgagccggtCcccccctgaggcacccggat							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:27068995_27068995TC>T	uc002hcp.3	+	14	2069	c.2069_2069TC>T	c.(2068-2070)gtcfs	p.V690fs	TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.3_5'Flank	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	690						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GATGAGCCGGTCCCCCCCTGA	0.582													-	27068996	C	-	27068996	7	5	8	1	0	1	0	1	0	0	0	0	10330	842	30	0	2128	0	NEK8	17	27068996	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	26082	27068996	54126214	1391	8413											
PHF12	57649	broad.mit.edu	37	chr17	27233909	27233910	+	Frame_Shift_Ins	INS	-	-	G													tttggcaacaatactgcttgINSggggggttggcggggtcttc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:27233908_27233909T>TG	uc002hdg.1	-	13	3175_3176	c.2645_2646A>CA	c.(2644-2646)ccafs	p.P882fs	PHF12_uc010wbb.1_Frame_Shift_Ins_p.P864fs	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	882					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CAATACTGCTTGGGGGGGTTGG	0.51													G	27233910	-	G	27233909	7	5	8	1	0	1	1	0	0	0	0	0	11823	1348	47	0	377	0	PHF12	17	27233909	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	164913	27233909	53961301	1392	8414											
PHF12	57649	broad.mit.edu	37	chr17	27251130	27251130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgggagtctctgtgctgGcgctggatgtgggtgtgcca	19	7	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:27251130G>A	uc002hdg.1	-	4	1042	c.512C>T	c.(511-513)GCC>GTC	p.A171V	PHF12_uc010wbb.1_Missense_Mutation_p.A153V|PHF12_uc002hdi.1_Missense_Mutation_p.A167V|PHF12_uc002hdj.1_Missense_Mutation_p.A171V|PHF12_uc010crw.1_Intron|uc002hdl.2_5'Flank|PHF12_uc002hdh.1_5'UTR	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	171	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CTCTGTGCTGGCGCTGGATGT	0.567													A	27251130	G	A	27251130	3	1	8	1	0	0	0	0	1	0	0	0	11823	1203	42	2	2576	2	PHF12	17	27251130	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	17221	27251130	53944080	1393	8415											
SSH2	85464	broad.mit.edu	37	chr17	28003848	28003848	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatcttaccacattgcctGcacagatacaggtttgaata	7	10	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:28003848G>A	uc002heo.1	-	7	523	c.523C>T	c.(523-525)CAG>TAG	p.Q175*	SSH2_uc010wbh.1_Nonsense_Mutation_p.Q202*|SSH2_uc002hep.1_Nonsense_Mutation_p.Q175*|SSH2_uc002heq.2_Nonsense_Mutation_p.Q182*|SSH2_uc002her.2_Nonsense_Mutation_p.Q175*|SSH2_uc010csc.1_Nonsense_Mutation_p.Q175*	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	175					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						CACATTGCCTGCACAGATACA	0.348													A	28003848	G	A	28003848	4	1	8	1	0	0	0	0	0	1	0	0	15184	1328	46	2	3784	2	SSH2	17	28003848	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	752718	28003848	53191362	1394	8416											
ATAD5	79915	broad.mit.edu	37	chr17	29196630	29196630	+	Frame_Shift_Del	DEL	T	T	-													gtaaactcacaaaaaccctgTttttttaatagctactacat							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:29196629_29196629GT>G	uc002hfs.1	+	13	3915	c.3572_3572GT>G	c.(3571-3573)tgtfs	p.C1191fs	ATAD5_uc002hft.1_Frame_Shift_Del_p.C1088fs	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	1191					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CAAAAACCCTGTTTTTTTAAT	0.353													-	29196630	T	-	29196630	7	5	8	1	0	1	0	1	0	0	0	0	1076	1731	60	0	3627	0	ATAD5	17	29196630	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	1192782	29196630	51998580	1395	8417											
RDM1	201299	broad.mit.edu	37	chr17	34257080	34257080	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattccatatttggacccacCttgactggagatttctgaaa	7	9	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:34257080C>A	uc002hkh.2	-	2	325	c.276G>T	c.(274-276)AAG>AAT	p.K92N	RDM1_uc010cty.2_RNA|RDM1_uc010ctz.2_Missense_Mutation_p.K69N|RDM1_uc010cua.2_Missense_Mutation_p.K69N|RDM1_uc002hkg.3_Missense_Mutation_p.K69N|RDM1_uc010cub.2_RNA|RDM1_uc010cud.2_Missense_Mutation_p.K92N|RDM1_uc010cuf.2_RNA|RDM1_uc010cue.2_Intron|RDM1_uc010cug.2_RNA|RDM1_uc010cuc.2_Missense_Mutation_p.K92N|RDM1_uc010wco.1_Missense_Mutation_p.K69N|RDM1_uc010wcp.1_Missense_Mutation_p.K69N|RDM1_uc002hki.2_Missense_Mutation_p.K92N	NM_145654	NP_663629	Q8NG50	RDM1_HUMAN	RAD52 motif 1 isoform 1	92	RRM.|Necessary for nuclear and nucleolar localization.|Necessary for nuclear localization and for nucleolar accumulation in response to heat shock.				DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTGGACCCACCTTGACTGGAG	0.358								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	34257080	C	A	34257080	3	1	8	1	0	0	0	0	1	0	0	0	13197	695	24	5	646	5	RDM1	17	34257080	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	5060450	34257080	46938130	1396	8418											
MYO19	80179	broad.mit.edu	37	chr17	34862341	34862341	+	Frame_Shift_Del	DEL	G	G	-													caggggccctgctctggccaGggggttcctcctgggtcttc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:34862340_34862340AG>A	uc010wcy.2	-	18	2744	c.1752_1752CT>T	c.(1750-1752)cctfs	p.P584fs	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Intron|MYO19_uc010wcz.1_Non-coding_Transcript	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	584	Myosin head-like.					mitochondrial outer membrane|myosin complex	ATP binding|actin binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGCTCTGGCCAGGGGGTTCCT	0.587													-	34862341	G	-	34862341	7	5	8	1	0	1	0	1	0	0	0	0	10067	1000	35	0	1197	0	MYO19	17	34862341	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	605261	34862341	46332869	1397	8419											
GPR179	440435	broad.mit.edu	37	chr17	36483525	36483525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctttaggttggtcagggCgctgtctgtctaggtgagag	16	6	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:36483525C>T	uc002hpz.2	-	11	5948	c.5927G>A	c.(5926-5928)CGC>CAC	p.R1976H		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1976	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGGTCAGGGCGCTGTCTGTC	0.552													T	36483525	C	T	36483525	3	4	8	1	0	0	0	0	1	0	0	0	6674	768	27	1	1180	1	GPR179	17	36483525	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1621184	36483525	44711685	1398	8420											
CDK12	51755	broad.mit.edu	37	chr17	37673788	37673788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagcaatatcgaaggcGtctacgagaagaattctctt	10	7	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:37673788G>A	uc010cvv.2	+	10	3528	c.2942G>A	c.(2941-2943)CGT>CAT	p.R981H	CDK12_uc010wef.1_Missense_Mutation_p.R980H|CDK12_uc002hrw.3_Missense_Mutation_p.R981H	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	981	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						TATCGAAGGCGTCTACGAGAA	0.473										TCGA Ovarian(9;0.13)			A	37673788	G	A	37673788	3	1	8	1	0	0	0	0	1	0	0	0	3128	1145	40	1	2980	1	CDK12	17	37673788	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1190263	37673788	43521422	1399	8421											
ZPBP2	124626	broad.mit.edu	37	chr17	38024801	38024801	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgttttatttcctccgcaGtccaatgcccgcgttttacc	7	13	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:38024801G>A	uc002hte.2	+	2	206	c.53_splice	c.e2-1	p.V18_splice	ZPBP2_uc002htf.2_Intron	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2 isoform 2						binding of sperm to zona pellucida	extracellular region				ovary(1)	1	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTCCTCCGCAGTCCAATGCCC	0.547													A	38024801	G	A	38024801	5	1	8	1	0	0	0	0	0	0	1	0	18217	1043	36	4	58	4	ZPBP2	17	38024801	Splice_Site	SNP	G	TCGA-BR-4201-01A-01D-1126-08	351013	38024801	43170409	1400	8422											
MSL1	339287	broad.mit.edu	37	chr17	38282534	38282535	+	Frame_Shift_Del	DEL	AG	AG	-													tttcagggctatgaaactgaAgagagagaggaaacagagct							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:38282533_38282534AAG>A	uc002hub.3	+	1	282_283	c.263_264AAG>A	c.(262-264)gaafs	p.E88fs	MSL1_uc002hua.4_Frame_Shift_Del_p.E26fs|MSL1_uc002huc.2_Frame_Shift_Del_p.E26fs|MSL1_uc021txa.1_5'Flank	NM_001012241	NP_001012241	Q68DK7	MSL1_HUMAN	Homo sapiens male-specific lethal 1 homolog (Drosophila) (MSL1), mRNA.	289	Pro-rich.				histone H4-K16 acetylation	MSL complex				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						TATGAAACTGAAGAGAGAGAGG	0.49													-	38282535	AG	-	38282534	7	5	8	1	0	1	0	1	0	0	0	0	9877	69	3	0	80	0	MSL1	17	38282534	Frame_Shift_Del	DEL	AG	TCGA-BR-4201-01A-01D-1126-08	257733	38282534	42912676	1401	8423											
KRT28	162605	broad.mit.edu	37	chr17	38955915	38955915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagaggagtcccccttcGcttccagcaaagccaataca	8	15	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:38955915G>A	uc002hvh.1	-	1	297	c.231C>T	c.(229-231)AGC>AGT	p.S77S		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	77	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				GTCCCCCTTCGCTTCCAGCAA	0.537													A	38955915	G	A	38955915	2	1	8	1	0	0	0	0	0	0	0	1	8465	1078	38	1		1	KRT28	17	38955915	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	673381	38955915	42239295	1402	8424											
KRT38	8687	broad.mit.edu	37	chr17	39593778	39593778	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagggagacgtggagcaCggattgcaggggagtctgca	19	7	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:39593778C>T	uc002hwq.1	-	7	1680	c.1257G>A	c.(1255-1257)CCG>CCA	p.P419P		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	419	Tail.					intermediate filament	structural molecule activity			skin(2)	2		Breast(137;0.000496)				ACGTGGAGCACGGATTGCAGG	0.637													T	39593778	C	T	39593778	2	4	8	1	0	0	0	0	0	0	0	1	8475	523	19	1		1	KRT38	17	39593778	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	637863	39593778	41601432	1403	8425											
JUP	3728	broad.mit.edu	37	chr17	39680724	39680724	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggatcttggcgagatcGgtgcccggagcggaatccac	14	12	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:39680724G>A	uc010wfs.1	-	7	1226	c.1218C>T	c.(1216-1218)ACC>ACT	p.T406T	KRT15_uc002hxb.1_5'Flank|uc002hxc.1_5'Flank|KRT19_uc002hxd.3_Silent_p.T243T	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	Error:Variant_position_missing_in_P14923_after_alignment					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGGCGAGATCGGTGCCCGGAG	0.572													A	39680724	G	A	39680724	2	1	8	1	0	0	0	0	0	0	0	1	7972	1103	39	1		1	JUP	17	39680724	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	86946	39680724	41514486	1404	8426											
ACLY	47	broad.mit.edu	37	chr17	40028082	40028083	+	Frame_Shift_Ins	INS	-	-	C													aaggcacccccaaaccgatcINScccctggaggagaaacaagt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:40028081_40028082T>TC	uc002hyg.3	-	24	2960_2961	c.2797_2798A>GA	c.(2797-2799)gatfs	p.D933fs	ACLY_uc002hyh.3_Frame_Shift_Ins_p.D923fs|ACLY_uc002hyi.3_Frame_Shift_Ins_p.D987fs|ACLY_uc010wfx.2_Frame_Shift_Ins_p.D977fs|ACLY_uc010wfy.2_Frame_Shift_Ins_p.D662fs	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	933					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CCCAAACCGATCCCCCTGGAGG	0.525													C	40028083	-	C	40028082	7	5	8	1	0	1	1	0	0	0	0	0	143	855	30	0	528	0	ACLY	17	40028082	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	347358	40028082	41167128	1405	8427											
STAT5B	6777	broad.mit.edu	37	chr17	40362447	40362447	+	Frame_Shift_Del	DEL	T	T	-													ttccaatgaggcttgagatgTttttttaacacttccatcac							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:40362446_40362446GT>G	uc002hzh.3	-	13	1919	c.1750_1750AC>C	c.(1750-1752)catfs	p.H584fs		NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	584					2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GGCTTGAGATGTTTTTTTAAC	0.428													-	40362447	T	-	40362447	7	5	8	1	0	1	0	1	0	0	0	0	15268	1722	60	0	638	0	STAT5B	17	40362447	Frame_Shift_Del	DEL	T	TCGA-BR-4201-01A-01D-1126-08	334365	40362447	40832763	1406	8428											
PSMC3IP	29893	broad.mit.edu	37	chr17	40729286	40729286	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctctttgatcttgcctTgttgcgccagctgctccagc	8	14	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:40729286T>C	uc002iai.2	-	3	213	c.170A>G	c.(169-171)CAA>CGA	p.Q57R	PSMC3IP_uc002iaj.2_5'UTR|PSMC3IP_uc002iak.2_Missense_Mutation_p.Q57R|PSMC3IP_uc010wgn.1_5'UTR|PSMC3IP_uc010wgo.1_RNA|PSMC3IP_uc010wgp.1_RNA	NM_016556	NP_057640	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein isoform 2	57					DNA recombination|meiosis	nucleus	DNA binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GATCTTGCCTTGTTGCGCCAG	0.547													C	40729286	T	C	40729286	3	2	8	1	0	0	0	0	1	0	0	0	12688	1812	63	3	507	3	PSMC3IP	17	40729286	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	366839	40729286	40465924	1407	8429											
TUBG2	27175	broad.mit.edu	37	chr17	40818663	40818663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttgacaagctgcggaagCgggatgccttcctcgagcag	14	10	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:40818663C>T	uc010wgr.1	+	11	1457	c.1201C>T	c.(1201-1203)CGG>TGG	p.R401W	TUBG2_uc002iaq.2_3'UTR|TUBG2_uc002iar.2_Missense_Mutation_p.R248W|TUBG2_uc002ias.2_Missense_Mutation_p.R243W|TUBG2_uc002iap.2_Missense_Mutation_p.R248W	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	401					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		GCTGCGGAAGCGGGATGCCTT	0.498													T	40818663	C	T	40818663	3	4	8	1	0	0	0	0	1	0	0	0	16762	759	27	1	1243	1	TUBG2	17	40818663	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	89377	40818663	40376547	1408	8430											
DHX8	1659	broad.mit.edu	37	chr17	41570275	41570275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgggacaaatatggagagCggaatctggatagatggcgg	16	6	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:41570275C>T	uc002idu.1	+	6	803	c.730C>T	c.(730-732)CGG>TGG	p.R244W	DHX8_uc010wif.1_Missense_Mutation_p.R153W|DHX8_uc010wig.1_Missense_Mutation_p.R244W	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	244						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ATATGGAGAGCGGAATCTGGA	0.527													T	41570275	C	T	41570275	3	4	8	1	0	0	0	0	1	0	0	0	4515	759	27	1	752	1	DHX8	17	41570275	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	751612	41570275	39624935	1409	8431											
MPP3	4356	broad.mit.edu	37	chr17	41879176	41879176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctccttcaccagcacggCgtctaccaggtgcccgtaat	8	16	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:41879176C>T	uc002iei.3	-	20	1817	c.1651G>A	c.(1651-1653)GCC>ACC	p.A551T	MPP3_uc002ieh.2_Missense_Mutation_p.A576T|MPP3_uc002iej.2_RNA	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	551	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		ACCAGCACGGCGTCTACCAGG	0.562													T	41879176	C	T	41879176	3	4	8	1	0	0	0	0	1	0	0	0	9735	768	27	1	110	1	MPP3	17	41879176	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	308901	41879176	39316034	1410	8432											
HDAC5	10014	broad.mit.edu	37	chr17	42156018	42156018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcggcgaacttctgcacaCagctccagtgtttgcctgtg	11	13	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:42156018C>T	uc002ifd.1	-	26	3390	c.3179G>A	c.(3178-3180)TGT>TAT	p.C1060Y	HDAC5_uc002ife.1_Missense_Mutation_p.C1060Y|HDAC5_uc002iff.1_Missense_Mutation_p.C1061Y|HDAC5_uc010czp.1_Missense_Mutation_p.C975Y	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	1060					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CTTCTGCACACAGCTCCAGTG	0.642													T	42156018	C	T	42156018	3	4	8	1	0	0	0	0	1	0	0	0	7010	478	17	4	197	4	HDAC5	17	42156018	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	276842	42156018	39039192	1411	8433											
RUNDC3A	10900	broad.mit.edu	37	chr17	42390862	42390862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggctctgcgtgacacccGgaccaccaggtcagacttcc	10	17	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:42390862G>A	uc002igl.3	+	4	723	c.449G>A	c.(448-450)CGG>CAG	p.R150Q	RUNDC3A_uc002igi.2_Missense_Mutation_p.R150Q|RUNDC3A_uc002igj.2_Missense_Mutation_p.R145Q|RUNDC3A_uc002igk.2_Missense_Mutation_p.R146Q	NM_001144825	NP_001138297	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A isoform 1	150	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity				0		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGTGACACCCGGACCACCAGG	0.552													A	42390862	G	A	42390862	3	1	8	1	0	0	0	0	1	0	0	0	13744	1116	39	1	463	1	RUNDC3A	17	42390862	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	234844	42390862	38804348	1412	8434											
KIAA1267	284058	broad.mit.edu	37	chr17	44116010	44116010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggatggtgggtggctGccaagtagctcgaactgctc	17	8	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:44116010G>A	uc002ikb.2	-	9	2520	c.2435C>T	c.(2434-2436)GCA>GTA	p.A812V	KIAA1267_uc002ikc.2_Missense_Mutation_p.A812V|KIAA1267_uc002ikd.2_Missense_Mutation_p.A812V|KIAA1267_uc010dav.2_Missense_Mutation_p.A812V|KIAA1267_uc010wkb.1_Missense_Mutation_p.A143V|KIAA1267_uc010wkc.1_Missense_Mutation_p.A80V	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	812						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				GTGGGTGGCTGCCAAGTAGCT	0.527													A	44116010	G	A	44116010	3	1	8	1	0	0	0	0	1	0	0	0	8219	1319	46	2	906	2	KIAA1267	17	44116010	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1725148	44116010	37079200	1413	8435											
NFE2L1	4779	broad.mit.edu	37	chr17	46135788	46135788	+	Frame_Shift_Del	DEL	G	G	-													agcctgcatcaggcgtccctGgggggctgcagccaggactt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:46135787_46135787TG>T	uc002imz.4	+	5	1754	c.1103_1103TG>T	c.(1102-1104)ctgfs	p.L368fs	NFE2L1_uc002ina.4_Frame_Shift_Del_p.L338fs|NFE2L1_uc002inb.4_Frame_Shift_Del_p.L338fs|NFE2L1_uc010wle.2_Frame_Shift_Del_p.L180fs|NFE2L1_uc010wlf.2_Frame_Shift_Del_p.L212fs	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 1 (NFE2L1), mRNA.	368					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGGCGTCCCTGGGGGGCTGC	0.607													-	46135788	G	-	46135788	7	5	8	1	0	1	0	1	0	0	0	0	10367	1335	47	0	1122	0	NFE2L1	17	46135788	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	2019778	46135788	35059422	1414	8436											
NFE2L1	4779	broad.mit.edu	37	chr17	46136299	46136299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctggatctggaagaggccGagggtgctgtgggctaccag	17	10	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:46136299G>A	uc002imz.3	+	6	2266	c.1615G>A	c.(1615-1617)GAG>AAG	p.E539K	NFE2L1_uc002ina.3_Missense_Mutation_p.E509K|NFE2L1_uc002inb.3_Missense_Mutation_p.E509K|NFE2L1_uc010wle.1_Missense_Mutation_p.E351K|NFE2L1_uc010wlf.1_Missense_Mutation_p.E383K	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	539					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			skin(1)	1						GGAAGAGGCCGAGGGTGCTGT	0.473													A	46136299	G	A	46136299	3	1	8	1	0	0	0	0	1	0	0	0	10367	1059	37	1	1633	1	NFE2L1	17	46136299	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	511	46136299	35058911	1415	8437											
SCPEP1	59342	broad.mit.edu	37	chr17	55083545	55083545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttctaggttccttctgaCcaaggggacatggctctgaa	10	9	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:55083545C>T	uc002iuv.3	+	13	1361	c.1308C>T	c.(1306-1308)GAC>GAT	p.D436D	SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Silent_p.D386D	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1 precursor	436					proteolysis	extracellular region	serine-type carboxypeptidase activity			skin(1)	1	Breast(9;2.86e-08)					TTCCTTCTGACCAAGGGGACA	0.517													T	55083545	C	T	55083545	2	4	8	1	0	0	0	0	0	0	0	1	13935	506	18	4		4	SCPEP1	17	55083545	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	8947246	55083545	26111665	1416	8438											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	8	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	1351616	56435161	24760049	1417	8439											
RNF43	54894	broad.mit.edu	37	chr17	56437605	56437605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggaggcaggaaatgaccCgtagctcctggagaaaaaga	13	8	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:56437605C>T	uc002iwf.2	-	7	2813	c.857G>A	c.(856-858)CGG>CAG	p.R286Q	RNF43_uc010wnv.1_Missense_Mutation_p.R245Q|RNF43_uc002iwh.3_Missense_Mutation_p.R286Q|RNF43_uc002iwg.3_Missense_Mutation_p.R286Q|RNF43_uc010dcw.2_Missense_Mutation_p.R159Q	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	286	RING-type; atypical.|Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGAAATGACCCGTAGCTCCTG	0.532													T	56437605	C	T	56437605	3	4	8	1	0	0	0	0	1	0	0	0	13495	652	23	1	1506	1	RNF43	17	56437605	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2444	56437605	24757605	1418	8440											
CLTC	1213	broad.mit.edu	37	chr17	57744280	57744280	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtggcttctaaatatcaTgaacaactgtcaactcagtc	7	10	4	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:57744280T>C	uc002ixq.1	+	13	2513	c.2070T>C	c.(2068-2070)CAT>CAC	p.H690H	CLTC_uc002ixp.2_Silent_p.H690H|CLTC_uc002ixr.1_Silent_p.H694H	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	690	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTAAATATCATGAACAACTGT	0.373			T	ALK|TFE3	ALCL|renal 								C	57744280	T	C	57744280	2	2	8	1	0	0	0	0	0	0	0	1	3566	1461	51	3		3	CLTC	17	57744280	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	1306675	57744280	23450930	1419	8441											
CLTC	1213	broad.mit.edu	37	chr17	57771129	57771129	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagcaggacccagtgttgcCgtccctccccaggcaccttt	9	17	0	0	rs148633723		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:57771129C>A	uc002ixq.1	+	32	5387	c.4944C>A	c.(4942-4944)GCC>GCA	p.A1648A	CLTC_uc002ixr.1_Silent_p.A1652A	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	1648	Heavy chain arm.|Proximal segment.|Trimerization (By similarity).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CCAGTGTTGCCGTCCCTCCCC	0.557			T	ALK|TFE3	ALCL|renal 								A	57771129	C	A	57771129	2	1	8	1	0	0	0	0	0	0	0	1	3566	639	23	5		5	CLTC	17	57771129	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	26849	57771129	23424081	1420	8442											
HEATR6	63897	broad.mit.edu	37	chr17	58134524	58134524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgacaatggaaatgcagagtCgaatgagccagcagggctct	13	9	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:58134524C>T	uc002iyk.1	-	12	1981	c.1964G>A	c.(1963-1965)CGA>CAA	p.R655Q	HEATR6_uc010ddk.1_Missense_Mutation_p.R194Q|HEATR6_uc010wos.1_Missense_Mutation_p.R487Q	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	655							binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AATGCAGAGTCGAATGAGCCA	0.557													T	58134524	C	T	58134524	3	4	8	1	0	0	0	0	1	0	0	0	7033	884	31	1	1617	1	HEATR6	17	58134524	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	363395	58134524	23060686	1421	8443											
HEATR6	63897	broad.mit.edu	37	chr17	58147131	58147131	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgataggtgttcgcccatCatactgaggaagcggagttg	13	7	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:58147131C>T	uc002iyk.1	-	7	897	c.880G>A	c.(880-882)GAT>AAT	p.D294N	HEATR6_uc010wos.1_Missense_Mutation_p.D126N	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	294							binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GTTCGCCCATCATACTGAGGA	0.398													T	58147131	C	T	58147131	3	4	8	1	0	0	0	0	1	0	0	0	7033	826	29	4	2721	4	HEATR6	17	58147131	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	12607	58147131	23048079	1422	8444											
TBX2	6909	broad.mit.edu	37	chr17	59479234	59479234	+	Frame_Shift_Del	DEL	G	G	-													cacccagacagcccagccacGggggagcagtggatggctaa							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:59479233_59479233CG>C	uc010wox.2	+	1	865	c.584_584CG>C	c.(583-585)acgfs	p.T195fs	TBX2_uc002ize.3_Frame_Shift_Del_p.T185fs|TBX2_uc002izg.3_Frame_Shift_Del_p.T41fs	NM_005994	NP_005985	Q13207	TBX2_HUMAN	Homo sapiens T-box 2 (TBX2), mRNA.	195					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						AGCCCAGCCACGGGGGAGCAG	0.597													-	59479234	G	-	59479234	7	5	8	1	0	1	0	1	0	0	0	0	15652	1103	39	0	591	0	TBX2	17	59479234	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	1332103	59479234	21715976	1423	8445											
TANC2	26115	broad.mit.edu	37	chr17	61497887	61497887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcagggaggatcttaccGtttcagcccccctcctgtgg	10	14	4	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:61497887G>A	uc002jal.3	+	25	4567	c.4544G>A	c.(4543-4545)CGT>CAT	p.R1515H	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Missense_Mutation_p.R626H	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1515							binding			ovary(2)	2						GGATCTTACCGTTTCAGCCCC	0.597													A	61497887	G	A	61497887	3	1	8	1	0	0	0	0	1	0	0	0	15542	1145	40	1	4642	1	TANC2	17	61497887	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2018653	61497887	19697323	1424	8446											
MAP3K3	4215	broad.mit.edu	37	chr17	61759155	61759155	+	Frame_Shift_Del	DEL	C	C	-													accctggccgaagctcacctCcccctggctatgttcctgag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:61759154_61759154TC>T	uc002jbg.3	+	6	850	c.531_531TC>T	c.(529-531)cctfs	p.P177fs	MAP3K3_uc002jbe.3_Frame_Shift_Del_p.P208fs|MAP3K3_uc002jbf.3_Frame_Shift_Del_p.P208fs|MAP3K3_uc002jbh.3_Frame_Shift_Del_p.P208fs|MAP3K3_uc010wpo.2_Frame_Shift_Del_p.P92fs|MAP3K3_uc010wpp.2_Frame_Shift_Del_p.P177fs	NM_002401	NP_002392	Q99759	M3K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 2, mRNA.	177					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						GAAGCTCACCTCCCCCTGGCT	0.617													-	61759155	C	-	61759155	7	5	8	1	0	1	0	1	0	0	0	0	9251	855	30	0	655	0	MAP3K3	17	61759155	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	261268	61759155	19436055	1425	8447											
FTSJ3	117246	broad.mit.edu	37	chr17	61898993	61898993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcatcgtcctcgatcccaGcaaagctgccctgtgatagg	11	14	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:61898993G>A	uc002jbz.2	-	15	1685	c.1607C>T	c.(1606-1608)GCT>GTT	p.A536V	FTSJ3_uc002jca.2_Missense_Mutation_p.A536V	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	536					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						CTCGATCCCAGCAAAGCTGCC	0.592													A	61898993	G	A	61898993	3	1	8	1	0	0	0	0	1	0	0	0	6089	971	34	2	960	2	FTSJ3	17	61898993	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	139838	61898993	19296217	1426	8448											
SMARCD2	6603	broad.mit.edu	37	chr17	61912092	61912092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgattgtcaggcccgtaCagctccttgtccagctcaat	10	12	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:61912092C>T	uc010deb.1	-	6	1109	c.792G>A	c.(790-792)CTG>CTA	p.L264L	SMARCD2_uc010wpt.1_Silent_p.L216L|SMARCD2_uc010dea.1_Silent_p.L189L|SMARCD2_uc010dec.1_Silent_p.L243L	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	SWI/SNF-related matrix-associated	264					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0						CAGGCCCGTACAGCTCCTTGT	0.552											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	61912092	C	T	61912092	2	4	8	1	0	0	0	0	0	0	0	1	14778	465	17	4		4	SMARCD2	17	61912092	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	13099	61912092	19283118	1427	8449											
SCN4A	6329	broad.mit.edu	37	chr17	62020407	62020407	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatcatgatggtgatgTcgaaggcctgcttcgtcacg	14	8	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:62020407T>C	uc002jds.1	-	23	4144	c.4067A>G	c.(4066-4068)GAC>GGC	p.D1356G		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1356	Helical; Name=S1 of repeat IV; (Potential).|IV.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GATGGTGATGTCGAAGGCCTG	0.552													C	62020407	T	C	62020407	3	2	8	1	0	0	0	0	1	0	0	0	13920	1667	58	3	1451	3	SCN4A	17	62020407	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	108315	62020407	19174803	1428	8450											
ARSG	22901	broad.mit.edu	37	chr17	66303763	66303763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactttgtgattattttggcCgatgacatggggtggggtga	15	4	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:66303763C>T	uc002jhc.2	+	2	925	c.129C>T	c.(127-129)GCC>GCT	p.A43A	ARSG_uc002jhb.1_Intron	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Arylsulfatase G precursor	43					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTATTTTGGCCGATGACATGG	0.478													T	66303763	C	T	66303763	2	4	8	1	0	0	0	0	0	0	0	1	992	639	23	1		1	ARSG	17	66303763	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	4283356	66303763	14891447	1429	8451											
ABCA8	10351	broad.mit.edu	37	chr17	66937011	66937011	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtatctacccgtcccagGtccatggtaagcagtgaaga	10	10	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:66937011G>A	uc002jhp.2	-	3	368	c.189C>T	c.(187-189)GAC>GAT	p.D63D	ABCA8_uc002jhq.2_Silent_p.D63D|ABCA8_uc010wqq.1_Silent_p.D63D|ABCA8_uc010wqr.1_Silent_p.D2D|ABCA8_uc002jhr.2_Silent_p.D63D|ABCA8_uc002jhs.2_Silent_p.D63D|ABCA8_uc002jht.2_Silent_p.D63D	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	63						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					CCCGTCCCAGGTCCATGGTAA	0.368													A	66937011	G	A	66937011	2	1	8	1	0	0	0	0	0	0	0	1	38	1252	44	4		4	ABCA8	17	66937011	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	633248	66937011	14258199	1430	8452											
ABCA9	10350	broad.mit.edu	37	chr17	66982353	66982353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgagacctttcacggcaGcgtacacctccaggtgctgc	10	15	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:66982353G>A	uc002jhu.2	-	32	4303	c.4160C>T	c.(4159-4161)GCT>GTT	p.A1387V	ABCA9_uc010dez.2_Missense_Mutation_p.A1349V	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1387	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					TTTCACGGCAGCGTACACCTC	0.612													A	66982353	G	A	66982353	3	1	8	1	0	0	0	0	1	0	0	0	39	971	34	2	746	2	ABCA9	17	66982353	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	45342	66982353	14212857	1431	8453											
ABCA9	10350	broad.mit.edu	37	chr17	67016664	67016664	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaagacaaaacttgttccAgctcaacaaggcttcctata	7	10	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:67016664A>G	uc002jhu.2	-	19	2608	c.2465T>C	c.(2464-2466)CTG>CCG	p.L822P	ABCA9_uc010dez.2_Missense_Mutation_p.L822P	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	822					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					AACTTGTTCCAGCTCAACAAG	0.408													G	67016664	A	G	67016664	3	3	8	1	0	0	0	0	1	0	0	0	39	188	7	3	2493	3	ABCA9	17	67016664	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	34311	67016664	14178546	1432	8454											
ABCA9	10350	broad.mit.edu	37	chr17	67039677	67039677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgtcatcaatgacgtaatGtattgtctttcttgtgtaac	7	6	4	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:67039677G>A	uc002jhu.2	-	6	896	c.753C>T	c.(751-753)TAC>TAT	p.Y251Y	ABCA9_uc010dez.2_Silent_p.Y251Y|ABCA9_uc002jhv.2_Silent_p.Y251Y	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	251					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					ATGACGTAATGTATTGTCTTT	0.323													A	67039677	G	A	67039677	2	1	8	1	0	0	0	0	0	0	0	1	39	1372	48	4		4	ABCA9	17	67039677	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	23013	67039677	14155533	1433	8455											
ABCA6	23460	broad.mit.edu	37	chr17	67110969	67110969	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgaggttttccttcacGgtgagtatgtcaaattgaac	11	7	2	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:67110969G>A	uc002jhw.1	-	13	1891	c.1716C>T	c.(1714-1716)ACC>ACT	p.T572T	ABCA6_uc002jhx.1_Silent_p.T25T	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	572	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					TTTCCTTCACGGTGAGTATGT	0.403													A	67110969	G	A	67110969	2	1	8	1	0	0	0	0	0	0	0	1	36	1103	39	1		1	ABCA6	17	67110969	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	71292	67110969	14084241	1434	8456											
CDC42EP4	23580	broad.mit.edu	37	chr17	71282053	71282053	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgcttcagcccgtacgtgGccttgggcacgacaggcaga	13	13	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:71282053G>T	uc002jjn.2	-	2	734	c.587C>A	c.(586-588)GCC>GAC	p.A196D	CDC42EP4_uc002jjo.2_Missense_Mutation_p.A196D|CDC42EP4_uc002jjp.1_Missense_Mutation_p.A126D	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Cdc42 effector protein 4	196					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding				0			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCCGTACGTGGCCTTGGGCAC	0.632													T	71282053	G	T	71282053	3	4	8	1	0	0	0	0	1	0	0	0	3078	1203	42	5	487	5	CDC42EP4	17	71282053	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4171084	71282053	9913157	1435	8457											
MRPS7	51081	broad.mit.edu	37	chr17	73259534	73259534	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccatcaagcactgaaaaaCtgtgagcctatgattgggct	9	9	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:73259534C>A	uc002jnm.3	+	4	686	c.453C>A	c.(451-453)AAC>AAA	p.N151K	GGA3_uc002jni.1_5'Flank|GGA3_uc002jnj.1_5'Flank|GGA3_uc010wrw.1_5'Flank|GGA3_uc002jnk.1_5'Flank|GGA3_uc010wrx.1_5'Flank|GGA3_uc010wry.1_5'Flank|GGA3_uc010wrz.1_5'Flank|MRPS7_uc002jnl.2_Missense_Mutation_p.N151K|MRPS7_uc002jnn.3_Missense_Mutation_p.N180K	NM_015971	NP_057055	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7 precursor	151					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)	1	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CACTGAAAAACTGTGAGCCTA	0.517													A	73259534	C	A	73259534	3	1	8	1	0	0	0	0	1	0	0	0	9848	564	20	5	467	5	MRPS7	17	73259534	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1977481	73259534	7935676	1436	8458											
QRICH2	84074	broad.mit.edu	37	chr17	74288203	74288203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggttgcaccaaaccacGctgatccactccaggttgga	9	14	0	1	rs148029652		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:74288203G>A	uc002jrd.1	-	4	2287	c.2107C>T	c.(2107-2109)CGT>TGT	p.R703C	QRICH2_uc010wsz.1_Missense_Mutation_p.R629C|QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	703	Gln-rich.						protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						accaaaccacgctgatccact	0													A	74288203	G	A	74288203	3	1	8	1	0	0	0	0	1	0	0	0	12880	1087	38	1	2948	1	QRICH2	17	74288203	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1028669	74288203	6907007	1437	8459											
RHBDF2	79651	broad.mit.edu	37	chr17	74470845	74470845	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acccagaagttctcctgctgGatgtacttcacgctctcgta	8	13	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:74470845G>T	uc002jrq.1	-	11	1649	c.1356C>A	c.(1354-1356)ATC>ATA	p.I452I	RHBDF2_uc002jrp.1_Silent_p.I423I|RHBDF2_uc002jrr.1_Silent_p.I304I|RHBDF2_uc010wtf.1_Silent_p.I423I	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	rhomboid, veinlet-like 6 isoform 1	452	Lumenal (Potential).				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity				0						TCTCCTGCTGGATGTACTTCA	0.622													T	74470845	G	T	74470845	2	4	8	1	0	0	0	0	0	0	0	1	13320	1164	41	5		5	RHBDF2	17	74470845	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	182642	74470845	6724365	1438	8460											
CYGB	114757	broad.mit.edu	37	chr17	74527577	74527577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaccttgtgcttgagggCgtgggctttccccacaaggg	13	12	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:74527577C>T	uc002jru.1	-	2	498	c.340G>A	c.(340-342)GCC>ACC	p.A114T	CYGB_uc002jrv.1_Missense_Mutation_p.A49T|PRCD_uc002jrw.1_Intron	NM_134268	NP_599030	Q8WWM9	CYGB_HUMAN	cytoglobin	114	Globin.				response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity				0						TGCTTGAGGGCGTGGGCTTTC	0.642													T	74527577	C	T	74527577	3	4	8	1	0	0	0	0	1	0	0	0	4139	768	27	1	244	1	CYGB	17	74527577	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	56732	74527577	6667633	1439	8461											
ENGASE	64772	broad.mit.edu	37	chr17	77082376	77082376	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtccccaaggaagggttccGggtacctcaggccgagtggg	16	11	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:77082376G>T	uc002jwv.2	+	14	2185	c.2177G>T	c.(2176-2178)CGG>CTG	p.R726L	ENGASE_uc002jww.2_Missense_Mutation_p.R431L	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	726						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			skin(1)	1						GAAGGGTTCCGGGTACCTCAG	0.647													T	77082376	G	T	77082376	3	4	8	1	0	0	0	0	1	0	0	0	5118	1116	39	5	2231	5	ENGASE	17	77082376	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2554799	77082376	4112834	1440	8462											
CARD14	79092	broad.mit.edu	37	chr17	78176086	78176086	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggccaaaggggagctgCaggtgcattgcaacgaggtc	17	9	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:78176086C>T	uc002jxw.1	+	15	2281	c.2086C>T	c.(2086-2088)CAG>TAG	p.Q696*	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Nonsense_Mutation_p.Q696*|CARD14_uc010wud.1_RNA	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	696					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGGGGAGCTGCAGGTGCATTG	0.617													T	78176086	C	T	78176086	4	4	8	1	0	0	0	0	0	1	0	0	2646	711	25	2	2305	2	CARD14	17	78176086	Nonsense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1093710	78176086	3019124	1441	8463											
RNF213	57674	broad.mit.edu	37	chr17	78354648	78354648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagacaaggcagacagaaCgcagaccggccacgtgctgg	14	12	0	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:78354648C>T	uc002jyh.1	+	31	8100	c.7877C>T	c.(7876-7878)ACG>ATG	p.T2626M	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.T1008M	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCAGACAGAACGCAGACCGGC	0.602													T	78354648	C	T	78354648	3	4	8	1	0	0	0	0	1	0	0	0	13477	536	19	1	14195	1	RNF213	17	78354648	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	178562	78354648	2840562	1442	8464											
RPTOR	57521	broad.mit.edu	37	chr17	78599546	78599546	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatgttggtgtggaccctcCcgatgtggtgaagaccacgc	14	10	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:78599546C>A	uc002jyt.1	+	2	1023	c.218C>A	c.(217-219)CCC>CAC	p.P73H	RPTOR_uc002jys.2_Missense_Mutation_p.P73H|RPTOR_uc010wuf.1_5'UTR|RPTOR_uc010wug.1_Missense_Mutation_p.P73H	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	73					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						GTGGACCCTCCCGATGTGGTG	0.498													A	78599546	C	A	78599546	3	1	8	1	0	0	0	0	1	0	0	0	13665	623	22	5	224	5	RPTOR	17	78599546	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	244898	78599546	2595664	1443	8465											
GPS1	2873	broad.mit.edu	37	chr17	80011774	80011774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacgcggccagctacagcGgcctgatgcgcatcgaacgg	14	13	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:80011774G>A	uc002kdl.1	+	3	202	c.157G>A	c.(157-159)GGC>AGC	p.G53S	RFNG_uc002kdj.2_5'Flank|GPS1_uc002kdk.1_Missense_Mutation_p.G93S|GPS1_uc010dij.1_Missense_Mutation_p.G93S|GPS1_uc002kdm.1_Missense_Mutation_p.G37S|GPS1_uc002kdn.1_Missense_Mutation_p.G53S|GPS1_uc002kdo.1_Missense_Mutation_p.G53S|GPS1_uc010wvh.1_Missense_Mutation_p.G45S	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	53					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CAGCTACAGCGGCCTGATGCG	0.632													A	80011774	G	A	80011774	3	1	8	1	0	0	0	0	1	0	0	0	6732	1116	39	1	324	1	GPS1	17	80011774	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1412228	80011774	1183436	1444	8466											
DUS1L	64118	broad.mit.edu	37	chr17	80019841	80019841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccttctgctccttggtgcGtccgtgcaccgtcagcaact	9	17	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:80019841G>A	uc002kdq.2	-	5	948	c.529C>T	c.(529-531)CGC>TGC	p.R177C	DUS1L_uc002kdp.2_Missense_Mutation_p.R46C|DUS1L_uc002kdr.2_Missense_Mutation_p.R177C|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA|DUS1L_uc010wvi.1_Missense_Mutation_p.R160C	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	PP3111 protein	177					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			skin(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TCCTTGGTGCGTCCGTGCACC	0.448													A	80019841	G	A	80019841	3	1	8	1	0	0	0	0	1	0	0	0	4805	1145	40	1	928	1	DUS1L	17	80019841	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	8067	80019841	1175369	1445	8467											
ZNF750	79755	broad.mit.edu	37	chr17	80788993	80788993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggctttgctctggcggGtagagtcttcccagtgcgct	15	10	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:80788993G>A	uc002kga.2	-	2	1649	c.1338C>T	c.(1336-1338)TAC>TAT	p.Y446Y	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	446						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTCTGGCGGGTAGAGTCTTC	0.597													A	80788993	G	A	80788993	2	1	8	1	0	0	0	0	0	0	0	1	18129	1256	44	4		4	ZNF750	17	80788993	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	769152	80788993	406217	1446	8468											
MYOM1	8736	broad.mit.edu	37	chr18	3142040	3142040	+	Frame_Shift_Del	DEL	G	G	-													cagtgacagagaggtctgtcGgggggccaggcacaataccc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:3142039_3142039CG>C	uc002klp.3	-	13	2257	c.1923_1923CG>G	c.(1921-1923)ccgfs	p.P641fs	MYOM1_uc002klq.3_Frame_Shift_Del_p.P641fs	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	641	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle	p.P641Q(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGAGGTCTGTCGGGGGGCCAG	0.542													-	3142040	G	-	3142040	7	5	8	1	0	1	0	1	0	0	0	0	10091	1116	39	0	3235	0	MYOM1	18	3142040	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08		3142040	74935208	1447	8469											
C18orf1	753	broad.mit.edu	37	chr18	13621228	13621228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacgcggtccttcatcaaCcgcccgaaccagagccggag	10	17	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:13621228C>T	uc002ksa.2	+	5	962	c.294C>T	c.(292-294)AAC>AAT	p.N98N	C18orf1_uc002ksb.2_Silent_p.N98N|C18orf1_uc002kse.2_Silent_p.N61N|C18orf1_uc002ksf.2_Silent_p.N61N|C18orf1_uc002ksg.1_Silent_p.N21N|C18orf1_uc002ksh.1_Silent_p.N40N|C18orf1_uc002ksi.1_Silent_p.N40N	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	98	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)		CCTTCATCAACCGCCCGAACC	0.632													T	13621228	C	T	13621228	2	4	8	1	0	0	0	0	0	0	0	1	1894	506	18	4		4	C18orf1	18	13621228	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	10479188	13621228	64456020	1448	8470											
LAMA3	3909	broad.mit.edu	37	chr18	21495282	21495282	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgactaagtttccctccataCaaaggttgtattgaattaga	7	8	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:21495282C>T	uc002kuq.2	+	59	7760	c.7674C>T	c.(7672-7674)TAC>TAT	p.Y2558Y	LAMA3_uc002kur.2_Silent_p.Y2502Y|LAMA3_uc002kus.3_Silent_p.Y949Y|LAMA3_uc002kut.3_Silent_p.Y893Y	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2558	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCCTCCATACAAAGGTTGTA	0.338													T	21495282	C	T	21495282	2	4	8	1	0	0	0	0	0	0	0	1	8607	489	17	4		4	LAMA3	18	21495282	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	7874054	21495282	56581966	1449	8471											
DSG3	1830	broad.mit.edu	37	chr18	29038474	29038474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagtgggaatcgatcagCcgccttttggaatctttgtt	12	8	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:29038474C>T	uc002kws.2	+	4	392	c.283C>T	c.(283-285)CCG>TCG	p.P95S		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	95	Extracellular (Potential).|Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AATCGATCAGCCGCCTTTTGG	0.443													T	29038474	C	T	29038474	3	4	8	1	0	0	0	0	1	0	0	0	4778	739	26	2	297	2	DSG3	18	29038474	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	7543192	29038474	49038774	1450	8472											
ASXL3	80816	broad.mit.edu	37	chr18	31323494	31323494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgaaaatagcagtgtgCccatgctttttaataaaaat	6	7	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:31323494C>T	uc010dmg.1	+	12	3737	c.3682C>T	c.(3682-3684)CCC>TCC	p.P1228S	ASXL3_uc002kxq.2_Missense_Mutation_p.P935S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1228	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						TAGCAGTGTGCCCATGCTTTT	0.373													T	31323494	C	T	31323494	3	4	8	1	0	0	0	0	1	0	0	0	1068	739	26	2	3728	2	ASXL3	18	31323494	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2285020	31323494	46753754	1451	8473											
ASXL3	80816	broad.mit.edu	37	chr18	31325001	31325001	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taccgatgccctgaagagagTccctggtgcagggagctcag	14	11	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:31325001T>A	uc010dmg.1	+	12	5244	c.5189T>A	c.(5188-5190)GTC>GAC	p.V1730D	ASXL3_uc002kxq.2_Missense_Mutation_p.V1437D	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1730					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						CTGAAGAGAGTCCCTGGTGCA	0.532													A	31325001	T	A	31325001	3	1	8	1	0	0	0	0	1	0	0	0	1068	1667	58	5	5235	5	ASXL3	18	31325001	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	1507	31325001	46752247	1452	8474											
ASXL3	80816	broad.mit.edu	37	chr18	31326157	31326157	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagaacagttaaaagcattCgcgctaaaaagtgcagattt	8	6	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:31326157C>T	uc010dmg.1	+	12	6400	c.6345C>T	c.(6343-6345)TTC>TTT	p.F2115F	ASXL3_uc002kxq.2_Silent_p.F1822F	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	2115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						TAAAAGCATTCGCGCTAAAAA	0.413													T	31326157	C	T	31326157	2	4	8	1	0	0	0	0	0	0	0	1	1068	883	31	1		1	ASXL3	18	31326157	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1156	31326157	46751091	1453	8475											
GALNT1	2589	broad.mit.edu	37	chr18	33243635	33243635	+	Frame_Shift_Del	DEL	G	G	-													catgaaggtcctggagaaatGgggaaaccagtcgtcattcc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:33243634_33243634TG>T	uc010dmu.3	+	2	235	c.182_182TG>T	c.(181-183)atgfs	p.M61fs	GALNT1_uc002kyz.4_Frame_Shift_Del_p.M1fs|GALNT1_uc002kza.2_Frame_Shift_Del_p.M61fs|GALNT1_uc002kzb.3_Frame_Shift_Del_p.M61fs	NM_020474	NP_065207	Q10472	GALT1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA.	61					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						CCTGGAGAAATGGGGAAACCA	0.353													-	33243635	G	-	33243635	7	5	8	1	0	1	0	1	0	0	0	0	6207	1348	47	0	189	0	GALNT1	18	33243635	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	1917478	33243635	44833613	1454	8476											
FHOD3	80206	broad.mit.edu	37	chr18	34261513	34261513	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggttgcagagaatagagcgGgaagaaagaaacaaattcag	13	4	1	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:34261513G>T	uc002kzt.1	+	12	1522	c.1425G>T	c.(1423-1425)CGG>CGT	p.R475R	FHOD3_uc002kzr.1_Silent_p.R475R|FHOD3_uc002kzs.1_Silent_p.R475R|FHOD3_uc010dmz.1_Silent_p.R190R	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	475	Potential.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GAATAGAGCGGGAAGAAAGAA	0.403													T	34261513	G	T	34261513	2	4	8	1	0	0	0	0	0	0	0	1	5883	1219	43	5		5	FHOD3	18	34261513	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1017878	34261513	43815735	1455	8477											
LMAN1	3998	broad.mit.edu	37	chr18	57013285	57013285	+	Splice_Site	DEL	T	T	-													tttctttatctggtgtgggcTtttttttggagttttggaat							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:57013284_57013284CT>C	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CTGGTGTGGGCTTTTTTTTGG	0.294													-	57013285	T	-	57013285	8	5	8	1	0	1	0	1	0	0	1	0	8836	1623	56	0	735	0	LMAN1	18	57013285	Splice_Site	DEL	T	TCGA-BR-4201-01A-01D-1126-08	22751772	57013285	21063963	1456	8478											
BCL2	596	broad.mit.edu	37	chr18	60985789	60985789	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcggcccccgggggcgcGgcgcccacatctcccgcatc	16	19	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:60985789G>A	uc002lit.1	-	2	604	c.111C>T	c.(109-111)GCC>GCT	p.A37A	BCL2_uc002liu.1_Silent_p.A37A|BCL2_uc002liv.1_Silent_p.A37A	NM_000633	NP_000624	P10415	BCL2_HUMAN	B-cell lymphoma protein 2 alpha isoform	37					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)	1		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	ccgggggcgcggcgcccACAT	0.527			T	IGH@	NHL|CLL								A	60985789	G	A	60985789	2	1	8	1	0	0	0	0	0	0	0	1	1365	1103	39	1		1	BCL2	18	60985789	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3972504	60985789	17091459	1457	8479											
CDH19	28513	broad.mit.edu	37	chr18	64172527	64172527	+	Frame_Shift_Del	DEL	A	A	-													gttgttttaaacccaaagtcAaaaaaataaaccctgatgaa							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:64172526_64172526CA>C	uc002lkc.1	-	11	1980	c.1842_1842TG>G	c.(1840-1842)ttgfs	p.L614fs	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Frame_Shift_Del_p.*491fs	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	614					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AACCCAAAGTCAAAAAAATAA	0.323													-	64172527	A	-	64172527	7	5	8	1	0	1	0	1	0	0	0	0	3104	131	5	0	481	0	CDH19	18	64172527	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	3186738	64172527	13904721	1458	8480											
RTTN	25914	broad.mit.edu	37	chr18	67776813	67776813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagctccatcccggaaacGcagtgaggttagccatccct	11	13	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:67776813G>A	uc002lkp.2	-	28	3892	c.3824C>T	c.(3823-3825)GCG>GTG	p.A1275V	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.A363V	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1275							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				TCCCGGAAACGCAGTGAGGTT	0.507													A	67776813	G	A	67776813	3	1	8	1	0	0	0	0	1	0	0	0	13737	1087	38	1	2944	1	RTTN	18	67776813	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3604286	67776813	10300435	1459	8481											
RTTN	25914	broad.mit.edu	37	chr18	67781838	67781838	+	Splice_Site	DEL	A	A	-													taacagtgggtttgcactctAaaaaatgaaatttgtaaaaa							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:67781837_67781837TA>T	uc002lkp.2	-	27	3597	c.3529_splice	c.e27-1	p.S1177_splice	RTTN_uc002lko.2_Splice_Site|RTTN_uc010xfb.1_Splice_Site_p.S265_splice	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1177							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GTTTGCACTCTAAAAAATGAA	0.358													-	67781838	A	-	67781838	8	5	8	1	0	1	0	1	0	0	1	0	13737	377	13	0		0	RTTN	18	67781838	Splice_Site	DEL	A	TCGA-BR-4201-01A-01D-1126-08	5025	67781838	10295410	1460	8482											
ZNF407	55628	broad.mit.edu	37	chr18	72343485	72343485	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagaatctcctttccccccGaaagaaattagtgttagttg	8	9	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:72343485G>A	uc002llw.2	+	1	567	c.510G>A	c.(508-510)CCG>CCA	p.P170P	ZNF407_uc010xfc.1_Silent_p.P170P|ZNF407_uc010dqu.1_Silent_p.P170P|ZNF407_uc002llu.2_Silent_p.P169P	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CTTTCCCCCCGAAAGAAATTA	0.393													A	72343485	G	A	72343485	2	1	8	1	0	0	0	0	0	0	0	1	17884	1045	37	1		1	ZNF407	18	72343485	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4561647	72343485	5733763	1461	8483											
ZNF236	7776	broad.mit.edu	37	chr18	74583706	74583706	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatcgacagaagtggattcAcgtattcgtgtccgcactgt	10	9	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:74583706A>G	uc002lmi.2	+	5	784	c.586A>G	c.(586-588)ACG>GCG	p.T196A	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.T196A	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	196					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AAGTGGATTCACGTATTCGTG	0.438													G	74583706	A	G	74583706	3	3	8	1	0	0	0	0	1	0	0	0	17786	159	6	3	604	3	ZNF236	18	74583706	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	2240221	74583706	3493542	1462	8484											
GALR1	2587	broad.mit.edu	37	chr18	74980856	74980856	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaccaattgtactcatgtgTgataaaagatagagtatcct	7	7	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:74980856T>C	uc002lms.3	+	3	1545	c.1048T>C	c.(1048-1050)TGA>CGA	p.*350R		NM_001480	NP_001471	P47211	GALR1_HUMAN	galanin receptor 1	350					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			lung(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TACTCATGTGTGATAAAAGAT	0.388													C	74980856	T	C	74980856	4	2	8	1	0	0	0	0	0	0	0	0	6227	1709	59	3	1058	3	GALR1	18	74980856	Nonstop_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	397150	74980856	3096392	1463	8485											
PTBP1	5725	broad.mit.edu	37	chr19	810550	810550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctcccacaggccctcaGtctccgaggaggatctcaag	9	16	4	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:810550G>A	uc002lpr.2	+	13	1499	c.1393G>A	c.(1393-1395)GTC>ATC	p.V465I	PTBP1_uc002lpp.2_Missense_Mutation_p.V491I|PTBP1_uc002lpq.2_Missense_Mutation_p.V484I|PTBP1_uc002lps.2_Missense_Mutation_p.V131I|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Missense_Mutation_p.V461I	NM_031991	NP_114368	P26599	PTBP1_HUMAN	polypyrimidine tract-binding protein 1 isoform	465	RRM 4.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			kidney(1)|skin(1)	2		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGCCCTCAGTCTCCGAGGA	0.612													A	810550	G	A	810550	3	1	8	1	0	0	0	0	1	0	0	0	12725	1029	36	4	1525	4	PTBP1	19	810550	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08		810550	58318433	1464	8486											
PRTN3	5657	broad.mit.edu	37	chr19	847857	847857	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggaatagactccttcgTgatctggggatgtgccaccc	11	12	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:847857T>C	uc002lqa.1	+	5	683	c.659T>C	c.(658-660)GTG>GCG	p.V220A		NM_002777	NP_002768	P24158	PRTN3_HUMAN	myeloblastin	220	Peptidase S1.				collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity			ovary(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACTCCTTCGTGATCTGGGGA	0.617													C	847857	T	C	847857	3	2	8	1	0	0	0	0	1	0	0	0	12639	1696	59	3	677	3	PRTN3	19	847857	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	37307	847857	58281126	1465	8487											
AP3D1	8943	broad.mit.edu	37	chr19	2102224	2102224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaacaagttgctcagtagcGtggagtcactgcacttcccg	10	12	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:2102224G>A	uc002luz.2	-	30	3633	c.3410C>T	c.(3409-3411)ACG>ATG	p.T1137M	AP3D1_uc010dsv.2_Missense_Mutation_p.T227M|AP3D1_uc002luy.2_Missense_Mutation_p.T1096M|AP3D1_uc002lva.2_Missense_Mutation_p.T1199M	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	1137					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCAGTAGCGTGGAGTCACT	0.507													A	2102224	G	A	2102224	3	1	8	1	0	0	0	0	1	0	0	0	746	1145	40	1	55	1	AP3D1	19	2102224	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1254367	2102224	57026759	1466	8488											
AP3D1	8943	broad.mit.edu	37	chr19	2138638	2138638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacgtcagcttgcagaccgCgttcgccttcaccgctatgt	9	14	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:2138638C>T	uc002luz.2	-	2	395	c.172G>A	c.(172-174)GCG>ACG	p.A58T	AP3D1_uc002luy.2_Missense_Mutation_p.A58T|AP3D1_uc002lva.2_Missense_Mutation_p.A58T	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	58	HEAT 1.				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCAGACCGCGTTCGCCTTC	0.532													T	2138638	C	T	2138638	3	4	8	1	0	0	0	0	1	0	0	0	746	768	27	1	3563	1	AP3D1	19	2138638	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	36414	2138638	56990345	1467	8489											
UBXN6	80700	broad.mit.edu	37	chr19	4453928	4453928	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggagggccatatctcaccCtggtttcggatggtgtcctg	14	10	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:4453928C>A	uc002man.1	-	2	342	c.246G>T	c.(244-246)CAG>CAT	p.Q82H	UBXN6_uc010dty.1_Missense_Mutation_p.Q29H|UBXN6_uc002mam.1_Missense_Mutation_p.Q29H	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	82						microtubule organizing center|nucleus	protein binding				0						ATATCTCACCCTGGTTTCGGA	0.662													A	4453928	C	A	4453928	3	1	8	1	0	0	0	0	1	0	0	0	16914	695	24	5	1119	5	UBXN6	19	4453928	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2315290	4453928	54675055	1468	8490											
KDM4B	23030	broad.mit.edu	37	chr19	5047625	5047625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaccttcgcctggcacaccGaggacatggacctgtacagc	10	16	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:5047625G>A	uc002mbq.3	+	6	797	c.571G>A	c.(571-573)GAG>AAG	p.E191K	KDM4B_uc010xil.1_Missense_Mutation_p.E191K|KDM4B_uc010xim.1_Missense_Mutation_p.E191K	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	191	JmjC.	Iron; catalytic (By similarity).			chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						CTGGCACACCGAGGACATGGA	0.632													A	5047625	G	A	5047625	3	1	8	1	0	0	0	0	1	0	0	0	8129	1059	37	1	585	1	KDM4B	19	5047625	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	593697	5047625	54081358	1469	8491											
PTPRS	5802	broad.mit.edu	37	chr19	5219994	5219994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcacgaagaggacatagcGgtggccgggctccaggcccc	15	13	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:5219994G>A	uc002mbv.2	-	22	3955	c.3721C>T	c.(3721-3723)CGC>TGC	p.R1241C	PTPRS_uc002mbu.1_Missense_Mutation_p.R810C|PTPRS_uc010xin.1_Missense_Mutation_p.R810C|PTPRS_uc002mbw.2_Missense_Mutation_p.R1219C|PTPRS_uc002mbx.2_Missense_Mutation_p.R814C|PTPRS_uc002mby.2_Missense_Mutation_p.R810C	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1241	Extracellular (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		AGGACATAGCGGTGGCCGGGC	0.597													A	5219994	G	A	5219994	3	1	8	1	0	0	0	0	1	0	0	0	12811	1116	39	1	2193	1	PTPRS	19	5219994	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	172369	5219994	53908989	1470	8492											
PTPRS	5802	broad.mit.edu	37	chr19	5231449	5231449	+	Frame_Shift_Del	DEL	G	G	-													gcaggatctgagtggtggtcGgggggatgccgttcacctcc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:5231449delG	uc002mbv.2	-	14	2261	c.2027delC	c.(2026-2028)CCGfs	p.P676fs	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Frame_Shift_Del_p.P663fs|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	676	Extracellular (Potential).|Fibronectin type-III 4.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		AGTGGTGGTCGGGGGGATGCC	0.667													-	5231449	G	-	5231449	7	5	8	1	0	1	0	1	0	0	0	0	12811	1116	39	0	3919	0	PTPRS	19	5231449	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	11455	5231449	53897534	1471	8493											
ACSBG2	81616	broad.mit.edu	37	chr19	6183243	6183243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgagtgagagctcgggaCcccacacgatatccaaccag	12	12	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:6183243C>T	uc002mef.1	+	10	1509	c.1282C>T	c.(1282-1284)CCC>TCC	p.P428S	ACSBG2_uc002mee.1_Missense_Mutation_p.P241S|ACSBG2_uc002meg.1_Missense_Mutation_p.P428S|ACSBG2_uc002meh.1_Missense_Mutation_p.P428S|ACSBG2_uc002mei.1_Missense_Mutation_p.P378S|ACSBG2_uc010xiz.1_Missense_Mutation_p.P428S	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	bubblegum-related acyl-CoA synthetase 2	428					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			ovary(1)	1						GAGCTCGGGACCCCACACGAT	0.552													T	6183243	C	T	6183243	3	4	8	1	0	0	0	0	1	0	0	0	174	507	18	4	1316	4	ACSBG2	19	6183243	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	951794	6183243	52945740	1472	8494											
GPR108	56927	broad.mit.edu	37	chr19	6732509	6732509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcgatgtagtacatgaCggcaaggccttcgatggggt	16	7	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:6732509C>T	uc002mfp.2	-	11	1031	c.985G>A	c.(985-987)GTC>ATC	p.V329I	GPR108_uc010duv.2_5'Flank|GPR108_uc002mfn.2_5'UTR|GPR108_uc002mfo.3_Missense_Mutation_p.V87I|GPR108_uc010duw.2_RNA	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108 isoform 1	329						integral to membrane					0						TAGTACATGACGGCAAGGCCT	0.632													T	6732509	C	T	6732509	3	4	8	1	0	0	0	0	1	0	0	0	6624	536	19	1	678	1	GPR108	19	6732509	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	549266	6732509	52396474	1473	8495											
VAV1	7409	broad.mit.edu	37	chr19	6821674	6821674	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcctggaccccgatcgcCcagaacagggggatcatgtg	13	13	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:6821674C>A	uc002mfu.1	+	3	460	c.363C>A	c.(361-363)GCC>GCA	p.A121A	VAV1_uc010xjh.1_Silent_p.A121A|VAV1_uc010dva.1_Silent_p.A121A|VAV1_uc002mfv.1_Silent_p.A66A	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	121					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						CCCCGATCGCCCAGAACAGGG	0.637													A	6821674	C	A	6821674	2	1	8	1	0	0	0	0	0	0	0	1	17128	610	22	5		5	VAV1	19	6821674	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	89165	6821674	52307309	1474	8496											
MUC16	94025	broad.mit.edu	37	chr19	9011368	9011368	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agggtgtaggggcccagctcTttgatgccatgggtcagctg	16	9	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:9011368T>G	uc002mkp.2	-	36	39069	c.38865A>C	c.(38863-38865)AAA>AAC	p.K12955N	MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12957	SEA 6.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGCCCAGCTCTTTGATGCCAT	0.547													G	9011368	T	G	9011368	3	3	8	1	0	0	0	0	1	0	0	0	9973	1606	56	5	4854	5	MUC16	19	9011368	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	2189694	9011368	50117615	1475	8497											
MUC16	94025	broad.mit.edu	37	chr19	9087335	9087335	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagttcatgagaaggtgTggacataggtggaaaaatag	14	2	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:9087335T>C	uc002mkp.2	-	1	4684	c.4480A>G	c.(4480-4482)ACA>GCA	p.T1494A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1494	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGAGAAGGTGTGGACATAGGT	0.428													C	9087335	T	C	9087335	3	2	8	1	0	0	0	0	1	0	0	0	9973	1696	59	3	39379	3	MUC16	19	9087335	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	75967	9087335	50041648	1476	8498											
OR7D2	162998	broad.mit.edu	37	chr19	9296531	9296531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggatccagaactacagcCgttcatatttgggctgttcc	10	10	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:9296531C>T	uc002mkz.1	+	1	262	c.74C>T	c.(73-75)CCG>CTG	p.P25L		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D,	25	Extracellular (Potential).				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|upper_aerodigestive_tract(1)	3						GAACTACAGCCGTTCATATTT	0.498													T	9296531	C	T	9296531	3	4	8	1	0	0	0	0	1	0	0	0	11219	652	23	1	76	1	OR7D2	19	9296531	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	209196	9296531	49832452	1477	8499											
OLFM2	93145	broad.mit.edu	37	chr19	9965414	9965414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggagccgttgtacaccacGtggcccgtgcccgcccacgg	14	16	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:9965414G>A	uc002mmp.2	-	6	841	c.813C>T	c.(811-813)CAC>CAT	p.H271H	OLFM2_uc002mmo.2_Silent_p.H193H	NM_058164	NP_477512	O95897	NOE2_HUMAN	olfactomedin 2 precursor	271	Olfactomedin-like.					extracellular region				large_intestine(1)|skin(1)	2						TGTACACCACGTGGCCCGTGC	0.607													A	9965414	G	A	9965414	2	1	8	1	0	0	0	0	0	0	0	1	10853	1136	40	1		1	OLFM2	19	9965414	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	668883	9965414	49163569	1478	8500											
ICAM1	3383	broad.mit.edu	37	chr19	10394931	10394931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggacgagggcacccagcGgctgacgtgtgcagtaatac	15	10	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:10394931G>A	uc002mnq.2	+	4	1179	c.860G>A	c.(859-861)CGG>CAG	p.R287Q	ICAM1_uc010xle.1_Missense_Mutation_p.R65Q|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1 precursor	287	Ig-like C2-type 3.|Extracellular (Potential).				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	GGCACCCAGCGGCTGACGTGT	0.607													A	10394931	G	A	10394931	3	1	8	1	0	0	0	0	1	0	0	0	7479	1116	39	1	874	1	ICAM1	19	10394931	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	429517	10394931	48734052	1479	8501											
PDE4A	5141	broad.mit.edu	37	chr19	10568738	10568738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaacaactctaacattccccGatttggggtgaagaccgatc	9	11	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:10568738G>A	uc002moj.2	+	8	1169	c.1061G>A	c.(1060-1062)CGA>CAA	p.R354Q	PDE4A_uc002mok.2_Missense_Mutation_p.R328Q|PDE4A_uc002mol.2_Missense_Mutation_p.R293Q|PDE4A_uc002mom.2_Missense_Mutation_p.R115Q|PDE4A_uc002mon.2_Intron|PDE4A_uc002moo.2_5'Flank	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	phosphodiesterase 4A isoform 1	354	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	AACATTCCCCGATTTGGGGTG	0.577													A	10568738	G	A	10568738	3	1	8	1	0	0	0	0	1	0	0	0	11639	1058	37	1	1548	1	PDE4A	19	10568738	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	173807	10568738	48560245	1480	8502											
SMARCA4	6597	broad.mit.edu	37	chr19	11143999	11143999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaccgagcccaccgcatcGggcagcagaacgaggtgcgt	15	13	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:11143999G>A	uc002mqf.3	+	26	3864	c.3580G>A	c.(3580-3582)GGG>AGG	p.G1194R	SMARCA4_uc010dxp.2_Missense_Mutation_p.G1194R|SMARCA4_uc010dxo.2_Missense_Mutation_p.G1194R|SMARCA4_uc010dxq.2_Missense_Mutation_p.G1194R|SMARCA4_uc010dxr.2_Missense_Mutation_p.G1194R|SMARCA4_uc002mqj.3_Missense_Mutation_p.G1194R|SMARCA4_uc010dxs.2_Missense_Mutation_p.G1194R|SMARCA4_uc010dxt.1_Missense_Mutation_p.G414R|SMARCA4_uc002mqh.3_Missense_Mutation_p.G317R|SMARCA4_uc002mqi.1_Missense_Mutation_p.G397R	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1194	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCACCGCATCGGGCAGCAGAA	0.612			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				A	11143999	G	A	11143999	3	1	8	1	0	0	0	0	1	0	0	0	14770	1116	39	1	3678	1	SMARCA4	19	11143999	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	575261	11143999	47984984	1481	8503											
DOCK6	57572	broad.mit.edu	37	chr19	11312679	11312679	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccgtgtgcgcgcccatcCggcgtgaacggcgtgcagaa	14	15	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:11312679C>T	uc002mqs.3	-	44	5615	c.5574G>A	c.(5572-5574)CCG>CCA	p.P1858P	DOCK6_uc002mqr.3_Silent_p.P258P|DOCK6_uc010xlq.1_Silent_p.P1197P	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1858	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CGCGCCCATCCGGCGTGAACG	0.592													T	11312679	C	T	11312679	2	4	8	1	0	0	0	0	0	0	0	1	4691	639	23	1		1	DOCK6	19	11312679	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	168680	11312679	47816304	1482	8504											
DOCK6	57572	broad.mit.edu	37	chr19	11312758	11312758	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacccggtccttgagctcgTaggtatcaaagtacggttcc	10	12	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:11312758T>C	uc002mqs.3	-	44	5536	c.5495A>G	c.(5494-5496)TAC>TGC	p.Y1832C	DOCK6_uc002mqr.3_Missense_Mutation_p.Y232C|DOCK6_uc010xlq.1_Missense_Mutation_p.Y1171C	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1832	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CTTGAGCTCGTAGGTATCAAA	0.612													C	11312758	T	C	11312758	3	2	8	1	0	0	0	0	1	0	0	0	4691	1638	57	3	668	3	DOCK6	19	11312758	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	79	11312758	47816225	1483	8505											
ZNF799	90576	broad.mit.edu	37	chr19	12501739	12501739	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagtccttctatgttgagaAaggtattggaaacaactgaa	10	5	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:12501739A>G	uc010dyt.2	-	4	1623	c.1473T>C	c.(1471-1473)CTT>CTC	p.L491L	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	491	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						TATGTTGAGAAAGGTATTGGA	0.363													G	12501739	A	G	12501739	2	3	8	1	0	0	0	0	0	0	0	1	18163	1	1	3		3	ZNF799	19	12501739	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1188981	12501739	46627244	1484	8506											
CCDC105	126402	broad.mit.edu	37	chr19	15132473	15132473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaggggaactatcctcCggtgtacgaaatataaccaa	10	8	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:15132473C>T	uc002nae.2	+	5	1186	c.1087C>T	c.(1087-1089)CGG>TGG	p.R363W		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	363					microtubule cytoskeleton organization	microtubule				ovary(1)	1						AACTATCCTCCGGTGTACGAA	0.587													T	15132473	C	T	15132473	3	4	8	1	0	0	0	0	1	0	0	0	2740	643	23	1	1105	1	CCDC105	19	15132473	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2630734	15132473	43996510	1485	8507											
EPHX3	79852	broad.mit.edu	37	chr19	15342161	15342161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcaagtccacagccacaaCatggaagcggctctggaact	10	13	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:15342161C>T	uc002nap.2	-	3	585	c.376G>A	c.(376-378)GTT>ATT	p.V126I	EPHX3_uc002naq.2_Missense_Mutation_p.V126I	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	abhydrolase domain containing 9 precursor	126						extracellular region	hydrolase activity				0						ACAGCCACAACATGGAAGCGG	0.617													T	15342161	C	T	15342161	3	4	8	1	0	0	0	0	1	0	0	0	5181	478	17	4	726	4	EPHX3	19	15342161	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	209688	15342161	43786822	1486	8508											
WIZ	58525	broad.mit.edu	37	chr19	15538021	15538021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggggctgcccggtggtgGtggcaacttcttggccaagg	18	10	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:15538021G>A	uc002nbc.2	-	4	1398	c.1375C>T	c.(1375-1377)CCA>TCA	p.P459S	WIZ_uc002nba.3_Missense_Mutation_p.P326S|WIZ_uc002nbb.3_Missense_Mutation_p.P285S	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	1142	Pro-rich.					nucleus	zinc ion binding				0						CCCGGTGGTGGTGGCAACTTC	0.652													A	15538021	G	A	15538021	3	1	8	1	0	0	0	0	1	0	0	0	17372	1261	44	4	1551	4	WIZ	19	15538021	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	195860	15538021	43590962	1487	8509											
C19orf44	84167	broad.mit.edu	37	chr19	16612314	16612314	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaaaacacgaatcaaggCttcagcagcgctaacgtcag	9	10	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:16612314C>A	uc002neh.1	+	2	784	c.711C>A	c.(709-711)GGC>GGA	p.G237G	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Silent_p.G237G|C19orf44_uc002neg.2_Silent_p.G237G|C19orf44_uc010eai.1_RNA	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	hypothetical protein LOC84167	237											0						CGAATCAAGGCTTCAGCAGCG	0.318													A	16612314	C	A	16612314	2	1	8	1	0	0	0	0	0	0	0	1	1927	784	28	5		5	C19orf44	19	16612314	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1074293	16612314	42516669	1488	8510											
SLC35E1	79939	broad.mit.edu	37	chr19	16677452	16677452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccggagatggtggatcCgtgaatctcgcaagacctgg	15	10	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:16677452C>T	uc010xph.1	-	4	665	c.647G>A	c.(646-648)CGG>CAG	p.R216Q	MED26_uc002nee.2_RNA|SLC35E1_uc002nem.1_Missense_Mutation_p.R216Q	NM_024881	NP_079157	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	216					transport	integral to membrane				ovary(1)|central_nervous_system(1)	2						ATGGTGGATCCGTGAATCTCG	0.542													T	16677452	C	T	16677452	3	4	8	1	0	0	0	0	1	0	0	0	14584	652	23	1	597	1	SLC35E1	19	16677452	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	65138	16677452	42451531	1489	8511											
TMEM38A	79041	broad.mit.edu	37	chr19	16790890	16790890	+	Frame_Shift_Del	DEL	G	G	-													tcctggctgatctgctccttGgggagccactgatcgattac					rs113811779		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:16790889_16790889TG>T	uc002nes.3	+	1	310	c.219_219TG>T	c.(217-219)cttfs	p.L73fs		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	73						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						ATCTGCTCCTTGGGGAGCCAC	0.617													-	16790890	G	-	16790890	7	5	8	1	0	1	0	1	0	0	0	0	16156	1348	47	0	226	0	TMEM38A	19	16790890	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	113438	16790890	42338093	1490	8512											
JAK3	3718	broad.mit.edu	37	chr19	17943458	17943458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgtttcacggccaccagGgcacctgtattgtcgcctag	11	13	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:17943458G>A	uc002nhn.3	-	19	2650	c.2550C>T	c.(2548-2550)GCC>GCT	p.A850A	JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Silent_p.A850A	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	850	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						CGGCCACCAGGGCACCTGTAT	0.592		2	Mis		acute megakaryocytic leukemia|								A	17943458	G	A	17943458	2	1	8	1	0	0	0	0	0	0	0	1	7939	1219	43	4		4	JAK3	19	17943458	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1152568	17943458	41185525	1491	8513											
KLHL26	55295	broad.mit.edu	37	chr19	18779089	18779089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgctgcccttccggcaGcacgagatgcagtctccgcg	13	15	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:18779089G>A	uc002njz.1	+	3	909	c.882G>A	c.(880-882)CAG>CAA	p.Q294Q		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	294										ovary(1)	1						CCTTCCGGCAGCACGAGATGC	0.662													A	18779089	G	A	18779089	2	1	8	1	0	0	0	0	0	0	0	1	8381	962	34	2		2	KLHL26	19	18779089	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	835631	18779089	40349894	1492	8514											
ARMC6	93436	broad.mit.edu	37	chr19	19165124	19165124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgagggaccagagcggCgttcaggtatgaagtccccc	14	11	1	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:19165124C>T	uc002nld.2	+	6	1365	c.1017C>T	c.(1015-1017)GGC>GGT	p.G339G	ARMC6_uc002nlc.2_Silent_p.G314G|ARMC6_uc010xql.1_Silent_p.G246G|ARMC6_uc002nle.2_Silent_p.G314G|ARMC6_uc010xqm.1_Silent_p.G339G	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	339	ARM 3.						protein binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			ACCAGAGCGGCGTTCAGGTAT	0.612											OREG0025376	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	19165124	C	T	19165124	2	4	8	1	0	0	0	0	0	0	0	1	955	755	27	1		1	ARMC6	19	19165124	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	386035	19165124	39963859	1493	8515											
GMIP	51291	broad.mit.edu	37	chr19	19747568	19747568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcgctgccgccacccacGctgtccacatcgctgcccgg	10	20	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:19747568G>A	uc002nnd.2	-	13	1392	c.1275C>T	c.(1273-1275)AGC>AGT	p.S425S	GMIP_uc010xrb.1_Silent_p.S425S|GMIP_uc010xrc.1_Silent_p.S422S	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	425					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						CGCCACCCACGCTGTCCACAT	0.637													A	19747568	G	A	19747568	2	1	8	1	0	0	0	0	0	0	0	1	6491	1078	38	1		1	GMIP	19	19747568	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	582444	19747568	39381415	1494	8516											
ZNF43	7594	broad.mit.edu	37	chr19	22002026	22002026	+	Splice_Site	DEL	A	A	-													cataaatgtcaatggtccctAaaaaaaacaacacatacaca							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383													-	22002026	A	-	22002026	8	5	8	1	0	1	0	1	0	0	1	0	17900	377	13	0		0	ZNF43	19	22002026	Splice_Site	DEL	A	TCGA-BR-4201-01A-01D-1126-08	2254458	22002026	37126957	1495	8517											
ZNF536	9745	broad.mit.edu	37	chr19	31039431	31039431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtcctcccagaggaagtccGagaaatctcagtatgaaccc	9	12	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:31039431G>A	uc002nsu.1	+	4	3043	c.2905G>A	c.(2905-2907)GAG>AAG	p.E969K	ZNF536_uc010edd.1_Missense_Mutation_p.E969K	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	969					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GAGGAAGTCCGAGAAATCTCA	0.592													A	31039431	G	A	31039431	3	1	8	1	0	0	0	0	1	0	0	0	17971	1059	37	1	2915	1	ZNF536	19	31039431	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	9037405	31039431	28089552	1496	8518											
TSHZ3	57616	broad.mit.edu	37	chr19	31769889	31769889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttcagcaccttctgggcGtcttccttcccttccatttc	5	17	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:31769889G>A	uc002nsy.3	-	2	875	c.810C>T	c.(808-810)GAC>GAT	p.D270D		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	270					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					CCTTCTGGGCGTCTTCCTTCC	0.512													A	31769889	G	A	31769889	2	1	8	1	0	0	0	0	0	0	0	1	16622	1136	40	1		1	TSHZ3	19	31769889	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	730458	31769889	27359094	1497	8519											
GPATCH1	55094	broad.mit.edu	37	chr19	33621034	33621034	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttttctgttttcttttccAggctgaaaagtcttccacta	5	10	4	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:33621034A>C	uc002nug.1	+	20	3080	c.2766_splice	c.e20-2	p.R922_splice	GPATCH1_uc002nuh.1_Splice_Site_p.R299_splice|WDR88_uc002nui.2_5'Flank	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1							catalytic step 2 spliceosome	nucleic acid binding			skin(1)	1	Esophageal squamous(110;0.137)					TTTCTTTTCCAGGCTGAAAAG	0.458													C	33621034	A	C	33621034	5	2	8	1	0	0	0	0	0	0	1	0	6590	202	7	5	2842	5	GPATCH1	19	33621034	Splice_Site	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1851145	33621034	25507949	1498	8520											
LRP3	4037	broad.mit.edu	37	chr19	33697607	33697607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagggcctcattccacccGtggaggactttcctgtctac	9	16	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:33697607G>A	uc010edh.2	+	6	1786	c.1693G>A	c.(1693-1695)GTG>ATG	p.V565M	LRP3_uc010xrp.1_3'UTR|LRP3_uc002nuk.3_Missense_Mutation_p.V439M	NM_002333	NP_002324	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein	565	Cytoplasmic (Potential).				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			pancreas(2)|ovary(1)	3	Esophageal squamous(110;0.137)					CATTCCACCCGTGGAGGACTT	0.677													A	33697607	G	A	33697607	3	1	8	1	0	0	0	0	1	0	0	0	8958	1145	40	1	1715	1	LRP3	19	33697607	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	76573	33697607	25431376	1499	8521											
GRAMD1A	57655	broad.mit.edu	37	chr19	35514416	35514416	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggtgcacaagtggaggCagatcctgcgggcctccgtg	17	10	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:35514416C>T	uc010xse.1	+	19	2184	c.2047C>T	c.(2047-2049)CAG>TAG	p.Q683*	GRAMD1A_uc002nxk.2_Nonsense_Mutation_p.Q672*|GRAMD1A_uc002nxl.2_Nonsense_Mutation_p.Q445*|GRAMD1A_uc010xsf.1_Nonsense_Mutation_p.Q684*|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Nonsense_Mutation_p.Q294*	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	683						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CAAGTGGAGGCAGATCCTGCG	0.667													T	35514416	C	T	35514416	4	4	8	1	0	0	0	0	0	1	0	0	6747	711	25	2	2121	2	GRAMD1A	19	35514416	Nonsense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1816809	35514416	23614567	1500	8522											
KRTDAP	388533	broad.mit.edu	37	chr19	35981334	35981334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccacggcaggaaggaccGggatcttcatggcgtcaagt	14	11	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:35981334G>A	uc002nzh.2	-	1	23	c.11C>T	c.(10-12)CCG>CTG	p.P4L		NM_207392	NP_997275	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	4					cell differentiation	extracellular region					0	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGGAAGGACCGGGATCTTCAT	0.597													A	35981334	G	A	35981334	3	1	8	1	0	0	0	0	1	0	0	0	8580	1116	39	1	312	1	KRTDAP	19	35981334	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	466918	35981334	23147649	1501	8523											
PRODH2	58510	broad.mit.edu	37	chr19	36290978	36290978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcctggcagcagccgccGccacagttcttggctgagca	12	15	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:36290978G>A	uc002obx.1	-	11	1591	c.1573C>T	c.(1573-1575)CGG>TGG	p.R525W	uc002obw.1_5'Flank	NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	kidney and liver proline oxidase 1	525					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	p.R525W(1)		ovary(2)	2	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCAGCCGCCGCCACAGTTCT	0.617													A	36290978	G	A	36290978	3	1	8	1	0	0	0	0	1	0	0	0	12549	1086	38	1	41	1	PRODH2	19	36290978	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	309644	36290978	22838005	1502	8524											
ZNF527	84503	broad.mit.edu	37	chr19	37879513	37879513	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagaaagttcctaccataCagcaagtacataaatttgat	5	8	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:37879513C>T	uc010efk.1	+	5	673	c.562C>T	c.(562-564)CAG>TAG	p.Q188*	ZNF527_uc002ogf.3_Nonsense_Mutation_p.Q156*|ZNF527_uc010xtq.1_RNA	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	zinc finger protein 527	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCTACCATACAGCAAGTACA	0.338													T	37879513	C	T	37879513	4	4	8	1	0	0	0	0	0	1	0	0	17965	479	17	4	576	4	ZNF527	19	37879513	Nonsense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1588535	37879513	21249470	1503	8525											
SIPA1L3	23094	broad.mit.edu	37	chr19	38673271	38673271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttcagctctccgcctccGtccccaagtccttcttctcc	4	21	4	0	rs139858184	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:38673271G>A	uc002ohk.2	+	16	4830	c.4321G>A	c.(4321-4323)GTC>ATC	p.V1441I		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1441					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTCCGCCTCCGTCCCCAAGTC	0.622													A	38673271	G	A	38673271	3	1	8	1	0	0	0	0	1	0	0	0	14331	1145	40	1	4375	1	SIPA1L3	19	38673271	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	793758	38673271	20455712	1504	8526											
RYR1	6261	broad.mit.edu	37	chr19	38959976	38959976	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgcagcttgggacctggCcaggtgggtcatctgaacct	14	11	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:38959976C>T	uc002oit.2	+	27	3718	c.3588C>T	c.(3586-3588)GGC>GGT	p.G1196G	RYR1_uc002oiu.2_Silent_p.G1196G	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1196	6 X approximate repeats.|Cytoplasmic.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGGGACCTGGCCAGGTGGGTC	0.408													T	38959976	C	T	38959976	2	4	8	1	0	0	0	0	0	0	0	1	13768	726	26	2		2	RYR1	19	38959976	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	286705	38959976	20169007	1505	8527											
RYR1	6261	broad.mit.edu	37	chr19	38976392	38976392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcacgccctggaggaCgcgcacctgccaggcccact	12	18	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:38976392C>T	uc002oit.2	+	34	5227	c.5097C>T	c.(5095-5097)GAC>GAT	p.D1699D	RYR1_uc002oiu.2_Silent_p.D1699D	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1699	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCTGGAGGACGCGCACCTGC	0.657													T	38976392	C	T	38976392	2	4	8	1	0	0	0	0	0	0	0	1	13768	535	19	1		1	RYR1	19	38976392	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	16416	38976392	20152591	1506	8528											
RYR1	6261	broad.mit.edu	37	chr19	38993326	38993326	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgttcgctcaccaaggcGcagcgtgacgtcatcgagga	14	12	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:38993326G>A	uc002oit.2	+	48	7924	c.7794G>A	c.(7792-7794)GCG>GCA	p.A2598A	RYR1_uc002oiu.2_Silent_p.A2598A|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2598	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCACCAAGGCGCAGCGTGACG	0.512													A	38993326	G	A	38993326	2	1	8	1	0	0	0	0	0	0	0	1	13768	1074	38	1		1	RYR1	19	38993326	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	16934	38993326	20135657	1507	8529											
SPTBN4	57731	broad.mit.edu	37	chr19	40996007	40996007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccacgcgcggccgcatgcGgatccactcactggagaacg	13	16	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:40996007G>A	uc002ony.2	+	4	433	c.347G>A	c.(346-348)CGG>CAG	p.R116Q	SPTBN4_uc002onx.2_Missense_Mutation_p.R116Q|SPTBN4_uc002onz.2_Missense_Mutation_p.R116Q	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	116	CH 1.|Actin-binding.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCCGCATGCGGATCCACTCA	0.662													A	40996007	G	A	40996007	3	1	8	1	0	0	0	0	1	0	0	0	15120	1116	39	1	357	1	SPTBN4	19	40996007	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2002681	40996007	18132976	1508	8530											
BCKDHA	593	broad.mit.edu	37	chr19	41919965	41919967	+	In_Frame_Del	DEL	CTT	CTT	-													cacccccagggccggatctcCttctacatgaccaactatgg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:41919964_41919966CCTT>C	uc002oqq.3	+	3	425_427	c.386_388CCTT>C	c.(385-390)tccttc>tCtc	p.F130del	BCKDHA_uc002oqm.4_In_Frame_Del_p.F164del|BCKDHA_uc002oqp.2_In_Frame_Del_p.F22del|BCKDHA_uc002oqr.3_In_Frame_Del_p.F130del|BCKDHA_uc010xvz.2_In_Frame_Del_p.F108del	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	130					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GGCCGGATCTCCTTCTACATGAC	0.611													-	41919967	CTT	-	41919965	7	5	8	1	0	1	0	1	0	0	0	0	1359	668	24	0	401	0	BCKDHA	19	41919965	In_Frame_Del	DEL	CTT	TCGA-BR-4201-01A-01D-1126-08	923958	41919965	17209018	1509	8531											
CEACAM7	1087	broad.mit.edu	37	chr19	42190985	42190985	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttacatatcctataattcGatagttggcatgcacccttt	5	9	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:42190985G>A	uc002ori.1	-	2	234	c.232C>T	c.(232-234)CGA>TGA	p.R78*	CEACAM7_uc010ehx.2_Nonsense_Mutation_p.R78*|CEACAM7_uc010ehy.1_Nonsense_Mutation_p.R78*	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion	78	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CCTATAATTCGATAGTTGGCA	0.458													A	42190985	G	A	42190985	4	1	8	1	0	0	0	0	0	1	0	0	3197	1066	37	1	577	1	CEACAM7	19	42190985	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	271020	42190985	16937998	1510	8532											
CIC	23152	broad.mit.edu	37	chr19	42797150	42797150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggcccccaaggcccagcGgcccagcccgaaggcccccc	12	21	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:42797150G>A	uc002otf.1	+	15	3552	c.3512G>A	c.(3511-3513)CGG>CAG	p.R1171Q		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1171	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				AAGGCCCAGCGGCCCAGCCCG	0.652			T	DUX4	soft tissue sarcoma								A	42797150	G	A	42797150	3	1	8	1	0	0	0	0	1	0	0	0	3424	1116	39	1	3570	1	CIC	19	42797150	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	606165	42797150	16331833	1511	8533											
LIPE	3991	broad.mit.edu	37	chr19	42909697	42909697	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggtctgagttggagtgGtcctccgtctttgcacctgc	12	11	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:42909697G>A	uc002otr.2	-	8	2659	c.2382C>T	c.(2380-2382)GAC>GAT	p.D794D	uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	794					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				AGTTGGAGTGGTCCTCCGTCT	0.587													A	42909697	G	A	42909697	2	1	8	1	0	0	0	0	0	0	0	1	8821	1252	44	4		4	LIPE	19	42909697	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	112547	42909697	16219286	1512	8534											
BCAM	4059	broad.mit.edu	37	chr19	45315631	45315631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactgctgaggccactgCgcggctcaacgtgtttggta	14	11	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:45315631C>T	uc002ozu.2	+	3	460	c.416C>T	c.(415-417)GCG>GTG	p.A139V	BCAM_uc002ozt.1_Missense_Mutation_p.A139V	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	139	Extracellular (Potential).|Ig-like V-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GAGGCCACTGCGCGGCTCAAC	0.682													T	45315631	C	T	45315631	3	4	8	1	0	0	0	0	1	0	0	0	1344	768	27	1	426	1	BCAM	19	45315631	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2405934	45315631	13813352	1513	8535											
BCAM	4059	broad.mit.edu	37	chr19	45321843	45321843	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctctaaacagcagtgcagtCgtgaactgctccgtgcacgg	11	13	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:45321843C>T	uc002ozu.2	+	9	1187	c.1143C>T	c.(1141-1143)GTC>GTT	p.V381V	BCAM_uc002ozt.1_Silent_p.V381V	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	381	Extracellular (Potential).|Ig-like C2-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GCAGTGCAGTCGTGAACTGCT	0.647													T	45321843	C	T	45321843	2	4	8	1	0	0	0	0	0	0	0	1	1344	871	31	1		1	BCAM	19	45321843	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	6212	45321843	13807140	1514	8536											
PNMAL1	55228	broad.mit.edu	37	chr19	46974273	46974273	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaatcctccagaaggttcAtcgccatggtcttggacatt	8	12	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:46974273A>G	uc002peq.3	-	2	326	c.20T>C	c.(19-21)ATG>ACG	p.M7T	PNMAL1_uc002per.3_Missense_Mutation_p.M7T	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	PNMA-like 1 isoform a	7											0		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		cagaaggttcatcgccatggt	0													G	46974273	A	G	46974273	3	3	8	1	0	0	0	0	1	0	0	0	12157	217	8	3	1329	3	PNMAL1	19	46974273	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1652430	46974273	12154710	1515	8537											
NTN5	126147	broad.mit.edu	37	chr19	49173894	49173894	+	Frame_Shift_Del	DEL	C	C	-													ggaaggtcaccctttcagggCcccctaaggccccaggccag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:49173894delC	uc002pkb.2	-	2	446	c.350delG	c.(349-351)GGCfs	p.G117fs	SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|NTN5_uc002pkc.2_Frame_Shift_Del_p.G117fs	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN	netrin 5 precursor	117						extracellular region				large_intestine(1)|pancreas(1)	2						CCTTTCAGGGCCCCCTAAGGC	0.701													-	49173894	C	-	49173894	7	5	8	1	0	1	0	1	0	0	0	0	10703	739	26	0	1143	0	NTN5	19	49173894	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	2199621	49173894	9955089	1516	8538											
IZUMO1	284359	broad.mit.edu	37	chr19	49244679	49244679	+	Frame_Shift_Del	DEL	C	C	-													ggacgactccgtggtcgcctCccccggggttacgatatttg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:49244678_49244678TC>T	uc002pkj.3	-	8	1360	c.812_812GA>A	c.(811-813)gagfs	p.E271fs	RASIP1_uc002pki.3_5'Flank|IZUMO1_uc010eme.3_Non-coding_Transcript|IZUMO1_uc010emf.3_Non-coding_Transcript	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN	Homo sapiens izumo sperm-egg fusion 1 (IZUMO1), mRNA.	271					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CGTGGTCGCCTCCCCCGGGGT	0.572													-	49244679	C	-	49244679	7	5	8	1	0	1	0	1	0	0	0	0	7933	864	30	0	249	0	IZUMO1	19	49244679	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	70785	49244679	9884304	1517	8539											
PRR12	57479	broad.mit.edu	37	chr19	50118249	50118249	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcggaaaccctggcatcgGcccccagtgccagtcaggta	12	15	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:50118249G>A	uc002poo.3	+	8	5007	c.5007G>A	c.(5005-5007)CGG>CGA	p.R1669R		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	848	Pro-rich.						DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCTGGCATCGGCCCCCAGTGC	0.517													A	50118249	G	A	50118249	2	1	8	1	0	0	0	0	0	0	0	1	12584	1190	42	2		2	PRR12	19	50118249	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	873570	50118249	9010734	1518	8540											
PRR12	57479	broad.mit.edu	37	chr19	50123625	50123625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagagcgggcagtacctggGcgtctgctcaaaaccagggc	15	12	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:50123625G>A	uc002poo.3	+	10	5514	c.5514G>A	c.(5512-5514)GGG>GGA	p.G1838G		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	1017							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CAGTACCTGGGCGTCTGCTCA	0.458													A	50123625	G	A	50123625	2	1	8	1	0	0	0	0	0	0	0	1	12584	1190	42	2		2	PRR12	19	50123625	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	5376	50123625	9005358	1519	8541											
PRR12	57479	broad.mit.edu	37	chr19	50124783	50124783	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgtcctcgtccatcagaCgagctgtacctgccccccat	7	18	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:50124783C>T	uc002poo.3	+	11	5625	c.5625C>T	c.(5623-5625)GAC>GAT	p.D1875D		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	1054							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GTCCATCAGACGAGCTGTACC	0.512													T	50124783	C	T	50124783	2	4	8	1	0	0	0	0	0	0	0	1	12584	550	19	1		1	PRR12	19	50124783	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1158	50124783	9004200	1520	8542											
VRK3	51231	broad.mit.edu	37	chr19	50482461	50482461	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcggcttctcctcatacgTgagggccatcaccaccttca	10	15	4	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:50482461T>C	uc002prg.2	-	14	1413	c.1315A>G	c.(1315-1317)ACG>GCG	p.T439A	VRK3_uc002prh.1_Missense_Mutation_p.T439A|VRK3_uc002pri.1_Missense_Mutation_p.T389A|VRK3_uc010ens.2_Missense_Mutation_p.T439A|VRK3_uc010ybl.1_Missense_Mutation_p.T389A|VRK3_uc010ybm.1_Missense_Mutation_p.T208A	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	vaccinia related kinase 3 isoform 1	439	Protein kinase.					nucleus	ATP binding|protein kinase activity			stomach(1)|skin(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TCCTCATACGTGAGGGCCATC	0.582													C	50482461	T	C	50482461	3	2	8	1	0	0	0	0	1	0	0	0	17218	1696	59	3	113	3	VRK3	19	50482461	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	357678	50482461	8646522	1521	8543											
MYH14	79784	broad.mit.edu	37	chr19	50726368	50726368	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccagtccattctctgcacGtgagtaatctggaaggactt	10	10	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:50726368G>A	uc002prr.1	+	4	637	c.590_splice	c.e4+1	p.T197_splice	MYH14_uc010enu.1_Splice_Site_p.T197_splice|MYH14_uc002prq.1_Splice_Site_p.T197_splice	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2						axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TTCTCTGCACGTGAGTAATCT	0.572													A	50726368	G	A	50726368	5	1	8	1	0	0	0	0	0	0	1	0	10033	1159	40	1	601	1	MYH14	19	50726368	Splice_Site	SNP	G	TCGA-BR-4201-01A-01D-1126-08	243907	50726368	8402615	1522	8544											
NAPSA	9476	broad.mit.edu	37	chr19	50864954	50864954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcaggattccatctaccCgcccagttccatattgaatg	7	14	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:50864954C>T	uc002prx.2	-	4	487	c.434G>A	c.(433-435)CGG>CAG	p.R145Q	NR1H2_uc002prv.3_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	napsin A preproprotein	145					proteolysis	extracellular region	aspartic-type endopeptidase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TCCATCTACCCGCCCAGTTCC	0.517													T	50864954	C	T	50864954	3	4	8	1	0	0	0	0	1	0	0	0	10166	652	23	1	852	1	NAPSA	19	50864954	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	138586	50864954	8264029	1523	8545											
SPIB	6689	broad.mit.edu	37	chr19	50926203	50926203	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctacgaaccccccacctAcagccctgcagggaacctcg	8	19	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:50926203A>G	uc002psd.2	+	4	273	c.248A>G	c.(247-249)TAC>TGC	p.Y83C	SPIB_uc002pse.2_Missense_Mutation_p.Y83C|SPIB_uc010ycc.1_Intron	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	83					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			lung(1)|kidney(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCCCCCACCTACAGCCCTGCA	0.682													G	50926203	A	G	50926203	3	3	8	1	0	0	0	0	1	0	0	0	15049	391	14	3	262	3	SPIB	19	50926203	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	61249	50926203	8202780	1524	8546											
LIM2	3982	broad.mit.edu	37	chr19	51883795	51883795	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcactgccacccagcccaGgatgtaggaccaggaaaagc	12	13	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:51883795G>T	uc002pwm.2	-	4	468	c.424C>A	c.(424-426)CTG>ATG	p.L142M	LIM2_uc002pwl.2_Missense_Mutation_p.L184M	NM_001161748	NP_001155220	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa isoform	142	Helical; (Potential).				cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens				0		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		ACCCAGCCCAGGATGTAGGAC	0.612													T	51883795	G	T	51883795	3	4	8	1	0	0	0	0	1	0	0	0	8795	991	35	5	105	5	LIM2	19	51883795	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	957592	51883795	7245188	1525	8547											
FPR3	2359	broad.mit.edu	37	chr19	52328045	52328045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcacctcctgaggagacGgagttacaagcaatgtgagg	13	9	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:52328045G>A	uc002pxt.1	+	2	1228	c.1044G>A	c.(1042-1044)ACG>ACA	p.T348T		NM_002030	NP_002021	P25089	FPR3_HUMAN	formyl peptide receptor-like 2	348	Cytoplasmic (Potential).				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.T348M(1)		lung(4)|breast(1)|skin(1)	6						CTGAGGAGACGGAGTTACAAG	0.458													A	52328045	G	A	52328045	2	1	8	1	0	0	0	0	0	0	0	1	6040	1103	39	1		1	FPR3	19	52328045	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	444250	52328045	6800938	1526	8548											
ZNF350	59348	broad.mit.edu	37	chr19	52471832	52471832	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgtgggttctctcaccTgaacaggctccactgtggat	11	11	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:52471832T>C	uc002pyd.2	-	4	465	c.237A>G	c.(235-237)TCA>TCG	p.S79S	uc002pyb.2_Intron|uc002pyc.2_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	79	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(1)	1		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TTCTCTCACCTGAACAGGCTC	0.478													C	52471832	T	C	52471832	2	2	8	1	0	0	0	0	0	0	0	1	17860	1594	55	3		3	ZNF350	19	52471832	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	143787	52471832	6657151	1527	8549											
PPP2R1A	5518	broad.mit.edu	37	chr19	52719049	52719049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctccagaaagcagtgggGcctgagatcaccaagacaga	12	11	1	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:52719049G>A	uc002pyp.2	+	7	984	c.825G>A	c.(823-825)GGG>GGA	p.G275G	PPP2R1A_uc010ydk.1_Silent_p.G220G|PPP2R1A_uc010epm.1_Silent_p.G315G|PPP2R1A_uc002pyq.2_Silent_p.G96G	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	275	HEAT 7.|PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		AAGCAGTGGGGCCTGAGATCA	0.483			Mis		clear cell ovarian carcinoma								A	52719049	G	A	52719049	2	1	8	1	0	0	0	0	0	0	0	1	12382	1190	42	2		2	PPP2R1A	19	52719049	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	247217	52719049	6409934	1528	8550											
ZNF331	55422	broad.mit.edu	37	chr19	54080491	54080491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggaaaggcctttcggcGtggtgatgagctcactcagc	14	10	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:54080491G>A	uc002qbx.1	+	7	2111	c.677G>A	c.(676-678)CGT>CAT	p.R226H	ZNF331_uc002qby.1_Missense_Mutation_p.R226H|ZNF331_uc002qbz.1_Missense_Mutation_p.R226H|ZNF331_uc002qca.1_Missense_Mutation_p.R226H|ZNF331_uc010eqr.1_Missense_Mutation_p.R226H|ZNF331_uc002qcb.1_Missense_Mutation_p.R226H|ZNF331_uc002qcc.1_Missense_Mutation_p.R226H|ZNF331_uc002qcd.1_Missense_Mutation_p.R226H	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	226	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6				GBM - Glioblastoma multiforme(134;0.00555)		GCCTTTCGGCGTGGTGATGAG	0.463			T	?	follicular thyroid adenoma								A	54080491	G	A	54080491	3	1	8	1	0	0	0	0	1	0	0	0	17846	1145	40	1	687	1	ZNF331	19	54080491	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1361442	54080491	5048492	1529	8551											
VSTM1	284415	broad.mit.edu	37	chr19	54567029	54567029	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agggagaggaattctgcggtCatagcgtcccttctgccaga	13	10	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:54567029C>T	uc002qcw.3	-	1	179	c.3G>A	c.(1-3)ATG>ATA	p.M1I	VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Missense_Mutation_p.M1I	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	1						integral to membrane					0	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		ATTCTGCGGTCATAGCGTCCC	0.622													T	54567029	C	T	54567029	3	4	8	1	0	0	0	0	1	0	0	0	17225	826	29	4	743	4	VSTM1	19	54567029	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	486538	54567029	4561954	1530	8552											
MBOAT7	79143	broad.mit.edu	37	chr19	54678002	54678002	+	Frame_Shift_Del	DEL	C	C	-													tggccccctgggctcagccgCccccgcagggctgactccag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:54678001_54678001GC>G	uc002qdq.3	-	8	1422	c.1156_1156GC>C	c.(1156-1158)cggfs	p.R386fs	TMC4_uc002qdo.3_5'Flank|TMC4_uc010erf.3_5'Flank|MBOAT7_uc010erg.3_Frame_Shift_Del_p.R70fs|MBOAT7_uc010yem.2_Frame_Shift_Del_p.R368fs|MBOAT7_uc002qdr.3_Frame_Shift_Del_p.R386fs|MBOAT7_uc002qds.3_Frame_Shift_Del_p.R313fs|MBOAT7_uc010yen.2_Frame_Shift_Del_p.R313fs	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 7 (MBOAT7), transcript variant 1, mRNA.	386					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGGCTCAGCCGCCCCCGCAGG	0.672													-	54678002	C	-	54678002	7	5	8	1	0	1	0	1	0	0	0	0	9358	726	26	0	267	0	MBOAT7	19	54678002	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	110973	54678002	4450981	1531	8553											
LENG9	94059	broad.mit.edu	37	chr19	54973946	54973946	+	Frame_Shift_Del	DEL	C	C	-													ccagggcctgtgcttccttgCcccccagcaatgtggtcctg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:54973945_54973945GC>G	uc010yez.2	-	0	950	c.831_831GC>C	c.(829-831)ggcfs	p.G277fs		NM_198988	NP_945339	Q96B70	LENG9_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 9 (LENG9), mRNA.	277					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GTGCTTCCTTGCCCCCCAGCA	0.662													-	54973946	C	-	54973946	7	5	8	1	0	1	0	1	0	0	0	0	8725	739	26	0	679	0	LENG9	19	54973946	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	295944	54973946	4155037	1532	8554											
LILRB4	11006	broad.mit.edu	37	chr19	55177749	55177749	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgagccagagcccaaggaCgggggcctacagaggaggta	17	11	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:55177749C>T	uc002qgp.2	+	8	1295	c.933C>T	c.(931-933)GAC>GAT	p.D311D	LILRB4_uc002qgq.2_Silent_p.D311D|LILRB4_uc002qgr.2_Silent_p.D352D|LILRB4_uc010ert.2_Silent_p.D352D|LILRB4_uc010eru.2_Silent_p.D340D	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor,	311	Cytoplasmic (Potential).					integral to membrane|plasma membrane	antigen binding|receptor activity			ovary(3)	3				GBM - Glioblastoma multiforme(193;0.035)		AGCCCAAGGACGGGGGCCTAC	0.602													T	55177749	C	T	55177749	2	4	8	1	0	0	0	0	0	0	0	1	8793	535	19	1		1	LILRB4	19	55177749	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	203803	55177749	3951234	1533	8555											
NLRP2	55655	broad.mit.edu	37	chr19	55481397	55481397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacaagatggtgtcttcggCgcagatgggcttcaacctgc	14	10	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:55481397C>T	uc002qij.2	+	2	100	c.14C>T	c.(13-15)GCG>GTG	p.A5V	NLRP2_uc010yfp.1_Missense_Mutation_p.A5V|NLRP2_uc010esn.2_Missense_Mutation_p.A5V|NLRP2_uc010eso.2_Missense_Mutation_p.A5V|NLRP2_uc010esp.2_Missense_Mutation_p.A5V	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	5	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTGTCTTCGGCGCAGATGGGC	0.547													T	55481397	C	T	55481397	3	4	8	1	0	0	0	0	1	0	0	0	10477	768	27	1	16	1	NLRP2	19	55481397	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	303648	55481397	3647586	1534	8556											
ZNF835	90485	broad.mit.edu	37	chr19	57176390	57176390	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgatatggttcttgggatTcggctgaattcatcgcgttc	11	9	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:57176390T>C	uc010ygo.1	-	2	243	c.243A>G	c.(241-243)CGA>CGG	p.R81R	ZNF835_uc010ygn.1_Silent_p.R59R	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						TTCTTGGGATTCGGCTGAATT	0.622													C	57176390	T	C	57176390	2	2	8	1	0	0	0	0	0	0	0	1	18183	1770	62	3		3	ZNF835	19	57176390	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	1694993	57176390	1952593	1535	8557											
ZIM2	23619	broad.mit.edu	37	chr19	57286130	57286130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaggtatgagggtcggcCgaaacatttcccacatagct	12	9	0	2	rs138640675		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:57286130C>T	uc002qnr.2	-	11	1892	c.1510G>A	c.(1510-1512)GGC>AGC	p.G504S	uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.G300S|ZIM2_uc010ygr.1_Missense_Mutation_p.G300S|ZIM2_uc002qnq.2_Missense_Mutation_p.G504S|ZIM2_uc010etp.2_Missense_Mutation_p.G504S|ZIM2_uc010ygs.1_Missense_Mutation_p.G504S	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	504	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GAGGGTCGGCCGAAACATTTC	0.443													T	57286130	C	T	57286130	3	4	8	1	0	0	0	0	1	0	0	0	17681	652	23	1	77	1	ZIM2	19	57286130	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	109740	57286130	1842853	1536	8558											
ZNF543	125919	broad.mit.edu	37	chr19	57839233	57839233	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaatgcaagaagtccacTtgaaaatagggataggcccc	10	9	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:57839233T>C	uc002qoi.1	+	4	748	c.403T>C	c.(403-405)TTG>CTG	p.L135L		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGAAGTCCACTTGAAAATAGG	0.478													C	57839233	T	C	57839233	2	2	8	1	0	0	0	0	0	0	0	1	17973	1606	56	3		3	ZNF543	19	57839233	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	553103	57839233	1289750	1537	8559											
ZNF749	388567	broad.mit.edu	37	chr19	57956447	57956447	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaccttatgagtgtagtgAatgtgggaaattttttagag	12	2	0	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:57956447A>G	uc002qoq.2	+	3	2185	c.1931A>G	c.(1930-1932)GAA>GGA	p.E644G	ZNF547_uc002qpm.3_Intron	NM_001023561	NP_001018855	O43361	ZN749_HUMAN	zinc finger protein 749	644	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GAGTGTAGTGAATGTGGGAAA	0.373													G	57956447	A	G	57956447	3	3	8	1	0	0	0	0	1	0	0	0	18128	246	9	3	1941	3	ZNF749	19	57956447	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	117214	57956447	1172536	1538	8560											
ZNF772	400720	broad.mit.edu	37	chr19	57985255	57985255	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcctttctccagtgtggactCtctggtgttgaacaagtgag	12	9	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:57985255C>A	uc002qot.2	-	5	1118	c.857G>T	c.(856-858)AGA>ATA	p.R286I	ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Missense_Mutation_p.R245I|ZNF772_uc010ygz.1_Missense_Mutation_p.R174I|ZNF772_uc010yha.1_Missense_Mutation_p.R232I|ZNF772_uc002qou.2_Missense_Mutation_p.R174I	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	zinc finger protein 772 isoform 1	286	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		AGTGTGGACTCTCTGGTGTTG	0.488													A	57985255	C	A	57985255	3	1	8	1	0	0	0	0	1	0	0	0	18142	913	32	5	616	5	ZNF772	19	57985255	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	28808	57985255	1143728	1539	8561											
ZNF552	79818	broad.mit.edu	37	chr19	58319993	58319993	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtttcatgcatcctccacaGctgtaatggctttttccccc	6	14	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:58319993G>T	uc002qqg.2	-	3	809	c.639C>A	c.(637-639)AGC>AGA	p.S213R	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Missense_Mutation_p.S209R	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	zinc finger protein 552	213	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ATCCTCCACAGCTGTAATGGC	0.473													T	58319993	G	T	58319993	3	4	8	1	0	0	0	0	1	0	0	0	17981	962	34	5	588	5	ZNF552	19	58319993	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	334738	58319993	808990	1540	8562											
ZNF606	80095	broad.mit.edu	37	chr19	58490096	58490096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatttattgcattcatagGgtttttctccagtatgagtc	7	8	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:58490096G>A	uc002qqw.2	-	7	2570	c.1952C>T	c.(1951-1953)CCC>CTC	p.P651L	ZNF606_uc010yhp.1_Missense_Mutation_p.P561L	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GCATTCATAGGGTTTTTCTCC	0.398													A	58490096	G	A	58490096	3	1	8	1	0	0	0	0	1	0	0	0	18029	1232	43	4	430	4	ZNF606	19	58490096	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	170103	58490096	638887	1541	8563											
ZSCAN1	284312	broad.mit.edu	37	chr19	58564966	58564966	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaggaacactgaccagagCggccgccaccagccatccct	9	17	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:58564966C>T	uc002qrc.1	+	6	1021	c.774C>T	c.(772-774)AGC>AGT	p.S258S		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	258					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTGACCAGAGCGGCCGCCACC	0.632													T	58564966	C	T	58564966	2	4	8	1	0	0	0	0	0	0	0	1	18223	767	27	1		1	ZSCAN1	19	58564966	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	74870	58564966	564017	1542	8564											
ZNF274	10782	broad.mit.edu	37	chr19	58724502	58724502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaaagaagaaacagcctaCctcatagctctcaagccagt	8	12	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:58724502C>T	uc002qrq.1	+	10	2414	c.1955C>T	c.(1954-1956)ACC>ATC	p.T652I	ZNF274_uc002qrr.1_Missense_Mutation_p.T620I|ZNF274_uc002qrs.1_Missense_Mutation_p.T547I|ZNF274_uc010eum.1_Missense_Mutation_p.T411I	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	zinc finger protein 274 isoform c	652					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		AAACAGCCTACCTCATAGCTC	0.463													T	58724502	C	T	58724502	3	4	8	1	0	0	0	0	1	0	0	0	17806	507	18	4	1980	4	ZNF274	19	58724502	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	159536	58724502	404481	1543	8565											
ZBTB45	84878	broad.mit.edu	37	chr19	59028801	59028801	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaactctaccagctgtcgCactgtctgcgcgggcaccac	11	15	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:59028801C>T	uc002qtd.2	-	2	532	c.240G>A	c.(238-240)GTG>GTA	p.V80V	ZBTB45_uc002qte.2_Silent_p.V80V|ZBTB45_uc002qtf.2_Silent_p.V80V	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	80	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CCAGCTGTCGCACTGTCTGCG	0.647											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	59028801	C	T	59028801	2	4	8	1	0	0	0	0	0	0	0	1	17543	697	25	2		2	ZBTB45	19	59028801	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	304299	59028801	100182	1544	8566											
TGM3	7053	broad.mit.edu	37	chr20	2308989	2308989	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgctcgcatggacgtcacGgacaagtacaagtacccaga	10	11	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:2308989G>A	uc002wfx.3	+	9	1408	c.1311G>A	c.(1309-1311)ACG>ACA	p.T437T		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	437					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	TGGACGTCACGGACAAGTACA	0.567													A	2308989	G	A	2308989	2	1	8	1	0	0	0	0	0	0	0	1	15828	1103	39	1		1	TGM3	20	2308989	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08		2308989	60716531	1545	8567											
FAM113A	64773	broad.mit.edu	37	chr20	2820491	2820491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctgctggacttccgagGcctggaagtggaccatgtcg	15	11	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:2820491G>A	uc002wgz.1	-	2	565	c.68C>T	c.(67-69)GCC>GTC	p.A23V	FAM113A_uc002whb.1_5'UTR|FAM113A_uc002wha.1_5'UTR|FAM113A_uc010zqa.1_5'UTR|FAM113A_uc002whc.1_Missense_Mutation_p.A23V|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	hypothetical protein LOC64773	23							hydrolase activity|protein binding			ovary(2)	2						GACTTCCGAGGCCTGGAAGTG	0.622													A	2820491	G	A	2820491	3	1	8	1	0	0	0	0	1	0	0	0	5401	1203	42	2	1324	2	FAM113A	20	2820491	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	511502	2820491	60205029	1546	8568											
SMOX	54498	broad.mit.edu	37	chr20	4167954	4167954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccggtgaggccacccaccGcaagtactattccaccaccc	7	18	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:4167954G>A	uc002wkm.1	+	7	1769	c.1568G>A	c.(1567-1569)CGC>CAC	p.R523H	SMOX_uc002wkk.1_Missense_Mutation_p.R500H|SMOX_uc002wkl.1_Missense_Mutation_p.R470H|SMOX_uc002wkn.1_Missense_Mutation_p.R158H|SMOX_uc002wkp.2_Missense_Mutation_p.R553H|SMOX_uc010zqo.1_Missense_Mutation_p.R447H|SMOX_uc002wko.1_Missense_Mutation_p.R523H	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	spermine oxidase isoform 1	523					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)	1					Spermine(DB00127)	GCCACCCACCGCAAGTACTAT	0.647													A	4167954	G	A	4167954	3	1	8	1	0	0	0	0	1	0	0	0	14803	1087	38	1	1684	1	SMOX	20	4167954	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1347463	4167954	58857566	1547	8569											
SLC23A2	9962	broad.mit.edu	37	chr20	4837735	4837736	+	Frame_Shift_Ins	INS	-	-	T													agtagctgaagcatctgtatINSttttttataatgttcatgcc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:4837734_4837735A>AT	uc002wlg.1	-	16	2211_2212	c.1836_1837T>AT	c.(1834-1839)aaatacfs	p.K612fs	SLC23A2_uc010zqr.1_Frame_Shift_Ins_p.K497fs|SLC23A2_uc002wlh.1_Frame_Shift_Ins_p.K612fs	NM_005116	NP_976072	Q9UGH3	S23A2_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA.	612					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	p.K612fs*>39(2)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AAGCATCTGTATTTTTTTATAA	0.475													T	4837736	-	T	4837735	7	5	8	1	0	1	1	0	0	0	0	0	14463	1490	52	0	120	0	SLC23A2	20	4837735	Frame_Shift_Ins	INS	-	TCGA-BR-4201-01A-01D-1126-08	669781	4837735	58187785	1548	8570											
PROKR2	128674	broad.mit.edu	37	chr20	5282888	5282888	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcatggcgatgcactcgAccacgtagaaggcagtgagg	14	10	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:5282888A>G	uc010zqw.1	-	2	953	c.953T>C	c.(952-954)GTC>GCC	p.V318A	PROKR2_uc010zqx.1_Missense_Mutation_p.V318A|PROKR2_uc010zqy.1_Missense_Mutation_p.V318A	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	318	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5						GATGCACTCGACCACGTAGAA	0.517										HNSCC(71;0.22)			G	5282888	A	G	5282888	3	3	8	1	0	0	0	0	1	0	0	0	12553	275	10	3	204	3	PROKR2	20	5282888	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	445153	5282888	57742632	1549	8571											
PLCB4	5332	broad.mit.edu	37	chr20	9404516	9404516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atatcgacacatttcccttcGaaatgagggaaataaaccat	6	9	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:9404516G>A	uc002wnf.2	+	26	2541	c.2405G>A	c.(2404-2406)CGA>CAA	p.R802Q	PLCB4_uc010gbw.1_Missense_Mutation_p.R802Q|PLCB4_uc010gbx.2_Missense_Mutation_p.R814Q|PLCB4_uc002wne.2_Missense_Mutation_p.R802Q|PLCB4_uc002wnh.2_Missense_Mutation_p.R649Q	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	802					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			skin(11)|ovary(3)|pancreas(1)	15						ATTTCCCTTCGAAATGAGGGA	0.408													A	9404516	G	A	9404516	3	1	8	1	0	0	0	0	1	0	0	0	12030	1058	37	1	2539	1	PLCB4	20	9404516	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4121628	9404516	53621004	1550	8572											
ZNF133	7692	broad.mit.edu	37	chr20	18295755	18295755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgatcctttctgccctcCgggtttctccagtcagaaat	7	15	3	1	rs151186857	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:18295755C>T	uc010gcq.2	+	5	565	c.260C>T	c.(259-261)CCG>CTG	p.P87L	ZNF133_uc010zrv.1_Missense_Mutation_p.P90L|ZNF133_uc010zrw.1_Missense_Mutation_p.P24L|ZNF133_uc010gcr.2_Missense_Mutation_p.P87L|ZNF133_uc010zrx.1_5'UTR|ZNF133_uc002wql.3_Missense_Mutation_p.P86L|ZNF133_uc010gcs.2_Missense_Mutation_p.P86L|ZNF133_uc010zry.1_5'UTR|ZNF133_uc002wqm.2_Missense_Mutation_p.P87L	NM_003434	NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	87						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)	2						TTCTGCCCTCCGGGTTTCTCC	0.532													T	18295755	C	T	18295755	3	4	8	1	0	0	0	0	1	0	0	0	17720	652	23	1	267	1	ZNF133	20	18295755	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	8891239	18295755	44729765	1551	8573											
PAX1	5075	broad.mit.edu	37	chr20	21687619	21687619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccggggtcccgggcacggCgggccacgtcagcatcccgc	15	19	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:21687619C>T	uc002wsj.2	+	2	884	c.830C>T	c.(829-831)GCG>GTG	p.A277V	PAX1_uc010zsl.1_Missense_Mutation_p.A277V|PAX1_uc010zsm.1_Missense_Mutation_p.A253V	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	277					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						CCGGGCACGGCGGGCCACGTC	0.667													T	21687619	C	T	21687619	3	4	8	1	0	0	0	0	1	0	0	0	11478	768	27	1	836	1	PAX1	20	21687619	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	3391864	21687619	41337901	1552	8574											
GGTLC1	92086	broad.mit.edu	37	chr20	23967095	23967095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggttgatggtgctggtggCggacacagcactgccgtcct	16	10	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:23967095C>T	uc002wts.2	-	2	287	c.154G>A	c.(154-156)GCC>ACC	p.A52T	GGTLC1_uc002wtu.2_Missense_Mutation_p.A52T	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	52							gamma-glutamyltransferase activity			ovary(1)	1						GTGCTGGTGGCGGACACAGCA	0.627													T	23967095	C	T	23967095	3	4	8	1	0	0	0	0	1	0	0	0	6365	768	27	1	543	1	GGTLC1	20	23967095	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2279476	23967095	39058425	1553	8575											
PYGB	5834	broad.mit.edu	37	chr20	25239910	25239910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggaattctacatgggtcGcacgctgcagaacacgatgg	12	11	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:25239910G>A	uc002wup.2	+	2	390	c.281G>A	c.(280-282)CGC>CAC	p.R94H		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	94					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	TACATGGGTCGCACGCTGCAG	0.493													A	25239910	G	A	25239910	3	1	8	1	0	0	0	0	1	0	0	0	12860	1087	38	1	287	1	PYGB	20	25239910	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1272815	25239910	37785610	1554	8576											
SUN5	140732	broad.mit.edu	37	chr20	31590444	31590444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagggcttggtcattgttgcGgacaggcaacaggatgttgt	15	6	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:31590444G>A	uc002wyi.2	-	3	253	c.160C>T	c.(160-162)CGC>TGC	p.R54C		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	sperm associated antigen 4-like	54					spermatogenesis					skin(1)	1						TCATTGTTGCGGACAGGCAAC	0.438													A	31590444	G	A	31590444	3	1	8	1	0	0	0	0	1	0	0	0	15391	1116	39	1	1023	1	SUN5	20	31590444	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	6350534	31590444	31435076	1555	8577											
ZNF341	84905	broad.mit.edu	37	chr20	32344991	32344991	+	Frame_Shift_Del	DEL	C	C	-													ggagcctccagtatatcccaCccccacagtgtacagccctg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:32344990_32344990AC>A	uc002wzy.3	+	5	798	c.778_778AC>A	c.(778-780)accfs	p.T260fs	ZNF341_uc002wzx.3_Frame_Shift_Del_p.T260fs|ZNF341_uc010geq.3_Frame_Shift_Del_p.T170fs|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						AGTATATCCCACCCCCACAGT	0.622													-	32344991	C	-	32344991	7	5	8	1	0	1	0	1	0	0	0	0	17854	507	18	0	801	0	ZNF341	20	32344991	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	754547	32344991	30680529	1556	8578											
NCOA6	23054	broad.mit.edu	37	chr20	33356268	33356268	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgagtgggaggtcttaccTggaccacttgccataggaaa	12	8	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:33356268T>C	uc002xav.2	-	6	3084	c.513A>G	c.(511-513)CCA>CCG	p.P171P	NCOA6_uc002xaw.2_Silent_p.P171P|NCOA6_uc010gew.1_Silent_p.P171P	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	171	TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						AGGTCTTACCTGGACCACTTG	0.458													C	33356268	T	C	33356268	2	2	8	1	0	0	0	0	0	0	0	1	10233	1594	55	3		3	NCOA6	20	33356268	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	1011277	33356268	29669252	1557	8579											
RBM39	9584	broad.mit.edu	37	chr20	34295045	34295045	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaagtccattacttacgttTgagggttaaacatgttagag	9	5	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:34295045T>C	uc002xeb.2	-	14	1648	c.1304A>G	c.(1303-1305)CAA>CGA	p.Q435R	RBM39_uc002xdz.2_Missense_Mutation_p.Q411R|RBM39_uc002xea.2_Missense_Mutation_p.Q278R|RBM39_uc010gfn.2_Missense_Mutation_p.Q278R|RBM39_uc010zvm.1_Missense_Mutation_p.Q407R|RBM39_uc002xeg.2_Missense_Mutation_p.Q413R|RBM39_uc002xec.2_Missense_Mutation_p.Q429R|RBM39_uc002xed.2_Missense_Mutation_p.Q153R|RBM39_uc002xee.2_Missense_Mutation_p.Q278R|RBM39_uc002xef.2_Missense_Mutation_p.Q272R|RBM39_uc010zvn.1_Missense_Mutation_p.Q278R	NM_184234	NP_909122	Q14498	RBM39_HUMAN	RNA binding motif protein 39 isoform a	435	Interaction with NCOA6 (By similarity).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TACTTACGTTTGAGGGTTAAA	0.294													C	34295045	T	C	34295045	3	2	8	1	0	0	0	0	1	0	0	0	13133	1812	63	3	304	3	RBM39	20	34295045	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	938777	34295045	28730475	1558	8580											
RPRD1B	58490	broad.mit.edu	37	chr20	36694647	36694647	+	Frame_Shift_Del	DEL	A	A	-													atgttttgtcggagaaggagAaaaaactagaggtgagtgca							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:36694646_36694646GA>G	uc002xho.4	+	5	1221	c.819_819GA>G	c.(817-819)gagfs	p.E273fs	RPRD1B_uc002xhp.4_Non-coding_Transcript	NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 1B (RPRD1B), mRNA.	273										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CGGAGAAGGAGAAAAAACTAG	0.488													-	36694647	A	-	36694647	7	5	8	1	0	1	0	1	0	0	0	0	13616	247	9	0	842	0	RPRD1B	20	36694647	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	2399602	36694647	26330873	1559	8581											
SLC32A1	140679	broad.mit.edu	37	chr20	37357184	37357184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccaagtcttcttcgacGtcgccatcttcgtcatcggc	9	15	4	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:37357184G>A	uc002xjc.2	+	2	1743	c.1480G>A	c.(1480-1482)GTC>ATC	p.V494I		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	494	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTTCTTCGACGTCGCCATCTT	0.647													A	37357184	G	A	37357184	3	1	8	1	0	0	0	0	1	0	0	0	14565	1145	40	1	1486	1	SLC32A1	20	37357184	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	662537	37357184	25668336	1560	8582											
CHD6	84181	broad.mit.edu	37	chr20	40081539	40081539	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaacgagttgtagtgtTtggtctgctttctcacgcga	10	10	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:40081539T>G	uc002xka.1	-	21	3342	c.3164A>C	c.(3163-3165)AAA>ACA	p.K1055T		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1055					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				GTTGTAGTGTTTGGTCTGCTT	0.483													G	40081539	T	G	40081539	3	3	8	1	0	0	0	0	1	0	0	0	3329	1841	64	5	5051	5	CHD6	20	40081539	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	2724355	40081539	22943981	1561	8583											
SFRS6	6431	broad.mit.edu	37	chr20	42089154	42089154	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcattgtttttctcctaataGgtctcgatctagaagacggt	8	8	4	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:42089154G>T	uc010zwg.1	+	5	761	c.591_splice	c.e5-1	p.R197_splice	SFRS6_uc002xki.2_Splice_Site_p.R68_splice|SFRS6_uc002xkk.2_Splice_Site_p.R197_splice	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	arginine/serine-rich splicing factor 6						mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCTCCTAATAGGTCTCGATCT	0.408													T	42089154	G	T	42089154	5	4	8	1	0	0	0	0	0	0	1	0	14181	1014	35	5	608	5	SFRS6	20	42089154	Splice_Site	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2007615	42089154	20936366	1562	8584											
MATN4	8785	broad.mit.edu	37	chr20	43933295	43933295	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatactggatcacgccaacGcgcgtggcgttgggacccac	13	13	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:43933295G>A	uc002xnn.2	-	3	403	c.216C>T	c.(214-216)CGC>CGT	p.R72R	MATN4_uc002xno.2_Silent_p.R72R|MATN4_uc002xnp.2_Silent_p.R72R|MATN4_uc010zwr.1_Silent_p.R20R|MATN4_uc002xnr.1_Silent_p.R72R|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	72	VWFA 1.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				TCACGCCAACGCGCGTGGCGT	0.652													A	43933295	G	A	43933295	2	1	8	1	0	0	0	0	0	0	0	1	9336	1074	38	1		1	MATN4	20	43933295	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1844141	43933295	19092225	1563	8585											
SPINLW1	57119	broad.mit.edu	37	chr20	44166631	44166631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctaaacatttctttccaCggctgaacgggcaacacttc	7	12	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:44166631C>T	uc010zxc.1	-	4	526	c.494G>A	c.(493-495)CGT>CAT	p.R165H	WFDC6_uc002xos.1_Missense_Mutation_p.R65H	NM_020398	NP_065131	O95925	EPPI_HUMAN	serine peptidase inhibitor-like, with Kunitz and	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						extracellular region	serine-type endopeptidase inhibitor activity			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)				TTTCTTTCCACGGCTGAACGG	0.473													T	44166631	C	T	44166631	3	4	8	1	0	0	0	0	1	0	0	0	15066	536	19	1		1	SPINLW1	20	44166631	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	233336	44166631	18858889	1564	8586											
CTSA	5476	broad.mit.edu	37	chr20	44521441	44521441	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaacaacaaacttttcctGaccggggagagctatgctgg	11	9	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:44521441G>A	uc002xqj.3	+	6	996	c.522G>A	c.(520-522)CTG>CTA	p.L174L	NEURL2_uc002xqg.1_5'Flank|CTSA_uc002xqh.2_Silent_p.L192L|CTSA_uc002xqi.2_RNA|CTSA_uc010zxi.1_Silent_p.L175L|CTSA_uc002xqk.3_Silent_p.L174L	NM_001127695	NP_001121167	P10619	PPGB_HUMAN	cathepsin A isoform b precursor	174					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				AACTTTTCCTGACCGGGGAGA	0.562													A	44521441	G	A	44521441	2	1	8	1	0	0	0	0	0	0	0	1	4029	1277	45	4		4	CTSA	20	44521441	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	354810	44521441	18504079	1565	8587											
SALL4	57167	broad.mit.edu	37	chr20	50400983	50400983	+	Frame_Shift_Del	DEL	C	C	-													ggaaaccgggagggtaggaaCccccccactctggatcacag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:50400982_50400982AC>A	uc002xwh.4	-	3	3085	c.2984_2984GT>T	c.(2983-2985)gttfs	p.V995fs	SALL4_uc010gii.3_Frame_Shift_Del_p.V558fs|SALL4_uc002xwi.4_Frame_Shift_Del_p.V218fs	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	995					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGGGTAGGAACCCCCCCACT	0.562													-	50400983	C	-	50400983	7	5	8	1	0	1	0	1	0	0	0	0	13813	507	18	0	182	0	SALL4	20	50400983	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	5879542	50400983	12624537	1566	8588											
CTCFL	140690	broad.mit.edu	37	chr20	56098737	56098737	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accttgatcagtccagtagtTtcagccaggctcaccgctaa	8	13	3	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:56098737T>A	uc010gix.1	-	1	1187	c.525A>T	c.(523-525)GAA>GAT	p.E175D	CTCFL_uc010giw.1_Missense_Mutation_p.E175D|CTCFL_uc002xym.2_Missense_Mutation_p.E175D|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.E175D|CTCFL_uc010gjb.1_Missense_Mutation_p.E175D|CTCFL_uc010gjc.1_Missense_Mutation_p.E175D|CTCFL_uc010gjd.1_Missense_Mutation_p.E175D|CTCFL_uc010gje.2_Missense_Mutation_p.E175D|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.E175D|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Missense_Mutation_p.E175D|CTCFL_uc010gjk.1_Missense_Mutation_p.E175D|CTCFL_uc010gjl.1_Missense_Mutation_p.E175D	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	175					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GTCCAGTAGTTTCAGCCAGGC	0.443													A	56098737	T	A	56098737	3	1	8	1	0	0	0	0	1	0	0	0	4001	1838	64	5	1506	5	CTCFL	20	56098737	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	5697754	56098737	6926783	1567	8589											
GNAS	2778	broad.mit.edu	37	chr20	57415375	57415375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaacgcccaccaccgctccGgcgcccaggtattccctgag	9	18	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:57415375G>A	uc002xzt.2	+	1	581	c.214G>A	c.(214-216)GGC>AGC	p.G72S	GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	GNAS complex locus NESP55	72				Missing (in Ref. 8; AAH66923).	activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCACCGCTCCGGCGCCCAGGT	0.677			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			A	57415375	G	A	57415375	3	1	8	1	0	0	0	0	1	0	0	0	6510	1116	39	1	216	1	GNAS	20	57415375	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1316638	57415375	5610145	1568	8590											
TH1L	51497	broad.mit.edu	37	chr20	57564992	57564992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccaggaggagcagggggGctccgctgtgcgcaggatcg	20	11	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:57564992G>A	uc002yag.2	+	7	791	c.764G>A	c.(763-765)GGC>GAC	p.G255D	TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Missense_Mutation_p.G255D	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	255					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)		Colorectal(105;0.109)			GAGCAGGGGGGCTCCGCTGTG	0.622													A	57564992	G	A	57564992	3	1	8	1	0	0	0	0	1	0	0	0	15836	1203	42	2	790	2	TH1L	20	57564992	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	149617	57564992	5460528	1569	8591											
C20orf197	284756	broad.mit.edu	37	chr20	58645855	58645855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcttggacagtcacaatGtgcatttgggtattaaaggc	10	7	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:58645855G>A	uc002ybj.1	+	4	579	c.273G>A	c.(271-273)ATG>ATA	p.M91I		NM_173644	NP_775915	Q8N268	CT197_HUMAN	hypothetical protein LOC284756	91										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			cagtcacaatgtgcatttggg	0.219													A	58645855	G	A	58645855	3	1	8	1	0	0	0	0	1	0	0	0	2102	1377	48	4	279	4	C20orf197	20	58645855	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1080863	58645855	4379665	1570	8592											
PSMA7	5688	broad.mit.edu	37	chr20	60714901	60714901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggtcctccacagtcagcCggtggctctggcactccacc	11	18	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:60714901C>T	uc002ybx.1	-	3	399	c.284G>A	c.(283-285)CGG>CAG	p.R95Q	PSMA7_uc002yby.1_RNA	NM_002792	NP_002783	O14818	PSA7_HUMAN	proteasome alpha 7 subunit	95					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity				0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CACAGTCAGCCGGTGGCTCTG	0.612													T	60714901	C	T	60714901	3	4	8	1	0	0	0	0	1	0	0	0	12672	652	23	1	482	1	PSMA7	20	60714901	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2069046	60714901	2310619	1571	8593											
OSBPL2	9885	broad.mit.edu	37	chr20	60854271	60854271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaccacccccccatcagtGcgttccactcggaaggtctc	8	18	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:60854271G>A	uc002yck.1	+	7	752	c.550G>A	c.(550-552)GCG>ACG	p.A184T	OSBPL2_uc002ycl.1_Missense_Mutation_p.A172T|OSBPL2_uc011aah.1_Missense_Mutation_p.A92T|OSBPL2_uc002ycm.1_5'UTR	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	oxysterol-binding protein-like protein 2 isoform	184					lipid transport		lipid binding			ovary(1)|central_nervous_system(1)	2	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			CCCCATCAGTGCGTTCCACTC	0.507													A	60854271	G	A	60854271	3	1	8	1	0	0	0	0	1	0	0	0	11278	1319	46	2	572	2	OSBPL2	20	60854271	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	139370	60854271	2171249	1572	8594											
DIDO1	11083	broad.mit.edu	37	chr20	61525803	61525803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagatcgaagaggtgtgcgCggtgctgactggtggtgtct	18	6	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:61525803C>T	uc002ydr.1	-	11	2798	c.2534G>A	c.(2533-2535)CGC>CAC	p.R845H	DIDO1_uc002yds.1_Missense_Mutation_p.R845H|DIDO1_uc002ydt.1_Missense_Mutation_p.R845H|DIDO1_uc002ydu.1_Missense_Mutation_p.R845H	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	845					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GAGGTGTGCGCGGTGCTGACT	0.507													T	61525803	C	T	61525803	3	4	8	1	0	0	0	0	1	0	0	0	4522	768	27	1	4241	1	DIDO1	20	61525803	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	671532	61525803	1499717	1573	8595											
YTHDF1	54915	broad.mit.edu	37	chr20	61835152	61835152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgctcattgaggggtaaCtgttactctgcaaaagcaaa	11	8	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:61835152C>T	uc002yeh.2	-	4	434	c.140G>A	c.(139-141)AGT>AAT	p.S47N	YTHDF1_uc011aaq.1_5'UTR	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	47										ovary(2)	2						TGAGGGGTAACTGTTACTCTG	0.512													T	61835152	C	T	61835152	3	4	8	1	0	0	0	0	1	0	0	0	17495	565	20	4	1547	4	YTHDF1	20	61835152	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	309349	61835152	1190368	1574	8596											
PRIC285	85441	broad.mit.edu	37	chr20	62196162	62196162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgaaggtcaagaaggcgCggcagtcctctcggcggccg	16	12	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:62196162C>T	uc002yfm.2	-	9	4905	c.4013G>A	c.(4012-4014)CGC>CAC	p.R1338H	PRIC285_uc002yfl.1_Missense_Mutation_p.R769H	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1338					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CAAGAAGGCGCGGCAGTCCTC	0.662													T	62196162	C	T	62196162	3	4	8	1	0	0	0	0	1	0	0	0	12485	768	27	1	3984	1	PRIC285	20	62196162	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	361010	62196162	829358	1575	8597											
TNFRSF6B	8771	broad.mit.edu	37	chr20	62329757	62329757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggtccgacaccaagggcGggccgcgcggccttgcagct	17	14	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:62329757G>A	uc002yfy.2	+	7	1178	c.744G>A	c.(742-744)GCG>GCA	p.A248A	RTEL1_uc002yfw.2_RNA|TNFRSF6B_uc002yfz.2_Silent_p.A248A	NM_032945	NP_116563	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily,	248					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CACCAAGGGCGGGCCGCGCGG	0.716													A	62329757	G	A	62329757	2	1	8	1	0	0	0	0	0	0	0	1	16295	1103	39	1		1	TNFRSF6B	20	62329757	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	133595	62329757	695763	1576	8598											
TCEA2	6919	broad.mit.edu	37	chr20	62697836	62697836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctccttccaggagggagCcatggatttgctgcgggagc	14	11	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:62697836C>T	uc011abs.1	+	2	736	c.80C>T	c.(79-81)GCC>GTC	p.A27V	TCEA2_uc011abr.1_5'UTR|TCEA2_uc010gkq.2_5'UTR|TCEA2_uc010gks.2_Missense_Mutation_p.A27V|TCEA2_uc010gkt.2_5'UTR|TCEA2_uc010gku.1_5'UTR	NM_003195	NP_003186	Q15560	TCEA2_HUMAN	transcription elongation factor A protein 2	27	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding				0	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CAGGAGGGAGCCATGGATTTG	0.567													T	62697836	C	T	62697836	3	4	8	1	0	0	0	0	1	0	0	0	15665	739	26	2	86	2	TCEA2	20	62697836	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	368079	62697836	327684	1577	8599											
NPBWR2	2832	broad.mit.edu	37	chr20	62737901	62737901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgacgggcagtaccagcGtgaagagcccgtcggcgacg	16	11	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:62737901G>A	uc011abt.1	-	1	284	c.284C>T	c.(283-285)ACG>ATG	p.T95M		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	95	Helical; Name=2; (Potential).					plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CAGTACCAGCGTGAAGAGCCC	0.612													A	62737901	G	A	62737901	3	1	8	1	0	0	0	0	1	0	0	0	10569	1145	40	1	720	1	NPBWR2	20	62737901	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	40065	62737901	287619	1578	8600											
PCMTD2	55251	broad.mit.edu	37	chr20	62895852	62895854	+	In_Frame_Del	DEL	CTT	CTT	-													tatgcaaagcagaaactggaCttcttcatcagaacaagtga							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:62895851_62895853ACTT>A	uc002yil.4	+	2	577_579	c.377_379ACTT>A	c.(376-381)gacttc>gAtc	p.F128del	PCMTD2_uc002yim.4_In_Frame_Del_p.F128del	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 (PCMTD2), transcript variant 1, mRNA.	128						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CAGAAACTGGACTTCTTCATCAG	0.36													-	62895854	CTT	-	62895852	7	5	8	1	0	1	0	1	0	0	0	0	11587	564	20	0	384	0	PCMTD2	20	62895852	In_Frame_Del	DEL	CTT	TCGA-BR-4201-01A-01D-1126-08	157951	62895852	129668	1579	8601											
NRIP1	8204	broad.mit.edu	37	chr21	16340294	16340294	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgcagcatgccagacccctGatatgtatgtgtattgagaa	11	8	0	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:16340294G>T	uc002yjx.2	-	4	818	c.220C>A	c.(220-222)CAG>AAG	p.Q74K		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	74					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CCAGACCCCTGATATGTATGT	0.458													T	16340294	G	T	16340294	3	4	8	1	0	0	0	0	1	0	0	0	10652	1299	45	5	3260	5	NRIP1	21	16340294	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08		16340294	31789601	1580	8602											
USP25	29761	broad.mit.edu	37	chr21	17191019	17191019	+	Splice_Site	DEL	A	A	-													ttttctcccttcttataggtAaaaaatttgaaaacactgaa							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:17191018_17191018TA>T	uc011aby.1	+	10	1149	c.932_splice	c.e10-1	p.G311_splice	USP25_uc002yjz.1_Splice_Site_p.G311_splice|USP25_uc010gla.1_Intron|USP25_uc002yjy.1_Splice_Site_p.G311_splice	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	311					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TTCTTATAGGTAAAAAATTTG	0.368													-	17191019	A	-	17191019	8	5	8	1	0	1	0	1	0	0	1	0	17053	363	13	0	972	0	USP25	21	17191019	Splice_Site	DEL	A	TCGA-BR-4201-01A-01D-1126-08	850725	17191019	30938876	1581	8603											
USP25	29761	broad.mit.edu	37	chr21	17250724	17250724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagttaccttcatattccaCgcatgaactctgtgagcgat	8	10	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:17250724C>T	uc002yjy.1	+	24	3315	c.3098C>T	c.(3097-3099)ACG>ATG	p.T1033M	USP25_uc011aby.1_Missense_Mutation_p.T1103M|USP25_uc002yjz.1_Missense_Mutation_p.T1065M|USP25_uc010gla.1_Missense_Mutation_p.T428M	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	1033					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TCATATTCCACGCATGAACTC	0.433													T	17250724	C	T	17250724	3	4	8	1	0	0	0	0	1	0	0	0	17053	536	19	1	3192	1	USP25	21	17250724	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	59705	17250724	30879171	1582	8604											
ADAMTS1	9510	broad.mit.edu	37	chr21	28212641	28212641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacacacttgccgttgataCaccatttcccttctccacag	4	16	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:28212641C>T	uc002ymf.2	-	5	2074	c.1619G>A	c.(1618-1620)TGT>TAT	p.C540Y		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	540	Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		GCCGTTGATACACCATTTCCC	0.473													T	28212641	C	T	28212641	3	4	8	1	0	0	0	0	1	0	0	0	255	478	17	4	1304	4	ADAMTS1	21	28212641	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	10961917	28212641	19917254	1583	8605											
KRTAP27-1	643812	broad.mit.edu	37	chr21	31709741	31709741	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taagtagtttggacaactccGgggaagcagttactttgcac	11	8	0	0	rs139729864		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:31709741G>T	uc002ynx.1	-	1	272	c.246C>A	c.(244-246)CCC>CCA	p.P82P		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	82						intermediate filament				ovary(2)	2						GGACAACTCCGGGGAAGCAGT	0.478													T	31709741	G	T	31709741	2	4	8	1	0	0	0	0	0	0	0	1	8544	1103	39	5		5	KRTAP27-1	21	31709741	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3497100	31709741	16420154	1584	8606											
C21orf59	56683	broad.mit.edu	37	chr21	33954519	33954519	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttttggtaccagagtgtgCgattcttgccccgcgtgtgg	14	10	1	1	rs145187250		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:33954519C>T	uc002ypy.1	-	7	1082	c.969G>A	c.(967-969)TCG>TCA	p.S323S	TCP10L_uc002ypw.3_Silent_p.S117S|C21orf59_uc002ypx.1_Silent_p.S140S|C21orf59_uc002ypz.1_Silent_p.S291S	NM_021254	NP_067077	P57076	CU059_HUMAN	hypothetical protein LOC56683	Error:Variant_position_missing_in_P57076_after_alignment						cytosol|nucleus					0						CCAGAGTGTGCGATTCTTGCC	0.502													T	33954519	C	T	33954519	2	4	8	1	0	0	0	0	0	0	0	1	2130	755	27	1		1	C21orf59	21	33954519	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2244778	33954519	14175376	1585	8607											
SON	6651	broad.mit.edu	37	chr21	34923905	34923905	+	Missense_Mutation	SNP	A	A	T													cccagatgttagcaactagcActatggactcccagatgtta							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:34923905A>T	uc002yse.1	+	3	2417	c.2368A>T	c.(2368-2370)ACT>TCT	p.T790S	SON_uc002ysb.1_Missense_Mutation_p.T790S|SON_uc002ysc.2_Missense_Mutation_p.T790S|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	790	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						AGCAACTAGCACTATGGACTC	0.512													T	34923905	A	T	34923905	3	4	8	1	0	0	0	0	1	0	0	0	14926	159	6	5	2378	5	SON	21	34923905	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	969386	34923905	13205990	1586	8608	17	2									
SON	6651	broad.mit.edu	37	chr21	34923907	34923907	+	Silent	SNP	T	T	C													cagatgttagcaactagcacTatggactcccagatgttagc					rs146626998		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:34923907T>C	uc002yse.1	+	3	2419	c.2370T>C	c.(2368-2370)ACT>ACC	p.T790T	SON_uc002ysb.1_Silent_p.T790T|SON_uc002ysc.2_Silent_p.T790T|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	790	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						CAACTAGCACTATGGACTCCC	0.517													C	34923907	T	C	34923907	2	2	8	1	0	0	0	0	0	0	0	1	14926	1509	53	3		3	SON	21	34923907	Silent	SNP	T	TCGA-BR-4201-01A-01D-1126-08	2	34923907	13205988	1587	8609	17	2									
KCNJ15	3772	broad.mit.edu	37	chr21	39672159	39672159	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaatggaaaatatgtggctGatttcagtcagtttgaacag	10	4	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:39672159G>A	uc002ywv.2	+	4	1278	c.976G>A	c.(976-978)GAT>AAT	p.D326N	KCNJ15_uc002yww.2_Missense_Mutation_p.D326N|KCNJ15_uc002ywx.2_Missense_Mutation_p.D326N	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	326	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						ATATGTGGCTGATTTCAGTCA	0.443													A	39672159	G	A	39672159	3	1	8	1	0	0	0	0	1	0	0	0	8049	1290	45	4	978	4	KCNJ15	21	39672159	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4748252	39672159	8457736	1588	8610											
PRDM15	63977	broad.mit.edu	37	chr21	43274764	43274764	+	Frame_Shift_Del	DEL	G	G	-													acacgcgcagctcggtacccGgggggatgtctctggaggtg							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:43274763_43274763CG>C	uc002yzq.1	-	11	1659	c.1548_1548CG>G	c.(1546-1548)ccgfs	p.P516fs	PRDM15_uc002yzo.3_Frame_Shift_Del_p.P187fs|PRDM15_uc002yzp.3_Frame_Shift_Del_p.P187fs|PRDM15_uc002yzr.1_Frame_Shift_Del_p.P187fs	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	516	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCTCGGTACCCGGGGGGATGT	0.652													-	43274764	G	-	43274764	7	5	8	1	0	1	0	1	0	0	0	0	12456	1116	39	0	3056	0	PRDM15	21	43274764	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	3602605	43274764	4855131	1589	8611											
TRAPPC10	7109	broad.mit.edu	37	chr21	45511891	45511891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagataccggtgatagtacCgacctgcaactagtaccact	9	11	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:45511891C>T	uc002zea.2	+	19	3127	c.2958C>T	c.(2956-2958)ACC>ACT	p.T986T	TRAPPC10_uc010gpo.2_Silent_p.T697T|TRAPPC10_uc011afa.1_Silent_p.T364T|TRAPPC10_uc011afb.1_Silent_p.T91T	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	986					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						GTGATAGTACCGACCTGCAAC	0.418													T	45511891	C	T	45511891	2	4	8	1	0	0	0	0	0	0	0	1	16454	639	23	1		1	TRAPPC10	21	45511891	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2237127	45511891	2618004	1590	8612											
ADARB1	104	broad.mit.edu	37	chr21	46640907	46640907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagcacgcgttgtactgtcGctggatgcgtgtgcacggca	14	10	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:46640907G>A	uc002zgy.2	+	11	2459	c.2024G>A	c.(2023-2025)CGC>CAC	p.R675H	ADARB1_uc002zgr.2_Missense_Mutation_p.R675H|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.R635H|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.R635H|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	675	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		TTGTACTGTCGCTGGATGCGT	0.612													A	46640907	G	A	46640907	3	1	8	1	0	0	0	0	1	0	0	0	282	1087	38	1	2058	1	ADARB1	21	46640907	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1129016	46640907	1488988	1591	8613											
DIP2A	23181	broad.mit.edu	37	chr21	47975905	47975905	+	Frame_Shift_Del	DEL	A	A	-													tgtttaacagatgacatcccAaaaaagaagatagcaagcgt							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:47975904_47975904CA>C	uc002zjo.2	+	28	3581	c.3398_3398CA>C	c.(3397-3399)ccafs	p.P1133fs	DIP2A_uc011afy.1_Frame_Shift_Del_p.P1069fs|DIP2A_uc011afz.1_Frame_Shift_Del_p.P1129fs|DIP2A_uc002zjr.3_Frame_Shift_Del_p.P100fs	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	1133					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GATGACATCCCAAAAAAGAAG	0.498													-	47975905	A	-	47975905	7	5	8	1	0	1	0	1	0	0	0	0	4527	117	5	0	3595	0	DIP2A	21	47975905	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	1334998	47975905	153990	1592	8614											
SLC25A1	6576	broad.mit.edu	37	chr22	19164720	19164721	+	Splice_Site	DEL	GA	GA	-													gtcgtggatgaacttcacctGagagagagaagcaaaggcgc							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:19164719_19164720TGA>T	uc021wlb.1	-	4	468	c.463_splice	c.e4-1	p.V155_splice	SLC25A1_uc002zoy.3_Splice_Site_p.V45_splice|SLC25A1_uc002zoz.3_Splice_Site_p.V148_splice	NM_005984	NP_005975	P53007	TXTP_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 (SLC25A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	148					gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		GAACTTCACCTGAGAGAGAGAA	0.604													-	19164721	GA	-	19164720	8	5	8	1	0	1	0	1	0	0	1	0	14471	1305	45	0		0	SLC25A1	22	19164720	Splice_Site	DEL	GA	TCGA-BR-4201-01A-01D-1126-08		19164720	32139846	1593	8615											
C22orf29	79680	broad.mit.edu	37	chr22	19839076	19839076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcaggggtggccatggCggctggtaaagacctggggg	19	9	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:19839076C>T	uc002zqg.2	-	2	1308	c.709G>A	c.(709-711)GCC>ACC	p.A237T	GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Missense_Mutation_p.A237T|C22orf29_uc002zqi.2_Missense_Mutation_p.A237T|C22orf29_uc010grt.1_Intron	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	hypothetical protein LOC79680	237											0	Colorectal(54;0.0993)					GTGGCCATGGCGGCTGGTAAA	0.607													T	19839076	C	T	19839076	3	4	8	1	0	0	0	0	1	0	0	0	2141	768	27	1	389	1	C22orf29	22	19839076	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	674356	19839076	31465490	1594	8616											
C22orf29	79680	broad.mit.edu	37	chr22	19839620	19839620	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtcgttcgcacacacacGgtgtccccacagcagggccg	12	15	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:19839620G>A	uc002zqg.2	-	2	764	c.165C>T	c.(163-165)ACC>ACT	p.T55T	GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Silent_p.T55T|C22orf29_uc002zqi.2_Silent_p.T55T|C22orf29_uc010grt.1_Intron	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	hypothetical protein LOC79680	55											0	Colorectal(54;0.0993)					GCACACACACGGTGTCCCCAC	0.612													A	19839620	G	A	19839620	2	1	8	1	0	0	0	0	0	0	0	1	2141	1103	39	1		1	C22orf29	22	19839620	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	544	19839620	31464946	1595	8617											
ZDHHC8	29801	broad.mit.edu	37	chr22	20128528	20128528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaaggctggcctgggccGtagcaaggtgggcgcctggg	20	10	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:20128528G>A	uc002zrq.2	+	7	993	c.887G>A	c.(886-888)CGT>CAT	p.R296H	ZDHHC8_uc002zrr.1_Missense_Mutation_p.R296H|ZDHHC8_uc010gsa.2_Missense_Mutation_p.R102H	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	296	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					GGCCTGGGCCGTAGCAAGGTG	0.622													A	20128528	G	A	20128528	3	1	8	1	0	0	0	0	1	0	0	0	17618	1145	40	1	913	1	ZDHHC8	22	20128528	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	288908	20128528	31176038	1596	8618											
RTN4R	65078	broad.mit.edu	37	chr22	20229616	20229616	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagctggtcttccaggctccAgtactgaggccttgtcagcg	12	12	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:20229616A>G	uc002zrv.2	-	2	1241	c.1040T>C	c.(1039-1041)CTG>CCG	p.L347P	RTN4R_uc002zru.2_Missense_Mutation_p.L119P	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor precursor	347					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity				0	Colorectal(54;0.0993)					TCCAGGCTCCAGTACTGAGGC	0.672													G	20229616	A	G	20229616	3	3	8	1	0	0	0	0	1	0	0	0	13730	188	7	3	385	3	RTN4R	22	20229616	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	101088	20229616	31074950	1597	8619											
ZNF74	7625	broad.mit.edu	37	chr22	20760748	20760748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaagcccttcaagtgcaaCgagtgcggcaaagccttcag	12	11	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:20760748C>T	uc010gsm.2	+	6	1637	c.1425C>T	c.(1423-1425)AAC>AAT	p.N475N	ZNF74_uc002zsg.2_Silent_p.N404N|ZNF74_uc002zsh.2_Silent_p.N475N|ZNF74_uc002zsi.2_Silent_p.N404N|ZNF74_uc010gsn.2_Silent_p.N404N	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	475	C2H2-type 9.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TCAAGTGCAACGAGTGCGGCA	0.642													T	20760748	C	T	20760748	2	4	8	1	0	0	0	0	0	0	0	1	18124	535	19	1		1	ZNF74	22	20760748	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	531132	20760748	30543818	1598	8620											
KLHL22	84861	broad.mit.edu	37	chr22	20796481	20796481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctcaaggagcagggagCggggcagggtgagcacacag	20	9	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:20796481C>T	uc002zsl.1	-	7	1893	c.1784G>A	c.(1783-1785)CGC>CAC	p.R595H	KLHL22_uc011ahr.1_Missense_Mutation_p.R452H	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	595					cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAGCAGGGAGCGGGGCAGGGT	0.642													T	20796481	C	T	20796481	3	4	8	1	0	0	0	0	1	0	0	0	8377	768	27	1	124	1	KLHL22	22	20796481	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	35733	20796481	30508085	1599	8621											
MED15	51586	broad.mit.edu	37	chr22	20929406	20929406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtcctcaaagatgatcAcggaagccttggcccaaggt	10	12	3	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:20929406A>G	uc002zsp.2	+	9	1239	c.1159A>G	c.(1159-1161)ACG>GCG	p.T387A	MED15_uc002zsq.2_Intron|MED15_uc010gso.2_Intron|MED15_uc002zsr.2_Intron|MED15_uc011ahs.1_Intron|MED15_uc002zss.2_Intron|MED15_uc011ahu.1_Missense_Mutation_p.T113A|MED15_uc002zst.2_Missense_Mutation_p.T3A	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	387	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			AAAGATGATCACGGAAGCCTT	0.577													G	20929406	A	G	20929406	3	3	8	1	0	0	0	0	1	0	0	0	9433	159	6	3	1193	3	MED15	22	20929406	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	132925	20929406	30375160	1600	8622											
SLC7A4	6545	broad.mit.edu	37	chr22	21385960	21385960	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccgagcccaccatgccacCcacgcccagaagagtcaggt	9	18	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:21385960C>A	uc002zud.2	-	2	210	c.142G>T	c.(142-144)GGT>TGT	p.G48C	SLC7A4_uc002zue.2_Missense_Mutation_p.G48C	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	48	Helical; (Potential).				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACCATGCCACCCACGCCCAGA	0.657													A	21385960	C	A	21385960	3	1	8	1	0	0	0	0	1	0	0	0	14699	623	22	5	1781	5	SLC7A4	22	21385960	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	456554	21385960	29918606	1601	8623											
ZNF280A	129025	broad.mit.edu	37	chr22	22869868	22869868	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaacatagatcagatctggAtcttcatcatcctcctccct	4	15	5	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:22869868A>T	uc002zwe.2	-	2	340	c.87T>A	c.(85-87)GAT>GAA	p.D29E	LOC96610_uc011aim.1_Intron	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TCAGATCTGGATCTTCATCAT	0.368													T	22869868	A	T	22869868	3	4	8	1	0	0	0	0	1	0	0	0	17811	330	12	5	1545	5	ZNF280A	22	22869868	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	1483908	22869868	28434698	1602	8624											
SMARCB1	6598	broad.mit.edu	37	chr22	24134057	24134057	+	Splice_Site	DEL	A	A	-													tagttgcatcgtcacatggtAaaaaaacaaaacctaacact							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:24134056_24134056TA>T	uc002zyd.3	+	2	412	c.205_splice	c.e2+2	p.D69_splice	SMARCB1_uc002zyg.2_Frame_Shift_Del_p.G69fs|SMARCB1_uc011ajb.1_Splice_Site_p.D69_splice|SMARCB1_uc002zya.3_Frame_Shift_Del_p.G69fs|SMARCB1_uc002zyb.3_Frame_Shift_Del_p.G69fs|SMARCB1_uc002zyc.3_Splice_Site_p.D69_splice|SMARCB1_uc002zye.1_Frame_Shift_Del_p.G32fs|SMARCB1_uc002zyf.1_Splice_Site|SMARCB1_uc010gue.1_Splice_Site	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	78					DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CGTCACATGGTAAAAAAACAA	0.438			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid							-	24134057	A	-	24134057	8	5	8	1	0	1	0	1	0	0	1	0	14774	363	13	0	214	0	SMARCB1	22	24134057	Splice_Site	DEL	A	TCGA-BR-4201-01A-01D-1126-08	1264189	24134057	27170509	1603	8625											
SLC2A11	66035	broad.mit.edu	37	chr22	24226083	24226083	+	Frame_Shift_Del	DEL	G	G	-													agctggggtggatgagggctGgggggtccaggccgggctga							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:24226082_24226082TG>T	uc011ajc.1	+	8	1517	c.1027_1027TG>T	c.(1027-1029)tggfs	p.W343fs	SLC2A11_uc002zyl.1_3'UTR|SLC2A11_uc002zym.4_Intron|SLC2A11_uc002zyn.4_Intron|SLC2A11_uc002zyo.4_Intron|SLC2A11_uc002zyp.4_Intron			Q9BYW1	GTR11_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA.	345						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GGATGAGGGCTGGGGGGTCCA	0.667													-	24226083	G	-	24226083	7	5	8	1	0	1	0	1	0	0	0	0	14540	1363	47	0		0	SLC2A11	22	24226083	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	92026	24226083	27078483	1604	8626											
CABIN1	23523	broad.mit.edu	37	chr22	24573539	24573539	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgcgagtgagactcagccCctgagctctcccccaacagc	10	17	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:24573539C>A	uc002zzi.1	+	36	6400	c.6273C>A	c.(6271-6273)CCC>CCA	p.P2091P	CABIN1_uc002zzj.1_Silent_p.P2012P|CABIN1_uc002zzl.1_Silent_p.P2091P|CABIN1_uc010gul.1_Silent_p.P29P	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2091					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						AGACTCAGCCCCTGAGCTCTC	0.647													A	24573539	C	A	24573539	2	1	8	1	0	0	0	0	0	0	0	1	2528	610	22	5		5	CABIN1	22	24573539	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	347456	24573539	26731027	1605	8627											
C22orf13	83606	broad.mit.edu	37	chr22	24939903	24939903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctggtagtcaggagtgcGgcagaagcagtggtggccac	17	10	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:24939903G>A	uc003aah.2	-	5	851	c.535C>T	c.(535-537)CGC>TGC	p.R179C	C22orf13_uc003aal.2_Missense_Mutation_p.R235C|C22orf13_uc003aai.3_Missense_Mutation_p.R136C|C22orf13_uc003aaj.3_Missense_Mutation_p.R179C|C22orf13_uc003aak.3_Missense_Mutation_p.R235C	NM_031444	NP_113632	Q96NT3	CV013_HUMAN	chromosome 22 open reading frame 13	179											0						TCAGGAGTGCGGCAGAAGCAG	0.617													A	24939903	G	A	24939903	3	1	8	1	0	0	0	0	1	0	0	0	2135	1116	39	1	195	1	C22orf13	22	24939903	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	366364	24939903	26364663	1606	8628											
SGSM1	129049	broad.mit.edu	37	chr22	25246318	25246318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaacttgtccccacttgCcatcaagcatctgtggattc	7	15	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:25246318C>T	uc003abg.2	+	5	531	c.374C>T	c.(373-375)GCC>GTC	p.A125V	SGSM1_uc003abh.2_Missense_Mutation_p.A125V|SGSM1_uc010guu.1_Missense_Mutation_p.A125V|SGSM1_uc003abj.2_Missense_Mutation_p.A125V|SGSM1_uc003abi.1_Missense_Mutation_p.A100V|SGSM1_uc003abf.2_Missense_Mutation_p.A125V	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	125	RUN.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						TCCCCACTTGCCATCAAGCAT	0.448											OREG0026418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	25246318	C	T	25246318	3	4	8	1	0	0	0	0	1	0	0	0	14222	739	26	2	392	2	SGSM1	22	25246318	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	306415	25246318	26058248	1607	8629											
SGSM1	129049	broad.mit.edu	37	chr22	25264717	25264717	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttcctaaactgcgcaagCgaagccctcagggttctgcc	10	13	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:25264717C>T	uc003abg.2	+	12	1343	c.1186C>T	c.(1186-1188)CGA>TGA	p.R396*	SGSM1_uc003abh.2_Nonsense_Mutation_p.R396*|SGSM1_uc010guu.1_Nonsense_Mutation_p.R396*|SGSM1_uc003abj.2_Nonsense_Mutation_p.R396*|SGSM1_uc003abi.1_Nonsense_Mutation_p.R371*	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	396						Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						ACTGCGCAAGCGAAGCCCTCA	0.502													T	25264717	C	T	25264717	4	4	8	1	0	0	0	0	0	1	0	0	14222	760	27	1	1232	1	SGSM1	22	25264717	Nonsense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	18399	25264717	26039849	1608	8630											
ADRBK2	157	broad.mit.edu	37	chr22	26091137	26091137	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggcctatgacagcagtgcCgactggttctccctgggctg	13	13	1	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:26091137C>T	uc003abx.3	+	13	1263	c.1116C>T	c.(1114-1116)GCC>GCT	p.A372A	ADRBK2_uc010gux.2_Silent_p.A372A|ADRBK2_uc003abw.2_Silent_p.A259A|ADRBK2_uc003aby.3_RNA	NM_005160	NP_005151	P35626	ARBK2_HUMAN	beta-adrenergic receptor kinase 2	372	Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7					Adenosine triphosphate(DB00171)	ACAGCAGTGCCGACTGGTTCT	0.532													T	26091137	C	T	26091137	2	4	8	1	0	0	0	0	0	0	0	1	344	639	23	1		1	ADRBK2	22	26091137	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	826420	26091137	25213429	1609	8631											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31850237	31850237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttgtcgattgttggttaCggcactcaaggtctcttcta	10	9	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:31850237C>T	uc003akz.1	-	10	1569	c.1405G>A	c.(1405-1407)GTA>ATA	p.V469I	EIF4ENIF1_uc003akx.1_Missense_Mutation_p.V148I|EIF4ENIF1_uc003aky.1_Missense_Mutation_p.V148I|EIF4ENIF1_uc003ala.1_Missense_Mutation_p.V469I|EIF4ENIF1_uc003alb.1_Missense_Mutation_p.V306I|EIF4ENIF1_uc003akw.1_5'Flank	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E	469						nucleus	protein binding|protein transporter activity			ovary(1)	1						TTGTTGGTTACGGCACTCAAG	0.493													T	31850237	C	T	31850237	3	4	8	1	0	0	0	0	1	0	0	0	5035	536	19	1	1595	1	EIF4ENIF1	22	31850237	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	5759100	31850237	19454329	1610	8632											
MB	4151	broad.mit.edu	37	chr22	36003418	36003418	+	Frame_Shift_Del	DEL	C	C	-													ctccagggccttgttcatggCcccctgggcatcagcaccaa							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:36003417_36003417GC>G	uc003anz.3	-	2	472	c.392_392GC>C	c.(391-393)gccfs	p.A131fs	MB_uc003aoa.3_Frame_Shift_Del_p.A131fs|MB_uc003aob.3_Frame_Shift_Del_p.A131fs	NM_005368	NP_976312	P02144	MYG_HUMAN	Homo sapiens myoglobin (MB), transcript variant 1, mRNA.	131							heme binding|oxygen transporter activity			lung(1)	1						CTTGTTCATGGCCCCCTGGGC	0.607													-	36003418	C	-	36003418	7	5	8	1	0	1	0	1	0	0	0	0	9341	739	26	0	77	0	MB	22	36003418	Frame_Shift_Del	DEL	C	TCGA-BR-4201-01A-01D-1126-08	4153181	36003418	15301148	1611	8633											
MYH9	4627	broad.mit.edu	37	chr22	36696961	36696961	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgctcctcctcctccTccaccctggcctctaggtca	8	20	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:36696961T>A	uc003apg.2	-	22	3005	c.2774A>T	c.(2773-2775)GAG>GTG	p.E925V	MYH9_uc003aph.1_Missense_Mutation_p.E789V	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	925	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CTCCTCCTCCTCCACCCTGGC	0.647			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				A	36696961	T	A	36696961	3	1	8	1	0	0	0	0	1	0	0	0	10042	1551	54	5	3188	5	MYH9	22	36696961	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	693543	36696961	14607605	1612	8634											
GGA1	26088	broad.mit.edu	37	chr22	38026101	38026101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccctgccagcaagcagcGgtctggacgacctagacctc	10	16	1	1	rs150957887		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:38026101G>A	uc003atc.2	+	13	1620	c.1255G>A	c.(1255-1257)GGT>AGT	p.G419S	GGA1_uc003atd.2_Missense_Mutation_p.G332S|GGA1_uc003ate.2_Missense_Mutation_p.G419S|GGA1_uc003atf.2_Missense_Mutation_p.G346S	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	419	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					AGCAAGCAGCGGTCTGGACGA	0.672													A	38026101	G	A	38026101	3	1	8	1	0	0	0	0	1	0	0	0	6352	1116	39	1	1371	1	GGA1	22	38026101	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1329140	38026101	13278465	1613	8635											
SH3BP1	23616	broad.mit.edu	37	chr22	38039705	38039705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggcctaggaggcagcccGggtagtcacagccatacgac	13	13	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:38039705G>A	uc003ati.2	+	7	639	c.528G>A	c.(526-528)CCG>CCA	p.P176P	SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_Silent_p.P176P|SH3BP1_uc003ath.1_Silent_p.P176P|SH3BP1_uc003atj.1_Silent_p.P112P|SH3BP1_uc003atk.1_Silent_p.P90P|uc003atl.1_RNA	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	176	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					GAGGCAGCCCGGGTAGTCACA	0.582											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	38039705	G	A	38039705	2	1	8	1	0	0	0	0	0	0	0	1	14244	1103	39	1		1	SH3BP1	22	38039705	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	13604	38039705	13264861	1614	8636											
BAIAP2L2	80115	broad.mit.edu	37	chr22	38493188	38493188	+	Splice_Site	DEL	G	G	-													cagccggttcacactctcctGggggggaacgggagttctgg					rs147219790	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:38493187_38493187TG>T	uc003auw.3	-	7	610	c.466_splice	c.e7-1	p.E156_splice		NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	Homo sapiens BAI1-associated protein 2-like 2 (BAIAP2L2), mRNA.	156	IMD.				filopodium assembly|signal transduction		SH3 domain binding|cytoskeletal adaptor activity			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CACACTCTCCTGGGGGGGAAC	0.637													-	38493188	G	-	38493188	8	5	8	1	0	1	0	1	0	0	1	0	1303	1363	47	0		0	BAIAP2L2	22	38493188	Splice_Site	DEL	G	TCGA-BR-4201-01A-01D-1126-08	453483	38493188	12811378	1615	8637											
SMCR7L	54471	broad.mit.edu	37	chr22	39910152	39910152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtctccggatatgctggccGaccgtttcctgcaggccttg	13	13	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:39910152G>A	uc003axx.2	+	6	1714	c.1216G>A	c.(1216-1218)GAC>AAC	p.D406N	SMCR7L_uc003axw.2_Missense_Mutation_p.D406N|SMCR7L_uc010gxz.1_Missense_Mutation_p.D228N|SMCR7L_uc003axy.2_Missense_Mutation_p.D228N	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	406						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)					TATGCTGGCCGACCGTTTCCT	0.592											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	39910152	G	A	39910152	3	1	8	1	0	0	0	0	1	0	0	0	14791	1058	37	1	1230	1	SMCR7L	22	39910152	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	1416964	39910152	11394414	1616	8638											
MKL1	57591	broad.mit.edu	37	chr22	40807697	40807697	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggggctctggcccgtcAtgcccactggtcagcagggg	16	12	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:40807697A>G	uc003ayv.1	-	12	2700	c.2493T>C	c.(2491-2493)CAT>CAC	p.H831H	MKL1_uc003ayw.1_Silent_p.H831H|MKL1_uc010gye.1_3'UTR|MKL1_uc010gyf.1_Silent_p.H781H	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	831					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CTGGCCCGTCATGCCCACTGG	0.672			T	RBM15	acute megakaryocytic leukemia								G	40807697	A	G	40807697	2	3	8	1	0	0	0	0	0	0	0	1	9601	214	8	3		3	MKL1	22	40807697	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	897545	40807697	10496869	1617	8639											
EP300	2033	broad.mit.edu	37	chr22	41513716	41513716	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggcgacagaatatgcagtAcccaaacccaggcatgggaa	12	10	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:41513716A>G	uc003azl.3	+	2	1015	c.620A>G	c.(619-621)TAC>TGC	p.Y207C		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	207					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						AATATGCAGTACCCAAACCCA	0.537			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				G	41513716	A	G	41513716	3	3	8	1	0	0	0	0	1	0	0	0	5148	391	14	3	626	3	EP300	22	41513716	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	706019	41513716	9790850	1618	8640											
EP300	2033	broad.mit.edu	37	chr22	41523693	41523693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaaccttccccactgtcGcacaatgaagaatgtcctaa	7	13	0	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:41523693G>A	uc003azl.3	+	4	1504	c.1109G>A	c.(1108-1110)CGC>CAC	p.R370H		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	370	TAZ-type 1.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CCCCACTGTCGCACAATGAAG	0.517			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				A	41523693	G	A	41523693	3	1	8	1	0	0	0	0	1	0	0	0	5148	1087	38	1	1123	1	EP300	22	41523693	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	9977	41523693	9780873	1619	8641											
PARVB	29780	broad.mit.edu	37	chr22	44536011	44536011	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgtttgcaggatgatgAtgggccggttcggtaagtaa	14	5	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:44536011A>G	uc003ben.2	+	8	752	c.700A>G	c.(700-702)ATG>GTG	p.M234V	PARVB_uc003bem.2_Missense_Mutation_p.M267V|PARVB_uc010gzn.2_Missense_Mutation_p.M182V|PARVB_uc003beo.2_Missense_Mutation_p.M197V	NM_013327	NP_037459	Q9HBI1	PARVB_HUMAN	parvin, beta isoform b	234					cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding				0		Ovarian(80;0.0246)|all_neural(38;0.0423)				CAGGATGATGATGGGCCGGTT	0.542													G	44536011	A	G	44536011	3	3	8	1	0	0	0	0	1	0	0	0	11469	333	12	3	949	3	PARVB	22	44536011	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	3012318	44536011	6768555	1620	8642											
KIAA1644	85352	broad.mit.edu	37	chr22	44681393	44681393	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgtggggcttgtggcaGcgggcctgggggaggctgcg	23	9	0	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:44681393G>A	uc003bet.2	-	4	647	c.514C>T	c.(514-516)CTG>TTG	p.L172L		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	hypothetical protein LOC85352 precursor	172	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				GCTTGTGGCAGCGGGCCTGGG	0.687													A	44681393	G	A	44681393	2	1	8	1	0	0	0	0	0	0	0	1	8250	962	34	2		2	KIAA1644	22	44681393	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	145382	44681393	6623173	1621	8643											
BRD1	23774	broad.mit.edu	37	chr22	50217191	50217191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgactgcaggcagtggcGgcagagccactggccctcgg	16	15	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:50217191G>A	uc003biv.2	-	1	1262	c.775C>T	c.(775-777)CGC>TGC	p.R259C	BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Missense_Mutation_p.R259C|BRD1_uc011arh.1_Missense_Mutation_p.R259C|BRD1_uc003biu.3_Missense_Mutation_p.R259C	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	259	PHD-type.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGGCAGTGGCGGCAGAGCCAC	0.642													A	50217191	G	A	50217191	3	1	8	1	0	0	0	0	1	0	0	0	1501	1116	39	1	2449	1	BRD1	22	50217191	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	5535798	50217191	1087375	1622	8644											
ZBED4	9889	broad.mit.edu	37	chr22	50278153	50278153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccacttccaaagagcacCtctgggtccaggagaaggtc	10	13	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:50278153C>T	uc003bix.2	+	2	1313	c.843C>T	c.(841-843)ACC>ACT	p.T281T		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	281						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CAAAGAGCACCTCTGGGTCCA	0.557													T	50278153	C	T	50278153	2	4	8	1	0	0	0	0	0	0	0	1	17517	668	24	4		4	ZBED4	22	50278153	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	60962	50278153	1026413	1623	8645											
TTLL8	164714	broad.mit.edu	37	chr22	50487735	50487735	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttcttgattttctttgacTttggcacatgtatcatctgc	6	8	4	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:50487735T>G	uc011ark.1	-	3	207	c.207A>C	c.(205-207)AAA>AAC	p.K69N		NM_001080447	NP_001073916			tubulin tyrosine ligase-like family, member 8											ovary(2)	2		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TTTCTTTGACTTTGGCACATG	0.532													G	50487735	T	G	50487735	3	3	8	1	0	0	0	0	1	0	0	0	16730	1606	56	5	2344	5	TTLL8	22	50487735	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	209582	50487735	816831	1624	8646											
TUBGCP6	85378	broad.mit.edu	37	chr22	50671772	50671772	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcgaaaacgtggcagacacGaccccaatcaagacgttcag	10	12	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:50671772G>A	uc003bkb.1	-	3	1601	c.1089C>T	c.(1087-1089)GTC>GTT	p.V363V	TUBGCP6_uc010har.1_Silent_p.V363V|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	363					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGGCAGACACGACCCCAATCA	0.642													A	50671772	G	A	50671772	2	1	8	1	0	0	0	0	0	0	0	1	16767	1045	37	1		1	TUBGCP6	22	50671772	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	184037	50671772	632794	1625	8647											
PPP2R3B	28227	broad.mit.edu	37	chrX	306335	306335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaacttgcagtagatgaCgtagaaatgctcgtacgaga	11	8	0	5			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:306335C>T	uc004cpg.2	-	7	1153	c.952G>A	c.(952-954)GTC>ATC	p.V318I	PPP2R3B_uc011mha.1_Missense_Mutation_p.V157I	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	318					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGTAGATGACGTAGAAATGC	0.617													T	306335	C	T	306335	3	4	8	1	0	0	0	0	1	0	0	0	12389	536	19	1	803	1	PPP2R3B	23	306335	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08		306335	154964225	1626	8648											
TLR8	51311	broad.mit.edu	37	chrX	12939516	12939516	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattggagatttccgaagatGgatggatgaacatctgaatg	12	5	1	4			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:12939516G>T	uc004cve.2	+	2	2425	c.2357G>T	c.(2356-2358)TGG>TTG	p.W786L	TLR8_uc004cvd.2_Missense_Mutation_p.W804L	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	786	Extracellular (Potential).|LRRCT.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						TTCCGAAGATGGATGGATGAA	0.438													T	12939516	G	T	12939516	3	4	8	1	0	0	0	0	1	0	0	0	15954	1357	47	5	2363	5	TLR8	23	12939516	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	12633181	12939516	142331044	1627	8649											
BMX	660	broad.mit.edu	37	chrX	15543416	15543416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcttttttgcagtagcaGcagcagtgaagatgttgcaa	11	7	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:15543416G>A	uc004cww.2	+	8	946	c.758G>A	c.(757-759)AGC>AAC	p.S253N	BMX_uc004cwx.3_Missense_Mutation_p.S253N|BMX_uc004cwy.3_Missense_Mutation_p.S253N	NM_203281	NP_975010	P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	253	Poly-Ser.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(3)|ovary(2)	5	Hepatocellular(33;0.183)					TGCAGTAGCAGCAGCAGTGAA	0.294													A	15543416	G	A	15543416	3	1	8	1	0	0	0	0	1	0	0	0	1473	971	34	2	784	2	BMX	23	15543416	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	2603900	15543416	139727144	1628	8650											
ACE2	59272	broad.mit.edu	37	chrX	15585915	15585915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagcatatgcaacagatgatCggaacaggtacatttcattg	9	7	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:15585915C>T	uc004cxa.1	-	15	2099	c.1931G>A	c.(1930-1932)CGA>CAA	p.R644Q	ACE2_uc004cxb.2_Missense_Mutation_p.R644Q	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2 precursor	644	Extracellular (Potential).				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			ovary(3)	3	Hepatocellular(33;0.183)				Moexipril(DB00691)	AACAGATGATCGGAACAGGTA	0.373													T	15585915	C	T	15585915	3	4	8	1	0	0	0	0	1	0	0	0	137	884	31	1	502	1	ACE2	23	15585915	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	42499	15585915	139684645	1629	8651											
NHS	4810	broad.mit.edu	37	chrX	17705908	17705908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgagtgtgtactaccgCgccccgtggcaccagcagcg	13	14	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:17705908C>T	uc004cxx.2	+	2	950	c.612C>T	c.(610-612)CGC>CGT	p.R204R	NHS_uc011mix.1_Silent_p.R204R|NHS_uc004cxy.2_Silent_p.R27R|NHS_uc004cxz.2_Silent_p.R27R|NHS_uc004cya.2_5'UTR	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	204						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					TGTACTACCGCGCCCCGTGGC	0.602													T	17705908	C	T	17705908	2	4	8	1	0	0	0	0	0	0	0	1	10411	755	27	1		1	NHS	23	17705908	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	2119993	17705908	137564652	1630	8652											
PHEX	5251	broad.mit.edu	37	chrX	22117151	22117151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgggctacatcaagaagGtcattgacaccagactctac	10	11	3	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:22117151G>A	uc004dah.2	+	9	1164	c.961G>A	c.(961-963)GTC>ATC	p.V321I	PHEX_uc011mjr.1_Missense_Mutation_p.V321I|PHEX_uc011mjs.1_Missense_Mutation_p.V224I	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	321	Extracellular (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3						CATCAAGAAGGTCATTGACAC	0.473													A	22117151	G	A	22117151	3	1	8	1	0	0	0	0	1	0	0	0	11819	1261	44	4	995	4	PHEX	23	22117151	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	4411243	22117151	133153409	1631	8653											
DCAF8L1	139425	broad.mit.edu	37	chrX	27997798	27997798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctgtaacaggtgacgcaCgaagaaccgaagcatgcggt	12	10	1	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:27997798C>T	uc004dbx.1	-	1	1769	c.1654G>A	c.(1654-1656)GTG>ATG	p.V552M		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	552										ovary(3)|skin(1)	4						AGGTGACGCACGAAGAACCGA	0.478													T	27997798	C	T	27997798	3	4	8	1	0	0	0	0	1	0	0	0	4277	536	19	1	152	1	DCAF8L1	23	27997798	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	5880647	27997798	127272762	1632	8654											
DMD	1756	broad.mit.edu	37	chrX	31676228	31676228	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcatttgccacatctacatTtgtctgccactggcggaggt	10	11	3	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:31676228T>G	uc004dda.1	-	54	8150	c.7906A>C	c.(7906-7908)AAT>CAT	p.N2636H	DMD_uc004dcr.1_Missense_Mutation_p.N176H|DMD_uc004dcs.1_Missense_Mutation_p.N176H|DMD_uc004dct.1_Missense_Mutation_p.N176H|DMD_uc004dcu.1_Missense_Mutation_p.N176H|DMD_uc004dcv.1_Missense_Mutation_p.N176H|DMD_uc004dcw.2_Missense_Mutation_p.N1292H|DMD_uc004dcx.2_Missense_Mutation_p.N1295H|DMD_uc004dcz.2_Missense_Mutation_p.N2513H|DMD_uc004dcy.1_Missense_Mutation_p.N2632H|DMD_uc004ddb.1_Missense_Mutation_p.N2628H	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2636	Spectrin 18.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACATCTACATTTGTCTGCCAC	0.403													G	31676228	T	G	31676228	3	3	8	1	0	0	0	0	1	0	0	0	4580	1841	64	5	3403	5	DMD	23	31676228	Missense_Mutation	SNP	T	TCGA-BR-4201-01A-01D-1126-08	3678430	31676228	123594332	1633	8655											
DMD	1756	broad.mit.edu	37	chrX	31792185	31792185	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtcggtaagttctgtccaAgcccggttgaaatctgccag	11	11	2	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:31792185A>G	uc004dda.1	-	51	7678	c.7434T>C	c.(7432-7434)GCT>GCC	p.A2478A	DMD_uc004dcr.1_Silent_p.A18A|DMD_uc004dcs.1_Silent_p.A18A|DMD_uc004dct.1_Silent_p.A18A|DMD_uc004dcu.1_Silent_p.A18A|DMD_uc004dcv.1_Silent_p.A18A|DMD_uc004dcw.2_Silent_p.A1134A|DMD_uc004dcx.2_Silent_p.A1137A|DMD_uc004dcz.2_Silent_p.A2355A|DMD_uc004dcy.1_Silent_p.A2474A|DMD_uc004ddb.1_Silent_p.A2470A|DMD_uc004ddd.1_Silent_p.A18A	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2478	Spectrin 17.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTCTGTCCAAGCCCGGTTGA	0.458													G	31792185	A	G	31792185	2	3	8	1	0	0	0	0	0	0	0	1	4580	59	3	3		3	DMD	23	31792185	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	115957	31792185	123478375	1634	8656											
USP11	8237	broad.mit.edu	37	chrX	47098875	47098875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggccagccacccattgaaCgcaaggtataatggatgggg	13	9	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:47098875C>T	uc004dhp.2	+	3	541	c.541C>T	c.(541-543)CGC>TGC	p.R181C	USP11_uc004dhq.2_Translation_Start_Site	NM_004651	NP_004642	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	181	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)|lung(1)|central_nervous_system(1)	3						ACCCATTGAACGCAAGGTATA	0.557													T	47098875	C	T	47098875	3	4	8	1	0	0	0	0	1	0	0	0	17039	536	19	1	551	1	USP11	23	47098875	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	15306690	47098875	108171685	1635	8657											
PAGE1	8712	broad.mit.edu	37	chrX	49459349	49459349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcattggtctacgccgatAgattaatcttcttagaaaac	7	8	4	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:49459349A>G	uc004dom.2	-	2	158	c.25T>C	c.(25-27)TAT>CAT	p.Y9H		NM_003785	NP_003776	O75459	GAGB1_HUMAN	P antigen family, member 1	9					cellular defense response					skin(1)	1	Ovarian(276;0.236)					CTACGCCGATAGATTAATCTT	0.373													G	49459349	A	G	49459349	3	3	8	1	0	0	0	0	1	0	0	0	11389	420	15	3	435	3	PAGE1	23	49459349	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	2360474	49459349	105811211	1636	8658											
KDM5C	8242	broad.mit.edu	37	chrX	53228052	53228052	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcatggcaggaagctcAtccaaggtataccgatacct	10	11	1	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:53228052A>G	uc004drz.2	-	16	2795	c.2262T>C	c.(2260-2262)GAT>GAC	p.D754D	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Silent_p.D687D|KDM5C_uc004dsa.2_Silent_p.D753D	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	754					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						CAGGAAGCTCATCCAAGGTAT	0.582			N|F|S		clear cell renal carcinoma								G	53228052	A	G	53228052	2	3	8	1	0	0	0	0	0	0	0	1	8135	214	8	3		3	KDM5C	23	53228052	Silent	SNP	A	TCGA-BR-4201-01A-01D-1126-08	3768703	53228052	102042508	1637	8659											
MAGEE1	57692	broad.mit.edu	37	chrX	75650343	75650343	+	Frame_Shift_Del	DEL	A	A	-													aaattctgaagttcatggcgAaaatatataacaaagatcct							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:75650342_75650342GA>G	uc004ecm.2	+	0	2297	c.2019_2019GA>G	c.(2017-2019)gcgfs	p.A673fs		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	673	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AGTTCATGGCGAAAATATATA	0.463													-	75650343	A	-	75650343	7	5	8	1	0	1	0	1	0	0	0	0	9185	247	9	0	2022	0	MAGEE1	23	75650343	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	22422291	75650343	79620217	1638	8660											
FAM133A	286499	broad.mit.edu	37	chrX	92964950	92964950	+	Frame_Shift_Del	DEL	A	A	-													aggatgtaagaagcctcagcAaaaaaagaaagaaaagttac							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:92964949_92964949CA>C	uc022bzw.1	+	2	968	c.531_531CA>C	c.(529-531)agcfs	p.S177fs	FAM133A_uc022bzu.1_Frame_Shift_Del_p.S177fs|FAM133A_uc004efr.2_Frame_Shift_Del_p.S177fs|FAM133A_uc022bzv.1_Frame_Shift_Del_p.S177fs|FAM133A_uc022bzx.1_Frame_Shift_Del_p.S177fs	NM_001171111	NP_775969	Q8N9E0	F133A_HUMAN	Homo sapiens family with sequence similarity 133, member A (FAM133A), transcript variant 4, mRNA.	177	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						GAAGCCTCAGCAAAAAAAGAA	0.363													-	92964950	A	-	92964950	7	5	8	1	0	1	0	1	0	0	0	0	5443	131	5	0	534	0	FAM133A	23	92964950	Frame_Shift_Del	DEL	A	TCGA-BR-4201-01A-01D-1126-08	17314607	92964950	62305610	1639	8661											
XKRX	402415	broad.mit.edu	37	chrX	100169759	100169759	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcaggaccaccagagtgccGacccggctgaagtttttctc	10	13	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:100169759G>A	uc004egn.2	-	3	1523	c.918C>T	c.(916-918)GTC>GTT	p.V306V	XKRX_uc011mre.1_Silent_p.V102V	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	306	Helical; (Potential).					integral to membrane|plasma membrane				breast(1)	1						CCAGAGTGCCGACCCGGCTGA	0.498													A	100169759	G	A	100169759	2	1	8	1	0	0	0	0	0	0	0	1	17436	1045	37	1		1	XKRX	23	100169759	Silent	SNP	G	TCGA-BR-4201-01A-01D-1126-08	7204809	100169759	55100801	1640	8662											
DCX	1641	broad.mit.edu	37	chrX	110644445	110644445	+	Frame_Shift_Del	DEL	G	G	-													gttgctgctagccaaggactGgggggctttcatattggcag							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:110644444_110644444TG>T	uc004epd.3	-	2	894	c.722_722CA>A	c.(721-723)cagfs	p.Q241fs	DCX_uc011msv.2_Frame_Shift_Del_p.Q241fs|DCX_uc004epe.3_Frame_Shift_Del_p.Q160fs|DCX_uc004epf.3_Frame_Shift_Del_p.Q160fs|DCX_uc004epg.3_Frame_Shift_Del_p.Q160fs	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	241					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGCCAAGGACTGGGGGGCTTT	0.507													-	110644445	G	-	110644445	7	5	8	1	0	1	0	1	0	0	0	0	4318	1357	47	0	639	0	DCX	23	110644445	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	10474686	110644445	44626115	1641	8663											
AMOT	154796	broad.mit.edu	37	chrX	112035060	112035060	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcctttaagttctccatacCtgctggattctcagggattc	7	11	2	0			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:112035060C>A	uc004epr.2	-	6	1926	c.1926G>T	c.(1924-1926)CAG>CAT	p.Q642H	AMOT_uc004eps.2_Missense_Mutation_p.Q233H	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	642	Potential.				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						TTCTCCATACCTGCTGGATTC	0.443													A	112035060	C	A	112035060	3	1	8	1	0	0	0	0	1	0	0	0	582	695	24	5	1352	5	AMOT	23	112035060	Missense_Mutation	SNP	C	TCGA-BR-4201-01A-01D-1126-08	1390615	112035060	43235500	1642	8664											
DOCK11	139818	broad.mit.edu	37	chrX	117722266	117722266	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaattaaaatacgatagCcagaaaacatttgccaaggt	7	8	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:117722266C>T	uc004eqp.2	+	17	2025	c.1962C>T	c.(1960-1962)AGC>AGT	p.S654S	DOCK11_uc004eqq.2_Silent_p.S420S	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	654	DHR-1.				blood coagulation	cytosol	GTP binding			ovary(3)	3						AATACGATAGCCAGAAAACAT	0.294													T	117722266	C	T	117722266	2	4	8	1	0	0	0	0	0	0	0	1	4686	738	26	2		2	DOCK11	23	117722266	Silent	SNP	C	TCGA-BR-4201-01A-01D-1126-08	5687206	117722266	37548294	1643	8665											
THOC2	57187	broad.mit.edu	37	chrX	122805587	122805587	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgctgcaactctgtataaaGatgatggtgtctcgccattt	9	9	2	2			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:122805587G>C	uc004etu.2	-	9	826	c.794C>G	c.(793-795)TCT>TGT	p.S265C	THOC2_uc011muh.1_Missense_Mutation_p.S186C|THOC2_uc011mui.1_Missense_Mutation_p.S150C	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	265					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						TCTGTATAAAGATGATGGTGT	0.323													C	122805587	G	C	122805587	3	2	8	1	0	0	0	0	1	0	0	0	15862	942	33	5	4107	5	THOC2	23	122805587	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	5083321	122805587	32464973	1644	8666											
FGF13	2258	broad.mit.edu	37	chrX	137939823	137939823	+	Frame_Shift_Del	DEL	G	G	-													taatgtattcctgtgtgccaGggggggcgtcatccagaact							TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:137939822_137939822AG>A	uc004faq.3	-	1	245	c.69_69CT>T	c.(67-69)cctfs	p.P23fs	FGF13_uc011mwi.2_5'UTR|FGF13_uc004far.3_5'UTR|FGF13_uc011mwj.2_Frame_Shift_Del_p.P23fs|FGF13_uc011mwk.2_Intron	NM_001139502	NP_001132974	Q92913	FGF13_HUMAN	Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 5, mRNA.	0					MAPKKK cascade|cell-cell signaling|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CCTGTGTGCCAGGGGGGGCGT	0.428													-	137939823	G	-	137939823	7	5	8	1	0	1	0	1	0	0	0	0	5842	1000	35	0	942	0	FGF13	23	137939823	Frame_Shift_Del	DEL	G	TCGA-BR-4201-01A-01D-1126-08	15134236	137939823	17330737	1645	8667											
MAMLD1	10046	broad.mit.edu	37	chrX	149639052	149639052	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgctgccctggggcccgccAtgccctatgctcctgagaag	12	15	0	1			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:149639052A>G	uc004fee.1	+	3	1283	c.1207A>G	c.(1207-1209)ATG>GTG	p.M403V	MAMLD1_uc011mxt.1_Missense_Mutation_p.M365V|MAMLD1_uc011mxu.1_Missense_Mutation_p.M378V|MAMLD1_uc011mxv.1_Missense_Mutation_p.M378V|MAMLD1_uc011mxw.1_Missense_Mutation_p.M330V	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	403					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGCCCGCCATGCCCTATGC	0.587													G	149639052	A	G	149639052	3	3	8	1	0	0	0	0	1	0	0	0	9208	217	8	3	1217	3	MAMLD1	23	149639052	Missense_Mutation	SNP	A	TCGA-BR-4201-01A-01D-1126-08	11699229	149639052	5631508	1646	8668											
SRPK3	26576	broad.mit.edu	37	chrX	153050422	153050422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccactggtgactacctgttcGagccgcattctggagaagac	11	12	1	3			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:153050422G>A	uc004fil.2	+	13	1422	c.1390G>A	c.(1390-1392)GAG>AAG	p.E464K	SRPK3_uc004fik.2_Missense_Mutation_p.E530K|SRPK3_uc010nul.2_Missense_Mutation_p.E388K|SRPK3_uc004fin.2_Missense_Mutation_p.E463K|SRPK3_uc004fim.2_Missense_Mutation_p.E430K	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	serine arginine rich protein-specific kinase 3	464	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			pancreas(2)|lung(1)	3	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTACCTGTTCGAGCCGCATTC	0.682													A	153050422	G	A	153050422	3	1	8	1	0	0	0	0	1	0	0	0	15160	1059	37	1	1440	1	SRPK3	23	153050422	Missense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	3411370	153050422	2220138	1647	8669											
MECP2	4204	broad.mit.edu	37	chrX	153296471	153296471	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccacactccccggctttcGgccccgtttcttgggaatgg	10	16	1	0	rs62931162		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:153296471G>A	uc004fjv.2	-	4	1034	c.808C>T	c.(808-810)CGA>TGA	p.R270*	MECP2_uc004fjw.2_Nonsense_Mutation_p.R282*	NM_004992	NP_004983	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 1	270	A.T hook 2.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGGCTTTCGGCCCCGTTTC	0.622													A	153296471	G	A	153296471	4	1	8	1	0	0	0	0	0	1	0	0	9423	1124	39	1	656	1	MECP2	23	153296471	Nonsense_Mutation	SNP	G	TCGA-BR-4201-01A-01D-1126-08	246049	153296471	1974089	1648	8670											
ARID1A	8289	broad.mit.edu	37	chr1	27100312	27100312	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacatgattcctatggcaatCagttctccacccaaggcacc	7	14	2	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr1:27100312C>T	uc001bmv.1	+	17	4397	c.4024C>T	c.(4024-4026)CAG>TAG	p.Q1342*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1341*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1342*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q959*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q188*|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1342	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTATGGCAATCAGTTCTCCAC	0.542			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								T	27100312	C	T	27100312	4	4	9	1	0	0	0	0	0	1	0	0	913	827	29	4	4090	4	ARID1A	1	27100312	Nonsense_Mutation	SNP	C	TCGA-BR-4253-01A-01D-1126-08		27100312	222150309	1	8671											
PODN	127435	broad.mit.edu	37	chr1	53543383	53543383	+	Frame_Shift_Del	DEL	G	G	-													aagctggagaagatccccccGggggccttcagcgagctgag							TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr1:53543382_53543382CG>C	uc001cuv.3	+	6	1076	c.908_908CG>C	c.(907-909)ccgfs	p.P303fs	PODN_uc010onr.2_Frame_Shift_Del_p.P284fs|PODN_uc010ons.2_Frame_Shift_Del_p.P161fs|PODN_uc001cuw.3_Frame_Shift_Del_p.P284fs	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	255					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAGATCCCCCCGGGGGCCTTC	0.612													-	53543383	G	-	53543383	7	5	9	1	0	1	0	1	0	0	0	0	12178	1103	39	0	935	0	PODN	1	53543383	Frame_Shift_Del	DEL	G	TCGA-BR-4253-01A-01D-1126-08	26443071	53543383	195707238	2	8672											
MOV10	4343	broad.mit.edu	37	chr1	113241043	113241043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccccctcctccaagaaGggcaaagctcgcctgagccc	10	18	0	2			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr1:113241043G>A	uc001eck.2	+	16	2721	c.2451G>A	c.(2449-2451)AAG>AAA	p.K817K	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Silent_p.K817K|MOV10_uc001ecm.2_Silent_p.K757K	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	817					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CCTCCAAGAAGGGCAAAGCTC	0.607													A	113241043	G	A	113241043	2	1	9	1	0	0	0	0	0	0	0	1	9718	991	35	4		4	MOV10	1	113241043	Silent	SNP	G	TCGA-BR-4253-01A-01D-1126-08	59697660	113241043	136009578	3	8673											
NGF	4803	broad.mit.edu	37	chr1	115829244	115829244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccacgcgtgcagctatcGccgctgccggggcgctgcgg	16	17	0	0			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr1:115829244G>A	uc001efu.1	-	3	342	c.173C>T	c.(172-174)GCG>GTG	p.A58V		NM_002506	NP_002497	P01138	NGF_HUMAN	nerve growth factor, beta polypeptide precursor	58					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			upper_aerodigestive_tract(2)	2	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TGCAGCTATCGCCGCTGCCGG	0.617													A	115829244	G	A	115829244	3	1	9	1	0	0	0	0	1	0	0	0	10395	1087	38	1	556	1	NGF	1	115829244	Missense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08	2588201	115829244	133421377	4	8674											
CD58	965	broad.mit.edu	37	chr1	117087145	117087145	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttccataggacctcttttAaaggcacattgcttggtaca	7	9	1	0			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr1:117087145A>T	uc001egm.2	-	2	273	c.152T>A	c.(151-153)TTA>TAA	p.L51*	CD58_uc001egn.2_RNA|CD58_uc010owy.1_Nonsense_Mutation_p.L51*|CD58_uc001ego.1_RNA|CD58_uc001egp.3_Nonsense_Mutation_p.L51*	NM_001779	NP_001770	P19256	LFA3_HUMAN	CD58 molecule isoform 1	51	Extracellular (Potential).				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding				0	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		GACCTCTTTTAAAGGCACATT	0.333													T	117087145	A	T	117087145	4	4	9	1	0	0	0	0	0	1	0	0	3025	372	13	5	624	5	CD58	1	117087145	Nonsense_Mutation	SNP	A	TCGA-BR-4253-01A-01D-1126-08	1257901	117087145	132163476	5	8675											
SLAMF1	6504	broad.mit.edu	37	chr1	160589609	160589609	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatcgtaaggcttttttttTccactgttgtctggtaatgg	10	6	1	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr1:160589609T>C	uc001fwl.3	-	5	1167	c.821A>G	c.(820-822)GAA>GGA	p.E274G	SLAMF1_uc010pjk.1_Intron|SLAMF1_uc010pjl.1_Intron|SLAMF1_uc010pjm.1_Intron	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family	274	Cytoplasmic (Potential).|Ig-like V-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GCTTTTTTTTTCCACTGTTGT	0.438													C	160589609	T	C	160589609	3	2	9	1	0	0	0	0	1	0	0	0	14367	1783	62	3	198	3	SLAMF1	1	160589609	Missense_Mutation	SNP	T	TCGA-BR-4253-01A-01D-1126-08	43502464	160589609	88661012	6	8676											
EDEM3	80267	broad.mit.edu	37	chr1	184663564	184663564	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccactctgattctgagaaTcattttcagaggatggttgt	9	8	4	3			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr1:184663564T>A	uc010pok.1	-	20	2693	c.2432A>T	c.(2431-2433)GAT>GTT	p.D811V	EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.D827V	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	811					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1						ATTCTGAGAATCATTTTCAGA	0.358													A	184663564	T	A	184663564	3	1	9	1	0	0	0	0	1	0	0	0	4913	1435	50	5	370	5	EDEM3	1	184663564	Missense_Mutation	SNP	T	TCGA-BR-4253-01A-01D-1126-08	24073955	184663564	64587057	7	8677											
RNF2	6045	broad.mit.edu	37	chr1	185068944	185068944	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacataaagacttctggtaaCgccactgttgatcacttatc	6	10	2	2			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr1:185068944C>T	uc001grc.1	+	6	992	c.759C>T	c.(757-759)AAC>AAT	p.N253N	RNF2_uc001grd.1_Silent_p.N181N|RNF2_uc001gre.1_RNA	NM_007212	NP_009143	Q99496	RING2_HUMAN	ring finger protein 2	253					histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(1)	1		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		CTTCTGGTAACGCCACTGTTG	0.338													T	185068944	C	T	185068944	2	4	9	1	0	0	0	0	0	0	0	1	13472	535	19	1		1	RNF2	1	185068944	Silent	SNP	C	TCGA-BR-4253-01A-01D-1126-08	405380	185068944	64181677	8	8678											
AIDA	64853	broad.mit.edu	37	chr1	222843513	222843513	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccaggtttaatttcatccatCtccatgaaagcaaaacactt	4	11	2	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr1:222843513C>T	uc001hnn.2	-	9	991	c.786G>A	c.(784-786)GAG>GAA	p.E262E	AIDA_uc001hno.2_RNA|AIDA_uc010pus.1_Silent_p.E238E	NM_022831	NP_073742	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	262					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity						0						TTTCATCCATCTCCATGAAAG	0.348													T	222843513	C	T	222843513	2	4	9	1	0	0	0	0	0	0	0	1	423	912	32	4		4	AIDA	1	222843513	Silent	SNP	C	TCGA-BR-4253-01A-01D-1126-08	37774569	222843513	26407108	9	8679											
TLR5	7100	broad.mit.edu	37	chr1	223285929	223285929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttttggatagatccaagcGagttaaagcctttaaatttc	7	6	0	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr1:223285929G>A	uc001hnv.1	-	4	891	c.445C>T	c.(445-447)CGC>TGC	p.R149C	TLR5_uc001hnw.1_Missense_Mutation_p.R149C	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	149	LRR 3.|Extracellular (Potential).				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)		AGATCCAAGCGAGTTAAAGCC	0.368													A	223285929	G	A	223285929	3	1	9	1	0	0	0	0	1	0	0	0	15951	1058	37	1	2135	1	TLR5	1	223285929	Missense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08	442416	223285929	25964692	10	8680											
OR2T4	127074	broad.mit.edu	37	chr1	248525601	248525601	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgtgtcctcatgctccTcatccctgtggtgatcattt	9	12	3	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr1:248525601T>G	uc001ieh.1	+	1	719	c.719T>G	c.(718-720)CTC>CGC	p.L240R		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	240	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCATGCTCCTCATCCCTGTG	0.483													G	248525601	T	G	248525601	3	3	9	1	0	0	0	0	1	0	0	0	11027	1551	54	5	721	5	OR2T4	1	248525601	Missense_Mutation	SNP	T	TCGA-BR-4253-01A-01D-1126-08	25239672	248525601	725020	11	8681											
OR2G6	391211	broad.mit.edu	37	chr1	248685218	248685218	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaataagaaagacaaaAccatgagctacggtggctgt	10	8	0	4			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr1:248685218A>C	uc001ien.1	+	1	271	c.271A>C	c.(271-273)ACC>CCC	p.T91P		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAAAGACAAAACCATGAGCTA	0.517													C	248685218	A	C	248685218	3	2	9	1	0	0	0	0	1	0	0	0	11000	43	2	5	273	5	OR2G6	1	248685218	Missense_Mutation	SNP	A	TCGA-BR-4253-01A-01D-1126-08	159617	248685218	565403	12	8682											
GREB1	9687	broad.mit.edu	37	chr2	11735458	11735458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcaattacgagctggttaCggggaaggtagactcgctgg	15	7	1	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr2:11735458C>T	uc002rbk.1	+	12	2078	c.1778C>T	c.(1777-1779)ACG>ATG	p.T593M	GREB1_uc002rbo.1_Missense_Mutation_p.T227M	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	593						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GAGCTGGTTACGGGGAAGGTA	0.408													T	11735458	C	T	11735458	3	4	9	1	0	0	0	0	1	0	0	0	6760	536	19	1	1928	1	GREB1	2	11735458	Missense_Mutation	SNP	C	TCGA-BR-4253-01A-01D-1126-08		11735458	231463915	13	8683											
NCKAP5	344148	broad.mit.edu	37	chr2	133542728	133542728	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgaggcgtctgcacactTgggcacagcttcatctctaa	9	13	3	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr2:133542728T>G	uc002ttp.2	-	14	2030	c.1656A>C	c.(1654-1656)CCA>CCC	p.P552P	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	552							protein binding				0						TCTGCACACTTGGGCACAGCT	0.552													G	133542728	T	G	133542728	2	3	9	1	0	0	0	0	0	0	0	1	10223	1799	63	5		5	NCKAP5	2	133542728	Silent	SNP	T	TCGA-BR-4253-01A-01D-1126-08	121807270	133542728	109656645	14	8684											
ZEB2	9839	broad.mit.edu	37	chr2	145147018	145147018	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttaaaatgcagtagtttaTtacatgccatcttccatatt	5	8	1	0			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr2:145147018T>G	uc002tvu.2	-	10	4125	c.3645A>C	c.(3643-3645)TAA>TAC	p.*1215Y	ZEB2_uc002tvv.2_Nonstop_Mutation_p.*1209Y|ZEB2_uc010zbm.1_Nonstop_Mutation_p.*1186Y|ZEB2_uc010fnp.2_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	1215						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		CAGTAGTTTATTACATGCCAT	0.418													G	145147018	T	G	145147018	4	3	9	1	0	0	0	0	0	0	0	0	17621	1500	52	5	3	5	ZEB2	2	145147018	Nonstop_Mutation	SNP	T	TCGA-BR-4253-01A-01D-1126-08	11604290	145147018	98052355	15	8685											
ZEB2	9839	broad.mit.edu	37	chr2	145156205	145156205	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgagttttcagatgaggaaGaaacactgttatgatctaaa	9	5	2	5			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr2:145156205G>A	uc002tvu.2	-	8	3029	c.2549C>T	c.(2548-2550)TCT>TTT	p.S850F	ZEB2_uc002tvv.2_Missense_Mutation_p.S844F|ZEB2_uc010zbm.1_Missense_Mutation_p.S821F|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.S879F	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	850						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		AGATGAGGAAGAAACACTGTT	0.343													A	145156205	G	A	145156205	3	1	9	1	0	0	0	0	1	0	0	0	17621	942	33	4	1107	4	ZEB2	2	145156205	Missense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08	9187	145156205	98043168	16	8686											
MYO1B	4430	broad.mit.edu	37	chr2	192227095	192227095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaaattttagaaccgtgCgggtaagatgtagtactttc	10	7	0	2	rs139382265		TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr2:192227095C>T	uc010fsg.2	+	9	1018	c.763C>T	c.(763-765)CGG>TGG	p.R255W	MYO1B_uc002usq.2_Missense_Mutation_p.R255W|MYO1B_uc002usr.2_Missense_Mutation_p.R255W|MYO1B_uc002uss.1_Missense_Mutation_p.R255W	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	255	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TAGAACCGTGCGGGTAAGATG	0.423													T	192227095	C	T	192227095	3	4	9	1	0	0	0	0	1	0	0	0	10069	759	27	1	793	1	MYO1B	2	192227095	Missense_Mutation	SNP	C	TCGA-BR-4253-01A-01D-1126-08	47070890	192227095	50972278	17	8687											
CASP10	843	broad.mit.edu	37	chr2	202073970	202073970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttggagctgtctactcttCggatgaggccctcattccca	9	12	3	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr2:202073970C>T	uc002uxl.1	+	9	1518	c.1100C>T	c.(1099-1101)TCG>TTG	p.S367L	CASP10_uc002uxj.1_Missense_Mutation_p.S367L|CASP10_uc002uxk.1_Missense_Mutation_p.S324L|CASP10_uc010fta.1_Missense_Mutation_p.S300L|CASP10_uc002uxm.1_Missense_Mutation_p.S324L|CASP10_uc010ftb.1_RNA	NM_032974	NP_116756	Q92851	CASPA_HUMAN	caspase 10 isoform b preproprotein	367					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			skin(3)|ovary(1)|pancreas(1)|breast(1)	6						GTCTACTCTTCGGATGAGGCC	0.527													T	202073970	C	T	202073970	3	4	9	1	0	0	0	0	1	0	0	0	2669	893	31	1	1130	1	CASP10	2	202073970	Missense_Mutation	SNP	C	TCGA-BR-4253-01A-01D-1126-08	9846875	202073970	41125403	18	8688											
CHRND	1144	broad.mit.edu	37	chr2	233396285	233396285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatggtgctggtcaccatGgttgtggtgatctgtgtcat	15	7	3	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr2:233396285G>A	uc002vsw.2	+	9	970	c.966G>A	c.(964-966)ATG>ATA	p.M322I	CHRND_uc010zmg.1_Missense_Mutation_p.M307I|CHRND_uc010fyc.2_Missense_Mutation_p.M195I|CHRND_uc010zmh.1_Missense_Mutation_p.M128I	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	322	Helical; (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)|skin(1)	3		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		TGGTCACCATGGTTGTGGTGA	0.557													A	233396285	G	A	233396285	3	1	9	1	0	0	0	0	1	0	0	0	3394	1348	47	4	1000	4	CHRND	2	233396285	Missense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08	31322315	233396285	9803088	19	8689											
NEK10	152110	broad.mit.edu	37	chr3	27326407	27326407	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaactgaaatgctctccaAgcggggctccttctatcagc	9	12	3	2			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr3:27326407A>G	uc003cdt.1	-	22	2109	c.1835T>C	c.(1834-1836)CTT>CCT	p.L612P	NEK10_uc003cds.1_Missense_Mutation_p.L9P	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10 isoform 3	612	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						ATGCTCTCCAAGCGGGGCTCC	0.328													G	27326407	A	G	27326407	3	3	9	1	0	0	0	0	1	0	0	0	10322	72	3	3	319	3	NEK10	3	27326407	Missense_Mutation	SNP	A	TCGA-BR-4253-01A-01D-1126-08		27326407	170696023	20	8690											
C3orf67	200844	broad.mit.edu	37	chr3	58849420	58849420	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagtctttccatgaggtgctGatcgtggtcttgatgaaaaa	12	6	2	4			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr3:58849420G>C	uc003dkt.1	-	12	1491	c.1082C>G	c.(1081-1083)TCA>TGA	p.S361*	C3orf67_uc003dks.1_Nonsense_Mutation_p.S176*|uc003dku.1_Intron|C3orf67_uc003dkv.1_Nonsense_Mutation_p.S176*|C3orf67_uc003dkw.2_Nonsense_Mutation_p.S256*	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	hypothetical protein LOC200844	361											0		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		ATGAGGTGCTGATCGTGGTCT	0.468													C	58849420	G	C	58849420	4	2	9	1	0	0	0	0	0	1	0	0	2241	1294	45	5	629	5	C3orf67	3	58849420	Nonsense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08	31523013	58849420	139173010	21	8691											
FBXO40	51725	broad.mit.edu	37	chr3	121345655	121345655	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacattgtagagcacaaaacTgacccgattcttttgactag	7	9	1	3			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr3:121345655T>G	uc003eeg.2	+	4	2238	c.2028T>G	c.(2026-2028)ACT>ACG	p.T676T		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	676					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)		AGCACAAAACTGACCCGATTC	0.493													G	121345655	T	G	121345655	2	3	9	1	0	0	0	0	0	0	0	1	5749	1567	55	5		5	FBXO40	3	121345655	Silent	SNP	T	TCGA-BR-4253-01A-01D-1126-08	62496235	121345655	76676775	22	8692											
ILDR1	286676	broad.mit.edu	37	chr3	121725886	121725886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcagaaggacttgaagcGccatgtcaccaccacgtcct	9	14	1	2	rs148962924		TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr3:121725886G>A	uc003ees.2	-	2	287	c.181C>T	c.(181-183)CGC>TGC	p.R61C	ILDR1_uc003eeq.2_Missense_Mutation_p.R73C|ILDR1_uc003eer.2_Missense_Mutation_p.R61C|ILDR1_uc010hrg.2_Missense_Mutation_p.R61C	NM_175924	NP_787120	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor	61	Extracellular (Potential).|Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			skin(1)	1				GBM - Glioblastoma multiforme(114;0.156)		GACTTGAAGCGCCATGTCACC	0.547													A	121725886	G	A	121725886	3	1	9	1	0	0	0	0	1	0	0	0	7709	1087	38	1	1351	1	ILDR1	3	121725886	Missense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08	380231	121725886	76296544	23	8693											
PARP15	165631	broad.mit.edu	37	chr3	122354929	122354929	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggcttacccagaatatctCataactttcacggcttaaaa	5	11	2	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr3:122354929C>T	uc003efm.2	+	12	2085	c.2019C>T	c.(2017-2019)CTC>CTT	p.L673L	PARP15_uc003efn.2_Silent_p.L478L|PARP15_uc003efo.1_Silent_p.L420L|PARP15_uc003efp.1_Silent_p.L439L|PARP15_uc011bjt.1_Silent_p.L370L	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	651	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5				GBM - Glioblastoma multiforme(114;0.0531)		CAGAATATCTCATAACTTTCA	0.358													T	122354929	C	T	122354929	2	4	9	1	0	0	0	0	0	0	0	1	11459	813	29	4		4	PARP15	3	122354929	Silent	SNP	C	TCGA-BR-4253-01A-01D-1126-08	629043	122354929	75667501	24	8694											
P2RY12	64805	broad.mit.edu	37	chr3	151056389	151056389	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagtttggcatcactaAgaattttgaatggaaaagtc	8	7	1	2			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr3:151056389A>C	uc003eyw.1	-	2	461	c.245T>G	c.(244-246)CTT>CGT	p.L82R	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_Missense_Mutation_p.L82R|P2RY12_uc003eyx.1_Missense_Mutation_p.L82R	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y12	82	Extracellular (Potential).				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	GGCATCACTAAGAATTTTGAA	0.328													C	151056389	A	C	151056389	3	2	9	1	0	0	0	0	1	0	0	0	11349	72	3	5	787	5	P2RY12	3	151056389	Missense_Mutation	SNP	A	TCGA-BR-4253-01A-01D-1126-08	28701460	151056389	46966041	25	8695											
PIK3CA	5290	broad.mit.edu	37	chr3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtgcaacctacgtgaaTgtaaatattcgagacattga	8	7	0	3	rs121913284		TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr3:178921553T>A	uc003fjk.2	+	5	1192	c.1035T>A	c.(1033-1035)AAT>AAA	p.N345K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	345					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N345K(29)|p.N345I(2)|p.N345S(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCTACGTGAATGTAAATATTC	0.308		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178921553	T	A	178921553	3	1	9	1	0	0	0	0	1	0	0	0	11913	1461	51	5	1049	5	PIK3CA	3	178921553	Missense_Mutation	SNP	T	TCGA-BR-4253-01A-01D-1126-08	27865164	178921553	19100877	26	8696											
ADD1	118	broad.mit.edu	37	chr4	2896375	2896375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgggagtgaatcaggccGgcttcaccttacactctgca	10	12	4	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr4:2896375G>A	uc003gfr.2	+	6	846	c.658G>A	c.(658-660)GGC>AGC	p.G220S	ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Missense_Mutation_p.G220S|ADD1_uc003gfo.2_Missense_Mutation_p.G220S|ADD1_uc003gfp.2_Missense_Mutation_p.G220S|ADD1_uc003gfq.2_Missense_Mutation_p.G220S|ADD1_uc003gfs.2_Missense_Mutation_p.G220S|ADD1_uc003gft.3_Missense_Mutation_p.G220S|ADD1_uc003gfu.2_5'UTR	NM_001119	NP_001110	P35611	ADDA_HUMAN	adducin 1 (alpha) isoform a	220					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAATCAGGCCGGCTTCACCTT	0.473													A	2896375	G	A	2896375	3	1	9	1	0	0	0	0	1	0	0	0	304	1116	39	1	676	1	ADD1	4	2896375	Missense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08		2896375	188257901	27	8697											
GABRA4	2557	broad.mit.edu	37	chr4	46967137	46967137	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataagggccgaaaatacaaaAgcaaagcagacagctatgaa	9	7	0	2			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr4:46967137A>C	uc003gxg.2	-	8	1123	c.984T>G	c.(982-984)GCT>GCG	p.A328A		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	328	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAAATACAAAAGCAAAGCAGA	0.458													C	46967137	A	C	46967137	2	2	9	1	0	0	0	0	0	0	0	1	6163	59	3	5		5	GABRA4	4	46967137	Silent	SNP	A	TCGA-BR-4253-01A-01D-1126-08	44070762	46967137	144187139	28	8698											
ARHGAP24	83478	broad.mit.edu	37	chr4	86863361	86863361	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtctctttcgactgccaggCcaggctaatcttgttaagga	11	10	2	0			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr4:86863361C>A	uc003hpk.2	+	5	983	c.534C>A	c.(532-534)GGC>GGA	p.G178G	ARHGAP24_uc003hpj.2_Silent_p.G178G|ARHGAP24_uc003hpl.2_Silent_p.G83G|ARHGAP24_uc010ikf.2_Silent_p.G93G|ARHGAP24_uc003hpm.2_Silent_p.G85G	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	178	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GACTGCCAGGCCAGGCTAATC	0.498													A	86863361	C	A	86863361	2	1	9	1	0	0	0	0	0	0	0	1	873	726	26	5		5	ARHGAP24	4	86863361	Silent	SNP	C	TCGA-BR-4253-01A-01D-1126-08	39896224	86863361	104290915	29	8699											
FAT4	79633	broad.mit.edu	37	chr4	126372620	126372620	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctctcagttttggctgtTgattcagggaccccctcagc	9	12	4	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr4:126372620T>G	uc003ifj.3	+	9	10449	c.10449T>G	c.(10447-10449)GTT>GTG	p.V3483V	FAT4_uc011cgp.1_Silent_p.V1781V|FAT4_uc003ifi.1_Silent_p.V961V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3483	Cadherin 33.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TTTTGGCTGTTGATTCAGGGA	0.458													G	126372620	T	G	126372620	2	3	9	1	0	0	0	0	0	0	0	1	5692	1799	63	5		5	FAT4	4	126372620	Silent	SNP	T	TCGA-BR-4253-01A-01D-1126-08	39509259	126372620	64781656	30	8700											
PDZD2	23037	broad.mit.edu	37	chr5	32048689	32048689	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagaatataacgagctgAtggtgcggaatggggacccc	14	7	0	3			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr5:32048689A>C	uc003jhl.2	+	8	1952	c.1564A>C	c.(1564-1566)ATG>CTG	p.M522L	PDZD2_uc003jhm.2_Missense_Mutation_p.M522L|PDZD2_uc011cnx.1_Missense_Mutation_p.M348L	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	522					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						TAACGAGCTGATGGTGCGGAA	0.527													C	32048689	A	C	32048689	3	2	9	1	0	0	0	0	1	0	0	0	11701	333	12	5	1590	5	PDZD2	5	32048689	Missense_Mutation	SNP	A	TCGA-BR-4253-01A-01D-1126-08		32048689	148866571	31	8701											
SPEF2	79925	broad.mit.edu	37	chr5	35793298	35793298	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttattaacagtcaactccgAgttcgtggactggcggaagt	11	8	1	0			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr5:35793298A>C	uc003jjo.2	+	32	4703	c.4592A>C	c.(4591-4593)GAG>GCG	p.E1531A	SPEF2_uc003jjp.1_Missense_Mutation_p.E1017A|SPEF2_uc003jjr.2_Missense_Mutation_p.E586A	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1531					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTCAACTCCGAGTTCGTGGAC	0.433													C	35793298	A	C	35793298	3	2	9	1	0	0	0	0	1	0	0	0	15034	304	11	5	4739	5	SPEF2	5	35793298	Missense_Mutation	SNP	A	TCGA-BR-4253-01A-01D-1126-08	3744609	35793298	145121962	32	8702											
ELL2	22936	broad.mit.edu	37	chr5	95278735	95278735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttggaactggattgaagGtcgaaaaggaattaaattct	10	5	1	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr5:95278735G>A	uc003klr.3	-	2	516	c.166C>T	c.(166-168)CCT>TCT	p.P56S		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	56					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				central_nervous_system(1)	1		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TGGATTGAAGGTCGAAAAGGA	0.318													A	95278735	G	A	95278735	3	1	9	1	0	0	0	0	1	0	0	0	5063	1261	44	4	1800	4	ELL2	5	95278735	Missense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08	59485437	95278735	85636525	33	8703											
LOX	4015	broad.mit.edu	37	chr5	121405747	121405747	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctaagcaaataacacttaCggtgaaattgtgcagcctga	9	8	0	2			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr5:121405747C>T	uc003ksu.2	-	6	1622	c.1247_splice	c.e6+1	p.P416_splice	LOX_uc010jcp.2_Splice_Site_p.P119_splice|LOX_uc010jcq.2_Splice_Site_p.P119_splice|LOX_uc011cwk.1_Splice_Site_p.P186_splice|LOX_uc010jcr.2_Splice_Site_p.P119_splice	NM_002317	NP_002308	P28300	LYOX_HUMAN	lysyl oxidase preproprotein						protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			lung(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		ATAACACTTACGGTGAAATTG	0.403													T	121405747	C	T	121405747	5	4	9	1	0	0	0	0	0	0	1	0	8898	550	19	1	13	1	LOX	5	121405747	Splice_Site	SNP	C	TCGA-BR-4253-01A-01D-1126-08	26127012	121405747	59509513	34	8704											
SNCAIP	9627	broad.mit.edu	37	chr5	121785553	121785553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccagacaaacagtagaaCgtgtcacgctgcagaaccaa	8	13	1	3	rs143440334		TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr5:121785553C>T	uc003ksw.1	+	9	1812	c.1606C>T	c.(1606-1608)CGT>TGT	p.R536C	SNCAIP_uc011cwl.1_Missense_Mutation_p.R94C|SNCAIP_uc003ksx.1_Missense_Mutation_p.R583C|SNCAIP_uc003ksy.1_Missense_Mutation_p.R170C|SNCAIP_uc003ksz.1_Missense_Mutation_p.R170C|SNCAIP_uc010jcu.2_Missense_Mutation_p.R132C|SNCAIP_uc011cwm.1_Missense_Mutation_p.R170C|SNCAIP_uc003kta.1_Missense_Mutation_p.R168C|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.R230C|SNCAIP_uc010jcx.1_Missense_Mutation_p.R476C|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.R52C	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	536	Potential.				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AACAGTAGAACGTGTCACGCT	0.413													T	121785553	C	T	121785553	3	4	9	1	0	0	0	0	1	0	0	0	14841	536	19	1	1636	1	SNCAIP	5	121785553	Missense_Mutation	SNP	C	TCGA-BR-4253-01A-01D-1126-08	379806	121785553	59129707	35	8705											
FBN2	2201	broad.mit.edu	37	chr5	127727788	127727788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagacagttggtatacagCgtccatttaaacaaaggtta	9	6	0	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr5:127727788C>T	uc003kuu.2	-	11	1965	c.1526G>A	c.(1525-1527)CGC>CAC	p.R509H	FBN2_uc003kuv.2_Missense_Mutation_p.R476H	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	509	EGF-like 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGGTATACAGCGTCCATTTAA	0.338													T	127727788	C	T	127727788	3	4	9	1	0	0	0	0	1	0	0	0	5703	768	27	1	7432	1	FBN2	5	127727788	Missense_Mutation	SNP	C	TCGA-BR-4253-01A-01D-1126-08	5942235	127727788	53187472	36	8706											
PCDHGA11	56105	broad.mit.edu	37	chr5	140801462	140801462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatggaggcgatcccatccGaaagggcgcagttcccattc	12	12	0	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr5:140801462G>A	uc003lkq.1	+	1	926	c.668G>A	c.(667-669)CGA>CAA	p.R223Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.R223Q|PCDHGA11_uc003lkp.1_Missense_Mutation_p.R223Q	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	223	Extracellular (Potential).|Cadherin 2.				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)			GATCCCATCCGAAAGGGCGCA	0.522													A	140801462	G	A	140801462	3	1	9	1	0	0	0	0	1	0	0	0	11552	1058	37	1	670	1	PCDHGA11	5	140801462	Missense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08	13073674	140801462	40113798	37	8707											
PPP2R2B	5521	broad.mit.edu	37	chr5	146080690	146080690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgtggttgaattctaccGtagagataatgtcagctgca	11	8	2	2			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr5:146080690G>A	uc003loe.2	-	2	611	c.86C>T	c.(85-87)ACG>ATG	p.T29M	PPP2R2B_uc010jgm.2_Missense_Mutation_p.T18M|PPP2R2B_uc003log.3_Missense_Mutation_p.T29M|PPP2R2B_uc003lof.3_Missense_Mutation_p.T29M|PPP2R2B_uc003loi.3_Missense_Mutation_p.T32M|PPP2R2B_uc003loh.3_Missense_Mutation_p.T29M|PPP2R2B_uc003loj.3_Missense_Mutation_p.T9M|PPP2R2B_uc003lok.3_Missense_Mutation_p.T18M|PPP2R2B_uc011dbu.1_Missense_Mutation_p.T35M|PPP2R2B_uc011dbv.1_Missense_Mutation_p.T87M	NM_004576	NP_004567	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	29	WD 1.				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)|prostate(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATTCTACCGTAGAGATAAT	0.418													A	146080690	G	A	146080690	3	1	9	1	0	0	0	0	1	0	0	0	12385	1145	40	1	1277	1	PPP2R2B	5	146080690	Missense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08	5279228	146080690	34834570	38	8708											
KIF6	221458	broad.mit.edu	37	chr6	39507802	39507802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttcttgtggagcaaactgGatcttttccccaaaatgctg	8	9	2	0			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr6:39507802G>A	uc003oot.2	-	13	1717	c.1622C>T	c.(1621-1623)TCC>TTC	p.S541F	KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Missense_Mutation_p.S332F|KIF6_uc011dua.1_Missense_Mutation_p.S541F|KIF6_uc010jxb.1_Intron	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	541					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						GAGCAAACTGGATCTTTTCCC	0.443													A	39507802	G	A	39507802	3	1	9	1	0	0	0	0	1	0	0	0	8308	1174	41	4	866	4	KIF6	6	39507802	Missense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08		39507802	131607265	39	8709											
OPN5	221391	broad.mit.edu	37	chr6	47759622	47759622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccgctggtatggatgggCtggatttttctttggctgtg	15	7	1	0			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr6:47759622C>T	uc003ozc.2	+	3	340	c.335C>T	c.(334-336)GCT>GTT	p.A112V	OPN5_uc003ozd.2_5'UTR	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	opsin 5 isoform 1	112	Helical; Name=3; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			ovary(1)	1						TATGGATGGGCTGGATTTTTC	0.483													T	47759622	C	T	47759622	3	4	9	1	0	0	0	0	1	0	0	0	10883	797	28	2	345	2	OPN5	6	47759622	Missense_Mutation	SNP	C	TCGA-BR-4253-01A-01D-1126-08	8251820	47759622	123355445	40	8710											
SEC63	11231	broad.mit.edu	37	chr6	108204347	108204347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcttcctttactgcagCttcctaaaagggaaaggcaa	7	10	2	0			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr6:108204347C>T	uc003psc.3	-	17	1947	c.1678G>A	c.(1678-1680)GCT>ACT	p.A560T	SEC63_uc003psb.3_Missense_Mutation_p.A420T	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	SEC63-like protein	560	Cytoplasmic (Potential).				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			ovary(1)|skin(1)	2		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTACTGCAGCTTCCTAAAAG	0.358													T	108204347	C	T	108204347	3	4	9	1	0	0	0	0	1	0	0	0	14005	797	28	2	624	2	SEC63	6	108204347	Missense_Mutation	SNP	C	TCGA-BR-4253-01A-01D-1126-08	60444725	108204347	62910720	41	8711											
MAGI2	9863	broad.mit.edu	37	chr7	77764359	77764359	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgaggaatgatgcgaaGggtgacactaagacctgcat	12	9	0	4			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr7:77764359G>T	uc003ugx.2	-	17	3264	c.3010C>A	c.(3010-3012)CTT>ATT	p.L1004I	MAGI2_uc003ugy.2_Missense_Mutation_p.L990I|MAGI2_uc010ldx.1_Missense_Mutation_p.L597I	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	1004	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATGATGCGAAGGGTGACACTA	0.572													T	77764359	G	T	77764359	3	4	9	1	0	0	0	0	1	0	0	0	9191	1000	35	5	1381	5	MAGI2	7	77764359	Missense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08		77764359	81374304	42	8712											
C7orf64	84060	broad.mit.edu	37	chr7	92164116	92164116	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacaacacaactgcaggaGcgcaaaagaagaagagaaga	12	7	0	4			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr7:92164116G>A	uc003ulz.2	+	4	890	c.849G>A	c.(847-849)GAG>GAA	p.E283E	C7orf64_uc003uma.2_Silent_p.E283E	NM_032120	NP_115496	Q5RL73	CG064_HUMAN	hypothetical protein LOC84060	283							nucleotide binding			ovary(2)	2						AACTGCAGGAGCGCAAAAGAA	0.428													A	92164116	G	A	92164116	2	1	9	1	0	0	0	0	0	0	0	1	2410	962	34	2		2	C7orf64	7	92164116	Silent	SNP	G	TCGA-BR-4253-01A-01D-1126-08	14399757	92164116	66974547	43	8713											
MUC17	140453	broad.mit.edu	37	chr7	100679310	100679310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacagcctttcaacaactcCtgctgtcaccagcacacctg	5	17	2	0			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr7:100679310C>T	uc003uxp.1	+	3	4666	c.4613C>T	c.(4612-4614)CCT>CTT	p.P1538L	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1538	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|23.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAACAACTCCTGCTGTCACC	0.473													T	100679310	C	T	100679310	3	4	9	1	0	0	0	0	1	0	0	0	9974	681	24	4	4623	4	MUC17	7	100679310	Missense_Mutation	SNP	C	TCGA-BR-4253-01A-01D-1126-08	8515194	100679310	58459353	44	8714											
RELN	5649	broad.mit.edu	37	chr7	103338452	103338452	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcacctacacgaagattttCctgcttccactgaaattgga	6	11	1	2			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr7:103338452C>A	uc003vca.2	-	10	1151	c.991G>T	c.(991-993)GAA>TAA	p.E331*	RELN_uc010liz.2_Nonsense_Mutation_p.E331*	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	331					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.E331K(1)		ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGAAGATTTTCCTGCTTCCAC	0.448													A	103338452	C	A	103338452	4	1	9	1	0	0	0	0	0	1	0	0	13220	864	30	5	9615	5	RELN	7	103338452	Nonsense_Mutation	SNP	C	TCGA-BR-4253-01A-01D-1126-08	2659142	103338452	55800211	45	8715											
ACCN3	9311	broad.mit.edu	37	chr7	150746116	150746116	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggggatgtgggcagcggcCgtggtcctgtcagtggccac	19	11	1	0			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr7:150746116C>T	uc003win.2	+	1	512	c.144C>T	c.(142-144)GCC>GCT	p.A48A	ACCN3_uc003wio.2_Silent_p.A48A|ACCN3_uc003wip.2_Silent_p.A48A|ACCN3_uc003wiq.2_RNA	NM_004769	NP_004760	Q9UHC3	ACCN3_HUMAN	amiloride-sensitive cation channel 3 isoform a	48	Helical; (Potential).				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGCAGCGGCCGTGGTCCTGT	0.667													T	150746116	C	T	150746116	2	4	9	1	0	0	0	0	0	0	0	1	130	639	23	1		1	ACCN3	7	150746116	Silent	SNP	C	TCGA-BR-4253-01A-01D-1126-08	47407664	150746116	8392547	46	8716											
PRKAG2	51422	broad.mit.edu	37	chr7	151261254	151261254	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatactgtgaacggtgctgAagggcctgggtcaccgtgat	14	8	1	3			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr7:151261254A>C	uc003wkk.2	-	14	2105	c.1494T>G	c.(1492-1494)CTT>CTG	p.L498L	PRKAG2_uc003wki.2_Silent_p.L257L|PRKAG2_uc011kvl.1_Silent_p.L373L|PRKAG2_uc003wkj.2_Silent_p.L454L|PRKAG2_uc003wkl.2_Silent_p.L46L	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	AMP-activated protein kinase gamma2 subunit	498					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(1)|kidney(1)	2	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		AACGGTGCTGAAGGGCCTGGG	0.418													C	151261254	A	C	151261254	2	2	9	1	0	0	0	0	0	0	0	1	12501	233	9	5		5	PRKAG2	7	151261254	Silent	SNP	A	TCGA-BR-4253-01A-01D-1126-08	515138	151261254	7877409	47	8717											
C8orf79	57604	broad.mit.edu	37	chr8	12878836	12878836	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacggtcccacagcgtgggCtatgaacctgctatggcaag	12	11	0	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr8:12878836C>A	uc010lsq.2	+	5	1140	c.648C>A	c.(646-648)GGC>GGA	p.G216G	C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Silent_p.G129G|C8orf79_uc010lsr.2_Silent_p.G90G	NM_020844	NP_065895	Q9P272	K1456_HUMAN	hypothetical protein LOC57604 isoform 1	216							methyltransferase activity				0						ACAGCGTGGGCTATGAACCTG	0.448													A	12878836	C	A	12878836	2	1	9	1	0	0	0	0	0	0	0	1	2438	784	28	5		5	C8orf79	8	12878836	Silent	SNP	C	TCGA-BR-4253-01A-01D-1126-08		12878836	133485186	48	8718											
CHRNA2	1135	broad.mit.edu	37	chr8	27320907	27320907	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggagcggtggtgcacAttgagcacgaagacggtgat	18	7	0	3			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr8:27320907A>G	uc010lur.2	-	6	1662	c.1053T>C	c.(1051-1053)AAT>AAC	p.N351N	CHRNA2_uc011lal.1_Silent_p.N336N|CHRNA2_uc010lus.2_Silent_p.N153N	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	351	Helical; (Potential).					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GGTGGTGCACATTGAGCACGA	0.647													G	27320907	A	G	27320907	2	3	9	1	0	0	0	0	0	0	0	1	3383	214	8	3		3	CHRNA2	8	27320907	Silent	SNP	A	TCGA-BR-4253-01A-01D-1126-08	14442071	27320907	119043115	49	8719											
KCNU1	157855	broad.mit.edu	37	chr8	36780063	36780063	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggtggactggaagggtccctCcaagaaacaaatctgcatct	11	10	2	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr8:36780063C>G	uc010lvw.2	+	24	2739	c.2652C>G	c.(2650-2652)CTC>CTG	p.L884L	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	884	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AAGGGTCCCTCCAAGAAACAA	0.463													G	36780063	C	G	36780063	2	3	9	1	0	0	0	0	0	0	0	1	8093	842	30	5		5	KCNU1	8	36780063	Silent	SNP	C	TCGA-BR-4253-01A-01D-1126-08	9459156	36780063	109583959	50	8720											
CHD7	55636	broad.mit.edu	37	chr8	61655087	61655087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggactaatgcaccagcagCccatccaccccagtggctca	8	16	1	0			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr8:61655087C>T	uc003xue.2	+	2	1573	c.1096C>T	c.(1096-1098)CCC>TCC	p.P366S		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	366					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GCACCAGCAGCCCATCCACCC	0.483													T	61655087	C	T	61655087	3	4	9	1	0	0	0	0	1	0	0	0	3330	739	26	2	1098	2	CHD7	8	61655087	Missense_Mutation	SNP	C	TCGA-BR-4253-01A-01D-1126-08	24875024	61655087	84708935	51	8721											
EYA1	2138	broad.mit.edu	37	chr8	72123487	72123487	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attctctcaaaacagctttcTtttcctagtgaacaaaaata	3	9	3	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr8:72123487T>G	uc003xys.3	-	16	1889	c.1602A>C	c.(1600-1602)AAA>AAC	p.K534N	EYA1_uc003xyr.3_Missense_Mutation_p.K499N|EYA1_uc003xyt.3_Missense_Mutation_p.K501N|EYA1_uc010lzf.2_Missense_Mutation_p.K461N|EYA1_uc003xyu.2_Missense_Mutation_p.K534N|EYA1_uc011lfe.1_Missense_Mutation_p.K528N|EYA1_uc003xyv.2_Missense_Mutation_p.K412N	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	534					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AACAGCTTTCTTTTCCTAGTG	0.328													G	72123487	T	G	72123487	3	3	9	1	0	0	0	0	1	0	0	0	5328	1606	56	5	184	5	EYA1	8	72123487	Missense_Mutation	SNP	T	TCGA-BR-4253-01A-01D-1126-08	10468400	72123487	74240535	52	8722											
PITRM1	10531	broad.mit.edu	37	chr10	3197782	3197782	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcggaaggaagcctctgaCctttctcgtagatctgctgc	11	12	3	2			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr10:3197782C>T	uc010qah.1	-	13	1557	c.1525_splice	c.e13+1	p.G509_splice	PITRM1_uc001igr.1_Splice_Site_p.G541_splice|PITRM1_uc001igt.1_Splice_Site_p.G541_splice|PITRM1_uc009xhv.1_Splice_Site_p.G106_splice|PITRM1_uc001igu.1_Splice_Site_p.G533_splice|PITRM1_uc010qai.1_Splice_Site_p.G512_splice|PITRM1_uc001igw.1_Splice_Site_p.G541_splice			E7ES23	E7ES23_HUMAN	SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;						proteolysis		metalloendopeptidase activity|zinc ion binding			pancreas(1)	1						AAGCCTCTGACCTTTCTCGTA	0.542													T	3197782	C	T	3197782	5	4	9	1	0	0	0	0	0	0	1	0	11953	521	18	4	1547	4	PITRM1	10	3197782	Splice_Site	SNP	C	TCGA-BR-4253-01A-01D-1126-08		3197782	132336965	53	8723											
BMS1	9790	broad.mit.edu	37	chr10	43292386	43292386	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgtgtgaatctggagaAgtctttgctgatgaagaaag	13	5	2	6			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr10:43292386A>C	uc001jaj.2	+	10	2052	c.1694A>C	c.(1693-1695)AAG>ACG	p.K565T		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	565					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						AATCTGGAGAAGTCTTTGCTG	0.493													C	43292386	A	C	43292386	3	2	9	1	0	0	0	0	1	0	0	0	1472	72	3	5	1728	5	BMS1	10	43292386	Missense_Mutation	SNP	A	TCGA-BR-4253-01A-01D-1126-08	40094604	43292386	92242361	54	8724											
BMS1	9790	broad.mit.edu	37	chr10	43292525	43292525	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaagactcagaaaatgaagaGgctattagaaaaaagctttc	9	5	1	5			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr10:43292525G>C	uc001jaj.2	+	10	2191	c.1833G>C	c.(1831-1833)GAG>GAC	p.E611D		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	611					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						AAAATGAAGAGGCTATTAGAA	0.423													C	43292525	G	C	43292525	3	2	9	1	0	0	0	0	1	0	0	0	1472	991	35	5	1867	5	BMS1	10	43292525	Missense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08	139	43292525	92242222	55	8725											
ZWINT	11130	broad.mit.edu	37	chr10	58118565	58118565	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccatgctcccgaacttaCctctgcagcttgtcccgctc	7	18	1	0			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr10:58118565C>T	uc001jjx.1	-	6	660	c.623_splice	c.e6+1	p.R208_splice	ZWINT_uc001jjy.1_Intron|ZWINT_uc001jka.1_Splice_Site_p.R208_splice|ZWINT_uc009xoy.1_Splice_Site	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a						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						CCCGAACTTACCTCTGCAGCT	0.522													T	58118565	C	T	58118565	5	4	9	1	0	0	0	0	0	0	1	0	18246	521	18	4	221	4	ZWINT	10	58118565	Splice_Site	SNP	C	TCGA-BR-4253-01A-01D-1126-08	14826040	58118565	77416182	56	8726											
PTEN	5728	broad.mit.edu	37	chr10	89720799	89720802	+	Frame_Shift_Del	DEL	TACT	TACT	-													taatgacaaggaatatctagTacttactttaacaaaaaatg							TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr10:89720799_89720802delTACT	uc001kfb.2	+	9	1981_1984	c.950_953delTACT	c.(949-954)GTACTTfs	p.V317fs		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	317_318	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L318fs*2(17)|p.V317fs*3(16)|p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.V317fs*6(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.L318F(1)|p.T318fs*2(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAATATCTAGTACTTACTTTAACA	0.333	V317fs*3(SKUT1_SOFT_TISSUE)|V317fs*3(EVSAT_BREAST)|V317fs*3(IGROV1_OVARY)|V317fs*3(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)	31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89720802	TACT	-	89720799	7	5	9	1	0	1	0	1	0	0	0	0	12738	1638	57	0	980	0	PTEN	10	89720799	Frame_Shift_Del	DEL	TACT	TCGA-BR-4253-01A-01D-1126-08	31602234	89720799	45813948	57	8727											
SORCS1	114815	broad.mit.edu	37	chr10	108459010	108459010	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgttgccctcagggcctcTgctgctctggacattctcca	10	14	4	0			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr10:108459010T>C	uc001kym.2	-	9	1383	c.1375A>G	c.(1375-1377)AGA>GGA	p.R459G	SORCS1_uc001kyl.2_Missense_Mutation_p.R459G|SORCS1_uc009xxs.2_Missense_Mutation_p.R459G|SORCS1_uc001kyn.1_Missense_Mutation_p.R459G|SORCS1_uc001kyo.2_Missense_Mutation_p.R459G	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	459	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCAGGGCCTCTGCTGCTCTGG	0.542													C	108459010	T	C	108459010	3	2	9	1	0	0	0	0	1	0	0	0	14930	1588	55	3	2437	3	SORCS1	10	108459010	Missense_Mutation	SNP	T	TCGA-BR-4253-01A-01D-1126-08	18738211	108459010	27075737	58	8728											
TDRD1	56165	broad.mit.edu	37	chr10	115959035	115959035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcttcacctccttaggacCtcctcttcggtccacaactt	5	17	3	0			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr10:115959035C>T	uc001lbg.1	+	4	641	c.488C>T	c.(487-489)CCT>CTT	p.P163L	TDRD1_uc001lbf.2_Missense_Mutation_p.P154L|TDRD1_uc001lbh.1_Missense_Mutation_p.P154L|TDRD1_uc001lbi.1_Missense_Mutation_p.P154L	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	163					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TCCTTAGGACCTCCTCTTCGG	0.408													T	115959035	C	T	115959035	3	4	9	1	0	0	0	0	1	0	0	0	15727	681	24	4	498	4	TDRD1	10	115959035	Missense_Mutation	SNP	C	TCGA-BR-4253-01A-01D-1126-08	7500025	115959035	19575712	59	8729											
OR52E6	390078	broad.mit.edu	37	chr11	5862742	5862742	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtaccaaagaggtttgCaaatggcaatgtagcggtca	13	6	1	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr11:5862742C>A	uc010qzq.1	-	1	386	c.386G>T	c.(385-387)TGC>TTC	p.C129F	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGAGGTTTGCAAATGGCAAT	0.478													A	5862742	C	A	5862742	3	1	9	1	0	0	0	0	1	0	0	0	11117	710	25	5	557	5	OR52E6	11	5862742	Missense_Mutation	SNP	C	TCGA-BR-4253-01A-01D-1126-08		5862742	129143774	60	8730											
OR9G9	504191	broad.mit.edu	37	chr11	56468143	56468143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacaaaagcatctcctttGctggctgcctgtgtcagttc	9	11	2	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr11:56468143G>A	uc010rjn.1	+	1	280	c.280G>A	c.(280-282)GCT>ACT	p.A94T		NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN	olfactory receptor, family 9, subfamily G,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CATCTCCTTTGCTGGCTGCCT	0.507													A	56468143	G	A	56468143	3	1	9	1	0	0	0	0	1	0	0	0	11252	1319	46	2	282	2	OR9G9	11	56468143	Missense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08	50605401	56468143	78538373	61	8731											
PGA3	643834	broad.mit.edu	37	chr11	60971081	60971081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtggcactctctgagtgCatcatgtacaagtgagtccg	12	10	2	2			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr11:60971081C>T	uc001nqx.2	+	1	98	c.45C>T	c.(43-45)TGC>TGT	p.C15C	PGA3_uc010rld.1_Silent_p.C15C	NM_001079807	NP_001073275			pepsinogen 3, group I precursor											ovary(1)|skin(1)	2						TCTCTGAGTGCATCATGTACA	0.567													T	60971081	C	T	60971081	2	4	9	1	0	0	0	0	0	0	0	1	11771	718	25	2		2	PGA3	11	60971081	Silent	SNP	C	TCGA-BR-4253-01A-01D-1126-08	4502938	60971081	74035435	62	8732											
MARK2	2011	broad.mit.edu	37	chr11	63672270	63672270	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccacagcacagccccccaGcgtgtccctgttgcctcccc	7	22	0	0			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr11:63672270G>A	uc001nxw.2	+	16	2268	c.1689G>A	c.(1687-1689)CAG>CAA	p.Q563Q	MARK2_uc001nxx.2_Silent_p.Q509Q|MARK2_uc001nxy.2_Silent_p.Q508Q|MARK2_uc001nxv.3_Silent_p.Q508Q|MARK2_uc001nxz.3_Silent_p.Q529Q|MARK2_uc009yoy.2_Silent_p.Q483Q	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	563					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						CAGCCCCCCAGCGTGTCCCTG	0.632													A	63672270	G	A	63672270	2	1	9	1	0	0	0	0	0	0	0	1	9313	962	34	2		2	MARK2	11	63672270	Silent	SNP	G	TCGA-BR-4253-01A-01D-1126-08	2701189	63672270	71334246	63	8733											
GRM5	2915	broad.mit.edu	37	chr11	88780590	88780590	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatggctacagaactggAgccaggcccaatgaccccta	10	13	0	3			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr11:88780590A>G	uc001pcq.2	-	1	651	c.451T>C	c.(451-453)TCC>CCC	p.S151P	GRM5_uc009yvm.2_Missense_Mutation_p.S151P|GRM5_uc009yvn.1_Missense_Mutation_p.S151P	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	151	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ACAGAACTGGAGCCAGGCCCA	0.502													G	88780590	A	G	88780590	3	3	9	1	0	0	0	0	1	0	0	0	6800	304	11	3	3223	3	GRM5	11	88780590	Missense_Mutation	SNP	A	TCGA-BR-4253-01A-01D-1126-08	25108320	88780590	46225926	64	8734											
NCAM1	4684	broad.mit.edu	37	chr11	113076865	113076865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagaatcctggcacggggGgagatcaacttcaaggacat	14	9	2	2			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr11:113076865G>A	uc009yyq.1	+	5	931	c.237G>A	c.(235-237)GGG>GGA	p.G79G	NCAM1_uc001pno.2_Silent_p.G79G	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	197	Ig-like C2-type 2.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGGCACGGGGGGAGATCAACT	0.493													A	113076865	G	A	113076865	2	1	9	1	0	0	0	0	0	0	0	1	10202	1219	43	4		4	NCAM1	11	113076865	Silent	SNP	G	TCGA-BR-4253-01A-01D-1126-08	24296275	113076865	21929651	65	8735											
EPS8	2059	broad.mit.edu	37	chr12	15811466	15811466	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttaaacttttggaaacAgtcaagaaattcatcaggag	9	5	3	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr12:15811466A>C	uc009zif.2	-	11	1085	c.991T>G	c.(991-993)TGT>GGT	p.C331G	EPS8_uc001rdb.2_Missense_Mutation_p.C331G|EPS8_uc009zig.2_Missense_Mutation_p.C71G|EPS8_uc010shv.1_Missense_Mutation_p.C71G	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	331					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TTTTGGAAACAGTCAAGAAAT	0.368													C	15811466	A	C	15811466	3	2	9	1	0	0	0	0	1	0	0	0	5194	188	7	5	1521	5	EPS8	12	15811466	Missense_Mutation	SNP	A	TCGA-BR-4253-01A-01D-1126-08		15811466	118040429	66	8736											
OR10P1	121130	broad.mit.edu	37	chr12	56031172	56031172	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccatgcctccctcatcttctCtctaccttttcgcagccacc	3	20	4	0			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr12:56031172C>T	uc010spq.1	+	1	497	c.497C>T	c.(496-498)TCT>TTT	p.S166F		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P,	166	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2						CTCATCTTCTCTCTACCTTTT	0.592													T	56031172	C	T	56031172	3	4	9	1	0	0	0	0	1	0	0	0	10915	913	32	4	499	4	OR10P1	12	56031172	Missense_Mutation	SNP	C	TCGA-BR-4253-01A-01D-1126-08	40219706	56031172	77820723	67	8737											
RILPL1	353116	broad.mit.edu	37	chr12	124017726	124017726	+	Frame_Shift_Del	DEL	G	G	-													gaggccgccgcccaccttctGgtgcttgcgctccttctcga							TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr12:124017726delG	uc001ufe.2	-	1	540	c.304delC	c.(304-306)CAGfs	p.Q102fs	RILPL1_uc010tas.1_Frame_Shift_Del_p.Q102fs	NM_178314	NP_847884	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	102	Potential.				neuroprotection	cytosol					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CCCACCTTCTGGTGCTTGCGC	0.711													-	124017726	G	-	124017726	7	5	9	1	0	1	0	1	0	0	0	0	13361	1357	47	0	935	0	RILPL1	12	124017726	Frame_Shift_Del	DEL	G	TCGA-BR-4253-01A-01D-1126-08	67986554	124017726	9834169	68	8738											
DIAPH3	81624	broad.mit.edu	37	chr13	60545059	60545059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttcaacccaaatggcaggAttggtagaggaggagaattt	13	5	1	2			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr13:60545059A>G	uc001vht.2	-	16	2105	c.1886T>C	c.(1885-1887)ATC>ACC	p.I629T	DIAPH3_uc001vhu.2_Missense_Mutation_p.I366T|DIAPH3_uc001vhv.2_Missense_Mutation_p.I207T	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	629	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATGGCAGGATTGGTAGAGG	0.438													G	60545059	A	G	60545059	3	3	9	1	0	0	0	0	1	0	0	0	4520	333	12	3	1767	3	DIAPH3	13	60545059	Missense_Mutation	SNP	A	TCGA-BR-4253-01A-01D-1126-08		60545059	54624819	69	8739											
EDNRB	1910	broad.mit.edu	37	chr13	78475267	78475267	+	Frame_Shift_Del	DEL	A	A	-													ttcacaggtcattagtgtatAaaaaaatgcagtgatggcca							TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr13:78475266_78475266TA>T	uc001vkp.1	-	4	1301	c.1148_1148TA>A	c.(1147-1149)tatfs	p.Y383fs	EDNRB_uc001vkq.1_Frame_Shift_Del_p.Y293fs|BC031243_uc001vkn.1_Intron|EDNRB_uc001vko.2_Frame_Shift_Del_p.Y293fs|EDNRB_uc010aez.1_Frame_Shift_Del_p.Y293fs	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	293			P -> L (in HSCR2; familial).		activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	p.N382I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CATTAGTGTATAAAAAAATGC	0.338													-	78475267	A	-	78475267	7	5	9	1	0	1	0	1	0	0	0	0	4920	362	13	0	588	0	EDNRB	13	78475267	Frame_Shift_Del	DEL	A	TCGA-BR-4253-01A-01D-1126-08	17930208	78475267	36694611	70	8740											
COL4A2	1284	broad.mit.edu	37	chr13	111111150	111111150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatgcagatgtacagaaggcGacgaagctatcaaaggtctt	11	7	2	2			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr13:111111150G>A	uc001vqx.2	+	22	1754	c.1465G>A	c.(1465-1467)GAC>AAC	p.D489N		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	489	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TACAGAAGGCGACGAAGCTAT	0.627													A	111111150	G	A	111111150	3	1	9	1	0	0	0	0	1	0	0	0	3690	1058	37	1	1547	1	COL4A2	13	111111150	Missense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08	32635883	111111150	4058728	71	8741											
AHNAK2	113146	broad.mit.edu	37	chr14	105405849	105405849	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acctgggtttctggaagcctCatgccaggcatctgaaaagg	12	10	3	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr14:105405849C>T	uc010axc.1	-	7	16059	c.15939G>A	c.(15937-15939)ATG>ATA	p.M5313I	AHNAK2_uc001ypx.2_Missense_Mutation_p.M5213I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5313						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)			CTGGAAGCCTCATGCCAGGCA	0.507													T	105405849	C	T	105405849	3	4	9	1	0	0	0	0	1	0	0	0	415	826	29	4	1452	4	AHNAK2	14	105405849	Missense_Mutation	SNP	C	TCGA-BR-4253-01A-01D-1126-08		105405849	1943691	72	8742											
ITGA11	22801	broad.mit.edu	37	chr15	68661546	68661546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgagtttggtgcagttccCgtggatcactggacacttgt	13	8	1	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr15:68661546C>T	uc002ari.2	-	3	328	c.241G>A	c.(241-243)GGG>AGG	p.G81R	ITGA11_uc010bib.2_Missense_Mutation_p.G81R	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	81	FG-GAP 1.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	GTGCAGTTCCCGTGGATCACT	0.473													T	68661546	C	T	68661546	3	4	9	1	0	0	0	0	1	0	0	0	7874	652	23	1	3437	1	ITGA11	15	68661546	Missense_Mutation	SNP	C	TCGA-BR-4253-01A-01D-1126-08		68661546	33869846	73	8743											
C15orf32	145858	broad.mit.edu	37	chr15	93015418	93015418	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatgcttcaaaggaagacTtgcacccggctgacccccag	11	13	1	2			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr15:93015418T>C	uc002brc.1	+	1	512	c.40T>C	c.(40-42)TTG>CTG	p.L14L	C15orf32_uc010bod.1_RNA	NM_153040	NP_694585	Q32M92	CO032_HUMAN	hypothetical protein LOC145858	14										ovary(1)	1	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			AAAGGAAGACTTGCACCCGGC	0.368													C	93015418	T	C	93015418	2	2	9	1	0	0	0	0	0	0	0	1	1790	1606	56	3		3	C15orf32	15	93015418	Silent	SNP	T	TCGA-BR-4253-01A-01D-1126-08	24353872	93015418	9515974	74	8744											
SETD1A	9739	broad.mit.edu	37	chr16	30976237	30976237	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgggccacacgggaggaaCcccctggagccccttttgct	13	16	0	0			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr16:30976237C>A	uc002ead.1	+	7	1860	c.1174C>A	c.(1174-1176)CCC>ACC	p.P392T		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	392	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						ACGGGAGGAACCCCCTGGAGC	0.587													A	30976237	C	A	30976237	3	1	9	1	0	0	0	0	1	0	0	0	14130	507	18	5	1196	5	SETD1A	16	30976237	Missense_Mutation	SNP	C	TCGA-BR-4253-01A-01D-1126-08		30976237	59378516	75	8745											
ABCA8	10351	broad.mit.edu	37	chr17	66871845	66871845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaggagggcacccctttccGtgtttctaaaggtggcccgg	13	11	1	0			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr17:66871845G>A	uc002jhp.2	-	34	4459	c.4280C>T	c.(4279-4281)ACG>ATG	p.T1427M	ABCA8_uc002jhq.2_Missense_Mutation_p.T1467M|ABCA8_uc010wqq.1_Missense_Mutation_p.T1462M	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	1427	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					ACCCCTTTCCGTGTTTCTAAA	0.483													A	66871845	G	A	66871845	3	1	9	1	0	0	0	0	1	0	0	0	38	1145	40	1	485	1	ABCA8	17	66871845	Missense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08		66871845	14323365	76	8746											
SYT4	6860	broad.mit.edu	37	chr18	40850508	40850508	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcacaaggaatatcaaagAcaaacagctcattgaacact	5	11	3	2			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr18:40850508A>G	uc002law.2	-	4	1445	c.1076T>C	c.(1075-1077)GTC>GCC	p.V359A	SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Missense_Mutation_p.V341A|SYT4_uc010dnh.2_RNA	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	359	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(5)	5						AATATCAAAGACAAACAGCTC	0.418													G	40850508	A	G	40850508	3	3	9	1	0	0	0	0	1	0	0	0	15473	275	10	3	205	3	SYT4	18	40850508	Missense_Mutation	SNP	A	TCGA-BR-4253-01A-01D-1126-08		40850508	37226740	77	8747											
MUC16	94025	broad.mit.edu	37	chr19	9007843	9007843	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagagctccgatgggtgaaAcctgcatagggaaggaggca	15	9	0	2			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr19:9007843A>C	uc002mkp.2	-	42	39585	c.39381T>G	c.(39379-39381)GGT>GGG	p.G13127G	MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13129	Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GATGGGTGAAACCTGCATAGG	0.522													C	9007843	A	C	9007843	2	2	9	1	0	0	0	0	0	0	0	1	9973	57	2	5		5	MUC16	19	9007843	Silent	SNP	A	TCGA-BR-4253-01A-01D-1126-08		9007843	50121140	78	8748											
BEST2	54831	broad.mit.edu	37	chr19	12866250	12866250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcactatgactggattagcGtacccctcgtgtacacgcag	9	12	1	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr19:12866250G>A	uc002mux.2	+	5	694	c.694G>A	c.(694-696)GTA>ATA	p.V232I		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	vitelliform macular dystrophy 2-like 1	232					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			ovary(1)|pancreas(1)	2						CTGGATTAGCGTACCCCTCGT	0.507													A	12866250	G	A	12866250	3	1	9	1	0	0	0	0	1	0	0	0	1405	1145	40	1	712	1	BEST2	19	12866250	Missense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08	3858407	12866250	46262733	79	8749											
OR10H2	26538	broad.mit.edu	37	chr19	15839222	15839222	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatgggctacgaccgctaCgtggccatctgccaccccct	10	17	2	0			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr19:15839222C>T	uc002nbm.2	+	1	389	c.369C>T	c.(367-369)TAC>TAT	p.Y123Y		NM_013939	NP_039227	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H,	123	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					ACGACCGCTACGTGGCCATCT	0.647													T	15839222	C	T	15839222	2	4	9	1	0	0	0	0	0	0	0	1	10906	547	19	1		1	OR10H2	19	15839222	Silent	SNP	C	TCGA-BR-4253-01A-01D-1126-08	2972972	15839222	43289761	80	8750											
SSBP4	170463	broad.mit.edu	37	chr19	18538736	18538736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacctgtactgcgcggcgCctgacagaagagaggcctgc	16	12	0	3			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr19:18538736C>T	uc002niy.2	+	4	461	c.223C>T	c.(223-225)CCT>TCT	p.P75S	SSBP4_uc010ebp.2_Missense_Mutation_p.P75S|SSBP4_uc002niz.2_Missense_Mutation_p.P75S	NM_032627	NP_116016	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4 isoform a	75						nucleus	single-stranded DNA binding				0						CTGCGCGGCGCCTGACAGAAG	0.662													T	18538736	C	T	18538736	3	4	9	1	0	0	0	0	1	0	0	0	15181	739	26	2	237	2	SSBP4	19	18538736	Missense_Mutation	SNP	C	TCGA-BR-4253-01A-01D-1126-08	2699514	18538736	40590247	81	8751											
ZNF492	57615	broad.mit.edu	37	chr19	22846716	22846716	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgtgaaaatttacagttaaGaaaatactgtaaaagcatgg	8	3	0	2			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr19:22846716G>A	uc002nqw.3	+	4	489	c.245G>A	c.(244-246)AGA>AAA	p.R82K		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TTACAGTTAAGAAAATACTGT	0.343													A	22846716	G	A	22846716	3	1	9	1	0	0	0	0	1	0	0	0	17940	942	33	4	255	4	ZNF492	19	22846716	Missense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08	4307980	22846716	36282267	82	8752			1	2		2	2	28	G		8.634262e-05
ZNF492	57615	broad.mit.edu	37	chr19	22846743	22846743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaaaagcatggatgagtGtaaggtgcacaaagaatgtt	12	4	0	2			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr19:22846743G>A	uc002nqw.3	+	4	516	c.272G>A	c.(271-273)TGT>TAT	p.C91Y		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ATGGATGAGTGTAAGGTGCAC	0.303													A	22846743	G	A	22846743	3	1	9	1	0	0	0	0	1	0	0	0	17940	1377	48	4	282	4	ZNF492	19	22846743	Missense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08	27	22846743	36282240	83	8753			1	2		2	2	28	G		8.634262e-05
WDR88	126248	broad.mit.edu	37	chr19	33647307	33647307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgttttaccttcagtggcCatttcctgtgtacaagctcc	8	12	1	0			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr19:33647307C>T	uc002nui.2	+	7	934	c.856C>T	c.(856-858)CAT>TAT	p.H286Y		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	286	WD 5.									ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					CTTCAGTGGCCATTTCCTGTG	0.488													T	33647307	C	T	33647307	3	4	9	1	0	0	0	0	1	0	0	0	17332	594	21	4	882	4	WDR88	19	33647307	Missense_Mutation	SNP	C	TCGA-BR-4253-01A-01D-1126-08	10800564	33647307	25481676	84	8754											
MEIS3	56917	broad.mit.edu	37	chr19	47910682	47910682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcctccgaggggtacgGgtgctgcagccaccagcaag	14	14	0	0			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr19:47910682G>A	uc002pgu.2	-	9	1309	c.862C>T	c.(862-864)CCG>TCG	p.P288S	MEIS3_uc010xyp.1_RNA|MEIS3_uc002pgo.2_Missense_Mutation_p.P87S|MEIS3_uc002pgp.2_Missense_Mutation_p.P120S|MEIS3_uc002pgq.2_Missense_Mutation_p.P369S|MEIS3_uc002pgr.2_Missense_Mutation_p.P156S|MEIS3_uc002pgt.2_Missense_Mutation_p.P271S|MEIS3_uc002pgv.2_Missense_Mutation_p.P317S|MEIS3_uc002pgs.2_Missense_Mutation_p.P334S|MEIS3_uc010eld.2_Missense_Mutation_p.P334S	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Meis1, myeloid ecotropic viral integration site	288	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GAGGGGTACGGGTGCTGCAGC	0.627													A	47910682	G	A	47910682	3	1	9	1	0	0	0	0	1	0	0	0	9469	1232	43	4	281	4	MEIS3	19	47910682	Missense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08	14263375	47910682	11218301	85	8755											
ZNF665	79788	broad.mit.edu	37	chr19	53678815	53678815	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatggccacatccttgaatgTcaactgtccctaaaatgaaa	6	10	1	2			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr19:53678815T>G	uc010eqm.1	-	3	125	c.25A>C	c.(25-27)ACA>CCA	p.T9P		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	Error:Variant_position_missing_in_Q9H7R5_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		TCCTTGAATGTCAACTGTCCC	0.413													G	53678815	T	G	53678815	3	3	9	1	0	0	0	0	1	0	0	0	18070	1667	58	5	2019	5	ZNF665	19	53678815	Missense_Mutation	SNP	T	TCGA-BR-4253-01A-01D-1126-08	5768133	53678815	5450168	86	8756											
NLRP5	126206	broad.mit.edu	37	chr19	56539808	56539808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccgtatttgcggaaaattCgggtggatgtcaaagggatc	14	6	1	0			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr19:56539808C>T	uc002qmj.2	+	7	2209	c.2209C>T	c.(2209-2211)CGG>TGG	p.R737W	NLRP5_uc002qmi.2_Missense_Mutation_p.R718W	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	737	LRR 2.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCGGAAAATTCGGGTGGATGT	0.498													T	56539808	C	T	56539808	3	4	9	1	0	0	0	0	1	0	0	0	10480	875	31	1	2235	1	NLRP5	19	56539808	Missense_Mutation	SNP	C	TCGA-BR-4253-01A-01D-1126-08	2860993	56539808	2589175	87	8757											
ZNF419	79744	broad.mit.edu	37	chr19	58004449	58004449	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgatcagctcaggtgttcTcaagcaccaggtgactcaca	9	13	4	2			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr19:58004449T>C	uc002qov.2	+	5	764	c.524T>C	c.(523-525)CTC>CCC	p.L175P	ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.L176P|ZNF419_uc010etz.1_Missense_Mutation_p.L163P|ZNF419_uc010eua.1_Missense_Mutation_p.L162P|ZNF419_uc002qow.2_Missense_Mutation_p.L143P|ZNF419_uc010eub.1_Missense_Mutation_p.L130P|ZNF419_uc010euc.1_Missense_Mutation_p.L129P	NM_024691	NP_078967	Q96HQ0	ZN419_HUMAN	zinc finger protein 419 isoform 2	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TCAGGTGTTCTCAAGCACCAG	0.502													C	58004449	T	C	58004449	3	2	9	1	0	0	0	0	1	0	0	0	17893	1551	54	3	545	3	ZNF419	19	58004449	Missense_Mutation	SNP	T	TCGA-BR-4253-01A-01D-1126-08	1464641	58004449	1124534	88	8758											
C20orf194	25943	broad.mit.edu	37	chr20	3245153	3245153	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgttttctgagagaatcAgctcaatgtcttcattcctt	6	9	5	2			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr20:3245153A>C	uc002wii.2	-	31	2855	c.2804T>G	c.(2803-2805)CTG>CGG	p.L935R	C20orf194_uc002wij.3_Missense_Mutation_p.L674R|C20orf194_uc002wik.2_Missense_Mutation_p.L609R	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	935											0						TGAGAGAATCAGCTCAATGTC	0.294													C	3245153	A	C	3245153	3	2	9	1	0	0	0	0	1	0	0	0	2099	188	7	5	757	5	C20orf194	20	3245153	Missense_Mutation	SNP	A	TCGA-BR-4253-01A-01D-1126-08		3245153	59780367	89	8759											
PROCR	10544	broad.mit.edu	37	chr20	33764014	33764014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggctgtgagctgcctccCgagggctctagagcccatgt	14	13	1	2			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr20:33764014C>T	uc002xbt.2	+	3	550	c.366C>T	c.(364-366)CCC>CCT	p.P122P	EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Silent_p.P159P	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	endothelial protein C receptor precursor	122	Extracellular (Potential).				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity				0			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	AGCTGCCTCCCGAGGGCTCTA	0.612													T	33764014	C	T	33764014	2	4	9	1	0	0	0	0	0	0	0	1	12547	639	23	1		1	PROCR	20	33764014	Silent	SNP	C	TCGA-BR-4253-01A-01D-1126-08	30518861	33764014	29261506	90	8760											
GNAS	2778	broad.mit.edu	37	chr20	57478739	57478739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttcagaccattgtggccGccatgagcaacctggtgccc	10	13	1	2			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr20:57478739G>A	uc002xzw.2	+	5	2539	c.2254G>A	c.(2254-2256)GCC>ACC	p.A752T	GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.A50T|GNAS_uc002xzx.2_Missense_Mutation_p.A50T|GNAS_uc010gjr.2_5'UTR|GNAS_uc002xzy.2_Missense_Mutation_p.A35T|GNAS_uc002yaa.2_Missense_Mutation_p.A95T|GNAS_uc010zzt.1_Missense_Mutation_p.A110T|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_5'UTR|GNAS_uc002yae.2_Missense_Mutation_p.A34T	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	109					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CATTGTGGCCGCCATGAGCAA	0.557			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			A	57478739	G	A	57478739	3	1	9	1	0	0	0	0	1	0	0	0	6510	1087	38	1	3160	1	GNAS	20	57478739	Missense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08	23714725	57478739	5546781	91	8761											
YTHDF1	54915	broad.mit.edu	37	chr20	61834910	61834910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccccatgctgagaacgCagggttttcagggaaaaaat	11	9	1	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr20:61834910C>T	uc002yeh.2	-	4	676	c.382G>A	c.(382-384)GCG>ACG	p.A128T	YTHDF1_uc011aaq.1_Missense_Mutation_p.A78T	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	128										ovary(2)	2						GCTGAGAACGCAGGGTTTTCA	0.567													T	61834910	C	T	61834910	3	4	9	1	0	0	0	0	1	0	0	0	17495	710	25	2	1305	2	YTHDF1	20	61834910	Missense_Mutation	SNP	C	TCGA-BR-4253-01A-01D-1126-08	4356171	61834910	1190610	92	8762											
VCX3A	51481	broad.mit.edu	37	chrX	6451795	6451795	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagctggccgtctacacactCggtagttcttccatctcgct	8	14	3	0			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chrX:6451795C>T	uc004crs.2	-	3	859	c.552G>A	c.(550-552)CCG>CCA	p.P184P	VCX3A_uc010ndk.1_Intron	NM_016379	NP_057463	Q9NNX9	VCX3_HUMAN	variable charge, X-linked 3A	184	Glu-rich.				brain development	nucleolus					0						TCTACACACTCGGTAGTTCTT	0.592													T	6451795	C	T	6451795	2	4	9	1	0	0	0	0	0	0	0	1	17141	871	31	1		1	VCX3A	23	6451795	Silent	SNP	C	TCGA-BR-4253-01A-01D-1126-08		6451795	148818765	93	8763											
CDKL5	6792	broad.mit.edu	37	chrX	18622032	18622032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaacatagaaaccaagccGgcaaaagtactgctttgcag	8	9	0	1			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chrX:18622032G>A	uc004cym.2	+	12	1241	c.988G>A	c.(988-990)GGC>AGC	p.G330S	CDKL5_uc004cyn.2_Missense_Mutation_p.G330S	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	330					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					AAACCAAGCCGGCAAAAGTAC	0.428													A	18622032	G	A	18622032	3	1	9	1	0	0	0	0	1	0	0	0	3157	1116	39	1	1030	1	CDKL5	23	18622032	Missense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08	12170237	18622032	136648528	94	8764											
PLP2	5355	broad.mit.edu	37	chrX	49029563	49029563	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgagatgatccttgctgctAttttctttgttgtctacatg	8	7	2	2			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chrX:49029563A>G	uc004dmx.2	+	2	259	c.184A>G	c.(184-186)ATT>GTT	p.I62V		NM_002668	NP_002659	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic	62	Helical; (Potential).|MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity				0						CCTTGCTGCTATTTTCTTTGT	0.512													G	49029563	A	G	49029563	3	3	9	1	0	0	0	0	1	0	0	0	12105	449	16	3	190	3	PLP2	23	49029563	Missense_Mutation	SNP	A	TCGA-BR-4253-01A-01D-1126-08	30407531	49029563	106240997	95	8765											
KLHL4	56062	broad.mit.edu	37	chrX	86868966	86868966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgcagagcaaactcttcGtaaaatggagaactacttga	8	10	1	3			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chrX:86868966G>A	uc004efb.2	+	2	691	c.509G>A	c.(508-510)CGT>CAT	p.R170H	KLHL4_uc004efa.2_Missense_Mutation_p.R170H	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	170						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CAAACTCTTCGTAAAATGGAG	0.403													A	86868966	G	A	86868966	3	1	9	1	0	0	0	0	1	0	0	0	8391	1145	40	1	515	1	KLHL4	23	86868966	Missense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08	37839403	86868966	68401594	96	8766											
GPRASP1	9737	broad.mit.edu	37	chrX	101911301	101911301	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggtttggggccagagaagaGaccattagaagagaggctgg	17	5	0	4			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chrX:101911301G>C	uc004ejj.3	+	5	3261	c.2460G>C	c.(2458-2460)GAG>GAC	p.E820D	GPRASP1_uc004eji.3_Missense_Mutation_p.E820D|GPRASP1_uc010nod.2_Missense_Mutation_p.E820D	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	820	Glu-rich.					cytoplasm	protein binding			ovary(1)|lung(1)	2						CCAGAGAAGAGACCATTAGAA	0.502													C	101911301	G	C	101911301	3	2	9	1	0	0	0	0	1	0	0	0	6722	933	33	5	2462	5	GPRASP1	23	101911301	Missense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08	15042335	101911301	53359259	97	8767											
KLHL13	90293	broad.mit.edu	37	chrX	117054233	117054233	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccttgaagtaatcactagcaGatgccatcatgactctatgc	7	11	3	3			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chrX:117054233G>C	uc004eql.2	-	3	403	c.341C>G	c.(340-342)TCT>TGT	p.S114C	KLHL13_uc004eqk.2_Missense_Mutation_p.S63C|KLHL13_uc011mtn.1_Translation_Start_Site|KLHL13_uc011mto.1_Missense_Mutation_p.S108C|KLHL13_uc011mtp.1_Missense_Mutation_p.S116C|KLHL13_uc004eqm.2_Missense_Mutation_p.S63C|KLHL13_uc011mtq.1_Missense_Mutation_p.S98C	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	114	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)|skin(1)	2						ATCACTAGCAGATGCCATCAT	0.403													C	117054233	G	C	117054233	3	2	9	1	0	0	0	0	1	0	0	0	8369	942	33	5	1646	5	KLHL13	23	117054233	Missense_Mutation	SNP	G	TCGA-BR-4253-01A-01D-1126-08	15142932	117054233	38216327	98	8768											
KIAA1210	57481	broad.mit.edu	37	chrX	118221164	118221164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctttgatgacatctgtggCtggaatttagacctatctga	9	9	2	4			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chrX:118221164C>T	uc004era.3	-	11	4029	c.4029G>A	c.(4027-4029)CAG>CAA	p.Q1343Q		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	1343										ovary(4)|skin(1)	5						ACATCTGTGGCTGGAATTTAG	0.483													T	118221164	C	T	118221164	2	4	9	1	0	0	0	0	0	0	0	1	8214	796	28	2		2	KIAA1210	23	118221164	Silent	SNP	C	TCGA-BR-4253-01A-01D-1126-08	1166931	118221164	37049396	99	8769											
MTF2	22823	broad.mit.edu	37	chr1	93594899	93594899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggttgcgaattcgtgttcctCctgtgccaccaaatgtggct	11	11	0	0			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr1:93594899C>T	uc009wdj.2	+	11	1346	c.1054C>T	c.(1054-1056)CCT>TCT	p.P352S	MTF2_uc010oth.1_Missense_Mutation_p.P250S|MTF2_uc009wdk.2_Intron|MTF2_uc001dpi.3_Missense_Mutation_p.P79S|MTF2_uc010oti.1_Missense_Mutation_p.P250S|MTF2_uc001dpj.3_Missense_Mutation_p.P250S|MTF2_uc001dpl.3_Missense_Mutation_p.P250S|MTF2_uc001dpm.3_Missense_Mutation_p.P21S	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription	352						nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TCGTGTTCCTCCTGTGCCACC	0.323													T	93594899	C	T	93594899	3	4	10	1	0	0	0	0	1	0	0	0	9923	855	30	4	1096	4	MTF2	1	93594899	Missense_Mutation	SNP	C	TCGA-BR-4255-01A-01D-1126-08		93594899	155655722	1	8770											
WNT2B	7482	broad.mit.edu	37	chr1	113058764	113058764	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacaattctctctctaggtAgccgagaggcagcttttgta	9	10	2	1			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr1:113058764A>G	uc001ecb.2	+	3	921	c.406A>G	c.(406-408)AGC>GGC	p.S136G	WNT2B_uc001eca.2_Missense_Mutation_p.S117G|WNT2B_uc009wgg.2_Missense_Mutation_p.S44G	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family,	136					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			ovary(2)|breast(2)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCTCTAGGTAGCCGAGAGGC	0.517													G	113058764	A	G	113058764	3	3	10	1	0	0	0	0	1	0	0	0	17384	420	15	3	549	3	WNT2B	1	113058764	Missense_Mutation	SNP	A	TCGA-BR-4255-01A-01D-1126-08	19463865	113058764	136191857	2	8771											
PTGFRN	5738	broad.mit.edu	37	chr1	117491914	117491914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagccgatgacgtccggccCgaggtgacgtggtccttcag	15	13	1	2	rs140719535		TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr1:117491914C>T	uc001egv.1	+	4	1070	c.933C>T	c.(931-933)CCC>CCT	p.P311P		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	311	Ig-like C2-type 3.|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			liver(1)	1	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		ACGTCCGGCCCGAGGTGACGT	0.607													T	117491914	C	T	117491914	2	4	10	1	0	0	0	0	0	0	0	1	12750	639	23	1		1	PTGFRN	1	117491914	Silent	SNP	C	TCGA-BR-4255-01A-01D-1126-08	4433150	117491914	131758707	3	8772											
PIAS3	10401	broad.mit.edu	37	chr1	145584516	145584516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccagccatcctcggtgCtaaggagccctgctatgggc	12	15	0	0			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr1:145584516C>T	uc001eoc.1	+	12	1574	c.1483C>T	c.(1483-1485)CTA>TTA	p.L495L	NBPF10_uc001emp.3_Intron|PIAS3_uc001eod.1_Silent_p.L164L	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	495					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATCCTCGGTGCTAAGGAGCCC	0.607													T	145584516	C	T	145584516	2	4	10	1	0	0	0	0	0	0	0	1	11877	796	28	2		2	PIAS3	1	145584516	Silent	SNP	C	TCGA-BR-4255-01A-01D-1126-08	28092602	145584516	103666105	4	8773											
OTUD7B	56957	broad.mit.edu	37	chr1	149921651	149921651	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggacctccaaaggcagaTagattcctccaaagggaata	10	10	0	2			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr1:149921651T>C	uc001etn.2	-	9	1360	c.1004A>G	c.(1003-1005)TAT>TGT	p.Y335C		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	335	Catalytic.|OTU.|TRAF-binding.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CAAAGGCAGATAGATTCCTCC	0.532													C	149921651	T	C	149921651	3	2	10	1	0	0	0	0	1	0	0	0	11319	1406	49	3	1543	3	OTUD7B	1	149921651	Missense_Mutation	SNP	T	TCGA-BR-4255-01A-01D-1126-08	4337135	149921651	99328970	5	8774											
PRRX1	5396	broad.mit.edu	37	chr1	170688997	170688997	+	Frame_Shift_Del	DEL	A	A	-													tatcctgatgcttttgtgcgAgaagaccttgcccgccgggt							TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr1:170688996_170688996GA>G	uc001ghf.3	+	1	418	c.371_371GA>G	c.(370-372)cgafs	p.R124fs	PRRX1_uc001ghe.3_Frame_Shift_Del_p.R124fs	NM_022716	NP_073207	P54821	PRRX1_HUMAN	Homo sapiens paired related homeobox 1 (PRRX1), transcript variant pmx-1b, mRNA.	124						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R124L(2)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTTTTGTGCGAGAAGACCTT	0.547													-	170688997	A	-	170688997	7	5	10	1	0	1	0	1	0	0	0	0	12612	291	11	0	378	0	PRRX1	1	170688997	Frame_Shift_Del	DEL	A	TCGA-BR-4255-01A-01D-1126-08	20767346	170688997	78561624	6	8775											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48848413	48848413	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgcacagcttgcaccaaacAttgcaatcgtcaacaggttg	8	13	1	0			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr2:48848413A>T	uc010yol.1	+	4	2390	c.2343A>T	c.(2341-2343)ACA>ACT	p.T781T	STON1-GTF2A1L_uc002rwp.1_Silent_p.T781T|GTF2A1L_uc002rws.1_Silent_p.T77T|GTF2A1L_uc010yom.1_Silent_p.T43T|GTF2A1L_uc002rwt.2_Silent_p.T77T	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	781					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGCACCAAACATTGCAATCGT	0.388													T	48848413	A	T	48848413	2	4	10	1	0	0	0	0	0	0	0	1	15316	204	8	5		5	STON1-GTF2A1L	2	48848413	Silent	SNP	A	TCGA-BR-4255-01A-01D-1126-08		48848413	194350960	7	8776											
TSGA10	80705	broad.mit.edu	37	chr2	99725896	99725896	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacttttagacctacttcGcatcatctttctcaaatgtt	5	10	3	1			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr2:99725896G>A	uc002szg.3	-	4	635	c.7C>T	c.(7-9)CGA>TGA	p.R3*	TSGA10_uc002szh.3_Nonsense_Mutation_p.R3*|TSGA10_uc002szi.3_Nonsense_Mutation_p.R3*|TSGA10_uc010fin.1_Nonsense_Mutation_p.R3*|TSGA10_uc010yvn.1_Nonsense_Mutation_p.R3*	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	3					spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2						GACCTACTTCGCATCATCTTT	0.393													A	99725896	G	A	99725896	4	1	10	1	0	0	0	0	0	1	0	0	16614	1095	38	1	2153	1	TSGA10	2	99725896	Nonsense_Mutation	SNP	G	TCGA-BR-4255-01A-01D-1126-08	50877483	99725896	143473477	8	8777											
IL18RAP	8807	broad.mit.edu	37	chr2	103059744	103059744	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaatggtacatcaaagattCtgacctagagtgggaagtct	10	6	3	3			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr2:103059744C>A	uc002tbx.2	+	8	1365	c.881C>A	c.(880-882)TCT>TAT	p.S294Y	IL18RAP_uc010fiz.2_Missense_Mutation_p.S152Y	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	294	Ig-like C2-type 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			skin(3)|ovary(2)	5						ATCAAAGATTCTGACCTAGAG	0.403													A	103059744	C	A	103059744	3	1	10	1	0	0	0	0	1	0	0	0	7648	913	32	5	903	5	IL18RAP	2	103059744	Missense_Mutation	SNP	C	TCGA-BR-4255-01A-01D-1126-08	3333848	103059744	140139629	9	8778											
POTEE	445582	broad.mit.edu	37	chr2	131976213	131976213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggagtggcaagagcaacGtgggcgcttctggagaccac	18	9	1	2			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr2:131976213G>A	uc002tsn.2	+	1	290	c.238G>A	c.(238-240)GTG>ATG	p.V80M	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Translation_Start_Site|POTEE_uc002tsl.2_Translation_Start_Site	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	80							ATP binding				0						CAAGAGCAACGTGGGCGCTTC	0.602													A	131976213	G	A	131976213	3	1	10	1	0	0	0	0	1	0	0	0	12264	1145	40	1	240	1	POTEE	2	131976213	Missense_Mutation	SNP	G	TCGA-BR-4255-01A-01D-1126-08	28916469	131976213	111223160	10	8779											
LRP1B	53353	broad.mit.edu	37	chr2	141707814	141707814	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattactaaccttctttagtAcaattgatctgggcttcatc	5	9	3	1			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr2:141707814A>G	uc002tvj.1	-	20	4098	c.3126T>C	c.(3124-3126)TGT>TGC	p.C1042C	LRP1B_uc010fnl.1_Silent_p.C224C	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1042	Extracellular (Potential).|LDL-receptor class A 7.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTCTTTAGTACAATTGATCT	0.363										TSP Lung(27;0.18)			G	141707814	A	G	141707814	2	3	10	1	0	0	0	0	0	0	0	1	8955	389	14	3		3	LRP1B	2	141707814	Silent	SNP	A	TCGA-BR-4255-01A-01D-1126-08	9731601	141707814	101491559	11	8780											
SCN9A	6335	broad.mit.edu	37	chr2	167133781	167133781	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggttacctagagcccctacTgagttaccaatgatcttaat	7	10	1	3			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr2:167133781T>A	uc010fpl.2	-	16	2894	c.2553A>T	c.(2551-2553)TCA>TCT	p.S851S	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	862	II.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	GAGCCCCTACTGAGTTACCAA	0.413													A	167133781	T	A	167133781	2	1	10	1	0	0	0	0	0	0	0	1	13925	1567	55	5		5	SCN9A	2	167133781	Silent	SNP	T	TCGA-BR-4255-01A-01D-1126-08	25425967	167133781	76065592	12	8781											
ITGA4	3676	broad.mit.edu	37	chr2	182360534	182360534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacctgtagtaattgttgaCgcttctttaagccaccctga	8	10	1	3			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr2:182360534C>T	uc002unu.2	+	14	2173	c.1410C>T	c.(1408-1410)GAC>GAT	p.D470D	ITGA4_uc010frj.1_5'Flank	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	470	FG-GAP 7.|Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TAATTGTTGACGCTTCTTTAA	0.358													T	182360534	C	T	182360534	2	4	10	1	0	0	0	0	0	0	0	1	7878	535	19	1		1	ITGA4	2	182360534	Silent	SNP	C	TCGA-BR-4255-01A-01D-1126-08	15226753	182360534	60838839	13	8782											
PMS1	5378	broad.mit.edu	37	chr2	190660534	190660534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattgaggtgcgagataacGgggagggtatcaaggctgtt	16	4	1	2			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr2:190660534G>A	uc002urh.3	+	3	701	c.172G>A	c.(172-174)GGG>AGG	p.G58R	PMS1_uc010zga.1_Missense_Mutation_p.G58R|PMS1_uc010zgb.1_Intron|PMS1_uc002urk.3_Missense_Mutation_p.G58R|PMS1_uc002uri.3_Missense_Mutation_p.G58R|PMS1_uc010zgc.1_5'UTR|PMS1_uc010zgd.1_Intron|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.G58R|PMS1_uc010frz.2_Missense_Mutation_p.G58R|PMS1_uc010zfz.1_Missense_Mutation_p.G58R	NM_000534	NP_000525	P54277	PMS1_HUMAN	postmeiotic segregation 1 isoform a	58					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GCGAGATAACGGGGAGGGTAT	0.328			Mis|N			colorectal|endometrial|ovarian		Direct_reversal_of_damage|MMR					A	190660534	G	A	190660534	3	1	10	1	0	0	0	0	1	0	0	0	12142	1116	39	1	178	1	PMS1	2	190660534	Missense_Mutation	SNP	G	TCGA-BR-4255-01A-01D-1126-08	8300000	190660534	52538839	14	8783											
NFKBIZ	64332	broad.mit.edu	37	chr3	101572358	101572358	+	Frame_Shift_Del	DEL	C	C	-													aaccaaacctctttgatggtCcagaatcacagttttgccca							TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr3:101572357_101572357TC>T	uc003dvp.3	+	4	1102	c.987_987TC>T	c.(985-987)ggtfs	p.G329fs	NFKBIZ_uc003dvo.3_Frame_Shift_Del_p.G229fs|NFKBIZ_uc010hpo.3_Frame_Shift_Del_p.G229fs|NFKBIZ_uc003dvq.3_Intron	NM_031419	NP_001005474	Q9BYH8	IKBZ_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta (NFKBIZ), transcript variant 1, mRNA.	329	Required for transcriptional activity (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TCTTTGATGGTCCAGAATCAC	0.473													-	101572358	C	-	101572358	7	5	10	1	0	1	0	1	0	0	0	0	10383	855	30	0	1006	0	NFKBIZ	3	101572358	Frame_Shift_Del	DEL	C	TCGA-BR-4255-01A-01D-1126-08		101572358	96450072	15	8784											
CD96	10225	broad.mit.edu	37	chr3	111264125	111264125	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaaactcctgagaatggGtcaaaatggactctgcactt	9	9	2	2			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr3:111264125G>A	uc003dxw.2	+	2	464	c.294G>A	c.(292-294)GGG>GGA	p.G98G	CD96_uc003dxv.2_Silent_p.G98G|CD96_uc003dxx.2_Silent_p.G98G|CD96_uc010hpy.1_Silent_p.G98G	NM_198196	NP_937839	P40200	TACT_HUMAN	CD96 antigen isoform 1 precursor	98	Extracellular (Potential).|Ig-like V-type 1.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				skin(2)|central_nervous_system(1)	3						CTGAGAATGGGTCAAAATGGA	0.448									Opitz_Trigonocephaly_syndrome				A	111264125	G	A	111264125	2	1	10	1	0	0	0	0	0	0	0	1	3048	1248	44	4		4	CD96	3	111264125	Silent	SNP	G	TCGA-BR-4255-01A-01D-1126-08	9691767	111264125	86758305	16	8785											
CCDC80	151887	broad.mit.edu	37	chr3	112356885	112356885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctacttacaaggagtcttCgtttgccttcaaaggacccc	9	12	2	0			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr3:112356885C>T	uc003dzf.2	-	2	2086	c.1868G>A	c.(1867-1869)CGA>CAA	p.R623Q	CCDC80_uc011bhv.1_Missense_Mutation_p.R623Q|CCDC80_uc003dzg.2_Missense_Mutation_p.R623Q|CCDC80_uc003dzh.1_Missense_Mutation_p.R623Q	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	623										ovary(2)	2						AAGGAGTCTTCGTTTGCCTTC	0.463													T	112356885	C	T	112356885	3	4	10	1	0	0	0	0	1	0	0	0	2854	884	31	1	1012	1	CCDC80	3	112356885	Missense_Mutation	SNP	C	TCGA-BR-4255-01A-01D-1126-08	1092760	112356885	85665545	17	8786											
PLS1	5357	broad.mit.edu	37	chr3	142416830	142416830	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttagtgatctttcagctctAtgagatgatccgagtgccag	10	8	3	3			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr3:142416830A>G	uc010huv.2	+	12	1451	c.1292A>G	c.(1291-1293)TAT>TGT	p.Y431C	PLS1_uc003euz.2_Missense_Mutation_p.Y431C|PLS1_uc003eva.2_Missense_Mutation_p.Y431C	NM_001145319	NP_001138791	Q14651	PLSI_HUMAN	plastin 1	431	CH 3.|Actin-binding 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(1)	1						TTTCAGCTCTATGAGATGATC	0.433													G	142416830	A	G	142416830	3	3	10	1	0	0	0	0	1	0	0	0	12107	449	16	3	1334	3	PLS1	3	142416830	Missense_Mutation	SNP	A	TCGA-BR-4255-01A-01D-1126-08	30059945	142416830	55605600	18	8787											
PIGZ	80235	broad.mit.edu	37	chr3	196675340	196675340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggggccaggtggtacacgGccccgtccagagcaaaggaa	16	12	0	1			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr3:196675340G>A	uc003fxh.2	-	3	575	c.428C>T	c.(427-429)GCC>GTC	p.A143V		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	143	Helical; (Potential).				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			ovary(3)	3	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GTGGTACACGGCCCCGTCCAG	0.672													A	196675340	G	A	196675340	3	1	10	1	0	0	0	0	1	0	0	0	11905	1203	42	2	1315	2	PIGZ	3	196675340	Missense_Mutation	SNP	G	TCGA-BR-4255-01A-01D-1126-08	54258510	196675340	1347090	19	8788											
CSN1S1	1446	broad.mit.edu	37	chr4	70810618	70810618	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tacccctatgctgtttggtaCtatccacaaatcatgcagta	6	11	1	0			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr4:70810618C>G	uc003hep.1	+	15	502	c.453C>G	c.(451-453)TAC>TAG	p.Y151*	CSN1S1_uc003heq.1_Nonsense_Mutation_p.Y142*|CSN1S1_uc003her.1_Nonsense_Mutation_p.Y143*	NM_001890	NP_001881	P47710	CASA1_HUMAN	casein alpha s1 isoform 1	151						extracellular region	protein binding|transporter activity				0						CTGTTTGGTACTATCCACAAA	0.413													G	70810618	C	G	70810618	4	3	10	1	0	0	0	0	0	1	0	0	3947	576	20	5	507	5	CSN1S1	4	70810618	Nonsense_Mutation	SNP	C	TCGA-BR-4255-01A-01D-1126-08		70810618	120343658	20	8789											
TIGD2	166815	broad.mit.edu	37	chr4	90034294	90034294	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaggattataaactatgcaAacagttcagatcctaccagt	6	8	1	1			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr4:90034294A>G	uc003hsk.2	+	1	327	c.169A>G	c.(169-171)AAC>GAC	p.N57D	FAM13A_uc003hsh.1_5'Flank	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	57					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		AAACTATGCAAACAGTTCAGA	0.373													G	90034294	A	G	90034294	3	3	10	1	0	0	0	0	1	0	0	0	15893	14	1	3	171	3	TIGD2	4	90034294	Missense_Mutation	SNP	A	TCGA-BR-4255-01A-01D-1126-08	19223676	90034294	101119982	21	8790											
UFSP2	55325	broad.mit.edu	37	chr4	186329110	186329110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacaaacaggatttttgaCgttataccgatcaattggtt	8	7	1	2			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr4:186329110C>T	uc003ixo.2	-	9	1218	c.1101G>A	c.(1099-1101)ACG>ACA	p.T367T	UFSP2_uc003ixn.2_Silent_p.T242T|UFSP2_uc003ixq.2_Silent_p.T257T|UFSP2_uc003ixp.2_RNA	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	367						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GGATTTTTGACGTTATACCGA	0.373													T	186329110	C	T	186329110	2	4	10	1	0	0	0	0	0	0	0	1	16935	523	19	1		1	UFSP2	4	186329110	Silent	SNP	C	TCGA-BR-4255-01A-01D-1126-08	96294816	186329110	4825166	22	8791											
GPR98	84059	broad.mit.edu	37	chr5	90074406	90074406	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttttcacatgagcaacttCgagtgtcagaagcacagagg	10	10	2	3			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr5:90074406C>T	uc003kju.2	+	63	12925	c.12829C>T	c.(12829-12831)CGA>TGA	p.R4277*	GPR98_uc003kjt.2_Nonsense_Mutation_p.R1983*|GPR98_uc003kjw.2_5'Flank	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	4277	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGAGCAACTTCGAGTGTCAGA	0.413													T	90074406	C	T	90074406	4	4	10	1	0	0	0	0	0	1	0	0	6721	876	31	1	13079	1	GPR98	5	90074406	Nonsense_Mutation	SNP	C	TCGA-BR-4255-01A-01D-1126-08		90074406	90840854	23	8792											
ETF1	2107	broad.mit.edu	37	chr5	137844018	137844018	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtcatcaaggtcaaaaaaTtcatcgtctcctccttggta	6	10	5	0			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr5:137844018T>C	uc003ldc.3	-	11	1455	c.1290A>G	c.(1288-1290)GAA>GAG	p.E430E	ETF1_uc011cyv.1_Silent_p.E416E|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_Silent_p.E397E	NM_004730	NP_004721	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	430					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGTCAAAAAATTCATCGTCTC	0.488													C	137844018	T	C	137844018	2	2	10	1	0	0	0	0	0	0	0	1	5268	1490	52	3		3	ETF1	5	137844018	Silent	SNP	T	TCGA-BR-4255-01A-01D-1126-08	47769612	137844018	43071242	24	8793											
CDYL	9425	broad.mit.edu	37	chr6	4892004	4892004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaagacagagtatttggttCggtggaaaggctatgacagc	15	5	0	3			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr6:4892004C>T	uc003mwi.2	+	4	375	c.244C>T	c.(244-246)CGG>TGG	p.R82W	CDYL_uc003mwj.2_Missense_Mutation_p.R28W|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_5'UTR|CDYL_uc011dhy.1_5'UTR	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	82	Chromo.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GTATTTGGTTCGGTGGAAAGG	0.408													T	4892004	C	T	4892004	3	4	10	1	0	0	0	0	1	0	0	0	3185	875	31	1	88	1	CDYL	6	4892004	Missense_Mutation	SNP	C	TCGA-BR-4255-01A-01D-1126-08		4892004	166223063	25	8794											
HIST1H2AD	3013	broad.mit.edu	37	chr6	26199399	26199399	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgcggcccacagggaactGgagtccggcccgcgaagagc	15	14	0	1	rs140533379		TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr6:26199399G>A	uc003ngw.2	-	1	73	c.73C>T	c.(73-75)CAG>TAG	p.Q25*	HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank	NM_021065	NP_066409	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	25					nucleosome assembly	nucleosome|nucleus	DNA binding				0		all_hematologic(11;0.196)				ACAGGGAACTGGAGTCCGGCC	0.612													A	26199399	G	A	26199399	4	1	10	1	0	0	0	0	0	1	0	0	7131	1357	47	4	323	4	HIST1H2AD	6	26199399	Nonsense_Mutation	SNP	G	TCGA-BR-4255-01A-01D-1126-08	21307395	26199399	144915668	26	8795											
TRERF1	55809	broad.mit.edu	37	chr6	42236873	42236873	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgaattcgcaggttttgGttggcaaacacctgggtgaa	12	8	0	2			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr6:42236873G>A	uc003osd.2	-	5	1019	c.456C>T	c.(454-456)AAC>AAT	p.N152N	TRERF1_uc011duq.1_Silent_p.N152N|TRERF1_uc003osb.2_5'UTR|TRERF1_uc003osc.2_5'UTR|TRERF1_uc003ose.2_Silent_p.N152N	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	152					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCAGGTTTTGGTTGGCAAACA	0.557													A	42236873	G	A	42236873	2	1	10	1	0	0	0	0	0	0	0	1	16472	1252	44	4		4	TRERF1	6	42236873	Silent	SNP	G	TCGA-BR-4255-01A-01D-1126-08	16037474	42236873	128878194	27	8796											
TPBG	7162	broad.mit.edu	37	chr6	83075655	83075655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggctcacctgtgcatatcCggaaaaaatgaggaatcggg	12	10	1	1			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr6:83075655C>T	uc003pjn.3	+	3	1913	c.977C>T	c.(976-978)CCG>CTG	p.P326L	TPBG_uc010kbj.2_Missense_Mutation_p.P326L|TPBG_uc003pjo.2_Missense_Mutation_p.P326L	NM_006670	NP_006661	Q13641	TPBG_HUMAN	trophoblast glycoprotein precursor	326	Extracellular (Potential).|LRRCT.				cell adhesion	integral to plasma membrane				central_nervous_system(1)	1		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		TGTGCATATCCGGAAAAAATG	0.537													T	83075655	C	T	83075655	3	4	10	1	0	0	0	0	1	0	0	0	16391	652	23	1	979	1	TPBG	6	83075655	Missense_Mutation	SNP	C	TCGA-BR-4255-01A-01D-1126-08	40838782	83075655	88039412	28	8797											
NPY	4852	broad.mit.edu	37	chr7	24325011	24325011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggccagatactactcggCgctgcgacactacatcaacc	8	15	1	1			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr7:24325011C>T	uc003sww.1	+	2	238	c.152C>T	c.(151-153)GCG>GTG	p.A51V		NM_000905	NP_000896	P01303	NPY_HUMAN	neuropeptide Y precursor	51					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity				0						TACTACTCGGCGCTGCGACAC	0.632													T	24325011	C	T	24325011	3	4	10	1	0	0	0	0	1	0	0	0	10607	768	27	1	154	1	NPY	7	24325011	Missense_Mutation	SNP	C	TCGA-BR-4255-01A-01D-1126-08		24325011	134813652	29	8798											
BUD31	8896	broad.mit.edu	37	chr7	99015162	99015162	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgcggtgcattcagacacggGacaccaacttcgggacgaac	12	12	1	1			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr7:99015162G>C	uc003uqf.2	+	5	529	c.328G>C	c.(328-330)GAC>CAC	p.D110H	BUD31_uc011kiu.1_Missense_Mutation_p.D110H|BUD31_uc011kiv.1_Missense_Mutation_p.D110H|BUD31_uc003uqg.3_Missense_Mutation_p.D110H	NM_003910	NP_003901	P41223	BUD31_HUMAN	G10 protein	110					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCAGACACGGGACACCAACTT	0.453													C	99015162	G	C	99015162	3	2	10	1	0	0	0	0	1	0	0	0	1574	1174	41	5	338	5	BUD31	7	99015162	Missense_Mutation	SNP	G	TCGA-BR-4255-01A-01D-1126-08	74690151	99015162	60123501	30	8799											
RBM28	55131	broad.mit.edu	37	chr7	127978360	127978360	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctgcttctaggaggtttTtgaactgaacaaaaccaaaa	7	8	1	2			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr7:127978360T>C	uc003vmp.2	-	5	600	c.485A>G	c.(484-486)AAA>AGA	p.K162R	RBM28_uc003vmo.2_5'Flank|RBM28_uc011koj.1_Intron|RBM28_uc011kok.1_Missense_Mutation_p.K109R	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	162	RRM 2.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			ovary(2)	2						TAGGAGGTTTTTGAACTGAAC	0.418													C	127978360	T	C	127978360	3	2	10	1	0	0	0	0	1	0	0	0	13128	1841	64	3	1854	3	RBM28	7	127978360	Missense_Mutation	SNP	T	TCGA-BR-4255-01A-01D-1126-08	28963198	127978360	31160303	31	8800											
RBM33	155435	broad.mit.edu	37	chr7	155534608	155534608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgaattacccatagcgccGtcacacgtgatagaaatgag	10	10	1	4			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr7:155534608G>A	uc010lqk.1	+	13	2513	c.2145G>A	c.(2143-2145)CCG>CCA	p.P715P	RBM33_uc011kvv.1_Silent_p.P524P	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	715							nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CCATAGCGCCGTCACACGTGA	0.562													A	155534608	G	A	155534608	2	1	10	1	0	0	0	0	0	0	0	1	13130	1132	40	1		1	RBM33	7	155534608	Silent	SNP	G	TCGA-BR-4255-01A-01D-1126-08	27556248	155534608	3604055	32	8801											
NEIL2	252969	broad.mit.edu	37	chr8	11643642	11643642	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcacacacaggtctacCagaaagaacagtgccctgct	9	14	1	2			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr8:11643642C>T	uc003wug.2	+	5	1534	c.859C>T	c.(859-861)CAG>TAG	p.Q287*	NEIL2_uc003wue.2_Nonsense_Mutation_p.Q287*|NEIL2_uc003wuf.2_Nonsense_Mutation_p.Q226*|NEIL2_uc011kxd.1_Nonsense_Mutation_p.Q171*	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	nei like 2 isoform a	287	FPG-type.				base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding				0	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		ACAGGTCTACCAGAAAGAACA	0.622								BER_DNA_glycosylases					T	11643642	C	T	11643642	4	4	10	1	0	0	0	0	0	1	0	0	10319	595	21	4	878	4	NEIL2	8	11643642	Nonsense_Mutation	SNP	C	TCGA-BR-4255-01A-01D-1126-08		11643642	134720380	33	8802											
FDFT1	2222	broad.mit.edu	37	chr8	11687890	11687890	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atcacctacctttcgagactCagaaaccagagtgtgtttaa	7	10	2	3			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr8:11687890C>G	uc003wui.2	+	6	992	c.840C>G	c.(838-840)CTC>CTG	p.L280L	FDFT1_uc003wuh.2_Silent_p.L216L|FDFT1_uc010lsa.1_Silent_p.L195L|FDFT1_uc011kxe.1_Silent_p.L216L|FDFT1_uc011kxf.1_Silent_p.L237L|FDFT1_uc011kxg.1_Silent_p.L113L|FDFT1_uc003wuj.2_Silent_p.L273L|FDFT1_uc010lsb.2_Silent_p.L216L|FDFT1_uc011kxh.1_Silent_p.L216L|FDFT1_uc011kxi.1_Intron|FDFT1_uc011kxj.1_Silent_p.L216L|FDFT1_uc003wuk.2_Silent_p.L339L|FDFT1_uc011kxk.1_Silent_p.L195L	NM_004462	NP_004453	P37268	FDFT_HUMAN	squalene synthase	280					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity				0	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		TTTCGAGACTCAGAAACCAGA	0.512													G	11687890	C	G	11687890	2	3	10	1	0	0	0	0	0	0	0	1	5802	813	29	5		5	FDFT1	8	11687890	Silent	SNP	C	TCGA-BR-4255-01A-01D-1126-08	44248	11687890	134676132	34	8803											
BRF2	55290	broad.mit.edu	37	chr8	37702081	37702081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagtccctaacttcctgaGgggtacgcaaatactgttct	9	10	1	1			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr8:37702081G>A	uc003xkk.2	-	4	1297	c.1187C>T	c.(1186-1188)CCT>CTT	p.P396L		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	RNA polymerase III transcription initiation	396					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding				0		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			AACTTCCTGAGGGGTACGCAA	0.527													A	37702081	G	A	37702081	3	1	10	1	0	0	0	0	1	0	0	0	1511	1000	35	4	76	4	BRF2	8	37702081	Missense_Mutation	SNP	G	TCGA-BR-4255-01A-01D-1126-08	26014191	37702081	108661941	35	8804											
ZNF704	619279	broad.mit.edu	37	chr8	81553643	81553643	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttcttccagcggcaggcGgtacaccacatgtctcggtt	11	14	2	0			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr8:81553643G>A	uc003yby.1	-	9	1429	c.1197C>T	c.(1195-1197)ACC>ACT	p.T399T		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	399						intracellular	zinc ion binding				0	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			AGCGGCAGGCGGTACACCACA	0.612													A	81553643	G	A	81553643	2	1	10	1	0	0	0	0	0	0	0	1	18104	1103	39	1		1	ZNF704	8	81553643	Silent	SNP	G	TCGA-BR-4255-01A-01D-1126-08	43851562	81553643	64810379	36	8805											
DCAF13	25879	broad.mit.edu	37	chr8	104452417	104452417	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatctgtgtaaaatggacttCtgacagcaagtatattatgt	8	5	2	1			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr8:104452417C>T	uc003yln.2	+	9	1737	c.1460C>T	c.(1459-1461)TCT>TTT	p.S487F	DCAF13_uc003ylm.1_Missense_Mutation_p.S220F|DCAF13_uc003ylo.2_Missense_Mutation_p.S198F	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	335	WD 7.				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						AAATGGACTTCTGACAGCAAG	0.348													T	104452417	C	T	104452417	3	4	10	1	0	0	0	0	1	0	0	0	4266	913	32	4	1494	4	DCAF13	8	104452417	Missense_Mutation	SNP	C	TCGA-BR-4255-01A-01D-1126-08	22898774	104452417	41911605	37	8806											
IFNB1	3456	broad.mit.edu	37	chr9	21077680	21077680	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcagctgcttaatctcCtcagggatgtcaaagttcat	9	10	4	0			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr9:21077680C>T	uc003zok.2	-	1	264	c.189G>A	c.(187-189)GAG>GAA	p.E63E		NM_002176	NP_002167	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast precursor	63					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			ovary(1)|breast(1)|kidney(1)	3				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	GCTTAATCTCCTCAGGGATGT	0.453													T	21077680	C	T	21077680	2	4	10	1	0	0	0	0	0	0	0	1	7546	680	24	4		4	IFNB1	9	21077680	Silent	SNP	C	TCGA-BR-4255-01A-01D-1126-08		21077680	120135751	38	8807											
TEK	7010	broad.mit.edu	37	chr9	27158095	27158095	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttctgtgaagggcgagttCgaggagaggcaatcaggata	15	5	2	2			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr9:27158095C>T	uc003zqi.3	+	2	761	c.319C>T	c.(319-321)CGA>TGA	p.R107*	TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Nonsense_Mutation_p.R107*|TEK_uc011lno.1_Nonsense_Mutation_p.R107*|TEK_uc011lnp.1_Intron|TEK_uc003zqj.1_Nonsense_Mutation_p.R84*	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	107	Extracellular (Potential).|Ig-like C2-type 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AGGGCGAGTTCGAGGAGAGGC	0.463													T	27158095	C	T	27158095	4	4	10	1	0	0	0	0	0	1	0	0	15748	876	31	1	325	1	TEK	9	27158095	Nonsense_Mutation	SNP	C	TCGA-BR-4255-01A-01D-1126-08	6080415	27158095	114055336	39	8808											
DCAF12	25853	broad.mit.edu	37	chr9	34089583	34089583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtagaaactcactgaccGgattcctgaaagacagaaaa	8	10	1	5			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr9:34089583G>A	uc003ztt.2	-	8	1372	c.1030C>T	c.(1030-1032)CGG>TGG	p.R344W		NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	344	WD 4.					centrosome|CUL4 RING ubiquitin ligase complex					0						CTCACTGACCGGATTCCTGAA	0.488													A	34089583	G	A	34089583	3	1	10	1	0	0	0	0	1	0	0	0	4263	1115	39	1	339	1	DCAF12	9	34089583	Missense_Mutation	SNP	G	TCGA-BR-4255-01A-01D-1126-08	6931488	34089583	107123848	40	8809											
FCN1	2219	broad.mit.edu	37	chr9	137805455	137805455	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgactgagactgcccagcGtctcctgtgtggggagagga	15	11	1	2	rs144127766		TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr9:137805455G>A	uc004cfi.2	-	5	404	c.312C>T	c.(310-312)GAC>GAT	p.D104D		NM_002003	NP_001994	O00602	FCN1_HUMAN	ficolin 1 precursor	104					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		ACTGCCCAGCGTCTCCTGTGT	0.592													A	137805455	G	A	137805455	2	1	10	1	0	0	0	0	0	0	0	1	5791	1136	40	1		1	FCN1	9	137805455	Silent	SNP	G	TCGA-BR-4255-01A-01D-1126-08	103715872	137805455	3407976	41	8810											
ZNF248	57209	broad.mit.edu	37	chr10	38121178	38121178	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgagctctccgaagctGggtaagatgtgacttcttgc	13	8	2	3	rs137877519		TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr10:38121178G>T	uc001izd.1	-	6	1604	c.1105C>A	c.(1105-1107)CAG>AAG	p.Q369K	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.Q369K	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTCCGAAGCTGGGTAAGATGT	0.408													T	38121178	G	T	38121178	3	4	10	1	0	0	0	0	1	0	0	0	17790	1357	47	5	638	5	ZNF248	10	38121178	Missense_Mutation	SNP	G	TCGA-BR-4255-01A-01D-1126-08		38121178	97413569	42	8811											
GRID1	2894	broad.mit.edu	37	chr10	87407072	87407072	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccagggggttggtgccctTggctcggaagtactcatata	13	10	1	0			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr10:87407072T>C	uc001kdl.1	-	13	2181	c.2080A>G	c.(2080-2082)AAG>GAG	p.K694E	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.K265E|uc001kdm.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	694	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	TTGGTGCCCTTGGCTCGGAAG	0.537										Multiple Myeloma(13;0.14)			C	87407072	T	C	87407072	3	2	10	1	0	0	0	0	1	0	0	0	6771	1821	63	3	965	3	GRID1	10	87407072	Missense_Mutation	SNP	T	TCGA-BR-4255-01A-01D-1126-08	49285894	87407072	48127675	43	8812											
LOXL4	84171	broad.mit.edu	37	chr10	100015439	100015439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctctgtgcctgagcagcGcaccccactcatcaccacct	7	19	3	1	rs149982668		TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr10:100015439G>A	uc001kpa.1	-	10	1637	c.1486C>T	c.(1486-1488)CGC>TGC	p.R496C		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4 precursor	496	SRCR 4.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			ovary(3)|breast(1)|skin(1)	5		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CCTGAGCAGCGCACCCCACTC	0.637													A	100015439	G	A	100015439	3	1	10	1	0	0	0	0	1	0	0	0	8902	1087	38	1	808	1	LOXL4	10	100015439	Missense_Mutation	SNP	G	TCGA-BR-4255-01A-01D-1126-08	12608367	100015439	35519308	44	8813											
HPSE2	60495	broad.mit.edu	37	chr10	100481463	100481463	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggccgcccaatattagggcCatataagctggctctggaat	11	11	1	0			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr10:100481463C>A	uc001kpn.1	-	5	967	c.907G>T	c.(907-909)GGC>TGC	p.G303C	HPSE2_uc009xwc.1_Missense_Mutation_p.G293C|HPSE2_uc001kpo.1_Missense_Mutation_p.G235C|HPSE2_uc009xwd.1_Missense_Mutation_p.G181C	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	heparanase 2	303					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			ovary(1)	1				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		ATATTAGGGCCATATAAGCTG	0.468													A	100481463	C	A	100481463	3	1	10	1	0	0	0	0	1	0	0	0	7345	594	21	5	941	5	HPSE2	10	100481463	Missense_Mutation	SNP	C	TCGA-BR-4255-01A-01D-1126-08	466024	100481463	35053284	45	8814											
CNNM2	54805	broad.mit.edu	37	chr10	104679833	104679833	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaatgacaccaagttggaCgctatgctggaagaatttaa	9	7	1	2			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr10:104679833C>T	uc001kwm.2	+	1	1720	c.1596C>T	c.(1594-1596)GAC>GAT	p.D532D	CNNM2_uc001kwn.2_Silent_p.D532D|CNNM2_uc001kwl.2_Silent_p.D532D	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	532	CBS 2.				ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCAAGTTGGACGCTATGCTGG	0.458													T	104679833	C	T	104679833	2	4	10	1	0	0	0	0	0	0	0	1	3613	535	19	1		1	CNNM2	10	104679833	Silent	SNP	C	TCGA-BR-4255-01A-01D-1126-08	4198370	104679833	30854914	46	8815											
SLK	9748	broad.mit.edu	37	chr10	105750529	105750529	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatggtagagattgacataTtagcatcttgtgatcaccca	8	8	2	3			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr10:105750529T>C	uc001kxo.1	+	2	281	c.247T>C	c.(247-249)TTA>CTA	p.L83L	SLK_uc001kxp.1_Silent_p.L83L	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	83	Protein kinase.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GATTGACATATTAGCATCTTG	0.368													C	105750529	T	C	105750529	2	2	10	1	0	0	0	0	0	0	0	1	14748	1490	52	3		3	SLK	10	105750529	Silent	SNP	T	TCGA-BR-4255-01A-01D-1126-08	1070696	105750529	29784218	47	8816											
BTBD16	118663	broad.mit.edu	37	chr10	124089067	124089067	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcttcctctgcttgcgTctgcacggcatcaccaaagg	9	16	4	0			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr10:124089067T>C	uc001lgc.1	+	11	1235	c.984T>C	c.(982-984)CGT>CGC	p.R328R	BTBD16_uc001lgd.1_Silent_p.R327R	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	328										skin(1)	1		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TCTGCTTGCGTCTGCACGGCA	0.602													C	124089067	T	C	124089067	2	2	10	1	0	0	0	0	0	0	0	1	1541	1654	58	3		3	BTBD16	10	124089067	Silent	SNP	T	TCGA-BR-4255-01A-01D-1126-08	18338538	124089067	11445680	48	8817											
PPP2R2D	55844	broad.mit.edu	37	chr10	133761176	133761176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtgtgggacctcaacatGgagagcaggccggtggagac	17	8	1	2			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr10:133761176G>A	uc001lks.2	+	6	1107	c.864G>A	c.(862-864)ATG>ATA	p.M288I	PPP2R2D_uc001lkr.2_Missense_Mutation_p.M94I|PPP2R2D_uc001lkt.2_Missense_Mutation_p.M94I|PPP2R2D_uc009yay.2_Missense_Mutation_p.M156I	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B,	321	WD 5.			M -> T (in Ref. 1; BAF85754).	cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			skin(1)	1		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		ACCTCAACATGGAGAGCAGGC	0.498													A	133761176	G	A	133761176	3	1	10	1	0	0	0	0	1	0	0	0	12387	1348	47	4	887	4	PPP2R2D	10	133761176	Missense_Mutation	SNP	G	TCGA-BR-4255-01A-01D-1126-08	9672109	133761176	1773571	49	8818											
MYOD1	4654	broad.mit.edu	37	chr11	17741344	17741344	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatatggagctactgtcGccaccgctccgcgacgtaga	12	13	0	1			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr11:17741344G>A	uc001mni.2	+	1	235	c.15G>A	c.(13-15)TCG>TCA	p.S5S		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	5					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3						AGCTACTGTCGCCACCGCTCC	0.667													A	17741344	G	A	17741344	2	1	10	1	0	0	0	0	0	0	0	1	10088	1074	38	1		1	MYOD1	11	17741344	Silent	SNP	G	TCGA-BR-4255-01A-01D-1126-08		17741344	117265172	50	8819											
CD44	960	broad.mit.edu	37	chr11	35243229	35243229	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatcttggcatccctcttGgccttggctttgattcttgc	8	12	4	1			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr11:35243229G>A	uc001mvu.2	+	17	2408	c.1974G>A	c.(1972-1974)TTG>TTA	p.L658L	CD44_uc001mvv.2_Silent_p.L615L|CD44_uc001mvw.2_Silent_p.L409L|CD44_uc001mvx.2_Silent_p.L277L|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Silent_p.L345L|CD44_uc010rer.1_Silent_p.L256L|CD44_uc009ykh.2_RNA	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	658	Helical; (Potential).				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			pancreas(1)	1	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	CATCCCTCTTGGCCTTGGCTT	0.428													A	35243229	G	A	35243229	2	1	10	1	0	0	0	0	0	0	0	1	3017	1339	47	4		4	CD44	11	35243229	Silent	SNP	G	TCGA-BR-4255-01A-01D-1126-08	17501885	35243229	99763287	51	8820											
C2CD3	26005	broad.mit.edu	37	chr11	73789208	73789208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccccaagtctggccaggtCcacataggctgagccaatcc	9	16	1	1			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr11:73789208C>T	uc001ouu.2	-	23	4782	c.4555G>A	c.(4555-4557)GAC>AAC	p.D1519N	C2CD3_uc001out.2_RNA	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1519						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					CTGGCCAGGTCCACATAGGCT	0.493													T	73789208	C	T	73789208	3	4	10	1	0	0	0	0	1	0	0	0	2154	855	30	4	1372	4	C2CD3	11	73789208	Missense_Mutation	SNP	C	TCGA-BR-4255-01A-01D-1126-08	38545979	73789208	61217308	52	8821											
CACNA1C	775	broad.mit.edu	37	chr12	2706664	2706664	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attagaaattatccttaaggTaatgcaacctgggcaatgca	8	7	0	1			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr12:2706664T>C	uc009zdu.1	+	22	3226	c.2913_splice	c.e22+2	p.K971_splice	CACNA1C_uc009zdv.1_Intron|CACNA1C_uc001qkb.2_Splice_Site_p.K951_splice|CACNA1C_uc001qkc.2_Splice_Site_p.K951_splice|CACNA1C_uc001qke.2_Splice_Site_p.K951_splice|CACNA1C_uc001qkf.2_Splice_Site_p.K951_splice|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Splice_Site_p.K971_splice|CACNA1C_uc001qkn.2_Splice_Site_p.K951_splice|CACNA1C_uc001qko.2_Splice_Site_p.K971_splice|CACNA1C_uc001qkp.2_Splice_Site_p.K951_splice|CACNA1C_uc001qkr.2_Splice_Site_p.K951_splice|CACNA1C_uc001qku.2_Splice_Site_p.K951_splice|CACNA1C_uc001qkq.2_Intron|CACNA1C_uc001qks.2_Intron|CACNA1C_uc001qkt.2_Intron|CACNA1C_uc001qka.1_Splice_Site_p.K486_splice|CACNA1C_uc001qki.1_Intron|CACNA1C_uc001qkj.1_Intron|CACNA1C_uc001qkk.1_Intron|CACNA1C_uc001qkm.1_Intron	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,						axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ATCCTTAAGGTAATGCAACCT	0.388													C	2706664	T	C	2706664	5	2	10	1	0	0	0	0	0	0	1	0	2540	1652	57	3	3109	3	CACNA1C	12	2706664	Splice_Site	SNP	T	TCGA-BR-4255-01A-01D-1126-08		2706664	131145231	53	8822											
VWF	7450	broad.mit.edu	37	chr12	6122735	6122735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttcaccacgttggagtcGcctgctgggcctgccaagat	12	13	1	1			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr12:6122735G>A	uc001qnn.1	-	32	5782	c.5532C>T	c.(5530-5532)GGC>GGT	p.G1844G	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1844	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CGTTGGAGTCGCCTGCTGGGC	0.522													A	6122735	G	A	6122735	2	1	10	1	0	0	0	0	0	0	0	1	17243	1074	38	1		1	VWF	12	6122735	Silent	SNP	G	TCGA-BR-4255-01A-01D-1126-08	3416071	6122735	127729160	54	8823											
SCFD1	23256	broad.mit.edu	37	chr14	31191756	31191756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatatcagaatcttgttgaCtacataaaggtacattttat	6	5	2	2			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr14:31191756C>T	uc001wqm.1	+	23	1851	c.1827C>T	c.(1825-1827)GAC>GAT	p.D609D	SCFD1_uc001wqn.1_Silent_p.D542D|SCFD1_uc010tpg.1_Silent_p.D550D|SCFD1_uc010tph.1_Silent_p.D424D|SCFD1_uc010amf.1_Silent_p.D424D|SCFD1_uc010tpi.1_Silent_p.D517D|SCFD1_uc010ame.1_Missense_Mutation_p.T531I	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	vesicle transport-related protein isoform a	609					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding				0	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		ATCTTGTTGACTACATAAAGG	0.328													T	31191756	C	T	31191756	2	4	10	1	0	0	0	0	0	0	0	1	13889	564	20	4		4	SCFD1	14	31191756	Silent	SNP	C	TCGA-BR-4255-01A-01D-1126-08		31191756	76157784	55	8824											
C15orf55	256646	broad.mit.edu	37	chr15	34647250	34647250	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcattcaccctcaatttcTggcagatctgctgtccccag	7	14	5	1			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr15:34647250T>G	uc001zif.2	+	6	1462	c.1307T>G	c.(1306-1308)CTG>CGG	p.L436R	C15orf55_uc010ucc.1_Missense_Mutation_p.L464R|C15orf55_uc010ucd.1_Missense_Mutation_p.L454R	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	436						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CCTCAATTTCTGGCAGATCTG	0.478			T	BRD3|BRD4	lethal midline carcinoma								G	34647250	T	G	34647250	3	3	10	1	0	0	0	0	1	0	0	0	1803	1580	55	5	1329	5	C15orf55	15	34647250	Missense_Mutation	SNP	T	TCGA-BR-4255-01A-01D-1126-08		34647250	67884142	56	8825											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84566718	84566718	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aactgaagttacacatcaaaGaagaatgtgtcattcccatc	6	9	2	3			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr15:84566718G>T	uc002bjz.3	+	14	1800	c.1576G>T	c.(1576-1578)GAA>TAA	p.E526*	ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.E526*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.E526*	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	526	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACACATCAAAGAAGAATGTGT	0.453													T	84566718	G	T	84566718	4	4	10	1	0	0	0	0	0	1	0	0	276	943	33	5	1626	5	ADAMTSL3	15	84566718	Nonsense_Mutation	SNP	G	TCGA-BR-4255-01A-01D-1126-08	49919468	84566718	17964674	57	8826											
SALL1	6299	broad.mit.edu	37	chr16	51175484	51175484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcccccagaggccccgcCgcacctcgcttcctgggaga	11	19	0	2	rs140165636		TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr16:51175484C>T	uc010vgs.1	-	2	680	c.649G>A	c.(649-651)GGC>AGC	p.G217S	SALL1_uc010vgr.1_Missense_Mutation_p.G120S|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	217					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAGGCCCCGCCGCACCTCGCT	0.592													T	51175484	C	T	51175484	3	4	10	1	0	0	0	0	1	0	0	0	13810	652	23	1	3333	1	SALL1	16	51175484	Missense_Mutation	SNP	C	TCGA-BR-4255-01A-01D-1126-08		51175484	39179269	58	8827											
SF3B3	23450	broad.mit.edu	37	chr16	70602310	70602310	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttatcatctttgctgAtgatacctacccccgatggg	8	13	2	2			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr16:70602310A>T	uc002ezf.2	+	22	3288	c.3077A>T	c.(3076-3078)GAT>GTT	p.D1026V		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	1026					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				ATCTTTGCTGATGATACCTAC	0.468													T	70602310	A	T	70602310	3	4	10	1	0	0	0	0	1	0	0	0	14152	333	12	5	3159	5	SF3B3	16	70602310	Missense_Mutation	SNP	A	TCGA-BR-4255-01A-01D-1126-08	19426826	70602310	19752443	59	8828											
TM4SF5	9032	broad.mit.edu	37	chr17	4675218	4675218	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtccttcctgacacctcaccAtgtgtacgggaaaatgtgcc	9	13	1	1			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr17:4675218A>T	uc002fyw.1	+	1	32	c.1A>T	c.(1-3)ATG>TTG	p.M1L		NM_003963	NP_003954	O14894	T4S5_HUMAN	transmembrane 4 superfamily member 5	1	Cytoplasmic (Potential).					integral to plasma membrane				ovary(1)	1						ACACCTCACCATGTGTACGGG	0.567													T	4675218	A	T	4675218	3	4	10	1	0	0	0	0	1	0	0	0	15968	217	8	5	3	5	TM4SF5	17	4675218	Missense_Mutation	SNP	A	TCGA-BR-4255-01A-01D-1126-08		4675218	76519992	60	8829											
TP53	7157	broad.mit.edu	37	chr17	7578208	7578208	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catagggcaccaccacactaTgtcgaaaagtgtttctgtca	8	11	2	0			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr17:7578208T>C	uc002gim.2	-	6	835	c.641A>G	c.(640-642)CAT>CGT	p.H214R	TP53_uc002gig.1_Missense_Mutation_p.H214R|TP53_uc002gih.2_Missense_Mutation_p.H214R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H82R|TP53_uc010cng.1_Missense_Mutation_p.H82R|TP53_uc002gii.1_Missense_Mutation_p.H82R|TP53_uc010cnh.1_Missense_Mutation_p.H214R|TP53_uc010cni.1_Missense_Mutation_p.H214R|TP53_uc002gij.2_Missense_Mutation_p.H214R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H121R|TP53_uc002gio.2_Missense_Mutation_p.H82R|TP53_uc010vug.1_Missense_Mutation_p.H175R	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	214	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		H -> Y (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H214R(45)|p.0?(7)|p.H214Y(4)|p.H214Q(4)|p.H214D(3)|p.H214fs*5(2)|p.H214fs*33(2)|p.D208fs*1(1)|p.K164_P219del(1)|p.H214H(1)|p.H214fs*7(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CACCACACTATGTCGAAAAGT	0.542		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C	7578208	T	C	7578208	3	2	10	1	0	0	0	0	1	0	0	0	16378	1464	51	3	653	3	TP53	17	7578208	Missense_Mutation	SNP	T	TCGA-BR-4255-01A-01D-1126-08	2902990	7578208	73617002	61	8830											
UBTF	7343	broad.mit.edu	37	chr17	42290195	42290195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggacactcacatctggccGcactttgagatacaccttct	7	15	3	1			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr17:42290195G>A	uc002igb.2	-	6	719	c.652C>T	c.(652-654)CGG>TGG	p.R218W	UBTF_uc002igc.2_Missense_Mutation_p.R218W|UBTF_uc010czs.2_Missense_Mutation_p.R218W|UBTF_uc002igd.2_Missense_Mutation_p.R218W|UBTF_uc010czt.2_Missense_Mutation_p.R218W|UBTF_uc002ige.2_Missense_Mutation_p.R218W	NM_014233	NP_055048	P17480	UBF1_HUMAN	upstream binding transcription factor, RNA	218	HMG box 2.				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ACATCTGGCCGCACTTTGAGA	0.637													A	42290195	G	A	42290195	3	1	10	1	0	0	0	0	1	0	0	0	16906	1086	38	1	1702	1	UBTF	17	42290195	Missense_Mutation	SNP	G	TCGA-BR-4255-01A-01D-1126-08	34711987	42290195	38905015	62	8831											
SIGLEC7	27036	broad.mit.edu	37	chr19	51645712	51645712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggaaggattactcgctgaCgatgcagagttccgtgaccg	13	11	0	3	rs140841032		TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr19:51645712C>T	uc002pvv.1	+	1	155	c.86C>T	c.(85-87)ACG>ATG	p.T29M	SIGLEC7_uc002pvw.1_Missense_Mutation_p.T29M|SIGLEC7_uc010eoq.1_RNA|SIGLEC7_uc010eor.1_Missense_Mutation_p.T29M	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7 isoform 1	29	Extracellular (Potential).				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			large_intestine(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		TACTCGCTGACGATGCAGAGT	0.493													T	51645712	C	T	51645712	3	4	10	1	0	0	0	0	1	0	0	0	14313	536	19	1	88	1	SIGLEC7	19	51645712	Missense_Mutation	SNP	C	TCGA-BR-4255-01A-01D-1126-08		51645712	7483271	63	8832											
PYGB	5834	broad.mit.edu	37	chr20	25252030	25252030	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttttcagcgtgtttccttGactcaatggctaccttgggc	9	10	2	1			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr20:25252030G>A	uc002wup.2	+	4	545	c.436G>A	c.(436-438)GAC>AAC	p.D146N		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	146					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	GTGTTTCCTTGACTCAATGGC	0.502													A	25252030	G	A	25252030	3	1	10	1	0	0	0	0	1	0	0	0	12860	1290	45	4	450	4	PYGB	20	25252030	Missense_Mutation	SNP	G	TCGA-BR-4255-01A-01D-1126-08		25252030	37773490	64	8833											
L3MBTL	26013	broad.mit.edu	37	chr20	42169439	42169439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttgtgaggaccaagcacGcctcttcaaagacgaggtaa	12	9	2	2			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr20:42169439G>A	uc010zwh.1	+	21	2358	c.2312G>A	c.(2311-2313)CGC>CAC	p.R771H	L3MBTL_uc002xkl.2_Missense_Mutation_p.R703H|L3MBTL_uc002xkm.2_Missense_Mutation_p.R703H|L3MBTL_uc010ggl.2_Missense_Mutation_p.R708H|L3MBTL_uc002xkn.1_Missense_Mutation_p.R462H|L3MBTL_uc002xko.2_Missense_Mutation_p.R355H|L3MBTL_uc002xkp.2_Missense_Mutation_p.R91H|SGK2_uc002xkq.1_5'UTR	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	703	SAM.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GACCAAGCACGCCTCTTCAAA	0.562													A	42169439	G	A	42169439	3	1	10	1	0	0	0	0	1	0	0	0	8591	1087	38	1	2178	1	L3MBTL	20	42169439	Missense_Mutation	SNP	G	TCGA-BR-4255-01A-01D-1126-08	16917409	42169439	20856081	65	8834											
DOK5	55816	broad.mit.edu	37	chr20	53171572	53171574	+	In_Frame_Del	DEL	ATC	ATC	-													tgctgcatatttcaggtgttAtcataaggtaagactcaatt							TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr20:53171571_53171573TATC>T	uc002xwy.3	+	1	386_388	c.166_168TATC>T	c.(166-168)tat>T	p.Y56del		NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Homo sapiens docking protein 5 (DOK5), mRNA.	56	PH.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			TTTCAGGTGTTATCATAAGGTAA	0.374													-	53171574	ATC	-	53171572	7	5	10	1	0	1	0	1	0	0	0	0	4700	449	16	0	173	0	DOK5	20	53171572	In_Frame_Del	DEL	ATC	TCGA-BR-4255-01A-01D-1126-08	11002133	53171572	9853948	66	8835											
ADARB1	104	broad.mit.edu	37	chr21	46596225	46596225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgactccttcagttccagCggggacctcagcttgtctgc	11	13	3	1			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr21:46596225C>T	uc002zgy.2	+	4	1044	c.609C>T	c.(607-609)AGC>AGT	p.S203S	ADARB1_uc002zgr.2_Silent_p.S203S|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Silent_p.S203S|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Silent_p.S203S|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA|ADARB1_uc011afo.1_Silent_p.S252S	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	203					adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		TCAGTTCCAGCGGGGACCTCA	0.597													T	46596225	C	T	46596225	2	4	10	1	0	0	0	0	0	0	0	1	282	767	27	1		1	ADARB1	21	46596225	Silent	SNP	C	TCGA-BR-4255-01A-01D-1126-08		46596225	1533670	67	8836											
SBF1	6305	broad.mit.edu	37	chr22	50893258	50893258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacctctgcgtcctcgggCgcatacatgtaattgtggaa	10	11	1	0			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chr22:50893258C>T	uc003blh.2	-	35	4992	c.4797G>A	c.(4795-4797)GCG>GCA	p.A1599A	SBF1_uc003ble.2_Silent_p.A75A|SBF1_uc003blf.2_Silent_p.A75A|SBF1_uc011arx.1_Silent_p.A1237A	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1573	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGTCCTCGGGCGCATACATGT	0.652													T	50893258	C	T	50893258	2	4	10	1	0	0	0	0	0	0	0	1	13858	755	27	1		1	SBF1	22	50893258	Silent	SNP	C	TCGA-BR-4255-01A-01D-1126-08		50893258	411308	68	8837											
MAGEC1	9947	broad.mit.edu	37	chrX	140996328	140996328	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagggagctcctcactaaAgtttgggtgcaggaacatta	11	10	1	0			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chrX:140996328A>C	uc004fbt.2	+	4	3424	c.3138A>C	c.(3136-3138)AAA>AAC	p.K1046N	MAGEC1_uc010nsl.1_Missense_Mutation_p.K113N	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1046	MAGE.						protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCACTAAAGTTTGGGTGC	0.552										HNSCC(15;0.026)			C	140996328	A	C	140996328	3	2	10	1	0	0	0	0	1	0	0	0	9180	69	3	5	3144	5	MAGEC1	23	140996328	Missense_Mutation	SNP	A	TCGA-BR-4255-01A-01D-1126-08		140996328	14274232	69	8838											
PLXNA3	55558	broad.mit.edu	37	chrX	153698807	153698807	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacactgcagaagttcgtggAtgacctctttgagacagtgt	11	9	1	3			TCGA-BR-4255-01A-01D-1126-08	TCGA-BR-4255-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c499388-9598-428d-a9b1-1808ce877345	f818c68d-6465-4ea9-a617-1e95a6b5ad0b	g.chrX:153698807A>C	uc004flm.2	+	30	5182	c.5009A>C	c.(5008-5010)GAT>GCT	p.D1670A		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	1670	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGTTCGTGGATGACCTCTTT	0.607													C	153698807	A	C	153698807	3	2	10	1	0	0	0	0	1	0	0	0	12121	333	12	5	5123	5	PLXNA3	23	153698807	Missense_Mutation	SNP	A	TCGA-BR-4255-01A-01D-1126-08	12702479	153698807	1571753	70	8839											
CCNL2	81669	broad.mit.edu	37	chr1	1325840	1325840	+	Splice_Site	DEL	T	T	-													tgaaaaaatgccgaagaaccTttttccgagcataaagctgc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:1325839_1325839CT>C	uc001afi.2	-	7	896	c.864_splice	c.e7+1	p.K288_splice	CCNL2_uc010nym.1_Splice_Site|CCNL2_uc001aff.1_Splice_Site_p.K66_splice|CCNL2_uc001afg.1_Splice_Site_p.K66_splice|CCNL2_uc001afj.2_Splice_Site_p.K66_splice	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA.	288					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GCCGAAGAACCTTTTTCCGAG	0.433													-	1325840	T	-	1325840	8	5	11	1	0	1	0	1	0	0	1	0	2932	1623	56	0	719	0	CCNL2	1	1325840	Splice_Site	DEL	T	TCGA-BR-4256-01A-01D-1126-08		1325840	247924781	1	8840											
ATAD3B	83858	broad.mit.edu	37	chr1	1430883	1430883	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggccacggcatatgcctccAaggacggggtcctcactgag	13	13	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:1430883A>G	uc001afv.2	+	16	1734	c.1633A>G	c.(1633-1635)AAG>GAG	p.K545E	ATAD3B_uc001afx.2_Missense_Mutation_p.K499E|ATAD3B_uc001afy.2_Missense_Mutation_p.K98E	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	AAA-ATPase  TOB3	545							ATP binding|nucleoside-triphosphatase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ATATGCCTCCAAGGACGGGGT	0.642													G	1430883	A	G	1430883	3	3	11	1	0	0	0	0	1	0	0	0	1074	131	5	3	1695	3	ATAD3B	1	1430883	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	105043	1430883	247819738	2	8841											
NPHP4	261734	broad.mit.edu	37	chr1	5940242	5940242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccatcgtttgagatgaccCgagatctggacggtggcaat	12	10	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:5940242C>T	uc001alq.1	-	19	2809	c.2543G>A	c.(2542-2544)CGG>CAG	p.R848Q	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	848					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGATGACCCGAGATCTGGA	0.522													T	5940242	C	T	5940242	3	4	11	1	0	0	0	0	1	0	0	0	10581	652	23	1	1785	1	NPHP4	1	5940242	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	4509359	5940242	243310379	3	8842											
TAS1R1	80835	broad.mit.edu	37	chr1	6637105	6637105	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgagtgtgtgccctgtggGgctgggaccttcctcaacaa	13	10	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:6637105G>A	uc001ant.2	+	5	1569	c.1569G>A	c.(1567-1569)GGG>GGA	p.G523G	TAS1R1_uc001anu.2_Silent_p.G269G|TAS1R1_uc001anv.2_Silent_p.G269G|TAS1R1_uc001anw.2_Intron|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	523	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)		TGCCCTGTGGGGCTGGGACCT	0.612													A	6637105	G	A	6637105	2	1	11	1	0	0	0	0	0	0	0	1	15559	1219	43	4		4	TAS1R1	1	6637105	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	696863	6637105	242613516	4	8843											
KLHL21	9903	broad.mit.edu	37	chr1	6659418	6659418	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaggagctgtggtactcGcgggccttcagcatgggcgc	16	11	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:6659418G>A	uc001aoa.2	-	2	1168	c.1116C>T	c.(1114-1116)CGC>CGT	p.R372R	KLHL21_uc001anz.1_Silent_p.R372R|KLHL21_uc009vme.2_Silent_p.R5R	NM_014851	NP_055666	Q9UJP4	KLH21_HUMAN	kelch-like 21	372	Kelch 2.				anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)	1	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		TGTGGTACTCGCGGGCCTTCA	0.647													A	6659418	G	A	6659418	2	1	11	1	0	0	0	0	0	0	0	1	8376	1074	38	1		1	KLHL21	1	6659418	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	22313	6659418	242591203	5	8844											
TNFRSF9	3604	broad.mit.edu	37	chr1	7998254	7998254	+	Splice_Site	DEL	T	T	-													caaagaaacgcaaacgtaccTttttttgtcagttcttgacc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:7998253_7998253CT>C	uc001aot.3	-	5	607	c.346_splice	c.e5+1	p.G116_splice		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	116					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.G116S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GCAAACGTACCTTTTTTTGTC	0.408													-	7998254	T	-	7998254	8	5	11	1	0	1	0	1	0	0	1	0	16297	1623	56	0	442	0	TNFRSF9	1	7998254	Splice_Site	DEL	T	TCGA-BR-4256-01A-01D-1126-08	1338836	7998254	241252367	6	8845											
MTHFR	4524	broad.mit.edu	37	chr1	11856376	11856376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagctgcgtgatgatgaaatCggctcccgcagacaccttct	10	12	1	4	rs150847674	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:11856376C>T	uc001atc.1	-	5	851	c.667G>A	c.(667-669)GAT>AAT	p.D223N	MTHFR_uc001atb.1_Missense_Mutation_p.D246N	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	223					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	ATGATGAAATCGGCTCCCGCA	0.552													T	11856376	C	T	11856376	3	4	11	1	0	0	0	0	1	0	0	0	9931	884	31	1	1335	1	MTHFR	1	11856376	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3858122	11856376	237394245	7	8846											
MFN2	9927	broad.mit.edu	37	chr1	12058853	12058853	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattgatgtcaccacagagcTggacagctggattgacaagt	11	8	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:12058853T>C	uc001atn.3	+	7	1079	c.626T>C	c.(625-627)CTG>CCG	p.L209P	MFN2_uc009vni.2_Missense_Mutation_p.L209P	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	209	Cytoplasmic (Potential).				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		ACCACAGAGCTGGACAGCTGG	0.522													C	12058853	T	C	12058853	3	2	11	1	0	0	0	0	1	0	0	0	9524	1580	55	3	644	3	MFN2	1	12058853	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	202477	12058853	237191768	8	8847											
VPS13D	55187	broad.mit.edu	37	chr1	12371978	12371978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaggtgctgggtccctaGccaggtatgcctttgattat	12	8	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:12371978G>A	uc001atv.2	+	29	7072	c.6931G>A	c.(6931-6933)GCC>ACC	p.A2311T	VPS13D_uc001atw.2_Missense_Mutation_p.A2311T|VPS13D_uc001atx.2_Missense_Mutation_p.A1499T|VPS13D_uc001aty.1_Missense_Mutation_p.A49T	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2311					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGGGTCCCTAGCCAGGTATGC	0.343													A	12371978	G	A	12371978	3	1	11	1	0	0	0	0	1	0	0	0	17189	971	34	2	7041	2	VPS13D	1	12371978	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	313125	12371978	236878643	9	8848											
AADACL3	126767	broad.mit.edu	37	chr1	12785289	12785289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggatgcatatggagtggatCcagcccgggttgtggtctgc	16	8	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:12785289C>T	uc009vnn.1	+	4	612	c.379C>T	c.(379-381)CCA>TCA	p.P127S	AADACL3_uc001aug.1_Missense_Mutation_p.P57S	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3 isoform 1	127							hydrolase activity				0	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGTGGATCCAGCCCGGGT	0.557													T	12785289	C	T	12785289	3	4	11	1	0	0	0	0	1	0	0	0	12	855	30	4	397	4	AADACL3	1	12785289	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	413311	12785289	236465332	10	8849											
PRAMEF10	343071	broad.mit.edu	37	chr1	12954532	12954532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaatgcacggccactggaCgctcacgtacaactcacgct	10	14	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:12954532C>T	uc001auo.2	-	3	824	c.751G>A	c.(751-753)GTC>ATC	p.V251I		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	PRAME family member 10	251											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCACTGGACGCTCACGTAC	0.458													T	12954532	C	T	12954532	3	4	11	1	0	0	0	0	1	0	0	0	12426	536	19	1	681	1	PRAMEF10	1	12954532	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	169243	12954532	236296089	11	8850											
PRDM2	7799	broad.mit.edu	37	chr1	14107072	14107072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagccagatcctgacctcGgtccgggctctggtttccct	10	16	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:14107072G>A	uc001avi.2	+	8	3638	c.2782G>A	c.(2782-2784)GGT>AGT	p.G928S	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.G928S|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.G727S|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	928						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TCCTGACCTCGGTCCGGGCTC	0.532													A	14107072	G	A	14107072	3	1	11	1	0	0	0	0	1	0	0	0	12458	1116	39	1	2808	1	PRDM2	1	14107072	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1152540	14107072	235143549	12	8851											
SLC25A34	284723	broad.mit.edu	37	chr1	16064618	16064618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccttggagaccatctggCggcagcaagggctcttgggg	17	10	2	1	rs139368754		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:16064618C>T	uc001axb.1	+	3	647	c.475C>T	c.(475-477)CGG>TGG	p.R159W	SLC25A34_uc009vok.1_5'Flank	NM_207348	NP_997231	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	159	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane					0		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCATCTGGCGGCAGCAAGG	0.682													T	16064618	C	T	16064618	3	4	11	1	0	0	0	0	1	0	0	0	14498	759	27	1	485	1	SLC25A34	1	16064618	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1957546	16064618	233186003	13	8852											
SPEN	23013	broad.mit.edu	37	chr1	16256110	16256110	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttagatgatcaaggaccagaGagagaagacgttaggaaaaa	12	4	1	5			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:16256110G>A	uc001axk.1	+	11	3579	c.3375G>A	c.(3373-3375)GAG>GAA	p.E1125E	SPEN_uc010obp.1_Silent_p.E1084E	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1125					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGGACCAGAGAGAGAAGACG	0.398													A	16256110	G	A	16256110	2	1	11	1	0	0	0	0	0	0	0	1	15037	933	33	4		4	SPEN	1	16256110	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	191492	16256110	232994511	14	8853											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17983158	17983158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagccccttccacctgctcGctggcctgcaggatgggacc	11	17	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:17983158G>A	uc001ban.2	+	25	2974	c.2815G>A	c.(2815-2817)GCT>ACT	p.A939T	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.A900T|ARHGEF10L_uc001bao.2_Missense_Mutation_p.A900T|ARHGEF10L_uc001bap.2_Missense_Mutation_p.A895T|ARHGEF10L_uc001baq.2_Missense_Mutation_p.A700T|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.A712T|ARHGEF10L_uc001bar.2_Missense_Mutation_p.A642T|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	939					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCACCTGCTCGCTGGCCTGCA	0.667													A	17983158	G	A	17983158	3	1	11	1	0	0	0	0	1	0	0	0	895	1087	38	1	2909	1	ARHGEF10L	1	17983158	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1727048	17983158	231267463	15	8854											
TAS1R2	80834	broad.mit.edu	37	chr1	19166209	19166209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtagcccaggctgatggCcaggaggttgagcacagtga	16	8	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:19166209C>T	uc001bba.1	-	6	2405	c.2404G>A	c.(2404-2406)GCC>ACC	p.A802T		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	802	Helical; Name=7; (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGGCTGATGGCCAGGAGGTTG	0.582													T	19166209	C	T	19166209	3	4	11	1	0	0	0	0	1	0	0	0	15560	739	26	2	119	2	TAS1R2	1	19166209	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1183051	19166209	230084412	16	8855											
UBR4	23352	broad.mit.edu	37	chr1	19433102	19433103	+	Frame_Shift_Ins	INS	-	-	G													gccccagtttgagatccaagINSggggaggtcctcttcccccg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:19433101_19433102A>AG	uc001bbi.3	-	82	12358_12359	c.12354_12355T>CT	c.(12352-12357)cccttgfs	p.P4118fs	UBR4_uc001bbg.3_5'Flank|UBR4_uc001bbh.3_5'Flank	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4118					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTGAGATCCAAGGGGGAGGTCC	0.554													G	19433103	-	G	19433102	7	5	11	1	0	1	1	0	0	0	0	0	16901	987	35	0	3293	0	UBR4	1	19433102	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	266893	19433102	229817519	17	8856											
UBR4	23352	broad.mit.edu	37	chr1	19439226	19439226	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttggtggaggatgtgtggcCacagcccaggacggataagg	17	8	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:19439226C>A	uc001bbi.2	-	78	11597	c.11593G>T	c.(11593-11595)GGC>TGC	p.G3865C	UBR4_uc001bbj.1_3'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3865					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GATGTGTGGCCACAGCCCAGG	0.592													A	19439226	C	A	19439226	3	1	11	1	0	0	0	0	1	0	0	0	16901	594	21	5	4074	5	UBR4	1	19439226	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	6124	19439226	229811395	18	8857											
TMCO4	255104	broad.mit.edu	37	chr1	20072102	20072102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccgtcagaggcagaaacGtgaactcttcaatggctccc	9	14	3	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:20072102G>A	uc001bcn.2	-	10	1042	c.800C>T	c.(799-801)ACG>ATG	p.T267M	TMCO4_uc001bcm.2_Intron|TMCO4_uc001bco.1_Missense_Mutation_p.T267M|TMCO4_uc001bcp.1_Intron|TMCO4_uc009vpn.1_Missense_Mutation_p.T267M|TMCO4_uc001bcq.1_Missense_Mutation_p.T267M	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	267						integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AGGCAGAAACGTGAACTCTTC	0.572													A	20072102	G	A	20072102	3	1	11	1	0	0	0	0	1	0	0	0	15995	1145	40	1	1132	1	TMCO4	1	20072102	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	632876	20072102	229178519	19	8858											
HP1BP3	50809	broad.mit.edu	37	chr1	21091980	21091980	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggccagtgggaggacatcCtccaattttacttgtggttc	11	9	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:21091980C>A	uc001bdw.1	-	8	920	c.780G>T	c.(778-780)GAG>GAT	p.E260D	HP1BP3_uc001bdv.1_Missense_Mutation_p.E222D|HP1BP3_uc010odh.1_Missense_Mutation_p.E222D|HP1BP3_uc001bdy.1_Missense_Mutation_p.E260D|HP1BP3_uc001bdz.2_RNA|HP1BP3_uc001bea.2_Missense_Mutation_p.E259D|HP1BP3_uc010odf.1_Translation_Start_Site|HP1BP3_uc010odg.1_Missense_Mutation_p.E108D	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	HP1-BP74	260	H15 2.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|skin(1)	2		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GGAGGACATCCTCCAATTTTA	0.378													A	21091980	C	A	21091980	3	1	11	1	0	0	0	0	1	0	0	0	7328	680	24	5	905	5	HP1BP3	1	21091980	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1019878	21091980	228158641	20	8859											
HSPG2	3339	broad.mit.edu	37	chr1	22150185	22150185	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgaccagctcctcaccgtcGacttggatggaacctctgcg	10	15	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:22150185G>A	uc001bfj.2	-	96	12967	c.12927C>T	c.(12925-12927)GTC>GTT	p.V4309V	LDLRAD2_uc001bfg.1_3'UTR|HSPG2_uc001bfi.2_Silent_p.V326V|HSPG2_uc009vqd.2_Silent_p.V4310V	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	4309	Laminin G-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCTCACCGTCGACTTGGATGG	0.647													A	22150185	G	A	22150185	2	1	11	1	0	0	0	0	0	0	0	1	7430	1045	37	1		1	HSPG2	1	22150185	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1058205	22150185	227100436	21	8860											
HSPG2	3339	broad.mit.edu	37	chr1	22178102	22178102	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgggcatgggactgcccGggcaccacgcagttcagatc	13	14	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:22178102G>A	uc001bfj.2	-	55	7135	c.7095C>T	c.(7093-7095)CCC>CCT	p.P2365P	HSPG2_uc009vqd.2_Silent_p.P2366P	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2365	Ig-like C2-type 9.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGACTGCCCGGGCACCACGC	0.657													A	22178102	G	A	22178102	2	1	11	1	0	0	0	0	0	0	0	1	7430	1103	39	1		1	HSPG2	1	22178102	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	27917	22178102	227072519	22	8861											
EPHB2	2048	broad.mit.edu	37	chr1	23191603	23191603	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatcagtgacctgctggccCacacccagtacaccttcgag	8	16	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:23191603C>A	uc009vqj.1	+	5	1346	c.1201C>A	c.(1201-1203)CAC>AAC	p.H401N	EPHB2_uc001bge.2_Missense_Mutation_p.H401N|EPHB2_uc001bgf.2_Missense_Mutation_p.H401N|EPHB2_uc010odu.1_Missense_Mutation_p.H401N|hsa-mir-4253|MI0015860_5'Flank	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	401	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCTGCTGGCCCACACCCAGTA	0.622									Hereditary_Prostate_Cancer				A	23191603	C	A	23191603	3	1	11	1	0	0	0	0	1	0	0	0	5175	594	21	5	1219	5	EPHB2	1	23191603	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1013501	23191603	226059018	23	8862											
IL22RA1	58985	broad.mit.edu	37	chr1	24447502	24447502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagggagggacatggggtgGccctcgatctggactgagga	18	7	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:24447502G>A	uc001biq.1	-	7	1557	c.1518C>T	c.(1516-1518)GGC>GGT	p.G506G	IL22RA1_uc010oeg.1_Silent_p.G438G|IL22RA1_uc009vrb.1_Silent_p.G370G|IL22RA1_uc010oeh.1_3'UTR	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1 precursor	506	Cytoplasmic (Potential).					integral to membrane	interferon receptor activity			skin(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		ACATGGGGTGGCCCTCGATCT	0.602													A	24447502	G	A	24447502	2	1	11	1	0	0	0	0	0	0	0	1	7673	1190	42	2		2	IL22RA1	1	24447502	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1255899	24447502	224803119	24	8863											
STMN1	3925	broad.mit.edu	37	chr1	26230136	26230136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattgcttcgtttaccttgCgtctttcttctgcagcttct	7	11	4	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:26230136C>T	uc001bkz.2	-	3	546	c.182G>A	c.(181-183)CGC>CAC	p.R61H	STMN1_uc010oev.1_Missense_Mutation_p.R61H|STMN1_uc001bla.2_Missense_Mutation_p.R61H|STMN1_uc001blb.2_Missense_Mutation_p.R61H|STMN1_uc001blc.2_Missense_Mutation_p.R61H	NM_203401	NP_981946	P16949	STMN1_HUMAN	stathmin 1 isoform a	61	Potential.				cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus	cytoplasm|microtubule	signal transducer activity|tubulin binding				0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTACCTTGCGTCTTTCTTC	0.373													T	26230136	C	T	26230136	3	4	11	1	0	0	0	0	1	0	0	0	15307	768	27	1	430	1	STMN1	1	26230136	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1782634	26230136	223020485	25	8864											
PAFAH2	5051	broad.mit.edu	37	chr1	26303254	26303254	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacagccacacggctcatgTcaatgttgccctgaggaaag	10	12	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:26303254T>C	uc001bld.3	-	8	857	c.677A>G	c.(676-678)GAC>GGC	p.D226G	PAFAH2_uc001ble.3_Missense_Mutation_p.D226G	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2	226					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			ovary(2)	2		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		ACGGCTCATGTCAATGTTGCC	0.483													C	26303254	T	C	26303254	3	2	11	1	0	0	0	0	1	0	0	0	11387	1667	58	3	517	3	PAFAH2	1	26303254	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	73118	26303254	222947367	26	8865											
ARID1A	8289	broad.mit.edu	37	chr1	27100176	27100176	+	Frame_Shift_Del	DEL	C	C	-													atgtattctcctagccgctaCcccccgcagcagcagcagca							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:27100175_27100175AC>A	uc001bmv.1	+	15	4344	c.3971_3971AC>A	c.(3970-3972)tacfs	p.Y1324fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.Y1323fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Y1324fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Y941fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.Y170fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1324					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Y1324fs*1(2)|p.Y1324*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTAGCCGCTACCCCCCgcag	0.602			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27100176	C	-	27100176	7	5	11	1	0	1	0	1	0	0	0	0	913	518	18	0	4034	0	ARID1A	1	27100176	Frame_Shift_Del	DEL	C	TCGA-BR-4256-01A-01D-1126-08	796922	27100176	222150445	27	8866											
ARID1A	8289	broad.mit.edu	37	chr1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-													tgctgcactggcggattggtGggggggacaccactgagcat							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACA	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27105931	G	-	27105931	7	5	11	1	0	1	0	1	0	0	0	0	913	1348	47	0	5620	0	ARID1A	1	27105931	Frame_Shift_Del	DEL	G	TCGA-BR-4256-01A-01D-1126-08	5755	27105931	222144690	28	8867											
GPATCH3	63906	broad.mit.edu	37	chr1	27224070	27224070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcaactccaaaaagacccGcaggggagtccccacattcc	8	15	1	1	rs144011521	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:27224070G>A	uc001bne.2	-	2	627	c.598C>T	c.(598-600)CGG>TGG	p.R200W	GPATCH3_uc009vsp.1_Missense_Mutation_p.R11W	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	G patch domain containing 3	200						intracellular	nucleic acid binding				0		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		AAAAAGACCCGCAGGGGAGTC	0.622													A	27224070	G	A	27224070	3	1	11	1	0	0	0	0	1	0	0	0	6592	1086	38	1	1003	1	GPATCH3	1	27224070	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	118139	27224070	222026551	29	8868											
PPP1R8	5511	broad.mit.edu	37	chr1	28176658	28176658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggaatcagggagcaggCgcatgcagaactttgccttc	14	9	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:28176658C>T	uc001bov.1	+	7	811	c.757C>T	c.(757-759)CGC>TGC	p.R253C	PPP1R8_uc001bow.1_Missense_Mutation_p.R111C|PPP1R8_uc001box.1_Missense_Mutation_p.R29C|PPP1R8_uc009vtc.1_RNA|PPP1R8_uc009vtd.1_RNA	NM_014110	NP_054829	Q12972	PP1R8_HUMAN	protein phosphatase 1 regulatory inhibitor	253					mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding				0		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGAGCAGGCGCATGCAGAA	0.607													T	28176658	C	T	28176658	3	4	11	1	0	0	0	0	1	0	0	0	12377	768	27	1	783	1	PPP1R8	1	28176658	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	952588	28176658	221073963	30	8869											
TSSK3	81629	broad.mit.edu	37	chr1	32829237	32829237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgggagctccaaatcgtcCgtaccctggaccacaagaac	9	15	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:32829237C>T	uc001bvf.2	+	2	628	c.187C>T	c.(187-189)CGT>TGT	p.R63C	uc001bve.1_5'Flank	NM_052841	NP_443073	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	63	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R63G(1)		stomach(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				CCAAATCGTCCGTACCCTGGA	0.557													T	32829237	C	T	32829237	3	4	11	1	0	0	0	0	1	0	0	0	16667	652	23	1	193	1	TSSK3	1	32829237	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	4652579	32829237	216421384	31	8870											
PHC2	1912	broad.mit.edu	37	chr1	33836036	33836036	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actcaccatctgtgccctcaGatacatctgtgcttggcttg	8	13	4	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:33836036G>A	uc001bxg.1	-	4	616	c.562C>T	c.(562-564)CTG>TTG	p.L188L	PHC2_uc001bxh.1_Silent_p.L188L|PHC2_uc009vuh.1_Silent_p.L188L|PHC2_uc001bxi.1_Silent_p.L188L	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	polyhomeotic-like 2 isoform a	188					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGTGCCCTCAGATACATCTGT	0.607													A	33836036	G	A	33836036	2	1	11	1	0	0	0	0	0	0	0	1	11817	933	33	4		4	PHC2	1	33836036	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1006799	33836036	215414585	32	8871											
ZMYM6	9204	broad.mit.edu	37	chr1	35496158	35496158	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgcttacttgagcattgTctggttcttctttaattttg	7	6	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:35496158T>C	uc001byh.2	-	2	311	c.83A>G	c.(82-84)GAC>GGC	p.D28G	ZMYM6_uc001byf.1_Missense_Mutation_p.D28G|ZMYM6_uc010oht.1_Intron|ZMYM6_uc009vup.2_Intron|ZMYM6_uc009vuq.1_Missense_Mutation_p.D28G|ZMYM6_uc009vur.1_5'UTR|ZMYM6_uc001byj.2_Missense_Mutation_p.D28G|ZMYM6_uc001byi.2_Missense_Mutation_p.D28G|ZMYM6_uc001byk.2_Missense_Mutation_p.D28G	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	28					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTGAGCATTGTCTGGTTCTTC	0.343													C	35496158	T	C	35496158	3	2	11	1	0	0	0	0	1	0	0	0	17701	1667	58	3	3954	3	ZMYM6	1	35496158	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	1660122	35496158	213754463	33	8872											
MAP7D1	55700	broad.mit.edu	37	chr1	36636764	36636765	+	Frame_Shift_Ins	INS	-	-	C													caggtcgggcctaggccagcINSccccccgcaggaagagtccc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:36636763_36636764G>GC	uc001bzz.3	+	1	454_455	c.238_239G>GC	c.(238-240)gccfs	p.A80fs	MAP7D1_uc001caa.3_Frame_Shift_Ins_p.A80fs|MAP7D1_uc001cab.3_Frame_Shift_Ins_p.A80fs|MAP7D1_uc001cac.3_5'Flank	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.	80	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCCTAGGCCAGCCCCCCCGCAG	0.653													C	36636765	-	C	36636764	7	5	11	1	0	1	1	0	0	0	0	0	9267	739	26	0	245	0	MAP7D1	1	36636764	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	1140606	36636764	212613857	34	8873											
MAP7D1	55700	broad.mit.edu	37	chr1	36638990	36638990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgaagcagccatccaacGgtcagtgaagaagacgtggg	13	9	1	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:36638990G>A	uc001bzz.2	+	5	866	c.650G>A	c.(649-651)CGG>CAG	p.R217Q	MAP7D1_uc001caa.2_Missense_Mutation_p.R217Q|MAP7D1_uc001cab.2_Missense_Mutation_p.R217Q|MAP7D1_uc001cac.2_5'UTR	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	217	Potential.					cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)				GCCATCCAACGGTCAGTGAAG	0.577													A	36638990	G	A	36638990	3	1	11	1	0	0	0	0	1	0	0	0	9267	1116	39	1	668	1	MAP7D1	1	36638990	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2226	36638990	212611631	35	8874											
MACF1	23499	broad.mit.edu	37	chr1	39747967	39747967	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagaaggtgacagctggtTacacaggaatcaaatgcacc	10	11	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:39747967T>C	uc010ois.1	+	8	836	c.631T>C	c.(631-633)TAC>CAC	p.Y211H	MACF1_uc001cda.1_Missense_Mutation_p.Y119H|MACF1_uc010oit.1_Missense_Mutation_p.Y174H	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	211	Actin-binding.|CH 2.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACAGCTGGTTACACAGGAAT	0.463													C	39747967	T	C	39747967	3	2	11	1	0	0	0	0	1	0	0	0	9144	1754	61	3	653	3	MACF1	1	39747967	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	3108977	39747967	209502654	36	8875											
ZNF691	51058	broad.mit.edu	37	chr1	43317311	43317311	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agagaccttatgagtgcactGagtgtgggcggaccttcagc	14	9	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:43317311G>A	uc001cih.2	+	2	814	c.763G>A	c.(763-765)GAG>AAG	p.E255K	ZNF691_uc001cig.2_Missense_Mutation_p.E228K|ZNF691_uc009vwm.2_Missense_Mutation_p.E248K	NM_015911	NP_056995	Q5VV52	ZN691_HUMAN	zinc finger protein 691	259	C2H2-type 6.					nucleus	DNA binding|zinc ion binding			ovary(2)	2	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGAGTGCACTGAGTGTGGGCG	0.567													A	43317311	G	A	43317311	3	1	11	1	0	0	0	0	1	0	0	0	18093	1291	45	4	684	4	ZNF691	1	43317311	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3569344	43317311	205933310	37	8876											
DPH2	1802	broad.mit.edu	37	chr1	44435850	44435850	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacccaagctgtgcctcatGgagtcgatgtttagcagccc	10	14	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:44435850G>T	uc001ckz.2	+	1	198	c.3G>T	c.(1-3)ATG>ATT	p.M1I	DPH2_uc001cla.2_Missense_Mutation_p.M1I|DPH2_uc010okk.1_5'UTR|DPH2_uc001clb.2_5'UTR	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	diphthamide biosynthesis protein 2 isoform a	1					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TGTGCCTCATGGAGTCGATGT	0.647													T	44435850	G	T	44435850	3	4	11	1	0	0	0	0	1	0	0	0	4720	1348	47	5	5	5	DPH2	1	44435850	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1118539	44435850	204814771	38	8877											
PLK3	1263	broad.mit.edu	37	chr1	45267574	45267574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggattttgggctggcagCccggttggagcctccggagc	19	10	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:45267574C>T	uc001cmn.2	+	5	723	c.623C>T	c.(622-624)GCC>GTC	p.A208V	PLK3_uc001cmo.2_RNA	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	208	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity				0	Acute lymphoblastic leukemia(166;0.155)					GGGCTGGCAGCCCGGTTGGAG	0.468													T	45267574	C	T	45267574	3	4	11	1	0	0	0	0	1	0	0	0	12097	739	26	2	641	2	PLK3	1	45267574	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	831724	45267574	203983047	39	8878											
HECTD3	79654	broad.mit.edu	37	chr1	45474833	45474833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctcggcactccacgatgCggatctcgatgatcgggagg	13	13	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:45474833C>T	uc009vxk.2	-	7	1153	c.1055G>A	c.(1054-1056)CGC>CAC	p.R352H	HECTD3_uc001cmy.3_5'Flank|HECTD3_uc010olh.1_Missense_Mutation_p.R68H|UROD_uc010oli.1_5'Flank|UROD_uc001cna.1_5'Flank|UROD_uc001cnb.1_5'Flank	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	352	DOC.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)					CTCCACGATGCGGATCTCGAT	0.562													T	45474833	C	T	45474833	3	4	11	1	0	0	0	0	1	0	0	0	7041	768	27	1	1590	1	HECTD3	1	45474833	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	207259	45474833	203775788	40	8879											
PIK3R3	8503	broad.mit.edu	37	chr1	46521525	46521525	+	Frame_Shift_Del	DEL	T	T	-													gtcaggtttgatgctattcaTttttttatctatttctcggt							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:46521524_46521524AT>A	uc010olw.2	-	6	1039	c.1022_1022AT>T	c.(1021-1023)atgfs	p.M341fs	PIK3R3_uc001cpb.4_Frame_Shift_Del_p.M295fs|PIK3R3_uc009vyb.3_Intron|PIK3R3_uc009vyc.3_Frame_Shift_Del_p.M312fs|PIK3R3_uc001cpc.4_Frame_Shift_Del_p.M295fs|PIK3R3_uc010olv.2_Frame_Shift_Del_p.M85fs	NM_003629	NP_003620	Q92569	P55G_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 3 (gamma) (PIK3R3), transcript variant 1, mRNA.	295					T cell costimulation|insulin receptor signaling pathway|platelet activation		1-phosphatidylinositol-3-kinase activity|protein binding	p.M295T(2)		endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					GATGCTATTCATTTTTTTATC	0.428													-	46521525	T	-	46521525	7	5	11	1	0	1	0	1	0	0	0	0	11920	1493	52	0	518	0	PIK3R3	1	46521525	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	1046692	46521525	202729096	41	8880											
FAAH	2166	broad.mit.edu	37	chr1	46871336	46871336	+	Frame_Shift_Del	DEL	G	G	-													aaagcccagggggctcctcaGggggtgaaggggccctcatc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:46871335_46871335AG>A	uc001cpu.2	+	4	736	c.654_654AG>A	c.(652-654)tcafs	p.S218fs	FAAH_uc001cpv.2_Non-coding_Transcript	NM_001441	NP_001432	O00519	FAAH1_HUMAN	Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	218					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	p.S218S(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GGGGCTCCTCAGGGGGTGAAG	0.622													-	46871336	G	-	46871336	7	5	11	1	0	1	0	1	0	0	0	0	5353	1000	35	0	673	0	FAAH	1	46871336	Frame_Shift_Del	DEL	G	TCGA-BR-4256-01A-01D-1126-08	349811	46871336	202379285	42	8881											
ZCCHC11	23318	broad.mit.edu	37	chr1	52891135	52891135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaaatggggacgcggtgCatgttcccaaggaattggag	18	6	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:52891135C>T	uc001ctx.2	-	29	4987	c.4753G>A	c.(4753-4755)GCA>ACA	p.A1585T	ZCCHC11_uc001cty.2_Missense_Mutation_p.A1586T|ZCCHC11_uc001ctz.2_Missense_Mutation_p.A1581T	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	1585	Pro-rich.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						GGACGCGGTGCATGTTCCCAA	0.468													T	52891135	C	T	52891135	3	4	11	1	0	0	0	0	1	0	0	0	17577	710	25	2	189	2	ZCCHC11	1	52891135	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	6019799	52891135	196359486	43	8882											
C1orf177	163747	broad.mit.edu	37	chr1	55282678	55282678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaacccagtaggtgtggGccgctacctcaacacctggc	12	14	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:55282678G>A	uc001cyb.3	+	9	1121	c.1067G>A	c.(1066-1068)GGC>GAC	p.G356D	C1orf177_uc001cya.3_Missense_Mutation_p.G356D	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	hypothetical protein LOC163747 isoform 2	356											0						GTAGGTGTGGGCCGCTACCTC	0.577													A	55282678	G	A	55282678	3	1	11	1	0	0	0	0	1	0	0	0	2017	1203	42	2	1101	2	C1orf177	1	55282678	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2391543	55282678	193967943	44	8883											
C8A	731	broad.mit.edu	37	chr1	57340695	57340695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgacatctgggatcaagCcagctgctccagttctacaa	10	11	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:57340695C>T	uc001cyo.2	+	3	377	c.245C>T	c.(244-246)GCC>GTC	p.A82V		NM_000562	NP_000553	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	82	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				ovary(1)|central_nervous_system(1)|skin(1)	3						TGGGATCAAGCCAGCTGCTCC	0.483													T	57340695	C	T	57340695	3	4	11	1	0	0	0	0	1	0	0	0	2416	739	26	2	255	2	C8A	1	57340695	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2058017	57340695	191909926	45	8884											
CYP2J2	1573	broad.mit.edu	37	chr1	60381679	60381679	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagttttggtccatgtggaTaagggcttctttgattaagg	12	4	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:60381679T>C	uc001czq.2	-	2	309	c.304A>G	c.(304-306)ATC>GTC	p.I102V		NM_000775	NP_000766	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J,	102					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			ovary(1)	1	all_cancers(7;0.000396)					TCCATGTGGATAAGGGCTTCT	0.423													C	60381679	T	C	60381679	3	2	11	1	0	0	0	0	1	0	0	0	4172	1406	49	3	1236	3	CYP2J2	1	60381679	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	3040984	60381679	188868942	46	8885											
DNAJC6	9829	broad.mit.edu	37	chr1	65874367	65874367	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgaagacctactctctggTcaaggtttcaatgctcacaa	7	10	4	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:65874367T>C	uc001dcd.1	+	17	2528	c.2364T>C	c.(2362-2364)GGT>GGC	p.G788G	DNAJC6_uc010opc.1_Silent_p.G775G|DNAJC6_uc001dce.1_Silent_p.G845G	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	788					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						TACTCTCTGGTCAAGGTTTCA	0.373													C	65874367	T	C	65874367	2	2	11	1	0	0	0	0	0	0	0	1	4653	1654	58	3		3	DNAJC6	1	65874367	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	5492688	65874367	183376254	47	8886											
WLS	79971	broad.mit.edu	37	chr1	68603558	68603558	+	Frame_Shift_Del	DEL	A	A	-													acatcccatagatgcctgtgAaaaaggcactgttcacttgg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:68603557_68603557GA>G	uc001dee.3	-	10	1718	c.1416_1416TC>C	c.(1414-1416)ttcfs	p.F472fs	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|WLS_uc001def.2_Frame_Shift_Del_p.F474fs|WLS_uc001deg.2_Frame_Shift_Del_p.F383fs|WLS_uc009wbf.1_Frame_Shift_Del_p.F429fs	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	Homo sapiens wntless homolog (Drosophila) (WLS), transcript variant 2, mRNA.	474					Wnt receptor signaling pathway|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of canonical Wnt receptor signaling pathway	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						AGATGCCTGTGAAAAAGGCAC	0.458													-	68603558	A	-	68603558	7	5	11	1	0	1	0	1	0	0	0	0	17373	246	9	0	338	0	WLS	1	68603558	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	2729191	68603558	180647063	48	8887											
LRRC7	57554	broad.mit.edu	37	chr1	70504797	70504797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaacacaatcccgagtacgTgcaacaggccagcaaaaaca	7	13	1	0	rs139023629		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:70504797T>C	uc001dep.2	+	19	3206	c.3176T>C	c.(3175-3177)GTG>GCG	p.V1059A	LRRC7_uc009wbg.2_Missense_Mutation_p.V343A|LRRC7_uc001deq.2_Missense_Mutation_p.V300A	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1059						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						CCCGAGTACGTGCAACAGGCC	0.448													C	70504797	T	C	70504797	3	2	11	1	0	0	0	0	1	0	0	0	9020	1696	59	3	3250	3	LRRC7	1	70504797	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	1901239	70504797	178745824	49	8888											
C1orf173	127254	broad.mit.edu	37	chr1	75097397	75097397	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatttgttccataatcacCtttgtcaaaagaggttctaa	5	7	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:75097397C>T	uc001dgg.2	-	7	1038	c.819G>A	c.(817-819)AAG>AAA	p.K273K	C1orf173_uc001dgi.3_Silent_p.K67K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	273										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						CCATAATCACCTTTGTCAAAA	0.338													T	75097397	C	T	75097397	2	4	11	1	0	0	0	0	0	0	0	1	2014	695	24	4		4	C1orf173	1	75097397	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	4592600	75097397	174153224	50	8889											
DNAJB4	11080	broad.mit.edu	37	chr1	78478866	78478866	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaaattttctttggaagaCgaatgggtggtggtagagat	14	2	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:78478866C>T	uc001dij.2	+	2	502	c.343C>T	c.(343-345)CGA>TGA	p.R115*	DNAJB4_uc010orn.1_Translation_Start_Site	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	115					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding				0						CTTTGGAAGACGAATGGGTGG	0.438													T	78478866	C	T	78478866	4	4	11	1	0	0	0	0	0	1	0	0	4622	528	19	1	349	1	DNAJB4	1	78478866	Nonsense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3381469	78478866	170771755	51	8890											
ABCA4	24	broad.mit.edu	37	chr1	94578618	94578618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgagttccaccacaaagCgaatctggaaaaacaaaaca	6	11	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:94578618C>T	uc001dqh.2	-	2	175	c.71G>A	c.(70-72)CGC>CAC	p.R24H	ABCA4_uc010otn.1_Missense_Mutation_p.R24H	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	24	Helical; (Potential).		R -> H (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CACCACAAAGCGAATCTGGAA	0.428													T	94578618	C	T	94578618	3	4	11	1	0	0	0	0	1	0	0	0	34	768	27	1	6946	1	ABCA4	1	94578618	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	16099752	94578618	154672003	52	8891											
LPPR4	9890	broad.mit.edu	37	chr1	99771300	99771300	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtatgtttcagcacagagaCgccctcaggtctctgacaga	10	11	3	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:99771300C>T	uc001dse.2	+	7	1132	c.1026C>T	c.(1024-1026)GAC>GAT	p.D342D	LPPR4_uc010oue.1_Silent_p.D284D	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	342							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGCACAGAGACGCCCTCAGGT	0.453													T	99771300	C	T	99771300	2	4	11	1	0	0	0	0	0	0	0	1	8927	535	19	1		1	LPPR4	1	99771300	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	5192682	99771300	149479321	53	8892											
HIAT1	64645	broad.mit.edu	37	chr1	100534034	100534034	+	Frame_Shift_Del	DEL	A	A	-													tttttcttgttctagtccttAaaaaaagtcggccaagattc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:100534033_100534033TA>T	uc001dst.3	+	6	710	c.710_710TA>T	c.(709-711)ttafs	p.L237fs		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	Homo sapiens hippocampus abundant transcript 1 (HIAT1), mRNA.	237					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTCTAGTCCTTAAAAAAAGTC	0.388													-	100534034	A	-	100534034	7	5	11	1	0	1	0	1	0	0	0	0	7097	359	13	0	737	0	HIAT1	1	100534034	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	762734	100534034	148716587	54	8893											
NTNG1	22854	broad.mit.edu	37	chr1	107937876	107937878	+	In_Frame_Del	DEL	AAG	AAG	-													gtccagactgtgggaaatgcAagaagaattatcagggccga							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:107937875_107937877CAAG>C	uc001dvh.4	+	3	1705_1707	c.987_989CAAG>C	c.(985-990)tgcaag>tgCg	p.K331del	NTNG1_uc001dvc.4_In_Frame_Del_p.K331del|NTNG1_uc010out.2_In_Frame_Del_p.K331del|NTNG1_uc001dvf.4_In_Frame_Del_p.K331del|NTNG1_uc001dvi.3_5'UTR|NTNG1_uc001dve.3_Non-coding_Transcript|NTNG1_uc009wek.3_Non-coding_Transcript|NTNG1_uc001dvg.3_Non-coding_Transcript|NTNG1_uc009wem.3_In_Frame_Del_p.Q2del|NTNG1_uc001dvd.1_In_Frame_Del_p.K331del	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	331	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GTGGGAAATGCAAGAAGAATTAT	0.473													-	107937878	AAG	-	107937876	7	5	11	1	0	1	0	1	0	0	0	0	10704	131	5	0	998	0	NTNG1	1	107937876	In_Frame_Del	DEL	AAG	TCGA-BR-4256-01A-01D-1126-08	7403842	107937876	141312745	55	8894											
AKNAD1	254268	broad.mit.edu	37	chr1	109369927	109369927	+	Splice_Site	DEL	A	A	-													ttctccacgttttgcttcctAaaaaaaggtgcataagatcc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:109369926_109369926TA>T	uc001dwa.3	-	11	2108	c.1839_splice	c.e11-1	p.W613_splice	AKNAD1_uc010ovb.2_Splice_Site_p.W320_splice|AKNAD1_uc001dwb.3_Splice_Site	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	613										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTTGCTTCCTAAAAAAAGGT	0.378													-	109369927	A	-	109369927	8	5	11	1	0	1	0	1	0	0	1	0	464	377	13	0		0	AKNAD1	1	109369927	Splice_Site	DEL	A	TCGA-BR-4256-01A-01D-1126-08	1432051	109369927	139880694	56	8895											
WDR47	22911	broad.mit.edu	37	chr1	109538449	109538449	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatatttaattcaccaagctTttgaatggacctataaaatt	4	6	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:109538449T>C	uc001dwj.2	-	8	1820	c.1444A>G	c.(1444-1446)AAG>GAG	p.K482E	WDR47_uc001dwl.2_Missense_Mutation_p.K490E|WDR47_uc001dwi.2_Missense_Mutation_p.K483E|WDR47_uc001dwk.2_Missense_Mutation_p.K454E|WDR47_uc010ovf.1_Missense_Mutation_p.K409E	NM_001142551	NP_001136023	O94967	WDR47_HUMAN	WD repeat domain 47 isoform 3	482										ovary(1)	1		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TCACCAAGCTTTTGAATGGAC	0.313													C	109538449	T	C	109538449	3	2	11	1	0	0	0	0	1	0	0	0	17297	1850	64	3	1347	3	WDR47	1	109538449	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	168522	109538449	139712172	57	8896											
KCNA3	3738	broad.mit.edu	37	chr1	111216731	111216731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggacacgatggcgatgcccCgggccggcccggagctctcg	16	16	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:111216731C>T	uc001dzv.1	-	1	925	c.701G>A	c.(700-702)CGG>CAG	p.R234Q		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	234						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCGATGCCCCGGGCCGGCCC	0.682													T	111216731	C	T	111216731	3	4	11	1	0	0	0	0	1	0	0	0	8004	652	23	1	1030	1	KCNA3	1	111216731	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1678282	111216731	138033890	58	8897											
C1orf88	128344	broad.mit.edu	37	chr1	111891167	111891167	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctcatgcaggcaggtaccaGaaagtaagtcctcagcagga	11	11	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:111891167G>T	uc001eaw.2	+	4	368	c.288G>T	c.(286-288)CAG>CAT	p.Q96H	C1orf88_uc001eax.2_Missense_Mutation_p.Q63H|C1orf88_uc009wge.1_Intron|C1orf88_uc001eay.2_Missense_Mutation_p.Q9H	NM_181643	NP_857594	Q8TCI5	CA088_HUMAN	hypothetical protein LOC128344	96										ovary(1)|skin(1)	2		all_cancers(81;3.21e-05)|all_epithelial(167;1.19e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|Colorectal(144;0.0301)|all cancers(265;0.0677)|Epithelial(280;0.0897)|COAD - Colon adenocarcinoma(174;0.116)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCAGGTACCAGAAAGTAAGTC	0.378													T	111891167	G	T	111891167	3	4	11	1	0	0	0	0	1	0	0	0	2065	933	33	5	302	5	C1orf88	1	111891167	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	674436	111891167	137359454	59	8898											
DENND2C	163259	broad.mit.edu	37	chr1	115079372	115079372	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcatctgatgtccatgaaGttagggaggccctgggagag	16	7	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:115079372G>T	uc001eez.2	-	29		c.4271C>A				NM_198459		Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C											skin(3)	3	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTCCATGAAGTTAGGGAGGC	0.498													T	115079372	G	T	115079372	1	4	11	0	1	0	0	0	0	0	0	0	4430	1044	36	5		5	DENND2C	1	115079372	RNA	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3188205	115079372	134171249	60	8899											
IGSF3	3321	broad.mit.edu	37	chr1	117127667	117127667	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcttggctgagcctcagGcggctgtctggaacagtaag	16	9	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:117127667G>A	uc001egr.1	-	9	3153	c.2448C>T	c.(2446-2448)CGC>CGT	p.R816R	IGSF3_uc001egq.1_Silent_p.R836R|IGSF3_uc001egs.1_Silent_p.R489R	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	816	Ig-like C2-type 7.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TGAGCCTCAGGCGGCTGTCTG	0.567													A	117127667	G	A	117127667	2	1	11	1	0	0	0	0	0	0	0	1	7601	1190	42	2		2	IGSF3	1	117127667	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2048295	117127667	132122954	61	8900											
PDE4DIP	9659	broad.mit.edu	37	chr1	145015901	145015901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtctgtacctgaggggGtttctcaaatgctctcaagg	13	9	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:145015901G>A	uc001elx.3	-	3	522	c.187C>T	c.(187-189)CCC>TCC	p.P63S	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elm.3_5'UTR|PDE4DIP_uc001eln.3_Missense_Mutation_p.P63S|PDE4DIP_uc001elo.2_Missense_Mutation_p.P134S|PDE4DIP_uc001emh.2_Missense_Mutation_p.P134S|uc001emj.2_Intron	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	Error:Variant_position_missing_in_Q5VU43_after_alignment					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACCTGAGGGGGTTTCTCAAAT	0.458			T	PDGFRB	MPD								A	145015901	G	A	145015901	3	1	11	1	0	0	0	0	1	0	0	0	11643	1261	44	4	8404	4	PDE4DIP	1	145015901	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	27888234	145015901	104234720	62	8901											
C1orf56	54964	broad.mit.edu	37	chr1	151020433	151020433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgaaatgcagcgggtcaGtttacgctttgggggcccca	14	11	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:151020433G>A	uc001ewn.2	+	1	175	c.110G>A	c.(109-111)AGT>AAT	p.S37N		NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	hypothetical protein LOC54964 precursor	37						extracellular region					0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGCGGGTCAGTTTACGCTTT	0.667													A	151020433	G	A	151020433	3	1	11	1	0	0	0	0	1	0	0	0	2048	1029	36	4	112	4	C1orf56	1	151020433	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	6004532	151020433	98230188	63	8902											
C1orf56	54964	broad.mit.edu	37	chr1	151021230	151021230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtcccagcctgccacccGccagcccctgcccagccctg	9	23	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:151021230G>A	uc001ewn.2	+	1	972	c.907G>A	c.(907-909)GCC>ACC	p.A303T		NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	hypothetical protein LOC54964 precursor	303						extracellular region					0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTGCCACCCGCCAGCCCCTG	0.577											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	151021230	G	A	151021230	3	1	11	1	0	0	0	0	1	0	0	0	2048	1087	38	1	909	1	C1orf56	1	151021230	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	797	151021230	98229391	64	8903											
TCHH	7062	broad.mit.edu	37	chr1	152081442	152081442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagctgctgttcctcctcGcggaattttctgtcgcggtc	10	14	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:152081442G>A	uc001ezp.2	-	2	4251	c.4251C>T	c.(4249-4251)CGC>CGT	p.R1417R	TCHH_uc009wne.1_Silent_p.R1417R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1417	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTCCTCCTCGCGGAATTTTC	0.587													A	152081442	G	A	152081442	2	1	11	1	0	0	0	0	0	0	0	1	15697	1074	38	1		1	TCHH	1	152081442	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1060212	152081442	97169179	65	8904											
HRNR	388697	broad.mit.edu	37	chr1	152188317	152188317	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggcccaaagactgacgggAgccagacccatgctgaccat	12	13	0	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:152188317A>C	uc001ezt.1	-	3	5864	c.5788T>G	c.(5788-5790)TCC>GCC	p.S1930A		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1930	21.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGACGGGAGCCAGACCCA	0.577													C	152188317	A	C	152188317	3	2	11	1	0	0	0	0	1	0	0	0	7359	304	11	5	2768	5	HRNR	1	152188317	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	106875	152188317	97062304	66	8905											
FLG	2312	broad.mit.edu	37	chr1	152282336	152282336	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatgtctttctcctggacTtgaccttgcctgttcctggg	9	13	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:152282336T>C	uc001ezu.1	-	3	5062	c.5026A>G	c.(5026-5028)AGT>GGT	p.S1676G		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1676	Ser-rich.|Filaggrin 10.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCCTGGACTTGACCTTGCC	0.562									Ichthyosis				C	152282336	T	C	152282336	3	2	11	1	0	0	0	0	1	0	0	0	5922	1609	56	3	7163	3	FLG	1	152282336	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	94019	152282336	96968285	67	8906											
FLG2	388698	broad.mit.edu	37	chr1	152326950	152326950	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacctgagcctggcctgtgTtgtccaaatccagatgtctg	11	11	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:152326950T>C	uc001ezw.3	-	3	3385	c.3312A>G	c.(3310-3312)CAA>CAG	p.Q1104Q	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1104	Ser-rich.|Filaggrin 4.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCCTGTGTTGTCCAAATC	0.507													C	152326950	T	C	152326950	2	2	11	1	0	0	0	0	0	0	0	1	5923	1722	60	3		3	FLG2	1	152326950	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	44614	152326950	96923671	68	8907											
NPR1	4881	broad.mit.edu	37	chr1	153660672	153660672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaccattccagcagatcCgcctgacgttgcgcaaattt	9	14	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:153660672C>T	uc001fcs.3	+	15	2813	c.2392C>T	c.(2392-2394)CGC>TGC	p.R798C	NPR1_uc010pdz.1_Missense_Mutation_p.R544C|NPR1_uc010pea.1_Missense_Mutation_p.R276C	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	798	Cytoplasmic (Potential).|Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|stomach(1)|breast(1)	7	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CCAGCAGATCCGCCTGACGTT	0.607													T	153660672	C	T	153660672	3	4	11	1	0	0	0	0	1	0	0	0	10594	652	23	1	2450	1	NPR1	1	153660672	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1333722	153660672	95589949	69	8908											
KIAA0907	22889	broad.mit.edu	37	chr1	155896918	155896918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactaattcccgtgtctggCcctgaacatgaagatataat	7	11	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:155896918C>T	uc001fmi.1	-	5	518	c.494G>A	c.(493-495)GGC>GAC	p.G165D	KIAA0907_uc001fmj.1_Missense_Mutation_p.G165D|KIAA0907_uc009wrk.1_Intron|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.G165D|KIAA0907_uc001fmm.2_Missense_Mutation_p.G165D|SCARNA4_uc001fmn.1_5'Flank|KIAA0907_uc001fmo.2_Missense_Mutation_p.G165D	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	165											0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CCGTGTCTGGCCCTGAACATG	0.413													T	155896918	C	T	155896918	3	4	11	1	0	0	0	0	1	0	0	0	8199	739	26	2	1390	2	KIAA0907	1	155896918	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2236246	155896918	93353703	70	8909											
RXFP4	339403	broad.mit.edu	37	chr1	155911718	155911718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcccggagagcccctgGcccaccttcagacaccttcg	10	18	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:155911718G>A	uc010pgs.1	+	1	239	c.218G>A	c.(217-219)GGC>GAC	p.G73D		NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN	relaxin 3 receptor 2	73	Cytoplasmic (Potential).					integral to membrane|plasma membrane	angiotensin type II receptor activity				0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGAGCCCCTGGCCCACCTTCA	0.612													A	155911718	G	A	155911718	3	1	11	1	0	0	0	0	1	0	0	0	13762	1203	42	2	220	2	RXFP4	1	155911718	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	14800	155911718	93338903	71	8910											
SEMA4A	64218	broad.mit.edu	37	chr1	156146693	156146693	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggggagaaggccccgttaAgcagagagcaacacctccag	13	12	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:156146693A>G	uc001fnl.2	+	15	2295	c.2191A>G	c.(2191-2193)AGC>GGC	p.S731G	SEMA4A_uc009wrq.2_Missense_Mutation_p.S731G|SEMA4A_uc001fnm.2_Missense_Mutation_p.S731G|SEMA4A_uc001fnn.2_Missense_Mutation_p.S599G|SEMA4A_uc001fno.2_Missense_Mutation_p.S731G	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	731	Cytoplasmic (Potential).				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					GGCCCCGTTAAGCAGAGAGCA	0.597													G	156146693	A	G	156146693	3	3	11	1	0	0	0	0	1	0	0	0	14031	72	3	3	2245	3	SEMA4A	1	156146693	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	234975	156146693	93103928	72	8911											
CCT3	7203	broad.mit.edu	37	chr1	156288680	156288680	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctttctcctttcttgtaTtccagagaagaatccagcag	8	10	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:156288680T>C	uc001fol.1	-	8	958	c.738A>G	c.(736-738)GAA>GAG	p.E246E	CCT3_uc001fom.1_Silent_p.E245E|CCT3_uc001fon.1_Silent_p.E208E|CCT3_uc010phj.1_Silent_p.E200E|CCT3_uc010phk.1_Silent_p.E200E|CCT3_uc010phl.1_Silent_p.E200E	NM_005998	NP_005989	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 isoform a	246					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					CTTTCTTGTATTCCAGAGAAG	0.433													C	156288680	T	C	156288680	2	2	11	1	0	0	0	0	0	0	0	1	2954	1490	52	3		3	CCT3	1	156288680	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	141987	156288680	92961941	73	8912											
FCRL1	115350	broad.mit.edu	37	chr1	157772362	157772362	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatgtctcctgtgcccaTagcaactgagcagatgagga	13	9	1	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:157772362T>C	uc001frg.2	-	4	525	c.412A>G	c.(412-414)ATG>GTG	p.M138V	FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.M138V|FCRL1_uc001fri.2_Missense_Mutation_p.M138V|FCRL1_uc001frj.2_Intron	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	138	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			skin(4)|ovary(3)	7	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTGTGCCCATAGCAACTGAG	0.547													C	157772362	T	C	157772362	3	2	11	1	0	0	0	0	1	0	0	0	5794	1406	49	3	975	3	FCRL1	1	157772362	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	1483682	157772362	91478259	74	8913											
KIRREL	55243	broad.mit.edu	37	chr1	158061167	158061167	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgggcctggaaggagaActtcttggaggtggggaccc	18	8	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:158061167A>C	uc001frn.3	+	11	1696	c.1292A>C	c.(1291-1293)AAC>ACC	p.N431T	KIRREL_uc010pib.1_Missense_Mutation_p.N331T|KIRREL_uc009wsq.2_Missense_Mutation_p.N267T|KIRREL_uc001fro.3_Missense_Mutation_p.N245T	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	431	Ig-like C2-type 5.|Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					TGGAAGGAGAACTTCTTGGAG	0.592													C	158061167	A	C	158061167	3	2	11	1	0	0	0	0	1	0	0	0	8324	43	2	5	1334	5	KIRREL	1	158061167	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	288805	158061167	91189454	75	8914											
CD1B	910	broad.mit.edu	37	chr1	158300854	158300854	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcggcccctggaaggcTgtgaagagtggaaaagcaag	17	7	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:158300854T>C	uc001frx.2	-	2	170	c.62_splice	c.e2-1	p.A21_splice	CD1B_uc001frw.2_Splice_Site|CD1B_uc010pic.1_Intron	NM_001764	NP_001755	P29016	CD1B_HUMAN	CD1B antigen precursor						antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			ovary(2)	2	all_hematologic(112;0.0378)					CCTGGAAGGCTGTGAAGAGTG	0.448													C	158300854	T	C	158300854	5	2	11	1	0	0	0	0	0	0	1	0	2975	1594	55	3	961	3	CD1B	1	158300854	Splice_Site	SNP	T	TCGA-BR-4256-01A-01D-1126-08	239687	158300854	90949767	76	8915											
OR10K1	391109	broad.mit.edu	37	chr1	158435578	158435578	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagatttgctatacctttgTcattgtacccaagatgctgg	9	8	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:158435578T>G	uc010pij.1	+	1	227	c.227T>G	c.(226-228)GTC>GGC	p.V76G		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K,	76	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TATACCTTTGTCATTGTACCC	0.468													G	158435578	T	G	158435578	3	3	11	1	0	0	0	0	1	0	0	0	10913	1667	58	5	229	5	OR10K1	1	158435578	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	134724	158435578	90815043	77	8916											
OR10Z1	128368	broad.mit.edu	37	chr1	158576839	158576839	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaggatctttatcctcagtcTtttggtcctcttggtctcct	8	11	5	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:158576839T>A	uc010pio.1	+	1	611	c.611T>A	c.(610-612)CTT>CAT	p.L204H		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	204	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					ATCCTCAGTCTTTTGGTCCTC	0.522													A	158576839	T	A	158576839	3	1	11	1	0	0	0	0	1	0	0	0	10923	1609	56	5	613	5	OR10Z1	1	158576839	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	141261	158576839	90673782	78	8917											
SPTA1	6708	broad.mit.edu	37	chr1	158626424	158626424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattgagatctaatagaaagGcctcatgcttctttagaaga	8	6	3	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:158626424G>A	uc001fst.1	-	20	3027	c.2828C>T	c.(2827-2829)GCC>GTC	p.A943V		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	943	Spectrin 10.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TAATAGAAAGGCCTCATGCTT	0.383													A	158626424	G	A	158626424	3	1	11	1	0	0	0	0	1	0	0	0	15115	1203	42	2	4563	2	SPTA1	1	158626424	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	49585	158626424	90624197	79	8918											
ARHGAP30	257106	broad.mit.edu	37	chr1	161026197	161026197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaaacttgtcatagagcCggtaagtgagcaggggatcc	13	9	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:161026197C>T	uc001fxl.2	-	3	672	c.326G>A	c.(325-327)CGG>CAG	p.R109Q	ARHGAP30_uc001fxk.2_Missense_Mutation_p.R109Q|ARHGAP30_uc001fxm.2_Intron|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_5'UTR	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	109	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GTCATAGAGCCGGTAAGTGAG	0.557													T	161026197	C	T	161026197	3	4	11	1	0	0	0	0	1	0	0	0	879	652	23	1	3019	1	ARHGAP30	1	161026197	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2399773	161026197	88224424	80	8919											
PVRL4	81607	broad.mit.edu	37	chr1	161044096	161044096	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcagaacaagagtgcggcGatcacacccaccaccaccac	9	16	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:161044096G>A	uc001fxo.2	-	6	1367	c.1068C>T	c.(1066-1068)ATC>ATT	p.I356I	PVRL4_uc010pjy.1_Silent_p.I35I|PVRL4_uc010pjz.1_Silent_p.I90I	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	356	Helical; (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGAGTGCGGCGATCACACCCA	0.597													A	161044096	G	A	161044096	2	1	11	1	0	0	0	0	0	0	0	1	12842	1048	37	1		1	PVRL4	1	161044096	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	17899	161044096	88206525	81	8920											
PVRL4	81607	broad.mit.edu	37	chr1	161049588	161049588	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtgcagtagcgctagttcCtgggcgccttcgcccgcgtc	14	14	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:161049588C>A	uc001fxo.2	-	2	530	c.231G>T	c.(229-231)CAG>CAT	p.Q77H		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	77	Ig-like V-type 1.|Extracellular (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCGCTAGTTCCTGGGCGCCTT	0.682													A	161049588	C	A	161049588	3	1	11	1	0	0	0	0	1	0	0	0	12842	680	24	5	1333	5	PVRL4	1	161049588	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	5492	161049588	88201033	82	8921											
USP21	27005	broad.mit.edu	37	chr1	161130992	161130992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccttccacatgatatccGcccggtcctctgagcctttc	7	17	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:161130992G>A	uc010pke.1	+	3	939	c.562G>A	c.(562-564)GCC>ACC	p.A188T	USP21_uc010pkc.1_Missense_Mutation_p.A188T|USP21_uc010pkd.1_Missense_Mutation_p.A188T|USP21_uc010pkf.1_Missense_Mutation_p.A188T	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21	188					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)|prostate(1)|breast(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CATGATATCCGCCCGGTCCTC	0.577													A	161130992	G	A	161130992	3	1	11	1	0	0	0	0	1	0	0	0	17050	1087	38	1	564	1	USP21	1	161130992	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	81404	161130992	88119629	83	8922											
B4GALT3	8703	broad.mit.edu	37	chr1	161141819	161141819	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcgagccagcaactggtaTgtcagtgagttcatcccatc	9	12	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:161141819T>C	uc001fyq.1	-	8	1231	c.969A>G	c.(967-969)ACA>ACG	p.T323T	PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron|B4GALT3_uc001fyo.1_Silent_p.T103T|B4GALT3_uc001fyp.1_RNA|B4GALT3_uc001fyr.1_Silent_p.T323T|B4GALT3_uc001fys.1_Silent_p.T323T	NM_003779	NP_003770	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	323	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity				0	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	GCAACTGGTATGTCAGTGAGT	0.547													C	161141819	T	C	161141819	2	2	11	1	0	0	0	0	0	0	0	1	1272	1451	51	3		3	B4GALT3	1	161141819	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	10827	161141819	88108802	84	8923											
RGS4	5999	broad.mit.edu	37	chr1	163043361	163043361	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaccatctaaactaagtccCaaggccaaaaagatctataa	4	11	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:163043361C>A	uc009wuy.2	+	4	838	c.327C>A	c.(325-327)CCC>CCA	p.P109P	RGS4_uc001gcl.3_Silent_p.P206P|RGS4_uc009wuz.2_Intron|RGS4_uc009wva.2_Silent_p.P91P	NM_005613	NP_005604	P49798	RGS4_HUMAN	regulator of G-protein signaling 4 isoform 2	109	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(2)|central_nervous_system(1)	3						AACTAAGTCCCAAGGCCAAAA	0.299													A	163043361	C	A	163043361	2	1	11	1	0	0	0	0	0	0	0	1	13307	581	21	5		5	RGS4	1	163043361	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1901542	163043361	86207260	85	8924											
POGK	57645	broad.mit.edu	37	chr1	166818499	166818499	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagcagtttggagtattggAaaaaaacgttcgagactggc	12	6	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:166818499A>G	uc001gdt.1	+	5	803	c.683A>G	c.(682-684)GAA>GGA	p.E228G	POGK_uc010ple.1_Missense_Mutation_p.E143G|POGK_uc010plf.1_Missense_Mutation_p.E110G	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	228					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						GGAGTATTGGAAAAAAACGTT	0.552													G	166818499	A	G	166818499	3	3	11	1	0	0	0	0	1	0	0	0	12185	246	9	3	697	3	POGK	1	166818499	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	3775138	166818499	82432122	86	8925											
ADCY10	55811	broad.mit.edu	37	chr1	167778958	167778959	+	Frame_Shift_Ins	INS	-	-	T													agctctcatcaggaatttgtINSttttttgaagatcctgaatg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:167778957_167778958G>GT	uc001ger.3	-	32	5088_5089	c.4790_4791C>AC	c.(4789-4791)aacfs	p.N1597fs	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Frame_Shift_Ins_p.N1444fs|ADCY10_uc009wvk.3_Frame_Shift_Ins_p.N1505fs	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1597					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCAGGAATTTGTTTTTTTGAAG	0.351													T	167778959	-	T	167778958	7	5	11	1	0	1	1	0	0	0	0	0	293	1725	60	0	46	0	ADCY10	1	167778958	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	960459	167778958	81471663	87	8926											
C1orf114	57821	broad.mit.edu	37	chr1	169388360	169388360	+	Frame_Shift_Del	DEL	T	T	-													atactatgtcattctctctcTttttttctttctcttcttct							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:169388359_169388359CT>C	uc001gga.1	-	3	1275	c.1107_1107AG>G	c.(1105-1107)aagfs	p.K369fs	C1orf114_uc001gfz.1_Frame_Shift_Del_p.K369fs|C1orf114_uc009wvq.1_Frame_Shift_Del_p.K369fs|C1orf114_uc001ggb.3_Frame_Shift_Del_p.K369fs	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	369										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					CATTCTCTCTCTTTTTTTCTT	0.328													-	169388360	T	-	169388360	7	5	11	1	0	1	0	1	0	0	0	0	1987	1609	56	0	432	0	C1orf114	1	169388360	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	1609402	169388360	79862261	88	8927											
F5	2153	broad.mit.edu	37	chr1	169500040	169500040	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctactgggttcacagctgagTagtaggcccaagcccgacag	12	12	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:169500040T>C	uc001ggg.1	-	15	5337	c.5192A>G	c.(5191-5193)TAC>TGC	p.Y1731C		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1731	F5/8 type A 3.|Plastocyanin-like 5.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CACAGCTGAGTAGTAGGCCCA	0.483													C	169500040	T	C	169500040	3	2	11	1	0	0	0	0	1	0	0	0	5348	1638	57	3	1526	3	F5	1	169500040	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	111680	169500040	79750581	89	8928											
SELL	6402	broad.mit.edu	37	chr1	169676575	169676575	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccatggccactgcatgacCagggctggcaagaagcttta	11	12	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:169676575C>T	uc001ggk.2	-	4	686	c.488G>A	c.(487-489)TGG>TAG	p.W163*	C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_Nonsense_Mutation_p.W116*|SELL_uc001ggl.1_Nonsense_Mutation_p.W176*	NM_000655	NP_000646	P14151	LYAM1_HUMAN	selectin L precursor	163	EGF-like.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding				0	all_hematologic(923;0.208)					ACTGCATGACCAGGGCTGGCA	0.388													T	169676575	C	T	169676575	4	4	11	1	0	0	0	0	0	1	0	0	14016	595	21	4	654	4	SELL	1	169676575	Nonsense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	176535	169676575	79574046	90	8929											
SLC9A11	284525	broad.mit.edu	37	chr1	173506088	173506088	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttatacttactttccttGgatggagtaatagcattttg	9	5	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:173506088G>A	uc001giz.2	-	14	2071	c.1648C>T	c.(1648-1650)CAA>TAA	p.Q550*	SLC9A11_uc009wwe.2_Nonsense_Mutation_p.Q108*|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	550					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						TACTTTCCTTGGATGGAGTAA	0.318													A	173506088	G	A	173506088	4	1	11	1	0	0	0	0	0	1	0	0	14711	1357	47	4	1786	4	SLC9A11	1	173506088	Nonsense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3829513	173506088	75744533	91	8930											
TNR	7143	broad.mit.edu	37	chr1	175325484	175325484	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agttggtgctgatggtgccaCtggtgagaggtccattggtg	17	6	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:175325484C>G	uc001gkp.1	-	14	3170	c.3089G>C	c.(3088-3090)AGT>ACT	p.S1030T	TNR_uc009wwu.1_Missense_Mutation_p.S1030T	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1030	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					GATGGTGCCACTGGTGAGAGG	0.498													G	175325484	C	G	175325484	3	3	11	1	0	0	0	0	1	0	0	0	16335	565	20	5	1019	5	TNR	1	175325484	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1819396	175325484	73925137	92	8931											
ASTN1	460	broad.mit.edu	37	chr1	176998870	176998870	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcagggttcaagaaggcGgaaccagctgtaatgaaagc	12	9	2	2	rs138051324		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:176998870G>A	uc001glc.2	-	5	1232	c.1020C>T	c.(1018-1020)TCC>TCT	p.S340S	ASTN1_uc001glb.1_Silent_p.S340S|ASTN1_uc001gld.1_Silent_p.S340S|ASTN1_uc009wwx.1_Silent_p.S340S|ASTN1_uc001gle.3_RNA|MIR488_hsa-mir-488|MI0003123_5'Flank	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	340					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						TCAAGAAGGCGGAACCAGCTG	0.483													A	176998870	G	A	176998870	2	1	11	1	0	0	0	0	0	0	0	1	1064	1103	39	1		1	ASTN1	1	176998870	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1673386	176998870	72251751	93	8932											
SEC16B	89866	broad.mit.edu	37	chr1	177937025	177937025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagggacaggccgatgatgtCcatctctccgaaaccctcgg	12	13	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:177937025C>T	uc001gli.1	-	2	182	c.92G>A	c.(91-93)GGA>GAA	p.G31E	SEC16B_uc001glk.1_5'UTR|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001glj.1_Missense_Mutation_p.G31E|SEC16B_uc001gll.3_Missense_Mutation_p.G31E	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	leucine zipper transcription regulator 2	31					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				ovary(3)|central_nervous_system(1)	4						CCGATGATGTCCATCTCTCCG	0.602													T	177937025	C	T	177937025	3	4	11	1	0	0	0	0	1	0	0	0	13987	855	30	4	3190	4	SEC16B	1	177937025	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	938155	177937025	71313596	94	8933											
RASAL2	9462	broad.mit.edu	37	chr1	178389670	178389670	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttcagcaagcgcctgaaaGgctccatcaagaggaccaaa	9	12	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:178389670G>T	uc001glr.2	+	3	270	c.145G>T	c.(145-147)GGC>TGC	p.G49C	RASAL2_uc009wxb.2_Missense_Mutation_p.G197C|RASAL2_uc001glq.2_Missense_Mutation_p.G197C	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	49	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						GCGCCTGAAAGGCTCCATCAA	0.478													T	178389670	G	T	178389670	3	4	11	1	0	0	0	0	1	0	0	0	13064	1000	35	5	624	5	RASAL2	1	178389670	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	452645	178389670	70860951	95	8934											
NPL	80896	broad.mit.edu	37	chr1	182783988	182783988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcttcctcaagccatggaCcaaaggtaagtagataggtc	10	9	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:182783988C>T	uc009wyb.2	+	7	499	c.359C>T	c.(358-360)ACC>ATC	p.T120I	NPL_uc010pnx.1_Missense_Mutation_p.T101I|NPL_uc010pny.1_RNA|NPL_uc001gpo.1_Missense_Mutation_p.T101I|NPL_uc009wyc.2_Missense_Mutation_p.T120I|NPL_uc001gpp.3_Missense_Mutation_p.T120I|NPL_uc001gpq.1_Missense_Mutation_p.T120I	NM_030769	NP_110396	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase	120					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			ovary(1)|central_nervous_system(1)|skin(1)	3						AAGCCATGGACCAAAGGTAAG	0.423													T	182783988	C	T	182783988	3	4	11	1	0	0	0	0	1	0	0	0	10585	507	18	4	377	4	NPL	1	182783988	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	4394318	182783988	66466633	96	8935											
LAMC2	3918	broad.mit.edu	37	chr1	183177156	183177156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcaagaatggcttttacCggcacagagaaagggaccgc	13	9	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:183177156C>T	uc001gqa.2	+	2	534	c.220C>T	c.(220-222)CGG>TGG	p.R74W	LAMC2_uc001gpz.3_Missense_Mutation_p.R74W|LAMC2_uc010poa.1_5'UTR	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	74	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						TGGCTTTTACCGGCACAGAGA	0.507													T	183177156	C	T	183177156	3	4	11	1	0	0	0	0	1	0	0	0	8615	643	23	1	226	1	LAMC2	1	183177156	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	393168	183177156	66073465	97	8936											
NCF2	4688	broad.mit.edu	37	chr1	183559359	183559359	+	Frame_Shift_Del	DEL	G	G	-													gttgaagcaaatccgggagtGggggtcctggacggcactga							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:183559358_183559358TG>T	uc001gqj.4	-	0	382	c.107_107CA>A	c.(106-108)cacfs	p.H36fs	NCF2_uc010pod.2_Frame_Shift_Del_p.H36fs|NCF2_uc010poe.2_Frame_Shift_Del_p.H36fs|NCF2_uc001gqk.4_Frame_Shift_Del_p.H36fs	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	36					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						AATCCGGGAGTGGGGGTCCTG	0.577													-	183559359	G	-	183559359	7	5	11	1	0	1	0	1	0	0	0	0	10217	1348	47	0	1534	0	NCF2	1	183559359	Frame_Shift_Del	DEL	G	TCGA-BR-4256-01A-01D-1126-08	382203	183559359	65691262	98	8937											
TPR	7175	broad.mit.edu	37	chr1	186305776	186305776	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagttcagactgaagttgCacagtctgttcctggagatt	11	7	2	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:186305776C>T	uc001grv.2	-	33	4854	c.4557G>A	c.(4555-4557)GTG>GTA	p.V1519V		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1519	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ACTGAAGTTGCACAGTCTGTT	0.378			T	NTRK1	papillary thyroid								T	186305776	C	T	186305776	2	4	11	1	0	0	0	0	0	0	0	1	16413	697	25	2		2	TPR	1	186305776	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2746417	186305776	62944845	99	8938											
KCNT2	343450	broad.mit.edu	37	chr1	196395022	196395022	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atctttaagggctgaaccttGaaggtagataactcgttggg	12	6	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:196395022G>A	uc001gtd.1	-	11	1141	c.1081C>T	c.(1081-1083)CAA>TAA	p.Q361*	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Nonsense_Mutation_p.Q361*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.Q361*|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Nonsense_Mutation_p.Q361*|KCNT2_uc009wyv.1_Nonsense_Mutation_p.Q336*	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	361	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						GCTGAACCTTGAAGGTAGATA	0.403													A	196395022	G	A	196395022	4	1	11	1	0	0	0	0	0	1	0	0	8092	1299	45	4	2398	4	KCNT2	1	196395022	Nonsense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	10089246	196395022	52855599	100	8939											
CFH	3075	broad.mit.edu	37	chr1	196716354	196716354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttgaatttgtgtgtaaaCggggatatcgtctttcatca	10	6	3	1	rs145347741	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:196716354C>T	uc001gtj.3	+	22	3847	c.3607C>T	c.(3607-3609)CGG>TGG	p.R1203W		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	1203	Sushi 20.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						TGTGTGTAAACGGGGATATCG	0.383													T	196716354	C	T	196716354	3	4	11	1	0	0	0	0	1	0	0	0	3283	527	19	1	3711	1	CFH	1	196716354	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	321332	196716354	52534267	101	8940											
CFHR4	10877	broad.mit.edu	37	chr1	196883716	196883716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattggactacgaatgctaCgatggatatgaaatcagtta	9	6	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:196883716C>T	uc001gto.2	+	4	600	c.531C>T	c.(529-531)TAC>TAT	p.Y177Y	CFHR4_uc009wyy.2_Silent_p.Y423Y|CFHR4_uc001gtp.2_Silent_p.Y424Y	NM_006684	NP_006675	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	177	Sushi 3.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)|skin(1)	3						ACGAATGCTACGATGGATATG	0.398													T	196883716	C	T	196883716	2	4	11	1	0	0	0	0	0	0	0	1	3287	547	19	1		1	CFHR4	1	196883716	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	167362	196883716	52366905	102	8941											
ZBTB41	360023	broad.mit.edu	37	chr1	197144238	197144238	+	Frame_Shift_Del	DEL	T	T	-													cattcttcacactgatgagcTttttcaccttaaaataaaga							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:197144237_197144237CT>C	uc001gtx.1	-	7	1957	c.1888_1888AG>G	c.(1888-1890)gctfs	p.A630fs	ZBTB41_uc009wyz.1_Non-coding_Transcript	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	Homo sapiens zinc finger and BTB domain containing 41 (ZBTB41), mRNA.	630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CACTGATGAGCTTTTTCACCT	0.348													-	197144238	T	-	197144238	7	5	11	1	0	1	0	1	0	0	0	0	17540	1606	56	0	854	0	ZBTB41	1	197144238	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	260522	197144238	52106383	103	8942											
ZBTB41	360023	broad.mit.edu	37	chr1	197145714	197145714	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatgtatttttttgtgcTttgtaaggtgatcatgacgg	11	4	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:197145714T>C	uc001gtx.1	-	7	1928	c.1859A>G	c.(1858-1860)AAG>AGG	p.K620R	ZBTB41_uc009wyz.1_RNA	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	620	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						TTTTTTGTGCTTTGTAAGGTG	0.294													C	197145714	T	C	197145714	3	2	11	1	0	0	0	0	1	0	0	0	17540	1609	56	3	886	3	ZBTB41	1	197145714	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	1476	197145714	52104907	104	8943											
DENND1B	163486	broad.mit.edu	37	chr1	197586803	197586803	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttaccagcagtagtccagCaggtgtggaggaagcactgg	15	9	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:197586803C>T	uc001guf.3	-	11	1097	c.759G>A	c.(757-759)CTG>CTA	p.L253L	DENND1B_uc010ppe.1_Silent_p.L233L|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Silent_p.L223L|DENND1B_uc001gug.3_Silent_p.L52L	NM_144977	NP_659414	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B isoform 2	253	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0						AGTAGTCCAGCAGGTGTGGAG	0.418													T	197586803	C	T	197586803	2	4	11	1	0	0	0	0	0	0	0	1	4427	697	25	2		2	DENND1B	1	197586803	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	441089	197586803	51663818	105	8944											
LHX9	56956	broad.mit.edu	37	chr1	197890758	197890758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaagcggaagagcccagcGctgggagtggacatcgtcaa	16	10	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:197890758G>A	uc001guk.1	+	3	1139	c.702G>A	c.(700-702)GCG>GCA	p.A234A	LHX9_uc001gui.1_Silent_p.A225A|LHX9_uc001guj.1_Silent_p.A240A	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	234					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						AGAGCCCAGCGCTGGGAGTGG	0.652													A	197890758	G	A	197890758	2	1	11	1	0	0	0	0	0	0	0	1	8777	1074	38	1		1	LHX9	1	197890758	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	303955	197890758	51359863	106	8945											
NAV1	89796	broad.mit.edu	37	chr1	201687704	201687704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcctggtacatgcacggCgaacgggcccactactccca	10	18	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:201687704C>T	uc001gwu.2	+	3	1394	c.1047C>T	c.(1045-1047)GGC>GGT	p.G349G		NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	349					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						ACATGCACGGCGAACGGGCCC	0.687													T	201687704	C	T	201687704	2	4	11	1	0	0	0	0	0	0	0	1	10183	755	27	1		1	NAV1	1	201687704	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3796946	201687704	47562917	107	8946											
PIK3C2B	5287	broad.mit.edu	37	chr1	204408163	204408163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgctccacctggatcttaCgcagggtctcagcattaggg	11	12	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:204408163C>T	uc001haw.2	-	24	3895	c.3416G>A	c.(3415-3417)CGT>CAT	p.R1139H	PIK3C2B_uc010pqv.1_Missense_Mutation_p.R1111H	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	1139	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTGGATCTTACGCAGGGTCTC	0.587													T	204408163	C	T	204408163	3	4	11	1	0	0	0	0	1	0	0	0	11910	536	19	1	1532	1	PIK3C2B	1	204408163	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2720459	204408163	44842458	108	8947											
DYRK3	8444	broad.mit.edu	37	chr1	206821125	206821125	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagggtatgatgatgcagaTggggcctatattcatgtacc	14	6	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:206821125T>C	uc001hej.2	+	3	750	c.582T>C	c.(580-582)GAT>GAC	p.D194D	DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Silent_p.D174D	NM_003582	NP_003573	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	194					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|central_nervous_system(1)	3	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			ATGATGCAGATGGGGCCTATA	0.418													C	206821125	T	C	206821125	2	2	11	1	0	0	0	0	0	0	0	1	4857	1461	51	3		3	DYRK3	1	206821125	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	2412962	206821125	42429496	109	8948											
KCNH1	3756	broad.mit.edu	37	chr1	210856804	210856804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctccttcagctcgtgcCtcacctccaggactgtggcc	9	17	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:210856804C>T	uc001hib.2	-	11	2959	c.2789G>A	c.(2788-2790)AGG>AAG	p.R930K	KCNH1_uc001hic.2_Missense_Mutation_p.R903K	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	930	Cytoplasmic (Potential).|CAD (involved in subunit assembly) (By similarity).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CAGCTCGTGCCTCACCTCCAG	0.532													T	210856804	C	T	210856804	3	4	11	1	0	0	0	0	1	0	0	0	8031	681	24	4	184	4	KCNH1	1	210856804	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	4035679	210856804	38393817	110	8949											
CNIH3	149111	broad.mit.edu	37	chr1	224804897	224804897	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggccttcactttcgctgcGttctgctacatgctgtctct	8	13	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:224804897G>A	uc001hos.1	+	1	719	c.21G>A	c.(19-21)GCG>GCA	p.A7A		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	cornichon homolog 3	7	Cytoplasmic (Potential).				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane					0	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CTTTCGCTGCGTTCTGCTACA	0.597													A	224804897	G	A	224804897	2	1	11	1	0	0	0	0	0	0	0	1	3604	1132	40	1		1	CNIH3	1	224804897	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	13948093	224804897	24445724	111	8950											
LBR	3930	broad.mit.edu	37	chr1	225591108	225591108	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcgtcacgagcttctcggTggacaagcaacatggtgaaa	11	10	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:225591108T>C	uc001hoy.2	-	14	1888	c.1745A>G	c.(1744-1746)CAC>CGC	p.H582R	LBR_uc001hoz.2_Missense_Mutation_p.H582R	NM_002296	NP_002287	Q14739	LBR_HUMAN	lamin B receptor	582					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			ovary(1)|skin(1)	2	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		AGCTTCTCGGTGGACAAGCAA	0.388													C	225591108	T	C	225591108	3	2	11	1	0	0	0	0	1	0	0	0	8652	1696	59	3	106	3	LBR	1	225591108	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	786211	225591108	23659513	112	8951											
ACBD3	64746	broad.mit.edu	37	chr1	226353563	226353563	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaaaaacactgttacctcCtgtcattccccaacacatca	3	15	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:226353563C>A	uc001hpy.2	-	2	472	c.425G>T	c.(424-426)AGG>ATG	p.R142M		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	acyl-Coenzyme A binding domain containing 3	142	ACB.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding				0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CTGTTACCTCCTGTCATTCCC	0.398													A	226353563	C	A	226353563	3	1	11	1	0	0	0	0	1	0	0	0	123	681	24	5	1189	5	ACBD3	1	226353563	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	762455	226353563	22897058	113	8952											
TTC13	79573	broad.mit.edu	37	chr1	231060632	231060632	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatgtctctccactgcatcAaccgtgtcttcccattcatt	4	15	4	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:231060632A>G	uc001huf.3	-	14	1707	c.1676T>C	c.(1675-1677)TTG>TCG	p.L559S	TTC13_uc009xfi.2_Missense_Mutation_p.L506S|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.L506S|TTC13_uc009xfk.1_Missense_Mutation_p.L449S	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	559							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CCACTGCATCAACCGTGTCTT	0.428													G	231060632	A	G	231060632	3	3	11	1	0	0	0	0	1	0	0	0	16677	131	5	3	946	3	TTC13	1	231060632	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	4707069	231060632	18189989	114	8953											
ERO1LB	56605	broad.mit.edu	37	chr1	236389790	236389790	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaattctttaatattaggTccccaactgggcttacccca	6	11	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:236389790T>C	uc001hxt.2	-	12	1087	c.831A>G	c.(829-831)GGA>GGG	p.G277G		NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	endoplasmic reticulum oxidoreductin 1-Lbeta	277					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding				0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TAATATTAGGTCCCCAACTGG	0.363													C	236389790	T	C	236389790	2	2	11	1	0	0	0	0	0	0	0	1	5240	1654	58	3		3	ERO1LB	1	236389790	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	5329158	236389790	12860831	115	8954											
HEATR1	55127	broad.mit.edu	37	chr1	236760194	236760194	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgatacgtcctctgcagctAccagcgccgacactatggta	9	14	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:236760194A>G	uc001hyd.1	-	6	811	c.686T>C	c.(685-687)GTA>GCA	p.V229A		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	229					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTCTGCAGCTACCAGCGCCGA	0.448													G	236760194	A	G	236760194	3	3	11	1	0	0	0	0	1	0	0	0	7027	391	14	3	5908	3	HEATR1	1	236760194	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	370404	236760194	12490427	116	8955											
RYR2	6262	broad.mit.edu	37	chr1	237777405	237777405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcactatcacactctccgGctctactcagccgtctgtgc	6	16	6	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:237777405G>A	uc001hyl.1	+	37	5097	c.4977G>A	c.(4975-4977)CGG>CGA	p.R1659R		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1659	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACACTCTCCGGCTCTACTCAG	0.502													A	237777405	G	A	237777405	2	1	11	1	0	0	0	0	0	0	0	1	13769	1190	42	2		2	RYR2	1	237777405	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1017211	237777405	11473216	117	8956											
RGS7	6000	broad.mit.edu	37	chr1	240977013	240977013	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgtattctaaatactgttcCgtgtaacttagtagactaag	7	7	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:240977013C>A	uc001hyv.2	-	13	1191	c.861G>T	c.(859-861)ACG>ACT	p.T287T	RGS7_uc010pyh.1_Silent_p.T261T|RGS7_uc010pyj.1_Silent_p.T203T|RGS7_uc001hyu.2_Silent_p.T287T|RGS7_uc009xgn.1_Silent_p.T234T|RGS7_uc001hyw.2_Silent_p.T287T|RGS7_uc001hyt.2_Silent_p.T119T	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	287	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AATACTGTTCCGTGTAACTTA	0.433													A	240977013	C	A	240977013	2	1	11	1	0	0	0	0	0	0	0	1	13310	639	23	5		5	RGS7	1	240977013	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3199608	240977013	8273608	118	8957											
OR11L1	391189	broad.mit.edu	37	chr1	248004443	248004443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatggagatcatggtcccGtagtagagagtgacaacagc	12	8	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:248004443G>A	uc001idn.1	-	1	756	c.756C>T	c.(754-756)TAC>TAT	p.Y252Y		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	252	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCATGGTCCCGTAGTAGAGAG	0.493													A	248004443	G	A	248004443	2	1	11	1	0	0	0	0	0	0	0	1	10930	1140	40	1		1	OR11L1	1	248004443	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	7027430	248004443	1246178	119	8958											
RNF144A	9781	broad.mit.edu	37	chr2	7170255	7170255	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctgtctctgcccctcacAggatgatttccttctgatac	6	14	4	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:7170255A>G	uc002qys.2	+	8	1100	c.658_splice	c.e8-2	p.D220_splice	RNF144A_uc002qyt.2_Splice_Site_p.D69_splice	NM_014746	NP_055561	P50876	R144A_HUMAN	ring finger protein 144							Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			ovary(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TGCCCCTCACAGGATGATTTC	0.527													G	7170255	A	G	7170255	5	3	11	1	0	0	0	0	0	0	1	0	13445	202	7	3	678	3	RNF144A	2	7170255	Splice_Site	SNP	A	TCGA-BR-4256-01A-01D-1126-08		7170255	236029118	120	8959											
SMC6	79677	broad.mit.edu	37	chr2	17922967	17922967	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaagttttttaggtgaatActctcaattattccaacttc	5	7	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:17922967A>G	uc002rco.2	-	4	446	c.150T>C	c.(148-150)AGT>AGC	p.S50S	SMC6_uc010exo.2_Silent_p.S50S|SMC6_uc002rcn.2_Silent_p.S50S|SMC6_uc002rcp.1_Silent_p.S50S|SMC6_uc002rcq.2_Silent_p.S50S|SMC6_uc002rcr.1_Silent_p.S50S	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	50					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTAGGTGAATACTCTCAATTA	0.328													G	17922967	A	G	17922967	2	3	11	1	0	0	0	0	0	0	0	1	14787	388	14	3		3	SMC6	2	17922967	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	10752712	17922967	225276406	121	8960											
MSGN1	343930	broad.mit.edu	37	chr2	17998310	17998310	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtacaccatcaagtacatCggggaactcacagacctcct	7	13	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:17998310C>T	uc010yjt.1	+	1	525	c.525C>T	c.(523-525)ATC>ATT	p.I175I		NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN	mesogenin 1	175	Helix-loop-helix motif.				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCAAGTACATCGGGGAACTCA	0.597													T	17998310	C	T	17998310	2	4	11	1	0	0	0	0	0	0	0	1	9869	874	31	1		1	MSGN1	2	17998310	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	75343	17998310	225201063	122	8961											
NT5C1B	93034	broad.mit.edu	37	chr2	18764262	18764262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcattgacatactgtagtGcctgcaggttacaaacatga	9	8	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:18764262G>A	uc002rcz.2	-	7	1177	c.1073C>T	c.(1072-1074)GCA>GTA	p.A358V	NT5C1B_uc002rcy.2_Missense_Mutation_p.A358V|NT5C1B_uc010exr.2_Missense_Mutation_p.A300V|NT5C1B_uc010yju.1_Missense_Mutation_p.A298V|NT5C1B_uc002rda.2_Missense_Mutation_p.A298V|NT5C1B_uc010yjv.1_Missense_Mutation_p.A375V|NT5C1B_uc010yjw.1_Missense_Mutation_p.A341V|NT5C1B_uc010exs.2_Missense_Mutation_p.A360V	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 1	358					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				ATACTGTAGTGCCTGCAGGTT	0.463													A	18764262	G	A	18764262	3	1	11	1	0	0	0	0	1	0	0	0	10686	1333	46	2	775	2	NT5C1B	2	18764262	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	765952	18764262	224435111	123	8962											
SDC1	6382	broad.mit.edu	37	chr2	20403769	20403769	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggtggcgggctcctgggcCgtggtggctgtggtcgttga	21	8	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:20403769C>A	uc002rdo.1	-	3	731	c.432G>T	c.(430-432)ACG>ACT	p.T144T	SDC1_uc002rdp.1_Silent_p.T144T|SDC1_uc010exv.2_Silent_p.T144T|SDC1_uc010exw.1_RNA	NM_002997	NP_002988	P18827	SDC1_HUMAN	syndecan 1 precursor	144	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			ovary(4)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GCTCCTGGGCCGTGGTGGCTG	0.687													A	20403769	C	A	20403769	2	1	11	1	0	0	0	0	0	0	0	1	13951	639	23	5		5	SDC1	2	20403769	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1639507	20403769	222795604	124	8963											
C2orf44	80304	broad.mit.edu	37	chr2	24260710	24260710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagacagctgataagtttccTtttcactttgtaagttcttt	6	7	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:24260710T>C	uc002rep.2	-	2	1786	c.1655A>G	c.(1654-1656)AAG>AGG	p.K552R	C2orf44_uc010eya.2_Missense_Mutation_p.K552R	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	hypothetical protein LOC80304 isoform 1	552							protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATAAGTTTCCTTTTCACTTTG	0.473													C	24260710	T	C	24260710	3	2	11	1	0	0	0	0	1	0	0	0	2168	1609	56	3	522	3	C2orf44	2	24260710	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	3856941	24260710	218938663	125	8964											
C2orf16	84226	broad.mit.edu	37	chr2	27805111	27805111	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgcagtccctccgggaTgaggcaagggaggacctctg	14	13	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:27805111T>C	uc002rkz.3	+	1	5723	c.5672T>C	c.(5671-5673)ATG>ACG	p.M1891T	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1891	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					CCCTCCGGGATGAGGCAAGGG	0.592													C	27805111	T	C	27805111	3	2	11	1	0	0	0	0	1	0	0	0	2157	1464	51	3	5674	3	C2orf16	2	27805111	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	3544401	27805111	215394262	126	8965											
VIT	5212	broad.mit.edu	37	chr2	37041497	37041497	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagttcaactcacagcctcGgaactgaattcagagcaggc	10	11	3	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:37041497G>T	uc002rpl.2	+	16	2296	c.2075G>T	c.(2074-2076)CGG>CTG	p.R692L	VIT_uc002rpm.2_Missense_Mutation_p.R670L|VIT_uc010ezv.2_Missense_Mutation_p.R648L|VIT_uc010ezw.2_Missense_Mutation_p.R649L	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	677						proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				TCACAGCCTCGGAACTGAATT	0.522													T	37041497	G	T	37041497	3	4	11	1	0	0	0	0	1	0	0	0	17168	1116	39	5	2258	5	VIT	2	37041497	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	9236386	37041497	206157876	127	8966											
SLC8A1	6546	broad.mit.edu	37	chr2	40657163	40657163	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagactccaagaaacatgtaGaccatggccacaaaatacac	7	11	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:40657163G>A	uc002rrx.2	-	1	282	c.258C>T	c.(256-258)GTC>GTT	p.V86V	SLC8A1_uc002rry.2_Silent_p.V86V|SLC8A1_uc002rrz.2_Silent_p.V86V|SLC8A1_uc002rsa.2_Silent_p.V86V|SLC8A1_uc002rsd.3_Silent_p.V86V|SLC8A1_uc002rsb.1_Silent_p.V86V|SLC8A1_uc010fan.1_Silent_p.V86V|SLC8A1_uc002rsc.1_Silent_p.V86V	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	86	Helical; (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GAAACATGTAGACCATGGCCA	0.403													A	40657163	G	A	40657163	2	1	11	1	0	0	0	0	0	0	0	1	14706	929	33	4		4	SLC8A1	2	40657163	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3615666	40657163	202542210	128	8967											
PLEKHH2	130271	broad.mit.edu	37	chr2	43958705	43958705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgacaactctaccttcCgaagccctgcagacagaagc	7	16	2	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:43958705C>T	uc010yny.1	+	19	2990	c.2907C>T	c.(2905-2907)TCC>TCT	p.S969S	PLEKHH2_uc002rtf.3_Silent_p.S968S	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	969	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTCTACCTTCCGAAGCCCTGC	0.328													T	43958705	C	T	43958705	2	4	11	1	0	0	0	0	0	0	0	1	12077	639	23	1		1	PLEKHH2	2	43958705	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3301542	43958705	199240668	129	8968											
SIX3	6496	broad.mit.edu	37	chr2	45169750	45169750	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagctgcaggccatgtgGctcgaggcgcactaccagga	15	12	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:45169750G>A	uc002run.1	+	1	714	c.507G>A	c.(505-507)TGG>TGA	p.W169*		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	169					visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGGCCATGTGGCTCGAGGCGC	0.647													A	45169750	G	A	45169750	4	1	11	1	0	0	0	0	0	1	0	0	14348	1212	42	2	509	2	SIX3	2	45169750	Nonsense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1211045	45169750	198029623	130	8969											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	11	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-BR-4256-01A-01D-1126-08	8997390	54167140	189032233	131	8970											
SERTAD2	9792	broad.mit.edu	37	chr2	64863063	64863063	+	Nonstop_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgggtccctgggtcttAggacccaacaagcacctcca	10	15	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:64863063A>C	uc002sde.1	-	2	1240	c.943T>G	c.(943-945)TAA>GAA	p.*315E		NM_014755	NP_055570	Q14140	SRTD2_HUMAN	SERTA domain containing 2	315					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus					0						CCTGGGTCTTAGGACCCAACA	0.552													C	64863063	A	C	64863063	4	2	11	1	0	0	0	0	0	0	0	0	14121	433	15	5	5	5	SERTAD2	2	64863063	Nonstop_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	10695923	64863063	178336310	132	8971											
ZNF638	27332	broad.mit.edu	37	chr2	71635329	71635329	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaatccacaaaatattggTgaccatatgttgacctgctc	6	10	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:71635329T>C	uc002shx.2	+	20	3532	c.3213T>C	c.(3211-3213)GGT>GGC	p.G1071G	ZNF638_uc010yqw.1_Silent_p.G650G|ZNF638_uc002shy.2_Silent_p.G1071G|ZNF638_uc002shz.2_Silent_p.G1071G|ZNF638_uc002sia.2_Silent_p.G1071G|ZNF638_uc002sib.1_Silent_p.G1071G|ZNF638_uc010fed.2_RNA|ZNF638_uc002sic.2_Silent_p.G168G	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	1071					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						AAAATATTGGTGACCATATGT	0.333													C	71635329	T	C	71635329	2	2	11	1	0	0	0	0	0	0	0	1	18052	1683	59	3		3	ZNF638	2	71635329	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	6772266	71635329	171564044	133	8972											
NAT8	9027	broad.mit.edu	37	chr2	73868171	73868171	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagaagaaggactggcccgtCttcttgaagcccatgctctg	11	12	3	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:73868171C>G	uc002sji.1	-	2	752	c.585G>C	c.(583-585)AAG>AAC	p.K195N		NM_003960	NP_003951	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8	195	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			ovary(1)	1						ACTGGCCCGTCTTCTTGAAGC	0.542													G	73868171	C	G	73868171	3	3	11	1	0	0	0	0	1	0	0	0	10179	912	32	5	102	5	NAT8	2	73868171	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2232842	73868171	169331202	134	8973											
MOBKL1B	55233	broad.mit.edu	37	chr2	74386330	74386330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcataaaccctgaacagaCgctttagaatagtctttgcc	9	10	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:74386330C>T	uc002skh.3	-	5	655	c.461G>A	c.(460-462)CGT>CAT	p.R154H		NM_018221	NP_060691	Q9H8S9	MOL1B_HUMAN	Mob4B protein	154					hippo signaling cascade		metal ion binding|protein binding				0						CCTGAACAGACGCTTTAGAAT	0.393													T	74386330	C	T	74386330	3	4	11	1	0	0	0	0	1	0	0	0	9683	536	19	1	197	1	MOBKL1B	2	74386330	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	518159	74386330	168813043	135	8974											
CAPG	822	broad.mit.edu	37	chr2	85628441	85628441	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttgtgaaatgctgactcCacaccaccttcctgcagccc	7	16	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:85628441C>T	uc002spl.1	-	5	613	c.363G>A	c.(361-363)GTG>GTA	p.V121V	CAPG_uc002spm.1_Silent_p.V121V|CAPG_uc010ysq.1_Silent_p.V121V|CAPG_uc010fgi.1_Silent_p.V121V|CAPG_uc010fgj.1_Silent_p.V15V	NM_001747	NP_001738	P40121	CAPG_HUMAN	gelsolin-like capping protein	121					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding				0						ATGCTGACTCCACACCACCTT	0.602													T	85628441	C	T	85628441	2	4	11	1	0	0	0	0	0	0	0	1	2621	581	21	4		4	CAPG	2	85628441	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	11242111	85628441	157570932	136	8975											
GGCX	2677	broad.mit.edu	37	chr2	85780609	85780611	+	In_Frame_Del	DEL	AGG	AGG	-													gctgctggccagcatgacgtAggagaacatacctaggaaag							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:85780608_85780610TAGG>T	uc002sps.3	-	7	1006_1008	c.900_902CCTA>A	c.(898-903)tcctac>tcAc	p.Y301del	GGCX_uc010yss.2_In_Frame_Del_p.Y140del|GGCX_uc010yst.2_In_Frame_Del_p.Y244del	NM_000821	NP_000812	P38435	VKGC_HUMAN	Homo sapiens gamma-glutamyl carboxylase (GGCX), transcript variant 1, mRNA.	301					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	CAGCATGACGTAGGAGAACATAC	0.552													-	85780611	AGG	-	85780609	7	5	11	1	0	1	0	1	0	0	0	0	6356	420	15	0	1407	0	GGCX	2	85780609	In_Frame_Del	DEL	AGG	TCGA-BR-4256-01A-01D-1126-08	152168	85780609	157418764	137	8976											
TMEM150A	129303	broad.mit.edu	37	chr2	85829045	85829045	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atggagaacgctgacaggctGacaggcaggaggatccaggc	16	9	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:85829045G>A	uc002spw.1	-	1	748	c.27C>T	c.(25-27)GTC>GTT	p.V9V	USP39_uc002sqb.2_5'Flank|TMEM150A_uc002spx.1_5'UTR|TMEM150A_uc002spz.1_5'UTR|TMEM150A_uc002sqa.1_5'UTR|TMEM150A_uc002spy.1_Silent_p.V9V	NM_001031738	NP_001026908	Q86TG1	T150A_HUMAN	transmembrane protein 150A isoform 1	9						integral to membrane|plasma membrane					0						CTGACAGGCTGACAGGCAGGA	0.612													A	85829045	G	A	85829045	2	1	11	1	0	0	0	0	0	0	0	1	16064	1277	45	4		4	TMEM150A	2	85829045	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	48436	85829045	157370328	138	8977											
SFTPB	6439	broad.mit.edu	37	chr2	85890528	85890528	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgcctgtggtatggcctGctcgctgctgttcccggcct	12	14	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:85890528G>A	uc002sqh.2	-	8	949	c.943C>T	c.(943-945)CAG>TAG	p.Q315*	SFTPB_uc002sqi.2_Nonsense_Mutation_p.Q323*|SFTPB_uc002sqj.2_Nonsense_Mutation_p.Q315*|SFTPB_uc010ysw.1_5'Flank	NM_198843	NP_942140	P07988	PSPB_HUMAN	surfactant, pulmonary-associated protein B	315	Saposin B-type 3.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				ovary(1)|central_nervous_system(1)	2						GGTATGGCCTGCTCGCTGCTG	0.632													A	85890528	G	A	85890528	4	1	11	1	0	0	0	0	0	1	0	0	14191	1328	46	2	214	2	SFTPB	2	85890528	Nonsense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	61483	85890528	157308845	139	8978											
POLR1A	25885	broad.mit.edu	37	chr2	86305040	86305040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcagatgactgagcgcGcagcgtagtccactcgcttt	13	12	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:86305040G>A	uc002sqs.2	-	11	1701	c.1322C>T	c.(1321-1323)GCG>GTG	p.A441V		NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	441					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						GACTGAGCGCGCAGCGTAGTC	0.353													A	86305040	G	A	86305040	3	1	11	1	0	0	0	0	1	0	0	0	12209	1087	38	1	3936	1	POLR1A	2	86305040	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	414512	86305040	156894333	140	8979											
VPS24	51652	broad.mit.edu	37	chr2	86756342	86756342	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaggtaagtgcagccttaccGagctggttcttcatccccat	9	12	2	0	rs140980165		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:86756342G>T	uc002srj.2	-	3	414	c.285C>A	c.(283-285)CTC>CTA	p.L95L	VPS24_uc002srk.2_Silent_p.L29L|VPS24_uc002srl.2_Intron|VPS24_uc010ytl.1_Silent_p.L124L	NM_016079	NP_057163	Q9Y3E7	CHMP3_HUMAN	vacuolar protein sorting 24 isoform 1	95	Intramolecular interaction with C- terminus.				cell cycle|cell division|cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			central_nervous_system(1)	1						CAGCCTTACCGAGCTGGTTCT	0.468													T	86756342	G	T	86756342	2	4	11	1	0	0	0	0	0	0	0	1	17192	1072	37	5		5	VPS24	2	86756342	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	451302	86756342	156443031	141	8980											
ZNF514	84874	broad.mit.edu	37	chr2	95818899	95818899	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaatggccaagttcctgaAgttctccagcatcacctccc	7	15	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:95818899A>C	uc002sue.1	-	3	474	c.100T>G	c.(100-102)TTC>GTC	p.F34V	ZNF514_uc002sud.1_Missense_Mutation_p.F107V	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	zinc finger protein 514	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAGTTCCTGAAGTTCTCCAGC	0.532													C	95818899	A	C	95818899	3	2	11	1	0	0	0	0	1	0	0	0	17956	72	3	5	1114	5	ZNF514	2	95818899	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	9062557	95818899	147380474	142	8981											
PROM2	150696	broad.mit.edu	37	chr2	95947910	95947910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgcaaggaaggggcagCgctctggacagtcctgcagc	16	11	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:95947910C>T	uc002suh.1	+	14	1797	c.1664C>T	c.(1663-1665)GCG>GTG	p.A555V	PROM2_uc002sui.2_Missense_Mutation_p.A555V|PROM2_uc002suj.2_Missense_Mutation_p.A209V|PROM2_uc002suk.2_Missense_Mutation_p.A555V|PROM2_uc002sul.2_Missense_Mutation_p.A81V|PROM2_uc002sum.2_RNA	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	555	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1						GAAGGGGCAGCGCTCTGGACA	0.627													T	95947910	C	T	95947910	3	4	11	1	0	0	0	0	1	0	0	0	12556	768	27	1	1718	1	PROM2	2	95947910	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	129011	95947910	147251463	143	8982											
SNRNP200	23020	broad.mit.edu	37	chr2	96956091	96956091	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctggacatttcctagcacGatttctgcattgagcatgtc	8	10	2	1	rs138641050		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:96956091G>A	uc002svu.2	-	20	2801	c.2715C>T	c.(2713-2715)ATC>ATT	p.I905I	SNRNP200_uc002svw.1_5'Flank	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	905	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.I905I(1)		ovary(5)|skin(4)|large_intestine(1)	10						TTCCTAGCACGATTTCTGCAT	0.512													A	96956091	G	A	96956091	2	1	11	1	0	0	0	0	0	0	0	1	14852	1048	37	1		1	SNRNP200	2	96956091	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1008181	96956091	146243282	144	8983											
ANKRD23	200539	broad.mit.edu	37	chr2	97507821	97507822	+	Frame_Shift_Ins	INS	-	-	G													ccaggggctcaggtttcctgINSggggggactctgtgtctcag							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:97507820_97507821T>TG	uc002sxa.3	-	2	305_306	c.276_277A>CA	c.(274-279)cccaggfs	p.P92fs	ANKRD23_uc002sxb.3_Non-coding_Transcript|ANKRD23_uc002sxc.3_Frame_Shift_Ins_p.P92fs	NM_144994	NP_659431	Q86SG2	ANR23_HUMAN	Homo sapiens ankyrin repeat domain 23 (ANKRD23), mRNA.	92						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TCAGGTTTCCTGGGGGGGACTC	0.53													G	97507822	-	G	97507821	7	5	11	1	0	1	1	0	0	0	0	0	652	1335	47	0	669	0	ANKRD23	2	97507821	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	551730	97507821	145691552	145	8984											
ZAP70	7535	broad.mit.edu	37	chr2	98351166	98351166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcgccagggcgtgtaccGcatgcgcaagtatggccgcc	15	13	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:98351166G>A	uc002syd.1	+	9	1280	c.1073G>A	c.(1072-1074)CGC>CAC	p.R358H	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.R248H|ZAP70_uc002syf.1_Missense_Mutation_p.R51H	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	358	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						GGCGTGTACCGCATGCGCAAG	0.637													A	98351166	G	A	98351166	3	1	11	1	0	0	0	0	1	0	0	0	17511	1087	38	1	1099	1	ZAP70	2	98351166	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	843345	98351166	144848207	146	8985											
TMEM131	23505	broad.mit.edu	37	chr2	98475776	98475777	+	Frame_Shift_Ins	INS	-	-	A													agaaacttaccctattttgaINSaaaaatgatgcatgaaaatg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:98475775_98475776G>GA	uc002syh.4	-	4	703_704	c.474_475C>TC	c.(472-477)tttcaafs	p.F158fs	TMEM131_uc010yvg.1_Non-coding_Transcript	NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	158						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ACCCTATTTTGAAAAAATGATG	0.297													A	98475777	-	A	98475776	7	5	11	1	0	1	1	0	0	0	0	0	16041	243	9	0	5325	0	TMEM131	2	98475776	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	124610	98475776	144723597	147	8986											
TSGA10	80705	broad.mit.edu	37	chr2	99721883	99721883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgagccttctcattaaatGctgtctcttgagcaatctga	9	9	3	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:99721883G>A	uc002szg.3	-	7	1026	c.398C>T	c.(397-399)GCA>GTA	p.A133V	TSGA10_uc002szh.3_Missense_Mutation_p.A133V|TSGA10_uc002szi.3_Missense_Mutation_p.A133V|TSGA10_uc010fin.1_Missense_Mutation_p.A133V|TSGA10_uc010yvn.1_Missense_Mutation_p.A133V	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	133					spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2						CTCATTAAATGCTGTCTCTTG	0.308													A	99721883	G	A	99721883	3	1	11	1	0	0	0	0	1	0	0	0	16614	1319	46	2	1750	2	TSGA10	2	99721883	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1246107	99721883	143477490	148	8987											
TBC1D8	11138	broad.mit.edu	37	chr2	101624428	101624428	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactaatgactgttcagtcAgaagtgaagctaaaatatgt	9	5	2	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:101624428A>G	uc010fiv.2	-	20	3409	c.3278T>C	c.(3277-3279)CTG>CCG	p.L1093P	RPL31_uc010yvu.1_Intron|RPL31_uc010yvv.1_Intron|RPL31_uc010fiu.1_Intron|TBC1D8_uc002tau.3_Missense_Mutation_p.L850P	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	1093					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3						CTGTTCAGTCAGAAGTGAAGC	0.433													G	101624428	A	G	101624428	3	3	11	1	0	0	0	0	1	0	0	0	15622	188	7	3	148	3	TBC1D8	2	101624428	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	1902545	101624428	141574945	149	8988											
GCC2	9648	broad.mit.edu	37	chr2	109088197	109088197	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaacctggcttttcagcgTgatgaaaaagtattagagtt	10	6	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:109088197T>C	uc002tec.2	+	6	2566	c.2412T>C	c.(2410-2412)CGT>CGC	p.R804R	GCC2_uc002ted.2_Silent_p.R703R	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	804	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						CTTTTCAGCGTGATGAAAAAG	0.378													C	109088197	T	C	109088197	2	2	11	1	0	0	0	0	0	0	0	1	6286	1683	59	3		3	GCC2	2	109088197	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	7463769	109088197	134111176	150	8989											
RANBP2	5903	broad.mit.edu	37	chr2	109380502	109380502	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggatgatgatgatgacggTcctcactttgagcctgtagt	14	7	1	5			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:109380502T>C	uc002tem.3	+	20	3633	c.3507T>C	c.(3505-3507)GGT>GGC	p.G1169G		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1169					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						ATGATGACGGTCCTCACTTTG	0.438													C	109380502	T	C	109380502	2	2	11	1	0	0	0	0	0	0	0	1	13028	1654	58	3		3	RANBP2	2	109380502	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	292305	109380502	133818871	151	8990											
CCDC93	54520	broad.mit.edu	37	chr2	118764370	118764370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagttgcaagtggtgataCaccaagtcattcctcctact	7	11	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:118764370C>T	uc002tlj.2	-	3	305	c.179G>A	c.(178-180)TGT>TAT	p.C60Y	CCDC93_uc010fld.1_Missense_Mutation_p.C60Y	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	60										large_intestine(1)|ovary(1)	2						AGTGGTGATACACCAAGTCAT	0.348													T	118764370	C	T	118764370	3	4	11	1	0	0	0	0	1	0	0	0	2872	478	17	4	1804	4	CCDC93	2	118764370	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	9383868	118764370	124435003	152	8991											
GLI2	2736	broad.mit.edu	37	chr2	121747109	121747109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgcagccacacctgcagCcccgcagcggagccccctcc	10	22	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:121747109C>T	uc010flp.2	+	13	3649	c.3619C>T	c.(3619-3621)CCC>TCC	p.P1207S	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.P879S|GLI2_uc002tmu.3_Missense_Mutation_p.P862S	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1207					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				ACACCTGCAGCCCCGCAGCGG	0.667													T	121747109	C	T	121747109	3	4	11	1	0	0	0	0	1	0	0	0	6438	739	26	2	3669	2	GLI2	2	121747109	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2982739	121747109	121452264	153	8992											
MKI67IP	84365	broad.mit.edu	37	chr2	122494356	122494356	+	Frame_Shift_Del	DEL	T	T	-													tgcgaacctgcgccacctccTtttgaaactcgacatcttcc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:122494355_122494355CT>C	uc002tnk.3	-	0	149	c.72_72AG>G	c.(70-72)aagfs	p.K24fs	MKI67IP_uc010fls.3_Frame_Shift_Del_p.K24fs	NM_032390	NP_115766	Q9BYG3	MK67I_HUMAN	Homo sapiens MKI67 (FHA domain) interacting nucleolar phosphoprotein (MKI67IP), mRNA.	24					protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						GCGCCACCTCCTTTTGAAACT	0.627													-	122494356	T	-	122494356	7	5	11	1	0	1	0	1	0	0	0	0	9599	1609	56	0	838	0	MKI67IP	2	122494356	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	747247	122494356	120705017	154	8993											
R3HDM1	23518	broad.mit.edu	37	chr2	136481597	136481597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggaactctttaaaattgGcgccaagatccggtggctcc	12	10	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:136481597G>A	uc002tuo.2	+	26	3405	c.3035G>A	c.(3034-3036)GGC>GAC	p.G1012D	R3HDM1_uc010fni.2_Missense_Mutation_p.G1011D|R3HDM1_uc002tup.2_Missense_Mutation_p.G957D|R3HDM1_uc010zbh.1_Missense_Mutation_p.G760D	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	1012							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		TTTAAAATTGGCGCCAAGATC	0.512													A	136481597	G	A	136481597	3	1	11	1	0	0	0	0	1	0	0	0	12887	1203	42	2	3129	2	R3HDM1	2	136481597	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	13987241	136481597	106717776	155	8994											
LCT	3938	broad.mit.edu	37	chr2	136566593	136566593	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcctgtatttctcatcGtacgtgtgatagactctggc	9	11	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:136566593G>A	uc002tuu.1	-	8	3335	c.3324C>T	c.(3322-3324)TAC>TAT	p.Y1108Y		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1108	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATTTCTCATCGTACGTGTGAT	0.582													A	136566593	G	A	136566593	2	1	11	1	0	0	0	0	0	0	0	1	8693	1140	40	1		1	LCT	2	136566593	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	84996	136566593	106632780	156	8995											
MCM6	4175	broad.mit.edu	37	chr2	136614442	136614442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaaatggacgtccgggcGttcagagtagcctgaccaca	12	12	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:136614442G>A	uc002tuw.2	-	11	1558	c.1482C>T	c.(1480-1482)AAC>AAT	p.N494N		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	494	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	ACGTCCGGGCGTTCAGAGTAG	0.294													A	136614442	G	A	136614442	2	1	11	1	0	0	0	0	0	0	0	1	9391	1136	40	1		1	MCM6	2	136614442	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	47849	136614442	106584931	157	8996											
LRP1B	53353	broad.mit.edu	37	chr2	141130589	141130589	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttttacctggctcacagcTtttctcatcttccccatatt	3	15	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:141130589T>G	uc002tvj.1	-	69	11728	c.10756A>C	c.(10756-10758)AGC>CGC	p.S3586R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3586	Extracellular (Potential).|LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCTCACAGCTTTTCTCATCT	0.368										TSP Lung(27;0.18)			G	141130589	T	G	141130589	3	3	11	1	0	0	0	0	1	0	0	0	8955	1609	56	5	3135	5	LRP1B	2	141130589	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	4516147	141130589	102068784	158	8997											
LRP1B	53353	broad.mit.edu	37	chr2	141272329	141272329	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacaagcaaattggttccaaGagcaagaagaatctaggaaa	9	6	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:141272329G>T	uc002tvj.1	-	51	9134	c.8162C>A	c.(8161-8163)TCT>TAT	p.S2721Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2721	Extracellular (Potential).|LDL-receptor class A 16.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGGTTCCAAGAGCAAGAAGA	0.303										TSP Lung(27;0.18)			T	141272329	G	T	141272329	3	4	11	1	0	0	0	0	1	0	0	0	8955	942	33	5	5801	5	LRP1B	2	141272329	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	141740	141272329	101927044	159	8998											
MBD5	55777	broad.mit.edu	37	chr2	149247765	149247765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactgtggaaagatgtgcaCacataaatgggaatagacct	10	7	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:149247765C>T	uc002twm.3	+	12	4853	c.3865C>T	c.(3865-3867)CAC>TAC	p.H1289Y	MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.H1289Y|MBD5_uc002two.2_Missense_Mutation_p.H547Y|MBD5_uc002twp.2_Missense_Mutation_p.H339Y	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1289						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AAGATGTGCACACATAAATGG	0.428													T	149247765	C	T	149247765	3	4	11	1	0	0	0	0	1	0	0	0	9347	478	17	4	3891	4	MBD5	2	149247765	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	7975436	149247765	93951608	160	8999											
RIF1	55183	broad.mit.edu	37	chr2	152320331	152320331	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtctaccactgaaagccaaGataaggaaaatagtcatcaa	7	8	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:152320331G>T	uc002txm.2	+	30	4427	c.4297G>T	c.(4297-4299)GAT>TAT	p.D1433Y	RIF1_uc002txl.2_Missense_Mutation_p.D1433Y|RIF1_uc002txn.2_Missense_Mutation_p.D1433Y|RIF1_uc002txo.2_Missense_Mutation_p.D1433Y|RIF1_uc002txp.2_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1433					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGAAAGCCAAGATAAGGAAAA	0.383													T	152320331	G	T	152320331	3	4	11	1	0	0	0	0	1	0	0	0	13359	942	33	5	4411	5	RIF1	2	152320331	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3072566	152320331	90879042	161	9000											
FMNL2	114793	broad.mit.edu	37	chr2	153471416	153471416	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagtccagatccaggcttacCtggacaatgtttttgatgta	9	8	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:153471416C>A	uc002tye.2	+	12	1481	c.1114C>A	c.(1114-1116)CTG>ATG	p.L372M		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	372	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3						CCAGGCTTACCTGGACAATGT	0.428													A	153471416	C	A	153471416	3	1	11	1	0	0	0	0	1	0	0	0	5952	680	24	5	1160	5	FMNL2	2	153471416	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1151085	153471416	89727957	162	9001											
RPRM	56475	broad.mit.edu	37	chr2	154334842	154334842	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccctcggacttgatgagcaGattgcagccgaggaagaaga	14	9	0	5			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:154334842G>A	uc002tyq.1	-	1	481	c.238C>T	c.(238-240)CTG>TTG	p.L80L		NM_019845	NP_062819	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependant G2 arrest mediator	80					cell cycle arrest	cytoplasm|integral to membrane	protein binding				0						TTGATGAGCAGATTGCAGCCG	0.607													A	154334842	G	A	154334842	2	1	11	1	0	0	0	0	0	0	0	1	13618	933	33	4		4	RPRM	2	154334842	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	863426	154334842	88864531	163	9002											
GALNT13	114805	broad.mit.edu	37	chr2	155252628	155252628	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagatcccaagacgttatTactcacttggtgaggtatga	9	10	1	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:155252628T>C	uc002tyr.3	+	10	1849	c.1282T>C	c.(1282-1284)TAC>CAC	p.Y428H	GALNT13_uc002tyt.3_Missense_Mutation_p.Y428H|GALNT13_uc010foc.1_Missense_Mutation_p.Y247H|GALNT13_uc010fod.2_Missense_Mutation_p.Y181H	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	428	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						AAGACGTTATTACTCACTTGG	0.338													C	155252628	T	C	155252628	3	2	11	1	0	0	0	0	1	0	0	0	6211	1754	61	3	1312	3	GALNT13	2	155252628	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	917786	155252628	87946745	164	9003											
TANC1	85461	broad.mit.edu	37	chr2	159922470	159922470	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagagggaggaaagggaggCaagaaggaagcaggtatgtg	20	3	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:159922470C>T	uc002uag.2	+	3	322	c.48C>T	c.(46-48)GGC>GGT	p.G16G	TANC1_uc010fol.1_Silent_p.G16G|TANC1_uc010zcm.1_Silent_p.G16G|TANC1_uc010fom.1_Silent_p.G16G	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	16						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						GAAAGGGAGGCAAGAAGGAAG	0.488													T	159922470	C	T	159922470	2	4	11	1	0	0	0	0	0	0	0	1	15541	697	25	2		2	TANC1	2	159922470	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	4669842	159922470	83276903	165	9004											
TTC21B	79809	broad.mit.edu	37	chr2	166747442	166747442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaaaatcttgggacatcctCgagttttccacatcttctta	6	10	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:166747442C>T	uc002udk.2	-	23	3140	c.3007G>A	c.(3007-3009)GAG>AAG	p.E1003K	TTC21B_uc002udj.1_RNA	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1003						cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						GGGACATCCTCGAGTTTTCCA	0.348													T	166747442	C	T	166747442	3	4	11	1	0	0	0	0	1	0	0	0	16685	893	31	1	971	1	TTC21B	2	166747442	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	6824972	166747442	76451931	166	9005											
SCN9A	6335	broad.mit.edu	37	chr2	167133718	167133718	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaccaaagagctgcatgccGaccacagcaaaaatgaagac	8	11	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:167133718G>A	uc010fpl.2	-	16	2957	c.2616C>T	c.(2614-2616)GTC>GTT	p.V872V	uc002udp.2_RNA	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	883	II.|Helical; Name=S5 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)	GCTGCATGCCGACCACAGCAA	0.463													A	167133718	G	A	167133718	2	1	11	1	0	0	0	0	0	0	0	1	13925	1045	37	1		1	SCN9A	2	167133718	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	386276	167133718	76065655	167	9006											
LRP2	4036	broad.mit.edu	37	chr2	170127462	170127462	+	Frame_Shift_Del	DEL	A	A	-													catgtgttttgacatatctgAaaaaaagatagtgctgtcct							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:170127461_170127461GA>G	uc002ues.3	-	15	2486	c.2273_2273TC>C	c.(2272-2274)tcafs	p.S758fs	LRP2_uc010zdf.1_Intron	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	758					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGACATATCTGAAAAAAAGAT	0.418													-	170127462	A	-	170127462	7	5	11	1	0	1	0	1	0	0	0	0	8956	246	9	0	11951	0	LRP2	2	170127462	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	2993744	170127462	73071911	168	9007											
CHRNA1	1134	broad.mit.edu	37	chr2	175618367	175618367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtccaggtagggggtgtcGgggcagcaggaataggtcac	18	7	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:175618367G>A	uc002ujd.2	-	7	795	c.717C>T	c.(715-717)CCC>CCT	p.P239P	uc002uiw.2_Intron|CHRNA1_uc002uje.2_Silent_p.P214P|CHRNA1_uc002ujf.3_Silent_p.P214P	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	nicotinic cholinergic receptor alpha 1 isoform a	239	Extracellular.				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(2)|central_nervous_system(1)|skin(1)	4						AGGGGGTGTCGGGGCAGCAGG	0.592													A	175618367	G	A	175618367	2	1	11	1	0	0	0	0	0	0	0	1	3381	1103	39	1		1	CHRNA1	2	175618367	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	5490905	175618367	67581006	169	9008											
OSBPL6	114880	broad.mit.edu	37	chr2	179247806	179247806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgggcgtcgagcatgcctGccagctccttgtcctgacac	11	14	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:179247806G>A	uc002ulx.2	+	17	2055	c.1677G>A	c.(1675-1677)CTG>CTA	p.L559L	OSBPL6_uc002uly.2_Silent_p.L584L|OSBPL6_uc010zfe.1_Silent_p.L528L|OSBPL6_uc002ulz.2_Silent_p.L523L|OSBPL6_uc002uma.2_Silent_p.L563L	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	559					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GAGCATGCCTGCCAGCTCCTT	0.493													A	179247806	G	A	179247806	2	1	11	1	0	0	0	0	0	0	0	1	11281	1306	46	2		2	OSBPL6	2	179247806	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3629439	179247806	63951567	170	9009											
TTN	7273	broad.mit.edu	37	chr2	179645895	179645895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtttctccatgcttattgCgaacaacaatagtgtattct	6	8	2	0	rs149883066		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:179645895C>T	uc010zfg.1	-	21	3700	c.3476G>A	c.(3475-3477)CGC>CAC	p.R1159H	TTN_uc010zfh.1_Missense_Mutation_p.R1113H|TTN_uc010zfi.1_Missense_Mutation_p.R1113H|TTN_uc010zfj.1_Missense_Mutation_p.R1113H|TTN_uc002unb.2_Missense_Mutation_p.R1159H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1159							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCTTATTGCGAACAACAAT	0.388													T	179645895	C	T	179645895	3	4	11	1	0	0	0	0	1	0	0	0	16732	768	27	1	107880	1	TTN	2	179645895	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	398089	179645895	63553478	171	9010											
WDR75	84128	broad.mit.edu	37	chr2	190320086	190320086	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaactgccaaaatcctcAagccaggaagtagaagccaa	9	10	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:190320086A>G	uc002uql.1	+	5	474	c.414A>G	c.(412-414)TCA>TCG	p.S138S	WDR75_uc002uqm.1_Silent_p.S74S|WDR75_uc002uqn.1_5'UTR|WDR75_uc002uqo.1_5'Flank	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	138						nucleolus				ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			CAAAATCCTCAAGCCAGGAAG	0.388													G	190320086	A	G	190320086	2	3	11	1	0	0	0	0	0	0	0	1	17322	117	5	3		3	WDR75	2	190320086	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	10674191	190320086	52879287	172	9011											
WDR75	84128	broad.mit.edu	37	chr2	190329974	190329974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggatgtataataagaaaaCacaagggtaatactatctgt	9	4	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:190329974C>T	uc002uql.1	+	12	1343	c.1283C>T	c.(1282-1284)ACA>ATA	p.T428I	WDR75_uc002uqm.1_Missense_Mutation_p.T364I|WDR75_uc002uqn.1_Missense_Mutation_p.T206I|WDR75_uc002uqo.1_Missense_Mutation_p.T206I	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	428						nucleolus				ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AATAAGAAAACACAAGGGTAA	0.348													T	190329974	C	T	190329974	3	4	11	1	0	0	0	0	1	0	0	0	17322	478	17	4	1329	4	WDR75	2	190329974	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	9888	190329974	52869399	173	9012											
NAB1	4664	broad.mit.edu	37	chr2	191524622	191524622	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatctttgagatgaacgaTgatgatccacacaaagagga	9	8	1	5			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:191524622T>C	uc002usb.2	+	4	1292	c.720T>C	c.(718-720)GAT>GAC	p.D240D	NAB1_uc010fsc.2_Silent_p.D240D|NAB1_uc010fsd.2_Silent_p.D240D|NAB1_uc002usc.2_Silent_p.D240D|NAB1_uc010zgh.1_Silent_p.D240D	NM_005966	NP_005957	Q13506	NAB1_HUMAN	NGFI-A binding protein 1	240	NCD2.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			AGATGAACGATGATGATCCAC	0.418													C	191524622	T	C	191524622	2	2	11	1	0	0	0	0	0	0	0	1	10131	1461	51	3		3	NAB1	2	191524622	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	1194648	191524622	51674751	174	9013											
SF3B1	23451	broad.mit.edu	37	chr2	198262811	198262811	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcaaagcaaatcctcatcCactctcttgcagatacatat	4	13	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:198262811C>A	uc002uue.2	-	22	3212	c.3164G>T	c.(3163-3165)TGG>TTG	p.W1055L		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	1055	HEAT 9.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AATCCTCATCCACTCTCTTGC	0.333													A	198262811	C	A	198262811	3	1	11	1	0	0	0	0	1	0	0	0	14149	595	21	5	766	5	SF3B1	2	198262811	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	6738189	198262811	44936562	175	9014											
BZW1	9689	broad.mit.edu	37	chr2	201681849	201681849	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgttcttgaagggTttttcagagtcggagaggaa	14	6	2	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:201681849T>G	uc010zhg.1	+	6	571	c.519T>G	c.(517-519)GGT>GGG	p.G173G	BZW1_uc002uwc.2_Silent_p.G141G|BZW1_uc010zhh.1_Silent_p.G141G	NM_014670	NP_055485	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding				0						TCTTGAAGGGTTTTTCAGAGT	0.373													G	201681849	T	G	201681849	2	3	11	1	0	0	0	0	0	0	0	1	1578	1712	60	5		5	BZW1	2	201681849	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	3419038	201681849	41517524	176	9015											
WDR12	55759	broad.mit.edu	37	chr2	203745590	203745590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttattgttcactttcatgccCcaacatgggaagtggtaggt	10	8	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:203745590C>T	uc002uzl.2	-	13	2015	c.1265G>A	c.(1264-1266)GGG>GAG	p.G422E	WDR12_uc010ftt.2_3'UTR	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	WD repeat domain 12 protein	422	Sufficient for nucleolar localization.|WD 7.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						CTTTCATGCCCCAACATGGGA	0.368													T	203745590	C	T	203745590	3	4	11	1	0	0	0	0	1	0	0	0	17271	623	22	4	10	4	WDR12	2	203745590	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2063741	203745590	39453783	177	9016											
CYP20A1	57404	broad.mit.edu	37	chr2	204150380	204150380	+	Frame_Shift_Del	DEL	A	A	-													aaccacctctgaagaagttcAaaaaaaattatatgaagaga							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:204150379_204150379CA>C	uc010zif.2	+	8	1541	c.919_919CA>C	c.(919-921)caafs	p.Q307fs	CYP20A1_uc002uzv.4_Frame_Shift_Del_p.Q299fs|CYP20A1_uc002uzx.4_Frame_Shift_Del_p.Q197fs|CYP20A1_uc002uzy.4_Frame_Shift_Del_p.Q197fs|CYP20A1_uc002uzw.4_Non-coding_Transcript|CYP20A1_uc010ftw.3_Frame_Shift_Del_p.Q29fs	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	Homo sapiens cytochrome P450, family 20, subfamily A, polypeptide 1 (CYP20A1), mRNA.	299						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						TGAAGAAGTTCAAAAAAAATT	0.348													-	204150380	A	-	204150380	7	5	11	1	0	1	0	1	0	0	0	0	4152	130	5	0	930	0	CYP20A1	2	204150380	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	404790	204150380	39048993	178	9017											
PIKFYVE	200576	broad.mit.edu	37	chr2	209198113	209198113	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccttgaacttaggttttaTgggcaccagtatactcgcag	9	9	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:209198113T>C	uc002vcz.2	+	24	4196	c.4038T>C	c.(4036-4038)TAT>TAC	p.Y1346Y	PIKFYVE_uc002vcy.1_Silent_p.Y1290Y	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1346					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						TTAGGTTTTATGGGCACCAGT	0.438													C	209198113	T	C	209198113	2	2	11	1	0	0	0	0	0	0	0	1	11924	1471	51	3		3	PIKFYVE	2	209198113	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	5047733	209198113	34001260	179	9018											
MAP2	4133	broad.mit.edu	37	chr2	210560646	210560646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatgataaactgctcttccGctcagacacccttcagataa	5	12	3	3	rs142649637	by1000genomes	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:210560646G>A	uc002vde.1	+	7	4000	c.3752G>A	c.(3751-3753)CGC>CAC	p.R1251H	MAP2_uc002vdc.1_Missense_Mutation_p.R1251H|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.R1247H	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1251					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CTGCTCTTCCGCTCAGACACC	0.488													A	210560646	G	A	210560646	3	1	11	1	0	0	0	0	1	0	0	0	9235	1087	38	1	3766	1	MAP2	2	210560646	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1362533	210560646	32638727	180	9019											
ERBB4	2066	broad.mit.edu	37	chr2	212251610	212251610	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcgcataggagtcatgTaaccttcctcatccagctct	7	13	4	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:212251610T>C	uc002veg.1	-	27	3547	c.3449A>G	c.(3448-3450)TAC>TGC	p.Y1150C	ERBB4_uc002veh.1_Missense_Mutation_p.Y1134C|ERBB4_uc010zji.1_Missense_Mutation_p.Y1140C|ERBB4_uc010zjj.1_Missense_Mutation_p.Y1124C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1150	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AGGAGTCATGTAACCTTCCTC	0.498										TSP Lung(8;0.080)			C	212251610	T	C	212251610	3	2	11	1	0	0	0	0	1	0	0	0	5209	1638	57	3	485	3	ERBB4	2	212251610	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	1690964	212251610	30947763	181	9020											
ERBB4	2066	broad.mit.edu	37	chr2	213403254	213403254	+	Frame_Shift_Del	DEL	T	T	-													aagtcctgtcgccggcttcaTtttttggaagtctcagatcc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:213403253_213403253AT>A	uc002veg.1	-	0	100	c.2_2AT>T	c.(1-3)atgfs	p.M1fs	ERBB4_uc002veh.1_Frame_Shift_Del_p.M1fs|ERBB4_uc010zji.1_Frame_Shift_Del_p.M1fs|ERBB4_uc010zjj.1_Frame_Shift_Del_p.M1fs|ERBB4_uc010fut.1_Frame_Shift_Del_p.M1fs	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	1					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CGCCGGCTTCATTTTTTGGAA	0.612										TSP Lung(8;0.080)			-	213403254	T	-	213403254	7	5	11	1	0	1	0	1	0	0	0	0	5209	1493	52	0	4037	0	ERBB4	2	213403254	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	1151644	213403254	29796119	182	9021											
ABCA12	26154	broad.mit.edu	37	chr2	215823125	215823125	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caaagctggcggtggtgacaGagtagcccatcaagatagac	13	9	1	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:215823125G>A	uc002vew.2	-	41	6213	c.5993C>T	c.(5992-5994)TCT>TTT	p.S1998F	ABCA12_uc002vev.2_Missense_Mutation_p.S1680F|ABCA12_uc010zjn.1_Missense_Mutation_p.S925F	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1998	Helical; (Potential).				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGTGGTGACAGAGTAGCCCAT	0.438													A	215823125	G	A	215823125	3	1	11	1	0	0	0	0	1	0	0	0	30	942	33	4	1846	4	ABCA12	2	215823125	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2419871	215823125	27376248	183	9022											
FN1	2335	broad.mit.edu	37	chr2	216236932	216236932	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcaaagatcatttgttgCccaacactgggttgctgacc	8	12	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:216236932C>A	uc002vfa.2	-	40	6680	c.6414G>T	c.(6412-6414)GGG>GGT	p.G2138G	FN1_uc002vfb.2_Silent_p.G1957G|FN1_uc002vfc.2_Silent_p.G1932G|FN1_uc002vfd.2_Silent_p.G2113G|FN1_uc002vfe.2_Silent_p.G2047G|FN1_uc002vff.2_Silent_p.G2022G|FN1_uc002vfg.2_Silent_p.G1957G|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Silent_p.G2138G|FN1_uc002vfj.2_Intron|FN1_uc002vez.2_Silent_p.G332G|FN1_uc010zjp.1_Silent_p.G675G|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_Intron|FN1_uc010fvb.1_Intron|FN1_uc010fvc.1_Intron|FN1_uc010fvd.1_Silent_p.G229G	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	2047	Connecting strand 3 (CS-3) (V region).				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCATTTGTTGCCCAACACTGG	0.532													A	216236932	C	A	216236932	2	1	11	1	0	0	0	0	0	0	0	1	5962	726	26	5		5	FN1	2	216236932	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	413807	216236932	26962441	184	9023											
FN1	2335	broad.mit.edu	37	chr2	216249629	216249629	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatctcactgtgacagcaggAgcatcccagctgatcagtag	10	11	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:216249629A>G	uc002vfa.2	-	29	4949	c.4683T>C	c.(4681-4683)GCT>GCC	p.A1561A	FN1_uc002vfb.2_Silent_p.A1470A|FN1_uc002vfc.2_Silent_p.A1470A|FN1_uc002vfd.2_Silent_p.A1561A|FN1_uc002vfe.2_Silent_p.A1470A|FN1_uc002vff.2_Silent_p.A1470A|FN1_uc002vfg.2_Silent_p.A1470A|FN1_uc002vfh.2_Silent_p.A1470A|FN1_uc002vfi.2_Silent_p.A1561A|FN1_uc002vfj.2_Silent_p.A1561A|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Silent_p.A188A|FN1_uc010fvc.1_5'Flank|FN1_uc010fvd.1_5'Flank	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGACAGCAGGAGCATCCCAGC	0.448													G	216249629	A	G	216249629	2	3	11	1	0	0	0	0	0	0	0	1	5962	291	11	3		3	FN1	2	216249629	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	12697	216249629	26949744	185	9024											
TMEM169	92691	broad.mit.edu	37	chr2	216960851	216960851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaatccatcatcatctaCcgctcagacaatgagaaaac	5	13	4	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:216960851C>T	uc010zjr.1	+	3	491	c.165C>T	c.(163-165)TAC>TAT	p.Y55Y	TMEM169_uc010zjs.1_Silent_p.Y55Y|TMEM169_uc002vfw.2_Silent_p.Y55Y|TMEM169_uc002vfv.3_Silent_p.Y55Y	NM_001142310	NP_001135782	Q96HH4	TM169_HUMAN	transmembrane protein 169	55	Extracellular (Potential).					integral to membrane				ovary(1)	1		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATCATCTACCGCTCAGACA	0.527													T	216960851	C	T	216960851	2	4	11	1	0	0	0	0	0	0	0	1	16081	518	18	4		4	TMEM169	2	216960851	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	711222	216960851	26238522	186	9025											
XRCC5	7520	broad.mit.edu	37	chr2	216992311	216992311	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agttgtggatgcaaaaacccTaaaaaaagaagatatacaaa	7	5	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:216992311T>A	uc002vfy.2	+	8	991	c.851T>A	c.(850-852)CTA>CAA	p.L284Q	XRCC5_uc002vfz.2_Missense_Mutation_p.L170Q	NM_021141	NP_066964	P13010	XRCC5_HUMAN	ATP-dependent DNA helicase II	284	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			lung(1)|kidney(1)	2		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GCAAAAACCCTAAAAAAAGAA	0.313								Direct_reversal_of_damage|NHEJ					A	216992311	T	A	216992311	3	1	11	1	0	0	0	0	1	0	0	0	17453	1522	53	5	881	5	XRCC5	2	216992311	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	31460	216992311	26207062	187	9026											
NHEJ1	79840	broad.mit.edu	37	chr2	219941148	219941148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcttgacctttgacagCtgaggtctctgcagagggcc	11	12	2	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:219941148C>T	uc002vjp.3	-	8	1001	c.855G>A	c.(853-855)CAG>CAA	p.Q285Q	NHEJ1_uc002vjq.3_RNA	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	285					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			lung(1)	1		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		CCTTTGACAGCTGAGGTCTCT	0.468								Direct_reversal_of_damage|NHEJ					T	219941148	C	T	219941148	2	4	11	1	0	0	0	0	0	0	0	1	10402	796	28	2		2	NHEJ1	2	219941148	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2948837	219941148	23258225	188	9027											
PAX3	5077	broad.mit.edu	37	chr2	223086050	223086050	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgagatggttgaaagccatCagttgattggccccagcttg	12	8	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:223086050C>T	uc010fwo.2	-	6	1215	c.849G>A	c.(847-849)CTG>CTA	p.L283L	PAX3_uc002vmt.1_Silent_p.L283L|PAX3_uc002vmy.1_Silent_p.L282L|PAX3_uc002vmv.1_Silent_p.L283L|PAX3_uc002vmw.1_Silent_p.L283L|PAX3_uc002vmx.1_Silent_p.L283L	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	283					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAAAGCCATCAGTTGATTGG	0.493			T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						T	223086050	C	T	223086050	2	4	11	1	0	0	0	0	0	0	0	1	11480	813	29	4		4	PAX3	2	223086050	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3144902	223086050	20113323	189	9028											
IRS1	3667	broad.mit.edu	37	chr2	227661341	227661341	+	Frame_Shift_Del	DEL	C	C	-													gcaagacatgagagtggtggCcccctaccccgtttgtccac							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:227661340_227661340GC>G	uc021vxn.1	-	0	2115	c.2115_2115GC>C	c.(2113-2115)ggcfs	p.G705fs	IRS1_uc002voh.4_Frame_Shift_Del_p.G705fs	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	705					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.G704R(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GAGAGTGGTGGCCCCCTACCC	0.597											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	227661341	C	-	227661341	7	5	11	1	0	1	0	1	0	0	0	0	7840	739	26	0	1618	0	IRS1	2	227661341	Frame_Shift_Del	DEL	C	TCGA-BR-4256-01A-01D-1126-08	4575291	227661341	15538032	190	9029											
TRIP12	9320	broad.mit.edu	37	chr2	230724116	230724117	+	Frame_Shift_Ins	INS	-	-	T													tatgctgaagtgcttttggtINSttttttgcagagctaggaga							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:230724115_230724116G>GT	uc002vpx.1	-	3	508_509	c.399_400C>AC	c.(397-402)aaaccafs	p.K133fs	TRIP12_uc021vxw.1_Frame_Shift_Ins_p.K91fs|TRIP12_uc002vpy.1_Intron|TRIP12_uc002vpw.1_Frame_Shift_Ins_p.K91fs|TRIP12_uc010zlz.1_Non-coding_Transcript|TRIP12_uc010fxh.1_Frame_Shift_Ins_p.K91fs	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	91					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGTGCTTTTGGTTTTTTTGCAG	0.436													T	230724117	-	T	230724116	7	5	11	1	0	1	1	0	0	0	0	0	16553	1722	60	0	5861	0	TRIP12	2	230724116	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	3062775	230724116	12475257	191	9030											
ARMC9	80210	broad.mit.edu	37	chr2	232156155	232156155	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatcaagcagctaaattcCggtcagtttgatgcaagaat	8	8	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:232156155C>T	uc002vrq.3	+	18	1828	c.1716C>T	c.(1714-1716)TCC>TCT	p.S572S	ARMC9_uc002vrp.3_Silent_p.S572S|ARMC9_uc002vrr.1_RNA	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	572							binding			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		AGCTAAATTCCGGTCAGTTTG	0.378													T	232156155	C	T	232156155	2	4	11	1	0	0	0	0	0	0	0	1	958	666	23	1		1	ARMC9	2	232156155	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1432039	232156155	11043218	192	9031											
ECEL1	9427	broad.mit.edu	37	chr2	233348873	233348873	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtgcctcacggaatggCggggacaggtgttcactcag	15	10	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:233348873C>T	uc002vsv.2	-	7	1450	c.1245G>A	c.(1243-1245)CCG>CCA	p.P415P	ECEL1_uc010fya.1_Silent_p.P415P|ECEL1_uc010fyb.1_Silent_p.P122P	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	415	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	p.P415L(1)		central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CACGGAATGGCGGGGACAGGT	0.647													T	233348873	C	T	233348873	2	4	11	1	0	0	0	0	0	0	0	1	4891	755	27	1		1	ECEL1	2	233348873	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1192718	233348873	9850500	193	9032											
AGAP1	116987	broad.mit.edu	37	chr2	236817445	236817445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccactgtgaaagtcccaGggaagaggccaccccgagcc	12	14	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:236817445G>A	uc002vvs.2	+	11	1814	c.1219G>A	c.(1219-1221)GGG>AGG	p.G407R	AGAP1_uc002vvt.2_Missense_Mutation_p.G407R	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	407	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						GAAAGTCCCAGGGAAGAGGCC	0.473													A	236817445	G	A	236817445	3	1	11	1	0	0	0	0	1	0	0	0	366	1000	35	4	1261	4	AGAP1	2	236817445	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3468572	236817445	6381928	194	9033											
COL6A3	1293	broad.mit.edu	37	chr2	238262045	238262045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggaccgcccttgttgCcctttgaaataagagaagat	11	10	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:238262045C>T	uc002vwl.2	-	25	6914	c.6629G>A	c.(6628-6630)GGC>GAC	p.G2210D	COL6A3_uc002vwo.2_Missense_Mutation_p.G2004D|COL6A3_uc010znj.1_Missense_Mutation_p.G1603D|COL6A3_uc002vwp.1_Missense_Mutation_p.G31D	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2210	Triple-helical region.|Collagen-like 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCCCTTGTTGCCCTTTGAAAT	0.547													T	238262045	C	T	238262045	3	4	11	1	0	0	0	0	1	0	0	0	3701	753	26	2	2984	2	COL6A3	2	238262045	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1444600	238262045	4937328	195	9034											
LRRFIP1	9208	broad.mit.edu	37	chr2	238668757	238668757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctaccaatggagagacttcCgacaccctcaataatgttgg	9	11	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:238668757C>T	uc002vxe.2	+	10	1090	c.798C>T	c.(796-798)TCC>TCT	p.S266S	LRRFIP1_uc002vxc.2_Silent_p.S456S|LRRFIP1_uc010znm.1_Silent_p.S210S|LRRFIP1_uc002vxd.2_Silent_p.S242S|LRRFIP1_uc002vxf.2_Silent_p.S210S	NM_001137552	NP_001131024	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting	266					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			breast(3)	3		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GAGAGACTTCCGACACCCTCA	0.398													T	238668757	C	T	238668757	2	4	11	1	0	0	0	0	0	0	0	1	9027	639	23	1		1	LRRFIP1	2	238668757	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	406712	238668757	4530616	196	9035											
PER2	8864	broad.mit.edu	37	chr2	239162026	239162026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaggtccacgggcacagCaggcactgtgaagctggcgt	16	11	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:239162026C>T	uc002vyc.2	-	19	2875	c.2638G>A	c.(2638-2640)GCT>ACT	p.A880T	PER2_uc010znv.1_Missense_Mutation_p.A880T	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	880	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		ACGGGCACAGCAGGCACTGTG	0.632													T	239162026	C	T	239162026	3	4	11	1	0	0	0	0	1	0	0	0	11730	710	25	2	1149	2	PER2	2	239162026	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	493269	239162026	4037347	197	9036											
MYEOV2	150678	broad.mit.edu	37	chr2	241066248	241066248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgttggtgccacacagcGgatgttctctgcatctggta	11	10	2	0	rs137993079		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:241066248G>A	uc002vyu.1	-	5	491	c.491C>T	c.(490-492)CCG>CTG	p.P164L		NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN	hypothetical protein LOC150678 isoform 1	Error:Variant_position_missing_in_Q8WXC6_after_alignment											0		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		GCCACACAGCGGATGTTCTCT	0.532													A	241066248	G	A	241066248	3	1	11	1	0	0	0	0	1	0	0	0	10026	1116	39	1	271	1	MYEOV2	2	241066248	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1904222	241066248	2133125	198	9037											
HDLBP	3069	broad.mit.edu	37	chr2	242179467	242179467	+	Frame_Shift_Del	DEL	C	C	-													gcaccttgcgaattttgccgCcccccttgccgatgaggaat							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:242179466_242179466GC>G	uc002waz.3	-	17	2414	c.2241_2241GC>C	c.(2239-2241)ggcfs	p.G747fs	HDLBP_uc002wba.3_Frame_Shift_Del_p.G747fs|HDLBP_uc021vzg.1_Frame_Shift_Del_p.G714fs	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	747	KH 9.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GAATTTTGCCGCCCCCCTTGC	0.547													-	242179467	C	-	242179467	7	5	11	1	0	1	0	1	0	0	0	0	7025	739	26	0	1610	0	HDLBP	2	242179467	Frame_Shift_Del	DEL	C	TCGA-BR-4256-01A-01D-1126-08	1113219	242179467	1019906	199	9038											
SRGAP3	9901	broad.mit.edu	37	chr3	9034632	9034632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtaatccgagatgtgctccGtgggggactggaggtcgttt	16	8	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:9034632G>A	uc003brf.1	-	20	3192	c.2516C>T	c.(2515-2517)ACG>ATG	p.T839M	SRGAP3_uc003brg.1_Missense_Mutation_p.T815M	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	839					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GATGTGCTCCGTGGGGGACTG	0.562			T	RAF1	pilocytic astrocytoma								A	9034632	G	A	9034632	3	1	11	1	0	0	0	0	1	0	0	0	15146	1145	40	1	795	1	SRGAP3	3	9034632	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08		9034632	188987798	200	9039											
SETD5	55209	broad.mit.edu	37	chr3	9483295	9483295	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttacagctgggaagagtcActcgtgttcaaaagcaccgg	12	9	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:9483295A>G	uc003brt.2	+	9	1264	c.829A>G	c.(829-831)ACT>GCT	p.T277A	SETD5_uc003brs.1_Missense_Mutation_p.T258A|SETD5_uc003bru.2_Missense_Mutation_p.T179A|SETD5_uc003brv.2_Missense_Mutation_p.T166A|SETD5_uc010hck.2_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.2_5'Flank	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	277	SET.									ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GGGAAGAGTCACTCGTGTTCA	0.398													G	9483295	A	G	9483295	3	3	11	1	0	0	0	0	1	0	0	0	14134	159	6	3	855	3	SETD5	3	9483295	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	448663	9483295	188539135	201	9040											
TATDN2	9797	broad.mit.edu	37	chr3	10312539	10312539	+	Frame_Shift_Del	DEL	G	G	-													gttgaaagaggatctggtctGgggggcctttggctgtcacc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:10312538_10312538TG>T	uc011atr.2	+	3	2253	c.1672_1672TG>T	c.(1672-1674)tggfs	p.W558fs	TATDN2_uc003bvg.2_Frame_Shift_Del_p.W558fs|TATDN2_uc003bvf.3_Frame_Shift_Del_p.W558fs|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	558						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGATCTGGTCTGGGGGGCCTT	0.507													-	10312539	G	-	10312539	7	5	11	1	0	1	0	1	0	0	0	0	15589	1357	47	0	1683	0	TATDN2	3	10312539	Frame_Shift_Del	DEL	G	TCGA-BR-4256-01A-01D-1126-08	829244	10312539	187709891	202	9041											
SLC6A1	6529	broad.mit.edu	37	chr3	11064133	11064133	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtatttctgtatctggaaGggtgttggctggactggaaa	15	4	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:11064133G>T	uc010hdq.2	+	7	1104	c.693G>T	c.(691-693)AAG>AAT	p.K231N		NM_003042	NP_003033	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter	231					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)|skin(1)	2		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GTATCTGGAAGGGTGTTGGCT	0.547													T	11064133	G	T	11064133	3	4	11	1	0	0	0	0	1	0	0	0	14673	991	35	5	711	5	SLC6A1	3	11064133	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	751594	11064133	186958297	203	9042											
C3orf31	132001	broad.mit.edu	37	chr3	11885643	11885643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggttctttgaatgccatgCgacagggtcatctactgtga	11	9	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:11885643C>T	uc003bwh.2	-	2	420	c.178G>A	c.(178-180)GCA>ACA	p.A60T	C3orf31_uc003bwj.2_Missense_Mutation_p.A60T|C3orf31_uc003bwi.2_RNA|C3orf31_uc011auo.1_Missense_Mutation_p.A60T|C3orf31_uc011aup.1_RNA|C3orf31_uc010hdy.1_RNA	NM_138807	NP_620162	Q96BW9	MMP37_HUMAN	MMP37-like protein, mitochondrial precursor	60					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane					0						GAATGCCATGCGACAGGGTCA	0.408													T	11885643	C	T	11885643	3	4	11	1	0	0	0	0	1	0	0	0	2221	768	27	1	796	1	C3orf31	3	11885643	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	821510	11885643	186136787	204	9043											
CAND2	23066	broad.mit.edu	37	chr3	12875478	12875478	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagactcaatggagctcagCtagtcccctcagcaccaagg	9	14	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:12875478C>T	uc003bxk.2	+	15	3757	c.3708C>T	c.(3706-3708)AGC>AGT	p.S1236S	CAND2_uc003bxj.2_Silent_p.S1119S	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	1236	HEAT 26.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						TGGAGCTCAGCTAGTCCCCTC	0.567													T	12875478	C	T	12875478	2	4	11	1	0	0	0	0	0	0	0	1	2616	796	28	2		2	CAND2	3	12875478	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	989835	12875478	185146952	205	9044											
TMEM43	79188	broad.mit.edu	37	chr3	14175292	14175293	+	Frame_Shift_Ins	INS	-	-	G													ccctttgtccaaattggcagINSgtttttcctctcgtcaggta							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:14175291_14175292A>AG	uc003byk.2	+	6	819_820	c.565_566A>AG	c.(565-567)aggfs	p.R189fs	TMEM43_uc003byl.1_Frame_Shift_Ins_p.R69fs	NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	Homo sapiens transmembrane protein 43 (TMEM43), mRNA.	189						Golgi apparatus|endoplasmic reticulum|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						CCAAATTGGCAGGTTTTTCCTC	0.589													G	14175293	-	G	14175292	7	5	11	1	0	1	1	0	0	0	0	0	16164	1000	35	0	592	0	TMEM43	3	14175292	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	1299814	14175292	183847138	206	9045											
C3orf19	51244	broad.mit.edu	37	chr3	14711585	14711585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacatccgggagtgggaccGcggaaaaggtaagggaggtg	18	7	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:14711585G>A	uc003byw.2	+	10	1188	c.1097G>A	c.(1096-1098)CGC>CAC	p.R366H	C3orf19_uc010hej.2_Missense_Mutation_p.R195H	NM_016474	NP_057558	Q6PII3	CC019_HUMAN	hypothetical protein LOC51244	366											0						GAGTGGGACCGCGGAAAAGGT	0.512													A	14711585	G	A	14711585	3	1	11	1	0	0	0	0	1	0	0	0	2212	1087	38	1	1135	1	C3orf19	3	14711585	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	536293	14711585	183310845	207	9046											
ANKRD28	23243	broad.mit.edu	37	chr3	15749455	15749455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctgtgtctgatgtagctGcatagtgcaggggtgtgcag	15	7	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:15749455G>A	uc003caj.1	-	14	1576	c.1433C>T	c.(1432-1434)GCA>GTA	p.A478V	ANKRD28_uc003cai.1_Missense_Mutation_p.A324V|ANKRD28_uc011avz.1_Missense_Mutation_p.A324V|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.A508V|ANKRD28_uc003cam.2_Missense_Mutation_p.A511V	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	478	ANK 14.					nucleoplasm	protein binding			breast(1)	1						TGATGTAGCTGCATAGTGCAG	0.463													A	15749455	G	A	15749455	3	1	11	1	0	0	0	0	1	0	0	0	656	1319	46	2	1788	2	ANKRD28	3	15749455	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1037870	15749455	182272975	208	9047											
KCNH8	131096	broad.mit.edu	37	chr3	19492689	19492689	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgcgttctgacatcactAtgcacttgaacaaggagatc	8	10	2	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:19492689A>G	uc003cbk.1	+	10	1813	c.1618A>G	c.(1618-1620)ATG>GTG	p.M540V	KCNH8_uc011awe.1_3'UTR|KCNH8_uc010hex.1_Missense_Mutation_p.M1V|KCNH8_uc011awf.1_3'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	540	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						TGACATCACTATGCACTTGAA	0.438													G	19492689	A	G	19492689	3	3	11	1	0	0	0	0	1	0	0	0	8038	449	16	3	1656	3	KCNH8	3	19492689	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	3743234	19492689	178529741	209	9048											
KCNH8	131096	broad.mit.edu	37	chr3	19492702	19492704	+	In_Frame_Del	DEL	AGG	AGG	-													catcactatgcacttgaacaAggagatcttacagttgtccc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:19492701_19492703AAGG>A	uc003cbk.1	+	9	1825_1827	c.1630_1632AAGG>A	c.(1630-1632)aag>A	p.K544del	KCNH8_uc011awe.1_3'UTR|KCNH8_uc010hex.1_In_Frame_Del_p.K5del|KCNH8_uc011awf.1_3'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	544						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GCACTTGAACAAGGAGATCTTAC	0.463													-	19492704	AGG	-	19492702	7	5	11	1	0	1	0	1	0	0	0	0	8038	72	3	0	1669	0	KCNH8	3	19492702	In_Frame_Del	DEL	AGG	TCGA-BR-4256-01A-01D-1126-08	13	19492702	178529728	210	9049											
NR1D2	9975	broad.mit.edu	37	chr3	24004097	24004097	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaggaagaatgcatctgGtatagtgaaatcgatttttt	11	4	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:24004097G>A	uc003ccs.2	+	5	1465	c.1146_splice	c.e5+1	p.L382_splice	NR1D2_uc010hfd.2_Splice_Site|NR1D2_uc011awk.1_Splice_Site_p.L307_splice	NM_005126	NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			urinary_tract(1)|kidney(1)|skin(1)	3						AATGCATCTGGTATAGTGAAA	0.373													A	24004097	G	A	24004097	5	1	11	1	0	0	0	0	0	0	1	0	10616	1275	44	4	1165	4	NR1D2	3	24004097	Splice_Site	SNP	G	TCGA-BR-4256-01A-01D-1126-08	4511395	24004097	174018333	211	9050											
EOMES	8320	broad.mit.edu	37	chr3	27761703	27761703	+	Frame_Shift_Del	DEL	C	C	-													tgccacaggtcacccatttgCccccctggaagcgccagtgg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:27761702_27761702GC>G	uc003cdy.3	-	1	996	c.996_996GC>C	c.(994-996)ggcfs	p.G332fs	EOMES_uc003cdx.3_Frame_Shift_Del_p.G332fs|EOMES_uc010hfn.2_Frame_Shift_Del_p.G332fs|EOMES_uc011axc.1_Frame_Shift_Del_p.G37fs	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	332					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TCACCCATTTGCCCCCCTGGA	0.577													-	27761703	C	-	27761703	7	5	11	1	0	1	0	1	0	0	0	0	5147	739	26	0	1085	0	EOMES	3	27761703	Frame_Shift_Del	DEL	C	TCGA-BR-4256-01A-01D-1126-08	3757606	27761703	170260727	212	9051											
GOLGA4	2803	broad.mit.edu	37	chr3	37368531	37368531	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaaaatgtggcagcataTactgaacaagaagaagcaga	10	6	0	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:37368531T>C	uc003cgv.2	+	14	5458	c.5154T>C	c.(5152-5154)TAT>TAC	p.Y1718Y	GOLGA4_uc010hgr.1_Silent_p.Y1279Y|GOLGA4_uc003cgw.2_Silent_p.Y1740Y|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Silent_p.Y1599Y	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	1718	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						TGGCAGCATATACTGAACAAG	0.353													C	37368531	T	C	37368531	2	2	11	1	0	0	0	0	0	0	0	1	6555	1413	49	3		3	GOLGA4	3	37368531	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	9606828	37368531	160653899	213	9052											
XYLB	9942	broad.mit.edu	37	chr3	38438615	38438615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttatagacactgccaactCggcctgtgtgggttctgcat	11	10	1	1	rs2234625		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:38438615C>T	uc003cic.2	+	17	1512	c.1403C>T	c.(1402-1404)TCG>TTG	p.S468L	XYLB_uc011ayp.1_Missense_Mutation_p.S331L|XYLB_uc003cid.1_Missense_Mutation_p.S390L	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	468					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		ACTGCCAACTCGGCCTGTGTG	0.542													T	38438615	C	T	38438615	3	4	11	1	0	0	0	0	1	0	0	0	17459	893	31	1	1469	1	XYLB	3	38438615	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1070084	38438615	159583815	214	9053											
TTC21A	199223	broad.mit.edu	37	chr3	39177852	39177852	+	Frame_Shift_Del	DEL	T	T	-													ctgtctcttattttagacaaTtttttggtattgcataaatt							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:39177851_39177851AT>A	uc003cjc.2	+	22	3146	c.2969_2969AT>A	c.(2968-2970)aatfs	p.N990fs	TTC21A_uc011ayx.1_Frame_Shift_Del_p.N942fs|TTC21A_uc003cjd.2_Non-coding_Transcript|TTC21A_uc003cjf.2_Frame_Shift_Del_p.N111fs	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	990							binding	p.P989T(1)|p.P989Q(1)|p.P989K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATTTTAGACAATTTTTTGGTA	0.438													-	39177852	T	-	39177852	7	5	11	1	0	1	0	1	0	0	0	0	16684	1490	52	0	3063	0	TTC21A	3	39177852	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	739237	39177852	158844578	215	9054											
TGM4	7047	broad.mit.edu	37	chr3	44943299	44943299	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcagtgctgagagcgttgGgcatcccagcacgcagtgtg	14	10	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:44943299G>T	uc003coc.3	+	8	920	c.847G>T	c.(847-849)GGC>TGC	p.G283C		NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	283					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GAGAGCGTTGGGCATCCCAGC	0.577													T	44943299	G	T	44943299	3	4	11	1	0	0	0	0	1	0	0	0	15829	1232	43	5	877	5	TGM4	3	44943299	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	5765447	44943299	153079131	216	9055											
LIMD1	8994	broad.mit.edu	37	chr3	45637492	45637492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggggccgaagcctggctGcacagaccttggcactggtc	15	13	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:45637492G>A	uc003coq.2	+	1	1170	c.1121G>A	c.(1120-1122)TGC>TAC	p.C374Y		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	374					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		AAGCCTGGCTGCACAGACCTT	0.612													A	45637492	G	A	45637492	3	1	11	1	0	0	0	0	1	0	0	0	8798	1319	46	2	1123	2	LIMD1	3	45637492	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	694193	45637492	152384938	217	9056											
FYCO1	79443	broad.mit.edu	37	chr3	46009351	46009351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgttgctgttttttctccCgcctcaactctgctagctcc	6	16	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:46009351C>T	uc003cpb.3	-	8	1681	c.1475G>A	c.(1474-1476)CGG>CAG	p.R492Q	FYCO1_uc011bal.1_Missense_Mutation_p.R492Q	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	492	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TTTTTTCTCCCGCCTCAACTC	0.622													T	46009351	C	T	46009351	3	4	11	1	0	0	0	0	1	0	0	0	6125	652	23	1	3005	1	FYCO1	3	46009351	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	371859	46009351	152013079	218	9057											
CELSR3	1951	broad.mit.edu	37	chr3	48699642	48699642	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaaggtcctgtccgcccGcaagaggagacctctgggcg	14	13	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:48699642G>A	uc003cul.2	-	1	707	c.426C>T	c.(424-426)TGC>TGT	p.C142C	CELSR3_uc003cuf.1_Silent_p.C212C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	142	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGTCCGCCCGCAAGAGGAGA	0.622													A	48699642	G	A	48699642	2	1	11	1	0	0	0	0	0	0	0	1	3223	1079	38	1		1	CELSR3	3	48699642	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2690291	48699642	149322788	219	9058											
QARS	5859	broad.mit.edu	37	chr3	49139862	49139862	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatccctaccttgaacttcTtctccagatcagcctccaac	3	18	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:49139862T>C	uc003cvx.2	-	6	565	c.560A>G	c.(559-561)AAG>AGG	p.K187R	QARS_uc011bcd.1_Missense_Mutation_p.K42R|QARS_uc003cvy.2_Missense_Mutation_p.K42R|QARS_uc011bce.1_Missense_Mutation_p.K176R|QARS_uc011bcf.1_Missense_Mutation_p.K187R	NM_005051	NP_005042	P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	187					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CTTGAACTTCTTCTCCAGATC	0.572													C	49139862	T	C	49139862	3	2	11	1	0	0	0	0	1	0	0	0	12871	1609	56	3	1843	3	QARS	3	49139862	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	440220	49139862	148882568	220	9059											
CCDC71	64925	broad.mit.edu	37	chr3	49200881	49200881	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgttggttttgctctggTgcccagagcctcgtcggggt	14	11	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:49200881T>C	uc003cwg.3	-	2	899	c.761A>G	c.(760-762)CAC>CGC	p.H254R		NM_022903	NP_075054	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	254										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTTGCTCTGGTGCCCAGAGCC	0.632													C	49200881	T	C	49200881	3	2	11	1	0	0	0	0	1	0	0	0	2844	1696	59	3	646	3	CCDC71	3	49200881	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	61019	49200881	148821549	221	9060											
BSN	8927	broad.mit.edu	37	chr3	49688509	49688509	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccaagggtggggaggcGgaggtcagtcccattcactt	15	12	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:49688509G>A	uc003cxe.3	+	4	2097	c.1983G>A	c.(1981-1983)GCG>GCA	p.A661A		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	661					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GTGGGGAGGCGGAGGTCAGTC	0.597													A	49688509	G	A	49688509	2	1	11	1	0	0	0	0	0	0	0	1	1530	1103	39	1		1	BSN	3	49688509	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	487628	49688509	148333921	222	9061											
MON1A	84315	broad.mit.edu	37	chr3	49947986	49947986	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggagaagaccaggctgcgCgcacgcgcctgctgcaggct	15	13	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:49947986C>T	uc003cxz.2	-	4	1362	c.1236G>A	c.(1234-1236)GCG>GCA	p.A412A	MON1A_uc003cya.2_Silent_p.A250A|MON1A_uc003cyb.2_Silent_p.A250A	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	MON1 homolog A isoform a	315							protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCAGGCTGCGCGCACGCGCCT	0.692													T	49947986	C	T	49947986	2	4	11	1	0	0	0	0	0	0	0	1	9698	755	27	1		1	MON1A	3	49947986	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	259477	49947986	148074444	223	9062											
NT5DC2	64943	broad.mit.edu	37	chr3	52559266	52559266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccccgaagtagagcacgcGggggccacgccattccgtca	13	15	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:52559266G>A	uc003deo.2	-	11	1478	c.1054C>T	c.(1054-1056)CGC>TGC	p.R352C	NT5DC2_uc003dem.2_Missense_Mutation_p.R222C|NT5DC2_uc003den.2_Missense_Mutation_p.R389C|NT5DC2_uc010hmi.2_Missense_Mutation_p.R364C|NT5DC2_uc010hmj.2_Missense_Mutation_p.R168C	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2 isoform 2	352							hydrolase activity|metal ion binding				0				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TAGAGCACGCGGGGGCCACGC	0.642													A	52559266	G	A	52559266	3	1	11	1	0	0	0	0	1	0	0	0	10691	1116	39	1	524	1	NT5DC2	3	52559266	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2611280	52559266	145463164	224	9063											
PBRM1	55193	broad.mit.edu	37	chr3	52595943	52595943	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgttgattttccgtttggaGccttccttctttgcactgcc	8	11	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:52595943G>T	uc003des.2	-	25	4140	c.4128C>A	c.(4126-4128)GGC>GGA	p.G1376G	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Silent_p.G1376G|PBRM1_uc003der.2_Silent_p.G1344G|PBRM1_uc003det.2_Silent_p.G1391G|PBRM1_uc003deu.2_Silent_p.G1391G|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Silent_p.G1376G|PBRM1_uc010hmk.1_Silent_p.G1351G|PBRM1_uc003dey.2_Silent_p.G1324G|PBRM1_uc003dez.1_Silent_p.G1375G	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	1376					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCCGTTTGGAGCCTTCCTTCT	0.463			Mis|N|F|S|D|O		clear cell renal carcinoma|breast								T	52595943	G	T	52595943	2	4	11	1	0	0	0	0	0	0	0	1	11491	958	34	5		5	PBRM1	3	52595943	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	36677	52595943	145426487	225	9064											
IL17RB	55540	broad.mit.edu	37	chr3	53899191	53899191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagagattgatacaaaagaCgattacaatgctctcagtgt	9	6	1	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:53899191C>T	uc003dha.2	+	11	1404	c.1365C>T	c.(1363-1365)GAC>GAT	p.D455D		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	interleukin 17B receptor precursor	455	SEFIR.|Cytoplasmic (Potential).			Missing (in Ref. 2; AA sequence).	defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		ATACAAAAGACGATTACAATG	0.463													T	53899191	C	T	53899191	2	4	11	1	0	0	0	0	0	0	0	1	7640	535	19	1		1	IL17RB	3	53899191	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1303248	53899191	144123239	226	9065											
LRTM1	57408	broad.mit.edu	37	chr3	54952709	54952709	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccttggcttgggtttgagcTcgcactccaagagttctcgc	12	12	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:54952709T>A	uc003dhl.2	-	3	949	c.815A>T	c.(814-816)GAG>GTG	p.E272V	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	272	Extracellular (Potential).					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GGGTTTGAGCTCGCACTCCAA	0.607													A	54952709	T	A	54952709	3	1	11	1	0	0	0	0	1	0	0	0	9044	1551	54	5	226	5	LRTM1	3	54952709	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	1053518	54952709	143069721	227	9066											
FAM107A	11170	broad.mit.edu	37	chr3	58555555	58555555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggccatcaggcccccaatGtctgcccgctccctctggat	10	18	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:58555555G>A	uc003dkm.2	-	3	592	c.33C>T	c.(31-33)GAC>GAT	p.D11D	FAM107A_uc003dko.2_Silent_p.D42D|FAM107A_uc003dkn.2_Silent_p.D11D|FAM107A_uc010hnm.2_Silent_p.D39D|FAM107A_uc003dkp.1_Silent_p.D11D	NM_007177	NP_009108	O95990	F107A_HUMAN	downregulated in renal cell carcinoma	11					regulation of cell growth	nucleus	protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		GGCCCCCAATGTCTGCCCGCT	0.597													A	58555555	G	A	58555555	2	1	11	1	0	0	0	0	0	0	0	1	5389	1368	48	4		4	FAM107A	3	58555555	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3602846	58555555	139466875	228	9067											
LRIG1	26018	broad.mit.edu	37	chr3	66467669	66467669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagctggctcccctccacGctgcgaatcttgttgtgctg	10	14	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:66467669G>A	uc003dmx.2	-	4	401	c.387C>T	c.(385-387)AGC>AGT	p.S129S	LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Silent_p.S129S	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	129	Extracellular (Potential).|LRR 3.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCCCCTCCACGCTGCGAATCT	0.488													A	66467669	G	A	66467669	2	1	11	1	0	0	0	0	0	0	0	1	8944	1078	38	1		1	LRIG1	3	66467669	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	7912114	66467669	131554761	229	9068											
KBTBD8	84541	broad.mit.edu	37	chr3	67053771	67053771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagccttgttcactgcagCtagcatcttccagattcctt	6	13	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:67053771C>T	uc003dmy.2	+	3	433	c.380C>T	c.(379-381)GCT>GTT	p.A127V	KBTBD8_uc011bfv.1_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	T-cell activation kelch repeat protein	127										ovary(2)|large_intestine(1)|breast(1)	4		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TTCACTGCAGCTAGCATCTTC	0.418													T	67053771	C	T	67053771	3	4	11	1	0	0	0	0	1	0	0	0	7999	797	28	2	390	2	KBTBD8	3	67053771	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	586102	67053771	130968659	230	9069											
GXYLT2	727936	broad.mit.edu	37	chr3	72971426	72971426	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccatcacattttctgttggAaaccctcaggagtggaagaa	9	10	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:72971426A>G	uc003dpg.2	+	3	540	c.540A>G	c.(538-540)GGA>GGG	p.G180G		NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN	glycosyltransferase 8 domain containing 4	180	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0						TTTCTGTTGGAAACCCTCAGG	0.453													G	72971426	A	G	72971426	2	3	11	1	0	0	0	0	0	0	0	1	6904	233	9	3		3	GXYLT2	3	72971426	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	5917655	72971426	125051004	231	9070											
CNTN3	5067	broad.mit.edu	37	chr3	74420384	74420384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggagttggagagcccagCactcgggcatttgtcaccat	12	10	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:74420384C>T	uc003dpm.1	-	5	701	c.621G>A	c.(619-621)GTG>GTA	p.V207V		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	207	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GAGAGCCCAGCACTCGGGCAT	0.493													T	74420384	C	T	74420384	2	4	11	1	0	0	0	0	0	0	0	1	3642	697	25	2		2	CNTN3	3	74420384	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1448958	74420384	123602046	232	9071											
ROBO2	6092	broad.mit.edu	37	chr3	77684125	77684125	+	Frame_Shift_Del	DEL	A	A	-													gtcagaggcctcggcccactAaaaaacacaagggagggcgg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:77684124_77684124TA>T	uc011bgk.2	+	24	4519	c.3876_3876TA>T	c.(3874-3876)actfs	p.T1292fs	ROBO2_uc021xat.1_Frame_Shift_Del_p.T1304fs|ROBO2_uc003dpy.4_Frame_Shift_Del_p.T1288fs|ROBO2_uc003dpz.3_Frame_Shift_Del_p.T1353fs|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1288					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTCGGCCCACTAAAAAACACA	0.502													-	77684125	A	-	77684125	7	5	11	1	0	1	0	1	0	0	0	0	13514	363	13	0	3961	0	ROBO2	3	77684125	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	3263741	77684125	120338305	233	9072											
VGLL3	389136	broad.mit.edu	37	chr3	87027811	87027811	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccctggaaataagtgaaaaGgacacagcgagagttaaggt	12	6	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:87027811G>T	uc003dqn.2	-	2	632	c.268C>A	c.(268-270)CTT>ATT	p.L90I		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TAAGTGAAAAGGACACAGCGA	0.408													T	87027811	G	T	87027811	3	4	11	1	0	0	0	0	1	0	0	0	17157	1000	35	5	724	5	VGLL3	3	87027811	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	9343686	87027811	110994619	234	9073											
EPHA3	2042	broad.mit.edu	37	chr3	89499360	89499360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagatgagggctatcgactgCcaccccccatggactgccca	10	15	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:89499360C>T	uc003dqy.2	+	15	2755	c.2530C>T	c.(2530-2532)CCA>TCA	p.P844S	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	844	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTATCGACTGCCACCCCCCAT	0.468										TSP Lung(6;0.00050)			T	89499360	C	T	89499360	3	4	11	1	0	0	0	0	1	0	0	0	5168	739	26	2	2614	2	EPHA3	3	89499360	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2471549	89499360	108523070	235	9074											
IMPG2	50939	broad.mit.edu	37	chr3	100949961	100949961	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcacagtgcttgcctcGgtaccaccagttctcaccca	6	17	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:100949961G>A	uc003duq.1	-	16	3465	c.3262C>T	c.(3262-3264)CGA>TGA	p.R1088*	IMPG2_uc011bhe.1_Nonsense_Mutation_p.R951*|IMPG2_uc010hpj.1_Intron	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1088	Extracellular (Potential).|EGF-like 2.|Hyaluronan-binding motif involved in chondroitin sulfate C-binding (By similarity).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						TGCTTGCCTCGGTACCACCAG	0.493													A	100949961	G	A	100949961	4	1	11	1	0	0	0	0	0	1	0	0	7729	1124	39	1	479	1	IMPG2	3	100949961	Nonsense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	11450601	100949961	97072469	236	9075											
MYH15	22989	broad.mit.edu	37	chr3	108183492	108183492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggtaactcaccactcctGcataatggacaagttcaaaa	7	10	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:108183492G>A	uc003dxa.1	-	16	1841	c.1784C>T	c.(1783-1785)GCA>GTA	p.A595V		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	595	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						CACCACTCCTGCATAATGGAC	0.408													A	108183492	G	A	108183492	3	1	11	1	0	0	0	0	1	0	0	0	10034	1319	46	2	4164	2	MYH15	3	108183492	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	7233531	108183492	89838938	237	9076											
WDR52	55779	broad.mit.edu	37	chr3	113092397	113092397	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatagaaaaccagaatcatAgccaccctagaaaagagata	6	8	1	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:113092397A>G	uc003eae.1	-	18	2351	c.2305T>C	c.(2305-2307)TAT>CAT	p.Y769H		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	769										central_nervous_system(1)	1						CCAGAATCATAGCCACCCTAG	0.333													G	113092397	A	G	113092397	3	3	11	1	0	0	0	0	1	0	0	0	17301	420	15	3	3346	3	WDR52	3	113092397	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	4908905	113092397	84930033	238	9077											
SIDT1	54847	broad.mit.edu	37	chr3	113285337	113285337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggtccttgttgtggttcGccagcagaaagaggtgctgt	14	10	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:113285337G>A	uc003eak.2	+	2	944	c.293G>A	c.(292-294)CGC>CAC	p.R98H	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.R98H|SIDT1_uc011big.1_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	98	Extracellular (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						GTTGTGGTTCGCCAGCAGAAA	0.493													A	113285337	G	A	113285337	3	1	11	1	0	0	0	0	1	0	0	0	14302	1087	38	1	299	1	SIDT1	3	113285337	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	192940	113285337	84737093	239	9078											
KIAA2018	205717	broad.mit.edu	37	chr3	113378994	113378994	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgagatttaacttgtggcTgggcaattagtggctgcata	13	6	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:113378994T>G	uc003eam.2	-	7	1946	c.1535A>C	c.(1534-1536)CAG>CCG	p.Q512P	KIAA2018_uc003eal.2_Missense_Mutation_p.Q456P	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	512					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						AACTTGTGGCTGGGCAATTAG	0.438													G	113378994	T	G	113378994	3	3	11	1	0	0	0	0	1	0	0	0	8268	1580	55	5	5206	5	KIAA2018	3	113378994	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	93657	113378994	84643436	240	9079											
KIAA1407	57577	broad.mit.edu	37	chr3	113697052	113697052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcactgtgctccgctgCaatctcatgcttgccctgag	9	15	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:113697052C>T	uc003eax.2	-	16	2734	c.2587G>A	c.(2587-2589)GCA>ACA	p.A863T	KIAA1407_uc011bin.1_RNA	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	863										ovary(2)	2						TGCTCCGCTGCAATCTCATGC	0.418													T	113697052	C	T	113697052	3	4	11	1	0	0	0	0	1	0	0	0	8229	710	25	2	231	2	KIAA1407	3	113697052	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	318058	113697052	84325378	241	9080											
STXBP5L	9515	broad.mit.edu	37	chr3	121132132	121132132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctcctactgaaattcagCggttaacatacagccaagaa	6	11	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:121132132C>T	uc003eec.3	+	25	3288	c.3148C>T	c.(3148-3150)CGG>TGG	p.R1050W	STXBP5L_uc011bji.1_Missense_Mutation_p.R1026W	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1050	WD 14.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		TGAAATTCAGCGGTTAACATA	0.383													T	121132132	C	T	121132132	3	4	11	1	0	0	0	0	1	0	0	0	15356	759	27	1	3242	1	STXBP5L	3	121132132	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	7435080	121132132	76890298	242	9081											
CD86	942	broad.mit.edu	37	chr3	121825268	121825268	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttgtctgtttcattcccTgatgttacgagcaatatgac	8	9	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:121825268T>C	uc003eet.2	+	4	740	c.624T>C	c.(622-624)CCT>CCC	p.P208P	CD86_uc011bjo.1_Silent_p.P126P|CD86_uc011bjp.1_Silent_p.P96P|CD86_uc003eeu.2_Silent_p.P202P	NM_175862	NP_787058	P42081	CD86_HUMAN	CD86 antigen isoform 1	208	Ig-like C2-type.|Extracellular (Potential).				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			pancreas(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TTTCATTCCCTGATGTTACGA	0.398													C	121825268	T	C	121825268	2	2	11	1	0	0	0	0	0	0	0	1	3043	1567	55	3		3	CD86	3	121825268	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	693136	121825268	76197162	243	9082											
ZNF148	7707	broad.mit.edu	37	chr3	124951370	124951370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatccatgatagggagcacGgaagggctgttcaaaggagc	15	7	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:124951370G>A	uc003ehx.3	-	9	2686	c.2200C>T	c.(2200-2202)CGT>TGT	p.R734C	SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Missense_Mutation_p.R734C|ZNF148_uc010hsa.2_Missense_Mutation_p.R734C|ZNF148_uc003eia.3_Missense_Mutation_p.R734C|ZNF148_uc003ehy.2_Missense_Mutation_p.R71C	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	734					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4						TAGGGAGCACGGAAGGGCTGT	0.493													A	124951370	G	A	124951370	3	1	11	1	0	0	0	0	1	0	0	0	17731	1116	39	1	188	1	ZNF148	3	124951370	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3126102	124951370	73071060	244	9083											
ACAD9	28976	broad.mit.edu	37	chr3	128621403	128621403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctccctgcaggtggccaTgaacatcctcaacagcggcc	10	15	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:128621403T>C	uc003ela.3	+	9	1092	c.890T>C	c.(889-891)ATG>ACG	p.M297T	ACAD9_uc010hsw.1_Missense_Mutation_p.M174T|ACAD9_uc011bks.1_Missense_Mutation_p.M174T|ACAD9_uc003elb.2_Missense_Mutation_p.M174T|ACAD9_uc003elc.1_Missense_Mutation_p.M115T|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_5'Flank	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	acyl-Coenzyme A dehydrogenase family, member 9	297						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			ovary(2)|central_nervous_system(1)	3						CAGGTGGCCATGAACATCCTC	0.612													C	128621403	T	C	128621403	3	2	11	1	0	0	0	0	1	0	0	0	111	1464	51	3	924	3	ACAD9	3	128621403	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	3670033	128621403	69401027	245	9084											
NPHP3	27031	broad.mit.edu	37	chr3	132403635	132403635	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcttcagaaactggtcagcTgttctgtgaacacaatccca	8	12	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:132403635T>C	uc003epe.1	-	24	3410	c.3333A>G	c.(3331-3333)ACA>ACG	p.T1111T	NPHP3_uc003eoz.1_5'UTR|NPHP3_uc003epd.1_Silent_p.T353T	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	1111	TPR 7.				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1						ACTGGTCAGCTGTTCTGTGAA	0.418													C	132403635	T	C	132403635	2	2	11	1	0	0	0	0	0	0	0	1	10580	1567	55	3		3	NPHP3	3	132403635	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	3782232	132403635	65618795	246	9085											
CEP63	80254	broad.mit.edu	37	chr3	134278244	134278244	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacactatgtctgagagtatGaatgaccaagaagagtttat	10	5	1	5			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:134278244G>A	uc003eqo.1	+	15	2375	c.1926G>A	c.(1924-1926)ATG>ATA	p.M642I	CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	642					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			ovary(1)	1						CTGAGAGTATGAATGACCAAG	0.333													A	134278244	G	A	134278244	3	1	11	1	0	0	0	0	1	0	0	0	3257	1290	45	4	1976	4	CEP63	3	134278244	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1874609	134278244	63744186	247	9086											
ZBTB38	253461	broad.mit.edu	37	chr3	141161920	141161920	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtttcttccgtagctgaAgcttacagaagtcagcctgt	10	10	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:141161920A>C	uc003etw.2	+	8	1672	c.690A>C	c.(688-690)GAA>GAC	p.E230D	ZBTB38_uc010hun.2_Missense_Mutation_p.E227D|ZBTB38_uc010huo.2_Missense_Mutation_p.E230D|ZBTB38_uc003ety.2_Missense_Mutation_p.E230D|ZBTB38_uc010hup.2_Missense_Mutation_p.E231D	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	230					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CCGTAGCTGAAGCTTACAGAA	0.532													C	141161920	A	C	141161920	3	2	11	1	0	0	0	0	1	0	0	0	17536	69	3	5	692	5	ZBTB38	3	141161920	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	6883676	141161920	56860510	248	9087											
FAM194A	131831	broad.mit.edu	37	chr3	150416589	150416589	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actactcactcgattgcactTtatcagacaaatcttggagc	6	11	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:150416589T>C	uc003eyg.2	-	3	599	c.542A>G	c.(541-543)AAA>AGA	p.K181R	FAM194A_uc003eyh.2_Missense_Mutation_p.K35R	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	181										skin(2)|ovary(1)	3						CGATTGCACTTTATCAGACAA	0.269													C	150416589	T	C	150416589	3	2	11	1	0	0	0	0	1	0	0	0	5526	1841	64	3	1497	3	FAM194A	3	150416589	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	9254669	150416589	47605841	249	9088											
DHX36	170506	broad.mit.edu	37	chr3	154010357	154010358	+	Frame_Shift_Del	DEL	TC	TC	-													taccttccagctcgacctttTctctgtttggcattagcttt							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:154010356_154010357TTC>T	uc003ezy.4	-	14	1878_1879	c.1797_1798GAA>A	c.(1795-1800)agaaaafs	p.R599fs	DHX36_uc010hvq.3_Frame_Shift_Del_p.R585fs|DHX36_uc003ezz.4_Frame_Shift_Del_p.R599fs	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	599	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCTCGACCTTTTCTCTGTTTGG	0.366													-	154010358	TC	-	154010357	7	5	11	1	0	1	0	1	0	0	0	0	4509	1780	62	0	1273	0	DHX36	3	154010357	Frame_Shift_Del	DEL	TC	TCGA-BR-4256-01A-01D-1126-08	3593768	154010357	44012073	250	9089											
RSRC1	51319	broad.mit.edu	37	chr3	157920896	157920896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtctccgttctcatagtcGtagcagtgaaaggtccagtc	10	11	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:157920896G>A	uc003fbt.2	+	4	467	c.356G>A	c.(355-357)CGT>CAT	p.R119H	RSRC1_uc011bou.1_Intron|RSRC1_uc003fbu.1_Missense_Mutation_p.R119H|RSRC1_uc003fbv.2_Intron	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	119	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding				0			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			TCTCATAGTCGTAGCAGTGAA	0.378													A	157920896	G	A	157920896	3	1	11	1	0	0	0	0	1	0	0	0	13714	1145	40	1	366	1	RSRC1	3	157920896	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3910539	157920896	40101534	251	9090											
WDR49	151790	broad.mit.edu	37	chr3	167246886	167246886	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcaagatctcctgtggtaAggtatcgattcatcttatca	7	9	5	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:167246886A>C	uc003fev.1	-	10	1610	c.1304T>G	c.(1303-1305)CTT>CGT	p.L435R	WDR49_uc003feu.1_Missense_Mutation_p.L260R|WDR49_uc011bpd.1_Missense_Mutation_p.L499R|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	435	WD 7.									large_intestine(1)|ovary(1)|skin(1)	3						TCCTGTGGTAAGGTATCGATT	0.338													C	167246886	A	C	167246886	3	2	11	1	0	0	0	0	1	0	0	0	17299	72	3	5	813	5	WDR49	3	167246886	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	9325990	167246886	30775544	252	9091											
GOLIM4	27333	broad.mit.edu	37	chr3	167750557	167750557	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgaaattctgcctccttAtgggtgggagcatagagttt	12	8	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:167750557A>G	uc003ffe.2	-	9	1271	c.927T>C	c.(925-927)CAT>CAC	p.H309H	GOLIM4_uc011bpe.1_Silent_p.H309H|GOLIM4_uc011bpf.1_Silent_p.H281H|GOLIM4_uc011bpg.1_Silent_p.H281H	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	309	Lumenal (Potential).				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)|skin(1)	5						CTGCCTCCTTATGGGTGGGAG	0.512													G	167750557	A	G	167750557	2	3	11	1	0	0	0	0	0	0	0	1	6566	446	16	3		3	GOLIM4	3	167750557	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	503671	167750557	30271873	253	9092											
LRRC31	79782	broad.mit.edu	37	chr3	169557805	169557805	+	Frame_Shift_Del	DEL	T	T	-													atggtcaaagtgaatgcttcTttttttatcttggtcaaagc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:169557804_169557804CT>C	uc003fgc.1	-	8	1690	c.1625_1625AG>G	c.(1624-1626)agafs	p.R542fs	LRRC31_uc010hwp.1_Frame_Shift_Del_p.R486fs	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	542										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GTGAATGCTTCTTTTTTTATC	0.408													-	169557805	T	-	169557805	7	5	11	1	0	1	0	1	0	0	0	0	8986	1617	56	0	38	0	LRRC31	3	169557805	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	1807248	169557805	28464625	254	9093											
NAALADL2	254827	broad.mit.edu	37	chr3	174814591	174814591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcacaggtaaaaagatgGcctatcagaaggtccatgca	9	8	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:174814591G>A	uc003fit.2	+	2	142	c.55G>A	c.(55-57)GCC>ACC	p.A19T	NAALADL2_uc003fiu.1_Missense_Mutation_p.A12T	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	19	Cytoplasmic (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TAAAAAGATGGCCTATCAGAA	0.343													A	174814591	G	A	174814591	3	1	11	1	0	0	0	0	1	0	0	0	10130	1203	42	2	61	2	NAALADL2	3	174814591	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	5256786	174814591	23207839	255	9094											
TBL1XR1	79718	broad.mit.edu	37	chr3	176756101	176756101	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaaaaaaggtttcttacCgtatgtccttggaatgtttt	10	5	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:176756101C>T	uc003fiw.3	-	11	1307	c.1047G>A	c.(1045-1047)ACG>ACA	p.T349T	TBL1XR1_uc003fix.3_Silent_p.T349T|TBL1XR1_uc011bpz.1_Silent_p.T21T	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	349	WD 5.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GGTTTCTTACCGTATGTCCTT	0.343													T	176756101	C	T	176756101	2	4	11	1	0	0	0	0	0	0	0	1	15637	666	23	1		1	TBL1XR1	3	176756101	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1941510	176756101	21266329	256	9095											
KCNMB3	27094	broad.mit.edu	37	chr3	178977011	178977011	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgtactttctgcttcacaGgcatcactaatgtcctgtga	7	11	4	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:178977011G>T	uc003fjo.2	-	1	669	c.-273C>A	c.(-275--271)GCCTG>GCATG		KCNMB3_uc003fjl.3_RNA|KCNMB3_uc011bqc.1_Intron|KCNMB3_uc003fjp.1_Intron	NM_171829	NP_741980	Q9NPA1	KCMB3_HUMAN	calcium-activated potassium channel beta 3						detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity				0	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			CTGCTTCACAGGCATCACTAA	0.458													T	178977011	G	T	178977011	1	4	11	1	0	0	0	0	0	0	0	0	8076	1015	35	5		5	KCNMB3	3	178977011	Translation_Start_Site	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2220910	178977011	19045419	257	9096											
EIF2B5	8893	broad.mit.edu	37	chr3	183859721	183859721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctgagccaggtgataacGtggtgctggaccagacctac	12	11	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:183859721G>A	uc003fmp.2	+	8	1529	c.1165G>A	c.(1165-1167)GTG>ATG	p.V389M	EIF2B5_uc003fmq.2_Missense_Mutation_p.V110M|EIF2B5_uc003fmr.2_5'Flank	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B,	389					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			ovary(5)	5	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGGTGATAACGTGGTGCTGGA	0.572													A	183859721	G	A	183859721	3	1	11	1	0	0	0	0	1	0	0	0	5004	1145	40	1	1195	1	EIF2B5	3	183859721	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	4882710	183859721	14162709	258	9097											
ADIPOQ	9370	broad.mit.edu	37	chr3	186572260	186572260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctaccacatcacagtctatAtgaaggatgtgaaggtcagc	9	10	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:186572260A>G	uc003fra.2	+	3	586	c.502A>G	c.(502-504)ATG>GTG	p.M168V	ADIPOQ_uc010hyy.2_Missense_Mutation_p.M168V	NM_004797	NP_004788	Q15848	ADIPO_HUMAN	adiponectin precursor	168	C1q.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			ovary(1)	1	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		CACAGTCTATATGAAGGATGT	0.463													G	186572260	A	G	186572260	3	3	11	1	0	0	0	0	1	0	0	0	317	449	16	3	508	3	ADIPOQ	3	186572260	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	2712539	186572260	11450170	259	9098											
LPP	4026	broad.mit.edu	37	chr3	188327061	188327061	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccaagaagtctacattgaAaccacagcctgcaccccagg	7	14	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:188327061A>G	uc003frs.1	+	6	788	c.542A>G	c.(541-543)AAA>AGA	p.K181R	LPP_uc011bsg.1_Missense_Mutation_p.K181R|LPP_uc011bsi.1_Missense_Mutation_p.K181R|LPP_uc003frt.2_Missense_Mutation_p.K181R|LPP_uc011bsj.1_Missense_Mutation_p.K18R	NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	181	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TCTACATTGAAACCACAGCCT	0.577			T	HMGA2|MLL|C12orf9	lipoma|leukemia								G	188327061	A	G	188327061	3	3	11	1	0	0	0	0	1	0	0	0	8923	14	1	3	556	3	LPP	3	188327061	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	1754801	188327061	9695369	260	9099											
IL1RAP	3556	broad.mit.edu	37	chr3	190366420	190366420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagctgcaggtggccatgCcagtgaagaaaagtcccagg	14	10	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:190366420C>T	uc003fsm.1	+	12	1845	c.1639C>T	c.(1639-1641)CCA>TCA	p.P547S	IL1RAP_uc010hzg.1_Missense_Mutation_p.P547S|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.P547S|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	547	Cytoplasmic (Potential).|TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GGTGGCCATGCCAGTGAAGAA	0.473													T	190366420	C	T	190366420	3	4	11	1	0	0	0	0	1	0	0	0	7660	739	26	2	1697	2	IL1RAP	3	190366420	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2039359	190366420	7656010	261	9100											
ATP13A4	84239	broad.mit.edu	37	chr3	193160315	193160315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccattccagattttctgGccactgttattgcagtctga	7	10	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:193160315G>A	uc003ftd.2	-	19	2291	c.2183C>T	c.(2182-2184)GCC>GTC	p.A728V	ATP13A4_uc003fte.1_Missense_Mutation_p.A728V|ATP13A4_uc011bsr.1_Missense_Mutation_p.A199V|ATP13A4_uc010hzi.2_RNA	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	728	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGATTTTCTGGCCACTGTTAT	0.413													A	193160315	G	A	193160315	3	1	11	1	0	0	0	0	1	0	0	0	1126	1203	42	2	1455	2	ATP13A4	3	193160315	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2793895	193160315	4862115	262	9101											
GP5	2814	broad.mit.edu	37	chr3	194118478	194118478	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgggtcaggttgtttccCgataaatccaacaacttcag	10	9	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:194118478C>T	uc003ftv.1	-	2	565	c.534G>A	c.(532-534)TCG>TCA	p.S178S		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	178	Extracellular (Potential).|LRR 5.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				skin(2)|breast(1)	3	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GGTTGTTTCCCGATAAATCCA	0.532													T	194118478	C	T	194118478	2	4	11	1	0	0	0	0	0	0	0	1	6583	639	23	1		1	GP5	3	194118478	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	958163	194118478	3903952	263	9102											
PAK2	5062	broad.mit.edu	37	chr3	196554107	196554107	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatggaaccccagaacttcAgaatccagagaaactttccc	6	12	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:196554107A>G	uc003fwy.3	+	14	1713	c.1391A>G	c.(1390-1392)CAG>CGG	p.Q464R		NM_002577	NP_002568	Q13177	PAK2_HUMAN	p21-activated kinase 2	464	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			ovary(1)|lung(1)	2	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CCAGAACTTCAGAATCCAGAG	0.388													G	196554107	A	G	196554107	3	3	11	1	0	0	0	0	1	0	0	0	11401	188	7	3	1441	3	PAK2	3	196554107	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	2435629	196554107	1468323	264	9103											
KIAA1530	57654	broad.mit.edu	37	chr4	1373950	1373950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttgccgggaagtttgagCctgtgcagcactggtgccgt	14	10	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:1373950C>T	uc003gde.3	+	11	2131	c.1684C>T	c.(1684-1686)CCT>TCT	p.P562S	KIAA1530_uc010ibv.2_Missense_Mutation_p.P113S	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	562											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			GAAGTTTGAGCCTGTGCAGCA	0.672													T	1373950	C	T	1373950	3	4	11	1	0	0	0	0	1	0	0	0	8241	739	26	2	1722	2	KIAA1530	4	1373950	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08		1373950	189780326	265	9104											
HTT	3064	broad.mit.edu	37	chr4	3224185	3224185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggtgacgcagcccctcGtgatggagcaggaggagagc	16	11	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:3224185G>A	uc011bvq.1	+	55	7592	c.7447G>A	c.(7447-7449)GTG>ATG	p.V2483M		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2481					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCAGCCCCTCGTGATGGAGCA	0.542													A	3224185	G	A	3224185	3	1	11	1	0	0	0	0	1	0	0	0	7457	1145	40	1	7655	1	HTT	4	3224185	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1850235	3224185	187930091	266	9105											
EVC2	132884	broad.mit.edu	37	chr4	5567005	5567005	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctgctttctcttgcgggcCcacagcatcttttctaatcc	6	15	4	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:5567005C>A	uc003gij.2	-	21	3693	c.3639G>T	c.(3637-3639)TGG>TGT	p.W1213C	EVC2_uc011bwb.1_Missense_Mutation_p.W653C|EVC2_uc003gik.2_Missense_Mutation_p.W1133C	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1213						integral to membrane				large_intestine(3)|ovary(2)	5						TCTTGCGGGCCCACAGCATCT	0.572													A	5567005	C	A	5567005	3	1	11	1	0	0	0	0	1	0	0	0	5286	624	22	5	295	5	EVC2	4	5567005	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2342820	5567005	185587271	267	9106											
WFS1	7466	broad.mit.edu	37	chr4	6303640	6303640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaccggccgcttcaagtaCgtccgcgtgactgacatcga	12	13	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:6303640C>T	uc003giy.2	+	8	2284	c.2118C>T	c.(2116-2118)TAC>TAT	p.Y706Y	WFS1_uc003gix.2_Silent_p.Y706Y|WFS1_uc003giz.2_Silent_p.Y524Y	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	706					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)		GCTTCAAGTACGTCCGCGTGA	0.652													T	6303640	C	T	6303640	2	4	11	1	0	0	0	0	0	0	0	1	17357	547	19	1		1	WFS1	4	6303640	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	736635	6303640	184850636	268	9107											
DRD5	1816	broad.mit.edu	37	chr4	9783925	9783925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtcagaccttttcgtggCgctgctggtcatgccctgga	13	12	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:9783925C>T	uc003gmb.3	+	1	668	c.272C>T	c.(271-273)GCG>GTG	p.A91V		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	91	Helical; Name=2; (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CTTTTCGTGGCGCTGCTGGTC	0.632													T	9783925	C	T	9783925	3	4	11	1	0	0	0	0	1	0	0	0	4760	768	27	1	274	1	DRD5	4	9783925	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3480285	9783925	181370351	269	9108											
ZNF518B	85460	broad.mit.edu	37	chr4	10446426	10446426	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagcaaaacaaacagcAgctttatatggaaaagggtt	8	7	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:10446426A>C	uc003gmn.2	-	3	2014	c.1527T>G	c.(1525-1527)GCT>GCG	p.A509A		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4						AACAAACAGCAGCTTTATATG	0.408													C	10446426	A	C	10446426	2	2	11	1	0	0	0	0	0	0	0	1	17960	175	7	5		5	ZNF518B	4	10446426	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	662501	10446426	180707850	270	9109											
BOD1L	259282	broad.mit.edu	37	chr4	13604645	13604645	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatctggatcatacgattcCctcagaggcacaacagtcac	7	13	4	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:13604645C>A	uc003gmz.1	-	10	3996	c.3879G>T	c.(3877-3879)AGG>AGT	p.R1293S	BOD1L_uc010idr.1_Missense_Mutation_p.R630S	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1293							DNA binding			ovary(5)|breast(1)	6						CATACGATTCCCTCAGAGGCA	0.468													A	13604645	C	A	13604645	3	1	11	1	0	0	0	0	1	0	0	0	1483	622	22	5	5344	5	BOD1L	4	13604645	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3158219	13604645	177549631	271	9110											
CPEB2	132864	broad.mit.edu	37	chr4	15009022	15009022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caatgcatggcagagatcatCgtagaaccggaaacatggga	12	8	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:15009022C>T	uc003gni.1	+	2	532	c.445C>T	c.(445-447)CGT>TGT	p.R149C	CPEB2_uc003gnj.1_Missense_Mutation_p.R149C|CPEB2_uc003gnk.1_Missense_Mutation_p.R149C|CPEB2_uc003gnl.1_Missense_Mutation_p.R149C|CPEB2_uc003gnm.1_Missense_Mutation_p.R149C|CPEB2_uc003gnn.1_Missense_Mutation_p.R149C	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding	149					regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1						CAGAGATCATCGTAGAACCGG	0.488													T	15009022	C	T	15009022	3	4	11	1	0	0	0	0	1	0	0	0	3801	884	31	1	1762	1	CPEB2	4	15009022	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1404377	15009022	176145254	272	9111											
DCAF16	54876	broad.mit.edu	37	chr4	17805438	17805438	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagggggccattcaggaatTggttccagtttggggacaca	15	7	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:17805438T>C	uc003gpn.2	-	3	1388	c.327A>G	c.(325-327)CCA>CCG	p.P109P	DCAF16_uc003gpo.2_RNA	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	109						CUL4 RING ubiquitin ligase complex				ovary(1)	1						ATTCAGGAATTGGTTCCAGTT	0.488													C	17805438	T	C	17805438	2	2	11	1	0	0	0	0	0	0	0	1	4268	1799	63	3		3	DCAF16	4	17805438	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	2796416	17805438	173348838	273	9112											
STIM2	57620	broad.mit.edu	37	chr4	27010595	27010595	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgatgacttagatgaagAcacacccccaatagtgtcac	8	10	1	5			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:27010595A>C	uc003gsh.3	+	11	1961	c.1745A>C	c.(1744-1746)GAC>GCC	p.D582A	STIM2_uc003gsg.3_Missense_Mutation_p.D574A|STIM2_uc010iex.2_Missense_Mutation_p.D574A|STIM2_uc010iey.2_Missense_Mutation_p.D198A	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	487	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			central_nervous_system(1)|skin(1)	2		Breast(46;0.0503)				TTAGATGAAGACACACCCCCA	0.428													C	27010595	A	C	27010595	3	2	11	1	0	0	0	0	1	0	0	0	15283	275	10	5	1526	5	STIM2	4	27010595	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	9205157	27010595	164143681	274	9113											
WDR19	57728	broad.mit.edu	37	chr4	39254779	39254779	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttacagatacaaagaagctGttgtagcttatgaaaatgca	8	5	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:39254779G>C	uc003gtv.2	+	25	2897	c.2743G>C	c.(2743-2745)GTT>CTT	p.V915L	WDR19_uc011byi.1_Missense_Mutation_p.V755L|WDR19_uc003gtw.1_Missense_Mutation_p.V512L	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	915	TPR 4.				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CAAAGAAGCTGTTGTAGCTTA	0.323													C	39254779	G	C	39254779	3	2	11	1	0	0	0	0	1	0	0	0	17276	1377	48	5	2841	5	WDR19	4	39254779	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	12244184	39254779	151899497	275	9114											
APBB2	323	broad.mit.edu	37	chr4	40827943	40827943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacatgcccaagtactgcaCgtggaacttctggaccagct	9	12	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:40827943C>T	uc003gvl.2	-	15	2404	c.1774G>A	c.(1774-1776)GTG>ATG	p.V592M	APBB2_uc010ifu.2_Missense_Mutation_p.V164M|APBB2_uc003gvm.2_Missense_Mutation_p.V570M|APBB2_uc003gvn.2_Missense_Mutation_p.V593M|APBB2_uc003gvk.2_Missense_Mutation_p.V44M	NM_173075	NP_775098	Q92870	APBB2_HUMAN	amyloid beta A4 precursor protein-binding,	592	PID 2.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			ovary(2)|large_intestine(1)	3						AAGTACTGCACGTGGAACTTC	0.458													T	40827943	C	T	40827943	3	4	11	1	0	0	0	0	1	0	0	0	761	536	19	1	518	1	APBB2	4	40827943	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1573164	40827943	150326333	276	9115											
APBB2	323	broad.mit.edu	37	chr4	40832595	40832595	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgctacataagcaaaatccCtgtgcaagcaaaatgtatca	6	9	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:40832595C>A	uc003gvl.2	-	13	2157	c.1527_splice	c.e13-1	p.R509_splice	APBB2_uc010ifu.2_Splice_Site_p.R81_splice|APBB2_uc003gvm.2_Splice_Site_p.R488_splice|APBB2_uc003gvn.2_Splice_Site_p.R510_splice|APBB2_uc003gvk.2_Splice_Site	NM_173075	NP_775098	Q92870	APBB2_HUMAN	amyloid beta A4 precursor protein-binding,						cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			ovary(2)|large_intestine(1)	3						AGCAAAATCCCTGTGCAAGCA	0.393													A	40832595	C	A	40832595	5	1	11	1	0	0	0	0	0	0	1	0	761	695	24	5	774	5	APBB2	4	40832595	Splice_Site	SNP	C	TCGA-BR-4256-01A-01D-1126-08	4652	40832595	150321681	277	9116											
SLC30A9	10463	broad.mit.edu	37	chr4	42037307	42037307	+	Frame_Shift_Del	DEL	A	A	-													tacagggctatttagaaaccAaaaaatattaagagaataca							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:42037306_42037306CA>C	uc003gwl.3	+	6	771	c.625_625CA>C	c.(625-627)caafs	p.Q209fs	SLC30A9_uc011byx.2_5'UTR	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA.	209					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATTTAGAAACCAAAAAATATT	0.303													-	42037307	A	-	42037307	7	5	11	1	0	1	0	1	0	0	0	0	14562	130	5	0	652	0	SLC30A9	4	42037307	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	1204712	42037307	149116969	278	9117											
GUF1	60558	broad.mit.edu	37	chr4	44699460	44699460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaacgttttggcaaaatGtgtatgtatctagttgtatt	9	3	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:44699460G>A	uc003gww.3	+	16	2078	c.1871G>A	c.(1870-1872)TGT>TAT	p.C624Y	GUF1_uc011bza.1_Missense_Mutation_p.C31Y	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog	624					translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1						TTGGCAAAATGTGTATGTATC	0.289													A	44699460	G	A	44699460	3	1	11	1	0	0	0	0	1	0	0	0	6899	1391	48	4	1933	4	GUF1	4	44699460	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2662153	44699460	146454816	279	9118											
FRYL	285527	broad.mit.edu	37	chr4	48559087	48559087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgggccagccatctgcaaGtgtggtccacacattctcca	9	13	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:48559087G>A	uc003gyh.1	-	35	4779	c.4174C>T	c.(4174-4176)CTT>TTT	p.L1392F	FRYL_uc003gyk.2_Missense_Mutation_p.L1392F|FRYL_uc003gyg.1_Missense_Mutation_p.L88F|FRYL_uc003gyi.1_Missense_Mutation_p.L281F	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1392					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						CCATCTGCAAGTGTGGTCCAC	0.433													A	48559087	G	A	48559087	3	1	11	1	0	0	0	0	1	0	0	0	6064	1029	36	4	4987	4	FRYL	4	48559087	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3859627	48559087	142595189	280	9119											
KDR	3791	broad.mit.edu	37	chr4	55958789	55958789	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaacctttcttacctttcGcgatgccaagaactccatgc	5	15	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:55958789G>A	uc003has.2	-	22	3366	c.3064C>T	c.(3064-3066)CGA>TGA	p.R1022*	KDR_uc003hat.1_Nonsense_Mutation_p.R1022*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	1022	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTTACCTTTCGCGATGCCAAG	0.458			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			A	55958789	G	A	55958789	4	1	11	1	0	0	0	0	0	1	0	0	8139	1095	38	1	1042	1	KDR	4	55958789	Nonsense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	7399702	55958789	135195487	281	9120											
SRD5A3	79644	broad.mit.edu	37	chr4	56225516	56225516	+	Frame_Shift_Del	DEL	T	T	-													ttgttttccttttgcagataTttttcccacttttatatcat							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:56225515_56225515AT>A	uc003hau.3	+	1	340	c.224_224AT>A	c.(223-225)tatfs	p.Y75fs		NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	Homo sapiens steroid 5 alpha-reductase 3 (SRD5A3), mRNA.	75					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			TTTTGCAGATATTTTTCCCAC	0.433													-	56225516	T	-	56225516	7	5	11	1	0	1	0	1	0	0	0	0	15139	1500	52	0	231	0	SRD5A3	4	56225516	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	266727	56225516	134928760	282	9121											
AASDH	132949	broad.mit.edu	37	chr4	57244433	57244433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctttagcctcagatccatGtgttcttctgctttttcttc	6	11	4	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:57244433G>A	uc003hbn.2	-	4	702	c.549C>T	c.(547-549)CAC>CAT	p.H183H	AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Silent_p.H30H|AASDH_uc003hbo.2_Silent_p.H83H|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Silent_p.H183H|AASDH_uc003hbp.2_Silent_p.H183H	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	183					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TCAGATCCATGTGTTCTTCTG	0.368													A	57244433	G	A	57244433	2	1	11	1	0	0	0	0	0	0	0	1	22	1368	48	4		4	AASDH	4	57244433	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1018917	57244433	133909843	283	9122											
SRP72	6731	broad.mit.edu	37	chr4	57340350	57340350	+	Frame_Shift_Del	DEL	A	A	-													tgcagctcaaagcaattgggAaaaagtggttccagtgagta							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:57340349_57340349GA>G	uc003hbv.3	+	3	524	c.484_484GA>G	c.(484-486)gaafs	p.E162fs	SRP72_uc010ihe.3_Frame_Shift_Del_p.E162fs	NM_006947	NP_008878	O76094	SRP72_HUMAN	Homo sapiens signal recognition particle 72kDa (SRP72), mRNA.	162					SRP-dependent cotranslational protein targeting to membrane|response to drug	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					AAGCAATTGGGAAAAAGTGGT	0.398													-	57340350	A	-	57340350	7	5	11	1	0	1	0	1	0	0	0	0	15156	246	9	0	499	0	SRP72	4	57340350	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	95917	57340350	133813926	284	9123											
ENAM	10117	broad.mit.edu	37	chr4	71508780	71508780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacagctcatatcagcctgCtgtataccctgaggaaatcc	8	13	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:71508780C>T	uc011caw.1	+	9	1918	c.1637C>T	c.(1636-1638)GCT>GTT	p.A546V		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	546					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)			TATCAGCCTGCTGTATACCCT	0.418													T	71508780	C	T	71508780	3	4	11	1	0	0	0	0	1	0	0	0	5112	797	28	2	1667	2	ENAM	4	71508780	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	14168430	71508780	119645496	285	9124											
ENAM	10117	broad.mit.edu	37	chr4	71509090	71509090	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagaccagaaggagatagtCccttataatgaagaggaccc	10	10	0	5			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:71509090C>T	uc011caw.1	+	9	2228	c.1947C>T	c.(1945-1947)GTC>GTT	p.V649V		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	649					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)			AGGAGATAGTCCCTTATAATG	0.458													T	71509090	C	T	71509090	2	4	11	1	0	0	0	0	0	0	0	1	5112	842	30	4		4	ENAM	4	71509090	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	310	71509090	119645186	286	9125											
ENAM	10117	broad.mit.edu	37	chr4	71509960	71509960	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaacagctcagagaagagGgaaagccaaaacccttttag	10	8	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:71509960G>T	uc011caw.1	+	9	3098	c.2817G>T	c.(2815-2817)AGG>AGT	p.R939S		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	939					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)			CAGAGAAGAGGGAAAGCCAAA	0.458													T	71509960	G	T	71509960	3	4	11	1	0	0	0	0	1	0	0	0	5112	1223	43	5	2847	5	ENAM	4	71509960	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	870	71509960	119644316	287	9126											
G3BP2	9908	broad.mit.edu	37	chr4	76587173	76587173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattgcctcacaaactcccGccctacaagcagcggactgg	8	15	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:76587173G>A	uc003hir.2	-	2	202	c.37C>T	c.(37-39)CGG>TGG	p.R13W	G3BP2_uc003his.2_Missense_Mutation_p.R13W|G3BP2_uc003hit.2_Missense_Mutation_p.R13W	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Ras-GTPase activating protein SH3 domain-binding	13	NTF2.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(2)|central_nervous_system(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACAAACTCCCGCCCTACAAGC	0.358													A	76587173	G	A	76587173	3	1	11	1	0	0	0	0	1	0	0	0	6142	1086	38	1	1455	1	G3BP2	4	76587173	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	5077213	76587173	114567103	288	9127											
SCARB2	950	broad.mit.edu	37	chr4	77095377	77095377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagccggcattgtctgacGtattggctaatatttctgca	10	8	2	2	rs148588727	by1000genomes	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:77095377G>A	uc003hju.1	-	7	1253	c.914C>T	c.(913-915)ACG>ATG	p.T305M	SCARB2_uc011cbu.1_Missense_Mutation_p.T162M	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	305	Lumenal (Potential).				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity				0			Lung(101;0.196)			ATTGTCTGACGTATTGGCTAA	0.463													A	77095377	G	A	77095377	3	1	11	1	0	0	0	0	1	0	0	0	13882	1145	40	1	546	1	SCARB2	4	77095377	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	508204	77095377	114058899	289	9128											
CCDC158	339965	broad.mit.edu	37	chr4	77283437	77283437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactctggcctcaagctccCggatctttgcatctttttta	6	13	5	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:77283437C>T	uc003hkb.3	-	12	2015	c.1862G>A	c.(1861-1863)CGG>CAG	p.R621Q		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	621	Potential.									skin(3)|ovary(2)|pancreas(1)	6						CTCAAGCTCCCGGATCTTTGC	0.388													T	77283437	C	T	77283437	3	4	11	1	0	0	0	0	1	0	0	0	2790	652	23	1	1531	1	CCDC158	4	77283437	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	188060	77283437	113870839	290	9129											
ANKRD56	345079	broad.mit.edu	37	chr4	77816758	77816758	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acttctagatatttccttgcTcttggcctttctggtagggg	10	9	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:77816758T>G	uc003hki.2	-	1	2245	c.2245A>C	c.(2245-2247)AGC>CGC	p.S749R		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	ankyrin repeat domain 56	749											0						ATTTCCTTGCTCTTGGCCTTT	0.483													G	77816758	T	G	77816758	3	3	11	1	0	0	0	0	1	0	0	0	682	1551	54	5	140	5	ANKRD56	4	77816758	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	533321	77816758	113337518	291	9130											
WDFY3	23001	broad.mit.edu	37	chr4	85645698	85645698	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccagaggccagtcgcatgTagtactctttactgtcataa	9	10	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:85645698T>C	uc003hpd.2	-	46	7730	c.7322A>G	c.(7321-7323)TAC>TGC	p.Y2441C	WDFY3_uc003hpe.1_Missense_Mutation_p.Y52C	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2441						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAGTCGCATGTAGTACTCTTT	0.448													C	85645698	T	C	85645698	3	2	11	1	0	0	0	0	1	0	0	0	17267	1638	57	3	3350	3	WDFY3	4	85645698	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	7828940	85645698	105508578	292	9131											
PTPN13	5783	broad.mit.edu	37	chr4	87680177	87680177	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaattttgcaaaatgcaccTgaagatgtgacacttgttat	8	6	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:87680177T>C	uc003hpz.2	+	23	3984	c.3504T>C	c.(3502-3504)CCT>CCC	p.P1168P	PTPN13_uc003hpy.2_Silent_p.P1168P|PTPN13_uc003hqa.2_Silent_p.P1149P|PTPN13_uc003hqb.2_Silent_p.P977P	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1168	PDZ 1.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAAATGCACCTGAAGATGTGA	0.383													C	87680177	T	C	87680177	2	2	11	1	0	0	0	0	0	0	0	1	12782	1567	55	3		3	PTPN13	4	87680177	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	2034479	87680177	103474099	293	9132											
KLHL8	57563	broad.mit.edu	37	chr4	88104415	88104415	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcaggtactgctctgcTactcaagtgaaggtggtaat	11	7	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:88104415T>C	uc011cdb.1	-	4	1277	c.892A>G	c.(892-894)AGC>GGC	p.S298G	KLHL8_uc003hql.1_Missense_Mutation_p.S298G|KLHL8_uc003hqm.1_Missense_Mutation_p.S222G|KLHL8_uc003hqn.1_Missense_Mutation_p.S115G|KLHL8_uc010ikj.1_Intron	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	kelch-like 8	298											0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		ACTGCTCTGCTACTCAAGTGA	0.388													C	88104415	T	C	88104415	3	2	11	1	0	0	0	0	1	0	0	0	8395	1522	53	3	998	3	KLHL8	4	88104415	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	424238	88104415	103049861	294	9133											
IBSP	3381	broad.mit.edu	37	chr4	88732603	88732603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaatgaaaacgaagaaagCgaagcagaagtggatgaaaa	13	3	0	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:88732603C>T	uc003hqx.3	+	7	593	c.495C>T	c.(493-495)AGC>AGT	p.S165S		NM_004967	NP_004958	P21815	SIAL_HUMAN	integrin-binding sialoprotein precursor	165	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification						0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		acgaagaaagcgaagcagaag	0.338													T	88732603	C	T	88732603	2	4	11	1	0	0	0	0	0	0	0	1	7475	767	27	1		1	IBSP	4	88732603	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	628188	88732603	102421673	295	9134											
TSPAN5	10098	broad.mit.edu	37	chr4	99407915	99407915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaggaaagtgttttcccGtagcgctccaatgcaccctg	11	11	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:99407915G>A	uc003hub.2	-	3	603	c.253C>T	c.(253-255)CGG>TGG	p.R85W	TSPAN5_uc011cdz.1_Missense_Mutation_p.R14W	NM_005723	NP_005714	P62079	TSN5_HUMAN	transmembrane 4 superfamily member 9	85	Cytoplasmic (Potential).					integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		GTGTTTTCCCGTAGCGCTCCA	0.478													A	99407915	G	A	99407915	3	1	11	1	0	0	0	0	1	0	0	0	16647	1144	40	1	577	1	TSPAN5	4	99407915	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	10675312	99407915	91746361	296	9135											
EIF4E	1977	broad.mit.edu	37	chr4	99823101	99823101	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattccgttttctcctcttcTgtagtcgggggattaggagt	12	8	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:99823101T>C	uc003hue.2	-	2	1574	c.51A>G	c.(49-51)ACA>ACG	p.T17T	EIF4E_uc011cea.1_Silent_p.T37T|EIF4E_uc011ceb.1_Silent_p.T17T|EIF4E_uc011cec.1_Silent_p.T17T	NM_001968	NP_001959	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	17					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			lung(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		TCTCCTCTTCTGTAGTCGGGG	0.373													C	99823101	T	C	99823101	2	2	11	1	0	0	0	0	0	0	0	1	5028	1567	55	3		3	EIF4E	4	99823101	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	415186	99823101	91331175	297	9136											
MTTP	4547	broad.mit.edu	37	chr4	100530094	100530094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgaataaatacatgctcGccattgttcaagacatccta	5	9	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:100530094G>A	uc003hvc.3	+	13	1985	c.1729G>A	c.(1729-1731)GCC>ACC	p.A577T	MTTP_uc011cej.1_Missense_Mutation_p.A604T	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	577	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	ATACATGCTCGCCATTGTTCA	0.398													A	100530094	G	A	100530094	3	1	11	1	0	0	0	0	1	0	0	0	9964	1087	38	1	1775	1	MTTP	4	100530094	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	706993	100530094	90624182	298	9137											
CYP2U1	113612	broad.mit.edu	37	chr4	108870669	108870669	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaacctttattccttttggGataggtcagttacacttttt	7	7	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:108870669G>A	uc003hyp.2	+	4	1535	c.1452G>A	c.(1450-1452)GGG>GGA	p.G484G	CYP2U1_uc011cfi.1_Silent_p.G275G	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U,	484					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		TTCCTTTTGGGATAGGTCAGT	0.303													A	108870669	G	A	108870669	2	1	11	1	0	0	0	0	0	0	0	1	4175	1161	41	4		4	CYP2U1	4	108870669	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	8340575	108870669	82283607	299	9138											
CFI	3426	broad.mit.edu	37	chr4	110673647	110673647	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catccatgtcagcagtcaaaAtttctgtttcttctatgata	5	9	5	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:110673647A>T	uc003hzr.3	-	8	1125	c.917T>A	c.(916-918)ATT>AAT	p.I306N	CFI_uc003hzq.2_Missense_Mutation_p.I103N|CFI_uc011cft.1_Missense_Mutation_p.I314N|CFI_uc003hzs.3_Missense_Mutation_p.I299N	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	306					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AGCAGTCAAAATTTCTGTTTC	0.279													T	110673647	A	T	110673647	3	4	11	1	0	0	0	0	1	0	0	0	3289	101	4	5	858	5	CFI	4	110673647	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	1802978	110673647	80480629	300	9139											
PITX2	5308	broad.mit.edu	37	chr4	111539779	111539779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggcccgaagccattcttGcatagctcggcctgctggtt	12	13	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:111539779G>A	uc003iad.2	-	5	1038	c.456C>T	c.(454-456)TGC>TGT	p.C152C	PITX2_uc003iac.2_Silent_p.C159C|PITX2_uc003iae.2_Silent_p.C106C|PITX2_uc010iml.2_Silent_p.C23C|PITX2_uc003iaf.2_Silent_p.C152C	NM_153426	NP_700475	Q99697	PITX2_HUMAN	paired-like homeodomain transcription factor 2	152					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		AGCCATTCTTGCATAGCTCGG	0.577													A	111539779	G	A	111539779	2	1	11	1	0	0	0	0	0	0	0	1	11955	1311	46	2		2	PITX2	4	111539779	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	866132	111539779	79614497	301	9140											
UGT8	7368	broad.mit.edu	37	chr4	115597196	115597196	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcacaatggagcccatcacCtacgtgccgctgtccatcag	9	15	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:115597196C>A	uc003ibs.2	+	6	1900	c.1378C>A	c.(1378-1380)CTA>ATA	p.L460I	UGT8_uc003ibt.2_Missense_Mutation_p.L460I|UGT8_uc011cge.1_RNA	NM_001128174	NP_001121646	Q16880	CGT_HUMAN	UDP-galactose-ceramide galactosyltransferase 8	460					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			ovary(1)|skin(1)	2		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AGCCCATCACCTACGTGCCGC	0.418													A	115597196	C	A	115597196	3	1	11	1	0	0	0	0	1	0	0	0	16962	680	24	5	1396	5	UGT8	4	115597196	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	4057417	115597196	75557080	302	9141											
TRAM1L1	133022	broad.mit.edu	37	chr4	118005517	118005518	+	Frame_Shift_Ins	INS	-	-	T													cccactccgttttctgttctINSttttttagaagatctcgacc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:118005516_118005517C>CT	uc003ibv.4	-	0	1220_1221	c.1033_1034G>AG	c.(1033-1035)agafs	p.R345fs		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	345					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GTTTTCTGTTCTTTTTTTAGAA	0.386													T	118005518	-	T	118005517	7	5	11	1	0	1	1	0	0	0	0	0	16449	1617	56	0	80	0	TRAM1L1	4	118005517	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	2408321	118005517	73148759	303	9142											
MAD2L1	4085	broad.mit.edu	37	chr4	120981393	120981393	+	Frame_Shift_Del	DEL	T	T	-													tgtggtcccgactcttcccaTttttcaggtacaaccaaatc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:120981392_120981392AT>A	uc003idl.2	-	4	623	c.499_499AT>T	c.(499-501)tggfs	p.W167fs	MAD2L1_uc003idm.2_3'UTR	NM_002358	NP_002349	Q13257	MD2L1_HUMAN	Homo sapiens MAD2 mitotic arrest deficient-like 1 (yeast) (MAD2L1), mRNA.	167	HORMA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity	p.W167L(1)		breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						GACTCTTCCCATTTTTCAGGT	0.358													-	120981393	T	-	120981393	7	5	11	1	0	1	0	1	0	0	0	0	9148	1490	52	0	123	0	MAD2L1	4	120981393	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	2975876	120981393	70172883	304	9143											
FAT4	79633	broad.mit.edu	37	chr4	126328260	126328260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccaaattttccagacccGtgtactcttttgacattcct	4	14	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:126328260G>A	uc003ifj.3	+	3	5533	c.5533G>A	c.(5533-5535)GTG>ATG	p.V1845M	FAT4_uc011cgp.1_Missense_Mutation_p.V143M	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1845	Cadherin 18.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TTCCAGACCCGTGTACTCTTT	0.408													A	126328260	G	A	126328260	3	1	11	1	0	0	0	0	1	0	0	0	5692	1145	40	1	5543	1	FAT4	4	126328260	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	5346867	126328260	64826016	305	9144											
FAT4	79633	broad.mit.edu	37	chr4	126411935	126411935	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accaaaattttcaatccagaGgcacagtcccctaggctttg	7	12	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:126411935G>T	uc003ifj.3	+	17	13958	c.13958G>T	c.(13957-13959)AGG>ATG	p.R4653M	FAT4_uc011cgp.1_Missense_Mutation_p.R2894M|FAT4_uc003ifi.1_Missense_Mutation_p.R2130M	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4653	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TCAATCCAGAGGCACAGTCCC	0.507													T	126411935	G	T	126411935	3	4	11	1	0	0	0	0	1	0	0	0	5692	1000	35	5	14024	5	FAT4	4	126411935	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	83675	126411935	64742341	306	9145											
HSPA4L	22824	broad.mit.edu	37	chr4	128739575	128739575	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catacaggagccaaaacaaaGgtttggtttactttttctgt	8	7	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:128739575G>T	uc003ifm.2	+	13	1927	c.1674G>T	c.(1672-1674)AAG>AAT	p.K558N	HSPA4L_uc010iny.1_Missense_Mutation_p.K517N|HSPA4L_uc011cgr.1_Missense_Mutation_p.K525N	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	558					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						CCAAAACAAAGGTTTGGTTTA	0.313													T	128739575	G	T	128739575	3	4	11	1	0	0	0	0	1	0	0	0	7413	1014	35	5	1724	5	HSPA4L	4	128739575	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2327640	128739575	62414701	307	9146											
ZNF827	152485	broad.mit.edu	37	chr4	146807029	146807029	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaccagcaaaggcgagacGccagcccctccctggctagt	10	16	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:146807029G>A	uc003ikn.2	-	4	1596	c.1548C>T	c.(1546-1548)GGC>GGT	p.G516G	ZNF827_uc003ikm.2_Silent_p.G516G|ZNF827_uc010iox.2_Silent_p.G166G	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	516					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					AAGGCGAGACGCCAGCCCCTC	0.597													A	146807029	G	A	146807029	2	1	11	1	0	0	0	0	0	0	0	1	18177	1074	38	1		1	ZNF827	4	146807029	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	18067454	146807029	44347247	308	9147											
NR3C2	4306	broad.mit.edu	37	chr4	149002580	149002580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatctccaccagcattgcgGggaactctaccttcagcgca	9	14	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:149002580G>A	uc003ilj.3	-	9	3204	c.2870C>T	c.(2869-2871)CCC>CTC	p.P957L	NR3C2_uc003ilk.3_Missense_Mutation_p.P840L|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	957	Steroid-binding.			P->A: Slightly reduces aldosterone binding and transcription transactivation.	regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	CAGCATTGCGGGGAACTCTAC	0.602													A	149002580	G	A	149002580	3	1	11	1	0	0	0	0	1	0	0	0	10631	1232	43	4	88	4	NR3C2	4	149002580	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2195551	149002580	42151696	309	9148											
DCLK2	166614	broad.mit.edu	37	chr4	151023845	151023845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagcctagaaaagccgtgCggatccttctgaataaaaag	10	8	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:151023845C>T	uc003ilm.3	+	2	737	c.637C>T	c.(637-639)CGG>TGG	p.R213W	DCLK2_uc003iln.3_Missense_Mutation_p.R213W|DCLK2_uc003ilo.3_Missense_Mutation_p.R213W|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	213	Doublecortin 2.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					AAAAGCCGTGCGGATCCTTCT	0.418													T	151023845	C	T	151023845	3	4	11	1	0	0	0	0	1	0	0	0	4292	759	27	1	643	1	DCLK2	4	151023845	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2021265	151023845	40130431	310	9149											
DCLK2	166614	broad.mit.edu	37	chr4	151114360	151114360	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaccagaaaaatttcgttAtgcccaagatgactttgtcc	8	9	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:151114360A>G	uc003ilm.3	+	3	927	c.827A>G	c.(826-828)TAT>TGT	p.Y276C	DCLK2_uc003iln.3_Missense_Mutation_p.Y276C|DCLK2_uc003ilo.3_Missense_Mutation_p.Y276C|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	276	Doublecortin 2.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					AAATTTCGTTATGCCCAAGAT	0.368													G	151114360	A	G	151114360	3	3	11	1	0	0	0	0	1	0	0	0	4292	449	16	3	837	3	DCLK2	4	151114360	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	90515	151114360	40039916	311	9150											
FBXW7	55294	broad.mit.edu	37	chr4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaccctaagagtggcatctCgagaaccgctaacaactctg	8	12	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:153247366C>T	uc003ims.2	-	10	1585	c.1436G>A	c.(1435-1437)CGA>CAA	p.R479Q	FBXW7_uc011cii.1_Missense_Mutation_p.R479Q|FBXW7_uc003imt.2_Missense_Mutation_p.R479Q|FBXW7_uc011cih.1_Missense_Mutation_p.R303Q|FBXW7_uc003imq.2_Missense_Mutation_p.R399Q|FBXW7_uc003imr.2_Missense_Mutation_p.R361Q	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	479	WD 3.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R479Q(31)|p.R479L(7)|p.R479G(3)|p.R399Q(2)|p.R240L(1)|p.R399L(1)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403			Mis|N|D|F		colorectal|endometrial|T-ALL								T	153247366	C	T	153247366	3	4	11	1	0	0	0	0	1	0	0	0	5769	884	31	1	699	1	FBXW7	4	153247366	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2133006	153247366	37906910	312	9151											
FHDC1	85462	broad.mit.edu	37	chr4	153897541	153897541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgaactaccccgtgtccCgagctttgcccggaacacag	9	17	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:153897541C>T	uc003inf.2	+	11	3173	c.3098C>T	c.(3097-3099)CCG>CTG	p.P1033L		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1033					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					CCCCGTGTCCCGAGCTTTGCC	0.632													T	153897541	C	T	153897541	3	4	11	1	0	0	0	0	1	0	0	0	5876	652	23	1	3140	1	FHDC1	4	153897541	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	650175	153897541	37256735	313	9152											
PPID	5481	broad.mit.edu	37	chr4	159630906	159630906	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctaagcaaacatttttgcAtatactgccttctctttatc	3	10	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:159630906A>G	uc003iqc.2	-	10	1207	c.1095T>C	c.(1093-1095)TAT>TAC	p.Y365Y		NM_005038	NP_005029	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	365					protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		ACATTTTTGCATATACTGCCT	0.303													G	159630906	A	G	159630906	2	3	11	1	0	0	0	0	0	0	0	1	12321	224	8	3		3	PPID	4	159630906	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	5733365	159630906	31523370	314	9153											
RAPGEF2	9693	broad.mit.edu	37	chr4	160253767	160253767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgaacaaaaaaagtaaaGccaacactgtgggaggaagg	12	5	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:160253767G>A	uc003iqg.3	+	11	1880	c.1570G>A	c.(1570-1572)GCC>ACC	p.A524T		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	524					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAAAAGTAAAGCCAACACTGT	0.408													A	160253767	G	A	160253767	3	1	11	1	0	0	0	0	1	0	0	0	13044	971	34	2	1612	2	RAPGEF2	4	160253767	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	622861	160253767	30900509	315	9154											
FSTL5	56884	broad.mit.edu	37	chr4	162307355	162307355	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccatctggagagacatatggAgtgcccgtcacatcactatt	9	11	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:162307355A>T	uc003iqh.2	-	16	2524	c.2088T>A	c.(2086-2088)ACT>ACA	p.T696T	FSTL5_uc003iqi.2_Silent_p.T695T|FSTL5_uc010iqv.2_Silent_p.T686T|uc010iqu.1_RNA	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	696						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGACATATGGAGTGCCCGTCA	0.488													T	162307355	A	T	162307355	2	4	11	1	0	0	0	0	0	0	0	1	6080	291	11	5		5	FSTL5	4	162307355	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	2053588	162307355	28846921	316	9155											
MFAP3L	9848	broad.mit.edu	37	chr4	170926737	170926737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttaaagcctacctcctcCtctctccttctcatcctctt	1	18	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:170926737C>T	uc003isp.3	-	2	470	c.292G>A	c.(292-294)GGA>AGA	p.G98R	MFAP3L_uc003isn.3_5'Flank	NM_021647	NP_067679	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like isoform	98	Extracellular (Potential).|Ig-like C2-type.					integral to membrane|plasma membrane				ovary(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CTACCTCCTCCTCTCTCCTTC	0.408													T	170926737	C	T	170926737	3	4	11	1	0	0	0	0	1	0	0	0	9516	690	24	4	945	4	MFAP3L	4	170926737	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	8619382	170926737	20227539	317	9156											
AADAT	51166	broad.mit.edu	37	chr4	171008379	171008379	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttatttgtaactgttttagcCaggacaaaagctctggaatt	8	6	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:171008379C>A	uc003isr.2	-	3	599	c.257G>T	c.(256-258)TGG>TTG	p.W86L	AADAT_uc003iss.2_Missense_Mutation_p.W86L|AADAT_uc003ist.2_Missense_Mutation_p.W90L	NM_016228	NP_057312	Q8N5Z0	AADAT_HUMAN	kynurenine aminotransferase II	86					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity				0		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTGTTTTAGCCAGGACAAAAG	0.343													A	171008379	C	A	171008379	3	1	11	1	0	0	0	0	1	0	0	0	14	595	21	5	1064	5	AADAT	4	171008379	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	81642	171008379	20145897	318	9157											
HMGB2	3148	broad.mit.edu	37	chr4	174254712	174254714	+	In_Frame_Del	DEL	TTC	TTC	-													tgacggaagagtccgggtgtTtcttcttgtgctcttcccgg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:174254711_174254713TTTC>T	uc011ckc.1	-	0	208_210	c.88_90GAAA>A	c.(88-90)aaa>A	p.K30del	HMGB2_uc003ita.3_In_Frame_Del_p.K30del|HMGB2_uc003itb.2_In_Frame_Del_p.K30del	NM_001130689	NP_002120	P26583	HMGB2_HUMAN	Homo sapiens high mobility group box 2 (HMGB2), transcript variant 3, mRNA.	30					DNA fragmentation involved in apoptotic nuclear change|DNA topological change|V(D)J recombination|base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	DNA bending activity|RAGE receptor binding|chemoattractant activity|damaged DNA binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		AGTCCGGGTGTTTCTTCTTGTGC	0.567													-	174254714	TTC	-	174254712	7	5	11	1	0	1	0	1	0	0	0	0	7226	1841	64	0	556	0	HMGB2	4	174254712	In_Frame_Del	DEL	TTC	TCGA-BR-4256-01A-01D-1126-08	3246333	174254712	16899564	319	9158											
SORBS2	8470	broad.mit.edu	37	chr4	186545449	186545449	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatttgattttgggagagacGgtttcttccgtgctgctcca	12	8	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:186545449G>A	uc003iyl.2	-	13	1980	c.1122C>T	c.(1120-1122)ACC>ACT	p.T374T	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.T474T|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.T278T|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.T488T|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	374						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TGGGAGAGACGGTTTCTTCCG	0.542													A	186545449	G	A	186545449	2	1	11	1	0	0	0	0	0	0	0	1	14928	1103	39	1		1	SORBS2	4	186545449	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	12290737	186545449	4608827	320	9159											
TLR3	7098	broad.mit.edu	37	chr4	186997805	186997806	+	Frame_Shift_Ins	INS	-	-	G													ttgccttgtatctacttttgINSggggggccttttgccctttg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:186997804_186997805T>TG	uc003iyq.3	+	1	132_133	c.31_32T>TG	c.(31-33)tggfs	p.W11fs		NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	11					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446													G	186997806	-	G	186997805	7	5	11	1	0	1	1	0	0	0	0	0	15949	1357	47	0	34	0	TLR3	4	186997805	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	452356	186997805	4156471	321	9160											
FAT1	2195	broad.mit.edu	37	chr4	187524858	187524858	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacattgagaaggtattgccCtatgtctagctttttgtgtg	11	6	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:187524858C>A	uc003izf.2	-	19	11010	c.10822G>T	c.(10822-10824)GGG>TGG	p.G3608W		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3608	Extracellular (Potential).|Cadherin 33.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						AGGTATTGCCCTATGTCTAGC	0.483										HNSCC(5;0.00058)			A	187524858	C	A	187524858	3	1	11	1	0	0	0	0	1	0	0	0	5689	681	24	5	2980	5	FAT1	4	187524858	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	527053	187524858	3629418	322	9161											
ZFP42	132625	broad.mit.edu	37	chr4	188924151	188924151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctggccctcaggctctcGgaggggatgatttctcagac	13	12	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:188924151G>A	uc003izg.1	+	3	435	c.190G>A	c.(190-192)GGA>AGA	p.G64R	ZFP42_uc003izh.1_Missense_Mutation_p.G64R|ZFP42_uc003izi.1_Missense_Mutation_p.G64R	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	64					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TCAGGCTCTCGGAGGGGATGA	0.507													A	188924151	G	A	188924151	3	1	11	1	0	0	0	0	1	0	0	0	17647	1117	39	1	192	1	ZFP42	4	188924151	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1399293	188924151	2230125	323	9162											
ADCY2	108	broad.mit.edu	37	chr5	7626360	7626360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatggaactcgctcttcaGcaaacatatcaggacacctg	7	13	4	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:7626360G>A	uc003jdz.1	+	4	718	c.651G>A	c.(649-651)CAG>CAA	p.Q217Q		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	217	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						TCGCTCTTCAGCAAACATATC	0.438													A	7626360	G	A	7626360	2	1	11	1	0	0	0	0	0	0	0	1	294	962	34	2		2	ADCY2	5	7626360	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08		7626360	173288900	324	9163											
CTNND2	1501	broad.mit.edu	37	chr5	11364843	11364843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgccggtgtgtgctggcGgcagagggtccccctggctc	18	12	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:11364843G>A	uc003jfa.1	-	8	1482	c.1337C>T	c.(1336-1338)CCG>CTG	p.P446L	CTNND2_uc010itt.2_Missense_Mutation_p.P355L|CTNND2_uc011cmy.1_Missense_Mutation_p.P109L|CTNND2_uc011cmz.1_Missense_Mutation_p.P13L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.P13L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	446					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						GTGTGCTGGCGGCAGAGGGTC	0.622													A	11364843	G	A	11364843	3	1	11	1	0	0	0	0	1	0	0	0	4020	1116	39	1	2400	1	CTNND2	5	11364843	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3738483	11364843	169550417	325	9164											
TRIO	7204	broad.mit.edu	37	chr5	14504649	14504649	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccagcaccccctgcttgtCggcctcctcgacacctttga	7	19	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:14504649C>T	uc003jff.2	+	55	8565	c.8559C>T	c.(8557-8559)GTC>GTT	p.V2853V	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2853	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					CCCTGCTTGTCGGCCTCCTCG	0.587													T	14504649	C	T	14504649	2	4	11	1	0	0	0	0	0	0	0	1	16549	871	31	1		1	TRIO	5	14504649	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3139806	14504649	166410611	326	9165											
ZNF622	90441	broad.mit.edu	37	chr5	16465635	16465635	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccgcactcgctcctggAagccctcggcggtcactggg	14	17	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:16465635A>G	uc003jfq.2	-	1	260	c.140T>C	c.(139-141)TTC>TCC	p.F47S		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	zinc finger protein 622	47						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						TCGCTCCTGGAAGCCCTCGGC	0.662													G	16465635	A	G	16465635	3	3	11	1	0	0	0	0	1	0	0	0	18043	246	9	3	1317	3	ZNF622	5	16465635	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	1960986	16465635	164449625	327	9166											
CDH10	1008	broad.mit.edu	37	chr5	24537611	24537611	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctctactggcctcagagttCttctgttaatagcttgtgcg	10	10	4	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:24537611C>A	uc003jgr.1	-	3	736	c.404G>T	c.(403-405)AGA>ATA	p.R135I	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	135	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		CCTCAGAGTTCTTCTGTTAAT	0.393										HNSCC(23;0.051)			A	24537611	C	A	24537611	3	1	11	1	0	0	0	0	1	0	0	0	3096	913	32	5	2002	5	CDH10	5	24537611	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	8071976	24537611	156377649	328	9167											
AGXT2	64902	broad.mit.edu	37	chr5	35025913	35025913	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgctcgcaccagctcaaaGgcttcctttagaaacccctt	6	15	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:35025913G>T	uc003jjf.2	-	9	997	c.918C>A	c.(916-918)GCC>GCA	p.A306A	AGXT2_uc003jje.1_5'UTR|AGXT2_uc011com.1_Silent_p.A306A	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	alanine-glyoxylate aminotransferase 2 precursor	306					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(3)|skin(1)	4	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	CCAGCTCAAAGGCTTCCTTTA	0.493													T	35025913	G	T	35025913	2	4	11	1	0	0	0	0	0	0	0	1	405	987	35	5		5	AGXT2	5	35025913	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	10488302	35025913	145889347	329	9168											
C5orf34	375444	broad.mit.edu	37	chr5	43488034	43488034	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaacttctgtatcttttcaAgttcagaagcaacagacctg	6	9	4	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:43488034A>C	uc003jnz.1	-	13	2014	c.1697T>G	c.(1696-1698)CTT>CGT	p.L566R		NM_198566	NP_940968	Q96MH7	CE034_HUMAN	hypothetical protein LOC375444	566										breast(1)	1	Lung NSC(6;2.07e-05)					TATCTTTTCAAGTTCAGAAGC	0.318													C	43488034	A	C	43488034	3	2	11	1	0	0	0	0	1	0	0	0	2293	72	3	5	227	5	C5orf34	5	43488034	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	8462121	43488034	137427226	330	9169											
HCN1	348980	broad.mit.edu	37	chr5	45262407	45262407	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttgtgcacttcatttttCggcgtggagctgccaggtgt	12	10	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:45262407C>T	uc003jok.2	-	8	2314	c.2289G>A	c.(2287-2289)CCG>CCA	p.P763P		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	763	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						CTTCATTTTTCGGCGTGGAGC	0.443													T	45262407	C	T	45262407	2	4	11	1	0	0	0	0	0	0	0	1	6996	871	31	1		1	HCN1	5	45262407	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1774373	45262407	135652853	331	9170											
ISL1	3670	broad.mit.edu	37	chr5	50685764	50685764	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagcagcccaatgacaaaActgtgagtggctctggggcc	13	11	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:50685764A>G	uc003jor.2	+	4	1311	c.763A>G	c.(763-765)ACT>GCT	p.T255A		NM_002202	NP_002193	P61371	ISL1_HUMAN	islet-1	255	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3		Lung NSC(810;0.000845)|Breast(144;0.0411)				CAATGACAAAACTGTGAGTGG	0.577													G	50685764	A	G	50685764	3	3	11	1	0	0	0	0	1	0	0	0	7856	43	2	3	777	3	ISL1	5	50685764	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	5423357	50685764	130229496	332	9171											
ANKRD55	79722	broad.mit.edu	37	chr5	55407543	55407543	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaatatttggttgagcacGttgaaccgtctctccttctt	8	10	2	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:55407543G>A	uc003jqu.2	-	10	1184	c.1032C>T	c.(1030-1032)AAC>AAT	p.N344N	ANKRD55_uc003jqt.2_Silent_p.N56N	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	343										skin(1)	1		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GGTTGAGCACGTTGAACCGTC	0.512													A	55407543	G	A	55407543	2	1	11	1	0	0	0	0	0	0	0	1	681	1136	40	1		1	ANKRD55	5	55407543	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	4721779	55407543	125507717	333	9172											
GPBP1	65056	broad.mit.edu	37	chr5	56546862	56546862	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacttcgatgaaaatgaaAttcctcaagagaatggcaat	8	6	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:56546862A>G	uc003jrh.3	+	10	2328	c.1054A>G	c.(1054-1056)ATT>GTT	p.I352V	GPBP1_uc010iwg.2_Missense_Mutation_p.I372V|GPBP1_uc003jri.3_Missense_Mutation_p.I181V|GPBP1_uc003jrj.3_Missense_Mutation_p.I344V|GPBP1_uc003jrk.3_Missense_Mutation_p.I359V|GPBP1_uc003jrl.3_RNA	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1 isoform 1	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			large_intestine(1)|central_nervous_system(1)	2		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		TGAAAATGAAATTCCTCAAGA	0.383													G	56546862	A	G	56546862	3	3	11	1	0	0	0	0	1	0	0	0	6595	101	4	3	1109	3	GPBP1	5	56546862	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	1139319	56546862	124368398	334	9173											
ACTBL2	345651	broad.mit.edu	37	chr5	56778014	56778014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatccaggcgtagaatggcaTgaggcagggcataaccttca	13	9	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:56778014T>C	uc003jrm.2	-	1	623	c.521A>G	c.(520-522)CAT>CGT	p.H174R		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	actin, beta-like 2	174						cytoplasm|cytoskeleton	ATP binding			ovary(3)	3		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TAGAATGGCATGAGGCAGGGC	0.552													C	56778014	T	C	56778014	3	2	11	1	0	0	0	0	1	0	0	0	194	1464	51	3	613	3	ACTBL2	5	56778014	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	231152	56778014	124137246	335	9174											
RNF180	285671	broad.mit.edu	37	chr5	63509571	63509571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagtgaaatacttgtcaCatcctagagttcagtcaggt	8	9	4	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:63509571C>T	uc003jti.2	+	4	528	c.418C>T	c.(418-420)CAT>TAT	p.H140Y	RNF180_uc003jth.3_Missense_Mutation_p.H140Y|RNF180_uc010iws.2_Intron	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN	ring finger protein 180 isoform 1	140	Cytoplasmic (Potential).					integral to membrane|nuclear envelope	zinc ion binding				0		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		ATACTTGTCACATCCTAGAGT	0.473													T	63509571	C	T	63509571	3	4	11	1	0	0	0	0	1	0	0	0	13464	478	17	4	428	4	RNF180	5	63509571	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	6731557	63509571	117405689	336	9175											
TRIM23	373	broad.mit.edu	37	chr5	64887740	64887740	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatggagactgagtagttcAgtgatttcttctactgacag	10	6	3	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:64887740A>G	uc003jty.2	-	11	1667	c.1581T>C	c.(1579-1581)ACT>ACC	p.T527T	TRIM23_uc003jtw.2_Silent_p.T527T|TRIM23_uc003jtx.2_Silent_p.T527T	NM_001656	NP_001647	P36406	TRI23_HUMAN	ADP-ribosylation factor domain protein 1 isoform	527	ARF-like.				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TGAGTAGTTCAGTGATTTCTT	0.398													G	64887740	A	G	64887740	2	3	11	1	0	0	0	0	0	0	0	1	16494	175	7	3		3	TRIM23	5	64887740	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	1378169	64887740	116027520	337	9176											
SV2C	22987	broad.mit.edu	37	chr5	75597266	75597266	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcctttggttcggcaccagTgaatccatgatgataggcat	10	9	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:75597266T>A	uc003kei.1	+	12	2030	c.1896T>A	c.(1894-1896)AGT>AGA	p.S632R		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	632	Extracellular (Potential).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCGGCACCAGTGAATCCATGA	0.498													A	75597266	T	A	75597266	3	1	11	1	0	0	0	0	1	0	0	0	15416	1693	59	5	1938	5	SV2C	5	75597266	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	10709526	75597266	105317994	338	9177											
ARSB	411	broad.mit.edu	37	chr5	78077720	78077720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttccatgtctaattgcagCatggacagatgtgttaaagg	10	6	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:78077720C>T	uc003kfq.2	-	7	2577	c.1291G>A	c.(1291-1293)GCT>ACT	p.A431T		NM_000046	NP_000037	P15848	ARSB_HUMAN	arylsulfatase B isoform 1 precursor	431					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			upper_aerodigestive_tract(1)	1		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CTAATTGCAGCATGGACAGAT	0.473													T	78077720	C	T	78077720	3	4	11	1	0	0	0	0	1	0	0	0	988	710	25	2	318	2	ARSB	5	78077720	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2480454	78077720	102837540	339	9178											
MTX3	345778	broad.mit.edu	37	chr5	79279521	79279521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactctcagggcgaaagccGttggaaggaattattttctt	10	8	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:79279521G>A	uc010jag.2	-	9	952	c.925C>T	c.(925-927)CGG>TGG	p.R309W	MTX3_uc010jah.2_3'UTR|MTX3_uc003kge.3_Missense_Mutation_p.R248W	NM_001010891	NP_001010891	Q5HYI7	MTX3_HUMAN	metaxin 3	309					protein targeting to mitochondrion	mitochondrial outer membrane					0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		GGCGAAAGCCGTTGGAAGGAA	0.443													A	79279521	G	A	79279521	3	1	11	1	0	0	0	0	1	0	0	0	9969	1144	40	1	17	1	MTX3	5	79279521	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1201801	79279521	101635739	340	9179											
FAM151B	167555	broad.mit.edu	37	chr5	79837534	79837534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaaaatgataactattcCgttgaagatttactttacat	6	5	0	3	rs138264758	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:79837534C>T	uc003kgv.1	+	6	857	c.714C>T	c.(712-714)TCC>TCT	p.S238S	FAM151B_uc010jal.1_RNA	NM_205548	NP_991111	Q6UXP7	F151B_HUMAN	hypothetical protein LOC167555	238											0		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		ATAACTATTCCGTTGAAGATT	0.323													T	79837534	C	T	79837534	2	4	11	1	0	0	0	0	0	0	0	1	5459	639	23	1		1	FAM151B	5	79837534	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	558013	79837534	101077726	341	9180											
RASGRF2	5924	broad.mit.edu	37	chr5	80521544	80521544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttatcatagatgaagatacGctatatgagctgtcactaaa	7	7	2	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:80521544G>A	uc003kha.1	+	27	3669	c.3669G>A	c.(3667-3669)ACG>ACA	p.T1223T	RNU5E_uc011cto.1_Intron|RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	1223	Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATGAAGATACGCTATATGAGC	0.468													A	80521544	G	A	80521544	2	1	11	1	0	0	0	0	0	0	0	1	13073	1074	38	1		1	RASGRF2	5	80521544	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	684010	80521544	100393716	342	9181											
CKMT2	1160	broad.mit.edu	37	chr5	80550855	80550855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattacgtgctgtcttctcGggtgcgcactggccgcagca	13	13	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:80550855G>A	uc003khc.3	+	6	733	c.491G>A	c.(490-492)CGG>CAG	p.R164Q	RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Missense_Mutation_p.R164Q|CKMT2_uc003khd.3_Missense_Mutation_p.R164Q|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	sarcomeric mitochondrial creatine kinase	164	Phosphagen kinase C-terminal.|ATP.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CTGTCTTCTCGGGTGCGCACT	0.652													A	80550855	G	A	80550855	3	1	11	1	0	0	0	0	1	0	0	0	3451	1116	39	1	505	1	CKMT2	5	80550855	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	29311	80550855	100364405	343	9182											
SSBP2	23635	broad.mit.edu	37	chr5	80724431	80724431	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaaaaggatttaagaaAtttccccccatttcgccatc	5	12	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:80724431A>T	uc003kho.2	-	16	1240	c.1029T>A	c.(1027-1029)AAT>AAA	p.N343K	RNU5E_uc011cto.1_Intron|SSBP2_uc010jar.2_Missense_Mutation_p.N228K|SSBP2_uc003khn.2_Missense_Mutation_p.N217K|SSBP2_uc003khp.2_Missense_Mutation_p.N351K|SSBP2_uc011ctp.1_Missense_Mutation_p.N323K|SSBP2_uc011ctq.1_Missense_Mutation_p.N321K|SSBP2_uc011ctr.1_Intron	NM_012446	NP_036578	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	343					regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	haematopoietic_and_lymphoid_tissue(4)|skin(1)	5		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		GATTTAAGAAATTTCCCCCCA	0.363													T	80724431	A	T	80724431	3	4	11	1	0	0	0	0	1	0	0	0	15179	98	4	5	64	5	SSBP2	5	80724431	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	173576	80724431	100190829	344	9183											
TMEM161B	153396	broad.mit.edu	37	chr5	87502851	87502851	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatgaaactattacctgttTcaagtccaaattccagataa	5	8	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:87502851T>C	uc003kjc.2	-	6	718	c.593A>G	c.(592-594)GAA>GGA	p.E198G	TMEM161B_uc011cty.1_Missense_Mutation_p.E187G|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctz.1_Missense_Mutation_p.E65G|TMEM161B_uc011ctx.1_Missense_Mutation_p.E16G	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	198						integral to membrane				skin(2)	2		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		ATTACCTGTTTCAAGTCCAAA	0.289													C	87502851	T	C	87502851	3	2	11	1	0	0	0	0	1	0	0	0	16074	1783	62	3	898	3	TMEM161B	5	87502851	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	6778420	87502851	93412409	345	9184											
ANKRD32	84250	broad.mit.edu	37	chr5	94030563	94030563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttttacaacagaggaatgCtaagggagaattgcccttgg	12	7	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:94030563C>T	uc003kkr.3	+	21	2803	c.2723C>T	c.(2722-2724)GCT>GTT	p.A908V	ANKRD32_uc003kks.2_Missense_Mutation_p.A272V	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	908										ovary(2)	2		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CAGAGGAATGCTAAGGGAGAA	0.368													T	94030563	C	T	94030563	3	4	11	1	0	0	0	0	1	0	0	0	660	797	28	2	2801	2	ANKRD32	5	94030563	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	6527712	94030563	86884697	346	9185											
ST8SIA4	7903	broad.mit.edu	37	chr5	100191911	100191911	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacgtgcttctctcctccTttgaccatgaaagcaggaat	7	13	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:100191911T>G	uc003knk.2	-	4	1021	c.693A>C	c.(691-693)AAA>AAC	p.K231N		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	231	Lumenal (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TCTCTCCTCCTTTGACCATGA	0.418													G	100191911	T	G	100191911	3	3	11	1	0	0	0	0	1	0	0	0	15233	1606	56	5	394	5	ST8SIA4	5	100191911	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	6161348	100191911	80723349	347	9186											
YTHDC2	64848	broad.mit.edu	37	chr5	112862461	112862461	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttttgattgtaggagaaacTgggtctggaaagaccacaca	12	6	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:112862461T>C	uc003kqn.2	+	4	837	c.654T>C	c.(652-654)ACT>ACC	p.T218T	YTHDC2_uc010jce.1_Silent_p.T218T|YTHDC2_uc010jcf.1_Intron	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	218	Helicase ATP-binding.|ATP (By similarity).						ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TAGGAGAAACTGGGTCTGGAA	0.249													C	112862461	T	C	112862461	2	2	11	1	0	0	0	0	0	0	0	1	17494	1567	55	3		3	YTHDC2	5	112862461	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	12670550	112862461	68052799	348	9187											
ZNF608	57507	broad.mit.edu	37	chr5	123984684	123984684	+	Frame_Shift_Del	DEL	C	C	-													ccgcctccctttcccattggCcccccctctgttcttattct							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:123984683_123984683GC>G	uc003ktq.1	-	3	1577	c.1394_1394GC>C	c.(1393-1395)gccfs	p.A465fs	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Frame_Shift_Del_p.A465fs|ZNF608_uc003ktt.1_Frame_Shift_Del_p.A465fs	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	465						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTTCCCATTGGCCCCCCCTCT	0.627													-	123984684	C	-	123984684	7	5	11	1	0	1	0	1	0	0	0	0	18031	739	26	0	3169	0	ZNF608	5	123984684	Frame_Shift_Del	DEL	C	TCGA-BR-4256-01A-01D-1126-08	11122223	123984684	56930576	349	9188											
LMNB1	4001	broad.mit.edu	37	chr5	126168436	126168436	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaccatacctgaagaagaGgaggaggaggaagaagcagc	14	7	0	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:126168436G>A	uc003kud.1	+	10	2030	c.1662G>A	c.(1660-1662)GAG>GAA	p.E554E	LMNB1_uc010jdb.1_RNA|LMNB1_uc011cxb.1_Silent_p.E344E	NM_005573	NP_005564	P20700	LMNB1_HUMAN	lamin B1	554	Glu-rich (highly acidic; could be involved in chromatin binding).|Tail.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			kidney(1)|central_nervous_system(1)	2		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		CTGAAGAAGAGGAGGAGGAGG	0.318													A	126168436	G	A	126168436	2	1	11	1	0	0	0	0	0	0	0	1	8849	991	35	4		4	LMNB1	5	126168436	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2183752	126168436	54746824	350	9189											
FBN2	2201	broad.mit.edu	37	chr5	127599223	127599223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggacgagcactcattcaCgtcgtggcaggcactggaga	15	10	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:127599223C>T	uc003kuu.2	-	63	8525	c.8086G>A	c.(8086-8088)GTG>ATG	p.V2696M		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2696	EGF-like 47; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACTCATTCACGTCGTGGCAG	0.607													T	127599223	C	T	127599223	3	4	11	1	0	0	0	0	1	0	0	0	5703	536	19	1	664	1	FBN2	5	127599223	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1430787	127599223	53316037	351	9190											
SLC27A6	28965	broad.mit.edu	37	chr5	128365383	128365383	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccagcttatgcttgtccaCgatttttaagaattcaggta	7	8	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:128365383C>T	uc003kuy.2	+	10	2062	c.1666C>T	c.(1666-1668)CGA>TGA	p.R556*	SLC27A6_uc003kuz.2_Nonsense_Mutation_p.R556*	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	556					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGCTTGTCCACGATTTTTAAG	0.294													T	128365383	C	T	128365383	4	4	11	1	0	0	0	0	0	1	0	0	14530	528	19	1	1700	1	SLC27A6	5	128365383	Nonsense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	766160	128365383	52549877	352	9191											
ACSL6	23305	broad.mit.edu	37	chr5	131326646	131326646	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacccaatcacagatcgccgTgccccgccactgtcctacaa	7	18	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:131326646T>C	uc010jdo.1	-	3	293	c.210A>G	c.(208-210)GCA>GCG	p.A70A	ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Silent_p.A95A|ACSL6_uc003kvy.1_Silent_p.A95A|ACSL6_uc003kwb.2_Silent_p.A60A|ACSL6_uc003kvz.1_Silent_p.A35A|ACSL6_uc003kwa.1_Silent_p.A81A|ACSL6_uc003kwc.1_Silent_p.A35A|ACSL6_uc003kwd.1_Silent_p.A70A|ACSL6_uc010jdn.1_Silent_p.A70A	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	70	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGATCGCCGTGCCCCGCCAC	0.607													C	131326646	T	C	131326646	2	2	11	1	0	0	0	0	0	0	0	1	181	1683	59	3		3	ACSL6	5	131326646	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	2961263	131326646	49588614	353	9192											
SLC22A4	6583	broad.mit.edu	37	chr5	131647935	131647935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgctcctcggctccttcGtgtccgggcagctgtcagac	13	15	1	1	rs11568509	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:131647935G>A	uc003kwq.2	+	2	640	c.475G>A	c.(475-477)GTG>ATG	p.V159M	SLC22A4_uc010jdq.1_RNA|uc003kwr.3_RNA	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	solute carrier family 22 member 4	159	Helical; Name=2; (Potential).				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity				0		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CGGCTCCTTCGTGTCCGGGCA	0.577													A	131647935	G	A	131647935	3	1	11	1	0	0	0	0	1	0	0	0	14456	1145	40	1	481	1	SLC22A4	5	131647935	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	321289	131647935	49267325	354	9193											
RAD50	10111	broad.mit.edu	37	chr5	131926968	131926968	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgtagaaaccttaaaaaTggaagtaataagtctccaaa	6	6	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:131926968T>C	uc003kxi.2	+	10	1892	c.1505T>C	c.(1504-1506)ATG>ACG	p.M502T	RAD50_uc003kxh.2_Missense_Mutation_p.M363T	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	502	Potential.				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCTTAAAAATGGAAGTAATA	0.368								Homologous_recombination					C	131926968	T	C	131926968	3	2	11	1	0	0	0	0	1	0	0	0	12984	1464	51	3	1543	3	RAD50	5	131926968	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	279033	131926968	48988292	355	9194											
PCBD2	84105	broad.mit.edu	37	chr5	134246093	134246093	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgaccttaaagcagcaggAtggtcggaattaagtgagag	13	6	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:134246093A>G	uc010jdz.2	+	2	173	c.153A>G	c.(151-153)GGA>GGG	p.G51G	PCBD2_uc011cxw.1_Silent_p.G51G	NM_032151	NP_115527	Q9H0N5	PHS2_HUMAN	pterin-4 alpha-carbinolamine dehydratase 2	51					positive regulation of transcription, DNA-dependent|tetrahydrobiopterin biosynthetic process		4-alpha-hydroxytetrahydrobiopterin dehydratase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAGCAGCAGGATGGTCGGAAT	0.393													G	134246093	A	G	134246093	2	3	11	1	0	0	0	0	0	0	0	1	11499	320	12	3		3	PCBD2	5	134246093	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	2319125	134246093	46669167	356	9195											
DNAJC18	202052	broad.mit.edu	37	chr5	138758500	138758500	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagctgaataaatgcagaatAtgtagtctgaaaaagaaaaa	8	3	1	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:138758500A>G	uc003len.2	-	6	681	c.676T>C	c.(676-678)TAT>CAT	p.Y226H	DNAJC18_uc010jff.2_Missense_Mutation_p.Y164H	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	226					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)|kidney(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AATGCAGAATATGTAGTCTGA	0.239													G	138758500	A	G	138758500	3	3	11	1	0	0	0	0	1	0	0	0	4637	449	16	3	412	3	DNAJC18	5	138758500	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	4512407	138758500	42156760	357	9196											
NRG2	9542	broad.mit.edu	37	chr5	139260458	139260458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccgctgttgacgtaaagcCggccccggacggtgtccttc	12	14	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:139260458C>T	uc003lex.1	-	3	1199	c.974G>A	c.(973-975)CGG>CAG	p.R325Q	NRG2_uc003lev.1_Missense_Mutation_p.R325Q|NRG2_uc003lew.1_Missense_Mutation_p.R325Q|NRG2_uc003ley.1_Missense_Mutation_p.R325Q	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	325	Ig-like C2-type.|Extracellular (Potential).				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|breast(2)|ovary(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGTAAAGCCGGCCCCGGAC	0.632													T	139260458	C	T	139260458	3	4	11	1	0	0	0	0	1	0	0	0	10648	652	23	1	1701	1	NRG2	5	139260458	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	501958	139260458	41654802	358	9197											
PCDHA1	56147	broad.mit.edu	37	chr5	140167635	140167635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgccgcgattggtgggtgCgggtcatgtggtggcgaagg	22	6	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:140167635C>T	uc003lhb.2	+	1	1760	c.1760C>T	c.(1759-1761)GCG>GTG	p.A587V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.A587V	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	587	Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGTGGGTGCGGGTCATGTG	0.672													T	140167635	C	T	140167635	3	4	11	1	0	0	0	0	1	0	0	0	11519	768	27	1	1762	1	PCDHA1	5	140167635	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	907177	140167635	40747625	359	9198											
PCDHA2	56146	broad.mit.edu	37	chr5	140176220	140176220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggtgttcgtgctggaCgagaacgacaacgcgccggc	15	12	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:140176220C>T	uc003lhd.2	+	1	1777	c.1671C>T	c.(1669-1671)GAC>GAT	p.D557D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.D557D|PCDHA2_uc011czy.1_Silent_p.D557D	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	557	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.687													T	140176220	C	T	140176220	2	4	11	1	0	0	0	0	0	0	0	1	11524	535	19	1		1	PCDHA2	5	140176220	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	8585	140176220	40739040	360	9199											
PCDHA8	56140	broad.mit.edu	37	chr5	140222221	140222221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccttcgctgtgggccaccGccagcttgtctgtggaggtg	15	13	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:140222221G>A	uc003lhs.2	+	1	1315	c.1315G>A	c.(1315-1317)GCC>ACC	p.A439T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.A439T	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	439	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGCCACCGCCAGCTTGTC	0.667													A	140222221	G	A	140222221	3	1	11	1	0	0	0	0	1	0	0	0	11530	1087	38	1	1317	1	PCDHA8	5	140222221	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	46001	140222221	40693039	361	9200											
PCDHA12	56137	broad.mit.edu	37	chr5	140256301	140256301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggacagcgccctggaccGcgagagcgtgtcggcctatg	16	13	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:140256301G>A	uc003lic.2	+	1	1371	c.1244G>A	c.(1243-1245)CGC>CAC	p.R415H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.R415H	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	415	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGGACCGCGAGAGCGTG	0.612													A	140256301	G	A	140256301	3	1	11	1	0	0	0	0	1	0	0	0	11522	1087	38	1	1246	1	PCDHA12	5	140256301	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	34080	140256301	40658959	362	9201											
PCDHB2	56133	broad.mit.edu	37	chr5	140474624	140474624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagttcgataggcagaccGgggatttgttgttaaatgag	14	5	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:140474624G>A	uc003lil.2	+	1	388	c.250G>A	c.(250-252)GGG>AGG	p.G84R	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	84	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAGGCAGACCGGGGATTTGTT	0.507													A	140474624	G	A	140474624	3	1	11	1	0	0	0	0	1	0	0	0	11542	1116	39	1	252	1	PCDHB2	5	140474624	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	218323	140474624	40440636	363	9202											
PCDHB7	56129	broad.mit.edu	37	chr5	140554636	140554636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtggacttgagcggcacCgggaccctatcccagagcta	13	13	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:140554636C>T	uc003lit.2	+	1	2394	c.2220C>T	c.(2218-2220)ACC>ACT	p.T740T	PCDHB8_uc011dai.1_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	740	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGGCACCGGGACCCTAT	0.617													T	140554636	C	T	140554636	2	4	11	1	0	0	0	0	0	0	0	1	11547	639	23	1		1	PCDHB7	5	140554636	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	80012	140554636	40360624	364	9203											
PCDHB8	56128	broad.mit.edu	37	chr5	140558582	140558582	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaagtcaatatcgaggcgAgagatgctggaggcttttct	13	6	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:140558582A>G	uc011dai.1	+	1	1153	c.967A>G	c.(967-969)AGA>GGA	p.R323G	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	323	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATCGAGGCGAGAGATGCTGG	0.413													G	140558582	A	G	140558582	3	3	11	1	0	0	0	0	1	0	0	0	11548	296	11	3	969	3	PCDHB8	5	140558582	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	3946	140558582	40356678	365	9204											
PCDHGA1	56114	broad.mit.edu	37	chr5	140711018	140711018	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtccccgaaaacgtgcCgctgggtactcagctgctca	10	13	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:140711018C>A	uc003lji.1	+	1	767	c.767C>A	c.(766-768)CCG>CAG	p.P256Q	PCDHGA1_uc011dan.1_Missense_Mutation_p.P256Q	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	256	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAACGTGCCGCTGGGTACT	0.493													A	140711018	C	A	140711018	3	1	11	1	0	0	0	0	1	0	0	0	11550	652	23	5	769	5	PCDHGA1	5	140711018	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	152436	140711018	40204242	366	9205											
PCDHGA6	56109	broad.mit.edu	37	chr5	140753898	140753898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaatccgcgaaacggcaGcttggtcaccgcgggtagga	14	11	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:140753898G>A	uc003ljy.1	+	1	248	c.248G>A	c.(247-249)AGC>AAC	p.S83N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.S83N	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	83	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAAACGGCAGCTTGGTCACC	0.567													A	140753898	G	A	140753898	3	1	11	1	0	0	0	0	1	0	0	0	11558	971	34	2	250	2	PCDHGA6	5	140753898	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	42880	140753898	40161362	367	9206											
PCDHGB6	56100	broad.mit.edu	37	chr5	140789013	140789013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccctggaccgagagcagaCaccagaatacaatgtcacca	9	13	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:140789013C>T	uc003lkj.1	+	1	1244	c.1244C>T	c.(1243-1245)ACA>ATA	p.T415I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.T415I	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	415	Extracellular (Potential).|Cadherin 4.				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)			CGAGAGCAGACACCAGAATAC	0.458													T	140789013	C	T	140789013	3	4	11	1	0	0	0	0	1	0	0	0	11567	478	17	4	1246	4	PCDHGB6	5	140789013	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	35115	140789013	40126247	368	9207											
PCDHGB7	56099	broad.mit.edu	37	chr5	140799786	140799786	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcaacaaagatagcatgcTactggctagcattttaactc	6	11	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:140799786T>C	uc003lkn.1	+	1	2505	c.2360T>C	c.(2359-2361)CTA>CCA	p.L787P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.L787P|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	787	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAGCATGCTACTGGCTAGC	0.333													C	140799786	T	C	140799786	3	2	11	1	0	0	0	0	1	0	0	0	11568	1522	53	3	2362	3	PCDHGB7	5	140799786	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	10773	140799786	40115474	369	9208											
DIAPH1	1729	broad.mit.edu	37	chr5	140955848	140955848	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatttctccacctttgtcttAtcaatcatttgatctgaaaa	4	9	5	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:140955848A>G	uc003llb.3	-	14	1551	c.1410T>C	c.(1408-1410)GAT>GAC	p.D470D	DIAPH1_uc003llc.3_Silent_p.D461D|DIAPH1_uc010jgc.1_5'Flank	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	470	Potential.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTTGTCTTATCAATCATTT	0.373													G	140955848	A	G	140955848	2	3	11	1	0	0	0	0	0	0	0	1	4518	446	16	3		3	DIAPH1	5	140955848	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	156062	140955848	39959412	370	9209											
KCTD16	57528	broad.mit.edu	37	chr5	143586874	143586874	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggtttgtggaaggatttcCttggcaaaagaagtctttgg	13	4	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:143586874C>A	uc003lnm.1	+	3	1226	c.597C>A	c.(595-597)TCC>TCA	p.S199S	KCTD16_uc003lnn.1_Silent_p.S199S	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	potassium channel tetramerisation domain	199						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(2)|ovary(1)|skin(1)	4		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GAAGGATTTCCTTGGCAAAAG	0.473													A	143586874	C	A	143586874	2	1	11	1	0	0	0	0	0	0	0	1	8103	668	24	5		5	KCTD16	5	143586874	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2631026	143586874	37328386	371	9210											
PLAC8L1	153770	broad.mit.edu	37	chr5	145483816	145483816	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgacaacagaggtgagtatAtgttgagtaaggaaagatcc	13	4	0	5			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:145483816A>G	uc003lnv.2	-	1	131	c.59T>C	c.(58-60)ATA>ACA	p.I20T	PLAC8L1_uc011dbp.1_RNA	NM_001029869	NP_001025040	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	20											0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTGAGTATATGTTGAGTAA	0.403													G	145483816	A	G	145483816	3	3	11	1	0	0	0	0	1	0	0	0	12016	449	16	3	490	3	PLAC8L1	5	145483816	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	1896942	145483816	35431444	372	9211											
SPINK5	11005	broad.mit.edu	37	chr5	147473990	147473990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggagagtgatccagtccGtggccctgacggcaggatgc	16	11	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:147473990G>A	uc003lox.2	+	9	813	c.740G>A	c.(739-741)CGT>CAT	p.R247H	SPINK5_uc010jgq.1_RNA|SPINK5_uc010jgs.1_Missense_Mutation_p.R219H|SPINK5_uc010jgr.2_Missense_Mutation_p.R228H|SPINK5_uc003low.2_Missense_Mutation_p.R247H|SPINK5_uc003loy.2_Missense_Mutation_p.R247H	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	247	Kazal-like 4.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCCAGTCCGTGGCCCTGAC	0.403													A	147473990	G	A	147473990	3	1	11	1	0	0	0	0	1	0	0	0	15061	1145	40	1	774	1	SPINK5	5	147473990	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1990174	147473990	33441270	373	9212											
SPINK5	11005	broad.mit.edu	37	chr5	147478860	147478860	+	Frame_Shift_Del	DEL	A	A	-													agaaacaaaagagaatctggAaaagcaacctcatatgcagt							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:147478859_147478859GA>G	uc003lox.2	+	11	1146	c.1073_1073GA>G	c.(1072-1074)ggafs	p.G358fs	SPINK5_uc010jgs.1_Frame_Shift_Del_p.G330fs|SPINK5_uc010jgr.2_Frame_Shift_Del_p.G339fs|SPINK5_uc003low.2_Frame_Shift_Del_p.G358fs|SPINK5_uc003loy.2_Frame_Shift_Del_p.G358fs	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	358					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGAATCTGGAAAAGCAACC	0.378													-	147478860	A	-	147478860	7	5	11	1	0	1	0	1	0	0	0	0	15061	233	9	0	1120	0	SPINK5	5	147478860	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	4870	147478860	33436400	374	9213											
SPINK14	408187	broad.mit.edu	37	chr5	147554938	147554938	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatctcatggaagaatcaggTtttaccatgatggaaaatgt	9	5	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:147554938T>C	uc003loz.1	+	4	271	c.271T>C	c.(271-273)TTT>CTT	p.F91L		NM_001001325	NP_001001325	Q6IE38	ISK14_HUMAN	Kazal type serine protease inhibitor 5-like 2	91	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity				0						AAGAATCAGGTTTTACCATGA	0.269													C	147554938	T	C	147554938	3	2	11	1	0	0	0	0	1	0	0	0	15058	1725	60	3	285	3	SPINK14	5	147554938	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	76078	147554938	33360322	375	9214											
HTR4	3360	broad.mit.edu	37	chr5	147928374	147928374	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaagggcatcaccagcacCgaaaccagcagatccgcaaa	8	15	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:147928374C>T	uc003lpn.2	-	4	374	c.210G>A	c.(208-210)TCG>TCA	p.S70S	HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Silent_p.S70S|HTR4_uc003lpj.1_Silent_p.S70S|HTR4_uc003lpk.2_Silent_p.S70S|HTR4_uc011dby.1_Silent_p.S70S|HTR4_uc003lpl.2_Silent_p.S70S|HTR4_uc003lpm.2_Silent_p.S70S|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Silent_p.S70S	NM_000870	NP_000861	Q13639	5HT4R_HUMAN	serotonin 5-HT4 receptor isoform b	70	Helical; Name=2; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	TCACCAGCACCGAAACCAGCA	0.383													T	147928374	C	T	147928374	2	4	11	1	0	0	0	0	0	0	0	1	7449	639	23	1		1	HTR4	5	147928374	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	373436	147928374	32986886	376	9215											
SH3TC2	79628	broad.mit.edu	37	chr5	148392271	148392271	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatacgcaggctctccttgAtgcatgtgagtgacctcctg	11	11	1	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:148392271A>G	uc003lpu.2	-	13	3232	c.3080T>C	c.(3079-3081)ATC>ACC	p.I1027T	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.I671T|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.I574T|SH3TC2_uc010jgx.2_Missense_Mutation_p.I1020T	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1027	TPR 4.						binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCTCCTTGATGCATGTGAG	0.577													G	148392271	A	G	148392271	3	3	11	1	0	0	0	0	1	0	0	0	14262	333	12	3	806	3	SH3TC2	5	148392271	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	463897	148392271	32522989	377	9216											
SH3TC2	79628	broad.mit.edu	37	chr5	148406142	148406142	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccctgactcacctggcggTatttaggttccgataaagct	10	11	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:148406142T>C	uc003lpu.2	-	12	3198	c.3046A>G	c.(3046-3048)ACC>GCC	p.T1016A	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.T660A|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.T563A|SH3TC2_uc010jgx.2_Missense_Mutation_p.T1009A|SH3TC2_uc003lpv.1_3'UTR|SH3TC2_uc011dbz.1_3'UTR	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1016	TPR 4.						binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTGGCGGTATTTAGGTTC	0.542													C	148406142	T	C	148406142	3	2	11	1	0	0	0	0	1	0	0	0	14262	1638	57	3	844	3	SH3TC2	5	148406142	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	13871	148406142	32509118	378	9217											
SH3TC2	79628	broad.mit.edu	37	chr5	148407408	148407408	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccctggcctccagcggGctgctgcccaccacaatccc	10	20	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:148407408G>A	uc003lpu.2	-	11	2039	c.1887C>T	c.(1885-1887)AGC>AGT	p.S629S	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Silent_p.S273S|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Silent_p.S176S|SH3TC2_uc010jgx.2_Silent_p.S622S|SH3TC2_uc003lpv.1_Silent_p.S176S|SH3TC2_uc011dbz.1_Silent_p.S514S	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	629							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCAGCGGGCTGCTGCCCA	0.672													A	148407408	G	A	148407408	2	1	11	1	0	0	0	0	0	0	0	1	14262	1194	42	2		2	SH3TC2	5	148407408	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1266	148407408	32507852	379	9218											
SLC26A2	1836	broad.mit.edu	37	chr5	149357647	149357647	+	Frame_Shift_Del	DEL	T	T	-													gtctatggtctgtacacatcTttttttgccagcatcattta							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:149357646_149357646CT>C	uc003lrh.3	+	1	699	c.431_431CT>C	c.(430-432)tctfs	p.S144fs		NM_000112	NP_000103	P50443	S26A2_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.	144						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTGTACACATCTTTTTTTGCC	0.463													-	149357647	T	-	149357647	7	5	11	1	0	1	0	1	0	0	0	0	14517	1596	56	0	434	0	SLC26A2	5	149357647	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	950239	149357647	31557613	380	9219											
FAT2	2196	broad.mit.edu	37	chr5	150924599	150924599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgagtgtcctgctgctccCggtcaaacgccacacctctt	8	16	2	1	rs145039507		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:150924599C>T	uc003lue.3	-	9	6102	c.6089G>A	c.(6088-6090)CGG>CAG	p.R2030Q	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	2030	Extracellular (Potential).|Cadherin 17.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCTGCTCCCGGTCAAACGC	0.512													T	150924599	C	T	150924599	3	4	11	1	0	0	0	0	1	0	0	0	5690	652	23	1	7020	1	FAT2	5	150924599	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1566952	150924599	29990661	381	9220											
FAT2	2196	broad.mit.edu	37	chr5	150930358	150930358	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggcacggtgtcctggggAactctgacttcataacgagt	12	11	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:150930358A>G	uc003lue.3	-	7	4384	c.4371T>C	c.(4369-4371)GTT>GTC	p.V1457V	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1457	Extracellular (Potential).|Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTCCTGGGGAACTCTGACTT	0.527													G	150930358	A	G	150930358	2	3	11	1	0	0	0	0	0	0	0	1	5690	233	9	3		3	FAT2	5	150930358	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	5759	150930358	29984902	382	9221											
NMUR2	56923	broad.mit.edu	37	chr5	151784474	151784474	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgctgcagaatcaccagGcacaccaggacattgccaat	10	12	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:151784474G>A	uc003luv.2	-	1	367	c.201C>T	c.(199-201)TGC>TGT	p.C67C		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	67	Helical; Name=1; (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GAATCACCAGGCACACCAGGA	0.587													A	151784474	G	A	151784474	2	1	11	1	0	0	0	0	0	0	0	1	10507	1195	42	2		2	NMUR2	5	151784474	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	854116	151784474	29130786	383	9222											
RNF145	153830	broad.mit.edu	37	chr5	158621757	158621757	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccagcatagaggagcagaGcagtcaaaaaatatagataa	10	6	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:158621757G>T	uc003lxp.2	-	3	573	c.260C>A	c.(259-261)GCT>GAT	p.A87D	RNF145_uc011ddy.1_Missense_Mutation_p.A101D|RNF145_uc003lxo.1_Missense_Mutation_p.A115D|RNF145_uc011ddz.1_Missense_Mutation_p.A104D|RNF145_uc010jiq.1_Missense_Mutation_p.A117D|RNF145_uc011dea.1_Missense_Mutation_p.A103D	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	87	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGGAGCAGAGCAGTCAAAAA	0.343													T	158621757	G	T	158621757	3	4	11	1	0	0	0	0	1	0	0	0	13447	971	34	5	1767	5	RNF145	5	158621757	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	6837283	158621757	22293503	384	9223											
CCNJL	79616	broad.mit.edu	37	chr5	159738871	159738871	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggagggactgaccttctcGcgcagggtgcagtggacgtc	17	10	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:159738871G>A	uc003lyb.1	-	2	312	c.60C>T	c.(58-60)CGC>CGT	p.R20R	CCNJL_uc011dee.1_Silent_p.R20R|CCNJL_uc003lyc.1_Intron|CCNJL_uc011def.1_Silent_p.R20R	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	cyclin J-like	20	Cyclin N-terminal.					nucleus					0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGACCTTCTCGCGCAGGGTGC	0.637													A	159738871	G	A	159738871	2	1	11	1	0	0	0	0	0	0	0	1	2929	1074	38	1		1	CCNJL	5	159738871	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1117114	159738871	21176389	385	9224											
MAT2B	27430	broad.mit.edu	37	chr5	162943622	162943622	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaagtgcagttcagcaacAagtcagcaaacatggatcac	8	9	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:162943622A>G	uc003lzk.2	+	5	733	c.625A>G	c.(625-627)AAG>GAG	p.K209E	MAT2B_uc003lzj.2_Missense_Mutation_p.K198E|MAT2B_uc003lzl.1_Missense_Mutation_p.K209E|MAT2B_uc003lzm.2_5'Flank	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta isoform	209					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding			upper_aerodigestive_tract(1)	1	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GTTCAGCAACAAGTCAGCAAA	0.473													G	162943622	A	G	162943622	3	3	11	1	0	0	0	0	1	0	0	0	9331	131	5	3	677	3	MAT2B	5	162943622	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	3204751	162943622	17971638	386	9225											
WWC1	23286	broad.mit.edu	37	chr5	167895969	167895969	+	Frame_Shift_Del	DEL	T	T	-													cttatagggagaagatggcaTttttcacccggcctcggatg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:167895968_167895968AT>A	uc003lzu.3	+	22	3381	c.3288_3288AT>A	c.(3286-3288)gcafs	p.A1096fs	WWC1_uc003lzv.3_Frame_Shift_Del_p.A1101fs|WWC1_uc011den.2_Frame_Shift_Del_p.A1102fs|WWC1_uc003lzw.3_Frame_Shift_Del_p.A894fs	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	1096	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGAAGATGGCATTTTTCACCC	0.488													-	167895969	T	-	167895969	7	5	11	1	0	1	0	1	0	0	0	0	17408	1493	52	0	3397	0	WWC1	5	167895969	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	4952347	167895969	13019291	387	9226											
MSX2	4488	broad.mit.edu	37	chr5	174156184	174156184	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catatgagccctaccacctgCaccctgaggaaacacaagac	7	15	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:174156184C>T	uc003mcy.2	+	2	490	c.402C>T	c.(400-402)TGC>TGT	p.C134C		NM_002449	NP_002440	P35548	MSX2_HUMAN	msh homeobox 2	134					cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTACCACCTGCACCCTGAGGA	0.498													T	174156184	C	T	174156184	2	4	11	1	0	0	0	0	0	0	0	1	9896	718	25	2		2	MSX2	5	174156184	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	6260215	174156184	6759076	388	9227											
DDX41	51428	broad.mit.edu	37	chr5	176942974	176942974	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaatgcccttagccatctcCttcactgacatcaatgctga	6	13	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:176942974C>A	uc003mho.2	-	5	411	c.390G>T	c.(388-390)AAG>AAT	p.K130N	DDX41_uc003mhm.2_5'Flank|DDX41_uc003mhn.2_Translation_Start_Site|DDX41_uc003mhp.2_Translation_Start_Site|DDX41_uc003mhq.1_Translation_Start_Site	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	130					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TAGCCATCTCCTTCACTGACA	0.512													A	176942974	C	A	176942974	3	1	11	1	0	0	0	0	1	0	0	0	4361	680	24	5	1530	5	DDX41	5	176942974	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2786790	176942974	3972286	389	9228											
ZNF454	285676	broad.mit.edu	37	chr5	178392951	178392951	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaacctcattcagcatcagAgacatcatattggagagaag	8	9	4	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:178392951A>G	uc003mjo.1	+	5	1817	c.1546A>G	c.(1546-1548)AGA>GGA	p.R516G	ZNF454_uc010jkz.1_Missense_Mutation_p.R516G	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	516	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TCAGCATCAGAGACATCATAT	0.383													G	178392951	A	G	178392951	3	3	11	1	0	0	0	0	1	0	0	0	17920	296	11	3	1560	3	ZNF454	5	178392951	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	1449977	178392951	2522309	390	9229											
C5orf45	51149	broad.mit.edu	37	chr5	179271187	179271187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagcctgctggtgtcccaCgttttcttcttcactggcac	8	16	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:179271187C>T	uc003mla.2	-	4	300	c.256G>A	c.(256-258)GTG>ATG	p.V86M	C5orf45_uc003mky.2_Missense_Mutation_p.V83M|C5orf45_uc011dgt.1_Missense_Mutation_p.V86M|C5orf45_uc011dgu.1_Intron|C5orf45_uc003mlc.2_Intron|C5orf45_uc003mlb.2_Translation_Start_Site	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN	hypothetical protein LOC51149 isoform 1	86											0						TGGTGTCCCACGTTTTCTTCT	0.483													T	179271187	C	T	179271187	3	4	11	1	0	0	0	0	1	0	0	0	2304	536	19	1	791	1	C5orf45	5	179271187	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	878236	179271187	1644073	391	9230											
TBC1D9B	23061	broad.mit.edu	37	chr5	179290918	179290918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgaagctccctggctgCgtcctgatgcagttcgggtg	16	11	0	2	rs113335971	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:179290918C>T	uc003mlh.2	-	22	3320	c.3283G>A	c.(3283-3285)GCA>ACA	p.A1095T	TBC1D9B_uc003mli.2_Missense_Mutation_p.A1078T|TBC1D9B_uc003mlj.2_Missense_Mutation_p.A1077T|TBC1D9B_uc003mlf.2_Missense_Mutation_p.A169T|TBC1D9B_uc003mlg.2_Missense_Mutation_p.A254T|TBC1D9B_uc011dgv.1_Missense_Mutation_p.A254T	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1095						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCTGGCTGCGTCCTGATGC	0.647													T	179290918	C	T	179290918	3	4	11	1	0	0	0	0	1	0	0	0	15625	768	27	1	473	1	TBC1D9B	5	179290918	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	19731	179290918	1624342	392	9231											
RREB1	6239	broad.mit.edu	37	chr6	7226757	7226757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactgctgcgtcacaacgcGcttgtccacaaacaacttcc	8	15	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:7226757G>A	uc003mxc.2	+	9	1155	c.765G>A	c.(763-765)GCG>GCA	p.A255A	RREB1_uc003mxb.2_Silent_p.A255A|RREB1_uc010jnx.2_Silent_p.A255A	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	255	C2H2-type 5.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GTCACAACGCGCTTGTCCACA	0.498													A	7226757	G	A	7226757	2	1	11	1	0	0	0	0	0	0	0	1	13679	1074	38	1		1	RREB1	6	7226757	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08		7226757	163888310	393	9232											
GCM2	9247	broad.mit.edu	37	chr6	10876680	10876681	+	Frame_Shift_Ins	INS	-	-	A													gttctcacctgacctacctgINSaaaaaagatcgcgttgccat							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:10876680_10876681insA	uc003mzn.3	-	3	525_526	c.453_454insT	c.(451-456)TTTCAGfs	p.F151fs	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	glial cells missing homolog 2	151_152	GCM.				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGACCTACCTGAAAAAAGATCG	0.5													A	10876681	-	A	10876680	7	5	11	1	0	1	1	0	0	0	0	0	6298	1299	45	0	1078	0	GCM2	6	10876680	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	3649923	10876680	160238387	394	9233	18	2									
GCM2	9247	broad.mit.edu	37	chr6	10876681	10876682	+	Frame_Shift_Ins	INS	-	-	A													ttctcacctgacctacctgaINSaaaaagatcgcgttgccatc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:10876680_10876681G>GA	uc003mzn.4	-	2	525_526	c.453_454C>TC	c.(451-456)tttcagfs	p.F151fs	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	151					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGACCTACCTGAAAAAAGATCG	0.5													A	10876682	-	A	10876681	7	5	11	1	0	1	1	0	0	0	0	0	6298	243	9	0	1079	0	GCM2	6	10876681	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	1	10876681	160238386	395	9234	18	2									
RNF182	221687	broad.mit.edu	37	chr6	13977897	13977897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtttcagacatccatcCgggtgttagtgtggttgcta	12	8	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:13977897C>T	uc003nbe.2	+	3	965	c.547C>T	c.(547-549)CGG>TGG	p.R183W	RNF182_uc003nbf.2_Missense_Mutation_p.R183W|RNF182_uc003nbg.2_Missense_Mutation_p.R183W	NM_152737	NP_689950	Q8N6D2	RN182_HUMAN	ring finger protein 182	183						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GACATCCATCCGGGTGTTAGT	0.488													T	13977897	C	T	13977897	3	4	11	1	0	0	0	0	1	0	0	0	13466	643	23	1	549	1	RNF182	6	13977897	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3101216	13977897	157137170	396	9235											
ATXN1	6310	broad.mit.edu	37	chr6	16306697	16306697	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcgccgaccacctcctctTcctcgttgccgcgggcttgc	11	18	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:16306697T>C	uc003nbt.2	-	9	3282	c.2311A>G	c.(2311-2313)AAG>GAG	p.K771E	ATXN1_uc010jpi.2_Missense_Mutation_p.K771E|ATXN1_uc010jpj.1_RNA	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	771	Interaction with USP7.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CACCTCCTCTTCCTCGTTGCC	0.532													C	16306697	T	C	16306697	3	2	11	1	0	0	0	0	1	0	0	0	1209	1792	62	3	140	3	ATXN1	6	16306697	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	2328800	16306697	154808370	397	9236											
KIF13A	63971	broad.mit.edu	37	chr6	17788023	17788023	+	Frame_Shift_Del	DEL	T	T	-													atacctgttttattgctgacTttttttatctgttcatccag							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:17788022_17788022CT>C	uc003ncg.4	-	26	3506	c.3346_3346AG>G	c.(3346-3348)gtcfs	p.V1116fs	KIF13A_uc003ncf.3_Frame_Shift_Del_p.V1103fs|KIF13A_uc003nch.4_Frame_Shift_Del_p.V1116fs|KIF13A_uc003nci.4_Frame_Shift_Del_p.V1103fs	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1116					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTATTGCTGACTTTTTTTATC	0.418													-	17788023	T	-	17788023	7	5	11	1	0	1	0	1	0	0	0	0	8274	1606	56	0	2149	0	KIF13A	6	17788023	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	1481326	17788023	153327044	398	9237											
KIF13A	63971	broad.mit.edu	37	chr6	17826310	17826310	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataggattcggtcaccatgCcacagctgggtggtactgca	12	11	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:17826310C>T	uc003ncg.3	-	15	1683	c.1578G>A	c.(1576-1578)TGG>TGA	p.W526*	KIF13A_uc003ncf.2_Nonsense_Mutation_p.W526*|KIF13A_uc003nch.3_Nonsense_Mutation_p.W526*|KIF13A_uc003nci.3_Nonsense_Mutation_p.W526*|KIF13A_uc003ncj.2_Nonsense_Mutation_p.W202*	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	526					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGTCACCATGCCACAGCTGGG	0.418													T	17826310	C	T	17826310	4	4	11	1	0	0	0	0	0	1	0	0	8274	740	26	2	3964	2	KIF13A	6	17826310	Nonsense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	38287	17826310	153288757	399	9238											
NHLRC1	378884	broad.mit.edu	37	chr6	18122083	18122083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcaacctttcagttctcCgaaggaccccttccgcgaag	8	15	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:18122083C>T	uc003ncl.1	-	1	769	c.755G>A	c.(754-756)CGG>CAG	p.R252Q		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	252	NHL 4.				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			TTCAGTTCTCCGAAGGACCCC	0.627													T	18122083	C	T	18122083	3	4	11	1	0	0	0	0	1	0	0	0	10405	652	23	1	436	1	NHLRC1	6	18122083	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	295773	18122083	152992984	400	9239											
GPLD1	2822	broad.mit.edu	37	chr6	24460553	24460553	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acactcctctttcagtatagTttatattcctgtcaacactt	3	11	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:24460553T>C	uc003ned.1	-	12	1073	c.962A>G	c.(961-963)AAC>AGC	p.N321S	GPLD1_uc010jpr.1_Missense_Mutation_p.N158S|GPLD1_uc010jps.1_Missense_Mutation_p.N321S	NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	321						extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						TTCAGTATAGTTTATATTCCT	0.363													C	24460553	T	C	24460553	3	2	11	1	0	0	0	0	1	0	0	0	6614	1725	60	3	1616	3	GPLD1	6	24460553	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	6338470	24460553	146654514	401	9240											
SLC17A1	6568	broad.mit.edu	37	chr6	25830753	25830754	+	Splice_Site	INS	-	-	T													aacagaataaagtgctacctINStttttgggaggcaaccggtt							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:25830752_25830753C>CT	uc003nfh.4	-	2	150	c.34_splice	c.e2+1	p.V12_splice	SLC17A1_uc011djy.2_Splice_Site|SLC17A1_uc010jqb.1_Splice_Site_p.V12_splice|SLC17A1_uc010jqc.1_Splice_Site_p.V10_splice	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	12					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.K11K(1)|p.V12L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AAAGTGCTACCTTTTTTGGGAG	0.401													T	25830754	-	T	25830753	8	5	11	1	0	1	1	0	0	0	1	0	14416	1623	56	0	1414	0	SLC17A1	6	25830753	Splice_Site	INS	-	TCGA-BR-4256-01A-01D-1126-08	1370200	25830753	145284314	402	9241											
SLC17A2	10246	broad.mit.edu	37	chr6	25914895	25914895	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attcccatgaggaaacttgcAtatctgtgggaagatgattt	10	6	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:25914895A>T	uc011dkb.1	-	10	1298	c.1215T>A	c.(1213-1215)TAT>TAA	p.Y405*	SLC17A2_uc011dkc.1_Missense_Mutation_p.M356K|SLC17A2_uc003nfl.2_Missense_Mutation_p.M356K			O00624	NPT3_HUMAN	SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;	405					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			ovary(1)	1						GGAAACTTGCATATCTGTGGG	0.428													T	25914895	A	T	25914895	4	4	11	1	0	0	0	0	0	1	0	0	14417	217	8	5	251	5	SLC17A2	6	25914895	Nonsense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	84142	25914895	145200172	403	9242											
ZNF165	7718	broad.mit.edu	37	chr6	28053645	28053645	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atactagaagatttggagagAggcactgatgaagcagtact	12	5	0	5			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:28053645A>C	uc003nkg.2	+	3	1471	c.387A>C	c.(385-387)AGA>AGC	p.R129S	ZNF165_uc003nkh.2_Missense_Mutation_p.R129S|ZNF165_uc003nki.3_Missense_Mutation_p.R129S	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	129					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ATTTGGAGAGAGGCACTGATG	0.522													C	28053645	A	C	28053645	3	2	11	1	0	0	0	0	1	0	0	0	17737	301	11	5	389	5	ZNF165	6	28053645	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	2138750	28053645	143061422	404	9243											
GABBR1	2550	broad.mit.edu	37	chr6	29589896	29589896	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaccttcaggtttttgacGggcacagctggatctgagaa	12	9	2	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:29589896G>A	uc003nmt.3	-	9	1386	c.1050C>T	c.(1048-1050)CCC>CCT	p.P350P	GABBR1_uc003nmp.3_Silent_p.P233P|GABBR1_uc003nms.3_Silent_p.P233P|GABBR1_uc003nmu.3_Silent_p.P288P|GABBR1_uc011dlr.1_Silent_p.P173P|GABBR1_uc011dls.1_Silent_p.P350P	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	350	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.P350L(1)		ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	GGTTTTTGACGGGCACAGCTG	0.557													A	29589896	G	A	29589896	2	1	11	1	0	0	0	0	0	0	0	1	6155	1103	39	1		1	GABBR1	6	29589896	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1536251	29589896	141525171	405	9244											
BAT2	7916	broad.mit.edu	37	chr6	31602535	31602535	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccactcctctcagatgagTcagtctgacagtggggtgga	12	11	3	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:31602535T>C	uc003nvb.3	+	21	5190	c.4941T>C	c.(4939-4941)AGT>AGC	p.S1647S	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Silent_p.S1647S	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1647	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						CTCAGATGAGTCAGTCTGACA	0.552													C	31602535	T	C	31602535	2	2	11	1	0	0	0	0	0	0	0	1	1319	1664	58	3		3	BAT2	6	31602535	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	2012639	31602535	139512532	406	9245											
CLIC1	1192	broad.mit.edu	37	chr6	31701700	31701700	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catacagcaggaatgggagcTgcccccctgggcacagcttc	12	14	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:31701700T>C	uc003nwr.2	-	3	452	c.188A>G	c.(187-189)CAG>CGG	p.Q63R	CLIC1_uc003rje.2_Missense_Mutation_p.Q63R	NM_001288	NP_001279	O00299	CLIC1_HUMAN	chloride intracellular channel 1	63	Required for insertion into the membrane.			Q -> E (in Ref. 1; AAC25675 and 3; AAD26137).	signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			ovary(1)|central_nervous_system(1)	2						GAATGGGAGCTGCCCCCCTGG	0.562													C	31701700	T	C	31701700	3	2	11	1	0	0	0	0	1	0	0	0	3525	1580	55	3	553	3	CLIC1	6	31701700	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	99165	31701700	139413367	407	9246											
HLA-DMA	3108	broad.mit.edu	37	chr6	32917066	32917066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacctgagcaaggcttccGgaagtagatgatgagaacaa	11	9	0	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:32917066G>A	uc003ocm.2	-	4	849	c.763C>T	c.(763-765)CGG>TGG	p.R255W		NM_006120	NP_006111	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM	255						integral to membrane|MHC class II protein complex					0						CAAGGCTTCCGGAAGTAGATG	0.567													A	32917066	G	A	32917066	3	1	11	1	0	0	0	0	1	0	0	0	7198	1115	39	1	30	1	HLA-DMA	6	32917066	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1215366	32917066	138198001	408	9247											
HLA-DOA	3111	broad.mit.edu	37	chr6	32977255	32977255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggcccctgcctcctgcGggctcaggagggtcatcagg	16	13	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:32977255G>A	uc003ocr.2	-	1	135	c.59C>T	c.(58-60)CCG>CTG	p.P20L	HLA-DOA_uc010juj.2_5'UTR|HLA-DOA_uc010jui.2_Missense_Mutation_p.P20L	NM_002119	NP_002110	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO	20					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0						TGCCTCCTGCGGGCTCAGGAG	0.612													A	32977255	G	A	32977255	3	1	11	1	0	0	0	0	1	0	0	0	7200	1116	39	1	713	1	HLA-DOA	6	32977255	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	60189	32977255	138137812	409	9248											
HLA-DPB1	3115	broad.mit.edu	37	chr6	33048483	33048483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggacggcaggaatgctaCgcgtttaatgggacacagcg	15	9	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:33048483C>T	uc003ocu.1	+	2	194	c.135C>T	c.(133-135)TAC>TAT	p.Y45Y	HLA-DPA1_uc003oct.1_5'UTR|HLA-DPB1_uc011dqn.1_RNA|HLA-DPB1_uc011dqo.1_RNA|HLA-DPB1_uc011dqp.1_Silent_p.Y44Y|HLA-DPB1_uc011dqq.1_Translation_Start_Site	NM_002121	NP_002112	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP	45	Extracellular (Potential).|Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex				ovary(1)	1						AGGAATGCTACGCGTTTAATG	0.597													T	33048483	C	T	33048483	2	4	11	1	0	0	0	0	0	0	0	1	7203	547	19	1		1	HLA-DPB1	6	33048483	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	71228	33048483	138066584	410	9249											
FKBP5	2289	broad.mit.edu	37	chr6	35547992	35547992	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcaccgcctgcatgtattTgcctccctaggataaaaaag	7	11	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:35547992T>C	uc011dte.1	-	9	1050	c.847A>G	c.(847-849)AAA>GAA	p.K283E	FKBP5_uc003okx.2_Missense_Mutation_p.K283E|FKBP5_uc011dtf.1_Missense_Mutation_p.K104E|FKBP5_uc003oky.2_Missense_Mutation_p.K283E	NM_001145776	NP_001139248	Q13451	FKBP5_HUMAN	FK506 binding protein 5 isoform 1	283	TPR 1.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1						TGCATGTATTTGCCTCCCTAG	0.423													C	35547992	T	C	35547992	3	2	11	1	0	0	0	0	1	0	0	0	5911	1821	63	3	538	3	FKBP5	6	35547992	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	2499509	35547992	135567075	411	9250											
LHFPL5	222662	broad.mit.edu	37	chr6	35773711	35773711	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccccctagacttctcctcCatcccctctagagccttcaa	5	19	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:35773711C>A	uc003olg.1	+	1	641	c.264C>A	c.(262-264)TCC>TCA	p.S88S		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	88						integral to membrane				skin(1)	1						ACTTCTCCTCCATCCCCTCTA	0.557													A	35773711	C	A	35773711	2	1	11	1	0	0	0	0	0	0	0	1	8768	581	21	5		5	LHFPL5	6	35773711	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	225719	35773711	135341356	412	9251											
SLC26A8	116369	broad.mit.edu	37	chr6	35960350	35960350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagatgaaagtcagctgGgacagcatgatatgaagtgc	12	7	1	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:35960350G>A	uc003olm.2	-	6	840	c.729C>T	c.(727-729)TCC>TCT	p.S243S	SLC26A8_uc003oln.2_Silent_p.S243S|SLC26A8_uc003oll.2_Intron	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	243	Helical; (Potential).				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			ovary(2)	2						AAGTCAGCTGGGACAGCATGA	0.453													A	35960350	G	A	35960350	2	1	11	1	0	0	0	0	0	0	0	1	14523	1219	43	4		4	SLC26A8	6	35960350	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	186639	35960350	135154717	413	9252											
BRPF3	27154	broad.mit.edu	37	chr6	36168494	36168494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccagccagaagcaccccCgctgcctgctgcctactacc	7	20	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:36168494C>T	uc003olv.3	+	2	619	c.395C>T	c.(394-396)CCG>CTG	p.P132L	BRPF3_uc010jwb.2_Missense_Mutation_p.P132L|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Missense_Mutation_p.P132L	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	132					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GAAGCACCCCCGCTGCCTGCT	0.567													T	36168494	C	T	36168494	3	4	11	1	0	0	0	0	1	0	0	0	1521	652	23	1	397	1	BRPF3	6	36168494	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	208144	36168494	134946573	414	9253											
DNAH8	1769	broad.mit.edu	37	chr6	38781845	38781845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcctttatgggcgaaaGcagtcagaagatattatttc	10	7	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:38781845G>A	uc003ooe.1	+	23	3222	c.2622G>A	c.(2620-2622)AAG>AAA	p.K874K		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						ATGGGCGAAAGCAGTCAGAAG	0.323													A	38781845	G	A	38781845	2	1	11	1	0	0	0	0	0	0	0	1	4607	962	34	2		2	DNAH8	6	38781845	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2613351	38781845	132333222	415	9254											
TCTE1	202500	broad.mit.edu	37	chr6	44250020	44250020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcctggccaccctcatcctCgatgcagttgagacgtaggt	11	13	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:44250020C>T	uc003oxi.2	-	4	1279	c.1123G>A	c.(1123-1125)GAG>AAG	p.E375K	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	t-complex-associated testis expressed 1	375	LRR 3.									ovary(2)|skin(2)	4	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCTCATCCTCGATGCAGTTG	0.612													T	44250020	C	T	44250020	3	4	11	1	0	0	0	0	1	0	0	0	15714	893	31	1	390	1	TCTE1	6	44250020	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	5468175	44250020	126865047	416	9255											
RUNX2	860	broad.mit.edu	37	chr6	45405710	45405710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcaccttgaccataaccGtcttcacaaatcctccccaa	3	16	3	1	rs147009083		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:45405710G>A	uc011dvx.1	+	5	817	c.607G>A	c.(607-609)GTC>ATC	p.V203I	RUNX2_uc011dvy.1_Missense_Mutation_p.V203I|RUNX2_uc003oxt.2_Missense_Mutation_p.V189I	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	runt-related transcription factor 2 isoform a	203	Runt.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3						GACCATAACCGTCTTCACAAA	0.393													A	45405710	G	A	45405710	3	1	11	1	0	0	0	0	1	0	0	0	13748	1145	40	1	637	1	RUNX2	6	45405710	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1155690	45405710	125709357	417	9256											
HCRTR2	3062	broad.mit.edu	37	chr6	55142277	55142277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacgaagtcccggatgagcGctgtggcggctgaaataaag	14	9	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:55142277G>A	uc003pcl.2	+	5	1177	c.862G>A	c.(862-864)GCT>ACT	p.A288T	HCRTR2_uc010jzv.2_RNA	NM_001526	NP_001517	O43614	OX2R_HUMAN	orexin receptor 2	288	Cytoplasmic (Potential).				feeding behavior	integral to plasma membrane	neuropeptide receptor activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCGGATGAGCGCTGTGGCGGC	0.502													A	55142277	G	A	55142277	3	1	11	1	0	0	0	0	1	0	0	0	7002	1087	38	1	880	1	HCRTR2	6	55142277	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	9736567	55142277	115972790	418	9257											
DST	667	broad.mit.edu	37	chr6	56496731	56496731	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcaaatcatctctttccaGgggagttcgaatctgtctaa	8	9	4	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:56496731G>T	uc003pdf.2	-	28	3842	c.3814C>A	c.(3814-3816)CTG>ATG	p.L1272M	DST_uc003pcz.3_Missense_Mutation_p.L1094M|DST_uc011dxj.1_Missense_Mutation_p.L1123M|DST_uc011dxk.1_Missense_Mutation_p.L1134M|DST_uc003pcy.3_Missense_Mutation_p.L768M|DST_uc003pdb.2_Missense_Mutation_p.L768M|DST_uc003pdc.3_Missense_Mutation_p.L768M|DST_uc003pdd.3_Missense_Mutation_p.L768M	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	1094					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)			TCTCTTTCCAGGGGAGTTCGA	0.383													T	56496731	G	T	56496731	3	4	11	1	0	0	0	0	1	0	0	0	4783	991	35	5	18133	5	DST	6	56496731	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1354454	56496731	114618336	419	9258											
COL9A1	1297	broad.mit.edu	37	chr6	70990716	70990716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcaacttaccggggggccCggggggcccttaggacctcg	15	13	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:70990716C>T	uc003pfg.3	-	9	1062	c.903G>A	c.(901-903)CCG>CCA	p.P301P	COL9A1_uc003pfe.3_5'Flank|COL9A1_uc003pff.3_Silent_p.P58P	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	301	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						CCGGGGGGCCCGGGGGGCCCT	0.572													T	70990716	C	T	70990716	2	4	11	1	0	0	0	0	0	0	0	1	3707	639	23	1		1	COL9A1	6	70990716	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	14493985	70990716	100124351	420	9259											
DDX43	55510	broad.mit.edu	37	chr6	74117732	74117732	+	Frame_Shift_Del	DEL	A	A	-													atgaacaaatagaagagcttAaaaaaggtgtagatatcata							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:74117731_74117731TA>T	uc003pgw.3	+	8	1430	c.1086_1086TA>T	c.(1084-1086)cttfs	p.L362fs	DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	362	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TAGAAGAGCTTAAAAAAGGTG	0.323													-	74117732	A	-	74117732	7	5	11	1	0	1	0	1	0	0	0	0	4363	363	13	0	1121	0	DDX43	6	74117732	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	3127016	74117732	96997335	421	9260											
COL12A1	1303	broad.mit.edu	37	chr6	75861629	75861629	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttgagtttctttgaaggTgcttcaacatcgtcttgtga	9	8	3	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:75861629T>C	uc003phs.2	-	20	4120	c.3954A>G	c.(3952-3954)GCA>GCG	p.A1318A	COL12A1_uc003pht.2_Silent_p.A154A	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1318	VWFA 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TCTTTGAAGGTGCTTCAACAT	0.473													C	75861629	T	C	75861629	2	2	11	1	0	0	0	0	0	0	0	1	3669	1683	59	3		3	COL12A1	6	75861629	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	1743897	75861629	95253438	422	9261											
COL12A1	1303	broad.mit.edu	37	chr6	75899338	75899338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcatccctttggtagtaCtgatttaagttaaattcagt	7	6	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:75899338C>T	uc003phs.2	-	6	754	c.588G>A	c.(586-588)CAG>CAA	p.Q196Q	COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_5'Flank	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	196	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TTTGGTAGTACTGATTTAAGT	0.358													T	75899338	C	T	75899338	2	4	11	1	0	0	0	0	0	0	0	1	3669	564	20	4		4	COL12A1	6	75899338	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	37709	75899338	95215729	423	9262											
TTK	7272	broad.mit.edu	37	chr6	80718203	80718203	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttttgcacaatttgaactgTcacaaggtaatctgaaaatg	7	7	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:80718203T>A	uc003pjc.2	+	4	537	c.463T>A	c.(463-465)TCA>ACA	p.S155T	TTK_uc003pjb.3_Missense_Mutation_p.S155T	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	155					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		ATTTGAACTGTCACAAGGTAA	0.299													A	80718203	T	A	80718203	3	1	11	1	0	0	0	0	1	0	0	0	16717	1667	58	5	473	5	TTK	6	80718203	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	4818865	80718203	90396864	424	9263											
UBE2CBP	90025	broad.mit.edu	37	chr6	83667139	83667139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagggttagcgggtggacGctgatgtcactttcccacaa	14	10	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:83667139G>A	uc003pjp.2	-	9	1149	c.1041C>T	c.(1039-1041)AGC>AGT	p.S347S	UBE2CBP_uc011dyx.1_RNA	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN	ubiquitin-conjugating enzyme E2C binding	347						cytoplasm	ligase activity			ovary(1)	1		all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548)		BRCA - Breast invasive adenocarcinoma(397;0.0944)		GCGGGTGGACGCTGATGTCAC	0.423													A	83667139	G	A	83667139	2	1	11	1	0	0	0	0	0	0	0	1	16844	1078	38	1		1	UBE2CBP	6	83667139	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2948936	83667139	87447928	425	9264											
PGM3	5238	broad.mit.edu	37	chr6	83884176	83884176	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgttctgctgattgttttaTcttcatttcaacagctgtac	6	8	4	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:83884176T>C	uc003pjv.2	-	10	1199	c.1159A>G	c.(1159-1161)ATA>GTA	p.I387V	PGM3_uc003pjw.2_Missense_Mutation_p.I306V|PGM3_uc011dyz.1_Missense_Mutation_p.I415V	NM_015599	NP_056414	O95394	AGM1_HUMAN	phosphoglucomutase 3	387					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GATTGTTTTATCTTCATTTCA	0.348													C	83884176	T	C	83884176	3	2	11	1	0	0	0	0	1	0	0	0	11800	1435	50	3	485	3	PGM3	6	83884176	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	217037	83884176	87230891	426	9265											
ZNF292	23036	broad.mit.edu	37	chr6	87964590	87964590	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtataatcagccagacCagaaatatgatgaagagaat	9	5	1	5			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:87964590C>G	uc003plm.3	+	8	1284	c.1243C>G	c.(1243-1245)CAG>GAG	p.Q415E		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCAGCCAGACCAGAAATATGA	0.383													G	87964590	C	G	87964590	3	3	11	1	0	0	0	0	1	0	0	0	17823	595	21	5	1273	5	ZNF292	6	87964590	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	4080414	87964590	83150477	427	9266											
GABRR2	2570	broad.mit.edu	37	chr6	90024926	90024927	+	Missense_Mutation	DNP	CT	CT	GG													aaaagctgctttccagtagcCtgtggcagagcaaatccccc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:90024926_90024927CT>GG	uc003pnb.2	-	1	41_42	c.33_34AG>CC	c.(31-36)ACAGGC>ACCCGC	p.G12R		NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2	12					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TTCCAGTAGCCTGTGGCAGAGC	0.515													GG	90024927	CT	GG	90024926	3	3	11	1	0	0	0	0	1	0	0	0	6177	681	24	5	1474	5	GABRR2	6	90024926	Missense_Mutation	DNP	CT	TCGA-BR-4256-01A-01D-1126-08	2060336	90024926	81090141	428	9267											
MDN1	23195	broad.mit.edu	37	chr6	90494779	90494779	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtgaattttggtccaAtatttgtctagcaaagtagc	9	7	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:90494779A>T	uc003pnn.1	-	9	1517	c.1401T>A	c.(1399-1401)TAT>TAA	p.Y467*	MDN1_uc003pno.1_Translation_Start_Site|MDN1_uc003pnp.1_Nonsense_Mutation_p.Y467*	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	467					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTTGGTCCAATATTTGTCTA	0.443													T	90494779	A	T	90494779	4	4	11	1	0	0	0	0	0	1	0	0	9415	108	4	5	15765	5	MDN1	6	90494779	Nonsense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	469853	90494779	80620288	429	9268											
USP45	85015	broad.mit.edu	37	chr6	99958034	99958034	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtcttcatcatgaggtacAgtaggccttttacttctttt	8	8	4	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:99958034A>G	uc003ppx.2	-	2	596	c.63T>C	c.(61-63)ACT>ACC	p.T21T	USP45_uc003ppw.2_5'Flank|USP45_uc003ppy.2_RNA|USP45_uc010kcq.1_Silent_p.T21T|USP45_uc003ppz.2_Silent_p.T21T|USP45_uc003pqa.2_Silent_p.T21T	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	21					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|breast(1)	2		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CATGAGGTACAGTAGGCCTTT	0.343													G	99958034	A	G	99958034	2	3	11	1	0	0	0	0	0	0	0	1	17073	175	7	3		3	USP45	6	99958034	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	9463255	99958034	71157033	430	9269											
SIM1	6492	broad.mit.edu	37	chr6	100838636	100838636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatttttccctctctctgCtggatatggtcacatggtga	8	10	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:100838636C>T	uc003pqj.3	-	11	2109	c.1902G>A	c.(1900-1902)CAG>CAA	p.Q634Q	SIM1_uc010kcu.2_Silent_p.Q634Q	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	634	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCTCTCTCTGCTGGATATGGT	0.488													T	100838636	C	T	100838636	2	4	11	1	0	0	0	0	0	0	0	1	14323	796	28	2		2	SIM1	6	100838636	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	880602	100838636	70276431	431	9270											
ASCC3	10973	broad.mit.edu	37	chr6	101075830	101075830	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agataaaatttgttcgagatAcaatgacctctagaacaggg	9	6	1	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:101075830A>G	uc003pqk.2	-	28	4738	c.4409T>C	c.(4408-4410)GTA>GCA	p.V1470A		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1470	Helicase ATP-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGTTCGAGATACAATGACCTC	0.408													G	101075830	A	G	101075830	3	3	11	1	0	0	0	0	1	0	0	0	1033	391	14	3	2259	3	ASCC3	6	101075830	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	237194	101075830	70039237	432	9271											
SCML4	256380	broad.mit.edu	37	chr6	108066255	108066255	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcatcgcacaggaggcttcGgcacagcttggcgaggaagc	15	11	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:108066255G>T	uc010kdf.2	-	5	831	c.580C>A	c.(580-582)CGA>AGA	p.R194R	SCML4_uc003prz.3_Silent_p.R136R|SCML4_uc011eam.1_Silent_p.R194R|SCML4_uc003psa.3_Silent_p.R165R	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		AGGAGGCTTCGGCACAGCTTG	0.587													T	108066255	G	T	108066255	2	4	11	1	0	0	0	0	0	0	0	1	13911	1124	39	5		5	SCML4	6	108066255	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	6990425	108066255	63048812	433	9272											
REV3L	5980	broad.mit.edu	37	chr6	111710360	111710360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatttctgtttcttcgccGttgcttttcatcttcccata	4	12	5	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:111710360G>A	uc003puy.3	-	7	1134	c.811C>T	c.(811-813)CGG>TGG	p.R271W	REV3L_uc003pux.3_Missense_Mutation_p.R193W|REV3L_uc003puz.3_Missense_Mutation_p.R193W	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	271					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTCTTCGCCGTTGCTTTTCA	0.358								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	111710360	G	A	111710360	3	1	11	1	0	0	0	0	1	0	0	0	13240	1144	40	1	8685	1	REV3L	6	111710360	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3644105	111710360	59404707	434	9273											
DSE	29940	broad.mit.edu	37	chr6	116747852	116747852	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agacacaacaggagaagtttCttgaagtgattgccaatgcc	10	8	1	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:116747852C>A	uc003pws.2	+	3	726	c.532C>A	c.(532-534)CTT>ATT	p.L178I	DSE_uc011ebf.1_Missense_Mutation_p.L178I|DSE_uc011ebg.1_Missense_Mutation_p.L197I|DSE_uc003pwt.2_Missense_Mutation_p.L178I	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN	dermatan sulfate epimerase precursor	178					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			ovary(1)	1		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GGAGAAGTTTCTTGAAGTGAT	0.463													A	116747852	C	A	116747852	3	1	11	1	0	0	0	0	1	0	0	0	4774	913	32	5	538	5	DSE	6	116747852	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	5037492	116747852	54367215	435	9274											
KIAA0408	9729	broad.mit.edu	37	chr6	127767596	127767597	+	Frame_Shift_Ins	INS	-	-	C													tccttgcttcacttcctgtcINSccccccacacagctgtcttt							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:127767595_127767596T>TC	uc011ebs.2	-	4	2204_2205	c.1868_1869A>GA	c.(1867-1869)ggafs	p.G623fs	KIAA0408_uc003qbc.3_Frame_Shift_Ins_p.G623fs|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_Intron|KIAA0408_uc003qbb.3_Frame_Shift_Ins_p.G506fs	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401													C	127767597	-	C	127767596	7	5	11	1	0	1	1	0	0	0	0	0	8174	855	30	0	224	0	KIAA0408	6	127767596	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	11019744	127767596	43347471	436	9275											
STX7	8417	broad.mit.edu	37	chr6	132781989	132781989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtttttctggatttgcGctgcagacgcaaaaaacaaa	10	8	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:132781989G>A	uc003qdg.2	-	10	944	c.694C>T	c.(694-696)CGC>TGC	p.R232C	STX7_uc011ecg.1_RNA|STX7_uc011ech.1_Missense_Mutation_p.R57C	NM_003569	NP_003560	O15400	STX7_HUMAN	syntaxin 7	232	Cytoplasmic (Potential).				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity				0	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		CTGGATTTGCGCTGCAGACGC	0.353													A	132781989	G	A	132781989	3	1	11	1	0	0	0	0	1	0	0	0	15349	1101	38	1	95	1	STX7	6	132781989	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	5014393	132781989	38333078	437	9276											
IFNGR1	3459	broad.mit.edu	37	chr6	137527319	137527320	+	Frame_Shift_Ins	INS	-	-	T													actttgcataggcagattctINSttttgtccaaccctggcttt							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:137527318_137527319C>CT	uc003qho.2	-	2	430_431	c.327_328G>AG	c.(325-330)aaagaafs	p.K109fs	IFNGR1_uc011edm.1_Frame_Shift_Ins_p.K81fs|IFNGR1_uc011edn.1_Frame_Shift_Ins_p.K99fs	NM_000416	NP_000407	P15260	INGR1_HUMAN	Homo sapiens interferon gamma receptor 1 (IFNGR1), mRNA.	109					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TAGGCAGATTCTTTTTGTCCAA	0.347													T	137527320	-	T	137527319	7	5	11	1	0	1	1	0	0	0	0	0	7549	1606	56	0	1162	0	IFNGR1	6	137527319	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	4745330	137527319	33587748	438	9277											
TNFAIP3	7128	broad.mit.edu	37	chr6	138196150	138196150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcaggaatttgttgaaaCggggctttgctatgatactc	10	7	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:138196150C>T	uc003qhr.2	+	3	530	c.464C>T	c.(463-465)ACG>ATG	p.T155M	TNFAIP3_uc003qhs.2_Missense_Mutation_p.T155M	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	155	TRAF-binding.|OTU.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(22)|p.T155T(1)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TTTGTTGAAACGGGGCTTTGC	0.512			D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma								T	138196150	C	T	138196150	3	4	11	1	0	0	0	0	1	0	0	0	16271	536	19	1	470	1	TNFAIP3	6	138196150	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	668831	138196150	32918917	439	9278											
TNFAIP3	7128	broad.mit.edu	37	chr6	138199674	138199675	+	Frame_Shift_Del	DEL	GA	GA	-													gaaaacagcgagcaggggagGagagaggggcacgcccagaa							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:138199673_138199674GGA>G	uc003qhr.3	+	6	1157_1158	c.1091_1092GGA>G	c.(1090-1092)aggfs	p.R364fs	TNFAIP3_uc003qhs.3_Frame_Shift_Del_p.R364fs|TNFAIP3_uc021zfv.1_5'UTR	NM_006290	NP_006281	P21580	TNAP3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 3 (TNFAIP3), mRNA.	364					B-1 B cell homeostasis|anti-apoptosis|apoptosis|negative regulation of B cell activation|negative regulation of CD40 signaling pathway|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of bone resorption|negative regulation of endothelial cell apoptosis|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	DNA binding|caspase inhibitor activity|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.R364G(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GAGCAGGGGAGGAGAGAGGGGC	0.475			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"								-	138199675	GA	-	138199674	7	5	11	1	0	1	0	1	0	0	0	0	16271	1165	41	0	1114	0	TNFAIP3	6	138199674	Frame_Shift_Del	DEL	GA	TCGA-BR-4256-01A-01D-1126-08	3524	138199674	32915393	440	9279											
SHPRH	257218	broad.mit.edu	37	chr6	146243472	146243472	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacaattcatcagctttAcaaaagacacagctgaaaaa	6	8	2	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:146243472A>G	uc003qlf.2	-	20	4131	c.3732T>C	c.(3730-3732)TGT>TGC	p.C1244C	SHPRH_uc003qld.2_Silent_p.C1248C|SHPRH_uc003qle.2_Silent_p.C1248C|SHPRH_uc003qlg.1_Silent_p.C800C|SHPRH_uc003qlh.2_Silent_p.C169C|SHPRH_uc003qli.1_Silent_p.C169C	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	1244					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CATCAGCTTTACAAAAGACAC	0.299													G	146243472	A	G	146243472	2	3	11	1	0	0	0	0	0	0	0	1	14291	389	14	3		3	SHPRH	6	146243472	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	8043798	146243472	24871595	441	9280											
RAB32	10981	broad.mit.edu	37	chr6	146865142	146865142	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagcatcatcaagcgctaCgtccaccagctcttctccca	5	18	4	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:146865142C>T	uc003qln.1	+	1	315	c.135C>T	c.(133-135)TAC>TAT	p.Y45Y		NM_006834	NP_006825	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	45					protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding				0		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		TCAAGCGCTACGTCCACCAGC	0.557													T	146865142	C	T	146865142	2	4	11	1	0	0	0	0	0	0	0	1	12921	547	19	1		1	RAB32	6	146865142	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	621670	146865142	24249925	442	9281											
ZC3H12D	340152	broad.mit.edu	37	chr6	149777945	149777945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttcacgatgtagcggtcGtcgtagcagaccaggcgctt	12	12	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:149777945G>A	uc003qmn.1	-	3	607	c.537C>T	c.(535-537)GAC>GAT	p.D179D	PPIL4_uc010kic.2_Intron|ZC3H12D_uc003qmm.2_Silent_p.D179D|ZC3H12D_uc010kid.2_Silent_p.D179D	NM_207360	NP_997243	A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	179						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding				0		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		TGTAGCGGTCGTCGTAGCAGA	0.657													A	149777945	G	A	149777945	2	1	11	1	0	0	0	0	0	0	0	1	17561	1136	40	1		1	ZC3H12D	6	149777945	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2912803	149777945	21337122	443	9282											
SYNE1	23345	broad.mit.edu	37	chr6	152718029	152718029	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgctactgacaatttgTttagacaaatgtgcatacaa	7	6	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:152718029T>G	uc010kiw.2	-	50	8039	c.7437A>C	c.(7435-7437)AAA>AAC	p.K2479N	SYNE1_uc003qot.3_Missense_Mutation_p.K2486N|SYNE1_uc003qou.3_Missense_Mutation_p.K2479N|SYNE1_uc010kjb.1_Missense_Mutation_p.K2462N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2479	Spectrin 4.|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)		TGACAATTTGTTTAGACAAAT	0.383										HNSCC(10;0.0054)			G	152718029	T	G	152718029	3	3	11	1	0	0	0	0	1	0	0	0	15442	1722	60	5	19417	5	SYNE1	6	152718029	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	2940084	152718029	18397038	444	9283											
TIAM2	26230	broad.mit.edu	37	chr6	155578187	155578187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctagagcgagaattcagtGtccagagtttaacatctgtt	9	7	3	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:155578187G>A	uc003qqb.2	+	29	6311	c.5038G>A	c.(5038-5040)GTC>ATC	p.V1680I	TIAM2_uc003qqe.2_Missense_Mutation_p.V1680I|TIAM2_uc010kjj.2_Missense_Mutation_p.V1242I|TIAM2_uc003qqf.2_Missense_Mutation_p.V1056I|TIAM2_uc011efl.1_Missense_Mutation_p.V1024I|TIAM2_uc003qqg.2_Missense_Mutation_p.V992I|TIAM2_uc003qqh.2_Missense_Mutation_p.V605I|uc003qqi.1_5'Flank	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1680					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)		AGAATTCAGTGTCCAGAGTTT	0.428													A	155578187	G	A	155578187	3	1	11	1	0	0	0	0	1	0	0	0	15888	1377	48	4	5132	4	TIAM2	6	155578187	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2860158	155578187	15536880	445	9284											
ARID1B	57492	broad.mit.edu	37	chr6	157405929	157405929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgcctttctccccacatgCgtcccctcatctctccagca	5	20	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:157405929C>T	uc003qqn.2	+	5	2110	c.1958C>T	c.(1957-1959)GCG>GTG	p.A653V	ARID1B_uc003qqo.2_Missense_Mutation_p.A666V|ARID1B_uc003qqp.2_Missense_Mutation_p.A653V|ARID1B_uc003qqq.1_Missense_Mutation_p.A95V	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	711	Ser-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCCCACATGCGTCCCCTCAT	0.612													T	157405929	C	T	157405929	3	4	11	1	0	0	0	0	1	0	0	0	914	768	27	1	2193	1	ARID1B	6	157405929	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1827742	157405929	13709138	446	9285											
TULP4	56995	broad.mit.edu	37	chr6	158923930	158923930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccacccgacagcgcccgcGaccgcaccgactacgtcaac	9	21	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:158923930G>A	uc003qrf.2	+	13	4592	c.3235G>A	c.(3235-3237)GAC>AAC	p.D1079N	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1079					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCGCCCGCGACCGCACCGA	0.687													A	158923930	G	A	158923930	3	1	11	1	0	0	0	0	1	0	0	0	16773	1058	37	1	3285	1	TULP4	6	158923930	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1518001	158923930	12191137	447	9286											
RPS6KA2	6196	broad.mit.edu	37	chr6	166864694	166864694	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctaaacaggtgatgagcgTttgcactcggggggacgcca	14	10	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:166864694T>C	uc003qvb.1	-	13	1322	c.1103A>G	c.(1102-1104)AAC>AGC	p.N368S	RPS6KA2_uc011ego.1_Missense_Mutation_p.N279S|RPS6KA2_uc010kkl.1_Missense_Mutation_p.N279S|RPS6KA2_uc003qvc.1_Missense_Mutation_p.N376S|RPS6KA2_uc003qvd.1_Missense_Mutation_p.N393S	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	368	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GTGATGAGCGTTTGCACTCGG	0.532													C	166864694	T	C	166864694	3	2	11	1	0	0	0	0	1	0	0	0	13651	1725	60	3	1134	3	RPS6KA2	6	166864694	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	7940764	166864694	4250373	448	9287											
KIF25	3834	broad.mit.edu	37	chr6	168430309	168430309	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagcgtgagaagcaggccaGgcctgggtctggagccgtcc	16	12	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:168430309G>T	uc003qwk.1	+	2	306	c.44G>T	c.(43-45)AGG>ATG	p.R15M	KIF25_uc010kkt.1_RNA|KIF25_uc003qwl.1_Missense_Mutation_p.R15M	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	kinesin family member 25 isoform 1	15	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(1)|pancreas(1)	2		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AAGCAGGCCAGGCCTGGGTCT	0.587													T	168430309	G	T	168430309	3	4	11	1	0	0	0	0	1	0	0	0	8293	1000	35	5	46	5	KIF25	6	168430309	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1565615	168430309	2684758	449	9288											
INTS1	26173	broad.mit.edu	37	chr7	1527082	1527082	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggggaggcctccgggggggCcccctgagggccacagggga	22	12	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:1527082C>G	uc003skn.2	-	20	2621	c.2520G>C	c.(2518-2520)GGG>GGC	p.G840G	INTS1_uc003skp.1_Silent_p.G187G	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	840					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCCGGGGGGGCCCCCTGAGGG	0.677													G	1527082	C	G	1527082	2	3	11	1	0	0	0	0	0	0	0	1	7775	726	26	5		5	INTS1	7	1527082	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08		1527082	157611581	450	9289											
EIF3B	8662	broad.mit.edu	37	chr7	2418770	2418770	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccccaacctcatgcataggAattggtggagagaaggcgca	12	10	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:2418770A>G	uc003slx.2	+	17	2317	c.2234A>G	c.(2233-2235)GAA>GGA	p.E745G	EIF3B_uc003sly.2_Missense_Mutation_p.E745G|EIF3B_uc003sma.2_Missense_Mutation_p.E473G|EIF3B_uc003smb.2_RNA	NM_003751	NP_003742	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3,	745					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity				0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATGCATAGGAATTGGTGGAG	0.547													G	2418770	A	G	2418770	3	3	11	1	0	0	0	0	1	0	0	0	5013	260	9	3	2300	3	EIF3B	7	2418770	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	891688	2418770	156719893	451	9290											
SDK1	221935	broad.mit.edu	37	chr7	4218194	4218194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcccagccagcgcgcccGtggaggtctttgtcggcgag	16	13	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:4218194G>A	uc003smx.2	+	35	5213	c.5074G>A	c.(5074-5076)GTG>ATG	p.V1692M	SDK1_uc010kso.2_Missense_Mutation_p.V948M|SDK1_uc003smy.2_Missense_Mutation_p.V179M	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1692	Fibronectin type-III 10.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGCGCGCCCGTGGAGGTCTT	0.592													A	4218194	G	A	4218194	3	1	11	1	0	0	0	0	1	0	0	0	13968	1145	40	1	5212	1	SDK1	7	4218194	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1799424	4218194	154920469	452	9291											
GLCCI1	113263	broad.mit.edu	37	chr7	8062115	8062115	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatatatattttttaaagacAcctagctgttgggcagaaga	8	5	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:8062115A>G	uc003srk.2	+	3	1171	c.612A>G	c.(610-612)ACA>ACG	p.T204T		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	204											0		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		ttttaaaGACACCTAGCTGTT	0.343													G	8062115	A	G	8062115	2	3	11	1	0	0	0	0	0	0	0	1	6431	146	6	3		3	GLCCI1	7	8062115	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	3843921	8062115	151076548	453	9292											
ICA1	3382	broad.mit.edu	37	chr7	8198199	8198199	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacaagagattgcatctgctCgctccaagaagatccacttt	8	11	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:8198199C>T	uc003srm.2	-	7	730	c.663G>A	c.(661-663)GCG>GCA	p.A221A	ICA1_uc010ktr.2_Silent_p.A221A|ICA1_uc003srl.2_Silent_p.A209A|ICA1_uc003srn.3_Silent_p.A147A|ICA1_uc003srp.3_Silent_p.A220A|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Silent_p.A221A|ICA1_uc003srr.2_Silent_p.A220A|ICA1_uc003sro.3_Silent_p.A221A|ICA1_uc011jxg.1_Silent_p.A221A|ICA1_uc003srs.1_Silent_p.A221A	NM_022307	NP_071682	Q05084	ICA69_HUMAN	islet cell autoantigen 1	221	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				central_nervous_system(1)	1		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TGCATCTGCTCGCTCCAAGAA	0.373													T	8198199	C	T	8198199	2	4	11	1	0	0	0	0	0	0	0	1	7477	871	31	1		1	ICA1	7	8198199	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	136084	8198199	150940464	454	9293											
PHF14	9678	broad.mit.edu	37	chr7	11080314	11080314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatagaagttgaatataccgGcaattttgcgagcacccaag	9	8	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:11080314G>A	uc003sry.1	+	12	2527	c.2092G>A	c.(2092-2094)GCA>ACA	p.A698T	PHF14_uc011jxi.1_Missense_Mutation_p.A413T|PHF14_uc003srz.2_Missense_Mutation_p.A698T|PHF14_uc011jxj.1_Missense_Mutation_p.A413T	NM_014660	NP_055475	O94880	PHF14_HUMAN	PHD finger protein 14 isoform 2	698							zinc ion binding			kidney(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GAATATACCGGCAATTTTGCG	0.348													A	11080314	G	A	11080314	3	1	11	1	0	0	0	0	1	0	0	0	11825	1203	42	2	2138	2	PHF14	7	11080314	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2882115	11080314	148058349	455	9294											
SCIN	85477	broad.mit.edu	37	chr7	12668796	12668796	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaattctatggtggtgActgctacatcatactctaca	9	8	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:12668796A>G	uc003ssn.3	+	9	1478	c.1268A>G	c.(1267-1269)GAC>GGC	p.D423G	SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Missense_Mutation_p.D176G	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN	scinderin isoform 1	423	Ca(2+)-dependent actin binding.|Gelsolin-like 4.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TATGGTGGTGACTGCTACATC	0.408													G	12668796	A	G	12668796	3	3	11	1	0	0	0	0	1	0	0	0	13905	275	10	3	1302	3	SCIN	7	12668796	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	1588482	12668796	146469867	456	9295											
AHR	196	broad.mit.edu	37	chr7	17379636	17379636	+	Frame_Shift_Del	DEL	C	C	-													agttttgaaccatccccataCcccactacttctagtttaga							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:17379635_17379635AC>A	uc011jxz.1	+	9	2799	c.2186_2186AC>A	c.(2185-2187)tacfs	p.Y729fs		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	729					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CCATCCCCATACCCCACTACT	0.393													-	17379636	C	-	17379636	7	5	11	1	0	1	0	1	0	0	0	0	416	518	18	0	2225	0	AHR	7	17379636	Frame_Shift_Del	DEL	C	TCGA-BR-4256-01A-01D-1126-08	4710840	17379636	141759027	457	9296											
ABCB5	340273	broad.mit.edu	37	chr7	20793131	20793131	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgataatgacagtgagaaggTaacatcattttcttttatct	7	6	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:20793131T>C	uc003suw.3	+	18	2787	c.2241_splice	c.e18+2	p.K747_splice	ABCB5_uc010kuh.2_Splice_Site_p.K1192_splice	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5						regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						AGTGAGAAGGTAACATCATTT	0.373													C	20793131	T	C	20793131	5	2	11	1	0	0	0	0	0	0	1	0	44	1652	57	3	3721	3	ABCB5	7	20793131	Splice_Site	SNP	T	TCGA-BR-4256-01A-01D-1126-08	3413495	20793131	138345532	458	9297											
DNAH11	8701	broad.mit.edu	37	chr7	21742378	21742378	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagtctgtcttggttgtggcTggatctctgaaacgaggaga	14	6	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:21742378T>A	uc003svc.2	+	38	6283	c.6252T>A	c.(6250-6252)GCT>GCA	p.A2084A		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2084					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TGGTTGTGGCTGGATCTCTGA	0.403									Kartagener_syndrome				A	21742378	T	A	21742378	2	1	11	1	0	0	0	0	0	0	0	1	4599	1567	55	5		5	DNAH11	7	21742378	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	949247	21742378	137396285	459	9298											
RAPGEF5	9771	broad.mit.edu	37	chr7	22175700	22175700	+	Frame_Shift_Del	DEL	T	T	-													ggatttttggtggcttcatcTttttgaatgcatctctgtag							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:22175699_22175699CT>C	uc003svg.3	-	22	2227	c.1914_1914AG>G	c.(1912-1914)aagfs	p.K638fs	RAPGEF5_uc011jyl.1_Frame_Shift_Del_p.K319fs	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	488					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						GTGGCTTCATCTTTTTGAATG	0.338													-	22175700	T	-	22175700	7	5	11	1	0	1	0	1	0	0	0	0	13047	1609	56	0	295	0	RAPGEF5	7	22175700	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	433322	22175700	136962963	460	9299											
HOXA3	3200	broad.mit.edu	37	chr7	27148111	27148111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacgttagcatgcccttgCccttctgatcctttttgtac	7	12	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:27148111C>T	uc011jzl.1	-	3	955	c.755G>A	c.(754-756)GGC>GAC	p.G252D	HOXA3_uc011jzk.1_Missense_Mutation_p.G94D|HOXA3_uc003syk.2_Missense_Mutation_p.G252D	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	252					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2						CATGCCCTTGCCCTTCTGATC	0.592													T	27148111	C	T	27148111	3	4	11	1	0	0	0	0	1	0	0	0	7293	739	26	2	580	2	HOXA3	7	27148111	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	4972411	27148111	131990552	461	9300											
TAX1BP1	8887	broad.mit.edu	37	chr7	27855995	27855995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggagtctagaaaatccaGcagaaaggaaaatggaaggt	12	4	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:27855995G>A	uc003szl.2	+	14	1950	c.1792G>A	c.(1792-1794)GCA>ACA	p.A598T	TAX1BP1_uc011jzo.1_Missense_Mutation_p.A598T|TAX1BP1_uc003szk.2_Missense_Mutation_p.A598T|TAX1BP1_uc011jzp.1_Missense_Mutation_p.A441T	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	598	Potential.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)	1			GBM - Glioblastoma multiforme(3;0.0823)			AGAAAATCCAGCAGAAAGGAA	0.323													A	27855995	G	A	27855995	3	1	11	1	0	0	0	0	1	0	0	0	15591	971	34	2	1842	2	TAX1BP1	7	27855995	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	707884	27855995	131282668	462	9301											
PDE1C	5137	broad.mit.edu	37	chr7	31862835	31862835	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgacacctgatcgcttGgcatctgacgagctgatgct	11	11	2	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:31862835G>A	uc003tcm.1	-	14	1903	c.1434C>T	c.(1432-1434)GCC>GCT	p.A478A	PDE1C_uc003tcn.1_Silent_p.A478A|PDE1C_uc003tco.1_Silent_p.A538A|PDE1C_uc003tcr.2_Silent_p.A478A|PDE1C_uc003tcs.2_Silent_p.A478A	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	478	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			CTGATCGCTTGGCATCTGACG	0.443													A	31862835	G	A	31862835	2	1	11	1	0	0	0	0	0	0	0	1	11635	1335	47	4		4	PDE1C	7	31862835	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	4006840	31862835	127275828	463	9302											
ELMO1	9844	broad.mit.edu	37	chr7	37251045	37251045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggacttgcgtttctccatGctgccactgctgttgttagg	11	10	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:37251045G>A	uc003tfk.1	-	13	1339	c.1032C>T	c.(1030-1032)AGC>AGT	p.S344S	ELMO1_uc011kbc.1_Silent_p.S248S|ELMO1_uc010kxg.1_Silent_p.S344S	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	344	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						GTTTCTCCATGCTGCCACTGC	0.468													A	37251045	G	A	37251045	2	1	11	1	0	0	0	0	0	0	0	1	5065	1310	46	2		2	ELMO1	7	37251045	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	5388210	37251045	121887618	464	9303											
CDK13	8621	broad.mit.edu	37	chr7	40132819	40132819	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcaggccacctccagaacCtagcactccggtgtcgggta	10	15	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:40132819C>A	uc003thh.3	+	13	3953	c.3671C>A	c.(3670-3672)CCT>CAT	p.P1224H	CDK13_uc003thi.3_Missense_Mutation_p.P1164H|CDK13_uc003thj.2_Missense_Mutation_p.P275H|CDK13_uc003thk.2_Missense_Mutation_p.P157H	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1224					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						CCTCCAGAACCTAGCACTCCG	0.453													A	40132819	C	A	40132819	3	1	11	1	0	0	0	0	1	0	0	0	3129	681	24	5	3721	5	CDK13	7	40132819	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2881774	40132819	119005844	465	9304											
AEBP1	165	broad.mit.edu	37	chr7	44153301	44153301	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaatgttgactatgacaTcggggccactcagtgcaact	10	11	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:44153301T>C	uc003tkb.2	+	21	3223	c.2918T>C	c.(2917-2919)ATC>ACC	p.I973T	AEBP1_uc003tkc.3_Missense_Mutation_p.I548T|AEBP1_uc003tkd.2_Missense_Mutation_p.I223T	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	973	Interaction with PTEN (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GACTATGACATCGGGGCCACT	0.592													C	44153301	T	C	44153301	3	2	11	1	0	0	0	0	1	0	0	0	349	1435	50	3	3000	3	AEBP1	7	44153301	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	4020482	44153301	114985362	466	9305											
GCK	2645	broad.mit.edu	37	chr7	44187337	44187337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgccggagtccccgaaggCgccccactcggtattgacgc	12	17	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:44187337C>T	uc003tkl.2	-	7	1245	c.775G>A	c.(775-777)GCC>ACC	p.A259T	GCK_uc003tkh.1_5'Flank|GCK_uc003tki.1_5'Flank|GCK_uc003tkj.1_Missense_Mutation_p.A258T|GCK_uc003tkk.1_Missense_Mutation_p.A260T	NM_000162	NP_000153	P35557	HXK4_HUMAN	glucokinase isoform 1	259			A -> T (in MODY2).		cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			skin(3)|lung(1)	4						TCCCCGAAGGCGCCCCACTCG	0.642													T	44187337	C	T	44187337	3	4	11	1	0	0	0	0	1	0	0	0	6293	768	27	1	638	1	GCK	7	44187337	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	34036	44187337	114951326	467	9306											
SUN3	256979	broad.mit.edu	37	chr7	48068494	48068494	+	Frame_Shift_Del	DEL	A	A	-													gcgtcttcagagcaacgtctAaaaaacatggcagcccttct							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:48068493_48068493TA>T	uc003tof.3	-	1	140	c.43_43TA>A	c.(43-45)agafs	p.R15fs	SUN3_uc003tog.3_Frame_Shift_Del_p.R15fs|SUN3_uc011kcf.2_5'UTR	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.	15						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGCAACGTCTAAAAAACATG	0.473													-	48068494	A	-	48068494	7	5	11	1	0	1	0	1	0	0	0	0	15390	359	13	0	1071	0	SUN3	7	48068494	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	3881157	48068494	111070169	468	9307											
COBL	23242	broad.mit.edu	37	chr7	51098597	51098597	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatttgaggctgtgacagcTttttcagttctagggaagac	11	7	3	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:51098597T>C	uc003tpr.3	-	9	1601	c.1416A>G	c.(1414-1416)AAA>AAG	p.K472K	COBL_uc003tps.2_Silent_p.K529K|COBL_uc011kcl.1_Silent_p.K472K|COBL_uc003tpp.3_Silent_p.K258K|COBL_uc003tpq.3_Silent_p.K413K|COBL_uc003tpo.3_Silent_p.K14K	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	472										skin(3)|ovary(2)	5	Glioma(55;0.08)					CTGTGACAGCTTTTTCAGTTC	0.413													C	51098597	T	C	51098597	2	2	11	1	0	0	0	0	0	0	0	1	3653	1606	56	3		3	COBL	7	51098597	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	3030103	51098597	108040066	469	9308											
SEC61G	23480	broad.mit.edu	37	chr7	54823470	54823470	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatttcataaagtttacttAcacaatgatgttattaatag	4	5	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:54823470A>G	uc003tqf.2	-	3	288	c.197_splice	c.e3+1	p.V66_splice	SEC61G_uc003tqg.2_Splice_Site_p.V66_splice	NM_001012456	NP_001012474	P60059	SC61G_HUMAN	Sec61 gamma subunit						protein targeting to ER	endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			lung(1)	1	Esophageal squamous(2;7.55e-08)|Breast(14;0.0654)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)			AAGTTTACTTACACAATGATG	0.333													G	54823470	A	G	54823470	5	3	11	1	0	0	0	0	0	0	1	0	14003	405	14	3	15	3	SEC61G	7	54823470	Splice_Site	SNP	A	TCGA-BR-4256-01A-01D-1126-08	3724873	54823470	104315193	470	9309											
ZNF138	7697	broad.mit.edu	37	chr7	64275387	64275387	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggaatgtatataggcatgTgatgttagagaactacagaa	12	4	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:64275387T>C	uc011kdp.1	+	2	271	c.95T>C	c.(94-96)GTG>GCG	p.V32A	ZNF138_uc003ttg.2_5'UTR|ZNF138_uc011kdq.1_Missense_Mutation_p.V32A|ZNF138_uc003tth.2_Intron|ZNF138_uc010kzs.2_Missense_Mutation_p.V26A	NM_001160183	NP_001153655	B4DFX2	B4DFX2_HUMAN	zinc finger protein 138 isoform 2	32					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding				0		Lung NSC(55;0.0795)|all_lung(88;0.18)				TATAGGCATGTGATGTTAGAG	0.393													C	64275387	T	C	64275387	3	2	11	1	0	0	0	0	1	0	0	0	17724	1696	59	3	101	3	ZNF138	7	64275387	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	9451917	64275387	94863276	471	9310											
TYW1	55253	broad.mit.edu	37	chr7	66479405	66479405	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgcgacatacactgacggcCtaccaactgaaagtgcagag	10	11	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:66479405C>A	uc003tvn.2	+	5	576	c.427C>A	c.(427-429)CTA>ATA	p.L143I	TYW1_uc010lai.2_RNA	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	radical S-adenosyl methionine and flavodoxin	143	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			skin(1)	1		Lung NSC(55;0.0846)|all_lung(88;0.183)				CACTGACGGCCTACCAACTGA	0.408													A	66479405	C	A	66479405	3	1	11	1	0	0	0	0	1	0	0	0	16815	680	24	5	445	5	TYW1	7	66479405	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2204018	66479405	92659258	472	9311											
SPDYE5	442590	broad.mit.edu	37	chr7	75131017	75131017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagtcctgttccagaaacgtCggttccagttcttctgttcc	8	12	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:75131017C>T	uc011kfy.1	+	6	1028	c.892C>T	c.(892-894)CGG>TGG	p.R298W		NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	speedy homolog E5	298	Arg-rich.										0						CCAGAAACGTCGGTTCCAGTT	0.597													T	75131017	C	T	75131017	3	4	11	1	0	0	0	0	1	0	0	0	15031	875	31	1	914	1	SPDYE5	7	75131017	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	8651612	75131017	84007646	473	9312											
FGL2	10875	broad.mit.edu	37	chr7	76825822	76825822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacagttcccagaaggatatCgatcattgtctttatctgga	8	9	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:76825822C>T	uc003ugb.2	-	2	1134	c.1094G>A	c.(1093-1095)CGA>CAA	p.R365Q	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	fibrinogen-like 2 precursor	365	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			skin(2)	2						AGAAGGATATCGATCATTGTC	0.398													T	76825822	C	T	76825822	3	4	11	1	0	0	0	0	1	0	0	0	5873	884	31	1	229	1	FGL2	7	76825822	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1694805	76825822	82312841	474	9313											
PCLO	27445	broad.mit.edu	37	chr7	82578856	82578857	+	Frame_Shift_Ins	INS	-	-	T													tgctgttggactcagaggctINStggggtcagacatagaacgc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:82578855_82578856C>CT	uc003uhx.2	-	5	11337_11338	c.11048_11049G>AG	c.(11047-11049)aagfs	p.K3683fs	PCLO_uc003uhv.2_Frame_Shift_Ins_p.K3683fs|PCLO_uc010lec.3_Frame_Shift_Ins_p.K648fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3614					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GACTCAGAGGCTTGGGGTCAGA	0.475													T	82578857	-	T	82578856	7	5	11	1	0	1	1	0	0	0	0	0	11583	1609	56	0	4477	0	PCLO	7	82578856	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	5753034	82578856	76559807	475	9314											
PCLO	27445	broad.mit.edu	37	chr7	82580130	82580130	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcatagactgcagctcCtccaactttttctgaaccat	5	13	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:82580130C>T	uc003uhx.2	-	6	10063	c.9774G>A	c.(9772-9774)GAG>GAA	p.E3258E	PCLO_uc003uhv.2_Silent_p.E3258E|PCLO_uc010lec.2_Silent_p.E223E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3189	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ACTGCAGCTCCTCCAACTTTT	0.458													T	82580130	C	T	82580130	2	4	11	1	0	0	0	0	0	0	0	1	11583	680	24	4		4	PCLO	7	82580130	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1274	82580130	76558533	476	9315											
PCLO	27445	broad.mit.edu	37	chr7	82584742	82584742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccatttctgcagcctgacGtaactcttctgtcggagatg	9	12	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:82584742G>A	uc003uhx.2	-	5	5816	c.5527C>T	c.(5527-5529)CGT>TGT	p.R1843C	PCLO_uc003uhv.2_Missense_Mutation_p.R1843C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1774					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GCAGCCTGACGTAACTCTTCT	0.448													A	82584742	G	A	82584742	3	1	11	1	0	0	0	0	1	0	0	0	11583	1145	40	1	10002	1	PCLO	7	82584742	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	4612	82584742	76553921	477	9316											
STEAP4	79689	broad.mit.edu	37	chr7	87913386	87913386	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttggctgcttctgaatAgctcaagacttctgcaccac	7	13	4	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:87913386A>G	uc003ujs.2	-	2	304	c.199T>C	c.(199-201)TAT>CAT	p.Y67H	STEAP4_uc010lek.2_Missense_Mutation_p.Y67H|STEAP4_uc003ujt.2_Missense_Mutation_p.Y67H	NM_024636	NP_078912	Q687X5	STEA4_HUMAN	tumor necrosis factor, alpha-induced protein 9	67					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	Esophageal squamous(14;0.00802)					GCTTCTGAATAGCTCAAGACT	0.428													G	87913386	A	G	87913386	3	3	11	1	0	0	0	0	1	0	0	0	15279	420	15	3	1196	3	STEAP4	7	87913386	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	5328644	87913386	71225277	478	9317											
CCDC132	55610	broad.mit.edu	37	chr7	92926504	92926504	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtagcaagtctgaagtttTacaggaatctattagaaaac	9	5	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:92926504T>C	uc003umo.2	+	16	1438	c.1310T>C	c.(1309-1311)TTA>TCA	p.L437S	CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.L407S|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.L157S	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132 isoform a	437											0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTGAAGTTTTACAGGAATCT	0.313													C	92926504	T	C	92926504	3	2	11	1	0	0	0	0	1	0	0	0	2767	1764	61	3	1414	3	CCDC132	7	92926504	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	5013118	92926504	66212159	479	9318											
OCM2	4951	broad.mit.edu	37	chr7	97617763	97617763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagatacccgctctggtcGttgtctatgaaccggaaaac	9	12	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:97617763G>A	uc003upc.2	-	2	159	c.159C>T	c.(157-159)AAC>AAT	p.N53N		NM_006188	NP_006179	P0CE71	OCM2_HUMAN	oncomodulin-like	53	EF-hand 1.|1 (Potential).						calcium ion binding				0						CGCTCTGGTCGTTGTCTATGA	0.537													A	97617763	G	A	97617763	2	1	11	1	0	0	0	0	0	0	0	1	10822	1136	40	1		1	OCM2	7	97617763	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	4691259	97617763	61520900	480	9319											
CYP3A5	1577	broad.mit.edu	37	chr7	99262895	99262895	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtcgatgttcactccaaaTgatgtgccagtaatcacatc	8	10	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:99262895T>C	uc003urq.2	-	7	651	c.564A>G	c.(562-564)TCA>TCG	p.S188S	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_Silent_p.S8S|CYP3A5_uc003urr.2_Silent_p.S75S|CYP3A5_uc011kiy.1_Silent_p.S178S|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000777	NP_000768	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A,	188					alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541)	TCACTCCAAATGATGTGCCAG	0.413													C	99262895	T	C	99262895	2	2	11	1	0	0	0	0	0	0	0	1	4180	1451	51	3		3	CYP3A5	7	99262895	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	1645132	99262895	59875768	481	9320											
OR2AE1	81392	broad.mit.edu	37	chr7	99474306	99474306	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acatagcggtcataggacatGacagctaagagaaaacattc	9	8	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:99474306G>A	uc003usc.1	-	1	351	c.351C>T	c.(349-351)GTC>GTT	p.V117V		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CATAGGACATGACAGCTAAGA	0.478													A	99474306	G	A	99474306	2	1	11	1	0	0	0	0	0	0	0	1	10983	1277	45	4		4	OR2AE1	7	99474306	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	211411	99474306	59664357	482	9321											
ZNF3	7551	broad.mit.edu	37	chr7	99669329	99669329	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctgaaggttttcccacaatCactacattcataaggttttt	6	9	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:99669329C>T	uc003usq.2	-	6	1085	c.778G>A	c.(778-780)GAT>AAT	p.D260N	ZNF3_uc003usp.2_Intron|ZNF3_uc003usr.2_Missense_Mutation_p.D260N|ZNF3_uc010lgj.2_Missense_Mutation_p.D224N|ZNF3_uc003uss.2_Missense_Mutation_p.D267N|ZNF3_uc003ust.3_Missense_Mutation_p.D260N	NM_032924	NP_116313	P17036	ZNF3_HUMAN	zinc finger protein 3 isoform 2	260	C2H2-type 3.				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TTCCCACAATCACTACATTCA	0.483													T	99669329	C	T	99669329	3	4	11	1	0	0	0	0	1	0	0	0	17826	826	29	4	695	4	ZNF3	7	99669329	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	195023	99669329	59469334	483	9322											
C7orf51	222950	broad.mit.edu	37	chr7	100086071	100086071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccccctcttgggggtgggGgcccgacccctccagcgggc	17	17	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:100086071G>A	uc003uvd.1	+	4	886	c.727G>A	c.(727-729)GGC>AGC	p.G243S	C7orf51_uc003uve.1_Missense_Mutation_p.G25S	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	243	Poly-Gly.									skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGGGGTGGGGGCCCGACCCC	0.647													A	100086071	G	A	100086071	3	1	11	1	0	0	0	0	1	0	0	0	2400	1232	43	4	737	4	C7orf51	7	100086071	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	416742	100086071	59052592	484	9323											
EPHB4	2050	broad.mit.edu	37	chr7	100420130	100420130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactttttgtagaagaggtGcagggatagcagggccatgc	15	7	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:100420130G>A	uc003uwn.1	-	4	1062	c.571C>T	c.(571-573)CAC>TAC	p.H191Y	EPHB4_uc003uwm.1_Missense_Mutation_p.H98Y|EPHB4_uc010lhj.1_Missense_Mutation_p.H191Y|EPHB4_uc011kkf.1_Missense_Mutation_p.H191Y|EPHB4_uc011kkg.1_Missense_Mutation_p.H191Y|EPHB4_uc011kkh.1_Missense_Mutation_p.H191Y	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	191	Extracellular (Potential).|Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					TAGAAGAGGTGCAGGGATAGC	0.612													A	100420130	G	A	100420130	3	1	11	1	0	0	0	0	1	0	0	0	5177	1319	46	2	2448	2	EPHB4	7	100420130	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	334059	100420130	58718533	485	9324											
SLC12A9	56996	broad.mit.edu	37	chr7	100453458	100453458	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttgatgtcttcggggcCggtctgtgctctgtccgatc	14	11	3	1	rs140479354	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:100453458C>T	uc003uwp.2	+	4	589	c.447C>T	c.(445-447)GCC>GCT	p.A149A	SLC12A9_uc003uwo.1_Intron|SLC12A9_uc003uwq.2_Intron|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'UTR|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_5'Flank|SLC12A9_uc003uwv.2_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	149	Extracellular (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCTTCGGGGCCGGTCTGTGCT	0.617													T	100453458	C	T	100453458	2	4	11	1	0	0	0	0	0	0	0	1	14390	666	23	1		1	SLC12A9	7	100453458	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	33328	100453458	58685205	486	9325											
SRRT	51593	broad.mit.edu	37	chr7	100478930	100478930	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaccgtggccgtgagcgCcgtagtcggggtgaatatcg	18	9	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:100478930C>T	uc003uwy.2	+	4	415	c.147C>T	c.(145-147)CGC>CGT	p.R49R	SRRT_uc010lhl.1_Silent_p.R49R|SRRT_uc003uxa.2_Silent_p.R49R|SRRT_uc003uwz.2_Silent_p.R49R	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	49	Arg-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						GCCGTGAGCGCCGTAGTCGGG	0.448													T	100478930	C	T	100478930	2	4	11	1	0	0	0	0	0	0	0	1	15171	726	26	2		2	SRRT	7	100478930	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	25472	100478930	58659733	487	9326											
MUC17	140453	broad.mit.edu	37	chr7	100682851	100682851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcaacaactcctgttgaCaccagcacacctgtcaccac	4	17	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:100682851C>T	uc003uxp.1	+	3	8207	c.8154C>T	c.(8152-8154)GAC>GAT	p.D2718D	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2718	Extracellular (Potential).|43.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CTCCTGTTGACACCAGCACAC	0.483													T	100682851	C	T	100682851	2	4	11	1	0	0	0	0	0	0	0	1	9974	477	17	4		4	MUC17	7	100682851	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	203921	100682851	58455812	488	9327											
ORAI2	80228	broad.mit.edu	37	chr7	102087353	102087353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccatcatcatggtgcccGtgggcctcatcttcgtggtc	10	15	4	0	rs149386719		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:102087353G>A	uc010lhz.1	+	4	854	c.619G>A	c.(619-621)GTG>ATG	p.V207M	ORAI2_uc003uzj.2_Missense_Mutation_p.V207M|ORAI2_uc003uzk.2_Missense_Mutation_p.V207M|ORAI2_uc011kks.1_Missense_Mutation_p.V130M	NM_001126340	NP_001119812	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator	207	Helical; (Potential).					integral to membrane	protein binding			ovary(1)|kidney(1)	2						CATGGTGCCCGTGGGCCTCAT	0.672													A	102087353	G	A	102087353	3	1	11	1	0	0	0	0	1	0	0	0	11258	1145	40	1	625	1	ORAI2	7	102087353	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1404502	102087353	57051310	489	9328											
CDHR3	222256	broad.mit.edu	37	chr7	105653434	105653434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatctggagtggggagcgGcagcagatttttacaggatc	15	8	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:105653434G>A	uc003vdl.3	+	9	1289	c.1181G>A	c.(1180-1182)GGC>GAC	p.G394D	CDHR3_uc003vdk.2_Missense_Mutation_p.G42D|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Missense_Mutation_p.G381D|CDHR3_uc011klt.1_Missense_Mutation_p.G306D|CDHR3_uc003vdn.2_Missense_Mutation_p.G111D	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	394	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						GTGGGGAGCGGCAGCAGATTT	0.473													A	105653434	G	A	105653434	3	1	11	1	0	0	0	0	1	0	0	0	3120	1203	42	2	1215	2	CDHR3	7	105653434	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3566081	105653434	53485229	490	9329											
CBLL1	79872	broad.mit.edu	37	chr7	107399402	107399402	+	Frame_Shift_Del	DEL	C	C	-													gtggtccacctgtaactgcaCcccctcctcaccattataat							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:107399401_107399401AC>A	uc003veq.3	+	5	1584	c.1254_1254AC>A	c.(1252-1254)gcafs	p.A418fs	CBLL1_uc011kme.2_Frame_Shift_Del_p.A297fs|CBLL1_uc011kmf.2_Frame_Shift_Del_p.A417fs	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA.	418	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CTGTAACTGCACCCCCTCCTC	0.517													-	107399402	C	-	107399402	7	5	11	1	0	1	0	1	0	0	0	0	2703	507	18	0	1277	0	CBLL1	7	107399402	Frame_Shift_Del	DEL	C	TCGA-BR-4256-01A-01D-1126-08	1745968	107399402	51739261	491	9330											
LAMB1	3912	broad.mit.edu	37	chr7	107580698	107580698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacccccgagtaccctcgcGtgcacttgtcacagcgtgga	11	15	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:107580698G>A	uc003vew.2	-	25	3832	c.3497C>T	c.(3496-3498)ACG>ATG	p.T1166M	LAMB1_uc003vev.2_Missense_Mutation_p.T1190M	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	1166	Laminin EGF-like 13.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTACCCTCGCGTGCACTTGTC	0.602													A	107580698	G	A	107580698	3	1	11	1	0	0	0	0	1	0	0	0	8610	1145	40	1	1903	1	LAMB1	7	107580698	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	181296	107580698	51557965	492	9331											
NRCAM	4897	broad.mit.edu	37	chr7	107807442	107807442	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaactcgaactttgtatgcTgttcctggcattagaccctt	7	12	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:107807442T>C	uc003vfb.2	-	30	3861	c.3390A>G	c.(3388-3390)ACA>ACG	p.T1130T	NRCAM_uc003vfc.2_Intron|NRCAM_uc011kmk.1_Intron|NRCAM_uc003vfd.2_Intron|NRCAM_uc003vfe.2_Intron|NRCAM_uc011kmj.1_Intron	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	1130	Fibronectin type-III 5.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						CTTTGTATGCTGTTCCTGGCA	0.453													C	107807442	T	C	107807442	2	2	11	1	0	0	0	0	0	0	0	1	10644	1567	55	3		3	NRCAM	7	107807442	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	226744	107807442	51331221	493	9332											
LRRN3	54674	broad.mit.edu	37	chr7	110764283	110764283	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacactagatataaatggCgtaactcccaaagaaggggg	12	7	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:110764283C>T	uc003vft.3	+	4	2501	c.1455C>T	c.(1453-1455)GGC>GGT	p.G485G	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.G485G|LRRN3_uc003vfs.3_Silent_p.G485G	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	485	Extracellular (Potential).|Ig-like C2-type.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ATATAAATGGCGTAACTCCCA	0.408													T	110764283	C	T	110764283	2	4	11	1	0	0	0	0	0	0	0	1	9036	755	27	1		1	LRRN3	7	110764283	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2956841	110764283	48374380	494	9333											
CTTNBP2	83992	broad.mit.edu	37	chr7	117417627	117417627	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgttggcgtggttaaTgaggtctgcaggaacaacag	13	7	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:117417627T>C	uc003vjf.2	-	8	2808	c.2716A>G	c.(2716-2718)ATT>GTT	p.I906V		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	906										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCGTGGTTAATGAGGTCTGCA	0.502													C	117417627	T	C	117417627	3	2	11	1	0	0	0	0	1	0	0	0	4045	1464	51	3	2339	3	CTTNBP2	7	117417627	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	6653344	117417627	41721036	495	9334											
CPA5	93979	broad.mit.edu	37	chr7	130008355	130008355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtatggcttcctgctgccgGccacacagatcatccccacg	9	16	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:130008355G>A	uc010lmd.1	+	14	1848	c.1228G>A	c.(1228-1230)GCC>ACC	p.A410T	CPA5_uc003vps.2_Missense_Mutation_p.A410T|CPA5_uc003vpt.2_Silent_p.R381R|CPA5_uc010lme.1_Missense_Mutation_p.A410T|CPA5_uc003vpu.1_Missense_Mutation_p.A410T|uc003vpv.1_RNA	NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5 isoform 1	410					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2	Melanoma(18;0.0435)					CCTGCTGCCGGCCACACAGAT	0.612													A	130008355	G	A	130008355	3	1	11	1	0	0	0	0	1	0	0	0	3793	1203	42	2	1270	2	CPA5	7	130008355	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	12590728	130008355	29130308	496	9335											
PLXNA4	91584	broad.mit.edu	37	chr7	131859587	131859587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattcctgggaacagcacccGcatggtgtaagttctatagt	10	9	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:131859587G>A	uc003vra.3	-	21	4196	c.3967C>T	c.(3967-3969)CGG>TGG	p.R1323W		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1323	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						AACAGCACCCGCATGGTGTAA	0.512													A	131859587	G	A	131859587	3	1	11	1	0	0	0	0	1	0	0	0	12122	1086	38	1	1765	1	PLXNA4	7	131859587	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1851232	131859587	27279076	497	9336											
CNOT4	4850	broad.mit.edu	37	chr7	135106951	135106951	+	Frame_Shift_Del	DEL	T	T	-													aacctacaacaaagacgaggTttttttgtacgacacgtaca							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:135106950_135106950GT>G	uc003vsv.2	-	2	658	c.327_327AC>C	c.(325-327)aacfs	p.N109fs	CNOT4_uc011kpy.2_Frame_Shift_Del_p.N109fs|CNOT4_uc011kpz.2_Frame_Shift_Del_p.N109fs|CNOT4_uc003vst.3_Frame_Shift_Del_p.N109fs|CNOT4_uc003vss.3_Frame_Shift_Del_p.N109fs|CNOT4_uc003vsu.2_Frame_Shift_Del_p.N109fs	NM_001190848	NP_001177777	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 4, mRNA.	109	RRM.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CAAAGACGAGGTTTTTTTGTA	0.353													-	135106951	T	-	135106951	7	5	11	1	0	1	0	1	0	0	0	0	3621	1725	60	0	1734	0	CNOT4	7	135106951	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	3247364	135106951	24031712	498	9337											
NUP205	23165	broad.mit.edu	37	chr7	135291627	135291628	+	Frame_Shift_Ins	INS	-	-	A													cctgttgggctttgaattgaINSaaaaacctgtcagtactaca							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:135291626_135291627G>GA	uc003vsw.3	+	20	3064_3065	c.3033_3034G>GA	c.(3031-3036)ttgaaafs	p.L1011fs		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1011					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GCTTTGAATTGAAAAAACCTGT	0.401													A	135291628	-	A	135291627	7	5	11	1	0	1	1	0	0	0	0	0	10759	247	9	0	3116	0	NUP205	7	135291627	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	184676	135291627	23847036	499	9338											
NUP205	23165	broad.mit.edu	37	chr7	135301989	135301989	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggggacagacagtctgcaaTgtcaaggtgaggattgcttt	14	7	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:135301989T>C	uc003vsw.2	+	26	3715	c.3684T>C	c.(3682-3684)AAT>AAC	p.N1228N	NUP205_uc003vsx.2_5'Flank	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1228					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						CAGTCTGCAATGTCAAGGTGA	0.403													C	135301989	T	C	135301989	2	2	11	1	0	0	0	0	0	0	0	1	10759	1461	51	3		3	NUP205	7	135301989	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	10362	135301989	23836674	500	9339											
KIAA1549	57670	broad.mit.edu	37	chr7	138603265	138603265	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagttggtgaagcagaggaCgcaaatgcaagaggagttga	15	5	1	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:138603265C>T	uc011kql.1	-	2	1156	c.1107G>A	c.(1105-1107)GCG>GCA	p.A369A	KIAA1549_uc003vuk.3_Silent_p.A319A|KIAA1549_uc011kqj.1_Silent_p.A369A	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	369						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						AAGCAGAGGACGCAAATGCAA	0.512			O	BRAF	pilocytic astrocytoma								T	138603265	C	T	138603265	2	4	11	1	0	0	0	0	0	0	0	1	8244	523	19	1		1	KIAA1549	7	138603265	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3301276	138603265	20535398	501	9340											
HIPK2	28996	broad.mit.edu	37	chr7	139416405	139416405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcctcgatgatctgcacGctgcttgtgttctcgatctc	9	13	3	1	rs113824554		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:139416405G>A	uc003vvf.3	-	2	603	c.429C>T	c.(427-429)AGC>AGT	p.S143S	HIPK2_uc003vvd.3_Silent_p.S143S	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	143	Transcriptional corepression (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					TGATCTGCACGCTGCTTGTGT	0.532													A	139416405	G	A	139416405	2	1	11	1	0	0	0	0	0	0	0	1	7117	1078	38	1		1	HIPK2	7	139416405	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	813140	139416405	19722258	502	9341											
EPHA1	2041	broad.mit.edu	37	chr7	143096842	143096842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagggctgcagtgcatgCggggtgcacctgagggcctg	17	11	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:143096842C>T	uc003wcz.2	-	4	824	c.737G>A	c.(736-738)CGC>CAC	p.R246H		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	246	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCAGTGCATGCGGGGTGCACC	0.667													T	143096842	C	T	143096842	3	4	11	1	0	0	0	0	1	0	0	0	5165	768	27	1	2253	1	EPHA1	7	143096842	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3680437	143096842	16041821	503	9342											
OR2F1	26211	broad.mit.edu	37	chr7	143657708	143657708	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acacccttctgcctggttctTttgtcctacatccagatcat	5	14	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:143657708T>G	uc003wds.1	+	1	689	c.645T>G	c.(643-645)CTT>CTG	p.L215L		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F,	215	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	Melanoma(164;0.0903)					GCCTGGTTCTTTTGTCCTACA	0.498													G	143657708	T	G	143657708	2	3	11	1	0	0	0	0	0	0	0	1	10996	1828	64	5		5	OR2F1	7	143657708	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	560866	143657708	15480955	504	9343											
OR2A2	442361	broad.mit.edu	37	chr7	143806951	143806951	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaccagaaaagaaccatctcCtttgttccatgcataatgca	5	11	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:143806951C>A	uc011ktz.1	+	1	276	c.276C>A	c.(274-276)TCC>TCA	p.S92S		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	92	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.0783)					GAACCATCTCCTTTGTTCCAT	0.423													A	143806951	C	A	143806951	2	1	11	1	0	0	0	0	0	0	0	1	10977	668	24	5		5	OR2A2	7	143806951	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	149243	143806951	15331712	505	9344											
ARHGEF5	7984	broad.mit.edu	37	chr7	144070331	144070331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccagagtatgcgacggaCagaggaactaatctacctga	11	9	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:144070331C>T	uc003wel.2	+	10	4212	c.4094C>T	c.(4093-4095)ACA>ATA	p.T1365I	ARHGEF5_uc003wek.2_Missense_Mutation_p.T1365I|ARHGEF5_uc003wem.2_Missense_Mutation_p.T220I	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	rho guanine nucleotide exchange factor 5	1365					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			skin(2)	2	Melanoma(164;0.14)					ATGCGACGGACAGAGGAACTA	0.517													T	144070331	C	T	144070331	3	4	11	1	0	0	0	0	1	0	0	0	909	478	17	4	4128	4	ARHGEF5	7	144070331	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	263380	144070331	15068332	506	9345											
EZH2	2146	broad.mit.edu	37	chr7	148507436	148507436	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaacataccattgttcaagTtgaacagaaagctgcacatg	8	8	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:148507436T>C	uc003wfd.1	-	17	2169	c.2003A>G	c.(2002-2004)AAC>AGC	p.N668S	EZH2_uc011kug.1_Missense_Mutation_p.N617S|EZH2_uc003wfb.1_Missense_Mutation_p.N673S|EZH2_uc003wfc.1_Missense_Mutation_p.N629S|EZH2_uc011kuh.1_Missense_Mutation_p.N659S	NM_004456	NP_004447	Q15910	EZH2_HUMAN	enhancer of zeste 2 isoform a	668	SET.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATTGTTCAAGTTGAACAGAAA	0.438			Mis		DLBCL								C	148507436	T	C	148507436	3	2	11	1	0	0	0	0	1	0	0	0	5334	1725	60	3	253	3	EZH2	7	148507436	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	4437105	148507436	10631227	507	9346											
ZNF398	57541	broad.mit.edu	37	chr7	148851131	148851131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacacctgcagacagcagCtatctctctgtggacagtgg	12	12	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:148851131C>T	uc003wfl.2	+	2	394	c.119C>T	c.(118-120)GCT>GTT	p.A40V	ZNF398_uc011kul.1_5'UTR|ZNF398_uc011kum.1_Missense_Mutation_p.A45V	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	zinc finger 398 isoform a	40					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CAGACAGCAGCTATCTCTCTG	0.587													T	148851131	C	T	148851131	3	4	11	1	0	0	0	0	1	0	0	0	17882	797	28	2	125	2	ZNF398	7	148851131	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	343695	148851131	10287532	508	9347											
ZNF282	8427	broad.mit.edu	37	chr7	148895815	148895815	+	Frame_Shift_Del	DEL	C	C	-													acttctgggtcctgcggctgCccccgggcagcaagggggag							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:148895814_148895814GC>G	uc003wfm.3	+	1	660	c.555_555GC>G	c.(553-555)ctgfs	p.L185fs	ZNF282_uc011kun.1_Frame_Shift_Del_p.L185fs|ZNF282_uc003wfn.3_Frame_Shift_Del_p.L125fs|ZNF282_uc003wfo.3_Frame_Shift_Del_p.L125fs	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	185					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		TCCTGCGGCTGCCCCCGGGCA	0.612													-	148895815	C	-	148895815	7	5	11	1	0	1	0	1	0	0	0	0	17816	739	26	0	562	0	ZNF282	7	148895815	Frame_Shift_Del	DEL	C	TCGA-BR-4256-01A-01D-1126-08	44684	148895815	10242848	509	9348											
ABP1	26	broad.mit.edu	37	chr7	150554063	150554063	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcagttcttcctcaatAccacaggcttctcattccaa	4	14	4	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:150554063A>G	uc003why.1	+	3	4723	c.505A>G	c.(505-507)ACC>GCC	p.T169A	ABP1_uc003whz.1_Missense_Mutation_p.T169A|ABP1_uc003wia.1_Missense_Mutation_p.T169A	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	169					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CTTCCTCAATACCACAGGCTT	0.602													G	150554063	A	G	150554063	3	3	11	1	0	0	0	0	1	0	0	0	98	391	14	3	507	3	ABP1	7	150554063	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	1658248	150554063	8584600	510	9349											
ABP1	26	broad.mit.edu	37	chr7	150554734	150554734	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccggcatcgactgcccGgagaccgccaccttcctgga	11	19	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:150554734G>A	uc003why.1	+	3	5394	c.1176G>A	c.(1174-1176)CCG>CCA	p.P392P	ABP1_uc003whz.1_Silent_p.P392P|ABP1_uc003wia.1_Silent_p.P392P	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	392					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	TCGACTGCCCGGAGACCGCCA	0.607													A	150554734	G	A	150554734	2	1	11	1	0	0	0	0	0	0	0	1	98	1103	39	1		1	ABP1	7	150554734	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	671	150554734	8583929	511	9350											
MLL3	58508	broad.mit.edu	37	chr7	151860524	151860524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaaattctacccgaggtgGtggtccactctgtggatttg	11	9	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:151860524G>A	uc003wla.2	-	43	10357	c.10138C>T	c.(10138-10140)CCA>TCA	p.P3380S	MLL3_uc003wkz.2_Missense_Mutation_p.P2441S|MLL3_uc003wky.2_Missense_Mutation_p.P889S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3380	Gln-rich.|Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACCCGAGGTGGTGGTCCACTC	0.458			N		medulloblastoma								A	151860524	G	A	151860524	3	1	11	1	0	0	0	0	1	0	0	0	9622	1261	44	4	4665	4	MLL3	7	151860524	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1305790	151860524	7278139	512	9351											
MLL3	58508	broad.mit.edu	37	chr7	151962206	151962206	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctatatccaggcacattccAtgatagtgctgaccacaagt	8	11	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:151962206A>G	uc003wla.2	-	8	1320	c.1101T>C	c.(1099-1101)CAT>CAC	p.H367H		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	367	PHD-type 1.|RING-type.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGCACATTCCATGATAGTGCT	0.443			N		medulloblastoma								G	151962206	A	G	151962206	2	3	11	1	0	0	0	0	0	0	0	1	9622	214	8	3		3	MLL3	7	151962206	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	101682	151962206	7176457	513	9352											
CSMD1	64478	broad.mit.edu	37	chr8	2820754	2820754	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaacttacggagacactgGgggatctctcctttccacac	9	12	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:2820754G>A	uc011kwk.1	-	60	9837	c.9447C>T	c.(9445-9447)CCC>CCT	p.P3149P	CSMD1_uc011kwj.1_Silent_p.P2478P|CSMD1_uc010lrg.2_Silent_p.P1040P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3149	Sushi 25.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGAGACACTGGGGGATCTCTC	0.552													A	2820754	G	A	2820754	2	1	11	1	0	0	0	0	0	0	0	1	3944	1219	43	4		4	CSMD1	8	2820754	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08		2820754	143543268	514	9353											
CSMD1	64478	broad.mit.edu	37	chr8	2830689	2830689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccattgagcaaacacgtgCgttcaggggagcccctcagc	11	14	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:2830689C>T	uc011kwk.1	-	57	9266	c.8876G>A	c.(8875-8877)CGC>CAC	p.R2959H	CSMD1_uc011kwj.1_Missense_Mutation_p.R2288H|CSMD1_uc010lrg.2_Missense_Mutation_p.R969H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2959	Extracellular (Potential).|Sushi 22.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAAACACGTGCGTTCAGGGGA	0.542													T	2830689	C	T	2830689	3	4	11	1	0	0	0	0	1	0	0	0	3944	768	27	1	1877	1	CSMD1	8	2830689	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	9935	2830689	143533333	515	9354											
MCPH1	79648	broad.mit.edu	37	chr8	6338243	6338243	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgatttgacagaaagcagaAtgtcgtcatccaggttgtgg	12	8	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:6338243A>G	uc003wqi.2	+	11	2050	c.1982A>G	c.(1981-1983)AAT>AGT	p.N661S		NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	661	BRCT 2.					microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AGAAAGCAGAATGTCGTCATC	0.423													G	6338243	A	G	6338243	3	3	11	1	0	0	0	0	1	0	0	0	9398	101	4	3	2032	3	MCPH1	8	6338243	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	3507554	6338243	140025779	516	9355											
XKR6	286046	broad.mit.edu	37	chr8	10755778	10755778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcgtaacctgggtccccCggtacccagggatctcaggc	14	14	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:10755778C>T	uc003wtk.1	-	3	1637	c.1610G>A	c.(1609-1611)CGG>CAG	p.R537Q		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	537						integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CTGGGTCCCCCGGTACCCAGG	0.617													T	10755778	C	T	10755778	3	4	11	1	0	0	0	0	1	0	0	0	17432	652	23	1	319	1	XKR6	8	10755778	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	4417535	10755778	135608244	517	9356											
GATA4	2626	broad.mit.edu	37	chr8	11614510	11614510	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caactccagcaacgccaccaCcagcagcagcgaggagatgc	10	16	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:11614510C>G	uc003wuc.2	+	6	1618	c.1064C>G	c.(1063-1065)ACC>AGC	p.T355S	GATA4_uc003wub.1_Missense_Mutation_p.T149S|GATA4_uc011kxc.1_Missense_Mutation_p.T356S	NM_002052	NP_002043	P43694	GATA4_HUMAN	GATA binding protein 4	355					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		AACGCCACCACCAGCAGCAGC	0.622													G	11614510	C	G	11614510	3	3	11	1	0	0	0	0	1	0	0	0	6256	507	18	5	1082	5	GATA4	8	11614510	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	858732	11614510	134749512	518	9357											
NEIL2	252969	broad.mit.edu	37	chr8	11637250	11637250	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtcggggagcccagcggGcagaagacccttgatggatc	16	11	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:11637250G>A	uc003wug.2	+	3	957	c.282G>A	c.(280-282)GGG>GGA	p.G94G	NEIL2_uc003wue.2_Silent_p.G94G|NEIL2_uc003wuf.2_Silent_p.G33G|NEIL2_uc011kxd.1_Intron	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	nei like 2 isoform a	94					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding				0	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		AGCCCAGCGGGCAGAAGACCC	0.612								BER_DNA_glycosylases					A	11637250	G	A	11637250	2	1	11	1	0	0	0	0	0	0	0	1	10319	1190	42	2		2	NEIL2	8	11637250	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	22740	11637250	134726772	519	9358											
C8orf79	57604	broad.mit.edu	37	chr8	12878931	12878931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacattaggaaaatcgtttcGttcctggtttttctccagat	7	9	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:12878931G>A	uc010lsq.2	+	5	1235	c.743G>A	c.(742-744)CGT>CAT	p.R248H	C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Missense_Mutation_p.R161H|C8orf79_uc010lsr.2_Missense_Mutation_p.R122H	NM_020844	NP_065895	Q9P272	K1456_HUMAN	hypothetical protein LOC57604 isoform 1	248							methyltransferase activity				0						AAATCGTTTCGTTCCTGGTTT	0.413													A	12878931	G	A	12878931	3	1	11	1	0	0	0	0	1	0	0	0	2438	1145	40	1	753	1	C8orf79	8	12878931	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1241681	12878931	133485091	520	9359											
STC1	6781	broad.mit.edu	37	chr8	23709885	23709885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagagcactgttgaggcaaCgaaccacttcagctgaaaga	11	9	1	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:23709885C>T	uc003xdw.1	-	2	415	c.131G>A	c.(130-132)CGT>CAT	p.R44H		NM_003155	NP_003146	P52823	STC1_HUMAN	stanniocalcin 1 precursor	44					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	p.R44C(1)		skin(3)|upper_aerodigestive_tract(1)	4		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GTTGAGGCAACGAACCACTTC	0.502													T	23709885	C	T	23709885	3	4	11	1	0	0	0	0	1	0	0	0	15274	536	19	1	624	1	STC1	8	23709885	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	10830954	23709885	122654137	521	9360											
FZD3	7976	broad.mit.edu	37	chr8	28413394	28413394	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatgcttcttcaactcagCtggctatggtggatgatcaa	9	11	4	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:28413394C>T	uc003xgx.2	+	7	2171	c.1693C>T	c.(1693-1695)CTG>TTG	p.L565L	FZD3_uc010lvb.2_Silent_p.L565L	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3 precursor	565	Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TTCAACTCAGCTGGCTATGGT	0.493													T	28413394	C	T	28413394	2	4	11	1	0	0	0	0	0	0	0	1	6131	796	28	2		2	FZD3	8	28413394	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	4703509	28413394	117950628	522	9361											
C8orf41	80185	broad.mit.edu	37	chr8	33367337	33367337	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgatagtcatctgaaatgAccaatgatgcgggaagtacc	10	8	3	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:33367337A>G	uc003xjl.3	-	2	1286	c.761T>C	c.(760-762)GTC>GCC	p.V254A	C8orf41_uc003xjk.3_Missense_Mutation_p.V254A|C8orf41_uc010lvv.2_Missense_Mutation_p.V254A|C8orf41_uc003xjm.3_Missense_Mutation_p.V254A|C8orf41_uc003xjn.1_Missense_Mutation_p.V254A	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	hypothetical protein LOC80185	254							binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		ATCTGAAATGACCAATGATGC	0.473													G	33367337	A	G	33367337	3	3	11	1	0	0	0	0	1	0	0	0	2427	275	10	3	789	3	C8orf41	8	33367337	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	4953943	33367337	112996685	523	9362											
WHSC1L1	54904	broad.mit.edu	37	chr8	38139077	38139077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcatcaattaattcacCgacgtattcatttacaaatt	2	9	5	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:38139077C>T	uc003xli.2	-	20	4044	c.3526G>A	c.(3526-3528)GGT>AGT	p.G1176S	WHSC1L1_uc011lbm.1_Missense_Mutation_p.G1176S|WHSC1L1_uc010lwe.2_Missense_Mutation_p.G1127S|WHSC1L1_uc003xlh.2_5'Flank	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	1176	SET.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			ATTAATTCACCGACGTATTCA	0.323			T	NUP98	AML								T	38139077	C	T	38139077	3	4	11	1	0	0	0	0	1	0	0	0	17360	652	23	1	807	1	WHSC1L1	8	38139077	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	4771740	38139077	108224945	524	9363											
ANK1	286	broad.mit.edu	37	chr8	41525866	41525866	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccggtccctgtcggcctgGgagctctcagcctcgggctg	14	16	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:41525866G>T	uc003xok.2	-	39	5397	c.5313C>A	c.(5311-5313)TCC>TCA	p.S1771S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Silent_p.S925S|ANK1_uc003xoi.2_Silent_p.S1771S|ANK1_uc003xoj.2_Silent_p.S1771S|ANK1_uc003xol.2_Silent_p.S1609S|ANK1_uc003xom.2_Silent_p.S1812S	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1771	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGTCGGCCTGGGAGCTCTCAG	0.617													T	41525866	G	T	41525866	2	4	11	1	0	0	0	0	0	0	0	1	620	1219	43	5		5	ANK1	8	41525866	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3386789	41525866	104838156	525	9364											
SGK196	84197	broad.mit.edu	37	chr8	42958705	42958705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcaacatggaaaagcagcCccagaacagcaggagaggcc	12	12	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:42958705C>T	uc003xpw.2	+	4	273	c.14C>T	c.(13-15)CCC>CTC	p.P5L		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	protein kinase-like protein SgK196	5						integral to membrane	ATP binding|protein kinase activity				0						GAAAAGCAGCCCCAGAACAGC	0.512													T	42958705	C	T	42958705	3	4	11	1	0	0	0	0	1	0	0	0	14208	623	22	4	16	4	SGK196	8	42958705	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1432839	42958705	103405317	526	9365											
PRKDC	5591	broad.mit.edu	37	chr8	48706944	48706944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggataaacaatagcctgcGggtagttatcagtgatttct	11	6	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:48706944G>A	uc003xqi.2	-	75	10634	c.10577C>T	c.(10576-10578)CCG>CTG	p.P3526L	PRKDC_uc003xqj.2_Missense_Mutation_p.P3526L|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3526	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AATAGCCTGCGGGTAGTTATC	0.458								NHEJ					A	48706944	G	A	48706944	3	1	11	1	0	0	0	0	1	0	0	0	12521	1116	39	1	1861	1	PRKDC	8	48706944	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	5748239	48706944	97657078	527	9366											
ATP6V1H	51606	broad.mit.edu	37	chr8	54730032	54730032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcagaaagtagggccacGcagtgttcttgctacatctt	11	9	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:54730032G>A	uc003xrl.2	-	5	517	c.365C>T	c.(364-366)GCG>GTG	p.A122V	ATP6V1H_uc003xrk.2_Missense_Mutation_p.A82V|ATP6V1H_uc003xrm.2_Missense_Mutation_p.A122V|ATP6V1H_uc003xrn.2_Missense_Mutation_p.A122V|ATP6V1H_uc011ldv.1_Missense_Mutation_p.A42V|ATP6V1H_uc010lyd.2_Missense_Mutation_p.A58V	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	122					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			GTAGGGCCACGCAGTGTTCTT	0.338													A	54730032	G	A	54730032	3	1	11	1	0	0	0	0	1	0	0	0	1189	1087	38	1	1126	1	ATP6V1H	8	54730032	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	6023088	54730032	91633990	528	9367											
SOX17	64321	broad.mit.edu	37	chr8	55372486	55372486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaatctccccgacagccaCggggccatttcctcggtggt	12	14	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:55372486C>T	uc003xsb.3	+	2	1380	c.1176C>T	c.(1174-1176)CAC>CAT	p.H392H		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	392	Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CCGACAGCCACGGGGCCATTT	0.607													T	55372486	C	T	55372486	2	4	11	1	0	0	0	0	0	0	0	1	14947	535	19	1		1	SOX17	8	55372486	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	642454	55372486	90991536	529	9368											
RP1	6101	broad.mit.edu	37	chr8	55540063	55540063	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagacatggttccaatagaTctttctgcaaattgttccac	6	10	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:55540063T>C	uc003xsd.1	+	4	3769	c.3621T>C	c.(3619-3621)GAT>GAC	p.D1207D	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1207					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTCCAATAGATCTTTCTGCAA	0.428													C	55540063	T	C	55540063	2	2	11	1	0	0	0	0	0	0	0	1	13532	1432	50	3		3	RP1	8	55540063	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	167577	55540063	90823959	530	9369											
CYP7A1	1581	broad.mit.edu	37	chr8	59404099	59404099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcaaaatgcccaagcctgCccgggactggtccaaaggtg	13	13	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:59404099C>T	uc003xtm.3	-	6	1513	c.1450G>A	c.(1450-1452)GCA>ACA	p.A484T		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	484					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CCCAAGCCTGCCCGGGACTGG	0.383									Neonatal_Giant_Cell_Hepatitis				T	59404099	C	T	59404099	3	4	11	1	0	0	0	0	1	0	0	0	4196	739	26	2	68	2	CYP7A1	8	59404099	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3864036	59404099	86959923	531	9370											
CHD7	55636	broad.mit.edu	37	chr8	61743037	61743037	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatccttgagaagaatttcAcatttctttccaaaggcggt	7	10	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:61743037A>G	uc003xue.2	+	15	4156	c.3679A>G	c.(3679-3681)ACA>GCA	p.T1227A		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1227					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAAGAATTTCACATTTCTTTC	0.393													G	61743037	A	G	61743037	3	3	11	1	0	0	0	0	1	0	0	0	3330	159	6	3	3733	3	CHD7	8	61743037	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	2338938	61743037	84620985	532	9371											
ARMC1	55156	broad.mit.edu	37	chr8	66517566	66517566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgatgctattgctgatgCcaaagcctaagccaagataa	10	8	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:66517566C>T	uc003xvl.2	-	6	824	c.589G>A	c.(589-591)GCA>ACA	p.A197T	ARMC1_uc011leo.1_Missense_Mutation_p.A95T	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	armadillo repeat-containing protein	197					metal ion transport		metal ion binding			skin(1)	1			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			ATTGCTGATGCCAAAGCCTAA	0.333													T	66517566	C	T	66517566	3	4	11	1	0	0	0	0	1	0	0	0	949	739	26	2	267	2	ARMC1	8	66517566	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	4774529	66517566	79846456	533	9372											
ADHFE1	137872	broad.mit.edu	37	chr8	67364208	67364208	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatgccctggagtcatacaCcaccctgccctaccacctgc	6	20	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:67364208C>A	uc003xwb.3	+	9	789	c.755C>A	c.(754-756)ACC>AAC	p.T252N	ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.T204N|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_RNA|ADHFE1_uc011les.1_Missense_Mutation_p.T182N|ADHFE1_uc011leq.1_RNA|ADHFE1_uc011ler.1_RNA	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	252					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GAGTCATACACCACCCTGCCC	0.522													A	67364208	C	A	67364208	3	1	11	1	0	0	0	0	1	0	0	0	314	507	18	5	789	5	ADHFE1	8	67364208	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	846642	67364208	78999814	534	9373											
PREX2	80243	broad.mit.edu	37	chr8	69104648	69104648	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatccaagcgcacagctgccTgtgcaaacacagcttgcagt	10	13	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:69104648T>C	uc003xxv.1	+	37	4519	c.4492T>C	c.(4492-4494)TGT>CGT	p.C1498R		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1498					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CACAGCTGCCTGTGCAAACAC	0.527													C	69104648	T	C	69104648	3	2	11	1	0	0	0	0	1	0	0	0	12477	1580	55	3	4867	3	PREX2	8	69104648	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	1740440	69104648	77259374	535	9374											
TRAM1	23471	broad.mit.edu	37	chr8	71495964	71495964	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaggccaaaaccaacagTcagtactgaaagaattaaag	8	8	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:71495964T>A	uc003xyo.1	-	9	981	c.811A>T	c.(811-813)ACT>TCT	p.T271S	TRAM1_uc011lfc.1_Missense_Mutation_p.T240S	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	271	Helical; (Potential).|TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			ovary(1)	1			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AAACCAACAGTCAGTACTGAA	0.373													A	71495964	T	A	71495964	3	1	11	1	0	0	0	0	1	0	0	0	16448	1667	58	5	325	5	TRAM1	8	71495964	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	2391316	71495964	74868058	536	9375											
KCNB2	9312	broad.mit.edu	37	chr8	73849496	73849496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagatgaagttcccaaccGacctcccagggacagaagag	11	12	0	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:73849496G>A	uc003xzb.2	+	3	2494	c.1906G>A	c.(1906-1908)GAC>AAC	p.D636N		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	636	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			GTTCCCAACCGACCTCCCAGG	0.597													A	73849496	G	A	73849496	3	1	11	1	0	0	0	0	1	0	0	0	8013	1058	37	1	1912	1	KCNB2	8	73849496	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2353532	73849496	72514526	537	9376											
ZFHX4	79776	broad.mit.edu	37	chr8	77617547	77617548	+	Frame_Shift_Ins	INS	-	-	G													caaaggctgaagtgaatctgINSggggggctgtctagtttagt					rs13252403		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:77617546_77617547T>TG	uc003yau.2	+	1	1610_1611	c.1223_1224T>TG	c.(1222-1224)ctgfs	p.L408fs	ZFHX4_uc003yat.1_Frame_Shift_Ins_p.L408fs|ZFHX4_uc003yaw.1_Frame_Shift_Ins_p.L408fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	408						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAGTGAATCTGGGGGGGCTGT	0.535										HNSCC(33;0.089)			G	77617548	-	G	77617547	7	5	11	1	0	1	1	0	0	0	0	0	17632	1335	47	0	1226	0	ZFHX4	8	77617547	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	3768051	77617547	68746475	538	9377											
ZFHX4	79776	broad.mit.edu	37	chr8	77767139	77767139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatacacgagcgcgggagaGgaaaggccagttccgggcgg	18	9	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:77767139G>A	uc003yav.2	+	10	8234	c.7847G>A	c.(7846-7848)AGG>AAG	p.R2616K	ZFHX4_uc003yau.1_Missense_Mutation_p.R2661K|ZFHX4_uc003yaw.1_Missense_Mutation_p.R2616K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2616	Homeobox 3.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCGCGGGAGAGGAAAGGCCAG	0.522										HNSCC(33;0.089)			A	77767139	G	A	77767139	3	1	11	1	0	0	0	0	1	0	0	0	17632	1000	35	4	8016	4	ZFHX4	8	77767139	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	149592	77767139	68596883	539	9378											
CNBD1	168975	broad.mit.edu	37	chr8	87951921	87951921	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcacatggtggccatattTtatatagaccaaaaagagcc	9	8	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:87951921T>G	uc003ydy.2	+	4	418	c.370T>G	c.(370-372)TTA>GTA	p.L124V		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	124										ovary(3)	3						TGGCCATATTTTATATAGACC	0.338													G	87951921	T	G	87951921	3	3	11	1	0	0	0	0	1	0	0	0	3591	1838	64	5	384	5	CNBD1	8	87951921	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	10184782	87951921	58412101	540	9379											
NBN	4683	broad.mit.edu	37	chr8	90990491	90990491	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttggactcaactgctttcaGgaattcagtaaaatattctg	7	8	4	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:90990491G>T	uc003yej.1	-	5	651	c.541C>A	c.(541-543)CTG>ATG	p.L181M	NBN_uc003yei.1_Missense_Mutation_p.L99M|NBN_uc011lgb.1_Missense_Mutation_p.L181M	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	181	BRCT.				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ACTGCTTTCAGGAATTCAGTA	0.313								Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome				T	90990491	G	T	90990491	3	4	11	1	0	0	0	0	1	0	0	0	10191	991	35	5	1771	5	NBN	8	90990491	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3038570	90990491	55373531	541	9380											
RUNX1T1	862	broad.mit.edu	37	chr8	92998448	92998448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcggcgtcactgtaccGccggatccagtaattcaatt	9	13	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:92998448G>A	uc003yfd.2	-	8	1267	c.1183C>T	c.(1183-1185)CGG>TGG	p.R395W	RUNX1T1_uc003yfc.1_Missense_Mutation_p.R368W|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R358W|RUNX1T1_uc010mao.2_Missense_Mutation_p.R368W|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R406W|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R358W	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	395			R -> W (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	p.R358W(1)		lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCACTGTACCGCCGGATCCAG	0.512													A	92998448	G	A	92998448	3	1	11	1	0	0	0	0	1	0	0	0	13747	1086	38	1	647	1	RUNX1T1	8	92998448	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2007957	92998448	53365574	542	9381											
TSPYL5	85453	broad.mit.edu	37	chr8	98289167	98289167	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaccttattttggaaataCgggttgcgatcgaagtagaa	11	6	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:98289167C>T	uc003yhy.2	-	1	1010	c.906G>A	c.(904-906)CCG>CCA	p.P302P		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	302					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)					TTTGGAAATACGGGTTGCGAT	0.488													T	98289167	C	T	98289167	2	4	11	1	0	0	0	0	0	0	0	1	16659	523	19	1		1	TSPYL5	8	98289167	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	5290719	98289167	48074855	543	9382											
KCNS2	3788	broad.mit.edu	37	chr8	99441361	99441361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgtggtcccagggaccaCggcaggaaagctgactgcct	15	11	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:99441361C>T	uc003yin.2	+	2	1504	c.1154C>T	c.(1153-1155)ACG>ATG	p.T385M		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	385	Extracellular (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CCAGGGACCACGGCAGGAAAG	0.597													T	99441361	C	T	99441361	3	4	11	1	0	0	0	0	1	0	0	0	8089	536	19	1	1156	1	KCNS2	8	99441361	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1152194	99441361	46922661	544	9383											
VPS13B	157680	broad.mit.edu	37	chr8	100147902	100147902	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaattcattgtttgattacCgaagcccagaaaataatggt	7	7	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:100147902C>T	uc003yiv.2	+	11	1615	c.1504C>T	c.(1504-1506)CGA>TGA	p.R502*	VPS13B_uc003yiw.2_Nonsense_Mutation_p.R502*|VPS13B_uc003yit.2_Nonsense_Mutation_p.R502*|VPS13B_uc003yiu.1_Nonsense_Mutation_p.R502*|VPS13B_uc003yix.1_5'Flank	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	502					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTTTGATTACCGAAGCCCAGA	0.338													T	100147902	C	T	100147902	4	4	11	1	0	0	0	0	0	1	0	0	17187	644	23	1	1584	1	VPS13B	8	100147902	Nonsense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	706541	100147902	46216120	545	9384											
RGS22	26166	broad.mit.edu	37	chr8	101065081	101065081	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgggtcttaatggcaagagGgttgccatttgtggaaaagg	15	4	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:101065081G>T	uc003yjb.1	-	10	1833	c.1638C>A	c.(1636-1638)ACC>ACA	p.T546T	RGS22_uc003yja.1_Silent_p.T365T|RGS22_uc003yjc.1_Silent_p.T534T|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	546					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATGGCAAGAGGGTTGCCATTT	0.418													T	101065081	G	T	101065081	2	4	11	1	0	0	0	0	0	0	0	1	13305	1219	43	5		5	RGS22	8	101065081	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	917179	101065081	45298941	546	9385											
UBR5	51366	broad.mit.edu	37	chr8	103293613	103293613	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacatatgccacatgcttcAatgagcaaacatccaaaact	4	11	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:103293613A>G	uc003ykr.1	-	41	5864	c.5831T>C	c.(5830-5832)TTG>TCG	p.L1944S	UBR5_uc003yks.1_Missense_Mutation_p.L1944S	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1944					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CACATGCTTCAATGAGCAAAC	0.393													G	103293613	A	G	103293613	3	3	11	1	0	0	0	0	1	0	0	0	16902	131	5	3	2644	3	UBR5	8	103293613	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	2228532	103293613	43070409	547	9386											
ODF1	4956	broad.mit.edu	37	chr8	103572812	103572812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggaaaggtatgtgtgtcGgctgagcgggagaacaggta	18	4	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:103572812G>A	uc003ykt.2	+	2	561	c.453G>A	c.(451-453)TCG>TCA	p.S151S		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	151					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			ovary(2)	2	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			TATGTGTGTCGGCTGAGCGGG	0.488													A	103572812	G	A	103572812	2	1	11	1	0	0	0	0	0	0	0	1	10826	1103	39	1		1	ODF1	8	103572812	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	279199	103572812	42791210	548	9387											
ZFPM2	23414	broad.mit.edu	37	chr8	106813750	106813750	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctctagcccaagacttgcCtcatctccagttcagcctaa	5	17	4	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:106813750C>A	uc003ymd.2	+	8	1463	c.1440C>A	c.(1438-1440)GCC>GCA	p.A480A	ZFPM2_uc011lhs.1_Silent_p.A211A	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	480					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAAGACTTGCCTCATCTCCAG	0.448													A	106813750	C	A	106813750	2	1	11	1	0	0	0	0	0	0	0	1	17655	668	24	5		5	ZFPM2	8	106813750	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3240938	106813750	39550272	549	9388											
EIF3E	3646	broad.mit.edu	37	chr8	109215314	109215314	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcacttgctgatagggTgagactgcattgttacccat	9	9	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:109215314T>C	uc003ymu.2	-	12	1225	c.1197A>G	c.(1195-1197)TCA>TCG	p.S399S	EIF3E_uc003ymt.2_Silent_p.S350S|EIF3E_uc003ymv.2_Silent_p.S306S	NM_001568	NP_001559	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3,	399	Sufficient for interaction with MCM7.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding			ovary(2)|kidney(1)	3			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			GCTGATAGGGTGAGACTGCAT	0.388													C	109215314	T	C	109215314	2	2	11	1	0	0	0	0	0	0	0	1	5015	1683	59	3		3	EIF3E	8	109215314	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	2401564	109215314	37148708	550	9389											
TRHR	7201	broad.mit.edu	37	chr8	110100047	110100047	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttggatgcctctgcattacTtacctccagtatttgggaat	9	9	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:110100047T>G	uc003ymz.3	+	1	322	c.306T>G	c.(304-306)ACT>ACG	p.T102T		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	102	Helical; Name=3; (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity			skin(2)|lung(1)	3			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TCTGCATTACTTACCTCCAGT	0.468													G	110100047	T	G	110100047	2	3	11	1	0	0	0	0	0	0	0	1	16477	1596	56	5		5	TRHR	8	110100047	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	884733	110100047	36263975	551	9390											
PKHD1L1	93035	broad.mit.edu	37	chr8	110476610	110476610	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttctggttgagaggaatAttatatatgatattaaggga	10	2	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:110476610A>G	uc003yne.2	+	49	7653	c.7549A>G	c.(7549-7551)ATT>GTT	p.I2517V		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2517	PbH1 1.|Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGAGAGGAATATTATATATGA	0.358										HNSCC(38;0.096)			G	110476610	A	G	110476610	3	3	11	1	0	0	0	0	1	0	0	0	11972	449	16	3	7743	3	PKHD1L1	8	110476610	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	376563	110476610	35887412	552	9391											
CSMD3	114788	broad.mit.edu	37	chr8	113267597	113267597	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacctctgactggtataTaaagcttttgccttctcttt	6	9	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:113267597T>C	uc003ynu.2	-	62	10081	c.9922A>G	c.(9922-9924)ATA>GTA	p.I3308V	CSMD3_uc003yns.2_Missense_Mutation_p.I2510V|CSMD3_uc003ynt.2_Missense_Mutation_p.I3268V|CSMD3_uc011lhx.1_Missense_Mutation_p.I3139V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3308	Extracellular (Potential).|Sushi 26.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GACTGGTATATAAAGCTTTTG	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113267597	T	C	113267597	3	2	11	1	0	0	0	0	1	0	0	0	3946	1406	49	3	1241	3	CSMD3	8	113267597	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	2790987	113267597	33096425	553	9392											
EXT1	2131	broad.mit.edu	37	chr8	118819472	118819472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacttgtggtaaatagcagCtcctgtcaacaccatggagt	9	10	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:118819472C>T	uc003yok.1	-	9	2640	c.1867G>A	c.(1867-1869)GCT>ACT	p.A623T		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	623	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TAAATAGCAGCTCCTGTCAAC	0.473			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				T	118819472	C	T	118819472	3	4	11	1	0	0	0	0	1	0	0	0	5323	797	28	2	385	2	EXT1	8	118819472	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	5551875	118819472	27544550	554	9393											
NOV	4856	broad.mit.edu	37	chr8	120435303	120435303	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacctgcacctgtcacacCaactgtcctaagaacaatga	8	13	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:120435303C>T	uc003yoq.2	+	5	1226	c.1005C>T	c.(1003-1005)ACC>ACT	p.T335T		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	335	CTCK.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTGTCACACCAACTGTCCTA	0.512													T	120435303	C	T	120435303	2	4	11	1	0	0	0	0	0	0	0	1	10553	581	21	4		4	NOV	8	120435303	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1615831	120435303	25928719	555	9394											
ZHX1	11244	broad.mit.edu	37	chr8	124267603	124267603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttatgatgaactgcaatcCgtttattttccactttattt	5	7	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:124267603C>T	uc003yqe.2	-	3	1014	c.584G>A	c.(583-585)CGG>CAG	p.R195Q	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.R195Q|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.R195Q	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	195					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AACTGCAATCCGTTTATTTTC	0.353													T	124267603	C	T	124267603	3	4	11	1	0	0	0	0	1	0	0	0	17672	652	23	1	2041	1	ZHX1	8	124267603	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3832300	124267603	22096419	556	9395											
TRIB1	10221	broad.mit.edu	37	chr8	126448362	126448362	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccctgagatcctcaacacCactgggacctactccggaaa	8	15	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:126448362C>A	uc003yrx.2	+	3	1350	c.768C>A	c.(766-768)ACC>ACA	p.T256T	TRIB1_uc011lis.1_Silent_p.T90T|TRIB1_uc010mdn.2_Silent_p.T25T	NM_025195	NP_079471	Q96RU8	TRIB1_HUMAN	G-protein-coupled receptor induced protein	256	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			lung(1)	1	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TCCTCAACACCACTGGGACCT	0.537													A	126448362	C	A	126448362	2	1	11	1	0	0	0	0	0	0	0	1	16479	581	21	5		5	TRIB1	8	126448362	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2180759	126448362	19915660	557	9396											
KCNQ3	3786	broad.mit.edu	37	chr8	133146585	133146585	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgctgaccctttctgagacTtcttgtgttttggcgtggag	12	8	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:133146585T>G	uc003ytj.2	-	13	1976	c.1751A>C	c.(1750-1752)AAG>ACG	p.K584T	KCNQ3_uc010mdt.2_Missense_Mutation_p.K584T	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	584					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTTCTGAGACTTCTTGTGTTT	0.483													G	133146585	T	G	133146585	3	3	11	1	0	0	0	0	1	0	0	0	8084	1609	56	5	879	5	KCNQ3	8	133146585	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	6698223	133146585	13217437	558	9397											
FAM135B	51059	broad.mit.edu	37	chr8	139153505	139153505	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccagagagtgacaggaaCgtgtggagtttgttgaggta	17	5	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:139153505C>T	uc003yuy.2	-	17	3897	c.3726G>A	c.(3724-3726)ACG>ACA	p.T1242T	FAM135B_uc003yux.2_Silent_p.T1143T|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1242										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTGACAGGAACGTGTGGAGTT	0.507										HNSCC(54;0.14)			T	139153505	C	T	139153505	2	4	11	1	0	0	0	0	0	0	0	1	5449	523	19	1		1	FAM135B	8	139153505	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	6006920	139153505	7210517	559	9398											
PTK2	5747	broad.mit.edu	37	chr8	141803473	141803473	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttggtattgatggcaaagcCcgttcaccttctgcggggaa	12	9	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:141803473C>A	uc003yvu.2	-	13	1334	c.1104G>T	c.(1102-1104)CGG>CGT	p.R368R	PTK2_uc011ljq.1_Silent_p.R29R|PTK2_uc003yvp.2_Silent_p.R29R|PTK2_uc003yvq.2_5'UTR|PTK2_uc003yvr.2_Silent_p.R267R|PTK2_uc003yvs.2_Silent_p.R368R|PTK2_uc003yvt.2_Silent_p.R390R|PTK2_uc003yvv.2_Silent_p.R255R|PTK2_uc011ljr.1_Silent_p.R368R	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	368					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATGGCAAAGCCCGTTCACCTT	0.373													A	141803473	C	A	141803473	2	1	11	1	0	0	0	0	0	0	0	1	12762	610	22	5		5	PTK2	8	141803473	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2649968	141803473	4560549	560	9399											
ZFP41	286128	broad.mit.edu	37	chr8	144332457	144332457	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttcaaatgcggggagtgCgggaaagcctttaactgcgg	14	10	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:144332457C>T	uc003yxw.2	+	2	802	c.444C>T	c.(442-444)TGC>TGT	p.C148C	ZFP41_uc003yxv.2_RNA	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	zinc finger protein 41 homolog	148	C2H2-type 3.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCGGGGAGTGCGGGAAAGCCT	0.577													T	144332457	C	T	144332457	2	4	11	1	0	0	0	0	0	0	0	1	17646	776	27	1		1	ZFP41	8	144332457	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2528984	144332457	2031565	561	9400											
GRINA	2907	broad.mit.edu	37	chr8	145066937	145066937	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagagtatgtgtttgctgcGctgaacctgtacacagacat	11	8	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:145066937G>A	uc003zan.1	+	7	1210	c.1044G>A	c.(1042-1044)GCG>GCA	p.A348A	GRINA_uc003zao.1_Silent_p.A348A|GRINA_uc003zap.1_Silent_p.A348A	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl	348	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTTGCTGCGCTGAACCTGT	0.572													A	145066937	G	A	145066937	2	1	11	1	0	0	0	0	0	0	0	1	6785	1074	38	1		1	GRINA	8	145066937	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	734480	145066937	1297085	562	9401											
SPATC1	375686	broad.mit.edu	37	chr8	145095846	145095846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctgcctgtcccccactgtCctccacacaacgcccactcc	4	23	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:145095846C>T	uc011lkw.1	+	3	1246	c.1144C>T	c.(1144-1146)CCT>TCT	p.P382S	SPATC1_uc011lkx.1_Missense_Mutation_p.P382S	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	382										ovary(1)|central_nervous_system(1)	2	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCCACTGTCCTCCACACAA	0.612													T	145095846	C	T	145095846	3	4	11	1	0	0	0	0	1	0	0	0	15016	855	30	4	1154	4	SPATC1	8	145095846	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	28909	145095846	1268176	563	9402											
CPSF1	29894	broad.mit.edu	37	chr8	145623823	145623823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccatgatctcctgccccGtctgcaggatctgcgggcga	12	15	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:145623823G>A	uc003zcj.2	-	19	1838	c.1763C>T	c.(1762-1764)ACG>ATG	p.T588M		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	588					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTCCTGCCCCGTCTGCAGGAT	0.672													A	145623823	G	A	145623823	3	1	11	1	0	0	0	0	1	0	0	0	3824	1145	40	1	2648	1	CPSF1	8	145623823	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	527977	145623823	740199	564	9403											
FOXD4	2298	broad.mit.edu	37	chr9	117535	117535	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctggaaacgcttcctacgCcggagaaagctgccattgtc	11	13	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:117535C>T	uc003zfz.2	-	1	883	c.585G>A	c.(583-585)CGG>CGA	p.R195R		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	195	Fork-head.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCTTCCTACGCCGGAGAAAGC	0.687													T	117535	C	T	117535	2	4	11	1	0	0	0	0	0	0	0	1	5999	726	26	2		2	FOXD4	9	117535	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08		117535	141095896	565	9404											
GLDC	2731	broad.mit.edu	37	chr9	6604759	6604759	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagatgcacaaagctaaaAggtcagtagcacagcaggcc	10	10	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:6604759A>C	uc003zkc.2	-	7	1080	c.887T>G	c.(886-888)CTT>CGT	p.L296R		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	296					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CAAAGCTAAAAGGTCAGTAGC	0.522													C	6604759	A	C	6604759	3	2	11	1	0	0	0	0	1	0	0	0	6433	72	3	5	2251	5	GLDC	9	6604759	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	6487224	6604759	134608672	566	9405											
PTPRD	5789	broad.mit.edu	37	chr9	8319960	8319960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagactccagttcttccaacGcccgcgctgccacaataaca	6	16	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:8319960G>A	uc003zkk.2	-	44	6252	c.5541C>T	c.(5539-5541)GGC>GGT	p.G1847G	PTPRD_uc003zkp.2_Silent_p.G1441G|PTPRD_uc003zkq.2_Silent_p.G1440G|PTPRD_uc003zkr.2_Silent_p.G1431G|PTPRD_uc003zks.2_Silent_p.G1440G|PTPRD_uc003zkl.2_Silent_p.G1838G|PTPRD_uc003zkm.2_Silent_p.G1834G|PTPRD_uc003zkn.2_Silent_p.G1436G|PTPRD_uc003zko.2_Silent_p.G1437G	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1847	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCTTCCAACGCCCGCGCTGC	0.438										TSP Lung(15;0.13)			A	8319960	G	A	8319960	2	1	11	1	0	0	0	0	0	0	0	1	12799	1074	38	1		1	PTPRD	9	8319960	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1715201	8319960	132893471	567	9406											
KIAA1797	54914	broad.mit.edu	37	chr9	20988425	20988425	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcacaatacggctcttgaCaaggtaaaatctagaggagt	9	7	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:20988425C>T	uc003zog.1	+	43	5364	c.5001C>T	c.(4999-5001)GAC>GAT	p.D1667D	KIAA1797_uc003zoh.1_Silent_p.D1103D	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	1667						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		CGGCTCTTGACAAGGTAAAAT	0.284													T	20988425	C	T	20988425	2	4	11	1	0	0	0	0	0	0	0	1	8258	477	17	4		4	KIAA1797	9	20988425	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	12668465	20988425	120225006	568	9407											
C9orf131	138724	broad.mit.edu	37	chr9	35043650	35043650	+	Frame_Shift_Del	DEL	C	C	-													cttttgagcctccgatgccaCccccctgccaatccccagct							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:35043649_35043649AC>A	uc003zvw.3	+	1	1052	c.1023_1023AC>A	c.(1021-1023)ccafs	p.P341fs	C9orf131_uc003zvu.3_Frame_Shift_Del_p.P293fs|C9orf131_uc003zvv.3_Frame_Shift_Del_p.P268fs|C9orf131_uc003zvx.3_Frame_Shift_Del_p.P306fs	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	341										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCCGATGCCACCCCCCTGCC	0.527													-	35043650	C	-	35043650	7	5	11	1	0	1	0	1	0	0	0	0	2457	507	18	0	1046	0	C9orf131	9	35043650	Frame_Shift_Del	DEL	C	TCGA-BR-4256-01A-01D-1126-08	14055225	35043650	106169781	569	9408											
FANCG	2189	broad.mit.edu	37	chr9	35075485	35075485	+	Frame_Shift_Del	DEL	T	T	-													ctaaattcactaattgccacTttttgggcacccagttgaac							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:35075484_35075484CT>C	uc003zwb.1	-	9	1903	c.1411_1411AG>G	c.(1411-1413)gtgfs	p.V471fs	VCP_uc003zvy.2_5'Flank|VCP_uc010mkh.1_5'Flank|FANCG_uc010mkj.1_Frame_Shift_Del_p.V213fs|FANCG_uc011lot.1_Frame_Shift_Del_p.V471fs	NM_004629	NP_004620	O15287	FANCG_HUMAN	Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA.	471					DNA repair|cell cycle checkpoint|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	p.V471E(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTAATTGCCACTTTTTGGGCA	0.557			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks					-	35075485	T	-	35075485	7	5	11	1	0	1	0	1	0	0	0	0	5668	1606	56	0	478	0	FANCG	9	35075485	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	31835	35075485	106137946	570	9409											
TLN1	7094	broad.mit.edu	37	chr9	35706102	35706102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcttcctgggtgtgagCtgcttgctgtggggagagga	19	7	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:35706102C>T	uc003zxt.2	-	41	5722	c.5368G>A	c.(5368-5370)GCT>ACT	p.A1790T		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1790	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGGTGTGAGCTGCTTGCTGT	0.582													T	35706102	C	T	35706102	3	4	11	1	0	0	0	0	1	0	0	0	15944	797	28	2	2325	2	TLN1	9	35706102	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	630617	35706102	105507329	571	9410											
GNE	10020	broad.mit.edu	37	chr9	36227249	36227249	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaggagttattttaccttcAtgctgactattgcaactcgg	8	8	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:36227249A>G	uc010mlh.2	-	7	1492	c.1277T>C	c.(1276-1278)ATG>ACG	p.M426T	CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.M426T|GNE_uc011lpl.1_Missense_Mutation_p.M316T|GNE_uc010mli.2_Missense_Mutation_p.M457T|GNE_uc010mlj.2_Missense_Mutation_p.M421T	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	426	UDP-N-acetylglucosamine 2-epimerase.|N-acetylmannosamine kinase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0			STAD - Stomach adenocarcinoma(86;0.228)			TTTTACCTTCATGCTGACTAT	0.368													G	36227249	A	G	36227249	3	3	11	1	0	0	0	0	1	0	0	0	6522	217	8	3	915	3	GNE	9	36227249	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	521147	36227249	104986182	572	9411											
MAMDC2	256691	broad.mit.edu	37	chr9	72833435	72833435	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagacagtgaagagtccctcTtatggaggagaagaggtgaa	14	5	1	6			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:72833435T>G	uc004ahm.2	+	12	2451	c.1834T>G	c.(1834-1836)TTA>GTA	p.L612V	MAMDC2_uc004ahn.2_RNA|uc004ahq.1_Intron	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	MAM domain containing 2 precursor	612	MAM 4.					endoplasmic reticulum|membrane				central_nervous_system(1)|pancreas(1)	2						AGAGTCCCTCTTATGGAGGAG	0.468													G	72833435	T	G	72833435	3	3	11	1	0	0	0	0	1	0	0	0	9203	1606	56	5	1880	5	MAMDC2	9	72833435	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	36606186	72833435	68379996	573	9412											
ALDH1A1	216	broad.mit.edu	37	chr9	75545795	75545795	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcttggataatactcacCgccagcagcagacgatctct	8	14	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:75545795C>A	uc004ajd.2	-	3	365	c.312G>T	c.(310-312)GCG>GCT	p.A104A	ALDH1A1_uc011lsh.1_Silent_p.A25A	NM_000689	NP_000680	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1A1	104					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			ovary(3)|lung(1)	4					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TAATACTCACCGCCAGCAGCA	0.458													A	75545795	C	A	75545795	2	1	11	1	0	0	0	0	0	0	0	1	490	666	23	5		5	ALDH1A1	9	75545795	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2712360	75545795	65667636	574	9413											
PRUNE2	158471	broad.mit.edu	37	chr9	79323912	79323912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgcaaaagtgtgagttgtCggtttgtttcattgtacagt	12	4	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:79323912C>T	uc010mpk.2	-	8	3402	c.3278G>A	c.(3277-3279)CGA>CAA	p.R1093Q		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1093					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						TGTGAGTTGTCGGTTTGTTTC	0.512													T	79323912	C	T	79323912	3	4	11	1	0	0	0	0	1	0	0	0	12641	884	31	1	6036	1	PRUNE2	9	79323912	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3778117	79323912	61889519	575	9414											
VPS13A	23230	broad.mit.edu	37	chr9	79841516	79841516	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagatgttcaacctgaaagTatgtccatttcattttacag	6	9	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:79841516T>C	uc004akr.2	+	15	1617	c.1357_splice	c.e15+2	p.T453_splice	VPS13A_uc004akp.3_Splice_Site_p.T453_splice|VPS13A_uc004akq.3_Splice_Site_p.T453_splice|VPS13A_uc004aks.2_Splice_Site_p.T453_splice	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A						Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						AACCTGAAAGTATGTCCATTT	0.328													C	79841516	T	C	79841516	5	2	11	1	0	0	0	0	0	0	1	0	17186	1652	57	3	1417	3	VPS13A	9	79841516	Splice_Site	SNP	T	TCGA-BR-4256-01A-01D-1126-08	517604	79841516	61371915	576	9415											
FLJ46321	389763	broad.mit.edu	37	chr9	84607460	84607460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaactagagcaacacattcGaaggaggctcatccagcgca	10	11	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:84607460G>A	uc004amn.2	+	4	2122	c.2075G>A	c.(2074-2076)CGA>CAA	p.R692Q		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	692						integral to membrane					0						CAACACATTCGAAGGAGGCTC	0.493													A	84607460	G	A	84607460	3	1	11	1	0	0	0	0	1	0	0	0	5932	1058	37	1	2089	1	FLJ46321	9	84607460	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	4765944	84607460	56605971	577	9416											
RASEF	158158	broad.mit.edu	37	chr9	85607893	85607893	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagtgtcacgaatgtcAgccttgtttcctaccagcat	9	12	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:85607893A>T	uc004amo.1	-	15	2229	c.1968T>A	c.(1966-1968)GCT>GCA	p.A656A		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	656	GTP (By similarity).				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						CACGAATGTCAGCCTTGTTTC	0.473													T	85607893	A	T	85607893	2	4	11	1	0	0	0	0	0	0	0	1	13068	175	7	5		5	RASEF	9	85607893	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	1000433	85607893	55605538	578	9417											
RMI1	80010	broad.mit.edu	37	chr9	86616999	86616999	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aataacttttctttgacttgCaaaaatggaaacaataattg	5	5	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:86616999C>G	uc004anq.3	+	3	1506	c.1098C>G	c.(1096-1098)TGC>TGG	p.C366W	RMI1_uc004anr.3_Missense_Mutation_p.C366W|RMI1_uc004anp.3_Missense_Mutation_p.C366W|RMI1_uc004ans.3_Missense_Mutation_p.C366W	NM_024945	NP_079221	Q9H9A7	RMI1_HUMAN	RMI1, RecQ mediated genome instability 1,	366					DNA replication	nucleus					0						CTTTGACTTGCAAAAATGGAA	0.323													G	86616999	C	G	86616999	3	3	11	1	0	0	0	0	1	0	0	0	13395	718	25	5	1100	5	RMI1	9	86616999	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1009106	86616999	54596432	579	9418											
SEMA4D	10507	broad.mit.edu	37	chr9	92020286	92020286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtgctcccaggtgatcCggggtatgggtgcaaatgcc	14	11	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:92020286C>T	uc004aqo.1	-	5	658	c.86G>A	c.(85-87)CGG>CAG	p.R29Q	SEMA4D_uc011ltm.1_Missense_Mutation_p.R29Q|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.R27Q	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	29	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						CCAGGTGATCCGGGGTATGGG	0.617													T	92020286	C	T	92020286	3	4	11	1	0	0	0	0	1	0	0	0	14034	652	23	1	3128	1	SEMA4D	9	92020286	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	5403287	92020286	49193145	580	9419											
NOL8	55035	broad.mit.edu	37	chr9	95069255	95069255	+	Frame_Shift_Del	DEL	T	T	-													gtacaacattcagggctttcTttttttcttcagcaagctct							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:95069254_95069254CT>C	uc022bjx.1	-	10	3076	c.2739_2739AG>G	c.(2737-2739)aagfs	p.K913fs	NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Frame_Shift_Del_p.K845fs	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	913					DNA replication|positive regulation of cell growth	nucleolus	RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCAGGGCTTTCTTTTTTTCTT	0.343													-	95069255	T	-	95069255	7	5	11	1	0	1	0	1	0	0	0	0	10527	1609	56	0	793	0	NOL8	9	95069255	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	3048969	95069255	46144176	581	9420											
FBP2	8789	broad.mit.edu	37	chr9	97321299	97321299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accccagaatgagggggactCgctggtgaattgcctcgggc	15	11	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:97321299C>T	uc004auv.2	-	7	1008	c.941G>A	c.(940-942)CGA>CAA	p.R314Q	uc004aus.1_RNA|uc004aut.1_RNA|uc004auu.2_RNA	NM_003837	NP_003828	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	314					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding				0		Acute lymphoblastic leukemia(62;0.136)				GAGGGGGACTCGCTGGTGAAT	0.582													T	97321299	C	T	97321299	3	4	11	1	0	0	0	0	1	0	0	0	5706	884	31	1	82	1	FBP2	9	97321299	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2252044	97321299	43892132	582	9421											
FBP2	8789	broad.mit.edu	37	chr9	97355861	97355861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggccagaccggccttgcGcacagccgaggagatggctt	16	12	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:97355861G>A	uc004auv.2	-	1	215	c.148C>T	c.(148-150)CGC>TGC	p.R50C		NM_003837	NP_003828	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	50					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding				0		Acute lymphoblastic leukemia(62;0.136)				CCGGCCTTGCGCACAGCCGAG	0.642													A	97355861	G	A	97355861	3	1	11	1	0	0	0	0	1	0	0	0	5706	1087	38	1	899	1	FBP2	9	97355861	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	34562	97355861	43857570	583	9422											
CTSL2	1515	broad.mit.edu	37	chr9	99800233	99800233	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgtgtgttgccttccaCtggtaccactttgtatccaa	7	12	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:99800233C>T	uc004awt.2	-	2	290	c.93G>A	c.(91-93)CAG>CAA	p.Q31Q	CTSL2_uc010msi.2_Silent_p.Q31Q|CTSL2_uc004awu.2_Translation_Start_Site|CTSL2_uc010msj.1_Translation_Start_Site|CTSL2_uc010msk.2_Translation_Start_Site	NM_001333	NP_001324	O60911	CATL2_HUMAN	cathepsin L2 preproprotein	31						lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(62;0.0559)				TTGCCTTCCACTGGTACCACT	0.463													T	99800233	C	T	99800233	2	4	11	1	0	0	0	0	0	0	0	1	4039	564	20	4		4	CTSL2	9	99800233	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2444372	99800233	41413198	584	9423											
ALDOB	229	broad.mit.edu	37	chr9	104187169	104187169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggttgcctccttgtttgCagccttgccaccccaggcag	11	15	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:104187169C>T	uc004bbk.2	-	8	1037	c.955G>A	c.(955-957)GCA>ACA	p.A319T		NM_000035	NP_000026	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	319					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			skin(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TCCTTGTTTGCAGCCTTGCCA	0.527													T	104187169	C	T	104187169	3	4	11	1	0	0	0	0	1	0	0	0	508	710	25	2	147	2	ALDOB	9	104187169	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	4386936	104187169	37026262	585	9424											
ABCA1	19	broad.mit.edu	37	chr9	107593323	107593324	+	Frame_Shift_Ins	INS	-	-	C													atcctgcaagtaggcgaagcINSccccccagacgtaccgcatg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:107593322_107593323G>GC	uc004bcl.3	-	13	2179_2180	c.1775_1776C>GC	c.(1774-1776)ggcfs	p.G592fs		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	592					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTAGGCGAAGCCCCCCCAGAC	0.54													C	107593324	-	C	107593323	7	5	11	1	0	1	1	0	0	0	0	0	28	739	26	0	5158	0	ABCA1	9	107593323	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	3406154	107593323	33620108	586	9425											
EPB41L4B	54566	broad.mit.edu	37	chr9	112017804	112017804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccctacctgaatctgaagcGagagcccagcctgataaagt	9	12	1	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:112017804G>A	uc004bdz.1	-	11	1451	c.1156C>T	c.(1156-1158)CGC>TGC	p.R386C	EPB41L4B_uc004bea.2_Missense_Mutation_p.R386C	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	386						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						AATCTGAAGCGAGAGCCCAGC	0.453													A	112017804	G	A	112017804	3	1	11	1	0	0	0	0	1	0	0	0	5156	1058	37	1	1762	1	EPB41L4B	9	112017804	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	4424481	112017804	29195627	587	9426											
PTPN3	5774	broad.mit.edu	37	chr9	112144688	112144688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaccgtggtcaggccatgCgacgtactggagatgtgtca	13	11	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:112144688C>T	uc004bed.2	-	24	2534	c.2422G>A	c.(2422-2424)GCA>ACA	p.A808T	PTPN3_uc004beb.2_Missense_Mutation_p.A677T|PTPN3_uc004bec.2_Missense_Mutation_p.A632T|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.A763T|PTPN3_uc011lwh.1_Missense_Mutation_p.A654T|PTPN3_uc011lwd.1_Missense_Mutation_p.A276T|PTPN3_uc011lwe.1_Missense_Mutation_p.A521T|PTPN3_uc011lwf.1_Missense_Mutation_p.A476T	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	808	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						TCAGGCCATGCGACGTACTGG	0.572													T	112144688	C	T	112144688	3	4	11	1	0	0	0	0	1	0	0	0	12789	768	27	1	331	1	PTPN3	9	112144688	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	126884	112144688	29068743	588	9427											
DNAJC25	548645	broad.mit.edu	37	chr9	114415422	114415422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaattaaagaaaaagttgGcaaatgaccccagatggaag	10	5	0	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:114415422G>A	uc004bfl.2	+	4	1059	c.1003G>A	c.(1003-1005)GCA>ACA	p.A335T	DNAJC25-GNG10_uc004bfn.2_Intron|DNAJC25_uc004bfm.2_Missense_Mutation_p.A213T	NM_001015882	NP_001015882	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	335					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding				0						GAAAAAGTTGGCAAATGACCC	0.398													A	114415422	G	A	114415422	3	1	11	1	0	0	0	0	1	0	0	0	4643	1203	42	2	1017	2	DNAJC25	9	114415422	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2270734	114415422	26798009	589	9428											
HSDL2	84263	broad.mit.edu	37	chr9	115166406	115166406	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcccagccacatccaaaacTtctaggcacaatctatactg	5	15	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:115166406T>G	uc004bga.1	+	2	242	c.149T>G	c.(148-150)CTT>CGT	p.L50R	HSDL2_uc011lwv.1_Intron|HSDL2_uc004bgb.1_5'UTR|HSDL2_uc004bgc.1_Missense_Mutation_p.L50R|HSDL2_uc011lww.1_5'UTR	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	50						peroxisome	oxidoreductase activity|sterol binding				0						CATCCAAAACTTCTAGGCACA	0.428													G	115166406	T	G	115166406	3	3	11	1	0	0	0	0	1	0	0	0	7394	1609	56	5	155	5	HSDL2	9	115166406	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	750984	115166406	26047025	590	9429											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123334315	123334315	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctggtacactgggaacaaGgccactaggagagaacacat	11	9	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:123334315G>T	uc004bkf.2	-	2	245	c.64C>A	c.(64-66)CTT>ATT	p.L22I	CDK5RAP2_uc004bkg.2_Missense_Mutation_p.L22I|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.L22I	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	22					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						CTGGGAACAAGGCCACTAGGA	0.468													T	123334315	G	T	123334315	3	4	11	1	0	0	0	0	1	0	0	0	3146	1000	35	5	5765	5	CDK5RAP2	9	123334315	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	8167909	123334315	17879116	591	9430											
OR1Q1	158131	broad.mit.edu	37	chr9	125377600	125377600	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaccagcacctacctcaAcacccttatgattcacacag	4	17	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:125377600A>G	uc011lyy.1	+	1	584	c.584A>G	c.(583-585)AAC>AGC	p.N195S		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q,	195	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ACCTACCTCAACACCCTTATG	0.502													G	125377600	A	G	125377600	3	3	11	1	0	0	0	0	1	0	0	0	10971	43	2	3	586	3	OR1Q1	9	125377600	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	2043285	125377600	15835831	592	9431											
OR1K1	392392	broad.mit.edu	37	chr9	125563309	125563309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgatgtacagggggcactccGagcccttctcattgggcgaa	13	12	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:125563309G>A	uc011lze.1	+	1	908	c.908G>A	c.(907-909)CGA>CAA	p.R303Q		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K,	303	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GGGGCACTCCGAGCCCTTCTC	0.582													A	125563309	G	A	125563309	3	1	11	1	0	0	0	0	1	0	0	0	10962	1058	37	1	910	1	OR1K1	9	125563309	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	185709	125563309	15650122	593	9432											
CRB2	286204	broad.mit.edu	37	chr9	126132851	126132851	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagcaccactgtgcttgtcCtgagactgccggacctggcc	11	15	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:126132851C>A	uc004bnx.1	+	7	1611	c.1519C>A	c.(1519-1521)CTG>ATG	p.L507M	CRB2_uc004bnw.1_Missense_Mutation_p.L507M	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	507	Extracellular (Potential).|Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						TGTGCTTGTCCTGAGACTGCC	0.597													A	126132851	C	A	126132851	3	1	11	1	0	0	0	0	1	0	0	0	3849	680	24	5	1545	5	CRB2	9	126132851	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	569542	126132851	15080580	594	9433											
NEK6	10783	broad.mit.edu	37	chr9	127089654	127089654	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttcatcacagccacgggCgtcgtgaagctcggtgacct	13	12	2	2	rs147517890		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:127089654C>T	uc004bog.2	+	7	701	c.552C>T	c.(550-552)GGC>GGT	p.G184G	NEK6_uc004bof.2_Silent_p.G202G|NEK6_uc004boh.2_Silent_p.G218G|NEK6_uc010mwj.2_Silent_p.G137G|NEK6_uc010mwk.2_Silent_p.G184G|NEK6_uc004boi.2_Silent_p.G184G	NM_014397	NP_055212	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6 isoform 2	184	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|kidney(1)	3						CAGCCACGGGCGTCGTGAAGC	0.632													T	127089654	C	T	127089654	2	4	11	1	0	0	0	0	0	0	0	1	10328	755	27	1		1	NEK6	9	127089654	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	956803	127089654	14123777	595	9434											
GOLGA1	2800	broad.mit.edu	37	chr9	127650643	127650643	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcctgcagttggaagctgGaacacagggtcctgcatggc	13	11	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:127650643G>A	uc004bpc.2	-	19	2136	c.1794C>T	c.(1792-1794)TTC>TTT	p.F598F	GOLGA1_uc010mws.2_RNA	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	golgin 97	598	Potential.					Golgi cisterna membrane				ovary(1)	1						TTGGAAGCTGGAACACAGGGT	0.552													A	127650643	G	A	127650643	2	1	11	1	0	0	0	0	0	0	0	1	6551	1165	41	4		4	GOLGA1	9	127650643	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	560989	127650643	13562788	596	9435											
ZBTB43	23099	broad.mit.edu	37	chr9	129595614	129595614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacagagtccatcaacaccGtgcagacagagcacacggtg	10	13	2	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:129595614G>A	uc004bql.2	+	3	1099	c.826G>A	c.(826-828)GTG>ATG	p.V276M	ZBTB43_uc010mxf.2_Missense_Mutation_p.V276M	NM_014007	NP_054726	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CATCAACACCGTGCAGACAGA	0.572													A	129595614	G	A	129595614	3	1	11	1	0	0	0	0	1	0	0	0	17541	1145	40	1	828	1	ZBTB43	9	129595614	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1944971	129595614	11617817	597	9436											
SPTAN1	6709	broad.mit.edu	37	chr9	131395517	131395517	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggaacaagccgactactgCgtctcccacatgaagcccta	9	15	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:131395517C>T	uc004bvl.3	+	56	7436	c.7323C>T	c.(7321-7323)TGC>TGT	p.C2441C	SPTAN1_uc004bvm.3_Silent_p.C2446C|SPTAN1_uc004bvn.3_Silent_p.C2421C|SPTAN1_uc004bvo.3_Silent_p.C208C|SPTAN1_uc004bvp.3_Silent_p.C184C	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2441					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						CCGACTACTGCGTCTCCCACA	0.622													T	131395517	C	T	131395517	2	4	11	1	0	0	0	0	0	0	0	1	15116	776	27	1		1	SPTAN1	9	131395517	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1799903	131395517	9817914	598	9437											
LRRC8A	56262	broad.mit.edu	37	chr9	131670897	131670897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcggccaagattgaagCgcccgcgctggccttcctgc	12	16	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:131670897C>T	uc004bwl.3	+	3	1708	c.1454C>T	c.(1453-1455)GCG>GTG	p.A485V	LRRC8A_uc010myp.2_Missense_Mutation_p.A485V|LRRC8A_uc010myq.2_Missense_Mutation_p.A485V	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	485	LRR 5.				pre-B cell differentiation	integral to membrane					0						AAGATTGAAGCGCCCGCGCTG	0.612													T	131670897	C	T	131670897	3	4	11	1	0	0	0	0	1	0	0	0	9021	768	27	1	1456	1	LRRC8A	9	131670897	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	275380	131670897	9542534	599	9438											
GPR107	57720	broad.mit.edu	37	chr9	132862925	132862927	+	In_Frame_Del	DEL	CTC	CTC	-													cagattgactaccactacatCtcctcccagggcttccctat							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:132862924_132862926TCTC>T	uc004bze.2	+	10	1183_1185	c.956_958TCTC>T	c.(955-960)atctcc>aTcc	p.S321del	GPR107_uc004bzb.2_In_Frame_Del_p.S132del|GPR107_uc011mbx.1_In_Frame_Del_p.S321del|GPR107_uc004bzd.2_In_Frame_Del_p.S321del	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN	Homo sapiens G protein-coupled receptor 107 (GPR107), transcript variant 1, mRNA.	321						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TACCACTACATCTCCTCCCAGGG	0.419													-	132862927	CTC	-	132862925	7	5	11	1	0	1	0	1	0	0	0	0	6623	903	32	0	999	0	GPR107	9	132862925	In_Frame_Del	DEL	CTC	TCGA-BR-4256-01A-01D-1126-08	1192028	132862925	8350506	600	9439											
NUP214	8021	broad.mit.edu	37	chr9	134073110	134073110	+	Frame_Shift_Del	DEL	T	T	-													cagcacttcctcaactgccgTttttggcagtctgccagtca							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:134073109_134073109GT>G	uc004cag.3	+	28	4339	c.4228_4228GT>G	c.(4228-4230)gttfs	p.V1410fs	NUP214_uc004cah.3_Frame_Shift_Del_p.V1400fs|NUP214_uc004cai.3_Frame_Shift_Del_p.V840fs|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Frame_Shift_Del_p.V236fs|NUP214_uc011mcf.1_Frame_Shift_Del_p.V187fs|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1410	11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CTCAACTGCCGTTTTTGGCAG	0.557			T	"DEK, SET, ABL1"	"AML, T-ALL"								-	134073110	T	-	134073110	7	5	11	1	0	1	0	1	0	0	0	0	10762	1725	60	0	4343	0	NUP214	9	134073110	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	1210185	134073110	7140321	601	9440											
BAT2L1	84726	broad.mit.edu	37	chr9	134340174	134340174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcaatgggcagcatgttcCggcaacagtccatcgaggac	11	12	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:134340174C>T	uc004can.3	+	11	1484	c.1429C>T	c.(1429-1431)CGG>TGG	p.R477W	BAT2L1_uc010mzj.1_Missense_Mutation_p.R60W	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	477							protein binding				0						CAGCATGTTCCGGCAACAGTC	0.582													T	134340174	C	T	134340174	3	4	11	1	0	0	0	0	1	0	0	0	1320	643	23	1	1471	1	BAT2L1	9	134340174	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	267064	134340174	6873257	602	9441											
SETX	23064	broad.mit.edu	37	chr9	135139706	135139706	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctagagttcctcctggtgtGatgggtctcggaaccacact	11	12	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:135139706G>T	uc004cbk.2	-	26	8137	c.7954C>A	c.(7954-7956)CAC>AAC	p.H2652N	SETX_uc004cbj.2_Missense_Mutation_p.H2300N|SETX_uc010mzt.2_Missense_Mutation_p.H2238N	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	2652					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTCCTGGTGTGATGGGTCTCG	0.537													T	135139706	G	T	135139706	3	4	11	1	0	0	0	0	1	0	0	0	14141	1290	45	5	83	5	SETX	9	135139706	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	799532	135139706	6073725	603	9442											
GTF3C4	9329	broad.mit.edu	37	chr9	135555180	135555180	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgatgaagagtatgatgacaGaactgcacgggtaggtgttt	14	4	0	6			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:135555180G>T	uc010mzv.2	+	2	2432	c.2174G>T	c.(2173-2175)AGA>ATA	p.R725I	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	725					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TATGATGACAGAACTGCACGG	0.408													T	135555180	G	T	135555180	3	4	11	1	0	0	0	0	1	0	0	0	6875	942	33	5	2180	5	GTF3C4	9	135555180	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	415474	135555180	5658251	604	9443											
WDR5	11091	broad.mit.edu	37	chr9	137019598	137019598	+	Frame_Shift_Del	DEL	C	C	-													tttattgcagatgacgacaaCccccccgtgtcttttgtgaa							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:137019597_137019597AC>A	uc004cey.3	+	9	812	c.641_641AC>A	c.(640-642)aacfs	p.N214fs	WDR5_uc004cez.3_Frame_Shift_Del_p.N214fs	NM_017588	NP_438172	P61964	WDR5_HUMAN	Homo sapiens WD repeat domain 5 (WDR5), transcript variant 1, mRNA.	214					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		GATGACGACAACCCCCCCGTG	0.627													-	137019598	C	-	137019598	7	5	11	1	0	1	0	1	0	0	0	0	17300	506	18	0	676	0	WDR5	9	137019598	Frame_Shift_Del	DEL	C	TCGA-BR-4256-01A-01D-1126-08	1464418	137019598	4193833	605	9444											
CAMSAP1	157922	broad.mit.edu	37	chr9	138714112	138714112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacactgctcatctgagaggCtgtgctcaggcaggggctcg	15	11	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:138714112C>T	uc004cgr.3	-	11	2395	c.2395G>A	c.(2395-2397)GCC>ACC	p.A799T	CAMSAP1_uc004cgq.3_Missense_Mutation_p.A689T|CAMSAP1_uc010nbg.2_Missense_Mutation_p.A521T	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	799						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		ATCTGAGAGGCTGTGCTCAGG	0.577													T	138714112	C	T	138714112	3	4	11	1	0	0	0	0	1	0	0	0	2611	797	28	2	2441	2	CAMSAP1	9	138714112	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1694514	138714112	2499319	606	9445											
EDF1	8721	broad.mit.edu	37	chr9	139757844	139757844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagctcctctgtctcccGgtccagcttggccgtgttct	11	15	3	0	rs139723037		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:139757844G>A	uc004cjt.1	-	3	215	c.187C>T	c.(187-189)CGG>TGG	p.R63W	EDF1_uc004cju.1_Missense_Mutation_p.R63W	NM_003792	NP_003783	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	63	Interaction with NR5A2, PPARG and NR1H3.				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|protein binding|sequence-specific DNA binding|transcription coactivator activity				0	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TCTGTCTCCCGGTCCAGCTTG	0.572													A	139757844	G	A	139757844	3	1	11	1	0	0	0	0	1	0	0	0	4914	1115	39	1	306	1	EDF1	9	139757844	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1043732	139757844	1455587	607	9446											
UPF2	26019	broad.mit.edu	37	chr10	12006024	12006024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaccaaaagtacactggtcCtcaggtgagattctggagat	10	8	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:12006024C>T	uc001ila.2	-	10	2642	c.2168G>A	c.(2167-2169)AGG>AAG	p.R723K	UPF2_uc001ilb.2_Missense_Mutation_p.R723K|UPF2_uc001ilc.2_Missense_Mutation_p.R723K|UPF2_uc009xiz.1_Missense_Mutation_p.R723K	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	723	MIF4G 2.|Sufficient for interaction with UPF3A and UPF3B.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				TACACTGGTCCTCAGGTGAGA	0.458													T	12006024	C	T	12006024	3	4	11	1	0	0	0	0	1	0	0	0	17001	681	24	4	1698	4	UPF2	10	12006024	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08		12006024	123528723	608	9447											
UPF2	26019	broad.mit.edu	37	chr10	12071324	12071324	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccattaaaatcatgggacaAggagtctctctgttgttctg	10	8	4	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:12071324A>C	uc001ila.2	-	2	1039	c.565T>G	c.(565-567)TTG>GTG	p.L189V	UPF2_uc001ilb.2_Missense_Mutation_p.L189V|UPF2_uc001ilc.2_Missense_Mutation_p.L189V|UPF2_uc009xiz.1_Missense_Mutation_p.L189V	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	189	MIF4G 1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				TCATGGGACAAGGAGTCTCTC	0.383													C	12071324	A	C	12071324	3	2	11	1	0	0	0	0	1	0	0	0	17001	69	3	5	3333	5	UPF2	10	12071324	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	65300	12071324	123463423	609	9448											
FRMD4A	55691	broad.mit.edu	37	chr10	13708227	13708227	+	Frame_Shift_Del	DEL	T	T	-													gttttcctttgtttcttcagTtttttgctgacgttggggtc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:13708226_13708226GT>G	uc001ims.3	-	17	1826	c.1474_1474AC>C	c.(1474-1476)ctgfs	p.L492fs	FRMD4A_uc009xjf.1_Frame_Shift_Del_p.L492fs|FRMD4A_uc001imt.1_Frame_Shift_Del_p.L525fs	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	492						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TGTTTCTTCAGTTTTTTGCTG	0.502													-	13708227	T	-	13708227	7	5	11	1	0	1	0	1	0	0	0	0	6051	1722	60	0	1674	0	FRMD4A	10	13708227	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	1636903	13708227	121826520	610	9449											
CUBN	8029	broad.mit.edu	37	chr10	16942758	16942758	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccacagtattgtcctatgAtgggtgattcaggggaccca	11	9	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:16942758A>G	uc001ioo.2	-	53	8328	c.8276T>C	c.(8275-8277)ATC>ACC	p.I2759T	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.I115T	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2759	CUB 20.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGTCCTATGATGGGTGATTC	0.463													G	16942758	A	G	16942758	3	3	11	1	0	0	0	0	1	0	0	0	4051	333	12	3	2655	3	CUBN	10	16942758	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	3234531	16942758	118591989	611	9450											
SLC39A12	221074	broad.mit.edu	37	chr10	18276457	18276457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctcacactgggctccatGctggggacagcgctggtcct	12	14	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:18276457G>A	uc001ipo.2	+	7	1419	c.1146G>A	c.(1144-1146)ATG>ATA	p.M382I	SLC39A12_uc001ipn.2_Missense_Mutation_p.M382I|SLC39A12_uc001ipp.2_Missense_Mutation_p.M382I|SLC39A12_uc010qck.1_Missense_Mutation_p.M248I	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	382	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						TGGGCTCCATGCTGGGGACAG	0.557													A	18276457	G	A	18276457	3	1	11	1	0	0	0	0	1	0	0	0	14615	1319	46	2	1168	2	SLC39A12	10	18276457	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1333699	18276457	117258290	612	9451											
NSUN6	221078	broad.mit.edu	37	chr10	18834895	18834895	+	Frame_Shift_Del	DEL	A	A	-													cattttacaaattttgcaatAaaaaaacctatagagtcctt							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:18834894_18834894TA>T	uc010qcp.1	-	10	1796	c.1378_1378TA>A	c.(1378-1380)attfs	p.I460fs	NSUN6_uc001iqb.3_5'Flank	NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	Homo sapiens NOP2/Sun domain family, member 6 (NSUN6), mRNA.	460							RNA binding|methyltransferase activity			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AATTTTGCAATAAAAAAACCT	0.393													-	18834895	A	-	18834895	7	5	11	1	0	1	0	1	0	0	0	0	10682	359	13	0	36	0	NSUN6	10	18834895	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	558438	18834895	116699852	613	9452											
YME1L1	10730	broad.mit.edu	37	chr10	27403477	27403477	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggattcttatttcttgttcGatggcagattgggtttctgg	12	5	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:27403477G>A	uc001iti.2	-	19	2333	c.2151C>T	c.(2149-2151)ATC>ATT	p.I717I	YME1L1_uc001itj.2_Silent_p.I660I|YME1L1_uc010qdl.1_Silent_p.I627I|YME1L1_uc009xkv.2_RNA	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	717					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						TTTCTTGTTCGATGGCAGATT	0.333													A	27403477	G	A	27403477	2	1	11	1	0	0	0	0	0	0	0	1	17484	1048	37	1		1	YME1L1	10	27403477	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	8568582	27403477	108131270	614	9453											
MPP7	143098	broad.mit.edu	37	chr10	28420597	28420597	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtaattcttctgagccacAgtatcatgtacagagagcaa	8	9	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:28420597A>G	uc001iua.1	-	8	743	c.339T>C	c.(337-339)ACT>ACC	p.T113T	MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Silent_p.T113T|MPP7_uc009xla.2_Silent_p.T113T|MPP7_uc010qdv.1_RNA	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	palmitoylated membrane protein 7	113	L27 2.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			ovary(1)	1						TCTGAGCCACAGTATCATGTA	0.299													G	28420597	A	G	28420597	2	3	11	1	0	0	0	0	0	0	0	1	9739	175	7	3		3	MPP7	10	28420597	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	1017120	28420597	107114150	615	9454											
KIAA1462	57608	broad.mit.edu	37	chr10	30317027	30317027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgatctctgtaccggtGccctggccaagagccagaat	11	12	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:30317027G>A	uc001iux.2	-	2	2109	c.2050C>T	c.(2050-2052)CAC>TAC	p.H684Y	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.H546Y|KIAA1462_uc009xle.1_Missense_Mutation_p.H684Y	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	684										ovary(4)	4						CTGTACCGGTGCCCTGGCCAA	0.532													A	30317027	G	A	30317027	3	1	11	1	0	0	0	0	1	0	0	0	8234	1319	46	2	2037	2	KIAA1462	10	30317027	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1896430	30317027	105217720	616	9455											
ZEB1	6935	broad.mit.edu	37	chr10	31791321	31791321	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaaaatgagcaaaaccAtgatcctaatgttgaagagt	9	6	0	5			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:31791321A>G	uc001ivs.3	+	4	428	c.365A>G	c.(364-366)CAT>CGT	p.H122R	ZEB1_uc001ivr.3_5'UTR|ZEB1_uc010qee.1_5'UTR|ZEB1_uc010qef.1_5'UTR|ZEB1_uc009xlh.1_RNA|ZEB1_uc009xli.1_RNA|ZEB1_uc009xlj.1_Intron|ZEB1_uc010qeg.1_Intron|ZEB1_uc009xlk.1_5'UTR|ZEB1_uc001ivt.3_5'UTR|ZEB1_uc001ivu.3_Missense_Mutation_p.H123R|ZEB1_uc001ivv.3_Missense_Mutation_p.H102R|ZEB1_uc010qeh.1_Missense_Mutation_p.H55R|ZEB1_uc009xll.2_RNA|ZEB1_uc009xlm.1_RNA|ZEB1_uc009xln.1_RNA|ZEB1_uc009xlo.1_Missense_Mutation_p.H105R|ZEB1_uc009xlp.2_Missense_Mutation_p.H106R	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	122					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				GAGCAAAACCATGATCCTAAT	0.403													G	31791321	A	G	31791321	3	3	11	1	0	0	0	0	1	0	0	0	17620	217	8	3	393	3	ZEB1	10	31791321	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	1474294	31791321	103743426	617	9456											
CCDC7	221016	broad.mit.edu	37	chr10	32740668	32740668	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acataatttaccattatcacCtgagctaaaggaaaaacata	4	8	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:32740668C>A	uc001iwj.2	+	2	668	c.98C>A	c.(97-99)CCT>CAT	p.P33H	CCDC7_uc009xlu.1_RNA|CCDC7_uc001iwk.2_Missense_Mutation_p.P33H|CCDC7_uc009xlv.2_RNA|CCDC7_uc009xlw.1_RNA|CCDC7_uc009xlx.1_Missense_Mutation_p.P33H|CCDC7_uc009xly.1_RNA	NM_145023	NP_659460	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	33											0		Breast(68;0.000207)|Prostate(175;0.0107)				CCATTATCACCTGAGCTAAAG	0.343													A	32740668	C	A	32740668	3	1	11	1	0	0	0	0	1	0	0	0	2842	681	24	5	100	5	CCDC7	10	32740668	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	949347	32740668	102794079	618	9457											
ITGB1	3688	broad.mit.edu	37	chr10	33209310	33209310	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaaatgacttctgaggaaaGggactaaaagaatgcctaat	9	6	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:33209310G>T	uc001iws.3	-	10	1268	c.1132C>A	c.(1132-1134)CTT>ATT	p.L378I	ITGB1_uc001iwp.3_Missense_Mutation_p.L378I|ITGB1_uc001iwq.3_Missense_Mutation_p.L378I|ITGB1_uc001iwr.3_Missense_Mutation_p.L378I|ITGB1_uc001iwt.3_Missense_Mutation_p.L378I|ITGB1_uc001iwu.1_Missense_Mutation_p.L378I	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	378	Extracellular (Potential).|VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TCTGAGGAAAGGGACTAAAAG	0.353													T	33209310	G	T	33209310	3	4	11	1	0	0	0	0	1	0	0	0	7890	1000	35	5	1530	5	ITGB1	10	33209310	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	468642	33209310	102325437	619	9458											
NRP1	8829	broad.mit.edu	37	chr10	33469287	33469287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaccttcgtatcctggcGtgctccctatggaaaaaaac	7	13	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:33469287G>A	uc001iwx.3	-	17	3012	c.2489C>T	c.(2488-2490)ACG>ATG	p.T830M	NRP1_uc001iwv.3_Missense_Mutation_p.T813M|NRP1_uc009xlz.2_Missense_Mutation_p.T824M|NRP1_uc001iww.3_Missense_Mutation_p.T642M|NRP1_uc001iwy.3_Missense_Mutation_p.T823M	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	830	Extracellular (Potential).				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	GTATCCTGGCGTGCTCCCTAT	0.473													A	33469287	G	A	33469287	3	1	11	1	0	0	0	0	1	0	0	0	10660	1145	40	1	286	1	NRP1	10	33469287	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	259977	33469287	102065460	620	9459											
BMS1	9790	broad.mit.edu	37	chr10	43297650	43297650	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgataaagatgcagccaaGgtcttagcagaagatggtaa	12	5	1	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:43297650G>T	uc001jaj.2	+	13	2671	c.2313G>T	c.(2311-2313)AAG>AAT	p.K771N		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	771					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						ATGCAGCCAAGGTCTTAGCAG	0.398													T	43297650	G	T	43297650	3	4	11	1	0	0	0	0	1	0	0	0	1472	991	35	5	2359	5	BMS1	10	43297650	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	9828363	43297650	92237097	621	9460											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43656003	43656003	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtattttggtaaagaaGgactgtctaaagtcaagtct	11	4	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:43656003G>T	uc001jan.2	+	4	1275	c.940G>T	c.(940-942)GGA>TGA	p.G314*	CSGALNACT2_uc001jam.1_Nonsense_Mutation_p.G314*	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate	314	Lumenal (Potential).				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			ovary(1)	1						TGGTAAAGAAGGACTGTCTAA	0.353													T	43656003	G	T	43656003	4	4	11	1	0	0	0	0	0	1	0	0	3939	1001	35	5	950	5	CSGALNACT2	10	43656003	Nonsense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	358353	43656003	91878744	622	9461											
ALOX5	240	broad.mit.edu	37	chr10	45877991	45877991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatccagctggtcagaatcGagaagcgcaagtactggctg	13	9	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:45877991G>A	uc001jce.2	+	2	310	c.211G>A	c.(211-213)GAG>AAG	p.E71K	ALOX5_uc009xmt.2_Missense_Mutation_p.E71K|ALOX5_uc010qfg.1_Missense_Mutation_p.E71K	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	71	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			ovary(1)|pancreas(1)	2		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GGTCAGAATCGAGAAGCGCAA	0.567													A	45877991	G	A	45877991	3	1	11	1	0	0	0	0	1	0	0	0	540	1059	37	1	217	1	ALOX5	10	45877991	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2221988	45877991	89656756	623	9462											
RBP3	5949	broad.mit.edu	37	chr10	48390672	48390672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcagcacactggccagcGtctgcgggtctgagatgctc	13	13	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:48390672G>A	uc001jez.2	-	1	320	c.206C>T	c.(205-207)ACG>ATG	p.T69M		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	69	4 X approximate tandem repeats.|1.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	ACTGGCCAGCGTCTGCGGGTC	0.607													A	48390672	G	A	48390672	3	1	11	1	0	0	0	0	1	0	0	0	13157	1145	40	1	3553	1	RBP3	10	48390672	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2512681	48390672	87144075	624	9463											
FAM13C	220965	broad.mit.edu	37	chr10	61043190	61043190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgggtccttgactccatgCacctgagcagcttcttcctg	10	15	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:61043190C>T	uc001jkn.2	-	7	659	c.525G>A	c.(523-525)GTG>GTA	p.V175V	FAM13C_uc001jko.2_Silent_p.V175V|FAM13C_uc010qid.1_Silent_p.V92V|FAM13C_uc010qie.1_Silent_p.V92V|FAM13C_uc010qif.1_Silent_p.V197V|FAM13C_uc001jkp.2_Silent_p.V92V	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	175										ovary(2)	2						TGACTCCATGCACCTGAGCAG	0.527													T	61043190	C	T	61043190	2	4	11	1	0	0	0	0	0	0	0	1	5454	697	25	2		2	FAM13C	10	61043190	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	12652518	61043190	74491557	625	9464											
HNRNPH3	3189	broad.mit.edu	37	chr10	70097668	70097668	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatggactaccaggggagaAgcacaggggaggccttcgtg	17	9	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:70097668A>C	uc001jnw.3	+	3	395	c.166A>C	c.(166-168)AGC>CGC	p.S56R	HNRNPH3_uc001jnx.3_Missense_Mutation_p.S56R|HNRNPH3_uc009xpu.2_5'UTR|HNRNPH3_uc010qiv.1_Intron|HNRNPH3_uc001jny.3_Missense_Mutation_p.S7R	NM_012207	NP_036339	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3	56	RRM 1.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			ovary(2)	2						CCAGGGGAGAAGCACAGGGGA	0.488													C	70097668	A	C	70097668	3	2	11	1	0	0	0	0	1	0	0	0	7268	72	3	5	172	5	HNRNPH3	10	70097668	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	9054478	70097668	65437079	626	9465											
TET1	80312	broad.mit.edu	37	chr10	70332273	70332273	+	Frame_Shift_Del	DEL	A	A	-													ttcaagaaagagatgttaagAaaaaaacagaacctaaacca							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:70332272_70332272GA>G	uc001jok.4	+	1	682	c.177_177GA>G	c.(175-177)aagfs	p.K59fs		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	59					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAGATGTTAAGAAAAAAACAG	0.413													-	70332273	A	-	70332273	7	5	11	1	0	1	0	1	0	0	0	0	15766	247	9	0	180	0	TET1	10	70332273	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	234605	70332273	65202474	627	9466											
C10orf27	219793	broad.mit.edu	37	chr10	72539499	72539499	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacaggcttcccggtgagatCtgcaaagggttagaggctgt	15	8	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:72539499C>T	uc001jrj.1	-	5	668	c.278_splice	c.e5-1	p.D93_splice	C10orf27_uc010qjm.1_Splice_Site_p.D93_splice|C10orf27_uc009xqh.1_Splice_Site|C10orf27_uc010qjn.1_Splice_Site_p.D93_splice|C10orf27_uc009xqi.1_Intron|C10orf27_uc010qjo.1_Splice_Site_p.D82_splice|C10orf27_uc009xqj.1_Silent_p.Q87Q|C10orf27_uc010qjp.1_Splice_Site_p.D82_splice	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	stromal protein associated with thymii and lymph						cell differentiation|multicellular organismal development|spermatogenesis	cytosol				skin(1)	1						CCGGTGAGATCTGCAAAGGGT	0.577													T	72539499	C	T	72539499	5	4	11	1	0	0	0	0	0	0	1	0	1600	927	32	4	806	4	C10orf27	10	72539499	Splice_Site	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2207226	72539499	62995248	628	9467											
SLC29A3	55315	broad.mit.edu	37	chr10	73121832	73121832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcccacacaccccctctcCgccccatcctgaagaagacg	5	20	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:73121832C>T	uc001jrr.3	+	6	952	c.895C>T	c.(895-897)CGC>TGC	p.R299C	SLC29A3_uc001jrs.3_3'UTR|SLC29A3_uc010qjq.1_Missense_Mutation_p.R153C|SLC29A3_uc001jrt.3_Missense_Mutation_p.R93C|SLC29A3_uc001jru.3_Missense_Mutation_p.R111C	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (nucleoside	299	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity				0						ACCCCCTCTCCGCCCCATCCT	0.587													T	73121832	C	T	73121832	3	4	11	1	0	0	0	0	1	0	0	0	14536	652	23	1	921	1	SLC29A3	10	73121832	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	582333	73121832	62412915	629	9468											
FUT11	170384	broad.mit.edu	37	chr10	75533570	75533570	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagattcctgagaatgAcaggtaagagtgctggggtc	16	5	0	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:75533570A>G	uc001jva.2	+	2	1374	c.1331A>G	c.(1330-1332)GAC>GGC	p.D444G	FUT11_uc001juy.1_3'UTR|FUT11_uc001juz.1_Missense_Mutation_p.D444G	NM_173540	NP_775811	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3)	444	Lumenal (Potential).				protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity				0	Prostate(51;0.0112)					CCTGAGAATGACAGGTAAGAG	0.537													G	75533570	A	G	75533570	3	3	11	1	0	0	0	0	1	0	0	0	6103	275	10	3	1337	3	FUT11	10	75533570	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	2411738	75533570	60001177	630	9469											
PPIF	10105	broad.mit.edu	37	chr10	81113488	81113488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcaagcatgttgtgttcGgtcacgtcaaagagggcatg	14	7	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:81113488G>A	uc001kai.2	+	6	599	c.514G>A	c.(514-516)GGT>AGT	p.G172S	PPIF_uc001kaj.2_Silent_p.S146S	NM_005729	NP_005720	P30405	PPIF_HUMAN	peptidylprolyl isomerase F precursor	172	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity			skin(1)	1	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)	TGTTGTGTTCGGTCACGTCAA	0.512													A	81113488	G	A	81113488	3	1	11	1	0	0	0	0	1	0	0	0	12323	1116	39	1	536	1	PPIF	10	81113488	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	5579918	81113488	54421259	631	9470											
PPIF	10105	broad.mit.edu	37	chr10	81113585	81113585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgtcatcacagactgtgGccagttgagctaatctgtgg	12	8	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:81113585G>A	uc001kai.2	+	6	696	c.611G>A	c.(610-612)GGC>GAC	p.G204D	PPIF_uc001kaj.2_3'UTR	NM_005729	NP_005720	P30405	PPIF_HUMAN	peptidylprolyl isomerase F precursor	204	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity			skin(1)	1	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)	ACAGACTGTGGCCAGTTGAGC	0.542													A	81113585	G	A	81113585	3	1	11	1	0	0	0	0	1	0	0	0	12323	1203	42	2	633	2	PPIF	10	81113585	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	97	81113585	54421162	632	9471											
SFTPA2	729238	broad.mit.edu	37	chr10	81317088	81317088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccctcggtaccagttggtGtagtttacaggggtcccatc	11	12	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:81317088G>A	uc001kal.3	-	6	721	c.624C>T	c.(622-624)TAC>TAT	p.Y208Y	SFTPA2_uc001kan.3_Silent_p.Y208Y	NM_006926	NP_008857	Q8IWL1	SFPA2_HUMAN	RecName: Full=Pulmonary surfactant-associated protein A2;          Short=SP-A2;          Short=SP-A;          Short=PSP-A;          Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor;	208	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding				0	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			ACCAGTTGGTGTAGTTTACAG	0.547									Pulmonary_Fibrosis_Idiopathic				A	81317088	G	A	81317088	2	1	11	1	0	0	0	0	0	0	0	1	14190	1372	48	4		4	SFTPA2	10	81317088	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	203503	81317088	54217659	633	9472											
PTEN	5728	broad.mit.edu	37	chr10	89693003	89693003	+	Frame_Shift_Del	DEL	A	A	-													gggaagtaaggaccagagacAaaaaggtaagttattttttg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:89693002_89693002CA>C	uc001kfb.3	+	4	1518	c.486_486CA>C	c.(484-486)gacfs	p.D162fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	162	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.R161I(2)|p.Y27fs*1(2)|p.R161K(2)|p.Y27_N212>Y(2)|p.D162fs*8(2)|p.R161G(1)|p.D162H(1)|p.D162V(1)|p.F56fs*2(1)|p.D162G(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGACCAGAGACAAAAAGGTAA	0.353		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89693003	A	-	89693003	7	5	11	1	0	1	0	1	0	0	0	0	12738	131	5	0	505	0	PTEN	10	89693003	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	8375915	89693003	45841744	634	9473											
KIF20B	9585	broad.mit.edu	37	chr10	91483733	91483733	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatagaaactgttggacTtaatagaagacttgaaaaaa	8	3	0	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:91483733T>C	uc001kgs.1	+	14	1807	c.1735T>C	c.(1735-1737)TTA>CTA	p.L579L	KIF20B_uc001kgr.1_Silent_p.L579L|KIF20B_uc001kgt.1_5'UTR	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	579	Potential.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3						ACTGTTGGACTTAATAGAAGA	0.254													C	91483733	T	C	91483733	2	2	11	1	0	0	0	0	0	0	0	1	8287	1606	56	3		3	KIF20B	10	91483733	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	1790730	91483733	44051014	635	9474											
EXOC6	54536	broad.mit.edu	37	chr10	94712135	94712135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattttcagagtcactacacCggaggtgagtttactaatca	8	8	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:94712135C>T	uc001kig.2	+	15	1588	c.1522C>T	c.(1522-1524)CGG>TGG	p.R508W	EXOC6_uc010qnr.1_Missense_Mutation_p.R524W|EXOC6_uc001kie.2_Missense_Mutation_p.R503W|EXOC6_uc009xub.2_Missense_Mutation_p.R507W|EXOC6_uc009xuc.2_Missense_Mutation_p.R405W|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_Missense_Mutation_p.R82W	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN	SEC15-like 1 isoform a	508					protein transport|vesicle docking involved in exocytosis	exocyst				skin(1)	1		Colorectal(252;0.123)				GTCACTACACCGGAGGTGAGT	0.284													T	94712135	C	T	94712135	3	4	11	1	0	0	0	0	1	0	0	0	5308	643	23	1	1670	1	EXOC6	10	94712135	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3228402	94712135	40822612	636	9475											
MYOF	26509	broad.mit.edu	37	chr10	95083098	95083098	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcttggggaaaacatccacCcacatctgaagttttcccta	6	13	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:95083098C>A	uc001kin.2	-	47	5412	c.5289G>T	c.(5287-5289)TGG>TGT	p.W1763C	MYOF_uc001kio.2_Missense_Mutation_p.W1750C|MYOF_uc009xue.2_Intron	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1763	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						AAACATCCACCCACATCTGAA	0.433													A	95083098	C	A	95083098	3	1	11	1	0	0	0	0	1	0	0	0	10089	624	22	5	928	5	MYOF	10	95083098	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	370963	95083098	40451649	637	9476											
MYOF	26509	broad.mit.edu	37	chr10	95113648	95113648	+	Splice_Site	DEL	A	A	-													gatggtagatgtagactcctAaaaaaacaggataaagatta							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:95113647_95113647TA>T	uc001kin.3	-	32	3527	c.3404_splice	c.e32-1	p.R1135_splice	MYOF_uc001kio.3_Splice_Site_p.R1122_splice|MYOF_uc009xue.3_Splice_Site	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1135	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGTAGACTCCTAAAAAAACAG	0.343													-	95113648	A	-	95113648	8	5	11	1	0	1	0	1	0	0	1	0	10089	377	13	0		0	MYOF	10	95113648	Splice_Site	DEL	A	TCGA-BR-4256-01A-01D-1126-08	30550	95113648	40421099	638	9477											
ENTPD1	953	broad.mit.edu	37	chr10	97624518	97624518	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagtaaaggagaagtaccTgagtgaatactgcttttctg	12	5	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:97624518T>C	uc001klh.3	+	9	1550	c.1226T>C	c.(1225-1227)CTG>CCG	p.L409P	ENTPD1_uc001kli.3_Missense_Mutation_p.L416P|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Missense_Mutation_p.L421P|ENTPD1_uc010qok.1_Missense_Mutation_p.L301P|ENTPD1_uc010qol.1_Missense_Mutation_p.L301P|ENTPD1_uc010qom.1_Missense_Mutation_p.L368P|ENTPD1_uc010qon.1_Missense_Mutation_p.L271P|ENTPD1_uc009xva.2_Missense_Mutation_p.L271P|ENTPD1_uc009xuz.2_RNA	NM_001776	NP_001767	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	409	Extracellular (Potential).				cell adhesion	integral to plasma membrane	ATP binding			ovary(3)	3		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GAGAAGTACCTGAGTGAATAC	0.453													C	97624518	T	C	97624518	3	2	11	1	0	0	0	0	1	0	0	0	5138	1580	55	3	1357	3	ENTPD1	10	97624518	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	2510870	97624518	37910229	639	9478											
RRP12	23223	broad.mit.edu	37	chr10	99139083	99139083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttagccaggggcaagaAgtaggtggtgaaaaaaccaa	15	5	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:99139083A>C	uc001knf.2	-	15	1904	c.1765T>G	c.(1765-1767)TTC>GTC	p.F589V	RRP12_uc009xvm.2_Missense_Mutation_p.F307V|RRP12_uc010qou.1_Missense_Mutation_p.F528V|RRP12_uc009xvn.2_Missense_Mutation_p.F489V	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	589						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		AGGGGCAAGAAGTAGGTGGTG	0.537													C	99139083	A	C	99139083	3	2	11	1	0	0	0	0	1	0	0	0	13686	72	3	5	2208	5	RRP12	10	99139083	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	1514565	99139083	36395664	640	9479											
AVPI1	60370	broad.mit.edu	37	chr10	99439420	99439420	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtggcccaggggtttctgCcttgggggcctcttcctgcg	16	12	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:99439420C>T	uc001koh.1	-	2	354	c.243G>A	c.(241-243)AGG>AGA	p.R81R	AVPI1_uc001koi.2_Silent_p.R81R	NM_021732	NP_068378	Q5T686	AVPI1_HUMAN	vasopressin-induced protein, 32kDa	81				R -> K (in Ref. 3; BAD96819).	cell cycle					breast(1)	1		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		GGGGTTTCTGCCTTGGGGGCC	0.577													T	99439420	C	T	99439420	2	4	11	1	0	0	0	0	0	0	0	1	1230	738	26	2		2	AVPI1	10	99439420	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	300337	99439420	36095327	641	9480											
LOXL4	84171	broad.mit.edu	37	chr10	100017916	100017916	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccggagcgcaggcgcaccctCggctcctgctgggagaaacc	14	16	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:100017916C>T	uc001kpa.1	-	7	1078	c.927G>A	c.(925-927)CCG>CCA	p.P309P		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4 precursor	309						extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			ovary(3)|breast(1)|skin(1)	5		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GGCGCACCCTCGGCTCCTGCT	0.687													T	100017916	C	T	100017916	2	4	11	1	0	0	0	0	0	0	0	1	8902	871	31	1		1	LOXL4	10	100017916	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	578496	100017916	35516831	642	9481											
PYROXD2	84795	broad.mit.edu	37	chr10	100147059	100147059	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcatagacctcgatgcaatCaaacactggggtgccaaaaa	10	10	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:100147059C>T	uc001kpc.2	-	14	1539	c.1453G>A	c.(1453-1455)GAT>AAT	p.D485N	PYROXD2_uc001kpb.2_RNA|PYROXD2_uc001kpd.2_RNA	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase	485							oxidoreductase activity			central_nervous_system(1)	1						TCGATGCAATCAAACACTGGG	0.408													T	100147059	C	T	100147059	3	4	11	1	0	0	0	0	1	0	0	0	12867	826	29	4	304	4	PYROXD2	10	100147059	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	129143	100147059	35387688	643	9482											
MGEA5	10724	broad.mit.edu	37	chr10	103558747	103558747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaactgcaaatcctccaggGtcactggttccgcagtgtac	10	12	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:103558747G>A	uc001ktv.2	-	9	2104	c.1661C>T	c.(1660-1662)ACC>ATC	p.T554I	MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Missense_Mutation_p.T501I|MGEA5_uc009xws.2_Missense_Mutation_p.T501I|MGEA5_uc001ktw.2_Missense_Mutation_p.T554I|MGEA5_uc009xwt.2_Missense_Mutation_p.T317I	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	554					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		ATCCTCCAGGGTCACTGGTTC	0.468													A	103558747	G	A	103558747	3	1	11	1	0	0	0	0	1	0	0	0	9555	1261	44	4	1121	4	MGEA5	10	103558747	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3411688	103558747	31976000	644	9483											
NOLC1	9221	broad.mit.edu	37	chr10	103921390	103921390	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaagataaagcttcagAcccctaacacatttccaaaa	4	12	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:103921390A>G	uc001kuo.2	+	11	2054	c.1819A>G	c.(1819-1821)ACC>GCC	p.T607A	NOLC1_uc001kup.2_Missense_Mutation_p.T617A|NOLC1_uc001kuq.2_Missense_Mutation_p.T608A|NOLC1_uc009xxb.1_Missense_Mutation_p.T326A|NOLC1_uc001kur.2_Missense_Mutation_p.T326A	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	607	Nuclear localization signal (Potential).				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		AAAGCTTCAGACCCCTAACAC	0.428													G	103921390	A	G	103921390	3	3	11	1	0	0	0	0	1	0	0	0	10529	275	10	3	1861	3	NOLC1	10	103921390	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	362643	103921390	31613357	645	9484											
GBF1	8729	broad.mit.edu	37	chr10	104120057	104120057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgattcacatgggactgCatttgctgacagtggccctt	10	9	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:104120057C>T	uc001kux.1	+	12	1534	c.1294C>T	c.(1294-1296)CAT>TAT	p.H432Y	GBF1_uc001kuw.2_3'UTR|GBF1_uc001kuy.1_Missense_Mutation_p.H432Y|GBF1_uc001kuz.1_Missense_Mutation_p.H433Y	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	432					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CATGGGACTGCATTTGCTGAC	0.547													T	104120057	C	T	104120057	3	4	11	1	0	0	0	0	1	0	0	0	6271	710	25	2	1336	2	GBF1	10	104120057	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	198667	104120057	31414690	646	9485											
NFKB2	4791	broad.mit.edu	37	chr10	104156720	104156720	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggtaacacacagtgacccAcctcgtgctcatgcccacag	8	16	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:104156720A>G	uc001kvb.2	+	6	568	c.303A>G	c.(301-303)CCA>CCG	p.P101P	NFKB2_uc001kva.2_Silent_p.P101P|NFKB2_uc010qqk.1_Silent_p.P101P|NFKB2_uc001kvd.2_Silent_p.P101P|NFKB2_uc009xxc.2_Silent_p.P101P	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene	101	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(3)	3		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		ACAGTGACCCACCTCGTGCTC	0.602			T	IGH@	B-NHL								G	104156720	A	G	104156720	2	3	11	1	0	0	0	0	0	0	0	1	10376	146	6	3		3	NFKB2	10	104156720	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	36663	104156720	31378027	647	9486											
TMEM180	79847	broad.mit.edu	37	chr10	104230500	104230500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcatgggccgctgctggcGctgtcgttcctggcgttctg	16	12	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:104230500G>A	uc001kvt.2	+	5	549	c.330G>A	c.(328-330)GCG>GCA	p.A110A	TMEM180_uc001kvs.2_Intron|TMEM180_uc010qql.1_Intron|TMEM180_uc010qqm.1_Intron|TMEM180_uc001kvu.2_Silent_p.A110A	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	transmembrane protein 180	110	Helical; (Potential).					integral to membrane				ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CGCTGCTGGCGCTGTCGTTCC	0.682													A	104230500	G	A	104230500	2	1	11	1	0	0	0	0	0	0	0	1	16096	1074	38	1		1	TMEM180	10	104230500	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	73780	104230500	31304247	648	9487											
OBFC1	79991	broad.mit.edu	37	chr10	105659861	105659861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctcttctctgtatgtgCggatactgcctctgactcgg	10	13	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:105659861C>T	uc001kxl.2	-	4	491	c.416G>A	c.(415-417)CGC>CAC	p.R139H	OBFC1_uc001kxm.2_Missense_Mutation_p.R139H|OBFC1_uc001kxn.2_RNA	NM_024928	NP_079204	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold	139	OB.				positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			ovary(1)	1		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TCTGTATGTGCGGATACTGCC	0.453													T	105659861	C	T	105659861	3	4	11	1	0	0	0	0	1	0	0	0	10807	768	27	1	714	1	OBFC1	10	105659861	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1429361	105659861	29874886	649	9488											
ZDHHC6	64429	broad.mit.edu	37	chr10	114194118	114194118	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtccatctccttcagggacCcctgaccacgtaaatacctg	7	15	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:114194118C>A	uc001kzv.2	-	7	1264	c.840G>T	c.(838-840)GGG>GGT	p.G280G	ZDHHC6_uc001kzw.2_Silent_p.G276G|ZDHHC6_uc009xya.1_Silent_p.G280G	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	280						integral to membrane	acyltransferase activity|zinc ion binding				0		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		CTTCAGGGACCCCTGACCACG	0.403													A	114194118	C	A	114194118	2	1	11	1	0	0	0	0	0	0	0	1	17616	610	22	5		5	ZDHHC6	10	114194118	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	8534257	114194118	21340629	650	9489											
ZDHHC6	64429	broad.mit.edu	37	chr10	114200298	114200298	+	Frame_Shift_Del	DEL	A	A	-													attgagatgcttacctggatAaaaaacaacatcccaacagc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:114200297_114200297TA>T	uc001kzv.3	-	4	1100	c.676_676TA>A	c.(676-678)atcfs	p.I226fs	ZDHHC6_uc001kzw.3_Frame_Shift_Del_p.I222fs|ZDHHC6_uc009xya.1_Frame_Shift_Del_p.I226fs	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN	Homo sapiens zinc finger, DHHC-type containing 6 (ZDHHC6), mRNA.	226						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		CTTACCTGGATAAAAAACAAC	0.398													-	114200298	A	-	114200298	7	5	11	1	0	1	0	1	0	0	0	0	17616	359	13	0	594	0	ZDHHC6	10	114200298	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	6180	114200298	21334449	651	9490											
HABP2	3026	broad.mit.edu	37	chr10	115338385	115338385	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgctacctgctctctcggaGgttctgatgactgctatgtt	10	10	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:115338385G>T	uc001lai.3	+	7	672	c.569_splice	c.e7-1	p.G190_splice	HABP2_uc010qrz.1_Splice_Site|HABP2_uc010qry.1_Splice_Site	NM_004132	NP_004123	Q14520	HABP2_HUMAN	hyaluronan binding protein 2 preproprotein						cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		CTCTCTCGGAGGTTCTGATGA	0.517													T	115338385	G	T	115338385	5	4	11	1	0	0	0	0	0	0	1	0	6938	1014	35	5	594	5	HABP2	10	115338385	Splice_Site	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1138087	115338385	20196362	652	9491											
NRAP	4892	broad.mit.edu	37	chr10	115402723	115402723	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattttgagatcttgctcacGttcctgaattgaggtgtttc	9	7	2	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:115402723G>A	uc001laj.2	-	12	1349	c.1185C>T	c.(1183-1185)AAC>AAT	p.N395N	NRAP_uc001lak.2_Intron|NRAP_uc001lal.3_Silent_p.N395N	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	395	Nebulin 9.			N -> D (in Ref. 3; CAD38623).		fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCTTGCTCACGTTCCTGAATT	0.423													A	115402723	G	A	115402723	2	1	11	1	0	0	0	0	0	0	0	1	10638	1136	40	1		1	NRAP	10	115402723	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	64338	115402723	20132024	653	9492											
FGFR2	2263	broad.mit.edu	37	chr10	123276912	123276912	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacgtatattccccagcgtcCtcaaaagttacattccgaat	5	13	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:123276912C>A	uc010qtk.1	-	8	1652	c.1005G>T	c.(1003-1005)GAG>GAT	p.E335D	FGFR2_uc010qtg.1_Intron|FGFR2_uc010qth.1_Missense_Mutation_p.E220D|FGFR2_uc010qti.1_Missense_Mutation_p.E246D|FGFR2_uc010qtj.1_Intron|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Missense_Mutation_p.E220D|FGFR2_uc001lfl.3_Intron|FGFR2_uc001lfm.2_Intron|FGFR2_uc001lfn.3_RNA|FGFR2_uc010qtn.1_Missense_Mutation_p.E354D|FGFR2_uc010qto.1_Missense_Mutation_p.E239D|FGFR2_uc001lfo.1_3'UTR|FGFR2_uc001lfg.3_Translation_Start_Site	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	335	Ig-like C2-type 3.|Extracellular (Potential).				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CCCCAGCGTCCTCAAAAGTTA	0.448		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				A	123276912	C	A	123276912	3	1	11	1	0	0	0	0	1	0	0	0	5866	680	24	5	1608	5	FGFR2	10	123276912	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	7874189	123276912	12257835	654	9493											
DMBT1	1755	broad.mit.edu	37	chr10	124345846	124345846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggagctgcccccacaatgGctggctctcccataactgtg	11	14	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:124345846G>A	uc001lgk.1	+	16	1836	c.1730G>A	c.(1729-1731)GGC>GAC	p.G577D	DMBT1_uc001lgl.1_Missense_Mutation_p.G567D|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.G577D|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	577	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCCCACAATGGCTGGCTCTCC	0.557													A	124345846	G	A	124345846	3	1	11	1	0	0	0	0	1	0	0	0	4577	1203	42	2	1792	2	DMBT1	10	124345846	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1068934	124345846	11188901	655	9494											
DMBT1	1755	broad.mit.edu	37	chr10	124348500	124348500	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggctggtgaatggaggTgacaggtgtcagggccgagt	19	6	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:124348500T>A	uc001lgk.1	+	17	1930	c.1824T>A	c.(1822-1824)GGT>GGA	p.G608G	DMBT1_uc001lgl.1_Silent_p.G598G|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Silent_p.G608G|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	608	SRCR 5.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGAATGGAGGTGACAGGTGTC	0.547													A	124348500	T	A	124348500	2	1	11	1	0	0	0	0	0	0	0	1	4577	1683	59	5		5	DMBT1	10	124348500	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	2654	124348500	11186247	656	9495											
GPR26	2849	broad.mit.edu	37	chr10	125447476	125447476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctccacggtgcccatcGgctcccactggggggtgctg	13	15	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:125447476G>A	uc001lhh.2	+	3	867	c.814G>A	c.(814-816)GGC>AGC	p.G272S		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	272	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GGTGCCCATCGGCTCCCACTG	0.597													A	125447476	G	A	125447476	3	1	11	1	0	0	0	0	1	0	0	0	6684	1116	39	1	824	1	GPR26	10	125447476	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1098976	125447476	10087271	657	9496											
C10orf90	118611	broad.mit.edu	37	chr10	128193584	128193584	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggccctgttttctcttgacTtattctcatcaatcatctgg	6	11	5	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:128193584T>G	uc001ljq.2	-	3	306	c.185A>C	c.(184-186)AAG>ACG	p.K62T	C10orf90_uc001ljp.2_Missense_Mutation_p.K15T|C10orf90_uc010qum.1_Missense_Mutation_p.K159T|C10orf90_uc009yao.2_Missense_Mutation_p.K159T|C10orf90_uc001ljs.1_Missense_Mutation_p.K15T	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	62										ovary(1)|skin(1)	2		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TTCTCTTGACTTATTCTCATC	0.468													G	128193584	T	G	128193584	3	3	11	1	0	0	0	0	1	0	0	0	1623	1609	56	5	1942	5	C10orf90	10	128193584	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	2746108	128193584	7341163	658	9497											
DPYSL4	10570	broad.mit.edu	37	chr10	134006199	134006199	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgtccctgggggcatcAagaccattgacgcccacggc	11	15	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:134006199A>G	uc009ybb.2	+	3	320	c.166A>G	c.(166-168)AAG>GAG	p.K56E		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	56					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TGGGGGCATCAAGACCATTGA	0.582													G	134006199	A	G	134006199	3	3	11	1	0	0	0	0	1	0	0	0	4749	131	5	3	176	3	DPYSL4	10	134006199	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	5812615	134006199	1528548	659	9498											
KNDC1	85442	broad.mit.edu	37	chr10	135013091	135013091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaggtggtcaacgggcaggCgtcaccctccccaaggtggg	15	12	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:135013091C>T	uc001llz.1	+	15	2889	c.2888C>T	c.(2887-2889)GCG>GTG	p.A963V	KNDC1_uc001lma.1_Missense_Mutation_p.A898V|KNDC1_uc001lmb.1_Missense_Mutation_p.A375V	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	963					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AACGGGCAGGCGTCACCCTCC	0.617													T	135013091	C	T	135013091	3	4	11	1	0	0	0	0	1	0	0	0	8426	768	27	1	2946	1	KNDC1	10	135013091	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1006892	135013091	521656	660	9499											
OR52A4	390053	broad.mit.edu	37	chr11	5142251	5142251	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagcttcacaagggccacGcgttcacagtaagtgtggta	12	10	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:5142251G>A	uc001lzz.1	-	1	558	c.558C>T	c.(556-558)CGC>CGT	p.R186R		NM_001005222	NP_001005222			olfactory receptor, family 52, subfamily A,											ovary(2)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAAGGGCCACGCGTTCACAGT	0.418													A	5142251	G	A	5142251	2	1	11	1	0	0	0	0	0	0	0	1	11109	1074	38	1		1	OR52A4	11	5142251	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08		5142251	129864265	661	9500											
OR51B5	282763	broad.mit.edu	37	chr11	5364322	5364322	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatcccctcatcagaactcCcagcccaatcttcactactc	2	18	4	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:5364322C>A	uc001map.1	-	1	433	c.433G>T	c.(433-435)GGA>TGA	p.G145*	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Nonsense_Mutation_p.G145*	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCAGAACTCCCAGCCCAATC	0.448													A	5364322	C	A	5364322	4	1	11	1	0	0	0	0	0	1	0	0	11091	632	22	5	509	5	OR51B5	11	5364322	Nonsense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	222071	5364322	129642194	662	9501											
TRIM5	85363	broad.mit.edu	37	chr11	5701080	5701080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccagcaaatgaccttccCgtcctcctgacagaagagta	8	13	0	4	rs146215995		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:5701080C>T	uc001mbm.1	-	2	585	c.328G>A	c.(328-330)GGG>AGG	p.G110R	TRIM5_uc001mbq.1_Missense_Mutation_p.G110R|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.G110R|TRIM5_uc001mbo.2_Missense_Mutation_p.G110R|TRIM5_uc001mbp.2_Missense_Mutation_p.G110R	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	110	B box-type.		G -> E.		interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		ATGACCTTCCCGTCCTCCTGA	0.547													T	5701080	C	T	5701080	3	4	11	1	0	0	0	0	1	0	0	0	16522	652	23	1	1420	1	TRIM5	11	5701080	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	336758	5701080	129305436	663	9502											
OR52N2	390077	broad.mit.edu	37	chr11	5842336	5842336	+	Frame_Shift_Del	DEL	T	T	-													gtgatcacctatgttgctgcTtttttcacttttttcactca							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:5842335_5842335CT>C	uc010qzp.2	+	0	770	c.770_770CT>C	c.(769-771)gctfs	p.A257fs	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A256A(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGTTGCTGCTTTTTTCACT	0.453													-	5842336	T	-	5842336	7	5	11	1	0	1	0	1	0	0	0	0	11128	1596	56	0	773	0	OR52N2	11	5842336	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	141256	5842336	129164180	664	9503											
KCNJ11	3767	broad.mit.edu	37	chr11	17408965	17408965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccacctcgccctcggggCtggtggtcttgcgtaccacc	12	17	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:17408965C>T	uc001mna.2	-	1	1242	c.674G>A	c.(673-675)AGC>AAC	p.S225N	KCNJ11_uc001mnb.3_Missense_Mutation_p.S138N	NM_000525	NP_000516	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel J11	225						integral to membrane	ATP-activated inward rectifier potassium channel activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		GCCCTCGGGGCTGGTGGTCTT	0.637											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	17408965	C	T	17408965	3	4	11	1	0	0	0	0	1	0	0	0	8045	797	28	2	502	2	KCNJ11	11	17408965	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	11566629	17408965	117597551	665	9504											
KCNA4	3739	broad.mit.edu	37	chr11	30033740	30033740	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgaactgtagccgccaccGccctcatcctgaggcagcag	10	16	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:30033740G>A	uc001msk.2	-	2	1638	c.486C>T	c.(484-486)GGC>GGT	p.G162G		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	162	Poly-Gly.					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						AGCCGCCACCGCCCTCATCCT	0.438													A	30033740	G	A	30033740	2	1	11	1	0	0	0	0	0	0	0	1	8005	1074	38	1		1	KCNA4	11	30033740	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	12624775	30033740	104972776	666	9505											
CCDC73	493860	broad.mit.edu	37	chr11	32624508	32624508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagaagtatttttagtcGtcttgattgcctgcaaatgg	9	8	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:32624508G>A	uc001mtv.2	-	18	3133	c.3089C>T	c.(3088-3090)ACG>ATG	p.T1030M		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	1030										ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)					ATTTTTAGTCGTCTTGATTGC	0.348													A	32624508	G	A	32624508	3	1	11	1	0	0	0	0	1	0	0	0	2846	1145	40	1	154	1	CCDC73	11	32624508	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2590768	32624508	102382008	667	9506											
TCP11L1	55346	broad.mit.edu	37	chr11	33079684	33079684	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaaatagtgccccttttcAggtatggaaatatgttaatc	9	6	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:33079684A>G	uc001mud.2	+	5	1037	c.637A>G	c.(637-639)AGA>GGA	p.R213G	TCP11L1_uc009yju.2_Missense_Mutation_p.R28G|TCP11L1_uc010rei.1_Missense_Mutation_p.R213G|TCP11L1_uc001mue.2_Missense_Mutation_p.R213G|TCP11L1_uc001muf.1_5'Flank	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	t-complex 11 (mouse) like 1	213											0						GCCCCTTTTCAGGTATGGAAA	0.313													G	33079684	A	G	33079684	3	3	11	1	0	0	0	0	1	0	0	0	15711	202	7	3	651	3	TCP11L1	11	33079684	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	455176	33079684	101926832	668	9507											
LMO2	4005	broad.mit.edu	37	chr11	33881074	33881074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattgtcatctcataggcaCgaatccgcttgtcacaggat	9	11	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:33881074C>T	uc001mve.2	-	3	744	c.305G>A	c.(304-306)CGT>CAT	p.R102H	LMO2_uc001mvc.2_Missense_Mutation_p.R95H|LMO2_uc001mvd.2_Missense_Mutation_p.R95H|LMO2_uc010rel.1_Missense_Mutation_p.R102H|LMO2_uc010rem.1_Missense_Mutation_p.R171H	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN	LIM domain only 2 isoform 2	102	LIM zinc-binding 2.				multicellular organismal development	nucleus	protein binding|zinc ion binding			lung(1)	1						CTCATAGGCACGAATCCGCTT	0.478			T	TRD@	T-ALL								T	33881074	C	T	33881074	3	4	11	1	0	0	0	0	1	0	0	0	8852	536	19	1	175	1	LMO2	11	33881074	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	801390	33881074	101125442	669	9508											
RAG1	5896	broad.mit.edu	37	chr11	36595310	36595310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagagctacttcctggccGgacctcattgccaaggtttt	10	11	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:36595310G>A	uc001mwu.3	+	2	580	c.456G>A	c.(454-456)CCG>CCA	p.P152P	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	152	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				CTTCCTGGCCGGACCTCATTG	0.507									Familial_Hemophagocytic_Lymphohistiocytosis				A	36595310	G	A	36595310	2	1	11	1	0	0	0	0	0	0	0	1	13003	1103	39	1		1	RAG1	11	36595310	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2714236	36595310	98411206	670	9509											
ALKBH3	221120	broad.mit.edu	37	chr11	43923097	43923097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcgcacactaaagaaccGcattgaagagaacactggcc	10	12	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:43923097G>A	uc001mxs.2	+	8	934	c.491G>A	c.(490-492)CGC>CAC	p.R164H	ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_Missense_Mutation_p.R17H	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN	AlkB homolog 3	164					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)	CTAAAGAACCGCATTGAAGAG	0.493								Direct_reversal_of_damage					A	43923097	G	A	43923097	3	1	11	1	0	0	0	0	1	0	0	0	528	1087	38	1	517	1	ALKBH3	11	43923097	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	7327787	43923097	91083419	671	9510											
ACCSL	390110	broad.mit.edu	37	chr11	44069844	44069844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctcctacagtctggggcCgcgagtggcctggagctcca	13	14	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:44069844C>T	uc001mxw.1	+	1	314	c.258C>T	c.(256-258)GCC>GCT	p.A86A	ACCSL_uc009ykr.2_5'UTR	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	86							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						AGTCTGGGGCCGCGAGTGGCC	0.577													T	44069844	C	T	44069844	2	4	11	1	0	0	0	0	0	0	0	1	134	639	23	1		1	ACCSL	11	44069844	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	146747	44069844	90936672	672	9511											
DDB2	1643	broad.mit.edu	37	chr11	47238526	47238526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactcaccccagcactgtgGctgtgggttccaaaggggga	13	12	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:47238526G>A	uc001neb.2	+	3	577	c.382G>A	c.(382-384)GCT>ACT	p.A128T	DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Intron|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Missense_Mutation_p.A128T|DDB2_uc001nef.2_Missense_Mutation_p.A114T|DDB2_uc001neg.2_5'UTR|DDB2_uc001neh.2_RNA	NM_000107	NP_000098	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2	128	WD 1.				nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			kidney(2)|ovary(1)	3						CAGCACTGTGGCTGTGGGTTC	0.532			Mis|N			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				A	47238526	G	A	47238526	3	1	11	1	0	0	0	0	1	0	0	0	4324	1203	42	2	392	2	DDB2	11	47238526	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3168682	47238526	87767990	673	9512											
MYBPC3	4607	broad.mit.edu	37	chr11	47363661	47363661	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaccgcctggtcctttgcGcccaccatcaggtctgcgat	9	16	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:47363661G>A	uc001nfa.3	-	17	1726	c.1671C>T	c.(1669-1671)GGC>GGT	p.G557G	MYBPC3_uc010rhl.1_RNA	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	556	Ig-like C2-type 4.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		GGTCCTTTGCGCCCACCATCA	0.582													A	47363661	G	A	47363661	2	1	11	1	0	0	0	0	0	0	0	1	10013	1074	38	1		1	MYBPC3	11	47363661	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	125135	47363661	87642855	674	9513											
SPI1	6688	broad.mit.edu	37	chr11	47377075	47377075	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtccaacaggaactggtaCaggcggatcttcttcttgct	11	10	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:47377075C>A	uc001nfc.1	-	5	739	c.516G>T	c.(514-516)CTG>CTT	p.L172L	MYBPC3_uc001nfa.3_5'Flank|SPI1_uc001nfb.1_Silent_p.L173L|SLC39A13_uc001nfd.2_Intron	NM_003120	NP_003111	P17947	SPI1_HUMAN	hematopoietic transcription factor PU.1 isoform	172	ETS.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)	2				Lung(87;0.0967)		GGAACTGGTACAGGCGGATCT	0.667													A	47377075	C	A	47377075	2	1	11	1	0	0	0	0	0	0	0	1	15048	465	17	5		5	SPI1	11	47377075	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	13414	47377075	87629441	675	9514											
PSMC3	5702	broad.mit.edu	37	chr11	47446697	47446697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacgttggagacaaggtacGgcagggtcttgttcactttg	14	7	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:47446697G>A	uc001nfh.2	-	3	454	c.260C>T	c.(259-261)CCG>CTG	p.P87L	PSMC3_uc009ylr.1_Intron	NM_002804	NP_002795	P17980	PRS6A_HUMAN	proteasome 26S ATPase subunit 3	87					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			ovary(4)	4				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GACAAGGTACGGCAGGGTCTT	0.512													A	47446697	G	A	47446697	3	1	11	1	0	0	0	0	1	0	0	0	12687	1116	39	1	1099	1	PSMC3	11	47446697	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	69622	47446697	87559819	676	9515											
OR4S1	256148	broad.mit.edu	37	chr11	48328289	48328289	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttgtgggcccaatgagaTagacaacttcttctgtgatg	10	7	2	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:48328289T>C	uc010rhu.1	+	1	515	c.515T>C	c.(514-516)ATA>ACA	p.I172T		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S,	172	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CCCAATGAGATAGACAACTTC	0.547													C	48328289	T	C	48328289	3	2	11	1	0	0	0	0	1	0	0	0	11082	1406	49	3	517	3	OR4S1	11	48328289	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	881592	48328289	86678227	677	9516											
OR4C12	283093	broad.mit.edu	37	chr11	50003875	50003875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggaagaagtacatgggggAgctcagagcctggctggtgg	18	7	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:50003875A>G	uc010ria.1	-	1	163	c.163T>C	c.(163-165)TCC>CCC	p.S55P		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	55	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						TACATGGGGGAGCTCAGAGCC	0.423													G	50003875	A	G	50003875	3	3	11	1	0	0	0	0	1	0	0	0	11046	304	11	3	770	3	OR4C12	11	50003875	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	1675586	50003875	85002641	678	9517											
OR4C46	119749	broad.mit.edu	37	chr11	51515486	51515486	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctatctctcctttattgatGcctgctattcctctgtcaat	4	13	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:51515486G>T	uc010ric.1	+	1	205	c.205G>T	c.(205-207)GCC>TCC	p.A69S		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	69	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CTTTATTGATGCCTGCTATTC	0.488													T	51515486	G	T	51515486	3	4	11	1	0	0	0	0	1	0	0	0	11051	1319	46	5	207	5	OR4C46	11	51515486	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1511611	51515486	83491030	679	9518											
OR5D18	219438	broad.mit.edu	37	chr11	55587765	55587765	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgttctcacatcttatgcGttcattgttgtaaccatcct	5	11	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:55587765G>A	uc010rin.1	+	1	660	c.660G>A	c.(658-660)GCG>GCA	p.A220A		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	220	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				CATCTTATGCGTTCATTGTTG	0.483													A	55587765	G	A	55587765	2	1	11	1	0	0	0	0	0	0	0	1	11157	1132	40	1		1	OR5D18	11	55587765	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	4072279	55587765	79418751	680	9519											
OR9Q2	219957	broad.mit.edu	37	chr11	57958150	57958150	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caccccgatgtacttcttccTcagccacctttccttggtgg	7	16	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:57958150T>G	uc010rka.1	+	1	188	c.188T>G	c.(187-189)CTC>CGC	p.L63R		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q,	63	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)|central_nervous_system(1)	4		Breast(21;0.0589)				TACTTCTTCCTCAGCCACCTT	0.547													G	57958150	T	G	57958150	3	3	11	1	0	0	0	0	1	0	0	0	11256	1551	54	5	190	5	OR9Q2	11	57958150	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	2370385	57958150	77048366	681	9520											
OR10W1	81341	broad.mit.edu	37	chr11	58034831	58034831	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggcacatcacaaaagaagTgctcaatgccctgagcctgg	11	11	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:58034831T>C	uc001nmq.1	-	1	902	c.500A>G	c.(499-501)CAC>CGC	p.H167R		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)				ACAAAAGAAGTGCTCAATGCC	0.507													C	58034831	T	C	58034831	3	2	11	1	0	0	0	0	1	0	0	0	10921	1696	59	3	421	3	OR10W1	11	58034831	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	76681	58034831	76971685	682	9521											
GLYATL1	92292	broad.mit.edu	37	chr11	58722275	58722275	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatggattcatacacaaaCgtatatcgtatgttctccaa	6	9	2	0	rs142174775		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:58722275C>T	uc001nnf.2	+	6	595	c.219C>T	c.(217-219)AAC>AAT	p.N73N	uc001nng.1_Intron|GLYATL1_uc001nnh.1_Silent_p.N104N|GLYATL1_uc001nni.1_Silent_p.N73N|GLYATL1_uc001nnj.1_Silent_p.N73N			Q969I3	GLYL1_HUMAN	SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	73						mitochondrion	glycine N-acyltransferase activity			ovary(1)	1					Glycine(DB00145)	CATACACAAACGTATATCGTA	0.378													T	58722275	C	T	58722275	2	4	11	1	0	0	0	0	0	0	0	1	6480	535	19	1		1	GLYATL1	11	58722275	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	687444	58722275	76284241	683	9522											
FAM111A	63901	broad.mit.edu	37	chr11	58920216	58920216	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctcagtgactcagttgggTacttattctgggacagtgca	12	8	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:58920216T>C	uc010rkp.1	+	5	1302	c.1075T>C	c.(1075-1077)TAC>CAC	p.Y359H	FAM111A_uc010rkq.1_Missense_Mutation_p.Y359H|FAM111A_uc010rkr.1_Missense_Mutation_p.Y359H|FAM111A_uc001nno.2_Missense_Mutation_p.Y359H|FAM111A_uc001nnp.2_Missense_Mutation_p.Y359H|FAM111A_uc001nnq.2_Missense_Mutation_p.Y359H	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN	hypothetical protein LOC63901	359					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_epithelial(135;0.139)				CTCAGTTGGGTACTTATTCTG	0.373													C	58920216	T	C	58920216	3	2	11	1	0	0	0	0	1	0	0	0	5399	1638	57	3	1081	3	FAM111A	11	58920216	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	197941	58920216	76086300	684	9523											
OR4D9	390199	broad.mit.edu	37	chr11	59282557	59282557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaatctcaccttcatacgCccatgtacttcctgctccgc	6	16	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:59282557C>T	uc010rkv.1	+	1	172	c.172C>T	c.(172-174)CCC>TCC	p.P58S		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D,	58	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CCTTCATACGCCCATGTACTT	0.433													T	59282557	C	T	59282557	3	4	11	1	0	0	0	0	1	0	0	0	11059	739	26	2	174	2	OR4D9	11	59282557	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	362341	59282557	75723959	685	9524											
MS4A4A	51338	broad.mit.edu	37	chr11	60059718	60059718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttttctgctgccatgaCaaccatgcaaggaatggaac	8	12	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:60059718C>T	uc001noz.2	+	2	72	c.62C>T	c.(61-63)ACA>ATA	p.T21I	MS4A4A_uc001npa.2_Missense_Mutation_p.T2I|MS4A4A_uc001npb.2_Missense_Mutation_p.T2I|MS4A4A_uc001npc.2_Missense_Mutation_p.T2I	NM_148975	NP_683876	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member	21	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						GCTGCCATGACAACCATGCAA	0.493													T	60059718	C	T	60059718	3	4	11	1	0	0	0	0	1	0	0	0	9862	478	17	4	68	4	MS4A4A	11	60059718	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	777161	60059718	74946798	686	9525											
AHNAK	79026	broad.mit.edu	37	chr11	62297304	62297304	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggcaggttcatatccacctCtgggccctctcctttaaagc	9	14	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:62297304C>A	uc001ntl.2	-	5	4885	c.4585G>T	c.(4585-4587)GAG>TAG	p.E1529*	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1529					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				ATATCCACCTCTGGGCCCTCT	0.522													A	62297304	C	A	62297304	4	1	11	1	0	0	0	0	0	1	0	0	414	922	32	5	13207	5	AHNAK	11	62297304	Nonsense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2237586	62297304	72709212	687	9526											
EEF1G	1937	broad.mit.edu	37	chr11	62338457	62338457	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttatagagccacaacaGggtgcagacaactgtgatgt	11	9	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:62338457G>T	uc001ntm.1	-	5	648	c.502C>A	c.(502-504)CTG>ATG	p.L168M	EEF1G_uc010rlw.1_Missense_Mutation_p.L218M|EEF1G_uc001ntn.1_Missense_Mutation_p.L48M	NM_001404	NP_001395	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1	168	GST C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity				0						AGCCACAACAGGGTGCAGACA	0.483													T	62338457	G	T	62338457	3	4	11	1	0	0	0	0	1	0	0	0	4928	991	35	5	835	5	EEF1G	11	62338457	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	41153	62338457	72668059	688	9527											
GANAB	23193	broad.mit.edu	37	chr11	62407174	62407174	+	Frame_Shift_Del	DEL	A	A	-													taatccccaggcagacccctAaaaaagccagtaccaaagac							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:62407173_62407173TA>T	uc001nua.3	-	1	102	c.69_69TA>A	c.(67-69)ttafs	p.L23fs	GANAB_uc001nub.3_Frame_Shift_Del_p.L23fs|GANAB_uc001nuc.3_5'UTR|GANAB_uc010rma.2_Intron|GANAB_uc010rmb.2_Intron	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	23					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GGCAGACCCCTAAAAAAGCCA	0.478													-	62407174	A	-	62407174	7	5	11	1	0	1	0	1	0	0	0	0	6233	372	13	0	2928	0	GANAB	11	62407174	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	68717	62407174	72599342	689	9528											
SLC22A6	9356	broad.mit.edu	37	chr11	62744336	62744336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctggtgctcttgttgctgtCgcgtctgtttccctttcctg	10	12	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:62744336C>T	uc001nwk.2	-	10	1929	c.1622G>A	c.(1621-1623)CGA>CAA	p.R541Q	SLC22A6_uc001nwl.2_Missense_Mutation_p.R484Q|SLC22A6_uc001nwj.2_Missense_Mutation_p.R528Q|SLC22A6_uc001nwm.2_Missense_Mutation_p.R497Q	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	solute carrier family 22 member 6 isoform a	541	Cytoplasmic (Potential).				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding				0						TTGTTGCTGTCGCGTCTGTTT	0.582													T	62744336	C	T	62744336	3	4	11	1	0	0	0	0	1	0	0	0	14458	884	31	1	73	1	SLC22A6	11	62744336	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	337162	62744336	72262180	690	9529											
CDC42BPG	55561	broad.mit.edu	37	chr11	64595231	64595231	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgatggagttctcgctgaacActgtcaggtagggggccgca	15	10	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:64595231A>G	uc001obs.3	-	31	3992	c.3992T>C	c.(3991-3993)GTG>GCG	p.V1331A		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1331	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						CTCGCTGAACACTGTCAGGTA	0.622													G	64595231	A	G	64595231	3	3	11	1	0	0	0	0	1	0	0	0	3074	159	6	3	691	3	CDC42BPG	11	64595231	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	1850895	64595231	70411285	691	9530											
BATF2	116071	broad.mit.edu	37	chr11	64757176	64757176	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcacaatccatggggcAcaggcgctcatgcacgtgca	14	12	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:64757176A>G	uc001ocf.1	-	3	381	c.250T>C	c.(250-252)TGC>CGC	p.C84R	BATF2_uc001oce.1_5'UTR	NM_138456	NP_612465	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor,	84						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TCCATGGGGCACAGGCGCTCA	0.667													G	64757176	A	G	64757176	3	3	11	1	0	0	0	0	1	0	0	0	1326	159	6	3	578	3	BATF2	11	64757176	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	161945	64757176	70249340	692	9531											
LTBP3	4054	broad.mit.edu	37	chr11	65319552	65319552	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagggaaaagtcactctcGccctgaatggtgagcgtctg	12	9	3	2	rs111330939		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:65319552G>A	uc001oej.2	-	8	1691	c.1422C>T	c.(1420-1422)GGC>GGT	p.G474G	LTBP3_uc001oeh.2_5'Flank|LTBP3_uc010roi.1_Silent_p.G357G|LTBP3_uc001oei.2_Silent_p.G474G|LTBP3_uc010roj.1_Silent_p.G175G|LTBP3_uc010rok.1_Silent_p.G385G	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	474						extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						AGTCACTCTCGCCCTGAATGG	0.597											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	65319552	G	A	65319552	2	1	11	1	0	0	0	0	0	0	0	1	9075	1074	38	1		1	LTBP3	11	65319552	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	562376	65319552	69686964	693	9532											
EHBP1L1	254102	broad.mit.edu	37	chr11	65347891	65347891	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgactttgctgagagtgAtgaagatgaggctcatggcc	15	6	1	6			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:65347891A>G	uc001oeo.3	+	6	840	c.575A>G	c.(574-576)GAT>GGT	p.D192G	EHBP1L1_uc001oep.1_5'Flank	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	192										central_nervous_system(1)	1						GCTGAGAGTGATGAAGATGAG	0.597													G	65347891	A	G	65347891	3	3	11	1	0	0	0	0	1	0	0	0	4976	333	12	3	597	3	EHBP1L1	11	65347891	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	28339	65347891	69658625	694	9533											
FIBP	9158	broad.mit.edu	37	chr11	65652091	65652091	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatctttattgtgggtcaGcttggcggccacgttcacca	11	11	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:65652091G>A	uc001ogd.2	-	8	998	c.877C>T	c.(877-879)CTG>TTG	p.L293L	FIBP_uc009yqu.2_Silent_p.L283L|FIBP_uc001oge.2_Silent_p.L286L	NM_198897	NP_942600	O43427	FIBP_HUMAN	FGF intracellular binding protein isoform a	293					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.166)		TTGTGGGTCAGCTTGGCGGCC	0.582											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	65652091	G	A	65652091	2	1	11	1	0	0	0	0	0	0	0	1	5886	962	34	2		2	FIBP	11	65652091	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	304200	65652091	69354425	695	9534											
CATSPER1	117144	broad.mit.edu	37	chr11	65792929	65792929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtaactggaatgatacgCgccgtggtggtcttggtgct	16	7	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:65792929C>T	uc001ogt.2	-	1	1060	c.922G>A	c.(922-924)GCG>ACG	p.A308T		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	308	His-rich.|Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2						GAATGATACGCGCCgtggtgg	0.308													T	65792929	C	T	65792929	3	4	11	1	0	0	0	0	1	0	0	0	2687	768	27	1	1468	1	CATSPER1	11	65792929	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	140838	65792929	69213587	696	9535											
RAB1B	81876	broad.mit.edu	37	chr11	66039698	66039698	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatccgaaccatcgagctggAtggcaaaactatcaaacttc	8	11	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:66039698A>G	uc001ohf.2	+	3	253	c.158A>G	c.(157-159)GAT>GGT	p.D53G	uc001ohg.1_RNA	NM_030981	NP_112243	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	53					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding				0						ATCGAGCTGGATGGCAAAACT	0.512													G	66039698	A	G	66039698	3	3	11	1	0	0	0	0	1	0	0	0	12906	333	12	3	168	3	RAB1B	11	66039698	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	246769	66039698	68966818	697	9536											
BRMS1	25855	broad.mit.edu	37	chr11	66109071	66109071	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacactcgctgcggcgtcGctcatagtcctcatcatcca	8	16	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:66109071G>A	uc001ohp.1	-	3	310	c.163C>T	c.(163-165)CGA>TGA	p.R55*	BRMS1_uc001oho.1_Nonsense_Mutation_p.R55*|BRMS1_uc009yre.2_5'Flank	NM_015399	NP_056214	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1 isoform 1	55					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding				0						CTGCGGCGTCGCTCATAGTCC	0.527													A	66109071	G	A	66109071	4	1	11	1	0	0	0	0	0	1	0	0	1516	1095	38	1	753	1	BRMS1	11	66109071	Nonsense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	69373	66109071	68897445	698	9537											
RBM4B	83759	broad.mit.edu	37	chr11	66436136	66436136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtccacatactgctcccGttcataccgggccatgtcat	8	15	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:66436136G>A	uc001oja.2	-	2	1708	c.1039C>T	c.(1039-1041)CGG>TGG	p.R347W	RBM4B_uc001ojb.2_Missense_Mutation_p.R347W	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	347	Interaction with TNPO3 (By similarity).				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding				0						TACTGCTCCCGTTCATACCGG	0.502													A	66436136	G	A	66436136	3	1	11	1	0	0	0	0	1	0	0	0	13142	1144	40	1	44	1	RBM4B	11	66436136	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	327065	66436136	68570380	699	9538											
CORO1B	57175	broad.mit.edu	37	chr11	67208646	67208646	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcggctgaagcctgtggTgaacaccttgccatctgcca	10	13	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:67208646T>C	uc001olj.1	-	5	742	c.706A>G	c.(706-708)ACC>GCC	p.T236A	CORO1B_uc009yrs.1_RNA|CORO1B_uc001olk.1_Missense_Mutation_p.T236A|CORO1B_uc009yrt.1_RNA|CORO1B_uc009yru.1_RNA|CORO1B_uc001oll.1_Missense_Mutation_p.T236A|CORO1B_uc010rps.1_Missense_Mutation_p.T236A	NM_020441	NP_065174	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	236	WD 4.				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			large_intestine(1)|ovary(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AAGCCTGTGGTGAACACCTTG	0.672													C	67208646	T	C	67208646	3	2	11	1	0	0	0	0	1	0	0	0	3754	1696	59	3	787	3	CORO1B	11	67208646	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	772510	67208646	67797870	700	9539											
GPR152	390212	broad.mit.edu	37	chr11	67218801	67218801	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcacgtggggcctgcgccCggggccgcctctggcggggt	18	16	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:67218801C>T	uc001olm.2	-	1	1400	c.1395G>A	c.(1393-1395)CCG>CCA	p.P465P	uc009yrw.1_5'Flank|CABP4_uc001oln.2_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	465	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGCCTGCGCCCGGGGCCGCCT	0.682													T	67218801	C	T	67218801	2	4	11	1	0	0	0	0	0	0	0	1	6658	639	23	1		1	GPR152	11	67218801	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	10155	67218801	67787715	701	9540											
ANO1	55107	broad.mit.edu	37	chr11	70007826	70007826	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccatcttttacgtggcgTtcttcaaaggccggtaggga	11	12	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:70007826T>C	uc001opj.2	+	18	2184	c.1879T>C	c.(1879-1881)TTC>CTC	p.F627L	ANO1_uc001opk.1_Missense_Mutation_p.F569L|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.F336L	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	627	Helical; (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						TTACGTGGCGTTCTTCAAAGG	0.552													C	70007826	T	C	70007826	3	2	11	1	0	0	0	0	1	0	0	0	695	1725	60	3	1949	3	ANO1	11	70007826	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	2789025	70007826	64998690	702	9541											
RNF121	55298	broad.mit.edu	37	chr11	71705854	71705854	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atctttgtggacgtcagtgaAgaggggatcattgagaacac	13	6	3	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:71705854A>C	uc001ora.2	+	7	1057	c.717A>C	c.(715-717)GAA>GAC	p.E239D	RNF121_uc001ord.2_Missense_Mutation_p.E158D|RNF121_uc001orb.2_Missense_Mutation_p.E207D|RNF121_uc009yst.2_Intron	NM_018320	NP_060790	Q9H920	RN121_HUMAN	ring finger protein 121	239	RING-type; atypical.					integral to membrane	zinc ion binding				0						ACGTCAGTGAAGAGGGGATCA	0.517													C	71705854	A	C	71705854	3	2	11	1	0	0	0	0	1	0	0	0	13431	69	3	5	743	5	RNF121	11	71705854	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	1698028	71705854	63300662	703	9542											
C11orf51	25906	broad.mit.edu	37	chr11	71822201	71822201	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgctagctgctcactcAcccaggcctgatgctgctgt	11	14	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:71822201A>G	uc001orw.2	-	3	342	c.120_splice	c.e3+1	p.W40_splice	C11orf51_uc009ytc.1_Intron|C11orf51_uc001orv.2_Splice_Site_p.W40_splice	NM_014042	NP_054761	P60006	CK051_HUMAN	hypothetical protein LOC25906							intracellular					0						CTGCTCACTCACCCAGGCCTG	0.557													G	71822201	A	G	71822201	5	3	11	1	0	0	0	0	0	0	1	0	1646	173	6	3	259	3	C11orf51	11	71822201	Splice_Site	SNP	A	TCGA-BR-4256-01A-01D-1126-08	116347	71822201	63184315	704	9543											
CLPB	81570	broad.mit.edu	37	chr11	72013356	72013356	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatcactcacctcgtgtcGctcctggaactcggacatgt	9	14	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:72013356G>A	uc001osj.2	-	11	1299	c.1249C>T	c.(1249-1251)CGA>TGA	p.R417*	CLPB_uc010rqx.1_Nonsense_Mutation_p.R372*|CLPB_uc010rqy.1_Nonsense_Mutation_p.R358*|CLPB_uc001osk.2_Nonsense_Mutation_p.R387*|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Nonsense_Mutation_p.R216*|CLPB_uc001osi.2_Nonsense_Mutation_p.R25*	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B	417					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1						ACCTCGTGTCGCTCCTGGAAC	0.522													A	72013356	G	A	72013356	4	1	11	1	0	0	0	0	0	1	0	0	3551	1095	38	1	902	1	CLPB	11	72013356	Nonsense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	191155	72013356	62993160	705	9544											
CTSC	1075	broad.mit.edu	37	chr11	88027550	88027550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtactcagaggagtaataaCgaaagcagtcttccttcatt	9	8	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:88027550C>T	uc001pck.3	-	7	1117	c.1016G>A	c.(1015-1017)CGT>CAT	p.R339H	CTSC_uc001pcl.3_Missense_Mutation_p.R191H	NM_001814	NP_001805	P53634	CATC_HUMAN	cathepsin C isoform a preproprotein	339			R -> C (in PLS).		immune response	lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGAGTAATAACGAAAGCAGTC	0.483													T	88027550	C	T	88027550	3	4	11	1	0	0	0	0	1	0	0	0	4031	536	19	1	379	1	CTSC	11	88027550	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	16014194	88027550	46978966	706	9545											
FAT3	120114	broad.mit.edu	37	chr11	92430571	92430571	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgattacaacaacttcaaGgaaattggatcgagaacagc	8	8	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:92430571G>T	uc001pdj.3	+	3	3646	c.3629G>T	c.(3628-3630)AGG>ATG	p.R1210M		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1210	Cadherin 11.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACAACTTCAAGGAAATTGGAT	0.383										TCGA Ovarian(4;0.039)			T	92430571	G	T	92430571	3	4	11	1	0	0	0	0	1	0	0	0	5691	1000	35	5	3639	5	FAT3	11	92430571	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	4403021	92430571	42575945	707	9546											
MAML2	84441	broad.mit.edu	37	chr11	95712275	95712275	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcaaaagctaagtcactgCtgtggtcagttccttgaaaa	9	8	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:95712275C>A	uc001pfw.1	-	5	4593	c.3308G>T	c.(3307-3309)AGC>ATC	p.S1103I		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	1103					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TAAGTCACTGCTGTGGTCAGT	0.473			T	MECT1|CRTC3	salivary gland mucoepidermoid								A	95712275	C	A	95712275	3	1	11	1	0	0	0	0	1	0	0	0	9206	797	28	5	166	5	MAML2	11	95712275	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3281704	95712275	39294241	708	9547											
MMP1	4312	broad.mit.edu	37	chr11	102667472	102667472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcctggttgaaaagcaTgagcaagatttcctccaggt	12	9	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:102667472T>C	uc001phi.2	-	4	691	c.548A>G	c.(547-549)CAT>CGT	p.H183R	uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.H117R	NM_002421	NP_002412	P03956	MMP1_HUMAN	matrix metalloproteinase 1 isoform 1	183	Metalloprotease.	Zinc 1.			blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)|lung(1)	4	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		TTGAAAAGCATGAGCAAGATT	0.423													C	102667472	T	C	102667472	3	2	11	1	0	0	0	0	1	0	0	0	9648	1464	51	3	889	3	MMP1	11	102667472	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	6955197	102667472	32339044	709	9548											
GUCY1A2	2977	broad.mit.edu	37	chr11	106810870	106810870	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catatattaaagaactcttcAccaaatcttttttgaatttc	2	8	3	2	rs61736490		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:106810870A>G	uc001pjg.1	-	4	912	c.522T>C	c.(520-522)GGT>GGC	p.G174G	GUCY1A2_uc010rvo.1_Silent_p.G174G|GUCY1A2_uc009yxn.1_Silent_p.G174G	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	174					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AGAACTCTTCACCAAATCTTT	0.338													G	106810870	A	G	106810870	2	3	11	1	0	0	0	0	0	0	0	1	6893	146	6	3		3	GUCY1A2	11	106810870	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	4143398	106810870	28195646	710	9549											
ZC3H12C	85463	broad.mit.edu	37	chr11	110030105	110030105	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagctggcttttgagtcGgacggtatcattgtgtccaa	13	7	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:110030105G>A	uc009yxw.2	+	4	1089	c.1038G>A	c.(1036-1038)TCG>TCA	p.S346S	ZC3H12C_uc010rwc.1_Silent_p.S347S|ZC3H12C_uc010rwd.1_Silent_p.S347S|ZC3H12C_uc001pkr.3_Silent_p.S315S|ZC3H12C_uc001pkq.2_Silent_p.S315S	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	346							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CTTTTGAGTCGGACGGTATCA	0.463													A	110030105	G	A	110030105	2	1	11	1	0	0	0	0	0	0	0	1	17560	1103	39	1		1	ZC3H12C	11	110030105	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3219235	110030105	24976411	711	9550											
ZBTB16	7704	broad.mit.edu	37	chr11	113934373	113934373	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgagtacctggaggaacaGtgcctgaagatgctggagac	14	8	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:113934373G>A	uc001pop.2	+	2	615	c.351G>A	c.(349-351)CAG>CAA	p.Q117Q	ZBTB16_uc001poo.1_Silent_p.Q117Q|ZBTB16_uc001poq.2_Silent_p.Q117Q	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	117					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TGGAGGAACAGTGCCTGAAGA	0.602													A	113934373	G	A	113934373	2	1	11	1	0	0	0	0	0	0	0	1	17523	1020	36	4		4	ZBTB16	11	113934373	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3904268	113934373	21072143	712	9551											
ZBTB16	7704	broad.mit.edu	37	chr11	114121133	114121133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgagaacgcacaacggCgcctcgccctaccagtgcac	9	18	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:114121133C>T	uc001pop.2	+	7	2142	c.1878C>T	c.(1876-1878)GGC>GGT	p.G626G	ZBTB16_uc001poq.2_Silent_p.G626G	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	626					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CGCACAACGGCGCCTCGCCCT	0.627													T	114121133	C	T	114121133	2	4	11	1	0	0	0	0	0	0	0	1	17523	755	27	1		1	ZBTB16	11	114121133	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	186760	114121133	20885383	713	9552											
CADM1	23705	broad.mit.edu	37	chr11	115111047	115111047	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggattcagtagctgaatcAcagagtcgtcactcttattg	10	8	4	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:115111047A>G	uc001ppi.3	-	2	347	c.218T>C	c.(217-219)GTG>GCG	p.V73A	CADM1_uc001ppf.3_Missense_Mutation_p.V73A|CADM1_uc001ppk.3_Missense_Mutation_p.V73A|CADM1_uc001ppj.3_Missense_Mutation_p.V73A|CADM1_uc001ppl.2_Missense_Mutation_p.V73A	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	73	Ig-like V-type.|Extracellular (Potential).				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			ovary(2)	2	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TAGCTGAATCACAGAGTCGTC	0.438													G	115111047	A	G	115111047	3	3	11	1	0	0	0	0	1	0	0	0	2566	159	6	3	1146	3	CADM1	11	115111047	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	989914	115111047	19895469	714	9553											
APOA1	335	broad.mit.edu	37	chr11	116707832	116707832	+	Frame_Shift_Del	DEL	G	G	-													cactcgatcccaggggctctGggggggttcatcttgctgcc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:116707831_116707831TG>T	uc001ppv.1	-	2	124	c.86_86CA>A	c.(85-87)cagfs	p.Q29fs		NM_000039	NP_000030	P02647	APOA1_HUMAN	Homo sapiens apolipoprotein A-I (APOA1), mRNA.	29					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cholesterol efflux|cholesterol homeostasis|cholesterol import|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCAGGGGCTCTGGGGGGGTTC	0.607													-	116707832	G	-	116707832	7	5	11	1	0	1	0	1	0	0	0	0	780	1357	47	0	726	0	APOA1	11	116707832	Frame_Shift_Del	DEL	G	TCGA-BR-4256-01A-01D-1126-08	1596785	116707832	18298684	715	9554											
CEP164	22897	broad.mit.edu	37	chr11	117222588	117222588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccatgtgacgaacactatCggagcttggtgatccaagag	11	9	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:117222588C>T	uc001prc.2	+	5	424	c.277C>T	c.(277-279)CGG>TGG	p.R93W	CEP164_uc001prb.2_Missense_Mutation_p.R93W|CEP164_uc001prd.2_Missense_Mutation_p.R93W|CEP164_uc010rxj.1_Missense_Mutation_p.R47W|CEP164_uc010rxk.1_Missense_Mutation_p.R93W	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	93	Interaction with ATRIP.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CGAACACTATCGGAGCTTGGT	0.423													T	117222588	C	T	117222588	3	4	11	1	0	0	0	0	1	0	0	0	3249	875	31	1	287	1	CEP164	11	117222588	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	514756	117222588	17783928	716	9555											
IL10RA	3587	broad.mit.edu	37	chr11	117864040	117864040	+	Frame_Shift_Del	DEL	C	C	-													gctacccaggcccaagatggCccccgcaaatgacacatatg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:117864039_117864039GC>G	uc001prv.3	+	3	528	c.451_451GC>G	c.(451-453)gccfs	p.A151fs	IL10RA_uc010rxl.2_Frame_Shift_Del_p.A131fs|IL10RA_uc010rxm.2_Frame_Shift_Del_p.A131fs|IL10RA_uc010rxn.2_Frame_Shift_Del_p.A2fs|IL10RA_uc001prw.3_Frame_Shift_Del_p.A2fs	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	151						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GCCCAAGATGGCCCCCGCAAA	0.517													-	117864040	C	-	117864040	7	5	11	1	0	1	0	1	0	0	0	0	7620	739	26	0	466	0	IL10RA	11	117864040	Frame_Shift_Del	DEL	C	TCGA-BR-4256-01A-01D-1126-08	641452	117864040	17142476	717	9556											
C11orf63	79864	broad.mit.edu	37	chr11	122817463	122817463	+	Frame_Shift_Del	DEL	A	A	-													aggctatctgtttcaactggAaaagggaaaaaagcataaga							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:122817462_122817462GA>G	uc001pym.3	+	5	2188	c.1891_1891GA>G	c.(1891-1893)gaafs	p.E631fs		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	631										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GTTTCAACTGGAAAAGGGAAA	0.388													-	122817463	A	-	122817463	7	5	11	1	0	1	0	1	0	0	0	0	1654	246	9	0	1974	0	C11orf63	11	122817463	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	4953423	122817463	12189053	718	9557											
GRAMD1B	57476	broad.mit.edu	37	chr11	123464792	123464792	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggctattgtcacgcaggtGttaagccccacctacaagca	9	12	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:123464792G>A	uc001pyx.2	+	4	587	c.258G>A	c.(256-258)GTG>GTA	p.V86V	GRAMD1B_uc001pyw.2_Silent_p.V93V|GRAMD1B_uc010rzw.1_Silent_p.V46V|GRAMD1B_uc010rzx.1_Silent_p.V46V|GRAMD1B_uc009zbe.1_Silent_p.V82V	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	86						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TCACGCAGGTGTTAAGCCCCA	0.498													A	123464792	G	A	123464792	2	1	11	1	0	0	0	0	0	0	0	1	6748	1364	48	4		4	GRAMD1B	11	123464792	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	647329	123464792	11541724	719	9558											
OR6M1	390261	broad.mit.edu	37	chr11	123676673	123676673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcatgatgaccgtgtagtGcagtgggtcgcagatagcca	14	8	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:123676673G>A	uc010rzz.1	-	1	385	c.385C>T	c.(385-387)CAC>TAC	p.H129Y		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		ACCGTGTAGTGCAGTGGGTCG	0.517													A	123676673	G	A	123676673	3	1	11	1	0	0	0	0	1	0	0	0	11205	1319	46	2	559	2	OR6M1	11	123676673	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	211881	123676673	11329843	720	9559											
ST3GAL4	6484	broad.mit.edu	37	chr11	126278260	126278260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggctccaagaccaccatgCgtctcttctaccctgaatct	7	15	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:126278260C>T	uc001qds.2	+	8	715	c.496C>T	c.(496-498)CGT>TGT	p.R166C	ST3GAL4_uc001qdt.2_Missense_Mutation_p.R162C|ST3GAL4_uc009zcc.2_Missense_Mutation_p.R2C|ST3GAL4_uc009zcd.2_Missense_Mutation_p.R155C|ST3GAL4_uc001qdu.2_Missense_Mutation_p.R162C|ST3GAL4_uc001qdv.2_Missense_Mutation_p.R166C|ST3GAL4_uc009zce.2_Missense_Mutation_p.R162C|ST3GAL4_uc001qdw.2_Missense_Mutation_p.R155C|ST3GAL4_uc001qdx.1_Missense_Mutation_p.R123C|ST3GAL4_uc001qdy.2_Missense_Mutation_p.R2C|ST3GAL4_uc001qdz.2_Missense_Mutation_p.R2C	NM_006278	NP_006269	Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	166	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		GACCACCATGCGTCTCTTCTA	0.552													T	126278260	C	T	126278260	3	4	11	1	0	0	0	0	1	0	0	0	15216	768	27	1	510	1	ST3GAL4	11	126278260	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2601587	126278260	8728256	721	9560											
C11orf45	219833	broad.mit.edu	37	chr11	128774355	128774355	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacctggggccagattctgGgactaggcatcagcacgttg	13	11	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:128774355G>T	uc001qeu.2	-	2	301	c.107C>A	c.(106-108)CCC>CAC	p.P36H	KCNJ5_uc001qet.2_Intron|KCNJ5_uc009zck.2_Intron|C11orf45_uc009zcl.2_Missense_Mutation_p.P36H|C11orf45_uc001qev.2_Missense_Mutation_p.P36H	NM_145013	NP_659450	Q8TAV5	CK045_HUMAN	hypothetical protein LOC219833 precursor	36						extracellular region					0	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		CCAGATTCtgggactaggcat	0.144													T	128774355	G	T	128774355	3	4	11	1	0	0	0	0	1	0	0	0	1642	1232	43	5	342	5	C11orf45	11	128774355	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2496095	128774355	6232161	722	9561											
KCNJ5	3762	broad.mit.edu	37	chr11	128781942	128781942	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaccagacagacatcaaCgtgggctttgacacgggcga	12	11	1	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:128781942C>T	uc001qet.2	+	2	1088	c.774C>T	c.(772-774)AAC>AAT	p.N258N	KCNJ5_uc009zck.2_Silent_p.N258N|KCNJ5_uc001qew.2_Silent_p.N258N	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	258	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CAGACATCAACGTGGGCTTTG	0.577													T	128781942	C	T	128781942	2	4	11	1	0	0	0	0	0	0	0	1	8054	535	19	1		1	KCNJ5	11	128781942	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	7587	128781942	6224574	723	9562											
ERC1	23085	broad.mit.edu	37	chr12	1213982	1213982	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagctctgcaaactgttattGagatgaaggtaagtgagaat	11	4	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:1213982G>A	uc001qjb.2	+	4	1394	c.1153G>A	c.(1153-1155)GAG>AAG	p.E385K	ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.E385K|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Missense_Mutation_p.E385K|ERC1_uc010sdv.1_Missense_Mutation_p.E161K|ERC1_uc009zdp.2_Missense_Mutation_p.E22K	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	385	Potential.				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(2)|breast(1)	5	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AACTGTTATTGAGATGAAGGT	0.373													A	1213982	G	A	1213982	3	1	11	1	0	0	0	0	1	0	0	0	5210	1291	45	4	1163	4	ERC1	12	1213982	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08		1213982	132637913	724	9563											
PARP11	57097	broad.mit.edu	37	chr12	3921464	3921464	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtaatctccaattagcactCgagcaagaaacatagattta	6	8	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:3921464C>A	uc001qmk.1	-	7	876	c.821G>T	c.(820-822)CGA>CTA	p.R274L	PARP11_uc001qml.2_Missense_Mutation_p.R281L|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Missense_Mutation_p.R200L|PARP11_uc001qmn.2_Missense_Mutation_p.R200L	NM_020367	NP_065100	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	274	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			ovary(1)|central_nervous_system(1)	2			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			AATTAGCACTCGAGCAAGAAA	0.408													A	3921464	C	A	3921464	3	1	11	1	0	0	0	0	1	0	0	0	11456	884	31	5	178	5	PARP11	12	3921464	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2707482	3921464	129930431	725	9564											
DYRK4	8798	broad.mit.edu	37	chr12	4719362	4719362	+	Frame_Shift_Del	DEL	A	A	-													atataaccaacaacagggggAaaaaaagatacccagattcc					rs80196697		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:4719361_4719361GA>G	uc009zeh.1	+	12	1443	c.1401_1401GA>G	c.(1399-1401)gggfs	p.G467fs	DYRK4_uc001qmx.3_Frame_Shift_Del_p.G352fs|DYRK4_uc001qmy.2_Frame_Shift_Del_p.G352fs|DYRK4_uc021qtq.1_Frame_Shift_Del_p.G206fs|DYRK4_uc001qmz.2_Frame_Shift_Del_p.G66fs|DYRK4_uc001qna.2_5'UTR|DYRK4_uc010ser.2_5'UTR	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	352						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G754G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ACAACAGGGGGAAAAAAAGAT	0.393													-	4719362	A	-	4719362	7	5	11	1	0	1	0	1	0	0	0	0	4858	247	9	0	1091	0	DYRK4	12	4719362	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	797898	4719362	129132533	726	9565											
VWF	7450	broad.mit.edu	37	chr12	6131131	6131131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcctgaggcaaaacgccgGccagccacctcacacactgg	9	16	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:6131131G>A	uc001qnn.1	-	27	3859	c.3609C>T	c.(3607-3609)GGC>GGT	p.G1203G	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1203					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CAAAACGCCGGCCAGCCACCT	0.488													A	6131131	G	A	6131131	2	1	11	1	0	0	0	0	0	0	0	1	17243	1190	42	2		2	VWF	12	6131131	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1411769	6131131	127720764	727	9566											
VWF	7450	broad.mit.edu	37	chr12	6161758	6161758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggctggaagatctcacCgtcatagtaacaggggcact	11	10	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:6161758C>T	uc001qnn.1	-	16	2387	c.2137G>A	c.(2137-2139)GGT>AGT	p.G713S	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	713					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	AAGATCTCACCGTCATAGTAA	0.532													T	6161758	C	T	6161758	3	4	11	1	0	0	0	0	1	0	0	0	17243	652	23	1	6452	1	VWF	12	6161758	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	30627	6161758	127690137	728	9567											
ACRBP	84519	broad.mit.edu	37	chr12	6749364	6749364	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgtacaaatccagcccGtaaaagcggcctgattctgg	9	14	1	1	rs143853195		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:6749364G>A	uc001qpu.1	-	8	1335	c.1287C>T	c.(1285-1287)TAC>TAT	p.Y429Y	LPAR5_uc010sff.1_5'Flank|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Silent_p.Y396Y	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	proacrosin binding protein sp32 precursor	429						acrosomal vesicle|extracellular region				central_nervous_system(1)	1						AATCCAGCCCGTAAAAGCGGC	0.632													A	6749364	G	A	6749364	2	1	11	1	0	0	0	0	0	0	0	1	170	1140	40	1		1	ACRBP	12	6749364	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	587606	6749364	127102531	729	9568											
SPSB2	84727	broad.mit.edu	37	chr12	6981674	6981674	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcccgatgtcccagcccCacgactcgctgttgctgccc	9	21	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:6981674C>T	uc001qrl.2	-	2	548	c.392G>A	c.(391-393)TGG>TAG	p.W131*	SPSB2_uc001qrm.2_Nonsense_Mutation_p.W131*|SPSB2_uc010sfp.1_Nonsense_Mutation_p.W131*|LRRC23_uc001qrn.1_5'Flank	NM_001146316	NP_001139788	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box	131	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(1)	1						GTCCCAGCCCCACGACTCGCT	0.701											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	6981674	C	T	6981674	4	4	11	1	0	0	0	0	0	1	0	0	15112	595	21	4	407	4	SPSB2	12	6981674	Nonsense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	232310	6981674	126870221	730	9569											
C1RL	51279	broad.mit.edu	37	chr12	7249058	7249058	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttggtgtagaagtcataccCttcgccacaccctatgcccc	7	16	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:7249058C>A	uc001qsn.2	-	6	1410	c.1393G>T	c.(1393-1395)GGG>TGG	p.G465W	C1RL_uc009zft.2_3'UTR	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	465	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			pancreas(1)	1						AAGTCATACCCTTCGCCACAC	0.567													A	7249058	C	A	7249058	3	1	11	1	0	0	0	0	1	0	0	0	1973	681	24	5	74	5	C1RL	12	7249058	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	267384	7249058	126602837	731	9570											
ATF7IP	55729	broad.mit.edu	37	chr12	14577496	14577496	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcccaggtgaaccggtccCtgttgaacccatttctggtg	10	13	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:14577496C>A	uc001rbw.2	+	2	805	c.647C>A	c.(646-648)CCT>CAT	p.P216H	ATF7IP_uc010shs.1_Missense_Mutation_p.P216H|ATF7IP_uc001rbu.2_Missense_Mutation_p.P216H|ATF7IP_uc001rbv.1_Missense_Mutation_p.P216H|ATF7IP_uc001rbx.2_Missense_Mutation_p.P216H|ATF7IP_uc010sht.1_Missense_Mutation_p.P216H|ATF7IP_uc001rby.3_Missense_Mutation_p.P216H|ATF7IP_uc001rbz.1_Missense_Mutation_p.P216H|ATF7IP_uc001rca.2_Missense_Mutation_p.P216H|ATF7IP_uc001rcb.2_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	216					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						GAACCGGTCCCTGTTGAACCC	0.522													A	14577496	C	A	14577496	3	1	11	1	0	0	0	0	1	0	0	0	1087	681	24	5	649	5	ATF7IP	12	14577496	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	7328438	14577496	119274399	732	9571											
PTPRO	5800	broad.mit.edu	37	chr12	15650227	15650227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgactataaaccttctcCtgaaacaggagtcctgtttg	7	9	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:15650227C>T	uc001rcv.1	+	3	572	c.398C>T	c.(397-399)CCT>CTT	p.P133L	PTPRO_uc001rcw.1_Missense_Mutation_p.P133L|PTPRO_uc001rcu.1_Missense_Mutation_p.P133L	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	133	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				AAACCTTCTCCTGAAACAGGA	0.383													T	15650227	C	T	15650227	3	4	11	1	0	0	0	0	1	0	0	0	12809	681	24	4	408	4	PTPRO	12	15650227	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1072731	15650227	118201668	733	9572											
PIK3C2G	5288	broad.mit.edu	37	chr12	18719882	18719882	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttttttttctcttaaaacaGgtttcctcattggtggcacc	6	10	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:18719882G>T	uc001rdt.2	+	28	3896	c.3780_splice	c.e28-1	p.E1260_splice	PIK3C2G_uc010sia.1_Splice_Site|PIK3C2G_uc010sib.1_Splice_Site_p.E1301_splice|PIK3C2G_uc010sic.1_Splice_Site_p.E1079_splice	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2 gamma						cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21		Hepatocellular(102;0.194)				TCTTAAAACAGGTTTCCTCAT	0.338													T	18719882	G	T	18719882	5	4	11	1	0	0	0	0	0	0	1	0	11911	1014	35	5	3885	5	PIK3C2G	12	18719882	Splice_Site	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3069655	18719882	115132013	734	9573											
SLCO1C1	53919	broad.mit.edu	37	chr12	20868189	20868189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctacctggatgattttGccagtgaagacaatgcagct	10	9	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:20868189G>A	uc001rej.3	+	7	1001	c.646G>A	c.(646-648)GCC>ACC	p.A216T	SLCO1C1_uc010sii.1_Missense_Mutation_p.A216T|SLCO1C1_uc010sij.1_Intron|SLCO1C1_uc009zip.2_Missense_Mutation_p.A50T|SLCO1C1_uc001rei.2_Missense_Mutation_p.A216T|SLCO1C1_uc010sik.1_Missense_Mutation_p.A98T	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	216	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					GGATGATTTTGCCAGTGAAGA	0.423													A	20868189	G	A	20868189	3	1	11	1	0	0	0	0	1	0	0	0	14725	1319	46	2	664	2	SLCO1C1	12	20868189	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2148307	20868189	112983706	735	9574											
SLCO1B3	28234	broad.mit.edu	37	chr12	21242842	21242842	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctttattctcttttcacagAagagccttcttcggcttgaa	6	10	4	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:21242842A>T	uc010sil.1	+	16	2114	c.2049A>T	c.(2047-2049)GGA>GGT	p.G683G	LST-3TM12_uc010sim.1_Silent_p.G622G|LST-3TM12_uc010sin.1_Silent_p.G575G			Q9NPD5	SO1B3_HUMAN	SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					CTTTTCACAGAAGAGCCTTCT	0.294													T	21242842	A	T	21242842	2	4	11	1	0	0	0	0	0	0	0	1	14724	260	9	5		5	SLCO1B3	12	21242842	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	374653	21242842	112609053	736	9575											
IAPP	3375	broad.mit.edu	37	chr12	21531349	21531349	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agagagagccactgaattacTtgcccctttagaggacaatg	10	9	0	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:21531349T>A	uc001rev.2	+	3	411	c.259T>A	c.(259-261)TTG>ATG	p.L87M	SLCO1A2_uc001res.2_Intron|SLCO1A2_uc010siq.1_Intron	NM_000415	NP_000406	P10997	IAPP_HUMAN	islet amyloid polypeptide precursor	87					apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity				0					Perindopril(DB00790)	ACTGAATTACTTGCCCCTTTA	0.383													A	21531349	T	A	21531349	3	1	11	1	0	0	0	0	1	0	0	0	7472	1606	56	5	265	5	IAPP	12	21531349	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	288507	21531349	112320546	737	9576											
ABCC9	10060	broad.mit.edu	37	chr12	21971084	21971084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatttttatccatacctacCgtaagtgcatacagaagacc	5	10	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:21971084C>T	uc001rfi.1	-	30	3791	c.3771G>A	c.(3769-3771)ACG>ACA	p.T1257T	ABCC9_uc001rfh.2_Silent_p.T1257T|ABCC9_uc001rfj.1_Silent_p.T1221T	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1257	Helical; Name=15; (Potential).|ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCATACCTACCGTAAGTGCAT	0.254													T	21971084	C	T	21971084	2	4	11	1	0	0	0	0	0	0	0	1	59	666	23	1		1	ABCC9	12	21971084	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	439735	21971084	111880811	738	9577											
CMAS	55907	broad.mit.edu	37	chr12	22214223	22214224	+	Frame_Shift_Ins	INS	-	-	A													gtttcttttagatatggctaINSttttggcaaagagaagctta							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:22214222_22214223T>TA	uc001rfm.3	+	5	875_876	c.796_797T>TA	c.(796-798)tatfs	p.Y266fs	CMAS_uc001rfn.3_Intron	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	Homo sapiens cytidine monophosphate N-acetylneuraminic acid synthetase (CMAS), mRNA.	266					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						TAGATATGGCTATTTTGGCAAA	0.371													A	22214224	-	A	22214223	7	5	11	1	0	1	1	0	0	0	0	0	3575	449	16	0	819	0	CMAS	12	22214223	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	243139	22214223	111637672	739	9578											
CASC1	55259	broad.mit.edu	37	chr12	25302613	25302613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaagatgaaggagctcctgCagttgtagtattgattcttg	11	5	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:25302613C>T	uc001rgl.2	-	6	598	c.516G>A	c.(514-516)CTG>CTA	p.L172L	CASC1_uc001rgk.2_Silent_p.L178L|CASC1_uc001rgm.3_Silent_p.L236L|CASC1_uc001rgj.2_Silent_p.L132L|CASC1_uc010sje.1_Silent_p.L113L|CASC1_uc010sjf.1_Silent_p.L60L|CASC1_uc010sjg.1_Silent_p.L172L	NM_001082973	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1 isoform b	172										ovary(2)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GGAGCTCCTGCAGTTGTAGTA	0.299													T	25302613	C	T	25302613	2	4	11	1	0	0	0	0	0	0	0	1	2660	697	25	2		2	CASC1	12	25302613	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3088390	25302613	108549282	740	9579											
ITPR2	3709	broad.mit.edu	37	chr12	26636652	26636652	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgattttcatggcaagggccCtggcaatactcagtcaagct	10	10	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:26636652C>A	uc001rhg.2	-	42	6408	c.5991G>T	c.(5989-5991)CAG>CAT	p.Q1997H	ITPR2_uc009zjg.1_Missense_Mutation_p.Q148H	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1997	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					GGCAAGGGCCCTGGCAATACT	0.468													A	26636652	C	A	26636652	3	1	11	1	0	0	0	0	1	0	0	0	7921	680	24	5	2178	5	ITPR2	12	26636652	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1334039	26636652	107215243	741	9580											
PPFIBP1	8496	broad.mit.edu	37	chr12	27842020	27842020	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccaataagactttgctgCgaagacatttggccactcat	7	12	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:27842020C>T	uc001ric.1	+	26	2964	c.2587C>T	c.(2587-2589)CGA>TGA	p.R863*	PPFIBP1_uc010sjr.1_Nonsense_Mutation_p.R694*|PPFIBP1_uc001rib.1_Nonsense_Mutation_p.R857*|PPFIBP1_uc001ria.2_Nonsense_Mutation_p.R832*|PPFIBP1_uc001rid.1_Nonsense_Mutation_p.R710*|PPFIBP1_uc001rif.1_Nonsense_Mutation_p.R370*	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	863	SAM 3.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)					GACTTTGCTGCGAAGACATTT	0.438													T	27842020	C	T	27842020	4	4	11	1	0	0	0	0	0	1	0	0	12313	760	27	1	2709	1	PPFIBP1	12	27842020	Nonsense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1205368	27842020	106009875	742	9581											
ADCY6	112	broad.mit.edu	37	chr12	49165630	49165630	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacacactcacacgactgatAgtagagttcatcattgcggc	8	12	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:49165630A>G	uc001rsh.3	-	18	3574	c.2914T>C	c.(2914-2916)TAT>CAT	p.Y972H	ADCY6_uc001rsj.3_Missense_Mutation_p.Y972H|ADCY6_uc001rsi.3_Missense_Mutation_p.Y919H|ADCY6_uc010slw.1_Missense_Mutation_p.Y203H	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	972	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0						CACGACTGATAGTAGAGTTCA	0.552													G	49165630	A	G	49165630	3	3	11	1	0	0	0	0	1	0	0	0	298	420	15	3	608	3	ADCY6	12	49165630	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	21323610	49165630	84686265	743	9582											
MLL2	8085	broad.mit.edu	37	chr12	49415918	49415918	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccacacagttaggggcacAggaatggttaatgtacctgg	14	8	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:49415918A>C	uc001rta.3	-	53	16429	c.16429T>G	c.(16429-16431)TGT>GGT	p.C5477G		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5477	SET.	Zinc (By similarity).			chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TTAGGGGCACAGGAATGGTTA	0.512			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			C	49415918	A	C	49415918	3	2	11	1	0	0	0	0	1	0	0	0	9621	188	7	5	192	5	MLL2	12	49415918	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	250288	49415918	84435977	744	9583											
KCNH3	23416	broad.mit.edu	37	chr12	49948282	49948282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgccccgcgcttcagtcGtggcctccgaggggagctca	14	14	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:49948282G>A	uc001ruh.1	+	11	2341	c.2081G>A	c.(2080-2082)CGT>CAT	p.R694H	KCNH3_uc010smj.1_Missense_Mutation_p.R634H	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	694	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						CGCTTCAGTCGTGGCCTCCGA	0.652													A	49948282	G	A	49948282	3	1	11	1	0	0	0	0	1	0	0	0	8033	1145	40	1	2123	1	KCNH3	12	49948282	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	532364	49948282	83903613	745	9584											
MCRS1	10445	broad.mit.edu	37	chr12	49959312	49959314	+	Splice_Site	DEL	CTT	CTT	-													taagtctcccaattcctcacCttcttcttctcactggagga							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:49959311_49959313CCTT>C	uc001rui.1	-	3	327	c.327_splice	c.e3+1	p.K109_splice	MCRS1_uc001ruj.2_Splice_Site_p.K83_splice|MCRS1_uc001ruk.1_Splice_Site_p.K96_splice|MCRS1_uc009zlj.1_Splice_Site	NM_001012300	NP_001012300	Q96EZ8	MCRS1_HUMAN	Homo sapiens microspherule protein 1 (MCRS1), transcript variant 2, mRNA.	96					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex|cytoplasm|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CAATTCCTCACCTTCTTCTTCTC	0.581													-	49959314	CTT	-	49959312	8	5	11	1	0	1	0	1	0	0	1	0	9399	695	24	0	1148	0	MCRS1	12	49959312	Splice_Site	DEL	CTT	TCGA-BR-4256-01A-01D-1126-08	11030	49959312	83892583	746	9585											
PRPF40B	25766	broad.mit.edu	37	chr12	50025218	50025218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccccccaccctttcctcCgatggggctaccccccatga	7	20	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:50025218C>T	uc001rur.1	+	2	117	c.53C>T	c.(52-54)CCG>CTG	p.P18L	PRPF40B_uc001rup.1_Missense_Mutation_p.P40L|PRPF40B_uc001ruq.1_Missense_Mutation_p.P12L|PRPF40B_uc001rus.1_5'Flank	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Huntingtin interacting protein C isoform 1	18	Pro-rich.				mRNA processing|RNA splicing	nuclear speck				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						CCCTTTCCTCCGATGGGGCTA	0.602													T	50025218	C	T	50025218	3	4	11	1	0	0	0	0	1	0	0	0	12572	652	23	1	59	1	PRPF40B	12	50025218	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	65906	50025218	83826677	747	9586											
SLC4A8	9498	broad.mit.edu	37	chr12	51882498	51882498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttagccaacaagggatgatCgcggatggattattaatccc	10	9	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:51882498C>T	uc001rys.1	+	18	2480	c.2302C>T	c.(2302-2304)CGC>TGC	p.R768C	SLC4A8_uc001rym.2_Missense_Mutation_p.R715C|SLC4A8_uc001ryn.2_Missense_Mutation_p.R715C|SLC4A8_uc001ryo.2_Missense_Mutation_p.R715C|SLC4A8_uc010snj.1_Missense_Mutation_p.R795C|SLC4A8_uc001ryr.2_Missense_Mutation_p.R768C	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	768	Extracellular (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.15)		AAGGGATGATCGCGGATGGAT	0.378													T	51882498	C	T	51882498	3	4	11	1	0	0	0	0	1	0	0	0	14659	884	31	1	2372	1	SLC4A8	12	51882498	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1857280	51882498	81969397	748	9587											
CSAD	51380	broad.mit.edu	37	chr12	53565756	53565756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgagcacaaacacgggggCgatttcatatgtgtacctgc	11	10	1	1	rs138203066	by1000genomes	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:53565756C>T	uc001sby.2	-	6	487	c.361G>A	c.(361-363)GCC>ACC	p.A121T	CSAD_uc001sbw.2_Intron|CSAD_uc009zmt.2_5'UTR|CSAD_uc010snx.1_Missense_Mutation_p.A148T|CSAD_uc001sbz.2_Missense_Mutation_p.A121T|CSAD_uc009zmu.2_Intron|CSAD_uc001sca.3_RNA|CSAD_uc010sny.1_Missense_Mutation_p.A121T	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	121					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	AACACGGGGGCGATTTCATAT	0.562									Hereditary_Prostate_Cancer				T	53565756	C	T	53565756	3	4	11	1	0	0	0	0	1	0	0	0	3925	768	27	1	1164	1	CSAD	12	53565756	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1683258	53565756	80286139	749	9588											
CALCOCO1	57658	broad.mit.edu	37	chr12	54115307	54115307	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgatggtctggatgtcatcCtctagctccaggatgcgtgc	12	11	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:54115307C>A	uc001sef.2	-	6	846	c.702G>T	c.(700-702)GAG>GAT	p.E234D	CALCOCO1_uc010som.1_Missense_Mutation_p.E201D|CALCOCO1_uc010son.1_Missense_Mutation_p.E111D|CALCOCO1_uc001seh.2_Missense_Mutation_p.E234D|CALCOCO1_uc009znd.2_Missense_Mutation_p.E234D|CALCOCO1_uc001seg.2_Missense_Mutation_p.E111D|CALCOCO1_uc010soo.1_Missense_Mutation_p.E227D	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	coiled-coil transcriptional coactivator isoform	234	Potential.				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			ovary(1)	1						GGATGTCATCCTCTAGCTCCA	0.567													A	54115307	C	A	54115307	3	1	11	1	0	0	0	0	1	0	0	0	2577	680	24	5	1413	5	CALCOCO1	12	54115307	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	549551	54115307	79736588	750	9589											
HOXC6	3223	broad.mit.edu	37	chr12	54422366	54422366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccgggggccaggacgtcCtccccaacgtcgccctcaat	11	18	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:54422366C>T	uc001sev.2	+	1	173	c.61C>T	c.(61-63)CTC>TTC	p.L21F	HOXC6_uc001ses.2_5'UTR|HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron	NM_004503	NP_004494	P09630	HXC6_HUMAN	homeobox C6 isoform 1	21					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|upper_aerodigestive_tract(1)	3						CCAGGACGTCCTCCCCAACGT	0.542													T	54422366	C	T	54422366	3	4	11	1	0	0	0	0	1	0	0	0	7315	681	24	4	63	4	HOXC6	12	54422366	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	307059	54422366	79429529	751	9590											
NCKAP1L	3071	broad.mit.edu	37	chr12	54913073	54913073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcccgaatgctggactccGtagaaaaattgctggtggaa	11	9	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:54913073G>A	uc001sgc.3	+	16	1661	c.1582G>A	c.(1582-1584)GTA>ATA	p.V528I	NCKAP1L_uc010sox.1_Missense_Mutation_p.V70I|NCKAP1L_uc010soy.1_Missense_Mutation_p.V478I	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	528					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						GCTGGACTCCGTAGAAAAATT	0.433													A	54913073	G	A	54913073	3	1	11	1	0	0	0	0	1	0	0	0	10222	1145	40	1	1644	1	NCKAP1L	12	54913073	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	490707	54913073	78938822	752	9591											
NCKAP1L	3071	broad.mit.edu	37	chr12	54920460	54920460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccagagtcatccgcaacGccctcctgcagcagacacaa	7	17	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:54920460G>A	uc001sgc.3	+	21	2384	c.2305G>A	c.(2305-2307)GCC>ACC	p.A769T	NCKAP1L_uc010sox.1_Missense_Mutation_p.A311T|NCKAP1L_uc010soy.1_Missense_Mutation_p.A719T	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	769				NA -> KP (in Ref. 1; AAA35964).	actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						CATCCGCAACGCCCTCCTGCA	0.517													A	54920460	G	A	54920460	3	1	11	1	0	0	0	0	1	0	0	0	10222	1087	38	1	2387	1	NCKAP1L	12	54920460	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	7387	54920460	78931435	753	9592											
OR6C70	390327	broad.mit.edu	37	chr12	55863562	55863562	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtttgcagatggcaacatAgcgatcataggacagagcag	13	7	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:55863562A>G	uc010spn.1	-	1	361	c.361T>C	c.(361-363)TAT>CAT	p.Y121H		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C,	121	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						ATGGCAACATAGCGATCATAG	0.388													G	55863562	A	G	55863562	3	3	11	1	0	0	0	0	1	0	0	0	11197	420	15	3	579	3	OR6C70	12	55863562	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	943102	55863562	77988333	754	9593											
ERBB3	2065	broad.mit.edu	37	chr12	56487323	56487323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaagcataatcggccgcGcagagactgcggtgagggaa	14	10	1	2	rs149951770		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:56487323G>A	uc001sjh.2	+	12	1662	c.1469G>A	c.(1468-1470)CGC>CAC	p.R490H	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.R431H|ERBB3_uc009zok.2_5'Flank|ERBB3_uc001sjk.2_5'Flank|ERBB3_uc001sjj.1_Missense_Mutation_p.R58H	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	490	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AATCGGCCGCGCAGAGACTGC	0.567													A	56487323	G	A	56487323	3	1	11	1	0	0	0	0	1	0	0	0	5208	1087	38	1	1646	1	ERBB3	12	56487323	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	623761	56487323	77364572	755	9594											
ERBB3	2065	broad.mit.edu	37	chr12	56495459	56495459	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccccctaggccaagttccCttgaggagctgggttatgag	12	11	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:56495459C>A	uc001sjh.2	+	28	3842	c.3649C>A	c.(3649-3651)CTT>ATT	p.L1217I	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Missense_Mutation_p.L574I|ERBB3_uc010sqc.1_Missense_Mutation_p.L1158I|ERBB3_uc009zok.2_Missense_Mutation_p.L482I|ERBB3_uc001sjk.2_Missense_Mutation_p.L458I|ERBB3_uc001sjl.2_Missense_Mutation_p.L337I|PA2G4_uc001sjm.2_5'Flank|PA2G4_uc009zol.2_5'Flank|PA2G4_uc009zom.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	1217	Cytoplasmic (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCCAAGTTCCCTTGAGGAGCT	0.537													A	56495459	C	A	56495459	3	1	11	1	0	0	0	0	1	0	0	0	5208	681	24	5	3890	5	ERBB3	12	56495459	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	8136	56495459	77356436	756	9595											
ESYT1	23344	broad.mit.edu	37	chr12	56532561	56532561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctttctagctgcgaaaaGgcaccaagcacctcagccct	8	14	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:56532561G>A	uc001sjq.2	+	23	2493	c.2443G>A	c.(2443-2445)GGC>AGC	p.G815S	ESYT1_uc001sjr.2_Missense_Mutation_p.G825S	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	815	C2 4.					integral to membrane				ovary(4)|skin(1)	5						GCTGCGAAAAGGCACCAAGCA	0.448													A	56532561	G	A	56532561	3	1	11	1	0	0	0	0	1	0	0	0	5264	1000	35	4	2563	4	ESYT1	12	56532561	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	37102	56532561	77319334	757	9596											
TIMELESS	8914	broad.mit.edu	37	chr12	56811689	56811689	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcccatcaaattccctAcctctgttcctgccctcatc	4	17	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:56811689A>G	uc001slf.2	-	28	3724	c.3556_splice	c.e28+1	p.A1186_splice		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog						cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						CAAATTCCCTACCTCTGTTCC	0.463													G	56811689	A	G	56811689	5	3	11	1	0	0	0	0	0	0	1	0	15901	405	14	3	76	3	TIMELESS	12	56811689	Splice_Site	SNP	A	TCGA-BR-4256-01A-01D-1126-08	279128	56811689	77040206	758	9597											
TIMELESS	8914	broad.mit.edu	37	chr12	56817369	56817369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcctctcagcccgcaccGtttcaggtagtccagaaaat	9	14	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:56817369G>A	uc001slf.2	-	17	2257	c.2089C>T	c.(2089-2091)CGC>TGC	p.R697C		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	697					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						AGCCCGCACCGTTTCAGGTAG	0.418													A	56817369	G	A	56817369	3	1	11	1	0	0	0	0	1	0	0	0	15901	1159	40	1	1589	1	TIMELESS	12	56817369	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	5680	56817369	77034526	759	9598											
PRIM1	5557	broad.mit.edu	37	chr12	57128007	57128007	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaaactttcacataaggTgctagactggtcttcttata	6	8	4	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:57128007T>C	uc001smd.2	-	12	1231	c.1167A>G	c.(1165-1167)GCA>GCG	p.A389A		NM_000946	NP_000937	P49642	PRI1_HUMAN	DNA primase polypeptide 1	389					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding				0						TCACATAAGGTGCTAGACTGG	0.328													C	57128007	T	C	57128007	2	2	11	1	0	0	0	0	0	0	0	1	12490	1683	59	3		3	PRIM1	12	57128007	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	310638	57128007	76723888	760	9599											
INHBE	83729	broad.mit.edu	37	chr12	57850545	57850546	+	Frame_Shift_Del	DEL	CT	CT	-													tccctactgcccgaaggcccCtctctctcctctacctggat							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:57850544_57850545CCT>C	uc001snw.3	+	1	1190_1191	c.966_967CCT>C	c.(964-969)cccctcfs	p.P322fs		NM_031479	NP_113667	P58166	INHBE_HUMAN	Homo sapiens inhibin, beta E (INHBE), mRNA.	322					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CCCGAAGGCCCCTCTCTCTCCT	0.564											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	57850546	CT	-	57850545	7	5	11	1	0	1	0	1	0	0	0	0	7744	681	24	0	973	0	INHBE	12	57850545	Frame_Shift_Del	DEL	CT	TCGA-BR-4256-01A-01D-1126-08	722538	57850545	76001350	761	9600											
GLI1	2735	broad.mit.edu	37	chr12	57860075	57860075	+	Frame_Shift_Del	DEL	G	G	-													gaaggagttcgtgtgccactGggggggctgctccagggagc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:57860074_57860074TG>T	uc001snx.3	+	7	908	c.814_814TG>T	c.(814-816)tggfs	p.W272fs	GLI1_uc021qzi.1_Frame_Shift_Del_p.W231fs|GLI1_uc009zpq.3_Frame_Shift_Del_p.W144fs	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTG	0.597													-	57860075	G	-	57860075	7	5	11	1	0	1	0	1	0	0	0	0	6437	1357	47	0	841	0	GLI1	12	57860075	Frame_Shift_Del	DEL	G	TCGA-BR-4256-01A-01D-1126-08	9530	57860075	75991820	762	9601											
MARS	4141	broad.mit.edu	37	chr12	57906639	57906639	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgacatctggcgcttctAtctgctgtacattcggcctg	10	12	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:57906639A>G	uc001sog.2	+	15	1882	c.1859A>G	c.(1858-1860)TAT>TGT	p.Y620C	MARS_uc001sof.1_RNA|MARS_uc010srq.1_Missense_Mutation_p.Y386C|MARS_uc001soh.1_Missense_Mutation_p.Y15C	NM_004990	NP_004981	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	620					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			ovary(3)|central_nervous_system(1)|pancreas(1)	5			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGGCGCTTCTATCTGCTGTAC	0.547													G	57906639	A	G	57906639	3	3	11	1	0	0	0	0	1	0	0	0	9316	449	16	3	1917	3	MARS	12	57906639	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	46564	57906639	75945256	763	9602											
MON2	23041	broad.mit.edu	37	chr12	62960172	62960172	+	Frame_Shift_Del	DEL	A	A	-													agtagttgtggatttataccAaaaaacagcgtgtcacaaag							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:62960171_62960171CA>C	uc001sre.3	+	28	4655	c.4264_4264CA>C	c.(4264-4266)caafs	p.Q1422fs	MON2_uc010ssn.2_Frame_Shift_Del_p.Q1416fs|MON2_uc009zqj.3_Frame_Shift_Del_p.Q1422fs|MON2_uc010ssl.2_Frame_Shift_Del_p.Q1350fs|MON2_uc010ssm.2_Frame_Shift_Del_p.Q1393fs|MON2_uc001srf.3_Frame_Shift_Del_p.Q1185fs|MON2_uc001srg.3_Frame_Shift_Del_p.Q291fs	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	1423					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GGATTTATACCAAAAAACAGC	0.358													-	62960172	A	-	62960172	7	5	11	1	0	1	0	1	0	0	0	0	9700	130	5	0	4379	0	MON2	12	62960172	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	5053533	62960172	70891723	764	9603											
DYRK2	8445	broad.mit.edu	37	chr12	68051258	68051258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtctaaatgctaagaagCgccagggcatgacaggtggg	16	7	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:68051258C>T	uc001str.3	+	3	973	c.571C>T	c.(571-573)CGC>TGC	p.R191C	DYRK2_uc001sts.3_Missense_Mutation_p.R118C	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	191					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(1)|central_nervous_system(1)	4			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		TGCTAAGAAGCGCCAGGGCAT	0.473													T	68051258	C	T	68051258	3	4	11	1	0	0	0	0	1	0	0	0	4856	768	27	1	581	1	DYRK2	12	68051258	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	5091086	68051258	65800637	765	9604											
DYRK2	8445	broad.mit.edu	37	chr12	68052038	68052038	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgctggatgcatccaaaCgagccaaaaattttgtgagc	9	9	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:68052038C>T	uc001str.3	+	3	1753	c.1351C>T	c.(1351-1353)CGA>TGA	p.R451*	DYRK2_uc001sts.3_Nonsense_Mutation_p.R378*	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	451	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(1)|central_nervous_system(1)	4			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		TGCATCCAAACGAGCCAAAAA	0.547													T	68052038	C	T	68052038	4	4	11	1	0	0	0	0	0	1	0	0	4856	528	19	1	1361	1	DYRK2	12	68052038	Nonsense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	780	68052038	65799857	766	9605											
BBS10	79738	broad.mit.edu	37	chr12	76739774	76739774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggttgattggtttgcagtGcatggacagctcttatatat	12	5	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:76739774G>A	uc001syd.1	-	2	2075	c.1991C>T	c.(1990-1992)GCA>GTA	p.A664V		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	664					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			ovary(1)|skin(1)	2						GGTTTGCAGTGCATGGACAGC	0.373									Bardet-Biedl_syndrome				A	76739774	G	A	76739774	3	1	11	1	0	0	0	0	1	0	0	0	1336	1319	46	2	184	2	BBS10	12	76739774	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	8687736	76739774	57112121	767	9606											
NAV3	89795	broad.mit.edu	37	chr12	78400518	78400518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggactgctttacgccccccGcagcctcccagttcaggacc	9	19	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:78400518G>A	uc001syp.2	+	8	1373	c.1200G>A	c.(1198-1200)CCG>CCA	p.P400P	NAV3_uc001syo.2_Silent_p.P400P	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	400						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TACGCCCCCCGCAGCCTCCCA	0.502										HNSCC(70;0.22)			A	78400518	G	A	78400518	2	1	11	1	0	0	0	0	0	0	0	1	10185	1074	38	1		1	NAV3	12	78400518	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1660744	78400518	55451377	768	9607											
PLXNC1	10154	broad.mit.edu	37	chr12	94631565	94631565	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcctgaaaggaaccagtacCtgtgataaggatgtgtgagt	12	6	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:94631565C>A	uc001tdc.2	+	10	2355	c.2106C>A	c.(2104-2106)ACC>ACA	p.T702T		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	702	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						GAACCAGTACCTGTGATAAGG	0.408													A	94631565	C	A	94631565	2	1	11	1	0	0	0	0	0	0	0	1	12126	668	24	5		5	PLXNC1	12	94631565	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	16231047	94631565	39220330	769	9608											
LTA4H	4048	broad.mit.edu	37	chr12	96412962	96412962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacctcagaaaactcataaGcagacttttccacctgctct	4	14	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:96412962G>A	uc001ten.1	-	7	763	c.695C>T	c.(694-696)GCT>GTT	p.A232V	LTA4H_uc010suy.1_Missense_Mutation_p.A194V|LTA4H_uc010suz.1_Missense_Mutation_p.A194V|LTA4H_uc010sva.1_RNA	NM_000895	NP_000886	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	232					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)	1						AAACTCATAAGCAGACTTTTC	0.353													A	96412962	G	A	96412962	3	1	11	1	0	0	0	0	1	0	0	0	9069	971	34	2	1192	2	LTA4H	12	96412962	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1781397	96412962	37438933	770	9609											
DRAM1	55332	broad.mit.edu	37	chr12	102302036	102302036	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgtcgtgtacacgctcCtacagtccatcatctcttac	8	13	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:102302036C>A	uc001tix.2	+	4	878	c.415C>A	c.(415-417)CTA>ATA	p.L139I	DRAM1_uc010svv.1_Intron	NM_018370	NP_060840	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	139					apoptosis|autophagy	integral to membrane|lysosomal membrane				ovary(1)	1						GTACACGCTCCTACAGTCCAT	0.498													A	102302036	C	A	102302036	3	1	11	1	0	0	0	0	1	0	0	0	4753	680	24	5	429	5	DRAM1	12	102302036	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	5889074	102302036	31549859	771	9610											
STAB2	55576	broad.mit.edu	37	chr12	104160109	104160109	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcaatgaccccttgaggacaCtgtgagggcctggacgggag	16	10	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:104160109C>G	uc001tjw.2	+	69	7837	c.7651C>G	c.(7651-7653)CTG>GTG	p.L2551V	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2551	Cytoplasmic (Potential).				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CTTGAGGACACTGTGAGGGCC	0.542													G	104160109	C	G	104160109	3	3	11	1	0	0	0	0	1	0	0	0	15237	564	20	5	7925	5	STAB2	12	104160109	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1858073	104160109	29691786	772	9611											
NUAK1	9891	broad.mit.edu	37	chr12	106464587	106464587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcccggtactctccgctgCtgatttgccgaatgaggttt	11	12	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:106464587C>T	uc001tlj.1	-	6	2177	c.797G>A	c.(796-798)AGC>AAC	p.S266N		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	266	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						CTCTCCGCTGCTGATTTGCCG	0.547													T	106464587	C	T	106464587	3	4	11	1	0	0	0	0	1	0	0	0	10712	797	28	2	1196	2	NUAK1	12	106464587	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2304478	106464587	27387308	773	9612											
NUAK1	9891	broad.mit.edu	37	chr12	106480539	106480539	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caatagtgcacagcagagacGatctgccggaagaagtgccg	13	10	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:106480539G>A	uc001tlj.1	-	3	1866	c.486C>T	c.(484-486)ATC>ATT	p.I162I		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	162	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						CAGCAGAGACGATCTGCCGGA	0.507													A	106480539	G	A	106480539	2	1	11	1	0	0	0	0	0	0	0	1	10712	1048	37	1		1	NUAK1	12	106480539	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	15952	106480539	27371356	774	9613											
ACACB	32	broad.mit.edu	37	chr12	109604665	109604665	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccctcattcttattctgcaGgccgagcatgtcgggactcc	9	14	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:109604665G>T	uc001tob.2	+	3	773	c.654_splice	c.e3-1	p.R218_splice	ACACB_uc001toc.2_Splice_Site_p.R218_splice	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta						acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	TTATTCTGCAGGCCGAGCATG	0.572													T	109604665	G	T	109604665	5	4	11	1	0	0	0	0	0	0	1	0	107	1014	35	5	659	5	ACACB	12	109604665	Splice_Site	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3124126	109604665	24247230	775	9614											
ACACB	32	broad.mit.edu	37	chr12	109675059	109675059	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtaacttcgatctgaccgcCgtgccctgtgccaaccacaa	8	16	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:109675059C>T	uc001tob.2	+	34	4655	c.4536C>T	c.(4534-4536)GCC>GCT	p.A1512A	ACACB_uc001toc.2_Silent_p.A1512A|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.A178A	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1512					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	ATCTGACCGCCGTGCCCTGTG	0.552													T	109675059	C	T	109675059	2	4	11	1	0	0	0	0	0	0	0	1	107	639	23	1		1	ACACB	12	109675059	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	70394	109675059	24176836	776	9615											
ACACB	32	broad.mit.edu	37	chr12	109680283	109680283	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaagcaagggccccagcaCgggatgctgatcaatactcc	10	13	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:109680283C>T	uc001tob.2	+	37	5183	c.5064C>T	c.(5062-5064)CAC>CAT	p.H1688H	ACACB_uc001toc.2_Silent_p.H1688H|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.H354H	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1688					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	GGCCCCAGCACGGGATGCTGA	0.537													T	109680283	C	T	109680283	2	4	11	1	0	0	0	0	0	0	0	1	107	535	19	1		1	ACACB	12	109680283	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	5224	109680283	24171612	777	9616											
ATP2A2	488	broad.mit.edu	37	chr12	110781180	110781180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatgaataaacctccccGgaacccaaaggaaccattga	6	13	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:110781180G>A	uc001tqk.3	+	16	3025	c.2462G>A	c.(2461-2463)CGG>CAG	p.R821Q	ATP2A2_uc001tql.3_Missense_Mutation_p.R821Q|ATP2A2_uc010sxy.1_Missense_Mutation_p.R794Q|ATP2A2_uc001tqn.3_5'Flank|ATP2A2_uc009zvn.2_5'Flank	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	821	Cytoplasmic (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)|skin(1)	4						AAACCTCCCCGGAACCCAAAG	0.463													A	110781180	G	A	110781180	3	1	11	1	0	0	0	0	1	0	0	0	1137	1116	39	1	2524	1	ATP2A2	12	110781180	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1100897	110781180	23070715	778	9617											
ATXN2	6311	broad.mit.edu	37	chr12	111893896	111893896	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaacgtgagaaggatggatCgtaaagacagtctgttgtgc	14	5	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:111893896C>T	uc001tsj.2	-	23	3843	c.3681G>A	c.(3679-3681)ACG>ACA	p.T1227T	ATXN2_uc001tsh.2_Silent_p.T962T|ATXN2_uc001tsi.2_Silent_p.T920T|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Silent_p.T415T|ATXN2_uc001tsl.1_Silent_p.T228T	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	1227					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						AAGGATGGATCGTAAAGACAG	0.557													T	111893896	C	T	111893896	2	4	11	1	0	0	0	0	0	0	0	1	1211	871	31	1		1	ATXN2	12	111893896	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1112716	111893896	21957999	779	9618											
ACAD10	80724	broad.mit.edu	37	chr12	112140085	112140085	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacagcagagggttttttaCgagaatttgggagactttgc	12	5	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:112140085C>T	uc001tsq.2	+	3	507	c.307C>T	c.(307-309)CGA>TGA	p.R103*	ACAD10_uc009zvw.2_Nonsense_Mutation_p.R103*|ACAD10_uc001tso.3_Nonsense_Mutation_p.R103*|ACAD10_uc001tsp.2_Nonsense_Mutation_p.R103*|ACAD10_uc009zvx.2_Nonsense_Mutation_p.R103*	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	103							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						GGGTTTTTTACGAGAATTTGG	0.393													T	112140085	C	T	112140085	4	4	11	1	0	0	0	0	0	1	0	0	108	528	19	1	313	1	ACAD10	12	112140085	Nonsense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	246189	112140085	21711810	780	9619											
C12orf51	283450	broad.mit.edu	37	chr12	112600860	112600861	+	Frame_Shift_Ins	INS	-	-	G													ggtacctgctgtgccatctgINSggggggcgatcttcatgggg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:112600859_112600860T>TG	uc021reb.1	-	74	13100_13101	c.12704_12705A>CA	c.(12703-12705)ccafs	p.P4235fs		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CTGTGCCATCTGGGGGGGCGAT	0.629													G	112600861	-	G	112600860	7	5	11	1	0	1	1	0	0	0	0	0	1696	1348	47	0	158	0	C12orf51	12	112600860	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	460775	112600860	21251035	781	9620											
C12orf51	283450	broad.mit.edu	37	chr12	112650367	112650367	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaggcgctgcccgcagTatgtgaagtacacccggccc	14	13	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:112650367T>C	uc009zwc.2	-	42	6305	c.6287A>G	c.(6286-6288)TAC>TGC	p.Y2096C	C12orf51_uc001ttr.1_Missense_Mutation_p.Y271C	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CTGCCCGCAGTATGTGAAGTA	0.557													C	112650367	T	C	112650367	3	2	11	1	0	0	0	0	1	0	0	0	1696	1638	57	3	5815	3	C12orf51	12	112650367	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	49507	112650367	21201528	782	9621											
DTX1	1840	broad.mit.edu	37	chr12	113532908	113532908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaagacgggtacgcagcCgcctgggaagatggagttcc	17	9	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:113532908C>T	uc001tuk.1	+	7	1784	c.1448C>T	c.(1447-1449)CCG>CTG	p.P483L		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	483					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						GGTACGCAGCCGCCTGGGAAG	0.647													T	113532908	C	T	113532908	3	4	11	1	0	0	0	0	1	0	0	0	4793	652	23	1	1474	1	DTX1	12	113532908	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	882541	113532908	20318987	783	9622											
TBX3	6926	broad.mit.edu	37	chr12	115120662	115120662	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtgccccgcttgtgaaacTgatcccaaagttctttagcc	9	13	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:115120662T>C	uc001tvt.1	-	1	1308	c.344A>G	c.(343-345)CAG>CGG	p.Q115R	TBX3_uc001tvu.1_Missense_Mutation_p.Q115R|TBX3_uc010syw.1_Missense_Mutation_p.Q115R	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	115	T-box; first part.				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			ovary(2)|skin(1)	3	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CTTGTGAAACTGATCCCAAAG	0.567													C	115120662	T	C	115120662	3	2	11	1	0	0	0	0	1	0	0	0	15656	1580	55	3	1919	3	TBX3	12	115120662	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	1587754	115120662	18731233	784	9623											
FBXO21	23014	broad.mit.edu	37	chr12	117624320	117624320	+	Frame_Shift_Del	DEL	A	A	-													atacacaccagttcatcctcAaaaaaaatctctggtccttc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:117624319_117624319CA>C	uc001twk.3	-	2	472	c.433_433TG>G	c.(433-435)gagfs	p.E145fs	FBXO21_uc001twj.3_Frame_Shift_Del_p.E145fs|FBXO21_uc009zwq.3_Frame_Shift_Del_p.E145fs	NM_033624	NP_296373	O94952	FBX21_HUMAN	Homo sapiens F-box protein 21 (FBXO21), transcript variant 1, mRNA.	145					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.F144fs*9(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		AGTTCATCCTCAAAAAAAATC	0.368													-	117624320	A	-	117624320	7	5	11	1	0	1	0	1	0	0	0	0	5733	127	5	0	1494	0	FBXO21	12	117624320	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	2503658	117624320	16227575	785	9624											
NOS1	4842	broad.mit.edu	37	chr12	117685162	117685162	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccagattaccttgaagacCttcttggcccaggtcctgaa	8	12	1	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:117685162C>A	uc001twm.1	-	18	3500	c.2814G>T	c.(2812-2814)AAG>AAT	p.K938N		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	938	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCTTGAAGACCTTCTTGGCCC	0.512													A	117685162	C	A	117685162	3	1	11	1	0	0	0	0	1	0	0	0	10541	680	24	5	1538	5	NOS1	12	117685162	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	60842	117685162	16166733	786	9625											
RSRC2	65117	broad.mit.edu	37	chr12	123001921	123001921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggatctcgatttcttcCgctccctactcctggatcga	7	14	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:123001921C>T	uc001ucr.2	-	5	601	c.455G>A	c.(454-456)CGG>CAG	p.R152Q	RSRC2_uc001uco.2_5'UTR|RSRC2_uc001ucp.2_Missense_Mutation_p.R93Q|RSRC2_uc001ucq.2_5'UTR|RSRC2_uc001ucs.2_5'UTR|RSRC2_uc001uct.2_Missense_Mutation_p.R104Q|RSRC2_uc001ucu.2_Missense_Mutation_p.R152Q	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2 isoform a	152	Ser-rich.									ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		CGATTTCTTCCGCTCCCTACT	0.463													T	123001921	C	T	123001921	3	4	11	1	0	0	0	0	1	0	0	0	13715	652	23	1	873	1	RSRC2	12	123001921	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	5316759	123001921	10849974	787	9626											
DNAH10	196385	broad.mit.edu	37	chr12	124258738	124258738	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgaaggaagctatggaaaTtatgccagaaacactggagt	11	6	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:124258738T>G	uc001uft.3	+	5	390	c.365T>G	c.(364-366)ATT>AGT	p.I122S		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	122	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTATGGAAATTATGCCAGAA	0.393													G	124258738	T	G	124258738	3	3	11	1	0	0	0	0	1	0	0	0	4598	1493	52	5	383	5	DNAH10	12	124258738	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	1256817	124258738	9593157	788	9627											
DNAH10	196385	broad.mit.edu	37	chr12	124341746	124341746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccctgacttcaacgatgcGgtagagcaggtcctggagga	13	10	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:124341746G>A	uc001uft.3	+	36	6253	c.6228G>A	c.(6226-6228)GCG>GCA	p.A2076A		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2076	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCAACGATGCGGTAGAGCAGG	0.527													A	124341746	G	A	124341746	2	1	11	1	0	0	0	0	0	0	0	1	4598	1103	39	1		1	DNAH10	12	124341746	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	83008	124341746	9510149	789	9628											
FZD10	11211	broad.mit.edu	37	chr12	130648883	130648883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcctgctacttttacgaaCgcctcaacatggattactgg	8	12	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:130648883C>T	uc001uii.2	+	1	1852	c.1396C>T	c.(1396-1398)CGC>TGC	p.R466C	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	466	Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CTTTTACGAACGCCTCAACAT	0.557													T	130648883	C	T	130648883	3	4	11	1	0	0	0	0	1	0	0	0	6129	536	19	1	1398	1	FZD10	12	130648883	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	6307137	130648883	3203012	790	9629											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20221160	20221160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgagaagcccctagacaGtgccatgagtgctgaggagg	14	9	0	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:20221160G>A	uc001umh.2	+	3	956	c.947G>A	c.(946-948)AGT>AAT	p.S316N	MPHOSPH8_uc001umf.1_Missense_Mutation_p.S316N|MPHOSPH8_uc001umg.2_Missense_Mutation_p.S316N|MPHOSPH8_uc001umi.2_Missense_Mutation_p.S13N	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	316					cell cycle	cytoplasm|nucleus					0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		CCCCTAGACAGTGCCATGAGT	0.517													A	20221160	G	A	20221160	3	1	11	1	0	0	0	0	1	0	0	0	9727	1029	36	4	957	4	MPHOSPH8	13	20221160	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08		20221160	94948718	791	9630											
XPO4	64328	broad.mit.edu	37	chr13	21396376	21396376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaagctaactgggcaaggCactgcagagaatcttgtgcc	13	9	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:21396376C>T	uc001unq.3	-	8	929	c.893G>A	c.(892-894)TGC>TAC	p.C298Y		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	298					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		CTGGGCAAGGCACTGCAGAGA	0.373													T	21396376	C	T	21396376	3	4	11	1	0	0	0	0	1	0	0	0	17443	710	25	2	2626	2	XPO4	13	21396376	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1175216	21396376	93773502	792	9631											
SACS	26278	broad.mit.edu	37	chr13	23906662	23906662	+	Frame_Shift_Del	DEL	T	T	-													caactgaaaacgaaattcccTtttttctgcactgaggaatt							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:23906661_23906661CT>C	uc001uon.2	-	9	11943	c.11354_11354AG>G	c.(11353-11355)aggfs	p.R3785fs	SACS_uc001uoo.2_Frame_Shift_Del_p.R3638fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3785					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACGAAATTCCCTTTTTTCTGC	0.388													-	23906662	T	-	23906662	7	5	11	1	0	1	0	1	0	0	0	0	13804	1608	56	0	2390	0	SACS	13	23906662	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	2510286	23906662	91263216	793	9632											
SACS	26278	broad.mit.edu	37	chr13	23915477	23915477	+	Frame_Shift_Del	DEL	T	T	-													ttaaggacaaaccctccaagTttttgtacaatgtctgctaa							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:23915476_23915476GT>G	uc001uon.2	-	9	3128	c.2539_2539AC>C	c.(2539-2541)cttfs	p.L847fs	SACS_uc001uoo.2_Frame_Shift_Del_p.L700fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	847					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACCCTCCAAGTTTTTGTACA	0.343													-	23915477	T	-	23915477	7	5	11	1	0	1	0	1	0	0	0	0	13804	1722	60	0	11205	0	SACS	13	23915477	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	8815	23915477	91254401	794	9633											
PARP4	143	broad.mit.edu	37	chr13	25077812	25077812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacgaaaaggaaaactttcCgccattttccttaatgtcag	6	9	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:25077812C>T	uc001upl.2	-	2	209	c.103G>A	c.(103-105)GGA>AGA	p.G35R	PARP4_uc010tdc.1_Missense_Mutation_p.G35R	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	35	BRCT.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GAAAACTTTCCGCCATTTTCC	0.383													T	25077812	C	T	25077812	3	4	11	1	0	0	0	0	1	0	0	0	11463	661	23	1	5203	1	PARP4	13	25077812	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1162335	25077812	90092066	795	9634											
PABPC3	5042	broad.mit.edu	37	chr13	25670802	25670802	+	Frame_Shift_Del	DEL	A	A	-													aagcagctgaaagagctattAaaaaaatgaacggaatgctc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:25670801_25670801TA>T	uc001upy.3	+	0	526	c.465_465TA>T	c.(463-465)attfs	p.I155fs		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	155	RRM 2.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAAGAGCTATTAAAAAAATGA	0.398													-	25670802	A	-	25670802	7	5	11	1	0	1	0	1	0	0	0	0	11365	363	13	0	468	0	PABPC3	13	25670802	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	592990	25670802	89499076	796	9635											
FAM123A	219287	broad.mit.edu	37	chr13	25745590	25745590	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttccccgacggcggctcGgcggccggcgtttcggcggc	16	16	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:25745590G>A	uc001uqb.2	-	1	268	c.168C>T	c.(166-168)GCC>GCT	p.A56A	FAM123A_uc001uqa.2_Silent_p.A56A|FAM123A_uc001uqc.2_Silent_p.A56A	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	56	Gly-rich.									ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ACGGCGGCTCGGCGGCCGGCG	0.597													A	25745590	G	A	25745590	2	1	11	1	0	0	0	0	0	0	0	1	5422	1103	39	1		1	FAM123A	13	25745590	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	74788	25745590	89424288	797	9636											
MTUS2	23281	broad.mit.edu	37	chr13	29598991	29598991	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcctctcatgacgagtccaaGacatgtgacctgggagatga	11	10	1	5			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:29598991G>A	uc001usl.3	+	1	244	c.186G>A	c.(184-186)AAG>AAA	p.K62K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	52						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						ACGAGTCCAAGACATGTGACC	0.418													A	29598991	G	A	29598991	2	1	11	1	0	0	0	0	0	0	0	1	9966	933	33	4		4	MTUS2	13	29598991	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3853401	29598991	85570887	798	9637											
HSPH1	10808	broad.mit.edu	37	chr13	31719831	31719831	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaaatgccatgggtgtTgactcgcactttgactttta	11	7	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:31719831T>C	uc001utj.2	-	11	1851	c.1453A>G	c.(1453-1455)AAC>GAC	p.N485D	HSPH1_uc001utk.2_Missense_Mutation_p.N485D|HSPH1_uc010aaw.2_Missense_Mutation_p.N444D|HSPH1_uc001utl.2_Missense_Mutation_p.N487D|HSPH1_uc010tds.1_Missense_Mutation_p.N409D	NM_006644	NP_006635	Q92598	HS105_HUMAN	heat shock 105kD	485					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding				0		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CCATGGGTGTTGACTCGCACT	0.418													C	31719831	T	C	31719831	3	2	11	1	0	0	0	0	1	0	0	0	7431	1812	63	3	1155	3	HSPH1	13	31719831	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	2120840	31719831	83450047	799	9638											
PDS5B	23047	broad.mit.edu	37	chr13	33258137	33258137	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcacttacttaattttgtgAgagagagaacattagacaaa	7	5	1	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:33258137A>T	uc010abf.2	+	11	1338	c.1180A>T	c.(1180-1182)AGA>TGA	p.R394*	PDS5B_uc001uuo.2_Nonsense_Mutation_p.R394*|PDS5B_uc010abg.2_RNA|PDS5B_uc010teb.1_Nonsense_Mutation_p.R96*	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	394	HEAT.			R -> G (in Ref. 2; AAD22134).	cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TAATTTTGTGAGAGAGAGAAC	0.269													T	33258137	A	T	33258137	4	4	11	1	0	0	0	0	0	1	0	0	11692	296	11	5	1218	5	PDS5B	13	33258137	Nonsense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	1538306	33258137	81911741	800	9639											
PDS5B	23047	broad.mit.edu	37	chr13	33344698	33344698	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaggagagcacagcagaGgtaagcatgtgtaactctaa	12	7	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:33344698G>T	uc010abf.2	+	32	4222	c.4064G>T	c.(4063-4065)AGA>ATA	p.R1355I	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1355					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GCACAGCAGAGGTAAGCATGT	0.428													T	33344698	G	T	33344698	3	4	11	1	0	0	0	0	1	0	0	0	11692	1014	35	5	4186	5	PDS5B	13	33344698	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	86561	33344698	81825180	801	9640											
SPG20	23111	broad.mit.edu	37	chr13	36905589	36905589	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcctcaaagagctctctatCatcctctggtaactcagagg	7	12	5	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:36905589C>A	uc001uvn.2	-	4	1225	c.955G>T	c.(955-957)GAT>TAT	p.D319Y	SPG20_uc010ten.1_Missense_Mutation_p.D319Y|SPG20_uc001uvm.2_Missense_Mutation_p.D319Y|SPG20_uc001uvo.2_Missense_Mutation_p.D319Y|SPG20_uc001uvq.2_Missense_Mutation_p.D319Y|SPG20_uc001uvp.2_Missense_Mutation_p.D319Y	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	319					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		AGCTCTCTATCATCCTCTGGT	0.448													A	36905589	C	A	36905589	3	1	11	1	0	0	0	0	1	0	0	0	15041	826	29	5	1073	5	SPG20	13	36905589	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3560891	36905589	78264289	802	9641											
CCNA1	8900	broad.mit.edu	37	chr13	37012843	37012843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatcacggaaggcatgcgCacgattctggtggactggct	14	10	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:37012843C>T	uc001uvr.3	+	5	1082	c.732C>T	c.(730-732)CGC>CGT	p.R244R	CCNA1_uc010teo.1_Silent_p.R200R|CCNA1_uc010abq.2_Silent_p.R200R|CCNA1_uc010abp.2_Silent_p.R200R|CCNA1_uc001uvs.3_Silent_p.R243R|CCNA1_uc010abr.2_Intron	NM_003914	NP_003905	P78396	CCNA1_HUMAN	cyclin A1 isoform a	244					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			lung(2)|skin(2)|ovary(1)	5		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AAGGCATGCGCACGATTCTGG	0.473													T	37012843	C	T	37012843	2	4	11	1	0	0	0	0	0	0	0	1	2909	697	25	2		2	CCNA1	13	37012843	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	107254	37012843	78157035	803	9642											
FAM48A	55578	broad.mit.edu	37	chr13	37618213	37618213	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaaagacaaaaattttgtAcctgagatttttctaggaga	7	4	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:37618213A>G	uc001uwg.2	-	7	644	c.396_splice	c.e7+1	p.Q132_splice	FAM48A_uc010abt.2_Splice_Site_p.Q133_splice|FAM48A_uc001uwh.2_Splice_Site_p.Q133_splice|FAM48A_uc001uwi.2_Splice_Site_p.Q132_splice|FAM48A_uc001uwj.2_Splice_Site_p.Q133_splice|FAM48A_uc001uwk.2_Splice_Site_p.Q132_splice|FAM48A_uc010tes.1_Splice_Site_p.Q120_splice|FAM48A_uc001uwl.1_Splice_Site_p.Q132_splice	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A						autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		AAAATTTTGTACCTGAGATTT	0.249													G	37618213	A	G	37618213	5	3	11	1	0	0	0	0	0	0	1	0	5572	405	14	3	2021	3	FAM48A	13	37618213	Splice_Site	SNP	A	TCGA-BR-4256-01A-01D-1126-08	605370	37618213	77551665	804	9643											
POSTN	10631	broad.mit.edu	37	chr13	38158194	38158194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctaattgggccacaagatcCgtgaaggtggtttgctgttt	12	8	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:38158194C>T	uc001uwo.3	-	9	1273	c.1155G>A	c.(1153-1155)ACG>ACA	p.T385T	POSTN_uc001uwp.3_Silent_p.T385T|POSTN_uc001uwr.2_Silent_p.T385T|POSTN_uc001uwq.2_Silent_p.T385T|POSTN_uc010teu.1_Silent_p.T385T|POSTN_uc010tev.1_Silent_p.T385T|POSTN_uc010tew.1_Silent_p.T385T|POSTN_uc010tex.1_Silent_p.T300T	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	385	FAS1 3.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CCACAAGATCCGTGAAGGTGG	0.438													T	38158194	C	T	38158194	2	4	11	1	0	0	0	0	0	0	0	1	12259	639	23	1		1	POSTN	13	38158194	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	539981	38158194	77011684	805	9644											
FREM2	341640	broad.mit.edu	37	chr13	39263555	39263555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctacagcggtttgtgattCgtatccatcctgtggatcgc	12	10	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:39263555C>T	uc001uwv.2	+	1	2383	c.2074C>T	c.(2074-2076)CGT>TGT	p.R692C		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	692	CSPG 4.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTTTGTGATTCGTATCCATCC	0.562													T	39263555	C	T	39263555	3	4	11	1	0	0	0	0	1	0	0	0	6045	884	31	1	2076	1	FREM2	13	39263555	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1105361	39263555	75906323	806	9645											
WBP4	11193	broad.mit.edu	37	chr13	41650292	41650292	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatccaaatcatcagattcGcatagtgattctgatgggga	10	7	3	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:41650292G>A	uc001uxt.2	+	8	788	c.675G>A	c.(673-675)TCG>TCA	p.S225S	WBP4_uc010tfd.1_Silent_p.S204S	NM_007187	NP_009118	O75554	WBP4_HUMAN	WW domain-containing binding protein 4	225					nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|kidney(1)	3		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		CATCAGATTCGCATAGTGATT	0.388													A	41650292	G	A	41650292	2	1	11	1	0	0	0	0	0	0	0	1	17258	1074	38	1		1	WBP4	13	41650292	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2386737	41650292	73519586	807	9646											
KBTBD6	89890	broad.mit.edu	37	chr13	41705321	41705321	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactccagtaatagggtctcGcccccccaaaatgtagatat	7	12	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:41705321G>A	uc001uxu.1	-	1	1616	c.1327C>T	c.(1327-1329)CGA>TGA	p.R443*	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Nonsense_Mutation_p.R377*|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	443	Kelch 2.						protein binding			ovary(1)|skin(1)	2		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAA	0.473													A	41705321	G	A	41705321	4	1	11	1	0	0	0	0	0	1	0	0	7997	1095	38	1	701	1	KBTBD6	13	41705321	Nonsense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	55029	41705321	73464557	808	9647											
KIAA0564	23078	broad.mit.edu	37	chr13	42303703	42303703	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acaatgcgtcttccatctgcTagaatcatttctccattttc	4	12	4	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:42303703T>A	uc001uyj.2	-	23	2683	c.2613A>T	c.(2611-2613)CTA>CTT	p.L871L	KIAA0564_uc001uyk.2_Silent_p.L871L	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	871						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TTCCATCTGCTAGAATCATTT	0.333													A	42303703	T	A	42303703	2	1	11	1	0	0	0	0	0	0	0	1	8185	1509	53	5		5	KIAA0564	13	42303703	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	598382	42303703	72866175	809	9648											
DGKH	160851	broad.mit.edu	37	chr13	42793377	42793377	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaaatagcagctggaatcGccacatgaagagcgagtatc	12	8	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:42793377G>A	uc001uyl.1	+	27	3246	c.3225G>A	c.(3223-3225)TCG>TCA	p.S1075S	DGKH_uc010tfh.1_Silent_p.S1075S|DGKH_uc001uym.1_Silent_p.S1075S|DGKH_uc010tfi.1_Silent_p.S830S|DGKH_uc010tfj.1_Silent_p.S930S|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Silent_p.S930S|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	1075					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AGCTGGAATCGCCACATGAAG	0.408													A	42793377	G	A	42793377	2	1	11	1	0	0	0	0	0	0	0	1	4470	1074	38	1		1	DGKH	13	42793377	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	489674	42793377	72376501	810	9649											
NUFIP1	26747	broad.mit.edu	37	chr13	45554925	45554925	+	Frame_Shift_Del	DEL	A	A	-													accacgatcacaggtatcacAaaaaaagtgaaaaactggtt							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:45554924_45554924CA>C	uc001uzp.2	-	2	569	c.527_527TG>G	c.(526-528)tgtfs	p.C176fs		NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA.	176					RNA processing|box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|RNA binding|identical protein binding|protein binding, bridging|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		ACAGGTATCACAAAAAAAGTG	0.308													-	45554925	A	-	45554925	7	5	11	1	0	1	0	1	0	0	0	0	10748	130	5	0	993	0	NUFIP1	13	45554925	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	2761548	45554925	69614953	811	9650											
PIBF1	10464	broad.mit.edu	37	chr13	73369613	73369613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgttcgtcgaaacctgcGtgactttgagttgacagaag	12	7	0	5			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:73369613G>A	uc001vjc.2	+	4	775	c.470G>A	c.(469-471)CGT>CAT	p.R157H	PIBF1_uc001vja.1_Missense_Mutation_p.R157H|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.R157H|PIBF1_uc010aep.2_Intron	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	progesterone-induced blocking factor 1	157						centrosome				ovary(1)|breast(1)	2		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CGAAACCTGCGTGACTTTGAG	0.338													A	73369613	G	A	73369613	3	1	11	1	0	0	0	0	1	0	0	0	11879	1145	40	1	480	1	PIBF1	13	73369613	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	27814688	73369613	41800265	812	9651											
RNF219	79596	broad.mit.edu	37	chr13	79190057	79190057	+	Frame_Shift_Del	DEL	A	A	-													tggtcagatggagagaggagAaaaaaagaagtgggtttcca							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:79190056_79190056GA>G	uc001vkw.1	-	5	1899	c.1840_1840TC>C	c.(1840-1842)ctcfs	p.L614fs	BX647243_uc001vku.1_Non-coding_Transcript|RNF219_uc010afb.1_Frame_Shift_Del_p.L424fs	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	Homo sapiens ring finger protein 219 (RNF219), mRNA.	614	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GGAGAGAGGAGAAAAAAAGAA	0.368													-	79190057	A	-	79190057	7	5	11	1	0	1	0	1	0	0	0	0	13482	243	9	0	345	0	RNF219	13	79190057	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	5820444	79190057	35979821	813	9652											
SLITRK6	84189	broad.mit.edu	37	chr13	86368997	86368997	+	Frame_Shift_Del	DEL	G	G	-													tcctttttgtcgagatgcccGggggaagtgcagaggatgtc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:86368996_86368996CG>C	uc001vll.1	-	1	2107	c.1648_1648CG>G	c.(1648-1650)gggfs	p.G550fs	SLITRK6_uc021rla.1_Frame_Shift_Del_p.G550fs	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	550	LRRCT 2.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCGAGATGCCCGGGGGAAGTG	0.453													-	86368997	G	-	86368997	7	5	11	1	0	1	0	1	0	0	0	0	14747	1103	39	0	882	0	SLITRK6	13	86368997	Frame_Shift_Del	DEL	G	TCGA-BR-4256-01A-01D-1126-08	7178940	86368997	28800881	814	9653											
GPC5	2262	broad.mit.edu	37	chr13	92345711	92345711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcatccggatggctcgccGggatgtgagtccatttggta	14	9	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:92345711G>A	uc010tif.1	+	3	962	c.596G>A	c.(595-597)CGG>CAG	p.R199Q		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	199						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATGGCTCGCCGGGATGTGAGT	0.512													A	92345711	G	A	92345711	3	1	11	1	0	0	0	0	1	0	0	0	6601	1116	39	1	606	1	GPC5	13	92345711	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	5976714	92345711	22824167	815	9654											
IPO5	3843	broad.mit.edu	37	chr13	98642694	98642694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgattttagatcaggaCgttatctgctagagctacag	9	8	3	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:98642694C>T	uc001vnf.1	+	6	637	c.572C>T	c.(571-573)ACG>ATG	p.T191M	IPO5_uc001vne.2_Missense_Mutation_p.T209M|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Missense_Mutation_p.T131M	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	191					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						TAGATCAGGACGTTATCTGCT	0.343													T	98642694	C	T	98642694	3	4	11	1	0	0	0	0	1	0	0	0	7796	536	19	1	652	1	IPO5	13	98642694	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	6296983	98642694	16527184	816	9655											
RNF113B	140432	broad.mit.edu	37	chr13	98828697	98828697	+	Frame_Shift_Del	DEL	T	T	-													tgcacttggtgacgactgggTtttggaaggcctggcgacat							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:98828696_98828696GT>G	uc001vnk.3	-	0	826	c.795_795AC>C	c.(793-795)aacfs	p.N265fs	FARP1_uc001vnh.3_Intron|FARP1_uc001vni.3_Intron|FARP1_uc001vnj.3_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	Homo sapiens ring finger protein 113B (RNF113B), mRNA.	265							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TGACGACTGGGTTTTGGAAGG	0.567													-	98828697	T	-	98828697	7	5	11	1	0	1	0	1	0	0	0	0	13428	1725	60	0	182	0	RNF113B	13	98828697	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	186003	98828697	16341181	817	9656											
NALCN	259232	broad.mit.edu	37	chr13	101742086	101742086	+	Frame_Shift_Del	DEL	A	A	-													atcatgcaacccaggaatacAaaaacatgaatatagattcc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:101742085_101742085CA>C	uc001vox.1	-	29	3607	c.3418_3418TG>G	c.(3418-3420)gtafs	p.V1140fs		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1140						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCCAGGAATACAAAAACATGA	0.353													-	101742086	A	-	101742086	7	5	11	1	0	1	0	1	0	0	0	0	10148	127	5	0	1859	0	NALCN	13	101742086	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	2913389	101742086	13427792	818	9657											
TPP2	7174	broad.mit.edu	37	chr13	103281921	103281921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatggtccatgcctgtctaCagttggttgtccaggtggaa	12	8	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:103281921C>T	uc001vpi.3	+	9	1209	c.1106C>T	c.(1105-1107)ACA>ATA	p.T369I		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	369					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGCCTGTCTACAGTTGGTTGT	0.328													T	103281921	C	T	103281921	3	4	11	1	0	0	0	0	1	0	0	0	16409	478	17	4	1140	4	TPP2	13	103281921	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1539835	103281921	11887957	819	9658											
DAOA	267012	broad.mit.edu	37	chr13	106142341	106142341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctaaggaccgcaggcagCctctagaacgaatgtggacc	11	13	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:106142341C>T	uc001vqb.2	+	4	647	c.373C>T	c.(373-375)CCT>TCT	p.P125S	DAOA_uc010tjf.1_Missense_Mutation_p.P54S|DAOA_uc001vpz.2_RNA|DAOA_uc010agd.2_RNA|DAOA_uc010tjg.1_Missense_Mutation_p.P97S|DAOA_uc001vqc.2_RNA|DAOA_uc001vqe.2_RNA	NM_172370	NP_758958	P59103	DAOA_HUMAN	D-amino acid oxidase activator isoform 1	125						Golgi apparatus					0	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					ccgcaggcagcctctagaacg	0													T	106142341	C	T	106142341	3	4	11	1	0	0	0	0	1	0	0	0	4232	739	26	2	496	2	DAOA	13	106142341	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2860420	106142341	9027537	820	9659											
ATP11A	23250	broad.mit.edu	37	chr13	113478731	113478731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatctcagaagcgatctgcCgtggaaaagtaaggctggat	12	7	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:113478731C>T	uc001vsi.3	+	10	952	c.864C>T	c.(862-864)GCC>GCT	p.A288A	ATP11A_uc001vsj.3_Silent_p.A288A|ATP11A_uc001vsm.1_Silent_p.A164A	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	288	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AGCGATCTGCCGTGGAAAAGT	0.448													T	113478731	C	T	113478731	2	4	11	1	0	0	0	0	0	0	0	1	1119	639	23	1		1	ATP11A	13	113478731	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	7336390	113478731	1691147	821	9660											
TFDP1	7027	broad.mit.edu	37	chr13	114265347	114265347	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaacggagaactcaaggtcTtcatagaccagaaccttagt	8	11	3	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:114265347T>A	uc001vtw.2	+	3	261	c.49T>A	c.(49-51)TTC>ATC	p.F17I	TFDP1_uc010tkd.1_5'UTR|TFDP1_uc010tke.1_5'UTR|TFDP1_uc001vty.3_Missense_Mutation_p.F17I|TFDP1_uc010agx.2_Missense_Mutation_p.F17I	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	transcription factor Dp-1	17					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			lung(4)|ovary(2)|skin(1)	7	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			ACTCAAGGTCTTCATAGACCA	0.448										TSP Lung(29;0.18)			A	114265347	T	A	114265347	3	1	11	1	0	0	0	0	1	0	0	0	15794	1609	56	5	55	5	TFDP1	13	114265347	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	786616	114265347	904531	822	9661											
FAM70B	348013	broad.mit.edu	37	chr13	114514859	114514859	+	Frame_Shift_Del	DEL	C	C	-													ttcccccgggggagaagccaCccccctacgcaccctgatag							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:114514858_114514858AC>A	uc001vuh.3	+	8	990	c.963_963AC>A	c.(961-963)ccafs	p.P321fs		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	321	Pro-rich.					integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			GGGAGAAGCCACCCCCCTACG	0.557													-	114514859	C	-	114514859	7	5	11	1	0	1	0	1	0	0	0	0	5606	507	18	0	998	0	FAM70B	13	114514859	Frame_Shift_Del	DEL	C	TCGA-BR-4256-01A-01D-1126-08	249512	114514859	655019	823	9662											
RASA3	22821	broad.mit.edu	37	chr13	114751195	114751195	+	Frame_Shift_Del	DEL	G	G	-													tagcgtcttgtaggtctcctGggggtcgtcaatgacgaacg					rs145099620	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:114751194_114751194TG>T	uc001vui.3	-	22	2452	c.2321_2321CA>A	c.(2320-2322)cagfs	p.Q774fs	RASA3_uc010tkk.2_Frame_Shift_Del_p.Q742fs|RASA3_uc001vuj.3_Frame_Shift_Del_p.Q391fs	NM_007368	NP_031394	Q14644	RASA3_HUMAN	Homo sapiens RAS p21 protein activator 3 (RASA3), mRNA.	774					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|calcium-release channel activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GTAGGTCTCCTGGGGGTCGTC	0.567													-	114751195	G	-	114751195	7	5	11	1	0	1	0	1	0	0	0	0	13062	1357	47	0	192	0	RASA3	13	114751195	Frame_Shift_Del	DEL	G	TCGA-BR-4256-01A-01D-1126-08	236336	114751195	418683	824	9663											
OR4Q3	441669	broad.mit.edu	37	chr14	20216515	20216515	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gataaaaccatgtggcattcCattgccttgttaaggaatga	9	7	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:20216515C>G	uc010tkt.1	+	1	929	c.929C>G	c.(928-930)CCA>CGA	p.P310R		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	310	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGGCATTCCATTGCCTTGT	0.393													G	20216515	C	G	20216515	3	3	11	1	0	0	0	0	1	0	0	0	11081	594	21	5	931	5	OR4Q3	14	20216515	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08		20216515	87133025	825	9664											
TEP1	7011	broad.mit.edu	37	chr14	20871938	20871938	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggtgcttccgagggttgtActtagccagctggtactcgt	13	11	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:20871938A>G	uc001vxe.2	-	6	1178	c.1138T>C	c.(1138-1140)TAC>CAC	p.Y380H	TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Intron	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	380	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CGAGGGTTGTACTTAGCCAGC	0.622													G	20871938	A	G	20871938	3	3	11	1	0	0	0	0	1	0	0	0	15756	391	14	3	6945	3	TEP1	14	20871938	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	655423	20871938	86477602	826	9665											
AP1G2	8906	broad.mit.edu	37	chr14	24033782	24033782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgatacccgtaggccagCtgcagagcggatatccatga	14	10	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:24033782C>T	uc001wkl.2	-	9	1247	c.910G>A	c.(910-912)GCT>ACT	p.A304T	AP1G2_uc001wkj.2_5'UTR|AP1G2_uc001wkk.3_Missense_Mutation_p.A232T|AP1G2_uc001wkn.2_5'UTR|uc001wko.1_Intron|AP1G2_uc001wkp.1_RNA|AP1G2_uc010tnp.1_Missense_Mutation_p.A304T	NM_003917	NP_003908	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2	304					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			ovary(1)	1	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CGTAGGCCAGCTGCAGAGCGG	0.592													T	24033782	C	T	24033782	3	4	11	1	0	0	0	0	1	0	0	0	733	797	28	2	1503	2	AP1G2	14	24033782	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3161844	24033782	83315758	827	9666											
TM9SF1	10548	broad.mit.edu	37	chr14	24664214	24664214	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccaacttcgagggttcccTacgactgtcatccttaaggc	8	14	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:24664214T>C	uc001wnb.1	-	2	360	c.12A>G	c.(10-12)GTA>GTG	p.V4V	TM9SF1_uc010toa.1_Intron|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Silent_p.V239V|TM9SF1_uc001wnc.2_Silent_p.V4V|TM9SF1_uc001wnd.2_5'Flank	NM_006405	NP_006396	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1 isoform a	4					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0183)		GAGGGTTCCCTACGACTGTCA	0.557													C	24664214	T	C	24664214	2	2	11	1	0	0	0	0	0	0	0	1	15974	1509	53	3		3	TM9SF1	14	24664214	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	630432	24664214	82685326	828	9667											
NOVA1	4857	broad.mit.edu	37	chr14	27064621	27064621	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccattgcacctacctgggTaaaaatctttggacttagac	7	11	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:27064621T>C	uc001wpy.2	-	2	593	c.275A>G	c.(274-276)TAC>TGC	p.Y92C	NOVA1_uc001wpz.2_Missense_Mutation_p.Y92C|NOVA1_uc001wqa.2_5'UTR|NOVA1_uc001wqb.2_Missense_Mutation_p.Y92C	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	95	KH 1.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5				GBM - Glioblastoma multiforme(265;0.0135)		CCTACCTGGGTAAAAATCTTT	0.408													C	27064621	T	C	27064621	3	2	11	1	0	0	0	0	1	0	0	0	10554	1638	57	3	1295	3	NOVA1	14	27064621	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	2400407	27064621	80284919	829	9668											
ARHGAP5	394	broad.mit.edu	37	chr14	32561281	32561281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacaaatatatcactgaggCtgatagcaaagaggtatatg	9	6	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:32561281C>T	uc001wrl.2	+	2	1645	c.1406C>T	c.(1405-1407)GCT>GTT	p.A469V	ARHGAP5_uc001wrm.2_Missense_Mutation_p.A469V|ARHGAP5_uc001wrn.2_Missense_Mutation_p.A469V|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	469	FF 3.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATCACTGAGGCTGATAGCAAA	0.373													T	32561281	C	T	32561281	3	4	11	1	0	0	0	0	1	0	0	0	886	797	28	2	1408	2	ARHGAP5	14	32561281	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	5496660	32561281	74788259	830	9669											
ARHGAP5	394	broad.mit.edu	37	chr14	32623920	32623920	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacctgattttgaaaatcgAgagtttctgtctactactaa	7	7	2	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:32623920A>G	uc001wrl.2	+	7	4514	c.4275A>G	c.(4273-4275)CGA>CGG	p.R1425R	ARHGAP5_uc001wrm.2_Silent_p.R1424R|ARHGAP5_uc001wrn.2_Silent_p.R1425R|ARHGAP5_uc001wro.2_Silent_p.R164R|ARHGAP5_uc001wrp.2_Silent_p.R160R	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	1425	Rho-GAP.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTGAAAATCGAGAGTTTCTGT	0.353													G	32623920	A	G	32623920	2	3	11	1	0	0	0	0	0	0	0	1	886	291	11	3		3	ARHGAP5	14	32623920	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	62639	32623920	74725620	831	9670											
PAX9	5083	broad.mit.edu	37	chr14	37145642	37145642	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtagtcattctgtcacGgcttccgcgctctgatggga	13	10	4	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:37145642G>A	uc001wty.3	+	5	1728	c.1011G>A	c.(1009-1011)ACG>ACA	p.T337T	PAX9_uc010amq.2_RNA	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	337					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		ATTCTGTCACGGCTTCCGCGC	0.592													A	37145642	G	A	37145642	2	1	11	1	0	0	0	0	0	0	0	1	11486	1103	39	1		1	PAX9	14	37145642	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	4521722	37145642	70203898	832	9671											
PNN	5411	broad.mit.edu	37	chr14	39650999	39650999	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtctatatcagagagtagtCgatcaggcaaaagatcttca	10	7	5	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:39650999C>T	uc001wuw.3	+	9	2183	c.2086C>T	c.(2086-2088)CGA>TGA	p.R696*		NM_002687	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	696	Ser-rich.|Arg-rich.|Necessary for interaction with PPIG.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			ovary(1)	1	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AGAGAGTAGTCGATCAGGCAA	0.403													T	39650999	C	T	39650999	4	4	11	1	0	0	0	0	0	1	0	0	12160	876	31	1	2120	1	PNN	14	39650999	Nonsense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2505357	39650999	67698541	833	9672											
FAM179B	23116	broad.mit.edu	37	chr14	45432443	45432443	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggagacagaagaagaatcTgagacagctttctccgcact	10	10	2	5			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:45432443T>G	uc001wvv.2	+	1	1028	c.819T>G	c.(817-819)TCT>TCG	p.S273S	FAM179B_uc001wvw.2_Silent_p.S273S|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Silent_p.S273S|FAM179B_uc001wvu.2_Silent_p.S273S	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	273							binding			skin(2)|upper_aerodigestive_tract(1)	3						AAGAAGAATCTGAGACAGCTT	0.488													G	45432443	T	G	45432443	2	3	11	1	0	0	0	0	0	0	0	1	5506	1567	55	5		5	FAM179B	14	45432443	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	5781444	45432443	61917097	834	9673											
FKBP3	2287	broad.mit.edu	37	chr14	45599948	45599948	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaaccaagtggtccttgTtagctgtcttggccacattt	9	10	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:45599948T>G	uc010tqf.1	-	2	237	c.164A>C	c.(163-165)AAC>ACC	p.N55T		NM_002013	NP_002004	Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	55					protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity				0						GTGGTCCTTGTTAGCTGTCTT	0.338													G	45599948	T	G	45599948	3	3	11	1	0	0	0	0	1	0	0	0	5909	1725	60	5	534	5	FKBP3	14	45599948	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	167505	45599948	61749592	835	9674											
SOS2	6655	broad.mit.edu	37	chr14	50585272	50585274	+	In_Frame_Del	DEL	AGG	AGG	-													acccttggagagggtgtgctAggaggagtgcttggcgaatt							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:50585271_50585273TAGG>T	uc001wxs.4	-	22	3886_3888	c.3788_3790CCTA>A	c.(3787-3792)cctagc>cAgc	p.1263_1264PS>Q	SOS2_uc010ans.3_In_Frame_Del_p.98_99PS>Q|SOS2_uc010tql.2_In_Frame_Del_p.1230_1231PS>Q|METTL21D_uc001wxn.1_5'Flank|METTL21D_uc001wxp.1_5'Flank|METTL21D_uc001wxq.1_5'Flank|METTL21D_uc001wxo.1_5'Flank	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	1263					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding	p.S1264N(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GAGGGTGTGCTAGGAGGAGTGCT	0.512													-	50585274	AGG	-	50585272	7	5	11	1	0	1	0	1	0	0	0	0	14937	407	15	0	213	0	SOS2	14	50585272	In_Frame_Del	DEL	AGG	TCGA-BR-4256-01A-01D-1126-08	4985324	50585272	56764268	836	9675											
NID2	22795	broad.mit.edu	37	chr14	52520915	52520915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagcatggctgaaggaacGtcccaggggaacagaagagt	15	7	0	3	rs147980330		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:52520915G>A	uc001wzo.2	-	4	1126	c.892C>T	c.(892-894)CGT>TGT	p.R298C	NID2_uc010tqs.1_Missense_Mutation_p.R298C|NID2_uc010tqt.1_Missense_Mutation_p.R298C|NID2_uc001wzp.2_Missense_Mutation_p.R298C	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	298						basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGAAGGAACGTCCCAGGGGA	0.517													A	52520915	G	A	52520915	3	1	11	1	0	0	0	0	1	0	0	0	10415	1145	40	1	3311	1	NID2	14	52520915	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1935643	52520915	54828625	837	9676											
PELI2	57161	broad.mit.edu	37	chr14	56757145	56757145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtacaccttgcgagaaAccaggtcggcccagcaacga	11	12	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:56757145A>G	uc001xch.2	+	5	953	c.667A>G	c.(667-669)ACC>GCC	p.T223A		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	pellino 2	223					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			ovary(1)	1						CTTGCGAGAAACCAGGTCGGC	0.562													G	56757145	A	G	56757145	3	3	11	1	0	0	0	0	1	0	0	0	11722	43	2	3	685	3	PELI2	14	56757145	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	4236230	56757145	50592395	838	9677											
GPR135	64582	broad.mit.edu	37	chr14	59930803	59930803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtagatgacagggttgatgGccccattggcccaggtcagc	14	11	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:59930803G>A	uc010apj.2	-	1	1257	c.1142C>T	c.(1141-1143)GCC>GTC	p.A381V	GPR135_uc001xed.2_RNA	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	381	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.134)		AGGGTTGATGGCCCCATTGGC	0.652													A	59930803	G	A	59930803	3	1	11	1	0	0	0	0	1	0	0	0	6644	1203	42	2	346	2	GPR135	14	59930803	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3173658	59930803	47418737	839	9678											
RTN1	6252	broad.mit.edu	37	chr14	60074086	60074086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatggtggctgagagtgcGgccagggccaggtaggccac	18	10	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:60074086G>A	uc001xen.1	-	4	2099	c.1890C>T	c.(1888-1890)GCC>GCT	p.A630A	RTN1_uc001xem.1_Silent_p.A210A|RTN1_uc001xek.1_Silent_p.A62A|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Silent_p.A47A	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	630	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTGAGAGTGCGGCCAGGGCCA	0.562													A	60074086	G	A	60074086	2	1	11	1	0	0	0	0	0	0	0	1	13725	1103	39	1		1	RTN1	14	60074086	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	143283	60074086	47275454	840	9679											
SIX6	4990	broad.mit.edu	37	chr14	60976498	60976498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgcgcaccatttgggacGgcgaacagaagacacactgc	12	13	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:60976498G>A	uc001xfa.3	+	1	561	c.382G>A	c.(382-384)GGC>AGC	p.G128S		NM_007374	NP_031400	O95475	SIX6_HUMAN	SIX homeobox 6	128	Homeobox.				organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.088)		CATTTGGGACGGCGAACAGAA	0.582													A	60976498	G	A	60976498	3	1	11	1	0	0	0	0	1	0	0	0	14351	1116	39	1	384	1	SIX6	14	60976498	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	902412	60976498	46373042	841	9680											
KCNH5	27133	broad.mit.edu	37	chr14	63417018	63417018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccagcactggtattgtagCgatatggagtcccaatgctc	10	11	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:63417018C>T	uc001xfx.2	-	7	1253	c.1202G>A	c.(1201-1203)CGC>CAC	p.R401H	KCNH5_uc001xfy.2_Missense_Mutation_p.R401H|KCNH5_uc001xfz.1_Missense_Mutation_p.R343H|KCNH5_uc001xga.2_Missense_Mutation_p.R343H	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	401	Extracellular (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGTATTGTAGCGATATGGAGT	0.468													T	63417018	C	T	63417018	3	4	11	1	0	0	0	0	1	0	0	0	8035	768	27	1	1818	1	KCNH5	14	63417018	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2440520	63417018	43932522	842	9681											
SYNE2	23224	broad.mit.edu	37	chr14	64518919	64518919	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctcccagatgacattctttCacagatcagaaagtgcaaag	7	10	4	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:64518919C>T	uc001xgm.2	+	48	8518	c.8288C>T	c.(8287-8289)TCA>TTA	p.S2763L	SYNE2_uc001xgl.2_Missense_Mutation_p.S2763L	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2763	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GACATTCTTTCACAGATCAGA	0.438													T	64518919	C	T	64518919	3	4	11	1	0	0	0	0	1	0	0	0	15443	838	29	4	8474	4	SYNE2	14	64518919	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1101901	64518919	42830621	843	9682											
PLEKHG3	26030	broad.mit.edu	37	chr14	65208660	65208660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatctcagatgctgagttcCgcccatcttcagaaattgtg	8	12	3	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:65208660C>T	uc001xho.1	+	16	2694	c.2425C>T	c.(2425-2427)CGC>TGC	p.R809C	PLEKHG3_uc001xhn.1_Missense_Mutation_p.R753C|PLEKHG3_uc001xhp.2_Missense_Mutation_p.R930C|PLEKHG3_uc010aqh.1_Missense_Mutation_p.R351C|PLEKHG3_uc001xhq.1_Missense_Mutation_p.R314C	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	809					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TGCTGAGTTCCGCCCATCTTC	0.617													T	65208660	C	T	65208660	3	4	11	1	0	0	0	0	1	0	0	0	12070	652	23	1	2307	1	PLEKHG3	14	65208660	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	689741	65208660	42140880	844	9683											
ENTPD5	957	broad.mit.edu	37	chr14	74449797	74449797	+	Frame_Shift_Del	DEL	T	T	-													cctttaggaccactggggtcTttttccagtgacttcggggg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:74449796_74449796CT>C	uc010tuo.2	-	5	677	c.366_366AG>G	c.(364-366)aagfs	p.K122fs	ENTPD5_uc001xpi.3_Frame_Shift_Del_p.K122fs	NM_001249	NP_001240	O75356	ENTP5_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 5 (ENTPD5), mRNA.	122					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		CCACTGGGGTCTTTTTCCAGT	0.483													-	74449797	T	-	74449797	7	5	11	1	0	1	0	1	0	0	0	0	5142	1609	56	0	965	0	ENTPD5	14	74449797	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	9241137	74449797	32899743	845	9684											
TMEM90A	646658	broad.mit.edu	37	chr14	74874351	74874351	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagagggcccggcgggaggTggtgctggccaggcggaagt	22	8	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:74874351T>C	uc001xpx.2	-	4	852	c.604A>G	c.(604-606)ACC>GCC	p.T202A		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	transmembrane protein 90A	202					response to biotic stimulus	Golgi apparatus|integral to membrane					0				BRCA - Breast invasive adenocarcinoma(234;0.00159)		CGGCGGGAGGTGGTGCTGGCC	0.632													C	74874351	T	C	74874351	3	2	11	1	0	0	0	0	1	0	0	0	16215	1696	59	3	116	3	TMEM90A	14	74874351	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	424554	74874351	32475189	846	9685											
YLPM1	56252	broad.mit.edu	37	chr14	75230817	75230819	+	In_Frame_Del	DEL	TCC	TCC	-													cgcccaccccttcttactcaTcctcctcctcttcctcgcaa							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:75230816_75230818ATCC>A	uc001xqj.4	+	0	748_750	c.624_626ATCC>A	c.(622-627)tcatcc>tcAc	p.208_209SS>S		NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTTCTTACTCATCCTCCTCCTCT	0.601													-	75230819	TCC	-	75230817	7	5	11	1	0	1	0	1	0	0	0	0	17483	1435	50	0	627	0	YLPM1	14	75230817	In_Frame_Del	DEL	TCC	TCGA-BR-4256-01A-01D-1126-08	356466	75230817	32118723	847	9686											
C14orf145	145508	broad.mit.edu	37	chr14	81251580	81251580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtttagctttgtcctgggCctggctcttcttgagctctg	11	10	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:81251580C>T	uc001xux.2	-	14	2041	c.1870G>A	c.(1870-1872)GCC>ACC	p.A624T	C14orf145_uc010asz.1_RNA	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	624	Potential.					centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		TTGTCCTGGGCCTGGCTCTTC	0.463													T	81251580	C	T	81251580	3	4	11	1	0	0	0	0	1	0	0	0	1749	739	26	2	1458	2	C14orf145	14	81251580	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	6020763	81251580	26097960	848	9687											
ZC3H14	79882	broad.mit.edu	37	chr14	89073629	89073629	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagaaaccagaaaaacTtttggagcgctgcaagtact	10	9	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:89073629T>A	uc001xww.2	+	13	2015	c.1790T>A	c.(1789-1791)CTT>CAT	p.L597H	ZC3H14_uc010twd.1_Missense_Mutation_p.L597H|ZC3H14_uc010twe.1_Missense_Mutation_p.L592H|ZC3H14_uc001xwx.2_Missense_Mutation_p.L441H|ZC3H14_uc010twf.1_Missense_Mutation_p.L311H|ZC3H14_uc001xwy.2_Missense_Mutation_p.L432H|ZC3H14_uc010twg.1_Missense_Mutation_p.L286H|ZC3H14_uc001xxa.2_Missense_Mutation_p.L142H|ZC3H14_uc001xxc.2_Missense_Mutation_p.L141H|ZC3H14_uc001xxb.2_Missense_Mutation_p.L168H	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14 isoform 1	597	C3H1-type 1.					cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			ovary(2)|skin(1)	3						CCAGAAAAACTTTTGGAGCGC	0.453													A	89073629	T	A	89073629	3	1	11	1	0	0	0	0	1	0	0	0	17563	1609	56	5	2229	5	ZC3H14	14	89073629	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	7822049	89073629	18275911	849	9688											
CCDC88C	440193	broad.mit.edu	37	chr14	91773527	91773527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagttctgcaagtgctgcCcctctccctggttctgcctg	10	14	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:91773527C>T	uc010aty.2	-	18	3149	c.3050G>A	c.(3049-3051)GGG>GAG	p.G1017E		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	1017	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				CAAGTGCTGCCCCTCTCCCTG	0.607													T	91773527	C	T	91773527	3	4	11	1	0	0	0	0	1	0	0	0	2865	623	22	4	3088	4	CCDC88C	14	91773527	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2699898	91773527	15576013	850	9689											
SERPINA1	5265	broad.mit.edu	37	chr14	94844885	94844885	+	Frame_Shift_Del	DEL	G	G	-													ggtttgttgaacttgacctcGggggggatagacatgggtat					rs121912712		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:94844884_94844884CG>C	uc001ycy.4	-	6	1713	c.1159_1159CG>G	c.(1159-1161)gagfs	p.E387fs	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Frame_Shift_Del_p.E387fs|SERPINA1_uc010auy.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc001ycz.4_Frame_Shift_Del_p.E387fs|SERPINA1_uc010auz.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc010ava.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc001ydb.4_Frame_Shift_Del_p.E387fs|SERPINA1_uc010avb.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc001ydc.4_Frame_Shift_Del_p.E387fs|SERPINA1_uc010auw.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc010aux.3_Frame_Shift_Del_p.E387fs	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	387	RCL.		E -> K (in Christchurch).		acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	AACTTGACCTCGGGGGGGATA	0.488													-	94844885	G	-	94844885	7	5	11	1	0	1	0	1	0	0	0	0	14086	1103	39	0	102	0	SERPINA1	14	94844885	Frame_Shift_Del	DEL	G	TCGA-BR-4256-01A-01D-1126-08	3071358	94844885	12504655	851	9690											
SERPINA9	327657	broad.mit.edu	37	chr14	94936051	94936051	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgttgagggaatacacctGtgaggcaggggtgctctttg	17	6	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:94936051G>A	uc001ydf.2	-	2	342	c.181C>T	c.(181-183)CAG>TAG	p.Q61*	SERPINA9_uc001yde.2_Nonsense_Mutation_p.Q61*|SERPINA9_uc010avc.2_Intron|SERPINA9_uc001ydg.2_Intron|SERPINA9_uc001ydh.1_Nonsense_Mutation_p.Q61*|SERPINA9_uc001ydi.1_Intron	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	serine (or cysteine) proteinase inhibitor, clade	43					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			lung(1)|central_nervous_system(1)	2		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GAATACACCTGTGAGGCAGGG	0.577													A	94936051	G	A	94936051	4	1	11	1	0	0	0	0	0	1	0	0	14095	1386	48	4	1142	4	SERPINA9	14	94936051	Nonsense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	91166	94936051	12413489	852	9691											
SERPINA12	145264	broad.mit.edu	37	chr14	94964289	94964289	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttggcatcttccaaaaacTtacgctgtggctgcagcctc	8	13	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:94964289T>G	uc001ydj.2	-	3	1242	c.446A>C	c.(445-447)AAG>ACG	p.K149T		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	149					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(2)|ovary(1)|lung(1)	4				COAD - Colon adenocarcinoma(157;0.235)		TTCCAAAAACTTACGCTGTGG	0.458													G	94964289	T	G	94964289	3	3	11	1	0	0	0	0	1	0	0	0	14089	1609	56	5	814	5	SERPINA12	14	94964289	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	28238	94964289	12385251	853	9692											
SERPINA3	12	broad.mit.edu	37	chr14	95090098	95090098	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgatgatcattgtccctacaGacacccagaacatcttcttc	5	13	3	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:95090098G>A	uc001ydp.2	+	5	1298	c.1219G>A	c.(1219-1221)GAC>AAC	p.D407N	SERPINA3_uc001ydo.3_Missense_Mutation_p.D432N|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.D407N|SERPINA3_uc001yds.2_Missense_Mutation_p.D407N|SERPINA3_uc010avg.2_Missense_Mutation_p.D407N	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	407					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.D407N(1)		ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TGTCCCTACAGACACCCAGAA	0.493													A	95090098	G	A	95090098	3	1	11	1	0	0	0	0	1	0	0	0	14090	942	33	4	1233	4	SERPINA3	14	95090098	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	125809	95090098	12259442	854	9693											
DICER1	23405	broad.mit.edu	37	chr14	95569719	95569719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgaaaggcggccctcatgCgcatcagggtaagtgcaaaa	12	9	2	1	rs143454689		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:95569719C>T	uc001ydw.2	-	22	4196	c.4014G>A	c.(4012-4014)GCG>GCA	p.A1338A	DICER1_uc010avh.1_Silent_p.A236A|DICER1_uc001ydv.2_Silent_p.A1328A|DICER1_uc001ydx.2_Silent_p.A1338A|DICER1_uc001ydy.1_Silent_p.A190A	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1338	RNase III 1.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GGCCCTCATGCGCATCAGGGT	0.413			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				T	95569719	C	T	95569719	2	4	11	1	0	0	0	0	0	0	0	1	4521	755	27	1		1	DICER1	14	95569719	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	479621	95569719	11779821	855	9694											
BDKRB1	623	broad.mit.edu	37	chr14	96731011	96731012	+	Frame_Shift_Ins	INS	-	-	C													gaactttataaacaatgcacINSccctaaaagtcttgctccaa							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:96731010_96731011A>AC	uc021sbj.1	+	0	991_992	c.991_992A>AC	c.(991-993)accfs	p.T331fs	BDKRB1_uc001yfh.3_Frame_Shift_Ins_p.T331fs	NM_000710	NP_000701	P46663	BKRB1_HUMAN	Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.	331					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TAAACAATGCACCCCTAAAAGT	0.426													C	96731012	-	C	96731011	7	5	11	1	0	1	1	0	0	0	0	0	1392	507	18	0	994	0	BDKRB1	14	96731011	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	1161292	96731011	10618529	856	9695											
AHNAK2	113146	broad.mit.edu	37	chr14	105412736	105412736	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggtcttcaggtccccctGcatggaggggaggctcactt	14	11	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:105412736G>A	uc010axc.1	-	7	9172	c.9052C>T	c.(9052-9054)CAG>TAG	p.Q3018*	AHNAK2_uc001ypx.2_Nonsense_Mutation_p.Q2918*	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3018						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)			AGGTCCCCCTGCATGGAGGGG	0.642													A	105412736	G	A	105412736	4	1	11	1	0	0	0	0	0	1	0	0	415	1328	46	2	8339	2	AHNAK2	14	105412736	Nonsense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	8681725	105412736	1936804	857	9696											
BRF1	2972	broad.mit.edu	37	chr14	105677548	105677548	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcctcgtcggcgtggTatgacacgggcccgctctcc	12	17	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:105677548T>C	uc001yqp.2	-	17	2270	c.1907A>G	c.(1906-1908)TAC>TGC	p.Y636C	BRF1_uc010tyo.1_Missense_Mutation_p.Y521C|BRF1_uc010typ.1_Missense_Mutation_p.Y543C|BRF1_uc001yqk.2_Missense_Mutation_p.Y162C|BRF1_uc001yql.2_Missense_Mutation_p.Y432C|BRF1_uc001yqo.2_Missense_Mutation_p.Y398C|BRF1_uc010axg.1_Missense_Mutation_p.Y609C|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_3'UTR	NM_001519	NP_001510	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1	636					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GTCGGCGTGGTATGACACGGG	0.687													C	105677548	T	C	105677548	3	2	11	1	0	0	0	0	1	0	0	0	1510	1638	57	3	134	3	BRF1	14	105677548	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	264812	105677548	1671992	858	9697											
BRF1	2972	broad.mit.edu	37	chr14	105692604	105692604	+	Frame_Shift_Del	DEL	T	T	-													ttaccttcaacctcctccagTttttttgacaggacttgttc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:105692603_105692603GT>G	uc001yqp.2	-	8	1303	c.940_940AC>C	c.(940-942)ctgfs	p.L314fs	BRF1_uc010tyo.1_Frame_Shift_Del_p.L199fs|BRF1_uc010typ.1_Frame_Shift_Del_p.L199fs|BRF1_uc001yql.2_Frame_Shift_Del_p.L110fs|BRF1_uc001yqo.2_Frame_Shift_Del_p.L76fs|BRF1_uc010axg.1_Frame_Shift_Del_p.L287fs|BRF1_uc001yqn.2_Non-coding_Transcript|BRF1_uc010axh.1_Non-coding_Transcript	NM_001519	NP_663718	Q92994	TF3B_HUMAN	Homo sapiens BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) (BRF1), transcript variant 1, mRNA.	314					positive regulation of transcription, DNA-dependent|rRNA transcription|tRNA transcription|transcription initiation from RNA polymerase III promoter	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		ACCTCCTCCAGTTTTTTTGAC	0.478													-	105692604	T	-	105692604	7	5	11	1	0	1	0	1	0	0	0	0	1510	1722	60	0	1134	0	BRF1	14	105692604	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	15056	105692604	1656936	859	9698											
GABRG3	2567	broad.mit.edu	37	chr15	27772702	27772702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctgtttgtcttcgccgCgctgatggagtatgccaccc	10	14	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:27772702C>T	uc001zbg.1	+	8	1155	c.989C>T	c.(988-990)GCG>GTG	p.A330V		NM_033223	NP_150092	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma	330	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity				0		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GTCTTCGCCGCGCTGATGGAG	0.547													T	27772702	C	T	27772702	3	4	11	1	0	0	0	0	1	0	0	0	6173	768	27	1	1019	1	GABRG3	15	27772702	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08		27772702	74758690	860	9699											
HERC2	8924	broad.mit.edu	37	chr15	28422236	28422236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatatcccggatacgcttggTtttcagggcctcgatcagcc	11	12	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:28422236T>C	uc001zbj.2	-	61	9398	c.9292A>G	c.(9292-9294)ACC>GCC	p.T3098A		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3098	RCC1 8.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATACGCTTGGTTTTCAGGGCC	0.542													C	28422236	T	C	28422236	3	2	11	1	0	0	0	0	1	0	0	0	7058	1725	60	3	5344	3	HERC2	15	28422236	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	649534	28422236	74109156	861	9700											
RYR3	6263	broad.mit.edu	37	chr15	34130674	34130674	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagagcaaccctgaagaacCtcaggaagcagtacaggaac	11	10	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:34130674C>A	uc001zhi.2	+	89	12563	c.12493C>A	c.(12493-12495)CTC>ATC	p.L4165I	RYR3_uc010bar.2_Missense_Mutation_p.L4160I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4165					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTGAAGAACCTCAGGAAGCA	0.517													A	34130674	C	A	34130674	3	1	11	1	0	0	0	0	1	0	0	0	13770	681	24	5	12847	5	RYR3	15	34130674	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	5708438	34130674	68400718	862	9701											
PGBD4	161779	broad.mit.edu	37	chr15	34396075	34396075	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatctgagcgcaaaagacAcaaggtttggtataagaaat	9	7	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:34396075A>G	uc001zho.2	+	1	1802	c.1343A>G	c.(1342-1344)CAC>CGC	p.H448R	C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	448											0		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		CGCAAAAGACACAAGGTTTGG	0.423													G	34396075	A	G	34396075	3	3	11	1	0	0	0	0	1	0	0	0	11783	159	6	3	1345	3	PGBD4	15	34396075	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	265401	34396075	68135317	863	9702											
C15orf55	256646	broad.mit.edu	37	chr15	34646818	34646818	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcacttggccactggggagtCagatggaaaacaagaggaag	14	7	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:34646818C>T	uc001zif.2	+	5	1318	c.1163C>T	c.(1162-1164)TCA>TTA	p.S388L	C15orf55_uc010ucc.1_Missense_Mutation_p.S416L|C15orf55_uc010ucd.1_Missense_Mutation_p.S406L	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	388						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		ACTGGGGAGTCAGATGGAAAA	0.537			T	BRD3|BRD4	lethal midline carcinoma								T	34646818	C	T	34646818	3	4	11	1	0	0	0	0	1	0	0	0	1803	838	29	4	1181	4	C15orf55	15	34646818	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	250743	34646818	67884574	864	9703											
LPCAT4	254531	broad.mit.edu	37	chr15	34654982	34654982	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcccccacgggagccataCctccacatccacaatgctgc	7	20	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:34654982C>T	uc001zig.2	-	8	895	c.801_splice	c.e8+1	p.E267_splice		NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4						phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding				0						GGGAGCCATACCTCCACATCC	0.512													T	34654982	C	T	34654982	5	4	11	1	0	0	0	0	0	0	1	0	8913	521	18	4	800	4	LPCAT4	15	34654982	Splice_Site	SNP	C	TCGA-BR-4256-01A-01D-1126-08	8164	34654982	67876410	865	9704											
GOLGA8A	23015	broad.mit.edu	37	chr15	34673666	34673666	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcatggcacacagcagttGctgcccaagcctgggtgctc	12	13	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:34673666G>A	uc001zii.2	-	16	1867	c.1758C>T	c.(1756-1758)AGC>AGT	p.S586S	GOLGA8A_uc001zih.2_Silent_p.S442S|uc001zil.2_5'Flank	NM_181077	NP_851422	A7E2F4	GOG8A_HUMAN	golgi autoantigen, golgin subfamily a, 8A	614	Golgi-targeting domain (By similarity).					Golgi cisterna membrane					0		all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CACAGCAGTTGCTGCCCAAGC	0.532													A	34673666	G	A	34673666	2	1	11	1	0	0	0	0	0	0	0	1	6563	1310	46	2		2	GOLGA8A	15	34673666	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	18684	34673666	67857726	866	9705											
AQR	9716	broad.mit.edu	37	chr15	35163101	35163101	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtacataaaaagtgctactAcatattctgcctctccaaga	5	10	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:35163101A>G	uc001ziv.2	-	31	3801	c.3620T>C	c.(3619-3621)GTA>GCA	p.V1207A		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	1207						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AAGTGCTACTACATATTCTGC	0.333													G	35163101	A	G	35163101	3	3	11	1	0	0	0	0	1	0	0	0	835	391	14	3	857	3	AQR	15	35163101	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	489435	35163101	67368291	867	9706											
AQR	9716	broad.mit.edu	37	chr15	35202476	35202476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgggctgggccattcgcGcccaaccaccaaacactaca	8	16	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:35202476G>A	uc001ziv.2	-	17	1704	c.1523C>T	c.(1522-1524)GCG>GTG	p.A508V		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	508						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GGCCATTCGCGCCCAACCACC	0.448													A	35202476	G	A	35202476	3	1	11	1	0	0	0	0	1	0	0	0	835	1087	38	1	3010	1	AQR	15	35202476	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	39375	35202476	67328916	868	9707											
EIF2AK4	440275	broad.mit.edu	37	chr15	40254062	40254062	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgtatttcaatatggggaGtcctgatcagctcatggtgc	11	8	4	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:40254062G>T	uc001zkm.1	+	7	871	c.821G>T	c.(820-822)AGT>ATT	p.S274I	EIF2AK4_uc001zkl.2_Missense_Mutation_p.S274I|EIF2AK4_uc010bbj.1_Missense_Mutation_p.S3I	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	274					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AATATGGGGAGTCCTGATCAG	0.338													T	40254062	G	T	40254062	3	4	11	1	0	0	0	0	1	0	0	0	4999	1029	36	5	847	5	EIF2AK4	15	40254062	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	5051586	40254062	62277330	869	9708											
INO80	54617	broad.mit.edu	37	chr15	41379814	41379814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgggtccaagtaggtgccGttgttgctcatagaaagggt	14	7	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:41379814G>A	uc001zni.2	-	6	817	c.604C>T	c.(604-606)CGG>TGG	p.R202W	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	202	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						AGTAGGTGCCGTTGTTGCTCA	0.428													A	41379814	G	A	41379814	3	1	11	1	0	0	0	0	1	0	0	0	7746	1144	40	1	4190	1	INO80	15	41379814	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1125752	41379814	61151578	870	9709											
ZFP106	64397	broad.mit.edu	37	chr15	42742969	42742970	+	Frame_Shift_Ins	INS	-	-	T													ccaggggaaaaaaaatttgtINStttggtgttttttgagatat							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:42742968_42742969G>GT	uc001zpw.3	-	1	1759_1760	c.1432_1433C>AC	c.(1432-1434)acafs	p.T478fs	ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Frame_Shift_Ins_p.T261fs|ZFP106_uc001zpy.1_Frame_Shift_Ins_p.T501fs	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	478						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		AAAAAAATTTGTTTTGGTGTTT	0.396													T	42742970	-	T	42742969	7	5	11	1	0	1	1	0	0	0	0	0	17634	1725	60	0	4291	0	ZFP106	15	42742969	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	1363155	42742969	59788423	871	9710											
FRMD5	84978	broad.mit.edu	37	chr15	44175946	44175946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctgcgggtcctggggaCgctgctcagccttgggccat	14	13	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:44175946C>T	uc001ztl.2	-	13	1267	c.1090G>A	c.(1090-1092)GTC>ATC	p.V364I	FRMD5_uc001ztj.1_Missense_Mutation_p.V37I|FRMD5_uc001ztk.1_Missense_Mutation_p.V270I|FRMD5_uc010uef.1_Missense_Mutation_p.V37I|FRMD5_uc001ztm.2_Missense_Mutation_p.V37I|FRMD5_uc001ztn.2_Missense_Mutation_p.V130I	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5 isoform 2	364						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		GTCCTGGGGACGCTGCTCAGC	0.537													T	44175946	C	T	44175946	3	4	11	1	0	0	0	0	1	0	0	0	6053	536	19	1	630	1	FRMD5	15	44175946	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1432977	44175946	58355446	872	9711											
SLC12A1	6557	broad.mit.edu	37	chr15	48577440	48577440	+	Frame_Shift_Del	DEL	A	A	-													acattactaagacaacgcctAaaaaaggtaagaacttttta							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:48577439_48577439TA>T	uc001zwn.4	+	20	2838	c.2622_2622TA>T	c.(2620-2622)cctfs	p.P874fs	SLC12A1_uc010uew.1_Frame_Shift_Del_p.P680fs|SLC12A1_uc010bem.3_Frame_Shift_Del_p.P874fs|SLC12A1_uc001zwq.4_Frame_Shift_Del_p.P645fs|SLC12A1_uc001zwr.4_Frame_Shift_Del_p.P601fs	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	874					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AGACAACGCCTAAAAAAGGTA	0.373													-	48577440	A	-	48577440	7	5	11	1	0	1	0	1	0	0	0	0	14382	363	13	0	2801	0	SLC12A1	15	48577440	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	4401494	48577440	53953952	873	9712											
CYP19A1	1588	broad.mit.edu	37	chr15	51514600	51514600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtccagcatgacacgacGcagaagggtcaacacgtcca	12	12	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:51514600G>A	uc001zyz.3	-	6	825	c.574C>T	c.(574-576)CGT>TGT	p.R192C	CYP19A1_uc001zza.3_Missense_Mutation_p.R192C|CYP19A1_uc001zzb.2_Missense_Mutation_p.R192C|CYP19A1_uc001zzd.2_Missense_Mutation_p.R192C|CYP19A1_uc010bey.1_Missense_Mutation_p.R192C	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	192					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	ATGACACGACGCAGAAGGGTC	0.493													A	51514600	G	A	51514600	3	1	11	1	0	0	0	0	1	0	0	0	4148	1087	38	1	961	1	CYP19A1	15	51514600	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2937160	51514600	51016792	874	9713											
DMXL2	23312	broad.mit.edu	37	chr15	51780825	51780826	+	Frame_Shift_Ins	INS	-	-	A													aggcatcattgttcctttgaINSaaagaagctttggcaaccta							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:51780824_51780825G>GA	uc010ufy.2	-	20	5196_5197	c.4971_4972C>TC	c.(4969-4974)tttcaafs	p.F1657fs	DMXL2_uc002abf.3_Frame_Shift_Ins_p.F1657fs|DMXL2_uc010bfa.3_Frame_Shift_Ins_p.F1021fs	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1657						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTGTTCCTTTGAAAAGAAGCTT	0.332													A	51780826	-	A	51780825	7	5	11	1	0	1	1	0	0	0	0	0	4595	243	9	0	4234	0	DMXL2	15	51780825	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	266225	51780825	50750567	875	9714											
KIAA1370	56204	broad.mit.edu	37	chr15	52877031	52877031	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcacttcttgtttaacaggTacagaaaaagttctttgtcg	7	7	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:52877031T>C	uc002acg.3	-	12	3141	c.2988A>G	c.(2986-2988)GTA>GTG	p.V996V	KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Silent_p.V908V|KIAA1370_uc002acf.3_Silent_p.V26V|KIAA1370_uc010ugf.1_Silent_p.V1003V	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	996											0				all cancers(107;0.0803)		GTTTAACAGGTACAGAAAAAG	0.373													C	52877031	T	C	52877031	2	2	11	1	0	0	0	0	0	0	0	1	8226	1625	57	3		3	KIAA1370	15	52877031	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	1096206	52877031	49654361	876	9715											
CCPG1	9236	broad.mit.edu	37	chr15	55652559	55652559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagccctgtggcttcctctgCcccctttcttttttccatct	5	16	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:55652559C>T	uc002acv.1	-	8	1577	c.1412G>A	c.(1411-1413)GGC>GAC	p.G471D	CCPG1_uc002acy.2_Missense_Mutation_p.G471D|CCPG1_uc002acu.1_Missense_Mutation_p.G327D|CCPG1_uc002acw.1_Missense_Mutation_p.G196D|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Missense_Mutation_p.G471D|CCPG1_uc002acz.1_Missense_Mutation_p.G471D	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2	471	Lumenal (Potential).				cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)		GCTTCCTCTGCCCCCTTTCTT	0.393													T	55652559	C	T	55652559	3	4	11	1	0	0	0	0	1	0	0	0	2938	739	26	2	865	2	CCPG1	15	55652559	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2775528	55652559	46878833	877	9716											
PRTG	283659	broad.mit.edu	37	chr15	55912260	55912260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaggacagatgtatctcatCgttggactcatgagaaaacc	10	8	2	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:55912260C>T	uc002adg.2	-	20	3451	c.3403G>A	c.(3403-3405)GAT>AAT	p.D1135N		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor	1135					multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGTATCTCATCGTTGGACTCA	0.483													T	55912260	C	T	55912260	3	4	11	1	0	0	0	0	1	0	0	0	12638	884	31	1	53	1	PRTG	15	55912260	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	259701	55912260	46619132	878	9717											
TLN2	83660	broad.mit.edu	37	chr15	62950012	62950012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctctcaccctgtctccttcGagaaagcttgtgagtttggt	10	11	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:62950012G>A	uc002alb.3	+	6	703	c.703G>A	c.(703-705)GAG>AAG	p.E235K		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	235	FERM.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						TGTCTCCTTCGAGAAAGCTTG	0.458													A	62950012	G	A	62950012	3	1	11	1	0	0	0	0	1	0	0	0	15945	1059	37	1	725	1	TLN2	15	62950012	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	7037752	62950012	39581380	879	9718											
FEM1B	10116	broad.mit.edu	37	chr15	68582325	68582325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagagctgataaaatggcGtgctgctatagtagtgaatg	13	4	0	3	rs142755987	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:68582325G>A	uc002arg.2	+	2	1244	c.629G>A	c.(628-630)CGT>CAT	p.R210H	FEM1B_uc002arh.2_Missense_Mutation_p.R130H	NM_015322	NP_056137	Q9UK73	FEM1B_HUMAN	fem-1 homolog b	210	ANK 5.				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity				0						ATAAAATGGCGTGCTGCTATA	0.473													A	68582325	G	A	68582325	3	1	11	1	0	0	0	0	1	0	0	0	5810	1145	40	1	635	1	FEM1B	15	68582325	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	5632313	68582325	33949067	880	9719											
GRAMD2	196996	broad.mit.edu	37	chr15	72456008	72456008	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtggagtccacggatgAtggagggatacaagggatgt	17	5	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:72456008A>G	uc002atq.2	-	9	715	c.691T>C	c.(691-693)TCA>CCA	p.S231P	GRAMD2_uc010bis.2_Missense_Mutation_p.S231P|GRAMD2_uc010ukh.1_Missense_Mutation_p.S25P	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	231						integral to membrane					0						TCCACGGATGATGGAGGGATA	0.537													G	72456008	A	G	72456008	3	3	11	1	0	0	0	0	1	0	0	0	6750	333	12	3	389	3	GRAMD2	15	72456008	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	3873683	72456008	30075384	881	9720											
ISLR2	57611	broad.mit.edu	37	chr15	74425657	74425657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccttccactgcggctgcGgccttgtgtggctgcaggcc	13	15	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:74425657G>A	uc002axd.2	+	4	1331	c.562G>A	c.(562-564)GGC>AGC	p.G188S	ISLR2_uc002axe.2_Missense_Mutation_p.G188S|ISLR2_uc010bjg.2_Missense_Mutation_p.G188S|ISLR2_uc010bjf.2_Missense_Mutation_p.G188S	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	188	Extracellular (Potential).|LRRCT.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						CTGCGGCTGCGGCCTTGTGTG	0.667													A	74425657	G	A	74425657	3	1	11	1	0	0	0	0	1	0	0	0	7859	1116	39	1	564	1	ISLR2	15	74425657	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1969649	74425657	28105735	882	9721											
CYP1A1	1543	broad.mit.edu	37	chr15	75012940	75012940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcacgctgaattccacccGttgcagcaggatagccagga	12	12	0	1	rs56240201	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:75012940G>A	uc002ayp.3	-	7	1551	c.1429C>T	c.(1429-1431)CGG>TGG	p.R477W	CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.R213W|CYP1A1_uc010bjx.2_Missense_Mutation_p.R213W|CYP1A1_uc002ayq.3_Missense_Mutation_p.R477W|CYP1A1_uc010bjy.2_Missense_Mutation_p.R448W	NM_000499	NP_000490	P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A,	477					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	p.R477W(1)		ovary(2)|breast(2)|pancreas(1)	5					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	AATTCCACCCGTTGCAGCAGG	0.542									Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia				A	75012940	G	A	75012940	3	1	11	1	0	0	0	0	1	0	0	0	4149	1144	40	1	113	1	CYP1A1	15	75012940	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	587283	75012940	27518452	883	9722											
PTPN9	5780	broad.mit.edu	37	chr15	75772249	75772249	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgaaactggcattgatgtAatctgtctaatgataaaaag	8	5	2	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:75772249A>G	uc002bal.2	-	9	1577	c.1069T>C	c.(1069-1071)TAC>CAC	p.Y357H		NM_002833	NP_002824	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type	357	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			lung(1)|skin(1)	2						GCATTGATGTAATCTGTCTAA	0.408													G	75772249	A	G	75772249	3	3	11	1	0	0	0	0	1	0	0	0	12794	362	13	3	732	3	PTPN9	15	75772249	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	759309	75772249	26759143	884	9723											
LINGO1	84894	broad.mit.edu	37	chr15	77906539	77906539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggcagaagaggacgacGcccaggaaagagatgaagcc	14	10	0	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:77906539G>A	uc002bct.1	-	2	1762	c.1710C>T	c.(1708-1710)GGC>GGT	p.G570G	LINGO1_uc002bcu.1_Silent_p.G564G	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	570	Helical; (Potential).				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2						AGAGGACGACGCCCAGGAAAG	0.597													A	77906539	G	A	77906539	2	1	11	1	0	0	0	0	0	0	0	1	8814	1074	38	1		1	LINGO1	15	77906539	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2134290	77906539	24624853	885	9724											
CHRNB4	1143	broad.mit.edu	37	chr15	78921959	78921959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtagaacagaggcttgcGcttgatgatgaagtcgtaag	15	5	0	5			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:78921959G>A	uc002bed.1	-	5	800	c.688C>T	c.(688-690)CGC>TGC	p.R230C	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.R48C	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	230	Extracellular (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						AGAGGCTTGCGCTTGATGATG	0.572													A	78921959	G	A	78921959	3	1	11	1	0	0	0	0	1	0	0	0	3393	1087	38	1	816	1	CHRNB4	15	78921959	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1015420	78921959	23609433	886	9725											
KIAA1199	57214	broad.mit.edu	37	chr15	81173394	81173394	+	Frame_Shift_Del	DEL	T	T	-													ggcatggcagaaggaggctaTttttttgaaaggagctgggg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:81173393_81173393AT>A	uc002bfw.1	+	4	793	c.533_533AT>A	c.(532-534)tatfs	p.Y178fs	KIAA1199_uc010unn.1_Frame_Shift_Del_p.Y178fs	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	178										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAAGGAGGCTATTTTTTTGAA	0.498													-	81173394	T	-	81173394	7	5	11	1	0	1	0	1	0	0	0	0	8213	1500	52	0	548	0	KIAA1199	15	81173394	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	2251435	81173394	21357998	887	9726											
TMC3	342125	broad.mit.edu	37	chr15	81636296	81636296	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaccagtagtcacttaAgtaccgcacgaaaagtcctc	6	14	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:81636296A>G	uc002bgo.1	-	14	1609	c.1609T>C	c.(1609-1611)TTA>CTA	p.L537L	TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Silent_p.L537L	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	537	Extracellular (Potential).					integral to membrane				ovary(1)|liver(1)	2						TAGTCACTTAAGTACCGCACG	0.448													G	81636296	A	G	81636296	2	3	11	1	0	0	0	0	0	0	0	1	15983	69	3	3		3	TMC3	15	81636296	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	462902	81636296	20895096	888	9727											
EFTUD1	79631	broad.mit.edu	37	chr15	82444608	82444608	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaacttggattccttcAgggattttgctttgatcttc	9	8	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:82444608A>G	uc002bgt.1	-	18	2356	c.2187T>C	c.(2185-2187)CCT>CCC	p.P729P	EFTUD1_uc002bgs.1_Silent_p.P100P|EFTUD1_uc002bgu.1_Silent_p.P678P	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	729					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			ovary(1)	1						GGATTCCTTCAGGGATTTTGC	0.433													G	82444608	A	G	82444608	2	3	11	1	0	0	0	0	0	0	0	1	4960	175	7	3		3	EFTUD1	15	82444608	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	808312	82444608	20086784	889	9728											
ZSCAN2	54993	broad.mit.edu	37	chr15	85163909	85163909	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcacgtaagatattctcGgaaatgcctgaaggtgaaag	11	6	2	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:85163909G>A	uc002bkr.2	+	3	709	c.483G>A	c.(481-483)TCG>TCA	p.S161S	ZSCAN2_uc010bmz.1_Silent_p.S159S|ZSCAN2_uc010bna.2_Silent_p.S11S|ZSCAN2_uc010uox.1_Silent_p.S160S|ZSCAN2_uc010uoy.1_Silent_p.S160S|ZSCAN2_uc010uoz.1_Silent_p.S160S	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	161					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		AGATATTCTCGGAAATGCCTG	0.448													A	85163909	G	A	85163909	2	1	11	1	0	0	0	0	0	0	0	1	18228	1103	39	1		1	ZSCAN2	15	85163909	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2719301	85163909	17367483	890	9729											
SLC28A1	9154	broad.mit.edu	37	chr15	85487996	85487996	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccctctacagggatcctctAcatgcccaggggggctgaag	12	13	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:85487996A>G	uc002blg.2	+	18	1974	c.1772A>G	c.(1771-1773)TAC>TGC	p.Y591C	SLC28A1_uc010bnb.2_Missense_Mutation_p.Y591C|SLC28A1_uc010upe.1_Missense_Mutation_p.Y425C|SLC28A1_uc010upf.1_Missense_Mutation_p.Y591C|SLC28A1_uc010upg.1_Intron	NM_004213	NP_004204	O00337	S28A1_HUMAN	solute carrier family 28, member 1 isoform 1	591	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGGATCCTCTACATGCCCAGG	0.602													G	85487996	A	G	85487996	3	3	11	1	0	0	0	0	1	0	0	0	14531	391	14	3	1905	3	SLC28A1	15	85487996	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	324087	85487996	17043396	891	9730											
NTRK3	4916	broad.mit.edu	37	chr15	88679207	88679207	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgtcagggtgaagccattgTcctcactcgtcacattcacc	8	14	4	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:88679207T>C	uc002bme.1	-	8	992	c.830A>G	c.(829-831)GAC>GGC	p.D277G	NTRK3_uc002bmh.2_Missense_Mutation_p.D277G|NTRK3_uc002bmf.1_Missense_Mutation_p.D277G|NTRK3_uc010upl.1_Missense_Mutation_p.D179G|NTRK3_uc010bnh.1_Missense_Mutation_p.D277G|NTRK3_uc002bmg.2_Missense_Mutation_p.D277G	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	277	Ig-like C2-type 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAAGCCATTGTCCTCACTCGT	0.478			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			C	88679207	T	C	88679207	3	2	11	1	0	0	0	0	1	0	0	0	10708	1667	58	3	1999	3	NTRK3	15	88679207	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	3191211	88679207	13852185	892	9731											
WDR93	56964	broad.mit.edu	37	chr15	90286554	90286554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagaagaacccagagaagGaggaggagcactgggcccgg	18	8	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:90286554G>A	uc002boj.2	+	17	2094	c.1993G>A	c.(1993-1995)GAG>AAG	p.E665K	WDR93_uc010bnr.2_Missense_Mutation_p.E637K|WDR93_uc010upz.1_Missense_Mutation_p.E382K	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	665					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			ovary(2)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CCCAGAGAAGGAGGAGGAGCA	0.587													A	90286554	G	A	90286554	3	1	11	1	0	0	0	0	1	0	0	0	17337	1175	41	4	2055	4	WDR93	15	90286554	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1607347	90286554	12244838	893	9732											
ASB7	140460	broad.mit.edu	37	chr15	101188577	101188577	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaattaaaattcgacaatgTataggccttcaaaacctaaa	5	8	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:101188577T>C	uc002bwk.2	+	6	1636	c.867T>C	c.(865-867)TGT>TGC	p.C289C		NM_198243	NP_937886	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box-containing protein 7	289	SOCS box.				intracellular signal transduction					skin(1)	1	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			TTCGACAATGTATAGGCCTTC	0.358													C	101188577	T	C	101188577	2	2	11	1	0	0	0	0	0	0	0	1	1028	1644	57	3		3	ASB7	15	101188577	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	10902023	101188577	1342815	894	9733											
RHBDF1	64285	broad.mit.edu	37	chr16	108543	108543	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacttgccaaagctgatgtaGggcaagaaggcgaaggagag	15	6	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:108543G>T	uc002cfl.3	-	21	2512	c.2364C>A	c.(2362-2364)CCC>CCA	p.P788P		NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	788	Helical; (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGCTGATGTAGGGCAAGAAGG	0.557													T	108543	G	T	108543	2	4	11	1	0	0	0	0	0	0	0	1	13319	987	35	5		5	RHBDF1	16	108543	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08		108543	90246210	895	9734											
NHLRC4	283948	broad.mit.edu	37	chr16	618400	618400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccatcaaggtgtaccaggGcctcaaggagctggcctgac	12	13	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:618400G>A	uc002chl.2	+	2	949	c.353G>A	c.(352-354)GGC>GAC	p.G118D	PIGQ_uc010bqw.2_Intron|PIGQ_uc002chm.2_5'Flank|PIGQ_uc002chn.2_5'Flank|PIGQ_uc002cho.2_5'Flank	NM_176677	NP_788850	P0CG21	NHLC4_HUMAN	hypothetical protein LOC283948	118	NHL 2.										0						GTGTACCAGGGCCTCAAGGAG	0.662													A	618400	G	A	618400	3	1	11	1	0	0	0	0	1	0	0	0	10408	1203	42	2	355	2	NHLRC4	16	618400	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	509857	618400	89736353	896	9735											
WDR24	84219	broad.mit.edu	37	chr16	739536	739536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacctgggctgcgtcgcgGcacacactgatggcattggc	13	14	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:739536G>A	uc002ciz.1	-	1	865	c.105C>T	c.(103-105)TGC>TGT	p.C35C		NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	97										ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)				CTGCGTCGCGGCACACACTGA	0.617													A	739536	G	A	739536	2	1	11	1	0	0	0	0	0	0	0	1	17278	1195	42	2		2	WDR24	16	739536	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	121136	739536	89615217	897	9736											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1817232	1817232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgcatggctgttgtgtaCgaccgcgtgtggtgtggcta	16	9	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:1817232C>T	uc002cmk.2	+	26	3288	c.3168C>T	c.(3166-3168)TAC>TAT	p.Y1056Y	MAPK8IP3_uc002cml.2_Silent_p.Y1050Y|MAPK8IP3_uc010uvl.1_Silent_p.Y1057Y	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	1056					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						CTGTTGTGTACGACCGCGTGT	0.627													T	1817232	C	T	1817232	2	4	11	1	0	0	0	0	0	0	0	1	9286	547	19	1		1	MAPK8IP3	16	1817232	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1077696	1817232	88537521	898	9737											
SPSB3	90864	broad.mit.edu	37	chr16	1827807	1827807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggtgtccaggtgcacgCcaatgatggagccctggccg	15	13	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:1827807C>T	uc002cmr.2	-	5	695	c.662G>A	c.(661-663)GGC>GAC	p.G221D	SPSB3_uc002cms.2_Missense_Mutation_p.G93D|SPSB3_uc002cmt.2_Missense_Mutation_p.G93D|SPSB3_uc002cmu.2_Missense_Mutation_p.G221D|SPSB3_uc002cmv.2_Missense_Mutation_p.G93D	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box	221	B30.2/SPRY.				intracellular signal transduction						0						CAGGTGCACGCCAATGATGGA	0.617													T	1827807	C	T	1827807	3	4	11	1	0	0	0	0	1	0	0	0	15113	739	26	2	413	2	SPSB3	16	1827807	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	10575	1827807	88526946	899	9738											
NLRC3	197358	broad.mit.edu	37	chr16	3591887	3591887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgagatcatcctggcccCggagtccccaatgtggtttc	10	14	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:3591887C>T	uc010btn.2	-	21	3547	c.3136G>A	c.(3136-3138)GGG>AGG	p.G1046R		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	1046	LRR 16.				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						ATCCTGGCCCCGGAGTCCCCA	0.522													T	3591887	C	T	3591887	3	4	11	1	0	0	0	0	1	0	0	0	10468	652	23	1	65	1	NLRC3	16	3591887	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1764080	3591887	86762866	900	9739											
BTBD12	84464	broad.mit.edu	37	chr16	3656500	3656500	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgccatcatctcctcttgAggatcctttgggacattttc	7	14	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:3656500A>C	uc002cvp.2	-	3	1362	c.735T>G	c.(733-735)CCT>CCG	p.P245P	BTBD12_uc002cvq.1_Silent_p.P245P	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	245	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						TCTCCTCTTGAGGATCCTTTG	0.512								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				C	3656500	A	C	3656500	2	2	11	1	0	0	0	0	0	0	0	1	1540	291	11	5		5	BTBD12	16	3656500	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	64613	3656500	86698253	901	9740											
CREBBP	1387	broad.mit.edu	37	chr16	3790455	3790455	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgagctggccaccactcGgacaaaaacctccccggctt	9	16	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:3790455G>A	uc002cvv.2	-	24	4282	c.4078C>T	c.(4078-4080)CGA>TGA	p.R1360*	CREBBP_uc002cvw.2_Nonsense_Mutation_p.R1322*	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1360	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1360*(1)		haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCCACCACTCGGACAAAAACC	0.582			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				A	3790455	G	A	3790455	4	1	11	1	0	0	0	0	0	1	0	0	3861	1124	39	1	3282	1	CREBBP	16	3790455	Nonsense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	133955	3790455	86564298	902	9741											
TXNDC11	51061	broad.mit.edu	37	chr16	11785695	11785695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagctcggcttcatgccccCggaggtctggttgacacaga	13	13	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:11785695C>T	uc010buu.1	-	9	1494	c.1432G>A	c.(1432-1434)GGG>AGG	p.G478R	TXNDC11_uc002dbg.1_Missense_Mutation_p.G451R	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	478					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						TTCATGCCCCCGGAGGTCTGG	0.562													T	11785695	C	T	11785695	3	4	11	1	0	0	0	0	1	0	0	0	16789	652	23	1	1545	1	TXNDC11	16	11785695	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	7995240	11785695	78569058	903	9742											
MKL2	57496	broad.mit.edu	37	chr16	14340951	14340951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaacgagggcagcagcagCggcccctggaagcccagccc	13	15	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:14340951C>T	uc010uza.1	+	12	1989	c.1834C>T	c.(1834-1836)CGG>TGG	p.R612W	MKL2_uc002dcg.2_Missense_Mutation_p.R612W|MKL2_uc002dcj.2_5'Flank	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	601	Potential.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5						GCAGCAGCAGCGGCCCCTGGA	0.547													T	14340951	C	T	14340951	3	4	11	1	0	0	0	0	1	0	0	0	9602	759	27	1	1872	1	MKL2	16	14340951	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2555256	14340951	76013802	904	9743											
PLA2G10	8399	broad.mit.edu	37	chr16	14766560	14766560	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctaagcagttagcaatctcCtggtcacacttgcacaacag	8	12	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:14766560C>A	uc002dcq.2	-	4	842	c.402G>T	c.(400-402)CAG>CAT	p.Q134H		NM_003561	NP_003552	O15496	PA2GX_HUMAN	phospholipase A2, group X precursor	134					arachidonic acid metabolic process|axon guidance|cholesterol homeostasis|lipid catabolic process|lysophospholipid transport|negative regulation of cholesterol efflux|negative regulation of sequence-specific DNA binding transcription factor activity|phospholipid metabolic process|positive regulation of arachidonic acid secretion|positive regulation of cellular protein metabolic process|positive regulation of lipid storage|positive regulation of prostaglandin secretion|regulation of macrophage activation	extracellular region	calcium ion binding|phospholipase A2 activity				0						TAGCAATCTCCTGGTCACACT	0.507													A	14766560	C	A	14766560	3	1	11	1	0	0	0	0	1	0	0	0	11989	680	24	5	99	5	PLA2G10	16	14766560	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	425609	14766560	75588193	905	9744											
NOMO1	23420	broad.mit.edu	37	chr16	14958558	14958558	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtacagttcttggcatcAgtttctgggaaagtctcttg	10	7	4	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:14958558A>G	uc002dcv.2	+	13	1578	c.1512A>G	c.(1510-1512)TCA>TCG	p.S504S		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	504	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1						TCTTGGCATCAGTTTCTGGGA	0.458													G	14958558	A	G	14958558	2	3	11	1	0	0	0	0	0	0	0	1	10531	175	7	3		3	NOMO1	16	14958558	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	191998	14958558	75396195	906	9745											
KIAA0430	9665	broad.mit.edu	37	chr16	15690614	15690614	+	Frame_Shift_Del	DEL	T	T	-													tgactctatttttgggttgcTttttggccgggctttccacg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:15690613_15690613CT>C	uc002ddr.3	-	26	5373	c.5166_5166AG>G	c.(5164-5166)aagfs	p.K1722fs	KIAA0430_uc002ddq.3_Frame_Shift_Del_p.K1556fs|KIAA0430_uc010uzv.2_Frame_Shift_Del_p.K1719fs|KIAA0430_uc010uzw.2_Frame_Shift_Del_p.K1722fs	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	1721						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTTTGGGTTGCTTTTTGGCCG	0.512													-	15690614	T	-	15690614	7	5	11	1	0	1	0	1	0	0	0	0	8177	1609	56	0	67	0	KIAA0430	16	15690614	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	732056	15690614	74664139	907	9746											
KIAA0430	9665	broad.mit.edu	37	chr16	15704907	15704907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtctggaatctctgataCgatgtcaatcaactcacaaa	7	9	5	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:15704907C>T	uc002ddr.2	-	19	3869	c.3676G>A	c.(3676-3678)GTA>ATA	p.V1226I	KIAA0430_uc002ddq.2_Missense_Mutation_p.V1060I|KIAA0430_uc010uzv.1_Missense_Mutation_p.V1222I|KIAA0430_uc010uzw.1_Missense_Mutation_p.V1225I	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	1225						peroxisome	nucleotide binding|RNA binding				0						ATCTCTGATACGATGTCAATC	0.403													T	15704907	C	T	15704907	3	4	11	1	0	0	0	0	1	0	0	0	8177	536	19	1	1588	1	KIAA0430	16	15704907	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	14293	15704907	74649846	908	9747											
SCNN1G	6340	broad.mit.edu	37	chr16	23200704	23200704	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggcaggtacagcaccgtTcgccaccttctagctgactt	9	14	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:23200704T>C	uc002dlm.1	+	3	469	c.330T>C	c.(328-330)GTT>GTC	p.V110V		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma	110	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ACAGCACCGTTCGCCACCTTC	0.607													C	23200704	T	C	23200704	2	2	11	1	0	0	0	0	0	0	0	1	13930	1770	62	3		3	SCNN1G	16	23200704	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	7495797	23200704	67154049	909	9748											
ERN2	10595	broad.mit.edu	37	chr16	23702513	23702524	+	Splice_Site	DEL	CAGATCTGTGGA	CAGATCTGTGGA	-													ttataggaccggaactttctCagatctgtggacagggaatt							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:23702512_23702523TCAGATCTGTGGA>T	uc002dma.4	-	21	2814	c.2645_splice	c.e21-1	p.D882_splice	ERN2_uc010bxp.3_Splice_Site_p.D830_splice	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	834	KEN.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CGGAACTTTCTCAGATCTGTGGACAGGGAATT	0.608													-	23702524	CAGATCTGTGGA	-	23702513	8	5	11	1	0	1	0	1	0	0	1	0	5238	813	29	0	283	0	ERN2	16	23702513	Splice_Site	DEL	CAGATCTGTGGA	TCGA-BR-4256-01A-01D-1126-08	501809	23702513	66652240	910	9749											
RBBP6	5930	broad.mit.edu	37	chr16	24580751	24580751	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcacaatcagaaggataatAcaaagtcaaaagagaaggag	10	5	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:24580751A>G	uc002dmh.2	+	17	3780	c.2740A>G	c.(2740-2742)ACA>GCA	p.T914A	RBBP6_uc010vcb.1_Missense_Mutation_p.T781A|RBBP6_uc002dmi.2_Missense_Mutation_p.T880A|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.T747A	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	914					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		GAAGGATAATACAAAGTCAAA	0.403													G	24580751	A	G	24580751	3	3	11	1	0	0	0	0	1	0	0	0	13103	391	14	3	2860	3	RBBP6	16	24580751	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	878238	24580751	65774002	911	9750											
ZNF48	197407	broad.mit.edu	37	chr16	30409177	30409177	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgtggcaagagcttccgGcagagttctgacctggtgaa	14	8	1	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:30409177G>A	uc002dya.1	+	2	665	c.606G>A	c.(604-606)CGG>CGA	p.R202R	ZNF48_uc002dxz.1_Silent_p.R79R	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	202	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGAGCTTCCGGCAGAGTTCTG	0.612													A	30409177	G	A	30409177	2	1	11	1	0	0	0	0	0	0	0	1	17931	1190	42	2		2	ZNF48	16	30409177	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	5828426	30409177	59945576	912	9751											
PRSS36	146547	broad.mit.edu	37	chr16	31161349	31161349	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagggggaggagcaggtgcCgggccatggcgctagagtca	19	9	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:31161349C>A	uc002ebd.2	-	1	67	c.8G>T	c.(7-9)CGG>CTG	p.R3L	PRSS36_uc010vff.1_5'Flank|PRSS36_uc010vfg.1_Missense_Mutation_p.R3L|PRSS36_uc010vfh.1_Missense_Mutation_p.R3L	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	protease, serine, 36 precursor	3					proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			ovary(1)	1						GAGCAGGTGCCGGGCCATGGC	0.642													A	31161349	C	A	31161349	3	1	11	1	0	0	0	0	1	0	0	0	12625	652	23	5	2619	5	PRSS36	16	31161349	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	752172	31161349	59193404	913	9752											
ABCC11	85320	broad.mit.edu	37	chr16	48227793	48227793	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctcatggcactcaccccCgagccctgctccaaccagta	6	20	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:48227793C>T	uc002eff.1	-	18	2855	c.2505G>A	c.(2503-2505)TCG>TCA	p.S835S	ABCC11_uc002efg.1_Silent_p.S835S|ABCC11_uc002efh.1_Silent_p.S835S|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	835	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.S835S(1)		ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CACTCACCCCCGAGCCCTGCT	0.522									Cerumen_Type				T	48227793	C	T	48227793	2	4	11	1	0	0	0	0	0	0	0	1	51	639	23	1		1	ABCC11	16	48227793	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	17066444	48227793	42126960	914	9753											
TOX3	27324	broad.mit.edu	37	chr16	52484318	52484318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattcaaccccaactgggcGctgagctgagactggttgat	11	10	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:52484318G>A	uc002egw.2	-	4	720	c.549C>T	c.(547-549)AGC>AGT	p.S183S	TOX3_uc010vgt.1_Silent_p.S178S|TOX3_uc010vgu.1_Silent_p.S183S	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	183					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity				0						CCAACTGGGCGCTGAGCTGAG	0.587													A	52484318	G	A	52484318	2	1	11	1	0	0	0	0	0	0	0	1	16376	1078	38	1		1	TOX3	16	52484318	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	4256525	52484318	37870435	915	9754											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53682876	53682876	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaagccaaatgagcttacCgactgcatatgctctggccc	8	12	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:53682876C>T	uc002ehp.2	-	16	2368	c.2304G>A	c.(2302-2304)TCG>TCA	p.S768S	RPGRIP1L_uc002eho.3_Silent_p.S768S|RPGRIP1L_uc010vgy.1_Silent_p.S768S|RPGRIP1L_uc010cbx.2_Silent_p.S768S|RPGRIP1L_uc010vgz.1_Silent_p.S768S	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	768					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				ATGAGCTTACCGACTGCATAT	0.353													T	53682876	C	T	53682876	2	4	11	1	0	0	0	0	0	0	0	1	13550	666	23	1		1	RPGRIP1L	16	53682876	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1198558	53682876	36671877	916	9755											
MMP2	4313	broad.mit.edu	37	chr16	55513508	55513508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatcatcaagttccccggCgatgtcgcccccaaaacgga	8	17	2	0	rs139082366		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:55513508C>T	uc002ehz.3	+	1	428	c.117C>T	c.(115-117)GGC>GGT	p.G39G	MMP2_uc010vhd.1_5'Flank|MMP2_uc010ccc.2_5'Flank	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	39					angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	AGTTCCCCGGCGATGTCGCCC	0.662													T	55513508	C	T	55513508	2	4	11	1	0	0	0	0	0	0	0	1	9658	755	27	1		1	MMP2	16	55513508	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1830632	55513508	34841245	917	9756											
CES7	221223	broad.mit.edu	37	chr16	55880490	55880490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtccaaaaatccacccgcGgttctttgagtctctgtccg	9	13	2	1	rs142487845	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:55880490G>A	uc002eip.2	-	13	1750	c.1601C>T	c.(1600-1602)CCG>CTG	p.P534L	CES7_uc002eio.2_Missense_Mutation_p.P484L|CES7_uc002eiq.2_Missense_Mutation_p.P295L|CES7_uc002eir.2_Missense_Mutation_p.P428L	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	534						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		ATCCACCCGCGGTTCTTTGAG	0.532													A	55880490	G	A	55880490	3	1	11	1	0	0	0	0	1	0	0	0	3272	1116	39	1	130	1	CES7	16	55880490	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	366982	55880490	34474263	918	9757											
NLRC5	84166	broad.mit.edu	37	chr16	57054633	57054633	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctggctcctcatggacccCgttggcctccagctcggcaa	12	16	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:57054633C>A	uc002ekk.1	+	3	234	c.9C>A	c.(7-9)CCC>CCA	p.P3P	NLRC5_uc010ccq.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	3					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				TCATGGACCCCGTTGGCCTCC	0.458													A	57054633	C	A	57054633	2	1	11	1	0	0	0	0	0	0	0	1	10470	639	23	5		5	NLRC5	16	57054633	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1174143	57054633	33300120	919	9758											
DOK4	55715	broad.mit.edu	37	chr16	57507884	57507884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagggtggcactgtggaCgcgctggtaaatctgctccc	15	12	1	0	rs146675149		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:57507884C>T	uc010cdb.2	-	6	965	c.667G>A	c.(667-669)GTC>ATC	p.V223I	DOK4_uc002elu.1_Missense_Mutation_p.V223I|DOK4_uc002elv.3_Missense_Mutation_p.V223I	NM_018110	NP_060580	Q8TEW6	DOK4_HUMAN	docking protein 4	223	IRS-type PTB.						insulin receptor binding			skin(1)	1						GCACTGTGGACGCGCTGGTAA	0.597													T	57507884	C	T	57507884	3	4	11	1	0	0	0	0	1	0	0	0	4699	536	19	1	325	1	DOK4	16	57507884	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	453251	57507884	32846869	920	9759											
MMP15	4324	broad.mit.edu	37	chr16	58074522	58074522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaccccaatgccatcaTggcgccgttctaccagtgga	9	15	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:58074522T>C	uc002ena.2	+	5	1803	c.830T>C	c.(829-831)ATG>ACG	p.M277T		NM_002428	NP_002419	P51511	MMP15_HUMAN	matrix metalloproteinase 15 preproprotein	277	Extracellular (Potential).				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			central_nervous_system(2)|breast(1)	3						AATGCCATCATGGCGCCGTTC	0.607													C	58074522	T	C	58074522	3	2	11	1	0	0	0	0	1	0	0	0	9654	1464	51	3	848	3	MMP15	16	58074522	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	566638	58074522	32280231	921	9760											
CA7	766	broad.mit.edu	37	chr16	66885451	66885452	+	Frame_Shift_Ins	INS	-	-	T													ggcctggctgtggttggtgtINSttttttggaggtgagtggtg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:66885450_66885451G>GT	uc002eqi.3	+	3	551_552	c.442_443G>GT	c.(442-444)gttfs	p.V148fs	AF086125_uc002eqh.3_Intron|CA7_uc002eqj.3_Frame_Shift_Ins_p.V92fs	NM_005182	NP_001014435	P43166	CAH7_HUMAN	Homo sapiens carbonic anhydrase VII (CA7), transcript variant 1, mRNA.	148					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TGTGGTTGGTGTTTTTTTGGAG	0.579													T	66885452	-	T	66885451	7	5	11	1	0	1	1	0	0	0	0	0	2522	1725	60	0	457	0	CA7	16	66885451	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	8810929	66885451	23469302	922	9761											
CTCF	10664	broad.mit.edu	37	chr16	67645339	67645339	+	Frame_Shift_Del	DEL	A	A	-													cagactatcagccaccagccAaaaaaacaaagaaaaccaaa							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:67645338_67645338CA>C	uc002etl.3	+	2	1047	c.603_603CA>C	c.(601-603)gccfs	p.A201fs	CTCF_uc010cek.3_Intron	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	201					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGCCACCAGCCAAAAAAACAA	0.473													-	67645339	A	-	67645339	7	5	11	1	0	1	0	1	0	0	0	0	4000	131	5	0	606	0	CTCF	16	67645339	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	759888	67645339	22709414	923	9762											
RANBP10	57610	broad.mit.edu	37	chr16	67763726	67763726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccatctccacaaactgcCggcacctgtggagggagcgg	12	14	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:67763726C>T	uc002eud.2	-	9	1120	c.1004G>A	c.(1003-1005)CGG>CAG	p.R335Q	RANBP10_uc010ceo.2_Missense_Mutation_p.R106Q|RANBP10_uc010vju.1_Missense_Mutation_p.R279Q|RANBP10_uc010vjv.1_Missense_Mutation_p.R218Q|RANBP10_uc010vjw.1_5'UTR	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	335	CTLH.									ovary(1)	1		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CACAAACTGCCGGCACCTGTG	0.627													T	67763726	C	T	67763726	3	4	11	1	0	0	0	0	1	0	0	0	13026	652	23	1	882	1	RANBP10	16	67763726	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	118387	67763726	22591027	924	9763											
CIRH1A	84916	broad.mit.edu	37	chr16	69184536	69184536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgagaagcagtgggtgCggacaaaaccgttccagcat	14	9	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:69184536C>T	uc002ews.3	+	7	931	c.835C>T	c.(835-837)CGG>TGG	p.R279W	CIRH1A_uc002ewr.2_Missense_Mutation_p.R279W|CIRH1A_uc002ewt.3_Missense_Mutation_p.R196W|CIRH1A_uc010cfi.2_Missense_Mutation_p.R196W|CIRH1A_uc010cfj.1_Missense_Mutation_p.R98W	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	cirhin	279						nucleolus	protein binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.125)		GCAGTGGGTGCGGACAAAACC	0.567											OREG0023906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	69184536	C	T	69184536	3	4	11	1	0	0	0	0	1	0	0	0	3434	759	27	1	857	1	CIRH1A	16	69184536	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1420810	69184536	21170217	925	9764											
FUK	197258	broad.mit.edu	37	chr16	70503177	70503177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcgggttatctgcagagCgcccgggcccagctgtggag	17	11	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:70503177C>T	uc002eyy.2	+	10	964	c.906C>T	c.(904-906)AGC>AGT	p.S302S	FUK_uc010cft.2_Silent_p.S334S|FUK_uc002eyz.2_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	302						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)				ATCTGCAGAGCGCCCGGGCCC	0.642													T	70503177	C	T	70503177	2	4	11	1	0	0	0	0	0	0	0	1	6096	767	27	1		1	FUK	16	70503177	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1318641	70503177	19851576	926	9765											
ZNF23	7571	broad.mit.edu	37	chr16	71483393	71483393	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaataagttgagagtcacAcctaaagggctctactaatt	8	7	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:71483393A>G	uc002faf.2	-	6	1349	c.535T>C	c.(535-537)TGT>CGT	p.C179R	ZNF23_uc002fad.2_Missense_Mutation_p.C121R|ZNF23_uc002fae.2_Missense_Mutation_p.C121R|ZNF23_uc010vmf.1_Missense_Mutation_p.C121R|ZNF23_uc002fag.2_Missense_Mutation_p.C121R|ZNF23_uc002fah.2_Missense_Mutation_p.C179R|ZNF23_uc002fai.2_Missense_Mutation_p.C218R	NM_145911	NP_666016	P17027	ZNF23_HUMAN	zinc finger protein 23	179	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TGAGAGTCACACCTAAAGGGC	0.373													G	71483393	A	G	71483393	3	3	11	1	0	0	0	0	1	0	0	0	17780	159	6	3	1400	3	ZNF23	16	71483393	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	980216	71483393	18871360	927	9766											
ZNF23	7571	broad.mit.edu	37	chr16	71483562	71483562	+	Frame_Shift_Del	DEL	A	A	-													tatgagtttgaactttgactAaaaaaacactcctccacggg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:71483561_71483561TA>T	uc002faf.3	-	5	1181	c.367_367TA>A	c.(367-369)agtfs	p.S123fs	ZNF23_uc002fah.3_Frame_Shift_Del_p.S123fs|ZNF23_uc002fad.3_Frame_Shift_Del_p.S65fs|ZNF23_uc010vmf.2_Frame_Shift_Del_p.S65fs|ZNF23_uc002fag.3_Frame_Shift_Del_p.S65fs|ZNF23_uc002fai.3_Frame_Shift_Del_p.S162fs	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GAACTTTGACTAAAAAAACAC	0.443													-	71483562	A	-	71483562	7	5	11	1	0	1	0	1	0	0	0	0	17780	359	13	0	1569	0	ZNF23	16	71483562	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	169	71483562	18871191	928	9767											
PHLPP2	23035	broad.mit.edu	37	chr16	71712666	71712666	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaataaccttaccttaaatcCacatgcttgatatggttcat	5	9	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:71712666C>A	uc002fax.2	-	7	1266	c.1260G>T	c.(1258-1260)GTG>GTT	p.V420V	PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Silent_p.V420V|PHLPP2_uc002fay.1_Silent_p.V420V	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	420	LRR 8.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						ACCTTAAATCCACATGCTTGA	0.378													A	71712666	C	A	71712666	2	1	11	1	0	0	0	0	0	0	0	1	11855	581	21	5		5	PHLPP2	16	71712666	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	229104	71712666	18642087	929	9768											
CHST5	23563	broad.mit.edu	37	chr16	75563303	75563303	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccccgacccgtgggtgatgTtgtggatccaggcctcgagc	14	13	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:75563303T>G	uc002fei.2	-	3	2375	c.980A>C	c.(979-981)AAC>ACC	p.N327T	CHST5_uc002fej.1_Missense_Mutation_p.N333T	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	327	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GTGGGTGATGTTGTGGATCCA	0.667													G	75563303	T	G	75563303	3	3	11	1	0	0	0	0	1	0	0	0	3407	1725	60	5	259	5	CHST5	16	75563303	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	3850637	75563303	14791450	930	9769											
BCMO1	53630	broad.mit.edu	37	chr16	81303868	81303868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaacgcctacgaagaggaCggctgcatcgtgtttgacgt	13	10	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:81303868C>T	uc002fgn.1	+	7	1166	c.948C>T	c.(946-948)GAC>GAT	p.D316D	BCMO1_uc010vnp.1_Silent_p.D247D	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase	316					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity				0						ACGAAGAGGACGGCTGCATCG	0.537													T	81303868	C	T	81303868	2	4	11	1	0	0	0	0	0	0	0	1	1384	535	19	1		1	BCMO1	16	81303868	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	5740565	81303868	9050885	931	9770											
KIAA1609	57707	broad.mit.edu	37	chr16	84520637	84520637	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtcacagtcatagtccagCcactggggccccagaagtct	11	14	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:84520637C>T	uc002fib.2	-	5	665	c.558G>A	c.(556-558)TGG>TGA	p.W186*	KIAA1609_uc010vod.1_Nonsense_Mutation_p.W159*|KIAA1609_uc002fic.2_RNA	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	hypothetical protein LOC57707	186							protein binding			ovary(2)	2						CATAGTCCAGCCACTGGGGCC	0.517													T	84520637	C	T	84520637	4	4	11	1	0	0	0	0	0	1	0	0	8247	740	26	2	828	2	KIAA1609	16	84520637	Nonsense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3216769	84520637	5834116	932	9771											
ZCCHC14	23174	broad.mit.edu	37	chr16	87446254	87446254	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccatcatggcgctgccaaaGctcttgtccactttcatgct	7	14	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:87446254G>T	uc002fjz.1	-	12	1689	c.1662C>A	c.(1660-1662)AGC>AGA	p.S554R	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.S330R	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	554					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CGCTGCCAAAGCTCTTGTCCA	0.557													T	87446254	G	T	87446254	3	4	11	1	0	0	0	0	1	0	0	0	17580	962	34	5	1195	5	ZCCHC14	16	87446254	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2925617	87446254	2908499	933	9772											
C16orf7	9605	broad.mit.edu	37	chr16	89774889	89774889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgacaccagctgagggaggCcgctcctcagcaccacgaag	12	16	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:89774889C>T	uc002fom.1	-	14	1873	c.1748G>A	c.(1747-1749)GGC>GAC	p.G583D	C16orf7_uc002fol.1_Missense_Mutation_p.G513D	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	583	VPS9.				ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CTGAGGGAGGCCGCTCCTCAG	0.672													T	89774889	C	T	89774889	3	4	11	1	0	0	0	0	1	0	0	0	1828	739	26	2	155	2	C16orf7	16	89774889	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2328635	89774889	579864	934	9773											
TUBB3	10381	broad.mit.edu	37	chr16	89986504	89986504	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggctgcatcttcaagaacTtcaacctctttctcgccctc	6	16	5	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:89986504T>C	uc002fpf.2	+	1	1246	c.838T>C	c.(838-840)TTC>CTC	p.F280L	MC1R_uc002fpe.3_Missense_Mutation_p.F280L|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	Error:Variant_position_missing_in_Q13509_after_alignment					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CTTCAAGAACTTCAACCTCTT	0.587													C	89986504	T	C	89986504	3	2	11	1	0	0	0	0	1	0	0	0	16754	1609	56	3		3	TUBB3	16	89986504	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	211615	89986504	368249	935	9774											
NXN	64359	broad.mit.edu	37	chr17	725693	725693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgaggcttcggcagggcGgacactgaaagacaggacag	18	8	0	3	rs139124108		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:725693G>A	uc002fsa.2	-	4	709	c.617C>T	c.(616-618)CCG>CTG	p.P206L	NXN_uc002fsb.1_Missense_Mutation_p.P93L|NXN_uc010vqd.1_5'UTR|NXN_uc002frz.2_5'UTR|NXN_uc010vqe.1_Missense_Mutation_p.P98L	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	206	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TCGGCAGGGCGGACACTGAAA	0.592													A	725693	G	A	725693	3	1	11	1	0	0	0	0	1	0	0	0	10787	1116	39	1	710	1	NXN	17	725693	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08		725693	80469517	936	9775											
PRPF8	10594	broad.mit.edu	37	chr17	1581900	1581900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttgtatcgatacatgcccGtcaactgcccaacatgggca	8	12	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:1581900G>A	uc002fte.2	-	13	1880	c.1766C>T	c.(1765-1767)ACG>ATG	p.T589M		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	589						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATACATGCCCGTCAACTGCCC	0.478													A	1581900	G	A	1581900	3	1	11	1	0	0	0	0	1	0	0	0	12575	1145	40	1	5365	1	PRPF8	17	1581900	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	856207	1581900	79613310	937	9776											
SMG6	23293	broad.mit.edu	37	chr17	2203279	2203279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctgagctggtgctgcgCgtgcggtagcgattccttcg	15	12	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:2203279C>T	uc002fub.1	-	2	823	c.768G>A	c.(766-768)ACG>ACA	p.T256T	SMG6_uc002fud.1_Silent_p.T225T	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	256	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4						TGGTGCTGCGCGTGCGGTAGC	0.662													T	2203279	C	T	2203279	2	4	11	1	0	0	0	0	0	0	0	1	14797	755	27	1		1	SMG6	17	2203279	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	621379	2203279	78991931	938	9777											
TSR1	55720	broad.mit.edu	37	chr17	2239337	2239339	+	In_Frame_Del	DEL	CTT	CTT	-													cccgctcctctcaccgcctcCttcttctgctttcggagctg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:2239336_2239338CCTT>C	uc002fuj.3	-	1	1151_1153	c.194_196AAGG>G	c.(193-198)aaggag>aGag	p.65_66KE>R	SGSM2_uc002fum.4_5'Flank|SGSM2_uc002fun.4_5'Flank|SGSM2_uc010vqw.2_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	Homo sapiens TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR1), mRNA.	65					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CTCACCGCCTCCTTCTTCTGCTT	0.567													-	2239339	CTT	-	2239337	7	5	11	1	0	1	0	1	0	0	0	0	16661	680	24	0	2275	0	TSR1	17	2239337	In_Frame_Del	DEL	CTT	TCGA-BR-4256-01A-01D-1126-08	36058	2239337	78955873	939	9778											
AIPL1	23746	broad.mit.edu	37	chr17	6328975	6328975	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatgttccggcagcgcagCcgctcctcctcctgcttctc	9	18	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:6328975C>T	uc002gcp.2	-	6	1055	c.960G>A	c.(958-960)CGG>CGA	p.R320R	AIPL1_uc002gcq.2_Silent_p.R260R|AIPL1_uc002gcr.2_Silent_p.R257R|AIPL1_uc010clk.2_Silent_p.R298R|AIPL1_uc010cll.2_Silent_p.R296R|AIPL1_uc002gcs.2_3'UTR	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting	320					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding				0				COAD - Colon adenocarcinoma(228;0.141)		GGCAGCGCAGCCGCTCCTCCT	0.458													T	6328975	C	T	6328975	2	4	11	1	0	0	0	0	0	0	0	1	436	726	26	2		2	AIPL1	17	6328975	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	4089638	6328975	74866235	940	9779											
ASGR1	432	broad.mit.edu	37	chr17	7077743	7077743	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggctccgcaggtcagacAcgaactgcttcacgtggagc	12	13	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:7077743A>G	uc002ges.3	-	6	802	c.392T>C	c.(391-393)GTG>GCG	p.V131A	ASGR1_uc010clx.1_Missense_Mutation_p.V30A	NM_001671	NP_001662	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	131	Extracellular (Probable).				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)	2						CAGGTCAGACACGAACTGCTT	0.667													G	7077743	A	G	7077743	3	3	11	1	0	0	0	0	1	0	0	0	1039	159	6	3	499	3	ASGR1	17	7077743	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	748768	7077743	74117467	941	9780											
NEURL4	84461	broad.mit.edu	37	chr17	7230998	7230998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagctccccagcaactgtgCgctccacgcccacgcggtcc	10	19	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:7230998C>T	uc002gga.1	-	2	495	c.488G>A	c.(487-489)CGC>CAC	p.R163H	NEURL4_uc002ggb.1_Missense_Mutation_p.R163H|NEURL4_uc002ggc.1_5'Flank	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	163	NHR 1.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						AGCAACTGTGCGCTCCACGCC	0.642													T	7230998	C	T	7230998	3	4	11	1	0	0	0	0	1	0	0	0	10347	768	27	1	4312	1	NEURL4	17	7230998	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	153255	7230998	73964212	942	9781											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:7577121G>A	uc002gim.2	-	8	1011	c.817C>T	c.(817-819)CGT>TGT	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7577121	G	A	7577121	3	1	11	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	346123	7577121	73618089	943	9782											
NTN1	9423	broad.mit.edu	37	chr17	9066235	9066235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaactgtcgccacaacaCcgccggccgccactgccatt	7	20	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:9066235C>T	uc002glw.3	+	3	1231	c.1124C>T	c.(1123-1125)ACC>ATC	p.T375I		NM_004822	NP_004813	O95631	NET1_HUMAN	netrin 1 precursor	375	Laminin EGF-like 2.				apoptosis|axon guidance		protein binding				0						CGCCACAACACCGCCGGCCGC	0.632													T	9066235	C	T	9066235	3	4	11	1	0	0	0	0	1	0	0	0	10700	507	18	4	1130	4	NTN1	17	9066235	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1489114	9066235	72128975	944	9783											
NCOR1	9611	broad.mit.edu	37	chr17	16049688	16049688	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattaaacatcaaactactcAccgctgaaatctttcttgct	3	12	4	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:16049688A>G	uc002gpo.2	-	10	1322	c.1082_splice	c.e10+1	p.R361_splice	NCOR1_uc002gpn.2_Splice_Site_p.R361_splice|NCOR1_uc002gpp.1_Splice_Site_p.R252_splice|NCOR1_uc002gpr.2_Splice_Site_p.R252_splice|NCOR1_uc002gps.1_Splice_Site_p.R370_splice|NCOR1_uc010coz.1_Splice_Site_p.R177_splice|NCOR1_uc010cpb.1_Splice_Site_p.R370_splice|NCOR1_uc010cpa.1_Splice_Site_p.R361_splice	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1						cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAAACTACTCACCGCTGAAAT	0.259													G	16049688	A	G	16049688	5	3	11	1	0	0	0	0	0	0	1	0	10235	173	6	3	6386	3	NCOR1	17	16049688	Splice_Site	SNP	A	TCGA-BR-4256-01A-01D-1126-08	6983453	16049688	65145522	945	9784											
RAI1	10743	broad.mit.edu	37	chr17	17697546	17697546	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccctgagaacctgctgtcGgatctcagcctgcagagcct	10	15	1	2	rs113249215		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:17697546G>A	uc002grm.2	+	3	1753	c.1284G>A	c.(1282-1284)TCG>TCA	p.S428S	RAI1_uc002grn.1_Silent_p.S428S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	428						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		ACCTGCTGTCGGATCTCAGCC	0.612													A	17697546	G	A	17697546	2	1	11	1	0	0	0	0	0	0	0	1	13007	1103	39	1		1	RAI1	17	17697546	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1647858	17697546	63497664	946	9785											
SREBF1	6720	broad.mit.edu	37	chr17	17721064	17721064	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcactgccactgccaccGctgccactgcccctgctgcc	9	20	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:17721064G>A	uc002gru.1	-	7	1544	c.1350C>T	c.(1348-1350)AGC>AGT	p.S450S	SREBF1_uc002grp.1_Missense_Mutation_p.A20V|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_Silent_p.S196S|SREBF1_uc002grs.1_Silent_p.S426S|SREBF1_uc002grt.1_Silent_p.S480S|SREBF1_uc010cpp.1_Silent_p.S426S|SREBF1_uc010cpq.1_Silent_p.S450S	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	450	Gly/Pro/Ser-rich.|Cytoplasmic (Potential).|Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						CACTGCCACCGCTGCCACTGC	0.647													A	17721064	G	A	17721064	2	1	11	1	0	0	0	0	0	0	0	1	15140	1078	38	1		1	SREBF1	17	17721064	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	23518	17721064	63474146	947	9786											
TOM1L2	146691	broad.mit.edu	37	chr17	17754256	17754256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtccatgacagatggctgcGcaacggggatctatggaggc	15	10	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:17754256G>A	uc002grz.3	-	13	1446	c.1289C>T	c.(1288-1290)GCG>GTG	p.A430V	TOM1L2_uc002gry.3_Missense_Mutation_p.A380V|TOM1L2_uc010vwy.1_Missense_Mutation_p.A406V|TOM1L2_uc010cpr.2_Missense_Mutation_p.A385V|TOM1L2_uc010vwz.1_Missense_Mutation_p.A311V|TOM1L2_uc010vxa.1_Intron|TOM1L2_uc002grv.3_Missense_Mutation_p.A163V	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 isoform 3	430					intracellular protein transport	intracellular					0	all_neural(463;0.228)					AGATGGCTGCGCAACGGGGAT	0.587													A	17754256	G	A	17754256	3	1	11	1	0	0	0	0	1	0	0	0	16350	1087	38	1	246	1	TOM1L2	17	17754256	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	33192	17754256	63440954	948	9787											
CYTSB	92521	broad.mit.edu	37	chr17	20108736	20108736	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaatgaagagcccaccacTcaggaaggaaaaattattga	9	7	1	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:20108736T>C	uc002gwq.2	+	4	1519	c.1374T>C	c.(1372-1374)ACT>ACC	p.T458T	CYTSB_uc010cqx.2_Silent_p.T458T|CYTSB_uc002gwr.2_Silent_p.T458T|CYTSB_uc002gws.2_Silent_p.T458T|CYTSB_uc002gwv.2_Silent_p.T377T|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Silent_p.T234T|CYTSB_uc002gwt.2_Silent_p.T377T|CYTSB_uc002gwu.2_Silent_p.T377T	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	458						nucleus					0						AGCCCACCACTCAGGAAGGAA	0.443													C	20108736	T	C	20108736	2	2	11	1	0	0	0	0	0	0	0	1	4210	1538	54	3		3	CYTSB	17	20108736	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	2354480	20108736	61086474	949	9788											
KCNJ12	3768	broad.mit.edu	37	chr17	21318878	21318878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgacatgttcaccacctGtgtggacatccgctggcggt	13	12	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:21318878G>A	uc002gyv.1	+	3	929	c.224G>A	c.(223-225)TGT>TAT	p.C75Y		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	75	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	TTCACCACCTGTGTGGACATC	0.572										Prostate(3;0.18)			A	21318878	G	A	21318878	3	1	11	1	0	0	0	0	1	0	0	0	8046	1377	48	4	226	4	KCNJ12	17	21318878	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1210142	21318878	59876332	950	9789											
SLC13A2	9058	broad.mit.edu	37	chr17	26821104	26821104	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcataccctccaagttcccAgggctgacccaggacccagg	9	16	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:26821104A>G	uc002hbh.2	+	8	1234	c.1167A>G	c.(1165-1167)CCA>CCG	p.P389P	SLC13A2_uc010wal.1_3'UTR|SLC13A2_uc010wam.1_Silent_p.P345P|SLC13A2_uc010wan.1_Silent_p.P438P|SLC13A2_uc010wao.1_Silent_p.P346P|SLC13A2_uc002hbi.2_Silent_p.P318P	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	389	Helical; (Potential).					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCAAGTTCCCAGGGCTGACCC	0.557													G	26821104	A	G	26821104	2	3	11	1	0	0	0	0	0	0	0	1	14392	175	7	3		3	SLC13A2	17	26821104	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	5502226	26821104	54374106	951	9790											
MYO18A	399687	broad.mit.edu	37	chr17	27421841	27421841	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagagacacaaccttctgggTgaaccctgcaatgtccatgt	9	11	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:27421841T>C	uc002hdt.1	-	30	4695	c.4537A>G	c.(4537-4539)ACC>GCC	p.T1513A	MYO18A_uc010wbc.1_Missense_Mutation_p.T1055A|MYO18A_uc002hds.2_Missense_Mutation_p.T1055A|MYO18A_uc010csa.1_Missense_Mutation_p.T1513A|MYO18A_uc002hdu.1_Missense_Mutation_p.T1513A	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	1513	Potential.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ACCTTCTGGGTGAACCCTGCA	0.552													C	27421841	T	C	27421841	3	2	11	1	0	0	0	0	1	0	0	0	10065	1696	59	3	1679	3	MYO18A	17	27421841	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	600737	27421841	53773369	952	9791											
NF1	4763	broad.mit.edu	37	chr17	29677318	29677318	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatacatatcccattcatcAtggtgacccttcctataggt	7	11	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:29677318A>G	uc002hgg.2	+	50	7772	c.7439A>G	c.(7438-7440)CAT>CGT	p.H2480R	NF1_uc002hgh.2_Missense_Mutation_p.H2459R|NF1_uc010cso.2_Missense_Mutation_p.H668R|NF1_uc010wbt.1_Missense_Mutation_p.M11V|NF1_uc010wbu.1_RNA	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2480					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCCATTCATCATGGTGACCCT	0.363			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			G	29677318	A	G	29677318	3	3	11	1	0	0	0	0	1	0	0	0	10356	217	8	3	7698	3	NF1	17	29677318	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	2255477	29677318	51517892	953	9792											
CDK5R1	8851	broad.mit.edu	37	chr17	30815316	30815316	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgagctccaggccgtcctGctgacatgcctgtacctctc	9	17	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:30815316G>A	uc002hhn.2	+	2	899	c.678G>A	c.(676-678)CTG>CTA	p.L226L	CDK5R1_uc010wca.1_Silent_p.L226L|CDK5R1_uc010ctc.2_5'UTR	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1	226					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			AGGCCGTCCTGCTGACATGCC	0.597													A	30815316	G	A	30815316	2	1	11	1	0	0	0	0	0	0	0	1	3143	1306	46	2		2	CDK5R1	17	30815316	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1137998	30815316	50379894	954	9793											
SPACA3	124912	broad.mit.edu	37	chr17	31324543	31324543	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggtctgggttactggTaagtaacttgggctggagcc	15	8	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:31324543T>C	uc002hhs.1	+	4	656	c.581_splice	c.e4+2	p.W194_splice	SPACA3_uc010cte.1_Splice_Site	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3						cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.193)			GGGTTACTGGTAAGTAACTTG	0.512													C	31324543	T	C	31324543	5	2	11	1	0	0	0	0	0	0	1	0	14973	1652	57	3	597	3	SPACA3	17	31324543	Splice_Site	SNP	T	TCGA-BR-4256-01A-01D-1126-08	509227	31324543	49870667	955	9794											
LIG3	3980	broad.mit.edu	37	chr17	33313055	33313055	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagaaagctgttgtccAggctaagttgacaaccactg	10	8	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:33313055A>G	uc002hik.1	+	3	704	c.596A>G	c.(595-597)CAG>CGG	p.Q199R	LIG3_uc002hii.2_Missense_Mutation_p.Q199R|LIG3_uc002hij.2_Missense_Mutation_p.Q199R|LIG3_uc010cth.1_Missense_Mutation_p.Q208R	NM_013975	NP_039269	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent isoform alpha	199					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9		Ovarian(249;0.17)			Bleomycin(DB00290)	GCTGTTGTCCAGGCTAAGTTG	0.453								Other_BER_factors					G	33313055	A	G	33313055	3	3	11	1	0	0	0	0	1	0	0	0	8782	188	7	3	602	3	LIG3	17	33313055	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	1988512	33313055	47882155	956	9795											
MMP28	79148	broad.mit.edu	37	chr17	34095306	34095306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggccctgcgtttcagggcGccttccttgggggctgtagg	17	11	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:34095306G>A	uc002hjy.1	-	8	1202	c.943C>T	c.(943-945)CGC>TGC	p.R315C	MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	matrix metalloproteinase 28 isoform 1	315					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GTTTCAGGGCGCCTTCCTTGG	0.562													A	34095306	G	A	34095306	3	1	11	1	0	0	0	0	1	0	0	0	9665	1087	38	1	631	1	MMP28	17	34095306	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	782251	34095306	47099904	957	9796											
FBXL20	84961	broad.mit.edu	37	chr17	37455302	37455302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaactttcgtaaaaagccCccacatcgttttgaaatatt	4	10	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:37455302C>T	uc010wed.1	-	5	491	c.270G>A	c.(268-270)GGG>GGA	p.G90G	FBXL20_uc002hrt.2_Silent_p.G90G|FBXL20_uc010cvu.2_Silent_p.G90G	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	90	LRR 1.					cytoplasm				ovary(1)	1			LUAD - Lung adenocarcinoma(14;0.146)			GTAAAAAGCCCCCACATCGTT	0.373													T	37455302	C	T	37455302	2	4	11	1	0	0	0	0	0	0	0	1	5717	610	22	4		4	FBXL20	17	37455302	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3359996	37455302	43739908	958	9797											
MED24	9862	broad.mit.edu	37	chr17	38191589	38191589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtccgatgcattcctctgCtttgccgtgacagctacagg	10	13	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:38191589C>T	uc002htt.2	-	6	653	c.340G>A	c.(340-342)GCA>ACA	p.A114T	MED24_uc010wes.1_5'UTR|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.A139T|MED24_uc002htu.2_Missense_Mutation_p.A101T|MED24_uc010cwn.2_Missense_Mutation_p.A101T|MED24_uc010weu.1_Missense_Mutation_p.A24T|MED24_uc010wev.1_Missense_Mutation_p.A64T|MED24_uc010wew.1_Missense_Mutation_p.A43T|MED24_uc010wex.1_Intron|MED24_uc010wez.1_5'Flank|MED24_uc010wfa.1_Missense_Mutation_p.A64T|MED24_uc010wfb.1_Missense_Mutation_p.A126T|MED24_uc010wfc.1_Missense_Mutation_p.A51T	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	114					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)					CATTCCTCTGCTTTGCCGTGA	0.597											OREG0024387	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	38191589	C	T	38191589	3	4	11	1	0	0	0	0	1	0	0	0	9442	797	28	2	2713	2	MED24	17	38191589	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	736287	38191589	43003621	959	9798											
TOP2A	7153	broad.mit.edu	37	chr17	38562635	38562635	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaatacaactcaaacctaCcaggctgatagcagcatcat	5	11	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:38562635C>T	uc002huq.2	-	16	2079	c.1953_splice	c.e16+1	p.L651_splice		NM_001067	NP_001058	P11388	TOP2A_HUMAN	DNA topoisomerase II, alpha isozyme						apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CTCAAACCTACCAGGCTGATA	0.328													T	38562635	C	T	38562635	5	4	11	1	0	0	0	0	0	0	1	0	16362	521	18	4	2721	4	TOP2A	17	38562635	Splice_Site	SNP	C	TCGA-BR-4256-01A-01D-1126-08	371046	38562635	42632575	960	9799											
GAST	2520	broad.mit.edu	37	chr17	39871806	39871806	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttaggtacaggggccaacAgggacctggagctaccctgg	14	12	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:39871806A>G	uc002hxl.2	+	2	150	c.118A>G	c.(118-120)AGG>GGG	p.R40G	JUP_uc010wfs.1_Intron	NM_000805	NP_000796	P01350	GAST_HUMAN	gastrin preproprotein	40		Cleavage.				extracellular region	hormone activity				0		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			AGGGGCCAACAGGGACCTGGA	0.632													G	39871806	A	G	39871806	3	3	11	1	0	0	0	0	1	0	0	0	6252	179	7	3	120	3	GAST	17	39871806	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	1309171	39871806	41323404	961	9800											
JUP	3728	broad.mit.edu	37	chr17	39925443	39925443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggttcacaatcatggccGccttggtcaccaccacctgg	10	15	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:39925443G>A	uc002hxq.2	-	4	762	c.485C>T	c.(484-486)GCG>GTG	p.A162V	JUP_uc010wfs.1_Missense_Mutation_p.A162V|JUP_uc002hxr.2_Missense_Mutation_p.A162V|JUP_uc002hxs.2_Missense_Mutation_p.A162V	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	162	ARM 1.				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		AATCATGGCCGCCTTGGTCAC	0.657													A	39925443	G	A	39925443	3	1	11	1	0	0	0	0	1	0	0	0	7972	1087	38	1	1796	1	JUP	17	39925443	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	53637	39925443	41269767	962	9801											
FKBP10	60681	broad.mit.edu	37	chr17	39975515	39975515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacgtcctcctgattgacGtgcacaacccgaaggacgct	9	14	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:39975515G>A	uc002hxv.2	+	5	1106	c.781G>A	c.(781-783)GTG>ATG	p.V261M	FKBP10_uc002hxw.1_Translation_Start_Site	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10 precursor	261	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CCTGATTGACGTGCACAACCC	0.617													A	39975515	G	A	39975515	3	1	11	1	0	0	0	0	1	0	0	0	5902	1145	40	1	799	1	FKBP10	17	39975515	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	50072	39975515	41219695	963	9802											
CNTNAP1	8506	broad.mit.edu	37	chr17	40849679	40849679	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccctcaagacccacttcCgaacccctcgacccatgact	4	21	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:40849679C>T	uc002iay.2	+	22	3892	c.3676C>T	c.(3676-3678)CGA>TGA	p.R1226*	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	1226	Laminin G-like 4.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GACCCACTTCCGAACCCCTCG	0.552													T	40849679	C	T	40849679	4	4	11	1	0	0	0	0	0	1	0	0	3646	644	23	1	3762	1	CNTNAP1	17	40849679	Nonsense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	874164	40849679	40345531	964	9803											
DHX8	1659	broad.mit.edu	37	chr17	41570257	41570257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccaaagaccggaaggacCgggacaaatatggagagcgg	14	11	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:41570257C>T	uc002idu.1	+	6	785	c.712C>T	c.(712-714)CGG>TGG	p.R238W	DHX8_uc010wif.1_Missense_Mutation_p.R147W|DHX8_uc010wig.1_Missense_Mutation_p.R238W	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	238						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CCGGAAGGACCGGGACAAATA	0.542													T	41570257	C	T	41570257	3	4	11	1	0	0	0	0	1	0	0	0	4515	643	23	1	734	1	DHX8	17	41570257	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	720578	41570257	39624953	965	9804											
PYY	5697	broad.mit.edu	37	chr17	42030346	42030346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accacaggtctgggccctccGacctgcggaagcgaagggga	15	13	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:42030346G>A	uc002ieq.2	-	7	813	c.272C>T	c.(271-273)TCG>TTG	p.S91L	PYY_uc002ier.1_3'UTR	NM_004160	NP_004151	P10082	PYY_HUMAN	peptide YY precursor	91					cell proliferation|cell-cell signaling|cellular component movement|cytoskeleton organization|digestion|G-protein coupled receptor protein signaling pathway	soluble fraction					0		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TGGGCCCTCCGACCTGCGGAA	0.642													A	42030346	G	A	42030346	3	1	11	1	0	0	0	0	1	0	0	0	12868	1059	37	1	25	1	PYY	17	42030346	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	460089	42030346	39164864	966	9805											
FMNL1	752	broad.mit.edu	37	chr17	43322710	43322710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcggcaggatgactgcaTggtgctcaaggagttcctga	15	8	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:43322710T>C	uc002iin.2	+	22	3019	c.2819T>C	c.(2818-2820)ATG>ACG	p.M940T	FMNL1_uc002iiq.2_Missense_Mutation_p.M518T|FMNL1_uc010dag.2_RNA|LOC100133991_uc010dah.2_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	940	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						GATGACTGCATGGTGCTCAAG	0.637													C	43322710	T	C	43322710	3	2	11	1	0	0	0	0	1	0	0	0	5951	1464	51	3	2905	3	FMNL1	17	43322710	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	1292364	43322710	37872500	967	9806											
KPNB1	3837	broad.mit.edu	37	chr17	45734321	45734321	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatcccagtaaaccagtgGccagaactcattcctcagct	8	13	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:45734321G>A	uc002ilt.1	+	4	714	c.378G>A	c.(376-378)TGG>TGA	p.W126*	KPNB1_uc010wkw.1_5'UTR|KPNB1_uc010wkx.1_5'UTR	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	126	HEAT 1.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TAAACCAGTGGCCAGAACTCA	0.502													A	45734321	G	A	45734321	4	1	11	1	0	0	0	0	0	1	0	0	8435	1212	42	2	392	2	KPNB1	17	45734321	Nonsense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2411611	45734321	35460889	968	9807											
KPNB1	3837	broad.mit.edu	37	chr17	45741591	45741591	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagggatagaattctggtccAatgtctgtgatgaggaaatg	13	4	2	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:45741591A>G	uc002ilt.1	+	8	1189	c.853A>G	c.(853-855)AAT>GAT	p.N285D	KPNB1_uc010wkw.1_Missense_Mutation_p.N140D|KPNB1_uc010wkx.1_Intron	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	285					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						ATTCTGGTCCAATGTCTGTGA	0.428													G	45741591	A	G	45741591	3	3	11	1	0	0	0	0	1	0	0	0	8435	130	5	3	883	3	KPNB1	17	45741591	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	7270	45741591	35453619	969	9808											
DLX3	1747	broad.mit.edu	37	chr17	48070879	48070879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtagctggagtagatcGtacgcggctttcggaccttc	14	10	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:48070879G>A	uc002ipy.2	-	2	627	c.401C>T	c.(400-402)ACG>ATG	p.T134M		NM_005220	NP_005211	O60479	DLX3_HUMAN	distal-less homeobox 3	134	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGAGTAGATCGTACGCGGCTT	0.687													A	48070879	G	A	48070879	3	1	11	1	0	0	0	0	1	0	0	0	4572	1145	40	1	470	1	DLX3	17	48070879	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2329288	48070879	33124331	970	9809											
ITGA3	3675	broad.mit.edu	37	chr17	48151644	48151644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccacattgtgctgctgcGgtgagccaggaggccagtga	15	10	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:48151644G>A	uc010dbl.2	+	9	1846	c.1382G>A	c.(1381-1383)CGG>CAG	p.R461Q	ITGA3_uc010dbm.2_Missense_Mutation_p.R461Q	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	461	FG-GAP 7.|Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						GTGCTGCTGCGGTGAGCCAGG	0.527													A	48151644	G	A	48151644	3	1	11	1	0	0	0	0	1	0	0	0	7877	1130	39	1	1416	1	ITGA3	17	48151644	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	80765	48151644	33043566	971	9810											
MMD	23531	broad.mit.edu	37	chr17	53488653	53488653	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccatgatacaatgtgaaaTactgtagaaacgatgaagag	9	5	0	5			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:53488653T>C	uc002iui.2	-	3	519	c.234A>G	c.(232-234)GTA>GTG	p.V78V		NM_012329	NP_036461	Q15546	PAQRB_HUMAN	monocyte to macrophage	78	Helical; (Potential).				cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity				0						CAATGTGAAATACTGTAGAAA	0.448													C	53488653	T	C	53488653	2	2	11	1	0	0	0	0	0	0	0	1	9643	1393	49	3		3	MMD	17	53488653	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	5337009	53488653	27706557	972	9811											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	11	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-BR-4256-01A-01D-1126-08	2946508	56435161	24760049	973	9812											
TRIM37	4591	broad.mit.edu	37	chr17	57093004	57093004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcctccttttctcaaccGcaggcaagccactgaaaact	5	14	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:57093004G>A	uc002iwy.3	-	21	2987	c.2543C>T	c.(2542-2544)GCG>GTG	p.A848V	TRIM37_uc002iwz.3_Missense_Mutation_p.A848V|TRIM37_uc002ixa.3_Missense_Mutation_p.A726V|TRIM37_uc010woc.1_Missense_Mutation_p.A814V	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	848						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTCTCAACCGCAGGCAAGCC	0.398									Mulibrey_Nanism				A	57093004	G	A	57093004	3	1	11	1	0	0	0	0	1	0	0	0	16508	1087	38	1	375	1	TRIM37	17	57093004	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	657843	57093004	24102206	974	9813											
TBX2	6909	broad.mit.edu	37	chr17	59479301	59479301	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaacaacatctctgacAagcacggcttcgtgagtgtt	9	11	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:59479301A>G	uc010wox.1	+	2	933	c.652A>G	c.(652-654)AAG>GAG	p.K218E	TBX2_uc002ize.2_Missense_Mutation_p.K208E|TBX2_uc002izg.2_Missense_Mutation_p.K64E	NM_005994	NP_005985	Q13207	TBX2_HUMAN	T-box 2	218	T-box.				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding				0						CATCTCTGACAAGCACGGCTT	0.612													G	59479301	A	G	59479301	3	3	11	1	0	0	0	0	1	0	0	0	15652	131	5	3	658	3	TBX2	17	59479301	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	2386297	59479301	21715909	975	9814											
INTS2	57508	broad.mit.edu	37	chr17	59989018	59989018	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttagtatgatccaatgtcaAagccacaccaaggcctggca	8	11	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:59989018A>G	uc002izn.2	-	7	917	c.841T>C	c.(841-843)TTG>CTG	p.L281L	INTS2_uc002izm.2_Silent_p.L273L	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	281					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3						TCCAATGTCAAAGCCACACCA	0.418													G	59989018	A	G	59989018	2	3	11	1	0	0	0	0	0	0	0	1	7778	11	1	3		3	INTS2	17	59989018	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	509717	59989018	21206192	976	9815											
CSH1	1442	broad.mit.edu	37	chr17	61972426	61972426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcggcactgcaccatgcGcaggaatgtctcgaccttgt	12	12	1	1	rs139446025	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:61972426G>A	uc002jcs.1	-	5	726	c.610C>T	c.(610-612)CGC>TGC	p.R204C	CSH2_uc002jck.2_Intron|CSH1_uc002jcp.1_3'UTR|CSH1_uc002jcq.1_Missense_Mutation_p.R165C|CSH1_uc002jcr.1_3'UTR|CSH1_uc002jct.1_Missense_Mutation_p.R170C|CSH1_uc002jcu.1_3'UTR|CSH1_uc002jcv.1_Missense_Mutation_p.R109C|CSH1_uc002jcw.2_3'UTR	NM_001317	NP_001308	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 isoform 1	204					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			skin(1)	1						TGCACCATGCGCAGGAATGTC	0.582									Russell-Silver_syndrome				A	61972426	G	A	61972426	3	1	11	1	0	0	0	0	1	0	0	0	3940	1087	38	1	47	1	CSH1	17	61972426	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1983408	61972426	19222784	977	9816											
TMEM104	54868	broad.mit.edu	37	chr17	72832361	72832362	+	Frame_Shift_Ins	INS	-	-	CG													acatgtacaccctcaacttcINSgcgcgctgtgacgtcgtggg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:72832360_72832361T>TCG	uc002jls.4	+	9	1187_1188	c.1025_1026T>TCG	c.(1024-1026)ttcfs	p.F342fs	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.3_Frame_Shift_Ins_p.F342fs	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	Homo sapiens transmembrane protein 104 (TMEM104), mRNA.	342						integral to membrane		p.F342F(2)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					ACCCTCAACTTCGCGCGCTGTG	0.614													CG	72832362	-	CG	72832361	7	5	11	1	0	1	1	0	0	0	0	0	16015	883	31	0	1060	0	TMEM104	17	72832361	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	10859935	72832361	8362849	978	9817											
UNC13D	201294	broad.mit.edu	37	chr17	73836367	73836367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctgggtaggtctcagtgCggggttccagggggtaccac	18	9	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:73836367C>T	uc002jpp.2	-	10	1177	c.797G>A	c.(796-798)CGC>CAC	p.R266H	UNC13D_uc010wsk.1_Missense_Mutation_p.R266H|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_Missense_Mutation_p.R63H	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	266	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			upper_aerodigestive_tract(1)|skin(1)	2			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGTCTCAGTGCGGGGTTCCAG	0.647									Familial_Hemophagocytic_Lymphohistiocytosis				T	73836367	C	T	73836367	3	4	11	1	0	0	0	0	1	0	0	0	16984	768	27	1	2567	1	UNC13D	17	73836367	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1004006	73836367	7358843	979	9818											
USP36	57602	broad.mit.edu	37	chr17	76795011	76795011	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccctcggtcaaactcttcGtcccagtcatcaaccacggt	6	16	4	0	rs148007252		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:76795011G>A	uc002jvz.1	-	19	3544	c.3219C>T	c.(3217-3219)GAC>GAT	p.D1073D	USP36_uc002jwa.1_Silent_p.D1073D|USP36_uc002jvy.1_Silent_p.D133D	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	1071					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAAACTCTTCGTCCCAGTCAT	0.587													A	76795011	G	A	76795011	2	1	11	1	0	0	0	0	0	0	0	1	17064	1136	40	1		1	USP36	17	76795011	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2958644	76795011	4400199	980	9819											
CCDC40	55036	broad.mit.edu	37	chr17	78013825	78013825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatacagaaacttcatcccCggaagggcaaatcagtgctg	9	11	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:78013825C>T	uc010dht.2	+	3	335	c.308C>T	c.(307-309)CCG>CTG	p.P103L	CCDC40_uc010wub.1_Missense_Mutation_p.P103L	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	103					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ACTTCATCCCCGGAAGGGCAA	0.398													T	78013825	C	T	78013825	3	4	11	1	0	0	0	0	1	0	0	0	2812	652	23	1	318	1	CCDC40	17	78013825	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1218814	78013825	3181385	981	9820											
NPTX1	4884	broad.mit.edu	37	chr17	78447193	78447193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcatacatatagttggtcCgcagtgggaatgtgagctgg	15	6	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:78447193C>T	uc002jyp.1	-	3	862	c.704G>A	c.(703-705)CGG>CAG	p.R235Q		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	neuronal pentraxin I precursor	235	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding				0	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			ATAGTTGGTCCGCAGTGGGAA	0.557													T	78447193	C	T	78447193	3	4	11	1	0	0	0	0	1	0	0	0	10602	652	23	1	606	1	NPTX1	17	78447193	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	433368	78447193	2748017	982	9821											
HGS	9146	broad.mit.edu	37	chr17	79667727	79667727	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcattccctccgcagaaCgtggcctcccaggccccaca	7	20	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:79667727C>T	uc002kbg.2	+	20	2096	c.2019C>T	c.(2017-2019)AAC>AAT	p.N673N	MRPL12_uc002kbh.1_5'Flank|SLC25A10_uc010wut.1_5'Flank	NM_004712	NP_004703	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine	673	Interaction with NF2.|Gln-rich.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CTCCGCAGAACGTGGCCTCCC	0.542													T	79667727	C	T	79667727	2	4	11	1	0	0	0	0	0	0	0	1	7087	535	19	1		1	HGS	17	79667727	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1220534	79667727	1527483	983	9822											
PCYT2	5833	broad.mit.edu	37	chr17	79865653	79865653	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccgccgccgactcacctggCtgctgtgatgggctttggtt	13	13	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:79865653C>G	uc002kcf.1	-	5	551	c.488G>C	c.(487-489)AGC>ACC	p.S163T	PCYT2_uc010wva.1_Missense_Mutation_p.S131T|PCYT2_uc010wvb.1_Missense_Mutation_p.S131T|PCYT2_uc002kce.1_Missense_Mutation_p.S85T|PCYT2_uc002kcg.1_Missense_Mutation_p.S174T|PCYT2_uc002kch.1_Missense_Mutation_p.S163T|PCYT2_uc002kci.1_Missense_Mutation_p.S104T|PCYT2_uc010dii.1_Missense_Mutation_p.S163T|PCYT2_uc010wvc.1_Missense_Mutation_p.S85T	NM_002861	NP_002852	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	163	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACTCACCTGGCTGCTGTGATG	0.662													G	79865653	C	G	79865653	3	3	11	1	0	0	0	0	1	0	0	0	11612	797	28	5	775	5	PCYT2	17	79865653	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	197926	79865653	1329557	984	9823											
FOXK2	3607	broad.mit.edu	37	chr17	80545092	80545092	+	Frame_Shift_Del	DEL	A	A	-													accaataaaaactgtaacacAaaacggcactcacgtggcat							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:80545091_80545091CA>C	uc002kfn.3	+	7	1900	c.1729_1729CA>C	c.(1729-1731)caafs	p.Q577fs	FOXK2_uc002kfm.1_Frame_Shift_Del_p.Q577fs|FOXK2_uc010diu.3_Intron	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	577					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			AACTGTAACACAAAACGGCAC	0.567													-	80545092	A	-	80545092	7	5	11	1	0	1	0	1	0	0	0	0	6015	130	5	0	1760	0	FOXK2	17	80545092	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	679439	80545092	650118	985	9824											
MYOM1	8736	broad.mit.edu	37	chr18	3215000	3215000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagagctcagggcgtgctgCgaggcctgctgctgggagga	18	10	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:3215000C>T	uc002klp.2	-	2	556	c.222G>A	c.(220-222)TCG>TCA	p.S74S	MYOM1_uc002klq.2_Silent_p.S74S	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	74						striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						GGGCGTGCTGCGAGGCCTGCT	0.682													T	3215000	C	T	3215000	2	4	11	1	0	0	0	0	0	0	0	1	10091	755	27	1		1	MYOM1	18	3215000	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08		3215000	74862248	986	9825											
CTAGE1	64693	broad.mit.edu	37	chr18	19995706	19995706	+	Frame_Shift_Del	DEL	G	G	-													acacggttcctggaggaggtGgggggaaaggaggtcctctt							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:19995705_19995705TG>T	uc002ktv.1	-	0	2174	c.2070_2070CA>A	c.(2068-2070)ccafs	p.P690fs		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	690	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CTGGAGGAGGTGGGGGGAAAG	0.498													-	19995706	G	-	19995706	7	5	11	1	0	1	0	1	0	0	0	0	3992	1348	47	0	172	0	CTAGE1	18	19995706	Frame_Shift_Del	DEL	G	TCGA-BR-4256-01A-01D-1126-08	16780706	19995706	58081542	987	9826											
RBBP8	5932	broad.mit.edu	37	chr18	20516850	20516850	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagctgtggaagccctaaCtctgcagatacatctagtga	10	10	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:20516850C>A	uc002ktw.2	+	2	367	c.36C>A	c.(34-36)AAC>AAA	p.N12K	RBBP8_uc002kty.2_Missense_Mutation_p.N12K|RBBP8_uc002ktz.2_Missense_Mutation_p.N12K|RBBP8_uc002kua.2_Missense_Mutation_p.N12K|RBBP8_uc002ktx.1_Missense_Mutation_p.N12K	NM_002894	NP_002885	Q99708	COM1_HUMAN	retinoblastoma binding protein 8 isoform a	12					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)|lung(1)|skin(1)	3	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GAAGCCCTAACTCTGCAGATA	0.358								Direct_reversal_of_damage|Homologous_recombination					A	20516850	C	A	20516850	3	1	11	1	0	0	0	0	1	0	0	0	13105	564	20	5	38	5	RBBP8	18	20516850	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	521144	20516850	57560398	988	9827											
CDH2	1000	broad.mit.edu	37	chr18	25532148	25532148	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctccaccatacatgtcagcaAgtttcttgaaccgtggcccc	7	15	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:25532148A>T	uc002kwg.2	-	16	3149	c.2690T>A	c.(2689-2691)CTT>CAT	p.L897H	CDH2_uc010xbn.1_Missense_Mutation_p.L866H	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	897	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4						CATGTCAGCAAGTTTCTTGAA	0.468													T	25532148	A	T	25532148	3	4	11	1	0	0	0	0	1	0	0	0	3105	72	3	5	34	5	CDH2	18	25532148	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	5015298	25532148	52545100	989	9828											
ASXL3	80816	broad.mit.edu	37	chr18	31318982	31318982	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgttatcgatcagttagaAgtctgtgactctcttattcc	8	8	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:31318982A>C	uc010dmg.1	+	11	1669	c.1614A>C	c.(1612-1614)GAA>GAC	p.E538D	ASXL3_uc002kxq.2_Missense_Mutation_p.E245D	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						ATCAGTTAGAAGTCTGTGACT	0.398													C	31318982	A	C	31318982	3	2	11	1	0	0	0	0	1	0	0	0	1068	69	3	5	1656	5	ASXL3	18	31318982	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	5786834	31318982	46758266	990	9829											
FHOD3	80206	broad.mit.edu	37	chr18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-													gcgatgagaccacggagccaCcccccagtgggtgccgggac							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:34205515_34205515AC>A	uc021uiv.1	+	9	1096	c.999_999AC>A	c.(997-999)ccafs	p.P333fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzt.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P158fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P86fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	333	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCACGGAGCCACCCCCCAGTG	0.677													-	34205516	C	-	34205516	7	5	11	1	0	1	0	1	0	0	0	0	5883	507	18	0	1038	0	FHOD3	18	34205516	Frame_Shift_Del	DEL	C	TCGA-BR-4256-01A-01D-1126-08	2886534	34205516	43871732	991	9830											
KIAA1632	57724	broad.mit.edu	37	chr18	43497754	43497754	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaccagaattcccaatagTgggatgccttctgcacagaa	10	10	1	2	rs113333959		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:43497754T>C	uc002lbm.2	-	17	3229	c.3129A>G	c.(3127-3129)CCA>CCG	p.P1043P	KIAA1632_uc002lbo.1_Silent_p.P1043P|KIAA1632_uc010xcq.1_5'Flank|KIAA1632_uc010xcr.1_5'Flank|KIAA1632_uc010xcs.1_5'Flank|KIAA1632_uc002lbn.2_5'UTR	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1043					autophagy						0						TTCCCAATAGTGGGATGCCTT	0.413													C	43497754	T	C	43497754	2	2	11	1	0	0	0	0	0	0	0	1	8249	1683	59	3		3	KIAA1632	18	43497754	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	9292238	43497754	34579494	992	9831											
TCEB3B	51224	broad.mit.edu	37	chr18	44560001	44560001	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggggacctctcccacgtcGctgagggcgtccggattgtt	14	12	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:44560001G>A	uc002lcr.1	-	1	1988	c.1635C>T	c.(1633-1635)AGC>AGT	p.S545S	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	545	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						CTCCCACGTCGCTGAGGGCGT	0.607													A	44560001	G	A	44560001	2	1	11	1	0	0	0	0	0	0	0	1	15679	1078	38	1		1	TCEB3B	18	44560001	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1062247	44560001	33517247	993	9832											
MYO5B	4645	broad.mit.edu	37	chr18	47488638	47488638	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatcatcagttttacctTacattcttcatccaacaggt	4	11	4	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:47488638T>C	uc002leb.2	-	12	1831	c.1543A>G	c.(1543-1545)AAG>GAG	p.K515E	MYO5B_uc002lec.1_Missense_Mutation_p.K514E	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	515	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		AGTTTTACCTTACATTCTTCA	0.398													C	47488638	T	C	47488638	3	2	11	1	0	0	0	0	1	0	0	0	10079	1763	61	3	4119	3	MYO5B	18	47488638	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	2928637	47488638	30588610	994	9833											
MAPK4	5596	broad.mit.edu	37	chr18	48190774	48190774	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccaacgtgctgcacagggAcctgaagcccgccaacatct	10	16	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:48190774A>G	uc002lev.2	+	2	1446	c.446A>G	c.(445-447)GAC>GGC	p.D149G	MAPK4_uc010xdm.1_Intron|MAPK4_uc010doz.2_Missense_Mutation_p.D149G	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	149	Protein kinase.	Proton acceptor (By similarity).			cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)		CTGCACAGGGACCTGAAGCCC	0.572													G	48190774	A	G	48190774	3	3	11	1	0	0	0	0	1	0	0	0	9280	275	10	3	448	3	MAPK4	18	48190774	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	702136	48190774	29886474	995	9834											
DCC	1630	broad.mit.edu	37	chr18	50866217	50866217	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggttatggcgttgggagcCcttacgctgagacagtgcgt	15	9	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:50866217C>A	uc002lfe.1	+	15	2886	c.2299C>A	c.(2299-2301)CCT>ACT	p.P767T	DCC_uc010xdr.1_Missense_Mutation_p.P615T|DCC_uc010dpf.1_Missense_Mutation_p.P422T	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	767	Extracellular (Potential).|Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGTTGGGAGCCCTTACGCTGA	0.458													A	50866217	C	A	50866217	3	1	11	1	0	0	0	0	1	0	0	0	4282	623	22	5	2357	5	DCC	18	50866217	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2675443	50866217	27211031	996	9835											
C18orf54	162681	broad.mit.edu	37	chr18	51888064	51888064	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaacttcatatcctgtagaaGacacaccgttaatgacatag	6	9	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:51888064G>C	uc002lfn.3	+	3	451	c.335G>C	c.(334-336)AGA>ACA	p.R112T	C18orf54_uc002lfo.3_Missense_Mutation_p.R112T	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	hypothetical protein LOC162681 precursor	112						extracellular region				ovary(1)|skin(1)	2				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		TCCTGTAGAAGACACACCGTT	0.338													C	51888064	G	C	51888064	3	2	11	1	0	0	0	0	1	0	0	0	1904	942	33	5	341	5	C18orf54	18	51888064	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1021847	51888064	26189184	997	9836											
WDR7	23335	broad.mit.edu	37	chr18	54424020	54424020	+	Frame_Shift_Del	DEL	T	T	-													agttcagacaaagggggctcTtttttaactggaaaacgagc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:54424019_54424019CT>C	uc002lgk.1	+	14	2406	c.2195_2195CT>C	c.(2194-2196)tctfs	p.S732fs	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Frame_Shift_Del_p.S732fs	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	732										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AAAGGGGGCTCTTTTTTAACT	0.428													-	54424020	T	-	54424020	7	5	11	1	0	1	0	1	0	0	0	0	17317	1596	56	0	2250	0	WDR7	18	54424020	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	2535956	54424020	23653228	998	9837											
ALPK2	115701	broad.mit.edu	37	chr18	56203863	56203863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgtcccccaacctgagcGctgccctgctccttccctag	7	21	0	1	rs139032503		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:56203863G>A	uc002lhj.3	-	5	3770	c.3556C>T	c.(3556-3558)CGC>TGC	p.R1186C	ALPK2_uc002lhk.1_Missense_Mutation_p.R517C	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1186							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						CAACCTGAGCGCTGCCCTGCT	0.552													A	56203863	G	A	56203863	3	1	11	1	0	0	0	0	1	0	0	0	545	1087	38	1	2992	1	ALPK2	18	56203863	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1779843	56203863	21873385	999	9838											
MC4R	4160	broad.mit.edu	37	chr18	58038752	58038752	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtgagacatgaagcacacAcaatatggattctgaggaca	10	7	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:58038752A>G	uc002lie.1	-	1	1250	c.831T>C	c.(829-831)TGT>TGC	p.C277C		NM_005912	NP_005903	P32245	MC4R_HUMAN	melanocortin 4 receptor	277	Extracellular (Potential).				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			lung(1)	1		Colorectal(73;0.0946)				TGAAGCACACACAATATGGAT	0.423													G	58038752	A	G	58038752	2	3	11	1	0	0	0	0	0	0	0	1	9366	157	6	3		3	MC4R	18	58038752	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	1834889	58038752	20038496	1000	9839											
PIGN	23556	broad.mit.edu	37	chr18	59742043	59742043	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgatatgacgagaacaAtgagaaaaaggctggaaaaa	11	4	1	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:59742043A>G	uc002lii.3	-	30	3036	c.2588T>C	c.(2587-2589)ATT>ACT	p.I863T	PIGN_uc002lij.3_Missense_Mutation_p.I863T	NM_176787	NP_789744	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	863	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5		Colorectal(73;0.187)				GACGAGAACAATGAGAAAAAG	0.323													G	59742043	A	G	59742043	3	3	11	1	0	0	0	0	1	0	0	0	11893	101	4	3	219	3	PIGN	18	59742043	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	1703291	59742043	18335205	1001	9840											
TSHZ1	10194	broad.mit.edu	37	chr18	72998236	72998236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtccaagcccaggaagCgctccctgatggagatggag	16	10	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:72998236C>T	uc002lly.2	+	2	1302	c.739C>T	c.(739-741)CGC>TGC	p.R247C		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	292						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCCCAGGAAGCGCTCCCTGAT	0.577													T	72998236	C	T	72998236	3	4	11	1	0	0	0	0	1	0	0	0	16620	768	27	1	741	1	TSHZ1	18	72998236	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	13256193	72998236	5079012	1002	9841											
SALL3	27164	broad.mit.edu	37	chr18	76757273	76757273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagaaacagcagccagccGcccattcacgcggtttatcg	9	15	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:76757273G>A	uc002lmt.2	+	3	3854	c.3854G>A	c.(3853-3855)CGC>CAC	p.R1285H	SALL3_uc010dra.2_Missense_Mutation_p.R820H	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	1285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCAGCCAGCCGCCCATTCACG	0.572													A	76757273	G	A	76757273	3	1	11	1	0	0	0	0	1	0	0	0	13812	1087	38	1	3864	1	SALL3	18	76757273	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3759037	76757273	1319975	1003	9842											
MED16	10025	broad.mit.edu	37	chr19	873579	873579	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttgatcatgaccttgtcaAtgtctacaaggagacgtggg	13	7	3	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:873579A>G	uc002lqd.1	-	11	1926	c.1775T>C	c.(1774-1776)ATT>ACT	p.I592T	MED16_uc010drw.1_Missense_Mutation_p.I417T|MED16_uc002lqe.2_Missense_Mutation_p.I581T|MED16_uc002lqf.2_Missense_Mutation_p.I581T|MED16_uc010xfv.1_RNA|MED16_uc010xfw.1_Missense_Mutation_p.I512T|MED16_uc010xfx.1_Missense_Mutation_p.I437T|MED16_uc010xfy.1_Missense_Mutation_p.I169T|MED16_uc010xfz.1_RNA	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	592					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCTTGTCAATGTCTACAAG	0.577													G	873579	A	G	873579	3	3	11	1	0	0	0	0	1	0	0	0	9434	101	4	3	882	3	MED16	19	873579	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08		873579	58255404	1004	9843											
EFNA2	1943	broad.mit.edu	37	chr19	1298589	1298589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtggaccggccctgcctgcGactgaaggtgtacgtgcggc	16	12	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:1298589G>A	uc002lry.1	+	3	494	c.494G>A	c.(493-495)CGA>CAA	p.R165Q		NM_001405	NP_001396	O43921	EFNA2_HUMAN	ephrin-A2 precursor	165					cell-cell signaling	anchored to membrane|plasma membrane	ephrin receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTGCCTGCGACTGAAGGTG	0.627													A	1298589	G	A	1298589	3	1	11	1	0	0	0	0	1	0	0	0	4951	1058	37	1	504	1	EFNA2	19	1298589	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	425010	1298589	57830394	1005	9844											
TMPRSS9	360200	broad.mit.edu	37	chr19	2422198	2422198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccactgctaggggacagaCgccatttccagacgccccgg	11	16	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:2422198C>T	uc010xgx.1	+	13	2399	c.2399C>T	c.(2398-2400)ACG>ATG	p.T800M		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	800	Extracellular (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGGACAGACGCCATTTCCA	0.642													T	2422198	C	T	2422198	3	4	11	1	0	0	0	0	1	0	0	0	16250	536	19	1	2449	1	TMPRSS9	19	2422198	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1123609	2422198	56706785	1006	9845											
TLE2	7089	broad.mit.edu	37	chr19	3028785	3028785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagaacttgaagggctggCcggactggagcggggtctgg	19	8	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:3028785C>T	uc002lww.2	-	2	304	c.41G>A	c.(40-42)GGC>GAC	p.G14D	TLE2_uc010dth.2_Missense_Mutation_p.G14D|TLE2_uc010xhc.1_5'UTR|TLE2_uc010dti.2_Missense_Mutation_p.G27D|TLE2_uc010xhd.1_Missense_Mutation_p.G14D	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	14	Gln-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGGGCTGGCCGGACTGGAG	0.642													T	3028785	C	T	3028785	3	4	11	1	0	0	0	0	1	0	0	0	15936	739	26	2	2269	2	TLE2	19	3028785	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	606587	3028785	56100198	1007	9846											
ATCAY	85300	broad.mit.edu	37	chr19	3907777	3907777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacatgcccggggacagcgCggatctatttggggacggca	16	10	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:3907777C>T	uc002lyy.3	+	5	834	c.404C>T	c.(403-405)GCG>GTG	p.A135V	ATCAY_uc010xhz.1_Missense_Mutation_p.A141V|ATCAY_uc010dts.2_5'Flank	NM_033064	NP_149053	Q86WG3	ATCAY_HUMAN	caytaxin	135					transport		protein binding			breast(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GGGGACAGCGCGGATCTATTT	0.657													T	3907777	C	T	3907777	3	4	11	1	0	0	0	0	1	0	0	0	1077	768	27	1	418	1	ATCAY	19	3907777	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	878992	3907777	55221206	1008	9847											
SH3GL1	6455	broad.mit.edu	37	chr19	4365543	4365543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcgcccagaagcccctcCgactgcgggtagccggggtt	13	16	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:4365543C>T	uc002maj.2	-	4	373	c.267G>A	c.(265-267)TCG>TCA	p.S89S	SH3GL1_uc002mak.2_Intron|SH3GL1_uc010xig.1_Intron	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	89	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GAAGCCCCTCCGACTGCGGGT	0.652			T	MLL	AL								T	4365543	C	T	4365543	2	4	11	1	0	0	0	0	0	0	0	1	14250	639	23	1		1	SH3GL1	19	4365543	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	457766	4365543	54763440	1009	9848											
PLIN4	729359	broad.mit.edu	37	chr19	4512549	4512549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggccacattcgcagcacCggtgaccccactgcagacag	10	15	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:4512549C>T	uc002mar.1	-	3	1381	c.1381G>A	c.(1381-1383)GGT>AGT	p.G461S	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	461	27 X 33 AA approximate tandem repeat.|12.					lipid particle|plasma membrane					0						TTCGCAGCACCGGTGACCCCA	0.577													T	4512549	C	T	4512549	3	4	11	1	0	0	0	0	1	0	0	0	12092	652	23	1	2708	1	PLIN4	19	4512549	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	147006	4512549	54616434	1010	9849											
EMR1	2015	broad.mit.edu	37	chr19	6924780	6924780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccacctttctgctgtgtcGctccatccgaaatcacaaca	6	16	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:6924780G>A	uc002mfw.2	+	15	1921	c.1883G>A	c.(1882-1884)CGC>CAC	p.R628H	EMR1_uc010dvc.2_Intron|EMR1_uc010dvb.2_Missense_Mutation_p.R576H|EMR1_uc010xji.1_Missense_Mutation_p.R487H|EMR1_uc010xjj.1_Missense_Mutation_p.R451H	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	628	Cytoplasmic (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					CTGCTGTGTCGCTCCATCCGA	0.517													A	6924780	G	A	6924780	3	1	11	1	0	0	0	0	1	0	0	0	5104	1087	38	1	1941	1	EMR1	19	6924780	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2412231	6924780	52204203	1011	9850											
ZNF358	140467	broad.mit.edu	37	chr19	7585134	7585134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagagctccaacttgcaaCaccacctgcgcatccacacg	8	17	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:7585134C>T	uc002mgn.2	+	2	1176	c.1006C>T	c.(1006-1008)CAC>TAC	p.H336Y	MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	336	C2H2-type 7.				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						CAACTTGCAACACCACCTGCG	0.697													T	7585134	C	T	7585134	3	4	11	1	0	0	0	0	1	0	0	0	17864	478	17	4	1008	4	ZNF358	19	7585134	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	660354	7585134	51543849	1012	9851											
HNRNPM	4670	broad.mit.edu	37	chr19	8550540	8550540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgggtcctggcattgacCgcctcgggggtgccggcatg	18	11	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:8550540C>T	uc010dwe.2	+	14	1308	c.1228C>T	c.(1228-1230)CGC>TGC	p.R410C	HNRNPM_uc010xke.1_Missense_Mutation_p.R356C|HNRNPM_uc010dwd.2_Missense_Mutation_p.R371C|HNRNPM_uc002mka.2_Missense_Mutation_p.R275C|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	410	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].|2.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0						TGGCATTGACCGCCTCGGGGG	0.647													T	8550540	C	T	8550540	3	4	11	1	0	0	0	0	1	0	0	0	7271	652	23	1	1282	1	HNRNPM	19	8550540	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	965406	8550540	50578443	1013	9852											
MBD3L1	85509	broad.mit.edu	37	chr19	8953580	8953580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagactgcagggactccagGcttacagcagtgcaggagaa	15	9	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:8953580G>A	uc002mko.2	+	1	312	c.226G>A	c.(226-228)GCT>ACT	p.A76T		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like	76	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						GGGACTCCAGGCTTACAGCAG	0.517													A	8953580	G	A	8953580	3	1	11	1	0	0	0	0	1	0	0	0	9345	1203	42	2	228	2	MBD3L1	19	8953580	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	403040	8953580	50175403	1014	9853											
MUC16	94025	broad.mit.edu	37	chr19	9047875	9047875	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagtggagacagtcaaAgttggaacaacagaacttgc	10	9	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:9047875A>C	uc002mkp.2	-	5	33960	c.33756T>G	c.(33754-33756)ACT>ACG	p.T11252T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11254	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGACAGTCAAAGTTGGAACAA	0.483													C	9047875	A	C	9047875	2	2	11	1	0	0	0	0	0	0	0	1	9973	59	3	5		5	MUC16	19	9047875	Silent	SNP	A	TCGA-BR-4256-01A-01D-1126-08	94295	9047875	50081108	1015	9854											
MUC16	94025	broad.mit.edu	37	chr19	9061285	9061285	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacttctctctgttgctgAgctggtctcttgagaggtac	11	10	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:9061285A>C	uc002mkp.2	-	3	26365	c.26161T>G	c.(26161-26163)TCA>GCA	p.S8721A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8723	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCTGTTGCTGAGCTGGTCTCT	0.502													C	9061285	A	C	9061285	3	2	11	1	0	0	0	0	1	0	0	0	9973	304	11	5	17690	5	MUC16	19	9061285	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	13410	9061285	50067698	1016	9855											
MUC16	94025	broad.mit.edu	37	chr19	9085145	9085145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacaagccaggtggacctgCgctgtttactgggatgcttg	15	9	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:9085145C>T	uc002mkp.2	-	1	6874	c.6670G>A	c.(6670-6672)GCA>ACA	p.A2224T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2224	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGTGGACCTGCGCTGTTTACT	0.483													T	9085145	C	T	9085145	3	4	11	1	0	0	0	0	1	0	0	0	9973	768	27	1	37189	1	MUC16	19	9085145	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	23860	9085145	50043838	1017	9856											
COL5A3	50509	broad.mit.edu	37	chr19	10071325	10071325	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccactgccccaccctcttAcccggcagccatcctggggg	11	19	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:10071325A>G	uc002mmq.1	-	66	5177	c.5091_splice	c.e66+1	p.R1697_splice		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein						collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			CCACCCTCTTACCCGGCAGCC	0.617													G	10071325	A	G	10071325	5	3	11	1	0	0	0	0	0	0	1	0	3698	405	14	3	152	3	COL5A3	19	10071325	Splice_Site	SNP	A	TCGA-BR-4256-01A-01D-1126-08	986180	10071325	49057658	1018	9857											
PPAN-P2RY11	692312	broad.mit.edu	37	chr19	10220665	10220665	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaagttccccaacatgagcCgcctgcaggacatcagcgag	11	13	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:10220665C>A	uc002mna.2	+	7	667	c.667C>A	c.(667-669)CGC>AGC	p.R223S	PPAN-P2RY11_uc010xla.1_Missense_Mutation_p.R223S|P2RY11_uc002mnc.2_5'Flank|PPAN_uc002mmz.1_Missense_Mutation_p.R223S|PPAN_uc002mnb.1_Missense_Mutation_p.R170S	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	223	Brix.				RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CAACATGAGCCGCCTGCAGGA	0.637													A	10220665	C	A	10220665	3	1	11	1	0	0	0	0	1	0	0	0	12289	652	23	5	693	5	PPAN-P2RY11	19	10220665	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	149340	10220665	48908318	1019	9858											
CDC37	11140	broad.mit.edu	37	chr19	10503997	10503997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggccgagccgcttcttgcGctcctcctcctcgtactcct	10	18	1	0	rs143134175		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:10503997G>A	uc002mof.1	-	6	963	c.847C>T	c.(847-849)CGC>TGC	p.R283C	CDC37_uc002moe.1_Missense_Mutation_p.R238C|CDC37_uc010dxf.1_Missense_Mutation_p.R120C|CDC37_uc002mog.1_Intron|CDC37_uc002moh.2_Missense_Mutation_p.R283C	NM_007065	NP_008996	Q16543	CDC37_HUMAN	cell division cycle 37 protein	283					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding				0			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CGCTTCTTGCGCTCCTCCTCC	0.692													A	10503997	G	A	10503997	3	1	11	1	0	0	0	0	1	0	0	0	3068	1087	38	1	301	1	CDC37	19	10503997	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	283332	10503997	48624986	1020	9859											
SLC44A2	57153	broad.mit.edu	37	chr19	10738420	10738420	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcacggatatcatatgcTgtgtgttcctgctcctggcc	11	12	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:10738420T>C	uc002mpf.2	+	3	248	c.109T>C	c.(109-111)TGT>CGT	p.C37R	SLC44A2_uc002mpe.3_Missense_Mutation_p.C35R	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	solute carrier family 44, member 2 isoform 1	37	Helical; (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			ovary(1)	1			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TATCATATGCTGTGTGTTCCT	0.587													C	10738420	T	C	10738420	3	2	11	1	0	0	0	0	1	0	0	0	14636	1580	55	3	154	3	SLC44A2	19	10738420	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	234423	10738420	48390563	1021	9860											
ELAVL3	1995	broad.mit.edu	37	chr19	11577547	11577547	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggttggtcttgctgtcGtcagtggctccatttgtacc	12	9	2	1	rs144461011		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:11577547G>A	uc002mry.1	-	2	485	c.105C>T	c.(103-105)GAC>GAT	p.D35D	ELAVL3_uc002mrx.1_Silent_p.D35D	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	35					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)|skin(1)	3						TCTTGCTGTCGTCAGTGGCTC	0.488													A	11577547	G	A	11577547	2	1	11	1	0	0	0	0	0	0	0	1	5051	1136	40	1		1	ELAVL3	19	11577547	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	839127	11577547	47551436	1022	9861											
ZNF44	51710	broad.mit.edu	37	chr19	12384634	12384634	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataacttaagcctttcccacActgcttatgtgtatatgact	5	10	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:12384634A>G	uc010xmj.1	-	5	785	c.580T>C	c.(580-582)TGT>CGT	p.C194R	ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.C146R	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	zinc finger protein 44 isoform 1	194	C2H2-type 1; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CCTTTCCCACACTGCTTATGT	0.423													G	12384634	A	G	12384634	3	3	11	1	0	0	0	0	1	0	0	0	17909	159	6	3	1415	3	ZNF44	19	12384634	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	807087	12384634	46744349	1023	9862											
ZNF490	57474	broad.mit.edu	37	chr19	12721453	12721453	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctggacttgctcctcgagGggtcgctccatctggaaact	11	13	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:12721453G>T	uc002mtz.2	-	1	171	c.42C>A	c.(40-42)CCC>CCA	p.P14P	ZNF791_uc002mua.2_5'Flank|ZNF791_uc010xml.1_5'Flank|ZNF791_uc010dyu.1_5'Flank|ZNF791_uc010xmm.1_5'Flank	NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCTCCTCGAGGGGTCGCTCCA	0.582													T	12721453	G	T	12721453	2	4	11	1	0	0	0	0	0	0	0	1	17938	1219	43	5		5	ZNF490	19	12721453	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	336819	12721453	46407530	1024	9863											
ASNA1	439	broad.mit.edu	37	chr19	12856282	12856282	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcaagaagatgatgcaggAggccatgagcgcatttcccg	15	9	0	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:12856282A>C	uc002muv.2	+	3	415	c.401A>C	c.(400-402)GAG>GCG	p.E134A	ASNA1_uc002muw.2_Missense_Mutation_p.E133A	NM_004317	NP_004308	O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog	134					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			ovary(2)	2					Adenosine triphosphate(DB00171)	ATGATGCAGGAGGCCATGAGC	0.642													C	12856282	A	C	12856282	3	2	11	1	0	0	0	0	1	0	0	0	1047	304	11	5	411	5	ASNA1	19	12856282	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	134829	12856282	46272701	1025	9864											
EMR2	30817	broad.mit.edu	37	chr19	14863294	14863294	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggcacagcagagagacGctcagccccatgtaggtgat	14	10	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:14863294G>A	uc002mzp.1	-	15	2091	c.1635C>T	c.(1633-1635)AGC>AGT	p.S545S	EMR2_uc010dzs.1_Silent_p.S4S|EMR2_uc010xnw.1_Silent_p.S487S|EMR2_uc002mzo.1_Silent_p.S534S|EMR2_uc002mzq.1_Silent_p.S485S|EMR2_uc002mzr.1_Silent_p.S496S|EMR2_uc002mzs.1_Silent_p.S403S|EMR2_uc002mzt.1_Silent_p.S441S|EMR2_uc002mzu.1_Silent_p.S452S|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	545	Helical; Name=1; (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4						GCAGAGAGACGCTCAGCCCCA	0.572													A	14863294	G	A	14863294	2	1	11	1	0	0	0	0	0	0	0	1	5105	1078	38	1		1	EMR2	19	14863294	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2007012	14863294	44265689	1026	9865											
OR10H1	26539	broad.mit.edu	37	chr19	15918305	15918305	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaacttcaacagaggtggCacatggcaagcaaaatggtg	12	9	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:15918305C>T	uc002nbq.2	-	1	632	c.543G>A	c.(541-543)GTG>GTA	p.V181V		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H,	181	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ACAGAGGTGGCACATGGCAAG	0.582													T	15918305	C	T	15918305	2	4	11	1	0	0	0	0	0	0	0	1	10905	697	25	2		2	OR10H1	19	15918305	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1055011	15918305	43210678	1027	9866											
GTPBP3	84705	broad.mit.edu	37	chr19	17450245	17450245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttctgaccctcccccaggtCggaagcctgtgtccatcgtg	10	16	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:17450245C>T	uc010eas.2	+	7	876	c.811C>T	c.(811-813)CGG>TGG	p.R271W	GTPBP3_uc010xpo.1_Missense_Mutation_p.R293W|GTPBP3_uc010ear.1_RNA|GTPBP3_uc002ngh.3_Missense_Mutation_p.R271W|GTPBP3_uc002ngg.3_Missense_Mutation_p.R303W|GTPBP3_uc002ngi.3_5'UTR	NM_032620	NP_116009	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial) isoform V	271					tRNA modification	mitochondrion	GTP binding|GTPase activity			skin(1)	1						TCCCCCAGGTCGGAAGCCTGT	0.622													T	17450245	C	T	17450245	3	4	11	1	0	0	0	0	1	0	0	0	6881	875	31	1	929	1	GTPBP3	19	17450245	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1531940	17450245	41678738	1028	9867											
KCNN1	3780	broad.mit.edu	37	chr19	18085948	18085948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcatcagcctctccacGgccatcctgctgggtctcgt	9	17	4	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:18085948G>A	uc002nht.2	+	4	760	c.450G>A	c.(448-450)ACG>ACA	p.T150T	KCNN1_uc010xqa.1_Silent_p.T150T	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance	150	Helical; Name=Segment S2; (Potential).				synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity				0						GCCTCTCCACGGCCATCCTGC	0.592													A	18085948	G	A	18085948	2	1	11	1	0	0	0	0	0	0	0	1	8078	1103	39	1		1	KCNN1	19	18085948	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	635703	18085948	41043035	1029	9868											
MAST3	23031	broad.mit.edu	37	chr19	18242839	18242839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taactatggcatcgtgcaccGtgacctcaaaccagacaagt	8	12	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:18242839G>A	uc002nhz.3	+	14	1466	c.1466G>A	c.(1465-1467)CGT>CAT	p.R489H		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	489	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						ATCGTGCACCGTGACCTCAAA	0.637													A	18242839	G	A	18242839	3	1	11	1	0	0	0	0	1	0	0	0	9326	1145	40	1	1520	1	MAST3	19	18242839	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	156891	18242839	40886144	1030	9869											
PDE4C	5143	broad.mit.edu	37	chr19	18329753	18329753	+	Frame_Shift_Del	DEL	A	A	-													aagggcagggtaggtacctgAaaaatgctgaatatgatagc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:18329752_18329752GA>G	uc010xqc.2	-	8	1543	c.1063_1063TC>C	c.(1063-1065)cagfs	p.Q355fs	PDE4C_uc002nik.4_Frame_Shift_Del_p.Q355fs|PDE4C_uc002nil.4_Frame_Shift_Del_p.Q355fs|PDE4C_uc002nig.4_Frame_Shift_Del_p.Q125fs|PDE4C_uc002nih.4_Frame_Shift_Del_p.Q125fs|PDE4C_uc010ebk.3_Frame_Shift_Del_p.Q249fs|PDE4C_uc002nii.4_Frame_Shift_Del_p.Q323fs|PDE4C_uc002nif.4_Frame_Shift_Del_p.Q124fs|PDE4C_uc010ebl.3_Frame_Shift_Del_p.Q69fs	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	355					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GTAGGTACCTGAAAAATGCTG	0.507													-	18329753	A	-	18329753	7	5	11	1	0	1	0	1	0	0	0	0	11641	243	9	0	1104	0	PDE4C	19	18329753	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	86914	18329753	40799230	1031	9870											
SFRS14	10147	broad.mit.edu	37	chr19	19136411	19136411	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtattttttttgtgctcacaTttctcaatgtgacaagtttc	6	7	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:19136411T>A	uc002nkx.2	-	3	892	c.746A>T	c.(745-747)AAT>ATT	p.N249I	SFRS14_uc002nkz.1_Missense_Mutation_p.N263I|SFRS14_uc002nla.1_Missense_Mutation_p.N249I|SFRS14_uc002nlb.2_Missense_Mutation_p.N249I|SFRS14_uc010xqk.1_Intron	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	249					mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)			TGTGCTCACATTTCTCAATGT	0.483													A	19136411	T	A	19136411	3	1	11	1	0	0	0	0	1	0	0	0	14170	1493	52	5	2534	5	SFRS14	19	19136411	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	806658	19136411	39992572	1032	9871											
NCAN	1463	broad.mit.edu	37	chr19	19329855	19329855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcagccacggccaagcGcagcccgagatgcccctcgg	12	19	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:19329855G>A	uc002nlz.2	+	3	304	c.205G>A	c.(205-207)GCA>ACA	p.A69T		NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	69	Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			ACGGCCAAGCGCAGCCCGAGA	0.657													A	19329855	G	A	19329855	3	1	11	1	0	0	0	0	1	0	0	0	10204	1087	38	1	211	1	NCAN	19	19329855	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	193444	19329855	39799128	1033	9872											
ZNF101	94039	broad.mit.edu	37	chr19	19790896	19790896	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catagtggagaaaagccataTgaatgtacaaggtgtggtaa	12	4	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:19790896T>C	uc002nni.1	+	4	1208	c.1098T>C	c.(1096-1098)TAT>TAC	p.Y366Y	ZNF101_uc010ecg.1_Silent_p.Y246Y|ZNF101_uc002nnj.1_Silent_p.Y246Y	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	zinc finger protein 101	366	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						AAAAGCCATATGAATGTACAA	0.388													C	19790896	T	C	19790896	2	2	11	1	0	0	0	0	0	0	0	1	17711	1471	51	3		3	ZNF101	19	19790896	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	461041	19790896	39338087	1034	9873											
ZNF626	199777	broad.mit.edu	37	chr19	20808338	20808338	+	Frame_Shift_Del	DEL	T	T	-													tcatccacacttatacatccTttttttaactgtaaattgtc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:20808337_20808337CT>C	uc002npb.1	-	3	496	c.346_346AG>G	c.(346-348)ggafs	p.G116fs	ZNF626_uc002npc.1_Frame_Shift_Del_p.G40fs	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CTTATACATCCTTTTTTTAAC	0.348													-	20808338	T	-	20808338	7	5	11	1	0	1	0	1	0	0	0	0	18047	1606	56	0	1245	0	ZNF626	19	20808338	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	1017442	20808338	38320645	1035	9874											
ZNF43	7594	broad.mit.edu	37	chr19	21992491	21992491	+	Frame_Shift_Del	DEL	T	T	-													tcatccacacttttatggtcTttttttaaatgtacattttt							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:21992490_21992490CT>C	uc002nqj.3	-	3	479	c.349_349AG>G	c.(349-351)gacfs	p.D117fs	ZNF43_uc002nql.3_Frame_Shift_Del_p.D111fs|ZNF43_uc002nqm.3_Frame_Shift_Del_p.D111fs|ZNF43_uc010ecv.3_Frame_Shift_Del_p.D111fs|ZNF43_uc002nqk.3_Frame_Shift_Del_p.D47fs	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CTTTTATGGTCTTTTTTTAAA	0.348													-	21992491	T	-	21992491	7	5	11	1	0	1	0	1	0	0	0	0	17900	1606	56	0	2085	0	ZNF43	19	21992491	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	1184153	21992491	37136492	1036	9875											
RHPN2	85415	broad.mit.edu	37	chr19	33535190	33535190	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccggtcctcatccgcacGgctttcaggatctgctgatt	10	14	3	1	rs140849987		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:33535190G>A	uc002nuf.2	-	2	216	c.150C>T	c.(148-150)GCC>GCT	p.A50A	RHPN2_uc010xro.1_5'UTR	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	50	REM.|Interaction with Rho.				signal transduction	perinuclear region of cytoplasm	protein binding			central_nervous_system(5)|ovary(1)	6	Esophageal squamous(110;0.137)					TCATCCGCACGGCTTTCAGGA	0.512													A	33535190	G	A	33535190	2	1	11	1	0	0	0	0	0	0	0	1	13351	1103	39	1		1	RHPN2	19	33535190	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	11542699	33535190	25593793	1037	9876											
GPI	2821	broad.mit.edu	37	chr19	34868778	34868778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcctccctgttcatcattGcctccaaggtatgagtgccg	9	13	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:34868778G>A	uc002nvg.1	+	6	728	c.625G>A	c.(625-627)GCC>ACC	p.A209T	GPI_uc002nvf.2_Missense_Mutation_p.A248T|GPI_uc010xrv.1_Missense_Mutation_p.A220T|GPI_uc010xrw.1_Missense_Mutation_p.A181T|GPI_uc010edl.1_Missense_Mutation_p.A209T	NM_000175	NP_000166	P06744	G6PI_HUMAN	glucose phosphate isomerase	209					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			ovary(1)|kidney(1)	2	Esophageal squamous(110;0.162)					GTTCATCATTGCCTCCAAGGT	0.597													A	34868778	G	A	34868778	3	1	11	1	0	0	0	0	1	0	0	0	6611	1319	46	2	768	2	GPI	19	34868778	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1333588	34868778	24260205	1038	9877											
ZNF599	148103	broad.mit.edu	37	chr19	35251100	35251100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaaccctttcccacattcCgtgcatgtgtaagggttatt	7	11	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:35251100C>T	uc010edn.1	-	4	994	c.606G>A	c.(604-606)ACG>ACA	p.T202T	ZNF599_uc010edm.1_Silent_p.T165T	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	zinc finger protein 599	202	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TCCCACATTCCGTGCATGTGT	0.498													T	35251100	C	T	35251100	2	4	11	1	0	0	0	0	0	0	0	1	18026	639	23	1		1	ZNF599	19	35251100	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	382322	35251100	23877883	1039	9878											
ZNF829	374899	broad.mit.edu	37	chr19	37406110	37406110	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggaaaggttgtgttcaCtgctgtccagggttggaatc	15	7	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:37406110C>T	uc002ofa.1	-	2	322	c.-40G>A	c.(-42--38)CAGTG>CAATG		ZNF568_uc010efg.2_5'Flank|ZNF568_uc010xtn.1_5'Flank|ZNF829_uc002ofb.2_Translation_Start_Site|ZNF568_uc002ofc.2_5'Flank|ZNF568_uc002ofd.2_5'Flank|ZNF568_uc010efe.2_5'Flank|ZNF568_uc010eff.1_5'Flank	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTTGTGTTCACTGCTGTCCAG	0.517													T	37406110	C	T	37406110	1	4	11	1	0	0	0	0	0	0	0	0	18179	565	20	4		4	ZNF829	19	37406110	Translation_Start_Site	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2155010	37406110	21722873	1040	9879											
RYR1	6261	broad.mit.edu	37	chr19	38939333	38939334	+	Frame_Shift_Ins	INS	-	-	C													gggatgtggagggcatgggcINSccccctgagatcaagtacgg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:38939332_38939333G>GC	uc002oit.3	+	10	1131_1132	c.1001_1002G>GC	c.(1000-1002)ggcfs	p.G334fs	RYR1_uc002oiu.3_Frame_Shift_Ins_p.G334fs	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	334					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGGGCATGGGCCCCCCTGAGA	0.639													C	38939334	-	C	38939333	7	5	11	1	0	1	1	0	0	0	0	0	13768	726	26	0	1044	0	RYR1	19	38939333	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	1533223	38939333	20189650	1041	9880											
RYR1	6261	broad.mit.edu	37	chr19	38939370	38939370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggggagtcactgtgcttcGtgcagcatgtggcctcagga	15	10	2	0	rs138647682		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:38939370G>A	uc002oit.2	+	11	1169	c.1039G>A	c.(1039-1041)GTG>ATG	p.V347M	RYR1_uc002oiu.2_Missense_Mutation_p.V347M	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	347	Cytoplasmic.|MIR 5.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACTGTGCTTCGTGCAGCATGT	0.602													A	38939370	G	A	38939370	3	1	11	1	0	0	0	0	1	0	0	0	13768	1145	40	1	1081	1	RYR1	19	38939370	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	37	38939370	20189613	1042	9881											
RYR1	6261	broad.mit.edu	37	chr19	38948733	38948733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgagcggaaggcaccacGcagtacagcaaatggtactt	13	11	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:38948733G>A	uc002oit.2	+	18	2098	c.1968G>A	c.(1966-1968)ACG>ACA	p.T656T	RYR1_uc002oiu.2_Silent_p.T656T	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	656	Cytoplasmic.|B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AAGGCACCACGCAGTACAGCA	0.612													A	38948733	G	A	38948733	2	1	11	1	0	0	0	0	0	0	0	1	13768	1074	38	1		1	RYR1	19	38948733	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	9363	38948733	20180250	1043	9882											
IL28A	282616	broad.mit.edu	37	chr19	39760138	39760138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcctcaggtgagggagcGccccatggctttggaggctg	15	12	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:39760138G>A	uc002oku.1	+	4	333	c.281G>A	c.(280-282)CGC>CAC	p.R94H		NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	interleukin 28A precursor	94					response to virus	extracellular space	cytokine activity			ovary(1)|skin(1)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GTGAGGGAGCGCCCCATGGCT	0.373													A	39760138	G	A	39760138	3	1	11	1	0	0	0	0	1	0	0	0	7682	1087	38	1	295	1	IL28A	19	39760138	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	811405	39760138	19368845	1044	9883											
TIMM50	92609	broad.mit.edu	37	chr19	39976416	39976416	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacacgctcgttttggagcTcaccggcgtcctcttgcatc	9	15	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:39976416T>C	uc002olu.1	+	6	903	c.770T>C	c.(769-771)CTC>CCC	p.L257P	TIMM50_uc002olt.1_RNA|TIMM50_uc002olv.1_5'UTR	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50	154	Mitochondrial intermembrane (Potential).|FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			ovary(1)	1	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTTTTGGAGCTCACCGGCGTC	0.453													C	39976416	T	C	39976416	3	2	11	1	0	0	0	0	1	0	0	0	15910	1551	54	3	792	3	TIMM50	19	39976416	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	216278	39976416	19152567	1045	9884											
ZNF780B	163131	broad.mit.edu	37	chr19	40542152	40542152	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcgagtaagttgtatgTgaagttgaaaggctttccca	12	5	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:40542152T>C	uc002omu.2	-	5	679	c.614A>G	c.(613-615)CAC>CGC	p.H205R	ZNF780B_uc002omv.2_Missense_Mutation_p.H57R	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	205	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGTTGTATGTGAAGTTGAAA	0.363													C	40542152	T	C	40542152	3	2	11	1	0	0	0	0	1	0	0	0	18150	1696	59	3	1891	3	ZNF780B	19	40542152	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	565736	40542152	18586831	1046	9885											
MAP3K10	4294	broad.mit.edu	37	chr19	40715080	40715080	+	Frame_Shift_Del	DEL	C	C	-													aaaggatccgatggggccagCccccctgcaagccccagcat							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:40715079_40715079GC>G	uc002ona.3	+	5	1793	c.1505_1505GC>G	c.(1504-1506)agcfs	p.S502fs		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	502					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GATGGGGCCAGCCCCCCTGCA	0.547													-	40715080	C	-	40715080	7	5	11	1	0	1	0	1	0	0	0	0	9244	738	26	0	1528	0	MAP3K10	19	40715080	Frame_Shift_Del	DEL	C	TCGA-BR-4256-01A-01D-1126-08	172928	40715080	18413903	1047	9886											
C19orf47	126526	broad.mit.edu	37	chr19	40834399	40834399	+	Frame_Shift_Del	DEL	G	G	-													gtgctggtgtccgggcgcctGgggggtgtgctgggtggaga							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:40834398_40834398TG>T	uc002oni.4	-	5	473	c.472_472CA>A	c.(472-474)aggfs	p.R158fs	C19orf47_uc002ong.3_Frame_Shift_Del_p.R17fs|C19orf47_uc002onh.3_Frame_Shift_Del_p.R91fs	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	Homo sapiens chromosome 19 open reading frame 47 (C19orf47), mRNA.	158										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			TCCGGGCGCCTGGGGGGTGTG	0.617													-	40834399	G	-	40834399	7	5	11	1	0	1	0	1	0	0	0	0	1930	1335	47	0	813	0	C19orf47	19	40834399	Frame_Shift_Del	DEL	G	TCGA-BR-4256-01A-01D-1126-08	119319	40834399	18294584	1048	9887											
BCKDHA	593	broad.mit.edu	37	chr19	41916646	41916646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggaattcatccagcccaaCgtcatctctggaatccccat	6	14	3	0	rs138025447	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:41916646C>T	uc002oqq.2	+	2	242	c.213C>T	c.(211-213)AAC>AAT	p.N71N	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Silent_p.N105N|BCKDHA_uc002oqp.1_Translation_Start_Site|BCKDHA_uc002oqr.2_Silent_p.N71N|BCKDHA_uc010xvz.1_Silent_p.N49N	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	71					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0						TCCAGCCCAACGTCATCTCTG	0.597													T	41916646	C	T	41916646	2	4	11	1	0	0	0	0	0	0	0	1	1359	535	19	1		1	BCKDHA	19	41916646	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1082247	41916646	17212337	1049	9888											
ZNF574	64763	broad.mit.edu	37	chr19	42585199	42585199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctggcagaacatcgccGcatccacacaggcgaacgac	11	16	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:42585199G>A	uc002osm.3	+	2	2610	c.2441G>A	c.(2440-2442)CGC>CAC	p.R814H	ZNF574_uc002osk.3_Missense_Mutation_p.R904H	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	814	C2H2-type 19.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				GAACATCGCCGCATCCACACA	0.612													A	42585199	G	A	42585199	3	1	11	1	0	0	0	0	1	0	0	0	18003	1087	38	1	2443	1	ZNF574	19	42585199	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	668553	42585199	16543784	1050	9889											
CIC	23152	broad.mit.edu	37	chr19	42796883	42796884	+	Frame_Shift_Ins	INS	-	-	C													ctggcccagccatcccaggcINSccccccaagcctggtctaca							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:42796882_42796883G>GC	uc002otf.1	+	13	3380_3381	c.3340_3341G>GC	c.(3340-3342)gccfs	p.A1114fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1114	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.S1117fs*34(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCATCCCAGGCCCCCCCAAGC	0.683			"Mis, F, S"		oligodendroglioma								C	42796884	-	C	42796883	7	5	11	1	0	1	1	0	0	0	0	0	3424	739	26	0	3395	0	CIC	19	42796883	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	211684	42796883	16332100	1051	9890											
IRGQ	126298	broad.mit.edu	37	chr19	44096194	44096194	+	Frame_Shift_Del	DEL	G	G	-													ctcctcactgggcaggctcaGggggtgccagcacagcctca							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:44096193_44096193AG>A	uc002oww.2	-	1	1975	c.1857_1857CT>T	c.(1855-1857)cctfs	p.P619fs	IRGQ_uc010eiv.2_Frame_Shift_Del_p.P619fs	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	Homo sapiens immunity-related GTPase family, Q (IRGQ), mRNA.	619							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GGGCAGGCTCAGGGGGTGCCA	0.652													-	44096194	G	-	44096194	7	5	11	1	0	1	0	1	0	0	0	0	7839	1000	35	0	19	0	IRGQ	19	44096194	Frame_Shift_Del	DEL	G	TCGA-BR-4256-01A-01D-1126-08	1299311	44096194	15032789	1052	9891											
CD3EAP	10849	broad.mit.edu	37	chr19	45911872	45911872	+	Frame_Shift_Del	DEL	A	A	-													atgtgcggaagaagaagaagAaaaaaaatcagcagctgaaa							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:45911871_45911871GA>G	uc002pbr.1	+	2	657	c.651_651GA>G	c.(649-651)aagfs	p.K217fs	PPP1R13L_uc002pbo.3_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbq.1_Frame_Shift_Del_p.K215fs|ERCC1_uc002pbt.2_3'UTR|ERCC1_uc002pbs.2_3'UTR|ERCC1_uc002pbu.2_3'UTR	NM_012099	NP_036231	O15446	RPA34_HUMAN	Homo sapiens CD3e molecule, epsilon associated protein (CD3EAP), mRNA.	215	Poly-Lys.				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	RNA polymerase I transcription factor complex|chromosome	DNA-directed RNA polymerase activity	p.K215N(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		AGAAGAAGAAGAAAAAAAATC	0.587													-	45911872	A	-	45911872	7	5	11	1	0	1	0	1	0	0	0	0	3012	247	9	0	656	0	CD3EAP	19	45911872	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	1815678	45911872	13217111	1053	9892											
ZC3H4	23211	broad.mit.edu	37	chr19	47570462	47570462	+	Frame_Shift_Del	DEL	G	G	-													cccgggcgctgccgggcgttGgggggccctgccgtggcagc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:47570462delG	uc002pga.3	-	15	3101	c.3063delC	c.(3061-3063)CCCfs	p.P1021fs	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1021							nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCCGGGCGTTGGGGGGCCCTG	0.701													-	47570462	G	-	47570462	7	5	11	1	0	1	0	1	0	0	0	0	17567	1335	47	0	852	0	ZC3H4	19	47570462	Frame_Shift_Del	DEL	G	TCGA-BR-4256-01A-01D-1126-08	1658590	47570462	11558521	1054	9893											
TMEM143	55260	broad.mit.edu	37	chr19	48835272	48835272	+	RNA	DEL	A	A	-													cgaaactccatctcaagaacAaaaaaaaatctgcaaatctg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:48835272delA	uc002piw.1	-	6		c.2395delT						Q96AN5	TM143_HUMAN	Homo sapiens cDNA FLJ10922 fis, clone OVARC1000420.							integral to membrane|mitochondrion					0		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		tctcaagaacaaaaaaaaaTC	0.229													-	48835272	A	-	48835272	6	5	11	0	1	1	0	1	0	0	0	0	16054	145	5	0		0	TMEM143	19	48835272	RNA	DEL	A	TCGA-BR-4256-01A-01D-1126-08	1264810	48835272	10293711	1055	9894											
DHDH	27294	broad.mit.edu	37	chr19	49442913	49442913	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccatggtctttggagggCagaagccagagaagatttct	12	9	2	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:49442913C>T	uc002ple.1	+	4	614	c.574C>T	c.(574-576)CAG>TAG	p.Q192*		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	dimeric dihydrodiol dehydrogenase	192					carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		CTTTGGAGGGCAGAAGCCAGA	0.562													T	49442913	C	T	49442913	4	4	11	1	0	0	0	0	0	1	0	0	4479	711	25	2	588	2	DHDH	19	49442913	Nonsense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	607641	49442913	9686070	1056	9895											
VRK3	51231	broad.mit.edu	37	chr19	50482394	50482394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggtcatatggagacacaCgcagatcctgcagcaaagct	12	10	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:50482394C>T	uc002prg.2	-	14	1480	c.1382G>A	c.(1381-1383)CGT>CAT	p.R461H	VRK3_uc002prh.1_Missense_Mutation_p.R461H|VRK3_uc002pri.1_Missense_Mutation_p.R411H|VRK3_uc010ens.2_Missense_Mutation_p.R461H|VRK3_uc010ybl.1_Missense_Mutation_p.R411H|VRK3_uc010ybm.1_Missense_Mutation_p.R230H	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	vaccinia related kinase 3 isoform 1	461						nucleus	ATP binding|protein kinase activity			stomach(1)|skin(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TGGAGACACACGCAGATCCTG	0.572													T	50482394	C	T	50482394	3	4	11	1	0	0	0	0	1	0	0	0	17218	536	19	1	46	1	VRK3	19	50482394	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1039481	50482394	8646589	1057	9896											
NAPSA	9476	broad.mit.edu	37	chr19	50861861	50861861	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccatccgaggtccgctccGcgagtgcgagcgcgcgccag	14	18	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:50861861G>A	uc002prx.2	-	9	1265	c.1212C>T	c.(1210-1212)CGC>CGT	p.R404R	NR1H2_uc002prv.3_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	napsin A preproprotein	404					proteolysis	extracellular region	aspartic-type endopeptidase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GGTCCGCTCCGCGAGTGCGAG	0.697													A	50861861	G	A	50861861	2	1	11	1	0	0	0	0	0	0	0	1	10166	1074	38	1		1	NAPSA	19	50861861	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	379467	50861861	8267122	1058	9897											
KLK4	9622	broad.mit.edu	37	chr19	51410327	51410327	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtacccgttgcagatcagggGccccccagagtcaccctgtt	11	15	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:51410327G>C	uc002pua.1	-	5	628	c.628C>G	c.(628-630)CCC>GCC	p.P210A	KLK4_uc002pty.1_3'UTR|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_Missense_Mutation_p.P115A|KLK4_uc002puc.1_RNA	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4 preproprotein	210	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CAGATCAGGGGCCCCCCAGAG	0.527													C	51410327	G	C	51410327	3	2	11	1	0	0	0	0	1	0	0	0	8406	1203	42	5	140	5	KLK4	19	51410327	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	548466	51410327	7718656	1059	9898											
KLK8	11202	broad.mit.edu	37	chr19	51503767	51503767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggccctggaacaaggccGcctgccaaggctgcgaatgg	15	13	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:51503767G>A	uc002pur.1	-	3	322	c.143C>T	c.(142-144)GCG>GTG	p.A48V	KLK9_uc002puw.1_RNA|KLK8_uc002puq.1_Missense_Mutation_p.A93V|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Missense_Mutation_p.A48V|KLK9_uc002puv.1_Intron	NM_007196	NP_009127	O60259	KLK8_HUMAN	kallikrein 8 isoform 1 preproprotein	48	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GAACAAGGCCGCCTGCCAAGG	0.597													A	51503767	G	A	51503767	3	1	11	1	0	0	0	0	1	0	0	0	8410	1087	38	1	655	1	KLK8	19	51503767	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	93440	51503767	7625216	1060	9899											
FPR1	2357	broad.mit.edu	37	chr19	52249649	52249649	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaccggatgatgcctctcAccgtcaacatggcaacggcc	10	14	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:52249649A>G	uc002pxq.2	-	2	694	c.599T>C	c.(598-600)GTG>GCG	p.V200A		NM_002029	NP_002020	P21462	FPR1_HUMAN	formyl peptide receptor 1	200	Extracellular (Potential).				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			ovary(1)|lung(1)|skin(1)	3		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GATGCCTCTCACCGTCAACAT	0.512													G	52249649	A	G	52249649	3	3	11	1	0	0	0	0	1	0	0	0	6038	159	6	3	457	3	FPR1	19	52249649	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	745882	52249649	6879334	1061	9900											
ZNF611	81856	broad.mit.edu	37	chr19	53217351	53217351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcaggcatttccactctGccaatgagaattctatagcc	8	11	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:53217351G>A	uc002pzz.2	-	6	424	c.107C>T	c.(106-108)GCA>GTA	p.A36V	ZNF611_uc010eqc.2_5'UTR|ZNF611_uc010ydo.1_Intron|ZNF611_uc010ydr.1_Intron|ZNF611_uc010ydp.1_Missense_Mutation_p.A36V|ZNF611_uc010ydq.1_Missense_Mutation_p.A36V|ZNF611_uc002qaa.3_5'UTR	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TTTCCACTCTGCCAATGAGAA	0.448													A	53217351	G	A	53217351	3	1	11	1	0	0	0	0	1	0	0	0	18034	1319	46	2	2018	2	ZNF611	19	53217351	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	967702	53217351	5911632	1062	9901											
VN1R2	317701	broad.mit.edu	37	chr19	53762612	53762612	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacctttgcattatgttaCgccctttccttcatcaccta	4	14	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:53762612C>T	uc002qbi.2	+	1	1068	c.984C>T	c.(982-984)TAC>TAT	p.Y328Y		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	328	Helical; Name=6; (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0				GBM - Glioblastoma multiforme(134;0.00301)		CATTATGTTACGCCCTTTCCT	0.443													T	53762612	C	T	53762612	2	4	11	1	0	0	0	0	0	0	0	1	17176	547	19	1		1	VN1R2	19	53762612	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	545261	53762612	5366371	1063	9902											
VN1R2	317701	broad.mit.edu	37	chr19	53762736	53762736	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccttttgttctcatgtgcCgtgaccccagcagatccagg	10	14	1	2	rs141012802	by1000genomes	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:53762736C>A	uc002qbi.2	+	1	1192	c.1108C>A	c.(1108-1110)CGT>AGT	p.R370S		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	370	Cytoplasmic (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0				GBM - Glioblastoma multiforme(134;0.00301)		TCTCATGTGCCGTGACCCCAG	0.428													A	53762736	C	A	53762736	3	1	11	1	0	0	0	0	1	0	0	0	17176	652	23	5	1110	5	VN1R2	19	53762736	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	124	53762736	5366247	1064	9903											
LENG1	79165	broad.mit.edu	37	chr19	54660581	54660582	+	Frame_Shift_Ins	INS	-	-	C													cgccgtgctgtctcttcttcINScccagatgcttctgcatctc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:54660580_54660581T>TC	uc002qdm.3	-	2	508_509	c.495_496A>GA	c.(493-498)gggaagfs	p.G165fs		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 1 (LENG1), mRNA.	165										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGTCTCTTCTTCCCCAGATGCT	0.634													C	54660582	-	C	54660581	7	5	11	1	0	1	1	0	0	0	0	0	8723	842	30	0	307	0	LENG1	19	54660581	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	897845	54660581	4468402	1065	9904											
LILRB5	10990	broad.mit.edu	37	chr19	54758702	54758702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccctgggctgaggtcacaGgactcatggagaattcagcc	12	12	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:54758702G>A	uc002qex.2	-	6	1262	c.1151C>T	c.(1150-1152)CCT>CTT	p.P384L	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.P375L|LILRB5_uc002qey.2_Missense_Mutation_p.P384L|LILRB5_uc002qez.2_Missense_Mutation_p.P284L|LILRB5_uc002qfa.1_Missense_Mutation_p.P274L|LILRB5_uc010yes.1_RNA	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	384	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGAGGTCACAGGACTCATGGA	0.557													A	54758702	G	A	54758702	3	1	11	1	0	0	0	0	1	0	0	0	8794	1000	35	4	656	4	LILRB5	19	54758702	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	98121	54758702	4370281	1066	9905											
NLRP2	55655	broad.mit.edu	37	chr19	55489190	55489190	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcttcaaaacagaagcacaAggtgggtgtcaggacctcca	11	11	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:55489190A>C	uc002qij.2	+	4	482	c.396A>C	c.(394-396)CAA>CAC	p.Q132H	NLRP2_uc010yfp.1_Missense_Mutation_p.Q109H|NLRP2_uc010esn.2_Intron|NLRP2_uc010eso.2_Missense_Mutation_p.Q132H|NLRP2_uc010esp.2_Missense_Mutation_p.Q132H	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	132					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CAGAAGCACAAGGTGGGTGTC	0.527													C	55489190	A	C	55489190	3	2	11	1	0	0	0	0	1	0	0	0	10477	86	3	5	406	5	NLRP2	19	55489190	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	730488	55489190	3639793	1067	9906											
PTPRH	5794	broad.mit.edu	37	chr19	55708650	55708650	+	Frame_Shift_Del	DEL	G	G	-													ttggggatcttgccccctccGgggatgtcccttgctggccc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:55708649_55708649CG>C	uc002qjq.3	-	8	1899	c.1826_1826CG>G	c.(1825-1827)cggfs	p.R609fs	PTPRH_uc010esv.3_Frame_Shift_Del_p.R431fs|PTPRH_uc002qjs.2_Frame_Shift_Del_p.R616fs	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	609	Fibronectin type-III 7.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TTGCCCCCTCCGGGGATGTCC	0.577													-	55708650	G	-	55708650	7	5	11	1	0	1	0	1	0	0	0	0	12803	1115	39	0	1570	0	PTPRH	19	55708650	Frame_Shift_Del	DEL	G	TCGA-BR-4256-01A-01D-1126-08	219460	55708650	3420333	1068	9907											
TMEM190	147744	broad.mit.edu	37	chr19	55889219	55889219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtctggacgtgcagcggCctcctcctcctgagctgcag	13	15	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:55889219C>T	uc002qkt.1	+	4	288	c.270C>T	c.(268-270)GGC>GGT	p.G90G		NM_139172	NP_631911	Q8WZ59	TM190_HUMAN	transmembrane protein 190 precursor	90	Helical; (Potential).					integral to membrane					0	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CGTGCAGCGGCCTCCTCCTCC	0.697													T	55889219	C	T	55889219	2	4	11	1	0	0	0	0	0	0	0	1	16111	726	26	2		2	TMEM190	19	55889219	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	180569	55889219	3239764	1069	9908											
NLRP9	338321	broad.mit.edu	37	chr19	56244332	56244332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctttatgagttttggatGccgcaacataaaatagtgtt	10	5	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:56244332G>A	uc002qly.2	-	2	893	c.865C>T	c.(865-867)CAT>TAT	p.H289Y		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	289	NACHT.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AGTTTTGGATGCCGCAACATA	0.383													A	56244332	G	A	56244332	3	1	11	1	0	0	0	0	1	0	0	0	10484	1319	46	2	2142	2	NLRP9	19	56244332	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	355113	56244332	2884651	1070	9909											
ZNF667	63934	broad.mit.edu	37	chr19	56953331	56953331	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattctctggtgaagcatcaGgggtgaaatcctattaaata	9	6	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:56953331G>T	uc002qnd.2	-	5	1195	c.1033C>A	c.(1033-1035)CTG>ATG	p.L345M	ZNF667_uc010etl.2_Missense_Mutation_p.L127M|ZNF667_uc002qne.2_Missense_Mutation_p.L345M|ZNF667_uc010etm.2_Missense_Mutation_p.L288M	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	345	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TGAAGCATCAGGGGTGAAATC	0.393													T	56953331	G	T	56953331	3	4	11	1	0	0	0	0	1	0	0	0	18071	991	35	5	803	5	ZNF667	19	56953331	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	708999	56953331	2175652	1071	9910											
ZNF548	147694	broad.mit.edu	37	chr19	57910578	57910578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcacaccggagaaaggcCgtatgagtgcagggaatgtg	15	7	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:57910578C>T	uc002qom.2	+	3	1173	c.923C>T	c.(922-924)CCG>CTG	p.P308L	ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.P311L	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAGAAAGGCCGTATGAGTGC	0.448													T	57910578	C	T	57910578	3	4	11	1	0	0	0	0	1	0	0	0	17977	652	23	1	973	1	ZNF548	19	57910578	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	957247	57910578	1218405	1072	9911											
ZNF551	90233	broad.mit.edu	37	chr19	58264857	58264858	+	Frame_Shift_Ins	INS	-	-	A													aatgggtttggggcatatgaINSaaaaaaattggatgacgatg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:58264856_58264857G>GA	uc002qpx.3	+	2	581_582	c.358_359G>GA	c.(358-360)gaafs	p.E120fs	ZNF587_uc002qqb.2_Intron|ZNF551_uc002qqa.3_Frame_Shift_Ins_p.E120fs	NM_173632	NP_775903	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 776 (ZNF776), mRNA.	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGGGGCATATGAAAAAAAATTG	0.446													A	58264858	-	A	58264857	7	5	11	1	0	1	1	0	0	0	0	0	17980	246	9	0		0	ZNF551	19	58264857	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	354279	58264857	864126	1073	9912											
ZNF274	10782	broad.mit.edu	37	chr19	58723003	58723003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcccgacacagaggacCgagtaccgcgatgtgatgct	14	12	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:58723003C>T	uc002qrq.1	+	9	1389	c.930C>T	c.(928-930)ACC>ACT	p.T310T	ZNF274_uc002qrr.1_Silent_p.T278T|ZNF274_uc002qrs.1_Silent_p.T205T|ZNF274_uc010eum.1_Silent_p.T69T	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	zinc finger protein 274 isoform c	310	KRAB 2.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		CACAGAGGACCGAGTACCGCG	0.607													T	58723003	C	T	58723003	2	4	11	1	0	0	0	0	0	0	0	1	17806	639	23	1		1	ZNF274	19	58723003	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	458146	58723003	405980	1074	9913											
ZNF324	25799	broad.mit.edu	37	chr19	58980632	58980632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccagagggccctgtaccGccgcgtgatgctagacaact	12	14	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:58980632G>A	uc002qsw.1	+	2	174	c.80G>A	c.(79-81)CGC>CAC	p.R27H	ZNF324_uc002qsx.1_5'Flank	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCCCTGTACCGCCGCGTGATG	0.572													A	58980632	G	A	58980632	3	1	11	1	0	0	0	0	1	0	0	0	17841	1087	38	1	82	1	ZNF324	19	58980632	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	257629	58980632	148351	1075	9914											
TMC2	117532	broad.mit.edu	37	chr20	2593878	2593878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctgacatgctggtaacGtacatcaccatcctgctggg	11	11	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:2593878G>A	uc002wgf.1	+	14	1797	c.1782G>A	c.(1780-1782)ACG>ACA	p.T594T	TMC2_uc002wgg.1_Silent_p.T578T|TMC2_uc010zpw.1_Silent_p.T426T|TMC2_uc010zpx.1_Silent_p.T425T	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	594	Cytoplasmic (Potential).					integral to membrane				ovary(3)	3						TGCTGGTAACGTACATCACCA	0.557													A	2593878	G	A	2593878	2	1	11	1	0	0	0	0	0	0	0	1	15982	1132	40	1		1	TMC2	20	2593878	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08		2593878	60431642	1076	9915											
ISM1	140862	broad.mit.edu	37	chr20	13273089	13273089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggaagcgaggagtttaatGccaccaaactgtttgaagtt	12	7	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:13273089G>A	uc010gce.1	+	5	862	c.856G>A	c.(856-858)GCC>ACC	p.A286T	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	286						extracellular region					0						GGAGTTTAATGCCACCAAACT	0.408													A	13273089	G	A	13273089	3	1	11	1	0	0	0	0	1	0	0	0	7860	1319	46	2	874	2	ISM1	20	13273089	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	10679211	13273089	49752431	1077	9916											
SEL1L2	80343	broad.mit.edu	37	chr20	13971151	13971151	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccccaagaattatcaaTatctctattaacagagacaa	5	9	2	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:13971151T>C	uc010gcf.2	-	1	112	c.30A>G	c.(28-30)ATA>ATG	p.I10M	SEL1L2_uc002woq.3_Translation_Start_Site|SEL1L2_uc010zrl.1_Missense_Mutation_p.I10M|SEL1L2_uc002wor.2_Intron	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	10						integral to membrane	binding			ovary(2)	2						GAATTATCAATATCTCTATTA	0.423													C	13971151	T	C	13971151	3	2	11	1	0	0	0	0	1	0	0	0	14011	1396	49	3	2116	3	SEL1L2	20	13971151	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	698062	13971151	49054369	1078	9917											
MACROD2	140733	broad.mit.edu	37	chr20	13976403	13976403	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaaagccagccacccccaCggcaacatgtaccccagcaa	6	18	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:13976403C>T	uc002wou.2	+	1	258	c.-6C>T	c.(-8--4)CACGG>CATGG		MACROD2_uc002wot.2_Translation_Start_Site|SEL1L2_uc002wor.2_5'Flank|MACROD2_uc002wos.2_RNA	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2 isoform 1												0		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GCCACCCCCACGGCAACATGT	0.443													T	13976403	C	T	13976403	1	4	11	1	0	0	0	0	0	0	0	0	9146	551	19	1		1	MACROD2	20	13976403	Translation_Start_Site	SNP	C	TCGA-BR-4256-01A-01D-1126-08	5252	13976403	49049117	1079	9918											
PCSK2	5126	broad.mit.edu	37	chr20	17462302	17462302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggaaggaaaattttgtcCgctacctggagcatgtccag	13	8	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:17462302C>T	uc002wpm.2	+	12	1824	c.1504C>T	c.(1504-1506)CGC>TGC	p.R502C	PCSK2_uc002wpl.2_Missense_Mutation_p.R483C|PCSK2_uc010zrm.1_Missense_Mutation_p.R467C|PCSK2_uc002wpn.2_Missense_Mutation_p.R156C	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	502					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAATTTTGTCCGCTACCTGGA	0.517													T	17462302	C	T	17462302	3	4	11	1	0	0	0	0	1	0	0	0	11601	652	23	1	1550	1	PCSK2	20	17462302	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3485899	17462302	45563218	1080	9919											
SNX5	27131	broad.mit.edu	37	chr20	17937586	17937586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttacttacctttgtgtgCactgtaaatttgactttgtc	7	7	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:17937586C>T	uc002wqc.2	-	2	233	c.147G>A	c.(145-147)GTG>GTA	p.V49V	SNX5_uc002wqb.2_RNA|SNX5_uc002wqd.2_Silent_p.V49V|SNX5_uc002wqe.2_5'UTR|SNX5_uc010zrt.1_Silent_p.V49V	NM_014426	NP_055241	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	49	PX.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			large_intestine(1)	1						CCTTTGTGTGCACTGTAAATT	0.438													T	17937586	C	T	17937586	2	4	11	1	0	0	0	0	0	0	0	1	14905	697	25	2		2	SNX5	20	17937586	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	475284	17937586	45087934	1081	9920											
C20orf72	92667	broad.mit.edu	37	chr20	17956339	17956339	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttcagacgtctttttacAagggaaacggttccacgaag	9	9	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:17956339A>G	uc002wqh.2	+	3	606	c.524A>G	c.(523-525)CAA>CGA	p.Q175R	C20orf72_uc010gco.2_Intron|C20orf72_uc010gcp.2_RNA	NM_052865	NP_443097	Q9BQP7	CT072_HUMAN	hypothetical protein LOC92667	175											0						GTCTTTTTACAAGGGAAACGG	0.408													G	17956339	A	G	17956339	3	3	11	1	0	0	0	0	1	0	0	0	2118	130	5	3	530	3	C20orf72	20	17956339	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	18753	17956339	45069181	1082	9921											
RALGAPA2	57186	broad.mit.edu	37	chr20	20493316	20493316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcctcttgagcattttggCgcaaaatgacctcaatgatt	7	10	2	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:20493316C>T	uc002wrz.2	-	32	4840	c.4697G>A	c.(4696-4698)CGC>CAC	p.R1566H	RALGAPA2_uc010gcx.2_Missense_Mutation_p.R1270H|RALGAPA2_uc010zsg.1_Missense_Mutation_p.R1014H|RALGAPA2_uc002wsa.1_Missense_Mutation_p.R338H	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1566					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						AGCATTTTGGCGCAAAATGAC	0.473													T	20493316	C	T	20493316	3	4	11	1	0	0	0	0	1	0	0	0	13014	768	27	1	956	1	RALGAPA2	20	20493316	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2536977	20493316	42532204	1083	9922											
GGTLC1	92086	broad.mit.edu	37	chr20	23965921	23965921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagccaccagccatgcggaCgatggcttgcaccacagcaa	10	16	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:23965921C>T	uc002wts.2	-	6	743	c.610G>A	c.(610-612)GTC>ATC	p.V204I	GGTLC1_uc002wtu.2_Missense_Mutation_p.V204I	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	204							gamma-glutamyltransferase activity			ovary(1)	1						GCCATGCGGACGATGGCTTGC	0.622													T	23965921	C	T	23965921	3	4	11	1	0	0	0	0	1	0	0	0	6365	536	19	1	71	1	GGTLC1	20	23965921	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3472605	23965921	39059599	1084	9923											
HCK	3055	broad.mit.edu	37	chr20	30659469	30659469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctgtctgctgcaggatgGggtgcatgaagtccaagttc	13	9	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:30659469G>A	uc002wxh.2	+	2	238	c.67G>A	c.(67-69)GGG>AGG	p.G23R	HCK_uc010gdy.2_Missense_Mutation_p.G2R|HCK_uc002wxi.2_Missense_Mutation_p.G2R	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	23				G->A: Myristoylation and palmitoylation are abolished, cytoplasmic and no calveolar localization; in isoform p59- HCK.	interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTGCAGGATGGGGTGCATGAA	0.587													A	30659469	G	A	30659469	3	1	11	1	0	0	0	0	1	0	0	0	6994	1232	43	4	79	4	HCK	20	30659469	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	6693548	30659469	32366051	1085	9924											
NDRG3	57446	broad.mit.edu	37	chr20	35284817	35284817	+	Splice_Site	DEL	G	G	-													ctcggtgagcttcccaggctGgggggataaaacaagagggc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:35284816_35284816TG>T	uc002xfw.3	-	15	1037	c.895_splice	c.e15-1	p.P299_splice	NDRG3_uc002xfx.3_Splice_Site_p.P287_splice|NDRG3_uc010zvq.2_Splice_Site_p.P204_splice|NDRG3_uc010zvr.2_Splice_Site_p.P187_splice	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA.	299					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CTTCCCAGGCTGGGGGGATAA	0.423													-	35284817	G	-	35284817	8	5	11	1	0	1	0	1	0	0	1	0	10253	1363	47	0		0	NDRG3	20	35284817	Splice_Site	DEL	G	TCGA-BR-4256-01A-01D-1126-08	4625348	35284817	27740703	1086	9925											
KIAA0406	9675	broad.mit.edu	37	chr20	36640099	36640099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggatgcagagccagatgaCgcagatttaaagagatccca	12	8	0	5	rs141770247	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:36640099C>T	uc002xhl.2	-	3	2329	c.2120G>A	c.(2119-2121)CGT>CAT	p.R707H	KIAA0406_uc002xhm.2_Missense_Mutation_p.R707H	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	707							binding				0		Myeloproliferative disorder(115;0.00874)				AGCCAGATGACGCAGATTTAA	0.483													T	36640099	C	T	36640099	3	4	11	1	0	0	0	0	1	0	0	0	8173	536	19	1	1177	1	KIAA0406	20	36640099	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1355282	36640099	26385421	1087	9926											
RALGAPB	57148	broad.mit.edu	37	chr20	37182676	37182676	+	Frame_Shift_Del	DEL	T	T	-													ggaattccaaacagcccgccTttttctctcacactttggat							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:37182675_37182675CT>C	uc002xiw.3	+	21	3585	c.3328_3328CT>C	c.(3328-3330)cttfs	p.L1110fs	RALGAPB_uc002xix.3_Frame_Shift_Del_p.L1106fs|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.3_Frame_Shift_Del_p.L888fs	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	1110					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AACAGCCCGCCTTTTTCTCTC	0.428													-	37182676	T	-	37182676	7	5	11	1	0	1	0	1	0	0	0	0	13015	1609	56	0	3411	0	RALGAPB	20	37182676	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	542577	37182676	25842844	1088	9927											
LPIN3	64900	broad.mit.edu	37	chr20	39986566	39986566	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcgcgggccattggcaTggcggacctcaccaaggggt	16	13	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:39986566T>C	uc002xjx.2	+	17	2175	c.2084T>C	c.(2083-2085)ATG>ACG	p.M695T	LPIN3_uc010ggh.2_Missense_Mutation_p.M696T|LPIN3_uc010zwf.1_RNA	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	lipin 3	695	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.000739)				GCCATTGGCATGGCGGACCTC	0.632													C	39986566	T	C	39986566	3	2	11	1	0	0	0	0	1	0	0	0	8920	1464	51	3	2146	3	LPIN3	20	39986566	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	2803890	39986566	23038954	1089	9928											
CHD6	84181	broad.mit.edu	37	chr20	40033290	40033290	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccccagcctgtgccccatgTtctctctctgcgggcaaagg	10	16	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:40033290T>C	uc002xka.1	-	37	8269	c.8091A>G	c.(8089-8091)GAA>GAG	p.E2697E	CHD6_uc002xjz.1_Silent_p.E234E	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2697					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				GTGCCCCATGTTCTCTCTCTG	0.522													C	40033290	T	C	40033290	2	2	11	1	0	0	0	0	0	0	0	1	3329	1722	60	3		3	CHD6	20	40033290	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	46724	40033290	22992230	1090	9929											
PTPRT	11122	broad.mit.edu	37	chr20	40727077	40727077	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctacctgggcagtgtccatcTcattcagcatcaccacagag	8	14	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:40727077T>A	uc002xkg.2	-	27	4014	c.3830A>T	c.(3829-3831)GAG>GTG	p.E1277V	PTPRT_uc010ggj.2_Missense_Mutation_p.E1296V|PTPRT_uc010ggi.2_Missense_Mutation_p.E480V	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1277	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)				AGTGTCCATCTCATTCAGCAT	0.607													A	40727077	T	A	40727077	3	1	11	1	0	0	0	0	1	0	0	0	12812	1551	54	5	515	5	PTPRT	20	40727077	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	693787	40727077	22298443	1091	9930											
PTPRT	11122	broad.mit.edu	37	chr20	40735471	40735471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcccggagctcacgcacGcagttgaagatgtccaccac	12	14	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:40735471G>A	uc002xkg.2	-	24	3529	c.3345C>T	c.(3343-3345)TGC>TGT	p.C1115C	PTPRT_uc010ggj.2_Silent_p.C1134C|PTPRT_uc010ggi.2_Silent_p.C318C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1115	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				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)				GCTCACGCACGCAGTTGAAGA	0.582													A	40735471	G	A	40735471	2	1	11	1	0	0	0	0	0	0	0	1	12812	1079	38	1		1	PTPRT	20	40735471	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	8394	40735471	22290049	1092	9931											
SERINC3	10955	broad.mit.edu	37	chr20	43138579	43138579	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttccattcgatttacccatGattcattccaagaatgagca	5	11	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:43138579G>A	uc002xme.2	-	5	700	c.566C>T	c.(565-567)TCA>TTA	p.S189L	SERINC3_uc002xmf.1_Missense_Mutation_p.S189L|SERINC3_uc010ggs.1_Missense_Mutation_p.S182L|SERINC3_uc010zwp.1_Missense_Mutation_p.S134L	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	189	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			ATTTACCCATGATTCATTCCA	0.458													A	43138579	G	A	43138579	3	1	11	1	0	0	0	0	1	0	0	0	14081	1294	45	4	879	4	SERINC3	20	43138579	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2403108	43138579	19886941	1093	9932											
ADA	100	broad.mit.edu	37	chr20	43248966	43248966	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggctgaaggtggcatcccaTaggctttatagagcaggtcg	14	8	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:43248966T>C	uc002xmj.2	-	11	1180	c.1052A>G	c.(1051-1053)TAT>TGT	p.Y351C	ADA_uc010ggt.2_RNA	NM_000022	NP_000013	P00813	ADA_HUMAN	adenosine deaminase	351					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			pancreas(2)|ovary(1)	3		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TGGCATCCCATAGGCTTTATA	0.537									Adenosine_Deaminase_Deficiency				C	43248966	T	C	43248966	3	2	11	1	0	0	0	0	1	0	0	0	230	1406	49	3	47	3	ADA	20	43248966	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	110387	43248966	19776554	1094	9933											
PREX1	57580	broad.mit.edu	37	chr20	47266542	47266542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacacaggtaccttgctccGggtcaaggccgatgagggag	14	11	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:47266542G>A	uc002xtw.1	-	24	3043	c.3020C>T	c.(3019-3021)CCG>CTG	p.P1007L	PREX1_uc002xtv.1_Missense_Mutation_p.P304L	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	1007					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ACCTTGCTCCGGGTCAAGGCC	0.448													A	47266542	G	A	47266542	3	1	11	1	0	0	0	0	1	0	0	0	12476	1116	39	1	2027	1	PREX1	20	47266542	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	4017576	47266542	15758978	1095	9934											
ZNFX1	57169	broad.mit.edu	37	chr20	47879934	47879934	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtacttctgcaggtactgTtcccgtaggacaccacgcat	9	12	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:47879934T>C	uc002xui.2	-	6	2485	c.2238A>G	c.(2236-2238)GAA>GAG	p.E746E		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	746							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCAGGTACTGTTCCCGTAGGA	0.522													C	47879934	T	C	47879934	2	2	11	1	0	0	0	0	0	0	0	1	18202	1722	60	3		3	ZNFX1	20	47879934	Silent	SNP	T	TCGA-BR-4256-01A-01D-1126-08	613392	47879934	15145586	1096	9935											
SPATA2	9825	broad.mit.edu	37	chr20	48523040	48523040	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacttctggagtgccactcGtgacatggaggccgtcaggt	14	11	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:48523040G>A	uc010gie.2	-	3	1029	c.679C>T	c.(679-681)CGA>TGA	p.R227*	SPATA2_uc002xuw.2_Nonsense_Mutation_p.R227*|SPATA2_uc010zyn.1_Nonsense_Mutation_p.R90*	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	227					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AGTGCCACTCGTGACATGGAG	0.672													A	48523040	G	A	48523040	4	1	11	1	0	0	0	0	0	1	0	0	15004	1153	40	1	887	1	SPATA2	20	48523040	Nonsense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	643106	48523040	14502480	1097	9936											
SNAI1	6615	broad.mit.edu	37	chr20	48600381	48600381	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtttaccttccagcagcccTacgaccaggcccacctgctg	8	17	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:48600381T>A	uc002xuz.2	+	2	173	c.103T>A	c.(103-105)TAC>AAC	p.Y35N		NM_005985	NP_005976	O95863	SNAI1_HUMAN	snail 1 homolog	35					epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CCAGCAGCCCTACGACCAGGC	0.582													A	48600381	T	A	48600381	3	1	11	1	0	0	0	0	1	0	0	0	14826	1522	53	5	109	5	SNAI1	20	48600381	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	77341	48600381	14425139	1098	9937											
FAM65C	140876	broad.mit.edu	37	chr20	49219090	49219090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcttaggctgggacccCggaggtcgctgtcagacagg	16	11	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:49219090C>T	uc002xvm.2	-	13	1484	c.1166G>A	c.(1165-1167)CGG>CAG	p.R389Q	FAM65C_uc010zyt.1_Missense_Mutation_p.R393Q|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.R389Q	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	389										ovary(2)	2						GCTGGGACCCCGGAGGTCGCT	0.637													T	49219090	C	T	49219090	3	4	11	1	0	0	0	0	1	0	0	0	5601	652	23	1	1714	1	FAM65C	20	49219090	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	618709	49219090	13806430	1099	9938											
NFATC2	4773	broad.mit.edu	37	chr20	50133334	50133334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccatacctgaaccacagGgtggcctccagttggagctt	11	12	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:50133334G>A	uc002xwd.2	-	3	1541	c.1321C>T	c.(1321-1323)CCT>TCT	p.P441S	NFATC2_uc002xwc.2_Missense_Mutation_p.P441S|NFATC2_uc010zyv.1_Missense_Mutation_p.P222S|NFATC2_uc010zyw.1_Missense_Mutation_p.P222S|NFATC2_uc010zyx.1_Missense_Mutation_p.P421S|NFATC2_uc010zyy.1_Missense_Mutation_p.P222S|NFATC2_uc010zyz.1_Missense_Mutation_p.P222S|NFATC2_uc002xwe.2_Missense_Mutation_p.P421S	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	441	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					TGAACCACAGGGTGGCCTCCA	0.532													A	50133334	G	A	50133334	3	1	11	1	0	0	0	0	1	0	0	0	10362	1232	43	4	1536	4	NFATC2	20	50133334	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	914244	50133334	12892186	1100	9939											
CDH26	60437	broad.mit.edu	37	chr20	58567530	58567530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaccgagaatcccctcatGtaaataacagtttttatgta	6	8	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:58567530G>A	uc002ybe.2	+	10	1681	c.1381G>A	c.(1381-1383)GTA>ATA	p.V461I	CDH26_uc002ybf.1_Missense_Mutation_p.V41I|CDH26_uc010zzy.1_RNA|CDH26_uc002ybg.2_5'Flank	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	461	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ATCCCCTCATGTAAATAACAG	0.428													A	58567530	G	A	58567530	3	1	11	1	0	0	0	0	1	0	0	0	3110	1377	48	4	1419	4	CDH26	20	58567530	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	8434196	58567530	4457990	1101	9940											
CDH4	1002	broad.mit.edu	37	chr20	60448951	60448951	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtggcggctggcctggacCgagaggtgaggcggggtggg	23	8	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:60448951C>T	uc002ybn.1	+	7	1059	c.1045C>T	c.(1045-1047)CGA>TGA	p.R349*	CDH4_uc002ybp.1_Nonsense_Mutation_p.R275*	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	349	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGGCCTGGACCGAGAGGTGAG	0.662													T	60448951	C	T	60448951	4	4	11	1	0	0	0	0	0	1	0	0	3112	644	23	1	1071	1	CDH4	20	60448951	Nonsense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1881421	60448951	2576569	1102	9941											
LAMA5	3911	broad.mit.edu	37	chr20	60888776	60888776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggttgagcagcccctctgCcccaggggccaccgtgtcac	12	17	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:60888776C>T	uc002ycq.2	-	63	8654	c.8587G>A	c.(8587-8589)GCA>ACA	p.A2863T		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2863	Laminin G-like 1.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCCCTCTGCCCCAGGGGCC	0.617													T	60888776	C	T	60888776	3	4	11	1	0	0	0	0	1	0	0	0	8609	739	26	2	2572	2	LAMA5	20	60888776	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	439825	60888776	2136744	1103	9942											
ZNF512B	57473	broad.mit.edu	37	chr20	62595544	62595544	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttggagcggtgaactcGggccttgtcctcagctttga	12	11	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:62595544G>A	uc002yhl.1	-	8	1414	c.1360C>T	c.(1360-1362)CGA>TGA	p.R454*		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGGTGAACTCGGGCCTTGTCC	0.657													A	62595544	G	A	62595544	4	1	11	1	0	0	0	0	0	1	0	0	17954	1124	39	1	1358	1	ZNF512B	20	62595544	Nonsense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1706768	62595544	429976	1104	9943											
LIPI	149998	broad.mit.edu	37	chr21	15561475	15561475	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actacaattacattcatatcTtcttcattcagcaaaatcct	1	11	5	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:15561475T>G	uc002yjm.2	-	2	385	c.375A>C	c.(373-375)GAA>GAC	p.E125D	LIPI_uc010gkw.1_Missense_Mutation_p.E58D	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	lipase, member I	104					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			ovary(2)	2				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CATTCATATCTTCTTCATTCA	0.393													G	15561475	T	G	15561475	3	3	11	1	0	0	0	0	1	0	0	0	8825	1606	56	5	1106	5	LIPI	21	15561475	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08		15561475	32568420	1105	9944											
NRIP1	8204	broad.mit.edu	37	chr21	16339438	16339438	+	Frame_Shift_Del	DEL	T	T	-													gtgagttcttataacctgcaTttttaggggaagaaggaatg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:16339437_16339437AT>A	uc021whl.1	-	0	1077	c.1077_1077AT>T	c.(1075-1077)aatfs	p.N359fs	NRIP1_uc002yjx.2_Frame_Shift_Del_p.N359fs	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	359					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TATAACCTGCATTTTTAGGGG	0.368													-	16339438	T	-	16339438	7	5	11	1	0	1	0	1	0	0	0	0	10652	1493	52	0	2404	0	NRIP1	21	16339438	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	777963	16339438	31790457	1106	9945											
TMPRSS15	5651	broad.mit.edu	37	chr21	19770545	19770545	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcaaaagcaagaacttTgaaatccactgagagtttgt	9	6	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:19770545T>C	uc002ykw.2	-	2	278	c.247A>G	c.(247-249)AAA>GAA	p.K83E		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	83	Extracellular (Potential).|SEA.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						GCAAGAACTTTGAAATCCACT	0.378													C	19770545	T	C	19770545	3	2	11	1	0	0	0	0	1	0	0	0	16243	1821	63	3	2908	3	TMPRSS15	21	19770545	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	3431107	19770545	28359350	1107	9946											
RNF160	26046	broad.mit.edu	37	chr21	30329691	30329691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcatcttttcccattcaCtgtcgttcggcattacactt	5	14	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:30329691C>T	uc002ymr.2	-	15	3006	c.2993G>A	c.(2992-2994)AGT>AAT	p.S998N		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	952							ligase activity|zinc ion binding				0						TTCCCATTCACTGTCGTTCGG	0.378													T	30329691	C	T	30329691	3	4	11	1	0	0	0	0	1	0	0	0	13455	565	20	4	2509	4	RNF160	21	30329691	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	10559146	30329691	17800204	1108	9947											
CLDN17	26285	broad.mit.edu	37	chr21	31538770	31538770	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccggaccctggcttgtcGgatgcaattcatccagagcc	10	14	1	1	rs148594408		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:31538770G>A	uc011acv.1	-	1	166	c.166C>T	c.(166-168)CGA>TGA	p.R56*		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	56	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2						CTGGCTTGTCGGATGCAATTC	0.547													A	31538770	G	A	31538770	4	1	11	1	0	0	0	0	0	1	0	0	3478	1124	39	1	512	1	CLDN17	21	31538770	Nonsense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1209079	31538770	16591125	1109	9948											
KRTAP19-1	337882	broad.mit.edu	37	chr21	31852407	31852407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctccattgtacgatgggCggcagcagccatatccatag	10	12	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:31852407C>T	uc011acx.1	-	1	230	c.230G>A	c.(229-231)CGC>CAC	p.R77H		NM_181607	NP_853638	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	77	26 X 2 AA repeats of G-[YCGS].					intermediate filament					0						GTACGATGGGCGGCAGCAGCC	0.488													T	31852407	C	T	31852407	3	4	11	1	0	0	0	0	1	0	0	0	8528	768	27	1	44	1	KRTAP19-1	21	31852407	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	313637	31852407	16277488	1110	9949											
IFNGR2	3460	broad.mit.edu	37	chr21	34809262	34809262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagaagatgttctccaaaCgctttgaaccaaagcatggg	10	9	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:34809262C>T	uc002yrp.3	+	7	1655	c.1007C>T	c.(1006-1008)ACG>ATG	p.T336M	IFNGR2_uc002yrq.3_Missense_Mutation_p.T355M|IFNGR2_uc010gma.2_Missense_Mutation_p.T257M|IFNGR2_uc002yrr.3_Missense_Mutation_p.T257M|TMEM50B_uc002yrs.1_Intron	NM_005534	NP_005525	P38484	INGR2_HUMAN	interferon gamma receptor 2 precursor	336	Cytoplasmic (Potential).				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity				0					Interferon gamma-1b(DB00033)	GTTCTCCAAACGCTTTGAACC	0.507													T	34809262	C	T	34809262	3	4	11	1	0	0	0	0	1	0	0	0	7550	536	19	1	1033	1	IFNGR2	21	34809262	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2956855	34809262	13320633	1111	9950											
RUNX1	861	broad.mit.edu	37	chr21	36171728	36171728	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtaggactgatcgtaggaCcacggtggggatggttggat	18	5	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:36171728C>T	uc002yuh.2	-	5	2334	c.756G>A	c.(754-756)TGG>TGA	p.W252*	RUNX1_uc002yui.2_Nonsense_Mutation_p.W188*|RUNX1_uc010gmu.2_Nonsense_Mutation_p.W279*|RUNX1_uc010gmv.2_Nonsense_Mutation_p.W279*|RUNX1_uc002yuj.3_Nonsense_Mutation_p.W147*|RUNX1_uc002yuk.3_Nonsense_Mutation_p.W279*|RUNX1_uc002yul.1_Nonsense_Mutation_p.W44*|RUNX1_uc002yum.1_Nonsense_Mutation_p.W83*	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	252	Pro/Ser/Thr-rich.			Missing: No DNA-binding.	myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						GATCGTAGGACCACGGTGGGG	0.478			T	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4	AML|preB- ALL|T-ALL				Platelet_disorder_associated_with_Myeloid_Malignancies				T	36171728	C	T	36171728	4	4	11	1	0	0	0	0	0	1	0	0	13746	508	18	4	613	4	RUNX1	21	36171728	Nonsense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1362466	36171728	11958167	1112	9951											
FAM3B	54097	broad.mit.edu	37	chr21	42694964	42694964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgctgcctatagcatccGcagcatcggggagaggcctg	14	12	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:42694964G>A	uc002yzb.1	+	2	280	c.134G>A	c.(133-135)CGC>CAC	p.R45H	FAM3B_uc002yza.2_RNA|FAM3B_uc002yzc.1_Intron|FAM3B_uc002yzd.1_Missense_Mutation_p.R68H|FAM3B_uc011aeq.1_Missense_Mutation_p.R59H	NM_058186	NP_478066	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	45					apoptosis|insulin secretion	extracellular space	cytokine activity				0		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				TATAGCATCCGCAGCATCGGG	0.597													A	42694964	G	A	42694964	3	1	11	1	0	0	0	0	1	0	0	0	5557	1087	38	1	140	1	FAM3B	21	42694964	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	6523236	42694964	5434931	1113	9952											
RIPK4	54101	broad.mit.edu	37	chr21	43161902	43161902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggagctccacgacacccCgcaccctcctctccacggcc	8	22	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:43161902C>T	uc002yzn.1	-	8	1499	c.1451G>A	c.(1450-1452)CGG>CAG	p.R484Q		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	484						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						CACGACACCCCGCACCCTCCT	0.637													T	43161902	C	T	43161902	3	4	11	1	0	0	0	0	1	0	0	0	13383	652	23	1	907	1	RIPK4	21	43161902	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	466938	43161902	4967993	1114	9953											
ZNF295	49854	broad.mit.edu	37	chr21	43411221	43411221	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggctccagaggctggatcTtgggcagtggtggtggcggt	19	8	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:43411221T>C	uc002zab.3	-	3	3198	c.2984A>G	c.(2983-2985)AAG>AGG	p.K995R	ZNF295_uc002yzz.3_Missense_Mutation_p.K794R|ZNF295_uc002yzy.3_Missense_Mutation_p.K995R|ZNF295_uc002zaa.3_Missense_Mutation_p.K995R	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	995					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						AGGCTGGATCTTGGGCAGTGG	0.562													C	43411221	T	C	43411221	3	2	11	1	0	0	0	0	1	0	0	0	17824	1609	56	3	220	3	ZNF295	21	43411221	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	249319	43411221	4718674	1115	9954											
UMODL1	89766	broad.mit.edu	37	chr21	43504209	43504209	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccagccctgaatcagtccgGgcagttcacgtcaagacctg	10	15	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:43504209G>T	uc002zaf.1	+	3	335	c.335G>T	c.(334-336)GGG>GTG	p.G112V	UMODL1_uc002zad.1_Missense_Mutation_p.G40V|UMODL1_uc002zae.1_Missense_Mutation_p.G40V|UMODL1_uc002zag.1_Missense_Mutation_p.G112V|UMODL1_uc010gow.1_5'Flank|UMODL1_uc002zai.1_5'Flank|UMODL1_uc010gox.1_5'Flank|UMODL1_uc010goy.1_5'Flank|UMODL1_uc002zaj.1_5'Flank|UMODL1_uc010goz.1_5'Flank	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	112	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						AATCAGTCCGGGCAGTTCACG	0.557													T	43504209	G	T	43504209	3	4	11	1	0	0	0	0	1	0	0	0	16977	1232	43	5	345	5	UMODL1	21	43504209	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	92988	43504209	4625686	1116	9955											
ITGB2	3689	broad.mit.edu	37	chr21	46326963	46326963	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctcatgagcagctgtggCcgggtgtcgcagcgaatgga	15	12	1	1	rs149429459	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:46326963C>T	uc002zgd.2	-	3	239	c.195G>A	c.(193-195)CGG>CGA	p.R65R	ITGB2_uc002zge.2_Silent_p.R65R|ITGB2_uc002zgf.3_Silent_p.R65R|ITGB2_uc011afl.1_5'UTR|ITGB2_uc010gpw.2_Silent_p.R65R|ITGB2_uc002zgg.2_Silent_p.R65R	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	65	Extracellular (Potential).				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCAGCTGTGGCCGGGTGTCGC	0.652													T	46326963	C	T	46326963	2	4	11	1	0	0	0	0	0	0	0	1	7894	726	26	2		2	ITGB2	21	46326963	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2822754	46326963	1802932	1117	9956											
MCM3AP	8888	broad.mit.edu	37	chr21	47680751	47680751	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacaaactccatcatcacGcgttccatcagctccacggc	5	18	4	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:47680751G>A	uc002zir.1	-	15	3573	c.3537C>T	c.(3535-3537)CGC>CGT	p.R1179R	MCM3AP_uc002zip.1_5'Flank|MCM3AP_uc002ziq.1_Silent_p.R106R	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	1179					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					CCATCATCACGCGTTCCATCA	0.522													A	47680751	G	A	47680751	2	1	11	1	0	0	0	0	0	0	0	1	9388	1074	38	1		1	MCM3AP	21	47680751	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1353788	47680751	449144	1118	9957											
CCT8L2	150160	broad.mit.edu	37	chr22	17073106	17073106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgttccagcaaggcttccGtcagcagaaccacgaaggct	10	14	1	1	rs147878859		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:17073106G>A	uc002zlp.1	-	1	595	c.335C>T	c.(334-336)ACG>ATG	p.T112M		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	112					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAAGGCTTCCGTCAGCAGAAC	0.667													A	17073106	G	A	17073106	3	1	11	1	0	0	0	0	1	0	0	0	2961	1145	40	1	1342	1	CCT8L2	22	17073106	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08		17073106	34231460	1119	9958											
SMARCB1	6598	broad.mit.edu	37	chr22	24135750	24135750	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgtctgttacagatcaCggatacacgactctagccac	8	11	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:24135750C>T	uc002zyb.2	+	3	444	c.237C>T	c.(235-237)CAC>CAT	p.H79H	SMARCB1_uc002zyg.2_Silent_p.H79H|SMARCB1_uc011ajb.1_Silent_p.H70H|SMARCB1_uc002zya.2_Silent_p.H79H|SMARCB1_uc002zyc.2_Silent_p.H70H|SMARCB1_uc002zyd.2_Silent_p.H70H|SMARCB1_uc002zye.1_Silent_p.H42H|SMARCB1_uc002zyf.1_RNA|SMARCB1_uc010gue.1_Intron	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	79					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TTACAGATCACGGATACACGA	0.537			D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis				T	24135750	C	T	24135750	2	4	11	1	0	0	0	0	0	0	0	1	14774	535	19	1		1	SMARCB1	22	24135750	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	7062644	24135750	27168816	1120	9959											
SMARCB1	6598	broad.mit.edu	37	chr22	24145518	24145518	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctgtgatccatgagaaCgcatctcagcccgaggtgct	11	13	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:24145518C>T	uc002zyb.2	+	5	744	c.537C>T	c.(535-537)AAC>AAT	p.N179N	SMARCB1_uc002zya.2_Silent_p.N179N|SMARCB1_uc002zyc.2_Silent_p.N170N|SMARCB1_uc002zyd.2_Silent_p.N188N|SMARCB1_uc002zye.1_Silent_p.N105N|SMARCB1_uc002zyf.1_RNA|SMARCB1_uc010gue.1_RNA	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	179	DNA-binding (Potential).				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(5)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TCCATGAGAACGCATCTCAGC	0.552			D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis				T	24145518	C	T	24145518	2	4	11	1	0	0	0	0	0	0	0	1	14774	535	19	1		1	SMARCB1	22	24145518	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	9768	24145518	27159048	1121	9960											
PIWIL3	440822	broad.mit.edu	37	chr22	25151789	25151789	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatagcgtaggcaatctggCgacgtgggcgtgagttcttt	14	7	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:25151789C>T	uc003abd.1	-	6	1071	c.654G>A	c.(652-654)TCG>TCA	p.S218S	PIWIL3_uc011ajx.1_Silent_p.S109S|PIWIL3_uc011ajy.1_Silent_p.S109S|PIWIL3_uc010gut.1_Silent_p.S218S	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	piwi-like 3	218					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4						GGCAATCTGGCGACGTGGGCG	0.403													T	25151789	C	T	25151789	2	4	11	1	0	0	0	0	0	0	0	1	11959	755	27	1		1	PIWIL3	22	25151789	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1006271	25151789	26152777	1122	9961											
SEZ6L	23544	broad.mit.edu	37	chr22	26776238	26776239	+	Frame_Shift_Del	DEL	AG	AG	-													tctctctcttgcaggaaaccAgagagtatgaggtttctatc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:26776237_26776238CAG>C	uc003acb.3	+	16	3247_3248	c.3051_3052CAG>C	c.(3049-3054)accagafs	p.T1017fs	SEZ6L_uc003acd.3_Frame_Shift_Del_p.T942fs|SEZ6L_uc011akd.2_Frame_Shift_Del_p.T1004fs|SEZ6L_uc003ace.3_Frame_Shift_Del_p.T941fs|SEZ6L_uc011akc.2_Frame_Shift_Del_p.T1006fs|SEZ6L_uc003acc.3_Frame_Shift_Del_p.T1016fs|SEZ6L_uc011ake.2_Non-coding_Transcript	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	1017						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGCAGGAAACCAGAGAGTATGA	0.465													-	26776239	AG	-	26776238	7	5	11	1	0	1	0	1	0	0	0	0	14143	180	7	0	3118	0	SEZ6L	22	26776238	Frame_Shift_Del	DEL	AG	TCGA-BR-4256-01A-01D-1126-08	1624449	26776238	24528328	1123	9962											
MN1	4330	broad.mit.edu	37	chr22	28193441	28193441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actactgtccgacttggcccCgccgtccagggacccaatga	10	16	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:28193441C>T	uc003adj.2	-	1	4046	c.3091G>A	c.(3091-3093)GGG>AGG	p.G1031R		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	1031							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						GACTTGGCCCCGCCGTCCAGG	0.647			T	ETV6	AML|meningioma								T	28193441	C	T	28193441	3	4	11	1	0	0	0	0	1	0	0	0	9673	652	23	1	879	1	MN1	22	28193441	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1417203	28193441	23111125	1124	9963											
MTMR3	8897	broad.mit.edu	37	chr22	30418067	30418067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatcagaactgtttgtctcGctgcagcacagagattttct	10	9	3	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:30418067G>A	uc003agv.3	+	18	3603	c.3275G>A	c.(3274-3276)CGC>CAC	p.R1092H	MTMR3_uc003agu.3_Intron|MTMR3_uc003agw.3_Intron	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	1092					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGTTTGTCTCGCTGCAGCACA	0.498													A	30418067	G	A	30418067	3	1	11	1	0	0	0	0	1	0	0	0	9945	1087	38	1	3337	1	MTMR3	22	30418067	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2224626	30418067	20886499	1125	9964											
SMTN	6525	broad.mit.edu	37	chr22	31495882	31495882	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggccttctcatctgcggAgtaagtgtgggccctggccc	15	12	2	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:31495882A>G	uc003ajl.1	+	19	2821	c.2603A>G	c.(2602-2604)GAG>GGG	p.E868G	SMTN_uc003ajk.1_Missense_Mutation_p.E868G|SMTN_uc003ajm.1_Missense_Mutation_p.E868G|SMTN_uc011ale.1_Missense_Mutation_p.E953G|SMTN_uc011alf.1_Missense_Mutation_p.E924G|SMTN_uc003ajn.1_Missense_Mutation_p.E891G|SMTN_uc011alg.1_Missense_Mutation_p.E324G|SMTN_uc003ajo.1_Missense_Mutation_p.E391G|SMTN_uc010gwe.1_Missense_Mutation_p.E248G|SMTN_uc003ajp.1_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	868	CH.				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						TCATCTGCGGAGTAAGTGTGG	0.617													G	31495882	A	G	31495882	3	3	11	1	0	0	0	0	1	0	0	0	14814	318	11	3	2673	3	SMTN	22	31495882	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	1077815	31495882	19808684	1126	9965											
TMPRSS6	164656	broad.mit.edu	37	chr22	37499436	37499436	+	Frame_Shift_Del	DEL	G	G	-													cccctgcccgccagccacctGgggggcctcggccacgggca							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:37499435_37499435TG>T	uc003aqt.1	-	1	85	c.23_23CA>A	c.(22-24)cagfs	p.Q8fs	TMPRSS6_uc003aqs.1_Frame_Shift_Del_p.Q17fs|TMPRSS6_uc003aqu.3_Frame_Shift_Del_p.Q8fs	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	17					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GCCAGCCACCTGGGGGGCCTC	0.657													-	37499436	G	-	37499436	7	5	11	1	0	1	0	1	0	0	0	0	16248	1357	47	0	2454	0	TMPRSS6	22	37499436	Frame_Shift_Del	DEL	G	TCGA-BR-4256-01A-01D-1126-08	6003554	37499436	13805130	1127	9966											
C1QTNF6	114904	broad.mit.edu	37	chr22	37578581	37578581	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccctttcgaagagcagcgTctggaagtcctcgccgctgt	12	13	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:37578581T>C	uc003aqw.1	-	2	932	c.427A>G	c.(427-429)ACG>GCG	p.T143A	C1QTNF6_uc003aqx.1_Missense_Mutation_p.T162A|C1QTNF6_uc003aqy.1_Missense_Mutation_p.T162A|C1QTNF6_uc003aqz.1_RNA	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	143	C1q.					collagen					0						AAGAGCAGCGTCTGGAAGTCC	0.627													C	37578581	T	C	37578581	3	2	11	1	0	0	0	0	1	0	0	0	1967	1667	58	3	356	3	C1QTNF6	22	37578581	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	79145	37578581	13725985	1128	9967											
TRIOBP	11078	broad.mit.edu	37	chr22	38119208	38119208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagacaccggcggtgggggCcggagcgcaggacagcactg	18	13	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:38119208C>T	uc003atr.2	+	7	916	c.645C>T	c.(643-645)GGC>GGT	p.G215G	TRIOBP_uc003atu.2_Silent_p.G43G|TRIOBP_uc003atq.1_Silent_p.G215G|TRIOBP_uc003ats.1_Silent_p.G43G	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	215					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					GCGGTGGGGGCCGGAGCGCAG	0.617													T	38119208	C	T	38119208	2	4	11	1	0	0	0	0	0	0	0	1	16550	726	26	2		2	TRIOBP	22	38119208	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	540627	38119208	13185358	1129	9968											
TRIOBP	11078	broad.mit.edu	37	chr22	38122069	38122069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtgtgcattgggcaccGggatgcaccctccttctcat	10	15	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:38122069G>A	uc003atr.2	+	7	3777	c.3506G>A	c.(3505-3507)CGG>CAG	p.R1169Q	TRIOBP_uc003atu.2_Missense_Mutation_p.R997Q|TRIOBP_uc003atq.1_Missense_Mutation_p.R1169Q|TRIOBP_uc003ats.1_Missense_Mutation_p.R997Q	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	1169					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					ATTGGGCACCGGGATGCACCC	0.637													A	38122069	G	A	38122069	3	1	11	1	0	0	0	0	1	0	0	0	16550	1116	39	1	3524	1	TRIOBP	22	38122069	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2861	38122069	13182497	1130	9969											
GCAT	23464	broad.mit.edu	37	chr22	38211178	38211178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgatggggccttttccatgGatggcgacatcgcacccctg	12	13	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:38211178G>A	uc003atz.2	+	5	642	c.622G>A	c.(622-624)GAT>AAT	p.D208N	GCAT_uc003aua.1_Missense_Mutation_p.D234N	NM_014291	NP_055106	O75600	KBL_HUMAN	glycine C-acetyltransferase precursor	208					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups				0	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTTTTCCATGGATGGCGACAT	0.597													A	38211178	G	A	38211178	3	1	11	1	0	0	0	0	1	0	0	0	6284	1174	41	4	718	4	GCAT	22	38211178	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	89109	38211178	13093388	1131	9970											
MCHR1	2847	broad.mit.edu	37	chr22	41076969	41076969	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggatcacctcctcgcacGgggagcatctcctacatcaa	8	16	3	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:41076969G>A	uc003ayz.2	+	2	574	c.306G>A	c.(304-306)ACG>ACA	p.T102T	MCHR1_uc003aza.2_5'UTR	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	G protein-coupled receptor 24	102	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity				0						CTCCTCGCACGGGGAGCATCT	0.572													A	41076969	G	A	41076969	2	1	11	1	0	0	0	0	0	0	0	1	9382	1103	39	1		1	MCHR1	22	41076969	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2865791	41076969	10227597	1132	9971											
EP300	2033	broad.mit.edu	37	chr22	41527639	41527639	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcccatgagcaacatgagTaagtttgtgtcatcctaata	9	9	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:41527639T>C	uc003azl.3	+	6	1923	c.1528_splice	c.e6+2	p.S510_splice		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300						apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						GCAACATGAGTAAGTTTGTGT	0.438			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				C	41527639	T	C	41527639	5	2	11	1	0	0	0	0	0	0	1	0	5148	1652	57	3	1552	3	EP300	22	41527639	Splice_Site	SNP	T	TCGA-BR-4256-01A-01D-1126-08	450670	41527639	9776927	1133	9972											
SREBF2	6721	broad.mit.edu	37	chr22	42276824	42276824	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcagcctctcctggaaCgtgatccgctacagcctgca	10	16	1	1	rs141892188		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:42276824C>T	uc003bbi.2	+	10	2035	c.1866C>T	c.(1864-1866)AAC>AAT	p.N622N	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	622	Cytoplasmic (Potential).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4						TCTCCTGGAACGTGATCCGCT	0.642													T	42276824	C	T	42276824	2	4	11	1	0	0	0	0	0	0	0	1	15141	535	19	1		1	SREBF2	22	42276824	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	749185	42276824	9027742	1134	9973											
EFCAB6	64800	broad.mit.edu	37	chr22	44028036	44028036	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcttcaggcattcttctgcGgtgataaagtggctgttcac	11	9	4	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:44028036G>T	uc003bdy.1	-	19	2396	c.2181C>A	c.(2179-2181)ACC>ACA	p.T727T	EFCAB6_uc003bdz.1_Silent_p.T575T|EFCAB6_uc010gzi.1_Silent_p.T575T|EFCAB6_uc010gzj.1_Silent_p.T25T|EFCAB6_uc010gzk.1_RNA	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	727					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				ATTCTTCTGCGGTGATAAAGT	0.537													T	44028036	G	T	44028036	2	4	11	1	0	0	0	0	0	0	0	1	4939	1103	39	5		5	EFCAB6	22	44028036	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1751212	44028036	7276530	1135	9974											
ALG12	79087	broad.mit.edu	37	chr22	50301525	50301525	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctaccaagcccagggggAtgaagagcaggctgcagccc	14	12	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:50301525A>G	uc003biy.2	-	7	1110	c.836T>C	c.(835-837)ATC>ACC	p.I279T		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	alpha-1,6-mannosyltransferase ALG12	279	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane					0		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GCCCAGGGGGATGAAGAGCAG	0.652													G	50301525	A	G	50301525	3	3	11	1	0	0	0	0	1	0	0	0	514	333	12	3	646	3	ALG12	22	50301525	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	6273489	50301525	1003041	1136	9975											
CPT1B	1375	broad.mit.edu	37	chr22	51015369	51015369	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagaagcagcttcagggtttGgcggaagaagaagatgcccg	16	7	1	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:51015369G>C	uc003bmk.3	-	3	538	c.376C>G	c.(376-378)CAA>GAA	p.Q126E	CPT1B_uc003bml.2_Missense_Mutation_p.Q126E|CPT1B_uc003bmm.2_Missense_Mutation_p.Q126E|CPT1B_uc003bmo.2_Missense_Mutation_p.Q126E|CPT1B_uc011asa.1_Missense_Mutation_p.Q126E|CPT1B_uc003bmn.2_Missense_Mutation_p.Q126E|CPT1B_uc011asb.1_Missense_Mutation_p.Q126E|CHKB-CPT1B_uc003bmp.2_5'UTR	NM_001145137	NP_001138609	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B isoform a	126	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)	2		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TTCAGGGTTTGGCGGAAGAAG	0.587											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	51015369	G	C	51015369	3	2	11	1	0	0	0	0	1	0	0	0	3832	1357	47	5	2006	5	CPT1B	22	51015369	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	713844	51015369	289197	1137	9976											
CSF2RA	1438	broad.mit.edu	37	chrX	1401634	1401634	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagccttctgctctgtgagtTaccacacccagcattcctcc	6	16	2	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:1401634T>C	uc010nct.2	+	4	360	c.38T>C	c.(37-39)TTA>TCA	p.L13S	CSF2RA_uc011mhb.1_Missense_Mutation_p.L13S|CSF2RA_uc004cpq.2_Missense_Mutation_p.L13S|CSF2RA_uc004cpn.2_Missense_Mutation_p.L13S|CSF2RA_uc004cpo.2_Missense_Mutation_p.L13S|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Missense_Mutation_p.L13S|CSF2RA_uc010ncv.2_Missense_Mutation_p.L13S|CSF2RA_uc004cpr.2_Missense_Mutation_p.L13S	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	13						extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTCTGTGAGTTACCACACCCA	0.522													C	1401634	T	C	1401634	3	2	11	1	0	0	0	0	1	0	0	0	3934	1764	61	3	40	3	CSF2RA	23	1401634	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08		1401634	153868926	1138	9977											
TLR8	51311	broad.mit.edu	37	chrX	12939191	12939191	+	Frame_Shift_Del	DEL	T	T	-													taaatgataatatgttaaagTtttttaactggacattactc							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:12939190_12939190GT>G	uc004cvd.3	+	2	2255	c.2085_2085GT>G	c.(2083-2085)aagfs	p.K695fs	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Frame_Shift_Del_p.K677fs	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	677					I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ATATGTTAAAGTTTTTTAACT	0.368													-	12939191	T	-	12939191	7	5	11	1	0	1	0	1	0	0	0	0	15954	1725	60	0	2038	0	TLR8	23	12939191	Frame_Shift_Del	DEL	T	TCGA-BR-4256-01A-01D-1126-08	11537557	12939191	142331369	1139	9978											
ZRSR2	8233	broad.mit.edu	37	chrX	15822297	15822297	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaagaggaggagcagaaaCgacaggagaagaaagaaaaa	15	3	0	6			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:15822297C>T	uc004cxg.3	+	5	421	c.376C>T	c.(376-378)CGA>TGA	p.R126*		NM_005089	NP_005080	Q15696	U2AFM_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 2	126					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)	3	Hepatocellular(33;0.183)					ggagcagaaacgacaggagaa	0.209													T	15822297	C	T	15822297	4	4	11	1	0	0	0	0	0	1	0	0	18222	528	19	1	394	1	ZRSR2	23	15822297	Nonsense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2883106	15822297	139448263	1140	9979											
USP9X	8239	broad.mit.edu	37	chrX	41029259	41029259	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccccccagagcattccgcgGtaaacacctctcttttgtag	7	15	1	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:41029259G>C	uc004dfb.2	+	19	3281	c.2648G>C	c.(2647-2649)GGT>GCT	p.G883A	USP9X_uc004dfc.2_Missense_Mutation_p.G883A	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	883					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						GCATTCCGCGGTAAACACCTC	0.413													C	41029259	G	C	41029259	3	2	11	1	0	0	0	0	1	0	0	0	17087	1261	44	5	2718	5	USP9X	23	41029259	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	25206962	41029259	114241301	1141	9980											
DUSP21	63904	broad.mit.edu	37	chrX	44703423	44703423	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcatctcagggtgtccaGcagccctccatctacagctt	7	15	4	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:44703423G>A	uc004dgd.2	+	1	175	c.45G>A	c.(43-45)CAG>CAA	p.Q15Q		NM_022076	NP_071359	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	15						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)	2						AGGGTGTCCAGCAGCCCTCCA	0.537													A	44703423	G	A	44703423	2	1	11	1	0	0	0	0	0	0	0	1	4820	962	34	2		2	DUSP21	23	44703423	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3674164	44703423	110567137	1142	9981											
ARAF	369	broad.mit.edu	37	chrX	47424708	47424708	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agacagcatgaggctccctcGaaccgccccctgaatgagtt	10	14	0	4	rs56202823		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:47424708G>A	uc011mlq.1	+	6	649	c.516G>A	c.(514-516)TCG>TCA	p.S172S	ARAF_uc011mln.1_RNA|ARAF_uc011mlo.1_Silent_p.S38S|ARAF_uc011mlp.1_Silent_p.S172S|ARAF_uc004dic.1_5'UTR	NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	172					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	AGGCTCCCTCGAACCGCCCCC	0.572													A	47424708	G	A	47424708	2	1	11	1	0	0	0	0	0	0	0	1	837	1045	37	1		1	ARAF	23	47424708	Silent	SNP	G	TCGA-BR-4256-01A-01D-1126-08	2721285	47424708	107845852	1143	9982											
PPP1R3F	89801	broad.mit.edu	37	chrX	49143388	49143388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagaagtctcccaccctaGcagtccctgcagaatgtgtg	9	13	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:49143388G>A	uc004dnh.1	+	4	2252	c.2236G>A	c.(2236-2238)GCA>ACA	p.A746T	PPP1R3F_uc011mnd.1_Missense_Mutation_p.A417T|PPP1R3F_uc004dni.2_Missense_Mutation_p.A400T|PPP1R3F_uc004dnj.1_Missense_Mutation_p.A400T	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	746	Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)					TCCCACCCTAGCAGTCCCTGC	0.612													A	49143388	G	A	49143388	3	1	11	1	0	0	0	0	1	0	0	0	12375	971	34	2	2250	2	PPP1R3F	23	49143388	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	1718680	49143388	106127172	1144	9983											
HEPH	9843	broad.mit.edu	37	chrX	65418738	65418741	+	Frame_Shift_Del	DEL	TTCT	TTCT	-													agaaaggggtggataaagaaTtctttcttctcttcactgtg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:65418737_65418740ATTCT>A	uc011moz.2	+	10	2030_2033	c.1893_1896ATTCT>A	c.(1891-1896)gaattcfs	p.E631fs	HEPH_uc004dwn.3_Frame_Shift_Del_p.E580fs|HEPH_uc004dwo.3_Frame_Shift_Del_p.E310fs|HEPH_uc010nkr.3_Intron|HEPH_uc011mpa.2_Frame_Shift_Del_p.E580fs	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	577	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.P632S(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGGATAAAGAATTCTTTCTTCTCT	0.426													-	65418741	TTCT	-	65418738	7	5	11	1	0	1	0	1	0	0	0	0	7054	1493	52	0	1936	0	HEPH	23	65418738	Frame_Shift_Del	DEL	TTCT	TCGA-BR-4256-01A-01D-1126-08	16275350	65418738	89851822	1145	9984											
ZDHHC15	158866	broad.mit.edu	37	chrX	74651314	74651314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagagcagtggtggcagcGgtctggcttgatcagatgac	16	8	2	4			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:74651314G>A	uc004ecg.2	-	5	899	c.421C>T	c.(421-423)CGC>TGC	p.R141C	ZDHHC15_uc004ech.2_Missense_Mutation_p.R132C|ZDHHC15_uc011mqo.1_RNA	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15 isoform 1	141	DHHC-type.					integral to membrane	zinc ion binding			ovary(2)	2						TGGTGGCAGCGGTCTGGCTTG	0.453													A	74651314	G	A	74651314	3	1	11	1	0	0	0	0	1	0	0	0	17602	1116	39	1	620	1	ZDHHC15	23	74651314	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	9232576	74651314	80619246	1146	9985											
HDX	139324	broad.mit.edu	37	chrX	83616610	83616610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggtcactgaactgagtgCggtcctgtagctgaaaaaca	11	10	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:83616610C>T	uc004eek.1	-	5	1425	c.1316G>A	c.(1315-1317)CGC>CAC	p.R439H	HDX_uc011mqv.1_Missense_Mutation_p.R439H|HDX_uc004eel.1_Missense_Mutation_p.R381H	NM_144657	NP_653258	Q7Z353	HDX_HUMAN	highly divergent homeobox	439	Homeobox 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)	2						GAACTGAGTGCGGTCCTGTAG	0.378													T	83616610	C	T	83616610	3	4	11	1	0	0	0	0	1	0	0	0	7026	768	27	1	780	1	HDX	23	83616610	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	8965296	83616610	71653950	1147	9986											
KLHL4	56062	broad.mit.edu	37	chrX	86919768	86919768	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttctaaatcctttaaggtatGatccaaaaggtgattcatgg	8	6	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:86919768G>T	uc004efb.2	+	10	2112	c.1930G>T	c.(1930-1932)GAT>TAT	p.D644Y	KLHL4_uc004efa.2_Missense_Mutation_p.D644Y	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	644	Kelch 5.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						TTTAAGGTATGATCCAAAAGG	0.403													T	86919768	G	T	86919768	3	4	11	1	0	0	0	0	1	0	0	0	8391	1290	45	5	1968	5	KLHL4	23	86919768	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	3303158	86919768	68350792	1148	9987											
PCDH11X	27328	broad.mit.edu	37	chrX	91132491	91132491	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattcagtaatcagttcctcCtggagactgcagcatatctt	7	10	3	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:91132491C>A	uc004efk.1	+	2	2097	c.1252C>A	c.(1252-1254)CTG>ATG	p.L418M	PCDH11X_uc004efl.1_Missense_Mutation_p.L418M|PCDH11X_uc004efo.1_Missense_Mutation_p.L418M|PCDH11X_uc010nmv.1_Missense_Mutation_p.L418M|PCDH11X_uc004efm.1_Missense_Mutation_p.L418M|PCDH11X_uc004efn.1_Missense_Mutation_p.L418M|PCDH11X_uc004efh.1_Missense_Mutation_p.L418M|PCDH11X_uc004efj.1_Missense_Mutation_p.L418M	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	418	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						TCAGTTCCTCCTGGAGACTGC	0.438													A	91132491	C	A	91132491	3	1	11	1	0	0	0	0	1	0	0	0	11508	680	24	5	1258	5	PCDH11X	23	91132491	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	4212723	91132491	64138069	1149	9988											
ZMAT1	84460	broad.mit.edu	37	chrX	101139336	101139336	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcctcatgtgaaaatcTttgctcacacattcttgatc	7	10	4	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:101139336T>A	uc004eim.2	-	2	4048	c.550A>T	c.(550-552)AGA>TGA	p.R184*	ZMAT1_uc011mrl.1_Nonsense_Mutation_p.R355*|ZMAT1_uc004ein.2_Nonsense_Mutation_p.R184*|ZMAT1_uc011mrm.1_Nonsense_Mutation_p.R184*	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 3	184						nucleus	zinc ion binding			ovary(1)	1						TGTGAAAATCTTTGCTCACAC	0.448													A	101139336	T	A	101139336	4	1	11	1	0	0	0	0	0	1	0	0	17688	1617	56	5	857	5	ZMAT1	23	101139336	Nonsense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	10006845	101139336	54131224	1150	9989											
GPRASP1	9737	broad.mit.edu	37	chrX	101911911	101911911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctagccccgtgttcaggGccatttgcaggtccacgtgt	11	13	1	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:101911911G>A	uc004ejj.3	+	5	3871	c.3070G>A	c.(3070-3072)GCC>ACC	p.A1024T	GPRASP1_uc004eji.3_Missense_Mutation_p.A1024T|GPRASP1_uc010nod.2_Missense_Mutation_p.A1024T	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	1024	OPRD1-binding.					cytoplasm	protein binding			ovary(1)|lung(1)	2						CGTGTTCAGGGCCATTTGCAG	0.542													A	101911911	G	A	101911911	3	1	11	1	0	0	0	0	1	0	0	0	6722	1203	42	2	3072	2	GPRASP1	23	101911911	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	772575	101911911	53358649	1151	9990											
MORC4	79710	broad.mit.edu	37	chrX	106185215	106185215	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cggtaggagacctgagccttCtgcagcatttccaggtgtgt	13	10	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:106185215C>T	uc004emu.3	-	16	2856	c.2613G>A	c.(2611-2613)CAG>CAA	p.Q871Q	MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Silent_p.Q871Q|MORC4_uc004emw.3_Silent_p.Q619Q	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	871	Potential.						ATP binding|zinc ion binding			ovary(1)	1						CCTGAGCCTTCTGCAGCATTT	0.453													T	106185215	C	T	106185215	2	4	11	1	0	0	0	0	0	0	0	1	9704	912	32	4		4	MORC4	23	106185215	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	4273304	106185215	49085345	1152	9991											
CHRDL1	91851	broad.mit.edu	37	chrX	109931837	109931837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaccttttgcttttttacCtggacacaccttgcagcatt	6	13	0	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:109931837C>T	uc004eou.3	-	9	1322	c.973G>A	c.(973-975)GGT>AGT	p.G325S	CHRDL1_uc004eov.2_Missense_Mutation_p.E319K|CHRDL1_uc004eow.2_Missense_Mutation_p.G324S|CHRDL1_uc010nps.2_Missense_Mutation_p.G324S|CHRDL1_uc004eot.2_Missense_Mutation_p.G245S|CHRDL1_uc011mss.1_Missense_Mutation_p.G239S	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	318					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0						GCTTTTTTACCTGGACACACC	0.428													T	109931837	C	T	109931837	3	4	11	1	0	0	0	0	1	0	0	0	3373	681	24	4	419	4	CHRDL1	23	109931837	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	3746622	109931837	45338723	1153	9992											
CHRDL1	91851	broad.mit.edu	37	chrX	110005996	110005996	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatgccatctctcacccactCtgtacttcttgtcttgaaac	5	14	5	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:110005996C>T	uc004eou.3	-	3	483	c.134G>A	c.(133-135)AGA>AAA	p.R45K	CHRDL1_uc004eov.2_Missense_Mutation_p.R39K|CHRDL1_uc004eow.2_Missense_Mutation_p.R45K|CHRDL1_uc010nps.2_Missense_Mutation_p.R45K|CHRDL1_uc004eot.2_Missense_Mutation_p.R45K|CHRDL1_uc011mss.1_Missense_Mutation_p.R39K|CHRDL1_uc004eox.3_Missense_Mutation_p.R39K	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	39	VWFC 1.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0						CTCACCCACTCTGTACTTCTT	0.423													T	110005996	C	T	110005996	3	4	11	1	0	0	0	0	1	0	0	0	3373	913	32	4	1282	4	CHRDL1	23	110005996	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	74159	110005996	45264564	1154	9993											
HTR2C	3358	broad.mit.edu	37	chrX	114141456	114141456	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccctaaccaagaccagaaCgcacgccgaagaaagaagaa	8	12	0	5			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:114141456C>T	uc004epu.1	+	6	1583	c.855C>T	c.(853-855)AAC>AAT	p.N285N	HTR2C_uc010nqc.1_Silent_p.N285N|HTR2C_uc004epv.1_3'UTR	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	285	Cytoplasmic (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	AAGACCAGAACGCACGCCGAA	0.498													T	114141456	C	T	114141456	2	4	11	1	0	0	0	0	0	0	0	1	7443	535	19	1		1	HTR2C	23	114141456	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	4135460	114141456	41129104	1155	9994											
SLC6A14	11254	broad.mit.edu	37	chrX	115582770	115582771	+	Frame_Shift_Ins	INS	-	-	T													gtgtttgctggatttgctatINStttttctatattgggacaca							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:115582769_115582770A>AT	uc004eqi.3	+	7	1224_1225	c.1093_1094A>AT	c.(1093-1095)attfs	p.I365fs		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	365					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TGGATTTGCTATTTTTTCTATA	0.332													T	115582771	-	T	115582770	7	5	11	1	0	1	1	0	0	0	0	0	14677	1493	52	0	1124	0	SLC6A14	23	115582770	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	1441314	115582770	39687790	1156	9995											
ZCCHC12	170261	broad.mit.edu	37	chrX	117960020	117960020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatagatgataccctcgaCgactccgatgaggatgtgat	12	8	0	5			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:117960020C>T	uc004equ.2	+	4	1286	c.813C>T	c.(811-813)GAC>GAT	p.D271D		NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			ovary(1)	1						ATACCCTCGACGACTCCGATG	0.582													T	117960020	C	T	117960020	2	4	11	1	0	0	0	0	0	0	0	1	17578	535	19	1		1	ZCCHC12	23	117960020	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	2377250	117960020	37310540	1157	9996											
OCRL	4952	broad.mit.edu	37	chrX	128724180	128724180	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaccttatggcaagacagaCtccaagtgaccgccagcgtg	10	13	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:128724180C>A	uc004euq.2	+	24	2804	c.2639C>A	c.(2638-2640)ACT>AAT	p.T880N	OCRL_uc004eur.2_Missense_Mutation_p.T872N|OCRL_uc010nrb.2_RNA	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	880	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			lung(2)|ovary(1)|kidney(1)	4						GCAAGACAGACTCCAAGTGAC	0.483													A	128724180	C	A	128724180	3	1	11	1	0	0	0	0	1	0	0	0	10823	565	20	5	2733	5	OCRL	23	128724180	Missense_Mutation	SNP	C	TCGA-BR-4256-01A-01D-1126-08	10764160	128724180	26546380	1158	9997											
RBMX2	51634	broad.mit.edu	37	chrX	129546425	129546425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctcttcgtcacccagacGcaagacagtaaaggaaaagg	9	11	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:129546425G>A	uc004evt.2	+	6	636	c.572G>A	c.(571-573)CGC>CAC	p.R191H		NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	191	Lys-rich.						nucleotide binding|RNA binding			breast(3)|ovary(1)	4						TCACCCAGACGCAAGACAGTA	0.453													A	129546425	G	A	129546425	3	1	11	1	0	0	0	0	1	0	0	0	13152	1087	38	1	594	1	RBMX2	23	129546425	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	822245	129546425	25724135	1159	9998											
IGSF1	3547	broad.mit.edu	37	chrX	130408789	130408789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcggcactgaagggtgaTgtccttccctaacttgaaca	9	12	0	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:130408789T>C	uc004ewd.2	-	18	3773	c.3535A>G	c.(3535-3537)ATC>GTC	p.I1179V	IGSF1_uc004ewe.3_Missense_Mutation_p.I1173V|IGSF1_uc004ewf.2_Missense_Mutation_p.I1159V	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	1179	Extracellular (Potential).|Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						TGAAGGGTGATGTCCTTCCCT	0.493													C	130408789	T	C	130408789	3	2	11	1	0	0	0	0	1	0	0	0	7596	1464	51	3	487	3	IGSF1	23	130408789	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	862364	130408789	24861771	1160	9999											
USP26	83844	broad.mit.edu	37	chrX	132160788	132160789	+	Frame_Shift_Ins	INS	-	-	A													actcaagctcttctgctccaINSaaaaaaagatcaaaagtaga							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:132160787_132160788C>CA	uc011mvf.2	-	0	1513_1514	c.1461_1462G>TG	c.(1459-1464)tttggafs	p.F487fs	USP26_uc010nrm.1_Frame_Shift_Ins_p.F487fs	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	487					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.G488fs*6(4)|p.F487fs*7(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCTTCTGCTCCAAAAAAAAGAT	0.381													A	132160789	-	A	132160788	7	5	11	1	0	1	1	0	0	0	0	0	17054	127	5	0	1283	0	USP26	23	132160788	Frame_Shift_Ins	INS	-	TCGA-BR-4256-01A-01D-1126-08	1751999	132160788	23109772	1161	10000											
SAGE1	55511	broad.mit.edu	37	chrX	134988609	134988609	+	Frame_Shift_Del	DEL	A	A	-													tgtctgtgaacagaagatggAaaatgtccaaccagcacctg							TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:134988608_134988608GA>G	uc004ezh.3	+	6	801	c.634_634GA>G	c.(634-636)gaafs	p.E212fs	SAGE1_uc010nry.1_Frame_Shift_Del_p.E181fs|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	212								p.E212G(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ACAGAAGATGGAAAATGTCCA	0.448													-	134988609	A	-	134988609	7	5	11	1	0	1	0	1	0	0	0	0	13809	246	9	0	657	0	SAGE1	23	134988609	Frame_Shift_Del	DEL	A	TCGA-BR-4256-01A-01D-1126-08	2827821	134988609	20281951	1162	10001											
MAGEC1	9947	broad.mit.edu	37	chrX	140995387	140995387	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcagtttcctcctcagGgggaggacttccagtcttct	9	13	4	0			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:140995387G>T	uc004fbt.2	+	4	2483	c.2197G>T	c.(2197-2199)GGG>TGG	p.G733W	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	733							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCCTCAGGGGGAGGACTT	0.547										HNSCC(15;0.026)			T	140995387	G	T	140995387	3	4	11	1	0	0	0	0	1	0	0	0	9180	1232	43	5	2203	5	MAGEC1	23	140995387	Missense_Mutation	SNP	G	TCGA-BR-4256-01A-01D-1126-08	6006778	140995387	14275173	1163	10002											
SLITRK2	84631	broad.mit.edu	37	chrX	144904763	144904763	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgccagtgattccagtcagAggggcagccatgctgacacc	13	12	1	3			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:144904763A>G	uc004fcd.2	+	5	1810	c.820A>G	c.(820-822)AGG>GGG	p.R274G	SLITRK2_uc010nsp.2_Missense_Mutation_p.R274G|SLITRK2_uc010nso.2_Missense_Mutation_p.R274G|SLITRK2_uc011mwq.1_Missense_Mutation_p.R274G|SLITRK2_uc011mwr.1_Missense_Mutation_p.R274G|SLITRK2_uc011mws.1_Missense_Mutation_p.R274G|SLITRK2_uc004fcg.2_Missense_Mutation_p.R274G|SLITRK2_uc011mwt.1_Missense_Mutation_p.R274G	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	274	Extracellular (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAGTCAGAGGGGCAGCCA	0.557													G	144904763	A	G	144904763	3	3	11	1	0	0	0	0	1	0	0	0	14743	295	11	3	822	3	SLITRK2	23	144904763	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08	3909376	144904763	10365797	1164	10003											
GABRA3	2556	broad.mit.edu	37	chrX	151376568	151376568	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgccacttccacggatttgTtctttccgagagtccaagaa	9	11	1	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:151376568T>G	uc010ntk.1	-	7	923	c.683A>C	c.(682-684)AAC>ACC	p.N228T		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	228	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CACGGATTTGTTCTTTCCGAG	0.438													G	151376568	T	G	151376568	3	3	11	1	0	0	0	0	1	0	0	0	6162	1725	60	5	811	5	GABRA3	23	151376568	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	6471805	151376568	3893992	1165	10004											
NSDHL	50814	broad.mit.edu	37	chrX	152037483	152037483	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggtgatggtgatcagTcctgtcatccagctgcagcc	12	12	2	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:152037483T>A	uc004fgt.1	+	9	1206	c.945T>A	c.(943-945)AGT>AGA	p.S315R	NSDHL_uc004fgs.1_Missense_Mutation_p.S315R	NM_001129765	NP_001123237	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	315	Helical; (Potential).				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity				0	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	TGGTGATCAGTCCTGTCATCC	0.587													A	152037483	T	A	152037483	3	1	11	1	0	0	0	0	1	0	0	0	10670	1664	58	5	971	5	NSDHL	23	152037483	Missense_Mutation	SNP	T	TCGA-BR-4256-01A-01D-1126-08	660915	152037483	3233077	1166	10005											
DNASE1L1	1774	broad.mit.edu	37	chrX	153631964	153631964	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctgtgttttgtgtgacCtgggaggacaaagggatggg	18	5	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:153631964C>T	uc004fks.1	-	5	503	c.312_splice	c.e5-1	p.R104_splice	RPL10_uc004fkq.1_RNA|RPL10_uc004fkr.1_3'UTR|DNASE1L1_uc004fkt.1_Splice_Site_p.R104_splice|DNASE1L1_uc004fku.1_Splice_Site_p.R104_splice|DNASE1L1_uc004fkv.1_Splice_Site_p.R104_splice|DNASE1L1_uc004fkw.1_Splice_Site_p.R104_splice	NM_006730	NP_006721	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1 precursor						DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTTGTGTGACCTGGGAGGACA	0.567													T	153631964	C	T	153631964	5	4	11	1	0	0	0	0	0	0	1	0	4661	695	24	4	613	4	DNASE1L1	23	153631964	Splice_Site	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1594481	153631964	1638596	1167	10006											
IL9R	3581	broad.mit.edu	37	chrX	155232611	155232611	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgaggcgagacatgggCacctggctcctggcctgcat	14	14	0	2			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:155232611C>T	uc004fnv.1	+	2	248	c.69C>T	c.(67-69)GGC>GGT	p.G23G	IL9R_uc010nvn.2_Silent_p.G2G|IL9R_uc004fnu.1_Silent_p.G70G	NM_002186	NP_002177	Q01113	IL9R_HUMAN	interleukin 9 receptor precursor	23					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAGACATGGGCACCTGGCTCC	0.612													T	155232611	C	T	155232611	2	4	11	1	0	0	0	0	0	0	0	1	7708	697	25	2		2	IL9R	23	155232611	Silent	SNP	C	TCGA-BR-4256-01A-01D-1126-08	1600647	155232611	37949	1168	10007											
NLGN4Y	22829	broad.mit.edu	37	chrY	16953056	16953056	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccaaacacattgatggggAtgcagcctttacacactttt	7	10	0	1			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrY:16953056A>G	uc004ftg.2	+	6	2617	c.2365A>G	c.(2365-2367)ATG>GTG	p.M789V	NLGN4Y_uc004fte.2_Missense_Mutation_p.M621V|NLGN4Y_uc011nas.1_Missense_Mutation_p.M809V|NLGN4Y_uc004ftf.2_Missense_Mutation_p.M482V|NLGN4Y_uc004fth.2_Missense_Mutation_p.M789V	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked isoform 1	789	Cytoplasmic (Potential).				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity				0						ATTGATGGGGATGCAGCCTTT	0.483													G	16953056	A	G	16953056	3	3	11	1	0	0	0	0	1	0	0	0	10465	333	12	3	2537	3	NLGN4Y	24	16953056	Missense_Mutation	SNP	A	TCGA-BR-4256-01A-01D-1126-08		16953056	42420510	1169	10008											
ATAD3A	55210	broad.mit.edu	37	chr1	1455959	1455959	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttgtttggggaaggattcCgtgcctttgtgacagactgg	14	8	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:1455959C>A	uc001afz.1	+	7	950	c.856C>A	c.(856-858)CGT>AGT	p.R286S	ATAD3A_uc001aga.1_Missense_Mutation_p.R238S|ATAD3A_uc001agb.1_Missense_Mutation_p.R159S	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	286							ATP binding|nucleoside-triphosphatase activity|protein binding			skin(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		GGAAGGATTCCGTGCCTTTGT	0.587													A	1455959	C	A	1455959	3	1	12	1	0	0	0	0	1	0	0	0	1073	652	23	5	882	5	ATAD3A	1	1455959	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08		1455959	247794662	1	10009											
NADK	65220	broad.mit.edu	37	chr1	1687948	1687948	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctgacagcccaccttctcGaaaggtacagaatttcttct	7	12	3	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:1687948G>A	uc009vkw.2	-	5	614	c.493C>T	c.(493-495)CGA>TGA	p.R165*	NADK_uc001aic.2_Nonsense_Mutation_p.R165*|NADK_uc001aid.3_Nonsense_Mutation_p.R165*|NADK_uc001aie.2_Nonsense_Mutation_p.R310*|NADK_uc010nyv.1_Nonsense_Mutation_p.R133*|NADK_uc009vkx.1_Nonsense_Mutation_p.R43*	NM_023018	NP_075394	O95544	NADK_HUMAN	NAD kinase	165					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CCACCTTCTCGAAAGGTACAG	0.517													A	1687948	G	A	1687948	4	1	12	1	0	0	0	0	0	1	0	0	10137	1066	37	1	879	1	NADK	1	1687948	Nonsense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	231989	1687948	247562673	2	10010											
PRDM16	63976	broad.mit.edu	37	chr1	3342751	3342751	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagaaactttattgccaaTagtgagatgaaccaagcatc	7	8	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:3342751T>C	uc001akf.2	+	14	3326	c.3246T>C	c.(3244-3246)AAT>AAC	p.N1082N	PRDM16_uc001akc.2_Silent_p.N1081N|PRDM16_uc001akd.2_Silent_p.N1081N|PRDM16_uc001ake.2_Silent_p.N1082N|PRDM16_uc009vlh.2_Silent_p.N782N	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	1082	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TTATTGCCAATAGTGAGATGA	0.522			T	EVI1	MDS|AML								C	3342751	T	C	3342751	2	2	12	1	0	0	0	0	0	0	0	1	12457	1403	49	3		3	PRDM16	1	3342751	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1654803	3342751	245907870	3	10011											
KIAA0562	9731	broad.mit.edu	37	chr1	3755627	3755627	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttggcgagatcgtagtcTtccttctccacggcacagcg	10	14	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:3755627T>C	uc001aky.2	-	8	1151	c.792A>G	c.(790-792)GAA>GAG	p.E264E	KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Silent_p.E264E	NM_014704	NP_055519	O60308	CE104_HUMAN	glycine-, glutamate-,	264	Potential.					centriole	binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)		GATCGTAGTCTTCCTTCTCCA	0.517													C	3755627	T	C	3755627	2	2	12	1	0	0	0	0	0	0	0	1	8184	1606	56	3		3	KIAA0562	1	3755627	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	412876	3755627	245494994	4	10012											
RERE	473	broad.mit.edu	37	chr1	8421436	8421436	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggggatgctcggggacgTgctgcgattgtcctggtcga	18	9	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:8421436T>C	uc001ape.2	-	19	2941	c.2131A>G	c.(2131-2133)ACG>GCG	p.T711A	RERE_uc001apf.2_Missense_Mutation_p.T711A|RERE_uc010nzx.1_Missense_Mutation_p.T443A|RERE_uc001apd.2_Missense_Mutation_p.T157A	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	711					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTCGGGGACGTGCTGCGATTG	0.617													C	8421436	T	C	8421436	3	2	12	1	0	0	0	0	1	0	0	0	13231	1696	59	3	2593	3	RERE	1	8421436	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	4665809	8421436	240829185	5	10013											
APITD1	378708	broad.mit.edu	37	chr1	10502436	10502436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcaaggcagccagcagagGctggagtggtggaaagtgag	17	6	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:10502436G>A	uc001are.2	+	5	807	c.391G>A	c.(391-393)GCT>ACT	p.A131T	APITD1_uc001arf.2_Intron|APITD1_uc001arg.2_Intron|APITD1_uc001arh.2_Missense_Mutation_p.A92T	NM_199294	NP_954988	Q8N2Z9	CENPS_HUMAN	apoptosis-inducing, TAF9-like domain 1 isoform	131					DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent	chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			ovary(1)	1	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GCCAGCAGAGGCTGGAGTGGT	0.453													A	10502436	G	A	10502436	3	1	12	1	0	0	0	0	1	0	0	0	775	1203	42	2	409	2	APITD1	1	10502436	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2081000	10502436	238748185	6	10014											
FBXO44	93611	broad.mit.edu	37	chr1	11716005	11716005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtctgcagcctctggcGggacctcatcgacctcgtga	12	15	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:11716005G>A	uc001asm.2	+	2	239	c.113G>A	c.(112-114)CGG>CAG	p.R38Q	FBXO2_uc001asj.2_5'Flank|FBXO2_uc009vna.2_5'Flank|FBXO2_uc009vnb.1_5'Flank|FBXO44_uc001ask.2_Missense_Mutation_p.R38Q|FBXO44_uc010oaq.1_Missense_Mutation_p.R38Q|FBXO44_uc001asl.2_Missense_Mutation_p.R38Q|FBXO44_uc001asn.2_Missense_Mutation_p.R38Q|FBXO44_uc010oar.1_Missense_Mutation_p.R38Q|FBXO44_uc010oas.1_5'UTR	NM_033182	NP_149438	Q9H4M3	FBX44_HUMAN	F-box protein 44 isoform 1	38	F-box.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCTCTGGCGGGACCTCATC	0.632													A	11716005	G	A	11716005	3	1	12	1	0	0	0	0	1	0	0	0	5753	1116	39	1	115	1	FBXO44	1	11716005	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1213569	11716005	237534616	7	10015											
CLCN6	1185	broad.mit.edu	37	chr1	11894557	11894557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtggccaaatggacagGggactttttcaataagggca	13	7	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:11894557G>A	uc001ate.3	+	17	1816	c.1703G>A	c.(1702-1704)GGG>GAG	p.G568E	CLCN6_uc010oat.1_Missense_Mutation_p.G284E|CLCN6_uc010oau.1_Missense_Mutation_p.G546E	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	568	Helical; (By similarity).				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AAATGGACAGGGGACTTTTTC	0.547													A	11894557	G	A	11894557	3	1	12	1	0	0	0	0	1	0	0	0	3467	1232	43	4	1779	4	CLCN6	1	11894557	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	178552	11894557	237356064	8	10016											
EPHA2	1969	broad.mit.edu	37	chr1	16459802	16459802	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcgtcttgatggccacCggcacctccttcttccccga	8	17	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:16459802C>T	uc001aya.1	-	11	2063	c.1926G>A	c.(1924-1926)CCG>CCA	p.P642P		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	642	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TGATGGCCACCGGCACCTCCT	0.612													T	16459802	C	T	16459802	2	4	12	1	0	0	0	0	0	0	0	1	5167	639	23	1		1	EPHA2	1	16459802	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	4565245	16459802	232790819	9	10017											
PADI3	51702	broad.mit.edu	37	chr1	17607262	17607262	+	Frame_Shift_Del	DEL	A	A	-													agctcttcaagaccgagaggAaaaaagcaacggccttcttc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:17607261_17607261GA>G	uc001bai.3	+	14	1771	c.1731_1731GA>G	c.(1729-1731)aggfs	p.R577fs		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	577					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGACCGAGAGGAAAAAAGCAA	0.542													-	17607262	A	-	17607262	7	5	12	1	0	1	0	1	0	0	0	0	11379	247	9	0	1790	0	PADI3	1	17607262	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	1147460	17607262	231643359	10	10018											
PADI4	23569	broad.mit.edu	37	chr1	17666222	17666222	+	Frame_Shift_Del	DEL	C	C	-													gatgaccctgagcacgaagaCccccaaggacttcttcacaa							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:17666221_17666221AC>A	uc001baj.2	+	5	593	c.565_565AC>A	c.(565-567)accfs	p.T189fs	PADI4_uc009vpc.2_Frame_Shift_Del_p.T189fs	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	189					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GAGCACGAAGACCCCCAAGGA	0.567													-	17666222	C	-	17666222	7	5	12	1	0	1	0	1	0	0	0	0	11380	507	18	0	588	0	PADI4	1	17666222	Frame_Shift_Del	DEL	C	TCGA-BR-4257-01A-01D-1126-08	58960	17666222	231584399	11	10019											
UBR4	23352	broad.mit.edu	37	chr1	19467923	19467923	+	Frame_Shift_Del	DEL	G	G	-													tcaggtgggatgtccagcatGggggggaagccctctgcgcc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:19467922_19467922TG>T	uc001bbi.3	-	56	8411	c.8407_8407CA>A	c.(8407-8409)atgfs	p.M2803fs	UBR4_uc001bbk.1_Frame_Shift_Del_p.M485fs	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2803					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATGTCCAGCATGGGGGGGAAG	0.587													-	19467923	G	-	19467923	7	5	12	1	0	1	0	1	0	0	0	0	16901	1335	47	0	7345	0	UBR4	1	19467923	Frame_Shift_Del	DEL	G	TCGA-BR-4257-01A-01D-1126-08	1801701	19467923	229782698	12	10020											
UBR4	23352	broad.mit.edu	37	chr1	19471342	19471342	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatacaatccagctcacaggTacagtagccatggatgatgt	9	9	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:19471342T>C	uc001bbi.2	-	54	8009	c.8005A>G	c.(8005-8007)ACC>GCC	p.T2669A	UBR4_uc001bbk.1_Missense_Mutation_p.T351A	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2669					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGCTCACAGGTACAGTAGCCA	0.438													C	19471342	T	C	19471342	3	2	12	1	0	0	0	0	1	0	0	0	16901	1638	57	3	7758	3	UBR4	1	19471342	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	3419	19471342	229779279	13	10021											
TMCO4	255104	broad.mit.edu	37	chr1	20066382	20066382	+	Frame_Shift_Del	DEL	C	C	-													tgctgatcgatggagacacaCcccccaggggttgtcgatga							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:20066382delC	uc001bcn.2	-	12	1356	c.1114delG	c.(1114-1116)GTGfs	p.V372fs	TMCO4_uc001bcm.2_Intron|TMCO4_uc001bco.1_Frame_Shift_Del_p.V372fs|TMCO4_uc001bcp.1_Frame_Shift_Del_p.V332fs	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	372						integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TGGAGACACACCCCCCAGGGG	0.607													-	20066382	C	-	20066382	7	5	12	1	0	1	0	1	0	0	0	0	15995	507	18	0	810	0	TMCO4	1	20066382	Frame_Shift_Del	DEL	C	TCGA-BR-4257-01A-01D-1126-08	595040	20066382	229184239	14	10022											
CNKSR1	10256	broad.mit.edu	37	chr1	26506988	26506988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccctttgaggactggcagCtgcctggcaagaacctgctc	11	13	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:26506988C>T	uc001bln.3	+	2	155	c.97C>T	c.(97-99)CTG>TTG	p.L33L	CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Silent_p.L33L|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras	33	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			lung(1)|kidney(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GGACTGGCAGCTGCCTGGCAA	0.602													T	26506988	C	T	26506988	2	4	12	1	0	0	0	0	0	0	0	1	3606	796	28	2		2	CNKSR1	1	26506988	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	6440606	26506988	222743633	15	10023											
NUDC	10726	broad.mit.edu	37	chr1	27269258	27269258	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctggacccagaccctgtcGgagctggacgtgagtgtcag	15	12	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:27269258G>A	uc001bng.1	+	5	653	c.537G>A	c.(535-537)TCG>TCA	p.S179S	NUDC_uc001bnh.1_Silent_p.S236S|NUDC_uc009vsq.1_Silent_p.S153S	NM_006600	NP_006591	Q9Y266	NUDC_HUMAN	nuclear distribution gene C homolog	179	CS.				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		AGACCCTGTCGGAGCTGGACG	0.577													A	27269258	G	A	27269258	2	1	12	1	0	0	0	0	0	0	0	1	10721	1103	39	1		1	NUDC	1	27269258	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	762270	27269258	221981363	16	10024											
WDTC1	23038	broad.mit.edu	37	chr1	27621108	27621109	+	Frame_Shift_Ins	INS	-	-	G													cagagctactagtcaacatgINSgggggggaacaggtatgtac					rs145339479		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:27621107_27621108T>TG	uc009vst.2	+	8	1395_1396	c.860_861T>TG	c.(859-861)atgfs	p.M287fs	WDTC1_uc001bno.3_Frame_Shift_Ins_p.M287fs|WDTC1_uc001bnp.1_Non-coding_Transcript|WDTC1_uc001bnq.3_5'Flank	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA.	287							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTAGTCAACATGGGGGGGGAAC	0.54													G	27621109	-	G	27621108	7	5	12	1	0	1	1	0	0	0	0	0	17339	1348	47	0	891	0	WDTC1	1	27621108	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	351850	27621108	221629513	17	10025											
HCRTR1	3061	broad.mit.edu	37	chr1	32086581	32086581	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcatctgggctgtgtcGctggccatcatggtgcccca	14	13	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:32086581G>A	uc009vtx.2	+	5	901	c.516G>A	c.(514-516)TCG>TCA	p.S172S	HCRTR1_uc001btb.2_5'UTR|HCRTR1_uc001btc.3_Silent_p.S86S|HCRTR1_uc001btd.2_Silent_p.S172S|HCRTR1_uc010ogl.1_Silent_p.S172S	NM_001525	NP_001516	O43613	OX1R_HUMAN	orexin receptor 1	172	Helical; Name=4; (Potential).				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				ovary(1)	1		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		GGGCTGTGTCGCTGGCCATCA	0.617													A	32086581	G	A	32086581	2	1	12	1	0	0	0	0	0	0	0	1	7001	1074	38	1		1	HCRTR1	1	32086581	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	4465473	32086581	217164040	18	10026											
COL16A1	1307	broad.mit.edu	37	chr1	32150143	32150143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttttctccttttggccccGcggggccctgaactccaggc	10	17	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:32150143G>A	uc001btk.1	-	31	2506	c.2141C>T	c.(2140-2142)GCG>GTG	p.A714V	COL16A1_uc001btj.1_Missense_Mutation_p.A543V|COL16A1_uc001btl.3_Missense_Mutation_p.A714V	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	714	Triple-helical region 6 (COL6) with 1 imperfection.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TTTTGGCCCCGCGGGGCCCTG	0.602													A	32150143	G	A	32150143	3	1	12	1	0	0	0	0	1	0	0	0	3673	1087	38	1	2837	1	COL16A1	1	32150143	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	63562	32150143	217100478	19	10027											
BAI2	576	broad.mit.edu	37	chr1	32193865	32193865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagttctgaatgccgtttcCgggtgtgcatcaccttctag	11	10	3	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:32193865C>T	uc001btn.2	-	31	4787	c.4433G>A	c.(4432-4434)CGG>CAG	p.R1478Q	BAI2_uc001btm.2_Missense_Mutation_p.R472Q|BAI2_uc001btp.1_Missense_Mutation_p.R472Q|BAI2_uc010ogn.1_Missense_Mutation_p.R448Q|BAI2_uc010ogo.1_Missense_Mutation_p.R1087Q|BAI2_uc010ogp.1_Missense_Mutation_p.R1411Q|BAI2_uc010ogq.1_Missense_Mutation_p.R1444Q|BAI2_uc001bto.2_Missense_Mutation_p.R1477Q	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1478	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		ATGCCGTTTCCGGGTGTGCAT	0.637													T	32193865	C	T	32193865	3	4	12	1	0	0	0	0	1	0	0	0	1299	652	23	1	336	1	BAI2	1	32193865	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	43722	32193865	217056756	20	10028											
LCK	3932	broad.mit.edu	37	chr1	32745576	32745576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgcctcattgaggacaaCgagtacacagccagggaggg	14	11	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:32745576C>T	uc001bux.2	+	11	1314	c.1176C>T	c.(1174-1176)AAC>AAT	p.N392N	LCK_uc001buy.2_Silent_p.N392N|LCK_uc001buz.2_Silent_p.N422N|LCK_uc010ohc.1_Silent_p.N436N|LCK_uc001bva.2_Silent_p.N399N	NM_005356	NP_005347	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	392	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			lung(3)|central_nervous_system(2)|ovary(1)	6		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	TTGAGGACAACGAGTACACAG	0.557			T	TRB@	T-ALL								T	32745576	C	T	32745576	2	4	12	1	0	0	0	0	0	0	0	1	8676	535	19	1		1	LCK	1	32745576	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	551711	32745576	216505045	21	10029											
CSMD2	114784	broad.mit.edu	37	chr1	34180274	34180274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctccagacggtacccggGgaagcaggagaaggtcaagg	16	11	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:34180274G>A	uc001bxn.1	-	21	3228	c.3199C>T	c.(3199-3201)CCC>TCC	p.P1067S	CSMD2_uc001bxm.1_Missense_Mutation_p.P1107S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1067	Sushi 6.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGGTACCCGGGGAAGCAGGAG	0.662													A	34180274	G	A	34180274	3	1	12	1	0	0	0	0	1	0	0	0	3945	1232	43	4	7460	4	CSMD2	1	34180274	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1434698	34180274	215070347	22	10030											
EIF2C1	26523	broad.mit.edu	37	chr1	36354182	36354182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactacgaggtggacatcaaGccggataagtgtccccgtag	12	11	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:36354182G>T	uc001bzl.2	+	2	393	c.180G>T	c.(178-180)AAG>AAT	p.K60N	EIF2C1_uc001bzk.2_5'UTR	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	60					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGGACATCAAGCCGGATAAGT	0.448													T	36354182	G	T	36354182	3	4	12	1	0	0	0	0	1	0	0	0	5005	962	34	5	186	5	EIF2C1	1	36354182	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2173908	36354182	212896439	23	10031											
LSM10	84967	broad.mit.edu	37	chr1	36859607	36859607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatcgacattgtctatgcGtccgtgggccacgctctcat	10	13	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:36859607G>A	uc001cao.1	-	2	274	c.124C>T	c.(124-126)CGC>TGC	p.R42C		NM_032881	NP_116270	Q969L4	LSM10_HUMAN	LSM10, U7 small nuclear RNA associated	42					histone mRNA metabolic process|mRNA processing|RNA splicing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	Cajal body|U7 snRNP	histone pre-mRNA DCP binding|protein binding				0		Myeloproliferative disorder(586;0.0393)				TTGTCTATGCGTCCGTGGGCC	0.587													A	36859607	G	A	36859607	3	1	12	1	0	0	0	0	1	0	0	0	9051	1145	40	1	251	1	LSM10	1	36859607	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	505425	36859607	212391014	24	10032											
GRIK3	2899	broad.mit.edu	37	chr1	37346391	37346392	+	Frame_Shift_Ins	INS	-	-	G													ttccaacgcagctggatgtgINSgggcacctccagggcattgc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:37346390_37346391T>TG	uc001caz.2	-	2	529_530	c.394_395A>CA	c.(394-396)cacfs	p.H132fs	GRIK3_uc001cba.1_Frame_Shift_Ins_p.H132fs	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	132					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.H132N(2)|p.P131P(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CAGCTGGATGTGGGGCACCTCC	0.624													G	37346392	-	G	37346391	7	5	12	1	0	1	1	0	0	0	0	0	6775	1348	47	0	2421	0	GRIK3	1	37346391	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	486784	37346391	211904230	25	10033											
SF3A3	10946	broad.mit.edu	37	chr1	38433787	38433787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgcccaaacacctcatgCcatgagcatgacgccattcc	8	15	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:38433787C>T	uc001cci.2	-	15	1425	c.1301G>A	c.(1300-1302)GGC>GAC	p.G434D	SF3A3_uc010oik.1_Missense_Mutation_p.G381D	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3	434	Matrin-type.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACACCTCATGCCATGAGCATG	0.428													T	38433787	C	T	38433787	3	4	12	1	0	0	0	0	1	0	0	0	14148	739	26	2	216	2	SF3A3	1	38433787	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1087396	38433787	210816834	26	10034											
MACF1	23499	broad.mit.edu	37	chr1	39900152	39900152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaattcagagcgttatgccCgcctagagcgggcccaggtc	12	13	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:39900152C>T	uc010oiu.1	+	33	13083	c.12952C>T	c.(12952-12954)CGC>TGC	p.R4318C	MACF1_uc010ois.1_Missense_Mutation_p.R3816C|MACF1_uc001cda.1_Missense_Mutation_p.R3703C|MACF1_uc001cdc.1_Missense_Mutation_p.R2773C	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCGTTATGCCCGCCTAGAGCG	0.433													T	39900152	C	T	39900152	3	4	12	1	0	0	0	0	1	0	0	0	9144	652	23	1	17851	1	MACF1	1	39900152	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1466365	39900152	209350469	27	10035											
ZMPSTE24	10269	broad.mit.edu	37	chr1	40724004	40724004	+	Frame_Shift_Del	DEL	G	G	-													cggccgagaagcgtatcttcGgggccgtgctgctcttttcc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:40724004delG	uc001cfg.2	+	1	272	c.61delG	c.(61-63)GGGfs	p.G21fs	uc001cff.2_5'Flank	NM_005857	NP_005848	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	21	Helical; (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity				0	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			GCGTATCTTCGGGGCCGTGCT	0.632													-	40724004	G	-	40724004	7	5	12	1	0	1	0	1	0	0	0	0	17695	1116	39	0	63	0	ZMPSTE24	1	40724004	Frame_Shift_Del	DEL	G	TCGA-BR-4257-01A-01D-1126-08	823852	40724004	208526617	28	10036											
SLC6A9	6536	broad.mit.edu	37	chr1	44474178	44474178	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttccaggggttattgcagTaggcccagggcagcacgtgc	15	10	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:44474178T>C	uc001cll.2	-	5	848	c.656A>G	c.(655-657)TAC>TGC	p.Y219C	SLC6A9_uc009vxe.2_Missense_Mutation_p.Y75C|SLC6A9_uc010okm.1_Missense_Mutation_p.Y146C|SLC6A9_uc001clm.2_Missense_Mutation_p.Y165C|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.Y150C|SLC6A9_uc001cln.2_Missense_Mutation_p.Y146C|SLC6A9_uc010oko.1_Missense_Mutation_p.Y35C|SLC6A9_uc010okp.1_RNA	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	219	Extracellular (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GTTATTGCAGTAGGCCCAGGG	0.582													C	44474178	T	C	44474178	3	2	12	1	0	0	0	0	1	0	0	0	14691	1638	57	3	1504	3	SLC6A9	1	44474178	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	3750174	44474178	204776443	29	10037											
ZSWIM5	57643	broad.mit.edu	37	chr1	45553698	45553698	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatctggaaaagggtttcGgagataggaagacgcaattt	12	5	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:45553698G>T	uc001cnd.2	-	2	1035	c.807C>A	c.(805-807)TCC>TCA	p.S269S		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	269							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					AAAGGGTTTCGGAGATAGGAA	0.448													T	45553698	G	T	45553698	2	4	12	1	0	0	0	0	0	0	0	1	18241	1103	39	5		5	ZSWIM5	1	45553698	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1079520	45553698	203696923	30	10038											
NASP	4678	broad.mit.edu	37	chr1	46073055	46073055	+	Frame_Shift_Del	DEL	A	A	-													tgggagaaaaagaagaagccAaaaaaacagaagacaagtct							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:46073054_46073054CA>C	uc001coi.2	+	5	630	c.471_471CA>C	c.(469-471)gccfs	p.A157fs	NASP_uc010olq.2_Frame_Shift_Del_p.A120fs|NASP_uc021omz.1_Frame_Shift_Del_p.A159fs|NASP_uc001coj.2_Intron|NASP_uc010olr.2_Frame_Shift_Del_p.A93fs|NASP_uc001cok.2_Frame_Shift_Del_p.A40fs	NM_002482	NP_002473	P49321	NASP_HUMAN	Homo sapiens nuclear autoantigenic sperm protein (histone-binding) (NASP), transcript variant 2, mRNA.	157	Glu-rich (acidic).				DNA replication|blastocyst development|cell cycle|cell proliferation|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AAGAAGAAGCCAAAAAAACAG	0.393													-	46073055	A	-	46073055	7	5	12	1	0	1	0	1	0	0	0	0	10172	131	5	0	571	0	NASP	1	46073055	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	519357	46073055	203177566	31	10039											
MKNK1	8569	broad.mit.edu	37	chr1	47046273	47046273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcataggctccctctccaaGcaattcagaggtcagcttgt	10	12	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:47046273G>A	uc001cqb.2	-	4	407	c.163C>T	c.(163-165)CTT>TTT	p.L55F	MKNK1_uc010omd.1_5'UTR|MKNK1_uc001cqc.2_Missense_Mutation_p.L55F|MKNK1_uc009vyi.2_Missense_Mutation_p.L55F|MKNK1_uc010ome.1_5'UTR|MKNK1_uc009vyj.2_Intron|MKNK1_uc001cqd.2_Missense_Mutation_p.L43F|MKNK1_uc010omf.1_Missense_Mutation_p.L55F	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN	MAP kinase-interacting serine/threonine kinase 1	55	Protein kinase.|ATP (By similarity).				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2	Acute lymphoblastic leukemia(166;0.155)					CCCTCTCCAAGCAATTCAGAG	0.468													A	47046273	G	A	47046273	3	1	12	1	0	0	0	0	1	0	0	0	9604	971	34	2	1278	2	MKNK1	1	47046273	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	973218	47046273	202204348	32	10040											
BTF3L4	91408	broad.mit.edu	37	chr1	52551842	52551842	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagatgatgatgttccAggtaagtgacatttccttag	12	5	0	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:52551842A>G	uc001ctk.2	+	5	637	c.429A>G	c.(427-429)CCA>CCG	p.P143P	BTF3L4_uc001ctl.2_Silent_p.P85P|BTF3L4_uc010onh.1_RNA|BTF3L4_uc001ctm.2_Silent_p.P143P	NM_152265	NP_689478	Q96K17	BT3L4_HUMAN	basic transcription factor 3-like 4 isoform 1	143										large_intestine(1)	1						ATGATGTTCCAGGTAAGTGAC	0.333													G	52551842	A	G	52551842	2	3	12	1	0	0	0	0	0	0	0	1	1552	202	7	3		3	BTF3L4	1	52551842	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	5505569	52551842	196698779	33	10041											
LRP8	7804	broad.mit.edu	37	chr1	53722913	53722913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaactcatttccttacaGtgctgggagtggttgctggt	13	8	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:53722913G>A	uc001cvi.1	-	15	2575	c.2433C>T	c.(2431-2433)CAC>CAT	p.H811H	LRP8_uc001cvh.1_Silent_p.H364H|LRP8_uc001cvk.1_Silent_p.H641H|LRP8_uc001cvj.1_Silent_p.H811H|LRP8_uc001cvl.1_Intron|LRP8_uc001cvm.1_Silent_p.H396H	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	811	Extracellular (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0						TTTCCTTACAGTGCTGGGAGT	0.542													A	53722913	G	A	53722913	2	1	12	1	0	0	0	0	0	0	0	1	8963	1043	36	4		4	LRP8	1	53722913	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1171071	53722913	195527708	34	10042											
C1orf83	127428	broad.mit.edu	37	chr1	54554360	54554360	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagtggaaaactttcactgAaaaacattcaaatagacctt	6	7	2	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:54554360A>G	uc001cwt.1	+	4	535	c.335A>G	c.(334-336)GAA>GGA	p.E112G	C1orf83_uc001cwu.1_RNA	NM_153035	NP_694580	Q96MN5	TEAN2_HUMAN	hypothetical protein LOC127428	112	TFIIS N-terminal.				transcription, DNA-dependent	nucleus	DNA binding				0						ACTTTCACTGAAAAACATTCA	0.403													G	54554360	A	G	54554360	3	3	12	1	0	0	0	0	1	0	0	0	2060	246	9	3	345	3	C1orf83	1	54554360	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	831447	54554360	194696261	35	10043											
C1orf168	199920	broad.mit.edu	37	chr1	57258099	57258099	+	Frame_Shift_Del	DEL	T	T	-													aagctattggccaccattacTttttccttagtgattatctc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:57258098_57258098CT>C	uc001cym.4	-	1	794	c.388_388AG>G	c.(388-390)gtafs	p.V130fs	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Frame_Shift_Del_p.V130fs	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	130										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GCCACCATTACTTTTTCCTTA	0.418													-	57258099	T	-	57258099	7	5	12	1	0	1	0	1	0	0	0	0	2012	1606	56	0	1875	0	C1orf168	1	57258099	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	2703739	57258099	191992522	36	10044											
C8A	731	broad.mit.edu	37	chr1	57347128	57347128	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccatgtaggtacaatatcCtgacccaggaagatgctcag	9	10	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:57347128C>A	uc001cyo.2	+	5	607	c.475C>A	c.(475-477)CTG>ATG	p.L159M		NM_000562	NP_000553	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	159	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				ovary(1)|central_nervous_system(1)|skin(1)	3						GTACAATATCCTGACCCAGGA	0.323													A	57347128	C	A	57347128	3	1	12	1	0	0	0	0	1	0	0	0	2416	680	24	5	493	5	C8A	1	57347128	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	89029	57347128	191903493	37	10045											
DNAJC6	9829	broad.mit.edu	37	chr1	65830386	65830386	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatggtaaaaggaggtgcaGggaggctctttagtaaccta	13	6	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:65830386G>T	uc001dcd.1	+	2	255	c.91G>T	c.(91-93)GGG>TGG	p.G31W	DNAJC6_uc001dcc.1_Missense_Mutation_p.G62W|DNAJC6_uc010opc.1_Missense_Mutation_p.G18W|DNAJC6_uc001dce.1_Missense_Mutation_p.G88W	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	31					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						AGGAGGTGCAGGGAGGCTCTT	0.443													T	65830386	G	T	65830386	3	4	12	1	0	0	0	0	1	0	0	0	4653	1000	35	5	97	5	DNAJC6	1	65830386	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	8483258	65830386	183420235	38	10046											
FPGT	8790	broad.mit.edu	37	chr1	74670596	74670597	+	Frame_Shift_Ins	INS	-	-	A													aatgttacttgctttttatgINSaaaaaataggcacactgagc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:74670596_74670597insA	uc001dgb.1	+	4	902_903	c.865_866insA	c.(865-867)GAAfs	p.E289fs	TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	NM_003838	NP_003829	O14772	FPGT_HUMAN	fucose-1-phosphate guanyltransferase	289					fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding			skin(1)	1						TGCTTTTTATGAAAAAATAGGC	0.391													A	74670597	-	A	74670596	7	5	12	1	0	1	1	0	0	0	0	0	6037	1291	45	0	879	0	FPGT	1	74670596	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	8840210	74670596	174580025	39	10047											
USP33	23032	broad.mit.edu	37	chr1	78204970	78204970	+	Frame_Shift_Del	DEL	T	T	-													ctggacactgttttcttgtaTttggtgaggttgtcttacat							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:78204970delT	uc001dht.2	-	6	771	c.424delA	c.(424-426)ATAfs	p.I142fs	USP33_uc001dhu.2_Frame_Shift_Del_p.I111fs|USP33_uc001dhv.2_5'UTR|USP33_uc001dhw.2_Frame_Shift_Del_p.I142fs	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	142					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3						TTTTCTTGTATTTGGTGAGGT	0.363													-	78204970	T	-	78204970	7	5	12	1	0	1	0	1	0	0	0	0	17061	1493	52	0	2496	0	USP33	1	78204970	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	3534374	78204970	171045651	40	10048											
PRKACB	5567	broad.mit.edu	37	chr1	84679841	84679841	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgtttgtgtaggtccgAttcccatcccacttcagttc	10	11	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:84679841A>G	uc001djj.2	+	9	1035	c.771A>G	c.(769-771)CGA>CGG	p.R257R	PRKACB_uc001djl.2_Silent_p.R304R|PRKACB_uc010ort.1_Silent_p.R264R|PRKACB_uc001djn.2_Silent_p.R261R|PRKACB_uc010oru.1_Silent_p.R245R|PRKACB_uc001djp.2_Silent_p.R263R|PRKACB_uc001djq.2_Silent_p.R227R|PRKACB_uc010orv.1_Silent_p.R244R	NM_002731	NP_002722	P22694	KAPCB_HUMAN	cAMP-dependent protein kinase catalytic subunit	257	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			lung(2)|ovary(1)	3				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TGTAGGTCCGATTCCCATCCC	0.398													G	84679841	A	G	84679841	2	3	12	1	0	0	0	0	0	0	0	1	12498	320	12	3		3	PRKACB	1	84679841	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	6474871	84679841	164570780	41	10049											
COL24A1	255631	broad.mit.edu	37	chr1	86590960	86590960	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgcctcactgatgcgatgAgtggtcactgacaggctgaa	12	9	2	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:86590960A>G	uc001dlj.2	-	3	1101	c.1059T>C	c.(1057-1059)ACT>ACC	p.T353T	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Silent_p.T353T	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	353					cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGATGCGATGAGTGGTCACTG	0.413													G	86590960	A	G	86590960	2	3	12	1	0	0	0	0	0	0	0	1	3683	291	11	3		3	COL24A1	1	86590960	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1911119	86590960	162659661	42	10050											
LRRC8B	23507	broad.mit.edu	37	chr1	90049770	90049770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactttatctttcgggctgtGttctccctgaacagttgagt	9	9	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:90049770G>A	uc001dni.2	+	7	2068	c.1561G>A	c.(1561-1563)GTT>ATT	p.V521I	LRRC8B_uc001dnh.2_Missense_Mutation_p.V521I|LRRC8B_uc001dnj.2_Missense_Mutation_p.V521I	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	521	LRR 3.					integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TTCGGGCTGTGTTCTCCCTGA	0.443													A	90049770	G	A	90049770	3	1	12	1	0	0	0	0	1	0	0	0	9022	1377	48	4	1563	4	LRRC8B	1	90049770	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	3458810	90049770	159200851	43	10051											
ZNF326	284695	broad.mit.edu	37	chr1	90473078	90473078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcggaggtagaaaccagggCgggtctagctgggaagcacc	16	9	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:90473078C>T	uc001dnq.2	+	5	523	c.384C>T	c.(382-384)GGC>GGT	p.G128G	ZNF326_uc009wda.1_Intron|ZNF326_uc001dnr.2_Intron	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326 isoform 1	128	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			ovary(1)	1		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GAAACCAGGGCGGGTCTAGCT	0.488													T	90473078	C	T	90473078	2	4	12	1	0	0	0	0	0	0	0	1	17843	755	27	1		1	ZNF326	1	90473078	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	423308	90473078	158777543	44	10052											
BTBD8	284697	broad.mit.edu	37	chr1	92568094	92568094	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattcttaggaaaaagataAtggagattgggatatcacaa	9	3	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:92568094A>G	uc001doo.2	+	3	679	c.412A>G	c.(412-414)ATG>GTG	p.M138V	BTBD8_uc010otc.1_RNA	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	138						nucleus				ovary(1)	1		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		GAAAAAGATAATGGAGATTGG	0.279													G	92568094	A	G	92568094	3	3	12	1	0	0	0	0	1	0	0	0	1547	101	4	3	422	3	BTBD8	1	92568094	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2095016	92568094	156682527	45	10053											
CCDC18	343099	broad.mit.edu	37	chr1	93698101	93698101	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcaaatgttacaacaagagaCaattagaaatggagagctag	10	5	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:93698101C>G	uc001dpq.2	+	18	2933	c.2765C>G	c.(2764-2766)ACA>AGA	p.T922R	CCDC18_uc009wdl.1_Missense_Mutation_p.T439R	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	803	Potential.									ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CAACAAGAGACAATTAGAAAT	0.313													G	93698101	C	G	93698101	3	3	12	1	0	0	0	0	1	0	0	0	2794	478	17	5	2835	5	CCDC18	1	93698101	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1130007	93698101	155552520	46	10054											
PTBP2	58155	broad.mit.edu	37	chr1	97243163	97243163	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgctcaggcagttcttcaagCtgtgacagctgtccagacag	11	11	3	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:97243163C>G	uc001drq.2	+	6	701	c.455C>G	c.(454-456)GCT>GGT	p.A152G	PTBP2_uc001drn.2_Missense_Mutation_p.A152G|PTBP2_uc001dro.2_Missense_Mutation_p.A152G|PTBP2_uc010otz.1_Missense_Mutation_p.A163G|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.A100G|PTBP2_uc001drr.2_Missense_Mutation_p.A152G|PTBP2_uc010oua.1_Missense_Mutation_p.A160G|PTBP2_uc001dru.2_RNA	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	152							nucleotide binding				0		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		GTTCTTCAAGCTGTGACAGCT	0.423													G	97243163	C	G	97243163	3	3	12	1	0	0	0	0	1	0	0	0	12726	797	28	5	477	5	PTBP2	1	97243163	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3545062	97243163	152007458	47	10055											
GNAI3	2773	broad.mit.edu	37	chr1	110134705	110134705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctgcctatattcaatgCcagtttgaagatctgaacag	9	9	2	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:110134705C>T	uc001dxz.2	+	8	1072	c.915C>T	c.(913-915)TGC>TGT	p.C305C		NM_006496	NP_006487	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein),	305					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			ovary(1)	1		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		ATATTCAATGCCAGTTTGAAG	0.418													T	110134705	C	T	110134705	2	4	12	1	0	0	0	0	0	0	0	1	6506	747	26	2		2	GNAI3	1	110134705	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	12891542	110134705	139115916	48	10056											
KCNA10	3744	broad.mit.edu	37	chr1	111060871	111060871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaagccttcatcctccCggaactggtccatggcctca	9	14	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:111060871C>T	uc001dzt.1	-	1	927	c.539G>A	c.(538-540)CGG>CAG	p.R180Q		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	180						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TTCATCCTCCCGGAACTGGTC	0.507													T	111060871	C	T	111060871	3	4	12	1	0	0	0	0	1	0	0	0	8002	652	23	1	1000	1	KCNA10	1	111060871	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	926166	111060871	138189750	49	10057											
CHI3L2	1117	broad.mit.edu	37	chr1	111781482	111781482	+	Frame_Shift_Del	DEL	G	G	-													gcctctgcagaaaccaccgtGggggcccctgcctctggccc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:111781481_111781481TG>T	uc001eam.3	+	7	916	c.845_845TG>T	c.(844-846)gtgfs	p.V282fs	CHI3L2_uc001ean.3_Frame_Shift_Del_p.V272fs|CHI3L2_uc001eao.3_Frame_Shift_Del_p.V203fs	NM_004000	NP_001020370	Q15782	CH3L2_HUMAN	Homo sapiens chitinase 3-like 2 (CHI3L2), transcript variant 1, mRNA.	282					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		GAAACCACCGTGGGGGCCCCT	0.582													-	111781482	G	-	111781482	7	5	12	1	0	1	0	1	0	0	0	0	3341	1335	47	0	876	0	CHI3L2	1	111781482	Frame_Shift_Del	DEL	G	TCGA-BR-4257-01A-01D-1126-08	720611	111781482	137469139	50	10058											
WNT2B	7482	broad.mit.edu	37	chr1	113057636	113057636	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatggatccgagagtgtcAgcaccaattccgccaccacc	9	14	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:113057636A>G	uc001ecb.2	+	2	838	c.323A>G	c.(322-324)CAG>CGG	p.Q108R	WNT2B_uc001eca.2_Missense_Mutation_p.Q89R|WNT2B_uc009wgg.2_Missense_Mutation_p.Q16R	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family,	108					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			ovary(2)|breast(2)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGAGAGTGTCAGCACCAATTC	0.602													G	113057636	A	G	113057636	3	3	12	1	0	0	0	0	1	0	0	0	17384	188	7	3	462	3	WNT2B	1	113057636	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1276154	113057636	136192985	51	10059											
LRIG2	9860	broad.mit.edu	37	chr1	113666514	113666514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaacattgcagcggcccGtgtggaacataaacagagaa	11	9	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:113666514G>A	uc001edf.1	+	18	3187	c.2989G>A	c.(2989-2991)GTG>ATG	p.V997M	LRIG2_uc009wgn.1_Missense_Mutation_p.V894M	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	997	Cytoplasmic (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GCAGCGGCCCGTGTGGAACAT	0.438													A	113666514	G	A	113666514	3	1	12	1	0	0	0	0	1	0	0	0	8945	1145	40	1	3059	1	LRIG2	1	113666514	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	608878	113666514	135584107	52	10060											
MAGI3	260425	broad.mit.edu	37	chr1	114201800	114201800	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctgcagtgaatgggcagTccattgttgaactgtctcat	10	9	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:114201800T>C	uc001edk.2	+	16	2909	c.2728T>C	c.(2728-2730)TCC>CCC	p.S910P	MAGI3_uc001edh.3_Missense_Mutation_p.S935P|MAGI3_uc001edi.3_Missense_Mutation_p.S910P|MAGI3_uc010owm.1_Missense_Mutation_p.S935P|MAGI3_uc001edj.2_Missense_Mutation_p.S631P	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	935	Interaction with LPAR2 and GRIN2B.|PDZ 5.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAATGGGCAGTCCATTGTTGA	0.453													C	114201800	T	C	114201800	3	2	12	1	0	0	0	0	1	0	0	0	9192	1667	58	3	2790	3	MAGI3	1	114201800	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	535286	114201800	135048821	53	10061											
PHTF1	10745	broad.mit.edu	37	chr1	114247302	114247302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcacctttagataggaacGcagtgataaccatattttaa	6	8	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:114247302G>A	uc009wgp.1	-	13	2241	c.1789C>T	c.(1789-1791)CGT>TGT	p.R597C	PHTF1_uc001edn.2_Missense_Mutation_p.R597C|PHTF1_uc001edm.2_Missense_Mutation_p.R354C	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	597						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGATAGGAACGCAGTGATAAC	0.373													A	114247302	G	A	114247302	3	1	12	1	0	0	0	0	1	0	0	0	11862	1087	38	1	523	1	PHTF1	1	114247302	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	45502	114247302	135003319	54	10062											
PHTF1	10745	broad.mit.edu	37	chr1	114248546	114248547	+	Frame_Shift_Ins	INS	-	-	A													ctctgccacacacatcatgaINSaaaaaaacatccaagtaaga							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:114248545_114248546G>GA	uc009wgp.1	-	11	2089_2090	c.1637_1638C>TC	c.(1636-1638)ttcfs	p.F546fs	PHTF1_uc001edn.3_Frame_Shift_Ins_p.F546fs|PHTF1_uc001edm.2_Frame_Shift_Ins_p.F303fs|PHTF1_uc001edo.1_Frame_Shift_Ins_p.F303fs	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	Homo sapiens putative homeodomain transcription factor 1 (PHTF1), mRNA.	546						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACACATCATGAAAAAAAACAT	0.327													A	114248547	-	A	114248546	7	5	12	1	0	1	1	0	0	0	0	0	11862	246	9	0	679	0	PHTF1	1	114248546	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	1244	114248546	135002075	55	10063											
PIAS3	10401	broad.mit.edu	37	chr1	145580195	145580195	+	Frame_Shift_Del	DEL	T	T	-													ctcccttctccagggttaccTtcccccaaccaagaatgggg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:145580194_145580194CT>C	uc001eoc.1	+	5	767	c.676_676CT>C	c.(676-678)cttfs	p.L226fs	PIAS3_uc010oyy.1_Frame_Shift_Del_p.L217fs|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	226	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCAGGGTTACCTTCCCCCAAC	0.557													-	145580195	T	-	145580195	7	5	12	1	0	1	0	1	0	0	0	0	11877	1609	56	0	699	0	PIAS3	1	145580195	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	31331649	145580195	103670426	56	10064											
PIAS3	10401	broad.mit.edu	37	chr1	145580520	145580520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagaattactccttgtctGtgtacctggtgaggcagttg	12	7	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:145580520G>A	uc001eoc.1	+	7	911	c.820G>A	c.(820-822)GTG>ATG	p.V274M	NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_3'UTR|PIAS3_uc001eod.1_Translation_Start_Site	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	274	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTCCTTGTCTGTGTACCTGGT	0.512													A	145580520	G	A	145580520	3	1	12	1	0	0	0	0	1	0	0	0	11877	1377	48	4	846	4	PIAS3	1	145580520	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	325	145580520	103670101	57	10065											
PRPF3	9129	broad.mit.edu	37	chr1	150307612	150307612	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaatccaataccttttttgAcccccgagtctccattgccc	6	15	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:150307612A>G	uc001eum.3	+	7	1097	c.935A>G	c.(934-936)GAC>GGC	p.D312G	PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Missense_Mutation_p.D271G|PRPF3_uc010pcb.1_Missense_Mutation_p.D263G|PRPF3_uc009wlq.1_RNA	NM_004698	NP_004689	O43395	PRPF3_HUMAN	PRP3 pre-mRNA processing factor 3 homolog	312					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	p.D312E(1)		ovary(1)	1	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		ACCTTTTTTGACCCCCGAGTC	0.453													G	150307612	A	G	150307612	3	3	12	1	0	0	0	0	1	0	0	0	12565	275	10	3	957	3	PRPF3	1	150307612	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	4727092	150307612	98943009	58	10066											
RPRD2	23248	broad.mit.edu	37	chr1	150444651	150444651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcttagacttgcctgAtagcacagaagaaaaggggg	12	9	0	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:150444651A>G	uc009wlr.2	+	11	3428	c.3227A>G	c.(3226-3228)GAT>GGT	p.D1076G	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.D1050G	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	1076							protein binding			ovary(1)	1						GACTTGCCTGATAGCACAGAA	0.537													G	150444651	A	G	150444651	3	3	12	1	0	0	0	0	1	0	0	0	13617	333	12	3	3269	3	RPRD2	1	150444651	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	137039	150444651	98805970	59	10067											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150529494	150529494	+	Frame_Shift_Del	DEL	C	C	-													tccaatccttgagaaccccaCcccagagccccctgtccccc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:150529493_150529493AC>A	uc009wlw.3	+	10	2055	c.1897_1897AC>A	c.(1897-1899)accfs	p.T633fs	ADAMTSL4_uc001euw.3_Frame_Shift_Del_p.T610fs|ADAMTSL4_uc001eux.3_Frame_Shift_Del_p.T610fs|ADAMTSL4_uc010pcg.2_Intron|ADAMTSL4_uc009wlx.3_5'Flank	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	610	Pro-rich.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGAGAACCCCACCCCAGAGCC	0.567													-	150529494	C	-	150529494	7	5	12	1	0	1	0	1	0	0	0	0	277	507	18	0	1863	0	ADAMTSL4	1	150529494	Frame_Shift_Del	DEL	C	TCGA-BR-4257-01A-01D-1126-08	84843	150529494	98721127	60	10068											
TCHH	7062	broad.mit.edu	37	chr1	152082386	152082386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctctcccgctcctggcGccttctcttctccggttcct	7	19	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:152082386G>A	uc001ezp.2	-	2	3307	c.3307C>T	c.(3307-3309)CGC>TGC	p.R1103C	TCHH_uc009wne.1_Missense_Mutation_p.R1103C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1103	10 X 30 AA tandem repeats.|4-7.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCTCCTGGCGCCTTCTCTTC	0.174													A	152082386	G	A	152082386	3	1	12	1	0	0	0	0	1	0	0	0	15697	1087	38	1	2528	1	TCHH	1	152082386	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1552892	152082386	97168235	61	10069											
FLG	2312	broad.mit.edu	37	chr1	152283156	152283156	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgtgtgtctgagtcttcTgaatgtccctcactgttagt	10	9	4	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:152283156T>C	uc001ezu.1	-	3	4242	c.4206A>G	c.(4204-4206)TCA>TCG	p.S1402S	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1402	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGTCTTCTGAATGTCCCT	0.567									Ichthyosis				C	152283156	T	C	152283156	2	2	12	1	0	0	0	0	0	0	0	1	5922	1567	55	3		3	FLG	1	152283156	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	200770	152283156	96967465	62	10070											
CRNN	49860	broad.mit.edu	37	chr1	152383276	152383276	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttgagagccgcaggctccCtcagcactctcgctcagtgt	10	15	4	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:152383276C>A	uc001ezx.2	-	3	356	c.282G>T	c.(280-282)GAG>GAT	p.E94D		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	94					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCAGGCTCCCTCAGCACTCT	0.567													A	152383276	C	A	152383276	3	1	12	1	0	0	0	0	1	0	0	0	3892	680	24	5	1209	5	CRNN	1	152383276	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	100120	152383276	96867345	63	10071											
SPRR2E	6704	broad.mit.edu	37	chr1	153066064	153066064	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggggaaggtgtcacaggaGgacatttttgctggcactgc	16	7	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:153066064G>T	uc001fbh.2	-	2	225	c.164C>A	c.(163-165)CCT>CAT	p.P55H	SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron	NM_001024209	NP_001019380	P22531	SPR2E_HUMAN	small proline-rich protein 2E	55					keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity			ovary(1)	1	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTCACAGGAGGACATTTTTG	0.557													T	153066064	G	T	153066064	3	4	12	1	0	0	0	0	1	0	0	0	15099	1000	35	5	58	5	SPRR2E	1	153066064	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	682788	153066064	96184557	64	10072											
S100A16	140576	broad.mit.edu	37	chr1	153580105	153580105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactcatcgaagctgatgcGcccatcatgattggcatcca	9	12	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:153580105G>A	uc001fcc.2	-	3	350	c.217C>T	c.(217-219)CGC>TGC	p.R73C	S100A16_uc001fcd.1_Missense_Mutation_p.R73C	NM_080388	NP_525127	Q96FQ6	S10AG_HUMAN	S100 calcium binding protein A16	73	2; high affinity.|EF-hand 2.					cytosol|nucleolus	calcium ion binding|protein homodimerization activity				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAGCTGATGCGCCCATCATGA	0.577													A	153580105	G	A	153580105	3	1	12	1	0	0	0	0	1	0	0	0	13777	1087	38	1	98	1	S100A16	1	153580105	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	514041	153580105	95670516	65	10073											
ADAR	103	broad.mit.edu	37	chr1	154557360	154557360	+	Frame_Shift_Del	DEL	T	T	-													tagcccatatccttcaggccTtttttgaagtagttcttggc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:154557359_154557359CT>C	uc001ffh.3	-	14	3846	c.3604_3604AG>G	c.(3604-3606)ggcfs	p.G1202fs	ADAR_uc021pag.1_Frame_Shift_Del_p.G907fs|ADAR_uc001ffj.3_Frame_Shift_Del_p.G1157fs|ADAR_uc001ffi.3_Frame_Shift_Del_p.G1176fs|ADAR_uc001ffk.3_Frame_Shift_Del_p.G907fs	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	1202	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCCTTCAGGCCTTTTTTGAAG	0.493													-	154557360	T	-	154557360	7	5	12	1	0	1	0	1	0	0	0	0	281	1606	56	0	81	0	ADAR	1	154557360	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	977255	154557360	94693261	66	10074											
THBS3	7059	broad.mit.edu	37	chr1	155165843	155165843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagcagaatacaccaagaCgcccccctcgcatggatgtg	10	13	0	3	rs140469044		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:155165843C>T	uc001fix.2	-	22	2770	c.2747G>A	c.(2746-2748)CGT>CAT	p.R916H	RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Missense_Mutation_p.R907H|THBS3_uc001fiz.2_Missense_Mutation_p.R879H|THBS3_uc001fiy.2_Missense_Mutation_p.R445H|THBS3_uc010pfu.1_Missense_Mutation_p.R796H	NM_007112	NP_009043	P49746	TSP3_HUMAN	thrombospondin 3 precursor	916	TSP C-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(3)|ovary(2)	5	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TACACCAAGACGCCCCCCTCG	0.498													T	155165843	C	T	155165843	3	4	12	1	0	0	0	0	1	0	0	0	15852	536	19	1	131	1	THBS3	1	155165843	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	608483	155165843	94084778	67	10075											
GBA	2629	broad.mit.edu	37	chr1	155206085	155206085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgatcccaggagcctagcCgcacactctgctcccagaac	8	18	1	1	rs11558184		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:155206085C>T	uc001fjh.2	-	8	1325	c.1175G>A	c.(1174-1176)CGG>CAG	p.R392Q	RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Missense_Mutation_p.R279Q|GBA_uc010pfx.1_Missense_Mutation_p.R343Q|GBA_uc001fji.2_Missense_Mutation_p.R392Q|GBA_uc001fjj.2_Missense_Mutation_p.R392Q|GBA_uc001fjk.2_Missense_Mutation_p.R392Q|GBA_uc001fjl.2_Missense_Mutation_p.R392Q|GBA_uc010pfy.1_Missense_Mutation_p.R305Q	NM_000157	NP_000148	P04062	GLCM_HUMAN	glucocerebrosidase precursor	392			R -> G (in GD).|R -> W (in GD; 5% of normal activity).		carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			ovary(1)|skin(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GGAGCCTAGCCGCACACTCTG	0.592									Gaucher_disease_type_I				T	155206085	C	T	155206085	3	4	12	1	0	0	0	0	1	0	0	0	6266	652	23	1	451	1	GBA	1	155206085	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	40242	155206085	94044536	68	10076											
GBA	2629	broad.mit.edu	37	chr1	155206139	155206139	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcctctgaggcaaagagcAtggtgttggggaacaggcgg	18	7	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:155206139A>G	uc001fjh.2	-	8	1271	c.1121T>C	c.(1120-1122)ATG>ACG	p.M374T	RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Missense_Mutation_p.M261T|GBA_uc010pfx.1_Missense_Mutation_p.M325T|GBA_uc001fji.2_Missense_Mutation_p.M374T|GBA_uc001fjj.2_Missense_Mutation_p.M374T|GBA_uc001fjk.2_Missense_Mutation_p.M374T|GBA_uc001fjl.2_Missense_Mutation_p.M374T|GBA_uc010pfy.1_Missense_Mutation_p.M287T	NM_000157	NP_000148	P04062	GLCM_HUMAN	glucocerebrosidase precursor	374					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			ovary(1)|skin(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GGCAAAGAGCATGGTGTTGGG	0.562									Gaucher_disease_type_I				G	155206139	A	G	155206139	3	3	12	1	0	0	0	0	1	0	0	0	6266	217	8	3	505	3	GBA	1	155206139	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	54	155206139	94044482	69	10077											
ASH1L	55870	broad.mit.edu	37	chr1	155324299	155324299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcatctcggcagatcccaTtccaacgggtatataatgat	7	11	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:155324299T>C	uc009wqq.2	-	16	7673	c.7193A>G	c.(7192-7194)AAT>AGT	p.N2398S	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.N2393S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2398					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GCAGATCCCATTCCAACGGGT	0.318													C	155324299	T	C	155324299	3	2	12	1	0	0	0	0	1	0	0	0	1041	1493	52	3	1768	3	ASH1L	1	155324299	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	118160	155324299	93926322	70	10078											
ASH1L	55870	broad.mit.edu	37	chr1	155449753	155449753	+	Frame_Shift_Del	DEL	T	T	-													tccattgtttctcttggtaaTttttttatctggttccatct							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:155449752_155449752AT>A	uc009wqq.3	-	2	3389	c.2909_2909AT>T	c.(2908-2910)attfs	p.I970fs	ASH1L_uc001fkt.3_Frame_Shift_Del_p.I970fs|ASH1L_uc009wqr.1_Frame_Shift_Del_p.I970fs	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	970					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCTCTTGGTAATTTTTTTATC	0.353													-	155449753	T	-	155449753	7	5	12	1	0	1	0	1	0	0	0	0	1041	1493	52	0	6090	0	ASH1L	1	155449753	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	125454	155449753	93800868	71	10079											
ASH1L	55870	broad.mit.edu	37	chr1	155450116	155450116	+	Frame_Shift_Del	DEL	T	T	-													aaacactttagaagcagggaTttttaaagtccttttaggtg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:155450115_155450115AT>A	uc009wqq.3	-	2	3026	c.2546_2546AT>T	c.(2545-2547)atcfs	p.I849fs	ASH1L_uc001fkt.3_Frame_Shift_Del_p.I849fs|ASH1L_uc009wqr.1_Frame_Shift_Del_p.I849fs	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	849					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGAAGCAGGGATTTTTAAAGT	0.398													-	155450116	T	-	155450116	7	5	12	1	0	1	0	1	0	0	0	0	1041	1493	52	0	6453	0	ASH1L	1	155450116	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	363	155450116	93800505	72	10080											
SMG5	23381	broad.mit.edu	37	chr1	156230321	156230321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggagcgggggcaggttaCgaagagccatgtcctctggg	17	10	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:156230321C>T	uc001foc.3	-	15	2353	c.2204G>A	c.(2203-2205)CGT>CAT	p.R735H	SMG5_uc009wrv.2_Missense_Mutation_p.R220H	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	735					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					GGGCAGGTTACGAAGAGCCAT	0.562													T	156230321	C	T	156230321	3	4	12	1	0	0	0	0	1	0	0	0	14796	536	19	1	878	1	SMG5	1	156230321	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	780205	156230321	93020300	73	10081											
C1orf85	112770	broad.mit.edu	37	chr1	156264628	156264628	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccatcgggctcaggggaTagcaggaggctccagttgac	14	13	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:156264628T>C	uc001foh.2	-	2	313	c.300A>G	c.(298-300)CTA>CTG	p.L100L	C1orf85_uc001fof.3_5'Flank|C1orf85_uc001fog.1_RNA|C1orf85_uc001foi.2_Silent_p.L100L|C1orf85_uc009wrx.2_Silent_p.L100L|C1orf85_uc001foj.2_Intron	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN	kidney predominant protein NCU-G1 precursor	100	Lumenal (Potential).				positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)	2	Hepatocellular(266;0.158)					GCTCAGGGGATAGCAGGAGGC	0.592													C	156264628	T	C	156264628	2	2	12	1	0	0	0	0	0	0	0	1	2062	1393	49	3		3	C1orf85	1	156264628	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	34307	156264628	92985993	74	10082											
VHLL	391104	broad.mit.edu	37	chr1	156268937	156268937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgcctcctgggtgcccGcctgggcctctaaacccacc	11	19	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:156268937G>A	uc001fok.2	-	1	492	c.44C>T	c.(43-45)GCG>GTG	p.A15V		NM_001004319	NP_001004319	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	15					protein ubiquitination	nucleus				ovary(1)	1	Hepatocellular(266;0.158)					CTGGGTGCCCGCCTGGGCCTC	0.617													A	156268937	G	A	156268937	3	1	12	1	0	0	0	0	1	0	0	0	17160	1087	38	1	379	1	VHLL	1	156268937	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	4309	156268937	92981684	75	10083											
BCAN	63827	broad.mit.edu	37	chr1	156616821	156616821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgaggcctaccggttccGcgtggcactgcctgcgtacc	13	15	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:156616821G>A	uc001fpp.2	+	3	656	c.320G>A	c.(319-321)CGC>CAC	p.R107H	BCAN_uc001fpo.2_Missense_Mutation_p.R107H	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	107	Ig-like V-type.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TACCGGTTCCGCGTGGCACTG	0.677													A	156616821	G	A	156616821	3	1	12	1	0	0	0	0	1	0	0	0	1345	1087	38	1	326	1	BCAN	1	156616821	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	347884	156616821	92633800	76	10084											
BCAN	63827	broad.mit.edu	37	chr1	156622146	156622146	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagagaaagaggaggaAgaagaagaggaggaggtgga	20	0	0	6			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:156622146A>G	uc001fpp.2	+	8	1740	c.1404A>G	c.(1402-1404)GAA>GAG	p.E468E	BCAN_uc001fpo.2_Silent_p.E468E	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	468	Glu-rich.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					aagaggaggaagaagaagagg	0.398													G	156622146	A	G	156622146	2	3	12	1	0	0	0	0	0	0	0	1	1345	69	3	3		3	BCAN	1	156622146	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	5325	156622146	92628475	77	10085											
ARHGEF11	9826	broad.mit.edu	37	chr1	156909341	156909341	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acactcccatttattttaccTtttctcacaactttgtaacc	1	13	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:156909341T>C	uc001fqo.2	-	36	5015	c.3975A>G	c.(3973-3975)AAA>AAG	p.K1325K	ARHGEF11_uc010phu.1_Silent_p.K741K|ARHGEF11_uc001fqn.2_Silent_p.K1365K	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1325					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTATTTTACCTTTTCTCACAA	0.493													C	156909341	T	C	156909341	2	2	12	1	0	0	0	0	0	0	0	1	896	1623	56	3		3	ARHGEF11	1	156909341	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	287195	156909341	92341280	78	10086											
FCRL4	83417	broad.mit.edu	37	chr1	157548310	157548310	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctggatctcagagtatacCaaatctccctttttggggtg	10	9	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:157548310C>T	uc001fqw.2	-	10	1519	c.1383G>A	c.(1381-1383)TTG>TTA	p.L461L	FCRL4_uc010phy.1_RNA	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	461	Cytoplasmic (Potential).|ITIM motif 2.					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)|skin(1)	4	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CAGAGTATACCAAATCTCCCT	0.393													T	157548310	C	T	157548310	2	4	12	1	0	0	0	0	0	0	0	1	5797	593	21	4		4	FCRL4	1	157548310	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	638969	157548310	91702311	79	10087											
FCRL2	79368	broad.mit.edu	37	chr1	157738406	157738406	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgtacccccagccacTgagcagagcaggatcagttt	9	13	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:157738406T>C	uc001fre.2	-	5	740	c.681A>G	c.(679-681)TCA>TCG	p.S227S	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Silent_p.S227S|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	227	Ig-like C2-type 3.|Extracellular (Potential).				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCCCAGCCACTGAGCAGAGCA	0.532													C	157738406	T	C	157738406	2	2	12	1	0	0	0	0	0	0	0	1	5795	1567	55	3		3	FCRL2	1	157738406	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	190096	157738406	91512215	80	10088											
SPTA1	6708	broad.mit.edu	37	chr1	158615094	158615094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttcagggctagcatggtGcccactgtcgataagttctg	11	9	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:158615094G>A	uc001fst.1	-	29	4277	c.4078C>T	c.(4078-4080)CAC>TAC	p.H1360Y		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1360	Spectrin 13.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CTAGCATGGTGCCCACTGTCG	0.502													A	158615094	G	A	158615094	3	1	12	1	0	0	0	0	1	0	0	0	15115	1319	46	2	3277	2	SPTA1	1	158615094	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	876688	158615094	90635527	81	10089											
NHLH1	4807	broad.mit.edu	37	chr1	160340833	160340833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgcaagctgctgcctacGctgccccccgacaagaagct	10	17	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:160340833G>A	uc001fwa.2	+	2	754	c.312G>A	c.(310-312)ACG>ACA	p.T104T		NM_005598	NP_005589	Q02575	HEN1_HUMAN	nescient helix loop helix 1	104	Helix-loop-helix motif.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCTGCCTACGCTGCCCCCCG	0.597													A	160340833	G	A	160340833	2	1	12	1	0	0	0	0	0	0	0	1	10403	1074	38	1		1	NHLH1	1	160340833	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1725739	160340833	88909788	82	10090											
SLAMF7	57823	broad.mit.edu	37	chr1	160718187	160718187	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtagacttcccagatggaGgctactccctgaagctcagc	11	12	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:160718187G>T	uc001fwq.2	+	2	274	c.259G>T	c.(259-261)GGC>TGC	p.G87C	SLAMF7_uc010pjn.1_Intron|SLAMF7_uc001fws.2_Intron|SLAMF7_uc001fwr.2_Missense_Mutation_p.G87C|SLAMF7_uc010pjo.1_Missense_Mutation_p.G87C|SLAMF7_uc010pjp.1_Intron|SLAMF7_uc010pjq.1_Missense_Mutation_p.G87C|SLAMF7_uc010pjr.1_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	87	Extracellular (Potential).				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			skin(2)|ovary(1)	3	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCCAGATGGAGGCTACTCCCT	0.502													T	160718187	G	T	160718187	3	4	12	1	0	0	0	0	1	0	0	0	14369	1000	35	5	265	5	SLAMF7	1	160718187	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	377354	160718187	88532434	83	10091											
CD244	51744	broad.mit.edu	37	chr1	160803894	160803894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatgcaggttcttgtgacgTgggagcagaagactaatgag	14	5	1	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:160803894T>C	uc009wtq.2	-	7	1100	c.922A>G	c.(922-924)ACG>GCG	p.T308A	CD244_uc001fxa.2_Missense_Mutation_p.T303A|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Missense_Mutation_p.T211A	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	CD244 natural killer cell receptor 2B4	308	Cytoplasmic (Potential).				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCTTGTGACGTGGGAGCAGAA	0.433													C	160803894	T	C	160803894	3	2	12	1	0	0	0	0	1	0	0	0	2987	1696	59	3	202	3	CD244	1	160803894	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	85707	160803894	88446727	84	10092											
USF1	7391	broad.mit.edu	37	chr1	161011148	161011148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcctaggggcaattgagcGctggcttcctccctgcagta	12	12	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:161011148G>A	uc001fxi.2	-	7	721	c.526C>T	c.(526-528)CGC>TGC	p.R176C	F11R_uc010pjw.1_5'Flank|F11R_uc001fxf.3_5'Flank|TSTD1_uc010pjx.1_5'Flank|TSTD1_uc009wtw.2_5'Flank|TSTD1_uc001fxh.3_5'Flank|USF1_uc001fxj.2_Missense_Mutation_p.R117C	NM_007122	NP_009053	P22415	USF1_HUMAN	upstream stimulatory factor 1 isoform 1	176					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GCAATTGAGCGCTGGCTTCCT	0.438													A	161011148	G	A	161011148	3	1	12	1	0	0	0	0	1	0	0	0	17029	1087	38	1	426	1	USF1	1	161011148	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	207254	161011148	88239473	85	10093											
USP21	27005	broad.mit.edu	37	chr1	161134845	161134845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtataccagctgtatgccCtttgcaaccactcaggcagc	8	14	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:161134845C>T	uc010pke.1	+	13	1896	c.1519C>T	c.(1519-1521)CTT>TTT	p.L507F	USP21_uc010pkf.1_Missense_Mutation_p.L507F|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyn.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc001fyl.2_5'Flank|PPOX_uc001fym.2_5'Flank|PPOX_uc001fyk.2_5'Flank|PPOX_uc001fyh.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc009wuc.1_5'Flank|PPOX_uc010pkh.1_5'Flank|PPOX_uc001fyi.2_5'Flank	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21	507					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)|prostate(1)|breast(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCTGTATGCCCTTTGCAACCA	0.542													T	161134845	C	T	161134845	3	4	12	1	0	0	0	0	1	0	0	0	17050	681	24	4	1561	4	USP21	1	161134845	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	123697	161134845	88115776	86	10094											
HSPA6	3310	broad.mit.edu	37	chr1	161494672	161494672	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgttcgatgccaagcggcTgatcgggcgcaagttcgcgg	16	11	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:161494672T>C	uc001gap.2	+	2	884	c.224T>C	c.(223-225)CTG>CCG	p.L75P	HSPA6_uc001gaq.2_Missense_Mutation_p.L75P	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	75					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCAAGCGGCTGATCGGGCGC	0.677													C	161494672	T	C	161494672	3	2	12	1	0	0	0	0	1	0	0	0	7415	1580	55	3	226	3	HSPA6	1	161494672	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	359827	161494672	87755949	87	10095											
NUF2	83540	broad.mit.edu	37	chr1	163310207	163310207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaatatttcagagaaaacCaagcgtttggtaaacatctt	6	7	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:163310207C>T	uc001gcq.1	+	9	960	c.660C>T	c.(658-660)ACC>ACT	p.T220T	NUF2_uc001gcp.2_Silent_p.T220T|NUF2_uc001gcr.1_Silent_p.T220T|NUF2_uc009wvc.1_Silent_p.T220T	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	220	Interaction with the N-terminus of NDC80.|Potential.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			ovary(3)|skin(1)	4	all_hematologic(923;0.101)					CAGAGAAAACCAAGCGTTTGG	0.323													T	163310207	C	T	163310207	2	4	12	1	0	0	0	0	0	0	0	1	10747	581	21	4		4	NUF2	1	163310207	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1815535	163310207	85940414	88	10096											
MGST3	4259	broad.mit.edu	37	chr1	165623555	165623555	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttggcctggattgttggaCgagttctttatgcttatggc	13	7	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:165623555C>T	uc001gdf.2	+	5	377	c.289C>T	c.(289-291)CGA>TGA	p.R97*	MGST3_uc001gdg.2_Nonsense_Mutation_p.R111*	NM_004528	NP_004519	O14880	MGST3_HUMAN	microsomal glutathione S-transferase 3	97					leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glutathione peroxidase activity|glutathione transferase activity				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	GATTGTTGGACGAGTTCTTTA	0.353													T	165623555	C	T	165623555	4	4	12	1	0	0	0	0	0	1	0	0	9562	528	19	1	303	1	MGST3	1	165623555	Nonsense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2313348	165623555	83627066	89	10097											
DCAF6	55827	broad.mit.edu	37	chr1	167971802	167971802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcaaggccggagagtgaacGagaacgagatggtaactata	14	6	0	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:167971802G>A	uc001gew.2	+	8	1228	c.986G>A	c.(985-987)CGA>CAA	p.R329Q	DCAF6_uc001gev.2_Missense_Mutation_p.R329Q|DCAF6_uc001gex.2_Missense_Mutation_p.R329Q|DCAF6_uc010plk.1_Missense_Mutation_p.R298Q|DCAF6_uc001gey.2_Missense_Mutation_p.R182Q	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform b	329					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GAGAGTGAACGAGAACGAGAT	0.338													A	167971802	G	A	167971802	3	1	12	1	0	0	0	0	1	0	0	0	4274	1058	37	1	1016	1	DCAF6	1	167971802	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2348247	167971802	81278819	90	10098											
GPR161	23432	broad.mit.edu	37	chr1	168054869	168054869	+	Frame_Shift_Del	DEL	C	C	-													ctcggcggcccccgaagccgCcccccgggacagtccgtgct							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:168054868_168054868GC>G	uc010pln.2	-	6	2085	c.1551_1551GC>C	c.(1549-1551)ggcfs	p.G517fs	GPR161_uc001gfb.3_Frame_Shift_Del_p.G365fs|GPR161_uc001gfc.3_Frame_Shift_Del_p.G497fs|GPR161_uc010pll.2_Frame_Shift_Del_p.G407fs|GPR161_uc010plm.2_Frame_Shift_Del_p.G383fs|GPR161_uc009wvo.3_Frame_Shift_Del_p.G514fs|GPR161_uc001gfd.3_Frame_Shift_Del_p.G497fs	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	497					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCCCGAAGCCGCCCCCCGGGA	0.582													-	168054869	C	-	168054869	7	5	12	1	0	1	0	1	0	0	0	0	6665	739	26	0	103	0	GPR161	1	168054869	Frame_Shift_Del	DEL	C	TCGA-BR-4257-01A-01D-1126-08	83067	168054869	81195752	91	10099											
F5	2153	broad.mit.edu	37	chr1	169494110	169494112	+	In_Frame_Del	DEL	ATG	ATG	-													ccttgatctgtgaatcagatAtgataccagtgcttagtccc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:169494109_169494111TATG>T	uc001ggg.1	-	18	5897_5899	c.5752_5754CATA>A	c.(5752-5754)ata>A	p.I1918del		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1918	F5/8 type C 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTGAATCAGATATGATACCAGTG	0.374													-	169494112	ATG	-	169494110	7	5	12	1	0	1	0	1	0	0	0	0	5348	449	16	0	949	0	F5	1	169494110	In_Frame_Del	DEL	ATG	TCGA-BR-4257-01A-01D-1126-08	1439241	169494110	79756511	92	10100											
METTL13	51603	broad.mit.edu	37	chr1	171763553	171763553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacggccttgctacgatGtcataatgtttgatgttgac	10	9	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:171763553G>A	uc001ghz.2	+	7	2058	c.1711G>A	c.(1711-1713)GTC>ATC	p.V571I	METTL13_uc001gia.2_Missense_Mutation_p.V485I|METTL13_uc001gib.2_Missense_Mutation_p.V415I|METTL13_uc010pml.1_Missense_Mutation_p.V570I|METTL13_uc001gic.1_5'Flank	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN	CGI-01 protein isoform 1	571							methyltransferase activity|protein binding			kidney(1)	1						TTGCTACGATGTCATAATGTT	0.418													A	171763553	G	A	171763553	3	1	12	1	0	0	0	0	1	0	0	0	9497	1377	48	4	1737	4	METTL13	1	171763553	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2269443	171763553	77487068	93	10101											
TNR	7143	broad.mit.edu	37	chr1	175325505	175325505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgagaggtccattggtgGcatacatggtggcagtatag	16	5	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:175325505G>A	uc001gkp.1	-	14	3149	c.3068C>T	c.(3067-3069)GCC>GTC	p.A1023V	TNR_uc009wwu.1_Missense_Mutation_p.A1023V	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1023	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					TCCATTGGTGGCATACATGGT	0.512													A	175325505	G	A	175325505	3	1	12	1	0	0	0	0	1	0	0	0	16335	1203	42	2	1040	2	TNR	1	175325505	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	3561952	175325505	73925116	94	10102											
RASAL2	9462	broad.mit.edu	37	chr1	178427415	178427415	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acggtgccagatagacacatAcctcttgctttgccacgaca	8	13	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:178427415A>G	uc001glr.2	+	12	2690	c.2565A>G	c.(2563-2565)ATA>ATG	p.I855M	RASAL2_uc001glq.2_Missense_Mutation_p.I996M|RASAL2_uc009wxc.2_Missense_Mutation_p.I369M	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	855					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						ATAGACACATACCTCTTGCTT	0.552													G	178427415	A	G	178427415	3	3	12	1	0	0	0	0	1	0	0	0	13064	381	14	3	3080	3	RASAL2	1	178427415	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	3101910	178427415	70823206	95	10103											
MR1	3140	broad.mit.edu	37	chr1	181021588	181021588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatcctcagagcagcaaCctttactcctgtcatgtgga	8	12	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:181021588C>T	uc001goq.1	+	4	827	c.822C>T	c.(820-822)AAC>AAT	p.N274N	MR1_uc001gor.1_Silent_p.N229N|MR1_uc001gos.1_Intron|MR1_uc010pns.1_Intron	NM_001531	NP_001522	Q95460	HMR1_HUMAN	major histocompatibility complex, class	274	Extracellular (Potential).|Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			skin(1)	1						AGAGCAGCAACCTTTACTCCT	0.522													T	181021588	C	T	181021588	2	4	12	1	0	0	0	0	0	0	0	1	9752	506	18	4		4	MR1	1	181021588	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2594173	181021588	68229033	96	10104											
LAMC2	3918	broad.mit.edu	37	chr1	183190061	183190061	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgcagctctgcagaatAcagtgtccataagatcacct	8	13	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:183190061A>G	uc001gqa.2	+	5	919	c.605A>G	c.(604-606)TAC>TGC	p.Y202C	LAMC2_uc001gpz.3_Missense_Mutation_p.Y202C|LAMC2_uc010poa.1_Translation_Start_Site	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	202					cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						TCTGCAGAATACAGTGTCCAT	0.448													G	183190061	A	G	183190061	3	3	12	1	0	0	0	0	1	0	0	0	8615	391	14	3	623	3	LAMC2	1	183190061	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2168473	183190061	66060560	97	10105											
NCF2	4688	broad.mit.edu	37	chr1	183533152	183533152	+	Frame_Shift_Del	DEL	T	T	-													aatgttaccttaggctcttcTttttgtttctggcctgaatg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:183533151_183533151CT>C	uc001gqj.4	-	10	1290	c.1015_1015AG>G	c.(1015-1017)gaafs	p.E339fs	NCF2_uc010pod.2_Frame_Shift_Del_p.E294fs|NCF2_uc010poe.2_Frame_Shift_Del_p.E258fs|NCF2_uc001gqk.4_Frame_Shift_Del_p.E339fs	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	339					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TTAGGCTCTTCTTTTTGTTTC	0.433													-	183533152	T	-	183533152	7	5	12	1	0	1	0	1	0	0	0	0	10217	1606	56	0	586	0	NCF2	1	183533152	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	343091	183533152	65717469	98	10106											
RGL1	23179	broad.mit.edu	37	chr1	183857685	183857685	+	Frame_Shift_Del	DEL	A	A	-													tctaattccatctatcggttAaaaaagacttgggctgccgt							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:183857684_183857684TA>T	uc001gqm.3	+	8	1594	c.1133_1133TA>T	c.(1132-1134)ttafs	p.L378fs	RGL1_uc010pof.1_Frame_Shift_Del_p.L148fs|RGL1_uc010pog.2_Frame_Shift_Del_p.L341fs|RGL1_uc010poh.2_Frame_Shift_Del_p.L341fs|RGL1_uc001gqo.3_Frame_Shift_Del_p.L343fs|RGL1_uc010poi.2_Frame_Shift_Del_p.L343fs	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	343	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						ATCTATCGGTTAAAAAAGACT	0.458													-	183857685	A	-	183857685	7	5	12	1	0	1	0	1	0	0	0	0	13276	359	13	0	1164	0	RGL1	1	183857685	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	324533	183857685	65392936	99	10107											
HMCN1	83872	broad.mit.edu	37	chr1	185964206	185964206	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgatgaaacagagataacGctacatgtccaaggtgattc	9	8	0	4	rs112519612		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:185964206G>A	uc001grq.1	+	24	3994	c.3765G>A	c.(3763-3765)ACG>ACA	p.T1255T		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1255	Ig-like C2-type 9.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CAGAGATAACGCTACATGTCC	0.428													A	185964206	G	A	185964206	2	1	12	1	0	0	0	0	0	0	0	1	7220	1074	38	1		1	HMCN1	1	185964206	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2106521	185964206	63286415	100	10108											
PRG4	10216	broad.mit.edu	37	chr1	186276818	186276818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaccacccctgaggagcCcacacccaccacccctgagg	7	22	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:186276818C>T	uc001gru.3	+	7	2018	c.1967C>T	c.(1966-1968)CCC>CTC	p.P656L	PRG4_uc001grt.3_Missense_Mutation_p.P615L|PRG4_uc009wyl.2_Missense_Mutation_p.P563L|PRG4_uc009wym.2_Missense_Mutation_p.P522L|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	656	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CCTGAGGAGCCCACACCCACC	0.677													T	186276818	C	T	186276818	3	4	12	1	0	0	0	0	1	0	0	0	12481	623	22	4	1989	4	PRG4	1	186276818	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	312612	186276818	62973803	101	10109											
TPR	7175	broad.mit.edu	37	chr1	186300667	186300667	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaatcctggttgtataccTgagtctctacctctccatca	7	12	3	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:186300667T>C	uc001grv.2	-	39	5948	c.5651A>G	c.(5650-5652)CAG>CGG	p.Q1884R		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1884					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GTTGTATACCTGAGTCTCTAC	0.363			T	NTRK1	papillary thyroid								C	186300667	T	C	186300667	3	2	12	1	0	0	0	0	1	0	0	0	16413	1580	55	3	1492	3	TPR	1	186300667	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	23849	186300667	62949954	102	10110											
TROVE2	6738	broad.mit.edu	37	chr1	193050593	193050593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcaacgctagtacagttGctgcagcaatgtgcatggtg	11	9	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:193050593G>A	uc001gss.2	+	6	1361	c.1186G>A	c.(1186-1188)GCT>ACT	p.A396T	TROVE2_uc001gst.1_Missense_Mutation_p.A121T|TROVE2_uc001gsu.1_Missense_Mutation_p.A121T|TROVE2_uc001gsv.1_Missense_Mutation_p.A396T|TROVE2_uc001gsw.2_Missense_Mutation_p.A396T|TROVE2_uc009wyp.2_Missense_Mutation_p.A396T|TROVE2_uc009wyq.2_Missense_Mutation_p.A396T|TROVE2_uc001gsx.1_Missense_Mutation_p.A396T	NM_004600	NP_004591	P10155	RO60_HUMAN	TROVE domain family, member 2 isoform 2	396					transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding				0						TAGTACAGTTGCTGCAGCAAT	0.363													A	193050593	G	A	193050593	3	1	12	1	0	0	0	0	1	0	0	0	16573	1319	46	2	1204	2	TROVE2	1	193050593	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	6749926	193050593	56200028	103	10111											
ASPM	259266	broad.mit.edu	37	chr1	197091176	197091176	+	Splice_Site	DEL	A	A	-													caaataggtaataaccacctAaaaaaaacccacaaaagata							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:197091175_197091175TA>T	uc001gtu.3	-	16	3999	c.3742_splice	c.e16-1	p.V1248_splice	ASPM_uc001gtv.3_Splice_Site_p.V1248_splice|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1248					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATAACCACCTAAAAAAAACC	0.303													-	197091176	A	-	197091176	8	5	12	1	0	1	0	1	0	0	1	0	1056	377	13	0		0	ASPM	1	197091176	Splice_Site	DEL	A	TCGA-BR-4257-01A-01D-1126-08	4040583	197091176	52159445	104	10112											
PTPRC	5788	broad.mit.edu	37	chr1	198682089	198682089	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attcttttaacaggtccaggAgagcctcagattattttttg	8	7	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:198682089A>T	uc001gur.1	+	12	1353	c.1173A>T	c.(1171-1173)GGA>GGT	p.G391G	PTPRC_uc001gus.1_Silent_p.G343G|PTPRC_uc001gut.1_Silent_p.G230G|PTPRC_uc009wzf.1_Silent_p.G279G|PTPRC_uc010ppg.1_Silent_p.G327G	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	391	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						CAGGTCCAGGAGAGCCTCAGA	0.318													T	198682089	A	T	198682089	2	4	12	1	0	0	0	0	0	0	0	1	12797	291	11	5		5	PTPRC	1	198682089	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1590913	198682089	50568532	105	10113											
ZNF281	23528	broad.mit.edu	37	chr1	200376939	200376939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgaggtgtgtaaatccactCgtggttctgcaatattgaaa	10	7	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:200376939C>T	uc001gve.2	-	2	2002	c.1895G>A	c.(1894-1896)CGA>CAA	p.R632Q	ZNF281_uc001gvf.1_Missense_Mutation_p.R632Q|ZNF281_uc001gvg.1_Missense_Mutation_p.R596Q	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	632					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)	2						TAAATCCACTCGTGGTTCTGC	0.393													T	200376939	C	T	200376939	3	4	12	1	0	0	0	0	1	0	0	0	17815	884	31	1	796	1	ZNF281	1	200376939	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1694850	200376939	48873682	106	10114											
DDX59	83479	broad.mit.edu	37	chr1	200628222	200628222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctttattatatccagaagtCgcccaggggttgctatgata	10	8	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:200628222C>T	uc009wzk.2	-	4	1238	c.995G>A	c.(994-996)CGA>CAA	p.R332Q	DDX59_uc010ppl.1_Missense_Mutation_p.R332Q	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	332	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			ovary(2)|breast(1)|central_nervous_system(1)	4						ATCCAGAAGTCGCCCAGGGGT	0.279													T	200628222	C	T	200628222	3	4	12	1	0	0	0	0	1	0	0	0	4376	884	31	1	884	1	DDX59	1	200628222	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	251283	200628222	48622399	107	10115											
CAMSAP1L1	23271	broad.mit.edu	37	chr1	200801853	200801853	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatatttgtttgaaagaaacTatgtctttggctgatagcct	9	5	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:200801853T>C	uc001gvl.2	+	7	1110	c.840T>C	c.(838-840)ACT>ACC	p.T280T	CAMSAP1L1_uc001gvk.2_Silent_p.T269T|CAMSAP1L1_uc001gvm.2_Silent_p.T269T	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	280	CH.					cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TGAAAGAAACTATGTCTTTGG	0.328													C	200801853	T	C	200801853	2	2	12	1	0	0	0	0	0	0	0	1	2612	1509	53	3		3	CAMSAP1L1	1	200801853	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	173631	200801853	48448768	108	10116											
C1orf106	55765	broad.mit.edu	37	chr1	200867455	200867455	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggggaagctccaggctacCtacacaacctggcccaggct	11	15	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:200867455C>A	uc001gvo.2	+	2	212	c.182C>A	c.(181-183)CCT>CAT	p.P61H	C1orf106_uc010ppm.1_5'UTR	NM_018265	NP_060735	Q3KP66	CA106_HUMAN	hypothetical protein LOC55765 isoform 1	61										skin(2)|ovary(1)	3						TCCAGGCTACCTACACAACCT	0.493													A	200867455	C	A	200867455	3	1	12	1	0	0	0	0	1	0	0	0	1980	681	24	5	188	5	C1orf106	1	200867455	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	65602	200867455	48383166	109	10117											
CACNA1S	779	broad.mit.edu	37	chr1	201079310	201079312	+	In_Frame_Del	DEL	GTT	GTT	-													accaggccgaggttcagagaGttgttgtcatcttccggcat							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:201079309_201079311AGTT>A	uc001gvv.3	-	1	466_468	c.239_241AACT>T	c.(238-243)aactct>aTct	p.80_81NS>I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	80					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGGTTCAGAGAGTTGTTGTCATC	0.601													-	201079312	GTT	-	201079310	7	5	12	1	0	1	0	1	0	0	0	0	2547	1020	36	0	5553	0	CACNA1S	1	201079310	In_Frame_Del	DEL	GTT	TCGA-BR-4257-01A-01D-1126-08	211855	201079310	48171311	110	10118											
CHI3L1	1116	broad.mit.edu	37	chr1	203149635	203149635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctgcctccttggtgaacCggcctggaattcccggtcct	10	16	0	1	rs76446715	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:203149635C>T	uc001gzi.2	-	8	1028	c.857G>A	c.(856-858)CGG>CAG	p.R286Q	FMOD_uc010pqi.1_Intron|CHI3L1_uc001gzk.1_Intron|CHI3L1_uc001gzj.2_Intron|CHI3L1_uc001gzl.3_5'Flank	NM_001276	NP_001267	P36222	CH3L1_HUMAN	chitinase 3-like 1 precursor	286					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			pancreas(1)	1						CTTGGTGAACCGGCCTGGAAT	0.582													T	203149635	C	T	203149635	3	4	12	1	0	0	0	0	1	0	0	0	3340	652	23	1	306	1	CHI3L1	1	203149635	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2070325	203149635	46100986	111	10119											
FMOD	2331	broad.mit.edu	37	chr1	203317092	203317092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacttcatgcgggagggaaCgaagggcaggtacttgaggt	16	6	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:203317092C>T	uc001gzr.2	-	2	443	c.307G>A	c.(307-309)GTT>ATT	p.V103I	FMOD_uc010pqi.1_RNA	NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	103	LRRNT.				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.171)			CGGGAGGGAACGAAGGGCAGG	0.577													T	203317092	C	T	203317092	3	4	12	1	0	0	0	0	1	0	0	0	5959	536	19	1	831	1	FMOD	1	203317092	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	167457	203317092	45933529	112	10120											
PIK3C2B	5287	broad.mit.edu	37	chr1	204438278	204438278	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accccagtaggcgcccctgaCccccacctcccagcacctct	6	23	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:204438278C>G	uc001haw.2	-	3	1132	c.653G>C	c.(652-654)GGT>GCT	p.G218A	PIK3C2B_uc010pqv.1_Missense_Mutation_p.G218A|PIK3C2B_uc001hax.1_Missense_Mutation_p.G218A|PIK3C2B_uc009xbd.1_RNA	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	218	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCGCCCCTGACCCCCACCTCC	0.517													G	204438278	C	G	204438278	3	3	12	1	0	0	0	0	1	0	0	0	11910	507	18	5	4379	5	PIK3C2B	1	204438278	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1121186	204438278	44812343	113	10121											
NFASC	23114	broad.mit.edu	37	chr1	204985644	204985644	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaggccacgtcacctgtcAatgctatctactctctggcc	8	15	4	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:204985644A>G	uc001hbj.2	+	30	4028	c.3700A>G	c.(3700-3702)AAT>GAT	p.N1234D	NFASC_uc010pra.1_Missense_Mutation_p.N1168D|NFASC_uc001hbi.2_Missense_Mutation_p.N1163D|NFASC_uc010prb.1_Missense_Mutation_p.N1183D|NFASC_uc010prc.1_Missense_Mutation_p.N734D|NFASC_uc001hbl.1_Missense_Mutation_p.N310D|NFASC_uc001hbm.1_Missense_Mutation_p.N257D|NFASC_uc009xbh.1_Silent_p.S88S|NFASC_uc001hbo.1_Silent_p.S109S	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	1341	Cytoplasmic (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GTCACCTGTCAATGCTATCTA	0.547													G	204985644	A	G	204985644	3	3	12	1	0	0	0	0	1	0	0	0	10359	130	5	3	4223	3	NFASC	1	204985644	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	547366	204985644	44264977	114	10122											
CNTN2	6900	broad.mit.edu	37	chr1	205041113	205041113	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggacaaagaagcagctgcGgaccgagtgaggacagcagg	18	8	0	2	rs115143667	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:205041113G>A	uc001hbr.2	+	20	2852	c.2583G>A	c.(2581-2583)GCG>GCA	p.A861A	CNTN2_uc001hbq.1_Silent_p.A752A|CNTN2_uc001hbs.2_Silent_p.A649A	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	861	Fibronectin type-III 3.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAGCAGCTGCGGACCGAGTGA	0.632													A	205041113	G	A	205041113	2	1	12	1	0	0	0	0	0	0	0	1	3641	1103	39	1		1	CNTN2	1	205041113	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	55469	205041113	44209508	115	10123											
DSTYK	25778	broad.mit.edu	37	chr1	205116774	205116774	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggagcatgggctggacaAtgcccaagagaggcctcttc	13	12	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:205116774A>G	uc001hbw.2	-	13	2766	c.2702T>C	c.(2701-2703)ATT>ACT	p.I901T	DSTYK_uc001hbx.2_Missense_Mutation_p.I856T	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	901	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						GGGCTGGACAATGCCCAAGAG	0.537													G	205116774	A	G	205116774	3	3	12	1	0	0	0	0	1	0	0	0	4785	101	4	3	91	3	DSTYK	1	205116774	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	75661	205116774	44133847	116	10124											
TMCC2	9911	broad.mit.edu	37	chr1	205211172	205211172	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgaaggcatcggggacaaGgtgagatgggccttctgggg	19	8	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:205211172G>T	uc001hbz.1	+	3	1191	c.747G>T	c.(745-747)AAG>AAT	p.K249N	TMCC2_uc010prf.1_Missense_Mutation_p.K171N	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	249				TALLLADGSNVYLLAEEAEGIGDK -> MNQVVQPLMSRHS ACRGSQAHLSW (in Ref. 6).		integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TCGGGGACAAGGTGAGATGGG	0.682													T	205211172	G	T	205211172	3	4	12	1	0	0	0	0	1	0	0	0	15990	1014	35	5	753	5	TMCC2	1	205211172	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	94398	205211172	44039449	117	10125											
PFKFB2	5208	broad.mit.edu	37	chr1	207241025	207241025	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggaagattgggggtgacTctggcctctcggtgcgggga	20	7	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:207241025T>G	uc001hfg.2	+	9	923	c.814T>G	c.(814-816)TCT>GCT	p.S272A	PFKFB2_uc010psc.1_Missense_Mutation_p.S174A|PFKFB2_uc001hfh.2_Missense_Mutation_p.S272A|PFKFB2_uc009xcc.2_Missense_Mutation_p.S230A|PFKFB2_uc010psd.1_Missense_Mutation_p.S86A	NM_006212	NP_006203	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,	272	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			ovary(1)	1	Prostate(682;0.19)					TGGGGGTGACTCTGGCCTCTC	0.478													G	207241025	T	G	207241025	3	3	12	1	0	0	0	0	1	0	0	0	11761	1551	54	5	844	5	PFKFB2	1	207241025	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	2029853	207241025	42009596	118	10126											
CR2	1380	broad.mit.edu	37	chr1	207642044	207642044	+	Frame_Shift_Del	DEL	C	C	-													tcgggaaaatggagtgctgtCccccccacatgtgaaggtac							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:207642043_207642043TC>T	uc001hfw.3	+	2	736	c.617_617TC>T	c.(616-618)gtcfs	p.V206fs	CR2_uc001hfv.3_Frame_Shift_Del_p.V206fs|CR2_uc009xch.3_Frame_Shift_Del_p.V206fs|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACA	0.393													-	207642044	C	-	207642044	7	5	12	1	0	1	0	1	0	0	0	0	3842	842	30	0	628	0	CR2	1	207642044	Frame_Shift_Del	DEL	C	TCGA-BR-4257-01A-01D-1126-08	401019	207642044	41608577	119	10127											
CR1	1378	broad.mit.edu	37	chr1	207679272	207679272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgcaatgccccagaatggCttccatttgccaggcctacc	8	14	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:207679272C>T	uc001hfy.2	+	2	285	c.145C>T	c.(145-147)CTT>TTT	p.L49F	CR1_uc009xcl.1_Missense_Mutation_p.L49F|CR1_uc001hfx.2_Missense_Mutation_p.L49F|CR1_uc010psg.1_Missense_Mutation_p.L49F|CR1_uc009xcj.1_Missense_Mutation_p.L49F|CR1_uc009xck.1_Missense_Mutation_p.L49F	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	49	Sushi 1.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						CCCAGAATGGCTTCCATTTGC	0.388													T	207679272	C	T	207679272	3	4	12	1	0	0	0	0	1	0	0	0	3840	797	28	2	151	2	CR1	1	207679272	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	37228	207679272	41571349	120	10128											
USH2A	7399	broad.mit.edu	37	chr1	215812576	215812576	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgcagatgacctggaaaaaGaaggctagacaaaaggaaga	13	5	0	5			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:215812576G>T	uc001hku.1	-	69	15360	c.14973C>A	c.(14971-14973)TTC>TTA	p.F4991L		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4991	Fibronectin type-III 35.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTGGAAAAAGAAGGCTAGAC	0.388										HNSCC(13;0.011)			T	215812576	G	T	215812576	3	4	12	1	0	0	0	0	1	0	0	0	17033	933	33	5	651	5	USH2A	1	215812576	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	8133304	215812576	33438045	121	10129											
USH2A	7399	broad.mit.edu	37	chr1	215814033	215814033	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccagttcacacacaccacAgacaaattgctgtccaccga	5	16	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:215814033A>C	uc001hku.1	-	68	15222	c.14835T>G	c.(14833-14835)TCT>TCG	p.S4945S		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4945	Fibronectin type-III 35.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACACACCACAGACAAATTGC	0.527										HNSCC(13;0.011)			C	215814033	A	C	215814033	2	2	12	1	0	0	0	0	0	0	0	1	17033	175	7	5		5	USH2A	1	215814033	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1457	215814033	33436588	122	10130											
USH2A	7399	broad.mit.edu	37	chr1	215847625	215847625	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaagatctcctgaggacccCtggcctgcaattttggaggt	11	11	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:215847625C>A	uc001hku.1	-	63	14015	c.13628G>T	c.(13627-13629)AGG>ATG	p.R4543M		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4543	Fibronectin type-III 31.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGAGGACCCCTGGCCTGCAA	0.488										HNSCC(13;0.011)			A	215847625	C	A	215847625	3	1	12	1	0	0	0	0	1	0	0	0	17033	681	24	5	2020	5	USH2A	1	215847625	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	33592	215847625	33402996	123	10131											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220363814	220363814	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtggctgccaactctgActggtaacattatttaaacc	8	10	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:220363814A>G	uc010puk.1	-	15	1700	c.1536T>C	c.(1534-1536)AGT>AGC	p.S512S	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Silent_p.S92S	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	512					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)		GCCAACTCTGACTGGTAACAT	0.393													G	220363814	A	G	220363814	2	3	12	1	0	0	0	0	0	0	0	1	12936	272	10	3		3	RAB3GAP2	1	220363814	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	4516189	220363814	28886807	124	10132											
MOSC2	54996	broad.mit.edu	37	chr1	220928413	220928413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctccagacatggaccagCtggttttgcctagcaagcag	13	11	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:220928413C>T	uc001hmq.2	+	2	595	c.397C>T	c.(397-399)CTG>TTG	p.L133L	MOSC2_uc001hmr.2_Silent_p.L133L|MOSC2_uc009xdx.2_Silent_p.L133L	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN	MOCO sulphurase C-terminal domain containing 2	133						mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding				0				GBM - Glioblastoma multiforme(131;0.00499)|all cancers(67;0.204)		CATGGACCAGCTGGTTTTGCC	0.532													T	220928413	C	T	220928413	2	4	12	1	0	0	0	0	0	0	0	1	9714	796	28	2		2	MOSC2	1	220928413	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	564599	220928413	28322208	125	10133											
MIA3	375056	broad.mit.edu	37	chr1	222832844	222832845	+	Frame_Shift_Ins	INS	-	-	T													acagaagacagagcggtcatINSttaaaaaccaggtaataatt							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:222832843_222832844A>AT	uc001hnl.3	+	19	4767_4768	c.4758_4759A>AT	c.(4756-4761)tcatttfs	p.S1586fs	MIA3_uc001hnm.3_Frame_Shift_Ins_p.S464fs	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1586					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CAGAGCGGTCATTTAAAAACCA	0.342													T	222832845	-	T	222832844	7	5	12	1	0	1	1	0	0	0	0	0	9565	1493	52	0	4837	0	MIA3	1	222832844	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	1904431	222832844	26417777	126	10134											
NVL	4931	broad.mit.edu	37	chr1	224424208	224424208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaagatttaaacacttacGtatagcaatcacagcgaagg	7	8	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:224424208G>A	uc001hok.2	-	20	2409	c.2366C>T	c.(2365-2367)ACG>ATG	p.T789M	NVL_uc001hol.2_Missense_Mutation_p.T683M|NVL_uc010pvd.1_Missense_Mutation_p.T698M|NVL_uc010pve.1_Missense_Mutation_p.T600M|NVL_uc010pvf.1_RNA	NM_002533	NP_002524	O15381	NVL_HUMAN	nuclear VCP-like isoform 1	789						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			skin(2)	2				GBM - Glioblastoma multiforme(131;0.00501)		AAACACTTACGTATAGCAATC	0.219													A	224424208	G	A	224424208	3	1	12	1	0	0	0	0	1	0	0	0	10780	1159	40	1	220	1	NVL	1	224424208	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1591364	224424208	24826413	127	10135											
EPHX1	2052	broad.mit.edu	37	chr1	226027630	226027630	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgggaggtttcttggcctcActgagagggatgtggagctg	17	7	2	1	rs35073925	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:226027630A>G	uc001hpk.2	+	6	903	c.823A>G	c.(823-825)ACT>GCT	p.T275A	EPHX1_uc001hpl.2_Missense_Mutation_p.T275A	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	epoxide hydrolase 1	275					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			ovary(3)|lung(1)	4	Breast(184;0.197)					TCTTGGCCTCACTGAGAGGGA	0.547													G	226027630	A	G	226027630	3	3	12	1	0	0	0	0	1	0	0	0	5179	159	6	3	841	3	EPHX1	1	226027630	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1603422	226027630	23222991	128	10136											
C1orf55	163859	broad.mit.edu	37	chr1	226175749	226175749	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggctcctcttctatgggttCtttactctctgccttcttct	7	13	6	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:226175749C>A	uc001hpu.3	-	6	1035	c.982G>T	c.(982-984)GAA>TAA	p.E328*	C1orf55_uc001hpv.2_Nonsense_Mutation_p.E328*	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	hypothetical protein LOC163859	328										lung(1)	1	Breast(184;0.197)					TCTATGGGTTCTTTACTCTCT	0.493													A	226175749	C	A	226175749	4	1	12	1	0	0	0	0	0	1	0	0	2047	922	32	5	381	5	C1orf55	1	226175749	Nonsense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	148119	226175749	23074872	129	10137											
LIN9	286826	broad.mit.edu	37	chr1	226426761	226426761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaattgttgcatatctccGctgaaattcaatgctgatgg	8	8	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:226426761G>A	uc001hqa.2	-	12	1514	c.1204C>T	c.(1204-1206)CGG>TGG	p.R402W	LIN9_uc001hqb.2_Missense_Mutation_p.R367W|LIN9_uc001hqc.2_Missense_Mutation_p.R334W|LIN9_uc009xel.1_Missense_Mutation_p.R367W	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	lin-9 homolog	386	Potential.				cell cycle|DNA replication	nucleoplasm					0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		GCATATCTCCGCTGAAATTCA	0.348													A	226426761	G	A	226426761	3	1	12	1	0	0	0	0	1	0	0	0	8813	1086	38	1	488	1	LIN9	1	226426761	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	251012	226426761	22823860	130	10138											
TAF5L	27097	broad.mit.edu	37	chr1	229737984	229737984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaatggatgcgggacacGtctacttggtggggctctga	15	9	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:229737984G>A	uc001htq.2	-	4	1096	c.930C>T	c.(928-930)GAC>GAT	p.D310D	TAF5L_uc001htr.2_Silent_p.D310D	NM_014409	NP_055224	O75529	TAF5L_HUMAN	PCAF associated factor 65 beta isoform a	310					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			ovary(1)	1	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TGCGGGACACGTCTACTTGGT	0.463													A	229737984	G	A	229737984	2	1	12	1	0	0	0	0	0	0	0	1	15526	1136	40	1		1	TAF5L	1	229737984	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	3311223	229737984	19512637	131	10139											
C1orf124	83932	broad.mit.edu	37	chr1	231488454	231488454	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taccttcacctgggaaactgAtcacttcacatgccattaat	5	12	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:231488454A>T	uc001hur.2	+	5	1265	c.817A>T	c.(817-819)ATC>TTC	p.I273F	C1orf124_uc001hus.2_3'UTR|C1orf124_uc001hut.2_3'UTR	NM_032018	NP_114407	Q9H040	CA124_HUMAN	hypothetical protein LOC83932 isoform a	273					DNA repair	nuclear speck	DNA binding|metal ion binding				0	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TGGGAAACTGATCACTTCACA	0.373													T	231488454	A	T	231488454	3	4	12	1	0	0	0	0	1	0	0	0	1992	333	12	5	870	5	C1orf124	1	231488454	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1750470	231488454	17762167	132	10140											
PCNXL2	80003	broad.mit.edu	37	chr1	233120166	233120166	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagcctcagccagacatcGgtcatgaagctgcccctgct	9	16	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:233120166G>A	uc001hvl.2	-	34	6533	c.6298C>T	c.(6298-6300)CGA>TGA	p.R2100*	PCNXL2_uc001hvk.1_3'UTR|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	2100						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				GCCAGACATCGGTCATGAAGC	0.597													A	233120166	G	A	233120166	4	1	12	1	0	0	0	0	0	1	0	0	11592	1124	39	1	119	1	PCNXL2	1	233120166	Nonsense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1631712	233120166	16130455	133	10141											
SLC35F3	148641	broad.mit.edu	37	chr1	234444893	234444893	+	Frame_Shift_Del	DEL	T	T	-													atggcttgactttgaaggtgTtttttaccaaggcagcaccc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:234444892_234444892GT>G	uc001hvy.1	+	3	799	c.654_654GT>G	c.(652-654)gtgfs	p.V218fs	SLC35F3_uc001hwa.1_Frame_Shift_Del_p.V149fs	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	149					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CTTTGAAGGTGTTTTTTACCA	0.408													-	234444893	T	-	234444893	7	5	12	1	0	1	0	1	0	0	0	0	14590	1725	60	0	669	0	SLC35F3	1	234444893	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	1324727	234444893	14805728	134	10142											
HEATR1	55127	broad.mit.edu	37	chr1	236740226	236740226	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttttacggggcttcccaGgttaatgagtaaagatgtca	10	7	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:236740226G>T	uc001hyd.1	-	21	2904	c.2779C>A	c.(2779-2781)CTG>ATG	p.L927M	HEATR1_uc009xgh.1_Missense_Mutation_p.L170M	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	927					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGGCTTCCCAGGTTAATGAGT	0.373													T	236740226	G	T	236740226	3	4	12	1	0	0	0	0	1	0	0	0	7027	991	35	5	3755	5	HEATR1	1	236740226	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2295333	236740226	12510395	135	10143											
ACTN2	88	broad.mit.edu	37	chr1	236925910	236925910	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcactctacggggagagCgatctgtgatgctgagcttc	13	11	2	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:236925910C>T	uc001hyf.2	+	21	2880	c.2676C>T	c.(2674-2676)AGC>AGT	p.S892S	ACTN2_uc001hyg.2_Silent_p.S684S|ACTN2_uc009xgi.1_Silent_p.S892S|ACTN2_uc010pxu.1_Silent_p.S581S|ACTN2_uc001hyh.2_Silent_p.S580S	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	892					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ACGGGGAGAGCGATCTGTGAT	0.507													T	236925910	C	T	236925910	2	4	12	1	0	0	0	0	0	0	0	1	205	767	27	1		1	ACTN2	1	236925910	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	185684	236925910	12324711	136	10144											
RYR2	6262	broad.mit.edu	37	chr1	237732550	237732550	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacacaccatgatgttcacaCtgaatggtgaaatccttctt	6	10	2	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:237732550C>T	uc001hyl.1	+	29	3649	c.3529C>T	c.(3529-3531)CTG>TTG	p.L1177L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1177	Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATGTTCACACTGAATGGTGA	0.458													T	237732550	C	T	237732550	2	4	12	1	0	0	0	0	0	0	0	1	13769	564	20	4		4	RYR2	1	237732550	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	806640	237732550	11518071	137	10145											
RYR2	6262	broad.mit.edu	37	chr1	237791158	237791158	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtccgatgggctcaggagtCtgtcattgaagaccccgagc	14	11	3	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:237791158C>T	uc001hyl.1	+	41	6338	c.6218C>T	c.(6217-6219)TCT>TTT	p.S2073F		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2073	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTCAGGAGTCTGTCATTGAA	0.493													T	237791158	C	T	237791158	3	4	12	1	0	0	0	0	1	0	0	0	13769	913	32	4	6380	4	RYR2	1	237791158	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	58608	237791158	11459463	138	10146											
WDR64	128025	broad.mit.edu	37	chr1	241912901	241912901	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggagatgaaggtgttgccGgaggggaaagactggaagga	19	4	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:241912901G>T	uc001hzf.1	+	8	930	c.777G>T	c.(775-777)CCG>CCT	p.P259P	WDR64_uc001hzg.1_Silent_p.P5P	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	WD repeat domain 64	539	WD 7.									skin(1)	1	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AGGTGTTGCCGGAGGGGAAAG	0.512													T	241912901	G	T	241912901	2	4	12	1	0	0	0	0	0	0	0	1	17312	1103	39	5		5	WDR64	1	241912901	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	4121743	241912901	7337720	139	10147											
MAP1LC3C	440738	broad.mit.edu	37	chr1	242159681	242159681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgtggctctcaggaccatGcggctcctgggatgggcagg	16	12	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:242159681G>A	uc001hzk.2	-	4	303	c.228C>T	c.(226-228)CGC>CGT	p.R76R		NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3	76					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCAGGACCATGCGGCTCCTGG	0.562													A	242159681	G	A	242159681	2	1	12	1	0	0	0	0	0	0	0	1	9233	1306	46	2		2	MAP1LC3C	1	242159681	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	246780	242159681	7090940	140	10148											
CEP170	9859	broad.mit.edu	37	chr1	243303325	243303325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttggatcaccagatcgacCgttgtttccttctggtgttt	9	10	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:243303325C>T	uc001hzs.2	-	16	4552	c.4144G>A	c.(4144-4146)GGT>AGT	p.G1382S	CEP170_uc001hzt.2_Missense_Mutation_p.G1258S|CEP170_uc001hzu.2_Missense_Mutation_p.G1284S|CEP170_uc001hzr.2_5'UTR|CEP170_uc001hzv.1_Missense_Mutation_p.G734S	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	1382	Targeting to microtubules.|Targeting to centrosomes.					centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CCAGATCGACCGTTGTTTCCT	0.448													T	243303325	C	T	243303325	3	4	12	1	0	0	0	0	1	0	0	0	3250	652	23	1	630	1	CEP170	1	243303325	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1143644	243303325	5947296	141	10149											
ZNF496	84838	broad.mit.edu	37	chr1	247464263	247464263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgtcgctgaacagctccCcgcacaccgagcactcgtgc	10	18	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:247464263C>T	uc001ico.2	-	9	1787	c.1322G>A	c.(1321-1323)GGG>GAG	p.G441E	ZNF496_uc009xgv.2_Missense_Mutation_p.G477E|ZNF496_uc001icp.2_Missense_Mutation_p.G441E	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	441	C2H2-type 2.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GAACAGCTCCCCGCACACCGA	0.637													T	247464263	C	T	247464263	3	4	12	1	0	0	0	0	1	0	0	0	17942	623	22	4	445	4	ZNF496	1	247464263	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	4160938	247464263	1786358	142	10150											
OR2G2	81470	broad.mit.edu	37	chr1	247751877	247751877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctcatctctccttcctGtaccgctgcttcaccagcag	5	17	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:247751877G>A	uc010pyy.1	+	1	216	c.216G>A	c.(214-216)CTG>CTA	p.L72L		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCTCCTTCCTGTACCGCTGCT	0.463													A	247751877	G	A	247751877	2	1	12	1	0	0	0	0	0	0	0	1	10998	1364	48	4		4	OR2G2	1	247751877	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	287614	247751877	1498744	143	10151											
OR2G3	81469	broad.mit.edu	37	chr1	247769166	247769166	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaccaaagaagacgatcacTtacggtggttgtgtggcgca	13	8	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:247769166T>G	uc010pyz.1	+	1	279	c.279T>G	c.(277-279)ACT>ACG	p.T93T		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGACGATCACTTACGGTGGTT	0.468													G	247769166	T	G	247769166	2	3	12	1	0	0	0	0	0	0	0	1	10999	1596	56	5		5	OR2G3	1	247769166	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	17289	247769166	1481455	144	10152											
OR2M5	127059	broad.mit.edu	37	chr1	248308964	248308964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctcctactgtgggtctcGggaaatagcccacttcttct	8	13	4	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:248308964G>A	uc010pze.1	+	1	515	c.515G>A	c.(514-516)CGG>CAG	p.R172Q		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	172	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGTGGGTCTCGGGAAATAGCC	0.428													A	248308964	G	A	248308964	3	1	12	1	0	0	0	0	1	0	0	0	11013	1116	39	1	517	1	OR2M5	1	248308964	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	539798	248308964	941657	145	10153											
PGBD2	267002	broad.mit.edu	37	chr1	249211828	249211828	+	Frame_Shift_Del	DEL	T	T	-													gttttctgccatatcacataTtttttgacaaggttttcaca							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:249211827_249211827AT>A	uc001ifh.3	+	2	1191	c.1044_1044AT>A	c.(1042-1044)atafs	p.I348fs	PGBD2_uc001ifg.3_Frame_Shift_Del_p.I97fs|PGBD2_uc009xhd.3_Frame_Shift_Del_p.I345fs|PGBD2_uc021pmh.1_Frame_Shift_Del_p.I97fs	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	348										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CATATCACATATTTTTTGACA	0.438													-	249211828	T	-	249211828	7	5	12	1	0	1	0	1	0	0	0	0	11781	1493	52	0	1051	0	PGBD2	1	249211828	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	902864	249211828	38793	146	10154											
TMEM18	129787	broad.mit.edu	37	chr2	675560	675560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagcttcgggaggacaagCaggtgaggagcacgcagagc	17	8	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:675560C>T	uc002qwl.2	-	2	222	c.128G>A	c.(127-129)TGC>TAC	p.C43Y	TMEM18_uc002qwk.2_RNA|uc002qwm.1_5'Flank	NM_152834	NP_690047	Q96B42	TMM18_HUMAN	transmembrane protein 18	43	Helical; (Potential).				cell migration	integral to membrane|nuclear membrane				ovary(1)	1	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		GGAGGACAAGCAGGTGAGGAG	0.542													T	675560	C	T	675560	3	4	12	1	0	0	0	0	1	0	0	0	16095	710	25	2	310	2	TMEM18	2	675560	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08		675560	242523813	147	10155											
SOX11	6664	broad.mit.edu	37	chr2	5833022	5833022	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcggccgatgaacgcgttcAtggtatggtccaagatcgaa	13	9	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:5833022A>G	uc002qyj.2	+	1	224	c.169A>G	c.(169-171)ATG>GTG	p.M57V		NM_003108	NP_003099	P35716	SOX11_HUMAN	SRY-box 11	57	HMG box.				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		GAACGCGTTCATGGTATGGTC	0.602													G	5833022	A	G	5833022	3	3	12	1	0	0	0	0	1	0	0	0	14942	217	8	3	171	3	SOX11	2	5833022	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	5157462	5833022	237366351	148	10156											
GRHL1	29841	broad.mit.edu	37	chr2	10140759	10140759	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacaacattgtgaagcattActccaatgaggacaccttcc	7	12	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:10140759A>G	uc002raa.2	+	16	1952	c.1781A>G	c.(1780-1782)TAC>TGC	p.Y594C	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.Y405C|GRHL1_uc010yjb.1_Missense_Mutation_p.Y443C	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	594					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GTGAAGCATTACTCCAATGAG	0.512													G	10140759	A	G	10140759	3	3	12	1	0	0	0	0	1	0	0	0	6763	391	14	3	1843	3	GRHL1	2	10140759	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	4307737	10140759	233058614	149	10157											
GREB1	9687	broad.mit.edu	37	chr2	11750919	11750919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagatgaagaactacacGtcggtggagacgctggagat	14	9	0	5			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:11750919G>A	uc002rbk.1	+	18	3072	c.2772G>A	c.(2770-2772)ACG>ACA	p.T924T	GREB1_uc002rbo.1_Silent_p.T558T|GREB1_uc002rbp.1_5'Flank	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	924						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGAACTACACGTCGGTGGAGA	0.657													A	11750919	G	A	11750919	2	1	12	1	0	0	0	0	0	0	0	1	6760	1132	40	1		1	GREB1	2	11750919	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1610160	11750919	231448454	150	10158											
MATN3	4148	broad.mit.edu	37	chr2	20194089	20194089	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagtctttgaagatacgagCtgaccttgtcctggaatgcc	10	10	2	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:20194089C>A	uc002rdl.2	-	7	1439	c.1376G>T	c.(1375-1377)AGC>ATC	p.S459I	MATN3_uc010exu.1_Missense_Mutation_p.S417I	NM_002381	NP_002372	O15232	MATN3_HUMAN	matrilin 3 precursor	459	By similarity.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGATACGAGCTGACCTTGTC	0.463													A	20194089	C	A	20194089	3	1	12	1	0	0	0	0	1	0	0	0	9335	797	28	5	92	5	MATN3	2	20194089	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	8443170	20194089	223005284	151	10159											
MFSD2B	388931	broad.mit.edu	37	chr2	24247037	24247037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctcaaagtcctcattggCgccgtgcccacctgcatgat	8	16	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:24247037C>T	uc002reo.1	+	13	1400	c.1386C>T	c.(1384-1386)GGC>GGT	p.G462G		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing	462	Helical; (Potential).				transport	integral to membrane				ovary(2)	2						TCCTCATTGGCGCCGTGCCCA	0.607													T	24247037	C	T	24247037	2	4	12	1	0	0	0	0	0	0	0	1	9531	755	27	1		1	MFSD2B	2	24247037	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	4052948	24247037	218952336	152	10160											
ITSN2	50618	broad.mit.edu	37	chr2	24483988	24483988	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacatacctgtccatgaataGgtgatacagatccaggggac	10	9	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:24483988G>T	uc002rfe.2	-	22	2927	c.2669C>A	c.(2668-2670)CCT>CAT	p.P890H	ITSN2_uc002rff.2_Missense_Mutation_p.P863H|ITSN2_uc002rfg.2_Missense_Mutation_p.P890H	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	890					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCATGAATAGGTGATACAGA	0.338													T	24483988	G	T	24483988	3	4	12	1	0	0	0	0	1	0	0	0	7927	1000	35	5	2551	5	ITSN2	2	24483988	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	236951	24483988	218715385	153	10161											
ASXL2	55252	broad.mit.edu	37	chr2	25965741	25965742	+	Frame_Shift_Ins	INS	-	-	G													ccattttcaaggcttcagtgINSgggctgcttagacaaaaacg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:25965740_25965741T>TG	uc002rgs.2	-	11	3686_3687	c.3465_3466A>CA	c.(3463-3468)cccactfs	p.P1155fs	ASXL2_uc002rgt.1_Frame_Shift_Ins_p.P638fs	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	1155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGCTTCAGTGGGGCTGCTTA	0.455													G	25965742	-	G	25965741	7	5	12	1	0	1	1	0	0	0	0	0	1067	1335	47	0	846	0	ASXL2	2	25965741	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	1481753	25965741	217233632	154	10162											
OTOF	9381	broad.mit.edu	37	chr2	26683555	26683555	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggttcattgcgggccaggcCcactgggttcttctctgcct	12	13	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:26683555C>A	uc002rhk.2	-	45	5900	c.5773G>T	c.(5773-5775)GGC>TGC	p.G1925C	OTOF_uc010yla.1_Missense_Mutation_p.G655C|OTOF_uc002rhh.2_Missense_Mutation_p.G1158C|OTOF_uc002rhi.2_Missense_Mutation_p.G1235C|OTOF_uc002rhj.2_Missense_Mutation_p.G1158C	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1925	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGGCCAGGCCCACTGGGTTC	0.637													A	26683555	C	A	26683555	3	1	12	1	0	0	0	0	1	0	0	0	11303	623	22	5	413	5	OTOF	2	26683555	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	717814	26683555	216515818	155	10163											
IFT172	26160	broad.mit.edu	37	chr2	27683894	27683894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctagtacctttcatgaatgCgttgcctttacggtagcact	9	10	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:27683894C>T	uc002rku.2	-	23	2560	c.2509G>A	c.(2509-2511)GCA>ACA	p.A837T		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	837	TPR 3.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					TTCATGAATGCGTTGCCTTTA	0.428													T	27683894	C	T	27683894	3	4	12	1	0	0	0	0	1	0	0	0	7557	768	27	1	2844	1	IFT172	2	27683894	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1000339	27683894	215515479	156	10164											
XDH	7498	broad.mit.edu	37	chr2	31560626	31560626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcgagctgcacggatggCatctttgatggcaaagaaga	13	8	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:31560626C>T	uc002rnv.1	-	35	3911	c.3832G>A	c.(3832-3834)GCC>ACC	p.A1278T		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	1278					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GCACGGATGGCATCTTTGATG	0.587													T	31560626	C	T	31560626	3	4	12	1	0	0	0	0	1	0	0	0	17423	710	25	2	177	2	XDH	2	31560626	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3876732	31560626	211638747	157	10165											
LTBP1	4052	broad.mit.edu	37	chr2	33623607	33623607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagagaaagacagtgacctgGagtgaaacagaatctacata	10	6	1	5			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:33623607G>A	uc002ros.2	+	34	5164	c.5164G>A	c.(5164-5166)GAG>AAG	p.E1722K	LTBP1_uc002rot.2_Missense_Mutation_p.E1396K|LTBP1_uc002rou.2_Missense_Mutation_p.E1395K|LTBP1_uc002rov.2_Missense_Mutation_p.E1342K|LTBP1_uc010ymz.1_Missense_Mutation_p.E1353K|LTBP1_uc010yna.1_Missense_Mutation_p.E1300K|LTBP1_uc010ynb.1_Missense_Mutation_p.E619K	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1721					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAGTGACCTGGAGTGAAACAG	0.443													A	33623607	G	A	33623607	3	1	12	1	0	0	0	0	1	0	0	0	9073	1175	41	4	5350	4	LTBP1	2	33623607	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2062981	33623607	209575766	158	10166											
CRIM1	51232	broad.mit.edu	37	chr2	36740836	36740836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggacgggaaatgtgtgccCtgatcacctgcccggtgcct	13	12	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:36740836C>T	uc002rpd.2	+	11	1957	c.1918C>T	c.(1918-1920)CTG>TTG	p.L640L		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	640	VWFC 3.|Extracellular (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AATGTGTGCCCTGATCACCTG	0.532													T	36740836	C	T	36740836	2	4	12	1	0	0	0	0	0	0	0	1	3873	680	24	4		4	CRIM1	2	36740836	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3117229	36740836	206458537	159	10167											
SIX3	6496	broad.mit.edu	37	chr2	45169338	45169338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccatacttctggcgagtaGcggcggcgggaacggtgcgg	17	11	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:45169338G>A	uc002run.1	+	1	302	c.95G>A	c.(94-96)AGC>AAC	p.S32N		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	32					visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTGGCGAGTAgcggcggcggg	0.269													A	45169338	G	A	45169338	3	1	12	1	0	0	0	0	1	0	0	0	14348	971	34	2	97	2	SIX3	2	45169338	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	8428502	45169338	198030035	160	10168											
MSH2	4436	broad.mit.edu	37	chr2	47705414	47705414	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaattatgtgcttcaggtcTgcaaccaaagattcattaat	7	7	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:47705414T>C	uc002rvy.1	+	14	2282	c.2214T>C	c.(2212-2214)TCT>TCC	p.S738S	MSH2_uc010yoh.1_Silent_p.S672S|MSH2_uc002rvz.2_Silent_p.S738S|MSH2_uc010fbg.2_Silent_p.S548S	NM_000251	NP_000242	P43246	MSH2_HUMAN	mutS homolog 2	738					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.?(2)		large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCTTCAGGTCTGCAACCAAAG	0.343			D|Mis|N|F|S		colorectal|endometrial|ovarian	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				C	47705414	T	C	47705414	2	2	12	1	0	0	0	0	0	0	0	1	9870	1567	55	3		3	MSH2	2	47705414	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	2536076	47705414	195493959	161	10169											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	12	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-BR-4257-01A-01D-1126-08	6461726	54167140	189032233	162	10170											
RTN4	57142	broad.mit.edu	37	chr2	55252334	55252334	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaagaactttgggtttaacTatgctctctatctctgcttg	7	9	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:55252334T>C	uc002rye.2	-	3	3199	c.2901A>G	c.(2899-2901)ATA>ATG	p.I967M	RTN4_uc002ryd.2_Missense_Mutation_p.I761M|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	967	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3						TGGGTTTAACTATGCTCTCTA	0.408													C	55252334	T	C	55252334	3	2	12	1	0	0	0	0	1	0	0	0	13728	1512	53	3	743	3	RTN4	2	55252334	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1085194	55252334	187947039	163	10171											
PELI1	57162	broad.mit.edu	37	chr2	64322041	64322041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgtccacataaaatccaGcttcacatccaagccacaga	6	15	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:64322041G>A	uc002scs.3	-	6	5091	c.1052C>T	c.(1051-1053)GCT>GTT	p.A351V	PELI1_uc002sct.3_Missense_Mutation_p.A351V|PELI1_uc002scr.3_Missense_Mutation_p.A172V	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	pellino protein	351					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				ovary(1)	1						ATAAAATCCAGCTTCACATCC	0.493													A	64322041	G	A	64322041	3	1	12	1	0	0	0	0	1	0	0	0	11721	971	34	2	208	2	PELI1	2	64322041	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	9069707	64322041	178877332	164	10172											
CEP68	23177	broad.mit.edu	37	chr2	65296924	65296924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagaccttctgctctccGgggaaagccaggtaggtact	13	11	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:65296924G>A	uc002sdl.3	+	2	560	c.346G>A	c.(346-348)GGG>AGG	p.G116R	CEP68_uc002sdj.2_Missense_Mutation_p.G116R|CEP68_uc010yqb.1_Missense_Mutation_p.G116R|CEP68_uc002sdk.3_Missense_Mutation_p.G116R|CEP68_uc010yqc.1_Missense_Mutation_p.G116R|CEP68_uc010yqd.1_Missense_Mutation_p.G116R	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	116					centrosome organization	centrosome				skin(1)	1						TCTGCTCTCCGGGGAAAGCCA	0.557													A	65296924	G	A	65296924	3	1	12	1	0	0	0	0	1	0	0	0	3258	1116	39	1	348	1	CEP68	2	65296924	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	974883	65296924	177902449	165	10173											
PCBP1	5093	broad.mit.edu	37	chr2	70315822	70315822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggcccagatcaaaattgCcaacccagtggaaggctcct	11	13	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:70315822C>T	uc002sgf.2	+	1	1238	c.947C>T	c.(946-948)GCC>GTC	p.A316V	ASPRV1_uc002sga.2_5'Flank|uc002sgb.1_5'Flank|uc002sgd.2_5'Flank|uc002sge.1_5'Flank	NM_006196	NP_006187	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	316	KH 3.				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding				0						ATCAAAATTGCCAACCCAGTG	0.507													T	70315822	C	T	70315822	3	4	12	1	0	0	0	0	1	0	0	0	11500	739	26	2	949	2	PCBP1	2	70315822	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	5018898	70315822	172883551	166	10174											
ATP6V1B1	525	broad.mit.edu	37	chr2	71189997	71189997	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtgctggtcatactgacGgacatgagttcctatgcaga	11	9	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:71189997G>A	uc002shj.2	+	9	963	c.876G>A	c.(874-876)ACG>ACA	p.T292T	ATP6V1B1_uc010fdv.2_Silent_p.T292T|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Silent_p.T250T	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	292					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1						TCATACTGACGGACATGAGTT	0.587													A	71189997	G	A	71189997	2	1	12	1	0	0	0	0	0	0	0	1	1178	1103	39	1		1	ATP6V1B1	2	71189997	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	874175	71189997	172009376	167	10175											
ZNF638	27332	broad.mit.edu	37	chr2	71629145	71629147	+	In_Frame_Del	DEL	AGA	AGA	-													cctaataaaggatattctgtAgaagaagtttatgacttagc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:71629145_71629147delAGA	uc002shx.2	+	16	3076_3078	c.2757_2759delAGA	c.(2755-2760)GTAGAA>GTA	p.E921del	ZNF638_uc010yqw.1_In_Frame_Del_p.E500del|ZNF638_uc002shy.2_In_Frame_Del_p.E921del|ZNF638_uc002shz.2_In_Frame_Del_p.E921del|ZNF638_uc002sia.2_In_Frame_Del_p.E921del|ZNF638_uc002sib.1_In_Frame_Del_p.E921del|ZNF638_uc010fed.2_RNA|ZNF638_uc002sic.2_In_Frame_Del_p.E18del	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	921	RRM 2.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						GATATTCTGTAGAAGAAGTTTAT	0.286													-	71629147	AGA	-	71629145	7	5	12	1	0	1	0	1	0	0	0	0	18052	407	15	0	2815	0	ZNF638	2	71629145	In_Frame_Del	DEL	AGA	TCGA-BR-4257-01A-01D-1126-08	439148	71629145	171570228	168	10176											
EMX1	2016	broad.mit.edu	37	chr2	73160979	73160979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagctggaggaggaagggCctgagtccgagcagaagaag	18	6	0	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:73160979C>T	uc002sin.1	+	3	1147	c.769C>T	c.(769-771)CCT>TCT	p.P257S	EMX1_uc002sim.1_Missense_Mutation_p.A209V	NM_004097	NP_004088	Q04741	EMX1_HUMAN	empty spiracles homolog 1	224						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGAGGAAGGGCCTGAGTCCGA	0.577													T	73160979	C	T	73160979	3	4	12	1	0	0	0	0	1	0	0	0	5107	739	26	2	779	2	EMX1	2	73160979	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1531834	73160979	170038394	169	10177											
CAPG	822	broad.mit.edu	37	chr2	85628347	85628347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtcccagttcagtgcccGctcggtggcacggatgttct	13	13	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:85628347G>A	uc002spl.1	-	5	707	c.457C>T	c.(457-459)CGG>TGG	p.R153W	CAPG_uc002spm.1_Missense_Mutation_p.R153W|CAPG_uc010ysq.1_Missense_Mutation_p.R153W|CAPG_uc010fgi.1_Missense_Mutation_p.R153W|CAPG_uc010fgj.1_Missense_Mutation_p.R47W	NM_001747	NP_001738	P40121	CAPG_HUMAN	gelsolin-like capping protein	153	Gelsolin-like 2.				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding				0						TTCAGTGCCCGCTCGGTGGCA	0.582													A	85628347	G	A	85628347	3	1	12	1	0	0	0	0	1	0	0	0	2621	1086	38	1	613	1	CAPG	2	85628347	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	12467368	85628347	157571026	170	10178											
RNF103	7844	broad.mit.edu	37	chr2	86831891	86831891	+	Frame_Shift_Del	DEL	A	A	-													tatctaagtaaggtagctgtAaaaagcccaacacaggtagc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:86831891delA	uc002srn.2	-	4	2102	c.1133delT	c.(1132-1134)TTAfs	p.L378fs	VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Frame_Shift_Del_p.L239fs|uc002sro.2_Intron	NM_005667	NP_005658	O00237	RN103_HUMAN	ring finger protein 103	378	Helical; (Potential).				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)	1						AGGTAGCTGTAAAAAGCCCAA	0.378													-	86831891	A	-	86831891	7	5	12	1	0	1	0	1	0	0	0	0	13423	372	13	0	928	0	RNF103	2	86831891	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	1203544	86831891	156367482	171	10179											
EIF2AK3	9451	broad.mit.edu	37	chr2	88890059	88890059	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgtataacttgtatcatcaAaaagactgatgggaatgact	8	5	2	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:88890059A>T	uc002stc.3	-	6	1269	c.1067T>A	c.(1066-1068)TTT>TAT	p.F356Y		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	356	Lumenal (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TGTATCATCAAAAAGACTGAT	0.353													T	88890059	A	T	88890059	3	4	12	1	0	0	0	0	1	0	0	0	4998	14	1	5	2331	5	EIF2AK3	2	88890059	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2058168	88890059	154309314	172	10180											
ASTL	431705	broad.mit.edu	37	chr2	96789597	96789597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagccacaggcttaatcttCggacatccccttgaaatgat	8	11	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:96789597C>T	uc010yui.1	-	9	1288	c.1288G>A	c.(1288-1290)GAA>AAA	p.E430K		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	430					proteolysis		metalloendopeptidase activity|zinc ion binding				0						GCTTAATCTTCGGACATCCCC	0.572													T	96789597	C	T	96789597	3	4	12	1	0	0	0	0	1	0	0	0	1063	893	31	1	10	1	ASTL	2	96789597	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	7899538	96789597	146409776	173	10181											
SNRNP200	23020	broad.mit.edu	37	chr2	96945296	96945296	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagatggggtaatccacatAgctggtgacagaagcaggga	14	6	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:96945296A>G	uc002svu.2	-	36	5112	c.5026T>C	c.(5026-5028)TAT>CAT	p.Y1676H	SNRNP200_uc002svt.2_Missense_Mutation_p.Y286H|SNRNP200_uc010yuj.1_RNA	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1676	Helicase C-terminal 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						TAATCCACATAGCTGGTGACA	0.532													G	96945296	A	G	96945296	3	3	12	1	0	0	0	0	1	0	0	0	14852	434	15	3	1424	3	SNRNP200	2	96945296	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	155699	96945296	146254077	174	10182											
ANKRD39	51239	broad.mit.edu	37	chr2	97514112	97514112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccgtgcctttcggtcccGgatggccttcagggctgggc	15	13	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:97514112G>A	uc002sxd.3	-	4	510	c.478C>T	c.(478-480)CGG>TGG	p.R160W		NM_016466	NP_057550	Q53RE8	ANR39_HUMAN	ankyrin repeat domain 39	160											0						TTTCGGTCCCGGATGGCCTTC	0.617													A	97514112	G	A	97514112	3	1	12	1	0	0	0	0	1	0	0	0	668	1115	39	1	77	1	ANKRD39	2	97514112	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	568816	97514112	145685261	175	10183											
TSGA10	80705	broad.mit.edu	37	chr2	99688288	99688288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctcatccaattgccgacGcattctggaaacgtcttgtt	8	11	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:99688288G>A	uc002szg.3	-	12	1616	c.988C>T	c.(988-990)CGT>TGT	p.R330C	TSGA10_uc002szh.3_Missense_Mutation_p.R330C|TSGA10_uc002szi.3_Missense_Mutation_p.R330C|TSGA10_uc010fin.1_Missense_Mutation_p.R330C|TSGA10_uc010yvn.1_3'UTR	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	330					spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2						AATTGCCGACGCATTCTGGAA	0.428													A	99688288	G	A	99688288	3	1	12	1	0	0	0	0	1	0	0	0	16614	1087	38	1	1140	1	TSGA10	2	99688288	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2174176	99688288	143511085	176	10184											
GCC2	9648	broad.mit.edu	37	chr2	109089309	109089309	+	Frame_Shift_Del	DEL	A	A	-													ttagcaaaatcaccttctgtAaaaaatgatcctctgtcttc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:109089309delA	uc002tec.2	+	7	2968	c.2814delA	c.(2812-2814)GTAfs	p.V938fs	GCC2_uc002ted.2_Frame_Shift_Del_p.V837fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	938	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						CACCTTCTGTAAAAAATGATC	0.308													-	109089309	A	-	109089309	7	5	12	1	0	1	0	1	0	0	0	0	6286	349	13	0	2840	0	GCC2	2	109089309	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	9401021	109089309	134110064	177	10185											
LIMS1	3987	broad.mit.edu	37	chr2	109300406	109300406	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatgagaaatttccattggAgctgaagaaaagacttaaga	9	5	0	5			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:109300406A>C	uc002teg.2	+	10	1048	c.929A>C	c.(928-930)GAG>GCG	p.E310A	LIMS1_uc002tef.2_Missense_Mutation_p.E322A|LIMS1_uc002teh.2_Missense_Mutation_p.E310A|LIMS1_uc002tei.2_Missense_Mutation_p.E310A|LIMS1_uc002tej.2_Missense_Mutation_p.E347A|LIMS1_uc002tek.3_Missense_Mutation_p.E372A|uc002tel.2_5'Flank	NM_004987	NP_004978	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	310					cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding				0						TTTCCATTGGAGCTGAAGAAA	0.313													C	109300406	A	C	109300406	3	2	12	1	0	0	0	0	1	0	0	0	8803	304	11	5	963	5	LIMS1	2	109300406	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	211097	109300406	133898967	178	10186											
PTPN4	5775	broad.mit.edu	37	chr2	120677688	120677688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggatttaatatggtgaattAcagagcatgtaaaaatttgt	10	2	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:120677688A>G	uc002tmf.1	+	12	1643	c.872A>G	c.(871-873)TAC>TGC	p.Y291C	PTPN4_uc010flj.1_Missense_Mutation_p.Y4C	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	291	FERM.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	ATGGTGAATTACAGAGCATGT	0.348													G	120677688	A	G	120677688	3	3	12	1	0	0	0	0	1	0	0	0	12790	391	14	3	914	3	PTPN4	2	120677688	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	11377282	120677688	122521685	179	10187											
PTPN18	26469	broad.mit.edu	37	chr2	131116512	131116512	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccggcagtcggccagagAacgtgaggaagaaccgctac	15	11	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:131116512A>G	uc002trc.2	+	2	267	c.166A>G	c.(166-168)AAC>GAC	p.N56D	PTPN18_uc002trd.2_Missense_Mutation_p.N56D|PTPN18_uc002trb.2_Intron	NM_014369	NP_055184	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type	56	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			ovary(3)|kidney(1)	4	Colorectal(110;0.1)					TCGGCCAGAGAACGTGAGGAA	0.642													G	131116512	A	G	131116512	3	3	12	1	0	0	0	0	1	0	0	0	12784	246	9	3	172	3	PTPN18	2	131116512	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	10438824	131116512	112082861	180	10188											
GPR39	2863	broad.mit.edu	37	chr2	133402818	133402818	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctcggagacgtttttctAcctcagctcggtcatcaacc	7	14	5	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:133402818A>G	uc002ttl.2	+	2	1470	c.1001A>G	c.(1000-1002)TAC>TGC	p.Y334C	LYPD1_uc002ttm.3_3'UTR|LYPD1_uc002ttn.2_3'UTR|LYPD1_uc002tto.2_3'UTR	NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	334	Helical; Name=7; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						ACGTTTTTCTACCTCAGCTCG	0.607													G	133402818	A	G	133402818	3	3	12	1	0	0	0	0	1	0	0	0	6693	391	14	3	1007	3	GPR39	2	133402818	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2286306	133402818	109796555	181	10189											
LRP1B	53353	broad.mit.edu	37	chr2	141816614	141816614	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaacacagttataccataaaGatgtctaacctataaagagg	6	7	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:141816614G>T	uc002tvj.1	-	9	2218	c.1246C>A	c.(1246-1248)CTT>ATT	p.L416I	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	416	Extracellular (Potential).|LDL-receptor class B 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATACCATAAAGATGTCTAACC	0.299										TSP Lung(27;0.18)			T	141816614	G	T	141816614	3	4	12	1	0	0	0	0	1	0	0	0	8955	942	33	5	12885	5	LRP1B	2	141816614	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	8413796	141816614	101382759	182	10190											
FMNL2	114793	broad.mit.edu	37	chr2	153399319	153399319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaggctatctggatccaGctgtaaccaggaaggtaaga	11	8	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:153399319G>A	uc002tye.2	+	3	635	c.268G>A	c.(268-270)GCT>ACT	p.A90T		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	90	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3						TCTGGATCCAGCTGTAACCAG	0.443													A	153399319	G	A	153399319	3	1	12	1	0	0	0	0	1	0	0	0	5952	971	34	2	278	2	FMNL2	2	153399319	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	11582705	153399319	89800054	183	10191											
TANC1	85461	broad.mit.edu	37	chr2	160027037	160027037	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttttcttcttttgaagcaCgatttgctccctacaagcca	5	11	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:160027037C>T	uc002uag.2	+	10	1346	c.1072C>T	c.(1072-1074)CGA>TGA	p.R358*	TANC1_uc010fol.1_Nonsense_Mutation_p.R252*|TANC1_uc010zcm.1_Nonsense_Mutation_p.R350*|TANC1_uc010fom.1_Nonsense_Mutation_p.R164*	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	358						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						TTTTGAAGCACGATTTGCTCC	0.333													T	160027037	C	T	160027037	4	4	12	1	0	0	0	0	0	1	0	0	15541	528	19	1	1102	1	TANC1	2	160027037	Nonsense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	6627718	160027037	83172336	184	10192											
SCN3A	6328	broad.mit.edu	37	chr2	165947618	165947618	+	Frame_Shift_Del	DEL	T	T	-													tgtcatcaattccagcttccTttttaacataggcaaagttg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:165947617_165947617CT>C	uc002ucx.3	-	27	5538	c.5046_5046AG>G	c.(5044-5046)aagfs	p.K1682fs	SCN3A_uc010zcy.2_Frame_Shift_Del_p.K165fs|SCN3A_uc002ucy.3_Frame_Shift_Del_p.K1633fs|SCN3A_uc002ucz.3_Frame_Shift_Del_p.K1633fs	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1682						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTCCAGCTTCCTTTTTAACAT	0.448													-	165947618	T	-	165947618	7	5	12	1	0	1	0	1	0	0	0	0	13918	1609	56	0	961	0	SCN3A	2	165947618	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	5920581	165947618	77251755	185	10193											
CSRNP3	80034	broad.mit.edu	37	chr2	166535659	166535659	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaggaggaggaggatgAcgatgatgacaaaggagatg	19	2	0	5			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:166535659A>G	uc002udf.2	+	7	1530	c.1154A>G	c.(1153-1155)GAC>GGC	p.D385G	CSRNP3_uc002udg.2_Missense_Mutation_p.D385G	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	385					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						gaggaggaTGACGATGATGAC	0.403													G	166535659	A	G	166535659	3	3	12	1	0	0	0	0	1	0	0	0	3965	275	10	3	1168	3	CSRNP3	2	166535659	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	588041	166535659	76663714	186	10194											
XIRP2	129446	broad.mit.edu	37	chr2	168102239	168102239	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtcaatgaaatacaaaAgggcaatgttaaaacatcta	7	5	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:168102239A>C	uc002udx.2	+	8	4355	c.4337A>C	c.(4336-4338)AAG>ACG	p.K1446T	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K1271T|XIRP2_uc010fpq.2_Missense_Mutation_p.K1224T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1271					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GAAATACAAAAGGGCAATGTT	0.338													C	168102239	A	C	168102239	3	2	12	1	0	0	0	0	1	0	0	0	17427	72	3	5	4367	5	XIRP2	2	168102239	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1566580	168102239	75097134	187	10195											
XIRP2	129446	broad.mit.edu	37	chr2	168102522	168102522	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgaatttaatgaaacTagagtagaaaagatagaaat	7	3	1	6			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:168102522T>C	uc002udx.2	+	8	4638	c.4620T>C	c.(4618-4620)ACT>ACC	p.T1540T	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.T1365T|XIRP2_uc010fpq.2_Silent_p.T1318T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1365					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TTAATGAAACTAGAGTAGAAA	0.358													C	168102522	T	C	168102522	2	2	12	1	0	0	0	0	0	0	0	1	17427	1509	53	3		3	XIRP2	2	168102522	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	283	168102522	75096851	188	10196											
DHRS9	10170	broad.mit.edu	37	chr2	169948389	169948390	+	Frame_Shift_Ins	INS	-	-	A													gatccagtaaaggtaattgaINSaaaaaaactcgccatttggg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:169948388_169948389G>GA	uc010zdc.2	+	3	953_954	c.841_842G>GA	c.(841-843)gaafs	p.E281fs	DHRS9_uc002uep.3_Frame_Shift_Ins_p.E221fs|DHRS9_uc002ueq.3_Frame_Shift_Ins_p.E221fs|DHRS9_uc010zdd.2_Frame_Shift_Ins_p.E221fs|DHRS9_uc010zde.2_Frame_Shift_Ins_p.E221fs	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	221					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AAAGGTAATTGAAAAAAAACTC	0.426													A	169948390	-	A	169948389	7	5	12	1	0	1	1	0	0	0	0	0	4498	246	9	0	672	0	DHRS9	2	169948389	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	1845867	169948389	73250984	189	10197											
KBTBD10	10324	broad.mit.edu	37	chr2	170366496	170366497	+	Frame_Shift_Ins	INS	-	-	A													atctgaaattgatgaggcgaINSaaaaaaaggaggtagtgcta							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:170366495_170366496G>GA	uc002ueu.1	+	0	284_285	c.207_208G>GA	c.(205-210)gcgaaafs	p.A69fs	KBTBD10_uc010zdh.1_Intron	NM_006063	NP_006054	O60662	KBTBA_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.	69	BTB.				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		p.A69V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						TTGATGAGGCGAAAAAAAAGGA	0.391													A	170366497	-	A	170366496	7	5	12	1	0	1	1	0	0	0	0	0	7990	247	9	0	210	0	KBTBD10	2	170366496	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	418107	170366496	72832877	190	10198											
MYO3B	140469	broad.mit.edu	37	chr2	171376034	171376034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaagcaactctcctgctGtcacagagaaaaatgggtga	9	10	3	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:171376034G>A	uc002ufy.2	+	30	3702	c.3559G>A	c.(3559-3561)GTC>ATC	p.V1187I	MYO3B_uc002ufv.2_Missense_Mutation_p.V1174I|MYO3B_uc010fqb.1_Missense_Mutation_p.V1174I|MYO3B_uc002ufz.2_Missense_Mutation_p.V1160I|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	1187					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						CTCTCCTGCTGTCACAGAGAA	0.433													A	171376034	G	A	171376034	3	1	12	1	0	0	0	0	1	0	0	0	10077	1377	48	4	3677	4	MYO3B	2	171376034	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1009538	171376034	71823339	191	10199											
GAD1	2571	broad.mit.edu	37	chr2	171702523	171702523	+	Frame_Shift_Del	DEL	A	A	-													tttccaataattatagggggAaaataattccagctgatttt							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:171702522_171702522GA>G	uc002ugi.3	+	9	1373	c.951_951GA>G	c.(949-951)gggfs	p.G317fs		NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	317					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATTATAGGGGGAAAATAATTC	0.348													-	171702523	A	-	171702523	7	5	12	1	0	1	0	1	0	0	0	0	6179	247	9	0	1027	0	GAD1	2	171702523	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	326489	171702523	71496850	192	10200											
SLC25A12	8604	broad.mit.edu	37	chr2	172725336	172725336	+	Splice_Site	DEL	A	A	-													aacctcagtactggcatactAaaaaaataaataaataatgc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:172725335_172725335TA>T	uc002uhh.2	-	3	156	c.67_splice	c.e3-1	p.Y23_splice	SLC25A12_uc010fqh.2_Splice_Site|SLC25A12_uc010zdv.1_Splice_Site	NM_003705	NP_003696	O75746	CMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12), nuclear gene encoding mitochondrial protein, mRNA.	23					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	ACTGGCATACTAAAAAAATAA	0.313													-	172725336	A	-	172725336	8	5	12	1	0	1	0	1	0	0	1	0	14474	377	13	0		0	SLC25A12	2	172725336	Splice_Site	DEL	A	TCGA-BR-4257-01A-01D-1126-08	1022813	172725336	70474037	193	10201											
RAPGEF4	11069	broad.mit.edu	37	chr2	173852994	173852994	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtgaatgtagtcatttaCggcaaggtatatatatcttt	8	5	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:173852994C>T	uc002uhv.3	+	13	1408	c.1221C>T	c.(1219-1221)TAC>TAT	p.Y407Y	RAPGEF4_uc002uhw.3_Silent_p.Y263Y|RAPGEF4_uc010zec.1_Silent_p.Y254Y|RAPGEF4_uc010zed.1_Silent_p.Y236Y|RAPGEF4_uc010zee.1_Silent_p.Y254Y|RAPGEF4_uc010fqo.2_Silent_p.Y236Y|RAPGEF4_uc010zef.1_Silent_p.Y187Y|RAPGEF4_uc010zeg.1_Silent_p.Y234Y|RAPGEF4_uc010fqp.1_Silent_p.Y187Y|RAPGEF4_uc010zeh.1_Silent_p.Y187Y	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	407	cAMP 2.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TAGTCATTTACGGCAAGGTAT	0.348													T	173852994	C	T	173852994	2	4	12	1	0	0	0	0	0	0	0	1	13046	547	19	1		1	RAPGEF4	2	173852994	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1127658	173852994	69346379	194	10202											
CDCA7	83879	broad.mit.edu	37	chr2	174228609	174228609	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccgtggaagacatcccctcCcaggctccgactcagtaagt	9	15	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:174228609C>A	uc002uid.1	+	4	579	c.448C>A	c.(448-450)CCA>ACA	p.P150T	CDCA7_uc002uic.1_Missense_Mutation_p.P229T|CDCA7_uc010zej.1_Missense_Mutation_p.P185T|CDCA7_uc010zek.1_Missense_Mutation_p.P108T	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7 isoform 2	150					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.116)			ACATCCCCTCCCAGGCTCCGA	0.403													A	174228609	C	A	174228609	3	1	12	1	0	0	0	0	1	0	0	0	3090	623	22	5	703	5	CDCA7	2	174228609	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	375615	174228609	68970764	195	10203											
HOXD11	3237	broad.mit.edu	37	chr2	176972255	176972255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctccgcacgtccagcccGtgcgcgaagtggccttccgc	13	17	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:176972255G>A	uc002uki.2	+	1	172	c.172G>A	c.(172-174)GTG>ATG	p.V58M	HOXD11_uc010fqx.2_Intron	NM_021192	NP_067015	P31277	HXD11_HUMAN	homeobox D11	58						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CGTCCAGCCCGTGCGCGAAGT	0.493			T	NUP98	AML								A	176972255	G	A	176972255	3	1	12	1	0	0	0	0	1	0	0	0	7320	1145	40	1	174	1	HOXD11	2	176972255	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2743646	176972255	66227118	196	10204											
TTC30A	92104	broad.mit.edu	37	chr2	178481542	178481542	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcgaggggttgttcaaTaacagcaggtatgtttgtgc	12	6	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:178481542T>C	uc002ulo.2	-	1	2153	c.1888A>G	c.(1888-1890)ATT>GTT	p.I630V		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	630					cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GGTTGTTCAATAACAGCAGGT	0.373													C	178481542	T	C	178481542	3	2	12	1	0	0	0	0	1	0	0	0	16695	1406	49	3	113	3	TTC30A	2	178481542	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1509287	178481542	64717831	197	10205											
TTN	7273	broad.mit.edu	37	chr2	179396464	179396464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacatttaaaataaaacGtgtattttggccacatggta	7	6	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:179396464G>A	uc010zfg.1	-	307	97398	c.97174C>T	c.(97174-97176)CGT>TGT	p.R32392C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R26087C|TTN_uc010zfi.1_Missense_Mutation_p.R26020C|TTN_uc010zfj.1_Missense_Mutation_p.R25895C|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33319							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAATAAAACGTGTATTTTGG	0.448													A	179396464	G	A	179396464	3	1	12	1	0	0	0	0	1	0	0	0	16732	1145	40	1	3121	1	TTN	2	179396464	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	914922	179396464	63802909	198	10206											
TTN	7273	broad.mit.edu	37	chr2	179474047	179474047	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cggacgcgtagctgagattcTccctttttgctgttgtcaat	10	10	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:179474047T>A	uc010zfg.1	-	222	44510	c.44286A>T	c.(44284-44286)GGA>GGT	p.G14762G	uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G8457G|TTN_uc010zfi.1_Silent_p.G8390G|TTN_uc010zfj.1_Silent_p.G8265G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15689							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGAGATTCTCCCTTTTTGC	0.463													A	179474047	T	A	179474047	2	1	12	1	0	0	0	0	0	0	0	1	16732	1538	54	5		5	TTN	2	179474047	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	77583	179474047	63725326	199	10207											
TTN	7273	broad.mit.edu	37	chr2	179594261	179594261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actatattttactacctccaCaggcttcagctctctgataa	4	12	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:179594261C>T	uc010zfg.1	-	61	15114	c.14890G>A	c.(14890-14892)GTG>ATG	p.V4964M	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V1625M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5891							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTACCTCCACAGGCTTCAGC	0.468													T	179594261	C	T	179594261	3	4	12	1	0	0	0	0	1	0	0	0	16732	478	17	4	86103	4	TTN	2	179594261	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	120214	179594261	63605112	200	10208											
ZNF804A	91752	broad.mit.edu	37	chr2	185801763	185801763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgagaacacaggtcagaGgtataaaaacatttcctgta	8	6	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:185801763G>A	uc002uph.2	+	4	2234	c.1640G>A	c.(1639-1641)AGG>AAG	p.R547K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	547						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						ACAGGTCAGAGGTATAAAAAC	0.328													A	185801763	G	A	185801763	3	1	12	1	0	0	0	0	1	0	0	0	18167	1000	35	4	1654	4	ZNF804A	2	185801763	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	6207502	185801763	57397610	201	10209											
FSIP2	401024	broad.mit.edu	37	chr2	186673635	186673635	+	Frame_Shift_Del	DEL	A	A	-													aaaccagtcaaaatagatccAaaaattatttcagaacactt							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:186673634_186673634CA>C	uc002upl.3	+	16	19868	c.19868_19868CA>C	c.(19867-19869)ccafs	p.P6623fs	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.									p.P1232Q(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAATAGATCCAAAAATTATT	0.318													-	186673635	A	-	186673635	7	5	12	1	0	1	0	1	0	0	0	0	6075	117	5	0	19935	0	FSIP2	2	186673635	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	871872	186673635	56525738	202	10210											
COL3A1	1281	broad.mit.edu	37	chr2	189861201	189861201	+	Frame_Shift_Del	DEL	C	C	-													cagcctggtgtcatgggcttCcccggtcctaaaggaaatga							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:189861201delC	uc002uqj.1	+	24	1857	c.1740delC	c.(1738-1740)TTCfs	p.F580fs		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	580	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCATGGGCTTCCCCGGTCCTA	0.423													-	189861201	C	-	189861201	7	5	12	1	0	1	0	1	0	0	0	0	3688	854	30	0	1834	0	COL3A1	2	189861201	Frame_Shift_Del	DEL	C	TCGA-BR-4257-01A-01D-1126-08	3187566	189861201	53338172	203	10211											
ANKRD44	91526	broad.mit.edu	37	chr2	197975571	197975571	+	Splice_Site	DEL	A	A	-													acttttgccatctttactctAaaaaaaagagagggagagaa							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:197975570_197975570TA>T	uc021vuj.1	-	9	1100	c.907_splice	c.e9-1	p.S303_splice	ANKRD44_uc002utz.4_Splice_Site|ANKRD44_uc021vuk.1_Splice_Site_p.S278_splice|ANKRD44_uc002uub.3_Splice_Site_p.S303_splice|ANKRD44_uc010zgw.2_Splice_Site_p.S231_splice|ANKRD44_uc002uuc.3_Splice_Site_p.S303_splice	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	303							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATCTTTACTCTAAAAAAAAGA	0.448													-	197975571	A	-	197975571	8	5	12	1	0	1	0	1	0	0	1	0	672	377	13	0		0	ANKRD44	2	197975571	Splice_Site	DEL	A	TCGA-BR-4257-01A-01D-1126-08	8114370	197975571	45223802	204	10212											
FAM126B	285172	broad.mit.edu	37	chr2	201846082	201846082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgaggagctctttaccttCgccagcttgacctagccggt	11	13	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:201846082C>T	uc002uws.3	-	12	1692	c.1504G>A	c.(1504-1506)GAA>AAA	p.E502K	FAM126B_uc002uwu.2_Missense_Mutation_p.E476K|FAM126B_uc002uwv.2_Missense_Mutation_p.E502K	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	hypothetical protein LOC285172	502						intracellular				ovary(1)	1						TCTTTACCTTCGCCAGCTTGA	0.507													T	201846082	C	T	201846082	3	4	12	1	0	0	0	0	1	0	0	0	5430	893	31	1	92	1	FAM126B	2	201846082	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3870511	201846082	41353291	205	10213											
BMPR2	659	broad.mit.edu	37	chr2	203420873	203420873	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacccaatatgccaatgggAcagtactatctggccaaaca	7	12	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:203420873A>G	uc002uzf.3	+	12	3633	c.2485A>G	c.(2485-2487)ACA>GCA	p.T829A	BMPR2_uc010ftr.2_Intron	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	829	Cytoplasmic (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						TGCCAATGGGACAGTACTATC	0.468													G	203420873	A	G	203420873	3	3	12	1	0	0	0	0	1	0	0	0	1471	275	10	3	2531	3	BMPR2	2	203420873	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1574791	203420873	39778500	206	10214											
NRP2	8828	broad.mit.edu	37	chr2	206592721	206592721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctacaagctggaagtcaGcactaatggagaggactgga	12	8	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:206592721G>A	uc002vaw.2	+	7	1888	c.1097G>A	c.(1096-1098)AGC>AAC	p.S366N	NRP2_uc002vat.2_Missense_Mutation_p.S366N|NRP2_uc002vau.2_Missense_Mutation_p.S366N|NRP2_uc002vav.2_Missense_Mutation_p.S366N|NRP2_uc002vax.2_Missense_Mutation_p.S366N|NRP2_uc002vay.2_Missense_Mutation_p.S366N|NRP2_uc010fud.2_Missense_Mutation_p.S366N	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	366	Extracellular (Potential).|F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4						CTGGAAGTCAGCACTAATGGA	0.498													A	206592721	G	A	206592721	3	1	12	1	0	0	0	0	1	0	0	0	10661	971	34	2	1123	2	NRP2	2	206592721	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	3171848	206592721	36606652	207	10215											
ZDBF2	57683	broad.mit.edu	37	chr2	207171007	207171007	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaacaagttttgattgTgatgtttctcttgagtcagt	9	5	3	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:207171007T>C	uc002vbp.2	+	5	2005	c.1755T>C	c.(1753-1755)TGT>TGC	p.C585C		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	585							nucleic acid binding|zinc ion binding			ovary(3)	3						GTTTTGATTGTGATGTTTCTC	0.423													C	207171007	T	C	207171007	2	2	12	1	0	0	0	0	0	0	0	1	17596	1702	59	3		3	ZDBF2	2	207171007	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	578286	207171007	36028366	208	10216											
ZDBF2	57683	broad.mit.edu	37	chr2	207171142	207171142	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcacatcttgattgtgatgtCtcacttgggacagttgcaga	11	8	2	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:207171142C>A	uc002vbp.2	+	5	2140	c.1890C>A	c.(1888-1890)GTC>GTA	p.V630V		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	630							nucleic acid binding|zinc ion binding			ovary(3)	3						ATTGTGATGTCTCACTTGGGA	0.418													A	207171142	C	A	207171142	2	1	12	1	0	0	0	0	0	0	0	1	17596	900	32	5		5	ZDBF2	2	207171142	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	135	207171142	36028231	209	10217											
MAP2	4133	broad.mit.edu	37	chr2	210518129	210518129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatgggatcaacggagagCtgacctcagctgacagagaa	13	8	2	5			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:210518129C>T	uc002vde.1	+	4	483	c.235C>T	c.(235-237)CTG>TTG	p.L79L	MAP2_uc002vdc.1_Silent_p.L79L|MAP2_uc002vdd.1_Silent_p.L79L|MAP2_uc002vdf.1_Silent_p.L79L|MAP2_uc002vdg.1_Silent_p.L79L|MAP2_uc002vdh.1_Silent_p.L79L|MAP2_uc002vdi.1_Silent_p.L79L	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	79					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CAACGGAGAGCTGACCTCAGC	0.468													T	210518129	C	T	210518129	2	4	12	1	0	0	0	0	0	0	0	1	9235	796	28	2		2	MAP2	2	210518129	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3346987	210518129	32681244	210	10218											
ACADL	33	broad.mit.edu	37	chr2	211082788	211082788	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccttgttttccagcttttTcccaaacctccctacttact	3	15	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:211082788T>C	uc002vdz.3	-	3	500	c.272A>G	c.(271-273)GAA>GGA	p.E91G	ACADL_uc010zjg.1_Missense_Mutation_p.E91G	NM_001608	NP_001599	P28330	ACADL_HUMAN	long-chain acyl-CoA dehydrogenase precursor	91					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity				0		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TCCAGCTTTTTCCCAAACCTC	0.388													C	211082788	T	C	211082788	3	2	12	1	0	0	0	0	1	0	0	0	112	1783	62	3	1056	3	ACADL	2	211082788	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	564659	211082788	32116585	211	10219											
ERBB4	2066	broad.mit.edu	37	chr2	212288922	212288922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaatagtgcagatgggagGctgaggcaaacgttctcctt	13	8	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:212288922G>A	uc002veg.1	-	23	2922	c.2824C>T	c.(2824-2826)CCT>TCT	p.P942S	ERBB4_uc002veh.1_Missense_Mutation_p.P942S|ERBB4_uc010zji.1_Missense_Mutation_p.P932S|ERBB4_uc010zjj.1_Missense_Mutation_p.P932S	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	942	Protein kinase.|Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAGATGGGAGGCTGAGGCAAA	0.393										TSP Lung(8;0.080)			A	212288922	G	A	212288922	3	1	12	1	0	0	0	0	1	0	0	0	5209	1203	42	2	1126	2	ERBB4	2	212288922	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1206134	212288922	30910451	212	10220											
ERBB4	2066	broad.mit.edu	37	chr2	212652859	212652859	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaggaatttgttctggtcTacatagactccaccatttag	7	9	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:212652859T>C	uc002veg.1	-	4	545	c.447A>G	c.(445-447)GTA>GTG	p.V149V	ERBB4_uc002veh.1_Silent_p.V149V|ERBB4_uc010zji.1_Silent_p.V149V|ERBB4_uc010zjj.1_Silent_p.V149V|ERBB4_uc010fut.1_Silent_p.V149V	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	149	Extracellular (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGTTCTGGTCTACATAGACTC	0.343										TSP Lung(8;0.080)			C	212652859	T	C	212652859	2	2	12	1	0	0	0	0	0	0	0	1	5209	1509	53	3		3	ERBB4	2	212652859	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	363937	212652859	30546514	213	10221											
FN1	2335	broad.mit.edu	37	chr2	216253000	216253000	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacactggagacactcactAcatattctgtaccaggcagg	9	11	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:216253000A>G	uc002vfa.2	-	27	4543	c.4277T>C	c.(4276-4278)GTA>GCA	p.V1426A	FN1_uc002vfb.2_Missense_Mutation_p.V1335A|FN1_uc002vfc.2_Missense_Mutation_p.V1335A|FN1_uc002vfd.2_Missense_Mutation_p.V1426A|FN1_uc002vfe.2_Missense_Mutation_p.V1335A|FN1_uc002vff.2_Missense_Mutation_p.V1335A|FN1_uc002vfg.2_Missense_Mutation_p.V1335A|FN1_uc002vfh.2_Missense_Mutation_p.V1335A|FN1_uc002vfi.2_Missense_Mutation_p.V1426A|FN1_uc002vfj.2_Missense_Mutation_p.V1426A|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Missense_Mutation_p.V53A	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1425	Fibronectin type-III 9.|Cell-attachment.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACACTCACTACATATTCTGT	0.453													G	216253000	A	G	216253000	3	3	12	1	0	0	0	0	1	0	0	0	5962	391	14	3	3236	3	FN1	2	216253000	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	3600141	216253000	26946373	214	10222											
AAMP	14	broad.mit.edu	37	chr2	219134766	219134766	+	Frame_Shift_Del	DEL	G	G	-													ggaagcttagggtctccagtGggggggtgtcagcagcagcc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:219134765_219134765TG>T	uc002vhl.3	-	0	129	c.45_45CA>A	c.(43-45)ccafs	p.P15fs	PNKD_uc002vhn.3_5'Flank|AAMP_uc002vhk.3_Frame_Shift_Del_p.P15fs|PNKD_uc002vhm.2_5'Flank	NM_001087	NP_001078	Q13685	AAMP_HUMAN	Homo sapiens angio-associated, migratory cell protein (AAMP), mRNA.	15					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGTCTCCAGTGGGGGGGTGT	0.622													-	219134766	G	-	219134766	7	5	12	1	0	1	0	1	0	0	0	0	17	1348	47	0	1304	0	AAMP	2	219134766	Frame_Shift_Del	DEL	G	TCGA-BR-4257-01A-01D-1126-08	2881766	219134766	24064607	215	10223											
PRKAG3	53632	broad.mit.edu	37	chr2	219689020	219689020	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggactccctccagacaTagtgtcctctgcctcagggc	10	14	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:219689020T>C	uc002vjb.1	-	12	1297	c.1278A>G	c.(1276-1278)CTA>CTG	p.L426L		NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	AMP-activated protein kinase, non-catalytic	426					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			ovary(1)|lung(1)	2		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCCAGACATAGTGTCCTCT	0.592													C	219689020	T	C	219689020	2	2	12	1	0	0	0	0	0	0	0	1	12502	1393	49	3		3	PRKAG3	2	219689020	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	554254	219689020	23510353	216	10224											
SPEG	10290	broad.mit.edu	37	chr2	220353849	220353849	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacccacctgccagttggCgtgactgtgaggttccgtgt	14	11	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:220353849C>T	uc010fwg.2	+	35	8223	c.8223C>T	c.(8221-8223)GGC>GGT	p.G2741G		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2741	Fibronectin type-III 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGCCAGTTGGCGTGACTGTGA	0.592													T	220353849	C	T	220353849	2	4	12	1	0	0	0	0	0	0	0	1	15035	755	27	1		1	SPEG	2	220353849	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	664829	220353849	22845524	217	10225											
SLC4A3	6508	broad.mit.edu	37	chr2	220497729	220497729	+	Frame_Shift_Del	DEL	C	C	-													cgtaccctgctactgaagcaCaggtgccggggtgggtccct							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:220497729delC	uc002vmp.3	+	9	1544	c.1275delC	c.(1273-1275)CACfs	p.H425fs	SLC4A3_uc002vmo.3_Frame_Shift_Del_p.H452fs|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'UTR	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	425	Cytoplasmic.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TACTGAAGCACAGGTGCCGGG	0.512													-	220497729	C	-	220497729	7	5	12	1	0	1	0	1	0	0	0	0	14655	477	17	0	1386	0	SLC4A3	2	220497729	Frame_Shift_Del	DEL	C	TCGA-BR-4257-01A-01D-1126-08	143880	220497729	22701644	218	10226											
FARSB	10056	broad.mit.edu	37	chr2	223478636	223478636	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaggccaggaagaagggtAgtgcgtgccacctacaggaa	16	8	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:223478636A>G	uc002vne.1	-	15	1391	c.1356T>C	c.(1354-1356)ACT>ACC	p.T452T	FARSB_uc010zlq.1_Silent_p.T472T|FARSB_uc002vnf.1_Silent_p.T353T	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	452					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GAAGAAGGGTAGTGCGTGCCA	0.423													G	223478636	A	G	223478636	2	3	12	1	0	0	0	0	0	0	0	1	5680	407	15	3		3	FARSB	2	223478636	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2980907	223478636	19720737	219	10227											
CUL3	8452	broad.mit.edu	37	chr2	225376238	225376238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatttcttcattaattctaGcttctactttctttatatat	1	8	5	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:225376238G>A	uc002vny.2	-	6	1100	c.716C>T	c.(715-717)GCT>GTT	p.A239V	CUL3_uc010zls.1_Missense_Mutation_p.A173V|CUL3_uc010fwy.1_Missense_Mutation_p.A245V	NM_003590	NP_003581	Q13618	CUL3_HUMAN	cullin 3	239					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATTAATTCTAGCTTCTACTTT	0.323													A	225376238	G	A	225376238	3	1	12	1	0	0	0	0	1	0	0	0	4056	971	34	2	1634	2	CUL3	2	225376238	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1897602	225376238	17823135	220	10228											
COL4A4	1286	broad.mit.edu	37	chr2	227892635	227892635	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacccggaagaccagtgggcCcttttctccctggaggtcca	11	15	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:227892635C>A	uc010zlt.1	-	42	4718	c.4064G>T	c.(4063-4065)GGG>GTG	p.G1355V		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	1355	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCAGTGGGCCCTTTTCTCCC	0.463													A	227892635	C	A	227892635	3	1	12	1	0	0	0	0	1	0	0	0	3693	623	22	5	1036	5	COL4A4	2	227892635	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2516397	227892635	15306738	221	10229											
SP110	3431	broad.mit.edu	37	chr2	231042314	231042314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgtttccagttctttgcGttccttccttttccttcgac	5	14	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:231042314G>A	uc002vqh.3	-	14	1770	c.1530C>T	c.(1528-1530)AAC>AAT	p.N510N	SP110_uc002vqg.3_Silent_p.N510N|SP110_uc002vqi.3_Silent_p.N510N|SP110_uc010fxk.2_Silent_p.N508N|SP110_uc010fxj.2_Silent_p.N153N	NM_004509	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform a	510	SAND.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		AGTTCTTTGCGTTCCTTCCTT	0.423													A	231042314	G	A	231042314	2	1	12	1	0	0	0	0	0	0	0	1	14961	1136	40	1		1	SP110	2	231042314	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	3149679	231042314	12157059	222	10230											
ALPP	250	broad.mit.edu	37	chr2	233243931	233243931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgggggtgtctacggtgaCagctgccaggatcctaaaag	15	8	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:233243931C>T	uc002vsq.2	+	3	380	c.215C>T	c.(214-216)ACA>ATA	p.T72I	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	72						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TCTACGGTGACAGCTGCCAGG	0.597													T	233243931	C	T	233243931	3	4	12	1	0	0	0	0	1	0	0	0	548	478	17	4	225	4	ALPP	2	233243931	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2201617	233243931	9955442	223	10231											
ALPP	250	broad.mit.edu	37	chr2	233245422	233245422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgacagaggctgccctgCgcctgctgagcaggaacccc	13	14	0	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:233245422C>T	uc002vsq.2	+	8	1120	c.955C>T	c.(955-957)CGC>TGC	p.R319C	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	319						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGCTGCCCTGCGCCTGCTGAG	0.632													T	233245422	C	T	233245422	3	4	12	1	0	0	0	0	1	0	0	0	548	768	27	1	985	1	ALPP	2	233245422	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1491	233245422	9953951	224	10232											
GIGYF2	26058	broad.mit.edu	37	chr2	233671202	233671202	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaattggtgctgttataggTcccttcaataatcaggagat	9	6	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:233671202T>C	uc002vti.3	+	17	1978	c.1641T>C	c.(1639-1641)GGT>GGC	p.G547G	GIGYF2_uc010zmj.1_Silent_p.G547G|GIGYF2_uc002vtg.2_Silent_p.G541G|GIGYF2_uc002vtj.3_Silent_p.G568G|GIGYF2_uc002vtk.3_Silent_p.G547G|GIGYF2_uc002vth.3_Silent_p.G541G|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Silent_p.G378G	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	547	GYF.|Required for GRB10-binding (By similarity).				cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CTGTTATAGGTCCCTTCAATA	0.398													C	233671202	T	C	233671202	2	2	12	1	0	0	0	0	0	0	0	1	6378	1681	58	3		3	GIGYF2	2	233671202	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	425780	233671202	9528171	225	10233											
COL6A3	1293	broad.mit.edu	37	chr2	238289897	238289897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgtgtacagggccgagcCgtccaggggcttcattttcc	13	14	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:238289897C>T	uc002vwl.2	-	5	1843	c.1558G>A	c.(1558-1560)GGC>AGC	p.G520S	COL6A3_uc002vwo.2_Missense_Mutation_p.G314S|COL6A3_uc010znj.1_Missense_Mutation_p.G113S|COL6A3_uc002vwq.2_Missense_Mutation_p.G314S|COL6A3_uc002vwr.2_Missense_Mutation_p.G113S|COL6A3_uc010znk.1_Missense_Mutation_p.G520S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	520	VWFA 3.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGGCCGAGCCGTCCAGGGGC	0.522													T	238289897	C	T	238289897	3	4	12	1	0	0	0	0	1	0	0	0	3701	652	23	1	8182	1	COL6A3	2	238289897	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	4618695	238289897	4909476	226	10234											
RNPEPL1	57140	broad.mit.edu	37	chr2	241516115	241516115	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcgccattgacatctcCaagtggaggaccttccagac	10	14	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:241516115C>T	uc002vzi.2	+	9	1574	c.981C>T	c.(979-981)TCC>TCT	p.S327S	RNPEPL1_uc010fzf.2_Silent_p.S233S|RNPEPL1_uc002vzj.2_5'UTR	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like	327					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		TTGACATCTCCAAGTGGAGGA	0.672													T	241516115	C	T	241516115	2	4	12	1	0	0	0	0	0	0	0	1	13510	581	21	4		4	RNPEPL1	2	241516115	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3226218	241516115	1683258	227	10235											
AQP12B	653437	broad.mit.edu	37	chr2	241622123	241622123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcaggccccgagctgcacCgcgcccaccgcctcccgggc	12	21	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:241622123C>T	uc010fzj.2	-	1	195	c.132G>A	c.(130-132)GCG>GCA	p.A44A	AQP12B_uc002vzt.2_Intron	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN	aquaporin 12B	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to membrane	transporter activity				0		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CGAGCTGCACCGCGCCCACCG	0.687													T	241622123	C	T	241622123	2	4	12	1	0	0	0	0	0	0	0	1	825	639	23	1		1	AQP12B	2	241622123	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	106008	241622123	1577250	228	10236											
HDLBP	3069	broad.mit.edu	37	chr2	242187691	242187691	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcacgaatttcacggatccGttcacccttctgcccaatga	7	14	4	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:242187691G>C	uc002waz.2	-	13	1813	c.1585C>G	c.(1585-1587)CGG>GGG	p.R529G	HDLBP_uc002wba.2_Missense_Mutation_p.R529G|HDLBP_uc002wbb.2_Missense_Mutation_p.R481G	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	529	KH 6.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TCACGGATCCGTTCACCCTTC	0.388													C	242187691	G	C	242187691	3	2	12	1	0	0	0	0	1	0	0	0	7025	1144	40	5	2285	5	HDLBP	2	242187691	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	565568	242187691	1011682	229	10237											
LRRN1	57633	broad.mit.edu	37	chr3	3886509	3886509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttgattgcaatgacctcCgcttaacaaggattcccagt	8	11	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:3886509C>T	uc003bpt.3	+	2	945	c.184C>T	c.(184-186)CGC>TGC	p.R62C	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	62	LRRNT.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CAATGACCTCCGCTTAACAAG	0.458													T	3886509	C	T	3886509	3	4	12	1	0	0	0	0	1	0	0	0	9034	652	23	1	186	1	LRRN1	3	3886509	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08		3886509	194135921	230	10238											
EDEM1	9695	broad.mit.edu	37	chr3	5244713	5244713	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatgcacagcgggagccggTtccctcctggtggaatttgg	14	11	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:5244713T>C	uc003bqi.2	+	5	1053	c.921T>C	c.(919-921)GGT>GGC	p.G307G	EDEM1_uc011asz.1_Silent_p.G85G|EDEM1_uc003bqh.2_Silent_p.G307G	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like	307	Lumenal (Potential).				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			ovary(2)|breast(1)	3				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		CGGGAGCCGGTTCCCTCCTGG	0.532													C	5244713	T	C	5244713	2	2	12	1	0	0	0	0	0	0	0	1	4911	1712	60	3		3	EDEM1	3	5244713	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1358204	5244713	192777717	231	10239											
GRM7	2917	broad.mit.edu	37	chr3	6903265	6903265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacgccaagggtcccagcGgagtgccctgcggcgacatc	14	15	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:6903265G>A	uc003bqm.2	+	1	464	c.190G>A	c.(190-192)GGA>AGA	p.G64R	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.G64R|GRM7_uc003bql.2_Missense_Mutation_p.G64R	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	64	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	GGGTCCCAGCGGAGTGCCCTG	0.662													A	6903265	G	A	6903265	3	1	12	1	0	0	0	0	1	0	0	0	6802	1117	39	1	192	1	GRM7	3	6903265	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1658552	6903265	191119165	232	10240											
TADA3	10474	broad.mit.edu	37	chr3	9822157	9822157	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccatgatcttgcgaaAggcgtccatgacctcgttgt	12	11	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:9822157A>C	uc003bsx.1	-	9	1731	c.1183T>G	c.(1183-1185)TTT>GTT	p.F395V	TADA3_uc010hcn.1_Missense_Mutation_p.F395V|TADA3_uc003bsw.1_Missense_Mutation_p.F224V	NM_006354	NP_006345	O75528	TADA3_HUMAN	transcriptional adaptor 3 isoform a	395	Potential.				estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity				0						ATCTTGCGAAAGGCGTCCATG	0.612													C	9822157	A	C	9822157	3	2	12	1	0	0	0	0	1	0	0	0	15509	72	3	5	119	5	TADA3	3	9822157	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2918892	9822157	188200273	233	10241											
SEC13	6396	broad.mit.edu	37	chr3	10346789	10346789	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccacatctcgaacccagtcActgtgcgcttctagcttctg	8	15	4	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:10346789A>C	uc003bvn.2	-	7	755	c.636T>G	c.(634-636)AGT>AGG	p.S212R	SEC13_uc003bvl.2_Missense_Mutation_p.S144R|SEC13_uc003bvm.2_Missense_Mutation_p.S198R|SEC13_uc003bvp.2_Missense_Mutation_p.S215R|SEC13_uc003bvo.2_Missense_Mutation_p.S258R|SEC13_uc003bvq.1_Missense_Mutation_p.S198R|SEC13_uc003bvr.1_Missense_Mutation_p.S198R	NM_183352	NP_899195	P55735	SEC13_HUMAN	SEC13 protein isoform 1	212	WD 5.				COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			ovary(1)	1						GAACCCAGTCACTGTGCGCTT	0.632													C	10346789	A	C	10346789	3	2	12	1	0	0	0	0	1	0	0	0	13980	156	6	5	344	5	SEC13	3	10346789	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	524632	10346789	187675641	234	10242											
ATP2B2	491	broad.mit.edu	37	chr3	10382234	10382234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggggttccggaagatgccGtcaaagacattgcgctcgcc	13	11	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:10382234G>A	uc003bvt.2	-	20	3511	c.3072C>T	c.(3070-3072)GAC>GAT	p.D1024D	ATP2B2_uc003bvv.2_Silent_p.D979D|ATP2B2_uc003bvw.2_Silent_p.D979D|ATP2B2_uc010hdo.2_Silent_p.D729D	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	1024	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GGAAGATGCCGTCAAAGACAT	0.572													A	10382234	G	A	10382234	2	1	12	1	0	0	0	0	0	0	0	1	1140	1136	40	1		1	ATP2B2	3	10382234	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	35445	10382234	187640196	235	10243											
ATP2B2	491	broad.mit.edu	37	chr3	10387133	10387133	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgacggtgagctggaactGcaagaatttggagatgctgt	15	5	0	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:10387133G>A	uc003bvt.2	-	18	3077	c.2638C>T	c.(2638-2640)CAG>TAG	p.Q880*	ATP2B2_uc003bvv.2_Nonsense_Mutation_p.Q835*|ATP2B2_uc003bvw.2_Nonsense_Mutation_p.Q835*|ATP2B2_uc010hdo.2_Nonsense_Mutation_p.Q585*	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	880	Helical; (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						AGCTGGAACTGCAAGAATTTG	0.582													A	10387133	G	A	10387133	4	1	12	1	0	0	0	0	0	1	0	0	1140	1328	46	2	1117	2	ATP2B2	3	10387133	Nonsense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	4899	10387133	187635297	236	10244											
NUP210	23225	broad.mit.edu	37	chr3	13383334	13383334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctggccgatggccacacCgcggatgaggaatgtgatgg	17	9	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:13383334C>T	uc003bxv.1	-	23	3225	c.3142G>A	c.(3142-3144)GGT>AGT	p.G1048S		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1048	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					ATGGCCACACCGCGGATGAGG	0.527													T	13383334	C	T	13383334	3	4	12	1	0	0	0	0	1	0	0	0	10760	652	23	1	2593	1	NUP210	3	13383334	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2996201	13383334	184639096	237	10245											
C3orf20	84077	broad.mit.edu	37	chr3	14744763	14744763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagctgcaggagttgtgtcGccacatgtgagcacctcagt	13	10	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:14744763G>A	uc003byy.2	+	6	1276	c.872G>A	c.(871-873)CGC>CAC	p.R291H	C3orf20_uc003byz.2_Missense_Mutation_p.R169H|C3orf20_uc003bza.2_Missense_Mutation_p.R169H|C3orf20_uc003byx.1_Missense_Mutation_p.R291H	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	291						cytoplasm|integral to membrane				ovary(3)|skin(1)	4						GAGTTGTGTCGCCACATGTGA	0.627													A	14744763	G	A	14744763	3	1	12	1	0	0	0	0	1	0	0	0	2213	1087	38	1	886	1	C3orf20	3	14744763	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1361429	14744763	183277667	238	10246											
FGD5	152273	broad.mit.edu	37	chr3	14939591	14939591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggctggcagctgctgtcCgtgaatttgaggtgggtccc	15	12	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:14939591C>T	uc003bzc.2	+	6	3165	c.3055C>T	c.(3055-3057)CGT>TGT	p.R1019C	FGD5_uc011avk.1_Missense_Mutation_p.R1019C|FGD5_uc003bzd.2_Missense_Mutation_p.R97C	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1019	DH.				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						AGCTGCTGTCCGTGAATTTGA	0.567													T	14939591	C	T	14939591	3	4	12	1	0	0	0	0	1	0	0	0	5836	652	23	1	3077	1	FGD5	3	14939591	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	194828	14939591	183082839	239	10247											
RARB	5915	broad.mit.edu	37	chr3	25502773	25502773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgtacaaaccctgcttcGtctgccaggacaaatcatca	8	12	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:25502773G>A	uc011awl.1	+	2	334	c.268G>A	c.(268-270)GTC>ATC	p.V90I	RARB_uc003cdi.1_5'UTR|RARB_uc003cdh.2_Missense_Mutation_p.V83I	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	90	NR C4-type.|Nuclear receptor.		V -> I (in a colorectal cancer sample; somatic mutation).		embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.V83I(1)		ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ACCCTGCTTCGTCTGCCAGGA	0.517													A	25502773	G	A	25502773	3	1	12	1	0	0	0	0	1	0	0	0	13053	1145	40	1	253	1	RARB	3	25502773	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	10563182	25502773	172519657	240	10248											
TOP2B	7155	broad.mit.edu	37	chr3	25665821	25665821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatataacgagggcttgcaGcatctttgccaccatgaagc	9	10	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:25665821G>A	uc011awn.1	-	20	2505	c.2462C>T	c.(2461-2463)GCT>GTT	p.A821V	TOP2B_uc003cdj.2_Missense_Mutation_p.A816V	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	821					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						AGGGCTTGCAGCATCTTTGCC	0.363													A	25665821	G	A	25665821	3	1	12	1	0	0	0	0	1	0	0	0	16363	971	34	2	2486	2	TOP2B	3	25665821	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	163048	25665821	172356609	241	10249											
LRRC3B	116135	broad.mit.edu	37	chr3	26751789	26751789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgattatgccatgctggtcaCcatgtttggctggttcacta	10	10	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:26751789C>T	uc003cdp.2	+	2	1215	c.626C>T	c.(625-627)ACC>ATC	p.T209I	LRRC3B_uc003cdq.2_Missense_Mutation_p.T209I	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B precursor	209	Helical; (Potential).					integral to membrane				pancreas(2)|ovary(1)|skin(1)	4						ATGCTGGTCACCATGTTTGGC	0.468													T	26751789	C	T	26751789	3	4	12	1	0	0	0	0	1	0	0	0	8996	507	18	4	628	4	LRRC3B	3	26751789	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1085968	26751789	171270641	242	10250											
SLC4A7	9497	broad.mit.edu	37	chr3	27453218	27453218	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggggtagatccattgtgaaAcacaggaatctttctctttt	10	7	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:27453218A>G	uc003cdv.2	-	12	1725	c.1654T>C	c.(1654-1656)TTT>CTT	p.F552L	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.F433L|SLC4A7_uc011aww.1_Missense_Mutation_p.F561L|SLC4A7_uc011awx.1_Missense_Mutation_p.F548L|SLC4A7_uc011awy.1_Missense_Mutation_p.F544L|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.F433L|SLC4A7_uc011axb.1_Missense_Mutation_p.F548L|SLC4A7_uc010hfl.2_Missense_Mutation_p.F102L|SLC4A7_uc003cdw.2_Missense_Mutation_p.F428L	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	552	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						CCATTGTGAAACACAGGAATC	0.413													G	27453218	A	G	27453218	3	3	12	1	0	0	0	0	1	0	0	0	14658	43	2	3	2046	3	SLC4A7	3	27453218	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	701429	27453218	170569212	243	10251											
SLC4A7	9497	broad.mit.edu	37	chr3	27463207	27463207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctttccaaaaagtctacttCgcccaccaggacgttggatg	8	13	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:27463207C>T	uc003cdv.2	-	9	1374	c.1303G>A	c.(1303-1305)GAA>AAA	p.E435K	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.E316K|SLC4A7_uc011aww.1_Missense_Mutation_p.E444K|SLC4A7_uc011awx.1_Missense_Mutation_p.E431K|SLC4A7_uc011awy.1_Missense_Mutation_p.E427K|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.E316K|SLC4A7_uc011axb.1_Missense_Mutation_p.E431K|SLC4A7_uc010hfl.2_Intron|SLC4A7_uc003cdw.2_Missense_Mutation_p.E311K	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	435	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						AAGTCTACTTCGCCCACCAGG	0.423													T	27463207	C	T	27463207	3	4	12	1	0	0	0	0	1	0	0	0	14658	893	31	1	2409	1	SLC4A7	3	27463207	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	9989	27463207	170559223	244	10252											
CNOT10	25904	broad.mit.edu	37	chr3	32769301	32769301	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattgaagctgttcaggtttAtcatgcaaatcctcgcctct	8	10	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:32769301A>G	uc003cfc.1	+	10	1409	c.1154A>G	c.(1153-1155)TAT>TGT	p.Y385C	CNOT10_uc011axi.1_Missense_Mutation_p.Y157C|CNOT10_uc003cfd.1_Missense_Mutation_p.Y384C|CNOT10_uc003cfe.1_Missense_Mutation_p.Y385C|CNOT10_uc010hfv.1_RNA|CNOT10_uc011axj.1_Missense_Mutation_p.Y445C|CNOT10_uc010hfw.1_Missense_Mutation_p.Y80C	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	385					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			central_nervous_system(1)|skin(1)	2						GTTCAGGTTTATCATGCAAAT	0.453													G	32769301	A	G	32769301	3	3	12	1	0	0	0	0	1	0	0	0	3618	449	16	3	1192	3	CNOT10	3	32769301	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	5306094	32769301	165253129	245	10253											
CNOT10	25904	broad.mit.edu	37	chr3	32800967	32800967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtgctccatacttgcttGcagtgcctacgtggctctgg	12	11	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:32800967G>A	uc003cfc.1	+	14	1868	c.1613G>A	c.(1612-1614)TGC>TAC	p.C538Y	CNOT10_uc011axi.1_Missense_Mutation_p.C310Y|CNOT10_uc003cfd.1_Missense_Mutation_p.C537Y|CNOT10_uc003cfe.1_Missense_Mutation_p.C511Y|CNOT10_uc010hfv.1_RNA|CNOT10_uc011axj.1_Missense_Mutation_p.C598Y|CNOT10_uc010hfw.1_Missense_Mutation_p.C233Y	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	538					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			central_nervous_system(1)|skin(1)	2						ATACTTGCTTGCAGTGCCTAC	0.418													A	32800967	G	A	32800967	3	1	12	1	0	0	0	0	1	0	0	0	3618	1319	46	2	1667	2	CNOT10	3	32800967	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	31666	32800967	165221463	246	10254											
TMPPE	643853	broad.mit.edu	37	chr3	33134737	33134737	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactcccactgccactgccAccaccaccacgttgggcccg	7	21	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:33134737A>G	uc003cfk.2	-	2	1142	c.951T>C	c.(949-951)GGT>GGC	p.G317G	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Silent_p.G180G	NM_001039770	NP_001034859	Q6ZT21	TMPPE_HUMAN	transmembrane protein with	317						integral to membrane	metal ion binding				0						TGCCACTGCCACCACCACCAC	0.547													G	33134737	A	G	33134737	2	3	12	1	0	0	0	0	0	0	0	1	16235	146	6	3		3	TMPPE	3	33134737	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	333770	33134737	164887693	247	10255											
CRTAP	10491	broad.mit.edu	37	chr3	33165913	33165913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttcagagcctgttcatccGagcagtgcgggcatacaacg	11	12	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:33165913G>A	uc003cfl.3	+	3	755	c.635G>A	c.(634-636)CGA>CAA	p.R212Q	CRTAP_uc010hfz.2_Missense_Mutation_p.R212Q|CRTAP_uc003cfm.2_Missense_Mutation_p.R33Q|CRTAP_uc003cfn.2_Missense_Mutation_p.R33Q	NM_006371	NP_006362	O75718	CRTAP_HUMAN	cartilage associated protein precursor	212						proteinaceous extracellular matrix	binding				0						CTGTTCATCCGAGCAGTGCGG	0.532													A	33165913	G	A	33165913	3	1	12	1	0	0	0	0	1	0	0	0	3898	1058	37	1	645	1	CRTAP	3	33165913	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	31176	33165913	164856517	248	10256											
SUSD5	26032	broad.mit.edu	37	chr3	33194480	33194480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcctcacttgcacctggCccggggccttcctgtccaaa	9	17	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:33194480C>T	uc003cfo.1	-	5	2062	c.1644G>A	c.(1642-1644)GGG>GGA	p.G548G		NM_015551	NP_056366	O60279	SUSD5_HUMAN	sushi domain containing 5 precursor	548	Extracellular (Potential).				cell adhesion	integral to membrane	hyaluronic acid binding			ovary(1)|central_nervous_system(1)	2						TTGCACCTGGCCCGGGGCCTT	0.587													T	33194480	C	T	33194480	2	4	12	1	0	0	0	0	0	0	0	1	15408	726	26	2		2	SUSD5	3	33194480	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	28567	33194480	164827950	249	10257											
TRANK1	9881	broad.mit.edu	37	chr3	36897095	36897095	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttcctccctaatttcttaTatacttcttcagtgagtctc	4	11	4	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:36897095T>G	uc003cgj.2	-	3	2638	c.2336A>C	c.(2335-2337)TAT>TCT	p.Y779S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1329					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TAATTTCTTATATACTTCTTC	0.453													G	36897095	T	G	36897095	3	3	12	1	0	0	0	0	1	0	0	0	16451	1406	49	5	4839	5	TRANK1	3	36897095	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	3702615	36897095	161125335	250	10258											
ACVR2B	93	broad.mit.edu	37	chr3	38519934	38519934	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgctggagatcaaggcTcgggggcgctttggctgtgt	17	9	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:38519934T>C	uc003cif.2	+	5	615	c.591T>C	c.(589-591)GCT>GCC	p.A197A	ACVR2B_uc003cig.2_5'UTR	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	197	ATP (By similarity).|Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		AGATCAAGGCTCGGGGGCGCT	0.592													C	38519934	T	C	38519934	2	2	12	1	0	0	0	0	0	0	0	1	224	1538	54	3		3	ACVR2B	3	38519934	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1622839	38519934	159502496	251	10259											
SCN10A	6336	broad.mit.edu	37	chr3	38802798	38802798	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaaggcaaaaacacttagGcagaagatggtgaggatggt	13	6	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:38802798G>A	uc003ciq.2	-	6	768	c.768C>T	c.(766-768)TGC>TGT	p.C256C		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	256	Helical; Name=S5 of repeat I; (Potential).|I.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AAACACTTAGGCAGAAGATGG	0.483													A	38802798	G	A	38802798	2	1	12	1	0	0	0	0	0	0	0	1	13912	1195	42	2		2	SCN10A	3	38802798	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	282864	38802798	159219632	252	10260											
C3orf39	84892	broad.mit.edu	37	chr3	43121686	43121686	+	Frame_Shift_Del	DEL	C	C	-													cccggtccagatgggtgatgCccccctgatcccagggccgc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:43121685_43121685GC>G	uc003cmr.1	-	1	1582	c.1239_1239GC>C	c.(1237-1239)ggcfs	p.G413fs	C3orf39_uc003cmq.1_Frame_Shift_Del_p.G413fs|C3orf39_uc021wwn.1_Frame_Shift_Del_p.G413fs	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	Homo sapiens chromosome 3 open reading frame 39 (C3orf39), mRNA.	413						extracellular region	transferase activity, transferring glycosyl groups			cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		GATGGGTGATGCCCCCCTGAT	0.617													-	43121686	C	-	43121686	7	5	12	1	0	1	0	1	0	0	0	0	2229	739	26	0	508	0	C3orf39	3	43121686	Frame_Shift_Del	DEL	C	TCGA-BR-4257-01A-01D-1126-08	4318888	43121686	154900744	253	10261											
CCR2	729230	broad.mit.edu	37	chr3	46399085	46399085	+	Frame_Shift_Del	DEL	T	T	-													gcggtgaagaagtcaccaccTtttttgattatgattacggt							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:46399084_46399084CT>C	uc003cpn.4	+	1	551	c.66_66CT>C	c.(64-66)accfs	p.T22fs	CCR2_uc003cpm.4_Frame_Shift_Del_p.T22fs|CCR2_uc021wxa.1_Frame_Shift_Del_p.T22fs	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	22					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		AAGTCACCACCTTTTTTGATT	0.473													-	46399085	T	-	46399085	7	5	12	1	0	1	0	1	0	0	0	0	2941	1609	56	0	69	0	CCR2	3	46399085	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	3277399	46399085	151623345	254	10262											
C3orf75	54859	broad.mit.edu	37	chr3	47537600	47537600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctttggcaaaaaaggacaCgcttttgtcctgtatcttat	7	9	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:47537600C>T	uc003crk.2	-	7	879	c.760G>A	c.(760-762)GTG>ATG	p.V254M	C3orf75_uc003crj.2_Missense_Mutation_p.V181M|C3orf75_uc011bba.1_Missense_Mutation_p.V205M	NM_001031703	NP_001026873	Q0PNE2	CC075_HUMAN	transmembrane protein 103	254											0						AAAAAGGACACGCTTTTGTCC	0.498													T	47537600	C	T	47537600	3	4	12	1	0	0	0	0	1	0	0	0	2245	536	19	1	44	1	C3orf75	3	47537600	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1138515	47537600	150484830	255	10263											
PLXNB1	5364	broad.mit.edu	37	chr3	48459755	48459755	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtctccatgtcccacggAacagtcatacagtaccactg	8	14	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:48459755A>G	uc003csw.2	-	15	3337	c.3067T>C	c.(3067-3069)TCC>CCC	p.S1023P	PLXNB1_uc003csu.2_Missense_Mutation_p.S840P|PLXNB1_uc003csx.2_Missense_Mutation_p.S1023P|PLXNB1_uc010hjx.1_RNA|PLXNB1_uc003csy.1_5'Flank	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1023	Extracellular (Potential).				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGTCCCACGGAACAGTCATAC	0.652													G	48459755	A	G	48459755	3	3	12	1	0	0	0	0	1	0	0	0	12123	246	9	3	3436	3	PLXNB1	3	48459755	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	922155	48459755	149562675	256	10264											
COL7A1	1294	broad.mit.edu	37	chr3	48628013	48628013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacagcaagtggagtttcCggctctaggagttacagaca	13	8	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:48628013C>T	uc003ctz.2	-	14	1786	c.1785G>A	c.(1783-1785)CCG>CCA	p.P595P		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	595	Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTGGAGTTTCCGGCTCTAGGA	0.607													T	48628013	C	T	48628013	2	4	12	1	0	0	0	0	0	0	0	1	3704	639	23	1		1	COL7A1	3	48628013	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	168258	48628013	149394417	257	10265											
P4HTM	54681	broad.mit.edu	37	chr3	49038942	49038942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagatgaaggggttacagCgcagccagatcctgcctact	12	12	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:49038942C>T	uc003cvg.2	+	3	857	c.508C>T	c.(508-510)CGC>TGC	p.R170C	P4HTM_uc003cvh.2_Missense_Mutation_p.R170C|P4HTM_uc010hkm.1_Missense_Mutation_p.R56C	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN	hypoxia-inducible factor prolyl 4-hydroxylase	170	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)|pancreas(1)	2					Vitamin C(DB00126)	GGGGTTACAGCGCAGCCAGAT	0.567													T	49038942	C	T	49038942	3	4	12	1	0	0	0	0	1	0	0	0	11360	768	27	1	518	1	P4HTM	3	49038942	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	410929	49038942	148983488	258	10266											
WDR6	11180	broad.mit.edu	37	chr3	49051263	49051263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccacaggctcagcccacGcactcacagctgtttgtaac	7	16	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:49051263G>A	uc003cvj.2	+	2	2524	c.2386G>A	c.(2386-2388)GCA>ACA	p.A796T	WDR6_uc011bbx.1_3'UTR|WDR6_uc011bby.1_Missense_Mutation_p.A244T|WDR6_uc010hkn.2_Missense_Mutation_p.A740T|WDR6_uc011bbz.1_Missense_Mutation_p.A715T	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	766	WD 12.				cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CTCAGCCCACGCACTCACAGC	0.577											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	49051263	G	A	49051263	3	1	12	1	0	0	0	0	1	0	0	0	17307	1087	38	1	2392	1	WDR6	3	49051263	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	12321	49051263	148971167	259	10267											
BSN	8927	broad.mit.edu	37	chr3	49693858	49693858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaacctgctgctgccaaggCccctggggctgggggccctt	15	14	0	0	rs5848870		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:49693858C>T	uc003cxe.3	+	5	6983	c.6869C>T	c.(6868-6870)GCC>GTC	p.A2290V		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2290					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCTGCCAAGGCCCCTGGGGCT	0.612													T	49693858	C	T	49693858	3	4	12	1	0	0	0	0	1	0	0	0	1530	739	26	2	6887	2	BSN	3	49693858	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	642595	49693858	148328572	260	10268											
MST1	4485	broad.mit.edu	37	chr3	49721545	49721545	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcgggaccttgcgcaTactcggttggggattataat	14	9	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:49721545T>C	uc003cxg.2	-	18	2166	c.2094A>G	c.(2092-2094)GTA>GTG	p.V698V		NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	684	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACCTTGCGCATACTCGGTTGG	0.562													C	49721545	T	C	49721545	2	2	12	1	0	0	0	0	0	0	0	1	9890	1393	49	3		3	MST1	3	49721545	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	27687	49721545	148300885	261	10269											
BAP1	8314	broad.mit.edu	37	chr3	52443885	52443885	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctctccagctccagccagcCcttattcatcttcccgcggg	8	18	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:52443885C>A	uc003ddx.2	-	1	125	c.10G>T	c.(10-12)GGC>TGC	p.G4C	PHF7_uc003ddy.2_5'Flank|PHF7_uc003ddz.2_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	4					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCCAGCCAGCCCTTATTCATC	0.761			N|Mis|F|S|O		uveal melanoma|breast|NSCLC								A	52443885	C	A	52443885	3	1	12	1	0	0	0	0	1	0	0	0	1311	623	22	5	2247	5	BAP1	3	52443885	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2722340	52443885	145578545	262	10270											
SEMA3G	56920	broad.mit.edu	37	chr3	52472110	52472110	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccatcccaggcacagtAtgggtcccgggccaggcagc	14	15	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:52472110A>G	uc003dea.1	-	14	1615	c.1615T>C	c.(1615-1617)TAC>CAC	p.Y539H		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	semaphorin sem2 precursor	539					multicellular organismal development	extracellular region|membrane	receptor activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CAGGCACAGTATGGGTCCCGG	0.672													G	52472110	A	G	52472110	3	3	12	1	0	0	0	0	1	0	0	0	14030	449	16	3	745	3	SEMA3G	3	52472110	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	28225	52472110	145550320	263	10271											
NISCH	11188	broad.mit.edu	37	chr3	52491918	52491918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtaaagcaccgctacagCgacttccatgacctgcatga	8	13	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:52491918C>T	uc011beg.1	+	3	225	c.153C>T	c.(151-153)AGC>AGT	p.S51S	NISCH_uc003ded.3_Silent_p.S51S|NISCH_uc003dec.1_Silent_p.S51S	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	51	PX.|Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		ACCGCTACAGCGACTTCCATG	0.522													T	52491918	C	T	52491918	2	4	12	1	0	0	0	0	0	0	0	1	10432	767	27	1		1	NISCH	3	52491918	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	19808	52491918	145530512	264	10272											
NEK4	6787	broad.mit.edu	37	chr3	52797501	52797501	+	Frame_Shift_Del	DEL	A	A	-													cttacatctttgtggcctccAaaaagaaggagatttgccgc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:52797500_52797500CA>C	uc003dfq.4	-	4	1010	c.807_807TG>G	c.(805-807)ttgfs	p.L269fs	NEK4_uc011bej.2_Frame_Shift_Del_p.L180fs|NEK4_uc003dfr.3_Frame_Shift_Del_p.L269fs	NM_003157	NP_003148	P51957	NEK4_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA.	269					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TTGTGGCCTCCAAAAAGAAGG	0.428													-	52797501	A	-	52797501	7	5	12	1	0	1	0	1	0	0	0	0	10326	131	5	0	1767	0	NEK4	3	52797501	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	305583	52797501	145224929	265	10273											
DNASE1L3	1776	broad.mit.edu	37	chr3	58183580	58183580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttggtgctcttcttcacCgtggtgtcctcttggtcccc	10	14	4	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:58183580C>T	uc003djo.1	-	6	769	c.672G>A	c.(670-672)ACG>ACA	p.T224T	DNASE1L3_uc011bfd.1_Silent_p.T194T|DNASE1L3_uc003djp.1_Silent_p.T224T|DNASE1L3_uc003djq.1_Silent_p.T224T	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3 precursor	224					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TCTTCTTCACCGTGGTGTCCT	0.577													T	58183580	C	T	58183580	2	4	12	1	0	0	0	0	0	0	0	1	4663	639	23	1		1	DNASE1L3	3	58183580	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	5386079	58183580	139838850	266	10274											
ACOX2	8309	broad.mit.edu	37	chr3	58516206	58516206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttgcctgggccggagccGggattggcggcggatgaccg	18	13	0	1	rs138459863		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:58516206G>A	uc003dkl.2	-	8	1154	c.979C>T	c.(979-981)CGG>TGG	p.R327W		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	acyl-Coenzyme A oxidase 2	327					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		GGCCGGAGCCGGGATTGGCGG	0.642													A	58516206	G	A	58516206	3	1	12	1	0	0	0	0	1	0	0	0	159	1115	39	1	1098	1	ACOX2	3	58516206	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	332626	58516206	139506224	267	10275											
SUCLG2	8801	broad.mit.edu	37	chr3	67568743	67568743	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtcctttattccttcAaaaatgtcaatttgctccta	5	10	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:67568743A>G	uc003dna.3	-	6	616	c.588T>C	c.(586-588)TTT>TTC	p.F196F	SUCLG2_uc010hob.2_Silent_p.F77F	NM_003848	NP_003839	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming beta subunit	196	ATP-grasp.				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|skin(1)	2		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	TTATTCCTTCAAAAATGTCAA	0.378													G	67568743	A	G	67568743	2	3	12	1	0	0	0	0	0	0	0	1	15364	127	5	3		3	SUCLG2	3	67568743	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	9052537	67568743	130453687	268	10276											
LMOD3	56203	broad.mit.edu	37	chr3	69171388	69171388	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatctttctgaatcattccCacgggaaggctggggtcagg	13	9	4	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:69171388C>A	uc003dns.2	-	1	359	c.150G>T	c.(148-150)GTG>GTT	p.V50V	LMOD3_uc003dnt.2_Silent_p.V50V	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	50						cytoplasm|cytoskeleton	tropomyosin binding			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GAATCATTCCCACGGGAAGGC	0.443													A	69171388	C	A	69171388	2	1	12	1	0	0	0	0	0	0	0	1	8858	581	21	5		5	LMOD3	3	69171388	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1602645	69171388	128851042	269	10277											
PDZRN3	23024	broad.mit.edu	37	chr3	73433392	73433392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctcctcaaggagttgtcGggggagatctccagggtgag	16	9	3	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:73433392G>A	uc003dpl.1	-	10	2421	c.2325C>T	c.(2323-2325)CCC>CCT	p.P775P	PDZRN3_uc011bgh.1_Silent_p.P432P|PDZRN3_uc010hoe.1_Silent_p.P473P|PDZRN3_uc011bgf.1_Silent_p.P492P|PDZRN3_uc011bgg.1_Silent_p.P495P	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	775							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGGAGTTGTCGGGGGAGATCT	0.647													A	73433392	G	A	73433392	2	1	12	1	0	0	0	0	0	0	0	1	11709	1103	39	1		1	PDZRN3	3	73433392	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	4262004	73433392	124589038	270	10278											
ROBO2	6092	broad.mit.edu	37	chr3	77684125	77684125	+	Frame_Shift_Del	DEL	A	A	-													gtcagaggcctcggcccactAaaaaacacaagggagggcgg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:77684124_77684124TA>T	uc011bgk.2	+	24	4519	c.3876_3876TA>T	c.(3874-3876)actfs	p.T1292fs	ROBO2_uc021xat.1_Frame_Shift_Del_p.T1304fs|ROBO2_uc003dpy.4_Frame_Shift_Del_p.T1288fs|ROBO2_uc003dpz.3_Frame_Shift_Del_p.T1353fs|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1288					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTCGGCCCACTAAAAAACACA	0.502													-	77684125	A	-	77684125	7	5	12	1	0	1	0	1	0	0	0	0	13514	363	13	0	3961	0	ROBO2	3	77684125	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	4250733	77684125	120338305	271	10279											
ROBO1	6091	broad.mit.edu	37	chr3	78663931	78663931	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggcctagggcactgagaCgcatgaaaatgtcgacggcc	15	10	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:78663931C>T	uc003dqe.2	-	28	4510	c.4302G>A	c.(4300-4302)GCG>GCA	p.A1434A	ROBO1_uc003dqb.2_Silent_p.A1395A|ROBO1_uc003dqc.2_Silent_p.A1334A|ROBO1_uc003dqd.2_Silent_p.A1389A|ROBO1_uc010hoh.2_Silent_p.A626A|ROBO1_uc011bgl.1_Silent_p.A1006A	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1434	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGCACTGAGACGCATGAAAAT	0.433													T	78663931	C	T	78663931	2	4	12	1	0	0	0	0	0	0	0	1	13513	523	19	1		1	ROBO1	3	78663931	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	979806	78663931	119358499	272	10280											
EPHA6	285220	broad.mit.edu	37	chr3	96533752	96533752	+	Frame_Shift_Del	DEL	G	G	-													agagagcctaggagaaccatGgggggctgcgaagtccggga							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:96533752delG	uc010how.1	+	1	328	c.285delG	c.(283-285)ATGfs	p.M95fs	EPHA6_uc003drp.1_Frame_Shift_Del_p.M95fs	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	1						integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						GGAGAACCATGGGGGGCTGCG	0.542													-	96533752	G	-	96533752	7	5	12	1	0	1	0	1	0	0	0	0	5171	1348	47	0	287	0	EPHA6	3	96533752	Frame_Shift_Del	DEL	G	TCGA-BR-4257-01A-01D-1126-08	17869821	96533752	101488678	273	10281											
OR5K4	403278	broad.mit.edu	37	chr3	98073327	98073327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataccaattcaaatctttacCattgctactgtcttgatctc	3	11	4	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:98073327C>T	uc011bgv.1	+	1	630	c.630C>T	c.(628-630)ACC>ACT	p.T210T		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K,	210	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						AAATCTTTACCATTGCTACTG	0.348													T	98073327	C	T	98073327	2	4	12	1	0	0	0	0	0	0	0	1	11169	581	21	4		4	OR5K4	3	98073327	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1539575	98073327	99949103	274	10282											
OR5K3	403277	broad.mit.edu	37	chr3	98110293	98110293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgtatgctcgaccaggtGcagttaatgaaggggataaa	12	6	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:98110293G>A	uc011bgw.1	+	1	784	c.784G>A	c.(784-786)GCA>ACA	p.A262T		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TCGACCAGGTGCAGTTAATGA	0.353													A	98110293	G	A	98110293	3	1	12	1	0	0	0	0	1	0	0	0	11168	1319	46	2	786	2	OR5K3	3	98110293	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	36966	98110293	99912137	275	10283											
ST3GAL6	10402	broad.mit.edu	37	chr3	98510829	98510829	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgccaccatgtctttgAtgaataaggtaatatactgt	9	6	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:98510829A>T	uc003dsz.2	+	9	1137	c.901A>T	c.(901-903)ATG>TTG	p.M301L	ST3GAL6_uc003dsy.2_Missense_Mutation_p.M215L|ST3GAL6_uc003dta.2_Missense_Mutation_p.M183L|ST3GAL6_uc003dtb.2_Missense_Mutation_p.M157L|ST3GAL6_uc003dtc.2_Missense_Mutation_p.M301L|ST3GAL6_uc010hpd.2_Missense_Mutation_p.M354L	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	alpha2,3-sialyltransferase VI	301	Lumenal (Potential).				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			ovary(1)	1						CATGTCTTTGATGAATAAGGT	0.358													T	98510829	A	T	98510829	3	4	12	1	0	0	0	0	1	0	0	0	15218	333	12	5	931	5	ST3GAL6	3	98510829	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	400536	98510829	99511601	276	10284											
TBC1D23	55773	broad.mit.edu	37	chr3	100020962	100020962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtaaaatccttgctggaaGcacagaagcagtccattgag	10	9	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:100020962G>A	uc003dtt.2	+	11	1321	c.1144G>A	c.(1144-1146)GCA>ACA	p.A382T	TBC1D23_uc003dts.2_Missense_Mutation_p.A382T	NM_018309	NP_060779	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	382	Rhodanese.					intracellular	Rab GTPase activator activity			ovary(1)|liver(1)	2						CTTGCTGGAAGCACAGAAGCA	0.433													A	100020962	G	A	100020962	3	1	12	1	0	0	0	0	1	0	0	0	15610	971	34	2	1186	2	TBC1D23	3	100020962	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1510133	100020962	98001468	277	10285											
MORC1	27136	broad.mit.edu	37	chr3	108751611	108751611	+	Frame_Shift_Del	DEL	A	A	-													ttagcacaaatccaaatgtcAaaaaattctttttcctgata							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:108751610_108751610CA>C	uc003dxl.3	-	15	1609	c.1522_1522TG>G	c.(1522-1524)gacfs	p.D508fs	MORC1_uc011bhn.2_Frame_Shift_Del_p.D508fs	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	508					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATCCAAATGTCAAAAAATTCT	0.289													-	108751611	A	-	108751611	7	5	12	1	0	1	0	1	0	0	0	0	9701	127	5	0	1485	0	MORC1	3	108751611	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	8730649	108751611	89270819	278	10286											
ZBED2	79413	broad.mit.edu	37	chr3	111312782	111312782	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgcccacgttgaccccAgggccacggctcacctgcct	12	17	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:111312782A>C	uc003dxy.2	-	2	1152	c.267T>G	c.(265-267)CCT>CCG	p.P89P	CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	zinc finger, BED domain containing 2	89	BED-type.						DNA binding|metal ion binding			skin(1)	1						CGTTGACCCCAGGGCCACGGC	0.617													C	111312782	A	C	111312782	2	2	12	1	0	0	0	0	0	0	0	1	17515	175	7	5		5	ZBED2	3	111312782	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2561171	111312782	86709648	279	10287											
SLC9A10	285335	broad.mit.edu	37	chr3	111921157	111921157	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcattatgtctgcttcgccTtggacatagccttttagtat	8	9	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:111921157T>C	uc003dyu.2	-	18	2484	c.2262A>G	c.(2260-2262)CAA>CAG	p.Q754Q	SLC9A10_uc011bhu.1_Silent_p.Q17Q|SLC9A10_uc010hqc.2_Silent_p.Q706Q	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	754					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5						CTGCTTCGCCTTGGACATAGC	0.348													C	111921157	T	C	111921157	2	2	12	1	0	0	0	0	0	0	0	1	14710	1606	56	3		3	SLC9A10	3	111921157	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	608375	111921157	86101273	280	10288											
KIAA2018	205717	broad.mit.edu	37	chr3	113376559	113376559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcttagcagaatccttacGgctttcatggcttggcttta	9	10	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:113376559G>A	uc003eam.2	-	7	4381	c.3970C>T	c.(3970-3972)CGT>TGT	p.R1324C	KIAA2018_uc003eal.2_Missense_Mutation_p.R1268C	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1324					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						GAATCCTTACGGCTTTCATGG	0.438													A	113376559	G	A	113376559	3	1	12	1	0	0	0	0	1	0	0	0	8268	1116	39	1	2771	1	KIAA2018	3	113376559	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1455402	113376559	84645871	281	10289											
QTRTD1	79691	broad.mit.edu	37	chr3	113795686	113795686	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacagccaagcggcctgtgGgtggcttccttctggatggt	15	10	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:113795686G>T	uc003eay.2	+	7	873	c.643G>T	c.(643-645)GGT>TGT	p.G215C	QTRTD1_uc003eaz.2_Missense_Mutation_p.G227C|QTRTD1_uc011biq.1_Missense_Mutation_p.G92C|QTRTD1_uc011bir.1_Missense_Mutation_p.G109C|QTRTD1_uc003eba.2_Missense_Mutation_p.G92C	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain	215					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|skin(1)	2						GCGGCCTGTGGGTGGCTTCCT	0.532													T	113795686	G	T	113795686	3	4	12	1	0	0	0	0	1	0	0	0	12886	1232	43	5	661	5	QTRTD1	3	113795686	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	419127	113795686	84226744	282	10290											
POLQ	10721	broad.mit.edu	37	chr3	121248525	121248525	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtagattataaaactctcGagcaatgatatctgccagct	7	8	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:121248525G>A	uc003eee.3	-	7	1204	c.1075C>T	c.(1075-1077)CGA>TGA	p.R359*		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	359	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TAAAACTCTCGAGCAATGATA	0.358								DNA_polymerases_(catalytic_subunits)					A	121248525	G	A	121248525	4	1	12	1	0	0	0	0	0	1	0	0	12208	1066	37	1	6793	1	POLQ	3	121248525	Nonsense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	7452839	121248525	76773905	283	10291											
DTX3L	151636	broad.mit.edu	37	chr3	122288531	122288531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaccgatggacattgataGcgatgattccaaagcagctt	9	9	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:122288531G>A	uc003efk.2	+	3	1684	c.1595G>A	c.(1594-1596)AGC>AAC	p.S532N	DTX3L_uc010hrj.2_Intron	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	deltex 3-like	532					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)	4				GBM - Glioblastoma multiforme(114;0.0459)		GACATTGATAGCGATGATTCC	0.468													A	122288531	G	A	122288531	3	1	12	1	0	0	0	0	1	0	0	0	4796	971	34	2	1605	2	DTX3L	3	122288531	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1040006	122288531	75733899	284	10292											
DTX3L	151636	broad.mit.edu	37	chr3	122289427	122289427	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgaccaaaagctgattttTacagtggggtactctcgcgt	10	8	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:122289427T>C	uc003efk.2	+	4	2150	c.2061T>C	c.(2059-2061)TTT>TTC	p.F687F	DTX3L_uc010hrj.2_Silent_p.F175F	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	deltex 3-like	687					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)	4				GBM - Glioblastoma multiforme(114;0.0459)		AGCTGATTTTTACAGTGGGGT	0.433													C	122289427	T	C	122289427	2	2	12	1	0	0	0	0	0	0	0	1	4796	1751	61	3		3	DTX3L	3	122289427	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	896	122289427	75733003	285	10293											
KALRN	8997	broad.mit.edu	37	chr3	124215203	124215203	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggggatgggagcagccaAccagacaccatctccattgc	12	13	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:124215203A>G	uc003ehg.2	+	33	4999	c.4872A>G	c.(4870-4872)CAA>CAG	p.Q1624Q	KALRN_uc010hrv.1_Silent_p.Q1615Q|KALRN_uc003ehf.1_Silent_p.Q1624Q|KALRN_uc011bjy.1_Silent_p.Q1615Q	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1624					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GGAGCAGCCAACCAGACACCA	0.537													G	124215203	A	G	124215203	2	3	12	1	0	0	0	0	0	0	0	1	7975	40	2	3		3	KALRN	3	124215203	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1925776	124215203	73807227	286	10294											
HEG1	57493	broad.mit.edu	37	chr3	124731892	124731892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaggtcttcagaatggtaGttgtgaaagttggagacatt	14	3	2	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:124731892G>A	uc003ehs.3	-	6	2599	c.2531C>T	c.(2530-2532)ACT>ATT	p.T844I	HEG1_uc011bke.1_Missense_Mutation_p.T944I	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	844	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						CAGAATGGTAGTTGTGAAAGT	0.502													A	124731892	G	A	124731892	3	1	12	1	0	0	0	0	1	0	0	0	7044	1029	36	4	1662	4	HEG1	3	124731892	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	516689	124731892	73290538	287	10295											
ZNF148	7707	broad.mit.edu	37	chr3	124953119	124953119	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttatgcctttccataTgatatttttgtatgaatctc	4	8	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:124953119T>G	uc003ehx.3	-	8	1208	c.722A>C	c.(721-723)CAT>CCT	p.H241P	SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Missense_Mutation_p.H241P|ZNF148_uc010hsa.2_Missense_Mutation_p.H241P|ZNF148_uc003eia.3_Missense_Mutation_p.H241P|ZNF148_uc003ehy.2_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	241	C2H2-type 3.				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4						CCTTTCCATATGATATTTTTG	0.313													G	124953119	T	G	124953119	3	3	12	1	0	0	0	0	1	0	0	0	17731	1464	51	5	1670	5	ZNF148	3	124953119	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	221227	124953119	73069311	288	10296											
ZXDC	79364	broad.mit.edu	37	chr3	126180390	126180390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcataccaaatagaagttGccagtgcctgcactgagctc	8	12	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:126180390G>A	uc003eiv.2	-	6	2169	c.2115C>T	c.(2113-2115)GGC>GGT	p.G705G	ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Silent_p.G705G	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C isoform 1	705					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.155)		AATAGAAGTTGCCAGTGCCTG	0.522													A	126180390	G	A	126180390	2	1	12	1	0	0	0	0	0	0	0	1	18249	1306	46	2		2	ZXDC	3	126180390	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1227271	126180390	71842040	289	10297											
UROC1	131669	broad.mit.edu	37	chr3	126219539	126219539	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccccaactccaagtagcaccTttcctggaccaggtccttga	7	16	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:126219539T>A	uc003eiz.1	-	11	1176	c.1144A>T	c.(1144-1146)AGC>TGC	p.S382C	UROC1_uc010hsi.1_Missense_Mutation_p.S442C	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	382					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		AAGTAGCACCTTTCCTGGACC	0.522													A	126219539	T	A	126219539	3	1	12	1	0	0	0	0	1	0	0	0	17025	1623	56	5	926	5	UROC1	3	126219539	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	39149	126219539	71802891	290	10298											
UROC1	131669	broad.mit.edu	37	chr3	126226620	126226620	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaagagcttctcatactcCgtccgggaggagtagttggg	14	9	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:126226620C>T	uc003eiz.1	-	6	599	c.567G>A	c.(565-567)ACG>ACA	p.T189T	UROC1_uc010hsi.1_Silent_p.T189T	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	189					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		TCTCATACTCCGTCCGGGAGG	0.532													T	126226620	C	T	126226620	2	4	12	1	0	0	0	0	0	0	0	1	17025	639	23	1		1	UROC1	3	126226620	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	7081	126226620	71795810	291	10299											
RUVBL1	8607	broad.mit.edu	37	chr3	127806584	127806584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagtatacagcatggtccGgattatcatcactcggtcca	10	10	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:127806584G>A	uc003ekh.2	-	9	1188	c.1084C>T	c.(1084-1086)CGG>TGG	p.R362W	RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Missense_Mutation_p.R302W|RUVBL1_uc010hss.2_Missense_Mutation_p.R362W	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	362					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		AGCATGGTCCGGATTATCATC	0.488													A	127806584	G	A	127806584	3	1	12	1	0	0	0	0	1	0	0	0	13752	1115	39	1	298	1	RUVBL1	3	127806584	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1579964	127806584	70215846	292	10300											
CCDC48	79825	broad.mit.edu	37	chr3	128757721	128757721	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttgctgagcacgctggaCgctttcagggaccccaccca	10	14	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:128757721C>T	uc011bkt.1	+	7	1638	c.1638C>T	c.(1636-1638)GAC>GAT	p.D546D		NM_024768	NP_079044	Q9HA90	CCD48_HUMAN	coiled-coil domain containing 48	546											0						GCACGCTGGACGCTTTCAGGG	0.537													T	128757721	C	T	128757721	2	4	12	1	0	0	0	0	0	0	0	1	2819	535	19	1		1	CCDC48	3	128757721	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	951137	128757721	69264709	293	10301											
IFT122	55764	broad.mit.edu	37	chr3	129233274	129233274	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcagagcaaggccctcggTgcctacaggctggcccggca	14	14	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:129233274T>C	uc003emm.2	+	25	3236	c.3030T>C	c.(3028-3030)GGT>GGC	p.G1010G	IFT122_uc003eml.2_Silent_p.G1061G|IFT122_uc003emn.2_Silent_p.G951G|IFT122_uc003emo.2_Silent_p.G900G|IFT122_uc003emp.2_Silent_p.G860G|IFT122_uc010htc.2_Silent_p.G1003G|IFT122_uc011bky.1_Silent_p.G801G|IFT122_uc003emq.2_Silent_p.G850G|IFT122_uc003emr.2_Silent_p.G763G|IFT122_uc011bla.1_Silent_p.G784G|IFT122_uc010hte.2_Silent_p.G336G|IFT122_uc003ems.2_Silent_p.G392G	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	1010					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						AGGCCCTCGGTGCCTACAGGC	0.602													C	129233274	T	C	129233274	2	2	12	1	0	0	0	0	0	0	0	1	7555	1683	59	3		3	IFT122	3	129233274	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	475553	129233274	68789156	294	10302											
PLXND1	23129	broad.mit.edu	37	chr3	129281738	129281738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtcggtgtccatggcccGcacgctcagcgagtccatgc	13	15	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:129281738G>A	uc003emx.2	-	27	4817	c.4717C>T	c.(4717-4719)CGG>TGG	p.R1573W	PLXND1_uc011blb.1_Missense_Mutation_p.R241W	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1573	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						TCCATGGCCCGCACGCTCAGC	0.597													A	129281738	G	A	129281738	3	1	12	1	0	0	0	0	1	0	0	0	12127	1086	38	1	1100	1	PLXND1	3	129281738	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	48464	129281738	68740692	295	10303											
PLXND1	23129	broad.mit.edu	37	chr3	129292568	129292568	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagggtcccaccgtccaaCgggccactcaggggctcaat	12	15	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:129292568C>T	uc003emx.2	-	13	2806	c.2706G>A	c.(2704-2706)CCG>CCA	p.P902P		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	902	IPT/TIG 1.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						CACCGTCCAACGGGCCACTCA	0.667													T	129292568	C	T	129292568	2	4	12	1	0	0	0	0	0	0	0	1	12127	523	19	1		1	PLXND1	3	129292568	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	10830	129292568	68729862	296	10304											
COL6A6	131873	broad.mit.edu	37	chr3	130292809	130292809	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttctttgtagattgtgaaaTtgacaaagtagatcttgttt	8	4	2	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:130292809T>A	uc010htl.2	+	7	3018	c.2987T>A	c.(2986-2988)ATT>AAT	p.I996N		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	996	Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GATTGTGAAATTGACAAAGTA	0.343													A	130292809	T	A	130292809	3	1	12	1	0	0	0	0	1	0	0	0	3703	1493	52	5	3013	5	COL6A6	3	130292809	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1000241	130292809	67729621	297	10305											
COL6A6	131873	broad.mit.edu	37	chr3	130307997	130307997	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcattggaggagatggcacaAtgggagatcctggaccacca	14	9	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:130307997A>G	uc010htl.2	+	11	4220	c.4189A>G	c.(4189-4191)ATG>GTG	p.M1397V	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1397	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						AGATGGCACAATGGGAGATCC	0.433													G	130307997	A	G	130307997	3	3	12	1	0	0	0	0	1	0	0	0	3703	101	4	3	4231	3	COL6A6	3	130307997	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	15188	130307997	67714433	298	10306											
COL6A6	131873	broad.mit.edu	37	chr3	130345329	130345329	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaatctttctgtttaacagGgagaacctggagatctggga	11	7	3	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:130345329G>T	uc010htl.2	+	24	4910	c.4879G>T	c.(4879-4881)GGA>TGA	p.G1627*	COL6A6_uc003eni.3_Translation_Start_Site	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1627	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						TGTTTAACAGGGAGAACCTGG	0.438													T	130345329	G	T	130345329	4	4	12	1	0	0	0	0	0	1	0	0	3703	1246	43	5	4973	5	COL6A6	3	130345329	Nonsense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	37332	130345329	67677101	299	10307											
NPHP3	27031	broad.mit.edu	37	chr3	132438596	132438597	+	Frame_Shift_Del	DEL	CT	CT	-													gtcatgttcaaatgttgctgCtctctccattgcttggtatt							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:132438595_132438596GCT>G	uc003epe.2	-	1	576_577	c.472_473AGC>C	c.(472-474)gcafs	p.A158fs	NPHP3-AS1_uc003epg.1_5'Flank|NPHP3_uc003epf.2_5'UTR|NPHP3-AS1_uc010htu.2_5'Flank	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	158					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AAATGTTGCTGCTCTCTCCATT	0.327													-	132438597	CT	-	132438596	7	5	12	1	0	1	0	1	0	0	0	0	10580	797	28	0	3624	0	NPHP3	3	132438596	Frame_Shift_Del	DEL	CT	TCGA-BR-4257-01A-01D-1126-08	2093267	132438596	65583834	300	10308											
EPHB1	2047	broad.mit.edu	37	chr3	134851736	134851736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacaatgtggagtttgtgcCcaggcagctgggcctgacgg	16	10	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:134851736C>T	uc003eqt.2	+	5	1362	c.1142C>T	c.(1141-1143)CCC>CTC	p.P381L	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	381	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						GAGTTTGTGCCCAGGCAGCTG	0.612													T	134851736	C	T	134851736	3	4	12	1	0	0	0	0	1	0	0	0	5174	623	22	4	1160	4	EPHB1	3	134851736	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2413140	134851736	63170694	301	10309											
PIK3CB	5291	broad.mit.edu	37	chr3	138417775	138417775	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatcctcaagtttattccActtgattgacagcagtaatt	5	9	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:138417775A>G	uc011bmq.1	-	11	1744	c.1744T>C	c.(1744-1746)TGG>CGG	p.W582R	PIK3CB_uc011bmn.1_Missense_Mutation_p.W94R|PIK3CB_uc011bmo.1_Missense_Mutation_p.W28R|PIK3CB_uc011bmp.1_Missense_Mutation_p.W169R	NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	582	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						AGTTTATTCCACTTGATTGAC	0.373													G	138417775	A	G	138417775	3	3	12	1	0	0	0	0	1	0	0	0	11914	159	6	3	1514	3	PIK3CB	3	138417775	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	3566039	138417775	59604655	302	10310											
RNF7	9616	broad.mit.edu	37	chr3	141457324	141457324	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagctgggacgtggagtgCgatacgtgcgccatctgcag	17	9	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:141457324C>T	uc003eud.2	+	1	274	c.141C>T	c.(139-141)TGC>TGT	p.C47C	RNF7_uc003euc.2_Silent_p.C47C|RNF7_uc003eue.2_RNA	NM_014245	NP_055060	Q9UBF6	RBX2_HUMAN	ring finger protein 7 isoform 1	47					anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state	cytoplasm|nucleus	copper ion binding|NEDD8 ligase activity|protein binding|zinc ion binding				0						ACGTGGAGTGCGATACGTGCG	0.662											OREG0015854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	141457324	C	T	141457324	2	4	12	1	0	0	0	0	0	0	0	1	13499	776	27	1		1	RNF7	3	141457324	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3039549	141457324	56565106	303	10311											
XRN1	54464	broad.mit.edu	37	chr3	142051906	142051906	+	Frame_Shift_Del	DEL	A	A	-													tggagatattcaaagatgctAaaaagttctcaattccagag							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:142051905_142051905TA>T	uc003eus.3	-	34	4033	c.3966_3966TA>A	c.(3964-3966)ttafs	p.L1322fs	XRN1_uc010huu.3_Frame_Shift_Del_p.L788fs|XRN1_uc003eut.3_Frame_Shift_Del_p.L1322fs|XRN1_uc003euu.3_Frame_Shift_Del_p.L1322fs	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	1322					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TCAAAGATGCTAAAAAGTTCT	0.363													-	142051906	A	-	142051906	7	5	12	1	0	1	0	1	0	0	0	0	17456	372	13	0	1187	0	XRN1	3	142051906	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	594582	142051906	55970524	304	10312											
CP	1356	broad.mit.edu	37	chr3	148897376	148897376	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagttgaataataagcccaTggaatacaagcagaatcctc	7	9	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:148897376T>C	uc003ewy.3	-	15	2881	c.2628A>G	c.(2626-2628)CCA>CCG	p.P876P	CP_uc011bnr.1_RNA|CP_uc003eww.3_Silent_p.P28P|CP_uc003ewx.3_Silent_p.P657P|CP_uc003ewz.2_Silent_p.P876P	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	876	Plastocyanin-like 5.|F5/8 type A 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AATAAGCCCATGGAATACAAG	0.368													C	148897376	T	C	148897376	2	2	12	1	0	0	0	0	0	0	0	1	3787	1451	51	3		3	CP	3	148897376	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	6845470	148897376	49125054	305	10313											
FAM194A	131831	broad.mit.edu	37	chr3	150387183	150387183	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttcttggactatacaagTaaaaccatttaccttgttgg	6	8	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:150387183T>C	uc003eyg.2	-	12	1456	c.1399A>G	c.(1399-1401)ACT>GCT	p.T467A	FAM194A_uc003eyh.2_Missense_Mutation_p.T321A	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	467										skin(2)|ovary(1)	3						ACTATACAAGTAAAACCATTT	0.433													C	150387183	T	C	150387183	3	2	12	1	0	0	0	0	1	0	0	0	5526	1638	57	3	604	3	FAM194A	3	150387183	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1489807	150387183	47635247	306	10314											
DHX36	170506	broad.mit.edu	37	chr3	154011567	154011567	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caatgttggtagcaattactAttttccgaacaccaggaggg	10	8	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:154011567A>T	uc003ezy.3	-	14	1721	c.1640T>A	c.(1639-1641)ATA>AAA	p.I547K	DHX36_uc010hvq.2_Missense_Mutation_p.I533K|DHX36_uc003ezz.3_Missense_Mutation_p.I547K	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	547	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGCAATTACTATTTTCCGAAC	0.284													T	154011567	A	T	154011567	3	4	12	1	0	0	0	0	1	0	0	0	4509	449	16	5	1434	5	DHX36	3	154011567	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	3624384	154011567	44010863	307	10315											
MLF1	4291	broad.mit.edu	37	chr3	158310241	158310241	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgagtccattcttgcacaCcgagaaaatatgcgacagat	9	9	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:158310241C>T	uc003fcb.2	+	2	203	c.66C>T	c.(64-66)CAC>CAT	p.H22H	MLF1_uc003fbz.2_5'UTR|MLF1_uc003fca.2_5'UTR|MLF1_uc003fbx.2_5'UTR|MLF1_uc003fcc.2_Silent_p.H38H|MLF1_uc003fby.2_5'UTR|MLF1_uc010hvx.2_5'UTR	NM_022443	NP_071888	P58340	MLF1_HUMAN	myeloid leukemia factor 1 isoform 1	22					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding				0		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TTCTTGCACACCGAGAAAATA	0.358			T	NPM1	AML								T	158310241	C	T	158310241	2	4	12	1	0	0	0	0	0	0	0	1	9614	506	18	4		4	MLF1	3	158310241	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	4298674	158310241	39712189	308	10316											
MLF1	4291	broad.mit.edu	37	chr3	158310320	158310320	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagtatctctgatggtagaGggagagctcataatcgtaga	12	6	3	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:158310320G>T	uc003fcb.2	+	2	282	c.145G>T	c.(145-147)GGG>TGG	p.G49W	MLF1_uc003fbz.2_Missense_Mutation_p.G24W|MLF1_uc003fca.2_Missense_Mutation_p.G24W|MLF1_uc003fbx.2_Missense_Mutation_p.G24W|MLF1_uc003fcc.2_Missense_Mutation_p.G65W|MLF1_uc003fby.2_Translation_Start_Site|MLF1_uc010hvx.2_Missense_Mutation_p.G24W	NM_022443	NP_071888	P58340	MLF1_HUMAN	myeloid leukemia factor 1 isoform 1	49					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding				0		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TGATGGTAGAGGGAGAGCTCA	0.403			T	NPM1	AML								T	158310320	G	T	158310320	3	4	12	1	0	0	0	0	1	0	0	0	9614	1000	35	5	151	5	MLF1	3	158310320	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	79	158310320	39712110	309	10317											
WDR49	151790	broad.mit.edu	37	chr3	167250683	167250683	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttacctaattttgactttagCaacctctggtaatcagggtg	8	8	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:167250683C>A	uc003fev.1	-	8	1287	c.981G>T	c.(979-981)TTG>TTT	p.L327F	WDR49_uc003feu.1_Missense_Mutation_p.L152F|WDR49_uc011bpd.1_Missense_Mutation_p.L391F|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	327										large_intestine(1)|ovary(1)|skin(1)	3						TTGACTTTAGCAACCTCTGGT	0.418													A	167250683	C	A	167250683	3	1	12	1	0	0	0	0	1	0	0	0	17299	709	25	5	1144	5	WDR49	3	167250683	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	8940363	167250683	30771747	310	10318											
SLC2A2	6514	broad.mit.edu	37	chr3	170727811	170727811	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagatggtcccaattttgaAaaccccatcaagagagctcc	8	11	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:170727811A>G	uc003fhe.1	-	4	741	c.432T>C	c.(430-432)TTT>TTC	p.F144F	SLC2A2_uc003fhf.1_Intron|SLC2A2_uc011bpu.1_Silent_p.F17F	NM_000340	NP_000331	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose	144	Helical; Name=3; (Potential).				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			CCAATTTTGAAAACCCCATCA	0.289													G	170727811	A	G	170727811	2	3	12	1	0	0	0	0	0	0	0	1	14544	11	1	3		3	SLC2A2	3	170727811	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	3477128	170727811	27294619	311	10319											
ECT2	1894	broad.mit.edu	37	chr3	172486914	172486914	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagtaattatgttaataTattggcaacaattattcagg	7	3	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:172486914T>C	uc003fii.2	+	12	1454	c.1316T>C	c.(1315-1317)ATA>ACA	p.I439T	ECT2_uc010hwv.1_Missense_Mutation_p.I470T|ECT2_uc003fih.2_Missense_Mutation_p.I438T|ECT2_uc003fij.1_Missense_Mutation_p.I439T|ECT2_uc003fik.1_Missense_Mutation_p.I439T|ECT2_uc003fil.1_Missense_Mutation_p.I470T	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	439	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TATGTTAATATATTGGCAACA	0.333													C	172486914	T	C	172486914	3	2	12	1	0	0	0	0	1	0	0	0	4901	1406	49	3	1358	3	ECT2	3	172486914	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1759103	172486914	25535516	312	10320											
EHHADH	1962	broad.mit.edu	37	chr3	184910379	184910379	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgatgggtttttctatAccgtgataggaatttggaaa	11	3	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:184910379A>G	uc003fpf.2	-	7	1834	c.1807T>C	c.(1807-1809)TAT>CAT	p.Y603H	EHHADH_uc011brs.1_Missense_Mutation_p.Y507H	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	603						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GTTTTTCTATACCGTGATAGG	0.433													G	184910379	A	G	184910379	3	3	12	1	0	0	0	0	1	0	0	0	4982	391	14	3	368	3	EHHADH	3	184910379	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	12423465	184910379	13112051	313	10321											
TRA2B	6434	broad.mit.edu	37	chr3	185636197	185636197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgtgatctgtatcctccaCgactatagtaaggagaaggt	10	8	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:185636197C>T	uc003fpv.2	-	8	1088	c.812G>A	c.(811-813)CGT>CAT	p.R271H	TRA2B_uc003fpt.2_RNA|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_Missense_Mutation_p.R171H|TRA2B_uc003fpw.2_Missense_Mutation_p.R251H	NM_004593	NP_004584	P62995	TRA2B_HUMAN	splicing factor, arginine/serine-rich 10	271	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)	2						GTATCCTCCACGACTATAGTA	0.353													T	185636197	C	T	185636197	3	4	12	1	0	0	0	0	1	0	0	0	16431	536	19	1	62	1	TRA2B	3	185636197	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	725818	185636197	12386233	314	10322											
TP63	8626	broad.mit.edu	37	chr3	189526151	189526151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccctataacacagaccacGcgcagaacagcgtcacggcg	10	15	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:189526151G>A	uc003fry.2	+	4	504	c.415G>A	c.(415-417)GCG>ACG	p.A139T	TP63_uc003frx.2_Missense_Mutation_p.A139T|TP63_uc003frz.2_Missense_Mutation_p.A139T|TP63_uc010hzc.1_Missense_Mutation_p.A139T|TP63_uc003fsa.2_Missense_Mutation_p.A45T|TP63_uc003fsb.2_Missense_Mutation_p.A45T|TP63_uc003fsc.2_Missense_Mutation_p.A45T|TP63_uc003fsd.2_Missense_Mutation_p.A45T|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Missense_Mutation_p.A20T	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	139					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CACAGACCACGCGCAGAACAG	0.617									Hay-Wells_syndrome	HNSCC(45;0.13)			A	189526151	G	A	189526151	3	1	12	1	0	0	0	0	1	0	0	0	16389	1087	38	1	475	1	TP63	3	189526151	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	3889954	189526151	8496279	315	10323											
CLDN16	10686	broad.mit.edu	37	chr3	190127802	190127802	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacagagacggccaaaatgTatgctgtagacacaagggtg	13	8	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:190127802T>C	uc003fsi.2	+	5	963	c.895T>C	c.(895-897)TAT>CAT	p.Y299H	CLDN16_uc010hze.2_3'UTR	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	claudin 16	299	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GGCCAAAATGTATGCTGTAGA	0.428													C	190127802	T	C	190127802	3	2	12	1	0	0	0	0	1	0	0	0	3477	1638	57	3	913	3	CLDN16	3	190127802	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	601651	190127802	7894628	316	10324											
C3orf34	84984	broad.mit.edu	37	chr3	196435397	196435397	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagataagacatgaggtAcctgaaaactttgaaaagtt	10	5	0	5			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:196435397A>G	uc011btw.1	-	2	524	c.142_splice	c.e2+1	p.D48_splice		NM_032898	NP_116287	Q96LK0	CEP19_HUMAN	hypothetical protein LOC84984							centriole|spindle pole					0	all_cancers(143;1.48e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00301)		GACATGAGGTACCTGAAAACT	0.284													G	196435397	A	G	196435397	5	3	12	1	0	0	0	0	0	0	1	0	2224	405	14	3	367	3	C3orf34	3	196435397	Splice_Site	SNP	A	TCGA-BR-4257-01A-01D-1126-08	6307595	196435397	1587033	317	10325											
DLG1	1739	broad.mit.edu	37	chr3	196867105	196867105	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgggttgtccgtacctcCtgcaatgctgaaaccaagcc	11	12	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:196867105C>A	uc003fxo.3	-	9	908	c.718G>T	c.(718-720)GGA>TGA	p.G240*	DLG1_uc011bub.1_Nonsense_Mutation_p.G124*|DLG1_uc011buc.1_Nonsense_Mutation_p.G124*|DLG1_uc011bud.1_Translation_Start_Site|DLG1_uc003fxn.3_Nonsense_Mutation_p.G240*|DLG1_uc011bue.1_Nonsense_Mutation_p.G207*|DLG1_uc010ial.2_Nonsense_Mutation_p.G240*|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Nonsense_Mutation_p.G207*|DLG1_uc010ian.2_Nonsense_Mutation_p.G107*	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	240	PDZ 1.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TCCGTACCTCCTGCAATGCTG	0.418													A	196867105	C	A	196867105	4	1	12	1	0	0	0	0	0	1	0	0	4554	690	24	5	2172	5	DLG1	3	196867105	Nonsense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	431708	196867105	1155325	318	10326											
PDE6B	5158	broad.mit.edu	37	chr4	628573	628573	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtggcggtgatcatggcAgtgaacaagctcaacggccc	14	11	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:628573A>C	uc003gap.2	+	2	629	c.576A>C	c.(574-576)GCA>GCC	p.A192A	PDE6B_uc003gao.3_Silent_p.A192A	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	192	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						TGATCATGGCAGTGAACAAGC	0.488													C	628573	A	C	628573	2	2	12	1	0	0	0	0	0	0	0	1	11646	175	7	5		5	PDE6B	4	628573	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08		628573	190525703	319	10327											
ZFYVE28	57732	broad.mit.edu	37	chr4	2339147	2339147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctcacctctccaccgtctCgcagaagagcacgatgacct	8	16	3	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:2339147C>T	uc003gex.1	-	5	917	c.598G>A	c.(598-600)GAG>AAG	p.E200K	ZFYVE28_uc011bvk.1_Missense_Mutation_p.E130K|ZFYVE28_uc011bvl.1_Missense_Mutation_p.E200K|ZFYVE28_uc003gey.3_Missense_Mutation_p.E130K|ZFYVE28_uc003gez.2_Missense_Mutation_p.E153K|ZFYVE28_uc003gew.1_Missense_Mutation_p.E86K	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	200					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			skin(2)|ovary(1)	3						TCCACCGTCTCGCAGAAGAGC	0.637													T	2339147	C	T	2339147	3	4	12	1	0	0	0	0	1	0	0	0	17667	893	31	1	2321	1	ZFYVE28	4	2339147	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1710574	2339147	188815129	320	10328											
RGS12	6002	broad.mit.edu	37	chr4	3319285	3319285	+	Frame_Shift_Del	DEL	G	G	-													gtgggacggtgtgggtgggaGgggtgcccagccctggggtg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:3319285delG	uc003ggw.2	+	2	2292	c.1388delG	c.(1387-1389)AGGfs	p.R463fs	RGS12_uc003ggu.2_Frame_Shift_Del_p.R463fs|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Frame_Shift_Del_p.R463fs|RGS12_uc003ggx.1_Frame_Shift_Del_p.R463fs	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	463						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTGGGTGGGAGGGGTGCCCAG	0.687													-	3319285	G	-	3319285	7	5	12	1	0	1	0	1	0	0	0	0	13295	1000	35	0	1390	0	RGS12	4	3319285	Frame_Shift_Del	DEL	G	TCGA-BR-4257-01A-01D-1126-08	980138	3319285	187834991	321	10329											
RGS12	6002	broad.mit.edu	37	chr4	3430399	3430399	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctattgcaaagattgggAaaaaaaaatatcagaaaatt	6	3	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:3430399A>G	uc003ggw.2	+	16	4430	c.3526A>G	c.(3526-3528)AAA>GAA	p.K1176E	RGS12_uc003ggv.2_Missense_Mutation_p.K1176E|RGS12_uc003ggy.1_Intron|RGS12_uc003ggz.2_Missense_Mutation_p.K528E|RGS12_uc011bvs.1_Intron|RGS12_uc003gha.2_Missense_Mutation_p.K518E|RGS12_uc010icv.2_Missense_Mutation_p.K375E	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1176						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAGATTGGGAAAAAAAAATA	0.328													G	3430399	A	G	3430399	3	3	12	1	0	0	0	0	1	0	0	0	13295	247	9	3	3642	3	RGS12	4	3430399	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	111114	3430399	187723877	322	10330											
EVC	2121	broad.mit.edu	37	chr4	5720985	5720985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggttttagaaagacgacaCtcaaaatctgctcaagaatt	8	8	3	3	rs147280107		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:5720985C>T	uc003gil.1	+	2	369	c.185C>T	c.(184-186)ACT>ATT	p.T62I	EVC_uc003gim.1_RNA	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	62					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				AAAGACGACACTCAAAATCTG	0.517													T	5720985	C	T	5720985	3	4	12	1	0	0	0	0	1	0	0	0	5285	565	20	4	191	4	EVC	4	5720985	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2290586	5720985	185433291	323	10331											
GRPEL1	80273	broad.mit.edu	37	chr4	7064112	7064112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgttatgttgaaagtacCgtataattttgcctcctcca	6	10	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:7064112C>T	uc003gjy.1	-	3	348	c.307G>A	c.(307-309)GGC>AGC	p.G103S	GRPEL1_uc003gjz.1_Missense_Mutation_p.G103S	NM_025196	NP_079472	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial precursor	103					protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding				0						TTGAAAGTACCGTATAATTTT	0.458													T	7064112	C	T	7064112	3	4	12	1	0	0	0	0	1	0	0	0	6806	666	23	1	354	1	GRPEL1	4	7064112	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1343127	7064112	184090164	324	10332											
RBPJ	3516	broad.mit.edu	37	chr4	26431567	26431567	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagagatgataaatgatggCgcttcctggacaatcattag	10	6	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:26431567C>T	uc003grx.1	+	10	1211	c.975C>T	c.(973-975)GGC>GGT	p.G325G	RBPJ_uc003gry.1_Silent_p.G310G|RBPJ_uc003grz.1_Silent_p.G325G|RBPJ_uc011bxt.1_Silent_p.G325G|RBPJ_uc003gsa.1_Silent_p.G311G|RBPJ_uc003gsb.1_Silent_p.G312G|RBPJ_uc003gsc.1_Silent_p.G311G	NM_005349	NP_005340	Q06330	SUH_HUMAN	recombining binding protein suppressor of	325					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)	3		Breast(46;0.0503)				TAAATGATGGCGCTTCCTGGA	0.403													T	26431567	C	T	26431567	2	4	12	1	0	0	0	0	0	0	0	1	13161	755	27	1		1	RBPJ	4	26431567	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	19367455	26431567	164722709	325	10333											
ARAP2	116984	broad.mit.edu	37	chr4	36231150	36231150	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagttacaaaaagtggcaCgatgagacacacacacaaga	9	9	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:36231150C>T	uc003gsq.1	-	2	297	c.-41G>A	c.(-43--39)TCGTG>TCATG		ARAP2_uc003gsr.1_Translation_Start_Site	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH						regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						AAAAGTGGCACGATGAGACAC	0.348													T	36231150	C	T	36231150	1	4	12	1	0	0	0	0	0	0	0	0	839	551	19	1		1	ARAP2	4	36231150	Translation_Start_Site	SNP	C	TCGA-BR-4257-01A-01D-1126-08	9799583	36231150	154923126	326	10334											
N4BP2	55728	broad.mit.edu	37	chr4	40122061	40122061	+	Frame_Shift_Del	DEL	A	A	-													aaaaagcaaatcgactttggAaaagttcccaagacatgagc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:40122060_40122060GA>G	uc003guy.4	+	8	2667	c.2329_2329GA>G	c.(2329-2331)gaafs	p.E777fs	N4BP2_uc010ifq.3_Frame_Shift_Del_p.E697fs|N4BP2_uc010ifr.3_Frame_Shift_Del_p.E697fs	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	777						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATCGACTTTGGAAAAGTTCCC	0.373													-	40122061	A	-	40122061	7	5	12	1	0	1	0	1	0	0	0	0	10110	246	9	0	2356	0	N4BP2	4	40122061	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	3890911	40122061	151032215	327	10335											
PHOX2B	8929	broad.mit.edu	37	chr4	41749473	41749473	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccagctctttgagctgggCactggtgaaagtggtgcgga	15	8	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:41749473C>A	uc003gwf.3	-	2	682	c.322G>T	c.(322-324)GCC>TCC	p.A108S		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	108	Homeobox.				positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1)	12						TTGAGCTGGGCACTGGTGAAA	0.587			Mis|F		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				A	41749473	C	A	41749473	3	1	12	1	0	0	0	0	1	0	0	0	11859	710	25	5	630	5	PHOX2B	4	41749473	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1627412	41749473	149404803	328	10336											
ATP8A1	10396	broad.mit.edu	37	chr4	42445639	42445639	+	Frame_Shift_Del	DEL	A	A	-													cacagagatgagtagattccAaaaaacaccacccagagtgc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:42445638_42445638CA>C	uc003gwr.2	-	32	3299	c.3067_3067TG>G	c.(3067-3069)ggafs	p.G1023fs	ATP8A1_uc003gwq.2_Frame_Shift_Del_p.G249fs|ATP8A1_uc003gws.2_Frame_Shift_Del_p.G1008fs	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	1023					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GAGTAGATTCCAAAAAACACC	0.448													-	42445639	A	-	42445639	7	5	12	1	0	1	0	1	0	0	0	0	1192	127	5	0	448	0	ATP8A1	4	42445639	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	696166	42445639	148708637	329	10337											
ATP8A1	10396	broad.mit.edu	37	chr4	42580304	42580304	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaagtatgcctgggtaaaTttcacaacttctaatgtaac	7	7	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:42580304T>C	uc003gwr.2	-	12	1333	c.1101A>G	c.(1099-1101)AAA>AAG	p.K367K	ATP8A1_uc003gws.2_Silent_p.K367K|ATP8A1_uc011byz.1_Silent_p.K367K	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	367	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)	CCTGGGTAAATTTCACAACTT	0.328													C	42580304	T	C	42580304	2	2	12	1	0	0	0	0	0	0	0	1	1192	1490	52	3		3	ATP8A1	4	42580304	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	134665	42580304	148573972	330	10338											
FRYL	285527	broad.mit.edu	37	chr4	48545976	48545976	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaggaaagtgctgtttgcaGagcaacttcactaagatgat	10	7	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:48545976G>T	uc003gyh.1	-	44	6045	c.5440C>A	c.(5440-5442)CTG>ATG	p.L1814M	FRYL_uc003gyg.1_Missense_Mutation_p.L510M|FRYL_uc003gyi.1_Missense_Mutation_p.L702M|FRYL_uc003gyj.1_Missense_Mutation_p.L109M	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1814					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						GCTGTTTGCAGAGCAACTTCA	0.418													T	48545976	G	T	48545976	3	4	12	1	0	0	0	0	1	0	0	0	6064	933	33	5	3685	5	FRYL	4	48545976	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	5965672	48545976	142608300	331	10339											
SPATA18	132671	broad.mit.edu	37	chr4	52917801	52917801	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccatatcaccccacggtcCtgcggaggccaccgcctggt	11	18	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:52917801C>A	uc003gzl.2	+	1	209	c.-69C>A	c.(-71--67)TCCTG>TCATG		SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Translation_Start_Site|SPATA18_uc003gzk.1_Translation_Start_Site	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog						mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CCCCACGGTCCTGCGGAGGCC	0.647													A	52917801	C	A	52917801	1	1	12	1	0	0	0	0	0	0	0	0	15002	696	24	5		5	SPATA18	4	52917801	Translation_Start_Site	SNP	C	TCGA-BR-4257-01A-01D-1126-08	4371825	52917801	138236475	332	10340											
USP46	64854	broad.mit.edu	37	chr4	53492381	53492381	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaataatttaaaaattcaTgagcatcctgctgcatgtag	7	7	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:53492381T>C	uc003gzn.2	-	4	550	c.365A>G	c.(364-366)CAT>CGT	p.H122R	USP46_uc003gzm.3_Missense_Mutation_p.H115R|USP46_uc011bzr.1_Missense_Mutation_p.H99R|USP46_uc011bzs.1_Missense_Mutation_p.H6R	NM_022832	NP_073743	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46 isoform 1	122					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)	1			LUSC - Lung squamous cell carcinoma(32;0.0295)			TAAAAATTCATGAGCATCCTG	0.348													C	53492381	T	C	53492381	3	2	12	1	0	0	0	0	1	0	0	0	17074	1464	51	3	759	3	USP46	4	53492381	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	574580	53492381	137661895	333	10341											
NMU	10874	broad.mit.edu	37	chr4	56471505	56471505	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgagctgcagcaacggatgCacaactgacgactgagagga	13	10	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:56471505C>T	uc003hbc.2	-	7	478	c.372G>A	c.(370-372)GTG>GTA	p.V124V	NMU_uc003hbd.1_Intron|NMU_uc010igv.1_RNA|NMU_uc010igw.1_Silent_p.V39V|NMU_uc010igx.1_Intron	NM_006681	NP_006672	P48645	NMU_HUMAN	neuromedin U precursor	124					neuropeptide signaling pathway	extracellular region					0	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		GCAACGGATGCACAACTGACG	0.463													T	56471505	C	T	56471505	2	4	12	1	0	0	0	0	0	0	0	1	10505	697	25	2		2	NMU	4	56471505	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2979124	56471505	134682771	334	10342											
UBA6	55236	broad.mit.edu	37	chr4	68492086	68492086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttcccttacttttggtgGcttcattagataaaatagcc	6	8	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:68492086G>A	uc003hdg.3	-	28	2562	c.2510C>T	c.(2509-2511)GCC>GTC	p.A837V		NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	837					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0						ACTTTTGGTGGCTTCATTAGA	0.333													A	68492086	G	A	68492086	3	1	12	1	0	0	0	0	1	0	0	0	16829	1203	42	2	672	2	UBA6	4	68492086	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	12020581	68492086	122662190	335	10343											
SULT1E1	6783	broad.mit.edu	37	chr4	70723269	70723269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctggtcttgcctggaacgCttccacattatcccaatatt	6	12	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:70723269C>T	uc003heo.2	-	2	207	c.94G>A	c.(94-96)GCG>ACG	p.A32T	SULT1E1_uc010ihv.1_Missense_Mutation_p.A32T	NM_005420	NP_005411	P49888	ST1E1_HUMAN	estrogen sulfotransferase	32					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			ovary(1)	1						GCCTGGAACGCTTCCACATTA	0.348													T	70723269	C	T	70723269	3	4	12	1	0	0	0	0	1	0	0	0	15377	797	28	2	818	2	SULT1E1	4	70723269	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2231183	70723269	120431007	336	10344											
MUC7	4589	broad.mit.edu	37	chr4	71346558	71346558	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcatgaactacgtcacagaAggcatcatcaccaatcaccc	5	14	5	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:71346558A>C	uc011cat.1	+	4	385	c.97A>C	c.(97-99)AGG>CGG	p.R33R	MUC7_uc011cau.1_Silent_p.R33R|MUC7_uc003hfj.2_Silent_p.R33R|uc011cav.1_RNA	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	33						extracellular region	protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4			Lung(101;0.211)			ACGTCACAGAAGGCATCATCA	0.303													C	71346558	A	C	71346558	2	2	12	1	0	0	0	0	0	0	0	1	9981	63	3	5		5	MUC7	4	71346558	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	623289	71346558	119807718	337	10345											
PF4V1	5197	broad.mit.edu	37	chr4	74719777	74719777	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgctgaagaatgggaggaaaAtttgcttggatctgcaagcc	13	7	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:74719777A>T	uc003hhg.1	+	3	320	c.253A>T	c.(253-255)ATT>TTT	p.I85F		NM_002620	NP_002611	P10720	PF4V_HUMAN	platelet factor 4 variant 1	85					immune response	extracellular region	chemokine activity|heparin binding				0	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGGGAGGAAAATTTGCTTGGA	0.463													T	74719777	A	T	74719777	3	4	12	1	0	0	0	0	1	0	0	0	11753	101	4	5	263	5	PF4V1	4	74719777	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	3373219	74719777	116434499	338	10346											
G3BP2	9908	broad.mit.edu	37	chr4	76570792	76570792	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattgcgcctaatatccctgCgatcatcaccaccacctctg	5	17	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:76570792C>A	uc003hir.2	-	12	1436	c.1271G>T	c.(1270-1272)CGC>CTC	p.R424L	G3BP2_uc003his.2_Missense_Mutation_p.R424L|G3BP2_uc003hit.2_Missense_Mutation_p.R391L	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Ras-GTPase activating protein SH3 domain-binding	424	Gly-rich.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(2)|central_nervous_system(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AATATCCCTGCGATCATCACC	0.498													A	76570792	C	A	76570792	3	1	12	1	0	0	0	0	1	0	0	0	6142	768	27	5	181	5	G3BP2	4	76570792	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1851015	76570792	114583484	339	10347											
PPEF2	5470	broad.mit.edu	37	chr4	76797721	76797721	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcggctttcggggagaaAccatgggatgggtccctgtg	17	8	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:76797721A>G	uc003hix.2	-	11	1396	c.1039T>C	c.(1039-1041)TTT>CTT	p.F347L	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.F347L	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	347	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCGGGGAGAAACCATGGGATG	0.572													G	76797721	A	G	76797721	3	3	12	1	0	0	0	0	1	0	0	0	12308	43	2	3	1250	3	PPEF2	4	76797721	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	226929	76797721	114356555	340	10348											
PDLIM5	10611	broad.mit.edu	37	chr4	95496980	95496980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccttcacccgtggctgccGtcactcctcccctgttcgct	7	21	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:95496980G>A	uc003hti.2	+	5	656	c.505G>A	c.(505-507)GTC>ATC	p.V169I	PDLIM5_uc003htf.2_Intron|PDLIM5_uc003htg.2_Intron|PDLIM5_uc011cdx.1_Intron|PDLIM5_uc003hth.2_Intron|PDLIM5_uc003htj.2_Intron|PDLIM5_uc003htk.2_Intron|PDLIM5_uc011cdy.1_Missense_Mutation_p.V47I	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	169					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CGTGGCTGCCGTCACTCCTCC	0.547													A	95496980	G	A	95496980	3	1	12	1	0	0	0	0	1	0	0	0	11683	1145	40	1	519	1	PDLIM5	4	95496980	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	18699259	95496980	95657296	341	10349											
GSTCD	79807	broad.mit.edu	37	chr4	106746920	106746920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacatttggttcattcaagCaaatatggaatattttactg	6	6	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:106746920C>T	uc003hxz.3	+	8	1565	c.1493C>T	c.(1492-1494)GCA>GTA	p.A498V	GSTCD_uc003hxy.3_Missense_Mutation_p.A411V|GSTCD_uc011cfb.1_Missense_Mutation_p.A121V	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain	498						cytoplasm	rRNA methyltransferase activity			breast(1)|central_nervous_system(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TTCATTCAAGCAAATATGGAA	0.274													T	106746920	C	T	106746920	3	4	12	1	0	0	0	0	1	0	0	0	6835	710	25	2	1519	2	GSTCD	4	106746920	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	11249940	106746920	84407356	342	10350											
TBCK	93627	broad.mit.edu	37	chr4	107170076	107170076	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagacccagattaatgacaaAcctttataatgtccaaacaa	4	9	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:107170076A>G	uc010ilv.2	-	8	1085	c.720_splice	c.e8+1	p.K240_splice	TBCK_uc003hyb.2_5'Flank|TBCK_uc003hye.2_Splice_Site_p.K201_splice|TBCK_uc003hyc.2_Splice_Site_p.K177_splice|TBCK_uc003hyd.2_Splice_Site_p.K68_splice|TBCK_uc003hyf.2_Splice_Site_p.K240_splice	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like							intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						TTAATGACAAACCTTTATAAT	0.174													G	107170076	A	G	107170076	5	3	12	1	0	0	0	0	0	0	1	0	15633	57	2	3	2035	3	TBCK	4	107170076	Splice_Site	SNP	A	TCGA-BR-4257-01A-01D-1126-08	423156	107170076	83984200	343	10351											
USP53	54532	broad.mit.edu	37	chr4	120177654	120177654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttttacagaatttgtgcGgtacatttctacaacagcct	6	10	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:120177654G>A	uc003ics.3	+	8	1611	c.545G>A	c.(544-546)CGG>CAG	p.R182Q	USP53_uc003icr.3_Missense_Mutation_p.R182Q|USP53_uc003icu.3_5'UTR	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	182					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4						GAATTTGTGCGGTACATTTCT	0.308													A	120177654	G	A	120177654	3	1	12	1	0	0	0	0	1	0	0	0	17081	1116	39	1	563	1	USP53	4	120177654	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	13007578	120177654	70976622	344	10352											
PDE5A	8654	broad.mit.edu	37	chr4	120484020	120484020	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccactatgaaaatggtgcAtttctgcacttgcatgaaag	8	8	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:120484020A>G	uc003idh.2	-	6	1254	c.1099T>C	c.(1099-1101)TGC>CGC	p.C367R	PDE5A_uc003idf.2_Missense_Mutation_p.C325R|PDE5A_uc003idg.2_Missense_Mutation_p.C315R	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	367	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AAAATGGTGCATTTCTGCACT	0.318													G	120484020	A	G	120484020	3	3	12	1	0	0	0	0	1	0	0	0	11644	217	8	3	1592	3	PDE5A	4	120484020	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	306366	120484020	70670256	345	10353											
QRFPR	84109	broad.mit.edu	37	chr4	122250740	122250741	+	Frame_Shift_Ins	INS	-	-	T													acaaactgcagacaaaacatINStttttttgaagttttcattc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:122250739_122250740A>AT	uc010inj.1	-	5	1404_1405	c.1025_1026T>AT	c.(1024-1026)aatfs	p.N342fs	QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_3'UTR	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	Homo sapiens pyroglutamylated RFamide peptide receptor (QRFPR), mRNA.	342						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CAGACAAAACATTTTTTTTGAA	0.332													T	122250741	-	T	122250740	7	5	12	1	0	1	1	0	0	0	0	0	12878	1493	52	0	274	0	QRFPR	4	122250740	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	1766720	122250740	68903536	346	10354											
KIAA1109	84162	broad.mit.edu	37	chr4	123227177	123227177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatagaccaattgtttatgCacagcctgtggcctttgata	9	8	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:123227177C>T	uc003ieh.2	+	55	9863	c.9818C>T	c.(9817-9819)GCA>GTA	p.A3273V	KIAA1109_uc003iel.1_Missense_Mutation_p.A1208V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3273					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ATTGTTTATGCACAGCCTGTG	0.378													T	123227177	C	T	123227177	3	4	12	1	0	0	0	0	1	0	0	0	8208	710	25	2	10036	2	KIAA1109	4	123227177	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	976437	123227177	67927099	347	10355											
FAT4	79633	broad.mit.edu	37	chr4	126373243	126373243	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagcaatgatggagttcacaGcacagtcacgagcaacatcc	9	11	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:126373243G>T	uc003ifj.3	+	9	11072	c.11072G>T	c.(11071-11073)AGC>ATC	p.S3691I	FAT4_uc011cgp.1_Missense_Mutation_p.S1989I|FAT4_uc003ifi.1_Missense_Mutation_p.S1169I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3691	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GGAGTTCACAGCACAGTCACG	0.478													T	126373243	G	T	126373243	3	4	12	1	0	0	0	0	1	0	0	0	5692	971	34	5	11106	5	FAT4	4	126373243	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	3146066	126373243	64781033	348	10356											
MFSD8	256471	broad.mit.edu	37	chr4	128861148	128861148	+	Frame_Shift_Del	DEL	A	A	-													aggaatgtaaaacaagtctgAaaaacttattaagataaaat							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:128861148delA	uc003ifp.2	-	7	721	c.558delT	c.(556-558)TTTfs	p.F186fs	MFSD8_uc011cgu.1_Frame_Shift_Del_p.F141fs|MFSD8_uc011cgv.1_Frame_Shift_Del_p.F148fs|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_Intron	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing	186	Helical; (Potential).				cell death|transmembrane transport	integral to membrane|lysosomal membrane				ovary(1)|liver(1)	2						AACAAGTCTGAAAAACTTATT	0.308													-	128861148	A	-	128861148	7	5	12	1	0	1	0	1	0	0	0	0	9538	243	9	0	1026	0	MFSD8	4	128861148	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	2487905	128861148	62293128	349	10357											
PCDH10	57575	broad.mit.edu	37	chr4	134071765	134071765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggcaccaactccttgcGcgactacgagatcaccccca	9	17	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:134071765G>A	uc003iha.2	+	1	1296	c.470G>A	c.(469-471)CGC>CAC	p.R157H	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R157H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	157	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		AACTCCTTGCGCGACTACGAG	0.622													A	134071765	G	A	134071765	3	1	12	1	0	0	0	0	1	0	0	0	11507	1087	38	1	472	1	PCDH10	4	134071765	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	5210617	134071765	57082511	350	10358											
MAML3	55534	broad.mit.edu	37	chr4	140811854	140811854	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatctcagggagcctaccatTcttacttagatcttctagaa	6	10	4	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:140811854T>C	uc003ihz.1	-	2	1488	c.736A>G	c.(736-738)AAT>GAT	p.N246D	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	246					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					AGCCTACCATTCTTACTTAGA	0.478													C	140811854	T	C	140811854	3	2	12	1	0	0	0	0	1	0	0	0	9207	1783	62	3	2688	3	MAML3	4	140811854	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	6740089	140811854	50342422	351	10359											
RPS3A	6189	broad.mit.edu	37	chr4	152024153	152024153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcagcaccaacaggtccGccaaatccggaagaagatga	10	12	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:152024153G>A	uc003ilz.2	+	4	536	c.485G>A	c.(484-486)CGC>CAC	p.R162H	RPS3A_uc011cie.1_Missense_Mutation_p.R162H|SNORD73A_uc003ima.1_5'Flank	NM_001006	NP_000997	P61247	RS3A_HUMAN	ribosomal protein S3a	162					cell differentiation|endocrine pancreas development|induction of apoptosis|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			ovary(1)	1	all_hematologic(180;0.093)					CAACAGGTCCGCCAAATCCGG	0.428													A	152024153	G	A	152024153	3	1	12	1	0	0	0	0	1	0	0	0	13644	1087	38	1	499	1	RPS3A	4	152024153	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	11212299	152024153	39130123	352	10360											
PRSS48	345062	broad.mit.edu	37	chr4	152212409	152212409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccaaaaatggattaatgCcactatttcaagagccaaca	5	10	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:152212409C>T	uc011cif.1	+	5	791	c.791C>T	c.(790-792)GCC>GTC	p.A264V	PRSS48_uc011cig.1_Missense_Mutation_p.A121V	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	epidermis-specific serine protease-like protein	264	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)	1						TGGATTAATGCCACTATTTCA	0.448													T	152212409	C	T	152212409	3	4	12	1	0	0	0	0	1	0	0	0	12630	739	26	2	809	2	PRSS48	4	152212409	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	188256	152212409	38941867	353	10361											
FHDC1	85462	broad.mit.edu	37	chr4	153864507	153864507	+	Frame_Shift_Del	DEL	T	T	-													agaaaaagcggatgagaagcTttttttggaaaactattccg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:153864506_153864506CT>C	uc003inf.2	+	0	372	c.297_297CT>C	c.(295-297)agcfs	p.S99fs		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	99	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGATGAGAAGCTTTTTTTGGA	0.512													-	153864507	T	-	153864507	7	5	12	1	0	1	0	1	0	0	0	0	5876	1609	56	0	300	0	FHDC1	4	153864507	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	1652098	153864507	37289769	354	10362											
FAM198B	51313	broad.mit.edu	37	chr4	159092437	159092437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttctccgggtccttggacGccggctgctccagagcttac	12	14	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:159092437G>A	uc003ipp.3	-	2	543	c.91C>T	c.(91-93)CGT>TGT	p.R31C	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.R31C|FAM198B_uc003ipr.3_Missense_Mutation_p.R31C|FAM198B_uc003ips.2_Missense_Mutation_p.R31C|uc003ipt.1_RNA	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	31	Cytoplasmic (Potential).					Golgi membrane|integral to membrane					0						GTCCTTGGACGCCGGCTGCTC	0.622													A	159092437	G	A	159092437	3	1	12	1	0	0	0	0	1	0	0	0	5529	1087	38	1	1589	1	FAM198B	4	159092437	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	5227930	159092437	32061839	355	10363											
RAPGEF2	9693	broad.mit.edu	37	chr4	160274685	160274685	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggcttatatgctacagctAcagtaatttcttctccaagc	7	10	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:160274685A>G	uc003iqg.3	+	22	3965	c.3655A>G	c.(3655-3657)ACA>GCA	p.T1219A		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	1219					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TGCTACAGCTACAGTAATTTC	0.463													G	160274685	A	G	160274685	3	3	12	1	0	0	0	0	1	0	0	0	13044	391	14	3	3741	3	RAPGEF2	4	160274685	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1182248	160274685	30879591	356	10364											
ANP32C	23520	broad.mit.edu	37	chr4	165118603	165118603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccacttaaatatagatgCgtgaggtttggacacttttc	9	7	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:165118603C>T	uc011cjk.1	-	1	261	c.261G>A	c.(259-261)ACG>ACA	p.T87T	MARCH1_uc003iqs.1_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	acidic nuclear phosphoprotein 32C	87	LRR 3.										0	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		AATATAGATGCGTGAGGTTTG	0.413													T	165118603	C	T	165118603	2	4	12	1	0	0	0	0	0	0	0	1	707	755	27	1		1	ANP32C	4	165118603	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	4843918	165118603	26035673	357	10365											
PALLD	23022	broad.mit.edu	37	chr4	169433418	169433418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttggcagtgccacacaacCgcaagtctcacccacagccc	7	18	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:169433418C>T	uc011cjx.1	+	2	974	c.763C>T	c.(763-765)CGC>TGC	p.R255C	PALLD_uc003iru.2_Missense_Mutation_p.R255C	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN	palladin isoform 2	255					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			ovary(1)	1		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GCCACACAACCGCAAGTCTCA	0.587									Pancreatic_Cancer_Familial_Clustering_of				T	169433418	C	T	169433418	3	4	12	1	0	0	0	0	1	0	0	0	11407	652	23	1	765	1	PALLD	4	169433418	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	4314815	169433418	21720858	358	10366											
AADAT	51166	broad.mit.edu	37	chr4	171009703	171009703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcgattttggtcctctgCtcaatatgtcagctacaata	6	10	4	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:171009703C>T	uc003isr.2	-	2	422	c.80G>A	c.(79-81)AGC>AAC	p.S27N	AADAT_uc003iss.2_Missense_Mutation_p.S27N|AADAT_uc003ist.2_Missense_Mutation_p.S31N	NM_016228	NP_057312	Q8N5Z0	AADAT_HUMAN	kynurenine aminotransferase II	27					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity				0		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGGTCCTCTGCTCAATATGTC	0.368													T	171009703	C	T	171009703	3	4	12	1	0	0	0	0	1	0	0	0	14	797	28	2	1245	2	AADAT	4	171009703	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1576285	171009703	20144573	359	10367											
GALNTL6	442117	broad.mit.edu	37	chr4	173942662	173942662	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagagaagatattcgaccCggtgagccactgcatacccg	12	11	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:173942662C>T	uc003isv.2	+	12	2260	c.1524C>T	c.(1522-1524)CCC>CCT	p.P508P		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	508	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.?(1)		breast(2)|ovary(1)|skin(1)	4						ATATTCGACCCGGTGAGCCAC	0.488													T	173942662	C	T	173942662	2	4	12	1	0	0	0	0	0	0	0	1	6225	639	23	1		1	GALNTL6	4	173942662	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2932959	173942662	17211614	360	10368											
STOX2	56977	broad.mit.edu	37	chr4	184930482	184930482	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtaccatttggacgagaggaTacctgaccggtctcagtgca	12	10	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:184930482T>A	uc003ivz.1	+	3	1926	c.491T>A	c.(490-492)ATA>AAA	p.I164K	STOX2_uc003iwa.1_5'UTR	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	storkhead box 2	164					embryo development|maternal placenta development						0		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GACGAGAGGATACCTGACCGG	0.532													A	184930482	T	A	184930482	3	1	12	1	0	0	0	0	1	0	0	0	15319	1406	49	5	501	5	STOX2	4	184930482	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	10987820	184930482	6223794	361	10369											
IRF2	3660	broad.mit.edu	37	chr4	185329341	185329341	+	Frame_Shift_Del	DEL	T	T	-													tcaccgtactatccacttcaTtttttatagttgaagtcagg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:185329340_185329340AT>A	uc003iwf.4	-	5	701	c.501_501AT>T	c.(499-501)aatfs	p.N167fs		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	167					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TATCCACTTCATTTTTTATAG	0.413													-	185329341	T	-	185329341	7	5	12	1	0	1	0	1	0	0	0	0	7828	1493	52	0	565	0	IRF2	4	185329341	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	398859	185329341	5824935	362	10370											
IRF2	3660	broad.mit.edu	37	chr4	185339859	185339859	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatctactcctggttgatgcTttcctaacaaaagagacaaa	6	9	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:185339859T>G	uc003iwf.3	-	4	391	c.191A>C	c.(190-192)AAG>ACG	p.K64T		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	64	IRF tryptophan pentad repeat.				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TGGTTGATGCTTTCCTAACAA	0.383													G	185339859	T	G	185339859	3	3	12	1	0	0	0	0	1	0	0	0	7828	1609	56	5	882	5	IRF2	4	185339859	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	10518	185339859	5814417	363	10371											
FAT1	2195	broad.mit.edu	37	chr4	187540301	187540301	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattgcctccaattacagttAcatgaacctgggtggaactt	8	9	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:187540301A>G	uc003izf.2	-	10	7627	c.7439T>C	c.(7438-7440)GTA>GCA	p.V2480A		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2480	Extracellular (Potential).|Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						AATTACAGTTACATGAACCTG	0.473										HNSCC(5;0.00058)			G	187540301	A	G	187540301	3	3	12	1	0	0	0	0	1	0	0	0	5689	391	14	3	6399	3	FAT1	4	187540301	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2200442	187540301	3613975	364	10372											
AHRR	57491	broad.mit.edu	37	chr5	434067	434067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcccctgccctggacagcGggaaagcacagtgaggatgg	15	11	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:434067G>A	uc003jav.2	+	12	1322	c.1278G>A	c.(1276-1278)GCG>GCA	p.A426A	AHRR_uc003jaw.2_Silent_p.A404A|AHRR_uc010isy.2_Silent_p.A254A|AHRR_uc010isz.2_Silent_p.A404A|AHRR_uc003jax.2_Silent_p.A167A|AHRR_uc003jay.2_Silent_p.A264A|AHRR_uc003jaz.2_Silent_p.A25A	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCTGGACAGCGGGAAAGCACA	0.692													A	434067	G	A	434067	2	1	12	1	0	0	0	0	0	0	0	1	417	1103	39	1		1	AHRR	5	434067	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08		434067	180481193	365	10373											
CEP72	55722	broad.mit.edu	37	chr5	637758	637758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgttggaagattccagaCgttttcggaccaggagggtt	14	8	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:637758C>T	uc003jbf.2	+	7	1103	c.1031C>T	c.(1030-1032)ACG>ATG	p.T344M	CEP72_uc011clz.1_RNA	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	centrosomal protein 72 kDa	344					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				ovary(1)	1			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AGATTCCAGACGTTTTCGGAC	0.567													T	637758	C	T	637758	3	4	12	1	0	0	0	0	1	0	0	0	3260	536	19	1	1057	1	CEP72	5	637758	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	203691	637758	180277502	366	10374											
SLC12A7	10723	broad.mit.edu	37	chr5	1081765	1081765	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgagcacgtagggcagTgcgctggcacggctctcctc	15	13	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:1081765T>C	uc003jbu.2	-	9	1290	c.1224A>G	c.(1222-1224)GCA>GCG	p.A408A		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	408					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CGTAGGGCAGTGCGCTGGCAC	0.637													C	1081765	T	C	1081765	2	2	12	1	0	0	0	0	0	0	0	1	14388	1683	59	3		3	SLC12A7	5	1081765	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	444007	1081765	179833495	367	10375											
CLPTM1L	81037	broad.mit.edu	37	chr5	1334411	1334411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggatgactcacatggaacGctgcgacaaagaaggtcagc	13	9	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:1334411G>A	uc003jch.2	-	7	930	c.884C>T	c.(883-885)GCG>GTG	p.A295V	CLPTM1L_uc003jcg.2_Missense_Mutation_p.A162V	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	CLPTM1-like	295	Helical; (Potential).				apoptosis	integral to membrane				breast(1)|central_nervous_system(1)	2	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CACATGGAACGCTGCGACAAA	0.567													A	1334411	G	A	1334411	3	1	12	1	0	0	0	0	1	0	0	0	3555	1087	38	1	776	1	CLPTM1L	5	1334411	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	252646	1334411	179580849	368	10376											
ADAMTS16	170690	broad.mit.edu	37	chr5	5209338	5209338	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcggagagaaagccaagctCtgcatgctggactttaaaaa	10	8	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:5209338C>T	uc003jdl.2	+	10	1722	c.1584C>T	c.(1582-1584)CTC>CTT	p.L528L	ADAMTS16_uc003jdk.1_Silent_p.L528L|ADAMTS16_uc003jdj.1_Silent_p.L528L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	528	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						AAGCCAAGCTCTGCATGCTGG	0.388													T	5209338	C	T	5209338	2	4	12	1	0	0	0	0	0	0	0	1	261	900	32	4		4	ADAMTS16	5	5209338	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3874927	5209338	175705922	369	10377											
MTRR	4552	broad.mit.edu	37	chr5	7875484	7875484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacatgcagatgactgtGtagggtaagggcagtgttct	15	6	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:7875484G>A	uc003jed.2	+	4	508	c.478G>A	c.(478-480)GTA>ATA	p.V160I	MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Missense_Mutation_p.V133I|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	methionine synthase reductase isoform 2	160	Flavodoxin-like.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AGATGACTGTGTAGGGTAAGG	0.408													A	7875484	G	A	7875484	3	1	12	1	0	0	0	0	1	0	0	0	9961	1377	48	4	492	4	MTRR	5	7875484	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2666146	7875484	173039776	370	10378											
SEMA5A	9037	broad.mit.edu	37	chr5	9202323	9202323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaagtaggtaaaatttcCgatgtcataagatgacacaa	8	5	1	3	rs140433904	by1000genomes	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:9202323C>T	uc003jek.2	-	9	1388	c.676G>A	c.(676-678)GGA>AGA	p.G226R		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	226	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						GTAAAATTTCCGATGTCATAA	0.423													T	9202323	C	T	9202323	3	4	12	1	0	0	0	0	1	0	0	0	14037	661	23	1	2608	1	SEMA5A	5	9202323	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1326839	9202323	171712937	371	10379											
CDH18	1016	broad.mit.edu	37	chr5	19473667	19473667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacttgagctcctcagcagCagaaggattcctcaaggctg	11	11	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:19473667C>T	uc003jgc.2	-	12	2418	c.2041G>A	c.(2041-2043)GCT>ACT	p.A681T	CDH18_uc003jgd.2_Missense_Mutation_p.A681T|CDH18_uc011cnm.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	681	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCCTCAGCAGCAGAAGGATTC	0.517													T	19473667	C	T	19473667	3	4	12	1	0	0	0	0	1	0	0	0	3103	710	25	2	335	2	CDH18	5	19473667	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	10271344	19473667	161441593	372	10380											
CDH12	1010	broad.mit.edu	37	chr5	21842333	21842333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgttgactattgttgttcCggctaatcctccaagctgtc	9	10	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:21842333C>T	uc010iuc.2	-	5	1209	c.751G>A	c.(751-753)GGA>AGA	p.G251R	CDH12_uc011cno.1_Missense_Mutation_p.G211R|CDH12_uc003jgk.2_Missense_Mutation_p.G251R	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	251	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						ATTGTTGTTCCGGCTAATCCT	0.428										HNSCC(59;0.17)			T	21842333	C	T	21842333	3	4	12	1	0	0	0	0	1	0	0	0	3098	661	23	1	1665	1	CDH12	5	21842333	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2368666	21842333	159072927	373	10381											
GOLPH3	64083	broad.mit.edu	37	chr5	32126538	32126538	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcggtgagggtcattcAcccatttgtcaagaacggct	11	11	3	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:32126538A>C	uc003jhp.1	-	4	962	c.677T>G	c.(676-678)GTG>GGG	p.V226G		NM_022130	NP_071413	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3	226					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			ovary(1)	1						AGGGTCATTCACCCATTTGTC	0.502													C	32126538	A	C	32126538	3	2	12	1	0	0	0	0	1	0	0	0	6568	159	6	5	223	5	GOLPH3	5	32126538	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	10284205	32126538	148788722	374	10382											
SUB1	10923	broad.mit.edu	37	chr5	32599082	32599082	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagattgggaaaatgaggTacgttagtgttcgcgatttt	13	4	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:32599082T>C	uc003jhs.2	+	4	339	c.211T>C	c.(211-213)TAC>CAC	p.Y71H	SUB1_uc003jht.2_RNA	NM_006713	NP_006704	P53999	TCP4_HUMAN	activated RNA polymerase II transcription	71					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus|transcription factor complex	protein binding|single-stranded DNA binding|transcription coactivator activity				0						GAAAATGAGGTACGTTAGTGT	0.368													C	32599082	T	C	32599082	3	2	12	1	0	0	0	0	1	0	0	0	15361	1638	57	3	221	3	SUB1	5	32599082	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	472544	32599082	148316178	375	10383											
AMACR	23600	broad.mit.edu	37	chr5	34004719	34004719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccttgccagtgcgtgtgCggtcaaaaagagccattata	11	10	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:34004719C>T	uc003jig.2	-	3	594	c.512G>A	c.(511-513)CGC>CAC	p.R171H	AMACR_uc003jih.2_Intron|AMACR_uc003jii.2_Missense_Mutation_p.R171H|AMACR_uc003jij.2_Missense_Mutation_p.R171H|AMACR_uc003jil.1_Missense_Mutation_p.R171H|AMACR_uc003jik.1_Intron	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase isoform 1	171					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity				0						AGTGCGTGTGCGGTCAAAAAG	0.478													T	34004719	C	T	34004719	3	4	12	1	0	0	0	0	1	0	0	0	562	768	27	1	978	1	AMACR	5	34004719	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1405637	34004719	146910541	376	10384											
DNAJC21	134218	broad.mit.edu	37	chr5	34954762	34954762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagagcaccttcatcatcGtctttaaacagcgcaacaag	7	12	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:34954762G>A	uc003jjc.2	+	12	1766	c.1539G>A	c.(1537-1539)TCG>TCA	p.S513S	DNAJC21_uc003jjb.2_Silent_p.S558S	NM_001012339	NP_001012339	Q5F1R6	DJC21_HUMAN	DnaJ homology subfamily A member 5 isoform 2	513					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|skin(1)	2	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			CTTCATCATCGTCTTTAAACA	0.393													A	34954762	G	A	34954762	2	1	12	1	0	0	0	0	0	0	0	1	4640	1132	40	1		1	DNAJC21	5	34954762	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	950043	34954762	145960498	377	10385											
EGFLAM	133584	broad.mit.edu	37	chr5	38370555	38370555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcccagtgacatcatcCggaccctctgtgagtaccag	11	14	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:38370555C>T	uc003jlc.1	+	6	1027	c.703C>T	c.(703-705)CGG>TGG	p.R235W	EGFLAM_uc003jlb.1_Missense_Mutation_p.R235W	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	235	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse		p.R235W(1)		pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					TGACATCATCCGGACCCTCTG	0.577													T	38370555	C	T	38370555	3	4	12	1	0	0	0	0	1	0	0	0	4966	643	23	1	725	1	EGFLAM	5	38370555	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3415793	38370555	142544705	378	10386											
DIMT1L	27292	broad.mit.edu	37	chr5	61686760	61686760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcactaaaacctgtgctgGttaggatttgctgtatttta	9	6	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:61686760G>A	uc003jta.2	-	11	971	c.842C>T	c.(841-843)ACC>ATC	p.T281I		NM_014473	NP_055288	Q9UNQ2	DIMT1_HUMAN	dimethyladenosine transferase	281				Missing (in Ref. 2; AAH02841).		nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			central_nervous_system(1)	1		Lung NSC(810;8.94e-06)|Prostate(74;0.0235)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.122)		ACCTGTGCTGGTTAGGATTTG	0.338													A	61686760	G	A	61686760	3	1	12	1	0	0	0	0	1	0	0	0	4523	1261	44	4	107	4	DIMT1L	5	61686760	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	23316205	61686760	119228500	379	10387											
DIMT1L	27292	broad.mit.edu	37	chr5	61686787	61686787	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgtattttatctgctAtgctgaaatcttctggtatt	7	6	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:61686787A>G	uc003jta.2	-	11	944	c.815T>C	c.(814-816)ATA>ACA	p.I272T		NM_014473	NP_055288	Q9UNQ2	DIMT1_HUMAN	dimethyladenosine transferase	272				IIPEDFSIADK -> VSAAVYPVKQI (in Ref. 2; AAH02841).		nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			central_nervous_system(1)	1		Lung NSC(810;8.94e-06)|Prostate(74;0.0235)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.122)		TTTATCTGCTATGCTGAAATC	0.343													G	61686787	A	G	61686787	3	3	12	1	0	0	0	0	1	0	0	0	4523	449	16	3	134	3	DIMT1L	5	61686787	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	27	61686787	119228473	380	10388											
IPO11	51194	broad.mit.edu	37	chr5	61770245	61770246	+	Frame_Shift_Ins	INS	-	-	T													ataatattcttttctagggtINStttttacatggaatatttga							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:61770244_61770245G>GT	uc011cqr.2	+	7	960_961	c.830_831G>GT	c.(829-831)ggtfs	p.G277fs	IPO11_uc003jtc.3_Frame_Shift_Ins_p.G237fs	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	237						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CTTTTCTAGGGTTTTTTACATG	0.277													T	61770246	-	T	61770245	7	5	12	1	0	1	1	0	0	0	0	0	7793	1712	60	0	861	0	IPO11	5	61770245	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	83458	61770245	119145015	381	10389											
ADAMTS6	11174	broad.mit.edu	37	chr5	64756033	64756033	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtgatcatacagatgtcGttgttgaagggcagactttt	12	5	1	5			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:64756033G>A	uc003jtp.2	-	4	1409	c.595C>T	c.(595-597)CGA>TGA	p.R199*	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Translation_Start_Site	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	199					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TACAGATGTCGTTGTTGAAGG	0.398													A	64756033	G	A	64756033	4	1	12	1	0	0	0	0	0	1	0	0	270	1153	40	1	2846	1	ADAMTS6	5	64756033	Nonsense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2985788	64756033	116159227	382	10390											
MAST4	375449	broad.mit.edu	37	chr5	66430464	66430464	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgaatttctggttggatgCgtgccattctttggggatac	12	6	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:66430464C>T	uc003jut.1	+	17	1841	c.1773C>T	c.(1771-1773)TGC>TGT	p.C591C	MAST4_uc003juu.1_Silent_p.C601C|MAST4_uc011cra.1_Silent_p.C574C|MAST4_uc003juv.2_Silent_p.C586C|MAST4_uc003juw.2_Silent_p.C586C	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	783	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TGGTTGGATGCGTGCCATTCT	0.468													T	66430464	C	T	66430464	2	4	12	1	0	0	0	0	0	0	0	1	9327	776	27	1		1	MAST4	5	66430464	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1674431	66430464	114484796	383	10391											
NAIP	4671	broad.mit.edu	37	chr5	70308328	70308328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagattcttcacccttatgtCgtacttggcaatgttaccaa	6	11	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:70308328C>T	uc003kar.1	-	4	1133	c.415G>A	c.(415-417)GAC>AAC	p.D139N	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.D139N|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein isoform	139					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ACCCTTATGTCGTACTTGGCA	0.483													T	70308328	C	T	70308328	3	4	12	1	0	0	0	0	1	0	0	0	10147	884	31	1	3852	1	NAIP	5	70308328	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3877864	70308328	110606932	384	10392											
UTP15	84135	broad.mit.edu	37	chr5	72868396	72868396	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcatcacaaaaccgtgacAtgtttatgtctaagcagctc	6	10	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:72868396A>G	uc003kcw.1	+	7	979	c.756A>G	c.(754-756)ACA>ACG	p.T252T	UTP15_uc011cso.1_Silent_p.T233T|UTP15_uc011csp.1_Silent_p.T62T|UTP15_uc010ize.1_Silent_p.T252T	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein,	252	WD 6.				rRNA processing	cytoplasm|nucleolus					0		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		AAACCGTGACATGTTTATGTC	0.348													G	72868396	A	G	72868396	2	3	12	1	0	0	0	0	0	0	0	1	17094	204	8	3		3	UTP15	5	72868396	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2560068	72868396	108046864	385	10393											
ENC1	8507	broad.mit.edu	37	chr5	73931957	73931957	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagcttccaggagcgaTtctgcattttcttcattgat	7	11	4	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:73931957T>C	uc003kdc.3	-	2	1485	c.354A>G	c.(352-354)GAA>GAG	p.E118E	ENC1_uc011css.1_Silent_p.E45E	NM_003633	NP_003624	O14682	ENC1_HUMAN	ectodermal-neural cortex (with BTB-like domain)	118				INEENAESLLEAGDMLEFQ -> HQLEGKCRNSLLGSLVTC WSFK (in Ref. 1).	nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			ovary(1)|pancreas(1)|skin(1)	3		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CCAGGAGCGATTCTGCATTTT	0.512													C	73931957	T	C	73931957	2	2	12	1	0	0	0	0	0	0	0	1	5113	1490	52	3		3	ENC1	5	73931957	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1063561	73931957	106983303	386	10394											
SV2C	22987	broad.mit.edu	37	chr5	75505643	75505643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcgaacacttgagctggCtctgcatgttctggatgatc	14	9	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:75505643C>T	uc003kei.1	+	4	978	c.844C>T	c.(844-846)CTC>TTC	p.L282F		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	282	Helical; (Potential).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CTTGAGCTGGCTCTGCATGTT	0.597													T	75505643	C	T	75505643	3	4	12	1	0	0	0	0	1	0	0	0	15416	797	28	2	854	2	SV2C	5	75505643	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1573686	75505643	105409617	387	10395											
DMGDH	29958	broad.mit.edu	37	chr5	78328598	78328598	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaacacttagactccagccTttgatagagcccactgactc	8	13	0	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:78328598T>C	uc003kfs.2	-	9	1435	c.1429A>G	c.(1429-1431)AGG>GGG	p.R477G	DMGDH_uc011cte.1_Missense_Mutation_p.R327G|DMGDH_uc011ctf.1_Missense_Mutation_p.R276G|DMGDH_uc011ctg.1_Missense_Mutation_p.R97G	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	477					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GACTCCAGCCTTTGATAGAGC	0.493													C	78328598	T	C	78328598	3	2	12	1	0	0	0	0	1	0	0	0	4581	1608	56	3	1203	3	DMGDH	5	78328598	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	2822955	78328598	102586662	388	10396											
THBS4	7060	broad.mit.edu	37	chr5	79372814	79372814	+	Frame_Shift_Del	DEL	C	C	-													atggtatcccagacctggtgCcccctggaccagacaactgc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:79372813_79372813GC>G	uc021yaw.1	+	15	2219	c.2028_2028GC>G	c.(2026-2028)gtgfs	p.V676fs	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	676					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CAGACCTGGTGCCCCCTGGAC	0.587													-	79372814	C	-	79372814	7	5	12	1	0	1	0	1	0	0	0	0	15853	739	26	0	2091	0	THBS4	5	79372814	Frame_Shift_Del	DEL	C	TCGA-BR-4257-01A-01D-1126-08	1044216	79372814	101542446	389	10397											
RHOBTB3	22836	broad.mit.edu	37	chr5	95099279	95099279	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagattctggggatgtttcAaatgtaatcgagaaagttaa	10	3	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:95099279A>G	uc003klm.2	+	7	1653	c.1116A>G	c.(1114-1116)TCA>TCG	p.S372S		NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	372					retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)|skin(1)	2		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GGGATGTTTCAAATGTAATCG	0.333													G	95099279	A	G	95099279	2	3	12	1	0	0	0	0	0	0	0	1	13335	117	5	3		3	RHOBTB3	5	95099279	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	15726465	95099279	85815981	390	10398											
RHOBTB3	22836	broad.mit.edu	37	chr5	95116113	95116113	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttagaatacctgtacacAgactcctgctgcccaggtta	7	11	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:95116113A>G	uc003klm.2	+	9	1977	c.1440A>G	c.(1438-1440)ACA>ACG	p.T480T		NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	480	BTB 2.|Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)|skin(1)	2		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		ACCTGTACACAGACTCCTGCT	0.383													G	95116113	A	G	95116113	2	3	12	1	0	0	0	0	0	0	0	1	13335	175	7	3		3	RHOBTB3	5	95116113	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	16834	95116113	85799147	391	10399											
CHD1	1105	broad.mit.edu	37	chr5	98236745	98236745	+	Frame_Shift_Del	DEL	T	T	-													cagatgaatcaatctgtctcTttttttgtccaagaatcttc					rs80342635		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:98236744_98236744CT>C	uc003knf.3	-	5	778	c.630_630AG>G	c.(628-630)aagfs	p.K210fs		NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	210					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CAATCTGTCTCTTTTTTTGTC	0.318													-	98236745	T	-	98236745	7	5	12	1	0	1	0	1	0	0	0	0	3323	1609	56	0	4623	0	CHD1	5	98236745	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	3120632	98236745	82678515	392	10400											
EFNA5	1946	broad.mit.edu	37	chr5	106763016	106763016	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acttcagcggtccatttggaGagtgaggccggttacattcc	12	10	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:106763016G>A	uc003kol.2	-	2	602	c.320C>T	c.(319-321)TCT>TTT	p.S107F	EFNA5_uc010jbr.1_Missense_Mutation_p.S107F	NM_001962	NP_001953	P52803	EFNA5_HUMAN	ephrin-A5 precursor	107					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding				0		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		TCCATTTGGAGAGTGAGGCCG	0.473													A	106763016	G	A	106763016	3	1	12	1	0	0	0	0	1	0	0	0	4954	942	33	4	382	4	EFNA5	5	106763016	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	8526271	106763016	74152244	393	10401											
EPB41L4A	64097	broad.mit.edu	37	chr5	111575375	111575375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtagcggtgcttataaCgtatggatccaaacttgctg	10	9	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:111575375C>T	uc003kpv.1	-	11	1221	c.947G>A	c.(946-948)CGT>CAT	p.R316H		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	316						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GTGCTTATAACGTATGGATCC	0.338													T	111575375	C	T	111575375	3	4	12	1	0	0	0	0	1	0	0	0	5155	536	19	1	1165	1	EPB41L4A	5	111575375	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	4812359	111575375	69339885	394	10402											
EPB41L4A	64097	broad.mit.edu	37	chr5	111576502	111576502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaaaagaatgaggtttcGttacactaagagagaaagag	10	4	1	5			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:111576502G>A	uc003kpv.1	-	10	1075	c.801C>T	c.(799-801)AAC>AAT	p.N267N		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	267	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		ATGAGGTTTCGTTACACTAAG	0.368													A	111576502	G	A	111576502	2	1	12	1	0	0	0	0	0	0	0	1	5155	1136	40	1		1	EPB41L4A	5	111576502	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1127	111576502	69338758	395	10403											
KCNN2	3781	broad.mit.edu	37	chr5	113698843	113698843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctacaagctgggccaccGgcgcgccctgttcgaaaagc	13	15	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:113698843G>A	uc003kqo.2	+	1	828	c.371G>A	c.(370-372)CGG>CAG	p.R124Q		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	124						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CTGGGCCACCGGCGCGCCCTG	0.443													A	113698843	G	A	113698843	3	1	12	1	0	0	0	0	1	0	0	0	8079	1116	39	1	373	1	KCNN2	5	113698843	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2122341	113698843	67216417	396	10404											
TMED7-TICAM2	100302736	broad.mit.edu	37	chr5	114916761	114916761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcaaacatctcttccaCgctctgagctccctcctgct	4	17	4	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:114916761C>T	uc003krd.2	-	4	1199	c.193G>A	c.(193-195)GTG>ATG	p.V65M	TMED7-TICAM2_uc003kre.2_Missense_Mutation_p.V234M|TICAM2_uc003krc.2_Missense_Mutation_p.V65M	NM_021649	NP_067681	Q86XR7	TCAM2_HUMAN	toll-like receptor adaptor molecule 2	65					I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Golgi apparatus|intrinsic to membrane|plasma membrane	protein binding|transmembrane receptor activity				0						ATCTCTTCCACGCTCTGAGCT	0.458													T	114916761	C	T	114916761	3	4	12	1	0	0	0	0	1	0	0	0	16007	536	19	1		1	TMED7-TICAM2	5	114916761	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1217918	114916761	65998499	397	10405											
DMXL1	1657	broad.mit.edu	37	chr5	118445967	118445967	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggagattggaaatgcatTtggcattgcaagtaagcaat	11	4	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:118445967T>C	uc003ksd.2	+	5	667	c.486T>C	c.(484-486)ATT>ATC	p.I162I	DMXL1_uc010jcl.1_Silent_p.I162I|DMXL1_uc003ksc.1_Silent_p.I162I	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	162										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GGAAATGCATTTGGCATTGCA	0.333													C	118445967	T	C	118445967	2	2	12	1	0	0	0	0	0	0	0	1	4594	1829	64	3		3	DMXL1	5	118445967	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	3529206	118445967	62469293	398	10406											
HSD17B4	3295	broad.mit.edu	37	chr5	118792054	118792054	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgcagaaagaggagcgTtagttgttggtaagttggtg	15	3	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:118792054T>C	uc003ksj.2	+	2	226	c.103T>C	c.(103-105)TTA>CTA	p.L35L	HSD17B4_uc011cwg.1_5'UTR|HSD17B4_uc011cwh.1_Intron|HSD17B4_uc011cwi.1_Missense_Mutation_p.V38A|HSD17B4_uc003ksk.3_5'UTR	NM_000414	NP_000405	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	35	NAD (By similarity).|(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			ovary(1)|pancreas(1)	2		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	AAGAGGAGCGTTAGTTGTTGG	0.338													C	118792054	T	C	118792054	2	2	12	1	0	0	0	0	0	0	0	1	7386	1722	60	3		3	HSD17B4	5	118792054	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	346087	118792054	62123206	399	10407											
LOX	4015	broad.mit.edu	37	chr5	121409818	121409818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactctcctctgggtgttggCatcaagcaggtcatagtggc	12	11	4	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:121409818C>T	uc003ksu.2	-	4	1300	c.925G>A	c.(925-927)GCC>ACC	p.A309T	LOX_uc010jcp.2_Missense_Mutation_p.A12T|LOX_uc010jcq.2_Missense_Mutation_p.A12T|LOX_uc011cwk.1_Missense_Mutation_p.A79T|LOX_uc010jcr.2_Missense_Mutation_p.A12T	NM_002317	NP_002308	P28300	LYOX_HUMAN	lysyl oxidase preproprotein	309	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			lung(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		TGGGTGTTGGCATCAAGCAGG	0.458													T	121409818	C	T	121409818	3	4	12	1	0	0	0	0	1	0	0	0	8898	710	25	2	344	2	LOX	5	121409818	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2617764	121409818	59505442	400	10408											
RAD50	10111	broad.mit.edu	37	chr5	131972826	131972826	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcaataatgaaatttcacAgtatgaaaatggaagaaatc	8	4	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:131972826A>G	uc003kxi.2	+	22	3796	c.3409A>G	c.(3409-3411)AGT>GGT	p.S1137G	RAD50_uc003kxh.2_Missense_Mutation_p.S998G	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	1137					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAAATTTCACAGTATGAAAAT	0.279								Homologous_recombination					G	131972826	A	G	131972826	3	3	12	1	0	0	0	0	1	0	0	0	12984	188	7	3	3495	3	RAD50	5	131972826	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	10563008	131972826	48942434	401	10409											
AFF4	27125	broad.mit.edu	37	chr5	132232456	132232456	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctttttctctgctgtaggTcgaggggaagacttagactc	11	8	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:132232456T>C	uc003kyd.2	-	11	2274	c.1866A>G	c.(1864-1866)CGA>CGG	p.R622R	AFF4_uc011cxk.1_Silent_p.R300R|AFF4_uc003kye.1_Silent_p.R622R	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	622					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGCTGTAGGTCGAGGGGAAG	0.428													C	132232456	T	C	132232456	2	2	12	1	0	0	0	0	0	0	0	1	359	1654	58	3		3	AFF4	5	132232456	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	259630	132232456	48682804	402	10410											
SMAD5	4090	broad.mit.edu	37	chr5	135510101	135510101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttggtggagaggtgtatgCggaatgcctcagtgacagca	16	6	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:135510101C>T	uc003lbj.1	+	8	1478	c.1034C>T	c.(1033-1035)GCG>GTG	p.A345V	SMAD5_uc003lbk.1_Missense_Mutation_p.A345V|SMAD5_uc003lbl.1_Missense_Mutation_p.A345V	NM_001001419	NP_001001419	Q99717	SMAD5_HUMAN	SMAD family member 5	345	MH2.				BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGGTGTATGCGGAATGCCTC	0.423													T	135510101	C	T	135510101	3	4	12	1	0	0	0	0	1	0	0	0	14761	768	27	1	1052	1	SMAD5	5	135510101	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3277645	135510101	45405159	403	10411											
TRPC7	57113	broad.mit.edu	37	chr5	135692700	135692700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgaaggccgggtggttgaGgatggcctccacgatgcgca	17	11	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:135692700G>A	uc003lbn.1	-	1	376	c.373C>T	c.(373-375)CTC>TTC	p.L125F	TRPC7_uc010jef.1_Missense_Mutation_p.L117F|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.L117F|TRPC7_uc010jei.1_Missense_Mutation_p.L117F|TRPC7_uc010jej.1_5'UTR	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	126	Cytoplasmic (Potential).|ANK 3.				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGTGGTTGAGGATGGCCTCC	0.667													A	135692700	G	A	135692700	3	1	12	1	0	0	0	0	1	0	0	0	16581	1000	35	4	2256	4	TRPC7	5	135692700	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	182599	135692700	45222560	404	10412											
KDM3B	51780	broad.mit.edu	37	chr5	137717276	137717276	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataattcagcgcctcaaagCgaggtacagtaatggactgc	11	9	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:137717276C>T	uc003lcy.1	+	6	977	c.777C>T	c.(775-777)AGC>AGT	p.S259S	KDM3B_uc010jew.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	259					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						CGCCTCAAAGCGAGGTACAGT	0.428													T	137717276	C	T	137717276	2	4	12	1	0	0	0	0	0	0	0	1	8127	767	27	1		1	KDM3B	5	137717276	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2024576	137717276	43197984	405	10413											
TMCO6	55374	broad.mit.edu	37	chr5	140024251	140024251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccgccttgctgcacacaCtagccttttctgacactgaa	6	15	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140024251C>T	uc003lgl.2	+	11	1395	c.1294C>T	c.(1294-1296)CTA>TTA	p.L432L	TMCO6_uc003lgm.2_Silent_p.L438L|TMCO6_uc010jft.2_Silent_p.L192L|TMCO6_uc003lgn.2_Silent_p.L323L|TMCO6_uc003lgo.2_Silent_p.L192L	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	432					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCACACACTAGCCTTTTC	0.552													T	140024251	C	T	140024251	2	4	12	1	0	0	0	0	0	0	0	1	15997	564	20	4		4	TMCO6	5	140024251	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2306975	140024251	40891009	406	10414											
PCDHA1	56147	broad.mit.edu	37	chr5	140165915	140165915	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggggcctgggagcccgggatCtgcttctttggcttctgctc	15	12	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140165915C>A	uc003lhb.2	+	1	40	c.40C>A	c.(40-42)CTG>ATG	p.L14M	PCDHA1_uc003lha.2_Missense_Mutation_p.L14M|PCDHA1_uc003lgz.2_Missense_Mutation_p.L14M	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	14					homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCGGGATCTGCTTCTTTG	0.552													A	140165915	C	A	140165915	3	1	12	1	0	0	0	0	1	0	0	0	11519	912	32	5	42	5	PCDHA1	5	140165915	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	141664	140165915	40749345	407	10415											
PCDHA3	56145	broad.mit.edu	37	chr5	140181913	140181913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcagcgtgtccgaccgCgactcaggagtcaatggaca	12	12	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140181913C>T	uc003lhf.2	+	1	1131	c.1131C>T	c.(1129-1131)CGC>CGT	p.R377R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.R377R	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	377	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCGACCGCGACTCAGGAG	0.488													T	140181913	C	T	140181913	2	4	12	1	0	0	0	0	0	0	0	1	11525	755	27	1		1	PCDHA3	5	140181913	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	15998	140181913	40733347	408	10416											
PCDHA4	56144	broad.mit.edu	37	chr5	140188818	140188818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaggcctcctcacgggcGttggtgggcgctgtgggtcc	16	13	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140188818G>A	uc003lhi.2	+	1	2147	c.2046G>A	c.(2044-2046)GCG>GCA	p.A682A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.A682A|PCDHA4_uc011daa.1_Silent_p.A682A	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	682	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCACGGGCGTTGGTGGGCG	0.637													A	140188818	G	A	140188818	2	1	12	1	0	0	0	0	0	0	0	1	11526	1132	40	1		1	PCDHA4	5	140188818	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	6905	140188818	40726442	409	10417											
PCDHA7	56141	broad.mit.edu	37	chr5	140215781	140215781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctgactcaggctacaacGcgtggctttcgtatgagttg	12	10	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140215781G>A	uc003lhq.2	+	1	1813	c.1813G>A	c.(1813-1815)GCG>ACG	p.A605T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A605T	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	605	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCTACAACGCGTGGCTTTC	0.637													A	140215781	G	A	140215781	3	1	12	1	0	0	0	0	1	0	0	0	11529	1087	38	1	1815	1	PCDHA7	5	140215781	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	26963	140215781	40699479	410	10418											
PCDHA9	9752	broad.mit.edu	37	chr5	140229616	140229616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctacgtgtcagtgcacgcGgagagcggcaaggtgtacgc	16	10	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140229616G>A	uc003lhu.2	+	1	2260	c.1536G>A	c.(1534-1536)GCG>GCA	p.A512A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.A512A	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	512	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGCACGCGGAGAGCGGCA	0.701													A	140229616	G	A	140229616	2	1	12	1	0	0	0	0	0	0	0	1	11531	1103	39	1		1	PCDHA9	5	140229616	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	13835	140229616	40685644	411	10419											
PCDHA10	56139	broad.mit.edu	37	chr5	140236079	140236079	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaatccagactgcttgactCtcgatttccactagaaggcg	9	11	1	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140236079C>A	uc003lhx.2	+	1	446	c.446C>A	c.(445-447)TCT>TAT	p.S149Y	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.S149Y|PCDHA10_uc011dad.1_Missense_Mutation_p.S149Y	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	149	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTTGACTCTCGATTTCCA	0.438													A	140236079	C	A	140236079	3	1	12	1	0	0	0	0	1	0	0	0	11520	913	32	5	448	5	PCDHA10	5	140236079	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	6463	140236079	40679181	412	10420											
PCDHA11	56138	broad.mit.edu	37	chr5	140249397	140249397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaagtcttggatgtcaacGacaatgatccagagtttgat	9	8	2	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140249397G>A	uc003lia.2	+	1	1567	c.709G>A	c.(709-711)GAC>AAC	p.D237N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.D237N	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	237	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGTCAACGACAATGATCC	0.443													A	140249397	G	A	140249397	3	1	12	1	0	0	0	0	1	0	0	0	11521	1058	37	1	711	1	PCDHA11	5	140249397	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	13318	140249397	40665863	413	10421											
PCDHA13	56136	broad.mit.edu	37	chr5	140262322	140262322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgatttccactagatggcGcatccgatgcagatattgga	10	10	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140262322G>A	uc003lif.2	+	1	469	c.469G>A	c.(469-471)GCA>ACA	p.A157T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A157T|PCDHA13_uc003lid.2_Missense_Mutation_p.A157T	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	157	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTAGATGGCGCATCCGATGC	0.458													A	140262322	G	A	140262322	3	1	12	1	0	0	0	0	1	0	0	0	11523	1087	38	1	471	1	PCDHA13	5	140262322	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	12925	140262322	40652938	414	10422											
PCDHB5	26167	broad.mit.edu	37	chr5	140516378	140516378	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgccttcacccaaacctcCtacaccctgttcgtccgaga	5	20	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140516378C>A	uc003liq.2	+	1	1579	c.1362C>A	c.(1360-1362)TCC>TCA	p.S454S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	454	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAAACCTCCTACACCCTGT	0.602													A	140516378	C	A	140516378	2	1	12	1	0	0	0	0	0	0	0	1	11545	668	24	5		5	PCDHB5	5	140516378	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	254056	140516378	40398882	415	10423											
PCDHB11	56125	broad.mit.edu	37	chr5	140581504	140581504	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcaggaggagcagggcGgcctcggtgggaagctgctc	19	10	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140581504G>A	uc003liy.2	+	1	2157	c.2157G>A	c.(2155-2157)GCG>GCA	p.A719A	PCDHB11_uc011daj.1_Silent_p.A354A	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	719	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCAGGGCGGCCTCGGTGG	0.652													A	140581504	G	A	140581504	2	1	12	1	0	0	0	0	0	0	0	1	11536	1103	39	1		1	PCDHB11	5	140581504	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	65126	140581504	40333756	416	10424											
PCDHB15	56121	broad.mit.edu	37	chr5	140626516	140626516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcacccaaacctcctacaCcctgttcgtccgcgagaaca	5	18	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140626516C>T	uc003lje.2	+	1	1370	c.1370C>T	c.(1369-1371)ACC>ATC	p.T457I		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	457	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTCCTACACCCTGTTCGTC	0.612													T	140626516	C	T	140626516	3	4	12	1	0	0	0	0	1	0	0	0	11540	507	18	4	1372	4	PCDHB15	5	140626516	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	45012	140626516	40288744	417	10425											
PCDHGA4	56111	broad.mit.edu	37	chr5	140735488	140735488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataccaacgataatgctcccGtgttcactcagcccgagtac	7	14	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140735488G>A	uc003ljq.1	+	1	721	c.721G>A	c.(721-723)GTG>ATG	p.V241M	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.V241M	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	241	Extracellular (Potential).|Cadherin 2.				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)			TAATGCTCCCGTGTTCACTCA	0.532													A	140735488	G	A	140735488	3	1	12	1	0	0	0	0	1	0	0	0	11556	1145	40	1	723	1	PCDHGA4	5	140735488	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	108972	140735488	40179772	418	10426											
PCDHGA10	56106	broad.mit.edu	37	chr5	140794641	140794641	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgggcgaggtgcgcacggcGcgagccctgctggacagaga	18	12	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140794641G>C	uc003lkl.1	+	1	1899	c.1899G>C	c.(1897-1899)GCG>GCC	p.A633A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.A633A|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	633	Cadherin 6.|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)			TGCGCACGGCGCGAGCCCTGC	0.697													C	140794641	G	C	140794641	2	2	12	1	0	0	0	0	0	0	0	1	11551	1074	38	5		5	PCDHGA10	5	140794641	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	59153	140794641	40120619	419	10427											
PCDHGA11	56105	broad.mit.edu	37	chr5	140801363	140801363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggggcagaacggatggggCcaagaatccagagctagtac	16	9	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140801363C>T	uc003lkq.1	+	1	827	c.569C>T	c.(568-570)GCC>GTC	p.A190V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.A190V|PCDHGA11_uc003lkp.1_Missense_Mutation_p.A190V	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	190	Extracellular (Potential).|Cadherin 2.				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)			ACGGATGGGGCCAAGAATCCA	0.552													T	140801363	C	T	140801363	3	4	12	1	0	0	0	0	1	0	0	0	11552	739	26	2	571	2	PCDHGA11	5	140801363	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	6722	140801363	40113897	420	10428											
PCDHGC3	5098	broad.mit.edu	37	chr5	140856231	140856231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgaatactttgcgcttcGcgtgcagacgcgggaggaca	13	9	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140856231G>A	uc003lkv.1	+	1	663	c.548G>A	c.(547-549)CGC>CAC	p.R183H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.R183H|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	183	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGCGCTTCGCGTGCAGACG	0.612													A	140856231	G	A	140856231	3	1	12	1	0	0	0	0	1	0	0	0	11569	1087	38	1	550	1	PCDHGC3	5	140856231	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	54868	140856231	40059029	421	10429											
DIAPH1	1729	broad.mit.edu	37	chr5	140896555	140896555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctagcagagatgtgactgCacacccggccttcctgttgg	12	12	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140896555C>T	uc003llb.3	-	29	3823	c.3682G>A	c.(3682-3684)GCA>ACA	p.A1228T	DIAPH1_uc011dbd.1_Silent_p.V139V|DIAPH1_uc003llc.3_Missense_Mutation_p.A1219T	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	1228					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGTGACTGCACACCCGGCC	0.498													T	140896555	C	T	140896555	3	4	12	1	0	0	0	0	1	0	0	0	4518	710	25	2	140	2	DIAPH1	5	140896555	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	40324	140896555	40018705	422	10430											
PCDH12	51294	broad.mit.edu	37	chr5	141336022	141336022	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcccgcgtggagacttcAtacctgcttttctcaaacac	6	13	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:141336022A>G	uc003llx.2	-	1	2606	c.1395T>C	c.(1393-1395)TAT>TAC	p.Y465Y		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	465	Extracellular (Potential).|Cadherin 5.				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGACTTCATACCTGCTTT	0.473													G	141336022	A	G	141336022	2	3	12	1	0	0	0	0	0	0	0	1	11510	224	8	3		3	PCDH12	5	141336022	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	439467	141336022	39579238	423	10431											
GNPDA1	10007	broad.mit.edu	37	chr5	141384619	141384619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggccagcgtcttcacacGggtcctggacaccagactgg	12	14	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:141384619G>A	uc003lmf.3	-	4	1231	c.472C>T	c.(472-474)CGT>TGT	p.R158C	GNPDA1_uc003lmg.3_Missense_Mutation_p.R158C|GNPDA1_uc010jgh.2_Missense_Mutation_p.R158C|GNPDA1_uc003lmh.3_Missense_Mutation_p.R124C	NM_005471	NP_005462	P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	158					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity				0		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTTCACACGGGTCCTGGAC	0.607													A	141384619	G	A	141384619	3	1	12	1	0	0	0	0	1	0	0	0	6542	1116	39	1	409	1	GNPDA1	5	141384619	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	48597	141384619	39530641	424	10432											
ADRB2	154	broad.mit.edu	37	chr5	148207339	148207339	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctcctaaattggataggCtatgtcaattctggtttcaa	7	8	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:148207339C>T	uc003lpr.1	+	1	1184	c.945C>T	c.(943-945)GGC>GGT	p.G315G	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	315	Agonist and antagonist binding.|Helical; Name=7.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	ATTGGATAGGCTATGTCAATT	0.483													T	148207339	C	T	148207339	2	4	12	1	0	0	0	0	0	0	0	1	341	784	28	2		2	ADRB2	5	148207339	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	6822720	148207339	32707921	425	10433											
AFAP1L1	134265	broad.mit.edu	37	chr5	148699169	148699169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgttcagaggacatgggtCgctggctcgggctgctgctg	17	10	1	1	rs143811672	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:148699169C>T	uc003lqh.2	+	13	1635	c.1504C>T	c.(1504-1506)CGC>TGC	p.R502C	AFAP1L1_uc010jgy.2_Missense_Mutation_p.R502C|AFAP1L1_uc003lqi.1_Missense_Mutation_p.R117C	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	502	PH 2.						protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACATGGGTCGCTGGCTCGG	0.562													T	148699169	C	T	148699169	3	4	12	1	0	0	0	0	1	0	0	0	354	884	31	1	1554	1	AFAP1L1	5	148699169	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	491830	148699169	32216091	426	10434											
TIGD6	81789	broad.mit.edu	37	chr5	149375760	149375760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttttcttcaaatttggtgCgatcctttaagaatgtagat	7	7	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:149375760C>T	uc003lri.2	-	2	914	c.152G>A	c.(151-153)CGC>CAC	p.R51H	TIGD6_uc003lrj.2_Missense_Mutation_p.R51H	NM_030953	NP_112215	Q17RP2	TIGD6_HUMAN	hypothetical protein LOC81789	51	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AAATTTGGTGCGATCCTTTAA	0.453													T	149375760	C	T	149375760	3	4	12	1	0	0	0	0	1	0	0	0	15897	768	27	1	1417	1	TIGD6	5	149375760	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	676591	149375760	31539500	427	10435											
SYNPO	11346	broad.mit.edu	37	chr5	150029539	150029539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagccgccataccagctgCgcccctcgctctttgtcctc	8	19	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:150029539C>T	uc003lsn.2	+	3	2808	c.2434C>T	c.(2434-2436)CGC>TGC	p.R812C	SYNPO_uc003lso.3_Missense_Mutation_p.R568C|SYNPO_uc003lsp.2_Missense_Mutation_p.R568C	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	812	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATACCAGCTGCGCCCCTCGCT	0.662													T	150029539	C	T	150029539	3	4	12	1	0	0	0	0	1	0	0	0	15453	768	27	1	2440	1	SYNPO	5	150029539	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	653779	150029539	30885721	428	10436											
RBM22	55696	broad.mit.edu	37	chr5	150075217	150075217	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgattccgtaataacggtcTttaatattctgatcagcaag	7	7	3	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:150075217T>C	uc003lst.2	-	7	719	c.597A>G	c.(595-597)AAA>AAG	p.K199K		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	199					protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding				0		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATAACGGTCTTTAATATTCT	0.428													C	150075217	T	C	150075217	2	2	12	1	0	0	0	0	0	0	0	1	13122	1606	56	3		3	RBM22	5	150075217	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	45678	150075217	30840043	429	10437											
FAT2	2196	broad.mit.edu	37	chr5	150932868	150932868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggccagagggatggaggaCggccggggccaagggatcca	19	9	0	1	rs150507279		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:150932868C>T	uc003lue.3	-	5	4039	c.4026G>A	c.(4024-4026)CCG>CCA	p.P1342P	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1342	Extracellular (Potential).|Cadherin 11.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGATGGAGGACGGCCGGGGCC	0.582													T	150932868	C	T	150932868	2	4	12	1	0	0	0	0	0	0	0	1	5690	523	19	1		1	FAT2	5	150932868	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	857651	150932868	29982392	430	10438											
RNF145	153830	broad.mit.edu	37	chr5	158596066	158596066	+	Splice_Site	DEL	A	A	-													actccttctgtcatgcccctAaaaaaagcatacattttcag							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:158596065_158596065TA>T	uc010jiq.2	-	8	1179	c.1029_splice	c.e8-1	p.R343_splice	RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	313						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATGCCCCTAAAAAAAGCA	0.363													-	158596066	A	-	158596066	8	5	12	1	0	1	0	1	0	0	1	0	13447	377	13	0		0	RNF145	5	158596066	Splice_Site	DEL	A	TCGA-BR-4257-01A-01D-1126-08	7663198	158596066	22319194	431	10439											
GABRG2	2566	broad.mit.edu	37	chr5	161576143	161576143	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcctgacaatgaccaccCtcagcaccattgcccggaaa	7	16	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:161576143C>A	uc003lyz.3	+	8	1310	c.952C>A	c.(952-954)CTC>ATC	p.L318I	GABRG2_uc010jjc.2_Missense_Mutation_p.L358I|GABRG2_uc003lyy.3_Missense_Mutation_p.L318I|GABRG2_uc011dej.1_Missense_Mutation_p.L223I	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	318	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AATGACCACCCTCAGCACCAT	0.468													A	161576143	C	A	161576143	3	1	12	1	0	0	0	0	1	0	0	0	6172	681	24	5	1106	5	GABRG2	5	161576143	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2980077	161576143	19339117	432	10440											
DOCK2	1794	broad.mit.edu	37	chr5	169477279	169477279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacaaagtgttcatctaccGcgggaaggaatatgagcgaa	12	7	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:169477279G>A	uc003maf.2	+	41	4171	c.4091G>A	c.(4090-4092)CGC>CAC	p.R1364H	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R856H	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1364	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCATCTACCGCGGGAAGGAA	0.502													A	169477279	G	A	169477279	3	1	12	1	0	0	0	0	1	0	0	0	4687	1087	38	1	4253	1	DOCK2	5	169477279	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	7901136	169477279	11437981	433	10441											
HRH2	3274	broad.mit.edu	37	chr5	175110585	175110585	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgatcagcctcgaccggTactgcgctgtcatggaccca	10	14	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:175110585T>C	uc003mdd.2	+	1	2122	c.349T>C	c.(349-351)TAC>CAC	p.Y117H	HRH2_uc003mdc.3_Missense_Mutation_p.Y117H	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	117	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CCTCGACCGGTACTGCGCTGT	0.542													C	175110585	T	C	175110585	3	2	12	1	0	0	0	0	1	0	0	0	7356	1638	57	3	351	3	HRH2	5	175110585	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	5633306	175110585	5804675	434	10442											
EIF4E1B	253314	broad.mit.edu	37	chr5	176072487	176072487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgtgtggacgagggaggCggaaaaccaggcgggcgtgc	20	9	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:176072487C>T	uc010jkf.1	+	8	1168	c.584C>T	c.(583-585)GCG>GTG	p.A195V	TSPAN17_uc003mes.3_5'Flank|TSPAN17_uc003met.2_5'Flank|TSPAN17_uc003meu.2_5'Flank|TSPAN17_uc003mev.2_5'Flank|TSPAN17_uc003mew.2_5'Flank	NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E	195					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity				0	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACGAGGGAGGCGGAAAACCAG	0.627													T	176072487	C	T	176072487	3	4	12	1	0	0	0	0	1	0	0	0	5029	768	27	1	606	1	EIF4E1B	5	176072487	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	961902	176072487	4842773	435	10443											
HK3	3101	broad.mit.edu	37	chr5	176308391	176308391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccggatcttctccaccaCggcagctacacccgccccac	6	22	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:176308391C>T	uc003mfa.2	-	18	2631	c.2539G>A	c.(2539-2541)GTG>ATG	p.V847M	HK3_uc003mez.2_Missense_Mutation_p.V403M	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	847	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTCCACCACGGCAGCTACA	0.652													T	176308391	C	T	176308391	3	4	12	1	0	0	0	0	1	0	0	0	7192	536	19	1	240	1	HK3	5	176308391	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	235904	176308391	4606869	436	10444											
FGFR4	2264	broad.mit.edu	37	chr5	176520703	176520703	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctttggccaggtagtAcgtgcagaggcctttggcat	15	9	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:176520703A>G	uc003mfl.2	+	11	1613	c.1446A>G	c.(1444-1446)GTA>GTG	p.V482V	FGFR4_uc003mfm.2_Silent_p.V482V|FGFR4_uc011dfu.1_Silent_p.V414V|FGFR4_uc003mfo.2_Silent_p.V442V	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	482	Protein kinase.|Cytoplasmic (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GCCAGGTAGTACGTGCAGAGG	0.562										TSP Lung(9;0.080)			G	176520703	A	G	176520703	2	3	12	1	0	0	0	0	0	0	0	1	5868	378	14	3		3	FGFR4	5	176520703	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	212312	176520703	4394557	437	10445											
ZFP2	80108	broad.mit.edu	37	chr5	178359697	178359697	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacatcaaagaactcatacGtgaggaatgttttcactggc	9	9	3	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:178359697G>A	uc003mjn.1	+	5	1892	c.1383G>A	c.(1381-1383)ACG>ACA	p.T461T	ZFP2_uc010jky.2_Silent_p.T461T|ZFP2_uc010jkx.1_Silent_p.T461T	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GAACTCATACGTGAGGAATGT	0.388													A	178359697	G	A	178359697	2	1	12	1	0	0	0	0	0	0	0	1	17638	1132	40	1		1	ZFP2	5	178359697	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1838994	178359697	2555563	438	10446											
MGAT4B	11282	broad.mit.edu	37	chr5	179227025	179227025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagtgcaaagttcttcAtggtgctcaggtagttgggc	14	8	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:179227025A>G	uc003mks.2	-	8	1208	c.839T>C	c.(838-840)ATG>ACG	p.M280T	MGAT4B_uc003mkp.2_Missense_Mutation_p.M135T|MGAT4B_uc003mkq.2_Missense_Mutation_p.M135T|MGAT4B_uc003mkr.2_Missense_Mutation_p.M295T|MIR1229_hsa-mir-1229|MI0006319_5'Flank	NM_014275	NP_055090	Q9UQ53	MGT4B_HUMAN	alpha-1,3-mannosyl-glycoprotein	280	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding				0	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAAGTTCTTCATGGTGCTCAG	0.602													G	179227025	A	G	179227025	3	3	12	1	0	0	0	0	1	0	0	0	9546	217	8	3	839	3	MGAT4B	5	179227025	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	867328	179227025	1688235	439	10447											
TRIM41	90933	broad.mit.edu	37	chr5	180651518	180651518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtcaccccactgcccccGcctccagcccctcggaggtg	9	23	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:180651518G>A	uc003mne.1	+	1	1213	c.519G>A	c.(517-519)CCG>CCA	p.P173P	uc003mnb.1_3'UTR|TRIM41_uc003mnc.1_Silent_p.P173P|TRIM41_uc003mnd.1_Silent_p.P173P|TRIM41_uc003mnf.1_RNA	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	tripartite motif-containing 41 isoform 1	173						cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding				0	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACTGCCCCCGCCTCCAGCCC	0.418													A	180651518	G	A	180651518	2	1	12	1	0	0	0	0	0	0	0	1	16513	1074	38	1		1	TRIM41	5	180651518	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1424493	180651518	263742	440	10448											
GCM2	9247	broad.mit.edu	37	chr6	10874821	10874821	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaattgacattacattgtaGtgtgttcagatgaacccagt	9	6	1	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:10874821G>A	uc003mzn.3	-	5	1000	c.928C>T	c.(928-930)CTA>TTA	p.L310L	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	glial cells missing homolog 2	310					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TTACATTGTAGTGTGTTCAGA	0.428													A	10874821	G	A	10874821	2	1	12	1	0	0	0	0	0	0	0	1	6298	1020	36	4		4	GCM2	6	10874821	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08		10874821	160240246	441	10449											
C6orf105	84830	broad.mit.edu	37	chr6	11778881	11778881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccaccttgcaccatttgCcaagattttgggtttcacct	6	12	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:11778881C>T	uc003nab.2	-	1	400	c.112G>A	c.(112-114)GCA>ACA	p.A38T	C6orf105_uc011dip.1_Missense_Mutation_p.A38T	NM_032744	NP_116133	Q96IZ2	CF105_HUMAN	hypothetical protein LOC84830 isoform 2	38						integral to membrane					0	Ovarian(93;0.0848)|Breast(50;0.0871)	all_hematologic(90;0.135)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.193)			GCACCATTTGCCAAGATTTTG	0.418													T	11778881	C	T	11778881	3	4	12	1	0	0	0	0	1	0	0	0	2318	739	26	2	662	2	C6orf105	6	11778881	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	904060	11778881	159336186	442	10450											
EDN1	1906	broad.mit.edu	37	chr6	12296244	12296244	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcttttcatgatcccaagCtgaaaggcaagccctccaga	7	13	2	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:12296244C>T	uc003nae.3	+	5	917	c.583C>T	c.(583-585)CTG>TTG	p.L195L	EDN1_uc003nad.2_3'UTR|EDN1_uc003naf.3_Silent_p.L194L	NM_001955	NP_001946	P05305	EDN1_HUMAN	endothelin 1 precursor	195					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			skin(1)	1	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				TGATCCCAAGCTGAAAGGCAA	0.463													T	12296244	C	T	12296244	2	4	12	1	0	0	0	0	0	0	0	1	4916	796	28	2		2	EDN1	6	12296244	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	517363	12296244	158818823	443	10451											
JARID2	3720	broad.mit.edu	37	chr6	15501269	15501269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccagaactgcccaggacCggctggccaagctgcaggag	13	15	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:15501269C>T	uc003nbj.2	+	8	2321	c.2077C>T	c.(2077-2079)CGG>TGG	p.R693W	JARID2_uc011div.1_Missense_Mutation_p.R521W|JARID2_uc011diw.1_Missense_Mutation_p.R655W	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	693	ARID.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGCCCAGGACCGGCTGGCCAA	0.587													T	15501269	C	T	15501269	3	4	12	1	0	0	0	0	1	0	0	0	7945	643	23	1	2107	1	JARID2	6	15501269	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3205025	15501269	155613798	444	10452											
JARID2	3720	broad.mit.edu	37	chr6	15507634	15507634	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggtccatcctgcgtcacctCggtgctgtgcctggtaagcc	13	14	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:15507634C>T	uc003nbj.2	+	11	2962	c.2718C>T	c.(2716-2718)CTC>CTT	p.L906L	JARID2_uc011div.1_Silent_p.L734L|JARID2_uc011diw.1_Silent_p.L868L	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	906	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGCGTCACCTCGGTGCTGTGC	0.582													T	15507634	C	T	15507634	2	4	12	1	0	0	0	0	0	0	0	1	7945	871	31	1		1	JARID2	6	15507634	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	6365	15507634	155607433	445	10453											
JARID2	3720	broad.mit.edu	37	chr6	15520429	15520429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgacagtggacgtgcccCcctcccgtctgtcagcctcc	11	18	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:15520429C>T	uc003nbj.2	+	18	3932	c.3688C>T	c.(3688-3690)CCC>TCC	p.P1230S	JARID2_uc011div.1_Missense_Mutation_p.P1058S	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	1230					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGACGTGCCCCCCTCCCGTCT	0.373													T	15520429	C	T	15520429	3	4	12	1	0	0	0	0	1	0	0	0	7945	623	22	4	3758	4	JARID2	6	15520429	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	12795	15520429	155594638	446	10454											
DTNBP1	84062	broad.mit.edu	37	chr6	15524787	15524789	+	In_Frame_Del	DEL	CTC	CTC	-													ggacagcacagtgttctcttCtcctccagagttcaggaaga							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:15524786_15524788TCTC>T	uc003nbm.3	-	8	969_971	c.780_782GAGA>A	c.(778-783)ggagaa>ggAa	p.E262del	DTNBP1_uc003nbl.3_In_Frame_Del_p.E181del|DTNBP1_uc010jph.3_In_Frame_Del_p.E249del|DTNBP1_uc003nbp.3_In_Frame_Del_p.E262del	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	262	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding	p.G260delG(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			AGTGTTCTCTTCTCCTCCAGAGT	0.547									Hermansky-Pudlak syndrome				-	15524789	CTC	-	15524787	7	5	12	1	0	1	0	1	0	0	0	0	4790	922	32	0	383	0	DTNBP1	6	15524787	In_Frame_Del	DEL	CTC	TCGA-BR-4257-01A-01D-1126-08	4358	15524787	155590280	447	10455											
NUP153	9972	broad.mit.edu	37	chr6	17629339	17629339	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttagcaggagcaggggtggAgttaataacacctgtaccaa	13	7	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:17629339A>C	uc003ncd.1	-	18	3291	c.3091T>G	c.(3091-3093)TCC>GCC	p.S1031A	NUP153_uc011dje.1_Missense_Mutation_p.S1062A|NUP153_uc010jpl.1_Missense_Mutation_p.S989A	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	1031					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GCAGGGGTGGAGTTAATAACA	0.448													C	17629339	A	C	17629339	3	2	12	1	0	0	0	0	1	0	0	0	10755	304	11	5	1356	5	NUP153	6	17629339	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2104552	17629339	153485728	448	10456											
MBOAT1	154141	broad.mit.edu	37	chr6	20144534	20144535	+	Frame_Shift_Ins	INS	-	-	A													taagatatcccattgctacaINSaaaaaggaatatctgaaagc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:20144533_20144534C>CA	uc003ncx.1	-	3	541_542	c.336_337G>TG	c.(334-339)tttgtafs	p.F112fs	MBOAT1_uc011dji.1_5'UTR	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 1 (MBOAT1), mRNA.	112					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			CCCATTGCTACAAAAAAGGAAT	0.351													A	20144535	-	A	20144534	7	5	12	1	0	1	1	0	0	0	0	0	9356	127	5	0	1191	0	MBOAT1	6	20144534	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	2515195	20144534	150970533	449	10457											
BTN2A2	10385	broad.mit.edu	37	chr6	26384103	26384103	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccagcctccctcctcctcctCctgctcctcctccttctcag	3	24	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:26384103C>G	uc003nhq.2	+	2	140	c.54C>G	c.(52-54)CTC>CTG	p.L18L	BTN2A2_uc011dkf.1_Silent_p.L18L|BTN2A2_uc011dkg.1_Silent_p.L18L|BTN2A2_uc003nhr.2_Silent_p.L18L|BTN2A2_uc011dkh.1_Silent_p.L18L|BTN2A2_uc003nhs.2_Silent_p.L18L|BTN2A2_uc003nht.2_Silent_p.L18L	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	18					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						tcctcctcctcctgctcctcc	0.488													G	26384103	C	G	26384103	2	3	12	1	0	0	0	0	0	0	0	1	1561	842	30	5		5	BTN2A2	6	26384103	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	6239569	26384103	144730964	450	10458											
BTN3A3	10384	broad.mit.edu	37	chr6	26452045	26452045	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttactgtgtccttggctgTgaaaacttcacatcagggag	11	9	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:26452045T>C	uc003nhz.2	+	11	1341	c.1161T>C	c.(1159-1161)TGT>TGC	p.C387C	BTN3A3_uc003nia.2_Silent_p.C345C|BTN3A3_uc011dkn.1_Silent_p.C338C	NM_006994	NP_008925	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3 isoform a	387	B30.2/SPRY.|Cytoplasmic (Potential).					integral to membrane					0						TCCTTGGCTGTGAAAACTTCA	0.502													C	26452045	T	C	26452045	2	2	12	1	0	0	0	0	0	0	0	1	1564	1702	59	3		3	BTN3A3	6	26452045	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	67942	26452045	144663022	451	10459											
HLA-G	3135	broad.mit.edu	37	chr6	29797196	29797196	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgactcttcctttcagaCccccccaagacacacgtgac	5	17	3	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:29797196C>T	uc003nnw.2	+	5	799	c.621C>T	c.(619-621)GAC>GAT	p.D207D	HLA-G_uc011dmb.1_Silent_p.D179D|HLA-G_uc003raj.3_Silent_p.D212D|HLA-G_uc003nnz.3_Silent_p.N115N|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	207	Extracellular (Potential).|Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			ovary(3)|central_nervous_system(1)	4						TCCTTTCAGACCCCCCCAAGA	0.537													T	29797196	C	T	29797196	2	4	12	1	0	0	0	0	0	0	0	1	7212	521	18	4		4	HLA-G	6	29797196	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3345151	29797196	141317871	452	10460											
HLA-A	3105	broad.mit.edu	37	chr6	29911900	29911900	+	Splice_Site	DEL	C	C	-													ttctgactcttcccgtcagaCccccccaagacacatatgac					rs75368153		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:29911899_29911899AC>A	uc003nol.3	+	4	704	c.620_splice	c.e4-1	p.D207_splice	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_5'Flank|HLA-A_uc021ytz.1_Splice_Site_p.D207_splice|HLA-A_uc010jrq.3_Splice_Site_p.D86_splice|HLA-A_uc003nok.3_Splice_Site_p.D86_splice|HLA-A_uc010klp.2_Splice_Site_p.D179_splice|HLA-A_uc011dmc.2_Splice_Site_p.D86_splice|HLA-A_uc011dmd.2_Splice_Site_p.D86_splice|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	207	Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TTCCCGTCAGACCCCCCCAAG	0.577									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			-	29911900	C	-	29911900	8	5	12	1	0	1	0	1	0	0	1	0	7195	521	18	0	635	0	HLA-A	6	29911900	Splice_Site	DEL	C	TCGA-BR-4257-01A-01D-1126-08	114704	29911900	141203167	453	10461											
TRIM26	7726	broad.mit.edu	37	chr6	30154088	30154088	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcctcctcttcctcctcCtcctcttctccctcttcctc	2	24	4	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:30154088C>T	uc003npr.2	-	9	1394	c.1185G>A	c.(1183-1185)GAG>GAA	p.E395E	TRIM26_uc003nps.2_Silent_p.E395E|TRIM26_uc010jry.2_Silent_p.E125E|TRIM26_uc003npt.2_Silent_p.E395E	NM_003449	NP_003440	Q12899	TRI26_HUMAN	tripartite motif-containing 26	395	B30.2/SPRY.|Poly-Glu.						DNA binding|zinc ion binding			ovary(2)|lung(1)	3						cttcctcctcctcctcttctc	0.338													T	30154088	C	T	30154088	2	4	12	1	0	0	0	0	0	0	0	1	16497	680	24	4		4	TRIM26	6	30154088	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	242188	30154088	140960979	454	10462											
PPP1R10	5514	broad.mit.edu	37	chr6	30574361	30574361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttcacctctgtcaaaggtCgctcaggaagggtagttcga	11	11	4	0	rs16897725		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:30574361C>T	uc003nqn.1	-	8	1070	c.518G>A	c.(517-519)CGA>CAA	p.R173Q	PPP1R10_uc010jsc.1_5'UTR	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	173	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						TGTCAAAGGTCGCTCAGGAAG	0.473													T	30574361	C	T	30574361	3	4	12	1	0	0	0	0	1	0	0	0	12352	884	31	1	2356	1	PPP1R10	6	30574361	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	420273	30574361	140540706	455	10463											
DHX16	8449	broad.mit.edu	37	chr6	30632714	30632714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggaggctgcggcggacgGcctggatggactctttctgc	17	12	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:30632714G>A	uc003nqz.2	-	7	1393	c.1181C>T	c.(1180-1182)GCC>GTC	p.A394V	DHX16_uc003nqy.2_5'Flank|DHX16_uc011dmo.1_Missense_Mutation_p.A334V	NM_003587	NP_003578	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	394					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(2)|kidney(2)	4						GCGGCGGACGGCCTGGATGGA	0.572													A	30632714	G	A	30632714	3	1	12	1	0	0	0	0	1	0	0	0	4502	1203	42	2	2000	2	DHX16	6	30632714	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	58353	30632714	140482353	456	10464											
MDC1	9656	broad.mit.edu	37	chr6	30672220	30672220	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctggtttctggaggtggaAggctgaagctcaggggctat	17	6	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:30672220A>G	uc003nrg.3	-	10	5180	c.4740T>C	c.(4738-4740)CCT>CCC	p.P1580P	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Silent_p.P1187P	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1580	Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						TGGAGGTGGAAGGCTGAAGCT	0.572								Other_conserved_DNA_damage_response_genes					G	30672220	A	G	30672220	2	3	12	1	0	0	0	0	0	0	0	1	9403	59	3	3		3	MDC1	6	30672220	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	39506	30672220	140442847	457	10465											
SKIV2L	6499	broad.mit.edu	37	chr6	31931826	31931826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttgacctcaccaccagttCggagaagagcgagatccacc	9	15	1	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:31931826C>T	uc003nyn.1	+	16	2173	c.1784C>T	c.(1783-1785)TCG>TTG	p.S595L	SKIV2L_uc011dou.1_Missense_Mutation_p.S437L|SKIV2L_uc011dov.1_Missense_Mutation_p.S402L	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	595	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						ACCACCAGTTCGGAGAAGAGC	0.582													T	31931826	C	T	31931826	3	4	12	1	0	0	0	0	1	0	0	0	14359	893	31	1	1846	1	SKIV2L	6	31931826	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1259606	31931826	139183241	458	10466											
RXRB	6257	broad.mit.edu	37	chr6	33164323	33164323	+	Frame_Shift_Del	DEL	C	C	-													caggcatctcctcgggggctCccccagccccctccccatcc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:33164322_33164322TC>T	uc003odb.3	-	4	1061	c.882_882GA>A	c.(880-882)ggafs	p.G294fs	RXRB_uc003odc.3_Frame_Shift_Del_p.G294fs|RXRB_uc011dqr.2_Frame_Shift_Del_p.G104fs|RXRB_uc011dqs.1_Frame_Shift_Del_p.G177fs|RXRB_uc003ode.1_Frame_Shift_Del_p.G158fs|RXRB_uc011dqt.1_Frame_Shift_Del_p.G294fs|RXRB_uc011dqu.1_Frame_Shift_Del_p.G198fs	NM_021976	NP_068811	P28702	RXRB_HUMAN	Homo sapiens retinoid X receptor, beta (RXRB), mRNA.	294	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCTCGGGGGCTCCCCCAGCCC	0.632													-	33164323	C	-	33164323	7	5	12	1	0	1	0	1	0	0	0	0	13764	855	30	0	744	0	RXRB	6	33164323	Frame_Shift_Del	DEL	C	TCGA-BR-4257-01A-01D-1126-08	1232497	33164323	137950744	459	10467											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411085	33411085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagacggtgtccctgcccAgcaactgcgaatccccctct	8	18	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:33411085A>G	uc011dri.1	+	15	2951	c.2756A>G	c.(2755-2757)CAG>CGG	p.Q919R	SYNGAP1_uc010juy.2_Missense_Mutation_p.Q890R|SYNGAP1_uc010juz.2_Missense_Mutation_p.Q631R	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	919					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						GTCCCTGCCCAGCAACTGCGA	0.682													G	33411085	A	G	33411085	3	3	12	1	0	0	0	0	1	0	0	0	15444	188	7	3	2814	3	SYNGAP1	6	33411085	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	246762	33411085	137703982	460	10468											
GRM4	2914	broad.mit.edu	37	chr6	34008491	34008491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgcaccttcccctcctgCtcataagctgaatcctgccc	5	18	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:34008491C>T	uc003oir.3	-	6	1373	c.1203G>A	c.(1201-1203)GAG>GAA	p.E401E	GRM4_uc011dsn.1_Silent_p.E354E|GRM4_uc010jvh.2_Silent_p.E401E|GRM4_uc010jvi.2_Silent_p.E93E|GRM4_uc003oio.2_Silent_p.E93E|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.E261E|GRM4_uc003oiq.2_Silent_p.E268E|GRM4_uc011dsm.1_Silent_p.E232E	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	401	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	TCCCCTCCTGCTCATAAGCTG	0.612													T	34008491	C	T	34008491	2	4	12	1	0	0	0	0	0	0	0	1	6799	796	28	2		2	GRM4	6	34008491	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	597406	34008491	137106576	461	10469											
ANKS1A	23294	broad.mit.edu	37	chr6	34937854	34937854	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgactcaaaaggctgctacCctctgcatttggcagcctgg	10	13	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:34937854C>A	uc003ojx.3	+	3	488	c.346C>A	c.(346-348)CCT>ACT	p.P116T	ANKS1A_uc011dss.1_Missense_Mutation_p.P116T|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR|ANKS1A_uc010jvq.1_RNA|ANKS1A_uc010jvr.1_5'Flank	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	116	ANK 2.					cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4						AGGCTGCTACCCTCTGCATTT	0.512													A	34937854	C	A	34937854	3	1	12	1	0	0	0	0	1	0	0	0	688	623	22	5	356	5	ANKS1A	6	34937854	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	929363	34937854	136177213	462	10470											
ZNF76	7629	broad.mit.edu	37	chr6	35260699	35260699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccgccacccaaacgacccCggatagcttacctttcggag	9	16	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:35260699C>T	uc003oki.1	+	11	1412	c.1207C>T	c.(1207-1209)CGG>TGG	p.R403W	ZNF76_uc003okj.1_Missense_Mutation_p.R403W	NM_003427	NP_003418	P36508	ZNF76_HUMAN	zinc finger protein 76 (expressed in testis)	403					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CAAACGACCCCGGATAGCTTA	0.612													T	35260699	C	T	35260699	3	4	12	1	0	0	0	0	1	0	0	0	18132	643	23	1	1245	1	ZNF76	6	35260699	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	322845	35260699	135854368	463	10471											
TULP1	7287	broad.mit.edu	37	chr6	35478786	35478786	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctcttcctcctcctcCtctgcaggtagaaactcttc	4	18	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:35478786C>A	uc003okv.3	-	5	363	c.351G>T	c.(349-351)GAG>GAT	p.E117D	TULP1_uc003okw.3_Missense_Mutation_p.E64D	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	117	Poly-Glu.				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			ovary(2)|central_nervous_system(1)	3						cctcctcctcctcTGCAGGTA	0.383													A	35478786	C	A	35478786	3	1	12	1	0	0	0	0	1	0	0	0	16770	695	24	5	1321	5	TULP1	6	35478786	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	218087	35478786	135636281	464	10472											
PI16	221476	broad.mit.edu	37	chr6	36930862	36930862	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctttcttggtaacagaggtCtcaggctccctggcaaccaa	10	12	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:36930862C>A	uc003ona.2	+	5	1072	c.744C>A	c.(742-744)GTC>GTA	p.V248V	PI16_uc003omz.1_Intron|PI16_uc003onb.2_Intron|PI16_uc011dts.1_Silent_p.V19V	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN	protease inhibitor 16 precursor	248	Extracellular (Potential).					extracellular region|integral to membrane	peptidase inhibitor activity				0						TAACAGAGGTCTCAGGCTCCC	0.577													A	36930862	C	A	36930862	2	1	12	1	0	0	0	0	0	0	0	1	11869	900	32	5		5	PI16	6	36930862	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1452076	36930862	134184205	465	10473											
FTSJD2	23070	broad.mit.edu	37	chr6	37430630	37430630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtgcaagggcctgaagGtgggcatagatgatgttcgg	18	5	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:37430630G>A	uc003ons.2	+	13	1604	c.1351G>A	c.(1351-1353)GTG>ATG	p.V451M		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	FtsJ methyltransferase domain containing 2	451					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GGGCCTGAAGGTGGGCATAGA	0.527													A	37430630	G	A	37430630	3	1	12	1	0	0	0	0	1	0	0	0	6091	1261	44	4	1397	4	FTSJD2	6	37430630	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	499768	37430630	133684437	466	10474											
BTBD9	114781	broad.mit.edu	37	chr6	38560444	38560444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagacagcagtcctgaaGgcctcacaacattcagaagc	10	12	2	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:38560444G>A	uc003ooa.3	-	5	1298	c.722C>T	c.(721-723)CCT>CTT	p.P241L	BTBD9_uc003ony.3_Missense_Mutation_p.P173L|BTBD9_uc010jwv.2_Missense_Mutation_p.P173L|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.P241L	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9 isoform a	241					cell adhesion						0						CAGTCCTGAAGGCCTCACAAC	0.478													A	38560444	G	A	38560444	3	1	12	1	0	0	0	0	1	0	0	0	1548	1000	35	4	1239	4	BTBD9	6	38560444	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1129814	38560444	132554623	467	10475											
DNAH8	1769	broad.mit.edu	37	chr6	38863896	38863896	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgatgcagcgtcgtgTattcttcctgaaccatactt	9	11	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:38863896T>C	uc003ooe.1	+	58	8784	c.8184T>C	c.(8182-8184)TGT>TGC	p.C2728C		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CAGCGTCGTGTATTCTTCCTG	0.398													C	38863896	T	C	38863896	2	2	12	1	0	0	0	0	0	0	0	1	4607	1644	57	3		3	DNAH8	6	38863896	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	303452	38863896	132251171	468	10476											
LRFN2	57497	broad.mit.edu	37	chr6	40399588	40399588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacaagcacagcccgttccGgggggcttttgggaggctct	14	12	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:40399588G>A	uc003oph.1	-	2	1730	c.1265C>T	c.(1264-1266)CCG>CTG	p.P422L		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	422	Fibronectin type-III.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCCCGTTCCGGGGGGCTTTT	0.642													A	40399588	G	A	40399588	3	1	12	1	0	0	0	0	1	0	0	0	8938	1116	39	1	1112	1	LRFN2	6	40399588	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1535692	40399588	130715479	469	10477											
CNPY3	10695	broad.mit.edu	37	chr6	42903362	42903362	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catttgcaagaggctcctggAttatagcctgcacaaggaga	11	9	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:42903362A>C	uc003ota.3	+	3	775	c.326A>C	c.(325-327)GAT>GCT	p.D109A	CNPY3_uc003osy.2_RNA|CNPY3_uc003osz.2_Missense_Mutation_p.D109A|CNPY3_uc003otc.3_5'UTR|CNPY3_uc003otb.3_Missense_Mutation_p.D20A	NM_006586	NP_006577	Q9BT09	CNPY3_HUMAN	trinucleotide repeat containing 5 precursor	109	Saposin B-type.				innate immune response	endoplasmic reticulum				ovary(1)	1	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			AGGCTCCTGGATTATAGCCTG	0.542													C	42903362	A	C	42903362	3	2	12	1	0	0	0	0	1	0	0	0	3629	333	12	5	336	5	CNPY3	6	42903362	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2503774	42903362	128211705	470	10478											
PEX6	5190	broad.mit.edu	37	chr6	42936059	42936059	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcctcattgaggaggaggtGacgcagcacagccatcacac	12	12	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:42936059G>A	uc003otf.2	-	7	1750	c.1657C>T	c.(1657-1659)CAC>TAC	p.H553Y	PEX6_uc010jya.2_RNA	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	553					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			AGGAGGAGGTGACGCAGCACA	0.542													A	42936059	G	A	42936059	3	1	12	1	0	0	0	0	1	0	0	0	11750	1290	45	4	1329	4	PEX6	6	42936059	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	32697	42936059	128179008	471	10479											
MRPL2	51069	broad.mit.edu	37	chr6	43023827	43023827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccatctctcacctgccattCggcctatgtggttagagttc	9	13	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:43023827C>T	uc003ots.1	-	4	635	c.512G>A	c.(511-513)CGA>CAA	p.R171Q	CUL7_uc011dvb.1_5'Flank|CUL7_uc003otq.2_5'Flank|CUL7_uc010jyh.2_5'Flank|KLC4_uc003otr.1_Intron|MRPL2_uc011dvc.1_Missense_Mutation_p.R171Q	NM_015950	NP_057034	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2 precursor	171					translation	mitochondrion|ribosome	structural constituent of ribosome				0		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		ACCTGCCATTCGGCCTATGTG	0.517													T	43023827	C	T	43023827	3	4	12	1	0	0	0	0	1	0	0	0	9785	884	31	1	421	1	MRPL2	6	43023827	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	87768	43023827	128091240	472	10480											
TMEM63B	55362	broad.mit.edu	37	chr6	44120388	44120388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggatgatgtgcgtcttcaCggtggtcatgacctacagta	12	9	3	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:44120388C>T	uc003owr.2	+	20	1959	c.1895C>T	c.(1894-1896)ACG>ATG	p.T632M	TMEM63B_uc003ows.2_Missense_Mutation_p.T535M|TMEM63B_uc010jyz.2_RNA	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	632	Helical; (Potential).					integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TGCGTCTTCACGGTGGTCATG	0.662											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	44120388	C	T	44120388	3	4	12	1	0	0	0	0	1	0	0	0	16188	536	19	1	1969	1	TMEM63B	6	44120388	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1096561	44120388	126994679	473	10481											
TDRD6	221400	broad.mit.edu	37	chr6	46661387	46661387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgaggtgccgctttctcCtgatgatgaatcaaaagaat	9	8	2	5			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:46661387C>T	uc003oyj.2	+	1	5522	c.5522C>T	c.(5521-5523)CCT>CTT	p.P1841L	TDRD6_uc010jze.2_Missense_Mutation_p.P1835L	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1841					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			CCGCTTTCTCCTGATGATGAA	0.403													T	46661387	C	T	46661387	3	4	12	1	0	0	0	0	1	0	0	0	15731	681	24	4	5524	4	TDRD6	6	46661387	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2540999	46661387	124453680	474	10482											
CD2AP	23607	broad.mit.edu	37	chr6	47471097	47471097	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagaaatcatcaggaatgTgaaaaagctacaggaggaag	13	4	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:47471097T>C	uc003oyw.2	+	2	542	c.86T>C	c.(85-87)GTG>GCG	p.V29A		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	29	Interaction with ANLN and localization to the midbody.|SH3 1; truncated.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ATCAGGAATGTGAAAAAGCTA	0.368													C	47471097	T	C	47471097	3	2	12	1	0	0	0	0	1	0	0	0	2994	1696	59	3	92	3	CD2AP	6	47471097	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	809710	47471097	123643970	475	10483											
OPN5	221391	broad.mit.edu	37	chr6	47759639	47759639	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggctggatttttctttggcTgtggaagccttatcaccatg	12	8	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:47759639T>C	uc003ozc.2	+	3	357	c.352T>C	c.(352-354)TGT>CGT	p.C118R	OPN5_uc003ozd.2_5'UTR	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	opsin 5 isoform 1	118	Helical; Name=3; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			ovary(1)	1						TTTCTTTGGCTGTGGAAGCCT	0.483													C	47759639	T	C	47759639	3	2	12	1	0	0	0	0	1	0	0	0	10883	1580	55	3	362	3	OPN5	6	47759639	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	288542	47759639	123355428	476	10484											
PGK2	5232	broad.mit.edu	37	chr6	49754751	49754751	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttggctccattgtccagGcagtacttgatgcttgggat	12	10	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:49754751G>A	uc003ozu.2	-	1	257	c.150C>T	c.(148-150)TGC>TGT	p.C50C		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	50					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)					CATTGTCCAGGCAGTACTTGA	0.468													A	49754751	G	A	49754751	2	1	12	1	0	0	0	0	0	0	0	1	11791	1195	42	2		2	PGK2	6	49754751	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1995112	49754751	121360316	477	10485											
PKHD1	5314	broad.mit.edu	37	chr6	51882291	51882291	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgggaactttcctcgcaAatgtagaggtaaggccacga	11	9	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:51882291A>G	uc003pah.1	-	34	5793	c.5517T>C	c.(5515-5517)ATT>ATC	p.I1839I	PKHD1_uc003pai.2_Silent_p.I1839I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1839	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TTTCCTCGCAAATGTAGAGGT	0.493													G	51882291	A	G	51882291	2	3	12	1	0	0	0	0	0	0	0	1	11971	10	1	3		3	PKHD1	6	51882291	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2127540	51882291	119232776	478	10486											
LRRC1	55227	broad.mit.edu	37	chr6	53706924	53706924	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaatttttccagctagTcaaattacgaaagcttggac	7	9	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:53706924T>C	uc003pcd.1	+	2	453	c.176T>C	c.(175-177)GTC>GCC	p.V59A		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	59						cytoplasm|membrane				ovary(1)	1	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TTCCAGCTAGTCAAATTACGA	0.358													C	53706924	T	C	53706924	3	2	12	1	0	0	0	0	1	0	0	0	8966	1667	58	3	182	3	LRRC1	6	53706924	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1824633	53706924	117408143	479	10487											
TINAG	27283	broad.mit.edu	37	chr6	54212213	54212213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctaagggtcgatacacggCcaatctatcccctcagaatt	8	12	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:54212213C>T	uc003pcj.2	+	6	943	c.797C>T	c.(796-798)GCC>GTC	p.A266V	TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	266					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CGATACACGGCCAATCTATCC	0.423													T	54212213	C	T	54212213	3	4	12	1	0	0	0	0	1	0	0	0	15918	739	26	2	819	2	TINAG	6	54212213	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	505289	54212213	116902854	480	10488											
BAI3	577	broad.mit.edu	37	chr6	70098693	70098693	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcttagacacagaggcaaaGgatgctttggaactgaggcc	13	8	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:70098693G>T	uc003pev.3	+	32	4927	c.4479G>T	c.(4477-4479)AAG>AAT	p.K1493N	BAI3_uc010kak.2_Missense_Mutation_p.K1493N|BAI3_uc011dxx.1_Missense_Mutation_p.K699N	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1493	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				CAGAGGCAAAGGATGCTTTGG	0.443													T	70098693	G	T	70098693	3	4	12	1	0	0	0	0	1	0	0	0	1300	991	35	5	4597	5	BAI3	6	70098693	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	15886480	70098693	101016374	481	10489											
LMBRD1	55788	broad.mit.edu	37	chr6	70423622	70423622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctctctcttcttaagtgttCgtaacctttcttcaaattgt	4	10	5	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:70423622C>T	uc003pfa.2	-	9	945	c.830G>A	c.(829-831)CGA>CAA	p.R277Q	LMBRD1_uc003pey.2_Missense_Mutation_p.R73Q|LMBRD1_uc003pez.2_Missense_Mutation_p.R204Q|LMBRD1_uc010kal.2_Missense_Mutation_p.R204Q|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	277	Cytoplasmic (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1						CTTAAGTGTTCGTAACCTTTC	0.393													T	70423622	C	T	70423622	3	4	12	1	0	0	0	0	1	0	0	0	8842	884	31	1	824	1	LMBRD1	6	70423622	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	324929	70423622	100691445	482	10490											
OGFRL1	79627	broad.mit.edu	37	chr6	72011426	72011426	+	Frame_Shift_Del	DEL	A	A	-													acagtcaaacttctatgcacAaaaaagccaaggactccaaa							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:72011425_72011425CA>C	uc003pfx.1	+	6	1192	c.1029_1029CA>C	c.(1027-1029)cacfs	p.H343fs		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	Homo sapiens opioid growth factor receptor-like 1 (OGFRL1), mRNA.	343						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						CTTCTATGCACAAAAAAGCCA	0.453													-	72011426	A	-	72011426	7	5	12	1	0	1	0	1	0	0	0	0	10844	131	5	0	1056	0	OGFRL1	6	72011426	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	1587804	72011426	99103641	483	10491											
RIMS1	22999	broad.mit.edu	37	chr6	72889303	72889303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgggtatgcaatttatgtcGaaagcaacaagaaatcttaa	9	5	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:72889303G>A	uc003pga.2	+	5	574	c.497G>A	c.(496-498)CGA>CAA	p.R166Q	RIMS1_uc011dyb.1_5'Flank|RIMS1_uc003pgc.2_5'Flank|RIMS1_uc003pgb.3_5'Flank	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	166	RabBD.|FYVE-type.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AATTTATGTCGAAAGCAACAA	0.363													A	72889303	G	A	72889303	3	1	12	1	0	0	0	0	1	0	0	0	13367	1058	37	1	515	1	RIMS1	6	72889303	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	877877	72889303	98225764	484	10492											
KCNQ5	56479	broad.mit.edu	37	chr6	73902309	73902309	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgatcaaattcttggaaaAgggcaaatcacatcagataa	8	6	4	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:73902309A>G	uc003pgk.2	+	13	2078	c.1731A>G	c.(1729-1731)AAA>AAG	p.K577K	KCNQ5_uc011dyh.1_Silent_p.K596K|KCNQ5_uc011dyi.1_Silent_p.K587K|KCNQ5_uc010kat.2_Silent_p.K568K|KCNQ5_uc011dyj.1_Silent_p.K467K|KCNQ5_uc011dyk.1_Silent_p.K327K	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	577					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTCTTGGAAAAGGGCAAATCA	0.433													G	73902309	A	G	73902309	2	3	12	1	0	0	0	0	0	0	0	1	8086	69	3	3		3	KCNQ5	6	73902309	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1013006	73902309	97212758	485	10493											
KCNQ5	56479	broad.mit.edu	37	chr6	73904255	73904255	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggctctgcctcagccctCgctttggcttcattccagat	8	14	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:73904255C>T	uc003pgk.2	+	14	2264	c.1917C>T	c.(1915-1917)CTC>CTT	p.L639L	KCNQ5_uc011dyh.1_Silent_p.L658L|KCNQ5_uc011dyi.1_Silent_p.L649L|KCNQ5_uc010kat.2_Silent_p.L630L|KCNQ5_uc011dyj.1_Silent_p.L529L|KCNQ5_uc011dyk.1_Silent_p.L389L	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	639					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CCTCAGCCCTCGCTTTGGCTT	0.473													T	73904255	C	T	73904255	2	4	12	1	0	0	0	0	0	0	0	1	8086	871	31	1		1	KCNQ5	6	73904255	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1946	73904255	97210812	486	10494											
C6orf150	115004	broad.mit.edu	37	chr6	74150030	74150030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaagccagttttgaatgCgcaggccttcttgggtgcta	12	9	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:74150030C>T	uc003pgx.1	-	3	1155	c.1016G>A	c.(1015-1017)CGC>CAC	p.R339H		NM_138441	NP_612450	Q8N884	M21D1_HUMAN	hypothetical protein LOC115004	339											0						GTTTTGAATGCGCAGGCCTTC	0.428													T	74150030	C	T	74150030	3	4	12	1	0	0	0	0	1	0	0	0	2337	768	27	1	564	1	C6orf150	6	74150030	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	245775	74150030	96965037	487	10495											
SLC35A1	10559	broad.mit.edu	37	chr6	88187198	88187198	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagaactctacttttcaacCacagccgtgtgtatcacaga	6	11	3	2	rs3173204		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:88187198C>A	uc011dzj.1	+	2	214	c.135C>A	c.(133-135)ACC>ACA	p.T45T	SLC35A1_uc003plx.2_RNA|SLC35A1_uc010kbw.2_5'UTR|SLC35A1_uc003plz.2_RNA|SLC35A1_uc011dzi.1_5'UTR|SLC35A1_uc003ply.2_RNA|SLC35A1_uc010kbx.2_Silent_p.T45T|SLC35A1_uc010kby.2_RNA|C6orf165_uc010kbv.1_RNA	NM_006416	NP_006407	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid	45	Lumenal (Potential).				carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity				0		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		ACTTTTCAACCACAGCCGTGT	0.358													A	88187198	C	A	88187198	2	1	12	1	0	0	0	0	0	0	0	1	14570	581	21	5		5	SLC35A1	6	88187198	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	14037168	88187198	82927869	488	10496											
MDN1	23195	broad.mit.edu	37	chr6	90354754	90354754	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgaactgggattgtccaAtacaacaaagatgacaaaga	9	8	0	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:90354754A>G	uc003pnn.1	-	101	16698	c.16582T>C	c.(16582-16584)TTG>CTG	p.L5528L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	5528	VWFA.				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGATTGTCCAATACAACAAAG	0.478													G	90354754	A	G	90354754	2	3	12	1	0	0	0	0	0	0	0	1	9415	98	4	3		3	MDN1	6	90354754	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2167556	90354754	80760313	489	10497											
MDN1	23195	broad.mit.edu	37	chr6	90513053	90513053	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattgctactcacgggaggAcatcaggatggttaccaatg	11	8	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:90513053A>G	uc003pnn.1	-	2	439	c.323T>C	c.(322-324)GTC>GCC	p.V108A	MDN1_uc003pnp.1_Missense_Mutation_p.V108A	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	108					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCACGGGAGGACATCAGGATG	0.463													G	90513053	A	G	90513053	3	3	12	1	0	0	0	0	1	0	0	0	9415	275	10	3	16871	3	MDN1	6	90513053	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	158299	90513053	80602014	490	10498											
C6orf168	84553	broad.mit.edu	37	chr6	99739692	99739692	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggccccatgatgtacttcttAtcacctgcagtaaataaagc	7	11	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:99739692A>T	uc003ppj.3	-	5	1111	c.828T>A	c.(826-828)GAT>GAA	p.D276E	C6orf168_uc003ppi.3_5'UTR	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	hypothetical protein LOC84553	276										ovary(2)|central_nervous_system(1)	3		all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.073)		TGTACTTCTTATCACCTGCAG	0.478													T	99739692	A	T	99739692	3	4	12	1	0	0	0	0	1	0	0	0	2343	446	16	5	409	5	C6orf168	6	99739692	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	9226639	99739692	71375375	491	10499											
SIM1	6492	broad.mit.edu	37	chr6	100896434	100896434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtagcttgatctccgtgaCggcgctgggaggcagcgagt	17	9	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:100896434C>T	uc003pqj.3	-	6	871	c.664G>A	c.(664-666)GTC>ATC	p.V222I	SIM1_uc010kcu.2_Missense_Mutation_p.V222I	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	222	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ATCTCCGTGACGGCGCTGGGA	0.602													T	100896434	C	T	100896434	3	4	12	1	0	0	0	0	1	0	0	0	14323	536	19	1	1660	1	SIM1	6	100896434	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1156742	100896434	70218633	492	10500											
BEND3	57673	broad.mit.edu	37	chr6	107391922	107391922	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgttgctggcgtttgccTtctcaaagagctcgtacacg	12	11	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:107391922T>G	uc003prs.2	-	5	1123	c.473A>C	c.(472-474)AAG>ACG	p.K158T		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	158										ovary(3)	3						GGCGTTTGCCTTCTCAAAGAG	0.577													G	107391922	T	G	107391922	3	3	12	1	0	0	0	0	1	0	0	0	1399	1609	56	5	2017	5	BEND3	6	107391922	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	6495488	107391922	63723145	493	10501											
RPF2	84154	broad.mit.edu	37	chr6	111320954	111320954	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggatatgattgaattAggtattgagaattttgtctc	11	3	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:111320954A>G	uc003pun.2	+	6	376	c.357A>G	c.(355-357)TTA>TTG	p.L119L	RPF2_uc003puo.2_Silent_p.L56L	NM_032194	NP_115570	Q9H7B2	RPF2_HUMAN	brix domain containing 1	119	Brix.					nucleolus	protein binding			ovary(2)	2						TGATTGAATTAGGTATTGAGA	0.338													G	111320954	A	G	111320954	2	3	12	1	0	0	0	0	0	0	0	1	13547	417	15	3		3	RPF2	6	111320954	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	3929032	111320954	59794113	494	10502											
REV3L	5980	broad.mit.edu	37	chr6	111654524	111654524	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cactaggtgtcacaggaataTagttcattggtttagcaata	9	6	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:111654524T>A	uc003puy.3	-	23	8050	c.7727A>T	c.(7726-7728)TAT>TTT	p.Y2576F	REV3L_uc003pux.3_Missense_Mutation_p.Y2498F|REV3L_uc003puz.3_Missense_Mutation_p.Y2498F|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2576					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CACAGGAATATAGTTCATTGG	0.438								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	111654524	T	A	111654524	3	1	12	1	0	0	0	0	1	0	0	0	13240	1406	49	5	1705	5	REV3L	6	111654524	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	333570	111654524	59460543	495	10503											
REV3L	5980	broad.mit.edu	37	chr6	111695100	111695100	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttttactctttcaggtttAaaatttgacatatctaaaat	5	5	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:111695100A>G	uc003puy.3	-	13	4781	c.4458T>C	c.(4456-4458)TTT>TTC	p.F1486F	REV3L_uc003pux.3_Silent_p.F1408F|REV3L_uc003puz.3_Silent_p.F1408F	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1486					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTCAGGTTTAAAATTTGACA	0.353								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					G	111695100	A	G	111695100	2	3	12	1	0	0	0	0	0	0	0	1	13240	359	13	3		3	REV3L	6	111695100	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	40576	111695100	59419967	496	10504											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111912543	111912543	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaagattgggaggcagcatCtgtgcacatgctggatacct	13	8	1	1	rs141106401		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:111912543C>T	uc011ebc.1	-	3	1362	c.747G>A	c.(745-747)CAG>CAA	p.Q249Q	TRAF3IP2_uc003pvg.2_Silent_p.Q249Q|TRAF3IP2_uc003pvf.2_Silent_p.Q249Q|TRAF3IP2_uc010kdw.2_Silent_p.Q249Q|TRAF3IP2_uc010kdx.2_Silent_p.Q249Q	NM_147686	NP_679211	O43734	CIKS_HUMAN	TRAF3 interacting protein 2 isoform 2	258					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				ovary(2)|central_nervous_system(1)	3		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GAGGCAGCATCTGTGCACATG	0.542													T	111912543	C	T	111912543	2	4	12	1	0	0	0	0	0	0	0	1	16438	912	32	4		4	TRAF3IP2	6	111912543	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	217443	111912543	59202524	497	10505											
KPNA5	3841	broad.mit.edu	37	chr6	117037453	117037453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcaaatttatgtagagGcaaaaaccctcctccaaact	4	13	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:117037453G>A	uc003pxh.2	+	8	859	c.728G>A	c.(727-729)GGC>GAC	p.G243D		NM_002269	NP_002260	O15131	IMA5_HUMAN	karyopherin alpha 5	240	ARM 4.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(3)|skin(1)	4		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TTATGTAGAGGCAAAAACCCT	0.308													A	117037453	G	A	117037453	3	1	12	1	0	0	0	0	1	0	0	0	8433	1203	42	2	758	2	KPNA5	6	117037453	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	5124910	117037453	54077614	498	10506											
ROS1	6098	broad.mit.edu	37	chr6	117650526	117650526	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagtatgtaattctacatcCattatcttcagctttctccc	3	11	4	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:117650526C>A	uc003pxp.1	-	32	5531	c.5332G>T	c.(5332-5334)GGA>TGA	p.G1778*	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1778	Fibronectin type-III 9.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATTCTACATCCATTATCTTCA	0.323			T	GOPC|ROS1	glioblastoma|NSCLC								A	117650526	C	A	117650526	4	1	12	1	0	0	0	0	0	1	0	0	13531	603	21	5	1759	5	ROS1	6	117650526	Nonsense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	613073	117650526	53464541	499	10507											
DCBLD1	285761	broad.mit.edu	37	chr6	117864339	117864339	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctccttgttgtcctggtGtttgctggaatggggatctt	14	7	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:117864339G>A	uc003pxs.2	+	12	1535	c.1410G>A	c.(1408-1410)GTG>GTA	p.V470V	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Silent_p.V470V|DCBLD1_uc003pxt.1_Silent_p.V125V	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	470	Helical; (Potential).				cell adhesion	integral to membrane				ovary(1)	1		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TTGTCCTGGTGTTTGCTGGAA	0.373													A	117864339	G	A	117864339	2	1	12	1	0	0	0	0	0	0	0	1	4280	1364	48	4		4	DCBLD1	6	117864339	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	213813	117864339	53250728	500	10508											
FAM184A	79632	broad.mit.edu	37	chr6	119281303	119281303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcaaaccactcctggcGctggggatctggagaagcca	14	13	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:119281303G>A	uc003pyj.2	-	18	3736	c.3388C>T	c.(3388-3390)CGC>TGC	p.R1130C	FAM184A_uc003pyk.3_Missense_Mutation_p.R961C|FAM184A_uc003pyl.3_Missense_Mutation_p.R926C|FAM184A_uc003pyi.2_RNA	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	1130										ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						CACTCCTGGCGCTGGGGATCT	0.428													A	119281303	G	A	119281303	3	1	12	1	0	0	0	0	1	0	0	0	5511	1087	38	1	38	1	FAM184A	6	119281303	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1416964	119281303	51833764	501	10509											
CLVS2	134829	broad.mit.edu	37	chr6	123318992	123318992	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctggagctcaatgaaaacCcagacacgctgcaccaggac	10	14	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:123318992C>A	uc003pzi.1	+	2	939	c.70C>A	c.(70-72)CCA>ACA	p.P24T		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	24					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						CAATGAAAACCCAGACACGCT	0.542													A	123318992	C	A	123318992	3	1	12	1	0	0	0	0	1	0	0	0	3572	623	22	5	72	5	CLVS2	6	123318992	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	4037689	123318992	47796075	502	10510											
PTPRK	5796	broad.mit.edu	37	chr6	128388769	128388769	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgattgtcacccacagtgaaCggggcaggctcaggtaggtt	14	10	2	1	rs146089088	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:128388769C>T	uc003qbk.2	-	12	2419	c.2052G>A	c.(2050-2052)CCG>CCA	p.P684P	PTPRK_uc003qbj.2_Silent_p.P684P|PTPRK_uc010kfc.2_Silent_p.P684P|PTPRK_uc011ebu.1_Silent_p.P684P|PTPRK_uc003qbl.1_Silent_p.P554P|PTPRK_uc011ebv.1_Silent_p.P684P	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	684	Extracellular (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCACAGTGAACGGGGCAGGCT	0.547													T	128388769	C	T	128388769	2	4	12	1	0	0	0	0	0	0	0	1	12805	523	19	1		1	PTPRK	6	128388769	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	5069777	128388769	42726298	503	10511											
PTPRK	5796	broad.mit.edu	37	chr6	128561240	128561240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatgcactgaaatgtagcGttttgccctgcattcacctc	8	12	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:128561240G>A	uc003qbk.2	-	5	1000	c.633C>T	c.(631-633)AAC>AAT	p.N211N	PTPRK_uc003qbj.2_Silent_p.N211N|PTPRK_uc010kfc.2_Silent_p.N211N|PTPRK_uc011ebu.1_Silent_p.N211N|PTPRK_uc003qbl.1_Silent_p.N81N|PTPRK_uc011ebv.1_Silent_p.N211N	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	211	Extracellular (Potential).|Ig-like C2-type.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GAAATGTAGCGTTTTGCCCTG	0.428													A	128561240	G	A	128561240	2	1	12	1	0	0	0	0	0	0	0	1	12805	1136	40	1		1	PTPRK	6	128561240	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	172471	128561240	42553827	504	10512											
LAMA2	3908	broad.mit.edu	37	chr6	129775324	129775324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttctggctatagaaatgCgtaaaggcaaagtcagcttc	9	8	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:129775324C>T	uc003qbn.2	+	46	6703	c.6598C>T	c.(6598-6600)CGT>TGT	p.R2200C	LAMA2_uc003qbo.2_Missense_Mutation_p.R2200C	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2200	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TATAGAAATGCGTAAAGGCAA	0.398													T	129775324	C	T	129775324	3	4	12	1	0	0	0	0	1	0	0	0	8606	768	27	1	6784	1	LAMA2	6	129775324	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1214084	129775324	41339743	505	10513											
EPB41L2	2037	broad.mit.edu	37	chr6	131191139	131191139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcacaggctccaccttaCgaatctccccaggaccactc	7	17	2	0	rs150621192	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:131191139C>T	uc003qch.2	-	15	2353	c.2171G>A	c.(2170-2172)CGT>CAT	p.R724H	EPB41L2_uc003qce.1_Missense_Mutation_p.R102H|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_Missense_Mutation_p.R654H|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc010kfl.1_Missense_Mutation_p.R654H|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_Missense_Mutation_p.R121H	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	724					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCCACCTTACGAATCTCCCC	0.517													T	131191139	C	T	131191139	3	4	12	1	0	0	0	0	1	0	0	0	5153	536	19	1	866	1	EPB41L2	6	131191139	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1415815	131191139	39923928	506	10514											
MED23	9439	broad.mit.edu	37	chr6	131944504	131944504	+	Frame_Shift_Del	DEL	C	C	-													aatataccttgtaatccactCccccaattattttccgaacc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:131944503_131944503TC>T	uc003qcs.1	-	4	558	c.384_384GA>A	c.(382-384)ggafs	p.G128fs	MED23_uc003qcq.3_Frame_Shift_Del_p.G128fs|MED23_uc003qct.1_Frame_Shift_Del_p.G128fs|MED23_uc011ecb.1_Non-coding_Transcript	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	128					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TGTAATCCACTCCCCCAATTA	0.368													-	131944504	C	-	131944504	7	5	12	1	0	1	0	1	0	0	0	0	9441	855	30	0	3852	0	MED23	6	131944504	Frame_Shift_Del	DEL	C	TCGA-BR-4257-01A-01D-1126-08	753365	131944504	39170563	507	10515											
CTGF	1490	broad.mit.edu	37	chr6	132270619	132270619	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacagaatttagctcggtAtgtcttcatgctggtgcagc	10	10	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:132270619A>G	uc003qcz.2	-	5	1041	c.835T>C	c.(835-837)TAC>CAC	p.Y279H		NM_001901	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor precursor	279	CTCK.|Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding				0	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		TTAGCTCGGTATGTCTTCATG	0.532													G	132270619	A	G	132270619	3	3	12	1	0	0	0	0	1	0	0	0	4008	449	16	3	218	3	CTGF	6	132270619	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	326115	132270619	38844448	508	10516											
MAP3K5	4217	broad.mit.edu	37	chr6	137018441	137018441	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctactcgctgccgaattctTgccaactcagctgccaattc	6	15	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:137018441T>C	uc003qhc.2	-	5	1252	c.891A>G	c.(889-891)GCA>GCG	p.A297A	MAP3K5_uc011edk.1_Silent_p.A142A|MAP3K5_uc010kgw.1_Silent_p.A297A	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	297					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)|skin(2)|lung(1)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GCCGAATTCTTGCCAACTCAG	0.393													C	137018441	T	C	137018441	2	2	12	1	0	0	0	0	0	0	0	1	9253	1799	63	3		3	MAP3K5	6	137018441	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	4747822	137018441	34096626	509	10517											
HIVEP2	3097	broad.mit.edu	37	chr6	143093783	143093783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctacgctcttctctttcCggcgtttcctgttttcacag	6	16	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:143093783C>T	uc003qjd.2	-	5	2836	c.2093G>A	c.(2092-2094)CGG>CAG	p.R698Q		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	698					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTTCTCTTTCCGGCGTTTCCT	0.493													T	143093783	C	T	143093783	3	4	12	1	0	0	0	0	1	0	0	0	7187	652	23	1	5271	1	HIVEP2	6	143093783	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	6075342	143093783	28021284	510	10518											
UTRN	7402	broad.mit.edu	37	chr6	144724272	144724272	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacagatgaacacaatgaCgtacagaagaaaacctttac	6	10	0	5			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:144724272C>T	uc003qkt.2	+	2	185	c.93C>T	c.(91-93)GAC>GAT	p.D31D	UTRN_uc010khq.1_Silent_p.D31D	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	31	CH 1.|Actin-binding.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACACAATGACGTACAGAAGA	0.368													T	144724272	C	T	144724272	2	4	12	1	0	0	0	0	0	0	0	1	17100	535	19	1		1	UTRN	6	144724272	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1630489	144724272	26390795	511	10519											
UST	10090	broad.mit.edu	37	chr6	149342520	149342520	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaatgaaaacttcctgctCgtggggattcttgaagagtt	12	6	1	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:149342520C>T	uc003qmg.2	+	7	1136	c.840C>T	c.(838-840)CTC>CTT	p.L280L		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	280	Lumenal (Potential).				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACTTCCTGCTCGTGGGGATTC	0.413													T	149342520	C	T	149342520	2	4	12	1	0	0	0	0	0	0	0	1	17090	871	31	1		1	UST	6	149342520	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	4618248	149342520	21772547	512	10520											
RAET1E	135250	broad.mit.edu	37	chr6	150210620	150210620	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttgatcttactggcttcAtgattaattactgtccaggt	7	9	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:150210620A>G	uc003qnl.1	-	3	546	c.486T>C	c.(484-486)CAT>CAC	p.H162H	uc003qni.1_Intron|RAET1E_uc003qnj.2_Silent_p.H162H|RAET1E_uc003qnk.1_Silent_p.H126H|RAET1E_uc010kih.1_RNA	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E precursor	162	Extracellular (Potential).|MHC class I alpha-2 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TACTGGCTTCATGATTAATTA	0.483													G	150210620	A	G	150210620	2	3	12	1	0	0	0	0	0	0	0	1	12999	214	8	3		3	RAET1E	6	150210620	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	868100	150210620	20904447	513	10521											
ESR1	2099	broad.mit.edu	37	chr6	152129084	152129084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccaaagcatctgggatgGccctactgcatcagatccaa	8	13	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:152129084G>A	uc003qom.3	+	3	407	c.37G>A	c.(37-39)GCC>ACC	p.A13T	ESR1_uc010kin.2_Missense_Mutation_p.A13T|ESR1_uc010kio.2_Missense_Mutation_p.A13T|ESR1_uc010kip.2_Missense_Mutation_p.A13T|ESR1_uc003qon.3_Missense_Mutation_p.A13T|ESR1_uc003qoo.3_Missense_Mutation_p.A13T|ESR1_uc010kiq.2_5'UTR|ESR1_uc010kir.2_Missense_Mutation_p.A13T	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	estrogen receptor alpha isoform 4	13	Modulating; mediates interaction with MACROD1.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	ATCTGGGATGGCCCTACTGCA	0.657													A	152129084	G	A	152129084	3	1	12	1	0	0	0	0	1	0	0	0	5256	1203	42	2	39	2	ESR1	6	152129084	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1918464	152129084	18985983	514	10522											
SYNE1	23345	broad.mit.edu	37	chr6	152711422	152711422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggttctgtacctttgagCgtggacggaggagctcatga	14	7	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:152711422C>T	uc010kiw.2	-	53	8772	c.8170G>A	c.(8170-8172)GCT>ACT	p.A2724T	SYNE1_uc003qot.3_Missense_Mutation_p.A2731T|SYNE1_uc003qou.3_Missense_Mutation_p.A2724T|SYNE1_uc010kjb.1_Missense_Mutation_p.A2707T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2724	Cytoplasmic (Potential).|HAT 5.				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)		TACCTTTGAGCGTGGACGGAG	0.463										HNSCC(10;0.0054)			T	152711422	C	T	152711422	3	4	12	1	0	0	0	0	1	0	0	0	15442	768	27	1	18672	1	SYNE1	6	152711422	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	582338	152711422	18403645	515	10523											
IPCEF1	26034	broad.mit.edu	37	chr6	154489165	154489165	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttttagtcgaaggtcgtcGgtccccaagaggagatagac	12	9	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:154489165G>A	uc003qpx.2	-	11	1147	c.991C>T	c.(991-993)CGA>TGA	p.R331*	OPRM1_uc003qpt.1_Intron|IPCEF1_uc003qpv.2_Nonsense_Mutation_p.R202*|IPCEF1_uc003qpw.2_Nonsense_Mutation_p.R332*|IPCEF1_uc010kjh.2_Nonsense_Mutation_p.R332*	NM_015553	NP_056368	Q8WWN9	ICEF1_HUMAN	phosphoinositide-binding protein PIP3-E isoform	331					response to oxidative stress	cytoplasm|plasma membrane	oxygen transporter activity|peroxidase activity				0						GAAGGTCGTCGGTCCCCAAGA	0.368													A	154489165	G	A	154489165	4	1	12	1	0	0	0	0	0	1	0	0	7791	1124	39	1	330	1	IPCEF1	6	154489165	Nonsense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1777743	154489165	16625902	516	10524											
NOX3	50508	broad.mit.edu	37	chr6	155761270	155761270	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagcaattcagtggttgtgTtctaaaaaaaacaacaacaa	6	6	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:155761270T>C	uc003qqm.2	-	6	591	c.488A>G	c.(487-489)AAC>AGC	p.N163S		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	163	Ferric oxidoreductase.|Extracellular (Potential).						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			ovary(1)	1		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AGTGGTTGTGTTCTaaaaaaa	0.323													C	155761270	T	C	155761270	3	2	12	1	0	0	0	0	1	0	0	0	10557	1739	60	3	1250	3	NOX3	6	155761270	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1272105	155761270	15353797	517	10525											
DYNLT1	6993	broad.mit.edu	37	chr6	159062373	159062375	+	In_Frame_Del	DEL	TCA	TCA	-													cttttacaatgttgctcactTcatcaacaacaaaagcagtc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:159062373_159062375delTCA	uc003qrn.1	-	2	45_47	c.45_47delTGA	c.(43-48)GATGAA>GAA	p.D15del		NM_006519	NP_006510	P63172	DYLT1_HUMAN	dynein, light chain, Tctex-type 1	15					cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	cytoplasmic dynein complex|Golgi apparatus|microtubule|spindle	identical protein binding|motor activity				0		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		GTTGCTCACTTCATCAACAACAA	0.286													-	159062375	TCA	-	159062373	7	5	12	1	0	1	0	1	0	0	0	0	4852	1783	62	0	310	0	DYNLT1	6	159062373	In_Frame_Del	DEL	TCA	TCGA-BR-4257-01A-01D-1126-08	3301103	159062373	12052694	518	10526											
T	6862	broad.mit.edu	37	chr6	166580961	166580961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcccacgcgcagttcgCgctctgtggggtcgcccttc	13	17	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:166580961C>T	uc003quu.1	-	2	612	c.119G>A	c.(118-120)CGC>CAC	p.R40H	T_uc003qut.1_Missense_Mutation_p.R40H|T_uc003quv.1_Missense_Mutation_p.R40H	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	40					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GCGCAGTTCGCGCTCTGTGGG	0.652									Chordoma_Familial_Clustering_of				T	166580961	C	T	166580961	3	4	12	1	0	0	0	0	1	0	0	0	15485	768	27	1	1220	1	T	6	166580961	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	7518588	166580961	4534106	519	10527											
TTLL2	83887	broad.mit.edu	37	chr6	167754476	167754476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaccatctgtcccctttgCtgccaattgctttgagctct	7	14	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:167754476C>T	uc003qvs.1	+	3	1176	c.1088C>T	c.(1087-1089)GCT>GTT	p.A363V	TTLL2_uc011egr.1_RNA	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	363	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GTCCCCTTTGCTGCCAATTGC	0.458													T	167754476	C	T	167754476	3	4	12	1	0	0	0	0	1	0	0	0	16724	797	28	2	1098	2	TTLL2	6	167754476	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1173515	167754476	3360591	520	10528											
MLLT4	4301	broad.mit.edu	37	chr6	168319469	168319469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactgccgatgagctggccCgcagtgatggaagggaagtg	16	9	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:168319469C>T	uc003qwd.2	+	20	2882	c.2740C>T	c.(2740-2742)CGC>TGC	p.R914C	MLLT4_uc003qwb.1_Missense_Mutation_p.R899C|MLLT4_uc003qwc.1_Missense_Mutation_p.R915C|MLLT4_uc003qwg.1_Missense_Mutation_p.R224C	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	915					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TGAGCTGGCCCGCAGTGATGG	0.448			T	MLL	AL								T	168319469	C	T	168319469	3	4	12	1	0	0	0	0	1	0	0	0	9629	652	23	1	2821	1	MLLT4	6	168319469	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	564993	168319469	2795598	521	10529											
THBS2	7058	broad.mit.edu	37	chr6	169648977	169648977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagccggcacgccggggtcGggcccgcggaactgcttggc	17	14	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:169648977G>A	uc003qwt.2	-	4	392	c.144C>T	c.(142-144)CCC>CCT	p.P48P		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	48	TSP N-terminal.|Heparin-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGCCGGGGTCGGGCCCGCGGA	0.582													A	169648977	G	A	169648977	2	1	12	1	0	0	0	0	0	0	0	1	15851	1103	39	1		1	THBS2	6	169648977	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1329508	169648977	1466090	522	10530											
MICALL2	79778	broad.mit.edu	37	chr7	1478512	1478512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaggtttcttctcctcctCcttccagctctgcactcggg	9	15	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:1478512C>T	uc003skj.3	-	10	2233	c.2086G>A	c.(2086-2088)GAG>AAG	p.E696K	MICALL2_uc003skh.3_5'UTR|MICALL2_uc003ski.3_Missense_Mutation_p.E183K	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	MICAL-like 2 isoform 1	696						cytoplasm|cytoskeleton	zinc ion binding			central_nervous_system(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TTCTCCTCCTCCTTCCAGCTC	0.642													T	1478512	C	T	1478512	3	4	12	1	0	0	0	0	1	0	0	0	9574	864	30	4	660	4	MICALL2	7	1478512	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08		1478512	157660151	523	10531											
SLC29A4	222962	broad.mit.edu	37	chr7	5340174	5340174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcggcatgcccgccctccGtcaccccgcctggccctgca	10	22	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:5340174G>A	uc003sod.2	+	10	1492	c.1331G>A	c.(1330-1332)CGT>CAT	p.R444H	SLC29A4_uc003soc.2_Missense_Mutation_p.R444H|SLC29A4_uc003soe.2_Missense_Mutation_p.R430H|SLC29A4_uc010ksw.2_Intron	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (nucleoside	444	Extracellular (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			liver(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CCCGCCCTCCGTCACCCCGCC	0.667													A	5340174	G	A	5340174	3	1	12	1	0	0	0	0	1	0	0	0	14537	1145	40	1	1365	1	SLC29A4	7	5340174	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	3861662	5340174	153798489	524	10532											
TNRC18	84629	broad.mit.edu	37	chr7	5396806	5396806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactgtccgaaaacttgaaGggcgacttcaacttgtcctg	10	11	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:5396806G>A	uc003soi.3	-	16	5284	c.4935C>T	c.(4933-4935)CCC>CCT	p.P1645P	TNRC18_uc003soj.2_Silent_p.P27P	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1645							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AAAACTTGAAGGGCGACTTCA	0.547													A	5396806	G	A	5396806	2	1	12	1	0	0	0	0	0	0	0	1	16336	987	35	4		4	TNRC18	7	5396806	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	56632	5396806	153741857	525	10533											
RNF216	54476	broad.mit.edu	37	chr7	5662498	5662498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggattcggggccatcagaagCgatgccgcggctgggggcca	18	11	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:5662498C>T	uc003soy.1	-	17	2784	c.2594G>A	c.(2593-2595)CGC>CAC	p.R865H	RNF216_uc010ksz.1_Missense_Mutation_p.R487H|RNF216_uc010kta.1_Missense_Mutation_p.R487H|RNF216_uc011jwj.1_Missense_Mutation_p.R487H|RNF216_uc003sox.1_Missense_Mutation_p.R922H	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	865					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CCATCAGAAGCGATGCCGCGG	0.617													T	5662498	C	T	5662498	3	4	12	1	0	0	0	0	1	0	0	0	13480	768	27	1	10	1	RNF216	7	5662498	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	265692	5662498	153476165	526	10534											
USP42	84132	broad.mit.edu	37	chr7	6155062	6155062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgggctccagaatttggGcaatacctgttttgccaatg	11	9	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:6155062G>A	uc011jwo.1	+	3	473	c.350G>A	c.(349-351)GGC>GAC	p.G117D	USP42_uc011jwn.1_5'UTR|USP42_uc010kth.1_Intron|USP42_uc011jwp.1_Missense_Mutation_p.G117D|USP42_uc011jwq.1_5'UTR|USP42_uc011jwr.1_5'Flank	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	117					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CAGAATTTGGGCAATACCTGT	0.443													A	6155062	G	A	6155062	3	1	12	1	0	0	0	0	1	0	0	0	17070	1203	42	2	356	2	USP42	7	6155062	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	492564	6155062	152983601	527	10535											
GLCCI1	113263	broad.mit.edu	37	chr7	8125841	8125841	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtctcgtcagcctatctcGgcccctctcttttcatgtcc	7	16	5	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:8125841G>A	uc003srk.2	+	8	1876	c.1317G>A	c.(1315-1317)TCG>TCA	p.S439S		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	439											0		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AGCCTATCTCGGCCCCTCTCT	0.388													A	8125841	G	A	8125841	2	1	12	1	0	0	0	0	0	0	0	1	6431	1103	39	1		1	GLCCI1	7	8125841	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1970779	8125841	151012822	528	10536											
PHF14	9678	broad.mit.edu	37	chr7	11022051	11022051	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaaaggacagtggagaAggttcctgtagtgattctga	13	6	2	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:11022051A>C	uc003sry.1	+	3	600	c.165A>C	c.(163-165)GAA>GAC	p.E55D	PHF14_uc011jxi.1_Intron|PHF14_uc003srz.2_Missense_Mutation_p.E55D|PHF14_uc011jxj.1_Intron	NM_014660	NP_055475	O94880	PHF14_HUMAN	PHD finger protein 14 isoform 2	55							zinc ion binding			kidney(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		ACAGTGGAGAAGGTTCCTGTA	0.294													C	11022051	A	C	11022051	3	2	12	1	0	0	0	0	1	0	0	0	11825	69	3	5	175	5	PHF14	7	11022051	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2896210	11022051	148116612	529	10537											
SCIN	85477	broad.mit.edu	37	chr7	12683795	12683795	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaattcactgaattctaaCgatgtttttgtcctgaaact	6	8	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:12683795C>T	uc003ssn.3	+	12	1824	c.1614C>T	c.(1612-1614)AAC>AAT	p.N538N	SCIN_uc010ktt.2_Intron|SCIN_uc003sso.3_Silent_p.N291N	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN	scinderin isoform 1	538	Ca(2+)-dependent actin binding.|Gelsolin-like 5.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TGAATTCTAACGATGTTTTTG	0.403													T	12683795	C	T	12683795	2	4	12	1	0	0	0	0	0	0	0	1	13905	535	19	1		1	SCIN	7	12683795	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1661744	12683795	146454868	530	10538											
HDAC9	9734	broad.mit.edu	37	chr7	18630000	18630000	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ataaaacagcaacaagaactCctagaaaaggagcagaaact	7	8	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:18630000C>A	uc003suh.2	+	3	338	c.297C>A	c.(295-297)CTC>CTA	p.L99L	HDAC9_uc003sue.2_Silent_p.L99L|HDAC9_uc011jyd.1_Silent_p.L99L|HDAC9_uc003sui.2_Silent_p.L102L|HDAC9_uc003suj.2_Silent_p.L102L|HDAC9_uc011jya.1_Silent_p.L140L|HDAC9_uc003sua.1_Silent_p.L121L|HDAC9_uc011jyb.1_Silent_p.L99L|HDAC9_uc003sud.1_Silent_p.L99L|HDAC9_uc011jyc.1_Silent_p.L102L|HDAC9_uc003suf.1_Silent_p.L130L|HDAC9_uc010kud.1_Silent_p.L102L|HDAC9_uc011jye.1_Silent_p.L71L|HDAC9_uc011jyf.1_Silent_p.L68L|HDAC9_uc010kue.1_5'UTR	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	99				L -> I (in Ref. 8; AAF04254).	B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	AACAAGAACTCCTAGAAAAGG	0.458													A	18630000	C	A	18630000	2	1	12	1	0	0	0	0	0	0	0	1	7014	842	30	5		5	HDAC9	7	18630000	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	5946205	18630000	140508663	531	10539											
HDAC9	9734	broad.mit.edu	37	chr7	18875107	18875107	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggatgttcaccatggaaaCggtacccagcaggcctttta	10	10	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:18875107C>T	uc003suh.2	+	19	2516	c.2475C>T	c.(2473-2475)AAC>AAT	p.N825N	HDAC9_uc003sue.2_Silent_p.N825N|HDAC9_uc011jyd.1_Silent_p.N825N|HDAC9_uc003sui.2_Silent_p.N828N|HDAC9_uc003suj.2_Silent_p.N784N|HDAC9_uc003suk.2_Silent_p.N73N	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	825	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	ACCATGGAAACGGTACCCAGC	0.463													T	18875107	C	T	18875107	2	4	12	1	0	0	0	0	0	0	0	1	7014	535	19	1		1	HDAC9	7	18875107	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	245107	18875107	140263556	532	10540											
DNAH11	8701	broad.mit.edu	37	chr7	21631141	21631141	+	Frame_Shift_Del	DEL	A	A	-													gacaagggtgatttgtttacAaaaaaatacaagttaatcca							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:21631140_21631140CA>C	uc003svc.3	+	13	2643	c.2612_2612CA>C	c.(2611-2613)acafs	p.T871fs		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	871	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GATTTGTTTACAAAAAAATAC	0.473									Kartagener syndrome				-	21631141	A	-	21631141	7	5	12	1	0	1	0	1	0	0	0	0	4599	117	5	0	2667	0	DNAH11	7	21631141	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	2756034	21631141	137507522	533	10541											
CDCA7L	55536	broad.mit.edu	37	chr7	21942601	21942601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagacttacttacctctcCagatattccttaacattgtc	4	11	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:21942601C>T	uc010kuk.2	-	9	1449	c.1329G>A	c.(1327-1329)CTG>CTA	p.L443L	CDCA7L_uc003sve.3_Silent_p.L409L|CDCA7L_uc010kul.2_Silent_p.L397L|CDCA7L_uc003svf.3_Silent_p.L442L	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like isoform 1	443					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus					0						CTTACCTCTCCAGATATTCCT	0.483													T	21942601	C	T	21942601	2	4	12	1	0	0	0	0	0	0	0	1	3091	581	21	4		4	CDCA7L	7	21942601	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	311460	21942601	137196062	534	10542											
RAPGEF5	9771	broad.mit.edu	37	chr7	22206738	22206738	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtcatgaagacagtgtaCgtgagaaggaagtcatccag	13	6	2	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:22206738C>T	uc011jym.1	-	2	398	c.324G>A	c.(322-324)ACG>ACA	p.T108T	RAPGEF5_uc003svg.2_Silent_p.T258T			Q92565	RPGF5_HUMAN	Synthetic construct DNA, clone: pF1KSDA0277, Homo sapiens RAPGEF5 gene for Rap guanine nucleotide exchange factor 5, complete cds, without stop codon, in Flexi system.	108	N-terminal Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			ovary(1)	1						AGACAGTGTACGTGAGAAGGA	0.453													T	22206738	C	T	22206738	2	4	12	1	0	0	0	0	0	0	0	1	13047	523	19	1		1	RAPGEF5	7	22206738	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	264137	22206738	136931925	535	10543											
HOXA2	3199	broad.mit.edu	37	chr7	27140675	27140675	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgggaaactttgggagtcGccattgtgtccattgggagc	14	8	0	0	rs140022054		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:27140675G>A	uc003syh.2	-	2	1076	c.801C>T	c.(799-801)GGC>GGT	p.G267G		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	267						nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						TTTGGGAGTCGCCATTGTGTC	0.507													A	27140675	G	A	27140675	2	1	12	1	0	0	0	0	0	0	0	1	7292	1074	38	1		1	HOXA2	7	27140675	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	4933937	27140675	131997988	536	10544											
HOXA5	3202	broad.mit.edu	37	chr7	27181672	27181672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagcgcgtgtaggccgtccGggcccttttgccttccgggc	15	14	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:27181672G>A	uc003syn.1	-	2	656	c.595C>T	c.(595-597)CGG>TGG	p.R199W		NM_019102	NP_061975	P20719	HXA5_HUMAN	homeobox A5	199	Homeobox.				negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TAGGCCGTCCGGGCCCTTTTG	0.562											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	27181672	G	A	27181672	3	1	12	1	0	0	0	0	1	0	0	0	7295	1115	39	1	221	1	HOXA5	7	27181672	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	40997	27181672	131956991	537	10545											
JAZF1	221895	broad.mit.edu	37	chr7	27872467	27872470	+	Frame_Shift_Del	DEL	ATTG	ATTG	-													gccgacaccgggggatggaaAttgattgtgtggtgccgcag					rs143697346	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:27872466_27872469AATTG>A	uc003szn.3	-	4	923_926	c.682_685CAATT>T	c.(682-687)aatttcfs	p.N228fs	JAZF1_uc003szm.3_Frame_Shift_Del_p.N164fs	NM_175061	NP_778231	Q86VZ6	JAZF1_HUMAN	Homo sapiens JAZF zinc finger 1 (JAZF1), mRNA.	228					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						GGGGGATGGAAATTGATTGTGTGG	0.485			T	SUZ12	endometrial stromal tumours								-	27872470	ATTG	-	27872467	7	5	12	1	0	1	0	1	0	0	0	0	7946	98	4	0	51	0	JAZF1	7	27872467	Frame_Shift_Del	DEL	ATTG	TCGA-BR-4257-01A-01D-1126-08	690795	27872467	131266196	538	10546											
WIPF3	644150	broad.mit.edu	37	chr7	29918676	29918676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcaaacacacgaggcgCgagcacacctcccaccctgg	9	17	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:29918676C>T	uc003taj.1	+	3	275	c.275C>T	c.(274-276)GCG>GTG	p.A92V		NM_001080529	NP_001073998	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	92										ovary(1)	1						ACACGAGGCGCGAGCACACCT	0.517													T	29918676	C	T	29918676	3	4	12	1	0	0	0	0	1	0	0	0	17366	768	27	1	285	1	WIPF3	7	29918676	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2046209	29918676	129219987	539	10547											
CCDC129	223075	broad.mit.edu	37	chr7	31692254	31692254	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cacccaggcatggccccgagGactgtgtttcctcccgatga	11	15	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:31692254G>T	uc003tcj.1	+	14	3939	c.2946G>T	c.(2944-2946)AGG>AGT	p.R982S	CCDC129_uc011kad.1_Missense_Mutation_p.R992S|CCDC129_uc003tci.1_Missense_Mutation_p.R833S|CCDC129_uc011kae.1_Missense_Mutation_p.R1008S|CCDC129_uc003tck.1_Missense_Mutation_p.R890S	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	982											0						TGGCCCCGAGGACTGTGTTTC	0.522													T	31692254	G	T	31692254	3	4	12	1	0	0	0	0	1	0	0	0	2764	1165	41	5	2996	5	CCDC129	7	31692254	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1773578	31692254	127446409	540	10548											
CCDC129	223075	broad.mit.edu	37	chr7	31692285	31692285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccgatgatggccaggagGctccctgttcaggtgggacc	14	13	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:31692285G>A	uc003tcj.1	+	14	3970	c.2977G>A	c.(2977-2979)GCT>ACT	p.A993T	CCDC129_uc011kad.1_Missense_Mutation_p.A1003T|CCDC129_uc003tci.1_Missense_Mutation_p.A844T|CCDC129_uc011kae.1_Missense_Mutation_p.A1019T|CCDC129_uc003tck.1_Missense_Mutation_p.A901T	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	993											0						TGGCCAGGAGGCTCCCTGTTC	0.532													A	31692285	G	A	31692285	3	1	12	1	0	0	0	0	1	0	0	0	2764	1203	42	2	3027	2	CCDC129	7	31692285	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	31	31692285	127446378	541	10549											
HECW1	23072	broad.mit.edu	37	chr7	43477677	43477677	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttgccaagagccgccccAtcatcaagcgcttcttggga	10	13	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:43477677A>G	uc003tid.1	+	9	1482	c.877A>G	c.(877-879)ATC>GTC	p.I293V	HECW1_uc011kbi.1_Missense_Mutation_p.I293V|HECW1_uc003tie.1_Missense_Mutation_p.I325V	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	293	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GAGCCGCCCCATCATCAAGCG	0.483													G	43477677	A	G	43477677	3	3	12	1	0	0	0	0	1	0	0	0	7042	217	8	3	903	3	HECW1	7	43477677	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	11785392	43477677	115660986	542	10550											
URGCP	55665	broad.mit.edu	37	chr7	43918266	43918266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctactgacgtccatgcgcaCgaaggcgaaggcgggcgccc	15	14	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:43918266C>T	uc003tiw.2	-	6	853	c.796G>A	c.(796-798)GTG>ATG	p.V266M	URGCP_uc003tiu.2_Missense_Mutation_p.V223M|URGCP_uc003tiv.2_Missense_Mutation_p.V191M|URGCP_uc003tix.2_Missense_Mutation_p.V257M|URGCP_uc003tiy.2_Missense_Mutation_p.V223M|URGCP_uc003tiz.2_Missense_Mutation_p.V223M|URGCP_uc011kbj.1_Missense_Mutation_p.V223M	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	266					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						TCCATGCGCACGAAGGCGAAG	0.652													T	43918266	C	T	43918266	3	4	12	1	0	0	0	0	1	0	0	0	17023	536	19	1	2003	1	URGCP	7	43918266	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	440589	43918266	115220397	543	10551											
ZNF107	51427	broad.mit.edu	37	chr7	64168629	64168629	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcctttaactgctcctcAacccttaatagacataagat	4	11	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:64168629A>G	uc003ttd.2	+	7	2733	c.1947A>G	c.(1945-1947)TCA>TCG	p.S649S	ZNF107_uc003tte.2_Silent_p.S649S	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	649	C2H2-type 21.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ACTGCTCCTCAACCCTTAATA	0.373													G	64168629	A	G	64168629	2	3	12	1	0	0	0	0	0	0	0	1	17712	117	5	3		3	ZNF107	7	64168629	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	20250363	64168629	94970034	544	10552											
CALN1	83698	broad.mit.edu	37	chr7	71252835	71252835	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaaggccatagcaaaggcGcatatgaggctcttccggac	12	10	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:71252835G>A	uc003twa.3	-	6	1112	c.585C>T	c.(583-585)TGC>TGT	p.C195C	CALN1_uc003twb.3_Silent_p.C237C|CALN1_uc003twc.3_Silent_p.C195C	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN	calneuron 1 isoform 2	195	Helical; Anchor for type IV membrane protein; (Potential).					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TAGCAAAGGCGCATATGAGGC	0.572													A	71252835	G	A	71252835	2	1	12	1	0	0	0	0	0	0	0	1	2591	1079	38	1		1	CALN1	7	71252835	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	7084206	71252835	87885828	545	10553											
PHTF2	57157	broad.mit.edu	37	chr7	77567104	77567104	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatgggaaggtaatgattgTaagaaagcagacatgtctgt	13	3	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:77567104T>C	uc003ugs.3	+	12	1542	c.1416T>C	c.(1414-1416)TGT>TGC	p.C472C	PHTF2_uc003ugp.2_Silent_p.C434C|PHTF2_uc003ugq.3_Silent_p.C434C|PHTF2_uc010ldv.2_Silent_p.C434C|PHTF2_uc003ugt.3_Silent_p.C438C|PHTF2_uc003ugu.3_Silent_p.C434C|PHTF2_uc003ugv.2_Silent_p.C297C|PHTF2_uc010ldw.1_Intron	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1						GTAATGATTGTAAGAAAGCAG	0.318													C	77567104	T	C	77567104	2	2	12	1	0	0	0	0	0	0	0	1	11863	1644	57	3		3	PHTF2	7	77567104	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	6314269	77567104	81571559	546	10554											
MAGI2	9863	broad.mit.edu	37	chr7	78636481	78636481	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagaacccttttgaaatcGtaagttgaggtagtgacgaa	10	7	0	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:78636481G>A	uc003ugx.2	-	2	597	c.343C>T	c.(343-345)CGA>TGA	p.R115*	MAGI2_uc003ugy.2_Nonsense_Mutation_p.R115*	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	115	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTTTGAAATCGTAAGTTGAGG	0.383													A	78636481	G	A	78636481	4	1	12	1	0	0	0	0	0	1	0	0	9191	1153	40	1	4108	1	MAGI2	7	78636481	Nonsense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1069377	78636481	80502182	547	10555											
GNAT3	346562	broad.mit.edu	37	chr7	80108232	80108232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctggatctctccacagcCgttttattacctcagccagt	6	14	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:80108232C>T	uc011kgu.1	-	4	386	c.386G>A	c.(385-387)CGG>CAG	p.R129Q	CD36_uc003uhc.2_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha	129					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						TCTCCACAGCCGTTTTATTAC	0.443													T	80108232	C	T	80108232	3	4	12	1	0	0	0	0	1	0	0	0	6513	652	23	1	696	1	GNAT3	7	80108232	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1471751	80108232	79030431	548	10556											
PCLO	27445	broad.mit.edu	37	chr7	82544741	82544741	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttcttatgctttgactgCttttgataaagtatggctgc	9	6	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:82544741C>T	uc003uhx.2	-	7	12850	c.12561G>A	c.(12559-12561)AAG>AAA	p.K4187K	PCLO_uc003uhv.2_Silent_p.K4187K|PCLO_uc010lec.2_Silent_p.K1152K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4118					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GCTTTGACTGCTTTTGATAAA	0.353													T	82544741	C	T	82544741	2	4	12	1	0	0	0	0	0	0	0	1	11583	796	28	2		2	PCLO	7	82544741	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2436509	82544741	76593922	549	10557											
ZNF804B	219578	broad.mit.edu	37	chr7	88963180	88963180	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaagtgttttacacaataCcatctccataaactctaaaa	4	9	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:88963180C>A	uc011khi.1	+	4	1422	c.884C>A	c.(883-885)ACC>AAC	p.T295N		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	295						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTACACAATACCATCTCCATA	0.363										HNSCC(36;0.09)			A	88963180	C	A	88963180	3	1	12	1	0	0	0	0	1	0	0	0	18168	507	18	5	898	5	ZNF804B	7	88963180	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	6418439	88963180	70175483	550	10558											
STEAP1	26872	broad.mit.edu	37	chr7	89790622	89790622	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaagttgctaaactgggcAtatcaacaggtaagatgaca	9	7	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:89790622A>G	uc003ujx.2	+	3	788	c.588A>G	c.(586-588)GCA>GCG	p.A196A	STEAP1_uc010lem.2_Silent_p.A196A	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the	196	Ferric oxidoreductase.				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	all_hematologic(106;0.112)					TAAACTGGGCATATCAACAGG	0.368													G	89790622	A	G	89790622	2	3	12	1	0	0	0	0	0	0	0	1	15276	204	8	3		3	STEAP1	7	89790622	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	827442	89790622	69348041	551	10559											
AKAP9	10142	broad.mit.edu	37	chr7	91632476	91632476	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accatctgtaacaaaggaatCatcacttagagcaactcaac	5	11	4	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:91632476C>T	uc003ulg.2	+	8	3470	c.3245C>T	c.(3244-3246)TCA>TTA	p.S1082L	AKAP9_uc003ule.2_Missense_Mutation_p.S1094L|AKAP9_uc003ulf.2_Missense_Mutation_p.S1082L|AKAP9_uc003uli.2_Missense_Mutation_p.S707L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1094					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAAAGGAATCATCACTTAGA	0.323			T	BRAF	papillary thyroid								T	91632476	C	T	91632476	3	4	12	1	0	0	0	0	1	0	0	0	459	838	29	4	3275	4	AKAP9	7	91632476	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1841854	91632476	67506187	552	10560											
CASD1	64921	broad.mit.edu	37	chr7	94168365	94168365	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcacatttctggagcaagTacagtaagtatttggaattt	8	5	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:94168365T>C	uc003uni.3	+	10	1580	c.1353T>C	c.(1351-1353)AGT>AGC	p.S451S	CASD1_uc003unj.3_Silent_p.S451S	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	451	Helical; (Potential).					integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTGGAGCAAGTACAGTAAGTA	0.328													C	94168365	T	C	94168365	2	2	12	1	0	0	0	0	0	0	0	1	2664	1635	57	3		3	CASD1	7	94168365	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	2535889	94168365	64970298	553	10561											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97935802	97935802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattttcttccagcaacttcGtgtacgacgacgggaaccaa	8	12	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:97935802G>A	uc003upj.2	-	11	1453	c.1190C>T	c.(1189-1191)ACG>ATG	p.T397M	uc003upk.1_5'Flank	NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	397	SH3.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			ovary(1)	1	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CAGCAACTTCGTGTACGACGA	0.567													A	97935802	G	A	97935802	3	1	12	1	0	0	0	0	1	0	0	0	1302	1145	40	1	361	1	BAIAP2L1	7	97935802	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	3767437	97935802	61202861	554	10562											
TRRAP	8295	broad.mit.edu	37	chr7	98534814	98534814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaattaccttcctcagtccAgggagaaaatcatcgctgca	8	12	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:98534814A>G	uc003upp.2	+	29	4356	c.4147A>G	c.(4147-4149)AGG>GGG	p.R1383G	TRRAP_uc011kis.1_Missense_Mutation_p.R1383G|TRRAP_uc003upr.2_Missense_Mutation_p.R1075G	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1383					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCTCAGTCCAGGGAGAAAAT	0.413													G	98534814	A	G	98534814	3	3	12	1	0	0	0	0	1	0	0	0	16598	179	7	3	4257	3	TRRAP	7	98534814	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	599012	98534814	60603849	555	10563											
TRRAP	8295	broad.mit.edu	37	chr7	98580976	98580976	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggaacaacagcctgcaCgacatgaagacggtggtgaa	14	8	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:98580976C>T	uc003upp.2	+	59	9104	c.8895C>T	c.(8893-8895)CAC>CAT	p.H2965H	TRRAP_uc011kis.1_Silent_p.H2947H|TRRAP_uc003upr.2_Silent_p.H2664H	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2965	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACAGCCTGCACGACATGAAGA	0.552													T	98580976	C	T	98580976	2	4	12	1	0	0	0	0	0	0	0	1	16598	535	19	1		1	TRRAP	7	98580976	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	46162	98580976	60557687	556	10564											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99129418	99129419	+	Frame_Shift_Ins	INS	-	-	A													cacatgggtcagaaaaatgaINSaaaaaatggcatctgtgagg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:99129417_99129418G>GA	uc003uqv.3	+	6	2189_2190	c.2065_2066G>GA	c.(2065-2067)gaafs	p.E689fs	ZKSCAN5_uc010lfx.3_Frame_Shift_Ins_p.E689fs|ZKSCAN5_uc003uqw.3_Frame_Shift_Ins_p.E689fs|ZKSCAN5_uc003uqx.3_Frame_Shift_Ins_p.E616fs|ZKSCAN5_uc003uqy.3_Frame_Shift_Ins_p.E425fs	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	689					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCAGAAAAATGAAAAAAATGGC	0.411													A	99129419	-	A	99129418	7	5	12	1	0	1	1	0	0	0	0	0	17687	246	9	0	2088	0	ZKSCAN5	7	99129418	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	548442	99129418	60009245	557	10565											
AGFG2	3268	broad.mit.edu	37	chr7	100148122	100148124	+	In_Frame_Del	DEL	AGA	AGA	-													gtttctccaggaaaaatatgAgaagaagagatggtaaggag							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:100148121_100148123GAGA>G	uc003uvf.3	+	2	554_556	c.418_420GAGA>G	c.(418-420)gag>G	p.E140del	AGFG2_uc003uvg.1_In_Frame_Del_p.E140del	NM_006076	NP_006067	O95081	AGFG2_HUMAN	Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA.	140	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGAAAAATATGAGAAGAAGAGAT	0.429													-	100148124	AGA	-	100148122	7	5	12	1	0	1	0	1	0	0	0	0	381	304	11	0	429	0	AGFG2	7	100148122	In_Frame_Del	DEL	AGA	TCGA-BR-4257-01A-01D-1126-08	1018704	100148122	58990541	558	10566											
LRCH4	4034	broad.mit.edu	37	chr7	100175014	100175014	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgccggctcctcccgccTgagggaccaagacagggcaa	12	17	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:100175014T>C	uc003uvj.2	-	11	1232	c.1179_splice	c.e11-1	p.R393_splice	LRCH4_uc010lgz.2_Splice_Site|LRCH4_uc003uvi.2_Splice_Site|LRCH4_uc011kjw.1_Splice_Site|LRCH4_uc011kjx.1_Splice_Site	NM_002319	NP_002310	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH)						nervous system development	PML body	protein binding			large_intestine(1)|ovary(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCTCCCGCCTGAGGGACCAA	0.731													C	100175014	T	C	100175014	5	2	12	1	0	0	0	0	0	0	1	0	8935	1594	55	3	906	3	LRCH4	7	100175014	Splice_Site	SNP	T	TCGA-BR-4257-01A-01D-1126-08	26892	100175014	58963649	559	10567											
MLL5	55904	broad.mit.edu	37	chr7	104742433	104742433	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtaggactcacattggacAgcagcgtcggagacacagaa	13	9	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:104742433A>G	uc003vcm.2	+	17	2522	c.1988A>G	c.(1987-1989)CAG>CGG	p.Q663R	MLL5_uc010ljc.2_Missense_Mutation_p.Q663R|MLL5_uc010lje.1_RNA	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	663					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						CACATTGGACAGCAGCGTCGG	0.398													G	104742433	A	G	104742433	3	3	12	1	0	0	0	0	1	0	0	0	9624	188	7	3	2046	3	MLL5	7	104742433	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	4567419	104742433	54396230	560	10568											
MLL5	55904	broad.mit.edu	37	chr7	104748331	104748331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgttaatgacaatttgatcGacgggaattgcacaccccag	9	10	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:104748331G>A	uc003vcm.2	+	22	3961	c.3427G>A	c.(3427-3429)GAC>AAC	p.D1143N	MLL5_uc010ljc.2_Missense_Mutation_p.D1143N|MLL5_uc010lje.1_RNA|MLL5_uc010ljf.1_RNA|MLL5_uc010ljg.2_5'UTR|MLL5_uc010ljh.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1143					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						CAATTTGATCGACGGGAATTG	0.348													A	104748331	G	A	104748331	3	1	12	1	0	0	0	0	1	0	0	0	9624	1058	37	1	3505	1	MLL5	7	104748331	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	5898	104748331	54390332	561	10569											
TMEM168	64418	broad.mit.edu	37	chr7	112407372	112407372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccaaaaaaggttcagaccGcataaccaatttgccaaatg	6	10	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:112407372G>A	uc003vgn.2	-	5	2366	c.1974C>T	c.(1972-1974)TGC>TGT	p.C658C	TMEM168_uc010lju.2_Silent_p.C658C|TMEM168_uc011kmr.1_Silent_p.C274C	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	transmembrane protein 168	658	Helical; (Potential).					integral to membrane|transport vesicle				ovary(1)|central_nervous_system(1)	2						GGTTCAGACCGCATAACCAAT	0.433													A	112407372	G	A	112407372	2	1	12	1	0	0	0	0	0	0	0	1	16080	1079	38	1		1	TMEM168	7	112407372	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	7659041	112407372	46731291	562	10570											
FOXP2	93986	broad.mit.edu	37	chr7	114299690	114299690	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttacagctggtttacacggAcatttgcttacttcaggcgt	9	9	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:114299690A>G	uc003vhb.2	+	13	1983	c.1609A>G	c.(1609-1611)ACA>GCA	p.T537A	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.T562A|FOXP2_uc003vha.2_Missense_Mutation_p.T445A|FOXP2_uc011kmu.1_Missense_Mutation_p.T554A|FOXP2_uc011kmv.1_Missense_Mutation_p.T536A|FOXP2_uc010ljz.1_Missense_Mutation_p.T352A|FOXP2_uc003vhe.1_Missense_Mutation_p.T107A	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	537	Fork-head.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						GTTTACACGGACATTTGCTTA	0.333													G	114299690	A	G	114299690	3	3	12	1	0	0	0	0	1	0	0	0	6027	275	10	3	1822	3	FOXP2	7	114299690	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1892318	114299690	44838973	563	10571											
RNF148	378925	broad.mit.edu	37	chr7	122341990	122341990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtttgcaagttaaaatgCgtactacatcttggggtttg	10	5	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:122341990C>T	uc003vkk.1	-	1	1032	c.815G>A	c.(814-816)CGC>CAC	p.R272H	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF133_uc003vkj.1_5'Flank|RNF148_uc010lkr.1_3'UTR	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	ring finger protein 148 precursor	272	RING-type; atypical.					integral to membrane	zinc ion binding				0						AGTTAAAATGCGTACTACATC	0.418													T	122341990	C	T	122341990	3	4	12	1	0	0	0	0	1	0	0	0	13449	768	27	1	106	1	RNF148	7	122341990	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	8042300	122341990	36796673	564	10572											
WASL	8976	broad.mit.edu	37	chr7	123334811	123334812	+	Frame_Shift_Ins	INS	-	-	T													acagcttcaacacctcctgtINStttttcaataaagtcatata							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:123334810_123334811G>GT	uc003vkz.3	-	7	1112_1113	c.784_785C>AC	c.(784-786)acafs	p.T262fs		NM_003941	NP_003932	O00401	WASL_HUMAN	Homo sapiens Wiskott-Aldrich syndrome-like (WASL), mRNA.	262					actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	p.T262A(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACACCTCCTGTTTTTTCAATA	0.347													T	123334812	-	T	123334811	7	5	12	1	0	1	1	0	0	0	0	0	17253	1725	60	0	749	0	WASL	7	123334811	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	992821	123334811	35803852	565	10573											
LRRC4	64101	broad.mit.edu	37	chr7	127669218	127669218	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtagtctgaatgagcacCgtggtagaggtggtatatgc	16	6	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:127669218C>T	uc003vmk.2	-	2	1613	c.1476G>A	c.(1474-1476)ACG>ACA	p.T492T	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	492	Thr-rich.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		GAATGAGCACCGTGGTAGAGG	0.562													T	127669218	C	T	127669218	2	4	12	1	0	0	0	0	0	0	0	1	8997	639	23	1		1	LRRC4	7	127669218	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	4334407	127669218	31469445	566	10574											
IMPDH1	3614	broad.mit.edu	37	chr7	128038480	128038480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccttaccaagactatgacGtcgacgcccgcctgggtgag	13	13	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:128038480G>A	uc011kol.1	-	7	913	c.807C>T	c.(805-807)GAC>GAT	p.D269D	IMPDH1_uc011kom.1_Silent_p.D264D|IMPDH1_uc003vmt.2_Silent_p.D244D|IMPDH1_uc003vmu.2_Silent_p.D354D|IMPDH1_uc003vmw.2_Silent_p.D344D|IMPDH1_uc011kon.1_Silent_p.D321D|IMPDH1_uc003vmv.2_Silent_p.D318D|IMPDH1_uc003vmx.2_Silent_p.D277D|IMPDH1_uc003vmy.2_Silent_p.D285D	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	inosine monophosphate dehydrogenase 1 isoform e	269	NAD (By similarity).				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			skin(2)|lung(1)|central_nervous_system(1)	4					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	AGACTATGACGTCGACGCCCG	0.587											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	128038480	G	A	128038480	2	1	12	1	0	0	0	0	0	0	0	1	7726	1136	40	1		1	IMPDH1	7	128038480	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	369262	128038480	31100183	567	10575											
FLNC	2318	broad.mit.edu	37	chr7	128478816	128478816	+	Frame_Shift_Del	DEL	C	C	-													gcatgtggcctttgcgggtgCccccatcacccgcagtccct							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:128478815_128478815GC>G	uc003vnz.4	+	7	1578	c.1369_1369GC>G	c.(1369-1371)gccfs	p.A457fs	FLNC_uc003voa.4_Frame_Shift_Del_p.A457fs	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	457					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTTTGCGGGTGCCCCCATCAC	0.622													-	128478816	C	-	128478816	7	5	12	1	0	1	0	1	0	0	0	0	5935	739	26	0	1400	0	FLNC	7	128478816	Frame_Shift_Del	DEL	C	TCGA-BR-4257-01A-01D-1126-08	440336	128478816	30659847	568	10576											
CPA4	51200	broad.mit.edu	37	chr7	129933076	129933076	+	Frame_Shift_Del	DEL	A	A	-													gtccagcatctgtggccaagAaaaattttttgggtaagttc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:129933075_129933075GA>G	uc003vpr.3	+	0	102	c.55_55GA>G	c.(55-57)gaafs	p.E19fs	CPA4_uc011kpd.2_Frame_Shift_Del_p.E19fs|CPA4_uc011kpe.2_5'UTR	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	Homo sapiens carboxypeptidase A4 (CPA4), transcript variant 1, mRNA.	19					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					CTGTGGCCAAGAAAAATTTTT	0.423													-	129933076	A	-	129933076	7	5	12	1	0	1	0	1	0	0	0	0	3792	246	9	0	58	0	CPA4	7	129933076	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	1454260	129933076	29205587	569	10577											
CPA4	51200	broad.mit.edu	37	chr7	129950820	129950820	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaggccccagatgccgaGgaactcgtgagtcacagctg	12	11	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:129950820G>T	uc003vpr.2	+	9	1034	c.987G>T	c.(985-987)GAG>GAT	p.E329D	CPA4_uc011kpd.1_Missense_Mutation_p.E296D|CPA4_uc011kpe.1_Missense_Mutation_p.E225D	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4 preproprotein	329					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					CAGATGCCGAGGAACTCGTGA	0.567													T	129950820	G	T	129950820	3	4	12	1	0	0	0	0	1	0	0	0	3792	991	35	5	1021	5	CPA4	7	129950820	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	17744	129950820	29187843	570	10578											
TTC26	79989	broad.mit.edu	37	chr7	138832998	138832998	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccctctgctactacaagTtggattactatgatgtgtct	9	9	2	1	rs144351469		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:138832998T>C	uc003vus.2	+	7	706	c.592T>C	c.(592-594)TTG>CTG	p.L198L	TTC26_uc003vuq.2_Silent_p.L198L|TTC26_uc011kqm.1_Intron|TTC26_uc003vur.3_Silent_p.L198L|TTC26_uc011kqn.1_Silent_p.L198L|TTC26_uc011kqo.1_Silent_p.L167L|TTC26_uc011kqp.1_Silent_p.L93L|TTC26_uc003vut.2_Silent_p.L58L|TTC26_uc011kqq.1_Intron	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26 isoform 1	198							binding			ovary(1)	1						CTACTACAAGTTGGATTACTA	0.388													C	138832998	T	C	138832998	2	2	12	1	0	0	0	0	0	0	0	1	16691	1722	60	3		3	TTC26	7	138832998	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	8882178	138832998	20305665	571	10579											
SLC37A3	84255	broad.mit.edu	37	chr7	140051864	140051864	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggggcggcttctcctcaccaAtttcttctggtgacaccagg	11	13	4	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:140051864A>T	uc003vvo.2	-	8	867	c.701T>A	c.(700-702)ATT>AAT	p.I234N	SLC37A3_uc003vvp.2_Missense_Mutation_p.I234N|SLC37A3_uc010lnh.2_Missense_Mutation_p.I234N|SLC37A3_uc011kqz.1_RNA|SLC37A3_uc011kra.1_Missense_Mutation_p.I234N|SLC37A3_uc011krb.1_Missense_Mutation_p.I206N	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	solute carrier family 37 (glycerol-3-phosphate	234					carbohydrate transport|transmembrane transport	integral to membrane				ovary(3)	3	Melanoma(164;0.0142)					CTCCTCACCAATTTCTTCTGG	0.478													T	140051864	A	T	140051864	3	4	12	1	0	0	0	0	1	0	0	0	14599	101	4	5	964	5	SLC37A3	7	140051864	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1218866	140051864	19086799	572	10580											
CASP2	835	broad.mit.edu	37	chr7	142997069	142997069	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctgcacaccgagtcacGgactcctgcatcgtggcact	9	15	1	0	rs114290247	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:142997069G>A	uc003wco.2	+	7	948	c.801G>A	c.(799-801)ACG>ACA	p.T267T	CASP2_uc003wcp.2_3'UTR|CASP2_uc011kta.1_Silent_p.T151T|CASP2_uc003wcq.2_RNA|CASP2_uc011ktb.1_Silent_p.T17T	NM_032982	NP_116764	P42575	CASP2_HUMAN	caspase 2 isoform 1 preproprotein	267					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			lung(2)|ovary(1)	3	Melanoma(164;0.059)					ACCGAGTCACGGACTCCTGCA	0.517											OREG0018400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	142997069	G	A	142997069	2	1	12	1	0	0	0	0	0	0	0	1	2671	1103	39	1		1	CASP2	7	142997069	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2945205	142997069	16141594	573	10581											
FAM115A	9747	broad.mit.edu	37	chr7	143573696	143573696	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgaaggcagcagagggagtCgccatggctctattggtttc	14	9	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:143573696C>T	uc003wdo.1	-	2	139	c.6G>A	c.(4-6)GCG>GCA	p.A2A	FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Silent_p.A2A	NM_014719	NP_055534	Q9Y4C2	F115A_HUMAN	hypothetical protein LOC9747	2											0	Melanoma(164;0.0903)					CAGAGGGAGTCGCCATGGCTC	0.468													T	143573696	C	T	143573696	2	4	12	1	0	0	0	0	0	0	0	1	5405	871	31	1		1	FAM115A	7	143573696	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	576627	143573696	15564967	574	10582											
OR2A14	135941	broad.mit.edu	37	chr7	143827119	143827119	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccctgaggagggcactgaGgaaggagaggctgacgtgag	19	8	0	5			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:143827119G>T	uc011kua.1	+	1	914	c.914G>T	c.(913-915)AGG>ATG	p.R305M		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A,	305	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)					AGGGCACTGAGGAAGGAGAGG	0.488													T	143827119	G	T	143827119	3	4	12	1	0	0	0	0	1	0	0	0	10976	1000	35	5	916	5	OR2A14	7	143827119	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	253423	143827119	15311544	575	10583											
CUL1	8454	broad.mit.edu	37	chr7	148496368	148496368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttatcttgttgcataggCggccatcgtgagaatcatga	10	9	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:148496368C>T	uc010lpg.2	+	21	2664	c.2138C>T	c.(2137-2139)GCG>GTG	p.A713V	CUL1_uc003wey.2_Missense_Mutation_p.A713V|CUL1_uc003wez.2_Missense_Mutation_p.A603V|CUL1_uc003wfa.2_Missense_Mutation_p.A374V	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	713					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GTTGCATAGGCGGCCATCGTG	0.483													T	148496368	C	T	148496368	3	4	12	1	0	0	0	0	1	0	0	0	4054	782	27	1	2216	1	CUL1	7	148496368	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	4669249	148496368	10642295	576	10584											
ZNF425	155054	broad.mit.edu	37	chr7	148801590	148801590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcaggcgctggtgggcgCgcatggcgttcctccagaag	17	11	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:148801590C>T	uc003wfj.2	-	4	1446	c.1373G>A	c.(1372-1374)CGC>CAC	p.R458H		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	458	C2H2-type 9.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTGGTGGGCGCGCATGGCGTT	0.662													T	148801590	C	T	148801590	3	4	12	1	0	0	0	0	1	0	0	0	17896	768	27	1	889	1	ZNF425	7	148801590	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	305222	148801590	10337073	577	10585											
KCNH2	3757	broad.mit.edu	37	chr7	150656686	150656686	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagccagctggtgggggggCcccggtggttggtgtcatga	19	10	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:150656686C>G	uc003wic.2	-	3	459	c.446G>C	c.(445-447)GGC>GCC	p.G149A	KCNH2_uc011kux.1_Missense_Mutation_p.G53A|KCNH2_uc003wie.2_Missense_Mutation_p.G149A	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	149	Cytoplasmic (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGTGGGGGGGCCCCGGTGGTT	0.582													G	150656686	C	G	150656686	3	3	12	1	0	0	0	0	1	0	0	0	8032	739	26	5	3466	5	KCNH2	7	150656686	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1855096	150656686	8481977	578	10586											
ACCN3	9311	broad.mit.edu	37	chr7	150747697	150747697	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgccagcagcagcaggTacccttccgtgtgcctccac	9	16	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:150747697T>C	uc003win.2	+	3	1181	c.813_splice	c.e3+2	p.Q271_splice	ACCN3_uc003wio.2_Splice_Site_p.Q271_splice|ACCN3_uc003wip.2_Splice_Site_p.Q271_splice|ACCN3_uc003wiq.2_Splice_Site	NM_004769	NP_004760	Q9UHC3	ACCN3_HUMAN	amiloride-sensitive cation channel 3 isoform a						sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGCAGCAGGTACCCTTCCGT	0.612													C	150747697	T	C	150747697	5	2	12	1	0	0	0	0	0	0	1	0	130	1652	57	3	825	3	ACCN3	7	150747697	Splice_Site	SNP	T	TCGA-BR-4257-01A-01D-1126-08	91011	150747697	8390966	579	10587											
GALNT11	63917	broad.mit.edu	37	chr7	151802408	151802408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcataagaaatacaaagcGtgaggggttgattcgaggga	14	4	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:151802408G>A	uc010lqg.1	+	5	895	c.665G>A	c.(664-666)CGT>CAT	p.R222H	GALNT11_uc011kvm.1_Missense_Mutation_p.R141H|GALNT11_uc003wku.2_Missense_Mutation_p.R222H|GALNT11_uc011kvn.1_RNA|GALNT11_uc003wkw.1_5'Flank	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	222	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AATACAAAGCGTGAGGGGTTG	0.433													A	151802408	G	A	151802408	3	1	12	1	0	0	0	0	1	0	0	0	6209	1145	40	1	679	1	GALNT11	7	151802408	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1054711	151802408	7336255	580	10588											
MLL3	58508	broad.mit.edu	37	chr7	151878749	151878749	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataagggtcaacagacaatcGccttgatgcctgtgacactg	10	10	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:151878749G>A	uc003wla.2	-	36	6415	c.6196C>T	c.(6196-6198)CGA>TGA	p.R2066*	MLL3_uc003wkz.2_Nonsense_Mutation_p.R1127*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2066	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACAGACAATCGCCTTGATGCC	0.453			N		medulloblastoma								A	151878749	G	A	151878749	4	1	12	1	0	0	0	0	0	1	0	0	9622	1095	38	1	8635	1	MLL3	7	151878749	Nonsense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	76341	151878749	7259914	581	10589											
PAXIP1	22976	broad.mit.edu	37	chr7	154739611	154739611	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacttttcccttaaagtgtAccttaaagagtggagaaacg	8	7	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:154739611A>G	uc003wlp.2	-	17	2965	c.2922_splice	c.e17+1	p.K974_splice	LOC100132707_uc003wlo.2_RNA|PAXIP1_uc003wlq.1_Splice_Site_p.K940_splice|PAXIP1_uc011kvs.1_Splice_Site_p.K938_splice	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	PAX interacting protein 1						DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CTTAAAGTGTACCTTAAAGAG	0.468													G	154739611	A	G	154739611	5	3	12	1	0	0	0	0	0	0	1	0	11487	405	14	3	305	3	PAXIP1	7	154739611	Splice_Site	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2860862	154739611	4399052	582	10590											
ZNF596	169270	broad.mit.edu	37	chr8	196042	196042	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgccatgtatgtgggaaaGccttcactgaatcttctgac	10	9	3	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:196042G>T	uc003wot.2	+	6	1483	c.1195G>T	c.(1195-1197)GCC>TCC	p.A399S	ZNF596_uc003wou.2_Missense_Mutation_p.A298S|ZNF596_uc003wov.2_Missense_Mutation_p.A399S|ZNF596_uc003wow.2_Missense_Mutation_p.A399S	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	399	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		ATGTGGGAAAGCCTTCACTGA	0.428													T	196042	G	T	196042	3	4	12	1	0	0	0	0	1	0	0	0	18023	971	34	5	1213	5	ZNF596	8	196042	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08		196042	146167980	583	10591											
MYOM2	9172	broad.mit.edu	37	chr8	2088683	2088683	+	Frame_Shift_Del	DEL	G	G	-													ccagtgagcatatgagaatcGgggggagtgaagagatggct					rs34620424	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:2088682_2088682CG>C	uc003wpx.4	+	32	3975	c.3837_3837CG>C	c.(3835-3837)atcfs	p.I1279fs	MYOM2_uc011kwi.2_Frame_Shift_Del_p.I704fs	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1279					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATATGAGAATCGGGGGGAGTG	0.448													-	2088683	G	-	2088683	7	5	12	1	0	1	0	1	0	0	0	0	10092	1116	39	0	3964	0	MYOM2	8	2088683	Frame_Shift_Del	DEL	G	TCGA-BR-4257-01A-01D-1126-08	1892641	2088683	144275339	584	10592											
CSMD1	64478	broad.mit.edu	37	chr8	3019715	3019715	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggctcgcactggaaggagAgcacgtcgttcaccatgtac	13	12	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:3019715A>G	uc011kwk.1	-	38	6203	c.5813T>C	c.(5812-5814)CTC>CCC	p.L1938P	CSMD1_uc011kwj.1_Missense_Mutation_p.L1330P|CSMD1_uc003wqe.2_Missense_Mutation_p.L1094P|CSMD1_uc010lrg.2_Missense_Mutation_p.L6P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1938	Sushi 11.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGGAAGGAGAGCACGTCGTT	0.512													G	3019715	A	G	3019715	3	3	12	1	0	0	0	0	1	0	0	0	3944	304	11	3	5016	3	CSMD1	8	3019715	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	931032	3019715	143344307	585	10593											
SGK223	157285	broad.mit.edu	37	chr8	8185550	8185550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgggaggatgaggcggaGggggcccctttgcactggag	20	8	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:8185550G>A	uc003wsh.3	-	4	2742	c.2742C>T	c.(2740-2742)CCC>CCT	p.P914P		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	914							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						ATGAGGCGGAGGGGGCCCCTT	0.657													A	8185550	G	A	8185550	2	1	12	1	0	0	0	0	0	0	0	1	14210	987	35	4		4	SGK223	8	8185550	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	5165835	8185550	138178472	586	10594											
MFHAS1	9258	broad.mit.edu	37	chr8	8748408	8748408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagacgtgctccttgagagCcggactgtcctcaaagtaga	12	10	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:8748408C>T	uc003wsj.1	-	1	2724	c.2161G>A	c.(2161-2163)GCT>ACT	p.A721T		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	721											0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TCCTTGAGAGCCGGACTGTCC	0.587													T	8748408	C	T	8748408	3	4	12	1	0	0	0	0	1	0	0	0	9521	739	26	2	1009	2	MFHAS1	8	8748408	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	562858	8748408	137615614	587	10595											
ERI1	90459	broad.mit.edu	37	chr8	8869198	8869198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgaagaaggaaacccacCtgagtttgtacatgaaataa	9	6	0	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:8869198C>T	uc011kwu.1	+	3	694	c.434C>T	c.(433-435)CCT>CTT	p.P145L	ERI1_uc003wsk.2_Missense_Mutation_p.P145L	NM_153332	NP_699163	Q8IV48	ERI1_HUMAN	three prime histone mRNA exonuclease 1	145	Exonuclease.				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding				0					Adenosine monophosphate(DB00131)	GGAAACCCACCTGAGTTTGTA	0.323													T	8869198	C	T	8869198	3	4	12	1	0	0	0	0	1	0	0	0	5227	681	24	4	444	4	ERI1	8	8869198	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	120790	8869198	137494824	588	10596											
TNKS	8658	broad.mit.edu	37	chr8	9634228	9634228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcccagaccgcaacagcCgcagagcagaagacctagtg	10	15	0	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:9634228C>T	uc003wss.2	+	27	3971	c.3966C>T	c.(3964-3966)GCC>GCT	p.A1322A	TNKS_uc011kww.1_Silent_p.A1085A	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	1322					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		CCGCAACAGCCGCAGAGCAGA	0.468													T	9634228	C	T	9634228	2	4	12	1	0	0	0	0	0	0	0	1	16316	639	23	1		1	TNKS	8	9634228	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	765030	9634228	136729794	589	10597											
MSRA	4482	broad.mit.edu	37	chr8	10159084	10159084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtccgagtggtgtaccaGccagaacacatgagttttga	12	9	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:10159084G>T	uc003wsx.2	+	4	569	c.372G>T	c.(370-372)CAG>CAT	p.Q124H	MSRA_uc011kwx.1_Missense_Mutation_p.Q84H|MSRA_uc011kwy.1_Missense_Mutation_p.Q81H|MSRA_uc003wsz.2_Missense_Mutation_p.Q81H|MSRA_uc003wsy.2_Missense_Mutation_p.Q58H	NM_012331	NP_036463	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A isoform a	124					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity				0		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	TGGTGTACCAGCCAGAACACA	0.423													T	10159084	G	T	10159084	3	4	12	1	0	0	0	0	1	0	0	0	9887	962	34	5	403	5	MSRA	8	10159084	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	524856	10159084	136204938	590	10598											
RP1L1	94137	broad.mit.edu	37	chr8	10467123	10467124	+	Frame_Shift_Ins	INS	-	-	G													tctctgcagccccctgggtgINSggttgggcctgcgtgtgctc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:10467122_10467123T>TG	uc003wtc.3	-	3	4714_4715	c.4485_4486A>CA	c.(4483-4488)cccaccfs	p.P1495fs		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1495					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCCCCCTGGGTGGGTTGGGCCT	0.644													G	10467124	-	G	10467123	7	5	12	1	0	1	1	0	0	0	0	0	13533	1335	47	0	2721	0	RP1L1	8	10467123	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	308039	10467123	135896899	591	10599											
RP1L1	94137	broad.mit.edu	37	chr8	10468221	10468221	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggagacccaaggtcttcCtcaaataactgcagactggc	10	12	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:10468221C>T	uc003wtc.2	-	4	3616	c.3387G>A	c.(3385-3387)GAG>GAA	p.E1129E		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1129					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CAAGGTCTTCCTCAAATAACT	0.602													T	10468221	C	T	10468221	2	4	12	1	0	0	0	0	0	0	0	1	13533	680	24	4		4	RP1L1	8	10468221	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1098	10468221	135895801	592	10600											
GATA4	2626	broad.mit.edu	37	chr8	11615818	11615818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagacgttctcagtcagtgCgatgtctggccatgggccct	12	12	4	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:11615818C>T	uc003wuc.2	+	7	1717	c.1163C>T	c.(1162-1164)GCG>GTG	p.A388V	GATA4_uc003wub.1_Missense_Mutation_p.A182V|GATA4_uc011kxc.1_Missense_Mutation_p.A389V|uc003wud.1_5'Flank	NM_002052	NP_002043	P43694	GATA4_HUMAN	GATA binding protein 4	388					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		TCAGTCAGTGCGATGTCTGGC	0.617													T	11615818	C	T	11615818	3	4	12	1	0	0	0	0	1	0	0	0	6256	768	27	1	1185	1	GATA4	8	11615818	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1147597	11615818	134748204	593	10601											
DLC1	10395	broad.mit.edu	37	chr8	13357399	13357399	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccatgacagcagtcaggtAgtgaaacacacttctctttg	8	10	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:13357399A>G	uc003wwm.2	-	2	626	c.182T>C	c.(181-183)CTA>CCA	p.L61P	DLC1_uc003wwn.2_Missense_Mutation_p.L61P|DLC1_uc011kxy.1_Missense_Mutation_p.L61P	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	61					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GCAGTCAGGTAGTGAAACACA	0.458													G	13357399	A	G	13357399	3	3	12	1	0	0	0	0	1	0	0	0	4550	420	15	3	4557	3	DLC1	8	13357399	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1741581	13357399	133006623	594	10602											
SLC7A2	6542	broad.mit.edu	37	chr8	17401110	17401110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggctggcctctgctatgccGaatttggggcccgtgttccc	13	13	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:17401110G>A	uc011kyc.1	+	2	431	c.262G>A	c.(262-264)GAA>AAA	p.E88K	SLC7A2_uc011kyd.1_Missense_Mutation_p.E128K|SLC7A2_uc011kye.1_Missense_Mutation_p.E128K|SLC7A2_uc011kyf.1_Missense_Mutation_p.E88K	NM_001008539	NP_001008539	P52569	CTR2_HUMAN	solute carrier family 7, member 2 isoform 2	88	Cytoplasmic (Potential).				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			ovary(2)|skin(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGCTATGCCGAATTTGGGGC	0.587													A	17401110	G	A	17401110	3	1	12	1	0	0	0	0	1	0	0	0	14697	1059	37	1	388	1	SLC7A2	8	17401110	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	4043711	17401110	128962912	595	10603											
KIAA1967	57805	broad.mit.edu	37	chr8	22471699	22471699	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctgagttggctatcagccTtccccctgagccagcccttt	8	15	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:22471699T>G	uc003xch.2	+	9	936	c.799T>G	c.(799-801)TTC>GTC	p.F267V	KIAA1967_uc003xci.2_Missense_Mutation_p.F267V|KIAA1967_uc003xcj.1_5'UTR	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	267					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GCTATCAGCCTTCCCCCTGAG	0.582													G	22471699	T	G	22471699	3	3	12	1	0	0	0	0	1	0	0	0	8265	1609	56	5	829	5	KIAA1967	8	22471699	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	5070589	22471699	123892323	596	10604											
KIAA1967	57805	broad.mit.edu	37	chr8	22473240	22473240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgccttggagcaagcaGcagacacttctagacggaac	11	11	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:22473240G>A	uc003xch.2	+	13	1560	c.1423G>A	c.(1423-1425)GCA>ACA	p.A475T	KIAA1967_uc003xci.2_Missense_Mutation_p.A475T|KIAA1967_uc003xcj.1_Missense_Mutation_p.A144T	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	475					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GGAGCAAGCAGCAGACACTTC	0.572													A	22473240	G	A	22473240	3	1	12	1	0	0	0	0	1	0	0	0	8265	971	34	2	1469	2	KIAA1967	8	22473240	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1541	22473240	123890782	597	10605											
EGR3	1960	broad.mit.edu	37	chr8	22548748	22548748	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacatggcctccacgtcaccCtgcggtggctgcaccatgct	10	16	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:22548748C>A	uc003xcm.1	-	2	760	c.402G>T	c.(400-402)CAG>CAT	p.Q134H	EGR3_uc011kzn.1_Missense_Mutation_p.Q96H|EGR3_uc011kzo.1_Missense_Mutation_p.Q80H	NM_004430	NP_004421	Q06889	EGR3_HUMAN	early growth response 3	134					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CCACGTCACCCTGCGGTGGCT	0.662													A	22548748	C	A	22548748	3	1	12	1	0	0	0	0	1	0	0	0	4973	680	24	5	765	5	EGR3	8	22548748	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	75508	22548748	123815274	598	10606											
RHOBTB2	23221	broad.mit.edu	37	chr8	22868168	22868168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcatcattctagccaacCgcctctgcctgccacacctg	6	18	4	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:22868168C>T	uc003xcq.2	+	7	2275	c.1738C>T	c.(1738-1740)CGC>TGC	p.R580C	RHOBTB2_uc003xcp.2_Missense_Mutation_p.R602C|RHOBTB2_uc011kzp.1_Missense_Mutation_p.R587C|uc003xcr.2_Intron	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	580					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TCTAGCCAACCGCCTCTGCCT	0.597													T	22868168	C	T	22868168	3	4	12	1	0	0	0	0	1	0	0	0	13334	652	23	1	1845	1	RHOBTB2	8	22868168	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	319420	22868168	123495854	599	10607											
LOXL2	4017	broad.mit.edu	37	chr8	23191084	23191084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgggcctctgtgccggTgcagtccatggagaatggcc	16	10	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:23191084T>C	uc003xdh.1	-	5	1135	c.796A>G	c.(796-798)ACC>GCC	p.T266A	uc003xdj.2_5'Flank|uc003xdi.2_5'Flank	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	266	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCTGTGCCGGTGCAGTCCATG	0.617													C	23191084	T	C	23191084	3	2	12	1	0	0	0	0	1	0	0	0	8900	1696	59	3	1568	3	LOXL2	8	23191084	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	322916	23191084	123172938	600	10608											
NEFL	4747	broad.mit.edu	37	chr8	24813138	24813138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtccttggcggcgcgcaCggcgtcggtgttcttggcgg	17	13	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:24813138C>T	uc003xee.2	-	1	994	c.892G>A	c.(892-894)GTG>ATG	p.V298M		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	298	Rod.|Coil 2B.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCGGCGCGCACGGCGTCGGTG	0.617													T	24813138	C	T	24813138	3	4	12	1	0	0	0	0	1	0	0	0	10315	536	19	1	756	1	NEFL	8	24813138	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1622054	24813138	121550884	601	10609											
ADRA1A	148	broad.mit.edu	37	chr8	26721708	26721708	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgggagaacttgaggagcCtcactgagaagtgcgtcttg	14	10	2	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:26721708C>A	uc003xfh.1	-	1	1215	c.779G>T	c.(778-780)AGG>ATG	p.R260M	ADRA1A_uc003xfc.1_Missense_Mutation_p.R260M|ADRA1A_uc010lul.1_Missense_Mutation_p.R260M|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.R260M|ADRA1A_uc010lum.1_Missense_Mutation_p.R260M|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.R260M	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	260	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CTTGAGGAGCCTCACTGAGAA	0.607													A	26721708	C	A	26721708	3	1	12	1	0	0	0	0	1	0	0	0	334	681	24	5	920	5	ADRA1A	8	26721708	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1908570	26721708	119642314	602	10610											
STMN4	81551	broad.mit.edu	37	chr8	27101235	27101235	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttttgtacctaccagcaagGgtcatgtttctgggatctgg	11	8	3	0	rs138378493	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:27101235G>T	uc003xfk.2	-	2	120	c.6C>A	c.(4-6)ACC>ACA	p.T2T	STMN4_uc003xfj.2_Silent_p.T2T|STMN4_uc011lai.1_Silent_p.T2T|STMN4_uc011laj.1_Intron|STMN4_uc011lak.1_Silent_p.T2T|STMN4_uc010luo.2_Silent_p.T2T			Q9H169	STMN4_HUMAN	RecName: Full=Stathmin-4; AltName: Full=Stathmin-like protein B3;          Short=RB3;	2					intracellular signal transduction					large_intestine(1)|pancreas(1)	2		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		TACCAGCAAGGGTCATGTTTC	0.532													T	27101235	G	T	27101235	2	4	12	1	0	0	0	0	0	0	0	1	15310	1219	43	5		5	STMN4	8	27101235	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	379527	27101235	119262787	603	10611											
PTK2B	2185	broad.mit.edu	37	chr8	27296915	27296915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgacgtctggatgttcGgtgagtgctgatttgggagg	17	6	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:27296915G>A	uc003xfn.1	+	25	2642	c.1834G>A	c.(1834-1836)GCC>ACC	p.A612T	PTK2B_uc003xfo.1_Missense_Mutation_p.A612T|PTK2B_uc003xfp.1_Missense_Mutation_p.A612T|PTK2B_uc003xfq.1_Missense_Mutation_p.A612T|PTK2B_uc003xfr.1_Missense_Mutation_p.A358T	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	612	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CTGGATGTTCGGTGAGTGCTG	0.562													A	27296915	G	A	27296915	3	1	12	1	0	0	0	0	1	0	0	0	12763	1130	39	1	1908	1	PTK2B	8	27296915	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	195680	27296915	119067107	604	10612											
C8orf80	389643	broad.mit.edu	37	chr8	27922180	27922180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagatgcgcatctcagcGgcctctccatcccaatctct	8	17	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:27922180G>A	uc003xgm.3	-	7	923	c.780C>T	c.(778-780)GCC>GCT	p.A260A		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	speckled-like pattern in the germinal center	260						nucleus	GTP binding|GTPase activity			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		GCATCTCAGCGGCCTCTCCAT	0.562													A	27922180	G	A	27922180	2	1	12	1	0	0	0	0	0	0	0	1	2439	1103	39	1		1	C8orf80	8	27922180	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	625265	27922180	118441842	605	10613											
C8orf80	389643	broad.mit.edu	37	chr8	27925085	27925085	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggatcttccttttgggcttCgccctcagtaactcctcata	8	13	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:27925085C>T	uc003xgm.3	-	6	800	c.657G>A	c.(655-657)GCG>GCA	p.A219A		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	speckled-like pattern in the germinal center	219						nucleus	GTP binding|GTPase activity			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		TTTTGGGCTTCGCCCTCAGTA	0.502													T	27925085	C	T	27925085	2	4	12	1	0	0	0	0	0	0	0	1	2439	871	31	1		1	C8orf80	8	27925085	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2905	27925085	118438937	606	10614											
KIF13B	23303	broad.mit.edu	37	chr8	29025013	29025013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttggctcgatctgcataCcgcagagttgagagggtttc	13	9	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:29025013C>T	uc003xhh.3	-	11	1094	c.1035G>A	c.(1033-1035)CGG>CGA	p.R345R	KIF13B_uc003xhj.2_Silent_p.R242R|KIF13B_uc010lvf.1_Silent_p.R281R	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	345					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GATCTGCATACCGCAGAGTTG	0.522													T	29025013	C	T	29025013	2	4	12	1	0	0	0	0	0	0	0	1	8275	494	18	4		4	KIF13B	8	29025013	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1099928	29025013	117339009	607	10615											
NRG1	3084	broad.mit.edu	37	chr8	32472059	32472059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactggtatgccagcctcaaCtgaaggagcatatgtgtctt	10	10	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:32472059C>T	uc003xiv.2	+	4	945	c.428C>T	c.(427-429)ACT>ATT	p.T143I	NRG1_uc003xip.2_Intron|NRG1_uc003xir.2_Missense_Mutation_p.T143I|NRG1_uc010lvl.2_Missense_Mutation_p.T143I|NRG1_uc010lvm.2_Intron|NRG1_uc010lvn.2_Intron|NRG1_uc003xis.2_Missense_Mutation_p.T143I|NRG1_uc011lbf.1_Missense_Mutation_p.T143I|NRG1_uc010lvo.2_Missense_Mutation_p.T143I|NRG1_uc003xiu.2_Missense_Mutation_p.T143I|NRG1_uc003xiw.2_Missense_Mutation_p.T143I|NRG1_uc003xit.2_Missense_Mutation_p.T143I|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_Intron|NRG1_uc010lvp.2_Missense_Mutation_p.T109I|NRG1_uc010lvq.2_Intron|NRG1_uc003xix.2_Missense_Mutation_p.T33I	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	143	Extracellular (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCAGCCTCAACTGAAGGAGCA	0.438													T	32472059	C	T	32472059	3	4	12	1	0	0	0	0	1	0	0	0	10647	565	20	4	1193	4	NRG1	8	32472059	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3447046	32472059	113891963	608	10616											
PROSC	11212	broad.mit.edu	37	chr8	37632909	37632909	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatcgtggagcacataaaCgccaagtgtcctaacctgga	10	12	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:37632909C>T	uc003xkh.2	+	6	584	c.507C>T	c.(505-507)AAC>AAT	p.N169N		NM_007198	NP_009129	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog	169							pyridoxal phosphate binding			central_nervous_system(1)	1		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	AGCACATAAACGCCAAGTGTC	0.483													T	37632909	C	T	37632909	2	4	12	1	0	0	0	0	0	0	0	1	12559	535	19	1		1	PROSC	8	37632909	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	5160850	37632909	108731113	609	10617											
ADAM9	8754	broad.mit.edu	37	chr8	38912036	38912036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgcgaaggaagtaccTgtaagcttaaatcatttgct	9	8	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:38912036T>C	uc003xmr.2	+	13	1417	c.1339T>C	c.(1339-1341)TGT>CGT	p.C447R	ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xms.2_5'Flank	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9 isoform 1	447	Extracellular (Potential).|Disintegrin.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AGGAAGTACCTGTAAGCTTAA	0.343													C	38912036	T	C	38912036	3	2	12	1	0	0	0	0	1	0	0	0	253	1580	55	3	1389	3	ADAM9	8	38912036	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1279127	38912036	107451986	610	10618											
IDO2	169355	broad.mit.edu	37	chr8	39872860	39872860	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttccctgagggactacatCctgtcatctggacaggacca	9	14	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:39872860C>T	uc010lwy.1	+	11	1244	c.1002C>T	c.(1000-1002)ATC>ATT	p.I334I	IDO2_uc003xno.1_RNA|IDO2_uc010lwz.1_Silent_p.I75I|IDO2_uc003xnp.1_Silent_p.I75I	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	indoleamine-pyrrole 2,3 dioxygenase-like 1	321					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			ovary(2)	2						GGGACTACATCCTGTCATCTG	0.507													T	39872860	C	T	39872860	2	4	12	1	0	0	0	0	0	0	0	1	7502	845	30	4		4	IDO2	8	39872860	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	960824	39872860	106491162	611	10619											
MYST3	7994	broad.mit.edu	37	chr8	41798536	41798536	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgcacttcagagcctcagGgcttttcttgagctgtcctc	9	13	4	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:41798536G>T	uc010lxb.2	-	16	3407	c.2863C>A	c.(2863-2865)CCT>ACT	p.P955T	MYST3_uc010lxc.2_Missense_Mutation_p.P955T|MYST3_uc003xon.3_Missense_Mutation_p.P955T	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	955					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			AGAGCCTCAGGGCTTTTCTTG	0.587													T	41798536	G	T	41798536	3	4	12	1	0	0	0	0	1	0	0	0	10104	1232	43	5	3163	5	MYST3	8	41798536	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1925676	41798536	104565486	612	10620											
CHRNB3	1142	broad.mit.edu	37	chr8	42587571	42587571	+	Frame_Shift_Del	DEL	A	A	-													agtgaaaggcaaagtcctcgAaaaaaagaaacagaaacagc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:42587570_42587570GA>G	uc003xpi.1	+	4	1248	c.1120_1120GA>G	c.(1120-1122)gaafs	p.E374fs		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	374					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CAAAGTCCTCGAAAAAAAGAA	0.388													-	42587571	A	-	42587571	7	5	12	1	0	1	0	1	0	0	0	0	3392	246	9	0	1139	0	CHRNB3	8	42587571	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	789035	42587571	103776451	613	10621											
THAP1	55145	broad.mit.edu	37	chr8	42694398	42694399	+	Frame_Shift_Del	DEL	CT	CT	-													ttcagtaacttgttgttgcaCtctctcttaaagcagtctgg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:42694397_42694398ACT>A	uc003xpk.3	-	1	435_436	c.198_199AGT>T	c.(196-201)gagtgcfs	p.E66fs	THAP1_uc003xpl.3_Intron	NM_018105	NP_060575	Q9NVV9	THAP1_HUMAN	Homo sapiens THAP domain containing, apoptosis associated protein 1 (THAP1), transcript variant 1, mRNA.	66					cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TTGTTGTTGCACTCTCTCTTAA	0.381													-	42694399	CT	-	42694398	7	5	12	1	0	1	0	1	0	0	0	0	15838	564	20	0	451	0	THAP1	8	42694398	Frame_Shift_Del	DEL	CT	TCGA-BR-4257-01A-01D-1126-08	106827	42694398	103669624	614	10622											
POTEA	340441	broad.mit.edu	37	chr8	43173622	43173622	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaaatgcagaagcaTggaagtaataatgtgggatt	13	2	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:43173622T>C	uc003xpz.1	+	9	1087	c.1044T>C	c.(1042-1044)CAT>CAC	p.H348H	POTEA_uc003xqa.1_Silent_p.H302H	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	348										ovary(1)	1						TGCAGAAGCATGGAAGTAATA	0.358													C	43173622	T	C	43173622	2	2	12	1	0	0	0	0	0	0	0	1	12261	1461	51	3		3	POTEA	8	43173622	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	479224	43173622	103190400	615	10623											
PRKDC	5591	broad.mit.edu	37	chr8	48809839	48809839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaataaacacaatgatgcGgaaggtggaaatcctctgca	9	9	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:48809839G>A	uc003xqi.2	-	30	3537	c.3480C>T	c.(3478-3480)TCC>TCT	p.S1160S	PRKDC_uc003xqj.2_Silent_p.S1160S|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1160					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACAATGATGCGGAAGGTGGAA	0.428								NHEJ					A	48809839	G	A	48809839	2	1	12	1	0	0	0	0	0	0	0	1	12521	1103	39	1		1	PRKDC	8	48809839	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	5636217	48809839	97554183	616	10624											
MCM4	4173	broad.mit.edu	37	chr8	48888298	48888298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtgccacctctcgtaaaCggaaagaagaattagctgaa	10	8	1	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:48888298C>T	uc003xqk.1	+	16	2484	c.2389C>T	c.(2389-2391)CGG>TGG	p.R797W	MCM4_uc003xql.1_Missense_Mutation_p.R797W|MCM4_uc011ldi.1_Missense_Mutation_p.R784W	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	797					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CTCTCGTAAACGGAAAGAAGA	0.328													T	48888298	C	T	48888298	3	4	12	1	0	0	0	0	1	0	0	0	9389	527	19	1	2447	1	MCM4	8	48888298	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	78459	48888298	97475724	617	10625											
ST18	9705	broad.mit.edu	37	chr8	53055565	53055565	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagaggcctctccaggaaacTttttttcctctaaattttct	5	10	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:53055565T>A	uc003xqz.2	-	12	2249	c.2093A>T	c.(2092-2094)AAG>ATG	p.K698M	ST18_uc011ldq.1_Missense_Mutation_p.K345M|ST18_uc011ldr.1_Missense_Mutation_p.K663M|ST18_uc011lds.1_Missense_Mutation_p.K603M|ST18_uc003xra.2_Missense_Mutation_p.K698M	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	698						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCCAGGAAACTTTTTTTCCTC	0.408													A	53055565	T	A	53055565	3	1	12	1	0	0	0	0	1	0	0	0	15211	1609	56	5	1090	5	ST18	8	53055565	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	4167267	53055565	93308457	618	10626											
FAM110B	90362	broad.mit.edu	37	chr8	59059757	59059757	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agactgtgaacagtctcaggAcagtaacagtgaccttagaa	10	8	1	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:59059757A>G	uc003xtj.1	+	5	1848	c.968A>G	c.(967-969)GAC>GGC	p.D323G		NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	323						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CAGTCTCAGGACAGTAACAGT	0.448													G	59059757	A	G	59059757	3	3	12	1	0	0	0	0	1	0	0	0	5397	275	10	3	970	3	FAM110B	8	59059757	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	6004192	59059757	87304265	619	10627											
ARFGEF1	10565	broad.mit.edu	37	chr8	68189648	68189648	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accatcctctatagttccaaTgttgccatctgcacttgcat	5	13	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:68189648T>C	uc003xxo.1	-	8	1462	c.1072A>G	c.(1072-1074)ATT>GTT	p.I358V		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	358					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATAGTTCCAATGTTGCCATCT	0.358													C	68189648	T	C	68189648	3	2	12	1	0	0	0	0	1	0	0	0	852	1464	51	3	4605	3	ARFGEF1	8	68189648	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	9129891	68189648	78174374	620	10628											
SULF1	23213	broad.mit.edu	37	chr8	70488249	70488249	+	Frame_Shift_Del	DEL	G	G	-													cgagaaagattatggaacatGggggggccaccttcatcaat							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:70488248_70488248TG>T	uc003xyg.2	+	4	777	c.216_216TG>T	c.(214-216)catfs	p.H72fs	SULF1_uc010lza.1_Frame_Shift_Del_p.H72fs|SULF1_uc003xyd.2_Frame_Shift_Del_p.H72fs|SULF1_uc003xye.2_Frame_Shift_Del_p.H72fs|SULF1_uc003xyf.2_Frame_Shift_Del_p.H72fs	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	72					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTATGGAACATGGGGGGGCCA	0.498													-	70488249	G	-	70488249	7	5	12	1	0	1	0	1	0	0	0	0	15369	1348	47	0	223	0	SULF1	8	70488249	Frame_Shift_Del	DEL	G	TCGA-BR-4257-01A-01D-1126-08	2298601	70488249	75875773	621	10629											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744031	70744031	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaggagttttctttcttgAcattgtcatctaagtaggtt	10	5	4	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:70744031A>G	uc003xyl.2	-	2	1585	c.878T>C	c.(877-879)GTC>GCC	p.V293A	SLCO5A1_uc010lzb.2_Missense_Mutation_p.V293A|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.V293A|SLCO5A1_uc010lzc.2_Missense_Mutation_p.V293A	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	293	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TTCTTTCTTGACATTGTCATC	0.413													G	70744031	A	G	70744031	3	3	12	1	0	0	0	0	1	0	0	0	14731	275	10	3	1704	3	SLCO5A1	8	70744031	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	255782	70744031	75619991	622	10630											
ZFHX4	79776	broad.mit.edu	37	chr8	77617605	77617605	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctgtctccctcagccacTcatcgtctgagtctagcaag	7	16	6	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:77617605T>C	uc003yav.2	+	2	1669	c.1282T>C	c.(1282-1284)TCA>CCA	p.S428P	ZFHX4_uc003yat.1_Missense_Mutation_p.S428P|ZFHX4_uc003yau.1_Missense_Mutation_p.S428P|ZFHX4_uc003yaw.1_Missense_Mutation_p.S428P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	428						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTCAGCCACTCATCGTCTGA	0.507										HNSCC(33;0.089)			C	77617605	T	C	77617605	3	2	12	1	0	0	0	0	1	0	0	0	17632	1551	54	3	1284	3	ZFHX4	8	77617605	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	6873574	77617605	68746417	623	10631											
FAM164A	51101	broad.mit.edu	37	chr8	79590866	79590866	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acttttgattcaagcagacaGagagctgaaggaactgatat	10	6	1	5			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:79590866G>T	uc003ybd.2	+	3	264	c.162G>T	c.(160-162)CAG>CAT	p.Q54H		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	hypothetical protein LOC51101	54										ovary(1)	1						CAAGCAGACAGAGAGCTGAAG	0.363													T	79590866	G	T	79590866	3	4	12	1	0	0	0	0	1	0	0	0	5478	933	33	5	172	5	FAM164A	8	79590866	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1973261	79590866	66773156	624	10632											
PAG1	55824	broad.mit.edu	37	chr8	81897170	81897170	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggatactctctacattaacActttgacgacattttttgtt	5	8	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:81897170A>G	uc003ybz.2	-	7	1428	c.717T>C	c.(715-717)AGT>AGC	p.S239S		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid	239	Cytoplasmic (Potential).				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity				0	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			CTACATTAACACTTTGACGAC	0.483													G	81897170	A	G	81897170	2	3	12	1	0	0	0	0	0	0	0	1	11388	156	6	3		3	PAG1	8	81897170	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2306304	81897170	64466852	625	10633											
ESRP1	54845	broad.mit.edu	37	chr8	95680236	95680236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaagtcattgtccgcatgCgggggctccctttcacggcc	11	14	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:95680236C>T	uc003ygq.3	+	10	1174	c.991C>T	c.(991-993)CGG>TGG	p.R331W	ESRP1_uc003ygr.3_Missense_Mutation_p.R331W|ESRP1_uc003ygs.3_Missense_Mutation_p.R331W|ESRP1_uc003ygt.3_Missense_Mutation_p.R331W|ESRP1_uc003ygu.3_Missense_Mutation_p.R331W|ESRP1_uc003ygv.2_Missense_Mutation_p.R171W|ESRP1_uc003ygw.2_Missense_Mutation_p.R171W	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	331	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						TGTCCGCATGCGGGGGCTCCC	0.488													T	95680236	C	T	95680236	3	4	12	1	0	0	0	0	1	0	0	0	5258	759	27	1	1029	1	ESRP1	8	95680236	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	13783066	95680236	50683786	626	10634											
LAPTM4B	55353	broad.mit.edu	37	chr8	98827611	98827611	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctgatatgtgctatggcTacttacggagcgtacaaggt	11	8	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:98827611T>C	uc003yia.2	+	3	696	c.540T>C	c.(538-540)GCT>GCC	p.A180A	LAPTM4B_uc010mbg.2_Intron	NM_018407	NP_060877	Q86VI4	LAP4B_HUMAN	lysosomal associated transmembrane protein 4	233	Helical; (Potential).				transport	endomembrane system|integral to membrane	protein binding			skin(1)	1	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			GTGCTATGGCTACTTACGGAG	0.413													C	98827611	T	C	98827611	2	2	12	1	0	0	0	0	0	0	0	1	8625	1509	53	3		3	LAPTM4B	8	98827611	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	3147375	98827611	47536411	627	10635											
MATN2	4147	broad.mit.edu	37	chr8	98943434	98943434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgcggcatctgtccacGggcaccatgactgggctggc	15	12	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:98943434G>A	uc003yic.2	+	3	627	c.396G>A	c.(394-396)ACG>ACA	p.T132T	MATN2_uc003yib.1_Silent_p.T132T|MATN2_uc010mbh.1_Silent_p.T132T|MATN2_uc003yid.2_Silent_p.T132T|MATN2_uc003yie.1_Silent_p.T132T|MATN2_uc010mbi.1_Silent_p.T6T	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	132	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			ATCTGTCCACGGGCACCATGA	0.572													A	98943434	G	A	98943434	2	1	12	1	0	0	0	0	0	0	0	1	9334	1103	39	1		1	MATN2	8	98943434	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	115823	98943434	47420588	628	10636											
VPS13B	157680	broad.mit.edu	37	chr8	100844800	100844800	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacagtgctggagcctgccAgctatagttagaccagagtt	11	10	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:100844800A>G	uc003yiv.2	+	52	9720	c.9609A>G	c.(9607-9609)CCA>CCG	p.P3203P	VPS13B_uc003yiw.2_Silent_p.P3178P	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3203					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGAGCCTGCCAGCTATAGTTA	0.488													G	100844800	A	G	100844800	2	3	12	1	0	0	0	0	0	0	0	1	17187	175	7	3		3	VPS13B	8	100844800	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1901366	100844800	45519222	629	10637											
SPAG1	6674	broad.mit.edu	37	chr8	101243518	101243518	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccatatatacaaacaggCaagttctttgtaactttata	6	7	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:101243518C>T	uc003yjh.1	+	15	2074	c.1988_splice	c.e15+2	p.R663_splice	SPAG1_uc003yji.1_Splice_Site_p.R663_splice	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1						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)		TACAAACAGGCAAGTTCTTTG	0.219													T	101243518	C	T	101243518	5	4	12	1	0	0	0	0	0	0	1	0	14975	724	25	2	2044	2	SPAG1	8	101243518	Splice_Site	SNP	C	TCGA-BR-4257-01A-01D-1126-08	398718	101243518	45120504	630	10638											
UBR5	51366	broad.mit.edu	37	chr8	103297968	103297968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgatggtaccactccggcGtaagtttgaaggatcaatat	10	8	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:103297968G>A	uc003ykr.1	-	39	5290	c.5257C>T	c.(5257-5259)CGC>TGC	p.R1753C	UBR5_uc003yks.1_Missense_Mutation_p.R1753C	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1753					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCACTCCGGCGTAAGTTTGAA	0.453													A	103297968	G	A	103297968	3	1	12	1	0	0	0	0	1	0	0	0	16902	1145	40	1	3226	1	UBR5	8	103297968	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2054450	103297968	43066054	631	10639											
RIMS2	9699	broad.mit.edu	37	chr8	104898242	104898242	+	Frame_Shift_Del	DEL	A	A	-													tgtaagaaaaacaaaacgggAaaaaatggaaacaatgttaa							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:104898241_104898241GA>G	uc003yls.3	+	1	989	c.748_748GA>G	c.(748-750)gaafs	p.E250fs	RIMS2_uc003ylp.3_Frame_Shift_Del_p.E472fs|RIMS2_uc003ylw.2_Frame_Shift_Del_p.E280fs|RIMS2_uc003ylq.3_Frame_Shift_Del_p.E280fs|RIMS2_uc003ylr.3_Frame_Shift_Del_p.E280fs	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	503					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.L249P(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AACAAAACGGGAAAAAATGGA	0.448										HNSCC(12;0.0054)			-	104898242	A	-	104898242	7	5	12	1	0	1	0	1	0	0	0	0	13368	246	9	0	1555	0	RIMS2	8	104898242	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	1600274	104898242	41465780	632	10640											
NUDCD1	84955	broad.mit.edu	37	chr8	110255326	110255326	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctgaaatcctaaaataGgatcattggtttctaggctt	8	7	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:110255326G>T	uc003ynb.3	-	10	1775	c.1664C>A	c.(1663-1665)CCT>CAT	p.P555H	NUDCD1_uc003yna.2_Missense_Mutation_p.P526H|NUDCD1_uc010mcl.2_Missense_Mutation_p.P468H	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	NudC domain containing 1 isoform 1	555										ovary(1)|breast(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TCCTAAAATAGGATCATTGGT	0.368													T	110255326	G	T	110255326	3	4	12	1	0	0	0	0	1	0	0	0	10722	1000	35	5	91	5	NUDCD1	8	110255326	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	5357084	110255326	36108696	633	10641											
CSMD3	114788	broad.mit.edu	37	chr8	113326150	113326150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catacctatatatcttatccGgaagccttttttgttattgc	5	9	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:113326150G>A	uc003ynu.2	-	49	7840	c.7681C>T	c.(7681-7683)CGG>TGG	p.R2561W	CSMD3_uc003yns.2_Missense_Mutation_p.R1763W|CSMD3_uc003ynt.2_Missense_Mutation_p.R2521W|CSMD3_uc011lhx.1_Missense_Mutation_p.R2457W|CSMD3_uc003ynw.1_Missense_Mutation_p.R272W	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2561	CUB 14.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TATCTTATCCGGAAGCCTTTT	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113326150	G	A	113326150	3	1	12	1	0	0	0	0	1	0	0	0	3946	1115	39	1	3534	1	CSMD3	8	113326150	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	3070824	113326150	33037872	634	10642											
CSMD3	114788	broad.mit.edu	37	chr8	113988066	113988066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaaaataacatccaatacCtctatgagtaacaactgcaa	4	9	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:113988066C>T	uc003ynu.2	-	7	1501	c.1342G>A	c.(1342-1344)GTG>ATG	p.V448M	CSMD3_uc003ynt.2_Missense_Mutation_p.V408M|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	448	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CATCCAATACCTCTATGAGTA	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113988066	C	T	113988066	3	4	12	1	0	0	0	0	1	0	0	0	3946	695	24	4	10041	4	CSMD3	8	113988066	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	661916	113988066	32375956	635	10643											
CSMD3	114788	broad.mit.edu	37	chr8	114448937	114448937	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacaccgtcaataaaaagacGaggttccaaaacgtaaatcc	7	10	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:114448937G>A	uc003ynu.2	-	1	306	c.147C>T	c.(145-147)CTC>CTT	p.L49L	CSMD3_uc011lhx.1_Silent_p.L49L|CSMD3_uc010mcx.1_Silent_p.L49L|CSMD3_uc003ynx.3_Silent_p.L49L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	49	Helical; (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ATAAAAAGACGAGGTTCCAAA	0.507										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	114448937	G	A	114448937	2	1	12	1	0	0	0	0	0	0	0	1	3946	1045	37	1		1	CSMD3	8	114448937	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	460871	114448937	31915085	636	10644											
EXT1	2131	broad.mit.edu	37	chr8	118819559	118819559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccagaagtggctgcgcgCggggtaccccacaatcctct	11	15	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:118819559C>T	uc003yok.1	-	9	2553	c.1780G>A	c.(1780-1782)GCG>ACG	p.A594T		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	594	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGGCTGCGCGCGGGGTACCCC	0.522			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				T	118819559	C	T	118819559	3	4	12	1	0	0	0	0	1	0	0	0	5323	768	27	1	472	1	EXT1	8	118819559	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	4370622	118819559	27544463	637	10645											
ENPP2	5168	broad.mit.edu	37	chr8	120596014	120596014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcactttagtcttgtactTaaatgttgagccataaccta	7	8	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:120596014T>C	uc003yot.1	-	17	1572	c.1486A>G	c.(1486-1488)AAG>GAG	p.K496E	ENPP2_uc011lic.1_Missense_Mutation_p.K13E|ENPP2_uc003yor.1_Missense_Mutation_p.K135E|ENPP2_uc003yos.1_Missense_Mutation_p.K548E|ENPP2_uc010mdd.1_Missense_Mutation_p.K496E	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	autotaxin isoform 2 preproprotein	496					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTCTTGTACTTAAATGTTGAG	0.318													C	120596014	T	C	120596014	3	2	12	1	0	0	0	0	1	0	0	0	5130	1763	61	3	1220	3	ENPP2	8	120596014	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1776455	120596014	25768008	638	10646											
DSCC1	79075	broad.mit.edu	37	chr8	120854138	120854138	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcattctgaagtagcattcGtgctgctgctctacatattt	8	10	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:120854138G>A	uc003yov.2	-	7	955	c.820C>T	c.(820-822)CGA>TGA	p.R274*		NM_024094	NP_076999	Q9BVC3	DCC1_HUMAN	defective in sister chromatid cohesion 1	274					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			pancreas(1)	1	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGTAGCATTCGTGCTGCTGCT	0.368													A	120854138	G	A	120854138	4	1	12	1	0	0	0	0	0	1	0	0	4770	1153	40	1	373	1	DSCC1	8	120854138	Nonsense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	258124	120854138	25509884	639	10647											
COL14A1	7373	broad.mit.edu	37	chr8	121282285	121282285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcttcagtatgtaaggcgGccaaggctgacctggtattt	13	8	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:121282285G>A	uc003yox.2	+	26	3350	c.3085G>A	c.(3085-3087)GCC>ACC	p.A1029T	COL14A1_uc003yoz.2_5'UTR	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1029					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATGTAAGGCGGCCAAGGCTGA	0.408													A	121282285	G	A	121282285	3	1	12	1	0	0	0	0	1	0	0	0	3671	1203	42	2	3183	2	COL14A1	8	121282285	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	428147	121282285	25081737	640	10648											
ZHX1	11244	broad.mit.edu	37	chr8	124267220	124267220	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgatctgttcctctgtatAttttgcttgagcagaaagaa	8	7	2	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:124267220A>G	uc003yqe.2	-	3	1397	c.967T>C	c.(967-969)TAT>CAT	p.Y323H	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.Y323H|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.Y323H	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	323	Required for dimerization.|Homeobox 1.|Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TCCTCTGTATATTTTGCTTGA	0.398													G	124267220	A	G	124267220	3	3	12	1	0	0	0	0	1	0	0	0	17672	449	16	3	1658	3	ZHX1	8	124267220	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2984935	124267220	22096802	641	10649											
ATAD2	29028	broad.mit.edu	37	chr8	124383982	124383982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctaatcctacaacttcgaCgcacttcaacatcaccatta	2	14	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:124383982C>T	uc003yqh.3	-	4	572	c.464G>A	c.(463-465)CGT>CAT	p.R155H	ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.R155H	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ACAACTTCGACGCACTTCAAC	0.373													T	124383982	C	T	124383982	3	4	12	1	0	0	0	0	1	0	0	0	1071	536	19	1	3808	1	ATAD2	8	124383982	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	116762	124383982	21980040	642	10650											
NDUFB9	4715	broad.mit.edu	37	chr8	125559294	125559294	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgagaaggcaatgtatccTgattactttgccaagagaga	10	7	1	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:125559294T>G	uc003yrg.3	+	3	433	c.348T>G	c.(346-348)CCT>CCG	p.P116P	NDUFB9_uc011lim.1_Silent_p.P116P	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	116					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			ovary(1)|skin(1)	2	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	CAATGTATCCTGATTACTTTG	0.463													G	125559294	T	G	125559294	2	3	12	1	0	0	0	0	0	0	0	1	10288	1567	55	5		5	NDUFB9	8	125559294	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1175312	125559294	20804728	643	10651											
KIAA0196	9897	broad.mit.edu	37	chr8	126062902	126062902	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttccagcaactgctttggAtccacctaagtgccaatcaa	6	13	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:126062902A>G	uc003yrt.2	-	18	2432	c.2103T>C	c.(2101-2103)GAT>GAC	p.D701D	KIAA0196_uc011lir.1_Silent_p.D553D|KIAA0196_uc003yru.1_Silent_p.D275D	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	701					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ACTGCTTTGGATCCACCTAAG	0.453													G	126062902	A	G	126062902	2	3	12	1	0	0	0	0	0	0	0	1	8161	330	12	3		3	KIAA0196	8	126062902	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	503608	126062902	20301120	644	10652											
MYC	4609	broad.mit.edu	37	chr8	128753073	128753073	+	Frame_Shift_Del	DEL	A	A	-													cccccaaggtagttatccttAaaaaagccacagcatacatc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:128753072_128753072TA>T	uc003ysi.3	+	2	1758	c.1233_1233TA>T	c.(1231-1233)cttfs	p.L411fs		NM_002467	NP_002458	P01106	MYC_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.	396					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		TAGTTATCCTTAAAAAAGCCA	0.488		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"								-	128753073	A	-	128753073	7	5	12	1	0	1	0	1	0	0	0	0	10016	363	13	0	1244	0	MYC	8	128753073	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	2690171	128753073	17610949	645	10653											
FAM49B	51571	broad.mit.edu	37	chr8	130863080	130863080	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagatcagctgatactcaCggtgtttccagcatgactct	8	10	3	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:130863080C>T	uc003yss.2	-	12	1262	c.713_splice	c.e12+1	p.P238_splice	FAM49B_uc003yst.2_Splice_Site_p.P238_splice|FAM49B_uc003ysu.2_Splice_Site_p.P238_splice|FAM49B_uc003ysv.2_Splice_Site_p.P92_splice|FAM49B_uc003ysw.2_Splice_Site_p.P238_splice|FAM49B_uc003ysx.2_Splice_Site_p.P238_splice|FAM49B_uc003ysy.1_Splice_Site_p.P238_splice	NM_016623	NP_057707	Q9NUQ9	FA49B_HUMAN	hypothetical protein LOC51571												0	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			CTGATACTCACGGTGTTTCCA	0.328													T	130863080	C	T	130863080	5	4	12	1	0	0	0	0	0	0	1	0	5576	550	19	1	276	1	FAM49B	8	130863080	Splice_Site	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2110007	130863080	15500942	646	10654											
KCNQ3	3786	broad.mit.edu	37	chr8	133141659	133141659	+	Frame_Shift_Del	DEL	C	C	-													ttctccctcatccagctcgaCcccccattggggccgaacac							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:133141659delC	uc003ytj.2	-	15	2694	c.2469delG	c.(2467-2469)GGGfs	p.G823fs	KCNQ3_uc010mdt.2_Frame_Shift_Del_p.G811fs|uc003yti.2_5'Flank	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	823					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCCAGCTCGACCCCCCATTGG	0.612													-	133141659	C	-	133141659	7	5	12	1	0	1	0	1	0	0	0	0	8084	494	18	0	153	0	KCNQ3	8	133141659	Frame_Shift_Del	DEL	C	TCGA-BR-4257-01A-01D-1126-08	2278579	133141659	13222363	647	10655											
TG	7038	broad.mit.edu	37	chr8	133913747	133913747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtgtgtcatggacagcGgagaagaggtgcctgggacg	19	7	1	2	rs138469414	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:133913747G>A	uc003ytw.2	+	16	3624	c.3583G>A	c.(3583-3585)GGA>AGA	p.G1195R	TG_uc010mdw.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1195	Thyroglobulin type-1 10.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CATGGACAGCGGAGAAGAGGT	0.647													A	133913747	G	A	133913747	3	1	12	1	0	0	0	0	1	0	0	0	15810	1117	39	1	3645	1	TG	8	133913747	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	772088	133913747	12450275	648	10656											
ST3GAL1	6482	broad.mit.edu	37	chr8	134488056	134488056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctctcatcgaaccaggccGagagcttgcgctgcccgatg	11	15	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:134488056G>A	uc003yuk.2	-	5	1041	c.212C>T	c.(211-213)TCG>TTG	p.S71L	ST3GAL1_uc003yum.2_Missense_Mutation_p.S71L	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	71	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GAACCAGGCCGAGAGCTTGCG	0.607													A	134488056	G	A	134488056	3	1	12	1	0	0	0	0	1	0	0	0	15213	1059	37	1	834	1	ST3GAL1	8	134488056	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	574309	134488056	11875966	649	10657											
ZFAT	57623	broad.mit.edu	37	chr8	135614560	135614560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagcctgatggagctgaCgaacttcttgcggcagacgg	15	11	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:135614560C>T	uc003yup.2	-	6	1577	c.1402G>A	c.(1402-1404)GTC>ATC	p.V468I	ZFAT_uc003yun.2_Missense_Mutation_p.V456I|ZFAT_uc003yuo.2_Missense_Mutation_p.V456I|ZFAT_uc010meh.2_Missense_Mutation_p.V456I|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.V456I|ZFAT_uc010mej.2_Missense_Mutation_p.V406I|ZFAT_uc003yur.2_Missense_Mutation_p.V456I	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	468	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ATGGAGCTGACGAACTTCTTG	0.602													T	135614560	C	T	135614560	3	4	12	1	0	0	0	0	1	0	0	0	17629	536	19	1	2373	1	ZFAT	8	135614560	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1126504	135614560	10749462	650	10658											
KCNK9	51305	broad.mit.edu	37	chr8	140715158	140715158	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtccgactcgagggcgtcGaacacggcggcgcccaccag	15	15	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:140715158G>A	uc003yvf.1	-	1	142	c.78C>T	c.(76-78)TTC>TTT	p.F26F	KCNK9_uc003yvg.1_Silent_p.F26F	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	26	Helical; (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CGAGGGCGTCGAACACGGCGG	0.627													A	140715158	G	A	140715158	2	1	12	1	0	0	0	0	0	0	0	1	8072	1049	37	1		1	KCNK9	8	140715158	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	5100598	140715158	5648864	651	10659											
PTP4A3	11156	broad.mit.edu	37	chr8	142441050	142441050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgcggagccatcaacaGcaagcagctcacctacctgg	11	16	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:142441050G>A	uc003ywg.1	+	5	762	c.428G>A	c.(427-429)AGC>AAC	p.S143N	PTP4A3_uc003ywh.1_Missense_Mutation_p.S118N|PTP4A3_uc010met.1_Missense_Mutation_p.A57T	NM_032611	NP_116000	O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	143	Tyrosine-protein phosphatase.					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			GCCATCAACAGCAAGCAGCTC	0.592													A	142441050	G	A	142441050	3	1	12	1	0	0	0	0	1	0	0	0	12772	971	34	2	446	2	PTP4A3	8	142441050	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1725892	142441050	3922972	652	10660											
ZC3H3	23144	broad.mit.edu	37	chr8	144547949	144547949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctcggccttgcgggacaCgtacacgtggctatagggac	14	12	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:144547949C>T	uc003yyd.2	-	9	2274	c.2245G>A	c.(2245-2247)GTG>ATG	p.V749M		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	749	C3H1-type 3.				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TTGCGGGACACGTACACGTGG	0.637													T	144547949	C	T	144547949	3	4	12	1	0	0	0	0	1	0	0	0	17566	536	19	1	617	1	ZC3H3	8	144547949	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2106899	144547949	1816073	653	10661											
ZNF707	286075	broad.mit.edu	37	chr8	144776046	144776046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccgtgtcaggtgctcacGcagcgttgtgggcggcggcc	16	13	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:144776046G>A	uc003yze.3	+	7	777	c.462G>A	c.(460-462)ACG>ACA	p.T154T	ZNF707_uc010mfh.2_Silent_p.T154T|ZNF707_uc010mfi.2_Silent_p.T154T|ZNF707_uc003yzf.3_Silent_p.T154T|ZNF707_uc003yzh.3_Silent_p.T81T|ZNF707_uc011lkq.1_RNA	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	zinc finger protein 707	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGTGCTCACGCAGCGTTGTG	0.672													A	144776046	G	A	144776046	2	1	12	1	0	0	0	0	0	0	0	1	18108	1074	38	1		1	ZNF707	8	144776046	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	228097	144776046	1587976	654	10662											
SPATC1	375686	broad.mit.edu	37	chr8	145101719	145101719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctggcggcgtctgagggCggcccctacaccgtggactt	16	13	1	1	rs149191984	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:145101719C>T	uc011lkw.1	+	5	1740	c.1638C>T	c.(1636-1638)GGC>GGT	p.G546G	SPATC1_uc011lkx.1_3'UTR	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	546										ovary(1)|central_nervous_system(1)	2	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGTCTGAGGGCGGCCCCTACA	0.697													T	145101719	C	T	145101719	2	4	12	1	0	0	0	0	0	0	0	1	15016	755	27	1		1	SPATC1	8	145101719	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	325673	145101719	1262303	655	10663											
FBXL6	26233	broad.mit.edu	37	chr8	145580725	145580725	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagagcgtcagcagtcacAccgtggcagccggagagctt	13	13	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:145580725A>G	uc003zcb.2	-	4	721	c.696T>C	c.(694-696)GGT>GGC	p.G232G	C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_5'UTR|FBXL6_uc003zca.2_Silent_p.G226G|FBXL6_uc010mfx.2_5'UTR|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6 isoform	232	LRR 3.				proteolysis		ubiquitin-protein ligase activity			ovary(1)|lung(1)	2	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CAGCAGTCACACCGTGGCAGC	0.637													G	145580725	A	G	145580725	2	3	12	1	0	0	0	0	0	0	0	1	5723	146	6	3		3	FBXL6	8	145580725	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	479006	145580725	783297	656	10664											
GPR172A	79581	broad.mit.edu	37	chr8	145583729	145583729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttccttgagcgttttcccGccagcaccttcttctgggca	8	15	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:145583729G>A	uc003zcc.1	+	3	734	c.577G>A	c.(577-579)GCC>ACC	p.A193T	FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.A193T|GPR172A_uc003zce.1_Missense_Mutation_p.A193T|GPR172A_uc010mfy.1_Missense_Mutation_p.A193T|GPR172A_uc003zcf.1_Missense_Mutation_p.A193T|GPR172A_uc011llc.1_Missense_Mutation_p.A105T	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A precursor	193						integral to plasma membrane	receptor activity|riboflavin transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCGTTTTCCCGCCAGCACCTT	0.662													A	145583729	G	A	145583729	3	1	12	1	0	0	0	0	1	0	0	0	6669	1087	38	1	583	1	GPR172A	8	145583729	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	3004	145583729	780293	657	10665											
RECQL4	9401	broad.mit.edu	37	chr8	145741187	145741187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcccagtgatcgaactgctCgttcaggaaacaagactcct	9	12	1	2	rs117670586	by1000genomes	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:145741187C>T	uc003zdj.2	-	6	1251	c.1219G>A	c.(1219-1221)GAG>AAG	p.E407K	LRRC14_uc003zdk.1_5'Flank|LRRC14_uc003zdl.1_5'Flank	NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	407					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCGAACTGCTCGTTCAGGAAA	0.617			N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome				T	145741187	C	T	145741187	3	4	12	1	0	0	0	0	1	0	0	0	13202	893	31	1	2472	1	RECQL4	8	145741187	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	157458	145741187	622835	658	10666											
DMRT3	58524	broad.mit.edu	37	chr9	990546	990546	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgaacacaccttgagctcCtaccccatctcgtcttccaa	4	16	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:990546C>A	uc003zgw.1	+	2	998	c.960C>A	c.(958-960)TCC>TCA	p.S320S		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	320					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCTTGAGCTCCTACCCCATCT	0.557													A	990546	C	A	990546	2	1	12	1	0	0	0	0	0	0	0	1	4587	668	24	5		5	DMRT3	9	990546	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08		990546	140222885	659	10667											
KCNV2	169522	broad.mit.edu	37	chr9	2718833	2718833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccaccaacgcggccagaCggtgggcagcgtgggtaagg	19	11	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:2718833C>T	uc003zho.1	+	1	1308	c.1094C>T	c.(1093-1095)ACG>ATG	p.T365M		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	365	Extracellular (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		CGCGGCCAGACGGTGGGCAGC	0.672													T	2718833	C	T	2718833	3	4	12	1	0	0	0	0	1	0	0	0	8095	536	19	1	1096	1	KCNV2	9	2718833	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1728287	2718833	138494598	660	10668											
JAK2	3717	broad.mit.edu	37	chr9	5050792	5050793	+	Frame_Shift_Ins	INS	-	-	A													atgatgagaatagccaaagaINSaaacgatcaaaccccactgg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:5050791_5050792G>GA	uc010mhm.3	+	4	687_688	c.574_575G>GA	c.(574-576)gaafs	p.E192fs	JAK2_uc003ziw.3_Frame_Shift_Ins_p.E192fs	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	192	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding	p.K191Q(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		AATAGCCAAAGAAAACGATCAA	0.371		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				A	5050793	-	A	5050792	7	5	12	1	0	1	1	0	0	0	0	0	7938	246	9	0	589	0	JAK2	9	5050792	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	2331959	5050792	136162639	661	10669											
JAK2	3717	broad.mit.edu	37	chr9	5066768	5066768	+	Frame_Shift_Del	DEL	T	T	-													cctaaggactttaataaataTtttttgacttttgctgtcga							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:5066768delT	uc010mhm.2	+	9	1418	c.1305delT	c.(1303-1305)TATfs	p.Y435fs	JAK2_uc003ziw.2_Frame_Shift_Del_p.Y435fs	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	435	SH2; atypical.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TTAATAAATATTTTTTGACTT	0.323		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				-	5066768	T	-	5066768	7	5	12	1	0	1	0	1	0	0	0	0	7938	1500	52	0	1335	0	JAK2	9	5066768	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	15976	5066768	136146663	662	10670											
UHRF2	115426	broad.mit.edu	37	chr9	6475403	6475403	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttaaacaggggttctgaaggAacattaaatgactgcaagat	10	5	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:6475403A>T	uc003zjy.2	+	5	1216	c.876A>T	c.(874-876)GGA>GGT	p.G292G	UHRF2_uc003zjz.2_RNA|UHRF2_uc003zka.1_Silent_p.G69G	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains	292					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GTTCTGAAGGAACATTAAATG	0.348													T	6475403	A	T	6475403	2	4	12	1	0	0	0	0	0	0	0	1	16967	233	9	5		5	UHRF2	9	6475403	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1408635	6475403	134738028	663	10671											
KDM4C	23081	broad.mit.edu	37	chr9	7015920	7015920	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggtgcaaaagaaatgcGtggacagcagtaagtagctt	13	8	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:7015920G>A	uc003zkh.2	+	15	2830	c.2250G>A	c.(2248-2250)GCG>GCA	p.A750A	KDM4C_uc010mhu.2_Silent_p.A772A|KDM4C_uc011lmi.1_Silent_p.A750A|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Silent_p.A750A|KDM4C_uc011lmk.1_Silent_p.A495A|KDM4C_uc011lml.1_Silent_p.A437A	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	750					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1						AAAGAAATGCGTGGACAGCAG	0.408													A	7015920	G	A	7015920	2	1	12	1	0	0	0	0	0	0	0	1	8130	1132	40	1		1	KDM4C	9	7015920	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	540517	7015920	134197511	664	10672											
TYRP1	7306	broad.mit.edu	37	chr9	12694013	12694013	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgagtgctcctaaacTcctctctctgggctgtatct	8	12	3	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:12694013T>A	uc003zkv.3	+	2	195	c.17T>A	c.(16-18)CTC>CAC	p.L6H		NM_000550	NP_000541	P17643	TYRP1_HUMAN	tyrosinase-related protein 1 precursor	6					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			lung(1)	1		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GCTCCTAAACTCCTCTCTCTG	0.473									Oculocutaneous_Albinism				A	12694013	T	A	12694013	3	1	12	1	0	0	0	0	1	0	0	0	16813	1551	54	5	19	5	TYRP1	9	12694013	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	5678093	12694013	128519418	665	10673											
PSIP1	11168	broad.mit.edu	37	chr9	15474206	15474206	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgtttttcctcttgccccTttttcttacttttgtcctct	4	12	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:15474206T>C	uc003zlv.3	-	9	989	c.659A>G	c.(658-660)AAG>AGG	p.K220R	PSIP1_uc003zlw.3_Missense_Mutation_p.K220R|PSIP1_uc003zlz.3_Missense_Mutation_p.K220R|PSIP1_uc003zma.3_Missense_Mutation_p.K211R|PSIP1_uc003zly.2_Missense_Mutation_p.K220R	NM_033222	NP_150091	O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1 isoform 2	220					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(1)	1				GBM - Glioblastoma multiforme(50;2.38e-06)		CTCTTGCCCCTTTTTCTTACT	0.358													C	15474206	T	C	15474206	3	2	12	1	0	0	0	0	1	0	0	0	12663	1609	56	3	994	3	PSIP1	9	15474206	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	2780193	15474206	125739225	666	10674											
PTPLAD2	401494	broad.mit.edu	37	chr9	21007046	21007047	+	Frame_Shift_Ins	INS	-	-	T													tgctgtacttcacatcttctINStttttttaatgggaaagatt							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:21007045_21007046C>CT	uc010miq.2	-	6	735_736	c.689_690G>AG	c.(688-690)aagfs	p.K230fs	PTPLAD2_uc010mir.1_Frame_Shift_Ins_p.K230fs	NM_001010915	NP_001010915	Q5VWC8	HACD4_HUMAN	Homo sapiens protein tyrosine phosphatase-like A domain containing 2 (PTPLAD2), mRNA.	230	Poly-Lys.				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TTCACATCTTCTTTTTTTTAAT	0.371													T	21007047	-	T	21007046	7	5	12	1	0	1	1	0	0	0	0	0	12776	1609	56	0	13	0	PTPLAD2	9	21007046	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	5532840	21007046	120206385	667	10675											
OR13J1	392309	broad.mit.edu	37	chr9	35869831	35869831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgctgaccgacgtgttgcCgcatgccagcttcagcactg	11	14	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:35869831C>T	uc011lph.1	-	1	568	c.568G>A	c.(568-570)GGC>AGC	p.G190S		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J,	190	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GACGTGTTGCCGCATGCCAGC	0.597													T	35869831	C	T	35869831	3	4	12	1	0	0	0	0	1	0	0	0	10944	652	23	1	373	1	OR13J1	9	35869831	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	14862785	35869831	105343600	668	10676											
TJP2	9414	broad.mit.edu	37	chr9	71827497	71827497	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagctgatatgggaacagTacactgtgaccctacaaaag	10	8	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:71827497T>C	uc004ahe.2	+	2	294	c.94T>C	c.(94-96)TAC>CAC	p.Y32H	TJP2_uc011lrs.1_Missense_Mutation_p.Y9H|TJP2_uc004ahb.1_Missense_Mutation_p.Y9H|TJP2_uc011lrt.1_Missense_Mutation_p.Y9H|TJP2_uc004ahd.2_Missense_Mutation_p.Y32H|TJP2_uc004ahf.2_Missense_Mutation_p.Y32H|TJP2_uc011lru.1_Missense_Mutation_p.Y36H|TJP2_uc011lrv.1_Missense_Mutation_p.Y54H	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	32					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						ATGGGAACAGTACACTGTGAC	0.358													C	71827497	T	C	71827497	3	2	12	1	0	0	0	0	1	0	0	0	15927	1638	57	3	257	3	TJP2	9	71827497	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	35957666	71827497	69385934	669	10677											
SMC5	23137	broad.mit.edu	37	chr9	72965075	72965075	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaattagagtcaaatttcgaAgtagtactcaactgcatgaa	8	6	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:72965075A>G	uc004ahr.2	+	23	3052	c.2935A>G	c.(2935-2937)AGT>GGT	p.S979G	SMC5_uc011lry.1_Missense_Mutation_p.S124G	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	979					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						CAAATTTCGAAGTAGTACTCA	0.328													G	72965075	A	G	72965075	3	3	12	1	0	0	0	0	1	0	0	0	14786	72	3	3	3025	3	SMC5	9	72965075	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1137578	72965075	68248356	670	10678											
FLJ46321	389763	broad.mit.edu	37	chr9	84607323	84607323	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctctgtggttcaaaaatcCcaggaagacttttgtcctcc	7	13	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:84607323C>T	uc004amn.2	+	4	1985	c.1938C>T	c.(1936-1938)TCC>TCT	p.S646S		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	646						integral to membrane					0						TTCAAAAATCCCAGGAAGACT	0.468													T	84607323	C	T	84607323	2	4	12	1	0	0	0	0	0	0	0	1	5932	610	22	4		4	FLJ46321	9	84607323	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	11642248	84607323	56606108	671	10679											
ZCCHC6	79670	broad.mit.edu	37	chr9	88940282	88940282	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgctttttgggccaatcctTcaattcccgagataccaatt	7	12	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:88940282T>C	uc004aoq.2	-	12	1971	c.1756A>G	c.(1756-1758)AAG>GAG	p.K586E	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.K463E|ZCCHC6_uc004aou.2_Missense_Mutation_p.K586E	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	586	PAP-associated 1.				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						GGCCAATCCTTCAATTCCCGA	0.403													C	88940282	T	C	88940282	3	2	12	1	0	0	0	0	1	0	0	0	17589	1792	62	3	2795	3	ZCCHC6	9	88940282	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	4332959	88940282	52273149	672	10680											
SPTLC1	10558	broad.mit.edu	37	chr9	94809515	94809515	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctaacaggggaggtaaCgaagctgaaaagcagtatcc	13	8	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:94809515C>T	uc004arl.1	-	11	1058	c.1020G>A	c.(1018-1020)TCG>TCA	p.S340S	SPTLC1_uc011ltv.1_Silent_p.S340S	NM_006415	NP_006406	O15269	SPTC1_HUMAN	serine palmitoyltransferase subunit 1 isoform a	340	Cytoplasmic (Potential).					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			ovary(1)|breast(1)	2					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGGGAGGTAACGAAGCTGAAA	0.433													T	94809515	C	T	94809515	2	4	12	1	0	0	0	0	0	0	0	1	15122	523	19	1		1	SPTLC1	9	94809515	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	5869233	94809515	46403916	673	10681											
GABBR2	9568	broad.mit.edu	37	chr9	101340346	101340346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggctttcaacccttttgcGttgtcgcactgggaagcaac	10	11	1	0	rs139594158	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:101340346G>A	uc004ays.2	-	2	486	c.330C>T	c.(328-330)AAC>AAT	p.N110N		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	110	Extracellular (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	ACCCTTTTGCGTTGTCGCACT	0.463													A	101340346	G	A	101340346	2	1	12	1	0	0	0	0	0	0	0	1	6156	1136	40	1		1	GABBR2	9	101340346	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	6530831	101340346	39873085	674	10682											
C9orf152	401546	broad.mit.edu	37	chr9	112963554	112963554	+	Frame_Shift_Del	DEL	G	G	-													tacttgatgactggtgtcctGgggggaggtttggaccaaac							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:112963553_112963553TG>T	uc011lwk.2	-	1	949	c.395_395CA>A	c.(394-396)cagfs	p.Q132fs	C9orf152_uc022blq.1_5'Flank	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	132										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACTGGTGTCCTGGGGGGAGGT	0.562													-	112963554	G	-	112963554	7	5	12	1	0	1	0	1	0	0	0	0	2463	1357	47	0	329	0	C9orf152	9	112963554	Frame_Shift_Del	DEL	G	TCGA-BR-4257-01A-01D-1126-08	11623208	112963554	28249877	675	10683											
SVEP1	79987	broad.mit.edu	37	chr9	113261516	113261516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaaggtggaacagtggcGctctacggtagggaaacaga	15	7	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:113261516G>A	uc010mtz.2	-	7	1823	c.1486C>T	c.(1486-1488)CGC>TGC	p.R496C	SVEP1_uc010mua.1_Missense_Mutation_p.R496C|SVEP1_uc004beu.2_Missense_Mutation_p.R496C	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	496	Sushi 3.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GAACAGTGGCGCTCTACGGTA	0.433													A	113261516	G	A	113261516	3	1	12	1	0	0	0	0	1	0	0	0	15417	1087	38	1	9397	1	SVEP1	9	113261516	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	297962	113261516	27951915	676	10684											
DNAJC25-GNG10	552891	broad.mit.edu	37	chr9	114429191	114429191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctggaagtaaccccttcCgggagcctagatcctgtgct	11	13	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:114429191C>T	uc004bfn.2	+	2	455	c.433C>T	c.(433-435)CGG>TGG	p.R145W	GNG10_uc011lws.1_RNA|GNG10_uc004bfp.2_Missense_Mutation_p.R60W	NM_004125	NP_004116	Q9H1X3	DJC25_HUMAN	DNAJC25-GNG10 protein	Error:Variant_position_missing_in_Q9H1X3_after_alignment					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding				0						TAACCCCTTCCGGGAGCCTAG	0.517													T	114429191	C	T	114429191	3	4	12	1	0	0	0	0	1	0	0	0	4644	643	23	1	439	1	DNAJC25-GNG10	9	114429191	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1167675	114429191	26784240	677	10685											
WDR31	114987	broad.mit.edu	37	chr9	116082681	116082681	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagccattgctgcaggagaTacacttgtgtccatccacac	8	12	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:116082681T>C	uc004bhe.2	-	9	988	c.736A>G	c.(736-738)ATC>GTC	p.I246V	WDR31_uc004bhc.2_Missense_Mutation_p.I245V|WDR31_uc004bhd.2_Missense_Mutation_p.I121V|WDR31_uc004bhf.2_RNA	NM_001012361	NP_001012361	Q8NA23	WDR31_HUMAN	WD repeat domain 31 isoform 1	246											0						CTGCAGGAGATACACTTGTGT	0.507													C	116082681	T	C	116082681	3	2	12	1	0	0	0	0	1	0	0	0	17283	1406	49	3	379	3	WDR31	9	116082681	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1653490	116082681	25130750	678	10686											
COL27A1	85301	broad.mit.edu	37	chr9	117008145	117008145	+	Splice_Site	DEL	G	G	-													ctcctctttgtctctttgcaGggggaaccaggggatcctgg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:117008145delG	uc011lxl.1	+	24	2935	c.2935_splice	c.e24-1	p.G979_splice	COL27A1_uc004bii.2_Splice_Site	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor						cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						TCTCTTTGCAGGGGGAACCAG	0.517													-	117008145	G	-	117008145	8	5	12	1	0	1	0	1	0	0	1	0	3685	1014	35	0	3028	0	COL27A1	9	117008145	Splice_Site	DEL	G	TCGA-BR-4257-01A-01D-1126-08	925464	117008145	24205286	679	10687											
OR1L3	26735	broad.mit.edu	37	chr9	125437936	125437936	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatcaaatgttatccatcaTtttttttgtgatgtcaaccc	4	9	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:125437936T>C	uc011lzb.1	+	1	528	c.528T>C	c.(526-528)CAT>CAC	p.H176H		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L,	176	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TTATCCATCATTTTTTTTGTG	0.463													C	125437936	T	C	125437936	2	2	12	1	0	0	0	0	0	0	0	1	10964	1490	52	3		3	OR1L3	9	125437936	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	8429791	125437936	15775495	680	10688											
PDCL	5082	broad.mit.edu	37	chr9	125582383	125582383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaatctatttccaggtcgCtatcctcactgtgacacgtg	7	12	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:125582383C>T	uc004bmz.1	-	4	983	c.887G>A	c.(886-888)AGC>AAC	p.S296N	uc004bmy.2_5'Flank|PDCL_uc004bna.2_3'UTR	NM_005388	NP_005379	Q13371	PHLP_HUMAN	phosducin-like	296					signal transduction|visual perception						0						TTCCAGGTCGCTATCCTCACT	0.418													T	125582383	C	T	125582383	3	4	12	1	0	0	0	0	1	0	0	0	11626	797	28	2	22	2	PDCL	9	125582383	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	144447	125582383	15631048	681	10689											
PDCL	5082	broad.mit.edu	37	chr9	125582805	125582805	+	Frame_Shift_Del	DEL	C	C	-													aaaacctgcttgaattggggCcccttgtgaagctgctgccg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:125582804_125582804GC>G	uc004bmz.2	-	3	657	c.466_466GC>C	c.(466-468)cccfs	p.P156fs		NM_005388	NP_005379	Q13371	PHLP_HUMAN	Homo sapiens phosducin-like (PDCL), mRNA.	156					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TTGAATTGGGGCCCCTTGTGA	0.438													-	125582805	C	-	125582805	7	5	12	1	0	1	0	1	0	0	0	0	11626	726	26	0	444	0	PDCL	9	125582805	Frame_Shift_Del	DEL	C	TCGA-BR-4257-01A-01D-1126-08	422	125582805	15630626	682	10690											
RABGAP1	23637	broad.mit.edu	37	chr9	125760928	125760928	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggtaataacagaagtacaGgagcctgttcgatttctcct	9	8	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:125760928G>T	uc011lzh.1	+	10	1391	c.1257G>T	c.(1255-1257)CAG>CAT	p.Q419H	RABGAP1_uc004bnl.3_RNA	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	419					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						CAGAAGTACAGGAGCCTGTTC	0.393													T	125760928	G	T	125760928	3	4	12	1	0	0	0	0	1	0	0	0	12964	991	35	5	1291	5	RABGAP1	9	125760928	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	178123	125760928	15452503	683	10691											
FAM129B	64855	broad.mit.edu	37	chr9	130294048	130294048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaactccgtcaggatcttcCcggttttttctggaagagaa	11	9	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:130294048C>T	uc004brh.2	-	2	267	c.65G>A	c.(64-66)GGG>GAG	p.G22E	FAM129B_uc004bri.2_Missense_Mutation_p.G9E|FAM129B_uc004brj.3_Missense_Mutation_p.G22E	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	22							protein binding				0						CAGGATCTTCCCGGTTTTTTC	0.532													T	130294048	C	T	130294048	3	4	12	1	0	0	0	0	1	0	0	0	5437	623	22	4	2227	4	FAM129B	9	130294048	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	4533120	130294048	10919383	684	10692											
TTC16	158248	broad.mit.edu	37	chr9	130491863	130491864	+	Frame_Shift_Ins	INS	-	-	A													ctgtttcttgccataggagaINSaaaaatcagagctcatacct							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:130491862_130491863G>GA	uc004brq.1	+	12	1834_1835	c.1767_1768G>GA	c.(1765-1770)gagaaafs	p.E589fs	TTC16_uc011mai.1_Frame_Shift_Ins_p.E576fs|TTC16_uc004brr.1_Intron|TTC16_uc010mxn.1_Frame_Shift_Ins_p.E185fs	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	589							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TGCCATAGGAGAAAAAATCAGA	0.554													A	130491864	-	A	130491863	7	5	12	1	0	1	1	0	0	0	0	0	16680	247	9	0	1818	0	TTC16	9	130491863	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	197815	130491863	10721568	685	10693											
CERCAM	51148	broad.mit.edu	37	chr9	131186544	131186544	+	Frame_Shift_Del	DEL	C	C	-													caacttctggtgtgggatcaCcccccaggtgaggccgggat							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:131186543_131186543AC>A	uc004buz.4	+	3	951	c.553_553AC>A	c.(553-555)accfs	p.T185fs	CERCAM_uc004buy.1_Frame_Shift_Del_p.T107fs|CERCAM_uc010mxz.3_Frame_Shift_Del_p.T107fs|CERCAM_uc010mya.1_Frame_Shift_Del_p.T26fs	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	Homo sapiens cerebral endothelial cell adhesion molecule (CERCAM), mRNA.	185					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GTGTGGGATCACCCCCCAGGT	0.632													-	131186544	C	-	131186544	7	5	12	1	0	1	0	1	0	0	0	0	3266	507	18	0	568	0	CERCAM	9	131186544	Frame_Shift_Del	DEL	C	TCGA-BR-4257-01A-01D-1126-08	694681	131186544	10026887	686	10694											
ABL1	25	broad.mit.edu	37	chr9	133730285	133730285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccaagcaactacatcacGccagtcaacagtctggagaa	8	13	3	1	rs141072111		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:133730285G>A	uc004bzw.2	+	3	354	c.351G>A	c.(349-351)ACG>ACA	p.T117T	ABL1_uc004bzv.2_Silent_p.T136T	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	117	SH3.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	ACTACATCACGCCAGTCAACA	0.537			T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL								A	133730285	G	A	133730285	2	1	12	1	0	0	0	0	0	0	0	1	92	1074	38	1		1	ABL1	9	133730285	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2543741	133730285	7483146	687	10695											
DDX31	64794	broad.mit.edu	37	chr9	135537951	135537951	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaaacattttttgtgcGttccccttaaaagtcctctg	8	9	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:135537951G>A	uc004cbq.1	-	2	674	c.522C>T	c.(520-522)AAC>AAT	p.N174N	DDX31_uc010mzu.1_Silent_p.N174N|DDX31_uc004cbr.1_Silent_p.N174N|DDX31_uc004cbs.1_Silent_p.N174N	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	174						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TTTTTTGTGCGTTCCCCTTAA	0.433													A	135537951	G	A	135537951	2	1	12	1	0	0	0	0	0	0	0	1	4356	1136	40	1		1	DDX31	9	135537951	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1807666	135537951	5675480	688	10696											
REXO4	57109	broad.mit.edu	37	chr9	136279942	136279942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtactggcgccctcctgtCcatcttggaacctgaaggaa	11	12	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:136279942C>T	uc004cdm.2	-	2	615	c.415G>A	c.(415-417)GAC>AAC	p.D139N	ADAMTS13_uc004cdp.3_Intron|REXO4_uc011mde.1_Missense_Mutation_p.D2N|REXO4_uc011mdf.1_Missense_Mutation_p.D2N|REXO4_uc004cdn.2_Intron|REXO4_uc004cdo.2_Nonsense_Mutation_p.W79*	NM_020385	NP_065118	Q9GZR2	REXO4_HUMAN	XPMC2 prevents mitotic catastrophe 2 homolog	139						nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		GCCCTCCTGTCCATCTTGGAA	0.527													T	136279942	C	T	136279942	3	4	12	1	0	0	0	0	1	0	0	0	13243	855	30	4	881	4	REXO4	9	136279942	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	741991	136279942	4933489	689	10697											
ADAMTS13	11093	broad.mit.edu	37	chr9	136310835	136310835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagctggatgccacctctGcaggggagaaggctccctcc	12	15	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:136310835G>A	uc004cdv.3	+	21	3070	c.2626G>A	c.(2626-2628)GCA>ACA	p.A876T	ADAMTS13_uc004cdp.3_Missense_Mutation_p.A103T|ADAMTS13_uc004cdt.1_Missense_Mutation_p.A876T|ADAMTS13_uc004cdu.1_Missense_Mutation_p.A845T|ADAMTS13_uc004cdw.3_Missense_Mutation_p.A876T|ADAMTS13_uc004cdx.3_Missense_Mutation_p.A845T|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Missense_Mutation_p.A546T|ADAMTS13_uc004cds.1_Missense_Mutation_p.A401T|ADAMTS13_uc004cdr.1_RNA	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	876					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)		TGCCACCTCTGCAGGGGAGAA	0.657													A	136310835	G	A	136310835	3	1	12	1	0	0	0	0	1	0	0	0	258	1319	46	2	2708	2	ADAMTS13	9	136310835	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	30893	136310835	4902596	690	10698											
SLC2A6	11182	broad.mit.edu	37	chr9	136343522	136343522	+	Frame_Shift_Del	DEL	T	T	-													gaaggtggccaggaacacccTtttgttctgcagggtcctgg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:136343521_136343521CT>C	uc004cee.3	-	1	205	c.110_110AG>G	c.(109-111)aggfs	p.R37fs	SLC2A6_uc004cef.3_Frame_Shift_Del_p.R37fs|SLC2A6_uc004ceg.3_Frame_Shift_Del_p.R37fs|SLC2A6_uc011mdj.1_Frame_Shift_Del_p.R37fs	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 6 (SLC2A6), transcript variant 1, mRNA.	37						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CAGGAACACCCTTTTGTTCTG	0.587													-	136343522	T	-	136343522	7	5	12	1	0	1	0	1	0	0	0	0	14549	1608	56	0	1450	0	SLC2A6	9	136343522	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	32687	136343522	4869909	691	10699											
TMEM8C	389827	broad.mit.edu	37	chr9	136384042	136384042	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgccgatggggcccgagTacaccccgtagccccatcgg	13	16	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:136384042T>C	uc011mdk.1	-	3	353	c.353A>G	c.(352-354)TAC>TGC	p.Y118C		NM_001080483	NP_001073952	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	118	Helical; (Potential).					integral to membrane					0						GGGGCCCGAGTACACCCCGTA	0.617													C	136384042	T	C	136384042	3	2	12	1	0	0	0	0	1	0	0	0	16213	1638	57	3	324	3	TMEM8C	9	136384042	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	40520	136384042	4829389	692	10700											
AGPAT2	10555	broad.mit.edu	37	chr9	139571494	139571494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccggttgatgaagaagacGcccccgaggtacatgatgag	14	9	0	6	rs149658120		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:139571494G>A	uc004cii.1	-	3	513	c.411C>T	c.(409-411)GGC>GGT	p.G137G	AGPAT2_uc004cij.1_Silent_p.G137G	NM_006412	NP_006403	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	137	Helical; (Potential).				phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		TGAAGAAGACGCCCCCGAGGT	0.652													A	139571494	G	A	139571494	2	1	12	1	0	0	0	0	0	0	0	1	387	1074	38	1		1	AGPAT2	9	139571494	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	3187452	139571494	1641937	693	10701											
C9orf86	55684	broad.mit.edu	37	chr9	139734212	139734212	+	Frame_Shift_Del	DEL	C	C	-													atgagggccctgccgagccgCccccaccccccaagctccct							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:139734212delC	uc004cji.1	+	13	2093	c.1825delC	c.(1825-1827)CCCfs	p.P609fs	C9orf86_uc004cjj.1_Frame_Shift_Del_p.P610fs|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Intron|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Frame_Shift_Del_p.P494fs|C9orf86_uc004cjn.1_Frame_Shift_Del_p.P403fs	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN	Rab-like GTP-binding protein 1 isoform 1	609					small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		TGCCGAGCCGCCCCCACCCCC	0.642													-	139734212	C	-	139734212	7	5	12	1	0	1	0	1	0	0	0	0	2502	739	26	0	2122	0	C9orf86	9	139734212	Frame_Shift_Del	DEL	C	TCGA-BR-4257-01A-01D-1126-08	162718	139734212	1479219	694	10702											
TMEM203	94107	broad.mit.edu	37	chr9	140099729	140099729	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaggcacgaacacgttccaCcaggagaggcccgggaccag	13	13	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:140099729C>A	uc004clv.2	-	1	362	c.138G>T	c.(136-138)TGG>TGT	p.W46C	NDOR1_uc004clx.2_5'Flank|NDOR1_uc004clw.2_5'Flank|NDOR1_uc011mes.1_5'Flank|NDOR1_uc004cly.2_5'Flank	NM_053045	NP_444273	Q969S6	TM203_HUMAN	transmembrane protein 203	46						integral to membrane					0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		ACACGTTCCACCAGGAGAGGC	0.627													A	140099729	C	A	140099729	3	1	12	1	0	0	0	0	1	0	0	0	16125	508	18	5	276	5	TMEM203	9	140099729	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	365517	140099729	1113702	695	10703											
LARP4B	23185	broad.mit.edu	37	chr10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-													agataagcagaattccaatgTttttttaagtacttctcggg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:890938_890938GT>G	uc001ifs.1	-	4	529	c.488_488AC>C	c.(487-489)acafs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	163	HTH La-type RNA-binding.						RNA binding|nucleotide binding	p.T163P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GAATTCCAATGTTTTTTTAAG	0.353													-	890939	T	-	890939	7	5	12	1	0	1	0	1	0	0	0	0	8631	1725	60	0	1781	0	LARP4B	10	890939	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08		890939	134643808	696	10704											
PITRM1	10531	broad.mit.edu	37	chr10	3180476	3180476	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctgacagcaaagagctgctCtctgtgggcctgcttcatct	11	12	3	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:3180476C>A	uc010qah.1	-	23	2709	c.2677G>T	c.(2677-2679)GAG>TAG	p.E893*	PITRM1_uc001igr.1_3'UTR|PITRM1_uc001igs.1_Nonsense_Mutation_p.E96*|PITRM1_uc001igt.1_Nonsense_Mutation_p.E991*|PITRM1_uc009xhv.1_Nonsense_Mutation_p.E557*|PITRM1_uc001igu.1_Nonsense_Mutation_p.E917*|PITRM1_uc010qai.1_Nonsense_Mutation_p.E962*			E7ES23	E7ES23_HUMAN	SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;	893					proteolysis		metalloendopeptidase activity|zinc ion binding			pancreas(1)	1						AAGAGCTGCTCTCTGTGGGCC	0.617													A	3180476	C	A	3180476	4	1	12	1	0	0	0	0	0	1	0	0	11953	922	32	5	150	5	PITRM1	10	3180476	Nonsense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2289537	3180476	132354271	697	10705											
AKR1E2	83592	broad.mit.edu	37	chr10	4889684	4889684	+	Frame_Shift_Del	DEL	A	A	-													tttttctgtttttcagaactAaaaatcacaaagactatcct							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:4889684delA	uc001ihi.2	+	10	1040	c.925delA	c.(925-927)AAAfs	p.K309fs	AKR1E2_uc001ihl.1_Intron|AKR1E2_uc009xhw.2_Frame_Shift_Del_p.K211fs|AKR1E2_uc001ihj.2_RNA|AKR1E2_uc001ihk.2_Frame_Shift_Del_p.K252fs	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	309						cytoplasm	1,5-anhydro-D-fructose reductase activity				0						TTTCAGAACTAAAAATCACAA	0.343													-	4889684	A	-	4889684	7	5	12	1	0	1	0	1	0	0	0	0	474	363	13	0	963	0	AKR1E2	10	4889684	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	1709208	4889684	130645063	698	10706											
NET1	10276	broad.mit.edu	37	chr10	5498109	5498109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcggcccgtcacacggaaCgaacggcactcttaccaggt	10	15	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:5498109C>T	uc001iia.2	+	11	1395	c.1257C>T	c.(1255-1257)AAC>AAT	p.N419N	NET1_uc010qar.1_Silent_p.N238N|NET1_uc001iib.2_Silent_p.N365N|NET1_uc010qas.1_Silent_p.N238N	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming gene 1 isoform	419	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(1)	1						TCACACGGAACGAACGGCACT	0.483													T	5498109	C	T	5498109	2	4	12	1	0	0	0	0	0	0	0	1	10338	535	19	1		1	NET1	10	5498109	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	608425	5498109	130036638	699	10707											
TAF3	83860	broad.mit.edu	37	chr10	8006409	8006409	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaaagaaaagaaatcaccTggacgttccaagagccccaa	7	12	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:8006409T>C	uc010qbd.1	+	3	936	c.936T>C	c.(934-936)CCT>CCC	p.P312P		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	312					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1						AGAAATCACCTGGACGTTcca	0.403													C	8006409	T	C	8006409	2	2	12	1	0	0	0	0	0	0	0	1	15522	1567	55	3		3	TAF3	10	8006409	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	2508300	8006409	127528338	700	10708											
FAM171A1	221061	broad.mit.edu	37	chr10	15290697	15290697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcctcaggctgctctgcGtggccaggggcacagtgaca	15	12	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:15290697G>A	uc001iob.2	-	5	702	c.695C>T	c.(694-696)ACG>ATG	p.T232M		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	232	Extracellular (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						GCTGCTCTGCGTGGCCAGGGG	0.602													A	15290697	G	A	15290697	3	1	12	1	0	0	0	0	1	0	0	0	5490	1145	40	1	1993	1	FAM171A1	10	15290697	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	7284288	15290697	120244050	701	10709											
CUBN	8029	broad.mit.edu	37	chr10	16932369	16932369	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggttcttagggctacttaCggctaacaaaggacgcggag	13	8	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:16932369C>T	uc001ioo.2	-	55	8807	c.8755_splice	c.e55+1	p.R2919_splice	CUBN_uc009xjq.1_Splice_Site|CUBN_uc009xjr.1_Splice_Site_p.R275_splice	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor						cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGGCTACTTACGGCTAACAAA	0.572													T	16932369	C	T	16932369	5	4	12	1	0	0	0	0	0	0	1	0	4051	550	19	1	2167	1	CUBN	10	16932369	Splice_Site	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1641672	16932369	118602378	702	10710											
STAM	8027	broad.mit.edu	37	chr10	17735288	17735290	+	In_Frame_Del	DEL	AAG	AAG	-													tggtactgtggctaacaaaaAagaagaagaagatttagcaa					rs146689436		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:17735287_17735289AAAG>A	uc001ipj.2	+	5	726_728	c.511_513AAAG>A	c.(511-513)aaa>A	p.K171del	STAM_uc010qcf.2_In_Frame_Del_p.K60del|STAM_uc009xjw.2_5'Flank	NM_003473	NP_003464	Q92783	STAM1_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 (STAM), transcript variant 1, mRNA.	171					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GGCTAACAAAAAAGAAGAAGAAG	0.374													-	17735290	AAG	-	17735288	7	5	12	1	0	1	0	1	0	0	0	0	15247	14	1	0	534	0	STAM	10	17735288	In_Frame_Del	DEL	AAG	TCGA-BR-4257-01A-01D-1126-08	802919	17735288	117799459	703	10711											
STAM	8027	broad.mit.edu	37	chr10	17747022	17747022	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagctggaagatattgatAggtaaaagaacatgggtgca	12	3	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:17747022A>G	uc001ipj.1	+	11	1270	c.1054A>G	c.(1054-1056)AGA>GGA	p.R352G	STAM_uc009xjw.1_Intron	NM_003473	NP_003464	Q92783	STAM1_HUMAN	signal transducing adaptor molecule 1	352					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			large_intestine(1)|ovary(1)	2						AGATATTGATAGGTAAAAGAA	0.338													G	17747022	A	G	17747022	3	3	12	1	0	0	0	0	1	0	0	0	15247	434	15	3	1096	3	STAM	10	17747022	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	11734	17747022	117787725	704	10712											
KIAA1462	57608	broad.mit.edu	37	chr10	30336525	30336525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcctctcggtgtgctgcGgcggctttcggagtcactca	15	12	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:30336525G>A	uc001iux.2	-	1	276	c.217C>T	c.(217-219)CGC>TGC	p.R73C	KIAA1462_uc001iuy.2_Missense_Mutation_p.R73C|KIAA1462_uc001iuz.2_5'UTR|KIAA1462_uc009xle.1_Missense_Mutation_p.R73C	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	73										ovary(4)	4						GGTGTGCTGCGGCGGCTTTCG	0.622													A	30336525	G	A	30336525	3	1	12	1	0	0	0	0	1	0	0	0	8234	1116	39	1	3874	1	KIAA1462	10	30336525	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	12589503	30336525	105198222	705	10713											
MAP3K8	1326	broad.mit.edu	37	chr10	30748255	30748255	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggatgagagagctgatagaAgcttccctggagagaaaccc	14	8	0	5			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:30748255A>G	uc001ivi.1	+	8	1794	c.1098A>G	c.(1096-1098)GAA>GAG	p.E366E	MAP3K8_uc009xlf.1_Silent_p.E366E|MAP3K8_uc001ivj.1_Silent_p.E366E	NM_005204	NP_005195	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase	366	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(3)|central_nervous_system(1)	4		Prostate(175;0.151)				AGCTGATAGAAGCTTCCCTGG	0.532													G	30748255	A	G	30748255	2	3	12	1	0	0	0	0	0	0	0	1	9256	69	3	3		3	MAP3K8	10	30748255	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	411730	30748255	104786492	706	10714											
ARHGAP12	94134	broad.mit.edu	37	chr10	32097965	32097965	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgattaaatgtaaaaagAggttctggtaattctcgaaa	8	3	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:32097965A>G	uc001ivz.1	-	18	2490	c.2220T>C	c.(2218-2220)CCT>CCC	p.P740P	ARHGAP12_uc001ivy.1_Silent_p.P686P|ARHGAP12_uc009xls.2_Silent_p.P691P|ARHGAP12_uc001iwb.1_Silent_p.P733P|ARHGAP12_uc001iwc.1_Silent_p.P708P|ARHGAP12_uc009xlq.1_Silent_p.P661P|ARHGAP12_uc001ivw.1_5'Flank|ARHGAP12_uc001ivx.1_Silent_p.P39P	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	740	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		Prostate(175;0.0199)				ATGTAAAAAGAGGTTCTGGTA	0.289													G	32097965	A	G	32097965	2	3	12	1	0	0	0	0	0	0	0	1	865	291	11	3		3	ARHGAP12	10	32097965	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1349710	32097965	103436782	707	10715											
PARD3	56288	broad.mit.edu	37	chr10	34558704	34558704	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagccatggaaccttcataAgaagaaactcccccatacat	6	12	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:34558704A>G	uc010qej.1	-	22	3309	c.3309T>C	c.(3307-3309)TCT>TCC	p.S1103S	PARD3_uc010qek.1_Silent_p.S1100S|PARD3_uc010qel.1_Silent_p.S1066S|PARD3_uc010qem.1_Silent_p.S1087S|PARD3_uc010qen.1_Silent_p.S1057S|PARD3_uc010qeo.1_Silent_p.S1020S|PARD3_uc010qep.1_Silent_p.S1013S|PARD3_uc010qeq.1_Silent_p.S991S	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	1103					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)				AACCTTCATAAGAAGAAACTC	0.468													G	34558704	A	G	34558704	2	3	12	1	0	0	0	0	0	0	0	1	11443	59	3	3		3	PARD3	10	34558704	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2460739	34558704	100976043	708	10716											
RASGEF1A	221002	broad.mit.edu	37	chr10	43696165	43696165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagggggtcgcagcacaCgcccaggatgtccttctggg	14	14	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:43696165C>T	uc001jap.1	-	5	712	c.631G>A	c.(631-633)GTG>ATG	p.V211M	RASGEF1A_uc001jao.1_Missense_Mutation_p.V219M	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	211					cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						TCGCAGCACACGCCCAGGATG	0.652													T	43696165	C	T	43696165	3	4	12	1	0	0	0	0	1	0	0	0	13069	536	19	1	850	1	RASGEF1A	10	43696165	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	9137461	43696165	91838582	709	10717											
RASSF4	83937	broad.mit.edu	37	chr10	45488730	45488730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccaggttccaagccctgCgtctgacgatgctgcagcgc	11	16	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:45488730C>T	uc001jbo.2	+	11	1053	c.919C>T	c.(919-921)CGT>TGT	p.R307C	RASSF4_uc001jbp.2_Missense_Mutation_p.R338C|RASSF4_uc009xmn.2_Missense_Mutation_p.R237C|RASSF4_uc001jbq.2_Missense_Mutation_p.R204C|RASSF4_uc001jbt.2_Missense_Mutation_p.R264C	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN	Ras association domain family 4	307	SARAH.				cell cycle|signal transduction		protein binding			large_intestine(1)	1						CCAAGCCCTGCGTCTGACGAT	0.622													T	45488730	C	T	45488730	3	4	12	1	0	0	0	0	1	0	0	0	13088	768	27	1	957	1	RASSF4	10	45488730	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1792565	45488730	90046017	710	10718											
FAM21C	253725	broad.mit.edu	37	chr10	46248126	46248126	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgttcagtggcggcaAggggctatttgatgatgagg	17	6	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:46248126A>G	uc001jcu.2	+	12	1193	c.1094A>G	c.(1093-1095)AAG>AGG	p.K365R	FAM21C_uc001jcs.1_Missense_Mutation_p.K310R|FAM21C_uc001jct.2_Missense_Mutation_p.K365R|FAM21C_uc010qfi.1_Missense_Mutation_p.K341R|FAM21C_uc010qfj.1_5'Flank	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	hypothetical protein LOC253725	365										ovary(1)	1						AGTGGCGGCAAGGGGCTATTT	0.552													G	46248126	A	G	46248126	3	3	12	1	0	0	0	0	1	0	0	0	5542	72	3	3	1140	3	FAM21C	10	46248126	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	759396	46248126	89286621	711	10719											
ANK3	288	broad.mit.edu	37	chr10	61868760	61868760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattctcatcccgtgatgacGgcttcctctcatggagcccc	9	15	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:61868760G>A	uc001jky.2	-	27	3193	c.3001C>T	c.(3001-3003)CGT>TGT	p.R1001C	ANK3_uc001jkw.2_Missense_Mutation_p.R135C|ANK3_uc009xpa.2_Missense_Mutation_p.R135C|ANK3_uc001jkx.2_Missense_Mutation_p.R179C|ANK3_uc010qih.1_Missense_Mutation_p.R1002C|ANK3_uc001jkz.3_Missense_Mutation_p.R995C|ANK3_uc001jla.1_Missense_Mutation_p.R67C|ANK3_uc001jlb.1_Missense_Mutation_p.R519C	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1001	ZU5.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CCGTGATGACGGCTTCCTCTC	0.527													A	61868760	G	A	61868760	3	1	12	1	0	0	0	0	1	0	0	0	622	1116	39	1	10513	1	ANK3	10	61868760	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	15620634	61868760	73665987	712	10720											
HERC4	26091	broad.mit.edu	37	chr10	69785436	69785436	+	Splice_Site	DEL	A	A	-													agtaaacactccaccttcctAaaaaaagacaaaacccctta					rs3834396	by1000genomes	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:69785435_69785435TA>T	uc001jng.4	-	8	1089	c.778_splice	c.e8-1	p.E260_splice	HERC4_uc001jnf.4_Splice_Site|HERC4_uc001jnh.4_Splice_Site_p.E260_splice|HERC4_uc009xpr.3_Splice_Site_p.E260_splice|HERC4_uc001jni.4_Splice_Site_p.E4_splice	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	Homo sapiens hect domain and RLD 4 (HERC4), transcript variant 1, mRNA.	260					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	p.?(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TCCACCTTCCTAAAAAAAGAC	0.338													-	69785436	A	-	69785436	8	5	12	1	0	1	0	1	0	0	1	0	7060	377	13	0		0	HERC4	10	69785436	Splice_Site	DEL	A	TCGA-BR-4257-01A-01D-1126-08	7916676	69785436	65749311	713	10721											
TET1	80312	broad.mit.edu	37	chr10	70450958	70450958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccactggtgtgactgagcCgctaacgcctcatcagccaa	9	14	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:70450958C>T	uc001jok.3	+	12	6303	c.5798C>T	c.(5797-5799)CCG>CTG	p.P1933L		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1933					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						GTGACTGAGCCGCTAACGCCT	0.552													T	70450958	C	T	70450958	3	4	12	1	0	0	0	0	1	0	0	0	15766	652	23	1	5840	1	TET1	10	70450958	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	665522	70450958	65083789	714	10722											
CDH23	64072	broad.mit.edu	37	chr10	73544820	73544820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaccttcaacatcactgCgggcaaccgcgagcgggcct	10	17	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:73544820C>T	uc001jrx.3	+	41	6052	c.5675C>T	c.(5674-5676)GCG>GTG	p.A1892V		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1892	Cadherin 18.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						AACATCACTGCGGGCAACCGC	0.602													T	73544820	C	T	73544820	3	4	12	1	0	0	0	0	1	0	0	0	3108	768	27	1	6186	1	CDH23	10	73544820	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3093862	73544820	61989927	715	10723											
DNAJB12	54788	broad.mit.edu	37	chr10	74114622	74114622	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccttgagggcgatgctgaTacagcgctcagcttcatcct	12	12	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:74114622T>C	uc010qjv.1	-	1	286	c.136A>G	c.(136-138)ATC>GTC	p.I46V	DNAJB12_uc001jsz.2_Missense_Mutation_p.I46V|DNAJB12_uc001jta.2_Missense_Mutation_p.I46V	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	12					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding				0						GCGATGCTGATACAGCGCTCA	0.677													C	74114622	T	C	74114622	3	2	12	1	0	0	0	0	1	0	0	0	4617	1406	49	3	1125	3	DNAJB12	10	74114622	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	569802	74114622	61420125	716	10724											
CBARA1	10367	broad.mit.edu	37	chr10	74267946	74267946	+	Frame_Shift_Del	DEL	A	A	-													tgtgaggaaaatgtagtctgAaaaggatatgagcccacatt							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:74267946delA	uc001jtb.1	-	7	758	c.625delT	c.(625-627)TCAfs	p.S209fs	CBARA1_uc010qjw.1_5'UTR|CBARA1_uc010qjx.1_Intron|CBARA1_uc009xqo.1_RNA	NM_006077	NP_006068	Q9BPX6	MICU1_HUMAN	calcium binding atopy-related autoantigen 1	207					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			ovary(1)	1						ATGTAGTCTGAAAAGGATATG	0.348													-	74267946	A	-	74267946	7	5	12	1	0	1	0	1	0	0	0	0	2696	246	9	0	839	0	CBARA1	10	74267946	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	153324	74267946	61266801	717	10725											
ECD	11319	broad.mit.edu	37	chr10	74894376	74894376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttacttgttggtctgtgatCggtgttgtcaggcagctgca	13	8	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:74894376C>T	uc001jtn.2	-	14	2143	c.1900G>A	c.(1900-1902)GAT>AAT	p.D634N	ECD_uc009xqx.2_Missense_Mutation_p.D667N|ECD_uc009xqy.2_Missense_Mutation_p.D591N|ECD_uc001jto.2_Missense_Mutation_p.D333N	NM_007265	NP_009196	O95905	SGT1_HUMAN	suppressor of S. cerevisiae gcr2 isoform 1	634					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			pancreas(1)	1	Prostate(51;0.0119)					GGTCTGTGATCGGTGTTGTCA	0.378													T	74894376	C	T	74894376	3	4	12	1	0	0	0	0	1	0	0	0	4888	884	31	1	38	1	ECD	10	74894376	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	626430	74894376	60640371	718	10726											
SEC24C	9632	broad.mit.edu	37	chr10	75523277	75523277	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgaagatgacaggaacaaCcggggtacagagccatttgt	12	7	0	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:75523277C>A	uc001juw.2	+	8	1196	c.1017C>A	c.(1015-1017)AAC>AAA	p.N339K	SEC24C_uc010qkn.1_Intron|SEC24C_uc009xrj.1_Missense_Mutation_p.N197K|SEC24C_uc001jux.2_Missense_Mutation_p.N339K|SEC24C_uc010qko.1_Missense_Mutation_p.N220K|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron	NM_004922	NP_004913	P53992	SC24C_HUMAN	SEC24-related protein C	339					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			skin(2)|central_nervous_system(1)	3	Prostate(51;0.0112)					ACAGGAACAACCGGGGTACAG	0.488													A	75523277	C	A	75523277	3	1	12	1	0	0	0	0	1	0	0	0	13996	506	18	5	1039	5	SEC24C	10	75523277	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	628901	75523277	60011470	719	10727											
KCNMA1	3778	broad.mit.edu	37	chr10	78799284	78799284	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catccagttaaaggtcacttActcacaaacagtagggaagg	9	9	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:78799284A>G	uc001jxn.2	-	15	2036	c.1859_splice	c.e15+1	p.E620_splice	KCNMA1_uc001jxj.2_Splice_Site_p.E620_splice|KCNMA1_uc001jxk.1_Splice_Site_p.E235_splice|KCNMA1_uc009xrt.1_Splice_Site_p.E440_splice|KCNMA1_uc001jxl.1_Splice_Site_p.E274_splice|KCNMA1_uc001jxo.2_Splice_Site_p.E620_splice|KCNMA1_uc001jxm.2_Splice_Site_p.E620_splice|KCNMA1_uc001jxq.2_Splice_Site_p.E620_splice	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium						cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AAGGTCACTTACTCACAAACA	0.473													G	78799284	A	G	78799284	5	3	12	1	0	0	0	0	0	0	1	0	8073	405	14	3	2077	3	KCNMA1	10	78799284	Splice_Site	SNP	A	TCGA-BR-4257-01A-01D-1126-08	3276007	78799284	56735463	720	10728											
KCNMA1	3778	broad.mit.edu	37	chr10	78844406	78844406	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagagttacctcatgatattCgaggcatcctccgcatccgg	9	12	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:78844406C>T	uc001jxn.2	-	12	1689	c.1512G>A	c.(1510-1512)TCG>TCA	p.S504S	KCNMA1_uc001jxj.2_Silent_p.S504S|KCNMA1_uc001jxk.1_Silent_p.S119S|KCNMA1_uc009xrt.1_Silent_p.S324S|KCNMA1_uc001jxl.1_Silent_p.S158S|KCNMA1_uc001jxo.2_Silent_p.S504S|KCNMA1_uc001jxm.2_Silent_p.S504S|KCNMA1_uc001jxq.2_Silent_p.S504S	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	504	RCK N-terminal.|Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCATGATATTCGAGGCATCCT	0.532													T	78844406	C	T	78844406	2	4	12	1	0	0	0	0	0	0	0	1	8073	871	31	1		1	KCNMA1	10	78844406	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	45122	78844406	56690341	721	10729											
ZMIZ1	57178	broad.mit.edu	37	chr10	81053157	81053157	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgggtcccacccaggcgtAtaacagccaattcatgaacc	9	13	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:81053157A>C	uc001kaf.2	+	12	1549	c.977A>C	c.(976-978)TAT>TCT	p.Y326S	ZMIZ1_uc001kag.2_Missense_Mutation_p.Y202S|ZMIZ1_uc001kah.1_Missense_Mutation_p.Y208S	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	326					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ACCCAGGCGTATAACAGCCAA	0.552													C	81053157	A	C	81053157	3	2	12	1	0	0	0	0	1	0	0	0	17693	449	16	5	1007	5	ZMIZ1	10	81053157	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2208751	81053157	54481590	722	10730											
FAM35A	54537	broad.mit.edu	37	chr10	88950340	88950340	+	Frame_Shift_Del	DEL	T	T	-													tgtattaaagattcagagccTttttgtgttagatgaaaaca							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:88950339_88950339CT>C	uc001kei.4	+	8	2521	c.2407_2407CT>C	c.(2407-2409)cttfs	p.L803fs	FAM35A_uc001kej.4_Frame_Shift_Del_p.L249fs	NM_019054	NP_061927	Q86V20	FA35A_HUMAN	Homo sapiens family with sequence similarity 35, member A (FAM35A), mRNA.	803										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GATTCAGAGCCTTTTTGTGTT	0.453													-	88950340	T	-	88950340	7	5	12	1	0	1	0	1	0	0	0	0	5553	1609	56	0	2434	0	FAM35A	10	88950340	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	7897183	88950340	46584407	723	10731											
PTEN	5728	broad.mit.edu	37	chr10	89717770	89717770	+	Frame_Shift_Del	DEL	A	A	-													cacaaacagaacaagatgctAaaaaaggtttgtactttact							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:89717770delA	uc001kfb.2	+	8	1826	c.795delA	c.(793-795)CTAfs	p.L265fs		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	265	C2 tensin-type.			KMLKKDK->AAGAADA: Reduces the growth suppression activity and cells show anchorage-independent growth. Reduces binding to phospholipid membranes in vitro. Phosphatase activity towards PtdIns(3,4,5)P3 is not affected.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.K267fs*9(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.D268fs*30(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACAAGATGCTAAAAAAGGTTT	0.348		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89717770	A	-	89717770	7	5	12	1	0	1	0	1	0	0	0	0	12738	349	13	0	821	0	PTEN	10	89717770	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	767430	89717770	45816977	724	10732											
KIF11	3832	broad.mit.edu	37	chr10	94392365	94392365	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttttggcaaaaacctgaaTagtctgtttaataatatgga	7	4	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:94392365T>C	uc001kic.2	+	13	1925	c.1617T>C	c.(1615-1617)AAT>AAC	p.N539N	KIF11_uc010qnq.1_Intron	NM_004523	NP_004514	P52732	KIF11_HUMAN	kinesin family member 11	539					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			skin(1)	1						AAAACCTGAATAGTCTGTTTA	0.383													C	94392365	T	C	94392365	2	2	12	1	0	0	0	0	0	0	0	1	8272	1403	49	3		3	KIF11	10	94392365	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	4674595	94392365	41142382	725	10733											
EXOC6	54536	broad.mit.edu	37	chr10	94733809	94733809	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttattttgtcccatgtcaGgatgctcgacatgcagcaga	10	9	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:94733809G>T	uc001kig.2	+	18	1840	c.1774_splice	c.e18-1	p.D592_splice	EXOC6_uc010qnr.1_Splice_Site_p.D608_splice|EXOC6_uc001kie.2_Splice_Site_p.D587_splice|EXOC6_uc009xub.2_Splice_Site_p.D591_splice|EXOC6_uc009xuc.2_Splice_Site_p.D489_splice|EXOC6_uc001kih.2_Splice_Site|EXOC6_uc001kii.2_Splice_Site_p.D166_splice	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN	SEC15-like 1 isoform a						protein transport|vesicle docking involved in exocytosis	exocyst				skin(1)	1		Colorectal(252;0.123)				TCCCATGTCAGGATGCTCGAC	0.318													T	94733809	G	T	94733809	5	4	12	1	0	0	0	0	0	0	1	0	5308	1014	35	5	1933	5	EXOC6	10	94733809	Splice_Site	SNP	G	TCGA-BR-4257-01A-01D-1126-08	341444	94733809	40800938	726	10734											
MYOF	26509	broad.mit.edu	37	chr10	95079681	95079681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtagtcaaacgggaaaAcaaatcgccagttaaaattc	9	7	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:95079681A>G	uc001kin.2	-	49	5669	c.5546T>C	c.(5545-5547)GTT>GCT	p.V1849A	MYOF_uc001kio.2_Missense_Mutation_p.V1836A|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1849	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						AAACGGGAAAACAAATCGCCA	0.438													G	95079681	A	G	95079681	3	3	12	1	0	0	0	0	1	0	0	0	10089	43	2	3	663	3	MYOF	10	95079681	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	345872	95079681	40455066	727	10735											
OPALIN	93377	broad.mit.edu	37	chr10	98105764	98105764	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttccatttctatagtaggAcggtaacggtcatgcacagg	10	9	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:98105764A>G	uc001kmj.2	-	6	799	c.360T>C	c.(358-360)CGT>CGC	p.R120R	OPALIN_uc010qor.1_Silent_p.R110R|OPALIN_uc001kmi.2_Silent_p.R110R|OPALIN_uc001kmk.2_Silent_p.R97R|OPALIN_uc010qos.1_RNA	NM_033207	NP_149984	Q96PE5	OPALI_HUMAN	transmembrane protein 10 isoform a	120						Golgi apparatus|integral to membrane|plasma membrane					0						CTATAGTAGGACGGTAACGGT	0.517													G	98105764	A	G	98105764	2	3	12	1	0	0	0	0	0	0	0	1	10873	262	10	3		3	OPALIN	10	98105764	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	3026083	98105764	37428983	728	10736											
HPS1	3257	broad.mit.edu	37	chr10	100182223	100182223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccatctgcccagtggtgCggtccacatagatgaagtgc	11	13	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:100182223C>T	uc010qpf.1	-	17	1892	c.1646G>A	c.(1645-1647)CGC>CAC	p.R549H	HPS1_uc001kpi.1_Missense_Mutation_p.R550H|HPS1_uc001kpj.1_Missense_Mutation_p.R457H|HPS1_uc001kpk.1_Missense_Mutation_p.R374H	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1 protein isoform a	549					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			skin(1)	1		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CCCAGTGGTGCGGTCCACATA	0.562									Hermansky-Pudlak_syndrome				T	100182223	C	T	100182223	3	4	12	1	0	0	0	0	1	0	0	0	7339	768	27	1	472	1	HPS1	10	100182223	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2076459	100182223	35352524	729	10737											
ABCC2	1244	broad.mit.edu	37	chr10	101553677	101553677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctaatctagcctactcctGcctgttcttcatctcctacg	4	15	5	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:101553677G>A	uc001kqf.2	+	5	636	c.497G>A	c.(496-498)TGC>TAC	p.C166Y		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	166	Helical; Name=5; (By similarity).					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GCCTACTCCTGCCTGTTCTTC	0.388													A	101553677	G	A	101553677	3	1	12	1	0	0	0	0	1	0	0	0	53	1319	46	2	515	2	ABCC2	10	101553677	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1371454	101553677	33981070	730	10738											
FAM178A	55719	broad.mit.edu	37	chr10	102710474	102710474	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcatttagtcggtgaAgttagttgttctcattcttt	7	7	4	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:102710474A>C	uc001krt.3	+	17	3836	c.3294A>C	c.(3292-3294)GAA>GAC	p.E1098D	FAM178A_uc001krs.2_Missense_Mutation_p.E1098D	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	1098											0						TAGTCGGTGAAGTTAGTTGTT	0.294													C	102710474	A	C	102710474	3	2	12	1	0	0	0	0	1	0	0	0	5503	69	3	5	3360	5	FAM178A	10	102710474	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1156797	102710474	32824273	731	10739											
BTRC	8945	broad.mit.edu	37	chr10	103292822	103292822	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaggatcatcggattccacGgtcaggtagaaaatttcaaa	9	8	3	1	rs61751508		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:103292822G>T	uc001kta.2	+	9	1205	c.1092G>T	c.(1090-1092)ACG>ACT	p.T364T	BTRC_uc001ktb.2_Silent_p.T328T|BTRC_uc001ktc.2_Silent_p.T338T	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing protein	364	WD 2.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CGGATTCCACGGTCAGGTAGA	0.398													T	103292822	G	T	103292822	2	4	12	1	0	0	0	0	0	0	0	1	1569	1103	39	5		5	BTRC	10	103292822	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	582348	103292822	32241925	732	10740											
PSD	5662	broad.mit.edu	37	chr10	104173805	104173805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgaggccaaggcctccagcGaggcgaggctggtataggag	18	9	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:104173805G>A	uc001kvg.1	-	5	1801	c.1274C>T	c.(1273-1275)TCG>TTG	p.S425L	PSD_uc001kvh.1_Missense_Mutation_p.S46L|PSD_uc009xxd.1_Missense_Mutation_p.S425L	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	425					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGCCTCCAGCGAGGCGAGGCT	0.652													A	104173805	G	A	104173805	3	1	12	1	0	0	0	0	1	0	0	0	12646	1059	37	1	1852	1	PSD	10	104173805	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	880983	104173805	31360942	733	10741											
COL17A1	1308	broad.mit.edu	37	chr10	105798255	105798255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccagggggccctggcggGcctgacacgtacatggtact	16	13	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:105798255G>A	uc001kxr.2	-	45	3148	c.2979C>T	c.(2977-2979)GGC>GGT	p.G993G		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	993	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCCCTGGCGGGCCTGACACGT	0.592													A	105798255	G	A	105798255	2	1	12	1	0	0	0	0	0	0	0	1	3674	1190	42	2		2	COL17A1	10	105798255	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1624450	105798255	29736492	734	10742											
SMC3	9126	broad.mit.edu	37	chr10	112343281	112343281	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccaaggatttacaagatgAactagcaggcaatagtgaac	10	7	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:112343281A>G	uc001kze.2	+	11	1070	c.944A>G	c.(943-945)GAA>GGA	p.E315G		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	315	Potential.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TTACAAGATGAACTAGCAGGC	0.388													G	112343281	A	G	112343281	3	3	12	1	0	0	0	0	1	0	0	0	14784	246	9	3	986	3	SMC3	10	112343281	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	6545026	112343281	23191466	735	10743											
EMX2	2018	broad.mit.edu	37	chr10	119305240	119305240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccgtcccagcttctaagGctggaacacgcctttgagaa	9	14	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:119305240G>A	uc001ldh.3	+	2	1327	c.504G>A	c.(502-504)AGG>AGA	p.R168R	EMX2OS_uc001ldg.2_5'Flank|EMX2_uc001ldi.3_Intron	NM_004098	NP_004089	Q04743	EMX2_HUMAN	empty spiracles homeobox 2 isoform 1	168	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		AGCTTCTAAGGCTGGAACACG	0.607													A	119305240	G	A	119305240	2	1	12	1	0	0	0	0	0	0	0	1	5108	1194	42	2		2	EMX2	10	119305240	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	6961959	119305240	16229507	736	10744											
TIAL1	7073	broad.mit.edu	37	chr10	121339499	121339499	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttggattttccagttgccAtgtctttaactacccgggca	8	11	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:121339499A>G	uc001lei.1	-	6	959	c.395T>C	c.(394-396)ATG>ACG	p.M132T	TIAL1_uc001leh.1_Missense_Mutation_p.M110T|TIAL1_uc001lej.1_Missense_Mutation_p.M149T|TIAL1_uc001lek.1_Missense_Mutation_p.M9T|TIAL1_uc009xzi.1_Missense_Mutation_p.M1T|TIAL1_uc010qtb.1_Missense_Mutation_p.M9T	NM_003252	NP_003243	Q01085	TIAR_HUMAN	TIA-1 related protein isoform 1	132	RRM 2.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			ovary(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		TCCAGTTGCCATGTCTTTAAC	0.358													G	121339499	A	G	121339499	3	3	12	1	0	0	0	0	1	0	0	0	15886	217	8	3	760	3	TIAL1	10	121339499	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2034259	121339499	14195248	737	10745											
TACC2	10579	broad.mit.edu	37	chr10	123892188	123892188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggaaagcccaaccttaGctgcctcttcctaccacggt	7	16	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:123892188G>A	uc001lfv.2	+	6	5998	c.5638G>A	c.(5638-5640)GCT>ACT	p.A1880T	TACC2_uc001lfw.2_Missense_Mutation_p.A71T|TACC2_uc009xzx.2_Missense_Mutation_p.A1880T|TACC2_uc010qtv.1_Missense_Mutation_p.A1929T|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1880						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCCAACCTTAGCTGCCTCTTC	0.567													A	123892188	G	A	123892188	3	1	12	1	0	0	0	0	1	0	0	0	15499	971	34	2	5656	2	TACC2	10	123892188	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2552689	123892188	11642559	738	10746											
DMBT1	1755	broad.mit.edu	37	chr10	124391375	124391375	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctattcctttttcaggaaaCcatctatcgacacctggtaa	5	11	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:124391375C>T	uc001lgk.1	+	47	6070	c.5964C>T	c.(5962-5964)AAC>AAT	p.N1988N	DMBT1_uc001lgl.1_Silent_p.N1978N|DMBT1_uc001lgm.1_Silent_p.N1360N|DMBT1_uc009xzz.1_Silent_p.N1988N|DMBT1_uc010qtx.1_Silent_p.N708N|DMBT1_uc009yab.1_Silent_p.N691N|DMBT1_uc009yac.1_Silent_p.N282N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1988					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTTCAGGAAACCATCTATCGA	0.493													T	124391375	C	T	124391375	2	4	12	1	0	0	0	0	0	0	0	1	4577	506	18	4		4	DMBT1	10	124391375	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	499187	124391375	11143372	739	10747											
FAM24A	118670	broad.mit.edu	37	chr10	124671216	124671216	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcagcttactggttgcCgcgatggtgctcctaagtgt	14	9	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:124671216C>T	uc001lgv.2	+	2	187	c.66C>T	c.(64-66)GCC>GCT	p.A22A		NM_001029888	NP_001025059	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	22						extracellular region				ovary(2)	2		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TACTGGTTGCCGCGATGGTGC	0.473													T	124671216	C	T	124671216	2	4	12	1	0	0	0	0	0	0	0	1	5547	639	23	1		1	FAM24A	10	124671216	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	279841	124671216	10863531	740	10748											
BUB3	9184	broad.mit.edu	37	chr10	124917344	124917344	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgggatcagacagttaaacTgtgggatcccagaactcctt	10	9	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:124917344T>C	uc001lhe.2	+	4	607	c.365T>C	c.(364-366)CTG>CCG	p.L122P	BUB3_uc009yah.2_Missense_Mutation_p.L74P|BUB3_uc001lhf.3_Missense_Mutation_p.L122P|BUB3_uc001lhd.2_Missense_Mutation_p.L122P|BUB3_uc010qud.1_Missense_Mutation_p.L42P	NM_004725	NP_004716	O43684	BUB3_HUMAN	budding uninhibited by benzimidazoles 3 isoform	122	WD 3.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			ovary(1)	1		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				ACAGTTAAACTGTGGGATCCC	0.448													C	124917344	T	C	124917344	3	2	12	1	0	0	0	0	1	0	0	0	1572	1580	55	3	375	3	BUB3	10	124917344	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	246128	124917344	10617403	741	10749											
C10orf137	26098	broad.mit.edu	37	chr10	127412448	127412448	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggcagtacaccgcataggAaggactctcttactagatga	10	9	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:127412448A>G	uc001liq.1	+	4	746	c.453A>G	c.(451-453)GGA>GGG	p.G151G	C10orf137_uc001lin.2_Silent_p.G151G|C10orf137_uc001lio.1_Silent_p.G151G|C10orf137_uc001lip.1_5'UTR	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ACCGCATAGGAAGGACTCTCT	0.348													G	127412448	A	G	127412448	2	3	12	1	0	0	0	0	0	0	0	1	1594	233	9	3		3	C10orf137	10	127412448	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2495104	127412448	8122299	742	10750											
DOCK1	1793	broad.mit.edu	37	chr10	128795065	128795065	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatgggaatattttggatcCagaattaactagcacgatta	9	5	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:128795065C>A	uc001ljt.2	+	7	591	c.527C>A	c.(526-528)CCA>CAA	p.P176Q	DOCK1_uc010qun.1_Missense_Mutation_p.P176Q	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	176					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ATTTTGGATCCAGAATTAACT	0.378													A	128795065	C	A	128795065	3	1	12	1	0	0	0	0	1	0	0	0	4684	594	21	5	553	5	DOCK1	10	128795065	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1382617	128795065	6739682	743	10751											
DOCK1	1793	broad.mit.edu	37	chr10	128798457	128798458	+	Frame_Shift_Ins	INS	-	-	A													cctcggaagcaaagacctgaINSaaagggagaaaatcagtttt							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:128798456_128798457G>GA	uc010qun.2	+	9	934_935	c.870_871G>GA	c.(868-873)ctgaaafs	p.L290fs	DOCK1_uc001ljt.3_Frame_Shift_Ins_p.L290fs	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	290					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GCAAAGACCTGAAAAGGGAGAA	0.441													A	128798458	-	A	128798457	7	5	12	1	0	1	1	0	0	0	0	0	4684	247	9	0	909	0	DOCK1	10	128798457	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	3392	128798457	6736290	744	10752											
PAOX	196743	broad.mit.edu	37	chr10	135195102	135195102	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggagacctttccagtgtcGgtagagtgtgaggatggaga	18	5	0	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:135195102G>A	uc001lmv.2	+	3	887	c.807G>A	c.(805-807)TCG>TCA	p.S269S	PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Silent_p.S269S|PAOX_uc001lmy.2_Silent_p.S269S|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	polyamine oxidase isoform 1	407					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TTCCAGTGTCGGTAGAGTGTG	0.582													A	135195102	G	A	135195102	2	1	12	1	0	0	0	0	0	0	0	1	11423	1103	39	1		1	PAOX	10	135195102	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	6396645	135195102	339645	745	10753											
PAOX	196743	broad.mit.edu	37	chr10	135195153	135195153	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgcaccatgtcatcgtcacCgtgcccttaggtaggtcagg	12	13	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:135195153C>A	uc001lmv.2	+	3	938	c.858C>A	c.(856-858)ACC>ACA	p.T286T	PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Silent_p.T286T|PAOX_uc001lmy.2_Silent_p.T286T|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	polyamine oxidase isoform 1	424					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TCATCGTCACCGTGCCCTTAG	0.617													A	135195153	C	A	135195153	2	1	12	1	0	0	0	0	0	0	0	1	11423	639	23	5		5	PAOX	10	135195153	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	51	135195153	339594	746	10754											
RIC8A	60626	broad.mit.edu	37	chr11	211202	211202	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccatctgtccccagccaCgcagtgaacctcctggggaa	9	17	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:211202C>T	uc001log.2	+	5	1147	c.822C>T	c.(820-822)CAC>CAT	p.H274H	RIC8A_uc001lof.2_Silent_p.H274H|RIC8A_uc001loh.2_Silent_p.H267H	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	resistance to inhibitors of cholinesterase 8	274						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity				0		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCCCCAGCCACGCAGTGAACC	0.552													T	211202	C	T	211202	2	4	12	1	0	0	0	0	0	0	0	1	13355	535	19	1		1	RIC8A	11	211202	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08		211202	134795314	747	10755											
B4GALNT4	338707	broad.mit.edu	37	chr11	372694	372695	+	Frame_Shift_Ins	INS	-	-	G													acctagacatgctgtttcctINSgggggggctgggaggctgcc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:372694_372695insG	uc001lpb.2	+	3	297_298	c.288_289insG	c.(286-291)CCTGGGfs	p.P96fs		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	96_97	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTGTTTCCTGGGGGGGCTGG	0.604													G	372695	-	G	372694	7	5	12	1	0	1	1	0	0	0	0	0	1269	1567	55	0	298	0	B4GALNT4	11	372694	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	161492	372694	134633822	748	10756											
NAP1L4	4676	broad.mit.edu	37	chr11	2991167	2991167	+	Splice_Site	DEL	A	A	-													tttacttttcatgtctccctAaaaaaaagatgcaacatagg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:2991166_2991166TA>T	uc010qxm.2	-	8	687	c.403_splice	c.e8-1	p.G135_splice	NAP1L4_uc001lxc.3_Splice_Site_p.G135_splice|NAP1L4_uc010qxn.2_Splice_Site_p.G135_splice	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.	135					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		CATGTCTCCCTAAAAAAAAGA	0.418													-	2991167	A	-	2991167	8	5	12	1	0	1	0	1	0	0	1	0	10159	377	13	0		0	NAP1L4	11	2991167	Splice_Site	DEL	A	TCGA-BR-4257-01A-01D-1126-08	2618473	2991167	132015349	749	10757											
NUP98	4928	broad.mit.edu	37	chr11	3721906	3721906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagtcatgaatgacagcaaCtcccagattggggacaatga	10	8	1	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:3721906C>T	uc001lyh.2	-	24	3967	c.3676G>A	c.(3676-3678)GTT>ATT	p.V1226I	NUP98_uc001lyi.2_Missense_Mutation_p.V1226I|NUP98_uc001lyg.2_Missense_Mutation_p.V191I	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1243					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ATGACAGCAACTCCCAGATTG	0.413			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								T	3721906	C	T	3721906	3	4	12	1	0	0	0	0	1	0	0	0	10773	565	20	4	1766	4	NUP98	11	3721906	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	730739	3721906	131284610	750	10758											
OR52J3	119679	broad.mit.edu	37	chr11	5068158	5068158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgctccactacattacGcaaccatcttgacatcccaa	4	15	2	1	rs143834741		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:5068158G>A	uc010qyv.1	+	1	403	c.403G>A	c.(403-405)GCA>ACA	p.A135T		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|lung(1)|skin(1)	3		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTACATTACGCAACCATCTT	0.483													A	5068158	G	A	5068158	3	1	12	1	0	0	0	0	1	0	0	0	11122	1087	38	1	405	1	OR52J3	11	5068158	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1346252	5068158	129938358	751	10759											
OR51B2	79345	broad.mit.edu	37	chr11	5344589	5344589	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgattctccagatccgagtTtaactactaaacctatgttt	5	10	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:5344589T>C	uc001mao.1	-	1	994	c.939A>G	c.(937-939)TAA>TAG	p.*313*	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B,	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATCCGAGTTTAACTACTAA	0.373													C	5344589	T	C	5344589	2	2	12	1	0	0	0	0	0	0	0	1	11089	1848	64	3		3	OR51B2	11	5344589	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	276431	5344589	129661927	752	10760											
TRIM22	10346	broad.mit.edu	37	chr11	5730360	5730360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagacaagtgaaaactgtaCgcacctgcacatttaagaat	8	8	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:5730360C>T	uc001mbr.2	+	8	1256	c.979C>T	c.(979-981)CGC>TGC	p.R327C	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Missense_Mutation_p.R323C|TRIM22_uc010qzm.1_Missense_Mutation_p.R155C|TRIM22_uc009yeu.2_Missense_Mutation_p.R138C|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	tripartite motif-containing 22	327	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding				0		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GAAAACTGTACGCACCTGCAC	0.413													T	5730360	C	T	5730360	3	4	12	1	0	0	0	0	1	0	0	0	16493	536	19	1	1005	1	TRIM22	11	5730360	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	385771	5730360	129276156	753	10761											
OR52E6	390078	broad.mit.edu	37	chr11	5862840	5862840	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctgagaaaggtagcctccAaaagatatttccttgatatt	7	7	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:5862840A>G	uc010qzq.1	-	1	288	c.288T>C	c.(286-288)TTT>TTC	p.F96F	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTAGCCTCCAAAAGATATTT	0.468													G	5862840	A	G	5862840	2	3	12	1	0	0	0	0	0	0	0	1	11117	127	5	3		3	OR52E6	11	5862840	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	132480	5862840	129143676	754	10762											
OR56A4	120793	broad.mit.edu	37	chr11	6023400	6023400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgttgagcaggatggggaCatctggaggaattctcttcc	14	7	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:6023400C>T	uc010qzv.1	-	1	979	c.979G>A	c.(979-981)GTC>ATC	p.V327I		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A,	275	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATGGGGACATCTGGAGGA	0.517													T	6023400	C	T	6023400	3	4	12	1	0	0	0	0	1	0	0	0	11135	478	17	4	120	4	OR56A4	11	6023400	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	160560	6023400	128983116	755	10763											
CYB5R2	51700	broad.mit.edu	37	chr11	7694000	7694000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttctcaatcaagggcagCgggtacttggcttcagggtc	12	10	4	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:7694000C>T	uc001mfm.2	-	2	295	c.57G>A	c.(55-57)CCG>CCA	p.P19P	CYB5R2_uc001mfn.2_RNA|CYB5R2_uc009yfk.2_Silent_p.P19P|CYB5R2_uc009yfl.1_Silent_p.P19P	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase b5R.2	19	FAD-binding FR-type.				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity				0				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCAAGGGCAGCGGGTACTTGG	0.552													T	7694000	C	T	7694000	2	4	12	1	0	0	0	0	0	0	0	1	4127	755	27	1		1	CYB5R2	11	7694000	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1670600	7694000	127312516	756	10764											
MICALCL	84953	broad.mit.edu	37	chr11	12315879	12315879	+	Frame_Shift_Del	DEL	A	A	-													cctgggccaagcaagaatccAaaactttgcccgcacaggcc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:12315878_12315878CA>C	uc001mkg.1	+	2	1191	c.900_900CA>C	c.(898-900)tccfs	p.S300fs		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	300					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		AGCAAGAATCCAAAACTTTGC	0.557													-	12315879	A	-	12315879	7	5	12	1	0	1	0	1	0	0	0	0	9572	131	5	0	907	0	MICALCL	11	12315879	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	4621879	12315879	122690637	757	10765											
BTBD10	84280	broad.mit.edu	37	chr11	13435077	13435077	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacaaaacatcatacttacTgagatctctacatttaatag	3	9	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:13435077T>C	uc001mkz.2	-	6	1065	c.808A>G	c.(808-810)AGT>GGT	p.S270G	BTBD10_uc010rcl.1_Missense_Mutation_p.S278G|BTBD10_uc001mla.2_Missense_Mutation_p.S254G|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Missense_Mutation_p.S222G|BTBD10_uc010rcn.1_Missense_Mutation_p.S239G|BTBD10_uc009ygo.2_Missense_Mutation_p.S222G	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	K+ channel tetramerization protein	270						nucleus					0				Epithelial(150;0.0214)		TCATACTTACTGAGATCTCTA	0.323													C	13435077	T	C	13435077	3	2	12	1	0	0	0	0	1	0	0	0	1538	1594	55	3	635	3	BTBD10	11	13435077	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1119198	13435077	121571439	758	10766											
FAR1	84188	broad.mit.edu	37	chr11	13729476	13729476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagttaaatgtgattgcaaCgcgacagcttattctccttg	8	9	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:13729476C>T	uc001mld.2	+	4	550	c.395C>T	c.(394-396)ACG>ATG	p.T132M	FAR1_uc009ygp.2_Missense_Mutation_p.T132M	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	132					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			ovary(1)|skin(1)	2						GTGATTGCAACGCGACAGCTT	0.338													T	13729476	C	T	13729476	3	4	12	1	0	0	0	0	1	0	0	0	5674	536	19	1	405	1	FAR1	11	13729476	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	294399	13729476	121277040	759	10767											
SERGEF	26297	broad.mit.edu	37	chr11	18028253	18028253	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgaccaagccccagttgCccatctttgttcaggccaca	9	14	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:18028253C>T	uc001mnm.2	-	3	317	c.237G>A	c.(235-237)GGG>GGA	p.G79G	SERGEF_uc009yhd.2_RNA|SERGEF_uc001mnn.2_Silent_p.G79G|SERGEF_uc010rcz.1_5'UTR|SERGEF_uc001mno.1_5'UTR	NM_012139	NP_036271	Q9UGK8	SRGEF_HUMAN	deafness locus associated putative guanine	79	RCC1 2.				negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1						GCCCCAGTTGCCCATCTTTGT	0.473													T	18028253	C	T	18028253	2	4	12	1	0	0	0	0	0	0	0	1	14077	726	26	2		2	SERGEF	11	18028253	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	4298777	18028253	116978263	760	10768											
NAV2	89797	broad.mit.edu	37	chr11	19970272	19970272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgacaccaatgtcaccaCggagatgagtggccgtagca	12	10	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:19970272C>T	uc010rdm.1	+	11	2721	c.2360C>T	c.(2359-2361)ACG>ATG	p.T787M	NAV2_uc001mpp.2_Missense_Mutation_p.T700M|NAV2_uc001mpr.3_Missense_Mutation_p.T764M	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	787						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						AATGTCACCACGGAGATGAGT	0.517													T	19970272	C	T	19970272	3	4	12	1	0	0	0	0	1	0	0	0	10184	536	19	1	2408	1	NAV2	11	19970272	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1942019	19970272	115036244	761	10769											
HTATIP2	10553	broad.mit.edu	37	chr11	20385903	20385903	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttaaaggaaatcctggaGcagggcctgttttccaaagt	10	9	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:20385903G>A	uc009yia.1	+	2	186	c.120G>A	c.(118-120)GAG>GAA	p.E40E	HTATIP2_uc009yib.1_Silent_p.E40E|HTATIP2_uc001mpx.2_Silent_p.E74E|HTATIP2_uc001mpz.2_Silent_p.E40E|HTATIP2_uc001mpy.3_Silent_p.E40E	NM_006410	NP_006401	Q9BUP3	HTAI2_HUMAN	HIV-1 Tat interactive protein 2, 30kDa isoform	40	NADP.				angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity				0						AAATCCTGGAGCAGGGCCTGT	0.498													A	20385903	G	A	20385903	2	1	12	1	0	0	0	0	0	0	0	1	7432	962	34	2		2	HTATIP2	11	20385903	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	415631	20385903	114620613	762	10770											
LGR4	55366	broad.mit.edu	37	chr11	27401816	27401817	+	Splice_Site	DEL	AC	AC	-													ctcttcaaagggccttacttAcagactttccaggtggacag							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:27401815_27401816TAC>T	uc001mrj.4	-	10	1456	c.971_splice	c.e10+1	p.L324_splice	LGR4_uc001mrk.4_Splice_Site_p.L300_splice	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	324						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GGGCCTTACTTACAGACTTTCC	0.436													-	27401817	AC	-	27401816	8	5	12	1	0	1	0	1	0	0	1	0	8756	405	14	0	1918	0	LGR4	11	27401816	Splice_Site	DEL	AC	TCGA-BR-4257-01A-01D-1126-08	7015913	27401816	107604700	763	10771											
PAX6	5080	broad.mit.edu	37	chr11	31812317	31812317	+	Frame_Shift_Del	DEL	G	G	-													tcatgtgtgtctgcatatgtGggggggtgtaggtatcataa							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:31812317delG	uc001mtd.3	-	11	2014	c.1124delC	c.(1123-1125)CCAfs	p.P375fs	PAX6_uc001mte.3_Frame_Shift_Del_p.P375fs|PAX6_uc001mtg.3_Frame_Shift_Del_p.P389fs|PAX6_uc001mtf.3_Frame_Shift_Del_p.P375fs|PAX6_uc001mth.3_Frame_Shift_Del_p.P375fs|PAX6_uc009yjr.2_Frame_Shift_Del_p.P375fs	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					CTGCATATGTGGGGGGGTGTA	0.587									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				-	31812317	G	-	31812317	7	5	12	1	0	1	0	1	0	0	0	0	11483	1348	47	0	152	0	PAX6	11	31812317	Frame_Shift_Del	DEL	G	TCGA-BR-4257-01A-01D-1126-08	4410501	31812317	103194199	764	10772											
FBXO3	26273	broad.mit.edu	37	chr11	33772171	33772171	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaactgacacagtaatatcCccagttgttgctacacattc	6	11	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:33772171C>T	uc001muz.2	-	8	874	c.846G>A	c.(844-846)GGG>GGA	p.G282G	FBXO3_uc010rej.1_5'UTR|FBXO3_uc001muy.2_Silent_p.G169G|FBXO3_uc009ykb.2_RNA|FBXO3_uc001mva.1_Silent_p.G282G|FBXO3_uc001mvb.1_Silent_p.G277G|FBXO3_uc010rek.1_RNA	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	F-box only protein 3 isoform 1	282	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			pancreas(1)	1		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		CAGTAATATCCCCAGTTGTTG	0.348													T	33772171	C	T	33772171	2	4	12	1	0	0	0	0	0	0	0	1	5739	610	22	4		4	FBXO3	11	33772171	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1959854	33772171	101234345	765	10773											
RAG1	5896	broad.mit.edu	37	chr11	36595732	36595732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtgaaatccatctcctGccagatctgtgaacacattc	6	12	2	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:36595732G>A	uc001mwu.3	+	2	1002	c.878G>A	c.(877-879)TGC>TAC	p.C293Y	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	293	RING-type.	Zinc 2 (By similarity).			histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				TCCATCTCCTGCCAGATCTGT	0.488									Familial_Hemophagocytic_Lymphohistiocytosis				A	36595732	G	A	36595732	3	1	12	1	0	0	0	0	1	0	0	0	13003	1319	46	2	880	2	RAG1	11	36595732	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2823561	36595732	98410784	766	10774											
API5	8539	broad.mit.edu	37	chr11	43356827	43356827	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctgatttctgtctctgcaGgatctcttccacattcctcc	6	15	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:43356827G>T	uc010rfh.1	+	12	1452	c.1279_splice	c.e12-1	p.D427_splice	API5_uc010rfg.1_Splice_Site_p.D416_splice|API5_uc001mxf.2_Splice_Site_p.D427_splice|API5_uc010rfi.1_Splice_Site_p.D373_splice|API5_uc001mxg.2_Splice_Site_p.D301_splice	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5 isoform a						anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						TGTCTCTGCAGGATCTCTTCC	0.388													T	43356827	G	T	43356827	5	4	12	1	0	0	0	0	0	0	1	0	773	1014	35	5	1324	5	API5	11	43356827	Splice_Site	SNP	G	TCGA-BR-4257-01A-01D-1126-08	6761095	43356827	91649689	767	10775											
ALKBH3	221120	broad.mit.edu	37	chr11	43911304	43911304	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatcctggctttgttgacgTgaaagaagctgactggatat	12	6	0	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:43911304T>C	uc001mxs.2	+	6	739	c.296T>C	c.(295-297)GTG>GCG	p.V99A	ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_5'UTR	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN	AlkB homolog 3	99					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)	TTTGTTGACGTGAAAGAAGCT	0.423								Direct_reversal_of_damage					C	43911304	T	C	43911304	3	2	12	1	0	0	0	0	1	0	0	0	528	1696	59	3	314	3	ALKBH3	11	43911304	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	554477	43911304	91095212	768	10776											
ALX4	60529	broad.mit.edu	37	chr11	44289061	44289061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgggcgtagttctcagCtcgggtgaggaggggcagct	17	9	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:44289061C>T	uc001myb.2	-	3	993	c.889G>A	c.(889-891)GCT>ACT	p.A297T		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	297					hair follicle development						0						TAGTTCTCAGCTCGGGTGAGG	0.632													T	44289061	C	T	44289061	3	4	12	1	0	0	0	0	1	0	0	0	558	797	28	2	354	2	ALX4	11	44289061	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	377757	44289061	90717455	769	10777											
ALX4	60529	broad.mit.edu	37	chr11	44297062	44297062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgttgctctctgagtcggCcttctccaatgggctgggga	13	11	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:44297062C>T	uc001myb.2	-	2	717	c.613G>A	c.(613-615)GCC>ACC	p.A205T		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	205					hair follicle development						0						TCTGAGTCGGCCTTCTCCAAT	0.622													T	44297062	C	T	44297062	3	4	12	1	0	0	0	0	1	0	0	0	558	739	26	2	634	2	ALX4	11	44297062	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	8001	44297062	90709454	770	10778											
ZNF408	79797	broad.mit.edu	37	chr11	46727164	46727164	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggcaccctgcagcccaccCtctgtgccttctgctgcttc	9	18	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:46727164C>A	uc001nde.1	+	5	2144	c.1914C>A	c.(1912-1914)CCC>CCA	p.P638P	ZNF408_uc010rgw.1_Silent_p.P630P	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	638					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding				0						GCAGCCCACCCTCTGTGCCTT	0.662													A	46727164	C	A	46727164	2	1	12	1	0	0	0	0	0	0	0	1	17885	668	24	5		5	ZNF408	11	46727164	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2430102	46727164	88279352	771	10779											
ACP2	53	broad.mit.edu	37	chr11	47264672	47264672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagggcaaccagggtagtgtCgtgctgcgggggagaggggc	21	8	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:47264672C>T	uc001nei.2	-	9	976	c.859G>A	c.(859-861)GAC>AAC	p.D287N	ACP2_uc010rhe.1_Missense_Mutation_p.D259N|ACP2_uc009ylj.2_Missense_Mutation_p.D215N|ACP2_uc010rhf.1_Missense_Mutation_p.D255N|ACP2_uc010rhg.1_Missense_Mutation_p.D224N|ACP2_uc010rhh.1_Missense_Mutation_p.D100N|ACP2_uc010rhi.1_Missense_Mutation_p.D100N|ACP2_uc009ylk.2_Missense_Mutation_p.D254N	NM_001610	NP_001601	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal isoform 1	287	Lumenal (Potential).	Proton donor (By similarity).				integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			ovary(1)	1						AGGGTAGTGTCGTGCTGCGGG	0.567													T	47264672	C	T	47264672	3	4	12	1	0	0	0	0	1	0	0	0	163	884	31	1	424	1	ACP2	11	47264672	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	537508	47264672	87741844	772	10780											
MADD	8567	broad.mit.edu	37	chr11	47307054	47307054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactggcaagtgactcagatGcagagtcagactctcgggca	13	10	3	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:47307054G>A	uc001ner.1	+	14	2655	c.2464G>A	c.(2464-2466)GCA>ACA	p.A822T	MADD_uc001neq.2_Missense_Mutation_p.A822T|MADD_uc001nev.1_Missense_Mutation_p.A779T|MADD_uc001nes.1_Missense_Mutation_p.A779T|MADD_uc001net.1_Missense_Mutation_p.A822T|MADD_uc009yln.1_Missense_Mutation_p.A779T|MADD_uc001neu.1_Missense_Mutation_p.A779T|MADD_uc001nex.2_Missense_Mutation_p.A822T|MADD_uc001nez.2_Missense_Mutation_p.A779T|MADD_uc001new.2_Missense_Mutation_p.A822T	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	822					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		TGACTCAGATGCAGAGTCAGA	0.572													A	47307054	G	A	47307054	3	1	12	1	0	0	0	0	1	0	0	0	9152	1319	46	2	2514	2	MADD	11	47307054	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	42382	47307054	87699462	773	10781											
KBTBD4	55709	broad.mit.edu	37	chr11	47599015	47599015	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtggagaaattcctctgtAttctgcagctgggccaggtg	13	8	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:47599015A>G	uc001nfx.2	-	2	708	c.537T>C	c.(535-537)AAT>AAC	p.N179N	NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Silent_p.N204N|KBTBD4_uc001nfz.2_Silent_p.N195N|KBTBD4_uc001nfy.2_Silent_p.N179N|NDUFS3_uc010rhn.1_5'Flank|NDUFS3_uc001nga.2_5'Flank	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	179	BACK.									ovary(1)|central_nervous_system(1)	2						ATTCCTCTGTATTCTGCAGCT	0.537													G	47599015	A	G	47599015	2	3	12	1	0	0	0	0	0	0	0	1	7995	446	16	3		3	KBTBD4	11	47599015	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	291961	47599015	87407501	774	10782											
NUP160	23279	broad.mit.edu	37	chr11	47859139	47859139	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaagcaatcgttgcattActgaactctgtttcagttcc	7	10	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:47859139A>G	uc001ngm.2	-	5	870	c.785T>C	c.(784-786)GTA>GCA	p.V262A	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	262					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						TCGTTGCATTACTGAACTCTG	0.448													G	47859139	A	G	47859139	3	3	12	1	0	0	0	0	1	0	0	0	10757	391	14	3	3653	3	NUP160	11	47859139	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	260124	47859139	87147377	775	10783											
PTPRJ	5795	broad.mit.edu	37	chr11	48161113	48161113	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttctcaaatggacctgccCtcctggcgccaatgcaggct	11	14	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:48161113C>A	uc001ngp.3	+	11	2583	c.2228C>A	c.(2227-2229)CCT>CAT	p.P743H	PTPRJ_uc010rhr.1_Missense_Mutation_p.P188H	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	743	Extracellular (Potential).|Fibronectin type-III 8.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						TGGACCTGCCCTCCTGGCGCC	0.577													A	48161113	C	A	48161113	3	1	12	1	0	0	0	0	1	0	0	0	12804	681	24	5	2279	5	PTPRJ	11	48161113	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	301974	48161113	86845403	776	10784											
OR4S1	256148	broad.mit.edu	37	chr11	48327840	48327840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgagagcagagagatgcaGcatacatgctttgtggtatt	12	5	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:48327840G>A	uc010rhu.1	+	1	66	c.66G>A	c.(64-66)CAG>CAA	p.Q22Q		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GAGAGATGCAGCATACATGCT	0.463													A	48327840	G	A	48327840	2	1	12	1	0	0	0	0	0	0	0	1	11082	962	34	2		2	OR4S1	11	48327840	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	166727	48327840	86678676	777	10785											
OR4C46	119749	broad.mit.edu	37	chr11	51515845	51515845	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcaacctcgcctgcacTgacacccatatgctggaact	7	15	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:51515845T>C	uc010ric.1	+	1	564	c.564T>C	c.(562-564)ACT>ACC	p.T188T		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	188	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TCGCCTGCACTGACACCCATA	0.458													C	51515845	T	C	51515845	2	2	12	1	0	0	0	0	0	0	0	1	11051	1567	55	3		3	OR4C46	11	51515845	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	3188005	51515845	83490671	778	10786											
SPRYD5	84767	broad.mit.edu	37	chr11	55659079	55659079	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccttctcacctcctctcAggcctatcttttgctgtagt	6	15	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:55659079A>G	uc010rip.1	+	7	1422	c.1330A>G	c.(1330-1332)AGG>GGG	p.R444G	SPRYD5_uc010riq.1_Missense_Mutation_p.R301G	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	444	B30.2/SPRY.					intracellular	zinc ion binding				0		all_epithelial(135;0.226)				ACCTCCTCTCAGGCCTATCTT	0.448													G	55659079	A	G	55659079	3	3	12	1	0	0	0	0	1	0	0	0	15110	179	7	3	1352	3	SPRYD5	11	55659079	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	4143234	55659079	79347437	779	10787											
OR8K5	219453	broad.mit.edu	37	chr11	55927697	55927697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgattaggtagatgaCgaggaagactccaaaaaggg	13	6	0	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:55927697C>T	uc010rja.1	-	1	97	c.97G>A	c.(97-99)GTC>ATC	p.V33I		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AGGTAGATGACGAGGAAGACT	0.433													T	55927697	C	T	55927697	3	4	12	1	0	0	0	0	1	0	0	0	11245	536	19	1	829	1	OR8K5	11	55927697	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	268618	55927697	79078819	780	10788											
OR5T2	219464	broad.mit.edu	37	chr11	56000210	56000210	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccattgcagccaagagaaagCattctgtggttccaaaacta	8	10	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:56000210C>A	uc010rjc.1	-	1	452	c.452G>T	c.(451-453)TGC>TTC	p.C151F		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	151	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					CAAGAGAAAGCATTCTGTGGT	0.418													A	56000210	C	A	56000210	3	1	12	1	0	0	0	0	1	0	0	0	11182	710	25	5	626	5	OR5T2	11	56000210	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	72513	56000210	79006306	781	10789											
P2RX3	5024	broad.mit.edu	37	chr11	57117371	57117371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgccaaactggcgcgcaCggtgaggacctagccattct	11	12	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:57117371C>T	uc001nju.2	+	7	780	c.704C>T	c.(703-705)ACG>ATG	p.T235M		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	235	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						CTGGCGCGCACGGTGAGGACC	0.637											OREG0020966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	57117371	C	T	57117371	3	4	12	1	0	0	0	0	1	0	0	0	11341	550	19	1	730	1	P2RX3	11	57117371	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1117161	57117371	77889145	782	10790											
PRG3	10394	broad.mit.edu	37	chr11	57146997	57146997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaagttttaggagtccgCaccaataggtagcggcagat	12	8	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:57146997C>T	uc001njv.1	-	3	455	c.345G>A	c.(343-345)GTG>GTA	p.V115V		NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3 precursor	115	C-type lectin.				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding				0						TAGGAGTCCGCACCAATAGGT	0.512													T	57146997	C	T	57146997	2	4	12	1	0	0	0	0	0	0	0	1	12480	697	25	2		2	PRG3	11	57146997	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	29626	57146997	77859519	783	10791											
TIMM10	26519	broad.mit.edu	37	chr11	57296267	57296267	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caactctgtcaactttttgcCcatccgctcatggatgtcca	6	14	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:57296267C>A	uc001nkm.1	-	3	343	c.196G>T	c.(196-198)GGC>TGC	p.G66C		NM_012456	NP_036588	P62072	TIM10_HUMAN	translocase of inner mitochondrial membrane 10	66					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	zinc ion binding				0						AACTTTTTGCCCATCCGCTCA	0.542													A	57296267	C	A	57296267	3	1	12	1	0	0	0	0	1	0	0	0	15902	623	22	5	80	5	TIMM10	11	57296267	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	149270	57296267	77710249	784	10792											
MPEG1	219972	broad.mit.edu	37	chr11	58979300	58979300	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatctgtgcagccagggtAggtgttgaatgtataatagc	14	5	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:58979300A>G	uc001nnu.3	-	1	1195	c.1039T>C	c.(1039-1041)TAC>CAC	p.Y347H		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	347	Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)				CAGCCAGGGTAGGTGTTGAAT	0.502													G	58979300	A	G	58979300	3	3	12	1	0	0	0	0	1	0	0	0	9723	420	15	3	1115	3	MPEG1	11	58979300	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1683033	58979300	76027216	785	10793											
MS4A13	503497	broad.mit.edu	37	chr11	60296882	60296882	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttactgttcttctacggTttggaattttctattgcact	6	7	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:60296882T>G	uc001nps.2	+	6	674	c.351T>G	c.(349-351)GGT>GGG	p.G117G	MS4A13_uc009ync.2_Silent_p.G77G|MS4A13_uc009ynd.2_Silent_p.G58G	NM_001012417	NP_001012417	Q5J8X5	M4A13_HUMAN	membrane-spanning 4-domains, subfamily A, member	117	Helical; (Potential).					integral to membrane					0						TCTTCTACGGTTTGGAATTTT	0.353													G	60296882	T	G	60296882	2	3	12	1	0	0	0	0	0	0	0	1	9857	1712	60	5		5	MS4A13	11	60296882	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1317582	60296882	74709634	786	10794											
MS4A10	341116	broad.mit.edu	37	chr11	60558553	60558554	+	Frame_Shift_Ins	INS	-	-	G													aagtcttggtatccattctgINSgggggctgcctctgtgagta							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:60558552_60558553T>TG	uc001npz.1	+	2	385_386	c.289_290T>TG	c.(289-291)tggfs	p.W97fs		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 10 (MS4A10), mRNA.	97						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						GTATCCATTCTGGGGGGCTGCC	0.584													G	60558554	-	G	60558553	7	5	12	1	0	1	1	0	0	0	0	0	9855	1357	47	0	296	0	MS4A10	11	60558553	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	261671	60558553	74447963	787	10795											
SLC22A11	55867	broad.mit.edu	37	chr11	64323478	64323478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcagctctgttcatggcgTtctcgaagctcttggagcaa	12	10	4	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:64323478T>C	uc001oai.2	+	1	381	c.7T>C	c.(7-9)TTC>CTC	p.F3L	SLC22A11_uc001oah.1_Missense_Mutation_p.F3L|SLC22A11_uc001oaj.2_Missense_Mutation_p.F3L|SLC22A11_uc009ypq.2_Missense_Mutation_p.F3L	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	3	Cytoplasmic (Potential).				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)	GTTCATGGCGTTCTCGAAGCT	0.592											OREG0004031	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C	64323478	T	C	64323478	3	2	12	1	0	0	0	0	1	0	0	0	14442	1725	60	3	9	3	SLC22A11	11	64323478	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	3764925	64323478	70683038	788	10796											
SCYL1	57410	broad.mit.edu	37	chr11	65298235	65298235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcggcaatgctggggccGttgtcctcacgcccctcttc	11	15	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:65298235G>A	uc001oea.1	+	7	1062	c.985G>A	c.(985-987)GTT>ATT	p.V329I	SCYL1_uc009yqk.2_Missense_Mutation_p.V329I|SCYL1_uc001oeb.1_Missense_Mutation_p.V329I|SCYL1_uc001oec.1_Missense_Mutation_p.V329I|SCYL1_uc001oed.1_Missense_Mutation_p.V186I|SCYL1_uc001oee.1_5'UTR	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A	329					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			skin(1)	1						TGCTGGGGCCGTTGTCCTCAC	0.622													A	65298235	G	A	65298235	3	1	12	1	0	0	0	0	1	0	0	0	13947	1145	40	1	1011	1	SCYL1	11	65298235	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	974757	65298235	69708281	789	10797											
SNX32	254122	broad.mit.edu	37	chr11	65618601	65618601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatccgagatgcctgcctgCgggccgaccgcgtcatgcgc	14	15	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:65618601C>T	uc001ofr.2	+	7	806	c.679C>T	c.(679-681)CGG>TGG	p.R227W		NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	sorting nexin 6B	227					cell communication|protein transport		phosphatidylinositol binding				0				READ - Rectum adenocarcinoma(159;0.171)		TGCCTGCCTGCGGGCCGACCG	0.632													T	65618601	C	T	65618601	3	4	12	1	0	0	0	0	1	0	0	0	14902	759	27	1	705	1	SNX32	11	65618601	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	320366	65618601	69387915	790	10798											
RAB1B	81876	broad.mit.edu	37	chr11	66039888	66039889	+	Frame_Shift_Ins	INS	-	-	G													atcacttccagctactaccgINSgggggctcatggcatcatcg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:66039887_66039888C>CG	uc001ohf.3	+	3	330_331	c.235_236C>CG	c.(235-237)cggfs	p.R79fs	AK125412_uc001ohg.1_Non-coding_Transcript	NM_030981	NP_112243	Q9H0U4	RAB1B_HUMAN	Homo sapiens RAB1B, member RAS oncogene family (RAB1B), mRNA.	79	Switch 2 region; required for interaction with REP1/CHM.				protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CAGCTACTACCGGGGGGCTCAT	0.579													G	66039889	-	G	66039888	7	5	12	1	0	1	1	0	0	0	0	0	12906	1116	39	0	250	0	RAB1B	11	66039888	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	421287	66039888	68966628	791	10799											
CPT1A	1374	broad.mit.edu	37	chr11	68542897	68542897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggctgtcaatggacatgaCgtactgtcaaaaatagaaca	10	7	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:68542897C>T	uc001oog.3	-	13	1632	c.1462G>A	c.(1462-1464)GTC>ATC	p.V488I	CPT1A_uc001oof.3_Missense_Mutation_p.V488I|CPT1A_uc009ysj.2_Intron	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	488	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ATGGACATGACGTACTGTCAA	0.453													T	68542897	C	T	68542897	3	4	12	1	0	0	0	0	1	0	0	0	3831	536	19	1	927	1	CPT1A	11	68542897	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2503009	68542897	66463619	792	10800											
ANO1	55107	broad.mit.edu	37	chr11	70013393	70013394	+	Frame_Shift_Ins	INS	-	-	C													tgaagctgaagcagcagagcINSccccctgaccacgaggagtg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:70013392_70013393G>GC	uc001opj.3	+	20	2401_2402	c.2096_2097G>GC	c.(2095-2097)agcfs	p.S699fs	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc010rqk.2_Frame_Shift_Ins_p.S408fs|ANO1_uc010rql.1_5'Flank	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	699					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AAGCAGCAGAGCCCCCCTGACC	0.545													C	70013394	-	C	70013393	7	5	12	1	0	1	1	0	0	0	0	0	695	738	26	0	2179	0	ANO1	11	70013393	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	1470496	70013393	64993123	793	10801											
ANO1	55107	broad.mit.edu	37	chr11	70017068	70017068	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttgcgctgctgaacaacaTcatcgagatccgcctggacg	11	12	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:70017068T>G	uc001opj.2	+	22	2578	c.2273T>G	c.(2272-2274)ATC>AGC	p.I758S	ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.I467S|ANO1_uc010rql.1_5'UTR	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	758	Cytoplasmic (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						CTGAACAACATCATCGAGATC	0.587													G	70017068	T	G	70017068	3	3	12	1	0	0	0	0	1	0	0	0	695	1435	50	5	2359	5	ANO1	11	70017068	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	3675	70017068	64989448	794	10802											
INPPL1	3636	broad.mit.edu	37	chr11	71948484	71948484	+	Frame_Shift_Del	DEL	C	C	-													cggactcagccatcttcctgCcccccagcctggatccttta							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:71948483_71948483GC>G	uc001osf.3	+	25	3342	c.3195_3195GC>G	c.(3193-3195)ctgfs	p.L1065fs	INPPL1_uc001osg.3_Frame_Shift_Del_p.L823fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	1065	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCATCTTCCTGCCCCCCAGCC	0.662													-	71948484	C	-	71948484	7	5	12	1	0	1	0	1	0	0	0	0	7761	739	26	0	3298	0	INPPL1	11	71948484	Frame_Shift_Del	DEL	C	TCGA-BR-4257-01A-01D-1126-08	1931416	71948484	63058032	795	10803											
UVRAG	7405	broad.mit.edu	37	chr11	75776823	75776823	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctatcttctgaacaaaaaTatagcacaggtaagtctctg	7	8	4	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:75776823T>G	uc001oxc.2	+	13	1537	c.1296T>G	c.(1294-1296)AAT>AAG	p.N432K	UVRAG_uc010rrw.1_Missense_Mutation_p.N331K|UVRAG_uc001oxd.2_Missense_Mutation_p.N60K|UVRAG_uc010rrx.1_Missense_Mutation_p.N60K	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	432					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			skin(4)|lung(2)	6						TGAACAAAAATATAGCACAGG	0.383													G	75776823	T	G	75776823	3	3	12	1	0	0	0	0	1	0	0	0	17105	1403	49	5	1346	5	UVRAG	11	75776823	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	3828339	75776823	59229693	796	10804											
INTS4	92105	broad.mit.edu	37	chr11	77633436	77633436	+	Frame_Shift_Del	DEL	A	A	-													atgtctggttcagctgtgtcAaaaaatgggtgggtgctcag							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:77633436delA	uc001oys.2	-	13	1624	c.1596delT	c.(1594-1596)TTTfs	p.F532fs	INTS4_uc001oyt.2_RNA	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	532					snRNA processing	integrator complex	protein binding			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CAGCTGTGTCAAAAAATGGGT	0.507													-	77633436	A	-	77633436	7	5	12	1	0	1	0	1	0	0	0	0	7780	127	5	0	1339	0	INTS4	11	77633436	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	1856613	77633436	57373080	797	10805											
CCDC90B	60492	broad.mit.edu	37	chr11	82984691	82984691	+	Frame_Shift_Del	DEL	T	T	-													tttttacatattactttaccTtttttgtaaattctgtagtt							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:82984691delT	uc001pae.2	-	7	955	c.593delA	c.(592-594)AAGfs	p.K198fs	CCDC90B_uc001pac.2_Frame_Shift_Del_p.K97fs|CCDC90B_uc001pad.2_Frame_Shift_Del_p.K97fs|CCDC90B_uc001paf.2_Frame_Shift_Del_p.K189fs	NM_021825	NP_068597	Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B precursor	198						integral to membrane|mitochondrion|mitochondrion					0		Acute lymphoblastic leukemia(157;0.103)				TTACTTTACCTTTTTTGTAAA	0.274													-	82984691	T	-	82984691	7	5	12	1	0	1	0	1	0	0	0	0	2869	1623	56	0	183	0	CCDC90B	11	82984691	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	5351255	82984691	52021825	798	10806											
FAT3	120114	broad.mit.edu	37	chr11	92088561	92088561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggaaggttcagtatagacGacgagagtggtaagtgtaat	14	3	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:92088561G>A	uc001pdj.3	+	1	3300	c.3283G>A	c.(3283-3285)GAC>AAC	p.D1095N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1095	Cadherin 10.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGTATAGACGACGAGAGTGG	0.453										TCGA Ovarian(4;0.039)			A	92088561	G	A	92088561	3	1	12	1	0	0	0	0	1	0	0	0	5691	1058	37	1	3285	1	FAT3	11	92088561	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	9103870	92088561	42917955	799	10807											
FAT3	120114	broad.mit.edu	37	chr11	92533874	92533874	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccgggaaaaccctctagaAggggatgttagtatttttgt	12	6	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:92533874A>G	uc001pdj.3	+	9	7712	c.7695A>G	c.(7693-7695)GAA>GAG	p.E2565E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2565	Cadherin 23.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACCCTCTAGAAGGGGATGTTA	0.478										TCGA Ovarian(4;0.039)			G	92533874	A	G	92533874	2	3	12	1	0	0	0	0	0	0	0	1	5691	69	3	3		3	FAT3	11	92533874	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	445313	92533874	42472642	800	10808											
PIWIL4	143689	broad.mit.edu	37	chr11	94340675	94340675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatatttgagctcagactGcccagtcccaagccaatgtg	8	11	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:94340675G>A	uc001pfa.2	+	14	1920	c.1709G>A	c.(1708-1710)TGC>TAC	p.C570Y	PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	570	Piwi.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			skin(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGCTCAGACTGCCCAGTCCCA	0.418													A	94340675	G	A	94340675	3	1	12	1	0	0	0	0	1	0	0	0	11960	1319	46	2	1763	2	PIWIL4	11	94340675	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1806801	94340675	40665841	801	10809											
CWC15	51503	broad.mit.edu	37	chr11	94696586	94696586	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccatgaactttttgtgaaaTtcagatcgcagtgtgtcatt	8	7	2	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:94696586T>A	uc001pfd.3	-	8	777	c.654A>T	c.(652-654)GAA>GAT	p.E218D		NM_016403	NP_057487	Q9P013	CWC15_HUMAN	CWC15 homolog	218					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding|RNA binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTTGTGAAATTCAGATCGCA	0.333													A	94696586	T	A	94696586	3	1	12	1	0	0	0	0	1	0	0	0	4067	1490	52	5	39	5	CWC15	11	94696586	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	355911	94696586	40309930	802	10810											
KDM4D	55693	broad.mit.edu	37	chr11	94731303	94731303	+	Frame_Shift_Del	DEL	A	A	-													ctcgcctacagttctcaaggAaaatgggattcccttcaatc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:94731303delA	uc001pfe.2	+	3	1599	c.767delA	c.(766-768)GAAfs	p.E256fs		NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	jumonji domain containing 2D	256	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GTTCTCAAGGAAAATGGGATT	0.567													-	94731303	A	-	94731303	7	5	12	1	0	1	0	1	0	0	0	0	8131	246	9	0	769	0	KDM4D	11	94731303	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	34717	94731303	40275213	803	10811											
BIRC2	329	broad.mit.edu	37	chr11	102220626	102220626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagacttttcccaggtccctCgtatcaaaacattaagagta	6	10	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:102220626C>T	uc001pgy.2	+	2	1440	c.41C>T	c.(40-42)TCG>TTG	p.S14L	BIRC2_uc010ruq.1_Intron|BIRC2_uc010rur.1_Missense_Mutation_p.S14L	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	baculoviral IAP repeat-containing protein 2	14					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		CCAGGTCCCTCGTATCAAAAC	0.378													T	102220626	C	T	102220626	3	4	12	1	0	0	0	0	1	0	0	0	1435	893	31	1	43	1	BIRC2	11	102220626	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	7489323	102220626	32785890	804	10812											
MMP12	4321	broad.mit.edu	37	chr11	102742328	102742328	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgttttgcccacctccTgaatgtgtagtccagaattc	8	10	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:102742328T>C	uc001phk.2	-	4	666	c.621A>G	c.(619-621)TCA>TCG	p.S207S		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	207					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GCCCACCTCCTGAATGTGTAG	0.373													C	102742328	T	C	102742328	2	2	12	1	0	0	0	0	0	0	0	1	9651	1567	55	3		3	MMP12	11	102742328	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	521702	102742328	32264188	805	10813											
DDI1	414301	broad.mit.edu	37	chr11	103907911	103907911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcagcagcgcacacccGctgcccagcggtcacagggc	13	17	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:103907911G>A	uc001phr.2	+	1	604	c.361G>A	c.(361-363)GCT>ACT	p.A121T	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	121					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GCGCACACCCGCTGCCCAGCG	0.677													A	103907911	G	A	103907911	3	1	12	1	0	0	0	0	1	0	0	0	4328	1087	38	1	363	1	DDI1	11	103907911	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1165583	103907911	31098605	806	10814											
KBTBD3	143879	broad.mit.edu	37	chr11	105924490	105924490	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttatagcaaaatgtatatTgattttctccattttcctca	4	7	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:105924490T>C	uc001pja.2	-	4	1566	c.926A>G	c.(925-927)CAA>CGA	p.Q309R	KBTBD3_uc001pjb.2_Missense_Mutation_p.Q309R|KBTBD3_uc009yxm.2_Missense_Mutation_p.Q230R	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	BTB and kelch domain containing 3	305	Kelch 1.									ovary(1)|central_nervous_system(1)	2		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		AAATGTATATTGATTTTCTCC	0.393													C	105924490	T	C	105924490	3	2	12	1	0	0	0	0	1	0	0	0	7994	1812	63	3	916	3	KBTBD3	11	105924490	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	2016579	105924490	29082026	807	10815											
CUL5	8065	broad.mit.edu	37	chr11	107925673	107925673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagacgagaatgtaactcCgttgaagcagtaagtaattt	9	6	0	3	rs147410964	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:107925673C>T	uc001pjv.2	+	7	1438	c.771C>T	c.(769-771)TCC>TCT	p.S257S	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	257					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AATGTAACTCCGTTGAAGCAG	0.299													T	107925673	C	T	107925673	2	4	12	1	0	0	0	0	0	0	0	1	4059	639	23	1		1	CUL5	11	107925673	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2001183	107925673	27080843	808	10816											
ATM	472	broad.mit.edu	37	chr11	108117798	108117798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaagtattcttcaggatttCgtaatattgccgtcaaagaa	8	6	3	1	rs138398778		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:108117798C>T	uc001pkb.1	+	8	1394	c.1009C>T	c.(1009-1011)CGT>TGT	p.R337C	ATM_uc009yxr.1_Missense_Mutation_p.R337C	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.R337C(2)|p.R337S(2)|p.R337H(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTCAGGATTTCGTAATATTGC	0.323			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			T	108117798	C	T	108117798	3	4	12	1	0	0	0	0	1	0	0	0	1109	884	31	1	1035	1	ATM	11	108117798	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	192125	108117798	26888718	809	10817											
LAYN	143903	broad.mit.edu	37	chr11	111414815	111414815	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagaaactgatagaaaagTtcattgaaaacctcttgcca	6	8	2	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:111414815T>C	uc001plr.1	+	3	613	c.277T>C	c.(277-279)TTC>CTC	p.F93L	LAYN_uc001plp.1_Missense_Mutation_p.F85L|LAYN_uc001plq.1_Missense_Mutation_p.F93L|LAYN_uc001pls.1_Missense_Mutation_p.F85L|LAYN_uc010rwg.1_5'UTR|LAYN_uc010rwh.1_5'UTR	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	layilin	93	C-type lectin.|Extracellular (Potential).					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding				0		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		GATAGAAAAGTTCATTGAAAA	0.488													C	111414815	T	C	111414815	3	2	12	1	0	0	0	0	1	0	0	0	8649	1725	60	3	259	3	LAYN	11	111414815	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	3297017	111414815	23591701	810	10818											
CLDN25	644672	broad.mit.edu	37	chr11	113650551	113650551	+	Frame_Shift_Del	DEL	G	G	-													tccgtgcaaaagtccagctcGgggggctacttctctccctc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:113650551delG	uc009yyw.1	+	1	34	c.34delG	c.(34-36)GGGfs	p.G12fs		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	claudin 25	12	Helical; (Potential).					integral to membrane|tight junction	structural molecule activity				0						AGTCCAGCTCGGGGGGCTACT	0.552													-	113650551	G	-	113650551	7	5	12	1	0	1	0	1	0	0	0	0	3485	1116	39	0	36	0	CLDN25	11	113650551	Frame_Shift_Del	DEL	G	TCGA-BR-4257-01A-01D-1126-08	2235736	113650551	21355965	811	10819											
HTR3B	9177	broad.mit.edu	37	chr11	113802574	113802574	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccatctgggcccccgataTcatcatcaatgagttgtaag	9	11	4	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:113802574T>C	uc001pok.2	+	4	420	c.353T>C	c.(352-354)ATC>ACC	p.I118T	HTR3B_uc001pol.2_Missense_Mutation_p.I107T	NM_006028	NP_006019	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B	118	Extracellular (Potential).				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		GCCCCCGATATCATCATCAAT	0.453													C	113802574	T	C	113802574	3	2	12	1	0	0	0	0	1	0	0	0	7445	1435	50	3	367	3	HTR3B	11	113802574	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	152023	113802574	21203942	812	10820											
FAM55D	54827	broad.mit.edu	37	chr11	114453246	114453246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagatcaccctgtcataGccttggttccttgcactcca	8	13	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:114453246G>A	uc001ppc.2	-	3	775	c.594C>T	c.(592-594)GGC>GGT	p.G198G	FAM55D_uc001ppd.2_Intron	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	198						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		CCCTGTCATAGCCTTGGTTCC	0.527													A	114453246	G	A	114453246	2	1	12	1	0	0	0	0	0	0	0	1	5587	958	34	2		2	FAM55D	11	114453246	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	650672	114453246	20553270	813	10821											
SIK3	23387	broad.mit.edu	37	chr11	116744643	116744643	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactcaagttgcccggttggTtgcaagttttgcataggcaa	11	8	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:116744643T>C	uc001ppy.2	-	12	1419	c.1383A>G	c.(1381-1383)CAA>CAG	p.Q461Q	SIK3_uc001ppz.2_Silent_p.Q360Q|SIK3_uc001pqa.2_Silent_p.Q413Q	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	461						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						GCCCGGTTGGTTGCAAGTTTT	0.517													C	116744643	T	C	116744643	2	2	12	1	0	0	0	0	0	0	0	1	14319	1722	60	3		3	SIK3	11	116744643	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	2291397	116744643	18261873	814	10822											
TTC36	143941	broad.mit.edu	37	chr11	118399499	118399499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccggcgactccagggagaCgtggcaggtaaggggagatg	19	9	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:118399499C>T	uc001ptg.1	+	2	300	c.300C>T	c.(298-300)GAC>GAT	p.D100D	TTC36_uc010ryb.1_RNA|TTC36_uc010ryc.1_Silent_p.D41D|TMEM25_uc010ryd.1_5'Flank|TMEM25_uc001ptk.3_5'Flank|TMEM25_uc010rye.1_5'Flank|TMEM25_uc001pth.2_5'Flank|TMEM25_uc009zad.2_5'Flank|TMEM25_uc001pti.2_5'Flank|TMEM25_uc010ryf.1_5'Flank|TMEM25_uc001ptl.2_5'Flank|TMEM25_uc001ptm.2_5'Flank|TMEM25_uc001ptn.2_5'Flank	NM_001080441	NP_001073910	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	100	TPR 2.						binding				0						TCCAGGGAGACGTGGCAGGTA	0.537													T	118399499	C	T	118399499	2	4	12	1	0	0	0	0	0	0	0	1	16701	535	19	1		1	TTC36	11	118399499	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1654856	118399499	16607017	815	10823											
TREH	11181	broad.mit.edu	37	chr11	118533631	118533631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgatgcagctgccctgCccaggcacgcagtttggcat	13	13	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:118533631C>T	uc001pty.1	-	4	427	c.382G>A	c.(382-384)GCA>ACA	p.A128T	TREH_uc009zaj.1_Missense_Mutation_p.A128T|TREH_uc001ptz.1_Silent_p.G7G|TREH_uc009zak.2_Missense_Mutation_p.A128T	NM_007180	NP_009111	O43280	TREA_HUMAN	trehalase precursor	128					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			pancreas(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		AGCTGCCCTGCCCAGGCACGC	0.577													T	118533631	C	T	118533631	3	4	12	1	0	0	0	0	1	0	0	0	16466	739	26	2	1416	2	TREH	11	118533631	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	134132	118533631	16472885	816	10824											
DDX6	1656	broad.mit.edu	37	chr11	118629614	118629615	+	Splice_Site	INS	-	-	G													ttctgcaaatgggaattctgINSgggggggagcgggaaaaaga							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:118629613_118629614T>TG	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL								G	118629615	-	G	118629614	8	5	12	1	0	1	1	0	0	0	1	0	4377	1363	47	0		0	DDX6	11	118629614	Splice_Site	INS	-	TCGA-BR-4257-01A-01D-1126-08	95983	118629614	16376902	817	10825											
C2CD2L	9854	broad.mit.edu	37	chr11	118982005	118982005	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagccacccatgatgccccaGgctcagccagccatccccag	8	19	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:118982005G>T	uc001pvo.2	+	6	1190	c.831G>T	c.(829-831)CAG>CAT	p.Q277H	DPAGT1_uc010ryz.1_5'Flank|C2CD2L_uc001pvn.2_Missense_Mutation_p.Q277H	NM_014807	NP_055622	O14523	C2C2L_HUMAN	transmembrane protein 24	277						integral to membrane					0						TGATGCCCCAGGCTCAGCCAG	0.547													T	118982005	G	T	118982005	3	4	12	1	0	0	0	0	1	0	0	0	2153	991	35	5	853	5	C2CD2L	11	118982005	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	352391	118982005	16024511	818	10826											
OAF	220323	broad.mit.edu	37	chr11	120096472	120096472	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgcagcacaatgagatcAtccccagtgaggccatggcc	11	13	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:120096472A>G	uc001pxb.2	+	2	575	c.334A>G	c.(334-336)ATC>GTC	p.I112V		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	OAF homolog precursor	112											0		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		CAATGAGATCATCCCCAGTGA	0.647													G	120096472	A	G	120096472	3	3	12	1	0	0	0	0	1	0	0	0	10798	217	8	3	340	3	OAF	11	120096472	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1114467	120096472	14910044	819	10827											
GRIK4	2900	broad.mit.edu	37	chr11	120690602	120690602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcttcaactgcaccaccGcctgcctcatctgtgccaaa	5	17	4	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:120690602G>A	uc001pxn.2	+	6	771	c.484G>A	c.(484-486)GCC>ACC	p.A162T	GRIK4_uc009zav.1_Missense_Mutation_p.A162T|GRIK4_uc009zaw.1_Missense_Mutation_p.A162T|GRIK4_uc009zax.1_Missense_Mutation_p.A162T	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	162	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CTGCACCACCGCCTGCCTCAT	0.547													A	120690602	G	A	120690602	3	1	12	1	0	0	0	0	1	0	0	0	6776	1087	38	1	498	1	GRIK4	11	120690602	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	594130	120690602	14315914	820	10828											
TECTA	7007	broad.mit.edu	37	chr11	121038788	121038788	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcacgcatatcatgtataAaaacacactctggatcgaaa	7	9	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:121038788A>G	uc010rzo.1	+	18	5612	c.5612A>G	c.(5611-5613)AAA>AGA	p.K1871R		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1871	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATCATGTATAAAAACACACTC	0.448													G	121038788	A	G	121038788	3	3	12	1	0	0	0	0	1	0	0	0	15744	14	1	3	5682	3	TECTA	11	121038788	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	348186	121038788	13967728	821	10829											
BLID	414899	broad.mit.edu	37	chr11	121986495	121986495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccaagagcgcctccagtgGcaggcgtgcttttgcctctg	12	14	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:121986495G>A	uc001pyf.2	-	1	429	c.136C>T	c.(136-138)CCA>TCA	p.P46S	LOC399959_uc009zba.2_Intron	NM_001001786	NP_001001786	Q8IZY5	BLID_HUMAN	BRCC2 protein	46					apoptosis	mitochondrion					0		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)		GCCTCCAGTGGCAGGCGTGCT	0.483											OREG0021435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	121986495	G	A	121986495	3	1	12	1	0	0	0	0	1	0	0	0	1443	1203	42	2	194	2	BLID	11	121986495	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	947707	121986495	13020021	822	10830											
UBASH3B	84959	broad.mit.edu	37	chr11	122659945	122659945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggcacgtccttaaccacCggctgctctggactcctgcc	9	16	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:122659945C>T	uc001pyi.3	+	6	1269	c.909C>T	c.(907-909)ACC>ACT	p.T303T		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing,	303	SH3.					cytoplasm|nucleus	protein tyrosine phosphatase activity			central_nervous_system(1)	1		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CCTTAACCACCGGCTGCTCTG	0.522													T	122659945	C	T	122659945	2	4	12	1	0	0	0	0	0	0	0	1	16837	639	23	1		1	UBASH3B	11	122659945	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	673450	122659945	12346571	823	10831											
HSPA8	3312	broad.mit.edu	37	chr11	122928610	122928610	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttctgttgatgttcaaaTtcttccttctcagcagtctg	6	10	6	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:122928610T>C	uc001pyo.2	-	9	1851	c.1773A>G	c.(1771-1773)GAA>GAG	p.E591E	HSPA8_uc009zbc.2_Silent_p.E355E|HSPA8_uc001pyp.2_Intron|HSPA8_uc010rzu.1_Silent_p.E514E	NM_006597	NP_006588	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8 isoform 1	591					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			central_nervous_system(7)|lung(1)	8		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GATGTTCAAATTCTTCCTTCT	0.438													C	122928610	T	C	122928610	2	2	12	1	0	0	0	0	0	0	0	1	7416	1490	52	3		3	HSPA8	11	122928610	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	268665	122928610	12077906	824	10832											
OR10G8	219869	broad.mit.edu	37	chr11	123900482	123900482	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgatcagggtggattcTcacctccacaccaccatgta	9	13	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:123900482T>A	uc001pzp.1	+	1	153	c.153T>A	c.(151-153)TCT>TCA	p.S51S		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	51	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGGTGGATTCTCACCTCCACA	0.552													A	123900482	T	A	123900482	2	1	12	1	0	0	0	0	0	0	0	1	10903	1538	54	5		5	OR10G8	11	123900482	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	971872	123900482	11106034	825	10833											
OR8B12	219858	broad.mit.edu	37	chr11	124413190	124413190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttacagatggccacgtagcGgtcatacgccatcgctgaca	11	12	1	2	rs148702196		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:124413190G>A	uc010sam.1	-	1	361	c.361C>T	c.(361-363)CGC>TGC	p.R121C		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	121	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GCCACGTAGCGGTCATACGCC	0.502													A	124413190	G	A	124413190	3	1	12	1	0	0	0	0	1	0	0	0	11226	1116	39	1	573	1	OR8B12	11	124413190	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	512708	124413190	10593326	826	10834											
NFRKB	4798	broad.mit.edu	37	chr11	129754692	129754692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccacccgcaggggcacCgcaggactaggagaacgtgc	15	14	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:129754692C>T	uc001qfi.2	-	7	891	c.690G>A	c.(688-690)GCG>GCA	p.A230A	NFRKB_uc001qfg.2_Silent_p.A255A|NFRKB_uc001qfh.2_Silent_p.A253A|NFRKB_uc010sbw.1_Silent_p.A242A	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	230					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GCAGGGGCACCGCAGGACTAG	0.527													T	129754692	C	T	129754692	2	4	12	1	0	0	0	0	0	0	0	1	10384	639	23	1		1	NFRKB	11	129754692	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	5341502	129754692	5251824	827	10835											
THYN1	29087	broad.mit.edu	37	chr11	134118753	134118753	+	Frame_Shift_Del	DEL	T	T	-													ggcgagtgaagagaaccataTtttttaaggggccaccagta							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:134118752_134118752AT>A	uc001qhf.3	-	6	684	c.582_582AT>T	c.(580-582)aatfs	p.N194fs	THYN1_uc001qhg.3_Frame_Shift_Del_p.N194fs|THYN1_uc001qhh.3_Frame_Shift_Del_p.N194fs|THYN1_uc001qhi.3_Intron|THYN1_uc001qhj.3_Intron	NM_001037305	NP_954995	Q9P016	THYN1_HUMAN	Homo sapiens thymocyte nuclear protein 1 (THYN1), transcript variant 5, mRNA.	194						nucleus				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		AGAGAACCATATTTTTTAAGG	0.463													-	134118753	T	-	134118753	7	5	12	1	0	1	0	1	0	0	0	0	15883	1493	52	0	104	0	THYN1	11	134118753	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	4364061	134118753	887763	828	10836											
CHD4	1108	broad.mit.edu	37	chr12	6687040	6687040	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctcattgaggatggcatAgcgtgggtcattctggatgt	15	6	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:6687040A>G	uc001qpo.2	-	37	5436	c.5272T>C	c.(5272-5274)TAT>CAT	p.Y1758H	CHD4_uc001qpn.2_Missense_Mutation_p.Y1751H|CHD4_uc001qpp.2_Missense_Mutation_p.Y1783H|uc001qpq.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1758	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						AGGATGGCATAGCGTGGGTCA	0.433													G	6687040	A	G	6687040	3	3	12	1	0	0	0	0	1	0	0	0	3327	420	15	3	482	3	CHD4	12	6687040	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08		6687040	127164855	829	10837											
ACRBP	84519	broad.mit.edu	37	chr12	6749557	6749557	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaagcaaggggctgacaaaGggagtcttgtgggaggtgtc	18	6	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:6749557G>T	uc001qpu.1	-	7	1257	c.1209C>A	c.(1207-1209)CCC>CCA	p.P403P	LPAR5_uc010sff.1_5'Flank|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Silent_p.P370P	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	proacrosin binding protein sp32 precursor	403						acrosomal vesicle|extracellular region				central_nervous_system(1)	1						GGCTGACAAAGGGAGTCTTGT	0.617													T	6749557	G	T	6749557	2	4	12	1	0	0	0	0	0	0	0	1	170	987	35	5		5	ACRBP	12	6749557	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	62517	6749557	127102338	830	10838											
USP5	8078	broad.mit.edu	37	chr12	6964649	6964649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagacatttcaataagaccGgccagcgagtctacttgcac	9	11	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:6964649G>A	uc001qri.3	+	2	255	c.196G>A	c.(196-198)GGC>AGC	p.G66S	USP5_uc001qrh.3_Missense_Mutation_p.G66S	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	66					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4						CAATAAGACCGGCCAGCGAGT	0.567													A	6964649	G	A	6964649	3	1	12	1	0	0	0	0	1	0	0	0	17078	1116	39	1	202	1	USP5	12	6964649	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	215092	6964649	126887246	831	10839											
PHB2	11331	broad.mit.edu	37	chr12	7077645	7077645	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgagcacctcgttgacaaTggacggcaacactcgttcct	9	13	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:7077645T>C	uc001qsd.2	-	4	616	c.406A>G	c.(406-408)ATT>GTT	p.I136V	PHB2_uc010sft.1_Missense_Mutation_p.I136V|PHB2_uc010sfu.1_Missense_Mutation_p.I136V|PHB2_uc001qse.1_5'Flank|PHB2_uc001qsf.1_5'Flank|PHB2_uc009zfn.1_5'Flank|SCARNA12_uc001qsg.2_5'Flank	NM_001144831	NP_001138303	Q99623	PHB2_HUMAN	prohibitin 2 isoform 1	136					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						TCGTTGACAATGGACGGCAAC	0.577													C	7077645	T	C	7077645	3	2	12	1	0	0	0	0	1	0	0	0	11815	1464	51	3	517	3	PHB2	12	7077645	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	112996	7077645	126774250	832	10840											
CLEC4A	50856	broad.mit.edu	37	chr12	8281918	8281918	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actacaaaagagctggttcaTacaacattggagtgtgtgaa	10	6	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:8281918T>C	uc001qtz.1	+	3	505	c.258T>C	c.(256-258)CAT>CAC	p.H86H	CLEC4A_uc009zga.1_Silent_p.H47H|CLEC4A_uc001qub.1_Intron|CLEC4A_uc001quc.1_Intron|CLEC4A_uc009zgb.1_Intron	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A isoform	86	Extracellular (Potential).				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity				0				Kidney(36;0.0915)		AGCTGGTTCATACAACATTGG	0.333													C	8281918	T	C	8281918	2	2	12	1	0	0	0	0	0	0	0	1	3512	1403	49	3		3	CLEC4A	12	8281918	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1204273	8281918	125569977	833	10841											
PLBD1	79887	broad.mit.edu	37	chr12	14664529	14664529	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggactctttgccaggacaGgagagtctcgggtattacct	12	10	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:14664529G>A	uc001rcc.1	-	7	1122	c.961C>T	c.(961-963)CTG>TTG	p.L321L		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	321					lipid catabolic process	extracellular region	hydrolase activity				0						TGCCAGGACAGGAGAGTCTCG	0.448													A	14664529	G	A	14664529	2	1	12	1	0	0	0	0	0	0	0	1	12025	991	35	4		4	PLBD1	12	14664529	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	6382611	14664529	119187366	834	10842											
ART4	420	broad.mit.edu	37	chr12	14993873	14993873	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tataaaacaaaatagccacaGcgtgtgtggtagtcatgttc	9	7	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:14993873G>T	uc001rcl.1	-	2	725	c.359C>A	c.(358-360)GCT>GAT	p.A120D	ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Missense_Mutation_p.A120D	NM_021071	NP_066549	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 precursor	120					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity				0						AATAGCCACAGCGTGTGTGGT	0.433													T	14993873	G	T	14993873	3	4	12	1	0	0	0	0	1	0	0	0	999	971	34	5	593	5	ART4	12	14993873	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	329344	14993873	118858022	835	10843											
PLEKHA5	54477	broad.mit.edu	37	chr12	19427545	19427546	+	Frame_Shift_Ins	INS	-	-	A													ccagagatccaaaacaatcaINSaaaaaacaaggaaatgagca							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:19427544_19427545C>CA	uc001reb.3	+	9	1030_1031	c.922_923C>CA	c.(922-924)caafs	p.Q308fs	PLEKHA5_uc010sie.2_Frame_Shift_Ins_p.Q314fs|PLEKHA5_uc001rea.3_Frame_Shift_Ins_p.Q308fs|PLEKHA5_uc009zin.3_Frame_Shift_Ins_p.Q66fs|PLEKHA5_uc010sig.2_Frame_Shift_Ins_p.Q200fs|PLEKHA5_uc010sih.1_Frame_Shift_Ins_p.Q200fs|PLEKHA5_uc021qvy.1_Frame_Shift_Ins_p.Q200fs|PLEKHA5_uc001rec.1_5'UTR	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	308							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CCAAAACAATCAAAAAAACAAG	0.327													A	19427546	-	A	19427545	7	5	12	1	0	1	1	0	0	0	0	0	12059	130	5	0	961	0	PLEKHA5	12	19427545	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	4433672	19427545	114424350	836	10844											
CMAS	55907	broad.mit.edu	37	chr12	22208418	22208418	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaggaaatattcaagctActtctccatgtttacatcct	5	9	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:22208418A>G	uc001rfm.2	+	3	512	c.433A>G	c.(433-435)ACT>GCT	p.T145A	CMAS_uc001rfn.2_RNA	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	cytidine monophospho-N-acetylneuraminic acid	145					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			ovary(1)|pancreas(1)|skin(1)	3						TATTCAAGCTACTTCTCCATG	0.328													G	22208418	A	G	22208418	3	3	12	1	0	0	0	0	1	0	0	0	3575	391	14	3	443	3	CMAS	12	22208418	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2780873	22208418	111643477	837	10845											
KRAS	3845	broad.mit.edu	37	chr12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggcactcttgcctacgCcaccagctccaactaccaca	5	18	2	0	rs112445441		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:25398281C>T	uc001rgp.1	-	2	219	c.38G>A	c.(37-39)GGC>GAC	p.G13D	KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	13	GTP.		G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).|G -> D (in a breast carcinoma cell line and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13D(2647)|p.G13C(182)|p.G13S(58)|p.G13R(41)|p.G13V(27)|p.G13A(24)|p.G13G(11)|p.G13E(4)|p.G12_G13insG(4)|p.G13N(3)|p.G13I(1)|p.G13_V14>DI(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(NCIH647_LUNG)|G13D(MDAMB231_BREAST)|G13D(NCIH747_LARGE_INTESTINE)|G13D(T84_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT15_LARGE_INTESTINE)|G13D(HCT116_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25398281	C	T	25398281	3	4	12	1	0	0	0	0	1	0	0	0	8438	739	26	2	668	2	KRAS	12	25398281	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3189863	25398281	108453614	838	10846											
ITPR2	3709	broad.mit.edu	37	chr12	26640046	26640047	+	Frame_Shift_Ins	INS	-	-	T													aattcattgtcatcgtccctINSttttttgttacctaaatcta							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:26640045_26640046C>CT	uc001rhg.3	-	39	5926_5927	c.5509_5510G>AG	c.(5509-5511)aggfs	p.R1837fs	ITPR2_uc009zjg.1_5'UTR	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1837					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GTCATCGTCCCTTTTTTTGTTA	0.361													T	26640047	-	T	26640046	7	5	12	1	0	1	1	0	0	0	0	0	7921	1608	56	0	2668	0	ITPR2	12	26640046	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	1241765	26640046	107211849	839	10847											
TWF1	5756	broad.mit.edu	37	chr12	44191543	44191543	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttgagctgtctattattcaAtttttccaaagcctgaaagg	8	7	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:44191543A>T	uc001rob.2	-	7	728	c.700T>A	c.(700-702)TTG>ATG	p.L234M	TWF1_uc001rnz.2_Missense_Mutation_p.L95M|TWF1_uc001roa.2_Missense_Mutation_p.L227M|TWF1_uc001roc.2_Missense_Mutation_p.L95M	NM_002822	NP_002813	Q12792	TWF1_HUMAN	twinfilin 1	193	ADF-H 2.					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			stomach(1)	1	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		CTATTATTCAATTTTTCCAAA	0.383													T	44191543	A	T	44191543	3	4	12	1	0	0	0	0	1	0	0	0	16778	98	4	5	491	5	TWF1	12	44191543	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	17551497	44191543	89660352	840	10848											
NELL2	4753	broad.mit.edu	37	chr12	44915909	44915909	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcagcaaaaaagatcaacTgtgggattctcacagtcaca	10	9	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:44915909T>C	uc001rog.2	-	18	2644	c.2049A>G	c.(2047-2049)ACA>ACG	p.T683T	NELL2_uc001rof.3_Silent_p.T682T|NELL2_uc001roh.2_Silent_p.T683T|NELL2_uc009zkd.2_Silent_p.T635T|NELL2_uc010skz.1_Silent_p.T733T|NELL2_uc010sla.1_Silent_p.T706T	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	683	VWFC 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AAAGATCAACTGTGGGATTCT	0.433													C	44915909	T	C	44915909	2	2	12	1	0	0	0	0	0	0	0	1	10334	1567	55	3		3	NELL2	12	44915909	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	724366	44915909	88935986	841	10849											
MLL2	8085	broad.mit.edu	37	chr12	49434936	49434936	+	Frame_Shift_Del	DEL	G	G	-													ccagcatcgggggctgcgcaGgggcccccgtaggactagga							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:49434936delG	uc001rta.3	-	31	6617	c.6617delC	c.(6616-6618)CCTfs	p.P2206fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2206	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGGCTGCGCAGGGGCCCCCGT	0.701			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			-	49434936	G	-	49434936	7	5	12	1	0	1	0	1	0	0	0	0	9621	1000	35	0	10092	0	MLL2	12	49434936	Frame_Shift_Del	DEL	G	TCGA-BR-4257-01A-01D-1126-08	4519027	49434936	84416959	842	10850											
GPD1	2819	broad.mit.edu	37	chr12	50498517	50498517	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatacctgccagggcacAagttgcccccaaatgtggtg	10	12	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:50498517A>G	uc001rvz.2	+	2	235	c.202A>G	c.(202-204)AAG>GAG	p.K68E	GPD1_uc010smp.1_Missense_Mutation_p.K68E|GPD1_uc001rwa.2_Missense_Mutation_p.K68E	NM_005276	NP_005267	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	68					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity				0					NADH(DB00157)	GCCAGGGCACAAGTTGCCCCC	0.542													G	50498517	A	G	50498517	3	3	12	1	0	0	0	0	1	0	0	0	6604	131	5	3	208	3	GPD1	12	50498517	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1063581	50498517	83353378	843	10851											
SCN8A	6334	broad.mit.edu	37	chr12	52094954	52094954	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacacagttcctggcatgCtggaacctttactctgtggg	10	11	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:52094954C>T	uc001ryw.2	+	8	1133	c.955C>T	c.(955-957)CTG>TTG	p.L319L	SCN8A_uc010snl.1_Silent_p.L184L|SCN8A_uc001ryx.1_Silent_p.L184L|SCN8A_uc001ryz.1_Silent_p.L184L|SCN8A_uc001ryy.2_Silent_p.L184L	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	319	I.				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCCTGGCATGCTGGAACCTTT	0.393													T	52094954	C	T	52094954	2	4	12	1	0	0	0	0	0	0	0	1	13924	796	28	2		2	SCN8A	12	52094954	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1596437	52094954	81756941	844	10852											
GDF11	10220	broad.mit.edu	37	chr12	56143376	56143376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgagcactcaagcgagtccCgctgctgccgatatcccctc	9	17	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:56143376C>T	uc001shq.2	+	3	971	c.934C>T	c.(934-936)CGC>TGC	p.R312C	GDF11_uc010spv.1_Missense_Mutation_p.R312C	NM_005811	NP_005802	O95390	GDF11_HUMAN	growth differentiation factor 11 precursor	312					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity	p.R312H(1)		kidney(1)	1						AAGCGAGTCCCGCTGCTGCCG	0.582													T	56143376	C	T	56143376	3	4	12	1	0	0	0	0	1	0	0	0	6312	652	23	1	944	1	GDF11	12	56143376	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	4048422	56143376	77708519	845	10853											
DGKA	1606	broad.mit.edu	37	chr12	56347514	56347515	+	Frame_Shift_Ins	INS	-	-	C													gcccatgctcatgggcccacINSccccccgctccaccaatttc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:56347513_56347514A>AC	uc001sij.3	+	23	2433_2434	c.2169_2170A>AC	c.(2167-2172)ccacccfs	p.P723fs	DGKA_uc001sik.3_Frame_Shift_Ins_p.P723fs|DGKA_uc001sil.3_Frame_Shift_Ins_p.P723fs|DGKA_uc001sim.3_Frame_Shift_Ins_p.P723fs|DGKA_uc001sin.3_Frame_Shift_Ins_p.P723fs|DGKA_uc009zof.3_Frame_Shift_Ins_p.P369fs|DGKA_uc001sio.3_Frame_Shift_Ins_p.P465fs	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	723					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579													C	56347515	-	C	56347514	7	5	12	1	0	1	1	0	0	0	0	0	4465	507	18	0	2260	0	DGKA	12	56347514	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	204138	56347514	77504381	846	10854											
ERBB3	2065	broad.mit.edu	37	chr12	56481660	56481660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgccatgatgagtgtgCcgggggctgctcaggccctc	16	12	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:56481660C>T	uc001sjh.2	+	6	888	c.695C>T	c.(694-696)GCC>GTC	p.A232V	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.A173V|ERBB3_uc001sji.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	232	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GATGAGTGTGCCGGGGGCTGC	0.547													T	56481660	C	T	56481660	3	4	12	1	0	0	0	0	1	0	0	0	5208	739	26	2	848	2	ERBB3	12	56481660	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	134146	56481660	77370235	847	10855											
SMARCC2	6601	broad.mit.edu	37	chr12	56563427	56563427	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagactccaccacttcCttcagcacttcctcctgccc	3	22	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:56563427C>A	uc001skb.2	-	24	2614	c.2508G>T	c.(2506-2508)AAG>AAT	p.K836N	SMARCC2_uc001skd.2_Missense_Mutation_p.K867N|SMARCC2_uc001ska.2_Missense_Mutation_p.K867N|SMARCC2_uc001skc.2_Missense_Mutation_p.K866N|SMARCC2_uc010sqf.1_Missense_Mutation_p.K756N	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	836	Glu-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ccaccacttccttcagcactt	0.224													A	56563427	C	A	56563427	3	1	12	1	0	0	0	0	1	0	0	0	14776	680	24	5	1156	5	SMARCC2	12	56563427	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	81767	56563427	77288468	848	10856											
SLC39A5	283375	broad.mit.edu	37	chr12	56629344	56629344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaccttctctctgtcagGcacaagaagggcggcacgca	11	14	3	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:56629344G>A	uc010sqj.1	+	8	1062	c.805G>A	c.(805-807)GCA>ACA	p.A269T	SLC39A5_uc010sqi.1_Missense_Mutation_p.A160T|SLC39A5_uc010sqk.1_Missense_Mutation_p.A269T	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	269	Extracellular (Potential).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2						TCTCTGTCAGGCACAAGAAGG	0.587													A	56629344	G	A	56629344	3	1	12	1	0	0	0	0	1	0	0	0	14621	1217	42	2	823	2	SLC39A5	12	56629344	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	65917	56629344	77222551	849	10857											
STAT2	6773	broad.mit.edu	37	chr12	56749230	56749230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccacatctactaacctcCatcatagcccttaaatccag	2	16	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:56749230C>T	uc001slc.2	-	5	546	c.468G>A	c.(466-468)ATG>ATA	p.M156I	STAT2_uc001sld.2_Missense_Mutation_p.M152I|STAT2_uc010sqn.1_Missense_Mutation_p.M152I	NM_005419	NP_005410	P52630	STAT2_HUMAN	signal transducer and activator of transcription	156					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						TACTAACCTCCATCATAGCCC	0.522													T	56749230	C	T	56749230	3	4	12	1	0	0	0	0	1	0	0	0	15264	594	21	4	2167	4	STAT2	12	56749230	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	119886	56749230	77102665	850	10858											
INHBE	83729	broad.mit.edu	37	chr12	57849901	57849901	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttcagcctacagctcccTgctcacttttcacctgtcca	4	18	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:57849901T>C	uc001snw.2	+	2	547	c.323T>C	c.(322-324)CTG>CCG	p.L108P		NM_031479	NP_113667	P58166	INHBE_HUMAN	activin beta E precursor	108					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)	3						TACAGCTCCCTGCTCACTTTT	0.572											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	57849901	T	C	57849901	3	2	12	1	0	0	0	0	1	0	0	0	7744	1580	55	3	329	3	INHBE	12	57849901	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1100671	57849901	76001994	851	10859											
GLI1	2735	broad.mit.edu	37	chr12	57864396	57864396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccttggagaagccgagccGagtatccaggatacaacccc	10	14	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:57864396G>A	uc001snx.2	+	12	1951	c.1873G>A	c.(1873-1875)GAG>AAG	p.E625K	GLI1_uc009zpq.2_Missense_Mutation_p.E497K	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	625					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			AAGCCGAGCCGAGTATCCAGG	0.602													A	57864396	G	A	57864396	3	1	12	1	0	0	0	0	1	0	0	0	6437	1059	37	1	1915	1	GLI1	12	57864396	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	14495	57864396	75987499	852	10860											
MBD6	114785	broad.mit.edu	37	chr12	57920381	57920381	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccagctgcctccaaagccCcagtagtccccagccctgtg	8	19	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:57920381C>A	uc001soj.1	+	7	1677	c.1453C>A	c.(1453-1455)CCA>ACA	p.P485T	MBD6_uc001sok.1_Missense_Mutation_p.P352T|MBD6_uc001sol.1_RNA	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	485	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						CTCCAAAGCCCCAGTAGTCCC	0.617													A	57920381	C	A	57920381	3	1	12	1	0	0	0	0	1	0	0	0	9348	623	22	5	1471	5	MBD6	12	57920381	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	55985	57920381	75931514	853	10861											
FAM119B	25895	broad.mit.edu	37	chr12	58166907	58166907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggatcttggcagcgctGcagggtgcgtgagctggctt	19	8	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:58166907G>A	uc001sqg.2	+	2	410	c.285G>A	c.(283-285)CTG>CTA	p.L95L	METTL1_uc010ssd.1_5'Flank|METTL1_uc009zqc.2_5'Flank|FAM119B_uc001sqf.2_Silent_p.L95L|FAM119B_uc009zqd.2_Intron	NM_015433	NP_056248	Q96AZ1	MT21B_HUMAN	hypothetical protein LOC25895 isoform a	95	Helical; (Potential).					integral to membrane|intracellular	methyltransferase activity				0	all_cancers(7;9.07e-82)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TGGCAGCGCTGCAGGGTGCGT	0.572													A	58166907	G	A	58166907	2	1	12	1	0	0	0	0	0	0	0	1	5414	1306	46	2		2	FAM119B	12	58166907	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	246526	58166907	75684988	854	10862											
SRGAP1	57522	broad.mit.edu	37	chr12	64491077	64491077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattaactcagttgctggcGttctgaagctctatttccgt	8	9	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:64491077G>A	uc010ssp.1	+	15	1791	c.1735G>A	c.(1735-1737)GTT>ATT	p.V579I	SRGAP1_uc001srv.2_Missense_Mutation_p.V516I	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	579	Rho-GAP.				axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AGTTGCTGGCGTTCTGAAGCT	0.363													A	64491077	G	A	64491077	3	1	12	1	0	0	0	0	1	0	0	0	15144	1145	40	1	1793	1	SRGAP1	12	64491077	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	6324170	64491077	69360818	855	10863											
GNS	2799	broad.mit.edu	37	chr12	65141513	65141513	+	Frame_Shift_Del	DEL	A	A	-													tcatttaaatatttccctgcAaaaaaggtctgataaccaca							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:65141512_65141512CA>C	uc010ssq.2	-	3	705	c.535_535TG>G	c.(535-537)gcafs	p.A179fs	GNS_uc001ssf.3_Frame_Shift_Del_p.A91fs|GNS_uc001ssg.4_Frame_Shift_Del_p.A147fs|GNS_uc010ssr.2_Frame_Shift_Del_p.A127fs	NM_002076	NP_002067	P15586	GNS_HUMAN	Homo sapiens glucosamine (N-acetyl)-6-sulfatase (GNS), mRNA.	147						lysosome	N-acetylglucosamine-6-sulfatase activity|metal ion binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		TATTTCCCTGCAAAAAAGGTC	0.323													-	65141513	A	-	65141513	7	5	12	1	0	1	0	1	0	0	0	0	6550	127	5	0	1268	0	GNS	12	65141513	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	650436	65141513	68710382	856	10864											
TMBIM4	51643	broad.mit.edu	37	chr12	66539677	66539677	+	Frame_Shift_Del	DEL	A	A	-													agagtatacacagtcaaaccAaaaaatactgtagtagtcag							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:66539677delA	uc001stc.2	-	5	484	c.408delT	c.(406-408)TTTfs	p.F136fs	LLPH_uc010ssx.1_RNA|TMBIM4_uc001std.2_Frame_Shift_Del_p.F105fs|TMBIM4_uc009zqr.2_Frame_Shift_Del_p.F183fs|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_Frame_Shift_Del_p.F136fs|TMBIM4_uc009zqs.2_Frame_Shift_Del_p.F136fs	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	136	Helical; (Potential).					integral to membrane	protein binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(28;0.0745)		CAGTCAAACCAAAAAATACTG	0.284													-	66539677	A	-	66539677	7	5	12	1	0	1	0	1	0	0	0	0	15979	127	5	0	320	0	TMBIM4	12	66539677	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	1398164	66539677	67312218	857	10865											
TMBIM4	51643	broad.mit.edu	37	chr12	66547166	66547166	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaagtataaaaaaactgTtgaagtcactgtagttaaga	7	5	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:66547166T>C	uc001stc.2	-	2	236	c.160A>G	c.(160-162)ACA>GCA	p.T54A	LLPH_uc010ssx.1_RNA|TMBIM4_uc001std.2_Missense_Mutation_p.T23A|TMBIM4_uc009zqr.2_Missense_Mutation_p.T101A|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_Missense_Mutation_p.T54A|TMBIM4_uc009zqs.2_Missense_Mutation_p.T54A	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	54	Helical; (Potential).					integral to membrane	protein binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(28;0.0745)		AAAAAAACTGTTGAAGTCACT	0.313													C	66547166	T	C	66547166	3	2	12	1	0	0	0	0	1	0	0	0	15979	1725	60	3	580	3	TMBIM4	12	66547166	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	7489	66547166	67304729	858	10866											
HELB	92797	broad.mit.edu	37	chr12	66731962	66731962	+	RNA	DEL	A	A	-													taacgtcaaagtaccaagatAaaaaaagtttcctataactg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:66731962delA	uc010ssz.1	+	13		c.3448delA			HELB_uc009zqt.1_RNA			Q8NG08	HELB_HUMAN	Homo sapiens helicase B mRNA, complete cds.						DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GTACCAAGATAAAAAAAGTTT	0.294													-	66731962	A	-	66731962	6	5	12	0	1	1	0	1	0	0	0	0	7045	377	13	0		0	HELB	12	66731962	RNA	DEL	A	TCGA-BR-4257-01A-01D-1126-08	184796	66731962	67119933	859	10867											
YEATS4	8089	broad.mit.edu	37	chr12	69784045	69784045	+	Frame_Shift_Del	DEL	A	A	-													cgtgaaactataaattgtttAaaaaatgaaatcagaaaact							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:69784045delA	uc001sux.2	+	7	854	c.633delA	c.(631-633)TTAfs	p.L211fs		NM_006530	NP_006521	O95619	YETS4_HUMAN	glioma-amplified sequence-41	211	Interaction with MLLT10.|Potential.|Interaction with TACC1.				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton				0	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			TAAATTGTTTAAAAAATGAAA	0.323													-	69784045	A	-	69784045	7	5	12	1	0	1	0	1	0	0	0	0	17470	359	13	0	659	0	YEATS4	12	69784045	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	3052083	69784045	64067850	860	10868											
PTPRR	5801	broad.mit.edu	37	chr12	71139707	71139707	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagggtccacgacaacatTcagtacctttggggcctgct	11	11	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:71139707T>C	uc001swi.1	-	6	1314	c.898A>G	c.(898-900)AAT>GAT	p.N300D	PTPRR_uc001swh.1_Missense_Mutation_p.N55D|PTPRR_uc009zrs.2_Missense_Mutation_p.N149D|PTPRR_uc010stq.1_Missense_Mutation_p.N188D|PTPRR_uc010str.1_Missense_Mutation_p.N149D	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	300	Cytoplasmic (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ACGACAACATTCAGTACCTTT	0.542													C	71139707	T	C	71139707	3	2	12	1	0	0	0	0	1	0	0	0	12810	1783	62	3	1111	3	PTPRR	12	71139707	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1355662	71139707	62712188	861	10869											
LGR5	8549	broad.mit.edu	37	chr12	71977612	71977612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgaacatgctcacgggaGtctccagtgccgtgctggct	13	12	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:71977612G>A	uc001swl.2	+	18	1870	c.1822G>A	c.(1822-1824)GTC>ATC	p.V608I	LGR5_uc001swm.2_Missense_Mutation_p.V584I|LGR5_uc001swn.1_RNA	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	608	Helical; Name=2; (Potential).					integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						GCTCACGGGAGTCTCCAGTGC	0.512													A	71977612	G	A	71977612	3	1	12	1	0	0	0	0	1	0	0	0	8757	1029	36	4	1892	4	LGR5	12	71977612	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	837905	71977612	61874283	862	10870											
TRHDE	29953	broad.mit.edu	37	chr12	72667257	72667257	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcgcagaggaattacaatctGaagattatctacaacgcgct	9	9	2	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:72667257G>A	uc001sxa.2	+	1	729	c.699G>A	c.(697-699)CTG>CTA	p.L233L	LOC283392_uc010stv.1_5'UTR	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	233	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						ATTACAATCTGAAGATTATCT	0.557													A	72667257	G	A	72667257	2	1	12	1	0	0	0	0	0	0	0	1	16476	1277	45	4		4	TRHDE	12	72667257	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	689645	72667257	61184638	863	10871											
MYF6	4618	broad.mit.edu	37	chr12	81101547	81101548	+	Frame_Shift_Ins	INS	-	-	G													ctatttcttctacttggatgINSgggaaaatgttactctgcag							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:81101546_81101547T>TG	uc001szf.2	+	0	139_140	c.48_49T>TG	c.(46-51)gatgggfs	p.D16fs		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	16					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	p.G17G(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TCTACTTGGATGGGGAAAATGT	0.495													G	81101548	-	G	81101547	7	5	12	1	0	1	1	0	0	0	0	0	10028	1348	47	0	51	0	MYF6	12	81101547	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	8434290	81101547	52750348	864	10872											
MYF5	4617	broad.mit.edu	37	chr12	81110900	81110900	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtacttctacgacggctccTgcataccgtcccccgagggt	10	15	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:81110900T>A	uc001szg.2	+	1	193	c.58T>A	c.(58-60)TGC>AGC	p.C20S		NM_005593	NP_005584	P13349	MYF5_HUMAN	myogenic factor 5	20					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						CGACGGCTCCTGCATACCGTC	0.617													A	81110900	T	A	81110900	3	1	12	1	0	0	0	0	1	0	0	0	10027	1580	55	5	60	5	MYF5	12	81110900	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	9353	81110900	52740995	865	10873											
CEP290	80184	broad.mit.edu	37	chr12	88472895	88472895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctagtatgtcgatcaaCgatttgttgaacattgagat	8	7	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:88472895C>T	uc001tar.2	-	39	5682	c.5338G>A	c.(5338-5340)GTT>ATT	p.V1780I	CEP290_uc001taq.2_Missense_Mutation_p.V840I	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1780	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						TGTCGATCAACGATTTGTTGA	0.373													T	88472895	C	T	88472895	3	4	12	1	0	0	0	0	1	0	0	0	3253	536	19	1	2165	1	CEP290	12	88472895	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	7361995	88472895	45379000	866	10874											
NR2C1	7181	broad.mit.edu	37	chr12	95442864	95442864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgaaagctacatgtgaatCgctgagaagtggcccctctt	10	11	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:95442864C>T	uc001tdm.3	-	9	1367	c.1111G>A	c.(1111-1113)GAT>AAT	p.D371N	NR2C1_uc010suu.1_Missense_Mutation_p.D371N|NR2C1_uc001tdo.3_Missense_Mutation_p.D371N|NR2C1_uc001tdn.3_Missense_Mutation_p.D371N	NM_003297	NP_003288	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	371					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1						ACATGTGAATCGCTGAGAAGT	0.393													T	95442864	C	T	95442864	3	4	12	1	0	0	0	0	1	0	0	0	10622	884	31	1	802	1	NR2C1	12	95442864	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	6969969	95442864	38409031	867	10875											
CCDC38	120935	broad.mit.edu	37	chr12	96292234	96292234	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggagtttgtttattgtttcCtgtgctgccctgaaaagcaa	10	7	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:96292234C>A	uc001tek.1	-	7	777	c.543G>T	c.(541-543)CAG>CAT	p.Q181H		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	181	Potential.									skin(1)	1						TTATTGTTTCCTGTGCTGCCC	0.403													A	96292234	C	A	96292234	3	1	12	1	0	0	0	0	1	0	0	0	2810	680	24	5	1188	5	CCDC38	12	96292234	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	849370	96292234	37559661	868	10876											
APAF1	317	broad.mit.edu	37	chr12	99076985	99076985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactcagagcaagtcaattGctgccatttcaccaacagta	7	12	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:99076985G>A	uc001tfz.2	+	15	2688	c.2111G>A	c.(2110-2112)TGC>TAC	p.C704Y	APAF1_uc001tfy.2_Missense_Mutation_p.C693Y|APAF1_uc001tga.2_Missense_Mutation_p.C693Y|APAF1_uc001tgb.2_Missense_Mutation_p.C704Y|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Missense_Mutation_p.C113Y	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	704	WD 3.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	CAAGTCAATTGCTGCCATTTC	0.378													A	99076985	G	A	99076985	3	1	12	1	0	0	0	0	1	0	0	0	755	1319	46	2	2165	2	APAF1	12	99076985	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2784751	99076985	34774910	869	10877											
NR1H4	9971	broad.mit.edu	37	chr12	100957089	100957089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagccacttcttgatgTgctacaaaagttgtgtaaga	10	7	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:100957089T>C	uc001tht.1	+	9	1311	c.1283T>C	c.(1282-1284)GTG>GCG	p.V428A	NR1H4_uc001thp.1_Missense_Mutation_p.V414A|NR1H4_uc001thq.1_Missense_Mutation_p.V418A|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.V418A|NR1H4_uc010svk.1_Missense_Mutation_p.V367A|NR1H4_uc001ths.1_Missense_Mutation_p.V424A	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	428	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						CTTCTTGATGTGCTACAAAAG	0.388													C	100957089	T	C	100957089	3	2	12	1	0	0	0	0	1	0	0	0	10619	1696	59	3	1275	3	NR1H4	12	100957089	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1880104	100957089	32894806	870	10878											
GAS2L3	283431	broad.mit.edu	37	chr12	101005888	101005888	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtagggacattggggttgaTgaaacttacctctttgaatc	11	6	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:101005888T>C	uc001thu.2	+	6	640	c.414T>C	c.(412-414)GAT>GAC	p.D138D	GAS2L3_uc009zty.2_Silent_p.D138D|GAS2L3_uc001thv.2_Silent_p.D34D	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	138	CH.				cell cycle arrest					skin(1)	1						TTGGGGTTGATGAAACTTACC	0.393													C	101005888	T	C	101005888	2	2	12	1	0	0	0	0	0	0	0	1	6248	1461	51	3		3	GAS2L3	12	101005888	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	48799	101005888	32846007	871	10879											
GNPTAB	79158	broad.mit.edu	37	chr12	102158446	102158446	+	Frame_Shift_Del	DEL	T	T	-													catctgttattatagcttgaTtttttattttagcatgctgt							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:102158445_102158445AT>A	uc001tit.3	-	12	2442	c.2250_2250AT>T	c.(2248-2250)aatfs	p.N750fs		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (GNPTAB), mRNA.	750					cell differentiation	Golgi membrane|integral to membrane|nucleus	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity|metal ion binding|transcription factor binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTATAGCTTGATTTTTTATTT	0.378													-	102158446	T	-	102158446	7	5	12	1	0	1	0	1	0	0	0	0	6545	1493	52	0	1557	0	GNPTAB	12	102158446	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	1152558	102158446	31693449	872	10880											
IGF1	3479	broad.mit.edu	37	chr12	102811694	102811694	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagacttgcttctgtccCctccttctgttcccctcctg	6	18	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:102811694C>A	uc001tjp.3	-	4	709	c.490G>T	c.(490-492)GGG>TGG	p.G164W	IGF1_uc001tjn.2_Intron|IGF1_uc001tjm.2_Intron|IGF1_uc001tjo.2_Intron	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	insulin-like growth factor 1 isoform 3	164					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|pancreas(1)	2						GCTTCTGTCCCCTCCTTCTGT	0.468													A	102811694	C	A	102811694	3	1	12	1	0	0	0	0	1	0	0	0	7570	623	22	5	165	5	IGF1	12	102811694	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	653248	102811694	31040201	873	10881											
RIC8B	55188	broad.mit.edu	37	chr12	107254141	107254141	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggagataattggtacTcagaggatgaggacacagac	14	5	1	5			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:107254141T>G	uc001tlx.2	+	8	1527	c.1402T>G	c.(1402-1404)TCA>GCA	p.S468A	RIC8B_uc001tlw.2_Missense_Mutation_p.S468A|RIC8B_uc001tly.2_Missense_Mutation_p.S428A|RIC8B_uc001tlz.2_RNA|RIC8B_uc009zur.2_RNA	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	resistance to inhibitors of cholinesterase 8	468					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			ovary(1)	1						TAATTGGTACTCAGAGGATGA	0.458													G	107254141	T	G	107254141	3	3	12	1	0	0	0	0	1	0	0	0	13356	1551	54	5	1432	5	RIC8B	12	107254141	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	4442447	107254141	26597754	874	10882											
MTERFD3	80298	broad.mit.edu	37	chr12	107371383	107371383	+	Frame_Shift_Del	DEL	T	T	-													gggttaaataatggccttacTtttttggcctgaattttgcc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:107371382_107371382CT>C	uc001tme.1	-	1	2930	c.1111_1111AG>G	c.(1111-1113)gtafs	p.V371fs	MTERFD3_uc001tmf.1_Frame_Shift_Del_p.V371fs|MTERFD3_uc001tmg.1_Frame_Shift_Del_p.V371fs|MTERFD3_uc021rdh.1_Frame_Shift_Del_p.V371fs|MTERFD3_uc001tmh.1_Frame_Shift_Del_p.V371fs	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						AATGGCCTTACTTTTTTGGCC	0.373													-	107371383	T	-	107371383	7	5	12	1	0	1	0	1	0	0	0	0	9921	1606	56	0	51	0	MTERFD3	12	107371383	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	117242	107371383	26480512	875	10883											
ISCU	23479	broad.mit.edu	37	chr12	108958107	108958107	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggggtcccttgacaagacatCtaaaaatgttggaactggac	11	8	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:108958107C>T	uc010sxc.1	+	2	272	c.167C>T	c.(166-168)TCT>TTT	p.S56F	SART3_uc001tmz.1_5'Flank|SART3_uc009zux.1_5'Flank|SART3_uc010swx.1_5'Flank|SART3_uc010swz.1_5'Flank|SART3_uc001tna.1_5'Flank|SART3_uc001tnb.2_5'Flank|ISCU_uc010sxa.1_Missense_Mutation_p.S56F|ISCU_uc010sxb.1_Missense_Mutation_p.S56F|ISCU_uc001tnc.3_Missense_Mutation_p.S31F|ISCU_uc009zuy.2_Missense_Mutation_p.S31F|ISCU_uc010sxd.1_Missense_Mutation_p.S56F	NM_213595	NP_998760	Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme isoform	56					iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold				0						GACAAGACATCTAAAAATGTT	0.383													T	108958107	C	T	108958107	3	4	12	1	0	0	0	0	1	0	0	0	7852	913	32	4	98	4	ISCU	12	108958107	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1586724	108958107	24893788	876	10884											
TRPV4	59341	broad.mit.edu	37	chr12	110226433	110226433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaggtctcgctgtcacgGcacgaggggtaagtgggcac	16	10	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:110226433G>A	uc001tpj.1	-	12	2075	c.1980C>T	c.(1978-1980)TGC>TGT	p.C660C	TRPV4_uc001tpg.1_Silent_p.C626C|TRPV4_uc001tph.1_Silent_p.C613C|TRPV4_uc001tpi.1_Silent_p.C553C|TRPV4_uc001tpk.1_Silent_p.C660C|TRPV4_uc001tpl.1_Silent_p.C600C	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	660					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						CGCTGTCACGGCACGAGGGGT	0.597													A	110226433	G	A	110226433	2	1	12	1	0	0	0	0	0	0	0	1	16595	1195	42	2		2	TRPV4	12	110226433	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1268326	110226433	23625462	877	10885											
VPS29	51699	broad.mit.edu	37	chr12	110933822	110933822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggaaatacatcacctcatCgaagtctcctctcacaatat	5	12	4	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:110933822C>T	uc001tqy.2	-	2	250	c.190G>A	c.(190-192)GAT>AAT	p.D64N	VPS29_uc001tqw.2_RNA|VPS29_uc001tqx.2_Missense_Mutation_p.D68N|VPS29_uc001tqz.2_RNA	NM_016226	NP_057310	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 isoform 1	64					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity				0						ATCACCTCATCGAAGTCTCCT	0.398													T	110933822	C	T	110933822	3	4	12	1	0	0	0	0	1	0	0	0	17197	884	31	1	370	1	VPS29	12	110933822	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	707389	110933822	22918073	878	10886											
PLBD2	196463	broad.mit.edu	37	chr12	113824823	113824823	+	Frame_Shift_Del	DEL	C	C	-													tggttttcttatgacgggagCccccgggcccagatcttccg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:113824822_113824822GC>G	uc001tve.2	+	9	1402	c.1367_1367GC>G	c.(1366-1368)agcfs	p.S456fs	PLBD2_uc001tvf.2_Frame_Shift_Del_p.S424fs	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	456					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TATGACGGGAGCCCCCGGGCC	0.602													-	113824823	C	-	113824823	7	5	12	1	0	1	0	1	0	0	0	0	12026	738	26	0	1406	0	PLBD2	12	113824823	Frame_Shift_Del	DEL	C	TCGA-BR-4257-01A-01D-1126-08	2891001	113824823	20027072	879	10887											
PLBD2	196463	broad.mit.edu	37	chr12	113825620	113825620	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcccaatggggagaatgCtatctccgcccgctccgacc	10	17	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:113825620C>A	uc001tve.2	+	11	1546	c.1511C>A	c.(1510-1512)GCT>GAT	p.A504D	PLBD2_uc001tvf.2_Missense_Mutation_p.A472D	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2 isoform 1	504					lipid catabolic process	lysosomal lumen	hydrolase activity				0						GGGGAGAATGCTATCTCCGCC	0.597													A	113825620	C	A	113825620	3	1	12	1	0	0	0	0	1	0	0	0	12026	797	28	5	1553	5	PLBD2	12	113825620	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	797	113825620	20026275	880	10888											
FBXO21	23014	broad.mit.edu	37	chr12	117624320	117624320	+	Frame_Shift_Del	DEL	A	A	-													atacacaccagttcatcctcAaaaaaaatctctggtccttc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:117624319_117624319CA>C	uc001twk.3	-	2	472	c.433_433TG>G	c.(433-435)gagfs	p.E145fs	FBXO21_uc001twj.3_Frame_Shift_Del_p.E145fs|FBXO21_uc009zwq.3_Frame_Shift_Del_p.E145fs	NM_033624	NP_296373	O94952	FBX21_HUMAN	Homo sapiens F-box protein 21 (FBXO21), transcript variant 1, mRNA.	145					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.F144fs*9(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		AGTTCATCCTCAAAAAAAATC	0.368													-	117624320	A	-	117624320	7	5	12	1	0	1	0	1	0	0	0	0	5733	127	5	0	1494	0	FBXO21	12	117624320	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	3798700	117624320	16227575	881	10889											
CCDC60	160777	broad.mit.edu	37	chr12	119773072	119773072	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctcggagaacctaaggcagGtaagtctcccctctgctgaa	10	13	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:119773072G>C	uc001txe.2	+	1	555	c.90_splice	c.e1+1	p.Q30_splice		NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60											ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCTAAGGCAGGTAAGTCTCCC	0.373													C	119773072	G	C	119773072	5	2	12	1	0	0	0	0	0	0	1	0	2831	1275	44	5	93	5	CCDC60	12	119773072	Splice_Site	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2148752	119773072	14078823	882	10890											
UNC119B	84747	broad.mit.edu	37	chr12	121154782	121154782	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actttgattttggcttctgcAtccccagcagtaggaacact	8	11	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:121154782A>G	uc001tyz.2	+	4	1027	c.580A>G	c.(580-582)ATC>GTC	p.I194V		NM_001080533	NP_001074002	A6NIH7	U119B_HUMAN	unc-119 homolog B	194										haematopoietic_and_lymphoid_tissue(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGGCTTCTGCATCCCCAGCAG	0.458													G	121154782	A	G	121154782	3	3	12	1	0	0	0	0	1	0	0	0	16980	217	8	3	594	3	UNC119B	12	121154782	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1381710	121154782	12697113	883	10891											
B3GNT4	79369	broad.mit.edu	37	chr12	122691078	122691078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccctgcctagccgtcacCgtctcttcttgacctatcgt	7	16	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:122691078C>T	uc001ubx.2	+	3	498	c.280C>T	c.(280-282)CGT>TGT	p.R94C	B3GNT4_uc001uby.2_Missense_Mutation_p.R69C	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal	94	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		TAGCCGTCACCGTCTCTTCTT	0.577													T	122691078	C	T	122691078	3	4	12	1	0	0	0	0	1	0	0	0	1259	652	23	1	286	1	B3GNT4	12	122691078	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1536296	122691078	11160817	884	10892											
GPR109A	338442	broad.mit.edu	37	chr12	123187233	123187233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacaggatgatgcccagggGcaggaagaactccaggagga	16	8	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:123187233G>A	uc001ucx.1	-	1	672	c.598C>T	c.(598-600)CCC>TCC	p.P200S	GPR81_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	G protein-coupled receptor 109A	200	Helical; Name=5; (Potential).				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	ATGCCCAGGGGCAGGAAGAAC	0.542													A	123187233	G	A	123187233	3	1	12	1	0	0	0	0	1	0	0	0	6625	1203	42	2	497	2	GPR109A	12	123187233	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	496155	123187233	10664662	885	10893											
SBNO1	55206	broad.mit.edu	37	chr12	123810084	123810084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatcattcaattctcccccGccctcttccaaagcttctaa	2	16	5	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:123810084G>A	uc010tap.1	-	14	1938	c.1938C>T	c.(1936-1938)GGC>GGT	p.G646G	SBNO1_uc010tao.1_Silent_p.G645G|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Silent_p.G646G|SBNO1_uc001ueu.2_Silent_p.G645G|SBNO1_uc001uev.2_Silent_p.G644G|SBNO1_uc009zxy.1_Silent_p.G611G	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	646							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATTCTCCCCCGCCCTCTTCCA	0.338													A	123810084	G	A	123810084	2	1	12	1	0	0	0	0	0	0	0	1	13862	1074	38	1		1	SBNO1	12	123810084	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	622851	123810084	10041811	886	10894											
DDX55	57696	broad.mit.edu	37	chr12	124092063	124092063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttcacgaagcacttccccGagttcaggtgaattggatgc	10	10	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:124092063G>A	uc001ufi.2	+	4	355	c.331G>A	c.(331-333)GAG>AAG	p.E111K	DDX55_uc001ufh.2_5'UTR|DDX55_uc001ufj.1_Intron|DDX55_uc001ufk.2_5'UTR	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	111	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GCACTTCCCCGAGTTCAGGTG	0.488													A	124092063	G	A	124092063	3	1	12	1	0	0	0	0	1	0	0	0	4373	1059	37	1	345	1	DDX55	12	124092063	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	281979	124092063	9759832	887	10895											
P2RX2	22953	broad.mit.edu	37	chr12	133197638	133197638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtgacctggacctgcctGcatcggagtgcaaccccaag	11	14	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:133197638G>A	uc001ukj.1	+	8	826	c.826G>A	c.(826-828)GCA>ACA	p.A276T	P2RX2_uc001uki.1_Missense_Mutation_p.A276T|P2RX2_uc001ukk.1_Missense_Mutation_p.A276T|P2RX2_uc001ukl.1_Missense_Mutation_p.A252T|P2RX2_uc001ukm.1_Missense_Mutation_p.A204T|P2RX2_uc001ukn.1_Missense_Mutation_p.A184T|P2RX2_uc009zyt.1_Missense_Mutation_p.A276T|P2RX2_uc001uko.1_Missense_Mutation_p.A242T	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X2 isoform A	276	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		GGACCTGCCTGCATCGGAGTG	0.607													A	133197638	G	A	133197638	3	1	12	1	0	0	0	0	1	0	0	0	11340	1319	46	2	856	2	P2RX2	12	133197638	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	9105575	133197638	654257	888	10896											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20242596	20242596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaaccagtttttccaatcGcatgtcatcgactctgtgag	8	10	2	2	rs145688067		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:20242596G>A	uc001umh.2	+	11	2263	c.2254G>A	c.(2254-2256)GCA>ACA	p.A752T	MPHOSPH8_uc001umg.2_Missense_Mutation_p.A752T	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	752					cell cycle	cytoplasm|nucleus					0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		TTTTCCAATCGCATGTCATCG	0.418													A	20242596	G	A	20242596	3	1	12	1	0	0	0	0	1	0	0	0	9727	1087	38	1	2296	1	MPHOSPH8	13	20242596	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08		20242596	94927282	889	10897											
GJB6	10804	broad.mit.edu	37	chr13	20797345	20797345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagtaggccacatgcatgGccaccagcagcgctggggtg	15	11	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:20797345G>A	uc001umz.3	-	3	828	c.275C>T	c.(274-276)GCC>GTC	p.A92V	GJB6_uc001unc.3_Missense_Mutation_p.A92V|GJB6_uc001una.3_Missense_Mutation_p.A92V|GJB6_uc001und.3_Missense_Mutation_p.A92V|GJB6_uc001unb.3_Missense_Mutation_p.A92V	NM_006783	NP_006774	O95452	CXB6_HUMAN	gap junction protein, beta 6	92	Helical; (Potential).				cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				ovary(1)	1		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		CACATGCATGGCCACCAGCAG	0.527													A	20797345	G	A	20797345	3	1	12	1	0	0	0	0	1	0	0	0	6412	1203	42	2	514	2	GJB6	13	20797345	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	554749	20797345	94372533	890	10898											
EFHA1	221154	broad.mit.edu	37	chr13	22070218	22070218	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaggacgatgagctaaacTgaacatctgcatggcaatag	11	8	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:22070218T>C	uc001uof.2	-	10	1037	c.1015A>G	c.(1015-1017)AGT>GGT	p.S339G	EFHA1_uc010tct.1_Missense_Mutation_p.S129G	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	EF-hand domain family, member A1	339							calcium ion binding				0		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		TGAGCTAAACTGAACATCTGC	0.313													C	22070218	T	C	22070218	3	2	12	1	0	0	0	0	1	0	0	0	4943	1580	55	3	301	3	EFHA1	13	22070218	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1272873	22070218	93099660	891	10899											
SGCG	6445	broad.mit.edu	37	chr13	23824814	23824814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagaatgtgactgtaaatGcgcgcaactcagaaggggag	13	9	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:23824814G>A	uc001uom.2	+	4	498	c.343G>A	c.(343-345)GCG>ACG	p.A115T	SGCG_uc009zzv.2_Missense_Mutation_p.A115T|SGCG_uc009zzw.2_Missense_Mutation_p.A115T	NM_000231	NP_000222	Q13326	SGCG_HUMAN	gamma sarcoglycan	115	Extracellular (Potential).				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma					0		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GACTGTAAATGCGCGCAACTC	0.403													A	23824814	G	A	23824814	3	1	12	1	0	0	0	0	1	0	0	0	14203	1319	46	2	353	2	SGCG	13	23824814	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1754596	23824814	91345064	892	10900											
ATP12A	479	broad.mit.edu	37	chr13	25262595	25262595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatcctcctgtgggtgggcGcctttctctgttggattgca	12	11	1	0	rs149324896		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:25262595G>A	uc001upp.2	+	4	554	c.367G>A	c.(367-369)GCC>ACC	p.A123T	ATP12A_uc010aaa.2_Missense_Mutation_p.A123T	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	123	Helical; (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GTGGGTGGGCGCCTTTCTCTG	0.572													A	25262595	G	A	25262595	3	1	12	1	0	0	0	0	1	0	0	0	1122	1087	38	1	381	1	ATP12A	13	25262595	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1437781	25262595	89907283	893	10901											
GSX1	219409	broad.mit.edu	37	chr13	28367816	28367816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgtacctgtcccgcctaCgtcgcatcgagatcgcgacc	9	15	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:28367816C>T	uc001urr.1	+	2	574	c.526C>T	c.(526-528)CGT>TGT	p.R176C		NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	GS homeobox 1	176	Homeobox.				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GTCCCGCCTACGTCGCATCGA	0.582													T	28367816	C	T	28367816	3	4	12	1	0	0	0	0	1	0	0	0	6849	536	19	1	532	1	GSX1	13	28367816	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3105221	28367816	86802062	894	10902											
PAN3	255967	broad.mit.edu	37	chr13	28834653	28834653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatgcaaccgaaagcaaacGcaccttccttcttcatggct	6	13	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:28834653G>A	uc001urz.2	+	7	888	c.880G>A	c.(880-882)GCA>ACA	p.A294T	PAN3_uc010tdo.1_Missense_Mutation_p.A440T|PAN3_uc001ury.2_Missense_Mutation_p.A128T|PAN3_uc001urx.2_Missense_Mutation_p.A240T	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	440	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GAAAGCAAACGCACCTTCCTT	0.418													A	28834653	G	A	28834653	3	1	12	1	0	0	0	0	1	0	0	0	11415	1087	38	1	1348	1	PAN3	13	28834653	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	466837	28834653	86335225	895	10903											
RXFP2	122042	broad.mit.edu	37	chr13	32366011	32366011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtatgcccttgacggacgGcatttcttcatttgaggacc	10	10	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:32366011G>A	uc001utt.2	+	15	1285	c.1214G>A	c.(1213-1215)GGC>GAC	p.G405D	RXFP2_uc010aba.2_Missense_Mutation_p.G364D	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	405	Extracellular (Potential).					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTGACGGACGGCATTTCTTCA	0.393													A	32366011	G	A	32366011	3	1	12	1	0	0	0	0	1	0	0	0	13760	1203	42	2	1272	2	RXFP2	13	32366011	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	3531358	32366011	82803867	896	10904											
SPG20	23111	broad.mit.edu	37	chr13	36909438	36909438	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtgaccttcagcagctTgaggagtataagcaggagga	14	6	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:36909438T>C	uc001uvn.2	-	3	800	c.530A>G	c.(529-531)CAA>CGA	p.Q177R	SPG20_uc010ten.1_Missense_Mutation_p.Q177R|SPG20_uc001uvm.2_Missense_Mutation_p.Q177R|SPG20_uc001uvo.2_Missense_Mutation_p.Q177R|SPG20_uc001uvq.2_Missense_Mutation_p.Q177R|SPG20_uc001uvp.2_Missense_Mutation_p.Q177R	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	177					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTCAGCAGCTTGAGGAGTATA	0.483													C	36909438	T	C	36909438	3	2	12	1	0	0	0	0	1	0	0	0	15041	1812	63	3	1502	3	SPG20	13	36909438	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	4543427	36909438	78260440	897	10905											
C13orf23	80209	broad.mit.edu	37	chr13	39587850	39587850	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatagcacttgttaggggcTgaagcagaagagtcagagtt	14	6	1	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:39587850T>C	uc001uwy.2	-	11	2412	c.1539A>G	c.(1537-1539)TCA>TCG	p.S513S	C13orf23_uc001uwz.2_Silent_p.S491S	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	513	Ser-rich.									ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)		TGTTAGGGGCTGAAGCAGAAG	0.532													C	39587850	T	C	39587850	2	2	12	1	0	0	0	0	0	0	0	1	1721	1567	55	3		3	C13orf23	13	39587850	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	2678412	39587850	75582028	898	10906											
NAA16	79612	broad.mit.edu	37	chr13	41943312	41943312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactagaagaagaaagaaagCatgcagaaagagaacgtcaa	10	5	1	6			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:41943312C>T	uc001uyf.2	+	15	2164	c.1840C>T	c.(1840-1842)CAT>TAT	p.H614Y	NAA16_uc010tfg.1_RNA	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	NMDA receptor regulated 1-like protein isoform	614					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			central_nervous_system(1)	1						agaaagaaagcatgcagaaag	0.214													T	41943312	C	T	41943312	3	4	12	1	0	0	0	0	1	0	0	0	10119	710	25	2	1931	2	NAA16	13	41943312	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2355462	41943312	73226566	899	10907											
TPT1	7178	broad.mit.edu	37	chr13	45914128	45914128	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtactgccagtatcacttaCgatttcatgtaatctttgat	7	8	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:45914128C>A	uc001uzy.1	-	3	386	c.293_splice	c.e3+1	p.S98_splice	TPT1_uc001uzz.1_Splice_Site_p.S64_splice|SNORA31_uc001vaa.1_5'Flank|LOC100190939_uc010tfr.1_5'Flank|LOC100190939_uc001vac.2_5'Flank	NM_003295	NP_003286	P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1						anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding				0		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		GTATCACTTACGATTTCATGT	0.383													A	45914128	C	A	45914128	5	1	12	1	0	0	0	0	0	0	1	0	16426	550	19	5	240	5	TPT1	13	45914128	Splice_Site	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3970816	45914128	69255750	900	10908											
CAB39L	81617	broad.mit.edu	37	chr13	49906086	49906086	+	Frame_Shift_Del	DEL	A	A	-													gagcttgtactttttaccttAaaaacatgaaaggcttcaaa							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:49906085_49906085TA>T	uc001vcw.3	-	7	1330	c.832_832TA>A	c.(832-834)aagfs	p.K278fs	CAB39L_uc001vcx.3_Frame_Shift_Del_p.K278fs|CAB39L_uc010adf.3_Frame_Shift_Del_p.K275fs	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	Homo sapiens calcium binding protein 39-like (CAB39L), transcript variant 1, mRNA.	278					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		CTTTTTACCTTAAAAACATGA	0.398													-	49906086	A	-	49906086	7	5	12	1	0	1	0	1	0	0	0	0	2526	359	13	0	190	0	CAB39L	13	49906086	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	3991958	49906086	65263792	901	10909											
KPNA3	3839	broad.mit.edu	37	chr13	50279819	50279819	+	Frame_Shift_Del	DEL	T	T	-													caccggccattatcagaatgTtttttagaccatctagaacc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:50279818_50279818GT>G	uc001vdj.2	-	14	1726	c.1311_1311AC>C	c.(1309-1311)aacfs	p.N437fs		NM_002267	NP_002258	O00505	IMA3_HUMAN	Homo sapiens karyopherin alpha 3 (importin alpha 4) (KPNA3), mRNA.	437					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		TTATCAGAATGTTTTTTAGAC	0.398													-	50279819	T	-	50279819	7	5	12	1	0	1	0	1	0	0	0	0	8431	1725	60	0	267	0	KPNA3	13	50279819	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	373733	50279819	64890059	902	10910											
NEK5	341676	broad.mit.edu	37	chr13	52639595	52639595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggtcttcccttcctgaCgactgacgctaagcacagac	8	15	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:52639595C>T	uc001vge.2	-	22	2215	c.2075G>A	c.(2074-2076)CGT>CAT	p.R692H		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	692							ATP binding|metal ion binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)	1		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CCCTTCCTGACGACTGACGCT	0.547													T	52639595	C	T	52639595	3	4	12	1	0	0	0	0	1	0	0	0	10327	536	19	1	55	1	NEK5	13	52639595	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2359776	52639595	62530283	903	10911											
NEK3	4752	broad.mit.edu	37	chr13	52718829	52718829	+	Frame_Shift_Del	DEL	G	G	-													tccaacacagatcatacctcGgggggtaagcacttctggac							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:52718828_52718828CG>C	uc001vgh.3	-	7	2096	c.865_865CG>G	c.(865-867)gagfs	p.E289fs	NEK3_uc001vgi.3_Frame_Shift_Del_p.E268fs|NEK3_uc010tgx.2_Non-coding_Transcript|NEK3_uc010tgy.2_Frame_Shift_Del_p.E268fs	NM_001146099	NP_001139571	P51956	NEK3_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 3 (NEK3), transcript variant 3, mRNA.	268					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		GATCATACCTCGGGGGGTAAG	0.433													-	52718829	G	-	52718829	7	5	12	1	0	1	0	1	0	0	0	0	10325	1103	39	0	751	0	NEK3	13	52718829	Frame_Shift_Del	DEL	G	TCGA-BR-4257-01A-01D-1126-08	79234	52718829	62451049	904	10912											
SUGT1	10910	broad.mit.edu	37	chr13	53239778	53239778	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttttttaataggtatgaCtggtatcaaacagaatctca	6	5	2	2	rs148803576		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:53239778C>T	uc001vhc.2	+	10	750	c.525C>T	c.(523-525)GAC>GAT	p.D175D	SUGT1_uc001vha.2_RNA|SUGT1_uc001vhb.2_Silent_p.D143D|SUGT1_uc010thb.1_Silent_p.D87D|SUGT1_uc001vhd.2_Silent_p.D32D	NM_001130912	NP_001124384	Q9Y2Z0	SUGT1_HUMAN	suppressor of G2 allele of SKP1 isoform a	175	CS.				mitosis	kinetochore|ubiquitin ligase complex	binding				0		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		ATAGGTATGACTGGTATCAAA	0.303													T	53239778	C	T	53239778	2	4	12	1	0	0	0	0	0	0	0	1	15368	564	20	4		4	SUGT1	13	53239778	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	520949	53239778	61930100	905	10913											
PCDH17	27253	broad.mit.edu	37	chr13	58208795	58208795	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccactgggacatgtcGctgccgctcatcgtgactct	10	15	2	1	rs79688799	by1000genomes	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:58208795G>A	uc001vhq.1	+	1	3007	c.2115G>A	c.(2113-2115)TCG>TCA	p.S705S	PCDH17_uc010aec.1_Silent_p.S705S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	705	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGGACATGTCGCTGCCGCTCA	0.612													A	58208795	G	A	58208795	2	1	12	1	0	0	0	0	0	0	0	1	11512	1074	38	1		1	PCDH17	13	58208795	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	4969017	58208795	56961083	906	10914											
DIAPH3	81624	broad.mit.edu	37	chr13	60413550	60413550	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagctgccttcccatctGcctcaaattcttttccagcg	6	14	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:60413550G>A	uc001vht.2	-	23	2989	c.2770C>T	c.(2770-2772)CAG>TAG	p.Q924*	DIAPH3_uc001vhu.2_Nonsense_Mutation_p.Q661*	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	924	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTTCCCATCTGCCTCAAATTC	0.403													A	60413550	G	A	60413550	4	1	12	1	0	0	0	0	0	1	0	0	4520	1328	46	2	855	2	DIAPH3	13	60413550	Nonsense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2204755	60413550	54756328	907	10915											
DIAPH3	81624	broad.mit.edu	37	chr13	60737769	60737769	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggggccactgggcggcggAgggtgttgggggcccttcct	20	11	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:60737769A>G	uc001vht.2	-	1	351	c.132T>C	c.(130-132)CCT>CCC	p.P44P	DIAPH3_uc001vhw.1_Silent_p.P44P|DIAPH3_uc010aed.1_Silent_p.P44P|DIAPH3_uc010aee.1_Silent_p.P44P	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	44					actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TGGGCGGCGGAGGGTGTTGGG	0.711													G	60737769	A	G	60737769	2	3	12	1	0	0	0	0	0	0	0	1	4520	291	11	3		3	DIAPH3	13	60737769	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	324219	60737769	54432109	908	10916											
PCDH9	5101	broad.mit.edu	37	chr13	67802393	67802393	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagtctgtagacaaggctGgcgctggtccctgtggcagc	14	12	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:67802393G>A	uc001vik.2	-	2	872	c.180C>T	c.(178-180)GCC>GCT	p.A60A	PCDH9_uc001vil.2_Silent_p.A60A|PCDH9_uc010thl.1_Silent_p.A60A|PCDH9_uc001vin.3_Silent_p.A60A	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	60	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGACAAGGCTGGCGCTGGTCC	0.458													A	67802393	G	A	67802393	2	1	12	1	0	0	0	0	0	0	0	1	11518	1335	47	4		4	PCDH9	13	67802393	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	7064624	67802393	47367485	909	10917											
C13orf34	79866	broad.mit.edu	37	chr13	73327858	73327858	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctataatacgcagaattgtGgaagcaatattatggataca	9	5	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:73327858G>T	uc001viv.1	+	11	1632	c.1513G>T	c.(1513-1515)GGA>TGA	p.G505*	C13orf34_uc010aen.1_Nonsense_Mutation_p.G580*|C13orf34_uc010thr.1_Nonsense_Mutation_p.G435*|C13orf34_uc001viw.1_Nonsense_Mutation_p.G454*	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	aurora borealis	505					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding				0		Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.000227)		GCAGAATTGTGGAAGCAATAT	0.318													T	73327858	G	T	73327858	4	4	12	1	0	0	0	0	0	1	0	0	1728	1349	47	5	1551	5	C13orf34	13	73327858	Nonsense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	5525465	73327858	41842020	910	10918											
LMO7	4008	broad.mit.edu	37	chr13	76210812	76210812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggaagggctggaggagGcagaggccaactgctccgtg	17	10	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:76210812G>A	uc001vjt.1	+	1	354	c.19G>A	c.(19-21)GCA>ACA	p.A7T	LMO7_uc010thv.1_Intron	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 1	Error:Variant_position_missing_in_Q8WWI1_after_alignment						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GCTGGAGGAGGCAGAGGCCAA	0.662													A	76210812	G	A	76210812	3	1	12	1	0	0	0	0	1	0	0	0	8855	1218	42	2		2	LMO7	13	76210812	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2882954	76210812	38959066	911	10919											
MYCBP2	23077	broad.mit.edu	37	chr13	77657276	77657276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaggatgagcagcttcccCggcaatcactatgtctgaga	10	10	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:77657276C>T	uc001vkf.2	-	64	10904	c.10813G>A	c.(10813-10815)GGG>AGG	p.G3605R	MYCBP2_uc010aev.2_Missense_Mutation_p.G3009R|MYCBP2_uc001vke.2_Missense_Mutation_p.G225R	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCAGCTTCCCCGGCAATCACT	0.453													T	77657276	C	T	77657276	3	4	12	1	0	0	0	0	1	0	0	0	10018	652	23	1	3193	1	MYCBP2	13	77657276	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1446464	77657276	37512602	912	10920											
SLITRK6	84189	broad.mit.edu	37	chr13	86370288	86370288	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttctaaagaattgtgattgAtatgaagttgtttcaggagg	11	2	2	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:86370288A>T	uc001vll.1	-	2	815	c.356T>A	c.(355-357)ATC>AAC	p.I119N	SLITRK6_uc010afe.1_5'Flank	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	119	Extracellular (Potential).|LRR 2.					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATTGTGATTGATATGAAGTTG	0.358													T	86370288	A	T	86370288	3	4	12	1	0	0	0	0	1	0	0	0	14747	333	12	5	2173	5	SLITRK6	13	86370288	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	8713012	86370288	28799590	913	10921											
GPC5	2262	broad.mit.edu	37	chr13	93518632	93518632	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagcaggatgtgcagtggcGactgaatctatgacattcac	13	8	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:93518632G>A	uc010tif.1	+	8	2025	c.1659G>A	c.(1657-1659)GCG>GCA	p.A553A		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	553						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GTGCAGTGGCGACTGAATCTA	0.443													A	93518632	G	A	93518632	2	1	12	1	0	0	0	0	0	0	0	1	6601	1045	37	1		1	GPC5	13	93518632	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	7148344	93518632	21651246	914	10922											
TPP2	7174	broad.mit.edu	37	chr13	103257246	103257246	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaaaggatggtgagattgTtggcctttcaggaagagtgc	15	6	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:103257246T>G	uc001vpi.3	+	2	372	c.269T>G	c.(268-270)GTT>GGT	p.V90G		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	90					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGTGAGATTGTTGGCCTTTCA	0.368													G	103257246	T	G	103257246	3	3	12	1	0	0	0	0	1	0	0	0	16409	1725	60	5	275	5	TPP2	13	103257246	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	9738614	103257246	11912632	915	10923											
LIG4	3981	broad.mit.edu	37	chr13	108862142	108862142	+	Frame_Shift_Del	DEL	G	G	-													cagatggcttctcaccaggaGggggcttctctgctactgca							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:108862141_108862141AG>A	uc001vqn.3	-	1	1749	c.1476_1476CT>T	c.(1474-1476)cctfs	p.P492fs	LIG4_uc001vqo.3_Frame_Shift_Del_p.P492fs|LIG4_uc010agf.3_Frame_Shift_Del_p.P492fs|LIG4_uc001vqp.3_Frame_Shift_Del_p.P492fs|LIG4_uc010agg.1_Frame_Shift_Del_p.P425fs|LIG4_uc021rmk.1_Frame_Shift_Del_p.P492fs	NM_002312	NP_996820	P49917	DNLI4_HUMAN	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.	492					DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	p.P492L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TCTCACCAGGAGGGGGCTTCT	0.453								Non-homologous end-joining					-	108862142	G	-	108862142	7	5	12	1	0	1	0	1	0	0	0	0	8783	1000	35	0	1264	0	LIG4	13	108862142	Frame_Shift_Del	DEL	G	TCGA-BR-4257-01A-01D-1126-08	5604896	108862142	6307736	916	10924											
COL4A1	1282	broad.mit.edu	37	chr13	110835372	110835372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccctggaaatccaatgCctggctggcccacagcgccc	13	16	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:110835372C>T	uc001vqw.3	-	28	2185	c.2063G>A	c.(2062-2064)GGC>GAC	p.G688D	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	688	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAATCCAATGCCTGGCTGGCC	0.622													T	110835372	C	T	110835372	3	4	12	1	0	0	0	0	1	0	0	0	3689	739	26	2	3046	2	COL4A1	13	110835372	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1973230	110835372	4334506	917	10925											
COL4A2	1284	broad.mit.edu	37	chr13	111117854	111117854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaggactgggccttcccGgcctcaaaggccaacgtggt	12	16	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:111117854G>A	uc001vqx.2	+	25	2168	c.1879G>A	c.(1879-1881)GGC>AGC	p.G627S		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	627	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGCCTTCCCGGCCTCAAAGG	0.642													A	111117854	G	A	111117854	3	1	12	1	0	0	0	0	1	0	0	0	3690	1116	39	1	1973	1	COL4A2	13	111117854	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	282482	111117854	4052024	918	10926											
ARHGEF7	8874	broad.mit.edu	37	chr13	111926266	111926266	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcgcctggataaatacccTacgctgctcaaagagctcga	9	12	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:111926266T>C	uc001vrs.2	+	11	1492	c.1242T>C	c.(1240-1242)CCT>CCC	p.P414P	ARHGEF7_uc001vrr.2_Silent_p.P393P|ARHGEF7_uc001vrt.2_Silent_p.P364P|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vru.1_Silent_p.P236P|ARHGEF7_uc001vrv.3_Silent_p.P236P|ARHGEF7_uc001vrw.3_Silent_p.P236P|ARHGEF7_uc001vrx.3_Silent_p.P236P|ARHGEF7_uc010tjo.1_Silent_p.P311P|ARHGEF7_uc010tjp.1_Silent_p.P158P|ARHGEF7_uc010agn.1_Silent_p.P158P	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	414	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ATAAATACCCTACGCTGCTCA	0.532													C	111926266	T	C	111926266	2	2	12	1	0	0	0	0	0	0	0	1	911	1509	53	3		3	ARHGEF7	13	111926266	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	808412	111926266	3243612	919	10927											
GAS6	2621	broad.mit.edu	37	chr13	114526521	114526521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgacgtccagaggggtccGcactgcaatgaaagcggtgc	14	13	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:114526521G>A	uc001vud.2	-	13	1633	c.1480C>T	c.(1480-1482)CGG>TGG	p.R494W	GAS6_uc001vug.2_Missense_Mutation_p.R195W|GAS6_uc001vuf.2_Missense_Mutation_p.R221W	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	537	Laminin G-like 2.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				AGAGGGGTCCGCACTGCAATG	0.622													A	114526521	G	A	114526521	3	1	12	1	0	0	0	0	1	0	0	0	6249	1086	38	1	568	1	GAS6	13	114526521	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2600255	114526521	643357	920	10928											
TEP1	7011	broad.mit.edu	37	chr14	20853225	20853225	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccggttcaggaactgcatcAcctccatctctgtcacagag	8	14	4	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:20853225A>G	uc001vxe.2	-	21	3066	c.3026T>C	c.(3025-3027)GTG>GCG	p.V1009A	TEP1_uc010ahk.2_Missense_Mutation_p.V359A|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.V901A|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1009					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GAACTGCATCACCTCCATCTC	0.577													G	20853225	A	G	20853225	3	3	12	1	0	0	0	0	1	0	0	0	15756	159	6	3	4997	3	TEP1	14	20853225	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08		20853225	86496315	921	10929											
SALL2	6297	broad.mit.edu	37	chr14	21993076	21993076	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttctgcccctgaagaggaAgaggaggaggaggaggaaga	18	5	1	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:21993076A>G	uc001wbe.2	-	2	1068	c.786T>C	c.(784-786)TCT>TCC	p.S262S	SALL2_uc010tly.1_Silent_p.S260S|SALL2_uc010tlz.1_Intron|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Intron|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	sal-like 2	262	Poly-Ser.						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|large_intestine(1)	3	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTgaagaggaagaggaggagg	0.512													G	21993076	A	G	21993076	2	3	12	1	0	0	0	0	0	0	0	1	13811	59	3	3		3	SALL2	14	21993076	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1139851	21993076	85356464	922	10930											
RBM23	55147	broad.mit.edu	37	chr14	23374162	23374162	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaacccacatagaggcgcatTggtccaccattgcccttttg	9	13	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:23374162T>A	uc001whg.2	-	9	985	c.786A>T	c.(784-786)CCA>CCT	p.P262P	RBM23_uc001whh.2_Silent_p.P246P|RBM23_uc001whi.2_Silent_p.P228P|RBM23_uc010tne.1_Silent_p.P92P|RBM23_uc001whj.2_Silent_p.P12P|RBM23_uc001whk.1_Silent_p.P262P	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	RNA binding motif protein 23 isoform 1	262					mRNA processing	nucleus	nucleotide binding|RNA binding			skin(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		AGAGGCGCATTGGTCCACCAT	0.517													A	23374162	T	A	23374162	2	1	12	1	0	0	0	0	0	0	0	1	13123	1799	63	5		5	RBM23	14	23374162	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1381086	23374162	83975378	923	10931											
MYH7	4625	broad.mit.edu	37	chr14	23902741	23902741	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacatcagcctgacacccacCttgccatactcggtctcggc	7	18	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:23902741C>A	uc001wjx.2	-	3	307	c.201G>T	c.(199-201)AAG>AAT	p.K67N		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	67	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGACACCCACCTTGCCATACT	0.572													A	23902741	C	A	23902741	3	1	12	1	0	0	0	0	1	0	0	0	10039	695	24	5	5758	5	MYH7	14	23902741	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	528579	23902741	83446799	924	10932											
PCK2	5106	broad.mit.edu	37	chr14	24572963	24572963	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggacagtgcccgagagacAcccattgggctggtgccaaa	14	11	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:24572963A>G	uc001wlt.2	+	10	1845	c.1713A>G	c.(1711-1713)ACA>ACG	p.T571T	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Intron|PCK2_uc010tnw.1_Silent_p.T437T|PCK2_uc010tnx.1_Silent_p.T437T|PCK2_uc001wlu.3_Silent_p.T405T	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	571					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)		CCCGAGAGACACCCATTGGGC	0.607													G	24572963	A	G	24572963	2	3	12	1	0	0	0	0	0	0	0	1	11582	146	6	3		3	PCK2	14	24572963	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	670222	24572963	82776577	925	10933											
FOXG1	2290	broad.mit.edu	37	chr14	29237047	29237047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgccgttcagctacaacGcgctcatcatgatggccatc	9	15	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:29237047G>A	uc001wqe.2	+	1	761	c.562G>A	c.(562-564)GCG>ACG	p.A188T		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	188	Fork-head.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CAGCTACAACGCGCTCATCAT	0.383													A	29237047	G	A	29237047	3	1	12	1	0	0	0	0	1	0	0	0	6007	1087	38	1	564	1	FOXG1	14	29237047	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	4664084	29237047	78112493	926	10934											
PPP2R3C	55012	broad.mit.edu	37	chr14	35564337	35564337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgttccatagcgtgagaGttcttctttactgagcatgc	10	9	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:35564337G>A	uc001wss.2	-	10	1246	c.892C>T	c.(892-894)CTC>TTC	p.L298F	PPP2R3C_uc001wst.2_Missense_Mutation_p.L182F|PPP2R3C_uc010tpr.1_Missense_Mutation_p.L182F|PPP2R3C_uc001wsu.2_Intron	NM_017917	NP_060387	Q969Q6	P2R3C_HUMAN	serine/threonine-protein phosphatase 2A	298	EF-hand 1.					centrosome|nucleus	calcium ion binding			ovary(1)	1	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		TAGCGTGAGAGTTCTTCTTTA	0.373													A	35564337	G	A	35564337	3	1	12	1	0	0	0	0	1	0	0	0	12390	1029	36	4	485	4	PPP2R3C	14	35564337	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	6327290	35564337	71785203	927	10935											
SSTR1	6751	broad.mit.edu	37	chr14	38678777	38678777	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagggcagcgccatcctgatCtctttcatctactccgtggt	9	14	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:38678777C>A	uc001wul.1	+	3	800	c.183C>A	c.(181-183)ATC>ATA	p.I61I	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	61	Helical; Name=1; (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			central_nervous_system(3)|ovary(1)|lung(1)	5	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CCATCCTGATCTCTTTCATCT	0.637													A	38678777	C	A	38678777	2	1	12	1	0	0	0	0	0	0	0	1	15196	903	32	5		5	SSTR1	14	38678777	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3114440	38678777	68670763	928	10936											
L2HGDH	79944	broad.mit.edu	37	chr14	50769634	50769634	+	Frame_Shift_Del	DEL	T	T	-													acatacctaaatctttctccTtttccagaacaccaatagaa							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:50769633_50769633CT>C	uc001wxu.3	-	1	322	c.243_243AG>G	c.(241-243)aagfs	p.K81fs	L2HGDH_uc010tqn.2_Frame_Shift_Del_p.K81fs|L2HGDH_uc010tqo.1_Frame_Shift_Del_p.K81fs	NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN	Homo sapiens L-2-hydroxyglutarate dehydrogenase (L2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	81			K -> E (in L2HGA; alters protein processing and abolishes catalytic activity).		2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					AATCTTTCTCCTTTTCCAGAA	0.423													-	50769634	T	-	50769634	7	5	12	1	0	1	0	1	0	0	0	0	8590	1609	56	0	1185	0	L2HGDH	14	50769634	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	12090857	50769634	56579906	929	10937											
CDKL1	8814	broad.mit.edu	37	chr14	50846843	50846843	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcacattggttctatgacCtgtgaagtaagagccaatat	8	9	2	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:50846843C>A	uc010anu.1	-	8	1078	c.1078G>T	c.(1078-1080)GGT>TGT	p.G360C	CDKL1_uc001wxz.2_Intron	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1	Error:Variant_position_missing_in_Q00532_after_alignment						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(1)|stomach(1)	2	all_epithelial(31;0.000746)|Breast(41;0.0102)					gttctatgacctgtgaagtaa	0													A	50846843	C	A	50846843	3	1	12	1	0	0	0	0	1	0	0	0	3153	696	24	5		5	CDKL1	14	50846843	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	77209	50846843	56502697	930	10938											
NIN	51199	broad.mit.edu	37	chr14	51192775	51192775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgacagttaccagttgttCctggtttccctgaagggaag	11	9	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:51192775C>T	uc001wym.2	-	30	6279	c.6088G>A	c.(6088-6090)GAA>AAA	p.E2030K	NIN_uc001wyi.2_Missense_Mutation_p.E2030K|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.E1317K|NIN_uc010tqp.1_Missense_Mutation_p.E2036K	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	2030	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					ACCAGTTGTTCCTGGTTTCCC	0.393			T	PDGFRB	MPD								T	51192775	C	T	51192775	3	4	12	1	0	0	0	0	1	0	0	0	10417	864	30	4	402	4	NIN	14	51192775	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	345932	51192775	56156765	931	10939											
NIN	51199	broad.mit.edu	37	chr14	51219236	51219236	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtggctacaggccatacCtgcactttacaacgttccag	9	13	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:51219236C>T	uc001wym.2	-	21	5141	c.4950G>A	c.(4948-4950)CAG>CAA	p.Q1650Q	NIN_uc001wyi.2_Silent_p.Q1650Q|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Silent_p.Q937Q|NIN_uc010tqp.1_Silent_p.Q1656Q|NIN_uc001wyo.2_Silent_p.Q1650Q	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1650	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					CAGGCCATACCTGCACTTTAC	0.368			T	PDGFRB	MPD								T	51219236	C	T	51219236	2	4	12	1	0	0	0	0	0	0	0	1	10417	695	24	4		4	NIN	14	51219236	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	26461	51219236	56130304	932	10940											
TRIM9	114088	broad.mit.edu	37	chr14	51561483	51561483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggtccagatagtcatagtCggagaccccggagcccgcgg	14	13	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:51561483C>T	uc001wyx.3	-	1	940	c.175G>A	c.(175-177)GAC>AAC	p.D59N	TRIM9_uc001wyy.2_Missense_Mutation_p.D59N|TRIM9_uc001wyz.3_Missense_Mutation_p.D59N	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	59					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					TAGTCATAGTCGGAGACCCCG	0.642													T	51561483	C	T	51561483	3	4	12	1	0	0	0	0	1	0	0	0	16546	884	31	1	2047	1	TRIM9	14	51561483	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	342247	51561483	55788057	933	10941											
C14orf166	51637	broad.mit.edu	37	chr14	52466489	52466489	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcttcagattcagcgtcAtgatgattacctggtaatgc	9	10	3	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:52466489A>G	uc010aod.2	+	5	567	c.437A>G	c.(436-438)CAT>CGT	p.H146R	C14orf166_uc001wzm.3_Missense_Mutation_p.H12R|C14orf166_uc001wzn.3_Missense_Mutation_p.H12R	NM_016039	NP_057123	Q9Y224	CN166_HUMAN	homeobox prox 1	146						microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding				0	Breast(41;0.0639)|all_epithelial(31;0.101)					ATTCAGCGTCATGATGATTAC	0.333													G	52466489	A	G	52466489	3	3	12	1	0	0	0	0	1	0	0	0	1756	217	8	3	455	3	C14orf166	14	52466489	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	905006	52466489	54883051	934	10942											
BMP4	652	broad.mit.edu	37	chr14	54417278	54417278	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtcacctcaatggctagCccatagtttggctgcttctc	9	12	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:54417278C>T	uc001xal.3	-	3	886	c.699G>A	c.(697-699)GGG>GGA	p.G233G	BMP4_uc010aoh.2_Silent_p.G233G|BMP4_uc001xao.3_Silent_p.G233G|BMP4_uc001xan.3_Silent_p.G233G	NM_130851	NP_570912	P12644	BMP4_HUMAN	bone morphogenetic protein 4 preproprotein	233					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity				0						CAATGGCTAGCCCATAGTTTG	0.577													T	54417278	C	T	54417278	2	4	12	1	0	0	0	0	0	0	0	1	1462	726	26	2		2	BMP4	14	54417278	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1950789	54417278	52932262	935	10943											
BMP4	652	broad.mit.edu	37	chr14	54418933	54418933	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatcagcattcggttaccaGgaatcatggtgtctctgggg	12	10	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:54418933G>T	uc001xal.3	-	2	195	c.8C>A	c.(7-9)CCT>CAT	p.P3H	BMP4_uc010aoh.2_Missense_Mutation_p.P3H|BMP4_uc001xao.3_Missense_Mutation_p.P3H|BMP4_uc001xan.3_Missense_Mutation_p.P3H	NM_130851	NP_570912	P12644	BMP4_HUMAN	bone morphogenetic protein 4 preproprotein	3					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity				0						TCGGTTACCAGGAATCATGGT	0.463													T	54418933	G	T	54418933	3	4	12	1	0	0	0	0	1	0	0	0	1462	1000	35	5	1226	5	BMP4	14	54418933	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1655	54418933	52930607	936	10944											
C14orf105	55195	broad.mit.edu	37	chr14	57960431	57960431	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcttagagtgactcaggccCatttcatgtgaaagacattc	9	9	3	4	rs117025852	by1000genomes	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:57960431C>A	uc001xcy.2	-	1	146	c.3G>T	c.(1-3)ATG>ATT	p.M1I	C14orf105_uc010trl.1_Missense_Mutation_p.M1I|C14orf105_uc010trm.1_5'UTR|C14orf105_uc010trn.1_5'UTR|C14orf105_uc001xcz.2_Missense_Mutation_p.M1I|C14orf105_uc010aox.1_RNA|C14orf105_uc010aoy.1_5'UTR	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	hypothetical protein LOC55195	1											0						GACTCAGGCCCATTTCATGTG	0.443													A	57960431	C	A	57960431	3	1	12	1	0	0	0	0	1	0	0	0	1737	594	21	5	911	5	C14orf105	14	57960431	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3541498	57960431	49389109	937	10945											
C14orf135	64430	broad.mit.edu	37	chr14	60591468	60591468	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggatcagtagaatcacAgagggttggtgatcattcta	11	7	4	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:60591468A>G	uc001xer.3	+	8	2399	c.1877A>G	c.(1876-1878)CAG>CGG	p.Q626R	C14orf135_uc001xeq.2_Missense_Mutation_p.Q626R|C14orf135_uc010apm.2_RNA	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	860						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		GTAGAATCACAGAGGGTTGGT	0.373													G	60591468	A	G	60591468	3	3	12	1	0	0	0	0	1	0	0	0	1745	188	7	3	1903	3	C14orf135	14	60591468	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2631037	60591468	46758072	938	10946											
PRKCH	5583	broad.mit.edu	37	chr14	62016477	62016477	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttttaactccaattgatgaGggacatcttccaatgattaa	7	7	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:62016477G>T	uc001xfn.2	+	14	2285	c.1980G>T	c.(1978-1980)GAG>GAT	p.E660D	PRKCH_uc010tsa.1_Missense_Mutation_p.E499D|PRKCH_uc010tsb.1_Missense_Mutation_p.E228D|PRKCH_uc001xfo.2_RNA	NM_006255	NP_006246	P24723	KPCL_HUMAN	protein kinase C, eta	660	AGC-kinase C-terminal.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CAATTGATGAGGGACATCTTC	0.418													T	62016477	G	T	62016477	3	4	12	1	0	0	0	0	1	0	0	0	12513	991	35	5	2034	5	PRKCH	14	62016477	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1425009	62016477	45333063	939	10947											
PPP2R5E	5529	broad.mit.edu	37	chr14	63863413	63863413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcccgttcccgagggtcttCgctgtcaaatagctccagaa	10	13	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:63863413C>T	uc001xgd.1	-	6	1161	c.571G>A	c.(571-573)GAA>AAA	p.E191K	PPP2R5E_uc010tsf.1_Missense_Mutation_p.E115K|PPP2R5E_uc010tsg.1_Missense_Mutation_p.E115K|PPP2R5E_uc001xge.2_Missense_Mutation_p.E191K|PPP2R5E_uc010tsh.1_Missense_Mutation_p.E191K|PPP2R5E_uc001xgf.1_RNA	NM_006246	NP_006237	Q16537	2A5E_HUMAN	epsilon isoform of regulatory subunit B56,	191					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CGAGGGTCTTCGCTGTCAAAT	0.368													T	63863413	C	T	63863413	3	4	12	1	0	0	0	0	1	0	0	0	12396	893	31	1	868	1	PPP2R5E	14	63863413	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1846936	63863413	43486127	940	10948											
ESR2	2100	broad.mit.edu	37	chr14	64746715	64746715	+	Frame_Shift_Del	DEL	A	A	-													gtaccttgaatgcttcttttAaaaaaggccttacatccttc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:64746714_64746714TA>T	uc001xha.1	-	2	988	c.520_520TA>A	c.(520-522)aaafs	p.K174fs	ESR2_uc001xgy.2_Frame_Shift_Del_p.K174fs|ESR2_uc001xgu.3_Frame_Shift_Del_p.K174fs|ESR2_uc001xgv.3_Frame_Shift_Del_p.K174fs|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Frame_Shift_Del_p.K174fs|ESR2_uc010aqb.1_Intron|ESR2_uc010aqc.1_Frame_Shift_Del_p.K174fs|ESR2_uc001xgz.2_Frame_Shift_Del_p.K174fs	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	174					cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ATGCTTCTTTTAAAAAAGGCC	0.413													-	64746715	A	-	64746715	7	5	12	1	0	1	0	1	0	0	0	0	5257	359	13	0	1187	0	ESR2	14	64746715	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	883302	64746715	42602825	941	10949											
ZBTB25	7597	broad.mit.edu	37	chr14	64953932	64953933	+	Frame_Shift_Del	DEL	AC	AC	-													ttccttgaaaaagaaaaattAcagtttaattctactggctc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:64953931_64953932TAC>T	uc001xhf.3	-	2	1200_1201	c.1017_1018GTA>A	c.(1015-1020)tgtaatfs	p.C339fs	ZBTB25_uc001xhc.3_Intron|ZBTB25_uc001xhg.3_Frame_Shift_Del_p.C339fs	NM_006977	NP_008908	P24278	ZBT25_HUMAN	Homo sapiens zinc finger and BTB domain containing 25 (ZBTB25), mRNA.	339						cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		AAAGAAAAATTACAGTTTAATT	0.416													-	64953933	AC	-	64953932	7	5	12	1	0	1	0	1	0	0	0	0	17529	389	14	0	294	0	ZBTB25	14	64953932	Frame_Shift_Del	DEL	AC	TCGA-BR-4257-01A-01D-1126-08	207217	64953932	42395608	942	10950											
TMEM229B	161145	broad.mit.edu	37	chr14	67940214	67940214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcgtccttgtcgaagcGgaggcggagggtgttgcgga	18	9	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:67940214G>A	uc001xjk.2	-	3	837	c.427C>T	c.(427-429)CGC>TGC	p.R143C	TMEM229B_uc001xjj.1_RNA	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	143	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(1)	1						TTGTCGAAGCGGAGGCGGAGG	0.657													A	67940214	G	A	67940214	3	1	12	1	0	0	0	0	1	0	0	0	16145	1116	39	1	80	1	TMEM229B	14	67940214	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2986282	67940214	39409326	943	10951											
PCNX	22990	broad.mit.edu	37	chr14	71455319	71455319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggcagtgtcatttcgcCgtgaacgcagcacatttagg	13	9	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:71455319C>T	uc001xmo.2	+	7	2793	c.2347C>T	c.(2347-2349)CGT>TGT	p.R783C	PCNX_uc001xmn.3_Missense_Mutation_p.R783C|PCNX_uc010are.1_Intron	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	783						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTCATTTCGCCGTGAACGCAG	0.547													T	71455319	C	T	71455319	3	4	12	1	0	0	0	0	1	0	0	0	11591	652	23	1	2373	1	PCNX	14	71455319	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3515105	71455319	35894221	944	10952											
SIPA1L1	26037	broad.mit.edu	37	chr14	72055785	72055785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattccaaaggaagcctcaGcatggaccagggagatgata	12	8	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:72055785G>A	uc001xms.2	+	2	1544	c.1196G>A	c.(1195-1197)AGC>AAC	p.S399N	SIPA1L1_uc001xmt.2_Missense_Mutation_p.S399N|SIPA1L1_uc001xmu.2_Missense_Mutation_p.S399N|SIPA1L1_uc001xmv.2_Missense_Mutation_p.S399N	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	399					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGAAGCCTCAGCATGGACCAG	0.498													A	72055785	G	A	72055785	3	1	12	1	0	0	0	0	1	0	0	0	14329	971	34	2	1198	2	SIPA1L1	14	72055785	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	600466	72055785	35293755	945	10953											
RBM25	58517	broad.mit.edu	37	chr14	73566386	73566386	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttaggaggatataaaTgctatagaaatggaagaaga	10	2	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:73566386T>A	uc001xno.2	+	9	1003	c.795T>A	c.(793-795)AAT>AAA	p.N265K	RBM25_uc001xnn.3_Missense_Mutation_p.N265K|RBM25_uc010ttu.1_Missense_Mutation_p.N265K|RBM25_uc001xnp.2_Missense_Mutation_p.N60K	NM_021239	NP_067062	P49756	RBM25_HUMAN	RNA binding motif protein 25	265					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AGGATATAAATGCTATAGAAA	0.358													A	73566386	T	A	73566386	3	1	12	1	0	0	0	0	1	0	0	0	13125	1461	51	5	825	5	RBM25	14	73566386	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1510601	73566386	33783154	946	10954											
C14orf43	91748	broad.mit.edu	37	chr14	74203800	74203800	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgttcaggacccttcccGtcctcatcaagacctccagc	6	17	4	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:74203800G>A	uc001xot.2	-	3	2433	c.1650C>T	c.(1648-1650)GAC>GAT	p.D550D	C14orf43_uc001xou.2_Silent_p.D550D|C14orf43_uc010tud.1_Silent_p.D550D|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GACCCTTCCCGTCCTCATCAA	0.602													A	74203800	G	A	74203800	2	1	12	1	0	0	0	0	0	0	0	1	1774	1136	40	1		1	C14orf43	14	74203800	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	637414	74203800	33145740	947	10955											
KIAA0317	9870	broad.mit.edu	37	chr14	75139565	75139565	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcatgtctgctgaccttcAgggtgactttggaatgtggt	14	7	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:75139565A>G	uc001xqb.2	-	11	1896	c.1391T>C	c.(1390-1392)CTG>CCG	p.L464P	KIAA0317_uc010tut.1_Missense_Mutation_p.L303P|KIAA0317_uc001xqc.2_Missense_Mutation_p.L464P	NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	464					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)		GCTGACCTTCAGGGTGACTTT	0.448													G	75139565	A	G	75139565	3	3	12	1	0	0	0	0	1	0	0	0	8167	188	7	3	1120	3	KIAA0317	14	75139565	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	935765	75139565	32209975	948	10956											
FLRT2	23768	broad.mit.edu	37	chr14	86087980	86087980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgccctagtgtgtgccGctgcgacaggaactttgtct	13	12	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:86087980G>A	uc001xvr.2	+	2	889	c.122G>A	c.(121-123)CGC>CAC	p.R41H	FLRT2_uc010atd.2_Missense_Mutation_p.R41H	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	41	Extracellular (Potential).|LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGTGTGTGCCGCTGCGACAGG	0.542													A	86087980	G	A	86087980	3	1	12	1	0	0	0	0	1	0	0	0	5939	1087	38	1	124	1	FLRT2	14	86087980	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	10948415	86087980	21261560	949	10957											
CCDC88C	440193	broad.mit.edu	37	chr14	91780228	91780228	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttcctggccagcctcccGttctcctcctggagtcgctg	9	18	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:91780228G>A	uc010aty.2	-	15	2031	c.1932C>T	c.(1930-1932)AAC>AAT	p.N644N		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	644	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				CCAGCCTCCCGTTCTCCTCCT	0.642													A	91780228	G	A	91780228	2	1	12	1	0	0	0	0	0	0	0	1	2865	1136	40	1		1	CCDC88C	14	91780228	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	5692248	91780228	15569312	950	10958											
FBLN5	10516	broad.mit.edu	37	chr14	92406952	92406952	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggtcaaagccattcgtGcactgtgcctgcagggaagg	13	11	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:92406952G>A	uc001xzx.3	-	3	554	c.81C>T	c.(79-81)TGC>TGT	p.C27C	FBLN5_uc010aud.2_Silent_p.C32C|FBLN5_uc010aue.2_Silent_p.C27C	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	fibulin 5 precursor	27					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		all_cancers(154;0.0722)				AGCCATTCGTGCACTGTGCCT	0.507													A	92406952	G	A	92406952	2	1	12	1	0	0	0	0	0	0	0	1	5700	1311	46	2		2	FBLN5	14	92406952	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	626724	92406952	14942588	951	10959											
LGMN	5641	broad.mit.edu	37	chr14	93176196	93176196	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcataccctgaaactgcaTcactttcatggtggagattg	8	9	3	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:93176196T>G	uc001yav.2	-	12	1167	c.841A>C	c.(841-843)ATG>CTG	p.M281L	LGMN_uc001yat.2_Missense_Mutation_p.M281L|LGMN_uc001yau.2_Missense_Mutation_p.M281L|LGMN_uc001yaw.2_Missense_Mutation_p.M281L|LGMN_uc010aul.2_Missense_Mutation_p.M162L|LGMN_uc001yax.2_Missense_Mutation_p.M281L|LGMN_uc001yay.2_Missense_Mutation_p.M281L	NM_001008530	NP_001008530	Q99538	LGMN_HUMAN	legumain preproprotein	281					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			skin(1)	1		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TGAAACTGCATCACTTTCATG	0.383													G	93176196	T	G	93176196	3	3	12	1	0	0	0	0	1	0	0	0	8755	1435	50	5	476	5	LGMN	14	93176196	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	769244	93176196	14173344	952	10960											
SERPINA6	866	broad.mit.edu	37	chr14	94780499	94780499	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctgctggctgttgcccAgtcctggaaattcatagcca	10	12	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:94780499A>G	uc001ycv.2	-	2	591	c.487T>C	c.(487-489)TGG>CGG	p.W163R	SERPINA6_uc010auv.2_RNA	NM_001756	NP_001747	P08185	CBG_HUMAN	corticosteroid binding globulin precursor	163					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			skin(3)|ovary(1)|central_nervous_system(1)	5		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GCTGTTGCCCAGTCCTGGAAA	0.488													G	94780499	A	G	94780499	3	3	12	1	0	0	0	0	1	0	0	0	14093	188	7	3	746	3	SERPINA6	14	94780499	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1604303	94780499	12569041	953	10961											
SETD3	84193	broad.mit.edu	37	chr14	99871571	99871571	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggcacgagccaagacctcGgccttcatggcgtagagtct	12	14	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:99871571G>T	uc001ygc.2	-	10	1232	c.1062C>A	c.(1060-1062)GCC>GCA	p.A354A		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	SET domain containing 3 isoform a	354					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity				0		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CCAAGACCTCGGCCTTCATGG	0.443													T	99871571	G	T	99871571	2	4	12	1	0	0	0	0	0	0	0	1	14132	1103	39	5		5	SETD3	14	99871571	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	5091072	99871571	7477969	954	10962											
RAGE	5891	broad.mit.edu	37	chr14	102695911	102695911	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgacagtctgaccactccCgaaagctttagtttgggcag	11	11	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:102695911C>T	uc001ylm.2	-	11	1291	c.1065G>A	c.(1063-1065)TCG>TCA	p.S355S	RAGE_uc010txv.1_Silent_p.S325S|RAGE_uc001yln.2_Silent_p.S173S|RAGE_uc001ylh.2_Intron|RAGE_uc001yli.2_RNA|RAGE_uc001yll.2_RNA|RAGE_uc001ylj.2_RNA|RAGE_uc001ylk.2_RNA	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN	MAPK/MAK/MRK overlapping kinase	355					signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						TGACCACTCCCGAAAGCTTTA	0.537													T	102695911	C	T	102695911	2	4	12	1	0	0	0	0	0	0	0	1	13006	639	23	1		1	RAGE	14	102695911	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2824340	102695911	4653629	955	10963											
TNFAIP2	7127	broad.mit.edu	37	chr14	103601572	103601572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaaaggccacctgagcGctatcctggccatcaagggg	12	14	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:103601572G>A	uc001ymm.1	+	11	1971	c.1840G>A	c.(1840-1842)GCT>ACT	p.A614T	TNFAIP2_uc010awo.1_Missense_Mutation_p.A274T|TNFAIP2_uc010txz.1_Missense_Mutation_p.A283T|TNFAIP2_uc010tya.1_Missense_Mutation_p.A97T	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	614					angiogenesis|cell differentiation	extracellular space				central_nervous_system(1)	1		Melanoma(154;0.155)	Epithelial(46;0.191)			CCACCTGAGCGCTATCCTGGC	0.637													A	103601572	G	A	103601572	3	1	12	1	0	0	0	0	1	0	0	0	16270	1087	38	1	1882	1	TNFAIP2	14	103601572	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	905661	103601572	3747968	956	10964											
TDRD9	122402	broad.mit.edu	37	chr14	104482383	104482383	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccggatgaggagatggcGgtgagggagctggctggcaa	20	7	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:104482383G>A	uc001yom.3	+	22	2319	c.2289G>A	c.(2287-2289)GCG>GCA	p.A763A	TDRD9_uc001yon.3_Silent_p.A501A	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	763					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.A478A(1)		ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AGGAGATGGCGGTGAGGGAGC	0.498													A	104482383	G	A	104482383	2	1	12	1	0	0	0	0	0	0	0	1	15733	1103	39	1		1	TDRD9	14	104482383	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	880811	104482383	2867157	957	10965											
KIAA0284	283638	broad.mit.edu	37	chr14	105353063	105353063	+	Frame_Shift_Del	DEL	C	C	-													gggcagacagcccagcccagCcccccagcacgggatggcgt							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:105353063delC	uc010axb.2	+	12	2711	c.2487delC	c.(2485-2487)AGCfs	p.S829fs	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Frame_Shift_Del_p.S759fs|KIAA0284_uc001yps.2_Frame_Shift_Del_p.S735fs|KIAA0284_uc001ypt.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	829						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CCCAGCCCAGCCCCCCAGCAC	0.637													-	105353063	C	-	105353063	7	5	12	1	0	1	0	1	0	0	0	0	8166	738	26	0	2529	0	KIAA0284	14	105353063	Frame_Shift_Del	DEL	C	TCGA-BR-4257-01A-01D-1126-08	870680	105353063	1996477	958	10966											
PACS2	23241	broad.mit.edu	37	chr14	105833659	105833659	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcctccctgtccagccagcCcattgaccacgaagacagca	8	18	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:105833659C>A	uc001yqt.2	+	5	708	c.533C>A	c.(532-534)CCC>CAC	p.P178H	PACS2_uc001yqs.2_Missense_Mutation_p.P111H|PACS2_uc001yqv.2_Missense_Mutation_p.P178H|PACS2_uc001yqu.2_Missense_Mutation_p.P178H	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	178					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TCCAGCCAGCCCATTGACCAC	0.677													A	105833659	C	A	105833659	3	1	12	1	0	0	0	0	1	0	0	0	11373	623	22	5	551	5	PACS2	14	105833659	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	480596	105833659	1515881	959	10967											
ATP10A	57194	broad.mit.edu	37	chr15	25953366	25953366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttggcgatgcacaaggtgCgcaggccttccgccgcatac	12	14	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:25953366C>T	uc010ayu.2	-	11	2532	c.2426G>A	c.(2425-2427)CGC>CAC	p.R809H		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	809	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCACAAGGTGCGCAGGCCTTC	0.582													T	25953366	C	T	25953366	3	4	12	1	0	0	0	0	1	0	0	0	1116	768	27	1	2117	1	ATP10A	15	25953366	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08		25953366	76578026	960	10968											
HERC2	8924	broad.mit.edu	37	chr15	28421604	28421604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactccagacttggtgagcGccagggagaactgagctcca	12	13	0	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:28421604G>A	uc001zbj.2	-	63	9762	c.9656C>T	c.(9655-9657)GCG>GTG	p.A3219V		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3219	RCC1 10.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTGGTGAGCGCCAGGGAGAA	0.577													A	28421604	G	A	28421604	3	1	12	1	0	0	0	0	1	0	0	0	7058	1087	38	1	4972	1	HERC2	15	28421604	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2468238	28421604	74109788	961	10969											
HERC2	8924	broad.mit.edu	37	chr15	28443624	28443626	+	In_Frame_Del	DEL	AGA	AGA	-													ttatcaccaatcttgatgtgAgaagaagaacttggtggagg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:28443623_28443625GAGA>G	uc001zbj.3	-	49	8016_8018	c.7910_7912TCTC>C	c.(7909-7914)tctcac>tCac	p.H2638del	HERC2_uc001zbk.1_In_Frame_Del_p.H173del	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2638					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.S2637delS(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATCTTGATGTGAGAAGAAGAACT	0.389													-	28443626	AGA	-	28443624	7	5	12	1	0	1	0	1	0	0	0	0	7058	291	11	0	6769	0	HERC2	15	28443624	In_Frame_Del	DEL	AGA	TCGA-BR-4257-01A-01D-1126-08	22020	28443624	74087768	962	10970											
OTUD7A	161725	broad.mit.edu	37	chr15	31819407	31819407	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttattctgctgcgtctgctGccacctccacctccgcttca	6	18	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:31819407G>A	uc001zfq.2	-	5	850	c.757C>T	c.(757-759)CAG>TAG	p.Q253*	OTUD7A_uc001zfr.2_Nonsense_Mutation_p.Q253*	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	253	OTU.|Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TGCGTCTGCTGCCACCTCCAC	0.617													A	31819407	G	A	31819407	4	1	12	1	0	0	0	0	0	1	0	0	11318	1328	46	2	2051	2	OTUD7A	15	31819407	Nonsense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	3375783	31819407	70711985	963	10971											
AVEN	57099	broad.mit.edu	37	chr15	34159951	34159951	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agatttcagctcaaagatggGcccccttcctccaggcccca	8	16	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:34159951G>C	uc001zhj.2	-	5	774	c.718C>G	c.(718-720)CCC>GCC	p.P240A		NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN	cell death regulator aven	240					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			kidney(1)	1		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		TCAAAGATGGGCCCCCTTCCT	0.542													C	34159951	G	C	34159951	3	2	12	1	0	0	0	0	1	0	0	0	1226	1203	42	5	378	5	AVEN	15	34159951	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2340544	34159951	68371441	964	10972											
C15orf55	256646	broad.mit.edu	37	chr15	34648763	34648763	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccaaagaaaatcaagaaCagagctgtgaaaccgtaggg	12	7	1	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:34648763C>T	uc001zif.2	+	7	2625	c.2470C>T	c.(2470-2472)CAG>TAG	p.Q824*	C15orf55_uc010ucc.1_Nonsense_Mutation_p.Q852*|C15orf55_uc010ucd.1_Nonsense_Mutation_p.Q842*	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	824						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		AAATCAAGAACAGAGCTGTGA	0.512			T	BRD3|BRD4	lethal midline carcinoma								T	34648763	C	T	34648763	4	4	12	1	0	0	0	0	0	1	0	0	1803	479	17	4	2496	4	C15orf55	15	34648763	Nonsense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	488812	34648763	67882629	965	10973											
EIF2AK4	440275	broad.mit.edu	37	chr15	40326639	40326639	+	Frame_Shift_Del	DEL	A	A	-													aatttataacatcaaagtagAaaaaaagtaagttatcactt							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:40326638_40326638GA>G	uc001zkm.1	+	37	4935	c.4885_4885GA>G	c.(4885-4887)gaafs	p.E1629fs	EIF2AK4_uc010bbj.1_Frame_Shift_Del_p.E1330fs|EIF2AK4_uc001zkn.1_Frame_Shift_Del_p.E729fs|EIF2AK4_uc001zko.1_Frame_Shift_Del_p.E510fs|EIF2AK4_uc010bbk.1_Non-coding_Transcript	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	1629					translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CATCAAAGTAGAAAAAAAGTA	0.398													-	40326639	A	-	40326639	7	5	12	1	0	1	0	1	0	0	0	0	4999	246	9	0	5036	0	EIF2AK4	15	40326639	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	5677876	40326639	62204753	966	10974											
BAHD1	22893	broad.mit.edu	37	chr15	40758201	40758201	+	Frame_Shift_Del	DEL	C	C	-													gccgaaagacagcactggttCccccctctgcagactattcc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:40758200_40758200TC>T	uc001zlu.2	+	6	2285	c.2214_2214TC>T	c.(2212-2214)gttfs	p.V738fs	BAHD1_uc001zlt.2_Frame_Shift_Del_p.V737fs|BAHD1_uc010bbp.1_Frame_Shift_Del_p.V734fs|BAHD1_uc001zlv.2_Frame_Shift_Del_p.V735fs	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	738	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CAGCACTGGTTCCCCCCTCTG	0.592													-	40758201	C	-	40758201	7	5	12	1	0	1	0	1	0	0	0	0	1297	855	30	0	2237	0	BAHD1	15	40758201	Frame_Shift_Del	DEL	C	TCGA-BR-4257-01A-01D-1126-08	431562	40758201	61773191	967	10975											
RTF1	23168	broad.mit.edu	37	chr15	41772868	41772868	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttggaagactacaaaaaaCgacgagggcttatttgagca	10	7	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:41772868C>T	uc001zny.2	+	18	2128	c.2116C>T	c.(2116-2118)CGA>TGA	p.R706*		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Paf1/RNA polymerase II complex component	706					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CTACAAAAAACGACGAGGGCT	0.532													T	41772868	C	T	41772868	4	4	12	1	0	0	0	0	0	1	0	0	13721	528	19	1	2186	1	RTF1	15	41772868	Nonsense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1014667	41772868	60758524	968	10976											
MGA	23269	broad.mit.edu	37	chr15	41988756	41988756	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatacattgaaaattccaaTgagactgccttctgcttagg	7	9	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:41988756T>C	uc001zog.1	+	3	1639	c.1548T>C	c.(1546-1548)AAT>AAC	p.N516N	MGA_uc010ucy.1_Silent_p.N516N|MGA_uc010ucz.1_Silent_p.N516N	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 2	516						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AAAATTCCAATGAGACTGCCT	0.388													C	41988756	T	C	41988756	2	2	12	1	0	0	0	0	0	0	0	1	9540	1461	51	3		3	MGA	15	41988756	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	215888	41988756	60542636	969	10977											
ZFP106	64397	broad.mit.edu	37	chr15	42742591	42742592	+	Frame_Shift_Ins	INS	-	-	T													gcagaacctagggttccaatINSttttgttccatgcttttccg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:42742590_42742591A>AT	uc001zpw.3	-	1	2137_2138	c.1810_1811T>AT	c.(1810-1812)attfs	p.I604fs	ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Frame_Shift_Ins_p.I387fs|ZFP106_uc001zpy.1_Frame_Shift_Ins_p.I627fs	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	604						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TAGGGTTCCAATTTTTGTTCCA	0.431													T	42742592	-	T	42742591	7	5	12	1	0	1	1	0	0	0	0	0	17634	1493	52	0	3913	0	ZFP106	15	42742591	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	753835	42742591	59788801	970	10978											
ZSCAN29	146050	broad.mit.edu	37	chr15	43661966	43661966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccttggtgcgcacctccGgccttagccaccgacagcaa	10	17	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:43661966G>A	uc001zrk.1	-	1	293	c.146C>T	c.(145-147)CCG>CTG	p.P49L	ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc010bdf.1_Missense_Mutation_p.P48L|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Missense_Mutation_p.P48L|ZSCAN29_uc001zrm.2_Missense_Mutation_p.P48L|TUBGCP4_uc001zrn.2_5'Flank|TUBGCP4_uc001zro.2_5'Flank	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	zinc finger protein 690	49	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCGCACCTCCGGCCTTAGCCA	0.557													A	43661966	G	A	43661966	3	1	12	1	0	0	0	0	1	0	0	0	18233	1116	39	1	2432	1	ZSCAN29	15	43661966	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	919375	43661966	58869426	971	10979											
FBN1	2200	broad.mit.edu	37	chr15	48741074	48741074	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatatattggggatttcTtgacattcattacgatctgt	8	7	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:48741074T>G	uc001zwx.1	-	46	5890	c.5562A>C	c.(5560-5562)CAA>CAC	p.Q1854H	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1854	EGF-like 31; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGGGGATTTCTTGACATTCAT	0.353													G	48741074	T	G	48741074	3	3	12	1	0	0	0	0	1	0	0	0	5702	1606	56	5	3137	5	FBN1	15	48741074	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	5079108	48741074	53790318	972	10980											
ONECUT1	3175	broad.mit.edu	37	chr15	53081051	53081051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcctccggaaggtctccCggccggatttgagtttgctc	11	13	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:53081051C>T	uc002aci.1	-	1	1159	c.1031G>A	c.(1030-1032)CGG>CAG	p.R344Q		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	344	CUT.				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)		GAAGGTCTCCCGGCCGGATTT	0.672													T	53081051	C	T	53081051	3	4	12	1	0	0	0	0	1	0	0	0	10868	652	23	1	374	1	ONECUT1	15	53081051	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	4339977	53081051	49450341	973	10981											
TCF12	6938	broad.mit.edu	37	chr15	57545469	57545469	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatccatacagcagtctcgaAtggaggatcgtttagacaga	10	8	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:57545469A>G	uc002aec.2	+	15	1482	c.1198A>G	c.(1198-1200)ATG>GTG	p.M400V	TCF12_uc010ugm.1_Missense_Mutation_p.M452V|TCF12_uc010ugn.1_Missense_Mutation_p.M420V|TCF12_uc002aea.2_Missense_Mutation_p.M424V|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Missense_Mutation_p.M424V|TCF12_uc002aed.2_Missense_Mutation_p.M400V|TCF12_uc002aee.2_Missense_Mutation_p.M230V|TCF12_uc010bft.2_Missense_Mutation_p.M254V|TCF12_uc010ugo.1_Missense_Mutation_p.M164V|TCF12_uc010ugp.1_Missense_Mutation_p.M58V|TCF12_uc010ugq.1_Missense_Mutation_p.M34V|TCF12_uc010ugr.1_Missense_Mutation_p.M13V	NM_207038	NP_996921	Q99081	HTF4_HUMAN	transcription factor 12 isoform b	400					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(2)|lung(1)	8		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GCAGTCTCGAATGGAGGATCG	0.438			T	TEC	extraskeletal myxoid chondrosarcoma								G	57545469	A	G	57545469	3	3	12	1	0	0	0	0	1	0	0	0	15684	101	4	3	1401	3	TCF12	15	57545469	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	4464418	57545469	44985923	974	10982											
ALDH1A2	8854	broad.mit.edu	37	chr15	58285256	58285256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattttccaggcaaacatcaGcagggggaagttccactgaa	10	9	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:58285256G>A	uc002aex.2	-	6	629	c.571C>T	c.(571-573)CTG>TTG	p.L191L	ALDH1A2_uc002aey.2_Silent_p.L191L|ALDH1A2_uc010ugv.1_Silent_p.L170L|ALDH1A2_uc010ugw.1_Silent_p.L162L|ALDH1A2_uc002aew.2_Silent_p.L95L	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	191					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GCAAACATCAGCAGGGGGAAG	0.423													A	58285256	G	A	58285256	2	1	12	1	0	0	0	0	0	0	0	1	491	962	34	2		2	ALDH1A2	15	58285256	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	739787	58285256	44246136	975	10983											
GCNT3	9245	broad.mit.edu	37	chr15	59911456	59911456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacccttcagcgtgcacGgtggatgcctggctctgttc	13	14	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:59911456G>A	uc002age.2	+	3	1468	c.1019G>A	c.(1018-1020)CGG>CAG	p.R340Q	GCNT3_uc002agd.2_Missense_Mutation_p.R340Q	NM_004751	NP_004742	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin	340	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)	2						CAGCGTGCACGGTGGATGCCT	0.507													A	59911456	G	A	59911456	3	1	12	1	0	0	0	0	1	0	0	0	6302	1116	39	1	1021	1	GCNT3	15	59911456	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1626200	59911456	42619936	976	10984											
TLN2	83660	broad.mit.edu	37	chr15	62994288	62994288	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggtgtgaagctattggcCgccctcatggatgatgaggt	15	7	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:62994288C>T	uc002alb.3	+	15	1794	c.1794C>T	c.(1792-1794)GCC>GCT	p.A598A		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	598					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						AGCTATTGGCCGCCCTCATGG	0.582													T	62994288	C	T	62994288	2	4	12	1	0	0	0	0	0	0	0	1	15945	639	23	1		1	TLN2	15	62994288	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3082832	62994288	39537104	977	10985											
SLC24A1	9187	broad.mit.edu	37	chr15	65946296	65946296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgtgatctcttcaattgCgtcatgtaaatggagaatga	10	5	3	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:65946296C>T	uc010ujf.1	+	10	3466	c.3179C>T	c.(3178-3180)GCG>GTG	p.A1060V	SLC24A1_uc010uje.1_Intron|SLC24A1_uc010ujg.1_Missense_Mutation_p.A1030V|SLC24A1_uc010ujh.1_Missense_Mutation_p.A1042V|SLC24A1_uc010uji.1_Missense_Mutation_p.A387V	NM_004727	NP_004718	O60721	NCKX1_HUMAN	solute carrier family 24	1060	Helical; (Potential).				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity				0						TCTTCAATTGCGTCATGTAAA	0.383													T	65946296	C	T	65946296	3	4	12	1	0	0	0	0	1	0	0	0	14465	768	27	1	1319	1	SLC24A1	15	65946296	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2952008	65946296	36585096	978	10986											
ITGA11	22801	broad.mit.edu	37	chr15	68617468	68617468	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccctgtaccgagatgtaCcgagactctgagagtggtgg	15	9	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:68617468C>T	uc002ari.2	-	18	2409	c.2322_splice	c.e18+1	p.S774_splice	ITGA11_uc010bib.2_Splice_Site_p.S774_splice	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor						cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	CCGAGATGTACCGAGACTCTG	0.622													T	68617468	C	T	68617468	5	4	12	1	0	0	0	0	0	0	1	0	7874	521	18	4	1295	4	ITGA11	15	68617468	Splice_Site	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2671172	68617468	33913924	979	10987											
NOX5	79400	broad.mit.edu	37	chr15	69329504	69329504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcggactggcagtgtcccGcatggcagccgtgtgcatca	13	13	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:69329504G>A	uc002ars.1	+	8	1345	c.1325G>A	c.(1324-1326)CGC>CAC	p.R442H	NOX5_uc002arp.1_Missense_Mutation_p.R424H|NOX5_uc002arq.1_Missense_Mutation_p.R396H|NOX5_uc010bid.1_Missense_Mutation_p.R407H|NOX5_uc002arr.1_Missense_Mutation_p.R414H|NOX5_uc010bie.1_Missense_Mutation_p.R242H|NOX5_uc010bif.1_RNA	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	442	FAD-binding FR-type.|Helical; (Potential).				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(1)|pancreas(1)	2						GCAGTGTCCCGCATGGCAGCC	0.562													A	69329504	G	A	69329504	3	1	12	1	0	0	0	0	1	0	0	0	10559	1087	38	1	1388	1	NOX5	15	69329504	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	712036	69329504	33201888	980	10988											
LRRC49	54839	broad.mit.edu	37	chr15	71193355	71193355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttactcagacaggttgagCctagaaaggtgaggacaatt	11	7	1	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:71193355C>T	uc002asw.2	+	4	535	c.288C>T	c.(286-288)AGC>AGT	p.S96S	LRRC49_uc002asu.2_Silent_p.S86S|LRRC49_uc002asx.2_Silent_p.S52S|LRRC49_uc010ukf.1_Silent_p.S101S|LRRC49_uc002asy.2_5'UTR|LRRC49_uc002asz.2_Silent_p.S68S	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	96						cytoplasm|microtubule				ovary(1)	1						ACAGGTTGAGCCTAGAAAGGT	0.363													T	71193355	C	T	71193355	2	4	12	1	0	0	0	0	0	0	0	1	9006	738	26	2		2	LRRC49	15	71193355	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1863851	71193355	31338037	981	10989											
NEO1	4756	broad.mit.edu	37	chr15	73470705	73470705	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatgaagggttctatcagTgcattgctgaaaatgatgtt	11	5	2	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:73470705T>C	uc002avm.3	+	7	1370	c.1228T>C	c.(1228-1230)TGC>CGC	p.C410R	NEO1_uc010ukx.1_Missense_Mutation_p.C410R|NEO1_uc010uky.1_Missense_Mutation_p.C410R|NEO1_uc010ukz.1_5'UTR|NEO1_uc002avn.3_Missense_Mutation_p.C55R	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	410	Extracellular (Potential).|Ig-like C2-type 4.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						GTTCTATCAGTGCATTGCTGA	0.363													C	73470705	T	C	73470705	3	2	12	1	0	0	0	0	1	0	0	0	10336	1696	59	3	1254	3	NEO1	15	73470705	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	2277350	73470705	29060687	982	10990											
NEO1	4756	broad.mit.edu	37	chr15	73594972	73594972	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctatgaaccagatgagCtgaccaaagagatggcccac	11	10	0	6			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:73594972C>T	uc002avm.3	+	29	4463	c.4321C>T	c.(4321-4323)CTG>TTG	p.L1441L	NEO1_uc010ukx.1_Silent_p.L1430L|NEO1_uc010uky.1_Silent_p.L1388L|NEO1_uc010ukz.1_Silent_p.L854L|NEO1_uc002avn.3_Silent_p.L1079L	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	1441	Cytoplasmic (Potential).				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						ACCAGATGAGCTGACCAAAGA	0.507													T	73594972	C	T	73594972	2	4	12	1	0	0	0	0	0	0	0	1	10336	796	28	2		2	NEO1	15	73594972	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	124267	73594972	28936420	983	10991											
CSPG4	1464	broad.mit.edu	37	chr15	75968797	75968797	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaggactctgaagtggtcAtgagaggaggagaagttggt	17	5	2	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:75968797A>G	uc002baw.2	-	10	6156	c.6063T>C	c.(6061-6063)CAT>CAC	p.H2021H		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	2021	Extracellular (Potential).|CSPG 14.|Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						TGAAGTGGTCATGAGAGGAGG	0.602													G	75968797	A	G	75968797	2	3	12	1	0	0	0	0	0	0	0	1	3960	214	8	3		3	CSPG4	15	75968797	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2373825	75968797	26562595	984	10992											
CHRNB4	1143	broad.mit.edu	37	chr15	78921917	78921917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagcaaggtggtgagcaCgcaggggatgatgaggttga	19	6	0	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:78921917C>T	uc002bed.1	-	5	842	c.730G>A	c.(730-732)GTG>ATG	p.V244M	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.V62M	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	244	Helical; (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						GTGGTGAGCACGCAGGGGATG	0.547													T	78921917	C	T	78921917	3	4	12	1	0	0	0	0	1	0	0	0	3393	536	19	1	774	1	CHRNB4	15	78921917	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2953120	78921917	23609475	985	10993											
SH3GL3	6457	broad.mit.edu	37	chr15	84237297	84237297	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taagcatacagagctaagctAggaatgctgaacactgtgtc	10	8	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:84237297A>G	uc002bjw.2	+	4	399	c.204A>G	c.(202-204)CTA>CTG	p.L68L	SH3GL3_uc010uot.1_Silent_p.L68L|SH3GL3_uc002bjx.2_5'UTR|SH3GL3_uc002bju.2_Silent_p.L76L|SH3GL3_uc002bjv.2_RNA	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	68	Required for dimerization upon membrane association (By similarity).|BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			pancreas(1)|central_nervous_system(1)|skin(1)	3						GAGCTAAGCTAGGAATGCTGA	0.448													G	84237297	A	G	84237297	2	3	12	1	0	0	0	0	0	0	0	1	14252	407	15	3		3	SH3GL3	15	84237297	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	5315380	84237297	18294095	986	10994											
ZSCAN2	54993	broad.mit.edu	37	chr15	85164068	85164068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctcataggcctgcagggCacctacctaggggagaagcc	13	13	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:85164068C>T	uc002bkr.2	+	3	868	c.642C>T	c.(640-642)GGC>GGT	p.G214G	ZSCAN2_uc010bmz.1_Silent_p.G212G|ZSCAN2_uc010bna.2_Silent_p.G64G|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	214					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GCCTGCAGGGCACCTACCTAG	0.602													T	85164068	C	T	85164068	2	4	12	1	0	0	0	0	0	0	0	1	18228	697	25	2		2	ZSCAN2	15	85164068	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	926771	85164068	17367324	987	10995											
SEMA4B	10509	broad.mit.edu	37	chr15	90766851	90766851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccttcctcaaggcccagCtgctgtgctcacggcccgac	9	19	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:90766851C>T	uc002boy.2	+	9	1205	c.922C>T	c.(922-924)CTG>TTG	p.L308L	SEMA4B_uc002boz.2_Silent_p.L308L|SEMA4B_uc010uqd.1_Silent_p.L146L|SEMA4B_uc002bpa.2_Silent_p.L146L|SEMA4B_uc010bnv.1_5'UTR	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CAAGGCCCAGCTGCTGTGCTC	0.637													T	90766851	C	T	90766851	2	4	12	1	0	0	0	0	0	0	0	1	14032	796	28	2		2	SEMA4B	15	90766851	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	5602783	90766851	11764541	988	10996											
SLCO3A1	28232	broad.mit.edu	37	chr15	92647631	92647631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggtttccacagtccctgCccccgcactcagagcccgcc	9	19	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:92647631C>T	uc002bqx.2	+	4	1069	c.868C>T	c.(868-870)CCC>TCC	p.P290S	SLCO3A1_uc002bqy.2_Missense_Mutation_p.P290S|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Missense_Mutation_p.P232S	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	290	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			skin(1)	1	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			ACAGTCCCTGCCCCCGCACTC	0.617													T	92647631	C	T	92647631	3	4	12	1	0	0	0	0	1	0	0	0	14728	739	26	2	882	2	SLCO3A1	15	92647631	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1880780	92647631	9883761	989	10997											
MCTP2	55784	broad.mit.edu	37	chr15	94901781	94901781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacttctctgacaggatggGcattttggacattgaagtgt	11	7	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:94901781G>A	uc002btj.2	+	9	1306	c.1241G>A	c.(1240-1242)GGC>GAC	p.G414D	MCTP2_uc010urg.1_Silent_p.G392G|MCTP2_uc002bti.2_Missense_Mutation_p.G414D|MCTP2_uc010boj.2_Missense_Mutation_p.G143D|MCTP2_uc010bok.2_Missense_Mutation_p.G414D|MCTP2_uc002btk.3_Missense_Mutation_p.G2D|MCTP2_uc002btl.2_Missense_Mutation_p.G2D	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	414	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GACAGGATGGGCATTTTGGAC	0.453													A	94901781	G	A	94901781	3	1	12	1	0	0	0	0	1	0	0	0	9401	1203	42	2	1275	2	MCTP2	15	94901781	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2254150	94901781	7629611	990	10998											
SYNM	23336	broad.mit.edu	37	chr15	99671044	99671044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcaggtgattcagagggcGagcagagttattttgtgtcc	15	6	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:99671044G>A	uc002bup.2	+	6	2599	c.2479G>A	c.(2479-2481)GAG>AAG	p.E827K	SYNM_uc002buo.2_Missense_Mutation_p.E827K|SYNM_uc002buq.2_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	827	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			ovary(3)|central_nervous_system(1)	4						TTCAGAGGGCGAGCAGAGTTA	0.547													A	99671044	G	A	99671044	3	1	12	1	0	0	0	0	1	0	0	0	15452	1059	37	1	2492	1	SYNM	15	99671044	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	4769263	99671044	2860348	991	10999											
TTC23	64927	broad.mit.edu	37	chr15	99701948	99701948	+	Frame_Shift_Del	DEL	T	T	-													gatccaaactcacttacctcTttttgtccagtcatttgtag							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:99701947_99701947CT>C	uc002bur.3	-	9	1522	c.991_991AG>G	c.(991-993)gagfs	p.E331fs	TTC23_uc002bus.3_Frame_Shift_Del_p.E331fs|TTC23_uc002but.3_Frame_Shift_Del_p.E331fs|TTC23_uc002buu.3_Frame_Shift_Del_p.E331fs|TTC23_uc002buv.3_Frame_Shift_Del_p.E331fs|TTC23_uc002bux.3_Frame_Shift_Del_p.E331fs|TTC23_uc002buw.3_Frame_Shift_Del_p.E331fs|TTC23_uc010boq.3_Non-coding_Transcript|TTC23_uc002buy.3_Frame_Shift_Del_p.E331fs|TTC23_uc010bor.3_Frame_Shift_Del_p.E331fs|TTC23_uc002buz.2_Frame_Shift_Del_p.E331fs	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	Homo sapiens tetratricopeptide repeat domain 23 (TTC23), transcript variant 2, mRNA.	331							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TCACTTACCTCTTTTTGTCCA	0.383													-	99701948	T	-	99701948	7	5	12	1	0	1	0	1	0	0	0	0	16687	1606	56	0	369	0	TTC23	15	99701948	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	30904	99701948	2829444	992	11000											
TM2D3	80213	broad.mit.edu	37	chr15	102182749	102182749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcaggacgtctatcagcGtccatattcccaggccaccg	10	14	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:102182749G>A	uc002bxi.2	-	6	707	c.677C>T	c.(676-678)ACG>ATG	p.T226M	TM2D3_uc010usg.1_Intron|TM2D3_uc002bxh.2_Missense_Mutation_p.T161M|TM2D3_uc002bxj.2_Missense_Mutation_p.T200M|TM2D3_uc002bxk.2_Missense_Mutation_p.T161M	NM_078474	NP_510883	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3 isoform a	226	Helical; (Potential).					integral to membrane				ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTCTATCAGCGTCCATATTCC	0.557													A	102182749	G	A	102182749	3	1	12	1	0	0	0	0	1	0	0	0	15962	1145	40	1	70	1	TM2D3	15	102182749	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2480801	102182749	348643	993	11001											
TARSL2	123283	broad.mit.edu	37	chr15	102224299	102224299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctccactgtgcaaaaaatGtgagcatcgtcctgctggaa	10	10	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:102224299G>A	uc002bxm.2	-	12	1684	c.1629C>T	c.(1627-1629)CAC>CAT	p.H543H	TARSL2_uc002bxl.2_Silent_p.H88H|TARSL2_uc010usi.1_RNA	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	543					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			ovary(2)	2	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGCAAAAAATGTGAGCATCGT	0.468													A	102224299	G	A	102224299	2	1	12	1	0	0	0	0	0	0	0	1	15558	1368	48	4		4	TARSL2	15	102224299	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	41550	102224299	307093	994	11002											
AXIN1	8312	broad.mit.edu	37	chr16	339512	339512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggcccctcaccagggtgCggtaggggatgggttccccg	17	14	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:339512C>T	uc002cgp.1	-	10	2567	c.2390G>A	c.(2389-2391)CGC>CAC	p.R797H	AXIN1_uc002cgq.1_Missense_Mutation_p.R761H	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	797	DIX.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CACCAGGGTGCGGTAGGGGAT	0.652													T	339512	C	T	339512	3	4	12	1	0	0	0	0	1	0	0	0	1236	768	27	1	206	1	AXIN1	16	339512	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08		339512	90015241	995	11003											
JMJD8	339123	broad.mit.edu	37	chr16	733072	733072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggcgtcttctcaggtgGgtaaaggaaccagcgctggg	15	10	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:733072G>A	uc002ciw.1	-	8	715	c.658C>T	c.(658-660)CCA>TCA	p.P220S	JMJD8_uc002cix.1_Missense_Mutation_p.P220S|JMJD8_uc002ciy.1_Missense_Mutation_p.P190S	NM_001005920	NP_001005920	Q96S16	JMJD8_HUMAN	jumonji domain containing 8	269	JmjC.									breast(1)	1						TTCTCAGGTGGGTAAAGGAAC	0.642													A	733072	G	A	733072	3	1	12	1	0	0	0	0	1	0	0	0	7956	1232	43	4	207	4	JMJD8	16	733072	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	393560	733072	89621681	996	11004											
BAIAP3	8938	broad.mit.edu	37	chr16	1394670	1394670	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgatgaccttcagttctgCtacagtgtgtacgccagcct	9	11	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:1394670C>A	uc002clk.1	+	19	1833	c.1833C>A	c.(1831-1833)TGC>TGA	p.C611*	BAIAP3_uc002clj.2_Nonsense_Mutation_p.C593*|BAIAP3_uc010uuz.1_Nonsense_Mutation_p.C576*|BAIAP3_uc010uva.1_Nonsense_Mutation_p.C548*|BAIAP3_uc010uvc.1_Nonsense_Mutation_p.C540*	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	611					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				TTCAGTTCTGCTACAGTGTGT	0.652													A	1394670	C	A	1394670	4	1	12	1	0	0	0	0	0	1	0	0	1304	805	28	5	1907	5	BAIAP3	16	1394670	Nonsense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	661598	1394670	88960083	997	11005											
RPS2	6187	broad.mit.edu	37	chr16	2012162	2012162	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actctggtgtgggtcttgacGaggtggtcagtgaactcctg	15	8	3	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:2012162G>A	uc002cnn.2	-	6	1007	c.819C>T	c.(817-819)CTC>CTT	p.L273L	RPS2_uc010bsa.1_RNA|RPS2_uc002cnl.2_Silent_p.L215L|RPS2_uc002cnm.2_RNA|RPS2_uc002cno.2_Silent_p.L273L|SNHG9_uc002cnr.2_5'Flank	NM_002952	NP_002943	P15880	RS2_HUMAN	ribosomal protein S2	273					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome				0						GGGTCTTGACGAGGTGGTCAG	0.493													A	2012162	G	A	2012162	2	1	12	1	0	0	0	0	0	0	0	1	13631	1045	37	1		1	RPS2	16	2012162	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	617492	2012162	88342591	998	11006											
CASKIN1	57524	broad.mit.edu	37	chr16	2240127	2240127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccagcagcaggctgatcAattccgtgttgccgttcagg	11	13	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:2240127A>G	uc010bsg.1	-	3	223	c.191T>C	c.(190-192)TTG>TCG	p.L64S		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	64	ANK 1.				signal transduction	cytoplasm				skin(2)	2						CAGGCTGATCAATTCCGTGTT	0.672													G	2240127	A	G	2240127	3	3	12	1	0	0	0	0	1	0	0	0	2666	131	5	3	4176	3	CASKIN1	16	2240127	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	227965	2240127	88114626	999	11007											
MLST8	64223	broad.mit.edu	37	chr16	2258499	2258499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgcaagatctggaggacGtccaacttctccctgatgac	10	12	2	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:2258499G>A	uc002coz.2	+	8	866	c.747G>A	c.(745-747)ACG>ACA	p.T249T	MLST8_uc002coy.2_Silent_p.T249T|MLST8_uc002cpa.2_Silent_p.T65T|MLST8_uc002cpb.2_Silent_p.T248T|MLST8_uc010uvx.1_Silent_p.T183T|MLST8_uc002cpc.2_Silent_p.T249T|MLST8_uc002cpd.2_Silent_p.T183T|MLST8_uc002cpe.2_Silent_p.T249T|MLST8_uc002cpg.2_Silent_p.T268T|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Silent_p.T249T	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	G protein beta subunit-like	249	WD 6.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding				0						TCTGGAGGACGTCCAACTTCT	0.662													A	2258499	G	A	2258499	2	1	12	1	0	0	0	0	0	0	0	1	9634	1132	40	1		1	MLST8	16	2258499	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	18372	2258499	88096254	1000	11008											
ADCY9	115	broad.mit.edu	37	chr16	4164627	4164627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgcagggccccggctcCgggcgaggggaagcaggctt	18	13	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:4164627C>T	uc002cvx.2	-	2	1356	c.817G>A	c.(817-819)GGA>AGA	p.G273R		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	273	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						GCCCCGGCTCCGGGCGAGGGG	0.622													T	4164627	C	T	4164627	3	4	12	1	0	0	0	0	1	0	0	0	301	661	23	1	3284	1	ADCY9	16	4164627	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1906128	4164627	86190126	1001	11009											
ADCY9	115	broad.mit.edu	37	chr16	4164980	4164980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagaaagaagcccacacacAccaggaggaagcacagcgcg	11	13	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:4164980A>G	uc002cvx.2	-	2	1003	c.464T>C	c.(463-465)GTG>GCG	p.V155A		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	155	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						GCCCACACACACCAGGAGGAA	0.587													G	4164980	A	G	4164980	3	3	12	1	0	0	0	0	1	0	0	0	301	159	6	3	3637	3	ADCY9	16	4164980	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	353	4164980	86189773	1002	11010											
TFAP4	7023	broad.mit.edu	37	chr16	4312636	4312636	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccgctcgttgctgttggcGatctcccgccgaatccgccg	11	17	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:4312636G>A	uc010uxg.1	-	2	410	c.156C>T	c.(154-156)ATC>ATT	p.I52I		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	52	Basic motif.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						TGCTGTTGGCGATCTCCCGCC	0.627													A	4312636	G	A	4312636	2	1	12	1	0	0	0	0	0	0	0	1	15789	1048	37	1		1	TFAP4	16	4312636	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	147656	4312636	86042117	1003	11011											
MGRN1	23295	broad.mit.edu	37	chr16	4701990	4701990	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgtcactcctgccccccaCgagcccgtgaagacgctgcg	10	18	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:4701990C>T	uc002cwz.2	+	3	370	c.234C>T	c.(232-234)CAC>CAT	p.H78H	MGRN1_uc002cxa.2_Silent_p.H78H|MGRN1_uc010btx.2_Silent_p.H78H|MGRN1_uc010btw.2_Silent_p.H78H|MGRN1_uc002cxb.2_Silent_p.H78H|MGRN1_uc010uxo.1_Silent_p.H78H|MGRN1_uc010uxp.1_Silent_p.H78H|MGRN1_uc010uxq.1_RNA	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 3	78					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						CTGCCCCCCACGAGCCCGTGA	0.617													T	4701990	C	T	4701990	2	4	12	1	0	0	0	0	0	0	0	1	9559	535	19	1		1	MGRN1	16	4701990	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	389354	4701990	85652763	1004	11012											
A2BP1	54715	broad.mit.edu	37	chr16	7645632	7645632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggcaccgtggtagagggcCgtaaaatcgaggtgcatgtt	15	8	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:7645632C>T	uc002cys.2	+	8	1538	c.550C>T	c.(550-552)CGT>TGT	p.R184C	A2BP1_uc010buf.1_Missense_Mutation_p.R184C|A2BP1_uc002cyr.1_Missense_Mutation_p.R183C|A2BP1_uc002cyt.2_Missense_Mutation_p.R184C|A2BP1_uc010uxz.1_Missense_Mutation_p.R227C|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Missense_Mutation_p.R184C|A2BP1_uc010uyb.1_Missense_Mutation_p.R184C|A2BP1_uc002cyw.2_Missense_Mutation_p.R204C|A2BP1_uc002cyy.2_Missense_Mutation_p.R204C|A2BP1_uc002cyx.2_Missense_Mutation_p.R204C|A2BP1_uc010uyc.1_Missense_Mutation_p.R204C	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	184	RRM.	Interaction with RNA.			mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		GGTAGAGGGCCGTAAAATCGA	0.453													T	7645632	C	T	7645632	3	4	12	1	0	0	0	0	1	0	0	0	3	652	23	1	659	1	A2BP1	16	7645632	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2943642	7645632	82709121	1005	11013											
NUBP1	4682	broad.mit.edu	37	chr16	10850626	10850626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttatctggaggggacCcaagaaaaacggtttgccac	12	9	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:10850626C>T	uc002daa.1	+	6	463	c.440C>T	c.(439-441)CCC>CTC	p.P147L	NUBP1_uc010bum.1_Intron|NUBP1_uc002dab.1_Missense_Mutation_p.P136L	NM_002484	NP_002475	P53384	NUBP1_HUMAN	nucleotide binding protein 1	147					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			ovary(1)|skin(1)	2						TGGAGGGGACCCAAGAAAAAC	0.532													T	10850626	C	T	10850626	3	4	12	1	0	0	0	0	1	0	0	0	10715	623	22	4	462	4	NUBP1	16	10850626	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3204994	10850626	79504127	1006	11014											
FAM18A	780776	broad.mit.edu	37	chr16	10868933	10868933	+	Frame_Shift_Del	DEL	A	A	-													tcactcggaaaaacaggtggAaaaaggtggccaaggggtgt							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:10868933delA	uc010buo.1	-	3	381	c.110delT	c.(109-111)TTCfs	p.F37fs	FAM18A_uc010uyr.1_Intron|FAM18A_uc010uys.1_Intron|FAM18A_uc010uyt.1_RNA|FAM18A_uc010bun.2_RNA|FAM18A_uc010uyu.1_Intron|FAM18A_uc002dad.3_RNA|FAM18A_uc002daf.1_RNA|FAM18A_uc002dae.1_5'UTR	NM_001079512	NP_001072980	A6NH52	FA18A_HUMAN	hypothetical protein LOC780776	37	Helical; (Potential).					integral to membrane					0						AAACAGGTGGAAAAAGGTGGC	0.537													-	10868933	A	-	10868933	7	5	12	1	0	1	0	1	0	0	0	0	5518	246	9	0	551	0	FAM18A	16	10868933	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	18307	10868933	79485820	1007	11015											
BFAR	51283	broad.mit.edu	37	chr16	14758878	14758878	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaatgctatgttactctcAgttctggaattattctcctt	5	9	4	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:14758878A>G	uc002dco.2	+	7	1391	c.1110A>G	c.(1108-1110)TCA>TCG	p.S370S	BFAR_uc002dcp.2_Silent_p.S245S|BFAR_uc010uzh.1_Silent_p.S242S	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	370	Helical; (Potential).				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			ovary(1)|skin(1)	2						TGTTACTCTCAGTTCTGGAAT	0.428													G	14758878	A	G	14758878	2	3	12	1	0	0	0	0	0	0	0	1	1414	175	7	3		3	BFAR	16	14758878	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	3889945	14758878	75595875	1008	11016											
ACSM1	116285	broad.mit.edu	37	chr16	20702489	20702489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggatgccccagagggtccGgaacctcattagccactgca	12	13	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:20702489G>A	uc002dhm.1	-	1	90	c.22C>T	c.(22-24)CGG>TGG	p.R8W	ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Missense_Mutation_p.R8W	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	8					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|skin(1)	2						CAGAGGGTCCGGAACCTCATT	0.532													A	20702489	G	A	20702489	3	1	12	1	0	0	0	0	1	0	0	0	182	1115	39	1	1763	1	ACSM1	16	20702489	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	5943611	20702489	69652264	1009	11017											
DNAH3	55567	broad.mit.edu	37	chr16	21042447	21042447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcaaatataatccacttgcGatcatcagagagtgaagacg	8	8	3	3	rs146173789		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:21042447G>A	uc010vbe.1	-	37	5359	c.5359C>T	c.(5359-5361)CGC>TGC	p.R1787C		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1787	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		ATCCACTTGCGATCATCAGAG	0.458													A	21042447	G	A	21042447	3	1	12	1	0	0	0	0	1	0	0	0	4603	1058	37	1	7094	1	DNAH3	16	21042447	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	339958	21042447	69312306	1010	11018											
DNAH3	55567	broad.mit.edu	37	chr16	21063028	21063028	+	Frame_Shift_Del	DEL	G	G	-													gaggggtgtgatcaccagccGgggggagtttcccaggtact							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:21063027_21063027CG>C	uc010vbe.2	-	28	4202	c.4202_4202CG>G	c.(4201-4203)cggfs	p.R1401fs		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1401	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GATCACCAGCCGGGGGGAGTT	0.567													-	21063028	G	-	21063028	7	5	12	1	0	1	0	1	0	0	0	0	4603	1115	39	0	8284	0	DNAH3	16	21063028	Frame_Shift_Del	DEL	G	TCGA-BR-4257-01A-01D-1126-08	20581	21063028	69291725	1011	11019											
IL4R	3566	broad.mit.edu	37	chr16	27353456	27353456	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccagggaacatgaaggtcTtgcaggagcccacctgcgtc	12	14	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:27353456T>C	uc002don.2	+	4	327	c.85T>C	c.(85-87)TTG>CTG	p.L29L	IL4R_uc002dom.2_Silent_p.L29L|IL4R_uc002dop.3_Silent_p.L14L|IL4R_uc010bxy.2_Silent_p.L29L|IL4R_uc002doo.2_5'UTR	NM_000418	NP_000409	P24394	IL4RA_HUMAN	interleukin 4 receptor alpha chain isoform a	29	Extracellular (Potential).				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			ovary(1)|skin(1)	2						CATGAAGGTCTTGCAGGAGCC	0.577													C	27353456	T	C	27353456	2	2	12	1	0	0	0	0	0	0	0	1	7698	1606	56	3		3	IL4R	16	27353456	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	6290428	27353456	63001297	1012	11020											
IL27	246778	broad.mit.edu	37	chr16	28513323	28513323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggaggtgccgctgcagatCgcggaggtccagcctcatgg	17	12	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:28513323C>T	uc002dqc.2	-	4	459	c.436G>A	c.(436-438)GAT>AAT	p.D146N	uc010vct.1_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	interleukin 27 precursor	146					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding				0						CGCTGCAGATCGCGGAGGTCC	0.652													T	28513323	C	T	28513323	3	4	12	1	0	0	0	0	1	0	0	0	7680	884	31	1	303	1	IL27	16	28513323	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1159867	28513323	61841430	1013	11021											
ATP2A1	487	broad.mit.edu	37	chr16	28913640	28913641	+	Frame_Shift_Ins	INS	-	-	C													acctggacatcatggaccgcINScccccccggagccccaagga							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:28913639_28913640G>GC	uc002dro.1	+	16	2640_2641	c.2456_2457G>GC	c.(2455-2457)cgcfs	p.R819fs	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Frame_Shift_Ins_p.R819fs|ATP2A1_uc002drp.1_Frame_Shift_Ins_p.R694fs	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	819					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						ATCATGGACCGCCCCCCCCGGA	0.658													C	28913641	-	C	28913640	7	5	12	1	0	1	1	0	0	0	0	0	1136	726	26	0	2523	0	ATP2A1	16	28913640	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	400317	28913640	61441113	1014	11022											
KCTD13	253980	broad.mit.edu	37	chr16	29922371	29922371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgattttgcggccctgcccGtagaaagaccagcagcagat	12	12	0	3	rs143894366		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:29922371G>A	uc002duv.2	-	5	872	c.681C>T	c.(679-681)TAC>TAT	p.Y227Y	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Intron|ASPHD1_uc010bzi.2_Intron|KCTD13_uc010vee.1_RNA	NM_178863	NP_849194	Q8WZ19	BACD1_HUMAN	potassium channel tetramerisation domain	227					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity				0						GGCCCTGCCCGTAGAAAGACC	0.587													A	29922371	G	A	29922371	2	1	12	1	0	0	0	0	0	0	0	1	8100	1140	40	1		1	KCTD13	16	29922371	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1008731	29922371	60432382	1015	11023											
HIRIP3	8479	broad.mit.edu	37	chr16	30005496	30005496	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcaacctcttcccaccctTaagctgggtcctgtcctcac	5	18	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:30005496T>C	uc002dve.2	-	4	1431	c.970A>G	c.(970-972)AAG>GAG	p.K324E	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_Intron	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	324					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)	1						TTCCCACCCTTAAGCTGGGTC	0.577													C	30005496	T	C	30005496	3	2	12	1	0	0	0	0	1	0	0	0	7121	1763	61	3	716	3	HIRIP3	16	30005496	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	83125	30005496	60349257	1016	11024											
TBX6	6911	broad.mit.edu	37	chr16	30100291	30100291	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggggtccagcgtgctgttGgtgagcttgacacgatggaa	17	7	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:30100291G>T	uc010veh.1	-	4	654	c.594C>A	c.(592-594)ACC>ACA	p.T198T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TBX6_uc002dwk.1_Silent_p.T198T	NM_004608	NP_004599	O95947	TBX6_HUMAN	T-box 6	198	T-box.				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						GCGTGCTGTTGGTGAGCTTGA	0.652													T	30100291	G	T	30100291	2	4	12	1	0	0	0	0	0	0	0	1	15659	1335	47	5		5	TBX6	16	30100291	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	94795	30100291	60254462	1017	11025											
ZNF668	79759	broad.mit.edu	37	chr16	31072722	31072722	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgggggggcttctcgtcAgcctcctcaccccccgcctc	10	19	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:31072722A>G	uc010caf.2	-	3	1884	c.1527T>C	c.(1525-1527)GCT>GCC	p.A509A	ZNF668_uc002eao.2_Silent_p.A509A	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4						GCTTCTCGTCAGCCTCCTCAC	0.657													G	31072722	A	G	31072722	2	3	12	1	0	0	0	0	0	0	0	1	18072	175	7	3		3	ZNF668	16	31072722	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	972431	31072722	59282031	1018	11026											
MYST1	84148	broad.mit.edu	37	chr16	31131803	31131803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcactcgcaaccaaaagCgcaagcatgatgagatcaac	8	11	2	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:31131803C>T	uc002eay.2	+	3	448	c.430C>T	c.(430-432)CGC>TGC	p.R144C	MYST1_uc002eax.2_Missense_Mutation_p.R144C	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	MYST histone acetyltransferase 1 isoform 1	144					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding			ovary(1)	1						CAACCAAAAGCGCAAGCATGA	0.567													T	31131803	C	T	31131803	3	4	12	1	0	0	0	0	1	0	0	0	10102	768	27	1	440	1	MYST1	16	31131803	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	59081	31131803	59222950	1019	11027											
ITGAX	3687	broad.mit.edu	37	chr16	31383801	31383801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgcggcctatgctggccGccgatgctcagagatacttc	11	14	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:31383801G>A	uc002ebu.1	+	18	2330	c.2263G>A	c.(2263-2265)GCC>ACC	p.A755T	ITGAX_uc002ebt.2_Missense_Mutation_p.A755T	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	755	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TATGCTGGCCGCCGATGCTCA	0.632													A	31383801	G	A	31383801	3	1	12	1	0	0	0	0	1	0	0	0	7889	1087	38	1	2333	1	ITGAX	16	31383801	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	251998	31383801	58970952	1020	11028											
ZNF423	23090	broad.mit.edu	37	chr16	49671711	49671711	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgttgaggttgtagagggtgGgcatggagtccaggcagatc	18	6	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:49671711G>T	uc002efs.2	-	5	1650	c.1352C>A	c.(1351-1353)CCC>CAC	p.P451H	ZNF423_uc010vgn.1_Missense_Mutation_p.P334H	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	451	C2H2-type 10.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GTAGAGGGTGGGCATGGAGTC	0.562													T	49671711	G	T	49671711	3	4	12	1	0	0	0	0	1	0	0	0	17895	1232	43	5	2522	5	ZNF423	16	49671711	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	18287910	49671711	40683042	1021	11029											
ADCY7	113	broad.mit.edu	37	chr16	50332842	50332842	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgcatgcgaatcaagatcCtcggcgactgctactactgt	10	11	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:50332842C>A	uc002egd.1	+	7	1244	c.976C>A	c.(976-978)CTC>ATC	p.L326I	ADCY7_uc002egb.1_Missense_Mutation_p.L326I|ADCY7_uc002egc.1_Missense_Mutation_p.L326I	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	326	Cytoplasmic (Potential).|Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	AATCAAGATCCTCGGCGACTG	0.637													A	50332842	C	A	50332842	3	1	12	1	0	0	0	0	1	0	0	0	299	681	24	5	1002	5	ADCY7	16	50332842	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	661131	50332842	40021911	1022	11030											
SALL1	6299	broad.mit.edu	37	chr16	51174686	51174686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggtggagaacctgttccCgcagatgttgcacttgaatg	12	9	0	3	rs148915594		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:51174686C>T	uc010vgs.1	-	2	1478	c.1447G>A	c.(1447-1449)GGG>AGG	p.G483R	SALL1_uc010vgr.1_Missense_Mutation_p.G386R|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	483	C2H2-type 2.				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AACCTGTTCCCGCAGATGTTG	0.527													T	51174686	C	T	51174686	3	4	12	1	0	0	0	0	1	0	0	0	13810	652	23	1	2535	1	SALL1	16	51174686	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	841844	51174686	39180067	1023	11031											
MMP2	4313	broad.mit.edu	37	chr16	55519218	55519218	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtgtttcagagcatggCgatggatacccctttgacgg	14	8	1	2	rs151071926		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:55519218C>T	uc002ehz.3	+	4	848	c.537C>T	c.(535-537)GGC>GGT	p.G179G	MMP2_uc010vhd.1_Silent_p.G103G|MMP2_uc010ccc.2_Silent_p.G129G	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	179	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CAGAGCATGGCGATGGATACC	0.567													T	55519218	C	T	55519218	2	4	12	1	0	0	0	0	0	0	0	1	9658	755	27	1		1	MMP2	16	55519218	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	4344532	55519218	34835535	1024	11032											
MMP2	4313	broad.mit.edu	37	chr16	55525756	55525756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccacgagtttggccacgcCatggggctggagcactccca	13	15	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:55525756C>T	uc002ehz.3	+	8	1535	c.1224C>T	c.(1222-1224)GCC>GCT	p.A408A	MMP2_uc010vhd.1_Silent_p.A332A|MMP2_uc010ccc.2_Silent_p.A358A|MMP2_uc002eia.3_5'Flank	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	408	Collagenase-like 2.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TTGGCCACGCCATGGGGCTGG	0.577													T	55525756	C	T	55525756	2	4	12	1	0	0	0	0	0	0	0	1	9658	581	21	4		4	MMP2	16	55525756	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	6538	55525756	34828997	1025	11033											
CETP	1071	broad.mit.edu	37	chr16	57016121	57016121	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgcagtcaatgatcacCgctgtgggcatccctgaggt	11	12	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:57016121C>T	uc002eki.2	+	14	1350	c.1293C>T	c.(1291-1293)ACC>ACT	p.T431T	CETP_uc002ekj.2_Silent_p.T371T	NM_000078	NP_000069	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	431					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			central_nervous_system(1)|skin(1)	2						CAATGATCACCGCTGTGGGCA	0.582													T	57016121	C	T	57016121	2	4	12	1	0	0	0	0	0	0	0	1	3277	639	23	1		1	CETP	16	57016121	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1490365	57016121	33338632	1026	11034											
NLRC5	84166	broad.mit.edu	37	chr16	57092035	57092035	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttctggaatgtctgccgCaggtgcccatctccggtttg	12	13	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:57092035C>T	uc002ekk.1	+	28	4030	c.3805C>T	c.(3805-3807)CAG>TAG	p.Q1269*	NLRC5_uc002ekn.2_Intron|NLRC5_uc002ekl.2_Nonsense_Mutation_p.Q1073*|NLRC5_uc002ekm.2_Nonsense_Mutation_p.Q1043*|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekp.1_Nonsense_Mutation_p.Q184*|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Nonsense_Mutation_p.Q156*	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	1269					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				ATGTCTGCCGCAGGTGCCCAT	0.577													T	57092035	C	T	57092035	4	4	12	1	0	0	0	0	0	1	0	0	10470	711	25	2	3907	2	NLRC5	16	57092035	Nonsense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	75914	57092035	33262718	1027	11035											
CCDC113	29070	broad.mit.edu	37	chr16	58288046	58288046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagggcaaatgcggaacgcGacctgcagcatcacgaggta	13	11	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:58288046G>A	uc002ene.2	+	3	452	c.373G>A	c.(373-375)GAC>AAC	p.D125N	CCDC113_uc010vid.1_Intron	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113 isoform 1	125	Potential.					protein complex					0						TGCGGAACGCGACCTGCAGCA	0.562													A	58288046	G	A	58288046	3	1	12	1	0	0	0	0	1	0	0	0	2750	1058	37	1	383	1	CCDC113	16	58288046	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1196011	58288046	32066707	1028	11036											
GOT2	2806	broad.mit.edu	37	chr16	58757658	58757658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaagctcaccttgcggaCgctaggcagaacgtaaggct	12	12	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:58757658C>T	uc002eof.1	-	2	352	c.238G>A	c.(238-240)GTC>ATC	p.V80I	GOT2_uc010vim.1_Missense_Mutation_p.V80I	NM_002080	NP_002071	P00505	AATM_HUMAN	aspartate aminotransferase 2 precursor	80					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ACCTTGCGGACGCTAGGCAGA	0.378													T	58757658	C	T	58757658	3	4	12	1	0	0	0	0	1	0	0	0	6581	536	19	1	1090	1	GOT2	16	58757658	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	469612	58757658	31597095	1029	11037											
PLEKHG4	25894	broad.mit.edu	37	chr16	67319435	67319435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggcctatgccttcctgcGccatgtaagcccgacaggcc	11	15	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:67319435G>A	uc002eso.3	+	13	4973	c.2438G>A	c.(2437-2439)CGC>CAC	p.R813H	PLEKHG4_uc002esp.3_Missense_Mutation_p.R620H|PLEKHG4_uc002esq.3_Missense_Mutation_p.R813H|PLEKHG4_uc010cef.2_Missense_Mutation_p.R813H|PLEKHG4_uc002ess.3_Missense_Mutation_p.R813H|PLEKHG4_uc010ceg.2_Missense_Mutation_p.R732H	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	813	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GCCTTCCTGCGCCATGTAAGC	0.493													A	67319435	G	A	67319435	3	1	12	1	0	0	0	0	1	0	0	0	12071	1087	38	1	2488	1	PLEKHG4	16	67319435	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	8561777	67319435	23035318	1030	11038											
LRRC36	55282	broad.mit.edu	37	chr16	67412553	67412553	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcattttgtcagaaaaaaTtcaacagttggaggaaggtg	10	6	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:67412553T>A	uc002esv.2	+	12	1887	c.1868T>A	c.(1867-1869)ATT>AAT	p.I623N	LRRC36_uc002esw.2_RNA|LRRC36_uc002esx.2_Missense_Mutation_p.I502N|LRRC36_uc010vjk.1_Missense_Mutation_p.I398N|LRRC36_uc010vjl.1_Missense_Mutation_p.I95N|LRRC36_uc002esy.2_Missense_Mutation_p.I133N	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36 isoform 1	623	Potential.										0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TCAGAAAAAATTCAACAGTTG	0.378													A	67412553	T	A	67412553	3	1	12	1	0	0	0	0	1	0	0	0	8990	1493	52	5	1942	5	LRRC36	16	67412553	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	93118	67412553	22942200	1031	11039											
EDC4	23644	broad.mit.edu	37	chr16	67909972	67909972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagactggtcttcggaccatGccacccattaacctgcaaga	8	13	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:67909972G>A	uc002eur.2	+	2	373	c.207G>A	c.(205-207)ATG>ATA	p.M69I	EDC4_uc010cer.2_5'UTR|EDC4_uc010vkg.1_Missense_Mutation_p.M1I|EDC4_uc010ces.1_5'Flank|EDC4_uc002eus.2_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	69					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TTCGGACCATGCCACCCATTA	0.522													A	67909972	G	A	67909972	3	1	12	1	0	0	0	0	1	0	0	0	4908	1319	46	2	213	2	EDC4	16	67909972	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	497419	67909972	22444781	1032	11040											
PDPR	55066	broad.mit.edu	37	chr16	70154529	70154529	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgcccacccaggcacaggTggtcatctgtggaggtggaa	14	12	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:70154529T>A	uc002eyf.1	+	3	1091	c.134T>A	c.(133-135)GTG>GAG	p.V45E	CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Intron	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory	45					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.124)		CAGGCACAGGTGGTCATCTGT	0.577													A	70154529	T	A	70154529	3	1	12	1	0	0	0	0	1	0	0	0	11689	1696	59	5	136	5	PDPR	16	70154529	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	2244557	70154529	20200224	1033	11041											
DDX19B	11269	broad.mit.edu	37	chr16	70363885	70363885	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatcaagcagtactatgtcCtgtgcagcagcagagacgag	11	11	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:70363885C>A	uc002eyo.2	+	9	1066	c.937C>A	c.(937-939)CTG>ATG	p.L313M	DDX19B_uc010vly.1_Missense_Mutation_p.L313M|DDX19A_uc002eys.2_Intron|DDX19B_uc010vlv.1_Missense_Mutation_p.L287M|DDX19B_uc010vlw.1_Missense_Mutation_p.L204M|DDX19B_uc002eyp.2_Missense_Mutation_p.L282M|DDX19B_uc002eyq.2_Missense_Mutation_p.L204M|DDX19B_uc002eyr.2_Missense_Mutation_p.L162M|DDX19B_uc010vlx.1_Missense_Mutation_p.L162M|uc002eyt.2_Intron	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform	313	Helicase C-terminal.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			kidney(1)	1		Ovarian(137;0.0694)				GTACTATGTCCTGTGCAGCAG	0.522													A	70363885	C	A	70363885	3	1	12	1	0	0	0	0	1	0	0	0	4347	680	24	5	971	5	DDX19B	16	70363885	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	209356	70363885	19990868	1034	11042											
MARVELD3	91862	broad.mit.edu	37	chr16	71674764	71674764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactgccagctggcaggcaCcgacggagcagcagccacct	14	15	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:71674764C>T	uc002fau.2	+	3	1130	c.1067C>T	c.(1066-1068)ACC>ATC	p.T356I	PHLPP2_uc002fav.2_RNA|MARVELD3_uc010cge.2_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to membrane				skin(1)	1		Ovarian(137;0.125)				CTGGCAGGCACCGACGGAGCA	0.582													T	71674764	C	T	71674764	3	4	12	1	0	0	0	0	1	0	0	0	9319	507	18	4	1692	4	MARVELD3	16	71674764	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1310879	71674764	18679989	1035	11043											
DHX38	9785	broad.mit.edu	37	chr16	72138432	72138432	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcatcgtcacatcagccacGatggatgcggagaagtttgc	11	11	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:72138432G>A	uc002fcb.2	+	15	2413	c.2058G>A	c.(2056-2058)ACG>ACA	p.T686T	DHX38_uc010vmp.1_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	686	Helicase ATP-binding.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)				CATCAGCCACGATGGATGCGG	0.572													A	72138432	G	A	72138432	2	1	12	1	0	0	0	0	0	0	0	1	4511	1045	37	1		1	DHX38	16	72138432	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	463668	72138432	18216321	1036	11044											
ZFHX3	463	broad.mit.edu	37	chr16	72831435	72831435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggatgcaatcatatctgCcagtttcttccgattggcct	8	12	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:72831435C>T	uc002fck.2	-	9	5819	c.5146G>A	c.(5146-5148)GCA>ACA	p.A1716T	ZFHX3_uc002fcl.2_Missense_Mutation_p.A802T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1716					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				ATCATATCTGCCAGTTTCTTC	0.403													T	72831435	C	T	72831435	3	4	12	1	0	0	0	0	1	0	0	0	17631	739	26	2	5973	2	ZFHX3	16	72831435	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	693003	72831435	17523318	1037	11045											
ZFHX3	463	broad.mit.edu	37	chr16	72993844	72993844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcggaggggggcccggcCgacgcggtgctctccgcgag	20	14	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:72993844C>T	uc002fck.2	-	2	874	c.201G>A	c.(199-201)TCG>TCA	p.S67S	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	67					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GGGGCCCGGCCGACGCGGTGC	0.667													T	72993844	C	T	72993844	2	4	12	1	0	0	0	0	0	0	0	1	17631	639	23	1		1	ZFHX3	16	72993844	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	162409	72993844	17360909	1038	11046											
TERF2IP	54386	broad.mit.edu	37	chr16	75690483	75690483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttggtgctcagaatgtagctCggaggattgaatttcgaaag	13	5	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:75690483C>T	uc002fet.1	+	3	1271	c.1174C>T	c.(1174-1176)CGG>TGG	p.R392W		NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting	392	Nuclear localization signal (Potential).				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1						GAATGTAGCTCGGAGGATTGA	0.363													T	75690483	C	T	75690483	3	4	12	1	0	0	0	0	1	0	0	0	15760	875	31	1	1184	1	TERF2IP	16	75690483	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2696639	75690483	14664270	1039	11047											
PKD1L2	114780	broad.mit.edu	37	chr16	81171067	81171067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaacagatgtcctggcagCggggccacagtatcctcctc	10	16	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:81171067C>T	uc002fgh.1	-	34	5694	c.5694G>A	c.(5692-5694)CCG>CCA	p.P1898P	PKD1L2_uc002fgf.1_5'Flank|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1898	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GTCCTGGCAGCGGGGCCACAG	0.597													T	81171067	C	T	81171067	2	4	12	1	0	0	0	0	0	0	0	1	11965	755	27	1		1	PKD1L2	16	81171067	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	5480584	81171067	9183686	1040	11048											
CDH13	1012	broad.mit.edu	37	chr16	83159089	83159089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatcagagacagcctttcCcaagagatgttggcaaggta	11	8	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:83159089C>T	uc002fgx.2	+	4	586	c.466C>T	c.(466-468)CCA>TCA	p.P156S	CDH13_uc010chh.2_Missense_Mutation_p.P156S|CDH13_uc010vns.1_Missense_Mutation_p.P203S|CDH13_uc010vnt.1_5'UTR|CDH13_uc010vnu.1_Intron	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	156	Cadherin 1.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ACAGCCTTTCCCAAGAGATGT	0.393													T	83159089	C	T	83159089	3	4	12	1	0	0	0	0	1	0	0	0	3099	623	22	4	480	4	CDH13	16	83159089	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1988022	83159089	7195664	1041	11049											
KIAA1609	57707	broad.mit.edu	37	chr16	84514303	84514304	+	Frame_Shift_Ins	INS	-	-	C													gcccaaagtaattgtgctgcINSccccccataccctgcaaagg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:84514302_84514303G>GC	uc002fib.3	-	6	1196_1197	c.1089_1090C>GC	c.(1087-1092)gggcagfs	p.G363fs	KIAA1609_uc010vod.2_Frame_Shift_Ins_p.G336fs	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	Homo sapiens KIAA1609 (KIAA1609), mRNA.	363	TLD.						protein binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(2)	18						TAATTGTGCTGCCCCCCCATAC	0.55													C	84514304	-	C	84514303	7	5	12	1	0	1	1	0	0	0	0	0	8247	726	26	0	289	0	KIAA1609	16	84514303	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	1355214	84514303	5840450	1042	11050											
COTL1	23406	broad.mit.edu	37	chr16	84623721	84623721	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactcagtacctgtacgaccTccttcaccagggtcttgtcc	7	15	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:84623721T>C	uc002fid.2	-	3	457	c.308A>G	c.(307-309)GAG>GGG	p.E103G	COTL1_uc002fie.2_Intron|COTL1_uc010chk.2_RNA	NM_021149	NP_066972	Q14019	COTL1_HUMAN	coactosin-like 1	103	ADF-H.					cytoplasm|cytoskeleton	actin binding|enzyme binding			skin(1)	1						CTGTACGACCTCCTTCACCAG	0.532													C	84623721	T	C	84623721	3	2	12	1	0	0	0	0	1	0	0	0	3761	1551	54	3	128	3	COTL1	16	84623721	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	109418	84623721	5731032	1043	11051											
USP10	9100	broad.mit.edu	37	chr16	84778544	84778544	+	Frame_Shift_Del	DEL	A	A	-													aaagggagcgtaaaaagaagAaaaagcggccacctggatat							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:84778543_84778543GA>G	uc010voe.2	+	4	719	c.468_468GA>G	c.(466-468)aagfs	p.K156fs	USP10_uc002fii.3_Frame_Shift_Del_p.K152fs|USP10_uc010vof.2_Intron|USP10_uc002fij.3_5'UTR	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	152					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.P156S(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GTAAAAAGAAGAAAAAGCGGC	0.483													-	84778544	A	-	84778544	7	5	12	1	0	1	0	1	0	0	0	0	17038	247	9	0	471	0	USP10	16	84778544	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	154823	84778544	5576209	1044	11052											
CRISPLD2	83716	broad.mit.edu	37	chr16	84906600	84906600	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcccttcccgccagtcGtctagcatatgccgcgccgc	8	19	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:84906600G>A	uc010voh.1	+	10	1211	c.984G>A	c.(982-984)TCG>TCA	p.S328S	CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fio.2_Silent_p.S327S|CRISPLD2_uc002fim.2_Silent_p.S328S|CRISPLD2_uc002fin.3_Silent_p.S328S	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain	328	LCCL 1.					extracellular region|transport vesicle					0						CCCGCCAGTCGTCTAGCATAT	0.527													A	84906600	G	A	84906600	2	1	12	1	0	0	0	0	0	0	0	1	3883	1132	40	1		1	CRISPLD2	16	84906600	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	128056	84906600	5448153	1045	11053											
COX4I1	1327	broad.mit.edu	37	chr16	85834824	85834824	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagaatgttggctaccAgggtatttagcctagttggc	11	8	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:85834824A>C	uc002fje.2	+	2	177	c.13A>C	c.(13-15)AGG>CGG	p.R5R	COX4NB_uc002fjd.2_5'Flank|COX4NB_uc010vol.1_5'Flank|COX4I1_uc002fjf.2_Silent_p.R5R|COX4I1_uc002fjg.1_Silent_p.R5R|COX4I1_uc010vom.1_5'UTR	NM_001861	NP_001852	P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	5					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding			lung(1)	1		Renal(780;0.228)				GTTGGCTACCAGGGTATTTAG	0.393													C	85834824	A	C	85834824	2	2	12	1	0	0	0	0	0	0	0	1	3769	179	7	5		5	COX4I1	16	85834824	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	928224	85834824	4519929	1046	11054											
TRAPPC2L	51693	broad.mit.edu	37	chr16	88925094	88925094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttccactacatggtgcacaCatctctggacgtggtggatg	12	10	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:88925094C>T	uc002fmc.2	+	2	154	c.101C>T	c.(100-102)ACA>ATA	p.T34I	GALNS_uc002fly.3_5'Flank|GALNS_uc010cid.2_5'Flank|GALNS_uc002flz.3_5'Flank|GALNS_uc002fma.2_5'Flank|TRAPPC2L_uc010cie.2_RNA|TRAPPC2L_uc002fmd.3_Missense_Mutation_p.T34I|TRAPPC2L_uc002fme.3_Missense_Mutation_p.T34I|TRAPPC2L_uc002fmf.2_5'Flank|uc002fmg.2_5'Flank	NM_016209	NP_057293	Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	34					ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm					0				BRCA - Breast invasive adenocarcinoma(80;0.0477)		ATGGTGCACACATCTCTGGAC	0.567													T	88925094	C	T	88925094	3	4	12	1	0	0	0	0	1	0	0	0	16456	478	17	4	107	4	TRAPPC2L	16	88925094	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3090270	88925094	1429659	1047	11055											
FAM101B	359845	broad.mit.edu	37	chr17	293243	293243	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggggcagctgcacgtcgtcGatgaagtgcctctcggagtc	15	11	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:293243G>A	uc002frj.2	-	2	421	c.147C>T	c.(145-147)ATC>ATT	p.I49I		NM_182705	NP_874364	Q8N5W9	F101B_HUMAN	hypothetical protein LOC359845	119											0		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		GCACGTCGTCGATGAAGTGCC	0.662													A	293243	G	A	293243	2	1	12	1	0	0	0	0	0	0	0	1	5381	1048	37	1		1	FAM101B	17	293243	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08		293243	80901967	1048	11056											
SGSM2	9905	broad.mit.edu	37	chr17	2279115	2279115	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaggagaagcctcaggcCggagaactggaggccggaga	17	10	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:2279115C>T	uc002fun.3	+	17	2470	c.2295C>T	c.(2293-2295)GCC>GCT	p.A765A	SGSM2_uc002fum.3_Silent_p.A810A|SGSM2_uc010vqw.1_Silent_p.A765A|SGSM2_uc002fup.1_5'UTR|SGSM2_uc002fuq.2_5'Flank	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	765	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGCCTCAGGCCGGAGAACTGG	0.677													T	2279115	C	T	2279115	2	4	12	1	0	0	0	0	0	0	0	1	14223	639	23	1		1	SGSM2	17	2279115	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1985872	2279115	78916095	1049	11057											
RAP1GAP2	23108	broad.mit.edu	37	chr17	2901577	2901577	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttccaagaggaaaacacGccgtttgtcccagacatgat	8	11	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:2901577G>A	uc010ckd.2	+	14	1197	c.1107G>A	c.(1105-1107)ACG>ACA	p.T369T	RAP1GAP2_uc010cke.2_Silent_p.T354T	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2 isoform 1	369	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			ovary(1)	1						AGGAAAACACGCCGTTTGTCC	0.473													A	2901577	G	A	2901577	2	1	12	1	0	0	0	0	0	0	0	1	13038	1074	38	1		1	RAP1GAP2	17	2901577	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	622462	2901577	78293633	1050	11058											
MYBBP1A	10514	broad.mit.edu	37	chr17	4442989	4442989	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggctccgggtgggggcGccaggggctggactcttggt	21	10	1	0	rs138002559	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:4442989G>A	uc002fyb.3	-	26	3770	c.3708C>T	c.(3706-3708)GGC>GGT	p.G1236G	MYBBP1A_uc002fxz.3_Silent_p.G1236G|SPNS2_uc002fxx.2_3'UTR|SPNS2_uc002fxy.2_3'UTR|MYBBP1A_uc002fya.3_Silent_p.G181G|MYBBP1A_uc010vsa.1_Silent_p.G278G	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	1236	Required for nuclear and nucleolar localization (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						GGGTGGGGGCGCCAGGGGCTG	0.647													A	4442989	G	A	4442989	2	1	12	1	0	0	0	0	0	0	0	1	10008	1074	38	1		1	MYBBP1A	17	4442989	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1541412	4442989	76752221	1051	11059											
PLD2	5338	broad.mit.edu	37	chr17	4726022	4726022	+	Frame_Shift_Del	DEL	C	C	-													agcccttggccacggtcagtCcccccttggctcggtctgag							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:4726021_4726021TC>T	uc002fzc.3	+	24	2790	c.2664_2664TC>T	c.(2662-2664)agtfs	p.S888fs	PLD2_uc002fzd.3_Frame_Shift_Del_p.S877fs	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	888					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CCACGGTCAGTCCCCCCTTGG	0.662													-	4726022	C	-	4726022	7	5	12	1	0	1	0	1	0	0	0	0	12046	855	30	0	2759	0	PLD2	17	4726022	Frame_Shift_Del	DEL	C	TCGA-BR-4257-01A-01D-1126-08	283033	4726022	76469188	1052	11060											
CHD3	1107	broad.mit.edu	37	chr17	7794048	7794048	+	Frame_Shift_Del	DEL	G	G	-													ggaaaaagggggagggagatGgggggcaaaaggtgagtaga							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:7794048delG	uc002gje.2	+	3	523	c.373delG	c.(373-375)GGGfs	p.G125fs	CHD3_uc002gjd.2_Frame_Shift_Del_p.G184fs|CHD3_uc002gjf.2_Frame_Shift_Del_p.G125fs|CHD3_uc002gjg.1_5'Flank	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	125				GEGDGG -> PHFQQK (in Ref. 4; AAC50228).	chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				GGAGGGAGATGGGGGGCAAAA	0.522													-	7794048	G	-	7794048	7	5	12	1	0	1	0	1	0	0	0	0	3326	1348	47	0	664	0	CHD3	17	7794048	Frame_Shift_Del	DEL	G	TCGA-BR-4257-01A-01D-1126-08	3068026	7794048	73401162	1053	11061											
MYH2	4620	broad.mit.edu	37	chr17	10447054	10447054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggagttgtcattcctcaCggtcttggcgttgccaaagg	13	9	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:10447054C>T	uc010coi.2	-	8	843	c.715G>A	c.(715-717)GTG>ATG	p.V239M	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.V239M|MYH2_uc010coj.2_Missense_Mutation_p.V239M	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	239	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						TCATTCCTCACGGTCTTGGCG	0.478													T	10447054	C	T	10447054	3	4	12	1	0	0	0	0	1	0	0	0	10035	536	19	1	5242	1	MYH2	17	10447054	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2653006	10447054	70748156	1054	11062											
DNAH9	1770	broad.mit.edu	37	chr17	11837339	11837339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggagaactgtctttggCcccagggttcccactcccag	11	13	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:11837339C>T	uc002gne.2	+	65	12508	c.12440C>T	c.(12439-12441)GCC>GTC	p.A4147V	DNAH9_uc010coo.2_Missense_Mutation_p.A3365V|DNAH9_uc002gnf.2_Missense_Mutation_p.A459V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	4147					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGTCTTTGGCCCCAGGGTTC	0.517													T	11837339	C	T	11837339	3	4	12	1	0	0	0	0	1	0	0	0	4608	739	26	2	12698	2	DNAH9	17	11837339	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1390285	11837339	69357871	1055	11063											
TTC19	54902	broad.mit.edu	37	chr17	15909838	15909838	+	Frame_Shift_Del	DEL	A	A	-													ctgcatttcaactctagaggAaaaaattgaaagagaaaagg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:15909837_15909837GA>G	uc002gph.2	+	6	1100	c.994_994GA>G	c.(994-996)gaafs	p.E332fs	TTC19_uc021tqp.1_Non-coding_Transcript	NM_017775	NP_060245	Q6DKK2	TTC19_HUMAN	Homo sapiens tetratricopeptide repeat domain 19 (TTC19), transcript variant 1, mRNA.	211					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AACTCTAGAGGAAAAAATTGA	0.348													-	15909838	A	-	15909838	7	5	12	1	0	1	0	1	0	0	0	0	16683	246	9	0	1021	0	TTC19	17	15909838	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	4072499	15909838	65285372	1056	11064											
MYO15A	51168	broad.mit.edu	37	chr17	18023246	18023246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacggagtccactacaccGtcccctatgccgaaggcgtc	9	17	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:18023246G>A	uc010vxh.1	+	2	1470	c.1132G>A	c.(1132-1134)GTC>ATC	p.V378I		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	378	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CCACTACACCGTCCCCTATGC	0.597													A	18023246	G	A	18023246	3	1	12	1	0	0	0	0	1	0	0	0	10063	1145	40	1	1134	1	MYO15A	17	18023246	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2113408	18023246	63171964	1057	11065											
FLII	2314	broad.mit.edu	37	chr17	18151293	18151293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacgctgcttatgttccaCggagagcttgtagttgatct	13	8	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:18151293C>T	uc002gsr.1	-	19	2296	c.2245G>A	c.(2245-2247)GTG>ATG	p.V749M	FLII_uc002gsq.1_Missense_Mutation_p.V620M|FLII_uc010cpy.1_Missense_Mutation_p.V738M|FLII_uc010vxn.1_Missense_Mutation_p.V718M|FLII_uc010vxo.1_Missense_Mutation_p.V694M|FLII_uc002gss.1_Missense_Mutation_p.V748M	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	749	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)					TTATGTTCCACGGAGAGCTTG	0.607											OREG0024225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	18151293	C	T	18151293	3	4	12	1	0	0	0	0	1	0	0	0	5925	536	19	1	1612	1	FLII	17	18151293	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	128047	18151293	63043917	1058	11066											
ALDH3A1	218	broad.mit.edu	37	chr17	19642929	19642929	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acgatgggcagcacaggcccGaagatctcctcttgcatcac	10	14	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:19642929G>T	uc010cqu.2	-	7	1338	c.1008C>A	c.(1006-1008)TTC>TTA	p.F336L	ALDH3A1_uc010vzd.1_Missense_Mutation_p.F336L|ALDH3A1_uc002gwj.2_Missense_Mutation_p.F336L|ALDH3A1_uc010cqv.2_Missense_Mutation_p.F335L|ALDH3A1_uc002gwk.2_Missense_Mutation_p.F453L|ALDH3A1_uc002gwl.1_Missense_Mutation_p.F263L	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3A1	336					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(1)|pancreas(1)	2	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GCACAGGCCCGAAGATCTCCT	0.632													T	19642929	G	T	19642929	3	4	12	1	0	0	0	0	1	0	0	0	497	1049	37	5	369	5	ALDH3A1	17	19642929	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1491636	19642929	61552281	1059	11067											
ALDH3A1	218	broad.mit.edu	37	chr17	19646727	19646727	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttctggatcatgtactcgAtctcctctaggacgtacacc	8	13	4	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:19646727A>G	uc010cqu.2	-	2	542	c.212T>C	c.(211-213)ATC>ACC	p.I71T	ALDH3A1_uc010vzd.1_Missense_Mutation_p.I71T|ALDH3A1_uc002gwj.2_Missense_Mutation_p.I71T|ALDH3A1_uc010cqv.2_Missense_Mutation_p.I71T|ALDH3A1_uc002gwk.2_5'UTR|ALDH3A1_uc002gwl.1_5'UTR	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3A1	71					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(1)|pancreas(1)	2	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CATGTACTCGATCTCCTCTAG	0.612													G	19646727	A	G	19646727	3	3	12	1	0	0	0	0	1	0	0	0	497	333	12	3	1185	3	ALDH3A1	17	19646727	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	3798	19646727	61548483	1060	11068											
AKAP10	11216	broad.mit.edu	37	chr17	19823397	19823397	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagattctcggatgaattGccccaagtcactgactcttc	7	13	4	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:19823397G>A	uc002gwo.2	-	12	1923	c.1786C>T	c.(1786-1788)CAA>TAA	p.Q596*	AKAP10_uc002gwp.1_Nonsense_Mutation_p.Q596*|AKAP10_uc010cqw.1_Nonsense_Mutation_p.Q538*	NM_007202	NP_009133	O43572	AKA10_HUMAN	A-kinase anchor protein 10 precursor	596					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			skin(1)	1	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CGGATGAATTGCCCCAAGTCA	0.343													A	19823397	G	A	19823397	4	1	12	1	0	0	0	0	0	1	0	0	446	1328	46	2	218	2	AKAP10	17	19823397	Nonsense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	176670	19823397	61371813	1061	11069											
NUFIP2	57532	broad.mit.edu	37	chr17	27614342	27614342	+	Frame_Shift_Del	DEL	T	T	-													actattgcgcctagctttccTttttttaggagttgtatatc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:27614341_27614341CT>C	uc002hdy.4	-	1	760	c.671_671AG>G	c.(670-672)aggfs	p.R224fs	NUFIP2_uc002hdx.4_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	224						nucleus|polysomal ribosome	RNA binding|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CCTAGCTTTCCTTTTTTTAGG	0.383													-	27614342	T	-	27614342	7	5	12	1	0	1	0	1	0	0	0	0	10749	1608	56	0	1429	0	NUFIP2	17	27614342	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	7790945	27614342	53580868	1062	11070											
GIT1	28964	broad.mit.edu	37	chr17	27901773	27901773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgcttggcagccttggCgatgtcataggcgcactgga	14	11	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:27901773C>T	uc002hef.2	-	20	2447	c.2233G>A	c.(2233-2235)GCC>ACC	p.A745T	GIT1_uc002heg.2_Missense_Mutation_p.A754T|GIT1_uc010wbg.1_Missense_Mutation_p.A731T|GIT1_uc010csb.1_3'UTR	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interactor 1	745	Interaction with PXN and TGFB1I1 (By similarity).				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding				0				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GCAGCCTTGGCGATGTCATAG	0.627													T	27901773	C	T	27901773	3	4	12	1	0	0	0	0	1	0	0	0	6396	768	27	1	56	1	GIT1	17	27901773	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	287431	27901773	53293437	1063	11071											
SLFN5	162394	broad.mit.edu	37	chr17	33591816	33591816	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttacctggatcagggaagActatcttggctcttaggatc	11	9	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:33591816A>C	uc002hjf.3	+	4	1870	c.1753A>C	c.(1753-1755)ACT>CCT	p.T585P	SLFN5_uc010wcg.1_Intron	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	585	ATP (Potential).				cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ATCAGGGAAGACTATCTTGGC	0.428													C	33591816	A	C	33591816	3	2	12	1	0	0	0	0	1	0	0	0	14737	275	10	5	1763	5	SLFN5	17	33591816	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	5690043	33591816	47603394	1064	11072											
GAS2L2	246176	broad.mit.edu	37	chr17	34072681	34072681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgacttctagcagcttcAtgttgcccaaaatctcctct	5	14	4	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:34072681A>G	uc002hjv.1	-	6	1863	c.1835T>C	c.(1834-1836)ATG>ACG	p.M612T		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	612					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TAGCAGCTTCATGTTGCCCAA	0.607													G	34072681	A	G	34072681	3	3	12	1	0	0	0	0	1	0	0	0	6247	217	8	3	811	3	GAS2L2	17	34072681	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	480865	34072681	47122529	1065	11073											
KRTAP1-5	83895	broad.mit.edu	37	chr17	39182975	39182975	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgggcatggtgcagttGgcagcaggatgggggcgtgc	21	8	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:39182975G>T	uc002hvu.2	-	1	480	c.433C>A	c.(433-435)CAA>AAA	p.Q145K		NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	keratin associated protein 1.5	145	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament					0		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGTGCAGTTGGCAGCAGGAT	0.652													T	39182975	G	T	39182975	3	4	12	1	0	0	0	0	1	0	0	0	8504	1357	47	5	95	5	KRTAP1-5	17	39182975	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	5110294	39182975	42012235	1066	11074											
STAT5B	6777	broad.mit.edu	37	chr17	40359649	40359649	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggccgatcaggaaacacGtagataaggtaattcaagtc	10	7	2	1	rs147503881		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:40359649G>A	uc002hzh.2	-	16	2173	c.2004C>T	c.(2002-2004)TAC>TAT	p.Y668Y		NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	668	SH2.				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)|skin(1)	6		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CAGGAAACACGTAGATAAGGT	0.443													A	40359649	G	A	40359649	2	1	12	1	0	0	0	0	0	0	0	1	15268	1140	40	1		1	STAT5B	17	40359649	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1176674	40359649	40835561	1067	11075											
ITGA2B	3674	broad.mit.edu	37	chr17	42457968	42457968	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccctggagccagtgctcacCtgtacacagccacctggttg	10	16	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:42457968C>A	uc002igt.1	-	14	1471	c.1439G>T	c.(1438-1440)AGA>ATA	p.R480I	ITGA2B_uc002igu.1_5'UTR	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	480	Extracellular (Potential).|FG-GAP 7.				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CAGTGCTCACCTGTACACAGC	0.592													A	42457968	C	A	42457968	3	1	12	1	0	0	0	0	1	0	0	0	7876	695	24	5	1748	5	ITGA2B	17	42457968	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2098319	42457968	38737242	1068	11076											
EFTUD2	9343	broad.mit.edu	37	chr17	42942391	42942391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtcaggtggatgccaagctCgtctagggtccgtgggaggc	17	10	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:42942391C>T	uc002ihn.2	-	14	1453	c.1192G>A	c.(1192-1194)GAG>AAG	p.E398K	EFTUD2_uc010wje.1_Missense_Mutation_p.E363K|EFTUD2_uc010wjf.1_Missense_Mutation_p.E388K	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	398						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				ATGCCAAGCTCGTCTAGGGTC	0.547											OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	42942391	C	T	42942391	3	4	12	1	0	0	0	0	1	0	0	0	4961	893	31	1	1786	1	EFTUD2	17	42942391	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	484423	42942391	38252819	1069	11077											
NMT1	4836	broad.mit.edu	37	chr17	43182260	43182260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaatgcactggatctcAtggagaacaaaaccttcctg	8	10	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:43182260A>G	uc002ihz.2	+	11	1384	c.1366A>G	c.(1366-1368)ATG>GTG	p.M456V	NMT1_uc002iia.2_RNA	NM_021079	NP_066565	P30419	NMT1_HUMAN	N-myristoyltransferase 1	456					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity				0		Prostate(33;0.155)				ACTGGATCTCATGGAGAACAA	0.507													G	43182260	A	G	43182260	3	3	12	1	0	0	0	0	1	0	0	0	10503	217	8	3	1408	3	NMT1	17	43182260	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	239869	43182260	38012950	1070	11078											
LRRC37A2	474170	broad.mit.edu	37	chr17	44626102	44626102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggcatctgtggagaaCgctgccgaagaaaaaaggct	13	10	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:44626102C>T	uc002ikn.1	+	9	3600	c.3597C>T	c.(3595-3597)AAC>AAT	p.N1199N	ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Silent_p.N160N|LRRC37A2_uc010dax.1_Silent_p.N129N	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN	c114 SLIT-like testicular protein precursor	1199	Extracellular (Potential).					integral to membrane					0		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CTGTGGAGAACGCTGCCGAAG	0.587													T	44626102	C	T	44626102	2	4	12	1	0	0	0	0	0	0	0	1	8992	535	19	1		1	LRRC37A2	17	44626102	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1443842	44626102	36569108	1071	11079											
HLF	3131	broad.mit.edu	37	chr17	53392780	53392780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccatgatcaagaaagctcGcaaagtcttcatccctgatg	8	12	3	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:53392780G>A	uc002iug.1	+	3	1169	c.644G>A	c.(643-645)CGC>CAC	p.R215H	HLF_uc010dce.1_Missense_Mutation_p.R130H|HLF_uc002iuh.2_Missense_Mutation_p.R130H|HLF_uc010wni.1_Missense_Mutation_p.R162H	NM_002126	NP_002117	Q16534	HLF_HUMAN	hepatic leukemia factor	215					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						AAGAAAGCTCGCAAAGTCTTC	0.488			T	TCF3	ALL								A	53392780	G	A	53392780	3	1	12	1	0	0	0	0	1	0	0	0	7214	1087	38	1	654	1	HLF	17	53392780	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	8766678	53392780	27802430	1072	11080											
TRIM25	7706	broad.mit.edu	37	chr17	54981777	54981777	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttccttgtcgaggtggtctCtgaggcgtccaagagagcct	13	11	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:54981777C>A	uc002iut.2	-	3	826	c.766G>T	c.(766-768)GAG>TAG	p.E256*	TRIM25_uc010dcj.2_Nonsense_Mutation_p.E48*	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	256	Interaction with influenza A virus NS1.|Potential.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)					GAGGTGGTCTCTGAGGCGTCC	0.463													A	54981777	C	A	54981777	4	1	12	1	0	0	0	0	0	1	0	0	16496	922	32	5	1154	5	TRIM25	17	54981777	Nonsense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1588997	54981777	26213433	1073	11081											
MSI2	124540	broad.mit.edu	37	chr17	55752431	55752431	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaggactccggagtggggAattacataagtgcggccagc	15	10	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:55752431A>G	uc002iuz.1	+	12	1062	c.889A>G	c.(889-891)AAT>GAT	p.N297D	MSI2_uc010wnm.1_Missense_Mutation_p.N293D	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN	musashi 2 isoform a	297						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|pancreas(1)	2	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		CGGAGTGGGGAATTACATAAG	0.682			T	HOXA9	CML								G	55752431	A	G	55752431	3	3	12	1	0	0	0	0	1	0	0	0	9876	246	9	3	1030	3	MSI2	17	55752431	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	770654	55752431	25442779	1074	11082											
DDX42	11325	broad.mit.edu	37	chr17	61895288	61895288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgacctacccgtctgccGgagcccaaggagtcaacaac	10	15	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:61895288G>A	uc002jbu.2	+	19	2604	c.2347G>A	c.(2347-2349)GGA>AGA	p.G783R	DDX42_uc002jbv.2_Missense_Mutation_p.G783R|DDX42_uc002jbx.2_Missense_Mutation_p.G519R|DDX42_uc002jby.2_Missense_Mutation_p.G329R|DDX42_uc010wps.1_Missense_Mutation_p.G151R	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	783	Gly-rich.|Necessary for interaction with TP53BP2.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)|large_intestine(1)	5						CCCGTCTGCCGGAGCCCAAGG	0.582													A	61895288	G	A	61895288	3	1	12	1	0	0	0	0	1	0	0	0	4362	1117	39	1	2413	1	DDX42	17	61895288	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	6142857	61895288	19299922	1075	11083											
SCN4A	6329	broad.mit.edu	37	chr17	62020337	62020337	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaggatgtccaccttgagCtggctctggttgtctgtctc	11	11	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:62020337C>T	uc002jds.1	-	23	4214	c.4137G>A	c.(4135-4137)CAG>CAA	p.Q1379Q		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1379	IV.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	CCACCTTGAGCTGGCTCTGGT	0.512													T	62020337	C	T	62020337	2	4	12	1	0	0	0	0	0	0	0	1	13920	796	28	2		2	SCN4A	17	62020337	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	125049	62020337	19174873	1076	11084											
ERN1	2081	broad.mit.edu	37	chr17	62141446	62141446	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtgatcacacactccccCttgtccccaatggtgacgcc	9	17	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:62141446C>T	uc002jdz.2	-	10	1100	c.987G>A	c.(985-987)AAG>AAA	p.K329K		NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	329	Lumenal (Potential).				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						CACACTCCCCCTTGTCCCCAA	0.572											OREG0024657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	62141446	C	T	62141446	2	4	12	1	0	0	0	0	0	0	0	1	5237	680	24	4		4	ERN1	17	62141446	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	121109	62141446	19053764	1077	11085											
AXIN2	8313	broad.mit.edu	37	chr17	63526100	63526100	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagaccccagggctcaatcGatccgctccactttgcccag	8	18	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:63526100G>A	uc002jfi.2	-	11	2815	c.2526C>T	c.(2524-2526)ATC>ATT	p.I842I	AXIN2_uc002jfh.2_Silent_p.I777I	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	842	DIX.				cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						GGGCTCAATCGATCCGCTCCA	0.537									Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				A	63526100	G	A	63526100	2	1	12	1	0	0	0	0	0	0	0	1	1237	1048	37	1		1	AXIN2	17	63526100	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1384654	63526100	17669110	1078	11086											
ABCA6	23460	broad.mit.edu	37	chr17	67125775	67125775	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gataagccatataaaaaaaaGagtataaatatgaccatgaa	6	4	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:67125775G>A	uc002jhw.1	-	7	1084	c.909C>T	c.(907-909)CTC>CTT	p.L303L		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	303	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					ATAAAAAAAAGAGTATAAATA	0.303													A	67125775	G	A	67125775	2	1	12	1	0	0	0	0	0	0	0	1	36	929	33	4		4	ABCA6	17	67125775	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	3599675	67125775	14069435	1079	11087											
ABCA10	10349	broad.mit.edu	37	chr17	67178424	67178424	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tattacacgcaacagaaaatCtgtaatccttgaaaaaaagt	5	7	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:67178424C>A	uc010dfa.1	-	23	3518	c.2639G>T	c.(2638-2640)AGA>ATA	p.R880I	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.R481I	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	880					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					AACAGAAAATCTGTAATCCTT	0.284													A	67178424	C	A	67178424	3	1	12	1	0	0	0	0	1	0	0	0	29	913	32	5	2064	5	ABCA10	17	67178424	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	52649	67178424	14016786	1080	11088											
ABCA10	10349	broad.mit.edu	37	chr17	67221504	67221504	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggccatcttattcattatcCtttgtgttatgttactgact	6	8	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:67221504C>A	uc010dfa.1	-	4	875	c.-4G>T	c.(-6--2)AAGGA>AATGA		ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfc.1_Translation_Start_Site	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10						transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					ATTCATTATCCTTTGTGTTAT	0.393													A	67221504	C	A	67221504	1	1	12	1	0	0	0	0	0	0	0	0	29	696	24	5		5	ABCA10	17	67221504	Translation_Start_Site	SNP	C	TCGA-BR-4257-01A-01D-1126-08	43080	67221504	13973706	1081	11089											
KCNJ2	3759	broad.mit.edu	37	chr17	68171712	68171712	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgatgctttcatcattggcGcagtcatggccaagatggca	11	10	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:68171712G>T	uc010dfg.2	+	2	933	c.532G>T	c.(532-534)GCA>TCA	p.A178S	KCNJ2_uc002jir.2_Missense_Mutation_p.A178S	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	178	Helical; Name=M2; (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)					CATCATTGGCGCAGTCATGGC	0.478													T	68171712	G	T	68171712	3	4	12	1	0	0	0	0	1	0	0	0	8051	1087	38	5	534	5	KCNJ2	17	68171712	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	950208	68171712	13023498	1082	11090											
CD300LF	146722	broad.mit.edu	37	chr17	72700850	72700850	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcgacaccaccacttcAagtaggtctcccagcctgat	6	17	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:72700850A>G	uc002jlg.2	-	2	252	c.149T>C	c.(148-150)TTG>TCG	p.L50S	RAB37_uc002jlc.2_Intron|RAB37_uc010dfu.2_Intron|RAB37_uc002jld.2_Intron|CD300LF_uc002jlf.2_Missense_Mutation_p.L53S|CD300LF_uc010dfw.2_RNA|CD300LF_uc002jlh.2_Missense_Mutation_p.L50S|CD300LF_uc002jli.2_Missense_Mutation_p.L53S|CD300LF_uc010wra.1_Missense_Mutation_p.L50S|CD300LF_uc002jlj.1_Missense_Mutation_p.L53S	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN	NK inhibitory receptor precursor	50	Ig-like V-type.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			upper_aerodigestive_tract(1)	1						CCACCACTTCAAGTAGGTCTC	0.532													G	72700850	A	G	72700850	3	3	12	1	0	0	0	0	1	0	0	0	3001	131	5	3	747	3	CD300LF	17	72700850	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	4529138	72700850	8494360	1083	11091											
GRB2	2885	broad.mit.edu	37	chr17	73389634	73389634	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcatcagcacttacctTgaggatgtccccccttttga	8	14	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:73389634T>C	uc002jnx.3	-	2	433	c.76A>G	c.(76-78)AAG>GAG	p.K26E	GRB2_uc002jny.3_Missense_Mutation_p.K26E	NM_002086	NP_002077	P62993	GRB2_HUMAN	growth factor receptor-bound protein 2 isoform	26	SH3 1.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			ovary(3)	3	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	GCACTTACCTTGAGGATGTCC	0.507													C	73389634	T	C	73389634	3	2	12	1	0	0	0	0	1	0	0	0	6758	1821	63	3	597	3	GRB2	17	73389634	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	688784	73389634	7805576	1084	11092											
EVPL	2125	broad.mit.edu	37	chr17	74004745	74004745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtagatggtcttctcctgcGatttggctttctggaggacg	13	8	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:74004745G>A	uc002jqi.2	-	22	4769	c.4541C>T	c.(4540-4542)TCG>TTG	p.S1514L	EVPL_uc010wss.1_Missense_Mutation_p.S1536L|EVPL_uc010wst.1_Missense_Mutation_p.S984L	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1514	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CTTCTCCTGCGATTTGGCTTT	0.597													A	74004745	G	A	74004745	3	1	12	1	0	0	0	0	1	0	0	0	5292	1059	37	1	1564	1	EVPL	17	74004745	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	615111	74004745	7190465	1085	11093											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74625570	74625570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccatgctgccctctgtgCtgtgtggggcaccttgtcct	11	14	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:74625570C>T	uc002jsh.2	-	2	529	c.355G>A	c.(355-357)GCA>ACA	p.A119T	ST6GALNAC1_uc002jsi.2_5'UTR|ST6GALNAC1_uc002jsj.2_RNA	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	sialyltransferase 7A	119	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity				0						GCCCTCTGTGCTGTGTGGGGC	0.597													T	74625570	C	T	74625570	3	4	12	1	0	0	0	0	1	0	0	0	15222	797	28	2	1479	2	ST6GALNAC1	17	74625570	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	620825	74625570	6569640	1086	11094											
ENPP7	339221	broad.mit.edu	37	chr17	77705066	77705066	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggacacccccaacctggaCgccatggcccgagacggggt	14	15	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:77705066C>T	uc002jxa.2	+	1	185	c.165C>T	c.(163-165)GAC>GAT	p.D55D		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	55					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCAACCTGGACGCCATGGCCC	0.627													T	77705066	C	T	77705066	2	4	12	1	0	0	0	0	0	0	0	1	5135	535	19	1		1	ENPP7	17	77705066	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3079496	77705066	3490144	1087	11095											
RPTOR	57521	broad.mit.edu	37	chr17	78865556	78865556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagtcatcttgtggttcagTatgaaagcaatttctgcacc	9	8	4	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:78865556T>C	uc002jyt.1	+	18	2825	c.2020T>C	c.(2020-2022)TAT>CAT	p.Y674H	RPTOR_uc010wug.1_Missense_Mutation_p.Y516H	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	674					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						TGTGGTTCAGTATGAAAGCAA	0.517													C	78865556	T	C	78865556	3	2	12	1	0	0	0	0	1	0	0	0	13665	1638	57	3	2090	3	RPTOR	17	78865556	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1160490	78865556	2329654	1088	11096											
RPTOR	57521	broad.mit.edu	37	chr17	78882649	78882649	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttacactcagatttggagaGtcctgctgcacctggctgct	10	11	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:78882649G>T	uc002jyt.1	+	21	3245	c.2440G>T	c.(2440-2442)GTC>TTC	p.V814F	RPTOR_uc010wug.1_Missense_Mutation_p.V656F	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	814					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						GATTTGGAGAGTCCTGCTGCA	0.527													T	78882649	G	T	78882649	3	4	12	1	0	0	0	0	1	0	0	0	13665	1029	36	5	2522	5	RPTOR	17	78882649	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	17093	78882649	2312561	1089	11097											
BAHCC1	57597	broad.mit.edu	37	chr17	79430712	79430712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagtgccaggtcgtggcgCgcgagcagtatgagcagatg	16	9	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:79430712C>T	uc002kaf.2	+	26	7696	c.7696C>T	c.(7696-7698)CGC>TGC	p.R2566C		NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BAH domain and coiled-coil containing 1	2566	BAH.						DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			GGTCGTGGCGCGCGAGCAGTA	0.672													T	79430712	C	T	79430712	3	4	12	1	0	0	0	0	1	0	0	0	1296	768	27	1	7637	1	BAHCC1	17	79430712	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	548063	79430712	1764498	1090	11098											
LRRC45	201255	broad.mit.edu	37	chr17	79984832	79984832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccaggagaaccaagcccGcactcacgtcctcagcaagg	9	16	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:79984832G>A	uc002kde.2	+	6	959	c.719G>A	c.(718-720)CGC>CAC	p.R240H		NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	240						centrosome				pancreas(1)	1	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AACCAAGCCCGCACTCACGTC	0.542													A	79984832	G	A	79984832	3	1	12	1	0	0	0	0	1	0	0	0	9002	1087	38	1	741	1	LRRC45	17	79984832	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	554120	79984832	1210378	1091	11099											
UTS2R	2837	broad.mit.edu	37	chr17	80332642	80332642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccgtcatgagcagcgagCgctacgctgcggtgctgcgg	16	12	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:80332642C>T	uc010wvl.1	+	1	442	c.442C>T	c.(442-444)CGC>TGC	p.R148C		NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	148	Cytoplasmic (Potential).					integral to membrane|plasma membrane				breast(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GAGCAGCGAGCGCTACGCTGC	0.692													T	80332642	C	T	80332642	3	4	12	1	0	0	0	0	1	0	0	0	17103	768	27	1	444	1	UTS2R	17	80332642	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	347810	80332642	862568	1092	11100											
FOXK2	3607	broad.mit.edu	37	chr17	80529613	80529613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatacaggatgattcaaagcCgccttactcctacgcgcagc	8	13	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:80529613C>T	uc002kfn.2	+	4	947	c.776C>T	c.(775-777)CCG>CTG	p.P259L	FOXK2_uc002kfm.1_Missense_Mutation_p.P259L|FOXK2_uc010diu.2_Missense_Mutation_p.P259L	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	forkhead box K2	259	Fork-head.				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			GATTCAAAGCCGCCTTACTCC	0.363													T	80529613	C	T	80529613	3	4	12	1	0	0	0	0	1	0	0	0	6015	652	23	1	790	1	FOXK2	17	80529613	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	196971	80529613	665597	1093	11101											
EPB41L3	23136	broad.mit.edu	37	chr18	5396200	5396200	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcacagaatatctcacCtgtgatgattcatatgtgat	7	8	4	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:5396200C>A	uc002kmt.1	-	19	3059	c.2973G>T	c.(2971-2973)CAG>CAT	p.Q991H	EPB41L3_uc010wzh.1_Missense_Mutation_p.Q822H|EPB41L3_uc002kmu.1_Missense_Mutation_p.Q769H|EPB41L3_uc010dkq.1_Missense_Mutation_p.Q660H|EPB41L3_uc002kms.1_Missense_Mutation_p.Q226H|EPB41L3_uc010wze.1_Missense_Mutation_p.Q296H|EPB41L3_uc010wzf.1_Missense_Mutation_p.Q288H|EPB41L3_uc010wzg.1_Missense_Mutation_p.Q263H|EPB41L3_uc010dkr.2_Missense_Mutation_p.Q383H	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	991	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						AATATCTCACCTGTGATGATT	0.438													A	5396200	C	A	5396200	3	1	12	1	0	0	0	0	1	0	0	0	5154	695	24	5	306	5	EPB41L3	18	5396200	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08		5396200	72681048	1094	11102											
CIDEA	1149	broad.mit.edu	37	chr18	12274164	12274164	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaccttcgacttgtacAggctgaaccccaaggacttc	9	13	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:12274164A>G	uc002kqt.3	+	4	468	c.403A>G	c.(403-405)AGG>GGG	p.R135G	CIDEA_uc002kqu.3_Missense_Mutation_p.R169G|CIDEA_uc010dlc.2_RNA	NM_001279	NP_001270	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a isoform	135					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			ovary(1)|central_nervous_system(1)	2						CGACTTGTACAGGCTGAACCC	0.597													G	12274164	A	G	12274164	3	3	12	1	0	0	0	0	1	0	0	0	3425	179	7	3	561	3	CIDEA	18	12274164	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	6877964	12274164	65803084	1095	11103											
TUBB6	84617	broad.mit.edu	37	chr18	12325150	12325150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagtgctggacgtggtgcGgaaggagtgcgagcactgcg	19	9	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:12325150G>A	uc002kqw.2	+	4	407	c.362G>A	c.(361-363)CGG>CAG	p.R121Q	TUBB6_uc002kqv.2_Missense_Mutation_p.R49Q|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Missense_Mutation_p.R84Q|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	121					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)		GACGTGGTGCGGAAGGAGTGC	0.662													A	12325150	G	A	12325150	3	1	12	1	0	0	0	0	1	0	0	0	16757	1116	39	1	376	1	TUBB6	18	12325150	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	50986	12325150	65752098	1096	11104											
DSG3	1830	broad.mit.edu	37	chr18	29044085	29044085	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctccaggctctagattaTgaacaactacaaagcgtgaa	7	9	2	3	rs113083364		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:29044085T>C	uc002kws.2	+	9	1120	c.1011T>C	c.(1009-1011)TAT>TAC	p.Y337Y		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	337	Cadherin 3.|Extracellular (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTCTAGATTATGAACAACTAC	0.393													C	29044085	T	C	29044085	2	2	12	1	0	0	0	0	0	0	0	1	4778	1471	51	3		3	DSG3	18	29044085	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	16718935	29044085	49033163	1097	11105											
SETBP1	26040	broad.mit.edu	37	chr18	42281525	42281525	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggcgggatgtggattccAactccaacgcggacagtgag	15	10	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:42281525A>C	uc010dni.2	+	2	510	c.214A>C	c.(214-216)AAC>CAC	p.N72H	SETBP1_uc002lay.2_Missense_Mutation_p.N72H	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	72						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGTGGATTCCAACTCCAACGC	0.567									Schinzel-Giedion_syndrome				C	42281525	A	C	42281525	3	2	12	1	0	0	0	0	1	0	0	0	14129	130	5	5	216	5	SETBP1	18	42281525	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	13237440	42281525	35795723	1098	11106											
SETBP1	26040	broad.mit.edu	37	chr18	42530560	42530561	+	Frame_Shift_Ins	INS	-	-	A													tccaaccaaccataagaggaINSaaaaaagacagtccattaaa							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:42530559_42530560G>GA	uc010dni.3	+	3	1550_1551	c.1254_1255G>GA	c.(1252-1257)aggaaafs	p.R418fs		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	418						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACCATAAGAGGAAAAAAAGACA	0.45									Schinzel-Giedion syndrome				A	42530561	-	A	42530560	7	5	12	1	0	1	1	0	0	0	0	0	14129	247	9	0	1458	0	SETBP1	18	42530560	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	249035	42530560	35546688	1099	11107											
SLC14A2	8170	broad.mit.edu	37	chr18	43253755	43253755	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttctacgtcatcacctggCagacgcacctcctcgccatc	7	17	3	1	rs151319242		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:43253755C>T	uc010dnj.2	+	19	2806	c.2485C>T	c.(2485-2487)CAG>TAG	p.Q829*	SLC14A2_uc002lbe.2_Nonsense_Mutation_p.Q829*	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	829						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						CATCACCTGGCAGACGCACCT	0.478													T	43253755	C	T	43253755	4	4	12	1	0	0	0	0	0	1	0	0	14397	711	25	2	2551	2	SLC14A2	18	43253755	Nonsense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	723195	43253755	34823493	1100	11108											
TCEB3B	51224	broad.mit.edu	37	chr18	44561289	44561289	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgggctcctgggggccgtcGcgttttctgggaagccccag	16	12	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:44561289G>T	uc002lcr.1	-	1	700	c.347C>A	c.(346-348)GCG>GAG	p.A116E	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	116					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GGGGGCCGTCGCGTTTTCTGG	0.662													T	44561289	G	T	44561289	3	4	12	1	0	0	0	0	1	0	0	0	15679	1087	38	5	1918	5	TCEB3B	18	44561289	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1307534	44561289	33515959	1101	11109											
HDHD2	84064	broad.mit.edu	37	chr18	44662713	44662713	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctggaggatagcttgccttTtaagagcttcctgtgcgcct	11	11	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:44662713T>A	uc002lcs.2	-	2	231	c.98A>T	c.(97-99)AAA>ATA	p.K33I	HDHD2_uc002lct.2_5'UTR	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain	33							hydrolase activity				0						AGCTTGCCTTTTAAGAGCTTC	0.458													A	44662713	T	A	44662713	3	1	12	1	0	0	0	0	1	0	0	0	7023	1841	64	5	705	5	HDHD2	18	44662713	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	101424	44662713	33414535	1102	11110											
DYM	54808	broad.mit.edu	37	chr18	46956658	46956658	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggaaagaaaatgagagaAgctgattccagaacgggtca	13	6	1	5			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:46956658A>C	uc002ldi.1	-	2	472	c.107T>G	c.(106-108)CTT>CGT	p.L36R	DYM_uc010xdf.1_Missense_Mutation_p.L36R	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	dymeclin	36						Golgi apparatus					0						AAATGAGAGAAGCTGATTCCA	0.418													C	46956658	A	C	46956658	3	2	12	1	0	0	0	0	1	0	0	0	4840	72	3	5	1966	5	DYM	18	46956658	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2293945	46956658	31120590	1103	11111											
CXXC1	30827	broad.mit.edu	37	chr18	47811481	47811481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtagcctcaggaggcTccttgactgttgatgacgcc	13	11	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:47811481T>C	uc002leq.3	-	7	1536	c.803A>G	c.(802-804)GAG>GGG	p.E268G	CXXC1_uc002lep.3_Missense_Mutation_p.E125G|CXXC1_uc002ler.3_Missense_Mutation_p.E268G|CXXC1_uc010doy.2_Missense_Mutation_p.E268G|CXXC1_uc002les.2_Missense_Mutation_p.E268G	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	268	Asp/Glu-rich (acidic).				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CTCAGGAGGCTCCTTGACTGT	0.597													C	47811481	T	C	47811481	3	2	12	1	0	0	0	0	1	0	0	0	4097	1551	54	3	1215	3	CXXC1	18	47811481	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	854823	47811481	30265767	1104	11112											
MAPK4	5596	broad.mit.edu	37	chr18	48241512	48241512	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgactgctcctttcccccAataactacaccaaagccatc	3	18	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:48241512A>G	uc002lev.2	+	3	1610	c.610A>G	c.(610-612)AAT>GAT	p.N204D	MAPK4_uc010xdm.1_5'UTR|MAPK4_uc010doz.2_Missense_Mutation_p.N204D	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	204	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)		CCTTTCCCCCAATAACTACAC	0.507													G	48241512	A	G	48241512	3	3	12	1	0	0	0	0	1	0	0	0	9280	130	5	3	616	3	MAPK4	18	48241512	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	430031	48241512	29835736	1105	11113											
FECH	2235	broad.mit.edu	37	chr18	55233706	55233706	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagctgtactgtggatActgtgtgaaagcaatagccc	13	8	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:55233706A>G	uc002lgq.3	-	5	688	c.571T>C	c.(571-573)TAT>CAT	p.Y191H	FECH_uc002lgp.3_Missense_Mutation_p.Y197H|FECH_uc002lgr.3_Missense_Mutation_p.Y49H	NM_000140	NP_000131	P22830	HEMH_HUMAN	ferrochelatase isoform b precursor	191			Y -> H (in EPP; enzyme retains 72% of activity).		generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)	1		Colorectal(73;0.227)				TACTGTGGATACTGTGTGAAA	0.443													G	55233706	A	G	55233706	3	3	12	1	0	0	0	0	1	0	0	0	5808	391	14	3	728	3	FECH	18	55233706	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	6992194	55233706	22843542	1106	11114											
ATP8B1	5205	broad.mit.edu	37	chr18	55335683	55335683	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttttgtctccagtaagcacCcagatcttaatgtcagcttt	6	10	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:55335683C>G	uc002lgw.2	-	18	2187	c.2187G>C	c.(2185-2187)TGG>TGC	p.W729C	uc002lgu.1_RNA|uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	729	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				CAGTAAGCACCCAGATCTTAA	0.408									Byler_disease				G	55335683	C	G	55335683	3	3	12	1	0	0	0	0	1	0	0	0	1194	624	22	5	1608	5	ATP8B1	18	55335683	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	101977	55335683	22741565	1107	11115											
CDH20	28316	broad.mit.edu	37	chr18	59221533	59221533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacgacgacgagggcggcGgcgaggaggacaccgaggcc	19	12	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:59221533G>A	uc010dps.1	+	11	2023	c.2011G>A	c.(2011-2013)GGC>AGC	p.G671S	CDH20_uc002lif.2_Missense_Mutation_p.G665S	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	671	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				CGAGGGCGGCGGCGAGGAGGA	0.652													A	59221533	G	A	59221533	3	1	12	1	0	0	0	0	1	0	0	0	3106	1116	39	1	2053	1	CDH20	18	59221533	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	3885850	59221533	18855715	1108	11116											
SERPINB5	5268	broad.mit.edu	37	chr18	61154235	61154235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatttcaaacagtaacatcGgatgtaaacaaacttagttc	7	7	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:61154235G>A	uc002liz.3	+	3	367	c.225G>A	c.(223-225)TCG>TCA	p.S75S	SERPINB5_uc002liy.2_Silent_p.S75S	NM_002639	NP_002630	P36952	SPB5_HUMAN	serine (or cysteine) proteinase inhibitor, clade	75					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)	1						CAGTAACATCGGATGTAAACA	0.358													A	61154235	G	A	61154235	2	1	12	1	0	0	0	0	0	0	0	1	14104	1103	39	1		1	SERPINB5	18	61154235	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1932702	61154235	16923013	1109	11117											
SERPINB13	5275	broad.mit.edu	37	chr18	61260166	61260166	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaatgcagccgatgaaagtCgaaagaagattaattcctgg	10	6	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:61260166C>T	uc002ljc.2	+	5	601	c.433C>T	c.(433-435)CGA>TGA	p.R145*	SERPINB13_uc002ljd.2_5'UTR|SERPINB13_uc010xep.1_Nonsense_Mutation_p.R154*|SERPINB13_uc010xeq.1_Intron|SERPINB13_uc010xer.1_Intron	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	serine (or cysteine) proteinase inhibitor, clade	145					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1						CGATGAAAGTCGAAAGAAGAT	0.323													T	61260166	C	T	61260166	4	4	12	1	0	0	0	0	0	1	0	0	14100	876	31	1	447	1	SERPINB13	18	61260166	Nonsense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	105931	61260166	16817082	1110	11118											
RTTN	25914	broad.mit.edu	37	chr18	67806936	67806936	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagtgtgaggcatggttgtAccaaacattctacaacctgg	11	8	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:67806936A>G	uc002lkp.2	-	21	2755	c.2687T>C	c.(2686-2688)GTA>GCA	p.V896A	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	896							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				GCATGGTTGTACCAAACATTC	0.413													G	67806936	A	G	67806936	3	3	12	1	0	0	0	0	1	0	0	0	13737	391	14	3	4109	3	RTTN	18	67806936	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	6546770	67806936	10270312	1111	11119											
CNDP2	55748	broad.mit.edu	37	chr18	72178084	72178084	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgattctgcctcgaaggcAtggaggagtcaggctctgag	14	10	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:72178084A>G	uc002llm.1	+	6	655	c.493A>G	c.(493-495)ATG>GTG	p.M165V	CNDP2_uc002lln.1_Missense_Mutation_p.M81V|CNDP2_uc010dqs.2_Missense_Mutation_p.M1V	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2	165						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			ovary(2)|skin(1)	3		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CCTCGAAGGCATGGAGGAGTC	0.493													G	72178084	A	G	72178084	3	3	12	1	0	0	0	0	1	0	0	0	3594	217	8	3	511	3	CNDP2	18	72178084	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	4371148	72178084	5899164	1112	11120											
TSHZ1	10194	broad.mit.edu	37	chr18	72998529	72998529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaagcagcgaacccgtaCgtcacgcccaataaccgcta	8	15	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:72998529C>T	uc002lly.2	+	2	1595	c.1032C>T	c.(1030-1032)TAC>TAT	p.Y344Y		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	389						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CGAACCCGTACGTCACGCCCA	0.617													T	72998529	C	T	72998529	2	4	12	1	0	0	0	0	0	0	0	1	16620	547	19	1		1	TSHZ1	18	72998529	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	820445	72998529	5078719	1113	11121											
TSHZ1	10194	broad.mit.edu	37	chr18	73000349	73000349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagacacacttgggcttcaGcctgaaggatctctccaagc	11	12	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:73000349G>A	uc002lly.2	+	2	3415	c.2852G>A	c.(2851-2853)AGC>AAC	p.S951N		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	996						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TTGGGCTTCAGCCTGAAGGAT	0.488													A	73000349	G	A	73000349	3	1	12	1	0	0	0	0	1	0	0	0	16620	971	34	2	2854	2	TSHZ1	18	73000349	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1820	73000349	5076899	1114	11122											
ZNF236	7776	broad.mit.edu	37	chr18	74563868	74563868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtggctagtctcaaagcGcatattatgctacatgaaaa	9	7	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:74563868G>A	uc002lmi.2	+	3	528	c.330G>A	c.(328-330)GCG>GCA	p.A110A	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Silent_p.A110A	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	110	C2H2-type 3.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GTCTCAAAGCGCATATTATGC	0.393													A	74563868	G	A	74563868	2	1	12	1	0	0	0	0	0	0	0	1	17786	1074	38	1		1	ZNF236	18	74563868	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1563519	74563868	3513380	1115	11123											
CTDP1	9150	broad.mit.edu	37	chr18	77475147	77475147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagtcacagaacagcgagCtgtcgggggtcactgcgggt	16	11	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:77475147C>T	uc002lnh.1	+	8	1834	c.1687C>T	c.(1687-1689)CTG>TTG	p.L563L	CTDP1_uc002lni.1_Silent_p.L563L|CTDP1_uc010drd.1_Silent_p.L563L	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	563					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GAACAGCGAGCTGTCGGGGGT	0.587													T	77475147	C	T	77475147	2	4	12	1	0	0	0	0	0	0	0	1	4002	796	28	2		2	CTDP1	18	77475147	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2911279	77475147	602101	1116	11124											
ADNP2	22850	broad.mit.edu	37	chr18	77894088	77894088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggactcttgaagcaaacGcacattgctccaaaaccagc	7	13	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:77894088G>A	uc002lnw.2	+	4	1247	c.792G>A	c.(790-792)ACG>ACA	p.T264T		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	264					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TGAAGCAAACGCACATTGCTC	0.463													A	77894088	G	A	77894088	2	1	12	1	0	0	0	0	0	0	0	1	324	1074	38	1		1	ADNP2	18	77894088	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	418941	77894088	183160	1117	11125											
ADNP2	22850	broad.mit.edu	37	chr18	77894778	77894778	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgggccagacagctccGtcacgggttcttcccccagg	12	16	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:77894778G>A	uc002lnw.2	+	4	1937	c.1482G>A	c.(1480-1482)CCG>CCA	p.P494P		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	494					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AGACAGCTCCGTCACGGGTTC	0.597													A	77894778	G	A	77894778	2	1	12	1	0	0	0	0	0	0	0	1	324	1132	40	1		1	ADNP2	18	77894778	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	690	77894778	182470	1118	11126											
JSRP1	126306	broad.mit.edu	37	chr19	2254215	2254215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcagcctctccttccccGttcctggggtccccctggcg	9	19	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:2254215G>A	uc002lvi.1	-	3	268	c.233C>T	c.(232-234)ACG>ATG	p.T78M	JSRP1_uc002lvj.1_Missense_Mutation_p.T78M	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	78						sarcoplasmic reticulum membrane				pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTTCCCCGTTCCTGGGGT	0.627											OREG0025137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	2254215	G	A	2254215	3	1	12	1	0	0	0	0	1	0	0	0	7966	1145	40	1	778	1	JSRP1	19	2254215	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08		2254215	56874768	1119	11127											
SLC39A3	29985	broad.mit.edu	37	chr19	2737214	2737214	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcatgaagaagaacacGcccaccatgcacaggatttt	9	11	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:2737214G>A	uc002lwg.2	-	2	296	c.42C>T	c.(40-42)GGC>GGT	p.G14G	SLC39A3_uc010xgy.1_Silent_p.G14G|SLC39A3_uc002lwh.2_Silent_p.G14G	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter),	14	Helical; (Potential).					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAGAACACGCCCACCATGC	0.562													A	2737214	G	A	2737214	2	1	12	1	0	0	0	0	0	0	0	1	14619	1074	38	1		1	SLC39A3	19	2737214	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	482999	2737214	56391769	1120	11128											
ZNF554	115196	broad.mit.edu	37	chr19	2833886	2833886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcaggagaaggctactgCatggcatggatttggggaaa	14	7	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:2833886C>T	uc002lwm.2	+	5	851	c.653C>T	c.(652-654)GCA>GTA	p.A218V	ZNF554_uc002lwl.2_Missense_Mutation_p.A167V	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGCTACTGCATGGCATGGA	0.512													T	2833886	C	T	2833886	3	4	12	1	0	0	0	0	1	0	0	0	17982	710	25	2	671	2	ZNF554	19	2833886	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	96672	2833886	56295097	1121	11129											
ZNF556	80032	broad.mit.edu	37	chr19	2877814	2877814	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcacgccggagggagaccGtatgagtgcaagcagtgtgg	17	8	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:2877814G>A	uc002lwp.1	+	4	945	c.858G>A	c.(856-858)CCG>CCA	p.P286P	ZNF556_uc002lwq.2_Silent_p.P285P	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGGAGACCGTATGAGTGCA	0.517													A	2877814	G	A	2877814	2	1	12	1	0	0	0	0	0	0	0	1	17984	1132	40	1		1	ZNF556	19	2877814	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	43928	2877814	56251169	1122	11130											
TLE2	7089	broad.mit.edu	37	chr19	3028804	3028804	+	Splice_Site	DEL	G	G	-													gccggactggagcggggtctGgggggggtgtgggggaaacg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:3028803_3028803TG>T	uc010dth.3	-	2	288	c.25_splice	c.e2-1	p.T9_splice	TLE2_uc002lww.3_Splice_Site_p.T9_splice|TLE2_uc010xhc.2_Splice_Site|TLE2_uc010dti.3_Splice_Site_p.T22_splice|TLE2_uc010xhd.1_Splice_Site_p.T9_splice	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	9	Gln-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCGGGGTCTGGGGGGGGTG	0.622													-	3028804	G	-	3028804	8	5	12	1	0	1	0	1	0	0	1	0	15936	1363	47	0		0	TLE2	19	3028804	Splice_Site	DEL	G	TCGA-BR-4257-01A-01D-1126-08	150990	3028804	56100179	1123	11131											
TMIGD2	126259	broad.mit.edu	37	chr19	4292680	4292680	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaccctgaccatagagacGgggtggccgggcctggggct	18	11	0	3	rs148804982	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:4292680G>A	uc002lzx.1	-	5	811	c.765C>T	c.(763-765)CCC>CCT	p.P255P	TMIGD2_uc010dtv.1_Silent_p.P251P	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain	255	Pro-rich.|Cytoplasmic (Potential).					integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATAGAGACGGGGTggccgg	0.498													A	4292680	G	A	4292680	2	1	12	1	0	0	0	0	0	0	0	1	16228	1103	39	1		1	TMIGD2	19	4292680	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1263876	4292680	54836303	1124	11132											
C19orf70	125988	broad.mit.edu	37	chr19	5679654	5679654	+	Frame_Shift_Del	DEL	G	G	-													tggctgaactggtacatggcGggggggaccacctccccagc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:5679653_5679653CG>C	uc002mch.1	-	1	565	c.151_151CG>G	c.(151-153)gccfs	p.A51fs	C19orf70_uc002mci.1_3'UTR|HSD11B1L_uc002mcj.3_5'Flank|HSD11B1L_uc002mck.3_5'Flank|HSD11B1L_uc002mcu.3_5'Flank|HSD11B1L_uc002mcn.3_5'Flank|HSD11B1L_uc002mco.3_5'Flank|HSD11B1L_uc002mcp.3_5'Flank|HSD11B1L_uc002mcr.3_5'Flank|HSD11B1L_uc002mcq.3_5'Flank|HSD11B1L_uc010dug.3_5'Flank|HSD11B1L_uc002mct.3_5'Flank|HSD11B1L_uc002mcl.3_5'Flank	NM_205767	NP_991330	Q5XKP0	QIL1_HUMAN	Homo sapiens chromosome 19 open reading frame 70 (C19orf70), mRNA.	51							protein binding			endometrium(1)|lung(1)	2						TGGTACATGGCGGGGGGGACC	0.667													-	5679654	G	-	5679654	7	5	12	1	0	1	0	1	0	0	0	0	1947	1103	39	0	218	0	C19orf70	19	5679654	Frame_Shift_Del	DEL	G	TCGA-BR-4257-01A-01D-1126-08	1386974	5679654	53449329	1125	11133											
LONP1	9361	broad.mit.edu	37	chr19	5693672	5693672	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgcgggcgctctccttcAtcacctcccccagctggcct	8	19	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:5693672A>G	uc002mcx.2	-	16	2462	c.2429T>C	c.(2428-2430)ATG>ACG	p.M810T	LONP1_uc002mcy.2_Missense_Mutation_p.M746T|LONP1_uc010duh.2_Missense_Mutation_p.M551T|LONP1_uc010dui.2_Missense_Mutation_p.M794T|LONP1_uc002mcz.2_Missense_Mutation_p.M614T	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	810					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						GCTCTCCTTCATCACCTCCCC	0.607													G	5693672	A	G	5693672	3	3	12	1	0	0	0	0	1	0	0	0	8892	217	8	3	462	3	LONP1	19	5693672	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	14018	5693672	53435311	1126	11134											
LONP1	9361	broad.mit.edu	37	chr19	5700863	5700863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcactgcctgtgcccgCgccaggtccaggttctcgtt	11	16	1	0	rs146759309	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:5700863C>T	uc002mcx.2	-	9	1476	c.1443G>A	c.(1441-1443)GCG>GCA	p.A481A	LONP1_uc002mcy.2_Silent_p.A417A|LONP1_uc010duh.2_Silent_p.A222A|LONP1_uc010dui.2_Silent_p.A465A|LONP1_uc002mcz.2_Silent_p.A285A	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	481					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						CCTGTGCCCGCGCCAGGTCCA	0.587													T	5700863	C	T	5700863	2	4	12	1	0	0	0	0	0	0	0	1	8892	755	27	1		1	LONP1	19	5700863	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	7191	5700863	53428120	1127	11135											
SH2D3A	10045	broad.mit.edu	37	chr19	6760727	6760727	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggcccctgccaagtcAcaggcctggagaccacagcc	12	16	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:6760727A>C	uc002mft.2	-	3	535	c.341T>G	c.(340-342)GTG>GGG	p.V114G	SH2D3A_uc010xjg.1_Intron	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	114	SH2.				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(2)	2						CTGCCAAGTCACAGGCCTGGA	0.612													C	6760727	A	C	6760727	3	2	12	1	0	0	0	0	1	0	0	0	14233	159	6	5	1421	5	SH2D3A	19	6760727	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	1059864	6760727	52368256	1128	11136											
KIAA1543	57662	broad.mit.edu	37	chr19	7676981	7676981	+	Frame_Shift_Del	DEL	G	G	-													aaaccatctccctgtctggtGggggaggcatcgaaaccgcc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:7676981delG	uc002mgv.3	+	11	1703	c.1602delG	c.(1600-1602)GTGfs	p.V534fs	KIAA1543_uc002mgu.3_Frame_Shift_Del_p.V561fs|KIAA1543_uc002mgw.2_5'Flank	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	534	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						CCTGTCTGGTGGGGGAGGCAT	0.637													-	7676981	G	-	7676981	7	5	12	1	0	1	0	1	0	0	0	0	8243	1335	47	0	1733	0	KIAA1543	19	7676981	Frame_Shift_Del	DEL	G	TCGA-BR-4257-01A-01D-1126-08	916254	7676981	51452002	1129	11137											
XAB2	56949	broad.mit.edu	37	chr19	7685435	7685435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccccacagccctacccGggggtcacagatctgggagc	11	18	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:7685435G>A	uc002mgx.2	-	15	2118	c.2092C>T	c.(2092-2094)CGG>TGG	p.R698W		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	698	HAT 14.				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						AGCCCTACCCGGGGGTCACAG	0.677								Direct_reversal_of_damage|NER					A	7685435	G	A	7685435	3	1	12	1	0	0	0	0	1	0	0	0	17415	1115	39	1	495	1	XAB2	19	7685435	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	8454	7685435	51443548	1130	11138											
CD320	51293	broad.mit.edu	37	chr19	8367483	8367483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtgaccaggcttgcactgAgcaccgctgtggggaacaga	15	11	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:8367483A>G	uc002mjj.1	-	5	778	c.713T>C	c.(712-714)CTC>CCC	p.L238P	CD320_uc002mjk.1_RNA|CD320_uc002mjl.1_Missense_Mutation_p.L196P	NM_016579	NP_057663	Q9NPF0	CD320_HUMAN	8D6 antigen isoform 1 precursor	238	Helical; (Potential).				regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity				0						GCTTGCACTGAGCACCGCTGT	0.627													G	8367483	A	G	8367483	3	3	12	1	0	0	0	0	1	0	0	0	3004	304	11	3	139	3	CD320	19	8367483	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	682048	8367483	50761500	1131	11139											
ACTL9	284382	broad.mit.edu	37	chr19	8808138	8808138	+	Frame_Shift_Del	DEL	G	G	-													gtgacagccccgggacctctGgggggttgaacagcagctcc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:8808138delG	uc002mkl.2	-	1	1035	c.914delC	c.(913-915)CCAfs	p.P305fs		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	305						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						CGGGACCTCTGGGGGGTTGAA	0.647													-	8808138	G	-	8808138	7	5	12	1	0	1	0	1	0	0	0	0	203	1348	47	0	340	0	ACTL9	19	8808138	Frame_Shift_Del	DEL	G	TCGA-BR-4257-01A-01D-1126-08	440655	8808138	50320845	1132	11140											
ZNF558	148156	broad.mit.edu	37	chr19	8932736	8932736	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgccctgtgtgtgtcctttTtgctgagaggctgggaacag	14	10	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:8932736T>C	uc002mkn.1	-	2	293	c.63A>G	c.(61-63)CAA>CAG	p.Q21Q	ZNF558_uc010xkh.1_5'Flank|ZNF558_uc010dwg.1_Silent_p.Q21Q	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	zinc finger protein 558	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1						TGTGTCCTTTTTGCTGAGAGG	0.527													C	8932736	T	C	8932736	2	2	12	1	0	0	0	0	0	0	0	1	17986	1838	64	3		3	ZNF558	19	8932736	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	124598	8932736	50196247	1133	11141											
MUC16	94025	broad.mit.edu	37	chr19	9077103	9077103	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtgatgtataatgtgTttgtgacatcaggagatgca	14	3	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:9077103T>C	uc002mkp.2	-	3	10547	c.10343A>G	c.(10342-10344)AAC>AGC	p.N3448S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3449	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTATAATGTGTTTGTGACATC	0.478													C	9077103	T	C	9077103	3	2	12	1	0	0	0	0	1	0	0	0	9973	1725	60	3	33508	3	MUC16	19	9077103	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	144367	9077103	50051880	1134	11142											
MUC16	94025	broad.mit.edu	37	chr19	9087343	9087343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgagaaggtgtggacataGgtggaaaaatagcaaatgta	13	3	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:9087343G>A	uc002mkp.2	-	1	4676	c.4472C>T	c.(4471-4473)CCT>CTT	p.P1491L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1491	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGTGGACATAGGTGGAAAAAT	0.428													A	9087343	G	A	9087343	3	1	12	1	0	0	0	0	1	0	0	0	9973	1000	35	4	39387	4	MUC16	19	9087343	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	10240	9087343	50041640	1135	11143											
OR7E24	26648	broad.mit.edu	37	chr19	9362079	9362079	+	Frame_Shift_Del	DEL	T	T	-													ggctgcctgactcagatgtcTttttttgtcctttttgcatg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:9362078_9362078CT>C	uc002mlb.1	+	0	359	c.359_359CT>C	c.(358-360)tctfs	p.S120fs		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						ACTCAGATGTCTTTTTTTGTC	0.502													-	9362079	T	-	9362079	7	5	12	1	0	1	0	1	0	0	0	0	11221	1596	56	0	362	0	OR7E24	19	9362079	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	274736	9362079	49766904	1136	11144											
ZNF266	10781	broad.mit.edu	37	chr19	9524026	9524026	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaactgaaggctttcccGcactccttacattcataggg	9	11	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:9524026G>A	uc002mll.2	-	4	1841	c.1575C>T	c.(1573-1575)TGC>TGT	p.C525C	ZNF266_uc002mlm.2_Silent_p.C525C|ZNF266_uc002mln.2_Silent_p.C525C|ZNF266_uc002mlo.2_Silent_p.C525C|ZNF266_uc010dwp.2_Silent_p.C525C|ZNF266_uc010dwq.2_Silent_p.C525C	NM_198058	NP_932175	Q14584	ZN266_HUMAN	zinc finger protein 266	525	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGGCTTTCCCGCACTCCTTAC	0.428													A	9524026	G	A	9524026	2	1	12	1	0	0	0	0	0	0	0	1	17802	1079	38	1		1	ZNF266	19	9524026	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	161947	9524026	49604957	1137	11145											
OLFM2	93145	broad.mit.edu	37	chr19	9968487	9968487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgtacatactggaggtcGcgatacgtccgcaactcaag	11	13	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:9968487G>A	uc002mmp.2	-	3	292	c.264C>T	c.(262-264)CGC>CGT	p.R88R	OLFM2_uc002mmo.2_Silent_p.R10R	NM_058164	NP_477512	O95897	NOE2_HUMAN	olfactomedin 2 precursor	88						extracellular region				large_intestine(1)|skin(1)	2						ACTGGAGGTCGCGATACGTCC	0.612													A	9968487	G	A	9968487	2	1	12	1	0	0	0	0	0	0	0	1	10853	1074	38	1		1	OLFM2	19	9968487	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	444461	9968487	49160496	1138	11146											
ZGLP1	100125288	broad.mit.edu	37	chr19	10419251	10419251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaagggcagtggggtcaCgttttcttgggtgactcctg	17	7	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:10419251C>T	uc002mnw.3	-	1	983	c.107G>A	c.(106-108)CGT>CAT	p.R36H	FDX1L_uc002mnx.1_Intron	NM_001103167	NP_001096637	P0C6A0	ZGLP1_HUMAN	GATA like protein-1	36					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						AGTGGGGTCACGTTTTCTTGG	0.622													T	10419251	C	T	10419251	3	4	12	1	0	0	0	0	1	0	0	0	17670	536	19	1	724	1	ZGLP1	19	10419251	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	450764	10419251	48709732	1139	11147											
CDC37	11140	broad.mit.edu	37	chr19	10506695	10506695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcttctgctcccagctcCgctcctccttgcgcagctgc	8	20	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:10506695C>T	uc002mof.1	-	2	403	c.287G>A	c.(286-288)CGG>CAG	p.R96Q	CDC37_uc002moe.1_5'Flank|CDC37_uc010dxf.1_5'UTR|CDC37_uc002mog.1_Missense_Mutation_p.R96Q|CDC37_uc002moh.2_Missense_Mutation_p.R96Q	NM_007065	NP_008996	Q16543	CDC37_HUMAN	cell division cycle 37 protein	96					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding				0			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTCCCAGCTCCGCTCCTCCTT	0.642													T	10506695	C	T	10506695	3	4	12	1	0	0	0	0	1	0	0	0	3068	652	23	1	877	1	CDC37	19	10506695	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	87444	10506695	48622288	1140	11148											
KEAP1	9817	broad.mit.edu	37	chr19	10610092	10610092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccaaaatgcatgtagatGtactcccgggcacgctggtg	11	12	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:10610092G>A	uc002moq.1	-	2	774	c.618C>T	c.(616-618)TAC>TAT	p.Y206Y	KEAP1_uc002mor.1_Silent_p.Y206Y	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	206	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCATGTAGATGTACTCCCGGG	0.602													A	10610092	G	A	10610092	2	1	12	1	0	0	0	0	0	0	0	1	8141	1372	48	4		4	KEAP1	19	10610092	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	103397	10610092	48518891	1141	11149											
ELAVL3	1995	broad.mit.edu	37	chr19	11565601	11565601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgaagatgcaccagccggCgcccgccgcgccccccgaca	11	21	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:11565601C>T	uc002mry.1	-	7	1224	c.844G>A	c.(844-846)GCC>ACC	p.A282T	ELAVL3_uc002mrx.1_Missense_Mutation_p.A275T	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	282				Missing (in Ref. 1; AAA58677 and 4; BAA21838).	cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)|skin(1)	3						CACCAgccggcgcccgccgcg	0.547													T	11565601	C	T	11565601	3	4	12	1	0	0	0	0	1	0	0	0	5051	768	27	1	263	1	ELAVL3	19	11565601	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	955509	11565601	47563382	1142	11150											
ELOF1	84337	broad.mit.edu	37	chr19	11664600	11664600	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcgtctatccaatcactGtacacatccacgggttctga	8	13	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:11664600G>A	uc002mse.1	-	4	277	c.213C>T	c.(211-213)TAC>TAT	p.Y71Y	ELOF1_uc002msd.1_Silent_p.Y92Y	NM_032377	NP_115753	P60002	ELOF1_HUMAN	elongation factor 1 homolog (ELF1, S.	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding				0						TCCAATCACTGTACACATCCA	0.577													A	11664600	G	A	11664600	2	1	12	1	0	0	0	0	0	0	0	1	5072	1372	48	4		4	ELOF1	19	11664600	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	98999	11664600	47464383	1143	11151											
ZNF878	729747	broad.mit.edu	37	chr19	12155504	12155504	+	Frame_Shift_Del	DEL	A	A	-													tctttttaacgaactgggagAaaaaaaggctttcccacata							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:12155503_12155503GA>G	uc021upl.1	-	3	879	c.713_713TC>C	c.(712-714)tctfs	p.S238fs	ZNF878_uc002mta.1_Frame_Shift_Del_p.S285fs	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CGAACTGGGAGAAAAAAAGGC	0.393													-	12155504	A	-	12155504	7	5	12	1	0	1	0	1	0	0	0	0	18193	246	9	0	887	0	ZNF878	19	12155504	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	490904	12155504	46973479	1144	11152											
ZNF564	163050	broad.mit.edu	37	chr19	12638137	12638137	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaataaactggggcggtcaAaggcttttccacattcctga	10	9	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:12638137A>G	uc002mty.2	-	4	995	c.785T>C	c.(784-786)TTT>TCT	p.F262S	ZNF709_uc002mtx.3_Intron	NM_144976	NP_659413	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	262	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GGGGCGGTCAAAGGCTTTTCC	0.398													G	12638137	A	G	12638137	3	3	12	1	0	0	0	0	1	0	0	0	17992	14	1	3	880	3	ZNF564	19	12638137	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	482633	12638137	46490846	1145	11153											
PKN1	5585	broad.mit.edu	37	chr19	14574680	14574680	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggcagatgaacatcgatgtCgccacgtgggtgcggctgct	15	10	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:14574680C>T	uc002myp.2	+	11	1704	c.1536C>T	c.(1534-1536)GTC>GTT	p.V512V	PKN1_uc002myq.2_Silent_p.V518V	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	512					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						ACATCGATGTCGCCACGTGGG	0.682													T	14574680	C	T	14574680	2	4	12	1	0	0	0	0	0	0	0	1	11979	871	31	1		1	PKN1	19	14574680	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1936543	14574680	44554303	1146	11154											
HSH2D	84941	broad.mit.edu	37	chr19	16268222	16268222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctaaaaaagccacctcGccactgtgaacttgtcgtca	8	13	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:16268222G>A	uc002ndp.3	+	9	1207	c.676G>A	c.(676-678)GCC>ACC	p.A226T	HSH2D_uc002ndr.2_Missense_Mutation_p.R169H|HSH2D_uc010ead.2_RNA	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	226						cytoplasm|nucleus					0						AAGCCACCTCGCCACTGTGAA	0.582													A	16268222	G	A	16268222	3	1	12	1	0	0	0	0	1	0	0	0	7400	1087	38	1	695	1	HSH2D	19	16268222	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1693542	16268222	42860761	1147	11155											
NWD1	284434	broad.mit.edu	37	chr19	16918704	16918704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttttacactcagctgccCgagaccctctccagcgtggc	8	17	2	1	rs61735363	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:16918704C>T	uc002neu.3	+	18	4466	c.4044C>T	c.(4042-4044)CCC>CCT	p.P1348P	NWD1_uc002net.3_Silent_p.P1213P|NWD1_uc002nev.3_Silent_p.P1142P			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	1348							ATP binding			skin(3)|ovary(2)|pancreas(2)	7						CTCAGCTGCCCGAGACCCTCT	0.572													T	16918704	C	T	16918704	2	4	12	1	0	0	0	0	0	0	0	1	10781	639	23	1		1	NWD1	19	16918704	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	650482	16918704	42210279	1148	11156											
MYO9B	4650	broad.mit.edu	37	chr19	17298808	17298808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacaccggcatgctggagaCcgtgcgcatccggaggtcag	14	13	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:17298808C>T	uc010eak.2	+	19	2794	c.2642C>T	c.(2641-2643)ACC>ATC	p.T881I	MYO9B_uc002nfi.2_Missense_Mutation_p.T881I|MYO9B_uc002nfj.1_Missense_Mutation_p.T881I	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	881	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						ATGCTGGAGACCGTGCGCATC	0.577													T	17298808	C	T	17298808	3	4	12	1	0	0	0	0	1	0	0	0	10085	507	18	4	2712	4	MYO9B	19	17298808	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	380104	17298808	41830175	1149	11157											
GTPBP3	84705	broad.mit.edu	37	chr19	17452410	17452410	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacctggccctggcggcagaGgcgctgcgggtggcccgggg	21	13	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:17452410G>T	uc010eas.2	+	9	1442	c.1377G>T	c.(1375-1377)GAG>GAT	p.E459D	GTPBP3_uc010xpo.1_Missense_Mutation_p.E481D|GTPBP3_uc002ngh.3_Missense_Mutation_p.E438D|GTPBP3_uc002ngg.3_Missense_Mutation_p.E491D|GTPBP3_uc002ngi.3_Missense_Mutation_p.E125D	NM_032620	NP_116009	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial) isoform V	459					tRNA modification	mitochondrion	GTP binding|GTPase activity			skin(1)	1						TGGCGGCAGAGGCGCTGCGGG	0.657													T	17452410	G	T	17452410	3	4	12	1	0	0	0	0	1	0	0	0	6881	991	35	5	1503	5	GTPBP3	19	17452410	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	153602	17452410	41676573	1150	11158											
KLHL26	55295	broad.mit.edu	37	chr19	18779306	18779306	+	Frame_Shift_Del	DEL	G	G	-													acaattttgtgtacgtggccGgggggcagcacctgcagtac							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:18779306delG	uc002njz.1	+	3	1126	c.1099delG	c.(1099-1101)GGGfs	p.G367fs		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	367	Kelch 2.									ovary(1)	1						GTACGTGGCCGGGGGGCAGCA	0.687													-	18779306	G	-	18779306	7	5	12	1	0	1	0	1	0	0	0	0	8381	1116	39	0	1109	0	KLHL26	19	18779306	Frame_Shift_Del	DEL	G	TCGA-BR-4257-01A-01D-1126-08	1326896	18779306	40349677	1151	11159											
LPAR2	9170	broad.mit.edu	37	chr19	19735185	19735185	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggactggcggaggcacgcGcagcagagaaggcggcggaa	20	9	0	1	rs144833106		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:19735185G>A	uc002nnb.3	-	3	1075	c.936C>T	c.(934-936)TGC>TGT	p.C312C	LPAR2_uc002nna.3_Silent_p.C312C|LPAR2_uc002nnc.3_Silent_p.C312C	NM_004720	NP_004711	Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	312	Cytoplasmic (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			ovary(1)|breast(1)	2						GGAGGCACGCGCAGCAGAGAA	0.627													A	19735185	G	A	19735185	2	1	12	1	0	0	0	0	0	0	0	1	8905	1079	38	1		1	LPAR2	19	19735185	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	955879	19735185	39393798	1152	11160											
ZNF506	440515	broad.mit.edu	37	chr19	19906095	19906095	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accacattcttcacatttatAgcgtttctctccagcatcaa	3	13	4	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:19906095A>G	uc010eci.2	-	4	749	c.601T>C	c.(601-603)TAT>CAT	p.Y201H	ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Missense_Mutation_p.Y169H	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	zinc finger protein 506 isoform 1	201	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding				0						TCACATTTATAGCGTTTCTCT	0.338													G	19906095	A	G	19906095	3	3	12	1	0	0	0	0	1	0	0	0	17949	420	15	3	737	3	ZNF506	19	19906095	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	170910	19906095	39222888	1153	11161											
ZNF708	7562	broad.mit.edu	37	chr19	21477541	21477541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaaaatgagaacacataGctgaaagaaataaaaataac	7	5	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:21477541G>A	uc002npq.1	-	4	425	c.227C>T	c.(226-228)GCT>GTT	p.A76V	ZNF708_uc002npr.1_Missense_Mutation_p.A12V|ZNF708_uc010ecs.1_Missense_Mutation_p.A12V	NM_021269	NP_067092	P17019	ZN708_HUMAN	zinc finger protein 708	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(4)|skin(2)	6						AGAACACATAGCTGAAAGAAA	0.289													A	21477541	G	A	21477541	3	1	12	1	0	0	0	0	1	0	0	0	18109	985	34	2	1468	2	ZNF708	19	21477541	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1571446	21477541	37651442	1154	11162											
ZNF536	9745	broad.mit.edu	37	chr19	31039376	31039376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccttccatgaaagtccaCggagtggatggtggtgagga	14	10	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:31039376C>T	uc002nsu.1	+	4	2988	c.2850C>T	c.(2848-2850)CAC>CAT	p.H950H	ZNF536_uc010edd.1_Silent_p.H950H	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	950					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					TGAAAGTCCACGGAGTGGATG	0.532													T	31039376	C	T	31039376	2	4	12	1	0	0	0	0	0	0	0	1	17971	535	19	1		1	ZNF536	19	31039376	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	9561835	31039376	28089607	1155	11163											
ZNF536	9745	broad.mit.edu	37	chr19	31039865	31039865	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcccatcagacttctacaaGcagtttggtgtttacccagg	8	11	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:31039865G>T	uc002nsu.1	+	4	3477	c.3339G>T	c.(3337-3339)AAG>AAT	p.K1113N	ZNF536_uc010edd.1_Missense_Mutation_p.K1113N	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					ACTTCTACAAGCAGTTTGGTG	0.567													T	31039865	G	T	31039865	3	4	12	1	0	0	0	0	1	0	0	0	17971	962	34	5	3349	5	ZNF536	19	31039865	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	489	31039865	28089118	1156	11164											
LSM14A	26065	broad.mit.edu	37	chr19	34687605	34687605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggacctttcggcaggatgCccacatacagtcagttcagt	10	11	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:34687605C>T	uc002nvb.3	+	3	548	c.352C>T	c.(352-354)CCC>TCC	p.P118S	LSM14A_uc002nva.3_Missense_Mutation_p.P118S|LSM14A_uc010xru.1_Missense_Mutation_p.P118S	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	LSM14 homolog A isoform a	118					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				skin(1)	1	Esophageal squamous(110;0.162)					CGGCAGGATGCCCACATACAG	0.403													T	34687605	C	T	34687605	3	4	12	1	0	0	0	0	1	0	0	0	9054	739	26	2	362	2	LSM14A	19	34687605	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3647740	34687605	24441378	1157	11165											
ZNF302	55900	broad.mit.edu	37	chr19	35174067	35174067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgtaagcaggtctttcCgtaactaagccatatgtgat	8	9	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:35174067C>T	uc002nvr.1	+	5	533	c.270C>T	c.(268-270)TCC>TCT	p.S90S	ZNF302_uc010xrz.1_Silent_p.S47S|ZNF302_uc002nvp.1_Silent_p.S46S|ZNF302_uc002nvq.1_Silent_p.S46S|ZNF302_uc002nvs.1_Silent_p.S46S	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	zinc finger protein 302	Error:Variant_position_missing_in_Q9NR11_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CAGGTCTTTCCGTAACTAAGC	0.418													T	35174067	C	T	35174067	2	4	12	1	0	0	0	0	0	0	0	1	17829	639	23	1		1	ZNF302	19	35174067	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	486462	35174067	23954916	1158	11166											
ZNF567	163081	broad.mit.edu	37	chr19	37210721	37210721	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacacgggagagaaaccataTgagtgtaatgactgtgggaa	13	6	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:37210721T>A	uc010xtl.1	+	6	1317	c.1095T>A	c.(1093-1095)TAT>TAA	p.Y365*	ZNF567_uc002oeo.1_Nonsense_Mutation_p.Y365*|ZNF567_uc010xtk.1_Nonsense_Mutation_p.Y365*|ZNF567_uc002oep.3_Nonsense_Mutation_p.Y334*|ZNF567_uc002oeq.1_Nonsense_Mutation_p.Y334*	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	zinc finger protein 567	365	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAAACCATATGAGTGTAATG	0.443													A	37210721	T	A	37210721	4	1	12	1	0	0	0	0	0	1	0	0	17995	1471	51	5	1012	5	ZNF567	19	37210721	Nonsense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	2036654	37210721	21918262	1159	11167											
ZNF607	84775	broad.mit.edu	37	chr19	38189172	38189172	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatgccttcccacatctTttacattcatagggtttatc	5	10	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:38189172T>C	uc002ohc.1	-	5	2456	c.1860A>G	c.(1858-1860)AAA>AAG	p.K620K	ZNF607_uc002ohb.1_Silent_p.K619K	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	620	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TCCCACATCTTTTACATTCAT	0.378													C	38189172	T	C	38189172	2	2	12	1	0	0	0	0	0	0	0	1	18030	1838	64	3		3	ZNF607	19	38189172	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	978451	38189172	20939811	1160	11168											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572895	38572895	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttccgcagcgagcagccCgacgcccgagggtgccaggc	16	15	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:38572895C>T	uc002ohk.2	+	3	1199	c.690C>T	c.(688-690)CCC>CCT	p.P230P		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	230					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCGAGCAGCCCGACGCCCGAG	0.692													T	38572895	C	T	38572895	2	4	12	1	0	0	0	0	0	0	0	1	14331	639	23	1		1	SIPA1L3	19	38572895	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	383723	38572895	20556088	1161	11169											
SIPA1L3	23094	broad.mit.edu	37	chr19	38573583	38573583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcggcgagggccacctgGcagagcccgccctgagcgcc	16	17	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:38573583G>A	uc002ohk.2	+	3	1887	c.1378G>A	c.(1378-1380)GCA>ACA	p.A460T		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	460					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGGCCACCTGGCAGAGCCCGC	0.687													A	38573583	G	A	38573583	3	1	12	1	0	0	0	0	1	0	0	0	14331	1203	42	2	1380	2	SIPA1L3	19	38573583	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	688	38573583	20555400	1162	11170											
DPF1	8193	broad.mit.edu	37	chr19	38706879	38706879	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagccgttggggatgacagTgccgtcgggcgccttcttgg	17	10	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:38706879T>C	uc002ohl.2	-	8	775	c.748A>G	c.(748-750)ACT>GCT	p.T250A	DPF1_uc002ohm.2_Missense_Mutation_p.T294A|DPF1_uc002ohn.2_Missense_Mutation_p.T212A|DPF1_uc010xtu.1_Missense_Mutation_p.T268A|DPF1_uc010xtv.1_Missense_Mutation_p.T268A	NM_004647	NP_004638	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1 isoform	250					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding				0	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGGATGACAGTGCCGTCGGGC	0.632													C	38706879	T	C	38706879	3	2	12	1	0	0	0	0	1	0	0	0	4716	1696	59	3	410	3	DPF1	19	38706879	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	133296	38706879	20422104	1163	11171											
RYR1	6261	broad.mit.edu	37	chr19	39018367	39018367	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggacgccgatgacccCgagaaaatcgtgcgcagagt	15	10	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:39018367C>T	uc002oit.2	+	73	10897	c.10767C>T	c.(10765-10767)CCC>CCT	p.P3589P	RYR1_uc002oiu.2_Silent_p.P3584P|RYR1_uc002oiv.1_Silent_p.P504P|RYR1_uc010xuf.1_Silent_p.P509P	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3589					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCGATGACCCCGAGAAAATCG	0.652													T	39018367	C	T	39018367	2	4	12	1	0	0	0	0	0	0	0	1	13768	639	23	1		1	RYR1	19	39018367	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	311488	39018367	20110616	1164	11172											
NFKBIB	4793	broad.mit.edu	37	chr19	39399383	39399383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccccaggatgaatacgacGacattgtggttcacagcagc	11	12	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:39399383G>A	uc002ojw.2	+	6	1040	c.982G>A	c.(982-984)GAC>AAC	p.D328N	NFKBIB_uc002ojx.2_3'UTR|NFKBIB_uc002ojy.2_3'UTR	NM_002503	NP_002494	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene	328					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			lung(1)|kidney(1)	2	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TGAATACGACGACATTGTGGT	0.587													A	39399383	G	A	39399383	3	1	12	1	0	0	0	0	1	0	0	0	10378	1058	37	1	1052	1	NFKBIB	19	39399383	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	381016	39399383	19729600	1165	11173											
IL28B	282617	broad.mit.edu	37	chr19	39735101	39735101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggggaagaggcgggagcGgcacttgcagtccttcagca	16	11	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:39735101G>A	uc010xut.1	-	2	218	c.214C>T	c.(214-216)CGC>TGC	p.R72C	IL28B_uc010xuu.1_Missense_Mutation_p.R72C	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	interleukin 28B	72					response to virus	extracellular space	cytokine activity				0	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AGGCGGGAGCGGCACTTGCAG	0.637													A	39735101	G	A	39735101	3	1	12	1	0	0	0	0	1	0	0	0	7683	1116	39	1	391	1	IL28B	19	39735101	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	335718	39735101	19393882	1166	11174											
ZNF546	339327	broad.mit.edu	37	chr19	40520949	40520949	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agaatgtgggaagatttttaGtcgtcgctataatcttactc	9	6	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:40520949G>C	uc002oms.2	+	7	2028	c.1772G>C	c.(1771-1773)AGT>ACT	p.S591T	ZNF546_uc002omt.2_Missense_Mutation_p.S565T	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	zinc finger protein 546	591	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGATTTTTAGTCGTCGCTAT	0.353													C	40520949	G	C	40520949	3	2	12	1	0	0	0	0	1	0	0	0	17975	1029	36	5	1790	5	ZNF546	19	40520949	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	785848	40520949	18608034	1167	11175											
SNRPA	6626	broad.mit.edu	37	chr19	41265406	41265406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccttcgtggagcgggaccGcaagcgggagaagaggaagc	17	10	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:41265406G>A	uc002ooz.2	+	3	852	c.317G>A	c.(316-318)CGC>CAC	p.R106H	SNRPA_uc002opa.2_Missense_Mutation_p.R56H	NM_004596	NP_004587	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	106						nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			skin(2)|ovary(1)|central_nervous_system(1)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GAGCGGGACCGCAAGCGGGAG	0.552													A	41265406	G	A	41265406	3	1	12	1	0	0	0	0	1	0	0	0	14859	1087	38	1	327	1	SNRPA	19	41265406	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	744457	41265406	17863577	1168	11176											
CYP2A7	1549	broad.mit.edu	37	chr19	41388023	41388023	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgggtcccggaggcagcttCcccctgctcttcctctgctg	12	16	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:41388023C>T	uc002opm.2	-	1	635	c.93G>A	c.(91-93)GGG>GGA	p.G31G	CYP2A7_uc002opo.2_Intron|CYP2A7_uc002opn.2_Silent_p.G31G	NM_000764	NP_000755	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A,	31						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GAGGCAGCTTCCCCCTGCTCT	0.582													T	41388023	C	T	41388023	2	4	12	1	0	0	0	0	0	0	0	1	4163	842	30	4		4	CYP2A7	19	41388023	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	122617	41388023	17740960	1169	11177											
MEGF8	1954	broad.mit.edu	37	chr19	42839311	42839311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccctgccttctctgcccGtattggggcagctggcgcct	13	15	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:42839311G>A	uc002otl.3	+	4	1318	c.683G>A	c.(682-684)CGT>CAT	p.R228H	MEGF8_uc002otm.3_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	228	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				TTCTCTGCCCGTATTGGGGCA	0.657													A	42839311	G	A	42839311	3	1	12	1	0	0	0	0	1	0	0	0	9463	1145	40	1	697	1	MEGF8	19	42839311	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1451288	42839311	16289672	1170	11178											
CXCL17	284340	broad.mit.edu	37	chr19	42937210	42937210	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgtcatgaattttcttctCggggctctcaggaaccaatc	8	11	4	1	rs151260095	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:42937210C>T	uc002otu.2	-	3	332	c.180G>A	c.(178-180)CCG>CCA	p.P60P	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	NM_198477	NP_940879	Q6UXB2	VCC1_HUMAN	chemokine (C-X-C motif) ligand 17 precursor	60					angiogenesis|cell differentiation|chemotaxis	extracellular region					0		Prostate(69;0.00899)				ATTTTCTTCTCGGGGCTCTCA	0.453													T	42937210	C	T	42937210	2	4	12	1	0	0	0	0	0	0	0	1	4084	871	31	1		1	CXCL17	19	42937210	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	97899	42937210	16191773	1171	11179											
CEACAM1	634	broad.mit.edu	37	chr19	43015774	43015774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgagatcacgctggtcGcttgccctaaataaatatca	8	10	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:43015774G>A	uc002otv.2	-	7	1496	c.1383C>T	c.(1381-1383)AGC>AGT	p.S461S	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_Intron|CEACAM1_uc002otw.2_Intron|CEACAM1_uc010eij.2_Intron|CEACAM1_uc002otx.2_Silent_p.S396S|CEACAM1_uc002oty.2_Silent_p.S365S|CEACAM1_uc002otz.2_Intron|CEACAM1_uc010eik.2_Silent_p.S187S	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	461	Cytoplasmic (Potential).				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CACGCTGGTCGCTTGCCCTAA	0.478													A	43015774	G	A	43015774	2	1	12	1	0	0	0	0	0	0	0	1	3187	1078	38	1		1	CEACAM1	19	43015774	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	78564	43015774	16113209	1172	11180											
ZNF227	7770	broad.mit.edu	37	chr19	44739572	44739572	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttatagatgcgacagttgcgGcaagggattcagtagcagca	13	7	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:44739572G>T	uc002oyu.2	+	6	1194	c.989G>T	c.(988-990)GGC>GTC	p.G330V	ZNF227_uc010xwu.1_Missense_Mutation_p.G279V|ZNF227_uc002oyv.2_Missense_Mutation_p.G330V|ZNF227_uc010xwv.1_Missense_Mutation_p.G279V|ZNF227_uc010xww.1_Missense_Mutation_p.G251V|ZNF227_uc002oyw.2_Missense_Mutation_p.G302V|ZNF227_uc010ejh.2_Missense_Mutation_p.G323V|ZNF235_uc002oyx.1_Intron	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	330	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				GACAGTTGCGGCAAGGGATTC	0.388													T	44739572	G	T	44739572	3	4	12	1	0	0	0	0	1	0	0	0	17778	1203	42	5	1003	5	ZNF227	19	44739572	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1723798	44739572	14389411	1173	11181											
ZNF296	162979	broad.mit.edu	37	chr19	45574990	45574990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcatgccgtgcatgcggcGgtggcggttgagcttactgc	16	11	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:45574990G>A	uc002pao.2	-	3	1354	c.1297C>T	c.(1297-1299)CGC>TGC	p.R433C		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	433	C2H2-type 5.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGCATGCGGCGGTGGCGGTTG	0.672													A	45574990	G	A	45574990	3	1	12	1	0	0	0	0	1	0	0	0	17825	1116	39	1	134	1	ZNF296	19	45574990	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	835418	45574990	13553993	1174	11182											
FOSB	2354	broad.mit.edu	37	chr19	45974040	45974040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctcccagcccccggtcGtcgacccctacgacatgccg	10	20	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:45974040G>A	uc002pbx.3	+	2	872	c.280G>A	c.(280-282)GTC>ATC	p.V94I	ERCC1_uc002pbu.1_Intron|FOSB_uc002pbw.2_Missense_Mutation_p.V94I|FOSB_uc010eke.2_Missense_Mutation_p.V55I|FOSB_uc002pby.3_Missense_Mutation_p.V94I|FOSB_uc010eka.1_Missense_Mutation_p.V55I|FOSB_uc010ekb.1_Missense_Mutation_p.V94I|FOSB_uc010ekc.1_Intron|FOSB_uc010ekf.2_Missense_Mutation_p.V55I|FOSB_uc010ekd.1_Missense_Mutation_p.V94I|FOSB_uc010ekg.2_Intron|FOSB_uc002pca.3_Missense_Mutation_p.V45I	NM_006732	NP_006723	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	94					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|lung(1)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		GCCCCCGGTCGTCGACCCCTA	0.657													A	45974040	G	A	45974040	3	1	12	1	0	0	0	0	1	0	0	0	5986	1145	40	1	286	1	FOSB	19	45974040	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	399050	45974040	13154943	1175	11183											
KPTN	11133	broad.mit.edu	37	chr19	47984241	47984241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagagatgaatggccgggtCgttcccactcaagagaaaca	12	9	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:47984241C>T	uc002pgy.2	-	5	603	c.499G>A	c.(499-501)GAC>AAC	p.D167N	KPTN_uc010xys.1_RNA	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	167					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			ovary(1)	1		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		ATGGCCGGGTCGTTCCCACTC	0.562													T	47984241	C	T	47984241	3	4	12	1	0	0	0	0	1	0	0	0	8437	884	31	1	843	1	KPTN	19	47984241	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	2010201	47984241	11144742	1176	11184											
CRX	1406	broad.mit.edu	37	chr19	48343102	48343102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcaggccagagctatggcGcctacagccccgtggatagc	12	13	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:48343102G>A	uc002phq.3	+	4	982	c.778G>A	c.(778-780)GCC>ACC	p.A260T		NM_000554	NP_000545	O43186	CRX_HUMAN	cone-rod homeobox protein	260					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GAGCTATGGCGCCTACAGCCC	0.632													A	48343102	G	A	48343102	3	1	12	1	0	0	0	0	1	0	0	0	3902	1087	38	1	788	1	CRX	19	48343102	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	358861	48343102	10785881	1177	11185											
TMEM143	55260	broad.mit.edu	37	chr19	48845798	48845798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctcaccttggaggcccGcaggcccatgaagatggcga	13	13	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:48845798G>A	uc002pix.1	-	6	973	c.964C>T	c.(964-966)CGG>TGG	p.R322W	TMEM143_uc002piw.1_Intron|TMEM143_uc002piy.1_Missense_Mutation_p.R287W|TMEM143_uc010xzn.1_Missense_Mutation_p.R257W|TMEM143_uc010elw.1_Missense_Mutation_p.R222W|TMEM143_uc010xzo.1_Missense_Mutation_p.R112W	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	transmembrane protein 143	322						integral to membrane|mitochondrion					0		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TTGGAGGCCCGCAGGCCCATG	0.637													A	48845798	G	A	48845798	3	1	12	1	0	0	0	0	1	0	0	0	16054	1086	38	1	427	1	TMEM143	19	48845798	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	502696	48845798	10283185	1178	11186											
TEAD2	8463	broad.mit.edu	37	chr19	49863216	49863216	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccacaccccctctgcatcCgggcccccgtcacccccagc	6	25	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:49863216C>T	uc002pnj.2	-	2	208	c.117G>A	c.(115-117)CCG>CCA	p.P39P	TEAD2_uc002png.2_Silent_p.P39P|TEAD2_uc002pnh.2_Silent_p.P39P|TEAD2_uc002pni.2_Silent_p.P39P|TEAD2_uc010yao.1_Intron|TEAD2_uc010emw.2_Silent_p.P39P	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	39					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		CCTCTGCATCCGGGCCCCCGT	0.667													T	49863216	C	T	49863216	2	4	12	1	0	0	0	0	0	0	0	1	15736	639	23	1		1	TEAD2	19	49863216	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1017418	49863216	9265767	1179	11187											
SIGLEC9	27180	broad.mit.edu	37	chr19	51631709	51631709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatcggcaaggccagcagCgggcgtgggagatacgggca	18	9	0	1	rs61739656	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:51631709C>T	uc002pvu.2	+	6	1212	c.1145C>T	c.(1144-1146)GCG>GTG	p.A382V	SIGLEC9_uc010yct.1_Missense_Mutation_p.A382V	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9 precursor	382	Cytoplasmic (Potential).				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGGCCAGCAGCGGGCGTGGGA	0.587													T	51631709	C	T	51631709	3	4	12	1	0	0	0	0	1	0	0	0	14315	768	27	1	1167	1	SIGLEC9	19	51631709	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1768493	51631709	7497274	1180	11188											
ZNF600	162966	broad.mit.edu	37	chr19	53269380	53269380	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactatgaagtctacgatgGcaatgaaggtatgacctctg	10	9	2	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:53269380G>A	uc002qab.3	-	3	1915	c.1629C>T	c.(1627-1629)TGC>TGT	p.C543C		NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	543	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GTCTACGATGGCAATGAAGGT	0.453													A	53269380	G	A	53269380	2	1	12	1	0	0	0	0	0	0	0	1	18027	1195	42	2		2	ZNF600	19	53269380	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1637671	53269380	5859603	1181	11189											
CACNG6	59285	broad.mit.edu	37	chr19	54515275	54515275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcagagagtcagcccGgagcctcccccggccccacg	12	19	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:54515275G>A	uc002qct.2	+	4	1205	c.615G>A	c.(613-615)CCG>CCA	p.P205P	CACNG6_uc002qcu.2_Silent_p.P159P|CACNG6_uc002qcv.2_Silent_p.P134P	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	voltage-dependent calcium channel gamma-6	205						voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(2)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GAGTCAGCCCGGAGCCTCCCC	0.692													A	54515275	G	A	54515275	2	1	12	1	0	0	0	0	0	0	0	1	2561	1103	39	1		1	CACNG6	19	54515275	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1245895	54515275	4613708	1182	11190											
NLRP7	199713	broad.mit.edu	37	chr19	55450708	55450708	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtccccgatgtcccaggcGtggccgtccctgtcctcccc	10	20	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:55450708G>A	uc002qih.3	-	4	1555	c.1479C>T	c.(1477-1479)CAC>CAT	p.H493H	NLRP7_uc002qig.3_Silent_p.H493H|NLRP7_uc002qii.3_Silent_p.H493H|NLRP7_uc010esk.2_Silent_p.H493H|NLRP7_uc010esl.2_Silent_p.H521H	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	493							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		TGTCCCAGGCGTGGCCGTCCC	0.567													A	55450708	G	A	55450708	2	1	12	1	0	0	0	0	0	0	0	1	10482	1136	40	1		1	NLRP7	19	55450708	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	935433	55450708	3678275	1183	11191											
NLRP4	147945	broad.mit.edu	37	chr19	56392902	56392902	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggaagagagaaatccTaacctgaccatcacagacga	10	10	1	5			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:56392902T>G	uc002qmd.3	+	10	3356	c.2934T>G	c.(2932-2934)CCT>CCG	p.P978P	NLRP4_uc002qmf.2_Silent_p.P903P|NLRP4_uc010etf.2_Silent_p.P753P	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	978							ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGAGAAATCCTAACCTGACCA	0.448													G	56392902	T	G	56392902	2	3	12	1	0	0	0	0	0	0	0	1	10479	1509	53	5		5	NLRP4	19	56392902	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	942194	56392902	2736081	1184	11192											
UBE2M	9040	broad.mit.edu	37	chr19	59068128	59068128	+	Frame_Shift_Del	DEL	G	G	-													attgtctcacacttcaccttGgggggatcatgcgggtaacc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:59068127_59068127TG>T	uc002qtl.4	-	3	869	c.274_274CA>A	c.(274-276)aagfs	p.K92fs	CHMP2A_uc002qti.3_5'Flank|CHMP2A_uc002qtj.3_5'Flank|CHMP2A_uc002qtk.3_5'Flank|LOC100131691_uc002qtm.3_5'Flank	NM_003969	NP_003960	P61081	UBC12_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2M (UBE2M), mRNA.	92					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CACTTCACCTTGGGGGGATCA	0.577													-	59068128	G	-	59068128	7	5	12	1	0	1	0	1	0	0	0	0	16862	1335	47	0	290	0	UBE2M	19	59068128	Frame_Shift_Del	DEL	G	TCGA-BR-4257-01A-01D-1126-08	2675226	59068128	60855	1185	11193											
ANGPT4	51378	broad.mit.edu	37	chr20	870947	870947	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatgggggccgtctgattcTgggccatttgctgctggacc	15	11	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:870947T>C	uc002wei.2	-	2	477	c.374A>G	c.(373-375)CAG>CGG	p.Q125R	ANGPT4_uc010zpn.1_Missense_Mutation_p.Q119R	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	angiopoietin 4 precursor	125	Potential.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			ovary(2)	2						CGTCTGATTCTGGGCCATTTG	0.617													C	870947	T	C	870947	3	2	12	1	0	0	0	0	1	0	0	0	612	1580	55	3	1169	3	ANGPT4	20	870947	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08		870947	62154573	1186	11194											
TGM6	343641	broad.mit.edu	37	chr20	2384126	2384126	+	Frame_Shift_Del	DEL	C	C	-													ctggcaggttctggatgccaCcccccaggaggagagtgaag							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:2384125_2384125AC>A	uc002wfy.1	+	7	1133	c.1072_1072AC>A	c.(1072-1074)accfs	p.T358fs	TGM6_uc010gal.1_Frame_Shift_Del_p.T358fs	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	358					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TCTGGATGCCACCCCCCAGGA	0.577													-	2384126	C	-	2384126	7	5	12	1	0	1	0	1	0	0	0	0	15831	507	18	0	1103	0	TGM6	20	2384126	Frame_Shift_Del	DEL	C	TCGA-BR-4257-01A-01D-1126-08	1513179	2384126	60641394	1187	11195											
TGM6	343641	broad.mit.edu	37	chr20	2384384	2384384	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcgtgtatactcaaacacGaagaagattgggagatgcat	12	6	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:2384384G>A	uc002wfy.1	+	9	1312	c.1251G>A	c.(1249-1251)ACG>ACA	p.T417T	TGM6_uc010gal.1_Silent_p.T417T	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	417					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	ACTCAAACACGAAGAAGATTG	0.577													A	2384384	G	A	2384384	2	1	12	1	0	0	0	0	0	0	0	1	15831	1045	37	1		1	TGM6	20	2384384	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	258	2384384	60641136	1188	11196											
GNRH2	2797	broad.mit.edu	37	chr20	3025077	3025077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccatggccagctccaggcGaggcctcctgctcctgctgc	12	17	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:3025077G>A	uc002whr.1	+	2	68	c.17G>A	c.(16-18)CGA>CAA	p.R6Q	GNRH2_uc002whp.1_Missense_Mutation_p.R6Q|GNRH2_uc002whq.1_Missense_Mutation_p.R6Q|GNRH2_uc010gau.1_Missense_Mutation_p.R6Q|MRPS26_uc002whs.2_5'Flank	NM_001501	NP_001492	O43555	GON2_HUMAN	gonadotropin-releasing hormone 2 isoform a	6					multicellular organismal development|signal transduction	extracellular region|soluble fraction	hormone activity				0						AGCTCCAGGCGAGGCCTCCTG	0.617													A	3025077	G	A	3025077	3	1	12	1	0	0	0	0	1	0	0	0	6548	1058	37	1	19	1	GNRH2	20	3025077	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	640693	3025077	60000443	1189	11197											
ProSAPiP1	9762	broad.mit.edu	37	chr20	3145701	3145701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctcccgcagctgcgagCgcagtcccacgatctcactc	10	19	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:3145701C>T	uc002wia.1	-	3	2819	c.1421G>A	c.(1420-1422)CGC>CAC	p.R474H	ProSAPiP1_uc002wib.1_Missense_Mutation_p.R428H	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	474	Potential.					cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						CAGCTGCGAGCGCAGTCCCAC	0.652													T	3145701	C	T	3145701	3	4	12	1	0	0	0	0	1	0	0	0	12870	768	27	1	604	1	ProSAPiP1	20	3145701	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	120624	3145701	59879819	1190	11198											
ADAM33	80332	broad.mit.edu	37	chr20	3652952	3652952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtcacccatggcctggcGgcacagcgctccagccggct	12	17	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:3652952G>A	uc002wit.2	-	14	1513	c.1426C>T	c.(1426-1428)CGC>TGC	p.R476C	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.R476C|ADAM33_uc002wis.2_5'UTR|ADAM33_uc002wiu.2_Missense_Mutation_p.R476C|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	476	Extracellular (Potential).|Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4						ATGGCCTGGCGGCACAGCGCT	0.662													A	3652952	G	A	3652952	3	1	12	1	0	0	0	0	1	0	0	0	250	1116	39	1	1051	1	ADAM33	20	3652952	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	507251	3652952	59372568	1191	11199											
ADRA1D	146	broad.mit.edu	37	chr20	4202257	4202257	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccacctcgtgtgggacgccTagggacacagcctccacctc	11	17	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:4202257T>C	uc002wkr.2	-	2	1687	c.1632A>G	c.(1630-1632)CTA>CTG	p.L544L		NM_000678	NP_000669	P25100	ADA1D_HUMAN	alpha-1D-adrenergic receptor	544	Cytoplasmic (By similarity).			KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity				0					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	GTGGGACGCCTAGGGACACAG	0.672													C	4202257	T	C	4202257	2	2	12	1	0	0	0	0	0	0	0	1	336	1509	53	3		3	ADRA1D	20	4202257	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	549305	4202257	58823263	1192	11200											
MCM8	84515	broad.mit.edu	37	chr20	5933111	5933111	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcaacaaagaccccacagTcaatgcagtcaacattggat	6	11	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:5933111T>C	uc002wmi.2	+	3	567	c.190T>C	c.(190-192)TCA>CCA	p.S64P	TRMT6_uc002wmh.1_5'Flank|TRMT6_uc010zra.1_5'Flank|TRMT6_uc010gbn.1_5'Flank|TRMT6_uc010gbo.1_5'Flank|MCM8_uc002wmj.2_Missense_Mutation_p.S64P|MCM8_uc002wmk.2_Missense_Mutation_p.S64P|MCM8_uc002wml.2_Missense_Mutation_p.S64P|MCM8_uc010gbp.2_Missense_Mutation_p.S64P	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	64					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1						GACCCCACAGTCAATGCAGTC	0.343													C	5933111	T	C	5933111	3	2	12	1	0	0	0	0	1	0	0	0	9393	1667	58	3	196	3	MCM8	20	5933111	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1730854	5933111	57092409	1193	11201											
FLRT3	23767	broad.mit.edu	37	chr20	14307651	14307651	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcaaaccccagggaattgTgctaaggtgattacgggaca	14	8	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:14307651T>C	uc002wov.1	-	3	969	c.502A>G	c.(502-504)ACA>GCA	p.T168A	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.T168A	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	168	Extracellular (Potential).|LRR 5.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CAGGGAATTGTGCTAAGGTGA	0.453													C	14307651	T	C	14307651	3	2	12	1	0	0	0	0	1	0	0	0	5940	1696	59	3	1451	3	FLRT3	20	14307651	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	8374540	14307651	48717869	1194	11202											
THBD	7056	broad.mit.edu	37	chr20	23028798	23028798	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaccccggagcagaagccGccgttttcgcactcgtcgat	10	16	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:23028798G>A	uc002wss.2	-	1	1504	c.1344C>T	c.(1342-1344)GGC>GGT	p.G448G	THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Silent_p.G389G	NM_000361	NP_000352	P07204	TRBM_HUMAN	thrombomodulin precursor	448	EGF-like 6; calcium-binding (Potential).|Extracellular (Potential).				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity				0	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	AGCAGAAGCCGCCGTTTTCGC	0.637													A	23028798	G	A	23028798	2	1	12	1	0	0	0	0	0	0	0	1	15849	1074	38	1		1	THBD	20	23028798	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	8721147	23028798	39996722	1195	11203											
TMEM90B	79953	broad.mit.edu	37	chr20	24524119	24524119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagacagcctcgagtaccCggatgggaagttcattgacc	11	11	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:24524119C>T	uc002wtw.1	+	2	1019	c.386C>T	c.(385-387)CCG>CTG	p.P129L		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	transmembrane protein 90B	129	Cytoplasmic (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane					0						CTCGAGTACCCGGATGGGAAG	0.607													T	24524119	C	T	24524119	3	4	12	1	0	0	0	0	1	0	0	0	16216	652	23	1	388	1	TMEM90B	20	24524119	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1495321	24524119	38501401	1196	11204											
ACSS1	84532	broad.mit.edu	37	chr20	25004171	25004171	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgagccaccaggacatgCtgcacggtggggcagtgctt	15	11	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:25004171C>T	uc002wub.2	-	4	1616	c.738G>A	c.(736-738)CAG>CAA	p.Q246Q	ACSS1_uc002wuc.2_Silent_p.Q246Q|ACSS1_uc010gdc.2_Intron|ACSS1_uc002wud.1_5'Flank|ACSS1_uc002wua.2_Silent_p.Q163Q	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	246					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCAGGACATGCTGCACGGTGG	0.587													T	25004171	C	T	25004171	2	4	12	1	0	0	0	0	0	0	0	1	188	796	28	2		2	ACSS1	20	25004171	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	480052	25004171	38021349	1197	11205											
NINL	22981	broad.mit.edu	37	chr20	25493618	25493618	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acttagaaccattcacatacTttggagggatggcactggag	11	8	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:25493618T>G	uc002wux.1	-	4	376	c.302A>C	c.(301-303)AAG>ACG	p.K101T	NINL_uc010gdn.1_Missense_Mutation_p.K101T|NINL_uc010gdo.1_5'UTR|NINL_uc010ztf.1_Missense_Mutation_p.K117T	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	101					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						ATTCACATACTTTGGAGGGAT	0.582													G	25493618	T	G	25493618	3	3	12	1	0	0	0	0	1	0	0	0	10420	1609	56	5	3930	5	NINL	20	25493618	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	489447	25493618	37531902	1198	11206											
DEFB119	245932	broad.mit.edu	37	chr20	29965051	29965051	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatggtaatcaccagcactcAaggtagtcttggccactgct	9	11	3	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:29965051A>G	uc002wvt.2	-	2	373	c.253T>C	c.(253-255)TGA>CGA	p.*85R	DEFB119_uc002wvs.2_3'UTR	NM_153289	NP_695021	Q8N690	DB119_HUMAN	defensin, beta 119 isoform a precursor	85					defense response to bacterium	extracellular region					0	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ACCAGCACTCAAGGTAGTCTT	0.488													G	29965051	A	G	29965051	4	3	12	1	0	0	0	0	0	0	0	0	4407	143	5	3	5	3	DEFB119	20	29965051	Nonstop_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	4471433	29965051	33060469	1199	11207											
KIF3B	9371	broad.mit.edu	37	chr20	30904405	30904405	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaacttaaagagacatacAgctcattgcagcaagaggtg	11	7	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:30904405A>C	uc002wxq.2	+	4	1749	c.1582A>C	c.(1582-1584)AGC>CGC	p.S528R	KIF3B_uc010ztw.1_Missense_Mutation_p.S466R	NM_004798	NP_004789	O15066	KIF3B_HUMAN	kinesin family member 3B	528	Potential.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			central_nervous_system(3)|ovary(2)	5			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGAGACATACAGCTCATTGCA	0.438													C	30904405	A	C	30904405	3	2	12	1	0	0	0	0	1	0	0	0	8301	188	7	5	1592	5	KIF3B	20	30904405	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	939354	30904405	32121115	1200	11208											
MYH7B	57644	broad.mit.edu	37	chr20	33577633	33577633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagctctacgacaaccacGcggggaagtcacccaatttc	8	15	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:33577633G>A	uc002xbi.1	+	18	1896	c.1804G>A	c.(1804-1806)GCG>ACG	p.A602T	MIR499_hsa-mir-499|MI0003183_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	560	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGACAACCACGCGGGGAAGTC	0.612													A	33577633	G	A	33577633	3	1	12	1	0	0	0	0	1	0	0	0	10040	1087	38	1	1874	1	MYH7B	20	33577633	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2673228	33577633	29447887	1201	11209											
RBM12	10137	broad.mit.edu	37	chr20	34242562	34242562	+	Frame_Shift_Del	DEL	G	G	-													tgggtggcacagaaggaactGggggaatcgggggcacagga							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:34242561_34242561TG>T	uc021wcr.1	-	0	684	c.684_684CA>A	c.(682-684)ccafs	p.P228fs	CPNE1_uc010zvj.2_5'Flank|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Frame_Shift_Del_p.P228fs|RBM12_uc002xds.3_Frame_Shift_Del_p.P228fs|RBM12_uc002xdr.3_Frame_Shift_Del_p.P228fs|RBM12_uc021wcq.1_Frame_Shift_Del_p.P228fs	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	228	Pro-rich.					nucleus	RNA binding|nucleotide binding|protein binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CAGAAGGAACTGGGGGAATCG	0.597													-	34242562	G	-	34242562	7	5	12	1	0	1	0	1	0	0	0	0	13113	1348	47	0	2119	0	RBM12	20	34242562	Frame_Shift_Del	DEL	G	TCGA-BR-4257-01A-01D-1126-08	664929	34242562	28782958	1202	11210											
DLGAP4	22839	broad.mit.edu	37	chr20	35125326	35125326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgaccgcccagcgtgacaCggggtggagtcgccccagcc	14	18	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:35125326C>T	uc002xff.2	+	8	2302	c.1867C>T	c.(1867-1869)CGG>TGG	p.R623W	DLGAP4_uc010zvp.1_Missense_Mutation_p.R623W|DLGAP4_uc002xfg.2_Translation_Start_Site|DLGAP4_uc002xfh.2_Missense_Mutation_p.R84W|DLGAP4_uc002xfi.2_Translation_Start_Site|DLGAP4_uc002xfj.2_5'Flank	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	623					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CAGCGTGACACGGGGTGGAGT	0.647													T	35125326	C	T	35125326	3	4	12	1	0	0	0	0	1	0	0	0	4562	527	19	1	1924	1	DLGAP4	20	35125326	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	882764	35125326	27900194	1203	11211											
NNAT	4826	broad.mit.edu	37	chr20	36149740	36149740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattcttggaaccatggcgGcagtggcggcggcctcggct	15	13	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:36149740G>A	uc002xhd.2	+	1	134	c.7G>A	c.(7-9)GCA>ACA	p.A3T	BLCAP_uc002xha.2_5'UTR|BLCAP_uc002xhb.2_Intron|BLCAP_uc002xhc.2_Intron|NNAT_uc002xhe.2_Missense_Mutation_p.A3T	NM_005386	NP_005377	Q16517	NNAT_HUMAN	neuronatin isoform alpha	3					brain development|protein lipoylation|transport						0		Myeloproliferative disorder(115;0.00878)				AACCATGGCGGCAGTGGCGGC	0.637													A	36149740	G	A	36149740	3	1	12	1	0	0	0	0	1	0	0	0	10508	1203	42	2	9	2	NNAT	20	36149740	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1024414	36149740	26875780	1204	11212											
PPP1R16B	26051	broad.mit.edu	37	chr20	37536802	37536802	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacctacaacggggacatcaGggagaccaggacagaccaag	12	12	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:37536802G>T	uc002xje.2	+	10	1349	c.1160G>T	c.(1159-1161)AGG>ATG	p.R387M	PPP1R16B_uc010ggc.2_Missense_Mutation_p.R345M	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	387					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				GGGGACATCAGGGAGACCAGG	0.597													T	37536802	G	T	37536802	3	4	12	1	0	0	0	0	1	0	0	0	12366	1000	35	5	1194	5	PPP1R16B	20	37536802	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1387062	37536802	25488718	1205	11213											
FAM83D	81610	broad.mit.edu	37	chr20	37570621	37570621	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgattgcagtggtcatggAcgtgttcacagacatcgaca	13	8	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:37570621A>G	uc002xjg.2	+	2	634	c.593A>G	c.(592-594)GAC>GGC	p.D198G	FAM83D_uc002xjf.2_Missense_Mutation_p.D198G	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	hypothetical protein LOC81610	168					cell division|mitosis	cytoplasm|spindle pole				ovary(3)	3		Myeloproliferative disorder(115;0.00878)				GTGGTCATGGACGTGTTCACA	0.493													G	37570621	A	G	37570621	3	3	12	1	0	0	0	0	1	0	0	0	5636	275	10	3	599	3	FAM83D	20	37570621	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	33819	37570621	25454899	1206	11214											
DHX35	60625	broad.mit.edu	37	chr20	37647462	37647462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggtctggacaaagactGtcgcctaactgaaccgcttg	12	11	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:37647462G>A	uc002xjh.2	+	15	1429	c.1418G>A	c.(1417-1419)TGT>TAT	p.C473Y	DHX35_uc010zwa.1_Missense_Mutation_p.C318Y|DHX35_uc010zwb.1_Missense_Mutation_p.C318Y|DHX35_uc010zwc.1_Missense_Mutation_p.C442Y	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	473						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				GACAAAGACTGTCGCCTAACT	0.443													A	37647462	G	A	37647462	3	1	12	1	0	0	0	0	1	0	0	0	4508	1377	48	4	1476	4	DHX35	20	37647462	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	76841	37647462	25378058	1207	11215											
HNF4A	3172	broad.mit.edu	37	chr20	43047140	43047140	+	Frame_Shift_Del	DEL	G	G	-													gatccatggtgttcaaggacGtgctgctcctaggtgaggcg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:43047140delG	uc002xma.2	+	6	813	c.724delG	c.(724-726)GTGfs	p.V242fs	HNF4A_uc002xlt.2_Frame_Shift_Del_p.V220fs|HNF4A_uc002xlu.2_Frame_Shift_Del_p.V220fs|HNF4A_uc002xlv.2_Frame_Shift_Del_p.V220fs|HNF4A_uc002xly.2_Frame_Shift_Del_p.V242fs|HNF4A_uc002xlz.2_Frame_Shift_Del_p.V242fs|HNF4A_uc010ggq.2_Frame_Shift_Del_p.V235fs	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	242					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GTTCAAGGACGTGCTGCTCCT	0.607													-	43047140	G	-	43047140	7	5	12	1	0	1	0	1	0	0	0	0	7253	1145	40	0	799	0	HNF4A	20	43047140	Frame_Shift_Del	DEL	G	TCGA-BR-4257-01A-01D-1126-08	5399678	43047140	19978380	1208	11216											
YWHAB	7529	broad.mit.edu	37	chr20	43535058	43535058	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccagggagacgaaggagaCgctggggagggagagaacta	18	6	0	3	rs150381005	by1000genomes	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:43535058C>T	uc002xmt.2	+	7	1002	c.720C>T	c.(718-720)GAC>GAT	p.D240D	YWHAB_uc002xmu.2_Silent_p.D240D	NM_003404	NP_003395	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan	240					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			kidney(2)|ovary(1)|breast(1)	4		Myeloproliferative disorder(115;0.0122)				ACGAAGGAGACGCTGGGGAGG	0.448													T	43535058	C	T	43535058	2	4	12	1	0	0	0	0	0	0	0	1	17498	535	19	1		1	YWHAB	20	43535058	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	487918	43535058	19490462	1209	11217											
SYS1	90196	broad.mit.edu	37	chr20	43995543	43995543	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgctgtacttcatccggCgaggaaagcagtgtctggat	13	9	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:43995543C>T	uc002xnv.2	+	4	517	c.259C>T	c.(259-261)CGA>TGA	p.R87*	SYS1_uc010gha.2_RNA|SYS1_uc002xnw.1_Intron|SYS1-DBNDD2_uc002xnx.2_Intron	NM_033542	NP_291020	Q8N2H4	SYS1_HUMAN	SYS1 Golgi-localized integral membrane protein	87					protein transport	Golgi membrane|integral to membrane				skin(1)	1		Myeloproliferative disorder(115;0.0122)				CTTCATCCGGCGAGGAAAGCA	0.567													T	43995543	C	T	43995543	4	4	12	1	0	0	0	0	0	1	0	0	15461	760	27	1	269	1	SYS1	20	43995543	Nonsense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	460485	43995543	19029977	1210	11218											
KCNB1	3745	broad.mit.edu	37	chr20	48098564	48098564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctcccgtagggtctcggCctcacgcttgagctcctcgt	11	17	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:48098564C>T	uc002xur.1	-	1	618	c.454G>A	c.(454-456)GCC>ACC	p.A152T	KCNB1_uc002xus.1_Missense_Mutation_p.A152T	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	152	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGGGTCTCGGCCTCACGCTTG	0.582													T	48098564	C	T	48098564	3	4	12	1	0	0	0	0	1	0	0	0	8012	739	26	2	2130	2	KCNB1	20	48098564	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	4103021	48098564	14926956	1211	11219											
PTGIS	5740	broad.mit.edu	37	chr20	48164538	48164538	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggagaacggtgacatAcctgcccccaaccagtatct	9	14	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:48164538A>G	uc002xut.2	-	3	271	c.217T>C	c.(217-219)TAT>CAT	p.Y73H	PTGIS_uc010zyi.1_Intron	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	prostaglandin I2 synthase	73					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	ACGGTGACATACCTGCCCCCA	0.557													G	48164538	A	G	48164538	3	3	12	1	0	0	0	0	1	0	0	0	12752	391	14	3	1317	3	PTGIS	20	48164538	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	65974	48164538	14860982	1212	11220											
PARD6B	84612	broad.mit.edu	37	chr20	49366959	49366959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagcaagcagctcaaacacGgaatttgaaacacatgctcc	7	11	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:49366959G>A	uc002xvo.2	+	3	1296	c.1053G>A	c.(1051-1053)ACG>ACA	p.T351T		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	PAR-6 beta	351					axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			kidney(1)	1						GCTCAAACACGGAATTTGAAA	0.398													A	49366959	G	A	49366959	2	1	12	1	0	0	0	0	0	0	0	1	11446	1103	39	1		1	PARD6B	20	49366959	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1202421	49366959	13658561	1213	11221											
SALL4	57167	broad.mit.edu	37	chr20	50408031	50408031	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggaagcaaagcgctcgGgaggcgggacatgacgttcg	17	9	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:50408031G>T	uc002xwh.3	-	2	1092	c.991C>A	c.(991-993)CCG>ACG	p.P331T	SALL4_uc010gii.2_Missense_Mutation_p.P331T|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	331					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						AAAGCGCTCGGGAGGCGGGAC	0.642													T	50408031	G	T	50408031	3	4	12	1	0	0	0	0	1	0	0	0	13813	1232	43	5	2182	5	SALL4	20	50408031	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1041072	50408031	12617489	1214	11222											
COL9A3	1299	broad.mit.edu	37	chr20	61467685	61467685	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggggaagccgggagttccGgtacgtcgcttttccggctt	15	11	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:61467685G>T	uc002ydm.2	+	28	1551	c.1548G>T	c.(1546-1548)CCG>CCT	p.P516P	COL9A3_uc002ydn.2_5'Flank	NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	516	Triple-helical region 3 (COL3).				axon guidance	collagen type IX					0	Breast(26;5.68e-08)					CGGGAGTTCCGGTACGTCGCT	0.632													T	61467685	G	T	61467685	2	4	12	1	0	0	0	0	0	0	0	1	3709	1130	39	5		5	COL9A3	20	61467685	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	11059654	61467685	1557835	1215	11223											
DIDO1	11083	broad.mit.edu	37	chr20	61511012	61511012	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcgtcgggctcctccagcGgcttctctttgggccccacg	14	16	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:61511012G>T	uc002ydr.1	-	16	6560	c.6296C>A	c.(6295-6297)CCG>CAG	p.P2099Q	DIDO1_uc002yds.1_Missense_Mutation_p.P2099Q	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	2099					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CTCCTCCAGCGGCTTCTCTTT	0.527													T	61511012	G	T	61511012	3	4	12	1	0	0	0	0	1	0	0	0	4522	1116	39	5	430	5	DIDO1	20	61511012	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	43327	61511012	1514508	1216	11224											
DIDO1	11083	broad.mit.edu	37	chr20	61528048	61528048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccaccaaagcagcggagCcagggaacttcttggaggca	12	13	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:61528048C>T	uc002ydr.1	-	7	2153	c.1889G>A	c.(1888-1890)GGC>GAC	p.G630D	DIDO1_uc002yds.1_Missense_Mutation_p.G630D|DIDO1_uc002ydt.1_Missense_Mutation_p.G630D|DIDO1_uc002ydu.1_Missense_Mutation_p.G630D	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	630					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					AGCAGCGGAGCCAGGGAACTT	0.647													T	61528048	C	T	61528048	3	4	12	1	0	0	0	0	1	0	0	0	4522	739	26	2	4902	2	DIDO1	20	61528048	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	17036	61528048	1497472	1217	11225											
KCNQ2	3785	broad.mit.edu	37	chr20	62038661	62038661	+	Frame_Shift_Del	DEL	G	G	-													agtaggcctcggtctctgtcGgggggatgcccatccgctgc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:62038661delG	uc002yey.1	-	17	2132	c.1955delC	c.(1954-1956)CCGfs	p.P652fs	KCNQ2_uc002yez.1_Frame_Shift_Del_p.P621fs|KCNQ2_uc002yfa.1_Frame_Shift_Del_p.P634fs|KCNQ2_uc002yfb.1_Frame_Shift_Del_p.P624fs	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	652	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GGTCTCTGTCGGGGGGATGCC	0.642													-	62038661	G	-	62038661	7	5	12	1	0	1	0	1	0	0	0	0	8083	1116	39	0	667	0	KCNQ2	20	62038661	Frame_Shift_Del	DEL	G	TCGA-BR-4257-01A-01D-1126-08	510613	62038661	986859	1218	11226											
ZBTB46	140685	broad.mit.edu	37	chr20	62421833	62421833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggtgagcgccaggtgcGctgagtacatgaagtcgatg	16	8	0	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:62421833G>A	uc002ygv.1	-	2	479	c.278C>T	c.(277-279)GCG>GTG	p.A93V	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	93	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CGCCAGGTGCGCTGAGTACAT	0.602													A	62421833	G	A	62421833	3	1	12	1	0	0	0	0	1	0	0	0	17544	1087	38	1	1507	1	ZBTB46	20	62421833	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	383172	62421833	603687	1219	11227											
MYT1	4661	broad.mit.edu	37	chr20	62858781	62858781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcaggtgccccacgcccGgctgtgacggctctggccac	13	17	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:62858781G>A	uc002yii.2	+	17	2906	c.2542G>A	c.(2542-2544)GGC>AGC	p.G848S	MYT1_uc002yih.2_Missense_Mutation_p.G527S|MYT1_uc002yij.2_Missense_Mutation_p.G507S	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	848	C2HC-type 5.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCCCACGCCCGGCTGTGACGG	0.677													A	62858781	G	A	62858781	3	1	12	1	0	0	0	0	1	0	0	0	10106	1116	39	1	2600	1	MYT1	20	62858781	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	436948	62858781	166739	1220	11228											
TMPRSS15	5651	broad.mit.edu	37	chr21	19737461	19737461	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagatcttgtattaccgtaTgatccactggcagacaacac	7	10	1	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:19737461T>C	uc002ykw.2	-	7	800	c.769A>G	c.(769-771)ATA>GTA	p.I257V		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	257	Extracellular (Potential).|CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						TATTACCGTATGATCCACTGG	0.348													C	19737461	T	C	19737461	3	2	12	1	0	0	0	0	1	0	0	0	16243	1464	51	3	2366	3	TMPRSS15	21	19737461	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08		19737461	28392434	1221	11229											
NCAM2	4685	broad.mit.edu	37	chr21	22849745	22849745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagattgggatattctgaacCgacagtttatgaattcagca	9	6	2	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:22849745C>T	uc002yld.1	+	15	2279	c.2030C>T	c.(2029-2031)CCG>CTG	p.P677L	NCAM2_uc011acb.1_Missense_Mutation_p.P535L	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	677	Fibronectin type-III 2.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TATTCTGAACCGACAGTTTAT	0.378													T	22849745	C	T	22849745	3	4	12	1	0	0	0	0	1	0	0	0	10203	652	23	1	2088	1	NCAM2	21	22849745	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3112284	22849745	25280150	1222	11230											
GABPA	2551	broad.mit.edu	37	chr21	27136926	27136926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaacaatggccaaatccaaCtatggcagtttttgctagaa	8	8	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:27136926C>T	uc002ylx.3	+	9	1491	c.964C>T	c.(964-966)CTA>TTA	p.L322L	GABPA_uc002yly.3_Silent_p.L322L	NM_002040	NP_002031	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha	322	ETS.				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			ovary(1)|central_nervous_system(1)	2						CCAAATCCAACTATGGCAGTT	0.413													T	27136926	C	T	27136926	2	4	12	1	0	0	0	0	0	0	0	1	6157	564	20	4		4	GABPA	21	27136926	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	4287181	27136926	20992969	1223	11231											
ADAMTS1	9510	broad.mit.edu	37	chr21	28212698	28212698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggaagtgtttggtttgaCacaccagcaccccaccagag	11	12	0	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:28212698C>T	uc002ymf.2	-	5	2017	c.1562G>A	c.(1561-1563)TGT>TAT	p.C521Y		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	521	Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		TTTGGTTTGACACACCAGCAC	0.537													T	28212698	C	T	28212698	3	4	12	1	0	0	0	0	1	0	0	0	255	478	17	4	1361	4	ADAMTS1	21	28212698	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1075772	28212698	19917197	1224	11232											
ADAMTS1	9510	broad.mit.edu	37	chr21	28214961	28214961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagcatggtttccacataGcggtgactggacacaaatcg	10	10	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:28214961G>A	uc002ymf.2	-	2	1229	c.774C>T	c.(772-774)CGC>CGT	p.R258R		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	258	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		TTTCCACATAGCGGTGACTGG	0.453													A	28214961	G	A	28214961	2	1	12	1	0	0	0	0	0	0	0	1	255	958	34	2		2	ADAMTS1	21	28214961	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2263	28214961	19914934	1225	11233											
HMGN1	3150	broad.mit.edu	37	chr21	40720231	40720231	+	Frame_Shift_Del	DEL	T	T	-													ggcttaccttcgctgctgccTttttcggcttcgcttccact							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:40720230_40720230CT>C	uc002yxo.3	-	3	318	c.114_114AG>G	c.(112-114)aagfs	p.K38fs	HMGN1_uc021wjh.1_5'Flank	NM_004965	NP_004956	P05114	HMGN1_HUMAN	Homo sapiens high mobility group nucleosome binding domain 1 (HMGN1), mRNA.	38					positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				TCGCTGCTGCCTTTTTCGGCT	0.547													-	40720231	T	-	40720231	7	5	12	1	0	1	0	1	0	0	0	0	7234	1609	56	0	201	0	HMGN1	21	40720231	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08	12505270	40720231	7409664	1226	11234											
DSCAM	1826	broad.mit.edu	37	chr21	41514615	41514616	+	Frame_Shift_Ins	INS	-	-	G													ctatggcttggacattttcgINSggggggtaactgggcactga							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:41514614_41514615C>CG	uc002yyq.1	-	17	3728_3729	c.3276_3277G>CG	c.(3274-3279)cccgaafs	p.P1092fs	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													G	41514616	-	G	41514615	7	5	12	1	0	1	1	0	0	0	0	0	4768	1103	39	0	2826	0	DSCAM	21	41514615	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	794384	41514615	6615280	1227	11235											
PLAC4	191585	broad.mit.edu	37	chr21	42551242	42551243	+	Frame_Shift_Del	DEL	GA	GA	-													ttgagggtgtcagggtgagtGagagtgtccagggtgaggag							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:42551242_42551243delGA	uc002yyz.2	-	1	5924_5925	c.313_314delTC	c.(313-315)TCAfs	p.S105fs	BACE2_uc002yyw.2_Intron|BACE2_uc002yyx.2_Intron|BACE2_uc002yyy.2_Intron	NM_182832	NP_878252	Q8WY50	PLAC4_HUMAN	placenta-specific 4	105											0		Prostate(19;2.29e-06)				cagggtgagtgagagtgtccag	0.079													-	42551243	GA	-	42551242	7	5	12	1	0	1	0	1	0	0	0	0	12014	1294	45	0	142	0	PLAC4	21	42551242	Frame_Shift_Del	DEL	GA	TCGA-BR-4257-01A-01D-1126-08	1036627	42551242	5578653	1228	11236											
ZNF295	49854	broad.mit.edu	37	chr21	43412000	43412000	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctcgtggcttccttgctcTaggagagaagagagcttagc	13	10	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:43412000T>C	uc002zab.3	-	3	2419	c.2205A>G	c.(2203-2205)CTA>CTG	p.L735L	ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Silent_p.L735L|ZNF295_uc002zaa.3_Silent_p.L735L	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	735					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						TTCCTTGCTCTAGGAGAGAAG	0.537													C	43412000	T	C	43412000	2	2	12	1	0	0	0	0	0	0	0	1	17824	1536	53	3		3	ZNF295	21	43412000	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	860758	43412000	4717895	1229	11237											
TMPRSS3	64699	broad.mit.edu	37	chr21	43810131	43810131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgacaggatctgtgcaGcaacagcatctgcatctgaa	11	10	3	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:43810131G>A	uc002zbb.2	-	3	311	c.110C>T	c.(109-111)GCT>GTT	p.A37V	TMPRSS3_uc002zaz.2_5'Flank|TMPRSS3_uc002zba.2_5'UTR|TMPRSS3_uc002zbc.2_Missense_Mutation_p.A37V|TMPRSS3_uc002zbd.2_Missense_Mutation_p.A37V	NM_024022	NP_076927	P57727	TMPS3_HUMAN	transmembrane protease, serine 3 isoform 1	37	Cytoplasmic (Potential).				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			ovary(2)|breast(1)	3						GATCTGTGCAGCAACAGCATC	0.443													A	43810131	G	A	43810131	3	1	12	1	0	0	0	0	1	0	0	0	16245	971	34	2	1381	2	TMPRSS3	21	43810131	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	398131	43810131	4319764	1230	11238											
PDXK	8566	broad.mit.edu	37	chr21	45168941	45168941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcttgcagacattatcacGcccaaccagtttgaggccga	9	14	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:45168941G>A	uc002zdm.3	+	6	642	c.444G>A	c.(442-444)ACG>ACA	p.T148T	PDXK_uc010gpj.2_Silent_p.T148T|PDXK_uc002zdn.3_Silent_p.T120T|PDXK_uc002zdq.3_Silent_p.T75T	NM_003681	NP_003672	O00764	PDXK_HUMAN	pyridoxal kinase	148					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding				0				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	ACATTATCACGCCCAACCAGT	0.348													A	45168941	G	A	45168941	2	1	12	1	0	0	0	0	0	0	0	1	11697	1074	38	1		1	PDXK	21	45168941	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1358810	45168941	2960954	1231	11239											
PFKL	5211	broad.mit.edu	37	chr21	45741668	45741668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcggctggcatgaatgcGgccgtgcgctcggcggtgcg	19	13	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:45741668G>A	uc002zel.2	+	13	1307	c.1248G>A	c.(1246-1248)GCG>GCA	p.A416A	PFKL_uc002zek.2_Silent_p.A463A|PFKL_uc002zem.2_Silent_p.A3A|PFKL_uc002zen.2_Silent_p.A3A	NM_002626	NP_002617	P17858	K6PL_HUMAN	liver phosphofructokinase	416					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding				0				Colorectal(79;0.0811)		GCATGAATGCGGCCGTGCGCT	0.647													A	45741668	G	A	45741668	2	1	12	1	0	0	0	0	0	0	0	1	11764	1103	39	1		1	PFKL	21	45741668	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	572727	45741668	2388227	1232	11240											
COL18A1	80781	broad.mit.edu	37	chr21	46917558	46917559	+	Frame_Shift_Ins	INS	-	-	C													ggcgccaaaggagaagtgggINScccccccggaccaccaggtg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:46917558_46917559insC	uc011afs.1	+	31	3932_3933	c.3911_3912insC	c.(3910-3912)GGCfs	p.G1304fs	COL18A1_uc002zhg.2_Frame_Shift_Ins_p.G889fs|COL18A1_uc002zhi.2_Frame_Shift_Ins_p.G1069fs	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1304	Triple-helical region 7 (COL7).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGAGAAGTGGGCCCCCCCGGAC	0.639													C	46917559	-	C	46917558	7	5	12	1	0	1	1	0	0	0	0	0	3675	1203	42	0	4147	0	COL18A1	21	46917558	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	1175890	46917558	1212337	1233	11241											
CECR1	51816	broad.mit.edu	37	chr22	17663531	17663531	+	Frame_Shift_Del	DEL	T	T	-													agacttctatggggatgtccTttttccaggagtaagtcctg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:17663530_17663530CT>C	uc002zmk.1	-	6	1415	c.1203_1203AG>G	c.(1201-1203)aagfs	p.K401fs	CECR1_uc010gqu.1_Frame_Shift_Del_p.K401fs|CECR1_uc011agi.1_Frame_Shift_Del_p.K359fs|CECR1_uc002zmj.1_Frame_Shift_Del_p.K160fs	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	401					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	p.K401N(2)		endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TGGGGATGTCCTTTTTCCAGG	0.483													-	17663531	T	-	17663531	7	5	12	1	0	1	0	1	0	0	0	0	3205	1609	56	0	345	0	CECR1	22	17663531	Frame_Shift_Del	DEL	T	TCGA-BR-4257-01A-01D-1126-08		17663531	33641035	1234	11242											
CECR2	27443	broad.mit.edu	37	chr22	17978463	17978463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggatgcagacagtctcCgtgtggagccattgggtgaa	15	9	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:17978463C>T	uc010gqw.1	+	3	427	c.301C>T	c.(301-303)CGT>TGT	p.R101C	CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'UTR	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	143					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		AGACAGTCTCCGTGTGGAGCC	0.488													T	17978463	C	T	17978463	3	4	12	1	0	0	0	0	1	0	0	0	3206	652	23	1	313	1	CECR2	22	17978463	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	314932	17978463	33326103	1235	11243											
ZNF74	7625	broad.mit.edu	37	chr22	20761010	20761010	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttaagtgtgagaaatgtgggGagatgttcaactggagctcg	15	4	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:20761010G>T	uc010gsm.2	+	6	1899	c.1687G>T	c.(1687-1689)GAG>TAG	p.E563*	ZNF74_uc002zsg.2_Nonsense_Mutation_p.E492*|ZNF74_uc002zsh.2_Nonsense_Mutation_p.E563*|ZNF74_uc002zsi.2_Nonsense_Mutation_p.E492*|ZNF74_uc010gsn.2_Nonsense_Mutation_p.E492*	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	563	C2H2-type 12.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAAATGTGGGGAGATGTTCAA	0.463													T	20761010	G	T	20761010	4	4	12	1	0	0	0	0	0	1	0	0	18124	1175	41	5	1705	5	ZNF74	22	20761010	Nonsense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2782547	20761010	30543556	1236	11244											
RTDR1	27156	broad.mit.edu	37	chr22	23404006	23404006	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttcagtgatcactgtggcGaacatcagggcaccggcagc	12	13	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:23404006G>A	uc002zwt.2	-	6	929	c.771C>T	c.(769-771)TTC>TTT	p.F257F		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region protein 1	257							binding			ovary(1)	1	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TCACTGTGGCGAACATCAGGG	0.582													A	23404006	G	A	23404006	2	1	12	1	0	0	0	0	0	0	0	1	13719	1049	37	1		1	RTDR1	22	23404006	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	2642996	23404006	27900560	1237	11245											
CYTSA	23384	broad.mit.edu	37	chr22	24717611	24717611	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attaatgaggatcattctgaGggtgatgaaaaatctgagaa	11	3	3	5			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:24717611G>T	uc002zzw.2	+	5	970	c.663G>T	c.(661-663)GAG>GAT	p.E221D	CYTSA_uc002zzv.3_Missense_Mutation_p.E221D|CYTSA_uc011ajq.1_Missense_Mutation_p.E221D	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	221	Potential.				cell cycle|cell division						0						ATCATTCTGAGGGTGATGAAA	0.448													T	24717611	G	T	24717611	3	4	12	1	0	0	0	0	1	0	0	0	4209	991	35	5	673	5	CYTSA	22	24717611	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1313605	24717611	26586955	1238	11246											
SGSM1	129049	broad.mit.edu	37	chr22	25294421	25294421	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagtgaggacaacctctcGgaggagcctgagatggaaag	15	8	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:25294421G>A	uc003abg.2	+	20	2827	c.2670G>A	c.(2668-2670)TCG>TCA	p.S890S	SGSM1_uc003abh.2_Silent_p.S829S|SGSM1_uc010guu.1_Silent_p.S835S|SGSM1_uc003abj.2_Silent_p.S774S|SGSM1_uc003abi.1_Silent_p.S810S	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	890	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						ACAACCTCTCGGAGGAGCCTG	0.587													A	25294421	G	A	25294421	2	1	12	1	0	0	0	0	0	0	0	1	14222	1103	39	1		1	SGSM1	22	25294421	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	576810	25294421	26010145	1239	11247											
ADRBK2	157	broad.mit.edu	37	chr22	26086188	26086188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttggatgaacatggacaCgcaagaatatcagatcttgg	10	8	3	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:26086188C>T	uc003abx.3	+	12	1137	c.990C>T	c.(988-990)CAC>CAT	p.H330H	ADRBK2_uc010gux.2_Silent_p.H330H|ADRBK2_uc003abw.2_Silent_p.H217H|ADRBK2_uc003aby.3_RNA	NM_005160	NP_005151	P35626	ARBK2_HUMAN	beta-adrenergic receptor kinase 2	330	Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7					Adenosine triphosphate(DB00171)	AACATGGACACGCAAGAATAT	0.418													T	26086188	C	T	26086188	2	4	12	1	0	0	0	0	0	0	0	1	344	535	19	1		1	ADRBK2	22	26086188	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	791767	26086188	25218378	1240	11248											
TFIP11	24144	broad.mit.edu	37	chr22	26895229	26895229	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtgagggggttgctgcaGtcgggctgcatccgccgctc	18	11	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:26895229G>A	uc003acr.2	-	8	1544	c.1170C>T	c.(1168-1170)GAC>GAT	p.D390D	TFIP11_uc003acs.2_Silent_p.D390D|TFIP11_uc003act.2_Silent_p.D390D	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	390					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						GGTTGCTGCAGTCGGGCTGCA	0.607													A	26895229	G	A	26895229	2	1	12	1	0	0	0	0	0	0	0	1	15804	1020	36	4		4	TFIP11	22	26895229	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	809041	26895229	24409337	1241	11249											
CHEK2	11200	broad.mit.edu	37	chr22	29120963	29120963	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccataagataataatattAcctttatttctgcttagtga	4	6	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:29120963A>G	uc003adu.1	-	4	664	c.592_splice	c.e4+1	p.V198_splice	CHEK2_uc003ads.1_Intron|CHEK2_uc010gvh.1_Intron|CHEK2_uc010gvi.1_Splice_Site_p.V198_splice|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Splice_Site|CHEK2_uc010gvk.1_Splice_Site|CHEK2_uc003adt.1_Splice_Site_p.V241_splice|CHEK2_uc003adv.1_Splice_Site_p.V198_splice|CHEK2_uc003adw.1_Splice_Site_p.V198_splice|CHEK2_uc003adx.1_Splice_Site|CHEK2_uc003ady.1_Splice_Site_p.V198_splice|CHEK2_uc003adz.1_Intron	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a						cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						TAATAATATTACCTTTATTTC	0.343			F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer				G	29120963	A	G	29120963	5	3	12	1	0	0	0	0	0	0	1	0	3335	405	14	3	1085	3	CHEK2	22	29120963	Splice_Site	SNP	A	TCGA-BR-4257-01A-01D-1126-08	2225734	29120963	22183603	1242	11250											
EWSR1	2130	broad.mit.edu	37	chr22	29695771	29695771	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacgaggtggccctggggggCcccctggacctttgatggaa	17	11	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:29695771C>G	uc003aet.2	+	16	2189	c.1861C>G	c.(1861-1863)CCC>GCC	p.P621A	EWSR1_uc003aev.2_Missense_Mutation_p.P626A|EWSR1_uc003aew.2_Missense_Mutation_p.P565A|EWSR1_uc003aex.2_Missense_Mutation_p.P620A|EWSR1_uc003aey.2_Missense_Mutation_p.P416A|EWSR1_uc003aez.2_Missense_Mutation_p.P282A	NM_005243	NP_005234	Q01844	EWS_HUMAN	Ewing sarcoma breakpoint region 1 isoform 2	621	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254						CCCTGGGGGGCCCCCTGGACC	0.607			T	FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1	Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma								G	29695771	C	G	29695771	3	3	12	1	0	0	0	0	1	0	0	0	5296	739	26	5	2040	5	EWSR1	22	29695771	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	574808	29695771	21608795	1243	11251											
RNF215	200312	broad.mit.edu	37	chr22	30780336	30780336	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctagcacccacctgctcctGggcacgactgcctccaaggc	10	18	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:30780336G>T	uc003ahp.2	-	5	736	c.736C>A	c.(736-738)CAG>AAG	p.Q246K	RNF215_uc011akw.1_Missense_Mutation_p.Q151K	NM_001017981	NP_001017981	Q9Y6U7	RN215_HUMAN	ring finger protein 215	246	Extracellular (Potential).					integral to membrane	zinc ion binding			central_nervous_system(1)	1						ACCTGCTCCTGGGCACGACTG	0.557													T	30780336	G	T	30780336	3	4	12	1	0	0	0	0	1	0	0	0	13479	1357	47	5	417	5	RNF215	22	30780336	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1084565	30780336	20524230	1244	11252											
DEPDC5	9681	broad.mit.edu	37	chr22	32239152	32239152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcagaacgttccacaaaGtgacgctgaaggataagatg	13	7	0	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:32239152G>A	uc003als.2	+	28	2702	c.2560G>A	c.(2560-2562)GTG>ATG	p.V854M	DEPDC5_uc011als.1_Missense_Mutation_p.V785M|DEPDC5_uc011alu.1_Missense_Mutation_p.V863M|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.V854M|DEPDC5_uc003alu.2_Missense_Mutation_p.V303M|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.V184M|DEPDC5_uc003alw.2_Missense_Mutation_p.V152M|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_5'Flank	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	854					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						GTTCCACAAAGTGACGCTGAA	0.443													A	32239152	G	A	32239152	3	1	12	1	0	0	0	0	1	0	0	0	4442	1029	36	4	2684	4	DEPDC5	22	32239152	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1458816	32239152	19065414	1245	11253											
SYN3	8224	broad.mit.edu	37	chr22	33327401	33327401	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actttggtcccatttctcacGacctgcatgtccaccatgca	6	15	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:33327401G>A	uc003amx.2	-	3	594	c.435C>T	c.(433-435)GTC>GTT	p.V145V	SYN3_uc003amy.2_Silent_p.V145V|SYN3_uc003amz.2_Silent_p.V145V	NM_003490	NP_003481	O14994	SYN3_HUMAN	synapsin III isoform IIIa	145	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			skin(1)	1						CATTTCTCACGACCTGCATGT	0.473													A	33327401	G	A	33327401	2	1	12	1	0	0	0	0	0	0	0	1	15439	1045	37	1		1	SYN3	22	33327401	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1088249	33327401	17977165	1246	11254											
CARD10	29775	broad.mit.edu	37	chr22	37914112	37914112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcaagatgtccatcaggCgccctacagagtagtggggg	15	10	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:37914112C>T	uc003asx.1	-	2	242	c.239G>A	c.(238-240)CGC>CAC	p.R80H	CARD10_uc003ast.1_RNA|CARD10_uc003asy.1_Missense_Mutation_p.R80H	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	caspase recruitment domain protein 10	80	CARD.				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6	Melanoma(58;0.0574)					GTCCATCAGGCGCCCTACAGA	0.637													T	37914112	C	T	37914112	3	4	12	1	0	0	0	0	1	0	0	0	2644	768	27	1	2935	1	CARD10	22	37914112	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	4586711	37914112	13390454	1247	11255											
SUN2	25777	broad.mit.edu	37	chr22	39141791	39141791	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggtggaatgtctgcagCccataggggtagaaatacca	14	8	1	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:39141791C>T	uc003awh.1	-	9	995	c.711G>A	c.(709-711)GGG>GGA	p.G237G	SUN2_uc011anz.1_Silent_p.G272G|SUN2_uc011aoa.1_Silent_p.G226G|SUN2_uc003awi.1_Silent_p.G237G|SUN2_uc010gxq.1_Silent_p.G258G|SUN2_uc010gxr.1_Silent_p.G237G|SUN2_uc010gxs.1_Silent_p.G237G	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	unc-84 homolog B	237	Perinuclear space.				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			large_intestine(1)|skin(1)	2						ATGTCTGCAGCCCATAGGGGT	0.617													T	39141791	C	T	39141791	2	4	12	1	0	0	0	0	0	0	0	1	15389	726	26	2		2	SUN2	22	39141791	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1227679	39141791	12162775	1248	11256											
CBX6	23466	broad.mit.edu	37	chr22	39262866	39262866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactttggggcgggccagcGccccggccccctgcccggcg	17	18	0	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:39262866G>A	uc003awl.2	-	5	650	c.587C>T	c.(586-588)GCG>GTG	p.A196V		NM_014292	NP_055107	O95503	CBX6_HUMAN	chromobox homolog 6	196					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex					0	Melanoma(58;0.04)					gcgggccagcgccccggcccc	0.448													A	39262866	G	A	39262866	3	1	12	1	0	0	0	0	1	0	0	0	2722	1087	38	1	655	1	CBX6	22	39262866	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	121075	39262866	12041700	1249	11257											
SLC25A17	10478	broad.mit.edu	37	chr22	41173356	41173356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccgagattccttcatcgCgaatgatctgatgaaaagca	9	9	2	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:41173356C>T	uc003azc.2	-	6	613	c.473G>A	c.(472-474)CGC>CAC	p.R158H	SLC25A17_uc010gyg.2_RNA|SLC25A17_uc011aou.1_Missense_Mutation_p.R121H|SLC25A17_uc003azd.2_RNA|SLC25A17_uc011aov.1_Missense_Mutation_p.R85H	NM_006358	NP_006349	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier;	158	Lumenal (Potential).|Solcar 2.				fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding				0						TCCTTCATCGCGAATGATCTG	0.403													T	41173356	C	T	41173356	3	4	12	1	0	0	0	0	1	0	0	0	14479	768	27	1	466	1	SLC25A17	22	41173356	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	1910490	41173356	10131210	1250	11258											
XRCC6	2547	broad.mit.edu	37	chr22	42032527	42032527	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcctctgatcaggtgcaaaAcgaattctagagcttgacca	9	10	3	3			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:42032527A>G	uc003bao.1	+	5	412	c.342A>G	c.(340-342)AAA>AAG	p.K114K	XRCC6_uc003bap.1_Silent_p.K73K|XRCC6_uc011apc.1_Silent_p.K64K|XRCC6_uc003baq.1_Silent_p.K114K|XRCC6_uc003bar.1_Silent_p.K114K|XRCC6_uc003bas.1_Silent_p.K64K	NM_001469	NP_001460	P12956	XRCC6_HUMAN	ATP-dependent DNA helicase II, 70 kDa subunit	114					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			skin(2)|ovary(1)|lung(1)|kidney(1)	5						CAGGTGCAAAACGAATTCTAG	0.463								Direct_reversal_of_damage|NHEJ					G	42032527	A	G	42032527	2	3	12	1	0	0	0	0	0	0	0	1	17454	40	2	3		3	XRCC6	22	42032527	Silent	SNP	A	TCGA-BR-4257-01A-01D-1126-08	859171	42032527	9272039	1251	11259											
MEI1	150365	broad.mit.edu	37	chr22	42125712	42125712	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaggtggccagtgctcActgtataactgcggtgcttg	13	11	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:42125712A>G	uc003baz.1	+	8	933	c.908A>G	c.(907-909)CAC>CGC	p.H303R	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc003bay.3_Missense_Mutation_p.H303R|MEI1_uc011apd.1_RNA	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	303							binding			central_nervous_system(1)|skin(1)	2						GCCAGTGCTCACTGTATAACT	0.527													G	42125712	A	G	42125712	3	3	12	1	0	0	0	0	1	0	0	0	9465	159	6	3	938	3	MEI1	22	42125712	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	93185	42125712	9178854	1252	11260											
MEI1	150365	broad.mit.edu	37	chr22	42191805	42191805	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggcctccttggagggcCttccccctagcacctcctca	9	18	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:42191805C>A	uc003baz.1	+	30	3758	c.3733C>A	c.(3733-3735)CTT>ATT	p.L1245I	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.L631I|MEI1_uc003bbc.1_Missense_Mutation_p.L613I|MEI1_uc010gym.1_Missense_Mutation_p.L578I|MEI1_uc003bbd.1_Missense_Mutation_p.L458I|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA|MEI1_uc003bbf.2_Missense_Mutation_p.L259I|MEI1_uc003bbg.2_Missense_Mutation_p.L215I	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	1245							binding			central_nervous_system(1)|skin(1)	2						CTTGGAGGGCCTTCCCCCTAG	0.602													A	42191805	C	A	42191805	3	1	12	1	0	0	0	0	1	0	0	0	9465	681	24	5	3851	5	MEI1	22	42191805	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	66093	42191805	9112761	1253	11261											
SCUBE1	80274	broad.mit.edu	37	chr22	43616498	43616498	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgatctcaaactctgctgTgatgtgggacacctccttgg	10	12	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:43616498T>C	uc003bdt.1	-	14	1733	c.1645A>G	c.(1645-1647)ACA>GCA	p.T549A		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	549					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				AACTCTGCTGTGATGTGGGAC	0.582													C	43616498	T	C	43616498	3	2	12	1	0	0	0	0	1	0	0	0	13944	1696	59	3	1357	3	SCUBE1	22	43616498	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	1424693	43616498	7688068	1254	11262											
GRAMD4	23151	broad.mit.edu	37	chr22	47073062	47073062	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccgctcgtgtttggtgccAtggtgcacagggatgaggcc	16	10	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:47073062A>G	uc003bhx.2	+	18	1690	c.1651A>G	c.(1651-1653)ATG>GTG	p.M551V	GRAMD4_uc010had.2_Missense_Mutation_p.M467V|GRAMD4_uc003bhy.2_Missense_Mutation_p.M74V	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	551					apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GTTTGGTGCCATGGTGCACAG	0.597													G	47073062	A	G	47073062	3	3	12	1	0	0	0	0	1	0	0	0	6752	217	8	3	1721	3	GRAMD4	22	47073062	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	3456564	47073062	4231504	1255	11263											
TUBGCP6	85378	broad.mit.edu	37	chr22	50667976	50667976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacgctcctgacacgtggaCgccccgcttcaccacaaagg	10	16	1	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:50667976C>T	uc003bkb.1	-	4	1659	c.1147G>A	c.(1147-1149)GTC>ATC	p.V383I	TUBGCP6_uc010har.1_Missense_Mutation_p.V383I|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	383					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GACACGTGGACGCCCCGCTTC	0.642													T	50667976	C	T	50667976	3	4	12	1	0	0	0	0	1	0	0	0	16767	536	19	1	4400	1	TUBGCP6	22	50667976	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3594914	50667976	636590	1256	11264											
SBF1	6305	broad.mit.edu	37	chr22	50894806	50894807	+	Frame_Shift_Ins	INS	-	-	G													accagctcccactgctgcagINSggggtctgaccgcacaccct							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:50894805_50894806A>AG	uc003blh.3	-	30	4300_4301	c.4105_4106T>CT	c.(4105-4107)ctgfs	p.L1369fs	SBF1_uc003ble.3_5'Flank|SBF1_uc011arx.2_Frame_Shift_Ins_p.L1007fs	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1343	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCACTGCTGCAGGGGGTCTGAC	0.639													G	50894807	-	G	50894806	7	5	12	1	0	1	1	0	0	0	0	0	13858	991	35	0	1620	0	SBF1	22	50894806	Frame_Shift_Ins	INS	-	TCGA-BR-4257-01A-01D-1126-08	226830	50894806	409760	1257	11265											
PPP2R3B	28227	broad.mit.edu	37	chrX	299553	299553	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgctcgtggtcgaggTacttctcgatgttgaagaag	12	8	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:299553T>C	uc004cpg.2	-	11	1631	c.1430A>G	c.(1429-1431)TAC>TGC	p.Y477C	PPP2R3B_uc004cpf.2_Missense_Mutation_p.Y78C	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	477					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTGGTCGAGGTACTTCTCGAT	0.498													C	299553	T	C	299553	3	2	12	1	0	0	0	0	1	0	0	0	12389	1638	57	3	309	3	PPP2R3B	23	299553	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08		299553	154971007	1258	11266											
NLGN4X	57502	broad.mit.edu	37	chrX	5821797	5821797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgtccgtggtgtccagcaTgttgcagccgaccttgtctg	12	12	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:5821797T>C	uc010ndh.2	-	5	1423	c.922A>G	c.(922-924)ATG>GTG	p.M308V	NLGN4X_uc004crp.2_Missense_Mutation_p.M328V|NLGN4X_uc004crq.2_Missense_Mutation_p.M308V|NLGN4X_uc010ndi.2_Missense_Mutation_p.M345V|NLGN4X_uc004crr.2_Missense_Mutation_p.M308V|NLGN4X_uc010ndj.2_Missense_Mutation_p.M308V	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	308	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						GTGTCCAGCATGTTGCAGCCG	0.582													C	5821797	T	C	5821797	3	2	12	1	0	0	0	0	1	0	0	0	10464	1464	51	3	1536	3	NLGN4X	23	5821797	Missense_Mutation	SNP	T	TCGA-BR-4257-01A-01D-1126-08	5522244	5821797	149448763	1259	11267											
GPR143	4935	broad.mit.edu	37	chrX	9716622	9716622	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcccaacttacctggacacGgaagggtagtagagcatggc	13	10	0	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:9716622G>T	uc004cst.1	-	4	600	c.600C>A	c.(598-600)TCC>TCA	p.S200S		NM_000273	NP_000264	P51810	GP143_HUMAN	G protein-coupled receptor 143	180	Extracellular (Potential).				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			ovary(1)	1		Hepatocellular(5;0.000888)				ACCTGGACACGGAAGGGTAGT	0.597													T	9716622	G	T	9716622	2	4	12	1	0	0	0	0	0	0	0	1	6651	1103	39	5		5	GPR143	23	9716622	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	3894825	9716622	145553938	1260	11268											
GEMIN8	54960	broad.mit.edu	37	chrX	14027111	14027111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagctcagctgcaccgcgGcctccatggcttggatcttg	11	14	2	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:14027111G>A	uc004cwb.2	-	5	993	c.650C>T	c.(649-651)GCC>GTC	p.A217V	GEMIN8_uc004cwc.2_Missense_Mutation_p.A217V|GEMIN8_uc004cwd.2_Missense_Mutation_p.A217V	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	217					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding				0						CTGCACCGCGGCCTCCATGGC	0.617													A	14027111	G	A	14027111	3	1	12	1	0	0	0	0	1	0	0	0	6334	1203	42	2	82	2	GEMIN8	23	14027111	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	4310489	14027111	141243449	1261	11269											
CDKL5	6792	broad.mit.edu	37	chrX	18622050	18622050	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcaaaagtactgctttgCagtctcaccacagatctaac	7	13	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:18622050C>T	uc004cym.2	+	12	1259	c.1006C>T	c.(1006-1008)CAG>TAG	p.Q336*	CDKL5_uc004cyn.2_Nonsense_Mutation_p.Q336*	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	336					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					TACTGCTTTGCAGTCTCACCA	0.438													T	18622050	C	T	18622050	4	4	12	1	0	0	0	0	0	1	0	0	3157	711	25	2	1048	2	CDKL5	23	18622050	Nonsense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	4594939	18622050	136648510	1262	11270											
MAOB	4129	broad.mit.edu	37	chrX	43741511	43741511	+	Frame_Shift_Del	DEL	C	C	-													gcgactaacctgagatgccgCcccccaccacgaccacgtcg							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:43741511delC	uc004dfz.3	-	1	211	c.35delG	c.(34-36)GGCfs	p.G12fs	MAOB_uc011mky.1_5'UTR|MAOB_uc010nhj.2_Frame_Shift_Del_p.G12fs	NM_000898	NP_000889	P27338	AOFB_HUMAN	monoamine oxidase B	12	Cytoplasmic.				xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			ovary(1)|central_nervous_system(1)	2					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TGAGATGCCGCCCCCCACCAC	0.697													-	43741511	C	-	43741511	7	5	12	1	0	1	0	1	0	0	0	0	9226	739	26	0	1587	0	MAOB	23	43741511	Frame_Shift_Del	DEL	C	TCGA-BR-4257-01A-01D-1126-08	25119461	43741511	111529049	1263	11271											
KDM6A	7403	broad.mit.edu	37	chrX	44941988	44941988	+	Frame_Shift_Del	DEL	A	A	-													ggaggaggaaaggaccctttAaaaccataaagtttgggacc							TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:44941987_44941987TA>T	uc011mkz.2	+	22	3768	c.3393_3393TA>T	c.(3391-3393)tttfs	p.F1131fs	KDM6A_uc004dge.4_Frame_Shift_Del_p.F1079fs|KDM6A_uc011mla.2_Frame_Shift_Del_p.F1034fs|KDM6A_uc011mlb.2_Frame_Shift_Del_p.F1086fs|KDM6A_uc011mlc.2_Frame_Shift_Del_p.F783fs|KDM6A_uc022bvj.1_Frame_Shift_Del_p.F1000fs|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Frame_Shift_Del_p.F718fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	1079	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AAGGACCCTTTAAAACCATAA	0.343			"D, N, F, S"		"renal, oesophageal SCC, MM"								-	44941988	A	-	44941988	7	5	12	1	0	1	0	1	0	0	0	0	8137	363	13	0	3324	0	KDM6A	23	44941988	Frame_Shift_Del	DEL	A	TCGA-BR-4257-01A-01D-1126-08	1200477	44941988	110328572	1264	11272											
SUV39H1	6839	broad.mit.edu	37	chrX	48558962	48558962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggtgcggcttcgagccGggctgcccatctacgagtgc	15	14	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:48558962G>A	uc004dkn.2	+	3	691	c.646G>A	c.(646-648)GGG>AGG	p.G216R	SUV39H1_uc011mmf.1_Missense_Mutation_p.G227R|SUV39H1_uc011mmg.1_RNA	NM_003173	NP_003164	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1	216	Pre-SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding				0						GCTTCGAGCCGGGCTGCCCAT	0.622													A	48558962	G	A	48558962	3	1	12	1	0	0	0	0	1	0	0	0	15409	1116	39	1	656	1	SUV39H1	23	48558962	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	3616974	48558962	106711598	1265	11273											
MED12	9968	broad.mit.edu	37	chrX	70348474	70348474	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctatcttttcatgactcGctggctacttttgttgccat	7	11	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:70348474G>A	uc004dyy.2	+	24	3580	c.3381G>A	c.(3379-3381)TCG>TCA	p.S1127S	MED12_uc011mpq.1_Silent_p.S1127S|MED12_uc004dyz.2_Silent_p.S1127S|MED12_uc004dza.2_Silent_p.S974S|MED12_uc010nla.2_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1127					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					TTCATGACTCGCTGGCTACTT	0.522											OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	70348474	G	A	70348474	2	1	12	1	0	0	0	0	0	0	0	1	9428	1074	38	1		1	MED12	23	70348474	Silent	SNP	G	TCGA-BR-4257-01A-01D-1126-08	21789512	70348474	84922086	1266	11274											
MED12	9968	broad.mit.edu	37	chrX	70353001	70353001	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taattggcgagatgaccagtActtagatgattgcaaaccaa	9	7	0	4			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:70353001A>G	uc004dyy.2	+	33	4755	c.4556A>G	c.(4555-4557)TAC>TGC	p.Y1519C	MED12_uc011mpq.1_Missense_Mutation_p.Y1519C|MED12_uc004dyz.2_Missense_Mutation_p.Y1519C|MED12_uc004dza.2_Missense_Mutation_p.Y1366C|MED12_uc010nla.2_Missense_Mutation_p.Y145C	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1519					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					GATGACCAGTACTTAGATGAT	0.453													G	70353001	A	G	70353001	3	3	12	1	0	0	0	0	1	0	0	0	9428	391	14	3	4686	3	MED12	23	70353001	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	4527	70353001	84917559	1267	11275											
GRIA3	2892	broad.mit.edu	37	chrX	122616765	122616765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctgttacaaatcacgggCagagtccaaacgcatgaaac	8	10	2	2			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:122616765C>T	uc004etq.3	+	16	2848	c.2555C>T	c.(2554-2556)GCA>GTA	p.A852V	GRIA3_uc004etr.3_Missense_Mutation_p.A852V|GRIA3_uc004ets.3_RNA	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	852	Cytoplasmic (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)	AAATCACGGGCAGAGTCCAAA	0.473													T	122616765	C	T	122616765	3	4	12	1	0	0	0	0	1	0	0	0	6769	710	25	2	2732	2	GRIA3	23	122616765	Missense_Mutation	SNP	C	TCGA-BR-4257-01A-01D-1126-08	52263764	122616765	32653795	1268	11276											
ACTRT1	139741	broad.mit.edu	37	chrX	127185298	127185298	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccggagagtacaatgtcTgcataaagtttattctggat	9	9	2	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:127185298T>C	uc004eum.2	-	1	1085	c.888A>G	c.(886-888)GCA>GCG	p.A296A		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	296						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)|skin(1)	5						GTACAATGTCTGCATAAAGTT	0.522													C	127185298	T	C	127185298	2	2	12	1	0	0	0	0	0	0	0	1	218	1567	55	3		3	ACTRT1	23	127185298	Silent	SNP	T	TCGA-BR-4257-01A-01D-1126-08	4568533	127185298	28085262	1269	11277											
F9	2158	broad.mit.edu	37	chrX	138644004	138644004	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacatgtcttcgatctacaaAgttcaccatctataacaaca	3	12	4	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:138644004A>G	uc004fas.1	+	8	1189	c.1160A>G	c.(1159-1161)AAG>AGG	p.K387R	F9_uc004fat.1_Missense_Mutation_p.K349R	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein	387	Peptidase S1.		K -> E (in HEMB; mild).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	CGATCTACAAAGTTCACCATC	0.463													G	138644004	A	G	138644004	3	3	12	1	0	0	0	0	1	0	0	0	5351	72	3	3	1190	3	F9	23	138644004	Missense_Mutation	SNP	A	TCGA-BR-4257-01A-01D-1126-08	11458706	138644004	16626556	1270	11278											
CD99L2	83692	broad.mit.edu	37	chrX	149983362	149983362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctatacccggtttcctgcGgccatcatcttgatcatcca	6	15	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:149983362G>A	uc004fel.2	-	4	368	c.250C>T	c.(250-252)CGC>TGC	p.R84C	CD99L2_uc004fek.2_RNA|CD99L2_uc004fem.2_Intron|CD99L2_uc004fen.2_Intron|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_Missense_Mutation_p.R84C	NM_031462	NP_113650	Q8TCZ2	C99L2_HUMAN	CD99 antigen-like 2 isoform E3'-E4'-E3-E4	84	Extracellular (Potential).				cell adhesion	cell junction|integral to membrane				large_intestine(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTTCCTGCGGCCATCATCT	0.453													A	149983362	G	A	149983362	3	1	12	1	0	0	0	0	1	0	0	0	3051	1116	39	1	570	1	CD99L2	23	149983362	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	11339358	149983362	5287198	1271	11279											
PLXNB3	5365	broad.mit.edu	37	chrX	153040420	153040420	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccgcacctacgccgagcgCgccttcttccctggccatgg	10	18	1	0			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:153040420C>T	uc004fii.2	+	24	4191	c.4017C>T	c.(4015-4017)CGC>CGT	p.R1339R	PLXNB3_uc010nuk.2_Silent_p.R1362R|PLXNB3_uc011mzd.1_Silent_p.R978R|PLXNB3_uc004fij.1_RNA|SRPK3_uc004fik.2_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1339	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACGCCGAGCGCGCCTTCTTCC	0.701													T	153040420	C	T	153040420	2	4	12	1	0	0	0	0	0	0	0	1	12125	755	27	1		1	PLXNB3	23	153040420	Silent	SNP	C	TCGA-BR-4257-01A-01D-1126-08	3057058	153040420	2230140	1272	11280											
SPRY3	10251	broad.mit.edu	37	chrX	155003589	155003589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcctattgaacagctgcGctctactcatgctagcaatg	8	12	3	1			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:155003589G>A	uc004fnq.1	+	2	510	c.56G>A	c.(55-57)CGC>CAC	p.R19H	SPRY3_uc010nvl.1_Missense_Mutation_p.R19H	NM_005840	NP_005831	O43610	SPY3_HUMAN	sprouty homolog 3	19					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane					0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAACAGCTGCGCTCTACTCAT	0.488													A	155003589	G	A	155003589	3	1	12	1	0	0	0	0	1	0	0	0	15106	1087	38	1	58	1	SPRY3	23	155003589	Missense_Mutation	SNP	G	TCGA-BR-4257-01A-01D-1126-08	1963169	155003589	266971	1273	11281											
MTOR	2475	broad.mit.edu	37	chr1	11204807	11204807	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacagcatgtggcaagaaacCatggcctgatggaagcaaat	12	8	0	2			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:11204807C>G	uc001asd.2	-	34	4891	c.4770G>C	c.(4768-4770)ATG>ATC	p.M1590I		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	1590	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						GGCAAGAAACCATGGCCTGAT	0.478													G	11204807	C	G	11204807	3	3	13	1	0	0	0	0	1	0	0	0	9954	594	21	5	2979	5	MTOR	1	11204807	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08		11204807	238045814	1	11282											
CLIC4	25932	broad.mit.edu	37	chr1	25153587	25153587	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctctgcatatatcaagaattCaaggccagaggctaatgaag	9	8	3	3			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:25153587C>G	uc001bjo.2	+	4	680	c.395C>G	c.(394-396)TCA>TGA	p.S132*	CLIC4_uc001bjn.2_RNA|CLIC4_uc001bjp.1_Nonsense_Mutation_p.S112*	NM_013943	NP_039234	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	132	GST C-terminal.				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		ATCAAGAATTCAAGGCCAGAG	0.338													G	25153587	C	G	25153587	4	3	13	1	0	0	0	0	0	1	0	0	3528	838	29	5	409	5	CLIC4	1	25153587	Nonsense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08	13948780	25153587	224097034	2	11283											
ZMYM6	9204	broad.mit.edu	37	chr1	35452793	35452793	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccagaacccaacagatttTtttgttttgactcagtcaaa	7	9	2	3			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:35452793T>C	uc001byh.2	-	16	4118	c.3890A>G	c.(3889-3891)AAA>AGA	p.K1297R	uc001byd.3_5'Flank|uc001bye.2_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc010oht.1_Missense_Mutation_p.K1200R	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	1297					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				CAACAGATTTTTTTGTTTTGA	0.373													C	35452793	T	C	35452793	3	2	13	1	0	0	0	0	1	0	0	0	17701	1841	64	3	91	3	ZMYM6	1	35452793	Missense_Mutation	SNP	T	TCGA-BR-4267-01A-01D-1126-08	10299206	35452793	213797828	3	11284											
GJA9	81025	broad.mit.edu	37	chr1	39341225	39341225	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacttaaatagcggctctaaGtgaaatccatataaaaggta	7	7	1	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:39341225G>C	uc001cct.1	-	2	827	c.546C>G	c.(544-546)CAC>CAG	p.H182Q	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	NM_030772	NP_110399	P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	182	Helical; (Potential).				cell communication	connexon complex|integral to membrane					0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GCGGCTCTAAGTGAAATCCAT	0.393													C	39341225	G	C	39341225	3	2	13	1	0	0	0	0	1	0	0	0	6406	1020	36	5	1005	5	GJA9	1	39341225	Missense_Mutation	SNP	G	TCGA-BR-4267-01A-01D-1126-08	3888432	39341225	209909396	4	11285											
TNNI3K	51086	broad.mit.edu	37	chr1	74664041	74664041	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcggaggttttccgagctaAgaggtaccagagaaggcacc	14	9	0	2			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:74664041A>C	uc001dge.1	+	1	95	c.79A>C	c.(79-81)AGA>CGA	p.R27R	LRRIQ3_uc001dfy.3_5'Flank|LRRIQ3_uc001dfz.3_5'Flank|TNNI3K_uc001dgc.1_Silent_p.R27R|TNNI3K_uc001dgd.2_Silent_p.R27R|FPGT_uc010oqt.1_5'UTR|FPGT_uc010oqu.1_Silent_p.R27R|FPGT_uc001dgb.1_Silent_p.R27R|FPGT_uc010oqv.1_Silent_p.R27R	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform a	Error:Variant_position_missing_in_Q59H18_after_alignment						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						TTCCGAGCTAAGAGGTACCAG	0.577													C	74664041	A	C	74664041	2	2	13	1	0	0	0	0	0	0	0	1	16326	64	3	5		5	TNNI3K	1	74664041	Silent	SNP	A	TCGA-BR-4267-01A-01D-1126-08	35322816	74664041	174586580	5	11286											
ZNHIT6	54680	broad.mit.edu	37	chr1	86123656	86123656	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggatctagttcataatatcTtattaataaaaaaaaacaaa	3	4	3	0			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:86123656T>G	uc001dlh.2	-	9	1382	c.1248_splice	c.e9-1	p.R416_splice	ZNHIT6_uc010osc.1_Splice_Site_p.R377_splice	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	zinc finger, HIT type 6						box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			large_intestine(1)	1						TCATAATATCTTATTAATAAA	0.244													G	86123656	T	G	86123656	5	3	13	1	0	0	0	0	0	0	1	0	18206	1623	56	5	174	5	ZNHIT6	1	86123656	Splice_Site	SNP	T	TCGA-BR-4267-01A-01D-1126-08	11459615	86123656	163126965	6	11287											
CA14	23632	broad.mit.edu	37	chr1	150234696	150234696	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagtgaagccacatttgcAgaggtaccagggaacaaaga	11	8	0	3			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:150234696A>C	uc001etx.2	+	4	705	c.396A>C	c.(394-396)GCA>GCC	p.A132A		NM_012113	NP_036245	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV precursor	132	Extracellular (Potential).					integral to membrane	carbonate dehydratase activity|metal ion binding			ovary(1)	1	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACATTTGCAGAGGTACCAG	0.542													C	150234696	A	C	150234696	2	2	13	1	0	0	0	0	0	0	0	1	2515	175	7	5		5	CA14	1	150234696	Silent	SNP	A	TCGA-BR-4267-01A-01D-1126-08	64111040	150234696	99015925	7	11288											
CLK2	1196	broad.mit.edu	37	chr1	155235680	155235680	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gttgtaggtgagctcatagtCtgaattcacaaacagaatat	9	6	3	3			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:155235680C>G	uc001fjy.2	-	8	1194	c.904G>C	c.(904-906)GAC>CAC	p.D302H	RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Missense_Mutation_p.D301H|CLK2_uc001fjx.2_Missense_Mutation_p.D74H|CLK2_uc009wqm.2_Missense_Mutation_p.D302H	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	302	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGCTCATAGTCTGAATTCACA	0.517								Other_conserved_DNA_damage_response_genes					G	155235680	C	G	155235680	3	3	13	1	0	0	0	0	1	0	0	0	3537	913	32	5	619	5	CLK2	1	155235680	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08	5000984	155235680	94014941	8	11289											
KIRREL	55243	broad.mit.edu	37	chr1	158064804	158064804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcggaccccatatgaggCgtatgaccccattggcaagt	13	11	0	2			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:158064804C>T	uc001frn.3	+	15	2572	c.2168C>T	c.(2167-2169)GCG>GTG	p.A723V	KIRREL_uc010pib.1_Missense_Mutation_p.A623V|KIRREL_uc009wsq.2_Missense_Mutation_p.A559V|KIRREL_uc001fro.3_Missense_Mutation_p.A537V|uc001frp.2_5'Flank	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	723	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					CCATATGAGGCGTATGACCCC	0.632													T	158064804	C	T	158064804	3	4	13	1	0	0	0	0	1	0	0	0	8324	768	27	1	2226	1	KIRREL	1	158064804	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08	2829124	158064804	91185817	9	11290											
CD1C	911	broad.mit.edu	37	chr1	158261887	158261887	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccagatccctttgaagtAcaggtgaaagcgggctgtga	12	10	0	4			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:158261887A>G	uc001fru.2	+	3	634	c.342A>G	c.(340-342)GTA>GTG	p.V114V	CD1C_uc001frv.2_5'UTR	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	114	Extracellular (Potential).				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					CCTTTGAAGTACAGGTGAAAG	0.418													G	158261887	A	G	158261887	2	3	13	1	0	0	0	0	0	0	0	1	2976	378	14	3		3	CD1C	1	158261887	Silent	SNP	A	TCGA-BR-4267-01A-01D-1126-08	197083	158261887	90988734	10	11291											
DARC	2532	broad.mit.edu	37	chr1	159176045	159176045	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggtccaagctgttgctGttgtcaacatgtctggccca	12	10	2	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:159176045G>T	uc001fto.2	+	2	1056	c.816G>T	c.(814-816)CTG>CTT	p.L272L	DARC_uc001ftp.3_Silent_p.L274L	NM_002036	NP_002027	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform b	272	Extracellular (Potential).				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			ovary(1)|lung(1)	2	all_hematologic(112;0.0429)					AGCTGTTGCTGTTGTCAACAT	0.577													T	159176045	G	T	159176045	2	4	13	1	0	0	0	0	0	0	0	1	4240	1364	48	5		5	DARC	1	159176045	Silent	SNP	G	TCGA-BR-4267-01A-01D-1126-08	914158	159176045	90074576	11	11292											
RNPEP	6051	broad.mit.edu	37	chr1	201965357	201965357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaagaatttttggcaacaGgagagaagctttttggacct	11	5	0	3			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:201965357G>A	uc001gxd.2	+	4	849	c.820G>A	c.(820-822)GGA>AGA	p.G274R	RNPEP_uc001gxe.2_5'UTR|RNPEP_uc001gxf.2_Missense_Mutation_p.G143R	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase	274					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			upper_aerodigestive_tract(1)	1				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TTTGGCAACAGGAGAGAAGCT	0.488													A	201965357	G	A	201965357	3	1	13	1	0	0	0	0	1	0	0	0	13509	1001	35	4	834	4	RNPEP	1	201965357	Missense_Mutation	SNP	G	TCGA-BR-4267-01A-01D-1126-08	42789312	201965357	47285264	12	11293											
NLRP3	114548	broad.mit.edu	37	chr1	247587525	247587525	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactatctgttctatatccaCtgtcgagaggtgagccttgt	10	9	2	2			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:247587525C>T	uc001icr.2	+	5	918	c.780C>T	c.(778-780)CAC>CAT	p.H260H	NLRP3_uc001ics.2_Silent_p.H260H|NLRP3_uc001icu.2_Silent_p.H260H|NLRP3_uc001icw.2_Silent_p.H260H|NLRP3_uc001icv.2_Silent_p.H260H|NLRP3_uc010pyw.1_Silent_p.H258H|NLRP3_uc001ict.1_Silent_p.H258H	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	260	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCTATATCCACTGTCGAGAGG	0.547													T	247587525	C	T	247587525	2	4	13	1	0	0	0	0	0	0	0	1	10478	564	20	4		4	NLRP3	1	247587525	Silent	SNP	C	TCGA-BR-4267-01A-01D-1126-08	45622168	247587525	1663096	13	11294											
RRM2	6241	broad.mit.edu	37	chr2	10263605	10263605	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccccatcgagtaccatgAtatctggcagatgtataaga	8	10	1	3			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr2:10263605A>G	uc002rah.2	+	3	457	c.266A>G	c.(265-267)GAT>GGT	p.D89G		NM_001034	NP_001025	P31350	RIR2_HUMAN	ribonucleotide reductase M2 polypeptide isoform	89					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		GAGTACCATGATATCTGGCAG	0.582													G	10263605	A	G	10263605	3	3	13	1	0	0	0	0	1	0	0	0	13682	333	12	3	456	3	RRM2	2	10263605	Missense_Mutation	SNP	A	TCGA-BR-4267-01A-01D-1126-08		10263605	232935768	14	11295											
KCNG3	170850	broad.mit.edu	37	chr2	42671708	42671708	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgaaccaacctatgcagataGcttcaattatcctgtcaaga	6	10	2	3			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr2:42671708G>C	uc002rsn.2	-	2	1273	c.677C>G	c.(676-678)GCT>GGT	p.A226G	KCNG3_uc002rsm.2_Missense_Mutation_p.A215G	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G,	226	Helical; Name=Segment S2; (Potential).					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)	1						TATGCAGATAGCTTCAATTAT	0.358													C	42671708	G	C	42671708	3	2	13	1	0	0	0	0	1	0	0	0	8029	971	34	5	637	5	KCNG3	2	42671708	Missense_Mutation	SNP	G	TCGA-BR-4267-01A-01D-1126-08	32408103	42671708	200527665	15	11296											
NEB	4703	broad.mit.edu	37	chr2	152581987	152581987	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcactgagttgatcttgtaCttttttgattctgcgaagtt	8	7	3	3			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr2:152581987C>G	uc010fnx.2	-	6	573	c.382G>C	c.(382-384)GTA>CTA	p.V128L		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	128	Nebulin 2.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGATCTTGTACTTTTTTGATT	0.398													G	152581987	C	G	152581987	3	3	13	1	0	0	0	0	1	0	0	0	10302	565	20	5	26012	5	NEB	2	152581987	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08	109910279	152581987	90617386	16	11297											
ZDBF2	57683	broad.mit.edu	37	chr2	207175935	207175935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatcattagaaagtatatttCgaaatactctgtctttttac	4	6	3	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr2:207175935C>T	uc002vbp.2	+	5	6933	c.6683C>T	c.(6682-6684)TCG>TTG	p.S2228L		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2228							nucleic acid binding|zinc ion binding			ovary(3)	3						AAGTATATTTCGAAATACTCT	0.358													T	207175935	C	T	207175935	3	4	13	1	0	0	0	0	1	0	0	0	17596	893	31	1	6693	1	ZDBF2	2	207175935	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08	54593948	207175935	36023438	17	11298											
CPS1	1373	broad.mit.edu	37	chr2	211507237	211507237	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaatttgattggtgtgctGtctctagtatccgcacactg	11	8	1	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr2:211507237G>T	uc002vee.3	+	25	3121	c.2989G>T	c.(2989-2991)GTC>TTC	p.V997F	CPS1_uc010fur.2_Missense_Mutation_p.V1003F|CPS1_uc010fus.2_Missense_Mutation_p.V546F	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	997					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TTGGTGTGCTGTCTCTAGTAT	0.453													T	211507237	G	T	211507237	3	4	13	1	0	0	0	0	1	0	0	0	3823	1377	48	5	3109	5	CPS1	2	211507237	Missense_Mutation	SNP	G	TCGA-BR-4267-01A-01D-1126-08	4331302	211507237	31692136	18	11299											
GOLGA4	2803	broad.mit.edu	37	chr3	37368748	37368748	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aggcaaagcaacatgaagatCaaagtatgataggtcatctt	9	6	3	3			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr3:37368748C>G	uc003cgv.2	+	14	5675	c.5371C>G	c.(5371-5373)CAA>GAA	p.Q1791E	GOLGA4_uc010hgr.1_Missense_Mutation_p.Q1352E|GOLGA4_uc003cgw.2_Missense_Mutation_p.Q1813E|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.Q1672E	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	1791	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						ACATGAAGATCAAAGTATGAT	0.373													G	37368748	C	G	37368748	3	3	13	1	0	0	0	0	1	0	0	0	6555	827	29	5	5495	5	GOLGA4	3	37368748	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08		37368748	160653682	19	11300											
VPRBP	9730	broad.mit.edu	37	chr3	51458366	51458366	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctgggccacacacacaattGatgataatctgaagtgctga	9	9	2	4			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr3:51458366G>A	uc003dbe.1	-	14	2226	c.2058C>T	c.(2056-2058)ATC>ATT	p.I686I	VPRBP_uc003dbf.1_5'UTR	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	686					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		ACACACAATTGATGATAATCT	0.423													A	51458366	G	A	51458366	2	1	13	1	0	0	0	0	0	0	0	1	17182	1280	45	4		4	VPRBP	3	51458366	Silent	SNP	G	TCGA-BR-4267-01A-01D-1126-08	14089618	51458366	146564064	20	11301											
ARAP2	116984	broad.mit.edu	37	chr4	36189098	36189098	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttctactctaaaaacaaaAgttctttgtgttgtaacaac	4	7	3	0			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr4:36189098A>C	uc003gsq.1	-	8	1991	c.1653T>G	c.(1651-1653)ACT>ACG	p.T551T	ARAP2_uc003gsr.1_Silent_p.T551T	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	551	PH 1.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TAAAAACAAAAGTTCTTTGTG	0.299													C	36189098	A	C	36189098	2	2	13	1	0	0	0	0	0	0	0	1	839	59	3	5		5	ARAP2	4	36189098	Silent	SNP	A	TCGA-BR-4267-01A-01D-1126-08		36189098	154965178	21	11302											
SLC6A18	348932	broad.mit.edu	37	chr5	1243688	1243688	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agagtgcctcgggcccgggcCtggccttcgtcgtcttcacg	14	15	2	1	rs150034651		TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr5:1243688C>G	uc003jby.1	+	9	1273	c.1150C>G	c.(1150-1152)CTG>GTG	p.L384V		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	384	Extracellular (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGGCCCGGGCCTGGCCTTCGT	0.647													G	1243688	C	G	1243688	3	3	13	1	0	0	0	0	1	0	0	0	14681	680	24	5	1184	5	SLC6A18	5	1243688	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08		1243688	179671572	22	11303											
MARCH6	10299	broad.mit.edu	37	chr5	10411480	10411480	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttattgggagaccaggaagAaaatgaaaacagtgcaaatc	10	5	0	3			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr5:10411480A>T	uc003jet.1	+	19	1910	c.1727A>T	c.(1726-1728)GAA>GTA	p.E576V	MARCH6_uc011cmu.1_Missense_Mutation_p.E528V|MARCH6_uc003jeu.1_Missense_Mutation_p.E274V|MARCH6_uc011cmv.1_Missense_Mutation_p.E471V	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	576	Cytoplasmic (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						GACCAGGAAGAAAATGAAAAC	0.403													T	10411480	A	T	10411480	3	4	13	1	0	0	0	0	1	0	0	0	9305	246	9	5	1801	5	MARCH6	5	10411480	Missense_Mutation	SNP	A	TCGA-BR-4267-01A-01D-1126-08	9167792	10411480	170503780	23	11304											
RAB3C	115827	broad.mit.edu	37	chr5	58021913	58021913	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttattttaatgtatgacattAcaaatgaagaatccttcaat	4	5	1	3			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr5:58021913A>T	uc003jrp.2	+	3	434	c.337A>T	c.(337-339)ACA>TCA	p.T113S		NM_138453	NP_612462	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	113					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			ovary(1)|central_nervous_system(1)	2		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		GTATGACATTACAAATGAAGA	0.383													T	58021913	A	T	58021913	3	4	13	1	0	0	0	0	1	0	0	0	12933	391	14	5	347	5	RAB3C	5	58021913	Missense_Mutation	SNP	A	TCGA-BR-4267-01A-01D-1126-08	47610433	58021913	122893347	24	11305											
CMYA5	202333	broad.mit.edu	37	chr5	79034978	79034978	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttgagcacatcagtgaaAatgaatttgcgagtgaggca	11	7	1	4			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr5:79034978A>C	uc003kgc.2	+	2	10462	c.10390A>C	c.(10390-10392)AAT>CAT	p.N3464H		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3464						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CATCAGTGAAAATGAATTTGC	0.413													C	79034978	A	C	79034978	3	2	13	1	0	0	0	0	1	0	0	0	3590	14	1	5	10396	5	CMYA5	5	79034978	Missense_Mutation	SNP	A	TCGA-BR-4267-01A-01D-1126-08	21013065	79034978	101880282	25	11306											
VCAN	1462	broad.mit.edu	37	chr5	82876239	82876239	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gttggagccggaggtggcagGagtcgaggcgctgatcccta	18	9	0	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr5:82876239G>C	uc003kii.3	+	15	10533	c.10177G>C	c.(10177-10179)GAG>CAG	p.E3393Q	VCAN_uc003kij.3_Missense_Mutation_p.E2406Q|VCAN_uc010jau.2_Missense_Mutation_p.E1639Q|VCAN_uc003kik.3_Missense_Mutation_p.E652Q|VCAN_uc003kil.3_Missense_Mutation_p.E2057Q	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	3393					cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAGGTGGCAGGAGTCGAGGCG	0.408													C	82876239	G	C	82876239	3	2	13	1	0	0	0	0	1	0	0	0	17135	1175	41	5	10231	5	VCAN	5	82876239	Missense_Mutation	SNP	G	TCGA-BR-4267-01A-01D-1126-08	3841261	82876239	98039021	26	11307											
ELL2	22936	broad.mit.edu	37	chr5	95278749	95278749	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaggtcgaaaaggaattAaattctattaaaagaaacaa	7	3	1	2			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr5:95278749A>T	uc003klr.3	-	2	502	c.152T>A	c.(151-153)TTA>TAA	p.L51*		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	51					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				central_nervous_system(1)	1		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		AAAAGGAATTAAATTCTATTA	0.308													T	95278749	A	T	95278749	4	4	13	1	0	0	0	0	0	1	0	0	5063	372	13	5	1814	5	ELL2	5	95278749	Nonsense_Mutation	SNP	A	TCGA-BR-4267-01A-01D-1126-08	12402510	95278749	85636511	27	11308											
APC	324	broad.mit.edu	37	chr5	112174631	112174631	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaatggttcagaaacaaatCgagtgggttctaatcatgga	10	7	3	1	rs121913331		TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr5:112174631C>T	uc010jby.2	+	16	3720	c.3340C>T	c.(3340-3342)CGA>TGA	p.R1114*	APC_uc011cvt.1_Nonsense_Mutation_p.R1096*|APC_uc003kpz.3_Nonsense_Mutation_p.R1114*|APC_uc003kpy.3_Nonsense_Mutation_p.R1114*|APC_uc010jbz.2_Nonsense_Mutation_p.R831*|APC_uc010jca.2_Nonsense_Mutation_p.R414*	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1114	Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.R1114*(22)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGAAACAAATCGAGTGGGTTC	0.403	R1114*(SW948_LARGE_INTESTINE)|R1114*(LOVO_LARGE_INTESTINE)	12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			T	112174631	C	T	112174631	4	4	13	1	0	0	0	0	0	1	0	0	763	876	31	1	3398	1	APC	5	112174631	Nonsense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08	16895882	112174631	68740629	28	11309											
PCDHB8	56128	broad.mit.edu	37	chr5	140558485	140558485	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caagcttcagatgagataagCaaaacttttaaggtcgattt	8	6	1	2			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr5:140558485C>G	uc011dai.1	+	1	1056	c.870C>G	c.(868-870)AGC>AGG	p.S290R	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	290	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGAGATAAGCAAAACTTTTA	0.403													G	140558485	C	G	140558485	3	3	13	1	0	0	0	0	1	0	0	0	11548	709	25	5	872	5	PCDHB8	5	140558485	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08	28383854	140558485	40356775	29	11310											
HRH2	3274	broad.mit.edu	37	chr5	175110463	175110463	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggtgctgcccttctctgCcatctaccagctgtcctgca	8	17	2	0			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr5:175110463C>A	uc003mdd.2	+	1	2000	c.227C>A	c.(226-228)GCC>GAC	p.A76D	HRH2_uc003mdc.3_Missense_Mutation_p.A76D	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	76	Helical; Name=2; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CCCTTCTCTGCCATCTACCAG	0.557													A	175110463	C	A	175110463	3	1	13	1	0	0	0	0	1	0	0	0	7356	739	26	5	229	5	HRH2	5	175110463	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08	34551978	175110463	5804797	30	11311											
CDYL	9425	broad.mit.edu	37	chr6	4935819	4935819	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagacatctgttacaggagtGactgccagcaaaaggaaatt	10	8	1	2			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr6:4935819G>C	uc003mwi.2	+	5	1055	c.924G>C	c.(922-924)GTG>GTC	p.V308V	CDYL_uc003mwj.2_Silent_p.V254V|CDYL_uc003mwk.2_Silent_p.V19V|CDYL_uc011dhx.1_Silent_p.V122V|CDYL_uc011dhy.1_Silent_p.V122V	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	308					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TTACAGGAGTGACTGCCAGCA	0.453													C	4935819	G	C	4935819	2	2	13	1	0	0	0	0	0	0	0	1	3185	1277	45	5		5	CDYL	6	4935819	Silent	SNP	G	TCGA-BR-4267-01A-01D-1126-08		4935819	166179248	31	11312											
CDKAL1	54901	broad.mit.edu	37	chr6	20846367	20846367	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gaggaaatttggccagttatCcaattgatgaactagtagat	10	5	0	3			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr6:20846367C>G	uc003ndc.1	+	9	874	c.700C>G	c.(700-702)CCA>GCA	p.P234A	CDKAL1_uc003ndd.1_Missense_Mutation_p.P234A|CDKAL1_uc003nde.1_Missense_Mutation_p.P164A	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein	234					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			ovary(2)	2	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GGCCAGTTATCCAATTGATGA	0.318													G	20846367	C	G	20846367	3	3	13	1	0	0	0	0	1	0	0	0	3152	855	30	5	726	5	CDKAL1	6	20846367	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08	15910548	20846367	150268700	32	11313											
OR2J2	26707	broad.mit.edu	37	chr6	29141694	29141694	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccggaaaagaccatctcGtatgctggttgcatggttca	12	10	2	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr6:29141694G>A	uc011dlm.1	+	1	384	c.282G>A	c.(280-282)TCG>TCA	p.S94S		NM_030905	NP_112167	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGACCATCTCGTATGCTGGTT	0.473													A	29141694	G	A	29141694	2	1	13	1	0	0	0	0	0	0	0	1	11003	1132	40	1		1	OR2J2	6	29141694	Silent	SNP	G	TCGA-BR-4267-01A-01D-1126-08	8295327	29141694	141973373	33	11314											
GSTA5	221357	broad.mit.edu	37	chr6	52701078	52701078	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccataaaggttgtatttgctGgcaatgtagttaagaatggc	11	5	0	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr6:52701078G>C	uc003pba.1	-	4	298	c.228C>G	c.(226-228)GCC>GCG	p.A76A		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	76	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGTATTTGCTGGCAATGTAGT	0.433													C	52701078	G	C	52701078	2	2	13	1	0	0	0	0	0	0	0	1	6834	1335	47	5		5	GSTA5	6	52701078	Silent	SNP	G	TCGA-BR-4267-01A-01D-1126-08	23559384	52701078	118413989	34	11315											
MED23	9439	broad.mit.edu	37	chr6	131914216	131914216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaaggccatgagctccaCacaagtaacatggagagcat	10	11	0	2			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr6:131914216C>T	uc003qcs.1	-	24	3502	c.3328G>A	c.(3328-3330)GTG>ATG	p.V1110M	MED23_uc003qcq.2_Missense_Mutation_p.V1116M|MED23_uc003qcr.1_Translation_Start_Site	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	1110					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ATGAGCTCCACACAAGTAACA	0.468													T	131914216	C	T	131914216	3	4	13	1	0	0	0	0	1	0	0	0	9441	478	17	4	809	4	MED23	6	131914216	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08	79213138	131914216	39200851	35	11316											
FBXO24	26261	broad.mit.edu	37	chr7	100192033	100192033	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagatctactctttggtagTgaatgagacccagcttgacc	9	9	2	4			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr7:100192033T>C	uc003uvm.1	+	6	1114	c.821T>C	c.(820-822)GTG>GCG	p.V274A	FBXO24_uc003uvl.1_Missense_Mutation_p.V260A|FBXO24_uc003uvn.1_5'UTR|uc011kjy.1_Intron|FBXO24_uc011kjz.1_Missense_Mutation_p.V312A|FBXO24_uc011kka.1_Missense_Mutation_p.V262A	NM_033506	NP_277041	O75426	FBX24_HUMAN	F-box only protein 24 isoform 1	274						ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCTTTGGTAGTGAATGAGACC	0.547													C	100192033	T	C	100192033	3	2	13	1	0	0	0	0	1	0	0	0	5735	1696	59	3	1000	3	FBXO24	7	100192033	Missense_Mutation	SNP	T	TCGA-BR-4267-01A-01D-1126-08		100192033	58946630	36	11317											
MUC17	140453	broad.mit.edu	37	chr7	100686417	100686417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacacaagcacaacttttaCcccttctactgacactgcct	4	15	1	2			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr7:100686417C>T	uc003uxp.1	+	3	11773	c.11720C>T	c.(11719-11721)ACC>ATC	p.T3907I	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3907	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAACTTTTACCCCTTCTACT	0.483													T	100686417	C	T	100686417	3	4	13	1	0	0	0	0	1	0	0	0	9974	507	18	4	11730	4	MUC17	7	100686417	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08	494384	100686417	58452246	37	11318											
GPR37	2861	broad.mit.edu	37	chr7	124386683	124386683	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgttgtcattgtcatcacTggtcaccgttgaagacttct	8	11	5	2			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr7:124386683T>G	uc003vli.2	-	2	2389	c.1738A>C	c.(1738-1740)AGT>CGT	p.S580R		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	580	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						TTGTCATCACTGGTCACCGTT	0.498													G	124386683	T	G	124386683	3	3	13	1	0	0	0	0	1	0	0	0	6691	1580	55	5	107	5	GPR37	7	124386683	Missense_Mutation	SNP	T	TCGA-BR-4267-01A-01D-1126-08	23700266	124386683	34751980	38	11319											
TEX15	56154	broad.mit.edu	37	chr8	30699691	30699691	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatttattgttattttccccAggttttacaatatgaatatt	4	5	0	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr8:30699691A>T	uc003xil.2	-	1	6843	c.6843T>A	c.(6841-6843)CCT>CCA	p.P2281P		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2281										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TATTTTCCCCAGGTTTTACAA	0.328													T	30699691	A	T	30699691	2	4	13	1	0	0	0	0	0	0	0	1	15776	175	7	5		5	TEX15	8	30699691	Silent	SNP	A	TCGA-BR-4267-01A-01D-1126-08		30699691	115664331	39	11320											
OSR2	116039	broad.mit.edu	37	chr8	99961741	99961741	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaccaaatcctacaatttGctcatccatgagaggaccca	5	12	1	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr8:99961741G>A	uc003yir.2	+	2	1096	c.561G>A	c.(559-561)TTG>TTA	p.L187L	OSR2_uc010mbn.2_Silent_p.L187L|OSR2_uc003yiq.2_Silent_p.L187L|OSR2_uc011lgx.1_Silent_p.L308L	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	187	C2H2-type 1.				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CCTACAATTTGCTCATCCATG	0.527													A	99961741	G	A	99961741	2	1	13	1	0	0	0	0	0	0	0	1	11294	1310	46	2		2	OSR2	8	99961741	Silent	SNP	G	TCGA-BR-4267-01A-01D-1126-08	69262050	99961741	46402281	40	11321											
ADCY8	114	broad.mit.edu	37	chr8	132052171	132052171	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagaaatccgagttgcTaggggcacagtcaaggtgca	13	7	1	2			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr8:132052171T>G	uc003ytd.3	-	1	665	c.409A>C	c.(409-411)AGC>CGC	p.S137R	ADCY8_uc010mds.2_Missense_Mutation_p.S137R	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	137	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCCGAGTTGCTAGGGGCACAG	0.607										HNSCC(32;0.087)			G	132052171	T	G	132052171	3	3	13	1	0	0	0	0	1	0	0	0	300	1522	53	5	3418	5	ADCY8	8	132052171	Missense_Mutation	SNP	T	TCGA-BR-4267-01A-01D-1126-08	32090430	132052171	14311851	41	11322											
KLHL9	55958	broad.mit.edu	37	chr9	21334270	21334270	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagcacaaatgcaagtcGttcaaaagggagttttagaa	11	5	1	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr9:21334270G>A	uc003zoy.2	-	1	1160	c.589C>T	c.(589-591)CGA>TGA	p.R197*	KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	kelch-like 9	197	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				ovary(3)|skin(1)	4				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		AATGCAAGTCGTTCAAAAGGG	0.398													A	21334270	G	A	21334270	4	1	13	1	0	0	0	0	0	1	0	0	8396	1153	40	1	1268	1	KLHL9	9	21334270	Nonsense_Mutation	SNP	G	TCGA-BR-4267-01A-01D-1126-08		21334270	119879161	42	11323											
PRUNE2	158471	broad.mit.edu	37	chr9	79461440	79461458	+	Frame_Shift_Del	DEL	GATGAGCCAGTTGCTCGGT	GATGAGCCAGTTGCTCGGT	-													ccatctctcacctctgaggcGatgagccagttgctcggtga					rs73462346	byFrequency	TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr9:79461439_79461457CGATGAGCCAGTTGCTCGGT>C	uc010mpk.3	-	3	606_624	c.482_500ACCGAGCAACTGGCTCATCG>G	c.(481-501)accgagcaactggctcatcgcfs	p.T161fs	PRUNE2_uc022bih.1_5'UTR|PRUNE2_uc004akn.3_Frame_Shift_Del_p.T161fs	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	161					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACCTCTGAGGCGATGAGCCAGTTGCTCGGTGATGAGCTC	0.498													-	79461458	GATGAGCCAGTTGCTCGGT	-	79461440	7	5	13	1	0	1	0	1	0	0	0	0	12641	1058	37	0	8831	0	PRUNE2	9	79461440	Frame_Shift_Del	DEL	GATGAGCCAGTTGCTCGGT	TCGA-BR-4267-01A-01D-1126-08	58127170	79461440	61751991	43	11324											
TLE4	7091	broad.mit.edu	37	chr9	82335151	82335163	+	Frame_Shift_Del	DEL	CATGCTGCAGCGA	CATGCTGCAGCGA	-													cgattccaaggtctgcttctCatgctgcagcgacggcaaca					rs61112339	by1000genomes	TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr9:82335150_82335162TCATGCTGCAGCGA>T	uc004ald.3	+	16	2704_2716	c.1855_1867TCATGCTGCAGCGA>T	c.(1855-1869)tcatgctgcagcgacfs	p.S619fs	TLE4_uc004alc.3_Frame_Shift_Del_p.S594fs|TLE4_uc010mpr.3_Frame_Shift_Del_p.S473fs|TLE4_uc004ale.3_Frame_Shift_Del_p.S231fs|TLE4_uc011lsq.2_Frame_Shift_Del_p.S562fs|TLE4_uc010mps.3_Frame_Shift_Del_p.S518fs|TLE4_uc004alf.3_Frame_Shift_Del_p.S533fs	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0								p.G621*(1)|p.T619I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GGTCTGCTTCTCATGCTGCAGCGACGGCAACAT	0.587													-	82335163	CATGCTGCAGCGA	-	82335151	7	5	13	1	0	1	0	1	0	0	0	0	15938	838	29	0	1843	0	TLE4	9	82335151	Frame_Shift_Del	DEL	CATGCTGCAGCGA	TCGA-BR-4267-01A-01D-1126-08	2873711	82335151	58878280	44	11325											
ALAD	210	broad.mit.edu	37	chr9	116151266	116151266	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgcctacctgctctgcGgaaggcagtcatggcctcca	11	15	2	0			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr9:116151266G>T	uc011lxf.1	-	11	1124	c.922C>A	c.(922-924)CGC>AGC	p.R308S	ALAD_uc011lxe.1_Missense_Mutation_p.R291S|ALAD_uc004bhl.3_Missense_Mutation_p.R337S	NM_000031	NP_000022	P13716	HEM2_HUMAN	delta-aminolevulinic acid dehydratase	308					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding				0					Aminolevulinic acid(DB00855)	CCTGCTCTGCGGAAGGCAGTC	0.597													T	116151266	G	T	116151266	3	4	13	1	0	0	0	0	1	0	0	0	483	1116	39	5	78	5	ALAD	9	116151266	Missense_Mutation	SNP	G	TCGA-BR-4267-01A-01D-1126-08	33816115	116151266	25062165	45	11326											
TNFSF15	9966	broad.mit.edu	37	chr9	117568086	117568086	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agtgccatgtggcttacctgGaactgcacacaggcctctcc	10	14	1	0			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr9:117568086G>C	uc004bjh.2	-	1	323	c.207C>G	c.(205-207)TTC>TTG	p.F69L		NM_005118	NP_005109	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily,	69	Extracellular (Potential).				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding				0						GGCTTACCTGGAACTGCACAC	0.572													C	117568086	G	C	117568086	3	2	13	1	0	0	0	0	1	0	0	0	16305	1165	41	5	564	5	TNFSF15	9	117568086	Missense_Mutation	SNP	G	TCGA-BR-4267-01A-01D-1126-08	1416820	117568086	23645345	46	11327											
ZNF33A	7581	broad.mit.edu	37	chr10	38305806	38305806	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatgtttcaggtagaacAgaagtcccaggagtcagtat	11	7	2	3			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr10:38305806A>G	uc001izh.2	+	3	195	c.17A>G	c.(16-18)CAG>CGG	p.Q6R	ZNF33A_uc001izg.2_Missense_Mutation_p.Q6R|ZNF33A_uc010qev.1_Missense_Mutation_p.Q13R|ZNF33A_uc001izi.1_Missense_Mutation_p.Q6R|ZNF33A_uc001izj.2_RNA	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	6						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						CAGGTAGAACAGAAGTCCCAG	0.413													G	38305806	A	G	38305806	3	3	13	1	0	0	0	0	1	0	0	0	17851	188	7	3	23	3	ZNF33A	10	38305806	Missense_Mutation	SNP	A	TCGA-BR-4267-01A-01D-1126-08		38305806	97228941	47	11328											
IFIT1B	439996	broad.mit.edu	37	chr10	91143104	91143104	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgatggaaagcttattgaaGacagcctgattcagctgaga	11	7	1	5			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr10:91143104G>C	uc001kgh.2	+	2	114	c.34G>C	c.(34-36)GAC>CAC	p.D12H	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	interferon-induced protein with	12							binding				0						GCTTATTGAAGACAGCCTGAT	0.373													C	91143104	G	C	91143104	3	2	13	1	0	0	0	0	1	0	0	0	7522	942	33	5	40	5	IFIT1B	10	91143104	Missense_Mutation	SNP	G	TCGA-BR-4267-01A-01D-1126-08	52837298	91143104	44391643	48	11329											
B4GALNT4	338707	broad.mit.edu	37	chr11	379952	379952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggactcgcgtttcagcgtcGtcctggtggatttcgagagc	15	10	1	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr11:379952G>A	uc001lpb.2	+	16	2584	c.2575G>A	c.(2575-2577)GTC>ATC	p.V859I		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	859	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTTCAGCGTCGTCCTGGTGGA	0.667													A	379952	G	A	379952	3	1	13	1	0	0	0	0	1	0	0	0	1269	1145	40	1	2637	1	B4GALNT4	11	379952	Missense_Mutation	SNP	G	TCGA-BR-4267-01A-01D-1126-08		379952	134626564	49	11330											
CDHR5	53841	broad.mit.edu	37	chr11	618098	618098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgagaagcgcttgtcctcCgaggggccgccacctggcat	13	15	0	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr11:618098C>T	uc001lqj.2	-	14	2079	c.1974G>A	c.(1972-1974)TCG>TCA	p.S658S	IRF7_uc009ycb.2_5'Flank|IRF7_uc010qwf.1_5'Flank|IRF7_uc001lqf.2_5'Flank|IRF7_uc010qwg.1_5'Flank|IRF7_uc001lqg.2_5'Flank|IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Silent_p.S464S|CDHR5_uc009ycc.2_Silent_p.S492S|CDHR5_uc009ycd.2_Silent_p.S652S|CDHR5_uc001lql.2_Silent_p.S658S	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	658	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						GCTTGTCCTCCGAGGGGCCGC	0.652													T	618098	C	T	618098	2	4	13	1	0	0	0	0	0	0	0	1	3122	639	23	1		1	CDHR5	11	618098	Silent	SNP	C	TCGA-BR-4267-01A-01D-1126-08	238146	618098	134388418	50	11331											
TRIM22	10346	broad.mit.edu	37	chr11	5730579	5730579	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attattcaaaagtttactccAgatatagacctcaatatggc	5	8	2	2			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr11:5730579A>T	uc001mbr.2	+	8	1475	c.1198A>T	c.(1198-1200)AGA>TGA	p.R400*	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Nonsense_Mutation_p.R396*|TRIM22_uc010qzm.1_Nonsense_Mutation_p.R228*|TRIM22_uc009yeu.2_Nonsense_Mutation_p.R211*|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	tripartite motif-containing 22	400	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding				0		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		AGTTTACTCCAGATATAGACC	0.383													T	5730579	A	T	5730579	4	4	13	1	0	0	0	0	0	1	0	0	16493	180	7	5	1224	5	TRIM22	11	5730579	Nonsense_Mutation	SNP	A	TCGA-BR-4267-01A-01D-1126-08	5112481	5730579	129275937	51	11332											
ZNF408	79797	broad.mit.edu	37	chr11	46726634	46726634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgcaagacccaccaggtgCcagctgcccctgccccttgc	9	19	0	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr11:46726634C>T	uc001nde.1	+	5	1614	c.1384C>T	c.(1384-1386)CCA>TCA	p.P462S	ZNF408_uc010rgw.1_Missense_Mutation_p.P454S	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding				0						CCACCAGGTGCCAGCTGCCCC	0.662													T	46726634	C	T	46726634	3	4	13	1	0	0	0	0	1	0	0	0	17885	739	26	2	1434	2	ZNF408	11	46726634	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08	40996055	46726634	88279882	52	11333											
NR1H3	10062	broad.mit.edu	37	chr11	47282926	47282926	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctcagcccggaacaactgGgcatgatcgagaagctcgtc	12	12	1	2			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr11:47282926G>T	uc009ylm.2	+	5	855	c.634G>T	c.(634-636)GGC>TGC	p.G212C	NR1H3_uc009yll.1_Missense_Mutation_p.G218C|NR1H3_uc010rhk.1_Missense_Mutation_p.G218C|NR1H3_uc001nek.2_Missense_Mutation_p.G167C|NR1H3_uc001nej.2_Missense_Mutation_p.G212C|NR1H3_uc001nel.2_Missense_Mutation_p.G167C|NR1H3_uc001nen.3_Missense_Mutation_p.G212C|NR1H3_uc001nem.2_Missense_Mutation_p.G212C|NR1H3_uc001nep.2_Missense_Mutation_p.G121C	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	212					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			ovary(2)|lung(1)	3						GGAACAACTGGGCATGATCGA	0.617													T	47282926	G	T	47282926	3	4	13	1	0	0	0	0	1	0	0	0	10618	1232	43	5	648	5	NR1H3	11	47282926	Missense_Mutation	SNP	G	TCGA-BR-4267-01A-01D-1126-08	556292	47282926	87723590	53	11334											
OR5F1	338674	broad.mit.edu	37	chr11	55761793	55761793	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttgtcgccagggagataaaGaagtacatctgtaggaagca	13	6	1	2			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr11:55761793G>T	uc010riv.1	-	1	309	c.309C>A	c.(307-309)TTC>TTA	p.F103L		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	103	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					GGGAGATAAAGAAGTACATCT	0.458													T	55761793	G	T	55761793	3	4	13	1	0	0	0	0	1	0	0	0	11158	933	33	5	638	5	OR5F1	11	55761793	Missense_Mutation	SNP	G	TCGA-BR-4267-01A-01D-1126-08	8478867	55761793	79244723	54	11335											
SYT7	9066	broad.mit.edu	37	chr11	61300595	61300595	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccttccctcctgcaggcaAcctgagggcaggggagtcca	13	15	0	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr11:61300595A>G	uc001nrv.2	-	4	223	c.217T>C	c.(217-219)TTG>CTG	p.L73L	SYT7_uc009ynr.2_Silent_p.L148L	NM_004200	NP_004191	O43581	SYT7_HUMAN	synaptotagmin VII	73	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4						CCTGCAGGCAACCTGAGGGCA	0.662													G	61300595	A	G	61300595	2	3	13	1	0	0	0	0	0	0	0	1	15476	57	2	3		3	SYT7	11	61300595	Silent	SNP	A	TCGA-BR-4267-01A-01D-1126-08	5538802	61300595	73705921	55	11336											
KRAS	3845	broad.mit.edu	37	chr12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggcactcttgcctacgCcaccagctccaactaccaca	5	18	2	0	rs112445441		TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr12:25398281C>T	uc001rgp.1	-	2	219	c.38G>A	c.(37-39)GGC>GAC	p.G13D	KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	13	GTP.		G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).|G -> D (in a breast carcinoma cell line and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13D(2647)|p.G13C(182)|p.G13S(58)|p.G13R(41)|p.G13V(27)|p.G13A(24)|p.G13G(11)|p.G13E(4)|p.G12_G13insG(4)|p.G13N(3)|p.G13I(1)|p.G13_V14>DI(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(NCIH647_LUNG)|G13D(MDAMB231_BREAST)|G13D(NCIH747_LARGE_INTESTINE)|G13D(T84_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT15_LARGE_INTESTINE)|G13D(HCT116_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25398281	C	T	25398281	3	4	13	1	0	0	0	0	1	0	0	0	8438	739	26	2	668	2	KRAS	12	25398281	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08		25398281	108453614	56	11337											
ARID2	196528	broad.mit.edu	37	chr12	46240719	46240738	+	Splice_Site	DEL	TGGTAAGTGGTTTATTTCTA	TGGTAAGTGGTTTATTTCTA	-													gtgagaagtttgcttgtcagTggtaagtggtttatttctat							TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr12:46240719_46240738delTGGTAAGTGGTTTATTTCTA	uc001ros.1	+	12	1580	c.1580_splice	c.e12+1	p.W527_splice	ARID2_uc001ror.2_Splice_Site_p.W527_splice|ARID2_uc009zkg.1_Splice_Site|ARID2_uc009zkh.1_Splice_Site_p.W154_splice	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGCTTGTCAGTGGTAAGTGGTTTATTTCTATTAAGGATTT	0.359													-	46240738	TGGTAAGTGGTTTATTTCTA	-	46240719	8	5	13	1	0	1	0	1	0	0	1	0	915	1710	59	0	1625	0	ARID2	12	46240719	Splice_Site	DEL	TGGTAAGTGGTTTATTTCTA	TCGA-BR-4267-01A-01D-1126-08	20842438	46240719	87611176	57	11338											
MLL2	8085	broad.mit.edu	37	chr12	49424548	49424548	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgttaggggcagcagggacaGctcctacaaggggcaagatg	16	9	0	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr12:49424548G>C	uc001rta.3	-	41	13675	c.13675C>G	c.(13675-13677)CTG>GTG	p.L4559V		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4559					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGCAGGGACAGCTCCTACAAG	0.587			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			C	49424548	G	C	49424548	3	2	13	1	0	0	0	0	1	0	0	0	9621	962	34	5	2994	5	MLL2	12	49424548	Missense_Mutation	SNP	G	TCGA-BR-4267-01A-01D-1126-08	3183829	49424548	84427347	58	11339											
KIAA0748	9840	broad.mit.edu	37	chr12	55356379	55356379	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctctttcttgctctgctctTtcttttccagaaagtctcat	5	12	6	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr12:55356379T>A	uc001sgn.3	-	9	1413	c.1303A>T	c.(1303-1305)AAG>TAG	p.K435*	KIAA0748_uc001sgl.3_Nonsense_Mutation_p.K297*|KIAA0748_uc001sgm.3_Nonsense_Mutation_p.K182*|KIAA0748_uc010spb.1_Nonsense_Mutation_p.K182*|KIAA0748_uc010spc.1_Nonsense_Mutation_p.K297*|KIAA0748_uc010spd.1_Nonsense_Mutation_p.K435*|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	435										ovary(1)|central_nervous_system(1)	2						GCTCTGCTCTTTCTTTTCCAG	0.502													A	55356379	T	A	55356379	4	1	13	1	0	0	0	0	0	1	0	0	8190	1850	64	5	270	5	KIAA0748	12	55356379	Nonsense_Mutation	SNP	T	TCGA-BR-4267-01A-01D-1126-08	5931831	55356379	78495516	59	11340											
BTBD11	121551	broad.mit.edu	37	chr12	108045467	108045467	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagcttctgtctgctgctaAgtttttccagctggaggctt	10	9	2	0			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr12:108045467A>C	uc001tmk.1	+	16	3529	c.3008A>C	c.(3007-3009)AAG>ACG	p.K1003T	BTBD11_uc001tml.1_Missense_Mutation_p.K540T|BTBD11_uc001tmm.1_Missense_Mutation_p.K82T	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	1003						integral to membrane	DNA binding			skin(2)|ovary(1)	3						TCTGCTGCTAAGTTTTTCCAG	0.438													C	108045467	A	C	108045467	3	2	13	1	0	0	0	0	1	0	0	0	1539	72	3	5	3175	5	BTBD11	12	108045467	Missense_Mutation	SNP	A	TCGA-BR-4267-01A-01D-1126-08	52689088	108045467	25806428	60	11341											
NOS1	4842	broad.mit.edu	37	chr12	117657958	117657958	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgatgcgctggatggctttGaggacatcagcagccatggt	14	8	1	2			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr12:117657958G>C	uc001twm.1	-	27	4778	c.4092C>G	c.(4090-4092)CTC>CTG	p.L1364L		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1364					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGATGGCTTTGAGGACATCAG	0.612													C	117657958	G	C	117657958	2	2	13	1	0	0	0	0	0	0	0	1	10541	1277	45	5		5	NOS1	12	117657958	Silent	SNP	G	TCGA-BR-4267-01A-01D-1126-08	9612491	117657958	16193937	61	11342											
RNF10	9921	broad.mit.edu	37	chr12	121013630	121013630	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcctgcccctgtggacAgcgacggggagagtgataat	13	11	0	2			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr12:121013630A>G	uc001typ.3	+	16	2719	c.2236A>G	c.(2236-2238)AGC>GGC	p.S746G	RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.S657G	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	ring finger protein 10	746					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCTGTGGACAGCGACGGGGA	0.428													G	121013630	A	G	121013630	3	3	13	1	0	0	0	0	1	0	0	0	13422	188	7	3	2298	3	RNF10	12	121013630	Missense_Mutation	SNP	A	TCGA-BR-4267-01A-01D-1126-08	3355672	121013630	12838265	62	11343											
OGFOD2	79676	broad.mit.edu	37	chr12	123463763	123463763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaccttgtcgtctggctccGagcctctgctgtgcgcaaca	11	14	2	0			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr12:123463763G>A	uc001uea.1	+	7	944	c.923G>A	c.(922-924)CGA>CAA	p.R308Q	OGFOD2_uc001uds.1_Missense_Mutation_p.R144Q|OGFOD2_uc001udt.1_Missense_Mutation_p.R144Q|OGFOD2_uc001udu.1_Missense_Mutation_p.R144Q|OGFOD2_uc001udv.1_Missense_Mutation_p.R144Q|OGFOD2_uc009zxs.1_Missense_Mutation_p.R144Q|OGFOD2_uc001udw.1_Missense_Mutation_p.R144Q|OGFOD2_uc001udx.1_Missense_Mutation_p.R144Q|OGFOD2_uc001udy.1_Missense_Mutation_p.R144Q|OGFOD2_uc001udz.1_Missense_Mutation_p.R248Q|OGFOD2_uc001ueb.1_Missense_Mutation_p.R144Q|ARL6IP4_uc001uec.2_5'Flank|ARL6IP4_uc001ued.2_5'Flank|ARL6IP4_uc001uee.2_5'Flank|ARL6IP4_uc001uef.2_5'Flank|ARL6IP4_uc001ueg.2_5'Flank|ARL6IP4_uc009zxt.2_5'Flank|ARL6IP4_uc001ueh.2_5'Flank|ARL6IP4_uc001uei.2_5'Flank	NM_024623	NP_078899	Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase	308	Fe2OG dioxygenase.						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			pancreas(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	GTCTGGCTCCGAGCCTCTGCT	0.672													A	123463763	G	A	123463763	3	1	13	1	0	0	0	0	1	0	0	0	10842	1058	37	1	765	1	OGFOD2	12	123463763	Missense_Mutation	SNP	G	TCGA-BR-4267-01A-01D-1126-08	2450133	123463763	10388132	63	11344											
KPNA3	3839	broad.mit.edu	37	chr13	50283717	50283717	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atatgccttaccttatttatCttctcttttgggtgtgataa	6	7	2	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr13:50283717C>G	uc001vdj.2	-	12	1438	c.1023G>C	c.(1021-1023)AAG>AAC	p.K341N		NM_002267	NP_002258	O00505	IMA3_HUMAN	karyopherin alpha 3	341	NLS binding site (minor) (By similarity).|ARM 7.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity				0		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		CCTTATTTATCTTCTCTTTTG	0.388													G	50283717	C	G	50283717	3	3	13	1	0	0	0	0	1	0	0	0	8431	912	32	5	566	5	KPNA3	13	50283717	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08		50283717	64886161	64	11345											
DCT	1638	broad.mit.edu	37	chr13	95118904	95118904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctatggccctgtaggggcGtcctggtcctgaaacaattg	12	10	1	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr13:95118904G>A	uc001vlv.3	-	3	1031	c.604C>T	c.(604-606)CGC>TGC	p.R202C	DCT_uc010afh.2_Missense_Mutation_p.R202C	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	202	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		CTGTAGGGGCGTCCTGGTCCT	0.418													A	95118904	G	A	95118904	3	1	13	1	0	0	0	0	1	0	0	0	4304	1145	40	1	1086	1	DCT	13	95118904	Missense_Mutation	SNP	G	TCGA-BR-4267-01A-01D-1126-08	44835187	95118904	20050974	65	11346											
HS6ST3	266722	broad.mit.edu	37	chr13	96743492	96743492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgccccgattcgtgccgCgcttcaacttcagcctgaag	9	17	2	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr13:96743492C>T	uc001vmw.2	+	1	400	c.376C>T	c.(376-378)CGC>TGC	p.R126C		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	126	Lumenal (Potential).					integral to membrane	sulfotransferase activity			ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					ATTCGTGCCGCGCTTCAACTT	0.552													T	96743492	C	T	96743492	3	4	13	1	0	0	0	0	1	0	0	0	7372	768	27	1	378	1	HS6ST3	13	96743492	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08	1624588	96743492	18426386	66	11347											
TRIM9	114088	broad.mit.edu	37	chr14	51448802	51448802	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccgagtgcgccgagccaggGtcgaaagcaaaccaggccac	13	14	0	0			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr14:51448802G>C	uc001wyx.3	-	8	2388	c.1623C>G	c.(1621-1623)GAC>GAG	p.D541E	TRIM9_uc001wyy.2_Missense_Mutation_p.D622E	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	541	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					CCGAGCCAGGGTCGAAAGCAA	0.537													C	51448802	G	C	51448802	3	2	13	1	0	0	0	0	1	0	0	0	16546	1252	44	5	521	5	TRIM9	14	51448802	Missense_Mutation	SNP	G	TCGA-BR-4267-01A-01D-1126-08		51448802	55900738	67	11348											
C14orf73	91828	broad.mit.edu	37	chr14	103566569	103566569	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgccaagatgccatcaccaCagacagacactcctgggccg	9	16	1	3			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr14:103566569C>G	uc001ymk.2	+	1	89	c.13C>G	c.(13-15)CAG>GAG	p.Q5E		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	hypothetical protein LOC91828	5											0		Melanoma(154;0.155)	Epithelial(46;0.221)			GCCATCACCACAGACAGACAC	0.627													G	103566569	C	G	103566569	3	3	13	1	0	0	0	0	1	0	0	0	1779	479	17	5	15	5	C14orf73	14	103566569	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08	52117767	103566569	3782971	68	11349											
RYR3	6263	broad.mit.edu	37	chr15	33878223	33878223	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttggaagttttgcactgcaTcttaactgaaagcccagaag	9	9	1	2			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr15:33878223T>A	uc001zhi.2	+	16	1764	c.1694T>A	c.(1693-1695)ATC>AAC	p.I565N	RYR3_uc010bar.2_Missense_Mutation_p.I565N	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	565	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCACTGCATCTTAACTGAA	0.443													A	33878223	T	A	33878223	3	1	13	1	0	0	0	0	1	0	0	0	13770	1435	50	5	1756	5	RYR3	15	33878223	Missense_Mutation	SNP	T	TCGA-BR-4267-01A-01D-1126-08		33878223	68653169	69	11350											
IDH3A	3419	broad.mit.edu	37	chr15	78454614	78454614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagtatcaagctcatcacCgagggggcgagcaagcgcat	13	11	3	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr15:78454614C>T	uc002bdd.2	+	6	543	c.516C>T	c.(514-516)ACC>ACT	p.T172T	IDH3A_uc010umt.1_Silent_p.T137T|IDH3A_uc010umu.1_Silent_p.T63T|IDH3A_uc002bde.2_Silent_p.T122T|IDH3A_uc010umv.1_Silent_p.T122T|IDH3A_uc002bdf.2_Silent_p.T23T|IDH3A_uc002bdg.2_Silent_p.T85T	NM_005530	NP_005521	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	172					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)	AGCTCATCACCGAGGGGGCGA	0.547													T	78454614	C	T	78454614	2	4	13	1	0	0	0	0	0	0	0	1	7496	639	23	1		1	IDH3A	15	78454614	Silent	SNP	C	TCGA-BR-4267-01A-01D-1126-08	44576391	78454614	24076778	70	11351											
ADCY9	115	broad.mit.edu	37	chr16	4164838	4164838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtaaggttggagctgtcGccgcgtcctgagacaggcgt	16	11	0	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr16:4164838G>A	uc002cvx.2	-	2	1145	c.606C>T	c.(604-606)GGC>GGT	p.G202G		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	202	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						TGGAGCTGTCGCCGCGTCCTG	0.597													A	4164838	G	A	4164838	2	1	13	1	0	0	0	0	0	0	0	1	301	1074	38	1		1	ADCY9	16	4164838	Silent	SNP	G	TCGA-BR-4267-01A-01D-1126-08		4164838	86189915	71	11352											
RRN3	54700	broad.mit.edu	37	chr16	15155664	15155664	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acactacttgaaggacttcgGaaatgcgtgtcaaaggagct	11	8	1	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr16:15155664G>T	uc002dde.2	-	18	1961	c.1893C>A	c.(1891-1893)TTC>TTA	p.F631L	PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_Missense_Mutation_p.F499L|RRN3_uc010uzq.1_Missense_Mutation_p.F601L	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor	631	Interaction with EIF3L.|Interaction with TWISTNB.				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				ovary(1)	1						AAGGACTTCGGAAATGCGTGT	0.493													T	15155664	G	T	15155664	3	4	13	1	0	0	0	0	1	0	0	0	13684	1165	41	5	66	5	RRN3	16	15155664	Missense_Mutation	SNP	G	TCGA-BR-4267-01A-01D-1126-08	10990826	15155664	75199089	72	11353											
ACSM3	6296	broad.mit.edu	37	chr16	20796353	20796353	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagtgctggggaaccaaTtacccctgacgtgactgaaa	12	9	0	4			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr16:20796353T>C	uc002dhr.2	+	8	1254	c.1067T>C	c.(1066-1068)ATT>ACT	p.I356T	ACSM3_uc002dhq.2_Missense_Mutation_p.I356T|ACSM3_uc010vba.1_Missense_Mutation_p.I385T|ERI2_uc002dhs.2_Intron	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	SA hypertension-associated homolog isoform 1	356					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			ovary(1)	1						GGGGAACCAATTACCCCTGAC	0.423													C	20796353	T	C	20796353	3	2	13	1	0	0	0	0	1	0	0	0	185	1493	52	3	1093	3	ACSM3	16	20796353	Missense_Mutation	SNP	T	TCGA-BR-4267-01A-01D-1126-08	5640689	20796353	69558400	73	11354											
DNAH3	55567	broad.mit.edu	37	chr16	20975848	20975848	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagacaggggtgcctaactGcagcgcgttttccagcatcc	11	13	0	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr16:20975848G>A	uc010vbe.1	-	53	9358	c.9358C>T	c.(9358-9360)CAG>TAG	p.Q3120*	DNAH3_uc010vbd.1_Nonsense_Mutation_p.Q555*	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3120	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GTGCCTAACTGCAGCGCGTTT	0.448													A	20975848	G	A	20975848	4	1	13	1	0	0	0	0	0	1	0	0	4603	1328	46	2	3031	2	DNAH3	16	20975848	Nonsense_Mutation	SNP	G	TCGA-BR-4267-01A-01D-1126-08	179495	20975848	69378905	74	11355											
BRD7	29117	broad.mit.edu	37	chr16	50354623	50354623	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccaaaatttgttactgctttCagcgctatgagcctgtcttg	8	10	2	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr16:50354623C>A	uc002egf.1	-	15	1630	c.1563G>T	c.(1561-1563)CTG>CTT	p.L521L	BRD7_uc002ege.1_Silent_p.L522L	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	bromodomain containing 7	521					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding				0		all_cancers(37;0.0127)				TTACTGCTTTCAGCGCTATGA	0.453													A	50354623	C	A	50354623	2	1	13	1	0	0	0	0	0	0	0	1	1505	813	29	5		5	BRD7	16	50354623	Silent	SNP	C	TCGA-BR-4267-01A-01D-1126-08	29378775	50354623	40000130	75	11356											
CES7	221223	broad.mit.edu	37	chr16	55899941	55899941	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagagctggggtccccaccGaagaactcgatgttcttctg	11	12	2	2			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr16:55899941G>A	uc002eip.2	-	5	788	c.639C>T	c.(637-639)TTC>TTT	p.F213F	CES7_uc002eio.2_Silent_p.F213F|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Silent_p.F107F	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	213						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		GGTCCCCACCGAAGAACTCGA	0.547													A	55899941	G	A	55899941	2	1	13	1	0	0	0	0	0	0	0	1	3272	1049	37	1		1	CES7	16	55899941	Silent	SNP	G	TCGA-BR-4267-01A-01D-1126-08	5545318	55899941	34454812	76	11357											
HYDIN	54768	broad.mit.edu	37	chr16	70934955	70934955	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaggcttggtgggctgaaaGtacaggtgcaggccgtactc	15	9	0	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr16:70934955G>T	uc002ezr.2	-	53	9125	c.8997C>A	c.(8995-8997)TAC>TAA	p.Y2999*		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3000										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TGGGCTGAAAGTACAGGTGCA	0.517													T	70934955	G	T	70934955	4	4	13	1	0	0	0	0	0	1	0	0	7467	1024	36	5	6501	5	HYDIN	16	70934955	Nonsense_Mutation	SNP	G	TCGA-BR-4267-01A-01D-1126-08	15035014	70934955	19419798	77	11358											
ZNF19	7567	broad.mit.edu	37	chr16	71512174	71512174	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgggggatcatcctgTgcttccaggccccaagccat	11	14	2	0			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr16:71512174T>A	uc010cgc.1	-	5	737	c.231A>T	c.(229-231)GCA>GCT	p.A77A	ZNF23_uc002fai.2_5'UTR|ZNF19_uc002fak.1_Silent_p.A65A|ZNF19_uc002fal.1_Silent_p.A65A|ZNF19_uc002fam.1_Silent_p.A77A	NM_006961	NP_008892	P17023	ZNF19_HUMAN	zinc finger protein 19	77	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		GATCATCCTGTGCTTCCAGGC	0.468													A	71512174	T	A	71512174	2	1	13	1	0	0	0	0	0	0	0	1	17752	1683	59	5		5	ZNF19	16	71512174	Silent	SNP	T	TCGA-BR-4267-01A-01D-1126-08	577219	71512174	18842579	78	11359											
KCNG4	93107	broad.mit.edu	37	chr16	84270603	84270603	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tccagcttcctcagcagcttCcgcaggcagcacctctccag	8	18	2	0			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr16:84270603C>A	uc010voc.1	-	2	610	c.489G>T	c.(487-489)CGG>CGT	p.R163R	KCNG4_uc002fhu.1_Silent_p.R163R	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	163						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						TCAGCAGCTTCCGCAGGCAGC	0.667													A	84270603	C	A	84270603	2	1	13	1	0	0	0	0	0	0	0	1	8030	842	30	5		5	KCNG4	16	84270603	Silent	SNP	C	TCGA-BR-4267-01A-01D-1126-08	12758429	84270603	6084150	79	11360											
ITGB3	3690	broad.mit.edu	37	chr17	45362061	45362061	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcgaaaacccctgctatgAgtaagtccctcctccagacg	7	16	0	2			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr17:45362061A>C	uc002ilj.2	+	4	634	c.614A>C	c.(613-615)GAT>GCT	p.D205A	ITGB3_uc002ili.1_Missense_Mutation_p.D205A|ITGB3_uc010wkr.1_RNA	NM_000212	NP_000203	P05106	ITB3_HUMAN	integrin beta chain, beta 3 precursor	205	VWFA.|Extracellular (Potential).			D -> EY (in Ref. 11; AAA67537).	activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			central_nervous_system(5)|large_intestine(1)	6					Abciximab(DB00054)|Tirofiban(DB00775)	CCCTGCTATGAGTAAGTCCCT	0.532													C	45362061	A	C	45362061	3	2	13	1	0	0	0	0	1	0	0	0	7895	318	11	5	628	5	ITGB3	17	45362061	Missense_Mutation	SNP	A	TCGA-BR-4267-01A-01D-1126-08		45362061	35833149	80	11361											
MIB1	57534	broad.mit.edu	37	chr18	19418419	19418419	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttacatctggctgccctTaataatcacgtagaagtggc	9	11	2	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr18:19418419T>G	uc002ktq.2	+	13	1923	c.1923T>G	c.(1921-1923)CTT>CTG	p.L641L	MIB1_uc002ktp.2_Silent_p.L280L	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	641	ANK 7.				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)			TGGCTGCCCTTAATAATCACG	0.353													G	19418419	T	G	19418419	2	3	13	1	0	0	0	0	0	0	0	1	9566	1741	61	5		5	MIB1	18	19418419	Silent	SNP	T	TCGA-BR-4267-01A-01D-1126-08		19418419	58658829	81	11362											
SMAD4	4089	broad.mit.edu	37	chr18	48591919	48591919	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggacccttctggaggagatcGcttttgtttgggtcaactct	12	9	3	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr18:48591919G>C	uc010xdp.1	+	9	1620	c.1082G>C	c.(1081-1083)CGC>CCC	p.R361P	SMAD4_uc002lfb.3_Missense_Mutation_p.R206P	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	361	MH2.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in JPS).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.R361C(6)|p.R361H(3)|p.?(2)|p.R361S(1)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGAGGAGATCGCTTTTGTTTG	0.413									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				C	48591919	G	C	48591919	3	2	13	1	0	0	0	0	1	0	0	0	14760	1087	38	5	1112	5	SMAD4	18	48591919	Missense_Mutation	SNP	G	TCGA-BR-4267-01A-01D-1126-08	29173500	48591919	29485329	82	11363											
PCSK4	54760	broad.mit.edu	37	chr19	1481839	1481839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcgtatagtgggaggtcCatggacatgccgcagaggac	16	9	0	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr19:1481839C>T	uc002ltb.1	-	15	2249	c.2187G>A	c.(2185-2187)ATG>ATA	p.M729I	C19orf25_uc010xgn.1_5'Flank|C19orf25_uc002lsy.3_5'Flank|C19orf25_uc010dsk.2_5'Flank|C19orf25_uc010xgo.1_5'Flank|C19orf25_uc002lsx.1_5'Flank|PCSK4_uc002lsz.2_Missense_Mutation_p.M216I|PCSK4_uc002lta.2_3'UTR	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	729	Helical; (Potential).				proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGGAGGTCCATGGACATGC	0.677													T	1481839	C	T	1481839	3	4	13	1	0	0	0	0	1	0	0	0	11602	594	21	4	84	4	PCSK4	19	1481839	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08		1481839	57647144	83	11364											
CREB3L3	84699	broad.mit.edu	37	chr19	4159760	4159760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtgaaagacctcctcctttCgggcagcagtggggacctgg	14	12	0	2			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr19:4159760C>T	uc002lzl.2	+	4	673	c.557C>T	c.(556-558)TCG>TTG	p.S186L	CREB3L3_uc002lzm.2_Missense_Mutation_p.S176L|CREB3L3_uc010xib.1_Missense_Mutation_p.S177L|CREB3L3_uc010xic.1_Missense_Mutation_p.S177L	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	186	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTCCTTTCGGGCAGCAGT	0.433													T	4159760	C	T	4159760	3	4	13	1	0	0	0	0	1	0	0	0	3858	893	31	1	571	1	CREB3L3	19	4159760	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08	2677921	4159760	54969223	84	11365											
UNC13A	23025	broad.mit.edu	37	chr19	17738735	17738735	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgtagctgttgagtgttattCatgagaatgcagggctgtgg	15	5	1	2			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr19:17738735C>T	uc002nhd.2	-	32	4032	c.4032G>A	c.(4030-4032)ATG>ATA	p.M1344I		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	1256					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						GAGTGTTATTCATGAGAATGC	0.597													T	17738735	C	T	17738735	3	4	13	1	0	0	0	0	1	0	0	0	16981	826	29	4	1391	4	UNC13A	19	17738735	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08	13578975	17738735	41390248	85	11366											
ZNF607	84775	broad.mit.edu	37	chr19	38190035	38190035	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acattcatagtgtttctcccCtgaataaattctctgatgca	5	10	3	2			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr19:38190035C>G	uc002ohc.1	-	5	1593	c.997G>C	c.(997-999)GGG>CGG	p.G333R	ZNF607_uc002ohb.1_Missense_Mutation_p.G332R	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TGTTTCTCCCCTGAATAAATT	0.378													G	38190035	C	G	38190035	3	3	13	1	0	0	0	0	1	0	0	0	18030	681	24	5	1097	5	ZNF607	19	38190035	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08	20451300	38190035	20938948	86	11367											
RYR1	6261	broad.mit.edu	37	chr19	38968395	38968395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacaggagcccagctgcGtgtgggcgggctgggtcacc	18	12	1	0			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr19:38968395G>A	uc002oit.2	+	30	4469	c.4339G>A	c.(4339-4341)GTG>ATG	p.V1447M	RYR1_uc002oiu.2_Missense_Mutation_p.V1447M	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1447	Cytoplasmic.|B30.2/SPRY 3.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCCCAGCTGCGTGTGGGCGGG	0.597													A	38968395	G	A	38968395	3	1	13	1	0	0	0	0	1	0	0	0	13768	1145	40	1	4457	1	RYR1	19	38968395	Missense_Mutation	SNP	G	TCGA-BR-4267-01A-01D-1126-08	778360	38968395	20160588	87	11368											
SPTBN4	57731	broad.mit.edu	37	chr19	41003482	41003482	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccgcacagctgagcagcaccTggggctggcgcggctgctgg	17	14	0	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr19:41003482T>A	uc002ony.2	+	7	841	c.755T>A	c.(754-756)CTG>CAG	p.L252Q	SPTBN4_uc002onx.2_Missense_Mutation_p.L252Q|SPTBN4_uc002onz.2_Missense_Mutation_p.L252Q	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	252	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGCAGCACCTGGGGCTGGCG	0.622													A	41003482	T	A	41003482	3	1	13	1	0	0	0	0	1	0	0	0	15120	1580	55	5	777	5	SPTBN4	19	41003482	Missense_Mutation	SNP	T	TCGA-BR-4267-01A-01D-1126-08	2035087	41003482	18125501	88	11369											
ATP5SL	55101	broad.mit.edu	37	chr19	41938220	41938220	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcccagtcgactcccacaacCtcgcaattgggcagcatctc	8	17	1	0			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr19:41938220C>G	uc002oqw.1	-	6	696	c.690G>C	c.(688-690)GAG>GAC	p.E230D	CYP2F1_uc010xvw.1_Intron|ATP5SL_uc002oqu.1_RNA|ATP5SL_uc002oqv.2_Missense_Mutation_p.E236D|ATP5SL_uc010xwa.1_Missense_Mutation_p.R182T|ATP5SL_uc002oqx.1_Missense_Mutation_p.E203D|ATP5SL_uc002oqy.1_Missense_Mutation_p.R176T|ATP5SL_uc002oqz.1_Missense_Mutation_p.R149T	NM_018035	NP_060505	Q9NW81	AT5SL_HUMAN	ATP5S-like	230										large_intestine(1)|breast(1)	2						CTCCCACAACCTCGCAATTGG	0.627													G	41938220	C	G	41938220	3	3	13	1	0	0	0	0	1	0	0	0	1164	681	24	5	87	5	ATP5SL	19	41938220	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08	934738	41938220	17190763	89	11370											
SLC8A2	6543	broad.mit.edu	37	chr19	47969322	47969322	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccacgctggtctcaccGttggccttggtgatggtgat	14	11	1	2			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr19:47969322G>A	uc002pgx.2	-	2	617	c.339C>T	c.(337-339)AAC>AAT	p.N113N	SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Silent_p.N113N	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	113	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TGGTCTCACCGTTGGCCTTGG	0.577													A	47969322	G	A	47969322	2	1	13	1	0	0	0	0	0	0	0	1	14707	1136	40	1		1	SLC8A2	19	47969322	Silent	SNP	G	TCGA-BR-4267-01A-01D-1126-08	6031102	47969322	11159661	90	11371											
FCGRT	2217	broad.mit.edu	37	chr19	50017644	50017644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcagcggtggcagcagcagGacaaggcggccaacaaggag	17	10	1	0			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr19:50017644G>A	uc002poe.2	+	4	988	c.502G>A	c.(502-504)GAC>AAC	p.D168N	FCGRT_uc002pod.2_RNA|FCGRT_uc002pog.2_Missense_Mutation_p.D168N|FCGRT_uc002pof.1_Missense_Mutation_p.D73N|FCGRT_uc010yax.1_Missense_Mutation_p.D168N|FCGRT_uc002poh.1_Missense_Mutation_p.D28N	NM_001136019	NP_001129491	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	168	Extracellular (Potential).|Alpha-2.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		GCAGCAGCAGGACAAGGCGGC	0.652													A	50017644	G	A	50017644	3	1	13	1	0	0	0	0	1	0	0	0	5786	1174	41	4	512	4	FCGRT	19	50017644	Missense_Mutation	SNP	G	TCGA-BR-4267-01A-01D-1126-08	2048322	50017644	9111339	91	11372											
RRAS	6237	broad.mit.edu	37	chr19	50138991	50138991	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggaaggggacttggctcacCggacagcccgcaccagctgc	14	14	1	0			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr19:50138991C>G	uc002pop.1	-	5	617	c.572G>C	c.(571-573)CGG>CCG	p.R191P		NM_006270	NP_006261	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	191					axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		CTTGGCTCACCGGACAGCCCG	0.607													G	50138991	C	G	50138991	3	3	13	1	0	0	0	0	1	0	0	0	13676	666	23	5	92	5	RRAS	19	50138991	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08	121347	50138991	8989992	92	11373											
CLEC11A	6320	broad.mit.edu	37	chr19	51228703	51228703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagcggcgtctctactaCgtctgcgagttccccttcta	9	15	3	0			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr19:51228703C>T	uc002psy.2	+	4	1129	c.951C>T	c.(949-951)TAC>TAT	p.Y317Y		NM_002975	NP_002966	Q9Y240	CLC11_HUMAN	stem cell growth factor precursor	317	C-type lectin.				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			ovary(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GTCTCTACTACGTCTGCGAGT	0.701													T	51228703	C	T	51228703	2	4	13	1	0	0	0	0	0	0	0	1	3496	547	19	1		1	CLEC11A	19	51228703	Silent	SNP	C	TCGA-BR-4267-01A-01D-1126-08	1089712	51228703	7900280	93	11374											
C20orf43	51507	broad.mit.edu	37	chr20	55048432	55048432	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaatattaagacgaccaataGttgcctgtgaacttggcagg	10	7	0	2			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr20:55048432G>C	uc002xxt.2	+	2	252	c.145G>C	c.(145-147)GTT>CTT	p.V49L	C20orf43_uc010zzf.1_Missense_Mutation_p.V79L|C20orf43_uc002xxu.2_Missense_Mutation_p.V49L|C20orf43_uc002xxv.2_Missense_Mutation_p.V49L	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	hypothetical protein LOC51507	49										ovary(1)	1			Colorectal(105;0.202)			ACGACCAATAGTTGCCTGTGA	0.328													C	55048432	G	C	55048432	3	2	13	1	0	0	0	0	1	0	0	0	2112	1029	36	5	151	5	C20orf43	20	55048432	Missense_Mutation	SNP	G	TCGA-BR-4267-01A-01D-1126-08		55048432	7977088	94	11375											
CDH4	1002	broad.mit.edu	37	chr20	60503257	60503257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttccacagggataccccCggccagcggcaccgggaccc	12	18	0	0			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr20:60503257C>T	uc002ybn.1	+	12	1795	c.1781C>T	c.(1780-1782)CCG>CTG	p.P594L	CDH4_uc002ybp.1_Missense_Mutation_p.P520L	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	594	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGGATACCCCCGGCCAGCGGC	0.602													T	60503257	C	T	60503257	3	4	13	1	0	0	0	0	1	0	0	0	3112	652	23	1	1827	1	CDH4	20	60503257	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08	5454825	60503257	2522263	95	11376											
FAM3B	54097	broad.mit.edu	37	chr21	42710319	42710319	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacagctccagtccccaaaAggcaaaaatgtgaccactgg	8	12	0	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr21:42710319A>C	uc002yzb.1	+	3	324	c.178A>C	c.(178-180)AGG>CGG	p.R60R	FAM3B_uc002yza.2_RNA|FAM3B_uc002yzc.1_Silent_p.R12R|FAM3B_uc002yzd.1_Silent_p.R83R|FAM3B_uc011aeq.1_Silent_p.R74R	NM_058186	NP_478066	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	60					apoptosis|insulin secretion	extracellular space	cytokine activity				0		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				AGTCCCCAAAAGGCAAAAATG	0.478													C	42710319	A	C	42710319	2	2	13	1	0	0	0	0	0	0	0	1	5557	63	3	5		5	FAM3B	21	42710319	Silent	SNP	A	TCGA-BR-4267-01A-01D-1126-08		42710319	5419576	96	11377											
SLC7A4	6545	broad.mit.edu	37	chr22	21385414	21385414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggagaagccgaagggtgCaaagccgccttcgtcagcgc	15	13	1	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr22:21385414C>T	uc002zud.2	-	2	756	c.688G>A	c.(688-690)GCA>ACA	p.A230T	SLC7A4_uc002zue.2_Missense_Mutation_p.A230T	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	230	Helical; (Potential).				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCGAAGGGTGCAAAGCCGCCT	0.602													T	21385414	C	T	21385414	3	4	13	1	0	0	0	0	1	0	0	0	14699	710	25	2	1235	2	SLC7A4	22	21385414	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08		21385414	29919152	97	11378											
TLR7	51284	broad.mit.edu	37	chrX	12906522	12906522	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaagtatgcaaagactgaAaattttaagatagcatttta	7	4	0	3			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chrX:12906522A>C	uc004cvc.2	+	3	3034	c.2895A>C	c.(2893-2895)GAA>GAC	p.E965D		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	965	TIR.|Cytoplasmic (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)	CAAAGACTGAAAATTTTAAGA	0.398													C	12906522	A	C	12906522	3	2	13	1	0	0	0	0	1	0	0	0	15953	11	1	5	2901	5	TLR7	23	12906522	Missense_Mutation	SNP	A	TCGA-BR-4267-01A-01D-1126-08		12906522	142364038	98	11379											
GRIPAP1	56850	broad.mit.edu	37	chrX	48837686	48837686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcctgcagcttatctgccCgtttccgctccaaatgcagc	8	16	1	0			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chrX:48837686C>T	uc004dly.1	-	21	1906	c.1871G>A	c.(1870-1872)CGG>CAG	p.R624Q	GRIPAP1_uc004dlz.2_Missense_Mutation_p.R514Q|GRIPAP1_uc004dma.2_Missense_Mutation_p.R545Q	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	624	Potential.					early endosome				breast(2)|kidney(1)	3						CTTATCTGCCCGTTTCCGCTC	0.612													T	48837686	C	T	48837686	3	4	13	1	0	0	0	0	1	0	0	0	6789	652	23	1	732	1	GRIPAP1	23	48837686	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08	35931164	48837686	106432874	99	11380											
WDR45	11152	broad.mit.edu	37	chrX	48934155	48934155	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcggggaaggagtacacatAgatgcggttcttcagcacga	14	8	2	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chrX:48934155A>G	uc004dmk.1	-	6	542	c.370T>C	c.(370-372)TAT>CAT	p.Y124H	PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Intron|WDR45_uc004dmj.1_Missense_Mutation_p.Y74H|WDR45_uc004dml.1_Missense_Mutation_p.Y125H|WDR45_uc004dmm.1_Missense_Mutation_p.Y89H|WDR45_uc010nim.1_Missense_Mutation_p.Y124H|WDR45_uc004dmn.1_Missense_Mutation_p.Y15H|WDR45_uc004dmo.1_Missense_Mutation_p.Y147H|WDR45_uc004dmp.1_Missense_Mutation_p.Y125H	NM_001029896	NP_001025067	Q9Y484	WIPI4_HUMAN	WD repeat domain 45 isoform 2	124					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			ovary(1)	1						GAGTACACATAGATGCGGTTC	0.562													G	48934155	A	G	48934155	3	3	13	1	0	0	0	0	1	0	0	0	17294	420	15	3	736	3	WDR45	23	48934155	Missense_Mutation	SNP	A	TCGA-BR-4267-01A-01D-1126-08	96469	48934155	106336405	100	11381											
AKAP4	8852	broad.mit.edu	37	chrX	49957932	49957932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgatttcattttgcctttgtCcctctctttcatttcagctt	4	11	4	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chrX:49957932C>T	uc004dow.1	-	5	1556	c.1432G>A	c.(1432-1434)GAC>AAC	p.D478N	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.D300N|AKAP4_uc004dou.1_Missense_Mutation_p.D469N	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	478					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					TTGCCTTTGTCCCTCTCTTTC	0.438													T	49957932	C	T	49957932	3	4	13	1	0	0	0	0	1	0	0	0	453	855	30	4	1140	4	AKAP4	23	49957932	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08	1023777	49957932	105312628	101	11382											
ELF4	2000	broad.mit.edu	37	chrX	129208703	129208703	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tacctgctccacgatcacagCtgggaacacagaggggtctt	11	12	2	1			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chrX:129208703C>G	uc004evd.3	-	3	485	c.100G>C	c.(100-102)GCT>CCT	p.A34P	ELF4_uc004eve.3_Missense_Mutation_p.A34P	NM_001421	NP_001412	Q99607	ELF4_HUMAN	E74-like factor 4	34					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						ACGATCACAGCTGGGAACACA	0.537			T	ERG	AML								G	129208703	C	G	129208703	3	3	13	1	0	0	0	0	1	0	0	0	5056	797	28	5	1919	5	ELF4	23	129208703	Missense_Mutation	SNP	C	TCGA-BR-4267-01A-01D-1126-08	79250771	129208703	26061857	102	11383											
GABRE	2564	broad.mit.edu	37	chrX	151123349	151123349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttaaaacgcttgcaccActcacagcaggccagcttgg	8	14	2	0			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chrX:151123349A>G	uc004ffi.2	-	9	1399	c.1345T>C	c.(1345-1347)TGG>CGG	p.W449R	GABRE_uc011myd.1_RNA	NM_004961	NP_004952	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor,	449	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					CGCTTGCACCACTCACAGCAG	0.617													G	151123349	A	G	151123349	3	3	13	1	0	0	0	0	1	0	0	0	6170	159	6	3	179	3	GABRE	23	151123349	Missense_Mutation	SNP	A	TCGA-BR-4267-01A-01D-1126-08	21914646	151123349	4147211	103	11384											
PDPN	10630	broad.mit.edu	37	chr1	13940872	13940872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcattggtgcaatcatcGttgtggttatgcgaaaaatg	11	6	2	0			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr1:13940872G>A	uc001avd.2	+	5	725	c.676G>A	c.(676-678)GTT>ATT	p.V226I	PDPN_uc001avc.2_Missense_Mutation_p.V226I|PDPN_uc009vob.2_Missense_Mutation_p.V108I|PDPN_uc009voc.2_Missense_Mutation_p.V108I|PDPN_uc001ave.2_Missense_Mutation_p.V108I|PDPN_uc001avf.2_Missense_Mutation_p.V108I	NM_006474	NP_006465	Q86YL7	PDPN_HUMAN	lung type-I cell membrane-associated	150	Helical; (Potential).				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				ovary(2)	2	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		TGCAATCATCGTTGTGGTTAT	0.423													A	13940872	G	A	13940872	3	1	14	1	0	0	0	0	1	0	0	0	11688	1145	40	1	694	1	PDPN	1	13940872	Missense_Mutation	SNP	G	TCGA-BR-4279-01A-01D-1126-08		13940872	235309749	1	11385											
LEPRE1	64175	broad.mit.edu	37	chr1	43228097	43228097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccatgtgctcaggattgCccacgaagaaggtgtgtgct	12	9	1	1			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr1:43228097C>T	uc001chv.2	-	2	628	c.515G>A	c.(514-516)GGC>GAC	p.G172D	LEPRE1_uc001chw.2_Missense_Mutation_p.G172D|LEPRE1_uc001chx.3_Missense_Mutation_p.G172D|LEPRE1_uc001chy.3_Missense_Mutation_p.G172D	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	172	TPR 2.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTCAGGATTGCCCACGAAGAA	0.468													T	43228097	C	T	43228097	3	4	14	1	0	0	0	0	1	0	0	0	8729	739	26	2	1770	2	LEPRE1	1	43228097	Missense_Mutation	SNP	C	TCGA-BR-4279-01A-01D-1126-08	29287225	43228097	206022524	2	11386											
BEST4	266675	broad.mit.edu	37	chr1	45250412	45250412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtactggtccttctcagcgGggggaaggttctggtacatt	14	8	2	0			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr1:45250412G>A	uc001cmm.2	-	8	1086	c.1037C>T	c.(1036-1038)CCC>CTC	p.P346L		NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN	bestrophin 4	346	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CTTCTCAGCGGGGGGAAGGTT	0.637													A	45250412	G	A	45250412	3	1	14	1	0	0	0	0	1	0	0	0	1407	1232	43	4	392	4	BEST4	1	45250412	Missense_Mutation	SNP	G	TCGA-BR-4279-01A-01D-1126-08	2022315	45250412	204000209	3	11387											
ASH1L	55870	broad.mit.edu	37	chr1	155451843	155451844	+	Frame_Shift_Ins	INS	-	-	T													tgctgtgctgatggttggctINStttttattaagtccttatgt							TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr1:155451842_155451843C>CT	uc009wqq.3	-	2	1298_1299	c.818_819G>AG	c.(817-819)aagfs	p.K273fs	ASH1L_uc001fkt.3_Frame_Shift_Ins_p.K273fs|ASH1L_uc009wqr.1_Frame_Shift_Ins_p.K273fs	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	273					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGATGGTTGGCTTTTTTATTAA	0.416													T	155451844	-	T	155451843	7	5	14	1	0	1	1	0	0	0	0	0	1041	1609	56	0	8180	0	ASH1L	1	155451843	Frame_Shift_Ins	INS	-	TCGA-BR-4279-01A-01D-1126-08	110201431	155451843	93798778	4	11388											
USH2A	7399	broad.mit.edu	37	chr1	216348749	216348749	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagagggtccattcagttctTcaggtggaaaccacctaaga	11	9	3	2			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr1:216348749T>A	uc001hku.1	-	21	4859	c.4472A>T	c.(4471-4473)GAA>GTA	p.E1491V	USH2A_uc001hkv.2_Missense_Mutation_p.E1491V	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1491	Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTCAGTTCTTCAGGTGGAAA	0.438										HNSCC(13;0.011)			A	216348749	T	A	216348749	3	1	14	1	0	0	0	0	1	0	0	0	17033	1783	62	5	11358	5	USH2A	1	216348749	Missense_Mutation	SNP	T	TCGA-BR-4279-01A-01D-1126-08	60896906	216348749	32901872	5	11389											
B3GNT7	93010	broad.mit.edu	37	chr2	232263406	232263406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctggagctctacccgatcGacgacgtctttctgggcatg	11	14	3	0			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr2:232263406G>A	uc002vrs.2	+	2	1156	c.976G>A	c.(976-978)GAC>AAC	p.D326N		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal	326	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CTACCCGATCGACGACGTCTT	0.677													A	232263406	G	A	232263406	3	1	14	1	0	0	0	0	1	0	0	0	1262	1058	37	1	982	1	B3GNT7	2	232263406	Missense_Mutation	SNP	G	TCGA-BR-4279-01A-01D-1126-08		232263406	10935967	6	11390											
COL7A1	1294	broad.mit.edu	37	chr3	48621022	48621022	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccaggttgtcctgggagGcctggagctccatcctcaga	13	13	1	1			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr3:48621022G>A	uc003ctz.2	-	40	4369	c.4368C>T	c.(4366-4368)GGC>GGT	p.G1456G		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1456	Triple-helical region.|Interrupted collagenous region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTCCTGGGAGGCCTGGAGCTC	0.627													A	48621022	G	A	48621022	2	1	14	1	0	0	0	0	0	0	0	1	3704	1190	42	2		2	COL7A1	3	48621022	Silent	SNP	G	TCGA-BR-4279-01A-01D-1126-08		48621022	149401408	7	11391											
SEMA5B	54437	broad.mit.edu	37	chr3	122680090	122680090	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggtgggcaacaggagaCggactgaagccacagggcat	17	8	0	2			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr3:122680090C>T	uc003efz.1	-	2	325	c.21G>A	c.(19-21)CCG>CCA	p.P7P	SEMA5B_uc011bju.1_Intron|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.P7P|SEMA5B_uc010hro.1_Intron|SEMA5B_uc010hrp.1_Intron	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	7	Extracellular (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		CAACAGGAGACGGACTGAAGC	0.577													T	122680090	C	T	122680090	2	4	14	1	0	0	0	0	0	0	0	1	14038	523	19	1		1	SEMA5B	3	122680090	Silent	SNP	C	TCGA-BR-4279-01A-01D-1126-08	74059068	122680090	75342340	8	11392											
ZBTB38	253461	broad.mit.edu	37	chr3	141161551	141161551	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggaaacagtcactgatctCgcagctgcaggaaaaaagct	10	10	2	1			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr3:141161551C>T	uc003etw.2	+	8	1303	c.321C>T	c.(319-321)CTC>CTT	p.L107L	ZBTB38_uc010hun.2_Silent_p.L104L|ZBTB38_uc010huo.2_Silent_p.L107L|ZBTB38_uc003ety.2_Silent_p.L107L|ZBTB38_uc010hup.2_Silent_p.L108L	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	107					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						TCACTGATCTCGCAGCTGCAG	0.423													T	141161551	C	T	141161551	2	4	14	1	0	0	0	0	0	0	0	1	17536	871	31	1		1	ZBTB38	3	141161551	Silent	SNP	C	TCGA-BR-4279-01A-01D-1126-08	18481461	141161551	56860879	9	11393											
DCHS2	54798	broad.mit.edu	37	chr4	155250824	155250824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcatctcatggtgcccccGgtgctcacgatccagtgcca	10	15	3	0			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr4:155250824G>A	uc003inw.2	-	11	2404	c.2404C>T	c.(2404-2406)CGG>TGG	p.R802W	DCHS2_uc003inx.2_Missense_Mutation_p.R1257W	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	802	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGTGCCCCCGGTGCTCACGA	0.552													A	155250824	G	A	155250824	3	1	14	1	0	0	0	0	1	0	0	0	4288	1115	39	1	6502	1	DCHS2	4	155250824	Missense_Mutation	SNP	G	TCGA-BR-4279-01A-01D-1126-08		155250824	35903452	10	11394											
RXFP1	59350	broad.mit.edu	37	chr4	159560437	159560437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagaagggattgaaatttcaAatatccaacaaaggatgttt	8	4	1	2			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr4:159560437A>G	uc003ipz.2	+	14	1151	c.1069A>G	c.(1069-1071)AAT>GAT	p.N357D	RXFP1_uc010iqj.1_Missense_Mutation_p.N186D|RXFP1_uc011cja.1_Missense_Mutation_p.N252D|RXFP1_uc010iqo.2_Missense_Mutation_p.N309D|RXFP1_uc011cjb.1_Missense_Mutation_p.N255D|RXFP1_uc010iqk.2_Missense_Mutation_p.N225D|RXFP1_uc011cjc.1_Missense_Mutation_p.N276D|RXFP1_uc011cjd.1_Missense_Mutation_p.N276D|RXFP1_uc010iql.2_Missense_Mutation_p.N201D|RXFP1_uc011cje.1_Missense_Mutation_p.N384D|RXFP1_uc010iqm.2_Missense_Mutation_p.N324D|RXFP1_uc011cjf.1_Missense_Mutation_p.N226D|RXFP1_uc010iqn.2_Missense_Mutation_p.N302D	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	357	Extracellular (Potential).|LRR 9.					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TGAAATTTCAAATATCCAACA	0.284													G	159560437	A	G	159560437	3	3	14	1	0	0	0	0	1	0	0	0	13759	14	1	3	1123	3	RXFP1	4	159560437	Missense_Mutation	SNP	A	TCGA-BR-4279-01A-01D-1126-08	4309613	159560437	31593839	11	11395											
BDP1	55814	broad.mit.edu	37	chr5	70759924	70759924	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaaaactgaaaagccatcGactccagtccagacaagaga	8	10	0	4			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr5:70759924G>A	uc003kbp.1	+	4	902	c.639G>A	c.(637-639)TCG>TCA	p.S213S	BDP1_uc003kbn.1_Silent_p.S213S|BDP1_uc003kbo.2_Silent_p.S213S	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	213	Interaction with ZBTB43.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAAAGCCATCGACTCCAGTCC	0.264													A	70759924	G	A	70759924	2	1	14	1	0	0	0	0	0	0	0	1	1395	1045	37	1		1	BDP1	5	70759924	Silent	SNP	G	TCGA-BR-4279-01A-01D-1126-08		70759924	110155336	12	11396											
ACOT12	134526	broad.mit.edu	37	chr5	80631636	80631636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtaaagtcagacaagagacGataagccaaatgtgctggac	11	7	1	2			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr5:80631636G>A	uc003khl.3	-	12	1268	c.1213C>T	c.(1213-1215)CGT>TGT	p.R405C	RNU5E_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	405	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(1)|kidney(1)	2		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GACAAGAGACGATAAGCCAAA	0.348													A	80631636	G	A	80631636	3	1	14	1	0	0	0	0	1	0	0	0	150	1058	37	1	470	1	ACOT12	5	80631636	Missense_Mutation	SNP	G	TCGA-BR-4279-01A-01D-1126-08	9871712	80631636	100283624	13	11397											
HSD17B4	3295	broad.mit.edu	37	chr5	118861675	118861675	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgccaggcgtgtgttacAgcagtttgcagataatgatg	12	7	1	2			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr5:118861675A>G	uc003ksj.2	+	19	1760	c.1637A>G	c.(1636-1638)CAG>CGG	p.Q546R	HSD17B4_uc011cwg.1_Missense_Mutation_p.Q522R|HSD17B4_uc011cwh.1_Missense_Mutation_p.Q528R|HSD17B4_uc011cwi.1_Missense_Mutation_p.Q571R|HSD17B4_uc003ksk.3_Missense_Mutation_p.Q399R|HSD17B4_uc011cwj.1_Missense_Mutation_p.Q399R|HSD17B4_uc010jcn.1_Missense_Mutation_p.Q284R|HSD17B4_uc010jco.1_Missense_Mutation_p.S15G	NM_000414	NP_000405	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	546	MaoC-like.|Enoyl-CoA hydratase 2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			ovary(1)|pancreas(1)	2		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	CGTGTGTTACAGCAGTTTGCA	0.348													G	118861675	A	G	118861675	3	3	14	1	0	0	0	0	1	0	0	0	7386	188	7	3	1711	3	HSD17B4	5	118861675	Missense_Mutation	SNP	A	TCGA-BR-4279-01A-01D-1126-08	38230039	118861675	62053585	14	11398											
PCDHGA7	56108	broad.mit.edu	37	chr5	140764604	140764604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgtcctcgtactgctggCgctcaggctgcggcgctggc	14	15	1	0			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr5:140764604C>T	uc003lka.1	+	1	2138	c.2138C>T	c.(2137-2139)GCG>GTG	p.A713V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGB4_uc003lkc.1_5'Flank|PCDHGA7_uc003ljz.1_Missense_Mutation_p.A713V|PCDHGB4_uc011dav.1_5'Flank	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	713	Helical; (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)			GTACTGCTGGCGCTCAGGCTG	0.632													T	140764604	C	T	140764604	3	4	14	1	0	0	0	0	1	0	0	0	11559	768	27	1	2140	1	PCDHGA7	5	140764604	Missense_Mutation	SNP	C	TCGA-BR-4279-01A-01D-1126-08	21902929	140764604	40150656	15	11399											
HSPA1L	3305	broad.mit.edu	37	chr6	31779057	31779057	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgtcaaagtcctccccAcccaggtgagtgtccccagc	9	16	1	1			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr6:31779057A>G	uc003nxh.2	-	2	876	c.693T>C	c.(691-693)GGT>GGC	p.G231G	HSPA1L_uc010jte.2_Silent_p.G231G	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	231					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						AGTCCTCCCCACCCAGGTGAG	0.507													G	31779057	A	G	31779057	2	3	14	1	0	0	0	0	0	0	0	1	7410	146	6	3		3	HSPA1L	6	31779057	Silent	SNP	A	TCGA-BR-4279-01A-01D-1126-08		31779057	139336010	16	11400											
KIFC1	3833	broad.mit.edu	37	chr6	33372771	33372771	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaatggagcgccggcgacTgcacaaccagctgcaggaac	13	12	0	1			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr6:33372771T>G	uc003oef.3	+	7	1349	c.899T>G	c.(898-900)CTG>CGG	p.L300R	KIFC1_uc011drf.1_Missense_Mutation_p.L292R	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	300	Potential.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0						CGCCGGCGACTGCACAACCAG	0.642													G	33372771	T	G	33372771	3	3	14	1	0	0	0	0	1	0	0	0	8312	1580	55	5	925	5	KIFC1	6	33372771	Missense_Mutation	SNP	T	TCGA-BR-4279-01A-01D-1126-08	1593714	33372771	137742296	17	11401											
RIMS1	22999	broad.mit.edu	37	chr6	73102406	73102406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttttgctgatagtttaatAtttcctggagtgcgactggg	11	7	0	1			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr6:73102406A>G	uc003pga.2	+	31	4589	c.4512A>G	c.(4510-4512)ATA>ATG	p.I1504M	RIMS1_uc011dyb.1_Missense_Mutation_p.I901M|RIMS1_uc003pgc.2_Missense_Mutation_p.I953M|RIMS1_uc010kaq.2_Missense_Mutation_p.I824M|RIMS1_uc011dyc.1_Missense_Mutation_p.I629M|RIMS1_uc010kar.2_Missense_Mutation_p.I572M|RIMS1_uc011dyd.1_Missense_Mutation_p.I638M|RIMS1_uc003pgf.2_Missense_Mutation_p.I504M|RIMS1_uc003pgg.2_Missense_Mutation_p.I400M|RIMS1_uc003pgi.2_Missense_Mutation_p.I320M|RIMS1_uc003pgh.2_Missense_Mutation_p.I371M|RIMS1_uc003pgd.2_Missense_Mutation_p.I570M|RIMS1_uc003pge.2_Missense_Mutation_p.I544M|RIMS1_uc011dye.1_Missense_Mutation_p.I310M|RIMS1_uc011dyf.1_Missense_Mutation_p.I128M|RIMS1_uc011dyg.1_Missense_Mutation_p.I31M	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1504					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATAGTTTAATATTTCCTGGAG	0.418													G	73102406	A	G	73102406	3	3	14	1	0	0	0	0	1	0	0	0	13367	439	16	3	4797	3	RIMS1	6	73102406	Missense_Mutation	SNP	A	TCGA-BR-4279-01A-01D-1126-08	39729635	73102406	98012661	18	11402											
SYNE1	23345	broad.mit.edu	37	chr6	152631075	152631075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctggcaaccacatcctcGgggatccggagggcactctg	13	13	1	0			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr6:152631075G>A	uc010kiw.2	-	90	17699	c.17097C>T	c.(17095-17097)CCC>CCT	p.P5699P	SYNE1_uc010kiv.2_Silent_p.P223P|SYNE1_uc003qos.3_Silent_p.P223P|SYNE1_uc003qot.3_Silent_p.P5628P|SYNE1_uc003qou.3_Silent_p.P5699P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5699	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)		CCACATCCTCGGGGATCCGGA	0.557										HNSCC(10;0.0054)			A	152631075	G	A	152631075	2	1	14	1	0	0	0	0	0	0	0	1	15442	1103	39	1		1	SYNE1	6	152631075	Silent	SNP	G	TCGA-BR-4279-01A-01D-1126-08	79528669	152631075	18483992	19	11403											
LPA	4018	broad.mit.edu	37	chr6	161015130	161015130	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtagcaatcctggaccccGgggctttgctccgttggtgc	14	12	0	0			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr6:161015130G>A	uc003qtl.2	-	23	3609	c.3489C>T	c.(3487-3489)CCC>CCT	p.P1163P		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3671	Kringle 33.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CCTGGACCCCGGGGCTTTGCT	0.468													A	161015130	G	A	161015130	2	1	14	1	0	0	0	0	0	0	0	1	8903	1103	39	1		1	LPA	6	161015130	Silent	SNP	G	TCGA-BR-4279-01A-01D-1126-08	8384055	161015130	10099937	20	11404											
C8orf58	541565	broad.mit.edu	37	chr8	22458519	22458519	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgacaagttcagaggtgtCggcagggaggcactctttct	15	8	3	2	rs138371466		TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr8:22458519C>T	uc003xce.2	+	2	277	c.165C>T	c.(163-165)GTC>GTT	p.V55V	C8orf58_uc011kzl.1_Silent_p.V55V|C8orf58_uc003xcf.2_Silent_p.V55V	NM_001013842	NP_001013864	Q8NAV2	CH058_HUMAN	hypothetical protein LOC541565	55										skin(1)	1		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TCAGAGGTGTCGGCAGGGAGG	0.637													T	22458519	C	T	22458519	2	4	14	1	0	0	0	0	0	0	0	1	2433	871	31	1		1	C8orf58	8	22458519	Silent	SNP	C	TCGA-BR-4279-01A-01D-1126-08		22458519	123905503	21	11405											
ENTPD4	9583	broad.mit.edu	37	chr8	23305223	23305223	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatgaccactggctttcGgtttttatccctcatttgcc	6	13	2	1			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr8:23305223G>A	uc003xdl.2	-	4	546	c.382C>T	c.(382-384)CGA>TGA	p.R128*	ENTPD4_uc011kzu.1_Nonsense_Mutation_p.R128*|ENTPD4_uc003xdm.2_Nonsense_Mutation_p.R128*|ENTPD4_uc011kzv.1_Nonsense_Mutation_p.R128*|ENTPD4_uc011kzw.1_Nonsense_Mutation_p.R94*	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	128	Lumenal (Potential).				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			ovary(1)|kidney(1)	2		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		ACTGGCTTTCGGTTTTTATCC	0.453													A	23305223	G	A	23305223	4	1	14	1	0	0	0	0	0	1	0	0	5141	1124	39	1	1508	1	ENTPD4	8	23305223	Nonsense_Mutation	SNP	G	TCGA-BR-4279-01A-01D-1126-08	846704	23305223	123058799	22	11406											
KIF13B	23303	broad.mit.edu	37	chr8	28999695	28999695	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggttatcttcttcacactcTttccactcctgataaaggtc	6	12	4	1			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr8:28999695T>C	uc003xhh.3	-	19	2372	c.2313A>G	c.(2311-2313)AAA>AAG	p.K771K		NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	771	Potential.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CTTCACACTCTTTCCACTCCT	0.403													C	28999695	T	C	28999695	2	2	14	1	0	0	0	0	0	0	0	1	8275	1606	56	3		3	KIF13B	8	28999695	Silent	SNP	T	TCGA-BR-4279-01A-01D-1126-08	5694472	28999695	117364327	23	11407											
AP3M2	10947	broad.mit.edu	37	chr8	42012282	42012282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggaaaagtgtggtcagccGttctgtttgtgattactttt	11	5	2	1			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr8:42012282G>A	uc003xop.2	+	3	368	c.77G>A	c.(76-78)CGT>CAT	p.R26H	AP3M2_uc003xoo.2_Missense_Mutation_p.R26H|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_5'UTR|AP3M2_uc003xor.1_Missense_Mutation_p.R26H	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	26					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GTGGTCAGCCGTTCTGTTTGT	0.453													A	42012282	G	A	42012282	3	1	14	1	0	0	0	0	1	0	0	0	748	1145	40	1	79	1	AP3M2	8	42012282	Missense_Mutation	SNP	G	TCGA-BR-4279-01A-01D-1126-08	13012587	42012282	104351740	24	11408											
TOP1MT	116447	broad.mit.edu	37	chr8	144400005	144400005	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtgcttgttcaggctggtCgtctggggaggaaaatggtc	17	6	2	0			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr8:144400005C>T	uc003yxz.2	-	10	1237	c.1218G>A	c.(1216-1218)ACG>ACA	p.T406T	TOP1MT_uc011lkd.1_Silent_p.T308T|TOP1MT_uc011lke.1_Silent_p.T308T|TOP1MT_uc010mfb.2_Silent_p.T308T|TOP1MT_uc011lkf.1_Silent_p.T201T	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	406					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TCAGGCTGGTCGTCTGGGGAG	0.602													T	144400005	C	T	144400005	2	4	14	1	0	0	0	0	0	0	0	1	16361	871	31	1		1	TOP1MT	8	144400005	Silent	SNP	C	TCGA-BR-4279-01A-01D-1126-08	102387723	144400005	1964017	25	11409											
AK3	50808	broad.mit.edu	37	chr9	4712977	4712977	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tagttacacacatttctcctCatggagtaactgaagctttc	6	10	2	1			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr9:4712977C>G	uc003ziq.1	-	5	823	c.683G>C	c.(682-684)TGA>TCA	p.*228S	AK3_uc003zip.1_RNA|AK3_uc011lma.1_Nonstop_Mutation_p.*188S|AK3_uc003zir.1_Nonstop_Mutation_p.*158S	NM_016282	NP_057366	Q9UIJ7	KAD3_HUMAN	adenylate kinase 3	228					blood coagulation	mitochondrial matrix	ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity			ovary(2)	2	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)		CATTTCTCCTCATGGAGTAAC	0.383													G	4712977	C	G	4712977	4	3	14	1	0	0	0	0	0	0	0	0	441	837	29	5	4	5	AK3	9	4712977	Nonstop_Mutation	SNP	C	TCGA-BR-4279-01A-01D-1126-08		4712977	136500454	26	11410											
CER1	9350	broad.mit.edu	37	chr9	14720137	14720137	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgggagccagcatgtaggAtgtgtccatcttcatgctcc	11	12	2	0			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr9:14720137A>G	uc003zlj.2	-	2	800	c.755T>C	c.(754-756)ATC>ACC	p.I252T		NM_005454	NP_005445	O95813	CER1_HUMAN	cerberus 1 precursor	252					BMP signaling pathway	extracellular space	cytokine activity				0				GBM - Glioblastoma multiforme(50;3.16e-06)		AGCATGTAGGATGTGTCCATC	0.488													G	14720137	A	G	14720137	3	3	14	1	0	0	0	0	1	0	0	0	3265	333	12	3	52	3	CER1	9	14720137	Missense_Mutation	SNP	A	TCGA-BR-4279-01A-01D-1126-08	10007160	14720137	126493294	27	11411											
SPTAN1	6709	broad.mit.edu	37	chr9	131339474	131339474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcctctgatgattttggCcgagacctggcaagtgttca	12	9	2	3			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr9:131339474C>T	uc004bvl.3	+	7	965	c.852C>T	c.(850-852)GGC>GGT	p.G284G	SPTAN1_uc011mbg.1_Silent_p.G284G|SPTAN1_uc011mbh.1_Silent_p.G296G|SPTAN1_uc004bvm.3_Silent_p.G284G|SPTAN1_uc004bvn.3_Silent_p.G284G	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	284	Spectrin 4.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						ATGATTTTGGCCGAGACCTGG	0.483													T	131339474	C	T	131339474	2	4	14	1	0	0	0	0	0	0	0	1	15116	726	26	2		2	SPTAN1	9	131339474	Silent	SNP	C	TCGA-BR-4279-01A-01D-1126-08	116619337	131339474	9873957	28	11412											
FAS	355	broad.mit.edu	37	chr10	90774152	90774152	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gactatcatcctcaaggacaTtactagtgactcagaaaatt	6	9	3	2			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr10:90774152T>A	uc001kfr.2	+	9	1299	c.953T>A	c.(952-954)ATT>AAT	p.I318N	FAS_uc010qna.1_RNA|FAS_uc001kfs.2_3'UTR|FAS_uc001kft.2_Missense_Mutation_p.I297N|FAS_uc010qnb.1_RNA|FAS_uc010qnc.1_RNA|FAS_uc001kfw.2_3'UTR|FAS_uc010qnd.1_RNA|FAS_uc010qne.1_RNA|FAS_uc009xtp.2_RNA	NM_000043	NP_000034	P25445	TNR6_HUMAN	tumor necrosis factor receptor superfamily,	318	Cytoplasmic (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			upper_aerodigestive_tract(1)|breast(1)	2		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		CTCAAGGACATTACTAGTGAC	0.338									Autoimmune_Lymphoproliferative_syndrome_type_I				A	90774152	T	A	90774152	3	1	14	1	0	0	0	0	1	0	0	0	5681	1493	52	5	987	5	FAS	10	90774152	Missense_Mutation	SNP	T	TCGA-BR-4279-01A-01D-1126-08		90774152	44760595	29	11413											
INPPL1	3636	broad.mit.edu	37	chr11	71948209	71948209	+	Frame_Shift_Del	DEL	C	C	-													tgaaccagaaggggtggcggCccccccacccaagaacagct							TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr11:71948208_71948208GC>G	uc001osf.3	+	25	3067	c.2920_2920GC>G	c.(2920-2922)gccfs	p.A974fs	INPPL1_uc001osg.3_Frame_Shift_Del_p.A732fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	974	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding	p.P977fs*7(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGGGGTGGCGGCCCCCCCACC	0.632													-	71948209	C	-	71948209	7	5	14	1	0	1	0	1	0	0	0	0	7761	739	26	0	3023	0	INPPL1	11	71948209	Frame_Shift_Del	DEL	C	TCGA-BR-4279-01A-01D-1126-08		71948209	63058307	30	11414											
LRRK2	120892	broad.mit.edu	37	chr12	40740652	40740652	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctatgacattttgacaacTggaggtagaatagtagaggg	12	5	1	4			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr12:40740652T>G	uc001rmg.3	+	42	6328	c.6207T>G	c.(6205-6207)ACT>ACG	p.T2069T	LRRK2_uc009zjw.2_Silent_p.T907T|LRRK2_uc001rmi.2_Silent_p.T902T	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2069	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTTGACAACTGGAGGTAGAA	0.363													G	40740652	T	G	40740652	2	3	14	1	0	0	0	0	0	0	0	1	9033	1567	55	5		5	LRRK2	12	40740652	Silent	SNP	T	TCGA-BR-4279-01A-01D-1126-08		40740652	93111243	31	11415											
MON2	23041	broad.mit.edu	37	chr12	62954432	62954433	+	Frame_Shift_Del	DEL	GT	GT	-													agcctgagacaccacctgtaGttaatgtacctgtgcctgtt							TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr12:62954431_62954432AGT>A	uc001sre.3	+	25	3961_3962	c.3570_3571AGT>A	c.(3568-3573)gtagttfs	p.V1190fs	MON2_uc010ssn.2_Frame_Shift_Del_p.V1190fs|MON2_uc009zqj.3_Frame_Shift_Del_p.V1190fs|MON2_uc010ssl.2_Frame_Shift_Del_p.V1118fs|MON2_uc010ssm.2_Frame_Shift_Del_p.V1167fs|MON2_uc001srf.3_Frame_Shift_Del_p.V953fs|MON2_uc001srg.3_Frame_Shift_Del_p.V65fs	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	1191					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CACCACCTGTAGTTAATGTACC	0.426													-	62954433	GT	-	62954432	7	5	14	1	0	1	0	1	0	0	0	0	9700	1029	36	0	3673	0	MON2	12	62954432	Frame_Shift_Del	DEL	GT	TCGA-BR-4279-01A-01D-1126-08	22213780	62954432	70897463	32	11416											
NEDD1	121441	broad.mit.edu	37	chr12	97345236	97345236	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgccatagggacattgtgaAtttgcaagtggagatgatta	12	4	0	3			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr12:97345236A>T	uc001teu.3	+	15	2177	c.1838A>T	c.(1837-1839)AAT>ATT	p.N613I	NEDD1_uc001tev.3_Missense_Mutation_p.N613I|NEDD1_uc010svc.1_Missense_Mutation_p.N524I|NEDD1_uc001tew.2_Missense_Mutation_p.N620I|NEDD1_uc001tex.2_Missense_Mutation_p.N524I	NM_152905	NP_690869	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally	613					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol					0						GACATTGTGAATTTGCAAGTG	0.289													T	97345236	A	T	97345236	3	4	14	1	0	0	0	0	1	0	0	0	10309	101	4	5	1913	5	NEDD1	12	97345236	Missense_Mutation	SNP	A	TCGA-BR-4279-01A-01D-1126-08	34390804	97345236	36506659	33	11417											
SLC5A8	160728	broad.mit.edu	37	chr12	101603454	101603454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctagcggtgagggacagcGccacgggcactgcggtcatt	16	11	1	1			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr12:101603454G>A	uc001thz.3	-	1	563	c.173C>T	c.(172-174)GCG>GTG	p.A58V		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	58	Helical; (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						GAGGGACAGCGCCACGGGCAC	0.632													A	101603454	G	A	101603454	3	1	14	1	0	0	0	0	1	0	0	0	14671	1087	38	1	1719	1	SLC5A8	12	101603454	Missense_Mutation	SNP	G	TCGA-BR-4279-01A-01D-1126-08	4258218	101603454	32248441	34	11418											
CCDC60	160777	broad.mit.edu	37	chr12	119954427	119954427	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gacctctcatattctcatcaGatctgcagaagctcctggag	8	12	4	2			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr12:119954427G>T	uc001txe.2	+	8	1349	c.884_splice	c.e8-1	p.N295_splice	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60											ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ATTCTCATCAGATCTGCAGAA	0.537													T	119954427	G	T	119954427	5	4	14	1	0	0	0	0	0	0	1	0	2831	956	33	5	913	5	CCDC60	12	119954427	Splice_Site	SNP	G	TCGA-BR-4279-01A-01D-1126-08	18350973	119954427	13897468	35	11419											
TMEM132B	114795	broad.mit.edu	37	chr12	126137113	126137113	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctccctgcagccacacCgagcagacaaaagggccatc	8	17	1	1			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr12:126137113C>T	uc001uhe.1	+	8	2034	c.2026C>T	c.(2026-2028)CGA>TGA	p.R676*	TMEM132B_uc001uhf.1_Nonsense_Mutation_p.R188*	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	676	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCAGCCACACCGAGCAGACAA	0.612													T	126137113	C	T	126137113	4	4	14	1	0	0	0	0	0	1	0	0	16043	644	23	1	2056	1	TMEM132B	12	126137113	Nonsense_Mutation	SNP	C	TCGA-BR-4279-01A-01D-1126-08	6182686	126137113	7714782	36	11420											
ANKRD10	55608	broad.mit.edu	37	chr13	111532325	111532325	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctaatccactgctaattcCgttagttcctgtcaagcact	7	12	1	0			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr13:111532325C>G	uc001vrn.2	-	6	1057	c.922G>C	c.(922-924)GGA>CGA	p.G308R	ANKRD10_uc001vrm.2_Missense_Mutation_p.G45R|ANKRD10_uc001vrl.2_RNA	NM_017664	NP_060134	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	308										central_nervous_system(1)	1	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			CTGCTAATTCCGTTAGTTCCT	0.532													G	111532325	C	G	111532325	3	3	14	1	0	0	0	0	1	0	0	0	638	661	23	5	344	5	ANKRD10	13	111532325	Missense_Mutation	SNP	C	TCGA-BR-4279-01A-01D-1126-08		111532325	3637553	37	11421											
OR4K17	390436	broad.mit.edu	37	chr14	20586246	20586246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagacatatattttgtacaGgtagtcattgttgccaacag	8	6	1	1			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr14:20586246G>A	uc001vwo.1	+	1	681	c.681G>A	c.(679-681)CAG>CAA	p.Q227Q		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K,	199	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATTTTGTACAGGTAGTCATTG	0.413													A	20586246	G	A	20586246	2	1	14	1	0	0	0	0	0	0	0	1	11071	991	35	4		4	OR4K17	14	20586246	Silent	SNP	G	TCGA-BR-4279-01A-01D-1126-08		20586246	86763294	38	11422											
BRMS1L	84312	broad.mit.edu	37	chr14	36302313	36302313	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcgtacaaaggtagcaggTaggaaagtgaagaatctttt	11	4	1	2			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr14:36302313T>C	uc001wtl.2	+	3	487	c.361_splice	c.e3+2	p.G121_splice	BRMS1L_uc010tpx.1_Splice_Site_p.G73_splice	NM_032352	NP_115728	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like						regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				skin(1)	1	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		AGGTAGCAGGTAGGAAAGTGA	0.358													C	36302313	T	C	36302313	5	2	14	1	0	0	0	0	0	0	1	0	1517	1652	57	3	373	3	BRMS1L	14	36302313	Splice_Site	SNP	T	TCGA-BR-4279-01A-01D-1126-08	15716067	36302313	71047227	39	11423											
OCA2	4948	broad.mit.edu	37	chr15	28096604	28096604	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acctcagggtcgtggctcagGttcaggagcacgggaatctg	15	10	4	0			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr15:28096604G>C	uc001zbh.3	-	22	2372	c.2262C>G	c.(2260-2262)AAC>AAG	p.N754K	OCA2_uc010ayv.2_Missense_Mutation_p.N730K	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	754	Cytoplasmic (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CGTGGCTCAGGTTCAGGAGCA	0.582									Oculocutaneous_Albinism				C	28096604	G	C	28096604	3	2	14	1	0	0	0	0	1	0	0	0	10815	1252	44	5	266	5	OCA2	15	28096604	Missense_Mutation	SNP	G	TCGA-BR-4279-01A-01D-1126-08		28096604	74434788	40	11424											
DUOX2	50506	broad.mit.edu	37	chr15	45388106	45388106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccagggccccactgcccGgatgtgcaggctgagtgtgt	16	12	0	1			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr15:45388106G>A	uc010bea.2	-	30	4203	c.4000C>T	c.(4000-4002)CGG>TGG	p.R1334W	DUOX2_uc001zun.2_Missense_Mutation_p.R1334W	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1334	Cytoplasmic (Potential).|FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCCACTGCCCGGATGTGCAGG	0.642													A	45388106	G	A	45388106	3	1	14	1	0	0	0	0	1	0	0	0	4801	1115	39	1	666	1	DUOX2	15	45388106	Missense_Mutation	SNP	G	TCGA-BR-4279-01A-01D-1126-08	17291502	45388106	57143286	41	11425											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84442350	84442350	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgactggagtgactgctccCggacctgtgggggaggagca	18	10	0	1			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr15:84442350C>A	uc002bjz.3	+	4	489	c.265C>A	c.(265-267)CGG>AGG	p.R89R	ADAMTSL3_uc002bjy.1_Silent_p.R89R|ADAMTSL3_uc010bmt.1_Silent_p.R89R|ADAMTSL3_uc010bmu.1_Silent_p.R89R	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	89	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGACTGCTCCCGGACCTGTGG	0.502													A	84442350	C	A	84442350	2	1	14	1	0	0	0	0	0	0	0	1	276	643	23	5		5	ADAMTSL3	15	84442350	Silent	SNP	C	TCGA-BR-4279-01A-01D-1126-08	39054244	84442350	18089042	42	11426											
CDH1	999	broad.mit.edu	37	chr16	68842728	68842728	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgacagagcctctggatAgagaacgcattgccacatac	11	10	1	3			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr16:68842728A>G	uc002ewg.1	+	5	788	c.664A>G	c.(664-666)AGA>GGA	p.R222G	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.R222G	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	222	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GCCTCTGGATAGAGAACGCAT	0.478			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				G	68842728	A	G	68842728	3	3	14	1	0	0	0	0	1	0	0	0	3095	412	15	3	682	3	CDH1	16	68842728	Missense_Mutation	SNP	A	TCGA-BR-4279-01A-01D-1126-08		68842728	21512025	43	11427											
CDH1	999	broad.mit.edu	37	chr16	68856129	68856129	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattcagtacaacgacccaaGtgggtacctgagttttattt	8	9	1	1			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr16:68856129G>T	uc002ewg.1	+	12	2060	c.1936_splice	c.e12+1	p.T646_splice	CDH1_uc010vlj.1_Splice_Site|CDH1_uc010cfg.1_Splice_Site_p.T585_splice	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein						adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AACGACCCAAGTGGGTACCTG	0.488			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				T	68856129	G	T	68856129	5	4	14	1	0	0	0	0	0	0	1	0	3095	1043	36	5	1983	5	CDH1	16	68856129	Splice_Site	SNP	G	TCGA-BR-4279-01A-01D-1126-08	13401	68856129	21498624	44	11428											
ADAMTS18	170692	broad.mit.edu	37	chr16	77393318	77393318	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattccactgatgggggcaaAccctattgaaagagcagttt	10	9	0	3			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr16:77393318A>C	uc002ffc.3	-	8	1638	c.1219T>G	c.(1219-1221)TTT>GTT	p.F407V	ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_Missense_Mutation_p.F103V|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	407	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						ATGGGGGCAAACCCTATTGAA	0.433													C	77393318	A	C	77393318	3	2	14	1	0	0	0	0	1	0	0	0	263	43	2	5	2510	5	ADAMTS18	16	77393318	Missense_Mutation	SNP	A	TCGA-BR-4279-01A-01D-1126-08	8537189	77393318	12961435	45	11429											
IMP5	162540	broad.mit.edu	37	chr17	43923421	43923421	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccttcctgctggccctgctGgcctttgatgtcttctttgt	9	13	2	1			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr17:43923421G>T	uc010wka.1	+	1	1149	c.1149G>T	c.(1147-1149)CTG>CTT	p.L383L	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	383	Helical; (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		TGGCCCTGCTGGCCTTTGATG	0.582													T	43923421	G	T	43923421	2	4	14	1	0	0	0	0	0	0	0	1	7721	1335	47	5		5	IMP5	17	43923421	Silent	SNP	G	TCGA-BR-4279-01A-01D-1126-08		43923421	37271789	46	11430											
TRIM25	7706	broad.mit.edu	37	chr17	54981760	54981760	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctcctcttcctttatcttCcttgtcgaggtggtctctga	7	12	4	1			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr17:54981760C>T	uc002iut.2	-	3	843	c.783G>A	c.(781-783)AGG>AGA	p.R261R	TRIM25_uc010dcj.2_Silent_p.R53R	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	261	Interaction with influenza A virus NS1.|Potential.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)					CCTTTATCTTCCTTGTCGAGG	0.478													T	54981760	C	T	54981760	2	4	14	1	0	0	0	0	0	0	0	1	16496	854	30	4		4	TRIM25	17	54981760	Silent	SNP	C	TCGA-BR-4279-01A-01D-1126-08	11058339	54981760	26213450	47	11431											
KCNH6	81033	broad.mit.edu	37	chr17	61611421	61611421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagccgccttcctgctcagcGatcaggacgaatcacggcgt	11	15	3	0			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr17:61611421G>A	uc002jay.2	+	5	930	c.850G>A	c.(850-852)GAT>AAT	p.D284N	KCNH6_uc002jax.1_Missense_Mutation_p.D284N|KCNH6_uc010wpl.1_Missense_Mutation_p.D161N|KCNH6_uc010wpm.1_Missense_Mutation_p.D284N|KCNH6_uc002jaz.1_Missense_Mutation_p.D284N	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	284	Extracellular (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	CCTGCTCAGCGATCAGGACGA	0.592													A	61611421	G	A	61611421	3	1	14	1	0	0	0	0	1	0	0	0	8036	1058	37	1	868	1	KCNH6	17	61611421	Missense_Mutation	SNP	G	TCGA-BR-4279-01A-01D-1126-08	6629661	61611421	19583789	48	11432											
SMAD4	4089	broad.mit.edu	37	chr18	48591918	48591918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggacccttctggaggagatCgcttttgtttgggtcaactc	12	9	2	1	rs80338963		TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr18:48591918C>T	uc010xdp.1	+	9	1619	c.1081C>T	c.(1081-1083)CGC>TGC	p.R361C	SMAD4_uc002lfb.3_Missense_Mutation_p.R206C	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	361	MH2.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in JPS).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.R361C(6)|p.R361H(3)|p.?(2)|p.R361S(1)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGAGGAGATCGCTTTTGTTT	0.413									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				T	48591918	C	T	48591918	3	4	14	1	0	0	0	0	1	0	0	0	14760	884	31	1	1111	1	SMAD4	18	48591918	Missense_Mutation	SNP	C	TCGA-BR-4279-01A-01D-1126-08		48591918	29485330	49	11433											
MUC16	94025	broad.mit.edu	37	chr19	9089753	9089753	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttccttccctgaaagctgAggactgtagagatgatgtct	12	8	1	4			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr19:9089753A>G	uc002mkp.2	-	1	2266	c.2062T>C	c.(2062-2064)TCA>CCA	p.S688P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	688	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTGAAAGCTGAGGACTGTAGA	0.502													G	9089753	A	G	9089753	3	3	14	1	0	0	0	0	1	0	0	0	9973	304	11	3	41797	3	MUC16	19	9089753	Missense_Mutation	SNP	A	TCGA-BR-4279-01A-01D-1126-08		9089753	50039230	50	11434											
NAPSA	9476	broad.mit.edu	37	chr19	50864332	50864332	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatcaaaatgggcaaaagcGaagaccaggctgggctccca	11	12	1	1			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr19:50864332G>A	uc002prx.2	-	5	587	c.534C>T	c.(532-534)TTC>TTT	p.F178F	NR1H2_uc002prv.3_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	napsin A preproprotein	178					proteolysis	extracellular region	aspartic-type endopeptidase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GGGCAAAAGCGAAGACCAGGC	0.527													A	50864332	G	A	50864332	2	1	14	1	0	0	0	0	0	0	0	1	10166	1049	37	1		1	NAPSA	19	50864332	Silent	SNP	G	TCGA-BR-4279-01A-01D-1126-08	41774579	50864332	8264651	51	11435											
LILRA4	23547	broad.mit.edu	37	chr19	54848675	54848675	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgctgggctcctcacctgcGatcaggatgtccagggggtc	14	14	2	0	rs142322002	byFrequency	TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr19:54848675G>A	uc002qfj.2	-	5	1005	c.948C>T	c.(946-948)ATC>ATT	p.I316I	LILRA4_uc002qfi.2_Silent_p.I250I	NM_012276	NP_036408	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor subfamily	316	Extracellular (Potential).					integral to membrane	receptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCTCACCTGCGATCAGGATGT	0.692													A	54848675	G	A	54848675	2	1	14	1	0	0	0	0	0	0	0	1	8787	1048	37	1		1	LILRA4	19	54848675	Silent	SNP	G	TCGA-BR-4279-01A-01D-1126-08	3984343	54848675	4280308	52	11436											
USP29	57663	broad.mit.edu	37	chr19	57641825	57641825	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgattccctggttctaccCgttgaaccagacaagaatgc	9	11	1	4	rs35663514		TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr19:57641825C>T	uc002qny.2	+	4	2138	c.1782C>T	c.(1780-1782)CCC>CCT	p.P594P		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	594					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGTTCTACCCGTTGAACCAG	0.488													T	57641825	C	T	57641825	2	4	14	1	0	0	0	0	0	0	0	1	17056	639	23	1		1	USP29	19	57641825	Silent	SNP	C	TCGA-BR-4279-01A-01D-1126-08	2793150	57641825	1487158	53	11437											
PRIC285	85441	broad.mit.edu	37	chr20	62196078	62196078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgtgcacagccacctcgCacctgggacccaggtctcgg	12	15	1	1			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr20:62196078C>T	uc002yfm.2	-	9	4989	c.4097G>A	c.(4096-4098)TGC>TAC	p.C1366Y	PRIC285_uc002yfl.1_Missense_Mutation_p.C797Y	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1366					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			AGCCACCTCGCACCTGGGACC	0.672													T	62196078	C	T	62196078	3	4	14	1	0	0	0	0	1	0	0	0	12485	710	25	2	3900	2	PRIC285	20	62196078	Missense_Mutation	SNP	C	TCGA-BR-4279-01A-01D-1126-08		62196078	829442	54	11438											
BRWD1	54014	broad.mit.edu	37	chr21	40587280	40587280	+	Frame_Shift_Del	DEL	G	G	-													tgacttcccaaactaacgcaGacagcctccttcaaaataaa							TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr21:40587279_40587279AG>A	uc002yxk.2	-	31	3964	c.3669_3669CT>T	c.(3667-3669)tctfs	p.S1223fs	BRWD1_uc010goc.1_5'UTR|BRWD1_uc021wjf.1_Frame_Shift_Del_p.S1223fs|BRWD1_uc010god.1_Frame_Shift_Del_p.S189fs	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1223	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AAACTAACGCAGACAGCCTCC	0.353													-	40587280	G	-	40587280	7	5	14	1	0	1	0	1	0	0	0	0	1525	942	33	0	3577	0	BRWD1	21	40587280	Frame_Shift_Del	DEL	G	TCGA-BR-4279-01A-01D-1126-08		40587280	7542615	55	11439											
CDC45	8318	broad.mit.edu	37	chr22	19492984	19492984	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acactctccgtggactgcacAcggatctcctttgagtatga	9	12	2	2			TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chr22:19492984A>G	uc002zpr.2	+	10	880	c.804A>G	c.(802-804)ACA>ACG	p.T268T	CDC45_uc011agz.1_Silent_p.T263T|CDC45_uc011aha.1_Silent_p.T300T|CDC45_uc002zps.2_Silent_p.T268T|CDC45_uc002zpt.2_Silent_p.T222T	NM_003504	NP_003495	O75419	CDC45_HUMAN	CDC45-like	268					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			lung(1)	1						TGGACTGCACACGGATCTCCT	0.572													G	19492984	A	G	19492984	2	3	14	1	0	0	0	0	0	0	0	1	3081	146	6	3		3	CDC45	22	19492984	Silent	SNP	A	TCGA-BR-4279-01A-01D-1126-08		19492984	31811582	56	11440											
L1CAM	3897	broad.mit.edu	37	chrX	153129907	153129907	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtagctgacatactgtggCgaaagggaagccccaccctt	11	11	0	1	rs142563956	byFrequency	TCGA-BR-4279-01A-01D-1126-08	TCGA-BR-4279-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee907395-2e2f-471b-8840-f8b261a8c8f6	39c01fd0-41e5-402a-9060-6052f32ea50a	g.chrX:153129907C>T	uc004fjb.2	-	24	3300	c.3192G>A	c.(3190-3192)TCG>TCA	p.S1064S	L1CAM_uc004fjc.2_Silent_p.S1064S|L1CAM_uc010nuo.2_Silent_p.S1059S	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	1064	Fibronectin type-III 5.|Extracellular (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATACTGTGGCGAAAGGGAAG	0.607													T	153129907	C	T	153129907	2	4	14	1	0	0	0	0	0	0	0	1	8588	755	27	1		1	L1CAM	23	153129907	Silent	SNP	C	TCGA-BR-4279-01A-01D-1126-08		153129907	2140653	57	11441											
CDK11A	728642	broad.mit.edu	37	chr1	1638926	1638926	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggagtcgggcacatagtcGccctctgtcagggcgctgct	16	12	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:1638926G>A	uc009vks.2	-	11	1275	c.1167C>T	c.(1165-1167)GGC>GGT	p.G389G	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc001ahj.3_5'UTR|CDK11A_uc009vkp.2_Intron|CDK11A_uc009vkq.2_Intron|CDK11A_uc009vkr.2_Silent_p.G379G|CDK11A_uc010nys.1_Silent_p.G379G|CDK11A_uc010nyt.1_Silent_p.G389G|CDK11A_uc010nyu.1_RNA	NM_024011	NP_076916	Q9UQ88	CD11A_HUMAN	cell division cycle 2-like 2 isoform 1	392					apoptosis|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			stomach(1)	1						GCACATAGTCGCCCTCTGTCA	0.652													A	1638926	G	A	1638926	2	1	15	1	0	0	0	0	0	0	0	1	3126	1074	38	1		1	CDK11A	1	1638926	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08		1638926	247611695	1	11442											
MMEL1	79258	broad.mit.edu	37	chr1	2526293	2526293	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcccaccttgaggttctGcagactgttctcaaagtaca	10	12	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:2526293G>A	uc001ajy.2	-	17	1838	c.1624C>T	c.(1624-1626)CAG>TAG	p.Q542*	MMEL1_uc009vlg.1_RNA	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	542	Potential.|Lumenal (Potential).				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TTGAGGTTCTGCAGACTGTTC	0.627													A	2526293	G	A	2526293	4	1	15	1	0	0	0	0	0	1	0	0	9646	1328	46	2	747	2	MMEL1	1	2526293	Nonsense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	887367	2526293	246724328	2	11443											
PRDM16	63976	broad.mit.edu	37	chr1	3328152	3328152	+	Frame_Shift_Del	DEL	C	C	-													tgccccgggcctgcccttgaCccccagccccatgatggaca							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:3328152delC	uc001akf.2	+	9	1471	c.1391delC	c.(1390-1392)ACCfs	p.T464fs	PRDM16_uc001akc.2_Frame_Shift_Del_p.T464fs|PRDM16_uc001akd.2_Frame_Shift_Del_p.T464fs|PRDM16_uc001ake.2_Frame_Shift_Del_p.T464fs|PRDM16_uc009vlh.2_Frame_Shift_Del_p.T165fs	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	464	Pro-rich.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CTGCCCTTGACCCCCAGCCCC	0.637			T	EVI1	MDS|AML								-	3328152	C	-	3328152	7	5	15	1	0	1	0	1	0	0	0	0	12457	507	18	0	1425	0	PRDM16	1	3328152	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	801859	3328152	245922469	3	11444											
TP73	7161	broad.mit.edu	37	chr1	3638707	3638707	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcctgtttacaagaaagcGgagcacgtgaccgacgtcgt	12	10	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:3638707G>A	uc001akp.2	+	5	662	c.552G>A	c.(550-552)GCG>GCA	p.A184A	TP73_uc001akq.2_Silent_p.A184A|TP73_uc010nzj.1_Silent_p.A135A|TP73_uc001akr.2_Silent_p.A135A|TP73_uc009vlk.1_Silent_p.A135A|TP73_uc001aks.2_Silent_p.A135A|TP73_uc010nzk.1_Silent_p.A113A	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	184	DNA-binding (Potential).				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		ACAAGAAAGCGGAGCACGTGA	0.637													A	3638707	G	A	3638707	2	1	15	1	0	0	0	0	0	0	0	1	16390	1103	39	1		1	TP73	1	3638707	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	310555	3638707	245611914	4	11445											
CHD5	26038	broad.mit.edu	37	chr1	6203990	6203990	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtcttctcccagcatcagctCcctgggaaacggcattggag	11	13	3	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:6203990C>A	uc001amb.1	-	13	2036	c.1936G>T	c.(1936-1938)GAG>TAG	p.E646*	CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	646	Chromo 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGCATCAGCTCCCTGGGAAAC	0.647													A	6203990	C	A	6203990	4	1	15	1	0	0	0	0	0	1	0	0	3328	869	30	5	4044	5	CHD5	1	6203990	Nonsense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2565283	6203990	243046631	5	11446											
PRAMEF2	65122	broad.mit.edu	37	chr1	12920127	12920127	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctggaacagctgatcagGtgagaaaggattgtgcactt	12	8	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:12920127G>A	uc001aum.1	+	3	953	c.866_splice	c.e3+1	p.R289_splice		NM_023014	NP_075390	O60811	PRAM2_HUMAN	PRAME family member 2												0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTGATCAGGTGAGAAAGGA	0.478													A	12920127	G	A	12920127	5	1	15	1	0	0	0	0	0	0	1	0	12435	1275	44	4	873	4	PRAMEF2	1	12920127	Splice_Site	SNP	G	TCGA-BR-4280-01A-01D-1126-08	6716137	12920127	236330494	6	11447											
CELA2B	51032	broad.mit.edu	37	chr1	15813917	15813917	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcgggtctccaactacaaCgactggatcaattcggtaag	10	11	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:15813917C>T	uc001awl.2	+	7	802	c.777C>T	c.(775-777)AAC>AAT	p.N259N		NM_015849	NP_056933	P08218	CEL2B_HUMAN	elastase 2B preproprotein	259	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						CCAACTACAACGACTGGATCA	0.607													T	15813917	C	T	15813917	2	4	15	1	0	0	0	0	0	0	0	1	3212	535	19	1		1	CELA2B	1	15813917	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2893790	15813917	233436704	7	11448											
DNAJC16	23341	broad.mit.edu	37	chr1	15890807	15890807	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcgatggttctactctgcTtctgactacatctcagactg	7	12	4	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:15890807T>C	uc001aws.2	+	11	1671	c.1551T>C	c.(1549-1551)GCT>GCC	p.A517A	DNAJC16_uc001awr.1_Silent_p.A517A|DNAJC16_uc001awt.2_Silent_p.A205A|DNAJC16_uc001awu.2_RNA	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	517	Cytoplasmic (Potential).				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			urinary_tract(1)|lung(1)|kidney(1)	3		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TCTACTCTGCTTCTGACTACA	0.433													C	15890807	T	C	15890807	2	2	15	1	0	0	0	0	0	0	0	1	4635	1596	56	3		3	DNAJC16	1	15890807	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	76890	15890807	233359814	8	11449											
RSC1A1	6248	broad.mit.edu	37	chr1	15986909	15986909	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgaggttgcacaacaaaaAgcttcacatgaccaagaata	7	8	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:15986909A>G	uc010obn.1	+	1	546	c.546A>G	c.(544-546)AAA>AAG	p.K182K		NM_006511	NP_006502	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1,	182					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			ovary(1)	1		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACAACAAAAAGCTTCACATG	0.423													G	15986909	A	G	15986909	2	3	15	1	0	0	0	0	0	0	0	1	13698	69	3	3		3	RSC1A1	1	15986909	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	96102	15986909	233263712	9	11450											
SPATA21	374955	broad.mit.edu	37	chr1	16725286	16725286	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttcgagctggcacagagcTgagccactttctgctgtcag	13	11	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:16725286T>C	uc001ayn.2	-	13	1867	c.1384A>G	c.(1384-1386)AGC>GGC	p.S462G	SPATA21_uc001ayl.1_Intron|SPATA21_uc010occ.1_Missense_Mutation_p.S439G	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	462							calcium ion binding			ovary(2)|breast(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GGCACAGAGCTGAGCCACTTT	0.592													C	16725286	T	C	16725286	3	2	15	1	0	0	0	0	1	0	0	0	15006	1580	55	3	29	3	SPATA21	1	16725286	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	738377	16725286	232525335	10	11451											
E2F2	1870	broad.mit.edu	37	chr1	23836471	23836471	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtcgtcctggtccaaggaTggggagaagctgatcagagg	16	7	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:23836471T>C	uc001bhe.1	-	7	1643	c.1215A>G	c.(1213-1215)CCA>CCG	p.P405P		NM_004091	NP_004082	Q14209	E2F2_HUMAN	E2F transcription factor 2	405	Transactivation (Potential).				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|skin(2)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GGTCCAAGGATGGGGAGAAGC	0.612													C	23836471	T	C	23836471	2	2	15	1	0	0	0	0	0	0	0	1	4867	1451	51	3		3	E2F2	1	23836471	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	7111185	23836471	225414150	11	11452											
TCEB3	6924	broad.mit.edu	37	chr1	24083515	24083515	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagctttaaccccagcccTgaggagccggcctatgatgg	11	13	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:24083515T>C	uc001bho.2	+	10	2295	c.2235T>C	c.(2233-2235)CCT>CCC	p.P745P		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	745					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ACCCCAGCCCTGAGGAGCCGG	0.577													C	24083515	T	C	24083515	2	2	15	1	0	0	0	0	0	0	0	1	15678	1567	55	3		3	TCEB3	1	24083515	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	247044	24083515	225167106	12	11453											
GALE	2582	broad.mit.edu	37	chr1	24125170	24125170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcaaactccacagagcGgcctgtcagctcctggaccc	8	18	2	1	rs142821993	byFrequency	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:24125170G>A	uc009vqo.1	-	3	382	c.172C>T	c.(172-174)CGC>TGC	p.R58C	GALE_uc001bhv.1_Missense_Mutation_p.R58C|GALE_uc001bhw.1_Missense_Mutation_p.R58C|GALE_uc001bhx.1_Missense_Mutation_p.R58C|GALE_uc009vqp.1_Missense_Mutation_p.R58C|GALE_uc001bhy.1_Missense_Mutation_p.R58C|GALE_uc001bhz.1_5'UTR|GALE_uc001bia.2_5'Flank|GALE_uc009vqq.1_Missense_Mutation_p.R58C	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	UDP-galactose-4-epimerase	58					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity				0		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TCCACAGAGCGGCCTGTCAGC	0.517													A	24125170	G	A	24125170	3	1	15	1	0	0	0	0	1	0	0	0	6202	1116	39	1	910	1	GALE	1	24125170	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	41655	24125170	225125451	13	11454											
MYOM3	127294	broad.mit.edu	37	chr1	24408528	24408528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgggctgctgattgaccGcatgccagtccagctcttcc	12	13	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:24408528G>A	uc001bin.3	-	18	2406	c.2243C>T	c.(2242-2244)GCG>GTG	p.A748V	MYOM3_uc001bim.3_Missense_Mutation_p.A405V|MYOM3_uc001bio.2_Missense_Mutation_p.A748V|MYOM3_uc001bip.1_3'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	748	Fibronectin type-III 4.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTGATTGACCGCATGCCAGTC	0.602													A	24408528	G	A	24408528	3	1	15	1	0	0	0	0	1	0	0	0	10093	1087	38	1	2150	1	MYOM3	1	24408528	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	283358	24408528	224842093	14	11455											
PDIK1L	149420	broad.mit.edu	37	chr1	26448694	26448694	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaagtgtttcctttccacaGcatgtggaacagatttttac	7	9	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:26448694G>T	uc010oew.1	+	3	925	c.652G>T	c.(652-654)GCA>TCA	p.A218S	PDIK1L_uc001blj.3_Missense_Mutation_p.A218S|PDIK1L_uc009vsb.2_Missense_Mutation_p.A218S	NM_152835	NP_690048	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	218	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity				0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTTCCACAGCATGTGGAAC	0.443													T	26448694	G	T	26448694	3	4	15	1	0	0	0	0	1	0	0	0	11673	971	34	5	658	5	PDIK1L	1	26448694	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	2040166	26448694	222801927	15	11456											
CCDC21	64793	broad.mit.edu	37	chr1	26582097	26582097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacccaagaaccagcacaaGtaaggagttgtacagagtgt	10	9	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:26582097G>A	uc001bls.1	+	4	775	c.644G>A	c.(643-645)AGT>AAT	p.S215N	CCDC21_uc001blr.2_Missense_Mutation_p.S215N|CCDC21_uc010ofa.1_Missense_Mutation_p.S164N	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN	coiled-coil domain containing 21	215						centrosome|nucleolus|spindle pole					0		all_cancers(24;7e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.6e-26)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;9.48e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00917)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAGCACAAGTAAGGAGTTG	0.532													A	26582097	G	A	26582097	3	1	15	1	0	0	0	0	1	0	0	0	2796	1029	36	4	654	4	CCDC21	1	26582097	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	133403	26582097	222668524	16	11457											
COL16A1	1307	broad.mit.edu	37	chr1	32119201	32119202	+	Frame_Shift_Ins	INS	-	-	G													aatggtggtatttcctacctINSggggggccgggaagaccatt							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:32119201_32119202insG	uc001btk.1	-	70	4975_4976	c.4610_4611insC	c.(4609-4611)CCAfs	p.P1537fs	COL16A1_uc001bti.1_Frame_Shift_Ins_p.P151fs|COL16A1_uc001btj.1_Frame_Shift_Ins_p.P1335fs	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	1537	Triple-helical region 1 (COL1) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		ATTTCCTACCTGGGGGGCCGGG	0.446													G	32119202	-	G	32119201	7	5	15	1	0	1	1	0	0	0	0	0	3673	1594	55	0	211	0	COL16A1	1	32119201	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	5537104	32119201	217131420	17	11458	19	2									
COL16A1	1307	broad.mit.edu	37	chr1	32119202	32119203	+	Splice_Site	INS	-	-	G													atggtggtatttcctacctgINSgggggccgggaagaccattt							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:32119201_32119202T>TG	uc001btk.1	-	70	4977	c.4612_splice	c.e70+1	p.G1538_splice	COL16A1_uc001btj.1_Splice_Site_p.G1336_splice	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	1538	Triple-helical region 1 (COL1) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		ATTTCCTACCTGGGGGGCCGGG	0.446													G	32119203	-	G	32119202	8	5	15	1	0	1	1	0	0	0	1	0	3673	1348	47	0	212	0	COL16A1	1	32119202	Splice_Site	INS	-	TCGA-BR-4280-01A-01D-1126-08	1	32119202	217131419	18	11459	19	2									
ADC	113451	broad.mit.edu	37	chr1	33585749	33585749	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcacagacaccctgtgcgTgggccctgtcttcaccccag	10	16	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:33585749T>C	uc001bwr.2	+	12	1936	c.1349T>C	c.(1348-1350)GTG>GCG	p.V450A	ADC_uc001bws.2_Missense_Mutation_p.V450A|ADC_uc009vue.2_Missense_Mutation_p.V450A|ADC_uc001bwt.1_3'UTR|ADC_uc001bwu.2_Missense_Mutation_p.V355A|ADC_uc001bwv.2_Missense_Mutation_p.V355A|ADC_uc001bww.2_Missense_Mutation_p.V355A|ADC_uc001bwx.1_3'UTR|ADC_uc009vug.2_Missense_Mutation_p.V470A	NM_052998	NP_443724	Q96A70	ADC_HUMAN	ODC antizyme inhibitor-2	450					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	ACCCTGTGCGTGGGCCCTGTC	0.637													C	33585749	T	C	33585749	3	2	15	1	0	0	0	0	1	0	0	0	287	1696	59	3	1383	3	ADC	1	33585749	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	1466547	33585749	215664872	19	11460											
PHC2	1912	broad.mit.edu	37	chr1	33841025	33841025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatctggggcccggtggggCggccacttccaccactgctg	14	14	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:33841025C>T	uc001bxg.1	-	1	170	c.116G>A	c.(115-117)CGC>CAC	p.R39H	PHC2_uc001bxh.1_Missense_Mutation_p.R39H|PHC2_uc009vuh.1_Missense_Mutation_p.R39H|PHC2_uc001bxi.1_Missense_Mutation_p.R39H	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	polyhomeotic-like 2 isoform a	39					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCCGGTGGGgcggccacttcc	0.333													T	33841025	C	T	33841025	3	4	15	1	0	0	0	0	1	0	0	0	11817	768	27	1	2516	1	PHC2	1	33841025	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	255276	33841025	215409596	20	11461											
CSMD2	114784	broad.mit.edu	37	chr1	34006749	34006749	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttgcagacgggcttggtTccattccatgtccggtcctt	10	13	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:34006749T>C	uc001bxn.1	-	58	9035	c.9006A>G	c.(9004-9006)GGA>GGG	p.G3002G	CSMD2_uc001bxm.1_Silent_p.G3146G	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3002	Extracellular (Potential).|Sushi 22.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGGGCTTGGTTCCATTCCATG	0.488													C	34006749	T	C	34006749	2	2	15	1	0	0	0	0	0	0	0	1	3945	1770	62	3		3	CSMD2	1	34006749	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	165724	34006749	215243872	21	11462											
BMP8B	656	broad.mit.edu	37	chr1	40230378	40230378	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagtggcctcactgcccgaGgggtgcggatgggactcgga	17	11	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:40230378G>T	uc001cdz.1	-	4	1161	c.785C>A	c.(784-786)CCT>CAT	p.P262H	BMP8B_uc001cea.1_Missense_Mutation_p.P287H	NM_001720	NP_001711	P34820	BMP8B_HUMAN	bone morphogenetic protein 8B preproprotein	262					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity				0	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CACTGCCCGAGGGGTGCGGAT	0.662													T	40230378	G	T	40230378	3	4	15	1	0	0	0	0	1	0	0	0	1467	1000	35	5	439	5	BMP8B	1	40230378	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	6223629	40230378	209020243	22	11463											
TIE1	7075	broad.mit.edu	37	chr1	43772910	43772910	+	Frame_Shift_Del	DEL	C	C	-													catgacggcgaatgtgtatgCccccctggcttcactggcac							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:43772910delC	uc001ciu.2	+	5	817	c.738delC	c.(736-738)TGCfs	p.C246fs	TIE1_uc010okd.1_Frame_Shift_Del_p.C246fs|TIE1_uc010oke.1_Frame_Shift_Del_p.C201fs|TIE1_uc009vwq.2_Intron|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.1_5'UTR|TIE1_uc010okc.1_Frame_Shift_Del_p.C246fs	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	246	Extracellular (Potential).|EGF-like 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AATGTGTATGCCCCCCTGGCT	0.632													-	43772910	C	-	43772910	7	5	15	1	0	1	0	1	0	0	0	0	15890	747	26	0	756	0	TIE1	1	43772910	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	3542532	43772910	205477711	23	11464											
PTPRF	5792	broad.mit.edu	37	chr1	44064544	44064544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagaatggcgagccccgtgGactccccatcatccaagacg	12	14	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:44064544G>A	uc001cjr.2	+	13	2613	c.2273G>A	c.(2272-2274)GGA>GAA	p.G758E	PTPRF_uc001cjs.2_Missense_Mutation_p.G758E|PTPRF_uc001cju.2_Missense_Mutation_p.G329E|PTPRF_uc009vwt.2_Missense_Mutation_p.G329E|PTPRF_uc001cjv.2_Missense_Mutation_p.G227E|PTPRF_uc001cjw.2_5'UTR	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	758	Fibronectin type-III 5.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGCCCCGTGGACTCCCCATC	0.632													A	44064544	G	A	44064544	3	1	15	1	0	0	0	0	1	0	0	0	12801	1174	41	4	2315	4	PTPRF	1	44064544	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	291634	44064544	205186077	24	11465											
DMAP1	55929	broad.mit.edu	37	chr1	44684086	44684086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctttgacctcagccgccGctttgacctgcgttttgttg	9	14	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:44684086G>A	uc001clq.1	+	5	577	c.497G>A	c.(496-498)CGC>CAC	p.R166H	DMAP1_uc010okt.1_Missense_Mutation_p.A205T|DMAP1_uc001clr.1_Missense_Mutation_p.R166H|DMAP1_uc001cls.1_Missense_Mutation_p.R166H|DMAP1_uc010oku.1_Missense_Mutation_p.R156H	NM_001034024	NP_001029196	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	166	SANT.				DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					CTCAGCCGCCGCTTTGACCTG	0.527											OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	44684086	G	A	44684086	3	1	15	1	0	0	0	0	1	0	0	0	4576	1087	38	1	511	1	DMAP1	1	44684086	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	619542	44684086	204566535	25	11466											
KIAA0494	9813	broad.mit.edu	37	chr1	47149030	47149030	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgggcagctttctcaacTgggtctccaagaaactgtga	11	9	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:47149030T>C	uc001cqk.3	-	10	2231	c.1254A>G	c.(1252-1254)CCA>CCG	p.P418P	KIAA0494_uc010omh.1_Silent_p.P354P|KIAA0494_uc010omj.1_Silent_p.P210P	NM_014774	NP_055589	O75071	K0494_HUMAN	hypothetical protein LOC9813	418							calcium ion binding				0	Acute lymphoblastic leukemia(166;0.155)					CTTTCTCAACTGGGTCTCCAA	0.388													C	47149030	T	C	47149030	2	2	15	1	0	0	0	0	0	0	0	1	8179	1567	55	3		3	KIAA0494	1	47149030	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	2464944	47149030	202101591	26	11467											
FGGY	55277	broad.mit.edu	37	chr1	59811947	59811947	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcgaaacgtcatcatgtgGctggaccatcgagcagtcag	11	11	3	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:59811947G>A	uc001czi.3	+	4	554	c.342G>A	c.(340-342)TGG>TGA	p.W114*	FGGY_uc001czg.2_Nonsense_Mutation_p.W2*|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Nonsense_Mutation_p.W114*|FGGY_uc001czj.3_Nonsense_Mutation_p.W114*|FGGY_uc001czk.3_Nonsense_Mutation_p.W2*|FGGY_uc001czl.3_Intron	NM_018291	NP_060761	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	114					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(1)	1	all_cancers(7;7.36e-05)					TCATCATGTGGCTGGACCATC	0.502													A	59811947	G	A	59811947	4	1	15	1	0	0	0	0	0	1	0	0	5871	1212	42	2	352	2	FGGY	1	59811947	Nonsense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	12662917	59811947	189438674	27	11468											
FGGY	55277	broad.mit.edu	37	chr1	59812017	59812018	+	Frame_Shift_Ins	INS	-	-	G													cagtgtcctccagtacgtcgINSggggggtgatgtctgtggaa					rs145440779	by1000genomes	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:59812016_59812017C>CG	uc009wac.3	+	3	623_624	c.411_412C>CG	c.(409-414)gtcgggfs	p.V137fs	FGGY_uc001czg.2_Frame_Shift_Ins_p.V25fs|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Frame_Shift_Ins_p.V137fs|FGGY_uc001czl.4_Intron	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.5													G	59812018	-	G	59812017	7	5	15	1	0	1	1	0	0	0	0	0	5871	1116	39	0	422	0	FGGY	1	59812017	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	70	59812017	189438604	28	11469											
KANK4	163782	broad.mit.edu	37	chr1	62718875	62718875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttctgatggtccacattgCagacgcctgcaagagaagca	11	10	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:62718875C>T	uc001dah.3	-	8	2923	c.2546G>A	c.(2545-2547)TGC>TAC	p.C849Y	KANK4_uc001dai.3_Missense_Mutation_p.C221Y|KANK4_uc001daf.3_5'UTR|KANK4_uc001dag.3_Missense_Mutation_p.C205Y	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	849	ANK 1.									ovary(3)|skin(2)|lung(1)	6						GTCCACATTGCAGACGCCTGC	0.542													T	62718875	C	T	62718875	3	4	15	1	0	0	0	0	1	0	0	0	7979	710	25	2	453	2	KANK4	1	62718875	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2906858	62718875	186531746	29	11470											
ATG4C	84938	broad.mit.edu	37	chr1	63284744	63284744	+	Frame_Shift_Del	DEL	A	A	-													catggacttcccacactgtcAaaaaatttactgcatcattt							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:63284744delA	uc001dat.2	+	5	625	c.463delA	c.(463-465)AAAfs	p.K155fs	ATG4C_uc001dau.2_Frame_Shift_Del_p.K155fs	NM_178221	NP_835739	Q96DT6	ATG4C_HUMAN	APG4 autophagy 4 homolog C isoform 8	155					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity			ovary(1)	1						CCACACTGTCAAAAAATTTAC	0.378													-	63284744	A	-	63284744	7	5	15	1	0	1	0	1	0	0	0	0	1098	131	5	0	477	0	ATG4C	1	63284744	Frame_Shift_Del	DEL	A	TCGA-BR-4280-01A-01D-1126-08	565869	63284744	185965877	30	11471											
TTLL7	79739	broad.mit.edu	37	chr1	84373183	84373183	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcattactgtgaggcagatGcctcatgtaggaggaagcac	12	8	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:84373183G>T	uc001djc.2	-	16	2344	c.1948C>A	c.(1948-1950)CAT>AAT	p.H650N	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	650					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TGAGGCAGATGCCTCATGTAG	0.483													T	84373183	G	T	84373183	3	4	15	1	0	0	0	0	1	0	0	0	16729	1319	46	5	739	5	TTLL7	1	84373183	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	21088439	84373183	164877438	31	11472											
MCOLN2	255231	broad.mit.edu	37	chr1	85424271	85424271	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtatatacactgcagcTgtagtcatcttcatctgtac	7	9	4	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:85424271T>G	uc001dkm.2	-	3	593	c.352A>C	c.(352-354)AGC>CGC	p.S118R	MCOLN2_uc001dkn.2_RNA	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	mucolipin 2	118						integral to membrane	ion channel activity			ovary(3)|upper_aerodigestive_tract(1)	4				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		ACACTGCAGCTGTAGTCATCT	0.358													G	85424271	T	G	85424271	3	3	15	1	0	0	0	0	1	0	0	0	9396	1580	55	5	1396	5	MCOLN2	1	85424271	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	1051088	85424271	163826350	32	11473											
CLCA4	22802	broad.mit.edu	37	chr1	87031503	87031504	+	Frame_Shift_Ins	INS	-	-	A													ggttgttgaattttgtaacgINSaaaaaacccataatcaagaa							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:87031503_87031504insA	uc009wcs.2	+	6	798_799	c.754_755insA	c.(754-756)GAAfs	p.E252fs	CLCA4_uc009wct.2_Frame_Shift_Ins_p.E15fs|CLCA4_uc009wcu.2_Frame_Shift_Ins_p.E72fs	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	252						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ATTTTGTAACGAAAAAACCCAT	0.272													A	87031504	-	A	87031503	7	5	15	1	0	1	1	0	0	0	0	0	3459	1059	37	0	776	0	CLCA4	1	87031503	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	1607232	87031503	162219118	33	11474	20	2									
CLCA4	22802	broad.mit.edu	37	chr1	87031504	87031505	+	Frame_Shift_Ins	INS	-	-	A													gttgttgaattttgtaacgaINSaaaaacccataatcaagaag							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:87031503_87031504G>GA	uc009wcs.3	+	5	798_799	c.754_755G>GA	c.(754-756)gaafs	p.E252fs	CLCA4_uc009wct.3_Frame_Shift_Ins_p.E15fs|CLCA4_uc009wcu.3_Frame_Shift_Ins_p.E72fs	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	252						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.N251N(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ATTTTGTAACGAAAAAACCCAT	0.272													A	87031505	-	A	87031504	7	5	15	1	0	1	1	0	0	0	0	0	3459	246	9	0	777	0	CLCA4	1	87031504	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	1	87031504	162219117	34	11475	20	2									
PKN2	5586	broad.mit.edu	37	chr1	89206848	89206848	+	Frame_Shift_Del	DEL	A	A	-													tgaggaaagtcacaacagatAaaaaaagtttggcttatgta							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:89206848delA	uc001dmn.2	+	2	568	c.226delA	c.(226-228)AAAfs	p.K76fs	PKN2_uc001dmm.1_Frame_Shift_Del_p.K76fs|PKN2_uc010osp.1_Frame_Shift_Del_p.K76fs|PKN2_uc010osq.1_Intron|PKN2_uc009wcv.2_Frame_Shift_Del_p.K76fs	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	76	REM 1.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CACAACAGATAAAAAAAGTTT	0.308													-	89206848	A	-	89206848	7	5	15	1	0	1	0	1	0	0	0	0	11980	363	13	0	232	0	PKN2	1	89206848	Frame_Shift_Del	DEL	A	TCGA-BR-4280-01A-01D-1126-08	2175344	89206848	160043773	35	11476											
GBP2	2634	broad.mit.edu	37	chr1	89586917	89586917	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaccacatccagattcccTtggtgtgagacttcactgtg	8	13	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:89586917T>C	uc001dmz.1	-	3	498	c.227A>G	c.(226-228)AAG>AGG	p.K76R	GBP2_uc001dmy.1_RNA	NM_004120	NP_004111	P32456	GBP2_HUMAN	guanylate binding protein 2,	76					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)	1		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CCAGATTCCCTTGGTGTGAGA	0.453													C	89586917	T	C	89586917	3	2	15	1	0	0	0	0	1	0	0	0	6274	1609	56	3	1584	3	GBP2	1	89586917	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	380069	89586917	159663704	36	11477											
GLMN	11146	broad.mit.edu	37	chr1	92754658	92754658	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatagctgattccaaagggTagacaatgctaatccaattg	9	7	0	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:92754658T>C	uc001dor.2	-	6	560	c.445A>G	c.(445-447)ACC>GCC	p.T149A	GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.T149A	NM_053274	NP_444504	Q92990	GLMN_HUMAN	glomulin	149					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			skin(1)	1		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTCCAAAGGGTAGACAATGCT	0.378									Multiple_Glomus_Tumors_(of_the_Skin)_Familial				C	92754658	T	C	92754658	3	2	15	1	0	0	0	0	1	0	0	0	6448	1638	57	3	1395	3	GLMN	1	92754658	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	3167741	92754658	156495963	37	11478											
ARHGAP29	9411	broad.mit.edu	37	chr1	94668131	94668131	+	Frame_Shift_Del	DEL	T	T	-													cctcctcttccaaccttcgcTttttttctagttgcttgttg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:94668130_94668130CT>C	uc001dqj.4	-	10	1482	c.1113_1113AG>G	c.(1111-1113)aagfs	p.K371fs	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Frame_Shift_Del_p.K371fs	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	371					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CCAACCTTCGCTTTTTTTCTA	0.393													-	94668131	T	-	94668131	7	5	15	1	0	1	0	1	0	0	0	0	878	1609	56	0	2725	0	ARHGAP29	1	94668131	Frame_Shift_Del	DEL	T	TCGA-BR-4280-01A-01D-1126-08	1913473	94668131	154582490	38	11479											
VCAM1	7412	broad.mit.edu	37	chr1	101186193	101186193	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggtgacgaatgaggggAccacatctacgctgacaatg	14	8	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:101186193A>G	uc001dti.2	+	2	346	c.226A>G	c.(226-228)ACC>GCC	p.T76A	VCAM1_uc001dtj.2_Missense_Mutation_p.T76A|VCAM1_uc010ouj.1_Intron	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	76	Ig-like C2-type 1.|Extracellular (Potential).				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GAATGAGGGGACCACATCTAC	0.463													G	101186193	A	G	101186193	3	3	15	1	0	0	0	0	1	0	0	0	17134	275	10	3	232	3	VCAM1	1	101186193	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	6518062	101186193	148064428	39	11480											
SLC6A17	388662	broad.mit.edu	37	chr1	110714812	110714812	+	Frame_Shift_Del	DEL	G	G	-													cactatatatgtccccgcctGgggggcatcggcttctccag							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:110714812delG	uc009wfq.2	+	3	878	c.417delG	c.(415-417)CTGfs	p.L139fs		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	139	Cytoplasmic (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GTCCCCGCCTGGGGGGCATCG	0.632													-	110714812	G	-	110714812	7	5	15	1	0	1	0	1	0	0	0	0	14680	1335	47	0	423	0	SLC6A17	1	110714812	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	9528619	110714812	138535809	40	11481											
C1orf103	55791	broad.mit.edu	37	chr1	111494604	111494604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacaggaacaagagatggcGtaaaaggctgtagattatct	11	5	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:111494604G>A	uc001eaa.2	-	2	1158	c.902C>T	c.(901-903)ACG>ATG	p.T301M	C1orf103_uc001dzz.2_Intron|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	receptor-interacting factor 1 isoform 1	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding				0		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)		AAGAGATGGCGTAAAAGGCTG	0.343													A	111494604	G	A	111494604	3	1	15	1	0	0	0	0	1	0	0	0	1977	1145	40	1	1419	1	C1orf103	1	111494604	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	779792	111494604	137756017	41	11482											
MOV10	4343	broad.mit.edu	37	chr1	113237103	113237103	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgctttgtggatgggctgAccttcaaggtgaactttacc	12	10	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:113237103A>G	uc001eck.2	+	9	1594	c.1324A>G	c.(1324-1326)ACC>GCC	p.T442A	MOV10_uc001ecl.2_Missense_Mutation_p.T442A|MOV10_uc001ecn.2_Missense_Mutation_p.T442A|MOV10_uc001ecm.2_Missense_Mutation_p.T382A|MOV10_uc009wgj.1_Missense_Mutation_p.T382A	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	442					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GGATGGGCTGACCTTCAAGGT	0.597													G	113237103	A	G	113237103	3	3	15	1	0	0	0	0	1	0	0	0	9718	275	10	3	1354	3	MOV10	1	113237103	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1742499	113237103	136013518	42	11483											
PPM1J	333926	broad.mit.edu	37	chr1	113253964	113253964	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactctgcgggggaactcaaGgtgggtgaattcactgccta	13	9	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:113253964G>T	uc001ect.1	-	6	997	c.970C>A	c.(970-972)CTT>ATT	p.L324I	PPM1J_uc009wgl.1_RNA|PPM1J_uc001ecs.1_Missense_Mutation_p.L118I	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN	protein phosphatase 1J (PP2C domain containing)	324	PP2C-like.									breast(2)|central_nervous_system(1)	3	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGAACTCAAGGTGGGTGAAT	0.582													T	113253964	G	T	113253964	3	4	15	1	0	0	0	0	1	0	0	0	12342	1000	35	5	567	5	PPM1J	1	113253964	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	16861	113253964	135996657	43	11484											
BCL9	607	broad.mit.edu	37	chr1	147087679	147087680	+	Frame_Shift_Del	DEL	AC	AC	-													agaacatttctaacaacaagAcagagagaagcacagcgcct							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:147087679_147087680delAC	uc001epq.2	+	7	1377_1378	c.637_638delAC	c.(637-639)ACAfs	p.T213fs	BCL9_uc010ozr.1_Frame_Shift_Del_p.T139fs	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	213					Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					TAACAACAAGACAGAGAGAAGC	0.426			T	IGH@|IGL@	B-ALL								-	147087680	AC	-	147087679	7	5	15	1	0	1	0	1	0	0	0	0	1381	275	10	0	651	0	BCL9	1	147087679	Frame_Shift_Del	DEL	AC	TCGA-BR-4280-01A-01D-1126-08	33833715	147087679	102162942	44	11485											
OTUD7B	56957	broad.mit.edu	37	chr1	149916793	149916793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgttagccacagaatctgCtctcttcttgtccttctccc	5	14	4	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:149916793C>T	uc001etn.2	-	12	1851	c.1495G>A	c.(1495-1497)GCA>ACA	p.A499T		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	499					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			ACAGAATCTGCTCTCTTCTTG	0.552													T	149916793	C	T	149916793	3	4	15	1	0	0	0	0	1	0	0	0	11319	797	28	2	1040	2	OTUD7B	1	149916793	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2829114	149916793	99333828	45	11486											
ZNF687	57592	broad.mit.edu	37	chr1	151259991	151259991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtggccaccatccagaaCgccagtactgccatgctgat	9	15	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:151259991C>T	uc001exq.2	+	2	1322	c.1224C>T	c.(1222-1224)AAC>AAT	p.N408N	ZNF687_uc001exp.1_Silent_p.N417N|ZNF687_uc009wmo.2_Silent_p.N408N|ZNF687_uc009wmp.2_Silent_p.N408N	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCATCCAGAACGCCAGTACTG	0.582													T	151259991	C	T	151259991	2	4	15	1	0	0	0	0	0	0	0	1	18089	535	19	1		1	ZNF687	1	151259991	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1343198	151259991	97990630	46	11487											
TCHH	7062	broad.mit.edu	37	chr1	152082434	152082434	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgctcttcctcctgctGcagctcctcttccttccgat	6	18	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:152082434G>A	uc001ezp.2	-	2	3259	c.3259C>T	c.(3259-3261)CAG>TAG	p.Q1087*	TCHH_uc009wne.1_Nonsense_Mutation_p.Q1087*	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1087	10 X 30 AA tandem repeats.|4-7.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tcctcctgctgcagctcctct	0.174													A	152082434	G	A	152082434	4	1	15	1	0	0	0	0	0	1	0	0	15697	1328	46	2	2576	2	TCHH	1	152082434	Nonsense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	822443	152082434	97168187	47	11488											
HRNR	388697	broad.mit.edu	37	chr1	152188549	152188549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgctggaagaccaaccGgagccagacccatgttggcc	11	15	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:152188549G>A	uc001ezt.1	-	3	5632	c.5556C>T	c.(5554-5556)TCC>TCT	p.S1852S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1852	20.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGACCAACCGGAGCCAGACC	0.597													A	152188549	G	A	152188549	2	1	15	1	0	0	0	0	0	0	0	1	7359	1103	39	1		1	HRNR	1	152188549	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	106115	152188549	97062072	48	11489											
KCNN3	3782	broad.mit.edu	37	chr1	154698452	154698452	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctccgctttggtgagTtccagctttcgggccaccac	10	14	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:154698452T>A	uc001ffp.2	-	5	1955	c.1641A>T	c.(1639-1641)GAA>GAT	p.E547D	KCNN3_uc001ffo.2_Missense_Mutation_p.E242D	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	552						integral to membrane	calmodulin binding			lung(1)	1	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CTTTGGTGAGTTCCAGCTTTC	0.547													A	154698452	T	A	154698452	3	1	15	1	0	0	0	0	1	0	0	0	8080	1722	60	5	570	5	KCNN3	1	154698452	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	2509903	154698452	94552169	49	11490											
THBS3	7059	broad.mit.edu	37	chr1	155168382	155168382	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtccttggtgtcctgatgcCcatccccatcgctaatcaga	8	14	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:155168382C>A	uc001fix.2	-	17	1915	c.1892G>T	c.(1891-1893)GGG>GTG	p.G631V	RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Missense_Mutation_p.G622V|THBS3_uc001fiz.2_Missense_Mutation_p.G594V|THBS3_uc001fiy.2_Missense_Mutation_p.G160V|THBS3_uc010pfu.1_Missense_Mutation_p.G511V|THBS3_uc010pfv.1_RNA	NM_007112	NP_009043	P49746	TSP3_HUMAN	thrombospondin 3 precursor	631	TSP type-3 6.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(3)|ovary(2)	5	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTCCTGATGCCCATCCCCATC	0.512													A	155168382	C	A	155168382	3	1	15	1	0	0	0	0	1	0	0	0	15852	623	22	5	1006	5	THBS3	1	155168382	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	469930	155168382	94082239	50	11491											
HCN3	57657	broad.mit.edu	37	chr1	155255714	155255714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcagtgtgctggcccgcgGcgcccgggacacacgcctca	14	17	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:155255714G>A	uc001fjz.1	+	6	1444	c.1436G>A	c.(1435-1437)GGC>GAC	p.G479D	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Missense_Mutation_p.G174D	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	479	Cytoplasmic (Potential).|cAMP.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGGCCCGCGGCGCCCGGGAC	0.647													A	155255714	G	A	155255714	3	1	15	1	0	0	0	0	1	0	0	0	6998	1203	42	2	1458	2	HCN3	1	155255714	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	87332	155255714	93994907	51	11492											
HCN3	57657	broad.mit.edu	37	chr1	155257084	155257084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggagttccccatgatgcGccgggcctttgagactgtgg	15	10	0	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:155257084G>A	uc001fjz.1	+	7	1606	c.1598G>A	c.(1597-1599)CGC>CAC	p.R533H	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Missense_Mutation_p.R228H	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	533	Cytoplasmic (Potential).|cAMP.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCATGATGCGCCGGGCCTTT	0.617													A	155257084	G	A	155257084	3	1	15	1	0	0	0	0	1	0	0	0	6998	1087	38	1	1624	1	HCN3	1	155257084	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1370	155257084	93993537	52	11493											
FCRL4	83417	broad.mit.edu	37	chr1	157557696	157557696	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttgatctaaatacatcaTtctcgtctccatatccaatg	3	10	4	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:157557696T>C	uc001fqw.2	-	4	657	c.521A>G	c.(520-522)AAT>AGT	p.N174S	FCRL4_uc010phy.1_Intron	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	174	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)|skin(1)	4	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AAATACATCATTCTCGTCTCC	0.318													C	157557696	T	C	157557696	3	2	15	1	0	0	0	0	1	0	0	0	5797	1493	52	3	1062	3	FCRL4	1	157557696	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	2300612	157557696	91692925	53	11494											
CD5L	922	broad.mit.edu	37	chr1	157805724	157805724	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttcctgtgcaactgactgAttggatgaggaccttttgct	11	8	0	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:157805724A>G	uc001frk.3	-	3	420	c.277T>C	c.(277-279)TCA>CCA	p.S93P		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	93	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAACTGACTGATTGGATGAGG	0.493													G	157805724	A	G	157805724	3	3	15	1	0	0	0	0	1	0	0	0	3027	333	12	3	782	3	CD5L	1	157805724	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	248028	157805724	91444897	54	11495											
OR10T2	128360	broad.mit.edu	37	chr1	158368769	158368769	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacgcatgtcacaaatgAggttggtggccaccaaagca	10	9	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:158368769A>G	uc010pih.1	-	1	488	c.488T>C	c.(487-489)CTC>CCC	p.L163P		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T,	163	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					GTCACAAATGAGGTTGGTGGC	0.468													G	158368769	A	G	158368769	3	3	15	1	0	0	0	0	1	0	0	0	10919	304	11	3	458	3	OR10T2	1	158368769	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	563045	158368769	90881852	55	11496											
OR10T2	128360	broad.mit.edu	37	chr1	158368995	158368995	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagatggtcttggtgtctgAgagcaggtggaccagcagct	17	7	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:158368995A>G	uc010pih.1	-	1	262	c.262T>C	c.(262-264)TCA>CCA	p.S88P		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T,	88	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					TTGGTGTCTGAGAGCAGGTGG	0.498													G	158368995	A	G	158368995	3	3	15	1	0	0	0	0	1	0	0	0	10919	304	11	3	684	3	OR10T2	1	158368995	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	226	158368995	90881626	56	11497											
DARC	2532	broad.mit.edu	37	chr1	159176186	159176186	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcaccctcttgccctctctGcccctccctgaaggatggtc	8	19	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:159176186G>T	uc001fto.2	+	2	1197	c.957G>T	c.(955-957)CTG>CTT	p.L319L	DARC_uc001ftp.3_Silent_p.L321L	NM_002036	NP_002027	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform b	319	Cytoplasmic (Potential).				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			ovary(1)|lung(1)	2	all_hematologic(112;0.0429)					TGCCCTCTCTGCCCCTCCCTG	0.557													T	159176186	G	T	159176186	2	4	15	1	0	0	0	0	0	0	0	1	4240	1306	46	5		5	DARC	1	159176186	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	807191	159176186	90074435	57	11498											
IGSF9	57549	broad.mit.edu	37	chr1	159900128	159900128	+	Frame_Shift_Del	DEL	C	C	-													gggatcccaatgcaggagtaCcccccggggtgtcctcactg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:159900128delC	uc001fur.2	-	15	2113	c.1915delG	c.(1915-1917)GTAfs	p.V639fs	IGSF9_uc001fuq.2_Frame_Shift_Del_p.V623fs|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	639	Fibronectin type-III 2.|Extracellular (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCAGGAGTACCCCCCGGGGT	0.672													-	159900128	C	-	159900128	7	5	15	1	0	1	0	1	0	0	0	0	7605	507	18	0	1652	0	IGSF9	1	159900128	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	723942	159900128	89350493	58	11499											
FMO4	2329	broad.mit.edu	37	chr1	171310826	171310826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgattcctccaagcctGcctccatgtcacattattta	4	15	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:171310826G>A	uc001gho.2	+	10	1742	c.1525G>A	c.(1525-1527)GCC>ACC	p.A509T		NM_002022	NP_002013	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	509					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			kidney(2)|skin(1)	3	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTCCAAGCCTGCCTCCATGTC	0.453													A	171310826	G	A	171310826	3	1	15	1	0	0	0	0	1	0	0	0	5957	1319	46	2	1555	2	FMO4	1	171310826	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	11410698	171310826	77939795	59	11500											
TNN	63923	broad.mit.edu	37	chr1	175067511	175067511	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtgactgaccgggtgacagaGaatatggccacggtctcctg	14	10	1	4			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:175067511G>C	uc001gkl.1	+	9	2012	c.1899G>C	c.(1897-1899)GAG>GAC	p.E633D	TNN_uc010pmx.1_Missense_Mutation_p.E544D	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	633	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGGTGACAGAGAATATGGCCA	0.542													C	175067511	G	C	175067511	3	2	15	1	0	0	0	0	1	0	0	0	16320	933	33	5	1929	5	TNN	1	175067511	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	3756685	175067511	74183110	60	11501											
FAM5B	57795	broad.mit.edu	37	chr1	177250122	177250122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctgagagctggttcatgCctgtgaatgagggcagcttt	13	8	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:177250122C>T	uc001glf.2	+	8	2122	c.1810C>T	c.(1810-1812)CCT>TCT	p.P604S	FAM5B_uc001glg.2_Missense_Mutation_p.P499S	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	604						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						CTGGTTCATGCCTGTGAATGA	0.552													T	177250122	C	T	177250122	3	4	15	1	0	0	0	0	1	0	0	0	5593	739	26	2	1836	2	FAM5B	1	177250122	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2182611	177250122	72000499	61	11502											
CACNA1E	777	broad.mit.edu	37	chr1	181680124	181680124	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagagagagagtggagaacCgaagggctttcatgaagctg	16	5	1	5			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:181680124C>T	uc001gow.2	+	8	1255	c.1090C>T	c.(1090-1092)CGA>TGA	p.R364*	CACNA1E_uc009wxs.2_Nonsense_Mutation_p.R271*	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	364	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						AGTGGAGAACCGAAGGGCTTT	0.537													T	181680124	C	T	181680124	4	4	15	1	0	0	0	0	0	1	0	0	2542	644	23	1	1120	1	CACNA1E	1	181680124	Nonsense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	4430002	181680124	67570497	62	11503											
C1orf14	81626	broad.mit.edu	37	chr1	182908681	182908681	+	Frame_Shift_Del	DEL	A	A	-													gtctctccaaagaaagtcatAaaaaaacctacgataaacca							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:182908681delA	uc001gpu.2	-	4	1063	c.778delT	c.(778-780)TATfs	p.Y260fs	C1orf14_uc001gpv.2_Frame_Shift_Del_p.Y141fs|C1orf14_uc010pnz.1_Frame_Shift_Del_p.Y118fs|C1orf14_uc001gpw.2_5'UTR	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	332											0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)		AGAAAGTCATAAAAAAACCTA	0.308													-	182908681	A	-	182908681	7	5	15	1	0	1	0	1	0	0	0	0	2000	362	13	0	1211	0	C1orf14	1	182908681	Frame_Shift_Del	DEL	A	TCGA-BR-4280-01A-01D-1126-08	1228557	182908681	66341940	63	11504											
PRG4	10216	broad.mit.edu	37	chr1	186276875	186276875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaggcagcggctcccaAcacccctaaggagcctgctc	9	18	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:186276875A>G	uc001gru.3	+	7	2075	c.2024A>G	c.(2023-2025)AAC>AGC	p.N675S	PRG4_uc001grt.3_Missense_Mutation_p.N634S|PRG4_uc009wyl.2_Missense_Mutation_p.N582S|PRG4_uc009wym.2_Missense_Mutation_p.N541S|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	675	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						GCGGCTCCCAACACCCCTAAG	0.642													G	186276875	A	G	186276875	3	3	15	1	0	0	0	0	1	0	0	0	12481	43	2	3	2046	3	PRG4	1	186276875	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	3368194	186276875	62973746	64	11505											
PTPRC	5788	broad.mit.edu	37	chr1	198711490	198711490	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagatgcctgatggttcaAgtagaggtatgttctaacct	11	7	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:198711490A>G	uc001gur.1	+	25	2865	c.2685A>G	c.(2683-2685)CAA>CAG	p.Q895Q	PTPRC_uc001gus.1_Silent_p.Q847Q|PTPRC_uc001gut.1_Silent_p.Q734Q	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	895	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.	Substrate (By similarity).			axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						TGATGGTTCAAGTAGAGGTAT	0.363													G	198711490	A	G	198711490	2	3	15	1	0	0	0	0	0	0	0	1	12797	69	3	3		3	PTPRC	1	198711490	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	12434615	198711490	50539131	65	11506											
CAMSAP1L1	23271	broad.mit.edu	37	chr1	200822407	200822407	+	Frame_Shift_Del	DEL	A	A	-													ccatttgatttcttaggcgtAaaactgaggaagaacgtcag							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:200822407delA	uc001gvl.2	+	14	3910	c.3640delA	c.(3640-3642)AAAfs	p.K1214fs	CAMSAP1L1_uc001gvk.2_Frame_Shift_Del_p.K1203fs|CAMSAP1L1_uc001gvm.2_Frame_Shift_Del_p.K1187fs	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	1214						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TCTTAGGCGTAAAACTGAGGA	0.363													-	200822407	A	-	200822407	7	5	15	1	0	1	0	1	0	0	0	0	2612	363	13	0	3657	0	CAMSAP1L1	1	200822407	Frame_Shift_Del	DEL	A	TCGA-BR-4280-01A-01D-1126-08	2110917	200822407	48428214	66	11507											
FMOD	2331	broad.mit.edu	37	chr1	203316677	203316677	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcaagagctgagggcagcCcatcaggcaccttccgaagg	13	13	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:203316677C>A	uc001gzr.2	-	2	858	c.722G>T	c.(721-723)GGG>GTG	p.G241V	FMOD_uc010pqi.1_RNA	NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	241	LRR 6.				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.171)			TGAGGGCAGCCCATCAGGCAC	0.572													A	203316677	C	A	203316677	3	1	15	1	0	0	0	0	1	0	0	0	5959	623	22	5	416	5	FMOD	1	203316677	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2494270	203316677	45933944	67	11508											
GOLT1A	127845	broad.mit.edu	37	chr1	204168355	204168355	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggatgttgcagacattgcCcaggaagccgaaggcgacag	16	9	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:204168355C>A	uc001has.1	-	4	514	c.328G>T	c.(328-330)GGC>TGC	p.G110C	KISS1_uc001har.2_5'Flank|GOLT1A_uc001hat.1_Missense_Mutation_p.G110C	NM_198447	NP_940849	Q6ZVE7	GOT1A_HUMAN	golgi transport 1 homolog A	110	Helical; Name=4; (Potential).				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane					0	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CAGACATTGCCCAGGAAGCCG	0.632													A	204168355	C	A	204168355	3	1	15	1	0	0	0	0	1	0	0	0	6570	623	22	5	78	5	GOLT1A	1	204168355	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	851678	204168355	45082266	68	11509											
LRRN2	10446	broad.mit.edu	37	chr1	204588803	204588803	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatcacagtctcgggcatcCgaaaagctgttctgggacag	11	10	3	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:204588803C>T	uc001hbe.1	-	3	706	c.318G>A	c.(316-318)TCG>TCA	p.S106S	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Silent_p.S106S|LRRN2_uc009xbf.1_Silent_p.S106S|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	106	LRR 2.|Extracellular (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTCGGGCATCCGAAAAGCTGT	0.607													T	204588803	C	T	204588803	2	4	15	1	0	0	0	0	0	0	0	1	9035	639	23	1		1	LRRN2	1	204588803	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	420448	204588803	44661818	69	11510											
TMCC2	9911	broad.mit.edu	37	chr1	205238824	205238824	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactctggggctgggcctggTggggcgctggggagccctaa	19	10	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:205238824T>G	uc001hbz.1	+	4	1938	c.1494T>G	c.(1492-1494)GGT>GGG	p.G498G	TMCC2_uc010prf.1_Silent_p.G420G|TMCC2_uc001hca.2_Silent_p.G273G|TMCC2_uc001hcb.1_Silent_p.G258G|TMCC2_uc001hcc.1_Silent_p.G119G|TMCC2_uc001hcd.2_Silent_p.G265G	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	498						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CTGGGCCTGGTGGGGCGCTGG	0.632													G	205238824	T	G	205238824	2	3	15	1	0	0	0	0	0	0	0	1	15990	1683	59	5		5	TMCC2	1	205238824	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	650021	205238824	44011797	70	11511											
TMCC2	9911	broad.mit.edu	37	chr1	205241213	205241213	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctggaagcactgggactcCctcacctacctcctggagca	9	16	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:205241213C>T	uc001hbz.1	+	6	2535	c.2091C>T	c.(2089-2091)TCC>TCT	p.S697S	TMCC2_uc010prf.1_Silent_p.S619S|TMCC2_uc001hca.2_Silent_p.S472S|TMCC2_uc001hcb.1_Silent_p.S457S|TMCC2_uc001hcc.1_Silent_p.S318S|TMCC2_uc001hcd.2_3'UTR	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	697	Helical; (Potential).					integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACTGGGACTCCCTCACCTACC	0.632													T	205241213	C	T	205241213	2	4	15	1	0	0	0	0	0	0	0	1	15990	610	22	4		4	TMCC2	1	205241213	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2389	205241213	44009408	71	11512											
PFKFB2	5208	broad.mit.edu	37	chr1	207241006	207241007	+	Frame_Shift_Ins	INS	-	-	G													aaagcgagttcaatctcttgINSgggaagattgggggtgactc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:207241005_207241006T>TG	uc001hfg.3	+	8	903_904	c.794_795T>TG	c.(793-795)ttgfs	p.L265fs	PFKFB2_uc010psc.2_Frame_Shift_Ins_p.L167fs|PFKFB2_uc001hfh.3_Frame_Shift_Ins_p.L265fs|PFKFB2_uc009xcc.3_Frame_Shift_Ins_p.L223fs|PFKFB2_uc010psd.2_Frame_Shift_Ins_p.L79fs	NM_006212	NP_006203	O60825	F262_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 (PFKFB2), transcript variant 1, mRNA.	265	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	p.L265F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TTCAATCTCTTGGGGAAGATTG	0.495													G	207241007	-	G	207241006	7	5	15	1	0	1	1	0	0	0	0	0	11761	1339	47	0	825	0	PFKFB2	1	207241006	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	1999793	207241006	42009615	72	11513											
CR1	1378	broad.mit.edu	37	chr1	207787831	207787831	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atagcagtgttccagtgtgtGaacgtgagtagaaagaacta	12	5	0	4			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:207787831G>T	uc001hfy.2	+	32	5448	c.5308G>T	c.(5308-5310)GAA>TAA	p.E1770*	CR1_uc001hfx.2_Nonsense_Mutation_p.E2220*	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1770	Extracellular (Potential).|Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TCCAGTGTGTGAACGTGAGTA	0.408													T	207787831	G	T	207787831	4	4	15	1	0	0	0	0	0	1	0	0	3840	1291	45	5	6816	5	CR1	1	207787831	Nonsense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	546825	207787831	41462790	73	11514											
CENPF	1063	broad.mit.edu	37	chr1	214832209	214832209	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttagggtttgctgacatcccGacaggaaagactagcccata	10	10	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:214832209G>A	uc001hkm.2	+	19	9153	c.8979G>A	c.(8977-8979)CCG>CCA	p.P2993P		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	3089	Sufficient for nuclear localization.|Sufficient for centromere localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTGACATCCCGACAGGAAAGA	0.478											OREG0014250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	214832209	G	A	214832209	2	1	15	1	0	0	0	0	0	0	0	1	3231	1045	37	1		1	CENPF	1	214832209	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	7044378	214832209	34418412	74	11515											
USH2A	7399	broad.mit.edu	37	chr1	215916618	215916618	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacggagaaggccagaggtgTtacacttccatcattgagta	11	8	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:215916618T>G	uc001hku.1	-	59	11836	c.11449A>C	c.(11449-11451)ACA>CCA	p.T3817P		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3817	Fibronectin type-III 23.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCAGAGGTGTTACACTTCCA	0.408										HNSCC(13;0.011)			G	215916618	T	G	215916618	3	3	15	1	0	0	0	0	1	0	0	0	17033	1725	60	5	4215	5	USH2A	1	215916618	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	1084409	215916618	33334003	75	11516											
USH2A	7399	broad.mit.edu	37	chr1	216595572	216595572	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttctccagccttgggaaaAgacctcgtgactcagtcaag	10	12	3	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:216595572A>C	uc001hku.1	-	2	494	c.107T>G	c.(106-108)CTT>CGT	p.L36R	USH2A_uc001hkv.2_Missense_Mutation_p.L36R	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	36	Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTTGGGAAAAGACCTCGTGA	0.468										HNSCC(13;0.011)			C	216595572	A	C	216595572	3	2	15	1	0	0	0	0	1	0	0	0	17033	72	3	5	15799	5	USH2A	1	216595572	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	678954	216595572	32655049	76	11517											
LEFTY2	7044	broad.mit.edu	37	chr1	226125285	226125285	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggcagcgaggcagtctcCgaggcgatacactgtcgcgg	16	11	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:226125285C>T	uc001hpt.1	-	4	1037	c.957G>A	c.(955-957)TCG>TCA	p.S319S	LEFTY2_uc010pvk.1_Silent_p.S285S|LEFTY2_uc009xek.1_3'UTR	NM_003240	NP_003231	O00292	LFTY2_HUMAN	endometrial bleeding associated factor	319					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding				0	Breast(184;0.197)					AGGCAGTCTCCGAGGCGATAC	0.647													T	226125285	C	T	226125285	2	4	15	1	0	0	0	0	0	0	0	1	8716	639	23	1		1	LEFTY2	1	226125285	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	9529713	226125285	23125336	77	11518											
CABC1	56997	broad.mit.edu	37	chr1	227174190	227174190	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttggatgccatcctcatcCtgggggaggccttcgcctct	11	14	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:227174190C>A	uc001hqm.1	+	20	5115	c.1696C>A	c.(1696-1698)CTG>ATG	p.L566M	CABC1_uc001hqn.1_Missense_Mutation_p.L566M|CABC1_uc009xeq.1_Missense_Mutation_p.L514M|CABC1_uc010pvq.1_Missense_Mutation_p.L287M|CABC1_uc010pvr.1_Missense_Mutation_p.L240M|CABC1_uc001hqo.1_Missense_Mutation_p.L287M|CABC1_uc009xer.1_Missense_Mutation_p.L82M	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	566					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				CATCCTCATCCTGGGGGAGGC	0.587													A	227174190	C	A	227174190	3	1	15	1	0	0	0	0	1	0	0	0	2527	680	24	5	1750	5	CABC1	1	227174190	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1048905	227174190	22076431	78	11519											
JMJD4	65094	broad.mit.edu	37	chr1	227920624	227920624	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatggagtccctccactcGctgacctcctcctgcacggc	10	18	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:227920624G>A	uc001hrb.2	-	5	1065	c.1065C>T	c.(1063-1065)AGC>AGT	p.S355S	SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_5'Flank|SNAP47_uc001hre.2_5'Flank|SNAP47_uc001hrf.2_5'Flank|LOC100130093_uc001hqx.3_RNA|LOC100130093_uc001hqy.3_RNA|JMJD4_uc001hrc.2_Intron	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4 isoform 1	355											0		Prostate(94;0.0885)				CCCTCCACTCGCTGACCTCCT	0.612													A	227920624	G	A	227920624	2	1	15	1	0	0	0	0	0	0	0	1	7951	1078	38	1		1	JMJD4	1	227920624	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	746434	227920624	21329997	79	11520											
C1orf124	83932	broad.mit.edu	37	chr1	231488894	231488895	+	Frame_Shift_Ins	INS	-	-	T													ataagactgtttttgacaatINSttttttatcaagaaagagca							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:231488893_231488894A>AT	uc001hur.3	+	4	1704_1705	c.1256_1257A>AT	c.(1255-1257)aatfs	p.N419fs	C1orf124_uc001hus.3_3'UTR|C1orf124_uc001hut.3_3'UTR	NM_032018	NP_114407	Q9H040	CA124_HUMAN	Homo sapiens chromosome 1 open reading frame 124 (C1orf124), transcript variant 1, mRNA.	419					DNA repair	nuclear speck	DNA binding|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GTTTTTGACAATTTTTTTATCA	0.396													T	231488895	-	T	231488894	7	5	15	1	0	1	1	0	0	0	0	0	1992	1490	52	0	1310	0	C1orf124	1	231488894	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	3568270	231488894	17761727	80	11521											
LYST	1130	broad.mit.edu	37	chr1	235914579	235914579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactggagtgaatctgtgaGgttttcagagtcatgatttg	13	4	3	5			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:235914579G>A	uc001hxj.2	-	28	7886	c.7711C>T	c.(7711-7713)CTC>TTC	p.L2571F	LYST_uc009xga.1_Missense_Mutation_p.L153F	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2571					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GAATCTGTGAGGTTTTCAGAG	0.413									Chediak-Higashi_syndrome				A	235914579	G	A	235914579	3	1	15	1	0	0	0	0	1	0	0	0	9128	1000	35	4	3798	4	LYST	1	235914579	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	4425685	235914579	13336042	81	11522											
OR2W3	343171	broad.mit.edu	37	chr1	248059733	248059733	+	Frame_Shift_Del	DEL	C	C	-													gctcttctacaacattgtcaCccccctcctcaatcctctca							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:248059732_248059732AC>A	uc010pzb.2	+	0	844	c.844_844AC>A	c.(844-846)accfs	p.T282fs	OR2W3_uc001idp.1_Frame_Shift_Del_p.T282fs	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAACATTGTCACCCCCCTCCT	0.512													-	248059733	C	-	248059733	7	5	15	1	0	1	0	1	0	0	0	0	11033	507	18	0	847	0	OR2W3	1	248059733	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	12145154	248059733	1190888	82	11523											
OR2L3	391192	broad.mit.edu	37	chr1	248224181	248224181	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcctacttagtcagctctcCctcattgacctaaattacat	3	13	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:248224181C>A	uc001idx.1	+	1	198	c.198C>A	c.(196-198)TCC>TCA	p.S66S	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	66	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GTCAGCTCTCCCTCATTGACC	0.423													A	248224181	C	A	248224181	2	1	15	1	0	0	0	0	0	0	0	1	11008	610	22	5		5	OR2L3	1	248224181	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	164448	248224181	1026440	83	11524											
OR2L13	284521	broad.mit.edu	37	chr1	248263381	248263381	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaaggaggggagaaaaaAggccttcaccaccatttcaa	9	10	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr1:248263381A>G	uc001ids.2	+	3	1041	c.704A>G	c.(703-705)AAG>AGG	p.K235R		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GGGAGAAAAAAGGCCTTCACC	0.453													G	248263381	A	G	248263381	3	3	15	1	0	0	0	0	1	0	0	0	11006	72	3	3	706	3	OR2L13	1	248263381	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	39200	248263381	987240	84	11525											
PXDN	7837	broad.mit.edu	37	chr2	1647304	1647304	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgacgtctgcttgatctgaGtcagctgggccggggagaac	16	10	3	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:1647304G>C	uc002qxa.2	-	19	3852	c.3788C>G	c.(3787-3789)ACT>AGT	p.T1263S		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1263					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTTGATCTGAGTCAGCTGGGC	0.592													C	1647304	G	C	1647304	3	2	15	1	0	0	0	0	1	0	0	0	12847	1029	36	5	671	5	PXDN	2	1647304	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08		1647304	241552069	85	11526											
GREB1	9687	broad.mit.edu	37	chr2	11755363	11755363	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacgaggccttggagagtgAtgctgagaagctgagcagca	16	7	0	4			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:11755363A>G	uc002rbk.1	+	20	3569	c.3269A>G	c.(3268-3270)GAT>GGT	p.D1090G	GREB1_uc002rbp.1_Missense_Mutation_p.D88G	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1090						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TTGGAGAGTGATGCTGAGAAG	0.582													G	11755363	A	G	11755363	3	3	15	1	0	0	0	0	1	0	0	0	6760	333	12	3	3451	3	GREB1	2	11755363	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	10108059	11755363	231444010	86	11527											
GEN1	348654	broad.mit.edu	37	chr2	17962826	17962826	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatagtagaaaagttgatAtgcaaaccactcggaaaatt	7	6	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:17962826A>G	uc002rct.2	+	14	2420	c.2347A>G	c.(2347-2349)ATG>GTG	p.M783V	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.M783V|GEN1_uc002rcu.2_Missense_Mutation_p.M783V	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	783					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAAAGTTGATATGCAAACCAC	0.393								Homologous_recombination					G	17962826	A	G	17962826	3	3	15	1	0	0	0	0	1	0	0	0	6335	449	16	3	2397	3	GEN1	2	17962826	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	6207463	17962826	225236547	87	11528											
ITSN2	50618	broad.mit.edu	37	chr2	24484599	24484599	+	Frame_Shift_Del	DEL	T	T	-													ccaaccaggttctcctacggTtttttcatcaacctacggaa							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:24484598_24484598GT>G	uc002rfe.2	-	20	2627	c.2369_2369AC>C	c.(2368-2370)accfs	p.T790fs	ITSN2_uc002rff.2_Frame_Shift_Del_p.T763fs|ITSN2_uc002rfg.3_Frame_Shift_Del_p.T790fs	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	790	SH3 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding	p.T789fs*11(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTCCTACGGTTTTTTCATC	0.328													-	24484599	T	-	24484599	7	5	15	1	0	1	0	1	0	0	0	0	7927	1725	60	0	2856	0	ITSN2	2	24484599	Frame_Shift_Del	DEL	T	TCGA-BR-4280-01A-01D-1126-08	6521773	24484599	218714774	88	11529											
DPYSL5	56896	broad.mit.edu	37	chr2	27157527	27157527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaggactggtcccacgCggctgcctatgtcacggtgc	12	16	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:27157527C>T	uc002rhu.3	+	8	1030	c.872C>T	c.(871-873)GCG>GTG	p.A291V	DPYSL5_uc002rhv.3_Missense_Mutation_p.A291V	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	291					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGTCCCACGCGGCTGCCTAT	0.582													T	27157527	C	T	27157527	3	4	15	1	0	0	0	0	1	0	0	0	4750	768	27	1	898	1	DPYSL5	2	27157527	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2672928	27157527	216041846	89	11530											
ABHD1	84696	broad.mit.edu	37	chr2	27351926	27351926	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattgtgctgctgcttcctgGcatcactggcagtagccagg	12	12	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:27351926G>T	uc002rit.2	+	3	549	c.389G>T	c.(388-390)GGC>GTC	p.G130V	ABHD1_uc002riu.2_RNA|ABHD1_uc002riv.2_RNA	NM_032604	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain-containing protein 1	130						integral to membrane	carboxylesterase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCTTCCTGGCATCACTGGC	0.577													T	27351926	G	T	27351926	3	4	15	1	0	0	0	0	1	0	0	0	73	1203	42	5	399	5	ABHD1	2	27351926	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	194399	27351926	215847447	90	11531											
WDR43	23160	broad.mit.edu	37	chr2	29135551	29135551	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgaacaatcaaactatgggTtttggagaccaaagaagtct	9	7	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:29135551T>G	uc002rmo.2	+	4	613	c.581T>G	c.(580-582)GTT>GGT	p.V194G	SNORD92_uc002rmp.1_5'Flank	NM_015131	NP_055946	Q15061	WDR43_HUMAN	WD repeat domain 43	194	WD 4.					nucleolus				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					AAACTATGGGTTTTGGAGACC	0.388													G	29135551	T	G	29135551	3	3	15	1	0	0	0	0	1	0	0	0	17292	1725	60	5	595	5	WDR43	2	29135551	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	1783625	29135551	214063822	91	11532											
C2orf71	388939	broad.mit.edu	37	chr2	29293519	29293519	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtccaaggtgggaggctgCggtcggccacctggctggcg	20	11	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:29293519C>T	uc002rmt.1	-	1	3609	c.3609G>A	c.(3607-3609)CCG>CCA	p.P1203P		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	1203					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						TGGGAGGCTGCGGTCGGCCAC	0.632													T	29293519	C	T	29293519	2	4	15	1	0	0	0	0	0	0	0	1	2191	755	27	1		1	C2orf71	2	29293519	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	157968	29293519	213905854	92	11533											
CEBPZ	10153	broad.mit.edu	37	chr2	37455474	37455474	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gataagcaactctttgaaagTatccaaggccataaggcact	8	9	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:37455474T>C	uc002rpz.2	-	2	892	c.862A>G	c.(862-864)ACT>GCT	p.T288A		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	288					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				TCTTTGAAAGTATCCAAGGCC	0.443													C	37455474	T	C	37455474	3	2	15	1	0	0	0	0	1	0	0	0	3204	1638	57	3	2362	3	CEBPZ	2	37455474	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	8161955	37455474	205743899	93	11534											
SFRS7	6432	broad.mit.edu	37	chr2	38977264	38977264	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atacagttcttaaaggaccaTaataactgaaagccctttct	5	9	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:38977264T>C	uc002rqz.2	-	2	339	c.101A>G	c.(100-102)TAT>TGT	p.Y34C	SFRS7_uc002rra.2_RNA|SFRS7_uc010ynp.1_Missense_Mutation_p.Y34C|GEMIN6_uc002rrb.2_5'Flank	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN	splicing factor, arginine/serine-rich 7	34	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding				0		all_hematologic(82;0.248)				TAAAGGACCATAATAACTGAA	0.433													C	38977264	T	C	38977264	3	2	15	1	0	0	0	0	1	0	0	0	14182	1406	49	3	643	3	SFRS7	2	38977264	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	1521790	38977264	204222109	94	11535											
THUMPD2	80745	broad.mit.edu	37	chr2	39996850	39996850	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actttaggatgcaagcatacCtgtgcagtgaaggcctttcc	10	10	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:39996850C>A	uc002rru.2	-	3	709	c.672G>T	c.(670-672)CAG>CAT	p.Q224H	THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Intron|THUMPD2_uc010ynu.1_Missense_Mutation_p.Q224H	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	224	THUMP.						methyltransferase activity			skin(1)	1		all_hematologic(82;0.248)				GCAAGCATACCTGTGCAGTGA	0.259													A	39996850	C	A	39996850	3	1	15	1	0	0	0	0	1	0	0	0	15880	695	24	5	871	5	THUMPD2	2	39996850	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1019586	39996850	203202523	95	11536											
PKDCC	91461	broad.mit.edu	37	chr2	42284800	42284800	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggtccctgatcccaacaAgaccacatatgtgaaggcct	9	12	0	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:42284800A>G	uc002rsg.2	+	7	1633	c.1454A>G	c.(1453-1455)AAG>AGG	p.K485R		NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN	protein kinase-like protein SgK493	485	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(1)	1						GATCCCAACAAGACCACATAT	0.572													G	42284800	A	G	42284800	3	3	15	1	0	0	0	0	1	0	0	0	11969	72	3	3	1480	3	PKDCC	2	42284800	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	2287950	42284800	200914573	96	11537											
EML4	27436	broad.mit.edu	37	chr2	42513521	42513521	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggatttttcaaaagcagTaagtaacaatttttagagaa	7	5	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:42513521T>C	uc002rsi.2	+	10	1384	c.1122_splice	c.e10+2	p.A374_splice	EML4_uc010fap.2_Splice_Site_p.A316_splice|EML4_uc002rsj.2_Splice_Site_p.A63_splice	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4						microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(246)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						TCAAAAGCAGTAAGTAACAAT	0.403			T	ALK	NSCLC								C	42513521	T	C	42513521	5	2	15	1	0	0	0	0	0	0	1	0	5099	1652	57	3	1162	3	EML4	2	42513521	Splice_Site	SNP	T	TCGA-BR-4280-01A-01D-1126-08	228721	42513521	200685852	97	11538											
PAPOLG	64895	broad.mit.edu	37	chr2	61022147	61022147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaactattgatacatcaCgcaaaaaggtaacaagatag	6	8	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:61022147C>T	uc002sai.2	+	21	2335	c.2104C>T	c.(2104-2106)CGC>TGC	p.R702C	PAPOLG_uc002saj.2_Missense_Mutation_p.R391C|PAPOLG_uc002sak.2_Missense_Mutation_p.R237C|PAPOLG_uc010fch.2_Missense_Mutation_p.R369C	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	702					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TGATACATCACGCAAAAAGGT	0.308													T	61022147	C	T	61022147	3	4	15	1	0	0	0	0	1	0	0	0	11431	536	19	1	2186	1	PAPOLG	2	61022147	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	18508626	61022147	182177226	98	11539											
XPO1	7514	broad.mit.edu	37	chr2	61721063	61721063	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaaatatagctgtctcctgGgaggaacatcaaaatgttga	10	7	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:61721063G>T	uc002sbj.2	-	12	1939	c.1211C>A	c.(1210-1212)CCC>CAC	p.P404H	XPO1_uc010fcl.2_Missense_Mutation_p.P400H|XPO1_uc010ypn.1_Missense_Mutation_p.P400H|XPO1_uc002sbk.2_5'UTR|XPO1_uc002sbh.2_Missense_Mutation_p.P51H	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	404	HEAT 3.|Necessary for HTLV-1 Rex-mediated mRNA export.|Interaction with Ran and nuclear export complex formation.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CTGTCTCCTGGGAGGAACATC	0.433													T	61721063	G	T	61721063	3	4	15	1	0	0	0	0	1	0	0	0	17442	1232	43	5	2060	5	XPO1	2	61721063	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	698916	61721063	181478310	99	11540											
PELI1	57162	broad.mit.edu	37	chr2	64327600	64327600	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcccgagataaagtatAtgatatgctatgctggtctt	11	7	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:64327600A>G	uc002scs.3	-	3	4274	c.235T>C	c.(235-237)TAT>CAT	p.Y79H	PELI1_uc002sct.3_Missense_Mutation_p.Y79H|PELI1_uc002scr.3_5'Flank	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	pellino protein	79					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				ovary(1)	1						GATAAAGTATATGATATGCTA	0.338													G	64327600	A	G	64327600	3	3	15	1	0	0	0	0	1	0	0	0	11721	449	16	3	1037	3	PELI1	2	64327600	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	2606537	64327600	178871773	100	11541											
MPHOSPH10	10199	broad.mit.edu	37	chr2	71377061	71377061	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctaaattacaagatcaagtAaaaatgcaaatcaatgatgc	5	6	3	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:71377061A>G	uc002sht.1	+	11	2314	c.1962A>G	c.(1960-1962)GTA>GTG	p.V654V		NM_005791	NP_005782	O00566	MPP10_HUMAN	M-phase phosphoprotein 10	654	Potential.				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			skin(2)|ovary(1)	3						AAGATCAAGTAAAAATGCAAA	0.289													G	71377061	A	G	71377061	2	3	15	1	0	0	0	0	0	0	0	1	9725	349	13	3		3	MPHOSPH10	2	71377061	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	7049461	71377061	171822312	101	11542											
ALMS1	7840	broad.mit.edu	37	chr2	73678505	73678505	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaggacctttaggttcCagtgcacttggagagaagcc	12	11	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:73678505C>T	uc002sje.1	+	10	4965	c.4854C>T	c.(4852-4854)TCC>TCT	p.S1618S	ALMS1_uc002sjf.1_Silent_p.S1574S|ALMS1_uc002sjg.2_Silent_p.S1004S|ALMS1_uc002sjh.1_Silent_p.S1004S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1616	23.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						CTTTAGGTTCCAGTGCACTTG	0.468													T	73678505	C	T	73678505	2	4	15	1	0	0	0	0	0	0	0	1	535	581	21	4		4	ALMS1	2	73678505	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2301444	73678505	169520868	102	11543											
LOXL3	84695	broad.mit.edu	37	chr2	74776634	74776634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacttccaccagcccctccGtcacgggcaggggtcgtctg	12	16	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:74776634G>A	uc002smp.1	-	4	626	c.554C>T	c.(553-555)ACG>ATG	p.T185M	LOXL3_uc002smo.1_Translation_Start_Site|LOXL3_uc010ffm.1_Missense_Mutation_p.T185M|LOXL3_uc002smq.1_Intron|LOXL3_uc010ffn.1_Intron|DOK1_uc002smr.2_Intron	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	185	SRCR 2.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0						CAGCCCCTCCGTCACGGGCAG	0.672													A	74776634	G	A	74776634	3	1	15	1	0	0	0	0	1	0	0	0	8901	1145	40	1	1751	1	LOXL3	2	74776634	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1098129	74776634	168422739	103	11544											
POLR1A	25885	broad.mit.edu	37	chr2	86315957	86315957	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtgccttccagaagagagCaatgagcttgctcttgctct	10	10	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:86315957C>A	uc002sqs.2	-	5	956	c.577G>T	c.(577-579)GCT>TCT	p.A193S	POLR1A_uc002sqv.2_Missense_Mutation_p.A193S	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	193					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						CAGAAGAGAGCAATGAGCTTG	0.453													A	86315957	C	A	86315957	3	1	15	1	0	0	0	0	1	0	0	0	12209	710	25	5	4705	5	POLR1A	2	86315957	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	11539323	86315957	156883416	104	11545											
ARID5A	10865	broad.mit.edu	37	chr2	97217702	97217702	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtggggccaaacctgcAgggtccggcctggtctcctg	15	12	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:97217702A>C	uc002swe.2	+	7	1537	c.1437A>C	c.(1435-1437)GCA>GCC	p.A479A	ARID5A_uc010yuq.1_Silent_p.A427A|ARID5A_uc002swf.2_Silent_p.A315A|ARID5A_uc002swg.2_Silent_p.A427A	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A	479					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding				0						CCAAACCTGCAGGGTCCGGCC	0.657													C	97217702	A	C	97217702	2	2	15	1	0	0	0	0	0	0	0	1	921	175	7	5		5	ARID5A	2	97217702	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	10901745	97217702	145981671	105	11546											
CHST10	9486	broad.mit.edu	37	chr2	101010201	101010201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatgcagaaataagtctttCgaagggatctcttacaataa	7	6	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:101010201C>T	uc002tam.2	-	7	936	c.577G>A	c.(577-579)GAA>AAA	p.E193K		NM_004854	NP_004845	O43529	CHSTA_HUMAN	HNK-1 sulfotransferase	193	PAPS (Probable).|Lumenal (Potential).				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				ovary(1)	1						ATAAGTCTTTCGAAGGGATCT	0.393													T	101010201	C	T	101010201	3	4	15	1	0	0	0	0	1	0	0	0	3398	893	31	1	497	1	CHST10	2	101010201	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	3792499	101010201	142189172	106	11547											
TBC1D8	11138	broad.mit.edu	37	chr2	101656720	101656720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtcagaggcgaacatccGccccgtggtgtgacagcgac	14	13	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:101656720G>A	uc010fiv.2	-	6	1086	c.955C>T	c.(955-957)CGG>TGG	p.R319W	TBC1D8_uc010yvw.1_Missense_Mutation_p.R334W|TBC1D8_uc002tau.3_Missense_Mutation_p.R76W	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	319	GRAM 2.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3						GCGAACATCCGCCCCGTGGTG	0.572													A	101656720	G	A	101656720	3	1	15	1	0	0	0	0	1	0	0	0	15622	1086	38	1	2527	1	TBC1D8	2	101656720	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	646519	101656720	141542653	107	11548											
RANBP2	5903	broad.mit.edu	37	chr2	109400209	109400209	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaatttgttataacacTgaagaaagcagaacatttgg	7	6	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:109400209T>C	uc002tem.3	+	29	9653	c.9527T>C	c.(9526-9528)CTG>CCG	p.L3176P		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	3176	PPIase cyclophilin-type.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						GTTATAACACTGAAGAAAGCA	0.348													C	109400209	T	C	109400209	3	2	15	1	0	0	0	0	1	0	0	0	13028	1580	55	3	9641	3	RANBP2	2	109400209	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	7743489	109400209	133799164	108	11549											
SEPT10	151011	broad.mit.edu	37	chr2	110332309	110332309	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttggagataggcctcaAactgagcatctatgtagtca	9	9	4	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:110332309A>G	uc002tew.2	-	5	828	c.449T>C	c.(448-450)TTT>TCT	p.F150S	SEPT10_uc010ywu.1_Intron|SEPT10_uc002tex.2_Missense_Mutation_p.F127S|SEPT10_uc002tey.2_Missense_Mutation_p.F150S|SEPT10_uc010ywv.1_Missense_Mutation_p.F16S|SEPT10_uc002tev.1_5'UTR|SEPT10_uc010fjo.2_RNA	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN	septin 10 isoform 1	150					cell cycle|cell division	septin complex	GTP binding				0						ATAGGCCTCAAACTGAGCATC	0.378													G	110332309	A	G	110332309	3	3	15	1	0	0	0	0	1	0	0	0	14060	14	1	3	943	3	SEPT10	2	110332309	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	932100	110332309	132867064	109	11550											
SLC20A1	6574	broad.mit.edu	37	chr2	113416441	113416442	+	Frame_Shift_Ins	INS	-	-	A													tctgaaagccccttaatggaINSaaaaaagaatagcttgaaag							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:113416440_113416441G>GA	uc002tib.3	+	6	1356_1357	c.817_818G>GA	c.(817-819)gaafs	p.E273fs	SLC20A1_uc002tic.1_Frame_Shift_Ins_p.E85fs	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	273					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						CCCCTTAATGGAAAAAAAGAAT	0.411													A	113416442	-	A	113416441	7	5	15	1	0	1	1	0	0	0	0	0	14438	246	9	0	840	0	SLC20A1	2	113416441	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	3084132	113416441	129782932	110	11551											
MAP3K2	10746	broad.mit.edu	37	chr2	128065338	128065338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcaaattcagcccaaggCggcttttcagttagcatttc	8	11	3	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:128065338C>T	uc002toj.1	-	16	1742	c.1677G>A	c.(1675-1677)CCG>CCA	p.P559P		NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase	559	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		CAGCCCAAGGCGGCTTTTCAG	0.408													T	128065338	C	T	128065338	2	4	15	1	0	0	0	0	0	0	0	1	9250	755	27	1		1	MAP3K2	2	128065338	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	14648897	128065338	115134035	111	11552											
WDR33	55339	broad.mit.edu	37	chr2	128477098	128477098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggaggcccctgcatgcctCggatctcctgaggacctctc	12	15	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:128477098C>T	uc002tpg.1	-	16	2684	c.2501G>A	c.(2500-2502)CGA>CAA	p.R834Q		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	834					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTGCATGCCTCGGATCTCCTG	0.627													T	128477098	C	T	128477098	3	4	15	1	0	0	0	0	1	0	0	0	17284	884	31	1	1537	1	WDR33	2	128477098	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	411760	128477098	114722275	112	11553											
POTEF	728378	broad.mit.edu	37	chr2	130832662	130832662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcctcgggagccacacGcagctcgttgtagaaggtgt	14	11	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:130832662G>A	uc010fmh.2	-	17	2783	c.2383C>T	c.(2383-2385)CGT>TGT	p.R795C		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	795	Actin-like.					cell cortex	ATP binding			skin(3)|ovary(2)	5						GGAGCCACACGCAGCTCGTTG	0.567													A	130832662	G	A	130832662	3	1	15	1	0	0	0	0	1	0	0	0	12265	1087	38	1	848	1	POTEF	2	130832662	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	2355564	130832662	112366711	113	11554											
ARHGEF4	50649	broad.mit.edu	37	chr2	131803636	131803636	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccggccctgctacctgacGcgccagaagcacccagccct	11	19	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:131803636G>A	uc002tsa.1	+	14	2467	c.1947G>A	c.(1945-1947)ACG>ACA	p.T649T	ARHGEF4_uc010fmw.1_Silent_p.T797T|ARHGEF4_uc002tsb.1_3'UTR|ARHGEF4_uc010fmx.1_Silent_p.T589T|ARHGEF4_uc002tsc.1_Silent_p.T192T	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	649					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GCTACCTGACGCGCCAGAAGC	0.667													A	131803636	G	A	131803636	2	1	15	1	0	0	0	0	0	0	0	1	908	1074	38	1		1	ARHGEF4	2	131803636	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	970974	131803636	111395737	114	11555											
PLEKHB2	55041	broad.mit.edu	37	chr2	131890528	131890528	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatccgtggtttcctcaccTccaccatacacggcctatgc	6	17	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:131890528T>C	uc002tsg.3	+	6	947	c.387T>C	c.(385-387)CCT>CCC	p.P129P	PLEKHB2_uc002tsh.2_Silent_p.P129P|PLEKHB2_uc002tsj.3_Silent_p.P129P|PLEKHB2_uc002tsf.3_Silent_p.P129P|PLEKHB2_uc010zao.1_Silent_p.P79P|PLEKHB2_uc010zap.1_Silent_p.P129P|PLEKHB2_uc010zaq.1_Intron|PLEKHB2_uc002tsi.3_Silent_p.P170P	NM_001100623	NP_001094093	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B	129						membrane	protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.0828)		TTTCCTCACCTCCACCATACA	0.602													C	131890528	T	C	131890528	2	2	15	1	0	0	0	0	0	0	0	1	12065	1538	54	3		3	PLEKHB2	2	131890528	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	86892	131890528	111308845	115	11556											
GPR39	2863	broad.mit.edu	37	chr2	133174707	133174707	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggccacctggatcaaaaTcacccttattctggtgtacc	9	12	3	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:133174707T>C	uc002ttl.2	+	1	561	c.92T>C	c.(91-93)ATC>ACC	p.I31T		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	31	Helical; Name=1; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						TGGATCAAAATCACCCTTATT	0.537													C	133174707	T	C	133174707	3	2	15	1	0	0	0	0	1	0	0	0	6693	1435	50	3	94	3	GPR39	2	133174707	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	1284179	133174707	110024666	116	11557											
SCN3A	6328	broad.mit.edu	37	chr2	165997474	165997475	+	Frame_Shift_Ins	INS	-	-	G													tgttttgctattgcgtcttgINSgggaaaacagggagccacgg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:165997473_165997474T>TG	uc002ucx.3	-	12	2198_2199	c.1706_1707A>CA	c.(1705-1707)ccafs	p.P569fs	SCN3A_uc002ucy.3_Frame_Shift_Ins_p.P569fs|SCN3A_uc002ucz.3_Frame_Shift_Ins_p.P569fs|SCN3A_uc002uda.1_Frame_Shift_Ins_p.P438fs|SCN3A_uc002udb.1_Frame_Shift_Ins_p.P438fs	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	569						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TATTGCGTCTTGGGGAAAACAG	0.431													G	165997475	-	G	165997474	7	5	15	1	0	1	1	0	0	0	0	0	13918	1348	47	0	4360	0	SCN3A	2	165997474	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	32822767	165997474	77201899	117	11558											
SCN2A	6326	broad.mit.edu	37	chr2	166246213	166246213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagagaaaaccgatatgaCgccttccaccacgtctccac	6	16	1	2	rs112098080		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:166246213C>T	uc002udc.2	+	27	6187	c.5897C>T	c.(5896-5898)ACG>ATG	p.T1966M	SCN2A_uc002udd.2_Missense_Mutation_p.T1966M|SCN2A_uc002ude.2_Missense_Mutation_p.T1966M	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1966					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	ACCGATATGACGCCTTCCACC	0.383													T	166246213	C	T	166246213	3	4	15	1	0	0	0	0	1	0	0	0	13916	536	19	1	6095	1	SCN2A	2	166246213	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	248739	166246213	76953160	118	11559											
XIRP2	129446	broad.mit.edu	37	chr2	168108385	168108385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagagtttttaaaggcctgGgatatgcaaccgcagatgct	12	7	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:168108385G>A	uc002udx.2	+	8	10501	c.10483G>A	c.(10483-10485)GGA>AGA	p.G3495R	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G3320R|XIRP2_uc010fpq.2_Missense_Mutation_p.G3273R|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	3320					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TAAAGGCCTGGGATATGCAAC	0.383													A	168108385	G	A	168108385	3	1	15	1	0	0	0	0	1	0	0	0	17427	1233	43	4	10513	4	XIRP2	2	168108385	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1862172	168108385	75090988	119	11560											
MYO3B	140469	broad.mit.edu	37	chr2	171242744	171242744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgggaagacagaaagcGcccacctgattgttcagcat	11	11	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:171242744G>A	uc002ufy.2	+	13	1479	c.1336G>A	c.(1336-1338)GCC>ACC	p.A446T	MYO3B_uc002ufv.2_Missense_Mutation_p.A433T|MYO3B_uc010fqb.1_Missense_Mutation_p.A433T|MYO3B_uc002ufz.2_Missense_Mutation_p.A446T|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	446	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						GACAGAAAGCGCCCACCTGAT	0.448													A	171242744	G	A	171242744	3	1	15	1	0	0	0	0	1	0	0	0	10077	1087	38	1	1386	1	MYO3B	2	171242744	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	3134359	171242744	71956629	120	11561											
DYNC1I2	1781	broad.mit.edu	37	chr2	172546719	172546719	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacgtaagaagcagcgactGgcccaaatcagagaggaaaa	12	8	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:172546719G>T	uc002uha.1	+	2	219	c.54G>T	c.(52-54)CTG>CTT	p.L18L	DYNC1I2_uc002uhc.2_Silent_p.L18L|DYNC1I2_uc002uhb.1_Silent_p.L18L|DYNC1I2_uc010zds.1_Silent_p.L18L|DYNC1I2_uc002uhd.1_Silent_p.L18L|DYNC1I2_uc002uhe.1_Silent_p.L18L|DYNC1I2_uc002uhf.1_Silent_p.L18L|DYNC1I2_uc010zdt.1_Silent_p.L18L	NM_001378	NP_001369	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	18					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.198)			AGCAGCGACTGGCCCAAATCa	0.264													T	172546719	G	T	172546719	2	4	15	1	0	0	0	0	0	0	0	1	4843	1335	47	5		5	DYNC1I2	2	172546719	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1303975	172546719	70652654	121	11562											
SLC25A12	8604	broad.mit.edu	37	chr2	172650186	172650186	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggagcacattcagggcgctgActctgggtcccgtggtgatc	15	11	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:172650186A>T	uc002uhh.2	-	14	1486	c.1397T>A	c.(1396-1398)GTC>GAC	p.V466D	SLC25A12_uc010fqh.2_Missense_Mutation_p.V359D	NM_003705	NP_003696	O75746	CMC1_HUMAN	solute carrier family 25, member 12	466	Solcar 2.				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	CAGGGCGCTGACTCTGGGTCC	0.463													T	172650186	A	T	172650186	3	4	15	1	0	0	0	0	1	0	0	0	14474	275	10	5	659	5	SLC25A12	2	172650186	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	103467	172650186	70549187	122	11563											
ITGA6	3655	broad.mit.edu	37	chr2	173368931	173368931	+	Frame_Shift_Del	DEL	A	A	-													aaagtatattgataaccttgAaaaaaaacagtggatcacaa							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:173368931delA	uc002uhp.1	+	25	3430	c.3227delA	c.(3226-3228)GAAfs	p.E1076fs	ITGA6_uc010zdy.1_3'UTR|ITGA6_uc002uho.1_3'UTR|ITGA6_uc010fqm.1_3'UTR	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	1115	Cytoplasmic (Potential).				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GATAACCTTGAAAAAAAACAG	0.408													-	173368931	A	-	173368931	7	5	15	1	0	1	0	1	0	0	0	0	7880	246	9	0	3437	0	ITGA6	2	173368931	Frame_Shift_Del	DEL	A	TCGA-BR-4280-01A-01D-1126-08	718745	173368931	69830442	123	11564											
OSBPL6	114880	broad.mit.edu	37	chr2	179255915	179255915	+	Frame_Shift_Del	DEL	C	C	-													aggactctactgtggtgtggCcccctctgcaaagtgcattt							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:179255915delC	uc002ulx.2	+	22	2795	c.2417delC	c.(2416-2418)GCCfs	p.A806fs	OSBPL6_uc002uly.2_Frame_Shift_Del_p.A831fs|OSBPL6_uc010zfe.1_Frame_Shift_Del_p.A775fs|OSBPL6_uc002ulz.2_Frame_Shift_Del_p.A770fs|OSBPL6_uc002uma.2_Frame_Shift_Del_p.A810fs	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	806					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TGTGGTGTGGCCCCCTCTGCA	0.537													-	179255915	C	-	179255915	7	5	15	1	0	1	0	1	0	0	0	0	11281	739	26	0	2617	0	OSBPL6	2	179255915	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	5886984	179255915	63943458	124	11565											
MSTN	2660	broad.mit.edu	37	chr2	190925074	190925074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaatatatccatagttggGcctttactactttattgtat	5	7	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:190925074G>A	uc002urp.2	-	2	594	c.461C>T	c.(460-462)GCC>GTC	p.A154V		NM_005259	NP_005250	O14793	GDF8_HUMAN	myostatin precursor	154					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CCATAGTTGGGCCTTTACTAC	0.353													A	190925074	G	A	190925074	3	1	15	1	0	0	0	0	1	0	0	0	9893	1203	42	2	674	2	MSTN	2	190925074	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	11669159	190925074	52274299	125	11566											
KCTD18	130535	broad.mit.edu	37	chr2	201355178	201355178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgaaaccggtttgctgtcGccccagccgacgtctggatg	12	12	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:201355178G>A	uc002uvs.2	-	7	1443	c.926C>T	c.(925-927)GCG>GTG	p.A309V	KCTD18_uc002uvt.2_Missense_Mutation_p.A309V	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain	309						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1						GTTTGCTGTCGCCCCAGCCGA	0.592													A	201355178	G	A	201355178	3	1	15	1	0	0	0	0	1	0	0	0	8105	1087	38	1	358	1	KCTD18	2	201355178	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	10430104	201355178	41844195	126	11567											
CASP8	841	broad.mit.edu	37	chr2	202149988	202149988	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctaccgaaaccctgcagagGgaacctggtacatccagtca	9	14	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:202149988G>T	uc002uxr.1	+	9	1461	c.1252G>T	c.(1252-1254)GGA>TGA	p.G418*	CASP8_uc002uxp.1_Nonsense_Mutation_p.G435*|CASP8_uc002uxq.1_Nonsense_Mutation_p.G403*|CASP8_uc002uxt.1_Nonsense_Mutation_p.G477*|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Nonsense_Mutation_p.G403*|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Nonsense_Mutation_p.G334*	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	418					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						CCCTGCAGAGGGAACCTGGTA	0.512										HNSCC(4;0.00038)			T	202149988	G	T	202149988	4	4	15	1	0	0	0	0	0	1	0	0	2677	1233	43	5	1559	5	CASP8	2	202149988	Nonsense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	794810	202149988	41049385	127	11568											
ZDBF2	57683	broad.mit.edu	37	chr2	207174987	207174987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattgatgacttgtcagtggCcttagataaaccatgccatc	8	9	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:207174987C>T	uc002vbp.2	+	5	5985	c.5735C>T	c.(5734-5736)GCC>GTC	p.A1912V		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1912							nucleic acid binding|zinc ion binding			ovary(3)	3						TTGTCAGTGGCCTTAGATAAA	0.483													T	207174987	C	T	207174987	3	4	15	1	0	0	0	0	1	0	0	0	17596	739	26	2	5745	2	ZDBF2	2	207174987	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	5024999	207174987	36024386	128	11569											
ZDBF2	57683	broad.mit.edu	37	chr2	207175826	207175826	+	Frame_Shift_Del	DEL	A	A	-													gtaataagctaggttttcccAaaaaggtttataaaccaatt							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:207175826delA	uc002vbp.2	+	5	6824	c.6574delA	c.(6574-6576)AAAfs	p.K2192fs		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2192							nucleic acid binding|zinc ion binding			ovary(3)	3						AGGTTTTCCCAAAAAGGTTTA	0.338													-	207175826	A	-	207175826	7	5	15	1	0	1	0	1	0	0	0	0	17596	131	5	0	6584	0	ZDBF2	2	207175826	Frame_Shift_Del	DEL	A	TCGA-BR-4280-01A-01D-1126-08	839	207175826	36023547	129	11570											
FAM119A	151194	broad.mit.edu	37	chr2	208477826	208477826	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtaaatatgtacatctttttCaggatcgtagtgaacctttc	7	7	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:208477826C>T	uc002vcf.2	-	4	761	c.601G>A	c.(601-603)GAA>AAA	p.E201K	FAM119A_uc002vce.2_Intron|FAM119A_uc010fuk.1_Missense_Mutation_p.E201K|FAM119A_uc002vcg.3_Missense_Mutation_p.E201K	NM_145280	NP_660323	Q8WXB1	MT21A_HUMAN	hypothetical protein LOC151194	201						integral to membrane	methyltransferase activity				0				LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135)		ACATCTTTTTCAGGATCGTAG	0.373													T	208477826	C	T	208477826	3	4	15	1	0	0	0	0	1	0	0	0	5413	835	29	4	59	4	FAM119A	2	208477826	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1302000	208477826	34721547	130	11571											
ERBB4	2066	broad.mit.edu	37	chr2	212285296	212285296	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagagattctgaaagaacTtgctgtcatttggactggga	11	7	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:212285296T>C	uc002veg.1	-	25	3103	c.3005A>G	c.(3004-3006)AAG>AGG	p.K1002R	ERBB4_uc002veh.1_Missense_Mutation_p.K1002R|ERBB4_uc010zji.1_Missense_Mutation_p.K992R|ERBB4_uc010zjj.1_Missense_Mutation_p.K992R	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1002	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTGAAAGAACTTGCTGTCATT	0.408										TSP Lung(8;0.080)			C	212285296	T	C	212285296	3	2	15	1	0	0	0	0	1	0	0	0	5209	1609	56	3	937	3	ERBB4	2	212285296	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	3807470	212285296	30914077	131	11572											
BARD1	580	broad.mit.edu	37	chr2	215645475	215645475	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtttttcctccctgatgTaccaccaactttacgtttgc	5	13	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:215645475T>C	uc002veu.2	-	4	1258	c.1123A>G	c.(1123-1125)ACA>GCA	p.T375A	BARD1_uc010zjm.1_Missense_Mutation_p.T231A	NM_000465	NP_000456	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	375					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTCCCTGATGTACCACCAACT	0.423									Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				C	215645475	T	C	215645475	3	2	15	1	0	0	0	0	1	0	0	0	1312	1638	57	3	1242	3	BARD1	2	215645475	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	3360179	215645475	27553898	132	11573											
MARCH4	57574	broad.mit.edu	37	chr2	217234942	217234942	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagtaccagccggagcagcaGcaccaccaccaccagagcag	10	17	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:217234942G>C	uc002vgb.2	-	1	1809	c.42C>G	c.(40-42)TGC>TGG	p.C14W		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4	14						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CGGAGCAGCAGCACCACCACC	0.617													C	217234942	G	C	217234942	3	2	15	1	0	0	0	0	1	0	0	0	9303	963	34	5	1206	5	MARCH4	2	217234942	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1589467	217234942	25964431	133	11574											
ZNF142	7701	broad.mit.edu	37	chr2	219508084	219508084	+	Frame_Shift_Del	DEL	C	C	-													gttttcctcccccgccacgtCcccccctgcagccttcagcc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:219508083_219508083TC>T	uc002vin.3	-	7	3592	c.3156_3156GA>A	c.(3154-3156)ggafs	p.G1052fs	ZNF142_uc002vil.3_Frame_Shift_Del_p.G1013fs|ZNF142_uc010fvt.3_Frame_Shift_Del_p.G889fs|ZNF142_uc002vim.3_Frame_Shift_Del_p.G889fs	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1052					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCCCGCCACGTCCCCCCCTGC	0.602													-	219508084	C	-	219508084	7	5	15	1	0	1	0	1	0	0	0	0	17728	855	30	0	1920	0	ZNF142	2	219508084	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	2273142	219508084	23691289	134	11575											
TMEM198	130612	broad.mit.edu	37	chr2	220414535	220414535	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actatgagtatgggtcccggGgacctctgacagcctgctca	12	12	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:220414535G>T	uc002vme.2	+	6	1627	c.1042G>T	c.(1042-1044)GGA>TGA	p.G348*	TMEM198_uc002vmf.2_Nonsense_Mutation_p.G348*|hsa-mir-3132|MI0014152_5'Flank	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	transmembrane protein 198	348						integral to membrane				ovary(1)	1		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGGGTCCCGGGGACCTCTGAC	0.607													T	220414535	G	T	220414535	4	4	15	1	0	0	0	0	0	1	0	0	16116	1233	43	5	1056	5	TMEM198	2	220414535	Nonsense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	906451	220414535	22784838	135	11576											
STK11IP	114790	broad.mit.edu	37	chr2	220474096	220474096	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtcaggagctgcttgcCgtgttgaccccagtcaccaa	10	14	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:220474096C>A	uc002vml.2	+	17	2014	c.1971C>A	c.(1969-1971)GCC>GCA	p.A657A	STK11IP_uc010zll.1_3'UTR|STK11IP_uc002vmm.1_Silent_p.A646A	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein	657					protein localization	cytoplasm	protein kinase binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGCTTGCCGTGTTGACCC	0.642													A	220474096	C	A	220474096	2	1	15	1	0	0	0	0	0	0	0	1	15287	639	23	5		5	STK11IP	2	220474096	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	59561	220474096	22725277	136	11577											
TRIP12	9320	broad.mit.edu	37	chr2	230652352	230652352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacataaaaaagcatttgccGggtatcaaaaggaaagaaaa	8	5	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:230652352G>A	uc002vpw.1	-	32	4748	c.4639C>T	c.(4639-4641)CGG>TGG	p.R1547W	TRIP12_uc002vpx.1_Missense_Mutation_p.R1595W|TRIP12_uc002vpy.1_Missense_Mutation_p.R1277W	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1547	K-box.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGCATTTGCCGGGTATCAAAA	0.343													A	230652352	G	A	230652352	3	1	15	1	0	0	0	0	1	0	0	0	16553	1115	39	1	1379	1	TRIP12	2	230652352	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	10178256	230652352	12547021	137	11578											
GPR55	9290	broad.mit.edu	37	chr2	231774722	231774722	+	Frame_Shift_Del	DEL	C	C	-													acaggatgtccttccgttagCcccgggagatcgtggtgtcc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:231774722delC	uc002vrg.2	-	2	1149	c.956delG	c.(955-957)GGCfs	p.G319fs	GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Frame_Shift_Del_p.G319fs	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	319	Cytoplasmic (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		CTTCCGTTAGCCCCGGGAGAT	0.552													-	231774722	C	-	231774722	7	5	15	1	0	1	0	1	0	0	0	0	6699	739	26	0	7	0	GPR55	2	231774722	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	1122370	231774722	11424651	138	11579											
NCL	4691	broad.mit.edu	37	chr2	232327984	232327986	+	In_Frame_Del	DEL	GGA	GGA	-													tatcttcttctacctcctttGgaggaggagccattttcttg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:232327984_232327986delGGA	uc002vru.2	-	2	201_203	c.60_62delTCC	c.(58-63)CCTCCA>CCA	p.20_21PP>P	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	nucleolin	20_21					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			ovary(2)|pancreas(1)	3		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TACCTCCTTTGGAGGAGGAGCCA	0.399													-	232327986	GGA	-	232327984	7	5	15	1	0	1	0	1	0	0	0	0	10226	1348	47	0	2122	0	NCL	2	232327984	In_Frame_Del	DEL	GGA	TCGA-BR-4280-01A-01D-1126-08	553262	232327984	10871389	139	11580											
CXCR7	57007	broad.mit.edu	37	chr2	237489246	237489246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagcgtcctgctctacacGctctccttcatttacatttt	4	13	3	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:237489246G>A	uc010fyq.2	+	3	368	c.138G>A	c.(136-138)ACG>ACA	p.T46T	CXCR7_uc002vwd.2_Silent_p.T46T	NM_020311	NP_064707	P25106	CXCR7_HUMAN	chemokine orphan receptor 1	46	Helical; Name=1; (Potential).				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		TGCTCTACACGCTCTCCTTCA	0.532													A	237489246	G	A	237489246	2	1	15	1	0	0	0	0	0	0	0	1	4096	1074	38	1		1	CXCR7	2	237489246	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	5161262	237489246	5710127	140	11581											
PER2	8864	broad.mit.edu	37	chr2	239159277	239159277	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctgcaggacgcacttaaTgaaatgctcactttcttcca	6	12	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:239159277T>C	uc002vyc.2	-	21	3619	c.3382A>G	c.(3382-3384)ATT>GTT	p.I1128V	PER2_uc010znv.1_Missense_Mutation_p.I1128V	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	1128					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		ACGCACTTAATGAAATGCTCA	0.478													C	239159277	T	C	239159277	3	2	15	1	0	0	0	0	1	0	0	0	11730	1464	51	3	397	3	PER2	2	239159277	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	1670031	239159277	4040096	141	11582											
KIF1A	547	broad.mit.edu	37	chr2	241700703	241700703	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaggaagatggcgttgccCcacagcaggtcccgcagaga	14	11	0	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:241700703C>A	uc002vzy.2	-	23	2327	c.2181G>T	c.(2179-2181)TGG>TGT	p.W727C	KIF1A_uc010fzk.2_Missense_Mutation_p.W736C|KIF1A_uc002vzz.1_Missense_Mutation_p.W736C	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	727					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)		TGGCGTTGCCCCACAGCAGGT	0.602													A	241700703	C	A	241700703	3	1	15	1	0	0	0	0	1	0	0	0	8283	624	22	5	2991	5	KIF1A	2	241700703	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2541426	241700703	1498670	142	11583											
KIF1A	547	broad.mit.edu	37	chr2	241726673	241726673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggggagccctacctccaCggagtaggacatgttgtcgt	15	11	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr2:241726673C>T	uc002vzy.2	-	5	570	c.424G>A	c.(424-426)GTG>ATG	p.V142M	KIF1A_uc010fzk.2_Missense_Mutation_p.V142M|KIF1A_uc002vzz.1_Missense_Mutation_p.V142M	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	142	Kinesin-motor.				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)		CCTACCTCCACGGAGTAGGAC	0.632													T	241726673	C	T	241726673	3	4	15	1	0	0	0	0	1	0	0	0	8283	536	19	1	4820	1	KIF1A	2	241726673	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	25970	241726673	1472700	143	11584											
CHL1	10752	broad.mit.edu	37	chr3	419520	419520	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggataattattgatggagctAatttgaccatatctaatgta	8	4	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:419520A>G	uc003bou.2	+	15	1994	c.1723A>G	c.(1723-1725)AAT>GAT	p.N575D	CHL1_uc003bot.2_Missense_Mutation_p.N591D|CHL1_uc003bow.1_Missense_Mutation_p.N575D|CHL1_uc011asi.1_Missense_Mutation_p.N591D|uc003box.1_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	575	Ig-like C2-type 6.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TGATGGAGCTAATTTGACCAT	0.333													G	419520	A	G	419520	3	3	15	1	0	0	0	0	1	0	0	0	3349	362	13	3	1825	3	CHL1	3	419520	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08		419520	197602910	144	11585											
CNTN4	152330	broad.mit.edu	37	chr3	3095601	3095601	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatataatagaaattaagccAttcagcgacggaggagatgg	11	5	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:3095601A>G	uc003bpc.2	+	23	3143	c.2922A>G	c.(2920-2922)CCA>CCG	p.P974P	CNTN4_uc003bpe.2_Silent_p.P646P|CNTN4_uc003bpf.2_Silent_p.P645P|CNTN4_uc003bpg.2_Silent_p.P230P	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	974	Fibronectin type-III 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAATTAAGCCATTCAGCGACG	0.398													G	3095601	A	G	3095601	2	3	15	1	0	0	0	0	0	0	0	1	3643	204	8	3		3	CNTN4	3	3095601	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	2676081	3095601	194926829	145	11586											
IL17RE	132014	broad.mit.edu	37	chr3	9944618	9944618	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctaattgcacagaagcccaTggggagctccagactggcag	12	12	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:9944618T>C	uc003btu.2	+	2	119	c.2T>C	c.(1-3)ATG>ACG	p.M1T	CIDEC_uc003bto.2_Intron|IL17RE_uc003btv.2_Missense_Mutation_p.M1T|IL17RE_uc011atn.1_RNA|IL17RE_uc003btw.2_Missense_Mutation_p.M1T|IL17RE_uc003btx.2_5'UTR|IL17RE_uc010hcq.2_Missense_Mutation_p.M1T|IL17RE_uc003bty.2_RNA	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E isoform 1	1						cytoplasm|extracellular region|integral to membrane	receptor activity			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CAGAAGCCCATGGGGAGCTCC	0.617													C	9944618	T	C	9944618	3	2	15	1	0	0	0	0	1	0	0	0	7643	1464	51	3	4	3	IL17RE	3	9944618	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	6849017	9944618	188077812	146	11587											
ATP2B2	491	broad.mit.edu	37	chr3	10370646	10370646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcgagttctgcttgagcGcggcatcttcttccaggtcg	13	12	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:10370646G>A	uc003bvt.2	-	23	4023	c.3584C>T	c.(3583-3585)GCG>GTG	p.A1195V	ATP2B2_uc003bvv.2_Missense_Mutation_p.A1150V|ATP2B2_uc003bvw.2_Missense_Mutation_p.A1150V|ATP2B2_uc003bvs.2_RNA|ATP2B2_uc010hdo.2_Missense_Mutation_p.A900V|hsa-mir-378b|MI0014154_5'Flank	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	1195	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						CTGCTTGAGCGCGGCATCTTC	0.547													A	10370646	G	A	10370646	3	1	15	1	0	0	0	0	1	0	0	0	1140	1087	38	1	151	1	ATP2B2	3	10370646	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	426028	10370646	187651784	147	11588											
MKRN2	23609	broad.mit.edu	37	chr3	12611711	12611711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaactaactcacatgaaccCggaaagcgtgaaaagagaac	8	9	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:12611711C>T	uc003bxd.2	+	3	353	c.297C>T	c.(295-297)CCC>CCT	p.P99P	MKRN2_uc003bxe.2_Silent_p.P97P|MKRN2_uc011aus.1_Silent_p.P56P	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	99						intracellular	ligase activity|nucleic acid binding|zinc ion binding				0						CACATGAACCCGGAAAGCGTG	0.498													T	12611711	C	T	12611711	2	4	15	1	0	0	0	0	0	0	0	1	9607	639	23	1		1	MKRN2	3	12611711	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2241065	12611711	185410719	148	11589											
GPD1L	23171	broad.mit.edu	37	chr3	32181769	32181769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcatttctgacatcatccGtgagaagatgggtattgaca	10	8	3	4			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:32181769G>A	uc003cew.2	+	4	476	c.416G>A	c.(415-417)CGT>CAT	p.R139H		NM_015141	NP_055956	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	139					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity				0						GACATCATCCGTGAGAAGATG	0.517													A	32181769	G	A	32181769	3	1	15	1	0	0	0	0	1	0	0	0	6605	1145	40	1	430	1	GPD1L	3	32181769	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	19570058	32181769	165840661	149	11590											
ACVR2B	93	broad.mit.edu	37	chr3	38520654	38520654	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagagtgaacgggagatcttCagcacacctggcatgaagca	12	10	2	4			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:38520654C>T	uc003cif.2	+	6	726	c.702C>T	c.(700-702)TTC>TTT	p.F234F	ACVR2B_uc003cig.2_Silent_p.F25F	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	234	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GGGAGATCTTCAGCACACCTG	0.602													T	38520654	C	T	38520654	2	4	15	1	0	0	0	0	0	0	0	1	224	825	29	4		4	ACVR2B	3	38520654	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	6338885	38520654	159501776	150	11591											
CCR2	729230	broad.mit.edu	37	chr3	46399019	46399019	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccccagtacatccacaacAtgctgtccacatctcgttct	4	16	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:46399019A>G	uc003cpn.3	+	2	486	c.1A>G	c.(1-3)ATG>GTG	p.M1V	CCR2_uc003cpm.3_Missense_Mutation_p.M1V	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2 isoform A	1	Extracellular (Potential).				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			lung(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CATCCACAACATGCTGTCCAC	0.428													G	46399019	A	G	46399019	3	3	15	1	0	0	0	0	1	0	0	0	2941	217	8	3	3	3	CCR2	3	46399019	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	7878365	46399019	151623411	151	11592											
SETD2	29072	broad.mit.edu	37	chr3	47143010	47143011	+	Frame_Shift_Ins	INS	-	-	A													aaggaaccagtttggtggtaINSaaaaacccaaccctcagttg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:47143009_47143010T>TA	uc003cqv.3	-	8	5240_5241	c.5154_5155A>TA	c.(5152-5157)tttaccfs	p.F1718fs	SETD2_uc003cqs.3_Frame_Shift_Ins_p.F1651fs	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGTTTGGTGGTAAAAAACCCAA	0.401			"N, F, S, Mis"		clear cell renal carcinoma								A	47143011	-	A	47143010	7	5	15	1	0	1	1	0	0	0	0	0	14131	359	13	0	2797	0	SETD2	3	47143010	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	743991	47143010	150879420	152	11593											
P4HTM	54681	broad.mit.edu	37	chr3	49040002	49040002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattcaggagatgtacgccGcgatcaaggctgaccctgat	12	11	2	3	rs34281016		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:49040002G>A	uc003cvg.2	+	4	1046	c.697G>A	c.(697-699)GCG>ACG	p.A233T	P4HTM_uc003cvh.2_Missense_Mutation_p.A233T|P4HTM_uc010hkm.1_Missense_Mutation_p.A119T	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN	hypoxia-inducible factor prolyl 4-hydroxylase	233	Lumenal (Potential).|EF-hand 2.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)|pancreas(1)	2					Vitamin C(DB00126)	GATGTACGCCGCGATCAAGGC	0.562													A	49040002	G	A	49040002	3	1	15	1	0	0	0	0	1	0	0	0	11360	1087	38	1	711	1	P4HTM	3	49040002	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1896992	49040002	148982428	153	11594											
AMIGO3	386724	broad.mit.edu	37	chr3	49755859	49755859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcacacgaagagtcccGcatgctgctcctgtacgttg	11	14	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:49755859G>A	uc003cxj.2	-	1	1380	c.1040C>T	c.(1039-1041)GCG>GTG	p.A347V	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	347	Extracellular (Potential).|Ig-like C2-type.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GAAGAGTCCCGCATGCTGCTC	0.672													A	49755859	G	A	49755859	3	1	15	1	0	0	0	0	1	0	0	0	577	1087	38	1	478	1	AMIGO3	3	49755859	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	715857	49755859	148266571	154	11595											
RBM6	10180	broad.mit.edu	37	chr3	50005493	50005493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagggccagagaacagtcccGttctgattttaggaatagag	12	7	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:50005493G>A	uc003cyc.2	+	3	768	c.635G>A	c.(634-636)CGT>CAT	p.R212H	RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	212					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GAACAGTCCCGTTCTGATTTT	0.423													A	50005493	G	A	50005493	3	1	15	1	0	0	0	0	1	0	0	0	13144	1145	40	1	641	1	RBM6	3	50005493	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	249634	50005493	148016937	155	11596											
RBM6	10180	broad.mit.edu	37	chr3	50005514	50005514	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgattttaggaatagagAtgtatctgatttggacttta	9	3	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:50005514A>G	uc003cyc.2	+	3	789	c.656A>G	c.(655-657)GAT>GGT	p.D219G	RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	219					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGGAATAGAGATGTATCTGAT	0.448													G	50005514	A	G	50005514	3	3	15	1	0	0	0	0	1	0	0	0	13144	333	12	3	662	3	RBM6	3	50005514	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	21	50005514	148016916	156	11597											
SLC38A3	10991	broad.mit.edu	37	chr3	50251692	50251692	+	Frame_Shift_Del	DEL	G	G	-													cccaatggcaaacactcagaGgggctgctcccggtcatcac							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:50251691_50251691AG>A	uc003cyn.4	+	1	200	c.59_59AG>A	c.(58-60)gagfs	p.E20fs	SLC38A3_uc011bdl.2_Frame_Shift_Del_p.E20fs|SLC38A3_uc011bdm.2_5'Flank	NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	20					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	AAACACTCAGAGGGGCTGCTC	0.617													-	50251692	G	-	50251692	7	5	15	1	0	1	0	1	0	0	0	0	14605	991	35	0	62	0	SLC38A3	3	50251692	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	246178	50251692	147770738	157	11598											
DOCK3	1795	broad.mit.edu	37	chr3	51413261	51413261	+	Frame_Shift_Del	DEL	A	A	-													tcccaatctgtctgtggctgAaaaaggtattgttgcccagg					rs34788750		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:51413261delA	uc011bds.1	+	51	5518	c.5495delA	c.(5494-5496)GAAfs	p.E1832fs		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1832						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCTGTGGCTGAAAAAGGTATT	0.557													-	51413261	A	-	51413261	7	5	15	1	0	1	0	1	0	0	0	0	4688	246	9	0	5697	0	DOCK3	3	51413261	Frame_Shift_Del	DEL	A	TCGA-BR-4280-01A-01D-1126-08	1161569	51413261	146609169	158	11599											
TLR9	54106	broad.mit.edu	37	chr3	52255367	52255367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggaggacactctggcGgcagaggcgctggcgcagcc	17	13	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:52255367G>A	uc003dda.1	-	2	3599	c.2965C>T	c.(2965-2967)CGC>TGC	p.R989C	TLR9_uc003ddb.2_Missense_Mutation_p.R1086C	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	989	TIR.|Cytoplasmic (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	ACACTCTGGCGGCAGAGGCGC	0.687													A	52255367	G	A	52255367	3	1	15	1	0	0	0	0	1	0	0	0	15955	1116	39	1	137	1	TLR9	3	52255367	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	842106	52255367	145767063	159	11600											
TLR9	54106	broad.mit.edu	37	chr3	52257017	52257017	+	Frame_Shift_Del	DEL	C	C	-													cttctcccctccatctgcctCccccatggtggctgtcagct							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:52257017delC	uc003dda.1	-	2	1949	c.1315delG	c.(1315-1317)GAGfs	p.E439fs	TLR9_uc003ddb.2_Frame_Shift_Del_p.E536fs	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	439	LRR 14.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CCATCTGCCTCCCCCATGGTG	0.657													-	52257017	C	-	52257017	7	5	15	1	0	1	0	1	0	0	0	0	15955	864	30	0	1787	0	TLR9	3	52257017	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	1650	52257017	145765413	160	11601											
GLYCTK	132158	broad.mit.edu	37	chr3	52325846	52325846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactagactgctggcagccCgtggagccaccatccaggag	12	14	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:52325846C>T	uc003ddo.2	+	4	709	c.613C>T	c.(613-615)CGT>TGT	p.R205C	GLYCTK_uc003ddq.2_Intron|GLYCTK_uc003ddm.2_RNA|GLYCTK_uc003ddn.2_Intron|GLYCTK_uc003ddp.1_Missense_Mutation_p.R205C|GLYCTK_uc003ddr.2_5'Flank	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	glycerate kinase isoform 1	205					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		GCTGGCAGCCCGTGGAGCCAC	0.622											OREG0015611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	52325846	C	T	52325846	3	4	15	1	0	0	0	0	1	0	0	0	6482	652	23	1	623	1	GLYCTK	3	52325846	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	68829	52325846	145696584	161	11602											
TNNC1	7134	broad.mit.edu	37	chr3	52486500	52486501	+	Frame_Shift_Ins	INS	-	-	T													tgtgatagggattctcaccaINStttttctgctcttctgtcag							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:52486500_52486501insT	uc003deb.2	-	2	79_80	c.53_54insA	c.(52-54)AATfs	p.N18fs	NISCH_uc011beg.1_5'Flank	NM_003280	NP_003271	P63316	TNNC1_HUMAN	troponin C, slow	18	EF-hand 1.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding				0				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	GATTCTCACCATTTTTCTGCTC	0.54													T	52486501	-	T	52486500	7	5	15	1	0	1	1	0	0	0	0	0	16321	231	8	0	451	0	TNNC1	3	52486500	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	160654	52486500	145535930	162	11603	21	2									
TNNC1	7134	broad.mit.edu	37	chr3	52486501	52486502	+	Splice_Site	INS	-	-	T													gtgatagggattctcaccatINSttttctgctcttctgtcagc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:52486500_52486501A>AT	uc003deb.3	-	2	81	c.55_splice	c.e2+1	p.E19_splice		NM_003280	NP_003271	P63316	TNNC1_HUMAN	Homo sapiens troponin C type 1 (slow) (TNNC1), mRNA.	19	EF-hand 1.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	GATTCTCACCATTTTTCTGCTC	0.54													T	52486502	-	T	52486501	8	5	15	1	0	1	1	0	0	0	1	0	16321	1493	52	0	452	0	TNNC1	3	52486501	Splice_Site	INS	-	TCGA-BR-4280-01A-01D-1126-08	1	52486501	145535929	163	11604	21	2									
NISCH	11188	broad.mit.edu	37	chr3	52525384	52525384	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaggttccaccccgatgcaGgtggtcacgtgcttgacgcg	14	13	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:52525384G>T	uc011beg.1	+	21	3831	c.3759G>T	c.(3757-3759)CAG>CAT	p.Q1253H	NISCH_uc003ded.3_Missense_Mutation_p.Q1253H|NISCH_uc003dee.3_Missense_Mutation_p.Q742H|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_Missense_Mutation_p.Q2H	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1253					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCCCGATGCAGGTGGTCACGT	0.672													T	52525384	G	T	52525384	3	4	15	1	0	0	0	0	1	0	0	0	10432	991	35	5	3837	5	NISCH	3	52525384	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	38883	52525384	145497046	164	11605											
WNT5A	7474	broad.mit.edu	37	chr3	55508438	55508438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcccttggcgtggatgCgctcccgctcgcgggcgtcc	16	15	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:55508438C>T	uc003dhn.2	-	4	929	c.611G>A	c.(610-612)CGC>CAC	p.R204H	WNT5A_uc003dhm.2_Missense_Mutation_p.R189H|WNT5A_uc010hmw.2_Missense_Mutation_p.R189H|WNT5A_uc010hmx.2_Missense_Mutation_p.R115H	NM_003392	NP_003383	P41221	WNT5A_HUMAN	wingless-type MMTV integration site family,	204					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		GGCGTGGATGCGCTCCCGCTC	0.682													T	55508438	C	T	55508438	3	4	15	1	0	0	0	0	1	0	0	0	17388	768	27	1	539	1	WNT5A	3	55508438	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2983054	55508438	142513992	165	11606											
ACOX2	8309	broad.mit.edu	37	chr3	58516335	58516335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagttgctctgtgctgtacCgagtttgacgtaggtgccat	13	8	1	1	rs143508132	byFrequency	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:58516335C>T	uc003dkl.2	-	8	1025	c.850G>A	c.(850-852)GGT>AGT	p.G284S		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	acyl-Coenzyme A oxidase 2	284					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TGTGCTGTACCGAGTTTGACG	0.582													T	58516335	C	T	58516335	3	4	15	1	0	0	0	0	1	0	0	0	159	652	23	1	1227	1	ACOX2	3	58516335	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	3007897	58516335	139506095	166	11607											
PTPRG	5793	broad.mit.edu	37	chr3	62204651	62204651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcattgctgtgctcgtttActggaggtaagccaggcagc	12	10	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:62204651A>G	uc003dlb.2	+	13	3001	c.2282A>G	c.(2281-2283)TAC>TGC	p.Y761C	PTPRG_uc003dlc.2_Missense_Mutation_p.Y761C|PTPRG_uc011bfi.1_Missense_Mutation_p.Y36C	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	761	Helical; (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GTGCTCGTTTACTGGAGGTAA	0.577													G	62204651	A	G	62204651	3	3	15	1	0	0	0	0	1	0	0	0	12802	391	14	3	2332	3	PTPRG	3	62204651	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	3688316	62204651	135817779	167	11608											
SYNPR	132204	broad.mit.edu	37	chr3	63542315	63542315	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgtcttcagcagagttcttCgtcactgttgctgtcttcgc	9	12	5	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:63542315C>T	uc003dlq.2	+	3	615	c.246C>T	c.(244-246)TTC>TTT	p.F82F	SYNPR_uc003dlp.2_Silent_p.F102F|SYNPR_uc011bfk.1_RNA|SYNPR_uc011bfl.1_Intron|SYNPR_uc010hnt.2_Silent_p.F91F|SYNPR_uc011bfm.1_Intron	NM_144642	NP_653243	Q8TBG9	SYNPR_HUMAN	synaptoporin isoform 2	82	MARVEL.|Helical; (Potential).					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		CAGAGTTCTTCGTCACTGTTG	0.522													T	63542315	C	T	63542315	2	4	15	1	0	0	0	0	0	0	0	1	15456	883	31	1		1	SYNPR	3	63542315	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1337664	63542315	134480115	168	11609											
ATXN7	6314	broad.mit.edu	37	chr3	63981263	63981263	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actctgtgccgacatcacaaTgtggagtcagctatctggca	10	11	4	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:63981263T>C	uc003dlw.3	+	12	2318	c.1765T>C	c.(1765-1767)TGT>CGT	p.C589R	ATXN7_uc003dlv.2_Missense_Mutation_p.C589R|ATXN7_uc010hnv.2_Missense_Mutation_p.C589R|ATXN7_uc011bfn.1_Missense_Mutation_p.C444R	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	589					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GACATCACAATGTGGAGTCAG	0.517													C	63981263	T	C	63981263	3	2	15	1	0	0	0	0	1	0	0	0	1215	1464	51	3	1871	3	ATXN7	3	63981263	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	438948	63981263	134041167	169	11610											
MAGI1	9223	broad.mit.edu	37	chr3	65342221	65342221	+	Frame_Shift_Del	DEL	G	G	-													gaccgctctctcctgcgctcGggggagcgtgcgcgcctccg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:65342221delG	uc003dmn.2	-	23	4747	c.4221delC	c.(4219-4221)CCCfs	p.P1407fs	MAGI1_uc003dmm.2_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	1436					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCCTGCGCTCGGGGGAGCGTG	0.662													-	65342221	G	-	65342221	7	5	15	1	0	1	0	1	0	0	0	0	9190	1103	39	0	171	0	MAGI1	3	65342221	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	1360958	65342221	132680209	170	11611											
FOXP1	27086	broad.mit.edu	37	chr3	71027093	71027093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgacgggagtcaggggggCggttggggtcgttggagtat	23	4	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:71027093C>T	uc003dol.2	-	11	1557	c.1234G>A	c.(1234-1236)GCC>ACC	p.A412T	FOXP1_uc003dom.2_Missense_Mutation_p.A336T|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.A412T|FOXP1_uc003dop.2_Missense_Mutation_p.A412T|FOXP1_uc003doq.1_Missense_Mutation_p.A411T|FOXP1_uc003doi.2_Missense_Mutation_p.A312T|FOXP1_uc003doj.2_Missense_Mutation_p.A312T|FOXP1_uc003dok.2_Missense_Mutation_p.A225T|FOXP1_uc003dor.1_Missense_Mutation_p.A190T	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	412					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GTCAGGGGGGCGGTTGGGGTC	0.557			T	PAX5	ALL								T	71027093	C	T	71027093	3	4	15	1	0	0	0	0	1	0	0	0	6026	768	27	1	827	1	FOXP1	3	71027093	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	5684872	71027093	126995337	171	11612											
FOXP1	27086	broad.mit.edu	37	chr3	71247410	71247410	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccgatgtccacggccggCgtctctccgttggaccgccc	12	19	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:71247410C>T	uc003dol.2	-	2	446	c.123G>A	c.(121-123)ACG>ACA	p.T41T	FOXP1_uc003dom.2_Silent_p.T41T|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Silent_p.T41T|FOXP1_uc003dop.2_Silent_p.T41T|FOXP1_uc003doq.1_Silent_p.T41T|FOXP1_uc003dos.2_Silent_p.T41T	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	41					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CCACGGCCGGCGTCTCTCCGT	0.637			T	PAX5	ALL								T	71247410	C	T	71247410	2	4	15	1	0	0	0	0	0	0	0	1	6026	755	27	1		1	FOXP1	3	71247410	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	220317	71247410	126775020	172	11613											
NSUN3	63899	broad.mit.edu	37	chr3	93803180	93803180	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaaaatattatctcctaaatGctgcttctcttctcccagtg	4	11	3	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:93803180G>C	uc003drl.1	+	3	468	c.352G>C	c.(352-354)GCT>CCT	p.A118P		NM_022072	NP_071355	Q9H649	NSUN3_HUMAN	NOL1/NOP2/Sun domain family, member 3	118							methyltransferase activity			skin(1)	1						TCTCCTAAATGCTGCTTCTCT	0.458													C	93803180	G	C	93803180	3	2	15	1	0	0	0	0	1	0	0	0	10679	1319	46	5	362	5	NSUN3	3	93803180	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	22555770	93803180	104219250	173	11614											
SENP7	57337	broad.mit.edu	37	chr3	101136515	101136515	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaacagatgtcgaaggcAatgagtctgattgcaccttg	11	8	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:101136515A>G	uc003dut.2	-	5	515	c.404T>C	c.(403-405)TTG>TCG	p.L135S	SENP7_uc003duu.2_Missense_Mutation_p.L135S|SENP7_uc003duv.2_Missense_Mutation_p.L102S|SENP7_uc003duw.2_Intron|SENP7_uc003dux.2_Intron	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	135					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						TGTCGAAGGCAATGAGTCTGA	0.393													G	101136515	A	G	101136515	3	3	15	1	0	0	0	0	1	0	0	0	14051	131	5	3	2828	3	SENP7	3	101136515	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	7333335	101136515	96885915	174	11615											
MORC1	27136	broad.mit.edu	37	chr3	108773613	108773613	+	Frame_Shift_Del	DEL	C	C	-													agtactggaccaagtactgtCccatgacttttagtagatga							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:108773613delC	uc003dxl.2	-	14	1379	c.1292delG	c.(1291-1293)GGAfs	p.G431fs	MORC1_uc011bhn.1_Frame_Shift_Del_p.G431fs	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	431					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						CAAGTACTGTCCCATGACTTT	0.383													-	108773613	C	-	108773613	7	5	15	1	0	1	0	1	0	0	0	0	9701	855	30	0	1722	0	MORC1	3	108773613	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	7637098	108773613	89248817	175	11616											
DRD3	1814	broad.mit.edu	37	chr3	113847734	113847734	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacatgggtcaagaagaaGggcagccagcagacaatgaa	13	7	1	5			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:113847734G>A	uc003ebd.2	-	8	1455	c.1032C>T	c.(1030-1032)CCC>CCT	p.P344P	DRD3_uc010hqn.1_Silent_p.P344P|DRD3_uc003ebb.1_Silent_p.P311P|DRD3_uc003ebc.1_Silent_p.P344P	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	344	Agonist binding.|Helical; Name=6.				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TCAAGAAGAAGGGCAGCCAGC	0.498													A	113847734	G	A	113847734	2	1	15	1	0	0	0	0	0	0	0	1	4758	987	35	4		4	DRD3	3	113847734	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	5074121	113847734	84174696	176	11617											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-													cacctgggggtgtgcctgcaGggggggtcccattgctggca							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:114058003delG	uc003ebi.2	-	5	2255	c.2075delC	c.(2074-2076)CCTfs	p.P692fs	ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P619fs	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632													-	114058003	G	-	114058003	7	5	15	1	0	1	0	1	0	0	0	0	17526	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	210269	114058003	83964427	177	11618											
PLXNA1	5361	broad.mit.edu	37	chr3	126710241	126710241	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacagcccctgcagatcgaTgacgacttctgcgggcagga	12	14	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:126710241T>C	uc003ejg.2	+	2	1144	c.1140T>C	c.(1138-1140)GAT>GAC	p.D380D		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	403	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		TGCAGATCGATGACGACTTCT	0.672													C	126710241	T	C	126710241	2	2	15	1	0	0	0	0	0	0	0	1	12119	1461	51	3		3	PLXNA1	3	126710241	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	12652238	126710241	71312189	178	11619											
PPP2R3A	5523	broad.mit.edu	37	chr3	135721164	135721164	+	Frame_Shift_Del	DEL	A	A	-													tgatacaatttctagctctgAaactgtctatatgaatgtaa							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:135721164delA	uc003eqv.1	+	2	1389	c.824delA	c.(823-825)GAAfs	p.E275fs	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	275					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						TCTAGCTCTGAAACTGTCTAT	0.338													-	135721164	A	-	135721164	7	5	15	1	0	1	0	1	0	0	0	0	12388	246	9	0	826	0	PPP2R3A	3	135721164	Frame_Shift_Del	DEL	A	TCGA-BR-4280-01A-01D-1126-08	9010923	135721164	62301266	179	11620											
DZIP1L	199221	broad.mit.edu	37	chr3	137787113	137787113	+	Frame_Shift_Del	DEL	G	G	-													catggctctgacgagttggtGggggtggctctgccggtgtg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:137787113delG	uc003erq.2	-	13	2075	c.1712delC	c.(1711-1713)CCAfs	p.P571fs		NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	571						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						ACGAGTTGGTGGGGGTGGCTC	0.667													-	137787113	G	-	137787113	7	5	15	1	0	1	0	1	0	0	0	0	4864	1348	47	0	607	0	DZIP1L	3	137787113	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	2065949	137787113	60235317	180	11621											
NMNAT3	349565	broad.mit.edu	37	chr3	139280118	139280118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtgacctactcggcccaCgcacaccaagccaaacttct	7	17	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:139280118C>T	uc003etj.2	-	4	533	c.493G>A	c.(493-495)GTG>ATG	p.V165M	NMNAT3_uc003etk.2_Missense_Mutation_p.V128M|NMNAT3_uc003etl.2_RNA|NMNAT3_uc010hul.2_Missense_Mutation_p.V76M	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	nicotinamide mononucleotide adenylyltransferase	165					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity				0						ACTCGGCCCACGCACACCAAG	0.552													T	139280118	C	T	139280118	3	4	15	1	0	0	0	0	1	0	0	0	10500	536	19	1	269	1	NMNAT3	3	139280118	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1493005	139280118	58742312	181	11622											
HPS3	84343	broad.mit.edu	37	chr3	148872996	148872996	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagtgcagctgtacaaAgagatggtactcttttcaaa	8	9	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:148872996A>C	uc003ewu.1	+	8	1643	c.1503A>C	c.(1501-1503)AAA>AAC	p.K501N	HPS3_uc011bnq.1_Missense_Mutation_p.K336N	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	501						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGCTGTACAAAGAGATGGTAC	0.353									Hermansky-Pudlak_syndrome				C	148872996	A	C	148872996	3	2	15	1	0	0	0	0	1	0	0	0	7340	69	3	5	1533	5	HPS3	3	148872996	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	9592878	148872996	49149434	182	11623											
FAM194A	131831	broad.mit.edu	37	chr3	150377912	150377912	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatctccacttacgtatcGgaggattggaatctcctcag	9	11	4	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:150377912G>A	uc003eyg.2	-	14	1816	c.1759C>T	c.(1759-1761)CGA>TGA	p.R587*	FAM194A_uc003eyh.2_Nonsense_Mutation_p.R441*	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	587										skin(2)|ovary(1)	3						CTTACGTATCGGAGGATTGGA	0.468													A	150377912	G	A	150377912	4	1	15	1	0	0	0	0	0	1	0	0	5526	1124	39	1	236	1	FAM194A	3	150377912	Nonsense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1504916	150377912	47644518	183	11624											
IGSF10	285313	broad.mit.edu	37	chr3	151164080	151164081	+	Frame_Shift_Ins	INS	-	-	T													aggaagcatcacagctgtgcINSttttttgtaaactaacttta							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:151164080_151164081insT	uc011bod.1	-	4	3688_3689	c.3688_3689insA	c.(3688-3690)AGCfs	p.S1230fs		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1230					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CACAGCTGTGCTTTTTTGTAAA	0.381													T	151164081	-	T	151164080	7	5	15	1	0	1	1	0	0	0	0	0	7597	797	28	0	4242	0	IGSF10	3	151164080	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	786168	151164080	46858350	184	11625	22	2									
IGSF10	285313	broad.mit.edu	37	chr3	151164081	151164082	+	Frame_Shift_Ins	INS	-	-	T													ggaagcatcacagctgtgctINStttttgtaaactaactttat					rs36002001		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:151164080_151164081C>CT	uc011bod.2	-	3	3688_3689	c.3688_3689G>AG	c.(3688-3690)agcfs	p.S1230fs		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1230					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CACAGCTGTGCTTTTTTGTAAA	0.381													T	151164082	-	T	151164081	7	5	15	1	0	1	1	0	0	0	0	0	7597	1609	56	0	4243	0	IGSF10	3	151164081	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	1	151164081	46858349	185	11626	22	2									
SI	6476	broad.mit.edu	37	chr3	164758862	164758862	+	Frame_Shift_Del	DEL	A	A	-													accaaaagtgaattctgcccAaaaaatgcaggatcctgatg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:164758862delA	uc003fei.2	-	18	2087	c.2025delT	c.(2023-2025)TTTfs	p.F675fs		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	675	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AATTCTGCCCAAAAAATGCAG	0.333										HNSCC(35;0.089)			-	164758862	A	-	164758862	7	5	15	1	0	1	0	1	0	0	0	0	14297	127	5	0	3582	0	SI	3	164758862	Frame_Shift_Del	DEL	A	TCGA-BR-4280-01A-01D-1126-08	13594781	164758862	33263568	186	11627											
BCHE	590	broad.mit.edu	37	chr3	165491219	165491219	+	Frame_Shift_Del	DEL	T	T	-													tagtgtaatcgttaaattgaTttttccagtccatcatgtaa							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:165491219delT	uc003fem.3	-	4	1920	c.1760delA	c.(1759-1761)AATfs	p.N587fs	BCHE_uc003fen.3_RNA	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	587					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GTTAAATTGATTTTTCCAGTC	0.333													-	165491219	T	-	165491219	7	5	15	1	0	1	0	1	0	0	0	0	1358	1493	52	0	52	0	BCHE	3	165491219	Frame_Shift_Del	DEL	T	TCGA-BR-4280-01A-01D-1126-08	732357	165491219	32531211	187	11628											
SLC7A14	57709	broad.mit.edu	37	chr3	170244644	170244644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactccactggtttggtgcGtaggatcctggagtgcattg	15	8	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:170244644G>A	uc003fgz.2	-	2	398	c.82C>T	c.(82-84)CGC>TGC	p.R28C	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	28						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGTTTGGTGCGTAGGATCCTG	0.587													A	170244644	G	A	170244644	3	1	15	1	0	0	0	0	1	0	0	0	14696	1145	40	1	2261	1	SLC7A14	3	170244644	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	4753425	170244644	27777786	188	11629											
CCDC39	339829	broad.mit.edu	37	chr3	180365986	180365986	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttcttgctgcttcaaggtTtcaaaatccagtttttgtaa	6	7	3	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:180365986T>G	uc010hxe.2	-	10	1444	c.1329A>C	c.(1327-1329)GAA>GAC	p.E443D	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	443	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GCTTCAAGGTTTCAAAATCCA	0.348													G	180365986	T	G	180365986	3	3	15	1	0	0	0	0	1	0	0	0	2811	1838	64	5	1540	5	CCDC39	3	180365986	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	10121342	180365986	17656444	189	11630											
MCCC1	56922	broad.mit.edu	37	chr3	182790190	182790190	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctaattgcagatggaggaGggcctataaaaataattcct	9	7	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:182790190G>T	uc003fle.2	-	5	592	c.455C>A	c.(454-456)CCT>CAT	p.P152H	MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Intron|MCCC1_uc003flg.2_Missense_Mutation_p.P43H|MCCC1_uc011bqp.1_Missense_Mutation_p.P105H|MCCC1_uc011bqq.1_Missense_Mutation_p.P43H	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	152	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	AGATGGAGGAGGGCCTATAAA	0.333													T	182790190	G	T	182790190	3	4	15	1	0	0	0	0	1	0	0	0	9374	1000	35	5	1782	5	MCCC1	3	182790190	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	2424204	182790190	15232240	190	11631											
ALG3	10195	broad.mit.edu	37	chr3	183963113	183963113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtggacacggtaagaggCgcagcacatgaagaaaaaga	15	6	0	4			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:183963113C>T	uc003fne.2	-	4	509	c.478G>A	c.(478-480)GCC>ACC	p.A160T	ALG3_uc011brc.1_Missense_Mutation_p.A125T|ALG3_uc011brd.1_Missense_Mutation_p.A104T|ALG3_uc011bre.1_Missense_Mutation_p.A112T|ALG3_uc003fnf.1_Missense_Mutation_p.A120T|ALG3_uc011brf.1_Missense_Mutation_p.A52T	NM_005787	NP_005778	Q92685	ALG3_HUMAN	alpha-1,3-mannosyltransferase ALG3 isoform a	160	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity				0	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGGTAAGAGGCGCAGCACATG	0.557													T	183963113	C	T	183963113	3	4	15	1	0	0	0	0	1	0	0	0	520	768	27	1	862	1	ALG3	3	183963113	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1172923	183963113	14059317	191	11632											
EIF4G1	1981	broad.mit.edu	37	chr3	184045694	184045694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggcatggtgtcgagtctaCgctggagcgcagtgccattg	15	10	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:184045694C>T	uc003fnp.2	+	26	4055	c.3857C>T	c.(3856-3858)ACG>ATG	p.T1286M	EIF4G1_uc003fnt.2_Missense_Mutation_p.T997M|EIF4G1_uc003fnq.2_Missense_Mutation_p.T1199M|EIF4G1_uc003fnr.2_Missense_Mutation_p.T1122M|EIF4G1_uc010hxx.2_Missense_Mutation_p.T1293M|EIF4G1_uc003fns.2_Missense_Mutation_p.T1246M|EIF4G1_uc010hxy.2_Missense_Mutation_p.T1293M|EIF4G1_uc003fnv.3_Missense_Mutation_p.T1287M|EIF4G1_uc003fnu.3_Missense_Mutation_p.T1286M|EIF4G1_uc003fnw.2_Missense_Mutation_p.T1293M|EIF4G1_uc003fnx.2_Missense_Mutation_p.T1091M|EIF4G1_uc003fny.3_Missense_Mutation_p.T1090M|EIF4G1_uc003foa.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1286	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTCGAGTCTACGCTGGAGCGC	0.597													T	184045694	C	T	184045694	3	4	15	1	0	0	0	0	1	0	0	0	5036	536	19	1	3951	1	EIF4G1	3	184045694	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	82581	184045694	13976736	192	11633											
ATP13A3	79572	broad.mit.edu	37	chr3	194147839	194147839	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacttcataccaaggttgCtgtttgacccaaaaaaaacc	5	12	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:194147839C>T	uc003fty.3	-	28	3492	c.3090G>A	c.(3088-3090)CAG>CAA	p.Q1030Q	ATP13A3_uc003ftx.3_5'Flank	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	1030					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ACCAAGGTTGCTGTTTGACCC	0.358													T	194147839	C	T	194147839	2	4	15	1	0	0	0	0	0	0	0	1	1125	796	28	2		2	ATP13A3	3	194147839	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	10102145	194147839	3874591	193	11634											
ATP13A3	79572	broad.mit.edu	37	chr3	194167727	194167728	+	Frame_Shift_Ins	INS	-	-	T													ctgatacagaaaataccgatINSttttttcagtcttctctgag							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:194167726_194167727A>AT	uc003fty.4	-	12	1828_1829	c.1426_1427T>AT	c.(1426-1428)atcfs	p.I476fs	ATP13A3_uc003ftz.1_Frame_Shift_Ins_p.I182fs	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	476					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GAAAATACCGATTTTTTTCAGT	0.381													T	194167728	-	T	194167727	7	5	15	1	0	1	1	0	0	0	0	0	1125	1493	52	0	2334	0	ATP13A3	3	194167727	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	19888	194167727	3854703	194	11635											
MFI2	4241	broad.mit.edu	37	chr3	196736658	196736658	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctcaccacggccaccacGtagtacgagttgctgctgtc	10	15	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr3:196736658G>A	uc003fxk.3	-	11	1469	c.1356C>T	c.(1354-1356)TAC>TAT	p.Y452Y		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	452	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CGGCCACCACGTAGTACGAGT	0.662													A	196736658	G	A	196736658	2	1	15	1	0	0	0	0	0	0	0	1	9522	1140	40	1		1	MFI2	3	196736658	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	2568931	196736658	1285772	195	11636											
TMEM129	92305	broad.mit.edu	37	chr4	1720065	1720065	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacccacgtgtctgtcacaAtcacacgggcacctggtgca	9	15	4	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:1720065A>G	uc003gdn.2	-	2	1014	c.494T>C	c.(493-495)ATT>ACT	p.I165T	TMEM129_uc010iby.2_RNA|TMEM129_uc003gdm.2_Missense_Mutation_p.I165T	NM_001127266	NP_001120738	A0AVI4	TM129_HUMAN	transmembrane protein 129 isoform a	165	Extracellular (Potential).					integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.00765)			GTCTGTCACAATCACACGGGC	0.607													G	1720065	A	G	1720065	3	3	15	1	0	0	0	0	1	0	0	0	16039	101	4	3	606	3	TMEM129	4	1720065	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08		1720065	189434211	196	11637											
LETM1	3954	broad.mit.edu	37	chr4	1817414	1817414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgaggtcgtcgatgttgaCcttgccatccttgttttcat	10	10	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:1817414C>T	uc003gdv.2	-	13	2344	c.2047G>A	c.(2047-2049)GTC>ATC	p.V683I		NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	683	Mitochondrial matrix (Potential).|EF-hand.|Potential.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TCGATGTTGACCTTGCCATCC	0.602													T	1817414	C	T	1817414	3	4	15	1	0	0	0	0	1	0	0	0	8734	507	18	4	180	4	LETM1	4	1817414	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	97349	1817414	189336862	197	11638											
FAM193A	8603	broad.mit.edu	37	chr4	2701621	2701621	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agactgccccaagttggacaTgctcactagaaatttccagg	9	11	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:2701621T>C	uc010icl.2	+	17	3200	c.2849T>C	c.(2848-2850)ATG>ACG	p.M950T	FAM193A_uc010ick.2_Missense_Mutation_p.M1150T|FAM193A_uc003gfd.2_Missense_Mutation_p.M950T|FAM193A_uc011bvm.1_Missense_Mutation_p.M972T|FAM193A_uc011bvn.1_Missense_Mutation_p.M950T|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.M804T	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	950										ovary(3)	3						AAGTTGGACATGCTCACTAGA	0.453													C	2701621	T	C	2701621	3	2	15	1	0	0	0	0	1	0	0	0	5524	1464	51	3	2907	3	FAM193A	4	2701621	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	884207	2701621	188452655	198	11639											
HTT	3064	broad.mit.edu	37	chr4	3158802	3158802	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtgcatatttttaaagcttCtagacaatctgatacctcag	6	8	3	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:3158802C>A	uc011bvq.1	+	29	3780	c.3635C>A	c.(3634-3636)TCT>TAT	p.S1212Y		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1210					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTTAAAGCTTCTAGACAATCT	0.333													A	3158802	C	A	3158802	3	1	15	1	0	0	0	0	1	0	0	0	7457	913	32	5	3739	5	HTT	4	3158802	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	457181	3158802	187995474	199	11640											
TADA2B	93624	broad.mit.edu	37	chr4	7056720	7056720	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagctacctggacaaagtccTaaagaaaaggattttgaatt	8	6	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:7056720T>C	uc003gjw.3	+	2	1353	c.1202T>C	c.(1201-1203)CTA>CCA	p.L401P	TADA2B_uc010idi.2_Missense_Mutation_p.L326P	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2 (ADA2 homolog,	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding				0						GACAAAGTCCTAAAGAAAAGG	0.493													C	7056720	T	C	7056720	3	2	15	1	0	0	0	0	1	0	0	0	15508	1522	53	3	1208	3	TADA2B	4	7056720	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	3897918	7056720	184097556	200	11641											
LCORL	254251	broad.mit.edu	37	chr4	17887775	17887775	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttgtagagagatctaacActccatcccctataattttt	4	10	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:17887775A>G	uc003gpq.2	-	6	703	c.692T>C	c.(691-693)GTG>GCG	p.V231A	LCORL_uc011bxk.1_Intron	NM_153686	NP_710153	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						GAGATCTAACACTCCATCCCC	0.323													G	17887775	A	G	17887775	3	3	15	1	0	0	0	0	1	0	0	0	8690	159	6	3	1309	3	LCORL	4	17887775	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	10831055	17887775	173266501	201	11642											
PPARGC1A	10891	broad.mit.edu	37	chr4	23814436	23814436	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctcgcttctcatactctctGcgatattcttccctcttcag	4	15	6	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:23814436G>C	uc003gqs.2	-	10	2073	c.1953C>G	c.(1951-1953)CGC>CGG	p.R651R	PPARGC1A_uc003gqt.2_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	651					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				CATACTCTCTGCGATATTCTT	0.453													C	23814436	G	C	23814436	2	2	15	1	0	0	0	0	0	0	0	1	12300	1306	46	5		5	PPARGC1A	4	23814436	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	5926661	23814436	167339840	202	11643											
ARAP2	116984	broad.mit.edu	37	chr4	36115863	36115863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggaataatattttttatcGctaatatatcattagttaat	4	3	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:36115863G>A	uc003gsq.1	-	26	4423	c.4085C>T	c.(4084-4086)GCG>GTG	p.A1362V		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1362	Ras-associating.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						ATTTTTTATCGCTAATATATC	0.313													A	36115863	G	A	36115863	3	1	15	1	0	0	0	0	1	0	0	0	839	1087	38	1	1061	1	ARAP2	4	36115863	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	12301427	36115863	155038413	203	11644											
KLF3	51274	broad.mit.edu	37	chr4	38691476	38691477	+	Frame_Shift_Ins	INS	-	-	C													cccttaatgaactcagtgtcINSccccccgcaagcattgttgc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:38691475_38691476T>TC	uc003gth.4	+	3	1002_1003	c.670_671T>TC	c.(670-672)tccfs	p.S224fs	KLF3_uc003gtg.2_Frame_Shift_Ins_p.S224fs	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	224	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GAACTCAGTGTCCCCCCCGCAA	0.426													C	38691477	-	C	38691476	7	5	15	1	0	1	1	0	0	0	0	0	8347	855	30	0	681	0	KLF3	4	38691476	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	2575613	38691476	152462800	204	11645											
ATP10D	57205	broad.mit.edu	37	chr4	47559698	47559698	+	Frame_Shift_Del	DEL	G	G	-													tagatcagacacccttcactGggggggttgcccattaagtc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:47559698delG	uc003gxk.1	+	12	2006	c.1842delG	c.(1840-1842)CTGfs	p.L614fs	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	614	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						ACCCTTCACTGGGGGGGTTGC	0.403													-	47559698	G	-	47559698	7	5	15	1	0	1	0	1	0	0	0	0	1118	1335	47	0	1884	0	ATP10D	4	47559698	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	8868222	47559698	143594578	205	11646											
CORIN	10699	broad.mit.edu	37	chr4	47746539	47746539	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagtaattcaccatccccaGgactgattcacagccttctt	7	13	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:47746539G>T	uc003gxm.2	-	5	772	c.679C>A	c.(679-681)CTG>ATG	p.L227M	CORIN_uc011bzf.1_Missense_Mutation_p.L88M|CORIN_uc011bzg.1_Missense_Mutation_p.L160M|CORIN_uc011bzh.1_Missense_Mutation_p.L227M|CORIN_uc011bzi.1_Missense_Mutation_p.L227M|CORIN_uc003gxn.3_Missense_Mutation_p.L227M	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	227	Extracellular (Potential).|FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2						ACCATCCCCAGGACTGATTCA	0.443													T	47746539	G	T	47746539	3	4	15	1	0	0	0	0	1	0	0	0	3752	991	35	5	2521	5	CORIN	4	47746539	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	186841	47746539	143407737	206	11647											
KIAA1211	57482	broad.mit.edu	37	chr4	57181919	57181919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatacgaaaaagacccatgCtgggacccagcgaagagaca	11	11	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:57181919C>T	uc003hbk.2	+	8	2642	c.2251C>T	c.(2251-2253)CTG>TTG	p.L751L	KIAA1211_uc010iha.2_Silent_p.L744L|KIAA1211_uc011bzz.1_Silent_p.L661L|KIAA1211_uc003hbm.1_Silent_p.L637L	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	751										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					AAGACCCATGCTGGGACCCAG	0.582													T	57181919	C	T	57181919	2	4	15	1	0	0	0	0	0	0	0	1	8215	796	28	2		2	KIAA1211	4	57181919	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	9435380	57181919	133972357	207	11648											
KIAA1211	57482	broad.mit.edu	37	chr4	57181941	57181941	+	Frame_Shift_Del	DEL	C	C	-													gggacccagcgaagagacagCcccccagcctcctcctgctg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:57181941delC	uc003hbk.2	+	8	2664	c.2273delC	c.(2272-2274)GCCfs	p.A758fs	KIAA1211_uc010iha.2_Frame_Shift_Del_p.A751fs|KIAA1211_uc011bzz.1_Frame_Shift_Del_p.A668fs|KIAA1211_uc003hbm.1_Frame_Shift_Del_p.A644fs	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	758										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					GAAGAGACAGCCCCCCAGCCT	0.592													-	57181941	C	-	57181941	7	5	15	1	0	1	0	1	0	0	0	0	8215	739	26	0	2291	0	KIAA1211	4	57181941	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	22	57181941	133972335	208	11649											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68925166	68925166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtttccactctggcttgccGaagtgtattttgtataggtc	11	8	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:68925166G>A	uc003hdt.1	-	9	1085	c.1036C>T	c.(1036-1038)CGG>TGG	p.R346W	LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	346	Peptidase S1.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						CTGGCTTGCCGAAGTGTATTT	0.363													A	68925166	G	A	68925166	3	1	15	1	0	0	0	0	1	0	0	0	16240	1057	37	1	288	1	TMPRSS11F	4	68925166	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	11743225	68925166	122229110	209	11650											
AFM	173	broad.mit.edu	37	chr4	74364932	74364932	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcactacttgctgtacgcTaagtgaagagtttgcctgtg	10	8	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:74364932T>C	uc003hhb.2	+	11	1422	c.1391T>C	c.(1390-1392)CTA>CCA	p.L464P		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor	464	Albumin 3.				vitamin transport		vitamin E binding			ovary(2)|central_nervous_system(1)	3	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCTGTACGCTAAGTGAAGAG	0.403													C	74364932	T	C	74364932	3	2	15	1	0	0	0	0	1	0	0	0	361	1522	53	3	1433	3	AFM	4	74364932	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	5439766	74364932	116789344	210	11651											
EREG	2069	broad.mit.edu	37	chr4	75246852	75246852	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatgagtcaaaactactgCaggtaatatgtcagaaataa	8	6	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:75246852C>T	uc003hie.1	+	3	442	c.276C>T	c.(274-276)TGC>TGT	p.C92C	EREG_uc003hid.2_Silent_p.C86C	NM_001432	NP_001423	O14944	EREG_HUMAN	epiregulin preproprotein	92	Extracellular (Potential).|EGF-like.				angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|skin(1)	2			Lung(101;0.196)			AAAACTACTGCAGGTAATATG	0.274													T	75246852	C	T	75246852	2	4	15	1	0	0	0	0	0	0	0	1	5220	718	25	2		2	EREG	4	75246852	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	881920	75246852	115907424	211	11652											
NUP54	53371	broad.mit.edu	37	chr4	77065399	77065399	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcccgttgttgtgccaaaAccagtaccaaatccaaaacc	6	13	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:77065399A>G	uc003hjs.2	-	3	326	c.198T>C	c.(196-198)GGT>GGC	p.G66G	NUP54_uc010ije.2_5'UTR|NUP54_uc011cbs.1_5'UTR|NUP54_uc011cbt.1_Intron|NUP54_uc003hjt.2_5'UTR	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	66	Gly-rich.|Thr-rich.|9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				ovary(1)|lung(1)	2						TTGTGCCAAAACCAGTACCAA	0.388													G	77065399	A	G	77065399	2	3	15	1	0	0	0	0	0	0	0	1	10767	30	2	3		3	NUP54	4	77065399	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1818547	77065399	114088877	212	11653											
HELQ	113510	broad.mit.edu	37	chr4	84374977	84374977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcagtggcaaagtctgtaGcatgtttcttatgttcaggg	11	6	4	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:84374977G>A	uc003hom.2	-	2	598	c.419C>T	c.(418-420)GCT>GTT	p.A140V	HELQ_uc010ikb.2_Missense_Mutation_p.A140V|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA|HELQ_uc003hon.1_Missense_Mutation_p.A34V|HELQ_uc003hoo.1_Missense_Mutation_p.A103V|HELQ_uc003hop.1_Missense_Mutation_p.A34V|HELQ_uc003hoq.1_Missense_Mutation_p.A140V|MRPS18C_uc003hor.3_5'Flank|MRPS18C_uc011ccu.1_5'Flank	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	140							ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)|skin(1)	3						AAAGTCTGTAGCATGTTTCTT	0.368								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	84374977	G	A	84374977	3	1	15	1	0	0	0	0	1	0	0	0	7047	971	34	2	2954	2	HELQ	4	84374977	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	7309578	84374977	106779299	213	11654											
WDFY3	23001	broad.mit.edu	37	chr4	85716121	85716121	+	Frame_Shift_Del	DEL	A	A	-													tatgaggggccaaactgggcAaaaaaagacatctattaaag							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:85716121delA	uc003hpd.2	-	20	3587	c.3179delT	c.(3178-3180)TTGfs	p.L1060fs		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1060						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAAACTGGGCAAAAAAAGACA	0.393													-	85716121	A	-	85716121	7	5	15	1	0	1	0	1	0	0	0	0	17267	131	5	0	7597	0	WDFY3	4	85716121	Frame_Shift_Del	DEL	A	TCGA-BR-4280-01A-01D-1126-08	1341144	85716121	105438155	214	11655											
DMP1	1758	broad.mit.edu	37	chr4	88584031	88584031	+	Frame_Shift_Del	DEL	C	C	-													agtgagtccaggggagataaCcccgaccccacaactagtta							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:88584031delC	uc003hqv.2	+	6	1205	c.1101delC	c.(1099-1101)AACfs	p.N367fs	DMP1_uc003hqw.2_Frame_Shift_Del_p.N351fs	NM_004407	NP_004398	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1 isoform 1	367					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			pancreas(1)|skin(1)	2		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GGGGAGATAACCCCGACCCCA	0.537													-	88584031	C	-	88584031	7	5	15	1	0	1	0	1	0	0	0	0	4583	506	18	0	1119	0	DMP1	4	88584031	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	2867910	88584031	102570245	215	11656											
ATOH1	474	broad.mit.edu	37	chr4	94750382	94750382	+	Frame_Shift_Del	DEL	G	G	-													ccgggacgaggtggacggccGgggggagctggtaaggagga							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:94750382delG	uc003hta.1	+	1	305	c.305delG	c.(304-306)CGGfs	p.R102fs		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	atonal homolog 1	102					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GTGGACGGCCGGGGGGAGCTG	0.692													-	94750382	G	-	94750382	7	5	15	1	0	1	0	1	0	0	0	0	1112	1116	39	0	307	0	ATOH1	4	94750382	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	6166351	94750382	96403894	216	11657											
ADH1A	124	broad.mit.edu	37	chr4	100205902	100205903	+	Frame_Shift_Ins	INS	-	-	T													agcagtagttgctctccgggINStttttacaaattctgcattt							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:100205902_100205903insT	uc003hur.1	-	4	388_389	c.317_318insA	c.(316-318)AACfs	p.N106fs	uc003hum.1_Intron|ADH1A_uc011ceg.1_Frame_Shift_Ins_p.N106fs|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.1_Frame_Shift_Ins_p.N106fs	NM_000667	NP_000658	P07327	ADH1A_HUMAN	class I alcohol dehydrogenase, alpha subunit	106					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TGCTCTCCGGGTTTTTACAAAT	0.421													T	100205903	-	T	100205902	7	5	15	1	0	1	1	0	0	0	0	0	307	1252	44	0	833	0	ADH1A	4	100205902	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	5455520	100205902	90948374	217	11658	23	2									
ADH1A	124	broad.mit.edu	37	chr4	100205903	100205904	+	Frame_Shift_Ins	INS	-	-	T													gcagtagttgctctccgggtINSttttacaaattctgcatttt							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:100205902_100205903G>GT	uc003hur.2	-	3	431_432	c.317_318C>AC	c.(316-318)aacfs	p.N106fs	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.2_Frame_Shift_Ins_p.N106fs	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	106					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TGCTCTCCGGGTTTTTACAAAT	0.421													T	100205904	-	T	100205903	7	5	15	1	0	1	1	0	0	0	0	0	307	1725	60	0	834	0	ADH1A	4	100205903	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	1	100205903	90948373	218	11659	23	2									
NFKB1	4790	broad.mit.edu	37	chr4	103517339	103517339	+	Frame_Shift_Del	DEL	A	A	-													aggaccctgaaggttgtgacAaaagtgatgacaaaaacact							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:103517339delA	uc011ceq.1	+	14	1809	c.1342delA	c.(1342-1344)AAAfs	p.K448fs	NFKB1_uc011cep.1_Frame_Shift_Del_p.K449fs|NFKB1_uc011cer.1_Frame_Shift_Del_p.K268fs	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	448	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	AGGTTGTGACAAAAGTGATGA	0.398													-	103517339	A	-	103517339	7	5	15	1	0	1	0	1	0	0	0	0	10375	131	5	0	1395	0	NFKB1	4	103517339	Frame_Shift_Del	DEL	A	TCGA-BR-4280-01A-01D-1126-08	3311436	103517339	87636937	219	11660											
NPNT	255743	broad.mit.edu	37	chr4	106819158	106819158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcttggggacagtgtcagCgtgagtatcaagcctgggga	16	7	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:106819158C>T	uc003hya.2	+	2	377	c.172C>T	c.(172-174)CCT>TCT	p.P58S	NPNT_uc011cfc.1_Missense_Mutation_p.P58S|NPNT_uc011cfd.1_Missense_Mutation_p.P58S|NPNT_uc011cfe.1_Missense_Mutation_p.P58S|NPNT_uc010ilt.1_Missense_Mutation_p.P58S|NPNT_uc011cff.1_Missense_Mutation_p.P58S|NPNT_uc010ilu.1_5'UTR	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	58	EGF-like 1.				cell differentiation	membrane	calcium ion binding			skin(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		ACAGTGTCAGCGTGAGTATCA	0.552													T	106819158	C	T	106819158	3	4	15	1	0	0	0	0	1	0	0	0	10590	782	27	1	178	1	NPNT	4	106819158	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	3301819	106819158	84335118	220	11661											
PAPSS1	9061	broad.mit.edu	37	chr4	108603286	108603286	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcagaatcgatcccagtgAaacctgcaaaaggtaacaga	8	9	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:108603286A>G	uc003hyk.2	-	5	638	c.554T>C	c.(553-555)TTC>TCC	p.F185S	PAPSS1_uc011cfh.1_RNA	NM_005443	NP_005434	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase	185	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		GATCCCAGTGAAACCTGCAAA	0.383													G	108603286	A	G	108603286	3	3	15	1	0	0	0	0	1	0	0	0	11434	246	9	3	1352	3	PAPSS1	4	108603286	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1784128	108603286	82550990	221	11662											
BBS7	55212	broad.mit.edu	37	chr4	122756413	122756413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacatatgcttgtagtgtgCcatactggccttcaattgag	9	9	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:122756413C>T	uc003ied.2	-	14	1571	c.1397G>A	c.(1396-1398)GGC>GAC	p.G466D	BBS7_uc003iee.1_Missense_Mutation_p.G466D	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	466					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1						TTGTAGTGTGCCATACTGGCC	0.373									Bardet-Biedl_syndrome				T	122756413	C	T	122756413	3	4	15	1	0	0	0	0	1	0	0	0	1341	739	26	2	779	2	BBS7	4	122756413	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	14153127	122756413	68397863	222	11663											
FAT4	79633	broad.mit.edu	37	chr4	126239199	126239199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcctggaccgtgaacttGcttcccagattgttctgaat	12	10	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:126239199G>A	uc003ifj.3	+	1	1633	c.1633G>A	c.(1633-1635)GCT>ACT	p.A545T		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	545	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CCGTGAACTTGCTTCCCAGAT	0.522											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	126239199	G	A	126239199	3	1	15	1	0	0	0	0	1	0	0	0	5692	1319	46	2	1635	2	FAT4	4	126239199	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	3482786	126239199	64915077	223	11664											
FAT4	79633	broad.mit.edu	37	chr4	126370559	126370559	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagttacccgtgtcacaacTtctgatgaagacattgggat	9	9	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:126370559T>G	uc003ifj.3	+	9	8388	c.8388T>G	c.(8386-8388)ACT>ACG	p.T2796T	FAT4_uc011cgp.1_Silent_p.T1094T|FAT4_uc003ifi.1_Silent_p.T274T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2796	Cadherin 27.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GTGTCACAACTTCTGATGAAG	0.373													G	126370559	T	G	126370559	2	3	15	1	0	0	0	0	0	0	0	1	5692	1596	56	5		5	FAT4	4	126370559	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	131360	126370559	64783717	224	11665											
FAT4	79633	broad.mit.edu	37	chr4	126372301	126372301	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaggtattggccaagaActttggcagcattagaggtg	13	5	0	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:126372301A>T	uc003ifj.3	+	9	10130	c.10130A>T	c.(10129-10131)AAC>ATC	p.N3377I	FAT4_uc011cgp.1_Missense_Mutation_p.N1675I|FAT4_uc003ifi.1_Missense_Mutation_p.N855I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3377	Cadherin 32.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TTGGCCAAGAACTTTGGCAGC	0.398													T	126372301	A	T	126372301	3	4	15	1	0	0	0	0	1	0	0	0	5692	43	2	5	10164	5	FAT4	4	126372301	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1742	126372301	64781975	225	11666											
FAT4	79633	broad.mit.edu	37	chr4	126411350	126411350	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagctgcccagactcgcacaCgggaaggacctgtgagatgg	14	11	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:126411350C>A	uc003ifj.3	+	17	13373	c.13373C>A	c.(13372-13374)ACG>AAG	p.T4458K	FAT4_uc011cgp.1_Missense_Mutation_p.T2699K|FAT4_uc003ifi.1_Missense_Mutation_p.T1935K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4458	EGF-like 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GACTCGCACACGGGAAGGACC	0.632													A	126411350	C	A	126411350	3	1	15	1	0	0	0	0	1	0	0	0	5692	536	19	5	13439	5	FAT4	4	126411350	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	39049	126411350	64742926	226	11667											
CLGN	1047	broad.mit.edu	37	chr4	141313502	141313502	+	Frame_Shift_Del	DEL	T	T	-													ttgtggtatacatatgtcggTttttttatactctgtatctt							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:141313501_141313501GT>G	uc011chi.2	-	13	1741	c.1523_1523AC>C	c.(1522-1524)accfs	p.T508fs	CLGN_uc003iii.3_Frame_Shift_Del_p.T508fs	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	508					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					ACATATGTCGGTTTTTTTATA	0.328													-	141313502	T	-	141313502	7	5	15	1	0	1	0	1	0	0	0	0	3524	1725	60	0	322	0	CLGN	4	141313502	Frame_Shift_Del	DEL	T	TCGA-BR-4280-01A-01D-1126-08	14902152	141313502	49840774	227	11668											
INPP4B	8821	broad.mit.edu	37	chr4	143003205	143003205	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttctcatgcaatccagcgctCggataaagaagtccttgtgt	9	10	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:143003205C>A	uc003iix.3	-	26	3216	c.2621G>T	c.(2620-2622)CGA>CTA	p.R874L	INPP4B_uc003iiw.3_Missense_Mutation_p.R874L|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.R689L|INPP4B_uc011cho.1_RNA	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	874					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					ATCCAGCGCTCGGATAAAGAA	0.348													A	143003205	C	A	143003205	3	1	15	1	0	0	0	0	1	0	0	0	7753	884	31	5	161	5	INPP4B	4	143003205	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1689703	143003205	48151071	228	11669											
LRBA	987	broad.mit.edu	37	chr4	151773180	151773180	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagagacactaccatgacAatcattaattaatttggttt	5	8	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:151773180A>G	uc010ipj.2	-	23	4156	c.3682T>C	c.(3682-3684)TGT>CGT	p.C1228R	LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Missense_Mutation_p.C1228R	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1228						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					CTACCATGACAATCATTAATT	0.428													G	151773180	A	G	151773180	3	3	15	1	0	0	0	0	1	0	0	0	8931	130	5	3	5053	3	LRBA	4	151773180	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	8769975	151773180	39381096	229	11670											
KIAA0922	23240	broad.mit.edu	37	chr4	154519772	154519772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgttattgacatgattggCgtggaaggatttggagcaag	14	4	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:154519772C>T	uc003inm.3	+	21	2203	c.2151C>T	c.(2149-2151)GGC>GGT	p.G717G	KIAA0922_uc010ipp.2_Silent_p.G718G|KIAA0922_uc010ipq.2_Silent_p.G486G	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	717	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				ACATGATTGGCGTGGAAGGAT	0.418													T	154519772	C	T	154519772	2	4	15	1	0	0	0	0	0	0	0	1	8201	755	27	1		1	KIAA0922	4	154519772	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2746592	154519772	36634504	230	11671											
GUCY1A3	2982	broad.mit.edu	37	chr4	156631766	156631766	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgttacgaggaagatgaaaAcatccttggggtggttggag	15	4	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:156631766A>G	uc003iov.2	+	7	985	c.449A>G	c.(448-450)AAC>AGC	p.N150S	GUCY1A3_uc003iou.2_Missense_Mutation_p.N150S|GUCY1A3_uc010iqc.2_Missense_Mutation_p.N150S|GUCY1A3_uc003iow.2_Missense_Mutation_p.N150S|GUCY1A3_uc010iqd.2_Missense_Mutation_p.N149S|GUCY1A3_uc003iox.2_Missense_Mutation_p.N150S|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.N150S|GUCY1A3_uc010iqe.2_Intron|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.N150S	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	150				VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GAAGATGAAAACATCCTTGGG	0.418													G	156631766	A	G	156631766	3	3	15	1	0	0	0	0	1	0	0	0	6894	43	2	3	463	3	GUCY1A3	4	156631766	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	2111994	156631766	34522510	231	11672											
CTSO	1519	broad.mit.edu	37	chr4	156849508	156849508	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaaacattacttcccattTtgacatgggcataaccatct	4	12	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:156849508T>G	uc003ipg.2	-	7	960	c.911A>C	c.(910-912)AAA>ACA	p.K304T		NM_001334	NP_001325	P43234	CATO_HUMAN	cathepsin O preproprotein	304					proteolysis	lysosome	cysteine-type endopeptidase activity				0	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		ACTTCCCATTTTGACATGGGC	0.343													G	156849508	T	G	156849508	3	3	15	1	0	0	0	0	1	0	0	0	4040	1841	64	5	62	5	CTSO	4	156849508	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	217742	156849508	34304768	232	11673											
MARCH1	55016	broad.mit.edu	37	chr4	164506986	164506986	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatctgagctctttatccacTggtggaggcaggactggtgg	14	8	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:164506986T>C	uc003iqs.1	-	6	1315	c.338A>G	c.(337-339)CAG>CGG	p.Q113R	MARCH1_uc003iqr.1_Missense_Mutation_p.Q96R	NM_017923	NP_060393	Q8TCQ1	MARH1_HUMAN	membrane-associated RING-CH protein I	113	RING-CH-type.				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTTTATCCACTGGTGGAGGCA	0.537													C	164506986	T	C	164506986	3	2	15	1	0	0	0	0	1	0	0	0	9298	1580	55	3	543	3	MARCH1	4	164506986	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	7657478	164506986	26647290	233	11674											
GPM6A	2823	broad.mit.edu	37	chr4	176556153	176556155	+	In_Frame_Del	DEL	CGG	CGG	-													tgtcttcatacttctgcatcCggcaggcgtctttcacatag							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:176556153_176556155delCGG	uc003iuf.2	-	7	1542_1544	c.738_740delCCG	c.(736-741)TGCCGG>TGG	p.246_247CR>W	GPM6A_uc011ckj.1_In_Frame_Del_p.239_240CR>W|GPM6A_uc003iug.2_In_Frame_Del_p.246_247CR>W|GPM6A_uc003iuh.2_In_Frame_Del_p.235_236CR>W	NM_201591	NP_963885	P51674	GPM6A_HUMAN	glycoprotein M6A isoform 2	246_247	Cytoplasmic (Potential).					cell surface|integral to membrane					0		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CTTCTGCATCCGGCAGGCGTCTT	0.429													-	176556155	CGG	-	176556153	7	5	15	1	0	1	0	1	0	0	0	0	6615	652	23	0	100	0	GPM6A	4	176556153	In_Frame_Del	DEL	CGG	TCGA-BR-4280-01A-01D-1126-08	12049167	176556153	14598123	234	11675											
TRIML2	205860	broad.mit.edu	37	chr4	189013038	189013038	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctcaatctcatagttctcAggtcctcagatagtgccagg	9	11	4	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr4:189013038A>C	uc003izl.2	-	7	689	c.653T>G	c.(652-654)CTG>CGG	p.L218R	TRIML2_uc003izj.1_Missense_Mutation_p.L46R|TRIML2_uc003izk.1_Missense_Mutation_p.L26R|TRIML2_uc011cle.1_Missense_Mutation_p.L293R	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	218	B30.2/SPRY.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CATAGTTCTCAGGTCCTCAGA	0.502													C	189013038	A	C	189013038	3	2	15	1	0	0	0	0	1	0	0	0	16548	188	7	5	514	5	TRIML2	4	189013038	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	12456885	189013038	2141238	235	11676											
CTNND2	1501	broad.mit.edu	37	chr5	11346569	11346569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggccggatttgctgtatgGagactcaacagagggacaat	14	7	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:11346569G>A	uc003jfa.1	-	9	1688	c.1543C>T	c.(1543-1545)CCA>TCA	p.P515S	CTNND2_uc010itt.2_Missense_Mutation_p.P424S|CTNND2_uc011cmy.1_Missense_Mutation_p.P178S|CTNND2_uc011cmz.1_Missense_Mutation_p.P82S|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.P82S	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	515					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						TTGCTGTATGGAGACTCAACA	0.602													A	11346569	G	A	11346569	3	1	15	1	0	0	0	0	1	0	0	0	4020	1174	41	4	2190	4	CTNND2	5	11346569	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08		11346569	169568691	236	11677											
DNAH5	1767	broad.mit.edu	37	chr5	13766090	13766090	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cactgaactaccaacctgtaAgttctgtaaaaagttccctg	6	11	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:13766090A>C	uc003jfd.2	-	59	10138	c.10096T>G	c.(10096-10098)TTA>GTA	p.L3366V	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3366	Stalk (By similarity).				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)					CCAACCTGTAAGTTCTGTAAA	0.408									Kartagener_syndrome				C	13766090	A	C	13766090	3	2	15	1	0	0	0	0	1	0	0	0	4604	69	3	5	3862	5	DNAH5	5	13766090	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	2419521	13766090	167149170	237	11678											
CDH12	1010	broad.mit.edu	37	chr5	21802491	21802491	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggttggaagcctcaacTttgaaagtgtatgccttctt	10	7	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:21802491T>G	uc010iuc.2	-	7	1499	c.1041A>C	c.(1039-1041)AAA>AAC	p.K347N	CDH12_uc011cno.1_Missense_Mutation_p.K307N|CDH12_uc003jgk.2_Missense_Mutation_p.K347N	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	347	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						AAGCCTCAACTTTGAAAGTGT	0.438										HNSCC(59;0.17)			G	21802491	T	G	21802491	3	3	15	1	0	0	0	0	1	0	0	0	3098	1606	56	5	1367	5	CDH12	5	21802491	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	8036401	21802491	159112769	238	11679											
CDH10	1008	broad.mit.edu	37	chr5	24509890	24509890	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgttttctgcttcgacTttcagagtataaagtcttcg	10	7	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:24509890T>C	uc003jgr.1	-	7	1373	c.1041A>G	c.(1039-1041)AAA>AAG	p.K347K	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	347	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		CTGCTTCGACTTTCAGAGTAT	0.378										HNSCC(23;0.051)			C	24509890	T	C	24509890	2	2	15	1	0	0	0	0	0	0	0	1	3096	1606	56	3		3	CDH10	5	24509890	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	2707399	24509890	156405370	239	11680											
PDZD2	23037	broad.mit.edu	37	chr5	32074648	32074648	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcacagacagtgaacctgActggcagagccaatgatcca	10	12	1	5			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:32074648A>G	uc003jhl.2	+	18	3824	c.3436A>G	c.(3436-3438)ACT>GCT	p.T1146A	PDZD2_uc003jhm.2_Missense_Mutation_p.T1146A|PDZD2_uc011cnx.1_Missense_Mutation_p.T972A	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1146					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						AGTGAACCTGACTGGCAGAGC	0.597													G	32074648	A	G	32074648	3	3	15	1	0	0	0	0	1	0	0	0	11701	275	10	3	3502	3	PDZD2	5	32074648	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	7564758	32074648	148840612	240	11681											
PDZD2	23037	broad.mit.edu	37	chr5	32098700	32098700	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccacagccaatgggaagggTttgctgtccagaaagaccat	11	11	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:32098700T>C	uc003jhl.2	+	23	8566	c.8178T>C	c.(8176-8178)GGT>GGC	p.G2726G	PDZD2_uc003jhm.2_Silent_p.G2726G|PDZD2_uc003jhn.2_5'Flank	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	2726					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						ATGGGAAGGGTTTGCTGTCCA	0.557													C	32098700	T	C	32098700	2	2	15	1	0	0	0	0	0	0	0	1	11701	1712	60	3		3	PDZD2	5	32098700	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	24052	32098700	148816560	241	11682											
SPEF2	79925	broad.mit.edu	37	chr5	35641550	35641550	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggtttcaagtgccaaacTtaataatttttctcgcttgg	8	8	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:35641550T>G	uc003jjo.2	+	3	290	c.179T>G	c.(178-180)CTT>CGT	p.L60R	SPEF2_uc003jjn.1_Missense_Mutation_p.L60R|SPEF2_uc003jjq.3_Missense_Mutation_p.L60R	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	60	CH.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTGCCAAACTTAATAATTTT	0.368													G	35641550	T	G	35641550	3	3	15	1	0	0	0	0	1	0	0	0	15034	1609	56	5	189	5	SPEF2	5	35641550	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	3542850	35641550	145273710	242	11683											
SPEF2	79925	broad.mit.edu	37	chr5	35793420	35793420	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaggagcagttgggcaccAtcacttttgagcagtatatg	11	7	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:35793420A>G	uc003jjo.2	+	32	4825	c.4714A>G	c.(4714-4716)ATC>GTC	p.I1572V	SPEF2_uc003jjp.1_Missense_Mutation_p.I1058V|SPEF2_uc003jjr.2_Missense_Mutation_p.I627V	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1572					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTTGGGCACCATCACTTTTGA	0.468													G	35793420	A	G	35793420	3	3	15	1	0	0	0	0	1	0	0	0	15034	217	8	3	4861	3	SPEF2	5	35793420	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	151870	35793420	145121840	243	11684											
NUP155	9631	broad.mit.edu	37	chr5	37299658	37299658	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagtttaaatgggtcagcaaAttccccataaagctgtgaga	9	7	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:37299658A>T	uc003jku.1	-	31	3692	c.3574T>A	c.(3574-3576)TTT>ATT	p.F1192I	NUP155_uc003jkt.1_Missense_Mutation_p.F1133I|NUP155_uc010iuz.1_Missense_Mutation_p.F1128I	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	1192					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGGTCAGCAAATTCCCCATAA	0.358													T	37299658	A	T	37299658	3	4	15	1	0	0	0	0	1	0	0	0	10756	101	4	5	621	5	NUP155	5	37299658	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1506238	37299658	143615602	244	11685											
HCN1	348980	broad.mit.edu	37	chr5	45396642	45396642	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagagactggattaaagcGgtggcatggccgacaaacat	12	9	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:45396642G>A	uc003jok.2	-	4	1207	c.1182C>T	c.(1180-1182)ACC>ACT	p.T394T		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	394	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						GGATTAAAGCGGTGGCATGGC	0.498													A	45396642	G	A	45396642	2	1	15	1	0	0	0	0	0	0	0	1	6996	1103	39	1		1	HCN1	5	45396642	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	8096984	45396642	135518618	245	11686											
SKIV2L2	23517	broad.mit.edu	37	chr5	54674186	54674186	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataataaaatagtaattcccAatgaagaaagtgtggttatc	7	4	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:54674186A>G	uc003jpy.3	+	17	2121	c.1855A>G	c.(1855-1857)AAT>GAT	p.N619D	SKIV2L2_uc011cqi.1_Missense_Mutation_p.N518D	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	619					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)|skin(1)	2		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				AGTAATTCCCAATGAAGAAAG	0.274													G	54674186	A	G	54674186	3	3	15	1	0	0	0	0	1	0	0	0	14360	130	5	3	1921	3	SKIV2L2	5	54674186	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	9277544	54674186	126241074	246	11687											
MAP3K1	4214	broad.mit.edu	37	chr5	56181765	56181765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctattgtcttatagggggatCggtggctcatttgctgagta	13	6	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:56181765C>T	uc003jqw.3	+	17	4490	c.3989C>T	c.(3988-3990)TCG>TTG	p.S1330L		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	1330	Protein kinase.				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATAGGGGGATCGGTGGCTCAT	0.343													T	56181765	C	T	56181765	3	4	15	1	0	0	0	0	1	0	0	0	9243	893	31	1	4055	1	MAP3K1	5	56181765	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1507579	56181765	124733495	247	11688											
RGS7BP	401190	broad.mit.edu	37	chr5	63871704	63871704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctaaaatccatatgtctgCtggggtctcttcagtttcat	8	9	4	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:63871704C>T	uc003jtj.2	+	3	436	c.436C>T	c.(436-438)CTG>TTG	p.L146L	RGS7BP_uc011cqu.1_Silent_p.L13L	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding	146					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane					0		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CATATGTCTGCTGGGGTCTCT	0.418													T	63871704	C	T	63871704	2	4	15	1	0	0	0	0	0	0	0	1	13311	796	28	2		2	RGS7BP	5	63871704	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	7689939	63871704	117043556	248	11689											
NLN	57486	broad.mit.edu	37	chr5	65105422	65105422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatgcttgaaaattgggtGtgggacgtcgattccctccg	12	9	0	1	rs140799100	byFrequency	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:65105422G>A	uc003juf.2	+	10	1724	c.1608G>A	c.(1606-1608)GTG>GTA	p.V536V	NLN_uc003jug.2_Silent_p.V365V|NLN_uc010iww.2_Silent_p.V213V	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	neurolysin precursor	536					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AAAATTGGGTGTGGGACGTCG	0.428													A	65105422	G	A	65105422	2	1	15	1	0	0	0	0	0	0	0	1	10467	1364	48	4		4	NLN	5	65105422	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1233718	65105422	115809838	249	11690											
NLN	57486	broad.mit.edu	37	chr5	65105492	65105492	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccctattgcagacgatctgCttgaaaaacttgttgcttct	8	10	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:65105492C>A	uc003juf.2	+	10	1794	c.1678C>A	c.(1678-1680)CTT>ATT	p.L560I	NLN_uc003jug.2_Missense_Mutation_p.L389I|NLN_uc010iww.2_Missense_Mutation_p.L237I	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	neurolysin precursor	560					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AGACGATCTGCTTGAAAAACT	0.393													A	65105492	C	A	65105492	3	1	15	1	0	0	0	0	1	0	0	0	10467	797	28	5	1716	5	NLN	5	65105492	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	70	65105492	115809768	250	11691											
TBCA	6902	broad.mit.edu	37	chr5	77004142	77004142	+	Frame_Shift_Del	DEL	T	T	-													tcttcttgttgttttgcctcTttttcatacatcactttttc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:77004141_77004141CT>C	uc003kfh.1	-	1	189	c.85_85AG>G	c.(85-87)gagfs	p.E29fs	TBCA_uc003kfi.1_Frame_Shift_Del_p.E29fs	NM_004607	NP_004598	O75347	TBCA_HUMAN	Homo sapiens tubulin folding cofactor A (TBCA), mRNA.	29					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly	cytoplasm|microtubule	chaperone binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		TGTTTTGCCTCTTTTTCATAC	0.284													-	77004142	T	-	77004142	7	5	15	1	0	1	0	1	0	0	0	0	15626	1606	56	0	254	0	TBCA	5	77004142	Frame_Shift_Del	DEL	T	TCGA-BR-4280-01A-01D-1126-08	11898650	77004142	103911118	251	11692											
FAM151B	167555	broad.mit.edu	37	chr5	79837571	79837571	+	Frame_Shift_Del	DEL	A	A	-													acattagagaccattttgacAaaaaacaagttttctatgac							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:79837571delA	uc003kgv.1	+	6	894	c.751delA	c.(751-753)AAAfs	p.K251fs	FAM151B_uc010jal.1_RNA	NM_205548	NP_991111	Q6UXP7	F151B_HUMAN	hypothetical protein LOC167555	251											0		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		CCATTTTGACAAAAAACAAGT	0.308													-	79837571	A	-	79837571	7	5	15	1	0	1	0	1	0	0	0	0	5459	131	5	0	773	0	FAM151B	5	79837571	Frame_Shift_Del	DEL	A	TCGA-BR-4280-01A-01D-1126-08	2833429	79837571	101077689	252	11693											
VCAN	1462	broad.mit.edu	37	chr5	82816658	82816658	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggataaagacatcccaAgtttcactgaagatggagca	10	7	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:82816658A>G	uc003kii.3	+	7	2889	c.2533A>G	c.(2533-2535)AGT>GGT	p.S845G	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.S845G|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	845	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGACATCCCAAGTTTCACTGA	0.428													G	82816658	A	G	82816658	3	3	15	1	0	0	0	0	1	0	0	0	17135	72	3	3	2555	3	VCAN	5	82816658	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	2979087	82816658	98098602	253	11694											
GPR98	84059	broad.mit.edu	37	chr5	89923350	89923350	+	Frame_Shift_Del	DEL	T	T	-													tcagccaaacacaactgttgTttttccaccttttattcatg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:89923350delT	uc003kju.2	+	7	1091	c.995delT	c.(994-996)GTTfs	p.V332fs	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	332	Calx-beta 3.|Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACAACTGTTGTTTTTCCACCT	0.373													-	89923350	T	-	89923350	7	5	15	1	0	1	0	1	0	0	0	0	6721	1725	60	0	1021	0	GPR98	5	89923350	Frame_Shift_Del	DEL	T	TCGA-BR-4280-01A-01D-1126-08	7106692	89923350	90991910	254	11695											
GDF9	2661	broad.mit.edu	37	chr5	132197386	132197386	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggggctgtatttggcaggTacacatgacggtcttggcac	14	8	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:132197386T>C	uc003kxz.1	-	2	1512	c.1260A>G	c.(1258-1260)GTA>GTG	p.V420V	GDF9_uc011cxj.1_Silent_p.V332V	NM_005260	NP_005251	O60383	GDF9_HUMAN	growth differentiation factor 9 precursor	420					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			skin(1)	1		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTTGGCAGGTACACATGACG	0.483													C	132197386	T	C	132197386	2	2	15	1	0	0	0	0	0	0	0	1	6319	1625	57	3		3	GDF9	5	132197386	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	42274036	132197386	48717874	255	11696											
AFF4	27125	broad.mit.edu	37	chr5	132234075	132234075	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactattatggtgtgaaggTtcagagttactaaaagagat	10	4	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:132234075T>C	uc003kyd.2	-	10	1644	c.1236A>G	c.(1234-1236)GAA>GAG	p.E412E	AFF4_uc011cxk.1_Silent_p.E90E|AFF4_uc003kye.1_Silent_p.E412E	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	412	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTGTGAAGGTTCAGAGTTAC	0.363													C	132234075	T	C	132234075	2	2	15	1	0	0	0	0	0	0	0	1	359	1722	60	3		3	AFF4	5	132234075	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	36689	132234075	48681185	256	11697											
KIF20A	10112	broad.mit.edu	37	chr5	137518981	137518981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttatgacctattagaacCgcctagccaacagcgcaaga	8	12	0	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:137518981C>T	uc003lcj.2	+	8	1452	c.956C>T	c.(955-957)CCG>CTG	p.P319L	KIF20A_uc011cyo.1_Missense_Mutation_p.P301L	NM_005733	NP_005724	O95235	KI20A_HUMAN	kinesin family member 20A	319	Kinesin-motor.				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTATTAGAACCGCCTAGCCAA	0.493													T	137518981	C	T	137518981	3	4	15	1	0	0	0	0	1	0	0	0	8286	652	23	1	982	1	KIF20A	5	137518981	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	5284906	137518981	43396279	257	11698											
IK	3550	broad.mit.edu	37	chr5	140032593	140032594	+	Frame_Shift_Ins	INS	-	-	GA													gctacgccaacaagaaattgINSagagagagagagagctagca							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:140032592_140032593T>TGA	uc003lgq.3	+	4	377_378	c.267_268T>TGA	c.(265-270)attgagfs	p.I89fs	IK_uc011czk.1_Frame_Shift_Ins_p.I89fs|IK_uc021yen.1_Frame_Shift_Ins_p.I30fs	NM_006083	NP_006074	Q13123	RED_HUMAN	Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.	89					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAAGAAATTGAGAGAGAGAG	0.465													GA	140032594	-	GA	140032593	7	5	15	1	0	1	1	0	0	0	0	0	7608	1291	45	0	286	0	IK	5	140032593	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	2513612	140032593	40882667	258	11699											
PCDHA3	56145	broad.mit.edu	37	chr5	140181171	140181171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggacattaatgacaacgCgccagtttttccaatggctg	10	9	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:140181171C>T	uc003lhf.2	+	1	389	c.389C>T	c.(388-390)GCG>GTG	p.A130V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A130V	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	130	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGACAACGCGCCAGTTTTT	0.542													T	140181171	C	T	140181171	3	4	15	1	0	0	0	0	1	0	0	0	11525	768	27	1	391	1	PCDHA3	5	140181171	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	148578	140181171	40734089	259	11700											
PCDHB8	56128	broad.mit.edu	37	chr5	140559946	140559946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtattacctaatattcagggCcattcttttgggccagaaat	8	8	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:140559946C>T	uc011dai.1	+	1	2517	c.2331C>T	c.(2329-2331)GGC>GGT	p.G777G	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	777	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATATTCAGGGCCATTCTTTTG	0.408													T	140559946	C	T	140559946	2	4	15	1	0	0	0	0	0	0	0	1	11548	726	26	2		2	PCDHB8	5	140559946	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	378775	140559946	40355314	260	11701											
PCDHB11	56125	broad.mit.edu	37	chr5	140581381	140581381	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctccctgaggcggcaccGgcccaggcccaggccgactc	13	20	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:140581381G>A	uc003liy.2	+	1	2034	c.2034G>A	c.(2032-2034)CCG>CCA	p.P678P	PCDHB11_uc011daj.1_Silent_p.P313P	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	678	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCGGCACCGGCCCAGGCCC	0.687													A	140581381	G	A	140581381	2	1	15	1	0	0	0	0	0	0	0	1	11536	1103	39	1		1	PCDHB11	5	140581381	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	21435	140581381	40333879	261	11702											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719048	140719048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaacgcccttcagaagtaCgcactcaacccaaatgacca	7	14	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:140719048C>T	uc003ljk.1	+	1	695	c.510C>T	c.(508-510)TAC>TAT	p.Y170Y	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.Y170Y	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	170	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAGAAGTACGCACTCAACC	0.537													T	140719048	C	T	140719048	2	4	15	1	0	0	0	0	0	0	0	1	11554	547	19	1		1	PCDHGA2	5	140719048	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	137667	140719048	40196212	262	11703											
PPP2R2B	5521	broad.mit.edu	37	chr5	145969652	145969652	+	Frame_Shift_Del	DEL	C	C	-													tctcgtcttttctccgcttgCcccccacacacacttttcgg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:145969651_145969651GC>G	uc011dbv.2	-	10	1628	c.1365_1365GC>C	c.(1363-1365)ggcfs	p.G455fs	PPP2R2B_uc010jgm.3_Frame_Shift_Del_p.G386fs|PPP2R2B_uc003loe.3_Frame_Shift_Del_p.G397fs|PPP2R2B_uc003log.4_Frame_Shift_Del_p.G397fs|PPP2R2B_uc003lof.4_Frame_Shift_Del_p.G397fs|PPP2R2B_uc003loi.4_Frame_Shift_Del_p.G400fs|PPP2R2B_uc003loh.4_Frame_Shift_Del_p.G397fs|PPP2R2B_uc003lok.4_Frame_Shift_Del_p.G386fs|PPP2R2B_uc003loj.4_Frame_Shift_Del_p.G377fs|PPP2R2B_uc011dbu.2_Frame_Shift_Del_p.G403fs	NM_181675	NP_858061	Q00005	2ABB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA.	397					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCCGCTTGCCCCCCACAC	0.502													-	145969652	C	-	145969652	7	5	15	1	0	1	0	1	0	0	0	0	12385	739	26	0	145	0	PPP2R2B	5	145969652	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	5250604	145969652	34945608	263	11704											
PPARGC1B	133522	broad.mit.edu	37	chr5	149212845	149212845	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcttcacccaagagcacCgggcccagaccaagcctgcg	11	17	1	2	rs141686848		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:149212845C>T	uc003lrc.2	+	5	1251	c.1209C>T	c.(1207-1209)ACC>ACT	p.T403T	PPARGC1B_uc003lrb.1_Silent_p.T403T|PPARGC1B_uc003lrd.2_Silent_p.T364T|PPARGC1B_uc003lrf.2_Silent_p.T382T|PPARGC1B_uc003lre.1_Silent_p.T382T	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	403					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCAAGAGCACCGGGCCCAGAC	0.602													T	149212845	C	T	149212845	2	4	15	1	0	0	0	0	0	0	0	1	12301	639	23	1		1	PPARGC1B	5	149212845	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	3243193	149212845	31702415	264	11705											
TCOF1	6949	broad.mit.edu	37	chr5	149769545	149769545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagcagcaaggagtccagtCggatatcagatggcaagaaa	13	8	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:149769545C>T	uc003lry.2	+	19	3250	c.3142C>T	c.(3142-3144)CGG>TGG	p.R1048W	TCOF1_uc011dch.1_Missense_Mutation_p.R1048W|TCOF1_uc003lrz.2_Missense_Mutation_p.R1048W|TCOF1_uc003lrx.2_Missense_Mutation_p.R971W|TCOF1_uc003lsa.2_Missense_Mutation_p.R971W	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1048					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGTCCAGTCGGATATCAGA	0.592													T	149769545	C	T	149769545	3	4	15	1	0	0	0	0	1	0	0	0	15705	875	31	1	3238	1	TCOF1	5	149769545	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	556700	149769545	31145715	265	11706											
DCTN4	51164	broad.mit.edu	37	chr5	150095168	150095168	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggttctgccaactcatcGtactctgctgctgcatcctt	8	13	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:150095168G>A	uc003lsv.2	-	12	1230	c.1128C>T	c.(1126-1128)TAC>TAT	p.Y376Y	DCTN4_uc003lsu.2_Silent_p.Y319Y|DCTN4_uc010jhi.2_Silent_p.Y383Y	NM_016221	NP_057305	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62) isoform b	376						centrosome|nucleus	protein N-terminus binding			central_nervous_system(1)	1		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAACTCATCGTACTCTGCTG	0.502													A	150095168	G	A	150095168	2	1	15	1	0	0	0	0	0	0	0	1	4309	1140	40	1		1	DCTN4	5	150095168	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	325623	150095168	30820092	266	11707											
FAT2	2196	broad.mit.edu	37	chr5	150917385	150917385	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagcttgaattcatgcgcCccagggccatgcagagaata	10	12	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:150917385C>A	uc003lue.3	-	11	9175	c.9162G>T	c.(9160-9162)GGG>GGT	p.G3054G	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3054	Extracellular (Potential).|Cadherin 27.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTCATGCGCCCCAGGGCCAT	0.463													A	150917385	C	A	150917385	2	1	15	1	0	0	0	0	0	0	0	1	5690	610	22	5		5	FAT2	5	150917385	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	822217	150917385	29997875	267	11708											
GALNT10	55568	broad.mit.edu	37	chr5	153760082	153760082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accatgacgactttcggtacGagacacaggcaggggatgcc	13	11	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:153760082G>A	uc003lvh.2	+	6	961	c.829G>A	c.(829-831)GAG>AAG	p.E277K	GALNT10_uc003lvg.1_Missense_Mutation_p.E277K|GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Missense_Mutation_p.E118K	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	277	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CTTTCGGTACGAGACACAGGC	0.542													A	153760082	G	A	153760082	3	1	15	1	0	0	0	0	1	0	0	0	6208	1059	37	1	851	1	GALNT10	5	153760082	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	2842697	153760082	27155178	268	11709											
KIF4B	285643	broad.mit.edu	37	chr5	154395578	154395580	+	In_Frame_Del	DEL	AAC	AAC	-													actcaaggatgctctccagaAacaacgagaggtcacagata							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:154395578_154395580delAAC	uc010jih.1	+	1	2319_2321	c.2159_2161delAAC	c.(2158-2163)AAACAA>AAA	p.Q721del		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	721	Interaction with PRC1 (By similarity).|Potential.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTCTCCAGAAACAACGAGAGGT	0.463													-	154395580	AAC	-	154395578	7	5	15	1	0	1	0	1	0	0	0	0	8304	14	1	0	2161	0	KIF4B	5	154395578	In_Frame_Del	DEL	AAC	TCGA-BR-4280-01A-01D-1126-08	635496	154395578	26519682	269	11710											
C5orf54	63920	broad.mit.edu	37	chr5	159821646	159821646	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcatccctcagttttgtAggcaatgtctttatgacaag	9	8	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:159821646A>G	uc003lye.1	-	2	1316	c.852T>C	c.(850-852)CCT>CCC	p.P284P	C5orf54_uc003lyf.1_Silent_p.P284P	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN	transposon-derived Buster3 transposase-like	284										pancreas(1)	1						tcagttttgtaggcaatgtct	0													G	159821646	A	G	159821646	2	3	15	1	0	0	0	0	0	0	0	1	2310	407	15	3		3	C5orf54	5	159821646	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	5426068	159821646	21093614	270	11711											
CCDC99	54908	broad.mit.edu	37	chr5	169031164	169031164	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaattacaccctattctaTatgtgtcttctaaatctact	3	9	4	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:169031164T>C	uc003mae.3	+	12	2050	c.1771T>C	c.(1771-1773)TAT>CAT	p.Y591H	CCDC99_uc011deq.1_Missense_Mutation_p.Y408H|CCDC99_uc010jjk.2_Missense_Mutation_p.Y317H	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	coiled-coil domain containing 99	591					cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			ovary(1)|liver(1)	2	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCTATTCTATATGTGTCTTC	0.368													C	169031164	T	C	169031164	3	2	15	1	0	0	0	0	1	0	0	0	2876	1406	49	3	1813	3	CCDC99	5	169031164	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	9209518	169031164	11884096	271	11712											
DRD1	1812	broad.mit.edu	37	chr5	174869692	174869692	+	Frame_Shift_Del	DEL	G	G	-													atcaggatgaaggctgccttGggggtcatctttctctcata							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:174869692delG	uc003mcz.2	-	2	1356	c.411delC	c.(409-411)CCCfs	p.P137fs		NM_000794	NP_000785	P21728	DRD1_HUMAN	dopamine receptor D1	137	Cytoplasmic (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			ovary(2)|skin(1)	3	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	AGGCTGCCTTGGGGGTCATCT	0.537													-	174869692	G	-	174869692	7	5	15	1	0	1	0	1	0	0	0	0	4756	1335	47	0	933	0	DRD1	5	174869692	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	5838528	174869692	6045568	272	11713											
CDHR2	54825	broad.mit.edu	37	chr5	176017621	176017621	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctcatcagtgtcatcataGgattgggagtggctttgctg	13	7	4	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:176017621G>T	uc003mem.1	+	28	3538	c.3472G>T	c.(3472-3474)GGA>TGA	p.G1158*	CDHR2_uc003men.1_Nonsense_Mutation_p.G1158*	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	1158	Helical; (Potential).				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						TGTCATCATAGGATTGGGAGT	0.562													T	176017621	G	T	176017621	4	4	15	1	0	0	0	0	0	1	0	0	3119	1001	35	5	3578	5	CDHR2	5	176017621	Nonsense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1147929	176017621	4897639	273	11714											
PROP1	5626	broad.mit.edu	37	chr5	177419842	177419842	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtgacaaagcaaaggcGcctcctgtggagggctggga	17	8	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:177419842G>A	uc003mif.1	-	3	858	c.549C>T	c.(547-549)GGC>GGT	p.G183G		NM_006261	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	183					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCAAAGGCGCCTCCTGTGG	0.652													A	177419842	G	A	177419842	2	1	15	1	0	0	0	0	0	0	0	1	12557	1074	38	1		1	PROP1	5	177419842	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1402221	177419842	3495418	274	11715											
HNRNPAB	3182	broad.mit.edu	37	chr5	177633781	177633781	+	Frame_Shift_Del	DEL	A	A	-													atggccgtgtcattgaccctAaaaaggccatggctatgaag							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:177633780_177633780TA>T	uc003miu.3	+	3	683	c.426_426TA>T	c.(424-426)cctfs	p.P142fs	HNRNPAB_uc003miv.3_Frame_Shift_Del_p.P142fs|HNRNPAB_uc003mix.3_Frame_Shift_Del_p.P142fs	NM_031266	NP_112556	Q99729	ROAA_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A/B (HNRNPAB), transcript variant 1, mRNA.	141	RRM 1.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			large_intestine(4)|prostate(1)|urinary_tract(1)	6						TCATTGACCCTAAAAAGGCCA	0.537													-	177633781	A	-	177633781	7	5	15	1	0	1	0	1	0	0	0	0	7261	363	13	0	437	0	HNRNPAB	5	177633781	Frame_Shift_Del	DEL	A	TCGA-BR-4280-01A-01D-1126-08	213939	177633781	3281479	275	11716											
RUFY1	80230	broad.mit.edu	37	chr5	179036402	179036404	+	In_Frame_Del	DEL	TCT	TCT	-													ctgccggaactgtggccacaTcttctgcaacacctgctcca							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:179036402_179036404delTCT	uc003mka.1	+	18	2009_2011	c.2009_2011delTCT	c.(2008-2013)ATCTTC>ATC	p.F671del	RUFY1_uc003mkb.1_In_Frame_Del_p.F563del|RUFY1_uc003mkc.1_In_Frame_Del_p.F563del|RUFY1_uc003mkd.1_In_Frame_Del_p.F273del	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	RUN and FYVE domain-containing 1 isoform a	671	FYVE-type.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			ovary(4)|breast(1)	5	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTGGCCACATCTTCTGCAACAC	0.65										HNSCC(44;0.11)			-	179036404	TCT	-	179036402	7	5	15	1	0	1	0	1	0	0	0	0	13738	1435	50	0	2079	0	RUFY1	5	179036402	In_Frame_Del	DEL	TCT	TCGA-BR-4280-01A-01D-1126-08	1402621	179036402	1878858	276	11717											
FLT4	2324	broad.mit.edu	37	chr5	180046728	180046728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggatgccgaaagcggaggCttccaccaccttcccgaagg	13	13	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr5:180046728C>T	uc003mma.3	-	18	2663	c.2584G>A	c.(2584-2586)GCC>ACC	p.A862T	FLT4_uc003mlz.3_Missense_Mutation_p.A862T|FLT4_uc003mmb.1_Missense_Mutation_p.A395T	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	862	Cytoplasmic (Potential).|Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	AAAGCGGAGGCTTCCACCACC	0.657									Congenital_Hereditary_Lymphedema				T	180046728	C	T	180046728	3	4	15	1	0	0	0	0	1	0	0	0	5944	797	28	2	1567	2	FLT4	5	180046728	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1010326	180046728	868532	277	11718											
F13A1	2162	broad.mit.edu	37	chr6	6196106	6196106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgaaccgaggcggggccaCaccgatacatgcctgcattg	12	13	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:6196106C>T	uc003mwv.2	-	10	1352	c.1229G>A	c.(1228-1230)TGT>TAT	p.C410Y	F13A1_uc011dib.1_Missense_Mutation_p.C347Y	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	410					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGCGGGGCCACACCGATACAT	0.512													T	6196106	C	T	6196106	3	4	15	1	0	0	0	0	1	0	0	0	5340	478	17	4	993	4	F13A1	6	6196106	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08		6196106	164918961	278	11719											
PHACTR1	221692	broad.mit.edu	37	chr6	13283733	13283733	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactacgtggaggtggctgAcgctcaggactatgaccgca	14	10	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:13283733A>G	uc010jpc.2	+	13	1921	c.1589A>G	c.(1588-1590)GAC>GGC	p.D530G	PHACTR1_uc003nah.1_Missense_Mutation_p.D530G|TBC1D7_uc003naj.2_Intron|TBC1D7_uc011dis.1_Intron|uc003nak.1_Intron	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	530						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity				0	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GAGGTGGCTGACGCTCAGGAC	0.597													G	13283733	A	G	13283733	3	3	15	1	0	0	0	0	1	0	0	0	11809	275	10	3	1631	3	PHACTR1	6	13283733	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	7087627	13283733	157831334	279	11720											
DTNBP1	84062	broad.mit.edu	37	chr6	15638038	15638038	+	Splice_Site	DEL	A	A	-													gcccatgtatcctcatacctAaaaaaaagcaaaaaataatt					rs140124163		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:15638037_15638037TA>T	uc003nbm.3	-	4	351	c.162_splice	c.e4-1	p.R54_splice	DTNBP1_uc003nbl.3_Splice_Site|DTNBP1_uc010jph.3_Splice_Site_p.R41_splice|DTNBP1_uc003nbp.3_Splice_Site_p.R54_splice	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	54					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TCCTCATACCTAAAAAAAAGC	0.363									Hermansky-Pudlak syndrome				-	15638038	A	-	15638038	8	5	15	1	0	1	0	1	0	0	1	0	4790	377	13	0		0	DTNBP1	6	15638038	Splice_Site	DEL	A	TCGA-BR-4280-01A-01D-1126-08	2354305	15638038	155477029	280	11721											
CAP2	10486	broad.mit.edu	37	chr6	17507473	17507473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactttcagagagagaaaccGggggagtaacatgtttaatc	11	6	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:17507473G>A	uc003ncb.2	+	5	617	c.374G>A	c.(373-375)CGG>CAG	p.R125Q	CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Missense_Mutation_p.R99Q|CAP2_uc011djb.1_Missense_Mutation_p.R125Q|CAP2_uc011djc.1_Intron|CAP2_uc011djd.1_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	adenylyl cyclase-associated protein 2	125					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			ovary(1)	1	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GAGAGAAACCGGGGGAGTAAC	0.493													A	17507473	G	A	17507473	3	1	15	1	0	0	0	0	1	0	0	0	2620	1116	39	1	388	1	CAP2	6	17507473	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1869435	17507473	153607594	281	11722											
HLA-B	3106	broad.mit.edu	37	chr6	31324898	31324898	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagggccagggccgccgagAgcagcaggaggacggttcgg	19	11	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:31324898A>G	uc003nth.2	-	1	92	c.38T>C	c.(37-39)CTC>CCC	p.L13P	HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Missense_Mutation_p.L13P|HLA-B_uc003ntg.1_5'Flank|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_5'Flank|HLA-B_uc010jso.2_5'Flank	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	13					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0						GGCCGCCGAGAGCAGCAGGAG	0.711									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				G	31324898	A	G	31324898	3	3	15	1	0	0	0	0	1	0	0	0	7196	304	11	3	1078	3	HLA-B	6	31324898	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	13817425	31324898	139790169	282	11723											
AIF1	199	broad.mit.edu	37	chr6	31584639	31584639	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaaaaggaaaagccaacaGgccccccagccaagaaagct	10	12	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:31584639G>T	uc003nuy.2	+	6	480	c.406G>T	c.(406-408)GGC>TGC	p.G136C	AIF1_uc010jsy.2_3'UTR|AIF1_uc003nva.2_Missense_Mutation_p.G82C	NM_001623	NP_001614	P55008	AIF1_HUMAN	allograft inflammatory factor 1 isoform 3	136				KEKPTGPPAKKAISELP -> RKTNTPPSQESPI (in Ref. 2; AAA92457).	actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding			ovary(1)	1						AAAGCCAACAGGCCCCCCAGC	0.488													T	31584639	G	T	31584639	3	4	15	1	0	0	0	0	1	0	0	0	424	1000	35	5	626	5	AIF1	6	31584639	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	259741	31584639	139530428	283	11724											
VARS	7407	broad.mit.edu	37	chr6	31760167	31760167	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagctccaccctcgcctcAcctcccctggaggtggctgc	9	20	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:31760167A>G	uc003nxe.2	-	5	1209	c.786_splice	c.e5+1	p.E262_splice	VARS_uc011doi.1_Splice_Site	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase						translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	CCCTCGCCTCACCTCCCCTGG	0.532													G	31760167	A	G	31760167	5	3	15	1	0	0	0	0	0	0	1	0	17120	173	6	3	3110	3	VARS	6	31760167	Splice_Site	SNP	A	TCGA-BR-4280-01A-01D-1126-08	175528	31760167	139354900	284	11725											
HSPA1L	3305	broad.mit.edu	37	chr6	31779676	31779676	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatgatctccaccttgccgTgctggaacacccccacacag	8	17	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:31779676T>C	uc003nxh.2	-	2	257	c.74A>G	c.(73-75)CAC>CGC	p.H25R	HSPA1L_uc010jte.2_Missense_Mutation_p.H25R	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	25					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						CACCTTGCCGTGCTGGAACAC	0.607													C	31779676	T	C	31779676	3	2	15	1	0	0	0	0	1	0	0	0	7410	1696	59	3	1855	3	HSPA1L	6	31779676	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	19509	31779676	139335391	285	11726											
PRRT1	80863	broad.mit.edu	37	chr6	32117114	32117114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagatgaaggagaagttcCgggcctcgcgtgaagcgatc	17	8	0	4			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:32117114C>T	uc003nzt.2	-	4	922	c.806G>A	c.(805-807)CGG>CAG	p.R269Q	PRRT1_uc003nzs.2_Missense_Mutation_p.R310Q|PRRT1_uc003nzu.2_Silent_p.P161P	NM_030651	NP_085154	Q99946	PRRT1_HUMAN	NG5 protein	269					response to biotic stimulus	integral to membrane				breast(1)	1						GGAGAAGTTCCGGGCCTCGCG	0.647													T	32117114	C	T	32117114	3	4	15	1	0	0	0	0	1	0	0	0	12609	652	23	1	118	1	PRRT1	6	32117114	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	337438	32117114	138997953	286	11727											
USP49	25862	broad.mit.edu	37	chr6	41767603	41767603	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagccggagaacctgaggTagtctgtagatcattaactg	12	8	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:41767603T>C	uc003ori.2	-	6	1857	c.1635A>G	c.(1633-1635)CTA>CTG	p.L545L		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	545					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAACCTGAGGTAGTCTGTAGA	0.488													C	41767603	T	C	41767603	2	2	15	1	0	0	0	0	0	0	0	1	17077	1625	57	3		3	USP49	6	41767603	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	9650489	41767603	129347464	287	11728											
MRPL2	51069	broad.mit.edu	37	chr6	43022057	43022057	+	Frame_Shift_Del	DEL	G	G	-													agcttcacgtaactcttcatGgggggtagtggccgaatctt							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:43022057delG	uc003ots.1	-	7	996	c.873delC	c.(871-873)CCCfs	p.P291fs	CUL7_uc011dvb.1_5'Flank|CUL7_uc003otq.2_5'Flank|CUL7_uc010jyh.2_5'Flank|KLC4_uc003otr.1_Intron	NM_015950	NP_057034	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2 precursor	291					translation	mitochondrion|ribosome	structural constituent of ribosome				0		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		AACTCTTCATGGGGGGTAGTG	0.587													-	43022057	G	-	43022057	7	5	15	1	0	1	0	1	0	0	0	0	9785	1335	47	0	48	0	MRPL2	6	43022057	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	1254454	43022057	128093010	288	11729											
TTBK1	84630	broad.mit.edu	37	chr6	43252030	43252030	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggcgcggccccagcattGgacacagccatcaccagcag	11	16	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:43252030G>A	uc003ouq.1	+	14	3831	c.3552G>A	c.(3550-3552)TTG>TTA	p.L1184L		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1184						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCCCAGCATTGGACACAGCCA	0.682													A	43252030	G	A	43252030	2	1	15	1	0	0	0	0	0	0	0	1	16673	1339	47	4		4	TTBK1	6	43252030	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	229973	43252030	127863037	289	11730											
TMEM63B	55362	broad.mit.edu	37	chr6	44118039	44118039	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcctaccctcgctgggActgagcaggtgagttgagaa	13	11	0	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:44118039A>G	uc003owr.2	+	17	1663	c.1599A>G	c.(1597-1599)GGA>GGG	p.G533G	TMEM63B_uc003ows.2_Silent_p.G436G|TMEM63B_uc010jyz.2_RNA	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	533	Helical; (Potential).					integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CCTCGCTGGGACTGAGCAGGT	0.587													G	44118039	A	G	44118039	2	3	15	1	0	0	0	0	0	0	0	1	16188	262	10	3		3	TMEM63B	6	44118039	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	866009	44118039	126997028	290	11731											
MUT	4594	broad.mit.edu	37	chr6	49427150	49427151	+	Frame_Shift_Ins	INS	-	-	A													tcaggtaatgaggtgaaagtINSaaaaaaagctgattcttagc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:49427150_49427151insA	uc003ozg.3	-	2	284_285	c.29_30insT	c.(28-30)TTAfs	p.L10fs		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	10					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGGTGAAAGTAAAAAAAGCTG	0.416													A	49427151	-	A	49427150	7	5	15	1	0	1	1	0	0	0	0	0	9991	1635	57	0	2270	0	MUT	6	49427150	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	5309111	49427150	121687917	291	11732	24	2									
MUT	4594	broad.mit.edu	37	chr6	49427151	49427152	+	Frame_Shift_Ins	INS	-	-	A													caggtaatgaggtgaaagtaINSaaaaaagctgattcttagct							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:49427150_49427151T>TA	uc003ozg.4	-	1	294_295	c.29_30A>TA	c.(28-30)ttafs	p.L10fs		NM_000255	NP_000246	P22033	MUTA_HUMAN	Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.	10					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGGTGAAAGTAAAAAAAGCTG	0.416													A	49427152	-	A	49427151	7	5	15	1	0	1	1	0	0	0	0	0	9991	372	13	0	2271	0	MUT	6	49427151	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	1	49427151	121687916	292	11733	24	2									
ICK	22858	broad.mit.edu	37	chr6	52869977	52869977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcgtacttggaagcccaGtctgtccggccatgcactgg	13	12	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:52869977G>A	uc003pbh.2	-	15	2359	c.1869C>T	c.(1867-1869)GAC>GAT	p.D623D	ICK_uc003pbi.2_Silent_p.D623D	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	intestinal cell kinase	623					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5	Lung NSC(77;0.103)					TGGAAGCCCAGTCTGTCCGGC	0.577													A	52869977	G	A	52869977	2	1	15	1	0	0	0	0	0	0	0	1	7484	1020	36	4		4	ICK	6	52869977	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	3442826	52869977	118245090	293	11734											
BAI3	577	broad.mit.edu	37	chr6	70070837	70070837	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggatttctctaaatgatgaTgaagaagaaaagggaacaaa	10	3	1	5			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:70070837T>C	uc003pev.3	+	29	4120	c.3672T>C	c.(3670-3672)GAT>GAC	p.D1224D	BAI3_uc010kak.2_Silent_p.D1224D|BAI3_uc011dxx.1_Silent_p.D430D	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1224	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TAAATGATGATGAAGAAGAAA	0.413													C	70070837	T	C	70070837	2	2	15	1	0	0	0	0	0	0	0	1	1300	1461	51	3		3	BAI3	6	70070837	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	17200860	70070837	101044230	294	11735											
CD109	135228	broad.mit.edu	37	chr6	74472143	74472143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgaaaggagacgtaacGcttacatttttacctttatc	7	9	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:74472143G>A	uc003php.2	+	8	1220	c.795G>A	c.(793-795)ACG>ACA	p.T265T	CD109_uc010kaz.2_Silent_p.T265T|CD109_uc003phq.2_Silent_p.T265T|CD109_uc010kba.2_Silent_p.T188T	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	265						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						GAGACGTAACGCTTACATTTT	0.294													A	74472143	G	A	74472143	2	1	15	1	0	0	0	0	0	0	0	1	2963	1074	38	1		1	CD109	6	74472143	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	4401306	74472143	96642924	295	11736											
COL12A1	1303	broad.mit.edu	37	chr6	75855832	75855832	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcacctctttgggtcttgTtggctctgtgtccttaacag	9	10	4	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:75855832T>C	uc003phs.2	-	24	4712	c.4546A>G	c.(4546-4548)ACA>GCA	p.T1516A	COL12A1_uc003pht.2_Missense_Mutation_p.T352A	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1516	Fibronectin type-III 10.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TTGGGTCTTGTTGGCTCTGTG	0.433													C	75855832	T	C	75855832	3	2	15	1	0	0	0	0	1	0	0	0	3669	1725	60	3	4817	3	COL12A1	6	75855832	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	1383689	75855832	95259235	296	11737											
IBTK	25998	broad.mit.edu	37	chr6	82950021	82950021	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacactcctttctttccacaGgaggaaacaaggtggagggc	11	10	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:82950021G>T	uc003pjl.1	-	2	710	c.183C>A	c.(181-183)TCC>TCA	p.S61S	IBTK_uc011dyv.1_Silent_p.S61S|IBTK_uc011dyw.1_Silent_p.S61S|IBTK_uc010kbi.1_Translation_Start_Site|IBTK_uc003pjm.2_Silent_p.S61S	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	61	ANK 1.				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TCTTTCCACAGGAGGAAACAA	0.443													T	82950021	G	T	82950021	2	4	15	1	0	0	0	0	0	0	0	1	7476	987	35	5		5	IBTK	6	82950021	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	7094189	82950021	88165046	297	11738											
SNAP91	9892	broad.mit.edu	37	chr6	84302947	84302947	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcatctggcttaggcgcTgcagcaacttcaggagtgga	14	10	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:84302947T>G	uc011dze.1	-	18	2045	c.1728A>C	c.(1726-1728)GCA>GCC	p.A576A	SNAP91_uc011dzd.1_Silent_p.A79A|SNAP91_uc003pkb.2_Intron|SNAP91_uc003pkc.2_Silent_p.A574A|SNAP91_uc003pkd.2_Intron|SNAP91_uc003pka.2_Silent_p.A574A	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	576	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCTTAGGCGCTGCAGCAACTT	0.418													G	84302947	T	G	84302947	2	3	15	1	0	0	0	0	0	0	0	1	14833	1567	55	5		5	SNAP91	6	84302947	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	1352926	84302947	86812120	298	11739											
MDN1	23195	broad.mit.edu	37	chr6	90417112	90417115	+	Frame_Shift_Del	DEL	CTCT	CTCT	-													caaaggacattctcaaaacaCtctctcttagctttttgcta							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:90417112_90417115delCTCT	uc003pnn.1	-	52	8095_8098	c.7979_7982delAGAG	c.(7978-7983)GAGAGTfs	p.E2660fs		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2660_2661					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCTCAAAACACTCTCTCTTAGCTT	0.348													-	90417115	CTCT	-	90417112	7	5	15	1	0	1	0	1	0	0	0	0	9415	565	20	0	9012	0	MDN1	6	90417112	Frame_Shift_Del	DEL	CTCT	TCGA-BR-4280-01A-01D-1126-08	6114165	90417112	80697955	299	11740											
CASP8AP2	9994	broad.mit.edu	37	chr6	90577062	90577062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctagagactcttaagtgCgagtctataccagcttgtac	9	10	2	1	rs147437828	by1000genomes	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:90577062C>T	uc003pnr.2	+	8	4249	c.4053C>T	c.(4051-4053)TGC>TGT	p.C1351C	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.C1351C|CASP8AP2_uc011dzz.1_Silent_p.C1351C	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1351					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CTCTTAAGTGCGAGTCTATAC	0.408													T	90577062	C	T	90577062	2	4	15	1	0	0	0	0	0	0	0	1	2678	776	27	1		1	CASP8AP2	6	90577062	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	159950	90577062	80538005	300	11741											
SFRS18	25957	broad.mit.edu	37	chr6	99857075	99857075	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggctcctgcttcacaGgaagtgcaataggtgaacgc	14	9	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:99857075G>T	uc003ppo.3	-	6	875	c.647C>A	c.(646-648)CCT>CAT	p.P216H	SFRS18_uc003ppp.3_Missense_Mutation_p.P216H|SFRS18_uc011eag.1_Missense_Mutation_p.P216H|SFRS18_uc003ppr.2_Missense_Mutation_p.P216H	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	216	Pro-rich.					nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		CTGCTTCACAGGAAGTGCAAT	0.443													T	99857075	G	T	99857075	3	4	15	1	0	0	0	0	1	0	0	0	14174	1000	35	5	1798	5	SFRS18	6	99857075	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	9280013	99857075	71257992	301	11742											
SMPD2	6610	broad.mit.edu	37	chr6	109764540	109764540	+	Frame_Shift_Del	DEL	C	C	-													ctttgaccctcacaggggcaCccccctctctgatcatgaag							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:109764539_109764539AC>A	uc003pti.3	+	8	1193	c.799_799AC>A	c.(799-801)accfs	p.T267fs	PPIL6_uc010kdp.3_5'Flank|PPIL6_uc003ptg.4_5'Flank|PPIL6_uc021zdq.1_5'Flank|PPIL6_uc003pth.1_5'Flank	NM_003080	NP_003071	O60906	NSMA_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) (SMPD2), mRNA.	267					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		TCACAGGGGCACCCCCCTCTC	0.542													-	109764540	C	-	109764540	7	5	15	1	0	1	0	1	0	0	0	0	14805	507	18	0	834	0	SMPD2	6	109764540	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	9907465	109764540	61350527	302	11743											
MAN1A1	4121	broad.mit.edu	37	chr6	119670101	119670101	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgctgaataccagcagcaGcacgaacttctccgtcaggc	11	14	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:119670101G>A	uc003pym.1	-	2	572	c.130C>T	c.(130-132)CTG>TTG	p.L44L	MAN1A1_uc010kei.1_Silent_p.L44L	NM_005907	NP_005898	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	44	Helical; Signal-anchor for type II membrane protein; (Potential).			KGSGPAALRLTEKFVLLLV -> MNSNFITFDLKMSLLPSN L (in Ref. 2; CAA52831).	post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ACCAGCAGCAGCACGAACTTC	0.507													A	119670101	G	A	119670101	2	1	15	1	0	0	0	0	0	0	0	1	9210	962	34	2		2	MAN1A1	6	119670101	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	9905561	119670101	51444966	303	11744											
TAAR1	134864	broad.mit.edu	37	chr6	132966361	132966361	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaagggcaccagcatattAggaaaactcccatcacaatc	7	11	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:132966361A>G	uc003qdm.1	-	1	782	c.782T>C	c.(781-783)CTA>CCA	p.L261P		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	261	Helical; Name=6; (Potential).					plasma membrane					0	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	CCAGCATATTAGGAAAACTCC	0.378													G	132966361	A	G	132966361	3	3	15	1	0	0	0	0	1	0	0	0	15486	420	15	3	241	3	TAAR1	6	132966361	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	13296260	132966361	38148706	304	11745											
ECT2L	345930	broad.mit.edu	37	chr6	139135710	139135710	+	Frame_Shift_Del	DEL	T	T	-													tcaagaattcttattcgcaaTttttttaagatgcactaaat							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:139135710delT	uc003qif.1	+	2	252	c.149delT	c.(148-150)ATTfs	p.I50fs	ECT2L_uc011edq.1_5'UTR	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2	50					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0						TTATTCGCAATTTTTTTAAGA	0.338													-	139135710	T	-	139135710	7	5	15	1	0	1	0	1	0	0	0	0	4902	1493	52	0	155	0	ECT2L	6	139135710	Frame_Shift_Del	DEL	T	TCGA-BR-4280-01A-01D-1126-08	6169349	139135710	31979357	305	11746											
TXLNB	167838	broad.mit.edu	37	chr6	139563701	139563701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggtgtcagccacgttgcGcggctggggcccagctgagg	17	11	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:139563701G>A	uc011eds.1	-	10	2182	c.2017C>T	c.(2017-2019)CGC>TGC	p.R673C		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	673						cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GCCACGTTGCGCGGCTGGGGC	0.617													A	139563701	G	A	139563701	3	1	15	1	0	0	0	0	1	0	0	0	16785	1087	38	1	41	1	TXLNB	6	139563701	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	427991	139563701	31551366	306	11747											
FBXO30	84085	broad.mit.edu	37	chr6	146126435	146126435	+	Frame_Shift_Del	DEL	T	T	-													ttcacgtcccctaagtctacTtttttccaacacaattcacc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:146126435delT	uc003qla.2	-	2	1306	c.1107delA	c.(1105-1107)AAAfs	p.K369fs	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	369							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CTAAGTCTACTTTTTTCCAAC	0.393													-	146126435	T	-	146126435	7	5	15	1	0	1	0	1	0	0	0	0	5740	1606	56	0	1138	0	FBXO30	6	146126435	Frame_Shift_Del	DEL	T	TCGA-BR-4280-01A-01D-1126-08	6562734	146126435	24988632	307	11748											
SHPRH	257218	broad.mit.edu	37	chr6	146240594	146240594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcatcaacagcagacacacGattcctcagagccatccaat	5	14	3	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:146240594G>A	uc003qlf.2	-	22	4441	c.4042C>T	c.(4042-4044)CGT>TGT	p.R1348C	SHPRH_uc003qld.2_Missense_Mutation_p.R1352C|SHPRH_uc003qle.2_Missense_Mutation_p.R1352C|SHPRH_uc003qlg.1_Missense_Mutation_p.R904C|SHPRH_uc003qlh.2_Missense_Mutation_p.R273C|SHPRH_uc003qli.1_Missense_Mutation_p.R273C	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	1348					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GCAGACACACGATTCCTCAGA	0.418													A	146240594	G	A	146240594	3	1	15	1	0	0	0	0	1	0	0	0	14291	1058	37	1	1062	1	SHPRH	6	146240594	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	114159	146240594	24874473	308	11749											
TAB2	23118	broad.mit.edu	37	chr6	149700256	149700256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagatgaacaggtcatgcGgaatcagcccacactcttca	10	11	4	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:149700256G>A	uc003qmj.2	+	3	1383	c.1205G>A	c.(1204-1206)CGG>CAG	p.R402Q	TAB2_uc011eec.1_Missense_Mutation_p.R370Q|TAB2_uc010kia.1_Missense_Mutation_p.R402Q|TAB2_uc010kib.1_Missense_Mutation_p.R402Q|TAB2_uc003qmk.3_RNA	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	402					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0						CAGGTCATGCGGAATCAGCCC	0.512													A	149700256	G	A	149700256	3	1	15	1	0	0	0	0	1	0	0	0	15493	1116	39	1	1211	1	TAB2	6	149700256	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	3459662	149700256	21414811	309	11750											
LATS1	9113	broad.mit.edu	37	chr6	149983013	149983013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccattgtcatcaaaaaacCttcggaaggtaaattcatag	7	8	3	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:149983013C>T	uc003qmu.1	-	8	3793	c.3245G>A	c.(3244-3246)AGG>AAG	p.R1082K	LATS1_uc010kif.1_Missense_Mutation_p.R977K	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	1082	AGC-kinase C-terminal.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ATCAAAAAACCTTCGGAAGGT	0.363													T	149983013	C	T	149983013	3	4	15	1	0	0	0	0	1	0	0	0	8646	681	24	4	151	4	LATS1	6	149983013	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	282757	149983013	21132054	310	11751											
ARID1B	57492	broad.mit.edu	37	chr6	157405954	157405955	+	Frame_Shift_Ins	INS	-	-	G													ctcatctctccagcatcccgINSgggggcccatctccctctcc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:157405953_157405954C>CG	uc003qqp.3	+	4	2156_2157	c.2156_2157C>CG	c.(2155-2157)ccgfs	p.P719fs	ARID1B_uc003qqo.3_Frame_Shift_Ins_p.P732fs|ARID1B_uc003qqn.3_Frame_Shift_Ins_p.P719fs|ARID1B_uc003qqq.1_Frame_Shift_Ins_p.P103fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	719	Ser-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCAGCATCCCGGGGGGCCCAT	0.599													G	157405955	-	G	157405954	7	5	15	1	0	1	1	0	0	0	0	0	914	1103	39	0	2218	0	ARID1B	6	157405954	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	7422941	157405954	13709113	311	11752											
TULP4	56995	broad.mit.edu	37	chr6	158923753	158923753	+	Frame_Shift_Del	DEL	G	G	-													ccaagtccaagggcgggcccGggggggtggtgacacagctc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:158923753delG	uc003qrf.2	+	13	4415	c.3058delG	c.(3058-3060)GGGfs	p.G1020fs	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1020					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGGCGGGCCCGGGGGGGTGGT	0.721													-	158923753	G	-	158923753	7	5	15	1	0	1	0	1	0	0	0	0	16773	1116	39	0	3108	0	TULP4	6	158923753	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	1517799	158923753	12191314	312	11753											
FNDC1	84624	broad.mit.edu	37	chr6	159660894	159660895	+	Frame_Shift_Ins	INS	-	-	C													cccacacccaccactcccatINSccccacctgtccccctggga							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr6:159660894_159660895insC	uc010kjv.2	+	14	4726_4727	c.4526_4527insC	c.(4525-4527)ATCfs	p.I1509fs	FNDC1_uc010kjw.1_Frame_Shift_Ins_p.I1394fs	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1509	Thr-rich.					extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		accactcccatccccaccTGTC	0.252													C	159660895	-	C	159660894	7	5	15	1	0	1	1	0	0	0	0	0	5968	1435	50	0	4580	0	FNDC1	6	159660894	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	737141	159660894	11454173	313	11754											
FOXK1	221937	broad.mit.edu	37	chr7	4794168	4794168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagaacgtgacctcggaCctgcagctggcagcagagtt	14	11	0	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:4794168C>T	uc003snc.1	+	3	835	c.825C>T	c.(823-825)GAC>GAT	p.D275D	FOXK1_uc003sna.1_Silent_p.D112D|FOXK1_uc003snb.1_Silent_p.D275D	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	forkhead box K1	275					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			upper_aerodigestive_tract(1)|skin(1)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TGACCTCGGACCTGCAGCTGG	0.642													T	4794168	C	T	4794168	2	4	15	1	0	0	0	0	0	0	0	1	6014	506	18	4		4	FOXK1	7	4794168	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08		4794168	154344495	314	11755											
SNX13	23161	broad.mit.edu	37	chr7	17873707	17873707	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcggatcctctgaaactaGgatcttttaacatgtcaagc	7	10	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:17873707G>T	uc003stw.1	-	15	1778	c.1565C>A	c.(1564-1566)CCT>CAT	p.P522H	SNX13_uc003stv.2_Missense_Mutation_p.P522H|SNX13_uc010kuc.2_Missense_Mutation_p.P319H			Q9Y5W8	SNX13_HUMAN	SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;	522					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			central_nervous_system(2)|kidney(1)	3	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TCTGAAACTAGGATCTTTTAA	0.373													T	17873707	G	T	17873707	3	4	15	1	0	0	0	0	1	0	0	0	14884	1000	35	5	1356	5	SNX13	7	17873707	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	13079539	17873707	141264956	315	11756											
RAPGEF5	9771	broad.mit.edu	37	chr7	22184666	22184666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacactagaaacttactgagCcgcaattttgatgaattttt	6	8	0	4			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:22184666C>T	uc003svg.2	-	20	2036	c.1723G>A	c.(1723-1725)GCT>ACT	p.A575T	RAPGEF5_uc011jyl.1_Missense_Mutation_p.A256T	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	425	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			ovary(1)	1						ACTTACTGAGCCGCAATTTTG	0.458													T	22184666	C	T	22184666	3	4	15	1	0	0	0	0	1	0	0	0	13047	739	26	2	497	2	RAPGEF5	7	22184666	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	4310959	22184666	136953997	316	11757											
ZNRF2	223082	broad.mit.edu	37	chr7	30395357	30395357	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagaggatgtactgagTaaagatgctggggaatgtgc	14	5	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:30395357T>C	uc003tat.2	+	3	1630	c.579T>C	c.(577-579)AGT>AGC	p.S193S		NM_147128	NP_667339	Q8NHG8	ZNRF2_HUMAN	zinc finger/RING finger 2	193						cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding				0						ATGTACTGAGTAAAGATGCTG	0.353													C	30395357	T	C	30395357	2	2	15	1	0	0	0	0	0	0	0	1	18209	1635	57	3		3	ZNRF2	7	30395357	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	8210691	30395357	128743306	317	11758											
VPS41	27072	broad.mit.edu	37	chr7	38810820	38810820	+	Frame_Shift_Del	DEL	T	T	-													gaatcttatgtcttttaataTttttttggctaatttcagct							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:38810819_38810819AT>A	uc003tgy.3	-	13	1190	c.1164_1164AT>T	c.(1162-1164)aatfs	p.N388fs	VPS41_uc003tgz.3_Frame_Shift_Del_p.N363fs|VPS41_uc010kxn.3_Frame_Shift_Del_p.N299fs	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	388					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding	p.N388Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GTCTTTTAATATTTTTTTGGC	0.279													-	38810820	T	-	38810820	7	5	15	1	0	1	0	1	0	0	0	0	17207	1493	52	0	1465	0	VPS41	7	38810820	Frame_Shift_Del	DEL	T	TCGA-BR-4280-01A-01D-1126-08	8415463	38810820	120327843	318	11759											
NPC1L1	29881	broad.mit.edu	37	chr7	44555476	44555476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgatcaggaggttgaggCggaagaagaagatctgaatg	17	3	2	6			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:44555476C>T	uc003tlb.2	-	19	3859	c.3803G>A	c.(3802-3804)CGC>CAC	p.R1268H	NPC1L1_uc003tlc.2_Missense_Mutation_p.R1241H|NPC1L1_uc011kbw.1_Missense_Mutation_p.R1195H|NPC1L1_uc003tla.2_Intron	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	1268	Cytoplasmic (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	GAGGTTGAGGCGGAAGAAGAA	0.602													T	44555476	C	T	44555476	3	4	15	1	0	0	0	0	1	0	0	0	10571	768	27	1	284	1	NPC1L1	7	44555476	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	5744656	44555476	114583187	319	11760											
ZMIZ2	83637	broad.mit.edu	37	chr7	44806214	44806214	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgccacaggcgtgatgggGccccccagcatgtctggagc	14	15	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:44806214G>C	uc003tlr.2	+	18	2730	c.2607G>C	c.(2605-2607)GGG>GGC	p.G869G	ZMIZ2_uc003tlq.2_Silent_p.G811G|ZMIZ2_uc003tls.2_Silent_p.G843G|ZMIZ2_uc003tlt.2_Silent_p.G492G|ZMIZ2_uc010kyj.2_Silent_p.G391G|ZMIZ2_uc003tlu.2_Silent_p.G150G|ZMIZ2_uc010kyk.1_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	869	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						GCGTGATGGGGCCCCCCAGCA	0.667													C	44806214	G	C	44806214	2	2	15	1	0	0	0	0	0	0	0	1	17694	1190	42	5		5	ZMIZ2	7	44806214	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	250738	44806214	114332449	320	11761											
TNS3	64759	broad.mit.edu	37	chr7	47467961	47467961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatatgaccactcctatgCgtcctttcccgccctgcagg	8	15	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:47467961C>T	uc003tnv.2	-	9	705	c.338G>A	c.(337-339)CGC>CAC	p.R113H	TNS3_uc003tnw.2_Missense_Mutation_p.R113H|TNS3_uc010kyo.1_Missense_Mutation_p.R113H	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	113	Phosphatase tensin-type.					focal adhesion	protein binding			ovary(4)	4						CACTCCTATGCGTCCTTTCCC	0.478													T	47467961	C	T	47467961	3	4	15	1	0	0	0	0	1	0	0	0	16341	768	27	1	4091	1	TNS3	7	47467961	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2661747	47467961	111670702	321	11762											
PKD1L1	168507	broad.mit.edu	37	chr7	47851451	47851451	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtactgcagggctgagtcGctgcggaagatgctgaatga	16	7	0	4			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:47851451G>A	uc003tny.1	-	50	7545	c.7545C>T	c.(7543-7545)AGC>AGT	p.S2515S	C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Silent_p.S242S	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2515	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GGGCTGAGTCGCTGCGGAAGA	0.612													A	47851451	G	A	47851451	2	1	15	1	0	0	0	0	0	0	0	1	11964	1078	38	1		1	PKD1L1	7	47851451	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	383490	47851451	111287212	322	11763											
FGL2	10875	broad.mit.edu	37	chr7	76828797	76828797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcctgggtctccgttgTcatcagcctgcagcttgcag	11	13	4	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:76828797T>C	uc003ugb.2	-	1	354	c.314A>G	c.(313-315)GAC>GGC	p.D105G	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	fibrinogen-like 2 precursor	105	Potential.				signal transduction	fibrinogen complex	receptor binding			skin(2)	2						GTCTCCGTTGTCATCAGCCTG	0.473													C	76828797	T	C	76828797	3	2	15	1	0	0	0	0	1	0	0	0	5873	1667	58	3	1013	3	FGL2	7	76828797	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	28977346	76828797	82309866	323	11764											
PCLO	27445	broad.mit.edu	37	chr7	82544043	82544043	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttggaagtcatccatgatgAatgctatgtcacggtcatag	11	7	3	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:82544043A>C	uc003uhx.2	-	7	13548	c.13259T>G	c.(13258-13260)TTC>TGC	p.F4420C	PCLO_uc003uhv.2_Missense_Mutation_p.F4420C|PCLO_uc010lec.2_Missense_Mutation_p.F1385C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4351					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ATCCATGATGAATGCTATGTC	0.453													C	82544043	A	C	82544043	3	2	15	1	0	0	0	0	1	0	0	0	11583	246	9	5	2262	5	PCLO	7	82544043	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	5715246	82544043	76594620	324	11765											
PCLO	27445	broad.mit.edu	37	chr7	82580251	82580251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccagttccaggagctcaCgctccaagtctagctgctgc	9	15	3	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:82580251C>T	uc003uhx.2	-	6	9942	c.9653G>A	c.(9652-9654)CGT>CAT	p.R3218H	PCLO_uc003uhv.2_Missense_Mutation_p.R3218H|PCLO_uc010lec.2_Missense_Mutation_p.R183H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3149	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CAGGAGCTCACGCTCCAAGTC	0.458													T	82580251	C	T	82580251	3	4	15	1	0	0	0	0	1	0	0	0	11583	536	19	1	5872	1	PCLO	7	82580251	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	36208	82580251	76558412	325	11766											
KIAA1324L	222223	broad.mit.edu	37	chr7	86542523	86542523	+	Splice_Site	DEL	A	A	-													attgatgaaccgtctattctAaaaaaaagagcataaagtaa							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:86542522_86542522TA>T	uc011kha.2	-	14	1917	c.1732_splice	c.e14-1	p.N578_splice	KIAA1324L_uc003uie.3_Splice_Site_p.N411_splice|KIAA1324L_uc011kgz.2_Splice_Site_p.N464_splice|KIAA1324L_uc003uif.2_Splice_Site_p.N330_splice	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	578						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCGTCTATTCTAAAAAAAAGA	0.413													-	86542523	A	-	86542523	8	5	15	1	0	1	0	1	0	0	1	0	8224	377	13	0		0	KIAA1324L	7	86542523	Splice_Site	DEL	A	TCGA-BR-4280-01A-01D-1126-08	3962272	86542523	72596140	326	11767											
ABCB4	5244	broad.mit.edu	37	chr7	87032472	87032472	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcactttcagtatccagAgctgatgtagcttcatccaa	6	10	3	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:87032472A>C	uc003uiv.1	-	27	3709	c.3633T>G	c.(3631-3633)GCT>GCG	p.A1211A	ABCB4_uc003uiw.1_Silent_p.A1204A|ABCB4_uc003uix.1_Silent_p.A1157A	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	1211	ABC transporter 2.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CAGTATCCAGAGCTGATGTAG	0.433													C	87032472	A	C	87032472	2	2	15	1	0	0	0	0	0	0	0	1	43	291	11	5		5	ABCB4	7	87032472	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	489949	87032472	72106191	327	11768											
STEAP2	261729	broad.mit.edu	37	chr7	89856641	89856641	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgcttatcaactttaTtacggcaccaagtataggag	9	9	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:89856641T>C	uc003ujz.2	+	3	1242	c.849T>C	c.(847-849)TAT>TAC	p.Y283Y	STEAP2_uc003ujy.2_Silent_p.Y325Y|STEAP2_uc010len.2_Silent_p.Y283Y|STEAP2_uc003uka.2_Silent_p.Y283Y|STEAP2_uc003ukb.2_Silent_p.Y283Y|STEAP2_uc003ukc.2_Silent_p.Y283Y|STEAP2_uc003ukd.2_Silent_p.Y283Y	NM_152999	NP_694544	Q8NFT2	STEA2_HUMAN	six transmembrane epithelial antigen of the	283	Ferric oxidoreductase.				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			ovary(2)	2	all_hematologic(106;0.112)					ATCAACTTTATTACGGCACCA	0.408													C	89856641	T	C	89856641	2	2	15	1	0	0	0	0	0	0	0	1	15277	1500	52	3		3	STEAP2	7	89856641	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	2824169	89856641	69282022	328	11769											
AKAP9	10142	broad.mit.edu	37	chr7	91712572	91712572	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagagaaattgtccatttTagaaaaagaagatgagactg	9	3	0	5			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:91712572T>C	uc003ulg.2	+	33	8474	c.8249T>C	c.(8248-8250)TTA>TCA	p.L2750S	AKAP9_uc003ulf.2_Missense_Mutation_p.L2742S|AKAP9_uc003uli.2_Missense_Mutation_p.L2373S|AKAP9_uc003ulj.2_Missense_Mutation_p.L520S|AKAP9_uc003ulk.2_Missense_Mutation_p.L25S	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2762	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTGTCCATTTTAGAAAAAGAA	0.383			T	BRAF	papillary thyroid								C	91712572	T	C	91712572	3	2	15	1	0	0	0	0	1	0	0	0	459	1764	61	3	8379	3	AKAP9	7	91712572	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	1855931	91712572	67426091	329	11770											
COL1A2	1278	broad.mit.edu	37	chr7	94056940	94056940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcactttcacctttgcaggGcccccctggtccccctggcc	8	20	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:94056940G>A	uc003ung.1	+	49	3740	c.3269G>A	c.(3268-3270)GGC>GAC	p.G1090D	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1090					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCTTTGCAGGGCCCCCCTGGT	0.532										HNSCC(75;0.22)			A	94056940	G	A	94056940	3	1	15	1	0	0	0	0	1	0	0	0	3678	1217	42	2	3463	2	COL1A2	7	94056940	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	2344368	94056940	65081723	330	11771											
DLX6	1750	broad.mit.edu	37	chr7	96639211	96639211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagggctcggcggccctgtCgccacgctcgccagcgctgc	14	19	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:96639211C>T	uc003uom.2	+	4	650	c.650C>T	c.(649-651)TCG>TTG	p.S217L	DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	distal-less homeobox 6	127					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GCGGCCCTGTCGCCACGCTCG	0.577													T	96639211	C	T	96639211	3	4	15	1	0	0	0	0	1	0	0	0	4575	893	31	1	744	1	DLX6	7	96639211	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2582271	96639211	62499452	331	11772											
TRRAP	8295	broad.mit.edu	37	chr7	98567799	98567799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccaaggagccatgctccCgtccatcaccaacgtcatca	7	17	3	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:98567799C>T	uc003upp.2	+	51	7765	c.7556C>T	c.(7555-7557)CCG>CTG	p.P2519L	TRRAP_uc011kis.1_Missense_Mutation_p.P2501L|TRRAP_uc003upr.2_Missense_Mutation_p.P2218L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2519					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCCATGCTCCCGTCCATCACC	0.627													T	98567799	C	T	98567799	3	4	15	1	0	0	0	0	1	0	0	0	16598	652	23	1	7696	1	TRRAP	7	98567799	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1928588	98567799	60570864	332	11773											
LRRN3	54674	broad.mit.edu	37	chr7	110762919	110762919	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataaaaaagtggattgtccaCggttatgtacgtgtgaaatc	10	5	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:110762919C>A	uc003vft.3	+	4	1137	c.91C>A	c.(91-93)CGG>AGG	p.R31R	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.R31R|LRRN3_uc003vfs.3_Silent_p.R31R	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	31	Extracellular (Potential).|LRRNT.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GGATTGTCCACGGTTATGTAC	0.408													A	110762919	C	A	110762919	2	1	15	1	0	0	0	0	0	0	0	1	9036	527	19	5		5	LRRN3	7	110762919	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	12195120	110762919	48375744	333	11774											
FOXP2	93986	broad.mit.edu	37	chr7	114269985	114269985	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcaacaacaacaacaAcagcagcaacaacagcagca	6	14	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:114269985A>G	uc003vhb.2	+	5	896	c.522A>G	c.(520-522)CAA>CAG	p.Q174Q	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Silent_p.Q199Q|FOXP2_uc003vha.2_Silent_p.Q82Q|FOXP2_uc011kmu.1_Silent_p.Q191Q|FOXP2_uc011kmv.1_Silent_p.Q174Q|FOXP2_uc010ljz.1_Silent_p.Q82Q|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Silent_p.Q174Q|FOXP2_uc003vgx.2_Silent_p.Q174Q|FOXP2_uc003vhd.2_Silent_p.Q174Q|FOXP2_uc003vhc.2_Silent_p.Q199Q	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	174	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q174*(1)		ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						aacaacaacaacagcagcaac	0.164													G	114269985	A	G	114269985	2	3	15	1	0	0	0	0	0	0	0	1	6027	40	2	3		3	FOXP2	7	114269985	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	3507066	114269985	44868678	334	11775											
RNF148	378925	broad.mit.edu	37	chr7	122341966	122341967	+	Frame_Shift_Ins	INS	-	-	A													gtcaatgcatgccttatggaINSaaaaatgtttgcaagttaaa							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:122341965_122341966G>GA	uc003vkk.1	-	0	1056_1057	c.839_840C>TC	c.(838-840)ttcfs	p.F280fs	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron|RNF133_uc003vkj.1_5'Flank	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	Homo sapiens ring finger protein 148 (RNF148), mRNA.	280						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						ATGCCTTATGGAAAAAATGTTT	0.401													A	122341967	-	A	122341966	7	5	15	1	0	1	1	0	0	0	0	0	13449	246	9	0	82	0	RNF148	7	122341966	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	8071981	122341966	36796697	335	11776											
SPAM1	6677	broad.mit.edu	37	chr7	123594028	123594028	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagacattacattttataTgccagtagacaatttgggaa	8	5	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:123594028T>C	uc003vld.2	+	4	806	c.404T>C	c.(403-405)ATG>ACG	p.M135T	SPAM1_uc003vle.2_Missense_Mutation_p.M135T|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.M135T|SPAM1_uc010lku.2_Missense_Mutation_p.M135T	NM_153189	NP_694859	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 2	135					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)	ACATTTTATATGCCAGTAGAC	0.398													C	123594028	T	C	123594028	3	2	15	1	0	0	0	0	1	0	0	0	14986	1464	51	3	406	3	SPAM1	7	123594028	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	1252062	123594028	35544635	336	11777											
OPN1SW	611	broad.mit.edu	37	chr7	128415565	128415565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtatccgttacagctggCgacgaagacagggaagacag	14	8	0	2	rs144400933		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:128415565C>T	uc003vnt.3	-	1	280	c.280G>A	c.(280-282)GCC>ACC	p.A94T		NM_001708	NP_001699	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	94	Helical; Name=2; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0						TTACAGCTGGCGACGAAGACA	0.552													T	128415565	C	T	128415565	3	4	15	1	0	0	0	0	1	0	0	0	10880	768	27	1	786	1	OPN1SW	7	128415565	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	4821537	128415565	30723098	337	11778											
FLNC	2318	broad.mit.edu	37	chr7	128489424	128489424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccagattgggcaggagaCggtgatcacggtggatgcca	15	8	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:128489424C>T	uc003vnz.3	+	30	5200	c.4991C>T	c.(4990-4992)ACG>ATG	p.T1664M	FLNC_uc003voa.3_Missense_Mutation_p.T1664M	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1664	Filamin 15.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GGGCAGGAGACGGTGATCACG	0.642													T	128489424	C	T	128489424	3	4	15	1	0	0	0	0	1	0	0	0	5935	536	19	1	5109	1	FLNC	7	128489424	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	73859	128489424	30649239	338	11779											
MEST	4232	broad.mit.edu	37	chr7	130144785	130144785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctcttccactaggaaaaCgctgccgcggtccacagtgt	10	13	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:130144785C>T	uc003vqg.2	+	12	1113	c.896C>T	c.(895-897)ACG>ATG	p.T299M	MEST_uc003vqc.2_Missense_Mutation_p.T290M|MEST_uc003vqd.2_Missense_Mutation_p.T256M|MEST_uc003vqf.2_Missense_Mutation_p.T290M|MEST_uc011kph.1_Missense_Mutation_p.T285M|MEST_uc010lmg.2_Missense_Mutation_p.R278C	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	mesoderm specific transcript isoform a	299					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			ovary(2)	2	Melanoma(18;0.0435)					ACTAGGAAAACGCTGCCGCGG	0.537													T	130144785	C	T	130144785	3	4	15	1	0	0	0	0	1	0	0	0	9484	536	19	1	942	1	MEST	7	130144785	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1655361	130144785	28993878	339	11780											
UBN2	254048	broad.mit.edu	37	chr7	138968642	138968642	+	Frame_Shift_Del	DEL	C	C	-													aatggttctcaagggtcccaCcccctggtttctaggacagt							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:138968641_138968641AC>A	uc011kqr.2	+	14	2990	c.2990_2990AC>A	c.(2989-2991)cacfs	p.H997fs		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	997	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CAAGGGTCCCACCCCCTGGTT	0.498													-	138968642	C	-	138968642	7	5	15	1	0	1	0	1	0	0	0	0	16890	506	18	0	3049	0	UBN2	7	138968642	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	8823857	138968642	20170021	340	11781											
TAS2R38	5726	broad.mit.edu	37	chr7	141673000	141673001	+	Frame_Shift_Ins	INS	-	-	A													actgtgaagtgaggtctgctINSaaaaaagcaccaaacacaga							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:141673000_141673001insA	uc003vwx.1	-	1	573_574	c.489_490insT	c.(487-492)TTTAGCfs	p.F163fs		NM_176817	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	163_164	Extracellular (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|skin(1)	2	Melanoma(164;0.0171)					TGAGGTCTGCTAAAAAAGCACC	0.426													A	141673001	-	A	141673000	7	5	15	1	0	1	1	0	0	0	0	0	15572	1522	53	0	515	0	TAS2R38	7	141673000	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	2704358	141673000	17465663	341	11782	25	2									
TAS2R38	5726	broad.mit.edu	37	chr7	141673001	141673002	+	Frame_Shift_Ins	INS	-	-	A													ctgtgaagtgaggtctgctaINSaaaaagcaccaaacacagag							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:141673000_141673001T>TA	uc003vwx.1	-	0	573_574	c.489_490A>TA	c.(487-492)tttagcfs	p.F163fs		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	163					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TGAGGTCTGCTAAAAAAGCACC	0.426													A	141673002	-	A	141673001	7	5	15	1	0	1	1	0	0	0	0	0	15572	359	13	0	516	0	TAS2R38	7	141673001	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	1	141673001	17465662	342	11783	25	2									
TAS2R40	259286	broad.mit.edu	37	chr7	142919775	142919775	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatttttctataacatggggAtcttcgttcctctgatcatg	7	8	4	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:142919775A>G	uc011ksx.1	+	1	604	c.604A>G	c.(604-606)ATC>GTC	p.I202V		NM_176882	NP_795363	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	202	Helical; Name=5; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(1)	1	Melanoma(164;0.059)					TAACATGGGGATCTTCGTTCC	0.493													G	142919775	A	G	142919775	3	3	15	1	0	0	0	0	1	0	0	0	15575	333	12	3	606	3	TAS2R40	7	142919775	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1246774	142919775	16218888	343	11784											
TAS2R60	338398	broad.mit.edu	37	chr7	143141266	143141266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgagagcccagtgtgcagGcacacataaaggctctgctg	12	12	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:143141266G>A	uc011ktg.1	+	1	721	c.721G>A	c.(721-723)GCA>ACA	p.A241T	uc003wda.2_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	241	Helical; Name=6; (Potential).				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			skin(6)	6	Melanoma(164;0.172)					CAGTGTGCAGGCACACATAAA	0.473													A	143141266	G	A	143141266	3	1	15	1	0	0	0	0	1	0	0	0	15582	1203	42	2	723	2	TAS2R60	7	143141266	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	221491	143141266	15997397	344	11785											
CNTNAP2	26047	broad.mit.edu	37	chr7	146536934	146536934	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagattgggtgacccaatacCggatgctctacagcgacaca	10	12	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:146536934C>A	uc003weu.1	+	3	856	c.340C>A	c.(340-342)CGG>AGG	p.R114R		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	114	F5/8 type C.|Extracellular (Potential).		R -> Q.		behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GACCCAATACCGGATGCTCTA	0.473										HNSCC(39;0.1)			A	146536934	C	A	146536934	2	1	15	1	0	0	0	0	0	0	0	1	3647	643	23	5		5	CNTNAP2	7	146536934	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	3395668	146536934	12601729	345	11786											
MLL3	58508	broad.mit.edu	37	chr7	151871239	151871239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcaccattggtggcatGcccagattgttttgtgccat	9	11	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:151871239G>A	uc003wla.2	-	39	9570	c.9351C>T	c.(9349-9351)GGC>GGT	p.G3117G	MLL3_uc003wkz.2_Silent_p.G2178G|MLL3_uc003wky.2_Silent_p.G626G	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3117	Gln-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTGGTGGCATGCCCAGATTGT	0.373			N		medulloblastoma								A	151871239	G	A	151871239	2	1	15	1	0	0	0	0	0	0	0	1	9622	1306	46	2		2	MLL3	7	151871239	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	5334305	151871239	7267424	346	11787											
HTR5A	3361	broad.mit.edu	37	chr7	154875885	154875885	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaggactctgccaaacaGccccagatggtgttcacggt	12	11	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr7:154875885G>T	uc003wlu.1	+	2	826	c.762G>T	c.(760-762)CAG>CAT	p.Q254H		NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	254	Cytoplasmic (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTGCCAAACAGCCCCAGATGG	0.617													T	154875885	G	T	154875885	3	4	15	1	0	0	0	0	1	0	0	0	7450	962	34	5	768	5	HTR5A	7	154875885	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	3004646	154875885	4262778	347	11788											
TNKS	8658	broad.mit.edu	37	chr8	9609294	9609294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccctttagcagagttggCcgtaggaggagcctccaatg	14	10	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:9609294C>T	uc003wss.2	+	19	3013	c.3008C>T	c.(3007-3009)GCC>GTC	p.A1003V	TNKS_uc011kww.1_Missense_Mutation_p.A766V|TNKS_uc010lrt.1_RNA	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	1003					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		GCAGAGTTGGCCGTAGGAGGA	0.547													T	9609294	C	T	9609294	3	4	15	1	0	0	0	0	1	0	0	0	16316	739	26	2	3082	2	TNKS	8	9609294	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08		9609294	136754728	348	11789											
ADAM7	8756	broad.mit.edu	37	chr8	24304725	24304725	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgaagaagaattgttgtaTgaaataaaactaaatagaaa	7	1	0	5			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:24304725T>C	uc003xeb.2	+	3	296	c.183T>C	c.(181-183)TAT>TAC	p.Y61Y	ADAM7_uc003xea.1_Silent_p.Y61Y	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	61	Extracellular (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)		AATTGTTGTATGAAATAAAAC	0.343													C	24304725	T	C	24304725	2	2	15	1	0	0	0	0	0	0	0	1	251	1471	51	3		3	ADAM7	8	24304725	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	14695431	24304725	122059297	349	11790											
GPR124	25960	broad.mit.edu	37	chr8	37691605	37691605	+	Frame_Shift_Del	DEL	G	G	-													tgggtgccctggagcgcattGggggggccgccctcagcccc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:37691605delG	uc003xkj.2	+	11	1930	c.1567delG	c.(1567-1569)GGGfs	p.G523fs	GPR124_uc010lvy.2_Frame_Shift_Del_p.G523fs	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	523	Extracellular (Potential).				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGAGCGCATTGGGGGGGCCGC	0.687													-	37691605	G	-	37691605	7	5	15	1	0	1	0	1	0	0	0	0	6638	1348	47	0	1588	0	GPR124	8	37691605	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	13386880	37691605	108672417	350	11791											
PRKDC	5591	broad.mit.edu	37	chr8	48848299	48848299	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgcaaacttacccacagtActaatgcaattcctgagaac	5	11	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:48848299A>G	uc003xqi.2	-	13	1497	c.1440T>C	c.(1438-1440)AGT>AGC	p.S480S	PRKDC_uc003xqj.2_Silent_p.S480S|PRKDC_uc011ldh.1_Silent_p.S480S	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	480					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TACCCACAGTACTAATGCAAT	0.373								NHEJ					G	48848299	A	G	48848299	2	3	15	1	0	0	0	0	0	0	0	1	12521	388	14	3		3	PRKDC	8	48848299	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	11156694	48848299	97515723	351	11792											
XKR4	114786	broad.mit.edu	37	chr8	56015465	56015465	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtggactactacctgcgCggccagcgctggtggttcgg	16	13	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:56015465C>T	uc003xsf.2	+	1	449	c.417C>T	c.(415-417)CGC>CGT	p.R139R		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	139						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			ACTACCTGCGCGGCCAGCGCT	0.632													T	56015465	C	T	56015465	2	4	15	1	0	0	0	0	0	0	0	1	17430	755	27	1		1	XKR4	8	56015465	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	7167166	56015465	90348557	352	11793											
MOS	4342	broad.mit.edu	37	chr8	57025893	57025894	+	Frame_Shift_Ins	INS	-	-	T													gagcaaccgaagtcactaatINStttacagacatcctgctcac							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:57025892_57025893A>AT	uc011leb.2	-	0	649_650	c.649_650T>AT	c.(649-651)attfs	p.I217fs		NM_005372	NP_005363	P00540	MOS_HUMAN	Homo sapiens v-mos Moloney murine sarcoma viral oncogene homolog (MOS), mRNA.	217	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GAAGTCACTAATTTTACAGACA	0.535													T	57025894	-	T	57025893	7	5	15	1	0	1	1	0	0	0	0	0	9712	1493	52	0	394	0	MOS	8	57025893	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	1010428	57025893	89338129	353	11794											
VCPIP1	80124	broad.mit.edu	37	chr8	67577294	67577294	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actcccaaattcacctggaaAgtgcttggtaacaagtttca	7	10	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:67577294A>C	uc003xwn.2	-	1	2159	c.1900T>G	c.(1900-1902)TTT>GTT	p.F634V	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	634					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TCACCTGGAAAGTGCTTGGTA	0.368													C	67577294	A	C	67577294	3	2	15	1	0	0	0	0	1	0	0	0	17138	72	3	5	1780	5	VCPIP1	8	67577294	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	10551401	67577294	78786728	354	11795											
ARFGEF1	10565	broad.mit.edu	37	chr8	68111330	68111330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagaatgatgcatgagcttTaaactgcagggaaaatgaat	11	4	0	4			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:68111330T>C	uc003xxo.1	-	39	5779	c.5389A>G	c.(5389-5391)AAA>GAA	p.K1797E	ARFGEF1_uc003xxl.1_Intron|ARFGEF1_uc003xxm.1_Missense_Mutation_p.K200E|ARFGEF1_uc003xxn.1_Missense_Mutation_p.K742E|ARFGEF1_uc003xxp.1_3'UTR	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1797					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCATGAGCTTTAAACTGCAGG	0.403													C	68111330	T	C	68111330	3	2	15	1	0	0	0	0	1	0	0	0	852	1763	61	3	164	3	ARFGEF1	8	68111330	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	534036	68111330	78252692	355	11796											
C8orf34	116328	broad.mit.edu	37	chr8	69434189	69434189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaaagtgaagatagtggCtctagtcctgcaggaaggtg	16	5	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:69434189C>T	uc010lyz.2	+	6	712	c.663C>T	c.(661-663)GGC>GGT	p.G221G	C8orf34_uc010lyy.1_Silent_p.G221G|C8orf34_uc003xyb.2_Silent_p.G196G	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	221					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AAGATAGTGGCTCTAGTCCTG	0.403													T	69434189	C	T	69434189	2	4	15	1	0	0	0	0	0	0	0	1	2422	784	28	2		2	C8orf34	8	69434189	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1322859	69434189	76929833	356	11797											
EYA1	2138	broad.mit.edu	37	chr8	72123448	72123448	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataacaacatacaccactttTcttccaaacctttgaattat	1	11	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:72123448T>C	uc003xys.3	-	16	1928	c.1641A>G	c.(1639-1641)AGA>AGG	p.R547R	EYA1_uc003xyr.3_Silent_p.R512R|EYA1_uc003xyt.3_Silent_p.R514R|EYA1_uc010lzf.2_Silent_p.R474R|EYA1_uc003xyu.2_Silent_p.R547R|EYA1_uc011lfe.1_Silent_p.R541R|EYA1_uc003xyv.2_Silent_p.R425R	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	547			R -> G (in anterior segment anomalies; with cataract).		double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ACACCACTTTTCTTCCAAACC	0.348													C	72123448	T	C	72123448	2	2	15	1	0	0	0	0	0	0	0	1	5328	1780	62	3		3	EYA1	8	72123448	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	2689259	72123448	74240574	357	11798											
ZNF704	619279	broad.mit.edu	37	chr8	81733851	81733851	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgcttaatgctccccacCtgtgaaatgaaacacagaaa	6	13	0	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:81733851C>T	uc003yby.1	-	2	212	c.-20_splice	c.e2-1			NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704							intracellular	zinc ion binding				0	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TGCTCCCCACCTGTGAAATGA	0.428													T	81733851	C	T	81733851	5	4	15	1	0	0	0	0	0	0	1	0	18104	695	24	4		4	ZNF704	8	81733851	Splice_Site	SNP	C	TCGA-BR-4280-01A-01D-1126-08	9610403	81733851	64630171	358	11799											
RALYL	138046	broad.mit.edu	37	chr8	85774590	85774590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtaattccgctgaagcGtcccagagtggcagtcacaa	11	11	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:85774590G>A	uc003ycq.3	+	7	889	c.473G>A	c.(472-474)CGT>CAT	p.R158H	RALYL_uc003ycr.3_Missense_Mutation_p.R158H|RALYL_uc003ycs.3_Missense_Mutation_p.R158H|RALYL_uc010lzy.2_Missense_Mutation_p.R147H|RALYL_uc003yct.3_Missense_Mutation_p.R171H|RALYL_uc003ycu.3_Missense_Mutation_p.R85H|RALYL_uc003ycv.3_Missense_Mutation_p.R70H	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like isoform 2	158							identical protein binding|nucleotide binding|RNA binding			ovary(1)	1						CCGCTGAAGCGTCCCAGAGTG	0.507													A	85774590	G	A	85774590	3	1	15	1	0	0	0	0	1	0	0	0	13020	1145	40	1	534	1	RALYL	8	85774590	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	4040739	85774590	60589432	359	11800											
TMEM67	91147	broad.mit.edu	37	chr8	94793160	94793160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggattagcacctcaagtgCtcagttctacctctcttcct	6	13	4	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:94793160C>T	uc011lgk.1	+	9	999	c.928C>T	c.(928-930)CTC>TTC	p.L310F	TMEM67_uc010mat.1_Missense_Mutation_p.L225F|TMEM67_uc010maw.2_Intron|TMEM67_uc003yga.3_Missense_Mutation_p.L229F	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	310					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			ovary(2)	2	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			ACCTCAAGTGCTCAGTTCTAC	0.323													T	94793160	C	T	94793160	3	4	15	1	0	0	0	0	1	0	0	0	16193	797	28	2	1100	2	TMEM67	8	94793160	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	9018570	94793160	51570862	360	11801											
CSMD3	114788	broad.mit.edu	37	chr8	113318350	113318350	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attacaaaaataggtaactcGcgttcctaccaaatagtctg	6	9	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:113318350G>A	uc003ynu.2	-	51	8116	c.7957C>T	c.(7957-7959)CGA>TGA	p.R2653*	CSMD3_uc003yns.2_Nonsense_Mutation_p.R1855*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.R2613*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.R2549*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2653	Extracellular (Potential).|Sushi 15.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TAGGTAACTCGCGTTCCTACC	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113318350	G	A	113318350	4	1	15	1	0	0	0	0	0	1	0	0	3946	1095	38	1	3250	1	CSMD3	8	113318350	Nonsense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	18525190	113318350	33045672	361	11802											
EXT1	2131	broad.mit.edu	37	chr8	118831966	118831966	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgagaagcttcaacactggCtgggactgagagaccagggg	15	9	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:118831966C>A	uc003yok.1	-	6	2258	c.1485G>T	c.(1483-1485)CAG>CAT	p.Q495H		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	495	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TCAACACTGGCTGGGACTGAG	0.557			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				A	118831966	C	A	118831966	3	1	15	1	0	0	0	0	1	0	0	0	5323	796	28	5	779	5	EXT1	8	118831966	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	5513616	118831966	27532056	362	11803											
COL22A1	169044	broad.mit.edu	37	chr8	139649029	139649029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatctgcaccacgttctcCttgacttcccttgaaaggaa	6	14	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:139649029C>T	uc003yvd.2	-	48	3958	c.3511G>A	c.(3511-3513)GGA>AGA	p.G1171R	COL22A1_uc011ljo.1_Missense_Mutation_p.G451R	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1171	Pro-rich.|Gly-rich.|Collagen-like 11.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCACGTTCTCCTTGACTTCCC	0.333										HNSCC(7;0.00092)			T	139649029	C	T	139649029	3	4	15	1	0	0	0	0	1	0	0	0	3681	690	24	4	1441	4	COL22A1	8	139649029	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	20817063	139649029	6714993	363	11804											
TRAPPC9	83696	broad.mit.edu	37	chr8	141321405	141321405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaggccgccagggagggCgatgggctccatggtcccag	19	11	0	1	rs148453804	byFrequency	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:141321405C>T	uc003yvj.2	-	10	1698	c.1564G>A	c.(1564-1566)GCC>ACC	p.A522T	TRAPPC9_uc003yvh.2_Missense_Mutation_p.A620T|TRAPPC9_uc003yvi.1_Missense_Mutation_p.A513T	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	522					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						CCAGGGAGGGCGATGGGCTCC	0.552													T	141321405	C	T	141321405	3	4	15	1	0	0	0	0	1	0	0	0	16462	768	27	1	1938	1	TRAPPC9	8	141321405	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1672376	141321405	5042617	364	11805											
TSNARE1	203062	broad.mit.edu	37	chr8	143427155	143427155	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctgctggccccagatcacCttccccgtccttccccacac	6	22	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:143427155C>A	uc003ywk.2	-	3	305	c.187G>T	c.(187-189)GGT>TGT	p.G63C	TSNARE1_uc011lju.1_Missense_Mutation_p.G63C|TSNARE1_uc003ywj.2_Missense_Mutation_p.G63C|TSNARE1_uc003ywl.3_Intron	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	63					vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCCAGATCACCTTCCCCGTCC	0.622													A	143427155	C	A	143427155	3	1	15	1	0	0	0	0	1	0	0	0	16627	681	24	5	1398	5	TSNARE1	8	143427155	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2105750	143427155	2936867	365	11806											
BAI1	575	broad.mit.edu	37	chr8	143558823	143558823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggctttcgggatcgcacgCgcacctgcaggcccccccag	13	17	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr8:143558823C>T	uc003ywm.2	+	5	1483	c.1300C>T	c.(1300-1302)CGC>TGC	p.R434C		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	434	Extracellular (Potential).|TSP type-1 3.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGATCGCACGCGCACCTGCAG	0.647													T	143558823	C	T	143558823	3	4	15	1	0	0	0	0	1	0	0	0	1298	768	27	1	1318	1	BAI1	8	143558823	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	131668	143558823	2805199	366	11807											
RANBP6	26953	broad.mit.edu	37	chr9	6013657	6013657	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccacatcctgtgtgtctaAgagagcaacatcaggtttag	9	9	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:6013657A>C	uc003zjr.2	-	1	1962	c.1951T>G	c.(1951-1953)TTA>GTA	p.L651V	RANBP6_uc011lmf.1_Missense_Mutation_p.L299V|RANBP6_uc003zjs.2_Missense_Mutation_p.L239V	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	651					protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TGTGTGTCTAAGAGAGCAACA	0.388													C	6013657	A	C	6013657	3	2	15	1	0	0	0	0	1	0	0	0	13031	69	3	5	1370	5	RANBP6	9	6013657	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08		6013657	135199774	367	11808											
PTPRD	5789	broad.mit.edu	37	chr9	8484205	8484205	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgaaggcaggcttggtAcgtaatacatctggtgcagt	12	8	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:8484205A>G	uc003zkk.2	-	29	4038	c.3327T>C	c.(3325-3327)CGT>CGC	p.R1109R	PTPRD_uc003zkp.2_Silent_p.R698R|PTPRD_uc003zkq.2_Silent_p.R698R|PTPRD_uc003zkr.2_Silent_p.R693R|PTPRD_uc003zks.2_Silent_p.R688R|PTPRD_uc003zkl.2_Silent_p.R1100R|PTPRD_uc003zkm.2_Silent_p.R1096R|PTPRD_uc003zkn.2_Silent_p.R698R|PTPRD_uc003zko.2_Silent_p.R695R	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1109	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CAGGCTTGGTACGTAATACAT	0.453										TSP Lung(15;0.13)			G	8484205	A	G	8484205	2	3	15	1	0	0	0	0	0	0	0	1	12799	378	14	3		3	PTPRD	9	8484205	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	2470548	8484205	132729226	368	11809											
BNC2	54796	broad.mit.edu	37	chr9	16435990	16435990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccttccatggattcctcGcccagtttgggctccgaaga	9	15	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:16435990G>A	uc003zml.2	-	6	2342	c.2202C>T	c.(2200-2202)GGC>GGT	p.G734G	BNC2_uc011lmw.1_Silent_p.G639G|BNC2_uc003zmm.2_Silent_p.G692G|BNC2_uc003zmq.1_Silent_p.G748G|BNC2_uc003zmr.1_Silent_p.G771G|BNC2_uc003zmp.1_Silent_p.G762G|BNC2_uc010mij.1_Silent_p.G656G|BNC2_uc011lmv.1_Silent_p.G560G|BNC2_uc003zmo.1_Silent_p.G656G|BNC2_uc003zmj.2_Silent_p.G499G|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Silent_p.G499G|BNC2_uc003zmn.1_Silent_p.G499G	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		TGGATTCCTCGCCCAGTTTGG	0.517													A	16435990	G	A	16435990	2	1	15	1	0	0	0	0	0	0	0	1	1475	1074	38	1		1	BNC2	9	16435990	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	7951785	16435990	124777441	369	11810											
CNTLN	54875	broad.mit.edu	37	chr9	17226276	17226276	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggatgccaaaatacaagaAtttgaacaggttggtgttat	10	4	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:17226276A>C	uc003zmz.2	+	3	551	c.525A>C	c.(523-525)GAA>GAC	p.E175D	CNTLN_uc003zmx.3_Missense_Mutation_p.E175D|CNTLN_uc003zmy.2_Missense_Mutation_p.E175D	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	175						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		AAATACAAGAATTTGAACAGG	0.244													C	17226276	A	C	17226276	3	2	15	1	0	0	0	0	1	0	0	0	3639	98	4	5	535	5	CNTLN	9	17226276	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	790286	17226276	123987155	370	11811											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18574264	18574264	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcagtggtttatgccaAgtaagtgctgatttgttctc	10	7	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:18574264A>G	uc003zne.3	+	4	601	c.474A>G	c.(472-474)CAA>CAG	p.Q158Q	ADAMTSL1_uc003znb.2_Silent_p.Q158Q|ADAMTSL1_uc003znc.3_Silent_p.Q158Q	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	158						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		GTTTATGCCAAGTAAGTGCTG	0.403													G	18574264	A	G	18574264	2	3	15	1	0	0	0	0	0	0	0	1	274	86	3	3		3	ADAMTSL1	9	18574264	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1347988	18574264	122639167	371	11812											
HAUS6	54801	broad.mit.edu	37	chr9	19063047	19063047	+	Frame_Shift_Del	DEL	T	T	-													ctctttttgaaatggatcacTttttttagctggcaaagacc					rs34558496		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:19063046_19063046CT>C	uc003znk.3	-	13	1842	c.1589_1589AG>G	c.(1588-1590)agtfs	p.S530fs	HAUS6_uc011lmz.2_Frame_Shift_Del_p.S250fs|HAUS6_uc022bdv.1_Frame_Shift_Del_p.S394fs|HAUS6_uc003znl.1_Frame_Shift_Del_p.S394fs|HAUS6_uc003znm.1_Frame_Shift_Del_p.S285fs	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA.	530					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAATGGATCACTTTTTTTAGC	0.373													-	19063047	T	-	19063047	7	5	15	1	0	1	0	1	0	0	0	0	6970	1609	56	0	1295	0	HAUS6	9	19063047	Frame_Shift_Del	DEL	T	TCGA-BR-4280-01A-01D-1126-08	488783	19063047	122150384	372	11813											
ACER2	340485	broad.mit.edu	37	chr9	19424786	19424786	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgggttctgatgtgtgcTttggccatgtggttccccag	13	9	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:19424786T>G	uc003zny.1	+	3	470	c.312T>G	c.(310-312)GCT>GCG	p.A104A	ACER2_uc003znx.1_RNA|ACER2_uc003znz.1_Silent_p.A55A	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	104	Helical; (Potential).				ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						TGATGTGTGCTTTGGCCATGT	0.443													G	19424786	T	G	19424786	2	3	15	1	0	0	0	0	0	0	0	1	139	1596	56	5		5	ACER2	9	19424786	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	361739	19424786	121788645	373	11814											
SLC24A2	25769	broad.mit.edu	37	chr9	19516258	19516258	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaggattttgttcattcGccacttgcagagggcgatag	12	10	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:19516258G>A	uc003zoa.1	-	10	1941	c.1879C>T	c.(1879-1881)CGA>TGA	p.R627*	SLC24A2_uc003zob.1_Nonsense_Mutation_p.R610*	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	627	Extracellular (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TTGTTCATTCGCCACTTGCAG	0.512													A	19516258	G	A	19516258	4	1	15	1	0	0	0	0	0	1	0	0	14466	1095	38	1	110	1	SLC24A2	9	19516258	Nonsense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	91472	19516258	121697173	374	11815											
IFT74	80173	broad.mit.edu	37	chr9	26984556	26984556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaactagcagactacaacaTggtattttatcttttctaag	5	8	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:26984556T>C	uc010mja.2	+	6	591	c.464T>C	c.(463-465)ATG>ACG	p.M155T	IFT74_uc010mjb.2_Missense_Mutation_p.M155T|IFT74_uc003zqf.3_Missense_Mutation_p.M155T|IFT74_uc003zqg.3_Missense_Mutation_p.M155T	NM_001099223	NP_001092693	Q96LB3	IFT74_HUMAN	coiled-coil domain containing 2 isoform a	155	Potential.					cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				skin(1)	1		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		GACTACAACATGGTATTTTAT	0.239													C	26984556	T	C	26984556	3	2	15	1	0	0	0	0	1	0	0	0	7563	1478	51	3	482	3	IFT74	9	26984556	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	7468298	26984556	114228875	375	11816											
C9orf72	203228	broad.mit.edu	37	chr9	27566788	27566788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaagtataattgatagtcCatatgtgctgcgatccccat	9	8	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:27566788C>T	uc003zqq.2	-	2	428	c.331G>A	c.(331-333)GGA>AGA	p.G111R	C9orf72_uc003zqr.1_Missense_Mutation_p.G111R	NM_018325	NP_060795	Q96LT7	CI072_HUMAN	hypothetical protein LOC203228 isoform a	111										ovary(3)|central_nervous_system(1)	4		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		ATTGATAGTCCATATGTGCTG	0.363													T	27566788	C	T	27566788	3	4	15	1	0	0	0	0	1	0	0	0	2495	603	21	4	1158	4	C9orf72	9	27566788	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	582232	27566788	113646643	376	11817											
TAF1L	138474	broad.mit.edu	37	chr9	32635575	32635575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaaatcgcagccgggtcgCataaaccggaaataaaacaa	9	10	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:32635575C>T	uc003zrg.1	-	1	93	c.3G>A	c.(1-3)ATG>ATA	p.M1I	uc003zrh.1_Intron	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGCCGGGTCGCATAAACCGGA	0.572													T	32635575	C	T	32635575	3	4	15	1	0	0	0	0	1	0	0	0	15520	710	25	2	5481	2	TAF1L	9	32635575	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	5068787	32635575	108577856	377	11818											
PRSS3	5646	broad.mit.edu	37	chr9	33797910	33797910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgcggccaagatcatccGccaccctaaatacaacaggg	8	14	1	1	rs146360076	byFrequency	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:33797910G>A	uc003ztj.3	+	3	455	c.455G>A	c.(454-456)CGC>CAC	p.R152H	uc003ztk.1_Intron|PRSS3_uc003zti.3_Missense_Mutation_p.R109H|PRSS3_uc003ztl.3_Missense_Mutation_p.R95H	NM_007343	NP_031369	P35030	TRY3_HUMAN	mesotrypsin isoform 1 preproprotein	152	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity				0			LUSC - Lung squamous cell carcinoma(29;0.0176)			AAGATCATCCGCCACCCTAAA	0.547													A	33797910	G	A	33797910	3	1	15	1	0	0	0	0	1	0	0	0	12622	1087	38	1	509	1	PRSS3	9	33797910	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1162335	33797910	107415521	378	11819											
PIGO	84720	broad.mit.edu	37	chr9	35091339	35091339	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcgctccgcatgcaacaGcagaagtgggaaggccaaca	13	11	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:35091339G>A	uc003zwd.2	-	7	2941	c.2545C>T	c.(2545-2547)CTG>TTG	p.L849L	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Silent_p.L412L	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	849	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCATGCAACAGCAGAAGTGGG	0.562													A	35091339	G	A	35091339	2	1	15	1	0	0	0	0	0	0	0	1	11894	962	34	2		2	PIGO	9	35091339	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1293429	35091339	106122092	379	11820											
RUSC2	9853	broad.mit.edu	37	chr9	35558504	35558504	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctacaacaaagtcagccAattcccagagctcaccagtc	5	16	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:35558504A>G	uc003zww.2	+	8	3536	c.3281A>G	c.(3280-3282)CAA>CGA	p.Q1094R	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.Q1094R	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1094	RUN.					cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AAAGTCAGCCAATTCCCAGAG	0.542													G	35558504	A	G	35558504	3	3	15	1	0	0	0	0	1	0	0	0	13751	130	5	3	3307	3	RUSC2	9	35558504	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	467165	35558504	105654927	380	11821											
OR13J1	392309	broad.mit.edu	37	chr9	35869672	35869672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcactacagccaggtgtgCcaagcaggtggagaaggctt	14	10	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:35869672C>T	uc011lph.1	-	1	727	c.727G>A	c.(727-729)GCA>ACA	p.A243T		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GCCAGGTGTGCCAAGCAGGTG	0.557													T	35869672	C	T	35869672	3	4	15	1	0	0	0	0	1	0	0	0	10944	739	26	2	214	2	OR13J1	9	35869672	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	311168	35869672	105343759	381	11822											
TMEM2	23670	broad.mit.edu	37	chr9	74360369	74360369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccatacaaggtaattgtcGctttggatttatagcggcat	10	7	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:74360369G>A	uc011lsa.1	-	4	1139	c.599C>T	c.(598-600)GCG>GTG	p.A200V	TMEM2_uc010mos.2_Missense_Mutation_p.A200V|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	200	G8.					integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GGTAATTGTCGCTTTGGATTT	0.433													A	74360369	G	A	74360369	3	1	15	1	0	0	0	0	1	0	0	0	16118	1087	38	1	3636	1	TMEM2	9	74360369	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	38490697	74360369	66853062	382	11823											
VPS13A	23230	broad.mit.edu	37	chr9	79955199	79955199	+	Splice_Site	DEL	G	G	-													gcctgaaaatggactatcaaGtgagttcattctatgcttat							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:79955199delG	uc004akr.2	+	49	7139	c.6879_splice	c.e49+1	p.Q2293_splice	VPS13A_uc004akp.3_Splice_Site_p.Q2293_splice|VPS13A_uc004akq.3_Splice_Site_p.Q2293_splice|VPS13A_uc004aks.2_Splice_Site_p.Q2254_splice	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A						Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						GGACTATCAAGTGAGTTCATT	0.289													-	79955199	G	-	79955199	8	5	15	1	0	1	0	1	0	0	1	0	17186	1043	36	0	7074	0	VPS13A	9	79955199	Splice_Site	DEL	G	TCGA-BR-4280-01A-01D-1126-08	5594830	79955199	61258232	383	11824											
GNAQ	2776	broad.mit.edu	37	chr9	80336240	80336240	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtctaggaggcacaatTagaccagattgtactccttc	11	9	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:80336240T>C	uc004akw.2	-	7	1120	c.1079A>G	c.(1078-1080)TAA>TGA	p.*360*	GNAQ_uc011lso.1_Silent_p.*158*|GNAQ_uc004akv.1_5'Flank	NM_002072	NP_002063	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein),	360					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			eye(136)|skin(44)|meninges(11)|ovary(1)|kidney(1)	193						GAGGCACAATTAGACCAGATT	0.488			Mis		uveal melanoma								C	80336240	T	C	80336240	2	2	15	1	0	0	0	0	0	0	0	1	6509	1761	61	3		3	GNAQ	9	80336240	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	381041	80336240	60877191	384	11825											
TLE1	7088	broad.mit.edu	37	chr9	84225192	84225192	+	Frame_Shift_Del	DEL	G	G	-													tggtaggtactctcatgtgaGggggaggatcaaaccccacc					rs143065311		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:84225192delG	uc004aly.2	-	14	1715	c.1274delC	c.(1273-1275)CCTfs	p.P425fs	TLE1_uc004alz.2_Frame_Shift_Del_p.P435fs|TLE1_uc011lsr.1_Frame_Shift_Del_p.P410fs|TLE1_uc004ama.1_Frame_Shift_Del_p.P424fs	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	425	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2						TCTCATGTGAGGGGGAGGATC	0.448													-	84225192	G	-	84225192	7	5	15	1	0	1	0	1	0	0	0	0	15935	1000	35	0	1066	0	TLE1	9	84225192	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	3888952	84225192	56988239	385	11826											
ZNF484	83744	broad.mit.edu	37	chr9	95609713	95609713	+	Frame_Shift_Del	DEL	T	T	-													tgatgcacatggagttgtgaTtttttaataaaggatttccc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:95609713delT	uc004asu.1	-	5	1505	c.1356delA	c.(1354-1356)AAAfs	p.K452fs	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Frame_Shift_Del_p.K454fs|ZNF484_uc010mrb.1_Frame_Shift_Del_p.K416fs|ZNF484_uc004asv.1_Frame_Shift_Del_p.K416fs	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	452	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGAGTTGTGATTTTTTAATAA	0.383													-	95609713	T	-	95609713	7	5	15	1	0	1	0	1	0	0	0	0	17934	1490	52	0	1206	0	ZNF484	9	95609713	Frame_Shift_Del	DEL	T	TCGA-BR-4280-01A-01D-1126-08	11384521	95609713	45603718	386	11827											
PHF2	5253	broad.mit.edu	37	chr9	96428055	96428055	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcccaagcccgtgcgggaTgagtatgagtacgtgtcgga	15	9	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:96428055T>C	uc004aub.2	+	15	2172	c.2025T>C	c.(2023-2025)GAT>GAC	p.D675D	PHF2_uc011lug.1_Silent_p.D558D|PHF2_uc004auc.2_Silent_p.D94D	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	675					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCGTGCGGGATGAGTATGAGT	0.582													C	96428055	T	C	96428055	2	2	15	1	0	0	0	0	0	0	0	1	11830	1461	51	3		3	PHF2	9	96428055	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	818342	96428055	44785376	387	11828											
PTPDC1	138639	broad.mit.edu	37	chr9	96860859	96860859	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggaaggtagaaatgtggCaggtattattagtacttaat	11	2	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:96860859C>T	uc004auf.1	+	7	2189	c.1849C>T	c.(1849-1851)CAG>TAG	p.Q617*	PTPDC1_uc004aug.1_Intron|PTPDC1_uc004auh.1_Nonsense_Mutation_p.Q669*|PTPDC1_uc010mrj.1_Nonsense_Mutation_p.Q671*|PTPDC1_uc010mri.1_Nonsense_Mutation_p.Q669*	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	617							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1						AGAAATGTGGCAGGTATTATT	0.333													T	96860859	C	T	96860859	4	4	15	1	0	0	0	0	0	1	0	0	12773	711	25	2	2113	2	PTPDC1	9	96860859	Nonsense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	432804	96860859	44352572	388	11829											
TEX10	54881	broad.mit.edu	37	chr9	103066108	103066109	+	Frame_Shift_Ins	INS	-	-	C													gccaggatggagacacagacINScccccacagcttgtccctac							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:103066107_103066108A>AC	uc004bas.3	-	13	2697_2698	c.2482_2483T>GT	c.(2482-2484)gtcfs	p.V828fs	TEX10_uc011lvf.2_Frame_Shift_Ins_p.V667fs|TEX10_uc011lvg.2_Intron	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA.	828						MLL1 complex|integral to membrane|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		GGAGACACAGACCCCCCACAGC	0.545													C	103066109	-	C	103066108	7	5	15	1	0	1	1	0	0	0	0	0	15769	507	18	0	315	0	TEX10	9	103066108	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	6205249	103066108	38147323	389	11830											
OR13C9	286362	broad.mit.edu	37	chr9	107379859	107379859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataactatcaagagcagtggCatcaatgtgaacaatattgt	8	6	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:107379859C>T	uc011lvr.1	-	1	627	c.627G>A	c.(625-627)ATG>ATA	p.M209I		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGAGCAGTGGCATCAATGTGA	0.433													T	107379859	C	T	107379859	3	4	15	1	0	0	0	0	1	0	0	0	10939	710	25	2	332	2	OR13C9	9	107379859	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	4313751	107379859	33833572	390	11831											
MUSK	4593	broad.mit.edu	37	chr9	113530131	113530131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagataacaaaggctactgcGcccagtacagaggggaggtg	14	8	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:113530131G>A	uc004bey.2	+	8	1050	c.952G>A	c.(952-954)GCC>ACC	p.A318T		NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	318	FZ.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						AGGCTACTGCGCCCAGTACAG	0.433													A	113530131	G	A	113530131	3	1	15	1	0	0	0	0	1	0	0	0	9989	1087	38	1	1016	1	MUSK	9	113530131	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	6150272	113530131	27683300	391	11832											
SUSD1	64420	broad.mit.edu	37	chr9	114905868	114905868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcacgcatcgccctccatGcctgcacaggccagaaactt	8	16	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:114905868G>A	uc004bfu.2	-	4	450	c.409C>T	c.(409-411)CAT>TAT	p.H137Y	SUSD1_uc010mui.2_Missense_Mutation_p.H137Y|SUSD1_uc010muj.2_Missense_Mutation_p.H137Y	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1 precursor	137	EGF-like 3; calcium-binding (Potential).|Extracellular (Potential).					integral to membrane	calcium ion binding				0						CGCCCTCCATGCCTGCACAGG	0.418													A	114905868	G	A	114905868	3	1	15	1	0	0	0	0	1	0	0	0	15404	1319	46	2	1890	2	SUSD1	9	114905868	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1375737	114905868	26307563	392	11833											
RGS3	5998	broad.mit.edu	37	chr9	116353631	116353631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgagcggggctgacaccGttggggatgatgacgaagcc	17	8	0	5			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:116353631G>A	uc004bhq.2	+	22	3243	c.3034G>A	c.(3034-3036)GTT>ATT	p.V1012I	RGS3_uc004bhs.2_Missense_Mutation_p.V902I|RGS3_uc004bht.2_Missense_Mutation_p.V731I|RGS3_uc010muy.2_Missense_Mutation_p.V405I|RGS3_uc004bhv.2_Missense_Mutation_p.V333I|RGS3_uc010muz.1_Missense_Mutation_p.V351I|RGS3_uc004bhw.2_Intron|RGS3_uc011lxh.1_Missense_Mutation_p.V322I|RGS3_uc004bhx.2_Missense_Mutation_p.V333I|RGS3_uc004bhy.1_Missense_Mutation_p.V322I|RGS3_uc004bhz.2_Missense_Mutation_p.V354I|RGS3_uc004bia.2_5'Flank	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	1012					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						GGCTGACACCGTTGGGGATGA	0.572													A	116353631	G	A	116353631	3	1	15	1	0	0	0	0	1	0	0	0	13306	1145	40	1	3369	1	RGS3	9	116353631	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1447763	116353631	24859800	393	11834											
AKNA	80709	broad.mit.edu	37	chr9	117122197	117122197	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctccatgaggccatggtaaActtgctccatctgcagctcc	9	14	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:117122197A>T	uc004biq.3	-	9	2405	c.2270T>A	c.(2269-2271)GTT>GAT	p.V757D	AKNA_uc004bin.3_Missense_Mutation_p.V4D|AKNA_uc004bio.3_Missense_Mutation_p.V217D|AKNA_uc004bip.3_Missense_Mutation_p.V676D|AKNA_uc004bir.3_Missense_Mutation_p.V757D|AKNA_uc004bis.3_Missense_Mutation_p.V757D|AKNA_uc010mve.2_Missense_Mutation_p.V638D|AKNA_uc004biu.1_Missense_Mutation_p.V498D|AKNA_uc004biv.1_Missense_Mutation_p.V757D	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	757					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6						GCCATGGTAAACTTGCTCCAT	0.617													T	117122197	A	T	117122197	3	4	15	1	0	0	0	0	1	0	0	0	463	43	2	5	2101	5	AKNA	9	117122197	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	768566	117122197	24091234	394	11835											
C9orf91	203197	broad.mit.edu	37	chr9	117379548	117379548	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcccctggctggagtgccCtgcctggagggagccctcct	13	17	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:117379548C>A	uc004bjd.3	+	2	290	c.73C>A	c.(73-75)CTG>ATG	p.L25M	C9orf91_uc004bje.3_Translation_Start_Site	NM_153045	NP_694590	Q5VZI3	CI091_HUMAN	hypothetical protein LOC203197	25						integral to membrane				pancreas(1)	1						CTGGAGTGCCCTGCCTGGAGG	0.617													A	117379548	C	A	117379548	3	1	15	1	0	0	0	0	1	0	0	0	2505	680	24	5	75	5	C9orf91	9	117379548	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	257351	117379548	23833883	395	11836											
TRIM32	22954	broad.mit.edu	37	chr9	119461306	119461306	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggggcagatctacccaacCtcactcctctctcagtggca	8	15	4	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:119461306C>A	uc004bjx.2	+	2	1443	c.1285C>A	c.(1285-1287)CTC>ATC	p.L429I	ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.L429I	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN	tripartite motif-containing 32	429	NHL 2.				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|kidney(1)	3						TCTACCCAACCTCACTCCTCT	0.512									Bardet-Biedl_syndrome				A	119461306	C	A	119461306	3	1	15	1	0	0	0	0	1	0	0	0	16503	681	24	5	1287	5	TRIM32	9	119461306	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2081758	119461306	21752125	396	11837											
OR1L3	26735	broad.mit.edu	37	chr9	125437522	125437522	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttatcatatacctggtcacTttgatgggaaatctgctcat	7	9	4	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:125437522T>C	uc011lzb.1	+	1	114	c.114T>C	c.(112-114)ACT>ACC	p.T38T		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L,	38	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						ACCTGGTCACTTTGATGGGAA	0.428													C	125437522	T	C	125437522	2	2	15	1	0	0	0	0	0	0	0	1	10964	1596	56	3		3	OR1L3	9	125437522	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	5976216	125437522	15775909	397	11838											
OR5C1	392391	broad.mit.edu	37	chr9	125551855	125551855	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcatccagacagccacggTgttagctatcacggtgtctt	9	12	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:125551855T>C	uc011lzd.1	+	1	644	c.644T>C	c.(643-645)GTG>GCG	p.V215A		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C,	215	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1						ACAGCCACGGTGTTAGCTATC	0.582													C	125551855	T	C	125551855	3	2	15	1	0	0	0	0	1	0	0	0	11153	1696	59	3	646	3	OR5C1	9	125551855	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	114333	125551855	15661576	398	11839											
DNM1	1759	broad.mit.edu	37	chr9	130980885	130980885	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccgagttcctgcactgcaAgggaaagaaattcaccgact	10	11	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:130980885A>G	uc011mau.1	+	3	347	c.260A>G	c.(259-261)AAG>AGG	p.K87R	DNM1_uc010mxr.2_Missense_Mutation_p.K87R|DNM1_uc011mat.1_Missense_Mutation_p.K87R	NM_004408	NP_004399	Q05193	DYN1_HUMAN	dynamin 1 isoform 1	87					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			ovary(2)	2						CTGCACTGCAAGGGAAAGAAA	0.597													G	130980885	A	G	130980885	3	3	15	1	0	0	0	0	1	0	0	0	4670	72	3	3	270	3	DNM1	9	130980885	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	5429030	130980885	10232546	399	11840											
TBC1D13	54662	broad.mit.edu	37	chr9	131570101	131570101	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtgcccaggactacccCatcacagatgtctgccagat	8	15	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:131570101C>A	uc010myj.2	+	12	1269	c.1146C>A	c.(1144-1146)CCC>CCA	p.P382P	TBC1D13_uc010myk.2_Silent_p.P257P|TBC1D13_uc010myl.2_Silent_p.P201P	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	382						intracellular	Rab GTPase activator activity				0						AGGACTACCCCATCACAGATG	0.607													A	131570101	C	A	131570101	2	1	15	1	0	0	0	0	0	0	0	1	15599	581	21	5		5	TBC1D13	9	131570101	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	589216	131570101	9643330	400	11841											
C9orf114	51490	broad.mit.edu	37	chr9	131588302	131588302	+	Frame_Shift_Del	DEL	T	T	-													cccatctttctgttcctaccTttttcatgccacagttgaca							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:131588302delT	uc004bwd.2	-	7	664	c.638delA	c.(637-639)AAGfs	p.K213fs	C9orf114_uc004bwe.2_Frame_Shift_Del_p.K213fs|C9orf114_uc010mym.2_RNA	NM_016390	NP_057474	Q5T280	CI114_HUMAN	hypothetical protein LOC51490	213											0						TGTTCCTACCTTTTTCATGCC	0.592													-	131588302	T	-	131588302	7	5	15	1	0	1	0	1	0	0	0	0	2449	1623	56	0	516	0	C9orf114	9	131588302	Frame_Shift_Del	DEL	T	TCGA-BR-4280-01A-01D-1126-08	18201	131588302	9625129	401	11842											
LAMC3	10319	broad.mit.edu	37	chr9	133901811	133901811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctgccagaagacctaCggccggcccgagggccagta	13	16	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:133901811C>T	uc004caa.1	+	2	611	c.513C>T	c.(511-513)TAC>TAT	p.Y171Y		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	171	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGAAGACCTACGGCCGGCCCG	0.677													T	133901811	C	T	133901811	2	4	15	1	0	0	0	0	0	0	0	1	8616	547	19	1		1	LAMC3	9	133901811	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2313509	133901811	7311620	402	11843											
GTF3C5	9328	broad.mit.edu	37	chr9	135917576	135917576	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagtaccagcagcctgctgCtccgcatcaggaagagaacg	11	13	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:135917576C>A	uc004cci.3	+	2	593	c.256C>A	c.(256-258)CTC>ATC	p.L86I	GTF3C5_uc010mzz.2_Intron|GTF3C5_uc004ccj.3_Missense_Mutation_p.L86I	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	86						transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		CAGCCTGCTGCTCCGCATCAG	0.607													A	135917576	C	A	135917576	3	1	15	1	0	0	0	0	1	0	0	0	6876	797	28	5	262	5	GTF3C5	9	135917576	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2015765	135917576	5295855	403	11844											
RXRA	6256	broad.mit.edu	37	chr9	137328407	137328407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagctcatcggggacacaCccattgacaccttccttatg	7	14	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:137328407C>T	uc004cfb.2	+	10	1498	c.1336C>T	c.(1336-1338)CCC>TCC	p.P446S	RXRA_uc004cfc.1_Missense_Mutation_p.P349S	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	446	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CGGGGACACACCCATTGACAC	0.597													T	137328407	C	T	137328407	3	4	15	1	0	0	0	0	1	0	0	0	13763	507	18	4	1374	4	RXRA	9	137328407	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1410831	137328407	3885024	404	11845											
CAMSAP1	157922	broad.mit.edu	37	chr9	138703390	138703390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatagtagcagtaaagcGccctgaactggcagccagca	12	11	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:138703390G>A	uc004cgr.3	-	17	4574	c.4574C>T	c.(4573-4575)GCG>GTG	p.A1525V	CAMSAP1_uc004cgq.3_Missense_Mutation_p.A1415V|CAMSAP1_uc010nbg.2_Missense_Mutation_p.A1247V	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1525	CKK.					cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GCAGTAAAGCGCCCTGAACTG	0.458													A	138703390	G	A	138703390	3	1	15	1	0	0	0	0	1	0	0	0	2611	1087	38	1	238	1	CAMSAP1	9	138703390	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1374983	138703390	2510041	405	11846											
SEC16A	9919	broad.mit.edu	37	chr9	139368727	139368727	+	Frame_Shift_Del	DEL	G	G	-													tagaggactgaggaggccgaGggggcagctgctgacccgcg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:139368727delG	uc004chx.2	-	3	3650	c.3341delC	c.(3340-3342)CCTfs	p.P1114fs	SEC16A_uc004chv.3_Frame_Shift_Del_p.P504fs|SEC16A_uc004chw.2_Frame_Shift_Del_p.P1114fs|SEC16A_uc010nbn.2_Frame_Shift_Del_p.P1114fs|SEC16A_uc010nbo.1_Frame_Shift_Del_p.P1114fs	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	936	Pro-rich.|Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AGGAGGCCGAGGGGGCAGCTG	0.637													-	139368727	G	-	139368727	7	5	15	1	0	1	0	1	0	0	0	0	13986	1000	35	0	3852	0	SEC16A	9	139368727	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	665337	139368727	1844704	406	11847											
NOTCH1	4851	broad.mit.edu	37	chr9	139409854	139409854	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatctcgcagttgggtccTgaaggggtggcacgtgtcgg	17	8	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:139409854T>C	uc004chz.2	-	12	1904	c.1904_splice	c.e12-1	p.G635_splice	NOTCH1_uc004cia.1_5'Flank	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein						aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGTTGGGTCCTGAAGGGGTGG	0.682			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			C	139409854	T	C	139409854	5	2	15	1	0	0	0	0	0	0	1	0	10547	1594	55	3	5857	3	NOTCH1	9	139409854	Splice_Site	SNP	T	TCGA-BR-4280-01A-01D-1126-08	41127	139409854	1803577	407	11848											
C9orf172	389813	broad.mit.edu	37	chr9	139739752	139739752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttccggggcagctttgcaGccagtcccggcccaaccttc	11	17	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr9:139739752G>A	uc011meh.1	+	1	886	c.886G>A	c.(886-888)GCC>ACC	p.A296T	PHPT1_uc004cjp.2_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	296	Pro-rich.										0						CAGCTTTGCAGCCAGTCCCGG	0.682													A	139739752	G	A	139739752	3	1	15	1	0	0	0	0	1	0	0	0	2471	971	34	2	888	2	C9orf172	9	139739752	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	329898	139739752	1473679	408	11849											
C10orf18	54906	broad.mit.edu	37	chr10	5789072	5789072	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatttcgtcaggatgccacAcatcaggtgactctttagaa	9	10	3	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:5789072A>G	uc001iij.2	+	15	4313	c.3688A>G	c.(3688-3690)ACA>GCA	p.T1230A	C10orf18_uc001iik.2_Missense_Mutation_p.T74A	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	1230										ovary(1)|central_nervous_system(1)	2						AGGATGCCACACATCAGGTGA	0.418													G	5789072	A	G	5789072	3	3	15	1	0	0	0	0	1	0	0	0	1596	159	6	3	3734	3	C10orf18	10	5789072	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08		5789072	129745675	409	11850											
UPF2	26019	broad.mit.edu	37	chr10	12070793	12070793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtggtcccttttcaggtGtttggtcaaagacgtaaagt	11	8	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:12070793G>A	uc001ila.2	-	2	1570	c.1096C>T	c.(1096-1098)CAC>TAC	p.H366Y	UPF2_uc001ilb.2_Missense_Mutation_p.H366Y|UPF2_uc001ilc.2_Missense_Mutation_p.H366Y|UPF2_uc009xiz.1_Missense_Mutation_p.H366Y	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	366	MIF4G 1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				CTTTTCAGGTGTTTGGTCAAA	0.378													A	12070793	G	A	12070793	3	1	15	1	0	0	0	0	1	0	0	0	17001	1377	48	4	2802	4	UPF2	10	12070793	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	6281721	12070793	123463954	410	11851											
NEBL	10529	broad.mit.edu	37	chr10	21074772	21074772	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcgtcaataggctgcacGttgacgatgtagtcgccgtc	11	12	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:21074772G>A	uc001iqi.2	-	28	3346	c.2949C>T	c.(2947-2949)AAC>AAT	p.N983N	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Silent_p.N239N	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	983	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						TAGGCTGCACGTTGACGATGT	0.483													A	21074772	G	A	21074772	2	1	15	1	0	0	0	0	0	0	0	1	10303	1136	40	1		1	NEBL	10	21074772	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	9003979	21074772	114459975	411	11852											
ARMC4	55130	broad.mit.edu	37	chr10	28274045	28274045	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcactttcaggatcatcatCtctggtaattttgccaagaa	6	9	5	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:28274045C>G	uc009xky.2	-	4	576	c.478G>C	c.(478-480)GAT>CAT	p.D160H	ARMC4_uc010qdt.1_5'Flank|ARMC4_uc001itz.2_Missense_Mutation_p.D160H	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	160							binding			ovary(4)|skin(2)	6						GGATCATCATCTCTGGTAATT	0.353													G	28274045	C	G	28274045	3	3	15	1	0	0	0	0	1	0	0	0	953	913	32	5	2724	5	ARMC4	10	28274045	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	7199273	28274045	107260702	412	11853											
ERCC6	2074	broad.mit.edu	37	chr10	50686483	50686483	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatggatttatggtatctcGtaagacacatgcacacttgt	9	7	1	1	rs121917901		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:50686483G>A	uc001jhs.3	-	11	2357	c.2203C>T	c.(2203-2205)CGA>TGA	p.R735*	ERCC6_uc009xod.2_5'Flank|ERCC6_uc010qgr.1_Nonsense_Mutation_p.R105*|ERCC6_uc001jhr.3_Nonsense_Mutation_p.R135*	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	735					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						ATGGTATCTCGTAAGACACAT	0.388								Direct_reversal_of_damage|NER					A	50686483	G	A	50686483	4	1	15	1	0	0	0	0	0	1	0	0	5217	1153	40	1	2322	1	ERCC6	10	50686483	Nonsense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	22412438	50686483	84848264	413	11854											
PCDH15	65217	broad.mit.edu	37	chr10	55581859	55581859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgccttttggttctctcTgagggtctgttttacacact	10	9	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:55581859T>C	uc001jju.1	-	33	6022	c.5627A>G	c.(5626-5628)CAG>CGG	p.Q1876R	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.Q730R|PCDH15_uc010qhv.1_Missense_Mutation_p.Q1873R|PCDH15_uc010qhw.1_Missense_Mutation_p.Q1836R|PCDH15_uc010qhx.1_Missense_Mutation_p.Q1807R|PCDH15_uc010qhy.1_Missense_Mutation_p.Q1883R|PCDH15_uc010qhz.1_Missense_Mutation_p.Q1878R|PCDH15_uc010qia.1_Missense_Mutation_p.Q1856R|PCDH15_uc010qib.1_Missense_Mutation_p.Q1853R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1876	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGTTCTCTCTGAGGGTCTGT	0.393										HNSCC(58;0.16)			C	55581859	T	C	55581859	3	2	15	1	0	0	0	0	1	0	0	0	11511	1580	55	3	1850	3	PCDH15	10	55581859	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	4895376	55581859	79952888	414	11855											
PCDH15	65217	broad.mit.edu	37	chr10	55721625	55721625	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactgtacatcatctactcTatacctcacacgacttgcag	4	13	4	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:55721625T>C	uc001jju.1	-	22	3291	c.2896A>G	c.(2896-2898)AGA>GGA	p.R966G	PCDH15_uc010qhq.1_Missense_Mutation_p.R971G|PCDH15_uc010qhr.1_Missense_Mutation_p.R966G|PCDH15_uc010qhs.1_Missense_Mutation_p.R978G|PCDH15_uc010qht.1_Missense_Mutation_p.R973G|PCDH15_uc010qhu.1_Missense_Mutation_p.R966G|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.R966G|PCDH15_uc010qhw.1_Missense_Mutation_p.R929G|PCDH15_uc010qhx.1_Missense_Mutation_p.R895G|PCDH15_uc010qhy.1_Missense_Mutation_p.R971G|PCDH15_uc010qhz.1_Missense_Mutation_p.R966G|PCDH15_uc010qia.1_Missense_Mutation_p.R944G|PCDH15_uc010qib.1_Missense_Mutation_p.R944G	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	966	Extracellular (Potential).|Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TCATCTACTCTATACCTCACA	0.328										HNSCC(58;0.16)			C	55721625	T	C	55721625	3	2	15	1	0	0	0	0	1	0	0	0	11511	1530	53	3	4638	3	PCDH15	10	55721625	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	139766	55721625	79813122	415	11856											
CTNNA3	29119	broad.mit.edu	37	chr10	68940246	68940246	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggtcgtatttcctcctcAgttactgtgagtggattcag	11	8	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:68940246A>G	uc009xpn.1	-	7	999	c.876T>C	c.(874-876)ACT>ACC	p.T292T	CTNNA3_uc001jmw.2_Silent_p.T292T|CTNNA3_uc001jmx.3_Silent_p.T292T|CTNNA3_uc009xpo.1_Silent_p.T152T|CTNNA3_uc001jna.2_Silent_p.T304T	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	292					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						TTTCCTCCTCAGTTACTGTGA	0.423													G	68940246	A	G	68940246	2	3	15	1	0	0	0	0	0	0	0	1	4014	175	7	3		3	CTNNA3	10	68940246	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	13218621	68940246	66594501	416	11857											
ADAMTS14	140766	broad.mit.edu	37	chr10	72489928	72489928	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcgctgggcacactcccAgcagcgccaggaccccagcc	12	18	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:72489928A>G	uc001jrh.2	+	6	1025	c.1025A>G	c.(1024-1026)CAG>CGG	p.Q342R	ADAMTS14_uc001jrg.2_Missense_Mutation_p.Q342R	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	342	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						GCACACTCCCAGCAGCGCCAG	0.647													G	72489928	A	G	72489928	3	3	15	1	0	0	0	0	1	0	0	0	259	188	7	3	1047	3	ADAMTS14	10	72489928	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	3549682	72489928	63044819	417	11858											
TTC18	118491	broad.mit.edu	37	chr10	75113397	75113397	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgctagtgaagttgtattttGcacttccttctggagaaaca	9	7	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:75113397G>C	uc009xrc.2	-	3	288	c.167C>G	c.(166-168)GCA>GGA	p.A56G	TTC18_uc001jty.2_Missense_Mutation_p.A56G|TTC18_uc009xrd.1_5'UTR	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	56							binding			ovary(2)|central_nervous_system(1)	3	Prostate(51;0.0119)					GTTGTATTTTGCACTTCCTTC	0.408													C	75113397	G	C	75113397	3	2	15	1	0	0	0	0	1	0	0	0	16682	1319	46	5	3302	5	TTC18	10	75113397	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	2623469	75113397	60421350	418	11859											
PTEN	5728	broad.mit.edu	37	chr10	89624305	89624305	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gattcgacttagacttgaccTgtatccatttctgcggctgc	9	11	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:89624305T>G	uc001kfb.2	+	2	1110	c.79T>G	c.(79-81)TAT>GAT	p.Y27D	KILLIN_uc009xti.2_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	27	Phosphatase tensin-type.		Y -> S (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(13)|p.0?(12)|p.Y27fs*1(3)|p.Y27C(2)|p.Y27_N212>Y(2)|p.Y27S(1)|p.Y27fs*16(1)|p.Y27N(1)|p.Y27*(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGACTTGACCTGTATCCATTT	0.463		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89624305	T	G	89624305	3	3	15	1	0	0	0	0	1	0	0	0	12738	1594	55	5	81	5	PTEN	10	89624305	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	14510908	89624305	45910442	419	11860											
DNMBP	23268	broad.mit.edu	37	chr10	101731839	101731839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttcttctgatacgctagGgcagaagtcaaaaatggctc	10	9	3	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:101731839G>A	uc001kqj.2	-	2	135	c.43C>T	c.(43-45)CCT>TCT	p.P15S		NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	15	SH3 1.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GATACGCTAGGGCAGAAGTCA	0.423													A	101731839	G	A	101731839	3	1	15	1	0	0	0	0	1	0	0	0	4674	1232	43	4	4754	4	DNMBP	10	101731839	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	12107534	101731839	33802908	420	11861											
SCD	6319	broad.mit.edu	37	chr10	102120550	102120550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actactctgccagtgagtacCgctggcacatcaacttcacc	7	15	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:102120550C>T	uc001kqy.2	+	6	1430	c.940C>T	c.(940-942)CGC>TGC	p.R314C		NM_005063	NP_005054	O00767	ACOD_HUMAN	stearoyl-CoA desaturase 1	314	Cytoplasmic (Potential).				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity				0		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		CAGTGAGTACCGCTGGCACAT	0.527													T	102120550	C	T	102120550	3	4	15	1	0	0	0	0	1	0	0	0	13886	652	23	1	962	1	SCD	10	102120550	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	388711	102120550	33414197	421	11862											
SFXN2	118980	broad.mit.edu	37	chr10	104489523	104489523	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtgccctttgccgctgTggctgcggctaactgtgtca	14	12	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:104489523T>C	uc001kwb.2	+	6	717	c.551T>C	c.(550-552)GTG>GCG	p.V184A	SFXN2_uc001kwc.2_RNA|SFXN2_uc001kwd.2_Intron	NM_178858	NP_849189	Q96NB2	SFXN2_HUMAN	sideroflexin 2	184	Helical; (Potential).			QMALSYFTATTTAVATAVGMNMLTKKAPPLVGRWVPFAAVA AANCVNIPMMRQQELIKGI -> KRRPWWAAGCPLPLWLRL TVSISP (in Ref. 2).	iron ion homeostasis	integral to membrane	cation transmembrane transporter activity				0		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TTTGCCGCTGTGGCTGCGGCT	0.557											OREG0020485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	104489523	T	C	104489523	3	2	15	1	0	0	0	0	1	0	0	0	14195	1696	59	3	569	3	SFXN2	10	104489523	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	2368973	104489523	31045224	422	11863											
PDCD11	22984	broad.mit.edu	37	chr10	105174906	105174906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggggatgaggtcaagtgcCgggtgagcctcctgaagggt	18	8	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:105174906C>T	uc001kwy.1	+	12	1603	c.1516C>T	c.(1516-1518)CGG>TGG	p.R506W		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	506	S1 motif 5.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGTCAAGTGCCGGGTGAGCCT	0.527													T	105174906	C	T	105174906	3	4	15	1	0	0	0	0	1	0	0	0	11617	643	23	1	1558	1	PDCD11	10	105174906	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	685383	105174906	30359841	423	11864											
COL17A1	1308	broad.mit.edu	37	chr10	105823514	105823514	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgacactgacctgaggaggAtgtgctgagtccagggtgca	16	8	0	4			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:105823514A>G	uc001kxr.2	-	11	998	c.829T>C	c.(829-831)TCC>CCC	p.S277P	COL17A1_uc010qqv.1_Missense_Mutation_p.S261P|COL17A1_uc009xxp.1_Missense_Mutation_p.S277P	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	277	Cytoplasmic (Potential).|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTGAGGAGGATGTGCTGAGT	0.522													G	105823514	A	G	105823514	3	3	15	1	0	0	0	0	1	0	0	0	3674	333	12	3	3848	3	COL17A1	10	105823514	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	648608	105823514	29711233	424	11865											
SORCS1	114815	broad.mit.edu	37	chr10	108536340	108536340	+	Frame_Shift_Del	DEL	A	A	-													cagtcttcttgtttggggtgAaaaagcaagctttgaatgta							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:108536339_108536339GA>G	uc001kyl.3	-	3	1020	c.838_838TC>C	c.(838-840)cacfs	p.H280fs	SORCS1_uc021pxw.1_Frame_Shift_Del_p.H280fs|SORCS1_uc009xxs.3_Frame_Shift_Del_p.H280fs|SORCS1_uc001kym.3_Frame_Shift_Del_p.H280fs|SORCS1_uc001kyn.2_Frame_Shift_Del_p.H280fs|SORCS1_uc001kyo.3_Frame_Shift_Del_p.H280fs	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	280						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGTTTGGGGTGAAAAAGCAAG	0.438													-	108536340	A	-	108536340	7	5	15	1	0	1	0	1	0	0	0	0	14930	243	9	0	2995	0	SORCS1	10	108536340	Frame_Shift_Del	DEL	A	TCGA-BR-4280-01A-01D-1126-08	2712826	108536340	26998407	425	11866											
TCF7L2	6934	broad.mit.edu	37	chr10	114925501	114925501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgaagcccgaccccctgGcccacctgtccatgatgcct	8	20	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:114925501G>A	uc001lae.3	+	14	2086	c.1579G>A	c.(1579-1581)GCC>ACC	p.A527T	TCF7L2_uc001lac.3_Missense_Mutation_p.A521T|TCF7L2_uc010qrk.1_3'UTR|TCF7L2_uc010qrl.1_Missense_Mutation_p.A504T|TCF7L2_uc010qrm.1_3'UTR|TCF7L2_uc010qrn.1_3'UTR|TCF7L2_uc001lad.3_3'UTR|TCF7L2_uc001lag.3_3'UTR|TCF7L2_uc001laf.3_Missense_Mutation_p.A504T|TCF7L2_uc010qro.1_3'UTR|TCF7L2_uc001lah.2_3'UTR|TCF7L2_uc010qrp.1_3'UTR|TCF7L2_uc010qrq.1_3'UTR|TCF7L2_uc010qrr.1_Missense_Mutation_p.A459T|TCF7L2_uc010qrs.1_Missense_Mutation_p.A415T|TCF7L2_uc010qrt.1_Missense_Mutation_p.A415T|TCF7L2_uc010qru.1_3'UTR|TCF7L2_uc010qrv.1_3'UTR|TCF7L2_uc010qrw.1_3'UTR|TCF7L2_uc010qrx.1_3'UTR	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	544					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CGACCCCCTGGCCCACCTGTC	0.706													A	114925501	G	A	114925501	3	1	15	1	0	0	0	0	1	0	0	0	15695	1203	42	2	1910	2	TCF7L2	10	114925501	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	6389161	114925501	20609246	426	11867											
GFRA1	2674	broad.mit.edu	37	chr10	118030461	118030461	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggcgctgcggcactcatcCttggcctccaggccggatgc	13	15	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:118030461C>A	uc001lcj.2	-	3	905	c.207G>T	c.(205-207)AAG>AAT	p.K69N	GFRA1_uc001lci.2_Missense_Mutation_p.K69N|GFRA1_uc009xyr.2_Missense_Mutation_p.K69N	NM_005264	NP_005255	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1 isoform a	69	1.				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			ovary(1)|pancreas(1)	2		Lung NSC(174;0.21)		all cancers(201;0.0337)		GGCACTCATCCTTGGCCTCCA	0.612													A	118030461	C	A	118030461	3	1	15	1	0	0	0	0	1	0	0	0	6347	680	24	5	1226	5	GFRA1	10	118030461	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	3104960	118030461	17504286	427	11868											
PRLHR	2834	broad.mit.edu	37	chr10	120353797	120353797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactcatggcgagccagtgGcagagcagctgcaccagccc	13	14	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:120353797G>A	uc001ldp.1	-	2	1099	c.960C>T	c.(958-960)TGC>TGT	p.C320C		NM_004248	NP_004239	P49683	PRLHR_HUMAN	G protein-coupled receptor 10	320	Helical; Name=7; (Potential).				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity				0		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		CGAGCCAGTGGCAGAGCAGCT	0.647													A	120353797	G	A	120353797	2	1	15	1	0	0	0	0	0	0	0	1	12530	1195	42	2		2	PRLHR	10	120353797	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	2323336	120353797	15180950	428	11869											
SFXN4	119559	broad.mit.edu	37	chr10	120925115	120925115	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggacggcgtctctgcgtccTaggagccgcccaggttgcgt	16	13	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:120925115T>G	uc001leb.2	-	1	90	c.45A>C	c.(43-45)CTA>CTC	p.L15L	SFXN4_uc001ldz.2_5'Flank|SFXN4_uc001lea.2_RNA	NM_213649	NP_998814	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	15					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			ovary(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		CTCTGCGTCCTAGGAGCCGCC	0.532													G	120925115	T	G	120925115	2	3	15	1	0	0	0	0	0	0	0	1	14197	1509	53	5		5	SFXN4	10	120925115	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	571318	120925115	14609632	429	11870											
TACC2	10579	broad.mit.edu	37	chr10	123844834	123844834	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcaccaacgagacagaAgttgcctgcactaggggaga	13	10	1	3	rs140606887	byFrequency	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:123844834A>C	uc001lfv.2	+	4	3179	c.2819A>C	c.(2818-2820)AAG>ACG	p.K940T	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.K940T|TACC2_uc010qtv.1_Missense_Mutation_p.K940T	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	940						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACGAGACAGAAGTTGCCTGCA	0.522													C	123844834	A	C	123844834	3	2	15	1	0	0	0	0	1	0	0	0	15499	72	3	5	2829	5	TACC2	10	123844834	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	2919719	123844834	11689913	430	11871											
TACC2	10579	broad.mit.edu	37	chr10	123903103	123903103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcatctccccagctgctGcccatgcgggtcttcctccc	8	20	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:123903103G>A	uc001lfv.2	+	7	6076	c.5716G>A	c.(5716-5718)GCC>ACC	p.A1906T	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Intron|TACC2_uc010qtv.1_Intron|TACC2_uc001lfx.2_Intron|TACC2_uc001lfy.2_Intron	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1906						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCCAGCTGCTGCCCATGCGGG	0.572											OREG0020589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	123903103	G	A	123903103	3	1	15	1	0	0	0	0	1	0	0	0	15499	1319	46	2	5738	2	TACC2	10	123903103	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	58269	123903103	11631644	431	11872											
C10orf137	26098	broad.mit.edu	37	chr10	127434314	127434314	+	Frame_Shift_Del	DEL	A	A	-													ctgccgagcaacagttgtggAaaaaaagcttttcttgtttt							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:127434313_127434313GA>G	uc001liq.1	+	18	2921	c.2628_2628GA>G	c.(2626-2628)tggfs	p.W876fs	C10orf137_uc001lin.3_Frame_Shift_Del_p.W842fs|C10orf137_uc001lip.1_Frame_Shift_Del_p.W580fs|C10orf137_uc001lio.1_Frame_Shift_Del_p.W842fs|C10orf137_uc001lis.1_Frame_Shift_Del_p.W202fs	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	876					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	p.W842*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AACAGTTGTGGAAAAAAAGCT	0.408													-	127434314	A	-	127434314	7	5	15	1	0	1	0	1	0	0	0	0	1594	247	9	0	2597	0	C10orf137	10	127434314	Frame_Shift_Del	DEL	A	TCGA-BR-4280-01A-01D-1126-08	3531211	127434314	8100433	432	11873											
DOCK1	1793	broad.mit.edu	37	chr10	129172450	129172450	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacgacgagaacaaagaaaAccgcatgagctgcaccgtca	10	12	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:129172450A>C	uc001ljt.2	+	35	3648	c.3584A>C	c.(3583-3585)AAC>ACC	p.N1195T	DOCK1_uc010qun.1_Missense_Mutation_p.N1216T|DOCK1_uc009yaq.2_Missense_Mutation_p.N190T	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1195	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AACAAAGAAAACCGCATGAGC	0.453													C	129172450	A	C	129172450	3	2	15	1	0	0	0	0	1	0	0	0	4684	43	2	5	3722	5	DOCK1	10	129172450	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1738136	129172450	6362297	433	11874											
MKI67	4288	broad.mit.edu	37	chr10	129905499	129905499	+	Silent	SNP	G	G	C													ttgggtgtgtgcatggctttGcctgctgatggtgttcgttt							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:129905499G>C	uc001lke.2	-	13	4800	c.4605C>G	c.(4603-4605)GGC>GGG	p.G1535G	MKI67_uc001lkf.2_Silent_p.G1175G|MKI67_uc009yav.1_Silent_p.G1110G|MKI67_uc009yaw.1_Silent_p.G685G	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1535	5.|16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCATGGCTTTGCCTGCTGATG	0.473													C	129905499	G	C	129905499	2	2	15	1	0	0	0	0	0	0	0	1	9598	1306	46	5		5	MKI67	10	129905499	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	733049	129905499	5629248	434	11875	26	2									
MKI67	4288	broad.mit.edu	37	chr10	129905503	129905503	+	Missense_Mutation	SNP	G	G	A													gtgtgtgcatggctttgcctGctgatggtgttcgtttcctg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:129905503G>A	uc001lke.2	-	13	4796	c.4601C>T	c.(4600-4602)GCA>GTA	p.A1534V	MKI67_uc001lkf.2_Missense_Mutation_p.A1174V|MKI67_uc009yav.1_Missense_Mutation_p.A1109V|MKI67_uc009yaw.1_Missense_Mutation_p.A684V	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1534	5.|16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGCTTTGCCTGCTGATGGTGT	0.488													A	129905503	G	A	129905503	3	1	15	1	0	0	0	0	1	0	0	0	9598	1319	46	2	5181	2	MKI67	10	129905503	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	4	129905503	5629244	435	11876	26	2									
DPYSL4	10570	broad.mit.edu	37	chr10	134014458	134014458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccaacggcattgaggagCgcatgtcgatggtctgggag	16	9	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:134014458C>T	uc009ybb.2	+	10	1235	c.1081C>T	c.(1081-1083)CGC>TGC	p.R361C		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	361					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CATTGAGGAGCGCATGTCGAT	0.647													T	134014458	C	T	134014458	3	4	15	1	0	0	0	0	1	0	0	0	4749	768	27	1	1119	1	DPYSL4	10	134014458	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	4108955	134014458	1520289	436	11877											
LRRC27	80313	broad.mit.edu	37	chr10	134188696	134188696	+	Frame_Shift_Del	DEL	T	T	-													cagcacagcctcaaaatacaTtttttaacacaaaatatgga							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr10:134188696delT	uc010quw.1	+	11	1738	c.1543delT	c.(1543-1545)TTTfs	p.F515fs	LRRC27_uc001llg.2_RNA|LRRC27_uc001lli.2_Frame_Shift_Del_p.F515fs|LRRC27_uc001llj.2_Frame_Shift_Del_p.F453fs	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27 isoform a	515										ovary(1)	1		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TCAAAATACATTTTTTAACAC	0.493													-	134188696	T	-	134188696	7	5	15	1	0	1	0	1	0	0	0	0	8981	1493	52	0	1763	0	LRRC27	10	134188696	Frame_Shift_Del	DEL	T	TCGA-BR-4280-01A-01D-1126-08	174238	134188696	1346051	437	11878											
TRPM5	29850	broad.mit.edu	37	chr11	2438983	2438983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgccttcaggatgaccGtgtccagctcctcggagccc	11	17	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:2438983G>A	uc001lwm.3	-	7	992	c.983C>T	c.(982-984)ACG>ATG	p.T328M	TRPM5_uc010qxl.1_Missense_Mutation_p.T328M|TRPM5_uc009ydn.2_Missense_Mutation_p.T330M	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	328	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CAGGATGACCGTGTCCAGCTC	0.632													A	2438983	G	A	2438983	3	1	15	1	0	0	0	0	1	0	0	0	16586	1145	40	1	2586	1	TRPM5	11	2438983	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08		2438983	132567533	438	11879											
ART1	417	broad.mit.edu	37	chr11	3681478	3681478	+	Frame_Shift_Del	DEL	C	C	-													ggagaggaagaggtgctgatCcccccctttgagaccttcca							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:3681478delC	uc001lye.1	+	3	830	c.729delC	c.(727-729)ATCfs	p.I243fs	ART1_uc009yeb.1_Frame_Shift_Del_p.I243fs	NM_004314	NP_004305	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1 precursor	243					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	AGGTGCTGATCCCCCCCTTTG	0.607													-	3681478	C	-	3681478	7	5	15	1	0	1	0	1	0	0	0	0	997	845	30	0	735	0	ART1	11	3681478	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	1242495	3681478	131325038	439	11880											
UBQLN3	50613	broad.mit.edu	37	chr11	5528836	5528836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcctacgactgtctcagCttctccacagcagcatccac	7	17	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:5528836C>T	uc001may.1	-	2	2039	c.1953G>A	c.(1951-1953)AAG>AAA	p.K651K	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	651	UBA.									ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGTCTCAGCTTCTCCACAG	0.507													T	5528836	C	T	5528836	2	4	15	1	0	0	0	0	0	0	0	1	16895	796	28	2		2	UBQLN3	11	5528836	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1847358	5528836	129477680	440	11881											
TUB	7275	broad.mit.edu	37	chr11	8118863	8118863	+	Frame_Shift_Del	DEL	C	C	-													ggagtttgcactgaggccggCcccccagggtatcaccatca							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:8118863delC	uc001mga.2	+	7	925	c.776delC	c.(775-777)GCCfs	p.A259fs	TUB_uc010rbk.1_Frame_Shift_Del_p.A265fs|TUB_uc001mfy.2_Frame_Shift_Del_p.A314fs	NM_177972	NP_813977	P50607	TUB_HUMAN	tubby isoform b	259					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				ovary(1)	1		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CTGAGGCCGGCCCCCCAGGGT	0.597													-	8118863	C	-	8118863	7	5	15	1	0	1	0	1	0	0	0	0	16739	739	26	0	1013	0	TUB	11	8118863	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	2590027	8118863	126887653	441	11882											
CTR9	9646	broad.mit.edu	37	chr11	10785739	10785739	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacaaatcttagaacagacTgatatacaggtattttagta	7	6	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:10785739T>C	uc001mja.2	+	10	1424	c.1275T>C	c.(1273-1275)ACT>ACC	p.T425T		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	425	TPR 8.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TAGAACAGACTGATATACAGG	0.368													C	10785739	T	C	10785739	2	2	15	1	0	0	0	0	0	0	0	1	4024	1567	55	3		3	CTR9	11	10785739	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	2666876	10785739	124220777	442	11883											
MICALCL	84953	broad.mit.edu	37	chr11	12315225	12315225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaattcccctgtatctgCctcatcacccaaagccagag	8	14	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:12315225C>T	uc001mkg.1	+	3	538	c.247C>T	c.(247-249)CCT>TCT	p.P83S		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	83	Interaction with MAPK1 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)		CCTGTATCTGCCTCATCACCC	0.587													T	12315225	C	T	12315225	3	4	15	1	0	0	0	0	1	0	0	0	9572	739	26	2	253	2	MICALCL	11	12315225	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1529486	12315225	122691291	443	11884											
SOX6	55553	broad.mit.edu	37	chr11	16119182	16119184	+	In_Frame_Del	DEL	AGC	AGC	-													tgtaaagggctgagtccagaAgcagcagcagctgccattgt					rs150961105		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:16119182_16119184delAGC	uc001mme.2	-	8	1021_1023	c.988_990delGCT	c.(988-990)GCTdel	p.A330del	SOX6_uc001mmd.2_In_Frame_Del_p.A320del|SOX6_uc001mmf.2_In_Frame_Del_p.A317del|SOX6_uc001mmg.2_In_Frame_Del_p.A317del	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	317	Poly-Ala.				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						TGAGTCCAGAAGCAGCAGCAGCT	0.458													-	16119184	AGC	-	16119182	7	5	15	1	0	1	0	1	0	0	0	0	14955	59	3	0	1613	0	SOX6	11	16119182	In_Frame_Del	DEL	AGC	TCGA-BR-4280-01A-01D-1126-08	3803957	16119182	118887334	444	11885											
KCNA4	3739	broad.mit.edu	37	chr11	30032940	30032940	+	Frame_Shift_Del	DEL	C	C	-													gctgctgctgaccattgccaCccccctgttgctgggccagg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:30032939_30032939AC>A	uc021qfi.1	-	0	1287	c.1287_1287GT>T	c.(1285-1287)ggtfs	p.G429fs	KCNA4_uc001msk.3_Frame_Shift_Del_p.G429fs	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	429						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.G429fs*53(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GACCATTGCCACCCCCCTGTT	0.498													-	30032940	C	-	30032940	7	5	15	1	0	1	0	1	0	0	0	0	8005	507	18	0	679	0	KCNA4	11	30032940	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	13913758	30032940	104973576	445	11886											
PAMR1	25891	broad.mit.edu	37	chr11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-													catagaagtcatccaaggtaCccccccatgagccatttcgg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:35513669_35513669AC>A	uc001mwf.3	-	2	346	c.303_303GT>T	c.(301-303)ggtfs	p.G101fs	PAMR1_uc001mwg.3_Frame_Shift_Del_p.G101fs|PAMR1_uc010rew.2_Frame_Shift_Del_p.G101fs|PAMR1_uc010rex.2_Frame_Shift_Del_p.G61fs	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATG	0.522													-	35513670	C	-	35513670	7	5	15	1	0	1	0	1	0	0	0	0	11413	507	18	0	1951	0	PAMR1	11	35513670	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	5480730	35513670	99492846	446	11887											
CHST1	8534	broad.mit.edu	37	chr11	45671618	45671618	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacgggggccgcatgaggcCggtggacacggagttggaga	19	10	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:45671618C>A	uc001mys.1	-	4	1527	c.856G>T	c.(856-858)GGC>TGC	p.G286C		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	286	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CGCATGAGGCCGGTGGACACG	0.622													A	45671618	C	A	45671618	3	1	15	1	0	0	0	0	1	0	0	0	3397	652	23	5	383	5	CHST1	11	45671618	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	10157948	45671618	89334898	447	11888											
HARBI1	283254	broad.mit.edu	37	chr11	46625165	46625165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctcatactcctcttccGggggctgttccatgggtcct	11	13	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:46625165G>A	uc001ncy.2	-	3	1213	c.965C>T	c.(964-966)CCG>CTG	p.P322L		NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	322						cytoplasm|nucleus	metal ion binding|nuclease activity				0						CTCCTCTTCCGGGGGCTGTTC	0.512													A	46625165	G	A	46625165	3	1	15	1	0	0	0	0	1	0	0	0	6958	1116	39	1	88	1	HARBI1	11	46625165	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	953547	46625165	88381351	448	11889											
LRP4	4038	broad.mit.edu	37	chr11	46910972	46910972	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccacttactctgggcacaGgcgtggctgctgatcttgcg	12	13	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:46910972G>T	uc001ndn.3	-	16	2351	c.2205C>A	c.(2203-2205)GCC>GCA	p.A735A		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	735	Extracellular (Potential).|EGF-like 3.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		TCTGGGCACAGGCGTGGCTGC	0.607											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	46910972	G	T	46910972	2	4	15	1	0	0	0	0	0	0	0	1	8959	987	35	5		5	LRP4	11	46910972	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	285807	46910972	88095544	449	11890											
OR4C16	219428	broad.mit.edu	37	chr11	55340531	55340531	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aattgatcacagatgacaaaAgataaatgaaggtttcaaat	7	4	2	5			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:55340531A>C	uc010rih.1	+	1	928	c.928A>C	c.(928-930)AGA>CGA	p.R310R		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	310	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)				AGATGACAAAAGATAAATGAA	0.333													C	55340531	A	C	55340531	2	2	15	1	0	0	0	0	0	0	0	1	11049	64	3	5		5	OR4C16	11	55340531	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	8429559	55340531	79665985	450	11891											
OR5D18	219438	broad.mit.edu	37	chr11	55587286	55587286	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaactgcatacccccatgTactttttcctcagccaactc	3	17	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:55587286T>C	uc010rin.1	+	1	181	c.181T>C	c.(181-183)TAC>CAC	p.Y61H		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	61	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				TACCCCCATGTACTTTTTCCT	0.433													C	55587286	T	C	55587286	3	2	15	1	0	0	0	0	1	0	0	0	11157	1638	57	3	183	3	OR5D18	11	55587286	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	246755	55587286	79419230	451	11892											
SLC43A1	8501	broad.mit.edu	37	chr11	57258808	57258808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggcacaacagctgcatgGccccgaagacggaggagtag	15	10	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:57258808G>A	uc001nkk.2	-	11	1200	c.1082C>T	c.(1081-1083)GCC>GTC	p.A361V	SLC43A1_uc001nkl.2_Missense_Mutation_p.A361V	NM_003627	NP_003618	O75387	LAT3_HUMAN	solute carrier family 43, member 1	361	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity				0						CAGCTGCATGGCCCCGAAGAC	0.612													A	57258808	G	A	57258808	3	1	15	1	0	0	0	0	1	0	0	0	14632	1203	42	2	617	2	SLC43A1	11	57258808	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1671522	57258808	77747708	452	11893											
ROM1	6094	broad.mit.edu	37	chr11	62382265	62382265	+	Frame_Shift_Del	DEL	C	C	-													caggccagcacctgaggaggCcccaccaggagaagcacctc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:62382265delC	uc001ntv.2	+	3	1551	c.1010delC	c.(1009-1011)GCCfs	p.A337fs	EML3_uc001ntt.1_5'Flank|EML3_uc001ntu.1_5'Flank|EML3_uc010rly.1_5'Flank	NM_000327	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	337	Cytoplasmic (Potential).				cell adhesion|visual perception	integral to plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						CCTGAGGAGGCCCCACCAGGA	0.582													-	62382265	C	-	62382265	7	5	15	1	0	1	0	1	0	0	0	0	13521	739	26	0	1020	0	ROM1	11	62382265	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	5123457	62382265	72624251	453	11894											
INTS5	80789	broad.mit.edu	37	chr11	62416571	62416571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaggggtccccactgcgGcctccagatccccctgccag	13	17	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:62416571G>A	uc001nud.2	-	2	1034	c.981C>T	c.(979-981)GGC>GGT	p.G327G	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	327					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						CCCCACTGCGGCCTCCAGATC	0.617													A	62416571	G	A	62416571	2	1	15	1	0	0	0	0	0	0	0	1	7781	1190	42	2		2	INTS5	11	62416571	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	34306	62416571	72589945	454	11895											
C11orf84	144097	broad.mit.edu	37	chr11	63585488	63585488	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctcgcacatcttggagcaGcaccctcacaccttggacct	8	17	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:63585488G>T	uc001nxt.2	+	2	575	c.339G>T	c.(337-339)CAG>CAT	p.Q113H		NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	hypothetical protein LOC144097	113											0						TCTTGGAGCAGCACCCTCACA	0.642													T	63585488	G	T	63585488	3	4	15	1	0	0	0	0	1	0	0	0	1667	962	34	5	345	5	C11orf84	11	63585488	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1168917	63585488	71421028	455	11896											
CDC42BPG	55561	broad.mit.edu	37	chr11	64606355	64606355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcacgtcaggcacgtccGgggggaactgcaggtggtcc	17	12	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:64606355G>A	uc001obs.3	-	8	896	c.896C>T	c.(895-897)CCG>CTG	p.P299L		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	299	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						AGGCACGTCCGGGGGGAACTG	0.672													A	64606355	G	A	64606355	3	1	15	1	0	0	0	0	1	0	0	0	3074	1116	39	1	3879	1	CDC42BPG	11	64606355	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1020867	64606355	70400161	456	11897											
PPP2R5B	5526	broad.mit.edu	37	chr11	64698015	64698015	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagttcctggttcgcgtccTgatccccctgcactctgtca	9	16	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:64698015T>G	uc001oby.2	+	8	1430	c.845T>G	c.(844-846)CTG>CGG	p.L282R	PPP2R5B_uc001obz.2_Missense_Mutation_p.L282R	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	282					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2						GTTCGCGTCCTGATCCCCCTG	0.612													G	64698015	T	G	64698015	3	3	15	1	0	0	0	0	1	0	0	0	12393	1580	55	5	871	5	PPP2R5B	11	64698015	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	91660	64698015	70308501	457	11898											
EHBP1L1	254102	broad.mit.edu	37	chr11	65349384	65349384	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggagtcagagctggggAggctgaagagagttcagcag	18	6	3	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:65349384A>G	uc001oeo.3	+	9	1506	c.1241A>G	c.(1240-1242)GAG>GGG	p.E414G	EHBP1L1_uc001oep.1_Missense_Mutation_p.E34G	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	414										central_nervous_system(1)	1						AGAGCTGGGGAGGCTGAAGAG	0.567													G	65349384	A	G	65349384	3	3	15	1	0	0	0	0	1	0	0	0	4976	304	11	3	1275	3	EHBP1L1	11	65349384	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	651369	65349384	69657132	458	11899											
PCNXL3	399909	broad.mit.edu	37	chr11	65386142	65386142	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcccggcctccagtctcCgatcgcagcgccgctacagt	11	17	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:65386142C>T	uc001oey.2	+	6	1309	c.1309C>T	c.(1309-1311)CGA>TGA	p.R437*		NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	437	Ser-rich.					integral to membrane					0						CTCCAGTCTCCGATCGCAGCG	0.647													T	65386142	C	T	65386142	4	4	15	1	0	0	0	0	0	1	0	0	11593	644	23	1	1331	1	PCNXL3	11	65386142	Nonsense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	36758	65386142	69620374	459	11900											
TBX10	347853	broad.mit.edu	37	chr11	67400514	67400514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagcgctcactgtccttgcGtgggtccacgaagaccacgt	11	13	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:67400514G>A	uc001omp.2	-	5	698	c.610C>T	c.(610-612)CGC>TGC	p.R204C		NM_005995	NP_005986	O75333	TBX10_HUMAN	T-box 10	204	T-box.				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						CTGTCCTTGCGTGGGTCCACG	0.567													A	67400514	G	A	67400514	3	1	15	1	0	0	0	0	1	0	0	0	15648	1145	40	1	563	1	TBX10	11	67400514	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	2014372	67400514	67606002	460	11901											
ALDH3B1	221	broad.mit.edu	37	chr11	67789015	67789015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcacctgacacctgtcacCctggagctggggggcaagaa	13	12	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:67789015C>T	uc010rpy.1	+	8	740	c.624C>T	c.(622-624)ACC>ACT	p.T208T	ALDH3B1_uc001omz.2_Silent_p.T208T|ALDH3B1_uc001ona.2_Silent_p.T171T|ALDH3B1_uc001onb.2_RNA	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3B1 isoform a	208					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase				0					NADH(DB00157)	CACCTGTCACCCTGGAGCTGG	0.632											OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	67789015	C	T	67789015	2	4	15	1	0	0	0	0	0	0	0	1	499	610	22	4		4	ALDH3B1	11	67789015	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	388501	67789015	67217501	461	11902											
NUMA1	4926	broad.mit.edu	37	chr11	71733444	71733444	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttggagctcatggtagagtGgtataagagcagcatggtca	14	5	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:71733444G>T	uc001orl.1	-	7	485	c.313C>A	c.(313-315)CAC>AAC	p.H105N	NUMA1_uc001ork.1_Missense_Mutation_p.H105N|NUMA1_uc001orm.1_Missense_Mutation_p.H105N|NUMA1_uc009ysx.1_Missense_Mutation_p.H105N|NUMA1_uc001oro.1_Missense_Mutation_p.H105N|NUMA1_uc009ysy.1_Missense_Mutation_p.H105N|NUMA1_uc001orp.2_Missense_Mutation_p.H105N|NUMA1_uc001orq.2_Missense_Mutation_p.H105N	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	105					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						ATGGTAGAGTGGTATAAGAGC	0.532			T	RARA	APL								T	71733444	G	T	71733444	3	4	15	1	0	0	0	0	1	0	0	0	10750	1348	47	5	6118	5	NUMA1	11	71733444	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	3944429	71733444	63273072	462	11903											
FOLR2	2350	broad.mit.edu	37	chr11	71932697	71932697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaccccaacgaggaagtggCgaggttctatgctgcagcca	12	12	1	0	rs140546240		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:71932697C>T	uc009ytd.2	+	5	828	c.659C>T	c.(658-660)GCG>GTG	p.A220V	FOLR2_uc009yte.2_Missense_Mutation_p.A220V|FOLR2_uc001ose.3_Missense_Mutation_p.A220V|FOLR2_uc009ytf.2_Missense_Mutation_p.A220V	NM_001113534	NP_001107006	P14207	FOLR2_HUMAN	folate receptor 2 precursor	220					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(2)|ovary(1)	3					Folic Acid(DB00158)	GAGGAAGTGGCGAGGTTCTAT	0.577													T	71932697	C	T	71932697	3	4	15	1	0	0	0	0	1	0	0	0	5982	768	27	1	673	1	FOLR2	11	71932697	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	199253	71932697	63073819	463	11904											
CLPB	81570	broad.mit.edu	37	chr11	72006671	72006671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcaatcaatggtcttccCttttccatctgtcagccggc	7	14	4	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:72006671C>T	uc001osj.2	-	13	1491	c.1441G>A	c.(1441-1443)GGG>AGG	p.G481R	CLPB_uc010rqx.1_Missense_Mutation_p.G436R|CLPB_uc010rqy.1_Missense_Mutation_p.G422R|CLPB_uc001osk.2_Missense_Mutation_p.G451R|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Missense_Mutation_p.G280R|CLPB_uc001osi.2_Missense_Mutation_p.G89R	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B	481					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1						ATGGTCTTCCCTTTTCCATCT	0.488													T	72006671	C	T	72006671	3	4	15	1	0	0	0	0	1	0	0	0	3551	681	24	4	702	4	CLPB	11	72006671	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	73974	72006671	62999845	464	11905											
MYO7A	4647	broad.mit.edu	37	chr11	76905421	76905421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgacctggctgagctggCctcccagcagtactttgtag	13	12	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:76905421C>T	uc001oyb.2	+	32	4447	c.4175C>T	c.(4174-4176)GCC>GTC	p.A1392V	MYO7A_uc010rsm.1_Missense_Mutation_p.A1381V|MYO7A_uc001oyc.2_Missense_Mutation_p.A1392V|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.A603V	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1392	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						GCTGAGCTGGCCTCCCAGCAG	0.637													T	76905421	C	T	76905421	3	4	15	1	0	0	0	0	1	0	0	0	10082	739	26	2	4331	2	MYO7A	11	76905421	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	4898750	76905421	58101095	465	11906											
ANKRD42	338699	broad.mit.edu	37	chr11	82951953	82951953	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgatttatgtctgagtgActtggataaaacagatgcca	11	5	1	4			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:82951953A>C	uc001ozz.1	+	9	1510	c.1088A>C	c.(1087-1089)GAC>GCC	p.D363A	ANKRD42_uc010rsv.1_Missense_Mutation_p.D391A|ANKRD42_uc001paa.2_Missense_Mutation_p.D391A|ANKRD42_uc001pab.1_Missense_Mutation_p.D390A	NM_182603	NP_872409	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	363										skin(1)	1						TGTCTGAGTGACTTGGATAAA	0.353													C	82951953	A	C	82951953	3	2	15	1	0	0	0	0	1	0	0	0	670	275	10	5	1122	5	ANKRD42	11	82951953	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	6046532	82951953	52054563	466	11907											
TYR	7299	broad.mit.edu	37	chr11	89028414	89028414	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaggggccgtcctcactgcCctgctggcagggcttgtgag	16	12	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:89028414C>A	uc001pcs.2	+	5	1552	c.1470C>A	c.(1468-1470)GCC>GCA	p.A490A		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	490	Helical; (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TCCTCACTGCCCTGCTGGCAG	0.532									Oculocutaneous_Albinism				A	89028414	C	A	89028414	2	1	15	1	0	0	0	0	0	0	0	1	16810	610	22	5		5	TYR	11	89028414	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	6076461	89028414	45978102	467	11908											
FAT3	120114	broad.mit.edu	37	chr11	92086551	92086551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtactttaaaattaatcctCggtcgggtctgattgttaca	8	7	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:92086551C>T	uc001pdj.3	+	1	1290	c.1273C>T	c.(1273-1275)CGG>TGG	p.R425W		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	425	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AATTAATCCTCGGTCGGGTCT	0.408										TCGA Ovarian(4;0.039)			T	92086551	C	T	92086551	3	4	15	1	0	0	0	0	1	0	0	0	5691	875	31	1	1275	1	FAT3	11	92086551	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	3058137	92086551	42919965	468	11909											
CNTN5	53942	broad.mit.edu	37	chr11	100211320	100211320	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcacttcacagtgagggcTtacaatggagctggatatgg	12	7	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:100211320T>G	uc001pga.2	+	22	3195	c.2856T>G	c.(2854-2856)GCT>GCG	p.A952A	CNTN5_uc001pgb.2_Silent_p.A878A|CNTN5_uc010ruk.1_Silent_p.A223A	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	952	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CAGTGAGGGCTTACAATGGAG	0.443													G	100211320	T	G	100211320	2	3	15	1	0	0	0	0	0	0	0	1	3644	1596	56	5		5	CNTN5	11	100211320	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	8124769	100211320	34795196	469	11910											
DYNC2H1	79659	broad.mit.edu	37	chr11	102987326	102987326	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataacttggacagtctatccTtactagaagttgttgacttg	8	7	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:102987326T>C	uc001pho.2	+	5	793	c.649T>C	c.(649-651)TTA>CTA	p.L217L	DYNC2H1_uc001phn.1_Silent_p.L217L|DYNC2H1_uc009yxe.1_Silent_p.L217L	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	217	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAGTCTATCCTTACTAGAAGT	0.338													C	102987326	T	C	102987326	2	2	15	1	0	0	0	0	0	0	0	1	4846	1606	56	3		3	DYNC2H1	11	102987326	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	2776006	102987326	32019190	470	11911											
KIAA1826	84437	broad.mit.edu	37	chr11	105880317	105880317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctttctctacctgtaagCgttccttttcaatctgcagc	6	12	4	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:105880317C>T	uc001piy.2	-	3	1156	c.983G>A	c.(982-984)CGC>CAC	p.R328H	KIAA1826_uc001piz.2_Missense_Mutation_p.R328H	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	hypothetical protein LOC84437	328	Potential.					nucleus				breast(1)	1		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)		TACCTGTAAGCGTTCCTTTTC	0.393													T	105880317	C	T	105880317	3	4	15	1	0	0	0	0	1	0	0	0	8260	768	27	1	58	1	KIAA1826	11	105880317	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2892991	105880317	29126199	471	11912											
KDELC2	143888	broad.mit.edu	37	chr11	108352801	108352801	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcaagcatggagtgggtgAtgtcatacgttggaaggaca	14	6	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:108352801A>C	uc001pkj.2	-	4	899	c.833T>G	c.(832-834)ATC>AGC	p.I278S	KDELC2_uc001pki.2_Missense_Mutation_p.I222S	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2 precursor	278						endoplasmic reticulum lumen				ovary(1)	1		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		GGAGTGGGTGATGTCATACGT	0.448													C	108352801	A	C	108352801	3	2	15	1	0	0	0	0	1	0	0	0	8118	333	12	5	710	5	KDELC2	11	108352801	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	2472484	108352801	26653715	472	11913											
TTC12	54970	broad.mit.edu	37	chr11	113238943	113238944	+	RNA	DEL	AG	AG	-													gcagtcatctccaatttggaAgagagtctgctgcacctgaa							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:113238943_113238944delAG	uc001pnw.2	+	22		c.2182_2183delAG				NM_017868		Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12								binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CCAATTTGGAAGAGAGTCTGCT	0.495													-	113238944	AG	-	113238943	6	5	15	0	1	1	0	1	0	0	0	0	16676	87	3	0		0	TTC12	11	113238943	RNA	DEL	AG	TCGA-BR-4280-01A-01D-1126-08	4886142	113238943	21767573	473	11914											
UBE4A	9354	broad.mit.edu	37	chr11	118244399	118244399	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggaggccaacatccatcAggtggaactgtttaccaggg	12	10	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:118244399A>G	uc001psw.2	+	8	1244	c.1115A>G	c.(1114-1116)CAG>CGG	p.Q372R	UBE4A_uc001psv.2_Missense_Mutation_p.Q379R	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	372					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AACATCCATCAGGTGGAACTG	0.463													G	118244399	A	G	118244399	3	3	15	1	0	0	0	0	1	0	0	0	16879	202	7	3	1162	3	UBE4A	11	118244399	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	5005456	118244399	16762117	474	11915											
BCL9L	283149	broad.mit.edu	37	chr11	118769560	118769560	+	Frame_Shift_Del	DEL	G	G	-													ggttcatgagatgcagattaGggggctgagccttggggggc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:118769560delG	uc001pug.2	-	8	5029	c.4064delC	c.(4063-4065)CCTfs	p.P1355fs	BCL9L_uc009zal.2_Frame_Shift_Del_p.P1350fs	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1355	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ATGCAGATTAGGGGGCTGAGC	0.622													-	118769560	G	-	118769560	7	5	15	1	0	1	0	1	0	0	0	0	1382	1000	35	0	439	0	BCL9L	11	118769560	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	525161	118769560	16236956	475	11916											
MCAM	4162	broad.mit.edu	37	chr11	119185613	119185613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcacaagaagatgcgctcGtcttggggggtgacttgagt	16	7	1	4			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:119185613G>A	uc001pwf.2	-	3	359	c.330C>T	c.(328-330)GAC>GAT	p.D110D		NM_006500	NP_006491	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	110	Extracellular (Potential).|Ig-like V-type 1.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				ovary(2)|breast(1)|central_nervous_system(1)	4		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		AGATGCGCTCGTCTTGGGGGG	0.657													A	119185613	G	A	119185613	2	1	15	1	0	0	0	0	0	0	0	1	9368	1136	40	1		1	MCAM	11	119185613	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	416053	119185613	15820903	476	11917											
CRTAM	56253	broad.mit.edu	37	chr11	122720827	122720827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgtggaggaaggccagaCgctcactctaaagtgtgtca	12	11	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:122720827C>T	uc001pyj.2	+	2	98	c.98C>T	c.(97-99)ACG>ATG	p.T33M		NM_019604	NP_062550	O95727	CRTAM_HUMAN	class-I MHC-restricted T cell associated	33	Ig-like V-type.|Extracellular (Potential).				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			ovary(1)	1		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GAAGGCCAGACGCTCACTCTA	0.527													T	122720827	C	T	122720827	3	4	15	1	0	0	0	0	1	0	0	0	3897	536	19	1	104	1	CRTAM	11	122720827	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	3535214	122720827	12285689	477	11918											
OR10G4	390264	broad.mit.edu	37	chr11	123887010	123887010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcagacctgtgcctcccaCtgtattgtggtcctttgctt	8	12	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:123887010C>T	uc010sac.1	+	1	729	c.729C>T	c.(727-729)CAC>CAT	p.H243H		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTGCCTCCCACTGTATTGTGG	0.522													T	123887010	C	T	123887010	2	4	15	1	0	0	0	0	0	0	0	1	10901	564	20	4		4	OR10G4	11	123887010	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1166183	123887010	11119506	478	11919											
NFRKB	4798	broad.mit.edu	37	chr11	129752496	129752497	+	Frame_Shift_Ins	INS	-	-	T													ttcctctttttccttaacctINStttttttaaggacagccaag					rs149369172		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr11:129752495_129752496C>CT	uc001qfg.3	-	7	1128_1129	c.1007_1008G>AG	c.(1006-1008)aagfs	p.K336fs	NFRKB_uc001qfi.3_Frame_Shift_Ins_p.K311fs|NFRKB_uc001qfh.3_Frame_Shift_Ins_p.K334fs|NFRKB_uc010sbw.1_Frame_Shift_Ins_p.K323fs	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	311					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TTTCCTTAACCTTTTTTTTAAG	0.441													T	129752497	-	T	129752496	7	5	15	1	0	1	1	0	0	0	0	0	10384	1609	56	0	3039	0	NFRKB	11	129752496	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	5865486	129752496	5254020	479	11920											
WNK1	65125	broad.mit.edu	37	chr12	992220	992220	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accccgaggagatagcaacaAttatggtacgtctgcatttg	10	9	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:992220A>G	uc001qio.3	+	15	3991	c.3484A>G	c.(3484-3486)ATT>GTT	p.I1162V	WNK1_uc001qip.3_Missense_Mutation_p.I915V|WNK1_uc001qir.3_Missense_Mutation_p.I335V	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1162					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GATAGCAACAATTATGGTACG	0.368													G	992220	A	G	992220	3	3	15	1	0	0	0	0	1	0	0	0	17374	101	4	3	5044	3	WNK1	12	992220	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08		992220	132859675	480	11921											
KCNA6	3742	broad.mit.edu	37	chr12	4920572	4920572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accattgccctgcctgtgccCgtcatcgtctccaacttcaa	6	17	3	0	rs140094246		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:4920572C>T	uc001qng.2	+	1	2231	c.1365C>T	c.(1363-1365)CCC>CCT	p.P455P		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	455	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						TGCCTGTGCCCGTCATCGTCT	0.617										HNSCC(72;0.22)			T	4920572	C	T	4920572	2	4	15	1	0	0	0	0	0	0	0	1	8007	639	23	1		1	KCNA6	12	4920572	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	3928352	4920572	128931323	481	11922											
NCAPD2	9918	broad.mit.edu	37	chr12	6631158	6631158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcccggaagattacagagGccattggcatcatcagcaag	10	11	3	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:6631158G>A	uc001qoo.2	+	15	1955	c.1909G>A	c.(1909-1911)GCC>ACC	p.A637T	NCAPD2_uc009zen.1_Missense_Mutation_p.A509T|NCAPD2_uc010sfd.1_Missense_Mutation_p.A592T	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	637					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						GATTACAGAGGCCATTGGCAT	0.458													A	6631158	G	A	6631158	3	1	15	1	0	0	0	0	1	0	0	0	10205	1203	42	2	1963	2	NCAPD2	12	6631158	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1710586	6631158	127220737	482	11923											
ATN1	1822	broad.mit.edu	37	chr12	7045189	7045189	+	Frame_Shift_Del	DEL	C	C	-													cctaatgggggtaagcagcaCcccccacccactactcccat							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:7045189delC	uc001qrw.1	+	5	996	c.759delC	c.(757-759)CACfs	p.H253fs	ATN1_uc001qrx.1_Frame_Shift_Del_p.H253fs|ATN1_uc001qry.1_Frame_Shift_Del_p.H252fs	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	253					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						GTAAGCAGCACCCCCCACCCA	0.617													-	7045189	C	-	7045189	7	5	15	1	0	1	0	1	0	0	0	0	1111	506	18	0	773	0	ATN1	12	7045189	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	414031	7045189	126806706	483	11924											
CLSTN3	9746	broad.mit.edu	37	chr12	7286179	7286179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgccaggtgagatctgCggcttccggctccatgggtc	13	13	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:7286179C>T	uc001qsr.2	+	3	476	c.198C>T	c.(196-198)TGC>TGT	p.C66C	CLSTN3_uc001qss.2_Silent_p.C78C	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	66	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						GTGAGATCTGCGGCTTCCGGC	0.642													T	7286179	C	T	7286179	2	4	15	1	0	0	0	0	0	0	0	1	3563	776	27	1		1	CLSTN3	12	7286179	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	240990	7286179	126565716	484	11925											
CD163L1	283316	broad.mit.edu	37	chr12	7531738	7531738	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctctctggagaccctgattGcagacccacattcaagttgc	9	13	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:7531738G>T	uc001qsy.2	-	9	2233	c.2207C>A	c.(2206-2208)GCA>GAA	p.A736E	CD163L1_uc010sge.1_Missense_Mutation_p.A746E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	736	SRCR 7.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						GACCCTGATTGCAGACCCACA	0.488													T	7531738	G	T	7531738	3	4	15	1	0	0	0	0	1	0	0	0	2968	1319	46	5	2198	5	CD163L1	12	7531738	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	245559	7531738	126320157	485	11926											
CLEC4D	338339	broad.mit.edu	37	chr12	8673741	8673741	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggcataagaatgaaccCgacaactctcagggagaaaa	9	9	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:8673741C>T	uc001qun.2	+	6	715	c.522C>T	c.(520-522)CCC>CCT	p.P174P		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	174	C-type lectin.|Extracellular (Potential).				innate immune response	integral to membrane	sugar binding				0	Lung SC(5;0.184)					AGAATGAACCCGACAACTCTC	0.338													T	8673741	C	T	8673741	2	4	15	1	0	0	0	0	0	0	0	1	3514	639	23	1		1	CLEC4D	12	8673741	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1142003	8673741	125178154	486	11927											
PZP	5858	broad.mit.edu	37	chr12	9321561	9321565	+	Frame_Shift_Del	DEL	ATCCC	ATCCC	-													tgagttagtgaacaccttcaAtcccatcccctggaaaaaaa							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:9321560_9321564AATCCC>A	uc001qvl.3	-	16	2037_2041	c.2008_2012GGGATT>T	c.(2008-2013)ggattgfs	p.G670fs	PZP_uc009zgl.3_Frame_Shift_Del_p.G539fs|PZP_uc010sgo.1_5'Flank|PZP_uc009zgm.1_Frame_Shift_Del_p.G2fs	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GAACACCTTCAATCCCATCCCCTGG	0.371													-	9321565	ATCCC	-	9321561	7	5	15	1	0	1	0	1	0	0	0	0	12869	98	4	0	2517	0	PZP	12	9321561	Frame_Shift_Del	DEL	ATCCC	TCGA-BR-4280-01A-01D-1126-08	647820	9321561	124530334	487	11928											
TAS2R7	50837	broad.mit.edu	37	chr12	10954759	10954759	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaacacagagagaaccacGcaccccagtagaatccagga	8	12	0	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:10954759G>A	uc001qyv.2	-	1	468	c.411C>T	c.(409-411)TGC>TGT	p.C137C		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	137	Helical; Name=4; (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			skin(1)	1						AGAGAACCACGCACCCCAGTA	0.413													A	10954759	G	A	10954759	2	1	15	1	0	0	0	0	0	0	0	1	15583	1079	38	1		1	TAS2R7	12	10954759	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1633198	10954759	122897136	488	11929											
PRB1	5542	broad.mit.edu	37	chr12	11506168	11506168	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggggaccttgaggattgTtgccttcttgttggggtggt	18	5	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:11506168T>C	uc001qzw.1	-	4	906	c.869A>G	c.(868-870)AAC>AGC	p.N290S	PRB1_uc001qzu.1_Missense_Mutation_p.N157S|PRB1_uc001qzv.1_Missense_Mutation_p.N137S	NM_005039	NP_005030	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1 isoform 1	351	15.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region					0			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGAGGATTGTTGCCTTCTTG	0.627													C	11506168	T	C	11506168	3	2	15	1	0	0	0	0	1	0	0	0	12442	1725	60	3	130	3	PRB1	12	11506168	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	551409	11506168	122345727	489	11930											
ATF7IP	55729	broad.mit.edu	37	chr12	14628902	14628902	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagagagtggagcttcacaaGgtacttcaatagtaattgta	10	5	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:14628902G>T	uc001rbw.2	+	11	3099	c.2941G>T	c.(2941-2943)GAC>TAC	p.D981Y	ATF7IP_uc001rbu.2_Missense_Mutation_p.G981C|ATF7IP_uc001rbv.1_Missense_Mutation_p.D980Y|ATF7IP_uc001rbx.2_Missense_Mutation_p.D980Y|ATF7IP_uc001rby.3_Missense_Mutation_p.D981Y|ATF7IP_uc001rca.2_Missense_Mutation_p.D981Y	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	981					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						AGCTTCACAAGGTACTTCAAT	0.363													T	14628902	G	T	14628902	3	4	15	1	0	0	0	0	1	0	0	0	1087	1014	35	5	2979	5	ATF7IP	12	14628902	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	3122734	14628902	119222993	490	11931											
SLCO1B3	28234	broad.mit.edu	37	chr12	21033817	21033817	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagtggcatctcatgtagatGtaccactttcttattgcaac	7	10	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:21033817G>C	uc001rek.2	+	11	1486	c.1360G>C	c.(1360-1362)GTA>CTA	p.V454L	SLCO1B3_uc001rel.2_Missense_Mutation_p.V454L|SLCO1B3_uc010sil.1_Missense_Mutation_p.V454L|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.V279L	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	454	Extracellular (Potential).|Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					TCATGTAGATGTACCACTTTC	0.289													C	21033817	G	C	21033817	3	2	15	1	0	0	0	0	1	0	0	0	14724	1377	48	5	1398	5	SLCO1B3	12	21033817	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	6404915	21033817	112818078	491	11932											
IAPP	3375	broad.mit.edu	37	chr12	21531329	21531330	+	Frame_Shift_Ins	INS	-	-	AG													aatgcagtagaggttttaaaINSgagagagccactgaattact							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:21531328_21531329A>AAG	uc001rev.3	+	2	390_391	c.238_239A>AAG	c.(238-240)aagfs	p.K80fs	SLCO1A2_uc010siq.2_Intron|SLCO1A2_uc001res.3_Intron	NM_000415	NP_000406	P10997	IAPP_HUMAN	Homo sapiens islet amyloid polypeptide (IAPP), mRNA.	80					apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity			lung(3)	3					Perindopril(DB00790)	AGAGGTTTTAAAGAGAGAGCCA	0.371													AG	21531330	-	AG	21531329	7	5	15	1	0	1	1	0	0	0	0	0	7472	72	3	0	245	0	IAPP	12	21531329	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	497512	21531329	112320566	492	11933											
ABCC9	10060	broad.mit.edu	37	chr12	22068696	22068696	+	Frame_Shift_Del	DEL	T	T	-													ttgccttcagatcaataggcTttttgtgagcagatataata							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:22068696delT	uc001rfi.1	-	5	742	c.722delA	c.(721-723)AAGfs	p.K241fs	ABCC9_uc001rfh.2_Frame_Shift_Del_p.K241fs|ABCC9_uc001rfj.1_Frame_Shift_Del_p.K241fs	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	241	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATCAATAGGCTTTTTGTGAGC	0.373													-	22068696	T	-	22068696	7	5	15	1	0	1	0	1	0	0	0	0	59	1609	56	0	4205	0	ABCC9	12	22068696	Frame_Shift_Del	DEL	T	TCGA-BR-4280-01A-01D-1126-08	537367	22068696	111783199	493	11934											
KRAS	3845	broad.mit.edu	37	chr12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggcactcttgcctacgCcaccagctccaactaccaca	5	18	2	0	rs112445441		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:25398281C>T	uc001rgp.1	-	2	219	c.38G>A	c.(37-39)GGC>GAC	p.G13D	KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	13	GTP.		G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).|G -> D (in a breast carcinoma cell line and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13D(2647)|p.G13C(182)|p.G13S(58)|p.G13R(41)|p.G13V(27)|p.G13A(24)|p.G13G(11)|p.G13E(4)|p.G12_G13insG(4)|p.G13N(3)|p.G13I(1)|p.G13_V14>DI(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(NCIH647_LUNG)|G13D(MDAMB231_BREAST)|G13D(NCIH747_LARGE_INTESTINE)|G13D(T84_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT15_LARGE_INTESTINE)|G13D(HCT116_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25398281	C	T	25398281	3	4	15	1	0	0	0	0	1	0	0	0	8438	739	26	2	668	2	KRAS	12	25398281	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	3329585	25398281	108453614	494	11935											
TMTC1	83857	broad.mit.edu	37	chr12	29669328	29669328	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatggctgacaagaggcgaTagcattcaaggcatccggtc	13	9	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:29669328T>C	uc001rjb.2	-	15	2411	c.1937A>G	c.(1936-1938)TAT>TGT	p.Y646C	TMTC1_uc001riz.2_Missense_Mutation_p.Y403C|TMTC1_uc001rja.2_Missense_Mutation_p.Y490C|TMTC1_uc001riy.2_Missense_Mutation_p.Y99C	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	754	TPR 8.					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CAAGAGGCGATAGCATTCAAG	0.453													C	29669328	T	C	29669328	3	2	15	1	0	0	0	0	1	0	0	0	16257	1406	49	3	403	3	TMTC1	12	29669328	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	4271047	29669328	104182567	495	11936											
CNTN1	1272	broad.mit.edu	37	chr12	41419075	41419075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtattttatagaagtcgggGcctgcaatagtgcagggtgt	14	5	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:41419075G>A	uc001rmm.1	+	21	2760	c.2647G>A	c.(2647-2649)GCC>ACC	p.A883T	CNTN1_uc001rmn.1_Missense_Mutation_p.A872T	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	883	Fibronectin type-III 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGAAGTCGGGGCCTGCAATAG	0.478													A	41419075	G	A	41419075	3	1	15	1	0	0	0	0	1	0	0	0	3640	1203	42	2	2725	2	CNTN1	12	41419075	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	11749747	41419075	92432820	496	11937											
HDAC7	51564	broad.mit.edu	37	chr12	48181527	48181527	+	Frame_Shift_Del	DEL	G	G	-													aggtactcaggatcccccatGggggggtccagacctccagc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:48181527delG	uc010slo.1	-	21	2616	c.2421delC	c.(2419-2421)CCCfs	p.P807fs	HDAC7_uc009zku.2_RNA|HDAC7_uc001rqe.2_Frame_Shift_Del_p.P241fs|HDAC7_uc001rqj.3_Frame_Shift_Del_p.P770fs|HDAC7_uc001rqk.3_Frame_Shift_Del_p.P790fs|HDAC7_uc010slp.1_Frame_Shift_Del_p.P51fs	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7 isoform a	768	Histone deacetylase.				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		GATCCCCCATGGGGGGGTCCA	0.622													-	48181527	G	-	48181527	7	5	15	1	0	1	0	1	0	0	0	0	7012	1335	47	0	578	0	HDAC7	12	48181527	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	6762452	48181527	85670368	497	11938											
SENP1	29843	broad.mit.edu	37	chr12	48440804	48440804	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagccattggtgtcaaacTctttccttttcttgtcaatg	7	11	4	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:48440804T>G	uc001rqx.2	-	16	2179	c.1733A>C	c.(1732-1734)GAG>GCG	p.E578A	SENP1_uc001rqw.2_Missense_Mutation_p.E578A|SENP1_uc001rqy.2_Missense_Mutation_p.E379A|SENP1_uc001rqz.2_Missense_Mutation_p.E379A|SENP1_uc009zkx.2_Missense_Mutation_p.E578A	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	sentrin/SUMO-specific protease 1	578	Protease.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			pancreas(2)|lung(1)	3		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				GGTGTCAAACTCTTTCCTTTT	0.423													G	48440804	T	G	48440804	3	3	15	1	0	0	0	0	1	0	0	0	14046	1551	54	5	210	5	SENP1	12	48440804	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	259277	48440804	85411091	498	11939											
MLL2	8085	broad.mit.edu	37	chr12	49427944	49427944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcacggccagcttttttgGcagtgcgctgcttggcacac	11	13	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:49427944G>A	uc001rta.3	-	38	10646	c.10646C>T	c.(10645-10647)GCC>GTC	p.A3549V		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	3549	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGCTTTTTTGGCAGTGCGCTG	0.552			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49427944	G	A	49427944	3	1	15	1	0	0	0	0	1	0	0	0	9621	1203	42	2	6035	2	MLL2	12	49427944	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	987140	49427944	84423951	499	11940											
GALNT6	11226	broad.mit.edu	37	chr12	51773084	51773084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgctacttactcaggtggtCgggtgtctggccccagggac	15	11	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:51773084C>T	uc001ryk.2	-	2	707	c.482G>A	c.(481-483)CGA>CAA	p.R161Q	GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.R161Q|GALNT6_uc010snh.1_Missense_Mutation_p.R161Q	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	161	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						CTCAGGTGGTCGGGTGTCTGG	0.562													T	51773084	C	T	51773084	3	4	15	1	0	0	0	0	1	0	0	0	6217	884	31	1	1426	1	GALNT6	12	51773084	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2345140	51773084	82078811	500	11941											
KRT6A	3853	broad.mit.edu	37	chr12	52885323	52885323	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacttgttcttgaagtcctcCaccaggtcctgcatgcctct	7	15	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:52885323C>A	uc001sam.2	-	2	947	c.738G>T	c.(736-738)GTG>GTT	p.V246V		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	246	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGAAGTCCTCCACCAGGTCCT	0.542													A	52885323	C	A	52885323	2	1	15	1	0	0	0	0	0	0	0	1	8480	581	21	5		5	KRT6A	12	52885323	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1112239	52885323	80966572	501	11942											
TENC1	23371	broad.mit.edu	37	chr12	53454525	53454525	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agactgagtcctggcgaggcCttgccccctgtttcccaggc	12	15	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:53454525C>A	uc001sbp.2	+	20	2970	c.2835C>A	c.(2833-2835)GCC>GCA	p.A945A	TENC1_uc001sbl.2_Silent_p.A821A|TENC1_uc001sbn.2_Silent_p.A955A|TENC1_uc001sbq.2_Silent_p.A343A|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Silent_p.A440A|TENC1_uc001sbs.2_5'Flank	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	945	Pro-rich.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2						CTGGCGAGGCCTTGCCCCCTG	0.677													A	53454525	C	A	53454525	2	1	15	1	0	0	0	0	0	0	0	1	15755	668	24	5		5	TENC1	12	53454525	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	569202	53454525	80397370	502	11943											
SLC39A5	283375	broad.mit.edu	37	chr12	56625312	56625312	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggcctctgactggacgggCtgcatccccagctgcagaca	13	14	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:56625312C>A	uc010sqj.1	+	4	511	c.254C>A	c.(253-255)GCT>GAT	p.A85D	SLC39A5_uc010sqi.1_Translation_Start_Site|SLC39A5_uc010sqk.1_Missense_Mutation_p.A85D	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	85	Extracellular (By similarity).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2						ACTGGACGGGCTGCATCCCCA	0.642													A	56625312	C	A	56625312	3	1	15	1	0	0	0	0	1	0	0	0	14621	797	28	5	256	5	SLC39A5	12	56625312	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	3170787	56625312	77226583	503	11944											
TIMELESS	8914	broad.mit.edu	37	chr12	56818681	56818681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagggaaccacggagtccAtgctgagctcagaattctag	11	10	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:56818681A>G	uc001slf.2	-	15	1901	c.1733T>C	c.(1732-1734)ATG>ACG	p.M578T		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	578					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						CACGGAGTCCATGCTGAGCTC	0.537													G	56818681	A	G	56818681	3	3	15	1	0	0	0	0	1	0	0	0	15901	217	8	3	1953	3	TIMELESS	12	56818681	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	193369	56818681	77033214	504	11945											
LRP1	4035	broad.mit.edu	37	chr12	57560723	57560723	+	Frame_Shift_Del	DEL	C	C	-													tgccccccagcccgcacctgCccccccaaccagttctcctg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:57560723delC	uc001snd.2	+	18	3274	c.2808delC	c.(2806-2808)TGCfs	p.C936fs	LRP1_uc009zph.1_5'Flank|LRP1_uc009zpi.1_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	936	LDL-receptor class A 5.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCGCACCTGCCCCCCCAACC	0.592													-	57560723	C	-	57560723	7	5	15	1	0	1	0	1	0	0	0	0	8951	747	26	0	2878	0	LRP1	12	57560723	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	742042	57560723	76291172	505	11946											
LRP1	4035	broad.mit.edu	37	chr12	57579622	57579622	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccccaatcgcatcttcttcAgcgacatccactttgggaac	6	16	3	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:57579622A>G	uc001snd.2	+	41	7238	c.6772A>G	c.(6772-6774)AGC>GGC	p.S2258G		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	2258	LDL-receptor class B 21.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CATCTTCTTCAGCGACATCCA	0.572													G	57579622	A	G	57579622	3	3	15	1	0	0	0	0	1	0	0	0	8951	188	7	3	6934	3	LRP1	12	57579622	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	18899	57579622	76272273	506	11947											
BEST3	144453	broad.mit.edu	37	chr12	70049234	70049234	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaagttctcacactggacTgtggggtcaggctctgtaaa	14	8	3	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:70049234T>G	uc001svg.2	-	10	1687	c.1460A>C	c.(1459-1461)CAG>CCG	p.Q487P	BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.Q274P|BEST3_uc010stm.1_Missense_Mutation_p.Q381P	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	487	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CACACTGGACTGTGGGGTCAG	0.567													G	70049234	T	G	70049234	3	3	15	1	0	0	0	0	1	0	0	0	1406	1580	55	5	550	5	BEST3	12	70049234	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	12469612	70049234	63802661	507	11948											
BEST3	144453	broad.mit.edu	37	chr12	70049362	70049363	+	Frame_Shift_Ins	INS	-	-	G													tccaggtgggtgaggccctgINSggggggtttcttgagggcac							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:70049361_70049362T>TG	uc001svg.3	-	9	1559_1560	c.1332_1333A>CA	c.(1330-1335)cccaggfs	p.P444fs	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Frame_Shift_Ins_p.P231fs|BEST3_uc010stm.2_Frame_Shift_Ins_p.P338fs	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	444						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594													G	70049363	-	G	70049362	7	5	15	1	0	1	1	0	0	0	0	0	1406	1335	47	0	678	0	BEST3	12	70049362	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	128	70049362	63802533	508	11949											
CNOT2	4848	broad.mit.edu	37	chr12	70704760	70704760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacgaaaacatgtactacaGccagtcttctatgtttccac	6	11	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:70704760G>A	uc001svv.2	+	3	713	c.134G>A	c.(133-135)AGC>AAC	p.S45N	CNOT2_uc009zro.2_Missense_Mutation_p.S45N|CNOT2_uc009zrp.2_Missense_Mutation_p.S25N|CNOT2_uc009zrq.2_Missense_Mutation_p.S45N	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	45					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity				0	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ATGTACTACAGCCAGTCTTCT	0.373													A	70704760	G	A	70704760	3	1	15	1	0	0	0	0	1	0	0	0	3619	971	34	2	140	2	CNOT2	12	70704760	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	655398	70704760	63147135	509	11950											
KCNC2	3747	broad.mit.edu	37	chr12	75601370	75601370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcctcctcgaagagcgGcccgcacacgtctgcggggc	13	17	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:75601370G>A	uc001sxg.1	-	2	938	c.394C>T	c.(394-396)CCG>TCG	p.P132S	KCNC2_uc009zry.2_Missense_Mutation_p.P132S|KCNC2_uc001sxe.2_Missense_Mutation_p.P132S|KCNC2_uc001sxf.2_Missense_Mutation_p.P132S|KCNC2_uc010stw.1_Missense_Mutation_p.P132S	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	132	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						TCGAAGAGCGGCCCGCACACG	0.677													A	75601370	G	A	75601370	3	1	15	1	0	0	0	0	1	0	0	0	8015	1203	42	2	1604	2	KCNC2	12	75601370	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	4896610	75601370	58250525	510	11951											
ALX1	8092	broad.mit.edu	37	chr12	85674056	85674056	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattatggagtttctgagcgAgaagtttgccctcaagagcc	12	8	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:85674056A>G	uc001tae.3	+	1	21	c.17A>G	c.(16-18)GAG>GGG	p.E6G		NM_006982	NP_008913	Q15699	ALX1_HUMAN	cartilage paired-class homeoprotein 1	6					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(134;0.134)		TTTCTGAGCGAGAAGTTTGCC	0.572													G	85674056	A	G	85674056	3	3	15	1	0	0	0	0	1	0	0	0	556	304	11	3	19	3	ALX1	12	85674056	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	10072686	85674056	48177839	511	11952											
CCDC41	51134	broad.mit.edu	37	chr12	94769791	94769791	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattagctgattgtttttcAgcctttcatacaaacaaaat	4	7	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:94769791A>G	uc001tdd.2	-	8	1390	c.804T>C	c.(802-804)GCT>GCC	p.A268A	CCDC41_uc001tde.2_Silent_p.A268A|CCDC41_uc009zsw.1_RNA|CCDC41_uc001tdf.2_Silent_p.A268A	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	NY-REN-58 antigen	260	Potential.										0						ATTGTTTTTCAGCCTTTCATA	0.239													G	94769791	A	G	94769791	2	3	15	1	0	0	0	0	0	0	0	1	2813	175	7	3		3	CCDC41	12	94769791	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	9095735	94769791	39082104	512	11953											
APAF1	317	broad.mit.edu	37	chr12	99121028	99121028	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgctacccatggaggCtgggtgactgacctttgctt	14	10	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:99121028C>A	uc001tfz.2	+	26	4111	c.3534C>A	c.(3532-3534)GGC>GGA	p.G1178G	APAF1_uc001tfy.2_Silent_p.G1167G|APAF1_uc001tga.2_Silent_p.G1124G|APAF1_uc001tgb.2_Silent_p.G1135G|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Silent_p.G502G	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	1178	WD 13.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	CCCATGGAGGCTGGGTGACTG	0.418													A	99121028	C	A	99121028	2	1	15	1	0	0	0	0	0	0	0	1	755	784	28	5		5	APAF1	12	99121028	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	4351237	99121028	34730867	513	11954											
GNPTAB	79158	broad.mit.edu	37	chr12	102154925	102154925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcaaacttaacggcagttCgtgaattctggtagccagtg	11	9	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:102154925C>T	uc001tit.2	-	15	3294	c.3115G>A	c.(3115-3117)GAA>AAA	p.E1039K		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	1039	EF-hand.				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2						AACGGCAGTTCGTGAATTCTG	0.318													T	102154925	C	T	102154925	3	4	15	1	0	0	0	0	1	0	0	0	6545	893	31	1	683	1	GNPTAB	12	102154925	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	3033897	102154925	31696970	514	11955											
STAB2	55576	broad.mit.edu	37	chr12	104123939	104123939	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaagatcatatccagtgatAtcatcagtactaatgggatt	7	7	3	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:104123939A>G	uc001tjw.2	+	49	5314	c.5128A>G	c.(5128-5130)ATC>GTC	p.I1710V	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1710	Extracellular (Potential).|FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						ATCCAGTGATATCATCAGTAC	0.343													G	104123939	A	G	104123939	3	3	15	1	0	0	0	0	1	0	0	0	15237	449	16	3	5322	3	STAB2	12	104123939	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1969014	104123939	29727956	515	11956											
BTBD11	121551	broad.mit.edu	37	chr12	108013807	108013807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggagtctttgcggatcGccttccagcagcaccgcagg	14	13	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:108013807G>A	uc001tmk.1	+	11	3018	c.2497G>A	c.(2497-2499)GCC>ACC	p.A833T	BTBD11_uc009zut.1_Missense_Mutation_p.A714T|BTBD11_uc001tmj.2_Missense_Mutation_p.A833T|BTBD11_uc001tml.1_Missense_Mutation_p.A370T	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	833	ANK 5.					integral to membrane	DNA binding			skin(2)|ovary(1)	3						TTTGCGGATCGCCTTCCAGCA	0.443													A	108013807	G	A	108013807	3	1	15	1	0	0	0	0	1	0	0	0	1539	1087	38	1	2644	1	BTBD11	12	108013807	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	3889868	108013807	25838088	516	11957											
MYO1H	283446	broad.mit.edu	37	chr12	109845646	109845646	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtctacgctagagatgcAatggcaaaggctgtttatgg	12	7	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:109845646A>G	uc010sxn.1	+	9	1035	c.1035A>G	c.(1033-1035)GCA>GCG	p.A345A		NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0						CTAGAGATGCAATGGCAAAGG	0.443													G	109845646	A	G	109845646	2	3	15	1	0	0	0	0	0	0	0	1	10075	117	5	3		3	MYO1H	12	109845646	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1831839	109845646	24006249	517	11958											
MVK	4598	broad.mit.edu	37	chr12	110023886	110023886	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttccaaggggagagaatgaTtcacgggaacccctccggag	13	11	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:110023886T>A	uc001toy.3	+	6	771	c.587T>A	c.(586-588)ATT>AAT	p.I196N	MVK_uc009zvk.2_Missense_Mutation_p.I196N|MVK_uc010sxr.1_Missense_Mutation_p.I144N|MVK_uc001toz.3_Missense_Mutation_p.I2N|MVK_uc001tpc.3_RNA	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	mevalonate kinase	196					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity				0						GAGAGAATGATTCACGGGAAC	0.453													A	110023886	T	A	110023886	3	1	15	1	0	0	0	0	1	0	0	0	9995	1493	52	5	605	5	MVK	12	110023886	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	178240	110023886	23828009	518	11959											
TCHP	84260	broad.mit.edu	37	chr12	110344435	110344435	+	Frame_Shift_Del	DEL	A	A	-													ttgggaaatgcagaaagaagAaaaaaaacaggtgtggtatg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:110344434_110344434GA>G	uc001tpn.3	+	4	667	c.514_514GA>G	c.(514-516)gaafs	p.E172fs	TCHP_uc001tpo.1_Non-coding_Transcript|TCHP_uc001tpp.3_Frame_Shift_Del_p.E172fs	NM_001143852	NP_115676	Q9BT92	TCHP_HUMAN	Homo sapiens trichoplein, keratin filament binding (TCHP), transcript variant 2, mRNA.	172	Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GCAGAAAGAAGAAAAAAAACA	0.478													-	110344435	A	-	110344435	7	5	15	1	0	1	0	1	0	0	0	0	15699	246	9	0	529	0	TCHP	12	110344435	Frame_Shift_Del	DEL	A	TCGA-BR-4280-01A-01D-1126-08	320549	110344435	23507460	519	11960											
ATXN2	6311	broad.mit.edu	37	chr12	111953992	111953992	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtttaggcatagtagagacAggagctggagaaccatgagc	14	7	0	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:111953992A>G	uc001tsj.2	-	10	1983	c.1821T>C	c.(1819-1821)CCT>CCC	p.P607P	ATXN2_uc001tsh.2_Silent_p.P342P|ATXN2_uc001tsi.2_Silent_p.P318P|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Silent_p.P342P	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	607	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						TAGTAGAGACAGGAGCTGGAG	0.517													G	111953992	A	G	111953992	2	3	15	1	0	0	0	0	0	0	0	1	1211	175	7	3		3	ATXN2	12	111953992	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1609557	111953992	21897903	520	11961											
DDX54	79039	broad.mit.edu	37	chr12	113617081	113617081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcaggctgtcttgccaCtgcccgtccgggccatggcc	14	15	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:113617081C>T	uc001tup.2	-	4	459	c.431G>A	c.(430-432)AGT>AAT	p.S144N	DDX54_uc001tuq.3_Missense_Mutation_p.S144N	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	144	ATP (By similarity).|Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						TGTCTTGCCACTGCCCGTCCG	0.647													T	113617081	C	T	113617081	3	4	15	1	0	0	0	0	1	0	0	0	4372	565	20	4	2285	4	DDX54	12	113617081	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1663089	113617081	20234814	521	11962											
KDM2B	84678	broad.mit.edu	37	chr12	121970842	121970842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcgccaaattgtgcagcGttggaggaatcagccaaaaa	11	9	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:121970842G>A	uc001uat.2	-	8	904	c.800C>T	c.(799-801)ACG>ATG	p.T267M	KDM2B_uc001uas.2_Missense_Mutation_p.T236M|KDM2B_uc001uau.2_Missense_Mutation_p.T150M|KDM2B_uc001uav.3_Intron	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	267	JmjC.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						ATTGTGCAGCGTTGGAGGAAT	0.557													A	121970842	G	A	121970842	3	1	15	1	0	0	0	0	1	0	0	0	8125	1145	40	1	3326	1	KDM2B	12	121970842	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	8353761	121970842	11881053	522	11963											
VPS33A	65082	broad.mit.edu	37	chr12	122750948	122750948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggccgtaggacagatgaGccgccatcttgctccaccac	10	16	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:122750948G>A	uc001ucd.2	-	1	121	c.8C>T	c.(7-9)GCT>GTT	p.A3V	VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Missense_Mutation_p.A3V	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33A	3					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			skin(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GGACAGATGAGCCGCCATCTT	0.647													A	122750948	G	A	122750948	3	1	15	1	0	0	0	0	1	0	0	0	17198	971	34	2	1834	2	VPS33A	12	122750948	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	780106	122750948	11100947	523	11964											
PITPNM2	57605	broad.mit.edu	37	chr12	123489928	123489928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagacggcttcgtgcttgaCgagctcagtggcctcctcac	12	14	2	2	rs138122520		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:123489928C>T	uc001uej.1	-	6	950	c.811G>A	c.(811-813)GTC>ATC	p.V271I	PITPNM2_uc001uek.1_Missense_Mutation_p.V271I|PITPNM2_uc009zxu.1_Missense_Mutation_p.V271I	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	271					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TCGTGCTTGACGAGCTCAGTG	0.622													T	123489928	C	T	123489928	3	4	15	1	0	0	0	0	1	0	0	0	11951	536	19	1	3318	1	PITPNM2	12	123489928	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	738980	123489928	10361967	524	11965											
DNAH10	196385	broad.mit.edu	37	chr12	124371810	124371810	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgttcacggatgcccAtgtggctgaggagggcttcc	13	11	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:124371810A>G	uc001uft.3	+	51	8616	c.8591A>G	c.(8590-8592)CAT>CGT	p.H2864R		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2864	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACGGATGCCCATGTGGCTGAG	0.547													G	124371810	A	G	124371810	3	3	15	1	0	0	0	0	1	0	0	0	4598	217	8	3	8793	3	DNAH10	12	124371810	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	881882	124371810	9480085	525	11966											
FZD10	11211	broad.mit.edu	37	chr12	130647844	130647844	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccggctcaagtgctccccGattatggagcagttcaactt	10	13	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr12:130647844G>A	uc001uii.2	+	1	813	c.357G>A	c.(355-357)CCG>CCA	p.P119P	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	119	FZ.|Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		AGTGCTCCCCGATTATGGAGC	0.627													A	130647844	G	A	130647844	2	1	15	1	0	0	0	0	0	0	0	1	6129	1045	37	1		1	FZD10	12	130647844	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	6276034	130647844	3204051	526	11967											
RNF6	6049	broad.mit.edu	37	chr13	26788241	26788242	+	Frame_Shift_Ins	INS	-	-	A													atcatcactttcatttagtaINSaaaaaaagtgagcaaggcga							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:26788240_26788241T>TA	uc001uqo.3	-	4	2123_2124	c.1778_1779A>TA	c.(1777-1779)ttafs	p.L593fs	RNF6_uc001uqn.1_Intron|RNF6_uc001uqp.3_Frame_Shift_Ins_p.L593fs|RNF6_uc001uqq.3_Frame_Shift_Ins_p.L593fs|RNF6_uc010tdk.2_Frame_Shift_Ins_p.L237fs	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA.	593					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	PML body|axon|cytoplasm	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TTTCATTTAGTAAAAAAAAGTG	0.406													A	26788242	-	A	26788241	7	5	15	1	0	1	1	0	0	0	0	0	13498	372	13	0	283	0	RNF6	13	26788241	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08		26788241	88381637	527	11968											
PDX1	3651	broad.mit.edu	37	chr13	28498612	28498612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggaggaggacaagaagcGcggcggcgggacagctgtcg	19	8	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:28498612G>A	uc001urt.2	+	2	734	c.626G>A	c.(625-627)CGC>CAC	p.R209H		NM_000209	NP_000200	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	209					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity				0	all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GACAAGAAGCGCGGCGGCGGG	0.592													A	28498612	G	A	28498612	3	1	15	1	0	0	0	0	1	0	0	0	11695	1087	38	1	632	1	PDX1	13	28498612	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1710371	28498612	86671266	528	11969											
FRY	10129	broad.mit.edu	37	chr13	32821607	32821607	+	Frame_Shift_Del	DEL	A	A	-													cttccaaggaattacctgggAaaaccctggacttccacttc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:32821607delA	uc001utx.2	+	48	7472	c.6976delA	c.(6976-6978)AAAfs	p.K2326fs	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATTACCTGGGAAAACCCTGGA	0.408													-	32821607	A	-	32821607	7	5	15	1	0	1	0	1	0	0	0	0	6063	247	9	0	7166	0	FRY	13	32821607	Frame_Shift_Del	DEL	A	TCGA-BR-4280-01A-01D-1126-08	4322995	32821607	82348271	529	11970											
NBEA	26960	broad.mit.edu	37	chr13	36006531	36006531	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaaagctgcaatagaatatgGttagtaccaatgcttcttcc	8	8	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:36006531G>C	uc001uvb.2	+	39	6510	c.6304_splice	c.e39+1	p.G2102_splice	NBEA_uc010abi.2_Splice_Site_p.G758_splice	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin							cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATAGAATATGGTTAGTACCAA	0.398													C	36006531	G	C	36006531	5	2	15	1	0	0	0	0	0	0	1	0	10187	1275	44	5	6459	5	NBEA	13	36006531	Splice_Site	SNP	G	TCGA-BR-4280-01A-01D-1126-08	3184924	36006531	79163347	530	11971											
DCLK1	9201	broad.mit.edu	37	chr13	36385001	36385001	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatgatttctggagccacGtatgttggggtgccacagac	13	9	1	2	rs144489471	byFrequency	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:36385001G>A	uc001uvf.2	-	12	1892	c.1659C>T	c.(1657-1659)TAC>TAT	p.Y553Y	DCLK1_uc001uve.3_Silent_p.Y246Y|DCLK1_uc010teh.1_Silent_p.Y246Y|DCLK1_uc010abk.2_Silent_p.Y73Y	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	553	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTGGAGCCACGTATGTTGGGG	0.478													A	36385001	G	A	36385001	2	1	15	1	0	0	0	0	0	0	0	1	4291	1140	40	1		1	DCLK1	13	36385001	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	378470	36385001	78784877	531	11972											
FREM2	341640	broad.mit.edu	37	chr13	39264788	39264788	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actccctgaatgatgacatcTtgtgcactatagttattcag	7	9	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:39264788T>A	uc001uwv.2	+	1	3616	c.3307T>A	c.(3307-3309)TTG>ATG	p.L1103M		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1103	Extracellular (Potential).|CSPG 7.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGATGACATCTTGTGCACTAT	0.398													A	39264788	T	A	39264788	3	1	15	1	0	0	0	0	1	0	0	0	6045	1606	56	5	3309	5	FREM2	13	39264788	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	2879787	39264788	75905090	532	11973											
NHLRC3	387921	broad.mit.edu	37	chr13	39621842	39621842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggaagtacttgattgtgGcccagctgaatcttagcagg	13	7	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:39621842G>A	uc001uxc.2	+	7	1145	c.823G>A	c.(823-825)GCC>ACC	p.A275T	NHLRC3_uc001uxd.2_Missense_Mutation_p.A208T|NHLRC3_uc001uxe.2_Missense_Mutation_p.A78T	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3 isoform a	275						extracellular region				skin(1)	1		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		CTTGATTGTGGCCCAGCTGAA	0.418													A	39621842	G	A	39621842	3	1	15	1	0	0	0	0	1	0	0	0	10407	1203	42	2	849	2	NHLRC3	13	39621842	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	357054	39621842	75548036	533	11974											
ELF1	1997	broad.mit.edu	37	chr13	41533046	41533046	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgaactctcagtaatcAtgtcattgggctcttccaca	7	12	4	1	rs138470719	by1000genomes	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:41533046A>G	uc001uxs.2	-	3	552	c.179T>C	c.(178-180)ATG>ACG	p.M60T	ELF1_uc010tfc.1_Missense_Mutation_p.M60T|ELF1_uc010acd.2_5'UTR	NM_172373	NP_758961	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription	60					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CTCAGTAATCATGTCATTGGG	0.453													G	41533046	A	G	41533046	3	3	15	1	0	0	0	0	1	0	0	0	5053	217	8	3	1708	3	ELF1	13	41533046	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1911204	41533046	73636832	534	11975											
MTRF1	9617	broad.mit.edu	37	chr13	41797467	41797467	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattatatgtccgaattcgCtctgactgggctcttgttcc	8	10	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:41797467C>T	uc001uxx.2	-	11	1619	c.1149G>A	c.(1147-1149)GAG>GAA	p.E383E	MTRF1_uc001uxy.2_Silent_p.E383E|MTRF1_uc001uxz.2_Silent_p.E219E|MTRF1_uc010tff.1_Silent_p.E396E|uc001uxv.1_Intron	NM_004294	NP_004285	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	383					regulation of translational termination	mitochondrion	translation release factor activity, codon specific				0		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TCCGAATTCGCTCTGACTGGG	0.378													T	41797467	C	T	41797467	2	4	15	1	0	0	0	0	0	0	0	1	9959	796	28	2		2	MTRF1	13	41797467	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	264421	41797467	73372411	535	11976											
SPERT	220082	broad.mit.edu	37	chr13	46287863	46287863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgaagaaggaccacgtcGccctgcaggtgccccgtggc	15	13	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:46287863G>A	uc001van.1	+	3	783	c.703G>A	c.(703-705)GCC>ACC	p.A235T	SPERT_uc001vao.2_Missense_Mutation_p.A199T	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	235						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GGACCACGTCGCCCTGCAGGT	0.677													A	46287863	G	A	46287863	3	1	15	1	0	0	0	0	1	0	0	0	15038	1087	38	1	713	1	SPERT	13	46287863	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	4490396	46287863	68882015	536	11977											
KPNA3	3839	broad.mit.edu	37	chr13	50296149	50296149	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcagagattgacaatgAcccatgtgacgttccgaagg	11	10	0	4			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:50296149A>G	uc001vdj.2	-	9	1083	c.668T>C	c.(667-669)GTC>GCC	p.V223A		NM_002267	NP_002258	O00505	IMA3_HUMAN	karyopherin alpha 3	223	NLS binding site (major) (By similarity).|ARM 4.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity				0		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		ATTGACAATGACCCATGTGAC	0.463													G	50296149	A	G	50296149	3	3	15	1	0	0	0	0	1	0	0	0	8431	275	10	3	933	3	KPNA3	13	50296149	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	4008286	50296149	64873729	537	11978											
SERPINE3	647174	broad.mit.edu	37	chr13	51922396	51922396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtgggggtgctggagcttCcttacctgggaagtgcagtg	18	7	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:51922396C>T	uc001vfh.2	+	4	808	c.748C>T	c.(748-750)CCT>TCT	p.P250S	SERPINE3_uc010tgp.1_Missense_Mutation_p.P250S	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	nexin-related serine protease inhibitor	250					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						GCTGGAGCTTCCTTACCTGGG	0.597													T	51922396	C	T	51922396	3	4	15	1	0	0	0	0	1	0	0	0	14113	855	30	4	762	4	SERPINE3	13	51922396	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1626247	51922396	63247482	538	11979											
SUGT1	10910	broad.mit.edu	37	chr13	53250454	53250454	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgccaaaacaattcgtagcAggtttgttttctggccttga	9	9	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:53250454A>G	uc001vhc.2	+	12	1038	c.813A>G	c.(811-813)GCA>GCG	p.A271A	SUGT1_uc001vha.2_RNA|SUGT1_uc001vhb.2_Silent_p.A239A|SUGT1_uc010thb.1_Silent_p.A183A|SUGT1_uc001vhd.2_Silent_p.A128A	NM_001130912	NP_001124384	Q9Y2Z0	SUGT1_HUMAN	suppressor of G2 allele of SKP1 isoform a	271					mitosis	kinetochore|ubiquitin ligase complex	binding				0		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		AATTCGTAGCAGGTTTGTTTT	0.358													G	53250454	A	G	53250454	2	3	15	1	0	0	0	0	0	0	0	1	15368	202	7	3		3	SUGT1	13	53250454	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1328058	53250454	61919424	539	11980											
PCDH8	5100	broad.mit.edu	37	chr13	53422549	53422549	+	Frame_Shift_Del	DEL	C	C	-													aggggaaaaggcaggggctgCcccaacgcctcacaggactc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:53422548_53422548GC>G	uc001vhi.3	-	0	228	c.24_24GC>C	c.(22-24)ggcfs	p.G8fs	PCDH8_uc001vhj.3_Frame_Shift_Del_p.G8fs	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	8					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.G8C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGCAGGGGCTGCCCCAACGCC	0.597													-	53422549	C	-	53422549	7	5	15	1	0	1	0	1	0	0	0	0	11517	739	26	0	3201	0	PCDH8	13	53422549	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	172095	53422549	61747329	540	11981											
PCDH17	27253	broad.mit.edu	37	chr13	58206969	58206969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaccgcgagtccctgtgcCgccacaatgccaagtgccag	11	16	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:58206969C>T	uc001vhq.1	+	1	1181	c.289C>T	c.(289-291)CGC>TGC	p.R97C	PCDH17_uc010aec.1_Missense_Mutation_p.R97C	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	97	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GTCCCTGTGCCGCCACAATGC	0.617													T	58206969	C	T	58206969	3	4	15	1	0	0	0	0	1	0	0	0	11512	652	23	1	291	1	PCDH17	13	58206969	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	4784420	58206969	56962909	541	11982											
PCDH17	27253	broad.mit.edu	37	chr13	58208750	58208750	+	Frame_Shift_Del	DEL	G	G	-													gtgagcggatcccttcccgaGggggtaccacgggtgaatgg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:58208749_58208749AG>A	uc001vhq.1	+	0	2961	c.2069_2069AG>A	c.(2068-2070)gagfs	p.E690fs	PCDH17_uc010aec.1_Frame_Shift_Del_p.E690fs	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	690	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCCCTTCCCGAGGGGGTACCA	0.632													-	58208750	G	-	58208750	7	5	15	1	0	1	0	1	0	0	0	0	11512	991	35	0	2072	0	PCDH17	13	58208750	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	1781	58208750	56961128	542	11983											
EDNRB	1910	broad.mit.edu	37	chr13	78492678	78492678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaccagcgcaaccagggCgcgtccgcacagacttggag	13	13	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:78492678C>T	uc001vko.2	-	1	289	c.31G>A	c.(31-33)GCC>ACC	p.A11T	uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.A11T|EDNRB_uc010aez.1_Missense_Mutation_p.A11T|EDNRB_uc001vkp.1_Missense_Mutation_p.A94T|EDNRB_uc010afa.1_Missense_Mutation_p.A11T	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	11					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GCAACCAGGGCGCGTCCGCAC	0.642											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	78492678	C	T	78492678	3	4	15	1	0	0	0	0	1	0	0	0	4920	768	27	1	1446	1	EDNRB	13	78492678	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	20283928	78492678	36677200	543	11984											
DOCK9	23348	broad.mit.edu	37	chr13	99505739	99505739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggtcaagtttatcacagCgaaccacggaatttcccaat	7	11	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:99505739C>T	uc001vnt.2	-	35	3927	c.3872G>A	c.(3871-3873)CGC>CAC	p.R1291H	DOCK9_uc001vnw.2_Missense_Mutation_p.R1290H|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.R1291H|DOCK9_uc010tip.1_5'UTR|DOCK9_uc010tiq.1_Missense_Mutation_p.R269H	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1291					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTTATCACAGCGAACCACGGA	0.378													T	99505739	C	T	99505739	3	4	15	1	0	0	0	0	1	0	0	0	4694	768	27	1	2421	1	DOCK9	13	99505739	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	21013061	99505739	15664139	544	11985											
UBAC2	337867	broad.mit.edu	37	chr13	99966475	99966475	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatatattgggactgcagGtacagtatgcatttttatgt	9	4	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:99966475G>A	uc001voa.3	+	5	997	c.513_splice	c.e5+1	p.Q171_splice	UBAC2_uc010tiu.1_Splice_Site_p.Q193_splice|UBAC2_uc001vob.3_Splice_Site_p.Q144_splice|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Splice_Site_p.Q58_splice|UBAC2_uc001voc.2_Splice_Site_p.Q136_splice|UBAC2_uc010tiw.1_Intron|UBAC2_uc001voh.2_Splice_Site	NM_001144072	NP_001137544	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2 isoform 1							integral to membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGACTGCAGGTACAGTATGC	0.338													A	99966475	G	A	99966475	5	1	15	1	0	0	0	0	0	0	1	0	16832	1275	44	4	692	4	UBAC2	13	99966475	Splice_Site	SNP	G	TCGA-BR-4280-01A-01D-1126-08	460736	99966475	15203403	545	11986											
TMCO3	55002	broad.mit.edu	37	chr13	114201628	114201629	+	Frame_Shift_Ins	INS	-	-	C													caacagggctccacgtgttcINScccacgtttgtggcgtacga							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr13:114201627_114201628T>TC	uc001vtu.4	+	10	2064_2065	c.1703_1704T>TC	c.(1702-1704)ttcfs	p.F568fs		NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	Homo sapiens transmembrane and coiled-coil domains 3 (TMCO3), mRNA.	568						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CTCCACGTGTTCCCCACGTTTG	0.574													C	114201629	-	C	114201628	7	5	15	1	0	1	1	0	0	0	0	0	15994	854	30	0	1742	0	TMCO3	13	114201628	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	14235153	114201628	968250	546	11987											
OR11H12	440153	broad.mit.edu	37	chr14	19377709	19377709	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttgtgagtggacaattcAgatcttcctcttctcactct	6	12	5	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:19377709A>C	uc010tkp.1	+	1	116	c.116A>C	c.(115-117)CAG>CCG	p.Q39P		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H,	39	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGACAATTCAGATCTTCCTC	0.423													C	19377709	A	C	19377709	3	2	15	1	0	0	0	0	1	0	0	0	10927	188	7	5	118	5	OR11H12	14	19377709	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08		19377709	87971831	547	11988											
POTEG	404785	broad.mit.edu	37	chr14	19553565	19553565	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcacttctggagaccacgAcgattctgctatgaagacac	11	11	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:19553565A>G	uc001vuz.1	+	1	201	c.149A>G	c.(148-150)GAC>GGC	p.D50G	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	50										ovary(1)	1						GGAGACCACGACGATTCTGCT	0.602													G	19553565	A	G	19553565	3	3	15	1	0	0	0	0	1	0	0	0	12266	275	10	3	151	3	POTEG	14	19553565	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	175856	19553565	87795975	548	11989											
OR4Q3	441669	broad.mit.edu	37	chr14	20215981	20215981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccatctgtaaccctttgcGctaccttacagtcatgaacc	6	14	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:20215981G>A	uc010tkt.1	+	1	395	c.395G>A	c.(394-396)CGC>CAC	p.R132H		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	132	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AACCCTTTGCGCTACCTTACA	0.493													A	20215981	G	A	20215981	3	1	15	1	0	0	0	0	1	0	0	0	11081	1087	38	1	397	1	OR4Q3	14	20215981	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	662416	20215981	87133559	549	11990											
OR4M1	441670	broad.mit.edu	37	chr14	20248625	20248625	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatatccttatcatttgcacCatcaggctagaccctcatct	4	13	4	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:20248625C>A	uc010tku.1	+	1	144	c.144C>A	c.(142-144)ACC>ACA	p.T48T		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	48	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCATTTGCACCATCAGGCTAG	0.433													A	20248625	C	A	20248625	2	1	15	1	0	0	0	0	0	0	0	1	11075	581	21	5		5	OR4M1	14	20248625	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	32644	20248625	87100915	550	11991											
OR4L1	122742	broad.mit.edu	37	chr14	20529031	20529031	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actcttgccgtattttatacAgttatcacacccttactgaa	4	11	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:20529031A>T	uc001vwn.1	+	1	828	c.828A>T	c.(826-828)ACA>ACT	p.T276T		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L,	276	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TATTTTATACAGTTATCACAC	0.363													T	20529031	A	T	20529031	2	4	15	1	0	0	0	0	0	0	0	1	11074	175	7	5		5	OR4L1	14	20529031	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	280406	20529031	86820509	551	11992											
ANG	283	broad.mit.edu	37	chr14	21162101	21162101	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacagcggggttcagaaaCgttgttgttgcttgtgaaaa	13	7	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:21162101C>T	uc001vxw.3	+	2	978	c.378C>T	c.(376-378)AAC>AAT	p.N126N	RNASE4_uc001vxx.3_Intron|RNASE4_uc001vxy.3_Intron|ANG_uc001vxz.2_Silent_p.N126N|RNASE4_uc001vya.2_Intron	NM_001145	NP_001136	P03950	ANGI_HUMAN	angiogenin, ribonuclease, RNase A family, 5	126					actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|response to hormone stimulus|response to hypoxia|rRNA transcription	angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus	actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|receptor binding|rRNA binding			ovary(1)	1	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		GGTTCAGAAACGTTGTTGTTG	0.532													T	21162101	C	T	21162101	2	4	15	1	0	0	0	0	0	0	0	1	607	535	19	1		1	ANG	14	21162101	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	633070	21162101	86187439	552	11993											
RNASE1	6035	broad.mit.edu	37	chr14	21270141	21270141	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttcttggcccgggattcCttgcccagggaaggctggac	13	11	1	0	rs150792279		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:21270141C>T	uc001vyf.2	-	2	263	c.87G>A	c.(85-87)AAG>AAA	p.K29K	RNASE1_uc001vyg.2_Silent_p.K29K|RNASE1_uc001vyh.2_Silent_p.K29K|RNASE1_uc001vyi.2_Silent_p.K29K	NM_198232	NP_937875	P07998	RNAS1_HUMAN	pancreatic ribonuclease precursor	29						extracellular region	nucleic acid binding|pancreatic ribonuclease activity|protein binding				0	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		CCCGGGATTCCTTGCCCAGGG	0.572													T	21270141	C	T	21270141	2	4	15	1	0	0	0	0	0	0	0	1	13399	680	24	4		4	RNASE1	14	21270141	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	108040	21270141	86079399	553	11994											
NDRG2	57447	broad.mit.edu	37	chr14	21488953	21488953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttcttacagcatatctcGccaggatgtaggctccagct	8	11	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:21488953G>A	uc001vyy.2	-	8	608	c.458C>T	c.(457-459)GCG>GTG	p.A153V	NDRG2_uc010tll.1_Missense_Mutation_p.A149V|NDRG2_uc001vyt.2_Missense_Mutation_p.A66V|NDRG2_uc001vyu.2_Missense_Mutation_p.A139V|NDRG2_uc001vyv.2_Missense_Mutation_p.A139V|NDRG2_uc001vyw.2_Missense_Mutation_p.A139V|NDRG2_uc001vzb.2_Missense_Mutation_p.A93V|NDRG2_uc001vyx.2_Missense_Mutation_p.A153V|NDRG2_uc001vza.2_Missense_Mutation_p.A139V|NDRG2_uc001vyz.2_Missense_Mutation_p.A139V|NDRG2_uc001vzc.2_Missense_Mutation_p.A139V|NDRG2_uc001vze.2_Missense_Mutation_p.A153V|NDRG2_uc001vzd.2_Missense_Mutation_p.A153V|NDRG2_uc001vzg.2_Missense_Mutation_p.A139V|NDRG2_uc001vzf.2_Missense_Mutation_p.A139V|NDRG2_uc010aig.2_Missense_Mutation_p.A153V	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	N-myc downstream-regulated gene 2 isoform a	153					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				ovary(1)|breast(1)	2	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AGCATATCTCGCCAGGATGTA	0.458													A	21488953	G	A	21488953	3	1	15	1	0	0	0	0	1	0	0	0	10252	1087	38	1	697	1	NDRG2	14	21488953	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	218812	21488953	85860587	554	11995											
CDH24	64403	broad.mit.edu	37	chr14	23517497	23517497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaacacgtctcggcgcgCgggagggccgggcgccgggg	22	13	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:23517497C>T	uc001wil.2	-	13	2412	c.2152G>A	c.(2152-2154)GCG>ACG	p.A718T	CDH24_uc001wik.3_RNA|CDH24_uc010akf.2_Missense_Mutation_p.A680T	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	718	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TCTcggcgcgcgggagggccg	0.607													T	23517497	C	T	23517497	3	4	15	1	0	0	0	0	1	0	0	0	3109	768	27	1	311	1	CDH24	14	23517497	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2028544	23517497	83832043	555	11996											
CDH24	64403	broad.mit.edu	37	chr14	23523785	23523785	+	Frame_Shift_Del	DEL	C	C	-													accgtagtgctgcctgacagCccccccatgtggccgcccat							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:23523785delC	uc001wil.2	-	5	974	c.714delG	c.(712-714)GGGfs	p.G238fs	CDH24_uc010akf.2_Frame_Shift_Del_p.G238fs|CDH24_uc001win.3_Frame_Shift_Del_p.G238fs	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	238	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TGCCTGACAGCCCCCCCATGT	0.607											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	23523785	C	-	23523785	7	5	15	1	0	1	0	1	0	0	0	0	3109	726	26	0	1781	0	CDH24	14	23523785	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	6288	23523785	83825755	556	11997											
PABPN1	8106	broad.mit.edu	37	chr14	23777209	23777209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggctcagcccaacaacGcttcacccaggtctccgatg	8	18	3	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:23777209G>A	uc001wjh.3	+	3	421	c.233G>A	c.(232-234)CGC>CAC	p.R78H	BCL2L2_uc001wjg.3_Missense_Mutation_p.R78H|BCL2L2_uc001wji.3_Missense_Mutation_p.R78H	NM_004643	NP_004634	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	Error:Variant_position_missing_in_Q86U42_after_alignment					modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle	cytoplasm|nucleoplasm|ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			ovary(2)	2	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GCCCAACAACGCTTCACCCAG	0.607													A	23777209	G	A	23777209	3	1	15	1	0	0	0	0	1	0	0	0	11368	1087	38	1		1	PABPN1	14	23777209	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	253424	23777209	83572331	557	11998											
MYH6	4624	broad.mit.edu	37	chr14	23855229	23855229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgctccaccacggcacGcagctcctccagctcagcct	8	19	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:23855229G>A	uc001wjv.2	-	34	5138	c.5071C>T	c.(5071-5073)CGT>TGT	p.R1691C		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1691	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACCACGGCACGCAGCTCCTCC	0.657													A	23855229	G	A	23855229	3	1	15	1	0	0	0	0	1	0	0	0	10038	1087	38	1	772	1	MYH6	14	23855229	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	78020	23855229	83494311	558	11999											
PCK2	5106	broad.mit.edu	37	chr14	24572069	24572069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagggtgtccccattgacGccatcatctttggtggccgc	12	13	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:24572069G>A	uc001wlt.2	+	8	1474	c.1342G>A	c.(1342-1344)GCC>ACC	p.A448T	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Missense_Mutation_p.A460T|PCK2_uc010tnw.1_Missense_Mutation_p.A314T|PCK2_uc010tnx.1_Missense_Mutation_p.A314T|PCK2_uc001wlu.3_Missense_Mutation_p.A314T	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	448					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)		CCCCATTGACGCCATCATCTT	0.577													A	24572069	G	A	24572069	3	1	15	1	0	0	0	0	1	0	0	0	11582	1087	38	1	1464	1	PCK2	14	24572069	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	716840	24572069	82777471	559	12000											
IPO4	79711	broad.mit.edu	37	chr14	24655530	24655530	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggagtctcccccatcagcTcaatctccaactcttcctct	5	17	6	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:24655530T>G	uc001wmv.1	-	10	1099	c.968A>C	c.(967-969)GAG>GCG	p.E323A	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmx.1_Missense_Mutation_p.E187A|IPO4_uc001wmy.1_Missense_Mutation_p.E187A|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Missense_Mutation_p.E323A	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	importin 4	323					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			kidney(1)	1				GBM - Glioblastoma multiforme(265;0.0087)		CCCCATCAGCTCAATCTCCAA	0.587													G	24655530	T	G	24655530	3	3	15	1	0	0	0	0	1	0	0	0	7795	1551	54	5	2361	5	IPO4	14	24655530	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	83461	24655530	82694010	560	12001											
TGM1	7051	broad.mit.edu	37	chr14	24727798	24727798	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttctcgtcgaagtagatgTccatggtaagggatgtgtct	13	6	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:24727798T>C	uc001wod.2	-	8	1365	c.1241A>G	c.(1240-1242)GAC>GGC	p.D414G	TGM1_uc010tog.1_Intron	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	414					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GAAGTAGATGTCCATGGTAAG	0.567													C	24727798	T	C	24727798	3	2	15	1	0	0	0	0	1	0	0	0	15826	1667	58	3	1244	3	TGM1	14	24727798	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	72268	24727798	82621742	561	12002											
PRKD1	5587	broad.mit.edu	37	chr14	30103733	30103733	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcatgagtgggatattgTtgcttgttgatggacttgag	13	6	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:30103733T>G	uc001wqh.2	-	8	1386	c.1205A>C	c.(1204-1206)AAC>ACC	p.N402T		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	402					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TGGGATATTGTTGCTTGTTGA	0.393													G	30103733	T	G	30103733	3	3	15	1	0	0	0	0	1	0	0	0	12518	1725	60	5	1577	5	PRKD1	14	30103733	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	5375935	30103733	77245807	562	12003											
SCFD1	23256	broad.mit.edu	37	chr14	31188570	31188570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttgatcccaaaatgctgCggggcaatgacaggtaagca	11	8	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:31188570C>T	uc001wqm.1	+	21	1747	c.1723C>T	c.(1723-1725)CGG>TGG	p.R575W	SCFD1_uc001wqn.1_Missense_Mutation_p.R508W|SCFD1_uc010tpg.1_Missense_Mutation_p.R516W|SCFD1_uc010tph.1_Missense_Mutation_p.R390W|SCFD1_uc010amf.1_Missense_Mutation_p.R390W|SCFD1_uc010tpi.1_Missense_Mutation_p.R483W|SCFD1_uc010ame.1_Missense_Mutation_p.R508W	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	vesicle transport-related protein isoform a	575					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding				0	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CAAAATGCTGCGGGGCAATGA	0.333													T	31188570	C	T	31188570	3	4	15	1	0	0	0	0	1	0	0	0	13889	759	27	1	1805	1	SCFD1	14	31188570	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1084837	31188570	76160970	563	12004											
HECTD1	25831	broad.mit.edu	37	chr14	31638663	31638663	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatctggatttgcaccatgCcgtaacagagtctagagaag	11	8	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:31638663C>T	uc001wrc.1	-	9	1833	c.1344G>A	c.(1342-1344)CGG>CGA	p.R448R	HECTD1_uc001wrd.1_5'Flank	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	448	ANK 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTGCACCATGCCGTAACAGAG	0.358													T	31638663	C	T	31638663	2	4	15	1	0	0	0	0	0	0	0	1	7039	726	26	2		2	HECTD1	14	31638663	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	450093	31638663	75710877	564	12005											
AKAP6	9472	broad.mit.edu	37	chr14	33015700	33015700	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctcctctccaagtcacgTcactaggaatggtgaggttg	11	11	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:33015700T>C	uc001wrq.2	+	4	2011	c.1841T>C	c.(1840-1842)GTC>GCC	p.V614A	AKAP6_uc010aml.2_Missense_Mutation_p.V611A	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	614					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CCAAGTCACGTCACTAGGAAT	0.478													C	33015700	T	C	33015700	3	2	15	1	0	0	0	0	1	0	0	0	455	1667	58	3	1851	3	AKAP6	14	33015700	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	1377037	33015700	74333840	565	12006											
INSM2	84684	broad.mit.edu	37	chr14	36005056	36005057	+	Frame_Shift_Ins	INS	-	-	T													tgcaagcactgcccgtccacINStttttttagctctccagggc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:36005056_36005057insT	uc001wth.1	+	1	1809_1810	c.1598_1599insT	c.(1597-1599)ACTfs	p.T533fs		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	533	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		TGCCCGTCCACTTTTTTTAGCT	0.629													T	36005057	-	T	36005056	7	5	15	1	0	1	1	0	0	0	0	0	7772	565	20	0	1600	0	INSM2	14	36005056	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	2989356	36005056	71344484	566	12007	27	2									
INSM2	84684	broad.mit.edu	37	chr14	36005057	36005058	+	Frame_Shift_Ins	INS	-	-	T													gcaagcactgcccgtccactINSttttttagctctccagggct							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:36005056_36005057C>CT	uc001wth.1	+	0	1809_1810	c.1598_1599C>CT	c.(1597-1599)actfs	p.T533fs		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	Homo sapiens insulinoma-associated 2 (INSM2), mRNA.	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		TGCCCGTCCACTTTTTTTAGCT	0.629													T	36005058	-	T	36005057	7	5	15	1	0	1	1	0	0	0	0	0	7772	1596	56	0	1601	0	INSM2	14	36005057	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	1	36005057	71344483	567	12008	27	2									
SEC23A	10484	broad.mit.edu	37	chr14	39514489	39514489	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcaggactattgttaaAaacttgcaggaaagaagatc	8	7	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:39514489A>G	uc001wup.1	-	16	2000	c.1777T>C	c.(1777-1779)TTT>CTT	p.F593L	SEC23A_uc010tqa.1_Missense_Mutation_p.F479L|SEC23A_uc010tqb.1_Missense_Mutation_p.F564L	NM_006364	NP_006355	Q15436	SC23A_HUMAN	SEC23-related protein A	593					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CTATTGTTAAAAACTTGCAGG	0.323													G	39514489	A	G	39514489	3	3	15	1	0	0	0	0	1	0	0	0	13991	14	1	3	540	3	SEC23A	14	39514489	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	3509432	39514489	67835051	568	12009											
KLHL28	54813	broad.mit.edu	37	chr14	45414534	45414534	+	Frame_Shift_Del	DEL	A	A	-													gatccaagactctaatgcatAaaaaacagtctcttcggtag							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:45414534delA	uc001wvq.2	-	2	844	c.598delT	c.(598-600)TATfs	p.Y200fs	KLHL28_uc001wvr.2_Frame_Shift_Del_p.Y200fs|KLHL28_uc001wvt.3_Frame_Shift_Del_p.Y200fs	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	200										ovary(1)	1						TCTAATGCATAAAAAACAGTC	0.368													-	45414534	A	-	45414534	7	5	15	1	0	1	0	1	0	0	0	0	8382	362	13	0	1133	0	KLHL28	14	45414534	Frame_Shift_Del	DEL	A	TCGA-BR-4280-01A-01D-1126-08	5900045	45414534	61935006	569	12010											
C14orf182	283551	broad.mit.edu	37	chr14	50472448	50472448	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcaggctccacacaggTtctactgctcctcttcctcc	6	17	4	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:50472448T>C	uc001wxi.1	-	1	1791	c.70A>G	c.(70-72)ACC>GCC	p.T24A		NM_001012706	NP_001012724	A1A4T8	CN182_HUMAN	hypothetical protein LOC283551	24											0						TCCACACAGGTTCTACTGCTC	0.502													C	50472448	T	C	50472448	3	2	15	1	0	0	0	0	1	0	0	0	1765	1725	60	3	265	3	C14orf182	14	50472448	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	5057914	50472448	56877092	570	12011											
TBPL2	387332	broad.mit.edu	37	chr14	55900349	55900349	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagggatgattcctcataccTtttggctcccgtgcagacca	10	12	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:55900349T>C	uc001xby.2	-	4	787	c.787A>G	c.(787-789)AGT>GGT	p.S263G		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	263					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding				0						TCCTCATACCTTTTGGCTCCC	0.443													C	55900349	T	C	55900349	3	2	15	1	0	0	0	0	1	0	0	0	15643	1623	56	3	356	3	TBPL2	14	55900349	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	5427901	55900349	51449191	571	12012											
C14orf105	55195	broad.mit.edu	37	chr14	57938138	57938138	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctggtcctcaccagtgctcGtggcttcttctcatctttcc	7	16	4	0	rs144453893	by1000genomes	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:57938138G>C	uc001xcy.2	-	6	969	c.826C>G	c.(826-828)CGA>GGA	p.R276G	C14orf105_uc010trl.1_Missense_Mutation_p.R316G|C14orf105_uc010trm.1_Missense_Mutation_p.R187G|C14orf105_uc010trn.1_Missense_Mutation_p.R187G|C14orf105_uc001xcz.2_Missense_Mutation_p.R275G	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	hypothetical protein LOC55195	276											0						ACCAGTGCTCGTGGCTTCTTC	0.453													C	57938138	G	C	57938138	3	2	15	1	0	0	0	0	1	0	0	0	1737	1153	40	5	68	5	C14orf105	14	57938138	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	2037789	57938138	49411402	572	12013											
WDR89	112840	broad.mit.edu	37	chr14	64065892	64065892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatcctggatgttcaaacGtgtaactggttcatcagtgt	10	8	3	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:64065892G>A	uc001xgh.2	-	3	1015	c.769C>T	c.(769-771)CGT>TGT	p.R257C	WDR89_uc001xgi.2_Missense_Mutation_p.R257C	NM_001008726	NP_001008726	Q96FK6	WDR89_HUMAN	WD repeat domain 89	257											0				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		ATGTTCAAACGTGTAACTGGT	0.383													A	64065892	G	A	64065892	3	1	15	1	0	0	0	0	1	0	0	0	17333	1145	40	1	398	1	WDR89	14	64065892	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	6127754	64065892	43283648	573	12014											
SYNE2	23224	broad.mit.edu	37	chr14	64655326	64655326	+	Frame_Shift_Del	DEL	A	A	-													tacatgggttgtattcaatgAaaaaaataaagagttgtgtg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:64655326delA	uc001xgm.2	+	98	18001	c.17771delA	c.(17770-17772)GAAfs	p.E5924fs	SYNE2_uc001xgl.2_Frame_Shift_Del_p.E5924fs|SYNE2_uc010apy.2_Frame_Shift_Del_p.E2309fs|SYNE2_uc001xgn.2_Frame_Shift_Del_p.E886fs|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR|SYNE2_uc001xgq.2_Frame_Shift_Del_p.E289fs	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5924	Spectrin 5.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTATTCAATGAAAAAAATAAA	0.388													-	64655326	A	-	64655326	7	5	15	1	0	1	0	1	0	0	0	0	15443	246	9	0	18157	0	SYNE2	14	64655326	Frame_Shift_Del	DEL	A	TCGA-BR-4280-01A-01D-1126-08	589434	64655326	42694214	574	12015											
ACTN1	87	broad.mit.edu	37	chr14	69358881	69358881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttctcctgcaccttgggCggcttgtgcaggcgccggta	13	14	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:69358881C>T	uc001xkl.2	-	10	1285	c.975G>A	c.(973-975)CCG>CCA	p.P325P	ACTN1_uc010ttb.1_Silent_p.P260P|ACTN1_uc001xkm.2_Silent_p.P325P|ACTN1_uc001xkn.2_Silent_p.P325P|ACTN1_uc001xko.1_Silent_p.P260P|ACTN1_uc010ttd.1_Silent_p.P304P	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	325	Spectrin 1.|Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GCACCTTGGGCGGCTTGTGCA	0.622													T	69358881	C	T	69358881	2	4	15	1	0	0	0	0	0	0	0	1	204	755	27	1		1	ACTN1	14	69358881	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	4703555	69358881	37990659	575	12016											
C14orf115	55237	broad.mit.edu	37	chr14	74824119	74824119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatccggccccgccgctgCgaccacgtgccctccacgct	10	21	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:74824119C>T	uc001xpw.3	+	2	824	c.633C>T	c.(631-633)TGC>TGT	p.C211C		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	211					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		CCCGCCGCTGCGACCACGTGC	0.637													T	74824119	C	T	74824119	2	4	15	1	0	0	0	0	0	0	0	1	1740	776	27	1		1	C14orf115	14	74824119	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	5465238	74824119	32525421	576	12017											
LTBP2	4053	broad.mit.edu	37	chr14	75022210	75022211	+	Frame_Shift_Ins	INS	-	-	G													acagggtatccttaccccagINSggggatgaggggtgctccag							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:75022209_75022210A>AG	uc001xqa.3	-	3	1404_1405	c.1017_1018T>CT	c.(1015-1020)ccctggfs	p.P339fs		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	339					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCCTTACCCCAGGGGGATGAGG	0.619													G	75022211	-	G	75022210	7	5	15	1	0	1	1	0	0	0	0	0	9074	987	35	0	4580	0	LTBP2	14	75022210	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	198091	75022210	32327330	577	12018											
PSMC1	5700	broad.mit.edu	37	chr14	90735804	90735804	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgttggaactgctgaaccaGttggatggatttgattctag	12	5	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:90735804G>C	uc001xyf.2	+	9	993	c.945G>C	c.(943-945)CAG>CAC	p.Q315H	PSMC1_uc001xyg.2_Missense_Mutation_p.Q242H|PSMC1_uc001xyh.2_Missense_Mutation_p.Q242H	NM_002802	NP_002793	P62191	PRS4_HUMAN	proteasome 26S ATPase subunit 1	315					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		TGCTGAACCAGTTGGATGGAT	0.398													C	90735804	G	C	90735804	3	2	15	1	0	0	0	0	1	0	0	0	12685	1020	36	5	979	5	PSMC1	14	90735804	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	15713594	90735804	16613736	578	12019											
FAM181A	90050	broad.mit.edu	37	chr14	94395475	94395475	+	Frame_Shift_Del	DEL	C	C	-													tccccaccaagccagccgtgCccccacccatcttcaatgtc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:94395475delC	uc001ybz.1	+	3	1337	c.1030delC	c.(1030-1032)CCCfs	p.P344fs	C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Frame_Shift_Del_p.P282fs|FAM181A_uc001yca.1_Frame_Shift_Del_p.P282fs	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN	hypothetical protein LOC90050	344											0						GCCAGCCGTGCCCCCACCCAT	0.672													-	94395475	C	-	94395475	7	5	15	1	0	1	0	1	0	0	0	0	5508	739	26	0	1036	0	FAM181A	14	94395475	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	3659671	94395475	12954065	579	12020											
ASB2	51676	broad.mit.edu	37	chr14	94413763	94413763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttggtcttgttggcgtcGgcaccctgtgacagcagaaa	13	9	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:94413763G>A	uc001ycc.1	-	5	1329	c.840C>T	c.(838-840)GCC>GCT	p.A280A	ASB2_uc001ycd.2_Silent_p.A328A|ASB2_uc001yce.1_Silent_p.A226A	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box-containing protein	280	ANK 7.				intracellular signal transduction					ovary(1)|pancreas(1)	2		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TGTTGGCGTCGGCACCCTGTG	0.617													A	94413763	G	A	94413763	2	1	15	1	0	0	0	0	0	0	0	1	1023	1103	39	1		1	ASB2	14	94413763	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	18288	94413763	12935777	580	12021											
SETD3	84193	broad.mit.edu	37	chr14	99871696	99871696	+	Frame_Shift_Del	DEL	A	A	-													tgcgttggatcgagtgccatAaaaaatgtaaatctgagatg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:99871696delA	uc001ygc.2	-	10	1107	c.937delT	c.(937-939)TATfs	p.Y313fs		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	SET domain containing 3 isoform a	313	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity				0		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CGAGTGCCATAAAAAATGTAA	0.398													-	99871696	A	-	99871696	7	5	15	1	0	1	0	1	0	0	0	0	14132	362	13	0	863	0	SETD3	14	99871696	Frame_Shift_Del	DEL	A	TCGA-BR-4280-01A-01D-1126-08	5457933	99871696	7477844	581	12022											
ADSSL1	122622	broad.mit.edu	37	chr14	105208323	105208323	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggcatcggggccttccCcaccgagcagatcaacgtga	13	13	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr14:105208323C>A	uc001ypd.2	+	9	1006	c.932C>A	c.(931-933)CCC>CAC	p.P311H	INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.P354H|ADSSL1_uc001ypf.2_RNA	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1 isoform 2	311					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(1)|central_nervous_system(1)	2		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GGGGCCTTCCCCACCGAGCAG	0.682													A	105208323	C	A	105208323	3	1	15	1	0	0	0	0	1	0	0	0	348	623	22	5	1291	5	ADSSL1	14	105208323	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	5336627	105208323	2141217	582	12023											
MAGEL2	54551	broad.mit.edu	37	chr15	23890722	23890722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcggtctatagaagagGccctgcattctcctgatgga	11	12	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:23890722G>A	uc001ywj.3	-	1	454	c.359C>T	c.(358-360)GCC>GTC	p.A120V		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TATAGAAGAGGCCCTGCATTC	0.592													A	23890722	G	A	23890722	3	1	15	1	0	0	0	0	1	0	0	0	9189	1203	42	2	1585	2	MAGEL2	15	23890722	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08		23890722	78640670	583	12024											
C15orf2	23742	broad.mit.edu	37	chr15	24923624	24923624	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacagcattgcctcagcccaAgtctccaccagttttcctgc	7	16	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:24923624A>C	uc001ywo.2	+	1	3084	c.2610A>C	c.(2608-2610)CAA>CAC	p.Q870H		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	870					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTCAGCCCAAGTCTCCACCA	0.498													C	24923624	A	C	24923624	3	2	15	1	0	0	0	0	1	0	0	0	1784	69	3	5	2612	5	C15orf2	15	24923624	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1032902	24923624	77607768	584	12025											
OTUD7A	161725	broad.mit.edu	37	chr15	31776530	31776530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggcgtggtcttttccgacGgcgacgtgctggccgacgca	15	13	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:31776530G>A	uc001zfq.2	-	11	1841	c.1748C>T	c.(1747-1749)CCG>CTG	p.P583L	OTUD7A_uc001zfr.2_Missense_Mutation_p.P590L	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	583						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CTTTTCCGACGGCGACGTGCT	0.697													A	31776530	G	A	31776530	3	1	15	1	0	0	0	0	1	0	0	0	11318	1116	39	1	1036	1	OTUD7A	15	31776530	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	6852906	31776530	70754862	585	12026											
FMN1	342184	broad.mit.edu	37	chr15	33358802	33358802	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcatgtctcatcttgcgCttgagagcttccagctcaga	8	12	4	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:33358802C>T	uc001zhf.3	-	1	1284	c.1284G>A	c.(1282-1284)AAG>AAA	p.K428K	FMN1_uc001zhg.2_Silent_p.K428K	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	178	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCATCTTGCGCTTGAGAGCTT	0.527													T	33358802	C	T	33358802	2	4	15	1	0	0	0	0	0	0	0	1	5949	796	28	2		2	FMN1	15	33358802	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1582272	33358802	69172590	586	12027											
TMCO5A	145942	broad.mit.edu	37	chr15	38228551	38228551	+	Frame_Shift_Del	DEL	A	A	-													atctcaagattggctcagtcAaaaagaaacattatcagttt							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:38228551delA	uc001zjw.2	+	2	130	c.27delA	c.(25-27)TCAfs	p.S9fs	TMCO5A_uc001zjv.1_Frame_Shift_Del_p.S9fs|TMCO5A_uc010bbc.1_Frame_Shift_Del_p.S9fs	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	9						integral to membrane				central_nervous_system(1)	1						TGGCTCAGTCAAAAAGAAACA	0.403													-	38228551	A	-	38228551	7	5	15	1	0	1	0	1	0	0	0	0	15996	117	5	0	29	0	TMCO5A	15	38228551	Frame_Shift_Del	DEL	A	TCGA-BR-4280-01A-01D-1126-08	4869749	38228551	64302841	587	12028											
BUB1B	701	broad.mit.edu	37	chr15	40477506	40477506	+	Frame_Shift_Del	DEL	C	C	-													cagtccagccatggatagcaCcccccatgcccagggccaaa							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:40477506delC	uc001zkx.3	+	7	1104	c.892delC	c.(892-894)CCCfs	p.P298fs	BUB1B_uc010ucl.1_Frame_Shift_Del_p.P161fs	NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	298					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|kidney(1)	4		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		ATGGATAGCACCCCCCATGCC	0.478			Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome				-	40477506	C	-	40477506	7	5	15	1	0	1	0	1	0	0	0	0	1571	507	18	0	918	0	BUB1B	15	40477506	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	2248955	40477506	62053886	588	12029											
PLA2G4E	123745	broad.mit.edu	37	chr15	42302336	42302338	+	In_Frame_Del	DEL	CCA	CCA	-													tttccagaacactggcccccCcaccccgggcctggaccaca					rs28736629		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:42302336_42302338delCCA	uc001zow.1	-	1	108_110	c.108_110delTGG	c.(106-111)GGTGGG>GGG	p.36_37GG>G		NM_001080490	NP_001073959	Q3MJ16	PA24E_HUMAN	phospholipase A2, group 4E	Error:Variant_position_missing_in_Q3MJ16_after_alignment					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity				0		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		ACTGGCCCCCCCACCCCGGGCCT	0.591													-	42302338	CCA	-	42302336	7	5	15	1	0	1	0	1	0	0	0	0	12005	623	22	0	2485	0	PLA2G4E	15	42302336	In_Frame_Del	DEL	CCA	TCGA-BR-4280-01A-01D-1126-08	1824830	42302336	60229056	589	12030											
TGM5	9333	broad.mit.edu	37	chr15	43545709	43545709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccagggacctcaccatggCacacaccactctgctgacgt	9	17	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:43545709C>T	uc001zrd.1	-	5	687	c.679G>A	c.(679-681)GCC>ACC	p.A227T	TGM5_uc001zre.1_Missense_Mutation_p.A145T	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	227					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CTCACCATGGCACACACCACT	0.647													T	43545709	C	T	43545709	3	4	15	1	0	0	0	0	1	0	0	0	15830	710	25	2	1519	2	TGM5	15	43545709	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1243373	43545709	58985683	590	12031											
TP53BP1	7158	broad.mit.edu	37	chr15	43748661	43748661	+	Frame_Shift_Del	DEL	T	T	-													tccatagcttctgagcattcTttttttggcatttccttttg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:43748660_43748660CT>C	uc001zrs.3	-	11	2279	c.2131_2131AG>G	c.(2131-2133)gaafs	p.E711fs	TP53BP1_uc010udp.2_Frame_Shift_Del_p.E711fs|TP53BP1_uc001zrq.4_Frame_Shift_Del_p.E716fs|TP53BP1_uc001zrr.4_Frame_Shift_Del_p.E716fs|TP53BP1_uc010udq.1_Frame_Shift_Del_p.E716fs	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	711					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCTGAGCATTCTTTTTTTGGC	0.403								Other conserved DNA damage response genes					-	43748661	T	-	43748661	7	5	15	1	0	1	0	1	0	0	0	0	16380	1606	56	0	3856	0	TP53BP1	15	43748661	Frame_Shift_Del	DEL	T	TCGA-BR-4280-01A-01D-1126-08	202952	43748661	58782731	591	12032											
RNF111	54778	broad.mit.edu	37	chr15	59359012	59359012	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaacggaaactggccctccTgcaatgccaaggttaccttc	9	13	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:59359012T>C	uc002afv.2	+	6	1695	c.1416T>C	c.(1414-1416)CCT>CCC	p.P472P	RNF111_uc002afs.2_Silent_p.P472P|RNF111_uc002aft.2_Silent_p.P472P|RNF111_uc002afu.2_Silent_p.P472P|RNF111_uc002afw.2_Silent_p.P472P|RNF111_uc002afx.2_5'UTR	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	472					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)		CTGGCCCTCCTGCAATGCCAA	0.448													C	59359012	T	C	59359012	2	2	15	1	0	0	0	0	0	0	0	1	13425	1567	55	3		3	RNF111	15	59359012	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	15610351	59359012	43172380	592	12033											
RNF111	54778	broad.mit.edu	37	chr15	59373146	59373146	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgcagatgcctctttgAcaaggccacttcatcatcaa	6	12	5	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:59373146A>G	uc002afv.2	+	8	2239	c.1960A>G	c.(1960-1962)ACA>GCA	p.T654A	RNF111_uc002afs.2_Missense_Mutation_p.T654A|RNF111_uc002aft.2_Missense_Mutation_p.T654A|RNF111_uc002afu.2_Missense_Mutation_p.T653A|RNF111_uc002afw.2_Missense_Mutation_p.T654A|RNF111_uc002afx.2_Missense_Mutation_p.T180A	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	654	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)		TGCCTCTTTGACAAGGCCACT	0.423													G	59373146	A	G	59373146	3	3	15	1	0	0	0	0	1	0	0	0	13425	275	10	3	1986	3	RNF111	15	59373146	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	14134	59373146	43158246	593	12034											
RNF111	54778	broad.mit.edu	37	chr15	59376343	59376343	+	Frame_Shift_Del	DEL	C	C	-													tccaggcgggcacatgaacgCcccccaccccatccacatag							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:59376342_59376342GC>G	uc002afv.3	+	8	2591	c.2312_2312GC>G	c.(2311-2313)cgcfs	p.R771fs	RNF111_uc002afs.3_Frame_Shift_Del_p.R771fs|RNF111_uc002aft.3_Frame_Shift_Del_p.R780fs|RNF111_uc002afu.3_Frame_Shift_Del_p.R770fs|RNF111_uc002afw.3_Frame_Shift_Del_p.R780fs|RNF111_uc002afx.3_Frame_Shift_Del_p.R297fs|RNF111_uc002afy.3_5'Flank	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	771	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R771C(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GCACATGAACGCCCCCCACCC	0.443													-	59376343	C	-	59376343	7	5	15	1	0	1	0	1	0	0	0	0	13425	726	26	0	2343	0	RNF111	15	59376343	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	3197	59376343	43155049	594	12035											
NARG2	79664	broad.mit.edu	37	chr15	60758863	60758863	+	Frame_Shift_Del	DEL	A	A	-													atttctttgcagaattctgcAaaaactttaggaactcagta							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:60758863delA	uc002agp.2	-	5	693	c.458delT	c.(457-459)TTGfs	p.L153fs	NARG2_uc002ago.2_Frame_Shift_Del_p.L16fs|NARG2_uc010bgk.2_Frame_Shift_Del_p.L153fs|NARG2_uc002agr.1_Frame_Shift_Del_p.L153fs	NM_024611	NP_078887	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	153						nucleus				ovary(1)|lung(1)	2						AGAATTCTGCAAAAACTTTAG	0.318													-	60758863	A	-	60758863	7	5	15	1	0	1	0	1	0	0	0	0	10169	131	5	0	2538	0	NARG2	15	60758863	Frame_Shift_Del	DEL	A	TCGA-BR-4280-01A-01D-1126-08	1382520	60758863	41772529	595	12036											
HERC1	8925	broad.mit.edu	37	chr15	63904497	63904497	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaaatgtcagcagtgtTggctggtagtcgagatcttc	13	7	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:63904497T>C	uc002amp.2	-	77	14501	c.14353A>G	c.(14353-14355)AAC>GAC	p.N4785D	HERC1_uc002amo.2_5'Flank	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	4785	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TCAGCAGTGTTGGCTGGTAGT	0.443													C	63904497	T	C	63904497	3	2	15	1	0	0	0	0	1	0	0	0	7057	1812	63	3	240	3	HERC1	15	63904497	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	3145634	63904497	38626895	596	12037											
FAM96A	84191	broad.mit.edu	37	chr15	64373351	64373351	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttactcttaagcacagccCtgtggagggaaaatcacacc	8	11	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:64373351C>A	uc002amt.1	-	3	530	c.290_splice	c.e3-1	p.G97_splice	FAM96A_uc002amu.1_Intron|FAM96A_uc010uin.1_Intron	NM_032231	NP_115607	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A						chromosome segregation						0						AAGCACAGCCCTGTGGAGGGA	0.338													A	64373351	C	A	64373351	5	1	15	1	0	0	0	0	0	0	1	0	5654	695	24	5	205	5	FAM96A	15	64373351	Splice_Site	SNP	C	TCGA-BR-4280-01A-01D-1126-08	468854	64373351	38158041	597	12038											
CYP11A1	1583	broad.mit.edu	37	chr15	74640300	74640300	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taggcgacccagggcgggatGaggaatcgttctgggttggg	19	7	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:74640300G>A	uc002axt.2	-	2	521	c.366C>T	c.(364-366)CTC>CTT	p.L122L	CYP11A1_uc002axs.2_5'UTR|CYP11A1_uc010bjm.1_Intron|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Silent_p.L122L|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.2_Silent_p.L122L	NM_000781	NP_000772	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A,	122					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			ovary(2)	2					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	AGGGCGGGATGAGGAATCGTT	0.577													A	74640300	G	A	74640300	2	1	15	1	0	0	0	0	0	0	0	1	4144	1277	45	4		4	CYP11A1	15	74640300	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	10266949	74640300	27891092	598	12039											
CHRNA5	1138	broad.mit.edu	37	chr15	78882366	78882366	+	Frame_Shift_Del	DEL	T	T	-													caagatgtagacaagagagaTttttttgataatggagaatg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:78882365_78882365AT>A	uc002bdy.3	+	4	832	c.632_632AT>A	c.(631-633)gatfs	p.D211fs		NM_000745	NP_000736	P30532	ACHA5_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 5 (CHRNA5), mRNA.	211					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						GACAAGAGAGATTTTTTTGAT	0.403													-	78882366	T	-	78882366	7	5	15	1	0	1	0	1	0	0	0	0	3386	1490	52	0	651	0	CHRNA5	15	78882366	Frame_Shift_Del	DEL	T	TCGA-BR-4280-01A-01D-1126-08	4242066	78882366	23649026	599	12040											
AP3B2	8120	broad.mit.edu	37	chr15	83333197	83333197	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctggactccccagagccgCtctcactgctgctcttactg	9	16	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:83333197C>A	uc010uoh.1	-	18	2303	c.2126G>T	c.(2125-2127)AGC>ATC	p.S709I	AP3B2_uc010uoi.1_Missense_Mutation_p.S728I|AP3B2_uc010uoj.1_Missense_Mutation_p.S677I|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.S345I|AP3B2_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	709	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCCAGAGCCGCTCTCACTGCT	0.557													A	83333197	C	A	83333197	3	1	15	1	0	0	0	0	1	0	0	0	745	797	28	5	1158	5	AP3B2	15	83333197	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	4450831	83333197	19198195	600	12041											
BLM	641	broad.mit.edu	37	chr15	91295092	91295092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttccatgtattgaatttgAtgatgatgattatgatacgg	10	3	0	6			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr15:91295092A>G	uc002bpr.2	+	4	972	c.875A>G	c.(874-876)GAT>GGT	p.D292G	BLM_uc010uqh.1_Missense_Mutation_p.D292G|BLM_uc010uqi.1_5'UTR|BLM_uc010bnx.2_Missense_Mutation_p.D292G	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	292	Poly-Asp.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			ATTGAATTTGATGATGATGAT	0.318			Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				G	91295092	A	G	91295092	3	3	15	1	0	0	0	0	1	0	0	0	1445	333	12	3	885	3	BLM	15	91295092	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	7961895	91295092	11236300	601	12042											
SOLH	6650	broad.mit.edu	37	chr16	603483	603483	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccccccactcacgccagaGgtcgccggtctgcatgggcc	12	18	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:603483G>T	uc002chi.2	+	14	3591	c.3228G>T	c.(3226-3228)GAG>GAT	p.E1076D	SOLH_uc002chj.2_Missense_Mutation_p.E136D	NM_005632	NP_005623	O75808	CAN15_HUMAN	small optic lobes	1076					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(780;0.00335)				TCACGCCAGAGGTCGCCGGTC	0.672													T	603483	G	T	603483	3	4	15	1	0	0	0	0	1	0	0	0	14925	991	35	5	3270	5	SOLH	16	603483	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08		603483	89751270	602	12043											
TELO2	9894	broad.mit.edu	37	chr16	1556268	1556268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcagggcccggcaggcagCcccagcagattcaactccgt	13	15	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:1556268C>T	uc002cly.2	+	17	2355	c.2064C>T	c.(2062-2064)AGC>AGT	p.S688S		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	TEL2, telomere maintenance 2, homolog	688						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding				0		Hepatocellular(780;0.219)				CGGCAGGCAGCCCCAGCAGAT	0.662													T	1556268	C	T	1556268	2	4	15	1	0	0	0	0	0	0	0	1	15754	738	26	2		2	TELO2	16	1556268	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	952785	1556268	88798485	603	12044											
PKD1	5310	broad.mit.edu	37	chr16	2158763	2158763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacggtcaccgtggcctgCgccacgaagaagctcaccag	13	14	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:2158763C>T	uc002cos.1	-	15	6614	c.6405G>A	c.(6403-6405)GCG>GCA	p.A2135A	PKD1_uc002cot.1_Silent_p.A2135A	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2135	PKD 17.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CCGTGGCCTGCGCCACGAAGA	0.672													T	2158763	C	T	2158763	2	4	15	1	0	0	0	0	0	0	0	1	11963	755	27	1		1	PKD1	16	2158763	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	602495	2158763	88195990	604	12045											
ZNF205	7755	broad.mit.edu	37	chr16	3170075	3170075	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcacaaccgcacacacacaGgcgagaagccctaccactgc	8	18	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:3170075G>T	uc002cub.2	+	7	1549	c.1414G>T	c.(1414-1416)GGC>TGC	p.G472C	ZNF205_uc002cua.2_Missense_Mutation_p.G472C	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						CACACACACAGGCGAGAAGCC	0.672													T	3170075	G	T	3170075	3	4	15	1	0	0	0	0	1	0	0	0	17761	1000	35	5	1436	5	ZNF205	16	3170075	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1011312	3170075	87184678	605	12046											
GRIN2A	2903	broad.mit.edu	37	chr16	9934585	9934585	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccacaaagggcacagagaAgtccaccacttcagaacgtt	8	12	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:9934585A>C	uc002czo.3	-	7	2118	c.1570T>G	c.(1570-1572)TTC>GTC	p.F524V	GRIN2A_uc010uym.1_Missense_Mutation_p.F524V|GRIN2A_uc010uyn.1_Missense_Mutation_p.F367V|GRIN2A_uc002czr.3_Missense_Mutation_p.F524V	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	524	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGCACAGAGAAGTCCACCACT	0.458													C	9934585	A	C	9934585	3	2	15	1	0	0	0	0	1	0	0	0	6779	72	3	5	2852	5	GRIN2A	16	9934585	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	6764510	9934585	80420168	606	12047											
ITPRIPL2	162073	broad.mit.edu	37	chr16	19127146	19127146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatacgctcttccactgcGtcctgggccctggtggggcg	14	15	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:19127146G>A	uc002dfu.3	+	1	1893	c.1363G>A	c.(1363-1365)GTC>ATC	p.V455I	ITPRIPL2_uc002dft.2_Missense_Mutation_p.V151I	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-triphosphate receptor interacting	455	Cytoplasmic (Potential).					integral to membrane				skin(2)	2						CTTCCACTGCGTCCTGGGCCC	0.672													A	19127146	G	A	19127146	3	1	15	1	0	0	0	0	1	0	0	0	7925	1145	40	1	1365	1	ITPRIPL2	16	19127146	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	9192561	19127146	71227607	607	12048											
PLK1	5347	broad.mit.edu	37	chr16	23695383	23695383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcctggaccccagcaacCggaagcccctcacagtcctc	9	19	1	0	rs150139246		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:23695383C>T	uc002dlz.1	+	5	1062	c.1009C>T	c.(1009-1011)CGG>TGG	p.R337W		NM_005030	NP_005021	P53350	PLK1_HUMAN	polo-like kinase 1	337	D-box that targets the protein for proteasomal degradation in anaphase.			R->A: Interferes with ubiquitination and subsequent proteasomal degradation in anaphase; when associated with A-340.	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			lung(1)|skin(1)	2				GBM - Glioblastoma multiforme(48;0.0156)		CCCCAGCAACCGGAAGCCCCT	0.557													T	23695383	C	T	23695383	3	4	15	1	0	0	0	0	1	0	0	0	12094	643	23	1	1027	1	PLK1	16	23695383	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	4568237	23695383	66659370	608	12049											
AQP8	343	broad.mit.edu	37	chr16	25228660	25228660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctctcttcatcttcatcGggtgcctgtcggtcattgag	10	12	5	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:25228660G>A	uc002doc.2	+	2	236	c.154G>A	c.(154-156)GGG>AGG	p.G52R		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8	52	Helical; (Potential).				cellular response to cAMP	integral to plasma membrane	water channel activity			upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(48;0.044)		CATCTTCATCGGGTGCCTGTC	0.637													A	25228660	G	A	25228660	3	1	15	1	0	0	0	0	1	0	0	0	832	1116	39	1	160	1	AQP8	16	25228660	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1533277	25228660	65126093	609	12050											
KIAA0556	23247	broad.mit.edu	37	chr16	27709693	27709693	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtctgcaacccgcaaaActctttgcgaggctgagtac	9	14	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:27709693A>C	uc002dow.2	+	9	1009	c.985A>C	c.(985-987)ACT>CCT	p.T329P	KIAA0556_uc002dox.1_Missense_Mutation_p.T237P	NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	329										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						AACCCGCAAAACTCTTTGCGA	0.577													C	27709693	A	C	27709693	3	2	15	1	0	0	0	0	1	0	0	0	8183	43	2	5	1019	5	KIAA0556	16	27709693	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	2481033	27709693	62645060	610	12051											
TAOK2	9344	broad.mit.edu	37	chr16	29997132	29997132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtgtcgccagtacaagCgcaagatgttgctggctcgg	14	10	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:29997132C>T	uc002dva.1	+	15	2725	c.1942C>T	c.(1942-1944)CGC>TGC	p.R648C	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.R648C|TAOK2_uc002dvc.1_Missense_Mutation_p.R648C|TAOK2_uc010bzm.1_Missense_Mutation_p.R655C|TAOK2_uc002dvd.1_Missense_Mutation_p.R475C	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	648					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						CCAGTACAAGCGCAAGATGTT	0.652													T	29997132	C	T	29997132	3	4	15	1	0	0	0	0	1	0	0	0	15545	768	27	1	1996	1	TAOK2	16	29997132	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2287439	29997132	60357621	611	12052											
ZNF768	79724	broad.mit.edu	37	chr16	30536832	30536832	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaaggtggccctatgggcAggtcccctgtgggctgctcc	14	13	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:30536832A>G	uc002dyk.3	-	2	805	c.629T>C	c.(628-630)CTG>CCG	p.L210P	ZNF768_uc010vex.1_Missense_Mutation_p.L179P|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.L179P	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	210					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0						CCCTATGGGCAGGTCCCCTGT	0.577													G	30536832	A	G	30536832	3	3	15	1	0	0	0	0	1	0	0	0	18138	188	7	3	997	3	ZNF768	16	30536832	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	539700	30536832	59817921	612	12053											
PHKG2	5261	broad.mit.edu	37	chr16	30768297	30768297	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtaaagaaaggggagcAgcagaaccgggcggctctct	16	9	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:30768297A>G	uc002dzk.1	+	10	1193	c.1100A>G	c.(1099-1101)CAG>CGG	p.Q367R	PHKG2_uc002dzi.1_Missense_Mutation_p.Q371R|PHKG2_uc002dzj.1_Missense_Mutation_p.Q265R	NM_000294	NP_000285	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	367	Calmodulin-binding (domain-C) (By similarity).				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)	1			Colorectal(24;0.198)			AAAGGGGAGCAGCAGAACCGG	0.597													G	30768297	A	G	30768297	3	3	15	1	0	0	0	0	1	0	0	0	11847	188	7	3	1134	3	PHKG2	16	30768297	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	231465	30768297	59586456	613	12054											
ITGAX	3687	broad.mit.edu	37	chr16	31374335	31374335	+	Frame_Shift_Del	DEL	C	C	-													cgacctggtcctcatcggggCcccccattactacgagcaga							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:31374334_31374334GC>G	uc002ebt.3	+	12	1505	c.1438_1438GC>G	c.(1438-1440)gccfs	p.A480fs	ITGAX_uc002ebu.1_Frame_Shift_Del_p.A480fs|ITGAX_uc010vfk.1_Frame_Shift_Del_p.A130fs	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	480				A -> P (in Ref. 2; AAA51620).	blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCTCATCGGGGCCCCCCATTA	0.672													-	31374335	C	-	31374335	7	5	15	1	0	1	0	1	0	0	0	0	7889	739	26	0	1489	0	ITGAX	16	31374335	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	606038	31374335	58980418	614	12055											
ABCC11	85320	broad.mit.edu	37	chr16	48239399	48239399	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgatccaggcctgctgggggAcataggccaggcttccctgc	14	14	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:48239399A>G	uc002eff.1	-	12	2080	c.1730T>C	c.(1729-1731)GTC>GCC	p.V577A	ABCC11_uc002efg.1_Missense_Mutation_p.V577A|ABCC11_uc002efh.1_Missense_Mutation_p.V577A|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	577	ABC transporter 1.|Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CTGCTGGGGGACATAGGCCAG	0.622									Cerumen_Type				G	48239399	A	G	48239399	3	3	15	1	0	0	0	0	1	0	0	0	51	275	10	3	2490	3	ABCC11	16	48239399	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	16865064	48239399	42115354	615	12056											
ADCY7	113	broad.mit.edu	37	chr16	50326687	50326687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacctcttcacctacactgTgaagtgcatccagatccgcc	8	15	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:50326687T>C	uc002egd.1	+	4	906	c.638T>C	c.(637-639)GTG>GCG	p.V213A	ADCY7_uc002egb.1_Missense_Mutation_p.V213A|ADCY7_uc002egc.1_Missense_Mutation_p.V213A	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	213	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	ACCTACACTGTGAAGTGCATC	0.612													C	50326687	T	C	50326687	3	2	15	1	0	0	0	0	1	0	0	0	299	1696	59	3	652	3	ADCY7	16	50326687	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	2087288	50326687	40028066	616	12057											
IRX3	79191	broad.mit.edu	37	chr16	54318975	54318975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgccatccctgcgcgccGccccagccagggacagctca	12	19	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:54318975G>A	uc002eht.1	-	2	1234	c.818C>T	c.(817-819)GCG>GTG	p.A273V		NM_024336	NP_077312	P78415	IRX3_HUMAN	iroquois homeobox 3	273					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CCTGCGCGCCGCCCCAGCCAG	0.493													A	54318975	G	A	54318975	3	1	15	1	0	0	0	0	1	0	0	0	7845	1087	38	1	699	1	IRX3	16	54318975	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	3992288	54318975	36035778	617	12058											
LPCAT2	54947	broad.mit.edu	37	chr16	55583231	55583231	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcatacctatgaagactgCagattgatgatttcagcagg	10	7	2	5			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:55583231C>T	uc002eie.3	+	10	1159	c.978C>T	c.(976-978)TGC>TGT	p.C326C	LPCAT2_uc002eic.2_Silent_p.C56C	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	326	Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0						ATGAAGACTGCAGATTGATGA	0.318													T	55583231	C	T	55583231	2	4	15	1	0	0	0	0	0	0	0	1	8911	718	25	2		2	LPCAT2	16	55583231	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1264256	55583231	34771522	618	12059											
LPCAT2	54947	broad.mit.edu	37	chr16	55584911	55584911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgaatatgcatctattgCgagttcctcaaaaggaggaa	11	6	2	1	rs139462449		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:55584911C>T	uc002eie.3	+	11	1293	c.1112C>T	c.(1111-1113)GCG>GTG	p.A371V	LPCAT2_uc002eic.2_Missense_Mutation_p.A101V	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	371	Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0						GCATCTATTGCGAGTTCCTCA	0.348													T	55584911	C	T	55584911	3	4	15	1	0	0	0	0	1	0	0	0	8911	768	27	1	1154	1	LPCAT2	16	55584911	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1680	55584911	34769842	619	12060											
CES1	1066	broad.mit.edu	37	chr16	55850858	55850858	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctctggggtctccctgtaagTccagagataagaatttctgt	10	9	3	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:55850858T>A	uc002eim.2	-	8	1028	c.920A>T	c.(919-921)GAC>GTC	p.D307V	CES1_uc010ccf.2_5'UTR|CES1_uc002eil.2_Missense_Mutation_p.D308V|CES1_uc002ein.2_Missense_Mutation_p.D307V	NM_001025194	NP_001020365	P23141	EST1_HUMAN	carboxylesterase 1 isoform b precursor	307					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	TCCCTGTAAGTCCAGAGATAA	0.473													A	55850858	T	A	55850858	3	1	15	1	0	0	0	0	1	0	0	0	3269	1667	58	5	811	5	CES1	16	55850858	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	265947	55850858	34503895	620	12061											
RSPRY1	89970	broad.mit.edu	37	chr16	57246908	57246908	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactccagaaattgactgaaAttctcaatttaaatggagaa	6	7	1	4			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:57246908A>G	uc002elb.2	+	5	819	c.541A>G	c.(541-543)ATT>GTT	p.I181V	RSPRY1_uc002elc.2_Missense_Mutation_p.I181V|RSPRY1_uc002eld.2_Missense_Mutation_p.I181V	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	181						extracellular region	zinc ion binding			ovary(1)	1						ATTGACTGAAATTCTCAATTT	0.428													G	57246908	A	G	57246908	3	3	15	1	0	0	0	0	1	0	0	0	13713	101	4	3	555	3	RSPRY1	16	57246908	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1396050	57246908	33107845	621	12062											
ZNF319	57567	broad.mit.edu	37	chr16	58031628	58031628	+	Frame_Shift_Del	DEL	G	G	-													cgggtgctgcgggaagcgacGgggcggctgtggtggctggc					rs141462652		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:58031628delG	uc002emx.1	-	2	1165	c.542delC	c.(541-543)CCGfs	p.P181fs		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGGAAGCGACGGGGCGGCTGT	0.632													-	58031628	G	-	58031628	7	5	15	1	0	1	0	1	0	0	0	0	17834	1116	39	0	1210	0	ZNF319	16	58031628	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	784720	58031628	32323125	622	12063											
CDH8	1006	broad.mit.edu	37	chr16	61935209	61935209	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaggtttgcttgtctcccAgtccactgcttgagctgtta	10	11	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:61935209A>G	uc002eog.1	-	3	673	c.421T>C	c.(421-423)TGG>CGG	p.W141R		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	141	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTTGTCTCCCAGTCCACTGCT	0.403													G	61935209	A	G	61935209	3	3	15	1	0	0	0	0	1	0	0	0	3116	188	7	3	2018	3	CDH8	16	61935209	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	3903581	61935209	28419544	623	12064											
PSKH1	5681	broad.mit.edu	37	chr16	67942865	67942865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccgactgctggccacacGgagcctccctcagaaccacc	8	21	1	1	rs146109328		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:67942865G>A	uc002euv.2	+	2	383	c.213G>A	c.(211-213)ACG>ACA	p.T71T	PSKH1_uc010cet.2_Silent_p.T71T	NM_006742	NP_006733	P11801	KPSH1_HUMAN	protein serine kinase H1	71						endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		CTGGCCACACGGAGCCTCCCT	0.587													A	67942865	G	A	67942865	2	1	15	1	0	0	0	0	0	0	0	1	12664	1103	39	1		1	PSKH1	16	67942865	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	6007656	67942865	22411888	624	12065											
SLC12A4	6560	broad.mit.edu	37	chr16	67986246	67986246	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaaaatggtcccatacAcacgcatattgttcaaagtg	8	9	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:67986246A>G	uc002euz.2	-	7	899	c.758T>C	c.(757-759)GTG>GCG	p.V253A	SLC12A4_uc010ceu.2_Missense_Mutation_p.V247A|SLC12A4_uc010vkh.1_Missense_Mutation_p.V222A|SLC12A4_uc010vki.1_Missense_Mutation_p.V253A|SLC12A4_uc010vkj.1_Missense_Mutation_p.V255A|SLC12A4_uc002eva.2_Missense_Mutation_p.V253A|SLC12A4_uc002evb.2_RNA|SLC12A4_uc010cew.1_3'UTR	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	253	Helical; (Potential).				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGTCCCATACACACGCATATT	0.488													G	67986246	A	G	67986246	3	3	15	1	0	0	0	0	1	0	0	0	14385	159	6	3	2571	3	SLC12A4	16	67986246	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	43381	67986246	22368507	625	12066											
PLA2G15	23659	broad.mit.edu	37	chr16	68293549	68293549	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctatctgaaacgtgtgctcCttgggccctgactcctgtgc	10	14	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:68293549C>A	uc002evr.2	+	6	1311	c.1228C>A	c.(1228-1230)CTT>ATT	p.L410I	PLA2G15_uc010vld.1_3'UTR|PLA2G15_uc010vle.1_Missense_Mutation_p.L316I|PLA2G15_uc010vlf.1_Missense_Mutation_p.L210I|PLA2G15_uc002evs.2_Missense_Mutation_p.L231I	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	lysophospholipase 3 (lysosomal phospholipase A2)	410					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			ovary(1)	1						ACGTGTGCTCCTTGGGCCCTG	0.627													A	68293549	C	A	68293549	3	1	15	1	0	0	0	0	1	0	0	0	11992	681	24	5	1250	5	PLA2G15	16	68293549	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	307303	68293549	22061204	626	12067											
CLEC18A	348174	broad.mit.edu	37	chr16	69996892	69996892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcaggtttggcaactgcGtggagctgcaggcttcagct	14	11	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:69996892G>A	uc010vlo.1	+	12	1345	c.1225G>A	c.(1225-1227)GTG>ATG	p.V409M	CLEC18C_uc002exy.2_Intron|CLEC18A_uc002exz.2_Missense_Mutation_p.V409M|CLEC18A_uc002eya.2_Missense_Mutation_p.V409M	NM_001136214	NP_001129686	A5D8T8	CL18A_HUMAN	secretory protein LOC348174 precursor	409	C-type lectin.					extracellular region	sugar binding				0						TGGCAACTGCGTGGAGCTGCA	0.597													A	69996892	G	A	69996892	3	1	15	1	0	0	0	0	1	0	0	0	3502	1145	40	1	1267	1	CLEC18A	16	69996892	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1703343	69996892	20357861	627	12068											
DDX19A	55308	broad.mit.edu	37	chr16	70395364	70395364	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctatgccatgggcttcaatCgaccctccaagatacaagag	8	12	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:70395364C>A	uc002eyv.2	+	5	408	c.337C>A	c.(337-339)CGA>AGA	p.R113R	DDX19B_uc010vly.1_Intron|DDX19A_uc002eys.2_Silent_p.R114R|DDX19A_uc010cfq.1_5'UTR|DDX19A_uc010cfr.2_5'UTR|DDX19A_uc010cfs.2_5'UTR|DDX19A_uc010vlz.1_Intron|DDX19A_uc010vma.1_Silent_p.R23R	NM_018332	NP_060802	Q9NUU7	DD19A_HUMAN	DDX19-like protein	113	Q motif.				mRNA transport|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding				0		Ovarian(137;0.221)				GGGCTTCAATCGACCCTCCAA	0.478													A	70395364	C	A	70395364	2	1	15	1	0	0	0	0	0	0	0	1	4346	876	31	5		5	DDX19A	16	70395364	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	398472	70395364	19959389	628	12069											
HYDIN	54768	broad.mit.edu	37	chr16	70843797	70843797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttttccggaagtgctggCgtggctttcagatagagctc	14	9	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:70843797C>T	uc002ezr.2	-	85	14897	c.14769G>A	c.(14767-14769)ACG>ACA	p.T4923T	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4924										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				GAAGTGCTGGCGTGGCTTTCA	0.468													T	70843797	C	T	70843797	2	4	15	1	0	0	0	0	0	0	0	1	7467	755	27	1		1	HYDIN	16	70843797	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	448433	70843797	19510956	629	12070											
TAT	6898	broad.mit.edu	37	chr16	71610203	71610203	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggcctcacagaccacctgGcctttctgcctttcattttt	7	14	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:71610203G>T	uc002fap.2	-	2	215	c.116C>A	c.(115-117)GCC>GAC	p.A39D	TAT_uc002faq.2_Missense_Mutation_p.A39D|TAT_uc002far.2_Missense_Mutation_p.A39D	NM_000353	NP_000344	P17735	ATTY_HUMAN	tyrosine aminotransferase	39					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(2)	2		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	AGACCACCTGGCCTTTCTGCC	0.502													T	71610203	G	T	71610203	3	4	15	1	0	0	0	0	1	0	0	0	15587	1203	42	5	1292	5	TAT	16	71610203	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	766406	71610203	18744550	630	12071											
ZNF821	55565	broad.mit.edu	37	chr16	71894307	71894307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgggggtctcattgtcccGccggctcttcttggccgtgc	13	15	3	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:71894307G>A	uc010vmj.1	-	7	1229	c.853C>T	c.(853-855)CGG>TGG	p.R285W	ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.2_Missense_Mutation_p.R135W|ZNF821_uc002fbf.2_Missense_Mutation_p.R243W|ZNF821_uc002fbg.3_Missense_Mutation_p.R135W|ZNF821_uc002fbh.3_Missense_Mutation_p.R243W|ZNF821_uc002fbi.3_Missense_Mutation_p.R82W	NM_017530	NP_060000	O75541	ZN821_HUMAN	zinc finger protein 821	285	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCATTGTCCCGCCGGCTCTTC	0.642													A	71894307	G	A	71894307	3	1	15	1	0	0	0	0	1	0	0	0	18175	1086	38	1	389	1	ZNF821	16	71894307	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	284104	71894307	18460446	631	12072											
MLKL	197259	broad.mit.edu	37	chr16	74729294	74729294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgggtgaaacaggcatgCgttgctcaacctgaagtaac	11	8	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:74729294C>T	uc002fdb.2	-	2	803	c.362G>A	c.(361-363)CGC>CAC	p.R121H	MLKL_uc002fdc.2_Missense_Mutation_p.R121H	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like isoform 1	121							ATP binding|protein binding|protein kinase activity			stomach(2)	2						AACAGGCATGCGTTGCTCAAC	0.512													T	74729294	C	T	74729294	3	4	15	1	0	0	0	0	1	0	0	0	9619	768	27	1	1124	1	MLKL	16	74729294	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2834987	74729294	15625459	632	12073											
WDR59	79726	broad.mit.edu	37	chr16	74908279	74908279	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacactggaacgtgaagcctTtgcagatggcacactgcgtg	12	11	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:74908279T>C	uc002fdh.1	-	26	2855	c.2753A>G	c.(2752-2754)AAA>AGA	p.K918R	WDR59_uc002fdf.1_Missense_Mutation_p.K363R|WDR59_uc002fdg.1_Missense_Mutation_p.K510R	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	918										ovary(1)|breast(1)	2						CGTGAAGCCTTTGCAGATGGC	0.607													C	74908279	T	C	74908279	3	2	15	1	0	0	0	0	1	0	0	0	17305	1841	64	3	175	3	WDR59	16	74908279	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	178985	74908279	15446474	633	12074											
ADAMTS18	170692	broad.mit.edu	37	chr16	77328919	77328919	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacagagagaatgcaacacTgcttcctccttttggaaggg	12	9	0	2	rs140716153		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:77328919T>G	uc002ffc.3	-	19	3326	c.2907A>C	c.(2905-2907)GCA>GCC	p.A969A	ADAMTS18_uc010chc.1_Silent_p.A557A	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	969	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						AATGCAACACTGCTTCCTCCT	0.567													G	77328919	T	G	77328919	2	3	15	1	0	0	0	0	0	0	0	1	263	1567	55	5		5	ADAMTS18	16	77328919	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	2420640	77328919	13025834	634	12075											
KIAA0182	23199	broad.mit.edu	37	chr16	85688453	85688453	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtaccgtgaccgaggactAcctgagaagcttccggccct	11	14	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:85688453A>G	uc002fix.2	+	5	727	c.653A>G	c.(652-654)TAC>TGC	p.Y218C	KIAA0182_uc002fiw.2_Missense_Mutation_p.Y114C|KIAA0182_uc002fiy.2_Missense_Mutation_p.Y145C	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	218							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						ACCGAGGACTACCTGAGAAGC	0.677													G	85688453	A	G	85688453	3	3	15	1	0	0	0	0	1	0	0	0	8159	391	14	3	671	3	KIAA0182	16	85688453	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	8359534	85688453	4666300	635	12076											
FBXO31	79791	broad.mit.edu	37	chr16	87367837	87367837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggtcgggcagctggatcCgatgcctcaggtcgatctcc	14	13	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:87367837C>T	uc002fjw.2	-	8	1096	c.1052G>A	c.(1051-1053)CGG>CAG	p.R351Q	FBXO31_uc010vot.1_Missense_Mutation_p.R179Q|FBXO31_uc002fjv.2_Missense_Mutation_p.R243Q	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	351					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CAGCTGGATCCGATGCCTCAG	0.657													T	87367837	C	T	87367837	3	4	15	1	0	0	0	0	1	0	0	0	5741	652	23	1	575	1	FBXO31	16	87367837	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1679384	87367837	2986916	636	12077											
CTU2	348180	broad.mit.edu	37	chr16	88781126	88781126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctgggcccagcgctgtGgccagggggcctgcaggagg	21	11	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:88781126G>A	uc002flm.2	+	12	1381	c.1333G>A	c.(1333-1335)GGC>AGC	p.G445S	CTU2_uc002fln.2_Missense_Mutation_p.G445S|CTU2_uc010chz.2_Missense_Mutation_p.G516S|CTU2_uc010cia.2_Missense_Mutation_p.G358S	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	cytoplasmic tRNA 2-thiolation protein 2 isoform	445					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			skin(1)	1						CCAGCGCTGTGGCCAGGGGGC	0.697													A	88781126	G	A	88781126	3	1	15	1	0	0	0	0	1	0	0	0	4048	1348	47	4	1379	4	CTU2	16	88781126	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1413289	88781126	1573627	637	12078											
C16orf7	9605	broad.mit.edu	37	chr16	89783208	89783208	+	Frame_Shift_Del	DEL	G	G	-													ttcagcatcttggaggtgtcGgggggcacagtttccccagc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr16:89783208delG	uc002fom.1	-	3	323	c.198delC	c.(196-198)CCCfs	p.P66fs	C16orf7_uc002fol.1_5'UTR|uc002fon.1_RNA|uc002foo.1_Intron	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	66					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TGGAGGTGTCGGGGGGCACAG	0.592													-	89783208	G	-	89783208	7	5	15	1	0	1	0	1	0	0	0	0	1828	1103	39	0	1749	0	C16orf7	16	89783208	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	1002082	89783208	571545	638	12079											
WDR81	124997	broad.mit.edu	37	chr17	1634162	1634162	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtcagggcctgtgctcAgctgcctcctccacatcgcc	10	17	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:1634162A>G	uc002fti.2	+	3	469	c.208A>G	c.(208-210)AGC>GGC	p.S70G	WDR81_uc002fth.2_Missense_Mutation_p.S246G|WDR81_uc010vqp.1_Missense_Mutation_p.S94G|WDR81_uc002ftj.2_Missense_Mutation_p.S1297G|WDR81_uc010vqq.1_5'UTR	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN	WD repeat domain 81 isoform 4	70										skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCTGTGCTCAGCTGCCTCCT	0.637													G	1634162	A	G	1634162	3	3	15	1	0	0	0	0	1	0	0	0	17327	188	7	3	3961	3	WDR81	17	1634162	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08		1634162	79561048	639	12080											
ANKFY1	51479	broad.mit.edu	37	chr17	4098700	4098700	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgtctccctacgtactgTttgcactgcagcagctgact	10	13	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:4098700T>G	uc002fxq.1	-	9	1208	c.1170A>C	c.(1168-1170)AAA>AAC	p.K390N	ANKFY1_uc002fxn.2_Missense_Mutation_p.K432N|ANKFY1_uc002fxo.2_Missense_Mutation_p.K390N|ANKFY1_uc002fxp.2_Missense_Mutation_p.K389N|ANKFY1_uc010ckp.2_Missense_Mutation_p.K331N|ANKFY1_uc002fxr.2_Missense_Mutation_p.K390N	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	390	ANK 5.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						CTACGTACTGTTTGCACTGCA	0.458													G	4098700	T	G	4098700	3	3	15	1	0	0	0	0	1	0	0	0	626	1722	60	5	2502	5	ANKFY1	17	4098700	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	2464538	4098700	77096510	640	12081											
GGT6	124975	broad.mit.edu	37	chr17	4461879	4461879	+	Frame_Shift_Del	DEL	G	G	-													ggtggtgaacaggatgccctGgggcacaggtagctgctctg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:4461879delG	uc002fyd.3	-	4	973	c.913delC	c.(913-915)CAGfs	p.Q305fs	GGT6_uc010vsb.1_Frame_Shift_Del_p.Q157fs|GGT6_uc002fyc.3_Frame_Shift_Del_p.Q273fs|GGT6_uc010vsc.1_Frame_Shift_Del_p.Q311fs	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6 isoform a	305	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			skin(1)	1						AGGATGCCCTGGGGCACAGGT	0.672													-	4461879	G	-	4461879	7	5	15	1	0	1	0	1	0	0	0	0	6363	1357	47	0	572	0	GGT6	17	4461879	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	363179	4461879	76733331	641	12082											
ENO3	2027	broad.mit.edu	37	chr17	4858519	4858519	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaagggggtcatcaaggcCaagtatgggaaggatgccac	14	9	3	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:4858519C>A	uc002gab.3	+	7	688	c.594C>A	c.(592-594)GCC>GCA	p.A198A	ENO3_uc010vsr.1_Silent_p.A105A|ENO3_uc002gac.3_Silent_p.A198A|ENO3_uc010vss.1_Silent_p.A155A|ENO3_uc010vst.1_Silent_p.A34A	NM_053013	NP_443739	P13929	ENOB_HUMAN	enolase 3	198					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			ovary(1)	1						TCATCAAGGCCAAGTATGGGA	0.582													A	4858519	C	A	4858519	2	1	15	1	0	0	0	0	0	0	0	1	5123	581	21	5		5	ENO3	17	4858519	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	396640	4858519	76336691	642	12083											
KIF1C	10749	broad.mit.edu	37	chr17	4927147	4927147	+	Frame_Shift_Del	DEL	C	C	-													aggctccaactccgctccaaCcccctgaggaggtcactccc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:4927147delC	uc002gan.1	+	23	3339	c.3013delC	c.(3013-3015)CCCfs	p.P1005fs		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	1005	Pro-rich.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						TCCGCTCCAACCCCCTGAGGA	0.687													-	4927147	C	-	4927147	7	5	15	1	0	1	0	1	0	0	0	0	8285	507	18	0	3095	0	KIF1C	17	4927147	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	68628	4927147	76268063	643	12084											
FAM64A	54478	broad.mit.edu	37	chr17	6348605	6348605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggctgcccctgagagccGtcaacctcaacctccgcgca	11	17	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:6348605G>A	uc002gcw.1	+	2	224	c.175G>A	c.(175-177)GTC>ATC	p.V59I	FAM64A_uc002gct.1_Missense_Mutation_p.V59I|FAM64A_uc002gcu.1_Missense_Mutation_p.V59I|FAM64A_uc002gcv.1_Missense_Mutation_p.V59I|FAM64A_uc002gcx.1_Missense_Mutation_p.V59I|FAM64A_uc002gcy.1_RNA|FAM64A_uc002gcz.1_RNA|FAM64A_uc002gda.1_Missense_Mutation_p.V59I|FAM64A_uc002gdb.1_Missense_Mutation_p.V59I	NM_019013	NP_061886	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	59						nucleolus	protein binding				0				COAD - Colon adenocarcinoma(228;0.141)		CCTGAGAGCCGTCAACCTCAA	0.647													A	6348605	G	A	6348605	3	1	15	1	0	0	0	0	1	0	0	0	5598	1145	40	1	177	1	FAM64A	17	6348605	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1421458	6348605	74846605	644	12085											
CNTROB	116840	broad.mit.edu	37	chr17	7852809	7852810	+	Frame_Shift_Ins	INS	-	-	G													ccgagtagcatgaggagccgINSggggggagtctggagatgag					rs35508310		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:7852808_7852809C>CG	uc002gjp.3	+	19	3708_3709	c.2758_2759C>CG	c.(2758-2760)cggfs	p.R920fs	CNTROB_uc002gjq.3_Frame_Shift_Ins_p.R898fs|CNTROB_uc002gjr.3_Frame_Shift_Ins_p.R801fs	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	898					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CATGAGGAGCCGGGGGGGAGTC	0.55													G	7852810	-	G	7852809	7	5	15	1	0	1	1	0	0	0	0	0	3651	1116	39	0	2833	0	CNTROB	17	7852809	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	1504204	7852809	73342401	645	12086											
MYH10	4628	broad.mit.edu	37	chr17	8383818	8383818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgatccgagcttccagacGccgcttctcatccagcagcg	10	16	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:8383818G>A	uc002gll.2	-	37	5293	c.5197C>T	c.(5197-5199)CGT>TGT	p.R1733C	MYH10_uc002glm.2_Missense_Mutation_p.R1764C|MYH10_uc010cnx.2_Missense_Mutation_p.R1742C	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1733	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						GCTTCCAGACGCCGCTTCTCA	0.567													A	8383818	G	A	8383818	3	1	15	1	0	0	0	0	1	0	0	0	10030	1087	38	1	753	1	MYH10	17	8383818	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	531009	8383818	72811392	646	12087											
PIK3R6	146850	broad.mit.edu	37	chr17	8707380	8707380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccacatccctgaaagtgCgttgatcgtccttgtccagc	9	13	0	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:8707380C>T	uc002glq.1	-	20	2327	c.2087G>A	c.(2086-2088)CGC>CAC	p.R696H	PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	696					platelet activation	cytosol					0						CCTGAAAGTGCGTTGATCGTC	0.587													T	8707380	C	T	8707380	3	4	15	1	0	0	0	0	1	0	0	0	11923	768	27	1	185	1	PIK3R6	17	8707380	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	323562	8707380	72487830	647	12088											
FLCN	201163	broad.mit.edu	37	chr17	17131329	17131329	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttcttccgcctgctcaccCtggccaggactgtcctcatt	7	17	4	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:17131329C>A	uc002gra.3	-	4	627	c.123G>T	c.(121-123)CAG>CAT	p.Q41H	PLD6_uc010cpn.2_RNA|FLCN_uc002grb.3_Missense_Mutation_p.Q41H|FLCN_uc002grc.2_Missense_Mutation_p.Q41H	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	folliculin isoform 1	41					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						CCTGCTCACCCTGGCCAGGAC	0.657									Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer				A	17131329	C	A	17131329	3	1	15	1	0	0	0	0	1	0	0	0	5921	680	24	5	1818	5	FLCN	17	17131329	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	8423949	17131329	64063881	648	12089											
LRRC48	83450	broad.mit.edu	37	chr17	17898358	17898358	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccttcctgtttgacagcAtgtacgctgaggactcagag	11	11	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:17898358A>G	uc010vxd.1	+	9	1136	c.757A>G	c.(757-759)ATG>GTG	p.M253V	LRRC48_uc002gsa.2_Missense_Mutation_p.M253V|LRRC48_uc010vxc.1_Missense_Mutation_p.M253V|LRRC48_uc002gsb.2_Missense_Mutation_p.M253V|LRRC48_uc010vxe.1_5'Flank	NM_001130090	NP_001123562	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48 isoform a	253						cytoplasm				pancreas(1)	1	all_neural(463;0.228)					GTTTGACAGCATGTACGCTGA	0.517													G	17898358	A	G	17898358	3	3	15	1	0	0	0	0	1	0	0	0	9005	217	8	3	779	3	LRRC48	17	17898358	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	767029	17898358	63296852	649	12090											
DRG2	1819	broad.mit.edu	37	chr17	18005286	18005286	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaggtggaccgcctggccCgaaaacccaacagtgtggtc	13	12	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:18005286C>T	uc002gsh.1	+	9	836	c.781C>T	c.(781-783)CGA>TGA	p.R261*	DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Nonsense_Mutation_p.R261*	NM_001388	NP_001379	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	261					signal transduction		GTP binding			ovary(1)	1	all_neural(463;0.228)					CCGCCTGGCCCGAAAACCCAA	0.577													T	18005286	C	T	18005286	4	4	15	1	0	0	0	0	0	1	0	0	4762	644	23	1	815	1	DRG2	17	18005286	Nonsense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	106928	18005286	63189924	650	12091											
USP22	23326	broad.mit.edu	37	chr17	20907606	20907606	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgctgccggataaagcTggtgtagtggccactctcca	12	10	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:20907606T>G	uc002gym.3	-	12	1648	c.1444A>C	c.(1444-1446)AGC>CGC	p.S482R	USP22_uc002gyn.3_Missense_Mutation_p.S470R|USP22_uc002gyl.3_Missense_Mutation_p.S377R	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	ubiquitin thiolesterase 22	482					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1						CGGATAAAGCTGGTGTAGTGG	0.547													G	20907606	T	G	20907606	3	3	15	1	0	0	0	0	1	0	0	0	17051	1580	55	5	141	5	USP22	17	20907606	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	2902320	20907606	60287604	651	12092											
KSR1	8844	broad.mit.edu	37	chr17	25909717	25909717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggagttcattggatgcgcGgcgggaaagtggctcagggc	18	7	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:25909717G>A	uc010crg.2	+	5	600	c.155G>A	c.(154-156)CGG>CAG	p.R52Q	KSR1_uc002gzj.1_Intron	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras	187					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TTGGATGCGCGGCGGGAAAGT	0.642													A	25909717	G	A	25909717	3	1	15	1	0	0	0	0	1	0	0	0	8581	1116	39	1	161	1	KSR1	17	25909717	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	5002111	25909717	55285493	652	12093											
SLC13A2	9058	broad.mit.edu	37	chr17	26821457	26821457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcctcctcgactggaagaCggtgaaccagaagatgccgt	13	11	0	4	rs141214124		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:26821457C>T	uc002hbh.2	+	9	1302	c.1235C>T	c.(1234-1236)ACG>ATG	p.T412M	SLC13A2_uc010wam.1_Missense_Mutation_p.T368M|SLC13A2_uc010wan.1_Missense_Mutation_p.T461M|SLC13A2_uc010wao.1_Missense_Mutation_p.T369M|SLC13A2_uc002hbi.2_Missense_Mutation_p.T341M	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	412						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GACTGGAAGACGGTGAACCAG	0.577											OREG0024276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	26821457	C	T	26821457	3	4	15	1	0	0	0	0	1	0	0	0	14392	536	19	1	1416	1	SLC13A2	17	26821457	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	911740	26821457	54373753	653	12094											
RPL23A	6147	broad.mit.edu	37	chr17	27047808	27047810	+	In_Frame_Del	DEL	AAG	AAG	-													aaggtgtccacagccacaaaAagaagaagatccgcacgtca							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:27047808_27047810delAAG	uc002hci.2	+	2	133_135	c.109_111delAAG	c.(109-111)AAGdel	p.K39del	RAB34_uc002hce.2_5'Flank|RAB34_uc002hcg.2_5'Flank|RAB34_uc002hcf.2_5'Flank|RAB34_uc010was.1_5'Flank|RAB34_uc010wat.1_5'Flank|RAB34_uc002hch.2_5'Flank|RAB34_uc010wau.1_5'Flank|RAB34_uc010wav.1_5'Flank|RPL23A_uc002hck.1_RNA|SNORD4A_uc002hcl.2_5'Flank|SNORD42A_uc002hcm.1_5'Flank|SNORD4B_uc002hcn.1_5'Flank	NM_000984	NP_000975	P62750	RL23A_HUMAN	ribosomal protein L23a	39					cell proliferation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	nucleotide binding|protein binding|rRNA binding|structural constituent of ribosome			ovary(1)	1	Lung NSC(42;0.00431)					CAGCCACAAAAAGAAGAAGATCC	0.547											OREG0024282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	27047810	AAG	-	27047808	7	5	15	1	0	1	0	1	0	0	0	0	13571	15	1	0	115	0	RPL23A	17	27047808	In_Frame_Del	DEL	AAG	TCGA-BR-4280-01A-01D-1126-08	226351	27047808	54147402	654	12095											
MYO1D	4642	broad.mit.edu	37	chr17	31087632	31087632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacgatccaacaaaaaaggCgctcatatattgcctgcaag	7	10	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:31087632C>T	uc002hho.1	-	9	1061	c.1049G>A	c.(1048-1050)CGC>CAC	p.R350H	MYO1D_uc002hhp.1_Missense_Mutation_p.R350H|MYO1D_uc010wcb.1_Missense_Mutation_p.R350H	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	350	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACAAAAAAGGCGCTCATATAT	0.383													T	31087632	C	T	31087632	3	4	15	1	0	0	0	0	1	0	0	0	10071	768	27	1	2027	1	MYO1D	17	31087632	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	4039824	31087632	50107578	655	12096											
TMEM98	26022	broad.mit.edu	37	chr17	31260227	31260227	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattggtgccatggagacccAgtctgagccctctgagttag	12	11	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:31260227A>G	uc002hhq.2	+	4	625	c.167A>G	c.(166-168)CAG>CGG	p.Q56R	TMEM98_uc002hhr.2_Missense_Mutation_p.Q56R	NM_015544	NP_056359	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	56						endoplasmic reticulum|integral to membrane					0		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			ATGGAGACCCAGTCTGAGCCC	0.527													G	31260227	A	G	31260227	3	3	15	1	0	0	0	0	1	0	0	0	16222	188	7	3	173	3	TMEM98	17	31260227	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	172595	31260227	49934983	656	12097											
SLFN11	91607	broad.mit.edu	37	chr17	33679651	33679651	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgcggtgctgacaagcacAgcaacatcctttggagaata	10	9	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:33679651A>G	uc010ctp.2	-	7	2872	c.2430T>C	c.(2428-2430)GCT>GCC	p.A810A	SLFN11_uc010ctq.2_Silent_p.A810A|SLFN11_uc002hjh.3_Silent_p.A810A|SLFN11_uc002hjg.3_Silent_p.A810A|SLFN11_uc010ctr.2_Silent_p.A810A	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	810						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGACAAGCACAGCAACATCCT	0.453													G	33679651	A	G	33679651	2	3	15	1	0	0	0	0	0	0	0	1	14733	175	7	3		3	SLFN11	17	33679651	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	2419424	33679651	47515559	657	12098											
MYO19	80179	broad.mit.edu	37	chr17	34862834	34862834	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccaggcctgctgtgtggtAccgcacaggccccgcataat	11	15	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:34862834A>G	uc010wcy.1	-	18	2604	c.1612T>C	c.(1612-1614)TAC>CAC	p.Y538H	MYO19_uc002hmw.2_Intron|MYO19_uc010cuu.2_RNA|MYO19_uc010wcz.1_RNA	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	myosin XIX isoform 2	538	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)	1		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCTGTGTGGTACCGCACAGGC	0.612													G	34862834	A	G	34862834	3	3	15	1	0	0	0	0	1	0	0	0	10067	391	14	3	1340	3	MYO19	17	34862834	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1183183	34862834	46332376	658	12099											
LHX1	3975	broad.mit.edu	37	chr17	35298059	35298059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccaagcggcggggaccgCgcaccaccatcaaagccaag	13	16	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:35298059C>T	uc002hnh.1	+	3	1546	c.550C>T	c.(550-552)CGC>TGC	p.R184C	LHX1_uc010cux.1_Missense_Mutation_p.R92C	NM_005568	NP_005559	P48742	LHX1_HUMAN	LIM homeobox protein 1	184	Homeobox.			R -> G (in Ref. 1; AAA21644).	cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(25;0.00607)				GCGGGGACCGCGCACCACCAT	0.662													T	35298059	C	T	35298059	3	4	15	1	0	0	0	0	1	0	0	0	8770	768	27	1	560	1	LHX1	17	35298059	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	435225	35298059	45897151	659	12100											
SRCIN1	80725	broad.mit.edu	37	chr17	36707421	36707421	+	Frame_Shift_Del	DEL	G	G	-													cctcccactgggctccgttcGgggggctgccttctggccgt							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:36707421delG	uc002hqd.2	-	15	3157	c.2932delC	c.(2932-2934)CGAfs	p.R978fs	SRCIN1_uc002hqf.1_Frame_Shift_Del_p.R850fs|SRCIN1_uc002hqe.2_Frame_Shift_Del_p.R832fs	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	850	Pro-rich.			R -> K (in Ref. 6; AA sequence).	exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						GGCTCCGTTCGGGGGGCTGCC	0.687													-	36707421	G	-	36707421	7	5	15	1	0	1	0	1	0	0	0	0	15135	1124	39	0	639	0	SRCIN1	17	36707421	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	1409362	36707421	44487789	660	12101											
CWC25	54883	broad.mit.edu	37	chr17	36958376	36958376	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagttcttctccagagctAccgaagttctctgtaaagag	8	9	3	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:36958376A>G	uc002hqu.2	-	10	1400	c.1247T>C	c.(1246-1248)GTA>GCA	p.V416A	CWC25_uc010wdv.1_Missense_Mutation_p.V353A|PIP4K2B_uc002hqs.2_5'Flank|PIP4K2B_uc010wdt.1_5'Flank	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	coiled-coil domain containing 49	416											0						CTCCAGAGCTACCGAAGTTCT	0.458													G	36958376	A	G	36958376	3	3	15	1	0	0	0	0	1	0	0	0	4069	391	14	3	34	3	CWC25	17	36958376	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	250955	36958376	44236834	661	12102											
NR1D1	9572	broad.mit.edu	37	chr17	38252308	38252309	+	Frame_Shift_Del	DEL	TC	TC	-													ctcagcaagcatccgctgctTctctcgtttggggatgcgcc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:38252308_38252309delTC	uc002htz.1	-	5	1262_1263	c.636_637delGA	c.(634-639)GAGAAGfs	p.E212fs	NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_Intron	NM_021724	NP_068370	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	212_213					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			skin(1)	1	Colorectal(19;0.000442)					ATCCGCTGCTTCTCTCGTTTGG	0.564													-	38252309	TC	-	38252308	7	5	15	1	0	1	0	1	0	0	0	0	10615	1792	62	0	1223	0	NR1D1	17	38252308	Frame_Shift_Del	DEL	TC	TCGA-BR-4280-01A-01D-1126-08	1293932	38252308	42942902	662	12103											
KRT10	3858	broad.mit.edu	37	chr17	38978786	38978786	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctcctcctcctcctcCtccactgcgggaggaagagt	8	18	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:38978786C>A	uc002hvi.2	-	1	78	c.52G>T	c.(52-54)GGA>TGA	p.G18*	KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	keratin 10	18	Head.|Gly-rich.				epidermis development		protein binding|structural constituent of epidermis				0		Breast(137;0.000301)				cctcctcctcctccACTGCGG	0.408													A	38978786	C	A	38978786	4	1	15	1	0	0	0	0	0	1	0	0	8448	690	24	5	1734	5	KRT10	17	38978786	Nonsense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	726478	38978786	42216424	663	12104											
KRT39	390792	broad.mit.edu	37	chr17	39123064	39123064	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctagagcagttttgacaTggggttgaaggagaattggt	14	4	0	4			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:39123064T>C	uc002hvo.1	-	1	81	c.45A>G	c.(43-45)CCA>CCG	p.P15P	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	15	Head.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)				AGTTTTGACATGGGGTTGAAG	0.473													C	39123064	T	C	39123064	2	2	15	1	0	0	0	0	0	0	0	1	8476	1451	51	3		3	KRT39	17	39123064	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	144278	39123064	42072146	664	12105											
DNAJC7	7266	broad.mit.edu	37	chr17	40152526	40152526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttgtataataattataaGcttcattgtaatctttcttg	4	5	3	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:40152526G>A	uc002hyo.2	-	2	377	c.140C>T	c.(139-141)GCT>GTT	p.A47V	DNAJC7_uc010wgb.1_5'UTR|DNAJC7_uc010wgc.1_5'UTR|DNAJC7_uc002hyp.2_Intron|DNAJC7_uc010cxw.2_RNA	NM_003315	NP_003306	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	47	TPR 1.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			ovary(1)	1		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				ATAATTATAAGCTTCATTGTA	0.328													A	40152526	G	A	40152526	3	1	15	1	0	0	0	0	1	0	0	0	4654	971	34	2	1396	2	DNAJC7	17	40152526	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1029462	40152526	41042684	665	12106											
MEOX1	4222	broad.mit.edu	37	chr17	41719304	41719304	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaacttggagaggctgtggAgtccccatcctcagggtcct	13	11	1	2	rs78282512		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:41719304A>C	uc002idz.2	-	3	768	c.739T>G	c.(739-741)TCC>GCC	p.S247A	MEOX1_uc002iea.2_3'UTR|MEOX1_uc002ieb.2_Missense_Mutation_p.S132A	NM_004527	NP_004518	P50221	MEOX1_HUMAN	mesenchyme homeobox 1 isoform 1	247						nucleus	sequence-specific DNA binding				0		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GAGGCTGTGGAGTCCCCATCC	0.562													C	41719304	A	C	41719304	3	2	15	1	0	0	0	0	1	0	0	0	9473	304	11	5	29	5	MEOX1	17	41719304	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1566778	41719304	39475906	666	12107											
SOST	50964	broad.mit.edu	37	chr17	41835990	41835990	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaggctcggggtactctccGagctcggggatgatttccgt	16	10	1	1	rs149814744		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:41835990G>A	uc002iec.1	-	1	167	c.120C>T	c.(118-120)CTC>CTT	p.L40L		NM_025237	NP_079513	Q9BQB4	SOST_HUMAN	sclerostin precursor	40					negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding				0		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		GGTACTCTCCGAGCTCGGGGA	0.617													A	41835990	G	A	41835990	2	1	15	1	0	0	0	0	0	0	0	1	14938	1045	37	1		1	SOST	17	41835990	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	116686	41835990	39359220	667	12108											
SLC4A1	6521	broad.mit.edu	37	chr17	42328633	42328633	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaggccggcgtggacttcAccacccacagcactgccagg	14	15	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:42328633A>G	uc002igf.3	-	19	2698	c.2549T>C	c.(2548-2550)GTG>GCG	p.V850A		NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	850	Helical; (Potential).|Membrane (anion exchange).		Missing (in AR-dRTA).		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CGTGGACTTCACCACCCACAG	0.637													G	42328633	A	G	42328633	3	3	15	1	0	0	0	0	1	0	0	0	14650	159	6	3	194	3	SLC4A1	17	42328633	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	492643	42328633	38866577	668	12109											
GPATCH8	23131	broad.mit.edu	37	chr17	42483368	42483368	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttctcatccttgcgggAtcttgaagagacatttcgag	9	8	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:42483368A>G	uc002igw.1	-	7	608	c.544T>C	c.(544-546)TCC>CCC	p.S182P	GPATCH8_uc002igv.1_Missense_Mutation_p.S104P|GPATCH8_uc010wiz.1_Missense_Mutation_p.S104P	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	182						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TCCTTGCGGGATCTTGAAGAG	0.408													G	42483368	A	G	42483368	3	3	15	1	0	0	0	0	1	0	0	0	6594	333	12	3	3972	3	GPATCH8	17	42483368	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	154735	42483368	38711842	669	12110											
SGCA	6442	broad.mit.edu	37	chr17	48245314	48245314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccatcccccaggtcacaGcctacaatcgggacagcttt	7	16	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:48245314G>A	uc002iqi.2	+	4	355	c.319G>A	c.(319-321)GCC>ACC	p.A107T	SGCA_uc010wmh.1_Missense_Mutation_p.A5T|SGCA_uc002iqj.2_Missense_Mutation_p.A107T|SGCA_uc010wmi.1_RNA	NM_000023	NP_000014	Q16586	SGCA_HUMAN	sarcoglycan, alpha isoform 1 precursor	107	Extracellular (Potential).				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(2)	2						CCAGGTCACAGCCTACAATCG	0.577													A	48245314	G	A	48245314	3	1	15	1	0	0	0	0	1	0	0	0	14199	971	34	2	333	2	SGCA	17	48245314	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	5761946	48245314	32949896	670	12111											
TMEM92	162461	broad.mit.edu	37	chr17	48356598	48356598	+	Frame_Shift_Del	DEL	C	C	-													gcccaactcccacagagccaCcccctccctacagcttcagg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:48356597_48356597AC>A	uc002iqn.2	+	5	518	c.408_408AC>A	c.(406-408)ccafs	p.P136fs	TMEM92_uc021tzz.1_Frame_Shift_Del_p.P136fs	NM_001168215	NP_694961	Q6UXU6	TMM92_HUMAN	Homo sapiens transmembrane protein 92 (TMEM92), transcript variant 2, mRNA.	136	Pro-rich.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						CCACAGAGCCACCCCCTCCCT	0.597													-	48356598	C	-	48356598	7	5	15	1	0	1	0	1	0	0	0	0	16218	507	18	0	427	0	TMEM92	17	48356598	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	111284	48356598	32838612	671	12112											
LRRC59	55379	broad.mit.edu	37	chr17	48462519	48462519	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttaggtttcttctcctgCtcccgcttggctgctttgag	9	12	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:48462519C>T	uc002iqt.2	-	6	790	c.636G>A	c.(634-636)GAG>GAA	p.E212E		NM_018509	NP_060979	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	212	Potential.|Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			central_nervous_system(1)	1	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TCTTCTCCTGCTCCCGCTTGG	0.542													T	48462519	C	T	48462519	2	4	15	1	0	0	0	0	0	0	0	1	9015	796	28	2		2	LRRC59	17	48462519	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	105921	48462519	32732691	672	12113											
SPATA20	64847	broad.mit.edu	37	chr17	48631632	48631632	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaggatggagcagagcccAgcgccaattccgtgtcagcc	12	14	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:48631632A>G	uc002irf.2	+	14	2071	c.1930A>G	c.(1930-1932)AGC>GGC	p.S644G	SPATA20_uc002irc.2_Missense_Mutation_p.S311G|SPATA20_uc002ire.2_Missense_Mutation_p.S600G|SPATA20_uc002ird.2_Missense_Mutation_p.S660G|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	644					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			AGCAGAGCCCAGCGCCAATTC	0.612													G	48631632	A	G	48631632	3	3	15	1	0	0	0	0	1	0	0	0	15005	188	7	3	2036	3	SPATA20	17	48631632	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	169113	48631632	32563578	673	12114											
CACNA1G	8913	broad.mit.edu	37	chr17	48678110	48678110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggggaacgggtccgcgcGtggatccgagcccgactccc	15	14	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:48678110G>A	uc002irk.1	+	18	4086	c.3714G>A	c.(3712-3714)GCG>GCA	p.A1238A	CACNA1G_uc002iri.1_Silent_p.A1238A|CACNA1G_uc002irj.1_Silent_p.A1215A|CACNA1G_uc002irl.1_Silent_p.A1215A|CACNA1G_uc002irm.1_Silent_p.A1215A|CACNA1G_uc002irn.1_Silent_p.A1215A|CACNA1G_uc002iro.1_Silent_p.A1215A|CACNA1G_uc002irp.1_Silent_p.A1238A|CACNA1G_uc002irq.1_Silent_p.A1215A|CACNA1G_uc002irr.1_Silent_p.A1238A|CACNA1G_uc002irs.1_Silent_p.A1238A|CACNA1G_uc002irt.1_Silent_p.A1238A|CACNA1G_uc002irv.1_Silent_p.A1238A|CACNA1G_uc002irw.1_Silent_p.A1215A|CACNA1G_uc002iru.1_Silent_p.A1215A|CACNA1G_uc002irx.1_Silent_p.A1151A|CACNA1G_uc002iry.1_Silent_p.A1151A|CACNA1G_uc002irz.1_Silent_p.A1151A|CACNA1G_uc002isa.1_Silent_p.A1151A|CACNA1G_uc002isb.1_Silent_p.A1151A|CACNA1G_uc002isc.1_Silent_p.A1151A|CACNA1G_uc002isd.1_Silent_p.A1151A|CACNA1G_uc002ise.1_Silent_p.A1151A|CACNA1G_uc002isf.1_Silent_p.A1151A|CACNA1G_uc002isg.1_Silent_p.A1151A|CACNA1G_uc002ish.1_Silent_p.A1151A|CACNA1G_uc002isi.1_Silent_p.A1128A|CACNA1G_uc002isj.2_Translation_Start_Site	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1238	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGTCCGCGCGTGGATCCGAG	0.632													A	48678110	G	A	48678110	2	1	15	1	0	0	0	0	0	0	0	1	2544	1132	40	1		1	CACNA1G	17	48678110	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	46478	48678110	32517100	674	12115											
MPO	4353	broad.mit.edu	37	chr17	56355248	56355248	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagacaggggtcatcgtgcaGgttgtcaaagggcagcaggg	18	7	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:56355248G>T	uc002ivu.1	-	7	1321	c.1144C>A	c.(1144-1146)CTG>ATG	p.L382M		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	382					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)	TCATCGTGCAGGTTGTCAAAG	0.642													T	56355248	G	T	56355248	3	4	15	1	0	0	0	0	1	0	0	0	9732	991	35	5	1117	5	MPO	17	56355248	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	7677138	56355248	24839962	675	12116											
RNFT1	51136	broad.mit.edu	37	chr17	58033900	58033900	+	Frame_Shift_Del	DEL	A	A	-													ctgaaagttctcagatgcccAaaaaattccaaaagctgaaa							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:58033900delA	uc002iya.2	-	7	1113	c.1020delT	c.(1018-1020)TTTfs	p.F340fs	RNFT1_uc002iyb.2_RNA|RNFT1_uc002iyc.2_Frame_Shift_Del_p.F78fs	NM_016125	NP_057209	Q5M7Z0	RNFT1_HUMAN	PTD016 protein	340	Helical; (Potential).					integral to membrane	zinc ion binding				0	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			TCAGATGCCCAAAAAATTCCA	0.323													-	58033900	A	-	58033900	7	5	15	1	0	1	0	1	0	0	0	0	13501	127	5	0	299	0	RNFT1	17	58033900	Frame_Shift_Del	DEL	A	TCGA-BR-4280-01A-01D-1126-08	1678652	58033900	23161310	676	12117											
DDX42	11325	broad.mit.edu	37	chr17	61889307	61889307	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggcaaatgaagatgtgAcacagattgtggagattctc	11	7	2	5			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:61889307A>G	uc002jbu.2	+	15	1671	c.1414A>G	c.(1414-1416)ACA>GCA	p.T472A	DDX42_uc002jbv.2_Missense_Mutation_p.T472A|DDX42_uc002jbw.1_Missense_Mutation_p.T208A|DDX42_uc002jbx.2_Missense_Mutation_p.T208A|DDX42_uc002jby.2_Missense_Mutation_p.T18A	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	472					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)|large_intestine(1)	5						TGAAGATGTGACACAGATTGT	0.453													G	61889307	A	G	61889307	3	3	15	1	0	0	0	0	1	0	0	0	4362	275	10	3	1464	3	DDX42	17	61889307	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	3855407	61889307	19305903	677	12118											
BPTF	2186	broad.mit.edu	37	chr17	65944394	65944394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagaagagagcactccTggacaaggatctgcaaattg	11	9	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:65944394T>C	uc002jgf.2	+	23	7959	c.7898T>C	c.(7897-7899)CTG>CCG	p.L2633P	BPTF_uc002jge.2_Missense_Mutation_p.L2616P|BPTF_uc002jgg.2_Missense_Mutation_p.L290P|BPTF_uc002jgh.2_Missense_Mutation_p.L92P	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2759					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGAGCACTCCTGGACAAGGAT	0.478													C	65944394	T	C	65944394	3	2	15	1	0	0	0	0	1	0	0	0	1495	1580	55	3	8374	3	BPTF	17	65944394	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	4055087	65944394	15250816	678	12119											
OTOP3	347741	broad.mit.edu	37	chr17	72943232	72943232	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgcactgggccagatgGgcatcgcctatttctccatc	11	13	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:72943232G>T	uc010wrr.1	+	6	1282	c.1282G>T	c.(1282-1284)GGC>TGC	p.G428C	OTOP3_uc010wrq.1_Missense_Mutation_p.G410C	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	428	Helical; (Potential).					integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)					GGGCCAGATGGGCATCGCCTA	0.612													T	72943232	G	T	72943232	3	4	15	1	0	0	0	0	1	0	0	0	11307	1232	43	5	1304	5	OTOP3	17	72943232	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	6998838	72943232	8251978	679	12120											
ITGB4	3691	broad.mit.edu	37	chr17	73748363	73748363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctacacggtgaaggcgcGcaacggggccggctgggggc	19	13	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:73748363G>A	uc002jpg.2	+	31	4089	c.3902G>A	c.(3901-3903)CGC>CAC	p.R1301H	ITGB4_uc002jph.2_Missense_Mutation_p.R1301H|ITGB4_uc002jpi.3_Missense_Mutation_p.R1301H|ITGB4_uc002jpj.2_Missense_Mutation_p.R1301H|GALK1_uc010wsi.1_Intron	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1301	Fibronectin type-III 2.|Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGAAGGCGCGCAACGGGGCC	0.637													A	73748363	G	A	73748363	3	1	15	1	0	0	0	0	1	0	0	0	7897	1087	38	1	4020	1	ITGB4	17	73748363	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	805131	73748363	7446847	680	12121											
ITGB4	3691	broad.mit.edu	37	chr17	73750720	73750720	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaactccctgcacaggaTgaccacgaccagtgctgctg	9	16	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:73750720T>C	uc002jpg.2	+	34	4569	c.4382T>C	c.(4381-4383)ATG>ACG	p.M1461T	ITGB4_uc002jph.2_Missense_Mutation_p.M1391T|ITGB4_uc002jpi.3_Missense_Mutation_p.M1391T|ITGB4_uc002jpj.2_Missense_Mutation_p.M1391T|GALK1_uc010wsi.1_Intron	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1461	Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGCACAGGATGACCACGACC	0.637													C	73750720	T	C	73750720	3	2	15	1	0	0	0	0	1	0	0	0	7897	1464	51	3	4512	3	ITGB4	17	73750720	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	2357	73750720	7444490	681	12122											
UNK	85451	broad.mit.edu	37	chr17	73814802	73814803	+	Frame_Shift_Ins	INS	-	-	C													acctccagcctggcagctacINScccccctagcccagtgggca							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:73814801_73814802A>AC	uc002jpm.3	+	11	1678_1679	c.1678_1679A>AC	c.(1678-1680)accfs	p.T560fs	UNK_uc021udd.1_Frame_Shift_Ins_p.T484fs	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA.	484							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGGCAGCTACCCCCCCTAGC	0.614													C	73814803	-	C	73814802	7	5	15	1	0	1	1	0	0	0	0	0	16997	507	18	0	1725	0	UNK	17	73814802	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	64082	73814802	7380408	682	12123											
TRIM65	201292	broad.mit.edu	37	chr17	73888350	73888350	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgagccctcgcacctGcaggaaggtctgctcatcca	10	16	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:73888350G>A	uc002jpx.2	-	3	778	c.742C>T	c.(742-744)CAG>TAG	p.Q248*		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	tripartite motif-containing 65	248						intracellular	zinc ion binding				0			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTCGCACCTGCAGGAAGGTC	0.647													A	73888350	G	A	73888350	4	1	15	1	0	0	0	0	0	1	0	0	16536	1328	46	2	827	2	TRIM65	17	73888350	Nonsense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	73548	73888350	7306860	683	12124											
EXOC7	23265	broad.mit.edu	37	chr17	74097459	74097459	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccagcctacctgtggggcTgggaaagaaaagagccaggt	14	9	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:74097459T>C	uc002jqs.2	-	4	407	c.312_splice	c.e4-1	p.G104_splice	EXOC7_uc010dgv.1_Splice_Site_p.G51_splice|EXOC7_uc002jqq.2_Splice_Site_p.G104_splice|EXOC7_uc010wsw.1_Splice_Site_p.G104_splice|EXOC7_uc010wsx.1_Splice_Site_p.G104_splice|EXOC7_uc002jqr.2_Splice_Site_p.G104_splice|EXOC7_uc010wsv.1_Splice_Site_p.G63_splice|EXOC7_uc002jqu.2_Splice_Site_p.G104_splice|EXOC7_uc002jqv.2_Intron	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4						exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			CCTGTGGGGCTGGGAAAGAAA	0.522													C	74097459	T	C	74097459	5	2	15	1	0	0	0	0	0	0	1	0	5310	1594	55	3	1965	3	EXOC7	17	74097459	Splice_Site	SNP	T	TCGA-BR-4280-01A-01D-1126-08	209109	74097459	7097751	684	12125											
PGS1	9489	broad.mit.edu	37	chr17	76395508	76395508	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagtctccctctttcacacGccgcacctccgtgggctgct	9	18	3	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:76395508G>A	uc002jvm.2	+	5	603	c.591G>A	c.(589-591)ACG>ACA	p.T197T	PGS1_uc010wtt.1_RNA|PGS1_uc010dho.2_RNA|PGS1_uc002jvn.2_5'UTR|PGS1_uc002jvo.2_RNA|PGS1_uc002jvp.1_5'Flank	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	197					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TCTTTCACACGCCGCACCTCC	0.597													A	76395508	G	A	76395508	2	1	15	1	0	0	0	0	0	0	0	1	11808	1074	38	1		1	PGS1	17	76395508	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	2298049	76395508	4799702	685	12126											
ENGASE	64772	broad.mit.edu	37	chr17	77073557	77073557	+	Frame_Shift_Del	DEL	T	T	-													gtctttcgagaggtggtcagTttttccccggaccccctgcc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:77073557delT	uc002jwv.2	+	2	200	c.192delT	c.(190-192)AGTfs	p.S64fs	ENGASE_uc002jwu.1_Frame_Shift_Del_p.S64fs|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.2_5'Flank	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	64						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			skin(1)	1						AGGTGGTCAGTTTTTCCCCGG	0.493													-	77073557	T	-	77073557	7	5	15	1	0	1	0	1	0	0	0	0	5118	1722	60	0	198	0	ENGASE	17	77073557	Frame_Shift_Del	DEL	T	TCGA-BR-4280-01A-01D-1126-08	678049	77073557	4121653	686	12127											
TBC1D16	125058	broad.mit.edu	37	chr17	77922698	77922698	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccacattgggattgtctTccccccggaagaactggttg	10	12	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:77922698T>C	uc002jxj.2	-	8	1630	c.1514A>G	c.(1513-1515)GAA>GGA	p.E505G	TBC1D16_uc002jxh.2_Missense_Mutation_p.E143G|TBC1D16_uc002jxi.2_Missense_Mutation_p.E130G|TBC1D16_uc002jxk.1_Missense_Mutation_p.E143G	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	505	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GGGATTGTCTTCCCCCCGGAA	0.567													C	77922698	T	C	77922698	3	2	15	1	0	0	0	0	1	0	0	0	15602	1783	62	3	809	3	TBC1D16	17	77922698	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	849141	77922698	3272512	687	12128											
RNF213	57674	broad.mit.edu	37	chr17	78321528	78321528	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccagaagtacgtggacctCggtctggggacccaccgcgt	15	13	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:78321528C>T	uc002jyh.1	+	4	3835	c.3612C>T	c.(3610-3612)CTC>CTT	p.L1204L		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACGTGGACCTCGGTCTGGGGA	0.557													T	78321528	C	T	78321528	2	4	15	1	0	0	0	0	0	0	0	1	13477	871	31	1		1	RNF213	17	78321528	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	398830	78321528	2873682	688	12129											
C17orf101	79701	broad.mit.edu	37	chr17	80369341	80369341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcggttacctgcgaatccGctccgcttcctccctggtga	11	15	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr17:80369341G>A	uc002keu.1	-	3	471	c.370C>T	c.(370-372)CGG>TGG	p.R124W	C17orf101_uc002ket.1_Missense_Mutation_p.R124W|C17orf101_uc010dip.1_RNA	NM_024648	NP_078924	Q6PK18	CQ101_HUMAN	hypothetical protein LOC79701 isoform 1	124	Lumenal (Potential).					integral to membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(1)	1						CTGCGAATCCGCTCCGCTTCC	0.587													A	80369341	G	A	80369341	3	1	15	1	0	0	0	0	1	0	0	0	1848	1086	38	1	794	1	C17orf101	17	80369341	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	2047813	80369341	825869	689	12130											
THOC1	9984	broad.mit.edu	37	chr18	216495	216495	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggtacttaccggtaattcCttggctagctttattaccat	7	9	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:216495C>A	uc002kkj.3	-	19	1633	c.1593G>T	c.(1591-1593)AAG>AAT	p.K531N	THOC1_uc002kkk.3_RNA|THOC1_uc002kkh.3_Missense_Mutation_p.K155N	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	THO complex 1	531					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			ovary(1)	1		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CCGGTAATTCCTTGGCTAGCT	0.368													A	216495	C	A	216495	3	1	15	1	0	0	0	0	1	0	0	0	15861	680	24	5	392	5	THOC1	18	216495	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08		216495	77860753	690	12131											
LPIN2	9663	broad.mit.edu	37	chr18	2925364	2925364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaggagtcattctcggccGgcctgttcaacattagccca	10	13	3	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:2925364G>A	uc002klo.2	-	14	2035	c.1796C>T	c.(1795-1797)CCG>CTG	p.P599L		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	lipin 2	599					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			ovary(1)|skin(1)	2				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		ATTCTCGGCCGGCCTGTTCAA	0.498													A	2925364	G	A	2925364	3	1	15	1	0	0	0	0	1	0	0	0	8919	1116	39	1	922	1	LPIN2	18	2925364	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	2708869	2925364	75151884	691	12132											
TGIF1	7050	broad.mit.edu	37	chr18	3457752	3457753	+	Frame_Shift_Del	DEL	CT	CT	-													gccaaaaacttcacagacacCtctctcatgtacccagagga					rs145648169		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:3457751_3457752CCT>C	uc002klz.3	+	2	1406_1407	c.1019_1020CCT>C	c.(1018-1020)accfs	p.T340fs	TGIF1_uc002klu.3_Frame_Shift_Del_p.T191fs|TGIF1_uc002klv.3_Frame_Shift_Del_p.T225fs|TGIF1_uc002klx.3_Frame_Shift_Del_p.T191fs|TGIF1_uc002klw.3_Frame_Shift_Del_p.T211fs|TGIF1_uc002kly.3_Frame_Shift_Del_p.T211fs|TGIF1_uc002kma.3_Frame_Shift_Del_p.T191fs|TGIF1_uc002kmb.3_Frame_Shift_Del_p.T191fs|TGIF1_uc002kmc.3_Frame_Shift_Del_p.T191fs	NM_170695	NP_777480	Q15583	TGIF1_HUMAN	Homo sapiens TGFB-induced factor homeobox 1 (TGIF1), transcript variant 1, mRNA.	340					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				TTCACAGACACCTCTCTCATGT	0.495													-	3457753	CT	-	3457752	7	5	15	1	0	1	0	1	0	0	0	0	15822	668	24	0	1112	0	TGIF1	18	3457752	Frame_Shift_Del	DEL	CT	TCGA-BR-4280-01A-01D-1126-08	532388	3457752	74619496	692	12133											
PTPRM	5797	broad.mit.edu	37	chr18	8076526	8076526	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatttcttcagtggagagaAccaactcaaacatatggtgt	8	7	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:8076526A>C	uc002knn.3	+	9	2018	c.1515A>C	c.(1513-1515)GAA>GAC	p.E505D	PTPRM_uc010dkv.2_Missense_Mutation_p.E505D|PTPRM_uc010wzl.1_Missense_Mutation_p.E292D	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	505	Fibronectin type-III 3.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				AGTGGAGAGAACCAACTCAAA	0.348													C	8076526	A	C	8076526	3	2	15	1	0	0	0	0	1	0	0	0	12806	40	2	5	1549	5	PTPRM	18	8076526	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	4618774	8076526	70000722	693	12134											
RAB12	201475	broad.mit.edu	37	chr18	8633208	8633208	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacacagcaggtcaggagagAttcaacagcattacctcagc	10	11	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:8633208A>G	uc002knp.2	+	3	592	c.309A>G	c.(307-309)AGA>AGG	p.R103R		NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	103					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding				0						GTCAGGAGAGATTCAACAGCA	0.403													G	8633208	A	G	8633208	2	3	15	1	0	0	0	0	0	0	0	1	12898	330	12	3		3	RAB12	18	8633208	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	556682	8633208	69444040	694	12135											
SEH1L	81929	broad.mit.edu	37	chr18	12955468	12955468	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgattccccagacacatAgtggatctgtatggcgtgtg	11	8	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:12955468A>G	uc002krr.2	+	3	307	c.169A>G	c.(169-171)AGT>GGT	p.S57G	SEH1L_uc002krq.2_Missense_Mutation_p.S57G	NM_031216	NP_112493	Q96EE3	SEH1_HUMAN	sec13-like protein isoform 2	57	WD 2.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex					0						CCAGACACATAGTGGATCTGT	0.398													G	12955468	A	G	12955468	3	3	15	1	0	0	0	0	1	0	0	0	14009	420	15	3	179	3	SEH1L	18	12955468	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	4322260	12955468	65121780	695	12136											
C18orf1	753	broad.mit.edu	37	chr18	13621221	13621221	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagtctccacgcggtcctTcatcaaccgcccgaaccaga	7	17	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:13621221T>C	uc002ksa.2	+	5	955	c.287T>C	c.(286-288)TTC>TCC	p.F96S	C18orf1_uc002ksb.2_Missense_Mutation_p.F96S|C18orf1_uc002kse.2_Missense_Mutation_p.F59S|C18orf1_uc002ksf.2_Missense_Mutation_p.F59S|C18orf1_uc002ksg.1_Missense_Mutation_p.F19S|C18orf1_uc002ksh.1_Missense_Mutation_p.F38S|C18orf1_uc002ksi.1_Missense_Mutation_p.F38S	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	96	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)		ACGCGGTCCTTCATCAACCGC	0.627													C	13621221	T	C	13621221	3	2	15	1	0	0	0	0	1	0	0	0	1894	1783	62	3	378	3	C18orf1	18	13621221	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	665753	13621221	64456027	696	12137											
RBBP8	5932	broad.mit.edu	37	chr18	20570945	20570945	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgatgagctctaccacTgtctggaaggaaatcacaag	11	8	3	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:20570945T>G	uc002ktw.2	+	10	1184	c.853T>G	c.(853-855)TGT>GGT	p.C285G	RBBP8_uc002kty.2_Missense_Mutation_p.C285G|RBBP8_uc002ktz.2_Missense_Mutation_p.C285G|RBBP8_uc002kua.2_Missense_Mutation_p.C285G|RBBP8_uc002ktx.1_Missense_Mutation_p.C285G	NM_002894	NP_002885	Q99708	COM1_HUMAN	retinoblastoma binding protein 8 isoform a	285					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)|lung(1)|skin(1)	3	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GCTCTACCACTGTCTGGAAGG	0.328								Direct_reversal_of_damage|Homologous_recombination					G	20570945	T	G	20570945	3	3	15	1	0	0	0	0	1	0	0	0	13105	1580	55	5	887	5	RBBP8	18	20570945	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	6949724	20570945	57506303	697	12138											
CHST9	83539	broad.mit.edu	37	chr18	24496988	24496988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgatgactcaccccaccGtatttcttgcaaaactcctg	6	13	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:24496988G>A	uc002kwd.2	-	5	765	c.567C>T	c.(565-567)TAC>TAT	p.Y189Y	C18orf16_uc002kwb.2_Intron|C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_Silent_p.Y104Y|CHST9_uc002kwe.2_Silent_p.Y189Y	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN	GalNAc-4-sulfotransferase 2	189	Lumenal (Potential).				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			ovary(2)|skin(1)	3	all_lung(6;0.0145)|Ovarian(20;0.124)					TCACCCCACCGTATTTCTTGC	0.368													A	24496988	G	A	24496988	2	1	15	1	0	0	0	0	0	0	0	1	3411	1140	40	1		1	CHST9	18	24496988	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	3926043	24496988	53580260	698	12139											
DSC2	1824	broad.mit.edu	37	chr18	28654723	28654723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactaaagtcaaagggtgggCcatggataggctcatcagga	14	7	3	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:28654723C>T	uc002kwl.3	-	12	2268	c.1814G>A	c.(1813-1815)GGC>GAC	p.G605D	DSC2_uc002kwk.3_Missense_Mutation_p.G605D	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	605	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AAAGGGTGGGCCATGGATAGG	0.413													T	28654723	C	T	28654723	3	4	15	1	0	0	0	0	1	0	0	0	4766	739	26	2	951	2	DSC2	18	28654723	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	4157735	28654723	49422525	699	12140											
KIAA1012	22878	broad.mit.edu	37	chr18	29410772	29410772	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaattctgctgacttgtttcAaacactgtaacttggtccga	8	9	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:29410772A>G	uc002kxc.3	-	29	4618	c.4254T>C	c.(4252-4254)TTT>TTC	p.F1418F	KIAA1012_uc002kxb.3_Silent_p.F1364F|KIAA1012_uc002kxd.3_RNA	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	1418					ER to Golgi vesicle-mediated transport	cis-Golgi network					0						GACTTGTTTCAAACACTGTAA	0.403													G	29410772	A	G	29410772	2	3	15	1	0	0	0	0	0	0	0	1	8204	127	5	3		3	KIAA1012	18	29410772	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	756049	29410772	48666476	700	12141											
ASXL3	80816	broad.mit.edu	37	chr18	31319536	31319536	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccgatgtctgacttacCtttaacatcagaaacttctt	4	12	4	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:31319536C>A	uc010dmg.1	+	11	2223	c.2168C>A	c.(2167-2169)CCT>CAT	p.P723H	ASXL3_uc002kxq.2_Missense_Mutation_p.P430H	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	723	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						TCTGACTTACCTTTAACATCA	0.408													A	31319536	C	A	31319536	3	1	15	1	0	0	0	0	1	0	0	0	1068	681	24	5	2210	5	ASXL3	18	31319536	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1908764	31319536	46757712	701	12142											
ASXL3	80816	broad.mit.edu	37	chr18	31325381	31325381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagccagatgttaaagggGtgccttgtgtcatcagttcc	13	8	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:31325381G>A	uc010dmg.1	+	12	5624	c.5569G>A	c.(5569-5571)GTG>ATG	p.V1857M	ASXL3_uc002kxq.2_Missense_Mutation_p.V1564M	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1857					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						TGTTAAAGGGGTGCCTTGTGT	0.453													A	31325381	G	A	31325381	3	1	15	1	0	0	0	0	1	0	0	0	1068	1261	44	4	5615	4	ASXL3	18	31325381	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	5845	31325381	46751867	702	12143											
MOCOS	55034	broad.mit.edu	37	chr18	33800060	33800060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaagggctgctatatgacCggagctggatggttgtgaat	14	7	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:33800060C>T	uc002kzq.3	+	9	1863	c.1840C>T	c.(1840-1842)CGG>TGG	p.R614W		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	614					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	GCTATATGACCGGAGCTGGAT	0.537													T	33800060	C	T	33800060	3	4	15	1	0	0	0	0	1	0	0	0	9689	643	23	1	1874	1	MOCOS	18	33800060	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2474679	33800060	44277188	703	12144											
FHOD3	80206	broad.mit.edu	37	chr18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-													gcgatgagaccacggagccaCcccccagtgggtgccgggac							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:34205516delC	uc002kzt.1	+	10	1097	c.1000delC	c.(1000-1002)CCCfs	p.P334fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P334fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P334fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P159fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P87fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	334	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACGGAGCCACCCCCCAGTGG	0.677													-	34205516	C	-	34205516	7	5	15	1	0	1	0	1	0	0	0	0	5883	507	18	0	1038	0	FHOD3	18	34205516	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	405456	34205516	43871732	704	12145											
PSTPIP2	9050	broad.mit.edu	37	chr18	43585486	43585486	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttatggatagcatccatTatgagctctgtctgtaaaga	9	6	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:43585486T>C	uc002lbp.3	-	6	462	c.366A>G	c.(364-366)ATA>ATG	p.I122M	PSTPIP2_uc002lbq.3_Missense_Mutation_p.I122M	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting	122	Potential.					membrane				ovary(1)	1						TAGCATCCATTATGAGCTCTG	0.303													C	43585486	T	C	43585486	3	2	15	1	0	0	0	0	1	0	0	0	12722	1744	61	3	674	3	PSTPIP2	18	43585486	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	9379970	43585486	34491762	705	12146											
KIAA0427	9811	broad.mit.edu	37	chr18	46385794	46385794	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcgcacgggacaagaTgctgtgcccctcggagtcca	14	14	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:46385794T>G	uc002ldc.2	+	12	1946	c.1661T>G	c.(1660-1662)ATG>AGG	p.M554R	KIAA0427_uc002ldd.2_Missense_Mutation_p.M556R|KIAA0427_uc002lde.3_Missense_Mutation_p.M183R	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	554	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						CGGGACAAGATGCTGTGCCCC	0.627													G	46385794	T	G	46385794	3	3	15	1	0	0	0	0	1	0	0	0	8176	1464	51	5	1709	5	KIAA0427	18	46385794	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	2800308	46385794	31691454	706	12147											
MYO5B	4645	broad.mit.edu	37	chr18	47480800	47480801	+	Frame_Shift_Ins	INS	-	-	G													agttctggtcagttcctttgINSgggacctgcagaaccacaag							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:47480799_47480800T>TG	uc002leb.2	-	12	1839_1840	c.1551_1552A>CA	c.(1549-1554)cccaaafs	p.P517fs	MYO5B_uc021ukb.1_Frame_Shift_Ins_p.P516fs	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	517	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCAGTTCCTTTGGGGACCTGCA	0.574													G	47480801	-	G	47480800	7	5	15	1	0	1	1	0	0	0	0	0	10079	1335	47	0	4107	0	MYO5B	18	47480800	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	1095006	47480800	30596448	707	12148											
MAPK4	5596	broad.mit.edu	37	chr18	48190611	48190611	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactgacctgcagggtgagCtgttcaagttcagcgtggcg	15	10	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:48190611C>T	uc002lev.2	+	2	1283	c.283C>T	c.(283-285)CTG>TTG	p.L95L	MAPK4_uc010xdm.1_Intron|MAPK4_uc010doz.2_Silent_p.L95L	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	95	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)		GCAGGGTGAGCTGTTCAAGTT	0.602													T	48190611	C	T	48190611	2	4	15	1	0	0	0	0	0	0	0	1	9280	796	28	2		2	MAPK4	18	48190611	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	709811	48190611	29886637	708	12149											
ALPK2	115701	broad.mit.edu	37	chr18	56247010	56247010	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtaatccgtcataacatcaGaacattccagatactccagg	6	11	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:56247010G>A	uc002lhj.3	-	4	1212	c.998C>T	c.(997-999)TCT>TTT	p.S333F		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	333							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						CATAACATCAGAACATTCCAG	0.433											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	56247010	G	A	56247010	3	1	15	1	0	0	0	0	1	0	0	0	545	942	33	4	5554	4	ALPK2	18	56247010	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	8056399	56247010	21830238	709	12150											
CCBE1	147372	broad.mit.edu	37	chr18	57103367	57103367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaagtcgaaagaaccagGgggtccctgtgtacatggga	15	8	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:57103367G>A	uc002lib.2	-	11	1064	c.994C>T	c.(994-996)CCT>TCT	p.P332S	CCBE1_uc010dpq.2_Missense_Mutation_p.P61S|CCBE1_uc002lia.2_Missense_Mutation_p.P185S	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	332	Collagen-like 2.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			skin(2)|ovary(1)	3		Colorectal(73;0.175)				AAAGAACCAGGGGGTCCCTGT	0.537													A	57103367	G	A	57103367	3	1	15	1	0	0	0	0	1	0	0	0	2731	1232	43	4	230	4	CCBE1	18	57103367	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	856357	57103367	20973881	710	12151											
CDH20	28316	broad.mit.edu	37	chr18	59157845	59157845	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttggacttggcatgtcctTgtacttctgggggctgatgg	15	8	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:59157845T>C	uc010dps.1	+	1	71	c.59T>C	c.(58-60)TTG>TCG	p.L20S	CDH20_uc002lif.2_Missense_Mutation_p.L14S	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	20					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				GGCATGTCCTTGTACTTCTGG	0.488													C	59157845	T	C	59157845	3	2	15	1	0	0	0	0	1	0	0	0	3106	1821	63	3	61	3	CDH20	18	59157845	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	2054478	59157845	18919403	711	12152											
CDH20	28316	broad.mit.edu	37	chr18	59221588	59221588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtggaacccccgggaggCgcaggcgggggccgccccca	17	16	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:59221588C>T	uc010dps.1	+	11	2078	c.2066C>T	c.(2065-2067)GCG>GTG	p.A689V	CDH20_uc002lif.2_Missense_Mutation_p.A683V	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	689	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				CCCCGGGAGGCGCAGGCGGGG	0.677													T	59221588	C	T	59221588	3	4	15	1	0	0	0	0	1	0	0	0	3106	768	27	1	2108	1	CDH20	18	59221588	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	63743	59221588	18855660	712	12153											
CDH20	28316	broad.mit.edu	37	chr18	59221697	59221697	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagcactgtccacagctaCgtgctggccaagctctacga	9	14	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:59221697C>T	uc010dps.1	+	11	2187	c.2175C>T	c.(2173-2175)TAC>TAT	p.Y725Y	CDH20_uc002lif.2_Silent_p.Y719Y	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	725	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				TCCACAGCTACGTGCTGGCCA	0.657													T	59221697	C	T	59221697	2	4	15	1	0	0	0	0	0	0	0	1	3106	547	19	1		1	CDH20	18	59221697	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	109	59221697	18855551	713	12154											
CTDP1	9150	broad.mit.edu	37	chr18	77477859	77477859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagggtgtgccccccaccGccttgttccacccgatgccg	13	17	0	0	rs142285723	byFrequency	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr18:77477859G>A	uc002lnh.1	+	10	2407	c.2260G>A	c.(2260-2262)GCC>ACC	p.A754T	CTDP1_uc002lni.1_Missense_Mutation_p.A754T|CTDP1_uc010drd.1_Missense_Mutation_p.A754T	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	754					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GCCCCCCACCGCCTTGTTCCA	0.682													A	77477859	G	A	77477859	3	1	15	1	0	0	0	0	1	0	0	0	4002	1087	38	1	2298	1	CTDP1	18	77477859	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	18256162	77477859	599389	714	12155											
SBNO2	22904	broad.mit.edu	37	chr19	1119609	1119609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtagatcatgttccgagGctcagaggcacctgtggggg	15	9	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:1119609G>A	uc002lrk.3	-	13	1517	c.1279C>T	c.(1279-1281)CCT>TCT	p.P427S	SBNO2_uc002lrj.3_Missense_Mutation_p.P370S|SBNO2_uc010dse.2_Missense_Mutation_p.P420S|SBNO2_uc010xgj.1_Missense_Mutation_p.P370S|SBNO2_uc010dsf.2_Missense_Mutation_p.P370S	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 isoform 1	427					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent						0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTTCCGAGGCTCAGAGGCA	0.637													A	1119609	G	A	1119609	3	1	15	1	0	0	0	0	1	0	0	0	13863	1203	42	2	2901	2	SBNO2	19	1119609	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08		1119609	58009374	715	12156											
JSRP1	126306	broad.mit.edu	37	chr19	2255302	2255302	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agctcctcccaggctctggtTgtcatggacatggctggagc	13	12	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:2255302T>A	uc002lvi.1	-	1	47	c.12A>T	c.(10-12)ACA>ACT	p.T4T	JSRP1_uc002lvj.1_Silent_p.T4T	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	4	Mediates interaction with CACNA1S (By similarity).					sarcoplasmic reticulum membrane				pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCTCTGGTTGTCATGGACA	0.657													A	2255302	T	A	2255302	2	1	15	1	0	0	0	0	0	0	0	1	7966	1799	63	5		5	JSRP1	19	2255302	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	1135693	2255302	56873681	716	12157											
FZR1	51343	broad.mit.edu	37	chr19	3527034	3527034	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcaacgatgtgtctccctaCtccctgtctcccgtcagcaa	8	16	3	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:3527034C>G	uc010dtk.2	+	5	478	c.444C>G	c.(442-444)TAC>TAG	p.Y148*	FZR1_uc002lxt.2_Nonsense_Mutation_p.Y148*|FZR1_uc002lxv.2_Intron	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Fzr1 protein isoform 1	148					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			lung(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCTCCCTACTCCCTGTCTC	0.647													G	3527034	C	G	3527034	4	3	15	1	0	0	0	0	0	1	0	0	6138	576	20	5	462	5	FZR1	19	3527034	Nonsense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1271732	3527034	55601949	717	12158											
PTPRS	5802	broad.mit.edu	37	chr19	5286136	5286136	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacagacaccatgccagggcCccaggtgggcgccatgcttg	13	15	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:5286136C>A	uc002mbv.2	-	2	250	c.16G>T	c.(16-18)GGC>TGC	p.G6C	PTPRS_uc002mbu.1_Missense_Mutation_p.G6C|PTPRS_uc010xin.1_Missense_Mutation_p.G6C|PTPRS_uc002mbw.2_Missense_Mutation_p.G6C|PTPRS_uc002mbx.2_Missense_Mutation_p.G6C|PTPRS_uc002mby.2_Missense_Mutation_p.G6C|PTPRS_uc002mbz.1_Missense_Mutation_p.G6C	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	6					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		ATGCCAGGGCCCCAGGTGGGC	0.667													A	5286136	C	A	5286136	3	1	15	1	0	0	0	0	1	0	0	0	12811	623	22	5	5978	5	PTPRS	19	5286136	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1759102	5286136	53842847	718	12159											
GTF2F1	2962	broad.mit.edu	37	chr19	6381412	6381412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggggtgggtgccttcttctCctcctcctcctccttgtcct	9	17	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:6381412C>T	uc002meq.2	-	9	1261	c.976G>A	c.(976-978)GAG>AAG	p.E326K	GTF2F1_uc010xjb.1_Missense_Mutation_p.E147K|GTF2F1_uc010xjc.1_Missense_Mutation_p.E241K	NM_002096	NP_002087	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1,	326	Glu-rich.				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding				0						Gccttcttctcctcctcctcc	0.542													T	6381412	C	T	6381412	3	4	15	1	0	0	0	0	1	0	0	0	6858	864	30	4	597	4	GTF2F1	19	6381412	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1095276	6381412	52747571	719	12160											
ARHGEF18	23370	broad.mit.edu	37	chr19	7518449	7518449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcagtgagtgtgagaaggGccagcgcctcagggagatcg	18	8	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:7518449G>A	uc002mgi.2	+	7	1641	c.1388G>A	c.(1387-1389)GGC>GAC	p.G463D	ARHGEF18_uc010xjm.1_Missense_Mutation_p.G305D|ARHGEF18_uc002mgh.2_Missense_Mutation_p.G305D|ARHGEF18_uc002mgj.1_Missense_Mutation_p.G106D	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	463					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				TGTGAGAAGGGCCAGCGCCTC	0.552													A	7518449	G	A	7518449	3	1	15	1	0	0	0	0	1	0	0	0	901	1203	42	2	1414	2	ARHGEF18	19	7518449	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1137037	7518449	51610534	720	12161											
MCOLN1	57192	broad.mit.edu	37	chr19	7598461	7598461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaggcctacatcgcacAgtgccaggacagccccacct	10	17	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:7598461A>G	uc002mgo.2	+	13	1753	c.1628A>G	c.(1627-1629)CAG>CGG	p.Q543R	PNPLA6_uc002mgq.1_5'Flank|PNPLA6_uc010xjp.1_5'Flank|PNPLA6_uc002mgr.1_5'Flank|PNPLA6_uc010xjq.1_5'Flank|PNPLA6_uc002mgs.2_5'Flank|MCOLN1_uc002mgp.2_Missense_Mutation_p.Q508R	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	mucolipin 1	543					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(1)	1						TACATCGCACAGTGCCAGGAC	0.692													G	7598461	A	G	7598461	3	3	15	1	0	0	0	0	1	0	0	0	9395	188	7	3	1678	3	MCOLN1	19	7598461	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	80012	7598461	51530522	721	12162											
SNAPC2	6618	broad.mit.edu	37	chr19	7987519	7987519	+	Frame_Shift_Del	DEL	C	C	-													ctccaaggcaccagaggagaCccccccagccaccgagaagg					rs143745112	byFrequency	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:7987518_7987518AC>A	uc002miw.2	+	4	932	c.874_874AC>A	c.(874-876)accfs	p.T292fs	SNAPC2_uc002mix.2_Non-coding_Transcript	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 2, 45kDa (SNAPC2), transcript variant 1, mRNA.	292					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						ACCAGAGGAGACCCCCCCAGC	0.667													-	7987519	C	-	7987519	7	5	15	1	0	1	0	1	0	0	0	0	14835	507	18	0	893	0	SNAPC2	19	7987519	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	389058	7987519	51141464	722	12163											
TIMM44	10469	broad.mit.edu	37	chr19	7998751	7998751	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgggctggtacctactcGtttggctcaaacactttctc	8	14	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:7998751G>A	uc002miz.2	-	6	683	c.681C>T	c.(679-681)AAC>AAT	p.N227N	TIMM44_uc002mja.2_Translation_Start_Site|TIMM44_uc010dvx.1_RNA	NM_006351	NP_006342	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44	227					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1						GTACCTACTCGTTTGGCTCAA	0.592													A	7998751	G	A	7998751	2	1	15	1	0	0	0	0	0	0	0	1	15909	1136	40	1		1	TIMM44	19	7998751	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	11232	7998751	51130232	723	12164											
FBN3	84467	broad.mit.edu	37	chr19	8176624	8176624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcacctcttgggctgcacCggtgctcctgggagacgcat	13	13	2	1	rs143347714		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:8176624C>T	uc002mjf.2	-	31	4013	c.3992G>A	c.(3991-3993)CGG>CAG	p.R1331Q		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1331	EGF-like 20; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						TGGGCTGCACCGGTGCTCCTG	0.617													T	8176624	C	T	8176624	3	4	15	1	0	0	0	0	1	0	0	0	5704	652	23	1	4569	1	FBN3	19	8176624	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	177873	8176624	50952359	724	12165											
ZNF699	374879	broad.mit.edu	37	chr19	9406969	9406969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgaggactcgctgaaggCcttcccacactctttacatt	7	12	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:9406969C>T	uc002mlc.1	-	5	1111	c.1111G>A	c.(1111-1113)GCC>ACC	p.A371T		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	zinc finger protein 699	371	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCGCTGAAGGCCTTCCCACAC	0.433													T	9406969	C	T	9406969	3	4	15	1	0	0	0	0	1	0	0	0	18098	739	26	2	821	2	ZNF699	19	9406969	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1230345	9406969	49722014	725	12166											
TYK2	7297	broad.mit.edu	37	chr19	10463629	10463629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggctgtccccatcctcgCgcacgcggtagtactcgtgg	14	15	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:10463629C>T	uc002moc.3	-	22	3551	c.3173G>A	c.(3172-3174)CGC>CAC	p.R1058H	TYK2_uc010dxe.2_Missense_Mutation_p.R873H	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	1058	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCCATCCTCGCGCACGCGGTA	0.657													T	10463629	C	T	10463629	3	4	15	1	0	0	0	0	1	0	0	0	16807	768	27	1	406	1	TYK2	19	10463629	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1056660	10463629	48665354	726	12167											
KANK2	25959	broad.mit.edu	37	chr19	11304155	11304155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcacctgctcctccagctGccgcagcttccgcagggcac	9	19	1	0	rs148328896	byFrequency	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:11304155G>T	uc010dxv.2	-	6	1159	c.601C>A	c.(601-603)CAG>AAG	p.Q201K	KANK2_uc002mqm.2_Missense_Mutation_p.Q201K|KANK2_uc002mqo.3_Missense_Mutation_p.Q201K|KANK2_uc002mqp.1_Missense_Mutation_p.Q10K|KANK2_uc002mqq.2_Missense_Mutation_p.Q201K	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1	201	Potential.										0						TCCTCCAGCTGCCGCAGCTTC	0.637													T	11304155	G	T	11304155	3	4	15	1	0	0	0	0	1	0	0	0	7977	1328	46	5	2018	5	KANK2	19	11304155	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	840526	11304155	47824828	727	12168											
RGL3	57139	broad.mit.edu	37	chr19	11508219	11508219	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggagggggattcgagggcTgcccagaggcaaagcgaagg	20	8	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:11508219T>G	uc002mrp.2	-	17	1865	c.1801A>C	c.(1801-1803)AGC>CGC	p.S601R	RGL3_uc002mrn.2_Missense_Mutation_p.S365R|RGL3_uc002mrm.2_Missense_Mutation_p.S365R|RGL3_uc002mro.2_Missense_Mutation_p.S607R	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	601	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1						ATTCGAGGGCTGCCCAGAGGC	0.652													G	11508219	T	G	11508219	3	3	15	1	0	0	0	0	1	0	0	0	13278	1580	55	5	343	5	RGL3	19	11508219	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	204064	11508219	47620764	728	12169											
ECSIT	51295	broad.mit.edu	37	chr19	11618821	11618821	+	Frame_Shift_Del	DEL	G	G	-													cttacctacgatgtggggctGggggggatctgctgcacctg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:11618820_11618820TG>T	uc002msb.3	-	4	916	c.782_782CA>A	c.(781-783)cagfs	p.Q261fs	ZNF653_uc002mrz.2_5'Flank|ECSIT_uc010dyc.2_Frame_Shift_Del_p.Q261fs|ECSIT_uc010dyd.3_Frame_Shift_Del_p.Q261fs|ECSIT_uc010xma.2_Frame_Shift_Del_p.Q47fs	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	261					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GATGTGGGGCTGGGGGGGATC	0.582													-	11618821	G	-	11618821	7	5	15	1	0	1	0	1	0	0	0	0	4900	1357	47	0	530	0	ECSIT	19	11618821	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	110602	11618821	47510162	729	12170											
ZNF442	79973	broad.mit.edu	37	chr19	12460790	12460790	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggcttctctccagtgtgaaTcctttcatggacttttaagt	8	9	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:12460790T>A	uc002mtr.1	-	6	2220	c.1609A>T	c.(1609-1611)ATT>TTT	p.I537F	ZNF442_uc010xmk.1_Missense_Mutation_p.I468F	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	537	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|breast(1)|kidney(1)	4						CCAGTGTGAATCCTTTCATGG	0.388													A	12460790	T	A	12460790	3	1	15	1	0	0	0	0	1	0	0	0	17912	1435	50	5	278	5	ZNF442	19	12460790	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	841969	12460790	46668193	730	12171											
C19orf57	79173	broad.mit.edu	37	chr19	14000035	14000035	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcgaagtcagaggcgtccAgggcatcctgtatctggctg	13	11	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:14000035A>G	uc002mxl.1	-	6	1693	c.1634T>C	c.(1633-1635)CTG>CCG	p.L545P	C19orf57_uc002mxk.1_Missense_Mutation_p.L427P|C19orf57_uc002mxm.1_Intron	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	545					multicellular organismal development		protein binding			ovary(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			AGAGGCGTCCAGGGCATCCTG	0.612													G	14000035	A	G	14000035	3	3	15	1	0	0	0	0	1	0	0	0	1939	188	7	3	291	3	C19orf57	19	14000035	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1539245	14000035	45128948	731	12172											
OR7C1	26664	broad.mit.edu	37	chr19	14910600	14910600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcggtcataggccatcaCggtcaagagtaaattgtcca	11	9	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:14910600C>T	uc010xnz.1	-	1	349	c.349G>A	c.(349-351)GTG>ATG	p.V117M		NM_198944	NP_945182	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C,	117	Helical; Name=3; (Potential).				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						TAGGCCATCACGGTCAAGAGT	0.483													T	14910600	C	T	14910600	3	4	15	1	0	0	0	0	1	0	0	0	11217	536	19	1	615	1	OR7C1	19	14910600	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	910565	14910600	44218383	732	12173											
ANO8	57719	broad.mit.edu	37	chr19	17438659	17438659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaacgtagccgaactgcaCgaacatctcctggtagtcct	8	14	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:17438659C>T	uc002ngf.2	-	14	2416	c.2257G>A	c.(2257-2259)GTG>ATG	p.V753M	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	753	Helical; (Potential).					chloride channel complex	chloride channel activity			ovary(3)	3						CCGAACTGCACGAACATCTCC	0.612													T	17438659	C	T	17438659	3	4	15	1	0	0	0	0	1	0	0	0	703	536	19	1	1461	1	ANO8	19	17438659	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2528059	17438659	41690324	733	12174											
UNC13A	23025	broad.mit.edu	37	chr19	17759368	17759368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcgtagcagtaggtgggcGtggtggccgtccacacttcg	15	11	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:17759368G>A	uc002nhd.2	-	16	1952	c.1952C>T	c.(1951-1953)ACG>ATG	p.T651M		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	563	Phorbol-ester/DAG-type.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						GTAGGTGGGCGTGGTGGCCGT	0.602													A	17759368	G	A	17759368	3	1	15	1	0	0	0	0	1	0	0	0	16981	1145	40	1	3535	1	UNC13A	19	17759368	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	320709	17759368	41369615	734	12175											
ZNF506	440515	broad.mit.edu	37	chr19	19916883	19916883	+	Frame_Shift_Del	DEL	T	T	-													tgcctcttcatagttaaaggTttttttccttgctccagaca							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:19916882_19916882GT>G	uc010eci.2	-	2	332	c.184_184AC>C	c.(184-186)cctfs	p.P62fs	ZNF506_uc021urk.1_Non-coding_Transcript|ZNF506_uc002noh.3_Intron|ZNF506_uc010ecj.2_Non-coding_Transcript	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	Homo sapiens zinc finger protein 506 (ZNF506), transcript variant 1, mRNA.	62	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						ATAGTTAAAGGTTTTTTTCCT	0.388													-	19916883	T	-	19916883	7	5	15	1	0	1	0	1	0	0	0	0	17949	1722	60	0	1159	0	ZNF506	19	19916883	Frame_Shift_Del	DEL	T	TCGA-BR-4280-01A-01D-1126-08	2157515	19916883	39212100	735	12176											
WDR88	126248	broad.mit.edu	37	chr19	33647411	33647411	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgactctgatgcagggccaTgaaggttctgtcagttcctg	13	9	3	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:33647411T>C	uc002nui.2	+	7	1038	c.960T>C	c.(958-960)CAT>CAC	p.H320H		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	320	WD 6.									ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					TGCAGGGCCATGAAGGTTCTG	0.488													C	33647411	T	C	33647411	2	2	15	1	0	0	0	0	0	0	0	1	17332	1461	51	3		3	WDR88	19	33647411	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	13730528	33647411	25481572	736	12177											
MLL4	9757	broad.mit.edu	37	chr19	36223002	36223002	+	Frame_Shift_Del	DEL	G	G	-													tcgccatcccggaggcccttGgggggtgtctcctttggccc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:36223002delG	uc010eei.2	+	28	5631	c.5631delG	c.(5629-5631)TTGfs	p.L1877fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1877					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGAGGCCCTTGGGGGGTGTCT	0.672													-	36223002	G	-	36223002	7	5	15	1	0	1	0	1	0	0	0	0	9623	1339	47	0	5737	0	MLL4	19	36223002	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	2575591	36223002	22905981	737	12178											
WDR62	284403	broad.mit.edu	37	chr19	36594075	36594075	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggtcctcgctgcagggaaGgctgaagagaccctggaggc	16	11	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:36594075G>T	uc002odc.2	+	29	3556	c.3465G>T	c.(3463-3465)AAG>AAT	p.K1155N	WDR62_uc002odd.2_Missense_Mutation_p.K1160N	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1155	WD 14.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTGCAGGGAAGGCTGAAGAGA	0.662													T	36594075	G	T	36594075	3	4	15	1	0	0	0	0	1	0	0	0	17310	991	35	5	3594	5	WDR62	19	36594075	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	371073	36594075	22534908	738	12179											
ZNF461	92283	broad.mit.edu	37	chr19	37130098	37130098	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cattcccgacattcatagggTttctcaccagtatgaattct	6	11	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:37130098T>A	uc002oem.2	-	6	1377	c.1149A>T	c.(1147-1149)AAA>AAT	p.K383N	ZNF461_uc002oen.2_Missense_Mutation_p.K352N|ZNF461_uc010xtj.1_Missense_Mutation_p.K360N	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	gonadotropin inducible transcription repressor	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATTCATAGGGTTTCTCACCAG	0.398													A	37130098	T	A	37130098	3	1	15	1	0	0	0	0	1	0	0	0	17922	1722	60	5	546	5	ZNF461	19	37130098	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	536023	37130098	21998885	739	12180											
ZNF568	374900	broad.mit.edu	37	chr19	37440970	37440970	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attcatactggggagaaaccTtatgcatgtaaggattgttg	11	5	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:37440970T>G	uc002ofc.2	+	7	1430	c.915T>G	c.(913-915)CCT>CCG	p.P305P	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Silent_p.P229P|ZNF568_uc010efe.2_Silent_p.P229P|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGGAGAAACCTTATGCATGTA	0.378													G	37440970	T	G	37440970	2	3	15	1	0	0	0	0	0	0	0	1	17996	1596	56	5		5	ZNF568	19	37440970	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	310872	37440970	21688013	740	12181											
RYR1	6261	broad.mit.edu	37	chr19	39038982	39038982	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacatgttcctgaaactcaaGgacattgtgggctctgaagc	11	9	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:39038982G>T	uc002oit.2	+	89	12334	c.12204G>T	c.(12202-12204)AAG>AAT	p.K4068N	RYR1_uc002oiu.2_Missense_Mutation_p.K4063N|RYR1_uc002oiv.1_Missense_Mutation_p.K977N	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4068					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGAAACTCAAGGACATTGTGG	0.537													T	39038982	G	T	39038982	3	4	15	1	0	0	0	0	1	0	0	0	13768	991	35	5	12558	5	RYR1	19	39038982	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1598012	39038982	20090001	741	12182											
HNRNPL	3191	broad.mit.edu	37	chr19	39322070	39322070	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggtctggggcttcaccgaGggctactccggaagcctcct	14	13	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:39322070G>T	uc002ojj.1	-	6	846	c.766C>A	c.(766-768)CTC>ATC	p.L256I	ECH1_uc002oji.2_Missense_Mutation_p.L47I|ECH1_uc010xuk.1_Missense_Mutation_p.L47I|HNRNPL_uc010ege.1_Intron	NM_001005335	NP_001005335	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	Error:Variant_position_missing_in_P14866_after_alignment					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GCTTCACCGAGGGCTACTCCG	0.577													T	39322070	G	T	39322070	3	4	15	1	0	0	0	0	1	0	0	0	7270	1000	35	5		5	HNRNPL	19	39322070	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	283088	39322070	19806913	742	12183											
PLEKHG2	64857	broad.mit.edu	37	chr19	39913906	39913907	+	Frame_Shift_Ins	INS	-	-	T													gccagaggaggatgaagaagINSgggtatcattcacagacttc					rs146458335		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:39913905_39913906A>AT	uc010xuz.2	+	17	2536_2537	c.2211_2212A>AT	c.(2209-2214)gaagggfs	p.E737fs	PLEKHG2_uc010xuy.2_Frame_Shift_Ins_p.E678fs|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Frame_Shift_Ins_p.E515fs	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	737					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGATGAAGAAGGGGTATCATT	0.574													T	39913907	-	T	39913906	7	5	15	1	0	1	1	0	0	0	0	0	12069	1000	35	0	2278	0	PLEKHG2	19	39913906	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	591836	39913906	19215077	743	12184											
C19orf47	126526	broad.mit.edu	37	chr19	40828262	40828262	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtttctggggtggcccccaGgcggctgaagactcctgtgg	16	12	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:40828262G>T	uc002oni.3	-	9	797	c.796C>A	c.(796-798)CTG>ATG	p.L266M	C19orf47_uc002ong.2_Missense_Mutation_p.L125M|C19orf47_uc002onh.2_Missense_Mutation_p.L199M	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	hypothetical protein LOC126526	266										ovary(1)|skin(1)	2			Lung(22;0.000636)			GTGGCCCCCAGGCGGCTGAAG	0.542													T	40828262	G	T	40828262	3	4	15	1	0	0	0	0	1	0	0	0	1930	991	35	5	476	5	C19orf47	19	40828262	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	914356	40828262	18300721	744	12185											
ZNF234	10780	broad.mit.edu	37	chr19	44661951	44661951	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agggtgcacacaggagaaaaAccctatacatgtggggagtg	14	7	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:44661951A>C	uc002oym.2	+	6	2089	c.1782A>C	c.(1780-1782)AAA>AAC	p.K594N	ZNF234_uc002oyl.3_Missense_Mutation_p.K594N	NM_006630	NP_006621	Q14588	ZN234_HUMAN	zinc finger protein 234	594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				CAGGAGAAAAACCCTATACAT	0.488													C	44661951	A	C	44661951	3	2	15	1	0	0	0	0	1	0	0	0	17784	40	2	5	1796	5	ZNF234	19	44661951	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	3833689	44661951	14467032	745	12186											
SYMPK	8189	broad.mit.edu	37	chr19	46351244	46351244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagctcgctaatgacccGtgactttaccatccactgcc	7	15	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:46351244G>A	uc002pdn.2	-	7	687	c.442C>T	c.(442-444)CGG>TGG	p.R148W	SYMPK_uc002pdo.1_Missense_Mutation_p.R148W|SYMPK_uc002pdp.1_Missense_Mutation_p.R148W|SYMPK_uc002pdq.1_Missense_Mutation_p.R148W	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	148					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTAATGACCCGTGACTTTACC	0.547													A	46351244	G	A	46351244	3	1	15	1	0	0	0	0	1	0	0	0	15436	1144	40	1	3466	1	SYMPK	19	46351244	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1689293	46351244	12777739	746	12187											
PGLYRP1	8993	broad.mit.edu	37	chr19	46522617	46522617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacctcagggctccctgaGccacaccgcaggccagtaga	12	15	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:46522617G>A	uc002pdx.1	-	3	514	c.470C>T	c.(469-471)GCT>GTT	p.A157V		NM_005091	NP_005082	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1 precursor	157					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(2)	2		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GGCTCCCTGAGCCACACCGCA	0.632													A	46522617	G	A	46522617	3	1	15	1	0	0	0	0	1	0	0	0	11793	971	34	2	124	2	PGLYRP1	19	46522617	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	171373	46522617	12606366	747	12188											
PNMAL2	57469	broad.mit.edu	37	chr19	46998154	46998154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcctcggcctcactcctcGcgggagcagacggccgtcct	12	17	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:46998154G>A	uc002pes.2	-	1	1016	c.569C>T	c.(568-570)GCG>GTG	p.A190V	uc002peu.1_Missense_Mutation_p.A89T	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	190										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CTCACTCCTCGCGGGAGCAGA	0.647													A	46998154	G	A	46998154	3	1	15	1	0	0	0	0	1	0	0	0	12158	1087	38	1	1342	1	PNMAL2	19	46998154	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	475537	46998154	12130829	748	12189											
CCDC114	93233	broad.mit.edu	37	chr19	48807230	48807230	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcttttcacgcttctccAggacatcgggatccggctgc	10	15	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:48807230A>G	uc002pir.2	-	7	1405	c.722T>C	c.(721-723)CTG>CCG	p.L241P	CCDC114_uc002piq.2_Missense_Mutation_p.L50P|CCDC114_uc002pio.2_Missense_Mutation_p.L278P|CCDC114_uc002pis.1_5'Flank|CCDC114_uc002pit.1_Missense_Mutation_p.L278P|CCDC114_uc002piu.1_Missense_Mutation_p.L278P	NM_144577	NP_653178	Q96M63	CC114_HUMAN	coiled-coil domain containing 114 isoform 2	241										ovary(1)	1		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		ACGCTTCTCCAGGACATCGGG	0.642													G	48807230	A	G	48807230	3	3	15	1	0	0	0	0	1	0	0	0	2751	188	7	3	1322	3	CCDC114	19	48807230	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1809076	48807230	10321753	749	12190											
PTOV1	53635	broad.mit.edu	37	chr19	50363375	50363375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttgtcaacggcatccggCgtgtcattgccaaccagcag	10	13	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:50363375C>T	uc002pqf.1	+	11	1344	c.1174C>T	c.(1174-1176)CGT>TGT	p.R392C	PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Silent_p.G336G|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	392	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CGGCATCCGGCGTGTCATTGC	0.587													T	50363375	C	T	50363375	3	4	15	1	0	0	0	0	1	0	0	0	12769	768	27	1	1216	1	PTOV1	19	50363375	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1556145	50363375	8765608	750	12191											
NUP62	23636	broad.mit.edu	37	chr19	50412513	50412513	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagggcaacgtggcaggTgccgtgggctgggctgaatt	19	7	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:50412513T>C	uc002pqx.2	-	2	656	c.552A>G	c.(550-552)GCA>GCG	p.A184A	IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Silent_p.A184A|NUP62_uc002pqz.2_Silent_p.A184A|NUP62_uc002pra.2_Silent_p.A184A|NUP62_uc002prb.2_Silent_p.A184A|NUP62_uc002prc.2_Silent_p.A184A	NM_153719	NP_714941	P37198	NUP62_HUMAN	nucleoporin 62kDa	184	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding				0		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ACGTGGCAGGTGCCGTGGGCT	0.627													C	50412513	T	C	50412513	2	2	15	1	0	0	0	0	0	0	0	1	10768	1683	59	3		3	NUP62	19	50412513	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	49138	50412513	8716470	751	12192											
VRK3	51231	broad.mit.edu	37	chr19	50491647	50491647	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttctgtttttgcttcatgAtgtcctcagtgttgggaagg	11	7	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:50491647A>G	uc002prg.2	-	12	1297	c.1199T>C	c.(1198-1200)ATC>ACC	p.I400T	VRK3_uc002prh.1_Missense_Mutation_p.I400T|VRK3_uc002pri.1_Missense_Mutation_p.I350T|VRK3_uc010ens.2_Missense_Mutation_p.I400T|VRK3_uc010ybl.1_Missense_Mutation_p.I350T|VRK3_uc010ybm.1_Missense_Mutation_p.I169T|VRK3_uc002prj.1_Missense_Mutation_p.I350T|VRK3_uc002prk.1_Missense_Mutation_p.I400T|VRK3_uc010ent.1_Missense_Mutation_p.I156T|VRK3_uc002prl.2_Missense_Mutation_p.I400T	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	vaccinia related kinase 3 isoform 1	400	Protein kinase.					nucleus	ATP binding|protein kinase activity			stomach(1)|skin(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TTGCTTCATGATGTCCTCAGT	0.582													G	50491647	A	G	50491647	3	3	15	1	0	0	0	0	1	0	0	0	17218	333	12	3	237	3	VRK3	19	50491647	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	79134	50491647	8637336	752	12193											
NR1H2	7376	broad.mit.edu	37	chr19	50882025	50882025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaactgcagtgcaacaaacGctccttctccgaccagccca	6	18	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:50882025G>A	uc010enw.2	+	7	998	c.722G>A	c.(721-723)CGC>CAC	p.R241H	NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Missense_Mutation_p.R240H|NR1H2_uc002psa.3_Missense_Mutation_p.R143H	NM_007121	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	240	Ligand-binding (Potential).				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TGCAACAAACGCTCCTTCTCC	0.617													A	50882025	G	A	50882025	3	1	15	1	0	0	0	0	1	0	0	0	10617	1087	38	1	733	1	NR1H2	19	50882025	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	390378	50882025	8246958	753	12194											
SHANK1	50944	broad.mit.edu	37	chr19	51165362	51165362	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtccaggaactgggctcGgtgctccgccaaacccagcc	13	15	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:51165362G>A	uc002psx.1	-	23	6365	c.6346C>T	c.(6346-6348)CGA>TGA	p.R2116*	SHANK1_uc002psw.1_Nonsense_Mutation_p.R1500*	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2116	SAM.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AACTGGGCTCGGTGCTCCGCC	0.632													A	51165362	G	A	51165362	4	1	15	1	0	0	0	0	0	1	0	0	14264	1124	39	1	143	1	SHANK1	19	51165362	Nonsense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	283337	51165362	7963621	754	12195											
SHANK1	50944	broad.mit.edu	37	chr19	51190039	51190039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtccgctttttctccatgCtgggcaccggcgccggctgc	13	16	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:51190039C>T	uc002psx.1	-	19	2439	c.2420G>A	c.(2419-2421)AGC>AAC	p.S807N	SHANK1_uc002psw.1_Missense_Mutation_p.S191N	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	807					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TTTCTCCATGCTGGGCACCGG	0.577													T	51190039	C	T	51190039	3	4	15	1	0	0	0	0	1	0	0	0	14264	797	28	2	4085	2	SHANK1	19	51190039	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	24677	51190039	7938944	755	12196											
SHANK1	50944	broad.mit.edu	37	chr19	51191203	51191203	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtgcactgcctcatccAtgtccgggtgcctggtgacc	11	14	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:51191203A>G	uc002psx.1	-	17	2304	c.2285T>C	c.(2284-2286)ATG>ACG	p.M762T	SHANK1_uc002psw.1_Missense_Mutation_p.M146T	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	762					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TGCCTCATCCATGTCCGGGTG	0.637													G	51191203	A	G	51191203	3	3	15	1	0	0	0	0	1	0	0	0	14264	217	8	3	4228	3	SHANK1	19	51191203	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1164	51191203	7937780	756	12197											
KLK1	3816	broad.mit.edu	37	chr19	51323227	51323227	+	Frame_Shift_Del	DEL	T	T	-													gtcaccttctggacgtgggcTtttttgcactcatcattagg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:51323227delT	uc002ptk.1	-	4	600	c.561delA	c.(559-561)AAAfs	p.K187fs	KLK1_uc010ycg.1_RNA	NM_002257	NP_002248	P06870	KLK1_HUMAN	kallikrein 1 preproprotein	187	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity				0		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGACGTGGGCTTTTTTGCACT	0.557													-	51323227	T	-	51323227	7	5	15	1	0	1	0	1	0	0	0	0	8397	1606	56	0	235	0	KLK1	19	51323227	Frame_Shift_Del	DEL	T	TCGA-BR-4280-01A-01D-1126-08	132024	51323227	7805756	757	12198											
SIGLEC6	946	broad.mit.edu	37	chr19	52034212	52034212	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgttgggcctgtgggtcagGgctggtgaggagatggggac	21	5	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:52034212G>T	uc002pwy.2	-	3	591	c.429C>A	c.(427-429)GCC>GCA	p.A143A	SIGLEC6_uc002pwz.2_Silent_p.A143A|SIGLEC6_uc002pxa.2_Silent_p.A143A|SIGLEC6_uc010ydb.1_Silent_p.A96A|SIGLEC6_uc010ydc.1_Silent_p.A132A|SIGLEC6_uc010eoz.1_Intron|SIGLEC6_uc010epb.1_Silent_p.A96A|SIGLEC6_uc010epa.1_Silent_p.A132A	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	143	Extracellular (Potential).				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				ovary(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGTGGGTCAGGGCTGGTGAGG	0.622													T	52034212	G	T	52034212	2	4	15	1	0	0	0	0	0	0	0	1	14312	1246	43	5		5	SIGLEC6	19	52034212	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	710985	52034212	7094771	758	12199											
ZNF766	90321	broad.mit.edu	37	chr19	52794408	52794408	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggcacagttcatggtttgTacagcatcagagaagtgttc	11	7	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:52794408T>C	uc002pyr.1	+	4	1407	c.1364T>C	c.(1363-1365)GTA>GCA	p.V455A	ZNF766_uc002pys.1_3'UTR|ZNF766_uc002pyt.1_Intron	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN	zinc finger protein 766	455	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		TCATGGTTTGTACAGCATCAG	0.408													C	52794408	T	C	52794408	3	2	15	1	0	0	0	0	1	0	0	0	18137	1638	57	3	1378	3	ZNF766	19	52794408	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	760196	52794408	6334575	759	12200											
ZNF808	388558	broad.mit.edu	37	chr19	53057126	53057126	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccttacaagtgtaatgaGtgtggcaaggtctttcgtca	10	7	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:53057126G>A	uc010epq.1	+	5	1134	c.957G>A	c.(955-957)GAG>GAA	p.E319E	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	319	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AGTGTAATGAGTGTGGCAAGG	0.388													A	53057126	G	A	53057126	2	1	15	1	0	0	0	0	0	0	0	1	18170	1020	36	4		4	ZNF808	19	53057126	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	262718	53057126	6071857	760	12201											
NLRP12	91662	broad.mit.edu	37	chr19	54314476	54314476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgacacattcccctaggCgcgcattgcggtcttccatg	11	13	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:54314476C>T	uc002qch.3	-	3	657	c.437G>A	c.(436-438)CGC>CAC	p.R146H	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.R146H|NLRP12_uc002qcj.3_Missense_Mutation_p.R146H|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.R146H	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	146					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTCCCCTAGGCGCGCATTGCG	0.567													T	54314476	C	T	54314476	3	4	15	1	0	0	0	0	1	0	0	0	10474	768	27	1	2876	1	NLRP12	19	54314476	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1257350	54314476	4814507	761	12202											
GP6	51206	broad.mit.edu	37	chr19	55530055	55530055	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtttgtgaatgagacggtcAgttcagcggtggcttctgag	15	7	3	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:55530055A>G	uc002qik.2	-	6	717	c.689T>C	c.(688-690)CTG>CCG	p.L230P	GP6_uc002qil.2_Missense_Mutation_p.L230P|GP6_uc010esq.2_Missense_Mutation_p.L212P	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet) isoform 2	230	Extracellular (Potential).				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		TGAGACGGTCAGTTCAGCGGT	0.458													G	55530055	A	G	55530055	3	3	15	1	0	0	0	0	1	0	0	0	6584	188	7	3	1185	3	GP6	19	55530055	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1215579	55530055	3598928	762	12203											
BRSK1	84446	broad.mit.edu	37	chr19	55812988	55812988	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagattgccagagcctcctgAggggaatgatcgaagtggag	15	8	0	4			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:55812988A>G	uc002qkg.2	+	8	1064	c.787A>G	c.(787-789)AGG>GGG	p.R263G	BRSK1_uc002qkf.2_Missense_Mutation_p.R279G|BRSK1_uc002qkh.2_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	263	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GAGCCTCCTGAGGGGAATGAT	0.597													G	55812988	A	G	55812988	3	3	15	1	0	0	0	0	1	0	0	0	1523	295	11	3	817	3	BRSK1	19	55812988	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	282933	55812988	3315995	763	12204											
ZIM3	114026	broad.mit.edu	37	chr19	57646555	57646555	+	Frame_Shift_Del	DEL	T	T	-													gggcttttccccagtatggaTttttttatgttgaatgaggt							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:57646555delT	uc002qnz.1	-	5	1536	c.1150delA	c.(1150-1152)ATCfs	p.I384fs		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	384	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCAGTATGGATTTTTTTATGT	0.388													-	57646555	T	-	57646555	7	5	15	1	0	1	0	1	0	0	0	0	17682	1493	52	0	272	0	ZIM3	19	57646555	Frame_Shift_Del	DEL	T	TCGA-BR-4280-01A-01D-1126-08	1833567	57646555	1482428	764	12205											
ZNF543	125919	broad.mit.edu	37	chr19	57839258	57839258	+	Frame_Shift_Del	DEL	G	G	-													aatagggataggcccccagcGggggaagctgctggagaaaa					rs145613506	byFrequency	TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr19:57839257_57839257CG>C	uc002qoi.2	+	3	784	c.427_427CG>C	c.(427-429)cggfs	p.R143fs		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	Homo sapiens zinc finger protein 543 (ZNF543), mRNA.	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R143L(1)		breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGGCCCCCAGCGGGGGAAGCT	0.468													-	57839258	G	-	57839258	7	5	15	1	0	1	0	1	0	0	0	0	17973	1116	39	0	442	0	ZNF543	19	57839258	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	192703	57839258	1289725	765	12206											
SIGLEC1	6614	broad.mit.edu	37	chr20	3686656	3686656	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccctcgagaagctccacCggggaggcaatggtgggcac	16	12	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:3686656C>T	uc002wja.2	-	3	441	c.441G>A	c.(439-441)CCG>CCA	p.P147P	SIGLEC1_uc002wiz.3_Silent_p.P147P|SIGLEC1_uc002wjc.2_Silent_p.P58P	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	147	Ig-like C2-type 1.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						GAAGCTCCACCGGGGAGGCAA	0.632													T	3686656	C	T	3686656	2	4	15	1	0	0	0	0	0	0	0	1	14305	639	23	1		1	SIGLEC1	20	3686656	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08		3686656	59338864	766	12207											
ADRA1D	146	broad.mit.edu	37	chr20	4202221	4202221	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggccaattcgtaggcctgGcaggtggcgccctcggccac	14	15	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:4202221G>A	uc002wkr.2	-	2	1723	c.1668C>T	c.(1666-1668)TGC>TGT	p.C556C		NM_000678	NP_000669	P25100	ADA1D_HUMAN	alpha-1D-adrenergic receptor	556	Cytoplasmic (By similarity).			KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity				0					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	CGTAGGCCTGGCAGGTGGCGC	0.687													A	4202221	G	A	4202221	2	1	15	1	0	0	0	0	0	0	0	1	336	1195	42	2		2	ADRA1D	20	4202221	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	515565	4202221	58823299	767	12208											
CHGB	1114	broad.mit.edu	37	chr20	5904215	5904215	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaattatctcaactacggTgaggaaggagccccagggaa	12	8	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:5904215T>C	uc002wmg.2	+	4	1731	c.1425T>C	c.(1423-1425)GGT>GGC	p.G475G	CHGB_uc010zqz.1_Silent_p.G158G	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	475						extracellular region	hormone activity			breast(3)|skin(2)|ovary(1)	6						TCAACTACGGTGAGGAAGGAG	0.512													C	5904215	T	C	5904215	2	2	15	1	0	0	0	0	0	0	0	1	3339	1683	59	3		3	CHGB	20	5904215	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	1701994	5904215	57121305	768	12209											
BTBD3	22903	broad.mit.edu	37	chr20	11898985	11898985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttgatgcttccagagaCggtaaagaacaggtccaaga	10	9	1	4			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:11898985C>T	uc002wnz.2	+	1	421	c.62C>T	c.(61-63)ACG>ATG	p.T21M	BTBD3_uc002wny.2_Translation_Start_Site|BTBD3_uc002woa.2_Translation_Start_Site|BTBD3_uc010zrf.1_Translation_Start_Site|BTBD3_uc010zrg.1_5'Flank|BTBD3_uc010zrh.1_5'Flank	NM_014962	NP_055777	Q9Y2F9	BTBD3_HUMAN	BTB/POZ domain containing protein 3 isoform a	21										ovary(2)|central_nervous_system(1)	3						CTTCCAGAGACGGTAAAGAAC	0.333													T	11898985	C	T	11898985	3	4	15	1	0	0	0	0	1	0	0	0	1544	536	19	1	64	1	BTBD3	20	11898985	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	5994770	11898985	51126535	769	12210											
DTD1	92675	broad.mit.edu	37	chr20	18608856	18608856	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatcgccagctcccggcacTgctacctctgacccaaagca	8	17	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:18608856T>C	uc002wrf.3	+	4	617	c.456T>C	c.(454-456)ACT>ACC	p.T152T		NM_080820	NP_543010	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	152					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			ovary(2)	2						CTCCCGGCACTGCTACCTCTG	0.562													C	18608856	T	C	18608856	2	2	15	1	0	0	0	0	0	0	0	1	4786	1567	55	3		3	DTD1	20	18608856	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	6709871	18608856	44416664	770	12211											
GZF1	64412	broad.mit.edu	37	chr20	23345800	23345800	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgggggactacaggtgTccccaggaccaaagcccgga	15	11	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:23345800T>C	uc010gdb.2	+	3	954	c.780T>C	c.(778-780)TGT>TGC	p.C260C	GZF1_uc002wsy.2_Silent_p.C260C|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Silent_p.C260C	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	260					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ACTACAGGTGTCCCCAGGACC	0.532													C	23345800	T	C	23345800	2	2	15	1	0	0	0	0	0	0	0	1	6914	1673	58	3		3	GZF1	20	23345800	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	4736944	23345800	39679720	771	12212											
ACSS1	84532	broad.mit.edu	37	chr20	24993453	24993453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcctgtgctcacgatggCgtcctcaatctctgcggtcc	10	16	3	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:24993453C>T	uc002wub.2	-	11	2580	c.1702G>A	c.(1702-1704)GCC>ACC	p.A568T	ACSS1_uc002wuc.2_Missense_Mutation_p.A566T|ACSS1_uc010gdc.2_Missense_Mutation_p.A363T|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Missense_Mutation_p.A485T	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	568					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTCACGATGGCGTCCTCAATC	0.607													T	24993453	C	T	24993453	3	4	15	1	0	0	0	0	1	0	0	0	188	768	27	1	383	1	ACSS1	20	24993453	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1647653	24993453	38032067	772	12213											
TPX2	22974	broad.mit.edu	37	chr20	30345300	30345300	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtcacaagttaaaagctcTtattcctatgatgccccctc	5	12	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:30345300T>G	uc002wwp.1	+	3	719	c.21T>G	c.(19-21)TCT>TCG	p.S7S	TPX2_uc010gdv.1_Silent_p.S7S	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated protein homolog	7					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			large_intestine(1)|ovary(1)	2			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TTAAAAGCTCTTATTCCTATG	0.413													G	30345300	T	G	30345300	2	3	15	1	0	0	0	0	0	0	0	1	16429	1596	56	5		5	TPX2	20	30345300	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	5351847	30345300	32680220	773	12214											
MYLK2	85366	broad.mit.edu	37	chr20	30411335	30411335	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatggtggagctgaggacCgggaatgtcagcagtgaatt	16	7	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:30411335C>T	uc002wwq.2	+	5	930	c.828C>T	c.(826-828)ACC>ACT	p.T276T		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	skeletal myosin light chain kinase	276					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGCTGAGGACCGGGAATGTCA	0.627											OREG0025856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	30411335	C	T	30411335	2	4	15	1	0	0	0	0	0	0	0	1	10057	639	23	1		1	MYLK2	20	30411335	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	66035	30411335	32614185	774	12215											
SUN5	140732	broad.mit.edu	37	chr20	31577498	31577498	+	Frame_Shift_Del	DEL	T	T	-													cttcattattttctgggccaTtttttgctgaaaaggcagaa							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:31577498delT	uc002wyi.2	-	9	634	c.541delA	c.(541-543)ATGfs	p.M181fs		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	sperm associated antigen 4-like	181	Potential.				spermatogenesis					skin(1)	1						TTCTGGGCCATTTTTTGCTGA	0.507													-	31577498	T	-	31577498	7	5	15	1	0	1	0	1	0	0	0	0	15391	1493	52	0	618	0	SUN5	20	31577498	Frame_Shift_Del	DEL	T	TCGA-BR-4280-01A-01D-1126-08	1166163	31577498	31448022	775	12216											
SAMHD1	25939	broad.mit.edu	37	chr20	35521337	35521337	+	Nonstop_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaactgactacagacattcAcattgggtcatctttaaaaa	5	9	3	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:35521337A>C	uc002xgh.1	-	16	2009	c.1879T>G	c.(1879-1881)TGA>GGA	p.*627G	C20orf118_uc002xgg.1_3'UTR|SAMHD1_uc010gft.1_RNA	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	627					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity				0		Myeloproliferative disorder(115;0.00878)				ACAGACATTCACATTGGGTCA	0.393													C	35521337	A	C	35521337	4	2	15	1	0	0	0	0	0	0	0	0	13828	172	6	5	5	5	SAMHD1	20	35521337	Nonstop_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	3943839	35521337	27504183	776	12217											
TGM2	7052	broad.mit.edu	37	chr20	36760864	36760864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactccgtaaggcagtcacGgtatttctcatagaggatgc	12	9	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:36760864G>A	uc002xhr.2	-	11	1754	c.1654C>T	c.(1654-1656)CGT>TGT	p.R552C	TGM2_uc002xhq.2_Missense_Mutation_p.R153C|TGM2_uc010zvx.1_Missense_Mutation_p.R471C|TGM2_uc010zvy.1_Missense_Mutation_p.R492C|TGM2_uc002xhs.1_Missense_Mutation_p.R528C	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	552					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	AGGCAGTCACGGTATTTCTCA	0.547													A	36760864	G	A	36760864	3	1	15	1	0	0	0	0	1	0	0	0	15827	1116	39	1	421	1	TGM2	20	36760864	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1239527	36760864	26264656	777	12218											
SERINC3	10955	broad.mit.edu	37	chr20	43142670	43142670	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaacatgaggcaccgctgcaGaggcatggaacctggaatga	13	9	0	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:43142670G>A	uc002xme.2	-	2	185	c.51C>T	c.(49-51)CTC>CTT	p.L17L	SERINC3_uc002xmf.1_Silent_p.L17L|SERINC3_uc010ggs.1_Silent_p.L10L|SERINC3_uc010zwp.1_5'UTR	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	17	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			CACCGCTGCAGAGGCATGGAA	0.498													A	43142670	G	A	43142670	2	1	15	1	0	0	0	0	0	0	0	1	14081	929	33	4		4	SERINC3	20	43142670	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	6381806	43142670	19882850	778	12219											
SYS1	90196	broad.mit.edu	37	chr20	43995615	43995615	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggctgctggttctacagcTcccgtttcccctcggcgctg	12	15	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:43995615T>G	uc002xnv.2	+	4	589	c.331T>G	c.(331-333)TCC>GCC	p.S111A	SYS1_uc010gha.2_RNA|SYS1_uc002xnw.1_Intron|SYS1-DBNDD2_uc002xnx.2_Intron	NM_033542	NP_291020	Q8N2H4	SYS1_HUMAN	SYS1 Golgi-localized integral membrane protein	111	Helical; (Potential).				protein transport	Golgi membrane|integral to membrane				skin(1)	1		Myeloproliferative disorder(115;0.0122)				GTTCTACAGCTCCCGTTTCCC	0.582													G	43995615	T	G	43995615	3	3	15	1	0	0	0	0	1	0	0	0	15461	1551	54	5	341	5	SYS1	20	43995615	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	852945	43995615	19029905	779	12220											
WFDC13	164237	broad.mit.edu	37	chr20	44333226	44333226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagaaacatttcaaaagCgcaacaggtaagagatatct	7	8	3	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:44333226C>T	uc002xpd.2	+	2	340	c.232C>T	c.(232-234)CGC>TGC	p.R78C	WFDC10B_uc002xpb.2_Intron|WFDC10B_uc002xpc.2_Intron	NM_172005	NP_742002	Q8IUB5	WFD13_HUMAN	WAP four-disulfide core domain 13 precursor	78						extracellular region	peptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)				ATTTCAAAAGCGCAACAGGTA	0.483													T	44333226	C	T	44333226	3	4	15	1	0	0	0	0	1	0	0	0	17348	768	27	1	238	1	WFDC13	20	44333226	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	337611	44333226	18692294	780	12221											
ZSWIM3	140831	broad.mit.edu	37	chr20	44486535	44486535	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcctacaaaagggagaAcaggtgctccttcattctca	9	12	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:44486535A>C	uc002xqd.2	+	1	274	c.71A>C	c.(70-72)AAC>ACC	p.N24T	ACOT8_uc002xqa.1_5'Flank|ACOT8_uc010zxe.1_5'Flank|ACOT8_uc002xqc.1_5'Flank|ACOT8_uc010zxf.1_5'Flank|ZSWIM3_uc010zxg.1_5'UTR	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	24							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				AAAAGGGAGAACAGGTGCTCC	0.542													C	44486535	A	C	44486535	3	2	15	1	0	0	0	0	1	0	0	0	18239	43	2	5	73	5	ZSWIM3	20	44486535	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	153309	44486535	18538985	781	12222											
EYA2	2139	broad.mit.edu	37	chr20	45702826	45702826	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcctaccccggcttcccccaGagccagtacccccagtatta	6	19	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:45702826G>T	uc002xsm.2	+	7	887	c.513G>T	c.(511-513)CAG>CAT	p.Q171H	EYA2_uc010ghp.2_Missense_Mutation_p.Q171H|EYA2_uc002xsn.2_Missense_Mutation_p.Q176H|EYA2_uc002xso.2_Missense_Mutation_p.Q171H|EYA2_uc002xsp.2_Missense_Mutation_p.Q171H|EYA2_uc002xsq.2_Missense_Mutation_p.Q171H	NM_005244	NP_005235	O00167	EYA2_HUMAN	eyes absent 2 isoform a	171					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0241)				GCTTCCCCCAGAGCCAGTACC	0.597													T	45702826	G	T	45702826	3	4	15	1	0	0	0	0	1	0	0	0	5329	933	33	5	535	5	EYA2	20	45702826	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1216291	45702826	17322694	782	12223											
ARFGEF2	10564	broad.mit.edu	37	chr20	47589799	47589799	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagggaagaagtggacatgAgctgggaatgacacctctgc	14	8	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:47589799A>C	uc002xtx.3	+	12	1795	c.1643A>C	c.(1642-1644)GAG>GCG	p.E548A		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	548					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGTGGACATGAGCTGGGAATG	0.294													C	47589799	A	C	47589799	3	2	15	1	0	0	0	0	1	0	0	0	853	304	11	5	1689	5	ARFGEF2	20	47589799	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1886973	47589799	15435721	783	12224											
ZNFX1	57169	broad.mit.edu	37	chr20	47887312	47887312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagggcctctcatccaagTgcacttcattgtaggtaggg	13	9	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:47887312T>C	uc002xui.2	-	3	1284	c.1037A>G	c.(1036-1038)CAC>CGC	p.H346R		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	346							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTCATCCAAGTGCACTTCATT	0.493													C	47887312	T	C	47887312	3	2	15	1	0	0	0	0	1	0	0	0	18202	1696	59	3	4767	3	ZNFX1	20	47887312	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	297513	47887312	15138208	784	12225											
PTGIS	5740	broad.mit.edu	37	chr20	48127617	48127617	+	Frame_Shift_Del	DEL	C	C	-													caggcagtgattgtgccccgCcccccagggcatgttgtaat							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:48127617delC	uc002xut.2	-	9	1360	c.1306delG	c.(1306-1308)GCGfs	p.A436fs	PTGIS_uc010zyi.1_Frame_Shift_Del_p.A297fs	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	prostaglandin I2 synthase	436					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TTGTGCCCCGCCCCCCAGGGC	0.547													-	48127617	C	-	48127617	7	5	15	1	0	1	0	1	0	0	0	0	12752	739	26	0	204	0	PTGIS	20	48127617	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	240305	48127617	14897903	785	12226											
PTGIS	5740	broad.mit.edu	37	chr20	48166644	48166644	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcatcctcgtgaggaAgctggcagcatcttttccaa	8	13	2	1	rs148875055		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:48166644A>G	uc002xut.2	-	2	211	c.157T>C	c.(157-159)TTC>CTC	p.F53L	PTGIS_uc010zyi.1_5'UTR	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	prostaglandin I2 synthase	53					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	CTCGTGAGGAAGCTGGCAGCA	0.577													G	48166644	A	G	48166644	3	3	15	1	0	0	0	0	1	0	0	0	12752	72	3	3	1381	3	PTGIS	20	48166644	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	39027	48166644	14858876	786	12227											
PFDN4	5203	broad.mit.edu	37	chr20	52830939	52830939	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatcaacaaaagataaacaAatttgcacggaatacaagta	6	6	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:52830939A>C	uc002xwx.2	+	2	212	c.74A>C	c.(73-75)AAA>ACA	p.K25T		NM_002623	NP_002614	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	25					'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding				0	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			AAGATAAACAAATTTGCACGG	0.279													C	52830939	A	C	52830939	3	2	15	1	0	0	0	0	1	0	0	0	11757	14	1	5	80	5	PFDN4	20	52830939	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	4664295	52830939	10194581	787	12228											
CASS4	57091	broad.mit.edu	37	chr20	55027197	55027197	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtacccagaggcacatttcCtttggatgaagatgtcagct	10	9	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:55027197C>A	uc002xxp.2	+	6	1190	c.965C>A	c.(964-966)CCT>CAT	p.P322H	CASS4_uc002xxq.3_Missense_Mutation_p.P322H|CASS4_uc002xxr.2_Missense_Mutation_p.P322H|CASS4_uc010zze.1_Missense_Mutation_p.P268H|CASS4_uc010gio.2_Intron	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	322					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						GGCACATTTCCTTTGGATGAA	0.443													A	55027197	C	A	55027197	3	1	15	1	0	0	0	0	1	0	0	0	2683	681	24	5	983	5	CASS4	20	55027197	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2196258	55027197	7998323	788	12229											
STX16	8675	broad.mit.edu	37	chr20	57243094	57243094	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatgaaagaattggccagcCttcatgacaagcatttaaac	8	8	1	4			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:57243094C>A	uc002xzi.2	+	4	1039	c.304C>A	c.(304-306)CTT>ATT	p.L102I	STX16_uc010zzq.1_5'UTR|STX16_uc002xzk.2_Missense_Mutation_p.L85I|STX16_uc002xzm.2_Missense_Mutation_p.L98I|STX16_uc002xzj.2_Missense_Mutation_p.L81I|STX16_uc002xzl.2_5'UTR	NM_001001433	NP_001001433	O14662	STX16_HUMAN	syntaxin 16 isoform a	102	Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			ovary(1)	1	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			ATTGGCCAGCCTTCATGACAA	0.473													A	57243094	C	A	57243094	3	1	15	1	0	0	0	0	1	0	0	0	15338	681	24	5	318	5	STX16	20	57243094	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2215897	57243094	5782426	789	12230											
ZBTB46	140685	broad.mit.edu	37	chr20	62407094	62407094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagccgtcatcccccagcaCgtcggccttcagcgacagca	11	17	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:62407094C>T	uc002ygv.1	-	3	1360	c.1159G>A	c.(1159-1161)GTG>ATG	p.V387M	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TCCCCCAGCACGTCGGCCTTC	0.672											OREG0026130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	62407094	C	T	62407094	3	4	15	1	0	0	0	0	1	0	0	0	17544	536	19	1	622	1	ZBTB46	20	62407094	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	5164000	62407094	618426	790	12231											
RGS19	10287	broad.mit.edu	37	chr20	62705590	62705590	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcggccttcagctcctcGcaggccaaccagaagagcat	10	16	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:62705590G>A	uc002yhy.2	-	5	636	c.369C>T	c.(367-369)TGC>TGT	p.C123C	RGS19_uc002yhz.2_Silent_p.C101C|RGS19_uc002yia.2_Silent_p.C123C|RGS19_uc002yib.2_Silent_p.C123C	NM_005873	NP_005864	P49795	RGS19_HUMAN	G protein signalling regulator 19	123	RGS.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			skin(1)	1	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TCAGCTCCTCGCAGGCCAACC	0.607													A	62705590	G	A	62705590	2	1	15	1	0	0	0	0	0	0	0	1	13301	1079	38	1		1	RGS19	20	62705590	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	298496	62705590	319930	791	12232											
OPRL1	4987	broad.mit.edu	37	chr20	62730104	62730104	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcagcattgccaaggaCgtggccctggcctgcaagac	14	13	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr20:62730104C>T	uc002yic.2	+	5	1467	c.1065C>T	c.(1063-1065)GAC>GAT	p.D355D	OPRL1_uc002yid.2_Silent_p.D355D|OPRL1_uc002yif.3_Silent_p.D350D	NM_182647	NP_872588	P41146	OPRX_HUMAN	opiate receptor-like 1	355	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TTGCCAAGGACGTGGCCCTGG	0.647													T	62730104	C	T	62730104	2	4	15	1	0	0	0	0	0	0	0	1	10886	535	19	1		1	OPRL1	20	62730104	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	24514	62730104	295416	792	12233											
TPTE	7179	broad.mit.edu	37	chr21	10951287	10951287	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctacaaatactcgaagaAgaacatccatgagaaaaaat	5	7	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr21:10951287A>C	uc002yip.1	-	10	793	c.425T>G	c.(424-426)CTT>CGT	p.L142R	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.L124R|TPTE_uc002yir.1_Missense_Mutation_p.L104R|TPTE_uc010gkv.1_Missense_Mutation_p.L4R	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	142	Helical; (Potential).				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACTCGAAGAAGAACATCCAT	0.269													C	10951287	A	C	10951287	3	2	15	1	0	0	0	0	1	0	0	0	16427	72	3	5	1290	5	TPTE	21	10951287	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08		10951287	37178608	793	12234											
ADAMTS5	11096	broad.mit.edu	37	chr21	28338331	28338331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgatagaagcagtggctcCggtggcgccagggcgcactc	15	14	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr21:28338331C>T	uc002ymg.2	-	1	1109	c.380G>A	c.(379-381)CGG>CAG	p.R127Q		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	127					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						GCAGTGGCTCCGGTGGCGCCA	0.667													T	28338331	C	T	28338331	3	4	15	1	0	0	0	0	1	0	0	0	269	652	23	1	2444	1	ADAMTS5	21	28338331	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	17387044	28338331	19791564	794	12235											
RNF160	26046	broad.mit.edu	37	chr21	30316746	30316746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaaagcaaactgtggatgCcttgggaaaaaaattctttc	9	6	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr21:30316746C>T	uc002ymr.2	-	22	4092	c.4079G>A	c.(4078-4080)GGC>GAC	p.G1360D		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	1314							ligase activity|zinc ion binding				0						ACTGTGGATGCCTTGGGAAAA	0.373													T	30316746	C	T	30316746	3	4	15	1	0	0	0	0	1	0	0	0	13455	739	26	2	1395	2	RNF160	21	30316746	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1978415	30316746	17813149	795	12236											
KRTAP19-5	337972	broad.mit.edu	37	chr21	31874258	31874258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcggtatccatagcctcCgaagccagagccgtatccgt	11	14	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr21:31874258C>T	uc011ada.1	-	1	151	c.151G>A	c.(151-153)GGA>AGA	p.G51R		NM_181611	NP_853642	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	51						intermediate filament	protein binding				0						CCATAGCCTCCGAAGCCAGAG	0.547													T	31874258	C	T	31874258	3	4	15	1	0	0	0	0	1	0	0	0	8532	661	23	1	70	1	KRTAP19-5	21	31874258	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1557512	31874258	16255637	796	12237											
DOPEY2	9980	broad.mit.edu	37	chr21	37605234	37605234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaccattcccagtccctggCgcttgtcattgaagacaaga	8	12	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr21:37605234C>T	uc002yvg.2	+	15	2562	c.2483C>T	c.(2482-2484)GCG>GTG	p.A828V	DOPEY2_uc011aeb.1_Missense_Mutation_p.A828V	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	828					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						CAGTCCCTGGCGCTTGTCATT	0.502													T	37605234	C	T	37605234	3	4	15	1	0	0	0	0	1	0	0	0	4708	768	27	1	2537	1	DOPEY2	21	37605234	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	5730976	37605234	10524661	797	12238											
MORC3	23515	broad.mit.edu	37	chr21	37710204	37710204	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttggaagtcataaaagcGgagcatgttgttgttccaat	10	6	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr21:37710204G>A	uc002yvi.2	+	4	496	c.420G>A	c.(418-420)GCG>GCA	p.A140A		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	140					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						TCATAAAAGCGGAGCATGTTG	0.403													A	37710204	G	A	37710204	2	1	15	1	0	0	0	0	0	0	0	1	9703	1103	39	1		1	MORC3	21	37710204	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	104970	37710204	10419691	798	12239											
CBS	875	broad.mit.edu	37	chr21	44474020	44474020	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccgctcctgggcggccacGaagttcagcaagtcaatggc	12	14	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr21:44474020G>A	uc002zcu.2	-	17	1871	c.1626C>T	c.(1624-1626)TTC>TTT	p.F542F	CBS_uc002zcs.1_Silent_p.F437F|CBS_uc002zct.2_Silent_p.F542F|CBS_uc002zcw.3_Silent_p.F542F|CBS_uc002zcv.2_Silent_p.F542F	NM_000071	NP_000062	P35520	CBS_HUMAN	cystathionine-beta-synthase	542					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding				0					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	GGGCGGCCACGAAGTTCAGCA	0.652													A	44474020	G	A	44474020	2	1	15	1	0	0	0	0	0	0	0	1	2711	1049	37	1		1	CBS	21	44474020	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	6763816	44474020	3655875	799	12240											
ADARB1	104	broad.mit.edu	37	chr21	46595860	46595860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgtcctccccaagaacGccctgatgcagctgaatgag	11	15	0	4			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr21:46595860G>A	uc002zgy.2	+	4	679	c.244G>A	c.(244-246)GCC>ACC	p.A82T	ADARB1_uc002zgr.2_Missense_Mutation_p.A82T|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.A82T|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.A82T|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA|ADARB1_uc011afo.1_Missense_Mutation_p.A131T	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	82	DRBM 1.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		CCCCAAGAACGCCCTGATGCA	0.597													A	46595860	G	A	46595860	3	1	15	1	0	0	0	0	1	0	0	0	282	1087	38	1	250	1	ADARB1	21	46595860	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	2121840	46595860	1534035	800	12241											
PCNT	5116	broad.mit.edu	37	chr21	47858077	47858077	+	Splice_Site	DEL	A	A	-													tttattttcttttctccaagAaaaaaatggcagcagagctg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr21:47858076_47858076GA>G	uc002zji.4	+	41	9207	c.9100_splice	c.e41-1	p.K3034_splice	PCNT_uc002zjj.3_Splice_Site_p.K2837_splice	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	3034	Interaction with NEK2.				G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTTTCTCCAAGAAAAAAATGG	0.388													-	47858077	A	-	47858077	8	5	15	1	0	1	0	1	0	0	1	0	11590	260	9	0	9262	0	PCNT	21	47858077	Splice_Site	DEL	A	TCGA-BR-4280-01A-01D-1126-08	1262217	47858077	271818	801	12242											
CDC45	8318	broad.mit.edu	37	chr22	19495010	19495010	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtctgtgcatggacagaAgcggctccaggagttccttg	15	9	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:19495010A>G	uc002zpr.2	+	11	1002	c.926A>G	c.(925-927)AAG>AGG	p.K309R	CDC45_uc011agz.1_Missense_Mutation_p.K304R|CDC45_uc011aha.1_Missense_Mutation_p.K341R|CDC45_uc002zps.2_Missense_Mutation_p.K309R|CDC45_uc002zpt.2_Missense_Mutation_p.K263R	NM_003504	NP_003495	O75419	CDC45_HUMAN	CDC45-like	309					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			lung(1)	1						CATGGACAGAAGCGGCTCCAG	0.612													G	19495010	A	G	19495010	3	3	15	1	0	0	0	0	1	0	0	0	3081	72	3	3	1068	3	CDC45	22	19495010	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08		19495010	31809556	802	12243											
COMT	1312	broad.mit.edu	37	chr22	19951793	19951793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcgaccactggaaggacCggtacctgccggacacgctt	11	15	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:19951793C>T	uc002zqu.2	+	5	835	c.586C>T	c.(586-588)CGG>TGG	p.R196W	COMT_uc002zqt.2_Missense_Mutation_p.R196W|COMT_uc002zqv.2_Missense_Mutation_p.R196W|COMT_uc002zqw.2_Missense_Mutation_p.R196W|COMT_uc011ahd.1_Missense_Mutation_p.R196W|COMT_uc002zqx.2_Missense_Mutation_p.R196W	NM_000754	NP_000745	P21964	COMT_HUMAN	catechol-O-methyltransferase isoform MB-COMT	196					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			ovary(1)	1	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	CTGGAAGGACCGGTACCTGCC	0.597													T	19951793	C	T	19951793	3	4	15	1	0	0	0	0	1	0	0	0	3725	643	23	1	596	1	COMT	22	19951793	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	456783	19951793	31352773	803	12244											
TRMT2A	27037	broad.mit.edu	37	chr22	20103762	20103762	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgggcggcctttccagAgggcaccatgcaaaacgcgc	14	12	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:20103762A>G	uc002zrk.1	-	3	613	c.398T>C	c.(397-399)CTC>CCC	p.L133P	TRMT2A_uc002zrl.1_Missense_Mutation_p.L133P|TRMT2A_uc002zrm.1_5'UTR|TRMT2A_uc002zrn.1_Missense_Mutation_p.L133P|TRMT2A_uc011ahk.1_Missense_Mutation_p.L133P|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	HpaII tiny fragments locus 9C	133	RRM.				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(1)	1						GCCTTTCCAGAGGGCACCATG	0.637													G	20103762	A	G	20103762	3	3	15	1	0	0	0	0	1	0	0	0	16562	304	11	3	1523	3	TRMT2A	22	20103762	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	151969	20103762	31200804	804	12245											
P2RX6	9127	broad.mit.edu	37	chr22	21377597	21377597	+	Frame_Shift_Del	DEL	T	T	-													gagacctgggaccccacctaTtttaagcactgccgctatga							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:21377597delT	uc010gsu.1	+	7	672	c.672delT	c.(670-672)TATfs	p.Y224fs	P2RX6_uc002ztz.2_Frame_Shift_Del_p.Y198fs|P2RX6_uc002zua.2_RNA|P2RX6_uc002zuc.1_RNA	NM_005446	NP_005437	O15547	P2RX6_HUMAN	purinergic receptor P2X6 isoform 1	224	Extracellular (Potential).				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0						ACCCCACCTATTTTAAGCACT	0.592													-	21377597	T	-	21377597	7	5	15	1	0	1	0	1	0	0	0	0	11344	1500	52	0	698	0	P2RX6	22	21377597	Frame_Shift_Del	DEL	T	TCGA-BR-4280-01A-01D-1126-08	1273835	21377597	29926969	805	12246											
HIC2	23119	broad.mit.edu	37	chr22	21800714	21800714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttcaagtgttcggtctgCgagaagacctacaaggaccc	10	13	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:21800714C>T	uc002zur.3	+	3	1760	c.1530C>T	c.(1528-1530)TGC>TGT	p.C510C	HIC2_uc002zus.3_Silent_p.C510C	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	510	C2H2-type 2.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GTTCGGTCTGCGAGAAGACCT	0.642													T	21800714	C	T	21800714	2	4	15	1	0	0	0	0	0	0	0	1	7102	776	27	1		1	HIC2	22	21800714	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	423117	21800714	29503852	806	12247											
MMP11	4320	broad.mit.edu	37	chr22	24124456	24124456	+	Frame_Shift_Del	DEL	C	C	-													ggtgaaaagccagtcctgggCcccgcacccctcaccgagct							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:24124456delC	uc002zxx.2	+	7	1141	c.1119delC	c.(1117-1119)GGCfs	p.G373fs	MMP11_uc002zxy.2_Intron|MMP11_uc002zxz.2_RNA	NM_005940	NP_005931	P24347	MMP11_HUMAN	matrix metalloproteinase 11 preproprotein	373	Hemopexin-like 2.				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(2)|large_intestine(1)	3		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				cagtcctgggccccgcacccc	0.443													-	24124456	C	-	24124456	7	5	15	1	0	1	0	1	0	0	0	0	9650	726	26	0	1145	0	MMP11	22	24124456	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	2323742	24124456	27180110	807	12248											
HSCB	150274	broad.mit.edu	37	chr22	29141880	29141880	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatggaatagagattcctgAaaggacagattatgaaatgg	11	5	0	4			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:29141880A>G	uc003aea.2	+	4	493	c.452A>G	c.(451-453)GAA>GGA	p.E151G		NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN	J-type co-chaperone HSC20 precursor	151					iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)	1						GAGATTCCTGAAAGGACAGAT	0.378													G	29141880	A	G	29141880	3	3	15	1	0	0	0	0	1	0	0	0	7374	246	9	3	466	3	HSCB	22	29141880	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	5017424	29141880	22162686	808	12249											
NEFH	4744	broad.mit.edu	37	chr22	29885456	29885456	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggccaagtccccagtgaaGgaagaagcaaagtcaccggc	12	11	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:29885456G>T	uc003afo.2	+	4	1898	c.1827G>T	c.(1825-1827)AAG>AAT	p.K609N	NEFH_uc003afp.2_Intron	NM_021076	NP_066554	P12036	NFH_HUMAN	neurofilament, heavy polypeptide 200kDa	609	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament					0						ccccagtgaaggaagaagcaa	0.468													T	29885456	G	T	29885456	3	4	15	1	0	0	0	0	1	0	0	0	10314	991	35	5	1841	5	NEFH	22	29885456	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	743576	29885456	21419110	809	12250											
CABP7	164633	broad.mit.edu	37	chr22	30125551	30125551	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtgctgcgcagtggcaTgaagtagacgccacctggat	14	11	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:30125551T>C	uc003agl.2	+	5	711	c.641T>C	c.(640-642)ATG>ACG	p.M214T		NM_182527	NP_872333	Q86V35	CABP7_HUMAN	calcium binding protein 7	214	Extracellular (Potential).					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding				0			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			CGCAGTGGCATGAAGTAGACG	0.657													C	30125551	T	C	30125551	3	2	15	1	0	0	0	0	1	0	0	0	2535	1464	51	3	659	3	CABP7	22	30125551	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	240095	30125551	21179015	810	12251											
TBC1D10A	83874	broad.mit.edu	37	chr22	30695501	30695501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactgccaagcacggccccGcagagaaggcgggatgccct	14	14	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:30695501G>A	uc011akt.1	-	3	373	c.349C>T	c.(349-351)CGG>TGG	p.R117W	GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_5'UTR|TBC1D10A_uc003ahj.3_Missense_Mutation_p.R29W|TBC1D10A_uc010gvu.2_Missense_Mutation_p.R124W|TBC1D10A_uc003ahk.3_Missense_Mutation_p.R117W	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	117	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			ovary(1)	1						GCACGGCCCCGCAGAGAAGGC	0.582													A	30695501	G	A	30695501	3	1	15	1	0	0	0	0	1	0	0	0	15595	1086	38	1	1205	1	TBC1D10A	22	30695501	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	569950	30695501	20609065	811	12252											
FBXO7	25793	broad.mit.edu	37	chr22	32880008	32880008	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaagggcaagtgccacAttcattagagaccttgtatc	12	8	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:32880008A>C	uc003amq.2	+	3	825	c.542A>C	c.(541-543)CAT>CCT	p.H181P	FBXO7_uc003amp.1_Missense_Mutation_p.H67P|FBXO7_uc003amr.2_Missense_Mutation_p.H67P|FBXO7_uc003ams.2_Missense_Mutation_p.H25P|FBXO7_uc003amt.2_Missense_Mutation_p.H102P|FBXO7_uc003amu.2_Missense_Mutation_p.H67P	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	F-box only protein 7 isoform 1	181					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)	1						CAAGTGCCACATTCATTAGAG	0.453													C	32880008	A	C	32880008	3	2	15	1	0	0	0	0	1	0	0	0	5760	217	8	5	593	5	FBXO7	22	32880008	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	2184507	32880008	18424558	812	12253											
MCM5	4174	broad.mit.edu	37	chr22	35812348	35812348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagatgcgagaagatgaccGtgtggcaatccacgaagcca	12	9	0	4			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:35812348G>A	uc003anu.3	+	11	1458	c.1364G>A	c.(1363-1365)CGT>CAT	p.R455H	MCM5_uc010gwr.2_Missense_Mutation_p.R264H|MCM5_uc003anv.3_Missense_Mutation_p.R412H|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_Missense_Mutation_p.R239H	NM_006739	NP_006730	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	455	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)	1						GAAGATGACCGTGTGGCAATC	0.557													A	35812348	G	A	35812348	3	1	15	1	0	0	0	0	1	0	0	0	9390	1145	40	1	1402	1	MCM5	22	35812348	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	2932340	35812348	15492218	813	12254											
GRAP2	9402	broad.mit.edu	37	chr22	40366977	40366977	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgagctggggttccacagCggggaggtggtggaggtcct	20	8	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:40366977C>T	uc003ayh.1	+	8	1145	c.882C>T	c.(880-882)AGC>AGT	p.S294S	GRAP2_uc003ayi.2_RNA|GRAP2_uc011aom.1_Silent_p.S268S|GRAP2_uc011aon.1_Silent_p.S228S|GRAP2_uc010gya.1_Silent_p.S294S|GRAP2_uc011aoo.1_Silent_p.S222S|GRAP2_uc011aop.1_Silent_p.S254S|GRAP2_uc011aoq.1_Silent_p.S181S|GRAP2_uc003ayj.1_Silent_p.S294S	NM_004810	NP_004801	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	294	SH3 2.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						GGTTCCACAGCGGGGAGGTGG	0.647													T	40366977	C	T	40366977	2	4	15	1	0	0	0	0	0	0	0	1	6754	767	27	1		1	GRAP2	22	40366977	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	4554629	40366977	10937589	814	12255											
TOB2	10766	broad.mit.edu	37	chr22	41832689	41832689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctgttggtgggtgagcGggccatgcgaggctgctgtg	20	8	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:41832689G>A	uc003azz.1	-	2	1368	c.661C>T	c.(661-663)CGC>TGC	p.R221C		NM_016272	NP_057356	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	221					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				ovary(1)	1						GTGGGTGAGCGGGCCATGCGA	0.592													A	41832689	G	A	41832689	3	1	15	1	0	0	0	0	1	0	0	0	16345	1116	39	1	377	1	TOB2	22	41832689	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1465712	41832689	9471877	815	12256											
PMM1	5372	broad.mit.edu	37	chr22	41973879	41973879	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtccaggctatccaggcagTagcgcttgtcccagccctcg	12	15	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:41973879T>C	uc003bal.2	-	7	661	c.599A>G	c.(598-600)TAC>TGC	p.Y200C		NM_002676	NP_002667	Q92871	PMM1_HUMAN	phosphomannomutase 1	200					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			ovary(1)	1						ATCCAGGCAGTAGCGCTTGTC	0.607													C	41973879	T	C	41973879	3	2	15	1	0	0	0	0	1	0	0	0	12136	1638	57	3	197	3	PMM1	22	41973879	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	141190	41973879	9330687	816	12257											
NAGA	4668	broad.mit.edu	37	chr22	42458950	42458950	+	Frame_Shift_Del	DEL	G	G	-													caggtctgtggacatcaagaGgggggctgccagcaccgtcc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:42458950delG	uc003bbx.2	-	8	975	c.838delC	c.(838-840)CTCfs	p.L280fs	NAGA_uc003bby.2_Frame_Shift_Del_p.L280fs|NAGA_uc003bbw.3_Frame_Shift_Del_p.L280fs	NM_000262	NP_000253	P17050	NAGAB_HUMAN	alpha-N-acetylgalactosaminidase precursor	280					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)	1						GACATCAAGAGGGGGGCTGCC	0.557													-	42458950	G	-	42458950	7	5	15	1	0	1	0	1	0	0	0	0	10141	1000	35	0	409	0	NAGA	22	42458950	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	485071	42458950	8845616	817	12258											
PNPLA5	150379	broad.mit.edu	37	chr22	44277498	44277498	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcgagggccatgttcctcAgcaggccctgcatccaccac	9	18	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:44277498A>G	uc003beg.2	-	8	1236	c.1139T>C	c.(1138-1140)CTG>CCG	p.L380P	PNPLA5_uc011aqc.1_Missense_Mutation_p.L240P|PNPLA5_uc003beh.2_Missense_Mutation_p.L266P	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	380					lipid catabolic process		hydrolase activity				0		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CATGTTCCTCAGCAGGCCCTG	0.657													G	44277498	A	G	44277498	3	3	15	1	0	0	0	0	1	0	0	0	12168	188	7	3	158	3	PNPLA5	22	44277498	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1818548	44277498	7027068	818	12259											
PRR5-ARHGAP8	553158	broad.mit.edu	37	chr22	45182488	45182488	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcattctgcaggtggcaggTagggccccagctgggcagtc	17	11	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:45182488T>C	uc003bfd.2	+	8	1113	c.841_splice	c.e8+2	p.G281_splice	PRR5-ARHGAP8_uc003bfc.2_Splice_Site_p.G158_splice|PRR5-ARHGAP8_uc011aqi.1_Splice_Site_p.G149_splice|PRR5-ARHGAP8_uc011aqj.1_Splice_Site_p.G63_splice|ARHGAP8_uc003bfi.2_Splice_Site_p.G27_splice|ARHGAP8_uc010gzv.2_Splice_Site_p.G27_splice|ARHGAP8_uc003bfj.2_Splice_Site_p.G27_splice|ARHGAP8_uc003bfk.2_Splice_Site_p.G27_splice|ARHGAP8_uc003bfl.2_Splice_Site|PRR5-ARHGAP8_uc003bfg.1_Splice_Site_p.G63_splice	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2											skin(2)	2						AGGTGGCAGGTAGGGCCCCAG	0.647													C	45182488	T	C	45182488	5	2	15	1	0	0	0	0	0	0	1	0	12601	1652	57	3	465	3	PRR5-ARHGAP8	22	45182488	Splice_Site	SNP	T	TCGA-BR-4280-01A-01D-1126-08	904990	45182488	6122078	819	12260											
SHANK3	85358	broad.mit.edu	37	chr22	51117521	51117521	+	Frame_Shift_Del	DEL	G	G	-													cccctctaccacagcgccctGgggggtggggatgccctctg							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chr22:51117521delG	uc003bne.1	+	6	675	c.675delG	c.(673-675)CTGfs	p.L225fs		NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	225										central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		ACAGCGCCCTGGGGGGTGGGG	0.637													-	51117521	G	-	51117521	7	5	15	1	0	1	0	1	0	0	0	0	14266	1335	47	0	697	0	SHANK3	22	51117521	Frame_Shift_Del	DEL	G	TCGA-BR-4280-01A-01D-1126-08	5935033	51117521	187045	820	12261											
ARSE	415	broad.mit.edu	37	chrX	2878425	2878425	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taattgtatcttaccaagaaTggtgcagatgtaacatgttg	9	5	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:2878425T>C	uc004crc.3	-	2	267	c.17A>G	c.(16-18)CAT>CGT	p.H6R	ARSE_uc011mhi.1_Missense_Mutation_p.H6R|ARSE_uc011mhh.1_5'UTR	NM_000047	NP_000038	P51690	ARSE_HUMAN	arylsulfatase E precursor	6					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTACCAAGAATGGTGCAGATG	0.244													C	2878425	T	C	2878425	3	2	15	1	0	0	0	0	1	0	0	0	990	1464	51	3	1792	3	ARSE	23	2878425	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08		2878425	152392135	821	12262											
KAL1	3730	broad.mit.edu	37	chrX	8555928	8555928	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatagatcacaggctcaatAgaaatattgaatttcgagga	8	6	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:8555928A>C	uc004csf.2	-	5	783	c.633T>G	c.(631-633)TCT>TCG	p.S211S		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	211	Fibronectin type-III 1.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						CAGGCTCAATAGAAATATTGA	0.463													C	8555928	A	C	8555928	2	2	15	1	0	0	0	0	0	0	0	1	7974	407	15	5		5	KAL1	23	8555928	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	5677503	8555928	146714632	822	12263											
KAL1	3730	broad.mit.edu	37	chrX	8555953	8555953	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattgaatttcgaggaccacTtaacctccagctgtccagac	7	12	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:8555953T>G	uc004csf.2	-	5	758	c.608A>C	c.(607-609)AAG>ACG	p.K203T		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	203	Fibronectin type-III 1.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						CGAGGACCACTTAACCTCCAG	0.438													G	8555953	T	G	8555953	3	3	15	1	0	0	0	0	1	0	0	0	7974	1609	56	5	1474	5	KAL1	23	8555953	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	25	8555953	146714607	823	12264											
WWC3	55841	broad.mit.edu	37	chrX	10094344	10094344	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagctgcaggaagaactgCtggtatggcgccaggctccg	15	12	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:10094344C>T	uc004csx.3	+	15	2302	c.2104C>T	c.(2104-2106)CTG>TTG	p.L702L	WWC3_uc010nds.2_Silent_p.L366L|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	702	C2.									ovary(4)	4						GGAAGAACTGCTGGTATGGCG	0.517													T	10094344	C	T	10094344	2	4	15	1	0	0	0	0	0	0	0	1	17410	796	28	2		2	WWC3	23	10094344	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1538391	10094344	145176216	824	12265											
WWC3	55841	broad.mit.edu	37	chrX	10106971	10106971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgctgcgggaggccgagCggcaggtgggggtcccctgt	20	12	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:10106971C>T	uc004csx.3	+	21	3277	c.3079C>T	c.(3079-3081)CGG>TGG	p.R1027W	WWC3_uc010nds.2_Missense_Mutation_p.R691W|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	1027	Potential.									ovary(4)	4						GGAGGCCGAGCGGCAGGTGGG	0.711													T	10106971	C	T	10106971	3	4	15	1	0	0	0	0	1	0	0	0	17410	759	27	1	3157	1	WWC3	23	10106971	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	12627	10106971	145163589	825	12266											
ASB11	140456	broad.mit.edu	37	chrX	15307687	15307687	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaggccacatataggggAgttccgagctgaggcacctc	14	11	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:15307687A>G	uc004cwp.1	-	5	594	c.594T>C	c.(592-594)ACT>ACC	p.T198T	ASB11_uc004cwo.1_Silent_p.T177T|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Silent_p.T181T	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box-containing protein	198	ANK 5.				intracellular signal transduction					breast(2)|skin(1)	3	Hepatocellular(33;0.183)					CATATAGGGGAGTTCCGAGCT	0.443													G	15307687	A	G	15307687	2	3	15	1	0	0	0	0	0	0	0	1	1015	291	11	3		3	ASB11	23	15307687	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	5200716	15307687	139962873	826	12267											
SH3KBP1	30011	broad.mit.edu	37	chrX	19626152	19626152	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccttcccaccagcctacGtcgatgcagtcctagaaaac	6	16	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:19626152G>A	uc004czm.2	-	9	1225	c.909C>T	c.(907-909)GAC>GAT	p.D303D	SH3KBP1_uc011mje.1_Silent_p.D42D|SH3KBP1_uc011mjf.1_Silent_p.D65D|SH3KBP1_uc004czl.2_Silent_p.D266D	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	303	SH3 3.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0						ACCAGCCTACGTCGATGCAGT	0.537													A	19626152	G	A	19626152	2	1	15	1	0	0	0	0	0	0	0	1	14255	1136	40	1		1	SH3KBP1	23	19626152	Silent	SNP	G	TCGA-BR-4280-01A-01D-1126-08	4318465	19626152	135644408	827	12268											
YY2	404281	broad.mit.edu	37	chrX	21875159	21875159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggtgagttttccgtgaCtatgtggtcccctaacgata	13	8	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:21875159C>T	uc011mjp.1	+	1	557	c.557C>T	c.(556-558)ACT>ATT	p.T186I	MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Missense_Mutation_p.T404I|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	YY2 transcription factor	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2						TTTTCCGTGACTATGTGGTCC	0.542													T	21875159	C	T	21875159	3	4	15	1	0	0	0	0	1	0	0	0	17506	565	20	4	559	4	YY2	23	21875159	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2249007	21875159	133395401	828	12269											
FAM48B1	100130302	broad.mit.edu	37	chrX	24381937	24381937	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgggacaccaagccaagcAtcatgcagtcgtttaatgat	9	11	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:24381937A>G	uc011mjx.1	+	1	1060	c.1060A>G	c.(1060-1062)ATC>GTC	p.I354V		NM_001136234	NP_001129706			hypothetical protein LOC100130302											kidney(1)	1						CAAGCCAAGCATCATGCAGTC	0.552													G	24381937	A	G	24381937	3	3	15	1	0	0	0	0	1	0	0	0	5573	217	8	3	1062	3	FAM48B1	23	24381937	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	2506778	24381937	130888623	829	12270											
POLA1	5422	broad.mit.edu	37	chrX	24742543	24742543	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaaatagcaacaaaatAtaaaattatgaagttcaagt	6	3	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:24742543A>G	uc004dbl.2	+	12	1297	c.1274A>G	c.(1273-1275)TAT>TGT	p.Y425C	POLA1_uc004dbm.2_Missense_Mutation_p.Y431C|POLA1_uc004dbn.2_Missense_Mutation_p.Y289C	NM_016937	NP_058633	P09884	DPOLA_HUMAN	DNA-directed DNA polymerase alpha 1	425					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)	GCAACAAAATATAAAATTATG	0.299													G	24742543	A	G	24742543	3	3	15	1	0	0	0	0	1	0	0	0	12187	449	16	3	1320	3	POLA1	23	24742543	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	360606	24742543	130528017	830	12271											
POLA1	5422	broad.mit.edu	37	chrX	24830853	24830854	+	Frame_Shift_Ins	INS	-	-	A													caagtctctgctactgctgaINSaaaaaaagaagtacgctgct							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:24830852_24830853G>GA	uc004dbl.3	+	28	3165_3166	c.3150_3151G>GA	c.(3148-3153)ctgaaafs	p.L1050fs		NM_016937	NP_058633	P09884	DPOLA_HUMAN	Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	1050	Poly-Leu.				DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell proliferation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|regulation of transcription involved in G1/S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TGCTACTGCTGAAAAAAAAGAA	0.371													A	24830854	-	A	24830853	7	5	15	1	0	1	1	0	0	0	0	0	12187	247	9	0	3265	0	POLA1	23	24830853	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	88310	24830853	130439707	831	12272											
CXorf22	170063	broad.mit.edu	37	chrX	35938122	35938122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgtgcataatatttgccGctggaaccagaaaatccgat	8	9	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:35938122G>A	uc004ddj.2	+	1	265	c.206G>A	c.(205-207)CGC>CAC	p.R69H	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	69										large_intestine(1)|lung(1)|ovary(1)	3						AATATTTGCCGCTGGAACCAG	0.582													A	35938122	G	A	35938122	3	1	15	1	0	0	0	0	1	0	0	0	4102	1087	38	1	208	1	CXorf22	23	35938122	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	11107269	35938122	119332438	832	12273											
XK	7504	broad.mit.edu	37	chrX	37553709	37553709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatcagcgttcagccgggCgtcggtgatccaggctttct	13	13	3	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:37553709C>T	uc004ddq.2	+	2	498	c.416C>T	c.(415-417)GCG>GTG	p.A139V		NM_021083	NP_066569	P51811	XK_HUMAN	membrane transport protein XK	139	Extracellular (Potential).				amino acid transport	integral to membrane	protein binding|transporter activity				0		all_lung(315;0.175)				TTCAGCCGGGCGTCGGTGATC	0.547													T	37553709	C	T	37553709	3	4	15	1	0	0	0	0	1	0	0	0	17428	768	27	1	422	1	XK	23	37553709	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1615587	37553709	117716851	833	12274											
USP9X	8239	broad.mit.edu	37	chrX	41089035	41089036	+	Frame_Shift_Ins	INS	-	-	A													aactctgtccagaggaggtaINSaaaaaagccaccagtgtgca							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:41089034_41089035T>TA	uc004dfb.3	+	42	8066_8067	c.7433_7434T>TA	c.(7432-7434)gtafs	p.V2478fs	USP9X_uc004dfc.3_Splice_Site_p.E2477_splice	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	2478					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.?(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CCAGAGGAGGTAAAAAAAGCCA	0.371													A	41089036	-	A	41089035	7	5	15	1	0	1	1	0	0	0	0	0	17087	349	13	0	7600	0	USP9X	23	41089035	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	3535326	41089035	114181525	834	12275											
DUSP21	63904	broad.mit.edu	37	chrX	44703932	44703932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctatgagaaggacctacGtatgatgatatcaatgtaag	9	6	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:44703932G>A	uc004dgd.2	+	1	684	c.554G>A	c.(553-555)CGT>CAT	p.R185H		NM_022076	NP_071359	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	185						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)	2						AAGGACCTACGTATGATGATA	0.448													A	44703932	G	A	44703932	3	1	15	1	0	0	0	0	1	0	0	0	4820	1145	40	1	556	1	DUSP21	23	44703932	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	3614897	44703932	110566628	835	12276											
SLC9A7	84679	broad.mit.edu	37	chrX	46508175	46508175	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcttatgccttctgcccaAgttgaggaagaaggagagcg	12	8	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:46508175A>C	uc004dgu.1	-	11	1413	c.1405T>G	c.(1405-1407)TTG>GTG	p.L469V		NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	solute carrier family 9, member 7	469					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			ovary(2)	2						CTTCTGCCCAAGTTGAGGAAG	0.453													C	46508175	A	C	46508175	3	2	15	1	0	0	0	0	1	0	0	0	14719	69	3	5	800	5	SLC9A7	23	46508175	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1804243	46508175	108762385	836	12277											
ZNF41	7592	broad.mit.edu	37	chrX	47308161	47308161	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaggtttgatttgagggtAaagactttcccacattgagt	11	5	0	5			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:47308161A>G	uc004dhs.3	-	4	1201	c.1134T>C	c.(1132-1134)TTT>TTC	p.F378F	ZNF41_uc004dhu.3_Silent_p.F370F|ZNF41_uc004dht.3_Silent_p.F250F|ZNF41_uc004dhv.3_Silent_p.F346F|ZNF41_uc004dhw.3_Silent_p.F338F|ZNF41_uc004dhy.3_Silent_p.F336F|ZNF41_uc004dhx.3_Silent_p.F336F|ZNF41_uc011mlm.1_Silent_p.F250F	NM_153380	NP_700359	P51814	ZNF41_HUMAN	zinc finger protein 41	378	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3		all_lung(315;0.000129)				ATTTGAGGGTAAAGACTTTCC	0.413													G	47308161	A	G	47308161	2	3	15	1	0	0	0	0	0	0	0	1	17886	359	13	3		3	ZNF41	23	47308161	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	799986	47308161	107962399	837	12278											
CFP	5199	broad.mit.edu	37	chrX	47489004	47489004	+	Frame_Shift_Del	DEL	C	C	-													agtcttccacgctgacaccaCcccccaggaggcccttgcac							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:47489004delC	uc004dig.3	-	2	272	c.146delG	c.(145-147)GGTfs	p.G49fs	CFP_uc004dih.2_Frame_Shift_Del_p.G49fs|CFP_uc004dii.1_5'UTR|CFP_uc010nhu.2_Frame_Shift_Del_p.G49fs	NM_001145252	NP_001138724	P27918	PROP_HUMAN	complement factor properdin precursor	49					complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(2)|lung(1)	3						GCTGACACCACCCCCCAGGAG	0.612													-	47489004	C	-	47489004	7	5	15	1	0	1	0	1	0	0	0	0	3293	507	18	0	1295	0	CFP	23	47489004	Frame_Shift_Del	DEL	C	TCGA-BR-4280-01A-01D-1126-08	180843	47489004	107781556	838	12279											
WDR13	64743	broad.mit.edu	37	chrX	48458724	48458724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcccaagggtgcgcttcGccaatgatgaccgacaccgc	11	15	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:48458724G>A	uc004dkh.1	+	6	688	c.541G>A	c.(541-543)GCC>ACC	p.A181T	WDR13_uc010nif.1_Missense_Mutation_p.A59T|WDR13_uc004dki.1_Missense_Mutation_p.A89T|WDR13_uc004dkj.1_Missense_Mutation_p.A181T|WDR13_uc004dkk.1_Missense_Mutation_p.A89T|WDR13_uc004dkl.3_Missense_Mutation_p.A89T|WDR13_uc011mme.1_Missense_Mutation_p.A59T	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	181	WD 1.					cytoplasm|nucleus				ovary(2)	2						GGTGCGCTTCGCCAATGATGA	0.597													A	48458724	G	A	48458724	3	1	15	1	0	0	0	0	1	0	0	0	17272	1087	38	1	559	1	WDR13	23	48458724	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	969720	48458724	106811836	839	12280											
AKAP4	8852	broad.mit.edu	37	chrX	49957256	49957256	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taaggcagagcttcatcacaGattctactagtttatctata	6	8	4	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:49957256G>A	uc004dow.1	-	5	2232	c.2108C>T	c.(2107-2109)TCT>TTT	p.S703F	AKAP4_uc004dov.1_Missense_Mutation_p.S320F|AKAP4_uc010njp.1_Missense_Mutation_p.S525F|AKAP4_uc004dou.1_Missense_Mutation_p.S694F	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	703					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					CTTCATCACAGATTCTACTAG	0.463													A	49957256	G	A	49957256	3	1	15	1	0	0	0	0	1	0	0	0	453	942	33	4	464	4	AKAP4	23	49957256	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	1498532	49957256	105313304	840	12281											
AKAP4	8852	broad.mit.edu	37	chrX	49958092	49958092	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaagcgcttcagcatggcCtccatgatgtctgtagcatt	9	12	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:49958092C>A	uc004dow.1	-	5	1396	c.1272G>T	c.(1270-1272)GAG>GAT	p.E424D	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.E246D|AKAP4_uc004dou.1_Missense_Mutation_p.E415D	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	424					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					TCAGCATGGCCTCCATGATGT	0.453													A	49958092	C	A	49958092	3	1	15	1	0	0	0	0	1	0	0	0	453	680	24	5	1300	5	AKAP4	23	49958092	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	836	49958092	105312468	841	12282											
XAGE3	170626	broad.mit.edu	37	chrX	52893814	52893814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatagcatacctccttctggCattttaaattgttctgattt	6	8	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:52893814C>T	uc004dre.2	-	4	363	c.303G>A	c.(301-303)ATG>ATA	p.M101I	XAGE3_uc004drf.2_Missense_Mutation_p.M101I	NM_130776	NP_570132	Q8WTP9	GAGD4_HUMAN	XAGE-3 protein	101											0						CTCCTTCTGGCATTTTAAATT	0.378													T	52893814	C	T	52893814	3	4	15	1	0	0	0	0	1	0	0	0	17417	710	25	2	40	2	XAGE3	23	52893814	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2935722	52893814	102376746	842	12283											
GNL3L	54552	broad.mit.edu	37	chrX	54559016	54559016	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcatgatgaaacttagacAcagtgagtttcctttaccac	6	10	1	4			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:54559016A>G	uc004dth.1	+	2	156	c.17A>G	c.(16-18)CAC>CGC	p.H6R	GNL3L_uc004dti.2_RNA	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3	6					ribosome biogenesis	nucleolus	GTP binding			ovary(1)	1						AAACTTAGACACAGTGAGTTT	0.348													G	54559016	A	G	54559016	3	3	15	1	0	0	0	0	1	0	0	0	6538	159	6	3	19	3	GNL3L	23	54559016	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1665202	54559016	100711544	843	12284											
FAM123B	139285	broad.mit.edu	37	chrX	63411827	63411827	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagttccccaggggctaggCcaggataagacctaactggg	13	10	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:63411827C>A	uc004dvo.2	-	2	1613	c.1340G>T	c.(1339-1341)GGC>GTC	p.G447V		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	447					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						AGGGGCTAGGCCAGGATAAGA	0.532													A	63411827	C	A	63411827	3	1	15	1	0	0	0	0	1	0	0	0	5423	739	26	5	2071	5	FAM123B	23	63411827	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	8852811	63411827	91858733	844	12285											
FOXO4	4303	broad.mit.edu	37	chrX	70320655	70320655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagagcggcaaagccccccGccgccgggccgcctccatgg	13	19	0	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:70320655G>A	uc004dys.1	+	2	928	c.575G>A	c.(574-576)CGC>CAC	p.R192H	FOXO4_uc010nkz.2_Missense_Mutation_p.R192H|FOXO4_uc004dyt.1_Missense_Mutation_p.R137H	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	192					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(2)|prostate(1)	3	Renal(35;0.156)					AAAgccccccgccgccgggcc	0.517											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	70320655	G	A	70320655	3	1	15	1	0	0	0	0	1	0	0	0	6025	1087	38	1	581	1	FOXO4	23	70320655	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	6908828	70320655	84949905	845	12286											
ACRC	93953	broad.mit.edu	37	chrX	70824105	70824105	+	Missense_Mutation	SNP	T	T	A													gatgattcggatgttcccgaTgacaatagtgatgatttgga					rs151063209		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:70824105T>A	uc004eae.2	+	8	1479	c.978T>A	c.(976-978)GAT>GAA	p.D326E	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	326	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					ATGTTCCCGATGACAATAGTG	0.478													A	70824105	T	A	70824105	3	1	15	1	0	0	0	0	1	0	0	0	171	1461	51	5	1004	5	ACRC	23	70824105	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	503450	70824105	84446455	846	12287	28	2									
ACRC	93953	broad.mit.edu	37	chrX	70824111	70824111	+	Missense_Mutation	SNP	T	T	G													tcggatgttcccgatgacaaTagtgatgatttggaagttcc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:70824111T>G	uc004eae.2	+	8	1485	c.984T>G	c.(982-984)AAT>AAG	p.N328K	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	328	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					CCGATGACAATAGTGATGATT	0.483													G	70824111	T	G	70824111	3	3	15	1	0	0	0	0	1	0	0	0	171	1403	49	5	1010	5	ACRC	23	70824111	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	6	70824111	84446449	847	12288	28	2									
KIAA2022	340533	broad.mit.edu	37	chrX	73959959	73959959	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttttcaaaagaagctgtcCcagactcatccttgtggacc	8	11	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:73959959C>A	uc004eby.2	-	3	5050	c.4433G>T	c.(4432-4434)GGG>GTG	p.G1478V		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1478					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						AGAAGCTGTCCCAGACTCATC	0.473													A	73959959	C	A	73959959	3	1	15	1	0	0	0	0	1	0	0	0	8269	623	22	5	125	5	KIAA2022	23	73959959	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	3135848	73959959	81310601	848	12289											
P2RY10	27334	broad.mit.edu	37	chrX	78216820	78216820	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taactttattttttacaccaTggtaaaggaaaccatcatta	4	7	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:78216820T>C	uc004ede.2	+	4	1172	c.803T>C	c.(802-804)ATG>ACG	p.M268T	P2RY10_uc004edf.2_Missense_Mutation_p.M268T	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	268	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5						TTTTACACCATGGTAAAGGAA	0.448													C	78216820	T	C	78216820	3	2	15	1	0	0	0	0	1	0	0	0	11347	1464	51	3	805	3	P2RY10	23	78216820	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	4256861	78216820	77053740	849	12290											
POU3F4	5456	broad.mit.edu	37	chrX	82764202	82764202	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccatcgaggtgagtgtcaaGggcgtactggagacgcattt	14	8	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:82764202G>T	uc004eeg.2	+	1	934	c.870G>T	c.(868-870)AAG>AAT	p.K290N		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	290	Homeobox.				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						TGAGTGTCAAGGGCGTACTGG	0.612													T	82764202	G	T	82764202	3	4	15	1	0	0	0	0	1	0	0	0	12277	991	35	5	872	5	POU3F4	23	82764202	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	4547382	82764202	72506358	850	12291											
ZNF711	7552	broad.mit.edu	37	chrX	84526621	84526621	+	Frame_Shift_Del	DEL	A	A	-													ttcagacaacaaaatgagctAaaaaaacatatgaagaccca							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:84526620_84526620TA>T	uc004eeq.3	+	9	3096	c.2210_2210TA>T	c.(2209-2211)ctafs	p.L737fs	ZNF711_uc004eep.3_Frame_Shift_Del_p.L691fs|ZNF711_uc004eeo.3_Frame_Shift_Del_p.L691fs|ZNF711_uc011mqy.1_Frame_Shift_Del_p.L290fs	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	691					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CAAAATGAGCTAAAAAAACAT	0.363													-	84526621	A	-	84526621	7	5	15	1	0	1	0	1	0	0	0	0	18113	349	13	0	2099	0	ZNF711	23	84526621	Frame_Shift_Del	DEL	A	TCGA-BR-4280-01A-01D-1126-08	1762419	84526621	70743939	851	12292											
DACH2	117154	broad.mit.edu	37	chrX	85950100	85950100	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaccccaacatggaattgcTcatgcagccctagctggcca	10	14	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:85950100T>G	uc004eew.2	+	5	1019	c.849T>G	c.(847-849)GCT>GCG	p.A283A	DACH2_uc004eex.2_Silent_p.A270A|DACH2_uc010nmq.2_Silent_p.A149A|DACH2_uc011mra.1_Silent_p.A116A|DACH2_uc010nmr.2_Silent_p.A64A	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						ATGGAATTGCTCATGCAGCCC	0.478													G	85950100	T	G	85950100	2	3	15	1	0	0	0	0	0	0	0	1	4221	1538	54	5		5	DACH2	23	85950100	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	1423479	85950100	69320460	852	12293											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177518	89177518	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaggcgtctgtgccggccaAgtcagggcccagtggtccag	16	13	2	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:89177518A>C	uc004efe.2	+	2	483	c.434A>C	c.(433-435)AAG>ACG	p.K145T		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	145						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						GTGCCGGCCAAGTCAGGGCCC	0.592													C	89177518	A	C	89177518	3	2	15	1	0	0	0	0	1	0	0	0	15824	72	3	5	436	5	TGIF2LX	23	89177518	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	3227418	89177518	66093042	853	12294											
DIAPH2	1730	broad.mit.edu	37	chrX	96502819	96502819	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagaaaatcaacacgataAgtttgtggaaaagatgacca	9	6	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:96502819A>C	uc004efu.3	+	23	3221	c.2825A>C	c.(2824-2826)AAG>ACG	p.K942T	DIAPH2_uc004eft.3_Missense_Mutation_p.K942T	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	942	Potential.|FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						CAACACGATAAGTTTGTGGAA	0.358													C	96502819	A	C	96502819	3	2	15	1	0	0	0	0	1	0	0	0	4519	72	3	5	2915	5	DIAPH2	23	96502819	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	7325301	96502819	58767741	854	12295											
PCDH19	57526	broad.mit.edu	37	chrX	99662916	99662916	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcattggagtcggtcaccTtgatactaaggccaacggtg	12	9	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:99662916T>G	uc010nmz.2	-	1	2356	c.680A>C	c.(679-681)AAG>ACG	p.K227T	PCDH19_uc004efw.3_Missense_Mutation_p.K227T|PCDH19_uc004efx.3_Missense_Mutation_p.K227T	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	227	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						GTCGGTCACCTTGATACTAAG	0.617													G	99662916	T	G	99662916	3	3	15	1	0	0	0	0	1	0	0	0	11514	1609	56	5	2790	5	PCDH19	23	99662916	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	3160097	99662916	55607644	855	12296											
DRP2	1821	broad.mit.edu	37	chrX	100511132	100511132	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggaccagtacctgctgcggCactccagccccatcacagac	9	17	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:100511132C>G	uc004egz.2	+	21	2641	c.2272C>G	c.(2272-2274)CAC>GAC	p.H758D	DRP2_uc011mrh.1_Missense_Mutation_p.H680D	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	758					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						CCTGCTGCGGCACTCCAGCCC	0.582													G	100511132	C	G	100511132	3	3	15	1	0	0	0	0	1	0	0	0	4764	710	25	5	2346	5	DRP2	23	100511132	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	848216	100511132	54759428	856	12297											
BHLHB9	80823	broad.mit.edu	37	chrX	102004719	102004719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgtggcaacagcttgcCgcccttctaggaacactcgc	10	15	1	0	rs149330911		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:102004719C>T	uc010nog.2	+	4	1367	c.796C>T	c.(796-798)CGC>TGC	p.R266C	BHLHB9_uc011mrq.1_Missense_Mutation_p.R266C|BHLHB9_uc011mrr.1_Missense_Mutation_p.R266C|BHLHB9_uc011mrs.1_Missense_Mutation_p.R266C|BHLHB9_uc011mrt.1_Missense_Mutation_p.R266C|BHLHB9_uc004ejo.2_Missense_Mutation_p.R266C|BHLHB9_uc011mru.1_Missense_Mutation_p.R266C|BHLHB9_uc011mrv.1_Missense_Mutation_p.R266C	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	266						cytoplasm|nucleus	binding			ovary(2)	2						AACAGCTTGCCGCCCTTCTAG	0.498													T	102004719	C	T	102004719	3	4	15	1	0	0	0	0	1	0	0	0	1420	652	23	1	798	1	BHLHB9	23	102004719	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1493587	102004719	53265841	857	12298											
TMSB15B	286527	broad.mit.edu	37	chrX	103219168	103219169	+	Frame_Shift_Ins	INS	-	-	A													gaagaaaactaatactgaagINSaaaaaaatactcttccctca							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:103219168_103219169insA	uc010noz.2	+	2	187_188	c.73_74insA	c.(73-75)GAAfs	p.E25fs	TMSB15B_uc004elo.3_RNA|TMSB15B_uc004elq.3_RNA	NM_194324	NP_919305	P0CG34	TB15A_HUMAN	thymosin beta15b	25					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			skin(1)	1						TAATACTGAAGAAAAAAATACT	0.356													A	103219169	-	A	103219168	7	5	15	1	0	1	1	0	0	0	0	0	16253	943	33	0	75	0	TMSB15B	23	103219168	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	1214449	103219168	52051392	858	12299	29	2									
TMSB15B	286527	broad.mit.edu	37	chrX	103219169	103219170	+	Frame_Shift_Ins	INS	-	-	A													aagaaaactaatactgaagaINSaaaaaatactcttccctcaa							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:103219168_103219169G>GA	uc010noz.3	+	1	793_794	c.73_74G>GA	c.(73-75)gaafs	p.E25fs	TMSB15B_uc004elo.4_Non-coding_Transcript|TMSB15B_uc004elq.4_Non-coding_Transcript	NM_194324	NP_919305	P0CG34	TB15A_HUMAN	Homo sapiens thymosin beta 15B (TMSB15B), mRNA.	25					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			skin(1)	1						TAATACTGAAGAAAAAAATACT	0.356													A	103219170	-	A	103219169	7	5	15	1	0	1	1	0	0	0	0	0	16253	246	9	0	76	0	TMSB15B	23	103219169	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	1	103219169	52051391	859	12300	29	2									
GUCY2F	2986	broad.mit.edu	37	chrX	108718959	108718959	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaacctcaggcagggcCtttgaaaacagcgaatcaca	10	12	2	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:108718959C>A	uc004eod.3	-	2	483	c.207G>T	c.(205-207)AAG>AAT	p.K69N	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	69	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						CAGGCAGGGCCTTTGAAAACA	0.517											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	108718959	C	A	108718959	3	1	15	1	0	0	0	0	1	0	0	0	6898	680	24	5	3191	5	GUCY2F	23	108718959	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	5499790	108718959	46551601	860	12301											
PAK3	5063	broad.mit.edu	37	chrX	110248880	110248880	+	Translation_Start_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcaagcccgaagagaaatTtggcccttatggtaagtgat	12	7	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:110248880T>G	uc004eoy.1	+	1	455	c.-1013T>G	c.(-1015--1011)ATTTG>ATGTG		PAK3_uc010npt.1_Intron|PAK3_uc010npu.1_Intron			O75914	PAK3_HUMAN	SubName: Full=cDNA FLJ75088, highly similar to Homo sapiens p21 (CDKN1A)-activated kinase 2 (PAK2), mRNA;						multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			lung(6)|ovary(3)|large_intestine(1)	10						GAAGAGAAATTTGGCCCTTAT	0.443										TSP Lung(19;0.15)			G	110248880	T	G	110248880	1	3	15	1	0	0	0	0	0	0	0	0	11402	1856	64	5		5	PAK3	23	110248880	Translation_Start_Site	SNP	T	TCGA-BR-4280-01A-01D-1126-08	1529921	110248880	45021680	861	12302											
TRPC5	7224	broad.mit.edu	37	chrX	111155719	111155719	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctcggccttgaactcattctCcaccttgctgagctccttga	7	15	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:111155719C>G	uc004epl.1	-	3	1619	c.700G>C	c.(700-702)GAG>CAG	p.E234Q	TRPC5_uc004epm.1_Missense_Mutation_p.E234Q	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	234	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						AACTCATTCTCCACCTTGCTG	0.557													G	111155719	C	G	111155719	3	3	15	1	0	0	0	0	1	0	0	0	16579	864	30	5	2257	5	TRPC5	23	111155719	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	906839	111155719	44114841	862	12303											
KLHL13	90293	broad.mit.edu	37	chrX	117054219	117054219	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgaacatagccttgaAgtaatcactagcagatgcca	8	10	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:117054219A>G	uc004eql.2	-	3	417	c.355T>C	c.(355-357)TTC>CTC	p.F119L	KLHL13_uc004eqk.2_Missense_Mutation_p.F68L|KLHL13_uc011mtn.1_5'UTR|KLHL13_uc011mto.1_Missense_Mutation_p.F113L|KLHL13_uc011mtp.1_Missense_Mutation_p.F121L|KLHL13_uc004eqm.2_Missense_Mutation_p.F68L|KLHL13_uc011mtq.1_Missense_Mutation_p.F103L	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	119	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)|skin(1)	2						ATAGCCTTGAAGTAATCACTA	0.378													G	117054219	A	G	117054219	3	3	15	1	0	0	0	0	1	0	0	0	8369	72	3	3	1632	3	KLHL13	23	117054219	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	5898500	117054219	38216341	863	12304											
SLC25A5	292	broad.mit.edu	37	chrX	118604463	118604463	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccgcatgatgatgcagtcAgggcgcaaaggaagtaagtt	14	8	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:118604463A>G	uc004erh.3	+	3	842	c.726A>G	c.(724-726)TCA>TCG	p.S242S	LOC100303728_uc004ere.1_5'Flank|LOC100303728_uc004erg.1_5'Flank	NM_001152	NP_001143	P05141	ADT2_HUMAN	adenine nucleotide translocator 2	242	Solcar 3.				chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			ovary(1)	1					Clodronate(DB00720)	TGATGCAGTCAGGGCGCAAAG	0.493													G	118604463	A	G	118604463	2	3	15	1	0	0	0	0	0	0	0	1	14512	175	7	3		3	SLC25A5	23	118604463	Silent	SNP	A	TCGA-BR-4280-01A-01D-1126-08	1550244	118604463	36666097	864	12305											
CUL4B	8450	broad.mit.edu	37	chrX	119669715	119669715	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttttaacacacagtgTcctagggttgactgccactg	9	11	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:119669715T>C	uc004esw.2	-	18	2621	c.2184A>G	c.(2182-2184)GGA>GGG	p.G728G	CUL4B_uc010nqq.2_Silent_p.G429G|CUL4B_uc004esv.2_Silent_p.G710G	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	cullin 4B isoform 1	728					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3						ACACACAGTGTCCTAGGGTTG	0.343													C	119669715	T	C	119669715	2	2	15	1	0	0	0	0	0	0	0	1	4058	1654	58	3		3	CUL4B	23	119669715	Silent	SNP	T	TCGA-BR-4280-01A-01D-1126-08	1065252	119669715	35600845	865	12306											
ODZ1	10178	broad.mit.edu	37	chrX	123517645	123517645	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataatccctttgccccaggTgcactaatttagtaaggaaa	7	10	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:123517645T>C	uc004euj.2	-	29	7179	c.7115A>G	c.(7114-7116)CAC>CGC	p.H2372R	ODZ1_uc011muj.1_Missense_Mutation_p.H2378R|ODZ1_uc010nqy.2_Missense_Mutation_p.H2379R	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	2372	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TTGCCCCAGGTGCACTAATTT	0.418													C	123517645	T	C	123517645	3	2	15	1	0	0	0	0	1	0	0	0	10834	1696	59	3	1074	3	ODZ1	23	123517645	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	3847930	123517645	31752915	866	12307											
ODZ1	10178	broad.mit.edu	37	chrX	123526074	123526074	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatatctgcttacaggagacCacagaatgggtcgcccagtc	10	11	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:123526074C>A	uc004euj.2	-	27	5559	c.5495G>T	c.(5494-5496)TGG>TTG	p.W1832L	ODZ1_uc011muj.1_Missense_Mutation_p.W1838L|ODZ1_uc010nqy.2_Missense_Mutation_p.W1839L	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1832	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TACAGGAGACCACAGAATGGG	0.393													A	123526074	C	A	123526074	3	1	15	1	0	0	0	0	1	0	0	0	10834	595	21	5	2702	5	ODZ1	23	123526074	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	8429	123526074	31744486	867	12308											
UTP14A	10813	broad.mit.edu	37	chrX	129055391	129055391	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaggctgcaacccaggaggaCcctgagcaactgccagagct	13	13	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:129055391C>G	uc004euz.2	+	11	1204	c.1176C>G	c.(1174-1176)GAC>GAG	p.D392E	UTP14A_uc011mup.1_Missense_Mutation_p.D340E|UTP14A_uc011muq.1_Missense_Mutation_p.D338E|UTP14A_uc004eva.1_Missense_Mutation_p.D98E	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	392					rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2						CCCAGGAGGACCCTGAGCAAC	0.507													G	129055391	C	G	129055391	3	3	15	1	0	0	0	0	1	0	0	0	17092	506	18	5	1218	5	UTP14A	23	129055391	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	5529317	129055391	26215169	868	12309											
BCORL1	63035	broad.mit.edu	37	chrX	129147663	129147664	+	Frame_Shift_Ins	INS	-	-	TCAG													ctccagctcctgccccgcttINStcagtcccagtttcagctcc							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:129147663_129147664insTCAG	uc004evb.1	+	4	1029_1030	c.915_916insTCAG	c.(913-918)CTTTCAfs	p.L305fs	BCORL1_uc010nrd.1_Frame_Shift_Ins_p.L207fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	305_306	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						ctgccccgctttcagtcccagt	0.248													TCAG	129147664	-	TCAG	129147663	7	5	15	1	0	1	1	0	0	0	0	0	1387	1828	64	0	925	0	BCORL1	23	129147663	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	92272	129147663	26122897	869	12310	30	2									
BCORL1	63035	broad.mit.edu	37	chrX	129147664	129147665	+	Frame_Shift_Ins	INS	-	-	TCAG													tccagctcctgccccgctttINScagtcccagtttcagctcct							TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:129147663_129147664T>TTCAG	uc022cdu.1	+	2	959_960	c.915_916T>TTCAG	c.(913-918)ctttcafs	p.L305fs	BCORL1_uc010nrd.1_Frame_Shift_Ins_p.L207fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	305	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.P304Q(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ctgccccgctttcagtcccagt	0.639													TCAG	129147665	-	TCAG	129147664	7	5	15	1	0	1	1	0	0	0	0	0	1387	1783	62	0	926	0	BCORL1	23	129147664	Frame_Shift_Ins	INS	-	TCGA-BR-4280-01A-01D-1126-08	1	129147664	26122896	870	12311	30	2									
IGSF1	3547	broad.mit.edu	37	chrX	130410940	130410940	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgagctccacagggtcgcTgggctcagaccagatagaaa	12	12	1	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:130410940T>C	uc004ewd.2	-	14	2819	c.2581A>G	c.(2581-2583)AGC>GGC	p.S861G	IGSF1_uc004ewe.3_Missense_Mutation_p.S855G|IGSF1_uc004ewf.2_Missense_Mutation_p.S841G	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	861	Extracellular (Potential).|Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						ACAGGGTCGCTGGGCTCAGAC	0.567													C	130410940	T	C	130410940	3	2	15	1	0	0	0	0	1	0	0	0	7596	1580	55	3	1457	3	IGSF1	23	130410940	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	1263276	130410940	24859620	871	12312											
FRMD7	90167	broad.mit.edu	37	chrX	131216453	131216453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctttgatttgggctcttcCgaaagcctgaagaaagcatg	12	8	1	3	rs145014972		TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:131216453C>T	uc004ewn.2	-	9	1021	c.843G>A	c.(841-843)TCG>TCA	p.S281S	FRMD7_uc011muy.1_Silent_p.S266S	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	281	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)					TGGGCTCTTCCGAAAGCCTGA	0.483													T	131216453	C	T	131216453	2	4	15	1	0	0	0	0	0	0	0	1	6055	639	23	1		1	FRMD7	23	131216453	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	805513	131216453	24054107	872	12313											
GPR112	139378	broad.mit.edu	37	chrX	135405357	135405357	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgttcctagggcactttcTcaagaatgagagcagcgagg	12	9	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:135405357T>C	uc004ezu.1	+	5	782	c.491T>C	c.(490-492)CTC>CCC	p.L164P	GPR112_uc010nsb.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	164	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					GGGCACTTTCTCAAGAATGAG	0.453													C	135405357	T	C	135405357	3	2	15	1	0	0	0	0	1	0	0	0	6629	1551	54	3	497	3	GPR112	23	135405357	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	4188904	135405357	19865203	873	12314											
MAGEC1	9947	broad.mit.edu	37	chrX	140995628	140995628	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagtctcctctccagagtcCtgtgagctccttcccctcct	6	19	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:140995628C>A	uc004fbt.2	+	4	2724	c.2438C>A	c.(2437-2439)CCT>CAT	p.P813H	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	813							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCAGAGTCCTGTGAGCTCC	0.547										HNSCC(15;0.026)			A	140995628	C	A	140995628	3	1	15	1	0	0	0	0	1	0	0	0	9180	681	24	5	2444	5	MAGEC1	23	140995628	Missense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	5590271	140995628	14274932	874	12315											
AFF2	2334	broad.mit.edu	37	chrX	148037692	148037692	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcaagattgtgccaaAgtctcgggaattcattgaaa	11	8	2	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:148037692A>G	uc004fcp.2	+	11	2596	c.2117A>G	c.(2116-2118)AAG>AGG	p.K706R	AFF2_uc004fcq.2_Missense_Mutation_p.K696R|AFF2_uc004fcr.2_Missense_Mutation_p.K667R|AFF2_uc011mxb.1_Missense_Mutation_p.K671R|AFF2_uc004fcs.2_Missense_Mutation_p.K673R|AFF2_uc011mxc.1_Missense_Mutation_p.K347R	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	706					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGTGCCAAAGTCTCGGGAA	0.488													G	148037692	A	G	148037692	3	3	15	1	0	0	0	0	1	0	0	0	357	72	3	3	2214	3	AFF2	23	148037692	Missense_Mutation	SNP	A	TCGA-BR-4280-01A-01D-1126-08	7042064	148037692	7232868	875	12316											
PRRG3	79057	broad.mit.edu	37	chrX	150869254	150869254	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggggagccttctgggcacCgagaggcagcgaacagcccc	15	13	1	1			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:150869254C>T	uc004few.1	+	4	835	c.445C>T	c.(445-447)CGA>TGA	p.R149*		NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3	149	Cytoplasmic (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGGGCACCGAGAGGCAGC	0.672													T	150869254	C	T	150869254	4	4	15	1	0	0	0	0	0	1	0	0	12607	644	23	1	455	1	PRRG3	23	150869254	Nonsense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	2831562	150869254	4401306	876	12317											
CNGA2	1260	broad.mit.edu	37	chrX	150912578	150912578	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggcagtaaaatgggcaatCgacgcacagctaatatccgc	11	10	0	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:150912578C>T	uc004fey.1	+	7	1827	c.1603C>T	c.(1603-1605)CGA>TGA	p.R535*		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	535	cAMP (By similarity).|Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					AATGGGCAATCGACGCACAGC	0.498													T	150912578	C	T	150912578	4	4	15	1	0	0	0	0	0	1	0	0	3597	876	31	1	1625	1	CNGA2	23	150912578	Nonsense_Mutation	SNP	C	TCGA-BR-4280-01A-01D-1126-08	43324	150912578	4357982	877	12318											
ATP2B3	492	broad.mit.edu	37	chrX	152814984	152814984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagacaacaacctggtgcgCcacctggatgcctgcgagac	11	13	0	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:152814984C>T	uc004fht.1	+	9	1494	c.1368C>T	c.(1366-1368)CGC>CGT	p.R456R	ATP2B3_uc004fhs.1_Silent_p.R456R	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	456	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCTGGTGCGCCACCTGGATG	0.587													T	152814984	C	T	152814984	2	4	15	1	0	0	0	0	0	0	0	1	1141	726	26	2		2	ATP2B3	23	152814984	Silent	SNP	C	TCGA-BR-4280-01A-01D-1126-08	1902406	152814984	2455576	878	12319											
DUSP9	1852	broad.mit.edu	37	chrX	152915040	152915040	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacccccaacctcccaaacTtcttcgagaagaatggtgac	6	15	2	3			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:152915040T>G	uc004fhx.3	+	3	931	c.727T>G	c.(727-729)TTC>GTC	p.F243V	DUSP9_uc004fhy.3_Missense_Mutation_p.F243V	NM_001395	NP_001386	Q99956	DUS9_HUMAN	dual specificity phosphatase 9	243	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCCAAACTTCTTCGAGAA	0.547													G	152915040	T	G	152915040	3	3	15	1	0	0	0	0	1	0	0	0	4832	1609	56	5	733	5	DUSP9	23	152915040	Missense_Mutation	SNP	T	TCGA-BR-4280-01A-01D-1126-08	100056	152915040	2355520	879	12320											
HCFC1	3054	broad.mit.edu	37	chrX	153219666	153219666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggggtgacgctgggtgccGccgccacctctaggccagac	17	14	1	2			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:153219666G>A	uc004fjp.2	-	17	4712	c.4184C>T	c.(4183-4185)GCG>GTG	p.A1395V		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1395					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGGGTGCCGCCGCCACCTC	0.677													A	153219666	G	A	153219666	3	1	15	1	0	0	0	0	1	0	0	0	6991	1087	38	1	1963	1	HCFC1	23	153219666	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	304626	153219666	2050894	880	12321											
EMD	2010	broad.mit.edu	37	chrX	153609454	153609454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgggctgggccaggatcGccaggtcccgctctggggcc	18	14	1	0			TCGA-BR-4280-01A-01D-1126-08	TCGA-BR-4280-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41b158f4-026e-4f40-9175-f3e5c0b1f8ce	3fea064a-3d4a-4a19-a445-de5e616a5edd	g.chrX:153609454G>A	uc004fkl.2	+	6	910	c.662G>A	c.(661-663)CGC>CAC	p.R221H		NM_000117	NP_000108	P50402	EMD_HUMAN	emerin	221	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCAGGATCGCCAGGTCCCG	0.577													A	153609454	G	A	153609454	3	1	15	1	0	0	0	0	1	0	0	0	5087	1087	38	1	684	1	EMD	23	153609454	Missense_Mutation	SNP	G	TCGA-BR-4280-01A-01D-1126-08	389788	153609454	1661106	881	12322											
MORN1	79906	broad.mit.edu	37	chr1	2303936	2303936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactcttggcaatttccccGtggtcctgcagcagctgaac	9	13	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:2303936G>A	uc001ajb.1	-	8	750	c.729C>T	c.(727-729)CAC>CAT	p.H243H	MORN1_uc009vld.2_Silent_p.H219H|MORN1_uc001ajd.1_Silent_p.H243H	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	MORN repeat containing 1	243										ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		CAATTTCCCCGTGGTCCTGCA	0.542													A	2303936	G	A	2303936	2	1	16	1	0	0	0	0	0	0	0	1	9708	1136	40	1		1	MORN1	1	2303936	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08		2303936	246946685	1	12323											
RER1	11079	broad.mit.edu	37	chr1	2334500	2334500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attaagtaccggtacatcccGttcacacatgggaagagaag	10	9	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:2334500G>A	uc001aje.1	+	7	719	c.528G>A	c.(526-528)CCG>CCA	p.P176P	RER1_uc001ajf.1_3'UTR	NM_007033	NP_008964	O15258	RER1_HUMAN	RER1 retention in endoplasmic reticulum 1	176				HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940).	retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane					0	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		GGTACATCCCGTTCACACATG	0.547													A	2334500	G	A	2334500	2	1	16	1	0	0	0	0	0	0	0	1	13230	1132	40	1		1	RER1	1	2334500	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	30564	2334500	246916121	2	12324											
ARHGEF16	27237	broad.mit.edu	37	chr1	3395142	3395142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcgcaacagcgagggcCgccaggagcagctcctgctc	13	15	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:3395142C>T	uc001akg.3	+	12	2028	c.1780C>T	c.(1780-1782)CGC>TGC	p.R594C	ARHGEF16_uc001aki.2_Missense_Mutation_p.R306C|ARHGEF16_uc001akj.2_Missense_Mutation_p.R306C|ARHGEF16_uc010nzh.1_Missense_Mutation_p.R298C	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	594	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CAGCGAGGGCCGCCAGGAGCA	0.677													T	3395142	C	T	3395142	3	4	16	1	0	0	0	0	1	0	0	0	899	652	23	1	1822	1	ARHGEF16	1	3395142	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1060642	3395142	245855479	3	12325											
MEGF6	1953	broad.mit.edu	37	chr1	3431982	3431982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacggacacaatgcctgccGtcctcctggagctggaaccc	10	16	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:3431982G>A	uc001akl.2	-	6	941	c.714C>T	c.(712-714)GAC>GAT	p.D238D	MEGF6_uc001akk.2_Silent_p.D133D	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	238	EGF-like 4.|EGF-like 3.					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		AATGCCTGCCGTCCTCCTGGA	0.677													A	3431982	G	A	3431982	2	1	16	1	0	0	0	0	0	0	0	1	9462	1136	40	1		1	MEGF6	1	3431982	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	36840	3431982	245818639	4	12326											
KIAA0562	9731	broad.mit.edu	37	chr1	3765295	3765295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaactgcagtttccttattCgacatctctccaccatttga	5	12	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:3765295C>T	uc001aky.2	-	3	523	c.164G>A	c.(163-165)CGA>CAA	p.R55Q	KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Missense_Mutation_p.R55Q	NM_014704	NP_055519	O60308	CE104_HUMAN	glycine-, glutamate-,	55						centriole	binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)		TTTCCTTATTCGACATCTCTC	0.358													T	3765295	C	T	3765295	3	4	16	1	0	0	0	0	1	0	0	0	8184	884	31	1	2693	1	KIAA0562	1	3765295	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	333313	3765295	245485326	5	12327											
DFFB	1677	broad.mit.edu	37	chr1	3789133	3789133	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcacctggaacctggatcAcatgtaagctcacagagcga	10	12	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:3789133A>G	uc001alc.2	+	6	1102	c.779A>G	c.(778-780)CAC>CGC	p.H260R	DFFB_uc001ale.2_RNA|DFFB_uc009vlp.2_RNA|DFFB_uc001alb.2_RNA|DFFB_uc010nzn.1_Missense_Mutation_p.H284R|DFFB_uc009vlq.2_RNA|DFFB_uc009vlr.2_Missense_Mutation_p.H211R|DFFB_uc001ald.2_Missense_Mutation_p.H196R	NM_004402	NP_004393	O76075	DFFB_HUMAN	DNA fragmentation factor, 40 kD, beta	260					apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		AACCTGGATCACATGTAAGCT	0.398													G	3789133	A	G	3789133	3	3	16	1	0	0	0	0	1	0	0	0	4453	159	6	3	801	3	DFFB	1	3789133	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	23838	3789133	245461488	6	12328											
CHD5	26038	broad.mit.edu	37	chr1	6169955	6169955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacttcagccaggcgggcGttgagggccatggcggggtg	18	11	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:6169955G>A	uc001amb.1	-	38	5578	c.5478C>T	c.(5476-5478)AAC>AAT	p.N1826N	CHD5_uc001alz.1_Silent_p.N683N|CHD5_uc001ama.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1826					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCAGGCGGGCGTTGAGGGCCA	0.657													A	6169955	G	A	6169955	2	1	16	1	0	0	0	0	0	0	0	1	3328	1136	40	1		1	CHD5	1	6169955	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2380822	6169955	243080666	7	12329											
SLC45A1	50651	broad.mit.edu	37	chr1	8384692	8384692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggcatcgagttcagctaCgccatggagacggcgtacgt	13	10	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:8384692C>T	uc001apb.2	+	1	303	c.303C>T	c.(301-303)TAC>TAT	p.Y101Y		NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	101	Helical; (Potential).				carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		AGTTCAGCTACGCCATGGAGA	0.632													T	8384692	C	T	8384692	2	4	16	1	0	0	0	0	0	0	0	1	14640	547	19	1		1	SLC45A1	1	8384692	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2214737	8384692	240865929	8	12330											
RERE	473	broad.mit.edu	37	chr1	8420774	8420774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggatgggagtggtaggCgggggcttgatgtggggcat	24	3	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:8420774C>T	uc001ape.2	-	19	3603	c.2793G>A	c.(2791-2793)CCG>CCA	p.P931P	RERE_uc001apf.2_Silent_p.P931P|RERE_uc010nzx.1_Silent_p.P663P|RERE_uc001apd.2_Silent_p.P377P	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	931	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GAGTGGTAGGCGGGGGCTTGA	0.687													T	8420774	C	T	8420774	2	4	16	1	0	0	0	0	0	0	0	1	13231	755	27	1		1	RERE	1	8420774	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	36082	8420774	240829847	9	12331											
RERE	473	broad.mit.edu	37	chr1	8674690	8674691	+	Frame_Shift_Ins	INS	-	-	G													caccggcagagagcatgctgINSgggggtcacacaaagcagga							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:8674689_8674690T>TG	uc001ape.3	-	4	1262_1263	c.452_453A>CA	c.(451-453)ccafs	p.P151fs	RERE_uc001apf.3_Frame_Shift_Ins_p.P151fs|RERE_uc001aph.1_Frame_Shift_Ins_p.P151fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	151	BAH.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GAGAGCATGCTGGGGGGTCACA	0.52													G	8674691	-	G	8674690	7	5	16	1	0	1	1	0	0	0	0	0	13231	1348	47	0	4328	0	RERE	1	8674690	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	253916	8674690	240575931	10	12332											
CA6	765	broad.mit.edu	37	chr1	9017324	9017324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgagcacaccgtggacGggatcagacatgtgatcgag	14	10	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:9017324G>A	uc001apm.2	+	3	412	c.388G>A	c.(388-390)GGG>AGG	p.G130R	CA6_uc009vmn.2_Missense_Mutation_p.G70R	NM_001215	NP_001206	P23280	CAH6_HUMAN	carbonic anhydrase VI precursor	130					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			ovary(2)	2	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		CACCGTGGACGGGATCAGACA	0.483													A	9017324	G	A	9017324	3	1	16	1	0	0	0	0	1	0	0	0	2521	1116	39	1	398	1	CA6	1	9017324	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	342634	9017324	240233297	11	12333											
SPSB1	80176	broad.mit.edu	37	chr1	9416314	9416315	+	Frame_Shift_Ins	INS	-	-	C													gggggtggcgacggcagacgINScccccctgcactctgtcggg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:9416314_9416315insC	uc010oae.1	+	2	703_704	c.364_365insC	c.(364-366)GCCfs	p.A122fs	SPSB1_uc001apv.2_Frame_Shift_Ins_p.A122fs	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box	122	B30.2/SPRY.				intracellular signal transduction	cytoplasm					0	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GACGGCAGACGCCCCCCTGCAC	0.658													C	9416315	-	C	9416314	7	5	16	1	0	1	1	0	0	0	0	0	15111	1087	38	0	366	0	SPSB1	1	9416314	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	398990	9416314	239834307	12	12334	31	2									
SPSB1	80176	broad.mit.edu	37	chr1	9416315	9416316	+	Frame_Shift_Ins	INS	-	-	C													ggggtggcgacggcagacgcINSccccctgcactctgtcgggt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:9416314_9416315G>GC	uc010oae.2	+	1	703_704	c.364_365G>GC	c.(364-366)gccfs	p.A122fs	SPSB1_uc001apv.3_Frame_Shift_Ins_p.A122fs	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 1 (SPSB1), mRNA.	122	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GACGGCAGACGCCCCCCTGCAC	0.658													C	9416316	-	C	9416315	7	5	16	1	0	1	1	0	0	0	0	0	15111	739	26	0	367	0	SPSB1	1	9416315	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1	9416315	239834306	13	12335	31	2									
TMEM201	199953	broad.mit.edu	37	chr1	9656943	9656943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactacaacaagccgatcccCgcccagtacttggagcacct	8	16	0	0	rs143914018		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:9656943C>T	uc001apz.2	+	3	273	c.261C>T	c.(259-261)CCC>CCT	p.P87P	TMEM201_uc001apy.2_Silent_p.P87P	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	transmembrane protein 201 isoform 1	87						integral to membrane|nuclear inner membrane					0	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCGATCCCCGCCCAGTACT	0.672													T	9656943	C	T	9656943	2	4	16	1	0	0	0	0	0	0	0	1	16123	639	23	1		1	TMEM201	1	9656943	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	240628	9656943	239593678	14	12336											
NMNAT1	64802	broad.mit.edu	37	chr1	10042553	10042553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaccggagcaacattcacGtggtgaatgaatggatcgct	11	9	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:10042553G>A	uc001aqp.2	+	5	778	c.634G>A	c.(634-636)GTG>ATG	p.V212M		NM_022787	NP_073624	Q9HAN9	NMNA1_HUMAN	nicotinamide mononucleotide adenylyltransferase	212					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding				0		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		CAACATTCACGTGGTGAATGA	0.483													A	10042553	G	A	10042553	3	1	16	1	0	0	0	0	1	0	0	0	10498	1145	40	1	648	1	NMNAT1	1	10042553	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	385610	10042553	239208068	15	12337											
CASZ1	54897	broad.mit.edu	37	chr1	10706296	10706296	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggattcggccttgccagaCgttttgcagacgtacttgca	12	10	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:10706296C>T	uc001aro.2	-	17	3905	c.3585G>A	c.(3583-3585)ACG>ACA	p.T1195T		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCTTGCCAGACGTTTTGCAGA	0.537													T	10706296	C	T	10706296	2	4	16	1	0	0	0	0	0	0	0	1	2685	523	19	1		1	CASZ1	1	10706296	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	663743	10706296	238544325	16	12338											
MTOR	2475	broad.mit.edu	37	chr1	11168277	11168277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggttttcatgggatgtcGcttgtttgatgagcagctca	13	6	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:11168277G>A	uc001asd.2	-	57	7716	c.7595C>T	c.(7594-7596)GCG>GTG	p.A2532V	MTOR_uc001asc.2_Missense_Mutation_p.A737V	NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	2532	FATC.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						ATGGGATGTCGCTTGTTTGAT	0.473													A	11168277	G	A	11168277	3	1	16	1	0	0	0	0	1	0	0	0	9954	1087	38	1	62	1	MTOR	1	11168277	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	461981	11168277	238082344	17	12339											
PRDM2	7799	broad.mit.edu	37	chr1	14107246	14107246	+	Frame_Shift_Del	DEL	C	C	-													tattaactgttgccactccgCcccctcccctccttcctacc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:14107246delC	uc001avi.2	+	8	3812	c.2956delC	c.(2956-2958)CCCfs	p.P986fs	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Frame_Shift_Del_p.P986fs|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Frame_Shift_Del_p.P785fs|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	986	Pro-rich.|SH3-binding (Potential).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TGCCACTCCGCCCCCTCCCCT	0.617													-	14107246	C	-	14107246	7	5	16	1	0	1	0	1	0	0	0	0	12458	739	26	0	2982	0	PRDM2	1	14107246	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	2938969	14107246	235143375	18	12340											
PRDM2	7799	broad.mit.edu	37	chr1	14107892	14107893	+	Frame_Shift_Ins	INS	-	-	T													gtttgtaaaaaagaatttgcINSttttttgtgcaatttgcagc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:14107892_14107893insT	uc001avi.2	+	8	4458_4459	c.3602_3603insT	c.(3601-3603)GCTfs	p.A1201fs	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Frame_Shift_Ins_p.A1201fs|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Frame_Shift_Ins_p.A1000fs|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1201	C2H2-type 6.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAAGAATTTGCTTTTTTGTGCA	0.431													T	14107893	-	T	14107892	7	5	16	1	0	1	1	0	0	0	0	0	12458	797	28	0	3628	0	PRDM2	1	14107892	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	646	14107892	235142729	19	12341	32	2									
PRDM2	7799	broad.mit.edu	37	chr1	14107893	14107894	+	Frame_Shift_Ins	INS	-	-	T													tttgtaaaaaagaatttgctINStttttgtgcaatttgcagca							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:14107892_14107893C>CT	uc001avi.3	+	7	4458_4459	c.3602_3603C>CT	c.(3601-3603)gctfs	p.A1201fs	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Frame_Shift_Ins_p.A1201fs|PRDM2_uc001avk.3_Frame_Shift_Ins_p.A1000fs|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	1201						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAAGAATTTGCTTTTTTGTGCA	0.431													T	14107894	-	T	14107893	7	5	16	1	0	1	1	0	0	0	0	0	12458	1596	56	0	3629	0	PRDM2	1	14107893	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1	14107893	235142728	20	12342	32	2									
KAZ	23254	broad.mit.edu	37	chr1	15428216	15428216	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtccaagaagttccaccaGgtcagcatcctgctggggat	12	11	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:15428216G>T	uc001avm.3	+	11	2006	c.1725G>T	c.(1723-1725)CAG>CAT	p.Q575H	KAZ_uc001avs.3_Missense_Mutation_p.Q22H	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	575	SAM 2.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0						AGTTCCACCAGGTCAGCATCC	0.597													T	15428216	G	T	15428216	3	4	16	1	0	0	0	0	1	0	0	0	7988	991	35	5	2023	5	KAZ	1	15428216	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1320323	15428216	233822405	21	12343											
RSC1A1	6248	broad.mit.edu	37	chr1	15987413	15987413	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcagaagaatcttgcccGtctataacggcagccttgaa	9	11	3	3	rs142914242		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:15987413G>A	uc010obn.1	+	1	1050	c.1050G>A	c.(1048-1050)CCG>CCA	p.P350P		NM_006511	NP_006502	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1,	350					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			ovary(1)	1		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATCTTGCCCGTCTATAACGG	0.408													A	15987413	G	A	15987413	2	1	16	1	0	0	0	0	0	0	0	1	13698	1132	40	1		1	RSC1A1	1	15987413	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	559197	15987413	233263208	22	12344											
ARHGEF19	128272	broad.mit.edu	37	chr1	16525645	16525645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccaggaggccccctcacCgtcactggtccaggtcctca	9	18	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:16525645C>T	uc001ayc.1	-	15	2388	c.2251G>A	c.(2251-2253)GGC>AGC	p.G751S	ARHGEF19_uc009voo.1_Missense_Mutation_p.G104S|ARHGEF19_uc001ayb.1_Missense_Mutation_p.G228S	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	751	SH3.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCCTCACCGTCACTGGTC	0.557													T	16525645	C	T	16525645	3	4	16	1	0	0	0	0	1	0	0	0	902	666	23	1	165	1	ARHGEF19	1	16525645	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	538232	16525645	232724976	23	12345											
PADI2	11240	broad.mit.edu	37	chr1	17431556	17431556	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggccccggctggggccgcGctgtggggagagatgagaga	21	9	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:17431556G>A	uc001baf.2	-	2	175	c.93C>T	c.(91-93)AGC>AGT	p.S31S	PADI2_uc010ocm.1_Silent_p.S31S|PADI2_uc001bag.1_Silent_p.S31S	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	31					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CTGGGGCCGCGCTGTGGGGAG	0.572													A	17431556	G	A	17431556	2	1	16	1	0	0	0	0	0	0	0	1	11378	1101	38	1		1	PADI2	1	17431556	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	905911	17431556	231819065	24	12346											
PAX7	5081	broad.mit.edu	37	chr1	19062344	19062344	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagcgtggaccccgtggcCggctatcagtacggccagta	13	13	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:19062344C>T	uc001bay.2	+	8	1972	c.1374C>T	c.(1372-1374)GCC>GCT	p.A458A	PAX7_uc001baz.2_Silent_p.A456A|PAX7_uc010oct.1_Silent_p.A458A	NM_002584	NP_002575	P23759	PAX7_HUMAN	paired box 7 isoform 1	458					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A458A(1)	PAX7/FOXO1(197)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		ACCCCGTGGCCGGCTATCAGT	0.672			T	FOXO1A	alveolar rhabdomyosarcoma								T	19062344	C	T	19062344	2	4	16	1	0	0	0	0	0	0	0	1	11484	639	23	1		1	PAX7	1	19062344	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1630788	19062344	230188277	25	12347											
HSPG2	3339	broad.mit.edu	37	chr1	22181934	22181934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttggactctgggcccacCgccccctgcagacagagtcc	10	18	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:22181934C>T	uc001bfj.2	-	47	5900	c.5860G>A	c.(5860-5862)GGT>AGT	p.G1954S	HSPG2_uc009vqd.2_Missense_Mutation_p.G1955S	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	1954	Ig-like C2-type 4.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTGGGCCCACCGCCCCCTGCA	0.687													T	22181934	C	T	22181934	3	4	16	1	0	0	0	0	1	0	0	0	7430	652	23	1	7519	1	HSPG2	1	22181934	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3119590	22181934	227068687	26	12348											
EPHB2	2048	broad.mit.edu	37	chr1	23208938	23208938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagccggaccagcccaatGgcgtgatcctggactatgag	12	14	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:23208938G>A	uc009vqj.1	+	6	1535	c.1390G>A	c.(1390-1392)GGC>AGC	p.G464S	EPHB2_uc001bge.2_Missense_Mutation_p.G464S|EPHB2_uc001bgf.2_Missense_Mutation_p.G464S|EPHB2_uc010odu.1_Missense_Mutation_p.G464S	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	464	Fibronectin type-III 2.|Extracellular (Potential).				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCAGCCCAATGGCGTGATCCT	0.612									Hereditary_Prostate_Cancer				A	23208938	G	A	23208938	3	1	16	1	0	0	0	0	1	0	0	0	5175	1348	47	4	1412	4	EPHB2	1	23208938	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1027004	23208938	226041683	27	12349											
ASAP3	55616	broad.mit.edu	37	chr1	23760793	23760793	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagcagcttgaggcagtcGggctggttgtagagtgctgc	17	8	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:23760793G>T	uc001bha.2	-	19	2029	c.1905C>A	c.(1903-1905)CCC>CCA	p.P635P	ASAP3_uc001bgy.1_Silent_p.P139P|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Silent_p.P504P|ASAP3_uc010oea.1_Silent_p.P626P|ASAP3_uc001bhb.2_Silent_p.P158P	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	635	ANK 2.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						TGAGGCAGTCGGGCTGGTTGT	0.493													T	23760793	G	T	23760793	2	4	16	1	0	0	0	0	0	0	0	1	1012	1103	39	5		5	ASAP3	1	23760793	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	551855	23760793	225489828	28	12350											
LYPLA2	11313	broad.mit.edu	37	chr1	24119502	24119502	+	Frame_Shift_Del	DEL	T	T	-													tcccatccttttccaggttaTttttttacatggacttggag							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:24119501_24119501AT>A	uc001bht.3	+	2	203	c.82_82AT>A	c.(82-84)attfs	p.I28fs		NM_007260	NP_009191	O95372	LYPA2_HUMAN	Homo sapiens lysophospholipase II (LYPLA2), mRNA.	28					fatty acid metabolic process	cytoplasm	hydrolase activity			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TTTCCAGGTTATTTTTTTACA	0.582													-	24119502	T	-	24119502	7	5	16	1	0	1	0	1	0	0	0	0	9117	1493	52	0	89	0	LYPLA2	1	24119502	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	358709	24119502	225131119	29	12351											
EXTL1	2134	broad.mit.edu	37	chr1	26357744	26357744	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggacttccccttctactAcctgcaacagggtatgccct	7	16	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:26357744A>G	uc001blf.2	+	5	2090	c.1223A>G	c.(1222-1224)TAC>TGC	p.Y408C		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	exostoses-like 1	408	Lumenal (Potential).				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTTCTACTACCTGCAACAG	0.612													G	26357744	A	G	26357744	3	3	16	1	0	0	0	0	1	0	0	0	5325	391	14	3	1241	3	EXTL1	1	26357744	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	2238242	26357744	222892877	30	12352											
ARID1A	8289	broad.mit.edu	37	chr1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-													tgctgcactggcggattggtGggggggacaccactgagcat							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACA	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27105931	G	-	27105931	7	5	16	1	0	1	0	1	0	0	0	0	913	1348	47	0	5620	0	ARID1A	1	27105931	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	748187	27105931	222144690	31	12353											
ARID1A	8289	broad.mit.edu	37	chr1	27106862	27106862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgcgcttcctcagtgaccGaaagaacccggtgtgccggg	15	12	1	2	rs142069738		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:27106862G>A	uc001bmv.1	+	20	6846	c.6473G>A	c.(6472-6474)CGA>CAA	p.R2158Q	ARID1A_uc001bmu.1_Missense_Mutation_p.R1941Q|ARID1A_uc001bmx.1_Missense_Mutation_p.R1004Q|ARID1A_uc009vsm.1_Missense_Mutation_p.R486Q|ARID1A_uc009vsn.1_Missense_Mutation_p.R400Q	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2158					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.R2158*(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTCAGTGACCGAAAGAACCCG	0.597			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								A	27106862	G	A	27106862	3	1	16	1	0	0	0	0	1	0	0	0	913	1058	37	1	6551	1	ARID1A	1	27106862	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	931	27106862	222143759	32	12354											
MAP3K6	9064	broad.mit.edu	37	chr1	27687696	27687696	+	Frame_Shift_Del	DEL	G	G	-													acagctggacgtcctgagccGgggggagtgcatagaggaag					rs139401154		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:27687696delG	uc001bny.1	-	13	2033	c.1784delC	c.(1783-1785)CCGfs	p.P595fs	MAP3K6_uc009vsw.1_Frame_Shift_Del_p.P587fs|MAP3K6_uc001bnz.1_Frame_Shift_Del_p.P118fs	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	595					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GTCCTGAGCCGGGGGGAGTGC	0.662													-	27687696	G	-	27687696	7	5	16	1	0	1	0	1	0	0	0	0	9254	1116	39	0	2150	0	MAP3K6	1	27687696	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	580834	27687696	221562925	33	12355											
MATN1	4146	broad.mit.edu	37	chr1	31194535	31194535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttctcaaattcaacaggcCgaacgctgcgagagctgtcg	10	12	2	1	rs147880584		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:31194535C>T	uc001brz.2	-	2	192	c.158G>A	c.(157-159)CGG>CAG	p.R53Q	uc001bsb.1_RNA|MATN1_uc001bsa.1_5'Flank	NM_002379	NP_002370	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein precursor	53	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)	1		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TTCAACAGGCCGAACGCTGCG	0.607													T	31194535	C	T	31194535	3	4	16	1	0	0	0	0	1	0	0	0	9333	652	23	1	1360	1	MATN1	1	31194535	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3506839	31194535	218056086	34	12356											
PUM1	9698	broad.mit.edu	37	chr1	31452917	31452917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatgtctcacctagtgtcGctgctgcagccaatccagct	9	13	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:31452917G>A	uc001bsi.1	-	9	1459	c.1346C>T	c.(1345-1347)GCG>GTG	p.A449V	PUM1_uc001bsf.1_Missense_Mutation_p.A115V|PUM1_uc001bsg.1_Missense_Mutation_p.A262V|PUM1_uc001bsh.1_Missense_Mutation_p.A449V|PUM1_uc001bsj.1_Missense_Mutation_p.A450V|PUM1_uc010oga.1_Missense_Mutation_p.A353V|PUM1_uc001bsk.1_Missense_Mutation_p.A485V|PUM1_uc010ogb.1_Missense_Mutation_p.A390V	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	449	Ala-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ACCTAGTGTCGCTGCTGCAGC	0.493													A	31452917	G	A	31452917	3	1	16	1	0	0	0	0	1	0	0	0	12825	1087	38	1	2276	1	PUM1	1	31452917	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	258382	31452917	217797704	35	12357											
TMEM39B	55116	broad.mit.edu	37	chr1	32557419	32557419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctgacactgcgggagaCgtggaagcagcacacaagac	12	13	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:32557419C>T	uc010ogv.1	+	6	880	c.734C>T	c.(733-735)ACG>ATG	p.T245M	TMEM39B_uc010ogt.1_RNA|TMEM39B_uc010ogu.1_Missense_Mutation_p.T118M|TMEM39B_uc001bue.3_Missense_Mutation_p.T246M|TMEM39B_uc001buf.3_Missense_Mutation_p.T46M|TMEM39B_uc010ogw.1_Missense_Mutation_p.T46M	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	245						integral to membrane					0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTGCGGGAGACGTGGAAGCAG	0.642													T	32557419	C	T	32557419	3	4	16	1	0	0	0	0	1	0	0	0	16159	536	19	1	756	1	TMEM39B	1	32557419	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1104502	32557419	216693202	36	12358											
IQCC	55721	broad.mit.edu	37	chr1	32672879	32672879	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactgagatccccagaggcGggcccgatcagagaggaacc	13	13	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:32672879G>A	uc001bum.2	+	5	644	c.597G>A	c.(595-597)GCG>GCA	p.A199A	IQCC_uc009vua.2_Silent_p.A279A|IQCC_uc010ogz.1_Silent_p.A99A|DCDC2B_uc001bun.2_5'Flank	NM_018134	NP_060604	Q4KMZ1	IQCC_HUMAN	IQ motif containing C isoform 2	199										ovary(4)	4		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCCCAGAGGCGGGCCCGATCA	0.567													A	32672879	G	A	32672879	2	1	16	1	0	0	0	0	0	0	0	1	7804	1103	39	1		1	IQCC	1	32672879	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	115460	32672879	216577742	37	12359											
GJA4	2701	broad.mit.edu	37	chr1	35260514	35260514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agttggtgcacctgctgtgtCgctgcctcagccgggggatg	16	11	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:35260514C>T	uc001bya.2	+	2	788	c.700C>T	c.(700-702)CGC>TGC	p.R234C	GJA4_uc009vul.2_Missense_Mutation_p.R310C|GJA4_uc009vum.1_Missense_Mutation_p.R234C	NM_002060	NP_002051	P35212	CXA4_HUMAN	connexin 37	234	Cytoplasmic (Potential).				cell-cell junction assembly	integral to plasma membrane				central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CCTGCTGTGTCGCTGCCTCAG	0.602													T	35260514	C	T	35260514	3	4	16	1	0	0	0	0	1	0	0	0	6403	884	31	1	702	1	GJA4	1	35260514	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2587635	35260514	213990107	38	12360											
NCDN	23154	broad.mit.edu	37	chr1	36026733	36026733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactggaggagacgggcacGgaggtgaaagaggatgtggt	20	5	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:36026733G>A	uc001bza.2	+	4	1108	c.981G>A	c.(979-981)ACG>ACA	p.T327T	NCDN_uc001bzb.2_Silent_p.T327T|NCDN_uc001bzc.2_Silent_p.T310T	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	327					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGACGGGCACGGAGGTGAAAG	0.627													A	36026733	G	A	36026733	2	1	16	1	0	0	0	0	0	0	0	1	10214	1103	39	1		1	NCDN	1	36026733	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	766219	36026733	213223888	39	12361											
THRAP3	9967	broad.mit.edu	37	chr1	36757051	36757051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaaaaaggaacaggagtttCgttccattttccagcacata	7	9	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:36757051C>T	uc001cae.3	+	6	2046	c.1822C>T	c.(1822-1824)CGT>TGT	p.R608C	THRAP3_uc001caf.3_Missense_Mutation_p.R608C	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	608					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACAGGAGTTTCGTTCCATTTT	0.463			T	USP6	aneurysmal bone cysts								T	36757051	C	T	36757051	3	4	16	1	0	0	0	0	1	0	0	0	15871	884	31	1	1836	1	THRAP3	1	36757051	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	730318	36757051	212493570	40	12362											
MTF1	4520	broad.mit.edu	37	chr1	38288328	38288328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaagatgctgaatttcctGtggatggcggaacatcactg	11	7	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:38288328G>A	uc001cce.1	-	9	1373	c.1232C>T	c.(1231-1233)ACA>ATA	p.T411I	MTF1_uc009vvj.1_Missense_Mutation_p.T102I	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	411						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGAATTTCCTGTGGATGGCGG	0.473													A	38288328	G	A	38288328	3	1	16	1	0	0	0	0	1	0	0	0	9922	1377	48	4	1041	4	MTF1	1	38288328	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1531277	38288328	210962293	41	12363											
MTF1	4520	broad.mit.edu	37	chr1	38305655	38305655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaaatggcttctccttcGtgtgcactcgcacgtggatc	9	13	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:38305655G>A	uc001cce.1	-	3	725	c.584C>T	c.(583-585)ACG>ATG	p.T195M	MTF1_uc009vvj.1_Translation_Start_Site	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	195						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTTCTCCTTCGTGTGCACTCG	0.537													A	38305655	G	A	38305655	3	1	16	1	0	0	0	0	1	0	0	0	9922	1145	40	1	1713	1	MTF1	1	38305655	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	17327	38305655	210944966	42	12364											
NT5C1A	84618	broad.mit.edu	37	chr1	40131856	40131856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctgctcctcgtccatgCgaaacaaggctcgggaggac	12	13	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:40131856C>T	uc001cdq.1	-	2	188	c.188G>A	c.(187-189)CGC>CAC	p.R63H		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	63					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTCGTCCATGCGAAACAAGGC	0.597													T	40131856	C	T	40131856	3	4	16	1	0	0	0	0	1	0	0	0	10685	768	27	1	938	1	NT5C1A	1	40131856	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1826201	40131856	209118765	43	12365											
FOXJ3	22887	broad.mit.edu	37	chr1	42776750	42776750	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttacagatggacaagcctgTccatacaaacccatctggcc	8	13	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:42776750T>A	uc001che.2	-	4	327	c.15A>T	c.(13-15)GGA>GGT	p.G5G	FOXJ3_uc001chf.2_Silent_p.G5G|FOXJ3_uc001chg.2_Silent_p.G5G|FOXJ3_uc001chh.1_Silent_p.G5G	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	5					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)	2	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GACAAGCCTGTCCATACAAAC	0.328													A	42776750	T	A	42776750	2	1	16	1	0	0	0	0	0	0	0	1	6013	1654	58	5		5	FOXJ3	1	42776750	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	2644894	42776750	206473871	44	12366											
TIE1	7075	broad.mit.edu	37	chr1	43770692	43770692	+	Frame_Shift_Del	DEL	C	C	-													tgcgcaccccgcccgggccaCccctgcgcctggcgcgcaac							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:43770692delC	uc001ciu.2	+	2	308	c.229delC	c.(229-231)CCCfs	p.P77fs	TIE1_uc010okd.1_Frame_Shift_Del_p.P77fs|TIE1_uc010oke.1_Frame_Shift_Del_p.P32fs|TIE1_uc009vwq.2_Frame_Shift_Del_p.P77fs|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.1_5'Flank|TIE1_uc010oka.1_Frame_Shift_Del_p.P77fs|TIE1_uc010okb.1_Frame_Shift_Del_p.P77fs|TIE1_uc010okc.1_Frame_Shift_Del_p.P77fs	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	77	Extracellular (Potential).|Ig-like C2-type 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCCGGGCCACCCCTGCGCCT	0.746													-	43770692	C	-	43770692	7	5	16	1	0	1	0	1	0	0	0	0	15890	507	18	0	235	0	TIE1	1	43770692	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	993942	43770692	205479929	45	12367											
PTPRF	5792	broad.mit.edu	37	chr1	44069662	44069662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggcggagaggaacgggCgcatcatcagctacaccgtg	15	11	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:44069662C>T	uc001cjr.2	+	16	3179	c.2839C>T	c.(2839-2841)CGC>TGC	p.R947C	PTPRF_uc001cjs.2_Missense_Mutation_p.R938C|PTPRF_uc001cju.2_Intron|PTPRF_uc009vwt.2_Missense_Mutation_p.R507C|PTPRF_uc001cjv.2_Missense_Mutation_p.R407C|PTPRF_uc001cjw.2_Missense_Mutation_p.R173C	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	947	Fibronectin type-III 7.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGGAACGGGCGCATCATCAG	0.602													T	44069662	C	T	44069662	3	4	16	1	0	0	0	0	1	0	0	0	12801	768	27	1	2893	1	PTPRF	1	44069662	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	298970	44069662	205180959	46	12368											
TOE1	114034	broad.mit.edu	37	chr1	45809251	45809251	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctctggaccctggctcccTgaatgccacaataaggtata	9	12	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:45809251T>C	uc009vxq.2	+	8	1993	c.1410T>C	c.(1408-1410)CCT>CCC	p.P470P	TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Silent_p.P390P|TOE1_uc001cnr.3_RNA	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	470						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)					CCTGGCTCCCTGAATGCCACA	0.532													C	45809251	T	C	45809251	2	2	16	1	0	0	0	0	0	0	0	1	16346	1567	55	3		3	TOE1	1	45809251	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	1739589	45809251	203441370	47	12369											
TESK2	10420	broad.mit.edu	37	chr1	45813598	45813598	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggctacacacctgacatcGgggatcttctcagccaggcc	11	14	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:45813598G>A	uc001cns.1	-	6	1018	c.615C>T	c.(613-615)CCC>CCT	p.P205P	TESK2_uc009vxr.1_Silent_p.P205P|TESK2_uc010olo.1_Silent_p.P122P|TESK2_uc009vxs.1_5'UTR	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	testis-specific protein kinase 2	205	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(2)|pancreas(1)	5	Acute lymphoblastic leukemia(166;0.155)					ACCTGACATCGGGGATCTTCT	0.542													A	45813598	G	A	45813598	2	1	16	1	0	0	0	0	0	0	0	1	15765	1103	39	1		1	TESK2	1	45813598	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	4347	45813598	203437023	48	12370											
CCDC17	149483	broad.mit.edu	37	chr1	46088681	46088681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacacctctagagctcccCgcgtcctcccggcctcagct	7	21	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:46088681C>T	uc010olt.1	-	4	750	c.602G>A	c.(601-603)CGG>CAG	p.R201Q	CCDC17_uc009vxy.2_Missense_Mutation_p.R169Q|CCDC17_uc010ols.1_Missense_Mutation_p.R192Q|CCDC17_uc001com.3_Missense_Mutation_p.R22Q|CCDC17_uc001con.3_RNA|CCDC17_uc009vxz.2_Intron	NM_001114938	NP_001108410	Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	201	Potential.									ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					TAGAGCTCCCCGCGTCCTCCC	0.672													T	46088681	C	T	46088681	3	4	16	1	0	0	0	0	1	0	0	0	2793	652	23	1	1306	1	CCDC17	1	46088681	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	275083	46088681	203161940	49	12371											
GLIS1	148979	broad.mit.edu	37	chr1	54059810	54059810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgggcttctcgcccgagtGcactcgcatgtggatgagca	14	11	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:54059810G>A	uc001cvr.1	-	3	1333	c.766C>T	c.(766-768)CAC>TAC	p.H256Y		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	256	C2H2-type 2; atypical.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			skin(1)	1						TCGCCCGAGTGCACTCGCATG	0.662													A	54059810	G	A	54059810	3	1	16	1	0	0	0	0	1	0	0	0	6445	1319	46	2	1128	2	GLIS1	1	54059810	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	7971129	54059810	195190811	50	12372											
FGGY	55277	broad.mit.edu	37	chr1	59812017	59812017	+	Frame_Shift_Del	DEL	G	G	-													acagtgtcctccagtacgtcGggggggtgatgtctgtggaa					rs145440779	by1000genomes	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:59812016_59812016CG>C	uc009wac.3	+	3	623	c.411_411CG>C	c.(409-411)gtcfs	p.V137fs	FGGY_uc001czg.2_Frame_Shift_Del_p.V25fs|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Frame_Shift_Del_p.V137fs|FGGY_uc001czl.4_Intron	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGA	0.502													-	59812017	G	-	59812017	7	5	16	1	0	1	0	1	0	0	0	0	5871	1116	39	0	422	0	FGGY	1	59812017	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	5752207	59812017	189438604	51	12373											
INADL	10207	broad.mit.edu	37	chr1	62503676	62503676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcagtcaatcagatggcCgttactccctttccagtgcc	9	13	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:62503676C>T	uc001dab.2	+	30	4101	c.3987C>T	c.(3985-3987)GCC>GCT	p.A1329A	INADL_uc009waf.1_Silent_p.A1329A|INADL_uc001daa.2_Silent_p.A1329A|INADL_uc001dad.3_Silent_p.A1026A|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Silent_p.A113A|INADL_uc009wag.2_Silent_p.A113A|INADL_uc010oou.1_Silent_p.A2A	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1329					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						ATCAGATGGCCGTTACTCCCT	0.378													T	62503676	C	T	62503676	2	4	16	1	0	0	0	0	0	0	0	1	7731	639	23	1		1	INADL	1	62503676	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2691659	62503676	186746945	52	12374											
MIER1	57708	broad.mit.edu	37	chr1	67450349	67450349	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaggtggaaataagaaAccacttcatgcagatatgga	9	8	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:67450349A>C	uc001dde.2	+	14	1598	c.1464A>C	c.(1462-1464)AAA>AAC	p.K488N	MIER1_uc010opf.1_Intron|MIER1_uc009way.2_Intron|MIER1_uc001ddc.2_Intron|MIER1_uc001ddh.2_Intron|MIER1_uc001ddf.2_Missense_Mutation_p.K452N|MIER1_uc001ddg.2_Missense_Mutation_p.K408N|MIER1_uc010opg.1_Missense_Mutation_p.K452N|MIER1_uc001ddj.1_Missense_Mutation_p.K435N|MIER1_uc001ddi.2_Intron	NM_001077700	NP_001071168	Q8N108	MIER1_HUMAN	mesoderm induction early response 1 isoform b	459					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)	1						GAAATAAGAAACCACTTCATG	0.363													C	67450349	A	C	67450349	3	2	16	1	0	0	0	0	1	0	0	0	9580	40	2	5	1595	5	MIER1	1	67450349	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	4946673	67450349	181800272	53	12375											
SERBP1	26135	broad.mit.edu	37	chr1	67880887	67880887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtttgggcgcccaccacGcccacgtccacctcgtcctc	9	20	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:67880887G>A	uc001ddv.2	-	7	1272	c.1132C>T	c.(1132-1134)CGT>TGT	p.R378C	SERBP1_uc001ddx.2_Missense_Mutation_p.R372C|SERBP1_uc001ddy.2_Missense_Mutation_p.R357C|SERBP1_uc001ddw.2_Missense_Mutation_p.R363C	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1 isoform 1	378					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			skin(1)	1						CGCCCACCACGCCCACGTCCA	0.532													A	67880887	G	A	67880887	3	1	16	1	0	0	0	0	1	0	0	0	14075	1087	38	1	102	1	SERBP1	1	67880887	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	430538	67880887	181369734	54	12376											
TNNI3K	51086	broad.mit.edu	37	chr1	74957869	74957869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccggggaggacctggccGgagtcatgtggcagcattaa	16	9	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:74957869G>A	uc001dgf.1	+	23	2321	c.2270G>A	c.(2269-2271)CGG>CAG	p.R757Q	TNNI3K_uc001dge.1_Missense_Mutation_p.R858Q	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	757						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						GGACCTGGCCGGAGTCATGTG	0.488													A	74957869	G	A	74957869	3	1	16	1	0	0	0	0	1	0	0	0	16326	1116	39	1	2715	1	TNNI3K	1	74957869	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	7076982	74957869	174292752	55	12377											
C1orf173	127254	broad.mit.edu	37	chr1	75037295	75037295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttgctattgttttctcctCggctgtctccgaacctgcca	7	13	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:75037295C>T	uc001dgg.2	-	14	4318	c.4099G>A	c.(4099-4101)GAG>AAG	p.E1367K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1367	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						GTTTTCTCCTCGGCTGTCTCC	0.517													T	75037295	C	T	75037295	3	4	16	1	0	0	0	0	1	0	0	0	2014	893	31	1	497	1	C1orf173	1	75037295	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	79426	75037295	174213326	56	12378											
FUBP1	8880	broad.mit.edu	37	chr1	78422353	78422353	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgagcgtaataagcagcccAagctgctgaatttggatccg	12	9	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:78422353A>G	uc001dii.2	-	17	1698	c.1609T>C	c.(1609-1611)TGG>CGG	p.W537R	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.W558R	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	537	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3						TAAGCAGCCCAAGCTGCTGAA	0.453													G	78422353	A	G	78422353	3	3	16	1	0	0	0	0	1	0	0	0	6092	130	5	3	341	3	FUBP1	1	78422353	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	3385058	78422353	170828268	57	12379											
WDR63	126820	broad.mit.edu	37	chr1	85598680	85598680	+	Frame_Shift_Del	DEL	A	A	-													gtcatacatggaggtgatgtAaaaaagcttcctgaaggggt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:85598680delA	uc001dkt.2	+	23	2866	c.2675delA	c.(2674-2676)TAAfs	p.*892fs	WDR63_uc009wcl.2_Frame_Shift_Del_p.*853fs	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	892										upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GAGGTGATGTAAAAAAGCTTC	0.388													-	85598680	A	-	85598680	7	5	16	1	0	1	0	1	0	0	0	0	17311	369	13	0	2761	0	WDR63	1	85598680	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	7176327	85598680	163651941	58	12380											
PKN2	5586	broad.mit.edu	37	chr1	89206691	89206691	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggattcccgaagtcttccGttttctgagaatgtgagtgc	13	8	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:89206691G>A	uc001dmn.2	+	2	411	c.69G>A	c.(67-69)CCG>CCA	p.P23P	PKN2_uc001dmm.1_Silent_p.P23P|PKN2_uc010osp.1_Silent_p.P23P|PKN2_uc010osq.1_Intron|PKN2_uc009wcv.2_Silent_p.P23P	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	23					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GAAGTCTTCCGTTTTCTGAGA	0.378													A	89206691	G	A	89206691	2	1	16	1	0	0	0	0	0	0	0	1	11980	1132	40	1		1	PKN2	1	89206691	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	3608011	89206691	160043930	59	12381											
HFM1	164045	broad.mit.edu	37	chr1	91844741	91844741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctttccagtcatcaaaaCgctgactgcacaaggctttt	6	11	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:91844741C>T	uc001doa.3	-	9	1137	c.1037G>A	c.(1036-1038)CGT>CAT	p.R346H	HFM1_uc010osu.1_Missense_Mutation_p.R25H|HFM1_uc010osv.1_Missense_Mutation_p.R30H|HFM1_uc001doc.1_Missense_Mutation_p.R346H	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	346	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTCATCAAAACGCTGACTGCA	0.323													T	91844741	C	T	91844741	3	4	16	1	0	0	0	0	1	0	0	0	7083	536	19	1	3394	1	HFM1	1	91844741	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2638050	91844741	157405880	60	12382											
EVI5	7813	broad.mit.edu	37	chr1	93029202	93029202	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaatttatcacttacctcAtgattcagctctgctatctg	4	11	5	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:93029202A>G	uc001dox.2	-	17	2125	c.2115T>C	c.(2113-2115)CAT>CAC	p.H705H	EVI5_uc010otf.1_Silent_p.H716H|EVI5_uc001doy.1_RNA	NM_005665	NP_005656	O60447	EVI5_HUMAN	ecotropic viral integration site 5	705	Targeting to the centrosomes.|Potential.|Interaction with AURKB and INCENP.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			ovary(1)|breast(1)	2		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CACTTACCTCATGATTCAGCT	0.358													G	93029202	A	G	93029202	2	3	16	1	0	0	0	0	0	0	0	1	5289	214	8	3		3	EVI5	1	93029202	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	1184461	93029202	156221419	61	12383											
RWDD3	25950	broad.mit.edu	37	chr1	95709927	95709928	+	Frame_Shift_Del	DEL	TG	TG	-													accagggcccagtgtgtgacTgtgaaagagaatttacttga							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:95709927_95709928delTG	uc009wdu.2	+	2	322_323	c.246_247delTG	c.(244-249)ACTGTGfs	p.T82fs	RWDD3_uc001drd.3_3'UTR|RWDD3_uc010oty.1_Frame_Shift_Del_p.T67fs|RWDD3_uc009wdt.2_Frame_Shift_Del_p.T82fs|RWDD3_uc001drf.3_Frame_Shift_Del_p.T82fs|RWDD3_uc001drh.3_Frame_Shift_Del_p.T67fs|RWDD3_uc009wdv.2_Intron|RWDD3_uc001drg.3_RNA|RWDD3_uc001dri.3_Frame_Shift_Del_p.T82fs	NM_015485	NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3 isoform a	82_83	RWD.					cytoplasm|nucleus	protein binding			ovary(1)	1		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		AGTGTGTGACTGTGAAAGAGAA	0.46													-	95709928	TG	-	95709927	7	5	16	1	0	1	0	1	0	0	0	0	13757	1567	55	0	252	0	RWDD3	1	95709927	Frame_Shift_Del	DEL	TG	TCGA-BR-4292-01A-01D-1126-08	2680725	95709927	153540694	62	12384											
KCNA2	3737	broad.mit.edu	37	chr1	111146149	111146149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcctctccctctgtctccCggtggtagaagtagttgaaa	10	11	3	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:111146149C>T	uc001dzu.2	-	2	1752	c.1256G>A	c.(1255-1257)CGG>CAG	p.R419Q	KCNA2_uc009wfv.1_Intron|KCNA2_uc009wfw.2_Missense_Mutation_p.R419Q	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	419						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CTCTGTCTCCCGGTGGTAGAA	0.498													T	111146149	C	T	111146149	3	4	16	1	0	0	0	0	1	0	0	0	8003	652	23	1	247	1	KCNA2	1	111146149	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	15436222	111146149	138104472	63	12385											
WNT2B	7482	broad.mit.edu	37	chr1	113033683	113033683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatacctacacagtcagcGttcaacaagtgtttgcaaag	9	10	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:113033683G>A	uc001eca.2	+	2	225	c.105G>A	c.(103-105)GCG>GCA	p.A35A	WNT2B_uc009wgg.2_Intron	NM_004185	NP_004176	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family,	Error:Variant_position_missing_in_Q93097_after_alignment					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			ovary(2)|breast(2)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		cacagtcagcgttcaacaagt	0.07													A	113033683	G	A	113033683	2	1	16	1	0	0	0	0	0	0	0	1	17384	1132	40	1		1	WNT2B	1	113033683	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1887534	113033683	136216938	64	12386											
SLC22A15	55356	broad.mit.edu	37	chr1	116609275	116609275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgaccttcaggtgtattcGtatcgcaggctgggagaaga	13	9	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:116609275G>A	uc001egb.3	+	11	1630	c.1500G>A	c.(1498-1500)TCG>TCA	p.S500S		NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	500					ion transport	integral to membrane	transmembrane transporter activity			large_intestine(2)	2	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AGGTGTATTCGTATCGCAGGC	0.488													A	116609275	G	A	116609275	2	1	16	1	0	0	0	0	0	0	0	1	14446	1132	40	1		1	SLC22A15	1	116609275	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	3575592	116609275	132641346	65	12387											
IGSF3	3321	broad.mit.edu	37	chr1	117146451	117146451	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcgctcccagtaggaCgagcctggctgcacggtgcc	14	15	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:117146451C>T	uc001egr.1	-	6	2124	c.1419G>A	c.(1417-1419)TCG>TCA	p.S473S	IGSF3_uc001egq.1_Silent_p.S493S|IGSF3_uc001egs.1_Silent_p.S146S	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	473	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCCAGTAGGACGAGCCTGGCT	0.622													T	117146451	C	T	117146451	2	4	16	1	0	0	0	0	0	0	0	1	7601	523	19	1		1	IGSF3	1	117146451	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	537176	117146451	132104170	66	12388											
TRIM45	80263	broad.mit.edu	37	chr1	117661189	117661189	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtccccatgcttgtggatgAcattgctggtgaagtcacag	12	9	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:117661189A>G	uc001egz.2	-	2	1277	c.689T>C	c.(688-690)GTC>GCC	p.V230A	TRIM45_uc009whe.2_Missense_Mutation_p.V230A|TRIM45_uc001eha.2_Missense_Mutation_p.V126A	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	tripartite motif-containing 45 isoform 1	230						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CTTGTGGATGACATTGCTGGT	0.577													G	117661189	A	G	117661189	3	3	16	1	0	0	0	0	1	0	0	0	16517	275	10	3	1073	3	TRIM45	1	117661189	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	514738	117661189	131589432	67	12389											
SPAG17	200162	broad.mit.edu	37	chr1	118634309	118634309	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaataattgtaatatcTcatgtctacttcagttgtga	6	7	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:118634309T>C	uc001ehk.2	-	10	1347	c.1279A>G	c.(1279-1281)AGA>GGA	p.R427G		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	427						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTGTAATATCTCATGTCTACT	0.373													C	118634309	T	C	118634309	3	2	16	1	0	0	0	0	1	0	0	0	14979	1559	54	3	5548	3	SPAG17	1	118634309	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	973120	118634309	130616312	68	12390											
SPAG17	200162	broad.mit.edu	37	chr1	118642346	118642346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataggaatgccaagctcagCcataattgctaatagctgag	9	8	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:118642346C>T	uc001ehk.2	-	6	780	c.712G>A	c.(712-714)GCT>ACT	p.A238T		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	238						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCAAGCTCAGCCATAATTGCT	0.418													T	118642346	C	T	118642346	3	4	16	1	0	0	0	0	1	0	0	0	14979	739	26	2	6131	2	SPAG17	1	118642346	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	8037	118642346	130608275	69	12391											
ADAM30	11085	broad.mit.edu	37	chr1	120437609	120437609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acacacgtatccagatggacGaaaccgacaatcatgacagc	8	12	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:120437609G>A	uc001eij.2	-	1	1505	c.1351C>T	c.(1351-1353)CGT>TGT	p.R451C		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	451	Disintegrin.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CCAGATGGACGAAACCGACAA	0.463													A	120437609	G	A	120437609	3	1	16	1	0	0	0	0	1	0	0	0	248	1058	37	1	1025	1	ADAM30	1	120437609	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1795263	120437609	128813012	70	12392											
POLR3C	10623	broad.mit.edu	37	chr1	145608566	145608566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaagcattcgcaatacccGgctgcactgggcttcatact	8	13	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:145608566G>A	uc001eoh.2	-	3	402	c.241C>T	c.(241-243)CGG>TGG	p.R81W	NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Missense_Mutation_p.R94W|POLR3C_uc001eoi.2_Intron|POLR3C_uc009wix.2_Missense_Mutation_p.R81W	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	81					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			CGCAATACCCGGCTGCACTGG	0.483													A	145608566	G	A	145608566	3	1	16	1	0	0	0	0	1	0	0	0	12230	1115	39	1	1415	1	POLR3C	1	145608566	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	25170957	145608566	103642055	71	12393											
PLEKHO1	51177	broad.mit.edu	37	chr1	150123100	150123100	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcatcttgtcctggggcAgggacctcaggatggaaacc	12	11	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:150123100A>G	uc001ett.2	+	2	309	c.31_splice	c.e2-2	p.G11_splice	PLEKHO1_uc001etr.2_Splice_Site|PLEKHO1_uc001ets.2_Splice_Site	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O							cytoplasm|nucleus|plasma membrane				lung(1)	1	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCCTGGGGCAGGGACCTCAG	0.617													G	150123100	A	G	150123100	5	3	16	1	0	0	0	0	0	0	1	0	12084	202	7	3	35	3	PLEKHO1	1	150123100	Splice_Site	SNP	A	TCGA-BR-4292-01A-01D-1126-08	4514534	150123100	99127521	72	12394											
PLEKHO1	51177	broad.mit.edu	37	chr1	150131249	150131249	+	Frame_Shift_Del	DEL	C	C	-													agacaaaggggccacctacaCcccccaggcacccaagaagt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:150131248_150131248AC>A	uc001ett.3	+	5	1038	c.760_760AC>A	c.(760-762)accfs	p.T254fs	PLEKHO1_uc001ets.3_Frame_Shift_Del_p.T71fs|PLEKHO1_uc001etu.3_Frame_Shift_Del_p.T82fs|PLEKHO1_uc021oyc.1_Frame_Shift_Del_p.T71fs	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA.	254	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCCACCTACACCCCCCAGGC	0.647													-	150131249	C	-	150131249	7	5	16	1	0	1	0	1	0	0	0	0	12084	507	18	0	783	0	PLEKHO1	1	150131249	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	8149	150131249	99119372	73	12395											
VPS72	6944	broad.mit.edu	37	chr1	151149142	151149142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttaatgacaattttctggCgcaaggctcggggcccagag	12	9	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:151149142C>T	uc001exe.1	-	6	1116	c.1073G>A	c.(1072-1074)CGC>CAC	p.R358H	TMOD4_uc001exd.2_5'Flank|TMOD4_uc001exc.3_5'Flank|TMOD4_uc010pct.1_5'Flank	NM_005997	NP_005988	Q15906	VPS72_HUMAN	transcription factor-like 1	358					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|pancreas(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AATTTTCTGGCGCAAGGCTCG	0.582													T	151149142	C	T	151149142	3	4	16	1	0	0	0	0	1	0	0	0	17214	768	27	1	25	1	VPS72	1	151149142	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1017893	151149142	98101479	74	12396											
ZNF687	57592	broad.mit.edu	37	chr1	151261166	151261166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggcctgtctgcacgtctctCgccgtgtaggatacaggtgc	13	12	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:151261166C>T	uc001exq.2	+	3	2376	c.2278C>T	c.(2278-2280)CGC>TGC	p.R760C	ZNF687_uc009wmo.2_Missense_Mutation_p.R760C|ZNF687_uc009wmp.2_Missense_Mutation_p.R760C	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	760					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCACGTCTCTCGCCGTGTAGG	0.562													T	151261166	C	T	151261166	3	4	16	1	0	0	0	0	1	0	0	0	18089	884	31	1	2284	1	ZNF687	1	151261166	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	112024	151261166	97989455	75	12397											
FLG	2312	broad.mit.edu	37	chr1	152275642	152275642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacatgactggctgtatcgCggtgagaggatccggggtgt	17	7	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:152275642C>T	uc001ezu.1	-	3	11756	c.11720G>A	c.(11719-11721)CGC>CAC	p.R3907H		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3907	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCTGTATCGCGGTGAGAGGA	0.502									Ichthyosis				T	152275642	C	T	152275642	3	4	16	1	0	0	0	0	1	0	0	0	5922	768	27	1	469	1	FLG	1	152275642	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1014476	152275642	96974979	76	12398											
FLG	2312	broad.mit.edu	37	chr1	152283084	152283084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccctgactggccacgtgcGgactctttgtggctctgctg	12	14	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:152283084G>A	uc001ezu.1	-	3	4314	c.4278C>T	c.(4276-4278)TCC>TCT	p.S1426S	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1426	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACGTGCGGACTCTTTGT	0.557									Ichthyosis				A	152283084	G	A	152283084	2	1	16	1	0	0	0	0	0	0	0	1	5922	1103	39	1		1	FLG	1	152283084	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	7442	152283084	96967537	77	12399											
FLG	2312	broad.mit.edu	37	chr1	152284397	152284397	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgaccggctctgtcttcgtGatgggacctggggtgtctgg	17	9	3	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:152284397G>A	uc001ezu.1	-	3	3001	c.2965C>T	c.(2965-2967)CAC>TAC	p.H989Y	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	989	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCTTCGTGATGGGACCTG	0.572									Ichthyosis				A	152284397	G	A	152284397	3	1	16	1	0	0	0	0	1	0	0	0	5922	1290	45	4	9224	4	FLG	1	152284397	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1313	152284397	96966224	78	12400											
FLG	2312	broad.mit.edu	37	chr1	152284999	152284999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaggaaagaccctgaacgtCgagacctttcccctgaccgg	11	13	0	5	rs142483068	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:152284999C>T	uc001ezu.1	-	3	2399	c.2363G>A	c.(2362-2364)CGA>CAA	p.R788Q	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	788	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGAACGTCGAGACCTTTC	0.567									Ichthyosis				T	152284999	C	T	152284999	3	4	16	1	0	0	0	0	1	0	0	0	5922	884	31	1	9826	1	FLG	1	152284999	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	602	152284999	96965622	79	12401											
LCE2C	353140	broad.mit.edu	37	chr1	152648744	152648744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtctcttccaccggcgcCggcaccagagccccgactgc	10	21	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:152648744C>T	uc001fah.2	+	2	308	c.253C>T	c.(253-255)CGG>TGG	p.R85W		NM_178429	NP_848516	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	85	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACCGGCGCCGGCACCAGAG	0.682													T	152648744	C	T	152648744	3	4	16	1	0	0	0	0	1	0	0	0	8667	643	23	1	255	1	LCE2C	1	152648744	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	363745	152648744	96601877	80	12402											
SLC27A3	11000	broad.mit.edu	37	chr1	153749150	153749150	+	Frame_Shift_Del	DEL	C	C	-													agtgccaggatacctctcttCcccccagagcataacagaca							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:153749150delC	uc001fcz.2	+	2	1030	c.965delC	c.(964-966)TCCfs	p.S322fs	SLC27A3_uc009won.2_RNA	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	solute carrier family 27 member 3	322					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			ovary(1)	1	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TACCTCTCTTCCCCCCAGAGC	0.597													-	153749150	C	-	153749150	7	5	16	1	0	1	0	1	0	0	0	0	14527	855	30	0	971	0	SLC27A3	1	153749150	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	1100406	153749150	95501471	81	12403											
SLC39A1	27173	broad.mit.edu	37	chr1	153934781	153934782	+	Frame_Shift_Ins	INS	-	-	C													acaagtggccaaaaagacgcINScccccgcgaaacagcttact							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:153934780_153934781G>GC	uc001fdl.3	-	3	699_700	c.233_234C>GC	c.(232-234)ggcfs	p.G78fs	SLC39A1_uc001fdi.3_Frame_Shift_Ins_p.G78fs|SLC39A1_uc001fdj.3_Frame_Shift_Ins_p.G78fs|SLC39A1_uc001fdk.3_Frame_Shift_Ins_p.G78fs|SLC39A1_uc010pee.2_Intron	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 1 (SLC39A1), mRNA.	78						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		CCAAAAAGACGCCCCCCGCGAA	0.614													C	153934782	-	C	153934781	7	5	16	1	0	1	1	0	0	0	0	0	14612	739	26	0	749	0	SLC39A1	1	153934781	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	185631	153934781	95315840	82	12404											
CREB3L4	148327	broad.mit.edu	37	chr1	153941173	153941174	+	Frame_Shift_Del	DEL	TG	TG	-													agtccggtggggaccgtggcTgtgtgagtgtgacgagtggg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:153941172_153941173CTG>C	uc001fdm.1	+	1	439_440	c.171_172CTG>C	c.(169-174)ggctgtfs	p.G57fs	SLC39A1_uc001fdl.3_5'Flank|CREB3L4_uc001fdn.3_Frame_Shift_Del_p.G57fs|CREB3L4_uc010pef.1_5'UTR|CREB3L4_uc001fdo.3_Intron|CREB3L4_uc010peg.1_Frame_Shift_Del_p.G57fs|CREB3L4_uc001fdr.2_Frame_Shift_Del_p.G57fs|CREB3L4_uc001fdq.2_Intron	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 4 (CREB3L4), transcript variant 1, mRNA.	57					response to unfolded protein	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGACCGTGGCTGTGTGAGTGT	0.599													-	153941174	TG	-	153941173	7	5	16	1	0	1	0	1	0	0	0	0	3859	1580	55	0	174	0	CREB3L4	1	153941173	Frame_Shift_Del	DEL	TG	TCGA-BR-4292-01A-01D-1126-08	6392	153941173	95309448	83	12405											
UBAP2L	9898	broad.mit.edu	37	chr1	154229634	154229634	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcacctcccccagtggtcagTgtctcctccagtctcaatag	8	16	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:154229634T>A	uc001fep.3	+	19	2420	c.2253T>A	c.(2251-2253)AGT>AGA	p.S751R	UBAP2L_uc009wot.2_Missense_Mutation_p.S751R|UBAP2L_uc010pek.1_Missense_Mutation_p.S743R|UBAP2L_uc010pel.1_Missense_Mutation_p.S761R|UBAP2L_uc010pen.1_Missense_Mutation_p.S665R|UBAP2L_uc001feq.2_5'UTR|UBAP2L_uc001fer.2_5'UTR	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	751					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGTGGTCAGTGTCTCCTCCA	0.552													A	154229634	T	A	154229634	3	1	16	1	0	0	0	0	1	0	0	0	16835	1693	59	5	2323	5	UBAP2L	1	154229634	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	288461	154229634	95020987	84	12406											
ADAR	103	broad.mit.edu	37	chr1	154557387	154557387	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtagttcttggccgtctcGtagtcacgggcagctttctt	11	10	4	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:154557387G>A	uc001ffh.2	-	15	3776	c.3576C>T	c.(3574-3576)TAC>TAT	p.Y1192Y	ADAR_uc001ffj.2_Silent_p.Y1147Y|ADAR_uc001ffi.2_Silent_p.Y1166Y|ADAR_uc001ffk.2_Silent_p.Y897Y	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	1192	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGCCGTCTCGTAGTCACGGG	0.473													A	154557387	G	A	154557387	2	1	16	1	0	0	0	0	0	0	0	1	281	1140	40	1		1	ADAR	1	154557387	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	327753	154557387	94693234	85	12407											
HCN3	57657	broad.mit.edu	37	chr1	155252423	155252423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgcgggccatccgcacgcGctacctgcgcacctggttcc	11	19	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:155252423G>A	uc001fjz.1	+	2	508	c.500G>A	c.(499-501)CGC>CAC	p.R167H	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_5'UTR	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	167	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ATCCGCACGCGCTACCTGCGC	0.587													A	155252423	G	A	155252423	3	1	16	1	0	0	0	0	1	0	0	0	6998	1087	38	1	506	1	HCN3	1	155252423	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	695036	155252423	93998198	86	12408											
LMNA	4000	broad.mit.edu	37	chr1	156108451	156108451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagtgtcacggtcactcGcagctaccgcagtgtggggg	14	13	2	0	rs13768		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:156108451G>A	uc001fni.2	+	11	2120	c.1871G>A	c.(1870-1872)CGC>CAC	p.R624H	LMNA_uc001fnf.1_3'UTR|LMNA_uc001fnh.2_Missense_Mutation_p.R594H|LMNA_uc009wro.1_Intron|LMNA_uc001fnj.2_3'UTR|LMNA_uc001fnk.2_Missense_Mutation_p.R525H|LMNA_uc010pha.1_3'UTR|LMNA_uc010phb.1_RNA	NM_170707	NP_733821	P02545	LMNA_HUMAN	lamin A/C isoform 1 precursor	624	Tail.		R -> H (in EDMD2).		cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity|structural molecule activity			ovary(2)	2	Hepatocellular(266;0.158)					ACGGTCACTCGCAGCTACCGC	0.677									Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome				A	156108451	G	A	156108451	3	1	16	1	0	0	0	0	1	0	0	0	8848	1087	38	1	1934	1	LMNA	1	156108451	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	856028	156108451	93142170	87	12409											
CCT3	7203	broad.mit.edu	37	chr1	156303398	156303398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcctgggtccggctaatttCgatcatggacttggccgctg	12	11	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:156303398C>T	uc001fol.1	-	5	464	c.244G>A	c.(244-246)GAA>AAA	p.E82K	CCT3_uc001fom.1_Missense_Mutation_p.E82K|CCT3_uc001fon.1_Missense_Mutation_p.E44K|CCT3_uc010phj.1_Missense_Mutation_p.E36K|CCT3_uc010phk.1_Missense_Mutation_p.E36K|CCT3_uc010phl.1_Missense_Mutation_p.E36K	NM_005998	NP_005989	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 isoform a	82					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					CGGCTAATTTCGATCATGGAC	0.423													T	156303398	C	T	156303398	3	4	16	1	0	0	0	0	1	0	0	0	2954	893	31	1	1433	1	CCT3	1	156303398	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	194947	156303398	92947223	88	12410											
PEAR1	375033	broad.mit.edu	37	chr1	156883740	156883740	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgcccagcttgccaggggGcccccgggagagcagctaca	14	16	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:156883740G>C	uc001fqj.1	+	22	2926	c.2810G>C	c.(2809-2811)GGC>GCC	p.G937A	PEAR1_uc001fqk.1_Missense_Mutation_p.G562A	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	937	Pro-rich.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTGCCAGGGGGCCCCCGGGAG	0.647													C	156883740	G	C	156883740	3	2	16	1	0	0	0	0	1	0	0	0	11712	1203	42	5	2892	5	PEAR1	1	156883740	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	580342	156883740	92366881	89	12411											
OR10T2	128360	broad.mit.edu	37	chr1	158368816	158368816	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacctgtggctcctgagagAgaaatcaactccaaccccag	8	13	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:158368816A>C	uc010pih.1	-	1	441	c.441T>G	c.(439-441)TCT>TCG	p.S147S		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T,	147	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					CTCCTGAGAGAGAAATCAACT	0.458													C	158368816	A	C	158368816	2	2	16	1	0	0	0	0	0	0	0	1	10919	291	11	5		5	OR10T2	1	158368816	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	1485076	158368816	90881805	90	12412											
SPTA1	6708	broad.mit.edu	37	chr1	158621239	158621239	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttgatatcccttagccgaGgctcattggtattcaaatcc	8	10	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:158621239G>T	uc001fst.1	-	24	3594	c.3395C>A	c.(3394-3396)CCT>CAT	p.P1132H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1132	Spectrin 11.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CCTTAGCCGAGGCTCATTGGT	0.423													T	158621239	G	T	158621239	3	4	16	1	0	0	0	0	1	0	0	0	15115	1000	35	5	3980	5	SPTA1	1	158621239	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	252423	158621239	90629382	91	12413											
SLAMF8	56833	broad.mit.edu	37	chr1	159799702	159799702	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccaagtgctgagcaaagtCgggggctcggtgctgctggt	17	10	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:159799702C>T	uc001fue.3	+	2	297	c.87C>T	c.(85-87)GTC>GTT	p.V29V		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	SLAM family member 8 precursor	29	Extracellular (Potential).					integral to membrane					0	all_hematologic(112;0.0597)					TGAGCAAAGTCGGGGGCTCGG	0.602													T	159799702	C	T	159799702	2	4	16	1	0	0	0	0	0	0	0	1	14370	871	31	1		1	SLAMF8	1	159799702	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1178463	159799702	89450919	92	12414											
USP21	27005	broad.mit.edu	37	chr1	161134660	161134660	+	Frame_Shift_Del	DEL	A	A	-													ctgcctcccgaggctccatcAaaaaaagttcagtaggtgta							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:161134659_161134659CA>C	uc010pkc.2	+	11	1796	c.1419_1419CA>C	c.(1417-1419)atcfs	p.I473fs	USP21_uc010pkd.2_Frame_Shift_Del_p.I473fs|USP21_uc021pbv.1_Non-coding_Transcript|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc001fyi.2_5'Flank|PPOX_uc010pkh.1_5'Flank	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	473					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GAGGCTCCATCAAAAAAAGTT	0.517													-	161134660	A	-	161134660	7	5	16	1	0	1	0	1	0	0	0	0	17050	131	5	0	1458	0	USP21	1	161134660	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	1334958	161134660	88115961	93	12415											
HSD17B7	51478	broad.mit.edu	37	chr1	162762614	162762614	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtggatgtcagcaacctGcagtcggtcttccgggcctc	13	13	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:162762614G>A	uc001gci.2	+	2	296	c.201G>A	c.(199-201)CTG>CTA	p.L67L	HSD17B7_uc009wuv.2_RNA	NM_016371	NP_057455	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	67	Extracellular (Potential).				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			ovary(1)	1	all_hematologic(112;0.115)				NADH(DB00157)	TCAGCAACCTGCAGTCGGTCT	0.493													A	162762614	G	A	162762614	2	1	16	1	0	0	0	0	0	0	0	1	7388	1306	46	2		2	HSD17B7	1	162762614	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1627954	162762614	86488007	94	12416											
ILDR2	387597	broad.mit.edu	37	chr1	166890564	166890564	+	Frame_Shift_Del	DEL	C	C	-													gtccatggaaacggccggcaCccccgtggcgaagttcttcc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:166890564delC	uc001gdx.1	-	9	1320	c.1264delG	c.(1264-1266)GTGfs	p.V422fs		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	422	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1						ACGGCCGGCACCCCCGTGGCG	0.721													-	166890564	C	-	166890564	7	5	16	1	0	1	0	1	0	0	0	0	7710	507	18	0	663	0	ILDR2	1	166890564	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	4127950	166890564	82360057	95	12417											
ADCY10	55811	broad.mit.edu	37	chr1	167863166	167863167	+	Frame_Shift_Ins	INS	-	-	AA													caggcttcagcgtgcatgcaINSagcctcaggaggtctaagaa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:167863165_167863166C>CAA	uc001ger.3	-	7	1051_1052	c.753_754G>TTG	c.(751-756)cttgcafs	p.L251fs	ADCY10_uc010plj.2_Frame_Shift_Ins_p.L98fs|ADCY10_uc009wvk.3_Frame_Shift_Ins_p.L159fs|ADCY10_uc009wvl.3_Frame_Shift_Ins_p.L250fs|ADCY10_uc009wvm.2_Non-coding_Transcript	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	251					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGCGTGCATGCAAGCCTCAGGA	0.49													AA	167863167	-	AA	167863166	7	5	16	1	0	1	1	0	0	0	0	0	293	117	5	0	4183	0	ADCY10	1	167863166	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	972602	167863166	81387455	96	12418											
ADCY10	55811	broad.mit.edu	37	chr1	167870995	167870995	+	Frame_Shift_Del	DEL	T	T	-													taattaccactgtgataatgTttttcagctgctttcgctcc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:167870994_167870994GT>G	uc001ger.3	-	4	640	c.342_342AC>C	c.(340-342)aacfs	p.N114fs	ADCY10_uc010plj.2_Intron|ADCY10_uc009wvk.3_Frame_Shift_Del_p.N22fs|ADCY10_uc009wvl.3_Frame_Shift_Del_p.N113fs|ADCY10_uc009wvm.2_Intron	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	114	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTGTGATAATGTTTTTCAGCT	0.507													-	167870995	T	-	167870995	7	5	16	1	0	1	0	1	0	0	0	0	293	1725	60	0	4607	0	ADCY10	1	167870995	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	7829	167870995	81379626	97	12419											
ATP1B1	481	broad.mit.edu	37	chr1	169100579	169100579	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggagtattttggactggGcaactcccctggttttcctc	11	10	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:169100579G>A	uc001gfs.1	+	6		c.823G>A						P05026	AT1B1_HUMAN	Synthetic construct DNA, clone: pF1KB8186, Homo sapiens ATP1B1 gene for ATPase, Na+/K+ transporting, beta 1 polypeptide, without stop codon, in Flexi system.						ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	all_hematologic(923;0.208)					TTTGGACTGGGCAACTCCCCT	0.443													A	169100579	G	A	169100579	1	1	16	0	1	0	0	0	0	0	0	0	1132	1203	42	2		2	ATP1B1	1	169100579	RNA	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1229584	169100579	80150042	98	12420											
RC3H1	149041	broad.mit.edu	37	chr1	173912741	173912741	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccctctgcaacaccagccTgttactaacagcctagtgca	6	16	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:173912741T>G	uc001gju.3	-	17	3061	c.2974A>C	c.(2974-2976)AGG>CGG	p.R992R	RC3H1_uc010pms.1_Intron|RC3H1_uc001gjv.2_Intron|RC3H1_uc010pmt.1_Silent_p.R992R	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	992					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						AACACCAGCCTGTTACTAACA	0.532													G	173912741	T	G	173912741	2	3	16	1	0	0	0	0	0	0	0	1	13166	1579	55	5		5	RC3H1	1	173912741	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	4812162	173912741	75337880	99	12421											
RC3H1	149041	broad.mit.edu	37	chr1	173953746	173953746	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacacaaagtaataggctgCtgctcagggacctggaggcc	12	11	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:173953746C>T	uc001gju.3	-	2	330	c.243G>A	c.(241-243)CAG>CAA	p.Q81Q	RC3H1_uc010pms.1_Silent_p.Q81Q|RC3H1_uc001gjv.2_Silent_p.Q81Q|RC3H1_uc010pmt.1_Silent_p.Q81Q	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	81					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TAATAGGCTGCTGCTCAGGGA	0.388													T	173953746	C	T	173953746	2	4	16	1	0	0	0	0	0	0	0	1	13166	796	28	2		2	RC3H1	1	173953746	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	41005	173953746	75296875	100	12422											
XPR1	9213	broad.mit.edu	37	chr1	180775653	180775653	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatggtgacagacaaaaggCtatgaagcgtttacgtgtcc	12	7	0	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:180775653C>A	uc001goi.2	+	6	833	c.641C>A	c.(640-642)GCT>GAT	p.A214D	XPR1_uc009wxm.2_Missense_Mutation_p.A214D|XPR1_uc009wxn.2_Missense_Mutation_p.A214D	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor	214	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0						AGACAAAAGGCTATGAAGCGT	0.383													A	180775653	C	A	180775653	3	1	16	1	0	0	0	0	1	0	0	0	17448	797	28	5	663	5	XPR1	1	180775653	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	6821907	180775653	68474968	101	12423											
ZNF648	127665	broad.mit.edu	37	chr1	182026636	182026636	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcacagagatactttccAttgctggggaagctgggtgg	15	8	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:182026636A>G	uc001goz.2	-	2	718	c.510T>C	c.(508-510)AAT>AAC	p.N170N		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GATACTTTCCATTGCTGGGGA	0.577													G	182026636	A	G	182026636	2	3	16	1	0	0	0	0	0	0	0	1	18060	214	8	3		3	ZNF648	1	182026636	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	1250983	182026636	67223985	102	12424											
C1orf21	81563	broad.mit.edu	37	chr1	184446659	184446659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactatgggctgtgcctccGccaagcatgttgccactgtt	11	12	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:184446659G>A	uc001gqv.1	+	2	493	c.16G>A	c.(16-18)GCC>ACC	p.A6T		NM_030806	NP_110433	Q9H246	CA021_HUMAN	chromosome 1 open reading frame 21	6											0		Breast(1374;0.00262)		Colorectal(1306;4.8e-08)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)		CTGTGCCTCCGCCAAGCATGT	0.463													A	184446659	G	A	184446659	3	1	16	1	0	0	0	0	1	0	0	0	2028	1087	38	1	18	1	C1orf21	1	184446659	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2420023	184446659	64803962	103	12425											
TPR	7175	broad.mit.edu	37	chr1	186313658	186313658	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcttcaacatcagcagcaTgcagcatcaattctctctca	6	13	5	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:186313658T>C	uc001grv.2	-	25	3563	c.3266A>G	c.(3265-3267)CAT>CGT	p.H1089R		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1089	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ATCAGCAGCATGCAGCATCAA	0.383			T	NTRK1	papillary thyroid								C	186313658	T	C	186313658	3	2	16	1	0	0	0	0	1	0	0	0	16413	1464	51	3	3933	3	TPR	1	186313658	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	1866999	186313658	62936963	104	12426											
PTGS2	5743	broad.mit.edu	37	chr1	186645044	186645044	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttaccctgccagcaatttGcctggtgaatgattcaacaa	8	11	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:186645044G>A	uc001gsb.2	-	8	1380	c.1243C>T	c.(1243-1245)CAA>TAA	p.Q415*	PTGS2_uc009wyo.2_Nonsense_Mutation_p.Q262*	NM_000963	NP_000954	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 precursor	415					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|central_nervous_system(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	CCAGCAATTTGCCTGGTGAAT	0.333													A	186645044	G	A	186645044	4	1	16	1	0	0	0	0	0	1	0	0	12756	1328	46	2	583	2	PTGS2	1	186645044	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	331386	186645044	62605577	105	12427											
FAM5C	339479	broad.mit.edu	37	chr1	190067583	190067583	+	Frame_Shift_Del	DEL	A	A	-													aggtagatgtgtactgtctcAaaaaatgtcttccatttgtt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:190067582_190067582CA>C	uc001gse.1	-	7	2099	c.1867_1867TG>G	c.(1867-1869)gagfs	p.E623fs	FAM5C_uc010pot.1_Frame_Shift_Del_p.E521fs	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	623						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGTACTGTCTCAAAAAATGTC	0.448													-	190067583	A	-	190067583	7	5	16	1	0	1	0	1	0	0	0	0	5594	127	5	0	438	0	FAM5C	1	190067583	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	3422539	190067583	59183038	106	12428											
RGS2	5997	broad.mit.edu	37	chr1	192780201	192780201	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgaagacttcaaaaaaaCcaaatcaccccaaaagctgt	5	11	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:192780201C>A	uc001gsl.2	+	4	398	c.365C>A	c.(364-366)ACC>AAC	p.T122N		NM_002923	NP_002914	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	122	RGS.				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity				0						TTCAAAAAAACCAAATCACCC	0.393													A	192780201	C	A	192780201	3	1	16	1	0	0	0	0	1	0	0	0	13302	507	18	5	379	5	RGS2	1	192780201	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2712618	192780201	56470420	107	12429											
B3GALT2	8707	broad.mit.edu	37	chr1	193149443	193149443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaatgtagtttacggtggCgatacctgcctgccttttct	9	10	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:193149443C>T	uc001gtc.3	-	2	1965	c.1250G>A	c.(1249-1251)CGC>CAC	p.R417H	CDC73_uc001gtb.2_Intron	NM_003783	NP_003774	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta	417	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)	1						TTTACGGTGGCGATACCTGCC	0.368													T	193149443	C	T	193149443	3	4	16	1	0	0	0	0	1	0	0	0	1248	768	27	1	22	1	B3GALT2	1	193149443	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	369242	193149443	56101178	108	12430											
F13B	2165	broad.mit.edu	37	chr1	197031010	197031010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggttttgtaccctgaagCgcaaccataacgcatgttct	9	10	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:197031010C>T	uc001gtt.1	-	3	399	c.355G>A	c.(355-357)GCT>ACT	p.A119T		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	119	Sushi 2.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TACCCTGAAGCGCAACCATAA	0.403													T	197031010	C	T	197031010	3	4	16	1	0	0	0	0	1	0	0	0	5341	768	27	1	1670	1	F13B	1	197031010	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3881567	197031010	52219611	109	12431											
DENND1B	163486	broad.mit.edu	37	chr1	197480898	197480898	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catccattgatctaaagaaaTccaagctctttgcagctgcc	6	12	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:197480898T>A	uc010ppe.1	-	21	2053	c.1715A>T	c.(1714-1716)GAT>GTT	p.D572V	DENND1B_uc010ppf.1_RNA	NM_001142795	NP_001136267	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B isoform 1	Error:Variant_position_missing_in_Q6P3S1_after_alignment						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0						TCTAAAGAAATCCAAGCTCTT	0.378													A	197480898	T	A	197480898	3	1	16	1	0	0	0	0	1	0	0	0	4427	1435	50	5	560	5	DENND1B	1	197480898	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	449888	197480898	51769723	110	12432											
KIF21B	23046	broad.mit.edu	37	chr1	200974489	200974489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtggatggtgaagatggCgtgggagcgtgagctctgca	19	6	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:200974489C>T	uc001gvs.1	-	5	996	c.679G>A	c.(679-681)GCC>ACC	p.A227T	KIF21B_uc001gvr.1_Missense_Mutation_p.A227T|KIF21B_uc009wzl.1_Missense_Mutation_p.A227T|KIF21B_uc010ppn.1_Missense_Mutation_p.A227T|KIF21B_uc001gvt.1_Missense_Mutation_p.A10T	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	227	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						GTGAAGATGGCGTGGGAGCGT	0.637													T	200974489	C	T	200974489	3	4	16	1	0	0	0	0	1	0	0	0	8289	768	27	1	4315	1	KIF21B	1	200974489	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3493591	200974489	48276132	111	12433											
PKP1	5317	broad.mit.edu	37	chr1	201289420	201289420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctcggccgatgcaggcCgccagaccatgcgtaactac	12	14	0	2	rs146785756		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:201289420C>T	uc001gwd.2	+	8	1572	c.1321C>T	c.(1321-1323)CGC>TGC	p.R441C	PKP1_uc001gwe.2_Missense_Mutation_p.R420C|PKP1_uc009wzm.2_Missense_Mutation_p.R28C	NM_000299	NP_000290	Q13835	PKP1_HUMAN	plakophilin 1 isoform 1b	441	ARM 5.				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			ovary(2)	2						CGATGCAGGCCGCCAGACCAT	0.373													T	201289420	C	T	201289420	3	4	16	1	0	0	0	0	1	0	0	0	11984	652	23	1	1351	1	PKP1	1	201289420	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	314931	201289420	47961201	112	12434											
PPFIA4	8497	broad.mit.edu	37	chr1	203040880	203040880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgggcacagaccggaagCtggatgacgtgagtacctgg	15	10	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:203040880C>T	uc001gyz.2	+	15	2460	c.1867C>T	c.(1867-1869)CTG>TTG	p.L623L	PPFIA4_uc009xaj.2_Silent_p.L1254L|PPFIA4_uc010pqf.1_Silent_p.L836L|PPFIA4_uc001gza.2_Silent_p.L614L|PPFIA4_uc001gzb.1_Silent_p.L309L|PPFIA4_uc001gzc.1_Silent_p.L165L	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	623					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						AGACCGGAAGCTGGATGACGT	0.527													T	203040880	C	T	203040880	2	4	16	1	0	0	0	0	0	0	0	1	12312	796	28	2		2	PPFIA4	1	203040880	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1751460	203040880	46209741	113	12435											
ADORA1	134	broad.mit.edu	37	chr1	203098074	203098074	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgatctgggcggtgaaGgtgaaccaggcgctgcggga	19	8	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:203098074G>T	uc001gze.1	+	3	538	c.105G>T	c.(103-105)AAG>AAT	p.K35N	ADORA1_uc001gzf.1_Missense_Mutation_p.K35N|ADORA1_uc010pqg.1_Translation_Start_Site|ADORA1_uc009xak.1_Translation_Start_Site|ADORA1_uc010pqh.1_Missense_Mutation_p.K68N	NM_000674	NP_000665	P30542	AA1R_HUMAN	adenosine A1 receptor	35	Cytoplasmic (Potential).				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				large_intestine(1)	1					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GGGCGGTGAAGGTGAACCAGG	0.652													T	203098074	G	T	203098074	3	4	16	1	0	0	0	0	1	0	0	0	326	991	35	5	107	5	ADORA1	1	203098074	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	57194	203098074	46152547	114	12436											
GOLT1A	127845	broad.mit.edu	37	chr1	204170836	204170836	+	Frame_Shift_Del	DEL	C	C	-													gtaggagcacgataaccacaCcccccaggaggaagctggtt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:204170835_204170835AC>A	uc001has.1	-	2	408	c.222_222GT>T	c.(220-222)ggtfs	p.G74fs	GOLT1A_uc001hat.1_Frame_Shift_Del_p.G74fs	NM_198447	NP_940849	Q6ZVE7	GOT1A_HUMAN	Homo sapiens golgi transport 1A (GOLT1A), mRNA.	74					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CGATAACCACACCCCCCAGGA	0.542													-	204170836	C	-	204170836	7	5	16	1	0	1	0	1	0	0	0	0	6570	507	18	0	189	0	GOLT1A	1	204170836	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	1072762	204170836	45079785	115	12437											
SRGAP2	23380	broad.mit.edu	37	chr1	206516357	206516357	+	Frame_Shift_Del	DEL	A	A	-													aggactcaggaagactctttAaaaaggtacagagatatttc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:206516356_206516356TA>T	uc001hdy.3	+	0	157	c.156_156TA>T	c.(154-156)tttfs	p.F52fs	SRGAP2_uc009xbt.3_5'UTR|SRGAP2_uc010prt.1_5'UTR|SRGAP2_uc001hdx.3_Frame_Shift_Del_p.F52fs|SRGAP2_uc010pru.2_Frame_Shift_Del_p.F52fs	NM_015326	NP_056141	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 1, mRNA.	139	FCH.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GAAGACTCTTTAAAAAGGTAC	0.408													-	206516357	A	-	206516357	7	5	16	1	0	1	0	1	0	0	0	0	15145	369	13	0	160	0	SRGAP2	1	206516357	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	2345521	206516357	42734264	116	12438											
DYRK3	8444	broad.mit.edu	37	chr1	206820772	206820772	+	Frame_Shift_Del	DEL	T	T	-													caggagatcatactcagcacTttttggatggaggtgagatg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:206820771_206820771CT>C	uc001hej.3	+	2	396	c.228_228CT>C	c.(226-228)cacfs	p.H76fs	DYRK3_uc001hek.3_Intron|DYRK3_uc001hei.3_Frame_Shift_Del_p.H56fs	NM_003582	NP_003573	O43781	DYRK3_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 (DYRK3), transcript variant 1, mRNA.	76					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			ATACTCAGCACTTTTTGGATG	0.373													-	206820772	T	-	206820772	7	5	16	1	0	1	0	1	0	0	0	0	4857	1609	56	0	260	0	DYRK3	1	206820772	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	304415	206820772	42429849	117	12439											
LAMB3	3914	broad.mit.edu	37	chr1	209811925	209811925	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccggaggatgaagccacAttctctactcggtgactgta	13	10	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:209811925A>G	uc001hhg.2	-	3	642	c.252T>C	c.(250-252)AAT>AAC	p.N84N	LAMB3_uc009xco.2_Silent_p.N84N|LAMB3_uc001hhh.2_Silent_p.N84N|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Silent_p.N84N	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	84	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ATGAAGCCACATTCTCTACTC	0.532													G	209811925	A	G	209811925	2	3	16	1	0	0	0	0	0	0	0	1	8612	214	8	3		3	LAMB3	1	209811925	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	2991153	209811925	39438696	118	12440											
SERTAD4	56256	broad.mit.edu	37	chr1	210415509	210415509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggtggccccctcagccacGaacctgtgggaaatgacctt	11	13	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:210415509G>A	uc001hhy.2	+	4	1077	c.898G>A	c.(898-900)GAA>AAA	p.E300K	SERTAD4_uc009xcw.2_Missense_Mutation_p.E300K	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	300							protein binding			ovary(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		CCTCAGCCACGAACCTGTGGG	0.398													A	210415509	G	A	210415509	3	1	16	1	0	0	0	0	1	0	0	0	14123	1059	37	1	908	1	SERTAD4	1	210415509	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	603584	210415509	38835112	119	12441											
GPATCH2	55105	broad.mit.edu	37	chr1	217793680	217793680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcacattatacgacctcCgttttctccctctccttttc	4	15	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:217793680C>T	uc001hlf.1	-	2	314	c.218G>A	c.(217-219)CGG>CAG	p.R73Q	GPATCH2_uc001hlg.3_Missense_Mutation_p.R73Q	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	73						intracellular	nucleic acid binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		ATACGACCTCCGTTTTCTCCC	0.473													T	217793680	C	T	217793680	3	4	16	1	0	0	0	0	1	0	0	0	6591	652	23	1	1404	1	GPATCH2	1	217793680	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	7378171	217793680	31456941	120	12442											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220369638	220369638	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggattggaccctacagtgAtatactgagacatggcaggt	12	7	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:220369638A>G	uc010puk.1	-	10	1078	c.914T>C	c.(913-915)ATC>ACC	p.I305T	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_5'UTR	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	305					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)		CCCTACAGTGATATACTGAGA	0.378													G	220369638	A	G	220369638	3	3	16	1	0	0	0	0	1	0	0	0	12936	333	12	3	3371	3	RAB3GAP2	1	220369638	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	2575958	220369638	28880983	121	12443											
LBR	3930	broad.mit.edu	37	chr1	225594521	225594521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggatgatgtccatggtcGtcaacaacgcttcctataag	10	10	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:225594521G>A	uc001hoy.2	-	11	1471	c.1328C>T	c.(1327-1329)ACG>ATG	p.T443M	LBR_uc001hoz.2_Missense_Mutation_p.T443M|LBR_uc001hpa.1_Missense_Mutation_p.T443M	NM_002296	NP_002287	Q14739	LBR_HUMAN	lamin B receptor	443					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			ovary(1)|skin(1)	2	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GTCCATGGTCGTCAACAACGC	0.408													A	225594521	G	A	225594521	3	1	16	1	0	0	0	0	1	0	0	0	8652	1145	40	1	535	1	LBR	1	225594521	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	5224883	225594521	23656100	122	12444											
RAB4A	5867	broad.mit.edu	37	chr1	229422273	229422273	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttattggaaatgcaggaacTggcaaatcttgcttacttca	9	7	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:229422273T>C	uc001hth.2	+	2	280	c.72T>C	c.(70-72)ACT>ACC	p.T24T	RAB4A_uc001hti.2_RNA|RAB4A_uc001htj.2_Intron	NM_004578	NP_004569	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	19	GTP.						GDP binding|GTP binding|GTPase activity			ovary(1)	1	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				ATGCAGGAACTGGCAAATCTT	0.333													C	229422273	T	C	229422273	2	2	16	1	0	0	0	0	0	0	0	1	12946	1567	55	3		3	RAB4A	1	229422273	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	3827752	229422273	19828348	123	12445											
ABCB10	23456	broad.mit.edu	37	chr1	229667403	229667403	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgttaaaaggcagcttgggcTctctctccaggagctcccag	11	13	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:229667403T>G	uc001htp.3	-	7	1458	c.1415A>C	c.(1414-1416)GAG>GCG	p.E472A		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	472	Mitochondrial intermembrane (Potential).|Mitochondrial matrix (Potential).					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CAGCTTGGGCTCTCTCTCCAG	0.512													G	229667403	T	G	229667403	3	3	16	1	0	0	0	0	1	0	0	0	41	1551	54	5	829	5	ABCB10	1	229667403	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	245130	229667403	19583218	124	12446											
URB2	9816	broad.mit.edu	37	chr1	229772399	229772399	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttagaacagctgtacctgcAgaaaatgaaaaggactttaa	8	7	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:229772399A>C	uc001hts.1	+	4	2175	c.2039A>C	c.(2038-2040)CAG>CCG	p.Q680P	URB2_uc009xfd.1_Missense_Mutation_p.Q680P	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	680						nucleolus				central_nervous_system(2)|ovary(1)	3						CTGTACCTGCAGAAAATGAAA	0.423													C	229772399	A	C	229772399	3	2	16	1	0	0	0	0	1	0	0	0	17022	188	7	5	2049	5	URB2	1	229772399	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	104996	229772399	19478222	125	12447											
KIAA1383	54627	broad.mit.edu	37	chr1	232943122	232943123	+	Frame_Shift_Ins	INS	-	-	A													gggaggaaatgtggaaatgaINSaaatccaaagtccatgtgtt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:232943121_232943122G>GA	uc001hvh.2	+	0	2484_2485	c.2352_2353G>GA	c.(2350-2355)atgaaafs	p.M784fs		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	642	Ser-rich.									breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				ATGTGGAAATGAAAATCCAAAG	0.361													A	232943123	-	A	232943122	7	5	16	1	0	1	1	0	0	0	0	0	8228	247	9	0	2355	0	KIAA1383	1	232943122	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	3170723	232943122	16307499	126	12448											
NID1	4811	broad.mit.edu	37	chr1	236142400	236142400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagatcgagagcaaccaCggaattcctacaaagcacca	8	12	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:236142400C>T	uc001hxo.2	-	19	3619	c.3517G>A	c.(3517-3519)GTG>ATG	p.V1173M	NID1_uc009xgd.2_Missense_Mutation_p.V1040M|NID1_uc009xgc.2_Missense_Mutation_p.V254M	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	1173					cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AGAGCAACCACGGAATTCCTA	0.488													T	236142400	C	T	236142400	3	4	16	1	0	0	0	0	1	0	0	0	10414	536	19	1	234	1	NID1	1	236142400	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3199278	236142400	13108221	127	12449											
NID1	4811	broad.mit.edu	37	chr1	236154336	236154336	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accgcaggtccttggtgaatCgggggagccactgtactcag	14	11	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:236154336C>T	uc001hxo.2	-	14	2880	c.2778G>A	c.(2776-2778)CCG>CCA	p.P926P	NID1_uc009xgd.2_Silent_p.P793P|NID1_uc009xgc.2_Silent_p.P12P	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	926					cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CTTGGTGAATCGGGGGAGCCA	0.532													T	236154336	C	T	236154336	2	4	16	1	0	0	0	0	0	0	0	1	10414	871	31	1		1	NID1	1	236154336	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	11936	236154336	13096285	128	12450											
ZP4	57829	broad.mit.edu	37	chr1	238048857	238048857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgggtagtcaccaacacCgtagtaagagccatagtttt	9	10	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:238048857C>T	uc001hym.2	-	8	994	c.994G>A	c.(994-996)GGT>AGT	p.G332S	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	332	ZP.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCACCAACACCGTAGTAAGAG	0.483													T	238048857	C	T	238048857	3	4	16	1	0	0	0	0	1	0	0	0	18215	652	23	1	648	1	ZP4	1	238048857	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1894521	238048857	11201764	129	12451											
EXO1	9156	broad.mit.edu	37	chr1	242045292	242045292	+	Frame_Shift_Del	DEL	A	A	-													ctacgtttatctcatttctcAaaaaaagacacacctctaag							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:242045291_242045291CA>C	uc021plj.1	+	11	2497	c.2183_2183CA>C	c.(2182-2184)tcafs	p.S728fs	EXO1_uc001hzh.3_Frame_Shift_Del_p.S728fs|EXO1_uc009xgq.3_Frame_Shift_Del_p.S727fs|EXO1_uc021plk.1_Frame_Shift_Del_p.S728fs	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	728	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TCTCATTTCTCAAAAAAAGAC	0.318								Editing and processing nucleases					-	242045292	A	-	242045292	7	5	16	1	0	1	0	1	0	0	0	0	5300	117	5	0	2226	0	EXO1	1	242045292	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	3996435	242045292	7205329	130	12452											
KIF26B	55083	broad.mit.edu	37	chr1	245849621	245849621	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcgagcaaggattccggCgtggcgtctagggagtcctt	14	12	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:245849621C>T	uc001ibf.1	+	12	3776	c.3336C>T	c.(3334-3336)GGC>GGT	p.G1112G	KIF26B_uc001ibg.1_Silent_p.G730G|KIF26B_uc001ibh.1_Silent_p.G354G	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1112					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGGATTCCGGCGTGGCGTCTA	0.617													T	245849621	C	T	245849621	2	4	16	1	0	0	0	0	0	0	0	1	8295	755	27	1		1	KIF26B	1	245849621	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3804329	245849621	3401000	131	12453											
OR13G1	441933	broad.mit.edu	37	chr1	247836183	247836183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggaaaacatacatgggcGtatgcaaggtgttgttatag	13	4	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:247836183G>A	uc001idi.1	-	1	161	c.161C>T	c.(160-162)ACG>ATG	p.T54M		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	54	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATACATGGGCGTATGCAAGGT	0.423													A	247836183	G	A	247836183	3	1	16	1	0	0	0	0	1	0	0	0	10942	1145	40	1	766	1	OR13G1	1	247836183	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1986562	247836183	1414438	132	12454											
OR2T8	343172	broad.mit.edu	37	chr1	248084867	248084867	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgagacccccgtgctggTgcgtttggcttgtgctgaca	14	12	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:248084867T>C	uc010pzc.1	+	1	548	c.548T>C	c.(547-549)GTG>GCG	p.V183A		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T,	183	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCCGTGCTGGTGCGTTTGGCT	0.552													C	248084867	T	C	248084867	3	2	16	1	0	0	0	0	1	0	0	0	11030	1696	59	3	550	3	OR2T8	1	248084867	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	248684	248084867	1165754	133	12455											
OR14I1	401994	broad.mit.edu	37	chr1	248845531	248845531	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagcagaaacagcccggcGtgcagcacctgcagctccca	10	16	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:248845531G>A	uc001ieu.1	-	1	75	c.75C>T	c.(73-75)CAC>CAT	p.H25H		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I,	25	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ACAGCCCGGCGTGCAGCACCT	0.493													A	248845531	G	A	248845531	2	1	16	1	0	0	0	0	0	0	0	1	10947	1136	40	1		1	OR14I1	1	248845531	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	760664	248845531	405090	134	12456											
ZNF692	55657	broad.mit.edu	37	chr1	249149812	249149812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccaggccggggttggagCagactgggcctgactcccag	15	13	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr1:249149812C>T	uc001ifc.1	-	8	1071	c.904G>A	c.(904-906)GCT>ACT	p.A302T	ZNF692_uc001iez.1_Missense_Mutation_p.A24T|ZNF692_uc001ifa.1_Missense_Mutation_p.A24T|ZNF692_uc001ifb.1_Missense_Mutation_p.A98T|ZNF692_uc001ifd.1_Missense_Mutation_p.A301T|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Missense_Mutation_p.A257T|ZNF692_uc010pzr.1_Missense_Mutation_p.A307T	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	zinc finger protein 692 isoform 2	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGGGTTGGAGCAGACTGGGCC	0.632													T	249149812	C	T	249149812	3	4	16	1	0	0	0	0	1	0	0	0	18094	710	25	2	675	2	ZNF692	1	249149812	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	304281	249149812	100809	135	12457											
TPO	7173	broad.mit.edu	37	chr2	1459959	1459959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatacatcgaccacgacatcGcgttcacaccacagagcacc	6	16	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:1459959G>A	uc002qww.2	+	7	815	c.724G>A	c.(724-726)GCG>ACG	p.A242T	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.A242T|TPO_uc002qwr.2_Missense_Mutation_p.A242T|TPO_uc002qwx.2_Missense_Mutation_p.A242T|TPO_uc010yio.1_Missense_Mutation_p.A242T|TPO_uc010yip.1_Missense_Mutation_p.A242T	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	242	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.A242A(1)		ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCACGACATCGCGTTCACACC	0.498													A	1459959	G	A	1459959	3	1	16	1	0	0	0	0	1	0	0	0	16407	1087	38	1	746	1	TPO	2	1459959	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08		1459959	241739414	136	12458											
MBOAT2	129642	broad.mit.edu	37	chr2	9017344	9017344	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagtaagcttggcatgcgcCtgcaatgaaaagacatgcaa	10	10	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:9017344C>A	uc002qzg.1	-	7	640	c.507_splice	c.e7-1	p.R169_splice	MBOAT2_uc010yix.1_Splice_Site_p.R169_splice	NM_138799	NP_620154	Q6ZWT7	MBOA2_HUMAN	O-acyltransferase (membrane bound) domain						phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGGCATGCGCCTGCAATGAAA	0.428													A	9017344	C	A	9017344	5	1	16	1	0	0	0	0	0	0	1	0	9357	695	24	5	1084	5	MBOAT2	2	9017344	Splice_Site	SNP	C	TCGA-BR-4292-01A-01D-1126-08	7557385	9017344	234182029	137	12459											
HPCAL1	3241	broad.mit.edu	37	chr2	10560003	10560003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcaaggactgccccacCggccacctgaccgtggacga	10	17	1	1	rs143370055	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:10560003C>T	uc002raj.2	+	3	494	c.120C>T	c.(118-120)ACC>ACT	p.T40T	HPCAL1_uc002rak.2_Silent_p.T40T|HPCAL1_uc002ral.2_Silent_p.T40T|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Silent_p.T40T	NM_002149	NP_002140	P37235	HPCL1_HUMAN	hippocalcin-like 1	40	EF-hand 1.						calcium ion binding			pancreas(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		ACTGCCCCACCGGCCACCTGA	0.622													T	10560003	C	T	10560003	2	4	16	1	0	0	0	0	0	0	0	1	7330	639	23	1		1	HPCAL1	2	10560003	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1542659	10560003	232639370	138	12460											
GREB1	9687	broad.mit.edu	37	chr2	11756801	11756801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgaaaagggagaggtccCgctcccacgactcagcatcc	10	15	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:11756801C>T	uc002rbk.1	+	21	3667	c.3367C>T	c.(3367-3369)CGC>TGC	p.R1123C	GREB1_uc002rbp.1_Missense_Mutation_p.R121C	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1123	Ser-rich.					integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGAGAGGTCCCGCTCCCACGA	0.493													T	11756801	C	T	11756801	3	4	16	1	0	0	0	0	1	0	0	0	6760	652	23	1	3553	1	GREB1	2	11756801	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1196798	11756801	231442572	139	12461											
KCNS3	3790	broad.mit.edu	37	chr2	18112315	18112315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccatcgccctggacaagacGaggaacttgtcaacctgaat	9	12	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:18112315G>A	uc002rcv.2	+	3	491	c.40G>A	c.(40-42)GAG>AAG	p.E14K	KCNS3_uc002rcw.2_Missense_Mutation_p.E14K	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	14	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGGACAAGACGAGGAACTTGT	0.537													A	18112315	G	A	18112315	3	1	16	1	0	0	0	0	1	0	0	0	8090	1059	37	1	42	1	KCNS3	2	18112315	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	6355514	18112315	225087058	140	12462											
SDC1	6382	broad.mit.edu	37	chr2	20402951	20402951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccacggccactacagcCgtattctcccccgaggtttc	9	17	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:20402951C>T	uc002rdo.1	-	4	959	c.660G>A	c.(658-660)ACG>ACA	p.T220T	SDC1_uc002rdp.1_Silent_p.T220T|SDC1_uc010exv.2_Intron	NM_002997	NP_002988	P18827	SDC1_HUMAN	syndecan 1 precursor	220	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			ovary(4)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CCACTACAGCCGTATTCTCCC	0.647													T	20402951	C	T	20402951	2	4	16	1	0	0	0	0	0	0	0	1	13951	639	23	1		1	SDC1	2	20402951	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2290636	20402951	222796422	141	12463											
KIF3C	3797	broad.mit.edu	37	chr2	26203351	26203351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcctcgctcaccaggctgCggtcatcctggatggctgcc	11	16	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:26203351C>T	uc002rgu.2	-	1	2093	c.1436G>A	c.(1435-1437)CGC>CAC	p.R479H	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.R479H	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	479	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)					CACCAGGCTGCGGTCATCCTG	0.607													T	26203351	C	T	26203351	3	4	16	1	0	0	0	0	1	0	0	0	8302	768	27	1	977	1	KIF3C	2	26203351	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	5800400	26203351	216996022	142	12464											
EPT1	85465	broad.mit.edu	37	chr2	26606214	26606214	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagtttattaaactttttcAggtaagtattttatttttta	5	2	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:26606214A>G	uc010ykz.1	+	7	877	c.730A>G	c.(730-732)AGA>GGA	p.R244G	EPT1_uc010eyl.1_RNA	NM_033505	NP_277040	Q9C0D9	EPT1_HUMAN	selenoprotein I	244					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding				0						AAACTTTTTCAGGTAAGTATT	0.289													G	26606214	A	G	26606214	3	3	16	1	0	0	0	0	1	0	0	0	5199	202	7	3	756	3	EPT1	2	26606214	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	402863	26606214	216593159	143	12465											
OTOF	9381	broad.mit.edu	37	chr2	26693574	26693574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcttcttcttcttcttctCcttctcctcctcagcctgca	2	18	8	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:26693574C>T	uc002rhk.2	-	32	4037	c.3910G>A	c.(3910-3912)GAG>AAG	p.E1304K	OTOF_uc010yla.1_Missense_Mutation_p.E34K|OTOF_uc002rhh.2_Missense_Mutation_p.E537K|OTOF_uc002rhi.2_Missense_Mutation_p.E614K|OTOF_uc002rhj.2_Missense_Mutation_p.E537K	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1304	Cytoplasmic (Potential).|Poly-Lys.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ttcttcttctccttctcctcc	0.512													T	26693574	C	T	26693574	3	4	16	1	0	0	0	0	1	0	0	0	11303	864	30	4	2328	4	OTOF	2	26693574	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	87360	26693574	216505799	144	12466											
KCNK3	3777	broad.mit.edu	37	chr2	26950703	26950703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggggctgggcatgcggcGcgccgacgtgtccatggcca	18	12	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:26950703G>A	uc002rhn.2	+	2	615	c.452G>A	c.(451-453)CGC>CAC	p.R151H		NM_002246	NP_002237	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	151	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCATGCGGCGCGCCGACGTG	0.647													A	26950703	G	A	26950703	3	1	16	1	0	0	0	0	1	0	0	0	8067	1087	38	1	458	1	KCNK3	2	26950703	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	257129	26950703	216248670	145	12467											
DPYSL5	56896	broad.mit.edu	37	chr2	27150265	27150265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacattggggcaatcgccCgcgtccatgctgaaaatggg	14	10	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:27150265C>T	uc002rhu.3	+	4	723	c.565C>T	c.(565-567)CGC>TGC	p.R189C	DPYSL5_uc002rhv.3_Missense_Mutation_p.R189C	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	189					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAATCGCCCGCGTCCATGC	0.532													T	27150265	C	T	27150265	3	4	16	1	0	0	0	0	1	0	0	0	4750	652	23	1	575	1	DPYSL5	2	27150265	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	199562	27150265	216049108	146	12468											
AGBL5	60509	broad.mit.edu	37	chr2	27278613	27278613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgatgccgtcctgcacccGgccatctatggggccaaagc	11	16	1	1	rs140050281		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:27278613G>A	uc002rie.2	+	7	1189	c.972G>A	c.(970-972)CCG>CCA	p.P324P	AGBL5_uc002ric.2_Silent_p.P324P|AGBL5_uc002rid.2_Silent_p.P324P|AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	324					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTGCACCCGGCCATCTATG	0.552													A	27278613	G	A	27278613	2	1	16	1	0	0	0	0	0	0	0	1	378	1103	39	1		1	AGBL5	2	27278613	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	128348	27278613	215920760	147	12469											
AGBL5	60509	broad.mit.edu	37	chr2	27282079	27282079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttgcctgtctcctgctcCgaaaacaccttgagtcgggc	12	13	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:27282079C>T	uc002rie.2	+	11	2113	c.1896C>T	c.(1894-1896)TCC>TCT	p.S632S	AGBL5_uc002rid.2_Silent_p.S632S|AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	632					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCTGCTCCGAAAACACCT	0.537													T	27282079	C	T	27282079	2	4	16	1	0	0	0	0	0	0	0	1	378	639	23	1		1	AGBL5	2	27282079	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3466	27282079	215917294	148	12470											
IFT172	26160	broad.mit.edu	37	chr2	27679392	27679392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaccaattgtctgcagcGtggtcaacagcagcttccag	9	14	3	0	rs76787560	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:27679392G>A	uc002rku.2	-	30	3408	c.3357C>T	c.(3355-3357)CAC>CAT	p.H1119H	IFT172_uc010ezb.2_5'Flank	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	1119					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					TGTCTGCAGCGTGGTCAACAG	0.522													A	27679392	G	A	27679392	2	1	16	1	0	0	0	0	0	0	0	1	7557	1136	40	1		1	IFT172	2	27679392	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	397313	27679392	215519981	149	12471											
PLB1	151056	broad.mit.edu	37	chr2	28825712	28825712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagtcctggtcaacctcGtggacttcctgaaccccact	8	16	1	2	rs142314104	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:28825712G>A	uc002rmb.1	+	39	2698	c.2698G>A	c.(2698-2700)GTG>ATG	p.V900M	PLB1_uc010ezj.1_Missense_Mutation_p.V889M|PLB1_uc002rme.1_Translation_Start_Site|PLB1_uc002rmf.1_5'Flank	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	900	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|3.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					GGTCAACCTCGTGGACTTCCT	0.612													A	28825712	G	A	28825712	3	1	16	1	0	0	0	0	1	0	0	0	12024	1145	40	1	2885	1	PLB1	2	28825712	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1146320	28825712	214373661	150	12472											
C2orf71	388939	broad.mit.edu	37	chr2	29295029	29295029	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatggcatttggaagcttcCcagctttgccttgttcgtcc	11	11	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:29295029C>A	uc002rmt.1	-	1	2099	c.2099G>T	c.(2098-2100)GGG>GTG	p.G700V		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	700					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						TGGAAGCTTCCCAGCTTTGCC	0.517													A	29295029	C	A	29295029	3	1	16	1	0	0	0	0	1	0	0	0	2191	623	22	5	1775	5	C2orf71	2	29295029	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	469317	29295029	213904344	151	12473											
SULT6B1	391365	broad.mit.edu	37	chr2	37395141	37395142	+	Frame_Shift_Del	DEL	TT	TT	-													gaggtgcctgctaagcactcTttgaatttttcatccatttc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:37395140_37395141CTT>C	uc002rpu.3	-	6	756_757	c.735_736AAG>G	c.(733-738)aaagagfs	p.K245fs	SULT6B1_uc010yni.2_Non-coding_Transcript	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 6B, member 1 (SULT6B1), mRNA.	283						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				GCTAAGCACTCTTTGAATTTTT	0.391													-	37395142	TT	-	37395141	7	5	16	1	0	1	0	1	0	0	0	0	15381	1606	56	0	66	0	SULT6B1	2	37395141	Frame_Shift_Del	DEL	TT	TCGA-BR-4292-01A-01D-1126-08	8100112	37395141	205804232	152	12474											
TMEM178	130733	broad.mit.edu	37	chr2	39931305	39931305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttttaatttaaccaagaCcatacagcaagatgagtggc	7	9	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:39931305C>T	uc002rrt.2	+	2	510	c.485C>T	c.(484-486)ACC>ATC	p.T162I	TMEM178_uc010fam.1_Missense_Mutation_p.T162I	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	transmembrane protein 178 precursor	162	Extracellular (Potential).					integral to membrane					0		all_hematologic(82;0.248)				TTAACCAAGACCATACAGCAA	0.458													T	39931305	C	T	39931305	3	4	16	1	0	0	0	0	1	0	0	0	16092	507	18	4	491	4	TMEM178	2	39931305	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2536164	39931305	203268068	153	12475											
LOC728819	728819	broad.mit.edu	37	chr2	43903432	43903432	+	Frame_Shift_Del	DEL	A	A	-													ctcccaagcaacatacccttAaaaaatgatgtcccactagc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:43903431_43903431TA>T	uc010fav.1	-	0	31	c.31_31TA>A	c.(31-33)aagfs	p.K11fs	PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.2_Intron	NM_001101330	NP_001094800			Homo sapiens hCG1645220 (LOC728819), mRNA.														all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AACATACCCTTAAAAAATGAT	0.512													-	43903432	A	-	43903432	7	5	16	1	0	1	0	1	0	0	0	0	8887	359	13	0	921	0	LOC728819	2	43903432	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	3972127	43903432	199295941	154	12476											
ABCG8	64241	broad.mit.edu	37	chr2	44079930	44079930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccccatctacttaggggCggcccagcacatggtccagt	10	16	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:44079930C>T	uc002rtq.2	+	6	977	c.887C>T	c.(886-888)GCG>GTG	p.A296V	ABCG8_uc010yoa.1_Missense_Mutation_p.A296V	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	296	ABC transporter.|Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TACTTAGGGGCGGCCCAGCAC	0.592													T	44079930	C	T	44079930	3	4	16	1	0	0	0	0	1	0	0	0	72	768	27	1	909	1	ABCG8	2	44079930	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	176498	44079930	199119443	155	12477											
SRBD1	55133	broad.mit.edu	37	chr2	45778340	45778340	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attaaggtgcgccctggaacAgggcttgttaaaaggagctg	14	7	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:45778340A>C	uc002rus.2	-	12	1675	c.1599T>G	c.(1597-1599)CCT>CCG	p.P533P	SRBD1_uc010yoc.1_Silent_p.P52P	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	533					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GCCCTGGAACAGGGCTTGTTA	0.398													C	45778340	A	C	45778340	2	2	16	1	0	0	0	0	0	0	0	1	15132	175	7	5		5	SRBD1	2	45778340	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	1698410	45778340	197421033	156	12478											
SRBD1	55133	broad.mit.edu	37	chr2	45800478	45800478	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacaaacatgtctcttctgGcacctgttcagatacacaag	6	11	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:45800478G>A	uc002rus.2	-	9	1249	c.1173C>T	c.(1171-1173)TGC>TGT	p.C391C		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	391					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GTCTCTTCTGGCACCTGTTCA	0.328													A	45800478	G	A	45800478	2	1	16	1	0	0	0	0	0	0	0	1	15132	1195	42	2		2	SRBD1	2	45800478	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	22138	45800478	197398895	157	12479											
FSHR	2492	broad.mit.edu	37	chr2	49210115	49210115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcttctaaattattattatCgcttagattcctggggatgg	8	6	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:49210115C>T	uc002rww.2	-	8	678	c.604G>A	c.(604-606)GAT>AAT	p.D202N	FSHR_uc002rwx.2_Missense_Mutation_p.D202N|FSHR_uc010fbn.2_Missense_Mutation_p.D176N	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	202	LRR 7.|Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TTATTATTATCGCTTAGATTC	0.413									Gonadal_Dysgenesis_46_XX				T	49210115	C	T	49210115	3	4	16	1	0	0	0	0	1	0	0	0	6073	884	31	1	1495	1	FSHR	2	49210115	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3409637	49210115	193989258	158	12480											
NRXN1	9378	broad.mit.edu	37	chr2	50318469	50318469	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacttgcttacctgcagggTagcgctcgatcactggccag	11	13	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:50318469T>C	uc010fbp.2	-	3	1412	c.605A>G	c.(604-606)TAC>TGC	p.Y202C	NRXN1_uc002rxb.3_Missense_Mutation_p.Y909C|NRXN1_uc010fbq.2_Missense_Mutation_p.Y1277C|NRXN1_uc002rxe.3_Missense_Mutation_p.Y1237C	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	202	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACCTGCAGGGTAGCGCTCGAT	0.448													C	50318469	T	C	50318469	3	2	16	1	0	0	0	0	1	0	0	0	10665	1638	57	3	833	3	NRXN1	2	50318469	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	1108354	50318469	192880904	159	12481											
NRXN1	9378	broad.mit.edu	37	chr2	50573961	50573961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgccactcctaggaggcCgctgagggtgagcgggacta	15	13	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:50573961C>T	uc010fbp.2	-	1	934	c.127G>A	c.(127-129)GGC>AGC	p.G43S	NRXN1_uc002rxb.3_Intron|NRXN1_uc010fbq.2_Intron|NRXN1_uc002rxe.3_Intron|NRXN1_uc002rxc.1_Intron	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	43					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCTAGGAGGCCGCTGAGGGTG	0.522													T	50573961	C	T	50573961	3	4	16	1	0	0	0	0	1	0	0	0	10665	652	23	1	1319	1	NRXN1	2	50573961	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	255492	50573961	192625412	160	12482											
CCDC104	112942	broad.mit.edu	37	chr2	55756040	55756042	+	In_Frame_Del	DEL	AGA	AGA	-													ttgcaacctgtgttggcagcAgaagattttactatctttaa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:55756039_55756041CAGA>C	uc002ryx.2	+	4	581_583	c.383_385CAGA>C	c.(382-387)gcagaa>gCaa	p.E129del	CCDC104_uc002ryy.2_In_Frame_Del_p.E104del	NM_080667	NP_542398	Q96G28	CC104_HUMAN	Homo sapiens coiled-coil domain containing 104 (CCDC104), mRNA.	104										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTGTTGGCAGCAGAAGATTTTAC	0.355													-	55756042	AGA	-	55756040	7	5	16	1	0	1	0	1	0	0	0	0	2739	175	7	0	323	0	CCDC104	2	55756040	In_Frame_Del	DEL	AGA	TCGA-BR-4292-01A-01D-1126-08	5182079	55756040	187443333	161	12483											
USP34	9736	broad.mit.edu	37	chr2	61441428	61441428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggttctgaacaataaggcGgatattctctggacagtcag	12	7	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:61441428G>A	uc002sbe.2	-	68	8471	c.8449C>T	c.(8449-8451)CGC>TGC	p.R2817C		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2817					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			ACAATAAGGCGGATATTCTCT	0.428													A	61441428	G	A	61441428	3	1	16	1	0	0	0	0	1	0	0	0	17062	1116	39	1	2243	1	USP34	2	61441428	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	5685388	61441428	181757945	162	12484											
B3GNT2	10678	broad.mit.edu	37	chr2	62450427	62450427	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggcttcaggacatttgatAtcgaggagaaaaacaaaaat	9	5	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:62450427A>G	uc002sbs.2	+	2	1310	c.1072A>G	c.(1072-1074)ATC>GTC	p.I358V		NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal	358	Lumenal (Potential).					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)	1	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GACATTTGATATCGAGGAGAA	0.408													G	62450427	A	G	62450427	3	3	16	1	0	0	0	0	1	0	0	0	1257	449	16	3	1074	3	B3GNT2	2	62450427	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	1008999	62450427	180748946	163	12485											
ANTXR1	84168	broad.mit.edu	37	chr2	69409628	69409628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tattttgtttattttaggttCgttggggagaaaagggctcc	12	4	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:69409628C>T	uc002sfg.2	+	16	1545	c.1189C>T	c.(1189-1191)CGT>TGT	p.R397C		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	397	Cytoplasmic (Potential).				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4						ATTTTAGGTTCGTTGGGGAGA	0.413									Familial_Infantile_Hemangioma				T	69409628	C	T	69409628	3	4	16	1	0	0	0	0	1	0	0	0	711	884	31	1	1328	1	ANTXR1	2	69409628	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	6959201	69409628	173789745	164	12486											
ANXA4	307	broad.mit.edu	37	chr2	70039823	70039823	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aattatctggacgatgctctCgtgagacaggatgcccaggt	12	9	2	1	rs141776547		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:70039823C>T	uc002sfr.3	+	8	743	c.516C>T	c.(514-516)CTC>CTT	p.L172L	ANXA4_uc010yqn.1_RNA|ANXA4_uc002sfs.3_Silent_p.L150L|ANXA4_uc010yqo.1_Silent_p.L88L	NM_001153	NP_001144	P09525	ANXA4_HUMAN	annexin IV	170					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity				0						ACGATGCTCTCGTGAGACAGG	0.453													T	70039823	C	T	70039823	2	4	16	1	0	0	0	0	0	0	0	1	720	871	31	1		1	ANXA4	2	70039823	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	630195	70039823	173159550	165	12487											
C2orf42	54980	broad.mit.edu	37	chr2	70406777	70406777	+	Splice_Site	DEL	A	A	-													caataatctctttaagacctAaaaaaaagaagatttctgaa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:70406776_70406776TA>T	uc002sgh.3	-	4	1152	c.824_splice	c.e4-1	p.G275_splice		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	275										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CTTTAAGACCTAAAAAAAAGA	0.353													-	70406777	A	-	70406777	8	5	16	1	0	1	0	1	0	0	1	0	2166	377	13	0		0	C2orf42	2	70406777	Splice_Site	DEL	A	TCGA-BR-4292-01A-01D-1126-08	366954	70406777	172792596	166	12488											
CLEC4F	165530	broad.mit.edu	37	chr2	71043196	71043196	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggcgactctgctcctgCtggatttccatggttagagc	11	11	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:71043196C>A	uc002shf.2	-	4	1394	c.1317G>T	c.(1315-1317)CAG>CAT	p.Q439H	CLEC4F_uc010yqv.1_Missense_Mutation_p.Q439H	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	C-type lectin, superfamily member 13	439	Extracellular (Potential).				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(5)	5						TCTGCTCCTGCTGGATTTCCA	0.517													A	71043196	C	A	71043196	3	1	16	1	0	0	0	0	1	0	0	0	3516	796	28	5	468	5	CLEC4F	2	71043196	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	636419	71043196	172156177	167	12489											
VAX2	25806	broad.mit.edu	37	chr2	71148370	71148370	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagtatgtggtgggccgCgagcgcactgagctggcccg	17	12	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:71148370C>T	uc002shh.2	+	2	422	c.390C>T	c.(388-390)CGC>CGT	p.R130R		NM_012476	NP_036608	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	130	Homeobox.				ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TGGTGGGCCGCGAGCGCACTG	0.647													T	71148370	C	T	71148370	2	4	16	1	0	0	0	0	0	0	0	1	17132	755	27	1		1	VAX2	2	71148370	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	105174	71148370	172051003	168	12490											
ZNF638	27332	broad.mit.edu	37	chr2	71591248	71591248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtccaagaatttgccatcGtttcatttctagatacagat	6	8	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:71591248G>A	uc002shx.2	+	5	1902	c.1583G>A	c.(1582-1584)CGT>CAT	p.R528H	ZNF638_uc010fec.2_Missense_Mutation_p.R634H|ZNF638_uc010yqw.1_Missense_Mutation_p.R107H|ZNF638_uc002shw.2_Missense_Mutation_p.R528H|ZNF638_uc002shy.2_Missense_Mutation_p.R528H|ZNF638_uc002shz.2_Missense_Mutation_p.R528H|ZNF638_uc002sia.2_Missense_Mutation_p.R528H|ZNF638_uc002sib.1_Missense_Mutation_p.R528H|ZNF638_uc010fed.2_5'Flank	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	528	Arg-rich.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						ATTTGCCATCGTTTCATTTCT	0.433													A	71591248	G	A	71591248	3	1	16	1	0	0	0	0	1	0	0	0	18052	1145	40	1	1597	1	ZNF638	2	71591248	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	442878	71591248	171608125	169	12491											
LRRTM1	347730	broad.mit.edu	37	chr2	80529936	80529936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcgcactgcaagttgccatCgtagcgcccctggaagttgt	13	12	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:80529936C>T	uc002sok.1	-	2	1279	c.1009G>A	c.(1009-1011)GAT>AAT	p.D337N	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	337	LRRCT.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						AAGTTGCCATCGTAGCGCCCC	0.657										HNSCC(69;0.2)			T	80529936	C	T	80529936	3	4	16	1	0	0	0	0	1	0	0	0	9039	884	31	1	563	1	LRRTM1	2	80529936	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	8938688	80529936	162669437	170	12492											
PTCD3	55037	broad.mit.edu	37	chr2	86355071	86355071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtaatttgagaaccctcGcttgcaacatatcaccatat	6	11	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:86355071G>A	uc002sqw.2	+	14	1170	c.1104G>A	c.(1102-1104)TCG>TCA	p.S368S	PTCD3_uc002sqx.1_5'UTR	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3 precursor	368	PPR 6.					mitochondrion	protein binding			ovary(1)	1						GAGAACCCTCGCTTGCAACAT	0.338													A	86355071	G	A	86355071	2	1	16	1	0	0	0	0	0	0	0	1	12729	1074	38	1		1	PTCD3	2	86355071	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	5825135	86355071	156844302	171	12493											
ZAP70	7535	broad.mit.edu	37	chr2	98351851	98351851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattggcgtctgccaggcCgaggccctcatgctggtcat	12	14	4	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:98351851C>T	uc002syd.1	+	10	1428	c.1221C>T	c.(1219-1221)GCC>GCT	p.A407A	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Silent_p.A297A|ZAP70_uc002syf.1_Silent_p.A100A	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	407	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						TCTGCCAGGCCGAGGCCCTCA	0.662													T	98351851	C	T	98351851	2	4	16	1	0	0	0	0	0	0	0	1	17511	639	23	1		1	ZAP70	2	98351851	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	11996780	98351851	144847522	172	12494											
CNGA3	1261	broad.mit.edu	37	chr2	99008387	99008387	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctggtcctggactactcGgcagatgtcctgtatgtctt	12	10	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:99008387G>A	uc002syt.2	+	7	1044	c.627G>A	c.(625-627)TCG>TCA	p.S209S	CNGA3_uc002syu.2_Silent_p.S191S|CNGA3_uc010fij.2_Silent_p.S213S	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	209					signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						TGGACTACTCGGCAGATGTCC	0.597													A	99008387	G	A	99008387	2	1	16	1	0	0	0	0	0	0	0	1	3598	1103	39	1		1	CNGA3	2	99008387	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	656536	99008387	144190986	173	12495											
LIPT1	51601	broad.mit.edu	37	chr2	99779031	99779031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagggatcaggagcaatgCcactgctagcataccttcct	9	13	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:99779031C>T	uc002szm.3	+	4	951	c.611C>T	c.(610-612)GCC>GTC	p.A204V	MRPL30_uc002szl.1_Intron|LIPT1_uc002szn.3_Missense_Mutation_p.A204V|LIPT1_uc002szo.3_Missense_Mutation_p.A204V|LIPT1_uc002szp.3_Missense_Mutation_p.A204V|LIPT1_uc002szq.3_Missense_Mutation_p.A204V|MRPL30_uc002szr.2_Intron	NM_145198	NP_660199	Q9Y234	LIPT_HUMAN	lipoyltransferase 1 precursor	204					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity				0					Lipoic Acid(DB00166)	AGGAGCAATGCCACTGCTAGC	0.438													T	99779031	C	T	99779031	3	4	16	1	0	0	0	0	1	0	0	0	8829	739	26	2	613	2	LIPT1	2	99779031	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	770644	99779031	143420342	174	12496											
EIF5B	9669	broad.mit.edu	37	chr2	100013282	100013282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagtacatttttaattctcGagatccgatagtgatggggg	11	6	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:100013282G>A	uc002tab.2	+	22	3498	c.3314G>A	c.(3313-3315)CGA>CAA	p.R1105Q	EIF5B_uc010yvq.1_Missense_Mutation_p.R87Q	NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1105					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						TTTAATTCTCGAGATCCGATA	0.413													A	100013282	G	A	100013282	3	1	16	1	0	0	0	0	1	0	0	0	5044	1058	37	1	3400	1	EIF5B	2	100013282	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	234251	100013282	143186091	175	12497											
PDCL3	79031	broad.mit.edu	37	chr2	101188062	101188062	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttttatagaattcccctcTgtgccctgataaatcagcac	6	11	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:101188062T>C	uc002tao.2	+	5	491	c.379T>C	c.(379-381)TGT>CGT	p.C127R		NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	127					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding				0						AATTCCCCTCTGTGCCCTGAT	0.388													C	101188062	T	C	101188062	3	2	16	1	0	0	0	0	1	0	0	0	11628	1580	55	3	397	3	PDCL3	2	101188062	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	1174780	101188062	142011311	176	12498											
MERTK	10461	broad.mit.edu	37	chr2	112704982	112704982	+	Frame_Shift_Del	DEL	T	T	-													tctccgcaggacttcctcacTttactaagcagcctgagagc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:112704982delT	uc002thk.1	+	4	717	c.595delT	c.(595-597)TTTfs	p.F199fs	MERTK_uc002thl.1_Frame_Shift_Del_p.F23fs	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	199	Extracellular (Potential).|Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						ACTTCCTCACTTTACTAAGCA	0.493													-	112704982	T	-	112704982	7	5	16	1	0	1	0	1	0	0	0	0	9479	1609	56	0	609	0	MERTK	2	112704982	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	11516920	112704982	130494391	177	12499											
STEAP3	55240	broad.mit.edu	37	chr2	120020821	120020821	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctgcatcagccgcagactCgccaggatccggagaggctg	13	15	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:120020821C>T	uc002tlp.2	+	6	1531	c.1374C>T	c.(1372-1374)CTC>CTT	p.L458L	STEAP3_uc002tlq.2_Silent_p.L468L|STEAP3_uc002tlr.2_Silent_p.L458L|STEAP3_uc010fle.2_3'UTR	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	458	Cytoplasmic (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			central_nervous_system(2)|skin(1)	3						GCCGCAGACTCGCCAGGATCC	0.632													T	120020821	C	T	120020821	2	4	16	1	0	0	0	0	0	0	0	1	15278	871	31	1		1	STEAP3	2	120020821	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	7315839	120020821	123178552	178	12500											
INHBB	3625	broad.mit.edu	37	chr2	121107076	121107076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtgcaggctcggctgggcGacagcaggcaccgcattcgc	16	13	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:121107076G>A	uc002tmn.2	+	2	896	c.850G>A	c.(850-852)GAC>AAC	p.D284N		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	284					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)				TCGGCTGGGCGACAGCAGGCA	0.647													A	121107076	G	A	121107076	3	1	16	1	0	0	0	0	1	0	0	0	7742	1058	37	1	856	1	INHBB	2	121107076	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1086255	121107076	122092297	179	12501											
IWS1	55677	broad.mit.edu	37	chr2	128281353	128281353	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgttcatcctgtactggggTagcaccaccatcatctgatt	8	13	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:128281353T>C	uc002ton.2	-	2	352	c.49A>G	c.(49-51)ACC>GCC	p.T17A	IWS1_uc010yzl.1_RNA|IWS1_uc010fma.2_Intron	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	17					transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TGTACTGGGGTAGCACCACCA	0.418													C	128281353	T	C	128281353	3	2	16	1	0	0	0	0	1	0	0	0	7931	1638	57	3	2462	3	IWS1	2	128281353	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	7174277	128281353	114918020	180	12502											
FAM128B	80097	broad.mit.edu	37	chr2	130948157	130948157	+	Frame_Shift_Del	DEL	G	G	-													agcgctaccaggctgcccaaGgggggcgggcctgggaagag							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:130948157delG	uc002tqu.2	+	3	588	c.435delG	c.(433-435)AAGfs	p.K145fs		NM_025029	NP_079305	Q6NZ67	MZT2B_HUMAN	hypothetical protein LOC80097	145						centrosome|gamma-tubulin ring complex|spindle	protein binding				0	Colorectal(110;0.1)					GGCTGCCCAAGGGGGGCGGGC	0.657													-	130948157	G	-	130948157	7	5	16	1	0	1	0	1	0	0	0	0	5435	991	35	0	445	0	FAM128B	2	130948157	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	2666804	130948157	112251216	181	12503											
TUBA3E	112714	broad.mit.edu	37	chr2	130951399	130951399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccacaaactggatagtgCgcttggtcttgatggtggcg	13	8	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:130951399C>T	uc002tqv.2	-	4	1117	c.1016G>A	c.(1015-1017)CGC>CAC	p.R339H		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	339					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1	Colorectal(110;0.1)					CTGGATAGTGCGCTTGGTCTT	0.547													T	130951399	C	T	130951399	3	4	16	1	0	0	0	0	1	0	0	0	16745	768	27	1	344	1	TUBA3E	2	130951399	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3242	130951399	112247974	182	12504											
IMP4	92856	broad.mit.edu	37	chr2	131103825	131103825	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacgtggagctcactgaggtCgggccccgctttgagctgaa	14	11	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:131103825C>T	uc002tra.1	+	8	758	c.741C>T	c.(739-741)GTC>GTT	p.V247V		NM_033416	NP_219484	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein,	247	Brix.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)	2	Colorectal(110;0.1)					TCACTGAGGTCGGGCCCCGCT	0.622													T	131103825	C	T	131103825	2	4	16	1	0	0	0	0	0	0	0	1	7720	871	31	1		1	IMP4	2	131103825	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	152426	131103825	112095548	183	12505											
LCT	3938	broad.mit.edu	37	chr2	136594278	136594279	+	Frame_Shift_Del	DEL	AT	AT	-													gagtggaaggcgaatgtggcAtagtcggcgaagaggtcagc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:136594278_136594279delAT	uc002tuu.1	-	1	472_473	c.461_462delAT	c.(460-462)TATfs	p.Y154fs		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	154	Extracellular (Potential).|4 X approximate repeats.|1.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		CGAATGTGGCATAGTCGGCGAA	0.574													-	136594279	AT	-	136594278	7	5	16	1	0	1	0	1	0	0	0	0	8693	224	8	0	5389	0	LCT	2	136594278	Frame_Shift_Del	DEL	AT	TCGA-BR-4292-01A-01D-1126-08	5490453	136594278	106605095	184	12506											
THSD7B	80731	broad.mit.edu	37	chr2	137852592	137852592	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atttaggagcaggagccggaAcgtgaagcacatggctattg	14	7	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:137852592A>T	uc002tva.1	+	3	1007	c.1007A>T	c.(1006-1008)AAC>ATC	p.N336I	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.N226I	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGGAGCCGGAACGTGAAGCAC	0.542													T	137852592	A	T	137852592	3	4	16	1	0	0	0	0	1	0	0	0	15877	43	2	5	1017	5	THSD7B	2	137852592	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	1258314	137852592	105346781	185	12507											
SPOPL	339745	broad.mit.edu	37	chr2	139326628	139326628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacagtttggcattccacGcaaacggctaaaacagtcct	7	13	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:139326628G>A	uc002tvh.2	+	11	1557	c.1157G>A	c.(1156-1158)CGC>CAC	p.R386H		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	386						nucleus				skin(2)|breast(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GGCATTCCACGCAAACGGCTA	0.443													A	139326628	G	A	139326628	3	1	16	1	0	0	0	0	1	0	0	0	15084	1087	38	1	1195	1	SPOPL	2	139326628	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1474036	139326628	103872745	186	12508											
GTDC1	79712	broad.mit.edu	37	chr2	144710386	144710386	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttaggacaaagtgggtaAcacccacagtacacagcttc	8	11	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:144710386A>C	uc002tvp.2	-	10	1434	c.1155T>G	c.(1153-1155)TGT>TGG	p.C385W	GTDC1_uc002tvo.2_Missense_Mutation_p.V337G|GTDC1_uc002tvq.2_Missense_Mutation_p.C267W|GTDC1_uc002tvr.2_Missense_Mutation_p.C300W|GTDC1_uc010fnn.2_Missense_Mutation_p.C385W|GTDC1_uc002tvs.2_Missense_Mutation_p.C353W|GTDC1_uc010fno.2_Missense_Mutation_p.C256W	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	385					biosynthetic process		transferase activity, transferring glycosyl groups			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0914)		AAAGTGGGTAACACCCACAGT	0.333													C	144710386	A	C	144710386	3	2	16	1	0	0	0	0	1	0	0	0	6851	41	2	5	233	5	GTDC1	2	144710386	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	5383758	144710386	98488987	187	12509											
ACVR2A	92	broad.mit.edu	37	chr2	148674946	148674946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattggtgcagaaaaacgagGcaccagtgttgatgtggatc	13	7	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:148674946G>A	uc002twg.2	+	7	1036	c.767G>A	c.(766-768)GGC>GAC	p.G256D	ACVR2A_uc010zbn.1_Missense_Mutation_p.G148D|ACVR2A_uc002twh.2_Missense_Mutation_p.G256D	NM_001616	NP_001607	P27037	AVR2A_HUMAN	activin A receptor, type IIA precursor	256	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GAAAAACGAGGCACCAGTGTT	0.403													A	148674946	G	A	148674946	3	1	16	1	0	0	0	0	1	0	0	0	223	1203	42	2	789	2	ACVR2A	2	148674946	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	3964560	148674946	94524427	188	12510											
NEB	4703	broad.mit.edu	37	chr2	152521924	152521924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaagtgaacttcagcttctCggggtgctggcgatacttct	12	9	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:152521924C>T	uc010fnx.2	-	42	5352	c.5161G>A	c.(5161-5163)GAG>AAG	p.E1721K		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1721	Nebulin 44.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCAGCTTCTCGGGGTGCTGG	0.507													T	152521924	C	T	152521924	3	4	16	1	0	0	0	0	1	0	0	0	10302	893	31	1	21089	1	NEB	2	152521924	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3846978	152521924	90677449	189	12511											
UPP2	151531	broad.mit.edu	37	chr2	158980303	158980303	+	Frame_Shift_Del	DEL	A	A	-													actgtgctccttttccagagAaaaaaagttagactacttga							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:158980302_158980302GA>G	uc002tzo.3	+	7	897	c.877_877GA>G	c.(877-879)gaafs	p.E293fs	UPP2_uc002tzp.3_Frame_Shift_Del_p.E236fs	NM_001135098	NP_775491	O95045	UPP2_HUMAN	Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 2, mRNA.	236					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						CTTTTCCAGAGAAAAAAAGTT	0.473													-	158980303	A	-	158980303	7	5	16	1	0	1	0	1	0	0	0	0	17010	246	9	0	908	0	UPP2	2	158980303	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	6458379	158980303	84219070	190	12512											
FAP	2191	broad.mit.edu	37	chr2	163072486	163072486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtatcgataataaatatcCgaacaacgggattcttagct	8	7	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:163072486C>T	uc002ucd.2	-	10	996	c.788G>A	c.(787-789)CGG>CAG	p.R263Q	FAP_uc010zct.1_Missense_Mutation_p.R238Q|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Missense_Mutation_p.R230Q	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	263	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3						AATAAATATCCGAACAACGGG	0.403													T	163072486	C	T	163072486	3	4	16	1	0	0	0	0	1	0	0	0	5673	652	23	1	1562	1	FAP	2	163072486	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	4092183	163072486	80126887	191	12513											
LRP2	4036	broad.mit.edu	37	chr2	170099985	170099985	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaacgataggtcaatacatcGatgattggggcaattaaact	9	6	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:170099985G>A	uc002ues.2	-	23	3691	c.3478C>T	c.(3478-3480)CGA>TGA	p.R1160*	LRP2_uc010zdf.1_Nonsense_Mutation_p.R1023*	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1160	LDL-receptor class A 11.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCAATACATCGATGATTGGGG	0.398													A	170099985	G	A	170099985	4	1	16	1	0	0	0	0	0	1	0	0	8956	1066	37	1	10717	1	LRP2	2	170099985	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	7027499	170099985	73099388	192	12514											
METTL8	79828	broad.mit.edu	37	chr2	172188335	172188335	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttacgagctccacagctccAgaagcaaaatcacaacaata	5	12	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:172188335A>G	uc010zdo.1	-	6	840	c.699T>C	c.(697-699)TCT>TCC	p.S233S	METTL8_uc002ugu.3_Silent_p.S233S|METTL8_uc002ugv.3_Silent_p.S233S|METTL8_uc002ugt.3_Silent_p.S233S|METTL8_uc002ugs.3_Silent_p.S183S|METTL8_uc010zdp.1_Silent_p.S188S	NM_024770	NP_079046	B3KW44	B3KW44_HUMAN	methyltransferase like 8	233							methyltransferase activity			ovary(1)	1						CCACAGCTCCAGAAGCAAAAT	0.323													G	172188335	A	G	172188335	2	3	16	1	0	0	0	0	0	0	0	1	9507	175	7	3		3	METTL8	2	172188335	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	2088350	172188335	71011038	193	12515											
SCRN3	79634	broad.mit.edu	37	chr2	175263005	175263005	+	Splice_Site	DEL	A	A	-													catctgtataatttttagttAaaaaaaatggaacctttttc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:175263004_175263004TA>T	uc002uiq.3	+	2	90	c.-8_splice	c.e2-1		CIR1_uc002uim.3_5'Flank|CIR1_uc002uin.3_5'Flank|SCRN3_uc010zen.2_Intron|SCRN3_uc010zeo.2_Splice_Site|SCRN3_uc002uir.1_Splice_Site	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	Homo sapiens secernin 3 (SCRN3), transcript variant 1, mRNA.						proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AATTTTTAGTTAAAAAAAATG	0.279													-	175263005	A	-	175263005	8	5	16	1	0	1	0	1	0	0	1	0	13940	377	13	0		0	SCRN3	2	175263005	Splice_Site	DEL	A	TCGA-BR-4292-01A-01D-1126-08	3074670	175263005	67936368	194	12516											
HOXD4	3233	broad.mit.edu	37	chr2	177017383	177017383	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcggtcccgaacggccTacacccggcagcaagtccta	10	17	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:177017383T>C	uc002uks.2	+	2	730	c.481T>C	c.(481-483)TAC>CAC	p.Y161H		NM_014621	NP_055436	P09016	HXD4_HUMAN	homeobox D4	161	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CCGAACGGCCTACACCCGGCA	0.552													C	177017383	T	C	177017383	3	2	16	1	0	0	0	0	1	0	0	0	7324	1522	53	3	487	3	HOXD4	2	177017383	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	1754378	177017383	66181990	195	12517											
TTN	7273	broad.mit.edu	37	chr2	179397385	179397385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagatgtccccaagagaacGtcttctaggtcggtagtaaa	11	8	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:179397385G>A	uc010zfg.1	-	307	96477	c.96253C>T	c.(96253-96255)CGT>TGT	p.R32085C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R25780C|TTN_uc010zfi.1_Missense_Mutation_p.R25713C|TTN_uc010zfj.1_Missense_Mutation_p.R25588C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33012							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAAGAGAACGTCTTCTAGGT	0.463													A	179397385	G	A	179397385	3	1	16	1	0	0	0	0	1	0	0	0	16732	1145	40	1	4042	1	TTN	2	179397385	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2380002	179397385	63801988	196	12518											
TTN	7273	broad.mit.edu	37	chr2	179403334	179403334	+	Frame_Shift_Del	DEL	A	A	-													agcccagtctcattctcagcAaaaaccctgaattcatactc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:179403334delA	uc010zfg.1	-	303	91742	c.91518delT	c.(91516-91518)TTTfs	p.F30506fs	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.F24201fs|TTN_uc010zfi.1_Frame_Shift_Del_p.F24134fs|TTN_uc010zfj.1_Frame_Shift_Del_p.F24009fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31433							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTCTCAGCAAAAACCCTGA	0.418													-	179403334	A	-	179403334	7	5	16	1	0	1	0	1	0	0	0	0	16732	127	5	0	8793	0	TTN	2	179403334	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	5949	179403334	63796039	197	12519											
TTN	7273	broad.mit.edu	37	chr2	179435651	179435651	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgatcttcaactaggcCagttacttcaaaatgagtgt	8	8	4	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:179435651C>A	uc010zfg.1	-	275	67728	c.67504G>T	c.(67504-67506)GGC>TGC	p.G22502C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G16197C|TTN_uc010zfi.1_Missense_Mutation_p.G16130C|TTN_uc010zfj.1_Missense_Mutation_p.G16005C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23429							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAACTAGGCCAGTTACTTCA	0.418													A	179435651	C	A	179435651	3	1	16	1	0	0	0	0	1	0	0	0	16732	594	21	5	32919	5	TTN	2	179435651	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	32317	179435651	63763722	198	12520											
TTN	7273	broad.mit.edu	37	chr2	179499546	179499546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtgcaaagttaagaagcGttttccaccttctgctttga	8	8	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:179499546G>A	uc010zfg.1	-	178	34575	c.34351C>T	c.(34351-34353)CGC>TGC	p.R11451C	TTN_uc010zfh.1_Missense_Mutation_p.R5146C|TTN_uc010zfi.1_Missense_Mutation_p.R5079C|TTN_uc010zfj.1_Missense_Mutation_p.R4954C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12378							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTAAGAAGCGTTTTCCACCT	0.373													A	179499546	G	A	179499546	3	1	16	1	0	0	0	0	1	0	0	0	16732	1145	40	1	66174	1	TTN	2	179499546	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	63895	179499546	63699827	199	12521											
TTN	7273	broad.mit.edu	37	chr2	179535860	179535860	+	Frame_Shift_Del	DEL	T	T	-													ggaacaactttagtgggcggTttttttggagggatgatttt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:179535860delT	uc010zfg.1	-	151	31586	c.31362delA	c.(31360-31362)AAAfs	p.K10454fs	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.K7115fs|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11381							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGTGGGCGGTTTTTTTGGAG	0.368													-	179535860	T	-	179535860	7	5	16	1	0	1	0	1	0	0	0	0	16732	1722	60	0	69271	0	TTN	2	179535860	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	36314	179535860	63663513	200	12522											
NCKAP1	10787	broad.mit.edu	37	chr2	183867725	183867725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaaagaagacttggcaaaCgtcaatagtattcagcaatt	7	7	3	2	rs142669044	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:183867725C>T	uc002upc.2	-	4	748	c.346G>A	c.(346-348)GTT>ATT	p.V116I	NCKAP1_uc002upb.2_Missense_Mutation_p.V122I	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	116					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ACTTGGCAAACGTCAATAGTA	0.313													T	183867725	C	T	183867725	3	4	16	1	0	0	0	0	1	0	0	0	10221	536	19	1	3152	1	NCKAP1	2	183867725	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	4331865	183867725	59331648	201	12523											
ZSWIM2	151112	broad.mit.edu	37	chr2	187698688	187698688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtacctcacgaaatgtaaaCgtgtgggaaagatggcagca	12	7	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:187698688C>T	uc002upu.1	-	6	853	c.813G>A	c.(811-813)ACG>ACA	p.T271T		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	271	ZZ-type.				apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GAAATGTAAACGTGTGGGAAA	0.363													T	187698688	C	T	187698688	2	4	16	1	0	0	0	0	0	0	0	1	18238	523	19	1		1	ZSWIM2	2	187698688	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3830963	187698688	55500685	202	12524											
MFSD6	54842	broad.mit.edu	37	chr2	191301046	191301046	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtattacaaacagctgggAatgtctccaagccagagtgg	12	8	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:191301046A>G	uc002urz.2	+	3	615	c.291A>G	c.(289-291)GGA>GGG	p.G97G		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	97					transmembrane transport	integral to membrane				ovary(2)	2						AACAGCTGGGAATGTCTCCAA	0.413													G	191301046	A	G	191301046	2	3	16	1	0	0	0	0	0	0	0	1	9535	233	9	3		3	MFSD6	2	191301046	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	3602358	191301046	51898327	203	12525											
STAT1	6772	broad.mit.edu	37	chr2	191850352	191850352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggactctcacctcattcGttctggtgccagcatttttc	8	12	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:191850352G>A	uc002usj.2	-	15	1644	c.1256C>T	c.(1255-1257)ACG>ATG	p.T419M	STAT1_uc010fse.1_Missense_Mutation_p.T419M|STAT1_uc002usk.2_Missense_Mutation_p.T419M|STAT1_uc002usl.2_Missense_Mutation_p.T421M|STAT1_uc010fsf.1_Missense_Mutation_p.T231M	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	419					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	CACCTCATTCGTTCTGGTGCC	0.433													A	191850352	G	A	191850352	3	1	16	1	0	0	0	0	1	0	0	0	15263	1145	40	1	1044	1	STAT1	2	191850352	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	549306	191850352	51349021	204	12526											
GTF3C3	9330	broad.mit.edu	37	chr2	197650315	197650315	+	Splice_Site	DEL	A	A	-													ttggcttcatagtaactcctAaaaaaaagtggcaaaatgga					rs35643383		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:197650314_197650314TA>T	uc002uts.3	-	7	1051	c.894_splice	c.e7-1	p.K298_splice	GTF3C3_uc010zgu.2_Splice_Site_p.K298_splice|GTF3C3_uc002utu.3_Splice_Site_p.K298_splice|GTF3C3_uc002utt.4_Splice_Site	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	298						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TAGTAACTCCTAAAAAAAAGT	0.323													-	197650315	A	-	197650315	8	5	16	1	0	1	0	1	0	0	1	0	6874	377	13	0		0	GTF3C3	2	197650315	Splice_Site	DEL	A	TCGA-BR-4292-01A-01D-1126-08	5799963	197650315	45549058	205	12527											
PLCL1	5334	broad.mit.edu	37	chr2	198950564	198950564	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacagcaaaacagtgatAatcctatttttgatgaaact	6	7	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:198950564A>G	uc010fsp.2	+	2	2614	c.2323A>G	c.(2323-2325)AAT>GAT	p.N775D	PLCL1_uc002uuv.3_Missense_Mutation_p.N696D	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	775	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	AAACAGTGATAATCCTATTTT	0.398													G	198950564	A	G	198950564	3	3	16	1	0	0	0	0	1	0	0	0	12039	362	13	3	2329	3	PLCL1	2	198950564	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	1300249	198950564	44248809	206	12528											
PLCL1	5334	broad.mit.edu	37	chr2	198950794	198950794	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagcaataactaatcgaagTggaggaggaaaggcacagaa	12	5	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:198950794T>C	uc010fsp.2	+	2	2844	c.2553T>C	c.(2551-2553)AGT>AGC	p.S851S	PLCL1_uc002uuv.3_Silent_p.S772S	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	851					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	CTAATCGAAGTGGAGGAGGAA	0.463													C	198950794	T	C	198950794	2	2	16	1	0	0	0	0	0	0	0	1	12039	1693	59	3		3	PLCL1	2	198950794	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	230	198950794	44248579	207	12529											
PLCL1	5334	broad.mit.edu	37	chr2	199011601	199011601	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggactgagtaaagcccCcagcagcagtgctgaggcca	13	12	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:199011601C>A	uc010fsp.2	+	6	3494	c.3203C>A	c.(3202-3204)CCC>CAC	p.P1068H	PLCL1_uc002uuv.3_Missense_Mutation_p.P989H	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	1068					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	AGTAAAGCCCCCAGCAGCAGT	0.517													A	199011601	C	A	199011601	3	1	16	1	0	0	0	0	1	0	0	0	12039	623	22	5	3225	5	PLCL1	2	199011601	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	60807	199011601	44187772	208	12530											
C2orf69	205327	broad.mit.edu	37	chr2	200790166	200790167	+	Frame_Shift_Ins	INS	-	-	A													agaaaaagtgaggacctgtgINSaaaaatctgatgagtctgcc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:200790166_200790167insA	uc010zhb.1	+	2	898_899	c.715_716insA	c.(715-717)GAAfs	p.E239fs		NM_153689	NP_710156	Q8N8R5	CB069_HUMAN	hypothetical protein LOC205327 precursor	239						extracellular region				central_nervous_system(1)	1						GAGGACCTGTGAAAAATCTGAT	0.386													A	200790167	-	A	200790166	7	5	16	1	0	1	1	0	0	0	0	0	2188	1291	45	0	721	0	C2orf69	2	200790166	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1778565	200790166	42409207	209	12531	33	2									
C2orf69	205327	broad.mit.edu	37	chr2	200790167	200790168	+	Frame_Shift_Ins	INS	-	-	A													gaaaaagtgaggacctgtgaINSaaaatctgatgagtctgcca							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:200790166_200790167G>GA	uc010zhb.2	+	1	898_899	c.715_716G>GA	c.(715-717)gaafs	p.E239fs		NM_153689	NP_710156	Q8N8R5	CB069_HUMAN	Homo sapiens chromosome 2 open reading frame 69 (C2orf69), mRNA.	239						extracellular region				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						GAGGACCTGTGAAAAATCTGAT	0.386													A	200790168	-	A	200790167	7	5	16	1	0	1	1	0	0	0	0	0	2188	246	9	0	722	0	C2orf69	2	200790167	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1	200790167	42409206	210	12532	33	2									
CASP8	841	broad.mit.edu	37	chr2	202151290	202151290	+	Frame_Shift_Del	DEL	A	A	-													cagcctactttcacactaagAaaaaaacttgtcttcccttc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:202151289_202151289GA>G	uc002uxr.1	+	9	1621	c.1412_1412GA>G	c.(1411-1413)agafs	p.R471fs	CASP8_uc002uxq.1_Frame_Shift_Del_p.R456fs|CASP8_uc002uxp.1_Frame_Shift_Del_p.R488fs|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Frame_Shift_Del_p.R530fs|CASP8_uc002uxw.1_Frame_Shift_Del_p.R456fs|CASP8_uc010ftf.2_Frame_Shift_Del_p.R387fs	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	471					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TTCACACTAAGAAAAAAACTT	0.398										HNSCC(4;0.00038)			-	202151290	A	-	202151290	7	5	16	1	0	1	0	1	0	0	0	0	2677	243	9	0	1724	0	CASP8	2	202151290	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	1361123	202151290	41048083	211	12533											
ALS2	57679	broad.mit.edu	37	chr2	202625614	202625614	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggtacctgagatggcActggcttttcaccatgctct	11	11	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:202625614A>G	uc002uyo.2	-	4	1459	c.1103T>C	c.(1102-1104)GTG>GCG	p.V368A	ALS2_uc002uyp.3_Missense_Mutation_p.V368A|ALS2_uc002uyq.2_Missense_Mutation_p.V368A|ALS2_uc002uyr.2_Missense_Mutation_p.V368A	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	368					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7						CTGAGATGGCACTGGCTTTTC	0.398													G	202625614	A	G	202625614	3	3	16	1	0	0	0	0	1	0	0	0	550	159	6	3	4072	3	ALS2	2	202625614	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	474324	202625614	40573759	212	12534											
CREB1	1385	broad.mit.edu	37	chr2	208424959	208424959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaccataggtatctatgCcagcagctcatgcaacatca	6	13	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:208424959C>T	uc002vcc.2	+	3	375	c.124C>T	c.(124-126)CCA>TCA	p.P42S	CREB1_uc010ziz.1_Missense_Mutation_p.P40S|CREB1_uc002vcd.2_Missense_Mutation_p.P42S|CREB1_uc010zja.1_RNA	NM_134442	NP_604391	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	42					activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(42)	soft_tissue(42)|breast(1)|central_nervous_system(1)	44				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	GGTATCTATGCCAGCAGCTCA	0.448			T	EWSR1	clear cell sarcoma|angiomatoid fibrous histiocytoma								T	208424959	C	T	208424959	3	4	16	1	0	0	0	0	1	0	0	0	3854	739	26	2	130	2	CREB1	2	208424959	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	5799345	208424959	34774414	213	12535											
CRYGD	1421	broad.mit.edu	37	chr2	209025577	209025578	+	Frame_Shift_Ins	INS	-	-	C													gccgactttggcatctgcacINSccccccagtcgtggtacctt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:209025576_209025577A>AC	uc002vcq.4	-	2	493_494	c.476_477T>GT	c.(475-477)ggtfs	p.G159fs	CRYGD_uc021vvu.1_Intron	NM_014617	NP_055432	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma A (CRYGA), mRNA.	159	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TGGCATCTGCACCCCCCCAGTC	0.53													C	209025578	-	C	209025577	7	5	16	1	0	1	1	0	0	0	0	0	3917	507	18	0		0	CRYGD	2	209025577	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	600618	209025577	34173796	214	12536											
ERBB4	2066	broad.mit.edu	37	chr2	212288881	212288882	+	Splice_Site	INS	-	-	T													attattttgcagtcttacatINSttgaccatgaccatgtaaac							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:212288880_212288881A>AT	uc002veg.1	-	23	2964	c.2866_splice	c.e23+1	p.C956_splice	ERBB4_uc002veh.1_Splice_Site_p.C956_splice|ERBB4_uc010zji.1_Splice_Site_p.C946_splice|ERBB4_uc010zjj.1_Splice_Site_p.C946_splice	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	956	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCAGTCTTACATTTGACCATGA	0.366										TSP Lung(8;0.080)			T	212288882	-	T	212288881	8	5	16	1	0	1	1	0	0	0	1	0	5209	1507	52	0	1085	0	ERBB4	2	212288881	Splice_Site	INS	-	TCGA-BR-4292-01A-01D-1126-08	3263304	212288881	30910492	215	12537											
ERBB4	2066	broad.mit.edu	37	chr2	213403254	213403254	+	Frame_Shift_Del	DEL	T	T	-													aagtcctgtcgccggcttcaTtttttggaagtctcagatcc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:213403254delT	uc002veg.1	-	1	99	c.1delA	c.(1-3)ATGfs	p.M1fs	ERBB4_uc002veh.1_Frame_Shift_Del_p.M1fs|ERBB4_uc010zji.1_Frame_Shift_Del_p.M1fs|ERBB4_uc010zjj.1_Frame_Shift_Del_p.M1fs|ERBB4_uc010fut.1_Frame_Shift_Del_p.M1fs	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCCGGCTTCATTTTTTGGAAG	0.537										TSP Lung(8;0.080)			-	213403254	T	-	213403254	7	5	16	1	0	1	0	1	0	0	0	0	5209	1493	52	0	4037	0	ERBB4	2	213403254	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	1114373	213403254	29796119	216	12538											
IKZF2	22807	broad.mit.edu	37	chr2	213872376	213872376	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtaagctgggctttgtttcCtcttgggatttaaggcaggg	14	6	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:213872376C>A	uc002vem.2	-	8	1458	c.1289G>T	c.(1288-1290)AGG>ATG	p.R430M	IKZF2_uc010fuu.2_Missense_Mutation_p.R285M|IKZF2_uc002vej.2_Missense_Mutation_p.R377M|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.R356M|IKZF2_uc002vel.2_Missense_Mutation_p.R351M|IKZF2_uc010fuw.2_Missense_Mutation_p.R204M|IKZF2_uc010fux.2_Missense_Mutation_p.R204M|IKZF2_uc010fuy.2_Missense_Mutation_p.R358M|IKZF2_uc002ven.2_Missense_Mutation_p.R404M|IKZF2_uc002vei.2_Missense_Mutation_p.R208M	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	helios isoform 1	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GCTTTGTTTCCTCTTGGGATT	0.502													A	213872376	C	A	213872376	3	1	16	1	0	0	0	0	1	0	0	0	7615	681	24	5	295	5	IKZF2	2	213872376	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	469122	213872376	29326997	217	12539											
SMARCAL1	50485	broad.mit.edu	37	chr2	217315720	217315720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggtgattgccccaggacGgatcaatgccaggaccagag	14	10	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:217315720G>A	uc002vgc.3	+	12	2333	c.2003G>A	c.(2002-2004)CGG>CAG	p.R668Q	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.R668Q|SMARCAL1_uc010fvg.2_Missense_Mutation_p.R646Q	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	668					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GCCCCAGGACGGATCAATGCC	0.582									Schimke_Immuno-Osseous_Dysplasia				A	217315720	G	A	217315720	3	1	16	1	0	0	0	0	1	0	0	0	14773	1116	39	1	2041	1	SMARCAL1	2	217315720	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	3443344	217315720	25883653	218	12540											
TNS1	7145	broad.mit.edu	37	chr2	218678471	218678471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatggccagcccgtacgCgcctcggaaggagtgactgt	13	13	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:218678471C>T	uc002vgt.2	-	26	4884	c.4486G>A	c.(4486-4488)GCG>ACG	p.A1496T	TNS1_uc002vgr.2_Missense_Mutation_p.A1483T|TNS1_uc002vgs.2_Missense_Mutation_p.A1475T|TNS1_uc002vgq.2_5'UTR	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1496	SH2.					cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGCCCGTACGCGCCTCGGAAG	0.592													T	218678471	C	T	218678471	3	4	16	1	0	0	0	0	1	0	0	0	16340	768	27	1	753	1	TNS1	2	218678471	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1362751	218678471	24520902	219	12541											
C2orf62	375307	broad.mit.edu	37	chr2	219229425	219229425	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtggagcagactgtccaCgcggaggagggcatccccat	14	12	0	1	rs142758364		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:219229425C>T	uc002vhr.2	+	7	734	c.705C>T	c.(703-705)CAC>CAT	p.H235H	C2orf62_uc002vhs.2_Intron	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	hypothetical protein LOC375307	235											0		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGACTGTCCACGCGGAGGAGG	0.597													T	219229425	C	T	219229425	2	4	16	1	0	0	0	0	0	0	0	1	2181	535	19	1		1	C2orf62	2	219229425	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	550954	219229425	23969948	220	12542											
STK36	27148	broad.mit.edu	37	chr2	219561885	219561885	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacaggaaggggagctttcgCtatccagtccaccaagccct	10	14	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:219561885C>A	uc002viu.2	+	23	2976	c.2710C>A	c.(2710-2712)CTA>ATA	p.L904I	STK36_uc002viv.2_Missense_Mutation_p.L883I|STK36_uc002viw.2_Missense_Mutation_p.L82I|STK36_uc002vix.2_5'UTR	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	904					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GGAGCTTTCGCTATCCAGTCC	0.522													A	219561885	C	A	219561885	3	1	16	1	0	0	0	0	1	0	0	0	15301	796	28	5	2796	5	STK36	2	219561885	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	332460	219561885	23637488	221	12543											
CCDC108	255101	broad.mit.edu	37	chr2	219893021	219893021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtagagcgtcaggccccGggccaggtgtgtgcggtacc	19	11	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:219893021G>A	uc002vjl.1	-	12	1837	c.1753C>T	c.(1753-1755)CGG>TGG	p.R585W	CCDC108_uc010fwa.1_Missense_Mutation_p.R28W|CCDC108_uc010zkp.1_Missense_Mutation_p.R574W|CCDC108_uc010zkq.1_Missense_Mutation_p.R520W	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	585						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCAGGCCCCGGGCCAGGTGT	0.622													A	219893021	G	A	219893021	3	1	16	1	0	0	0	0	1	0	0	0	2743	1115	39	1	4120	1	CCDC108	2	219893021	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	331136	219893021	23306352	222	12544											
ACSL3	2181	broad.mit.edu	37	chr2	223791754	223791754	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctttgttttccggaaagttCgaagcttgctagggggaaat	13	6	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:223791754C>T	uc002vni.2	+	12	1763	c.1312C>T	c.(1312-1314)CGA>TGA	p.R438*	ACSL3_uc002vnj.2_Nonsense_Mutation_p.R438*	NM_004457	NP_004448	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	438	Cytoplasmic (Potential).				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			ovary(2)	2		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	CCGGAAAGTTCGAAGCTTGCT	0.303			T	ETV1	prostate								T	223791754	C	T	223791754	4	4	16	1	0	0	0	0	0	1	0	0	178	876	31	1	1346	1	ACSL3	2	223791754	Nonsense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3898733	223791754	19407619	223	12545											
KIAA1486	57624	broad.mit.edu	37	chr2	226447629	226447629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacacctacggggcagcccCgggtggctcccggtcccgga	15	16	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:226447629C>T	uc002voe.2	+	4	1671	c.1496C>T	c.(1495-1497)CCG>CTG	p.P499L	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.P269L	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	499										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		GGGGCAGCCCCGGGTGGCTCC	0.687													T	226447629	C	T	226447629	3	4	16	1	0	0	0	0	1	0	0	0	8237	652	23	1	1506	1	KIAA1486	2	226447629	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2655875	226447629	16751744	224	12546											
ALPI	248	broad.mit.edu	37	chr2	233323610	233323610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcggcggtgcccctgtcGtccgagacccacggaggcga	16	15	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:233323610G>A	uc002vst.3	+	11	1418	c.1341G>A	c.(1339-1341)TCG>TCA	p.S447S	ALPI_uc002vsu.3_Silent_p.S358S	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	447					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGCCCCTGTCGTCCGAGACCC	0.692													A	233323610	G	A	233323610	2	1	16	1	0	0	0	0	0	0	0	1	543	1132	40	1		1	ALPI	2	233323610	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	6875981	233323610	9875763	225	12547											
CHRND	1144	broad.mit.edu	37	chr2	233393281	233393281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actacggcttcgtgtactggCtgccacctgccatcttccgc	9	16	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:233393281C>T	uc002vsw.2	+	5	428	c.424C>T	c.(424-426)CTG>TTG	p.L142L	CHRND_uc010zmg.1_Silent_p.L127L|CHRND_uc010fyc.2_Silent_p.G51G|CHRND_uc010zmh.1_Silent_p.G51G	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	142	Extracellular (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)|skin(1)	3		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CGTGTACTGGCTGCCACCTGC	0.562													T	233393281	C	T	233393281	2	4	16	1	0	0	0	0	0	0	0	1	3394	796	28	2		2	CHRND	2	233393281	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	69671	233393281	9806092	226	12548											
COL6A3	1293	broad.mit.edu	37	chr2	238233452	238233452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgatgactccgggtttggCgagcactgagcgtcgagaga	15	9	0	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:238233452C>T	uc002vwl.2	-	44	9784	c.9499G>A	c.(9499-9501)GCC>ACC	p.A3167T	COL6A3_uc002vwo.2_Missense_Mutation_p.A2961T|COL6A3_uc010znj.1_Missense_Mutation_p.A2560T|COL6A3_uc002vwj.2_Missense_Mutation_p.A548T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	3167	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCGGGTTTGGCGAGCACTGAG	0.537													T	238233452	C	T	238233452	3	4	16	1	0	0	0	0	1	0	0	0	3701	768	27	1	38	1	COL6A3	2	238233452	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	4840171	238233452	4965921	227	12549											
COL6A3	1293	broad.mit.edu	37	chr2	238253700	238253700	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagaaaatcatgtacttaCggcatttatctttgatgctt	6	7	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:238253700C>T	uc002vwl.2	-	34	7447	c.7162_splice	c.e34+1	p.P2388_splice	COL6A3_uc002vwo.2_Splice_Site_p.P2182_splice|COL6A3_uc010znj.1_Splice_Site_p.P1781_splice|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Splice_Site_p.P209_splice	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor						axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CATGTACTTACGGCATTTATC	0.343													T	238253700	C	T	238253700	5	4	16	1	0	0	0	0	0	0	1	0	3701	550	19	1	2414	1	COL6A3	2	238253700	Splice_Site	SNP	C	TCGA-BR-4292-01A-01D-1126-08	20248	238253700	4945673	228	12550											
COL6A3	1293	broad.mit.edu	37	chr2	238277739	238277739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caatcctgctaacaaaatctCgaatatgtgcaaagccatct	5	11	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:238277739C>T	uc002vwl.2	-	10	4652	c.4367G>A	c.(4366-4368)CGA>CAA	p.R1456Q	COL6A3_uc002vwo.2_Missense_Mutation_p.R1250Q|COL6A3_uc010znj.1_Missense_Mutation_p.R849Q	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1456	VWFA 8.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AACAAAATCTCGAATATGTGC	0.458													T	238277739	C	T	238277739	3	4	16	1	0	0	0	0	1	0	0	0	3701	884	31	1	5306	1	COL6A3	2	238277739	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	24039	238277739	4921634	229	12551											
MYEOV2	150678	broad.mit.edu	37	chr2	241066179	241066179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacttggattggttcttcCgtaaactgtttcttaagcgt	9	9	2	0	rs140948790		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:241066179C>T	uc002vyu.1	-	5	560	c.560G>A	c.(559-561)CGG>CAG	p.R187Q		NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN	hypothetical protein LOC150678 isoform 1	Error:Variant_position_missing_in_Q8WXC6_after_alignment											0		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TTGGTTCTTCCGTAAACTGTT	0.483													T	241066179	C	T	241066179	3	4	16	1	0	0	0	0	1	0	0	0	10026	652	23	1	202	1	MYEOV2	2	241066179	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2788440	241066179	2133194	230	12552											
ANKMY1	51281	broad.mit.edu	37	chr2	241492466	241492466	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtcccggtaaaactgcccAtggtatgactgtgagatgga	13	8	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:241492466A>G	uc002vyz.1	-	3	307	c.78T>C	c.(76-78)CAT>CAC	p.H26H	ANKMY1_uc002vza.1_Silent_p.H115H|ANKMY1_uc010fzd.1_Silent_p.H115H|ANKMY1_uc002vzb.1_Silent_p.H115H|ANKMY1_uc002vzc.1_Silent_p.H115H|ANKMY1_uc002vzd.1_Silent_p.H115H|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_Silent_p.H17H|ANKMY1_uc002vzf.2_Silent_p.H17H	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	26	MORN 2.						zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AAAACTGCCCATGGTATGACT	0.552													G	241492466	A	G	241492466	2	3	16	1	0	0	0	0	0	0	0	1	634	214	8	3		3	ANKMY1	2	241492466	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	426287	241492466	1706907	231	12553											
GPR35	2859	broad.mit.edu	37	chr2	241569453	241569453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttctacgcctacttgggCgtcctgctggtgctaggcct	13	13	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:241569453C>T	uc002vzs.1	+	1	659	c.84C>T	c.(82-84)GGC>GGT	p.G28G	GPR35_uc010fzh.1_Silent_p.G59G|GPR35_uc010fzi.1_Silent_p.G59G	NM_005301	NP_005292	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	28	Helical; Name=1; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(2)|pancreas(1)	3		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CCTACTTGGGCGTCCTGCTGG	0.627													T	241569453	C	T	241569453	2	4	16	1	0	0	0	0	0	0	0	1	6690	755	27	1		1	GPR35	2	241569453	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	76987	241569453	1629920	232	12554											
C2orf54	79919	broad.mit.edu	37	chr2	241831149	241831149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaaggacaggtggagctgCtcctccctcaggctggccgc	14	14	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:241831149C>T	uc002wae.3	-	2	705	c.546G>A	c.(544-546)GAG>GAA	p.E182E	C2orf54_uc002wac.2_Silent_p.E14E|C2orf54_uc002wad.2_Silent_p.E33E	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	hypothetical protein LOC79919 isoform 1	182											0		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GGTGGAGCTGCTCCTCCCTCA	0.652													T	241831149	C	T	241831149	2	4	16	1	0	0	0	0	0	0	0	1	2175	796	28	2		2	C2orf54	2	241831149	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	261696	241831149	1368224	233	12555											
STK25	10494	broad.mit.edu	37	chr2	242439681	242439681	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaatgtatgtctcctccaGgggacctggtttaagctgga	13	9	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:242439681G>T	uc002wbm.2	-	4	605	c.334C>A	c.(334-336)CTG>ATG	p.L112M	STK25_uc002wbk.2_5'Flank|STK25_uc002wbl.2_5'Flank|STK25_uc002wbn.2_Missense_Mutation_p.L112M|STK25_uc002wbo.2_Missense_Mutation_p.L35M|STK25_uc010zos.1_Missense_Mutation_p.L18M|STK25_uc010zot.1_Missense_Mutation_p.L38M|STK25_uc002wbp.2_Missense_Mutation_p.L112M|STK25_uc010fzo.2_Missense_Mutation_p.L35M|STK25_uc010zou.1_Missense_Mutation_p.L18M|STK25_uc010zov.1_Missense_Mutation_p.L18M|STK25_uc010zow.1_Missense_Mutation_p.L112M	NM_006374	NP_006365	O00506	STK25_HUMAN	serine/threonine kinase 25	112	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GTCTCCTCCAGGGGACCTGGT	0.582													T	242439681	G	T	242439681	3	4	16	1	0	0	0	0	1	0	0	0	15293	991	35	5	978	5	STK25	2	242439681	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	608532	242439681	759692	234	12556											
C2orf85	285093	broad.mit.edu	37	chr2	242815105	242815105	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgccgagggccccatcacGgttagtgagggctgcatcac	13	12	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr2:242815105G>A	uc010fzu.1	+	2	1421	c.1398G>A	c.(1396-1398)ACG>ACA	p.T466T		NM_173821	NP_776182	Q14D33	CB085_HUMAN	hypothetical protein LOC285093	466						integral to membrane				ovary(1)	1						GCCCCATCACGGTTAGTGAGG	0.612													A	242815105	G	A	242815105	2	1	16	1	0	0	0	0	0	0	0	1	2200	1103	39	1		1	C2orf85	2	242815105	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	375424	242815105	384268	235	12557											
GRM7	2917	broad.mit.edu	37	chr3	7503408	7503408	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacagacgaacttcagctcaAtgtgagttctgcttgcttct	9	10	4	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:7503408A>T	uc003bqm.2	+	7	1788	c.1514A>T	c.(1513-1515)AAT>ATT	p.N505I	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.N505I|GRM7_uc003bql.2_Missense_Mutation_p.N505I|GRM7_uc003bqn.1_Missense_Mutation_p.N88I|GRM7_uc010hch.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	505	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	CTTCAGCTCAATGTGAGTTCT	0.443													T	7503408	A	T	7503408	3	4	16	1	0	0	0	0	1	0	0	0	6802	115	4	5	1540	5	GRM7	3	7503408	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08		7503408	190519022	236	12558											
C3orf20	84077	broad.mit.edu	37	chr3	14802989	14802990	+	Frame_Shift_Ins	INS	-	-	G													ctgtcaacagatgtttgccgINSgggggaagctcatttttggg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:14802988_14802989C>CG	uc003byy.3	+	14	2813_2814	c.2361_2362C>CG	c.(2359-2364)gccgggfs	p.A787fs	C3orf20_uc003byz.3_Frame_Shift_Ins_p.A665fs|C3orf20_uc003bza.3_Frame_Shift_Ins_p.A665fs|C3orf20_uc003bzb.1_Frame_Shift_Ins_p.A288fs|C3orf20_uc011avj.2_Frame_Shift_Ins_p.A114fs	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	787						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGATGTTTGCCGGGGGGAAGCT	0.47													G	14802990	-	G	14802989	7	5	16	1	0	1	1	0	0	0	0	0	2213	1116	39	0	2412	0	C3orf20	3	14802989	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	7299581	14802989	183219441	237	12559											
RFTN1	23180	broad.mit.edu	37	chr3	16358730	16358730	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttcttctctggagaatcGccactgaaactagaaatcag	7	10	3	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:16358730G>A	uc003cay.2	-	10	1624	c.1342C>T	c.(1342-1344)CGA>TGA	p.R448*	RFTN1_uc010hes.2_Nonsense_Mutation_p.R412*|OXNAD1_uc003cax.2_Intron|OXNAD1_uc011awb.1_Intron	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	448						plasma membrane		p.R448*(1)		ovary(3)|central_nervous_system(1)	4						CTGGAGAATCGCCACTGAAAC	0.438													A	16358730	G	A	16358730	4	1	16	1	0	0	0	0	0	1	0	0	13258	1095	38	1	398	1	RFTN1	3	16358730	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1555741	16358730	181663700	238	12560											
PLCL2	23228	broad.mit.edu	37	chr3	17051544	17051544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatttggttgccaactccGcagatgttgcaaacatctgg	11	9	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:17051544G>A	uc011awc.1	+	5	787	c.682G>A	c.(682-684)GCA>ACA	p.A228T	PLCL2_uc010het.1_Missense_Mutation_p.A110T|PLCL2_uc011awd.1_Missense_Mutation_p.A110T	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 1	236	PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(2)|ovary(1)|lung(1)	4						TGCCAACTCCGCAGATGTTGC	0.413													A	17051544	G	A	17051544	3	1	16	1	0	0	0	0	1	0	0	0	12040	1087	38	1	706	1	PLCL2	3	17051544	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	692814	17051544	180970886	239	12561											
RAB5A	5868	broad.mit.edu	37	chr3	20025266	20025266	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccagaggaagaggagtagAccttaccgaacccacacaac	10	12	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:20025266A>G	uc003cbn.2	+	6	1134	c.599A>G	c.(598-600)GAC>GGC	p.D200G	RAB5A_uc010hey.2_RNA|RAB5A_uc011awg.1_Missense_Mutation_p.D186G|C3orf48_uc010hez.2_Intron	NM_004162	NP_004153	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	200					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity				0						AGAGGAGTAGACCTTACCGAA	0.368													G	20025266	A	G	20025266	3	3	16	1	0	0	0	0	1	0	0	0	12948	275	10	3	617	3	RAB5A	3	20025266	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	2973722	20025266	177997164	240	12562											
KAT2B	8850	broad.mit.edu	37	chr3	20153198	20153198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtcttcactgttatgaggcGacaactcctggaacaagcaa	10	10	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:20153198G>A	uc003cbq.2	+	6	1408	c.962G>A	c.(961-963)CGA>CAA	p.R321Q		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	321					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GTTATGAGGCGACAACTCCTG	0.463													A	20153198	G	A	20153198	3	1	16	1	0	0	0	0	1	0	0	0	7982	1058	37	1	984	1	KAT2B	3	20153198	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	127932	20153198	177869232	241	12563											
SGOL1	151648	broad.mit.edu	37	chr3	20225413	20225413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagctataaaagacctgCgtttgccaatctctgccaag	9	11	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:20225413C>T	uc003cbs.2	-	2	294	c.107G>A	c.(106-108)CGC>CAC	p.R36H	SGOL1_uc003cbr.2_Missense_Mutation_p.R36H|SGOL1_uc010hfa.2_Missense_Mutation_p.R36H|SGOL1_uc003cbt.2_Missense_Mutation_p.R36H|SGOL1_uc003cbu.2_Missense_Mutation_p.R36H|SGOL1_uc003cbv.2_Missense_Mutation_p.R36H|SGOL1_uc003cbw.2_Missense_Mutation_p.R36H|SGOL1_uc003cbx.2_Missense_Mutation_p.R36H|SGOL1_uc003cby.2_Missense_Mutation_p.R36H|SGOL1_uc003cbz.2_Missense_Mutation_p.R36H|SGOL1_uc003cca.2_Missense_Mutation_p.R36H|SGOL1_uc003ccb.2_Missense_Mutation_p.R36H|SGOL1_uc003ccc.2_Missense_Mutation_p.R36H	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 isoform A2	36	Potential.|Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding				0						AAAAGACCTGCGTTTGCCAAT	0.318													T	20225413	C	T	20225413	3	4	16	1	0	0	0	0	1	0	0	0	14216	768	27	1	1630	1	SGOL1	3	20225413	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	72215	20225413	177797017	242	12564											
TOP2B	7155	broad.mit.edu	37	chr3	25670433	25670433	+	Frame_Shift_Del	DEL	T	T	-													agaaggaaagttcctgcttaTttttgcttgccttaaattaa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:25670433delT	uc011awn.1	-	15	1854	c.1811delA	c.(1810-1812)AATfs	p.N604fs	TOP2B_uc003cdj.2_Frame_Shift_Del_p.N599fs	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	604					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						TTCCTGCTTATTTTTGCTTGC	0.279													-	25670433	T	-	25670433	7	5	16	1	0	1	0	1	0	0	0	0	16363	1493	52	0	3157	0	TOP2B	3	25670433	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	5445020	25670433	172351997	243	12565											
PDCD6IP	10015	broad.mit.edu	37	chr3	33877588	33877588	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcgctatgatgaatatgttaAtgtgaaggatttttctgaca	9	4	1	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:33877588A>T	uc003cfx.2	+	8	1042	c.887A>T	c.(886-888)AAT>ATT	p.N296I	PDCD6IP_uc003cfy.2_Missense_Mutation_p.N301I|PDCD6IP_uc011axw.1_Missense_Mutation_p.N77I	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	296	Interaction with EIAV p9.|Interaction with CHMP4A, CHMP4B and CHMP4C.|BRO1.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2						GAATATGTTAATGTGAAGGAT	0.358													T	33877588	A	T	33877588	3	4	16	1	0	0	0	0	1	0	0	0	11624	101	4	5	932	5	PDCD6IP	3	33877588	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	8207155	33877588	164144842	244	12566											
LRRFIP2	9209	broad.mit.edu	37	chr3	37170567	37170567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaattacctctttttgttgtCgttccagttctctcatgcgt	6	10	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:37170567C>T	uc003cgp.2	-	4	587	c.164G>A	c.(163-165)CGA>CAA	p.R55Q	LRRFIP2_uc011ayf.1_Missense_Mutation_p.R55Q|LRRFIP2_uc003cgr.2_Missense_Mutation_p.R55Q|LRRFIP2_uc003cgs.3_Missense_Mutation_p.R55Q|LRRFIP2_uc003cgt.3_Missense_Mutation_p.R55Q	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting	55	DVL3-binding.				Wnt receptor signaling pathway		LRR domain binding			ovary(1)	1						TTTTTGTTGTCGTTCCAGTTC	0.428													T	37170567	C	T	37170567	3	4	16	1	0	0	0	0	1	0	0	0	9028	884	31	1	2105	1	LRRFIP2	3	37170567	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3292979	37170567	160851863	245	12567											
XYLB	9942	broad.mit.edu	37	chr3	38414150	38414150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccccgtccctcagggagCcatttcttcctactacgtcc	7	17	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:38414150C>T	uc003cic.2	+	10	879	c.770C>T	c.(769-771)GCC>GTC	p.A257V	XYLB_uc011ayp.1_Missense_Mutation_p.A120V|XYLB_uc003cid.1_Missense_Mutation_p.A179V	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	257					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CCTCAGGGAGCCATTTCTTCC	0.572													T	38414150	C	T	38414150	3	4	16	1	0	0	0	0	1	0	0	0	17459	739	26	2	808	2	XYLB	3	38414150	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1243583	38414150	159608280	246	12568											
SCN11A	11280	broad.mit.edu	37	chr3	38949441	38949442	+	Splice_Site	INS	-	-	T													tccctggaaaagacttacctINSttttttggcaatcttcatca							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:38949440_38949441C>CT	uc021wvy.1	-	10	1672	c.1473_splice	c.e10+1	p.K491_splice		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	491					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAAGACTTACCTTTTTTTGGCA	0.386													T	38949442	-	T	38949441	8	5	16	1	0	1	1	0	0	0	1	0	13913	1623	56	0	3971	0	SCN11A	3	38949441	Splice_Site	INS	-	TCGA-BR-4292-01A-01D-1126-08	535291	38949441	159072989	247	12569											
SCN11A	11280	broad.mit.edu	37	chr3	38962726	38962726	+	Frame_Shift_Del	DEL	C	C	-													cttcacagagcgtagcaaggCccccacgatgaccttcagac							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:38962725_38962725GC>G	uc021wvy.1	-	5	933	c.734_734GC>C	c.(733-735)gccfs	p.A245fs		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	245					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A245A(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCGTAGCAAGGCCCCCACGAT	0.537													-	38962726	C	-	38962726	7	5	16	1	0	1	0	1	0	0	0	0	13913	739	26	0	4726	0	SCN11A	3	38962726	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	13285	38962726	159059704	248	12570											
ZNF167	55888	broad.mit.edu	37	chr3	44612793	44612793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggaaagcctttagtcagCgttccacttttaatcaccac	8	11	2	0	rs148767433		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:44612793C>T	uc010hin.2	+	6	2579	c.2191C>T	c.(2191-2193)CGT>TGT	p.R731C	ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.R731C|ZNF167_uc003cnk.2_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	731	C2H2-type 13.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		CTTTAGTCAGCGTTCCACTTT	0.463													T	44612793	C	T	44612793	3	4	16	1	0	0	0	0	1	0	0	0	17738	768	27	1	2209	1	ZNF167	3	44612793	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	5650067	44612793	153409637	249	12571											
KIF15	56992	broad.mit.edu	37	chr3	44879832	44879832	+	Frame_Shift_Del	DEL	A	A	-													aacatgctcacagaggcctcAaaaaaacactcggggctgct							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:44879831_44879831CA>C	uc003cnx.4	+	26	3385	c.3236_3236CA>C	c.(3235-3237)tcafs	p.S1079fs	KIF15_uc010hiq.3_Frame_Shift_Del_p.S982fs|KIF15_uc010hir.3_Frame_Shift_Del_p.S127fs	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	1079					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		ACAGAGGCCTCAAAAAAACAC	0.498													-	44879832	A	-	44879832	7	5	16	1	0	1	0	1	0	0	0	0	8277	117	5	0	3343	0	KIF15	3	44879832	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	267039	44879832	153142598	250	12572											
PTH1R	5745	broad.mit.edu	37	chr3	46943318	46943318	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaagctgcgggagaccaaCgccggccggtgtgacacacg	14	14	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:46943318C>T	uc003cqm.2	+	13	1382	c.1179C>T	c.(1177-1179)AAC>AAT	p.N393N	PTH1R_uc003cqn.2_Silent_p.N393N	NM_000316	NP_000307	Q03431	PTH1R_HUMAN	parathyroid hormone receptor 1 precursor	393	Cytoplasmic (Potential).					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)	1						GGGAGACCAACGCCGGCCGGT	0.642									Ollier_disease_/_Maffuci_syndrome				T	46943318	C	T	46943318	2	4	16	1	0	0	0	0	0	0	0	1	12758	535	19	1		1	PTH1R	3	46943318	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2063486	46943318	151079112	251	12573											
NBEAL2	23218	broad.mit.edu	37	chr3	47050494	47050494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagactgctcccggccgcGcctcccttgcccatgaaggt	10	18	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:47050494G>A	uc003cqp.2	+	53	8222	c.8043G>A	c.(8041-8043)GCG>GCA	p.A2681A	NRADDP_uc011bas.1_5'Flank|NBEAL2_uc010hjm.1_Silent_p.A2058A|NBEAL2_uc010hjn.1_Silent_p.A1047A|NBEAL2_uc010hjo.1_Silent_p.A241A	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2681							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCCCGGCCGCGCCTCCCTTGC	0.622													A	47050494	G	A	47050494	2	1	16	1	0	0	0	0	0	0	0	1	10189	1074	38	1		1	NBEAL2	3	47050494	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	107176	47050494	150971936	252	12574											
KIF9	64147	broad.mit.edu	37	chr3	47315092	47315092	+	Frame_Shift_Del	DEL	C	C	-													gtgcttgtaattctcagttgCccccatcatggtgtatgtct							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:47315092delC	uc010hjp.2	-	5	920	c.316delG	c.(316-318)GCAfs	p.A106fs	KIF9_uc003cqx.2_Frame_Shift_Del_p.A106fs|KIF9_uc003cqy.2_Frame_Shift_Del_p.A106fs|KIF9_uc011bat.1_Intron|KIF9_uc011bau.1_RNA	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN	kinesin family member 9 isoform 2	106	Kinesin-motor.				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TTCTCAGTTGCCCCCATCATG	0.557													-	47315092	C	-	47315092	7	5	16	1	0	1	0	1	0	0	0	0	8310	739	26	0	2128	0	KIF9	3	47315092	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	264598	47315092	150707338	253	12575											
ARIH2	10425	broad.mit.edu	37	chr3	49004710	49004710	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggacggcgtgggcgtgggTgagtctgccacaaaacttat	15	8	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:49004710T>C	uc003cvb.2	+	6	850	c.538_splice	c.e6+2	p.G180_splice	ARIH2_uc003cvc.2_Splice_Site_p.G180_splice|ARIH2_uc003cvf.2_Splice_Site_p.G98_splice|ARIH2_uc010hkl.2_Splice_Site_p.G180_splice	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2						developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TGGGCGTGGGTGAGTCTGCCA	0.488													C	49004710	T	C	49004710	5	2	16	1	0	0	0	0	0	0	1	0	924	1710	59	3	554	3	ARIH2	3	49004710	Splice_Site	SNP	T	TCGA-BR-4292-01A-01D-1126-08	1689618	49004710	149017720	254	12576											
LAMB2	3913	broad.mit.edu	37	chr3	49159606	49159606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtcagaccttgcccgccGtgcatcctgcagtagctgct	13	14	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:49159606G>A	uc003cwe.2	-	28	5070	c.4771C>T	c.(4771-4773)CGG>TGG	p.R1591W	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1591	Potential.|Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTTGCCCGCCGTGCATCCTGC	0.612													A	49159606	G	A	49159606	3	1	16	1	0	0	0	0	1	0	0	0	8611	1144	40	1	645	1	LAMB2	3	49159606	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	154896	49159606	148862824	255	12577											
AMIGO3	386724	broad.mit.edu	37	chr3	49756307	49756307	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccagctcaggtacggagaTgtgtcccagccggttggagg	17	10	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:49756307T>C	uc003cxj.2	-	1	932	c.592A>G	c.(592-594)ATC>GTC	p.I198V	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	198	Extracellular (Potential).|LRR 6.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGTACGGAGATGTGTCCCAGC	0.627											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	49756307	T	C	49756307	3	2	16	1	0	0	0	0	1	0	0	0	577	1464	51	3	926	3	AMIGO3	3	49756307	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	596701	49756307	148266123	256	12578											
CAMKV	79012	broad.mit.edu	37	chr3	49897038	49897038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctggagtgatgcttccatCggtggctggggtgacactgc	17	9	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:49897038C>T	uc003cxt.1	-	11	1412	c.1219G>A	c.(1219-1221)GAT>AAT	p.D407N	CAMKV_uc011bcy.1_Missense_Mutation_p.D332N|CAMKV_uc003cxv.1_Missense_Mutation_p.D379N|CAMKV_uc003cxw.1_Missense_Mutation_p.D239N|CAMKV_uc003cxx.1_Missense_Mutation_p.D239N|CAMKV_uc003cxu.2_Missense_Mutation_p.D376N|CAMKV_uc011bcz.1_Missense_Mutation_p.D339N|CAMKV_uc011bda.1_Missense_Mutation_p.D333N	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	407	Ala-rich.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ATGCTTCCATCGGTGGCTGGG	0.607													T	49897038	C	T	49897038	3	4	16	1	0	0	0	0	1	0	0	0	2608	884	31	1	290	1	CAMKV	3	49897038	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	140731	49897038	148125392	257	12579											
RBM6	10180	broad.mit.edu	37	chr3	50099537	50099537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaaagacagaggagtgaCgagggtaagaggaattgtta	15	2	0	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:50099537C>T	uc003cyc.2	+	15	2715	c.2582C>T	c.(2581-2583)ACG>ATG	p.T861M	RBM6_uc010hlc.1_Missense_Mutation_p.T380M|RBM6_uc003cyd.2_Missense_Mutation_p.T339M|RBM6_uc003cye.2_Missense_Mutation_p.T339M|RBM6_uc011bdi.1_Missense_Mutation_p.T203M|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	861					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGAGGAGTGACGAGGGTAAGA	0.378													T	50099537	C	T	50099537	3	4	16	1	0	0	0	0	1	0	0	0	13144	536	19	1	2636	1	RBM6	3	50099537	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	202499	50099537	147922893	258	12580											
SEMA3F	6405	broad.mit.edu	37	chr3	50211341	50211341	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgtgggcagcaaggactaCgtgctgtccctggacctgca	13	12	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:50211341C>T	uc003cyj.2	+	3	426	c.228C>T	c.(226-228)TAC>TAT	p.Y76Y	SEMA3F_uc003cyk.2_Silent_p.Y76Y	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	76	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GCAAGGACTACGTGCTGTCCC	0.617													T	50211341	C	T	50211341	2	4	16	1	0	0	0	0	0	0	0	1	14029	547	19	1		1	SEMA3F	3	50211341	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	111804	50211341	147811089	259	12581											
RASSF1	11186	broad.mit.edu	37	chr3	50369011	50369011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggccgtgacgctcagcgcGctcaaagagtgcaaacttgc	12	12	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:50369011G>A	uc003dad.1	-	4	882	c.751C>T	c.(751-753)CGC>TGC	p.R251C	RASSF1_uc003daa.1_Missense_Mutation_p.R96C|RASSF1_uc003dab.1_Missense_Mutation_p.R177C|RASSF1_uc003dac.2_Missense_Mutation_p.R96C|RASSF1_uc003dae.1_Missense_Mutation_p.R247C|RASSF1_uc010hlk.1_RNA|RASSF1_uc003daf.1_Missense_Mutation_p.R96C	NM_170714	NP_733832	Q9NS23	RASF1_HUMAN	Ras association domain family 1 isoform D	251	Ras-associating.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CGCTCAGCGCGCTCAAAGAGT	0.607													A	50369011	G	A	50369011	3	1	16	1	0	0	0	0	1	0	0	0	13084	1087	38	1	295	1	RASSF1	3	50369011	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	157670	50369011	147653419	260	12582											
GRM2	2912	broad.mit.edu	37	chr3	51746928	51746928	+	Frame_Shift_Del	DEL	G	G	-													ctgggtggccagtgatggttGgggggccctggagagtgtgg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:51746928delG	uc010hlv.2	+	3	1129	c.890delG	c.(889-891)TGGfs	p.W297fs	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	297	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	AGTGATGGTTGGGGGGCCCTG	0.642													-	51746928	G	-	51746928	7	5	16	1	0	1	0	1	0	0	0	0	6797	1357	47	0	896	0	GRM2	3	51746928	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	1377917	51746928	146275502	261	12583											
NISCH	11188	broad.mit.edu	37	chr3	52522196	52522196	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcggcgctcctgctgcgcGccctctgaggccgtcaagtc	14	16	2	1	rs113789685		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:52522196G>A	uc011beg.1	+	17	2760	c.2688G>A	c.(2686-2688)GCG>GCA	p.A896A	NISCH_uc003ded.3_Silent_p.A896A|NISCH_uc003dee.3_Silent_p.A385A|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	896					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCTGCTGCGCGCCCTCTGAGG	0.657													A	52522196	G	A	52522196	2	1	16	1	0	0	0	0	0	0	0	1	10432	1074	38	1		1	NISCH	3	52522196	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	775268	52522196	145500234	262	12584											
STAB1	23166	broad.mit.edu	37	chr3	52557277	52557277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgccacccagcggggtctcGacttcctggacttcctggat	11	14	1	0	rs137992546		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:52557277G>A	uc003dej.2	+	64	7134	c.7060G>A	c.(7060-7062)GAC>AAC	p.D2354N	STAB1_uc003dek.1_Missense_Mutation_p.D369N|STAB1_uc003del.2_Missense_Mutation_p.D241N	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	2354	Extracellular (Potential).|FAS1 7.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCGGGGTCTCGACTTCCTGGA	0.567													A	52557277	G	A	52557277	3	1	16	1	0	0	0	0	1	0	0	0	15236	1058	37	1	7314	1	STAB1	3	52557277	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	35081	52557277	145465153	263	12585											
PBRM1	55193	broad.mit.edu	37	chr3	52595936	52595936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccactcatgttgattttccGtttggagccttccttctttg	8	11	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:52595936G>A	uc003des.2	-	25	4147	c.4135C>T	c.(4135-4137)CGG>TGG	p.R1379W	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.R1379W|PBRM1_uc003der.2_Missense_Mutation_p.R1347W|PBRM1_uc003det.2_Missense_Mutation_p.R1394W|PBRM1_uc003deu.2_Missense_Mutation_p.R1394W|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.R1379W|PBRM1_uc010hmk.1_Missense_Mutation_p.R1354W|PBRM1_uc003dey.2_Missense_Mutation_p.R1327W|PBRM1_uc003dez.1_Missense_Mutation_p.R1378W	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	1379	HMG box.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTGATTTTCCGTTTGGAGCCT	0.478			Mis|N|F|S|D|O		clear cell renal carcinoma|breast								A	52595936	G	A	52595936	3	1	16	1	0	0	0	0	1	0	0	0	11491	1144	40	1	789	1	PBRM1	3	52595936	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	38659	52595936	145426494	264	12586											
GLT8D1	55830	broad.mit.edu	37	chr3	52731828	52731828	+	Frame_Shift_Del	DEL	C	C	-													gctgtttatagctgcaatggCccccccaagcctgtcttcag					rs138720022	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:52731827_52731827GC>G	uc003dfi.4	-	3	470	c.239_239GC>C	c.(238-240)gccfs	p.A80fs	GLT8D1_uc003dfk.3_Frame_Shift_Del_p.A80fs|GLT8D1_uc003dfl.3_Frame_Shift_Del_p.A80fs|GLT8D1_uc003dfm.3_Frame_Shift_Del_p.A80fs|GLT8D1_uc003dfn.3_Frame_Shift_Del_p.A80fs	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 1 (GLT8D1), transcript variant 1, mRNA.	80						integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGCTGCAATGGCCCCCCCAAG	0.488													-	52731828	C	-	52731828	7	5	16	1	0	1	0	1	0	0	0	0	6469	739	26	0	905	0	GLT8D1	3	52731828	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	135892	52731828	145290602	265	12587											
SFMBT1	51460	broad.mit.edu	37	chr3	52941285	52941285	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actgccttcacttagggaatCatcatccccttcatctgggt	7	13	5	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:52941285C>A	uc003dgf.2	-	20	2700	c.2131G>T	c.(2131-2133)GAT>TAT	p.D711Y	SFMBT1_uc010hmr.2_Missense_Mutation_p.D658Y|SFMBT1_uc003dgg.2_Missense_Mutation_p.D711Y|SFMBT1_uc003dgh.2_Missense_Mutation_p.D711Y	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	711					regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CTTAGGGAATCATCATCCCCT	0.473													A	52941285	C	A	52941285	3	1	16	1	0	0	0	0	1	0	0	0	14157	826	29	5	481	5	SFMBT1	3	52941285	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	209457	52941285	145081145	266	12588											
CADPS	8618	broad.mit.edu	37	chr3	62477973	62477973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtaatacatacagtcagtaCggagaaaatcattcagcagc	9	8	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:62477973C>T	uc003dll.2	-	20	3236	c.2876G>A	c.(2875-2877)CGT>CAT	p.R959H	CADPS_uc003dlk.1_Missense_Mutation_p.R456H|CADPS_uc003dlm.2_Missense_Mutation_p.R969H|CADPS_uc003dln.2_Missense_Mutation_p.R929H	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	959	MHD1.|Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACAGTCAGTACGGAGAAAATC	0.428													T	62477973	C	T	62477973	3	4	16	1	0	0	0	0	1	0	0	0	2570	536	19	1	1229	1	CADPS	3	62477973	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	9536688	62477973	135544457	267	12589											
SLC25A26	115286	broad.mit.edu	37	chr3	66293635	66293635	+	Frame_Shift_Del	DEL	T	T	-													tttaaatttcagctgctgcaTtttttatcacctatgaatat							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:66293635delT	uc011bfq.1	+	4	927	c.199delT	c.(199-201)TTTfs	p.F67fs	SLC25A26_uc011bfs.1_5'UTR|SLC25A26_uc011bft.1_RNA|SLC25A26_uc011bfr.1_Frame_Shift_Del_p.F67fs|SLC25A26_uc003dmt.2_5'UTR	NM_173471	NP_775742	Q70HW3	SAMC_HUMAN	solute carrier family 25, member 26 isoform a	67	Solcar 1.|Helical; Name=2; (Potential).					integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity			pancreas(1)	1		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		AGCTGCTGCATTTTTTATCAC	0.328													-	66293635	T	-	66293635	7	5	16	1	0	1	0	1	0	0	0	0	14489	1493	52	0	11	0	SLC25A26	3	66293635	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	3815662	66293635	131728795	268	12590											
PDZRN3	23024	broad.mit.edu	37	chr3	73432742	73432742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctctgcatcatgaactcgCgccgccgccgctgctccttg	10	17	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:73432742C>T	uc003dpl.1	-	10	3071	c.2975G>A	c.(2974-2976)CGC>CAC	p.R992H	PDZRN3_uc011bgh.1_Missense_Mutation_p.R649H|PDZRN3_uc010hoe.1_Missense_Mutation_p.R690H|PDZRN3_uc011bgf.1_Missense_Mutation_p.R709H|PDZRN3_uc011bgg.1_Missense_Mutation_p.R712H	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	992	Potential.						ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CATGAACTCGCGCCGCCGCCG	0.577													T	73432742	C	T	73432742	3	4	16	1	0	0	0	0	1	0	0	0	11709	768	27	1	229	1	PDZRN3	3	73432742	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	7139107	73432742	124589688	269	12591											
PDZRN3	23024	broad.mit.edu	37	chr3	73432975	73432975	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactccatgcgcggctccgaCggggtgggagagctcaggtc	16	13	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:73432975C>T	uc003dpl.1	-	10	2838	c.2742G>A	c.(2740-2742)CCG>CCA	p.P914P	PDZRN3_uc011bgh.1_Silent_p.P571P|PDZRN3_uc010hoe.1_Silent_p.P612P|PDZRN3_uc011bgf.1_Silent_p.P631P|PDZRN3_uc011bgg.1_Silent_p.P634P	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	914							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCGGCTCCGACGGGGTGGGAG	0.657													T	73432975	C	T	73432975	2	4	16	1	0	0	0	0	0	0	0	1	11709	523	19	1		1	PDZRN3	3	73432975	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	233	73432975	124589455	270	12592											
ROBO1	6091	broad.mit.edu	37	chr3	78685077	78685077	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgagctgagtggtggcGtaaggagtaggctgccctga	18	6	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:78685077G>A	uc003dqe.2	-	23	3427	c.3219C>T	c.(3217-3219)TAC>TAT	p.Y1073Y	ROBO1_uc003dqb.2_Silent_p.Y1034Y|ROBO1_uc003dqc.2_Silent_p.Y973Y|ROBO1_uc003dqd.2_Silent_p.Y1028Y|ROBO1_uc010hoh.2_Silent_p.Y265Y|ROBO1_uc011bgl.1_Silent_p.Y645Y	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1073	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GAGTGGTGGCGTAAGGAGTAG	0.488													A	78685077	G	A	78685077	2	1	16	1	0	0	0	0	0	0	0	1	13513	1140	40	1		1	ROBO1	3	78685077	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	5252102	78685077	119337353	271	12593											
GBE1	2632	broad.mit.edu	37	chr3	81548302	81548302	+	Frame_Shift_Del	DEL	A	A	-													attatgttcaaaagcctcagAaaaaaagtcagtgctgtggt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:81548301_81548301GA>G	uc021xav.1	-	14	2294	c.2012_2012TC>C	c.(2011-2013)tctfs	p.S671fs		NM_000158	NP_000149	Q04446	GLGB_HUMAN	Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA.	671					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		AAAAGCCTCAGAAAAAAAGTC	0.368									Glycogen Storage Disease, type IV				-	81548302	A	-	81548302	7	5	16	1	0	1	0	1	0	0	0	0	6270	246	9	0	105	0	GBE1	3	81548302	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	2863225	81548302	116474128	272	12594											
FILIP1L	11259	broad.mit.edu	37	chr3	99568273	99568273	+	Frame_Shift_Del	DEL	T	T	-													ctgttttcttgttgatttagTtttttttgcaggactgagtg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:99568272_99568272GT>G	uc003dtm.3	-	4	2711	c.2248_2248AC>C	c.(2248-2250)ctafs	p.L750fs	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Frame_Shift_Del_p.L750fs|FILIP1L_uc010hpf.3_Frame_Shift_Del_p.L326fs|FILIP1L_uc010hpg.3_Frame_Shift_Del_p.L510fs|FILIP1L_uc003dtn.3_Frame_Shift_Del_p.L510fs|FILIP1L_uc021xbr.1_Frame_Shift_Del_p.L510fs|FILIP1L_uc003dtp.1_Frame_Shift_Del_p.L510fs	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	750						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGTTGATTTAGTTTTTTTTGC	0.403													-	99568273	T	-	99568273	7	5	16	1	0	1	0	1	0	0	0	0	5895	1722	60	0	1189	0	FILIP1L	3	99568273	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	18019971	99568273	98454157	273	12595											
FILIP1L	11259	broad.mit.edu	37	chr3	99568990	99568990	+	Frame_Shift_Del	DEL	T	T	-													ttatcttcagttttctttaaTttttcactcattgttttccg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:99568989_99568989AT>A	uc003dtm.3	-	4	1994	c.1531_1531AT>T	c.(1531-1533)ttafs	p.L511fs	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Frame_Shift_Del_p.L511fs|FILIP1L_uc010hpf.3_Frame_Shift_Del_p.L87fs|FILIP1L_uc010hpg.3_Frame_Shift_Del_p.L271fs|FILIP1L_uc003dtn.3_Frame_Shift_Del_p.L271fs|FILIP1L_uc021xbr.1_Frame_Shift_Del_p.L271fs|FILIP1L_uc003dtp.1_Frame_Shift_Del_p.L271fs	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	511						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GTTTTCTTTAATTTTTCACTC	0.318													-	99568990	T	-	99568990	7	5	16	1	0	1	0	1	0	0	0	0	5895	1490	52	0	1906	0	FILIP1L	3	99568990	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	717	99568990	98453440	274	12596											
C3orf26	84319	broad.mit.edu	37	chr3	99890707	99890707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacagcattcagaggagaCggcaaagttataaaattatt	9	5	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:99890707C>T	uc003dtl.2	+	7	686	c.543C>T	c.(541-543)GAC>GAT	p.D181D		NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	hypothetical protein LOC84319	181							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(1)	1						TCAGAGGAGACGGCAAAGTTA	0.418													T	99890707	C	T	99890707	2	4	16	1	0	0	0	0	0	0	0	1	2218	535	19	1		1	C3orf26	3	99890707	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	321717	99890707	98131723	275	12597											
DPPA4	55211	broad.mit.edu	37	chr3	109050737	109050737	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggcctttggagctcagcTtcaattgttggcaccaggcc	11	13	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:109050737T>C	uc003dxq.3	-	3	375	c.320A>G	c.(319-321)AAG>AGG	p.K107R	DPPA4_uc011bho.1_Missense_Mutation_p.K107R|DPPA4_uc011bhp.1_Missense_Mutation_p.K107R	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	107						nucleus	protein binding			upper_aerodigestive_tract(1)	1						GGAGCTCAGCTTCAATTGTTG	0.507													C	109050737	T	C	109050737	3	2	16	1	0	0	0	0	1	0	0	0	4736	1609	56	3	614	3	DPPA4	3	109050737	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	9160030	109050737	88971693	276	12598											
GSK3B	2932	broad.mit.edu	37	chr3	119631658	119631658	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcggaccagctgctttgcaCtaacagaaaaaaaataaaaa	6	9	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:119631658C>G	uc003edo.2	-	6	1592	c.609_splice	c.e6-1	p.S203_splice	GSK3B_uc003edn.2_Splice_Site_p.S203_splice	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta isoform 2						axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			lung(2)	2				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	CTGCTTTGCACTAACAGAAAA	0.353													G	119631658	C	G	119631658	5	3	16	1	0	0	0	0	0	0	1	0	6824	579	20	5	721	5	GSK3B	3	119631658	Splice_Site	SNP	C	TCGA-BR-4292-01A-01D-1126-08	10580921	119631658	78390772	277	12599											
POLQ	10721	broad.mit.edu	37	chr3	121230875	121230875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacaaattaagatactctcGcctataaccaaaagatacac	3	10	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:121230875G>A	uc003eee.3	-	10	1599	c.1470C>T	c.(1468-1470)GGC>GGT	p.G490G		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	490	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		AGATACTCTCGCCTATAACCA	0.378								DNA_polymerases_(catalytic_subunits)					A	121230875	G	A	121230875	2	1	16	1	0	0	0	0	0	0	0	1	12208	1101	38	1		1	POLQ	3	121230875	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1599217	121230875	76791555	278	12600											
WDR5B	54554	broad.mit.edu	37	chr3	122134419	122134419	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtactaggcgttcagccCtgaaccaggcagtccagtac	12	12	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:122134419C>A	uc003efa.1	-	1	464	c.-43G>T	c.(-45--41)CAGGG>CATGG			NM_019069	NP_061942	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B											ovary(3)	3				GBM - Glioblastoma multiforme(114;0.0704)		GCGTTCAGCCCTGAACCAGGC	0.483													A	122134419	C	A	122134419	1	1	16	1	0	0	0	0	0	0	0	0	17306	696	24	5		5	WDR5B	3	122134419	Translation_Start_Site	SNP	C	TCGA-BR-4292-01A-01D-1126-08	903544	122134419	75888011	279	12601											
ADCY5	111	broad.mit.edu	37	chr3	123051470	123051470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatgaccagttcctgtgCagtgcactgggacgccaggc	14	12	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:123051470C>T	uc003egh.1	-	4	1459	c.1459G>A	c.(1459-1461)GCA>ACA	p.A487T	ADCY5_uc003egg.1_Missense_Mutation_p.A120T|ADCY5_uc003egi.1_Missense_Mutation_p.A46T	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	487	Guanylate cyclase 1.|Cytoplasmic (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		AGTTCCTGTGCAGTGCACTGG	0.572													T	123051470	C	T	123051470	3	4	16	1	0	0	0	0	1	0	0	0	297	710	25	2	2398	2	ADCY5	3	123051470	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	917051	123051470	74970960	280	12602											
MYLK	4638	broad.mit.edu	37	chr3	123427553	123427553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcagcctcaccttgtaccGtgagcacggcctgggtgcgg	15	13	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:123427553G>A	uc003ego.2	-	15	2414	c.2132C>T	c.(2131-2133)ACG>ATG	p.T711M	MYLK_uc011bjw.1_Missense_Mutation_p.T711M|MYLK_uc003egp.2_Missense_Mutation_p.T642M|MYLK_uc003egq.2_Missense_Mutation_p.T711M|MYLK_uc003egr.2_Missense_Mutation_p.T642M|MYLK_uc003egs.2_Missense_Mutation_p.T535M	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	711	Ig-like C2-type 5.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACCTTGTACCGTGAGCACGGC	0.602													A	123427553	G	A	123427553	3	1	16	1	0	0	0	0	1	0	0	0	10056	1145	40	1	3692	1	MYLK	3	123427553	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	376083	123427553	74594877	281	12603											
ITGB5	3693	broad.mit.edu	37	chr3	124485139	124485139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacataggtgaacatcatgaCgcagtccttggcggttttgt	11	9	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:124485139C>T	uc003eho.2	-	13	2368	c.2071G>A	c.(2071-2073)GTC>ATC	p.V691I	ITGB5_uc010hrx.2_RNA	NM_002213	NP_002204	P18084	ITB5_HUMAN	integrin, beta 5 precursor	691	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			skin(2)	2				GBM - Glioblastoma multiforme(114;0.163)		AACATCATGACGCAGTCCTTG	0.572													T	124485139	C	T	124485139	3	4	16	1	0	0	0	0	1	0	0	0	7898	536	19	1	340	1	ITGB5	3	124485139	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1057586	124485139	73537291	282	12604											
KLF15	28999	broad.mit.edu	37	chr3	126062587	126062587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcagttcacggagcgcaCggagcggctgctccgcggga	15	13	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:126062587C>T	uc011bkk.1	-	3	1416	c.1234G>A	c.(1234-1236)GTG>ATG	p.V412M		NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	412						nucleus	DNA binding|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(114;0.147)		ACGGAGCGCACGGAGCGGCTG	0.592													T	126062587	C	T	126062587	3	4	16	1	0	0	0	0	1	0	0	0	8343	536	19	1	20	1	KLF15	3	126062587	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1577448	126062587	71959843	283	12605											
PLXNA1	5361	broad.mit.edu	37	chr3	126735391	126735391	+	Frame_Shift_Del	DEL	C	C	-													gtgagatccggtgcctgacaCcccccgggcagagccctggc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:126735391delC	uc003ejg.2	+	15	2981	c.2977delC	c.(2977-2979)CCCfs	p.P993fs		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1016	IPT/TIG 2.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		GTGCCTGACACCCCCCGGGCA	0.627													-	126735391	C	-	126735391	7	5	16	1	0	1	0	1	0	0	0	0	12119	507	18	0	3104	0	PLXNA1	3	126735391	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	672804	126735391	71287039	284	12606											
TOPBP1	11073	broad.mit.edu	37	chr3	133329880	133329880	+	Frame_Shift_Del	DEL	T	T	-													agattcttgtctttgctggaTtttttttctccatctcattg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:133329879_133329879AT>A	uc003eps.3	-	24	4274	c.4142_4142AT>T	c.(4141-4143)atcfs	p.I1381fs		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	1381					DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TCTTTGCTGGATTTTTTTTCT	0.343								Other conserved DNA damage response genes					-	133329880	T	-	133329880	7	5	16	1	0	1	0	1	0	0	0	0	16366	1493	52	0	443	0	TOPBP1	3	133329880	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	6594489	133329880	64692550	285	12607											
XRN1	54464	broad.mit.edu	37	chr3	142122802	142122802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttttgtttatgtctacaCgccaagcatctaaggatatt	7	7	2	0	rs138660782		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:142122802C>T	uc003eus.2	-	17	1980	c.1913G>A	c.(1912-1914)CGT>CAT	p.R638H	XRN1_uc010huu.2_Missense_Mutation_p.R104H|XRN1_uc003eut.2_Missense_Mutation_p.R638H|XRN1_uc003euu.2_Missense_Mutation_p.R638H|XRN1_uc003euv.1_Missense_Mutation_p.R499H	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	638					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						TATGTCTACACGCCAAGCATC	0.299													T	142122802	C	T	142122802	3	4	16	1	0	0	0	0	1	0	0	0	17456	536	19	1	3311	1	XRN1	3	142122802	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	8792922	142122802	55899628	286	12608											
PAQR9	344838	broad.mit.edu	37	chr3	142681763	142681763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggcagctgaacacgtgcGccgtgcagctcatggcgaag	14	12	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:142681763G>A	uc003evg.2	-	1	416	c.416C>T	c.(415-417)GCG>GTG	p.A139V	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	139	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						GAACACGTGCGCCGTGCAGCT	0.657													A	142681763	G	A	142681763	3	1	16	1	0	0	0	0	1	0	0	0	11442	1087	38	1	721	1	PAQR9	3	142681763	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	558961	142681763	55340667	287	12609											
PLSCR1	5359	broad.mit.edu	37	chr3	146254325	146254325	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatttaaaataaattacttActttgtttgtccatgattaa	3	5	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:146254325A>C	uc003evx.3	-	2	401	c.13_splice	c.e2+1	p.N5_splice	PLSCR1_uc003evy.3_Intron|PLSCR1_uc011bnn.1_Splice_Site|PLSCR1_uc003evz.3_Splice_Site|PLSCR1_uc003ewa.2_Splice_Site_p.N5_splice	NM_021105	NP_066928	O15162	PLS1_HUMAN	phospholipid scramblase 1						phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			ovary(2)	2						TAAATTACTTACTTTGTTTGT	0.294													C	146254325	A	C	146254325	5	2	16	1	0	0	0	0	0	0	1	0	12109	405	14	5	973	5	PLSCR1	3	146254325	Splice_Site	SNP	A	TCGA-BR-4292-01A-01D-1126-08	3572562	146254325	51768105	288	12610											
MED12L	116931	broad.mit.edu	37	chr3	150845633	150845633	+	Frame_Shift_Del	DEL	G	G	-													ttcctatccttagtaaaaaaGaggatgtttttgcatattta							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:150845633delG	uc003eyp.2	+	4	456	c.418delG	c.(418-420)GAGfs	p.E140fs	MED12L_uc011bnz.1_Frame_Shift_Del_p.E140fs|MED12L_uc003eym.1_Frame_Shift_Del_p.E140fs|MED12L_uc003eyn.2_Frame_Shift_Del_p.E140fs|MED12L_uc003eyo.2_Frame_Shift_Del_p.E140fs	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	140					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAGTAAAAAAGAGGATGTTTT	0.343													-	150845633	G	-	150845633	7	5	16	1	0	1	0	1	0	0	0	0	9429	943	33	0	432	0	MED12L	3	150845633	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	4591308	150845633	47176797	289	12611											
AADACL2	344752	broad.mit.edu	37	chr3	151458608	151458608	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagtcagaaacccgaaggCgagctgtgatatattttcat	10	7	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:151458608C>T	uc003ezc.2	+	2	433	c.313C>T	c.(313-315)CGA>TGA	p.R105*	AADACL2_uc010hvn.2_Intron	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2 precursor	105						extracellular region|integral to membrane	carboxylesterase activity				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AACCCGAAGGCGAGCTGTGAT	0.368													T	151458608	C	T	151458608	4	4	16	1	0	0	0	0	0	1	0	0	11	760	27	1	319	1	AADACL2	3	151458608	Nonsense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	612975	151458608	46563822	290	12612											
DHX36	170506	broad.mit.edu	37	chr3	154007599	154007599	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accattatacagatgatagcAatgaccaggttgaactctta	7	8	1	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:154007599A>T	uc003ezy.3	-	16	1912	c.1831T>A	c.(1831-1833)TGC>AGC	p.C611S	DHX36_uc010hvq.2_Missense_Mutation_p.C597S|DHX36_uc003ezz.3_Missense_Mutation_p.C611S	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	611	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGATGATAGCAATGACCAGGT	0.338													T	154007599	A	T	154007599	3	4	16	1	0	0	0	0	1	0	0	0	4509	130	5	5	1235	5	DHX36	3	154007599	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	2548991	154007599	44014831	291	12613											
PLCH1	23007	broad.mit.edu	37	chr3	155301426	155301426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgattctcatctgtgtcGgcttcctgaaaagggcatag	10	11	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:155301426G>A	uc011bok.1	-	5	847	c.570C>T	c.(568-570)GCC>GCT	p.A190A	PLCH1_uc011boj.1_Silent_p.A190A|PLCH1_uc011bol.1_Silent_p.A172A	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	190	EF-hand 2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CATCTGTGTCGGCTTCCTGAA	0.328													A	155301426	G	A	155301426	2	1	16	1	0	0	0	0	0	0	0	1	12037	1103	39	1		1	PLCH1	3	155301426	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1293827	155301426	42721004	292	12614											
RARRES1	5918	broad.mit.edu	37	chr3	158428614	158428614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgttgtcttttctttttctCgatgagccgtgtacaagtta	8	7	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:158428614C>T	uc003fci.2	-	3	519	c.448G>A	c.(448-450)GAG>AAG	p.E150K	RARRES1_uc003fcj.2_Missense_Mutation_p.E150K	NM_206963	NP_996846	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene	150	Extracellular (Potential).				negative regulation of cell proliferation	integral to membrane					0			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	TTCTTTTTCTCGATGAGCCGT	0.423													T	158428614	C	T	158428614	3	4	16	1	0	0	0	0	1	0	0	0	13055	893	31	1	467	1	RARRES1	3	158428614	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3127188	158428614	39593816	293	12615											
ZBBX	79740	broad.mit.edu	37	chr3	167077712	167077712	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actttcccatttatcttgggTttttcacattctgaagaatt	5	8	3	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:167077712T>G	uc003fep.2	-	8	701	c.378A>C	c.(376-378)AAA>AAC	p.K126N	ZBBX_uc011bpc.1_Missense_Mutation_p.K126N|ZBBX_uc003feq.2_Missense_Mutation_p.K97N	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	126						intracellular	zinc ion binding			ovary(2)	2						TTATCTTGGGTTTTTCACATT	0.303													G	167077712	T	G	167077712	3	3	16	1	0	0	0	0	1	0	0	0	17513	1722	60	5	2080	5	ZBBX	3	167077712	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	8649098	167077712	30944718	294	12616											
SERPINI1	5274	broad.mit.edu	37	chr3	167507159	167507159	+	Frame_Shift_Del	DEL	A	A	-													tcaatgggatatgacagcctAaaaaatggtaagagtgatca							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:167507159delA	uc003ffa.3	+	2	441	c.243delA	c.(241-243)CTAfs	p.L81fs	SERPINI1_uc003ffb.3_Frame_Shift_Del_p.L81fs	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN	neuroserpin precursor	81					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(1)	1						ATGACAGCCTAAAAAATGGTA	0.388													-	167507159	A	-	167507159	7	5	16	1	0	1	0	1	0	0	0	0	14118	349	13	0	245	0	SERPINI1	3	167507159	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	429447	167507159	30515271	295	12617											
GPR160	26996	broad.mit.edu	37	chr3	169802469	169802469	+	Frame_Shift_Del	DEL	A	A	-													ccagttatactgtgagatctAaaaaaatattcttatccaag							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:169802469delA	uc003fgi.2	+	4	1299	c.709delA	c.(709-711)AAAfs	p.K237fs	GPR160_uc010hwq.2_Frame_Shift_Del_p.K237fs	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	237	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TGTGAGATCTAAAAAAATATT	0.328													-	169802469	A	-	169802469	7	5	16	1	0	1	0	1	0	0	0	0	6664	363	13	0	711	0	GPR160	3	169802469	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	2295310	169802469	28219961	296	12618											
SLC7A14	57709	broad.mit.edu	37	chr3	170204127	170204127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcaaagccaatgaaagCgtagaagcatgttgctgctc	11	8	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:170204127C>T	uc003fgz.2	-	5	1106	c.790G>A	c.(790-792)GCT>ACT	p.A264T	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	264	Helical; (Potential).					integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CCAATGAAAGCGTAGAAGCAT	0.517													T	170204127	C	T	170204127	3	4	16	1	0	0	0	0	1	0	0	0	14696	768	27	1	1541	1	SLC7A14	3	170204127	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	401658	170204127	27818303	297	12619											
SLC7A14	57709	broad.mit.edu	37	chr3	170218991	170218991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctcagagcactggctcCggccgcagtgccaatcaggt	13	14	2	1	rs146405741		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:170218991C>T	uc003fgz.2	-	3	764	c.448G>A	c.(448-450)GGA>AGA	p.G150R	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	150						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCACTGGCTCCGGCCGCAGTG	0.557													T	170218991	C	T	170218991	3	4	16	1	0	0	0	0	1	0	0	0	14696	661	23	1	1891	1	SLC7A14	3	170218991	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	14864	170218991	27803439	298	12620											
MCCC1	56922	broad.mit.edu	37	chr3	182743546	182743546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaccagtaaggcttacctgCatgctataagacccatcatg	7	11	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:182743546C>T	uc003fle.2	-	15	1865	c.1728G>A	c.(1726-1728)ATG>ATA	p.M576I	MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_Intron|MCCC1_uc003flf.2_Missense_Mutation_p.M459I|MCCC1_uc003flg.2_Missense_Mutation_p.M467I|MCCC1_uc011bqp.1_Missense_Mutation_p.M529I	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	576					biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	GGCTTACCTGCATGCTATAAG	0.373													T	182743546	C	T	182743546	3	4	16	1	0	0	0	0	1	0	0	0	9374	710	25	2	469	2	MCCC1	3	182743546	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	12524555	182743546	15278884	299	12621											
AP2M1	1173	broad.mit.edu	37	chr3	183896808	183896808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaacgctgccatggtcttcGaattcctctataagatgtgt	8	10	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:183896808G>A	uc011bqx.1	+	3	395	c.238G>A	c.(238-240)GAA>AAA	p.E80K	AP2M1_uc003fmw.2_Missense_Mutation_p.E80K|AP2M1_uc003fmx.2_Missense_Mutation_p.E80K|AP2M1_uc003fmy.2_Missense_Mutation_p.E80K|AP2M1_uc011bqy.1_5'Flank|AP2M1_uc011bqz.1_5'Flank	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	80					axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity				0	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CATGGTCTTCGAATTCCTCTA	0.483													A	183896808	G	A	183896808	3	1	16	1	0	0	0	0	1	0	0	0	742	1059	37	1	244	1	AP2M1	3	183896808	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1153262	183896808	14125622	300	12622											
THPO	7066	broad.mit.edu	37	chr3	184090371	184090371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggctggtaggggtgggcGttggagcagaagggtcagga	23	4	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:184090371G>A	uc003fol.1	-	6	1207	c.992C>T	c.(991-993)ACG>ATG	p.T331M	THPO_uc003fom.1_Missense_Mutation_p.T327M|THPO_uc003fon.2_3'UTR|THPO_uc011bro.1_Missense_Mutation_p.T207M|THPO_uc003fop.2_3'UTR|THPO_uc011brp.1_Missense_Mutation_p.T144M	NM_000460	NP_000451	P40225	TPO_HUMAN	thrombopoietin precursor	331	Pro-rich.				cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			ovary(1)	1	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGGGTGGGCGTTGGAGCAGA	0.572													A	184090371	G	A	184090371	3	1	16	1	0	0	0	0	1	0	0	0	15869	1145	40	1	73	1	THPO	3	184090371	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	193563	184090371	13932059	301	12623											
IGF2BP2	10644	broad.mit.edu	37	chr3	185375140	185375140	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttcttcccgatgatggcGcccacagcctgggttgggat	12	14	1	1	rs142081639		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:185375140G>A	uc003fpo.2	-	12	1399	c.1320C>T	c.(1318-1320)GGC>GGT	p.G440G	IGF2BP2_uc010hyi.2_Silent_p.G383G|IGF2BP2_uc010hyj.2_Silent_p.G377G|IGF2BP2_uc010hyk.2_Silent_p.G304G|IGF2BP2_uc010hyl.2_Silent_p.G334G|IGF2BP2_uc003fpp.2_Silent_p.G397G|IGF2BP2_uc003fpq.2_Silent_p.G445G	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding	440	KH 3.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity				0	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CGATGATGGCGCCCACAGCCT	0.567													A	185375140	G	A	185375140	2	1	16	1	0	0	0	0	0	0	0	1	7574	1074	38	1		1	IGF2BP2	3	185375140	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1284769	185375140	12647290	302	12624											
HRG	3273	broad.mit.edu	37	chr3	186395437	186395437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcccaggtaaaggaccccGtcccttccattgcagacaaa	9	14	0	1	rs149578094		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:186395437G>A	uc003fqq.2	+	7	1366	c.1343G>A	c.(1342-1344)CGT>CAT	p.R448H		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	448	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		AAAGGACCCCGTCCCTTCCAT	0.567													A	186395437	G	A	186395437	3	1	16	1	0	0	0	0	1	0	0	0	7354	1145	40	1	1369	1	HRG	3	186395437	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1020297	186395437	11626993	303	12625											
LPP	4026	broad.mit.edu	37	chr3	188123957	188123957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcactggtgagcccctcGgccatgtgcctgcacggatg	13	13	0	1	rs139718801	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:188123957G>A	uc003frs.1	+	3	295	c.49G>A	c.(49-51)GGC>AGC	p.G17S	LPP_uc011bsg.1_Missense_Mutation_p.G17S|LPP_uc011bsi.1_Missense_Mutation_p.G17S|LPP_uc003frt.2_Missense_Mutation_p.G17S	NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	17					cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TGAGCCCCTCGGCCATGTGCC	0.502			T	HMGA2|MLL|C12orf9	lipoma|leukemia								A	188123957	G	A	188123957	3	1	16	1	0	0	0	0	1	0	0	0	8923	1116	39	1	51	1	LPP	3	188123957	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1728520	188123957	9898473	304	12626											
GP5	2814	broad.mit.edu	37	chr3	194118379	194118379	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggctgttcaacagcccCgaatccagagacacaaggcg	10	15	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:194118379C>T	uc003ftv.1	-	2	664	c.633G>A	c.(631-633)TCG>TCA	p.S211S		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	211	Extracellular (Potential).|LRR 6.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				skin(2)|breast(1)	3	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TCAACAGCCCCGAATCCAGAG	0.612													T	194118379	C	T	194118379	2	4	16	1	0	0	0	0	0	0	0	1	6583	639	23	1		1	GP5	3	194118379	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	5994422	194118379	3904051	305	12627											
TNK2	10188	broad.mit.edu	37	chr3	195594978	195594978	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccggagcctgcagttgccTcatgcactcctgctgtagcg	13	14	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:195594978T>C	uc003fvu.1	-	12	2689	c.2146A>G	c.(2146-2148)AGG>GGG	p.R716G	TNK2_uc003fvq.1_Missense_Mutation_p.R123G|TNK2_uc003fvr.1_Missense_Mutation_p.R241G|TNK2_uc003fvs.1_Missense_Mutation_p.R748G|TNK2_uc003fvt.1_Missense_Mutation_p.R794G|TNK2_uc010hzw.1_RNA	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	716	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TGCAGTTGCCTCATGCACTCC	0.716													C	195594978	T	C	195594978	3	2	16	1	0	0	0	0	1	0	0	0	16315	1550	54	3	986	3	TNK2	3	195594978	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	1476599	195594978	2427452	306	12628											
OSTalpha	200931	broad.mit.edu	37	chr3	195944785	195944785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcttctctcagcctccCacagcagcccaactcctgag	7	19	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr3:195944785C>T	uc003fwd.2	+	2	312	c.111C>T	c.(109-111)CCC>CCT	p.P37P	OSTalpha_uc011btu.1_Silent_p.P37P	NM_152672	NP_689885	Q86UW1	OSTA_HUMAN	organic solute transporter alpha	37						integral to membrane|plasma membrane	transporter activity			ovary(1)	1	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06)	GBM - Glioblastoma multiforme(46;0.00202)		CTCAGCCTCCCACAGCAGCCC	0.607													T	195944785	C	T	195944785	2	4	16	1	0	0	0	0	0	0	0	1	11300	581	21	4		4	OSTalpha	3	195944785	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	349807	195944785	2077645	307	12629											
KIAA1530	57654	broad.mit.edu	37	chr4	1348916	1348916	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttcgcagcgcttcacccgCgtcgggacccacggtggatg	14	14	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:1348916C>T	uc003gde.3	+	7	1506	c.1059C>T	c.(1057-1059)CGC>CGT	p.R353R		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	353											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			GCTTCACCCGCGTCGGGACCC	0.617													T	1348916	C	T	1348916	2	4	16	1	0	0	0	0	0	0	0	1	8241	755	27	1		1	KIAA1530	4	1348916	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08		1348916	189805360	308	12630											
TACC3	10460	broad.mit.edu	37	chr4	1742700	1742700	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaacagaaagaggtgatcgAgggctaccgcaaggtatgtc	14	7	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:1742700A>T	uc003gdo.2	+	13	2318	c.2210A>T	c.(2209-2211)GAG>GTG	p.E737V	TACC3_uc003gdp.2_Missense_Mutation_p.E377V|TACC3_uc010ica.2_Missense_Mutation_p.E158V	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing	737	Potential.					centrosome				ovary(1)|central_nervous_system(1)	2		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GAGGTGATCGAGGGCTACCGC	0.522													T	1742700	A	T	1742700	3	4	16	1	0	0	0	0	1	0	0	0	15500	304	11	5	2256	5	TACC3	4	1742700	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	393784	1742700	189411576	309	12631											
ZFYVE28	57732	broad.mit.edu	37	chr4	2306791	2306791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcggcccaggtactgcctgCccacccaaatgggccagctg	12	16	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:2306791C>T	uc003gex.1	-	8	1595	c.1276G>A	c.(1276-1278)GCA>ACA	p.A426T	ZFYVE28_uc011bvk.1_Missense_Mutation_p.A356T|ZFYVE28_uc011bvl.1_Missense_Mutation_p.A396T|ZFYVE28_uc003gew.1_Missense_Mutation_p.A312T	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	426					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			skin(2)|ovary(1)	3						GTACTGCCTGCCCACCCAAAT	0.677													T	2306791	C	T	2306791	3	4	16	1	0	0	0	0	1	0	0	0	17667	739	26	2	1411	2	ZFYVE28	4	2306791	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	564091	2306791	188847485	310	12632											
TNIP2	79155	broad.mit.edu	37	chr4	2746454	2746454	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatctgcacccgctccaaCgcagcatcccgggccgtcct	9	19	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:2746454C>T	uc003gfg.2	-	4	963	c.876G>A	c.(874-876)GCG>GCA	p.A292A	TNIP2_uc003gff.2_Silent_p.A185A|TNIP2_uc003gfh.2_Intron	NM_024309	NP_077285	Q8NFZ5	TNIP2_HUMAN	A20-binding inhibitor of NF-kappaB activation 2	292	Potential.					cytosol	protein binding			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCCGCTCCAACGCAGCATCCC	0.612													T	2746454	C	T	2746454	2	4	16	1	0	0	0	0	0	0	0	1	16312	523	19	1		1	TNIP2	4	2746454	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	439663	2746454	188407822	311	12633											
NOP14	8602	broad.mit.edu	37	chr4	2948228	2948228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggagaacaaatttgatagCgtcacttgcagattcaggaa	10	7	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:2948228C>T	uc003ggj.1	-	11	1618	c.1546G>A	c.(1546-1548)GCT>ACT	p.A516T	C4orf10_uc003gge.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.A262T|NOP14_uc003ggk.3_Missense_Mutation_p.A516T|NOP14_uc003ggl.2_Missense_Mutation_p.A516T	NM_003703	NP_003694	P78316	NOP14_HUMAN	probable nucleolar complex protein 14	516					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)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1						AATTTGATAGCGTCACTTGCA	0.438													T	2948228	C	T	2948228	3	4	16	1	0	0	0	0	1	0	0	0	10536	768	27	1	1059	1	NOP14	4	2948228	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	201774	2948228	188206048	312	12634											
HGFAC	3083	broad.mit.edu	37	chr4	3450973	3450973	+	Frame_Shift_Del	DEL	G	G	-													tctctgcccagggggactcaGgggggcccctggcctgcgag							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:3450973delG	uc003ghc.2	+	14	1798	c.1795delG	c.(1795-1797)GGGfs	p.G599fs	HGFAC_uc010icw.2_Frame_Shift_Del_p.G606fs	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	599	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGGGGACTCAGGGGGGCCCCT	0.682													-	3450973	G	-	3450973	7	5	16	1	0	1	0	1	0	0	0	0	7086	1000	35	0	1849	0	HGFAC	4	3450973	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	502745	3450973	187703303	313	12635											
EVC2	132884	broad.mit.edu	37	chr4	5664926	5664926	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtcctcattcacgccatcAgctgaggtgaacggcaaggg	13	11	3	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:5664926A>G	uc003gij.2	-	9	1107	c.1053T>C	c.(1051-1053)GCT>GCC	p.A351A	EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Silent_p.A271A	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	351						integral to membrane				large_intestine(3)|ovary(2)	5						TCACGCCATCAGCTGAGGTGA	0.468													G	5664926	A	G	5664926	2	3	16	1	0	0	0	0	0	0	0	1	5286	175	7	3		3	EVC2	4	5664926	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	2213953	5664926	185489350	314	12636											
EVC	2121	broad.mit.edu	37	chr4	5733277	5733277	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagccagggtgagaaggaCgactgcagctcctcatccag	13	12	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:5733277C>T	uc003gil.1	+	4	694	c.510C>T	c.(508-510)GAC>GAT	p.D170D	EVC_uc003gim.1_RNA	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	170					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				GTGAGAAGGACGACTGCAGCT	0.602													T	5733277	C	T	5733277	2	4	16	1	0	0	0	0	0	0	0	1	5285	535	19	1		1	EVC	4	5733277	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	68351	5733277	185420999	315	12637											
CRMP1	1400	broad.mit.edu	37	chr4	5862758	5862758	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagtgtcactcactgatcAtcgtggtcccgcccaccagt	9	15	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:5862758A>G	uc003gip.2	-	4	409	c.308T>C	c.(307-309)ATG>ACG	p.M103T	CRMP1_uc003gin.1_Intron|CRMP1_uc003giq.2_Missense_Mutation_p.M103T|CRMP1_uc003gir.2_Missense_Mutation_p.M98T|CRMP1_uc003gis.2_Missense_Mutation_p.M217T	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	103					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		CTCACTGATCATCGTGGTCCC	0.577													G	5862758	A	G	5862758	3	3	16	1	0	0	0	0	1	0	0	0	3890	217	8	3	1458	3	CRMP1	4	5862758	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	129481	5862758	185291518	316	12638											
CCDC96	257236	broad.mit.edu	37	chr4	7043508	7043508	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcctggtttcaaaatgcacCaggctctgcttcagctgaat	8	11	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:7043508C>A	uc003gjv.2	-	1	1221	c.1158G>T	c.(1156-1158)CTG>CTT	p.L386L	TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	386	Potential.										0						CAAAATGCACCAGGCTCTGCT	0.522													A	7043508	C	A	7043508	2	1	16	1	0	0	0	0	0	0	0	1	2874	581	21	5		5	CCDC96	4	7043508	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1180750	7043508	184110768	317	12639											
DRD5	1816	broad.mit.edu	37	chr4	9784659	9784659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccggccggcttcccctgcGtcagtgagaccaccttcgac	10	18	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:9784659G>A	uc003gmb.3	+	1	1402	c.1006G>A	c.(1006-1008)GTC>ATC	p.V336I		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	336	Extracellular (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CTTCCCCTGCGTCAGTGAGAC	0.587													A	9784659	G	A	9784659	3	1	16	1	0	0	0	0	1	0	0	0	4760	1145	40	1	1008	1	DRD5	4	9784659	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2741151	9784659	181369617	318	12640											
SLC2A9	56606	broad.mit.edu	37	chr4	9987317	9987317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctatgcccatgatgaagcGtcccacgatgagcatttcaa	8	11	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:9987317G>A	uc003gmc.2	-	4	572	c.511C>T	c.(511-513)CGC>TGC	p.R171C	SLC2A9_uc003gmd.2_Missense_Mutation_p.R142C	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	solute carrier family 2, member 9 protein	171	Extracellular (Potential).				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			ovary(3)	3						ATGATGAAGCGTCCCACGATG	0.388													A	9987317	G	A	9987317	3	1	16	1	0	0	0	0	1	0	0	0	14552	1145	40	1	1147	1	SLC2A9	4	9987317	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	202658	9987317	181166959	319	12641											
C1QTNF7	114905	broad.mit.edu	37	chr4	15444178	15444178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaataagcatctggcaatcGgactggtacacaatgggcaa	10	9	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:15444178G>A	uc011bxb.1	+	3	852	c.625G>A	c.(625-627)GGA>AGA	p.G209R	C1QTNF7_uc003gno.2_Missense_Mutation_p.G216R|C1QTNF7_uc003gnp.2_Missense_Mutation_p.G209R	NM_001135171	NP_001128643	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	209	C1q.					collagen					0						TCTGGCAATCGGACTGGTACA	0.478													A	15444178	G	A	15444178	3	1	16	1	0	0	0	0	1	0	0	0	1968	1117	39	1	656	1	C1QTNF7	4	15444178	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	5456861	15444178	175710098	320	12642											
LGI2	55203	broad.mit.edu	37	chr4	25014047	25014047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggctgcgcgatggccaCgtacacatcgttcttggagt	14	11	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:25014047C>T	uc003grf.2	-	7	829	c.730G>A	c.(730-732)GTG>ATG	p.V244M		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	244	EAR 1.					extracellular region					0		Breast(46;0.173)				GCGATGGCCACGTACACATCG	0.468													T	25014047	C	T	25014047	3	4	16	1	0	0	0	0	1	0	0	0	8752	536	19	1	915	1	LGI2	4	25014047	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	9569869	25014047	166140229	321	12643											
ZCCHC4	29063	broad.mit.edu	37	chr4	25334863	25334863	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttttgtcaaacatgtcagCagttgttgttaccagatgac	9	7	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:25334863C>T	uc003grl.3	+	4	424	c.388C>T	c.(388-390)CAG>TAG	p.Q130*	ZCCHC4_uc003grm.1_RNA|ZCCHC4_uc003grn.3_5'UTR	NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	130							methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(2)	2		Breast(46;0.0503)				AACATGTCAGCAGTTGTTGTT	0.388													T	25334863	C	T	25334863	4	4	16	1	0	0	0	0	0	1	0	0	17587	711	25	2	402	2	ZCCHC4	4	25334863	Nonsense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	320816	25334863	165819413	322	12644											
SLC34A2	10568	broad.mit.edu	37	chr4	25665878	25665878	+	Frame_Shift_Del	DEL	T	T	-													ccaagggattgggagattgaTtttacttctcggatttctct							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:25665878delT	uc003grr.2	+	4	386	c.305delT	c.(304-306)ATTfs	p.I102fs	SLC34A2_uc003grs.2_Frame_Shift_Del_p.I101fs|SLC34A2_uc010iev.2_Frame_Shift_Del_p.I101fs	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	102	Helical; Name=M1; (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)				GGGAGATTGATTTTACTTCTC	0.483													-	25665878	T	-	25665878	7	5	16	1	0	1	0	1	0	0	0	0	14568	1493	52	0	315	0	SLC34A2	4	25665878	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	331015	25665878	165488398	323	12645	34	2									
SLC34A2	10568	broad.mit.edu	37	chr4	25665888	25665888	+	Silent	SNP	C	C	T													gggagattgattttacttctCggatttctctactttttcgt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:25665888C>T	uc003grr.2	+	4	396	c.315C>T	c.(313-315)CTC>CTT	p.L105L	SLC34A2_uc003grs.2_Silent_p.L104L|SLC34A2_uc010iev.2_Silent_p.L104L	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	105	Helical; Name=M1; (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)				TTTTACTTCTCGGATTTCTCT	0.507													T	25665888	C	T	25665888	2	4	16	1	0	0	0	0	0	0	0	1	14568	871	31	1		1	SLC34A2	4	25665888	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	10	25665888	165488388	324	12646	34	2									
CHRNA9	55584	broad.mit.edu	37	chr4	40356371	40356371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacagtacaaagtgctgaCgaggaatattgagtacatcg	11	7	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:40356371C>T	uc003gva.1	+	5	1290	c.1274C>T	c.(1273-1275)ACG>ATG	p.T425M		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9	425	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(3)|skin(3)|central_nervous_system(1)	7					Nicotine(DB00184)	AAAGTGCTGACGAGGAATATT	0.498													T	40356371	C	T	40356371	3	4	16	1	0	0	0	0	1	0	0	0	3389	536	19	1	1292	1	CHRNA9	4	40356371	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	14690483	40356371	150797905	325	12647											
BEND4	389206	broad.mit.edu	37	chr4	42119703	42119703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttgtttatctgctcttcCgagggcatccaccaatcggg	9	12	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:42119703C>T	uc003gwn.2	-	6	2017	c.1437G>A	c.(1435-1437)TCG>TCA	p.S479S	BEND4_uc003gwm.2_3'UTR	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	BEN domain containing 4 isoform a	479	BEN.										0						TCTGCTCTTCCGAGGGCATCC	0.498													T	42119703	C	T	42119703	2	4	16	1	0	0	0	0	0	0	0	1	1400	639	23	1		1	BEND4	4	42119703	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1763332	42119703	149034573	326	12648											
KCTD8	386617	broad.mit.edu	37	chr4	44177044	44177044	+	Frame_Shift_Del	DEL	T	T	-													ggtatccattgtacaggtgcTtttttagaggggcgatccaa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:44177044delT	uc003gwu.2	-	2	1469	c.1185delA	c.(1183-1185)AAAfs	p.K395fs		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	395						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						GTACAGGTGCTTTTTTAGAGG	0.502										HNSCC(17;0.042)			-	44177044	T	-	44177044	7	5	16	1	0	1	0	1	0	0	0	0	8115	1606	56	0	240	0	KCTD8	4	44177044	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	2057341	44177044	146977232	327	12649											
FRYL	285527	broad.mit.edu	37	chr4	48569288	48569288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacattctgaataatattcGccactaaggcactaaaatgg	7	8	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:48569288G>A	uc003gyh.1	-	28	3751	c.3146C>T	c.(3145-3147)GCG>GTG	p.A1049V	FRYL_uc003gyk.2_Missense_Mutation_p.A1049V|FRYL_uc003gyi.1_5'Flank	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1049					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						AATAATATTCGCCACTAAGGC	0.328													A	48569288	G	A	48569288	3	1	16	1	0	0	0	0	1	0	0	0	6064	1087	38	1	6043	1	FRYL	4	48569288	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	4392244	48569288	142584988	328	12650											
LRRC66	339977	broad.mit.edu	37	chr4	52861190	52861190	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcttggaggaaagactgaTgggcctgtgtctcttgggtc	14	8	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:52861190T>G	uc003gzi.2	-	4	2011	c.1998A>C	c.(1996-1998)CCA>CCC	p.P666P		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	666						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						GAAAGACTGATGGGCCTGTGT	0.557													G	52861190	T	G	52861190	2	3	16	1	0	0	0	0	0	0	0	1	9018	1451	51	5		5	LRRC66	4	52861190	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	4291902	52861190	138293086	329	12651											
GSX2	170825	broad.mit.edu	37	chr4	54966533	54966533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtcgcgctccttctatgtcGactcgctcatcatcaaggac	8	14	4	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:54966533G>A	uc010igp.1	+	1	286	c.22G>A	c.(22-24)GAC>AAC	p.D8N	PDGFRA_uc003haa.2_Intron	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	GS homeobox 2	8						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			CTTCTATGTCGACTCGCTCAT	0.647													A	54966533	G	A	54966533	3	1	16	1	0	0	0	0	1	0	0	0	6850	1058	37	1	24	1	GSX2	4	54966533	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2105343	54966533	136187743	330	12652											
KIAA1211	57482	broad.mit.edu	37	chr4	57181853	57181853	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgcctggcagaaatttTccgatggtggcacggagacc	13	11	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:57181853T>C	uc003hbk.2	+	8	2576	c.2185T>C	c.(2185-2187)TCC>CCC	p.S729P	KIAA1211_uc010iha.2_Missense_Mutation_p.S722P|KIAA1211_uc011bzz.1_Missense_Mutation_p.S639P|KIAA1211_uc003hbm.1_Missense_Mutation_p.S615P	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	729								p.S729S(1)		ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					GCAGAAATTTTCCGATGGTGG	0.572													C	57181853	T	C	57181853	3	2	16	1	0	0	0	0	1	0	0	0	8215	1783	62	3	2203	3	KIAA1211	4	57181853	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	2215320	57181853	133972423	331	12653											
CSN3	1448	broad.mit.edu	37	chr4	71114781	71114781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcccaatgtattatgtgCcaaatagctatccttattat	5	8	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:71114781C>T	uc003hfe.3	+	4	212	c.154C>T	c.(154-156)CCA>TCA	p.P52S		NM_005212	NP_005203	P07498	CASK_HUMAN	casein kappa precursor	52						extracellular region	protein binding	p.P52A(1)		ovary(2)|kidney(1)|central_nervous_system(1)	4						GTATTATGTGCCAAATAGCTA	0.333													T	71114781	C	T	71114781	3	4	16	1	0	0	0	0	1	0	0	0	3949	739	26	2	164	2	CSN3	4	71114781	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	13932928	71114781	120039495	332	12654											
C4orf35	85438	broad.mit.edu	37	chr4	71201047	71201047	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacctacagaaagaaattacCtctctgactggcactacaaa	5	12	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:71201047C>A	uc003hff.2	+	1	377	c.291C>A	c.(289-291)ACC>ACA	p.T97T		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	97						flagellum	calcium ion binding				0		all_hematologic(202;0.196)				AAGAAATTACCTCTCTGACTG	0.373													A	71201047	C	A	71201047	2	1	16	1	0	0	0	0	0	0	0	1	2265	668	24	5		5	C4orf35	4	71201047	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	86266	71201047	119953229	333	12655											
NAAA	27163	broad.mit.edu	37	chr4	76842177	76842177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgatgaccaccccctcccGgggggacgtgccaccaacaa	11	17	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:76842177G>A	uc003hjb.2	-	6	830	c.766C>T	c.(766-768)CGG>TGG	p.R256W	NAAA_uc003hja.2_Missense_Mutation_p.R256W|NAAA_uc003hjc.3_Missense_Mutation_p.R256W|NAAA_uc003hjd.3_RNA|NAAA_uc011cbq.1_Missense_Mutation_p.R155W	NM_014435	NP_055250	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase isoform 1	256					lipid metabolic process	lysosome	hydrolase activity			skin(1)	1						ACCCCCTCCCGGGGGGACGTG	0.512													A	76842177	G	A	76842177	3	1	16	1	0	0	0	0	1	0	0	0	10127	1115	39	1	340	1	NAAA	4	76842177	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	5641130	76842177	114312099	334	12656											
SDAD1	55153	broad.mit.edu	37	chr4	76892547	76892547	+	Frame_Shift_Del	DEL	T	T	-													ccttttccaactttttcttgTttttggaacttttcttccct							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:76892547delT	uc003hje.3	-	9	895	c.776delA	c.(775-777)AACfs	p.N259fs	SDAD1_uc003hjf.3_Frame_Shift_Del_p.N162fs|SDAD1_uc011cbr.1_Frame_Shift_Del_p.N222fs	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	259	Potential.				protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			ovary(1)	1			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTTTTTCTTGTTTTTGGAACT	0.368													-	76892547	T	-	76892547	7	5	16	1	0	1	0	1	0	0	0	0	13950	1725	60	0	1343	0	SDAD1	4	76892547	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	50370	76892547	114261729	335	12657											
ANKRD56	345079	broad.mit.edu	37	chr4	77817102	77817102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttggctatccagtgcaacGcagtgtacccagtcaaaaag	10	10	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:77817102G>A	uc003hki.2	-	1	1901	c.1901C>T	c.(1900-1902)GCG>GTG	p.A634V		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	ankyrin repeat domain 56	634	ANK 1.										0						CCAGTGCAACGCAGTGTACCC	0.522													A	77817102	G	A	77817102	3	1	16	1	0	0	0	0	1	0	0	0	682	1087	38	1	484	1	ANKRD56	4	77817102	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	924555	77817102	113337174	336	12658											
FRAS1	80144	broad.mit.edu	37	chr4	79362354	79362354	+	Frame_Shift_Del	DEL	T	T	-													gcaccactctcatttcaccaTttttttgctactgatgatga							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:79362353_79362353AT>A	uc003hlb.2	+	40	6007	c.5567_5567AT>A	c.(5566-5568)catfs	p.H1856fs	FRAS1_uc003hkw.3_Frame_Shift_Del_p.H1856fs|FRAS1_uc010ijj.2_Frame_Shift_Del_p.H276fs	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1855					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCATTTCACCATTTTTTTGCT	0.418													-	79362354	T	-	79362354	7	5	16	1	0	1	0	1	0	0	0	0	6042	1490	52	0	5730	0	FRAS1	4	79362354	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	1545252	79362354	111791922	337	12659											
FRAS1	80144	broad.mit.edu	37	chr4	79371314	79371314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcttccaagggtctgtagCacgcatcacagaacagcact	8	13	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:79371314C>T	uc003hlb.2	+	45	6724	c.6284C>T	c.(6283-6285)GCA>GTA	p.A2095V		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2094	CSPG 9.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						GGGTCTGTAGCACGCATCACA	0.453													T	79371314	C	T	79371314	3	4	16	1	0	0	0	0	1	0	0	0	6042	710	25	2	6537	2	FRAS1	4	79371314	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	8960	79371314	111782962	338	12660											
PRDM8	56978	broad.mit.edu	37	chr4	81122567	81122567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacggacagctgttctacCgctctctccgcaggattgcc	9	14	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:81122567C>T	uc010ijo.2	+	7	1182	c.343C>T	c.(343-345)CGC>TGC	p.R115C	PRDM8_uc003hmb.3_Missense_Mutation_p.R115C|PRDM8_uc003hmc.3_Missense_Mutation_p.R115C	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	115	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						GCTGTTCTACCGCTCTCTCCG	0.498													T	81122567	C	T	81122567	3	4	16	1	0	0	0	0	1	0	0	0	12462	652	23	1	349	1	PRDM8	4	81122567	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1751253	81122567	110031709	339	12661											
BMP3	651	broad.mit.edu	37	chr4	81952623	81952623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctctgaacacatgctgcGgctctatgacaggtacagca	11	11	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:81952623G>A	uc003hmg.3	+	1	505	c.185G>A	c.(184-186)CGG>CAG	p.R62Q		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	62					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5						CACATGCTGCGGCTCTATGAC	0.687													A	81952623	G	A	81952623	3	1	16	1	0	0	0	0	1	0	0	0	1461	1116	39	1	187	1	BMP3	4	81952623	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	830056	81952623	109201653	340	12662											
SLC10A6	345274	broad.mit.edu	37	chr4	87754575	87754575	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaacaggttgtcatactgAtgctgaaagtaaaattaata	9	4	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:87754575A>G	uc003hqd.2	-	2	528	c.380T>C	c.(379-381)ATC>ACC	p.I127T		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	sodium-dependent organic anion transporter	127	Cytoplasmic (Potential).					integral to membrane|plasma membrane	bile acid:sodium symporter activity				0		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TGTCATACTGATGCTGAAAGT	0.438													G	87754575	A	G	87754575	3	3	16	1	0	0	0	0	1	0	0	0	14378	333	12	3	773	3	SLC10A6	4	87754575	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	5801952	87754575	103399701	341	12663											
KLHL8	57563	broad.mit.edu	37	chr4	88091757	88091757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctaaggaagccaaggCaattcctcgcctgcaaagac	9	14	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:88091757C>T	uc011cdb.1	-	7	1604	c.1219G>A	c.(1219-1221)GCC>ACC	p.A407T	KLHL8_uc003hql.1_Missense_Mutation_p.A407T|KLHL8_uc003hqm.1_Missense_Mutation_p.A331T|KLHL8_uc003hqn.1_Missense_Mutation_p.A224T|KLHL8_uc010ikj.1_Missense_Mutation_p.A56T	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	kelch-like 8	407	Kelch 2.										0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		GAAGCCAAGGCAATTCCTCGC	0.358													T	88091757	C	T	88091757	3	4	16	1	0	0	0	0	1	0	0	0	8395	710	25	2	659	2	KLHL8	4	88091757	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	337182	88091757	103062519	342	12664											
HERC5	51191	broad.mit.edu	37	chr4	89388315	89388315	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacgtgaccagctgatgccGcttccagtgaaagtatcatc	9	12	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:89388315G>A	uc003hrt.2	+	7	1170	c.1017G>A	c.(1015-1017)CCG>CCA	p.P339P	HERC5_uc011cdm.1_5'Flank	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	339	RCC1 5.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AGCTGATGCCGCTTCCAGTGA	0.393													A	89388315	G	A	89388315	2	1	16	1	0	0	0	0	0	0	0	1	7061	1074	38	1		1	HERC5	4	89388315	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1296558	89388315	101765961	343	12665											
PDHA2	5161	broad.mit.edu	37	chr4	96761964	96761964	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccttgtgttttcatctgtgaGaataacctatatggaatggg	10	6	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:96761964G>T	uc003htr.3	+	1	726	c.663G>T	c.(661-663)GAG>GAT	p.E221D		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	221					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TCATCTGTGAGAATAACCTAT	0.453													T	96761964	G	T	96761964	3	4	16	1	0	0	0	0	1	0	0	0	11665	933	33	5	665	5	PDHA2	4	96761964	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	7373649	96761964	94392312	344	12666											
TSPAN5	10098	broad.mit.edu	37	chr4	99397385	99397385	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ataccagcaacgatggttaaAttgtcctgcaaccacttctc	6	12	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:99397385A>T	uc003hub.2	-	7	1046	c.696T>A	c.(694-696)AAT>AAA	p.N232K	TSPAN5_uc011cdz.1_Missense_Mutation_p.N161K	NM_005723	NP_005714	P62079	TSN5_HUMAN	transmembrane 4 superfamily member 9	232	Extracellular (Potential).					integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		CGATGGTTAAATTGTCCTGCA	0.458													T	99397385	A	T	99397385	3	4	16	1	0	0	0	0	1	0	0	0	16647	98	4	5	118	5	TSPAN5	4	99397385	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	2635421	99397385	91756891	345	12667											
CXXC4	80319	broad.mit.edu	37	chr4	105411999	105412000	+	Frame_Shift_Del	DEL	CA	CA	-													cctgcaactgctgcagacgcCacagttgatgagcctcttgc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:105411998_105411999CCA>C	uc003hxg.3	-	0	469_470	c.454_455TGG>G	c.(454-456)ggcfs	p.G152fs	AK094561_uc003hxh.1_5'Flank|CXXC4_uc010ilo.3_Intron	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN	Homo sapiens CXXC finger protein 4 (CXXC4), mRNA.	152					Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		GCTGCAGACGCCACAGTTGATG	0.54													-	105412000	CA	-	105411999	7	5	16	1	0	1	0	1	0	0	0	0	4098	594	21	0	150	0	CXXC4	4	105411999	Frame_Shift_Del	DEL	CA	TCGA-BR-4292-01A-01D-1126-08	6014614	105411999	85742277	346	12668											
CASP6	839	broad.mit.edu	37	chr4	110618908	110618908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccattttgtacttttctgCcggatcaaacatttctctgt	6	10	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:110618908C>T	uc003hzn.1	-	3	178	c.100G>A	c.(100-102)GCA>ACA	p.A34T	CASP6_uc003hzo.1_Intron	NM_001226	NP_001217	P55212	CASP6_HUMAN	caspase 6 isoform alpha preproprotein	34					cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding			ovary(1)|breast(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		TACTTTTCTGCCGGATCAAAC	0.398													T	110618908	C	T	110618908	3	4	16	1	0	0	0	0	1	0	0	0	2675	739	26	2	801	2	CASP6	4	110618908	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	5206909	110618908	80535368	347	12669											
RRH	10692	broad.mit.edu	37	chr4	110757242	110757242	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgttttgggctttgatgccTatcatagggtgggctagtta	13	6	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:110757242T>C	uc003hzv.2	+	4	511	c.477T>C	c.(475-477)CCT>CCC	p.P159P		NM_006583	NP_006574	O14718	OPSX_HUMAN	peropsin	159	Helical; Name=4; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		CTTTGATGCCTATCATAGGGT	0.438													C	110757242	T	C	110757242	2	2	16	1	0	0	0	0	0	0	0	1	13680	1509	53	3		3	RRH	4	110757242	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	138334	110757242	80397034	348	12670											
AP1AR	55435	broad.mit.edu	37	chr4	113189356	113189356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacagaggaagacattctaCgggcagcacttaagtatagc	10	8	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:113189356C>T	uc003iaj.3	+	10	1053	c.700C>T	c.(700-702)CGG>TGG	p.R234W	AP1AR_uc003iak.3_Missense_Mutation_p.R201W	NM_018569	NP_061039	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated	234					protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle					0						AGACATTCTACGGGCAGCACT	0.388													T	113189356	C	T	113189356	3	4	16	1	0	0	0	0	1	0	0	0	730	527	19	1	738	1	AP1AR	4	113189356	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2432114	113189356	77964920	349	12671											
C4orf21	55345	broad.mit.edu	37	chr4	113462250	113462250	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aacattaatgtcatttacctGttctagtcctttaacattat	3	8	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:113462250G>C	uc003iau.2	-	25	5984	c.5773C>G	c.(5773-5775)CAG>GAG	p.Q1925E	C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_Missense_Mutation_p.Q383E	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	747						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TCATTTACCTGTTCTAGTCCT	0.363													C	113462250	G	C	113462250	3	2	16	1	0	0	0	0	1	0	0	0	2254	1386	48	5	557	5	C4orf21	4	113462250	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	272894	113462250	77692026	350	12672											
KIAA1109	84162	broad.mit.edu	37	chr4	123120560	123120560	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttacatgtggatgccacTaccagcatgcaatatcggac	8	12	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:123120560T>C	uc003ieh.2	+	12	1380	c.1335T>C	c.(1333-1335)ACT>ACC	p.T445T	KIAA1109_uc003iei.1_Silent_p.T199T|KIAA1109_uc010ins.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	445					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TGGATGCCACTACCAGCATGC	0.328													C	123120560	T	C	123120560	2	2	16	1	0	0	0	0	0	0	0	1	8208	1509	53	3		3	KIAA1109	4	123120560	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	9658310	123120560	68033716	351	12673											
IL21	59067	broad.mit.edu	37	chr4	123534051	123534052	+	Frame_Shift_Ins	INS	-	-	T													ctaggaattctttgggtggtINStttttctcataagaatcaca							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:123534050_123534051G>GT	uc003ies.2	-	3	438_439	c.393_394C>AC	c.(391-396)aaaccafs	p.K131fs	IL21_uc010int.3_Frame_Shift_Ins_p.K131fs	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN	Homo sapiens interleukin 21 (IL21), transcript variant 1, mRNA.	124					cell maturation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TCTTTGGGTGGTTTTTTCTCAT	0.287													T	123534052	-	T	123534051	7	5	16	1	0	1	1	0	0	0	0	0	7670	1722	60	0	103	0	IL21	4	123534051	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	413491	123534051	67620225	352	12674											
FAT4	79633	broad.mit.edu	37	chr4	126238642	126238642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaagttccgctacttccCggccacctcgcgctacgcct	9	17	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:126238642C>T	uc003ifj.3	+	1	1076	c.1076C>T	c.(1075-1077)CCG>CTG	p.P359L		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	359	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CGCTACTTCCCGGCCACCTCG	0.632											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	126238642	C	T	126238642	3	4	16	1	0	0	0	0	1	0	0	0	5692	652	23	1	1078	1	FAT4	4	126238642	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2704591	126238642	64915634	353	12675											
KLHL2	11275	broad.mit.edu	37	chr4	166238981	166238981	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtaattttttaaaggagTttgtgcagttaatggtctgt	10	3	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:166238981T>G	uc003irb.2	+	14	1872	c.1613T>G	c.(1612-1614)GTT>GGT	p.V538G	KLHL2_uc011cjm.1_Missense_Mutation_p.V542G|KLHL2_uc003irc.2_Missense_Mutation_p.V450G|KLHL2_uc010ira.2_Missense_Mutation_p.V191G	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	538	Kelch 5.				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TTTAAAGGAGTTTGTGCAGTT	0.343													G	166238981	T	G	166238981	3	3	16	1	0	0	0	0	1	0	0	0	8374	1725	60	5	1709	5	KLHL2	4	166238981	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	40000339	166238981	24915295	354	12676											
SPOCK3	50859	broad.mit.edu	37	chr4	167675677	167675677	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accttgctgtctctggaagcAgtagcaccactcattattag	8	11	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:167675677A>C	uc003iri.1	-	9	1063	c.922T>G	c.(922-924)TGC>GGC	p.C308G	SPOCK3_uc011cjp.1_Missense_Mutation_p.C265G|SPOCK3_uc011cjq.1_Missense_Mutation_p.C317G|SPOCK3_uc011cjr.1_Missense_Mutation_p.C188G|SPOCK3_uc003irj.1_Missense_Mutation_p.C305G|SPOCK3_uc011cjs.1_Missense_Mutation_p.C257G|SPOCK3_uc011cjt.1_Missense_Mutation_p.C216G|SPOCK3_uc011cju.1_Missense_Mutation_p.C201G|SPOCK3_uc011cjv.1_Missense_Mutation_p.C210G|SPOCK3_uc003irk.3_Missense_Mutation_p.C305G	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN	testican 3 isoform 2	308					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CTCTGGAAGCAGTAGCACCAC	0.348													C	167675677	A	C	167675677	3	2	16	1	0	0	0	0	1	0	0	0	15080	188	7	5	404	5	SPOCK3	4	167675677	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	1436696	167675677	23478599	355	12677											
DDX60	55601	broad.mit.edu	37	chr4	169190007	169190007	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaacttaatgcctactcGgtgagatgttcaggattact	9	7	1	2	rs145361158		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:169190007G>A	uc003irp.2	-	20	3076	c.2784C>T	c.(2782-2784)ACC>ACT	p.T928T		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	928	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATGCCTACTCGGTGAGATGTT	0.368													A	169190007	G	A	169190007	2	1	16	1	0	0	0	0	0	0	0	1	4378	1103	39	1		1	DDX60	4	169190007	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1514330	169190007	21964269	356	12678											
PALLD	23022	broad.mit.edu	37	chr4	169812119	169812119	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgctagaatagcctccgatGaggaaattcaaggcacaaag	10	9	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:169812119G>T	uc011cjx.1	+	11	2222	c.2011G>T	c.(2011-2013)GAG>TAG	p.E671*	CBR4_uc011cjy.1_Intron|PALLD_uc003iru.2_Nonsense_Mutation_p.E671*|PALLD_uc003irv.2_Nonsense_Mutation_p.E289*|PALLD_uc003irw.2_Nonsense_Mutation_p.E173*	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN	palladin isoform 2	895					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			ovary(1)	1		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AGCCTCCGATGAGGAAATTCA	0.443									Pancreatic_Cancer_Familial_Clustering_of				T	169812119	G	T	169812119	4	4	16	1	0	0	0	0	0	1	0	0	11407	1291	45	5	2556	5	PALLD	4	169812119	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	622112	169812119	21342157	357	12679											
NEK1	4750	broad.mit.edu	37	chr4	170345785	170345785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttattttttggtggtaaatgCgagtgagatcgaaatgcaaa	11	3	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:170345785C>T	uc003isb.1	-	29	3549	c.3057G>A	c.(3055-3057)TCG>TCA	p.S1019S	NEK1_uc003isc.1_Silent_p.S975S|NEK1_uc003isd.1_Silent_p.S1047S|NEK1_uc003ise.1_Silent_p.S1003S|NEK1_uc003isf.1_Silent_p.S950S	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1019					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(3)|ovary(2)|large_intestine(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		GTGGTAAATGCGAGTGAGATC	0.393													T	170345785	C	T	170345785	2	4	16	1	0	0	0	0	0	0	0	1	10321	755	27	1		1	NEK1	4	170345785	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	533666	170345785	20808491	358	12680											
FBXO8	26269	broad.mit.edu	37	chr4	175183955	175183955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcgcaaggtcctgccaaaCacatgaagccaagcaaaggt	9	11	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:175183955C>T	uc003itp.2	-	2	1139	c.289G>A	c.(289-291)GTT>ATT	p.V97I	FBXO8_uc003itq.2_Intron	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN	F-box only protein 8	97	F-box.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(2)	2		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		TCCTGCCAAACACATGAAGCC	0.413													T	175183955	C	T	175183955	3	4	16	1	0	0	0	0	1	0	0	0	5761	478	17	4	690	4	FBXO8	4	175183955	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	4838170	175183955	15970321	359	12681											
KIAA1712	80817	broad.mit.edu	37	chr4	175231156	175231158	+	In_Frame_Del	DEL	TCT	TCT	-													gatgaaaacacctggactaaTcttcttagtcgtgtcactct							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:175231156_175231158delTCT	uc003itr.2	+	8	1248_1250	c.834_836delTCT	c.(832-837)AATCTT>AAT	p.L280del	KIAA1712_uc010iro.2_In_Frame_Del_p.L280del|KIAA1712_uc003its.2_RNA	NM_001040157	NP_001035247	Q9C0F1	CEP44_HUMAN	HBV PreS1-transactivated protein 3 isoform a	280						centrosome|midbody|spindle pole					0		Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949)		CCTGGACTAATCTTCTTAGTCGT	0.305													-	175231158	TCT	-	175231156	7	5	16	1	0	1	0	1	0	0	0	0	8253	1432	50	0	856	0	KIAA1712	4	175231156	In_Frame_Del	DEL	TCT	TCGA-BR-4292-01A-01D-1126-08	47201	175231156	15923120	360	12682											
ODZ3	55714	broad.mit.edu	37	chr4	183600990	183600990	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctttttataatgatgggAaaaatgcagagcaggtgtct	12	4	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:183600990A>G	uc003ivd.1	+	7	1535	c.1498A>G	c.(1498-1500)AAA>GAA	p.K500E	ODZ3_uc003ive.1_5'Flank	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	500	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TAATGATGGGAAAAATGCAGA	0.448													G	183600990	A	G	183600990	3	3	16	1	0	0	0	0	1	0	0	0	10836	247	9	3	1524	3	ODZ3	4	183600990	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	8369834	183600990	7553286	361	12683											
IRF2	3660	broad.mit.edu	37	chr4	185339687	185339687	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctgtaaatgcctttaccTttcttagaaggccgttctga	8	9	3	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:185339687T>C	uc003iwf.3	-	4	563	c.363A>G	c.(361-363)AAA>AAG	p.K121K		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	121					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TGCCTTTACCTTTCTTAGAAG	0.398													C	185339687	T	C	185339687	2	2	16	1	0	0	0	0	0	0	0	1	7828	1623	56	3		3	IRF2	4	185339687	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	1738697	185339687	5814589	362	12684											
MTNR1A	4543	broad.mit.edu	37	chr4	187455100	187455100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcctaggcaccatgctggCggggtcagaggccacggcca	15	13	1	1	rs148793802		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr4:187455100C>T	uc003izd.1	-	2	814	c.796G>A	c.(796-798)GCC>ACC	p.A266T		NM_005958	NP_005949	P48039	MTR1A_HUMAN	melatonin receptor 1A	266	Extracellular (Potential).				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	ACCATGCTGGCGGGGTCAGAG	0.507													T	187455100	C	T	187455100	3	4	16	1	0	0	0	0	1	0	0	0	9951	768	27	1	260	1	MTNR1A	4	187455100	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2115413	187455100	3699176	363	12685											
SLC9A3	6550	broad.mit.edu	37	chr5	488455	488455	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgactgcgtcgttcagcagCgactccccgaagacgatgat	12	12	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:488455C>T	uc003jbe.2	-	3	763	c.651G>A	c.(649-651)TCG>TCA	p.S217S	SLC9A3_uc011clx.1_Silent_p.S217S	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	217	Helical; Name=G/M5B; (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGTTCAGCAGCGACTCCCCGA	0.667													T	488455	C	T	488455	2	4	16	1	0	0	0	0	0	0	0	1	14713	755	27	1		1	SLC9A3	5	488455	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08		488455	180426805	364	12686											
LPCAT1	79888	broad.mit.edu	37	chr5	1466903	1466903	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcttggtcaatggctcGgaataggtcggtcacggtga	13	10	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:1466903G>A	uc003jcm.2	-	13	1498	c.1381C>T	c.(1381-1383)CGA>TGA	p.R461*	LPCAT1_uc003jcl.2_Nonsense_Mutation_p.R35*	NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	461	Lumenal (Potential).|EF-hand 2.				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TCAATGGCTCGGAATAGGTCG	0.647													A	1466903	G	A	1466903	4	1	16	1	0	0	0	0	0	1	0	0	8910	1124	39	1	231	1	LPCAT1	5	1466903	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	978448	1466903	179448357	365	12687											
IRX4	50805	broad.mit.edu	37	chr5	1878859	1878859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcttccagcgggtcgaagtCgtccaagtcactaagctcca	10	13	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:1878859C>T	uc003jcz.2	-	5	903	c.784G>A	c.(784-786)GAC>AAC	p.D262N	IRX4_uc011cmf.1_Missense_Mutation_p.D123N	NM_016358	NP_057442	P78413	IRX4_HUMAN	iroquois homeobox 4	262					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(108;0.242)		GGGTCGAAGTCGTCCAAGTCA	0.672													T	1878859	C	T	1878859	3	4	16	1	0	0	0	0	1	0	0	0	7846	884	31	1	779	1	IRX4	5	1878859	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	411956	1878859	179036401	366	12688											
C5orf38	153571	broad.mit.edu	37	chr5	2752844	2752844	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaggagctcaggttggcGccgccggtgcagtgggcatt	19	10	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:2752844G>A	uc003jdc.2	+	2	426	c.309G>A	c.(307-309)GCG>GCA	p.A103A	C5orf38_uc011cmg.1_Silent_p.A103A|C5orf38_uc011cmh.1_RNA|C5orf38_uc011cmi.1_RNA|C5orf38_uc011cmj.1_Intron	NM_178569	NP_848664	Q86SI9	CEI_HUMAN	hypothetical protein LOC153571 precursor	103						extracellular region					0				GBM - Glioblastoma multiforme(108;0.205)		TCAGGTTGGCGCCGCCGGTGC	0.642													A	2752844	G	A	2752844	2	1	16	1	0	0	0	0	0	0	0	1	2296	1074	38	1		1	C5orf38	5	2752844	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	873985	2752844	178162416	367	12689											
ADCY2	108	broad.mit.edu	37	chr5	7709334	7709334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccccaagggagaacgacGgagcccccagcatctcttca	9	16	3	1	rs141886153	by1000genomes	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:7709334G>A	uc003jdz.1	+	10	1479	c.1412G>A	c.(1411-1413)CGG>CAG	p.R471Q	ADCY2_uc011cmo.1_Missense_Mutation_p.R291Q	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	471	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						GGAGAACGACGGAGCCCCCAG	0.587													A	7709334	G	A	7709334	3	1	16	1	0	0	0	0	1	0	0	0	294	1116	39	1	1450	1	ADCY2	5	7709334	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	4956490	7709334	173205926	368	12690											
ANKH	56172	broad.mit.edu	37	chr5	14769138	14769138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaccaccatacacaggaCggctttggtcctgtctctct	8	15	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:14769138C>T	uc003jfm.3	-	2	590	c.259G>A	c.(259-261)GTC>ATC	p.V87I		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	progressive ankylosis protein	87	Helical; (Potential).				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			upper_aerodigestive_tract(1)	1						ATACACAGGACGGCTTTGGTC	0.547													T	14769138	C	T	14769138	3	4	16	1	0	0	0	0	1	0	0	0	627	536	19	1	1263	1	ANKH	5	14769138	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	7059804	14769138	166146122	369	12691											
CDH6	1004	broad.mit.edu	37	chr5	31294199	31294199	+	Frame_Shift_Del	DEL	A	A	-													caagaggctggacagggaagAaaaacccgtttacatccttc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:31294199delA	uc003jhe.1	+	3	685	c.359delA	c.(358-360)GAAfs	p.E120fs	CDH6_uc003jhd.1_Frame_Shift_Del_p.E120fs	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	120	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						GACAGGGAAGAAAAACCCGTT	0.448													-	31294199	A	-	31294199	7	5	16	1	0	1	0	1	0	0	0	0	3114	246	9	0	365	0	CDH6	5	31294199	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	16525061	31294199	149621061	370	12692											
MTMR12	54545	broad.mit.edu	37	chr5	32230244	32230244	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgggcccctcgatatgcggTaacaacaaaccatggtagtc	10	12	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:32230244T>C	uc003jhq.2	-	16	2054	c.1884A>G	c.(1882-1884)TTA>TTG	p.L628L	MTMR12_uc010iuk.2_Silent_p.L574L|MTMR12_uc010iul.2_Silent_p.L518L	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	628	Myotubularin phosphatase.					cytoplasm	phosphatase activity			ovary(1)	1						CGATATGCGGTAACAACAAAC	0.488													C	32230244	T	C	32230244	2	2	16	1	0	0	0	0	0	0	0	1	9941	1635	57	3		3	MTMR12	5	32230244	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	936045	32230244	148685016	371	12693											
ZFR	51663	broad.mit.edu	37	chr5	32404048	32404048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgaatgtgggcagcatacGcatctgctcctgtacaagac	10	12	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:32404048G>A	uc003jhr.1	-	7	1267	c.1187C>T	c.(1186-1188)GCG>GTG	p.A396V		NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	396					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)		GGCAGCATACGCATCTGCTCC	0.448													A	32404048	G	A	32404048	3	1	16	1	0	0	0	0	1	0	0	0	17656	1087	38	1	2093	1	ZFR	5	32404048	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	173804	32404048	148511212	372	12694											
RAI14	26064	broad.mit.edu	37	chr5	34824014	34824014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactgatgcaattgacaaaCgtgtccagggctaaagcaga	10	8	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:34824014C>T	uc003jir.2	+	15	2263	c.2067C>T	c.(2065-2067)AAC>AAT	p.N689N	RAI14_uc010iur.2_Silent_p.N660N|RAI14_uc011coj.1_Silent_p.N689N|RAI14_uc003jis.2_Silent_p.N692N|RAI14_uc003jit.2_Silent_p.N689N|RAI14_uc011cok.1_Silent_p.N681N	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	689	Potential.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					AATTGACAAACGTGTCCAGGG	0.438													T	34824014	C	T	34824014	2	4	16	1	0	0	0	0	0	0	0	1	13008	535	19	1		1	RAI14	5	34824014	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2419966	34824014	146091246	373	12695											
FYB	2533	broad.mit.edu	37	chr5	39124357	39124358	+	Splice_Site	INS	-	-	A													cagtttttattacttacccaINSattgtttaggaggagcaggg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:39124356_39124357C>CA	uc003jls.3	-	11	2000	c.1933_splice	c.e11+1	p.D645_splice	FYB_uc003jlt.3_Splice_Site_p.D691_splice|FYB_uc003jlu.3_Splice_Site_p.D645_splice|FYB_uc011cpl.2_Splice_Site_p.D701_splice	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	645					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ATTACTTACCCAATTGTTTAGG	0.351													A	39124358	-	A	39124357	8	5	16	1	0	1	1	0	0	0	1	0	6124	131	5	0	448	0	FYB	5	39124357	Splice_Site	INS	-	TCGA-BR-4292-01A-01D-1126-08	4300343	39124357	141790903	374	12696											
HEATR7B2	133558	broad.mit.edu	37	chr5	41009422	41009422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgtcatcttctaactcaGtctccagtttgtctattaag	6	10	6	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:41009422G>A	uc003jmj.3	-	32	3870	c.3380C>T	c.(3379-3381)ACT>ATT	p.T1127I	HEATR7B2_uc003jmi.3_Missense_Mutation_p.T682I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1127	HEAT 12.						binding			ovary(6)|central_nervous_system(2)	8						TTCTAACTCAGTCTCCAGTTT	0.498													A	41009422	G	A	41009422	3	1	16	1	0	0	0	0	1	0	0	0	7035	1029	36	4	1421	4	HEATR7B2	5	41009422	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1885065	41009422	139905838	375	12697											
C6	729	broad.mit.edu	37	chr5	41181535	41181535	+	Frame_Shift_Del	DEL	A	A	-													ttcacttctctttgaggaatAaaaaattggtacactgaaag							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:41181534_41181534TA>T	uc003jmk.2	-	6	1064	c.854_854TA>A	c.(853-855)tatfs	p.Y285fs	C6_uc003jml.1_Frame_Shift_Del_p.Y285fs	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	285	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTTTGAGGAATAAAAAATTGG	0.368													-	41181535	A	-	41181535	7	5	16	1	0	1	0	1	0	0	0	0	2315	362	13	0	1999	0	C6	5	41181535	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	172113	41181535	139733725	376	12698											
C6	729	broad.mit.edu	37	chr5	41203323	41203323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgaagtacaagacagagcGtctggccatgccttgagagc	13	9	1	4	rs150931891	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:41203323G>A	uc003jmk.2	-	2	220	c.10C>T	c.(10-12)CGC>TGC	p.R4C	C6_uc003jml.1_Missense_Mutation_p.R4C	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	4					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AAGACAGAGCGTCTGGCCATG	0.463													A	41203323	G	A	41203323	3	1	16	1	0	0	0	0	1	0	0	0	2315	1145	40	1	2862	1	C6	5	41203323	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	21788	41203323	139711937	377	12699											
MGC42105	167359	broad.mit.edu	37	chr5	43280635	43280635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattacagaagagcatattcGaaataaccaagggagagatg	10	6	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:43280635G>A	uc003jno.2	+	4	1996	c.1115G>A	c.(1114-1116)CGA>CAA	p.R372Q		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	serine/threonine-protein kinase NIM1	372							ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R372*(2)		lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1)	9						GAGCATATTCGAAATAACCAA	0.423													A	43280635	G	A	43280635	3	1	16	1	0	0	0	0	1	0	0	0	9552	1058	37	1	1125	1	MGC42105	5	43280635	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2077312	43280635	137634625	378	12700											
PELO	53918	broad.mit.edu	37	chr5	52096812	52096812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtccaggctatccagcGccacatacactttgatgttg	11	11	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:52096812G>A	uc003jos.2	+	2	1569	c.584G>A	c.(583-585)CGC>CAC	p.R195H	ITGA1_uc003jov.2_Intron|ITGA1_uc003jou.2_Intron|PELO_uc003jot.1_Intron	NM_015946	NP_057030	Q9BRX2	PELO_HUMAN	pelota homolog	195					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding				0		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GCTATCCAGCGCCACATACAC	0.522													A	52096812	G	A	52096812	3	1	16	1	0	0	0	0	1	0	0	0	11724	1087	38	1	586	1	PELO	5	52096812	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	8816177	52096812	128818448	379	12701											
HTR1A	3350	broad.mit.edu	37	chr5	63256991	63256991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccttgctaatggtgcatgCgtcggggtccgagcggtctt	14	10	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:63256991C>T	uc011cqt.1	-	1	556	c.556G>A	c.(556-558)GCA>ACA	p.A186T		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	186	Extracellular (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ATGGTGCATGCGTCGGGGTCC	0.572													T	63256991	C	T	63256991	3	4	16	1	0	0	0	0	1	0	0	0	7436	768	27	1	715	1	HTR1A	5	63256991	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	11160179	63256991	117658269	380	12702											
SFRS12	140890	broad.mit.edu	37	chr5	65473381	65473381	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagagaaaaagaaagggaCcacatcagtgaaagaagaga	12	4	1	6			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:65473381C>T	uc003juo.2	+	12	1932	c.1272C>T	c.(1270-1272)GAC>GAT	p.D424D	SFRS12_uc003jun.2_Silent_p.D540D|SFRS12_uc010iwy.2_Silent_p.D423D	NM_139168	NP_631907	Q8WXA9	SREK1_HUMAN	splicing factor, arginine/serine-rich 12 isoform	424	Arg/Glu/Lys/Ser-rich.				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding				0		Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234)		Lung(70;0.00449)		AAGAAAGGGACCACATCAGTG	0.333													T	65473381	C	T	65473381	2	4	16	1	0	0	0	0	0	0	0	1	14167	506	18	4		4	SFRS12	5	65473381	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2216390	65473381	115441879	381	12703											
ZNF366	167465	broad.mit.edu	37	chr5	71756348	71756348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgctgcatcatgtggcGcttcaggtggctggtctggg	17	9	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:71756348G>A	uc003kce.1	-	2	1162	c.976C>T	c.(976-978)CGC>TGC	p.R326C		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	326	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		ATCATGTGGCGCTTCAGGTGG	0.657													A	71756348	G	A	71756348	3	1	16	1	0	0	0	0	1	0	0	0	17867	1087	38	1	1274	1	ZNF366	5	71756348	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	6282967	71756348	109158912	382	12704											
TNPO1	3842	broad.mit.edu	37	chr5	72173171	72173174	+	Frame_Shift_Del	DEL	TAAG	TAAG	-													gtactcgtaaggcatcttccTaagtaagtgttccctcttat							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:72173170_72173173CTAAG>C	uc003kck.4	+	8	1064_1067	c.917_920CTAAG>C	c.(916-921)cctaagfs	p.P306fs	TNPO1_uc011csi.1_Non-coding_Transcript|TNPO1_uc011csj.1_Frame_Shift_Del_p.P256fs|TNPO1_uc003kci.4_Frame_Shift_Del_p.P298fs|TNPO1_uc003kcg.4_Frame_Shift_Del_p.P298fs|MIR4804_uc021yal.1_5'Flank	NM_002270	NP_694858	Q92973	TNPO1_HUMAN	Homo sapiens transportin 1 (TNPO1), transcript variant 1, mRNA.	306					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AGGCATCTTCCTAAGTAAGTGTTC	0.343													-	72173174	TAAG	-	72173171	7	5	16	1	0	1	0	1	0	0	0	0	16332	1509	53	0	952	0	TNPO1	5	72173171	Frame_Shift_Del	DEL	TAAG	TCGA-BR-4292-01A-01D-1126-08	416823	72173171	108742089	383	12705											
FCHO2	115548	broad.mit.edu	37	chr5	72377779	72377779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagtggatggaggagtaaCgaacatgcagtcccttcccc	11	12	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:72377779C>T	uc003kcl.2	+	23	2266	c.2150C>T	c.(2149-2151)ACG>ATG	p.T717M	FCHO2_uc011csl.1_Missense_Mutation_p.T684M|FCHO2_uc010izb.2_Missense_Mutation_p.T145M|FCHO2_uc011csn.1_Missense_Mutation_p.T145M	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2 isoform a	717										ovary(1)	1		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GGAGGAGTAACGAACATGCAG	0.423													T	72377779	C	T	72377779	3	4	16	1	0	0	0	0	1	0	0	0	5788	536	19	1	2240	1	FCHO2	5	72377779	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	204608	72377779	108537481	384	12706											
UTP15	84135	broad.mit.edu	37	chr5	72868406	72868406	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaccgtgacatgtttatgtCtaagcagctctggacagagg	11	8	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:72868406C>T	uc003kcw.1	+	7	989	c.766C>T	c.(766-768)CTA>TTA	p.L256L	UTP15_uc011cso.1_Silent_p.L237L|UTP15_uc011csp.1_Silent_p.L66L|UTP15_uc010ize.1_Silent_p.L256L	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein,	256	WD 6.				rRNA processing	cytoplasm|nucleolus					0		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		ATGTTTATGTCTAAGCAGCTC	0.353													T	72868406	C	T	72868406	2	4	16	1	0	0	0	0	0	0	0	1	17094	912	32	4		4	UTP15	5	72868406	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	490627	72868406	108046854	385	12707											
HOMER1	9456	broad.mit.edu	37	chr5	78697766	78697766	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgataggcagcaagttGctgtttccattgtttcacat	8	9	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:78697766G>A	uc003kfy.2	-	6	1743	c.640C>T	c.(640-642)CAA>TAA	p.Q214*	HOMER1_uc010jab.2_Intron|HOMER1_uc010jac.2_Intron|HOMER1_uc010jad.2_Nonsense_Mutation_p.Q40*	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	homer 1	214	Potential.				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane					0		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		GCAGCAAGTTGCTGTTTCCAT	0.478													A	78697766	G	A	78697766	4	1	16	1	0	0	0	0	0	1	0	0	7278	1328	46	2	440	2	HOMER1	5	78697766	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	5829360	78697766	102217494	386	12708											
CMYA5	202333	broad.mit.edu	37	chr5	79030050	79030050	+	Frame_Shift_Del	DEL	A	A	-													ttctgacctccttgtagaacAaaaaaagacagaaaaagcac							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:79030050delA	uc003kgc.2	+	2	5534	c.5462delA	c.(5461-5463)CAAfs	p.Q1821fs		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1821						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTTGTAGAACAAAAAAAGACA	0.383													-	79030050	A	-	79030050	7	5	16	1	0	1	0	1	0	0	0	0	3590	130	5	0	5468	0	CMYA5	5	79030050	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	332284	79030050	101885210	387	12709											
ACOT12	134526	broad.mit.edu	37	chr5	80667576	80667576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcctcttacctccatgCttgtgctgaatgctctagta	9	11	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:80667576C>T	uc003khl.3	-	3	306	c.251G>A	c.(250-252)AGC>AAC	p.S84N	RNU5E_uc011cto.1_Intron|ACOT12_uc003khm.2_Missense_Mutation_p.S84N	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	84	Coenzyme A binding.|Acyl coenzyme A hydrolase 1.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(1)|kidney(1)	2		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TACCTCCATGCTTGTGCTGAA	0.398													T	80667576	C	T	80667576	3	4	16	1	0	0	0	0	1	0	0	0	150	797	28	2	1468	2	ACOT12	5	80667576	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1637526	80667576	100247684	388	12710											
RASA1	5921	broad.mit.edu	37	chr5	86675571	86675571	+	Frame_Shift_Del	DEL	A	A	-													gttaagtccatcaaagttagAaaaaaatgaagatgtgaaca							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:86675571delA	uc003kiw.2	+	19	2625	c.2507delA	c.(2506-2508)GAAfs	p.E836fs	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Frame_Shift_Del_p.E659fs|RASA1_uc011ctv.1_Frame_Shift_Del_p.E669fs|RASA1_uc011ctw.1_Frame_Shift_Del_p.E670fs|RASA1_uc010jaw.2_Frame_Shift_Del_p.E658fs	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	836	Ras-GAP.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TCAAAGTTAGAAAAAAATGAA	0.308													-	86675571	A	-	86675571	7	5	16	1	0	1	0	1	0	0	0	0	13060	246	9	0	2593	0	RASA1	5	86675571	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	6007995	86675571	94239689	389	12711											
CETN3	1070	broad.mit.edu	37	chr5	89701581	89701581	+	Frame_Shift_Del	DEL	T	T	-													agaatcttcagtacatcagcTttttttacatcaaaccccaa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:89701580_89701580CT>C	uc003kjo.3	-	2	315	c.190_190AG>G	c.(190-192)gctfs	p.A64fs		NM_004365	NP_004356	O15182	CETN3_HUMAN	Homo sapiens centrin, EF-hand protein, 3 (CETN3), mRNA.	64	EF-hand 2.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		AGTACATCAGCTTTTTTTACA	0.313													-	89701581	T	-	89701581	7	5	16	1	0	1	0	1	0	0	0	0	3276	1606	56	0	326	0	CETN3	5	89701581	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	3026010	89701581	91213679	390	12712											
GPR98	84059	broad.mit.edu	37	chr5	89923028	89923028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttatattcctttaacagGtaccagaaaatgatgaaata	6	5	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:89923028G>A	uc003kju.2	+	7	769	c.673G>A	c.(673-675)GTA>ATA	p.V225I	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	225	Calx-beta 2.|Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCTTTAACAGGTACCAGAAAA	0.318													A	89923028	G	A	89923028	3	1	16	1	0	0	0	0	1	0	0	0	6721	1275	44	4	699	4	GPR98	5	89923028	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	221447	89923028	90992232	391	12713											
GPR98	84059	broad.mit.edu	37	chr5	90015894	90015894	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatctgccatattagacacGgaaccagaaatggatgagta	9	7	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:90015894G>A	uc003kju.2	+	44	9573	c.9477G>A	c.(9475-9477)ACG>ACA	p.T3159T	GPR98_uc003kjt.2_Silent_p.T865T|GPR98_uc003kjv.2_Silent_p.T759T	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3159	Extracellular (Potential).|Calx-beta 22.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATTAGACACGGAACCAGAAA	0.363													A	90015894	G	A	90015894	2	1	16	1	0	0	0	0	0	0	0	1	6721	1103	39	1		1	GPR98	5	90015894	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	92866	90015894	90899366	392	12714											
NR2F1	7025	broad.mit.edu	37	chr5	92923762	92923762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgagccctaccccacgtcGcgctacggcagccagtgcat	11	18	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:92923762G>A	uc003kkj.2	+	2	2290	c.603G>A	c.(601-603)TCG>TCA	p.S201S		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	201					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		ACCCCACGTCGCGCTACGGCA	0.667													A	92923762	G	A	92923762	2	1	16	1	0	0	0	0	0	0	0	1	10627	1074	38	1		1	NR2F1	5	92923762	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2907868	92923762	87991498	393	12715											
TSSK1B	83942	broad.mit.edu	37	chr5	112769462	112769462	+	Frame_Shift_Del	DEL	G	G	-													ccgcgtctctggaggctgttGggggggcccttcctctgtct							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:112769462delG	uc003kqm.2	-	1	1267	c.1075delC	c.(1075-1077)CAAfs	p.Q359fs	MCC_uc003kql.3_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1	359					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|skin(2)|stomach(1)	5		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GGAGGCTGTTGGGGGGGCCCT	0.597													-	112769462	G	-	112769462	7	5	16	1	0	1	0	1	0	0	0	0	16665	1357	47	0	32	0	TSSK1B	5	112769462	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	19845700	112769462	68145798	394	12716											
KCNN2	3781	broad.mit.edu	37	chr5	113822813	113822813	+	Frame_Shift_Del	DEL	A	A	-													acaaaaatacaaagctagtgAaaaagatagatcatgcaaaa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:113822813delA	uc003kqo.2	+	6	1778	c.1321delA	c.(1321-1323)AAAfs	p.K441fs	KCNN2_uc003kqp.2_Frame_Shift_Del_p.K93fs|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	441	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		AAAGCTAGTGAAAAAGATAGA	0.323													-	113822813	A	-	113822813	7	5	16	1	0	1	0	1	0	0	0	0	8079	247	9	0	1343	0	KCNN2	5	113822813	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	1053351	113822813	67092447	395	12717											
AQPEP	206338	broad.mit.edu	37	chr5	115299005	115299005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacaccgaccagggcgagCgcaggtaagggctgtacagc	14	12	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:115299005C>T	uc003kro.2	+	1	855	c.691C>T	c.(691-693)CGC>TGC	p.R231C	AQPEP_uc003krp.2_RNA|uc003krn.1_5'Flank	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	231	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						CCAGGGCGAGCGCAGGTAAGG	0.672													T	115299005	C	T	115299005	3	4	16	1	0	0	0	0	1	0	0	0	834	768	27	1	693	1	AQPEP	5	115299005	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1476192	115299005	65616255	396	12718											
SNCAIP	9627	broad.mit.edu	37	chr5	121776408	121776408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggatggcaacagtgccGttcacgtagcctcacagcat	10	13	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:121776408G>A	uc003ksw.1	+	7	1587	c.1381G>A	c.(1381-1383)GTT>ATT	p.V461I	SNCAIP_uc011cwl.1_Missense_Mutation_p.V19I|SNCAIP_uc010jct.2_Missense_Mutation_p.V461I|SNCAIP_uc003ksx.1_Missense_Mutation_p.V508I|SNCAIP_uc003ksy.1_Missense_Mutation_p.V95I|SNCAIP_uc003ksz.1_Missense_Mutation_p.V95I|SNCAIP_uc010jcu.2_Missense_Mutation_p.V57I|SNCAIP_uc011cwm.1_Missense_Mutation_p.V95I|SNCAIP_uc003kta.1_Missense_Mutation_p.V93I|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.V155I|SNCAIP_uc010jcx.1_Missense_Mutation_p.V401I|uc003ktb.1_Intron	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	461	ANK 4.				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAACAGTGCCGTTCACGTAGC	0.428													A	121776408	G	A	121776408	3	1	16	1	0	0	0	0	1	0	0	0	14841	1145	40	1	1403	1	SNCAIP	5	121776408	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	6477403	121776408	59138852	397	12719											
ZNF608	57507	broad.mit.edu	37	chr5	123984642	123984642	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatttgggggtgtccttcGtccgctggcattgaggctgc	14	10	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:123984642G>A	uc003ktq.1	-	4	1558	c.1435C>T	c.(1435-1437)CGA>TGA	p.R479*	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Nonsense_Mutation_p.R479*|ZNF608_uc003ktt.1_Nonsense_Mutation_p.R479*	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	479						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GGTGTCCTTCGTCCGCTGGCA	0.577													A	123984642	G	A	123984642	4	1	16	1	0	0	0	0	0	1	0	0	18031	1153	40	1	3127	1	ZNF608	5	123984642	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2208234	123984642	56930618	398	12720											
PRRC1	133619	broad.mit.edu	37	chr5	126874760	126874760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacggatagatagcttgcGtcgaactggggtgatccatg	15	7	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:126874760G>A	uc003kuk.2	+	7	1130	c.950G>A	c.(949-951)CGT>CAT	p.R317H	PRRC1_uc003kuj.3_Missense_Mutation_p.R317H	NM_130809	NP_570721	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	317						Golgi apparatus					0		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		GATAGCTTGCGTCGAACTGGG	0.373													A	126874760	G	A	126874760	3	1	16	1	0	0	0	0	1	0	0	0	12604	1145	40	1	972	1	PRRC1	5	126874760	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2890118	126874760	54040500	399	12721											
P4HA2	8974	broad.mit.edu	37	chr5	131543466	131543466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgacatcgtagtacctgaCgatgtgcgggctgtcccact	11	12	0	2	rs148040234		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:131543466C>T	uc003kwh.2	-	8	1579	c.1015G>A	c.(1015-1017)GTC>ATC	p.V339I	P4HA2_uc003kwg.2_Missense_Mutation_p.V339I|P4HA2_uc003kwi.2_Missense_Mutation_p.V339I|P4HA2_uc003kwk.2_Missense_Mutation_p.V339I|P4HA2_uc003kwl.2_Missense_Mutation_p.V339I|P4HA2_uc003kwj.2_Missense_Mutation_p.V339I	NM_004199	NP_004190	O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha II subunit isoform 1	339						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding				0		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TAGTACCTGACGATGTGCGGG	0.527													T	131543466	C	T	131543466	3	4	16	1	0	0	0	0	1	0	0	0	11357	536	19	1	688	1	P4HA2	5	131543466	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	4668706	131543466	49371794	400	12722											
PDLIM4	8572	broad.mit.edu	37	chr5	131606656	131606656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaggcaccgggactgggCcagaagatggcagaccaagc	14	13	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:131606656C>T	uc003kwn.2	+	4	453	c.376C>T	c.(376-378)CCA>TCA	p.P126S	uc003kwm.3_Intron|PDLIM4_uc003kwp.2_Missense_Mutation_p.P126S|PDLIM4_uc003kwo.2_Missense_Mutation_p.P126S	NM_003687	NP_003678	P50479	PDLI4_HUMAN	PDZ and LIM domain 4 isoform 1	126							protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGGGACTGGGCCAGAAGATGG	0.627													T	131606656	C	T	131606656	3	4	16	1	0	0	0	0	1	0	0	0	11682	739	26	2	390	2	PDLIM4	5	131606656	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	63190	131606656	49308604	401	12723											
RAD50	10111	broad.mit.edu	37	chr5	131953826	131953826	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcataatttggcattagggCgacagaaaggttatgaagaa	11	4	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:131953826C>T	uc003kxi.2	+	21	3616	c.3229C>T	c.(3229-3231)CGA>TGA	p.R1077*	RAD50_uc003kxh.2_Nonsense_Mutation_p.R938*	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	1077	Potential.				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGCATTAGGGCGACAGAAAGG	0.318								Homologous_recombination					T	131953826	C	T	131953826	4	4	16	1	0	0	0	0	0	1	0	0	12984	760	27	1	3311	1	RAD50	5	131953826	Nonsense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	347170	131953826	48961434	402	12724											
SEPT8	23176	broad.mit.edu	37	chr5	132096640	132096642	+	In_Frame_Del	DEL	CTC	CTC	-													ttttcctccaccttgcgcttCtcctcctggtggacccgctt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:132096639_132096641TCTC>T	uc003kxr.2	-	8	1377_1379	c.1139_1141GAGA>A	c.(1138-1143)gagaag>gAag	p.K381del	SEPT8_uc003kxs.1_In_Frame_Del_p.K381del|SEPT8_uc003kxu.2_In_Frame_Del_p.K381del|SEPT8_uc011cxi.1_In_Frame_Del_p.K379del|SEPT8_uc003kxv.2_In_Frame_Del_p.K379del|SEPT8_uc003kxt.2_In_Frame_Del_p.K321del	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	Homo sapiens septin 8 (SEPT8), transcript variant 1, mRNA.	381					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCTTGCGCTTCTCCTCCTGGTG	0.626													-	132096642	CTC	-	132096640	7	5	16	1	0	1	0	1	0	0	0	0	14070	912	32	0	374	0	SEPT8	5	132096640	In_Frame_Del	DEL	CTC	TCGA-BR-4292-01A-01D-1126-08	142814	132096640	48818620	403	12725											
TRPC7	57113	broad.mit.edu	37	chr5	135692750	135692750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgatggccagcagcagcGcgtcccccacccgtgccagg	13	17	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:135692750G>A	uc003lbn.1	-	1	326	c.323C>T	c.(322-324)GCG>GTG	p.A108V	TRPC7_uc010jef.1_Missense_Mutation_p.A100V|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.A100V|TRPC7_uc010jei.1_Missense_Mutation_p.A100V|TRPC7_uc010jej.1_5'UTR	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	109	Cytoplasmic (Potential).|ANK 3.				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAGCAGCAGCGCGTCCCCCAC	0.667													A	135692750	G	A	135692750	3	1	16	1	0	0	0	0	1	0	0	0	16581	1087	38	1	2306	1	TRPC7	5	135692750	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	3596110	135692750	45222510	404	12726											
FAM13B	51306	broad.mit.edu	37	chr5	137278577	137278577	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacatacatagaagctgctcGagaacttgacaatcggagat	9	8	0	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:137278577G>A	uc003lbz.2	-	21	3043	c.2509C>T	c.(2509-2511)CGA>TGA	p.R837*	FAM13B_uc003lcb.2_Nonsense_Mutation_p.R713*|FAM13B_uc003lca.2_Nonsense_Mutation_p.R809*	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	hypothetical protein LOC51306 isoform 1	837					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						GAAGCTGCTCGAGAACTTGAC	0.328													A	137278577	G	A	137278577	4	1	16	1	0	0	0	0	0	1	0	0	5453	1066	37	1	250	1	FAM13B	5	137278577	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1585827	137278577	43636683	405	12727											
FAM13B	51306	broad.mit.edu	37	chr5	137289904	137289904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccaacttttctggatcatGtaggaaacgctggctttgac	9	9	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:137289904G>A	uc003lbz.2	-	14	2137	c.1603C>T	c.(1603-1605)CAT>TAT	p.H535Y	FAM13B_uc003lcb.2_Missense_Mutation_p.H439Y|FAM13B_uc003lca.2_Missense_Mutation_p.H535Y	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	hypothetical protein LOC51306 isoform 1	535					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						TCTGGATCATGTAGGAAACGC	0.403													A	137289904	G	A	137289904	3	1	16	1	0	0	0	0	1	0	0	0	5453	1377	48	4	1184	4	FAM13B	5	137289904	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	11327	137289904	43625356	406	12728											
WNT8A	7478	broad.mit.edu	37	chr5	137420203	137420203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcctatctgacctacaCgactagtgtggccttgggtg	12	12	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:137420203C>T	uc003lcd.1	+	3	124	c.119C>T	c.(118-120)ACG>ATG	p.T40M	BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Missense_Mutation_p.T58M|WNT8A_uc011cyk.1_Missense_Mutation_p.T58M	NM_058244	NP_490645	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family,	40					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			ovary(1)|lung(1)|breast(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTGACCTACACGACTAGTGTG	0.577													T	137420203	C	T	137420203	3	4	16	1	0	0	0	0	1	0	0	0	17393	536	19	1	129	1	WNT8A	5	137420203	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	130299	137420203	43495057	407	12729											
NRG2	9542	broad.mit.edu	37	chr5	139251390	139251390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgtctcgttgcacttcCgggcgtgccccgaccaggat	13	14	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:139251390C>T	uc003lex.1	-	4	1253	c.1028G>A	c.(1027-1029)CGG>CAG	p.R343Q	NRG2_uc003lev.1_Missense_Mutation_p.R343Q|NRG2_uc003lew.1_Missense_Mutation_p.R343Q|NRG2_uc003ley.1_Missense_Mutation_p.R343Q	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	343	EGF-like.|Extracellular (Potential).				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|breast(2)|ovary(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGCACTTCCGGGCGTGCCC	0.567													T	139251390	C	T	139251390	3	4	16	1	0	0	0	0	1	0	0	0	10648	652	23	1	1643	1	NRG2	5	139251390	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1831187	139251390	41663870	408	12730											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139892956	139892957	+	Frame_Shift_Ins	INS	-	-	A													tcctgctgtaggaactgttgINSaaaaaatgtcatcaatgtgt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:139892956_139892957insA	uc003lfs.1	+	24	4333_4334	c.4209_4210insA	c.(4207-4212)TTGAAAfs	p.L1403fs	ANKHD1_uc003lfq.1_Frame_Shift_Ins_p.L1422fs|ANKHD1_uc003lfr.2_Frame_Shift_Ins_p.L1403fs|ANKHD1_uc003lft.1_Frame_Shift_Ins_p.L614fs|ANKHD1_uc003lfu.1_Frame_Shift_Ins_p.L883fs|ANKHD1_uc003lfv.1_Frame_Shift_Ins_p.L480fs|ANKHD1-EIF4EBP3_uc011czh.1_Frame_Shift_Ins_p.L142fs|ANKHD1_uc003lfw.2_Frame_Shift_Ins_p.L41fs	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1403_1404						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAACTGTTGAAAAAATGTCA	0.347													A	139892957	-	A	139892956	7	5	16	1	0	1	1	0	0	0	0	0	629	1281	45	0	4303	0	ANKHD1-EIF4EBP3	5	139892956	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	641566	139892956	41022304	409	12731	35	2									
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139892957	139892958	+	Frame_Shift_Ins	INS	-	-	A													cctgctgtaggaactgttgaINSaaaaatgtcatcaatgtgtc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:139892956_139892957G>GA	uc003lfs.2	+	23	4363_4364	c.4209_4210G>GA	c.(4207-4212)ttgaaafs	p.L1403fs	ANKHD1-EIF4EBP3_uc003lfq.2_Frame_Shift_Ins_p.L1422fs|ANKHD1-EIF4EBP3_uc003lfr.3_Frame_Shift_Ins_p.L1403fs|ANKHD1-EIF4EBP3_uc003lft.1_Frame_Shift_Ins_p.L614fs|ANKHD1-EIF4EBP3_uc003lfu.1_Frame_Shift_Ins_p.L883fs|ANKHD1-EIF4EBP3_uc003lfv.1_Frame_Shift_Ins_p.L480fs|ANKHD1-EIF4EBP3_uc011czh.1_Frame_Shift_Ins_p.L142fs|ANKHD1-EIF4EBP3_uc003lfw.3_Frame_Shift_Ins_p.L41fs	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1403						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAACTGTTGAAAAAATGTCA	0.347													A	139892958	-	A	139892957	7	5	16	1	0	1	1	0	0	0	0	0	629	247	9	0	4304	0	ANKHD1-EIF4EBP3	5	139892957	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1	139892957	41022303	410	12732	35	2									
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139905920	139905920	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagtagcagtggtggtaaaaGccaagagttaaattttgtga	13	3	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:139905920G>C	uc003lfs.1	+	26	4956	c.4832G>C	c.(4831-4833)AGC>ACC	p.S1611T	ANKHD1_uc003lfr.2_Missense_Mutation_p.S1611T|ANKHD1_uc003lfu.1_Missense_Mutation_p.S1091T|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.S350T|ANKHD1_uc003lfw.2_Missense_Mutation_p.S249T|ANKHD1_uc010jfl.2_Missense_Mutation_p.S46T|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1611						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGTAAAAGCCAAGAGTTA	0.428													C	139905920	G	C	139905920	3	2	16	1	0	0	0	0	1	0	0	0	629	971	34	5	4934	5	ANKHD1-EIF4EBP3	5	139905920	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	12963	139905920	41009340	411	12733											
PCDHA1	56147	broad.mit.edu	37	chr5	140166534	140166534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccactgatgggggcaaacCggagctgcaaggtacagttg	15	9	0	1	rs149577981	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:140166534C>T	uc003lhb.2	+	1	659	c.659C>T	c.(658-660)CCG>CTG	p.P220L	PCDHA1_uc003lha.2_Missense_Mutation_p.P220L|PCDHA1_uc003lgz.2_Missense_Mutation_p.P220L	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	220	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGGCAAACCGGAGCTGCAA	0.458													T	140166534	C	T	140166534	3	4	16	1	0	0	0	0	1	0	0	0	11519	652	23	1	661	1	PCDHA1	5	140166534	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	260614	140166534	40748726	412	12734											
PCDHA1	56147	broad.mit.edu	37	chr5	140167731	140167731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggcagcaggcggcgcgcGcatcccgttccgcgtggggc	18	16	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:140167731G>A	uc003lhb.2	+	1	1856	c.1856G>A	c.(1855-1857)CGC>CAC	p.R619H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.R619H	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	619	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGCGCGCGCATCCCGTTC	0.667													A	140167731	G	A	140167731	3	1	16	1	0	0	0	0	1	0	0	0	11519	1087	38	1	1858	1	PCDHA1	5	140167731	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1197	140167731	40747529	413	12735											
PCDHA3	56145	broad.mit.edu	37	chr5	140182842	140182842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcgtccgctggcgccaCgggcccggaagctgcactgg	16	16	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:140182842C>T	uc003lhf.2	+	1	2060	c.2060C>T	c.(2059-2061)ACG>ATG	p.T687M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.T687M	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	687	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGCGCCACGGGCCCGGAA	0.632													T	140182842	C	T	140182842	3	4	16	1	0	0	0	0	1	0	0	0	11525	536	19	1	2062	1	PCDHA3	5	140182842	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	15111	140182842	40732418	414	12736											
PCDHA5	56143	broad.mit.edu	37	chr5	140202765	140202765	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgaaggagaacaacccgCcaggctgccacatcttcacg	10	14	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:140202765C>A	uc003lhl.2	+	1	1405	c.1405C>A	c.(1405-1407)CCA>ACA	p.P469T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.P469T|PCDHA5_uc003lhj.1_Missense_Mutation_p.P469T	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	469	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACAACCCGCCAGGCTGCCA	0.677													A	140202765	C	A	140202765	3	1	16	1	0	0	0	0	1	0	0	0	11527	739	26	5	1407	5	PCDHA5	5	140202765	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	19923	140202765	40712495	415	12737											
PCDHA6	56142	broad.mit.edu	37	chr5	140209889	140209889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacggcggacaagcccaCgctggtgtgctccagcgcag	15	14	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:140209889C>T	uc003lho.2	+	1	2240	c.2213C>T	c.(2212-2214)ACG>ATG	p.T738M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.T738M	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	738	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAAGCCCACGCTGGTGTGC	0.692													T	140209889	C	T	140209889	3	4	16	1	0	0	0	0	1	0	0	0	11528	536	19	1	2215	1	PCDHA6	5	140209889	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	7124	140209889	40705371	416	12738											
PCDHA7	56141	broad.mit.edu	37	chr5	140215576	140215576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttgcagttccaggtgagCgcgcgcgatgcgggcgtgcc	17	12	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:140215576C>T	uc003lhq.2	+	1	1608	c.1608C>T	c.(1606-1608)AGC>AGT	p.S536S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.S536S	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	536	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGGTGAGCGCGCGCGATG	0.682													T	140215576	C	T	140215576	2	4	16	1	0	0	0	0	0	0	0	1	11529	767	27	1		1	PCDHA7	5	140215576	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	5687	140215576	40699684	417	12739											
PCDHA13	56136	broad.mit.edu	37	chr5	140263515	140263515	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacgtgacgctgcaggtgttCgtgctggacgagaacgacaa	14	9	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:140263515C>T	uc003lif.2	+	1	1662	c.1662C>T	c.(1660-1662)TTC>TTT	p.F554F	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.F554F|PCDHA13_uc003lid.2_Silent_p.F554F	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	554	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTGTTCGTGCTGGACG	0.692													T	140263515	C	T	140263515	2	4	16	1	0	0	0	0	0	0	0	1	11523	883	31	1		1	PCDHA13	5	140263515	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	47939	140263515	40651745	418	12740											
PCDHA13	56136	broad.mit.edu	37	chr5	140264043	140264043	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcaccgcccaccgagggCgcgtgcgcgccgggcaagcc	16	18	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:140264043C>T	uc003lif.2	+	1	2190	c.2190C>T	c.(2188-2190)GGC>GGT	p.G730G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.G730G|PCDHA13_uc003lid.2_Silent_p.G730G	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	730	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCGAGGGCGCGTGCGCGC	0.662													T	140264043	C	T	140264043	2	4	16	1	0	0	0	0	0	0	0	1	11523	755	27	1		1	PCDHA13	5	140264043	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	528	140264043	40651217	419	12741											
PCDHAC1	56135	broad.mit.edu	37	chr5	140306840	140306840	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggacaccaatgacaactcAcctctctttcctgccggcga	7	16	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:140306840A>G	uc003lih.2	+	1	539	c.363A>G	c.(361-363)TCA>TCG	p.S121S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Silent_p.S121S	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	121	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACAACTCACCTCTCTTTC	0.607													G	140306840	A	G	140306840	2	3	16	1	0	0	0	0	0	0	0	1	11532	146	6	3		3	PCDHAC1	5	140306840	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	42797	140306840	40608420	420	12742											
PCDHB7	56129	broad.mit.edu	37	chr5	140553146	140553146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaacgcccctgattttgtgCggtcgctctacaaggtgcag	11	12	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:140553146C>T	uc003lit.2	+	1	904	c.730C>T	c.(730-732)CGG>TGG	p.R244W		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	244	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGATTTTGTGCGGTCGCTCTA	0.542													T	140553146	C	T	140553146	3	4	16	1	0	0	0	0	1	0	0	0	11547	759	27	1	732	1	PCDHB7	5	140553146	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	246306	140553146	40362114	421	12743											
PCDHB7	56129	broad.mit.edu	37	chr5	140554034	140554034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagaccgcggctcccccGcgctgagcagcgaggcgctg	14	18	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:140554034G>A	uc003lit.2	+	1	1792	c.1618G>A	c.(1618-1620)GCG>ACG	p.A540T		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	540	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCTCCCCCGCGCTGAGCAG	0.697													A	140554034	G	A	140554034	3	1	16	1	0	0	0	0	1	0	0	0	11547	1087	38	1	1620	1	PCDHB7	5	140554034	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	888	140554034	40361226	422	12744											
PCDHB16	57717	broad.mit.edu	37	chr5	140564007	140564007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgcacaatggcgaggtgCgcaccgccaggctgctgagc	17	13	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:140564007C>T	uc003liv.2	+	1	3028	c.1873C>T	c.(1873-1875)CGC>TGC	p.R625C	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	625	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGAGGTGCGCACCGCCAG	0.697													T	140564007	C	T	140564007	3	4	16	1	0	0	0	0	1	0	0	0	11541	768	27	1	1875	1	PCDHB16	5	140564007	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	9973	140564007	40351253	423	12745											
PCDHB9	56127	broad.mit.edu	37	chr5	140568534	140568534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagcgaggcgctggtgcGcgtactggtgctggacgcca	18	11	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:140568534G>A	uc003liw.1	+	3	1643	c.1643G>A	c.(1642-1644)CGC>CAC	p.R548H		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	548	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCTGGTGCGCGTACTGGTG	0.711													A	140568534	G	A	140568534	3	1	16	1	0	0	0	0	1	0	0	0	11549	1087	38	1	1644	1	PCDHB9	5	140568534	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	4527	140568534	40346726	424	12746											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719254	140719254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggatgcgaacgacaatgCgcctgtttttacacagcccg	10	13	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:140719254C>T	uc003ljk.1	+	1	901	c.716C>T	c.(715-717)GCG>GTG	p.A239V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.A239V	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	239	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAATGCGCCTGTTTTT	0.592													T	140719254	C	T	140719254	3	4	16	1	0	0	0	0	1	0	0	0	11554	768	27	1	718	1	PCDHGA2	5	140719254	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	150720	140719254	40196006	425	12747											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768432	140768432	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggtggaggaatgattgcGcaatgcacagtggaggtaga	17	5	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:140768432G>A	uc003lkc.1	+	1	981	c.981G>A	c.(979-981)GCG>GCA	p.A327A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.A327A	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	327	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|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)			GAATGATTGCGCAATGCACAG	0.428													A	140768432	G	A	140768432	2	1	16	1	0	0	0	0	0	0	0	1	11565	1074	38	1		1	PCDHGB4	5	140768432	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	49178	140768432	40146828	426	12748											
ARHGAP26	23092	broad.mit.edu	37	chr5	142437258	142437258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatccacagccttgttcatcGgctcccagagaaaaatcggc	8	13	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:142437258G>A	uc011dbj.1	+	17	1519	c.1484G>A	c.(1483-1485)CGG>CAG	p.R495Q	ARHGAP26_uc003lmt.2_Missense_Mutation_p.R495Q|ARHGAP26_uc003lmw.2_Missense_Mutation_p.R495Q	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	GTPase regulator associated with the focal	495	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(1)	1		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGTTCATCGGCTCCCAGAG	0.453													A	142437258	G	A	142437258	3	1	16	1	0	0	0	0	1	0	0	0	875	1116	39	1	1550	1	ARHGAP26	5	142437258	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1668826	142437258	38478002	427	12749											
ARHGAP26	23092	broad.mit.edu	37	chr5	142513670	142513670	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgttcagtcaacagagaaaCgtgagtctttgctgcatagg	11	9	3	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:142513670C>T	uc011dbj.1	+	19	1872	c.1837C>T	c.(1837-1839)CAG>TAG	p.Q613*	ARHGAP26_uc003lmt.2_Nonsense_Mutation_p.Q613*|ARHGAP26_uc003lmw.2_Nonsense_Mutation_p.Q613*	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	GTPase regulator associated with the focal	613	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(1)	1		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACAGAGAAACGTGAGTCTTT	0.582													T	142513670	C	T	142513670	4	4	16	1	0	0	0	0	0	1	0	0	875	550	19	1	1911	1	ARHGAP26	5	142513670	Nonsense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	76412	142513670	38401590	428	12750											
SH3RF2	153769	broad.mit.edu	37	chr5	145393517	145393517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtccattctccttcagggCgccatatggtagagatcagc	11	11	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:145393517C>T	uc003lnt.2	+	5	1190	c.952C>T	c.(952-954)CGC>TGC	p.R318C	SH3RF2_uc011dbl.1_Missense_Mutation_p.R318C	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	318							ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCTTCAGGGCGCCATATGGT	0.577													T	145393517	C	T	145393517	3	4	16	1	0	0	0	0	1	0	0	0	14259	768	27	1	966	1	SH3RF2	5	145393517	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2879847	145393517	35521743	429	12751											
LARS	51520	broad.mit.edu	37	chr5	145508683	145508683	+	Splice_Site	DEL	T	T	-													cattcataattgagtcaggcTtttaaaaaaagaaaaacaaa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:145508682_145508682CT>C	uc003lnx.1	-	26	2867	c.2629_splice	c.e26-1	p.P877_splice	LARS_uc003lnw.1_Splice_Site_p.P35_splice|LARS_uc011dbq.1_Splice_Site_p.P831_splice|LARS_uc011dbr.1_Splice_Site_p.P823_splice|LARS_uc011dbs.1_Splice_Site_p.P850_splice	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	Homo sapiens leucyl-tRNA synthetase (LARS), mRNA.	877					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TTGAGTCAGGCTTTTAAAAAA	0.333													-	145508683	T	-	145508683	8	5	16	1	0	1	0	1	0	0	1	0	8634	1623	56	0	931	0	LARS	5	145508683	Splice_Site	DEL	T	TCGA-BR-4292-01A-01D-1126-08	115166	145508683	35406577	430	12752											
DPYSL3	1809	broad.mit.edu	37	chr5	146778698	146778698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatctggatcccagatgaCgaggtcgctgtcagaaccca	11	12	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:146778698C>T	uc003lon.1	-	11	1338	c.1228G>A	c.(1228-1230)GTC>ATC	p.V410I	DPYSL3_uc003loo.2_Missense_Mutation_p.V524I	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	410					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCAGATGACGAGGTCGCTG	0.527													T	146778698	C	T	146778698	3	4	16	1	0	0	0	0	1	0	0	0	4748	536	19	1	500	1	DPYSL3	5	146778698	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1270015	146778698	34136562	431	12753											
ABLIM3	22885	broad.mit.edu	37	chr5	148577904	148577904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgggacttcatcacaggcGaagtcatctcggccctgggc	13	14	4	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:148577904G>A	uc003lpy.2	+	4	525	c.274G>A	c.(274-276)GAA>AAA	p.E92K	ABLIM3_uc003lpz.1_Missense_Mutation_p.E92K|ABLIM3_uc003lqa.1_Silent_p.A73A|ABLIM3_uc003lqb.2_Missense_Mutation_p.E92K|ABLIM3_uc003lqc.1_Missense_Mutation_p.E92K|ABLIM3_uc003lqd.1_Missense_Mutation_p.E92K|ABLIM3_uc003lqf.2_Missense_Mutation_p.E92K|ABLIM3_uc003lqe.1_Missense_Mutation_p.E92K	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	92	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCACAGGCGAAGTCATCTC	0.597													A	148577904	G	A	148577904	3	1	16	1	0	0	0	0	1	0	0	0	96	1059	37	1	284	1	ABLIM3	5	148577904	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1799206	148577904	32337356	432	12754											
PDE6A	5145	broad.mit.edu	37	chr5	149263008	149263008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacataacgatttccttccGtgtctgctccagcatcatgt	6	13	3	0	rs142092713		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:149263008G>A	uc003lrg.3	-	17	2239	c.2119C>T	c.(2119-2121)CGG>TGG	p.R707W		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A	707					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATTTCCTTCCGTGTCTGCTCC	0.473													A	149263008	G	A	149263008	3	1	16	1	0	0	0	0	1	0	0	0	11645	1144	40	1	487	1	PDE6A	5	149263008	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	685104	149263008	31652252	433	12755											
FAT2	2196	broad.mit.edu	37	chr5	150948236	150948236	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagttgcccaccacatacTcctcagttttaaatacattg	5	11	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:150948236T>G	uc003lue.3	-	1	270	c.257A>C	c.(256-258)GAG>GCG	p.E86A	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.E86A	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	86	Extracellular (Potential).|Cadherin 1.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCACATACTCCTCAGTTTT	0.507													G	150948236	T	G	150948236	3	3	16	1	0	0	0	0	1	0	0	0	5690	1551	54	5	12884	5	FAT2	5	150948236	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	1685228	150948236	29967024	434	12756											
ADRA1B	147	broad.mit.edu	37	chr5	159399008	159399008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaaggagttcaagcgcGctttcgtgcgcatcctcggg	13	13	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:159399008G>A	uc003lxt.1	+	2	1245	c.1072G>A	c.(1072-1074)GCT>ACT	p.A358T		NM_000679	NP_000670	P35368	ADA1B_HUMAN	alpha-1B-adrenergic receptor	358	Cytoplasmic (By similarity).				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			lung(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	GTTCAAGCGCGCTTTCGTGCG	0.502													A	159399008	G	A	159399008	3	1	16	1	0	0	0	0	1	0	0	0	335	1087	38	1	1078	1	ADRA1B	5	159399008	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	8450772	159399008	21516252	435	12757											
DOCK2	1794	broad.mit.edu	37	chr5	169129410	169129410	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatcatgtgtgtgtgcgcGgaggatggcaaaacgctgcc	15	9	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:169129410G>A	uc003maf.2	+	14	1442	c.1362G>A	c.(1360-1362)GCG>GCA	p.A454A	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_5'Flank|DOCK2_uc010jjl.1_Silent_p.A5A	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	454	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGTGTGCGCGGAGGATGGCA	0.512											OREG0017017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	169129410	G	A	169129410	2	1	16	1	0	0	0	0	0	0	0	1	4687	1103	39	1		1	DOCK2	5	169129410	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	9730402	169129410	11785850	436	12758											
GABRP	2568	broad.mit.edu	37	chr5	170236617	170236617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacactgatgatcgggtcccGcacttctcttcccaacacca	6	17	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:170236617G>A	uc003mau.2	+	9	1076	c.878G>A	c.(877-879)CGC>CAC	p.R293H	GABRP_uc011dev.1_Intron	NM_014211	NP_055026	O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	293						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATCGGGTCCCGCACTTCTCTT	0.502											OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	170236617	G	A	170236617	3	1	16	1	0	0	0	0	1	0	0	0	6174	1087	38	1	908	1	GABRP	5	170236617	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1107207	170236617	10678643	437	12759											
STK10	6793	broad.mit.edu	37	chr5	171614943	171614943	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcgcccacgatctcccacAcctcgttggggtccaggtcg	11	17	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:171614943A>G	uc003mbo.1	-	1	404	c.104T>C	c.(103-105)GTG>GCG	p.V35A		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	35							ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GATCTCCCACACCTCGTTGGG	0.652													G	171614943	A	G	171614943	3	3	16	1	0	0	0	0	1	0	0	0	15285	159	6	3	2878	3	STK10	5	171614943	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	1378326	171614943	9300317	438	12760											
C5orf41	153222	broad.mit.edu	37	chr5	172513563	172513563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcgaagccacaccttttcGgaacaaactctgatgagcac	7	12	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:172513563G>A	uc003mch.2	+	3	373	c.69G>A	c.(67-69)TCG>TCA	p.S23S	C5orf41_uc003mcg.2_Silent_p.S23S|C5orf41_uc003mcf.2_Silent_p.S23S|C5orf41_uc011dfd.1_Silent_p.S23S	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	luman-recruiting factor	23							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACACCTTTTCGGAACAAACTC	0.413													A	172513563	G	A	172513563	2	1	16	1	0	0	0	0	0	0	0	1	2300	1103	39	1		1	C5orf41	5	172513563	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	898620	172513563	8401697	439	12761											
HMP19	51617	broad.mit.edu	37	chr5	173491266	173491266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaagaacggaatatcagcCggaacagaagaacaaaggga	12	7	1	3	rs142224266		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:173491266C>T	uc003mcx.2	+	3	306	c.161C>T	c.(160-162)CCG>CTG	p.P54L		NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	HMP19 protein	54	Cytoplasmic (Potential).				dopamine receptor signaling pathway	cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAATATCAGCCGGAACAGAAG	0.423													T	173491266	C	T	173491266	3	4	16	1	0	0	0	0	1	0	0	0	7245	652	23	1	167	1	HMP19	5	173491266	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	977703	173491266	7423994	440	12762											
HK3	3101	broad.mit.edu	37	chr5	176310832	176310832	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggacatcatggtccccacCgtgtcattgacaatggcaac	9	13	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:176310832C>T	uc003mfa.2	-	15	2084	c.1992G>A	c.(1990-1992)ACG>ACA	p.T664T	HK3_uc003mez.2_Silent_p.T220T	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	664	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGTCCCCACCGTGTCATTGA	0.582													T	176310832	C	T	176310832	2	4	16	1	0	0	0	0	0	0	0	1	7192	639	23	1		1	HK3	5	176310832	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2819566	176310832	4604428	441	12763											
RUFY1	80230	broad.mit.edu	37	chr5	179021923	179021923	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcacatcctttgaaggaaaAaccaaccaagttatgtccag	6	10	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:179021923A>T	uc003mka.1	+	12	1470	c.1470A>T	c.(1468-1470)AAA>AAT	p.K490N	RUFY1_uc003mkb.1_Missense_Mutation_p.K382N|RUFY1_uc003mkc.1_Missense_Mutation_p.K382N|RUFY1_uc003mkd.1_Missense_Mutation_p.K92N	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	RUN and FYVE domain-containing 1 isoform a	490	Potential.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			ovary(4)|breast(1)	5	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGAAGGAAAAACCAACCAAG	0.473										HNSCC(44;0.11)			T	179021923	A	T	179021923	3	4	16	1	0	0	0	0	1	0	0	0	13738	11	1	5	1516	5	RUFY1	5	179021923	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	2711091	179021923	1893337	442	12764											
CNOT6	57472	broad.mit.edu	37	chr5	179994114	179994114	+	Frame_Shift_Del	DEL	T	T	-													gaaacggaacagtattacagTttttttctggtagagctgaa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr5:179994113_179994113GT>G	uc003mlx.3	+	7	1092	c.743_743GT>G	c.(742-744)agtfs	p.S248fs	CNOT6_uc010jld.3_Frame_Shift_Del_p.S248fs|CNOT6_uc010jle.3_Frame_Shift_Del_p.S243fs	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6 (CNOT6), mRNA.	248					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|exonuclease activity|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		CAGTATTACAGTTTTTTTCTG	0.348													-	179994114	T	-	179994114	7	5	16	1	0	1	0	1	0	0	0	0	3622	1722	60	0	770	0	CNOT6	5	179994114	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	972191	179994114	921146	443	12765											
DUSP22	56940	broad.mit.edu	37	chr6	348155	348155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcgcatacatcatgaccGtcactgactttggctgggag	11	10	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:348155G>A	uc003msx.2	+	6	755	c.316G>A	c.(316-318)GTC>ATC	p.V106I	DUSP22_uc011dhn.1_Missense_Mutation_p.V106I|DUSP22_uc003msy.1_Missense_Mutation_p.V63I	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	106	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.V106I(1)		ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CATCATGACCGTCACTGACTT	0.602													A	348155	G	A	348155	3	1	16	1	0	0	0	0	1	0	0	0	4821	1145	40	1	338	1	DUSP22	6	348155	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08		348155	170766912	444	12766											
EXOC2	55770	broad.mit.edu	37	chr6	637806	637806	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcacaagggggggttgtcGtgatcgagacattgtgcttt	16	6	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:637806G>A	uc003mtd.2	-	2	147	c.13C>T	c.(13-15)CGA>TGA	p.R5*	EXOC2_uc003mte.2_Nonsense_Mutation_p.R5*|EXOC2_uc011dho.1_Intron	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	5					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GGGGGTTGTCGTGATCGAGAC	0.478													A	637806	G	A	637806	4	1	16	1	0	0	0	0	0	1	0	0	5302	1153	40	1	2869	1	EXOC2	6	637806	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	289651	637806	170477261	445	12767											
BPHL	670	broad.mit.edu	37	chr6	3127615	3127615	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagacttttttgaaagggaTgcaaaagatgctgttgattt	11	4	0	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:3127615T>C	uc003mva.2	+	3	400	c.351T>C	c.(349-351)GAT>GAC	p.D117D	BPHL_uc003muz.2_RNA|BPHL_uc011dht.1_RNA|BPHL_uc003muy.2_Silent_p.D100D	NM_004332	NP_004323	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like precursor	117					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity				0	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TTGAAAGGGATGCAAAAGATG	0.493													C	3127615	T	C	3127615	2	2	16	1	0	0	0	0	0	0	0	1	1489	1461	51	3		3	BPHL	6	3127615	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	2489809	3127615	167987452	446	12768											
TUBB2A	7280	broad.mit.edu	37	chr6	3154798	3154798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtcagcttcagggtgcGgaagcagatgtcatacaggg	17	7	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:3154798G>A	uc003mvc.2	-	4	723	c.637C>T	c.(637-639)CGC>TGC	p.R213C	TUBB2A_uc003mvb.2_Missense_Mutation_p.R206C|TUBB2A_uc003mvd.2_Missense_Mutation_p.R176C	NM_001069	NP_001060	Q13885	TBB2A_HUMAN	tubulin, beta 2	213					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			skin(1)	1	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TTCAGGGTGCGGAAGCAGATG	0.612													A	3154798	G	A	3154798	3	1	16	1	0	0	0	0	1	0	0	0	16751	1116	39	1	704	1	TUBB2A	6	3154798	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	27183	3154798	167960269	447	12769											
RREB1	6239	broad.mit.edu	37	chr6	7247181	7247181	+	Frame_Shift_Del	DEL	C	C	-													cccctgaacaggaggagaagCcccccgagaccccggcagag							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:7247181delC	uc003mxc.2	+	11	4723	c.4333delC	c.(4333-4335)CCCfs	p.P1445fs	RREB1_uc003mxb.2_Frame_Shift_Del_p.P1500fs|RREB1_uc010jnx.2_Intron	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1445					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGAGGAGAAGCCCCCCGAGAC	0.746													-	7247181	C	-	7247181	7	5	16	1	0	1	0	1	0	0	0	0	13679	739	26	0	4532	0	RREB1	6	7247181	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	4092383	7247181	163867886	448	12770											
BMP6	654	broad.mit.edu	37	chr6	7862635	7862635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaagtgagtgaggtgcacGtgcgcaccaccaggtcagcc	13	12	2	2	rs144134653		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:7862635G>A	uc003mxu.3	+	4	1286	c.1108G>A	c.(1108-1110)GTG>ATG	p.V370M		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	370					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					TGAGGTGCACGTGCGCACCAC	0.642													A	7862635	G	A	7862635	3	1	16	1	0	0	0	0	1	0	0	0	1464	1145	40	1	1122	1	BMP6	6	7862635	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	615454	7862635	163252432	449	12771											
NOL7	51406	broad.mit.edu	37	chr6	13620992	13620993	+	Frame_Shift_Ins	INS	-	-	A													ctttatattctaggaatccaINSaaaaaaacaaaatgccaaga							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:13620991_13620992C>CA	uc003naz.3	+	7	738_739	c.706_707C>CA	c.(706-708)caafs	p.Q236fs		NM_016167	NP_057251	Q9UMY1	NOL7_HUMAN	Homo sapiens nucleolar protein 7, 27kDa (NOL7), mRNA.	236						mitochondrion|nucleolus		p.Q239fs*7(1)|p.K238fs*16(1)		breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			TCTAGGAATCCAAAAAAAACAA	0.267													A	13620993	-	A	13620992	7	5	16	1	0	1	1	0	0	0	0	0	10526	130	5	0	737	0	NOL7	6	13620992	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	5758357	13620992	157494075	450	12772											
JARID2	3720	broad.mit.edu	37	chr6	15496722	15496722	+	Frame_Shift_Del	DEL	G	G	-													aagtcatgcactaaggaggtGggggggcggcagctgcggga							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:15496722delG	uc003nbj.2	+	7	1510	c.1266delG	c.(1264-1266)GTGfs	p.V422fs	JARID2_uc011diu.1_Frame_Shift_Del_p.V286fs|JARID2_uc011div.1_Frame_Shift_Del_p.V250fs|JARID2_uc011diw.1_Frame_Shift_Del_p.V384fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	422					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CTAAGGAGGTGGGGGGGCGGC	0.667													-	15496722	G	-	15496722	7	5	16	1	0	1	0	1	0	0	0	0	7945	1335	47	0	1292	0	JARID2	6	15496722	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	1875730	15496722	155618345	451	12773											
DTNBP1	84062	broad.mit.edu	37	chr6	15638038	15638038	+	Splice_Site	DEL	A	A	-													gcccatgtatcctcatacctAaaaaaaagcaaaaaataatt					rs140124163		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:15638037_15638037TA>T	uc003nbm.3	-	4	351	c.162_splice	c.e4-1	p.R54_splice	DTNBP1_uc003nbl.3_Splice_Site|DTNBP1_uc010jph.3_Splice_Site_p.R41_splice|DTNBP1_uc003nbp.3_Splice_Site_p.R54_splice	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	54					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TCCTCATACCTAAAAAAAAGC	0.363									Hermansky-Pudlak syndrome				-	15638038	A	-	15638038	8	5	16	1	0	1	0	1	0	0	1	0	4790	377	13	0		0	DTNBP1	6	15638038	Splice_Site	DEL	A	TCGA-BR-4292-01A-01D-1126-08	141316	15638038	155477029	452	12774											
ALDH5A1	7915	broad.mit.edu	37	chr6	24503644	24503644	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaagcagcccataggcgtgGctgcagtcatcaccccggta	11	14	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:24503644G>T	uc003neg.2	+	3	620	c.592G>T	c.(592-594)GCT>TCT	p.A198S	ALDH5A1_uc003nef.2_Missense_Mutation_p.A198S	NM_001080	NP_001071	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5A1 isoform 2 precursor	198					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity				0					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	CATAGGCGTGGCTGCAGTCAT	0.567													T	24503644	G	T	24503644	3	4	16	1	0	0	0	0	1	0	0	0	502	1203	42	5	602	5	ALDH5A1	6	24503644	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	8865606	24503644	146611423	453	12775											
KIAA0319	9856	broad.mit.edu	37	chr6	24596507	24596508	+	Frame_Shift_Ins	INS	-	-	C													tctgatatcctcaggtgagtINSccccccagatccccgagggg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:24596507_24596508insC	uc011djo.1	-	3	631_632	c.394_395insG	c.(394-396)GACfs	p.D132fs	KIAA0319_uc011djp.1_Frame_Shift_Ins_p.D87fs|KIAA0319_uc003neh.1_Frame_Shift_Ins_p.D132fs|KIAA0319_uc011djq.1_Frame_Shift_Ins_p.D123fs|KIAA0319_uc011djr.1_Frame_Shift_Ins_p.D132fs	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	132	Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2						CTCAGGTGAGTCCCCCCAGATC	0.55													C	24596508	-	C	24596507	7	5	16	1	0	1	1	0	0	0	0	0	8168	1667	58	0	2899	0	KIAA0319	6	24596507	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	92863	24596507	146518560	454	12776	36	2									
KIAA0319	9856	broad.mit.edu	37	chr6	24596508	24596509	+	Frame_Shift_Ins	INS	-	-	C													ctgatatcctcaggtgagtcINScccccagatccccgaggggg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:24596507_24596508T>TC	uc011djo.2	-	2	894_895	c.394_395A>GA	c.(394-396)gacfs	p.D132fs	KIAA0319_uc011djp.2_Frame_Shift_Ins_p.D87fs|KIAA0319_uc003neh.1_Frame_Shift_Ins_p.D132fs|KIAA0319_uc011djq.1_Frame_Shift_Ins_p.D123fs|KIAA0319_uc011djr.1_Frame_Shift_Ins_p.D132fs	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	132					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTCAGGTGAGTCCCCCCAGATC	0.55													C	24596509	-	C	24596508	7	5	16	1	0	1	1	0	0	0	0	0	8168	855	30	0	2900	0	KIAA0319	6	24596508	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1	24596508	146518559	455	12777	36	2									
SLC17A3	10786	broad.mit.edu	37	chr6	25862609	25862609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgacattttgtgctatcGttgtgaaattgcagaaatgt	10	4	0	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:25862609G>A	uc003nfi.3	-	3	265	c.155C>T	c.(154-156)ACG>ATG	p.T52M	SLC17A3_uc003nfk.3_Missense_Mutation_p.T52M|SLC17A3_uc011djz.1_Missense_Mutation_p.T52M|SLC17A3_uc011dka.1_Missense_Mutation_p.T52M	NM_006632	NP_006623	O00476	NPT4_HUMAN	solute carrier family 17 (sodium phosphate),	52					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity				0						TTGTGCTATCGTTGTGAAATT	0.408													A	25862609	G	A	25862609	3	1	16	1	0	0	0	0	1	0	0	0	14418	1145	40	1	1381	1	SLC17A3	6	25862609	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1266101	25862609	145252458	456	12778											
ABT1	29777	broad.mit.edu	37	chr6	26598515	26598515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgcaccgtttcacctggtCccacctcagcgagcacctcg	8	18	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:26598515C>T	uc003nii.2	+	3	492	c.461C>T	c.(460-462)TCC>TTC	p.S154F		NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	154					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			ovary(1)	1						TTCACCTGGTCCCACCTCAGC	0.542													T	26598515	C	T	26598515	3	4	16	1	0	0	0	0	1	0	0	0	101	855	30	4	471	4	ABT1	6	26598515	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	735906	26598515	144516552	457	12779											
ZNF184	7738	broad.mit.edu	37	chr6	27419587	27419587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcattacacttgtaaggtCgttctccagtatggatcttc	7	10	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:27419587C>T	uc003njj.2	-	5	2562	c.1751G>A	c.(1750-1752)CGA>CAA	p.R584Q	ZNF184_uc010jqv.2_Missense_Mutation_p.R584Q|ZNF184_uc003nji.2_Missense_Mutation_p.R584Q	NM_007149	NP_009080	Q99676	ZN184_HUMAN	zinc finger protein 184	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTTGTAAGGTCGTTCTCCAGT	0.423													T	27419587	C	T	27419587	3	4	16	1	0	0	0	0	1	0	0	0	17748	884	31	1	508	1	ZNF184	6	27419587	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	821072	27419587	143695480	458	12780											
HIST1H3I	8354	broad.mit.edu	37	chr6	27839989	27839989	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcggtggggcttcttgacGccaccggtggccggagcgct	17	12	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:27839989G>A	uc003njy.2	-	1	111	c.105C>T	c.(103-105)GGC>GGT	p.G35G		NM_003533	NP_003524	P68431	H31_HUMAN	histone cluster 1, H3i	35					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						GCTTCTTGACGCCACCGGTGG	0.667													A	27839989	G	A	27839989	2	1	16	1	0	0	0	0	0	0	0	1	7163	1074	38	1		1	HIST1H3I	6	27839989	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	420402	27839989	143275078	459	12781											
PGBD1	84547	broad.mit.edu	37	chr6	28251732	28251732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatttgccgcctgcgctttCggcacttctgctaccaggag	11	13	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:28251732C>T	uc003nky.2	+	2	512	c.142C>T	c.(142-144)CGG>TGG	p.R48W	PGBD1_uc003nkz.2_Missense_Mutation_p.R48W	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	48	SCAN box.				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						CCTGCGCTTTCGGCACTTCTG	0.582													T	28251732	C	T	28251732	3	4	16	1	0	0	0	0	1	0	0	0	11780	875	31	1	144	1	PGBD1	6	28251732	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	411743	28251732	142863335	460	12782											
OR12D3	81797	broad.mit.edu	37	chr6	29342751	29342752	+	Frame_Shift_Ins	INS	-	-	A													aatggcctctgtgcttcccaINSaaaagtggaagaagtgtagc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:29342750_29342751C>CA	uc003nme.3	-	0	318_319	c.314_315G>TG	c.(313-315)ttgfs	p.L105fs		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						CTGTGCTTCCCAAAAAGTGGAA	0.495													A	29342752	-	A	29342751	7	5	16	1	0	1	1	0	0	0	0	0	10932	131	5	0	640	0	OR12D3	6	29342751	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1091019	29342751	141772316	461	12783											
TRIM26	7726	broad.mit.edu	37	chr6	30154048	30154048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcttcgtccgtttcccagtCgtcatatccatccccatagc	5	16	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:30154048C>T	uc003npr.2	-	9	1434	c.1225G>A	c.(1225-1227)GAC>AAC	p.D409N	TRIM26_uc003nps.2_Missense_Mutation_p.D409N|TRIM26_uc010jry.2_Missense_Mutation_p.D139N|TRIM26_uc003npt.2_Missense_Mutation_p.D409N	NM_003449	NP_003440	Q12899	TRI26_HUMAN	tripartite motif-containing 26	409	B30.2/SPRY.						DNA binding|zinc ion binding			ovary(2)|lung(1)	3						GTTTCCCAGTCGTCATATCCA	0.313													T	30154048	C	T	30154048	3	4	16	1	0	0	0	0	1	0	0	0	16497	884	31	1	398	1	TRIM26	6	30154048	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	811297	30154048	140961019	462	12784											
ABCF1	23	broad.mit.edu	37	chr6	30554313	30554313	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttggattttggcatcgacAtggattcaaggagtgagttg	13	5	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:30554313A>G	uc003nql.2	+	19	2043	c.1948A>G	c.(1948-1950)ATG>GTG	p.M650V	ABCF1_uc003nqm.2_Missense_Mutation_p.M612V|ABCF1_uc010jsb.2_Intron	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F, member 1	650	ABC transporter 2.				inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			ovary(2)	2						TGGCATCGACATGGATTCAAG	0.483													G	30554313	A	G	30554313	3	3	16	1	0	0	0	0	1	0	0	0	65	217	8	3	2022	3	ABCF1	6	30554313	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	400265	30554313	140560754	463	12785											
MDC1	9656	broad.mit.edu	37	chr6	30675170	30675172	+	In_Frame_Del	DEL	CTT	CTT	-													gtagctctcaccctggaaacCttctcagcagctctgatcct							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:30675170_30675172delCTT	uc003nrg.3	-	9	3513_3515	c.3073_3075delAAG	c.(3073-3075)AAGdel	p.K1025del	MDC1_uc003nrf.3_In_Frame_Del_p.K415del|MDC1_uc011dmp.1_In_Frame_Del_p.K632del	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1025				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						CCCTGGAAACCTTCTCAGCAGCT	0.458								Other_conserved_DNA_damage_response_genes					-	30675172	CTT	-	30675170	7	5	16	1	0	1	0	1	0	0	0	0	9403	680	24	0	3222	0	MDC1	6	30675170	In_Frame_Del	DEL	CTT	TCGA-BR-4292-01A-01D-1126-08	120857	30675170	140439897	464	12786											
BAT2	7916	broad.mit.edu	37	chr6	31590652	31590652	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttgatacgtataagggcaAgtccttagagatccagaaac	10	7	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:31590652A>C	uc003nvb.3	+	2	335	c.86A>C	c.(85-87)AAG>ACG	p.K29T	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.K29T|SNORA38_uc003nvd.2_5'Flank|BAT2_uc003nve.2_5'Flank	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	29						cytoplasm|nucleus	protein binding				0						TATAAGGGCAAGTCCTTAGAG	0.502													C	31590652	A	C	31590652	3	2	16	1	0	0	0	0	1	0	0	0	1319	72	3	5	88	5	BAT2	6	31590652	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	915482	31590652	139524415	465	12787											
BAT2	7916	broad.mit.edu	37	chr6	31597497	31597497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacccaggtgctctgggccGgcccccacccatgcccccaa	10	20	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:31597497G>A	uc003nvb.3	+	14	2378	c.2129G>A	c.(2128-2130)CGG>CAG	p.R710Q	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.R710Q	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	710	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						GCTCTGGGCCGGCCCCCACCC	0.662													A	31597497	G	A	31597497	3	1	16	1	0	0	0	0	1	0	0	0	1319	1116	39	1	2179	1	BAT2	6	31597497	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	6845	31597497	139517570	466	12788											
C6orf26	401251	broad.mit.edu	37	chr6	31731318	31731318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgacagcagctgcatctaGgggcccttggtgaggtatgg	16	9	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:31731318G>A	uc003nxa.3	+	2	300	c.241G>A	c.(241-243)GGG>AGG	p.G81R	MSH5_uc003nwz.3_RNA	NM_001039651	NP_001034740	Q5SSQ6	G7D_HUMAN	hypothetical protein LOC401251	81											0						GCTGCATCTAGGGGCCCTTGG	0.607													A	31731318	G	A	31731318	3	1	16	1	0	0	0	0	1	0	0	0	2361	1000	35	4	247	4	C6orf26	6	31731318	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	133821	31731318	139383749	467	12789											
SLC44A4	80736	broad.mit.edu	37	chr6	31833884	31833884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcacatcagccctgggcacGaggagttcacaaggtgggcc	14	13	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:31833884G>A	uc010jti.2	-	14	1319	c.1253C>T	c.(1252-1254)TCG>TTG	p.S418L		NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	418	Extracellular (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)	CCCTGGGCACGAGGAGTTCAC	0.582													A	31833884	G	A	31833884	3	1	16	1	0	0	0	0	1	0	0	0	14638	1059	37	1	911	1	SLC44A4	6	31833884	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	102566	31833884	139281183	468	12790											
EGFL8	80864	broad.mit.edu	37	chr6	32135153	32135153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcggaaaaagatgagcgcGctctgaagcaggagattcac	14	8	2	4	rs149576421		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:32135153G>A	uc003oab.1	+	7	686	c.628G>A	c.(628-630)GCT>ACT	p.A210T	PPT2_uc003nzy.1_RNA|EGFL8_uc003oac.1_Missense_Mutation_p.A210T	NM_030652	NP_085155	Q99944	EGFL8_HUMAN	NG3 protein precursor	210	Potential.					extracellular region|integral to membrane	calcium ion binding				0						AGATGAGCGCGCTCTGAAGCA	0.652													A	32135153	G	A	32135153	3	1	16	1	0	0	0	0	1	0	0	0	4965	1087	38	1	650	1	EGFL8	6	32135153	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	301269	32135153	138979914	469	12791											
HLA-DRA	3122	broad.mit.edu	37	chr6	32411064	32411064	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccccaccagtggtcaatgTcacgtggcttcgaaatggaa	10	12	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:32411064T>C	uc003obh.2	+	3	512	c.431T>C	c.(430-432)GTC>GCC	p.V144A	HLA-DRA_uc003obi.2_Missense_Mutation_p.V119A	NM_019111	NP_061984	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR	144	Ig-like C1-type.|Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			ovary(1)|skin(1)	2						GTGGTCAATGTCACGTGGCTT	0.527									T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of				C	32411064	T	C	32411064	3	2	16	1	0	0	0	0	1	0	0	0	7207	1667	58	3	441	3	HLA-DRA	6	32411064	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	275911	32411064	138704003	470	12792											
TAP2	6891	broad.mit.edu	37	chr6	32782287	32782287	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccacttgatcttgatatcCcctggatagaagcctgtcac	7	12	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:32782287C>T	uc011dqf.1	-	14	2396	c.2274G>A	c.(2272-2274)GGG>GGA	p.G758G	HLA-DOB_uc003oca.2_Silent_p.G151G|HLA-DOB_uc011dqg.1_Silent_p.G151G	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	Error:Variant_position_missing_in_Q03519_after_alignment					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						TCTTGATATCCCCTGGATAGA	0.547													T	32782287	C	T	32782287	2	4	16	1	0	0	0	0	0	0	0	1	15548	610	22	4		4	TAP2	6	32782287	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	371223	32782287	138332780	471	12793											
COL11A2	1302	broad.mit.edu	37	chr6	33144778	33144778	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccactcaccgggggtccGtctgagccaggcatgccggg	15	15	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:33144778G>A	uc003ocx.1	-	25	2289	c.2061C>T	c.(2059-2061)GAC>GAT	p.D687D	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.D601D|COL11A2_uc003ocz.1_Silent_p.D580D	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	687	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						CCGGGGGTCCGTCTGAGCCAG	0.607													A	33144778	G	A	33144778	2	1	16	1	0	0	0	0	0	0	0	1	3668	1136	40	1		1	COL11A2	6	33144778	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	362491	33144778	137970289	472	12794											
B3GALT4	8705	broad.mit.edu	37	chr6	33245751	33245751	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgtcaacgtccctgaactGgtatcagagctggtcttgcg	11	10	3	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:33245751G>A	uc003odr.2	+	1	835	c.555G>A	c.(553-555)CTG>CTA	p.L185L		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	185	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2						TCCCTGAACTGGTATCAGAGC	0.582													A	33245751	G	A	33245751	2	1	16	1	0	0	0	0	0	0	0	1	1249	1335	47	4		4	B3GALT4	6	33245751	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	100973	33245751	137869316	473	12795											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34825149	34825149	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaaagccatctacactccTttcctgcagtcggaaacttc	5	13	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:34825149T>C	uc003oju.3	+	12	1709	c.1475T>C	c.(1474-1476)CTT>CCT	p.L492P	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_5'Flank	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	492										ovary(3)	3						TCTACACTCCTTTCCTGCAGT	0.443													C	34825149	T	C	34825149	3	2	16	1	0	0	0	0	1	0	0	0	16965	1609	56	3	1521	3	UHRF1BP1	6	34825149	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	1579398	34825149	136289918	474	12796											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34839369	34839369	+	Frame_Shift_Del	DEL	C	C	-													tctttcctgcaggatgatatCccccccatctatccaacatc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:34839368_34839368TC>T	uc003oju.4	+	18	4223	c.3989_3989TC>T	c.(3988-3990)atcfs	p.I1330fs	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	1330										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CAGGATGATATCCCCCCCATC	0.512													-	34839369	C	-	34839369	7	5	16	1	0	1	0	1	0	0	0	0	16965	845	30	0	4064	0	UHRF1BP1	6	34839369	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	14220	34839369	136275698	475	12797											
MDGA1	266727	broad.mit.edu	37	chr6	37619917	37619917	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaggctgctggtgactgcGggcagctcaggatcattgcg	15	10	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:37619917G>A	uc003onu.1	-	7	2361	c.1182C>T	c.(1180-1182)CCC>CCT	p.P394P	MDGA1_uc003onw.3_RNA	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	394	Ig-like 4.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						TGGTGACTGCGGGCAGCTCAG	0.602													A	37619917	G	A	37619917	2	1	16	1	0	0	0	0	0	0	0	1	9406	1103	39	1		1	MDGA1	6	37619917	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2780548	37619917	133495150	476	12798											
ZFAND3	60685	broad.mit.edu	37	chr6	38120107	38120107	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagccatcatgaaaatggTgaagctggaccggaaagtgg	15	6	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:38120107T>C	uc003onx.2	+	6	1041	c.626T>C	c.(625-627)GTG>GCG	p.V209A		NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	209							DNA binding|zinc ion binding			ovary(1)	1						ATGAAAATGGTGAAGCTGGAC	0.597													C	38120107	T	C	38120107	3	2	16	1	0	0	0	0	1	0	0	0	17626	1696	59	3	648	3	ZFAND3	6	38120107	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	500190	38120107	132994960	477	12799											
DNAH8	1769	broad.mit.edu	37	chr6	38840746	38840746	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggattgagaacttaaattcCgttttggatgacaataaaac	8	5	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:38840746C>T	uc003ooe.1	+	49	7251	c.6651C>T	c.(6649-6651)TCC>TCT	p.S2217S		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						ACTTAAATTCCGTTTTGGATG	0.378													T	38840746	C	T	38840746	2	4	16	1	0	0	0	0	0	0	0	1	4607	639	23	1		1	DNAH8	6	38840746	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	720639	38840746	132274321	478	12800											
UBR2	23304	broad.mit.edu	37	chr6	42633221	42633221	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaaataaaagcattacAgtttcttaggaaagaagaaa	7	5	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:42633221A>G	uc011dur.1	+	33	3773	c.3773A>G	c.(3772-3774)CAG>CGG	p.Q1258R	UBR2_uc011dus.1_Missense_Mutation_p.Q903R|UBR2_uc003osh.2_RNA	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	1258					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AAAGCATTACAGTTTCTTAGG	0.333													G	42633221	A	G	42633221	3	3	16	1	0	0	0	0	1	0	0	0	16899	188	7	3	4049	3	UBR2	6	42633221	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	3792475	42633221	128481846	479	12801											
KIAA0240	23506	broad.mit.edu	37	chr6	42796237	42796237	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtttatttttttagaatgctGatcctaagtcatccctcaaa	5	8	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:42796237G>A	uc003osn.1	+	6	317	c.166G>A	c.(166-168)GAT>AAT	p.D56N	KIAA0240_uc003osm.1_Missense_Mutation_p.D56N|KIAA0240_uc011duw.1_Missense_Mutation_p.D56N|KIAA0240_uc003oso.1_Missense_Mutation_p.D56N|KIAA0240_uc003osp.1_Missense_Mutation_p.D56N	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	56										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			TTAGAATGCTGATCCTAAGTC	0.343													A	42796237	G	A	42796237	3	1	16	1	0	0	0	0	1	0	0	0	8164	1290	45	4	180	4	KIAA0240	6	42796237	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	163016	42796237	128318830	480	12802											
PTCRA	171558	broad.mit.edu	37	chr6	42890866	42890866	+	Frame_Shift_Del	DEL	C	C	-													gcctggtccttgatgttgcaCcccctggccttgacagcccc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:42890865_42890865AC>A	uc021yzp.1	+	1	240	c.159_159AC>A	c.(157-159)gcafs	p.A53fs	PTCRA_uc011duz.1_Frame_Shift_Del_p.H64fs|PTCRA_uc010jxx.1_Intron|PTCRA_uc010jxy.3_Intron|PTCRA_uc003osx.3_Frame_Shift_Del_p.A53fs|PTCRA_uc010jxz.3_Intron	NM_001243168	NP_001230097	Q6ISU1	PTCRA_HUMAN	Homo sapiens pre T-cell antigen receptor alpha (PTCRA), transcript variant 1, mRNA.	53						integral to membrane	receptor activity	p.V52D(1)		large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TTGATGTTGCACCCCCTGGCC	0.607													-	42890866	C	-	42890866	7	5	16	1	0	1	0	1	0	0	0	0	12735	507	18	0	166	0	PTCRA	6	42890866	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	94629	42890866	128224201	481	12803											
CUL9	23113	broad.mit.edu	37	chr6	43152490	43152490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcttcacaccatccacGtgctcagtgcctacgccagc	8	17	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:43152490G>A	uc003ouk.2	+	2	517	c.442G>A	c.(442-444)GTG>ATG	p.V148M	CUL9_uc003ouj.1_Missense_Mutation_p.V148M|CUL9_uc003oul.2_Missense_Mutation_p.V148M|CUL9_uc010jyk.2_Translation_Start_Site|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	148					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						CACCATCCACGTGCTCAGTGC	0.622													A	43152490	G	A	43152490	3	1	16	1	0	0	0	0	1	0	0	0	4061	1145	40	1	444	1	CUL9	6	43152490	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	261624	43152490	127962577	482	12804											
TDRD6	221400	broad.mit.edu	37	chr6	46656522	46656522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacagcggccactgctagCgtgggctccggggtcccggt	15	15	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:46656522C>T	uc003oyj.2	+	1	657	c.657C>T	c.(655-657)AGC>AGT	p.S219S	TDRD6_uc010jze.2_Silent_p.S213S	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	219					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			CCACTGCTAGCGTGGGCTCCG	0.647													T	46656522	C	T	46656522	2	4	16	1	0	0	0	0	0	0	0	1	15731	767	27	1		1	TDRD6	6	46656522	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3504032	46656522	124458545	483	12805											
PLA2G7	7941	broad.mit.edu	37	chr6	46677134	46677134	+	Frame_Shift_Del	DEL	T	T	-													agaatgtccaattactgctaTtttttccctatcaatagagt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:46677133_46677133AT>A	uc010jzf.3	-	8	1069	c.800_800AT>T	c.(799-801)atafs	p.I267fs	PLA2G7_uc021zae.1_Frame_Shift_Del_p.I267fs	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA.	267					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AATTACTGCTATTTTTTCCCT	0.308													-	46677134	T	-	46677134	7	5	16	1	0	1	0	1	0	0	0	0	12009	1493	52	0	542	0	PLA2G7	6	46677134	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	20612	46677134	124437933	484	12806											
C6orf138	442213	broad.mit.edu	37	chr6	47846191	47846191	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taaaataacaaaacagtgcaGaagtgtgcaacccccagtga	8	9	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:47846191G>T	uc011dwm.1	-	3	2423	c.2338C>A	c.(2338-2340)CTG>ATG	p.L780M	C6orf138_uc011dwn.1_Missense_Mutation_p.L544M	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	797	Helical; (Potential).					integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1						AAACAGTGCAGAAGTGTGCAA	0.448													T	47846191	G	T	47846191	3	4	16	1	0	0	0	0	1	0	0	0	2332	933	33	5	155	5	C6orf138	6	47846191	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1169057	47846191	123268876	485	12807											
KIAA1586	57691	broad.mit.edu	37	chr6	56919147	56919147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattcagcacatgaacctacGccttttatctgacagaaacc	5	12	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:56919147G>A	uc003pdj.2	+	4	2020	c.1850G>A	c.(1849-1851)CGC>CAC	p.R617H	KIAA1586_uc011dxm.1_Missense_Mutation_p.R590H	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	hypothetical protein LOC57691	617							nucleic acid binding				0	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGAACCTACGCCTTTTATCT	0.308													A	56919147	G	A	56919147	3	1	16	1	0	0	0	0	1	0	0	0	8245	1087	38	1	1864	1	KIAA1586	6	56919147	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	9072956	56919147	114195920	486	12808											
EYS	346007	broad.mit.edu	37	chr6	66045023	66045023	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcttcactcaaacaactgCatccatttgcacaaatctat	2	13	4	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:66045023C>A	uc011dxu.1	-	11	2154	c.1616G>T	c.(1615-1617)TGC>TTC	p.C539F	EYS_uc003peq.2_Missense_Mutation_p.C539F|EYS_uc003per.1_Missense_Mutation_p.C539F	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	539					response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						CAAACAACTGCATCCATTTGC	0.308													A	66045023	C	A	66045023	3	1	16	1	0	0	0	0	1	0	0	0	5332	710	25	5	7912	5	EYS	6	66045023	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	9125876	66045023	105070044	487	12809											
BAI3	577	broad.mit.edu	37	chr6	69640508	69640508	+	Frame_Shift_Del	DEL	A	A	-													gcgacctcgatctgttcatgAaaaaagggtccctcaggaac							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:69640507_69640507GA>G	uc010kak.3	+	2	1090	c.814_814GA>G	c.(814-816)gaafs	p.E272fs	BAI3_uc003pev.4_Frame_Shift_Del_p.E272fs	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	272					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATCTGTTCATGAAAAAAGGGT	0.338													-	69640508	A	-	69640508	7	5	16	1	0	1	0	1	0	0	0	0	1300	246	9	0	821	0	BAI3	6	69640508	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	3595485	69640508	101474559	488	12810											
COL9A1	1297	broad.mit.edu	37	chr6	71011710	71011710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actatggcccttactggggcGacgcttgacagctgcagatg	13	11	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:71011710G>A	uc003pfg.3	-	2	241	c.82C>T	c.(82-84)CGC>TGC	p.R28C		NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	28	Nonhelical region (NC4).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						TTACTGGGGCGACGCTTGACA	0.463													A	71011710	G	A	71011710	3	1	16	1	0	0	0	0	1	0	0	0	3707	1058	37	1	2907	1	COL9A1	6	71011710	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1371202	71011710	100103357	489	12811											
RIMS1	22999	broad.mit.edu	37	chr6	72678706	72678706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgttgtcagggacatggCgaagcctgctgcctgcaaaa	14	9	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:72678706C>T	uc003pga.2	+	2	262	c.185C>T	c.(184-186)GCG>GTG	p.A62V		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	62	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGGGACATGGCGAAGCCTGCT	0.453													T	72678706	C	T	72678706	3	4	16	1	0	0	0	0	1	0	0	0	13367	768	27	1	191	1	RIMS1	6	72678706	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1666996	72678706	98436361	490	12812											
KCNQ5	56479	broad.mit.edu	37	chr6	73902416	73902416	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaaggttgaaaaacaggTacaactcaactacgctgggt	11	8	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:73902416T>C	uc003pgk.2	+	13	2183	c.1836_splice	c.e13+2	p.Q612_splice	KCNQ5_uc011dyh.1_Splice_Site_p.Q631_splice|KCNQ5_uc011dyi.1_Splice_Site_p.Q622_splice|KCNQ5_uc010kat.2_Splice_Site_p.Q603_splice|KCNQ5_uc011dyj.1_Splice_Site_p.Q502_splice|KCNQ5_uc011dyk.1_Splice_Site_p.Q362_splice	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like						protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GAAAAACAGGTACAACTCAAC	0.353													C	73902416	T	C	73902416	5	2	16	1	0	0	0	0	0	0	1	0	8086	1652	57	3	1949	3	KCNQ5	6	73902416	Splice_Site	SNP	T	TCGA-BR-4292-01A-01D-1126-08	1223710	73902416	97212651	491	12813											
COL12A1	1303	broad.mit.edu	37	chr6	75797321	75797321	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttgcccgttgtatgggatGctggcacactgagaagaatc	12	10	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:75797321G>T	uc003phs.2	-	65	9319	c.9153C>A	c.(9151-9153)AGC>AGA	p.S3051R	COL12A1_uc003pht.2_Missense_Mutation_p.S1887R	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	3051	Nonhelical region (NC1).				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TGTATGGGATGCTGGCACACT	0.537													T	75797321	G	T	75797321	3	4	16	1	0	0	0	0	1	0	0	0	3669	1310	46	5	46	5	COL12A1	6	75797321	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1894905	75797321	95317746	492	12814											
COL12A1	1303	broad.mit.edu	37	chr6	75814988	75814988	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaagaatttggaaaagcAgggcattttccctcatctct	9	9	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:75814988A>G	uc003phs.2	-	54	8365	c.8199T>C	c.(8197-8199)CCT>CCC	p.P2733P	COL12A1_uc003pht.2_Silent_p.P1569P	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2733	Nonhelical region (NC3).				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TTGGAAAAGCAGGGCATTTTC	0.428													G	75814988	A	G	75814988	2	3	16	1	0	0	0	0	0	0	0	1	3669	175	7	3		3	COL12A1	6	75814988	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	17667	75814988	95300079	493	12815											
SNX14	57231	broad.mit.edu	37	chr6	86223561	86223561	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaagtctgttttgctccTttttgcttatcttggagaga	8	7	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:86223561T>C	uc003pkr.2	-	26	2803	c.2610A>G	c.(2608-2610)AAA>AAG	p.K870K	SNX14_uc003pkp.2_Silent_p.K733K|SNX14_uc003pkq.2_Silent_p.K476K|SNX14_uc011dzg.1_Silent_p.K818K|SNX14_uc003pks.2_Silent_p.K817K|SNX14_uc003pkt.2_Silent_p.K861K	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	870					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		GTTTTGCTCCTTTTTGCTTAT	0.308													C	86223561	T	C	86223561	2	2	16	1	0	0	0	0	0	0	0	1	14885	1606	56	3		3	SNX14	6	86223561	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	10408573	86223561	84891506	494	12816											
ANKRD6	22881	broad.mit.edu	37	chr6	90340559	90340559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacccagtatttttttgagGctgtttctacccagatggaa	8	8	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:90340559G>A	uc003pni.3	+	16	2361	c.2020G>A	c.(2020-2022)GCT>ACT	p.A674T	ANKRD6_uc003pne.3_Missense_Mutation_p.A669T|ANKRD6_uc003pnf.3_Missense_Mutation_p.A639T|ANKRD6_uc011dzy.1_Missense_Mutation_p.A674T|ANKRD6_uc010kcd.2_Missense_Mutation_p.A610T|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_Missense_Mutation_p.A270T|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.3_Missense_Mutation_p.A270T	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	674							protein binding			ovary(2)|pancreas(1)	3		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		TTTTTTTGAGGCTGTTTCTAC	0.522													A	90340559	G	A	90340559	3	1	16	1	0	0	0	0	1	0	0	0	685	1203	42	2	2063	2	ANKRD6	6	90340559	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	4116998	90340559	80774508	495	12817											
MDN1	23195	broad.mit.edu	37	chr6	90402442	90402442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagccagcaaggctgtgGccagggtccccagcctgtct	14	13	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:90402442G>A	uc003pnn.1	-	63	10423	c.10307C>T	c.(10306-10308)GCC>GTC	p.A3436V		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3436					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAAGGCTGTGGCCAGGGTCCC	0.567													A	90402442	G	A	90402442	3	1	16	1	0	0	0	0	1	0	0	0	9415	1203	42	2	6643	2	MDN1	6	90402442	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	61883	90402442	80712625	496	12818											
BACH2	60468	broad.mit.edu	37	chr6	90642584	90642584	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctttcagttgattcctctctGacaacagtttctctttctca	4	12	4	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:90642584G>A	uc011eab.1	-	9	2878	c.2069C>T	c.(2068-2070)TCA>TTA	p.S690L	BACH2_uc003pnw.2_Missense_Mutation_p.S690L	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	690	Leucine-zipper.					nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ATTCCTCTCTGACAACAGTTT	0.493													A	90642584	G	A	90642584	3	1	16	1	0	0	0	0	1	0	0	0	1284	1294	45	4	460	4	BACH2	6	90642584	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	240142	90642584	80472483	497	12819											
EPHA7	2045	broad.mit.edu	37	chr6	93967182	93967182	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcactttggtacttacccTgagaaatgcatctagggctc	9	10	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:93967182T>C	uc003poe.2	-	12	2411	c.2170A>G	c.(2170-2172)AGG>GGG	p.R724G	EPHA7_uc003pof.2_Missense_Mutation_p.R719G|EPHA7_uc011eac.1_Missense_Mutation_p.R720G	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	724	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTACTTACCCTGAGAAATGCA	0.328													C	93967182	T	C	93967182	3	2	16	1	0	0	0	0	1	0	0	0	5172	1579	55	3	850	3	EPHA7	6	93967182	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	3324598	93967182	77147885	498	12820											
KLHL32	114792	broad.mit.edu	37	chr6	97587132	97587132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttcaaactcttcaagtgCctcatcacaggattggcacc	6	14	5	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:97587132C>T	uc010kcm.1	+	11	2309	c.1837C>T	c.(1837-1839)CCT>TCT	p.P613S	KLHL32_uc011ead.1_Missense_Mutation_p.P577S|KLHL32_uc003poz.2_Missense_Mutation_p.P169S|KLHL32_uc011eae.1_Missense_Mutation_p.P544S|KLHL32_uc003ppa.2_RNA	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	kelch-like 32	613										ovary(3)|skin(1)	4		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TCTTCAAGTGCCTCATCACAG	0.458													T	97587132	C	T	97587132	3	4	16	1	0	0	0	0	1	0	0	0	8386	739	26	2	1875	2	KLHL32	6	97587132	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3619950	97587132	73527935	499	12821											
C6orf167	253714	broad.mit.edu	37	chr6	97711260	97711260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagaagatgaataagtagaAcccataattctttaatgcat	6	6	1	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:97711260A>G	uc003ppb.2	-	9	1159	c.893T>C	c.(892-894)GTT>GCT	p.V298A	C6orf167_uc011eaf.1_Missense_Mutation_p.V298A|C6orf167_uc010kcn.1_Missense_Mutation_p.V72A|C6orf167_uc010kco.1_Intron|C6orf167_uc003ppc.2_Missense_Mutation_p.V298A	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	298					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		AATAAGTAGAACCCATAATTC	0.313													G	97711260	A	G	97711260	3	3	16	1	0	0	0	0	1	0	0	0	2342	43	2	3	2906	3	C6orf167	6	97711260	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	124128	97711260	73403807	500	12822											
USP45	85015	broad.mit.edu	37	chr6	99893879	99893879	+	Frame_Shift_Del	DEL	A	A	-													acctcaaatgcttcccctctAaaaaacataaattatttgaa					rs12203426	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:99893878_99893878TA>T	uc003ppx.2	-	13	2303	c.1770_1770TA>A	c.(1768-1770)ttafs	p.L590fs	USP45_uc003ppv.2_Intron|USP45_uc003ppw.2_Frame_Shift_Del_p.L270fs	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	Homo sapiens ubiquitin specific peptidase 45 (USP45), mRNA.	590					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		GCTTCCCCTCTAAAAAACATA	0.353													-	99893879	A	-	99893879	7	5	16	1	0	1	0	1	0	0	0	0	17073	372	13	0	695	0	USP45	6	99893879	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	2182619	99893879	71221188	501	12823											
ARMC2	84071	broad.mit.edu	37	chr6	109294600	109294600	+	Frame_Shift_Del	DEL	A	A	-													ggcagttttgatccagacctAaaaaactatcacaaactcca							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:109294600delA	uc003pss.3	+	18	2661	c.2487delA	c.(2485-2487)CTAfs	p.L829fs	ARMC2_uc011eao.1_Frame_Shift_Del_p.L664fs	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	829							binding				0		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		ATCCAGACCTAAAAAACTATC	0.373													-	109294600	A	-	109294600	7	5	16	1	0	1	0	1	0	0	0	0	951	349	13	0	2553	0	ARMC2	6	109294600	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	9400721	109294600	61820467	502	12824											
C6orf186	728464	broad.mit.edu	37	chr6	110620298	110620298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actaggatcaaaacgatgcaCttcacatccgttgttggcca	8	11	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:110620298C>A	uc010kdu.1	-	4	613	c.613G>T	c.(613-615)GTG>TTG	p.V205L	C6orf186_uc003pub.2_Missense_Mutation_p.V8L	NM_001123364	NP_001116836	Q5JXM2	CF186_HUMAN	chromosome 6 open reading frame 186 precursor	205						extracellular region					0						AAACGATGCACTTCACATCCG	0.458													A	110620298	C	A	110620298	3	1	16	1	0	0	0	0	1	0	0	0	2347	565	20	5	495	5	C6orf186	6	110620298	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1325698	110620298	60494769	503	12825											
ROS1	6098	broad.mit.edu	37	chr6	117674208	117674208	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atatgcctactccttagggcCttcacctgggaaacgatggc	10	12	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:117674208C>A	uc003pxp.1	-	26	4465	c.4266G>T	c.(4264-4266)AAG>AAT	p.K1422N	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1422	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCCTTAGGGCCTTCACCTGGG	0.443			T	GOPC|ROS1	glioblastoma|NSCLC								A	117674208	C	A	117674208	3	1	16	1	0	0	0	0	1	0	0	0	13531	680	24	5	2849	5	ROS1	6	117674208	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	7053910	117674208	53440859	504	12826											
GJA1	2697	broad.mit.edu	37	chr6	121768495	121768495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagtctatctttgaggtgGccttcttgctgatccagtgg	11	9	4	2	rs111717577		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:121768495G>A	uc003pyr.2	+	2	752	c.502G>A	c.(502-504)GCC>ACC	p.A168T	GJA1_uc011ebo.1_Missense_Mutation_p.A69T|GJA1_uc011ebp.1_5'UTR	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	168	Helical; (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CTTTGAGGTGGCCTTCTTGCT	0.473													A	121768495	G	A	121768495	3	1	16	1	0	0	0	0	1	0	0	0	6400	1203	42	2	504	2	GJA1	6	121768495	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	4094287	121768495	49346572	505	12827											
PTPRK	5796	broad.mit.edu	37	chr6	128318068	128318068	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctataatgtttccatatcgGttttttgctctattttgatc	6	7	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:128318068G>T	uc003qbk.2	-	17	3109	c.2742C>A	c.(2740-2742)AAC>AAA	p.N914K	PTPRK_uc003qbj.2_Missense_Mutation_p.N915K|PTPRK_uc010kfc.2_Missense_Mutation_p.N915K|PTPRK_uc011ebu.1_Missense_Mutation_p.N931K	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	914	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTCCATATCGGTTTTTTGCTC	0.318													T	128318068	G	T	128318068	3	4	16	1	0	0	0	0	1	0	0	0	12805	1252	44	5	1655	5	PTPRK	6	128318068	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	6549573	128318068	42796999	506	12828											
ARHGAP18	93663	broad.mit.edu	37	chr6	129959703	129959703	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaacacaatgctttcctgtgGatctccagcagactctccga	7	13	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:129959703G>T	uc003qbr.2	-	3	477	c.388C>A	c.(388-390)CCA>ACA	p.P130T	ARHGAP18_uc011ebw.1_Missense_Mutation_p.P130T	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	130					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			ovary(2)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CTTTCCTGTGGATCTCCAGCA	0.463													T	129959703	G	T	129959703	3	4	16	1	0	0	0	0	1	0	0	0	868	1174	41	5	1655	5	ARHGAP18	6	129959703	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1641635	129959703	41155364	507	12829											
SHPRH	257218	broad.mit.edu	37	chr6	146262872	146262872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctggttccgtaggcgacGcccatcctcactattgctat	8	14	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:146262872G>A	uc003qlf.2	-	10	2776	c.2377C>T	c.(2377-2379)CGT>TGT	p.R793C	SHPRH_uc003qld.2_Missense_Mutation_p.R793C|SHPRH_uc003qle.2_Missense_Mutation_p.R793C|SHPRH_uc003qlg.1_Missense_Mutation_p.R349C|SHPRH_uc003qlj.1_Missense_Mutation_p.R682C	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	793	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CGTAGGCGACGCCCATCCTCA	0.468													A	146262872	G	A	146262872	3	1	16	1	0	0	0	0	1	0	0	0	14291	1087	38	1	2802	1	SHPRH	6	146262872	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	16303169	146262872	24852195	508	12830											
ULBP1	80329	broad.mit.edu	37	chr6	150290280	150290280	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcccatggacacggcagaGgatcttggcagttcctcttc	11	12	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:150290280G>T	uc003qnp.2	+	3	452	c.409G>T	c.(409-411)GGA>TGA	p.G137*		NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1 precursor	137	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity			pancreas(1)	1		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		ACACGGCAGAGGATCTTGGCA	0.512													T	150290280	G	T	150290280	4	4	16	1	0	0	0	0	0	1	0	0	16969	1001	35	5	419	5	ULBP1	6	150290280	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	4027408	150290280	20824787	509	12831											
C6orf211	79624	broad.mit.edu	37	chr6	151785658	151785658	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctatgggtcacaggaatccAtcattgctttatgtactcac	7	10	4	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:151785658A>T	uc003qok.1	+	4	722	c.463A>T	c.(463-465)ATC>TTC	p.I155F	C6orf211_uc011ees.1_Missense_Mutation_p.I36F	NM_024573	NP_078849	Q9H993	CF211_HUMAN	hypothetical protein LOC79624	155							protein binding				0			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		ACAGGAATCCATCATTGCTTT	0.328													T	151785658	A	T	151785658	3	4	16	1	0	0	0	0	1	0	0	0	2354	217	8	5	477	5	C6orf211	6	151785658	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	1495378	151785658	19329409	510	12832											
SYNE1	23345	broad.mit.edu	37	chr6	152469223	152469223	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtagaaatctttgtcatcCtgaccttcttcatcctcaga	6	11	5	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:152469223C>A	uc010kiw.2	-	137	25535	c.24933G>T	c.(24931-24933)CAG>CAT	p.Q8311H	SYNE1_uc010kiv.2_Missense_Mutation_p.Q2835H|SYNE1_uc003qos.3_Missense_Mutation_p.Q2835H|SYNE1_uc003qot.3_Missense_Mutation_p.Q8240H|SYNE1_uc003qou.3_Missense_Mutation_p.Q8311H|SYNE1_uc003qop.3_Missense_Mutation_p.Q473H|SYNE1_uc011eez.1_Missense_Mutation_p.Q513H|SYNE1_uc003qoq.3_Missense_Mutation_p.Q513H|SYNE1_uc003qor.3_Missense_Mutation_p.Q1211H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8311	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)		CTTTGTCATCCTGACCTTCTT	0.512										HNSCC(10;0.0054)			A	152469223	C	A	152469223	3	1	16	1	0	0	0	0	1	0	0	0	15442	680	24	5	1573	5	SYNE1	6	152469223	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	683565	152469223	18645844	511	12833											
TIAM2	26230	broad.mit.edu	37	chr6	155561718	155561718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaacgacagtcaggccaacGgcatggaaggaccgcgggag	15	10	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:155561718G>A	uc003qqb.2	+	18	4496	c.3223G>A	c.(3223-3225)GGC>AGC	p.G1075S	TIAM2_uc003qqe.2_Missense_Mutation_p.G1075S|TIAM2_uc010kjj.2_Missense_Mutation_p.G608S|TIAM2_uc003qqf.2_Missense_Mutation_p.G451S|TIAM2_uc011efl.1_Missense_Mutation_p.G411S|TIAM2_uc003qqg.2_Missense_Mutation_p.G387S|TIAM2_uc003qqh.2_5'UTR	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1075					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)		TCAGGCCAACGGCATGGAAGG	0.577													A	155561718	G	A	155561718	3	1	16	1	0	0	0	0	1	0	0	0	15888	1116	39	1	3273	1	TIAM2	6	155561718	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	3092495	155561718	15553349	512	12834											
SYNJ2	8871	broad.mit.edu	37	chr6	158492720	158492720	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catccgcttccagttccacaGcaccagcttctgcttcatat	5	16	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:158492720G>T	uc003qqx.1	+	15	2102	c.2027G>T	c.(2026-2028)AGC>ATC	p.S676I	SYNJ2_uc003qqw.1_Missense_Mutation_p.S676I|SYNJ2_uc003qqy.1_Missense_Mutation_p.S389I|SYNJ2_uc003qqz.1_Missense_Mutation_p.S293I|SYNJ2_uc003qra.1_Missense_Mutation_p.S19I	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	676	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CAGTTCCACAGCACCAGCTTC	0.587													T	158492720	G	T	158492720	3	4	16	1	0	0	0	0	1	0	0	0	15450	971	34	5	2085	5	SYNJ2	6	158492720	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2931002	158492720	12622347	513	12835											
ACAT2	39	broad.mit.edu	37	chr6	160199806	160199806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagaagtcgtggtgttgCagccctgtgcattgggggtg	19	7	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:160199806C>T	uc010kjy.2	+	9	1270	c.1139C>T	c.(1138-1140)GCA>GTA	p.A380V	ACAT2_uc011efw.1_Missense_Mutation_p.A409V|TCP1_uc003qsr.2_3'UTR|TCP1_uc003qss.2_3'UTR|TCP1_uc010kjz.2_3'UTR|TCP1_uc003qst.2_3'UTR	NM_005891	NP_005882	Q9BWD1	THIC_HUMAN	acetyl-Coenzyme A acetyltransferase 2	380						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CGTGGTGTTGCAGCCCTGTGC	0.468													T	160199806	C	T	160199806	3	4	16	1	0	0	0	0	1	0	0	0	122	710	25	2	1173	2	ACAT2	6	160199806	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1707086	160199806	10915261	514	12836											
LPA	4018	broad.mit.edu	37	chr6	161027563	161027563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtaatagttggaggcgcgaCggcagtcccttctgcgtctg	15	10	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:161027563C>T	uc003qtl.2	-	18	2851	c.2731G>A	c.(2731-2733)GTC>ATC	p.V911I		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3419	Kringle 30.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGAGGCGCGACGGCAGTCCCT	0.547													T	161027563	C	T	161027563	3	4	16	1	0	0	0	0	1	0	0	0	8903	536	19	1	3483	1	LPA	6	161027563	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	827757	161027563	10087504	515	12837											
PHF10	55274	broad.mit.edu	37	chr6	170118937	170118937	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatattcactgacttgttctTgaagcatatagtattctcct	5	8	3	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr6:170118937T>C	uc011egy.1	-	3	351	c.272A>G	c.(271-273)CAA>CGA	p.Q91R	PHF10_uc011egz.1_Missense_Mutation_p.Q91R|PHF10_uc011eha.1_5'Flank	NM_018288	NP_060758	Q8WUB8	PHF10_HUMAN	PHD finger protein 10 isoform a	91	SAY.|Essential to induce neural progenitor proliferation (By similarity).				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			urinary_tract(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		GACTTGTTCTTGAAGCATATA	0.299													C	170118937	T	C	170118937	3	2	16	1	0	0	0	0	1	0	0	0	11821	1812	63	3	1264	3	PHF10	6	170118937	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	9091374	170118937	996130	516	12838											
HEATR2	54919	broad.mit.edu	37	chr7	769421	769421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgatccattttggcaaCgggaagtccgtggacgacgt	14	9	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:769421C>T	uc010krz.1	+	2	737	c.717C>T	c.(715-717)AAC>AAT	p.N239N	PRKAR1B_uc003siw.1_5'Flank|HEATR2_uc003siz.2_Silent_p.N107N	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	239	HEAT 2.						protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		ATTTTGGCAACGGGAAGTCCG	0.567													T	769421	C	T	769421	2	4	16	1	0	0	0	0	0	0	0	1	7028	535	19	1		1	HEATR2	7	769421	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08		769421	158369242	517	12839											
SUN1	23353	broad.mit.edu	37	chr7	872217	872217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgtgtgccggagaacaCgggctacacgtatgcgctca	13	12	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:872217C>T	uc011jvp.1	+	2	135	c.56C>T	c.(55-57)ACG>ATG	p.T19M	SUN1_uc010ksa.1_Missense_Mutation_p.T40M|SUN1_uc003sje.1_Missense_Mutation_p.T19M|SUN1_uc003sjf.2_Intron|SUN1_uc011jvq.1_Missense_Mutation_p.T19M	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	19	Nuclear.|LMNA-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						CCGGAGAACACGGGCTACACG	0.567													T	872217	C	T	872217	3	4	16	1	0	0	0	0	1	0	0	0	15388	536	19	1	125	1	SUN1	7	872217	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	102796	872217	158266446	518	12840											
EIF3B	8662	broad.mit.edu	37	chr7	2418871	2418871	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacgagcgcctggagttgCgaggaggtaacttagagatc	14	7	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:2418871C>T	uc003slx.2	+	17	2418	c.2335C>T	c.(2335-2337)CGA>TGA	p.R779*	EIF3B_uc003sly.2_Nonsense_Mutation_p.R779*|EIF3B_uc003sma.2_Nonsense_Mutation_p.R507*|EIF3B_uc003smb.2_RNA	NM_003751	NP_003742	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3,	779					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity				0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CCTGGAGTTGCGAGGAGGTAA	0.592													T	2418871	C	T	2418871	4	4	16	1	0	0	0	0	0	1	0	0	5013	760	27	1	2401	1	EIF3B	7	2418871	Nonsense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1546654	2418871	156719792	519	12841											
CARD11	84433	broad.mit.edu	37	chr7	2968323	2968324	+	Frame_Shift_Ins	INS	-	-	G													atgatgctgctgcggctccgINSggggggctgcttcagacaca							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:2968322_2968323C>CG	uc003smv.3	-	12	1997_1998	c.1663_1664G>CG	c.(1663-1665)cggfs	p.R555fs		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	555					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.R548L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTGCGGCTCCGGGGGGGCTGC	0.589			Mis		DLBCL								G	2968324	-	G	2968323	7	5	16	1	0	1	1	0	0	0	0	0	2645	1115	39	0	1853	0	CARD11	7	2968323	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	549452	2968323	156170340	520	12842											
CYTH3	9265	broad.mit.edu	37	chr7	6210230	6210230	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtcaggtcgttcccgtcGtcctccgggatcttaaatgg	13	11	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:6210230G>A	uc003spt.2	-	9	863	c.759C>T	c.(757-759)GAC>GAT	p.D253D	CYTH3_uc011jws.1_Silent_p.D168D	NM_004227	NP_004218	O43739	CYH3_HUMAN	cytohesin 3	253					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity				0						CGTTCCCGTCGTCCTCCGGGA	0.602													A	6210230	G	A	6210230	2	1	16	1	0	0	0	0	0	0	0	1	4205	1136	40	1		1	CYTH3	7	6210230	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	3241907	6210230	152928433	521	12843											
SNX13	23161	broad.mit.edu	37	chr7	17855827	17855827	+	Frame_Shift_Del	DEL	T	T	-													gcaaatatgcatttagatccTtttttctcttttctaaaaaa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:17855827delT	uc003stw.1	-	19	2177	c.1964delA	c.(1963-1965)AAGfs	p.K655fs	SNX13_uc003stv.2_Frame_Shift_Del_p.K644fs|SNX13_uc010kuc.2_Frame_Shift_Del_p.K441fs|SNX13_uc010kub.2_Frame_Shift_Del_p.K50fs			Q9Y5W8	SNX13_HUMAN	SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;	655	PX.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			central_nervous_system(2)|kidney(1)	3	Lung NSC(10;0.0261)|all_lung(11;0.0521)					ATTTAGATCCTTTTTTCTCTT	0.274													-	17855827	T	-	17855827	7	5	16	1	0	1	0	1	0	0	0	0	14884	1609	56	0	974	0	SNX13	7	17855827	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	11645597	17855827	141282836	522	12844											
DNAH11	8701	broad.mit.edu	37	chr7	21747335	21747335	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattttgagaacactgaacCgaacatatgttaacatgaaa	7	6	0	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:21747335C>T	uc003svc.2	+	41	6617	c.6586C>T	c.(6586-6588)CGA>TGA	p.R2196*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2196	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AACACTGAACCGAACATATGT	0.378									Kartagener_syndrome				T	21747335	C	T	21747335	4	4	16	1	0	0	0	0	0	1	0	0	4599	644	23	1	6745	1	DNAH11	7	21747335	Nonsense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3891508	21747335	137391328	523	12845											
IGF2BP3	10643	broad.mit.edu	37	chr7	23509592	23509592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttgagggcccagctctcGtccgggcagtccacgaacgc	13	16	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:23509592G>A	uc003swg.2	-	1	404	c.138C>T	c.(136-138)GAC>GAT	p.D46D	IGF2BP3_uc003swh.1_RNA	NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding	46	RRM 1.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			ovary(2)	2						CCCAGCTCTCGTCCGGGCAGT	0.697													A	23509592	G	A	23509592	2	1	16	1	0	0	0	0	0	0	0	1	7575	1136	40	1		1	IGF2BP3	7	23509592	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1762257	23509592	135629071	524	12846											
STK31	56164	broad.mit.edu	37	chr7	23811811	23811811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaataagagtcccagtgtgGatcacttgctatccattaag	8	8	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:23811811G>A	uc003sws.3	+	15	1946	c.1879G>A	c.(1879-1881)GAT>AAT	p.D627N	STK31_uc003swt.3_Missense_Mutation_p.D604N|STK31_uc011jze.1_Missense_Mutation_p.D627N|STK31_uc010kuq.2_Missense_Mutation_p.D604N	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	627							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						TCCCAGTGTGGATCACTTGCT	0.303													A	23811811	G	A	23811811	3	1	16	1	0	0	0	0	1	0	0	0	15295	1174	41	4	1937	4	STK31	7	23811811	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	302219	23811811	135326852	525	12847											
HOXA3	3200	broad.mit.edu	37	chr7	27149829	27149829	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgggtgagttgagcaggGggctcttggccgcgttggca	19	8	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:27149829G>T	uc011jzl.1	-	2	631	c.431C>A	c.(430-432)CCC>CAC	p.P144H	HOXA3_uc011jzk.1_5'UTR|HOXA3_uc003syk.2_Missense_Mutation_p.P144H	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	144					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2						GTTGAGCAGGGGGCTCTTGGC	0.453													T	27149829	G	T	27149829	3	4	16	1	0	0	0	0	1	0	0	0	7293	1232	43	5	908	5	HOXA3	7	27149829	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	3338018	27149829	131988834	526	12848											
C7orf41	222166	broad.mit.edu	37	chr7	30185810	30185810	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacgtgtggagtgagagCgaggactgcctgcctttctt	14	10	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:30185810C>T	uc011kab.1	+	2	381	c.180C>T	c.(178-180)AGC>AGT	p.S60S	C7orf41_uc010kvr.1_RNA|C7orf41_uc003tar.1_Silent_p.S60S	NM_152793	NP_690006	Q8N3F0	CG041_HUMAN	hypothetical protein LOC222166	60											0						GGAGTGAGAGCGAGGACTGCC	0.522													T	30185810	C	T	30185810	2	4	16	1	0	0	0	0	0	0	0	1	2391	767	27	1		1	C7orf41	7	30185810	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3035981	30185810	128952853	527	12849											
PDE1C	5137	broad.mit.edu	37	chr7	31890296	31890296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtggttccggtatgctcGtagtcatggatggcagctga	15	7	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:31890296G>A	uc003tcm.1	-	8	1279	c.810C>T	c.(808-810)TAC>TAT	p.Y270Y	PDE1C_uc003tcn.1_Silent_p.Y270Y|PDE1C_uc003tco.1_Silent_p.Y330Y|PDE1C_uc003tcr.2_Silent_p.Y270Y|PDE1C_uc003tcs.2_Silent_p.Y270Y	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	270	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			CGGTATGCTCGTAGTCATGGA	0.443													A	31890296	G	A	31890296	2	1	16	1	0	0	0	0	0	0	0	1	11635	1140	40	1		1	PDE1C	7	31890296	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1704486	31890296	127248367	528	12850											
GLI3	2737	broad.mit.edu	37	chr7	42005174	42005174	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaggtcggcgcttccggagCtgacttcgttccactgaatg	12	12	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:42005174C>A	uc011kbh.1	-	15	3588	c.3497G>T	c.(3496-3498)AGC>ATC	p.S1166I	GLI3_uc011kbg.1_Missense_Mutation_p.S1107I	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1166					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GCTTCCGGAGCTGACTTCGTT	0.667									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42005174	C	A	42005174	3	1	16	1	0	0	0	0	1	0	0	0	6439	797	28	5	1249	5	GLI3	7	42005174	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	10114878	42005174	117133489	529	12851											
GLI3	2737	broad.mit.edu	37	chr7	42012141	42012141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtgacatgagcctctgggCcatgcactgtcttcacatgt	11	11	3	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:42012141C>A	uc011kbh.1	-	13	1989	c.1898G>T	c.(1897-1899)GGC>GTC	p.G633V	GLI3_uc011kbg.1_Missense_Mutation_p.G574V	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	633					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						AGCCTCTGGGCCATGCACTGT	0.577									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42012141	C	A	42012141	3	1	16	1	0	0	0	0	1	0	0	0	6439	739	26	5	2856	5	GLI3	7	42012141	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	6967	42012141	117126522	530	12852											
GLI3	2737	broad.mit.edu	37	chr7	42064869	42064869	+	Frame_Shift_Del	DEL	C	C	-													cctcggtgtcctacctgctgCccccgagcccctgggctggg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:42064868_42064868GC>G	uc011kbh.2	-	8	1442	c.1351_1351GC>C	c.(1351-1353)cagfs	p.Q451fs	GLI3_uc011kbg.2_Frame_Shift_Del_p.Q392fs	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	451					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CCTACCTGCTGCCCCCGAGCC	0.622									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				-	42064869	C	-	42064869	7	5	16	1	0	1	0	1	0	0	0	0	6439	726	26	0	3420	0	GLI3	7	42064869	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	52728	42064869	117073794	531	12853											
AEBP1	165	broad.mit.edu	37	chr7	44151800	44151800	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggagggctttgacatcttTgaagatttcccggatctcaa	11	8	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:44151800T>C	uc003tkb.2	+	17	2402	c.2097T>C	c.(2095-2097)TTT>TTC	p.F699F	AEBP1_uc003tkc.3_Silent_p.F274F|AEBP1_uc003tkd.2_Intron	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	699	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TTGACATCTTTGAAGATTTCC	0.587													C	44151800	T	C	44151800	2	2	16	1	0	0	0	0	0	0	0	1	349	1809	63	3		3	AEBP1	7	44151800	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	2086931	44151800	114986863	532	12854											
OGDH	4967	broad.mit.edu	37	chr7	44747227	44747228	+	Frame_Shift_Ins	INS	-	-	C													ctgaaggaggtgcagaagtaINSccccaatgctgagctggcct							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:44747227_44747228insC	uc003tln.2	+	22	2952_2953	c.2843_2844insC	c.(2842-2844)TACfs	p.Y948fs	OGDH_uc011kbx.1_Frame_Shift_Ins_p.Y944fs|OGDH_uc011kby.1_Frame_Shift_Ins_p.Y798fs|OGDH_uc003tlp.2_Frame_Shift_Ins_p.Y959fs|OGDH_uc011kbz.1_Frame_Shift_Ins_p.Y743fs	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	948					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	GTGCAGAAGTACCCCAATGCTG	0.564													C	44747228	-	C	44747227	7	5	16	1	0	1	1	0	0	0	0	0	10839	391	14	0	3098	0	OGDH	7	44747227	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	595427	44747227	114391436	533	12855	37	2									
OGDH	4967	broad.mit.edu	37	chr7	44747228	44747229	+	Frame_Shift_Ins	INS	-	-	C													tgaaggaggtgcagaagtacINScccaatgctgagctggcctg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:44747227_44747228A>AC	uc003tln.3	+	21	3002_3003	c.2843_2844A>AC	c.(2842-2844)tacfs	p.Y948fs	OGDH_uc011kbx.2_Frame_Shift_Ins_p.Y944fs|OGDH_uc011kby.2_Frame_Shift_Ins_p.Y798fs|OGDH_uc003tlp.3_Frame_Shift_Ins_p.Y959fs|OGDH_uc011kbz.2_Frame_Shift_Ins_p.Y743fs	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	948					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GTGCAGAAGTACCCCAATGCTG	0.564													C	44747229	-	C	44747228	7	5	16	1	0	1	1	0	0	0	0	0	10839	518	18	0	3099	0	OGDH	7	44747228	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1	44747228	114391435	534	12856	37	2									
ZMIZ2	83637	broad.mit.edu	37	chr7	44806205	44806205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttcagtcctgccacaggCgtgatggggccccccagcat	12	16	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:44806205C>T	uc003tlr.2	+	18	2721	c.2598C>T	c.(2596-2598)GGC>GGT	p.G866G	ZMIZ2_uc003tlq.2_Silent_p.G808G|ZMIZ2_uc003tls.2_Silent_p.G840G|ZMIZ2_uc003tlt.2_Silent_p.G489G|ZMIZ2_uc010kyj.2_Silent_p.G388G|ZMIZ2_uc003tlu.2_Silent_p.G147G|ZMIZ2_uc010kyk.1_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	866	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						CTGCCACAGGCGTGATGGGGC	0.677													T	44806205	C	T	44806205	2	4	16	1	0	0	0	0	0	0	0	1	17694	755	27	1		1	ZMIZ2	7	44806205	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	58977	44806205	114332458	535	12857											
MYO1G	64005	broad.mit.edu	37	chr7	45016545	45016545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatagagatggggtggcCgctcatagagctcacggccc	14	12	2	2	rs144045009	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:45016545C>T	uc003tmh.2	-	2	365	c.221G>A	c.(220-222)CGG>CAG	p.R74Q	MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.2_5'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	myosin IG	74	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|ovary(1)|pancreas(1)	4						ATGGGGTGGCCGCTCATAGAG	0.627													T	45016545	C	T	45016545	3	4	16	1	0	0	0	0	1	0	0	0	10074	652	23	1	2919	1	MYO1G	7	45016545	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	210340	45016545	114122118	536	12858											
ABCA13	154664	broad.mit.edu	37	chr7	48375117	48375117	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagtggaagtggccagatGttcaaccagctgcaggtgag	15	7	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:48375117G>T	uc003toq.2	+	28	10123	c.10098G>T	c.(10096-10098)ATG>ATT	p.M3366I	ABCA13_uc010kys.1_Missense_Mutation_p.M440I|ABCA13_uc003tos.1_Missense_Mutation_p.M192I	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3366					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GTGGCCAGATGTTCAACCAGC	0.483													T	48375117	G	T	48375117	3	4	16	1	0	0	0	0	1	0	0	0	31	1377	48	5	10037	5	ABCA13	7	48375117	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	3358572	48375117	110763546	537	12859											
ABCA13	154664	broad.mit.edu	37	chr7	48411974	48411974	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctacctcttgagtgcattTttcagccaagctaatacagc	7	11	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:48411974T>G	uc003toq.2	+	33	11038	c.11013T>G	c.(11011-11013)TTT>TTG	p.F3671L	ABCA13_uc010kys.1_Missense_Mutation_p.F745L|ABCA13_uc003tos.1_Missense_Mutation_p.F497L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3671					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TGAGTGCATTTTTCAGCCAAG	0.428													G	48411974	T	G	48411974	3	3	16	1	0	0	0	0	1	0	0	0	31	1838	64	5	10972	5	ABCA13	7	48411974	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	36857	48411974	110726689	538	12860											
COBL	23242	broad.mit.edu	37	chr7	51097038	51097038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcatggggctggctgtgCtcagcttgaagtggcgccag	15	9	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:51097038C>T	uc003tpr.3	-	10	1940	c.1755G>A	c.(1753-1755)GAG>GAA	p.E585E	COBL_uc003tps.2_Silent_p.E642E|COBL_uc011kcl.1_Silent_p.E585E|COBL_uc003tpp.3_Silent_p.E371E|COBL_uc003tpq.3_Silent_p.E526E|COBL_uc003tpo.3_Silent_p.E127E	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	585										skin(3)|ovary(2)	5	Glioma(55;0.08)					GCTGGCTGTGCTCAGCTTGAA	0.547													T	51097038	C	T	51097038	2	4	16	1	0	0	0	0	0	0	0	1	3653	796	28	2		2	COBL	7	51097038	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2685064	51097038	108041625	539	12861											
AUTS2	26053	broad.mit.edu	37	chr7	70255840	70255840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcctcaacaagacccctcCgacagcagcgctgagcgcac	8	18	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:70255840C>T	uc003tvw.3	+	19	4381	c.3638C>T	c.(3637-3639)CCG>CTG	p.P1213L	AUTS2_uc003tvx.3_Missense_Mutation_p.P1189L|AUTS2_uc011keg.1_Missense_Mutation_p.P665L	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	1213										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AAGACCCCTCCGACAGCAGCG	0.677													T	70255840	C	T	70255840	3	4	16	1	0	0	0	0	1	0	0	0	1225	652	23	1	3857	1	AUTS2	7	70255840	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	19158802	70255840	88882823	540	12862											
TBL2	26608	broad.mit.edu	37	chr7	72985121	72985121	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtattgtagagatgaaTactactgccactggccaagg	12	9	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:72985121T>C	uc003tyh.2	-	7	1194	c.1060A>G	c.(1060-1062)ATT>GTT	p.I354V	TBL2_uc011kex.1_Missense_Mutation_p.I318V|TBL2_uc010lbg.2_Missense_Mutation_p.I259V|TBL2_uc003tyi.2_Missense_Mutation_p.I189V|TBL2_uc011key.1_Missense_Mutation_p.I225V|TBL2_uc010lbh.2_Missense_Mutation_p.I259V	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	354	WD 6.										0		Lung NSC(55;0.0659)|all_lung(88;0.152)				TAGAGATGAATACTACTGCCA	0.627													C	72985121	T	C	72985121	3	2	16	1	0	0	0	0	1	0	0	0	15639	1406	49	3	287	3	TBL2	7	72985121	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	2729281	72985121	86153542	541	12863											
MLXIPL	51085	broad.mit.edu	37	chr7	73011554	73011554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggggttgttgctccccgCagtggtggggggactggcag	20	9	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:73011554C>T	uc003tyn.1	-	9	1609	c.1561G>A	c.(1561-1563)GCG>ACG	p.A521T	MLXIPL_uc003tyj.1_5'UTR|MLXIPL_uc003tyk.1_Missense_Mutation_p.A521T|MLXIPL_uc003tyl.1_Missense_Mutation_p.A521T|MLXIPL_uc003tym.1_Missense_Mutation_p.A521T|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.A428T|MLXIPL_uc003tyq.1_Missense_Mutation_p.A263T	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	521					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTGCTCCCCGCAGTGGTGGGG	0.687													T	73011554	C	T	73011554	3	4	16	1	0	0	0	0	1	0	0	0	9637	710	25	2	1033	2	MLXIPL	7	73011554	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	26433	73011554	86127109	542	12864											
GTF2I	2969	broad.mit.edu	37	chr7	74159243	74159243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccacgacttgaaaggatcGtccgcgggagtaataaaatc	10	9	0	1	rs139477988		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:74159243G>A	uc003uau.2	+	21	2267	c.1897G>A	c.(1897-1899)GTC>ATC	p.V633I	GTF2I_uc003uav.2_Missense_Mutation_p.V612I|GTF2I_uc003uaw.2_Missense_Mutation_p.V613I|GTF2I_uc003uay.2_Missense_Mutation_p.V611I|GTF2I_uc003uax.2_Missense_Mutation_p.V592I	NM_032999	NP_127492	P78347	GTF2I_HUMAN	general transcription factor IIi isoform 1	633	GTF2I-like 4.				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0						TGAAAGGATCGTCCGCGGGAG	0.418													A	74159243	G	A	74159243	3	1	16	1	0	0	0	0	1	0	0	0	6867	1145	40	1	1975	1	GTF2I	7	74159243	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1147689	74159243	84979420	543	12865											
POM121C	100101267	broad.mit.edu	37	chr7	75066870	75066870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggatgccacttgtgtaagCgcctgtcaaggagctcatgg	14	9	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:75066870C>T	uc010lde.1	-	5	1129	c.1129G>A	c.(1129-1131)GCT>ACT	p.A377T	POM121C_uc003udk.3_Missense_Mutation_p.A135T			A8CG34	P121C_HUMAN	Homo sapiens POM121-2 mRNA for nuclear pore membrane protein 121-2, partial cds.	377	Required for targeting to the nucleus and nuclear pore complex.|Pore side (Potential).|Ser-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding				0						CTTGTGTAAGCGCCTGTCAAG	0.507													T	75066870	C	T	75066870	3	4	16	1	0	0	0	0	1	0	0	0	12240	768	27	1	2596	1	POM121C	7	75066870	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	907627	75066870	84071793	544	12866											
SRCRB4D	136853	broad.mit.edu	37	chr7	76029799	76029799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagctggcgacacactacGttggcgtccaccacgtccca	9	18	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:76029799G>A	uc003ufb.2	-	4	627	c.279C>T	c.(277-279)AAC>AAT	p.N93N	ZP3_uc003ufc.3_Intron	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain	93	SRCR 1.					extracellular region|membrane	scavenger receptor activity			pancreas(1)	1						GACACACTACGTTGGCGTCCA	0.697													A	76029799	G	A	76029799	2	1	16	1	0	0	0	0	0	0	0	1	15136	1136	40	1		1	SRCRB4D	7	76029799	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	962929	76029799	83108864	545	12867											
PCLO	27445	broad.mit.edu	37	chr7	82390067	82390067	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgatcacctttttttgggtaGaaatattcatcacatatatt	5	6	3	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:82390067G>T	uc003uhx.2	-	24	15465	c.15176C>A	c.(15175-15177)TCT>TAT	p.S5059Y		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4982	C2 2.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TTTTTGGGTAGAAATATTCAT	0.299													T	82390067	G	T	82390067	3	4	16	1	0	0	0	0	1	0	0	0	11583	942	33	5	260	5	PCLO	7	82390067	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	6360268	82390067	76748596	546	12868											
KIAA1324L	222223	broad.mit.edu	37	chr7	86522383	86522383	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagaaattcctttaatgcAccatttaggttcattccaca	4	10	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:86522383A>G	uc011kha.1	-	20	2904	c.2719T>C	c.(2719-2721)TGC>CGC	p.C907R	KIAA1324L_uc003uif.1_Missense_Mutation_p.C667R|KIAA1324L_uc011kgz.1_Missense_Mutation_p.C793R|KIAA1324L_uc003uie.2_Missense_Mutation_p.C740R	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	907	Extracellular (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)					CCTTTAATGCACCATTTAGGT	0.398													G	86522383	A	G	86522383	3	3	16	1	0	0	0	0	1	0	0	0	8224	159	6	3	382	3	KIAA1324L	7	86522383	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	4132316	86522383	72616280	547	12869											
FZD1	8321	broad.mit.edu	37	chr7	90894471	90894471	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcagcaaccgccgccgccGcctcagcagcaacagagcgg	14	17	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:90894471G>T	uc003ula.2	+	1	689	c.276G>T	c.(274-276)CCG>CCT	p.P92P		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	92	Poly-Pro.|Extracellular (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CGCCGCCGCCGCCTCAGCAGC	0.517													T	90894471	G	T	90894471	2	4	16	1	0	0	0	0	0	0	0	1	6128	1074	38	5		5	FZD1	7	90894471	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	4372088	90894471	68244192	548	12870											
MTERF	7978	broad.mit.edu	37	chr7	91503750	91503750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatatgatgctagcgatcaCttctttgctagctcctttgg	9	9	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:91503750C>T	uc003ulb.1	-	2	402	c.358G>A	c.(358-360)GTG>ATG	p.V120M	MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Missense_Mutation_p.V120M|MTERF_uc011khm.1_Missense_Mutation_p.V100M|MTERF_uc010leu.1_Missense_Mutation_p.V100M	NM_006980	NP_008911	Q99551	MTERF_HUMAN	mitochondrial transcription termination factor	120					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding				0	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			CTAGCGATCACTTCTTTGCTA	0.438													T	91503750	C	T	91503750	3	4	16	1	0	0	0	0	1	0	0	0	9918	565	20	4	845	4	MTERF	7	91503750	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	609279	91503750	67634913	549	12871											
COL1A2	1278	broad.mit.edu	37	chr7	94054966	94054966	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtcgcgatggtcaaccCggacacaaggtcagtacact	11	13	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:94054966C>T	uc003ung.1	+	43	3297	c.2826C>T	c.(2824-2826)CCC>CCT	p.P942P	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	942					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ATGGTCAACCCGGACACAAGG	0.488										HNSCC(75;0.22)			T	94054966	C	T	94054966	2	4	16	1	0	0	0	0	0	0	0	1	3678	639	23	1		1	COL1A2	7	94054966	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2551216	94054966	65083697	550	12872											
DLX6	1750	broad.mit.edu	37	chr7	96639132	96639132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatatggtttcagaacaaaCgctctaagtttaagaaactg	8	6	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:96639132C>T	uc003uom.2	+	4	571	c.571C>T	c.(571-573)CGC>TGC	p.R191C	DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	distal-less homeobox 6	101	Homeobox.				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TCAGAACAAACGCTCTAAGTT	0.527													T	96639132	C	T	96639132	3	4	16	1	0	0	0	0	1	0	0	0	4575	536	19	1	665	1	DLX6	7	96639132	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2584166	96639132	62499531	551	12873											
TRRAP	8295	broad.mit.edu	37	chr7	98581030	98581030	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgactgcccatcgtgtctgaCgacttgtcccactggagcag	11	14	1	1	rs148646770		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:98581030C>T	uc003upp.2	+	59	9158	c.8949C>T	c.(8947-8949)GAC>GAT	p.D2983D	TRRAP_uc011kis.1_Silent_p.D2965D|TRRAP_uc003upr.2_Silent_p.D2682D	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2983	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCGTGTCTGACGACTTGTCCC	0.408													T	98581030	C	T	98581030	2	4	16	1	0	0	0	0	0	0	0	1	16598	535	19	1		1	TRRAP	7	98581030	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1941898	98581030	60557633	552	12874											
ZSCAN21	7589	broad.mit.edu	37	chr7	99654966	99654966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagcattgcccggagagcGctgaagaggctgtcactctc	14	11	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:99654966G>A	uc003uso.2	+	2	481	c.337G>A	c.(337-339)GCT>ACT	p.A113T	ZSCAN21_uc011kje.1_Missense_Mutation_p.A112T|ZSCAN21_uc003usn.1_Missense_Mutation_p.A112T	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	zinc finger protein 38	113	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CCCGGAGAGCGCTGAAGAGGC	0.592													A	99654966	G	A	99654966	3	1	16	1	0	0	0	0	1	0	0	0	18230	1087	38	1	339	1	ZSCAN21	7	99654966	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1073936	99654966	59483697	553	12875											
C7orf51	222950	broad.mit.edu	37	chr7	100087129	100087129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgcaggagcaagggacCgatgggggtgcttttgccag	17	9	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:100087129C>T	uc003uvd.1	+	4	1944	c.1785C>T	c.(1783-1785)ACC>ACT	p.T595T	C7orf51_uc003uve.1_Silent_p.T377T	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	595										skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCAAGGGACCGATGGGGGTG	0.637													T	100087129	C	T	100087129	2	4	16	1	0	0	0	0	0	0	0	1	2400	639	23	1		1	C7orf51	7	100087129	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	432163	100087129	59051534	554	12876											
TFR2	7036	broad.mit.edu	37	chr7	100218519	100218519	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagacatccccgctaagCgcattggctgccccttgcag	9	16	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:100218519C>T	uc003uvv.1	-	18	2408	c.2367G>A	c.(2365-2367)GCG>GCA	p.A789A	TFR2_uc010lhc.1_Silent_p.A330A|TFR2_uc003uvu.1_Silent_p.A618A	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	transferrin receptor 2	789	Extracellular (Potential).				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			ovary(1)|pancreas(1)	2	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCGCTAAGCGCATTGGCTG	0.632													T	100218519	C	T	100218519	2	4	16	1	0	0	0	0	0	0	0	1	15808	755	27	1		1	TFR2	7	100218519	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	131390	100218519	58920144	555	12877											
TFR2	7036	broad.mit.edu	37	chr7	100226903	100226903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatggaggaaaaggtccGcaccagctccaggagtatag	12	11	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:100226903G>A	uc003uvv.1	-	10	1404	c.1363C>T	c.(1363-1365)CGG>TGG	p.R455W	TFR2_uc010lhc.1_5'UTR|TFR2_uc003uvu.1_Missense_Mutation_p.R284W	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	transferrin receptor 2	455	Extracellular (Potential).				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			ovary(1)|pancreas(1)	2	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GAAAAGGTCCGCACCAGCTCC	0.622													A	100226903	G	A	100226903	3	1	16	1	0	0	0	0	1	0	0	0	15808	1086	38	1	1078	1	TFR2	7	100226903	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	8384	100226903	58911760	556	12878											
TRIP6	7205	broad.mit.edu	37	chr7	100468258	100468258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggggttgtggcccttgatCgcgtctttcacgtgggctgc	15	11	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:100468258C>T	uc003uww.2	+	6	1062	c.892C>T	c.(892-894)CGC>TGC	p.R298C	TRIP6_uc010lhk.1_RNA	NM_003302	NP_003293	Q15654	TRIP6_HUMAN	thyroid receptor-interacting protein 6	298	LIM zinc-binding 1.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCCCTTGATCGCGTCTTTCA	0.597													T	100468258	C	T	100468258	3	4	16	1	0	0	0	0	1	0	0	0	16556	884	31	1	914	1	TRIP6	7	100468258	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	241355	100468258	58670405	557	12879											
MLL5	55904	broad.mit.edu	37	chr7	104753027	104753028	+	Frame_Shift_Ins	INS	-	-	T													accacgtgactccagggcatINStttttgccctctcagaaccc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:104753026_104753027A>AT	uc003vcm.3	+	26	5357_5358	c.4823_4824A>AT	c.(4822-4824)catfs	p.H1608fs	MLL5_uc010ljc.3_Frame_Shift_Ins_p.H1608fs|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.3_Frame_Shift_Ins_p.H342fs	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	1608	Pro-rich.				DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						ACTCCAGGGCATTTTTTGCCCT	0.535													T	104753028	-	T	104753027	7	5	16	1	0	1	1	0	0	0	0	0	9624	1490	52	0	4922	0	MLL5	7	104753027	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	4284769	104753027	54385636	558	12880											
PIK3CG	5294	broad.mit.edu	37	chr7	106508373	106508373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagactctggactgcctgCgctactggaaggccacgcac	12	14	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:106508373C>T	uc003vdv.3	+	2	452	c.367C>T	c.(367-369)CGC>TGC	p.R123C	PIK3CG_uc003vdu.2_Missense_Mutation_p.R123C|PIK3CG_uc003vdw.2_Missense_Mutation_p.R123C	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	123					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						GGACTGCCTGCGCTACTGGAA	0.652													T	106508373	C	T	106508373	3	4	16	1	0	0	0	0	1	0	0	0	11916	768	27	1	369	1	PIK3CG	7	106508373	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1755346	106508373	52630290	559	12881											
PIK3CG	5294	broad.mit.edu	37	chr7	106523539	106523539	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcagcaaagcacagtgggCaacacgggagcatttaaaga	11	8	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:106523539C>A	uc003vdv.3	+	8	2776	c.2691C>A	c.(2689-2691)GGC>GGA	p.G897G	PIK3CG_uc003vdu.2_Silent_p.G897G|PIK3CG_uc003vdw.2_Silent_p.G897G	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	897	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						GCACAGTGGGCAACACGGGAG	0.463													A	106523539	C	A	106523539	2	1	16	1	0	0	0	0	0	0	0	1	11916	697	25	5		5	PIK3CG	7	106523539	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	15166	106523539	52615124	560	12882											
COG5	10466	broad.mit.edu	37	chr7	107198538	107198538	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctttacatcaaagtcttcGtttaaaaagtcactataaca	4	8	4	0	rs138518242		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:107198538G>A	uc003ved.2	-	2	735	c.210C>T	c.(208-210)AAC>AAT	p.N70N	COG5_uc003vec.2_Silent_p.N70N|COG5_uc003vee.2_Silent_p.N70N	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	70					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						CAAAGTCTTCGTTTAAAAAGT	0.338													A	107198538	G	A	107198538	2	1	16	1	0	0	0	0	0	0	0	1	3661	1136	40	1		1	COG5	7	107198538	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	674999	107198538	51940125	561	12883											
DOCK4	9732	broad.mit.edu	37	chr7	111377033	111377033	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccccgtctccaatatgatTaaacagcatcctctgcaaag	7	13	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:111377033T>C	uc003vfx.2	-	49	5487	c.5218A>G	c.(5218-5220)AAT>GAT	p.N1740D	DOCK4_uc011kml.1_Missense_Mutation_p.N621D|DOCK4_uc011kmm.1_Missense_Mutation_p.N647D|DOCK4_uc003vfw.2_Missense_Mutation_p.N1190D|DOCK4_uc003vfy.2_Missense_Mutation_p.N1785D|DOCK4_uc003vfv.2_Missense_Mutation_p.N53D	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1740	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				CCAATATGATTAAACAGCATC	0.453													C	111377033	T	C	111377033	3	2	16	1	0	0	0	0	1	0	0	0	4689	1754	61	3	698	3	DOCK4	7	111377033	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	4178495	111377033	47761630	562	12884											
FOXP2	93986	broad.mit.edu	37	chr7	114284763	114284763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacatgaggagactggggCctctcacactctctatggcc	11	13	3	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:114284763C>T	uc003vhb.2	+	8	1387	c.1013C>T	c.(1012-1014)GCC>GTC	p.A338V	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.A363V|FOXP2_uc003vha.2_Missense_Mutation_p.A246V|FOXP2_uc011kmu.1_Missense_Mutation_p.A355V|FOXP2_uc011kmv.1_Missense_Mutation_p.A337V|FOXP2_uc010ljz.1_Missense_Mutation_p.A246V|FOXP2_uc003vgx.2_Missense_Mutation_p.A338V|FOXP2_uc003vhd.2_Missense_Mutation_p.A338V|FOXP2_uc003vhc.2_Missense_Mutation_p.A363V	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	338					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						GAGACTGGGGCCTCTCACACT	0.438													T	114284763	C	T	114284763	3	4	16	1	0	0	0	0	1	0	0	0	6027	739	26	2	1173	2	FOXP2	7	114284763	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2907730	114284763	44853900	563	12885											
CTTNBP2	83992	broad.mit.edu	37	chr7	117431604	117431604	+	Frame_Shift_Del	DEL	T	T	-													gagtttgggagagccctggcTtttttggagggataggagga							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:117431604delT	uc003vjf.2	-	4	1738	c.1646delA	c.(1645-1647)AAGfs	p.K549fs		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	549	Pro-rich.									ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GAGCCCTGGCTTTTTTGGAGG	0.522													-	117431604	T	-	117431604	7	5	16	1	0	1	0	1	0	0	0	0	4045	1609	56	0	3425	0	CTTNBP2	7	117431604	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	3146841	117431604	41707059	564	12886											
ZNF800	168850	broad.mit.edu	37	chr7	127014061	127014061	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatttttctgtgctgccggTgtgttctttttttcatttga	8	6	3	1	rs17868513		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:127014061T>C	uc003vlx.1	-	5	1592	c.1329A>G	c.(1327-1329)ACA>ACG	p.T443T	ZNF800_uc003vlw.1_Silent_p.T346T|ZNF800_uc003vly.1_Silent_p.T443T|ZNF800_uc010lla.2_Silent_p.T443T	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	zinc finger protein 800	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GTGCTGCCGGTGTGTTCTTTT	0.408													C	127014061	T	C	127014061	2	2	16	1	0	0	0	0	0	0	0	1	18166	1683	59	3		3	ZNF800	7	127014061	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	9582457	127014061	32124602	565	12887											
LRRC4	64101	broad.mit.edu	37	chr7	127669841	127669841	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtacctcagcggggtaaagaGgtcatggggcaaagaagaga	16	6	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:127669841G>T	uc003vmk.2	-	2	990	c.853C>A	c.(853-855)CTC>ATC	p.L285I	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	285	LRR 9.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		GGGGTAAAGAGGTCATGGGGC	0.522													T	127669841	G	T	127669841	3	4	16	1	0	0	0	0	1	0	0	0	8997	1000	35	5	1112	5	LRRC4	7	127669841	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	655780	127669841	31468822	566	12888											
SND1	27044	broad.mit.edu	37	chr7	127732057	127732057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttacagctgaacctgtggCgctatggagactttcgagct	11	10	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:127732057C>T	uc003vmi.2	+	24	2906	c.2680C>T	c.(2680-2682)CGC>TGC	p.R894C	SND1_uc010lle.2_Missense_Mutation_p.R547C	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	894					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						GAACCTGTGGCGCTATGGAGA	0.572													T	127732057	C	T	127732057	3	4	16	1	0	0	0	0	1	0	0	0	14844	768	27	1	2774	1	SND1	7	127732057	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	62216	127732057	31406606	567	12889											
FLNC	2318	broad.mit.edu	37	chr7	128475506	128475506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggatgcccgcaaacagaCgcccaagcagcggctgcttg	13	13	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:128475506C>T	uc003vnz.3	+	2	688	c.479C>T	c.(478-480)ACG>ATG	p.T160M	FLNC_uc003voa.3_Missense_Mutation_p.T160M	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	160	CH 2.|Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CGCAAACAGACGCCCAAGCAG	0.597													T	128475506	C	T	128475506	3	4	16	1	0	0	0	0	1	0	0	0	5935	536	19	1	485	1	FLNC	7	128475506	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	743449	128475506	30663157	568	12890											
NRF1	4899	broad.mit.edu	37	chr7	129394908	129394908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactgtggtgaccagcctcGcccagggcaacggaccagtg	14	13	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:129394908G>A	uc003voz.2	+	11	1516	c.1399G>A	c.(1399-1401)GCC>ACC	p.A467T	NRF1_uc003vpa.2_Missense_Mutation_p.A486T|NRF1_uc011kpa.1_Missense_Mutation_p.A306T|NRF1_uc003vpb.2_Missense_Mutation_p.A467T	NM_005011	NP_005002	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	467	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						GACCAGCCTCGCCCAGGGCAA	0.612													A	129394908	G	A	129394908	3	1	16	1	0	0	0	0	1	0	0	0	10646	1087	38	1	1437	1	NRF1	7	129394908	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	919402	129394908	29743755	569	12891											
CPA5	93979	broad.mit.edu	37	chr7	129986353	129986353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacccctggaggcgggacGcgccctgggccatcccccgt	15	18	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:129986353G>A	uc010lmd.1	+	4	647	c.27G>A	c.(25-27)ACG>ACA	p.T9T	CPA5_uc003vps.2_Silent_p.T9T|CPA5_uc003vpt.2_Silent_p.T9T|CPA5_uc010lme.1_Silent_p.T9T|CPA5_uc003vpu.1_Silent_p.T9T	NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5 isoform 1	9					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2	Melanoma(18;0.0435)					GAGGCGGGACGCGCCCTGGGC	0.627													A	129986353	G	A	129986353	2	1	16	1	0	0	0	0	0	0	0	1	3793	1074	38	1		1	CPA5	7	129986353	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	591445	129986353	29152310	570	12892											
PLXNA4	91584	broad.mit.edu	37	chr7	131864546	131864546	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggacttgcgtttataggcAatgagcacggccacgatgaa	13	9	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:131864546A>G	uc003vra.3	-	20	4003	c.3774T>C	c.(3772-3774)ATT>ATC	p.I1258I		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1258	Helical; (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GTTTATAGGCAATGAGCACGG	0.607													G	131864546	A	G	131864546	2	3	16	1	0	0	0	0	0	0	0	1	12122	126	5	3		3	PLXNA4	7	131864546	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	1878193	131864546	27274117	571	12893											
WDR91	29062	broad.mit.edu	37	chr7	134871064	134871064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaccttctcatcgccacCcagctgcaagaggacaggaa	9	14	1	2	rs141164229		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:134871064C>T	uc003vsp.2	-	15	2145	c.2083G>A	c.(2083-2085)GGT>AGT	p.G695S	WDR91_uc010lmq.2_Missense_Mutation_p.G284S|WDR91_uc010lmr.2_RNA	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	WD repeat domain 91	695	WD 6.									breast(2)|ovary(1)|skin(1)	4						TCATCGCCACCCAGCTGCAAG	0.587													T	134871064	C	T	134871064	3	4	16	1	0	0	0	0	1	0	0	0	17335	623	22	4	164	4	WDR91	7	134871064	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3006518	134871064	24267599	572	12894											
NUP205	23165	broad.mit.edu	37	chr7	135277854	135277854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagatagtgtccagtacCgtcaccttccttcccgtggc	10	14	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:135277854C>T	uc003vsw.2	+	12	1775	c.1744C>T	c.(1744-1746)CGT>TGT	p.R582C		NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	582					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						TGTCCAGTACCGTCACCTTCC	0.483													T	135277854	C	T	135277854	3	4	16	1	0	0	0	0	1	0	0	0	10759	652	23	1	1790	1	NUP205	7	135277854	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	406790	135277854	23860809	573	12895											
NUP205	23165	broad.mit.edu	37	chr7	135301910	135301911	+	Frame_Shift_Ins	INS	-	-	T													cctgagcctttgcagttggaINStttttttgatcgggcccaga							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:135301910_135301911insT	uc003vsw.2	+	26	3636_3637	c.3605_3606insT	c.(3604-3606)GATfs	p.D1202fs	NUP205_uc003vsx.2_5'Flank	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1202					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						TTGCAGTTGGATTTTTTTGATC	0.371													T	135301911	-	T	135301910	7	5	16	1	0	1	1	0	0	0	0	0	10759	333	12	0	3707	0	NUP205	7	135301910	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	24056	135301910	23836753	574	12896	38	2									
NUP205	23165	broad.mit.edu	37	chr7	135301911	135301912	+	Frame_Shift_Ins	INS	-	-	T													ctgagcctttgcagttggatINSttttttgatcgggcccagat							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:135301910_135301911A>AT	uc003vsw.3	+	25	3636_3637	c.3605_3606A>AT	c.(3604-3606)gatfs	p.D1202fs		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1202					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTGCAGTTGGATTTTTTTGATC	0.371													T	135301912	-	T	135301911	7	5	16	1	0	1	1	0	0	0	0	0	10759	1490	52	0	3708	0	NUP205	7	135301911	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1	135301911	23836752	575	12897	38	2									
DGKI	9162	broad.mit.edu	37	chr7	137237203	137237203	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatccgaatcatagctggggCcaacctacagggctccccat	10	14	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:137237203C>A	uc003vtt.2	-	20	2060	c.2059G>T	c.(2059-2061)GCC>TCC	p.A687S	DGKI_uc003vtu.2_Missense_Mutation_p.A387S	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	687					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						ATAGCTGGGGCCAACCTACAG	0.517													A	137237203	C	A	137237203	3	1	16	1	0	0	0	0	1	0	0	0	4471	739	26	5	1198	5	DGKI	7	137237203	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1935292	137237203	21901460	576	12898											
KIAA1549	57670	broad.mit.edu	37	chr7	138554434	138554434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggaactcgtagtgcccgCggcgcttggcgcgcaggcgg	18	14	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:138554434C>T	uc011kql.1	-	14	4674	c.4625G>A	c.(4624-4626)CGC>CAC	p.R1542H	KIAA1549_uc011kqi.1_Missense_Mutation_p.R326H|KIAA1549_uc003vuk.3_Missense_Mutation_p.R1492H|KIAA1549_uc011kqj.1_Missense_Mutation_p.R1542H|KIAA1549_uc011kqk.1_Missense_Mutation_p.R326H	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1542						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						GTAGTGCCCGCGGCGCTTGGC	0.617			O	BRAF	pilocytic astrocytoma								T	138554434	C	T	138554434	3	4	16	1	0	0	0	0	1	0	0	0	8244	768	27	1	1255	1	KIAA1549	7	138554434	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1317231	138554434	20584229	577	12899											
KIAA1549	57670	broad.mit.edu	37	chr7	138602725	138602725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtggtcacgctggatggCgtcacttgggtttcagcaac	14	10	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:138602725C>T	uc011kql.1	-	2	1696	c.1647G>A	c.(1645-1647)ACG>ACA	p.T549T	KIAA1549_uc003vuk.3_Silent_p.T499T|KIAA1549_uc011kqj.1_Silent_p.T549T	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	549	Ser-rich.					integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						CGCTGGATGGCGTCACTTGGG	0.542			O	BRAF	pilocytic astrocytoma								T	138602725	C	T	138602725	2	4	16	1	0	0	0	0	0	0	0	1	8244	755	27	1		1	KIAA1549	7	138602725	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	48291	138602725	20535938	578	12900											
UBN2	254048	broad.mit.edu	37	chr7	138968777	138968777	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccccaaaacttgccgcatcTcccaagcctgccacatctcc	4	20	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:138968777T>C	uc011kqr.1	+	15	3126	c.3126T>C	c.(3124-3126)TCT>TCC	p.S1042S		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1042	Ser-rich.									ovary(1)|skin(1)	2						TTGCCGCATCTCCCAAGCCTG	0.527													C	138968777	T	C	138968777	2	2	16	1	0	0	0	0	0	0	0	1	16890	1538	54	3		3	UBN2	7	138968777	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	366052	138968777	20169886	579	12901											
MKRN1	23608	broad.mit.edu	37	chr7	140158906	140158906	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatacacacagttctccccGtatcggcactctcccactgc	6	17	2	1	rs1062761		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:140158906G>A	uc003vvt.2	-	4	897	c.672C>T	c.(670-672)TAC>TAT	p.Y224Y	MKRN1_uc003vvs.2_Silent_p.Y160Y|MKRN1_uc011krd.1_Intron|MKRN1_uc003vvv.3_Silent_p.Y224Y|MKRN1_uc003vvu.3_Silent_p.Y160Y	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1 isoform 1	224	C3H1-type 3.						ligase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.00956)					AGTTCTCCCCGTATCGGCACT	0.542													A	140158906	G	A	140158906	2	1	16	1	0	0	0	0	0	0	0	1	9606	1140	40	1		1	MKRN1	7	140158906	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1190129	140158906	18979757	580	12902											
DENND2A	27147	broad.mit.edu	37	chr7	140273680	140273680	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaatgtcatcagggctgctGggagtggagggagggctgat	18	5	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:140273680G>T	uc010lnj.2	-	4	1519	c.1374C>A	c.(1372-1374)CCC>CCA	p.P458P	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Silent_p.P458P|DENND2A_uc003vvw.2_Silent_p.P458P|DENND2A_uc003vvx.2_Silent_p.P458P	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	458										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					CAGGGCTGCTGGGAGTGGAGG	0.507													T	140273680	G	T	140273680	2	4	16	1	0	0	0	0	0	0	0	1	4429	1335	47	5		5	DENND2A	7	140273680	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	114774	140273680	18864983	581	12903											
CLCN1	1180	broad.mit.edu	37	chr7	143039045	143039045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcgctgactggtgccGtttcccacacagtctccaca	9	16	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:143039045G>A	uc003wcr.1	+	15	1693	c.1606G>A	c.(1606-1608)GTT>ATT	p.V536I	CLCN1_uc011ktc.1_Missense_Mutation_p.V148I	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	536					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)					GACTGGTGCCGTTTCCCACAC	0.517													A	143039045	G	A	143039045	3	1	16	1	0	0	0	0	1	0	0	0	3462	1145	40	1	1664	1	CLCN1	7	143039045	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2765365	143039045	16099618	582	12904											
CNTNAP2	26047	broad.mit.edu	37	chr7	147914604	147914604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacttcttggcagtcctcGtcaaacccactggtaaggac	9	13	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:147914604G>A	uc003weu.1	+	19	3751	c.3235G>A	c.(3235-3237)GTC>ATC	p.V1079I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	1079	Laminin G-like 4.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGCAGTCCTCGTCAAACCCAC	0.507										HNSCC(39;0.1)			A	147914604	G	A	147914604	3	1	16	1	0	0	0	0	1	0	0	0	3647	1145	40	1	3309	1	CNTNAP2	7	147914604	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	4875559	147914604	11224059	583	12905											
ZNF282	8427	broad.mit.edu	37	chr7	148921287	148921287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaagccctactcgtgccccGagtgcggcaagagcttcggc	13	15	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:148921287G>A	uc003wfm.2	+	8	1669	c.1564G>A	c.(1564-1566)GAG>AAG	p.E522K	ZNF282_uc011kun.1_Intron|ZNF282_uc003wfo.2_Silent_p.P198P	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	522	C2H2-type 1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTCGTGCCCCGAGTGCGGCAA	0.582													A	148921287	G	A	148921287	3	1	16	1	0	0	0	0	1	0	0	0	17816	1059	37	1	1594	1	ZNF282	7	148921287	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1006683	148921287	10217376	584	12906											
ZNF212	7988	broad.mit.edu	37	chr7	148947336	148947336	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcctattttcagaccacCgagatttcactctggacggt	8	12	3	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:148947336C>T	uc003wfp.2	+	2	207	c.111C>T	c.(109-111)ACC>ACT	p.T37T		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			TTCAGACCACCGAGATTTCAC	0.537													T	148947336	C	T	148947336	2	4	16	1	0	0	0	0	0	0	0	1	17765	639	23	1		1	ZNF212	7	148947336	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	26049	148947336	10191327	585	12907											
ZNF212	7988	broad.mit.edu	37	chr7	148951367	148951367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcaccagcgcatccacaCgggtgagcggccctacagct	13	16	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:148951367C>T	uc003wfp.2	+	5	1445	c.1349C>T	c.(1348-1350)ACG>ATG	p.T450M		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CGCATCCACACGGGTGAGCGG	0.597													T	148951367	C	T	148951367	3	4	16	1	0	0	0	0	1	0	0	0	17765	536	19	1	1367	1	ZNF212	7	148951367	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	4031	148951367	10187296	586	12908											
KRBA1	84626	broad.mit.edu	37	chr7	149420936	149420936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccctcaggagtggggaaccGacggctacaggagaatccag	14	11	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:149420936G>A	uc003wfz.2	+	8	1283	c.884G>A	c.(883-885)CGA>CAA	p.R295Q	KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_5'UTR	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	KRAB A domain containing 1	295										ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGGGGAACCGACGGCTACAG	0.622													A	149420936	G	A	149420936	3	1	16	1	0	0	0	0	1	0	0	0	8439	1058	37	1	910	1	KRBA1	7	149420936	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	469569	149420936	9717727	587	12909											
SSPO	23145	broad.mit.edu	37	chr7	149501110	149501110	+	Frame_Shift_Del	DEL	G	G	-													ctccaaccctccggcagcctGggggggtgccccgtgtgaag							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:149501110delG	uc010lpk.2	+	57	8246	c.8246delG	c.(8245-8247)TGGfs	p.W2749fs		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2749	TSP type-1 6.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCGGCAGCCTGGGGGGGTGCC	0.667													-	149501110	G	-	149501110	7	5	16	1	0	1	0	1	0	0	0	0	15188	1357	47	0	8464	0	SSPO	7	149501110	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	80174	149501110	9637553	588	12910											
SSPO	23145	broad.mit.edu	37	chr7	149522374	149522374	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcgtcaggttagagctgCgaggcccaagacactgtatt	13	9	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:149522374C>T	uc010lpk.2	+	101	14001	c.14001C>T	c.(13999-14001)TGC>TGT	p.C4667C	SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_RNA|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_RNA	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	4667	TIL 6.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTTAGAGCTGCGAGGCCCAAG	0.627													T	149522374	C	T	149522374	2	4	16	1	0	0	0	0	0	0	0	1	15188	760	27	1		1	SSPO	7	149522374	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	21264	149522374	9616289	589	12911											
CHPF2	54480	broad.mit.edu	37	chr7	150934480	150934480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagatccggaacctgacCgtgctgacccccgaagggga	13	14	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:150934480C>T	uc003wjr.1	+	4	2545	c.1032C>T	c.(1030-1032)ACC>ACT	p.T344T	CHPF2_uc003wjq.1_Silent_p.T336T|MIR671_hsa-mir-671|MI0003760_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	344	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1						GGAACCTGACCGTGCTGACCC	0.567													T	150934480	C	T	150934480	2	4	16	1	0	0	0	0	0	0	0	1	3369	639	23	1		1	CHPF2	7	150934480	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1412106	150934480	8204183	590	12912											
CRYGN	155051	broad.mit.edu	37	chr7	151135154	151135154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagtcggggtagtcgccGtgctccaagatgaactgctg	14	9	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:151135154G>A	uc003wke.2	-	2	294	c.198C>T	c.(196-198)CAC>CAT	p.H66H	CRYGN_uc003wkf.2_Silent_p.H66H|CRYGN_uc003wkg.2_RNA|CRYGN_uc010lqd.1_5'Flank	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	gammaN-crystallin	66	Beta/gamma crystallin 'Greek key' 2.										0			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTAGTCGCCGTGCTCCAAGA	0.612													A	151135154	G	A	151135154	2	1	16	1	0	0	0	0	0	0	0	1	3918	1136	40	1		1	CRYGN	7	151135154	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	200674	151135154	8003509	591	12913											
GALNT11	63917	broad.mit.edu	37	chr7	151818747	151818747	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcctcttcacagcagtgGcatttggaaggttaaggtgg	14	8	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:151818747G>A	uc010lqg.1	+	12	2042	c.1812G>A	c.(1810-1812)TGG>TGA	p.W604*	GALNT11_uc011kvm.1_Nonsense_Mutation_p.W523*|GALNT11_uc003wku.2_Nonsense_Mutation_p.W604*	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	604	Lumenal (Potential).|Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CACAGCAGTGGCATTTGGAAG	0.582													A	151818747	G	A	151818747	4	1	16	1	0	0	0	0	0	1	0	0	6209	1212	42	2	1854	2	GALNT11	7	151818747	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	683593	151818747	7319916	592	12914											
MLL3	58508	broad.mit.edu	37	chr7	151878070	151878071	+	Frame_Shift_Ins	INS	-	-	G													gggatcacgggcagcagatgINSgggaaacacggctaaatgtg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr7:151878069_151878070T>TG	uc003wla.3	-	35	7094_7095	c.6875_6876A>CA	c.(6874-6876)ccafs	p.P2292fs	MLL3_uc003wkz.3_Frame_Shift_Ins_p.P1353fs|MLL3_uc003wky.3_5'Flank	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2292					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGGCAGCAGATGGGGAAACACG	0.52			N		medulloblastoma								G	151878071	-	G	151878070	7	5	16	1	0	1	1	0	0	0	0	0	9622	1348	47	0	7956	0	MLL3	7	151878070	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	59323	151878070	7260593	593	12915											
ZNF596	169270	broad.mit.edu	37	chr8	192901	192901	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttaggattccatgaccttCgaggatatcattgtagactt	8	7	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:192901C>T	uc003wot.2	+	3	315	c.27C>T	c.(25-27)TTC>TTT	p.F9F	ZNF596_uc003wou.2_5'UTR|ZNF596_uc003wov.2_Silent_p.F9F|ZNF596_uc003wow.2_Silent_p.F9F	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	9	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		CCATGACCTTCGAGGATATCA	0.438													T	192901	C	T	192901	2	4	16	1	0	0	0	0	0	0	0	1	18023	883	31	1		1	ZNF596	8	192901	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08		192901	146171121	594	12916											
FBXO25	26260	broad.mit.edu	37	chr8	400034	400034	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttaacttcattgagtggCgtggcacagaagaattactt	10	7	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:400034C>T	uc003wox.2	+	6	692	c.426C>T	c.(424-426)GGC>GGT	p.G142G	FBXO25_uc003woy.2_Silent_p.G142G|FBXO25_uc003woz.2_Silent_p.G75G|FBXO25_uc003wpa.2_5'UTR	NM_183421	NP_904357	Q8TCJ0	FBX25_HUMAN	F-box only protein 25 isoform 1	142						nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			lung(1)	1		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		CATTGAGTGGCGTGGCACAGA	0.318													T	400034	C	T	400034	2	4	16	1	0	0	0	0	0	0	0	1	5736	755	27	1		1	FBXO25	8	400034	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	207133	400034	145963988	595	12917											
CSMD1	64478	broad.mit.edu	37	chr8	2857580	2857580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggattgcactggtaaaccacCgtgtctctgtaactgaagcc	10	11	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:2857580C>T	uc011kwk.1	-	53	8496	c.8106G>A	c.(8104-8106)ACG>ACA	p.T2702T	CSMD1_uc011kwj.1_Silent_p.T2031T|CSMD1_uc010lrg.2_Silent_p.T712T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2702	Extracellular (Potential).|Sushi 18.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGTAAACCACCGTGTCTCTGT	0.493													T	2857580	C	T	2857580	2	4	16	1	0	0	0	0	0	0	0	1	3944	639	23	1		1	CSMD1	8	2857580	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2457546	2857580	143506442	596	12918											
SGK223	157285	broad.mit.edu	37	chr8	8176553	8176553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcgtacgcctcgggctccGcctggtggctggccgccgag	16	16	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:8176553G>A	uc003wsh.3	-	5	3332	c.3332C>T	c.(3331-3333)GCG>GTG	p.A1111V		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	1111	Protein kinase.		A -> T.				ATP binding|non-membrane spanning protein tyrosine kinase activity				0						CTCGGGCTCCGCCTGGTGGCT	0.682													A	8176553	G	A	8176553	3	1	16	1	0	0	0	0	1	0	0	0	14210	1087	38	1	880	1	SGK223	8	8176553	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	5318973	8176553	138187469	597	12919											
SGK223	157285	broad.mit.edu	37	chr8	8233918	8233918	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggtggagacggtgccaggtCgtggagtttgaatggtccgt	19	6	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:8233918C>T	uc003wsh.3	-	2	2001	c.2001G>A	c.(1999-2001)ACG>ACA	p.T667T		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	667							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GGTGCCAGGTCGTGGAGTTTG	0.562													T	8233918	C	T	8233918	2	4	16	1	0	0	0	0	0	0	0	1	14210	871	31	1		1	SGK223	8	8233918	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	57365	8233918	138130104	598	12920											
MFHAS1	9258	broad.mit.edu	37	chr8	8747883	8747883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctggacactgtagcgtgCaaacaacccaagtggaaaag	11	9	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:8747883C>T	uc003wsj.1	-	1	3249	c.2686G>A	c.(2686-2688)GCA>ACA	p.A896T		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	896											0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CTGTAGCGTGCAAACAACCCA	0.458													T	8747883	C	T	8747883	3	4	16	1	0	0	0	0	1	0	0	0	9521	710	25	2	484	2	MFHAS1	8	8747883	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	513965	8747883	137616139	599	12921											
XKR6	286046	broad.mit.edu	37	chr8	11058385	11058385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagacgtagtcccccttgCggtagtagtcgagggccagc	14	11	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:11058385C>T	uc003wtk.1	-	1	491	c.464G>A	c.(463-465)CGC>CAC	p.R155H		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	155						integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GTCCCCCTTGCGGTAGTAGTC	0.652													T	11058385	C	T	11058385	3	4	16	1	0	0	0	0	1	0	0	0	17432	768	27	1	1473	1	XKR6	8	11058385	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2310502	11058385	135305637	600	12922											
MTMR9	66036	broad.mit.edu	37	chr8	11157593	11157593	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttaccgtcctatgtttgAagtgatagaagatggctggc	11	7	0	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:11157593A>G	uc003wtm.2	+	3	751	c.353A>G	c.(352-354)GAA>GGA	p.E118G	MTMR9_uc010lrx.2_Missense_Mutation_p.E11G|MTMR9_uc011kxa.1_Missense_Mutation_p.E33G	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	118						cytoplasm	phosphatase activity|protein binding				0			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CCTATGTTTGAAGTGATAGAA	0.403													G	11157593	A	G	11157593	3	3	16	1	0	0	0	0	1	0	0	0	9950	246	9	3	363	3	MTMR9	8	11157593	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	99208	11157593	135206429	601	12923											
MTMR9	66036	broad.mit.edu	37	chr8	11172485	11172485	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaactgattccacactccAggtgacctccttggcccaga	9	14	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:11172485A>G	uc003wtm.2	+	7	1423	c.1025A>G	c.(1024-1026)CAG>CGG	p.Q342R	MTMR9_uc010lrx.2_Missense_Mutation_p.Q235R|MTMR9_uc011kxa.1_Missense_Mutation_p.Q257R	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	342	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding				0			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		TCCACACTCCAGGTGACCTCC	0.478													G	11172485	A	G	11172485	3	3	16	1	0	0	0	0	1	0	0	0	9950	188	7	3	1051	3	MTMR9	8	11172485	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	14892	11172485	135191537	602	12924											
FAM167A	83648	broad.mit.edu	37	chr8	11301555	11301555	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccagttccttcctgagCcaggctatagcttcatcgat	7	14	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:11301555C>T	uc010lry.1	-	2	986	c.366G>A	c.(364-366)TGG>TGA	p.W122*	FAM167A_uc003wtw.2_Nonsense_Mutation_p.W122*	NM_053279	NP_444509	Q96KS9	F167A_HUMAN	hypothetical protein LOC83648	122	Potential.										0						CCTTCCTGAGCCAGGCTATAG	0.488													T	11301555	C	T	11301555	4	4	16	1	0	0	0	0	0	1	0	0	5483	740	26	2	286	2	FAM167A	8	11301555	Nonsense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	129070	11301555	135062467	603	12925											
GATA4	2626	broad.mit.edu	37	chr8	11615981	11615981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggggacataatcactgcGtaatcttccctcttccctcc	6	16	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:11615981G>A	uc003wuc.2	+	7	1880	c.1326G>A	c.(1324-1326)GCG>GCA	p.A442A	GATA4_uc003wub.1_Silent_p.A236A|GATA4_uc011kxc.1_Silent_p.A443A|uc003wud.1_5'Flank	NM_002052	NP_002043	P43694	GATA4_HUMAN	GATA binding protein 4	442					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		TAATCACTGCGTAATCTTCCC	0.602													A	11615981	G	A	11615981	2	1	16	1	0	0	0	0	0	0	0	1	6256	1132	40	1		1	GATA4	8	11615981	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	314426	11615981	134748041	604	12926											
MTUS1	57509	broad.mit.edu	37	chr8	17513479	17513480	+	Frame_Shift_Ins	INS	-	-	T													agccgattctctcgttctgtINStttttcagcctggtgctgct							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:17513478_17513479G>GT	uc003wxv.3	-	8	3475_3476	c.3001_3002C>AC	c.(3001-3003)acafs	p.T1001fs	MTUS1_uc003wxt.3_Frame_Shift_Ins_p.T248fs|MTUS1_uc011kyg.2_Frame_Shift_Ins_p.T146fs|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Frame_Shift_Ins_p.T947fs|MTUS1_uc003wxs.3_Frame_Shift_Ins_p.T167fs	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	1001						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CTCTCGTTCTGTTTTTTCAGCC	0.416													T	17513480	-	T	17513479	7	5	16	1	0	1	1	0	0	0	0	0	9965	1725	60	0	839	0	MTUS1	8	17513479	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	5897498	17513479	128850543	605	12927											
HR	55806	broad.mit.edu	37	chr8	21985180	21985180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcaaggattctgctgccGgccagctcccatctctccat	10	16	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:21985180G>A	uc003xas.2	-	3	1440	c.775C>T	c.(775-777)CGG>TGG	p.R259W	HR_uc003xat.2_Missense_Mutation_p.R259W	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	259							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TTCTGCTGCCGGCCAGCTCCC	0.627													A	21985180	G	A	21985180	3	1	16	1	0	0	0	0	1	0	0	0	7347	1115	39	1	2862	1	HR	8	21985180	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	4471701	21985180	124378842	606	12928											
NKX3-1	4824	broad.mit.edu	37	chr8	23538896	23538896	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctccgaggagagctgcttTcgcttagtcttatagcgtct	11	10	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:23538896T>C	uc011kzx.1	-	2	591	c.543A>G	c.(541-543)CGA>CGG	p.R181R	NKX3-1_uc003xdv.1_Intron	NM_006167	NP_006158	Q99801	NKX31_HUMAN	NK3 homeobox 1	181	Homeobox.				negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding				0		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		AGAGCTGCTTTCGCTTAGTCT	0.582													C	23538896	T	C	23538896	2	2	16	1	0	0	0	0	0	0	0	1	10455	1770	62	3		3	NKX3-1	8	23538896	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	1553716	23538896	122825126	607	12929											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24256965	24256965	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaattccttgtgttcccCatcttcggttgctgttattg	7	10	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:24256965C>A	uc003xdz.2	+	10	1209	c.989C>A	c.(988-990)CCA>CAA	p.P330Q	ADAMDEC1_uc010lub.2_Missense_Mutation_p.P251Q|ADAMDEC1_uc011lab.1_Missense_Mutation_p.P251Q	NM_014479	NP_055294	O15204	ADEC1_HUMAN	ADAM-like, decysin 1 isoform 1	330	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)	2		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTGTGTTCCCCATCTTCGGTT	0.333													A	24256965	C	A	24256965	3	1	16	1	0	0	0	0	1	0	0	0	254	594	21	5	1027	5	ADAMDEC1	8	24256965	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	718069	24256965	122107057	608	12930											
NEFM	4741	broad.mit.edu	37	chr8	24771893	24771893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggaggaggcgcggttgcGcgacgacactgaggcggcca	19	10	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:24771893G>A	uc003xed.3	+	1	620	c.587G>A	c.(586-588)CGC>CAC	p.R196H	NEFM_uc011lac.1_Missense_Mutation_p.R196H|NEFM_uc010lue.2_5'Flank|uc010luc.1_Missense_Mutation_p.R59C	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	196	Rod.|Coil 1B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCGCGGTTGCGCGACGACACT	0.632													A	24771893	G	A	24771893	3	1	16	1	0	0	0	0	1	0	0	0	10316	1087	38	1	589	1	NEFM	8	24771893	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	514928	24771893	121592129	609	12931											
DOCK5	80005	broad.mit.edu	37	chr8	25246735	25246735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggggaagacatcaagtcGtcccccaagcagtgtatcct	10	13	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:25246735G>A	uc003xeg.2	+	41	4397	c.4260G>A	c.(4258-4260)TCG>TCA	p.S1420S	PPP2R2A_uc003xek.2_Silent_p.S209S|DOCK5_uc003xei.2_Silent_p.S990S|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1420	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ACATCAAGTCGTCCCCCAAGC	0.567													A	25246735	G	A	25246735	2	1	16	1	0	0	0	0	0	0	0	1	4690	1132	40	1		1	DOCK5	8	25246735	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	474842	25246735	121117287	610	12932											
PNMA2	10687	broad.mit.edu	37	chr8	26365705	26365705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccactctttgactatctcCgtggcctgttccaaccagac	8	15	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:26365705C>T	uc003xez.2	-	3	1337	c.567G>A	c.(565-567)ACG>ACA	p.T189T		NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN	paraneoplastic antigen MA2	189					apoptosis	nucleolus	protein binding				0		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		tgactatctccgtggcctgtt	0													T	26365705	C	T	26365705	2	4	16	1	0	0	0	0	0	0	0	1	12154	639	23	1		1	PNMA2	8	26365705	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1118970	26365705	119998317	611	12933											
PTK2B	2185	broad.mit.edu	37	chr8	27297938	27297938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaccggccccgcttcacCgagctggtgtgcagcctcag	13	15	2	1	rs149334019		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:27297938C>T	uc003xfn.1	+	26	2827	c.2019C>T	c.(2017-2019)ACC>ACT	p.T673T	PTK2B_uc003xfo.1_Silent_p.T673T|PTK2B_uc003xfp.1_Silent_p.T673T|PTK2B_uc003xfq.1_Silent_p.T673T|PTK2B_uc003xfr.1_Silent_p.T419T	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	673	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CCCGCTTCACCGAGCTGGTGT	0.647													T	27297938	C	T	27297938	2	4	16	1	0	0	0	0	0	0	0	1	12763	639	23	1		1	PTK2B	8	27297938	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	932233	27297938	119066084	612	12934											
CCDC25	55246	broad.mit.edu	37	chr8	27606032	27606032	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccttctgcctgtgaaagcCtatctgccccacatccatgt	6	15	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:27606032C>A	uc003xgc.2	-	6	441	c.328G>T	c.(328-330)GGC>TGC	p.G110C	CCDC25_uc003xgd.2_Missense_Mutation_p.G42C|CCDC25_uc011lan.1_Intron|CCDC25_uc011lao.1_Intron|CCDC25_uc003xge.2_Intron|CCDC25_uc003xgf.1_RNA	NM_018246	NP_060716	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	110											0		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		CTGTGAAAGCCTATCTGCCCC	0.473													A	27606032	C	A	27606032	3	1	16	1	0	0	0	0	1	0	0	0	2800	681	24	5	314	5	CCDC25	8	27606032	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	308094	27606032	118757990	613	12935											
EXTL3	2137	broad.mit.edu	37	chr8	28574843	28574843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagagcgggaggaccgcttgGaattgctgaagctctccacc	14	11	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:28574843G>A	uc003xgz.1	+	3	1860	c.1267G>A	c.(1267-1269)GAA>AAA	p.E423K		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	423	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GGACCGCTTGGAATTGCTGAA	0.587													A	28574843	G	A	28574843	3	1	16	1	0	0	0	0	1	0	0	0	5327	1175	41	4	1269	4	EXTL3	8	28574843	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	968811	28574843	117789179	614	12936											
DUSP4	1846	broad.mit.edu	37	chr8	29195944	29195944	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagccgtgatgcccagggcGtccagcatgtctctccgggc	14	14	1	2	rs111661543	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:29195944G>A	uc003xhm.2	-	3	1044	c.654C>T	c.(652-654)GAC>GAT	p.D218D	DUSP4_uc003xhl.2_Silent_p.D127D	NM_001394	NP_001385	Q13115	DUS4_HUMAN	dual specificity phosphatase 4 isoform 1	218	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			lung(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		TGCCCAGGGCGTCCAGCATGT	0.562													A	29195944	G	A	29195944	2	1	16	1	0	0	0	0	0	0	0	1	4827	1136	40	1		1	DUSP4	8	29195944	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	621101	29195944	117168078	615	12937											
WRN	7486	broad.mit.edu	37	chr8	30999110	30999110	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaagatttgcgcccttacGaaaaaggtaaacggtgtagg	12	6	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:30999110G>A	uc003xio.3	+	25	3920	c.3132G>A	c.(3130-3132)ACG>ACA	p.T1044T	WRN_uc010lvk.2_Silent_p.T511T	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	1044					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GCGCCCTTACGAAAAAGGTAA	0.403			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				A	30999110	G	A	30999110	2	1	16	1	0	0	0	0	0	0	0	1	17399	1045	37	1		1	WRN	8	30999110	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1803166	30999110	115364912	616	12938											
FUT10	84750	broad.mit.edu	37	chr8	33246853	33246853	+	Frame_Shift_Del	DEL	A	A	-													tcatcacaaactgcattctcAaaagctaggataaacttata							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:33246852_33246852CA>C	uc011lbi.2	-	3	1157	c.991_991TG>G	c.(991-993)gagfs	p.E331fs	FUT10_uc003xjc.3_Frame_Shift_Del_p.E288fs|FUT10_uc003xjd.3_Frame_Shift_Del_p.E253fs|FUT10_uc003xje.3_Frame_Shift_Del_p.E281fs|FUT10_uc003xjf.3_Frame_Shift_Del_p.E219fs|FUT10_uc003xjg.3_Frame_Shift_Del_p.E253fs|FUT10_uc003xjh.3_Frame_Shift_Del_p.E281fs			Q6P4F1	FUT10_HUMAN	Homo sapiens fucosyltransferase 10 (alpha (1,3) fucosyltransferase) (FUT10), mRNA.	281					L-fucose catabolic process|embryo development|fertilization|hemopoiesis|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		ACTGCATTCTCAAAAGCTAGG	0.458													-	33246853	A	-	33246853	7	5	16	1	0	1	0	1	0	0	0	0	6102	127	5	0	607	0	FUT10	8	33246853	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	2247743	33246853	113117169	617	12939											
GPR124	25960	broad.mit.edu	37	chr8	37689008	37689008	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcaccgtgtccatggccCaaggcaacgccagcaagaag	12	13	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:37689008C>T	uc003xkj.2	+	8	1363	c.1000C>T	c.(1000-1002)CAA>TAA	p.Q334*	GPR124_uc010lvy.2_Nonsense_Mutation_p.Q334*	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	334	Extracellular (Potential).|Ig-like.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTCCATGGCCCAAGGCAACGC	0.647													T	37689008	C	T	37689008	4	4	16	1	0	0	0	0	0	1	0	0	6638	595	21	4	1009	4	GPR124	8	37689008	Nonsense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	4442155	37689008	108675014	618	12940											
BRF2	55290	broad.mit.edu	37	chr8	37702376	37702376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtgctggagaaggtcacCgatgtgcttcaccacagacc	13	12	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:37702376C>T	uc003xkk.2	-	4	1002	c.892G>A	c.(892-894)GGT>AGT	p.G298S		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	RNA polymerase III transcription initiation	298					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding				0		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			AGAAGGTCACCGATGTGCTTC	0.622													T	37702376	C	T	37702376	3	4	16	1	0	0	0	0	1	0	0	0	1511	652	23	1	371	1	BRF2	8	37702376	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	13368	37702376	108661646	619	12941											
BAG4	9530	broad.mit.edu	37	chr8	38066655	38066655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgcttatggaatgggtgGccgttatccctggccttcat	13	9	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:38066655G>A	uc003xky.1	+	4	1040	c.758G>A	c.(757-759)GGC>GAC	p.G253D	BAG4_uc003xkz.1_Missense_Mutation_p.G217D	NM_004874	NP_004865	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	253					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			ovary(1)	1	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				GGAATGGGTGGCCGTTATCCC	0.532													A	38066655	G	A	38066655	3	1	16	1	0	0	0	0	1	0	0	0	1289	1203	42	2	772	2	BAG4	8	38066655	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	364279	38066655	108297367	620	12942											
HTRA4	203100	broad.mit.edu	37	chr8	38835575	38835575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcagaacacagctactgCaggaattgtcagcaccaaac	8	12	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:38835575C>T	uc003xmj.2	+	4	990	c.875C>T	c.(874-876)GCA>GTA	p.A292V		NM_153692	NP_710159	P83105	HTRA4_HUMAN	HtrA serine peptidase 4 precursor	292	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			ACAGCTACTGCAGGAATTGTC	0.493													T	38835575	C	T	38835575	3	4	16	1	0	0	0	0	1	0	0	0	7456	710	25	2	889	2	HTRA4	8	38835575	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	768920	38835575	107528447	621	12943											
IKBKB	3551	broad.mit.edu	37	chr8	42176093	42176093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagcccaagaggaatctcGccttcttccagctgaggaag	11	11	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:42176093G>A	uc003xow.1	+	13	1441	c.1264G>A	c.(1264-1266)GCC>ACC	p.A422T	IKBKB_uc010lxh.1_Missense_Mutation_p.A317T|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.A199T|IKBKB_uc003xox.1_Missense_Mutation_p.A143T|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.A420T|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.A363T	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	422					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GAGGAATCTCGCCTTCTTCCA	0.522													A	42176093	G	A	42176093	3	1	16	1	0	0	0	0	1	0	0	0	7611	1087	38	1	1310	1	IKBKB	8	42176093	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	3340518	42176093	104187929	622	12944											
HOOK3	84376	broad.mit.edu	37	chr8	42828458	42828458	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactacaaaacagattatcCgaagaatcaaagaaagcaga	7	7	1	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:42828458C>T	uc003xpr.2	+	12	1391	c.1149C>T	c.(1147-1149)TCC>TCT	p.S383S	HOOK3_uc010lxq.1_Silent_p.S383S	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	383	Potential.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			ACAGATTATCCGAAGAATCAA	0.294			T	RET	papillary thyroid								T	42828458	C	T	42828458	2	4	16	1	0	0	0	0	0	0	0	1	7284	639	23	1		1	HOOK3	8	42828458	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	652365	42828458	103535564	623	12945											
MCM4	4173	broad.mit.edu	37	chr8	48887498	48887498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatccccggactggcatcGtggacatatctattcttact	8	12	2	1	rs140026188		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:48887498G>A	uc003xqk.1	+	15	2436	c.2341G>A	c.(2341-2343)GTG>ATG	p.V781M	MCM4_uc003xql.1_Missense_Mutation_p.V781M|MCM4_uc011ldi.1_Missense_Mutation_p.V768M	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	781					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GACTGGCATCGTGGACATATC	0.403													A	48887498	G	A	48887498	3	1	16	1	0	0	0	0	1	0	0	0	9389	1145	40	1	2395	1	MCM4	8	48887498	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	6059040	48887498	97476524	624	12946											
PXDNL	137902	broad.mit.edu	37	chr8	52321164	52321164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgatgtgctgcagctccGcgcccacgatcttcctggct	12	14	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:52321164G>A	uc003xqu.3	-	17	3121	c.3020C>T	c.(3019-3021)GCG>GTG	p.A1007V	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1007					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGCAGCTCCGCGCCCACGAT	0.622													A	52321164	G	A	52321164	3	1	16	1	0	0	0	0	1	0	0	0	12848	1087	38	1	1399	1	PXDNL	8	52321164	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	3433666	52321164	94042858	625	12947											
ST18	9705	broad.mit.edu	37	chr8	53055565	53055565	+	Frame_Shift_Del	DEL	T	T	-													tagaggcctctccaggaaacTttttttcctctaaattttct							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:53055564_53055564CT>C	uc003xqz.2	-	11	2250	c.2094_2094AG>G	c.(2092-2094)aagfs	p.K698fs	ST18_uc011ldq.1_Frame_Shift_Del_p.K345fs|ST18_uc011ldr.1_Frame_Shift_Del_p.K663fs|ST18_uc011lds.1_Frame_Shift_Del_p.K603fs|ST18_uc003xra.2_Frame_Shift_Del_p.K698fs	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	698						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTCCAGGAAACTTTTTTTCCT	0.428													-	53055565	T	-	53055565	7	5	16	1	0	1	0	1	0	0	0	0	15211	1609	56	0	1090	0	ST18	8	53055565	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	734401	53055565	93308457	626	12948											
SOX17	64321	broad.mit.edu	37	chr8	55370898	55370898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagccaagggcgagtcccGtatccggcggccgatgaacg	15	14	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:55370898G>A	uc003xsb.3	+	1	404	c.200G>A	c.(199-201)CGT>CAT	p.R67H		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	67					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GGCGAGTCCCGTATCCGGCGG	0.682													A	55370898	G	A	55370898	3	1	16	1	0	0	0	0	1	0	0	0	14947	1145	40	1	202	1	SOX17	8	55370898	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2315333	55370898	90993124	627	12949											
XKR4	114786	broad.mit.edu	37	chr8	56015724	56015724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaagagcaacatcgccGcggccaacagcggcagcaac	11	16	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:56015724G>A	uc003xsf.2	+	1	708	c.676G>A	c.(676-678)GCG>ACG	p.A226T		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	226						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAACATCGCCGCGGCCAACAG	0.652													A	56015724	G	A	56015724	3	1	16	1	0	0	0	0	1	0	0	0	17430	1087	38	1	678	1	XKR4	8	56015724	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	644826	56015724	90348298	628	12950											
PDE7A	5150	broad.mit.edu	37	chr8	66639133	66639133	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctttctaatggcagatgtgaGaataagcctgattctctcaa	8	8	3	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:66639133G>T	uc003xvq.2	-	9	909	c.897C>A	c.(895-897)TTC>TTA	p.F299L	PDE7A_uc003xvr.2_Missense_Mutation_p.F299L|PDE7A_uc003xvp.2_Missense_Mutation_p.F273L	NM_002604	NP_002595	Q13946	PDE7A_HUMAN	phosphodiesterase 7A isoform b	299	Catalytic (By similarity).					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding				0			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	GCAGATGTGAGAATAAGCCTG	0.348													T	66639133	G	T	66639133	3	4	16	1	0	0	0	0	1	0	0	0	11651	933	33	5	603	5	PDE7A	8	66639133	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	10623409	66639133	79724889	629	12951											
ADHFE1	137872	broad.mit.edu	37	chr8	67361171	67361171	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccctccacatgcctgccCgagtggtcgccaacagtggc	10	17	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:67361171C>T	uc003xwb.3	+	8	734	c.700C>T	c.(700-702)CGA>TGA	p.R234*	ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Nonsense_Mutation_p.R186*|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_RNA|ADHFE1_uc011les.1_Nonsense_Mutation_p.R164*|ADHFE1_uc011leq.1_RNA|ADHFE1_uc011ler.1_RNA	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	234					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CATGCCTGCCCGAGTGGTCGC	0.498													T	67361171	C	T	67361171	4	4	16	1	0	0	0	0	0	1	0	0	314	644	23	1	730	1	ADHFE1	8	67361171	Nonsense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	722038	67361171	79002851	630	12952											
C8orf46	254778	broad.mit.edu	37	chr8	67405939	67405939	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catagaagttttcaccaccgTgattccttccaagggtgagt	9	10	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:67405939T>C	uc003xwg.2	+	1	449	c.56T>C	c.(55-57)GTG>GCG	p.V19A	C8orf46_uc003xwh.2_RNA|C8orf46_uc011let.1_Missense_Mutation_p.V19A	NM_152765	NP_689978	Q8TAG6	CH046_HUMAN	hypothetical protein LOC254778	19										skin(2)	2			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TTCACCACCGTGATTCCTTCC	0.507													C	67405939	T	C	67405939	3	2	16	1	0	0	0	0	1	0	0	0	2431	1696	59	3	58	3	C8orf46	8	67405939	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	44768	67405939	78958083	631	12953											
C8orf45	157777	broad.mit.edu	37	chr8	67803139	67803139	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccttgtcccccgtggtatAcgtcatctagtctctactga	7	13	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:67803139A>G	uc003xwz.3	+	10	1284	c.1113A>G	c.(1111-1113)ATA>ATG	p.I371M	C8orf45_uc011lev.1_Missense_Mutation_p.I371M|C8orf45_uc011lew.1_Missense_Mutation_p.I302M|C8orf45_uc011lex.1_Missense_Mutation_p.I129M|C8orf45_uc003xwy.3_Missense_Mutation_p.I371M	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	minichromosome maintenance complex	371					DNA replication		ATP binding|DNA binding			ovary(1)	1	Breast(64;0.186)		Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CCCGTGGTATACGTCATCTAG	0.363													G	67803139	A	G	67803139	3	3	16	1	0	0	0	0	1	0	0	0	2430	381	14	3	1147	3	C8orf45	8	67803139	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	397200	67803139	78560883	632	12954											
CSPP1	79848	broad.mit.edu	37	chr8	67998286	67998286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttggagaagactatgaaCggaagaaacataaattaaaa	8	5	0	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:67998286C>T	uc003xxi.2	+	4	383	c.352C>T	c.(352-354)CGG>TGG	p.R118W	CSPP1_uc003xxg.1_Missense_Mutation_p.R118W|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.R118W|CSPP1_uc003xxk.2_Translation_Start_Site	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	118	Potential.					centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGACTATGAACGGAAGAAACA	0.303													T	67998286	C	T	67998286	3	4	16	1	0	0	0	0	1	0	0	0	3962	527	19	1	366	1	CSPP1	8	67998286	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	195147	67998286	78365736	633	12955											
PREX2	80243	broad.mit.edu	37	chr8	68989660	68989660	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaccagagaagaggcaaTgatatttggcgttggactct	12	9	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:68989660T>A	uc003xxv.1	+	15	1625	c.1598T>A	c.(1597-1599)ATG>AAG	p.M533K	PREX2_uc003xxu.1_Missense_Mutation_p.M533K|PREX2_uc011lez.1_Missense_Mutation_p.M468K	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	533	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GAAGAGGCAATGATATTTGGC	0.438													A	68989660	T	A	68989660	3	1	16	1	0	0	0	0	1	0	0	0	12477	1464	51	5	1656	5	PREX2	8	68989660	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	991374	68989660	77374362	634	12956											
PREX2	80243	broad.mit.edu	37	chr8	69046300	69046300	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctttgatcacagatagtgAgacacagctccgtagagaca	9	10	2	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:69046300A>G	uc003xxv.1	+	32	3800	c.3773A>G	c.(3772-3774)GAG>GGG	p.E1258G		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1258					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						ACAGATAGTGAGACACAGCTC	0.458													G	69046300	A	G	69046300	3	3	16	1	0	0	0	0	1	0	0	0	12477	304	11	3	4128	3	PREX2	8	69046300	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	56640	69046300	77317722	635	12957											
PREX2	80243	broad.mit.edu	37	chr8	69046345	69046345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgccagactcttgtggCcactgtctgtgccttctctg	9	13	4	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:69046345C>T	uc003xxv.1	+	32	3845	c.3818C>T	c.(3817-3819)GCC>GTC	p.A1273V		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1273					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						ACTCTTGTGGCCACTGTCTGT	0.483													T	69046345	C	T	69046345	3	4	16	1	0	0	0	0	1	0	0	0	12477	739	26	2	4173	2	PREX2	8	69046345	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	45	69046345	77317677	636	12958											
C8orf34	116328	broad.mit.edu	37	chr8	69351816	69351816	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagtctaaacaagggaAccgtggacaacttcaaagaa	8	9	4	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:69351816A>G	uc010lyz.2	+	2	201	c.152A>G	c.(151-153)AAC>AGC	p.N51S	C8orf34_uc010lyx.1_Missense_Mutation_p.N51S|C8orf34_uc010lyy.1_Missense_Mutation_p.N51S|C8orf34_uc003xyb.2_Missense_Mutation_p.N26S	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	51					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AAACAAGGGAACCGTGGACAA	0.408													G	69351816	A	G	69351816	3	3	16	1	0	0	0	0	1	0	0	0	2422	43	2	3	79	3	C8orf34	8	69351816	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	305471	69351816	77012206	637	12959											
SULF1	23213	broad.mit.edu	37	chr8	70501233	70501233	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacagacttaatcactaaCgagagcattaattacttcaa	4	9	3	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:70501233C>T	uc010lza.1	+	8	1308	c.591C>T	c.(589-591)AAC>AAT	p.N197N	SULF1_uc003xyd.2_Silent_p.N197N|SULF1_uc003xye.2_Silent_p.N197N|SULF1_uc003xyf.2_Silent_p.N197N|SULF1_uc003xyg.2_Silent_p.N197N	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	197					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TAATCACTAACGAGAGCATTA	0.423													T	70501233	C	T	70501233	2	4	16	1	0	0	0	0	0	0	0	1	15369	535	19	1		1	SULF1	8	70501233	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1149417	70501233	75862789	638	12960											
SULF1	23213	broad.mit.edu	37	chr8	70517125	70517125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacgggtcaaagaactatgCcagcaggccaggtaccagac	12	11	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:70517125C>T	uc010lza.1	+	13	2052	c.1335C>T	c.(1333-1335)TGC>TGT	p.C445C	SULF1_uc003xyd.2_Silent_p.C445C|SULF1_uc003xye.2_Silent_p.C445C|SULF1_uc003xyf.2_Silent_p.C445C|SULF1_uc003xyg.2_Silent_p.C445C|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	445					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AAGAACTATGCCAGCAGGCCA	0.458													T	70517125	C	T	70517125	2	4	16	1	0	0	0	0	0	0	0	1	15369	747	26	2		2	SULF1	8	70517125	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	15892	70517125	75846897	639	12961											
SULF1	23213	broad.mit.edu	37	chr8	70536319	70536319	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgctaagcgtcatgatgaAggccacaaggggccaagaga	13	8	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:70536319A>G	uc010lza.1	+	15	2454	c.1737A>G	c.(1735-1737)GAA>GAG	p.E579E	SULF1_uc003xyd.2_Silent_p.E579E|SULF1_uc003xye.2_Silent_p.E579E|SULF1_uc003xyf.2_Silent_p.E579E|SULF1_uc003xyg.2_Silent_p.E579E|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	579					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GTCATGATGAAGGCCACAAGG	0.502													G	70536319	A	G	70536319	2	3	16	1	0	0	0	0	0	0	0	1	15369	69	3	3		3	SULF1	8	70536319	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	19194	70536319	75827703	640	12962											
EYA1	2138	broad.mit.edu	37	chr8	72229848	72229848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactgaagcttgtgccataGctgagaaatcctgtctgtcc	10	10	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:72229848G>A	uc003xys.3	-	6	782	c.495C>T	c.(493-495)AGC>AGT	p.S165S	EYA1_uc003xyr.3_Silent_p.S160S|EYA1_uc003xyt.3_Silent_p.S132S|EYA1_uc010lzf.2_Silent_p.S92S|EYA1_uc003xyu.2_Silent_p.S165S|EYA1_uc011lfe.1_Silent_p.S159S|EYA1_uc003xyv.2_Silent_p.S43S	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	165					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTGTGCCATAGCTGAGAAATC	0.463													A	72229848	G	A	72229848	2	1	16	1	0	0	0	0	0	0	0	1	5328	962	34	2		2	EYA1	8	72229848	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1693529	72229848	74134174	641	12963											
STAU2	27067	broad.mit.edu	37	chr8	74464497	74464497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagagattactttgtggCggctggcttccatctcttga	11	10	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:74464497C>T	uc003xzm.2	-	13	1516	c.1280G>A	c.(1279-1281)CGC>CAC	p.R427H	STAU2_uc011lfg.1_Missense_Mutation_p.R255H|STAU2_uc003xzn.2_Missense_Mutation_p.R395H|STAU2_uc011lfh.1_Missense_Mutation_p.R323H|STAU2_uc003xzo.2_Missense_Mutation_p.R427H|STAU2_uc003xzp.2_Missense_Mutation_p.R395H|STAU2_uc011lfi.1_Missense_Mutation_p.R389H|STAU2_uc003xzq.2_Missense_Mutation_p.R207H|STAU2_uc010lzk.2_Missense_Mutation_p.R395H|STAU2_uc010lzl.1_Missense_Mutation_p.R255H	NM_014393	NP_055208	Q9NUL3	STAU2_HUMAN	staufen homolog 2 isoform e	427	Required for dendritic transport (By similarity).				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding				0	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TACTTTGTGGCGGCTGGCTTC	0.373													T	74464497	C	T	74464497	3	4	16	1	0	0	0	0	1	0	0	0	15272	768	27	1	568	1	STAU2	8	74464497	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2234649	74464497	71899525	642	12964											
STAU2	27067	broad.mit.edu	37	chr8	74507471	74507472	+	Frame_Shift_Ins	INS	-	-	T													cagcattgcttctgcagcatINStttttttggctatcttttta							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:74507470_74507471A>AT	uc003xzm.3	-	10	1432_1433	c.1091_1092T>AT	c.(1090-1092)aatfs	p.N364fs	STAU2_uc011lfh.2_Frame_Shift_Ins_p.N260fs|STAU2_uc003xzn.3_Frame_Shift_Ins_p.N332fs|STAU2_uc011lfg.2_Frame_Shift_Ins_p.N192fs|STAU2_uc003xzo.3_Frame_Shift_Ins_p.N364fs|STAU2_uc003xzq.3_Frame_Shift_Ins_p.N144fs|STAU2_uc003xzp.3_Frame_Shift_Ins_p.N332fs|STAU2_uc011lfi.2_Frame_Shift_Ins_p.N326fs|STAU2_uc010lzk.3_Frame_Shift_Ins_p.N332fs|STAU2_uc010lzl.1_Frame_Shift_Ins_p.N192fs	NM_001164380	NP_001157855	Q9NUL3	STAU2_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA.	364	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	p.N332fs*67(1)|p.G364V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			CTTCTGCAGCATTTTTTTTGGC	0.327													T	74507472	-	T	74507471	7	5	16	1	0	1	1	0	0	0	0	0	15272	1493	52	0	765	0	STAU2	8	74507471	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	42974	74507471	71856551	643	12965											
GDAP1	54332	broad.mit.edu	37	chr8	75263642	75263642	+	Frame_Shift_Del	DEL	A	A	-													gcctgtccttatccacggggAaaacataatttgtgaggcca							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:75263641_75263641GA>G	uc003yah.3	+	1	329	c.250_250GA>G	c.(250-252)gaafs	p.E84fs	GDAP1_uc011lfj.2_Intron|GDAP1_uc003yai.3_Frame_Shift_Del_p.E16fs	NM_018972	NP_001035808	Q8TB36	GDAP1_HUMAN	Homo sapiens ganglioside-induced differentiation-associated protein 1 (GDAP1), transcript variant 1, mRNA.	84	GST N-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TATCCACGGGGAAAACATAAT	0.433													-	75263642	A	-	75263642	7	5	16	1	0	1	0	1	0	0	0	0	6307	246	9	0	257	0	GDAP1	8	75263642	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	756171	75263642	71100380	644	12966											
ZNF704	619279	broad.mit.edu	37	chr8	81555314	81555314	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaggacaggaccgtgtgCgcatgctgtctctgctctcc	15	12	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:81555314C>T	uc003yby.1	-	8	1315	c.1083G>A	c.(1081-1083)GCG>GCA	p.A361A		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	361						intracellular	zinc ion binding				0	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			GGACCGTGTGCGCATGCTGTC	0.522													T	81555314	C	T	81555314	2	4	16	1	0	0	0	0	0	0	0	1	18104	755	27	1		1	ZNF704	8	81555314	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	6291672	81555314	64808708	645	12967											
ATP6V0D2	245972	broad.mit.edu	37	chr8	87111213	87111213	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaatctcttcccccatgctCgaaggtgcggagctgtactt	9	13	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:87111213C>T	uc003ydp.1	+	1	75	c.6C>T	c.(4-6)CTC>CTT	p.L2L		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0	2					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding				0						CCCCCATGCTCGAAGGTGCGG	0.552													T	87111213	C	T	87111213	2	4	16	1	0	0	0	0	0	0	0	1	1174	871	31	1		1	ATP6V0D2	8	87111213	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	5555899	87111213	59252809	646	12968											
RIPK2	8767	broad.mit.edu	37	chr8	90796355	90796355	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacatacctgtaaatcaTggtccacaagaggtaaaaaa	7	8	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:90796355T>C	uc003yee.2	+	8	1331	c.1017T>C	c.(1015-1017)CAT>CAC	p.H339H	RIPK2_uc003yef.2_Silent_p.H202H	NM_003821	NP_003812	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	339					activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.0474)			CTGTAAATCATGGTCCACAAG	0.239													C	90796355	T	C	90796355	2	2	16	1	0	0	0	0	0	0	0	1	13381	1461	51	3		3	RIPK2	8	90796355	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	3685142	90796355	55567667	647	12969											
SLC26A7	115111	broad.mit.edu	37	chr8	92406218	92406218	+	Frame_Shift_Del	DEL	T	T	-													cctagactcagagaaaccaaTtttttttgaatcggtatctg					rs149495064		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:92406217_92406217AT>A	uc003yez.3	+	17	2124	c.1885_1885AT>A	c.(1885-1887)attfs	p.I629fs	SLC26A7_uc003yex.3_Frame_Shift_Del_p.I629fs|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Frame_Shift_Del_p.I629fs	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	629	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGAGAAACCAATTTTTTTTGA	0.338													-	92406218	T	-	92406218	7	5	16	1	0	1	0	1	0	0	0	0	14522	1493	52	0	1952	0	SLC26A7	8	92406218	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	1609863	92406218	53957804	648	12970											
RUNX1T1	862	broad.mit.edu	37	chr8	93088227	93088227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttcccttttttccggcaGtcacctattactaaactcag	5	12	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:93088227G>A	uc003yfd.2	-	1	138	c.54C>T	c.(52-54)GAC>GAT	p.D18D	RUNX1T1_uc003yfe.1_Intron|RUNX1T1_uc010mao.2_5'UTR|RUNX1T1_uc011lgi.1_Intron|RUNX1T1_uc003yfh.1_Intron	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	18					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)			TTTTCCGGCAGTCACCTATTA	0.363													A	93088227	G	A	93088227	2	1	16	1	0	0	0	0	0	0	0	1	13747	1020	36	4		4	RUNX1T1	8	93088227	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	682009	93088227	53275795	649	12971											
KIAA1429	25962	broad.mit.edu	37	chr8	95501084	95501084	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggtcccgaggacttgggcgGtaacctgtaaaagaaagaat	13	8	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:95501084G>T	uc003ygo.1	-	24	5302	c.5289C>A	c.(5287-5289)TAC>TAA	p.Y1763*	KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	1763					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GACTTGGGCGGTAACCTGTAA	0.453													T	95501084	G	T	95501084	4	4	16	1	0	0	0	0	0	1	0	0	8231	1256	44	5	153	5	KIAA1429	8	95501084	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2412857	95501084	50862938	650	12972											
KIAA1429	25962	broad.mit.edu	37	chr8	95538496	95538496	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccctctctggaggtccagtaAttcgtgccatcgttgggaaa	11	11	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:95538496A>T	uc003ygo.1	-	8	1989	c.1976T>A	c.(1975-1977)ATT>AAT	p.I659N	KIAA1429_uc003ygp.2_Missense_Mutation_p.I659N|KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	659					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AGGTCCAGTAATTCGTGCCAT	0.393													T	95538496	A	T	95538496	3	4	16	1	0	0	0	0	1	0	0	0	8231	101	4	5	3584	5	KIAA1429	8	95538496	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	37412	95538496	50825526	651	12973											
ESRP1	54845	broad.mit.edu	37	chr8	95683842	95683843	+	Frame_Shift_Ins	INS	-	-	G													aggacatcctggatttcctgINSggggagttcgccacagatat							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:95683841_95683842T>TG	uc003ygq.4	+	10	1577_1578	c.1394_1395T>TG	c.(1393-1395)ctgfs	p.L465fs	ESRP1_uc003ygr.4_Frame_Shift_Ins_p.L465fs|ESRP1_uc003ygs.4_Frame_Shift_Ins_p.L465fs|ESRP1_uc003ygt.4_Frame_Shift_Ins_p.L465fs|ESRP1_uc003ygu.4_Frame_Shift_Ins_p.L465fs|ESRP1_uc003ygv.3_Frame_Shift_Ins_p.L305fs|ESRP1_uc003ygw.3_Frame_Shift_Ins_p.L305fs	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	465	RRM 3.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CTGGATTTCCTGGGGGAGTTCG	0.446													G	95683843	-	G	95683842	7	5	16	1	0	1	1	0	0	0	0	0	5258	1335	47	0	1437	0	ESRP1	8	95683842	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	145346	95683842	50680180	652	12974											
UQCRB	7381	broad.mit.edu	37	chr8	97243341	97243341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaataacctctttcagatacGgttcaaggtagaaattttcc	7	8	3	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:97243341G>A	uc003yhq.3	-	4	382	c.278C>T	c.(277-279)CCG>CTG	p.P93L	UQCRB_uc011lgt.1_RNA|UQCRB_uc010mbc.2_RNA	NM_006294	NP_006285	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding	93					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial respiratory chain	ubiquinol-cytochrome-c reductase activity			ovary(1)	1	Breast(36;5.16e-05)					TTTCAGATACGGTTCAAGGTA	0.353													A	97243341	G	A	97243341	3	1	16	1	0	0	0	0	1	0	0	0	17015	1116	39	1	61	1	UQCRB	8	97243341	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1559499	97243341	49120681	653	12975											
DCAF13	25879	broad.mit.edu	37	chr8	104427572	104427572	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctccgcgagtcacgtgacTggaagtagtctgggaaaagc	14	10	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:104427572T>C	uc003yln.2	+	1	631	c.354T>C	c.(352-354)ACT>ACC	p.T118T	SLC25A32_uc003yll.2_5'Flank|SLC25A32_uc011lhr.1_5'Flank|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	Error:Variant_position_missing_in_Q9NV06_after_alignment					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						GTCACGTGACTGGAAGTAGTC	0.637													C	104427572	T	C	104427572	2	2	16	1	0	0	0	0	0	0	0	1	4266	1567	55	3		3	DCAF13	8	104427572	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	7184231	104427572	41936450	654	12976											
RIMS2	9699	broad.mit.edu	37	chr8	104897787	104897787	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaaagcagagatgaataCgaaaggcaaaggagagagga	16	3	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:104897787C>T	uc003yls.2	+	2	535	c.294C>T	c.(292-294)TAC>TAT	p.Y98Y	RIMS2_uc003ylp.2_Silent_p.Y320Y|RIMS2_uc003ylw.2_Silent_p.Y128Y|RIMS2_uc003ylq.2_Silent_p.Y128Y|RIMS2_uc003ylr.2_Silent_p.Y128Y	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	351					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAGATGAATACGAAAGGCAAA	0.428										HNSCC(12;0.0054)			T	104897787	C	T	104897787	2	4	16	1	0	0	0	0	0	0	0	1	13368	547	19	1		1	RIMS2	8	104897787	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	470215	104897787	41466235	655	12977											
RIMS2	9699	broad.mit.edu	37	chr8	104922390	104922390	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gattacaactggttggatcaTacgtcttggcatagcagtga	11	7	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:104922390T>G	uc003yls.2	+	3	1228	c.987T>G	c.(985-987)CAT>CAG	p.H329Q	RIMS2_uc003ylp.2_Missense_Mutation_p.H551Q|RIMS2_uc003ylw.2_Missense_Mutation_p.H359Q|RIMS2_uc003ylq.2_Missense_Mutation_p.H359Q|RIMS2_uc003ylr.2_Intron|RIMS2_uc003ylt.2_5'Flank	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGTTGGATCATACGTCTTGGC	0.393										HNSCC(12;0.0054)			G	104922390	T	G	104922390	3	3	16	1	0	0	0	0	1	0	0	0	13368	1403	49	5	1797	5	RIMS2	8	104922390	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	24603	104922390	41441632	656	12978											
RIMS2	9699	broad.mit.edu	37	chr8	104927779	104927779	+	Frame_Shift_Del	DEL	A	A	-													tgtgcatttattactaaagtAaaaaaaggaagtttagctga							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:104927778_104927778TA>T	uc003yls.3	+	4	1443	c.1202_1202TA>T	c.(1201-1203)gtafs	p.V401fs	RIMS2_uc003ylp.3_Frame_Shift_Del_p.V623fs|RIMS2_uc003ylw.2_Frame_Shift_Del_p.V431fs|RIMS2_uc003ylq.3_Frame_Shift_Del_p.V431fs|RIMS2_uc003ylr.3_Frame_Shift_Del_p.V478fs|RIMS2_uc003ylt.3_Frame_Shift_Del_p.V24fs|RIMS2_uc003ylu.1_Frame_Shift_Del_p.V14fs|RIMS2_uc003ylv.1_Frame_Shift_Del_p.V14fs	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	701					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATTACTAAAGTAAAAAAAGGA	0.323										HNSCC(12;0.0054)			-	104927779	A	-	104927779	7	5	16	1	0	1	0	1	0	0	0	0	13368	349	13	0	2021	0	RIMS2	8	104927779	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	5389	104927779	41436243	657	12979											
OXR1	55074	broad.mit.edu	37	chr8	107691480	107691480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agacaagaaagatggaagacGaatgtcttttcagaaaccta	9	6	2	5			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:107691480G>A	uc011lht.1	+	3	365	c.266G>A	c.(265-267)CGA>CAA	p.R89Q	OXR1_uc003ymf.2_Missense_Mutation_p.R88Q|OXR1_uc011lhu.1_Missense_Mutation_p.R81Q|OXR1_uc010mcg.2_Intron|OXR1_uc003ymg.1_Missense_Mutation_p.R21Q|OXR1_uc003ymi.1_5'UTR	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	89					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GATGGAAGACGAATGTCTTTT	0.338													A	107691480	G	A	107691480	3	1	16	1	0	0	0	0	1	0	0	0	11334	1058	37	1	476	1	OXR1	8	107691480	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2763701	107691480	38672542	658	12980											
CSMD3	114788	broad.mit.edu	37	chr8	113301668	113301668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgactggcctaaaagggaaCgctttcctgtgcaggaatag	12	8	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:113301668C>T	uc003ynu.2	-	57	9233	c.9074G>A	c.(9073-9075)CGT>CAT	p.R3025H	CSMD3_uc003yns.2_Missense_Mutation_p.R2227H|CSMD3_uc003ynt.2_Missense_Mutation_p.R2985H|CSMD3_uc011lhx.1_Missense_Mutation_p.R2856H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3025	Sushi 21.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TAAAAGGGAACGCTTTCCTGT	0.468										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113301668	C	T	113301668	3	4	16	1	0	0	0	0	1	0	0	0	3946	536	19	1	2109	1	CSMD3	8	113301668	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	5610188	113301668	33062354	659	12981											
CSMD3	114788	broad.mit.edu	37	chr8	113308134	113308134	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactgaagaaccaatcaatcGaaaaccaggattacattgat	6	9	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:113308134G>A	uc003ynu.2	-	54	8701	c.8542C>T	c.(8542-8544)CGA>TGA	p.R2848*	CSMD3_uc003yns.2_Nonsense_Mutation_p.R2050*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.R2808*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.R2679*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2848	Extracellular (Potential).|Sushi 18.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCAATCAATCGAAAACCAGGA	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113308134	G	A	113308134	4	1	16	1	0	0	0	0	0	1	0	0	3946	1066	37	1	2653	1	CSMD3	8	113308134	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	6466	113308134	33055888	660	12982											
CSMD3	114788	broad.mit.edu	37	chr8	113314034	113314034	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atctgtacctaggcatctggTttcagattcactccaaagac	7	11	4	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:113314034T>A	uc003ynu.2	-	53	8587	c.8428A>T	c.(8428-8430)ACC>TCC	p.T2810S	CSMD3_uc003yns.2_Missense_Mutation_p.T2012S|CSMD3_uc003ynt.2_Missense_Mutation_p.T2770S|CSMD3_uc011lhx.1_Missense_Mutation_p.T2641S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2810	Extracellular (Potential).|Sushi 17.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AGGCATCTGGTTTCAGATTCA	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113314034	T	A	113314034	3	1	16	1	0	0	0	0	1	0	0	0	3946	1725	60	5	2771	5	CSMD3	8	113314034	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	5900	113314034	33049988	661	12983											
CSMD3	114788	broad.mit.edu	37	chr8	113702263	113702263	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtaccaggatcaccacaActttctttctcaatttctgg	7	11	4	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:113702263A>C	uc003ynu.2	-	14	2148	c.1989T>G	c.(1987-1989)AGT>AGG	p.S663R	CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Missense_Mutation_p.S623R|CSMD3_uc011lhx.1_Missense_Mutation_p.S559R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	663	Extracellular (Potential).|Sushi 3.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GATCACCACAACTTTCTTTCT	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113702263	A	C	113702263	3	2	16	1	0	0	0	0	1	0	0	0	3946	40	2	5	9366	5	CSMD3	8	113702263	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	388229	113702263	32661759	662	12984											
TRPS1	7227	broad.mit.edu	37	chr8	116617110	116617110	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaaaatgttgttctaaTtcggtggatgagttgcccat	11	5	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:116617110T>C	uc003ynz.2	-	3	1506	c.1047A>G	c.(1045-1047)GAA>GAG	p.E349E	TRPS1_uc011lhy.1_Silent_p.E353E|TRPS1_uc003yny.2_Silent_p.E362E|TRPS1_uc010mcy.2_Silent_p.E349E	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	349	C2H2-type 2; atypical.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GTTGTTCTAATTCGGTGGATG	0.413									Langer-Giedion_syndrome				C	116617110	T	C	116617110	2	2	16	1	0	0	0	0	0	0	0	1	16590	1490	52	3		3	TRPS1	8	116617110	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	2914847	116617110	29746912	663	12985											
RAD21	5885	broad.mit.edu	37	chr8	117866524	117866524	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acaaaggctgagcaggtaaaGaaaacagtttttctactcct	8	8	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:117866524G>A	uc003yod.2	-	9	1409	c.1121C>T	c.(1120-1122)TCT>TTT	p.S374F		NM_006265	NP_006256	O60216	RAD21_HUMAN	RAD21 homolog	374	Interaction with WAPAL and PDS5B.|Interaction with STAG1.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			lung(1)|skin(1)	2	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					AGCAGGTAAAGAAAACAGTTT	0.348													A	117866524	G	A	117866524	3	1	16	1	0	0	0	0	1	0	0	0	12981	942	33	4	798	4	RAD21	8	117866524	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1249414	117866524	28497498	664	12986											
C8orf85	441376	broad.mit.edu	37	chr8	117950593	117950593	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtcccgcgtgcgacttcttCggggacggcaggagcacgga	16	13	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:117950593C>T	uc003yof.2	+	1	130	c.111C>T	c.(109-111)TTC>TTT	p.F37F		NM_001025357	NP_001020528	Q4LEZ3	AARD_HUMAN	alanine and arginine-rich domain-containing	37											0						GCGACTTCTTCGGGGACGGCA	0.687													T	117950593	C	T	117950593	2	4	16	1	0	0	0	0	0	0	0	1	2441	883	31	1		1	C8orf85	8	117950593	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	84069	117950593	28413429	665	12987											
ENPP2	5168	broad.mit.edu	37	chr8	120583061	120583061	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgataaagcactgcaggtcGcccatagaggaggtgtctct	12	11	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:120583061G>A	uc003yot.1	-	20	1887	c.1801C>T	c.(1801-1803)CGA>TGA	p.R601*	ENPP2_uc011lic.1_Nonsense_Mutation_p.R139*|ENPP2_uc003yor.1_Nonsense_Mutation_p.R236*|ENPP2_uc003yos.1_Nonsense_Mutation_p.R653*|ENPP2_uc010mdd.1_Nonsense_Mutation_p.R626*	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	autotaxin isoform 2 preproprotein	601					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACTGCAGGTCGCCCATAGAGG	0.338													A	120583061	G	A	120583061	4	1	16	1	0	0	0	0	0	1	0	0	5130	1095	38	1	814	1	ENPP2	8	120583061	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2632468	120583061	25780961	666	12988											
TAF2	6873	broad.mit.edu	37	chr8	120754889	120754889	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagctagctggccgatatttCgagagccctaaaatgccaaa	10	10	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:120754889C>T	uc003you.2	-	25	3492	c.3222G>A	c.(3220-3222)TCG>TCA	p.S1074S		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	1074					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GCCGATATTTCGAGAGCCCTA	0.438													T	120754889	C	T	120754889	2	4	16	1	0	0	0	0	0	0	0	1	15521	871	31	1		1	TAF2	8	120754889	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	171828	120754889	25609133	667	12989											
DSCC1	79075	broad.mit.edu	37	chr8	120865444	120865444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgctcgtctttatcaccaCgaatcacaagactgtagcaa	6	12	3	1	rs143137070		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:120865444C>T	uc003yov.2	-	2	329	c.194G>A	c.(193-195)CGT>CAT	p.R65H		NM_024094	NP_076999	Q9BVC3	DCC1_HUMAN	defective in sister chromatid cohesion 1	65					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			pancreas(1)	1	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTTATCACCACGAATCACAAG	0.393													T	120865444	C	T	120865444	3	4	16	1	0	0	0	0	1	0	0	0	4770	536	19	1	1019	1	DSCC1	8	120865444	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	110555	120865444	25498578	668	12990											
ATAD2	29028	broad.mit.edu	37	chr8	124335285	124335285	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttgtagttttgacttttttTaacaacagtcttcaaaagat	6	5	2	2	rs147415119		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:124335285T>A	uc003yqh.3	-	27	4132	c.4024A>T	c.(4024-4026)AAA>TAA	p.K1342*	ATAD2_uc011lii.1_Nonsense_Mutation_p.K1133*|ATAD2_uc003yqi.3_RNA	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGACTTTTTTTAACAACAGTC	0.328													A	124335285	T	A	124335285	4	1	16	1	0	0	0	0	0	1	0	0	1071	1763	61	5	156	5	ATAD2	8	124335285	Nonsense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	3469841	124335285	22028737	669	12991											
ANXA13	312	broad.mit.edu	37	chr8	124707927	124707927	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaatgaaaagtcacttaCgcctttggtaggcctcttta	8	10	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:124707927C>T	uc003yqu.2	-	5	464	c.391_splice	c.e5+1	p.L131_splice	ANXA13_uc003yqt.2_Splice_Site_p.L172_splice	NM_004306	NP_004297	P27216	ANX13_HUMAN	annexin A13 isoform a						cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGTCACTTACGCCTTTGGTA	0.363													T	124707927	C	T	124707927	5	4	16	1	0	0	0	0	0	0	1	0	717	550	19	1	586	1	ANXA13	8	124707927	Splice_Site	SNP	C	TCGA-BR-4292-01A-01D-1126-08	372642	124707927	21656095	670	12992											
FER1L6	654463	broad.mit.edu	37	chr8	125131185	125131185	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agagcccctggccaagcccaAgtgagtggagttgctagtgg	15	10	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:125131185A>T	uc003yqw.2	+	40	5596	c.5390A>T	c.(5389-5391)AAC>ATC	p.N1797I	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1797	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCCAAGCCCAAGTGAGTGGAG	0.517													T	125131185	A	T	125131185	3	4	16	1	0	0	0	0	1	0	0	0	5815	86	3	5	5544	5	FER1L6	8	125131185	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	423258	125131185	21232837	671	12993											
KIAA0196	9897	broad.mit.edu	37	chr8	126079934	126079934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatctggtccttgatttgaCgaaggcgtttgttgtttggg	14	5	1	2	rs151298198	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:126079934C>T	uc003yrt.2	-	10	1507	c.1178G>A	c.(1177-1179)CGT>CAT	p.R393H	KIAA0196_uc011lir.1_Missense_Mutation_p.R245H|KIAA0196_uc003yru.1_5'UTR	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	393					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTTGATTTGACGAAGGCGTTT	0.373													T	126079934	C	T	126079934	3	4	16	1	0	0	0	0	1	0	0	0	8161	536	19	1	2381	1	KIAA0196	8	126079934	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	948749	126079934	20284088	672	12994											
ADCY8	114	broad.mit.edu	37	chr8	131797706	131797706	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttcaatgtcttgaaatcGgtcttcaccaagcaactgaa	6	10	4	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:131797706G>A	uc003ytd.3	-	16	3332	c.3076C>T	c.(3076-3078)CGA>TGA	p.R1026*	ADCY8_uc010mds.2_Nonsense_Mutation_p.R895*	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	1026	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCTTGAAATCGGTCTTCACCA	0.502										HNSCC(32;0.087)			A	131797706	G	A	131797706	4	1	16	1	0	0	0	0	0	1	0	0	300	1124	39	1	691	1	ADCY8	8	131797706	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	5717772	131797706	14566316	673	12995											
ADCY8	114	broad.mit.edu	37	chr8	131848567	131848567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacgcagaaagaggcctgcGtagacggtctcagtgagcag	14	9	1	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:131848567G>A	uc003ytd.3	-	12	2887	c.2631C>T	c.(2629-2631)TAC>TAT	p.Y877Y	ADCY8_uc010mds.2_Silent_p.Y746Y	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	877	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGAGGCCTGCGTAGACGGTCT	0.542										HNSCC(32;0.087)			A	131848567	G	A	131848567	2	1	16	1	0	0	0	0	0	0	0	1	300	1140	40	1		1	ADCY8	8	131848567	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	50861	131848567	14515455	674	12996											
EFR3A	23167	broad.mit.edu	37	chr8	133008660	133008660	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aattttattttagatgaagaTcgactttctagaagaaaaag	7	3	1	5			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:133008660T>G	uc003yte.2	+	19	2274	c.2073T>G	c.(2071-2073)GAT>GAG	p.D691E		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A	691						plasma membrane	binding			ovary(3)|breast(1)|central_nervous_system(1)	5	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TAGATGAAGATCGACTTTCTA	0.308													G	133008660	T	G	133008660	3	3	16	1	0	0	0	0	1	0	0	0	4958	1432	50	5	2147	5	EFR3A	8	133008660	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	1160093	133008660	13355362	675	12997											
TG	7038	broad.mit.edu	37	chr8	133894824	133894824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgcagagacggttcctcGcagttcaatcagtcatctct	8	12	4	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:133894824G>A	uc003ytw.2	+	7	897	c.856G>A	c.(856-858)GCA>ACA	p.A286T		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	286	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACGGTTCCTCGCAGTTCAATC	0.473													A	133894824	G	A	133894824	3	1	16	1	0	0	0	0	1	0	0	0	15810	1087	38	1	882	1	TG	8	133894824	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	886164	133894824	12469198	676	12998											
WISP1	8840	broad.mit.edu	37	chr8	134237661	134237661	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaggtggaggcatggcaCaggaactgcatagcctacac	15	9	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:134237661C>T	uc003yub.2	+	4	715	c.639C>T	c.(637-639)CAC>CAT	p.H213H	WISP1_uc003yuc.2_Silent_p.H126H|WISP1_uc010meb.2_Silent_p.H41H|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	213					cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AGGCATGGCACAGGAACTGCA	0.592													T	134237661	C	T	134237661	2	4	16	1	0	0	0	0	0	0	0	1	17369	477	17	4		4	WISP1	8	134237661	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	342837	134237661	12126361	677	12999											
COL22A1	169044	broad.mit.edu	37	chr8	139820047	139820047	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccatggggccagcaactccCatttcaccctaaaagaagaa	7	14	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:139820047C>A	uc003yvd.2	-	10	1905	c.1458G>T	c.(1456-1458)ATG>ATT	p.M486I		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	486	Collagen-like 1.|Pro-rich.|Gly-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGCAACTCCCATTTCACCCT	0.448										HNSCC(7;0.00092)			A	139820047	C	A	139820047	3	1	16	1	0	0	0	0	1	0	0	0	3681	594	21	5	3646	5	COL22A1	8	139820047	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	5582386	139820047	6543975	678	13000											
COL22A1	169044	broad.mit.edu	37	chr8	139890011	139890011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttcacaaagacggcgccGcagcttgccccggatcttgt	10	14	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:139890011G>A	uc003yvd.2	-	3	1087	c.640C>T	c.(640-642)CGG>TGG	p.R214W		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	214					cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGACGGCGCCGCAGCTTGCCC	0.652										HNSCC(7;0.00092)			A	139890011	G	A	139890011	3	1	16	1	0	0	0	0	1	0	0	0	3681	1086	38	1	4492	1	COL22A1	8	139890011	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	69964	139890011	6474011	679	13001											
EIF2C2	27161	broad.mit.edu	37	chr8	141554345	141554346	+	Frame_Shift_Ins	INS	-	-	G													gcttcttcccatccccggcgINSggggggtgagtgacgtctgc					rs148575703	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:141554344_141554345C>CG	uc003yvn.3	-	13	1847_1848	c.1806_1807G>CG	c.(1804-1809)cccgccfs	p.P602fs	EIF2C2_uc010meo.3_Frame_Shift_Ins_p.P602fs|EIF2C2_uc010men.3_Frame_Shift_Ins_p.P525fs	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	602	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			CCATCCCCGGCGGGGGGGTGAG	0.644													G	141554346	-	G	141554345	7	5	16	1	0	1	1	0	0	0	0	0	5006	1103	39	0	797	0	EIF2C2	8	141554345	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1664334	141554345	4809677	680	13002											
PTK2	5747	broad.mit.edu	37	chr8	141753359	141753359	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtactatcttccatatatcGggataatccaaagtctccta	5	10	2	0	rs139298046		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:141753359G>A	uc003yvu.2	-	20	1935	c.1705C>T	c.(1705-1707)CGA>TGA	p.R569*	PTK2_uc003yvo.2_Nonsense_Mutation_p.R197*|PTK2_uc011ljq.1_Nonsense_Mutation_p.R264*|PTK2_uc003yvp.2_Nonsense_Mutation_p.R237*|PTK2_uc003yvq.2_Nonsense_Mutation_p.R95*|PTK2_uc003yvr.2_Nonsense_Mutation_p.R509*|PTK2_uc003yvs.2_Nonsense_Mutation_p.R569*|PTK2_uc003yvt.2_Nonsense_Mutation_p.R591*|PTK2_uc003yvv.2_Nonsense_Mutation_p.R469*|PTK2_uc011ljr.1_Nonsense_Mutation_p.R569*	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	569	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TCCATATATCGGGATAATCCA	0.348													A	141753359	G	A	141753359	4	1	16	1	0	0	0	0	0	1	0	0	12762	1124	39	1	1505	1	PTK2	8	141753359	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	199014	141753359	4610663	681	13003											
DENND3	22898	broad.mit.edu	37	chr8	142176464	142176464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctccggctgacggacaccGcaggctgtaggggcagcagc	16	14	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:142176464G>A	uc003yvy.2	+	12	1767	c.1489G>A	c.(1489-1491)GCA>ACA	p.A497T	DENND3_uc010mep.2_Missense_Mutation_p.A458T|DENND3_uc003yvz.1_Missense_Mutation_p.A181T	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	497										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GACGGACACCGCAGGCTGTAG	0.632													A	142176464	G	A	142176464	3	1	16	1	0	0	0	0	1	0	0	0	4432	1087	38	1	1531	1	DENND3	8	142176464	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	423105	142176464	4187558	682	13004											
DENND3	22898	broad.mit.edu	37	chr8	142178455	142178455	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgatgaggctcatcagCgagatcctggacaagccgca	13	11	2	3	rs147231668		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:142178455C>T	uc003yvy.2	+	13	2144	c.1866C>T	c.(1864-1866)AGC>AGT	p.S622S	DENND3_uc010mep.2_Silent_p.S583S|DENND3_uc003yvz.1_Silent_p.S306S	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	622										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCTCATCAGCGAGATCCTGG	0.592													T	142178455	C	T	142178455	2	4	16	1	0	0	0	0	0	0	0	1	4432	767	27	1		1	DENND3	8	142178455	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1991	142178455	4185567	683	13005											
FLJ43860	389690	broad.mit.edu	37	chr8	142517187	142517187	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctggagttttgggacacGgctgacgacactctacccgt	12	12	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:142517187G>A	uc003ywi.2	-	1	144	c.63C>T	c.(61-63)GCC>GCT	p.A21A		NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	21							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TTTGGGACACGGCTGACGACA	0.632													A	142517187	G	A	142517187	2	1	16	1	0	0	0	0	0	0	0	1	5930	1103	39	1		1	FLJ43860	8	142517187	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	338732	142517187	3846835	684	13006											
GPIHBP1	338328	broad.mit.edu	37	chr8	144295734	144295734	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggaggaagaggaagaggaCgaggaccacgggccagatga	18	7	0	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:144295734C>A	uc003yxu.1	+	2	165	c.90C>A	c.(88-90)GAC>GAA	p.D30E		NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high	30	Poly-Glu.				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity				0	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					aggaagaggacgaggaccacg	0.378													A	144295734	C	A	144295734	3	1	16	1	0	0	0	0	1	0	0	0	6612	535	19	5	96	5	GPIHBP1	8	144295734	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1778547	144295734	2068288	685	13007											
ZNF696	79943	broad.mit.edu	37	chr8	144375210	144375210	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacaggtgctaaagagagCagtaccctgatggagtccct	11	12	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:144375210C>T	uc003yxy.3	+	2	448	c.39C>T	c.(37-39)AGC>AGT	p.S13S		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CTAAAGAGAGCAGTACCCTGA	0.493													T	144375210	C	T	144375210	2	4	16	1	0	0	0	0	0	0	0	1	18096	709	25	2		2	ZNF696	8	144375210	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	79476	144375210	1988812	686	13008											
NRBP2	340371	broad.mit.edu	37	chr8	144919209	144919209	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagcaggagaggggactcAcctttctggtctcagagtca	13	10	4	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:144919209A>G	uc011lkt.1	-	14	1403	c.1263_splice	c.e14+1	p.K421_splice	NRBP2_uc003yzv.2_Splice_Site_p.K178_splice|NRBP2_uc003yzz.1_Intron|NRBP2_uc003yzw.2_Splice_Site_p.K213_splice|NRBP2_uc010mfl.2_Splice_Site_p.K213_splice|NRBP2_uc010mfm.2_Splice_Site_p.K178_splice|NRBP2_uc011lks.1_Splice_Site_p.K178_splice|NRBP2_uc003yzy.2_Splice_Site_p.K178_splice	NM_178564	NP_848659	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2						negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)	2	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GAGGGGACTCACCTTTCTGGT	0.637													G	144919209	A	G	144919209	5	3	16	1	0	0	0	0	0	0	1	0	10643	173	6	3	260	3	NRBP2	8	144919209	Splice_Site	SNP	A	TCGA-BR-4292-01A-01D-1126-08	543999	144919209	1444813	687	13009											
EPPK1	83481	broad.mit.edu	37	chr8	144941617	144941617	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggaggaacccggtggcGgcctgcgcctccagcagcca	14	16	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:144941617G>A	uc003zaa.1	-	1	5818	c.5805C>T	c.(5803-5805)GCC>GCT	p.A1935A		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1935	Plectin 32.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCCGGTGGCGGCCTGCGCCT	0.657													A	144941617	G	A	144941617	2	1	16	1	0	0	0	0	0	0	0	1	5190	1103	39	1		1	EPPK1	8	144941617	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	22408	144941617	1422405	688	13010											
PLEC	5339	broad.mit.edu	37	chr8	144998442	144998442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgatgtcagccttgtgttgCgcggcctgctcctccagccg	12	15	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:144998442C>T	uc003zaf.1	-	31	6236	c.6066G>A	c.(6064-6066)GCG>GCA	p.A2022A	PLEC_uc003zab.1_Silent_p.A1885A|PLEC_uc003zac.1_Silent_p.A1889A|PLEC_uc003zad.2_Silent_p.A1885A|PLEC_uc003zae.1_Silent_p.A1853A|PLEC_uc003zag.1_Silent_p.A1863A|PLEC_uc003zah.2_Silent_p.A1871A|PLEC_uc003zaj.2_Silent_p.A1912A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2022	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCTTGTGTTGCGCGGCCTGCT	0.706													T	144998442	C	T	144998442	2	4	16	1	0	0	0	0	0	0	0	1	12052	755	27	1		1	PLEC	8	144998442	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	56825	144998442	1365580	689	13011											
GPR172A	79581	broad.mit.edu	37	chr8	145583577	145583577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgagccacctgccacctcGcttcttacggtcattcttcc	6	17	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:145583577G>A	uc003zcc.1	+	3	582	c.425G>A	c.(424-426)CGC>CAC	p.R142H	FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.R142H|GPR172A_uc003zce.1_Missense_Mutation_p.R142H|GPR172A_uc010mfy.1_Missense_Mutation_p.R142H|GPR172A_uc003zcf.1_Missense_Mutation_p.R142H|GPR172A_uc011llc.1_Missense_Mutation_p.R54H	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A precursor	142						integral to plasma membrane	receptor activity|riboflavin transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CTGCCACCTCGCTTCTTACGG	0.617													A	145583577	G	A	145583577	3	1	16	1	0	0	0	0	1	0	0	0	6669	1087	38	1	431	1	GPR172A	8	145583577	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	585135	145583577	780445	690	13012											
CPSF1	29894	broad.mit.edu	37	chr8	145621823	145621823	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctggcctacccctgagtagCcataaatatcctcgaagtag	9	12	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:145621823C>A	uc003zcj.2	-	25	2891	c.2816G>T	c.(2815-2817)GGC>GTC	p.G939V		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	939					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCCTGAGTAGCCATAAATATC	0.632													A	145621823	C	A	145621823	3	1	16	1	0	0	0	0	1	0	0	0	3824	739	26	5	1571	5	CPSF1	8	145621823	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	38246	145621823	742199	691	13013											
ZNF34	80778	broad.mit.edu	37	chr8	145999196	145999196	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtgagtccgacgatgtcGgataaggattgagccatcac	14	8	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr8:145999196G>A	uc003zdy.3	-	6	1240	c.1138C>T	c.(1138-1140)CGA>TGA	p.R380*	ZNF34_uc010mgb.2_Nonsense_Mutation_p.R277*|ZNF34_uc003zdx.3_Nonsense_Mutation_p.R359*	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	380	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		CGACGATGTCGGATAAGGATT	0.453													A	145999196	G	A	145999196	4	1	16	1	0	0	0	0	0	1	0	0	17853	1124	39	1	548	1	ZNF34	8	145999196	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	377373	145999196	364826	692	13014											
C9orf66	157983	broad.mit.edu	37	chr9	214857	214857	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaatgcggaagtttccagCgccgaccgacagacgaggtt	14	10	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:214857C>T	uc003zge.3	-	1	1037	c.540G>A	c.(538-540)GCG>GCA	p.A180A	DOCK8_uc011lls.1_5'Flank|DOCK8_uc003zgf.2_5'Flank	NM_152569	NP_689782	Q5T8R8	CI066_HUMAN	hypothetical protein LOC157983	180										central_nervous_system(1)	1	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AAGTTTCCAGCGCCGACCGAC	0.701													T	214857	C	T	214857	2	4	16	1	0	0	0	0	0	0	0	1	2490	755	27	1		1	C9orf66	9	214857	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08		214857	140998574	693	13015											
SMARCA2	6595	broad.mit.edu	37	chr9	2054701	2054701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggaactaaaagcacttcGgttactcaatttccagcgtc	8	11	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:2054701G>A	uc003zhc.2	+	6	1250	c.1151G>A	c.(1150-1152)CGG>CAG	p.R384Q	SMARCA2_uc003zhd.2_Missense_Mutation_p.R384Q|SMARCA2_uc010mha.2_Missense_Mutation_p.R375Q	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	384					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AAAGCACTTCGGTTACTCAAT	0.418													A	2054701	G	A	2054701	3	1	16	1	0	0	0	0	1	0	0	0	14769	1116	39	1	1169	1	SMARCA2	9	2054701	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1839844	2054701	139158730	694	13016											
SMARCA2	6595	broad.mit.edu	37	chr9	2123835	2123835	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgacgctgaagtagaaagGctcacctgtgaagaagagga	14	6	1	6			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:2123835G>T	uc003zhc.2	+	27	3978	c.3879G>T	c.(3877-3879)AGG>AGT	p.R1293S	SMARCA2_uc003zhd.2_Missense_Mutation_p.R1293S|SMARCA2_uc010mha.2_Missense_Mutation_p.R1226S	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1293					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AAGTAGAAAGGCTCACCTGTG	0.572													T	2123835	G	T	2123835	3	4	16	1	0	0	0	0	1	0	0	0	14769	1194	42	5	3981	5	SMARCA2	9	2123835	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	69134	2123835	139089596	695	13017											
TYRP1	7306	broad.mit.edu	37	chr9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-													ctcctttttattccaactctAcaaacagtttccgaaacaca							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:12702410_12702413TACAA>T	uc003zkv.4	+	4	1231_1234	c.1053_1056TACAA>T	c.(1051-1056)tctacafs	p.S351fs		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	351					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.N353fs*31(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		ATTCCAACTCTACAAACAGTTTCC	0.387									Oculocutaneous Albinism				-	12702414	ACAA	-	12702411	7	5	16	1	0	1	0	1	0	0	0	0	16813	391	14	0	1068	0	TYRP1	9	12702411	Frame_Shift_Del	DEL	ACAA	TCGA-BR-4292-01A-01D-1126-08	10578576	12702411	128511020	696	13018											
BNC2	54796	broad.mit.edu	37	chr9	16436375	16436375	+	Frame_Shift_Del	DEL	G	G	-													ctactggctcagagggtggcGgggggtgctgctctatggta					rs142872531		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:16436374_16436374CG>C	uc003zml.3	-	5	1958	c.1818_1818CG>G	c.(1816-1818)ccgfs	p.P606fs	BNC2_uc011lmw.2_Frame_Shift_Del_p.P511fs|BNC2_uc003zmm.3_Frame_Shift_Del_p.P564fs|BNC2_uc003zmq.1_Frame_Shift_Del_p.P620fs|BNC2_uc003zmr.1_Frame_Shift_Del_p.P643fs|BNC2_uc003zmp.1_Frame_Shift_Del_p.P634fs|BNC2_uc010mij.1_Frame_Shift_Del_p.P528fs|BNC2_uc011lmv.2_Frame_Shift_Del_p.P432fs|BNC2_uc003zmo.1_Frame_Shift_Del_p.P528fs|BNC2_uc003zmj.3_Frame_Shift_Del_p.P371fs|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Frame_Shift_Del_p.P371fs|BNC2_uc003zmn.1_Frame_Shift_Del_p.P371fs	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	606	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CAGAGGGTGGCGGGGGGTGCT	0.567													-	16436375	G	-	16436375	7	5	16	1	0	1	0	1	0	0	0	0	1475	1116	39	0	1490	0	BNC2	9	16436375	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	3733964	16436375	124777056	697	13019											
KLHL9	55958	broad.mit.edu	37	chr9	21334793	21334793	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtaaaaaagcgtgtggtTcctgccttacaaggctgcaa	11	9	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:21334793T>C	uc003zoy.2	-	1	637	c.66A>G	c.(64-66)GGA>GGG	p.G22G	KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	kelch-like 9	22					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				ovary(3)|skin(1)	4				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		AGCGTGTGGTTCCTGCCTTAC	0.483													C	21334793	T	C	21334793	2	2	16	1	0	0	0	0	0	0	0	1	8396	1770	62	3		3	KLHL9	9	21334793	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	4898418	21334793	119878638	698	13020											
TEK	7010	broad.mit.edu	37	chr9	27206739	27206739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggccaagttcttaaggcgCgcatcaagaaggatgggtta	13	7	2	1	rs147231791	by1000genomes	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:27206739C>T	uc003zqi.3	+	15	2966	c.2524C>T	c.(2524-2526)CGC>TGC	p.R842C	TEK_uc011lno.1_Missense_Mutation_p.R799C|TEK_uc011lnp.1_Missense_Mutation_p.R694C|TEK_uc003zqj.1_Missense_Mutation_p.R776C	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	842	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCTTAAGGCGCGCATCAAGAA	0.453													T	27206739	C	T	27206739	3	4	16	1	0	0	0	0	1	0	0	0	15748	768	27	1	2582	1	TEK	9	27206739	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	5871946	27206739	114006692	699	13021											
C9orf11	54586	broad.mit.edu	37	chr9	27296739	27296739	+	Splice_Site	DEL	A	A	-													gtagcacattaggcaatgctAaaaaaaagtatcacacacca							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:27296738_27296738TA>T	uc003zql.3	-	2	161	c.77_splice	c.e2-1	p.A26_splice	C9orf11_uc011lnq.2_Splice_Site_p.A26_splice|C9orf11_uc003zqm.3_Splice_Site_p.A26_splice	NM_020641	NP_065692	Q9NQ60	AFAF_HUMAN	Homo sapiens chromosome 9 open reading frame 11 (C9orf11), transcript variant 1, mRNA.	26						acrosomal membrane|integral to membrane				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	17				OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106)		TAGGCAATGCTAAAAAAAAGT	0.323													-	27296739	A	-	27296739	8	5	16	1	0	1	0	1	0	0	1	0	2448	377	13	0		0	C9orf11	9	27296739	Splice_Site	DEL	A	TCGA-BR-4292-01A-01D-1126-08	90000	27296739	113916692	700	13022											
SPAG8	26206	broad.mit.edu	37	chr9	35812118	35812118	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccgcgaccgcgaccgcgaTccctccgtagactcgttggt	11	17	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:35812118T>C	uc003zye.2	-	1	142	c.27A>G	c.(25-27)GGA>GGG	p.G9G	SPAG8_uc003zyf.2_5'UTR|SPAG8_uc003zyg.2_Silent_p.G9G	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	sperm associated antigen 8 isoform 2	9						acrosomal vesicle|membrane				ovary(1)	1	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			GCGACCGCGATCCCTCCGTAG	0.592													C	35812118	T	C	35812118	2	2	16	1	0	0	0	0	0	0	0	1	14984	1422	50	3		3	SPAG8	9	35812118	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	8515379	35812118	105401313	701	13023											
C9orf128	392307	broad.mit.edu	37	chr9	35825359	35825359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctagcagggaacactgggcGggctgtgttacctaggatgg	16	9	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:35825359G>A	uc010mlc.2	-	3	895	c.610C>T	c.(610-612)CGC>TGC	p.R204C	C9orf128_uc003zyj.2_RNA|C9orf128_uc011lpg.1_Missense_Mutation_p.R204C	NM_001012446	NP_001012448	A6H8Z2	CI128_HUMAN	hypothetical protein LOC392307	204											0	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			AACACTGGGCGGGCTGTGTTA	0.527													A	35825359	G	A	35825359	3	1	16	1	0	0	0	0	1	0	0	0	2455	1116	39	1	618	1	C9orf128	9	35825359	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	13241	35825359	105388072	702	13024											
CCIN	881	broad.mit.edu	37	chr9	36171031	36171031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtcttgcccaacagctGccccttggatgtgtcccatg	10	15	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:36171031G>A	uc003zzb.3	+	1	1643	c.1532G>A	c.(1531-1533)TGC>TAC	p.C511Y		NM_005893	NP_005884	Q13939	CALI_HUMAN	calicin	511	Kelch 5.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			ovary(1)|skin(1)	2			STAD - Stomach adenocarcinoma(86;0.228)			CCCAACAGCTGCCCCTTGGAT	0.547													A	36171031	G	A	36171031	3	1	16	1	0	0	0	0	1	0	0	0	2878	1319	46	2	1534	2	CCIN	9	36171031	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	345672	36171031	105042400	703	13025											
RNF38	152006	broad.mit.edu	37	chr9	36342424	36342424	+	Splice_Site	DEL	A	A	-													cacatgcatactacacacctAaaaaaagcaaaaagatcatt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:36342423_36342423TA>T	uc003zzh.3	-	11	1577	c.1386_splice	c.e11-1	p.L462_splice	RNF38_uc003zzi.3_Splice_Site_p.L412_splice|RNF38_uc003zzj.3_Splice_Site_p.L379_splice|RNF38_uc003zzk.3_Splice_Site_p.L379_splice|RNF38_uc003zzl.3_Splice_Site_p.L386_splice|RNF38_uc003zzm.3_Splice_Site_p.L379_splice	NM_022781	NP_919313	Q9H0F5	RNF38_HUMAN	Homo sapiens ring finger protein 38 (RNF38), transcript variant 1, mRNA.	462							zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			ACTACACACCTAAAAAAAGCA	0.358													-	36342424	A	-	36342424	8	5	16	1	0	1	0	1	0	0	1	0	13490	377	13	0		0	RNF38	9	36342424	Splice_Site	DEL	A	TCGA-BR-4292-01A-01D-1126-08	171393	36342424	104871007	704	13026											
ZCCHC7	84186	broad.mit.edu	37	chr9	37126308	37126308	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtacaactttctcttttgcaGcttcaaggttactgactttt	6	9	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:37126308G>T	uc003zzq.2	+	2	153	c.-20_splice	c.e2-1		ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Splice_Site|ZCCHC7_uc010mlt.2_Splice_Site|ZCCHC7_uc003zzs.1_Splice_Site	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7								nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(29;0.0137)		CTCTTTTGCAGCTTCAAGGTT	0.363													T	37126308	G	T	37126308	5	4	16	1	0	0	0	0	0	0	1	0	17590	985	34	5		5	ZCCHC7	9	37126308	Splice_Site	SNP	G	TCGA-BR-4292-01A-01D-1126-08	783884	37126308	104087123	705	13027											
FRMPD1	22844	broad.mit.edu	37	chr9	37745690	37745690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagacagtttcaccagccGtccctccagaggggatcaag	11	13	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:37745690G>A	uc004aag.1	+	16	3705	c.3661G>A	c.(3661-3663)GTC>ATC	p.V1221I	FRMPD1_uc004aah.1_Missense_Mutation_p.V1221I	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1221						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		TTCACCAGCCGTCCCTCCAGA	0.527													A	37745690	G	A	37745690	3	1	16	1	0	0	0	0	1	0	0	0	6057	1145	40	1	3719	1	FRMPD1	9	37745690	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	619382	37745690	103467741	706	13028											
RG9MTD3	158234	broad.mit.edu	37	chr9	37763633	37763633	+	Frame_Shift_Del	DEL	C	C	-													atttctgctttaggcatttgCccccagcacagcaaacgttt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:37763632_37763632GC>G	uc004aai.3	+	3	379	c.302_302GC>G	c.(301-303)tgcfs	p.C101fs	RG9MTD3_uc011lqo.2_Frame_Shift_Del_p.C101fs|RG9MTD3_uc011lqp.2_Intron|RG9MTD3_uc011lqq.2_Intron|RG9MTD3_uc004aaj.3_Non-coding_Transcript|RG9MTD3_uc004aak.3_Frame_Shift_Del_p.C6fs	NM_144964	NP_659401	Q6PF06	RG9D3_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 3 (RG9MTD3), mRNA.	101							methyltransferase activity			endometrium(1)|large_intestine(2)|lung(1)	4				GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226)		TTAGGCATTTGCCCCCAGCAC	0.383													-	37763633	C	-	37763633	7	5	16	1	0	1	0	1	0	0	0	0	13273	747	26	0	313	0	RG9MTD3	9	37763633	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	17943	37763633	103449798	707	13029											
PGM5	5239	broad.mit.edu	37	chr9	70993121	70993121	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggatggtttagattggaCgactgattattggacagaat	12	3	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:70993121C>T	uc004agr.2	+	2	497	c.268C>T	c.(268-270)CGA>TGA	p.R90*		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	90					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						TTAGATTGGACGACTGATTAT	0.443													T	70993121	C	T	70993121	4	4	16	1	0	0	0	0	0	1	0	0	11801	528	19	1	274	1	PGM5	9	70993121	Nonsense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	33229488	70993121	70220310	708	13030											
PGM5	5239	broad.mit.edu	37	chr9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattattggacagaatggcAtcttgtcgacacctgcggtc	11	9	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478													G	70993145	A	G	70993145	3	3	16	1	0	0	0	0	1	0	0	0	11801	217	8	3	298	3	PGM5	9	70993145	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	24	70993145	70220286	709	13031											
C9orf41	138199	broad.mit.edu	37	chr9	77598694	77598694	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaccattattgtggctTacggaccacaaacaagacac	8	10	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:77598694T>C	uc004ajq.2	-	8	1372	c.1219A>G	c.(1219-1221)AAG>GAG	p.K407E	uc004ajp.2_Intron	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN	hypothetical protein LOC138199	407										ovary(1)|skin(1)	2						TATTGTGGCTTACGGACCACA	0.363													C	77598694	T	C	77598694	3	2	16	1	0	0	0	0	1	0	0	0	2482	1763	61	3	14	3	C9orf41	9	77598694	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	6605549	77598694	63614737	710	13032											
PCSK5	5125	broad.mit.edu	37	chr9	78710821	78710821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaggggcggagaggcctcGgctctgtgtttgtttgggca	17	8	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:78710821G>A	uc004ajz.2	+	8	1448	c.910G>A	c.(910-912)GGC>AGC	p.G304S	PCSK5_uc004ajy.2_Missense_Mutation_p.G304S|PCSK5_uc004aka.2_RNA	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	304	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3						GAGAGGCCTCGGCTCTGTGTT	0.493													A	78710821	G	A	78710821	3	1	16	1	0	0	0	0	1	0	0	0	11603	1116	39	1	940	1	PCSK5	9	78710821	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1112127	78710821	62502610	711	13033											
FLJ46321	389763	broad.mit.edu	37	chr9	84609582	84609582	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagctgcctttactgggacTactgaagctcagaaaattag	10	8	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:84609582T>G	uc004amn.2	+	4	4244	c.4197T>G	c.(4195-4197)ACT>ACG	p.T1399T		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	1399						integral to membrane					0						TTACTGGGACTACTGAAGCTC	0.453													G	84609582	T	G	84609582	2	3	16	1	0	0	0	0	0	0	0	1	5932	1509	53	5		5	FLJ46321	9	84609582	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	5898761	84609582	56603849	712	13034											
AGTPBP1	23287	broad.mit.edu	37	chr9	88248234	88248234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggaacaacaataggaccaCgtacttttccctcaaataca	5	11	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:88248234C>T	uc011ltd.1	-	13	1391	c.1358G>A	c.(1357-1359)CGT>CAT	p.R453H	AGTPBP1_uc004aod.3_Missense_Mutation_p.R79H|AGTPBP1_uc011ltc.1_Missense_Mutation_p.R351H|AGTPBP1_uc010mqc.2_Missense_Mutation_p.R413H|AGTPBP1_uc011lte.1_Missense_Mutation_p.R465H	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	453					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						AATAGGACCACGTACTTTTCC	0.333													T	88248234	C	T	88248234	3	4	16	1	0	0	0	0	1	0	0	0	400	536	19	1	2374	1	AGTPBP1	9	88248234	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3638652	88248234	52965197	713	13035											
SHC3	53358	broad.mit.edu	37	chr9	91680487	91680487	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccacatatgcaacatagtcAgttgtgtcctgttaaagaaa	8	8	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:91680487A>G	uc004aqg.2	-	6	1099	c.792T>C	c.(790-792)ACT>ACC	p.T264T		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	264	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4						CAACATAGTCAGTTGTGTCCT	0.453													G	91680487	A	G	91680487	2	3	16	1	0	0	0	0	0	0	0	1	14272	175	7	3		3	SHC3	9	91680487	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	3432253	91680487	49532944	714	13036											
SECISBP2	79048	broad.mit.edu	37	chr9	91956315	91956316	+	Frame_Shift_Ins	INS	-	-	G													ttccagtgcagttggacttgINSgggggcatgctgacagccct							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:91956314_91956315T>TG	uc004aqj.1	+	9	1435_1436	c.1355_1356T>TG	c.(1354-1356)ttgfs	p.L452fs	SECISBP2_uc010mqo.1_Frame_Shift_Ins_p.L157fs|SECISBP2_uc004aqk.1_Frame_Shift_Ins_p.L379fs|SECISBP2_uc011ltk.1_Frame_Shift_Ins_p.L451fs|SECISBP2_uc011ltl.1_Frame_Shift_Ins_p.L384fs	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.	452					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CAGTTGGACTTGGGGGGCATGC	0.421													G	91956316	-	G	91956315	7	5	16	1	0	1	1	0	0	0	0	0	14006	1339	47	0	1394	0	SECISBP2	9	91956315	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	275828	91956315	49257116	715	13037											
SYK	6850	broad.mit.edu	37	chr9	93606314	93606314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatttgctgcgccagagccGcaactacctgggtggcttcg	12	12	0	1	rs16906862		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:93606314G>A	uc004aqz.2	+	2	339	c.134G>A	c.(133-135)CGC>CAC	p.R45H	SYK_uc004aqy.2_Missense_Mutation_p.R45H|SYK_uc004ara.2_Missense_Mutation_p.R45H|SYK_uc004arb.2_Missense_Mutation_p.R45H|SYK_uc004arc.2_Missense_Mutation_p.R45H|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	45	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						CGCCAGAGCCGCAACTACCTG	0.617			T	ETV6|ITK	MDS|peripheral T-cell lymphoma								A	93606314	G	A	93606314	3	1	16	1	0	0	0	0	1	0	0	0	15435	1087	38	1	136	1	SYK	9	93606314	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1649999	93606314	47607117	716	13038											
AUH	549	broad.mit.edu	37	chr9	93983200	93983200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctttggcttctttgccatCgaggactcgcgcagagaata	11	10	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:93983200C>T	uc004arf.3	-	7	765	c.730G>A	c.(730-732)GAT>AAT	p.D244N	AUH_uc004arg.3_Missense_Mutation_p.D215N	NM_001698	NP_001689	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-Coenzyme A	244					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding				0						TCTTTGCCATCGAGGACTCGC	0.577													T	93983200	C	T	93983200	3	4	16	1	0	0	0	0	1	0	0	0	1219	884	31	1	305	1	AUH	9	93983200	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	376886	93983200	47230231	717	13039											
ROR2	4920	broad.mit.edu	37	chr9	94495598	94495598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcgcggcacagctcacgcGgcttgggtgtccgggagcgc	17	14	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:94495598G>A	uc004arj.1	-	6	942	c.743C>T	c.(742-744)CCG>CTG	p.P248L	ROR2_uc004ari.1_Missense_Mutation_p.P108L|ROR2_uc004ark.2_Missense_Mutation_p.P248L	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	248	FZ.|Extracellular (Potential).				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						CAGCTCACGCGGCTTGGGTGT	0.647													A	94495598	G	A	94495598	3	1	16	1	0	0	0	0	1	0	0	0	13527	1116	39	1	2104	1	ROR2	9	94495598	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	512398	94495598	46717833	718	13040											
PHF2	5253	broad.mit.edu	37	chr9	96428129	96428129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaggaagaaaaacgcccCgaaaagggacttgtcctgtg	13	9	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:96428129C>T	uc004aub.2	+	15	2246	c.2099C>T	c.(2098-2100)CCG>CTG	p.P700L	PHF2_uc011lug.1_Missense_Mutation_p.P583L|PHF2_uc004auc.2_Missense_Mutation_p.P119L	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	700					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AAAAACGCCCCGAAAAGGGAC	0.612													T	96428129	C	T	96428129	3	4	16	1	0	0	0	0	1	0	0	0	11830	652	23	1	2157	1	PHF2	9	96428129	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1932531	96428129	44785302	719	13041											
ZNF169	169841	broad.mit.edu	37	chr9	97062823	97062823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgtgggcgaggctttcGccagaagatagccctccttc	14	11	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:97062823G>A	uc004aum.1	+	5	1088	c.983G>A	c.(982-984)CGC>CAC	p.R328H		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	328	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				CGAGGCTTTCGCCAGAAGATA	0.547													A	97062823	G	A	97062823	3	1	16	1	0	0	0	0	1	0	0	0	17739	1087	38	1	997	1	ZNF169	9	97062823	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	634694	97062823	44150608	720	13042											
HIATL1	84641	broad.mit.edu	37	chr9	97203311	97203311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctggagtcttctcggtcaCgttttctgttatatttgcct	9	9	5	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:97203311C>T	uc004aur.2	+	5	709	c.440C>T	c.(439-441)ACG>ATG	p.T147M	HIATL1_uc011luh.1_Missense_Mutation_p.T82M	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	147	Helical; (Potential).				transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				TTCTCGGTCACGTTTTCTGTT	0.368													T	97203311	C	T	97203311	3	4	16	1	0	0	0	0	1	0	0	0	7098	536	19	1	458	1	HIATL1	9	97203311	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	140488	97203311	44010120	721	13043											
FBP1	2203	broad.mit.edu	37	chr9	97382707	97382707	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatgttcataaccaggtcGttggagaggacgtccagctt	11	9	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:97382707G>A	uc004auw.3	-	2	568	c.237C>T	c.(235-237)AAC>AAT	p.N79N	FBP1_uc010mrl.2_Silent_p.N79N	NM_000507	NP_000498	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	79					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)	TAACCAGGTCGTTGGAGAGGA	0.458													A	97382707	G	A	97382707	2	1	16	1	0	0	0	0	0	0	0	1	5705	1136	40	1		1	FBP1	9	97382707	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	179396	97382707	43830724	722	13044											
ZNF510	22869	broad.mit.edu	37	chr9	99521928	99521928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatcattgagtgacttcttCggcgaactctgtgaaccgac	9	11	4	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:99521928C>T	uc004awn.1	-	6	1373	c.1184G>A	c.(1183-1185)CGA>CAA	p.R395Q	ZNF510_uc004awo.1_Missense_Mutation_p.R395Q	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				GTGACTTCTTCGGCGAACTCT	0.398													T	99521928	C	T	99521928	3	4	16	1	0	0	0	0	1	0	0	0	17951	884	31	1	871	1	ZNF510	9	99521928	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2139221	99521928	41691503	723	13045											
TBC1D2	55357	broad.mit.edu	37	chr9	100961787	100961787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcagctcagcctccagcCgctcccggtggaccatgcgc	11	20	1	0	rs145458773	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:100961787C>T	uc011lvb.1	-	13	2843	c.2663G>A	c.(2662-2664)CGG>CAG	p.R888Q	TBC1D2_uc004ayp.2_Missense_Mutation_p.R428Q|TBC1D2_uc004ayq.2_Missense_Mutation_p.R877Q|TBC1D2_uc004ayr.2_Missense_Mutation_p.R670Q|TBC1D2_uc004ayo.3_3'UTR	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	888	Potential.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			ovary(3)	3		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGCCTCCAGCCGCTCCCGGTG	0.637													T	100961787	C	T	100961787	3	4	16	1	0	0	0	0	1	0	0	0	15605	652	23	1	127	1	TBC1D2	9	100961787	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1439859	100961787	40251644	724	13046											
GABBR2	9568	broad.mit.edu	37	chr9	101304194	101304194	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgcgtcagcgtgcccacGcgcttccactggtagtgctt	11	14	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:101304194G>A	uc004ays.2	-	3	747	c.591C>T	c.(589-591)CGC>CGT	p.R197R		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	197	Extracellular (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GCGTGCCCACGCGCTTCCACT	0.522													A	101304194	G	A	101304194	2	1	16	1	0	0	0	0	0	0	0	1	6156	1074	38	1		1	GABBR2	9	101304194	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	342407	101304194	39909237	725	13047											
ANKS6	203286	broad.mit.edu	37	chr9	101536250	101536250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccttcccgttgtgacgcGtccgggaccgatcagagctc	12	15	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:101536250G>A	uc004ayu.2	-	9	1751	c.1730C>T	c.(1729-1731)ACG>ATG	p.T577M	ANKS6_uc004ayt.2_Missense_Mutation_p.T276M|ANKS6_uc004ayv.1_Missense_Mutation_p.T39M|ANKS6_uc004ayw.1_Missense_Mutation_p.T159M|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	577										ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				GTTGTGACGCGTCCGGGACCG	0.632													A	101536250	G	A	101536250	3	1	16	1	0	0	0	0	1	0	0	0	692	1145	40	1	913	1	ANKS6	9	101536250	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	232056	101536250	39677181	726	13048											
COL15A1	1306	broad.mit.edu	37	chr9	101832036	101832036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaagcatggcgaaccgcGgacacagcggtcacgggact	15	11	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:101832036G>A	uc004azb.1	+	42	4241	c.4035G>A	c.(4033-4035)GCG>GCA	p.A1345A		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1345	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				GGCGAACCGCGGACACAGCGG	0.537													A	101832036	G	A	101832036	2	1	16	1	0	0	0	0	0	0	0	1	3672	1103	39	1		1	COL15A1	9	101832036	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	295786	101832036	39381395	727	13049											
INVS	27130	broad.mit.edu	37	chr9	103035177	103035177	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgattatgctttgcttggtGagcgccatgaagtgatccag	12	7	0	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:103035177G>T	uc004bap.1	+	12	1815	c.1603G>T	c.(1603-1605)GAG>TAG	p.E535*	INVS_uc010mta.1_Nonsense_Mutation_p.E439*|INVS_uc011lve.1_Nonsense_Mutation_p.E439*|INVS_uc004bao.1_Nonsense_Mutation_p.E535*|INVS_uc004baq.1_Nonsense_Mutation_p.E439*|INVS_uc004bar.1_Nonsense_Mutation_p.E439*|INVS_uc010mtb.1_Nonsense_Mutation_p.E209*	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	535	ANK 16.				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				TTTGCTTGGTGAGCGCCATGA	0.428													T	103035177	G	T	103035177	4	4	16	1	0	0	0	0	0	1	0	0	7787	1291	45	5	1645	5	INVS	9	103035177	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1203141	103035177	38178254	728	13050											
SMC2	10592	broad.mit.edu	37	chr9	106876290	106876290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcgcaggcagctgtctcGtgatattggtagattgaaag	13	6	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:106876290G>A	uc004bbv.2	+	12	1748	c.1460G>A	c.(1459-1461)CGT>CAT	p.R487H	SMC2_uc004bbu.1_Missense_Mutation_p.R487H|SMC2_uc004bbw.2_Missense_Mutation_p.R487H|SMC2_uc011lvl.1_Missense_Mutation_p.R487H|SMC2_uc004bbx.2_Missense_Mutation_p.R487H	NM_001042551	NP_001036016	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	487	Potential.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						CAGCTGTCTCGTGATATTGGT	0.343													A	106876290	G	A	106876290	3	1	16	1	0	0	0	0	1	0	0	0	14783	1145	40	1	1502	1	SMC2	9	106876290	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	3841113	106876290	34337141	729	13051											
KLF4	9314	broad.mit.edu	37	chr9	110249320	110249320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccccctacctgtgtgggttCgcaggtgtgccttgagatgg	14	11	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:110249320C>T	uc004bdh.2	-	3	1949	c.1328G>A	c.(1327-1329)CGA>CAA	p.R443Q	KLF4_uc004bdf.1_Missense_Mutation_p.R368Q|KLF4_uc004bdg.2_Missense_Mutation_p.R418Q	NM_004235	NP_004226	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	452	C2H2-type 1.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(2)|lung(1)	3						TGTGTGGGTTCGCAGGTGTGC	0.587													T	110249320	C	T	110249320	3	4	16	1	0	0	0	0	1	0	0	0	8348	884	31	1	194	1	KLF4	9	110249320	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3373030	110249320	30964111	730	13052											
EPB41L4B	54566	broad.mit.edu	37	chr9	112015826	112015826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagcttgatattctgtccGcccactgggaagtaaatatt	9	8	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:112015826G>A	uc004bdz.1	-	12	1469	c.1174C>T	c.(1174-1176)CGG>TGG	p.R392W	EPB41L4B_uc004bea.2_Missense_Mutation_p.R392W	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	392						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						TATTCTGTCCGCCCACTGGGA	0.423													A	112015826	G	A	112015826	3	1	16	1	0	0	0	0	1	0	0	0	5156	1086	38	1	1740	1	EPB41L4B	9	112015826	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1766506	112015826	29197605	731	13053											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112687354	112687354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctacagggtttctccagtaCggatggaggtaagtgctctc	12	10	2	0	rs150674445		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:112687354C>T	uc004bei.2	+	5	578	c.386C>T	c.(385-387)ACG>ATG	p.T129M	PALM2_uc004bef.2_Missense_Mutation_p.T131M|PALM2_uc004beg.2_Missense_Mutation_p.T131M|PALM2_uc004beh.3_Missense_Mutation_p.T129M|PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.T129M|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.T129M|PALM2-AKAP2_uc004bel.1_Translation_Start_Site	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	Error:Variant_position_missing_in_Q9Y2D5_after_alignment							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						TTCTCCAGTACGGATGGAGGT	0.458													T	112687354	C	T	112687354	3	4	16	1	0	0	0	0	1	0	0	0	11410	536	19	1	404	1	PALM2-AKAP2	9	112687354	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	671528	112687354	28526077	732	13054											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112898790	112898790	+	Frame_Shift_Del	DEL	C	C	-													gttctggtgggcggcctaagCccccctgtccacgaggcgac							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:112898789_112898789GC>G	uc004bei.2	+	8	1853	c.1661_1661GC>G	c.(1660-1662)agcfs	p.S554fs	PALM2-AKAP2_uc004bej.4_Frame_Shift_Del_p.S322fs|PALM2-AKAP2_uc004bek.4_Frame_Shift_Del_p.S322fs|PALM2-AKAP2_uc004bel.1_Frame_Shift_Del_p.S132fs|PALM2-AKAP2_uc011lwi.2_Frame_Shift_Del_p.S180fs|PALM2-AKAP2_uc004bem.3_Frame_Shift_Del_p.S180fs|PALM2-AKAP2_uc010mtw.1_Frame_Shift_Del_p.S140fs|PALM2-AKAP2_uc011lwj.2_Frame_Shift_Del_p.S91fs|PALM2-AKAP2_uc004ben.3_Frame_Shift_Del_p.S91fs	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	91							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GGCGGCCTAAGCCCCCCTGTC	0.602													-	112898790	C	-	112898790	7	5	16	1	0	1	0	1	0	0	0	0	11410	738	26	0	996	0	PALM2-AKAP2	9	112898790	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	211436	112898790	28314641	733	13055											
RGS3	5998	broad.mit.edu	37	chr9	116359161	116359161	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcatggaaaaggactcGtaccctcgctttctccgttc	10	13	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:116359161G>A	uc004bhq.2	+	26	3734	c.3525G>A	c.(3523-3525)TCG>TCA	p.S1175S	RGS3_uc004bhs.2_Silent_p.S1065S|RGS3_uc004bht.2_Silent_p.S894S|RGS3_uc010muy.2_Silent_p.S568S|RGS3_uc004bhv.2_Silent_p.S496S|RGS3_uc004bhw.2_Silent_p.S145S|RGS3_uc011lxh.1_Silent_p.S485S|RGS3_uc004bhx.2_Silent_p.S496S|RGS3_uc004bhz.2_Silent_p.S517S|RGS3_uc004bia.2_Silent_p.S288S	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	1175	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						AAAAGGACTCGTACCCTCGCT	0.582													A	116359161	G	A	116359161	2	1	16	1	0	0	0	0	0	0	0	1	13306	1132	40	1		1	RGS3	9	116359161	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	3460371	116359161	24854270	734	13056											
AMBP	259	broad.mit.edu	37	chr9	116838907	116838907	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggtcatgctgatctcCgcctctgtagcgccctctcc	10	16	4	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:116838907C>T	uc004bie.3	-	2	494	c.231G>A	c.(229-231)GCG>GCA	p.A77A	AMBP_uc011lxk.1_Silent_p.A18A|AMBP_uc010mvc.1_RNA	NM_001633	NP_001624	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin preproprotein	77					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			skin(1)	1					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGCTGATCTCCGCCTCTGTAG	0.607													T	116838907	C	T	116838907	2	4	16	1	0	0	0	0	0	0	0	1	564	639	23	1		1	AMBP	9	116838907	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	479746	116838907	24374524	735	13057											
TNFSF8	944	broad.mit.edu	37	chr9	117692480	117692480	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaatagaaatagctgcggCtcgtggtccccaggtggctg	13	10	1	1	rs139509296		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:117692480C>A	uc004bji.1	-	1	291	c.104G>T	c.(103-105)AGC>ATC	p.S35I		NM_001244	NP_001235	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily,	35	Cytoplasmic (Potential).				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			lung(3)|skin(2)|ovary(1)	6						ATAGCTGCGGCTCGTGGTCCC	0.602													A	117692480	C	A	117692480	3	1	16	1	0	0	0	0	1	0	0	0	16308	797	28	5	616	5	TNFSF8	9	117692480	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	853573	117692480	23520951	736	13058											
TNC	3371	broad.mit.edu	37	chr9	117853061	117853061	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcgctgggctctgaaggCggtgccaggtctttctcccc	12	14	3	1	rs149512169		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:117853061C>T	uc004bjj.3	-	2	599	c.237G>A	c.(235-237)CCG>CCA	p.P79P	TNC_uc010mvf.2_Silent_p.P79P	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	79					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						GCTCTGAAGGCGGTGCCAGGT	0.562													T	117853061	C	T	117853061	2	4	16	1	0	0	0	0	0	0	0	1	16267	755	27	1		1	TNC	9	117853061	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	160581	117853061	23360370	737	13059											
ASTN2	23245	broad.mit.edu	37	chr9	119737508	119737508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacatctgcagggtcttccGtgacgagcacatcggtcttg	12	11	3	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:119737508G>A	uc004bjs.1	-	10	1969	c.1868C>T	c.(1867-1869)ACG>ATG	p.T623M	ASTN2_uc004bjr.1_Missense_Mutation_p.T619M|ASTN2_uc004bjt.1_Missense_Mutation_p.T572M	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	623	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						AGGGTCTTCCGTGACGAGCAC	0.552													A	119737508	G	A	119737508	3	1	16	1	0	0	0	0	1	0	0	0	1065	1145	40	1	2439	1	ASTN2	9	119737508	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1884447	119737508	21475923	738	13060											
ASTN2	23245	broad.mit.edu	37	chr9	120053685	120053685	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtgggggcggtggcttgggCcagctgcccggagctgctca	19	11	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:120053685C>G	uc004bjs.1	-	2	651	c.550G>C	c.(550-552)GCC>CCC	p.A184P	ASTN2_uc004bjr.1_Missense_Mutation_p.A184P|ASTN2_uc004bjt.1_Missense_Mutation_p.A184P	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	184	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						GTGGCTTGGGCCAGCTGCCCG	0.602													G	120053685	C	G	120053685	3	3	16	1	0	0	0	0	1	0	0	0	1065	739	26	5	3632	5	ASTN2	9	120053685	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	316177	120053685	21159746	739	13061											
GOLGA1	2800	broad.mit.edu	37	chr9	127652731	127652731	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcttgagccatggccacgctCacaatttctctttggctcca	8	14	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:127652731C>A	uc004bpc.2	-	16	1776	c.1434G>T	c.(1432-1434)GTG>GTT	p.V478V	GOLGA1_uc010mws.2_RNA	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	golgin 97	478	Potential.|Gln-rich.					Golgi cisterna membrane				ovary(1)	1						TGGCCACGCTCACAATTTCTC	0.532													A	127652731	C	A	127652731	2	1	16	1	0	0	0	0	0	0	0	1	6551	813	29	5		5	GOLGA1	9	127652731	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	7599046	127652731	13560700	740	13062											
GOLGA1	2800	broad.mit.edu	37	chr9	127684160	127684160	+	Frame_Shift_Del	DEL	T	T	-													attttccctagactttcttcTttttttaaaagctgacacaa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:127684159_127684159CT>C	uc004bpc.3	-	8	916	c.574_574AG>G	c.(574-576)gaafs	p.E192fs	GOLGA1_uc010mws.3_Non-coding_Transcript|GOLGA1_uc010mwt.1_Frame_Shift_Del_p.E167fs	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	Homo sapiens golgin A1 (GOLGA1), mRNA.	192						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						AGACTTTCTTCTTTTTTTAAA	0.408													-	127684160	T	-	127684160	7	5	16	1	0	1	0	1	0	0	0	0	6551	1606	56	0	1790	0	GOLGA1	9	127684160	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	31429	127684160	13529271	741	13063											
SCAI	286205	broad.mit.edu	37	chr9	127818218	127818218	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaatctgtaactgttttcCtctctccctgtgggatatca	6	10	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:127818218C>A	uc004bpe.2	-	3	248	c.167G>T	c.(166-168)AGG>ATG	p.R56M	SCAI_uc004bpd.2_Missense_Mutation_p.R79M|SCAI_uc010mwu.2_RNA	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion isoform 2	56	Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			ovary(2)|breast(2)|central_nervous_system(1)	5						AACTGTTTTCCTCTCTCCCTG	0.378													A	127818218	C	A	127818218	3	1	16	1	0	0	0	0	1	0	0	0	13869	681	24	5	1717	5	SCAI	9	127818218	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	134058	127818218	13395213	742	13064											
RABEPK	10244	broad.mit.edu	37	chr9	127982827	127982827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctggcccagaaaccaggaCgtggaccacgccagaagtga	12	13	1	3	rs144370574		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:127982827C>T	uc004bpi.2	+	6	547	c.374C>T	c.(373-375)ACG>ATG	p.T125M	RABEPK_uc004bph.1_Missense_Mutation_p.R149C|RABEPK_uc004bpj.2_Missense_Mutation_p.T74M|RABEPK_uc004bpk.2_Missense_Mutation_p.T125M|RABEPK_uc004bpl.1_Missense_Mutation_p.T74M|RABEPK_uc004bpm.2_Missense_Mutation_p.T125M	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	125	Kelch 2.				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1						GAAACCAGGACGTGGACCACG	0.537													T	127982827	C	T	127982827	3	4	16	1	0	0	0	0	1	0	0	0	12963	536	19	1	388	1	RABEPK	9	127982827	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	164609	127982827	13230604	743	13065											
HSPA5	3309	broad.mit.edu	37	chr9	127998919	127998919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcaccagttgggggaggGcctgcacttccatagagttt	12	10	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:127998919G>A	uc004bpn.2	-	8	2173	c.1917C>T	c.(1915-1917)GGC>GGT	p.G639G		NM_005347	NP_005338	P11021	GRP78_HUMAN	heat shock 70kDa protein 5	639					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			ovary(3)|skin(1)	4					Antihemophilic Factor(DB00025)	TTGGGGGAGGGCCTGCACTTC	0.413										Prostate(1;0.17)			A	127998919	G	A	127998919	2	1	16	1	0	0	0	0	0	0	0	1	7414	1190	42	2		2	HSPA5	9	127998919	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	16092	127998919	13214512	744	13066											
ZBTB43	23099	broad.mit.edu	37	chr9	129595780	129595780	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttttccggagagaggtcagAtgggaatctaattgggcaca	14	6	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:129595780A>G	uc004bql.2	+	3	1265	c.992A>G	c.(991-993)GAT>GGT	p.D331G	ZBTB43_uc010mxf.2_Missense_Mutation_p.D331G	NM_014007	NP_054726	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GAGAGGTCAGATGGGAATCTA	0.458													G	129595780	A	G	129595780	3	3	16	1	0	0	0	0	1	0	0	0	17541	333	12	3	994	3	ZBTB43	9	129595780	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	1596861	129595780	11617651	745	13067											
ANGPTL2	23452	broad.mit.edu	37	chr9	129870416	129870416	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcagtgctcctcaagctGcgcgatgatctctgattggt	12	11	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:129870416G>A	uc004bqr.1	-	2	1095	c.595C>T	c.(595-597)CAG>TAG	p.Q199*	RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_Intron	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2 precursor	199	Potential.				multicellular organismal development|signal transduction	extracellular space	receptor binding				0						TCCTCAAGCTGCGCGATGATC	0.662													A	129870416	G	A	129870416	4	1	16	1	0	0	0	0	0	1	0	0	614	1328	46	2	902	2	ANGPTL2	9	129870416	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	274636	129870416	11343015	746	13068											
RPL12	6136	broad.mit.edu	37	chr9	130210644	130210644	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctggctaaggatcggtgCcgcatctgtcgagcaatgtt	12	10	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:130210644C>T	uc004bqy.1	-	5	439	c.351G>A	c.(349-351)CGG>CGA	p.R117R	RPL12_uc004bqx.1_RNA|RPL12_uc004bqz.1_Silent_p.R84R	NM_000976	NP_000967	P30050	RL12_HUMAN	ribosomal protein L12	117					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome				0						AGGATCGGTGCCGCATCTGTC	0.418													T	130210644	C	T	130210644	2	4	16	1	0	0	0	0	0	0	0	1	13558	726	26	2		2	RPL12	9	130210644	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	340228	130210644	11002787	747	13069											
SH2D3C	10044	broad.mit.edu	37	chr9	130507045	130507045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccccagtccccttcagggGccccattttctgacagttcc	8	17	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:130507045G>A	uc004bsc.2	-	7	1740	c.1598C>T	c.(1597-1599)GCC>GTC	p.A533V	SH2D3C_uc010mxo.2_Missense_Mutation_p.A373V|SH2D3C_uc004bry.2_Missense_Mutation_p.A375V|SH2D3C_uc004brz.3_Missense_Mutation_p.A179V|SH2D3C_uc011mak.1_Missense_Mutation_p.A179V|SH2D3C_uc004bsa.2_Missense_Mutation_p.A376V|SH2D3C_uc004bsb.2_Missense_Mutation_p.A465V	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	533					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						CCCTTCAGGGGCCCCATTTTC	0.607													A	130507045	G	A	130507045	3	1	16	1	0	0	0	0	1	0	0	0	14234	1203	42	2	1008	2	SH2D3C	9	130507045	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	296401	130507045	10706386	748	13070											
LRRC8A	56262	broad.mit.edu	37	chr9	131670129	131670129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcgtggaccgctcagagaCgggcgtgctggacaagaagg	16	9	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:131670129C>T	uc004bwl.3	+	3	940	c.686C>T	c.(685-687)ACG>ATG	p.T229M	LRRC8A_uc010myp.2_Missense_Mutation_p.T229M|LRRC8A_uc010myq.2_Missense_Mutation_p.T229M	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	229					pre-B cell differentiation	integral to membrane					0						CGCTCAGAGACGGGCGTGCTG	0.602													T	131670129	C	T	131670129	3	4	16	1	0	0	0	0	1	0	0	0	9021	536	19	1	688	1	LRRC8A	9	131670129	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1163084	131670129	9543302	749	13071											
NUP188	23511	broad.mit.edu	37	chr9	131755602	131755602	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgattctagagttcctcActgttgcagtagagacccag	9	10	3	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:131755602A>G	uc004bws.1	+	26	2789	c.2767A>G	c.(2767-2769)ACT>GCT	p.T923A	NUP188_uc004bwu.2_Missense_Mutation_p.T266A	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	923					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						AGAGTTCCTCACTGTTGCAGT	0.502											OREG0019527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	131755602	A	G	131755602	3	3	16	1	0	0	0	0	1	0	0	0	10758	159	6	3	2869	3	NUP188	9	131755602	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	85473	131755602	9457829	750	13072											
FUBP3	8939	broad.mit.edu	37	chr9	133506014	133506015	+	Splice_Site	INS	-	-	G													ctgtgttgtgctgtccgcagINSggggtgagaacatcaaaagc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:133506013_133506014A>AG	uc004bzr.1	+	13	1226	c.1118_splice	c.e13-1	p.G373_splice		NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 3 (FUBP3), mRNA.	373	KH 4.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		TGCTGTCCGCAGGGGGTGAGAA	0.589													G	133506015	-	G	133506014	8	5	16	1	0	1	1	0	0	0	1	0	6093	1014	35	0	1167	0	FUBP3	9	133506014	Splice_Site	INS	-	TCGA-BR-4292-01A-01D-1126-08	1750412	133506014	7707417	751	13073											
FAM78A	286336	broad.mit.edu	37	chr9	134136213	134136213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtggtcctggctgtcacCggtgcttgggcgggatcacc	17	12	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:134136213C>T	uc004cak.2	-	2	1188	c.848G>A	c.(847-849)CGG>CAG	p.R283Q	FAM78A_uc004caj.2_Missense_Mutation_p.R280Q	NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN	hypothetical protein LOC286336	283										ovary(1)	1	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		TGGCTGTCACCGGTGCTTGGG	0.567													T	134136213	C	T	134136213	3	4	16	1	0	0	0	0	1	0	0	0	5626	652	23	1	7	1	FAM78A	9	134136213	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	630199	134136213	7077218	752	13074											
NTNG2	84628	broad.mit.edu	37	chr9	135073517	135073517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagccaacatcaccctttcGtggaacaagaccgtggagct	10	12	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:135073517G>A	uc004cbh.2	+	3	1154	c.378G>A	c.(376-378)TCG>TCA	p.S126S		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	126	Laminin N-terminal.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TCACCCTTTCGTGGAACAAGA	0.632													A	135073517	G	A	135073517	2	1	16	1	0	0	0	0	0	0	0	1	10705	1132	40	1		1	NTNG2	9	135073517	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	937304	135073517	6139914	753	13075											
SETX	23064	broad.mit.edu	37	chr9	135203509	135203509	+	Frame_Shift_Del	DEL	T	T	-													cagatcgttttctcttaggcTtttttacttcaatttcacaa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:135203508_135203508CT>C	uc004cbk.3	-	9	3660	c.3477_3477AG>G	c.(3475-3477)aagfs	p.K1159fs	SETX_uc004cbj.3_Frame_Shift_Del_p.K778fs|SETX_uc010mzt.3_Frame_Shift_Del_p.K778fs	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1159					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTCTCTTAGGCTTTTTTACTT	0.388													-	135203509	T	-	135203509	7	5	16	1	0	1	0	1	0	0	0	0	14141	1609	56	0	4625	0	SETX	9	135203509	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	129992	135203509	6009922	754	13076											
SARDH	1757	broad.mit.edu	37	chr9	136536721	136536721	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaggccgtgcttggcaccCgcggccatcacagcccggta	13	15	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:136536721C>T	uc004cep.3	-	18	2396	c.2262G>A	c.(2260-2262)GCG>GCA	p.A754A	SARDH_uc004ceo.2_Silent_p.A754A|SARDH_uc011mdn.1_Silent_p.A754A|SARDH_uc011mdo.1_Silent_p.A586A|SARDH_uc004cen.2_Silent_p.A182A	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	754					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCTTGGCACCCGCGGCCATCA	0.662													T	136536721	C	T	136536721	2	4	16	1	0	0	0	0	0	0	0	1	13841	639	23	1		1	SARDH	9	136536721	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1333212	136536721	4676710	755	13077											
VAV2	7410	broad.mit.edu	37	chr9	136660824	136660824	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttctttgagctgctgcCtctcaggccgttccgcagaa	11	13	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:136660824C>A	uc004ces.2	-	12	1113	c.1067G>T	c.(1066-1068)AGG>ATG	p.R356M	VAV2_uc004cer.2_Missense_Mutation_p.R351M	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	356	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GAGCTGCTGCCTCTCAGGCCG	0.587													A	136660824	C	A	136660824	3	1	16	1	0	0	0	0	1	0	0	0	17129	681	24	5	1645	5	VAV2	9	136660824	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	124103	136660824	4552607	756	13078											
COL5A1	1289	broad.mit.edu	37	chr9	137674515	137674515	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgtcccatattcagggTgaagacggctttcctgggtt	11	10	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:137674515T>C	uc004cfe.2	+	29	2815	c.2433T>C	c.(2431-2433)GGT>GGC	p.G811G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	811	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ATATTCAGGGTGAAGACGGCT	0.577													C	137674515	T	C	137674515	2	2	16	1	0	0	0	0	0	0	0	1	3696	1683	59	3		3	COL5A1	9	137674515	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	1013691	137674515	3538916	757	13079											
FCN1	2219	broad.mit.edu	37	chr9	137803098	137803098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagtccaccaggtctacaCggagctcgctgcttcctgtt	9	14	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:137803098C>T	uc004cfi.2	-	8	706	c.614G>A	c.(613-615)CGT>CAT	p.R205H		NM_002003	NP_001994	O00602	FCN1_HUMAN	ficolin 1 precursor	205	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CAGGTCTACACGGAGCTCGCT	0.488													T	137803098	C	T	137803098	3	4	16	1	0	0	0	0	1	0	0	0	5791	536	19	1	374	1	FCN1	9	137803098	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	128583	137803098	3410333	758	13080											
LHX3	8022	broad.mit.edu	37	chr9	139092502	139092502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtggcgtgtggcagtcGctgcacttgagacacttgct	14	11	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:139092502G>A	uc004cha.2	-	2	274	c.177C>T	c.(175-177)AGC>AGT	p.S59S	LHX3_uc004cgz.2_Silent_p.S64S	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN	LIM homeobox protein 3 isoform a	59	LIM zinc-binding 1.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		TGTGGCAGTCGCTGCACTTGA	0.607													A	139092502	G	A	139092502	2	1	16	1	0	0	0	0	0	0	0	1	8772	1078	38	1		1	LHX3	9	139092502	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1289404	139092502	2120929	759	13081											
PMPCA	23203	broad.mit.edu	37	chr9	139310805	139310805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggacctgaacctgcggCctgacccagagccacttctc	11	15	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:139310805C>T	uc004chl.2	+	6	600	c.595C>T	c.(595-597)CCT>TCT	p.P199S	PMPCA_uc011mdy.1_Missense_Mutation_p.P199S|PMPCA_uc010nbk.2_RNA|PMPCA_uc010nbl.2_Missense_Mutation_p.P99S|PMPCA_uc011mdz.1_Missense_Mutation_p.P68S|PMPCA_uc004chm.1_5'UTR|PMPCA_uc004chn.1_5'Flank	NM_015160	NP_055975	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	199					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GAACCTGCGGCCTGACCCAGA	0.562													T	139310805	C	T	139310805	3	4	16	1	0	0	0	0	1	0	0	0	12140	739	26	2	617	2	PMPCA	9	139310805	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	218303	139310805	1902626	760	13082											
INPP5E	56623	broad.mit.edu	37	chr9	139328514	139328514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacagccctcctggacccCgatgacatacaggtcctggg	11	14	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:139328514C>T	uc004cho.2	-	3	1394	c.1009G>A	c.(1009-1011)GGG>AGG	p.G337R	INPP5E_uc010nbm.2_Missense_Mutation_p.G337R	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase E	337						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			skin(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		TCCTGGACCCCGATGACATAC	0.672													T	139328514	C	T	139328514	3	4	16	1	0	0	0	0	1	0	0	0	7757	652	23	1	957	1	INPP5E	9	139328514	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	17709	139328514	1884917	761	13083											
LCN10	414332	broad.mit.edu	37	chr9	139635288	139635288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccgctgtgcctgctcacGgaagagcagcaggttcttgt	12	12	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:139635288G>A	uc010nbq.2	-	3	495	c.436C>T	c.(436-438)CAT>TAT	p.H146Y	LCN10_uc004civ.2_Missense_Mutation_p.H159Y|LCN10_uc011med.1_Intron|LCN10_uc011mee.1_Intron|LCN10_uc011mef.1_Intron|LCN10_uc004ciw.2_RNA			Q6JVE6	LCN10_HUMAN	SubName: Full=LCN10 protein;	146					transport	extracellular region	binding			large_intestine(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		GCCTGCTCACGGAAGAGCAGC	0.368													A	139635288	G	A	139635288	3	1	16	1	0	0	0	0	1	0	0	0	8681	1130	39	1	139	1	LCN10	9	139635288	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	306774	139635288	1578143	762	13084											
C9orf139	401563	broad.mit.edu	37	chr9	139927540	139927540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcggggtcaccctgagCcccagccaaccaacacccca	8	21	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:139927540C>T	uc004ckp.1	+	2	1539	c.25C>T	c.(25-27)CCC>TCC	p.P9S	FUT7_uc004ckq.2_5'Flank	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	hypothetical protein LOC401563	9											0	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		TCACCCTGAGCCCCAGCCAAC	0.652													T	139927540	C	T	139927540	3	4	16	1	0	0	0	0	1	0	0	0	2459	739	26	2	27	2	C9orf139	9	139927540	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	292252	139927540	1285891	763	13085											
ANAPC2	29882	broad.mit.edu	37	chr9	140079368	140079368	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccggggcaggaccacctcGgacgatgctgaagagctcct	15	13	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:140079368G>A	uc004clr.1	-	4	1118	c.1045C>T	c.(1045-1047)CGA>TGA	p.R349*	ANAPC2_uc004clq.1_Nonsense_Mutation_p.R208*	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	anaphase-promoting complex subunit 2	349					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GGACCACCTCGGACGATGCTG	0.672													A	140079368	G	A	140079368	4	1	16	1	0	0	0	0	0	1	0	0	603	1124	39	1	1463	1	ANAPC2	9	140079368	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	151828	140079368	1134063	764	13086											
ENTPD8	377841	broad.mit.edu	37	chr9	140331728	140331728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggctctcaccagcctgtGcagcattagaagtgtaggag	13	10	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:140331728G>A	uc004cmw.2	-	4	462	c.278C>T	c.(277-279)GCA>GTA	p.A93V	C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Missense_Mutation_p.A93V|ENTPD8_uc004cmy.2_Missense_Mutation_p.A93V	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	93	Extracellular (Potential).					integral to membrane|plasma membrane	ATP binding			skin(1)	1	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		ACCAGCCTGTGCAGCATTAGA	0.642													A	140331728	G	A	140331728	3	1	16	1	0	0	0	0	1	0	0	0	5145	1319	46	2	1237	2	ENTPD8	9	140331728	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	252360	140331728	881703	765	13087											
NELF	26012	broad.mit.edu	37	chr9	140347017	140347017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacataccaaggatgtcctCgaaggttgcgtgctcatggt	12	10	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:140347017C>T	uc004cna.2	-	11	1385	c.1153G>A	c.(1153-1155)GAG>AAG	p.E385K	C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_Missense_Mutation_p.E182K|NELF_uc010nci.2_Missense_Mutation_p.E129K|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Missense_Mutation_p.E362K|NELF_uc004cmz.2_Missense_Mutation_p.E383K|NELF_uc004cnc.2_Missense_Mutation_p.E360K|NELF_uc004cnb.2_Missense_Mutation_p.E355K	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	nasal embryonic LHRH factor isoform a	385						nucleus|plasma membrane					0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)		AGGATGTCCTCGAAGGTTGCG	0.657													T	140347017	C	T	140347017	3	4	16	1	0	0	0	0	1	0	0	0	10332	893	31	1	463	1	NELF	9	140347017	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	15289	140347017	866414	766	13088											
PNPLA7	375775	broad.mit.edu	37	chr9	140392668	140392668	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtgtgcgccacacccAggacgacggtcggctgcttc	12	16	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:140392668A>G	uc004cnf.2	-	16	2049	c.1712T>C	c.(1711-1713)CTG>CCG	p.L571P	C9orf167_uc011mew.1_Intron|PNPLA7_uc011mfa.1_Intron|PNPLA7_uc010ncj.1_Missense_Mutation_p.L596P	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	571	cNMP 2.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CGCCACACCCAGGACGACGGT	0.637													G	140392668	A	G	140392668	3	3	16	1	0	0	0	0	1	0	0	0	12170	188	7	3	2317	3	PNPLA7	9	140392668	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	45651	140392668	820763	767	13089											
EHMT1	79813	broad.mit.edu	37	chr9	140676805	140676805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgctctccactgcacgccGcggcagaggctggacacgtg	14	15	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr9:140676805G>A	uc011mfc.1	+	15	2375	c.2338G>A	c.(2338-2340)GCG>ACG	p.A780T	EHMT1_uc004coa.2_Missense_Mutation_p.A780T|EHMT1_uc004cob.1_Missense_Mutation_p.A749T	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	780	ANK 2.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACTGCACGCCGCGGCAGAGGC	0.522													A	140676805	G	A	140676805	3	1	16	1	0	0	0	0	1	0	0	0	4983	1087	38	1	2396	1	EHMT1	9	140676805	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	284137	140676805	536626	768	13090											
LARP4B	23185	broad.mit.edu	37	chr10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-													agataagcagaattccaatgTttttttaagtacttctcggg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:890939delT	uc001ifs.1	-	5	528	c.487delA	c.(487-489)ACAfs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	163	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						AATTCCAATGTTTTTTTAAGT	0.353													-	890939	T	-	890939	7	5	16	1	0	1	0	1	0	0	0	0	8631	1725	60	0	1781	0	LARP4B	10	890939	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08		890939	134643808	769	13091											
IDI1	3422	broad.mit.edu	37	chr10	1087271	1087272	+	Frame_Shift_Ins	INS	-	-	T													ctgcttttttcagaagttctINStttagttcttcctttgacac							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:1087270_1087271C>CT	uc001iga.3	-	4	829_830	c.711_712G>AG	c.(709-714)aaagaafs	p.K237fs	IDI2-AS1_uc010qaf.1_Intron|IDI2-AS1_uc001ifx.3_Intron|IDI2-AS1_uc001ifw.3_Intron|IDI2-AS1_uc001ify.3_Intron|IDI1_uc001ifz.3_Frame_Shift_Ins_p.K181fs|IDI1_uc001igb.3_Non-coding_Transcript|IDI1_uc001igc.3_Frame_Shift_Ins_p.K181fs	NM_004508	NP_004499	Q13907	IDI1_HUMAN	Homo sapiens isopentenyl-diphosphate delta isomerase 1 (IDI1), mRNA.	180					carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		TTCAGAAGTTCTTTTAGTTCTT	0.327													T	1087272	-	T	1087271	7	5	16	1	0	1	1	0	0	0	0	0	7499	1606	56	0	147	0	IDI1	10	1087271	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	196332	1087271	134447476	770	13092											
PFKP	5214	broad.mit.edu	37	chr10	3155672	3155672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgacggccacaggatgctcGccatctatgatggctttgac	11	13	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:3155672G>A	uc001igp.2	+	13	1369	c.1333G>A	c.(1333-1335)GCC>ACC	p.A445T	PFKP_uc001igq.2_Missense_Mutation_p.A437T|PFKP_uc009xhr.2_Missense_Mutation_p.A407T|PFKP_uc009xhs.1_Missense_Mutation_p.A229T|PFKP_uc009xht.2_Missense_Mutation_p.A183T|PFKP_uc009xhu.2_5'UTR	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	445					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CAGGATGCTCGCCATCTATGA	0.642													A	3155672	G	A	3155672	3	1	16	1	0	0	0	0	1	0	0	0	11766	1087	38	1	1383	1	PFKP	10	3155672	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2068401	3155672	132379075	771	13093											
ITIH5	80760	broad.mit.edu	37	chr10	7608295	7608295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaggatggtgatagtgCgcaagtaagtgcgctgtttc	15	5	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:7608295C>T	uc001ijq.2	-	13	2304	c.2225G>A	c.(2224-2226)CGC>CAC	p.R742H	ITIH5_uc001ijp.2_Missense_Mutation_p.R528H	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	742					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						GGTGATAGTGCGCAAGTAAGT	0.532													T	7608295	C	T	7608295	3	4	16	1	0	0	0	0	1	0	0	0	7907	768	27	1	653	1	ITIH5	10	7608295	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	4452623	7608295	127926452	772	13094											
ITIH5	80760	broad.mit.edu	37	chr10	7627891	7627891	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggtgacatatggtgaatgtAcactttcccatccctgatgc	10	10	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:7627891A>T	uc001ijq.2	-	8	1160	c.1081T>A	c.(1081-1083)TAC>AAC	p.Y361N	ITIH5_uc001ijp.2_Missense_Mutation_p.Y147N|ITIH5_uc001ijr.1_Missense_Mutation_p.Y361N	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	361	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						TGGTGAATGTACACTTTCCCA	0.383													T	7627891	A	T	7627891	3	4	16	1	0	0	0	0	1	0	0	0	7907	391	14	5	1898	5	ITIH5	10	7627891	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	19596	7627891	127906856	773	13095											
KIN	22944	broad.mit.edu	37	chr10	7817765	7817765	+	Splice_Site	DEL	A	A	-													cgtaaaagtagggacctcctAaaaaaaagaaagttttaagg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:7817764_7817764TA>T	uc001ijt.3	-	6	653	c.559_splice	c.e6-1	p.E187_splice	KIN_uc010qaz.2_Splice_Site|KIN_uc010qba.2_Splice_Site_p.E81_splice	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	187					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGACCTCCTAAAAAAAAGA	0.318													-	7817765	A	-	7817765	8	5	16	1	0	1	0	1	0	0	1	0	8315	377	13	0		0	KIN	10	7817765	Splice_Site	DEL	A	TCGA-BR-4292-01A-01D-1126-08	189874	7817765	127716982	774	13096											
GATA3	2625	broad.mit.edu	37	chr10	8115780	8115780	+	Frame_Shift_Del	DEL	A	A	-													ctagcaaatccaaaaagtgcAaaaaagtgcatgactcactg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:8115779_8115779CA>C	uc001ijz.3	+	5	1685	c.1128_1128CA>C	c.(1126-1128)tgcfs	p.C376fs	GATA3_uc001ika.3_Frame_Shift_Del_p.C375fs	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	375					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCAAAAAGTGCAAAAAAGTGC	0.463			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						-	8115780	A	-	8115780	7	5	16	1	0	1	0	1	0	0	0	0	6255	131	5	0	1147	0	GATA3	10	8115780	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	298015	8115780	127418967	775	13097											
UPF2	26019	broad.mit.edu	37	chr10	11990443	11990443	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccccaccttcttcttcttcTtcatcctcttcaagattttc	2	16	7	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:11990443T>A	uc001ila.2	-	15	3573	c.3099A>T	c.(3097-3099)GAA>GAT	p.E1033D	UPF2_uc001ilb.2_Missense_Mutation_p.E1033D|UPF2_uc001ilc.2_Missense_Mutation_p.E1033D	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	1033	Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				cttcttcttcttcatcctctt	0.154													A	11990443	T	A	11990443	3	1	16	1	0	0	0	0	1	0	0	0	17001	1606	56	5	747	5	UPF2	10	11990443	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	3874663	11990443	123544304	776	13098											
UPF2	26019	broad.mit.edu	37	chr10	12070898	12070898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcaaattaaacttctctgCagcactctttactttccttg	3	12	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:12070898C>T	uc001ila.2	-	2	1465	c.991G>A	c.(991-993)GCA>ACA	p.A331T	UPF2_uc001ilb.2_Missense_Mutation_p.A331T|UPF2_uc001ilc.2_Missense_Mutation_p.A331T|UPF2_uc009xiz.1_Missense_Mutation_p.A331T	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	331	MIF4G 1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				AACTTCTCTGCAGCACTCTTT	0.403													T	12070898	C	T	12070898	3	4	16	1	0	0	0	0	1	0	0	0	17001	710	25	2	2907	2	UPF2	10	12070898	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	80455	12070898	123463849	777	13099											
CUBN	8029	broad.mit.edu	37	chr10	16893340	16893340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtgcaattatgatccatAcacagtttaaattcttgtca	6	8	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:16893340A>G	uc001ioo.2	-	60	9609	c.9557T>C	c.(9556-9558)GTA>GCA	p.V3186A	CUBN_uc009xjq.1_RNA	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3186	CUB 24.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATGATCCATACACAGTTTAA	0.398													G	16893340	A	G	16893340	3	3	16	1	0	0	0	0	1	0	0	0	4051	391	14	3	1346	3	CUBN	10	16893340	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	4822442	16893340	118641407	778	13100											
CUBN	8029	broad.mit.edu	37	chr10	17147455	17147455	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaaaaacaaaggactcaCgatgcattgtccatttagac	8	9	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:17147455C>T	uc001ioo.2	-	11	1282	c.1230_splice	c.e11+1	p.I410_splice		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor						cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAGGACTCACGATGCATTGT	0.418													T	17147455	C	T	17147455	5	4	16	1	0	0	0	0	0	0	1	0	4051	550	19	1	9868	1	CUBN	10	17147455	Splice_Site	SNP	C	TCGA-BR-4292-01A-01D-1126-08	254115	17147455	118387292	779	13101											
VIM	7431	broad.mit.edu	37	chr10	17278320	17278320	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggattcactccctctggTtgatacccactcaaaaagga	7	12	4	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:17278320T>C	uc001iou.2	+	9	1714	c.1301T>C	c.(1300-1302)GTT>GCT	p.V434A	VIM_uc001iov.1_Intron|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.V434A|VIM_uc001ioy.1_Missense_Mutation_p.V347A|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.V392A|VIM_uc001ipc.1_Intron	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	434	Tail.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CTCCCTCTGGTTGATACCCAC	0.363													C	17278320	T	C	17278320	3	2	16	1	0	0	0	0	1	0	0	0	17163	1725	60	3	1331	3	VIM	10	17278320	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	130865	17278320	118256427	780	13102											
CACNB2	783	broad.mit.edu	37	chr10	18828599	18828600	+	Frame_Shift_Ins	INS	-	-	A													aggatggagaagtgatatcaINSaaaaaacggaatgaggctgg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:18828598_18828599C>CA	uc001ipr.2	+	13	1988_1989	c.1928_1929C>CA	c.(1927-1929)tcafs	p.S643fs	CACNB2_uc001ipt.2_Frame_Shift_Ins_p.S605fs|CACNB2_uc009xjz.1_Frame_Shift_Ins_p.S393fs|CACNB2_uc001ips.2_Frame_Shift_Ins_p.S619fs|CACNB2_uc001ipu.3_Frame_Shift_Ins_p.S615fs|CACNB2_uc001ipv.3_Frame_Shift_Ins_p.S591fs|CACNB2_uc009xka.2_Frame_Shift_Ins_p.S577fs|CACNB2_uc001ipw.2_Frame_Shift_Ins_p.S550fs|CACNB2_uc001ipx.2_Frame_Shift_Ins_p.S588fs|CACNB2_uc001ipz.2_Frame_Shift_Ins_p.S565fs|CACNB2_uc001ipy.2_Frame_Shift_Ins_p.S589fs|CACNB2_uc010qco.1_Frame_Shift_Ins_p.S557fs|CACNB2_uc001iqa.2_Frame_Shift_Ins_p.S595fs|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	643					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GAAGTGATATCAAAAAAACGGA	0.45													A	18828600	-	A	18828599	7	5	16	1	0	1	1	0	0	0	0	0	2553	117	5	0	2293	0	CACNB2	10	18828599	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1550279	18828599	116706148	781	13103											
PIP4K2A	5305	broad.mit.edu	37	chr10	22830828	22830828	+	Frame_Shift_Del	DEL	G	G	-													gtgtattcccggggctatctGggggggttcccaccgggtgg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:22830827_22830827TG>T	uc001irl.4	-	7	1190	c.942_942CA>A	c.(940-942)ccafs	p.P314fs	PIP4K2A_uc010qcu.2_Frame_Shift_Del_p.P174fs	NM_005028	NP_005019	P48426	PI42A_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP4K2A), mRNA.	314	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CGGGGCTATCTGGGGGGGTTC	0.582													-	22830828	G	-	22830828	7	5	16	1	0	1	0	1	0	0	0	0	11936	1348	47	0	291	0	PIP4K2A	10	22830828	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	4002229	22830828	112703919	782	13104											
GPR158	57512	broad.mit.edu	37	chr10	25887748	25887748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagcaatccaatcagaagCgcatagataaggctgaagta	10	8	2	3	rs146528842		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:25887748C>T	uc001isj.2	+	11	3253	c.3193C>T	c.(3193-3195)CGC>TGC	p.R1065C	GPR158_uc001isk.2_Missense_Mutation_p.R440C	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	1065	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						CAATCAGAAGCGCATAGATAA	0.458													T	25887748	C	T	25887748	3	4	16	1	0	0	0	0	1	0	0	0	6663	768	27	1	3235	1	GPR158	10	25887748	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3056920	25887748	109646999	783	13105											
GPR158	57512	broad.mit.edu	37	chr10	25887916	25887917	+	Frame_Shift_Ins	INS	-	-	C													tgggcagagcgaagaactgcINScccccaaagctgtagcatca					rs147989919	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:25887915_25887916G>GC	uc001isj.3	+	10	3420_3421	c.3360_3361G>GC	c.(3358-3363)ctgcccfs	p.L1120fs	GPR158_uc001isk.3_Frame_Shift_Ins_p.L495fs	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	1120						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCGAAGAACTGCCCCCCAAAGC	0.485													C	25887917	-	C	25887916	7	5	16	1	0	1	1	0	0	0	0	0	6663	739	26	0	3403	0	GPR158	10	25887916	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	168	25887916	109646831	784	13106											
ANKRD26	22852	broad.mit.edu	37	chr10	27295869	27295869	+	Frame_Shift_Del	DEL	T	T	-													ctttgagttctctagttataTttttttccaactcctgctgc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:27295868_27295868AT>A	uc009xku.1	-	32	5149	c.4977_4977AT>T	c.(4975-4977)aatfs	p.N1659fs	ANKRD26_uc001itg.2_Frame_Shift_Del_p.N1345fs|ANKRD26_uc001ith.2_Frame_Shift_Del_p.N1658fs	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	1658						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CTCTAGTTATATTTTTTTCCA	0.274													-	27295869	T	-	27295869	7	5	16	1	0	1	0	1	0	0	0	0	654	1493	52	0	164	0	ANKRD26	10	27295869	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	1407953	27295869	108238878	785	13107											
MASTL	84930	broad.mit.edu	37	chr10	27459254	27459254	+	Frame_Shift_Del	DEL	A	A	-													tggttgactccagtccttgtAaaaaaattatacagaataaa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:27459254delA	uc001itm.2	+	8	2005	c.1366delA	c.(1366-1368)AAAfs	p.K456fs	MASTL_uc001itl.2_Frame_Shift_Del_p.K456fs|MASTL_uc009xkw.1_Frame_Shift_Del_p.K456fs|MASTL_uc009xkx.1_RNA	NM_032844	NP_116233	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine	456	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						CAGTCCTTGTAAAAAAATTAT	0.338													-	27459254	A	-	27459254	7	5	16	1	0	1	0	1	0	0	0	0	9328	363	13	0	1396	0	MASTL	10	27459254	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	163385	27459254	108075493	786	13108											
SVIL	6840	broad.mit.edu	37	chr10	29839766	29839766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgttcagcagcacctccGggtcggaagagccgtcaccc	11	15	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:29839766G>A	uc001iut.1	-	6	1340	c.587C>T	c.(586-588)CCG>CTG	p.P196L	SVIL_uc001iuu.1_Missense_Mutation_p.P196L|SVIL_uc009xld.1_Missense_Mutation_p.P196L	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	196					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				CAGCACCTCCGGGTCGGAAGA	0.612													A	29839766	G	A	29839766	3	1	16	1	0	0	0	0	1	0	0	0	15418	1116	39	1	6189	1	SVIL	10	29839766	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2380512	29839766	105694981	787	13109											
ZNF33A	7581	broad.mit.edu	37	chr10	38344404	38344404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgtggaaaatccttccGtgtgacttcgcaccttaaag	9	9	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:38344404G>A	uc001izh.2	+	5	1527	c.1349G>A	c.(1348-1350)CGT>CAT	p.R450H	ZNF33A_uc001izg.2_Missense_Mutation_p.R451H|ZNF33A_uc010qev.1_Missense_Mutation_p.R457H|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	450	C2H2-type 5.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						AAATCCTTCCGTGTGACTTCG	0.408													A	38344404	G	A	38344404	3	1	16	1	0	0	0	0	1	0	0	0	17851	1145	40	1	1366	1	ZNF33A	10	38344404	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	8504638	38344404	97190343	788	13110											
SLC18A3	6572	broad.mit.edu	37	chr10	50819067	50819067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaatgccagcgcctacaCggccaacacctcggcgtccc	10	19	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:50819067C>T	uc001jhw.2	+	1	721	c.281C>T	c.(280-282)ACG>ATG	p.T94M	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	94	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						AGCGCCTACACGGCCAACACC	0.726													T	50819067	C	T	50819067	3	4	16	1	0	0	0	0	1	0	0	0	14427	536	19	1	283	1	SLC18A3	10	50819067	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	12474663	50819067	84715680	789	13111											
PCDH15	65217	broad.mit.edu	37	chr10	55782869	55782869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcactgctgtgtaaatgCtcccattggatgtgatacga	10	9	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:55782869C>T	uc001jju.1	-	19	2704	c.2309G>A	c.(2308-2310)AGC>AAC	p.S770N	PCDH15_uc010qhq.1_Missense_Mutation_p.S775N|PCDH15_uc010qhr.1_Missense_Mutation_p.S770N|PCDH15_uc010qhs.1_Missense_Mutation_p.S782N|PCDH15_uc010qht.1_Missense_Mutation_p.S777N|PCDH15_uc010qhu.1_Missense_Mutation_p.S770N|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.S770N|PCDH15_uc010qhw.1_Missense_Mutation_p.S733N|PCDH15_uc010qhx.1_Missense_Mutation_p.S699N|PCDH15_uc010qhy.1_Missense_Mutation_p.S775N|PCDH15_uc010qhz.1_Missense_Mutation_p.S770N|PCDH15_uc010qia.1_Missense_Mutation_p.S748N|PCDH15_uc010qib.1_Missense_Mutation_p.S748N|PCDH15_uc001jjw.2_Missense_Mutation_p.S770N	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	770	Extracellular (Potential).|Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TGTGTAAATGCTCCCATTGGA	0.403										HNSCC(58;0.16)			T	55782869	C	T	55782869	3	4	16	1	0	0	0	0	1	0	0	0	11511	797	28	2	5237	2	PCDH15	10	55782869	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	4963802	55782869	79751878	790	13112											
FAM13C	220965	broad.mit.edu	37	chr10	61029761	61029761	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcgtggcgacagcagtgggTtatcaccatcagtgatgtga	13	8	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:61029761T>G	uc001jkn.2	-	8	835	c.701A>C	c.(700-702)AAC>ACC	p.N234T	FAM13C_uc001jko.2_Missense_Mutation_p.N234T|FAM13C_uc010qid.1_Missense_Mutation_p.N151T|FAM13C_uc010qie.1_Missense_Mutation_p.N151T|FAM13C_uc010qif.1_Missense_Mutation_p.N256T|FAM13C_uc001jkp.2_Missense_Mutation_p.N151T	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	234										ovary(2)	2						CAGCAGTGGGTTATCACCATC	0.552													G	61029761	T	G	61029761	3	3	16	1	0	0	0	0	1	0	0	0	5454	1725	60	5	1088	5	FAM13C	10	61029761	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	5246892	61029761	74504986	791	13113											
ANK3	288	broad.mit.edu	37	chr10	61835974	61835974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaactgaagatgtagttgaCgcgcctaatgtggatttgat	11	5	0	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:61835974C>T	uc001jky.2	-	37	4857	c.4665G>A	c.(4663-4665)GCG>GCA	p.A1555A	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1555	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						ATGTAGTTGACGCGCCTAATG	0.418													T	61835974	C	T	61835974	2	4	16	1	0	0	0	0	0	0	0	1	622	523	19	1		1	ANK3	10	61835974	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	806213	61835974	73698773	792	13114											
JMJD1C	221037	broad.mit.edu	37	chr10	64950825	64950828	+	Frame_Shift_Del	DEL	TCTT	TCTT	-													gattcagagttgtcttgttcTctttcttctttaatttggtt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:64950824_64950827CTCTT>C	uc001jmn.3	-	16	6418_6421	c.6118_6121AAGAG>G	c.(6118-6123)agagaafs	p.R2040fs	JMJD1C_uc001jml.3_Frame_Shift_Del_p.R1803fs|JMJD1C_uc001jmm.3_Frame_Shift_Del_p.R1752fs|JMJD1C_uc010qiq.2_Frame_Shift_Del_p.R1858fs|JMJD1C_uc009xpi.3_Frame_Shift_Del_p.R1858fs|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmo.3_5'UTR	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	2040					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTGTCTTGTTCTCTTTCTTCTTTA	0.368													-	64950828	TCTT	-	64950825	7	5	16	1	0	1	0	1	0	0	0	0	7950	1548	54	0	1542	0	JMJD1C	10	64950825	Frame_Shift_Del	DEL	TCTT	TCGA-BR-4292-01A-01D-1126-08	3114851	64950825	70583922	793	13115											
SIRT1	23411	broad.mit.edu	37	chr10	69676036	69676036	+	Frame_Shift_Del	DEL	T	T	-													tttcaggtaatcagtatctgTttttgccaccaaatcgttac							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:69676036delT	uc001jnd.2	+	9	1983	c.1930delT	c.(1930-1932)TTTfs	p.F644fs	SIRT1_uc010qis.1_Frame_Shift_Del_p.F349fs|SIRT1_uc009xpp.2_Frame_Shift_Del_p.F452fs|SIRT1_uc001jne.2_Frame_Shift_Del_p.F341fs	NM_012238	NP_036370	Q96EB6	SIRT1_HUMAN	sirtuin 1 isoform a	644					apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding				0						TCAGTATCTGTTTTTGCCACC	0.393													-	69676036	T	-	69676036	7	5	16	1	0	1	0	1	0	0	0	0	14337	1725	60	0	1964	0	SIRT1	10	69676036	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	4725211	69676036	65858711	794	13116											
MYPN	84665	broad.mit.edu	37	chr10	69881820	69881822	+	In_Frame_Del	DEL	TCT	TCT	-													tgtcagaaagacgagaaagaTcttctgttcccatccctatc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:69881820_69881822delTCT	uc001jnm.3	+	3	810_812	c.625_627delTCT	c.(625-627)TCTdel	p.S210del	MYPN_uc001jnl.1_In_Frame_Del_p.S210del|MYPN_uc001jnn.3_Intron|MYPN_uc001jno.3_In_Frame_Del_p.S210del|MYPN_uc001jnp.1_In_Frame_Del_p.S210del|MYPN_uc009xps.2_In_Frame_Del_p.S210del|MYPN_uc009xpt.2_In_Frame_Del_p.S210del|MYPN_uc010qit.1_5'UTR|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	210	Interaction with CARP.					nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						ACGAGAAAGATCTTCTGTTCCCA	0.488													-	69881822	TCT	-	69881820	7	5	16	1	0	1	0	1	0	0	0	0	10098	1435	50	0	627	0	MYPN	10	69881820	In_Frame_Del	DEL	TCT	TCGA-BR-4292-01A-01D-1126-08	205784	69881820	65652927	795	13117											
TET1	80312	broad.mit.edu	37	chr10	70450964	70450964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtgactgagccgctaaCgcctcatcagccaaaccacc	9	15	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:70450964C>T	uc001jok.3	+	12	6309	c.5804C>T	c.(5803-5805)ACG>ATG	p.T1935M		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1935					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						GAGCCGCTAACGCCTCATCAG	0.552													T	70450964	C	T	70450964	3	4	16	1	0	0	0	0	1	0	0	0	15766	536	19	1	5846	1	TET1	10	70450964	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	569144	70450964	65083783	796	13118											
SRGN	5552	broad.mit.edu	37	chr10	70856875	70856875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccaggtaccaatgggtgCgctgcaatccagacagtaat	12	10	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:70856875C>T	uc001joz.2	+	2	201	c.115C>T	c.(115-117)CGC>TGC	p.R39C		NM_002727	NP_002718	P10124	SRGN_HUMAN	serglycin precursor	39					apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage	extracellular space|mast cell granule|platelet alpha granule lumen					0						CCAATGGGTGCGCTGCAATCC	0.483													T	70856875	C	T	70856875	3	4	16	1	0	0	0	0	1	0	0	0	15147	768	27	1	121	1	SRGN	10	70856875	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	405911	70856875	64677872	797	13119											
HK1	3098	broad.mit.edu	37	chr10	71124621	71124621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagttacctgtgggattcaCgttttcttttccttgccaac	8	10	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:71124621C>T	uc001jpl.3	+	4	559	c.458C>T	c.(457-459)ACG>ATG	p.T153M	HK1_uc001jpg.3_Missense_Mutation_p.T141M|HK1_uc001jph.3_Missense_Mutation_p.T157M|HK1_uc001jpi.3_Missense_Mutation_p.T157M|HK1_uc001jpj.3_Missense_Mutation_p.T188M|HK1_uc001jpk.3_Missense_Mutation_p.T152M|HK1_uc009xqd.2_Missense_Mutation_p.T31M	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	153	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						GTGGGATTCACGTTTTCTTTT	0.453													T	71124621	C	T	71124621	3	4	16	1	0	0	0	0	1	0	0	0	7190	536	19	1	650	1	HK1	10	71124621	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	267746	71124621	64410126	798	13120											
HK1	3098	broad.mit.edu	37	chr10	71142254	71142254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccataaggtattcccggcGtttccacaagactctaaggc	8	14	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:71142254G>A	uc001jpl.3	+	10	1378	c.1277G>A	c.(1276-1278)CGT>CAT	p.R426H	HK1_uc001jpg.3_Missense_Mutation_p.R414H|HK1_uc001jph.3_Missense_Mutation_p.R430H|HK1_uc001jpi.3_Missense_Mutation_p.R430H|HK1_uc001jpj.3_Missense_Mutation_p.R461H|HK1_uc001jpk.3_Missense_Mutation_p.R425H|HK1_uc009xqd.2_Missense_Mutation_p.R304H	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	426	ATP 1.|Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						TATTCCCGGCGTTTCCACAAG	0.592													A	71142254	G	A	71142254	3	1	16	1	0	0	0	0	1	0	0	0	7190	1145	40	1	1493	1	HK1	10	71142254	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	17633	71142254	64392493	799	13121											
CDH23	64072	broad.mit.edu	37	chr10	73491893	73491893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgtcggccactgaccagGccccgcccttcaaccagggc	11	17	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:73491893G>A	uc001jrx.3	+	31	4242	c.3865G>A	c.(3865-3867)GCC>ACC	p.A1289T	CDH23_uc001jrz.2_Missense_Mutation_p.A905T|C10orf105_uc001jsb.1_Intron|CDH23_uc001jsc.1_Missense_Mutation_p.A97T	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1289	Cadherin 12.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CACTGACCAGGCCCCGCCCTT	0.552													A	73491893	G	A	73491893	3	1	16	1	0	0	0	0	1	0	0	0	3108	1203	42	2	4294	2	CDH23	10	73491893	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2349639	73491893	62042854	800	13122											
CDH23	64072	broad.mit.edu	37	chr10	73572286	73572286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggaacctggagctggccGcccaggcggagcatgaggat	17	11	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:73572286G>A	uc001jrx.3	+	65	9807	c.9430G>A	c.(9430-9432)GCC>ACC	p.A3144T	CDH23_uc001jsg.3_Missense_Mutation_p.A904T|CDH23_uc001jsh.3_Missense_Mutation_p.A904T|CDH23_uc001jsi.3_Missense_Mutation_p.A904T|CDH23_uc001jsj.3_Missense_Mutation_p.A41T|CDH23_uc010qjr.1_Missense_Mutation_p.A41T	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	3144	Cytoplasmic (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GGAGCTGGCCGCCCAGGCGGA	0.642													A	73572286	G	A	73572286	3	1	16	1	0	0	0	0	1	0	0	0	3108	1087	38	1	10112	1	CDH23	10	73572286	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	80393	73572286	61962461	801	13123											
ZMIZ1	57178	broad.mit.edu	37	chr10	80968205	80968205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcctgatgggctgtttgaCggtgagtctgcaccctgtcc	14	11	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:80968205C>T	uc001kaf.2	+	6	745	c.173C>T	c.(172-174)ACG>ATG	p.T58M	ZMIZ1_uc001kae.2_Missense_Mutation_p.T58M	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	58					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GGCTGTTTGACGGTGAGTCTG	0.622													T	80968205	C	T	80968205	3	4	16	1	0	0	0	0	1	0	0	0	17693	550	19	1	179	1	ZMIZ1	10	80968205	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	7395919	80968205	54566542	802	13124											
CDHR1	92211	broad.mit.edu	37	chr10	85968128	85968128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatcaccgtcaatgactccGaccaggtgtgtggtcctgcc	11	13	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:85968128G>A	uc001kcv.2	+	11	1162	c.1162G>A	c.(1162-1164)GAC>AAC	p.D388N	CDHR1_uc001kcw.2_Missense_Mutation_p.D388N|CDHR1_uc009xst.2_Missense_Mutation_p.D147N	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	388	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						CAATGACTCCGACCAGGTGTG	0.572													A	85968128	G	A	85968128	3	1	16	1	0	0	0	0	1	0	0	0	3118	1058	37	1	1204	1	CDHR1	10	85968128	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	4999923	85968128	49566619	803	13125											
CDHR1	92211	broad.mit.edu	37	chr10	85970853	85970853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgacaatgtccccaagttcGactccctctactacgttgcc	6	15	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:85970853G>A	uc001kcv.2	+	13	1417	c.1417G>A	c.(1417-1419)GAC>AAC	p.D473N	CDHR1_uc001kcw.2_Missense_Mutation_p.D473N|CDHR1_uc009xst.2_Intron|CDHR1_uc001kcx.2_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	473	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						CCCCAAGTTCGACTCCCTCTA	0.592													A	85970853	G	A	85970853	3	1	16	1	0	0	0	0	1	0	0	0	3118	1058	37	1	1467	1	CDHR1	10	85970853	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2725	85970853	49563894	804	13126											
LDB3	11155	broad.mit.edu	37	chr10	88428474	88428474	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttacagtgtgaccctgactgGgcccgggccctggggcttcc	14	14	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:88428474G>T	uc001kdv.2	+	1	49	c.26G>T	c.(25-27)GGG>GTG	p.G9V	LDB3_uc010qml.1_Missense_Mutation_p.G9V|LDB3_uc010qmm.1_Missense_Mutation_p.G9V|LDB3_uc001kdu.2_Missense_Mutation_p.G9V|LDB3_uc009xsz.2_5'UTR|LDB3_uc001kdr.2_Missense_Mutation_p.G9V|LDB3_uc009xsy.2_Missense_Mutation_p.G9V|LDB3_uc001kds.2_Missense_Mutation_p.G9V|LDB3_uc001kdt.2_RNA	NM_007078	NP_009009	O75112	LDB3_HUMAN	LIM domain binding 3 isoform 1	9	PDZ.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			ovary(1)	1						ACCCTGACTGGGCCCGGGCCC	0.642													T	88428474	G	T	88428474	3	4	16	1	0	0	0	0	1	0	0	0	8697	1232	43	5	28	5	LDB3	10	88428474	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2457621	88428474	47106273	805	13127											
MMRN2	79812	broad.mit.edu	37	chr10	88703011	88703011	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccagggcacgcgtggcGtccctctggccctcccggat	12	18	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:88703011G>A	uc001kea.2	-	6	1657	c.1530C>T	c.(1528-1530)GAC>GAT	p.D510D	MMRN2_uc010qmn.1_Silent_p.D153D|MMRN2_uc009xtb.2_Silent_p.D467D	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	510						extracellular space				large_intestine(1)	1						CACGCGTGGCGTCCCTCTGGC	0.652													A	88703011	G	A	88703011	2	1	16	1	0	0	0	0	0	0	0	1	9671	1136	40	1		1	MMRN2	10	88703011	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	274537	88703011	46831736	806	13128											
AGAP11	119385	broad.mit.edu	37	chr10	88768422	88768422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgggaaatggctgaagaCatggaaaaagaaatatgtca	12	3	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:88768422C>T	uc001kee.2	+	12	1617	c.413C>T	c.(412-414)ACA>ATA	p.T138I	AGAP11_uc001kef.2_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase	138	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						TGGCTGAAGACATGGAAAAAG	0.448													T	88768422	C	T	88768422	3	4	16	1	0	0	0	0	1	0	0	0	367	478	17	4	427	4	AGAP11	10	88768422	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	65411	88768422	46766325	807	13129											
ANKRD22	118932	broad.mit.edu	37	chr10	90591679	90591679	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaagcacagatcaggggCgtgtctccattaaagccatc	10	12	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:90591679C>T	uc001kfj.3	-	2	494	c.126G>A	c.(124-126)ACG>ACA	p.T42T		NM_144590	NP_653191	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	42	ANK 1.										0		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		AGATCAGGGGCGTGTCTCCAT	0.483													T	90591679	C	T	90591679	2	4	16	1	0	0	0	0	0	0	0	1	651	755	27	1		1	ANKRD22	10	90591679	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1823257	90591679	44943068	808	13130											
ACTA2	59	broad.mit.edu	37	chr10	90701549	90701549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagccacctaccagttgtGcgtccagaggcatagagaga	11	13	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:90701549G>A	uc001kfp.2	-	5	563	c.447C>T	c.(445-447)CGC>CGT	p.R149R	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Silent_p.R104R|ACTA2_uc001kfq.2_Silent_p.R149R	NM_001613	NP_001604	P62736	ACTA_HUMAN	alpha 2 actin	149			R -> C (in AAT6).		response to virus	cytosol	ATP binding				0		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TACCAGTTGTGCGTCCAGAGG	0.542													A	90701549	G	A	90701549	2	1	16	1	0	0	0	0	0	0	0	1	192	1306	46	2		2	ACTA2	10	90701549	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	109870	90701549	44833198	809	13131											
KIF20B	9585	broad.mit.edu	37	chr10	91483767	91483767	+	Frame_Shift_Del	DEL	A	A	-													gaaaaaaaaactgataaatgAaaaaaaggaaaaattaacct							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:91483767delA	uc001kgs.1	+	14	1841	c.1769delA	c.(1768-1770)GAAfs	p.E590fs	KIF20B_uc001kgr.1_Frame_Shift_Del_p.E590fs|KIF20B_uc001kgt.1_5'UTR	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	590	Potential.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3						CTGATAAATGAAAAAAAGGAA	0.284													-	91483767	A	-	91483767	7	5	16	1	0	1	0	1	0	0	0	0	8287	246	9	0	1819	0	KIF20B	10	91483767	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	782218	91483767	44050980	810	13132											
KIF20B	9585	broad.mit.edu	37	chr10	91483813	91483813	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaaaattcgagaagaagtTacacaggagtttactcagta	8	5	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:91483813T>C	uc001kgs.1	+	14	1887	c.1815T>C	c.(1813-1815)GTT>GTC	p.V605V	KIF20B_uc001kgr.1_Silent_p.V605V|KIF20B_uc001kgt.1_5'UTR	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	605					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3						GAGAAGAAGTTACACAGGAGT	0.284													C	91483813	T	C	91483813	2	2	16	1	0	0	0	0	0	0	0	1	8287	1741	61	3		3	KIF20B	10	91483813	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	46	91483813	44050934	811	13133											
PCGF5	84333	broad.mit.edu	37	chr10	92982626	92982626	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccagtcttcactagccaCgaatggctacccaaaggaaa	8	12	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:92982626C>T	uc001khh.2	+	2	245	c.-2C>T	c.(-4-0)CACGA>CATGA		PCGF5_uc001khg.2_RNA|PCGF5_uc010qnk.1_Translation_Start_Site|PCGF5_uc001khi.2_Translation_Start_Site	NM_032373	NP_115749	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5						regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding			lung(1)	1						TCACTAGCCACGAATGGCTAC	0.458													T	92982626	C	T	92982626	1	4	16	1	0	0	0	0	0	0	0	0	11577	551	19	1		1	PCGF5	10	92982626	Translation_Start_Site	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1498813	92982626	42552121	812	13134											
BTAF1	9044	broad.mit.edu	37	chr10	93744029	93744029	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaacatttatattatgaCgaaattgccgttccattcac	5	9	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:93744029C>T	uc001khr.2	+	19	2393	c.2295C>T	c.(2293-2295)GAC>GAT	p.D765D	BTAF1_uc001khs.1_Silent_p.D435D|BTAF1_uc001kht.1_Silent_p.D203D	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	765					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				TATATTATGACGAAATTGCCG	0.348													T	93744029	C	T	93744029	2	4	16	1	0	0	0	0	0	0	0	1	1536	535	19	1		1	BTAF1	10	93744029	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	761403	93744029	41790718	813	13135											
MYOF	26509	broad.mit.edu	37	chr10	95069835	95069835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggataagcaggaacagcaagCcgatgatgacccacttaaag	11	9	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:95069835C>T	uc001kin.2	-	53	6212	c.6089G>A	c.(6088-6090)GGC>GAC	p.G2030D	MYOF_uc001kio.2_Missense_Mutation_p.G2017D|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	2030	Helical; (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						GAACAGCAAGCCGATGATGAC	0.542													T	95069835	C	T	95069835	3	4	16	1	0	0	0	0	1	0	0	0	10089	739	26	2	104	2	MYOF	10	95069835	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1325806	95069835	40464912	814	13136											
PDE6C	5146	broad.mit.edu	37	chr10	95394529	95394529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtagaaaggacctgtagaCgaaactggttgggtcattaa	12	5	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:95394529C>T	uc001kiu.3	+	9	1272	c.1134C>T	c.(1132-1134)GAC>GAT	p.D378D		NM_006204	NP_006195	P51160	PDE6C_HUMAN	phosphodiesterase 6C	378	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			ovary(2)|kidney(1)|skin(1)	4		Colorectal(252;0.123)				GACCTGTAGACGAAACTGGTT	0.303													T	95394529	C	T	95394529	2	4	16	1	0	0	0	0	0	0	0	1	11647	535	19	1		1	PDE6C	10	95394529	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	324694	95394529	40140218	815	13137											
SORBS1	10580	broad.mit.edu	37	chr10	97096789	97096789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactgatcgtggggtgggaCgatctgaccaactcaaatgg	13	9	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:97096789C>T	uc001kkp.2	-	28	3173	c.3128G>A	c.(3127-3129)CGT>CAT	p.R1043H	SORBS1_uc001kkk.2_Intron|SORBS1_uc001kkl.2_Intron|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Intron|SORBS1_uc001kkq.2_Intron|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Missense_Mutation_p.R997H|SORBS1_uc010qoe.1_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	1043					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TGGGGTGGGACGATCTGACCA	0.562													T	97096789	C	T	97096789	3	4	16	1	0	0	0	0	1	0	0	0	14927	536	19	1	830	1	SORBS1	10	97096789	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1702260	97096789	38437958	816	13138											
ALDH18A1	5832	broad.mit.edu	37	chr10	97397115	97397115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacagaaggatctcatggcGcaagcgttgtttgccaaagg	13	8	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:97397115G>A	uc001kkz.2	-	4	624	c.382C>T	c.(382-384)CGC>TGC	p.R128C	ALDH18A1_uc001kky.2_Missense_Mutation_p.R128C|ALDH18A1_uc010qog.1_Missense_Mutation_p.R17C|ALDH18A1_uc010qoh.1_Intron	NM_002860	NP_002851	P54886	P5CS_HUMAN	pyrroline-5-carboxylate synthetase isoform 1	128	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			pancreas(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	ATCTCATGGCGCAAGCGTTGT	0.547													A	97397115	G	A	97397115	3	1	16	1	0	0	0	0	1	0	0	0	489	1087	38	1	2065	1	ALDH18A1	10	97397115	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	300326	97397115	38137632	817	13139											
SLIT1	6585	broad.mit.edu	37	chr10	98764573	98764573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatcccattgtcctctgccGtggagacctgatgggcagtg	14	11	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:98764573G>A	uc001kmw.2	-	33	3839	c.3587C>T	c.(3586-3588)ACG>ATG	p.T1196M		NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	1196	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GTCCTCTGCCGTGGAGACCTG	0.602													A	98764573	G	A	98764573	3	1	16	1	0	0	0	0	1	0	0	0	14739	1145	40	1	1037	1	SLIT1	10	98764573	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1367458	98764573	36770174	818	13140											
RRP12	23223	broad.mit.edu	37	chr10	99141494	99141494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggctctgcgtagcagcaGtcagcacttgcgagtgtggg	16	9	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:99141494G>A	uc001knf.2	-	11	1437	c.1298C>T	c.(1297-1299)ACT>ATT	p.T433I	RRP12_uc009xvm.2_Missense_Mutation_p.T151I|RRP12_uc010qou.1_Missense_Mutation_p.T372I|RRP12_uc009xvn.2_Missense_Mutation_p.T333I	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	433						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CGTAGCAGCAGTCAGCACTTG	0.587													A	99141494	G	A	99141494	3	1	16	1	0	0	0	0	1	0	0	0	13686	1029	36	4	2691	4	RRP12	10	99141494	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	376921	99141494	36393253	819	13141											
DHDPSL	112817	broad.mit.edu	37	chr10	99358872	99358872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccacagtggagatgaccGtcagcatggcccaggtcggg	15	11	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:99358872G>A	uc001kny.2	+	3	726	c.367G>A	c.(367-369)GTC>ATC	p.V123I	DHDPSL_uc001knx.2_Missense_Mutation_p.V123I|DHDPSL_uc001knz.2_Intron|PI4K2A_uc010qoy.1_Intron	NM_138413	NP_612422	Q86XE5	HOGA1_HUMAN	DHDPS-like protein isoform 1	123					glyoxylate catabolic process	mitochondrion	4-hydroxy-2-oxoglutarate aldolase activity				0						GGAGATGACCGTCAGCATGGC	0.627													A	99358872	G	A	99358872	3	1	16	1	0	0	0	0	1	0	0	0	4480	1145	40	1	377	1	DHDPSL	10	99358872	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	217378	99358872	36175875	820	13142											
CRTAC1	55118	broad.mit.edu	37	chr10	99695979	99695979	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcctcccggccgtccccGtcgatgtcgcaggctgtgac	11	17	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:99695979G>A	uc001kou.1	-	3	725	c.369C>T	c.(367-369)GAC>GAT	p.D123D	CRTAC1_uc001kov.2_Silent_p.D112D|CRTAC1_uc001kot.1_Translation_Start_Site	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	123	FG-GAP 2; atypical.					proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GGCCGTCCCCGTCGATGTCGC	0.637													A	99695979	G	A	99695979	2	1	16	1	0	0	0	0	0	0	0	1	3896	1136	40	1		1	CRTAC1	10	99695979	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	337107	99695979	35838768	821	13143											
CNNM1	26507	broad.mit.edu	37	chr10	101090324	101090324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agataagcaccttctacacgCgggagaagttgctggagacg	13	9	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:101090324C>T	uc001kpp.3	+	1	1469	c.1180C>T	c.(1180-1182)CGG>TGG	p.R394W	CNNM1_uc009xwe.2_Missense_Mutation_p.R394W|CNNM1_uc010qpi.1_Missense_Mutation_p.R394W|CNNM1_uc009xwf.2_Missense_Mutation_p.R394W	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	394	DUF21.				ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CTTCTACACGCGGGAGAAGTT	0.647													T	101090324	C	T	101090324	3	4	16	1	0	0	0	0	1	0	0	0	3612	759	27	1	1182	1	CNNM1	10	101090324	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1394345	101090324	34444423	822	13144											
LBX1	10660	broad.mit.edu	37	chr10	102987489	102987489	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttggtgaaggccgtgcgCgactttcgccgcttcttagg	15	10	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:102987489C>T	uc001ksx.2	-	2	529	c.384G>A	c.(382-384)TCG>TCA	p.S128S	uc010qpy.1_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	ladybird homeobox 1	128	Homeobox.				muscle organ development		sequence-specific DNA binding				0		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		AGGCCGTGCGCGACTTTCGCC	0.587													T	102987489	C	T	102987489	2	4	16	1	0	0	0	0	0	0	0	1	8653	755	27	1		1	LBX1	10	102987489	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1897165	102987489	32547258	823	13145											
POLL	27343	broad.mit.edu	37	chr10	103340084	103340084	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtgagtgatgagcacgtcGacatcaccacaggtcgcctt	13	11	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:103340084G>A	uc001ktg.1	-	7	2050	c.1284C>T	c.(1282-1284)GTC>GTT	p.V428V	DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_Silent_p.V101V|POLL_uc001kte.1_Silent_p.V120V|POLL_uc001kth.1_Silent_p.V153V|POLL_uc001kti.1_Silent_p.V428V|POLL_uc001ktj.1_Silent_p.V428V|POLL_uc001ktf.2_Silent_p.V336V|POLL_uc001ktk.1_Silent_p.V167V|POLL_uc010qqa.1_Silent_p.V167V|POLL_uc010qqb.1_RNA|POLL_uc001ktm.2_Silent_p.V428V|POLL_uc001ktl.2_Silent_p.V340V|POLL_uc010qqc.1_Silent_p.V120V	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	DNA-directed DNA polymerase lambda	428	Involved in primer binding (By similarity).				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding				0		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		TGAGCACGTCGACATCACCAC	0.582								DNA_polymerases_(catalytic_subunits)					A	103340084	G	A	103340084	2	1	16	1	0	0	0	0	0	0	0	1	12205	1045	37	1		1	POLL	10	103340084	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	352595	103340084	32194663	824	13146											
LDB1	8861	broad.mit.edu	37	chr10	103871226	103871226	+	Frame_Shift_Del	DEL	G	G	-													agcatggtgccgggatggaaGgggggaaaggcgttgccgtt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:103871226delG	uc009xwz.2	-	2	436	c.93delC	c.(91-93)CCCfs	p.P31fs	LDB1_uc001kuk.3_5'UTR|LDB1_uc001kul.3_5'UTR	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN	LIM domain binding 1 isoform 1	31					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			large_intestine(1)	1		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		CGGGATGGAAGGGGGGAAAGG	0.537													-	103871226	G	-	103871226	7	5	16	1	0	1	0	1	0	0	0	0	8695	987	35	0	1182	0	LDB1	10	103871226	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	531142	103871226	31663521	825	13147											
CNNM2	54805	broad.mit.edu	37	chr10	104679333	104679333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccccaggccatctgctccCggcatggcctggctgtgggg	15	15	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:104679333C>T	uc001kwm.2	+	1	1220	c.1096C>T	c.(1096-1098)CGG>TGG	p.R366W	CNNM2_uc001kwn.2_Missense_Mutation_p.R366W|CNNM2_uc001kwl.2_Missense_Mutation_p.R366W	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	366	DUF21.				ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CATCTGCTCCCGGCATGGCCT	0.617													T	104679333	C	T	104679333	3	4	16	1	0	0	0	0	1	0	0	0	3613	643	23	1	1098	1	CNNM2	10	104679333	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	808107	104679333	30855414	826	13148											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105361883	105361883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagcccgttcggccaggCggcccttggcctcggcggca	16	16	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:105361883C>T	uc001kxj.1	-	14	3148	c.3008G>A	c.(3007-3009)CGC>CAC	p.R1003H	SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.R838H|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.R880H|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.R838H|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.R946H	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	1031					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TTCGGCCAGGCGGCCCTTGGC	0.682													T	105361883	C	T	105361883	3	4	16	1	0	0	0	0	1	0	0	0	14256	768	27	1	313	1	SH3PXD2A	10	105361883	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	682550	105361883	30172864	827	13149											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105363001	105363002	+	Frame_Shift_Ins	INS	-	-	G													acttgggggagcctgatttgINSggggagtttttcctggtcag					rs11818820		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:105363000_105363001T>TG	uc010qqu.1	-	11	1786_1787	c.1719_1720A>CA	c.(1717-1722)cccaaafs	p.P573fs	SH3PXD2A_uc010qqr.2_Intron|SH3PXD2A_uc010qqs.1_Frame_Shift_Ins_p.P465fs|SH3PXD2A_uc010qqt.1_Frame_Shift_Ins_p.P507fs|SH3PXD2A_uc009xxn.1_Frame_Shift_Ins_p.P465fs|SH3PXD2A_uc001kxj.1_Frame_Shift_Ins_p.P630fs	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	658					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	p.R572W(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GAGCCTGATTTGGGGGAGTTTT	0.584													G	105363002	-	G	105363001	7	5	16	1	0	1	1	0	0	0	0	0	14256	1335	47	0	1431	0	SH3PXD2A	10	105363001	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1118	105363001	30171746	828	13150											
COL17A1	1308	broad.mit.edu	37	chr10	105824282	105824282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtccccatggaggaccccGcgggcagggtggaggaccac	17	13	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:105824282G>A	uc001kxr.2	-	10	849	c.680C>T	c.(679-681)GCG>GTG	p.A227V	COL17A1_uc010qqv.1_Missense_Mutation_p.A211V|COL17A1_uc009xxp.1_Missense_Mutation_p.A227V	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	227	Cytoplasmic (Potential).|Nonhelical region (NC16).|Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGAGGACCCCGCGGGCAGGGT	0.587													A	105824282	G	A	105824282	3	1	16	1	0	0	0	0	1	0	0	0	3674	1087	38	1	4001	1	COL17A1	10	105824282	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	461281	105824282	29710465	829	13151											
TDRD1	56165	broad.mit.edu	37	chr10	115963151	115963151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttatctttgaaagggtaCggttaccgaattcaaacacc	7	8	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:115963151C>T	uc001lbg.1	+	8	959	c.806C>T	c.(805-807)ACG>ATG	p.T269M	TDRD1_uc001lbf.2_Missense_Mutation_p.T260M|TDRD1_uc001lbh.1_Missense_Mutation_p.T260M|TDRD1_uc001lbi.1_Missense_Mutation_p.T260M|TDRD1_uc010qsc.1_Translation_Start_Site|TDRD1_uc001lbj.2_Translation_Start_Site	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	269					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGAAAGGGTACGGTTACCGAA	0.348													T	115963151	C	T	115963151	3	4	16	1	0	0	0	0	1	0	0	0	15727	536	19	1	832	1	TDRD1	10	115963151	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	10138869	115963151	19571596	830	13152											
ATRNL1	26033	broad.mit.edu	37	chr10	117045787	117045787	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttagagtcaattccagTagagaaaactatgacaatgc	8	7	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:117045787T>A	uc001lcg.2	+	15	2681	c.2295T>A	c.(2293-2295)AGT>AGA	p.S765R		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	765	C-type lectin.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCAATTCCAGTAGAGAAAACT	0.333													A	117045787	T	A	117045787	3	1	16	1	0	0	0	0	1	0	0	0	1207	1635	57	5	2353	5	ATRNL1	10	117045787	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	1082636	117045787	18488960	831	13153											
VAX1	11023	broad.mit.edu	37	chr10	118897444	118897444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcggctccttgaggaaggCggctgggaggttcccctccg	16	13	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:118897444C>T	uc009xyx.2	-	1	369	c.124G>A	c.(124-126)GCC>ACC	p.A42T	VAX1_uc001ldb.1_Missense_Mutation_p.A42T	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1 isoform a	42						nucleus	sequence-specific DNA binding			ovary(2)	2				all cancers(201;0.0108)		TTGAGGAAGGCGGCTGGGAGG	0.642													T	118897444	C	T	118897444	3	4	16	1	0	0	0	0	1	0	0	0	17131	768	27	1	1032	1	VAX1	10	118897444	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1851657	118897444	16637303	832	13154											
PRDX3	10935	broad.mit.edu	37	chr10	120936633	120936634	+	Frame_Shift_Ins	INS	-	-	C													gggctgcagtggcagaaatgINSccccaaggaatggcactcac							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:120936633_120936634insC	uc001lec.2	-	2	111_112	c.68_69insG	c.(67-69)GGCfs	p.G23fs		NM_006793	NP_006784	P30048	PRDX3_HUMAN	peroxiredoxin 3 isoform a precursor	23					cell redox homeostasis|hydrogen peroxide catabolic process|mitochondrion organization|myeloid cell differentiation|negative regulation of kinase activity|positive regulation of cell proliferation|positive regulation of NF-kappaB transcription factor activity|regulation of mitochondrial membrane potential|response to lipopolysaccharide	early endosome|mitochondrion	alkyl hydroperoxide reductase activity|caspase inhibitor activity|peroxidase activity|peroxiredoxin activity|protein C-terminus binding|protein kinase binding				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		TGGCAGAAATGCCCCAAGGAAT	0.475													C	120936634	-	C	120936633	7	5	16	1	0	1	1	0	0	0	0	0	12466	1306	46	0	725	0	PRDX3	10	120936633	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	2039189	120936633	14598114	833	13155	39	2									
PRDX3	10935	broad.mit.edu	37	chr10	120936634	120936635	+	Frame_Shift_Ins	INS	-	-	C													ggctgcagtggcagaaatgcINScccaaggaatggcactcaca							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:120936633_120936634G>GC	uc001lec.3	-	1	111_112	c.68_69C>GC	c.(67-69)ggcfs	p.G23fs	PRDX3_uc021pzp.1_Frame_Shift_Ins_p.G23fs	NM_006793	NP_006784	P30048	PRDX3_HUMAN	Homo sapiens peroxiredoxin 3 (PRDX3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	23					cell redox homeostasis|hydrogen peroxide catabolic process|mitochondrion organization|myeloid cell differentiation|negative regulation of kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|regulation of mitochondrial membrane potential|response to lipopolysaccharide	early endosome|mitochondrion	alkyl hydroperoxide reductase activity|caspase inhibitor activity|peroxidase activity|peroxiredoxin activity|protein C-terminus binding|protein kinase binding	p.I24fs*50(1)		endometrium(1)|lung(2)	3		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		TGGCAGAAATGCCCCAAGGAAT	0.475													C	120936635	-	C	120936634	7	5	16	1	0	1	1	0	0	0	0	0	12466	739	26	0	726	0	PRDX3	10	120936634	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1	120936634	14598113	834	13156	39	2									
INPP5F	22876	broad.mit.edu	37	chr10	121557041	121557041	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attatgtggagactgagcagTtgattcatgttcataatcat	9	5	3	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:121557041T>G	uc001leo.2	+	8	1103	c.937T>G	c.(937-939)TTG>GTG	p.L313V		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	313	SAC.						phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GACTGAGCAGTTGATTCATGT	0.413													G	121557041	T	G	121557041	3	3	16	1	0	0	0	0	1	0	0	0	7758	1722	60	5	967	5	INPP5F	10	121557041	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	620407	121557041	13977706	835	13157											
FGFR2	2263	broad.mit.edu	37	chr10	123325038	123325038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccggagtctctaggcgtgGcgccctttatctgcaagtac	13	12	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:123325038G>A	uc010qtk.1	-	3	937	c.290C>T	c.(289-291)GCC>GTC	p.A97V	FGFR2_uc010qtg.1_Missense_Mutation_p.A97V|FGFR2_uc010qth.1_Intron|FGFR2_uc010qti.1_Intron|FGFR2_uc010qtj.1_Missense_Mutation_p.A97V|FGFR2_uc010qtl.1_Missense_Mutation_p.A97V|FGFR2_uc010qtm.1_Intron|FGFR2_uc001lfl.3_Missense_Mutation_p.A97V|FGFR2_uc001lfm.2_Intron|FGFR2_uc001lfn.3_Intron|FGFR2_uc010qtn.1_Missense_Mutation_p.A116V|FGFR2_uc010qto.1_Intron|FGFR2_uc001lfo.1_Missense_Mutation_p.A116V|FGFR2_uc010qtp.1_Missense_Mutation_p.A116V|FGFR2_uc010qtq.1_Missense_Mutation_p.A116V	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	97	Ig-like C2-type 1.|Extracellular (Potential).				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.A97T(1)		endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TCTAGGCGTGGCGCCCTTTAT	0.527		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				A	123325038	G	A	123325038	3	1	16	1	0	0	0	0	1	0	0	0	5866	1203	42	2	2495	2	FGFR2	10	123325038	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1767997	123325038	12209709	836	13158											
HMX3	340784	broad.mit.edu	37	chr10	124896865	124896865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccgcaagaagaagacgcGcacagtcttctcgcgcagcc	12	14	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:124896865G>A	uc010quc.1	+	2	692	c.692G>A	c.(691-693)CGC>CAC	p.R231H		NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	231	Homeobox.				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity				0		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		AAGAAGACGCGCACAGTCTTC	0.662													A	124896865	G	A	124896865	3	1	16	1	0	0	0	0	1	0	0	0	7248	1087	38	1	698	1	HMX3	10	124896865	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1571827	124896865	10637882	837	13159											
CTBP2	1488	broad.mit.edu	37	chr10	126727703	126727703	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaacttgcaggagtctgcGtgcatgacgccactatgaac	13	10	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:126727703G>A	uc009yak.2	-	3	208	c.-79C>T	c.(-81--77)CACGC>CATGC		CTBP2_uc009yal.2_Translation_Start_Site|CTBP2_uc001lif.3_Translation_Start_Site|CTBP2_uc001lih.3_Translation_Start_Site	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1						negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		AGGAGTCTGCGTGCATGACGC	0.488													A	126727703	G	A	126727703	1	1	16	1	0	0	0	0	0	0	0	0	3998	1160	40	1		1	CTBP2	10	126727703	Translation_Start_Site	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1830838	126727703	8807044	838	13160											
DOCK1	1793	broad.mit.edu	37	chr10	128836060	128836060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaggcagctgatgaaagtcGatggtggtgaagtagtgaag	17	3	0	5			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:128836060G>A	uc001ljt.2	+	19	1991	c.1927G>A	c.(1927-1929)GAT>AAT	p.D643N	DOCK1_uc010qun.1_Missense_Mutation_p.D664N	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	643	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GATGAAAGTCGATGGTGGTGA	0.438													A	128836060	G	A	128836060	3	1	16	1	0	0	0	0	1	0	0	0	4684	1058	37	1	2001	1	DOCK1	10	128836060	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2108357	128836060	6698687	839	13161											
FAM196A	642938	broad.mit.edu	37	chr10	128974539	128974539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgcagggctttgttccGttttttaatctgccggttgg	11	10	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:128974539G>A	uc001lju.1	-	1	162	c.121C>T	c.(121-123)CGG>TGG	p.R41W	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.R41W|FAM196A_uc001ljv.1_Missense_Mutation_p.R41W|FAM196A_uc009yap.1_Missense_Mutation_p.R41W	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	41										ovary(2)	2						GCTTTGTTCCGTTTTTTAATC	0.577													A	128974539	G	A	128974539	3	1	16	1	0	0	0	0	1	0	0	0	5528	1144	40	1	1330	1	FAM196A	10	128974539	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	138479	128974539	6560208	840	13162											
FAM196A	642938	broad.mit.edu	37	chr10	128974569	128974569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccggttggggtccagggCgtatttcatctccagggcca	14	12	2	0	rs150536495		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:128974569C>T	uc001lju.1	-	1	132	c.91G>A	c.(91-93)GCC>ACC	p.A31T	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.A31T|FAM196A_uc001ljv.1_Missense_Mutation_p.A31T|FAM196A_uc009yap.1_Missense_Mutation_p.A31T	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	31										ovary(2)	2						GGGTCCAGGGCGTATTTCATC	0.552													T	128974569	C	T	128974569	3	4	16	1	0	0	0	0	1	0	0	0	5528	768	27	1	1360	1	FAM196A	10	128974569	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	30	128974569	6560178	841	13163											
NKX6-2	84504	broad.mit.edu	37	chr10	134598438	134598438	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcacaaggcgtcccccgcGccgccgccgcacgggctgac	12	21	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr10:134598438G>A	uc001llr.2	-	3	901	c.816C>T	c.(814-816)GGC>GGT	p.G272G		NM_177400	NP_796374	Q9C056	NKX62_HUMAN	NK6 transcription factor related, locus 2	272						nucleus	sequence-specific DNA binding transcription factor activity				0		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		CGTCCCCCGCGCCGCCGCCGC	0.667													A	134598438	G	A	134598438	2	1	16	1	0	0	0	0	0	0	0	1	10458	1074	38	1		1	NKX6-2	10	134598438	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	5623869	134598438	936309	842	13164											
B4GALNT4	338707	broad.mit.edu	37	chr11	375665	375665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccttgaagatggaccacGtggcgcacgtcccccagtct	11	15	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:375665G>A	uc001lpb.2	+	10	886	c.877G>A	c.(877-879)GTG>ATG	p.V293M		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	293	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATGGACCACGTGGCGCACGT	0.652													A	375665	G	A	375665	3	1	16	1	0	0	0	0	1	0	0	0	1269	1145	40	1	915	1	B4GALNT4	11	375665	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08		375665	134630851	843	13165											
ANO9	338440	broad.mit.edu	37	chr11	418466	418466	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaccccacccagcctctGccttccatgccacatcttct	3	23	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:418466G>A	uc001lpi.2	-	23	2339	c.2254C>T	c.(2254-2256)CAG>TAG	p.Q752*	SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Nonsense_Mutation_p.Q445*|ANO9_uc010qvv.1_Nonsense_Mutation_p.Q608*	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	752	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						CCCAGCCTCTGCCTTCCATGC	0.627													A	418466	G	A	418466	4	1	16	1	0	0	0	0	0	1	0	0	704	1328	46	2	98	2	ANO9	11	418466	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	42801	418466	134588050	844	13166											
PTDSS2	81490	broad.mit.edu	37	chr11	479107	479107	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactggaggttttggctctgCgtgagtgtggtctacgagct	15	7	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:479107C>T	uc001lpj.2	+	4	566	c.390C>T	c.(388-390)TGC>TGT	p.C130C	PTDSS2_uc009ybv.1_Silent_p.C130C	NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	130	Helical; (Potential).					integral to membrane					0		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	TTTGGCTCTGCGTGAGTGTGG	0.562													T	479107	C	T	479107	2	4	16	1	0	0	0	0	0	0	0	1	12737	776	27	1		1	PTDSS2	11	479107	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	60641	479107	134527409	845	13167											
PHRF1	57661	broad.mit.edu	37	chr11	598418	598418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctgctggatgaagccatcGaggctgtggcgactggcctg	15	12	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:598418G>A	uc001lqe.2	+	9	1071	c.940G>A	c.(940-942)GAG>AAG	p.E314K	PHRF1_uc010qwc.1_Missense_Mutation_p.E314K|PHRF1_uc010qwd.1_Missense_Mutation_p.E313K|PHRF1_uc010qwe.1_Missense_Mutation_p.E310K|PHRF1_uc009ybz.1_Missense_Mutation_p.E105K	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	314	Arg-rich.						RNA polymerase binding|zinc ion binding				0						TGAAGCCATCGAGGCTGTGGC	0.657													A	598418	G	A	598418	3	1	16	1	0	0	0	0	1	0	0	0	11861	1059	37	1	970	1	PHRF1	11	598418	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	119311	598418	134408098	846	13168											
PHRF1	57661	broad.mit.edu	37	chr11	608437	608437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcccccttcccggtcccGctccacatccagctcccgca	7	23	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:608437G>A	uc001lqe.2	+	14	3112	c.2981G>A	c.(2980-2982)CGC>CAC	p.R994H	PHRF1_uc010qwc.1_Missense_Mutation_p.R993H|PHRF1_uc010qwd.1_Missense_Mutation_p.R992H|PHRF1_uc010qwe.1_Missense_Mutation_p.R990H|PHRF1_uc009ybz.1_Missense_Mutation_p.R784H|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	994	Arg-rich.						RNA polymerase binding|zinc ion binding				0						TCCCGGTCCCGCTCCACATCC	0.677													A	608437	G	A	608437	3	1	16	1	0	0	0	0	1	0	0	0	11861	1087	38	1	3028	1	PHRF1	11	608437	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	10019	608437	134398079	847	13169											
DEAF1	10522	broad.mit.edu	37	chr11	686948	686948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccatggcctcaaactcGgtgggactgtaccagttctc	10	14	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:686948G>A	uc001lqq.1	-	5	1407	c.714C>T	c.(712-714)ACC>ACT	p.T238T	DEAF1_uc009ycf.1_RNA	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	238	SAND.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CCTCAAACTCGGTGGGACTGT	0.602													A	686948	G	A	686948	2	1	16	1	0	0	0	0	0	0	0	1	4380	1103	39	1		1	DEAF1	11	686948	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	78511	686948	134319568	848	13170											
EPS8L2	64787	broad.mit.edu	37	chr11	723305	723305	+	Frame_Shift_Del	DEL	C	C	-													cagccccacttcagagcccaCccccccgggggatgccctac							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:723304_723304AC>A	uc001lqt.3	+	14	1652	c.1405_1405AC>A	c.(1405-1407)accfs	p.T469fs	EPS8L2_uc001lqu.3_Frame_Shift_Del_p.T469fs|EPS8L2_uc010qwk.2_Frame_Shift_Del_p.T485fs|EPS8L2_uc001lqv.3_Frame_Shift_Del_p.T424fs|EPS8L2_uc001lqw.3_Frame_Shift_Del_p.T81fs|EPS8L2_uc001lqx.3_Frame_Shift_Del_p.T81fs|EPS8L2_uc001lqy.3_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	Homo sapiens EPS8-like 2 (EPS8L2), mRNA.	469						cytoplasm		p.D473fs*30(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTCAGAGCCCACCCCCCCGGG	0.587											OREG0020659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	723305	C	-	723305	7	5	16	1	0	1	0	1	0	0	0	0	5196	507	18	0	1460	0	EPS8L2	11	723305	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	36357	723305	134283211	849	13171											
TALDO1	6888	broad.mit.edu	37	chr11	755877	755885	+	Splice_Site	DEL	AGCCATCGA	AGCCATCGA	-													cttttgaaaactatttccctAgccatcgacgagtacaagcc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:755876_755884TAGCCATCGA>T	uc001lqz.3	+	2	148	c.98_splice	c.e2-1	p.A33_splice	TALDO1_uc010qwl.2_Splice_Site_p.A33_splice|TALDO1_uc001lra.3_Splice_Site_p.A33_splice	NM_006755	NP_006746	P37837	TALDO_HUMAN	Homo sapiens transaldolase 1 (TALDO1), mRNA.	33					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		ACTATTTCCCTAGCCATCGACGAGTACAA	0.541													-	755885	AGCCATCGA	-	755877	8	5	16	1	0	1	0	1	0	0	1	0	15540	434	15	0	102	0	TALDO1	11	755877	Splice_Site	DEL	AGCCATCGA	TCGA-BR-4292-01A-01D-1126-08	32572	755877	134250639	850	13172											
MUC5B	727897	broad.mit.edu	37	chr11	1154250	1154250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcccaggatggctcctcCgaatccagctacaagcacca	8	16	0	0	rs79836765		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:1154250C>T	uc009ycr.1	+	3	222	c.96C>T	c.(94-96)TCC>TCT	p.S32S		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ATGGCTCCTCCGAATCCAGCT	0.657													T	1154250	C	T	1154250	2	4	16	1	0	0	0	0	0	0	0	1	9979	667	23	1		1	MUC5B	11	1154250	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	398373	1154250	133852266	851	13173											
CARS	833	broad.mit.edu	37	chr11	3062131	3062131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcggtggacctacctggcGtgccccatgtgagatgcgtc	14	14	0	1	rs61737270	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:3062131G>A	uc001lxh.2	-	3	275	c.201C>T	c.(199-201)CAC>CAT	p.H67H	CARS_uc001lxe.2_Silent_p.H57H|CARS_uc001lxf.2_Silent_p.H150H|CARS_uc001lxg.2_Silent_p.H67H|CARS_uc010qxo.1_Silent_p.H150H|CARS_uc010qxp.1_Silent_p.H80H|uc001lxi.1_RNA	NM_001751	NP_001742	P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase isoform b	67	HIGH region.				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding		CARS/ALK(5)	soft_tissue(5)|ovary(2)	7		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CCTACCTGGCGTGCCCCATGT	0.537			T	ALK	ALCL								A	3062131	G	A	3062131	2	1	16	1	0	0	0	0	0	0	0	1	2657	1136	40	1		1	CARS	11	3062131	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1907881	3062131	131944385	852	13174											
OSBPL5	114879	broad.mit.edu	37	chr11	3140844	3140844	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtgtgatggagcccacGctctcacctttggggccctg	14	13	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:3140844G>A	uc001lxk.2	-	7	782	c.624C>T	c.(622-624)AGC>AGT	p.S208S	OSBPL5_uc010qxq.1_Silent_p.S119S|OSBPL5_uc009ydw.2_Silent_p.S140S|OSBPL5_uc001lxl.2_Silent_p.S140S|OSBPL5_uc009ydx.2_Silent_p.S232S	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	oxysterol-binding protein-like protein 5 isoform	208	PH.				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGGAGCCCACGCTCTCACCTT	0.627													A	3140844	G	A	3140844	2	1	16	1	0	0	0	0	0	0	0	1	11280	1078	38	1		1	OSBPL5	11	3140844	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	78713	3140844	131865672	853	13175											
NUP98	4928	broad.mit.edu	37	chr11	3697469	3697469	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggcatagtcctcaggcaTgggaagccggccaatgtggg	15	10	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:3697469T>C	uc001lyh.2	-	33	5614	c.5323A>G	c.(5323-5325)ATG>GTG	p.M1775V	NUP98_uc001lyi.2_Missense_Mutation_p.M1701V|NUP98_uc001lyg.2_Missense_Mutation_p.M740V	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1792					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TCCTCAGGCATGGGAAGCCGG	0.587			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								C	3697469	T	C	3697469	3	2	16	1	0	0	0	0	1	0	0	0	10773	1464	51	3	83	3	NUP98	11	3697469	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	556625	3697469	131309047	854	13176											
PGAP2	27315	broad.mit.edu	37	chr11	3846303	3846305	+	In_Frame_Del	DEL	CTT	CTT	-													ttcatcatcaacttcatctcCttcttctcggcgctggctgt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:3846302_3846304CCTT>C	uc010qxw.2	+	6	957_959	c.932_934CCTT>C	c.(931-936)tccttc>tCtc	p.F313del	PGAP2_uc001lyl.3_In_Frame_Del_p.F213del|PGAP2_uc010qxy.2_In_Frame_Del_p.F248del|PGAP2_uc001lyn.4_In_Frame_Del_p.146_147LL>L|PGAP2_uc010qya.2_Non-coding_Transcript|PGAP2_uc010qyb.2_In_Frame_Del_p.196_197LL>L|PGAP2_uc001lys.3_In_Frame_Del_p.F256del|PGAP2_uc001lyt.3_In_Frame_Del_p.F39del|PGAP2_uc021qcm.1_In_Frame_Del_p.F195del	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	Homo sapiens post-GPI attachment to proteins 2 (PGAP2), transcript variant 1, mRNA.	256					GPI anchor biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						AACTTCATCTCCTTCTTCTCGGC	0.552											OREG0020703	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	3846305	CTT	-	3846303	7	5	16	1	0	1	0	1	0	0	0	0	11778	681	24	0	959	0	PGAP2	11	3846303	In_Frame_Del	DEL	CTT	TCGA-BR-4292-01A-01D-1126-08	148834	3846303	131160213	855	13177											
OR51F1	256892	broad.mit.edu	37	chr11	4790804	4790804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggctgtagccaccagcactCcagattccataaaagtgaat	8	11	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:4790804C>T	uc010qyl.1	-	1	344	c.344G>A	c.(343-345)GGA>GAA	p.G115E		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F,	115						integral to membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CACCAGCACTCCAGATTCCAT	0.428													T	4790804	C	T	4790804	3	4	16	1	0	0	0	0	1	0	0	0	11096	855	30	4	597	4	OR51F1	11	4790804	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	944501	4790804	130215712	856	13178											
OR51G1	79324	broad.mit.edu	37	chr11	4945161	4945161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatacatgcaggtgtcaggaCggtggagtcatgcagtgggt	16	6	2	0	rs145607331	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:4945161C>T	uc010qyr.1	-	1	409	c.409G>A	c.(409-411)GTC>ATC	p.V137I		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	137	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTGTCAGGACGGTGGAGTCA	0.512													T	4945161	C	T	4945161	3	4	16	1	0	0	0	0	1	0	0	0	11098	536	19	1	558	1	OR51G1	11	4945161	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	154357	4945161	130061355	857	13179											
OR51L1	119682	broad.mit.edu	37	chr11	5020584	5020585	+	Frame_Shift_Ins	INS	-	-	T													tggccatggcctttgaccgtINStttgttgctatctgccatcc					rs146166863	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:5020583_5020584G>GT	uc010qyu.2	+	0	371_372	c.371_372G>GT	c.(370-372)cgtfs	p.R124fs		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R124H(2)|p.R124L(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCTTTGACCGTTTTGTTGCTA	0.505													T	5020585	-	T	5020584	7	5	16	1	0	1	1	0	0	0	0	0	11102	1712	60	0	374	0	OR51L1	11	5020584	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	75423	5020584	129985932	858	13180											
OR51V1	283111	broad.mit.edu	37	chr11	5221347	5221347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgtctgaacaggctaagCggagaagatcctggtgcagg	16	7	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:5221347C>T	uc010qyz.1	-	1	584	c.584G>A	c.(583-585)CGC>CAC	p.R195H		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V,	195	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGGCTAAGCGGAGAAGATC	0.403													T	5221347	C	T	5221347	3	4	16	1	0	0	0	0	1	0	0	0	11107	768	27	1	384	1	OR51V1	11	5221347	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	200763	5221347	129785169	859	13181											
OR52H1	390067	broad.mit.edu	37	chr11	5565960	5565960	+	Frame_Shift_Del	DEL	A	A	-													agcgatgggcgaggatggagAaaaaggcaggtgtataaaac							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:5565960delA	uc010qzh.1	-	1	794	c.794delT	c.(793-795)TTCfs	p.F265fs	HBG2_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H,	265	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGATGGAGAAAAAGGCAGG	0.507													-	5565960	A	-	5565960	7	5	16	1	0	1	0	1	0	0	0	0	11119	246	9	0	171	0	OR52H1	11	5565960	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	344613	5565960	129440556	860	13182											
FAM160A2	84067	broad.mit.edu	37	chr11	6244371	6244371	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaagggctggcactcccAgccagtcttcccgtcgcaga	12	15	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:6244371A>G	uc001mcl.3	-	4	1234	c.875T>C	c.(874-876)CTG>CCG	p.L292P	FAM160A2_uc001mck.3_Missense_Mutation_p.L292P|FAM160A2_uc001mcm.2_Missense_Mutation_p.L292P	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	292					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						TGGCACTCCCAGCCAGTCTTC	0.542													G	6244371	A	G	6244371	3	3	16	1	0	0	0	0	1	0	0	0	5469	188	7	3	2121	3	FAM160A2	11	6244371	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	678411	6244371	128762145	861	13183											
SMPD1	6609	broad.mit.edu	37	chr11	6413002	6413002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccggggttctggcctgcCgcccgcatcccggccaggtg	15	18	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:6413002C>T	uc001mcw.2	+	2	881	c.707C>T	c.(706-708)CCG>CTG	p.P236L	SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.P236L|SMPD1_uc009yew.2_Missense_Mutation_p.P235L	NM_000543	NP_000534	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid	234					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	TCTGGCCTGCCGCCCGCATCC	0.657													T	6413002	C	T	6413002	3	4	16	1	0	0	0	0	1	0	0	0	14804	652	23	1	713	1	SMPD1	11	6413002	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	168631	6413002	128593514	862	13184											
APBB1	322	broad.mit.edu	37	chr11	6432180	6432180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgatgatcaggccaggtcctCgtaggcctcggttggctgcg	15	11	1	2	rs139345068		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:6432180C>T	uc001mdb.1	-	2	498	c.398G>A	c.(397-399)CGA>CAA	p.R133Q	APBB1_uc001mdc.1_Missense_Mutation_p.R133Q|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	133					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GCCAGGTCCTCGTAGGCCTCG	0.433													T	6432180	C	T	6432180	3	4	16	1	0	0	0	0	1	0	0	0	759	884	31	1	1786	1	APBB1	11	6432180	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	19178	6432180	128574336	863	13185											
DNHD1	144132	broad.mit.edu	37	chr11	6585775	6585775	+	Frame_Shift_Del	DEL	C	C	-													gtcagcataccaccaaagaaCcccctgctggctacacactc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:6585775delC	uc001mdw.3	+	32	11061	c.10497delC	c.(10495-10497)AACfs	p.N3499fs	DNHD1_uc001mea.3_5'UTR|DNHD1_uc001meb.2_5'UTR|DNHD1_uc001mec.2_5'Flank|DNHD1_uc010rao.1_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	3499					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CACCAAAGAACCCCCTGCTGG	0.537													-	6585775	C	-	6585775	7	5	16	1	0	1	0	1	0	0	0	0	4668	506	18	0	10624	0	DNHD1	11	6585775	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	153595	6585775	128420741	864	13186											
OR10A2	341276	broad.mit.edu	37	chr11	6891024	6891024	+	Silent	SNP	A	A	G													cctactgaaatacagtcattActctttctgacatttctaac							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:6891024A>G	uc001meu.1	+	1	39	c.39A>G	c.(37-39)TTA>TTG	p.L13L		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A,	13	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TACAGTCATTACTCTTTCTGA	0.468													G	6891024	A	G	6891024	2	3	16	1	0	0	0	0	0	0	0	1	10890	388	14	3		3	OR10A2	11	6891024	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	305249	6891024	128115492	865	13187	40	2									
OR10A2	341276	broad.mit.edu	37	chr11	6891030	6891030	+	Silent	SNP	T	T	C													gaaatacagtcattactcttTctgacatttctaaccatcta							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:6891030T>C	uc001meu.1	+	1	45	c.45T>C	c.(43-45)TTT>TTC	p.F15F		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A,	15	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CATTACTCTTTCTGACATTTC	0.453													C	6891030	T	C	6891030	2	2	16	1	0	0	0	0	0	0	0	1	10890	1780	62	3		3	OR10A2	11	6891030	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	6	6891030	128115486	866	13188	40	2									
OVCH2	341277	broad.mit.edu	37	chr11	7716409	7716409	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaaggacagttaagtaactGcaacctgaatctgaaacgta	8	7	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:7716409G>T	uc010rbf.1	-	13	1293	c.1293C>A	c.(1291-1293)TGC>TGA	p.C431*		NM_198185	NP_937828			ovochymase 2 precursor												0				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		TTAAGTAACTGCAACCTGAAT	0.398											OREG0020725	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	7716409	G	T	7716409	4	4	16	1	0	0	0	0	0	1	0	0	11324	1311	46	5	412	5	OVCH2	11	7716409	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	825379	7716409	127290107	867	13189											
NRIP3	56675	broad.mit.edu	37	chr11	9009687	9009687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagaaaccaaaatcatgTcatcctcctcagacttcttt	5	12	4	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:9009687T>C	uc001mhg.2	-	2	431	c.317A>G	c.(316-318)GAC>GGC	p.D106G	NRIP3_uc010rbu.1_Missense_Mutation_p.D106G	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	106					proteolysis		aspartic-type endopeptidase activity				0				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		CAAAATCATGTCATCCTCCTC	0.493													C	9009687	T	C	9009687	3	2	16	1	0	0	0	0	1	0	0	0	10654	1667	58	3	432	3	NRIP3	11	9009687	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	1293278	9009687	125996829	868	13190											
DENND5A	23258	broad.mit.edu	37	chr11	9191462	9191462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttctgccgatctttccGcctccactgggcaggggcat	11	15	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:9191462G>A	uc001mhl.2	-	10	2347	c.2092C>T	c.(2092-2094)CGG>TGG	p.R698W	DENND5A_uc001mhk.2_Missense_Mutation_p.R41W|DENND5A_uc010rbw.1_Missense_Mutation_p.R698W|DENND5A_uc010rbx.1_RNA	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	698										liver(1)	1						CGATCTTTCCGCCTCCACTGG	0.438													A	9191462	G	A	9191462	3	1	16	1	0	0	0	0	1	0	0	0	4436	1086	38	1	1827	1	DENND5A	11	9191462	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	181775	9191462	125815054	869	13191											
AMPD3	272	broad.mit.edu	37	chr11	10500145	10500146	+	Frame_Shift_Ins	INS	-	-	C													cacagcaagattggaagggcINScccccggcagccagtccggc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:10500144_10500145G>GC	uc001min.1	+	2	665_666	c.320_321G>GC	c.(319-321)ggcfs	p.G107fs	AMPD3_uc010rbz.1_Intron|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc009yfx.1_Frame_Shift_Ins_p.G98fs|AMPD3_uc001mio.1_Frame_Shift_Ins_p.G98fs|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Frame_Shift_Ins_p.G105fs|AMPD3_uc009yfy.2_Frame_Shift_Ins_p.G98fs	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	98					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GATTGGAAGGGCCCCCCGGCAG	0.579													C	10500146	-	C	10500145	7	5	16	1	0	1	1	0	0	0	0	0	587	726	26	0	351	0	AMPD3	11	10500145	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1308683	10500145	124506371	870	13192											
RPS13	6207	broad.mit.edu	37	chr11	17098745	17098745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagtaaggcccttcttggCcagtttgtaaatctgctcct	10	10	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:17098745C>T	uc001mmp.2	-	3	153	c.121G>A	c.(121-123)GCC>ACC	p.A41T		NM_001017	NP_001008	P62277	RS13_HUMAN	ribosomal protein S13	41					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome				0						CCCTTCTTGGCCAGTTTGTAA	0.483													T	17098745	C	T	17098745	3	4	16	1	0	0	0	0	1	0	0	0	13623	739	26	2	350	2	RPS13	11	17098745	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	6598600	17098745	117907771	871	13193											
MYOD1	4654	broad.mit.edu	37	chr11	17742486	17742486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgagcggcgcccggcggcGgaactgctacgaaggcgcct	16	16	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:17742486G>A	uc001mni.2	+	2	888	c.668G>A	c.(667-669)CGG>CAG	p.R223Q		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	223					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3						gcccggcggcggAACTGCTAC	0.537													A	17742486	G	A	17742486	3	1	16	1	0	0	0	0	1	0	0	0	10088	1116	39	1	674	1	MYOD1	11	17742486	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	643741	17742486	117264030	872	13194											
SPTY2D1	144108	broad.mit.edu	37	chr11	18633072	18633072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaactactttccatgtaaCgtaaggcataatcactttca	4	11	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:18633072C>T	uc001moy.2	-	5	2132	c.1916G>A	c.(1915-1917)CGT>CAT	p.R639H		NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	639										breast(1)	1						TTCCATGTAACGTAAGGCATA	0.323													T	18633072	C	T	18633072	3	4	16	1	0	0	0	0	1	0	0	0	15125	536	19	1	149	1	SPTY2D1	11	18633072	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	890586	18633072	116373444	873	13195											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955510	18955510	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctgcctaaaggagcccacGaagaagtaaatgatggggtt	13	8	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:18955510G>A	uc001mpg.2	-	1	1040	c.822C>T	c.(820-822)TTC>TTT	p.F274F		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	274	Helical; Name=7; (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3						AGGAGCCCACGAAGAAGTAAA	0.512													A	18955510	G	A	18955510	2	1	16	1	0	0	0	0	0	0	0	1	9766	1049	37	1		1	MRGPRX1	11	18955510	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	322438	18955510	116051006	874	13196											
PAMR1	25891	broad.mit.edu	37	chr11	35456304	35456304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgcctgccacggccagCgcaacccttgggtctttgga	13	14	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:35456304C>T	uc001mwg.2	-	10	1425	c.1382G>A	c.(1381-1383)CGC>CAC	p.R461H	PAMR1_uc001mwf.2_Missense_Mutation_p.R478H|PAMR1_uc010rew.1_Missense_Mutation_p.R350H|PAMR1_uc010rex.1_Missense_Mutation_p.R421H	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	461	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						CCACGGCCAGCGCAACCCTTG	0.552													T	35456304	C	T	35456304	3	4	16	1	0	0	0	0	1	0	0	0	11413	768	27	1	788	1	PAMR1	11	35456304	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	16500794	35456304	99550212	875	13197											
API5	8539	broad.mit.edu	37	chr11	43351532	43351532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggctgcagtactttgcacGgggcctgcaagtttatatca	11	9	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:43351532G>A	uc010rfh.1	+	10	1318	c.1145G>A	c.(1144-1146)CGG>CAG	p.R382Q	API5_uc010rfg.1_Missense_Mutation_p.R371Q|API5_uc001mxf.2_Missense_Mutation_p.R382Q|API5_uc010rfi.1_Missense_Mutation_p.R328Q|API5_uc001mxg.2_Missense_Mutation_p.R256Q	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5 isoform a	382	Leucine-zipper.				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						TACTTTGCACGGGGCCTGCAA	0.368													A	43351532	G	A	43351532	3	1	16	1	0	0	0	0	1	0	0	0	773	1116	39	1	1183	1	API5	11	43351532	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	7895228	43351532	91654984	876	13198											
ACCS	84680	broad.mit.edu	37	chr11	44102762	44102762	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggctccgctttggcacgCtgtacacagaaaaccaggat	11	12	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:44102762C>A	uc009yks.1	+	12	1147	c.1003C>A	c.(1003-1005)CTG>ATG	p.L335M	EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.L335M	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase	335							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4						CTTTGGCACGCTGTACACAGA	0.627													A	44102762	C	A	44102762	3	1	16	1	0	0	0	0	1	0	0	0	133	796	28	5	1045	5	ACCS	11	44102762	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	751230	44102762	90903754	877	13199											
ALX4	60529	broad.mit.edu	37	chr11	44286624	44286624	+	Frame_Shift_Del	DEL	G	G	-													cgctgctggccccagagccaGgggggtgggcatgaggggac							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:44286624delG	uc001myb.2	-	4	1120	c.1016delC	c.(1015-1017)CCTfs	p.P339fs		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	339					hair follicle development						0						CCCAGAGCCAGGGGGGTGGGC	0.692													-	44286624	G	-	44286624	7	5	16	1	0	1	0	1	0	0	0	0	558	1000	35	0	223	0	ALX4	11	44286624	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	183862	44286624	90719892	878	13200											
CHST1	8534	broad.mit.edu	37	chr11	45671251	45671251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgggtcacgagaaggggCggaagtcccgctcctccacc	14	16	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:45671251C>T	uc001mys.1	-	4	1894	c.1223G>A	c.(1222-1224)CGC>CAC	p.R408H		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	408	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CGAGAAGGGGCGGAAGTCCCG	0.632													T	45671251	C	T	45671251	3	4	16	1	0	0	0	0	1	0	0	0	3397	768	27	1	16	1	CHST1	11	45671251	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1384627	45671251	89335265	879	13201											
MAPK8IP1	9479	broad.mit.edu	37	chr11	45926551	45926551	+	Frame_Shift_Del	DEL	A	A	-													tgtagccactttttccagttAaaaaacatctctttctgcgg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:45926550_45926550TA>T	uc001nbr.3	+	9	2247	c.1922_1922TA>T	c.(1921-1923)ttafs	p.L641fs		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	641	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	MAP-kinase scaffold activity|kinesin binding|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TTTTTCCAGTTAAAAAACATC	0.522													-	45926551	A	-	45926551	7	5	16	1	0	1	0	1	0	0	0	0	9284	359	13	0	1961	0	MAPK8IP1	11	45926551	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	255300	45926551	89079965	880	13202											
C11orf94	143678	broad.mit.edu	37	chr11	45928456	45928457	+	Frame_Shift_Ins	INS	-	-	G													agtggctgcgagagttccagINSgggggcggaaaatgcctcag							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:45928455_45928456A>AG	uc001nbs.4	-	1	176_177	c.139_140T>CT	c.(139-141)ctgfs	p.L47fs		NM_001080446	NP_001073915	C9JXX5	CK094_HUMAN	Homo sapiens chromosome 11 open reading frame 94 (C11orf94), mRNA.	47						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						CGAGAGTTCCAGGGGGGCGGAA	0.619													G	45928457	-	G	45928456	7	5	16	1	0	1	1	0	0	0	0	0	1673	991	35	0	165	0	C11orf94	11	45928456	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1905	45928456	89078060	881	13203											
AMBRA1	55626	broad.mit.edu	37	chr11	46564257	46564257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggcactggttctgggcGggggcatggattccgcctca	16	10	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:46564257G>A	uc010rgu.1	-	7	1670	c.1310C>T	c.(1309-1311)CCG>CTG	p.P437L	AMBRA1_uc010rgt.1_Missense_Mutation_p.P3L|AMBRA1_uc009ylc.1_Missense_Mutation_p.P437L|AMBRA1_uc001ncu.1_Missense_Mutation_p.P347L|AMBRA1_uc001ncv.2_Missense_Mutation_p.P347L|AMBRA1_uc001ncw.2_Missense_Mutation_p.P347L|AMBRA1_uc001ncx.2_Missense_Mutation_p.P437L	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	437					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GGTTCTGGGCGGGGGCATGGA	0.567													A	46564257	G	A	46564257	3	1	16	1	0	0	0	0	1	0	0	0	565	1116	39	1	2634	1	AMBRA1	11	46564257	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	635801	46564257	88442259	882	13204											
AMBRA1	55626	broad.mit.edu	37	chr11	46568814	46568814	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacctccgtaatatagataTtatggttcacatgggtggag	10	7	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:46568814T>G	uc010rgu.1	-	4	587	c.227A>C	c.(226-228)AAT>ACT	p.N76T	AMBRA1_uc009ylc.1_Missense_Mutation_p.N76T|AMBRA1_uc001ncu.1_Missense_Mutation_p.N76T|AMBRA1_uc001ncv.2_Missense_Mutation_p.N76T|AMBRA1_uc001ncw.2_Missense_Mutation_p.N76T|AMBRA1_uc001ncx.2_Missense_Mutation_p.N76T	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	76	WD 1.				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AATATAGATATTATGGTTCAC	0.448													G	46568814	T	G	46568814	3	3	16	1	0	0	0	0	1	0	0	0	565	1493	52	5	3463	5	AMBRA1	11	46568814	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	4557	46568814	88437702	883	13205											
CELF1	10658	broad.mit.edu	37	chr11	47494745	47494746	+	Frame_Shift_Ins	INS	-	-	G													tcctgatcaccaaactcctgINSgggcaggtggtagatgaaca							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:47494744_47494745T>TG	uc001nfp.3	-	13	1714_1715	c.1312_1313A>CA	c.(1312-1314)cagfs	p.Q438fs	CELF1_uc001nfl.3_Frame_Shift_Ins_p.Q410fs|CELF1_uc010rhm.2_Frame_Shift_Ins_p.Q409fs|CELF1_uc001nfm.3_Frame_Shift_Ins_p.Q407fs|CELF1_uc001nfk.2_Frame_Shift_Ins_p.Q436fs|CELF1_uc001nfn.3_Frame_Shift_Ins_p.Q406fs|CELF1_uc001nfr.1_Frame_Shift_Ins_p.Q410fs	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	Homo sapiens CUGBP, Elav-like family member 1 (CELF1), transcript variant 3, mRNA.	410	RRM 3.				RNA interference|embryo development|mRNA splice site selection|regulation of RNA splicing	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						ACCAAACTCCTGGGGCAGGTGG	0.5													G	47494746	-	G	47494745	7	5	16	1	0	1	1	0	0	0	0	0	3215	1357	47	0	240	0	CELF1	11	47494745	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	925931	47494745	87511771	884	13206											
OR4B1	119765	broad.mit.edu	37	chr11	48238681	48238681	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcttccacttctttggggTtgctgagatccttttgattg	9	9	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:48238681T>C	uc010rhs.1	+	1	320	c.320T>C	c.(319-321)GTT>GCT	p.V107A		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B,	107	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|pancreas(1)	4						TTCTTTGGGGTTGCTGAGATC	0.423													C	48238681	T	C	48238681	3	2	16	1	0	0	0	0	1	0	0	0	11044	1725	60	3	322	3	OR4B1	11	48238681	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	743936	48238681	86767835	885	13207											
OR4X1	390113	broad.mit.edu	37	chr11	48286043	48286043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccgtagtcagtttcttcGtgctgatggcttcctacctg	9	12	3	1	rs61915300		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:48286043G>A	uc010rht.1	+	1	631	c.631G>A	c.(631-633)GTG>ATG	p.V211M		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X,	211	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3						CAGTTTCTTCGTGCTGATGGC	0.557													A	48286043	G	A	48286043	3	1	16	1	0	0	0	0	1	0	0	0	11084	1145	40	1	633	1	OR4X1	11	48286043	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	47362	48286043	86720473	886	13208											
OR4A16	81327	broad.mit.edu	37	chr11	55111418	55111419	+	Frame_Shift_Ins	INS	-	-	T													catcattgtggttgccctcgINStttttgttccctgtattttt					rs141537673		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:55111418_55111419insT	uc010rie.1	+	1	742_743	c.742_743insT	c.(742-744)GTTfs	p.V248fs		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	248	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3						GGTTGCCCTCGTTTTTGTTCCC	0.396													T	55111419	-	T	55111418	7	5	16	1	0	1	1	0	0	0	0	0	11041	1145	40	0	744	0	OR4A16	11	55111418	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	6825375	55111418	79895098	887	13209	41	2									
OR4A16	81327	broad.mit.edu	37	chr11	55111419	55111420	+	Frame_Shift_Ins	INS	-	-	T													atcattgtggttgccctcgtINSttttgttccctgtattttta					rs141537673		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:55111418_55111419G>GT	uc010rie.2	+	0	742_743	c.742_743G>GT	c.(742-744)gttfs	p.V248fs		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GGTTGCCCTCGTTTTTGTTCCC	0.396													T	55111420	-	T	55111419	7	5	16	1	0	1	1	0	0	0	0	0	11041	1725	60	0	745	0	OR4A16	11	55111419	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1	55111419	79895097	888	13210	41	2									
OR8K5	219453	broad.mit.edu	37	chr11	55927379	55927379	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagtacatgacacagtcGctgagacataataacataat	6	10	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:55927379G>A	uc010rja.1	-	1	415	c.415C>T	c.(415-417)CGA>TGA	p.R139*		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TGACACAGTCGCTGAGACATA	0.403													A	55927379	G	A	55927379	4	1	16	1	0	0	0	0	0	1	0	0	11245	1095	38	1	511	1	OR8K5	11	55927379	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	815960	55927379	79079137	889	13211											
OR8H1	219469	broad.mit.edu	37	chr11	56058017	56058017	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgtcgcagaaaaagtgAcgaactacatttgagtcgca	11	8	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:56058017A>T	uc010rje.1	-	1	522	c.522T>A	c.(520-522)CGT>CGA	p.R174R		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	174	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					AGAAAAAGTGACGAACTACAT	0.448													T	56058017	A	T	56058017	2	4	16	1	0	0	0	0	0	0	0	1	11237	262	10	5		5	OR8H1	11	56058017	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	130638	56058017	78948499	890	13212											
GLYATL1	92292	broad.mit.edu	37	chr11	58723451	58723451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtttctttgaggcctcctGtgagtggcaccaatggactt	12	9	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:58723451G>A	uc001nnf.2	+	8	1236	c.860G>A	c.(859-861)TGT>TAT	p.C287Y	uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.C318Y|GLYATL1_uc001nni.1_Missense_Mutation_p.C287Y|GLYATL1_uc001nnj.1_Missense_Mutation_p.C287Y			Q969I3	GLYL1_HUMAN	SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	287						mitochondrion	glycine N-acyltransferase activity			ovary(1)	1					Glycine(DB00145)	GAGGCCTCCTGTGAGTGGCAC	0.423													A	58723451	G	A	58723451	3	1	16	1	0	0	0	0	1	0	0	0	6480	1377	48	4	979	4	GLYATL1	11	58723451	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2665434	58723451	76283065	891	13213											
FAM111A	63901	broad.mit.edu	37	chr11	58920101	58920101	+	Frame_Shift_Del	DEL	A	A	-													ttcaagaaaaaaatgaaagtAaaaaatggggaaacattatt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:58920101delA	uc010rkp.1	+	5	1187	c.960delA	c.(958-960)GTAfs	p.V320fs	FAM111A_uc010rkq.1_Frame_Shift_Del_p.V320fs|FAM111A_uc010rkr.1_Frame_Shift_Del_p.V320fs|FAM111A_uc001nno.2_Frame_Shift_Del_p.V320fs|FAM111A_uc001nnp.2_Frame_Shift_Del_p.V320fs|FAM111A_uc001nnq.2_Frame_Shift_Del_p.V320fs	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN	hypothetical protein LOC63901	320					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_epithelial(135;0.139)				AAATGAAAGTAAAAAATGGGG	0.328													-	58920101	A	-	58920101	7	5	16	1	0	1	0	1	0	0	0	0	5399	349	13	0	966	0	FAM111A	11	58920101	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	196650	58920101	76086415	892	13214											
PATL1	219988	broad.mit.edu	37	chr11	59406604	59406604	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtttgtaggtatagagatTggcttggccagggctgcttg	16	5	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:59406604T>C	uc001noe.3	-	18	2351	c.2208A>G	c.(2206-2208)CCA>CCG	p.P736P		NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog	736	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			ovary(1)	1						GTATAGAGATTGGCTTGGCCA	0.478													C	59406604	T	C	59406604	2	2	16	1	0	0	0	0	0	0	0	1	11475	1799	63	3		3	PATL1	11	59406604	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	486503	59406604	75599912	893	13215											
INCENP	3619	broad.mit.edu	37	chr11	61912525	61912527	+	In_Frame_Del	DEL	GGA	GGA	-													cagctgcgcaggcagaaggtGgaggaggacaagcggcggcg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:61912525_61912527delGGA	uc001nsw.1	+	12	1879_1881	c.1677_1679delGGA	c.(1675-1680)GTGGAG>GTG	p.E561del	INCENP_uc009ynw.1_In_Frame_Del_p.E561del|INCENP_uc001nsx.1_In_Frame_Del_p.E557del|INCENP_uc001nsy.1_5'UTR	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	561	Potential.				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1						GGCAGAAGGTGGAGGAGGACAAG	0.675													-	61912527	GGA	-	61912525	7	5	16	1	0	1	0	1	0	0	0	0	7733	1335	47	0	1719	0	INCENP	11	61912525	In_Frame_Del	DEL	GGA	TCGA-BR-4292-01A-01D-1126-08	2505921	61912525	73093991	894	13216											
AHNAK	79026	broad.mit.edu	37	chr11	62285596	62285596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacctggccccttcagttcGccagaaacctgtggcccctt	8	17	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:62285596G>A	uc001ntl.2	-	5	16593	c.16293C>T	c.(16291-16293)GGC>GGT	p.G5431G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	5431					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CCTTCAGTTCGCCAGAAACCT	0.527													A	62285596	G	A	62285596	2	1	16	1	0	0	0	0	0	0	0	1	414	1074	38	1		1	AHNAK	11	62285596	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	373071	62285596	72720920	895	13217											
TUT1	64852	broad.mit.edu	37	chr11	62349015	62349015	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggccagctggtgactgtcGggggccgctcctttggggga	18	10	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:62349015G>A	uc001nto.2	-	3	584	c.546C>T	c.(544-546)CCC>CCT	p.P182P		NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	144					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2						GGTGACTGTCGGGGGCCGCTC	0.652													A	62349015	G	A	62349015	2	1	16	1	0	0	0	0	0	0	0	1	16777	1103	39	1		1	TUT1	11	62349015	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	63419	62349015	72657501	896	13218											
TTC9C	283237	broad.mit.edu	37	chr11	62496491	62496491	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aatctcggacctcagggcccGgccctcacgcctgaacaaga	10	16	3	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:62496491G>C	uc001nuy.2	+	1	540	c.171G>C	c.(169-171)CCG>CCC	p.P57P	HNRNPUL2_uc001nuu.1_5'Flank|HNRNPUL2_uc001nuw.2_5'Flank|TTC9C_uc001nux.2_Silent_p.P190P	NM_173810	NP_776171	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	57							binding			ovary(1)|pancreas(1)	2						CTCAGGGCCCGGCCCTCACGC	0.547													C	62496491	G	C	62496491	2	2	16	1	0	0	0	0	0	0	0	1	16714	1103	39	5		5	TTC9C	11	62496491	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	147476	62496491	72510025	897	13219											
ATL3	25923	broad.mit.edu	37	chr11	63420050	63420050	+	Splice_Site	DEL	A	A	-													catcagaacaactgcaacctAaaaaaaaggaaaatacaaac							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:63420049_63420049TA>T	uc001nxk.1	-	4	682	c.406_splice	c.e4-1	p.V136_splice	ATL3_uc010rms.1_Splice_Site_p.V118_splice	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	Homo sapiens atlastin GTPase 3 (ATL3), mRNA.	136					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AACTGCAACCTAAAAAAAAGG	0.373													-	63420050	A	-	63420050	8	5	16	1	0	1	0	1	0	0	1	0	1108	377	13	0		0	ATL3	11	63420050	Splice_Site	DEL	A	TCGA-BR-4292-01A-01D-1126-08	923559	63420050	71586466	898	13220											
MARK2	2011	broad.mit.edu	37	chr11	63676573	63676573	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcacgccgggccacgaggActtcgtgcagtgggagatgg	18	11	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:63676573A>G	uc001nxw.2	+	19	2810	c.2231A>G	c.(2230-2232)GAC>GGC	p.D744G	MARK2_uc001nxx.2_Missense_Mutation_p.D675G|MARK2_uc001nxy.2_Missense_Mutation_p.D665G|MARK2_uc001nxv.3_Missense_Mutation_p.D680G|MARK2_uc001nxz.3_Missense_Mutation_p.D701G|MARK2_uc009yoy.2_Missense_Mutation_p.D655G	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	744	KA1.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						GGCCACGAGGACTTCGTGCAG	0.597													G	63676573	A	G	63676573	3	3	16	1	0	0	0	0	1	0	0	0	9313	275	10	3	2305	3	MARK2	11	63676573	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	256523	63676573	71329943	899	13221											
CCDC88B	283234	broad.mit.edu	37	chr11	64111891	64111892	+	Frame_Shift_Ins	INS	-	-	A													tgggaggagagacagagggaINSagagaggctccccaaggcga							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:64111890_64111891G>GA	uc001nzy.3	+	13	1926_1927	c.1877_1878G>GA	c.(1876-1878)ggafs	p.G626fs	CCDC88B_uc009ypo.2_Frame_Shift_Ins_p.G623fs|CCDC88B_uc001nzz.1_Frame_Shift_Ins_p.G275fs	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	626					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGACAGAGGGAAGAGAGGCTC	0.653													A	64111892	-	A	64111891	7	5	16	1	0	1	1	0	0	0	0	0	2864	233	9	0	1932	0	CCDC88B	11	64111891	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	435318	64111891	70894625	900	13222											
MEN1	4221	broad.mit.edu	37	chr11	64575083	64575084	+	Frame_Shift_Ins	INS	-	-	CA													tcaatggaagggttgatggcINSacacaccatgaacgccacct							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:64575082_64575083G>GCA	uc001obj.3	-	3	812_813	c.739_740C>TGC	c.(739-741)gccfs	p.A247fs	MEN1_uc001obk.3_Frame_Shift_Ins_p.A247fs|MEN1_uc001obl.3_Frame_Shift_Ins_p.A207fs|MEN1_uc001obm.3_Frame_Shift_Ins_p.A242fs|MEN1_uc001obn.3_Frame_Shift_Ins_p.A247fs|MEN1_uc001obo.3_Frame_Shift_Ins_p.A247fs|MEN1_uc001obq.3_Frame_Shift_Ins_p.A247fs|MEN1_uc001obr.3_Frame_Shift_Ins_p.A247fs	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	247	Interaction with FANCD2.		A -> V (in MEN1; almost complete loss of histone methylation; loss of JUND- binding; no repression of JUND transactivation).		DNA repair|MAPKKK cascade|histone lysine methylation|negative regulation of JNK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to UV|response to gamma radiation|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	R-SMAD binding|Y-form DNA binding|double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|protein binding, bridging|transcription regulatory region DNA binding	p.A242_I247del(2)|p.C241fs*39(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						AGGGTTGATGGCACACACCATG	0.569			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				CA	64575084	-	CA	64575083	7	5	16	1	0	1	1	0	0	0	0	0	9472	710	25	0	1136	0	MEN1	11	64575083	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	463192	64575083	70431433	901	13223											
NAALADL1	10004	broad.mit.edu	37	chr11	64813303	64813303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagactcacctgtagtagCgttcctctgggaaggctcta	11	11	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:64813303C>T	uc001ocn.2	-	17	2043	c.2027G>A	c.(2026-2028)CGC>CAC	p.R676H	NAALADL1_uc010rnw.1_Missense_Mutation_p.R152H|NAALADL1_uc009ypz.2_RNA	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic	676	Extracellular (Potential).				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity				0						CCTGTAGTAGCGTTCCTCTGG	0.612													T	64813303	C	T	64813303	3	4	16	1	0	0	0	0	1	0	0	0	10129	768	27	1	203	1	NAALADL1	11	64813303	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	238220	64813303	70193213	902	13224											
SLC25A45	283130	broad.mit.edu	37	chr11	65146856	65146856	+	Frame_Shift_Del	DEL	C	C	-													tgccccctcacctgcaggaaCcccccggtgcagcccgctag							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:65146855_65146855AC>A	uc001odr.1	-	4	535	c.331_331GT>T	c.(331-333)ttcfs	p.F111fs	SLC25A45_uc009yqi.1_Intron|SLC25A45_uc001odq.1_Frame_Shift_Del_p.F87fs|SLC25A45_uc001ods.1_Frame_Shift_Del_p.F69fs|SLC25A45_uc001odt.1_Frame_Shift_Del_p.F69fs	NM_182556	NP_001070709	Q8N413	S2545_HUMAN	Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.	111					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.G110W(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						ACCTGCAGGAACCCCCCGGTG	0.657													-	65146856	C	-	65146856	7	5	16	1	0	1	0	1	0	0	0	0	14510	494	18	0	548	0	SLC25A45	11	65146856	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	333553	65146856	69859660	903	13225											
PCNXL3	399909	broad.mit.edu	37	chr11	65392970	65392970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccttgccggacaagatgCgccagtcggtggtgaggggg	17	11	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:65392970C>T	uc001oey.2	+	18	3124	c.3124C>T	c.(3124-3126)CGC>TGC	p.R1042C	PCNXL3_uc009yqn.2_Missense_Mutation_p.R2C|PCNXL3_uc001oez.2_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1042						integral to membrane					0						GGACAAGATGCGCCAGTCGGT	0.701													T	65392970	C	T	65392970	3	4	16	1	0	0	0	0	1	0	0	0	11593	768	27	1	3194	1	PCNXL3	11	65392970	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	246114	65392970	69613546	904	13226											
DKFZp761E198	91056	broad.mit.edu	37	chr11	65547392	65547392	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggtgttgcgcaaagcgAgggccagcaacaggctgagt	15	10	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:65547392A>G	uc001ofo.3	-	1	431	c.401T>C	c.(400-402)CTC>CCC	p.L134P		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	hypothetical protein LOC91056	134	Leu-rich.						protein binding				0				READ - Rectum adenocarcinoma(159;0.167)		GCGCAAAGCGAGGGCCAGCAA	0.692													G	65547392	A	G	65547392	3	3	16	1	0	0	0	0	1	0	0	0	4543	304	11	3	2068	3	DKFZp761E198	11	65547392	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	154422	65547392	69459124	905	13227											
GAL3ST3	89792	broad.mit.edu	37	chr11	65810630	65810630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgtcgtcgcgcgggctgCgctcattgtcgccgcccagg	16	16	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:65810630C>T	uc001ogv.2	-	2	804	c.644G>A	c.(643-645)CGC>CAC	p.R215H	GAL3ST3_uc001ogw.2_Missense_Mutation_p.R215H	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	215	Lumenal (Potential).				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(1)	1						GCGCGGGCTGCGCTCATTGTC	0.667													T	65810630	C	T	65810630	3	4	16	1	0	0	0	0	1	0	0	0	6199	768	27	1	655	1	GAL3ST3	11	65810630	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	263238	65810630	69195886	906	13228											
PACS1	55690	broad.mit.edu	37	chr11	65998373	65998373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgagaggaccaacagttccGacagcgagcgctccccagat	12	13	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:65998373G>A	uc001oha.1	+	13	1722	c.1588G>A	c.(1588-1590)GAC>AAC	p.D530N	PACS1_uc010rou.1_Missense_Mutation_p.D66N	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	530					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding			ovary(6)	6						CAACAGTTCCGACAGCGAGCG	0.617													A	65998373	G	A	65998373	3	1	16	1	0	0	0	0	1	0	0	0	11372	1058	37	1	1638	1	PACS1	11	65998373	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	187743	65998373	69008143	907	13229											
RIN1	9610	broad.mit.edu	37	chr11	66099763	66099763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagctactcctctgctgccCggcttccctctgcctctggt	8	18	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:66099763C>T	uc001ohn.1	-	10	2463	c.2336G>A	c.(2335-2337)CGG>CAG	p.R779Q	RIN1_uc010roy.1_Missense_Mutation_p.R410Q|RIN1_uc009yrd.1_Missense_Mutation_p.R472Q|RIN1_uc010roz.1_Missense_Mutation_p.R674Q|RIN1_uc010rpa.1_Missense_Mutation_p.R613Q	NM_004292	NP_004283	Q13671	RIN1_HUMAN	ras inhibitor RIN1	779					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			lung(2)|breast(1)	3						CTCTGCTGCCCGGCTTCCCTC	0.622													T	66099763	C	T	66099763	3	4	16	1	0	0	0	0	1	0	0	0	13371	652	23	1	19	1	RIN1	11	66099763	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	101390	66099763	68906753	908	13230											
DPP3	10072	broad.mit.edu	37	chr11	66249741	66249741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggactgccgtgaggccttcCgcctgctgtcacccacagag	12	15	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:66249741C>T	uc001oig.1	+	2	132	c.70C>T	c.(70-72)CGC>TGC	p.R24C	DPP3_uc001oif.1_Missense_Mutation_p.R24C|DPP3_uc010rpe.1_Missense_Mutation_p.R43C	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	24					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2						TGAGGCCTTCCGCCTGCTGTC	0.642													T	66249741	C	T	66249741	3	4	16	1	0	0	0	0	1	0	0	0	4728	652	23	1	72	1	DPP3	11	66249741	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	149978	66249741	68756775	909	13231											
RBM14	10432	broad.mit.edu	37	chr11	66393068	66393068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacgccaacagcaccccgcCgccctatgagcgtacccgcc	8	21	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:66393068C>T	uc001oit.2	+	2	1860	c.1721C>T	c.(1720-1722)CCG>CTG	p.P574L	RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	574					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						AGCACCCCGCCGCCCTATGAG	0.662													T	66393068	C	T	66393068	3	4	16	1	0	0	0	0	1	0	0	0	13115	652	23	1	1727	1	RBM14	11	66393068	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	143327	66393068	68613448	910	13232											
ADRBK1	156	broad.mit.edu	37	chr11	67051736	67051736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccctcaccatctcggagCggtggcagcaggaggtggca	14	14	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:67051736C>T	uc009yrn.1	+	18	1812	c.1546C>T	c.(1546-1548)CGG>TGG	p.R516W	ADRBK1_uc009yrm.1_Intron	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	516	AGC-kinase C-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CATCTCGGAGCGGTGGCAGCA	0.592													T	67051736	C	T	67051736	3	4	16	1	0	0	0	0	1	0	0	0	343	759	27	1	1616	1	ADRBK1	11	67051736	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	658668	67051736	67954780	911	13233											
LRP5	4041	broad.mit.edu	37	chr11	68205952	68205952	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagacgacagcccggcccacAgcagtgccatcgggcccgtc	12	18	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:68205952A>C	uc001ont.2	+	20	4225	c.4150A>C	c.(4150-4152)AGC>CGC	p.S1384R	LRP5_uc009ysg.2_Missense_Mutation_p.S794R	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1384	Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CCCGGCCCACAGCAGTGCCAT	0.592													C	68205952	A	C	68205952	3	2	16	1	0	0	0	0	1	0	0	0	8960	188	7	5	4228	5	LRP5	11	68205952	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	1154216	68205952	66800564	912	13234											
MYEOV	26579	broad.mit.edu	37	chr11	69063312	69063312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagacgtggacgtgtcccGggccaggagggtcacagatg	17	9	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:69063312G>A	uc001oov.2	+	3	845	c.395G>A	c.(394-396)CGG>CAG	p.R132Q	MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.R132Q|MYEOV_uc001oow.2_Missense_Mutation_p.R74Q	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	132											0	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GACGTGTCCCGGGCCAGGAGG	0.617													A	69063312	G	A	69063312	3	1	16	1	0	0	0	0	1	0	0	0	10025	1116	39	1	401	1	MYEOV	11	69063312	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	857360	69063312	65943204	913	13235											
SHANK2	22941	broad.mit.edu	37	chr11	70507741	70507742	+	Frame_Shift_Ins	INS	-	-	T													atccaaagccctcattgtctINStttttctgcaggaccaccgt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:70507740_70507741C>CT	uc001oqc.3	-	12	1816_1817	c.1704_1705G>AG	c.(1702-1707)aaagacfs	p.K568fs	SHANK2_uc010rqn.2_Frame_Shift_Ins_p.K44fs|SHANK2_uc001opz.3_Frame_Shift_Ins_p.K44fs|BC127192_uc009ysn.1_Intron|SHANK2_uc010rqp.1_Frame_Shift_Ins_p.K44fs	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	253					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCCTCATTGTCTTTTTTCTGCA	0.51													T	70507742	-	T	70507741	7	5	16	1	0	1	1	0	0	0	0	0	14265	1606	56	0	3697	0	SHANK2	11	70507741	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1444429	70507741	64498775	914	13236											
LRTOMT	220074	broad.mit.edu	37	chr11	71806464	71806464	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtcccgtatcaccacgttCgacttcagtggggtcaccaa	9	14	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:71806464C>T	uc001orr.2	+	6	855	c.477C>T	c.(475-477)TTC>TTT	p.F159F	LRTOMT_uc009ysz.2_RNA|LRTOMT_uc010rqt.1_3'UTR|LRTOMT_uc010rqu.1_Silent_p.F141F|LRTOMT_uc009yta.2_RNA|LRTOMT_uc010rqv.1_Intron|LRTOMT_uc010rqw.1_Intron|LRTOMT_uc001ors.3_Intron|LRTOMT_uc010rqs.1_Intron	NM_145309	NP_660352	Q96E66	LRC51_HUMAN	leucine rich transmembrane and	159	LRRCT.					cytoplasm					0						TCACCACGTTCGACTTCAGTG	0.567													T	71806464	C	T	71806464	2	4	16	1	0	0	0	0	0	0	0	1	9046	883	31	1		1	LRTOMT	11	71806464	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1298723	71806464	63200052	915	13237											
FOLR2	2350	broad.mit.edu	37	chr11	71931995	71931995	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acacctcccgcctgtacaacTttaactgggaccactgcggc	8	16	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:71931995T>G	uc009ytd.2	+	3	401	c.232T>G	c.(232-234)TTT>GTT	p.F78V	FOLR2_uc009yte.2_Missense_Mutation_p.F78V|FOLR2_uc001ose.3_Missense_Mutation_p.F78V|FOLR2_uc009ytf.2_Missense_Mutation_p.F78V	NM_001113534	NP_001107006	P14207	FOLR2_HUMAN	folate receptor 2 precursor	78					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(2)|ovary(1)	3					Folic Acid(DB00158)	CCTGTACAACTTTAACTGGGA	0.602													G	71931995	T	G	71931995	3	3	16	1	0	0	0	0	1	0	0	0	5982	1609	56	5	238	5	FOLR2	11	71931995	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	125531	71931995	63074521	916	13238											
C2CD3	26005	broad.mit.edu	37	chr11	73785348	73785348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaggatgctgactgcaaacGttccatccaaatcagcaggg	10	11	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:73785348G>A	uc001ouu.2	-	24	5128	c.4901C>T	c.(4900-4902)ACG>ATG	p.T1634M	C2CD3_uc001out.2_RNA	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1634	C2 2.					centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					GACTGCAAACGTTCCATCCAA	0.562													A	73785348	G	A	73785348	3	1	16	1	0	0	0	0	1	0	0	0	2154	1145	40	1	1022	1	C2CD3	11	73785348	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1853353	73785348	61221168	917	13239											
C2CD3	26005	broad.mit.edu	37	chr11	73829364	73829364	+	Frame_Shift_Del	DEL	T	T	-													aagagctgttgactggcttaTttttttagaagggacgatat							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:73829363_73829363AT>A	uc001ouu.2	-	8	1657	c.1430_1430AT>T	c.(1429-1431)atafs	p.I477fs	C2CD3_uc001ouv.2_Frame_Shift_Del_p.I477fs	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	477						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGACTGGCTTATTTTTTTAGA	0.428													-	73829364	T	-	73829364	7	5	16	1	0	1	0	1	0	0	0	0	2154	1493	52	0	4554	0	C2CD3	11	73829364	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	44016	73829364	61177152	918	13240											
GDPD5	81544	broad.mit.edu	37	chr11	75146602	75146602	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtggctgccaccccctcGggggcccacaggggtggcgg	19	14	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:75146602G>A	uc001owo.3	-	18	2305	c.1768C>T	c.(1768-1770)CGA>TGA	p.R590*	GDPD5_uc001owp.3_Nonsense_Mutation_p.R590*|GDPD5_uc001own.3_Nonsense_Mutation_p.R345*|GDPD5_uc009yuc.2_Nonsense_Mutation_p.R452*|GDPD5_uc009yud.2_Nonsense_Mutation_p.R471*	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain	590	Cytoplasmic (Potential).				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			ovary(1)	1						CCACCCCCTCGGGGGCCCACA	0.577													A	75146602	G	A	75146602	4	1	16	1	0	0	0	0	0	1	0	0	6327	1124	39	1	53	1	GDPD5	11	75146602	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1317238	75146602	59859914	919	13241											
CCDC81	60494	broad.mit.edu	37	chr11	86133684	86133684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaagcaatgccagaggcGcacctccaacgtgggcgaga	13	13	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:86133684G>A	uc001pbx.1	+	15	2314	c.1886G>A	c.(1885-1887)CGC>CAC	p.R629H	CCDC81_uc001pbw.1_Missense_Mutation_p.R539H|CCDC81_uc010rtq.1_Missense_Mutation_p.R412H|CCDC81_uc001pby.1_Missense_Mutation_p.R364H	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81 isoform 1	629										skin(1)	1		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TGCCAGAGGCGCACCTCCAAC	0.557													A	86133684	G	A	86133684	3	1	16	1	0	0	0	0	1	0	0	0	2855	1087	38	1	1944	1	CCDC81	11	86133684	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	10987082	86133684	48872832	920	13242											
ME3	10873	broad.mit.edu	37	chr11	86270753	86270753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccaggtcactctgctgcCgctcgtaatatctcatgatt	8	12	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:86270753C>T	uc001pbz.2	-	2	550	c.296G>A	c.(295-297)CGG>CAG	p.R99Q	ME3_uc001pca.2_Missense_Mutation_p.R99Q|ME3_uc009yvk.2_Missense_Mutation_p.R99Q|ME3_uc010rtr.1_RNA	NM_001014811	NP_001014811	Q16798	MAON_HUMAN	mitochondrial malic enzyme 3 precursor	99					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			ovary(1)	1		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	ACTCTGCTGCCGCTCGTAATA	0.537													T	86270753	C	T	86270753	3	4	16	1	0	0	0	0	1	0	0	0	9419	652	23	1	1570	1	ME3	11	86270753	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	137069	86270753	48735763	921	13243											
GRM5	2915	broad.mit.edu	37	chr11	88780385	88780385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaaggaaacttaccttctGtgtgcacggctgatacatag	10	9	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:88780385G>A	uc001pcq.2	-	1	856	c.656C>T	c.(655-657)ACA>ATA	p.T219I	GRM5_uc009yvm.2_Missense_Mutation_p.T219I|GRM5_uc009yvn.1_Missense_Mutation_p.T219I	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	219	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTTACCTTCTGTGTGCACGGC	0.403													A	88780385	G	A	88780385	3	1	16	1	0	0	0	0	1	0	0	0	6800	1377	48	4	3018	4	GRM5	11	88780385	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2509632	88780385	46226131	922	13244											
FAT3	120114	broad.mit.edu	37	chr11	92088438	92088438	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctgttgttggatctgtaaagGaaaactcacgcattggaaca	10	7	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:92088438G>C	uc001pdj.3	+	1	3177	c.3160G>C	c.(3160-3162)GAA>CAA	p.E1054Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1054	Cadherin 10.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCTGTAAAGGAAAACTCACG	0.493										TCGA Ovarian(4;0.039)			C	92088438	G	C	92088438	3	2	16	1	0	0	0	0	1	0	0	0	5691	1175	41	5	3162	5	FAT3	11	92088438	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	3308053	92088438	42918078	923	13245											
CWC15	51503	broad.mit.edu	37	chr11	94704653	94704653	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcctgagtagtctgtcTaaagtagaaacaaaccaggg	11	8	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:94704653T>C	uc001pfd.3	-	3	255	c.132_splice	c.e3-1	p.R44_splice	CWC15_uc009ywl.1_Intron|KDM4D_uc001pfe.2_5'Flank	NM_016403	NP_057487	Q9P013	CWC15_HUMAN	CWC15 homolog						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding|RNA binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTAGTCTGTCTAAAGTAGAAA	0.383													C	94704653	T	C	94704653	5	2	16	1	0	0	0	0	0	0	1	0	4067	1536	53	3	578	3	CWC15	11	94704653	Splice_Site	SNP	T	TCGA-BR-4292-01A-01D-1126-08	2616215	94704653	40301863	924	13246											
CCDC82	79780	broad.mit.edu	37	chr11	96086838	96086838	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaacttctcttcttgaaagTaatccgcaaaattgagatat	5	8	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:96086838T>C	uc009ywp.2	-	7	1850	c.1607A>G	c.(1606-1608)TAC>TGC	p.Y536C	CCDC82_uc009ywq.2_Missense_Mutation_p.Y536C|CCDC82_uc001pfx.3_Missense_Mutation_p.Y536C|CCDC82_uc009ywr.2_Missense_Mutation_p.Y536C	NM_024725	NP_079001	Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	536							protein binding			ovary(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TTCTTGAAAGTAATCCGCAAA	0.313													C	96086838	T	C	96086838	3	2	16	1	0	0	0	0	1	0	0	0	2856	1638	57	3	31	3	CCDC82	11	96086838	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	1382185	96086838	38919678	925	13247											
KIAA1377	57562	broad.mit.edu	37	chr11	101834523	101834523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgtgaagaaagttatccGtctgtgactctaagaactgc	10	7	2	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:101834523G>A	uc001pgm.2	+	6	3027	c.2757G>A	c.(2755-2757)CCG>CCA	p.P919P	KIAA1377_uc001pgn.2_Silent_p.P875P|KIAA1377_uc010run.1_Silent_p.P720P|KIAA1377_uc009yxa.1_Silent_p.P720P	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	919							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAAGTTATCCGTCTGTGACTC	0.403													A	101834523	G	A	101834523	2	1	16	1	0	0	0	0	0	0	0	1	8227	1132	40	1		1	KIAA1377	11	101834523	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	5747685	101834523	33171993	926	13248											
DYNC2H1	79659	broad.mit.edu	37	chr11	103058206	103058206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcagtactaatactggtcGtgtatacagaccaaaagact	7	8	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:103058206G>A	uc001pho.2	+	43	7175	c.7031G>A	c.(7030-7032)CGT>CAT	p.R2344H	DYNC2H1_uc001phn.1_Missense_Mutation_p.R2344H|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2344	AAA 3 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AATACTGGTCGTGTATACAGA	0.408													A	103058206	G	A	103058206	3	1	16	1	0	0	0	0	1	0	0	0	4846	1145	40	1	7201	1	DYNC2H1	11	103058206	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1223683	103058206	31948310	927	13249											
CARD16	114769	broad.mit.edu	37	chr11	104916053	104916053	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcctacccttcttgtgtgGgctgaaactgaaagtatgtt	9	9	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:104916053G>T	uc001pip.1	-	1	1	c.-26_splice	c.e1-1		CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_Splice_Site	NM_001017534	NP_001017534	Q5EG05	CAR16_HUMAN	caspase-1 dominant-negative inhibitor pseudo-ICE						regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			skin(1)	1						TTCTTGTGTGGGCTGAAACTG	0.458													T	104916053	G	T	104916053	5	4	16	1	0	0	0	0	0	0	1	0	2647	1247	43	5		5	CARD16	11	104916053	Splice_Site	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1857847	104916053	30090463	928	13250											
ATM	472	broad.mit.edu	37	chr11	108098419	108098419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatgatagagctacagaacGaaaggtagtaaattacttaa	8	5	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:108098419G>A	uc001pkb.1	+	2	453	c.68G>A	c.(67-69)CGA>CAA	p.R23Q	ATM_uc009yxr.1_Missense_Mutation_p.R23Q|ATM_uc001pkc.1_Missense_Mutation_p.R23Q	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	23			R -> Q (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.R23Q(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GCTACAGAACGAAAGGTAGTA	0.323			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			A	108098419	G	A	108098419	3	1	16	1	0	0	0	0	1	0	0	0	1109	1058	37	1	70	1	ATM	11	108098419	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	3182366	108098419	26908097	929	13251											
EXPH5	23086	broad.mit.edu	37	chr11	108385068	108385068	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattggtgatggtgccctcAggaactcttcctggttctcc	10	13	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:108385068A>C	uc001pkk.2	-	6	1277	c.1166T>G	c.(1165-1167)CTG>CGG	p.L389R	EXPH5_uc010rvy.1_Missense_Mutation_p.L201R|EXPH5_uc010rvz.1_Missense_Mutation_p.L233R|EXPH5_uc010rwa.1_Missense_Mutation_p.L313R	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	389					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TGGTGCCCTCAGGAACTCTTC	0.458													C	108385068	A	C	108385068	3	2	16	1	0	0	0	0	1	0	0	0	5322	188	7	5	4807	5	EXPH5	11	108385068	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	286649	108385068	26621448	930	13252											
RDX	5962	broad.mit.edu	37	chr11	110108291	110108291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcttcagcagctcgacGctccttttcaagtcgttctg	8	14	4	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:110108291G>A	uc001pku.2	-	11	1487	c.1177C>T	c.(1177-1179)CGT>TGT	p.R393C	RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Missense_Mutation_p.R393C|RDX_uc009yxz.2_Missense_Mutation_p.R46C|RDX_uc009yya.2_Intron|RDX_uc001pks.2_5'Flank|RDX_uc001pkt.2_Missense_Mutation_p.R47C|RDX_uc010rwe.1_Missense_Mutation_p.R257C	NM_002906	NP_002897	P35241	RADI_HUMAN	radixin	393	Glu-rich.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding				0		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GCAGCTCGACGCTCCTTTTCA	0.433													A	110108291	G	A	110108291	3	1	16	1	0	0	0	0	1	0	0	0	13198	1087	38	1	590	1	RDX	11	110108291	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1723223	110108291	24898225	931	13253											
HTR3B	9177	broad.mit.edu	37	chr11	113803030	113803030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggacattgaaagatacCctgaccttccctatgtttat	8	9	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:113803030C>T	uc001pok.2	+	5	455	c.388C>T	c.(388-390)CCT>TCT	p.P130S	HTR3B_uc001pol.2_Missense_Mutation_p.P119S	NM_006028	NP_006019	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B	130	Extracellular (Potential).				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TGAAAGATACCCTGACCTTCC	0.423													T	113803030	C	T	113803030	3	4	16	1	0	0	0	0	1	0	0	0	7445	623	22	4	406	4	HTR3B	11	113803030	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3694739	113803030	21203486	932	13254											
CADM1	23705	broad.mit.edu	37	chr11	115088648	115088648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcacatgttaactcaagcGcgtccccttcccgggttaag	8	14	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:115088648G>A	uc001ppi.3	-	6	914	c.785C>T	c.(784-786)GCG>GTG	p.A262V	CADM1_uc001ppf.3_Missense_Mutation_p.A262V|CADM1_uc001ppk.3_Missense_Mutation_p.A262V|CADM1_uc001ppj.3_Missense_Mutation_p.A262V|CADM1_uc001ppl.2_Missense_Mutation_p.A262V|CADM1_uc001pph.3_Missense_Mutation_p.A14V	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	262	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			ovary(2)	2	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TAACTCAAGCGCGTCCCCTTC	0.458													A	115088648	G	A	115088648	3	1	16	1	0	0	0	0	1	0	0	0	2566	1087	38	1	563	1	CADM1	11	115088648	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1285618	115088648	19917868	933	13255											
DSCAML1	57453	broad.mit.edu	37	chr11	117335741	117335741	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggaccaccaccccatacTgggcgaacttcttgaggttg	10	13	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:117335741T>C	uc001prh.1	-	17	3364	c.3362A>G	c.(3361-3363)CAG>CGG	p.Q1121R		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1061	Extracellular (Potential).|Fibronectin type-III 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACCCCATACTGGGCGAACTT	0.622													C	117335741	T	C	117335741	3	2	16	1	0	0	0	0	1	0	0	0	4769	1580	55	3	3047	3	DSCAML1	11	117335741	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	2247093	117335741	17670775	934	13256											
AMICA1	120425	broad.mit.edu	37	chr11	118068766	118068768	+	In_Frame_Del	DEL	TCT	TCT	-													ttcttttatctctggattagTcttcttcgtgttcttcacca							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:118068765_118068767GTCT>G	uc001psk.2	-	7	1125_1127	c.951_953AGAC>C	c.(949-954)aagact>aaCt	p.317_318KT>N	AMICA1_uc001psg.2_In_Frame_Del_p.127_128KT>N|AMICA1_uc001psh.2_In_Frame_Del_p.278_279KT>N|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_In_Frame_Del_p.307_308KT>N|AMICA1_uc010rxw.1_In_Frame_Del_p.278_279KT>N|AMICA1_uc010rxx.1_In_Frame_Del_p.317_318KT>N|AMICA1_uc001psl.1_In_Frame_Del_p.273_274KT>N	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	317					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTCTGGATTAGTCTTCTTCGTGT	0.443											OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	118068768	TCT	-	118068766	7	5	16	1	0	1	0	1	0	0	0	0	574	1667	58	0	244	0	AMICA1	11	118068766	In_Frame_Del	DEL	TCT	TCGA-BR-4292-01A-01D-1126-08	733025	118068766	16937750	935	13257											
DDX6	1656	broad.mit.edu	37	chr11	118629614	118629614	+	Splice_Site	DEL	G	G	-													tttctgcaaatgggaattctGgggggggagcgggaaaaaga							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:118629613_118629613TG>T	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAG	0.423			T	IGH@	B-NHL								-	118629614	G	-	118629614	8	5	16	1	0	1	0	1	0	0	1	0	4377	1363	47	0		0	DDX6	11	118629614	Splice_Site	DEL	G	TCGA-BR-4292-01A-01D-1126-08	560848	118629614	16376902	936	13258											
CXCR5	643	broad.mit.edu	37	chr11	118764511	118764511	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcagacacgcagttccacGgagaccttcctgttccacct	9	16	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:118764511G>A	uc001pue.3	+	2	368	c.258G>A	c.(256-258)ACG>ACA	p.T86T	CXCR5_uc001puf.2_Silent_p.T41T	NM_001716	NP_001707	P32302	CXCR5_HUMAN	Burkitt lymphoma receptor 1 isoform 1	86	Cytoplasmic (Potential).				B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GCAGTTCCACGGAGACCTTCC	0.657													A	118764511	G	A	118764511	2	1	16	1	0	0	0	0	0	0	0	1	4094	1103	39	1		1	CXCR5	11	118764511	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	134897	118764511	16242005	937	13259											
HYOU1	10525	broad.mit.edu	37	chr11	118920545	118920545	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgtctcaaatacagacTccacctgaaaacaggttcaa	6	12	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:118920545T>G	uc001puu.2	-	15	1863	c.1670A>C	c.(1669-1671)GAG>GCG	p.E557A	HYOU1_uc001put.2_Missense_Mutation_p.E522A|HYOU1_uc010ryu.1_Missense_Mutation_p.E577A|HYOU1_uc010ryv.1_Missense_Mutation_p.E446A|HYOU1_uc001pux.3_Missense_Mutation_p.E557A|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.E557A	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	557						endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		AAATACAGACTCCACCTGAAA	0.433													G	118920545	T	G	118920545	3	3	16	1	0	0	0	0	1	0	0	0	7470	1551	54	5	1377	5	HYOU1	11	118920545	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	156034	118920545	16085971	938	13260											
DPAGT1	1798	broad.mit.edu	37	chr11	118969143	118969144	+	Frame_Shift_Ins	INS	-	-	A													gagcaatcccaaagtggtgaINSaaaaaaagggtatcatgaag					rs35482889		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:118969142_118969143G>GA	uc001pvi.3	-	4	1118_1119	c.698_699C>TC	c.(697-699)ttcfs	p.F233fs	H2AFX_uc001pvg.3_5'Flank|DPAGT1_uc001pvj.3_Frame_Shift_Ins_p.F126fs|DPAGT1_uc001pvk.3_Frame_Shift_Ins_p.F61fs|DPAGT1_uc001pvm.1_Frame_Shift_Ins_p.F126fs|DPAGT1_uc010rza.2_Frame_Shift_Ins_p.F126fs	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN	Homo sapiens dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) (DPAGT1), mRNA.	233					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity|phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups	p.?(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CCAAAGTGGTGAAAAAAAAGGG	0.441													A	118969144	-	A	118969143	7	5	16	1	0	1	1	0	0	0	0	0	4710	246	9	0	548	0	DPAGT1	11	118969143	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	48598	118969143	16037373	939	13261											
TRIM29	23650	broad.mit.edu	37	chr11	119993703	119993703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtatctcttcatggtgtccGgtgcactccactcacccccg	8	16	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:119993703G>A	uc001pwz.2	-	5	1518	c.1394C>T	c.(1393-1395)CCG>CTG	p.P465L	TRIM29_uc001pwx.2_5'Flank|TRIM29_uc001pwy.2_5'UTR|TRIM29_uc010rzi.1_Missense_Mutation_p.P204L|TRIM29_uc010rzj.1_Missense_Mutation_p.P198L|TRIM29_uc001pxa.2_RNA	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	465					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CATGGTGTCCGGTGCACTCCA	0.592													A	119993703	G	A	119993703	3	1	16	1	0	0	0	0	1	0	0	0	16500	1116	39	1	392	1	TRIM29	11	119993703	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1024560	119993703	15012813	940	13262											
TRIM29	23650	broad.mit.edu	37	chr11	120008291	120008291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcccgggggtagctgttcCgccgggtctccccgggctcc	16	17	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:120008291C>T	uc001pwz.2	-	1	573	c.449G>A	c.(448-450)CGG>CAG	p.R150Q	TRIM29_uc001pxa.2_RNA	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	150					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GTAGCTGTTCCGCCGGGTCTC	0.642													T	120008291	C	T	120008291	3	4	16	1	0	0	0	0	1	0	0	0	16500	652	23	1	1353	1	TRIM29	11	120008291	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	14588	120008291	14998225	941	13263											
ZNF202	7753	broad.mit.edu	37	chr11	123596771	123596771	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcctctgctgaagcttttTccacaggtagggcacgtgaa	10	10	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:123596771T>C	uc001pzd.1	-	9	2281	c.1881A>G	c.(1879-1881)GGA>GGG	p.G627G	ZNF202_uc001pzc.1_Silent_p.G403G|ZNF202_uc001pze.1_Silent_p.G627G|ZNF202_uc001pzf.1_Silent_p.G627G	NM_003455	NP_003446	O95125	ZN202_HUMAN	zinc finger protein 202	627	C2H2-type 8.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TGAAGCTTTTTCCACAGGTAG	0.517													C	123596771	T	C	123596771	2	2	16	1	0	0	0	0	0	0	0	1	17760	1770	62	3		3	ZNF202	11	123596771	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	3588480	123596771	11409745	942	13264											
OR10G4	390264	broad.mit.edu	37	chr11	123887208	123887208	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gacaaagtagcacatcctcaGaggaaataaatactaggaag	9	7	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:123887208G>T	uc010sac.1	+	1	927	c.927G>T	c.(925-927)CAG>CAT	p.Q309H		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G,	309	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CACATCCTCAGAGGAAATAAA	0.358													T	123887208	G	T	123887208	3	4	16	1	0	0	0	0	1	0	0	0	10901	933	33	5	929	5	OR10G4	11	123887208	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	290437	123887208	11119308	943	13265											
OR10G7	390265	broad.mit.edu	37	chr11	123909240	123909240	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaagtcaatatggtctggaCagcagagtgcagagagccac	13	8	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:123909240C>A	uc001pzq.1	-	1	469	c.469G>T	c.(469-471)GTC>TTC	p.V157F		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G,	157	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ATGGTCTGGACAGCAGAGTGC	0.577													A	123909240	C	A	123909240	3	1	16	1	0	0	0	0	1	0	0	0	10902	478	17	5	470	5	OR10G7	11	123909240	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	22032	123909240	11097276	944	13266											
VSIG2	23584	broad.mit.edu	37	chr11	124619649	124619649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaggaaaagttccaagacGcacccagttgtacactggct	10	10	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:124619649G>A	uc001qas.2	-	4	617	c.541C>T	c.(541-543)CGT>TGT	p.R181C	VSIG2_uc001qat.2_Missense_Mutation_p.R181C	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	181	Extracellular (Potential).|Ig-like C2-type.					integral to plasma membrane|membrane fraction				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GTTCCAAGACGCACCCAGTTG	0.552													A	124619649	G	A	124619649	3	1	16	1	0	0	0	0	1	0	0	0	17221	1087	38	1	458	1	VSIG2	11	124619649	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	710409	124619649	10386867	945	13267											
FLI1	2313	broad.mit.edu	37	chr11	128680805	128680806	+	Frame_Shift_Ins	INS	-	-	G													aatactggacctcccccacgINSgggggaatctaccccaaccc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:128680804_128680805C>CG	uc010sbu.2	+	8	1623_1624	c.1280_1281C>CG	c.(1279-1281)acgfs	p.T427fs	FLI1_uc010sbt.2_Frame_Shift_Ins_p.T234fs|FLI1_uc010sbv.2_Frame_Shift_Ins_p.T394fs|FLI1_uc009zci.3_Frame_Shift_Ins_p.T361fs	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	427					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		ACCTCCCCCACGGGGGGAATCT	0.564			T	EWSR1	Ewing sarcoma								G	128680806	-	G	128680805	7	5	16	1	0	1	1	0	0	0	0	0	5924	1103	39	0	1315	0	FLI1	11	128680805	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	4061156	128680805	6325711	946	13268											
ARHGAP32	9743	broad.mit.edu	37	chr11	128840874	128840874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagggacagactcggcgcGcaggtgcagcagcgggaccc	17	14	0	1	rs112097648		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:128840874G>A	uc009zcp.2	-	22	4192	c.4192C>T	c.(4192-4194)CGC>TGC	p.R1398C	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.R357C|ARHGAP32_uc001qez.2_Missense_Mutation_p.R1049C	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1398	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						GACTCGGCGCGCAGGTGCAGC	0.637													A	128840874	G	A	128840874	3	1	16	1	0	0	0	0	1	0	0	0	881	1087	38	1	2075	1	ARHGAP32	11	128840874	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	160069	128840874	6165642	947	13269											
OPCML	4978	broad.mit.edu	37	chr11	132307147	132307147	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttttactttccgcacatcGggcgcagcgacatcgttcaa	8	12	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr11:132307147G>A	uc001qgs.2	-	4	683	c.633C>T	c.(631-633)CCC>CCT	p.P211P	OPCML_uc001qgu.2_Silent_p.P204P|OPCML_uc010sck.1_Silent_p.P211P|OPCML_uc001qgt.2_Silent_p.P210P|OPCML_uc010scl.1_Silent_p.P170P	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	211	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TCCGCACATCGGGCGCAGCGA	0.537													A	132307147	G	A	132307147	2	1	16	1	0	0	0	0	0	0	0	1	10874	1103	39	1		1	OPCML	11	132307147	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	3466273	132307147	2699369	948	13270											
IQSEC3	440073	broad.mit.edu	37	chr12	280307	280307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccgcgctcagggagaggCcggcggagagcacggtggag	20	10	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:280307C>T	uc001qhw.1	+	10	2191	c.2185C>T	c.(2185-2187)CCG>TCG	p.P729S	IQSEC3_uc001qhu.1_Missense_Mutation_p.P729S	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1032					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CAGGGAGAGGCCGGCGGAGAG	0.612													T	280307	C	T	280307	3	4	16	1	0	0	0	0	1	0	0	0	7819	739	26	2	3144	2	IQSEC3	12	280307	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08		280307	133571588	949	13271											
ERC1	23085	broad.mit.edu	37	chr12	1481092	1481092	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaagacccaagaggaagtGgctgccctgaagcgggagaa	15	8	0	5			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:1481092G>T	uc001qjb.2	+	16	3115	c.2874G>T	c.(2872-2874)GTG>GTT	p.V958V	ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Silent_p.V930V|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Silent_p.V958V|ERC1_uc010sdv.1_Silent_p.V666V|ERC1_uc001qje.2_RNA	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	958	Potential.				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(2)|breast(1)	5	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AAGAGGAAGTGGCTGCCCTGA	0.507													T	1481092	G	T	1481092	2	4	16	1	0	0	0	0	0	0	0	1	5210	1335	47	5		5	ERC1	12	1481092	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1200785	1481092	132370803	950	13272											
WNT5B	81029	broad.mit.edu	37	chr12	1755092	1755092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggagaagtacgacagcGcggccgccatgcgcgtcacc	14	13	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:1755092G>A	uc009zdq.2	+	5	996	c.754G>A	c.(754-756)GCG>ACG	p.A252T	WNT5B_uc001qjj.2_Missense_Mutation_p.A252T|WNT5B_uc001qjk.2_Missense_Mutation_p.A252T|WNT5B_uc001qjl.2_Missense_Mutation_p.A252T	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family,	252					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GTACGACAGCGCGGCCGCCAT	0.692													A	1755092	G	A	1755092	3	1	16	1	0	0	0	0	1	0	0	0	17389	1087	38	1	768	1	WNT5B	12	1755092	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	274000	1755092	132096803	951	13273											
TEAD4	7004	broad.mit.edu	37	chr12	3128323	3128323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctatgctgtccagcctccGctgcctctgccaggtgggtg	12	15	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:3128323G>A	uc010sej.1	+	8	844	c.567G>A	c.(565-567)CCG>CCA	p.P189P	TEAD4_uc010sek.1_Silent_p.P146P|TEAD4_uc001qln.2_Silent_p.P61P	NM_003213	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4 isoform 1	190					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			TCCAGCCTCCGCTGCCTCTGC	0.687													A	3128323	G	A	3128323	2	1	16	1	0	0	0	0	0	0	0	1	15738	1074	38	1		1	TEAD4	12	3128323	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1373231	3128323	130723572	952	13274											
RAD51AP1	10635	broad.mit.edu	37	chr12	4668106	4668107	+	Frame_Shift_Ins	INS	-	-	T													tcagagtctccgccttggctINStgtccagattagcacgagtt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:4668105_4668106C>CT	uc001qmw.3	+	9	1161_1162	c.1005_1006C>CT	c.(1003-1008)ggcttgfs	p.G335fs	RAD51AP1_uc001qmu.3_Frame_Shift_Ins_p.G318fs|RAD51AP1_uc010sep.2_Frame_Shift_Ins_p.G216fs|RAD51AP1_uc010seq.2_Frame_Shift_Ins_p.G216fs|RAD51AP1_uc009zeg.3_Non-coding_Transcript	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	Homo sapiens RAD51 associated protein 1 (RAD51AP1), transcript variant 1, mRNA.	335	Interaction with RAD51.				double-strand break repair via homologous recombination		RNA binding|double-stranded DNA binding|protein binding|single-stranded DNA binding	p.L319M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TCCGCCTTGGCTTGTCCAGATT	0.49													T	4668107	-	T	4668106	7	5	16	1	0	1	1	0	0	0	0	0	12986	1606	56	0	1044	0	RAD51AP1	12	4668106	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1539783	4668106	129183789	953	13275											
DYRK4	8798	broad.mit.edu	37	chr12	4719362	4719362	+	Frame_Shift_Del	DEL	A	A	-													atataaccaacaacagggggAaaaaaagatacccagattcc					rs80196697		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:4719361_4719361GA>G	uc009zeh.1	+	12	1443	c.1401_1401GA>G	c.(1399-1401)gggfs	p.G467fs	DYRK4_uc001qmx.3_Frame_Shift_Del_p.G352fs|DYRK4_uc001qmy.2_Frame_Shift_Del_p.G352fs|DYRK4_uc021qtq.1_Frame_Shift_Del_p.G206fs|DYRK4_uc001qmz.2_Frame_Shift_Del_p.G66fs|DYRK4_uc001qna.2_5'UTR|DYRK4_uc010ser.2_5'UTR	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	352						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G754G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ACAACAGGGGGAAAAAAAGAT	0.393													-	4719362	A	-	4719362	7	5	16	1	0	1	0	1	0	0	0	0	4858	247	9	0	1091	0	DYRK4	12	4719362	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	51256	4719362	129132533	954	13276											
ZNF384	171017	broad.mit.edu	37	chr12	6787521	6787521	+	Frame_Shift_Del	DEL	G	G	-													cctgcagggcttgtgagccaGggggaagagctgagacaatc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:6787520_6787520AG>A	uc010sfh.2	-	5	729	c.459_459CT>T	c.(457-459)cctfs	p.P153fs	ZNF384_uc001qqa.3_Frame_Shift_Del_p.P153fs|ZNF384_uc001qqd.3_Intron|ZNF384_uc009zew.1_Frame_Shift_Del_p.P8fs	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	Homo sapiens zinc finger protein 384 (ZNF384), transcript variant 7, mRNA.	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						CTTGTGAGCCAGGGGGAAGAG	0.582			T	"EWSR1, TAF15 "	ALL								-	6787521	G	-	6787521	7	5	16	1	0	1	0	1	0	0	0	0	17872	1000	35	0	1299	0	ZNF384	12	6787521	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	2068159	6787521	127064374	955	13277											
PEX5	5830	broad.mit.edu	37	chr12	7362774	7362774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctatggggcagccgacgcGcgggatctgtccaccctcct	13	16	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:7362774G>A	uc009zfu.1	+	17	2455	c.1875G>A	c.(1873-1875)GCG>GCA	p.A625A	PEX5_uc001qsw.2_Silent_p.A625A|PEX5_uc010sgc.1_Silent_p.A640A|PEX5_uc001qsu.2_Silent_p.A588A|PEX5_uc010sgd.1_Silent_p.A646A|PEX5_uc001qsv.2_Silent_p.A617A	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5 isoform d	625					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			ovary(1)	1						CAGCCGACGCGCGGGATCTGT	0.617													A	7362774	G	A	7362774	2	1	16	1	0	0	0	0	0	0	0	1	11748	1074	38	1		1	PEX5	12	7362774	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	575253	7362774	126489121	956	13278											
ACSM4	341392	broad.mit.edu	37	chr12	7475033	7475033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatataaattcaagagtctgCggcactgcttgaccggaggg	13	8	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:7475033C>T	uc001qsx.1	+	7	1021	c.1021C>T	c.(1021-1023)CGG>TGG	p.R341W		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	341					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding				0						CAAGAGTCTGCGGCACTGCTT	0.512													T	7475033	C	T	7475033	3	4	16	1	0	0	0	0	1	0	0	0	186	759	27	1	1047	1	ACSM4	12	7475033	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	112259	7475033	126376862	957	13279											
CD163	9332	broad.mit.edu	37	chr12	7649629	7649629	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcgtaactgtcccagccGtcatcacatattgtccccca	6	16	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:7649629G>A	uc001qsz.3	-	5	1007	c.879C>T	c.(877-879)GAC>GAT	p.D293D	CD163_uc001qta.3_Silent_p.D293D|CD163_uc009zfw.2_Silent_p.D293D	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	293	SRCR 3.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						TGTCCCAGCCGTCATCACATA	0.507													A	7649629	G	A	7649629	2	1	16	1	0	0	0	0	0	0	0	1	2967	1136	40	1		1	CD163	12	7649629	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	174596	7649629	126202266	958	13280											
KLRG1	10219	broad.mit.edu	37	chr12	9144878	9144878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcagttcttctgagtgtGctgctataccagtggatcct	10	10	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:9144878G>A	uc001qvh.2	+	2	170	c.159G>A	c.(157-159)GTG>GTA	p.V53V	KLRG1_uc001qvg.2_Silent_p.V53V	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G,	53	Helical; Signal-anchor for type II membrane protein; (Potential).				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			central_nervous_system(1)	1						TTCTGAGTGTGCTGCTATACC	0.413													A	9144878	G	A	9144878	2	1	16	1	0	0	0	0	0	0	0	1	8421	1306	46	2		2	KLRG1	12	9144878	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1495249	9144878	124707017	959	13281											
A2M	2	broad.mit.edu	37	chr12	9231878	9231878	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgccatatcgctccccaaaGgtgctgtaggagccatcata	9	13	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:9231878G>T	uc001qvk.1	-	25	3194	c.3081C>A	c.(3079-3081)ACC>ACA	p.T1027T	A2M_uc001qvj.1_Silent_p.T69T|A2M_uc009zgk.1_Silent_p.T877T	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1027					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	GCTCCCCAAAGGTGCTGTAGG	0.348													T	9231878	G	T	9231878	2	4	16	1	0	0	0	0	0	0	0	1	4	987	35	5		5	A2M	12	9231878	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	87000	9231878	124620017	960	13282											
A2M	2	broad.mit.edu	37	chr12	9246145	9246145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcttcaacatgcaccaggCgtgcatggcctcttcccatt	8	15	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:9246145C>T	uc001qvk.1	-	18	2269	c.2156G>A	c.(2155-2157)CGC>CAC	p.R719H	A2M_uc009zgk.1_Missense_Mutation_p.R569H	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	719	Bait region.|Inhibitory.				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	ATGCACCAGGCGTGCATGGCC	0.443													T	9246145	C	T	9246145	3	4	16	1	0	0	0	0	1	0	0	0	4	768	27	1	2344	1	A2M	12	9246145	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	14267	9246145	124605750	961	13283											
PZP	5858	broad.mit.edu	37	chr12	9318694	9318694	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctcaggaaaatagcttcGcaccgtttcagggactggcc	11	11	2	0	rs150067154		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:9318694G>A	uc001qvl.2	-	18	2241	c.2212C>T	c.(2212-2214)CGA>TGA	p.R738*	PZP_uc009zgl.2_Nonsense_Mutation_p.R607*|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Nonsense_Mutation_p.R70*	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						AAATAGCTTCGCACCGTTTCA	0.448													A	9318694	G	A	9318694	4	1	16	1	0	0	0	0	0	1	0	0	12869	1095	38	1	2312	1	PZP	12	9318694	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	72549	9318694	124533201	962	13284											
PZP	5858	broad.mit.edu	37	chr12	9353635	9353635	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgagactctgccattgtgCaattcgatttcttcttgggt	9	9	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:9353635C>A	uc001qvl.2	-	6	552	c.523G>T	c.(523-525)GCA>TCA	p.A175S	PZP_uc009zgl.2_Missense_Mutation_p.A44S	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						TGCCATTGTGCAATTCGATTT	0.458													A	9353635	C	A	9353635	3	1	16	1	0	0	0	0	1	0	0	0	12869	710	25	5	4049	5	PZP	12	9353635	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	34941	9353635	124498260	963	13285											
KLRC2	3822	broad.mit.edu	37	chr12	10587929	10587929	+	Frame_Shift_Del	DEL	T	T	-													acaaggaataagaactattgTttttaacacagtggccatca							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:10587928_10587928GT>G	uc001qyh.3	-	1	276	c.269_269AC>C	c.(268-270)acafs	p.T90fs	KLRC2_uc010she.1_Frame_Shift_Del_p.T90fs|KLRC2_uc001qyk.2_Frame_Shift_Del_p.T90fs	NM_002261	NP_002252	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA.	90					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						AAGAACTATTGTTTTTAACAC	0.398													-	10587929	T	-	10587929	7	5	16	1	0	1	0	1	0	0	0	0	8416	1725	60	0	447	0	KLRC2	12	10587929	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	1234294	10587929	123263966	964	13286											
MAGOHB	55110	broad.mit.edu	37	chr12	10762434	10762434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcactaaatacaaacctgtCggccaaccctatcaggggga	8	12	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:10762434C>T	uc001qyq.1	-	3	312	c.260G>A	c.(259-261)CGA>CAA	p.R87Q	MAGOHB_uc001qyr.1_RNA	NM_018048	NP_060518	Q96A72	MGN2_HUMAN	mago-nashi homolog B	87					mRNA processing|mRNA transport|RNA splicing	nucleus	RNA binding			breast(1)	1						ACAAACCTGTCGGCCAACCCT	0.338													T	10762434	C	T	10762434	3	4	16	1	0	0	0	0	1	0	0	0	9195	884	31	1	198	1	MAGOHB	12	10762434	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	174505	10762434	123089461	965	13287											
DUSP16	80824	broad.mit.edu	37	chr12	12630345	12630345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctgtctgaaggcctggCggtctgcagcttcttgggga	16	10	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:12630345C>T	uc001rao.1	-	7	2052	c.1420G>A	c.(1420-1422)GCC>ACC	p.A474T	DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.A326T	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	474					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GAAGGCCTGGCGGTCTGCAGC	0.567													T	12630345	C	T	12630345	3	4	16	1	0	0	0	0	1	0	0	0	4816	768	27	1	581	1	DUSP16	12	12630345	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1867911	12630345	121221550	966	13288											
HEBP1	50865	broad.mit.edu	37	chr12	13128322	13128322	+	Frame_Shift_Del	DEL	C	C	-													acccgtgcagaagtagatgtCcccccggtaggtggctgtgc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:13128321_13128321TC>T	uc001rbd.3	-	3	686	c.491_491GA>A	c.(490-492)gacfs	p.D164fs		NM_015987	NP_057071	Q9NRV9	HEBP1_HUMAN	Homo sapiens heme binding protein 1 (HEBP1), mRNA.	164					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		GAAGTAGATGTCCCCCCGGTA	0.582													-	13128322	C	-	13128322	7	5	16	1	0	1	0	1	0	0	0	0	7036	855	30	0	83	0	HEBP1	12	13128322	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	497977	13128322	120723573	967	13289											
ATF7IP	55729	broad.mit.edu	37	chr12	14577802	14577803	+	Frame_Shift_Ins	INS	-	-	A													aaagatgatgattttcttgaINSaaaaaatggagctgatgaaa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:14577801_14577802G>GA	uc001rbw.3	+	1	1110_1111	c.952_953G>GA	c.(952-954)gaafs	p.E318fs	ATF7IP_uc010shs.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbu.3_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbv.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbx.3_Frame_Shift_Ins_p.E318fs|ATF7IP_uc010sht.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rby.4_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbz.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rca.3_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rcb.3_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	318					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TGATTTTCTTGAAAAAAATGGA	0.317													A	14577803	-	A	14577802	7	5	16	1	0	1	1	0	0	0	0	0	1087	246	9	0	955	0	ATF7IP	12	14577802	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1449480	14577802	119274093	968	13290											
ATF7IP	55729	broad.mit.edu	37	chr12	14578360	14578360	+	Frame_Shift_Del	DEL	A	A	-													tgaagaggatatttcgggtgAaaaagatgagtctgaagtta							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:14578359_14578359GA>G	uc001rbw.3	+	1	1668	c.1510_1510GA>G	c.(1510-1512)gaafs	p.E504fs	ATF7IP_uc010shs.1_Frame_Shift_Del_p.E504fs|ATF7IP_uc001rbu.3_Frame_Shift_Del_p.E504fs|ATF7IP_uc001rbv.1_Frame_Shift_Del_p.E504fs|ATF7IP_uc001rbx.3_Frame_Shift_Del_p.E504fs|ATF7IP_uc010sht.1_Frame_Shift_Del_p.E504fs|ATF7IP_uc001rby.4_Frame_Shift_Del_p.E504fs|ATF7IP_uc001rbz.1_Frame_Shift_Del_p.E504fs|ATF7IP_uc001rca.3_Frame_Shift_Del_p.E504fs|ATF7IP_uc001rcb.3_Frame_Shift_Del_p.E115fs	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	504	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TATTTCGGGTGAAAAAGATGA	0.353													-	14578360	A	-	14578360	7	5	16	1	0	1	0	1	0	0	0	0	1087	246	9	0	1513	0	ATF7IP	12	14578360	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	558	14578360	119273535	969	13291											
PLCZ1	89869	broad.mit.edu	37	chr12	18889158	18889158	+	Frame_Shift_Del	DEL	A	A	-													ggtggatgtcatcttaccttAaaaatctgtttcacatgaat							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:18889158delA	uc010sid.1	-	3	323	c.132delT	c.(130-132)TTTfs	p.F44fs	PLCZ1_uc001rdv.3_5'UTR|PLCZ1_uc001rdw.3_5'UTR|CAPZA3_uc001rdy.2_5'Flank	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	44	EF-hand.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					ATCTTACCTTAAAAATCTGTT	0.353													-	18889158	A	-	18889158	7	5	16	1	0	1	0	1	0	0	0	0	12044	359	13	0	1746	0	PLCZ1	12	18889158	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	4310798	18889158	114962737	970	13292											
PDE3A	5139	broad.mit.edu	37	chr12	20806894	20806894	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttctagggtgatgaagaggCcagccttggattacccataa	11	8	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:20806894C>A	uc001reh.1	+	15	2961	c.2939C>A	c.(2938-2940)GCC>GAC	p.A980D		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	980	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GATGAAGAGGCCAGCCTTGGA	0.453													A	20806894	C	A	20806894	3	1	16	1	0	0	0	0	1	0	0	0	11637	739	26	5	2997	5	PDE3A	12	20806894	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1917736	20806894	113045001	971	13293											
ABCC9	10060	broad.mit.edu	37	chr12	22005053	22005053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctaattcttgatcttgcCgattcataagtgttttccag	6	8	4	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:22005053C>T	uc001rfi.1	-	22	2767	c.2747G>A	c.(2746-2748)CGG>CAG	p.R916Q	ABCC9_uc001rfh.2_Missense_Mutation_p.R916Q|ABCC9_uc001rfj.1_Missense_Mutation_p.R880Q	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	916	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTGATCTTGCCGATTCATAAG	0.353													T	22005053	C	T	22005053	3	4	16	1	0	0	0	0	1	0	0	0	59	652	23	1	2112	1	ABCC9	12	22005053	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1198159	22005053	111846842	972	13294											
SOX5	6660	broad.mit.edu	37	chr12	23999074	23999074	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttctgccttctgaggtgaGgtagatgagttgtgtggggc	16	6	3	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:23999074G>T	uc001rfw.2	-	3	426	c.324C>A	c.(322-324)ACC>ACA	p.T108T	SOX5_uc001rfx.2_Silent_p.T95T|SOX5_uc001rfy.2_Silent_p.T95T|SOX5_uc010siv.1_Silent_p.T95T|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Silent_p.T60T|SOX5_uc001rga.2_Silent_p.T73T	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	108					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						TCTGAGGTGAGGTAGATGAGT	0.468													T	23999074	G	T	23999074	2	4	16	1	0	0	0	0	0	0	0	1	14954	987	35	5		5	SOX5	12	23999074	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1994021	23999074	109852821	973	13295											
RASSF8	11228	broad.mit.edu	37	chr12	26217838	26217838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagttgaagaagctaatcCgtctgcagacagagaagctt	11	7	1	5	rs146204306	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:26217838C>T	uc001rgx.2	+	3	732	c.511C>T	c.(511-513)CGT>TGT	p.R171C	RASSF8_uc001rgy.2_Missense_Mutation_p.R171C|RASSF8_uc001rgz.2_Missense_Mutation_p.R171C|RASSF8_uc009zjd.1_Missense_Mutation_p.R171C|RASSF8_uc009zje.1_Missense_Mutation_p.R171C	NM_007211	NP_009142	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family	171					signal transduction						0	Colorectal(261;0.0847)					GAAGCTAATCCGTCTGCAGAC	0.358													T	26217838	C	T	26217838	3	4	16	1	0	0	0	0	1	0	0	0	13092	652	23	1	517	1	RASSF8	12	26217838	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2218764	26217838	107634057	974	13296											
ITPR2	3709	broad.mit.edu	37	chr12	26752167	26752167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaggtactccacgtggcGgccatgtgtctcaatgcagt	11	13	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:26752167G>A	uc001rhg.2	-	30	4330	c.3913C>T	c.(3913-3915)CGC>TGC	p.R1305C		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1305	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					TCCACGTGGCGGCCATGTGTC	0.423													A	26752167	G	A	26752167	3	1	16	1	0	0	0	0	1	0	0	0	7921	1116	39	1	4304	1	ITPR2	12	26752167	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	534329	26752167	107099728	975	13297											
KLHDC5	57542	broad.mit.edu	37	chr12	27950929	27950929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtgcgctccataacgacGgcatctacatcatgagcaga	9	12	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:27950929G>A	uc001rij.2	+	3	1425	c.1348G>A	c.(1348-1350)GGC>AGC	p.G450S	KLHDC5_uc009zjj.2_RNA	NM_020782	NP_065833	Q9P2K6	KLDC5_HUMAN	kelch domain containing 5	450	Kelch 6.									ovary(1)|central_nervous_system(1)	2	Lung SC(9;0.0873)					CCATAACGACGGCATCTACAT	0.517													A	27950929	G	A	27950929	3	1	16	1	0	0	0	0	1	0	0	0	8359	1116	39	1	1358	1	KLHDC5	12	27950929	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1198762	27950929	105900966	976	13298											
FAR2	55711	broad.mit.edu	37	chr12	29423430	29423430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagtccattctcatcacGggggccacaggctttctggg	13	12	3	0	rs149661674		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:29423430G>A	uc001ris.3	+	2	195	c.48G>A	c.(46-48)ACG>ACA	p.T16T	FAR2_uc001rit.2_Silent_p.T16T|FAR2_uc009zjm.2_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	16					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0						TTCTCATCACGGGGGCCACAG	0.507													A	29423430	G	A	29423430	2	1	16	1	0	0	0	0	0	0	0	1	5675	1103	39	1		1	FAR2	12	29423430	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1472501	29423430	104428465	977	13299											
DDX11	1663	broad.mit.edu	37	chr12	31249595	31249595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggattcactgaacggtacGgagcagtgttctcatcccgg	12	10	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:31249595G>A	uc001rjt.1	+	16	1797	c.1546G>A	c.(1546-1548)GGA>AGA	p.G516R	DDX11_uc001rjr.1_Missense_Mutation_p.G516R|DDX11_uc001rjs.1_Missense_Mutation_p.G516R|DDX11_uc001rju.1_Missense_Mutation_p.G194R|DDX11_uc001rjv.1_Missense_Mutation_p.G516R|DDX11_uc001rjw.1_Missense_Mutation_p.G490R|DDX11_uc009zjn.1_RNA	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	516					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGAACGGTACGGAGCAGTGTT	0.592										Multiple Myeloma(12;0.14)			A	31249595	G	A	31249595	3	1	16	1	0	0	0	0	1	0	0	0	4343	1117	39	1	1604	1	DDX11	12	31249595	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1826165	31249595	102602300	978	13300											
CPNE8	144402	broad.mit.edu	37	chr12	39223184	39223184	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattaaaaaatacttacactAttggtttttccaggcgactt	5	7	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:39223184A>G	uc001rls.1	-	6	488	c.404T>C	c.(403-405)ATA>ACA	p.I135T		NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	copine VIII	135										pancreas(1)	1	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TACTTACACTATTGGTTTTTC	0.368													G	39223184	A	G	39223184	3	3	16	1	0	0	0	0	1	0	0	0	3818	449	16	3	1350	3	CPNE8	12	39223184	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	7973589	39223184	94628711	979	13301											
PRICKLE1	144165	broad.mit.edu	37	chr12	42859016	42859016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaagcaggcttccgtggCgtgccagtgctgcccgtcat	13	12	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:42859016C>T	uc010skv.1	-	7	1107	c.820G>A	c.(820-822)GCC>ACC	p.A274T	PRICKLE1_uc001rnl.2_Missense_Mutation_p.A274T|PRICKLE1_uc010skw.1_Missense_Mutation_p.A274T|PRICKLE1_uc001rnm.2_Missense_Mutation_p.A274T	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	274	LIM zinc-binding 3.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GCTTCCGTGGCGTGCCAGTGC	0.473													T	42859016	C	T	42859016	3	4	16	1	0	0	0	0	1	0	0	0	12486	768	27	1	1683	1	PRICKLE1	12	42859016	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3635832	42859016	90992879	980	13302											
ARID2	196528	broad.mit.edu	37	chr12	46246296	46246296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcagatgtgcctcagcaaCgcccaagtgtagttgtctca	9	11	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:46246296C>T	uc001ros.1	+	15	4390	c.4390C>T	c.(4390-4392)CGC>TGC	p.R1464C	ARID2_uc001ror.2_Missense_Mutation_p.R1464C|ARID2_uc009zkg.1_Missense_Mutation_p.R920C|ARID2_uc009zkh.1_Missense_Mutation_p.R1091C|ARID2_uc001rou.1_Missense_Mutation_p.R798C	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1464					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCCTCAGCAACGCCCAAGTGT	0.438													T	46246296	C	T	46246296	3	4	16	1	0	0	0	0	1	0	0	0	915	536	19	1	4448	1	ARID2	12	46246296	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3387280	46246296	87605599	981	13303											
ZNF641	121274	broad.mit.edu	37	chr12	48737355	48737355	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atcttcctgaagaaaaggggGccccaggagcattcctctgg	12	11	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:48737355G>C	uc001rrn.1	-	6	883	c.718C>G	c.(718-720)CCC>GCC	p.P240A	ZNF641_uc001rro.1_Missense_Mutation_p.P226A|ZNF641_uc010sls.1_Missense_Mutation_p.P217A	NM_152320	NP_689533	Q96N77	ZN641_HUMAN	zinc finger protein 641	240	Transactivation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						AGAAAAGGGGGCCCCAGGAGC	0.517													C	48737355	G	C	48737355	3	2	16	1	0	0	0	0	1	0	0	0	18054	1203	42	5	602	5	ZNF641	12	48737355	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2491059	48737355	85114540	982	13304											
TROAP	10024	broad.mit.edu	37	chr12	49725381	49725382	+	Frame_Shift_Ins	INS	-	-	C													attccagttggttctgctgcINScccccagggctctccatgat					rs78835037		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:49725380_49725381G>GC	uc009zlh.3	+	13	2754_2755	c.2587_2588G>GC	c.(2587-2589)gccfs	p.A863fs	TROAP_uc001rtx.4_Frame_Shift_Ins_p.A773fs	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	0					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGGTTCTGCTGCCCCCCAGGGC	0.55											OREG0021792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	49725382	-	C	49725381	7	5	16	1	0	1	1	0	0	0	0	0	16572	739	26	0	2474	0	TROAP	12	49725381	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	988026	49725381	84126514	983	13305											
RACGAP1	29127	broad.mit.edu	37	chr12	50386088	50386088	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctggattgggcacagcatgGgccactattgtagggccaaa	13	9	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:50386088G>C	uc001rvt.2	-	16	1828	c.1518C>G	c.(1516-1518)GCC>GCG	p.A506A	RACGAP1_uc009zlm.1_Silent_p.A506A|RACGAP1_uc001rvs.2_Silent_p.A506A|RACGAP1_uc001rvu.2_Silent_p.A506A	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	506	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			kidney(1)	1						GCACAGCATGGGCCACTATTG	0.448													C	50386088	G	C	50386088	2	2	16	1	0	0	0	0	0	0	0	1	12977	1219	43	5		5	RACGAP1	12	50386088	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	660707	50386088	83465807	984	13306											
LARP4	113251	broad.mit.edu	37	chr12	50847267	50847268	+	Frame_Shift_Ins	INS	-	-	T													gataaaagccatcaatacatINStttttgctaagaatggttat							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:50847266_50847267A>AT	uc001rwp.2	+	8	1030_1031	c.828_829A>AT	c.(826-831)acatttfs	p.T276fs	LARP4_uc001rwq.2_Intron|LARP4_uc001rwt.2_Intron|LARP4_uc001rws.2_Frame_Shift_Ins_p.T275fs|LARP4_uc001rwr.2_Frame_Shift_Ins_p.T276fs|LARP4_uc021qxv.1_Frame_Shift_Ins_p.T206fs|LARP4_uc009zlr.1_Frame_Shift_Ins_p.T95fs|LARP4_uc001rwm.3_Frame_Shift_Ins_p.T276fs|LARP4_uc001rwn.3_Frame_Shift_Ins_p.T206fs	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	276	RRM.						RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CCATCAATACATTTTTTGCTAA	0.322													T	50847268	-	T	50847267	7	5	16	1	0	1	1	0	0	0	0	0	8630	1493	52	0	863	0	LARP4	12	50847267	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	461179	50847267	83004628	985	13307											
SLC11A2	4891	broad.mit.edu	37	chr12	51394196	51394196	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcagccacaggatgactcGtgggacctaaacatcaaaca	8	12	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:51394196G>A	uc001rxe.3	-	6	533	c.436C>T	c.(436-438)CGA>TGA	p.R146*	SLC11A2_uc001rxd.3_Translation_Start_Site|SLC11A2_uc001rxc.3_Nonsense_Mutation_p.R146*|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc010smx.1_Nonsense_Mutation_p.R142*|SLC11A2_uc001rxh.1_Nonsense_Mutation_p.R146*|SLC11A2_uc001rxj.1_Nonsense_Mutation_p.R146*|SLC11A2_uc001rxi.2_Nonsense_Mutation_p.R146*|SLC11A2_uc001rxk.1_Nonsense_Mutation_p.R175*|SLC11A2_uc010smy.1_Nonsense_Mutation_p.R109*	NM_000617	NP_000608	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled	146	Cytoplasmic (Potential).				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			large_intestine(1)	1						AGGATGACTCGTGGGACCTAA	0.418													A	51394196	G	A	51394196	4	1	16	1	0	0	0	0	0	1	0	0	14381	1153	40	1	1375	1	SLC11A2	12	51394196	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	546929	51394196	82457699	986	13308											
SLC4A8	9498	broad.mit.edu	37	chr12	51844775	51844775	+	Frame_Shift_Del	DEL	G	G	-													cggggcaaaggagccagccaGggggaggaaggcctggaagc					rs139949142		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:51844775delG	uc001rys.1	+	3	424	c.246delG	c.(244-246)CAGfs	p.Q82fs	SLC4A8_uc010sni.1_Frame_Shift_Del_p.Q29fs|SLC4A8_uc001rym.2_Frame_Shift_Del_p.Q29fs|SLC4A8_uc001ryn.2_Frame_Shift_Del_p.Q29fs|SLC4A8_uc001ryo.2_Frame_Shift_Del_p.Q29fs|SLC4A8_uc001ryp.1_Frame_Shift_Del_p.Q29fs|SLC4A8_uc010snj.1_Frame_Shift_Del_p.Q109fs|SLC4A8_uc001ryq.3_Frame_Shift_Del_p.Q82fs|SLC4A8_uc001ryr.2_Frame_Shift_Del_p.Q82fs|SLC4A8_uc010snk.1_Frame_Shift_Del_p.Q29fs	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	82	Extracellular (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.15)		GAGCCAGCCAGGGGGAGGAAG	0.672													-	51844775	G	-	51844775	7	5	16	1	0	1	0	1	0	0	0	0	14659	991	35	0	256	0	SLC4A8	12	51844775	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	450579	51844775	82007120	987	13309											
KRT85	3891	broad.mit.edu	37	chr12	52761184	52761184	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcctgtaggagcggcaCgacatcgtgtgaggctgagc	15	10	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:52761184C>T	uc001sag.2	-	1	126	c.6G>A	c.(4-6)TCG>TCA	p.S2S		NM_002283	NP_002274	P78386	KRT85_HUMAN	keratin 85	2	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			ovary(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGAGCGGCACGACATCGTGT	0.622													T	52761184	C	T	52761184	2	4	16	1	0	0	0	0	0	0	0	1	8499	523	19	1		1	KRT85	12	52761184	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	916409	52761184	81090711	988	13310											
CALCOCO1	57658	broad.mit.edu	37	chr12	54107930	54107930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggactcagccccacagcGgcctcctcatcctctgtggt	9	18	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:54107930G>A	uc001sef.2	-	12	1722	c.1578C>T	c.(1576-1578)GCC>GCT	p.A526A	CALCOCO1_uc001see.2_Silent_p.A27A|CALCOCO1_uc010som.1_Silent_p.A441A|CALCOCO1_uc010son.1_Silent_p.A403A|CALCOCO1_uc001seh.2_Silent_p.A526A|CALCOCO1_uc009znd.2_Silent_p.A526A|CALCOCO1_uc001seg.2_Silent_p.A351A|CALCOCO1_uc010soo.1_Silent_p.A519A	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	coiled-coil transcriptional coactivator isoform	526	C-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			ovary(1)	1						GCCCCACAGCGGCCTCCTCAT	0.562													A	54107930	G	A	54107930	2	1	16	1	0	0	0	0	0	0	0	1	2577	1103	39	1		1	CALCOCO1	12	54107930	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1346746	54107930	79743965	989	13311											
HOXC13	3229	broad.mit.edu	37	chr12	54338837	54338837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggcgcgggcgcaagaaaCgcgtgccctacactaaggtg	14	13	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:54338837C>T	uc001sei.2	+	2	905	c.790C>T	c.(790-792)CGC>TGC	p.R264C	HOXC13_uc010sop.1_RNA	NM_017410	NP_059106	P31276	HXC13_HUMAN	homeobox C13	264	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						GCGCAAGAAACGCGTGCCCTA	0.617			T	NUP98	AML								T	54338837	C	T	54338837	3	4	16	1	0	0	0	0	1	0	0	0	7312	536	19	1	796	1	HOXC13	12	54338837	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	230907	54338837	79513058	990	13312											
HOXC12	3228	broad.mit.edu	37	chr12	54350327	54350327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaaagacttctgttgaggGagcaagctctctccttcttt	9	9	3	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:54350327G>A	uc010soq.1	+	2	826	c.826G>A	c.(826-828)GAG>AAG	p.E276K		NM_173860	NP_776272	P31275	HXC12_HUMAN	homeobox C12	276					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1						TCTGTTGAGGGAGCAAGCTCT	0.547													A	54350327	G	A	54350327	3	1	16	1	0	0	0	0	1	0	0	0	7311	1175	41	4	832	4	HOXC12	12	54350327	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	11490	54350327	79501568	991	13313											
ITGA7	3679	broad.mit.edu	37	chr12	56094788	56094788	+	Frame_Shift_Del	DEL	G	G	-													cccaaattgttcatggccttGggggcgtccctcacagaact							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:56094787_56094787TG>T	uc001shh.3	-	3	786	c.566_566CA>A	c.(565-567)caafs	p.Q189fs	ITGA7_uc001shg.3_Frame_Shift_Del_p.Q189fs|ITGA7_uc010sps.2_Frame_Shift_Del_p.Q92fs|ITGA7_uc009znx.3_Frame_Shift_Del_p.Q76fs	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	189					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTCATGGCCTTGGGGGCGTCC	0.582													-	56094788	G	-	56094788	7	5	16	1	0	1	0	1	0	0	0	0	7881	1357	47	0	3072	0	ITGA7	12	56094788	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	1744461	56094788	77757107	992	13314											
CDK2	1017	broad.mit.edu	37	chr12	56362650	56362650	+	Frame_Shift_Del	DEL	T	T	-													taaacctcagaatctgcttaTtaacacagagggggccatca							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:56362650delT	uc001sit.3	+	4	641	c.404delT	c.(403-405)ATTfs	p.I135fs	CDK2_uc001siu.3_Frame_Shift_Del_p.I135fs|CDK2_uc010spy.1_Frame_Shift_Del_p.I109fs	NM_001798	NP_001789	P24941	CDK2_HUMAN	cyclin-dependent kinase 2 isoform 1	135	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding			stomach(1)|central_nervous_system(1)	2			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			AATCTGCTTATTAACACAGAG	0.507													-	56362650	T	-	56362650	7	5	16	1	0	1	0	1	0	0	0	0	3136	1493	52	0	418	0	CDK2	12	56362650	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	267862	56362650	77489245	993	13315											
PA2G4	5036	broad.mit.edu	37	chr12	56504448	56504448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcagtgaggtggaaaggCgttttgatgccatgccgttt	13	7	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:56504448C>T	uc001sjm.2	+	9	1233	c.814C>T	c.(814-816)CGT>TGT	p.R272C	PA2G4_uc009zol.2_Missense_Mutation_p.R272C|PA2G4_uc009zom.2_Missense_Mutation_p.R272C	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	ErbB3-binding protein 1	272					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GGTGGAAAGGCGTTTTGATGC	0.443													T	56504448	C	T	56504448	3	4	16	1	0	0	0	0	1	0	0	0	11361	768	27	1	848	1	PA2G4	12	56504448	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	141798	56504448	77347447	994	13316											
SMARCC2	6601	broad.mit.edu	37	chr12	56563355	56563355	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagggcggcggcagcagcGgtggagaggttgccctcgcc	19	13	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:56563355G>A	uc001skb.2	-	24	2686	c.2580C>T	c.(2578-2580)ACC>ACT	p.T860T	SMARCC2_uc001skd.2_Silent_p.T891T|SMARCC2_uc001ska.2_Silent_p.T891T|SMARCC2_uc001skc.2_Silent_p.T890T|SMARCC2_uc010sqf.1_Silent_p.T780T	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	860					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			cggcagcagcggtggAGAGGT	0.219													A	56563355	G	A	56563355	2	1	16	1	0	0	0	0	0	0	0	1	14776	1103	39	1		1	SMARCC2	12	56563355	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	58907	56563355	77288540	995	13317											
OBFC2B	79035	broad.mit.edu	37	chr12	56622977	56622977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagtaacggcaaagaaaccCggaggagcagcaagagatag	13	7	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:56622977C>T	uc001ski.2	+	7	740	c.616C>T	c.(616-618)CGG>TGG	p.R206W	OBFC2B_uc001skk.2_Missense_Mutation_p.R231W|OBFC2B_uc001skj.2_Missense_Mutation_p.R222W	NM_024068	NP_076973	Q9BQ15	SOSB1_HUMAN	oligonucleotide/oligosaccharide-binding fold	206					double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	protein binding|single-stranded DNA binding			ovary(1)	1						CAAAGAAACCCGGAGGAGCAG	0.577								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					T	56622977	C	T	56622977	3	4	16	1	0	0	0	0	1	0	0	0	10809	643	23	1	638	1	OBFC2B	12	56622977	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	59622	56622977	77228918	996	13318											
PAN2	9924	broad.mit.edu	37	chr12	56718087	56718087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatttcatacctgcctccaGcacctcgataagcctgtggt	8	13	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:56718087G>A	uc001skx.2	-	12	2292	c.1919C>T	c.(1918-1920)GCT>GTT	p.A640V	PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.A640V|PAN2_uc001sky.2_Missense_Mutation_p.A640V	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	640					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						CCTGCCTCCAGCACCTCGATA	0.458													A	56718087	G	A	56718087	3	1	16	1	0	0	0	0	1	0	0	0	11414	971	34	2	1749	2	PAN2	12	56718087	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	95110	56718087	77133808	997	13319											
BAZ2A	11176	broad.mit.edu	37	chr12	56995134	56995134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccaacccagccaagggcGtggaagagaactgcactgga	15	11	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:56995134G>A	uc001slq.1	-	21	4324	c.4130C>T	c.(4129-4131)ACG>ATG	p.T1377M	BAZ2A_uc001slp.1_Missense_Mutation_p.T1375M|BAZ2A_uc001slo.1_Missense_Mutation_p.T205M|BAZ2A_uc009zov.1_Missense_Mutation_p.T347M|BAZ2A_uc009zow.1_Missense_Mutation_p.T1345M	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1377	Pro-rich.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding				0						AGCCAAGGGCGTGGAAGAGAA	0.517													A	56995134	G	A	56995134	3	1	16	1	0	0	0	0	1	0	0	0	1331	1145	40	1	1623	1	BAZ2A	12	56995134	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	277047	56995134	76856761	998	13320											
LRP1	4035	broad.mit.edu	37	chr12	57578171	57578171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtctcggctagatggcaCggagcgtgtggtgctggtca	18	9	2	1	rs148823753	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:57578171C>T	uc001snd.2	+	38	6588	c.6122C>T	c.(6121-6123)ACG>ATG	p.T2041M		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	2041	LDL-receptor class B 19.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTAGATGGCACGGAGCGTGTG	0.592													T	57578171	C	T	57578171	3	4	16	1	0	0	0	0	1	0	0	0	8951	536	19	1	6272	1	LRP1	12	57578171	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	583037	57578171	76273724	999	13321											
SHMT2	6472	broad.mit.edu	37	chr12	57625344	57625344	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggttatcctggcaagagGtgagggctggagggcagtgt	20	5	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:57625344G>A	uc001snf.1	+	3	321	c.311_splice	c.e3+1	p.R104_splice	SHMT2_uc001sng.1_Splice_Site|SHMT2_uc001snh.1_Intron|SHMT2_uc009zpk.1_Splice_Site_p.R104_splice|SHMT2_uc001sni.1_Splice_Site_p.R83_splice|SHMT2_uc010srg.1_Intron|SHMT2_uc001snj.1_Intron|SHMT2_uc010srh.1_Splice_Site_p.R83_splice|SHMT2_uc001snk.1_Intron|SHMT2_uc010sri.1_Splice_Site_p.R83_splice|SHMT2_uc001snl.2_Splice_Site|SHMT2_uc010srj.1_5'Flank	NM_005412	NP_005403	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2							microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			ovary(1)|central_nervous_system(1)	2					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTGGCAAGAGGTGAGGGCTGG	0.597													A	57625344	G	A	57625344	5	1	16	1	0	0	0	0	0	0	1	0	14286	1275	44	4	322	4	SHMT2	12	57625344	Splice_Site	SNP	G	TCGA-BR-4292-01A-01D-1126-08	47173	57625344	76226551	1000	13322											
ARHGAP9	64333	broad.mit.edu	37	chr12	57867953	57867953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtactgtccaaatctaacCgaccttctggagggagaagg	11	10	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:57867953C>T	uc001sod.2	-	19	2253	c.2060G>A	c.(2059-2061)CGG>CAG	p.R687Q	ARHGAP9_uc001sny.2_Intron|ARHGAP9_uc001snz.2_Missense_Mutation_p.R413Q|ARHGAP9_uc001soa.2_Missense_Mutation_p.R286Q|ARHGAP9_uc001sob.2_Missense_Mutation_p.R597Q|ARHGAP9_uc001soc.2_Missense_Mutation_p.R597Q|ARHGAP9_uc001soe.1_Missense_Mutation_p.R676Q	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9 isoform 1	616	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			lung(1)	1			GBM - Glioblastoma multiforme(3;3.37e-34)			CAAATCTAACCGACCTTCTGG	0.517													T	57867953	C	T	57867953	3	4	16	1	0	0	0	0	1	0	0	0	889	652	23	1	417	1	ARHGAP9	12	57867953	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	242609	57867953	75983942	1001	13323											
MBD6	114785	broad.mit.edu	37	chr12	57921401	57921401	+	Frame_Shift_Del	DEL	C	C	-													ccccctccaactcagggagaCccccccaactccttagccct							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:57921400_57921400AC>A	uc001soj.1	+	7	2417	c.2193_2193AC>A	c.(2191-2193)agafs	p.R731fs	MBD6_uc001sok.1_Frame_Shift_Del_p.R598fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	731	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACTCAGGGAGACCCCCCCAAC	0.602													-	57921401	C	-	57921401	7	5	16	1	0	1	0	1	0	0	0	0	9348	507	18	0	2216	0	MBD6	12	57921401	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	53448	57921401	75930494	1002	13324											
MON2	23041	broad.mit.edu	37	chr12	62960172	62960172	+	Frame_Shift_Del	DEL	A	A	-													agtagttgtggatttataccAaaaaacagcgtgtcacaaag							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:62960171_62960171CA>C	uc001sre.3	+	28	4655	c.4264_4264CA>C	c.(4264-4266)caafs	p.Q1422fs	MON2_uc010ssn.2_Frame_Shift_Del_p.Q1416fs|MON2_uc009zqj.3_Frame_Shift_Del_p.Q1422fs|MON2_uc010ssl.2_Frame_Shift_Del_p.Q1350fs|MON2_uc010ssm.2_Frame_Shift_Del_p.Q1393fs|MON2_uc001srf.3_Frame_Shift_Del_p.Q1185fs|MON2_uc001srg.3_Frame_Shift_Del_p.Q291fs	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	1423					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GGATTTATACCAAAAAACAGC	0.358													-	62960172	A	-	62960172	7	5	16	1	0	1	0	1	0	0	0	0	9700	130	5	0	4379	0	MON2	12	62960172	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	5038771	62960172	70891723	1003	13325											
C12orf66	144577	broad.mit.edu	37	chr12	64609628	64609628	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaaggagttcttccacGtgaggagcagtcccacccag	13	11	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:64609628G>A	uc001srw.3	-	2	410	c.351C>T	c.(349-351)CAC>CAT	p.H117H	C12orf66_uc009zql.2_Silent_p.H64H	NM_152440	NP_689653	Q96MD2	CL066_HUMAN	hypothetical protein LOC144577	117										ovary(1)	1						GTTCTTCCACGTGAGGAGCAG	0.527													A	64609628	G	A	64609628	2	1	16	1	0	0	0	0	0	0	0	1	1709	1136	40	1		1	C12orf66	12	64609628	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1649456	64609628	69242267	1004	13326											
TMBIM4	51643	broad.mit.edu	37	chr12	66546105	66546105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgtctgtttaaaatcaaCgcaaaaatcaaacccagaga	5	8	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:66546105C>T	uc001stc.2	-	3	334	c.258G>A	c.(256-258)GCG>GCA	p.A86A	LLPH_uc010ssx.1_RNA|TMBIM4_uc001std.2_Silent_p.A55A|TMBIM4_uc009zqr.2_Silent_p.A133A|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_Silent_p.A86A|TMBIM4_uc009zqs.2_Silent_p.A86A	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	86	Helical; (Potential).					integral to membrane	protein binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(28;0.0745)		TTAAAATCAACGCAAAAATCA	0.348													T	66546105	C	T	66546105	2	4	16	1	0	0	0	0	0	0	0	1	15979	523	19	1		1	TMBIM4	12	66546105	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1936477	66546105	67305790	1005	13327											
GRIP1	23426	broad.mit.edu	37	chr12	66771012	66771012	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccaaatcctccagcgcttgaGaccagaagttctcctcttgt	7	14	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:66771012G>A	uc001stk.2	-	20	2760	c.2519C>T	c.(2518-2520)TCT>TTT	p.S840F	GRIP1_uc010sta.1_Missense_Mutation_p.S784F|GRIP1_uc001stj.2_Missense_Mutation_p.S622F|GRIP1_uc001stl.1_Missense_Mutation_p.S732F|GRIP1_uc001stm.2_Missense_Mutation_p.S840F	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	892					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CAGCGCTTGAGACCAGAAGTT	0.473													A	66771012	G	A	66771012	3	1	16	1	0	0	0	0	1	0	0	0	6787	942	33	4	731	4	GRIP1	12	66771012	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	224907	66771012	67080883	1006	13328											
LGR5	8549	broad.mit.edu	37	chr12	71974201	71974201	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaatgtttcaggctcAaggtaggacttgctatgcca	12	8	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:71974201A>G	uc001swl.2	+	16	1598	c.1550A>G	c.(1549-1551)CAA>CGA	p.Q517R	LGR5_uc001swm.2_Missense_Mutation_p.Q493R|LGR5_uc001swn.1_RNA	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	517	Extracellular (Potential).					integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						TTTCAGGCTCAAGGTAGGACT	0.368													G	71974201	A	G	71974201	3	3	16	1	0	0	0	0	1	0	0	0	8757	130	5	3	1612	3	LGR5	12	71974201	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	5203189	71974201	61877694	1007	13329											
NAP1L1	4673	broad.mit.edu	37	chr12	76461164	76461164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtacctttcaatgtatcCtgttggtgtttctaccagac	8	10	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:76461164C>T	uc001sxw.2	-	4	605	c.193G>A	c.(193-195)GGA>AGA	p.G65R	NAP1L1_uc001sxv.2_Missense_Mutation_p.G23R|NAP1L1_uc001sxz.2_Missense_Mutation_p.G23R|NAP1L1_uc001sxx.2_Missense_Mutation_p.G65R|NAP1L1_uc001sxy.2_Intron|NAP1L1_uc010sty.1_Missense_Mutation_p.G23R|NAP1L1_uc010stz.1_Intron|NAP1L1_uc010sua.1_Missense_Mutation_p.G65R|NAP1L1_uc001syb.2_Missense_Mutation_p.G65R|NAP1L1_uc001sya.2_Missense_Mutation_p.G23R|NAP1L1_uc001syc.2_Missense_Mutation_p.G65R	NM_139207	NP_631946	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	65					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			ovary(1)|skin(1)	2		Colorectal(145;0.09)				TCAATGTATCCTGTTGGTGTT	0.363													T	76461164	C	T	76461164	3	4	16	1	0	0	0	0	1	0	0	0	10156	690	24	4	1030	4	NAP1L1	12	76461164	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	4486963	76461164	57390731	1008	13330											
E2F7	144455	broad.mit.edu	37	chr12	77440093	77440093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttacaatgtcatagatgCgtctcctttccacacctgtt	5	12	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:77440093C>T	uc001sym.3	-	5	790	c.554G>A	c.(553-555)CGC>CAC	p.R185H	E2F7_uc001syn.2_Missense_Mutation_p.R185H	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	185	Potential.			R->A: Loss of DNA-binding and inhibition of E2F1-dependent activation.	cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						GTCATAGATGCGTCTCCTTTC	0.488													T	77440093	C	T	77440093	3	4	16	1	0	0	0	0	1	0	0	0	4872	768	27	1	2217	1	E2F7	12	77440093	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	978929	77440093	56411802	1009	13331											
LIN7A	8825	broad.mit.edu	37	chr12	81283062	81283062	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtacaaaactcactctgaaGcacttttttgagggattgta	8	7	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:81283062G>T	uc001szj.1	-	2	362	c.169C>A	c.(169-171)CTT>ATT	p.L57I	LIN7A_uc001szk.1_RNA	NM_004664	NP_004655	O14910	LIN7A_HUMAN	lin-7 homolog A	57	L27.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			ovary(1)|skin(1)	2						TCACTCTGAAGCACTTTTTTG	0.353													T	81283062	G	T	81283062	3	4	16	1	0	0	0	0	1	0	0	0	8810	971	34	5	548	5	LIN7A	12	81283062	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	3842969	81283062	52568833	1010	13332											
TMTC2	160335	broad.mit.edu	37	chr12	83324294	83324294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaaatgctttgtactaccGcagcaacatggctgacatgc	9	10	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:83324294G>A	uc001szt.2	+	4	2000	c.1568G>A	c.(1567-1569)CGC>CAC	p.R523H	TMTC2_uc001szr.1_Missense_Mutation_p.R523H|TMTC2_uc001szs.1_Missense_Mutation_p.R523H|TMTC2_uc010suk.1_Missense_Mutation_p.R278H	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	523	TPR 2.					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						TTGTACTACCGCAGCAACATG	0.418													A	83324294	G	A	83324294	3	1	16	1	0	0	0	0	1	0	0	0	16258	1087	38	1	1582	1	TMTC2	12	83324294	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2041232	83324294	50527601	1011	13333											
SLC6A15	55117	broad.mit.edu	37	chr12	85266867	85266867	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaattaatattcatactGtgtaatgcatttctcattta	5	5	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:85266867G>A	uc001szv.2	-	7	1601	c.1108C>T	c.(1108-1110)CAA>TAA	p.Q370*	SLC6A15_uc010sul.1_Nonsense_Mutation_p.Q263*|SLC6A15_uc001szw.1_Nonsense_Mutation_p.Q78*	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	370	Extracellular (Potential).				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3						TATTCATACTGTGTAATGCAT	0.264													A	85266867	G	A	85266867	4	1	16	1	0	0	0	0	0	1	0	0	14678	1391	48	4	1108	4	SLC6A15	12	85266867	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1942573	85266867	48585028	1012	13334											
LRRIQ1	84125	broad.mit.edu	37	chr12	85547850	85547850	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggcacagaaaatgaaatcGaagaaactaaagaaaaaaat	8	4	0	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:85547850G>A	uc001tac.2	+	23	4809	c.4698G>A	c.(4696-4698)TCG>TCA	p.S1566S		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1566										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		AAATGAAATCGAAGAAACTAA	0.264													A	85547850	G	A	85547850	2	1	16	1	0	0	0	0	0	0	0	1	9029	1045	37	1		1	LRRIQ1	12	85547850	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	280983	85547850	48304045	1013	13335											
KERA	11081	broad.mit.edu	37	chr12	91449951	91449951	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacactcgaagtcatgaatAgtccaatcatctgaatcatg	8	9	4	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:91449951A>G	uc001tbl.2	-	2	727	c.108T>C	c.(106-108)ACT>ACC	p.T36T		NM_007035	NP_008966	O60938	KERA_HUMAN	keratocan precursor	36	LRRNT.				response to stimulus|visual perception	proteinaceous extracellular matrix				skin(1)	1						AGTCATGAATAGTCCAATCAT	0.408													G	91449951	A	G	91449951	2	3	16	1	0	0	0	0	0	0	0	1	8143	407	15	3		3	KERA	12	91449951	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	5902101	91449951	42401944	1014	13336											
APAF1	317	broad.mit.edu	37	chr12	99071207	99071208	+	Frame_Shift_Ins	INS	-	-	A													tttccctgtatttagaaacaINSaaaaaaacatcacgaatctt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:99071206_99071207C>CA	uc001tfz.3	+	12	2374_2375	c.1797_1798C>CA	c.(1795-1800)aacaaafs	p.N599fs	APAF1_uc001tfy.3_Frame_Shift_Ins_p.N588fs|APAF1_uc001tga.3_Frame_Shift_Ins_p.N588fs|APAF1_uc001tgb.3_Frame_Shift_Ins_p.N599fs|APAF1_uc001tgc.3_Intron|APAF1_uc009zto.3_Frame_Shift_Ins_p.N8fs	NM_181861	NP_863651	O14727	APAF_HUMAN	Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	599					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding	p.N602fs*23(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TATTTAGAAACAAAAAAAACAT	0.347													A	99071208	-	A	99071207	7	5	16	1	0	1	1	0	0	0	0	0	755	131	5	0	1844	0	APAF1	12	99071207	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	7621256	99071207	34780688	1015	13337											
STAB2	55576	broad.mit.edu	37	chr12	104030991	104030991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaatgccttcccaattaccGaggcgatggcaaatactgcg	9	12	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:104030991G>A	uc001tjw.2	+	7	872	c.686G>A	c.(685-687)CGA>CAA	p.R229Q		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	229	Extracellular (Potential).|EGF-like 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CCCAATTACCGAGGCGATGGC	0.408													A	104030991	G	A	104030991	3	1	16	1	0	0	0	0	1	0	0	0	15237	1058	37	1	712	1	STAB2	12	104030991	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	4959784	104030991	29820904	1016	13338											
TXNRD1	7296	broad.mit.edu	37	chr12	104733053	104733053	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctgtctgtgcagaggTgggtcatctacacttataca	9	12	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:104733053T>C	uc010swk.1	+	16	1903	c.1881_splice	c.e16+2	p.E627_splice	TXNRD1_uc010swl.1_Splice_Site_p.E477_splice|TXNRD1_uc010swm.1_Splice_Site_p.E529_splice|TXNRD1_uc010swn.1_Splice_Site_p.E477_splice|TXNRD1_uc010swo.1_Splice_Site_p.E477_splice|TXNRD1_uc010swp.1_Splice_Site_p.E439_splice|TXNRD1_uc010swq.1_Splice_Site_p.E527_splice|TXNRD1_uc001tku.2_Splice_Site|TXNRD1_uc009zun.2_Splice_Site_p.E543_splice	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN	thioredoxin reductase 1 isoform 3						cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity				0						TGTGCAGAGGTGGGTCATCTA	0.463													C	104733053	T	C	104733053	5	2	16	1	0	0	0	0	0	0	1	0	16804	1710	59	3	1959	3	TXNRD1	12	104733053	Splice_Site	SNP	T	TCGA-BR-4292-01A-01D-1126-08	702062	104733053	29118842	1017	13339											
USP30	84749	broad.mit.edu	37	chr12	109509471	109509471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattggaagatgagcgagacCgccagcctcgggtcacacat	12	12	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:109509471C>T	uc010sxi.1	+	5	639	c.535C>T	c.(535-537)CGC>TGC	p.R179C	USP30_uc001tnu.3_Missense_Mutation_p.R148C	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	179	Cytoplasmic (Potential).				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(1)	1						TGAGCGAGACCGCCAGCCTCG	0.438													T	109509471	C	T	109509471	3	4	16	1	0	0	0	0	1	0	0	0	17058	652	23	1	553	1	USP30	12	109509471	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	4776418	109509471	24342424	1018	13340											
MVK	4598	broad.mit.edu	37	chr12	110019240	110019240	+	Frame_Shift_Del	DEL	C	C	-													tcgtagtgtggtcggagctgCcccccggggcgggcttgggc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:110019240delC	uc001toy.3	+	5	596	c.412delC	c.(412-414)CCCfs	p.P138fs	MVK_uc009zvk.2_Frame_Shift_Del_p.P138fs|MVK_uc010sxr.1_Intron|MVK_uc001toz.3_Intron|MVK_uc001tpc.3_RNA	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	mevalonate kinase	138	ATP (By similarity).				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity				0						GTCGGAGCTGCCCCCCGGGGC	0.667													-	110019240	C	-	110019240	7	5	16	1	0	1	0	1	0	0	0	0	9995	739	26	0	426	0	MVK	12	110019240	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	509769	110019240	23832655	1019	13341											
C12orf34	84915	broad.mit.edu	37	chr12	110206924	110206924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcccagcaagagtgtgtGcaacacatcggtgctgagca	12	12	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:110206924G>A	uc001tpd.1	+	3	1749	c.1190G>A	c.(1189-1191)TGC>TAC	p.C397Y	MGC14436_uc010sxs.1_Intron|MGC14436_uc001tpe.2_Intron|C12orf34_uc001tpf.1_Missense_Mutation_p.C397Y	NM_032829	NP_116218	Q5U5X8	CL034_HUMAN	hypothetical protein LOC84915	397										ovary(1)	1						AAGAGTGTGTGCAACACATCG	0.672													A	110206924	G	A	110206924	3	1	16	1	0	0	0	0	1	0	0	0	1681	1319	46	2	1196	2	C12orf34	12	110206924	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	187684	110206924	23644971	1020	13342											
C12orf51	283450	broad.mit.edu	37	chr12	112696395	112696395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgggttttaagcagcaaCgccgtctgaaacacaaaacc	8	12	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:112696395C>T	uc009zwc.2	-	13	1755	c.1737G>A	c.(1735-1737)GCG>GCA	p.A579A	C12orf51_uc010syk.1_Silent_p.A402A|C12orf51_uc001tts.2_Silent_p.A402A|C12orf51_uc001ttt.3_Silent_p.A400A	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						TAAGCAGCAACGCCGTCTGAA	0.478													T	112696395	C	T	112696395	2	4	16	1	0	0	0	0	0	0	0	1	1696	523	19	1		1	C12orf51	12	112696395	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2489471	112696395	21155500	1021	13343											
TBX5	6910	broad.mit.edu	37	chr12	114793517	114793517	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaggctggtgggccacggaGgtctggtgctggaacattcc	16	10	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:114793517G>T	uc001tvo.2	-	9	1872	c.1377C>A	c.(1375-1377)ACC>ACA	p.T459T	TBX5_uc001tvp.2_Silent_p.T459T|TBX5_uc001tvq.2_Silent_p.T409T	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	459				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGGCCACGGAGGTCTGGTGCT	0.662													T	114793517	G	T	114793517	2	4	16	1	0	0	0	0	0	0	0	1	15658	987	35	5		5	TBX5	12	114793517	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2097122	114793517	19058378	1022	13344											
NOS1	4842	broad.mit.edu	37	chr12	117672425	117672425	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccatctggttgacaggCggcgcgtcctccagccgctc	11	16	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:117672425C>T	uc001twm.1	-	21	3866	c.3180G>A	c.(3178-3180)CCG>CCA	p.P1060P		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1060	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGTTGACAGGCGGCGCGTCCT	0.627													T	117672425	C	T	117672425	2	4	16	1	0	0	0	0	0	0	0	1	10541	755	27	1		1	NOS1	12	117672425	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2878908	117672425	16179470	1023	13345											
NOS1	4842	broad.mit.edu	37	chr12	117728174	117728174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcttgaccttgaggaagcGtggacacttggaggggctgc	16	8	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:117728174G>A	uc001twm.1	-	4	1596	c.910C>T	c.(910-912)CGC>TGC	p.R304C		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	304					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTGAGGAAGCGTGGACACTTG	0.547													A	117728174	G	A	117728174	3	1	16	1	0	0	0	0	1	0	0	0	10541	1145	40	1	3498	1	NOS1	12	117728174	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	55749	117728174	16123721	1024	13346											
PRKAB1	5564	broad.mit.edu	37	chr12	120110208	120110208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttcgatggacggggggcGgaaaggaagtttacttatct	15	5	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:120110208G>A	uc009zwu.2	+	3	365	c.262G>A	c.(262-264)GGA>AGA	p.G88R	PRKAB1_uc001txg.2_Missense_Mutation_p.G88R	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN	AMP-activated protein kinase beta 1	88					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol					0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	GACGGGGGGCGGAAAGGAAGT	0.507													A	120110208	G	A	120110208	3	1	16	1	0	0	0	0	1	0	0	0	12495	1117	39	1	268	1	PRKAB1	12	120110208	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2382034	120110208	13741687	1025	13347											
GCN1L1	10985	broad.mit.edu	37	chr12	120585995	120585995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctccgggttcctgataaCggagccgatctgcctgagcg	13	12	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:120585995C>T	uc001txo.2	-	37	4715	c.4702G>A	c.(4702-4704)GTT>ATT	p.V1568I		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1568	HEAT 9.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCCTGATAACGGAGCCGATC	0.602													T	120585995	C	T	120585995	3	4	16	1	0	0	0	0	1	0	0	0	6299	536	19	1	3401	1	GCN1L1	12	120585995	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	475787	120585995	13265900	1026	13348											
PXN	5829	broad.mit.edu	37	chr12	120651713	120651713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagttctccaggatggcccGggcgcagccgccacacttgg	13	14	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:120651713G>A	uc001txt.2	-	11	1572	c.1441C>T	c.(1441-1443)CGG>TGG	p.R481W	PXN_uc001txu.2_Missense_Mutation_p.R293W|PXN_uc001txv.2_Missense_Mutation_p.R362W|PXN_uc001txx.2_Missense_Mutation_p.R314W|PXN_uc001txy.2_Missense_Mutation_p.R447W|PXN_uc001txz.2_RNA	NM_001080855	NP_001074324	P49023	PAXI_HUMAN	paxillin isoform 1	481	LIM zinc-binding 3.				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			ovary(1)|breast(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGATGGCCCGGGCGCAGCCG	0.617													A	120651713	G	A	120651713	3	1	16	1	0	0	0	0	1	0	0	0	12852	1115	39	1	342	1	PXN	12	120651713	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	65718	120651713	13200182	1027	13349											
PXN	5829	broad.mit.edu	37	chr12	120657167	120657168	+	RNA	INS	-	-	C													ggttggcctggccacacttcINSccctctcggtcatctttgca					rs61741284		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:120657166_120657167T>TC	uc001tya.3	-	0		c.754_755A>GA			PXN_uc001txu.3_5'Flank|PXN_uc001txx.3_Intron|PXN_uc001txt.3_Intron|PXN_uc001txv.3_Intron|PXN_uc001txy.3_Intron|PXN_uc001txz.3_Non-coding_Transcript			P49023	PAXI_HUMAN	Homo sapiens cDNA: FLJ23042 fis, clone LNG02323.						cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGCCACACTTCCCCTCTCGGT	0.634													C	120657168	-	C	120657167	6	5	16	0	1	1	1	0	0	0	0	0	12852	870	30	0		0	PXN	12	120657167	RNA	INS	-	TCGA-BR-4292-01A-01D-1126-08	5454	120657167	13194728	1028	13350											
OASL	8638	broad.mit.edu	37	chr12	121458651	121458651	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatagatgtgagtgtgggAgaagatcccatatttggcta	13	5	0	5			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:121458651A>C	uc001tzj.1	-	6	1264	c.1258T>G	c.(1258-1260)TCC>GCC	p.S420A	OASL_uc001tzk.1_3'UTR	NM_003733	NP_003724	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like isoform a	420	Ubiquitin-like 1.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			skin(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGAGTGTGGGAGAAGATCCCA	0.562													C	121458651	A	C	121458651	3	2	16	1	0	0	0	0	1	0	0	0	10802	304	11	5	290	5	OASL	12	121458651	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	801484	121458651	12393244	1029	13351											
KDM2B	84678	broad.mit.edu	37	chr12	121878950	121878950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcgagggagacgggctgtCgccggatgatgccactcagc	17	11	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:121878950C>T	uc001uat.2	-	20	3475	c.3371G>A	c.(3370-3372)CGA>CAA	p.R1124Q	KDM2B_uc001uaq.2_Missense_Mutation_p.R564Q|KDM2B_uc010szy.1_Missense_Mutation_p.R564Q|KDM2B_uc001uar.2_Missense_Mutation_p.R715Q|KDM2B_uc001uas.2_Missense_Mutation_p.R1055Q|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.R372Q|KDM2B_uc010szx.1_Missense_Mutation_p.R372Q|KDM2B_uc001uap.2_RNA	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	1124					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						GACGGGCTGTCGCCGGATGAT	0.627													T	121878950	C	T	121878950	3	4	16	1	0	0	0	0	1	0	0	0	8125	884	31	1	707	1	KDM2B	12	121878950	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	420299	121878950	11972945	1030	13352											
HIP1R	9026	broad.mit.edu	37	chr12	123344320	123344320	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctgttcttgggtgcaggAcatgatgaaccaggcacgcc	13	11	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:123344320A>G	uc001udj.1	+	24	2467	c.2408A>G	c.(2407-2409)GAC>GGC	p.D803G	HIP1R_uc001udk.1_Missense_Mutation_p.D68G	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	803	I/LWEQ.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		TGGGTGCAGGACATGATGAAC	0.667													G	123344320	A	G	123344320	3	3	16	1	0	0	0	0	1	0	0	0	7115	289	10	3	2502	3	HIP1R	12	123344320	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	1465370	123344320	10507575	1031	13353											
PITPNM2	57605	broad.mit.edu	37	chr12	123481982	123481982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcatgacggtgtcgaacacGttggcgatggtgttagcatc	14	9	0	1	rs142848891		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:123481982G>A	uc001uej.1	-	10	1501	c.1362C>T	c.(1360-1362)AAC>AAT	p.N454N	PITPNM2_uc001uek.1_Silent_p.N454N	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	454					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGTCGAACACGTTGGCGATGG	0.672													A	123481982	G	A	123481982	2	1	16	1	0	0	0	0	0	0	0	1	11951	1136	40	1		1	PITPNM2	12	123481982	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	137662	123481982	10369913	1032	13354											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123687585	123687585	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaggttgaatccctgaaAtctgctgctttggcttcatg	11	9	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:123687585A>C	uc001uel.2	-	6	1018	c.911T>G	c.(910-912)ATT>AGT	p.I304S	MPHOSPH9_uc010tal.1_Intron|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Intron	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	304					M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		AATCCCTGAAATCTGCTGCTT	0.483													C	123687585	A	C	123687585	3	2	16	1	0	0	0	0	1	0	0	0	9728	101	4	5	2244	5	MPHOSPH9	12	123687585	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	205603	123687585	10164310	1033	13355											
NCOR2	9612	broad.mit.edu	37	chr12	124887004	124887004	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttctcctcctccttctccGcctccttttccttctccttc	2	21	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:124887004G>T	uc010tba.1	-	14	1703	c.1586C>A	c.(1585-1587)GCG>GAG	p.A529E	NCOR2_uc010tay.1_Missense_Mutation_p.A529E|NCOR2_uc010taz.1_Missense_Mutation_p.A529E|NCOR2_uc010tbb.1_Missense_Mutation_p.A529E|NCOR2_uc010tbc.1_Missense_Mutation_p.A528E|NCOR2_uc001ugj.1_Missense_Mutation_p.A529E	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	529	Potential.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ctccttctccgcctccttttc	0.333													T	124887004	G	T	124887004	3	4	16	1	0	0	0	0	1	0	0	0	10236	1087	38	5	6118	5	NCOR2	12	124887004	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1199419	124887004	8964891	1034	13356											
TMEM132D	121256	broad.mit.edu	37	chr12	130184470	130184470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacgctgttgtccagacGcagttctctcagggagggtt	14	11	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:130184470G>A	uc009zyl.1	-	2	1181	c.853C>T	c.(853-855)CGT>TGT	p.R285C		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	285	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTGTCCAGACGCAGTTCTCTC	0.527													A	130184470	G	A	130184470	3	1	16	1	0	0	0	0	1	0	0	0	16044	1087	38	1	2478	1	TMEM132D	12	130184470	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	5297466	130184470	3667425	1035	13357											
EP400	57634	broad.mit.edu	37	chr12	132504627	132504627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagtatggccagaagccCgagggtcgcaccgtggcttt	15	11	0	1	rs113843264		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:132504627C>T	uc001ujn.2	+	21	4346	c.4311C>T	c.(4309-4311)CCC>CCT	p.P1437P	EP400_uc001ujl.2_Silent_p.P1436P|EP400_uc001ujm.2_Silent_p.P1437P	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1473					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCCAGAAGCCCGAGGGTCGCA	0.647													T	132504627	C	T	132504627	2	4	16	1	0	0	0	0	0	0	0	1	5149	639	23	1		1	EP400	12	132504627	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2320157	132504627	1347268	1036	13358											
EP400	57634	broad.mit.edu	37	chr12	132538120	132538121	+	Frame_Shift_Ins	INS	-	-	G													gcgcagcccgcaatcacgacINSggggggcagtgcagccgtac							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:132538120_132538121insG	uc001ujn.2	+	42	7741_7742	c.7706_7707insG	c.(7705-7707)ACGfs	p.T2569fs	EP400_uc001ujl.2_Frame_Shift_Ins_p.T2568fs|EP400_uc001ujm.2_Frame_Shift_Ins_p.T2488fs	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2605	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCAATCACGACGGGGGGCAGTG	0.515													G	132538121	-	G	132538120	7	5	16	1	0	1	1	0	0	0	0	0	5149	536	19	0	7869	0	EP400	12	132538120	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	33493	132538120	1313775	1037	13359											
GOLGA3	2802	broad.mit.edu	37	chr12	133350862	133350862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtccgggatcttgatgggCgtggcagggttggaagagct	18	7	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr12:133350862C>T	uc001ukz.1	-	23	4747	c.4188G>A	c.(4186-4188)ACG>ACA	p.T1396T		NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1396	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCTTGATGGGCGTGGCAGGGT	0.607													T	133350862	C	T	133350862	2	4	16	1	0	0	0	0	0	0	0	1	6554	755	27	1		1	GOLGA3	12	133350862	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	812742	133350862	501033	1038	13360											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20235889	20235889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgccgccggagggcaggacGacctcctgcgactcctcatc	12	18	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:20235889G>A	uc001umh.2	+	8	1852	c.1843G>A	c.(1843-1845)GAC>AAC	p.D615N	MPHOSPH8_uc001umg.2_Missense_Mutation_p.D615N	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	615	ANK 1.				cell cycle	cytoplasm|nucleus					0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		AGGGCAGGACGACCTCCTGCG	0.512													A	20235889	G	A	20235889	3	1	16	1	0	0	0	0	1	0	0	0	9727	1058	37	1	1873	1	MPHOSPH8	13	20235889	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08		20235889	94933989	1039	13361											
ZMYM5	9205	broad.mit.edu	37	chr13	20426206	20426206	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctactgactaaaggacaagCtggatgaccaaatgaatccc	8	10	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:20426206C>A	uc010tcn.1	-	3	380	c.115G>T	c.(115-117)GCT>TCT	p.A39S	ZMYM5_uc001umm.1_5'UTR|ZMYM5_uc001umn.2_Missense_Mutation_p.A39S|ZMYM5_uc001umo.2_Missense_Mutation_p.A39S	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	39						nucleus	zinc ion binding				0		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		AAAGGACAAGCTGGATGACCA	0.373													A	20426206	C	A	20426206	3	1	16	1	0	0	0	0	1	0	0	0	17700	797	28	5	2029	5	ZMYM5	13	20426206	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	190317	20426206	94743672	1040	13362											
ZDHHC20	253832	broad.mit.edu	37	chr13	21976959	21976959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacaggctgagcagtgatgCgcccgatcaggtttaatcag	12	10	3	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:21976959C>T	uc001uob.2	-	5	530	c.417G>A	c.(415-417)GCG>GCA	p.A139A	ZDHHC20_uc001uod.2_RNA|ZDHHC20_uc001uoc.2_RNA|ZDHHC20_uc001uoe.2_RNA|ZDHHC20_uc010tcs.1_Silent_p.A76A	NM_153251	NP_694983	Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	139	DHHC-type.					integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		AGCAGTGATGCGCCCGATCAG	0.398													T	21976959	C	T	21976959	2	4	16	1	0	0	0	0	0	0	0	1	17608	755	27	1		1	ZDHHC20	13	21976959	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1550753	21976959	93192919	1041	13363											
ATP12A	479	broad.mit.edu	37	chr13	25255820	25255821	+	Frame_Shift_Ins	INS	-	-	A													ctgcctggaactcaaaaagaINSaaaatcacaaagaggagttt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:25255819_25255820G>GA	uc010aaa.3	+	1	462_463	c.129_130G>GA	c.(127-132)aagaaafs	p.K43fs	ATP12A_uc001upp.3_Frame_Shift_Ins_p.K43fs	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	43					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AACTCAAAAAGAAAAATCACAA	0.525													A	25255821	-	A	25255820	7	5	16	1	0	1	1	0	0	0	0	0	1122	247	9	0	136	0	ATP12A	13	25255820	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	3278861	25255820	89914058	1042	13364											
ATP8A2	51761	broad.mit.edu	37	chr13	26151257	26151257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactccttcaggacgacttcGgctttactgtaaaggggctg	11	10	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:26151257G>A	uc001uqk.2	+	20	1905	c.1763G>A	c.(1762-1764)CGG>CAG	p.R588Q	ATP8A2_uc010tdi.1_Missense_Mutation_p.R548Q|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.R98Q	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	548	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GGACGACTTCGGCTTTACTGT	0.443													A	26151257	G	A	26151257	3	1	16	1	0	0	0	0	1	0	0	0	1193	1116	39	1	1841	1	ATP8A2	13	26151257	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	895437	26151257	89018621	1043	13365											
HSPH1	10808	broad.mit.edu	37	chr13	31729764	31729764	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgaaatcttttgaagttagAcaccgtattgtttgcatgag	9	5	1	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:31729764A>T	uc001utj.2	-	3	591	c.193T>A	c.(193-195)TCT>ACT	p.S65T	HSPH1_uc001utk.2_Missense_Mutation_p.S65T|HSPH1_uc010aaw.2_Missense_Mutation_p.S65T|HSPH1_uc001utl.2_Missense_Mutation_p.S67T|HSPH1_uc010tds.1_Missense_Mutation_p.S67T|HSPH1_uc010tdt.1_RNA|HSPH1_uc010aax.1_Missense_Mutation_p.S67T|HSPH1_uc010aay.1_Missense_Mutation_p.S67T	NM_006644	NP_006635	Q92598	HS105_HUMAN	heat shock 105kD	65					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding				0		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTGAAGTTAGACACCGTATTG	0.333													T	31729764	A	T	31729764	3	4	16	1	0	0	0	0	1	0	0	0	7431	275	10	5	2447	5	HSPH1	13	31729764	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	5578507	31729764	83440114	1044	13366											
N4BP2L2	10443	broad.mit.edu	37	chr13	33092117	33092117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acatctgagcaatcttctttCgagacacaccatgtttattc	5	11	3	2	rs117678407	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:33092117C>T	uc001uuk.3	-	6	1752	c.1574G>A	c.(1573-1575)CGA>CAA	p.R525Q	N4BP2L2_uc001uuj.2_Missense_Mutation_p.R41Q|N4BP2L2_uc010abe.1_Missense_Mutation_p.R96Q|N4BP2L2_uc010tdz.1_Missense_Mutation_p.R81Q	NM_014887	NP_055702	Q92802	N42L2_HUMAN	phosphonoformate immuno-associated protein 5	525											0		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		AATCTTCTTTCGAGACACACC	0.343													T	33092117	C	T	33092117	3	4	16	1	0	0	0	0	1	0	0	0	10112	884	31	1	2042	1	N4BP2L2	13	33092117	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1362353	33092117	82077761	1045	13367											
PDS5B	23047	broad.mit.edu	37	chr13	33347331	33347331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgttttactctagccgtGtaggacgctccaaacaagca	9	10	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:33347331G>A	uc010abf.2	+	34	4335	c.4177G>A	c.(4177-4179)GTA>ATA	p.V1393I	PDS5B_uc010abg.2_Intron	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1393					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CTCTAGCCGTGTAGGACGCTC	0.393													A	33347331	G	A	33347331	3	1	16	1	0	0	0	0	1	0	0	0	11692	1377	48	4	4307	4	PDS5B	13	33347331	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	255214	33347331	81822547	1046	13368											
TRPC4	7223	broad.mit.edu	37	chr13	38266432	38266432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaaactcatcgtaccagCgagatgccagcagctgttga	11	11	1	2	rs147415849		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:38266432C>T	uc001uws.2	-	4	1173	c.938G>A	c.(937-939)CGC>CAC	p.R313H	TRPC4_uc010abv.2_Intron|TRPC4_uc001uwt.2_Missense_Mutation_p.R313H|TRPC4_uc010tey.1_Missense_Mutation_p.R313H|TRPC4_uc010abw.2_Missense_Mutation_p.R140H|TRPC4_uc010abx.2_Missense_Mutation_p.R313H|TRPC4_uc010aby.2_Missense_Mutation_p.R313H	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	313	Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATCGTACCAGCGAGATGCCAG	0.458													T	38266432	C	T	38266432	3	4	16	1	0	0	0	0	1	0	0	0	16577	768	27	1	2042	1	TRPC4	13	38266432	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	4919101	38266432	76903446	1047	13369											
FREM2	341640	broad.mit.edu	37	chr13	39262147	39262147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgcgtgggcatcctgtcCggcttgggcgcgctgcctcg	16	15	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:39262147C>T	uc001uwv.2	+	1	975	c.666C>T	c.(664-666)TCC>TCT	p.S222S		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	222	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCATCCTGTCCGGCTTGGGCG	0.672													T	39262147	C	T	39262147	2	4	16	1	0	0	0	0	0	0	0	1	6045	639	23	1		1	FREM2	13	39262147	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	995715	39262147	75907731	1048	13370											
FREM2	341640	broad.mit.edu	37	chr13	39422774	39422774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttggcgagcccagcaaaGccacagtgtccataaatgac	9	14	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:39422774G>A	uc001uwv.2	+	8	6655	c.6346G>A	c.(6346-6348)GCC>ACC	p.A2116T	FREM2_uc001uww.2_Missense_Mutation_p.A202T	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2116	Extracellular (Potential).			A -> T (in Ref. 3; BAC87040).	cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCCCAGCAAAGCCACAGTGTC	0.408													A	39422774	G	A	39422774	3	1	16	1	0	0	0	0	1	0	0	0	6045	971	34	2	6376	2	FREM2	13	39422774	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	160627	39422774	75747104	1049	13371											
KIAA0564	23078	broad.mit.edu	37	chr13	42277527	42277527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtccagtagcccatgaacGtttgttctggcagagtcaac	10	10	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:42277527G>A	uc001uyj.2	-	27	3207	c.3137C>T	c.(3136-3138)ACG>ATG	p.T1046M		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1046						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		GCCCATGAACGTTTGTTCTGG	0.373													A	42277527	G	A	42277527	3	1	16	1	0	0	0	0	1	0	0	0	8185	1145	40	1	2656	1	KIAA0564	13	42277527	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2854753	42277527	72892351	1050	13372											
DGKH	160851	broad.mit.edu	37	chr13	42742861	42742861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacaggaaatgaccttgcccGagttcttggctggggaggtt	14	8	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:42742861G>A	uc001uyl.1	+	11	1295	c.1274G>A	c.(1273-1275)CGA>CAA	p.R425Q	DGKH_uc010tfh.1_Missense_Mutation_p.R425Q|DGKH_uc001uym.1_Missense_Mutation_p.R425Q|DGKH_uc010tfi.1_Missense_Mutation_p.R180Q|DGKH_uc010tfj.1_Missense_Mutation_p.R280Q|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.R280Q|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	425	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GACCTTGCCCGAGTTCTTGGC	0.483													A	42742861	G	A	42742861	3	1	16	1	0	0	0	0	1	0	0	0	4470	1058	37	1	1316	1	DGKH	13	42742861	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	465334	42742861	72427017	1051	13373											
ZC3H13	23091	broad.mit.edu	37	chr13	46543351	46543351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcacagttgtagcagtggCagtagccacaggcggtggag	17	8	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:46543351C>T	uc010tfw.1	-	13	3334	c.3328G>A	c.(3328-3330)GCC>ACC	p.A1110T	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.A1110T|ZC3H13_uc001vat.1_Missense_Mutation_p.A1110T	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1110							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		gtagcagtggcagtagccaca	0.249													T	46543351	C	T	46543351	3	4	16	1	0	0	0	0	1	0	0	0	17562	710	25	2	1382	2	ZC3H13	13	46543351	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3800490	46543351	68626527	1052	13374											
ZC3H13	23091	broad.mit.edu	37	chr13	46559533	46559533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcattccttatttccgtaCgagaactttcttctctcaaa	3	12	4	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:46559533C>T	uc010tfw.1	-	9	1625	c.1619G>A	c.(1618-1620)CGT>CAT	p.R540H	ZC3H13_uc001vas.1_Missense_Mutation_p.R540H|ZC3H13_uc001vat.1_Missense_Mutation_p.R540H	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	540	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TATTTCCGTACGAGAACTTTC	0.458													T	46559533	C	T	46559533	3	4	16	1	0	0	0	0	1	0	0	0	17562	536	19	1	3107	1	ZC3H13	13	46559533	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	16182	46559533	68610345	1053	13375											
ZC3H13	23091	broad.mit.edu	37	chr13	46616316	46616316	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccctaacaggtgaggatgActcctctgtatttcgtttct	8	10	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:46616316A>G	uc010tfw.1	-	3	328	c.322T>C	c.(322-324)TCA>CCA	p.S108P	ZC3H13_uc001vas.1_Missense_Mutation_p.S108P|ZC3H13_uc001vat.1_Missense_Mutation_p.S108P	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	108							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GGTGAGGATGACTCCTCTGTA	0.398													G	46616316	A	G	46616316	3	3	16	1	0	0	0	0	1	0	0	0	17562	275	10	3	4428	3	ZC3H13	13	46616316	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	56783	46616316	68553562	1054	13376											
RCBTB1	55213	broad.mit.edu	37	chr13	50125518	50125518	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggttatttttattgccagtTcccagctgcccatatgtgtt	8	9	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:50125518T>C	uc001vde.1	-	8	1059	c.798A>G	c.(796-798)GGA>GGG	p.G266G		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and	266	RCC1 5.				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(1)	1		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		TATTGCCAGTTCCCAGCTGCC	0.493													C	50125518	T	C	50125518	2	2	16	1	0	0	0	0	0	0	0	1	13171	1770	62	3		3	RCBTB1	13	50125518	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	3509202	50125518	65044360	1055	13377											
TDRD3	81550	broad.mit.edu	37	chr13	61102603	61102603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatctgagacatcctcctcGaaatgataccaggcagccaa	7	13	2	2	rs140988326	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:61102603G>A	uc001via.2	+	11	1753	c.965G>A	c.(964-966)CGA>CAA	p.R322Q	TDRD3_uc010aef.2_Missense_Mutation_p.R147Q|TDRD3_uc001vhz.3_Missense_Mutation_p.R322Q|TDRD3_uc010aeg.2_Missense_Mutation_p.R415Q|TDRD3_uc001vib.3_Missense_Mutation_p.R321Q	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	322					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CATCCTCCTCGAAATGATACC	0.398													A	61102603	G	A	61102603	3	1	16	1	0	0	0	0	1	0	0	0	15729	1058	37	1	1286	1	TDRD3	13	61102603	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	10977085	61102603	54067275	1056	13378											
C13orf34	79866	broad.mit.edu	37	chr13	73320743	73320743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttatatagatggctgctcgCcaattaaaaattggtctcct	7	9	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:73320743C>T	uc001viv.1	+	10	1095	c.976C>T	c.(976-978)CCA>TCA	p.P326S	C13orf34_uc010thq.1_Missense_Mutation_p.P101S|C13orf34_uc010aen.1_Missense_Mutation_p.P401S|C13orf34_uc010thr.1_Missense_Mutation_p.P256S|C13orf34_uc001viw.1_Missense_Mutation_p.P275S	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	aurora borealis	326					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding				0		Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.000227)		TGGCTGCTCGCCAATTAAAAA	0.398													T	73320743	C	T	73320743	3	4	16	1	0	0	0	0	1	0	0	0	1728	739	26	2	1010	2	C13orf34	13	73320743	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	12218140	73320743	41849135	1057	13379											
LMO7	4008	broad.mit.edu	37	chr13	76415965	76415966	+	Frame_Shift_Ins	INS	-	-	GA													gcaggatcagcttgttattgINSagagagagaggaaatgggag							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:76415964_76415965T>TGA	uc021rkq.1	+	23	4211_4212	c.3876_3877T>TGA	c.(3874-3879)attgagfs	p.I1292fs	LMO7_uc010thv.2_Frame_Shift_Ins_p.I1010fs|LMO7_uc001vjt.1_Frame_Shift_Ins_p.I958fs|LMO7_uc001vjv.3_Frame_Shift_Ins_p.I1059fs|LMO7_uc010thw.2_Frame_Shift_Ins_p.I936fs|LMO7_uc001vjw.1_Frame_Shift_Ins_p.I965fs	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1344						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGCTTGTTATTGAGAGAGAGAG	0.535													GA	76415966	-	GA	76415965	7	5	16	1	0	1	1	0	0	0	0	0	8855	1291	45	0	4131	0	LMO7	13	76415965	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	3095222	76415965	38753913	1058	13380											
EDNRB	1910	broad.mit.edu	37	chr13	78475267	78475267	+	Frame_Shift_Del	DEL	A	A	-													ttcacaggtcattagtgtatAaaaaaatgcagtgatggcca							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:78475267delA	uc001vko.2	-	4	1135	c.877delT	c.(877-879)TATfs	p.Y293fs	EDNRB_uc001vkq.1_Frame_Shift_Del_p.Y293fs|uc001vkn.1_Intron|EDNRB_uc010aez.1_Frame_Shift_Del_p.Y293fs|EDNRB_uc001vkp.1_Frame_Shift_Del_p.Y376fs	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	293	Helical; Name=5; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	ATTAGTGTATAAAAAAATGCA	0.343													-	78475267	A	-	78475267	7	5	16	1	0	1	0	1	0	0	0	0	4920	362	13	0	588	0	EDNRB	13	78475267	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	2059302	78475267	36694611	1059	13381											
GPR180	160897	broad.mit.edu	37	chr13	95279412	95279412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatctggacacaaaagtcGccctcatttctgatacttga	6	11	4	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:95279412G>A	uc001vly.2	+	9	1388	c.1310G>A	c.(1309-1311)CGC>CAC	p.R437H	GPR180_uc001vlz.2_Missense_Mutation_p.R336H|GPR180_uc010afi.2_Missense_Mutation_p.R198H	NM_180989	NP_851320	Q86V85	GP180_HUMAN	G protein-coupled receptor 180 precursor	437						integral to membrane				breast(1)	1	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					CACAAAAGTCGCCCTCATTTC	0.358													A	95279412	G	A	95279412	3	1	16	1	0	0	0	0	1	0	0	0	6676	1087	38	1	1344	1	GPR180	13	95279412	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	16804145	95279412	19890466	1060	13382											
HS6ST3	266722	broad.mit.edu	37	chr13	96743551	96743551	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttcaacatcaaagggcgCgacgtgatcgtgttcctcca	10	11	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:96743551C>T	uc001vmw.2	+	1	459	c.435C>T	c.(433-435)CGC>CGT	p.R145R		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	145	Lumenal (Potential).					integral to membrane	sulfotransferase activity	p.R145C(1)		ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TCAAAGGGCGCGACGTGATCG	0.612													T	96743551	C	T	96743551	2	4	16	1	0	0	0	0	0	0	0	1	7372	755	27	1		1	HS6ST3	13	96743551	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1464139	96743551	18426327	1061	13383											
FARP1	10160	broad.mit.edu	37	chr13	99092253	99092253	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtggggggtgccccactgCctgaccctccggggccagcg	17	15	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:99092253C>A	uc001vnj.2	+	22	2808	c.2472C>A	c.(2470-2472)TGC>TGA	p.C824*	FARP1_uc001vnh.2_Nonsense_Mutation_p.C855*	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	824	PH 1.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGCCCCACTGCCTGACCCTCC	0.612													A	99092253	C	A	99092253	4	1	16	1	0	0	0	0	0	1	0	0	5676	747	26	5	2777	5	FARP1	13	99092253	Nonsense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2348702	99092253	16077625	1062	13384											
DOCK9	23348	broad.mit.edu	37	chr13	99502312	99502312	+	Frame_Shift_Del	DEL	A	A	-													gctacttactcagatattgtAaaaaaatccataagttcaga							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:99502312delA	uc001vnt.2	-	36	4060	c.4005delT	c.(4003-4005)TTTfs	p.F1335fs	DOCK9_uc001vnw.2_Frame_Shift_Del_p.F1334fs|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Frame_Shift_Del_p.F1335fs|DOCK9_uc001vnr.2_5'Flank|DOCK9_uc010tin.1_5'Flank|DOCK9_uc001vns.2_5'Flank|DOCK9_uc010tio.1_Frame_Shift_Del_p.F4fs|DOCK9_uc010tip.1_Frame_Shift_Del_p.F22fs|DOCK9_uc001vnu.1_5'Flank|DOCK9_uc010tiq.1_Frame_Shift_Del_p.F313fs	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1335					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGATATTGTAAAAAAATCCA	0.318													-	99502312	A	-	99502312	7	5	16	1	0	1	0	1	0	0	0	0	4694	359	13	0	2284	0	DOCK9	13	99502312	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	410059	99502312	15667566	1063	13385											
NALCN	259232	broad.mit.edu	37	chr13	101710303	101710303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacctacctgagggcagacGccactgcccaaatttcctct	9	15	1	2	rs143587652		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:101710303G>A	uc001vox.1	-	43	5200	c.5011C>T	c.(5011-5013)CGT>TGT	p.R1671C		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1671	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAGGGCAGACGCCACTGCCCA	0.542													A	101710303	G	A	101710303	3	1	16	1	0	0	0	0	1	0	0	0	10148	1087	38	1	213	1	NALCN	13	101710303	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2207991	101710303	13459575	1064	13386											
MYO16	23026	broad.mit.edu	37	chr13	109459100	109459100	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatggtggagacctcaacaTagtagatgatcagtactgga	11	7	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:109459100T>C	uc001vqt.1	+	7	875	c.749T>C	c.(748-750)ATA>ACA	p.I250T	MYO16_uc010agk.1_Missense_Mutation_p.I272T|MYO16_uc001vqu.1_Missense_Mutation_p.I50T	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	250	ANK 6.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GACCTCAACATAGTAGATGAT	0.418													C	109459100	T	C	109459100	3	2	16	1	0	0	0	0	1	0	0	0	10064	1406	49	3	771	3	MYO16	13	109459100	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	7748797	109459100	5710778	1065	13387											
SOX1	6656	broad.mit.edu	37	chr13	112722004	112722004	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgatggagaccgacctgcActcgcccggcggcgcccagg	15	15	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:112722004A>G	uc001vsb.1	+	1	92	c.32A>G	c.(31-33)CAC>CGC	p.H11R		NM_005986	NP_005977	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	11					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		ACCGACCTGCACTCGCCCGGC	0.572													G	112722004	A	G	112722004	3	3	16	1	0	0	0	0	1	0	0	0	14940	159	6	3	34	3	SOX1	13	112722004	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	3262904	112722004	2447874	1066	13388											
TMCO3	55002	broad.mit.edu	37	chr13	114174950	114174950	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgacattgactacagcacCgtgctcctcggcatgctggt	12	13	0	1	rs150929637		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr13:114174950C>T	uc001vtu.3	+	8	1606	c.1245C>T	c.(1243-1245)ACC>ACT	p.T415T	TMCO3_uc001vtt.3_Silent_p.T415T	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	415						integral to membrane	solute:hydrogen antiporter activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			ACTACAGCACCGTGCTCCTCG	0.537													T	114174950	C	T	114174950	2	4	16	1	0	0	0	0	0	0	0	1	15994	639	23	1		1	TMCO3	13	114174950	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1452946	114174950	994928	1067	13389											
TEP1	7011	broad.mit.edu	37	chr14	20854765	20854765	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagtggatgaaatgaaaAgccggatgctgcgccatctg	14	7	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:20854765A>C	uc001vxe.2	-	19	2742	c.2702T>G	c.(2701-2703)CTT>CGT	p.L901R	TEP1_uc010ahk.2_Missense_Mutation_p.L251R|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.L793R	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	901					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGAAATGAAAAGCCGGATGCT	0.592													C	20854765	A	C	20854765	3	2	16	1	0	0	0	0	1	0	0	0	15756	72	3	5	5329	5	TEP1	14	20854765	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08		20854765	86494775	1068	13390											
OSGEP	55644	broad.mit.edu	37	chr14	20916315	20916315	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acactcgcctgtggccagcaTccgatgggctacatcctaca	9	15	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:20916315T>C	uc001vxf.2	-	7	1008	c.652A>G	c.(652-654)ATG>GTG	p.M218V		NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	218					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding				0	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		GTGGCCAGCATCCGATGGGCT	0.433													C	20916315	T	C	20916315	3	2	16	1	0	0	0	0	1	0	0	0	11287	1435	50	3	375	3	OSGEP	14	20916315	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	61550	20916315	86433225	1069	13391											
APEX1	328	broad.mit.edu	37	chr14	20925577	20925578	+	Frame_Shift_Del	DEL	CT	CT	-													gattactttttgttgtcccaCtctctgttacctgcattgtg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:20925576_20925577ACT>A	uc001vxg.3	+	4	1198_1199	c.866_867ACT>A	c.(865-867)cacfs	p.H289fs	OSGEP_uc001vxf.3_5'Flank|APEX1_uc001vxh.3_Frame_Shift_Del_p.H289fs|APEX1_uc001vxi.3_Frame_Shift_Del_p.H289fs|APEX1_uc021rnr.1_Frame_Shift_Del_p.H289fs	NM_001641	NP_001632	P27695	APEX1_HUMAN	Homo sapiens APEX nuclease (multifunctional DNA repair enzyme) 1 (APEX1), transcript variant 1, mRNA.	289	Mitochondrial targeting sequence (MTS).				DNA demethylation|DNA recombination|base-excision repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|RNA binding|chromatin DNA binding|damaged DNA binding|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	TTGTTGTCCCACTCTCTGTTAC	0.49								Other BER factors					-	20925578	CT	-	20925577	7	5	16	1	0	1	0	1	0	0	0	0	769	564	20	0	881	0	APEX1	14	20925577	Frame_Shift_Del	DEL	CT	TCGA-BR-4292-01A-01D-1126-08	9262	20925577	86423963	1070	13392											
EDDM3B	64184	broad.mit.edu	37	chr14	21238745	21238745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagatggtagaacctatcGgcaactagaaagtctatgca	9	7	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:21238745G>A	uc001vyd.2	+	2	534	c.436G>A	c.(436-438)GGC>AGC	p.G146S		NM_022360	NP_071755	P56851	EP3B_HUMAN	human epididymis-specific 3 beta precursor	146					spermatid development	extracellular region				ovary(1)	1						AGAACCTATCGGCAACTAGAA	0.453													A	21238745	G	A	21238745	3	1	16	1	0	0	0	0	1	0	0	0	4910	1116	39	1	438	1	EDDM3B	14	21238745	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	313168	21238745	86110795	1071	13393											
RAB2B	84932	broad.mit.edu	37	chr14	21936840	21936840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctcaccttgtaatgtcGtacaccagcagtgctccagc	9	14	1	0	rs150391208	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:21936840G>A	uc010tlt.1	-	4	359	c.258C>T	c.(256-258)TAC>TAT	p.Y86Y	RAB2B_uc010tls.1_Silent_p.Y40Y|RAB2B_uc001wax.2_Silent_p.Y21Y|RAB2B_uc010ain.2_Intron	NM_032846	NP_116235	Q8WUD1	RAB2B_HUMAN	RAB2B protein isoform 1	86					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding			ovary(1)	1	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		TTGTAATGTCGTACACCAGCA	0.458													A	21936840	G	A	21936840	2	1	16	1	0	0	0	0	0	0	0	1	12918	1140	40	1		1	RAB2B	14	21936840	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	698095	21936840	85412700	1072	13394											
HOMEZ	57594	broad.mit.edu	37	chr14	23745054	23745054	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctccaagggttgtatatcCggtgggggtggagggatcgg	18	7	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:23745054C>T	uc001wja.2	-	2	1531	c.1383G>A	c.(1381-1383)CCG>CCA	p.P461P	HOMEZ_uc001wjb.2_Silent_p.P463P	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	homeodomain leucine zipper protein	461	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GTTGTATATCCGGTGGGGGTG	0.557													T	23745054	C	T	23745054	2	4	16	1	0	0	0	0	0	0	0	1	7281	639	23	1		1	HOMEZ	14	23745054	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1808214	23745054	83604486	1073	13395											
MYH7	4625	broad.mit.edu	37	chr14	23887443	23887443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctcgagctcctcagtcCgctgaatggcgtccgtctca	9	17	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:23887443C>T	uc001wjx.2	-	30	4251	c.4145G>A	c.(4144-4146)CGG>CAG	p.R1382Q	MIR208B_hsa-mir-208b|MI0005570_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1382	Potential.		R -> W (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCCTCAGTCCGCTGAATGGC	0.637													T	23887443	C	T	23887443	3	4	16	1	0	0	0	0	1	0	0	0	10039	652	23	1	1706	1	MYH7	14	23887443	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	142389	23887443	83462097	1074	13396											
LRRC16B	90668	broad.mit.edu	37	chr14	24525864	24525864	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagccagcagctcctctgctTcccctctggcctcaccaaac	7	19	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:24525864T>C	uc001wlj.2	+	12	1056	c.899T>C	c.(898-900)TTC>TCC	p.F300S		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	300										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		CTCCTCTGCTTCCCCTCTGGC	0.622													C	24525864	T	C	24525864	3	2	16	1	0	0	0	0	1	0	0	0	8972	1783	62	3	945	3	LRRC16B	14	24525864	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	638421	24525864	82823676	1075	13397											
CPNE6	9362	broad.mit.edu	37	chr14	24542776	24542777	+	Frame_Shift_Ins	INS	-	-	T													gggtgctggcccttgagtatINSttttttgaggagaagcagcc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:24542775_24542776A>AT	uc010tnv.2	+	3	547_548	c.401_402A>AT	c.(400-402)tatfs	p.Y134fs	CPNE6_uc001wlm.3_5'UTR|CPNE6_uc001wll.3_Frame_Shift_Ins_p.Y79fs|CPNE6_uc001wln.3_5'Flank	NM_006032	NP_006023	O95741	CPNE6_HUMAN	Homo sapiens copine VI (neuronal) (CPNE6), mRNA.	79					lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GCCCTTGAGTATTTTTTTGAGG	0.594													T	24542777	-	T	24542776	7	5	16	1	0	1	1	0	0	0	0	0	3816	1500	52	0	243	0	CPNE6	14	24542776	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	16912	24542776	82806764	1076	13398											
TGM1	7051	broad.mit.edu	37	chr14	24729876	24729876	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccactgggatgatcacgtgCgtgcccttgcccacctcggg	12	16	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:24729876C>T	uc001wod.2	-	4	661	c.537G>A	c.(535-537)ACG>ACA	p.T179T	TGM1_uc010tog.1_Intron	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	179					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TGATCACGTGCGTGCCCTTGC	0.612													T	24729876	C	T	24729876	2	4	16	1	0	0	0	0	0	0	0	1	15826	755	27	1		1	TGM1	14	24729876	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	187100	24729876	82619664	1077	13399											
LTB4R2	56413	broad.mit.edu	37	chr14	24780931	24780931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggatggagaaggacggtcCggaatgggacctttgacagc	17	7	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:24780931C>T	uc001woq.1	+	1	2771	c.1154C>T	c.(1153-1155)CCG>CTG	p.P385L	CIDEB_uc001woo.2_5'Flank|CIDEB_uc001wop.2_5'Flank|LTB4R2_uc001wor.2_Missense_Mutation_p.P354L|LTB4R_uc001wos.2_5'UTR|LTB4R_uc010alp.2_5'Flank|LTB4R_uc001wou.2_5'Flank	NM_019839	NP_062813	Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	385	Cytoplasmic (Potential).				chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane					0				GBM - Glioblastoma multiforme(265;0.018)		AAGGACGGTCCGGAATGGGAC	0.627													T	24780931	C	T	24780931	3	4	16	1	0	0	0	0	1	0	0	0	9072	652	23	1	1063	1	LTB4R2	14	24780931	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	51055	24780931	82568609	1078	13400											
NYNRIN	57523	broad.mit.edu	37	chr14	24880323	24880323	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgccgaggaattgccaTggcagtgcagtttttctgga	12	10	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:24880323T>C	uc001wpf.3	+	5	2774	c.2456T>C	c.(2455-2457)ATG>ACG	p.M819T		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	819					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						GGAATTGCCATGGCAGTGCAG	0.597											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	24880323	T	C	24880323	3	2	16	1	0	0	0	0	1	0	0	0	10796	1464	51	3	2470	3	NYNRIN	14	24880323	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	99392	24880323	82469217	1079	13401											
NYNRIN	57523	broad.mit.edu	37	chr14	24884436	24884436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaactcccagctgcccttcCgcctggaggtgaccgtgagc	11	17	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:24884436C>T	uc001wpf.3	+	9	3799	c.3481C>T	c.(3481-3483)CGC>TGC	p.R1161C		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	1161					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						GCTGCCCTTCCGCCTGGAGGT	0.647													T	24884436	C	T	24884436	3	4	16	1	0	0	0	0	1	0	0	0	10796	652	23	1	3511	1	NYNRIN	14	24884436	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	4113	24884436	82465104	1080	13402											
G2E3	55632	broad.mit.edu	37	chr14	31071214	31071214	+	Frame_Shift_Del	DEL	A	A	-													taaatctgtaggagagttccAaaaagccaaaaaacatgtat							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:31071214delA	uc001wqk.2	+	10	1041	c.887delA	c.(886-888)CAAfs	p.Q296fs	G2E3_uc010tpe.1_Frame_Shift_Del_p.Q211fs|G2E3_uc010tpf.1_Frame_Shift_Del_p.Q250fs	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	296					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						GGAGAGTTCCAAAAAGCCAAA	0.299													-	31071214	A	-	31071214	7	5	16	1	0	1	0	1	0	0	0	0	6140	130	5	0	921	0	G2E3	14	31071214	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	6186778	31071214	76278326	1081	13403											
STRN3	29966	broad.mit.edu	37	chr14	31424869	31424869	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcaccttggttcagttcCgtgccatattttaatttgtg	8	8	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:31424869C>T	uc001wqu.2	-	3	633	c.417G>A	c.(415-417)ACG>ACA	p.T139T	STRN3_uc001wqv.2_Silent_p.T139T|STRN3_uc010tpj.1_RNA	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	nuclear autoantigen isoform 1	139					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		GGTTCAGTTCCGTGCCATATT	0.299													T	31424869	C	T	31424869	2	4	16	1	0	0	0	0	0	0	0	1	15329	639	23	1		1	STRN3	14	31424869	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	353655	31424869	75924671	1082	13404											
HECTD1	25831	broad.mit.edu	37	chr14	31575978	31575978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatttggcgcctcttgataGcaaggtctttaatttctttt	7	7	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:31575978G>A	uc001wrc.1	-	38	7589	c.7100C>T	c.(7099-7101)GCT>GTT	p.A2367V	HECTD1_uc001wra.1_Missense_Mutation_p.A493V|HECTD1_uc001wrb.1_Missense_Mutation_p.A493V	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	2367	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CCTCTTGATAGCAAGGTCTTT	0.388													A	31575978	G	A	31575978	3	1	16	1	0	0	0	0	1	0	0	0	7039	971	34	2	756	2	HECTD1	14	31575978	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	151109	31575978	75773562	1083	13405											
AKAP6	9472	broad.mit.edu	37	chr14	33292305	33292305	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctccagctctacccttacCttgactgaagaagagctgtg	8	13	2	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:33292305C>A	uc001wrq.2	+	13	5456	c.5286C>A	c.(5284-5286)ACC>ACA	p.T1762T		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1762					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTACCCTTACCTTGACTGAAG	0.453													A	33292305	C	A	33292305	2	1	16	1	0	0	0	0	0	0	0	1	455	668	24	5		5	AKAP6	14	33292305	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1716327	33292305	74057235	1084	13406											
EAPP	55837	broad.mit.edu	37	chr14	34985626	34985626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgatagatttcttccaCatctgtctctgccttctcgg	9	11	4	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:34985626C>T	uc001wsd.1	-	6	857	c.748G>A	c.(748-750)GTG>ATG	p.V250M		NM_018453	NP_060923	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	250					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				ovary(1)	1	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		ATTTCTTCCACATCTGTCTCT	0.443													T	34985626	C	T	34985626	3	4	16	1	0	0	0	0	1	0	0	0	4877	478	17	4	113	4	EAPP	14	34985626	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1693321	34985626	72363914	1085	13407											
NKX2-1	7080	broad.mit.edu	37	chr14	36987203	36987203	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgctcatgttcatgccgctCgccgggcccatgaagcggga	13	15	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:36987203C>T	uc001wtt.2	-	2	737	c.396G>A	c.(394-396)GCG>GCA	p.A132A	SFTA3_uc001wts.2_Intron|NKX2-1_uc001wtu.2_Silent_p.A162A|NKX2-1_uc001wtv.2_Silent_p.A132A|uc001wtw.1_5'Flank	NM_003317	NP_003308	P43699	NKX21_HUMAN	thyroid transcription factor 1 isoform 2	132					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			skin(1)	1	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		TCATGCCGCTCGCCGGGCCCA	0.716			A		NSCLC								T	36987203	C	T	36987203	2	4	16	1	0	0	0	0	0	0	0	1	10449	871	31	1		1	NKX2-1	14	36987203	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2001577	36987203	70362337	1086	13408											
FSCB	84075	broad.mit.edu	37	chr14	44974717	44974717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcctcagatagtggagaccGagcttcggcaggagtttcat	12	10	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:44974717G>A	uc001wvn.2	-	1	1783	c.1474C>T	c.(1474-1476)CGG>TGG	p.R492W		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	492	Ala-rich.					cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		AGTGGAGACCGAGCTTCGGCA	0.507													A	44974717	G	A	44974717	3	1	16	1	0	0	0	0	1	0	0	0	6066	1057	37	1	1007	1	FSCB	14	44974717	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	7987514	44974717	62374823	1087	13409											
FAM179B	23116	broad.mit.edu	37	chr14	45478141	45478141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctctcttaggtcccttcGtaatagtgcagctaagaaaa	8	9	1	1	rs145931350		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:45478141G>A	uc001wvv.2	+	6	3139	c.2930G>A	c.(2929-2931)CGT>CAT	p.R977H	FAM179B_uc001wvw.2_Missense_Mutation_p.R977H|FAM179B_uc010anc.2_Intron	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	977	Ser-rich.						binding			skin(2)|upper_aerodigestive_tract(1)	3						AGGTCCCTTCGTAATAGTGCA	0.358													A	45478141	G	A	45478141	3	1	16	1	0	0	0	0	1	0	0	0	5506	1145	40	1	2952	1	FAM179B	14	45478141	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	503424	45478141	61871399	1088	13410											
FANCM	57697	broad.mit.edu	37	chr14	45642288	45642289	+	Frame_Shift_Ins	INS	-	-	CT													aaccactggaattcatcaacINStctctctctctgaatggaga					rs117392855	by1000genomes	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:45642287_45642288A>ACT	uc001wwd.4	+	12	2289_2290	c.2190_2191A>ACT	c.(2188-2193)caactcfs	p.Q730fs	FANCM_uc010anf.3_Frame_Shift_Ins_p.Q704fs|FANCM_uc001wwe.4_Frame_Shift_Ins_p.Q266fs|FANCM_uc010ang.3_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	730					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAATTCATCAACTCTCTCTCTC	0.347								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				CT	45642289	-	CT	45642288	7	5	16	1	0	1	1	0	0	0	0	0	5671	565	20	0	2241	0	FANCM	14	45642288	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	164147	45642288	61707252	1089	13411											
SOS2	6655	broad.mit.edu	37	chr14	50605445	50605446	+	Frame_Shift_Ins	INS	-	-	T													gattaaatctttccctttctINStttttaaaaaatcattattc					rs139974077		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:50605444_50605445C>CT	uc001wxs.4	-	17	2941_2942	c.2843_2844G>AG	c.(2842-2844)aagfs	p.K948fs	SOS2_uc010tql.2_Frame_Shift_Ins_p.K915fs|SOS2_uc010tqm.1_Non-coding_Transcript	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	948	Ras-GEF.			K -> R (in Ref. 1; AAA35914).	apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding	p.K948N(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CTTTCCCTTTCTTTTTTAAAAA	0.272													T	50605446	-	T	50605445	7	5	16	1	0	1	1	0	0	0	0	0	14937	1609	56	0	1179	0	SOS2	14	50605445	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	4963157	50605445	56744095	1090	13412											
TMX1	81542	broad.mit.edu	37	chr14	51710663	51710663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcttgaggttaatattgCgaaagtagatgtcacagagc	11	5	2	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:51710663C>T	uc001wza.3	+	2	367	c.242C>T	c.(241-243)GCG>GTG	p.A81V	TMX1_uc010tqr.1_Missense_Mutation_p.A81V|TMX1_uc010aoa.2_5'UTR	NM_030755	NP_110382	Q9H3N1	TMX1_HUMAN	thioredoxin domain containing 1 precursor	81	Thioredoxin.|Extracellular (Potential).				anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity				0						GTTAATATTGCGAAAGTAGAT	0.398													T	51710663	C	T	51710663	3	4	16	1	0	0	0	0	1	0	0	0	16263	768	27	1	248	1	TMX1	14	51710663	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1105218	51710663	55638877	1091	13413											
NID2	22795	broad.mit.edu	37	chr14	52481919	52481919	+	Frame_Shift_Del	DEL	G	G	-													gggcacgtactggtcatcccGgggggtgccaccgtagtgct							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:52481918_52481918CG>C	uc001wzo.3	-	14	3338	c.3104_3104CG>G	c.(3103-3105)cggfs	p.R1035fs	NID2_uc010tqs.2_Frame_Shift_Del_p.R987fs|NID2_uc010tqt.1_Frame_Shift_Del_p.R1035fs|NID2_uc001wzp.3_Frame_Shift_Del_p.R1035fs	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	1035	Thyroglobulin type-1 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGGTCATCCCGGGGGGTGCC	0.627													-	52481919	G	-	52481919	7	5	16	1	0	1	0	1	0	0	0	0	10415	1115	39	0	1056	0	NID2	14	52481919	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	771256	52481919	54867621	1092	13414											
KIAA0831	22863	broad.mit.edu	37	chr14	55836420	55836420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacctgcactgctgctcgCgatgggtggggacgcctggg	16	14	0	0	rs144919020		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:55836420C>T	uc001xbx.1	-	10	1432	c.1396G>A	c.(1396-1398)GCG>ACG	p.A466T	FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Missense_Mutation_p.A353T	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Barkor	466					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding				0						CTGCTGCTCGCGATGGGTGGG	0.567													T	55836420	C	T	55836420	3	4	16	1	0	0	0	0	1	0	0	0	8195	768	27	1	86	1	KIAA0831	14	55836420	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3354501	55836420	51513120	1093	13415											
SYT16	83851	broad.mit.edu	37	chr14	62547711	62547711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagataaggaccgaagtggtGtcaactcctggcaagttcat	11	9	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:62547711G>A	uc001xfu.1	+	4	1350	c.1153G>A	c.(1153-1155)GTC>ATC	p.V385I	SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	385	C2 1.									central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CCGAAGTGGTGTCAACTCCTG	0.542													A	62547711	G	A	62547711	3	1	16	1	0	0	0	0	1	0	0	0	15469	1377	48	4	1167	4	SYT16	14	62547711	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	6711291	62547711	44801829	1094	13416											
SYNE2	23224	broad.mit.edu	37	chr14	64634309	64634309	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagcactcaaagtggaTgtggctaacagccttcctga	11	9	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:64634309T>C	uc001xgm.2	+	92	17087	c.16857T>C	c.(16855-16857)GAT>GAC	p.D5619D	SYNE2_uc001xgl.2_Silent_p.D5619D|SYNE2_uc010apy.2_Silent_p.D2004D|SYNE2_uc001xgn.2_Silent_p.D581D|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR|SYNE2_uc001xgq.2_5'UTR	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5619	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCAAAGTGGATGTGGCTAACA	0.458													C	64634309	T	C	64634309	2	2	16	1	0	0	0	0	0	0	0	1	15443	1461	51	3		3	SYNE2	14	64634309	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	2086598	64634309	42715231	1095	13417											
FUT8	2530	broad.mit.edu	37	chr14	66082954	66082956	+	In_Frame_Del	DEL	GAG	GAG	-													gggaaggatcatgaaatcctGaggaggaggattgaaaatgg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:66082953_66082955TGAG>T	uc001xin.3	+	4	2071_2073	c.344_346TGAG>T	c.(343-348)ctgagg>cTgg	p.R118del	FUT8_uc001xio.3_In_Frame_Del_p.R118del|FUT8_uc010tsp.2_5'UTR|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_In_Frame_Del_p.R118del|FUT8_uc001xiq.3_5'UTR|FUT8_uc021ruy.1_5'Flank	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN	Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.	118					L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi	Golgi cisterna membrane|integral to membrane	SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CATGAAATCCTGAGGAGGAGGAT	0.369													-	66082956	GAG	-	66082954	7	5	16	1	0	1	0	1	0	0	0	0	6110	1277	45	0	355	0	FUT8	14	66082954	In_Frame_Del	DEL	GAG	TCGA-BR-4292-01A-01D-1126-08	1448645	66082954	41266586	1096	13418											
PLEK2	26499	broad.mit.edu	37	chr14	67862133	67862133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcactgcaggctgatgtgCgggggcagcttgaaggagtt	16	8	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:67862133C>T	uc001xjh.1	-	3	427	c.375G>A	c.(373-375)CCG>CCA	p.P125P		NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	125					actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				ovary(1)|pancreas(1)	2				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		GGCTGATGTGCGGGGGCAGCT	0.662													T	67862133	C	T	67862133	2	4	16	1	0	0	0	0	0	0	0	1	12054	755	27	1		1	PLEK2	14	67862133	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1779179	67862133	39487407	1097	13419											
PCNX	22990	broad.mit.edu	37	chr14	71542931	71542931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catttattatgttacgacctCgtctaagctagaggagtggc	10	8	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:71542931C>T	uc001xmo.2	+	28	5578	c.5132C>T	c.(5131-5133)TCG>TTG	p.S1711L	PCNX_uc010are.1_Missense_Mutation_p.S1600L|PCNX_uc010arf.1_Missense_Mutation_p.S499L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1711						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTTACGACCTCGTCTAAGCTA	0.368													T	71542931	C	T	71542931	3	4	16	1	0	0	0	0	1	0	0	0	11591	893	31	1	5242	1	PCNX	14	71542931	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3680798	71542931	35806609	1098	13420											
SIPA1L1	26037	broad.mit.edu	37	chr14	72205804	72205804	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggacaacctgaggctacagGaggagtcccagaacgcctcg	13	12	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:72205804G>T	uc001xms.2	+	22	5689	c.5341G>T	c.(5341-5343)GAG>TAG	p.E1781*	SIPA1L1_uc001xmt.2_Nonsense_Mutation_p.E1760*|SIPA1L1_uc001xmu.2_Nonsense_Mutation_p.E1759*|SIPA1L1_uc001xmv.2_Nonsense_Mutation_p.E1780*|SIPA1L1_uc010ttm.1_Nonsense_Mutation_p.E1234*|SIPA1L1_uc001xmw.2_Nonsense_Mutation_p.E546*	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1781	Potential.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAGGCTACAGGAGGAGTCCCA	0.532													T	72205804	G	T	72205804	4	4	16	1	0	0	0	0	0	1	0	0	14329	1175	41	5	5423	5	SIPA1L1	14	72205804	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	662873	72205804	35143736	1099	13421											
PAPLN	89932	broad.mit.edu	37	chr14	73718481	73718481	+	Frame_Shift_Del	DEL	G	G	-													cattacgagcggggtgctgaGggggacctggcccctgagcg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:73718481delG	uc010ttx.1	+	8	943	c.780delG	c.(778-780)GAGfs	p.E260fs	PAPLN_uc001xnw.3_Frame_Shift_Del_p.E233fs|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Frame_Shift_Del_p.E260fs	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	260						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GGGGTGCTGAGGGGGACCTGG	0.672													-	73718481	G	-	73718481	7	5	16	1	0	1	0	1	0	0	0	0	11428	991	35	0	725	0	PAPLN	14	73718481	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	1512677	73718481	33631059	1100	13422											
C14orf43	91748	broad.mit.edu	37	chr14	74205773	74205773	+	Frame_Shift_Del	DEL	G	G	-													tctgggttcatatctgggttGggggggaaggggtagggtgc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:74205773delG	uc001xot.2	-	2	1722	c.939delC	c.(937-939)CCCfs	p.P313fs	C14orf43_uc001xou.2_Frame_Shift_Del_p.P313fs|C14orf43_uc010tud.1_Frame_Shift_Del_p.P313fs|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	313	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		TATCTGGGTTGGGGGGGAAGG	0.662													-	74205773	G	-	74205773	7	5	16	1	0	1	0	1	0	0	0	0	1774	1335	47	0	2242	0	C14orf43	14	74205773	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	487292	74205773	33143767	1101	13423											
FAM161B	145483	broad.mit.edu	37	chr14	74413287	74413287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctgcctctgtgtctgCgaaggactcggggggaaata	13	11	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:74413287C>T	uc001xpd.1	-	2	182	c.76G>A	c.(76-78)GCA>ACA	p.A26T		NM_152445	NP_689658			hypothetical protein LOC145483											ovary(1)	1						TCTGTGTCTGCGAAGGACTCG	0.463													T	74413287	C	T	74413287	3	4	16	1	0	0	0	0	1	0	0	0	5473	768	27	1	1899	1	FAM161B	14	74413287	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	207514	74413287	32936253	1102	13424											
YLPM1	56252	broad.mit.edu	37	chr14	75265533	75265533	+	Frame_Shift_Del	DEL	A	A	-													agaaccaggagatggtggggAaaaaatgtatccatatcacc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:75265533delA	uc001xqj.3	+	5	3657	c.3533delA	c.(3532-3534)GAAfs	p.E1178fs	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	983	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GATGGTGGGGAAAAAATGTAT	0.517													-	75265533	A	-	75265533	7	5	16	1	0	1	0	1	0	0	0	0	17483	246	9	0	3551	0	YLPM1	14	75265533	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	852246	75265533	32084007	1103	13425											
YLPM1	56252	broad.mit.edu	37	chr14	75296006	75296006	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggattatcttcagctccccgAtgattatgatactcgtgctt	8	10	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:75296006A>G	uc001xqj.3	+	19	6378	c.6254A>G	c.(6253-6255)GAT>GGT	p.D2085G	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1890					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CAGCTCCCCGATGATTATGAT	0.473													G	75296006	A	G	75296006	3	3	16	1	0	0	0	0	1	0	0	0	17483	333	12	3	6328	3	YLPM1	14	75296006	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	30473	75296006	32053534	1104	13426											
DLST	1743	broad.mit.edu	37	chr14	75367834	75367834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccattagcaatggaggCgtttttggctcgctctttgg	11	9	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:75367834C>T	uc001xqv.2	+	14	1188	c.1125C>T	c.(1123-1125)GGC>GGT	p.G375G	DLST_uc001xqu.2_Silent_p.G287G|DLST_uc001xqt.2_Silent_p.G291G|DLST_uc010tuw.1_Silent_p.G289G	NM_001933	NP_001924	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2	375					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00698)		GCAATGGAGGCGTTTTTGGCT	0.473													T	75367834	C	T	75367834	2	4	16	1	0	0	0	0	0	0	0	1	4569	755	27	1		1	DLST	14	75367834	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	71828	75367834	31981706	1105	13427											
TTLL5	23093	broad.mit.edu	37	chr14	76368503	76368503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggtcctccgcggaaggGcagctgaatggactccagag	16	10	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:76368503G>A	uc001xrx.2	+	31	3964	c.3759G>A	c.(3757-3759)GGG>GGA	p.G1253G	TTLL5_uc001xsa.2_Silent_p.G327G	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1253					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCGCGGAAGGGCAGCTGAATG	0.567													A	76368503	G	A	76368503	2	1	16	1	0	0	0	0	0	0	0	1	16727	1190	42	2		2	TTLL5	14	76368503	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1000669	76368503	30981037	1106	13428											
ESRRB	2103	broad.mit.edu	37	chr14	76928920	76928920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagctgcccggccaccaacGagtgcgagatcaccaaacgg	11	15	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:76928920G>A	uc001xsq.1	+	3	497	c.430G>A	c.(430-432)GAG>AAG	p.E144K	ESRRB_uc001xsr.2_Missense_Mutation_p.E144K|ESRRB_uc001xso.2_RNA	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	144						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GGCCACCAACGAGTGCGAGAT	0.637													A	76928920	G	A	76928920	3	1	16	1	0	0	0	0	1	0	0	0	5261	1059	37	1	436	1	ESRRB	14	76928920	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	560417	76928920	30420620	1107	13429											
ISM2	145501	broad.mit.edu	37	chr14	77942189	77942189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatagcagcagtgctgggCggccagtgtgctgctctccc	14	13	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:77942189C>T	uc001xtz.2	-	7	1539	c.1465G>A	c.(1465-1467)GCC>ACC	p.A489T	ISM2_uc001xua.2_3'UTR|ISM2_uc001xty.2_Missense_Mutation_p.A401T|ISM2_uc010tvl.1_Missense_Mutation_p.A408T	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	isthmin 2 homolog isoform 1	489	AMOP.					extracellular region				skin(1)	1						CAGTGCTGGGCGGCCAGTGTG	0.662													T	77942189	C	T	77942189	3	4	16	1	0	0	0	0	1	0	0	0	7861	768	27	1	254	1	ISM2	14	77942189	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1013269	77942189	29407351	1108	13430											
FLRT2	23768	broad.mit.edu	37	chr14	86088949	86088949	+	Frame_Shift_Del	DEL	C	C	-													tttgtcctgtcccaccacgaCccccggcctgcctctcttca							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:86088948_86088948AC>A	uc021rxf.1	+	0	1090	c.1090_1090AC>A	c.(1090-1092)accfs	p.T364fs	FLRT2_uc001xvr.3_Frame_Shift_Del_p.T364fs|FLRT2_uc010atd.3_Frame_Shift_Del_p.T364fs	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	364					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TCCCACCACGACCCCCGGCCT	0.567													-	86088949	C	-	86088949	7	5	16	1	0	1	0	1	0	0	0	0	5939	507	18	0	1093	0	FLRT2	14	86088949	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	8146760	86088949	21260591	1109	13431											
KCNK10	54207	broad.mit.edu	37	chr14	88729810	88729810	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggaggaaatggacaggcgCggagttggagtcggagccgg	21	7	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:88729810C>T	uc001xwo.2	-	2	580	c.123G>A	c.(121-123)CCG>CCA	p.P41P	KCNK10_uc001xwm.2_Silent_p.P46P|KCNK10_uc001xwn.2_Silent_p.P46P	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	41	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						TGGACAGGCGCGGAGTTGGAG	0.652													T	88729810	C	T	88729810	2	4	16	1	0	0	0	0	0	0	0	1	8059	755	27	1		1	KCNK10	14	88729810	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2640861	88729810	18619730	1110	13432											
TTC7B	145567	broad.mit.edu	37	chr14	91247111	91247111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtaggcttctgcgatcaccCgcagcctgtagggcgggaca	14	13	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:91247111C>T	uc001xyp.2	-	3	538	c.416G>A	c.(415-417)CGG>CAG	p.R139Q		NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	139							binding			ovary(2)	2		Melanoma(154;0.222)				TGCGATCACCCGCAGCCTGTA	0.567													T	91247111	C	T	91247111	3	4	16	1	0	0	0	0	1	0	0	0	16710	652	23	1	2187	1	TTC7B	14	91247111	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2517301	91247111	16102429	1111	13433											
KIAA1409	57578	broad.mit.edu	37	chr14	94087971	94087971	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctgttttgatcaggtgaAatagaactggctgaatatag	10	4	2	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:94087971A>G	uc001ybv.1	+	28	4010	c.3927A>G	c.(3925-3927)GAA>GAG	p.E1309E	KIAA1409_uc001ybs.1_Silent_p.E1287E	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1464						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		GATCAGGTGAAATAGAACTGG	0.393													G	94087971	A	G	94087971	2	3	16	1	0	0	0	0	0	0	0	1	8230	11	1	3		3	KIAA1409	14	94087971	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	2840860	94087971	13261569	1112	13434											
PPP4R4	57718	broad.mit.edu	37	chr14	94674876	94674876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacagaatcccactgagacGcttcggagagtgttgccaaa	11	11	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:94674876G>A	uc001ycs.1	+	3	421	c.267G>A	c.(265-267)ACG>ACA	p.T89T	PPP4R4_uc001ycr.2_Silent_p.T89T	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	89						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.T89M(1)		skin(3)|upper_aerodigestive_tract(1)	4						CCACTGAGACGCTTCGGAGAG	0.388													A	94674876	G	A	94674876	2	1	16	1	0	0	0	0	0	0	0	1	12405	1074	38	1		1	PPP4R4	14	94674876	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	586905	94674876	12674664	1113	13435											
SERPINA12	145264	broad.mit.edu	37	chr14	94964713	94964713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaacagccagaaaaatggCcaggcctagtgtggggttca	14	8	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:94964713C>T	uc001ydj.2	-	3	818	c.22G>A	c.(22-24)GCC>ACC	p.A8T		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	8					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(2)|ovary(1)|lung(1)	4				COAD - Colon adenocarcinoma(157;0.235)		AGAAAAATGGCCAGGCCTAGT	0.453													T	94964713	C	T	94964713	3	4	16	1	0	0	0	0	1	0	0	0	14089	739	26	2	1238	2	SERPINA12	14	94964713	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	289837	94964713	12384827	1114	13436											
SERPINA5	5104	broad.mit.edu	37	chr14	95053815	95053815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctccatgtaggtgccaCggtggcccccagcagcagaa	13	14	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:95053815C>T	uc001ydm.2	+	3	326	c.116C>T	c.(115-117)ACG>ATG	p.T39M	SERPINA5_uc010ave.2_Missense_Mutation_p.T39M|SERPINA5_uc001ydn.1_Missense_Mutation_p.T39M	NM_000624	NP_000615	P05154	IPSP_HUMAN	serine (or cysteine) proteinase inhibitor, clade	39					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(2)	2				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GTAGGTGCCACGGTGGCCCCC	0.622													T	95053815	C	T	95053815	3	4	16	1	0	0	0	0	1	0	0	0	14092	536	19	1	118	1	SERPINA5	14	95053815	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	89102	95053815	12295725	1115	13437											
YY1	7528	broad.mit.edu	37	chr14	100728644	100728645	+	Frame_Shift_Ins	INS	-	-	A													tcatgatgtgtttcagatgaINSaaaaaaagatattgaccatg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:100728643_100728644G>GA	uc001ygy.1	+	1	1162_1163	c.682_683G>GA	c.(682-684)gaafs	p.E228fs		NM_003403	NP_003394	P25490	TYY1_HUMAN	Homo sapiens YY1 transcription factor (YY1), mRNA.	228					cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				TGTTTCAGATGAAAAAAAAGAT	0.327													A	100728645	-	A	100728644	7	5	16	1	0	1	1	0	0	0	0	0	17504	246	9	0	689	0	YY1	14	100728644	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	5674829	100728644	6620896	1116	13438											
ADSSL1	122622	broad.mit.edu	37	chr14	105207522	105207523	+	Frame_Shift_Ins	INS	-	-	C													tgtatgaggcactccacggcINSccccccaagaagatcctggt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:105207521_105207522G>GC	uc001ypd.3	+	7	808_809	c.734_735G>GC	c.(733-735)ggcfs	p.G245fs	ADSSL1_uc001ype.3_Frame_Shift_Ins_p.G288fs|ADSSL1_uc001ypf.3_Non-coding_Transcript	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 2, mRNA.	245					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GCACTCCACGGCCCCCCCAAGA	0.594													C	105207523	-	C	105207522	7	5	16	1	0	1	1	0	0	0	0	0	348	726	26	0	1090	0	ADSSL1	14	105207522	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	4478878	105207522	2142018	1117	13439											
KIAA0284	283638	broad.mit.edu	37	chr14	105346747	105346747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggccggagaagggggacCggagaccaggaacaggtagg	19	9	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:105346747C>T	uc010axb.2	+	6	681	c.457C>T	c.(457-459)CGG>TGG	p.R153W	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.R83W|KIAA0284_uc001yps.2_Missense_Mutation_p.R59W	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	153						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GAAGGGGGACCGGAGACCAGG	0.667													T	105346747	C	T	105346747	3	4	16	1	0	0	0	0	1	0	0	0	8166	643	23	1	475	1	KIAA0284	14	105346747	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	139225	105346747	2002793	1118	13440											
AHNAK2	113146	broad.mit.edu	37	chr14	105406444	105406444	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaggtcagcttcaggcTggctcacctccaccttggcc	12	15	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr14:105406444T>C	uc010axc.1	-	7	15464	c.15344A>G	c.(15343-15345)CAG>CGG	p.Q5115R	AHNAK2_uc001ypx.2_Missense_Mutation_p.Q5015R	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5115						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)			AGCTTCAGGCTGGCTCACCTC	0.582													C	105406444	T	C	105406444	3	2	16	1	0	0	0	0	1	0	0	0	415	1580	55	3	2047	3	AHNAK2	14	105406444	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	59697	105406444	1943096	1119	13441											
HERC2	8924	broad.mit.edu	37	chr15	28366578	28366578	+	Splice_Site	DEL	A	A	-													tttccggaaagccgcctcctAaaacacatcaaacagacaaa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:28366577_28366577TA>T	uc001zbj.3	-	86	13295	c.13189_splice	c.e86-1	p.E4397_splice		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	4397					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGCCGCCTCCTAAAACACATC	0.438													-	28366578	A	-	28366578	8	5	16	1	0	1	0	1	0	0	1	0	7058	377	13	0		0	HERC2	15	28366578	Splice_Site	DEL	A	TCGA-BR-4292-01A-01D-1126-08		28366578	74164814	1120	13442											
HERC2	8924	broad.mit.edu	37	chr15	28463820	28463820	+	Splice_Site	DEL	A	A	-													tttcagtttgttcggcttctAaaaaaaataatcaaaattac							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:28463819_28463819TA>T	uc001zbj.3	-	38	5952	c.5846_splice	c.e38-1	p.E1949_splice		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1949					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTTCGGCTTCTAAAAAAAATA	0.333													-	28463820	A	-	28463820	8	5	16	1	0	1	0	1	0	0	1	0	7058	377	13	0		0	HERC2	15	28463820	Splice_Site	DEL	A	TCGA-BR-4292-01A-01D-1126-08	97242	28463820	74067572	1121	13443											
RYR3	6263	broad.mit.edu	37	chr15	34113561	34113561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtccttcagatgataagcGctagcaaaggtgatttccct	10	9	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:34113561G>A	uc001zhi.2	+	79	10976	c.10906G>A	c.(10906-10908)GCT>ACT	p.A3636T	RYR3_uc010bar.2_Missense_Mutation_p.A3631T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3636					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GATGATAAGCGCTAGCAAAGG	0.473													A	34113561	G	A	34113561	3	1	16	1	0	0	0	0	1	0	0	0	13770	1087	38	1	11220	1	RYR3	15	34113561	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	5649741	34113561	68417831	1122	13444											
RYR3	6263	broad.mit.edu	37	chr15	34145278	34145278	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taactactgggacaagtttgTaaagagaaaggtatgccttg	11	5	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:34145278T>C	uc001zhi.2	+	95	13731	c.13661T>C	c.(13660-13662)GTA>GCA	p.V4554A	RYR3_uc010bar.2_Missense_Mutation_p.V4549A	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4554					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACAAGTTTGTAAAGAGAAAG	0.353													C	34145278	T	C	34145278	3	2	16	1	0	0	0	0	1	0	0	0	13770	1638	57	3	14039	3	RYR3	15	34145278	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	31717	34145278	68386114	1123	13445											
C15orf55	256646	broad.mit.edu	37	chr15	34649679	34649679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagaaggaagaaacgacGtcgtagccagtagggagcag	17	7	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:34649679G>A	uc001zif.2	+	7	3541	c.3386G>A	c.(3385-3387)CGT>CAT	p.R1129H	C15orf55_uc010ucc.1_Missense_Mutation_p.R1157H|C15orf55_uc010ucd.1_Missense_Mutation_p.R1147H	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	1129						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		AAGAAACGACGTCGTAGCCAG	0.587			T	BRD3|BRD4	lethal midline carcinoma								A	34649679	G	A	34649679	3	1	16	1	0	0	0	0	1	0	0	0	1803	1145	40	1	3412	1	C15orf55	15	34649679	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	504401	34649679	67881713	1124	13446											
LPCAT4	254531	broad.mit.edu	37	chr15	34655878	34655878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccagactgttggggtagCggatgaggacaggctgcaca	15	9	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:34655878C>T	uc001zig.2	-	6	789	c.695G>A	c.(694-696)CGC>CAC	p.R232H		NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	232					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding				0						GTTGGGGTAGCGGATGAGGAC	0.512													T	34655878	C	T	34655878	3	4	16	1	0	0	0	0	1	0	0	0	8913	768	27	1	915	1	LPCAT4	15	34655878	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	6199	34655878	67875514	1125	13447											
MEIS2	4212	broad.mit.edu	37	chr15	37329090	37329090	+	Frame_Shift_Del	DEL	T	T	-													atgcctcttttcttctggcgTtttttgtccttatccggatc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:37329090delT	uc001zjr.2	-	8	1862	c.825delA	c.(823-825)AAAfs	p.K275fs	MEIS2_uc001zjl.2_Frame_Shift_Del_p.K262fs|MEIS2_uc010ucj.1_Frame_Shift_Del_p.K262fs|MEIS2_uc001zjm.2_Frame_Shift_Del_p.K187fs|MEIS2_uc001zjn.2_Frame_Shift_Del_p.K129fs|MEIS2_uc001zjo.2_Frame_Shift_Del_p.K275fs|MEIS2_uc001zjp.2_Frame_Shift_Del_p.K275fs|MEIS2_uc001zjs.2_Frame_Shift_Del_p.K275fs|MEIS2_uc001zju.2_Frame_Shift_Del_p.K262fs|MEIS2_uc001zjt.2_Frame_Shift_Del_p.K275fs	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	275					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)	2		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TCTTCTGGCGTTTTTTGTCCT	0.398													-	37329090	T	-	37329090	7	5	16	1	0	1	0	1	0	0	0	0	9468	1722	60	0	691	0	MEIS2	15	37329090	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	2673212	37329090	65202302	1126	13448											
INO80	54617	broad.mit.edu	37	chr15	41366688	41366688	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatcatgacccatatctcGtttgcgactcatgaaatggg	8	11	3	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:41366688G>A	uc001zni.2	-	10	1420	c.1207C>T	c.(1207-1209)CGA>TGA	p.R403*	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	403	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						CCCATATCTCGTTTGCGACTC	0.423													A	41366688	G	A	41366688	4	1	16	1	0	0	0	0	0	1	0	0	7746	1153	40	1	3571	1	INO80	15	41366688	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	4037598	41366688	61164704	1127	13449											
RTF1	23168	broad.mit.edu	37	chr15	41749961	41749963	+	In_Frame_Del	DEL	AGA	AGA	-													gagttccatgatggctatggAgaagacctcatgggagatga							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:41749960_41749962GAGA>G	uc001zny.3	+	3	560_562	c.548_550GAGA>G	c.(547-552)ggagaa>gGaa	p.E184del		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Homo sapiens Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (RTF1), mRNA.	184	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GATGGCTATGGAGAAGACCTCAT	0.483													-	41749963	AGA	-	41749961	7	5	16	1	0	1	0	1	0	0	0	0	13721	291	11	0	563	0	RTF1	15	41749961	In_Frame_Del	DEL	AGA	TCGA-BR-4292-01A-01D-1126-08	383273	41749961	60781431	1128	13450											
LTK	4058	broad.mit.edu	37	chr15	41800405	41800405	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttcggatctctacctctcCgtggttctcggtgactgtga	10	13	3	2	rs141049740		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:41800405C>A	uc001zoa.3	-	9	1289	c.1111G>T	c.(1111-1113)GGA>TGA	p.G371*	LTK_uc001zob.3_Nonsense_Mutation_p.G310*|LTK_uc010ucx.1_Nonsense_Mutation_p.G310*|LTK_uc010bcg.2_Nonsense_Mutation_p.G53*	NM_002344	NP_002335	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase isoform 1	371	Extracellular (Potential).				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|central_nervous_system(1)	7		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TCTACCTCTCCGTGGTTCTCG	0.458										TSP Lung(18;0.14)			A	41800405	C	A	41800405	4	1	16	1	0	0	0	0	0	1	0	0	9080	661	23	5	1531	5	LTK	15	41800405	Nonsense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	50444	41800405	60730987	1129	13451											
LTK	4058	broad.mit.edu	37	chr15	41804949	41804949	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgccacagctgcacgcctctCagctgcccggcggcccccac	10	22	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:41804949C>T	uc001zoa.3	-	3	493	c.315G>A	c.(313-315)CTG>CTA	p.L105L	LTK_uc001zob.3_Silent_p.L105L|LTK_uc010ucx.1_Silent_p.L105L|LTK_uc010bcg.2_Intron	NM_002344	NP_002335	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase isoform 1	105	Extracellular (Potential).				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|central_nervous_system(1)	7		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCACGCCTCTCAGCTGCCCGG	0.697										TSP Lung(18;0.14)			T	41804949	C	T	41804949	2	4	16	1	0	0	0	0	0	0	0	1	9080	813	29	4		4	LTK	15	41804949	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	4544	41804949	60726443	1130	13452											
MAPKBP1	23005	broad.mit.edu	37	chr15	42105236	42105236	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagtaccttctgcatcacGtcctcagggctgctgtgcga	11	13	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:42105236G>A	uc001zok.3	+	8	1042	c.756G>A	c.(754-756)ACG>ACA	p.T252T	MAPKBP1_uc001zoj.3_Silent_p.T252T|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Silent_p.T252T|MAPKBP1_uc010udb.1_Silent_p.T140T|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	252										central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TCTGCATCACGTCCTCAGGGC	0.577													A	42105236	G	A	42105236	2	1	16	1	0	0	0	0	0	0	0	1	9292	1132	40	1		1	MAPKBP1	15	42105236	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	300287	42105236	60426156	1131	13453											
CDAN1	146059	broad.mit.edu	37	chr15	43021275	43021275	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgccacgaactctacggtcCggcgcaaggagggcggctgg	16	13	1	0	rs145082607		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:43021275C>A	uc001zql.2	-	19	2708	c.2591G>T	c.(2590-2592)CGG>CTG	p.R864L	CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Missense_Mutation_p.R190L	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	864						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CTCTACGGTCCGGCGCAAGGA	0.562													A	43021275	C	A	43021275	3	1	16	1	0	0	0	0	1	0	0	0	3054	652	23	5	1132	5	CDAN1	15	43021275	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	916039	43021275	59510117	1132	13454											
LCMT2	9836	broad.mit.edu	37	chr15	43622232	43622232	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaggatgcagtagtctgcGctctcaaagcacagcgcgga	12	13	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:43622232G>T	uc001zrg.2	-	1	660	c.456C>A	c.(454-456)AGC>AGA	p.S152R	LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	152					tRNA processing		methyltransferase activity|protein binding				0		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	AGTAGTCTGCGCTCTCAAAGC	0.677													T	43622232	G	T	43622232	3	4	16	1	0	0	0	0	1	0	0	0	8679	1078	38	5	1608	5	LCMT2	15	43622232	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	600957	43622232	58909160	1133	13455											
CKMT1B	1159	broad.mit.edu	37	chr15	43891410	43891410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatttgattgattgtgaacGgcgtctggagagaggccagg	15	6	1	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:43891410G>A	uc001zsc.2	+	10	1585	c.1193G>A	c.(1192-1194)CGG>CAG	p.R398Q	CKMT1B_uc010uds.1_Missense_Mutation_p.R429Q|CKMT1B_uc001zsd.3_Missense_Mutation_p.R398Q|CKMT1B_uc010bdj.2_RNA	NM_020990	NP_066270	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B precursor	398	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	GATTGTGAACGGCGTCTGGAG	0.493													A	43891410	G	A	43891410	3	1	16	1	0	0	0	0	1	0	0	0	3450	1116	39	1	1227	1	CKMT1B	15	43891410	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	269178	43891410	58639982	1134	13456											
WDR76	79968	broad.mit.edu	37	chr15	44131849	44131849	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggatgtagaaggtcaatgCgattactaaaagttgatcct	10	5	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:44131849C>T	uc001zti.1	+	5	678	c.655C>T	c.(655-657)CGA>TGA	p.R219*		NM_024908	NP_079184	Q9H967	WDR76_HUMAN	WD repeat domain 76	219											0		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		AAGGTCAATGCGATTACTAAA	0.373													T	44131849	C	T	44131849	4	4	16	1	0	0	0	0	0	1	0	0	17323	760	27	1	673	1	WDR76	15	44131849	Nonsense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	240439	44131849	58399543	1135	13457											
USP8	9101	broad.mit.edu	37	chr15	50774185	50774185	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aagatagggggaaaaggtgtCcaaccccagaaatacagaaa	11	7	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:50774185C>A	uc001zym.3	+	12	2226	c.1726C>A	c.(1726-1728)CCA>ACA	p.P576T	USP8_uc001zyk.1_Missense_Mutation_p.P277T|USP8_uc001zyl.3_Missense_Mutation_p.P576T|USP8_uc001zyn.3_Missense_Mutation_p.P576T|USP8_uc010ufh.1_Missense_Mutation_p.P499T|USP8_uc010bev.1_Missense_Mutation_p.P205T	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	576					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GAAAAGGTGTCCAACCCCAGA	0.343													A	50774185	C	A	50774185	3	1	16	1	0	0	0	0	1	0	0	0	17086	855	30	5	1764	5	USP8	15	50774185	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	6642336	50774185	51757207	1136	13458											
TRPM7	54822	broad.mit.edu	37	chr15	50901830	50901830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gataaaaggcataaaactttCgcgtaattggaagctttttt	8	5	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:50901830C>T	uc001zyt.3	-	19	2792	c.2528G>A	c.(2527-2529)CGA>CAA	p.R843Q	TRPM7_uc010bew.1_Missense_Mutation_p.R843Q|TRPM7_uc001zyu.2_Missense_Mutation_p.R401Q	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	843	Extracellular (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ATAAAACTTTCGCGTAATTGG	0.299													T	50901830	C	T	50901830	3	4	16	1	0	0	0	0	1	0	0	0	16588	884	31	1	3153	1	TRPM7	15	50901830	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	127645	50901830	51629562	1137	13459											
GLDN	342035	broad.mit.edu	37	chr15	51634199	51634199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcgccgcatatccgcgcCgagagccatgacatgctgat	11	16	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:51634199C>T	uc002aba.2	+	1	487	c.318C>T	c.(316-318)GCC>GCT	p.A106A	GLDN_uc010bez.1_Silent_p.A106A	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	106	Extracellular (Potential).				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		ATATCCGCGCCGAGAGCCATG	0.726													T	51634199	C	T	51634199	2	4	16	1	0	0	0	0	0	0	0	1	6434	639	23	1		1	GLDN	15	51634199	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	732369	51634199	50897193	1138	13460											
UNC13C	440279	broad.mit.edu	37	chr15	54793039	54793039	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctctccccacagttccagCagacatctgagcatgctctc	6	17	3	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:54793039C>T	uc002ack.2	+	20	5164	c.5164C>T	c.(5164-5166)CAG>TAG	p.Q1722*		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1722	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACAGTTCCAGCAGACATCTGA	0.448													T	54793039	C	T	54793039	4	4	16	1	0	0	0	0	0	1	0	0	16983	711	25	2	5242	2	UNC13C	15	54793039	Nonsense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3158840	54793039	47738353	1139	13461											
PIGB	9488	broad.mit.edu	37	chr15	55626105	55626105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcacttgccttcataattCgtcccacagctgtcattctg	7	13	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:55626105C>T	uc002act.2	+	6	1010	c.694C>T	c.(694-696)CGT>TGT	p.R232C	PIGB_uc010ugg.1_Missense_Mutation_p.R37C	NM_004855	NP_004846	Q92521	PIGB_HUMAN	phosphatidylinositol glycan, class B	232	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity				0				all cancers(107;0.0255)		CTTCATAATTCGTCCCACAGC	0.383													T	55626105	C	T	55626105	3	4	16	1	0	0	0	0	1	0	0	0	11885	884	31	1	716	1	PIGB	15	55626105	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	833066	55626105	46905287	1140	13462											
DYX1C1	161582	broad.mit.edu	37	chr15	55759182	55759182	+	Frame_Shift_Del	DEL	T	T	-													agtaagactcttatattttaTtttttttctttcttctttaa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:55759182delT	uc002adc.2	-	5	951	c.583delA	c.(583-585)ATAfs	p.I195fs	CCPG1_uc002acy.2_5'UTR|DYX1C1_uc010ugh.1_RNA|DYX1C1_uc010ugi.1_Intron|DYX1C1_uc002adb.2_Frame_Shift_Del_p.I195fs|DYX1C1_uc002add.2_Frame_Shift_Del_p.I195fs	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1 isoform a	195					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			skin(1)	1				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		ttatattttattttttttctt	0.154													-	55759182	T	-	55759182	7	5	16	1	0	1	0	1	0	0	0	0	4862	1493	52	0	806	0	DYX1C1	15	55759182	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	133077	55759182	46772210	1141	13463											
CGNL1	84952	broad.mit.edu	37	chr15	57810601	57810601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcattgtagggagaaatacGacagttagaggaggcccttg	13	6	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:57810601G>A	uc002aeg.2	+	10	2697	c.2621G>A	c.(2620-2622)CGA>CAA	p.R874Q	CGNL1_uc010bfw.2_Missense_Mutation_p.R874Q	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN	cingulin-like 1	874	Potential.					myosin complex|tight junction	motor activity	p.R874R(1)		skin(6)|ovary(4)|central_nervous_system(1)	11				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GGAGAAATACGACAGTTAGAG	0.478													A	57810601	G	A	57810601	3	1	16	1	0	0	0	0	1	0	0	0	3304	1058	37	1	2655	1	CGNL1	15	57810601	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2051419	57810601	44720791	1142	13464											
VPS13C	54832	broad.mit.edu	37	chr15	62148607	62148607	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctttatacacaacactcGcctattttgcaaaagaaaac	3	11	0	1	rs138846118		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:62148607G>A	uc002agz.2	-	83	11028	c.10954C>T	c.(10954-10956)CGA>TGA	p.R3652*	VPS13C_uc002aha.2_Nonsense_Mutation_p.R3609*	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3652					protein localization					ovary(2)	2						CACAACACTCGCCTATTTTGC	0.378													A	62148607	G	A	62148607	4	1	16	1	0	0	0	0	0	1	0	0	17188	1101	38	1	319	1	VPS13C	15	62148607	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	4338006	62148607	40382785	1143	13465											
TLN2	83660	broad.mit.edu	37	chr15	63054564	63054564	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacgctctctggccatcAaccccaaagacccacccacc	5	21	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:63054564A>G	uc002alb.3	+	36	4873	c.4873A>G	c.(4873-4875)AAC>GAC	p.N1625D	TLN2_uc002alc.3_Missense_Mutation_p.N18D|TLN2_uc002ald.2_Missense_Mutation_p.N18D	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1625					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						TCTGGCCATCAACCCCAAAGA	0.542													G	63054564	A	G	63054564	3	3	16	1	0	0	0	0	1	0	0	0	15945	130	5	3	5015	3	TLN2	15	63054564	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	905957	63054564	39476828	1144	13466											
TRIP4	9325	broad.mit.edu	37	chr15	64686305	64686305	+	Frame_Shift_Del	DEL	A	A	-													atcctttgcagcagtgcttcAaaaaagatggtaagttaatg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:64686305delA	uc002anm.2	+	2	305	c.262delA	c.(262-264)AAAfs	p.K88fs		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	88					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3						GCAGTGCTTCAAAAAAGATGG	0.318													-	64686305	A	-	64686305	7	5	16	1	0	1	0	1	0	0	0	0	16555	131	5	0	268	0	TRIP4	15	64686305	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	1631741	64686305	37845087	1145	13467											
ZNF609	23060	broad.mit.edu	37	chr15	64966762	64966762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcagctacccccaaagttcGacttgtagagccccatagcc	7	16	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:64966762G>A	uc002ann.2	+	4	1709	c.1709G>A	c.(1708-1710)CGA>CAA	p.R570Q		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	570						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CCCAAAGTTCGACTTGTAGAG	0.527													A	64966762	G	A	64966762	3	1	16	1	0	0	0	0	1	0	0	0	18032	1058	37	1	1723	1	ZNF609	15	64966762	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	280457	64966762	37564630	1146	13468											
IGDCC4	57722	broad.mit.edu	37	chr15	65678319	65678319	+	Frame_Shift_Del	DEL	G	G	-													tcatgggcagctggggggctGggggggccaagccgagctct							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:65678319delG	uc002aou.1	-	18	3240	c.3030delC	c.(3028-3030)CCCfs	p.P1010fs	IGDCC4_uc002aot.1_Frame_Shift_Del_p.P598fs	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	1010	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						CTGGGGGGCTGGGGGGGCCAA	0.662											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	65678319	G	-	65678319	7	5	16	1	0	1	0	1	0	0	0	0	7569	1335	47	0	734	0	IGDCC4	15	65678319	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	711557	65678319	36853073	1147	13469											
IGDCC4	57722	broad.mit.edu	37	chr15	65686807	65686807	+	Frame_Shift_Del	DEL	G	G	-													acctgcccattgctcaggctGgggggcaggggcagccacgc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:65686806_65686806TG>T	uc002aou.1	-	8	1867	c.1657_1657CA>A	c.(1657-1659)agcfs	p.S553fs	IGDCC4_uc002aot.1_Frame_Shift_Del_p.S141fs	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	553	Fibronectin type-III 2.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTGCTCAGGCTGGGGGGCAGG	0.597													-	65686807	G	-	65686807	7	5	16	1	0	1	0	1	0	0	0	0	7569	1335	47	0	2144	0	IGDCC4	15	65686807	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	8488	65686807	36844585	1148	13470											
MEGF11	84465	broad.mit.edu	37	chr15	66220800	66220800	+	Frame_Shift_Del	DEL	G	G	-													cagcagcagtggcctgtgacGgggtcacatccatcagcatg					rs137866207	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:66220799_66220799CG>C	uc002apm.2	-	12	1780	c.1639_1639CG>G	c.(1639-1641)gtcfs	p.V547fs	MEGF11_uc002apl.2_Frame_Shift_Del_p.V472fs|MEGF11_uc002apn.1_Frame_Shift_Del_p.V547fs	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	547						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TGGCCTGTGACGGGGTCACAT	0.542													-	66220800	G	-	66220800	7	5	16	1	0	1	0	1	0	0	0	0	9461	1103	39	0	1540	0	MEGF11	15	66220800	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	533993	66220800	36310592	1149	13471											
ITGA11	22801	broad.mit.edu	37	chr15	68623337	68623337	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accacagaatcacagcgttgCcaagggctcccactgccagg	10	15	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:68623337C>A	uc002ari.2	-	15	1970	c.1883G>T	c.(1882-1884)GGC>GTC	p.G628V	ITGA11_uc010bib.2_Missense_Mutation_p.G628V	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	628	FG-GAP 7.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	CACAGCGTTGCCAAGGGCTCC	0.557													A	68623337	C	A	68623337	3	1	16	1	0	0	0	0	1	0	0	0	7874	739	26	5	1747	5	ITGA11	15	68623337	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2402537	68623337	33908055	1150	13472											
SPESP1	246777	broad.mit.edu	37	chr15	69238555	69238555	+	Frame_Shift_Del	DEL	A	A	-													ggaataatgatgacattttgAaaaaaattttagatattaat							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:69238554_69238554GA>G	uc002arn.2	+	1	835	c.681_681GA>G	c.(679-681)ttgfs	p.L227fs	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Intron|NOX5_uc002arp.2_Intron|NOX5_uc010bid.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	Homo sapiens sperm equatorial segment protein 1 (SPESP1), mRNA.	227					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						ATGACATTTTGAAAAAAATTT	0.393													-	69238555	A	-	69238555	7	5	16	1	0	1	0	1	0	0	0	0	15039	247	9	0	688	0	SPESP1	15	69238555	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	615218	69238555	33292837	1151	13473											
UACA	55075	broad.mit.edu	37	chr15	70961076	70961077	+	Frame_Shift_Ins	INS	-	-	T													ctctttccatttctactaatINSttttttgctttctcattcac							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:70961075_70961076A>AT	uc002asr.3	-	15	2051_2052	c.1947_1948T>AT	c.(1945-1950)aaattafs	p.K649fs	UACA_uc010uke.2_Frame_Shift_Ins_p.K540fs|UACA_uc002asq.3_Frame_Shift_Ins_p.K636fs|UACA_uc010bin.1_Frame_Shift_Ins_p.K624fs	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	649						cytoskeleton|extracellular region		p.E650D(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATTTCTACTAATTTTTTTGCTT	0.351													T	70961077	-	T	70961076	7	5	16	1	0	1	1	0	0	0	0	0	16821	1490	52	0	2319	0	UACA	15	70961076	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1722521	70961076	31570316	1152	13474											
MYO9A	4649	broad.mit.edu	37	chr15	72170488	72170488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattcacccagtgaatcacGctgctcaagcctcatcgtct	7	14	5	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:72170488G>A	uc002atl.3	-	31	6297	c.5824C>T	c.(5824-5826)CGT>TGT	p.R1942C	MYO9A_uc002atk.2_Missense_Mutation_p.R737C|MYO9A_uc002atm.1_Missense_Mutation_p.R738C	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1942	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						AGTGAATCACGCTGCTCAAGC	0.383													A	72170488	G	A	72170488	3	1	16	1	0	0	0	0	1	0	0	0	10084	1087	38	1	1870	1	MYO9A	15	72170488	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1209412	72170488	30360904	1153	13475											
PKM2	5315	broad.mit.edu	37	chr15	72502148	72502148	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccatgtaggcgttatccAgcgtgattttgagagtggct	12	7	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:72502148A>G	uc002atx.1	-	5	672	c.431T>C	c.(430-432)CTG>CCG	p.L144P	PKM2_uc002ats.1_5'Flank|PKM2_uc002att.1_5'Flank|PKM2_uc002atu.1_5'UTR|PKM2_uc010bit.1_Missense_Mutation_p.L149P|PKM2_uc010uki.1_Missense_Mutation_p.L218P|PKM2_uc002atv.1_Missense_Mutation_p.L179P|PKM2_uc002atw.1_Missense_Mutation_p.L144P|PKM2_uc002aty.1_Missense_Mutation_p.L144P|PKM2_uc010ukj.1_Missense_Mutation_p.L129P|PKM2_uc010ukk.1_Missense_Mutation_p.L70P|PKM2_uc010biu.1_Missense_Mutation_p.L165P|PKM2_uc002atz.1_RNA	NM_182471	NP_872271	P14618	KPYM_HUMAN	pyruvate kinase, muscle isoform M1	144					glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)	1					Pyruvic acid(DB00119)	GGCGTTATCCAGCGTGATTTT	0.517													G	72502148	A	G	72502148	3	3	16	1	0	0	0	0	1	0	0	0	11977	188	7	3	1363	3	PKM2	15	72502148	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	331660	72502148	30029244	1154	13476											
PML	5371	broad.mit.edu	37	chr15	74315711	74315711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgacgagttcaaggtgcGcctgcaggacctcagctctt	11	13	3	0	rs149871195		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:74315711G>A	uc002awv.2	+	3	1285	c.1145G>A	c.(1144-1146)CGC>CAC	p.R382H	PML_uc002awm.2_Missense_Mutation_p.R382H|PML_uc002awl.2_Missense_Mutation_p.R382H|PML_uc002awj.1_Missense_Mutation_p.R382H|PML_uc002awk.2_Missense_Mutation_p.R382H|PML_uc002awn.2_Missense_Mutation_p.R382H|PML_uc002awo.2_Missense_Mutation_p.R382H|PML_uc002awp.2_Missense_Mutation_p.R382H|PML_uc002awq.2_Missense_Mutation_p.R382H|PML_uc002awr.2_Missense_Mutation_p.R382H|PML_uc002aws.2_Missense_Mutation_p.R382H|PML_uc002awt.2_Missense_Mutation_p.R382H|PML_uc002awu.2_Missense_Mutation_p.R382H|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.R297H|PML_uc002awx.2_Missense_Mutation_p.R140H|PML_uc002awy.2_5'Flank	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	382					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						TTCAAGGTGCGCCTGCAGGAC	0.672			T	RARA|PAX5	APL|ALL								A	74315711	G	A	74315711	3	1	16	1	0	0	0	0	1	0	0	0	12135	1087	38	1	1155	1	PML	15	74315711	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1813563	74315711	28215681	1155	13477											
ISLR2	57611	broad.mit.edu	37	chr15	74425791	74425791	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgccctgccctgtgcaccGcccagcgtgcatctgagtgc	11	19	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:74425791G>A	uc002axd.2	+	4	1465	c.696G>A	c.(694-696)CCG>CCA	p.P232P	ISLR2_uc002axe.2_Silent_p.P232P|ISLR2_uc010bjg.2_Silent_p.P232P|ISLR2_uc010bjf.2_Silent_p.P232P	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	232	Extracellular (Potential).|LRRCT.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						CCTGTGCACCGCCCAGCGTGC	0.706													A	74425791	G	A	74425791	2	1	16	1	0	0	0	0	0	0	0	1	7859	1074	38	1		1	ISLR2	15	74425791	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	110080	74425791	28105601	1156	13478											
NEIL1	79661	broad.mit.edu	37	chr15	75644674	75644674	+	Frame_Shift_Del	DEL	C	C	-													ccccactacaggctgaagatCcccccctttgagaaggcccg					rs34322656		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:75644673_75644673TC>T	uc002bae.3	+	3	974	c.821_821TC>T	c.(820-822)atcfs	p.I274fs	NEIL1_uc002bad.3_Frame_Shift_Del_p.I188fs	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	Homo sapiens nei endonuclease VIII-like 1 (E. coli) (NEIL1), mRNA.	188					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	DNA-(apurinic or apyrimidinic site) lyase activity|damaged DNA binding|protein C-terminus binding|zinc ion binding	p.R274R(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						AGGCTGAAGATCCCCCCCTTT	0.647								Base excision repair (BER), DNA glycosylases					-	75644674	C	-	75644674	7	5	16	1	0	1	0	1	0	0	0	0	10318	845	30	0	574	0	NEIL1	15	75644674	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	1218883	75644674	26886718	1157	13479											
SIN3A	25942	broad.mit.edu	37	chr15	75692403	75692403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagcgttcatcttcacaaCgataaatatgttcttcatat	4	9	5	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:75692403C>T	uc002bai.2	-	12	2091	c.1832G>A	c.(1831-1833)CGT>CAT	p.R611H	SIN3A_uc002baj.2_Missense_Mutation_p.R611H|SIN3A_uc010uml.1_Missense_Mutation_p.R611H	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	611	Interactions with SUDS3 and SAP130.|Interaction with NCOR1 (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						ATCTTCACAACGATAAATATG	0.433													T	75692403	C	T	75692403	3	4	16	1	0	0	0	0	1	0	0	0	14325	536	19	1	2029	1	SIN3A	15	75692403	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	47729	75692403	26838989	1158	13480											
IREB2	3658	broad.mit.edu	37	chr15	78780136	78780136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacagcacccttatcagacGcagttttaaatgcagtaaaa	6	9	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:78780136G>A	uc002bdr.2	+	14	1933	c.1771G>A	c.(1771-1773)GCA>ACA	p.A591T	IREB2_uc010unb.1_Missense_Mutation_p.A341T	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	591							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CTTATCAGACGCAGTTTTAAA	0.313													A	78780136	G	A	78780136	3	1	16	1	0	0	0	0	1	0	0	0	7826	1087	38	1	1825	1	IREB2	15	78780136	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	3087733	78780136	23751256	1159	13481											
RASGRF1	5923	broad.mit.edu	37	chr15	79356791	79356791	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatggctgccacccattcGtcacaatcttttgcgtcctc	7	15	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:79356791G>A	uc002beq.2	-	2	729	c.354C>T	c.(352-354)GAC>GAT	p.D118D	RASGRF1_uc002bep.2_Silent_p.D118D|RASGRF1_uc010blm.1_Silent_p.D40D|RASGRF1_uc002ber.3_Silent_p.D118D	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	118	PH 1.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						CCACCCATTCGTCACAATCTT	0.532													A	79356791	G	A	79356791	2	1	16	1	0	0	0	0	0	0	0	1	13072	1136	40	1		1	RASGRF1	15	79356791	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	576655	79356791	23174601	1160	13482											
FAH	2184	broad.mit.edu	37	chr15	80452206	80452206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaggctcagagatgacaccGaacttcggaagtggtgagaa	13	9	1	3	rs11555097		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:80452206G>A	uc002bfj.2	+	4	383	c.301G>A	c.(301-303)GAA>AAA	p.E101K	FAH_uc002bfk.1_Missense_Mutation_p.E101K|FAH_uc002bfm.1_Missense_Mutation_p.E101K|FAH_uc002bfn.1_Missense_Mutation_p.E31K|FAH_uc010unl.1_Missense_Mutation_p.E101K|FAH_uc002bfl.1_Missense_Mutation_p.E101K	NM_000137	NP_000128	P16930	FAAA_HUMAN	fumarylacetoacetase	101					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding				0						AGATGACACCGAACTTCGGAA	0.572									Tyrosinemia_type_1				A	80452206	G	A	80452206	3	1	16	1	0	0	0	0	1	0	0	0	5371	1059	37	1	311	1	FAH	15	80452206	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1095415	80452206	22079186	1161	13483											
FSD2	123722	broad.mit.edu	37	chr15	83434691	83434691	+	Frame_Shift_Del	DEL	C	C	-													gctcgctcctcacgctggggCcccccatattgagggctcgc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:83434691delC	uc002bjd.2	-	10	1813	c.1646delG	c.(1645-1647)GGCfs	p.G549fs	FSD2_uc010uol.1_Frame_Shift_Del_p.G504fs|FSD2_uc010uom.1_Frame_Shift_Del_p.G504fs	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing	549	Fibronectin type-III 2.|B30.2/SPRY.									central_nervous_system(1)	1						CACGCTGGGGCCCCCCATATT	0.617													-	83434691	C	-	83434691	7	5	16	1	0	1	0	1	0	0	0	0	6071	739	26	0	619	0	FSD2	15	83434691	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	2982485	83434691	19096701	1162	13484											
BTBD1	53339	broad.mit.edu	37	chr15	83725144	83725147	+	Frame_Shift_Del	DEL	AGTA	AGTA	-													tagctacatttacttacctgAgtaagtaacataaaggcatt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:83725143_83725146GAGTA>G	uc002bjn.3	-	1	756_759	c.553_556TACTC>C	c.(553-558)actcagfs	p.T185fs	BTBD1_uc002bjo.3_Frame_Shift_Del_p.T185fs	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	Homo sapiens BTB (POZ) domain containing 1 (BTBD1), transcript variant 1, mRNA.	185						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		TTACTTACCTGAGTAAGTAACATA	0.338													-	83725147	AGTA	-	83725144	7	5	16	1	0	1	0	1	0	0	0	0	1537	291	11	0	921	0	BTBD1	15	83725144	Frame_Shift_Del	DEL	AGTA	TCGA-BR-4292-01A-01D-1126-08	290453	83725144	18806248	1163	13485											
TM6SF1	53346	broad.mit.edu	37	chr15	83805312	83805312	+	Frame_Shift_Del	DEL	T	T	-													ccctgaagaagcaaaaatccTttttttagcattaaacatag							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:83805311_83805311CT>C	uc002bjp.3	+	9	1109	c.1000_1000CT>C	c.(1000-1002)cttfs	p.L334fs	TM6SF1_uc010bmq.3_Frame_Shift_Del_p.L303fs|TM6SF1_uc002bjq.3_3'UTR|TM6SF1_uc010bmr.3_Non-coding_Transcript|TM6SF1_uc002bjr.3_Frame_Shift_Del_p.L186fs	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	Homo sapiens transmembrane 6 superfamily member 1 (TM6SF1), transcript variant 1, mRNA.	334						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AGCAAAAATCCTTTTTTTAGC	0.368													-	83805312	T	-	83805312	7	5	16	1	0	1	0	1	0	0	0	0	15969	1609	56	0	1039	0	TM6SF1	15	83805312	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	80168	83805312	18726080	1164	13486											
ALPK3	57538	broad.mit.edu	37	chr15	85410563	85410563	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggggttgactggaagaTgactgatgtgcagattgcta	14	5	1	5			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:85410563T>A	uc002ble.2	+	13	5512	c.5345T>A	c.(5344-5346)ATG>AAG	p.M1782K	ALPK3_uc010upc.1_Missense_Mutation_p.M83K	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1782	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GACTGGAAGATGACTGATGTG	0.527													A	85410563	T	A	85410563	3	1	16	1	0	0	0	0	1	0	0	0	546	1464	51	5	5395	5	ALPK3	15	85410563	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	1605251	85410563	17120829	1165	13487											
PDE8A	5151	broad.mit.edu	37	chr15	85634360	85634360	+	Frame_Shift_Del	DEL	A	A	-													aggagaagtgcctataaatgAaaaaaaggctgacttgctcg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:85634360delA	uc002blh.2	+	8	989	c.800delA	c.(799-801)GAAfs	p.E267fs	PDE8A_uc002bli.2_Intron|PDE8A_uc010bnc.2_Frame_Shift_Del_p.E20fs|PDE8A_uc010bnd.2_Frame_Shift_Del_p.E20fs|PDE8A_uc002blj.2_Intron|PDE8A_uc002blk.2_Intron	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	267	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			CCTATAAATGAAAAAAAGGCT	0.388													-	85634360	A	-	85634360	7	5	16	1	0	1	0	1	0	0	0	0	11653	246	9	0	830	0	PDE8A	15	85634360	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	223797	85634360	16897032	1166	13488											
AKAP13	11214	broad.mit.edu	37	chr15	86189060	86189060	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttttcagaatgtgagaacTtcctggatgttggactgggc	12	7	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:86189060T>C	uc002blv.1	+	10	4419	c.4249T>C	c.(4249-4251)TTC>CTC	p.F1417L	AKAP13_uc002blt.1_Missense_Mutation_p.F1417L|AKAP13_uc002blu.1_Missense_Mutation_p.F1417L|AKAP13_uc010bnf.1_Missense_Mutation_p.F57L|AKAP13_uc010bne.1_Missense_Mutation_p.F70L	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	1417					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						ATGTGAGAACTTCCTGGATGT	0.348													C	86189060	T	C	86189060	3	2	16	1	0	0	0	0	1	0	0	0	449	1609	56	3	4283	3	AKAP13	15	86189060	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	554700	86189060	16342332	1167	13489											
FES	2242	broad.mit.edu	37	chr15	91428314	91428314	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgcagcccccagggccaCggggtcctgcagcaaatgca	13	15	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:91428314C>T	uc002bpv.2	+	2	135	c.39C>T	c.(37-39)CAC>CAT	p.H13H	FES_uc010uqj.1_Silent_p.H13H|FES_uc010uqk.1_Silent_p.H13H|FES_uc002bpw.2_RNA|FES_uc010bny.2_Silent_p.H13H|FES_uc002bpx.2_Silent_p.H13H|FES_uc002bpy.2_Silent_p.H13H	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	13	FCH.|Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCCAGGGCCACGGGGTCCTGC	0.617													T	91428314	C	T	91428314	2	4	16	1	0	0	0	0	0	0	0	1	5820	535	19	1		1	FES	15	91428314	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	5239254	91428314	11103078	1168	13490											
ADAMTS17	170691	broad.mit.edu	37	chr15	100695507	100695507	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcaagatgagtggtcatcGtcgtggttcatgcccaagct	13	10	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:100695507G>A	uc002bvv.1	-	9	1279	c.1200C>T	c.(1198-1200)GAC>GAT	p.D400D	ADAMTS17_uc002bvx.1_Silent_p.D157D	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	400	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AGTGGTCATCGTCGTGGTTCA	0.557													A	100695507	G	A	100695507	2	1	16	1	0	0	0	0	0	0	0	1	262	1136	40	1		1	ADAMTS17	15	100695507	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	9267193	100695507	1835885	1169	13491											
ADAMTS17	170691	broad.mit.edu	37	chr15	100821466	100821466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaggatgaacctctgggCggcctcggccccgtggtact	15	13	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:100821466C>T	uc002bvv.1	-	4	836	c.757G>A	c.(757-759)GCC>ACC	p.A253T	ADAMTS17_uc002bvx.1_Missense_Mutation_p.A10T	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	253	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AACCTCTGGGCGGCCTCGGCC	0.642													T	100821466	C	T	100821466	3	4	16	1	0	0	0	0	1	0	0	0	262	768	27	1	2606	1	ADAMTS17	15	100821466	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	125959	100821466	1709926	1170	13492											
LRRK1	79705	broad.mit.edu	37	chr15	101588759	101588759	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtcaccatttacagttttAcaggaaaccagagaaatcgc	7	9	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr15:101588759A>C	uc002bwr.2	+	22	3515	c.3196A>C	c.(3196-3198)ACA>CCA	p.T1066P	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_Intron	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1066					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTACAGTTTTACAGGAAACCA	0.423													C	101588759	A	C	101588759	3	2	16	1	0	0	0	0	1	0	0	0	9032	391	14	5	3278	5	LRRK1	15	101588759	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	767293	101588759	942633	1171	13493											
LUC7L	55692	broad.mit.edu	37	chr16	239997	239997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttcggtcccgggaagccCgacgatgtccccggctgtgg	14	15	0	0	rs146490197		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:239997C>T	uc002cgc.1	-	9	1055	c.944G>A	c.(943-945)CGG>CAG	p.R315Q	LUC7L_uc002cga.1_Missense_Mutation_p.R315Q|LUC7L_uc002cgd.1_RNA|LUC7L_uc002cge.1_Missense_Mutation_p.R315Q|LUC7L_uc002cgb.1_Missense_Mutation_p.R229Q	NM_201412	NP_958815	Q9NQ29	LUC7L_HUMAN	LUC7-like isoform b	315	Arg/Ser-rich.						metal ion binding			central_nervous_system(1)	1		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CCGGGAAGCCCGACGATGTCC	0.617													T	239997	C	T	239997	3	4	16	1	0	0	0	0	1	0	0	0	9082	652	23	1	183	1	LUC7L	16	239997	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08		239997	90114756	1172	13494											
CACNA1H	8912	broad.mit.edu	37	chr16	1260974	1260974	+	Splice_Site	DEL	G	G	-													gaccctgcggcctctgaggtGgggggctccccgtgggctcc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:1260973_1260973TG>T	uc002cks.3	+	21	4471	c.4223_splice	c.e21+2	p.R1408_splice	CACNA1H_uc002ckt.3_Splice_Site_p.R1408_splice|CACNA1H_uc002cku.3_Splice_Site_p.R114_splice|CACNA1H_uc010brj.3_Splice_Site_p.R114_splice|CACNA1H_uc002ckv.3_Splice_Site_p.R114_splice	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1408					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCCTCTGAGGTGGGGGGCTCC	0.697													-	1260974	G	-	1260974	8	5	16	1	0	1	0	1	0	0	1	0	2545	1363	47	0		0	CACNA1H	16	1260974	Splice_Site	DEL	G	TCGA-BR-4292-01A-01D-1126-08	1020977	1260974	89093779	1173	13495											
UBE2I	7329	broad.mit.edu	37	chr16	1370217	1370217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcacccgaatgtgtacccttCggggacagtgtgcctgtcca	11	13	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:1370217C>T	uc002clc.1	+	5	370	c.266C>T	c.(265-267)TCG>TTG	p.S89L	UBE2I_uc002cld.1_Missense_Mutation_p.S89L|UBE2I_uc002clf.1_Missense_Mutation_p.S89L|UBE2I_uc002clg.1_Missense_Mutation_p.S89L|UBE2I_uc002clh.1_Missense_Mutation_p.S89L|UBE2I_uc002cli.1_Missense_Mutation_p.S89L	NM_194261	NP_919237	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	89				VYPS -> GVPF (in Ref. 6; AAC50603).	cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|skin(1)	2		Hepatocellular(780;0.00369)				GTGTACCCTTCGGGGACAGTG	0.557													T	1370217	C	T	1370217	3	4	16	1	0	0	0	0	1	0	0	0	16856	893	31	1	280	1	UBE2I	16	1370217	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	109243	1370217	88984536	1174	13496											
GNPTG	84572	broad.mit.edu	37	chr16	1412640	1412640	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagttgctgaggacactttTtgaggatgctggctacttaa	12	6	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:1412640T>G	uc002clm.2	+	9	673	c.638T>G	c.(637-639)TTT>TGT	p.F213C		NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphotransferase, gamma	213						extracellular region|Golgi apparatus	protein binding			central_nervous_system(1)	1		Hepatocellular(780;0.0893)				AGGACACTTTTTGAGGATGCT	0.602													G	1412640	T	G	1412640	3	3	16	1	0	0	0	0	1	0	0	0	6546	1841	64	5	672	5	GNPTG	16	1412640	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	42423	1412640	88942113	1175	13497											
UNKL	64718	broad.mit.edu	37	chr16	1417261	1417263	+	In_Frame_Del	DEL	CTT	CTT	-													acctgtgcctccacctcctcCttcttctgcagcgccagctg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:1417261_1417263delCTT	uc010brn.1	-	8	1015_1017	c.997_999delAAG	c.(997-999)AAGdel	p.K333del	UNKL_uc002cln.2_In_Frame_Del_p.K125del|UNKL_uc002clo.2_In_Frame_Del_p.K122del|UNKL_uc002clp.2_In_Frame_Del_p.K125del			Q9H9P5	UNKL_HUMAN	SubName: Full=Putative ubiquitin-protein ligase;          EC=6.3.2.19; Flags: Fragment;	623						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding				0		Hepatocellular(780;0.0893)				CCACCTCCTCCTTCTTCTGCAGC	0.69													-	1417263	CTT	-	1417261	7	5	16	1	0	1	0	1	0	0	0	0	16998	680	24	0	331	0	UNKL	16	1417261	In_Frame_Del	DEL	CTT	TCGA-BR-4292-01A-01D-1126-08	4621	1417261	88937492	1176	13498											
IFT140	9742	broad.mit.edu	37	chr16	1574907	1574907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtactgcgcccaccaccGccacagggtcctgcgggcag	13	17	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:1574907G>A	uc002cmb.2	-	23	3237	c.2875C>T	c.(2875-2877)CGG>TGG	p.R959W	IFT140_uc002clz.2_Missense_Mutation_p.R572W	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	959	TPR 4.									ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)				GCCCACCACCGCCACAGGGTC	0.697													A	1574907	G	A	1574907	3	1	16	1	0	0	0	0	1	0	0	0	7556	1086	38	1	1549	1	IFT140	16	1574907	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	157646	1574907	88779846	1177	13499											
NUBP2	10101	broad.mit.edu	37	chr16	1837726	1837726	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggggggagctggactAcctggtggtggacacgcccc	18	12	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:1837726A>G	uc002cmw.3	+	4	472	c.383A>G	c.(382-384)TAC>TGC	p.Y128C	NUBP2_uc002cmx.3_5'UTR|NUBP2_uc010brx.2_Missense_Mutation_p.Y68C	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2 (MinD homolog, E.	128						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding				0						GAGCTGGACTACCTGGTGGTG	0.672													G	1837726	A	G	1837726	3	3	16	1	0	0	0	0	1	0	0	0	10716	391	14	3	397	3	NUBP2	16	1837726	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	262819	1837726	88517027	1178	13500											
SLC9A3R2	9351	broad.mit.edu	37	chr16	2086453	2086453	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatccgctctgtggacccGggctcacctgccgcccgctc	10	19	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:2086453G>A	uc002coi.2	+	3	662	c.543G>A	c.(541-543)CCG>CCA	p.P181P	SLC9A3R2_uc002coj.2_Silent_p.P181P|SLC9A3R2_uc002cok.2_Silent_p.P70P	NM_001130012	NP_001123484	Q15599	NHRF2_HUMAN	solute carrier family 9 isoform 3 regulator 2	181	PDZ 2.				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)	1						CTGTGGACCCGGGCTCACCTG	0.697													A	2086453	G	A	2086453	2	1	16	1	0	0	0	0	0	0	0	1	14715	1103	39	1		1	SLC9A3R2	16	2086453	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	248727	2086453	88268300	1179	13501											
PKD1	5310	broad.mit.edu	37	chr16	2166583	2166583	+	Frame_Shift_Del	DEL	G	G	-													ctgctgtgccagaggcgtcaGgggtccctgcaggtccccac							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:2166583delG	uc002cos.1	-	8	1878	c.1669delC	c.(1669-1671)CTGfs	p.L557fs	PKD1_uc002cot.1_Frame_Shift_Del_p.L557fs	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	557	Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						AGAGGCGTCAGGGGTCCCTGC	0.716													-	2166583	G	-	2166583	7	5	16	1	0	1	0	1	0	0	0	0	11963	991	35	0	11398	0	PKD1	16	2166583	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	80130	2166583	88188170	1180	13502											
DNASE1	1773	broad.mit.edu	37	chr16	3706167	3706167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggaacagctataaggagCgctacctgttcgtgtacagg	13	9	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:3706167C>T	uc002cvr.2	+	4	2408	c.301C>T	c.(301-303)CGC>TGC	p.R101C		NM_005223	NP_005214	P24855	DNAS1_HUMAN	deoxyribonuclease I precursor	101					apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity				0		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)	CTATAAGGAGCGCTACCTGTT	0.562								Direct_reversal_of_damage					T	3706167	C	T	3706167	3	4	16	1	0	0	0	0	1	0	0	0	4660	768	27	1	311	1	DNASE1	16	3706167	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1539584	3706167	86648586	1181	13503											
GLIS2	84662	broad.mit.edu	37	chr16	4384878	4384878	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcccctcggctccgggggggCcctgcacctgcctgcctcct	13	20	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:4384878C>G	uc002cwc.1	+	3	479	c.422C>G	c.(421-423)GCC>GGC	p.A141G		NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	141	Interaction with CTNND1 (By similarity).				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding				0						TCCGGGGGGGCCCTGCACCTG	0.662													G	4384878	C	G	4384878	3	3	16	1	0	0	0	0	1	0	0	0	6446	739	26	5	432	5	GLIS2	16	4384878	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	678711	4384878	85969875	1182	13504											
CORO7	79585	broad.mit.edu	37	chr16	4409582	4409582	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccaagggtccgccggccaGggcctcagcttcatatagga	13	13	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:4409582G>T	uc002cwh.3	-	22	2269	c.2149C>A	c.(2149-2151)CTG>ATG	p.L717M	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.L717M|CORO7_uc002cwg.3_Missense_Mutation_p.L497M|CORO7_uc010uxh.1_Missense_Mutation_p.L699M|CORO7_uc010uxi.1_Missense_Mutation_p.L632M|CORO7_uc002cwi.1_Missense_Mutation_p.L497M	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	717						cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						CCGCCGGCCAGGGCCTCAGCT	0.652											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	4409582	G	T	4409582	3	4	16	1	0	0	0	0	1	0	0	0	3759	991	35	5	656	5	CORO7	16	4409582	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	24704	4409582	85945171	1183	13505											
PPL	5493	broad.mit.edu	37	chr16	4933690	4933690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggatgactacgatggagcGccgcaggtggttctcccgct	15	11	1	1	rs140094738	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:4933690G>A	uc002cyd.1	-	22	5056	c.4966C>T	c.(4966-4968)CGC>TGC	p.R1656C		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1656	Plectin 1.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						ACGATGGAGCGCCGCAGGTGG	0.632													A	4933690	G	A	4933690	3	1	16	1	0	0	0	0	1	0	0	0	12334	1087	38	1	308	1	PPL	16	4933690	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	524108	4933690	85421063	1184	13506											
PPL	5493	broad.mit.edu	37	chr16	4935689	4935689	+	Frame_Shift_Del	DEL	C	C	-													tccttgaccacgtactcctgCcccccgtctctggtctcctg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:4935688_4935688GC>G	uc002cyd.1	-	21	3058	c.2968_2968GC>C	c.(2968-2970)cagfs	p.Q990fs		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	990					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACGTACTCCTGCCCCCCGTCT	0.667													-	4935689	C	-	4935689	7	5	16	1	0	1	0	1	0	0	0	0	12334	726	26	0	2307	0	PPL	16	4935689	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	1999	4935689	85419064	1185	13507											
ATF7IP2	80063	broad.mit.edu	37	chr16	10575765	10575765	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctgaattagtagacaaaAcccgagacacacttcctccc	5	14	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:10575765A>C	uc002czu.2	+	12	1935	c.1708A>C	c.(1708-1710)ACC>CCC	p.T570P	ATF7IP2_uc002czv.2_3'UTR|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Missense_Mutation_p.T114P|ATF7IP2_uc002czw.2_Missense_Mutation_p.T570P|ATF7IP2_uc010uyq.1_RNA	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						AGTAGACAAAACCCGAGACAC	0.458													C	10575765	A	C	10575765	3	2	16	1	0	0	0	0	1	0	0	0	1088	43	2	5	1746	5	ATF7IP2	16	10575765	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	5640076	10575765	79778988	1186	13508											
ZC3H7A	29066	broad.mit.edu	37	chr16	11868230	11868230	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgccagcactgcagatggCagagcgctctcttccacttg	10	13	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:11868230C>T	uc002dbk.2	-	8	963	c.765G>A	c.(763-765)CTG>CTA	p.L255L	ZC3H7A_uc002dbl.2_Silent_p.L255L|ZC3H7A_uc002dbm.1_Silent_p.L255L	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	255						nucleus	nucleic acid binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						CTGCAGATGGCAGAGCGCTCT	0.478													T	11868230	C	T	11868230	2	4	16	1	0	0	0	0	0	0	0	1	17569	697	25	2		2	ZC3H7A	16	11868230	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1292465	11868230	78486523	1187	13509											
ZC3H7A	29066	broad.mit.edu	37	chr16	11873222	11873222	+	Splice_Site	DEL	A	A	-													gagagcacgcaaatatacctAaaaaaaagaaagttaccact							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:11873221_11873221TA>T	uc002dbk.3	-	3	307	c.109_splice	c.e3-1	p.V37_splice	ZC3H7A_uc002dbl.3_Splice_Site_p.V37_splice|ZC3H7A_uc002dbm.2_Splice_Site_p.V37_splice	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	37						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CAAATATACCTAAAAAAAAGA	0.338													-	11873222	A	-	11873222	8	5	16	1	0	1	0	1	0	0	1	0	17569	377	13	0		0	ZC3H7A	16	11873222	Splice_Site	DEL	A	TCGA-BR-4292-01A-01D-1126-08	4992	11873222	78481531	1188	13510											
PARN	5073	broad.mit.edu	37	chr16	14540788	14540788	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attctttttaatttcttggcCtttttccttccctctgagag	5	10	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:14540788C>A	uc010uzd.1	-	23	1963	c.1821G>T	c.(1819-1821)AAG>AAT	p.K607N	PARN_uc010uzc.1_Missense_Mutation_p.K546N|PARN_uc010uze.1_Missense_Mutation_p.K561N|PARN_uc010uzf.1_Missense_Mutation_p.K432N	NM_002582	NP_002573	O95453	PARN_HUMAN	poly(A)-specific ribonuclease (deadenylation	607					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			ovary(2)	2						ATTTCTTGGCCTTTTTCCTTC	0.498													A	14540788	C	A	14540788	3	1	16	1	0	0	0	0	1	0	0	0	11453	680	24	5	106	5	PARN	16	14540788	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2667566	14540788	75813965	1189	13511											
C16orf62	57020	broad.mit.edu	37	chr16	19710946	19710946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcacctggcacagaggcaCggctgtgcagacaccaggac	14	13	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:19710946C>T	uc002dgn.1	+	30	2781	c.2769C>T	c.(2767-2769)CAC>CAT	p.H923H	C16orf62_uc002dgo.1_Silent_p.H830H|C16orf62_uc002dgp.1_Silent_p.H672H	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	923						integral to membrane				ovary(1)	1						CACAGAGGCACGGCTGTGCAG	0.597													T	19710946	C	T	19710946	2	4	16	1	0	0	0	0	0	0	0	1	1825	535	19	1		1	C16orf62	16	19710946	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	5170158	19710946	70643807	1190	13512											
PDILT	204474	broad.mit.edu	37	chr16	20373737	20373737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccctcacttgttgagagcCgctggggaacagcctgaaga	13	12	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:20373737C>T	uc002dhc.1	-	10	1628	c.1405G>A	c.(1405-1407)GGC>AGC	p.G469S		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	469					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1						TGTTGAGAGCCGCTGGGGAAC	0.488													T	20373737	C	T	20373737	3	4	16	1	0	0	0	0	1	0	0	0	11674	652	23	1	361	1	PDILT	16	20373737	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	662791	20373737	69981016	1191	13513											
DNAH3	55567	broad.mit.edu	37	chr16	21008625	21008625	+	Frame_Shift_Del	DEL	C	C	-													cagtaatgtcattccttcctCccccggggggccccatggct							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:21008624_21008624TC>T	uc010vbe.2	-	43	6582	c.6582_6582GA>A	c.(6580-6582)ggafs	p.G2194fs		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2194	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATTCCTTCCTCCCCCGGGGG	0.542													-	21008625	C	-	21008625	7	5	16	1	0	1	0	1	0	0	0	0	4603	855	30	0	5844	0	DNAH3	16	21008625	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	634888	21008625	69346128	1192	13514											
IGSF6	10261	broad.mit.edu	37	chr16	21663892	21663892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attggtttgcagatggcgagCgatgttgcttctgctcgcag	14	8	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:21663892C>T	uc002djg.1	-	1	81	c.28G>A	c.(28-30)GCT>ACT	p.A10T	uc002diq.3_Intron|METTL9_uc002dje.2_Intron|METTL9_uc002djf.2_Intron|IGSF6_uc010vbi.1_Missense_Mutation_p.A10T	NM_005849	NP_005840	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6 precursor	10					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0				GBM - Glioblastoma multiforme(48;0.066)		AGATGGCGAGCGATGTTGCTT	0.423													T	21663892	C	T	21663892	3	4	16	1	0	0	0	0	1	0	0	0	7603	768	27	1	721	1	IGSF6	16	21663892	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	655267	21663892	68690861	1193	13515											
TNRC6A	27327	broad.mit.edu	37	chr16	24817959	24817959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaacttgatccaaacctgtTggtgaagcagcagactccac	8	12	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:24817959T>C	uc002dmm.2	+	17	4508	c.4394T>C	c.(4393-4395)TTG>TCG	p.L1465S	TNRC6A_uc010bxs.2_Missense_Mutation_p.L1212S|TNRC6A_uc002dmn.2_Missense_Mutation_p.L1163S|TNRC6A_uc002dmo.2_Missense_Mutation_p.L1104S|TNRC6A_uc002dmp.2_Missense_Mutation_p.L66S|TNRC6A_uc002dmq.2_Missense_Mutation_p.L132S	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1465					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		CCAAACCTGTTGGTGAAGCAG	0.473													C	24817959	T	C	24817959	3	2	16	1	0	0	0	0	1	0	0	0	16337	1821	63	3	4460	3	TNRC6A	16	24817959	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	3154067	24817959	65536794	1194	13516											
ARHGAP17	55114	broad.mit.edu	37	chr16	24958802	24958802	+	Splice_Site	DEL	C	C	-													atacagagaaagatgacttaCccttcatttctggcccataa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:24958801_24958801AC>A	uc002dnb.3	-	14	1334	c.1241_splice	c.e14+1	p.G414_splice	ARHGAP17_uc002dna.3_Splice_Site_p.G141_splice|ARHGAP17_uc002dnc.3_Splice_Site_p.G414_splice|ARHGAP17_uc010vcf.2_Splice_Site_p.G235_splice	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	414	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AAGATGACTTACCCTTCATTT	0.403													-	24958802	C	-	24958802	8	5	16	1	0	1	0	1	0	0	1	0	867	521	18	0	1431	0	ARHGAP17	16	24958802	Splice_Site	DEL	C	TCGA-BR-4292-01A-01D-1126-08	140843	24958802	65395951	1195	13517											
GTF3C1	2975	broad.mit.edu	37	chr16	27475926	27475926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcactggcccagctggcgcGcctcttggtgccccgggggc	15	17	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:27475926G>A	uc002dov.1	-	34	5627	c.5587C>T	c.(5587-5589)CGC>TGC	p.R1863C	GTF3C1_uc002dou.2_Missense_Mutation_p.R1863C	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1863						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CAGCTGGCGCGCCTCTTGGTG	0.687													A	27475926	G	A	27475926	3	1	16	1	0	0	0	0	1	0	0	0	6872	1087	38	1	758	1	GTF3C1	16	27475926	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2517124	27475926	62878827	1196	13518											
ATXN2L	11273	broad.mit.edu	37	chr16	28846629	28846629	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagtcctacccacaccatgCcacacagctccatgcccacc	4	22	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:28846629C>G	uc002drc.2	+	20	2762	c.2594C>G	c.(2593-2595)GCC>GGC	p.A865G	uc010vct.1_Intron|ATXN2L_uc002drb.2_Missense_Mutation_p.A865G|ATXN2L_uc002dqy.2_Missense_Mutation_p.A865G|ATXN2L_uc002dra.2_Missense_Mutation_p.A865G|ATXN2L_uc002dqz.2_Missense_Mutation_p.A865G|ATXN2L_uc010vdb.1_Missense_Mutation_p.A871G|ATXN2L_uc002dre.2_Missense_Mutation_p.A865G|ATXN2L_uc002drf.2_Missense_Mutation_p.A274G|ATXN2L_uc002drg.2_Missense_Mutation_p.A147G	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	865						membrane				upper_aerodigestive_tract(1)|ovary(1)	2						CCACACCATGCCACACAGCTC	0.657													G	28846629	C	G	28846629	3	3	16	1	0	0	0	0	1	0	0	0	1212	739	26	5	2672	5	ATXN2L	16	28846629	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1370703	28846629	61508124	1197	13519											
SH2B1	25970	broad.mit.edu	37	chr16	28878130	28878130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcagtcggggagggggcGccttgaaggatggagcaggg	21	7	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:28878130G>A	uc002dri.2	+	4	1154	c.715G>A	c.(715-717)GCC>ACC	p.A239T	uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Missense_Mutation_p.A239T|SH2B1_uc002drk.2_Missense_Mutation_p.A239T|SH2B1_uc002drl.2_Missense_Mutation_p.A239T|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Missense_Mutation_p.A239T|SH2B1_uc002drm.2_Missense_Mutation_p.A239T	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	239	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2						GGGAGGGGGCGCCTTGAAGGA	0.642													A	28878130	G	A	28878130	3	1	16	1	0	0	0	0	1	0	0	0	14227	1087	38	1	717	1	SH2B1	16	28878130	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	31501	28878130	61476623	1198	13520											
RABEP2	79874	broad.mit.edu	37	chr16	28925566	28925566	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaacactcacctctgtctgCagctgctcccactgagtgtc	7	16	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:28925566C>T	uc002drq.2	-	5	933	c.885G>A	c.(883-885)CTG>CTA	p.L295L	uc010vct.1_Intron|RABEP2_uc010vdf.1_Silent_p.L224L|RABEP2_uc010byn.2_Silent_p.L295L|RABEP2_uc002drr.2_Silent_p.L295L	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	295	Potential.				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			ovary(1)|breast(1)|skin(1)	3						CCTCTGTCTGCAGCTGCTCCC	0.637													T	28925566	C	T	28925566	2	4	16	1	0	0	0	0	0	0	0	1	12962	697	25	2		2	RABEP2	16	28925566	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	47436	28925566	61429187	1199	13521											
NFATC2IP	84901	broad.mit.edu	37	chr16	28970351	28970351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccagaggccacagagaCgtcccaacagctccagctcc	8	17	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:28970351C>T	uc002dru.2	+	7	1046	c.1031C>T	c.(1030-1032)ACG>ATG	p.T344M	uc010vct.1_Intron|NFATC2IP_uc002drt.2_Missense_Mutation_p.T65M|NFATC2IP_uc002drv.2_Missense_Mutation_p.T63M|NFATC2IP_uc010vdh.1_Missense_Mutation_p.T52M	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells,	344						cytoplasm|nucleus				ovary(1)	1						GCCACAGAGACGTCCCAACAG	0.592													T	28970351	C	T	28970351	3	4	16	1	0	0	0	0	1	0	0	0	10363	536	19	1	1057	1	NFATC2IP	16	28970351	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	44785	28970351	61384402	1200	13522											
ZNF48	197407	broad.mit.edu	37	chr16	30409310	30409310	+	Frame_Shift_Del	DEL	C	C	-													ggacacaccggggggagcagCccccccgaccagtggtgccc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:30409310delC	uc002dya.1	+	2	798	c.739delC	c.(739-741)CCCfs	p.P247fs	ZNF48_uc002dxz.1_Frame_Shift_Del_p.P124fs	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGGGGAGCAGCCCCCCCGACC	0.637													-	30409310	C	-	30409310	7	5	16	1	0	1	0	1	0	0	0	0	17931	739	26	0	745	0	ZNF48	16	30409310	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	1438959	30409310	59945443	1201	13523											
ITGAL	3683	broad.mit.edu	37	chr16	30507880	30507880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgagagccagatgatcGtgctgaggtgagatgggtct	18	6	1	5			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:30507880G>A	uc002dyi.3	+	15	2001	c.1825G>A	c.(1825-1827)GTG>ATG	p.V609M	ITGAL_uc002dyj.3_Missense_Mutation_p.V526M|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	609	FG-GAP 7.|Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	CCAGATGATCGTGCTGAGGTG	0.453													A	30507880	G	A	30507880	3	1	16	1	0	0	0	0	1	0	0	0	7886	1145	40	1	1883	1	ITGAL	16	30507880	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	98570	30507880	59846873	1202	13524											
ZNF689	115509	broad.mit.edu	37	chr16	30616641	30616641	+	Frame_Shift_Del	DEL	G	G	-													cagccgcagtcagggcagatGgggcccccggacgtctgcct							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:30616641delG	uc002dyx.2	-	3	767	c.447delC	c.(445-447)CCCfs	p.P149fs	ZNF689_uc010bzy.2_5'UTR	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	zinc finger protein HIT-39	149	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			CAGGGCAGATGGGGCCCCCGG	0.607													-	30616641	G	-	30616641	7	5	16	1	0	1	0	1	0	0	0	0	18091	1335	47	0	1059	0	ZNF689	16	30616641	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	108761	30616641	59738112	1203	13525											
SRCAP	10847	broad.mit.edu	37	chr16	30732518	30732518	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtctgcagtgttgccaTcccccctgggggtcctgagt	13	12	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:30732518T>C	uc002dze.1	+	21	3647	c.3262T>C	c.(3262-3264)TCC>CCC	p.S1088P	SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Missense_Mutation_p.S945P|SRCAP_uc010bzz.1_Missense_Mutation_p.S658P	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1088	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			AGTGTTGCCATCCCCCCTGGG	0.592													C	30732518	T	C	30732518	3	2	16	1	0	0	0	0	1	0	0	0	15134	1435	50	3	3336	3	SRCAP	16	30732518	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	115877	30732518	59622235	1204	13526											
SRCAP	10847	broad.mit.edu	37	chr16	30744953	30744953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggttcaatgcagacaaaCgcatattctgcttcatcctt	6	11	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:30744953C>T	uc002dze.1	+	29	6713	c.6328C>T	c.(6328-6330)CGC>TGC	p.R2110C	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R1905C	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2110	Helicase C-terminal.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			TGCAGACAAACGCATATTCTG	0.478													T	30744953	C	T	30744953	3	4	16	1	0	0	0	0	1	0	0	0	15134	536	19	1	6434	1	SRCAP	16	30744953	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	12435	30744953	59609800	1205	13527											
ZNF646	9726	broad.mit.edu	37	chr16	31088883	31088883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctaagcagctgttcaatgCggctgccctcaaaaaccatg	8	12	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:31088883C>T	uc002eap.2	+	2	1527	c.1238C>T	c.(1237-1239)GCG>GTG	p.A413V		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	413	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						CTGTTCAATGCGGCTGCCCTC	0.587													T	31088883	C	T	31088883	3	4	16	1	0	0	0	0	1	0	0	0	18059	768	27	1	1240	1	ZNF646	16	31088883	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	343930	31088883	59265870	1206	13528											
ITGAX	3687	broad.mit.edu	37	chr16	31371765	31371765	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggctgatgcagcaggcaTcatccgctatgcaattgggg	13	10	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:31371765T>C	uc002ebu.1	+	8	909	c.842T>C	c.(841-843)ATC>ACC	p.I281T	ITGAX_uc002ebt.2_Missense_Mutation_p.I281T|ITGAX_uc010vfk.1_5'Flank	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	281	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCAGCAGGCATCATCCGCTAT	0.502													C	31371765	T	C	31371765	3	2	16	1	0	0	0	0	1	0	0	0	7889	1435	50	3	872	3	ITGAX	16	31371765	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	282882	31371765	58982988	1207	13529											
ITGAX	3687	broad.mit.edu	37	chr16	31391664	31391664	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggaggagctggatttcacCctgaagggcaacctcagctt	12	11	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:31391664C>A	uc002ebu.1	+	27	3205	c.3138C>A	c.(3136-3138)ACC>ACA	p.T1046T	ITGAX_uc002ebt.2_Silent_p.T1046T	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	1046	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGGATTTCACCCTGAAGGGCA	0.632													A	31391664	C	A	31391664	2	1	16	1	0	0	0	0	0	0	0	1	7889	610	22	5		5	ITGAX	16	31391664	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	19899	31391664	58963089	1208	13530											
ORC6L	23594	broad.mit.edu	37	chr16	46731427	46731427	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagatgaagatctgacacAggattatgaagaatggaaaa	11	3	1	6			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:46731427A>G	uc002eeh.2	+	7	749	c.689A>G	c.(688-690)CAG>CGG	p.Q230R		NM_014321	NP_055136	Q9Y5N6	ORC6_HUMAN	origin recognition complex subunit 6	230					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding				0		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GATCTGACACAGGATTATGAA	0.363													G	46731427	A	G	46731427	3	3	16	1	0	0	0	0	1	0	0	0	11266	188	7	3	715	3	ORC6L	16	46731427	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	15339763	46731427	43623326	1209	13531											
NETO2	81831	broad.mit.edu	37	chr16	47120148	47120149	+	Frame_Shift_Ins	INS	-	-	T													aaactcacctttacaatgatINStttcatcccaagggtatgca							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:47120147_47120148A>AT	uc002eer.2	-	7	1399_1400	c.986_987T>AT	c.(985-987)aatfs	p.N329fs	NETO2_uc002eeq.2_Intron|NETO2_uc010vgf.2_Frame_Shift_Ins_p.N322fs	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 2 (NETO2), transcript variant 1, mRNA.	329	LDL-receptor class A.					integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CTTTACAATGATTTTCATCCCA	0.371										HNSCC(25;0.065)			T	47120149	-	T	47120148	7	5	16	1	0	1	1	0	0	0	0	0	10340	1493	52	0	599	0	NETO2	16	47120148	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	388721	47120148	43234605	1210	13532											
ABCC12	94160	broad.mit.edu	37	chr16	48119514	48119514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttcttacctttgaattaCggagaagagctcgggccaca	10	9	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:48119514C>T	uc002efc.1	-	27	4164	c.3818G>A	c.(3817-3819)CGT>CAT	p.R1273H	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	1273	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				CTTTGAATTACGGAGAAGAGC	0.453													T	48119514	C	T	48119514	3	4	16	1	0	0	0	0	1	0	0	0	52	536	19	1	273	1	ABCC12	16	48119514	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	999366	48119514	42235239	1211	13533											
ABCC12	94160	broad.mit.edu	37	chr16	48120729	48120729	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaagggatccaagttgtAcctgcaatgaaggagaggag	13	7	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:48120729A>G	uc002efc.1	-	26	3983	c.3637T>C	c.(3637-3639)TAC>CAC	p.Y1213H	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_Intron|ABCC12_uc002efa.1_Intron|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_Intron	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	1213	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				TCCAAGTTGTACCTGCAATGA	0.532													G	48120729	A	G	48120729	3	3	16	1	0	0	0	0	1	0	0	0	52	405	14	3	458	3	ABCC12	16	48120729	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	1215	48120729	42234024	1212	13534											
CBLN1	869	broad.mit.edu	37	chr16	49315194	49315194	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgatggcagagaaagccacCttggcgctgccagagcgcac	13	13	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:49315194C>A	uc002efq.2	-	1	522	c.183G>T	c.(181-183)AAG>AAT	p.K61N		NM_004352	NP_004343	P23435	CBLN1_HUMAN	cerebellin 1 precursor	61	C1q.				nervous system development|synaptic transmission	cell junction|extracellular region|synapse					0		all_cancers(37;0.0766)|all_lung(18;0.24)				AGAAAGCCACCTTGGCGCTGC	0.617													A	49315194	C	A	49315194	3	1	16	1	0	0	0	0	1	0	0	0	2704	680	24	5	410	5	CBLN1	16	49315194	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1194465	49315194	41039559	1213	13535											
CYLD	1540	broad.mit.edu	37	chr16	50815288	50815288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtttgcatcattgcagccGgtttccaatcagattgagcg	11	9	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:50815288G>A	uc002egp.1	+	10	2065	c.1650G>A	c.(1648-1650)CCG>CCA	p.P550P	CYLD_uc002ego.2_Silent_p.P547P|CYLD_uc010cbs.1_Silent_p.P547P|CYLD_uc002egq.1_Silent_p.P547P|CYLD_uc002egr.1_Silent_p.P547P|CYLD_uc002egs.1_Silent_p.P547P	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	550	Interaction with TRIP.|Interaction with IKBKG/NEMO.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				CATTGCAGCCGGTTTCCAATC	0.438			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial				A	50815288	G	A	50815288	2	1	16	1	0	0	0	0	0	0	0	1	4143	1103	39	1		1	CYLD	16	50815288	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1500094	50815288	39539465	1214	13536											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53682940	53682940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaaagcctttgccctttctCgataaagtcgaattgcttga	7	11	1	1	rs142349647	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:53682940C>T	uc002ehp.2	-	16	2304	c.2240G>A	c.(2239-2241)CGA>CAA	p.R747Q	RPGRIP1L_uc002eho.3_Missense_Mutation_p.R747Q|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.R747Q|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.R747Q|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R747Q	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	747					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				TGCCCTTTCTCGATAAAGTCG	0.408													T	53682940	C	T	53682940	3	4	16	1	0	0	0	0	1	0	0	0	13550	884	31	1	1755	1	RPGRIP1L	16	53682940	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2867652	53682940	36671813	1215	13537											
IRX3	79191	broad.mit.edu	37	chr16	54318212	54318212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttttctccacttccaagGcactacagcgatctaaggga	7	12	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:54318212G>A	uc002eht.1	-	3	1813	c.1397C>T	c.(1396-1398)GCC>GTC	p.A466V		NM_024336	NP_077312	P78415	IRX3_HUMAN	iroquois homeobox 3	466					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CACTTCCAAGGCACTACAGCG	0.622													A	54318212	G	A	54318212	3	1	16	1	0	0	0	0	1	0	0	0	7845	1203	42	2	116	2	IRX3	16	54318212	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	635272	54318212	36036541	1216	13538											
NLRC5	84166	broad.mit.edu	37	chr16	57060011	57060011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcagcgcccagccatcgCgggagggggccctggtggag	17	13	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:57060011C>T	uc002ekk.1	+	6	1381	c.1156C>T	c.(1156-1158)CGG>TGG	p.R386W	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.R191W|NLRC5_uc002ekl.2_Missense_Mutation_p.R191W|NLRC5_uc002ekm.2_Missense_Mutation_p.R191W|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	386	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				CCAGCCATCGCGGGAGGGGGC	0.552													T	57060011	C	T	57060011	3	4	16	1	0	0	0	0	1	0	0	0	10470	759	27	1	1170	1	NLRC5	16	57060011	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2741799	57060011	33294742	1217	13539											
NLRC5	84166	broad.mit.edu	37	chr16	57060522	57060522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggaccaaagctagactggGcctctcagaccacctcccca	9	17	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:57060522G>A	uc002ekk.1	+	6	1892	c.1667G>A	c.(1666-1668)GGC>GAC	p.G556D	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.G361D|NLRC5_uc002ekl.2_Missense_Mutation_p.G361D|NLRC5_uc002ekm.2_Missense_Mutation_p.G361D|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	556					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				GCTAGACTGGGCCTCTCAGAC	0.622													A	57060522	G	A	57060522	3	1	16	1	0	0	0	0	1	0	0	0	10470	1203	42	2	1681	2	NLRC5	16	57060522	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	511	57060522	33294231	1218	13540											
CPNE2	221184	broad.mit.edu	37	chr16	57181521	57181521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgccccaacaagttgtgcAgtatttcaagcataaaaacc	7	11	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:57181521A>G	uc002eks.1	+	16	1827	c.1598A>G	c.(1597-1599)CAG>CGG	p.Q533R	CPNE2_uc010cct.1_Missense_Mutation_p.Q559R|CPNE2_uc010ccu.1_Missense_Mutation_p.Q533R|CPNE2_uc002ekt.1_3'UTR	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN	copine II	533										central_nervous_system(1)|skin(1)	2		all_neural(199;0.224)				CAAGTTGTGCAGTATTTCAAG	0.602													G	57181521	A	G	57181521	3	3	16	1	0	0	0	0	1	0	0	0	3812	188	7	3	1656	3	CPNE2	16	57181521	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	120999	57181521	33173232	1219	13541											
CCDC135	84229	broad.mit.edu	37	chr16	57760011	57760011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggttcttccgcaacccagCgaagcccgcggaggaggacg	15	14	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:57760011C>T	uc002emi.2	+	13	1879	c.1790C>T	c.(1789-1791)GCG>GTG	p.A597V	CCDC135_uc002emj.2_Missense_Mutation_p.A597V|CCDC135_uc002emk.2_Missense_Mutation_p.A532V	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	597						cytoplasm				central_nervous_system(1)	1						CGCAACCCAGCGAAGCCCGCG	0.607													T	57760011	C	T	57760011	3	4	16	1	0	0	0	0	1	0	0	0	2769	768	27	1	1836	1	CCDC135	16	57760011	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	578490	57760011	32594742	1220	13542											
PRSS54	221191	broad.mit.edu	37	chr16	58324964	58324964	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcagcgacaccacccaCgggaactccatgctgctgac	9	17	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:58324964C>T	uc002enf.2	-	4	557	c.162G>A	c.(160-162)CCG>CCA	p.P54P	PRSS54_uc002eng.2_Silent_p.P54P|PRSS54_uc010vie.1_Intron	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	54	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						ACACCACCCACGGGAACTCCA	0.607													T	58324964	C	T	58324964	2	4	16	1	0	0	0	0	0	0	0	1	12633	523	19	1		1	PRSS54	16	58324964	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	564953	58324964	32029789	1221	13543											
CNOT1	23019	broad.mit.edu	37	chr16	58555109	58555110	+	In_Frame_Ins	INS	-	-	TAC													tcgatttctggggcacagtgINStacaaattcatggttccaga							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:58555109_58555110insTAC	uc002env.2	-	48	7322_7323	c.7029_7030insGTA	c.(7027-7032)insGTA	p.2343_2344insV	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_In_Frame_Ins_p.2338_2339insV|CNOT1_uc002ent.2_In_Frame_Ins_p.281_282insV|CNOT1_uc010vik.1_In_Frame_Ins_p.1300_1301insV	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2343_2344					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGGGCACAGTGTACAAATTCAT	0.401													TAC	58555110	-	TAC	58555109	7	5	16	1	0	1	1	0	0	0	0	0	3617	1377	48	0	108	0	CNOT1	16	58555109	In_Frame_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	230145	58555109	31799644	1222	13544	42	2									
CNOT1	23019	broad.mit.edu	37	chr16	58555110	58555111	+	In_Frame_Ins	INS	-	-	TAC													cgatttctggggcacagtgtINSacaaattcatggttccagaa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:58555109_58555110G>GTAC	uc002env.3	-	47	7322_7323	c.7029_7030C>GTAC	c.(7027-7032)gtacac>gtGTACac	p.H2344Y	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_In_Frame_Ins_p.H2339Y|CNOT1_uc002ent.3_In_Frame_Ins_p.H282Y|CNOT1_uc010vik.2_In_Frame_Ins_p.H1301Y	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	2344					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGGGCACAGTGTACAAATTCAT	0.401													TAC	58555111	-	TAC	58555110	7	5	16	1	0	1	1	0	0	0	0	0	3617	1625	57	0	109	0	CNOT1	16	58555110	In_Frame_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1	58555110	31799643	1223	13545	42	2									
CNOT1	23019	broad.mit.edu	37	chr16	58581500	58581500	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgggtttgtttttagctaaTgtgatcattcctagccaatg	9	6	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:58581500T>C	uc002env.2	-	26	3902	c.3609A>G	c.(3607-3609)ACA>ACG	p.T1203T	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.T1198T|CNOT1_uc002enx.2_Silent_p.T1203T|CNOT1_uc010vik.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1203					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTTTAGCTAATGTGATCATTC	0.378													C	58581500	T	C	58581500	2	2	16	1	0	0	0	0	0	0	0	1	3617	1451	51	3		3	CNOT1	16	58581500	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	26390	58581500	31773253	1224	13546											
CNOT1	23019	broad.mit.edu	37	chr16	58581512	58581512	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagctaatgtgatcattccTagccaatgtcccaagttctt	6	10	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:58581512T>C	uc002env.2	-	26	3890	c.3597A>G	c.(3595-3597)CTA>CTG	p.L1199L	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.L1194L|CNOT1_uc002enx.2_Silent_p.L1199L|CNOT1_uc010vik.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1199					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGATCATTCCTAGCCAATGTC	0.368													C	58581512	T	C	58581512	2	2	16	1	0	0	0	0	0	0	0	1	3617	1509	53	3		3	CNOT1	16	58581512	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	12	58581512	31773241	1225	13547											
CDH5	1003	broad.mit.edu	37	chr16	66436800	66436800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaagccaccgaggcacGcgcctggggcacacggaggg	17	13	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:66436800G>A	uc002eom.3	+	12	2239	c.2083G>A	c.(2083-2085)GCG>ACG	p.A695T		NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	695	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		ACCGAGGCACGCGCCTGGGGC	0.572													A	66436800	G	A	66436800	3	1	16	1	0	0	0	0	1	0	0	0	3113	1087	38	1	2125	1	CDH5	16	66436800	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	7855288	66436800	23917953	1226	13548											
NAE1	8883	broad.mit.edu	37	chr16	66847501	66847501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatatttgcctgaatctgCaatcatatcaggaattgtgc	7	7	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:66847501C>T	uc002eqf.2	-	13	1077	c.1000G>A	c.(1000-1002)GCA>ACA	p.A334T	NAE1_uc002eqe.2_Missense_Mutation_p.A328T|NAE1_uc002eqg.2_Missense_Mutation_p.A245T|NAE1_uc010cdv.2_Missense_Mutation_p.A337T	NM_003905	NP_003896	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1 isoform a	334	Interaction with UBA3.				apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	CCTGAATCTGCAATCATATCA	0.343													T	66847501	C	T	66847501	3	4	16	1	0	0	0	0	1	0	0	0	10139	710	25	2	636	2	NAE1	16	66847501	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	410701	66847501	23507252	1227	13549											
FHOD1	29109	broad.mit.edu	37	chr16	67268086	67268086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgcaaggcttcgctggGcccggagcaggacacagggg	18	11	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:67268086G>A	uc002esl.2	-	13	1632	c.1520C>T	c.(1519-1521)GCC>GTC	p.A507V	FHOD1_uc010ced.2_Missense_Mutation_p.A314V|FHOD1_uc010vjh.1_Missense_Mutation_p.A167V	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	507	FH1.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GCTTCGCTGGGCCCGGAGCAG	0.647													A	67268086	G	A	67268086	3	1	16	1	0	0	0	0	1	0	0	0	5882	1203	42	2	2014	2	FHOD1	16	67268086	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	420585	67268086	23086667	1228	13550											
LRRC36	55282	broad.mit.edu	37	chr16	67397608	67397608	+	Frame_Shift_Del	DEL	G	G	-													aaattagacaccttcccactGgggacacaggtaatgtattc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:67397607_67397607TG>T	uc002esv.3	+	5	711	c.692_692TG>T	c.(691-693)ctgfs	p.L231fs	LRRC36_uc002esw.3_Non-coding_Transcript|LRRC36_uc010ceh.3_Frame_Shift_Del_p.L110fs|LRRC36_uc002esx.3_Frame_Shift_Del_p.L110fs|LRRC36_uc010vjk.2_Frame_Shift_Del_p.L110fs|LRRC36_uc010vjl.2_5'UTR	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA.	231										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		ACCTTCCCACTGGGGACACAG	0.418													-	67397608	G	-	67397608	7	5	16	1	0	1	0	1	0	0	0	0	8990	1335	47	0	743	0	LRRC36	16	67397608	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	129522	67397608	22957145	1229	13551											
GFOD2	81577	broad.mit.edu	37	chr16	67719395	67719395	+	Frame_Shift_Del	DEL	G	G	-													atatctgccgggtgagtggaGgggggatgctgatgcacacc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:67719395delG	uc002eub.2	-	2	519	c.224delC	c.(223-225)CCTfs	p.P75fs	GFOD2_uc002euc.2_Intron|GFOD2_uc010cen.2_Frame_Shift_Del_p.P75fs	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain	75						proteinaceous extracellular matrix	binding|oxidoreductase activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		GGTGAGTGGAGGGGGGATGCT	0.582													-	67719395	G	-	67719395	7	5	16	1	0	1	0	1	0	0	0	0	6344	1000	35	0	941	0	GFOD2	16	67719395	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	321787	67719395	22635358	1230	13552											
CDH1	999	broad.mit.edu	37	chr16	68835713	68835713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatccatttcttggtctacGcctgggactccacctacaga	8	13	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:68835713G>A	uc002ewg.1	+	3	428	c.304G>A	c.(304-306)GCC>ACC	p.A102T	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.A102T	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	102					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CTTGGTCTACGCCTGGGACTC	0.512			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				A	68835713	G	A	68835713	3	1	16	1	0	0	0	0	1	0	0	0	3095	1087	38	1	314	1	CDH1	16	68835713	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1116318	68835713	21519040	1231	13553											
ZNF19	7567	broad.mit.edu	37	chr16	71509780	71509780	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcattatcattaaaggctcGcccacactcctcacactgat	5	14	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:71509780G>A	uc010cgc.1	-	6	1176	c.670C>T	c.(670-672)CGA>TGA	p.R224*	ZNF23_uc002fai.2_Intron|ZNF19_uc002fak.1_Nonsense_Mutation_p.R212*|ZNF19_uc002fal.1_Nonsense_Mutation_p.R212*|ZNF19_uc002fam.1_Nonsense_Mutation_p.R224*	NM_006961	NP_008892	P17023	ZNF19_HUMAN	zinc finger protein 19	224	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TTAAAGGCTCGCCCACACTCC	0.458													A	71509780	G	A	71509780	4	1	16	1	0	0	0	0	0	1	0	0	17752	1095	38	1	710	1	ZNF19	16	71509780	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2674067	71509780	18844973	1232	13554											
ZFHX3	463	broad.mit.edu	37	chr16	72830135	72830135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcatctgtgatcctggtgCgaggcctcttgttctgctgc	12	11	4	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:72830135C>T	uc002fck.2	-	9	7119	c.6446G>A	c.(6445-6447)CGC>CAC	p.R2149H	ZFHX3_uc002fcl.2_Missense_Mutation_p.R1235H	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	2149	Homeobox 1.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GATCCTGGTGCGAGGCCTCTT	0.547													T	72830135	C	T	72830135	3	4	16	1	0	0	0	0	1	0	0	0	17631	768	27	1	4673	1	ZFHX3	16	72830135	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1320355	72830135	17524618	1233	13555											
ZFHX3	463	broad.mit.edu	37	chr16	72984509	72984509	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacacttgagcctccactcGttggccttgccgccctcctt	7	18	0	1	rs137984545	by1000genomes	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:72984509G>A	uc002fck.2	-	3	3748	c.3075C>T	c.(3073-3075)AAC>AAT	p.N1025N	ZFHX3_uc002fcl.2_Silent_p.N111N	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1025					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GCCTCCACTCGTTGGCCTTGC	0.597													A	72984509	G	A	72984509	2	1	16	1	0	0	0	0	0	0	0	1	17631	1136	40	1		1	ZFHX3	16	72984509	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	154374	72984509	17370244	1234	13556											
ZFHX3	463	broad.mit.edu	37	chr16	72993351	72993351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcgcacgtcaaacacgcGgaagctgtgcaggacggggc	16	11	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:72993351G>A	uc002fck.2	-	2	1367	c.694C>T	c.(694-696)CGC>TGC	p.R232C	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	232					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				TCAAACACGCGGAAGCTGTGC	0.557													A	72993351	G	A	72993351	3	1	16	1	0	0	0	0	1	0	0	0	17631	1116	39	1	10453	1	ZFHX3	16	72993351	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	8842	72993351	17361402	1235	13557											
CHST5	23563	broad.mit.edu	37	chr16	75563418	75563418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgcaccaggcggtagcGgccgcgcaggaagggtggcg	20	11	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:75563418G>A	uc002fei.2	-	3	2260	c.865C>T	c.(865-867)CGC>TGC	p.R289C	CHST5_uc002fej.1_Missense_Mutation_p.R295C	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	289	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						AGGCGGTAGCGGCCGCGCAGG	0.716													A	75563418	G	A	75563418	3	1	16	1	0	0	0	0	1	0	0	0	3407	1116	39	1	374	1	CHST5	16	75563418	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2570067	75563418	14791335	1236	13558											
KARS	3735	broad.mit.edu	37	chr16	75669691	75669691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagtccaagtatctctggcGataccttgtttcctaaacca	6	12	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:75669691G>A	uc002feq.2	-	6	730	c.682C>T	c.(682-684)CGC>TGC	p.R228C	KARS_uc002fer.2_Missense_Mutation_p.R256C|KARS_uc002fes.2_Missense_Mutation_p.R72C|KARS_uc010cgz.2_Missense_Mutation_p.R72C	NM_005548	NP_005539	Q15046	SYK_HUMAN	lysyl-tRNA synthetase isoform 2	228					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			ovary(2)	2					L-Lysine(DB00123)	TATCTCTGGCGATACCTTGTT	0.393													A	75669691	G	A	75669691	3	1	16	1	0	0	0	0	1	0	0	0	7980	1058	37	1	1147	1	KARS	16	75669691	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	106273	75669691	14685062	1237	13559											
TERF2IP	54386	broad.mit.edu	37	chr16	75690320	75690320	+	Frame_Shift_Del	DEL	A	A	-													acagttacacaggccttcctAaaaaatagtggtgagctgga							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:75690320delA	uc002fet.1	+	3	1108	c.1011delA	c.(1009-1011)CTAfs	p.L337fs		NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting	337					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1						AGGCCTTCCTAAAAAATAGTG	0.443													-	75690320	A	-	75690320	7	5	16	1	0	1	0	1	0	0	0	0	15760	349	13	0	1021	0	TERF2IP	16	75690320	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	20629	75690320	14664433	1238	13560											
ADAMTS18	170692	broad.mit.edu	37	chr16	77369762	77369762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtggatgggccggggccCgagctccccaaactttacgc	14	15	0	0	rs149189203	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:77369762C>T	uc002ffc.3	-	12	2169	c.1750G>A	c.(1750-1752)GGG>AGG	p.G584R	ADAMTS18_uc010chc.1_Missense_Mutation_p.G172R|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G280R	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	584					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						GGCCGGGGCCCGAGCTCCCCA	0.587													T	77369762	C	T	77369762	3	4	16	1	0	0	0	0	1	0	0	0	263	652	23	1	1963	1	ADAMTS18	16	77369762	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1679442	77369762	12984991	1239	13561											
OSGIN1	29948	broad.mit.edu	37	chr16	83994222	83994222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccgatcccaaagccccGtggccctgctctttgatgcc	10	16	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:83994222G>A	uc002fha.2	+	5	885	c.502G>A	c.(502-504)GTG>ATG	p.V168M	OSGIN1_uc002fhb.2_Missense_Mutation_p.V85M|OSGIN1_uc002fhc.2_Missense_Mutation_p.V85M	NM_013370	NP_037502	Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	168					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity				0						CCAAAGCCCCGTGGCCCTGCT	0.632													A	83994222	G	A	83994222	3	1	16	1	0	0	0	0	1	0	0	0	11289	1145	40	1	520	1	OSGIN1	16	83994222	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	6624460	83994222	6360531	1240	13562											
MBTPS1	8720	broad.mit.edu	37	chr16	84088130	84088130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgggcttcctccgcttcGgcctgctcttggccttgttg	11	16	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:84088130G>A	uc002fhi.2	-	23	3585	c.3083C>T	c.(3082-3084)CCG>CTG	p.P1028L	MBTPS1_uc002fhh.2_Missense_Mutation_p.P532L	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	1028	Arg/Lys/Pro-rich (basic).|Cytoplasmic (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2						CCTCCGCTTCGGCCTGCTCTT	0.617													A	84088130	G	A	84088130	3	1	16	1	0	0	0	0	1	0	0	0	9361	1116	39	1	79	1	MBTPS1	16	84088130	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	93908	84088130	6266623	1241	13563											
MBTPS1	8720	broad.mit.edu	37	chr16	84100196	84100196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgggatgttagctcctcCggtatccggcatccaccact	10	14	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:84100196C>T	uc002fhi.2	-	17	2753	c.2251G>A	c.(2251-2253)GGA>AGA	p.G751R	MBTPS1_uc002fhh.2_Missense_Mutation_p.G255R	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	751	Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2						TTAGCTCCTCCGGTATCCGGC	0.517													T	84100196	C	T	84100196	3	4	16	1	0	0	0	0	1	0	0	0	9361	661	23	1	935	1	MBTPS1	16	84100196	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	12066	84100196	6254557	1242	13564											
KIAA0182	23199	broad.mit.edu	37	chr16	85682290	85682291	+	Frame_Shift_Ins	INS	-	-	C													ggccacagcgtgcccagcacINScccccccgtggtgaccatcg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:85682289_85682290A>AC	uc002fix.3	+	2	432_433	c.358_359A>AC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688													C	85682291	-	C	85682290	7	5	16	1	0	1	1	0	0	0	0	0	8159	507	18	0	369	0	KIAA0182	16	85682290	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1582094	85682290	4672463	1243	13565											
FOXF1	2294	broad.mit.edu	37	chr16	86544392	86544392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaagcgcctgacgctgagcGagatctaccagttcctgcag	11	14	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:86544392G>A	uc002fjl.2	+	1	260	c.217G>A	c.(217-219)GAG>AAG	p.E73K	uc002fjk.1_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	73	Fork-head.				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0						GACGCTGAGCGAGATCTACCA	0.627													A	86544392	G	A	86544392	3	1	16	1	0	0	0	0	1	0	0	0	6005	1059	37	1	219	1	FOXF1	16	86544392	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	862102	86544392	3810361	1244	13566											
ANKRD11	29123	broad.mit.edu	37	chr16	89351372	89351372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgggcggcagagctcccGtgagacgaggtggaggaggc	19	9	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr16:89351372G>A	uc002fmx.1	-	9	2039	c.1578C>T	c.(1576-1578)CAC>CAT	p.H526H	ANKRD11_uc002fmy.1_Silent_p.H526H|ANKRD11_uc002fnc.1_Silent_p.H526H|ANKRD11_uc002fnb.1_Silent_p.H483H	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	526	Ser-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CAGAGCTCCCGTGAGACGAGG	0.627													A	89351372	G	A	89351372	2	1	16	1	0	0	0	0	0	0	0	1	639	1136	40	1		1	ANKRD11	16	89351372	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2806980	89351372	1003381	1245	13567											
PAFAH1B1	5048	broad.mit.edu	37	chr17	2570437	2570437	+	Frame_Shift_Del	DEL	T	T	-													gagtccagtcactcgagtcaTtttccatcctgtgttcagtg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:2570436_2570436AT>A	uc002fuw.4	+	4	911	c.343_343AT>A	c.(343-345)attfs	p.I115fs	PAFAH1B1_uc010ckb.2_Non-coding_Transcript	NM_000430	NP_000421	P43034	LIS1_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1), mRNA.	115	Interaction with dynein and dynactin.				G2/M transition of mitotic cell cycle|acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						CACTCGAGTCATTTTCCATCC	0.458													-	2570437	T	-	2570437	7	5	16	1	0	1	0	1	0	0	0	0	11384	1493	52	0	358	0	PAFAH1B1	17	2570437	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08		2570437	78624773	1246	13568											
CAMKK1	84254	broad.mit.edu	37	chr17	3786397	3786397	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatggcaatctcctggtacAcccgctccaggggcagcagc	13	14	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:3786397A>G	uc002fwt.2	-	6	681	c.587T>C	c.(586-588)GTG>GCG	p.V196A	CAMKK1_uc002fwu.2_Missense_Mutation_p.V196A|CAMKK1_uc002fwv.2_Missense_Mutation_p.V196A	NM_172206	NP_757343	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase 1	196	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CTCCTGGTACACCCGCTCCAG	0.617													G	3786397	A	G	3786397	3	3	16	1	0	0	0	0	1	0	0	0	2606	159	6	3	1096	3	CAMKK1	17	3786397	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	1215960	3786397	77408813	1247	13569											
ZZEF1	23140	broad.mit.edu	37	chr17	3926101	3926101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgaaggaaagtagcacGgatctcctcaaaaccgtgag	12	9	3	2	rs149535137		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:3926101G>A	uc002fxe.2	-	44	7178	c.7114C>T	c.(7114-7116)CGT>TGT	p.R2372C	ZZEF1_uc002fxh.2_Missense_Mutation_p.R686C|ZZEF1_uc002fxi.2_Missense_Mutation_p.R607C	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2372							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						AAAGTAGCACGGATCTCCTCA	0.483													A	3926101	G	A	3926101	3	1	16	1	0	0	0	0	1	0	0	0	18252	1116	39	1	1819	1	ZZEF1	17	3926101	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	139704	3926101	77269109	1248	13570											
MYBBP1A	10514	broad.mit.edu	37	chr17	4448573	4448573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgcacccttcagccgcCgctcatcagaatcgtccgtc	7	19	4	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:4448573C>T	uc002fyb.3	-	16	2203	c.2141G>A	c.(2140-2142)CGG>CAG	p.R714Q	MYBBP1A_uc002fxz.3_Missense_Mutation_p.R714Q|MYBBP1A_uc002fya.3_5'Flank|MYBBP1A_uc010vsa.1_5'Flank	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	714					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						CTTCAGCCGCCGCTCATCAGA	0.657													T	4448573	C	T	4448573	3	4	16	1	0	0	0	0	1	0	0	0	10008	652	23	1	1929	1	MYBBP1A	17	4448573	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	522472	4448573	76746637	1249	13571											
ALOX15	246	broad.mit.edu	37	chr17	4539247	4539247	+	Frame_Shift_Del	DEL	G	G	-													ggggaggtggtggggatcctGtgcggggcagctggagctgg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:4539246_4539246TG>T	uc002fyh.3	-	7	994	c.969_969CA>A	c.(967-969)acafs	p.T323fs	ALOX15_uc010vsd.2_Frame_Shift_Del_p.T284fs|ALOX15_uc010vse.2_Frame_Shift_Del_p.T345fs	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	323	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GTGGGGATCCTGTGCGGGGCA	0.617													-	4539247	G	-	4539247	7	5	16	1	0	1	0	1	0	0	0	0	538	1377	48	0	1048	0	ALOX15	17	4539247	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	90674	4539247	76655963	1250	13572											
USP6	9098	broad.mit.edu	37	chr17	5041042	5041042	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattgctcttaaggttcagCagagtaagtctacgtgtgcc	11	9	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:5041042C>T	uc002gau.1	+	20	3152	c.922C>T	c.(922-924)CAG>TAG	p.Q308*	USP6_uc002gav.1_Nonsense_Mutation_p.Q308*|USP6_uc010ckz.1_5'UTR|uc002gbd.2_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	308					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						TAAGGTTCAGCAGAGTAAGTC	0.572			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								T	5041042	C	T	5041042	4	4	16	1	0	0	0	0	0	1	0	0	17083	711	25	2	964	2	USP6	17	5041042	Nonsense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	501795	5041042	76154168	1251	13573											
TXNDC17	84817	broad.mit.edu	37	chr17	6544520	6544520	+	Frame_Shift_Del	DEL	A	A	-													gttctaaggacgccggggggAaaagctggtgccccgactgc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:6544520delA	uc002gdf.3	+	1	299	c.118delA	c.(118-120)AAAfs	p.K40fs	KIAA0753_uc002gde.3_5'Flank|KIAA0753_uc010vte.1_5'Flank	NM_032731	NP_116120	Q9BRA2	TXD17_HUMAN	thioredoxin-like 5	40					tumor necrosis factor-mediated signaling pathway	cytosol	electron carrier activity|peroxidase activity|protein binding|protein-disulfide reductase activity			ovary(1)	1						CGCCGGGGGGAAAAGCTGGTG	0.632													-	6544520	A	-	6544520	7	5	16	1	0	1	0	1	0	0	0	0	16793	247	9	0	120	0	TXNDC17	17	6544520	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	1503478	6544520	74650690	1252	13574											
CLEC10A	10462	broad.mit.edu	37	chr17	6978516	6978516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcccgtgcccctgccagtCgtctggctggcctggcttcc	12	18	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:6978516C>T	uc002gek.2	-	9	1111	c.808G>A	c.(808-810)GAC>AAC	p.D270N	CLEC10A_uc002gej.2_Missense_Mutation_p.D246N|CLEC10A_uc002gel.2_Missense_Mutation_p.D243N|CLEC10A_uc010clv.1_3'UTR	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN	C-type lectin, superfamily member 14 isoform 1	270	C-type lectin.|Extracellular (Potential).				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding				0						CCCTGCCAGTCGTCTGGCTGG	0.597													T	6978516	C	T	6978516	3	4	16	1	0	0	0	0	1	0	0	0	3495	884	31	1	146	1	CLEC10A	17	6978516	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	433996	6978516	74216694	1253	13575											
DLG4	1742	broad.mit.edu	37	chr17	7106649	7106649	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgatgctgaagccaagacCtggatggaggggaggccaga	17	8	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:7106649C>T	uc002get.3	-	9	1836	c.635_splice	c.e9-1	p.G212_splice	DLG4_uc010vtm.1_Splice_Site|DLG4_uc010vtn.1_Splice_Site_p.G109_splice|DLG4_uc010cly.2_Splice_Site_p.G166_splice|DLG4_uc010vto.1_Splice_Site_p.G209_splice|DLG4_uc002geu.2_Splice_Site_p.G166_splice	NM_001365	NP_001356	P78352	DLG4_HUMAN	post-synaptic density protein 95 isoform 1						axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			ovary(1)|breast(1)	2						AAGCCAAGACCTGGATGGAGG	0.562													T	7106649	C	T	7106649	5	4	16	1	0	0	0	0	0	0	1	0	4557	695	24	4	1725	4	DLG4	17	7106649	Splice_Site	SNP	C	TCGA-BR-4292-01A-01D-1126-08	128133	7106649	74088561	1254	13576											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:7577121G>A	uc002gim.2	-	8	1011	c.817C>T	c.(817-819)CGT>TGT	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7577121	G	A	7577121	3	1	16	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	470472	7577121	73618089	1255	13577											
CHD3	1107	broad.mit.edu	37	chr17	7810789	7810789	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctgaacctgggtaccgtgGggacagagagaagtcaggtg	17	8	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:7810789G>T	uc002gje.2	+	32	5057	c.4907G>T	c.(4906-4908)GGG>GTG	p.G1636V	CHD3_uc002gjd.2_Missense_Mutation_p.G1695V|CHD3_uc002gjf.2_Missense_Mutation_p.G1636V|CHD3_uc002gjh.2_Missense_Mutation_p.G212V|CHD3_uc002gjj.2_5'Flank	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1636	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				GGGTACCGTGGGGACAGAGAG	0.577													T	7810789	G	T	7810789	3	4	16	1	0	0	0	0	1	0	0	0	3326	1232	43	5	5314	5	CHD3	17	7810789	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	233668	7810789	73384421	1256	13578											
ALOX12B	242	broad.mit.edu	37	chr17	7978911	7978911	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggtgtccaggcccatAcctgagctctcccgccccag	10	19	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:7978911A>G	uc002gjy.1	-	12	1915	c.1654_splice	c.e12+1	p.G552_splice		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type						epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0						CCAGGCCCATACCTGAGCTCT	0.587										Multiple Myeloma(8;0.094)			G	7978911	A	G	7978911	5	3	16	1	0	0	0	0	0	0	1	0	537	405	14	3	465	3	ALOX12B	17	7978911	Splice_Site	SNP	A	TCGA-BR-4292-01A-01D-1126-08	168122	7978911	73216299	1257	13579											
TMEM107	84314	broad.mit.edu	37	chr17	8077915	8077915	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggacagggccacggatgcActacagtgagccccaatggc	13	12	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:8077915A>G	uc002gkg.3	-	4	386	c.276T>C	c.(274-276)AGT>AGC	p.S92S	TMEM107_uc002gkh.3_Silent_p.S98S|TMEM107_uc002gki.3_Silent_p.S98S|TMEM107_uc002gkj.3_Intron|TMEM107_uc002gkk.2_3'UTR	NM_183065	NP_898888	Q6UX40	TM107_HUMAN	transmembrane protein 107 isoform 2	92	Helical; (Potential).					integral to membrane					0						CCACGGATGCACTACAGTGAG	0.507													G	8077915	A	G	8077915	2	3	16	1	0	0	0	0	0	0	0	1	16020	156	6	3		3	TMEM107	17	8077915	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	99004	8077915	73117295	1258	13580											
MYH10	4628	broad.mit.edu	37	chr17	8393780	8393780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcttggcatcttccgtggCctggagttcgtcttccagct	11	12	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:8393780C>T	uc002gll.2	-	33	4765	c.4669G>A	c.(4669-4671)GCC>ACC	p.A1557T	MYH10_uc002glm.2_Missense_Mutation_p.A1588T|MYH10_uc010cnx.2_Missense_Mutation_p.A1566T	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1557	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						TCTTCCGTGGCCTGGAGTTCG	0.542													T	8393780	C	T	8393780	3	4	16	1	0	0	0	0	1	0	0	0	10030	739	26	2	1297	2	MYH10	17	8393780	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	315865	8393780	72801430	1259	13581											
WDR16	146845	broad.mit.edu	37	chr17	9515631	9515631	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctccctaaaggaagaTtcagttacaaggcggcatca	9	10	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:9515631T>A	uc002gly.2	+	8	929	c.860T>A	c.(859-861)ATT>AAT	p.I287N	WDR16_uc002glz.2_Missense_Mutation_p.I219N|WDR16_uc010coc.2_Missense_Mutation_p.I297N	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN	WD40-repeat protein upregulated in HCC isoform	287						cytoplasm|intracellular membrane-bounded organelle	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						TAAAGGAAGATTCAGTTACAA	0.428													A	9515631	T	A	9515631	3	1	16	1	0	0	0	0	1	0	0	0	17273	1493	52	5	890	5	WDR16	17	9515631	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	1121851	9515631	71679579	1260	13582											
MYH8	4626	broad.mit.edu	37	chr17	10303844	10303844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctcagccatactgtctgCgtgcttcttccgaagagcag	10	12	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:10303844C>T	uc002gmm.2	-	27	3693	c.3598G>A	c.(3598-3600)GCA>ACA	p.A1200T	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1200	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						ATACTGTCTGCGTGCTTCTTC	0.547									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				T	10303844	C	T	10303844	3	4	16	1	0	0	0	0	1	0	0	0	10041	768	27	1	2271	1	MYH8	17	10303844	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	788213	10303844	70891366	1261	13583											
MYH4	4622	broad.mit.edu	37	chr17	10355428	10355428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagagcagctgccgtggcttCgtgctgcagggtggactctt	15	10	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:10355428C>T	uc002gmn.2	-	27	3679	c.3568G>A	c.(3568-3570)GAA>AAA	p.E1190K	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1190	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						GCCGTGGCTTCGTGCTGCAGG	0.582													T	10355428	C	T	10355428	3	4	16	1	0	0	0	0	1	0	0	0	10037	893	31	1	2307	1	MYH4	17	10355428	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	51584	10355428	70839782	1262	13584											
DNAH9	1770	broad.mit.edu	37	chr17	11713626	11713626	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaacacagtgtttctcatgActgatgcccaagtggctgat	9	10	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:11713626A>G	uc002gne.2	+	45	8715	c.8647A>G	c.(8647-8649)ACT>GCT	p.T2883A	DNAH9_uc010coo.2_Missense_Mutation_p.T2177A	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2883	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTTTCTCATGACTGATGCCCA	0.448													G	11713626	A	G	11713626	3	3	16	1	0	0	0	0	1	0	0	0	4608	275	10	3	8825	3	DNAH9	17	11713626	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	1358198	11713626	69481584	1263	13585											
ELAC2	60528	broad.mit.edu	37	chr17	12919107	12919108	+	Frame_Shift_Del	DEL	AC	AC	-													gttgtggaggtccagaaagtAcacactttggaagcccggtt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:12919106_12919107TAC>T	uc002gnz.4	-	3	527_528	c.410_411GTA>A	c.(409-411)gtafs	p.V137fs	ELAC2_uc010vvo.2_5'Flank|ELAC2_uc010vvp.2_Frame_Shift_Del_p.V118fs|ELAC2_uc010vvq.2_Frame_Shift_Del_p.V137fs|ELAC2_uc010vvr.2_Frame_Shift_Del_p.V137fs	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	137					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GTCCAGAAAGTACACACTTTGG	0.371													-	12919108	AC	-	12919107	7	5	16	1	0	1	0	1	0	0	0	0	5047	391	14	0	2154	0	ELAC2	17	12919107	Frame_Shift_Del	DEL	AC	TCGA-BR-4292-01A-01D-1126-08	1205481	12919107	68276103	1264	13586											
MPRIP	23164	broad.mit.edu	37	chr17	17046886	17046886	+	Frame_Shift_Del	DEL	C	C	-													acaggacttcaccaatgaagCccccccagctcctctcccag							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:17046886delC	uc002gqu.1	+	9	1108	c.1052delC	c.(1051-1053)GCCfs	p.A351fs	MPRIP_uc002gqv.1_Frame_Shift_Del_p.A351fs|MPRIP_uc002gqw.1_Intron	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	351	Interaction with F-actin (By similarity).					cytoplasm|cytoskeleton	actin binding				0						ACCAATGAAGCCCCCCCAGCT	0.652													-	17046886	C	-	17046886	7	5	16	1	0	1	0	1	0	0	0	0	9743	739	26	0	1086	0	MPRIP	17	17046886	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	4127779	17046886	64148324	1265	13587											
RAI1	10743	broad.mit.edu	37	chr17	17696624	17696624	+	Frame_Shift_Del	DEL	G	G	-													tgaggagagccttcaggcttGgggggccccacagccaccac							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:17696624delG	uc002grm.2	+	3	831	c.362delG	c.(361-363)TGGfs	p.W121fs	RAI1_uc002grn.1_Frame_Shift_Del_p.W121fs	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	121						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CTTCAGGCTTGGGGGGCCCCA	0.652													-	17696624	G	-	17696624	7	5	16	1	0	1	0	1	0	0	0	0	13007	1357	47	0	364	0	RAI1	17	17696624	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	649738	17696624	63498586	1266	13588											
LLGL1	3996	broad.mit.edu	37	chr17	18140896	18140896	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcacatggaagggccaCgagcggctgagcccacgcac	14	14	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:18140896C>T	uc002gsp.2	+	14	1774	c.1713C>T	c.(1711-1713)CAC>CAT	p.H571H		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	571	WD 9.				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)					GGAAGGGCCACGAGCGGCTGA	0.672													T	18140896	C	T	18140896	2	4	16	1	0	0	0	0	0	0	0	1	8833	535	19	1		1	LLGL1	17	18140896	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	444272	18140896	63054314	1267	13589											
LLGL1	3996	broad.mit.edu	37	chr17	18140961	18140961	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccagccccgtgtcctggTgcagtgcctgccgccagctg	12	17	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:18140961T>C	uc002gsp.2	+	14	1839	c.1778T>C	c.(1777-1779)GTG>GCG	p.V593A		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	593	WD 9.				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)					CGTGTCCTGGTGCAGTGCCTG	0.667													C	18140961	T	C	18140961	3	2	16	1	0	0	0	0	1	0	0	0	8833	1696	59	3	1832	3	LLGL1	17	18140961	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	65	18140961	63054249	1268	13590											
FBXW10	10517	broad.mit.edu	37	chr17	18675757	18675757	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagagagcaatgttctcaTgttccagtttgagcacataa	8	9	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:18675757T>C	uc002guk.2	+	12	2271	c.2039T>C	c.(2038-2040)ATG>ACG	p.M680T	FBXW10_uc002guj.2_Missense_Mutation_p.M680T|FBXW10_uc002gul.2_Missense_Mutation_p.M709T|FBXW10_uc010cqh.1_Missense_Mutation_p.M627T	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	F-box and WD-40 domain protein 10	680										ovary(1)	1						AATGTTCTCATGTTCCAGTTT	0.353													C	18675757	T	C	18675757	3	2	16	1	0	0	0	0	1	0	0	0	5763	1464	51	3	2085	3	FBXW10	17	18675757	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	534796	18675757	62519453	1269	13591											
ALDOC	230	broad.mit.edu	37	chr17	26902512	26902512	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcaatgtcagacaactccttCttctgctcagcagaaagggc	9	12	4	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:26902512C>T	uc002hbp.2	-	2	184	c.39G>A	c.(37-39)AAG>AAA	p.K13K	ALDOC_uc010cro.2_Silent_p.K13K	NM_005165	NP_005156	P09972	ALDOC_HUMAN	fructose-bisphosphate aldolase C	13					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			ovary(1)	1	Lung NSC(42;0.00431)					ACAACTCCTTCTTCTGCTCAG	0.552											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	26902512	C	T	26902512	2	4	16	1	0	0	0	0	0	0	0	1	509	912	32	4		4	ALDOC	17	26902512	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	8226755	26902512	54292698	1270	13592											
KIAA0100	9703	broad.mit.edu	37	chr17	26958520	26958520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagctgtgcgattgctatGccgttggtaggtgagggagg	17	7	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:26958520G>A	uc002hbu.2	-	23	4375	c.4276C>T	c.(4276-4278)CAT>TAT	p.H1426Y		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1426						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					CGATTGCTATGCCGTTGGTAG	0.408													A	26958520	G	A	26958520	3	1	16	1	0	0	0	0	1	0	0	0	8154	1319	46	2	2499	2	KIAA0100	17	26958520	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	56008	26958520	54236690	1271	13593											
FLOT2	2319	broad.mit.edu	37	chr17	27209367	27209367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacatacccggatgcctgcGtcccgttcagcctcggccac	9	19	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:27209367G>A	uc002hdc.2	-	6	690	c.567C>T	c.(565-567)GAC>GAT	p.D189D		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	flotillin 2	189					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction					0	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GGATGCCTGCGTCCCGTTCAG	0.582													A	27209367	G	A	27209367	2	1	16	1	0	0	0	0	0	0	0	1	5937	1136	40	1		1	FLOT2	17	27209367	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	250847	27209367	53985843	1272	13594											
NF1	4763	broad.mit.edu	37	chr17	29556992	29556992	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgatgttaaatctggtcaGgtaagcattctactgaaatg	9	5	3	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:29556992G>T	uc002hgg.2	+	22	3323	c.2990G>T	c.(2989-2991)AGG>ATG	p.R997M	NF1_uc002hgh.2_Missense_Mutation_p.R997M|NF1_uc010csn.1_Missense_Mutation_p.R857M|NF1_uc002hgi.1_Missense_Mutation_p.R30M	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	997					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)|p.R997fs*16(1)|p.R997K(1)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATCTGGTCAGGTAAGCATTC	0.353			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29556992	G	T	29556992	3	4	16	1	0	0	0	0	1	0	0	0	10356	1014	35	5	3137	5	NF1	17	29556992	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2347625	29556992	51638218	1273	13595											
NF1	4763	broad.mit.edu	37	chr17	29684298	29684298	+	Frame_Shift_Del	DEL	A	A	-													tcttggcaggctacactggtAaaatataccacagatgagtt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:29684298delA	uc002hgg.2	+	54	8214	c.7881delA	c.(7879-7881)GTAfs	p.V2627fs	NF1_uc002hgh.2_Frame_Shift_Del_p.V2606fs|NF1_uc010cso.2_Frame_Shift_Del_p.V815fs|NF1_uc010wbt.1_Frame_Shift_Del_p.V105fs|NF1_uc010wbu.1_RNA	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2627					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTACACTGGTAAAATATACCA	0.378			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29684298	A	-	29684298	7	5	16	1	0	1	0	1	0	0	0	0	10356	349	13	0	8156	0	NF1	17	29684298	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	127306	29684298	51510912	1274	13596											
TMEM132E	124842	broad.mit.edu	37	chr17	32956140	32956140	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acattgactaccgtggccacGgcgccctgcctgacctggag	12	15	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:32956140G>T	uc002hif.2	+	5	1313	c.985G>T	c.(985-987)GGC>TGC	p.G329C		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	329	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCGTGGCCACGGCGCCCTGCC	0.607													T	32956140	G	T	32956140	3	4	16	1	0	0	0	0	1	0	0	0	16045	1116	39	5	1003	5	TMEM132E	17	32956140	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	3271842	32956140	48239070	1275	13597											
SLFN5	162394	broad.mit.edu	37	chr17	33586176	33586176	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccaattcattaggtccacAggcagctcagggtagtgtac	10	10	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:33586176A>C	uc002hjf.3	+	2	584	c.467A>C	c.(466-468)CAG>CCG	p.Q156P	SLFN5_uc002hje.2_Missense_Mutation_p.Q156P|SLFN5_uc010wcg.1_Missense_Mutation_p.Q156P	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	156					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TTAGGTCCACAGGCAGCTCAG	0.423													C	33586176	A	C	33586176	3	2	16	1	0	0	0	0	1	0	0	0	14737	188	7	5	469	5	SLFN5	17	33586176	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	630036	33586176	47609034	1276	13598											
CCL15	6359	broad.mit.edu	37	chr17	34324855	34324855	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatcctgaactcccggaccaCtgggtttggcacagacttgc	10	13	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:34324855C>A	uc010wcu.1	-	4	859	c.290G>T	c.(289-291)AGT>ATT	p.S97I	CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA	NM_032965	NP_116741	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15 precursor	97					cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCCCGGACCACTGGGTTTGGC	0.512													A	34324855	C	A	34324855	3	1	16	1	0	0	0	0	1	0	0	0	2886	565	20	5	55	5	CCL15	17	34324855	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	738679	34324855	46870355	1277	13599											
SYNRG	11276	broad.mit.edu	37	chr17	35902366	35902366	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctcactggtctgaggaatCgtgtctttaaaactggcaag	11	8	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:35902366C>T	uc002hoa.2	-	15	2993	c.2910G>A	c.(2908-2910)ACG>ACA	p.T970T	SYNRG_uc010wde.1_Silent_p.T892T|SYNRG_uc010wdf.1_Silent_p.T892T|SYNRG_uc002hoc.2_Silent_p.T891T|SYNRG_uc002hoe.2_Silent_p.T892T|SYNRG_uc002hod.2_Silent_p.T847T|SYNRG_uc010wdg.1_Silent_p.T764T|SYNRG_uc002hob.2_Silent_p.T970T|SYNRG_uc002hof.2_Silent_p.T636T	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	970					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						TCTGAGGAATCGTGTCTTTAA	0.458													T	35902366	C	T	35902366	2	4	16	1	0	0	0	0	0	0	0	1	15457	871	31	1		1	SYNRG	17	35902366	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1577511	35902366	45292844	1278	13600											
C17orf98	388381	broad.mit.edu	37	chr17	36997563	36997563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctagagcgcccataagcgCgggcagcggtgctcacagcc	14	15	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:36997563C>T	uc002hqv.2	-	1	80	c.80G>A	c.(79-81)CGC>CAC	p.R27H		NM_001080465	NP_001073934	A8MV24	CQ098_HUMAN	hypothetical protein LOC388381	27											0						CCCATAAGCGCGGGCAGCGGT	0.632													T	36997563	C	T	36997563	3	4	16	1	0	0	0	0	1	0	0	0	1893	768	27	1	396	1	C17orf98	17	36997563	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1095197	36997563	44197647	1279	13601											
NR1D1	9572	broad.mit.edu	37	chr17	38253490	38253490	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggaatgctcccaaaggaGcgagccgggtcttgggtgag	18	8	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:38253490G>A	uc002htz.1	-	2	824	c.198C>T	c.(196-198)CGC>CGT	p.R66R	NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_5'Flank	NM_021724	NP_068370	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	66					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			skin(1)	1	Colorectal(19;0.000442)					TCCCAAAGGAGCGAGCCGGGT	0.463													A	38253490	G	A	38253490	2	1	16	1	0	0	0	0	0	0	0	1	10615	958	34	2		2	NR1D1	17	38253490	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1255927	38253490	42941720	1280	13602											
KRT27	342574	broad.mit.edu	37	chr17	38936090	38936090	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgttcacgttgcctccagcCgcgcactgaagagctttcat	9	14	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:38936090C>A	uc002hvg.2	-	4	749	c.708G>T	c.(706-708)GCG>GCT	p.A236A		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	236	Rod.|Linker 12.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)				TGCCTCCAGCCGCGCACTGAA	0.433													A	38936090	C	A	38936090	2	1	16	1	0	0	0	0	0	0	0	1	8464	639	23	5		5	KRT27	17	38936090	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	682600	38936090	42259120	1281	13603											
KRT12	3859	broad.mit.edu	37	chr17	39021080	39021080	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtggttcttcttcatgTaggccagctcctcgttcagg	10	13	4	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:39021080T>C	uc002hvk.2	-	3	809	c.785A>G	c.(784-786)TAC>TGC	p.Y262C		NM_000223	NP_000214	Q99456	K1C12_HUMAN	keratin 12	262	Rod.|Coil 1B.				visual perception	intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				CTTCTTCATGTAGGCCAGCTC	0.522													C	39021080	T	C	39021080	3	2	16	1	0	0	0	0	1	0	0	0	8449	1638	57	3	723	3	KRT12	17	39021080	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	84990	39021080	42174130	1282	13604											
KRTAP4-1	85285	broad.mit.edu	37	chr17	39340921	39340921	+	Frame_Shift_Del	DEL	G	G	-													cagactgggtggcagcagctGgggcgacagcaagtggtctg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:39340920_39340920TG>T	uc002hwe.4	-	0	228	c.187_187CA>A	c.(187-189)agcfs	p.S63fs	KRTAP4-1_uc010cxm.1_Non-coding_Transcript	NM_033060	NP_149049	Q9BYQ7	KRA41_HUMAN	Homo sapiens keratin associated protein 4-1 (KRTAP4-1), mRNA.	63	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TGGCAGCAGCTGGGGCGACAG	0.647													-	39340921	G	-	39340921	7	5	16	1	0	1	0	1	0	0	0	0	8548	1335	47	0	205	0	KRTAP4-1	17	39340921	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	319841	39340921	41854289	1283	13605											
KRT17	3872	broad.mit.edu	37	chr17	39776936	39776936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctctccctccagcaggcGgcggtaggtggcaatctcct	11	15	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:39776936G>A	uc002hxh.2	-	6	1277	c.1156C>T	c.(1156-1158)CGC>TGC	p.R386C	JUP_uc010wfs.1_Intron	NM_000422	NP_000413	Q04695	K1C17_HUMAN	keratin 17	386	Coil 2.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2		Breast(137;0.000307)				TCCAGCAGGCGGCGGTAGGTG	0.627									Steatocystoma_Multiplex				A	39776936	G	A	39776936	3	1	16	1	0	0	0	0	1	0	0	0	8454	1116	39	1	154	1	KRT17	17	39776936	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	436015	39776936	41418274	1284	13606											
ATP6V0A1	535	broad.mit.edu	37	chr17	40642658	40642658	+	Splice_Site	DEL	A	A	-													accgagagataaatccaggtAaaaaaaagcttgttatcttt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:40642657_40642657TA>T	uc002hzs.3	+	11	1362	c.1195_splice	c.e11+2	p.A399_splice	ATP6V0A1_uc002hzr.3_Splice_Site_p.A392_splice|ATP6V0A1_uc002hzq.3_Splice_Site_p.A392_splice|ATP6V0A1_uc010wgj.2_Splice_Site_p.A349_splice|ATP6V0A1_uc010wgk.2_Splice_Site_p.A349_splice|ATP6V0A1_uc010cyg.3_Splice_Site_p.A38_splice|ATP6V0A1_uc010wgl.2_Splice_Site_p.A251_splice	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	392					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TAAATCCAGGTAAAAAAAAGC	0.388													-	40642658	A	-	40642658	8	5	16	1	0	1	0	1	0	0	1	0	1168	377	13	0		0	ATP6V0A1	17	40642658	Splice_Site	DEL	A	TCGA-BR-4292-01A-01D-1126-08	865722	40642658	40552552	1285	13607											
NAGLU	4669	broad.mit.edu	37	chr17	40695811	40695811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccctgttgagggctggagGcgtcctggcctatgagctgc	15	12	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:40695811G>A	uc002hzv.2	+	6	2127	c.1787G>A	c.(1786-1788)GGC>GAC	p.G596D		NM_000263	NP_000254	P54802	ANAG_HUMAN	alpha-N-acetylglucosaminidase precursor	596						lysosome	alpha-N-acetylglucosaminidase activity				0		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	AGGGCTGGAGGCGTCCTGGCC	0.642													A	40695811	G	A	40695811	3	1	16	1	0	0	0	0	1	0	0	0	10143	1203	42	2	1809	2	NAGLU	17	40695811	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	53153	40695811	40499399	1286	13608											
HSD17B1	3292	broad.mit.edu	37	chr17	40706500	40706500	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcccagaggaggtgctggAccgcacggacatccacacct	12	15	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:40706500A>C	uc002hzw.2	+	5	1585	c.617A>C	c.(616-618)GAC>GCC	p.D206A	HSD17B1_uc002hzx.2_Missense_Mutation_p.D207A|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_5'UTR|HSD17B1_uc010cyi.2_Missense_Mutation_p.D237A	NM_000413	NP_000404	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	206					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity				0		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	GAGGTGCTGGACCGCACGGAC	0.632													C	40706500	A	C	40706500	3	2	16	1	0	0	0	0	1	0	0	0	7378	275	10	5	635	5	HSD17B1	17	40706500	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	10689	40706500	40488710	1287	13609											
PSMC3IP	29893	broad.mit.edu	37	chr17	40725006	40725006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggggtctgggagtgtgaCgttgtaatcttcatccgtct	13	8	5	1	rs149230650		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:40725006C>T	uc002iai.2	-	8	677	c.634G>A	c.(634-636)GTC>ATC	p.V212I	MLX_uc002iaf.2_3'UTR|MLX_uc002iag.2_3'UTR|MLX_uc002iah.2_3'UTR|PSMC3IP_uc002iaj.2_Missense_Mutation_p.V149I|PSMC3IP_uc002iak.2_Missense_Mutation_p.V200I|PSMC3IP_uc010wgn.1_Missense_Mutation_p.V133I|PSMC3IP_uc010wgo.1_RNA|PSMC3IP_uc010wgp.1_RNA	NM_016556	NP_057640	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein isoform 2	212					DNA recombination|meiosis	nucleus	DNA binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GGGAGTGTGACGTTGTAATCT	0.522													T	40725006	C	T	40725006	3	4	16	1	0	0	0	0	1	0	0	0	12688	536	19	1	23	1	PSMC3IP	17	40725006	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	18506	40725006	40470204	1288	13610											
AOC3	8639	broad.mit.edu	37	chr17	41003976	41003976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctacaagcaccggggaCggaacctggtgacaatgacc	12	12	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:41003976C>T	uc002ibv.2	+	1	776	c.616C>T	c.(616-618)CGG>TGG	p.R206W		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	206	Extracellular (Potential).				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			central_nervous_system(2)|ovary(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GCACCGGGGACGGAACCTGGT	0.577													T	41003976	C	T	41003976	3	4	16	1	0	0	0	0	1	0	0	0	728	527	19	1	618	1	AOC3	17	41003976	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	278970	41003976	40191234	1289	13611											
MPP2	4355	broad.mit.edu	37	chr17	41959741	41959741	+	Frame_Shift_Del	DEL	G	G	-													caggagctcctgcagtgcgcGggggtcactgcccactggct							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:41959741delG	uc010wip.1	-	6	784	c.727delC	c.(727-729)CGCfs	p.R243fs	MPP2_uc002ien.1_Frame_Shift_Del_p.R215fs|MPP2_uc010wim.1_Frame_Shift_Del_p.R187fs|MPP2_uc002ieo.1_Frame_Shift_Del_p.R198fs|MPP2_uc010win.1_Frame_Shift_Del_p.R59fs|MPP2_uc010wio.1_Frame_Shift_Del_p.R187fs|MPP2_uc010czm.1_Frame_Shift_Del_p.R181fs	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	222	PDZ.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TGCAGTGCGCGGGGGTCACTG	0.652													-	41959741	G	-	41959741	7	5	16	1	0	1	0	1	0	0	0	0	9734	1116	39	0	1098	0	MPP2	17	41959741	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	955765	41959741	39235469	1290	13612											
MPP2	4355	broad.mit.edu	37	chr17	41959879	41959879	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccacgcggaacgttacacCctggaggtcagagggagtgt	14	11	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:41959879C>A	uc010wip.1	-	6	646	c.589G>T	c.(589-591)GGT>TGT	p.G197C	MPP2_uc002ien.1_Missense_Mutation_p.G169C|MPP2_uc010wim.1_Missense_Mutation_p.G141C|MPP2_uc002ieo.1_Missense_Mutation_p.G152C|MPP2_uc010win.1_Missense_Mutation_p.G13C|MPP2_uc010wio.1_Missense_Mutation_p.G141C|MPP2_uc010czm.1_Missense_Mutation_p.G135C	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	176					signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AACGTTACACCCTGGAGGTCA	0.567													A	41959879	C	A	41959879	3	1	16	1	0	0	0	0	1	0	0	0	9734	637	22	5	1236	5	MPP2	17	41959879	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	138	41959879	39235331	1291	13613											
MPP2	4355	broad.mit.edu	37	chr17	41975706	41975706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctctgcagcccccgtgGcactggggagggatcccaag	14	15	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:41975706G>A	uc010wip.1	-	3	266	c.209C>T	c.(208-210)GCC>GTC	p.A70V	MPP2_uc002ien.1_Missense_Mutation_p.A42V|MPP2_uc010wim.1_Missense_Mutation_p.A14V|MPP2_uc002ieo.1_Missense_Mutation_p.A25V|MPP2_uc010win.1_Intron|MPP2_uc010wio.1_Missense_Mutation_p.A14V|MPP2_uc010czm.1_Missense_Mutation_p.A14V	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	25	L27 1.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGCCCCCGTGGCACTGGGGAG	0.577													A	41975706	G	A	41975706	3	1	16	1	0	0	0	0	1	0	0	0	9734	1203	42	2	1628	2	MPP2	17	41975706	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	15827	41975706	39219504	1292	13614											
HDAC5	10014	broad.mit.edu	37	chr17	42170162	42170162	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaactctggtccaaagaagcAtggtgggctcccctggggtg	15	10	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:42170162A>G	uc002ifd.1	-	7	865	c.654T>C	c.(652-654)CAT>CAC	p.H218H	HDAC5_uc002ife.1_Silent_p.H218H|HDAC5_uc002iff.1_Silent_p.H219H|HDAC5_uc010czp.1_Silent_p.H218H|HDAC5_uc002ifh.2_Silent_p.H218H	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	218					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CCAAAGAAGCATGGTGGGCTC	0.612													G	42170162	A	G	42170162	2	3	16	1	0	0	0	0	0	0	0	1	7010	214	8	3		3	HDAC5	17	42170162	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	194456	42170162	39025048	1293	13615											
GPATCH8	23131	broad.mit.edu	37	chr17	42475277	42475277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagggtgaatgccgatggCggcagcagctgcggcagcat	18	9	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:42475277C>T	uc002igw.1	-	8	4232	c.4168G>A	c.(4168-4170)GCC>ACC	p.A1390T	GPATCH8_uc002igv.1_Missense_Mutation_p.A1312T|GPATCH8_uc010wiz.1_Missense_Mutation_p.A1312T	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1390	Poly-Ala.					intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATGCCGATGGCGGCAGCAGCT	0.577													T	42475277	C	T	42475277	3	4	16	1	0	0	0	0	1	0	0	0	6594	768	27	1	344	1	GPATCH8	17	42475277	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	305115	42475277	38719933	1294	13616											
NFE2L1	4779	broad.mit.edu	37	chr17	46136768	46136768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagcgtgacaaagcccGgctgctgcgggagaaagtgg	16	11	0	2	rs144484468		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:46136768G>A	uc002imz.3	+	6	2735	c.2084G>A	c.(2083-2085)CGG>CAG	p.R695Q	NFE2L1_uc002ina.3_Missense_Mutation_p.R665Q|NFE2L1_uc002inb.3_Missense_Mutation_p.R665Q|NFE2L1_uc010wle.1_Missense_Mutation_p.R507Q|NFE2L1_uc010wlf.1_Missense_Mutation_p.R539Q	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	695	Leucine-zipper.				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			skin(1)	1						GACAAAGCCCGGCTGCTGCGG	0.607													A	46136768	G	A	46136768	3	1	16	1	0	0	0	0	1	0	0	0	10367	1116	39	1	2102	1	NFE2L1	17	46136768	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	3661491	46136768	35058442	1295	13617											
HOXB13	10481	broad.mit.edu	37	chr17	46805700	46805700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcggcaggagtagtaccCgcctccaaagtaaccataag	9	13	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:46805700C>T	uc002ioa.2	-	1	412	c.256G>A	c.(256-258)GGG>AGG	p.G86R		NM_006361	NP_006352	Q92826	HXB13_HUMAN	homeobox B13	86					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GAGTAGTACCCGCCTCCAAAG	0.687													T	46805700	C	T	46805700	3	4	16	1	0	0	0	0	1	0	0	0	7300	652	23	1	606	1	HOXB13	17	46805700	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	668932	46805700	34389510	1296	13618											
MYST2	11143	broad.mit.edu	37	chr17	47869286	47869286	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagatggaaccgaagattcCgatttttctacagatctcga	8	9	3	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:47869286C>T	uc002ipm.2	+	2	180	c.54C>T	c.(52-54)TCC>TCT	p.S18S	MYST2_uc002ipl.1_Silent_p.S18S|MYST2_uc010wma.1_Silent_p.S18S|MYST2_uc010wmb.1_Silent_p.S18S|MYST2_uc010wmc.1_Silent_p.S18S|MYST2_uc010wmd.1_5'UTR|MYST2_uc010wme.1_5'UTR	NM_007067	NP_008998	O95251	MYST2_HUMAN	MYST histone acetyltransferase 2	18	Ser-rich.				DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						CCGAAGATTCCGATTTTTCTA	0.473													T	47869286	C	T	47869286	2	4	16	1	0	0	0	0	0	0	0	1	10103	639	23	1		1	MYST2	17	47869286	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1063586	47869286	33325924	1297	13619											
CACNA1G	8913	broad.mit.edu	37	chr17	48668860	48668860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggaccttccgcctgatgCgtgtgctgaagctggtgcgc	15	12	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:48668860C>T	uc002irk.1	+	11	2890	c.2518C>T	c.(2518-2520)CGT>TGT	p.R840C	CACNA1G_uc002iri.1_Missense_Mutation_p.R840C|CACNA1G_uc002irj.1_Missense_Mutation_p.R840C|CACNA1G_uc002irl.1_Missense_Mutation_p.R840C|CACNA1G_uc002irm.1_Missense_Mutation_p.R840C|CACNA1G_uc002irn.1_Missense_Mutation_p.R840C|CACNA1G_uc002iro.1_Missense_Mutation_p.R840C|CACNA1G_uc002irp.1_Missense_Mutation_p.R840C|CACNA1G_uc002irq.1_Missense_Mutation_p.R840C|CACNA1G_uc002irr.1_Missense_Mutation_p.R840C|CACNA1G_uc002irs.1_Missense_Mutation_p.R840C|CACNA1G_uc002irt.1_Missense_Mutation_p.R840C|CACNA1G_uc002irv.1_Missense_Mutation_p.R840C|CACNA1G_uc002irw.1_Missense_Mutation_p.R840C|CACNA1G_uc002iru.1_Missense_Mutation_p.R840C|CACNA1G_uc002irx.1_Missense_Mutation_p.R753C|CACNA1G_uc002iry.1_Missense_Mutation_p.R753C|CACNA1G_uc002irz.1_Missense_Mutation_p.R753C|CACNA1G_uc002isa.1_Missense_Mutation_p.R753C|CACNA1G_uc002isb.1_Missense_Mutation_p.R753C|CACNA1G_uc002isc.1_Missense_Mutation_p.R753C|CACNA1G_uc002isd.1_Missense_Mutation_p.R753C|CACNA1G_uc002ise.1_Missense_Mutation_p.R753C|CACNA1G_uc002isf.1_Missense_Mutation_p.R753C|CACNA1G_uc002isg.1_Missense_Mutation_p.R753C|CACNA1G_uc002ish.1_Missense_Mutation_p.R753C|CACNA1G_uc002isi.1_Missense_Mutation_p.R753C	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	840	Helical; Name=S4 of repeat II; (Potential).|II.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCGCCTGATGCGTGTGCTGAA	0.667													T	48668860	C	T	48668860	3	4	16	1	0	0	0	0	1	0	0	0	2544	768	27	1	2560	1	CACNA1G	17	48668860	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	799574	48668860	32526350	1298	13620											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	16	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	7766301	56435161	24760049	1299	13621											
RNF43	54894	broad.mit.edu	37	chr17	56435355	56435357	+	In_Frame_Del	DEL	AGG	AGG	-													gatctggtgacttgctgatcAggagaaggtggctctggctg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:56435354_56435356CAGG>C	uc002iwf.3	-	7	3737_3739	c.1781_1783CCTG>G	c.(1780-1785)cctgat>cGat	p.594_595PD>R	RNF43_uc010wnv.2_In_Frame_Del_p.553_554PD>R|RNF43_uc002iwh.4_In_Frame_Del_p.594_595PD>R|RNF43_uc002iwg.4_In_Frame_Del_p.594_595PD>R|RNF43_uc010dcw.3_In_Frame_Del_p.467_468PD>R	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	594	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTTGCTGATCAGGAGAAGGTGG	0.65													-	56435357	AGG	-	56435355	7	5	16	1	0	1	0	1	0	0	0	0	13495	175	7	0	577	0	RNF43	17	56435355	In_Frame_Del	DEL	AGG	TCGA-BR-4292-01A-01D-1126-08	194	56435355	24759855	1300	13622											
MTMR4	9110	broad.mit.edu	37	chr17	56590291	56590291	+	Frame_Shift_Del	DEL	C	C	-													atgtactccaggctggggggCccctcctcaccctgtaggaa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:56590291delC	uc002iwj.2	-	3	125	c.15delG	c.(13-15)GGGfs	p.G5fs	MTMR4_uc010dcx.1_Frame_Shift_Del_p.G19fs	NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	5						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCTGGGGGGCCCCTCCTCAC	0.562													-	56590291	C	-	56590291	7	5	16	1	0	1	0	1	0	0	0	0	9946	726	26	0	3640	0	MTMR4	17	56590291	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	154936	56590291	24604919	1301	13623											
GDPD1	284161	broad.mit.edu	37	chr17	57351092	57351092	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actggggtgatgacagactaTccaacaaagcttagggattt	11	7	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:57351092T>A	uc002ixk.1	+	10	1040	c.903T>A	c.(901-903)TAT>TAA	p.Y301*		NM_182569	NP_872375	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain	301	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TGACAGACTATCCAACAAAGC	0.318													A	57351092	T	A	57351092	4	1	16	1	0	0	0	0	0	1	0	0	6323	1442	50	5	992	5	GDPD1	17	57351092	Nonsense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	760801	57351092	23844118	1302	13624											
TACO1	51204	broad.mit.edu	37	chr17	61685281	61685281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgcagctggctgagccCgacctggaacaggccgcaca	14	13	0	1	rs151139810	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:61685281C>T	uc002jbd.2	+	5	1013	c.813C>T	c.(811-813)CCC>CCT	p.P271P		NM_016360	NP_057444	Q9BSH4	TACO1_HUMAN	translational activator of mitochondrially	271					regulation of translation	mitochondrion					0						TGGCTGAGCCCGACCTGGAAC	0.542													T	61685281	C	T	61685281	2	4	16	1	0	0	0	0	0	0	0	1	15501	639	23	1		1	TACO1	17	61685281	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	4334189	61685281	19509929	1303	13625											
FTSJ3	117246	broad.mit.edu	37	chr17	61897300	61897300	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cggcccacaccttttttggcTacaacgtaggtgacatggcg	11	12	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:61897300T>A	uc002jbz.2	-	20	2484	c.2406A>T	c.(2404-2406)GTA>GTT	p.V802V	FTSJ3_uc002jca.2_Silent_p.V802V	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	802					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						CTTTTTTGGCTACAACGTAGG	0.542													A	61897300	T	A	61897300	2	1	16	1	0	0	0	0	0	0	0	1	6089	1509	53	5		5	FTSJ3	17	61897300	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	212019	61897300	19297910	1304	13626											
POLG2	11232	broad.mit.edu	37	chr17	62492629	62492630	+	Frame_Shift_Del	DEL	AG	AG	-													tgtcttgcaagatttcgcgtAgagtttctgcagaaactaac					rs149446102		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:62492629_62492630delAG	uc002jei.2	-	1	540_541	c.457_458delCT	c.(457-459)CTAfs	p.L153fs	POLG2_uc010deg.1_Frame_Shift_Del_p.L153fs	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	DNA polymerase subunit gamma-2, mitochondrial	153					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)	1	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			GATTTCGCGTAGAGTTTCTGCA	0.495													-	62492630	AG	-	62492629	7	5	16	1	0	1	0	1	0	0	0	0	12201	420	15	0	1031	0	POLG2	17	62492629	Frame_Shift_Del	DEL	AG	TCGA-BR-4292-01A-01D-1126-08	595329	62492629	18702581	1305	13627											
CCDC45	90799	broad.mit.edu	37	chr17	62527046	62527046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccttttcccctttaggcGtttactgaagcatttgaaag	8	9	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:62527046G>A	uc002jem.2	+	13	1507	c.1449G>A	c.(1447-1449)GCG>GCA	p.A483A	CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Silent_p.A319A|CCDC45_uc002jeo.1_5'Flank	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45	483						centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCCTTTAGGCGTTTACTGAAG	0.284													A	62527046	G	A	62527046	2	1	16	1	0	0	0	0	0	0	0	1	2816	1132	40	1		1	CCDC45	17	62527046	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	34417	62527046	18668164	1306	13628											
CACNG4	27092	broad.mit.edu	37	chr17	65020985	65020985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccccggccaggcatcgtgcGagcctccagcgtcttcccca	10	19	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:65020985G>A	uc002jft.1	+	3	329	c.314G>A	c.(313-315)CGA>CAA	p.R105Q		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	voltage-dependent calcium channel gamma-4	105	Extracellular (Potential).				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)	1	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GGCATCGTGCGAGCCTCCAGC	0.637													A	65020985	G	A	65020985	3	1	16	1	0	0	0	0	1	0	0	0	2559	1058	37	1	324	1	CACNG4	17	65020985	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2493939	65020985	16174225	1307	13629											
CACNG4	27092	broad.mit.edu	37	chr17	65027085	65027085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgaaggaaggtttccacGtcagcatgctgaaccgacgg	12	11	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:65027085G>A	uc002jft.1	+	4	964	c.949G>A	c.(949-951)GTC>ATC	p.V317I		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	voltage-dependent calcium channel gamma-4	317	Cytoplasmic (Potential).				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)	1	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			AGGTTTCCACGTCAGCATGCT	0.607													A	65027085	G	A	65027085	3	1	16	1	0	0	0	0	1	0	0	0	2559	1145	40	1	963	1	CACNG4	17	65027085	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	6100	65027085	16168125	1308	13630											
ARSG	22901	broad.mit.edu	37	chr17	66391298	66391298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgatggtgtggacgtctcCgaggtgctctttggccggtc	15	9	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:66391298C>T	uc002jhc.2	+	10	1972	c.1176C>T	c.(1174-1176)TCC>TCT	p.S392S	ARSG_uc002jhb.1_Silent_p.S228S	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Arylsulfatase G precursor	392					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGGACGTCTCCGAGGTGCTCT	0.582													T	66391298	C	T	66391298	2	4	16	1	0	0	0	0	0	0	0	1	992	639	23	1		1	ARSG	17	66391298	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1364213	66391298	14803912	1309	13631											
CD300C	10871	broad.mit.edu	37	chr17	72541038	72541038	+	Frame_Shift_Del	DEL	C	C	-													gacactgcacactcagggatCcccccacggggcccgccacg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:72541037_72541037TC>T	uc002jky.1	-	1	472	c.111_111GA>A	c.(109-111)ggafs	p.G37fs		NM_006678	NP_006669	Q08708	CLM6_HUMAN	Homo sapiens CD300c molecule (CD300C), mRNA.	37	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CACTCAGGGATCCCCCCACGG	0.542													-	72541038	C	-	72541038	7	5	16	1	0	1	0	1	0	0	0	0	2997	855	30	0	576	0	CD300C	17	72541038	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	6149740	72541038	8654172	1310	13632											
CD300E	342510	broad.mit.edu	37	chr17	72613483	72613483	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctctcacatgacgtgtcGtactgtcctcggcaccagta	9	13	1	1	rs111412583	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:72613483G>A	uc002jlb.1	-	2	203	c.162C>T	c.(160-162)TAC>TAT	p.Y54Y		NM_181449	NP_852114	Q496F6	CLM2_HUMAN	CD300e molecule precursor	54	Ig-like V-type.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						ATGACGTGTCGTACTGTCCTC	0.562													A	72613483	G	A	72613483	2	1	16	1	0	0	0	0	0	0	0	1	2998	1140	40	1		1	CD300E	17	72613483	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	72445	72613483	8581727	1311	13633											
TMEM104	54868	broad.mit.edu	37	chr17	72832455	72832455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacttccccatcattgccGtgaccctgcgcaacaactgg	7	17	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:72832455G>A	uc002jls.3	+	10	1282	c.1120G>A	c.(1120-1122)GTG>ATG	p.V374M	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Missense_Mutation_p.V374M	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	374	Helical; (Potential).					integral to membrane					0	all_lung(278;0.23)					CATCATTGCCGTGACCCTGCG	0.637													A	72832455	G	A	72832455	3	1	16	1	0	0	0	0	1	0	0	0	16015	1145	40	1	1154	1	TMEM104	17	72832455	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	218972	72832455	8362755	1312	13634											
SLC16A5	9121	broad.mit.edu	37	chr17	73094188	73094188	+	Frame_Shift_Del	DEL	G	G	-													tgccgagtgaccgtgatgctGgggggcgtgctggccagcct							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:73094187_73094187TG>T	uc002jmr.3	+	3	626	c.254_254TG>T	c.(253-255)ctgfs	p.L85fs	SLC16A5_uc002jmt.3_Frame_Shift_Del_p.L85fs|SLC16A5_uc002jmu.3_Frame_Shift_Del_p.L85fs|SLC16A5_uc010wrt.2_Frame_Shift_Del_p.L125fs	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	85					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	ACCGTGATGCTGGGGGGCGTG	0.617													-	73094188	G	-	73094188	7	5	16	1	0	1	0	1	0	0	0	0	14411	1335	47	0	261	0	SLC16A5	17	73094188	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	261733	73094188	8101022	1313	13635											
GGA3	23163	broad.mit.edu	37	chr17	73239539	73239539	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacacgtaccctgtctcttcAgcatgtggtaggcgtctttg	11	11	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:73239539A>G	uc002jni.1	-	5	422	c.413T>C	c.(412-414)CTG>CCG	p.L138P	GGA3_uc002jnj.1_Missense_Mutation_p.L105P|GGA3_uc010wrw.1_Missense_Mutation_p.L16P|GGA3_uc002jnk.1_Missense_Mutation_p.L66P|GGA3_uc010wrx.1_Missense_Mutation_p.L16P|GGA3_uc010wry.1_Missense_Mutation_p.L66P|GGA3_uc010wrz.1_Missense_Mutation_p.L105P	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	138	VHS.|Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CTGTCTCTTCAGCATGTGGTA	0.572													G	73239539	A	G	73239539	3	3	16	1	0	0	0	0	1	0	0	0	6354	188	7	3	1898	3	GGA3	17	73239539	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	145351	73239539	7955671	1314	13636											
EVPL	2125	broad.mit.edu	37	chr17	74005351	74005351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccacctccttgctcaccGtcttggtctccaccttggcc	7	19	3	0	rs145535523		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:74005351G>A	uc002jqi.2	-	22	4163	c.3935C>T	c.(3934-3936)ACG>ATG	p.T1312M	EVPL_uc010wss.1_Missense_Mutation_p.T1334M|EVPL_uc010wst.1_Missense_Mutation_p.T782M	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1312	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CTTGCTCACCGTCTTGGTCTC	0.692													A	74005351	G	A	74005351	3	1	16	1	0	0	0	0	1	0	0	0	5292	1145	40	1	2170	1	EVPL	17	74005351	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	765812	74005351	7189859	1315	13637											
EVPL	2125	broad.mit.edu	37	chr17	74005498	74005498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcacgcagcacctcggggCtcctctcatgcctcaccacc	7	20	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:74005498C>T	uc002jqi.2	-	22	4016	c.3788G>A	c.(3787-3789)AGC>AAC	p.S1263N	EVPL_uc010wss.1_Missense_Mutation_p.S1285N|EVPL_uc010wst.1_Missense_Mutation_p.S733N	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1263	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CACCTCGGGGCTCCTCTCATG	0.662													T	74005498	C	T	74005498	3	4	16	1	0	0	0	0	1	0	0	0	5292	797	28	2	2317	2	EVPL	17	74005498	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	147	74005498	7189712	1316	13638											
RNF213	57674	broad.mit.edu	37	chr17	78313974	78313974	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgatggggactgggagcActgctacctcccctctgcct	12	14	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:78313974A>G	uc002jyh.1	+	1	249	c.26A>G	c.(25-27)CAC>CGC	p.H9R		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACTGGGAGCACTGCTACCTC	0.622													G	78313974	A	G	78313974	3	3	16	1	0	0	0	0	1	0	0	0	13477	159	6	3	6224	3	RNF213	17	78313974	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	4308476	78313974	2881236	1317	13639											
BAIAP2	10458	broad.mit.edu	37	chr17	79077502	79077502	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcccctgccggtgcccccCgagctggcaccgttcgtggg	14	17	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:79077502C>T	uc002jzg.2	+	8	951	c.843C>T	c.(841-843)CCC>CCT	p.P281P	BAIAP2_uc002jyz.3_Silent_p.P281P|BAIAP2_uc002jza.2_Silent_p.P281P|BAIAP2_uc002jzc.2_Silent_p.P281P|BAIAP2_uc002jzb.2_Silent_p.P38P|BAIAP2_uc002jzd.2_Silent_p.P281P|BAIAP2_uc002jzf.2_Silent_p.P281P|BAIAP2_uc002jze.2_Silent_p.P314P|BAIAP2_uc010wuh.1_Silent_p.P203P|BAIAP2_uc002jzh.2_Silent_p.P282P|BAIAP2_uc010wui.1_Silent_p.P144P	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2 isoform 2	281					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding				0	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CGGTGCCCCCCGAGCTGGCAC	0.701													T	79077502	C	T	79077502	2	4	16	1	0	0	0	0	0	0	0	1	1301	639	23	1		1	BAIAP2	17	79077502	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	763528	79077502	2117708	1318	13640											
HEXDC	284004	broad.mit.edu	37	chr17	80400208	80400209	+	Frame_Shift_Ins	INS	-	-	C													gacctcagcgaggtgtctgcINSccccccgctgccacccacca							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:80400207_80400208G>GC	uc002kev.4	+	11	1913_1914	c.1497_1498G>GC	c.(1495-1500)ctgcccfs	p.L499fs	HEXDC_uc002kew.3_Frame_Shift_Ins_p.A470fs|HEXDC_uc010wvm.2_Non-coding_Transcript	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA.	0					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CGAGGTGTCTGCCCCCCCGCTG	0.688													C	80400209	-	C	80400208	7	5	16	1	0	1	1	0	0	0	0	0	7075	739	26	0	1540	0	HEXDC	17	80400208	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1322706	80400208	795002	1319	13641											
FOXK2	3607	broad.mit.edu	37	chr17	80521332	80521332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgagtctccagtgaaggcCgtacagccacacatctcgcc	9	15	3	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:80521332C>T	uc002kfn.2	+	2	693	c.522C>T	c.(520-522)GCC>GCT	p.A174A	FOXK2_uc002kfm.1_Silent_p.A174A|FOXK2_uc010diu.2_Silent_p.A174A	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	forkhead box K2	174					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CAGTGAAGGCCGTACAGCCAC	0.587													T	80521332	C	T	80521332	2	4	16	1	0	0	0	0	0	0	0	1	6015	639	23	1		1	FOXK2	17	80521332	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	121124	80521332	673878	1320	13642											
FN3K	64122	broad.mit.edu	37	chr17	80708606	80708606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacaggagcccttccttggGcaccatgcgaaggctgctca	12	13	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr17:80708606G>A	uc010wvs.1	+	6	966	c.905G>A	c.(904-906)GGC>GAC	p.G302D	TBCD_uc002kfx.1_5'Flank|TBCD_uc002kfy.1_5'Flank|TBCD_uc002kfz.2_5'Flank	NM_022158	NP_071441	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	302					fructoselysine metabolic process		fructosamine-3-kinase activity				0	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CCTTCCTTGGGCACCATGCGA	0.413													A	80708606	G	A	80708606	3	1	16	1	0	0	0	0	1	0	0	0	5963	1203	42	2	927	2	FN3K	17	80708606	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	187274	80708606	486604	1321	13643											
DLGAP1	9229	broad.mit.edu	37	chr18	3879216	3879216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctcccgggcccggctcaCggtgagcgtggaggaccagg	16	14	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:3879216C>T	uc002kmf.2	-	1	920	c.853G>A	c.(853-855)GTG>ATG	p.V285M	DLGAP1_uc010wyz.1_Missense_Mutation_p.V285M|DLGAP1_uc002kmk.2_Missense_Mutation_p.V285M|uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	285					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				GCCCGGCTCACGGTGAGCGTG	0.637													T	3879216	C	T	3879216	3	4	16	1	0	0	0	0	1	0	0	0	4559	536	19	1	2175	1	DLGAP1	18	3879216	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08		3879216	74198032	1322	13644											
TXNDC2	84203	broad.mit.edu	37	chr18	9887885	9887885	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaggccggggagaggcTggtggctgtggacttctcgg	21	7	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:9887885T>C	uc002koi.3	+	2	1858	c.1409T>C	c.(1408-1410)CTG>CCG	p.L470P	TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Missense_Mutation_p.L403P	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN	thioredoxin domain-containing 2 isoform 2	470	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			ovary(1)|pancreas(1)	2						GGGGAGAGGCTGGTGGCTGTG	0.572													C	9887885	T	C	9887885	3	2	16	1	0	0	0	0	1	0	0	0	16794	1580	55	3	1415	3	TXNDC2	18	9887885	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	6008669	9887885	68189363	1323	13645											
NAPG	8774	broad.mit.edu	37	chr18	10532792	10532792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccatgaaaataatagggCgtatctttttcaacttttaa	6	7	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:10532792C>T	uc002kon.2	+	3	436	c.209C>T	c.(208-210)GCT>GTT	p.A70V	NAPG_uc010wzr.1_5'UTR|NAPG_uc002koo.2_Intron	NM_003826	NP_003817	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment	70					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding				0						AATAATAGGGCGTATCTTTTT	0.323													T	10532792	C	T	10532792	3	4	16	1	0	0	0	0	1	0	0	0	10164	782	27	1	219	1	NAPG	18	10532792	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	644907	10532792	67544456	1324	13646											
IMPA2	3613	broad.mit.edu	37	chr18	12028085	12028085	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagaaattggccccaaacgTgaccctgcgaccctgaagct	9	14	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:12028085T>C	uc002kqp.1	+	6	748	c.534T>C	c.(532-534)CGT>CGC	p.R178R	IMPA2_uc002kqo.1_5'UTR|IMPA2_uc002kqq.1_Silent_p.R58R	NM_014214	NP_055029	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	178					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			skin(2)	2					Lithium(DB01356)	GCCCCAAACGTGACCCTGCGA	0.512													C	12028085	T	C	12028085	2	2	16	1	0	0	0	0	0	0	0	1	7723	1683	59	3		3	IMPA2	18	12028085	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	1495293	12028085	66049163	1325	13647											
SNRPD1	6632	broad.mit.edu	37	chr18	19203788	19203788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacctgtacagctggaaacGctgagtattcgaggaaataa	11	7	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:19203788G>A	uc002ktj.1	+	3	302	c.171G>A	c.(169-171)ACG>ACA	p.T57T		NM_006938	NP_008869	P62314	SMD1_HUMAN	small nuclear ribonucleoprotein D1 polypeptide	57					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding|RNA binding				0						AGCTGGAAACGCTGAGTATTC	0.388													A	19203788	G	A	19203788	2	1	16	1	0	0	0	0	0	0	0	1	14864	1074	38	1		1	SNRPD1	18	19203788	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	7175703	19203788	58873460	1326	13648											
CHST9	83539	broad.mit.edu	37	chr18	24524315	24524316	+	Frame_Shift_Ins	INS	-	-	T													gttggtgatatgttcctggaINSttttttctgtactcactgaa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:24524315_24524316insT	uc002kwd.2	-	4	415_416	c.217_218insA	c.(217-219)ATCfs	p.I73fs	C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_Intron|CHST9_uc002kwe.2_Frame_Shift_Ins_p.I73fs	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN	GalNAc-4-sulfotransferase 2	73	Lumenal (Potential).				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			ovary(2)|skin(1)	3	all_lung(6;0.0145)|Ovarian(20;0.124)					ATGTTCCTGGATTTTTTCTGTA	0.302													T	24524316	-	T	24524315	7	5	16	1	0	1	1	0	0	0	0	0	3411	333	12	0	1121	0	CHST9	18	24524315	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	5320527	24524315	53552933	1327	13649	43	2									
CHST9	83539	broad.mit.edu	37	chr18	24524316	24524317	+	Frame_Shift_Ins	INS	-	-	T													ttggtgatatgttcctggatINStttttctgtactcactgaaa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:24524315_24524316A>AT	uc002kwd.3	-	3	446_447	c.217_218T>AT	c.(217-219)atcfs	p.I73fs	CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Frame_Shift_Ins_p.I73fs|CHST9_uc021uij.1_Intron	NM_001243848	NP_001230777	Q7L1S5	CHST9_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA.	73					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|extracellular region|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					ATGTTCCTGGATTTTTTCTGTA	0.302													T	24524317	-	T	24524316	7	5	16	1	0	1	1	0	0	0	0	0	3411	1493	52	0	1122	0	CHST9	18	24524316	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1	24524316	53552932	1328	13650	43	2									
ASXL3	80816	broad.mit.edu	37	chr18	31323629	31323629	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgacagtgcaaacactAcaatttctgcttgtaatata	6	8	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:31323629A>G	uc010dmg.1	+	12	3872	c.3817A>G	c.(3817-3819)ACA>GCA	p.T1273A	ASXL3_uc002kxq.2_Missense_Mutation_p.T980A	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1273	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						TGCAAACACTACAATTTCTGC	0.388													G	31323629	A	G	31323629	3	3	16	1	0	0	0	0	1	0	0	0	1068	391	14	3	3863	3	ASXL3	18	31323629	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	6799313	31323629	46753619	1329	13651											
ASXL3	80816	broad.mit.edu	37	chr18	31325578	31325578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggcggcttccacactgaCgctggtacctcacacagaca	9	14	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:31325578C>T	uc010dmg.1	+	12	5821	c.5766C>T	c.(5764-5766)GAC>GAT	p.D1922D	ASXL3_uc002kxq.2_Silent_p.D1629D	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1922					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						TCCACACTGACGCTGGTACCT	0.547													T	31325578	C	T	31325578	2	4	16	1	0	0	0	0	0	0	0	1	1068	535	19	1		1	ASXL3	18	31325578	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1949	31325578	46751670	1330	13652											
FHOD3	80206	broad.mit.edu	37	chr18	34174816	34174816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagagtactcggagtccaacGcacctctcctaattcaggct	8	13	2	1	rs144223411		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:34174816G>A	uc002kzt.1	+	7	770	c.673G>A	c.(673-675)GCA>ACA	p.A225T	FHOD3_uc002kzr.1_Missense_Mutation_p.A225T|FHOD3_uc002kzs.1_Missense_Mutation_p.A225T|FHOD3_uc002kzu.1_Missense_Mutation_p.A50T|FHOD3_uc010dmz.1_5'UTR	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	225	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GGAGTCCAACGCACCTCTCCT	0.517													A	34174816	G	A	34174816	3	1	16	1	0	0	0	0	1	0	0	0	5883	1087	38	1	699	1	FHOD3	18	34174816	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2849238	34174816	43902432	1331	13653											
FHOD3	80206	broad.mit.edu	37	chr18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-													gcgatgagaccacggagccaCcccccagtgggtgccgggac							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:34205515_34205515AC>A	uc021uiv.1	+	9	1096	c.999_999AC>A	c.(997-999)ccafs	p.P333fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzt.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P158fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P86fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	333	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCACGGAGCCACCCCCCAGTG	0.677													-	34205516	C	-	34205516	7	5	16	1	0	1	0	1	0	0	0	0	5883	507	18	0	1038	0	FHOD3	18	34205516	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	30700	34205516	43871732	1332	13654											
KIAA1632	57724	broad.mit.edu	37	chr18	43446902	43446902	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataacttagcacactctggTacgacacaatatccacaaga	5	11	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:43446902T>C	uc002lbm.2	-	38	6582	c.6482A>G	c.(6481-6483)TAC>TGC	p.Y2161C	KIAA1632_uc010xcq.1_Missense_Mutation_p.Y715C|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.Y1036C	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	2161					autophagy						0						CACACTCTGGTACGACACAAT	0.398													C	43446902	T	C	43446902	3	2	16	1	0	0	0	0	1	0	0	0	8249	1638	57	3	1285	3	KIAA1632	18	43446902	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	9241386	43446902	34630346	1333	13655											
PSTPIP2	9050	broad.mit.edu	37	chr18	43595906	43595906	+	Splice_Site	DEL	A	A	-													agggcccgcttcagggtgctAaaaaaaacaagcacatatat							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:43595905_43595905TA>T	uc002lbp.4	-	4	309	c.213_splice	c.e4-1	p.N71_splice	PSTPIP2_uc002lbq.4_Splice_Site_p.N71_splice	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	71	FCH.					membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TTCAGGGTGCTAAAAAAAACA	0.383													-	43595906	A	-	43595906	8	5	16	1	0	1	0	1	0	0	1	0	12722	377	13	0		0	PSTPIP2	18	43595906	Splice_Site	DEL	A	TCGA-BR-4292-01A-01D-1126-08	149004	43595906	34481342	1334	13656											
ST8SIA5	29906	broad.mit.edu	37	chr18	44336460	44336460	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccggttggccgaggggtcCgcgtagcgcatcctggctac	15	14	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:44336460C>T	uc002lcj.1	-	1	580	c.12G>A	c.(10-12)GCG>GCA	p.A4A	ST8SIA5_uc010xcy.1_Silent_p.A4A|ST8SIA5_uc010xcz.1_Silent_p.A4A|ST8SIA5_uc010dno.1_Silent_p.A4A	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	4	Cytoplasmic (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						CCGAGGGGTCCGCGTAGCGCA	0.453													T	44336460	C	T	44336460	2	4	16	1	0	0	0	0	0	0	0	1	15234	639	23	1		1	ST8SIA5	18	44336460	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	740554	44336460	33740788	1335	13657											
ZBTB7C	201501	broad.mit.edu	37	chr18	45566519	45566520	+	Frame_Shift_Ins	INS	-	-	C													ccttgatgggtcccagaggcINSccccccggcaggtcagggaa					rs113275715		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:45566518_45566519G>GC	uc010dnv.3	-	2	1462_1463	c.1026_1027C>GC	c.(1024-1029)gggcctfs	p.G342fs	ZBTB7C_uc002ldb.3_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dnu.3_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dnw.3_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dnx.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dny.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dnz.1_Frame_Shift_Ins_p.G342fs|ZBTB7C_uc010doi.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doj.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dok.1_Frame_Shift_Ins_p.G369fs|ZBTB7C_uc010dol.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010doa.1_Frame_Shift_Ins_p.G342fs|ZBTB7C_uc010dob.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doc.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dod.1_Frame_Shift_Ins_p.G342fs|ZBTB7C_uc010doe.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dof.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dog.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doh.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dom.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010don.1_Frame_Shift_Ins_p.G328fs|ZBTB7C_uc010dop.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doq.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dor.1_Frame_Shift_Ins_p.G342fs|ZBTB7C_uc010dos.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dot.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doo.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dou.1_Frame_Shift_Ins_p.G329fs	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	320						intracellular	nucleic acid binding|zinc ion binding	p.L343L(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GGTCCCAGAGGCCCCCCCGGCA	0.624													C	45566520	-	C	45566519	7	5	16	1	0	1	1	0	0	0	0	0	17552	726	26	0	907	0	ZBTB7C	18	45566519	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1230059	45566519	32510729	1336	13658											
POLI	11201	broad.mit.edu	37	chr18	51820306	51820306	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgagttgtccattacatgcCtctagaggagtattatcttt	9	7	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:51820306C>A	uc002lfj.3	+	10	1760	c.1692C>A	c.(1690-1692)GCC>GCA	p.A564A	POLI_uc010xds.1_Silent_p.A485A|POLI_uc002lfk.3_Silent_p.A461A|POLI_uc010dpg.2_Silent_p.A160A	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	DNA polymerase iota	564					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			ovary(2)|kidney(1)	3				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		CATTACATGCCTCTAGAGGAG	0.353								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	51820306	C	A	51820306	2	1	16	1	0	0	0	0	0	0	0	1	12203	668	24	5		5	POLI	18	51820306	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	6253787	51820306	26256942	1337	13659											
WDR7	23335	broad.mit.edu	37	chr18	54339760	54339760	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaacacaatggcaggaaacaGccttgttctacccattgttc	7	11	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:54339760G>T	uc002lgk.1	+	2	225	c.14G>T	c.(13-15)AGC>ATC	p.S5I	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.S5I	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	5										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		GCAGGAAACAGCCTTGTTCTA	0.378													T	54339760	G	T	54339760	3	4	16	1	0	0	0	0	1	0	0	0	17317	971	34	5	16	5	WDR7	18	54339760	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2519454	54339760	23737488	1338	13660											
WDR7	23335	broad.mit.edu	37	chr18	54358513	54358513	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaatggacagacatggaccGggggggactttgtctcatca	13	8	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:54358513G>T	uc002lgk.1	+	8	995	c.784G>T	c.(784-786)GGG>TGG	p.G262W	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.G262W	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	262										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		GACATGGACCGGGGGGGACTT	0.418													T	54358513	G	T	54358513	3	4	16	1	0	0	0	0	1	0	0	0	17317	1116	39	5	810	5	WDR7	18	54358513	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	18753	54358513	23718735	1339	13661											
WDR7	23335	broad.mit.edu	37	chr18	54424292	54424292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgaagtttgcctggatcGccttggaatgctgaaacccc	12	10	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:54424292G>A	uc002lgk.1	+	15	2679	c.2468G>A	c.(2467-2469)CGC>CAC	p.R823H	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.R823H	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	823										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		TGCCTGGATCGCCTTGGAATG	0.468													A	54424292	G	A	54424292	3	1	16	1	0	0	0	0	1	0	0	0	17317	1087	38	1	2522	1	WDR7	18	54424292	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	65779	54424292	23652956	1340	13662											
WDR7	23335	broad.mit.edu	37	chr18	54424475	54424475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaacttacggagtgtcccGtgccgtcaccacacagcatc	11	14	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:54424475G>A	uc002lgk.1	+	15	2862	c.2651G>A	c.(2650-2652)CGT>CAT	p.R884H	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.R884H	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	884										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		GGAGTGTCCCGTGCCGTCACC	0.443													A	54424475	G	A	54424475	3	1	16	1	0	0	0	0	1	0	0	0	17317	1145	40	1	2705	1	WDR7	18	54424475	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	183	54424475	23652773	1341	13663											
ONECUT2	9480	broad.mit.edu	37	chr18	55104001	55104001	+	Frame_Shift_Del	DEL	C	C	-													gagctgaagcgctacagtatCccccaggcgatctttgcgca							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:55104001delC	uc002lgo.2	+	1	1085	c.1053delC	c.(1051-1053)ATCfs	p.I351fs		NM_004852	NP_004843	O95948	ONEC2_HUMAN	one cut domain, family member 2	351	CUT.				organ morphogenesis	nucleus	sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GCTACAGTATCCCCCAGGCGA	0.602													-	55104001	C	-	55104001	7	5	16	1	0	1	0	1	0	0	0	0	10869	845	30	0	1055	0	ONECUT2	18	55104001	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	679526	55104001	22973247	1342	13664											
ATP8B1	5205	broad.mit.edu	37	chr18	55371796	55371798	+	In_Frame_Del	DEL	AAG	AAG	-													aagggcattacctgtaagatAagaagagccaggaaatataa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:55371796_55371798delAAG	uc002lgw.2	-	3	382_384	c.382_384delCTT	c.(382-384)CTTdel	p.L128del	uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	128	Helical; (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				CCTGTAAGATAAGAAGAGCCAGG	0.315									Byler_disease				-	55371798	AAG	-	55371796	7	5	16	1	0	1	0	1	0	0	0	0	1194	349	13	0	3471	0	ATP8B1	18	55371796	In_Frame_Del	DEL	AAG	TCGA-BR-4292-01A-01D-1126-08	267795	55371796	22705452	1343	13665											
ALPK2	115701	broad.mit.edu	37	chr18	56246941	56246941	+	Frame_Shift_Del	DEL	A	A	-													cttcgtcatcgctttctaatAaaaaaacatgctcagtcccc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:56246941delA	uc002lhj.3	-	4	1281	c.1067delT	c.(1066-1068)TTAfs	p.L356fs		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	356							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						GCTTTCTAATAAAAAAACATG	0.478											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	56246941	A	-	56246941	7	5	16	1	0	1	0	1	0	0	0	0	545	372	13	0	5485	0	ALPK2	18	56246941	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	875145	56246941	21830307	1344	13666											
ALPK2	115701	broad.mit.edu	37	chr18	56278998	56278998	+	Frame_Shift_Del	DEL	G	G	-													atgtagataaaaaacacagcGggggcctctggggcccttcg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:56278997_56278997CG>C	uc002lhj.4	-	1	247	c.33_33CG>G	c.(31-33)ccgfs	p.P11fs		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	11	Ig-like 1.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AAAAACACAGCGGGGGCCTCT	0.453													-	56278998	G	-	56278998	7	5	16	1	0	1	0	1	0	0	0	0	545	1116	39	0	6528	0	ALPK2	18	56278998	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	32057	56278998	21798250	1345	13667											
CDH20	28316	broad.mit.edu	37	chr18	59221656	59221656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgagagcctctcccgctacGtgcctcagacgtgcgcagtg	12	15	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:59221656G>A	uc010dps.1	+	11	2146	c.2134G>A	c.(2134-2136)GTG>ATG	p.V712M	CDH20_uc002lif.2_Missense_Mutation_p.V706M	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	712	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				CTCCCGCTACGTGCCTCAGAC	0.682													A	59221656	G	A	59221656	3	1	16	1	0	0	0	0	1	0	0	0	3106	1145	40	1	2176	1	CDH20	18	59221656	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2942658	59221656	18855592	1346	13668											
RNF152	220441	broad.mit.edu	37	chr18	59483442	59483442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaagaccggggtgtgttcGgaagtgtgtggaatggcgat	18	4	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:59483442G>A	uc002lih.1	-	2	667	c.255C>T	c.(253-255)TCC>TCT	p.S85S		NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	ring finger protein 152	85					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)	1		Colorectal(73;0.186)				GGGTGTGTTCGGAAGTGTGTG	0.642													A	59483442	G	A	59483442	2	1	16	1	0	0	0	0	0	0	0	1	13453	1103	39	1		1	RNF152	18	59483442	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	261786	59483442	18593806	1347	13669											
PHLPP1	23239	broad.mit.edu	37	chr18	60645690	60645690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagccgtgcgcaacgtgcccGatgccctggctgctgccaag	13	15	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:60645690G>A	uc002lis.2	+	18	2822	c.2644G>A	c.(2644-2646)GAT>AAT	p.D882N		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	1394	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0						CAACGTGCCCGATGCCCTGGC	0.627													A	60645690	G	A	60645690	3	1	16	1	0	0	0	0	1	0	0	0	11854	1058	37	1	4246	1	PHLPP1	18	60645690	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1162248	60645690	17431558	1348	13670											
CDH19	28513	broad.mit.edu	37	chr18	64172527	64172527	+	Frame_Shift_Del	DEL	A	A	-													gttgttttaaacccaaagtcAaaaaaataaaccctgatgaa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:64172526_64172526CA>C	uc002lkc.1	-	11	1980	c.1842_1842TG>G	c.(1840-1842)ttgfs	p.L614fs	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Frame_Shift_Del_p.*491fs	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	614					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AACCCAAAGTCAAAAAAATAA	0.323													-	64172527	A	-	64172527	7	5	16	1	0	1	0	1	0	0	0	0	3104	131	5	0	481	0	CDH19	18	64172527	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	3526837	64172527	13904721	1349	13671											
TSHZ1	10194	broad.mit.edu	37	chr18	72999537	72999537	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaagcaaaggtcaccaaCggctgtaacaacctggggat	10	11	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr18:72999537C>T	uc002lly.2	+	2	2603	c.2040C>T	c.(2038-2040)AAC>AAT	p.N680N		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	725						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGGTCACCAACGGCTGTAACA	0.577													T	72999537	C	T	72999537	2	4	16	1	0	0	0	0	0	0	0	1	16620	535	19	1		1	TSHZ1	18	72999537	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	8827010	72999537	5077711	1350	13672											
PTBP1	5725	broad.mit.edu	37	chr19	804843	804843	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcagattttctccaagttCggcacagtgttgaagatcat	9	9	2	3	rs147803014		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:804843C>T	uc002lpr.2	+	7	727	c.621C>T	c.(619-621)TTC>TTT	p.F207F	PTBP1_uc002lpp.2_Silent_p.F207F|PTBP1_uc002lpq.2_Silent_p.F207F|PTBP1_uc002lps.2_Intron|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Silent_p.F177F	NM_031991	NP_114368	P26599	PTBP1_HUMAN	polypyrimidine tract-binding protein 1 isoform	207	RRM 2.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			kidney(1)|skin(1)	2		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCCAAGTTCGGCACAGTGT	0.627													T	804843	C	T	804843	2	4	16	1	0	0	0	0	0	0	0	1	12725	883	31	1		1	PTBP1	19	804843	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08		804843	58324140	1351	13673											
DAZAP1	26528	broad.mit.edu	37	chr19	1428885	1428885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggacagcaagagccaagcGccgggacagccaggtgccag	16	13	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:1428885G>A	uc002lsn.2	+	8	780	c.591G>A	c.(589-591)GCG>GCA	p.A197A	DAZAP1_uc002lsm.2_Silent_p.A197A|DAZAP1_uc002lso.2_Silent_p.A196A|DAZAP1_uc002lsl.1_Silent_p.A197A	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1 isoform b	197					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)	1		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCCAAGCGCCGGGACAGC	0.657													A	1428885	G	A	1428885	2	1	16	1	0	0	0	0	0	0	0	1	4244	1074	38	1		1	DAZAP1	19	1428885	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	624042	1428885	57700098	1352	13674											
APC2	10297	broad.mit.edu	37	chr19	1466805	1466805	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagctctgtgagctcgctgGgcagcttcgagagcccgtcc	14	14	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:1466805G>T	uc002lsr.1	+	15	3713	c.3505G>T	c.(3505-3507)GGC>TGC	p.G1169C	APC2_uc002lss.1_Missense_Mutation_p.G751C|APC2_uc002lst.1_Missense_Mutation_p.G1169C|APC2_uc002lsu.1_Missense_Mutation_p.G1168C|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1169	Interaction with CTNNB1.|2.|Ser-rich.|5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCTCGCTGGGCAGCTTCGA	0.682													T	1466805	G	T	1466805	3	4	16	1	0	0	0	0	1	0	0	0	764	1232	43	5	3559	5	APC2	19	1466805	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	37920	1466805	57662178	1353	13675											
MOBKL2A	126308	broad.mit.edu	37	chr19	2076887	2076887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttgtagcaggtgttcaCgtgggcctcggagcccatct	14	11	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:2076887C>T	uc002luu.2	-	2	706	c.547G>A	c.(547-549)GTG>ATG	p.V183M	MOBKL2A_uc002luv.2_Missense_Mutation_p.V183M	NM_130807	NP_570719	Q96BX8	MOL2A_HUMAN	MOB-LAK	183						intracellular	metal ion binding			lung(1)	1		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGTGTTCACGTGGGCCTCG	0.612													T	2076887	C	T	2076887	3	4	16	1	0	0	0	0	1	0	0	0	9684	536	19	1	114	1	MOBKL2A	19	2076887	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	610082	2076887	57052096	1354	13676											
DOT1L	84444	broad.mit.edu	37	chr19	2191141	2191141	+	Frame_Shift_Del	DEL	C	C	-													caacaactacgagcccttctCccccgaggtgtacggggaga							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:2191140_2191140TC>T	uc002lvb.4	+	4	430	c.394_394TC>T	c.(394-396)tccfs	p.S132fs		NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	132						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGCCCTTCTCCCCCGAGGT	0.602													-	2191141	C	-	2191141	7	5	16	1	0	1	0	1	0	0	0	0	4709	855	30	0	413	0	DOT1L	19	2191141	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	114254	2191141	56937842	1355	13677											
C19orf29	58509	broad.mit.edu	37	chr19	3612132	3612132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtactcgggcgtggagCgcttgtcgatgaggtcgggg	20	7	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:3612132C>T	uc002lyh.2	-	10	2119	c.2066G>A	c.(2065-2067)CGC>CAC	p.R689H	C19orf29_uc010xho.1_Missense_Mutation_p.R148H|C19orf29_uc010dtn.2_Missense_Mutation_p.R537H|C19orf29_uc002lyi.3_Missense_Mutation_p.R689H|C19orf29_uc010dto.2_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	689						catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCGTGGAGCGCTTGTCGAT	0.577													T	3612132	C	T	3612132	3	4	16	1	0	0	0	0	1	0	0	0	1918	768	27	1	214	1	C19orf29	19	3612132	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1420991	3612132	55516851	1356	13678											
PIP5K1C	23396	broad.mit.edu	37	chr19	3641788	3641788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcagatcctcttccgCgggtggctcctcctgcggcc	12	17	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:3641788C>T	uc002lyj.1	-	15	1759	c.1702G>A	c.(1702-1704)GCG>ACG	p.A568T	PIP5K1C_uc010xhq.1_Missense_Mutation_p.A568T|PIP5K1C_uc010xhr.1_Missense_Mutation_p.A568T	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	568					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TCCTCTTCCGCGGGTGGCTCC	0.637													T	3641788	C	T	3641788	3	4	16	1	0	0	0	0	1	0	0	0	11941	768	27	1	320	1	PIP5K1C	19	3641788	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	29656	3641788	55487195	1357	13679											
PIP5K1C	23396	broad.mit.edu	37	chr19	3653507	3653507	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttgttcatgaccacgacGcggatgttcttgccccccga	10	13	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:3653507G>A	uc002lyj.1	-	7	759	c.702C>T	c.(700-702)CGC>CGT	p.R234R	PIP5K1C_uc010xhq.1_Silent_p.R234R|PIP5K1C_uc010xhr.1_Silent_p.R234R	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	234	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TGACCACGACGCGGATGTTCT	0.612													A	3653507	G	A	3653507	2	1	16	1	0	0	0	0	0	0	0	1	11941	1074	38	1		1	PIP5K1C	19	3653507	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	11719	3653507	55475476	1358	13680											
TJP3	27134	broad.mit.edu	37	chr19	3736172	3736172	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccttgcaggtacagcccCgacacgcgtgtggtccgctt	11	16	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:3736172C>T	uc010xhv.1	+	10	1236	c.1236C>T	c.(1234-1236)CCC>CCT	p.P412P	TJP3_uc010xhs.1_Silent_p.P379P|TJP3_uc010xht.1_Silent_p.P343P|TJP3_uc010xhu.1_Silent_p.P388P|TJP3_uc010xhw.1_Silent_p.P398P	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	393						tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTACAGCCCCGACACGCGTG	0.662													T	3736172	C	T	3736172	2	4	16	1	0	0	0	0	0	0	0	1	15928	639	23	1		1	TJP3	19	3736172	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	82665	3736172	55392811	1359	13681											
APBA3	9546	broad.mit.edu	37	chr19	3752611	3752611	+	Frame_Shift_Del	DEL	C	C	-													gcccccgagcgctcagcaggCcccccgtgcagcaggttggc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:3752611delC	uc002lyp.1	-	8	1467	c.1290delG	c.(1288-1290)GGGfs	p.G430fs	APBA3_uc002lyo.1_Frame_Shift_Del_p.G188fs	NM_004886	NP_004877	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding,	430	PDZ 1.				intracellular signal transduction|protein transport	intracellular|membrane	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCAGCAGGCCCCCCGTGCA	0.746													-	3752611	C	-	3752611	7	5	16	1	0	1	0	1	0	0	0	0	758	726	26	0	453	0	APBA3	19	3752611	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	16439	3752611	55376372	1360	13682											
ZFR2	23217	broad.mit.edu	37	chr19	3831668	3831668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcttacccgtgtaggcGgtgcaggtggggttgtagga	18	7	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:3831668G>A	uc002lyw.2	-	4	600	c.588C>T	c.(586-588)ACC>ACT	p.T196T	ZFR2_uc010xhx.1_RNA	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	196	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CCGTGTAGGCGGTGCAGGTGG	0.627													A	3831668	G	A	3831668	2	1	16	1	0	0	0	0	0	0	0	1	17657	1103	39	1		1	ZFR2	19	3831668	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	79057	3831668	55297315	1361	13683											
PLIN4	729359	broad.mit.edu	37	chr19	4512339	4512339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggacggcccctttggccaCgttcacagcactggtcaccc	10	17	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:4512339C>T	uc002mar.1	-	3	1591	c.1591G>A	c.(1591-1593)GTG>ATG	p.V531M	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	531	27 X 33 AA approximate tandem repeat.|14.					lipid particle|plasma membrane					0						CCTTTGGCCACGTTCACAGCA	0.617													T	4512339	C	T	4512339	3	4	16	1	0	0	0	0	1	0	0	0	12092	536	19	1	2498	1	PLIN4	19	4512339	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	680671	4512339	54616644	1362	13684											
SEMA6B	10501	broad.mit.edu	37	chr19	4550844	4550844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgatcctccggcaccggcGtccagatggactcgggggac	14	15	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:4550844G>A	uc010duc.1	-	10	1126	c.1088C>T	c.(1087-1089)ACG>ATG	p.T363M	SEMA6B_uc010dud.2_Missense_Mutation_p.T363M|SEMA6B_uc010xih.1_Missense_Mutation_p.T363M	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	363	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCACCGGCGTCCAGATGGA	0.652													A	4550844	G	A	4550844	3	1	16	1	0	0	0	0	1	0	0	0	14040	1145	40	1	1606	1	SEMA6B	19	4550844	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	38505	4550844	54578139	1363	13685											
SEMA6B	10501	broad.mit.edu	37	chr19	4554436	4554436	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aactccatcgcaatctcccgGaagaagaagtagacatggct	9	11	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:4554436G>T	uc010duc.1	-	8	773	c.735C>A	c.(733-735)TTC>TTA	p.F245L	SEMA6B_uc010dud.2_Missense_Mutation_p.F245L|SEMA6B_uc010xih.1_Missense_Mutation_p.F245L	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	245	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CAATCTCCCGGAAGAAGAAGT	0.567													T	4554436	G	T	4554436	3	4	16	1	0	0	0	0	1	0	0	0	14040	1165	41	5	1967	5	SEMA6B	19	4554436	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	3592	4554436	54574547	1364	13686											
PLIN3	10226	broad.mit.edu	37	chr19	4859941	4859941	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcagacagtcttgatgtgCgggtagctctccttggtgga	14	9	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:4859941C>T	uc002mbj.2	-	3	339	c.162G>A	c.(160-162)CCG>CCA	p.P54P	PLIN3_uc002mbk.2_Silent_p.P54P|PLIN3_uc002mbl.3_Silent_p.P54P	NM_005817	NP_005808	O60664	PLIN3_HUMAN	mannose 6 phosphate receptor binding protein 1	54					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding				0					Galsulfase(DB01279)|Idursulfase(DB01271)	TCTTGATGTGCGGGTAGCTCT	0.637													T	4859941	C	T	4859941	2	4	16	1	0	0	0	0	0	0	0	1	12091	755	27	1		1	PLIN3	19	4859941	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	305505	4859941	54269042	1365	13687											
UHRF1	29128	broad.mit.edu	37	chr19	4954817	4954817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtcactcaaggaccggcCggcgagcggcagcccggtag	17	14	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:4954817C>T	uc002mbo.2	+	17	2282	c.2114C>T	c.(2113-2115)CCG>CTG	p.P705L	UHRF1_uc010xik.1_RNA|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.P718L	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	705					cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		AAGGACCGGCCGGCGAGCGGC	0.498													T	4954817	C	T	4954817	3	4	16	1	0	0	0	0	1	0	0	0	16964	643	23	1	2206	1	UHRF1	19	4954817	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	94876	4954817	54174166	1366	13688											
KDM4B	23030	broad.mit.edu	37	chr19	5131158	5131158	+	Frame_Shift_Del	DEL	C	C	-													agaagagcttcggcctgctgCccccacagctgccgcccccg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:5131158delC	uc002mbq.3	+	12	1613	c.1387delC	c.(1387-1389)CCCfs	p.P463fs	KDM4B_uc010xim.1_Frame_Shift_Del_p.P497fs|KDM4B_uc002mbr.3_Frame_Shift_Del_p.P221fs	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	463	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						CGGCCTGCTGCCCCCACAGCT	0.697													-	5131158	C	-	5131158	7	5	16	1	0	1	0	1	0	0	0	0	8129	739	26	0	1425	0	KDM4B	19	5131158	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	176341	5131158	53997825	1367	13689											
INSR	3643	broad.mit.edu	37	chr19	7122772	7122772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagggtagggggagggcGgccaggattattctaaaaca	16	5	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:7122772G>A	uc002mgd.1	-	19	3491	c.3382C>T	c.(3382-3384)CGC>TGC	p.R1128C	INSR_uc002mge.1_Missense_Mutation_p.R1116C	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	1128	Protein kinase.|Cytoplasmic (Potential).				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGGGGAGGGCGGCCAGGATTA	0.587													A	7122772	G	A	7122772	3	1	16	1	0	0	0	0	1	0	0	0	7773	1116	39	1	782	1	INSR	19	7122772	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1991614	7122772	52006211	1368	13690											
ZNF358	140467	broad.mit.edu	37	chr19	7585781	7585781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccagccctccctaccggCgagagtccagagtgggtaca	12	15	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:7585781C>T	uc002mgn.2	+	2	1823	c.1653C>T	c.(1651-1653)GGC>GGT	p.G551G	MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	551					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						TCCCTACCGGCGAGAGTCCAG	0.652													T	7585781	C	T	7585781	2	4	16	1	0	0	0	0	0	0	0	1	17864	755	27	1		1	ZNF358	19	7585781	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	463009	7585781	51543202	1369	13691											
KIAA1543	57662	broad.mit.edu	37	chr19	7682715	7682715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttccgggcgctctacacGctgtcgggggagacagagga	16	11	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:7682715G>A	uc002mgv.3	+	17	3623	c.3522G>A	c.(3520-3522)ACG>ACA	p.T1174T	KIAA1543_uc002mgu.3_Silent_p.T1201T|KIAA1543_uc002mgw.2_Silent_p.T304T	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	1174	CKK.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						CGCTCTACACGCTGTCGGGGG	0.612													A	7682715	G	A	7682715	2	1	16	1	0	0	0	0	0	0	0	1	8243	1074	38	1		1	KIAA1543	19	7682715	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	96934	7682715	51446268	1370	13692											
MAP2K7	5609	broad.mit.edu	37	chr19	7975196	7975196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgggcgagatgggcagcGgcacctgcggccaggtgtgg	19	10	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:7975196G>A	uc002mit.2	+	4	450	c.385G>A	c.(385-387)GGC>AGC	p.G129S	MAP2K7_uc002miv.2_Missense_Mutation_p.G129S|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.G129S|MAP2K7_uc010dvv.2_Missense_Mutation_p.G4S	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	129	Protein kinase.|ATP (By similarity).				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	GATGGGCAGCGGCACCTGCGG	0.672													A	7975196	G	A	7975196	3	1	16	1	0	0	0	0	1	0	0	0	9242	1116	39	1	399	1	MAP2K7	19	7975196	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	292481	7975196	51153787	1371	13693											
MAP2K7	5609	broad.mit.edu	37	chr19	7975348	7975348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtgcagcaaatgcggcGctccgggaacaaggaggaga	16	10	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:7975348G>A	uc002mit.2	+	5	523	c.458G>A	c.(457-459)CGC>CAC	p.R153H	MAP2K7_uc002miv.2_Missense_Mutation_p.R153H|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.R153H|MAP2K7_uc010dvv.2_Missense_Mutation_p.R28H	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	153	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	CAAATGCGGCGCTCCGGGAAC	0.637													A	7975348	G	A	7975348	3	1	16	1	0	0	0	0	1	0	0	0	9242	1087	38	1	476	1	MAP2K7	19	7975348	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	152	7975348	51153635	1372	13694											
MAP2K7	5609	broad.mit.edu	37	chr19	7976201	7976201	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccgggccgacgtatggagcCtgggcatctcgttggtgagt	16	10	1	1	rs56278855		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:7976201C>A	uc002mit.2	+	8	987	c.922C>A	c.(922-924)CTG>ATG	p.L308M	MAP2K7_uc002miv.2_Missense_Mutation_p.L308M|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.L308M|MAP2K7_uc010dvv.2_Missense_Mutation_p.L183M	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	308	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	CGTATGGAGCCTGGGCATCTC	0.637													A	7976201	C	A	7976201	3	1	16	1	0	0	0	0	1	0	0	0	9242	680	24	5	952	5	MAP2K7	19	7976201	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	853	7976201	51152782	1373	13695											
FBN3	84467	broad.mit.edu	37	chr19	8176641	8176641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccggtgctcctgggagacGcattcatccaggtctgcagg	13	13	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:8176641G>A	uc002mjf.2	-	31	3996	c.3975C>T	c.(3973-3975)TGC>TGT	p.C1325C		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1325	EGF-like 20; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CCTGGGAGACGCATTCATCCA	0.627													A	8176641	G	A	8176641	2	1	16	1	0	0	0	0	0	0	0	1	5704	1079	38	1		1	FBN3	19	8176641	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	200440	8176641	50952342	1374	13696											
LASS4	79603	broad.mit.edu	37	chr19	8320601	8320601	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgaccaagaagttctgTgaggccaggtaagcccagga	13	10	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:8320601T>C	uc002mjg.2	+	5	722	c.402T>C	c.(400-402)TGT>TGC	p.C134C	LASS4_uc002mjh.2_Silent_p.C83C|LASS4_uc002mji.2_5'UTR|LASS4_uc010dvz.2_Silent_p.C134C	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN	LAG1 homolog, ceramide synthase 4	134	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			ovary(1)	1						AGAAGTTCTGTGAGGCCAGGT	0.667													C	8320601	T	C	8320601	2	2	16	1	0	0	0	0	0	0	0	1	8641	1702	59	3		3	LASS4	19	8320601	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	143960	8320601	50808382	1375	13697											
HNRNPM	4670	broad.mit.edu	37	chr19	8533719	8533719	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtccacaacaacttccccGtaagtgtttcagtgattagg	9	11	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:8533719G>A	uc010dwe.2	+	9	975	c.895_splice	c.e9+1	p.H299_splice	HNRNPM_uc010dwc.1_Splice_Site_p.H299_splice|HNRNPM_uc010xke.1_Splice_Site_p.H260_splice|HNRNPM_uc010dwd.2_Splice_Site_p.H260_splice|HNRNPM_uc002mka.2_Splice_Site_p.H179_splice	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M						alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0						CAACTTCCCCGTAAGTGTTTC	0.408													A	8533719	G	A	8533719	5	1	16	1	0	0	0	0	0	0	1	0	7271	1159	40	1	930	1	HNRNPM	19	8533719	Splice_Site	SNP	G	TCGA-BR-4292-01A-01D-1126-08	213118	8533719	50595264	1376	13698											
MUC16	94025	broad.mit.edu	37	chr19	9069699	9069699	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccacagagggagggcttTgccatgacacgcccttagta	11	12	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:9069699T>C	uc002mkp.2	-	3	17951	c.17747A>G	c.(17746-17748)CAA>CGA	p.Q5916R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5918	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGGAGGGCTTTGCCATGACAC	0.493													C	9069699	T	C	9069699	3	2	16	1	0	0	0	0	1	0	0	0	9973	1812	63	3	26104	3	MUC16	19	9069699	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	535980	9069699	50059284	1377	13699											
ZNF560	147741	broad.mit.edu	37	chr19	9578164	9578164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactggtcacaatcaaagcGtttctgtcctgtgttacttc	7	11	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:9578164G>A	uc002mlp.1	-	10	1669	c.1459C>T	c.(1459-1461)CGC>TGC	p.R487C	ZNF560_uc010dwr.1_Missense_Mutation_p.R381C	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	487					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						CAATCAAAGCGTTTCTGTCCT	0.403													A	9578164	G	A	9578164	3	1	16	1	0	0	0	0	1	0	0	0	17988	1145	40	1	917	1	ZNF560	19	9578164	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	508465	9578164	49550819	1378	13700											
ZNF426	79088	broad.mit.edu	37	chr19	9639888	9639888	+	Frame_Shift_Del	DEL	T	T	-													attccttacatttgtagggcTtttttgcattgagggtttct							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:9639887_9639887CT>C	uc002mlq.3	-	7	1098	c.834_834AG>G	c.(832-834)aagfs	p.K278fs	ZNF426_uc010dws.3_Frame_Shift_Del_p.K240fs	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	Homo sapiens zinc finger protein 426 (ZNF426), mRNA.	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ATTTGTAGGGCTTTTTTGCAT	0.423													-	9639888	T	-	9639888	7	5	16	1	0	1	0	1	0	0	0	0	17897	1609	56	0	835	0	ZNF426	19	9639888	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	61724	9639888	49489095	1379	13701											
FBXL12	54850	broad.mit.edu	37	chr19	9922291	9922291	+	Frame_Shift_Del	DEL	G	G	-													caacagagcaggggacaactGgggggcctgggagccagaga							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:9922290_9922290TG>T	uc002mme.3	-	2	505	c.263_263CA>A	c.(262-264)cagfs	p.Q88fs	FBXL12_uc002mmd.3_Frame_Shift_Del_p.Q35fs|FBXL12_uc002mmf.3_Frame_Shift_Del_p.Q35fs|FBXL12_uc002mmg.3_Frame_Shift_Del_p.Q35fs	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.	88							protein binding	p.Q88fs*7(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						AGGGGACAACTGGGGGGCCTG	0.632													-	9922291	G	-	9922291	7	5	16	1	0	1	0	1	0	0	0	0	5708	1357	47	0	722	0	FBXL12	19	9922291	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	282403	9922291	49206692	1380	13702											
COL5A3	50509	broad.mit.edu	37	chr19	10114729	10114729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactcaccactgtggctgcCggtgccaggttgtcacagtc	11	14	3	0	rs140294240	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:10114729C>T	uc002mmq.1	-	5	773	c.687G>A	c.(685-687)CCG>CCA	p.P229P		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	229	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			CTGTGGCTGCCGGTGCCAGGT	0.577													T	10114729	C	T	10114729	2	4	16	1	0	0	0	0	0	0	0	1	3698	639	23	1		1	COL5A3	19	10114729	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	192438	10114729	49014254	1381	13703											
ILF3	3609	broad.mit.edu	37	chr19	10793819	10793819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacgtaaaacagcaggggCcgatcctgacaaagcacggc	12	11	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:10793819C>T	uc002mpn.2	+	14	1872	c.1555C>T	c.(1555-1557)CCG>TCG	p.P519S	ILF3_uc002mpm.2_Missense_Mutation_p.P523S|ILF3_uc002mpl.2_Missense_Mutation_p.P519S|ILF3_uc002mpk.2_Missense_Mutation_p.P519S|ILF3_uc010xli.1_Missense_Mutation_p.P117S|ILF3_uc002mpo.2_Missense_Mutation_p.P523S|ILF3_uc002mpp.2_Missense_Mutation_p.P344S|ILF3_uc002mpq.2_5'Flank	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	519					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			ACAGCAGGGGCCGATCCTGAC	0.562													T	10793819	C	T	10793819	3	4	16	1	0	0	0	0	1	0	0	0	7712	739	26	2	1617	2	ILF3	19	10793819	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	679090	10793819	48335164	1382	13704											
TMED1	11018	broad.mit.edu	37	chr19	10943787	10943787	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagttgacccgctccaAgttgccctcttgcaggttgc	10	14	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:10943787A>C	uc002mpy.2	-	4	684	c.568T>G	c.(568-570)TTG>GTG	p.L190V	DNM2_uc002mpx.1_3'UTR	NM_006858	NP_006849	Q13445	TMED1_HUMAN	interleukin 1 receptor-like 1 ligand precursor	190	Extracellular (Potential).				cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding			ovary(2)|breast(1)|central_nervous_system(1)	4						ACCCGCTCCAAGTTGCCCTCT	0.627													C	10943787	A	C	10943787	3	2	16	1	0	0	0	0	1	0	0	0	15999	69	3	5	119	5	TMED1	19	10943787	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	149968	10943787	48185196	1383	13705											
ZNF440	126070	broad.mit.edu	37	chr19	11942182	11942182	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgcttctcatttttgacaGgagtctcatagaagaaaaag	8	6	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:11942182G>A	uc002msp.1	+	4	348	c.192_splice	c.e4-1	p.R64_splice		NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	zinc finger protein 440						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATTTTTGACAGGAGTCTCATA	0.343													A	11942182	G	A	11942182	5	1	16	1	0	0	0	0	0	0	1	0	17910	1014	35	4	205	4	ZNF440	19	11942182	Splice_Site	SNP	G	TCGA-BR-4292-01A-01D-1126-08	998395	11942182	47186801	1384	13706											
ZNF709	163051	broad.mit.edu	37	chr19	12574828	12574828	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggttactctccactatgaacTctttcatgtattcgaaagga	7	9	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:12574828T>A	uc002mtv.3	-	4	2069	c.1908A>T	c.(1906-1908)AGA>AGT	p.R636S	ZNF709_uc002mtw.3_Missense_Mutation_p.R604S|ZNF709_uc002mtx.3_Missense_Mutation_p.R636S	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	zinc finger protein 709 isoform a	636	C2H2-type 19.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CACTATGAACTCTTTCATGTA	0.323													A	12574828	T	A	12574828	3	1	16	1	0	0	0	0	1	0	0	0	18110	1548	54	5	21	5	ZNF709	19	12574828	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	632646	12574828	46554155	1385	13707											
MAST1	22983	broad.mit.edu	37	chr19	12963047	12963047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccagctgggcctcacccGtgacccctttccaggtgccg	11	19	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:12963047G>A	uc002mvm.2	+	9	1123	c.995G>A	c.(994-996)CGT>CAT	p.R332H	MAST1_uc002mvk.2_Missense_Mutation_p.R328H	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	332					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						GGCCTCACCCGTGACCCCTTT	0.662													A	12963047	G	A	12963047	3	1	16	1	0	0	0	0	1	0	0	0	9324	1145	40	1	1029	1	MAST1	19	12963047	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	388219	12963047	46165936	1386	13708											
NFIX	4784	broad.mit.edu	37	chr19	13192651	13192651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtgtgctcggatggctcGggccaggccaccggacaggt	16	11	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:13192651G>A	uc010xmx.1	+	8	1313	c.1260G>A	c.(1258-1260)TCG>TCA	p.S420S	NFIX_uc002mwd.2_Silent_p.S412S|NFIX_uc002mwe.2_Silent_p.S404S|NFIX_uc002mwf.2_Silent_p.S374S|NFIX_uc002mwg.1_Silent_p.S411S			Q14938	NFIX_HUMAN	RecName: Full=Nuclear factor 1;	412					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CGGATGGCTCGGGCCAGGCCA	0.622											OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	13192651	G	A	13192651	2	1	16	1	0	0	0	0	0	0	0	1	10374	1103	39	1		1	NFIX	19	13192651	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	229604	13192651	45936332	1387	13709											
TRMT1	55621	broad.mit.edu	37	chr19	13223783	13223783	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggggtccagatcgatgacGtcaaacctctccgacaccct	9	14	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:13223783G>A	uc002mwj.2	-	5	934	c.684C>T	c.(682-684)GAC>GAT	p.D228D	TRMT1_uc002mwk.2_Silent_p.D228D|TRMT1_uc002mwl.3_Silent_p.D228D|TRMT1_uc010xmz.1_Silent_p.D14D	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	228							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GATCGATGACGTCAAACCTCT	0.622													A	13223783	G	A	13223783	2	1	16	1	0	0	0	0	0	0	0	1	16558	1136	40	1		1	TRMT1	19	13223783	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	31132	13223783	45905200	1388	13710											
OR1I1	126370	broad.mit.edu	37	chr19	15198125	15198125	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accgtccccaagatgctagcGaacatccaggctcagagcag	10	14	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:15198125G>A	uc010xoe.1	+	1	249	c.249G>A	c.(247-249)GCG>GCA	p.A83A		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I,	83	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3						AGATGCTAGCGAACATCCAGG	0.552													A	15198125	G	A	15198125	2	1	16	1	0	0	0	0	0	0	0	1	10958	1045	37	1		1	OR1I1	19	15198125	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1974342	15198125	43930858	1389	13711											
CYP4F12	66002	broad.mit.edu	37	chr19	15806782	15806782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccttcctgaccatgtgCgtgaaggagagcctgaggtt	13	11	0	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:15806782C>T	uc002nbl.2	+	10	1213	c.1152C>T	c.(1150-1152)TGC>TGT	p.C384C		NM_023944	NP_076433			cytochrome P450, family 4, subfamily F,									p.C384C(1)		skin(3)|ovary(2)|central_nervous_system(2)	7	Acute lymphoblastic leukemia(2;0.0367)					TGACCATGTGCGTGAAGGAGA	0.557													T	15806782	C	T	15806782	2	4	16	1	0	0	0	0	0	0	0	1	4187	776	27	1		1	CYP4F12	19	15806782	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	608657	15806782	43322201	1390	13712											
EPS15L1	58513	broad.mit.edu	37	chr19	16535966	16535966	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgacgctgccgtgggaCggcgtggagcggaggctgtc	19	11	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:16535966C>T	uc002ndz.1	-	9	726	c.720G>A	c.(718-720)CCG>CCA	p.P240P	EPS15L1_uc002ndx.2_Silent_p.P240P|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.P130P|EPS15L1_uc010xpf.1_Silent_p.P143P|EPS15L1_uc002nea.1_Silent_p.P240P|EPS15L1_uc010eah.1_Silent_p.P240P|EPS15L1_uc002neb.1_Silent_p.P86P|EPS15L1_uc002nec.1_Silent_p.P240P	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway	240					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)|skin(2)	5						TGCCGTGGGACGGCGTGGAGC	0.662													T	16535966	C	T	16535966	2	4	16	1	0	0	0	0	0	0	0	1	5193	523	19	1		1	EPS15L1	19	16535966	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	729184	16535966	42593017	1391	13713											
NWD1	284434	broad.mit.edu	37	chr19	16918583	16918583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcaactgcatgtccctgaGcaagtgcgaggaccgcctgg	12	12	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:16918583G>A	uc002neu.3	+	18	4345	c.3923G>A	c.(3922-3924)AGC>AAC	p.S1308N	NWD1_uc002net.3_Missense_Mutation_p.S1173N|NWD1_uc002nev.3_Missense_Mutation_p.S1102N			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	1308							ATP binding			skin(3)|ovary(2)|pancreas(2)	7						ATGTCCCTGAGCAAGTGCGAG	0.612													A	16918583	G	A	16918583	3	1	16	1	0	0	0	0	1	0	0	0	10781	971	34	2	3572	2	NWD1	19	16918583	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	382617	16918583	42210400	1392	13714											
FCHO1	23149	broad.mit.edu	37	chr19	17893892	17893892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcgtgcgtgtgttcagCgggaccccaccaccacctgt	12	15	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:17893892C>T	uc010ebb.2	+	23	2193	c.2004C>T	c.(2002-2004)AGC>AGT	p.S668S	FCHO1_uc002nhg.3_Silent_p.S668S|FCHO1_uc002nhh.2_Silent_p.S668S|FCHO1_uc010xpw.1_Silent_p.S618S|FCHO1_uc002nhi.2_Silent_p.S124S|FCHO1_uc002nhj.2_Silent_p.S12S	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN	FCH domain only 1 isoform b	668										breast(1)	1						GTGTGTTCAGCGGGACCCCAC	0.592													T	17893892	C	T	17893892	2	4	16	1	0	0	0	0	0	0	0	1	5787	767	27	1		1	FCHO1	19	17893892	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	975309	17893892	41235091	1393	13715											
LSM4	25804	broad.mit.edu	37	chr19	18420588	18420588	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctcctccttgaccatgtcGatgatctcgtcggggatgcg	11	13	1	2	rs138296949	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:18420588G>A	uc002niq.2	-	4	399	c.228C>T	c.(226-228)ATC>ATT	p.I76I		NM_012321	NP_036453	Q9Y4Z0	LSM4_HUMAN	U6 snRNA-associated Sm-like protein 4	76					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|U6 snRNP	protein binding|RNA binding				0						TGACCATGTCGATGATCTCGT	0.677													A	18420588	G	A	18420588	2	1	16	1	0	0	0	0	0	0	0	1	9058	1048	37	1		1	LSM4	19	18420588	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	526696	18420588	40708395	1394	13716											
TMEM161A	54929	broad.mit.edu	37	chr19	19240983	19240983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accaggctccaggcccagctCgagggtctcctcccgcacca	10	19	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:19240983C>T	uc002nlg.2	-	6	607	c.577G>A	c.(577-579)GAG>AAG	p.E193K	TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Missense_Mutation_p.E168K|TMEM161A_uc002nli.2_Intron|TMEM161A_uc002nlj.2_Missense_Mutation_p.E68K	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	transmembrane protein 161A precursor	193	Cytoplasmic (Potential).				cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)	2			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			AGGCCCAGCTCGAGGGTCTCC	0.632													T	19240983	C	T	19240983	3	4	16	1	0	0	0	0	1	0	0	0	16073	893	31	1	890	1	TMEM161A	19	19240983	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	820395	19240983	39888000	1395	13717											
NCAN	1463	broad.mit.edu	37	chr19	19338309	19338310	+	Frame_Shift_Ins	INS	-	-	C													gcattccctgtggccacctcINScccagatctccctatgatgg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:19338308_19338309T>TC	uc002nlz.3	+	7	1978_1979	c.1879_1880T>TC	c.(1879-1881)tccfs	p.S627fs	NCAN_uc010ecc.1_Frame_Shift_Ins_p.S191fs	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	627					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TGTGGCCACCTCCCCAGATCTC	0.629													C	19338310	-	C	19338309	7	5	16	1	0	1	1	0	0	0	0	0	10204	855	30	0	1906	0	NCAN	19	19338309	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	97326	19338309	39790674	1396	13718											
SF4	57794	broad.mit.edu	37	chr19	19391027	19391027	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagctgcttcttctgggcGtctgaaagctctgtgacgcc	11	12	5	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:19391027G>A	uc002nmh.2	-	9	1319	c.1317C>T	c.(1315-1317)GAC>GAT	p.D439D	SF4_uc002nmf.2_Translation_Start_Site|SF4_uc002nmg.2_Translation_Start_Site|SF4_uc002nmi.2_Silent_p.D229D|SF4_uc002nmj.2_Silent_p.D229D|SF4_uc002nme.2_Translation_Start_Site	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	splicing factor 4	439					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding				0						TCTTCTGGGCGTCTGAAAGCT	0.592													A	19391027	G	A	19391027	2	1	16	1	0	0	0	0	0	0	0	1	14155	1136	40	1		1	SF4	19	19391027	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	52718	19391027	39737956	1397	13719											
ZNF208	7757	broad.mit.edu	37	chr19	22154680	22154680	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catttgtagggtttttctccAgcatgagttgccttatgttc	9	8	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:22154680A>C	uc002nqp.2	-	6	2921	c.2772T>G	c.(2770-2772)GCT>GCG	p.A924A	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTTTTTCTCCAGCATGAGTTG	0.453													C	22154680	A	C	22154680	2	2	16	1	0	0	0	0	0	0	0	1	17763	175	7	5		5	ZNF208	19	22154680	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	2763653	22154680	36974303	1398	13720											
ZNF676	163223	broad.mit.edu	37	chr19	22363176	22363176	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacattcttcacatttgtagGgtttctctccagcatgaatt	6	10	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:22363176G>C	uc002nqs.1	-	3	1661	c.1343C>G	c.(1342-1344)CCC>CGC	p.P448R		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACATTTGTAGGGTTTCTCTCC	0.433													C	22363176	G	C	22363176	3	2	16	1	0	0	0	0	1	0	0	0	18080	1232	43	5	427	5	ZNF676	19	22363176	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	208496	22363176	36765807	1399	13721											
TSHZ3	57616	broad.mit.edu	37	chr19	31769550	31769550	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatgcacttcaggatctgCgacttccgggcctcaaagtg	10	13	3	0	rs148943651		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:31769550C>T	uc002nsy.3	-	2	1214	c.1149G>A	c.(1147-1149)TCG>TCA	p.S383S		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	383					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					TCAGGATCTGCGACTTCCGGG	0.547													T	31769550	C	T	31769550	2	4	16	1	0	0	0	0	0	0	0	1	16622	755	27	1		1	TSHZ3	19	31769550	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	9406374	31769550	27359433	1400	13722											
RHPN2	85415	broad.mit.edu	37	chr19	33482843	33482843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcttcgaggaggcgtccaCcgcttgttagccgaaaacac	11	12	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:33482843C>T	uc002nuf.2	-	13	1596	c.1530G>A	c.(1528-1530)CGG>CGA	p.R510R	RHPN2_uc010xro.1_Silent_p.R359R|RHPN2_uc002nue.2_Silent_p.R240R	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	510					signal transduction	perinuclear region of cytoplasm	protein binding			central_nervous_system(5)|ovary(1)	6	Esophageal squamous(110;0.137)					GAGGCGTCCACCGCTTGTTAG	0.532													T	33482843	C	T	33482843	2	4	16	1	0	0	0	0	0	0	0	1	13351	494	18	4		4	RHPN2	19	33482843	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1713293	33482843	25646140	1401	13723											
PEPD	5184	broad.mit.edu	37	chr19	33968960	33968960	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccgtactcaccactcaacGatctctgggtgaagaatggt	11	11	3	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:33968960G>A	uc002nur.3	-	7	675	c.540C>T	c.(538-540)ATC>ATT	p.I180I	PEPD_uc010xrr.1_Silent_p.I180I|PEPD_uc010xrs.1_Silent_p.I116I	NM_000285	NP_000276	P12955	PEPD_HUMAN	prolidase isoform 1	180					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			ovary(2)	2	Esophageal squamous(110;0.137)					ACCACTCAACGATCTCTGGGT	0.512													A	33968960	G	A	33968960	2	1	16	1	0	0	0	0	0	0	0	1	11728	1048	37	1		1	PEPD	19	33968960	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	486117	33968960	25160023	1402	13724											
GPI	2821	broad.mit.edu	37	chr19	34890536	34890536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgcttggagccttggtcGgtgagtgagtaggggaaagg	18	5	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:34890536G>A	uc002nvg.1	+	16	1577	c.1474G>A	c.(1474-1476)GCC>ACC	p.A492T	GPI_uc002nvf.2_Missense_Mutation_p.A531T|GPI_uc010xrv.1_Missense_Mutation_p.A503T|GPI_uc010xrw.1_Missense_Mutation_p.A464T|GPI_uc010edl.1_Intron|GPI_uc002nvi.1_Missense_Mutation_p.A155T	NM_000175	NP_000166	P06744	G6PI_HUMAN	glucose phosphate isomerase	492					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			ovary(1)|kidney(1)	2	Esophageal squamous(110;0.162)					AGCCTTGGTCGGTGAGTGAGT	0.517													A	34890536	G	A	34890536	3	1	16	1	0	0	0	0	1	0	0	0	6611	1130	39	1	1657	1	GPI	19	34890536	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	921576	34890536	24238447	1403	13725											
GRAMD1A	57655	broad.mit.edu	37	chr19	35514240	35514240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcacagcctggccctgGccaaggggtgagtgggtagc	17	12	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:35514240G>A	uc010xse.1	+	18	2091	c.1954G>A	c.(1954-1956)GCC>ACC	p.A652T	GRAMD1A_uc002nxk.2_Missense_Mutation_p.A641T|GRAMD1A_uc002nxl.2_Missense_Mutation_p.A414T|GRAMD1A_uc010xsf.1_Missense_Mutation_p.A653T|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Missense_Mutation_p.A263T	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	652						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCTGGCCCTGGCCAAGGGGTG	0.642													A	35514240	G	A	35514240	3	1	16	1	0	0	0	0	1	0	0	0	6747	1203	42	2	2024	2	GRAMD1A	19	35514240	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	623704	35514240	23614743	1404	13726											
USF2	7392	broad.mit.edu	37	chr19	35761384	35761384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccttcagcaatggtggcaGtccggcggccgaggctgtca	14	13	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:35761384G>A	uc002nyq.1	+	5	573	c.464G>A	c.(463-465)AGT>AAT	p.S155N	USF2_uc010xss.1_Missense_Mutation_p.S155N|USF2_uc002nyr.1_Missense_Mutation_p.S88N|USF2_uc002nys.1_5'UTR|USF2_uc002nyt.1_Intron|USF2_uc002nyu.1_5'UTR|USF2_uc002nyv.1_5'UTR	NM_003367	NP_003358	Q15853	USF2_HUMAN	upstream stimulatory factor 2 isoform 1	155					lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity				0	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AATGGTGGCAGTCCGGCGGCC	0.592													A	35761384	G	A	35761384	3	1	16	1	0	0	0	0	1	0	0	0	17030	1029	36	4	482	4	USF2	19	35761384	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	247144	35761384	23367599	1405	13727											
USF2	7392	broad.mit.edu	37	chr19	35761690	35761690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaggacgatcgccccccGgacacacccttactctccgt	8	18	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:35761690G>A	uc002nyq.1	+	6	759	c.650G>A	c.(649-651)CGG>CAG	p.R217Q	USF2_uc010xss.1_Missense_Mutation_p.R217Q|USF2_uc002nyr.1_Missense_Mutation_p.R150Q|USF2_uc002nys.1_Missense_Mutation_p.R19Q|USF2_uc002nyt.1_Missense_Mutation_p.R86Q|USF2_uc002nyu.1_Missense_Mutation_p.R19Q|USF2_uc002nyv.1_Missense_Mutation_p.R19Q	NM_003367	NP_003358	Q15853	USF2_HUMAN	upstream stimulatory factor 2 isoform 1	217					lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity				0	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ATCGCCCCCCGGACACACCCT	0.582													A	35761690	G	A	35761690	3	1	16	1	0	0	0	0	1	0	0	0	17030	1116	39	1	672	1	USF2	19	35761690	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	306	35761690	23367293	1406	13728											
CD22	933	broad.mit.edu	37	chr19	35828791	35828791	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctggctcaaggatgggacCtcgctgaagaagcagaatac	12	10	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:35828791C>A	uc010edt.2	+	5	929	c.852C>A	c.(850-852)ACC>ACA	p.T284T	CD22_uc010xst.1_Silent_p.T112T|CD22_uc010edu.2_Silent_p.T284T|CD22_uc010edv.2_Silent_p.T284T|CD22_uc002nzb.3_Intron|CD22_uc010edx.2_RNA	NM_001771	NP_001762	P20273	CD22_HUMAN	CD22 molecule precursor	284	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion		protein binding|sugar binding			ovary(5)|lung(3)|breast(1)	9	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AGGATGGGACCTCGCTGAAGA	0.577													A	35828791	C	A	35828791	2	1	16	1	0	0	0	0	0	0	0	1	2985	668	24	5		5	CD22	19	35828791	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	67101	35828791	23300192	1407	13729											
MLL4	9757	broad.mit.edu	37	chr19	36223276	36223276	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccctcagctcagggtgccCcctcctacctcagtcgtcac	7	20	4	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:36223276C>A	uc010eei.2	+	29	5826	c.5826C>A	c.(5824-5826)CCC>CCA	p.P1942P		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1942					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCAGGGTGCCCCCTCCTACCT	0.687													A	36223276	C	A	36223276	2	1	16	1	0	0	0	0	0	0	0	1	9623	610	22	5		5	MLL4	19	36223276	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	394485	36223276	22905707	1408	13730											
NFKBID	84807	broad.mit.edu	37	chr19	36387021	36387021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggatggccgtgtggagcGgggtgaggcctgcagaatgg	20	8	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:36387021G>A	uc002oci.1	-	9	1041	c.467C>T	c.(466-468)CCG>CTG	p.P156L	NFKBID_uc002och.1_5'UTR|NFKBID_uc002ocj.1_Missense_Mutation_p.P171L	NM_139239	NP_640332	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene	156	ANK 4.				inflammatory response	nucleus					0						CGTGTGGAGCGGGGTGAGGCC	0.647													A	36387021	G	A	36387021	3	1	16	1	0	0	0	0	1	0	0	0	10379	1116	39	1	490	1	NFKBID	19	36387021	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	163745	36387021	22741962	1409	13731											
CLIP3	25999	broad.mit.edu	37	chr19	36508783	36508783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcttcccgtagaagcgcaCgatcccctgcttctggcccg	10	16	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:36508783C>T	uc010eeq.1	-	9	1576	c.1294G>A	c.(1294-1296)GTG>ATG	p.V432M	uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.V432M	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	432					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TAGAAGCGCACGATCCCCTGC	0.642													T	36508783	C	T	36508783	3	4	16	1	0	0	0	0	1	0	0	0	3534	536	19	1	369	1	CLIP3	19	36508783	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	121762	36508783	22620200	1410	13732											
ZNF568	374900	broad.mit.edu	37	chr19	37441545	37441545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgacaccagagaattcataCgggtgagaaaccctatgcat	9	10	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:37441545C>T	uc002ofc.2	+	7	2005	c.1490C>T	c.(1489-1491)ACG>ATG	p.T497M	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.T421M|ZNF568_uc010efe.2_Missense_Mutation_p.T421M|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAATTCATACGGGTGAGAAA	0.388													T	37441545	C	T	37441545	3	4	16	1	0	0	0	0	1	0	0	0	17996	536	19	1	1508	1	ZNF568	19	37441545	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	932762	37441545	21687438	1411	13733											
ZNF420	147923	broad.mit.edu	37	chr19	37618976	37618976	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggattcatactggtgaaaaAccctataaatgtgaagaatg	9	5	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:37618976A>C	uc002ofl.2	+	5	1298	c.1083A>C	c.(1081-1083)AAA>AAC	p.K361N		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGGTGAAAAACCCTATAAAT	0.418													C	37618976	A	C	37618976	3	2	16	1	0	0	0	0	1	0	0	0	17894	40	2	5	1093	5	ZNF420	19	37618976	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	177431	37618976	21510007	1412	13734											
ZNF527	84503	broad.mit.edu	37	chr19	37879380	37879380	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctacatcagggaaatgcGgagaggcatttcatgcaagt	13	7	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:37879380G>A	uc010efk.1	+	5	540	c.429G>A	c.(427-429)GCG>GCA	p.A143A	ZNF527_uc002ogf.3_Silent_p.A111A|ZNF527_uc010xtq.1_RNA	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	zinc finger protein 527	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGGAAATGCGGAGAGGCATT	0.428													A	37879380	G	A	37879380	2	1	16	1	0	0	0	0	0	0	0	1	17965	1103	39	1		1	ZNF527	19	37879380	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	260404	37879380	21249603	1413	13735											
YIF1B	90522	broad.mit.edu	37	chr19	38798088	38798088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaacacaaagatggctaCgcagcaccagcccagcacca	8	15	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:38798088C>T	uc002ohz.2	-	7	818	c.769G>A	c.(769-771)GTA>ATA	p.V257I	YIF1B_uc002ohw.2_Missense_Mutation_p.V226I|YIF1B_uc002ohx.2_Missense_Mutation_p.V242I|YIF1B_uc010xtx.1_Missense_Mutation_p.V240I|YIF1B_uc010xty.1_Missense_Mutation_p.V226I|YIF1B_uc002oia.2_Missense_Mutation_p.V254I|YIF1B_uc002ohy.2_Missense_Mutation_p.V254I|YIF1B_uc002oib.2_Missense_Mutation_p.V254I	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B isoform 5	257	Helical; (Potential).					integral to membrane					0	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAGATGGCTACGCAGCACCAG	0.622													T	38798088	C	T	38798088	3	4	16	1	0	0	0	0	1	0	0	0	17473	536	19	1	264	1	YIF1B	19	38798088	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	918708	38798088	20330895	1414	13736											
PSMD8	5714	broad.mit.edu	37	chr19	38873894	38873894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatccctcctttcctgcagcGagggtgggtcctgggcccca	12	15	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:38873894G>A	uc002oii.3	+	7	969	c.917G>A	c.(916-918)CGA>CAA	p.R306Q		NM_002812	NP_002803	P48556	PSMD8_HUMAN	proteasome 26S non-ATPase subunit 8	306					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome regulatory particle	protein binding			central_nervous_system(1)	1	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTCCTGCAGCGAGGGTGGGTC	0.567													A	38873894	G	A	38873894	3	1	16	1	0	0	0	0	1	0	0	0	12704	1072	37	1	943	1	PSMD8	19	38873894	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	75806	38873894	20255089	1415	13737											
RYR1	6261	broad.mit.edu	37	chr19	39068584	39068584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaaacatggggacatctaCgggcgggagcggattgctga	16	8	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:39068584C>T	uc002oit.2	+	98	14329	c.14199C>T	c.(14197-14199)TAC>TAT	p.Y4733Y	RYR1_uc002oiu.2_Silent_p.Y4728Y	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4733					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGGACATCTACGGGCGGGAGC	0.607													T	39068584	C	T	39068584	2	4	16	1	0	0	0	0	0	0	0	1	13768	547	19	1		1	RYR1	19	39068584	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	194690	39068584	20060399	1416	13738											
PLEKHG2	64857	broad.mit.edu	37	chr19	39913533	39913533	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggggccttccccactccaCgtcctggaagggctcgaaag	13	15	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:39913533C>T	uc010xuz.1	+	18	2164	c.1839C>T	c.(1837-1839)CAC>CAT	p.H613H	PLEKHG2_uc010xuy.1_Silent_p.H554H|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Silent_p.H391H	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	613					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCCACTCCACGTCCTGGAAG	0.577													T	39913533	C	T	39913533	2	4	16	1	0	0	0	0	0	0	0	1	12069	535	19	1		1	PLEKHG2	19	39913533	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	844949	39913533	19215450	1417	13739											
PSMC4	5704	broad.mit.edu	37	chr19	40480654	40480655	+	Frame_Shift_Ins	INS	-	-	C													gtttcagatcggcatcgatcINSccccccgaggcgtcctcatg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:40480653_40480654T>TC	uc002omq.3	+	5	628_629	c.591_592T>TC	c.(589-594)gatcccfs	p.D197fs	PSMC4_uc002omr.3_Frame_Shift_Ins_p.D166fs	NM_006503	NP_006494	P43686	PRS6B_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA.	197					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCGGCATCGATCCCCCCCGAGG	0.614													C	40480655	-	C	40480654	7	5	16	1	0	1	1	0	0	0	0	0	12689	855	30	0	614	0	PSMC4	19	40480654	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	567121	40480654	18648329	1418	13740											
PSMC4	5704	broad.mit.edu	37	chr19	40485741	40485741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgcattcatccgggtcGtgggctcggagtttgtacag	14	10	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:40485741G>A	uc002omq.2	+	7	728	c.691G>A	c.(691-693)GTG>ATG	p.V231M	PSMC4_uc002omr.2_Missense_Mutation_p.V200M	NM_006503	NP_006494	P43686	PRS6B_HUMAN	proteasome 26S ATPase subunit 4 isoform 1	231					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			ovary(1)	1	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CATCCGGGTCGTGGGCTCGGA	0.552													A	40485741	G	A	40485741	3	1	16	1	0	0	0	0	1	0	0	0	12689	1145	40	1	717	1	PSMC4	19	40485741	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	5087	40485741	18643242	1419	13741											
AKT2	208	broad.mit.edu	37	chr19	40747883	40747883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccgcaggatcttcatggCgtagtagcggccagtggcct	13	12	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:40747883C>T	uc002onf.2	-	6	797	c.535G>A	c.(535-537)GCC>ACC	p.A179T	AKT2_uc010egs.2_Missense_Mutation_p.A179T|AKT2_uc010egt.2_Missense_Mutation_p.A117T|AKT2_uc010xvj.1_Missense_Mutation_p.A117T|AKT2_uc010egu.1_Missense_Mutation_p.A117T|AKT2_uc010xvk.1_Missense_Mutation_p.A179T|AKT2_uc002one.2_Missense_Mutation_p.A75T	NM_001626	NP_001617	P31751	AKT2_HUMAN	AKT2 kinase	179	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2			Lung(22;0.000499)			ATCTTCATGGCGTAGTAGCGG	0.592			A		ovarian|pancreatic 								T	40747883	C	T	40747883	3	4	16	1	0	0	0	0	1	0	0	0	480	768	27	1	946	1	AKT2	19	40747883	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	262142	40747883	18381100	1420	13742											
C19orf47	126526	broad.mit.edu	37	chr19	40834366	40834366	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttgttggacacagtgacCgagatcttggaggtgctggt	14	7	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:40834366C>T	uc002oni.3	-	6	505	c.504G>A	c.(502-504)TCG>TCA	p.S168S	C19orf47_uc002ong.2_Silent_p.S27S|C19orf47_uc002onh.2_Silent_p.S101S	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	hypothetical protein LOC126526	168										ovary(1)|skin(1)	2			Lung(22;0.000636)			ACACAGTGACCGAGATCTTGG	0.607													T	40834366	C	T	40834366	2	4	16	1	0	0	0	0	0	0	0	1	1930	639	23	1		1	C19orf47	19	40834366	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	86483	40834366	18294617	1421	13743											
SHKBP1	92799	broad.mit.edu	37	chr19	41083179	41083181	+	In_Frame_Del	DEL	CTT	CTT	-													ctcacctggatcccagactcCttcttctccaggtgatcggg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:41083178_41083180CCTT>C	uc002oob.3	+	1	177_179	c.128_130CCTT>C	c.(127-132)tccttc>tCtc	p.F45del	SHKBP1_uc002ooc.3_In_Frame_Del_p.F45del|SHKBP1_uc010xvl.1_5'UTR|SHKBP1_uc002ooe.3_5'UTR|SHKBP1_uc010xvm.2_5'Flank|SHKBP1_uc010xvn.2_5'Flank	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	45	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATCCCAGACTCCTTCTTCTCCAG	0.611													-	41083181	CTT	-	41083179	7	5	16	1	0	1	0	1	0	0	0	0	14284	668	24	0	135	0	SHKBP1	19	41083179	In_Frame_Del	DEL	CTT	TCGA-BR-4292-01A-01D-1126-08	248813	41083179	18045804	1422	13744											
LTBP4	8425	broad.mit.edu	37	chr19	41135394	41135394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccttccgctgcatctgccGcccgggattcgcacccacgc	9	20	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:41135394G>A	uc002ooh.1	+	34	4814	c.4814G>A	c.(4813-4815)CGC>CAC	p.R1605H	LTBP4_uc002oog.1_Missense_Mutation_p.R1568H|LTBP4_uc002ooi.1_Missense_Mutation_p.R1538H|LTBP4_uc002ooj.1_Missense_Mutation_p.R478H|LTBP4_uc002ool.1_Missense_Mutation_p.R617H|LTBP4_uc010xvp.1_Missense_Mutation_p.R365H	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1605	EGF-like 16.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCATCTGCCGCCCGGGATTC	0.721													A	41135394	G	A	41135394	3	1	16	1	0	0	0	0	1	0	0	0	9076	1087	38	1	5236	1	LTBP4	19	41135394	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	52215	41135394	17993589	1423	13745											
CCDC97	90324	broad.mit.edu	37	chr19	41822537	41822537	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtggccatcctggcccagCtgtaccacgagaagccactg	11	14	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:41822537C>T	uc002oqg.2	+	2	417	c.295C>T	c.(295-297)CTG>TTG	p.L99L	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	99											0						CCTGGCCCAGCTGTACCACGA	0.637													T	41822537	C	T	41822537	2	4	16	1	0	0	0	0	0	0	0	1	2875	796	28	2		2	CCDC97	19	41822537	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	687143	41822537	17306446	1424	13746											
CCDC97	90324	broad.mit.edu	37	chr19	41828552	41828554	+	In_Frame_Del	DEL	GAG	GAG	-													tcgacatcgtggcacgggatGaggaggagaggtactttgat							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:41828552_41828554delGAG	uc002oqg.2	+	5	1086_1088	c.964_966delGAG	c.(964-966)GAGdel	p.E324del	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	324											0						GGCACGGGATGAGGAGGAGAGGT	0.631													-	41828554	GAG	-	41828552	7	5	16	1	0	1	0	1	0	0	0	0	2875	1291	45	0	982	0	CCDC97	19	41828552	In_Frame_Del	DEL	GAG	TCGA-BR-4292-01A-01D-1126-08	6015	41828552	17300431	1425	13747											
ZNF574	64763	broad.mit.edu	37	chr19	42583781	42583781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctttaagtgccccctgtgCagtcgtgtcttccctagccc	9	15	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:42583781C>T	uc002osm.3	+	2	1192	c.1023C>T	c.(1021-1023)TGC>TGT	p.C341C	ZNF574_uc002osk.3_Silent_p.C431C	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	341	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				GCCCCCTGTGCAGTCGTGTCT	0.597													T	42583781	C	T	42583781	2	4	16	1	0	0	0	0	0	0	0	1	18003	718	25	2		2	ZNF574	19	42583781	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	755229	42583781	16545202	1426	13748											
ERF	2077	broad.mit.edu	37	chr19	42752741	42752741	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacgcaccttcttgtcctcaCcctcatcctcaaagccccca	3	21	4	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:42752741C>A	uc002ote.3	-	4	1681	c.1523G>T	c.(1522-1524)GGT>GTT	p.G508V	ERF_uc002otd.3_Missense_Mutation_p.G239V	NM_006494	NP_006485	P50548	ERF_HUMAN	Ets2 repressor factor	508					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4		Prostate(69;0.00682)				CTTGTCCTCACCCTCATCCTC	0.682													A	42752741	C	A	42752741	3	1	16	1	0	0	0	0	1	0	0	0	5221	507	18	5	127	5	ERF	19	42752741	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	168960	42752741	16376242	1427	13749											
PSG5	5673	broad.mit.edu	37	chr19	43680089	43680089	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccgtatttcacattcataGggtcctgtttcatttctcgt	6	11	4	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:43680089G>T	uc002ovu.2	-	3	773	c.642C>A	c.(640-642)CCC>CCA	p.P214P	PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Intron|PSG5_uc002ovx.2_Silent_p.P214P|PSG5_uc002ovv.2_Silent_p.P307P|PSG5_uc002ovw.2_Intron	NM_002781	NP_002772	Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	214	Ig-like C2-type 1.				female pregnancy	extracellular region				skin(3)	3		Prostate(69;0.00899)				CACATTCATAGGGTCCTGTTT	0.522													T	43680089	G	T	43680089	2	4	16	1	0	0	0	0	0	0	0	1	12658	987	35	5		5	PSG5	19	43680089	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	927348	43680089	15448894	1428	13750											
XRCC1	7515	broad.mit.edu	37	chr19	44048331	44048331	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtatcggatgagtttccgCcgctcgtccccagggaactc	11	14	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:44048331C>T	uc002owt.2	-	15	1797	c.1677G>A	c.(1675-1677)CGG>CGA	p.R559R	XRCC1_uc010xwp.1_Silent_p.R528R	NM_006297	NP_006288	P18887	XRCC1_HUMAN	X-ray repair cross complementing protein 1	559	BRCT 2.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7		Prostate(69;0.0153)				TGAGTTTCCGCCGCTCGTCCC	0.582								Other_BER_factors					T	44048331	C	T	44048331	2	4	16	1	0	0	0	0	0	0	0	1	17449	726	26	2		2	XRCC1	19	44048331	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	368242	44048331	15080652	1429	13751											
CADM4	199731	broad.mit.edu	37	chr19	44131398	44131398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccccctcgtcctccaggCgggcatctgagagccggatc	12	17	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:44131398C>T	uc002oxc.1	-	3	333	c.284G>A	c.(283-285)CGC>CAC	p.R95H		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4 precursor	95	Ig-like V-type.|Extracellular (Potential).				cell adhesion	integral to membrane					0		Prostate(69;0.0199)				GTCCTCCAGGCGGGCATCTGA	0.602													T	44131398	C	T	44131398	3	4	16	1	0	0	0	0	1	0	0	0	2569	768	27	1	910	1	CADM4	19	44131398	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	83067	44131398	14997585	1430	13752											
IRGC	56269	broad.mit.edu	37	chr19	44223276	44223276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgggcttcagagaggccgCtgtcctgcaggagatccgag	16	11	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:44223276C>T	uc002oxh.2	+	2	713	c.566C>T	c.(565-567)GCT>GTT	p.A189V		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	189						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.0435)				AGAGAGGCCGCTGTCCTGCAG	0.682													T	44223276	C	T	44223276	3	4	16	1	0	0	0	0	1	0	0	0	7838	797	28	2	568	2	IRGC	19	44223276	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	91878	44223276	14905707	1431	13753											
ZNF226	7769	broad.mit.edu	37	chr19	44676240	44676240	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtcatttgtttttgtcgtaGgaagcagtgaccttcaagga	12	6	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:44676240G>T	uc002oyp.2	+	4	160	c.16_splice	c.e4-1	p.E6_splice	ZNF226_uc002oyn.2_Splice_Site_p.E6_splice|ZNF226_uc002oyo.2_Splice_Site_p.E6_splice|ZNF226_uc002oyq.2_Splice_Site|ZNF226_uc002oyr.2_Splice_Site|ZNF226_uc010ejg.2_Splice_Site_p.E6_splice|ZNF226_uc002oys.2_Splice_Site_p.E6_splice|ZNF226_uc002oyt.2_Splice_Site_p.E6_splice	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN	zinc finger protein 226 isoform a						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				TTTTGTCGTAGGAAGCAGTGA	0.522													T	44676240	G	T	44676240	5	4	16	1	0	0	0	0	0	0	1	0	17777	1014	35	5	21	5	ZNF226	19	44676240	Splice_Site	SNP	G	TCGA-BR-4292-01A-01D-1126-08	452964	44676240	14452743	1432	13754											
CLPTM1	1209	broad.mit.edu	37	chr19	45490450	45490450	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagatgtgaagttcgaCgccgtgagcggtgactacta	14	9	0	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:45490450C>T	uc002pai.2	+	8	822	c.807C>T	c.(805-807)GAC>GAT	p.D269D	CLPTM1_uc010ejv.1_Silent_p.D167D|CLPTM1_uc010xxf.1_Silent_p.D167D|CLPTM1_uc010xxg.1_Silent_p.D255D	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	269	Extracellular (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TGAAGTTCGACGCCGTGAGCG	0.602													T	45490450	C	T	45490450	2	4	16	1	0	0	0	0	0	0	0	1	3554	535	19	1		1	CLPTM1	19	45490450	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	814210	45490450	13638533	1433	13755											
ERCC2	2068	broad.mit.edu	37	chr19	45855905	45855905	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgcaggtattccagccgCgcctgcagatacggaggatg	13	13	0	1	rs145835916		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:45855905C>T	uc002pbj.2	-	21	1952	c.1905G>A	c.(1903-1905)GCG>GCA	p.A635A	ERCC2_uc002pbh.2_Silent_p.A198A|ERCC2_uc002pbi.2_Silent_p.A328A|ERCC2_uc010ejz.2_Silent_p.A557A|ERCC2_uc002pbk.2_Silent_p.A611A	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	635	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ATTCCAGCCGCGCCTGCAGAT	0.597			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				T	45855905	C	T	45855905	2	4	16	1	0	0	0	0	0	0	0	1	5213	755	27	1		1	ERCC2	19	45855905	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	365455	45855905	13273078	1434	13756											
FOXA3	3171	broad.mit.edu	37	chr19	46376101	46376101	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggctcacccgcttcctccAcaccctatttcactggcctg	7	18	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:46376101A>G	uc002pdr.2	+	2	1035	c.838A>G	c.(838-840)ACA>GCA	p.T280A		NM_004497	NP_004488	P55318	FOXA3_HUMAN	forkhead box A3	280					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)	1		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CGCTTCCTCCACACCCTATTT	0.632													G	46376101	A	G	46376101	3	3	16	1	0	0	0	0	1	0	0	0	5991	159	6	3	844	3	FOXA3	19	46376101	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	520196	46376101	12752882	1435	13757											
IGFL4	444882	broad.mit.edu	37	chr19	46543646	46543646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccactccccgcacctgggCgctggctggcatagccacag	12	17	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:46543646C>T	uc002pdy.1	-	3	153	c.99G>A	c.(97-99)GCG>GCA	p.A33A		NM_001002923	NP_001002923	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4 precursor	33						extracellular region					0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		CGCACCTGGGCGCTGGCTGGC	0.602													T	46543646	C	T	46543646	2	4	16	1	0	0	0	0	0	0	0	1	7589	755	27	1		1	IGFL4	19	46543646	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	167545	46543646	12585337	1436	13758											
PPP5C	5536	broad.mit.edu	37	chr19	46857048	46857048	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagttctacagccaggccatCgagctgaaccccagcaatgc	9	14	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:46857048C>T	uc002pem.2	+	2	225	c.165C>T	c.(163-165)ATC>ATT	p.I55I	PPP5C_uc010xya.1_5'UTR|PPP5C_uc002pen.2_Silent_p.I55I	NM_006247	NP_006238	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	55	TPR 1.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			lung(1)|pancreas(1)	2		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		GCCAGGCCATCGAGCTGAACC	0.617													T	46857048	C	T	46857048	2	4	16	1	0	0	0	0	0	0	0	1	12406	874	31	1		1	PPP5C	19	46857048	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	313402	46857048	12271935	1437	13759											
PNMAL1	55228	broad.mit.edu	37	chr19	46973945	46973945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcccaggtgcgcccctcGgcatccaggaattcattcag	9	16	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:46973945G>A	uc002peq.3	-	2	654	c.348C>T	c.(346-348)GCC>GCT	p.A116A	PNMAL1_uc002per.3_Silent_p.A116A	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	PNMA-like 1 isoform a	116											0		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tgcgcccctcggcatccagga	0													A	46973945	G	A	46973945	2	1	16	1	0	0	0	0	0	0	0	1	12157	1103	39	1		1	PNMAL1	19	46973945	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	116897	46973945	12155038	1438	13760											
FAM83E	54854	broad.mit.edu	37	chr19	49107038	49107038	+	Frame_Shift_Del	DEL	G	G	-													acctatgaccgagggtttctGggggggcgcaggtgggagcg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:49107038delG	uc002pjn.2	-	4	954	c.889delC	c.(889-891)CAGfs	p.Q297fs	SPACA4_uc002pjo.2_5'Flank	NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	hypothetical protein LOC54854	297										ovary(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GAGGGTTTCTGGGGGGGCGCA	0.721													-	49107038	G	-	49107038	7	5	16	1	0	1	0	1	0	0	0	0	5637	1357	47	0	555	0	FAM83E	19	49107038	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	2133093	49107038	10021945	1439	13761											
PLEKHA4	57664	broad.mit.edu	37	chr19	49362226	49362226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtcgggagagggtctggCgttgggggccccaatccaga	20	9	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:49362226C>T	uc002pkx.2	-	8	1414	c.863G>A	c.(862-864)CGC>CAC	p.R288H	PLEKHA4_uc002pkw.1_Intron|PLEKHA4_uc010eml.2_Missense_Mutation_p.R288H	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing family A	288	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GAGGGTCTGGCGTTGGGGGCC	0.692													T	49362226	C	T	49362226	3	4	16	1	0	0	0	0	1	0	0	0	12058	768	27	1	1528	1	PLEKHA4	19	49362226	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	255188	49362226	9766757	1440	13762											
PLEKHA4	57664	broad.mit.edu	37	chr19	49368837	49368837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgcctctcttcccaaaggCgtggatcttgtttactgccc	8	13	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:49368837C>T	uc002pkx.2	-	3	666	c.115G>A	c.(115-117)GCC>ACC	p.A39T	PLEKHA4_uc010eml.2_Missense_Mutation_p.A39T	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing family A	39						cytoplasm|membrane	1-phosphatidylinositol binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TTCCCAAAGGCGTGGATCTTG	0.587													T	49368837	C	T	49368837	3	4	16	1	0	0	0	0	1	0	0	0	12058	768	27	1	2296	1	PLEKHA4	19	49368837	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	6611	49368837	9760146	1441	13763											
BAX	581	broad.mit.edu	37	chr19	49458971	49458972	+	Frame_Shift_Ins	INS	-	-	G													aggatcgagcagggcgaatgINSgggggggaggcacccgagct					rs141306106	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:49458970_49458971T>TG	uc002plk.3	+	2	182_183	c.113_114T>TG	c.(112-114)atgfs	p.M38fs	BAX_uc002plf.1_Frame_Shift_Ins_p.M38fs|BAX_uc002plg.1_Frame_Shift_Ins_p.M1fs|BAX_uc002plh.1_Intron|BAX_uc010xzx.2_Non-coding_Transcript|BAX_uc002plj.3_Frame_Shift_Ins_p.M38fs|BAX_uc002pll.3_Intron|BAX_uc002plm.3_Intron	NM_138761	NP_620116	Q07812	BAX_HUMAN	Homo sapiens BCL2-associated X protein (BAX), transcript variant alpha, mRNA.	38					B cell apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|cleavage of lamin|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	p.E41fs*19(1)|p.R37*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		GCAGGGCGAATGGGGGGGGAGG	0.594													G	49458972	-	G	49458971	7	5	16	1	0	1	1	0	0	0	0	0	1328	1348	47	0	124	0	BAX	19	49458971	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	90134	49458971	9670012	1442	13764											
RUVBL2	10856	broad.mit.edu	37	chr19	49510397	49510397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccggcggtccatcggcgttCgcatcaagtaagcgggggac	15	12	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:49510397C>T	uc002plr.1	+	5	401	c.388C>T	c.(388-390)CGC>TGC	p.R130C	RUVBL2_uc002plq.1_Missense_Mutation_p.R85C|RUVBL2_uc010yab.1_Missense_Mutation_p.R130C|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Missense_Mutation_p.R85C|RUVBL2_uc010yac.1_Missense_Mutation_p.R85C	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	RuvB-like 2	130					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CATCGGCGTTCGCATCAAGTA	0.657													T	49510397	C	T	49510397	3	4	16	1	0	0	0	0	1	0	0	0	13753	884	31	1	406	1	RUVBL2	19	49510397	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	51426	49510397	9618586	1443	13765											
KCNA7	3743	broad.mit.edu	37	chr19	49573446	49573446	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaggctgcatgtccacAtggctgaacatcccagcctc	8	16	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:49573446A>G	uc002pmg.2	-	2	1601	c.1245T>C	c.(1243-1245)CAT>CAC	p.H415H		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related	415						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)	1		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		GCATGTCCACATGGCTGAACA	0.602													G	49573446	A	G	49573446	2	3	16	1	0	0	0	0	0	0	0	1	8008	214	8	3		3	KCNA7	19	49573446	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	63049	49573446	9555537	1444	13766											
PRMT1	3276	broad.mit.edu	37	chr19	50189896	50189896	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacacgcactggaagcagacGgtgttctacatggaggacta	12	9	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:50189896G>A	uc010enf.1	+	10	987	c.945G>A	c.(943-945)ACG>ACA	p.T315T	PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Silent_p.T291T|PRMT1_uc002ppe.2_Silent_p.T297T|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Silent_p.T262T|PRMT1_uc010ybb.1_5'Flank|C19orf76_uc002pph.2_5'Flank	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	HMT1 hnRNP methyltransferase-like 2 isoform 1	296						cytoplasm	protein methyltransferase activity			ovary(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		GGAAGCAGACGGTGTTCTACA	0.687													A	50189896	G	A	50189896	2	1	16	1	0	0	0	0	0	0	0	1	12535	1103	39	1		1	PRMT1	19	50189896	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	616450	50189896	8939087	1445	13767											
ZNF473	25888	broad.mit.edu	37	chr19	50542512	50542512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacacgttctgggacacagCgttggacaattgccaggacc	13	11	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:50542512C>T	uc002prn.2	+	3	341	c.104C>T	c.(103-105)GCG>GTG	p.A35V	ZNF473_uc002prm.2_Missense_Mutation_p.A35V|ZNF473_uc010ybo.1_Missense_Mutation_p.A23V	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	35	KRAB.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TGGGACACAGCGTTGGACAAT	0.582													T	50542512	C	T	50542512	3	4	16	1	0	0	0	0	1	0	0	0	17928	768	27	1	110	1	ZNF473	19	50542512	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	352616	50542512	8586471	1446	13768											
ZNF473	25888	broad.mit.edu	37	chr19	50545072	50545072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcccagaagcaacaagCcctggtgagtggatggagag	16	8	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:50545072C>T	uc002prn.2	+	4	459	c.222C>T	c.(220-222)AGC>AGT	p.S74S	ZNF473_uc002prm.2_Silent_p.S74S|ZNF473_uc010ybo.1_Silent_p.S62S	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	74	KRAB.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AAGCAACAAGCCCTGGTGAGT	0.587													T	50545072	C	T	50545072	2	4	16	1	0	0	0	0	0	0	0	1	17928	738	26	2		2	ZNF473	19	50545072	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2560	50545072	8583911	1447	13769											
GPR32	2854	broad.mit.edu	37	chr19	51274765	51274765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcctccaggctagctttgCcttgggctgtgtcaacagca	10	13	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:51274765C>T	uc010ycf.1	+	1	908	c.908C>T	c.(907-909)GCC>GTC	p.A303V		NM_001506	NP_001497	O75388	GPR32_HUMAN	G protein-coupled receptor 32	303	Helical; Name=7; (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GCTAGCTTTGCCTTGGGCTGT	0.542													T	51274765	C	T	51274765	3	4	16	1	0	0	0	0	1	0	0	0	6688	739	26	2	910	2	GPR32	19	51274765	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	729693	51274765	7854218	1448	13770											
ZNF761	388561	broad.mit.edu	37	chr19	53950474	53950474	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttctaaagactcttggtaCgtgaggaagaaacccggaag	11	8	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:53950474C>T	uc010eqp.2	+	4	411	c.-47C>T	c.(-49--45)TACGT>TATGT		ZNF761_uc002qbr.2_RNA|ZNF761_uc010ydy.1_Translation_Start_Site|ZNF761_uc002qbs.2_RNA|ZNF761_uc002qbt.1_5'Flank	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		ACTCTTGGTACGTGAGGAAGA	0.433													T	53950474	C	T	53950474	1	4	16	1	0	0	0	0	0	0	0	0	18133	551	19	1		1	ZNF761	19	53950474	Translation_Start_Site	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2675709	53950474	5178509	1449	13771											
MBOAT7	79143	broad.mit.edu	37	chr19	54682578	54682578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgcatgccatcgcgcaccCgcacgcagaaatctgtgctg	10	16	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:54682578C>T	uc002qdq.2	-	8	1201	c.935G>A	c.(934-936)CGG>CAG	p.R312Q	MBOAT7_uc010erg.2_5'UTR|MBOAT7_uc010yem.1_Missense_Mutation_p.R294Q|MBOAT7_uc002qdr.2_Missense_Mutation_p.R312Q|MBOAT7_uc002qds.2_Missense_Mutation_p.R239Q|MBOAT7_uc010yen.1_Missense_Mutation_p.R239Q|MBOAT7_uc002qdt.3_Missense_Mutation_p.R312Q	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain	312					phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ATCGCGCACCCGCACGCAGAA	0.587													T	54682578	C	T	54682578	3	4	16	1	0	0	0	0	1	0	0	0	9358	652	23	1	495	1	MBOAT7	19	54682578	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	732104	54682578	4446405	1450	13772											
LILRB3	11025	broad.mit.edu	37	chr19	54720983	54720983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtggatggccagagtggcGtagatgctgggctcagctgg	18	7	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:54720983G>A	uc002qef.1	-	13	1986	c.1875C>T	c.(1873-1875)TAC>TAT	p.Y625Y	LILRB3_uc002qee.1_Silent_p.Y626Y|LILRB3_uc002qeh.1_Silent_p.Y625Y|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Silent_p.Y625Y|LILRA6_uc002qek.1_Silent_p.Y626Y|LILRB3_uc010erh.1_Silent_p.Y642Y|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Silent_p.Y625Y|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.Y626Y|LILRB3_uc002qep.1_Silent_p.Y626Y|LILRB3_uc002qeq.1_Silent_p.Y625Y|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Silent_p.Y626Y	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	625	ITIM motif 3.|Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			skin(2)|ovary(1)	3	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCAGAGTGGCGTAGATGCTGG	0.627													A	54720983	G	A	54720983	2	1	16	1	0	0	0	0	0	0	0	1	8792	1140	40	1		1	LILRB3	19	54720983	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	38405	54720983	4408000	1451	13773											
LILRA5	353514	broad.mit.edu	37	chr19	54822823	54822823	+	Frame_Shift_Del	DEL	G	G	-													agggcctggaactgcccactGggggtcagctgtgagtccaa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:54822823delG	uc002qfe.2	-	5	693	c.573delC	c.(571-573)CCCfs	p.P191fs	LILRA5_uc002qff.2_Frame_Shift_Del_p.P179fs|LILRA5_uc010yev.1_Frame_Shift_Del_p.P191fs|LILRA5_uc010yew.1_Frame_Shift_Del_p.P179fs|LILRA5_uc002qfh.1_Frame_Shift_Del_p.P179fs|LILRA5_uc002qfg.1_Frame_Shift_Del_p.P191fs	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor subfamily	191	Extracellular (Potential).|Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity			upper_aerodigestive_tract(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACTGCCCACTGGGGGTCAGCT	0.592													-	54822823	G	-	54822823	7	5	16	1	0	1	0	1	0	0	0	0	8788	1335	47	0	424	0	LILRA5	19	54822823	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	101840	54822823	4306160	1452	13774											
NCR1	9437	broad.mit.edu	37	chr19	55420752	55420752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacgtacagcgcggataCgggaaggtccaggcggagtt	16	10	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:55420752C>T	uc002qib.2	+	4	542	c.504C>T	c.(502-504)TAC>TAT	p.Y168Y	NCR1_uc002qic.2_Silent_p.Y168Y|NCR1_uc002qie.2_Silent_p.Y168Y|NCR1_uc002qid.2_Silent_p.Y73Y|NCR1_uc002qif.2_Silent_p.Y73Y|NCR1_uc010esj.2_Silent_p.Y61Y	NM_004829	NP_004820	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	168	Extracellular (Potential).|Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(193;0.0449)		AGCGCGGATACGGGAAGGTCC	0.567													T	55420752	C	T	55420752	2	4	16	1	0	0	0	0	0	0	0	1	10237	547	19	1		1	NCR1	19	55420752	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	597929	55420752	3708231	1453	13775											
NLRP2	55655	broad.mit.edu	37	chr19	55494974	55494974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacttaaatgcagtagaCgttgtgccatcttcattctg	8	10	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:55494974C>T	uc002qij.2	+	6	1994	c.1908C>T	c.(1906-1908)GAC>GAT	p.D636D	NLRP2_uc010yfp.1_Silent_p.D613D|NLRP2_uc010esn.2_Silent_p.D612D|NLRP2_uc010eso.2_Silent_p.D633D|NLRP2_uc010esp.2_Silent_p.D614D	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	636					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ATGCAGTAGACGTTGTGCCAT	0.498													T	55494974	C	T	55494974	2	4	16	1	0	0	0	0	0	0	0	1	10477	535	19	1		1	NLRP2	19	55494974	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	74222	55494974	3634009	1454	13776											
NLRP9	338321	broad.mit.edu	37	chr19	56243922	56243922	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatacccacccacatcacGccctcagactcagataaccc	3	20	4	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:56243922G>A	uc002qly.2	-	2	1303	c.1275C>T	c.(1273-1275)GGC>GGT	p.G425G		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	425	NACHT.		G -> D (in a breast cancer sample; somatic mutation).			cytoplasm	ATP binding	p.G425D(1)		skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CCCACATCACGCCCTCAGACT	0.473													A	56243922	G	A	56243922	2	1	16	1	0	0	0	0	0	0	0	1	10484	1074	38	1		1	NLRP9	19	56243922	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	748948	56243922	2885061	1455	13777											
PEG3	5178	broad.mit.edu	37	chr19	57333110	57333110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaggaagggaaagatccCgcggaggcatccctgggaag	15	11	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:57333110C>T	uc002qnu.2	-	4	929	c.578G>A	c.(577-579)CGG>CAG	p.R193Q	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.R68Q|ZIM2_uc002qnq.2_Missense_Mutation_p.R68Q|ZIM2_uc010etp.2_Missense_Mutation_p.R68Q|ZIM2_uc010ygs.1_Missense_Mutation_p.R68Q|PEG3_uc002qnt.2_Missense_Mutation_p.R194Q|PEG3_uc002qnv.2_Missense_Mutation_p.R193Q|PEG3_uc002qnw.2_Missense_Mutation_p.R68Q|PEG3_uc002qnx.2_Missense_Mutation_p.R67Q|PEG3_uc010etr.2_Missense_Mutation_p.R193Q	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	193					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R193W(1)		ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGAAAGATCCCGCGGAGGCAT	0.542													T	57333110	C	T	57333110	3	4	16	1	0	0	0	0	1	0	0	0	11720	652	23	1	4207	1	PEG3	19	57333110	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1089188	57333110	1795873	1456	13778											
ZNF543	125919	broad.mit.edu	37	chr19	57839932	57839932	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acactggagtgaaaccctttGaatgcaacgagtgtggaaaa	11	7	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:57839932G>A	uc002qoi.1	+	4	1447	c.1102G>A	c.(1102-1104)GAA>AAA	p.E368K		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	368	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAAACCCTTTGAATGCAACGA	0.507													A	57839932	G	A	57839932	3	1	16	1	0	0	0	0	1	0	0	0	17973	1291	45	4	1116	4	ZNF543	19	57839932	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	506822	57839932	1289051	1457	13779											
ZNF17	7565	broad.mit.edu	37	chr19	57931842	57931842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaattcatactggagaaCggccttatggatgcaatgaa	10	6	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:57931842C>T	uc002qoo.1	+	3	1213	c.982C>T	c.(982-984)CGG>TGG	p.R328W	ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Missense_Mutation_p.R330W	NM_006959	NP_008890	P17021	ZNF17_HUMAN	zinc finger protein 17	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		TACTGGAGAACGGCCTTATGG	0.443													T	57931842	C	T	57931842	3	4	16	1	0	0	0	0	1	0	0	0	17740	527	19	1	992	1	ZNF17	19	57931842	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	91910	57931842	1197141	1458	13780											
ZNF549	256051	broad.mit.edu	37	chr19	58048866	58048866	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacatcagaaaggaggagaGcagtgccttgcttctgaata	11	8	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:58048866G>T	uc002qpb.1	+	4	743	c.494G>T	c.(493-495)AGC>ATC	p.S165I	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.S152I	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGGAGGAGAGCAGTGCCTTG	0.463													T	58048866	G	T	58048866	3	4	16	1	0	0	0	0	1	0	0	0	17978	971	34	5	465	5	ZNF549	19	58048866	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	117024	58048866	1080117	1459	13781											
ZNF416	55659	broad.mit.edu	37	chr19	58083691	58083691	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttggataaaggatttcccGcactgtccacagtcgtaagg	10	9	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:58083691G>A	uc002qpf.2	-	4	1752	c.1581C>T	c.(1579-1581)TGC>TGT	p.C527C	ZNF547_uc002qpm.3_Intron	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	527	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AGGATTTCCCGCACTGTCCAC	0.438													A	58083691	G	A	58083691	2	1	16	1	0	0	0	0	0	0	0	1	17890	1079	38	1		1	ZNF416	19	58083691	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	34825	58083691	1045292	1460	13782											
ZNF324	25799	broad.mit.edu	37	chr19	58980596	58980596	+	Frame_Shift_Del	DEL	G	G	-													gtacttctcccaggaggagtGggggctcctggacacagccc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:58980595_58980595TG>T	uc002qsw.2	+	1	188	c.43_43TG>T	c.(43-45)tggfs	p.W15fs		NM_014347	NP_055162	O75467	Z324A_HUMAN	Homo sapiens zinc finger protein 324 (ZNF324), mRNA.	15	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCAGGAGGAGTGGGGGCTCCT	0.572													-	58980596	G	-	58980596	7	5	16	1	0	1	0	1	0	0	0	0	17841	1357	47	0	46	0	ZNF324	19	58980596	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	896905	58980596	148387	1461	13783											
SLC27A5	10998	broad.mit.edu	37	chr19	59011792	59011792	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagctcaaagggggacAgcatctggggtggagggtgg	19	8	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr19:59011792A>G	uc002qtc.2	-	6	1492	c.1382T>C	c.(1381-1383)CTG>CCG	p.L461P	SLC27A5_uc002qtb.2_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid	461	Cytoplasmic (Probable).				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AAAGGGGGACAGCATCTGGGG	0.622													G	59011792	A	G	59011792	3	3	16	1	0	0	0	0	1	0	0	0	14529	188	7	3	710	3	SLC27A5	19	59011792	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	31196	59011792	117191	1462	13784											
RBCK1	10616	broad.mit.edu	37	chr20	409650	409652	+	In_Frame_Del	DEL	AGA	AGA	-													ccagtgccagatcgtggtacAgaagaaggacggctgcgact							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:409650_409652delAGA	uc002wdp.3	+	11	2057_2059	c.1364_1366delAGA	c.(1363-1368)CAGAAG>CAG	p.K457del	RBCK1_uc002wdq.3_In_Frame_Del_p.K415del|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_In_Frame_Del_p.K287del	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing	457	IBR-type 2.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				ATCGTGGTACAGAAGAAGGACGG	0.685													-	409652	AGA	-	409650	7	5	16	1	0	1	0	1	0	0	0	0	13107	188	7	0	1425	0	RBCK1	20	409650	In_Frame_Del	DEL	AGA	TCGA-BR-4292-01A-01D-1126-08		409650	62615870	1463	13785											
PSMF1	9491	broad.mit.edu	37	chr20	1106263	1106263	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttgtgaaagccatcacCgtggagagcagcatgatcct	10	12	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:1106263C>T	uc002wel.3	+	3	420	c.252C>T	c.(250-252)ACC>ACT	p.T84T	PSMF1_uc010zpo.1_5'UTR|PSMF1_uc002wem.3_Silent_p.T84T|PSMF1_uc010zpp.1_Silent_p.T84T|PSMF1_uc002wen.3_Silent_p.T84T	NM_178578	NP_848693	Q92530	PSMF1_HUMAN	proteasome inhibitor subunit 1	84					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding				0						AAGCCATCACCGTGGAGAGCA	0.493													T	1106263	C	T	1106263	2	4	16	1	0	0	0	0	0	0	0	1	12710	639	23	1		1	PSMF1	20	1106263	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	696613	1106263	61919257	1464	13786											
VPS16	64601	broad.mit.edu	37	chr20	2840378	2840378	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggcaggaaatatgagctgTacagcatggactgggacctg	15	7	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:2840378T>C	uc002whe.2	+	2	115	c.67T>C	c.(67-69)TAC>CAC	p.Y23H	VPS16_uc002whf.2_Missense_Mutation_p.Y23H|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 isoform 1	23					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				ovary(2)|pancreas(1)|skin(1)	4						ATATGAGCTGTACAGCATGGA	0.542													C	2840378	T	C	2840378	3	2	16	1	0	0	0	0	1	0	0	0	17190	1638	57	3	73	3	VPS16	20	2840378	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	1734115	2840378	60185142	1465	13787											
ProSAPiP1	9762	broad.mit.edu	37	chr20	3146842	3146842	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactcccactcccacccgcTggagtcatggtccgagactt	8	18	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:3146842T>C	uc002wia.1	-	2	2022	c.624A>G	c.(622-624)CCA>CCG	p.P208P	ProSAPiP1_uc002wib.1_Silent_p.P208P	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	208						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						TCCCACCCGCTGGAGTCATGG	0.642													C	3146842	T	C	3146842	2	2	16	1	0	0	0	0	0	0	0	1	12870	1567	55	3		3	ProSAPiP1	20	3146842	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	306464	3146842	59878678	1466	13788											
C20orf194	25943	broad.mit.edu	37	chr20	3321163	3321164	+	Frame_Shift_Ins	INS	-	-	AA													cacttaccatgtgcttggcaINSaagctcccgccgggaccagt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:3321162_3321163C>CAA	uc002wii.2	-	9	1020_1021	c.969_970G>TTG	c.(967-972)tttgccfs	p.F323fs	C20orf194_uc002wij.3_Frame_Shift_Ins_p.F62fs|C20orf194_uc002wik.2_5'UTR|C20orf194_uc010gay.1_Non-coding_Transcript	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	323										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						ATGTGCTTGGCAAAGCTCCCGC	0.505													AA	3321164	-	AA	3321163	7	5	16	1	0	1	1	0	0	0	0	0	2099	127	5	0	2676	0	C20orf194	20	3321163	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	174321	3321163	59704357	1467	13789											
ATRN	8455	broad.mit.edu	37	chr20	3565398	3565398	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagggaaatgcatagagGgttcctataaaggaccagtg	13	6	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:3565398G>T	uc002wim.2	+	18	3145	c.3055G>T	c.(3055-3057)GGT>TGT	p.G1019C	ATRN_uc002wil.2_Missense_Mutation_p.G1019C	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	1019	Extracellular (Potential).|PSI 4.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2						ATGCATAGAGGGTTCCTATAA	0.493													T	3565398	G	T	3565398	3	4	16	1	0	0	0	0	1	0	0	0	1206	1232	43	5	3125	5	ATRN	20	3565398	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	244235	3565398	59460122	1468	13790											
SMOX	54498	broad.mit.edu	37	chr20	4164164	4164164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accccaacattccaaaacctCggcgaatcttgcgctcggcc	7	17	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:4164164C>T	uc002wkm.1	+	6	1594	c.1393C>T	c.(1393-1395)CGG>TGG	p.R465W	SMOX_uc002wkk.1_Missense_Mutation_p.R412W|SMOX_uc002wkl.1_Missense_Mutation_p.R412W|SMOX_uc002wkn.1_Intron|SMOX_uc002wkp.2_Missense_Mutation_p.R465W|SMOX_uc010zqo.1_Missense_Mutation_p.R389W|SMOX_uc002wko.1_Missense_Mutation_p.R465W	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	spermine oxidase isoform 1	465					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)	1					Spermine(DB00127)	TCCAAAACCTCGGCGAATCTT	0.567													T	4164164	C	T	4164164	3	4	16	1	0	0	0	0	1	0	0	0	14803	875	31	1	1411	1	SMOX	20	4164164	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	598766	4164164	58861356	1469	13791											
SLC23A2	9962	broad.mit.edu	37	chr20	4843454	4843454	+	Frame_Shift_Del	DEL	C	C	-													gcagaacagggctcccagcaCaggatccggaagggacgcaa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:4843454delC	uc002wlg.1	-	14	1831	c.1456delG	c.(1456-1458)GTGfs	p.V486fs	SLC23A2_uc010zqr.1_Frame_Shift_Del_p.V371fs|SLC23A2_uc002wlh.1_Frame_Shift_Del_p.V486fs	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	486	Helical; (Potential).				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2						GCTCCCAGCACAGGATCCGGA	0.552													-	4843454	C	-	4843454	7	5	16	1	0	1	0	1	0	0	0	0	14463	478	17	0	512	0	SLC23A2	20	4843454	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	679290	4843454	58182066	1470	13792											
SNAP25	6616	broad.mit.edu	37	chr20	10277684	10277684	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagatggccatcagtggCggcttcatccgcaggtgagc	15	11	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:10277684C>T	uc002wnq.1	+	6	605	c.393C>T	c.(391-393)GGC>GGT	p.G131G	SNAP25_uc002wnr.1_Silent_p.G131G|SNAP25_uc002wns.1_Silent_p.G68G|SNAP25_uc010gca.1_Silent_p.G131G|SNAP25_uc010gcb.1_Silent_p.G68G|SNAP25_uc010gcc.1_Intron	NM_130811	NP_570824	P60880	SNP25_HUMAN	synaptosomal-associated protein 25 isoform	131					energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				skin(2)	2					Botulinum Toxin Type A(DB00083)	CCATCAGTGGCGGCTTCATCC	0.403													T	10277684	C	T	10277684	2	4	16	1	0	0	0	0	0	0	0	1	14830	755	27	1		1	SNAP25	20	10277684	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	5434230	10277684	52747836	1471	13793											
JAG1	182	broad.mit.edu	37	chr20	10622442	10622442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcctacctttgagcaggCgatccgtccattcaggcact	9	13	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:10622442C>T	uc002wnw.2	-	22	3187	c.2671G>A	c.(2671-2673)GCC>ACC	p.A891T	JAG1_uc010gcd.1_Missense_Mutation_p.A449T	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	891	Extracellular (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						TTTGAGCAGGCGATCCGTCCA	0.527									Alagille_Syndrome				T	10622442	C	T	10622442	3	4	16	1	0	0	0	0	1	0	0	0	7934	768	27	1	1005	1	JAG1	20	10622442	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	344758	10622442	52403078	1472	13794											
ISM1	140862	broad.mit.edu	37	chr20	13260483	13260483	+	Frame_Shift_Del	DEL	G	G	-													caacttcctcaacccccccaGggggtgggaccatacagccc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:13260483delG	uc010gce.1	+	3	587	c.581delG	c.(580-582)AGGfs	p.R194fs	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	194						extracellular region					0						AACCCCCCCAGGGGGTGGGAC	0.542													-	13260483	G	-	13260483	7	5	16	1	0	1	0	1	0	0	0	0	7860	1000	35	0	591	0	ISM1	20	13260483	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	2638041	13260483	49765037	1473	13795											
FLRT3	23767	broad.mit.edu	37	chr20	14308191	14308191	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttatacaaggtagcttccGttacttcagaaccctaaaat	5	10	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:14308191G>A	uc002wov.1	-	3	429	c.-38C>T	c.(-40--36)AACGG>AATGG		MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Translation_Start_Site	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3						cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GGTAGCTTCCGTTACTTCAGA	0.388													A	14308191	G	A	14308191	1	1	16	1	0	0	0	0	0	0	0	0	5940	1160	40	1		1	FLRT3	20	14308191	Translation_Start_Site	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1047708	14308191	48717329	1474	13796											
OTOR	56914	broad.mit.edu	37	chr20	16729527	16729527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagatactatttctctggCtagtgctcaagaagattata	7	8	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:16729527C>T	uc002wpj.2	+	2	175	c.131C>T	c.(130-132)GCT>GTT	p.A44V	OTOR_uc002wpk.2_5'Flank	NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	otoraplin precursor	44	SH3.				sensory perception of sound	extracellular region				ovary(1)|central_nervous_system(1)	2						ATTTCTCTGGCTAGTGCTCAA	0.323													T	16729527	C	T	16729527	3	4	16	1	0	0	0	0	1	0	0	0	11308	797	28	2	137	2	OTOR	20	16729527	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2421336	16729527	46295993	1475	13797											
OTOR	56914	broad.mit.edu	37	chr20	16729577	16729578	+	Frame_Shift_Ins	INS	-	-	A													ctgtagattcattaacgttaINSaaaaagggcagcagatctat							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:16729576_16729577T>TA	uc002wpj.3	+	1	224_225	c.180_181T>TA	c.(178-183)gttaaafs	p.V60fs		NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	Homo sapiens otoraplin (OTOR), mRNA.	60	SH3.				sensory perception of sound	extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						TCATTAACGTTAAAAAAGGGCA	0.356													A	16729578	-	A	16729577	7	5	16	1	0	1	1	0	0	0	0	0	11308	363	13	0	187	0	OTOR	20	16729577	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	50	16729577	46295943	1476	13798											
PCSK2	5126	broad.mit.edu	37	chr20	17462676	17462676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaagagctggacgaagcCgtggagagaagcctgaaaag	17	6	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:17462676C>T	uc002wpm.2	+	12	2198	c.1878C>T	c.(1876-1878)GCC>GCT	p.A626A	PCSK2_uc002wpl.2_Silent_p.A607A|PCSK2_uc010zrm.1_Silent_p.A591A|PCSK2_uc002wpn.2_Silent_p.A280A	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	626					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGACGAAGCCGTGGAGAGAA	0.592													T	17462676	C	T	17462676	2	4	16	1	0	0	0	0	0	0	0	1	11601	639	23	1		1	PCSK2	20	17462676	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	733099	17462676	45562844	1477	13799											
CSRP2BP	57325	broad.mit.edu	37	chr20	18143418	18143418	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaactgattgtcagacaagcGaaaagggataggggattacc	12	6	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:18143418G>A	uc002wqj.2	+	7	2122	c.1500G>A	c.(1498-1500)GCG>GCA	p.A500A	CSRP2BP_uc002wqk.2_Silent_p.A372A|CSRP2BP_uc010zru.1_Silent_p.A371A	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	500					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						TCAGACAAGCGAAAAGGGATA	0.468													A	18143418	G	A	18143418	2	1	16	1	0	0	0	0	0	0	0	1	3968	1045	37	1		1	CSRP2BP	20	18143418	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	680742	18143418	44882102	1478	13800											
ZNF133	7692	broad.mit.edu	37	chr20	18296783	18296783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaccctcatctctcacaggCggacacacactggggagaag	10	14	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:18296783C>T	uc010gcq.2	+	5	1593	c.1288C>T	c.(1288-1290)CGG>TGG	p.R430W	ZNF133_uc010zrv.1_Missense_Mutation_p.R433W|ZNF133_uc010zrw.1_Missense_Mutation_p.R367W|ZNF133_uc010gcr.2_Missense_Mutation_p.R430W|ZNF133_uc010zrx.1_Missense_Mutation_p.R335W|ZNF133_uc002wql.3_Missense_Mutation_p.R429W|ZNF133_uc010gcs.2_Missense_Mutation_p.R429W|ZNF133_uc010zry.1_Missense_Mutation_p.R335W|ZNF133_uc002wqm.2_Missense_Mutation_p.R430W	NM_003434	NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	430	C2H2-type 8.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)	2						CTCTCACAGGCGGACACACAC	0.542													T	18296783	C	T	18296783	3	4	16	1	0	0	0	0	1	0	0	0	17720	759	27	1	1295	1	ZNF133	20	18296783	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	153365	18296783	44728737	1479	13801											
PAX1	5075	broad.mit.edu	37	chr20	21687147	21687147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccctgcccaacgccatcCgcttgcgcattgtggagctg	11	17	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:21687147C>T	uc002wsj.2	+	2	412	c.358C>T	c.(358-360)CGC>TGC	p.R120C	PAX1_uc010zsl.1_Missense_Mutation_p.R120C|PAX1_uc010zsm.1_Missense_Mutation_p.R96C	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	120	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						CAACGCCATCCGCTTGCGCAT	0.662													T	21687147	C	T	21687147	3	4	16	1	0	0	0	0	1	0	0	0	11478	652	23	1	364	1	PAX1	20	21687147	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3390364	21687147	41338373	1480	13802											
PAX1	5075	broad.mit.edu	37	chr20	21687491	21687491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcgcagcccggaccgtaCgaggcaagtaagcagccgcc	14	15	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:21687491C>T	uc002wsj.2	+	2	756	c.702C>T	c.(700-702)TAC>TAT	p.Y234Y	PAX1_uc010zsl.1_Silent_p.Y234Y|PAX1_uc010zsm.1_Silent_p.Y210Y	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	234					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						CCGGACCGTACGAGGCAAGTA	0.642													T	21687491	C	T	21687491	2	4	16	1	0	0	0	0	0	0	0	1	11478	547	19	1		1	PAX1	20	21687491	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	344	21687491	41338029	1481	13803											
ACSS1	84532	broad.mit.edu	37	chr20	25011401	25011401	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccacctcctcaccatcatTgatcctcccagccaaggact	5	19	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:25011401T>C	uc002wub.2	-	3	1503	c.625A>G	c.(625-627)AAT>GAT	p.N209D	ACSS1_uc002wuc.2_Missense_Mutation_p.N209D|ACSS1_uc010gdc.2_Missense_Mutation_p.N209D|ACSS1_uc002wua.2_Missense_Mutation_p.N126D	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	209					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCACCATCATTGATCCTCCCA	0.587													C	25011401	T	C	25011401	3	2	16	1	0	0	0	0	1	0	0	0	188	1812	63	3	1492	3	ACSS1	20	25011401	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	3323910	25011401	38014119	1482	13804											
MAPRE1	22919	broad.mit.edu	37	chr20	31427543	31427543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtgctctctttttcagctCcccagaggcccatctcaaca	6	16	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:31427543C>T	uc002wyh.2	+	5	617	c.478C>T	c.(478-480)CCC>TCC	p.P160S		NM_012325	NP_036457	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family,	160	Interaction with MTUS2/TIP150.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding				0						TTTTTCAGCTCCCCAGAGGCC	0.527													T	31427543	C	T	31427543	3	4	16	1	0	0	0	0	1	0	0	0	9294	855	30	4	492	4	MAPRE1	20	31427543	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	6416142	31427543	31597977	1483	13805											
CDK5RAP1	51654	broad.mit.edu	37	chr20	31967484	31967484	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattctgaccaagaagtgtcActtctttcagcccctaaaca	5	13	4	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:31967484A>G	uc010gek.2	-	9	1056	c.932T>C	c.(931-933)GTG>GCG	p.V311A	CDK5RAP1_uc002wyy.2_Missense_Mutation_p.V207A|CDK5RAP1_uc002wyz.2_Missense_Mutation_p.V297A|CDK5RAP1_uc002wza.2_Missense_Mutation_p.V297A|CDK5RAP1_uc010gel.2_Missense_Mutation_p.V206A|CDK5RAP1_uc010gem.2_Intron|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.V297A	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	311					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			ovary(2)|skin(2)|lung(1)	5						AAGAAGTGTCACTTCTTTCAG	0.368													G	31967484	A	G	31967484	3	3	16	1	0	0	0	0	1	0	0	0	3145	159	6	3	901	3	CDK5RAP1	20	31967484	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	539941	31967484	31058036	1484	13806											
TP53INP2	58476	broad.mit.edu	37	chr20	33296578	33296578	+	Frame_Shift_Del	DEL	C	C	-													ctccagcctcttcttcagcaCcccctcgccccccgaagacc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:33296578delC	uc002xau.1	+	3	370	c.35delC	c.(34-36)ACCfs	p.T12fs		NM_021202	NP_067025	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	12						nucleus					0						TTCTTCAGCACCCCCTCGCCC	0.662													-	33296578	C	-	33296578	7	5	16	1	0	1	0	1	0	0	0	0	16386	507	18	0	37	0	TP53INP2	20	33296578	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	1329094	33296578	29728942	1485	13807											
CEP250	11190	broad.mit.edu	37	chr20	34053898	34053898	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaggtgaacacccagcttCgactgcacatggaaaaagct	10	11	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:34053898C>T	uc002xcm.2	+	8	1032	c.361C>T	c.(361-363)CGA>TGA	p.R121*	CEP250_uc010zve.1_5'UTR|CEP250_uc010gfe.1_RNA|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_5'Flank	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	121	Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CACCCAGCTTCGACTGCACAT	0.532													T	34053898	C	T	34053898	4	4	16	1	0	0	0	0	0	1	0	0	3252	876	31	1	375	1	CEP250	20	34053898	Nonsense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	757320	34053898	28971622	1486	13808											
RBM12	10137	broad.mit.edu	37	chr20	34241967	34241967	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaacacaaaaaccagcctcAtgtggtgatcttgaccttga	7	10	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:34241967A>G	uc002xdq.2	-	3	1510	c.1278T>C	c.(1276-1278)CAT>CAC	p.H426H	CPNE1_uc010zvj.1_5'Flank|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Silent_p.H426H|RBM12_uc002xds.2_Silent_p.H426H	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	426						nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AACCAGCCTCATGTGGTGATC	0.413											OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G	34241967	A	G	34241967	2	3	16	1	0	0	0	0	0	0	0	1	13113	214	8	3		3	RBM12	20	34241967	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	188069	34241967	28783553	1487	13809											
RBL1	5933	broad.mit.edu	37	chr20	35663858	35663858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctcttagcactccctgCggtaggagaactgtagcgtt	10	11	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:35663858C>T	uc002xgi.2	-	15	2036	c.1957G>A	c.(1957-1959)GCA>ACA	p.A653T	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.A653T	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	653	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				GCACTCCCTGCGGTAGGAGAA	0.368													T	35663858	C	T	35663858	3	4	16	1	0	0	0	0	1	0	0	0	13109	768	27	1	1290	1	RBL1	20	35663858	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1421891	35663858	27361662	1488	13810											
RPN2	6185	broad.mit.edu	37	chr20	35835788	35835788	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctcgcataatcgctaccAcgtgccagttgtggttgtgc	11	12	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:35835788A>G	uc002xgp.2	+	7	1107	c.803A>G	c.(802-804)CAC>CGC	p.H268R	RPN2_uc002xgo.3_Missense_Mutation_p.H268R|RPN2_uc010gfw.2_Missense_Mutation_p.H111R|RPN2_uc002xgq.2_Missense_Mutation_p.H236R	NM_002951	NP_002942	P04844	RPN2_HUMAN	ribophorin II isoform 1 precursor	268	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				AATCGCTACCACGTGCCAGTT	0.547													G	35835788	A	G	35835788	3	3	16	1	0	0	0	0	1	0	0	0	13608	159	6	3	829	3	RPN2	20	35835788	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	171930	35835788	27189732	1489	13811											
RALGAPB	57148	broad.mit.edu	37	chr20	37146233	37146233	+	Frame_Shift_Del	DEL	C	C	-													aagtgctgctgtcagtaccaCccccccacataaccggaggc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:37146232_37146232AC>A	uc002xiw.3	+	7	1392	c.1135_1135AC>A	c.(1135-1137)accfs	p.T379fs	RALGAPB_uc010zvz.1_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xix.3_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xiy.1_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xiz.3_Frame_Shift_Del_p.T157fs|RALGAPB_uc002xja.1_Frame_Shift_Del_p.T106fs	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	379					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACA	0.443													-	37146233	C	-	37146233	7	5	16	1	0	1	0	1	0	0	0	0	13015	507	18	0	1162	0	RALGAPB	20	37146233	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	1310445	37146233	25879287	1490	13812											
SLC32A1	140679	broad.mit.edu	37	chr20	37357184	37357184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccaagtcttcttcgacGtcgccatcttcgtcatcggc	9	15	4	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:37357184G>A	uc002xjc.2	+	2	1743	c.1480G>A	c.(1480-1482)GTC>ATC	p.V494I		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	494	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTTCTTCGACGTCGCCATCTT	0.647													A	37357184	G	A	37357184	3	1	16	1	0	0	0	0	1	0	0	0	14565	1145	40	1	1486	1	SLC32A1	20	37357184	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	210951	37357184	25668336	1491	13813											
DHX35	60625	broad.mit.edu	37	chr20	37662959	37662959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacttttatcaacaaggaaCggtaggaatgaactgagtct	9	7	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:37662959C>T	uc002xjh.2	+	21	2077	c.2066C>T	c.(2065-2067)ACG>ATG	p.T689M	DHX35_uc010zwa.1_Missense_Mutation_p.T534M|DHX35_uc010zwb.1_Missense_Mutation_p.T534M|DHX35_uc010zwc.1_Missense_Mutation_p.T658M	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	689						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				CAACAAGGAACGGTAGGAATG	0.448													T	37662959	C	T	37662959	3	4	16	1	0	0	0	0	1	0	0	0	4508	550	19	1	2148	1	DHX35	20	37662959	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	305775	37662959	25362561	1492	13814											
HNF4A	3172	broad.mit.edu	37	chr20	43034816	43034816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacggtgcctcgagctgtgaCggctgcaagggcttcttccg	14	12	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:43034816C>T	uc002xma.2	+	2	323	c.234C>T	c.(232-234)GAC>GAT	p.D78D	HNF4A_uc010zwo.1_Missense_Mutation_p.T69M|HNF4A_uc002xlt.2_Silent_p.D56D|HNF4A_uc002xlu.2_Silent_p.D56D|HNF4A_uc002xlv.2_Silent_p.D56D|HNF4A_uc002xly.2_Silent_p.D78D|HNF4A_uc002xlz.2_Silent_p.D78D|HNF4A_uc010ggq.2_Silent_p.D71D	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	78	Nuclear receptor.|NR C4-type.				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGAGCTGTGACGGCTGCAAGG	0.547													T	43034816	C	T	43034816	2	4	16	1	0	0	0	0	0	0	0	1	7253	535	19	1		1	HNF4A	20	43034816	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	5371857	43034816	19990704	1493	13815											
WFDC8	90199	broad.mit.edu	37	chr20	44184357	44184357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaattaacatgcaggccGttctgcaggcatcctcattt	7	13	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:44184357G>A	uc002xow.2	-	4	507	c.428C>T	c.(427-429)ACG>ATG	p.T143M	WFDC8_uc002xox.2_Missense_Mutation_p.T143M	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8 precursor	143	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)				CATGCAGGCCGTTCTGCAGGC	0.368													A	44184357	G	A	44184357	3	1	16	1	0	0	0	0	1	0	0	0	17353	1145	40	1	309	1	WFDC8	20	44184357	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1149541	44184357	18841163	1494	13816											
MMP9	4318	broad.mit.edu	37	chr20	44641107	44641107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgcatgagttcggccacGcgctgggcttagatcattcc	13	13	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:44641107G>A	uc002xqz.2	+	8	1235	c.1216G>A	c.(1216-1218)GCG>ACG	p.A406T		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	406					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GTTCGGCCACGCGCTGGGCTT	0.637													A	44641107	G	A	44641107	3	1	16	1	0	0	0	0	1	0	0	0	9669	1087	38	1	1246	1	MMP9	20	44641107	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	456750	44641107	18384413	1495	13817											
SLC12A5	57468	broad.mit.edu	37	chr20	44685876	44685876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcatcgtgaagaaatccCgggacgccaagcttgttttg	12	9	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:44685876C>T	uc010zxl.1	+	25	3338	c.3262C>T	c.(3262-3264)CGG>TGG	p.R1088W	SLC12A5_uc002xrb.2_Missense_Mutation_p.R1065W	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	1088	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GAAGAAATCCCGGGACGCCAA	0.577													T	44685876	C	T	44685876	3	4	16	1	0	0	0	0	1	0	0	0	14386	643	23	1	3416	1	SLC12A5	20	44685876	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	44769	44685876	18339644	1496	13818											
CDH22	64405	broad.mit.edu	37	chr20	44815281	44815281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagcttcaggcaccaggcGgaaatagaagcggtgcccgc	16	11	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:44815281G>A	uc002xrm.2	-	9	2010	c.1609C>T	c.(1609-1611)CGC>TGC	p.R537C	CDH22_uc010ghk.1_Missense_Mutation_p.R537C	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	537	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				GGCACCAGGCGGAAATAGAAG	0.587													A	44815281	G	A	44815281	3	1	16	1	0	0	0	0	1	0	0	0	3107	1116	39	1	889	1	CDH22	20	44815281	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	129405	44815281	18210239	1497	13819											
ARFGEF2	10564	broad.mit.edu	37	chr20	47605849	47605849	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtgaaaagcagcggcggcTgctgtacaacttagagatgg	14	7	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:47605849T>G	uc002xtx.3	+	19	2713	c.2561T>G	c.(2560-2562)CTG>CGG	p.L854R	ARFGEF2_uc010zyf.1_Missense_Mutation_p.L147R	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	854					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CAGCGGCGGCTGCTGTACAAC	0.393													G	47605849	T	G	47605849	3	3	16	1	0	0	0	0	1	0	0	0	853	1580	55	5	2635	5	ARFGEF2	20	47605849	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	2790568	47605849	15419671	1498	13820											
ARFGEF2	10564	broad.mit.edu	37	chr20	47611069	47611069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctacctgtctggatctgggCgtgaaagagaagggagcctg	16	8	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:47611069C>T	uc002xtx.3	+	22	3207	c.3055C>T	c.(3055-3057)CGT>TGT	p.R1019C	ARFGEF2_uc010zyf.1_Missense_Mutation_p.R312C	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	1019					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGGATCTGGGCGTGAAAGAGA	0.557													T	47611069	C	T	47611069	3	4	16	1	0	0	0	0	1	0	0	0	853	768	27	1	3141	1	ARFGEF2	20	47611069	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	5220	47611069	15414451	1499	13821											
SNAI1	6615	broad.mit.edu	37	chr20	48604589	48604589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctgctcaggatgtccccGctgaccctcgaggctccctc	11	18	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:48604589G>A	uc002xuz.2	+	3	861	c.791G>A	c.(790-792)CGC>CAC	p.R264H		NM_005985	NP_005976	O95863	SNAI1_HUMAN	snail 1 homolog	264					epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GGATGTCCCCGCTGACCCTCG	0.612													A	48604589	G	A	48604589	3	1	16	1	0	0	0	0	1	0	0	0	14826	1087	38	1	801	1	SNAI1	20	48604589	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	993520	48604589	14420931	1500	13822											
ADNP	23394	broad.mit.edu	37	chr20	49508895	49508895	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actggctgctagcttctcaaTttctctcctggtgggatagg	11	10	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:49508895T>G	uc002xvt.1	-	5	2701	c.2356A>C	c.(2356-2358)ATT>CTT	p.I786L	ADNP_uc002xvu.1_Missense_Mutation_p.I786L	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	786	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						AGCTTCTCAATTTCTCTCCTG	0.413													G	49508895	T	G	49508895	3	3	16	1	0	0	0	0	1	0	0	0	323	1493	52	5	956	5	ADNP	20	49508895	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	904306	49508895	13516625	1501	13823											
ZNF217	7764	broad.mit.edu	37	chr20	52193292	52193292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtatctgcagtcagctgCggtctccgtttgcttctctt	9	13	4	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:52193292C>T	uc002xwq.3	-	3	2282	c.2011G>A	c.(2011-2013)GCA>ACA	p.A671T	ZNF217_uc010gij.1_Missense_Mutation_p.A663T	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	671					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CAGTCAGCTGCGGTCTCCGTT	0.483													T	52193292	C	T	52193292	3	4	16	1	0	0	0	0	1	0	0	0	17769	768	27	1	1143	1	ZNF217	20	52193292	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2684397	52193292	10832228	1502	13824											
NPEPL1	79716	broad.mit.edu	37	chr20	57269569	57269569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcaggtgcctctcggcGcttggagaagaagacggtca	14	12	3	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:57269569G>A	uc010zzs.1	+	3	523	c.428G>A	c.(427-429)CGC>CAC	p.R143H	NPEPL1_uc010zzr.1_Missense_Mutation_p.R95H|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.R115H|NPEPL1_uc002xzp.2_Missense_Mutation_p.R31H	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	143					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity				0	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			GCCTCTCGGCGCTTGGAGAAG	0.637													A	57269569	G	A	57269569	3	1	16	1	0	0	0	0	1	0	0	0	10574	1087	38	1	284	1	NPEPL1	20	57269569	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	5076277	57269569	5755951	1503	13825											
ZNF831	128611	broad.mit.edu	37	chr20	57768886	57768886	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcagataatgcctttTcccccaagtacctcctcagg	7	16	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:57768886T>C	uc002yan.2	+	1	2812	c.2812T>C	c.(2812-2814)TCC>CCC	p.S938P		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	938						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					TAATGCCTTTTCCCCCAAGTA	0.637													C	57768886	T	C	57768886	3	2	16	1	0	0	0	0	1	0	0	0	18182	1783	62	3	2814	3	ZNF831	20	57768886	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	499317	57768886	5256634	1504	13826											
CDH26	60437	broad.mit.edu	37	chr20	58563985	58563985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattatgagactcgcccagcGcaaagcctcatcattgtcgt	9	12	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:58563985G>A	uc002ybe.2	+	9	1350	c.1050G>A	c.(1048-1050)GCG>GCA	p.A350A	CDH26_uc002ybf.1_5'UTR|CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	350	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CTCGCCCAGCGCAAAGCCTCA	0.572													A	58563985	G	A	58563985	2	1	16	1	0	0	0	0	0	0	0	1	3110	1074	38	1		1	CDH26	20	58563985	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	795099	58563985	4461535	1505	13827											
NTSR1	4923	broad.mit.edu	37	chr20	61341143	61341143	+	Frame_Shift_Del	DEL	C	C	-													catcagcgccatctggctcgCctcggccctgctggcggtgc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:61341143delC	uc002ydf.2	+	1	955	c.584delC	c.(583-585)GCCfs	p.A195fs		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	195	Helical; Name=4; (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			ATCTGGCTCGCCTCGGCCCTG	0.667													-	61341143	C	-	61341143	7	5	16	1	0	1	0	1	0	0	0	0	10710	739	26	0	586	0	NTSR1	20	61341143	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	2777158	61341143	1684377	1506	13828											
NTSR1	4923	broad.mit.edu	37	chr20	61391505	61391505	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcctggccacactggcctgCctctgcccggtgtggcggcg	14	16	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:61391505C>G	uc002ydf.2	+	4	1514	c.1143C>G	c.(1141-1143)TGC>TGG	p.C381W		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	381	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CACTGGCCTGCCTCTGCCCGG	0.627													G	61391505	C	G	61391505	3	3	16	1	0	0	0	0	1	0	0	0	10710	747	26	5	1157	5	NTSR1	20	61391505	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	50362	61391505	1634015	1507	13829											
YTHDF1	54915	broad.mit.edu	37	chr20	61834535	61834535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaccccccatgacaggccCgctctttgttttcattttag	6	16	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:61834535C>T	uc002yeh.2	-	4	1051	c.757G>A	c.(757-759)GGG>AGG	p.G253R	YTHDF1_uc011aaq.1_Missense_Mutation_p.G203R	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	253	Gln/Pro-rich.									ovary(2)	2						ATGACAGGCCCGCTCTTTGTT	0.572													T	61834535	C	T	61834535	3	4	16	1	0	0	0	0	1	0	0	0	17495	652	23	1	930	1	YTHDF1	20	61834535	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	443030	61834535	1190985	1508	13830											
KCNQ2	3785	broad.mit.edu	37	chr20	62070960	62070960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggacttactgcaggcagCgcgaagaaggagacaccgat	14	10	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:62070960C>T	uc002yey.1	-	6	1095	c.918G>A	c.(916-918)GCG>GCA	p.A306A	KCNQ2_uc002yez.1_Silent_p.A306A|KCNQ2_uc002yfa.1_Silent_p.A306A|KCNQ2_uc002yfb.1_Silent_p.A306A|KCNQ2_uc011aax.1_Silent_p.A306A|KCNQ2_uc002yfc.1_Silent_p.A306A	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	306	Helical; Name=Segment S6; (Potential).		A -> T (in EBN1; 20%-40% reduction of wt heteromeric current. Ratio of 1:1:2).		axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CTGCAGGCAGCGCGAAGAAGG	0.637													T	62070960	C	T	62070960	2	4	16	1	0	0	0	0	0	0	0	1	8083	755	27	1		1	KCNQ2	20	62070960	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	236425	62070960	954560	1509	13831											
SRMS	6725	broad.mit.edu	37	chr20	62178751	62178751	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggtccggctcgccgccCgccggccagatcttgtccca	11	19	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:62178751C>T	uc002yfi.1	-	1	107	c.66G>A	c.(64-66)GCG>GCA	p.A22A		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory	22							ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(1)|lung(1)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GCTCGCCGCCCGCCGGCCAGA	0.711													T	62178751	C	T	62178751	2	4	16	1	0	0	0	0	0	0	0	1	15151	639	23	1		1	SRMS	20	62178751	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	107791	62178751	846769	1510	13832											
PRIC285	85441	broad.mit.edu	37	chr20	62196899	62196899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgacagtgtccagcagcccGtcctccccgacggtcaccat	10	18	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:62196899G>A	uc002yfm.2	-	9	4168	c.3276C>T	c.(3274-3276)GAC>GAT	p.D1092D	PRIC285_uc002yfl.1_Silent_p.D523D	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1092					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CCAGCAGCCCGTCCTCCCCGA	0.682													A	62196899	G	A	62196899	2	1	16	1	0	0	0	0	0	0	0	1	12485	1136	40	1		1	PRIC285	20	62196899	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	18148	62196899	828621	1511	13833											
UCKL1	54963	broad.mit.edu	37	chr20	62577179	62577179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtccttcttccggctgtgCgtggtgaagtcataaatggg	13	9	2	1	rs61743506	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:62577179C>T	uc010gkn.2	-	4	604	c.561G>A	c.(559-561)ACG>ACA	p.T187T	UCKL1_uc011abm.1_Silent_p.T172T|UCKL1_uc011abn.1_RNA|UCKL1_uc011abo.1_RNA	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	187					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCCGGCTGTGCGTGGTGAAGT	0.592													T	62577179	C	T	62577179	2	4	16	1	0	0	0	0	0	0	0	1	16922	755	27	1		1	UCKL1	20	62577179	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	380280	62577179	448341	1512	13834											
ZNF512B	57473	broad.mit.edu	37	chr20	62598745	62598745	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctcacaggaatgtctcGgagggcctggttctcggctt	15	10	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:62598745G>A	uc002yhl.1	-	3	307	c.253C>T	c.(253-255)CGA>TGA	p.R85*		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGAATGTCTCGGAGGGCCTGG	0.622													A	62598745	G	A	62598745	4	1	16	1	0	0	0	0	0	1	0	0	17954	1124	39	1	2485	1	ZNF512B	20	62598745	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	21566	62598745	426775	1513	13835											
OPRL1	4987	broad.mit.edu	37	chr20	62729786	62729786	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggagtccgcctgctctcGggctcccgagagaaggaccg	15	14	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr20:62729786G>A	uc002yic.2	+	5	1149	c.747G>A	c.(745-747)TCG>TCA	p.S249S	OPRL1_uc002yid.2_Silent_p.S249S|OPRL1_uc002yif.3_Silent_p.S244S	NM_182647	NP_872588	P41146	OPRX_HUMAN	opiate receptor-like 1	249	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GCCTGCTCTCGGGCTCCCGAG	0.632													A	62729786	G	A	62729786	2	1	16	1	0	0	0	0	0	0	0	1	10886	1103	39	1		1	OPRL1	20	62729786	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	131041	62729786	295734	1514	13836											
NRIP1	8204	broad.mit.edu	37	chr21	16338141	16338141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacactggtaaggcaggtgcGcttctctgcacagcaggagc	14	11	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr21:16338141G>A	uc002yjx.2	-	4	2971	c.2373C>T	c.(2371-2373)AGC>AGT	p.S791S		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	791	Repression domain 3.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AGGCAGGTGCGCTTCTCTGCA	0.468													A	16338141	G	A	16338141	2	1	16	1	0	0	0	0	0	0	0	1	10652	1078	38	1		1	NRIP1	21	16338141	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08		16338141	31791754	1515	13837											
GRIK1	2897	broad.mit.edu	37	chr21	30949413	30949413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaggcagccagattggcCgtgtaggatgaaatgatgat	14	5	0	5	rs142518822	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr21:30949413C>T	uc002yno.1	-	14	2465	c.2001G>A	c.(1999-2001)ACG>ACA	p.T667T	GRIK1_uc002ynn.2_Silent_p.T652T|GRIK1_uc011acs.1_Silent_p.T667T|GRIK1_uc011act.1_Silent_p.T528T	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	667	Helical; (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CCAGATTGGCCGTGTAGGATG	0.463													T	30949413	C	T	30949413	2	4	16	1	0	0	0	0	0	0	0	1	6773	639	23	1		1	GRIK1	21	30949413	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	14611272	30949413	17180482	1516	13838											
KRTAP15-1	254950	broad.mit.edu	37	chr21	31812904	31812904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccatcttctgcagtcccCgccagactaactacataaga	5	14	2	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr21:31812904C>T	uc002yod.2	+	1	259	c.259C>T	c.(259-261)CGC>TGC	p.R87C		NM_181623	NP_853654	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	87						intermediate filament					0						CTGCAGTCCCCGCCAGACTAA	0.522													T	31812904	C	T	31812904	3	4	16	1	0	0	0	0	1	0	0	0	8526	652	23	1	261	1	KRTAP15-1	21	31812904	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	863491	31812904	16316991	1517	13839											
TIAM1	7074	broad.mit.edu	37	chr21	32493037	32493037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtcagtgtccccaccaccGgggggctgctgggactcttt	14	14	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr21:32493037G>A	uc002yow.1	-	29	4897	c.4425C>T	c.(4423-4425)CCC>CCT	p.P1475P	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Silent_p.P1415P	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1475					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CCCCACCACCGGGGGGCTGCT	0.572													A	32493037	G	A	32493037	2	1	16	1	0	0	0	0	0	0	0	1	15887	1103	39	1		1	TIAM1	21	32493037	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	680133	32493037	15636858	1518	13840											
MRAP	56246	broad.mit.edu	37	chr21	33684272	33684272	+	Frame_Shift_Del	DEL	C	C	-													ggagcaagcccagcgagcctCcccctggagacaggacctct							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr21:33684271_33684271TC>T	uc002ypj.3	+	4	670	c.483_483TC>T	c.(481-483)cctfs	p.P161fs	MRAP_uc002ypk.3_Intron|URB1_uc002ypn.2_3'UTR|MRAP_uc011ado.2_Frame_Shift_Del_p.P102fs|MRAP_uc002ypl.3_Frame_Shift_Del_p.P161fs	NM_178817	NP_848932	Q8TCY5	MRAP_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein (MRAP), transcript variant 1, mRNA.	161					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	p.E160E(1)		endometrium(1)|large_intestine(2)|lung(3)	6						CCAGCGAGCCTCCCCCTGGAG	0.587													-	33684272	C	-	33684272	7	5	16	1	0	1	0	1	0	0	0	0	9753	855	30	0	494	0	MRAP	21	33684272	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	1191235	33684272	14445623	1519	13841											
GART	2618	broad.mit.edu	37	chr21	34903066	34903066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagtcttcgggaagtaccTgaggggctggacaataggct	15	8	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr21:34903066T>C	uc002yrx.2	-	7	857	c.722A>G	c.(721-723)CAG>CGG	p.Q241R	GART_uc002yrz.2_Missense_Mutation_p.Q241R|GART_uc010gmd.2_5'UTR|GART_uc002yry.2_Missense_Mutation_p.Q241R|GART_uc002ysa.2_Missense_Mutation_p.Q241R	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	241	ATP-grasp.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)	GGGAAGTACCTGAGGGGCTGG	0.483													C	34903066	T	C	34903066	3	2	16	1	0	0	0	0	1	0	0	0	6243	1594	55	3	2378	3	GART	21	34903066	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	1218794	34903066	13226829	1520	13842											
RCAN1	1827	broad.mit.edu	37	chr21	35890429	35890430	+	Frame_Shift_Ins	INS	-	-	T													ggcctcctggtctggataatINSttttggcttaggtctcctca							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr21:35890428_35890429A>AT	uc002yue.3	-	3	784_785	c.712_713T>AT	c.(712-714)attfs	p.I238fs	RCAN1_uc002yuc.3_Frame_Shift_Ins_p.I157fs|RCAN1_uc002yud.3_Frame_Shift_Ins_p.I103fs|RCAN1_uc002yub.3_Frame_Shift_Ins_p.I183fs	NM_004414	NP_004405	P53805	RCAN1_HUMAN	Homo sapiens regulator of calcineurin 1 (RCAN1), transcript variant 1, mRNA.	238					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						GGTCTGGATAATTTTTGGCTTA	0.51													T	35890430	-	T	35890429	7	5	16	1	0	1	1	0	0	0	0	0	13168	1493	52	0	50	0	RCAN1	21	35890429	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	987363	35890429	12239466	1521	13843											
SIM2	6493	broad.mit.edu	37	chr21	38115733	38115733	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccctggagcaggtgtcCactgccaagtcccaggactc	11	15	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr21:38115733C>A	uc002yvr.2	+	9	1100	c.1044C>A	c.(1042-1044)TCC>TCA	p.S348S	SIM2_uc002yvq.2_Silent_p.S348S	NM_005069	NP_005060	Q14190	SIM2_HUMAN	single-minded homolog 2 long isoform	348	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)	1						AGCAGGTGTCCACTGCCAAGT	0.537													A	38115733	C	A	38115733	2	1	16	1	0	0	0	0	0	0	0	1	14324	581	21	5		5	SIM2	21	38115733	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2225304	38115733	10014162	1522	13844											
TTC3	7267	broad.mit.edu	37	chr21	38498385	38498385	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatttcattggcaggtggcGgatgaggcgttgaaggtaga	16	4	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr21:38498385G>A	uc002yvz.2	+	15	1344	c.1239G>A	c.(1237-1239)GCG>GCA	p.A413A	TTC3_uc011aee.1_Silent_p.A103A|TTC3_uc002ywa.2_Silent_p.A413A|TTC3_uc002ywb.2_Silent_p.A413A|TTC3_uc010gnf.2_Silent_p.A178A|TTC3_uc002ywc.2_Silent_p.A103A|TTC3_uc011aed.1_Silent_p.A103A|TTC3_uc010gne.1_Silent_p.A413A	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	413					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				GGCAGGTGGCGGATGAGGCGT	0.328													A	38498385	G	A	38498385	2	1	16	1	0	0	0	0	0	0	0	1	16694	1103	39	1		1	TTC3	21	38498385	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	382652	38498385	9631510	1523	13845											
TTC3	7267	broad.mit.edu	37	chr21	38555143	38555144	+	Frame_Shift_Del	DEL	AA	AA	-													aattaaaaaatggcaacaggAaaaaaaagaaatccaagaaa							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr21:38555142_38555143GAA>G	uc002yvz.3	+	35	4789_4790	c.4684_4685GAA>G	c.(4684-4686)gaafs	p.E1562fs	TTC3_uc002ywa.3_Frame_Shift_Del_p.E1562fs|TTC3_uc002ywb.3_Frame_Shift_Del_p.E1562fs|TTC3_uc010gnf.3_Frame_Shift_Del_p.E1327fs|TTC3_uc002ywc.3_Frame_Shift_Del_p.E1252fs|TTC3_uc002ywd.1_Frame_Shift_Del_p.E626fs	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1562					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATGGCAACAGGAAAAAAAAGAA	0.287													-	38555144	AA	-	38555143	7	5	16	1	0	1	0	1	0	0	0	0	16694	246	9	0	4823	0	TTC3	21	38555143	Frame_Shift_Del	DEL	AA	TCGA-BR-4292-01A-01D-1126-08	56758	38555143	9574752	1524	13846											
DSCR3	10311	broad.mit.edu	37	chr21	38600102	38600102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgcgggcatagccttctgCacaccctgcgggagggaggc	16	13	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr21:38600102C>T	uc002ywf.1	-	8	903	c.664G>A	c.(664-666)GCA>ACA	p.A222T	DSCR3_uc010gnm.1_RNA|DSCR3_uc010gnn.1_Missense_Mutation_p.A180T|DSCR3_uc010gnl.2_Missense_Mutation_p.A195T|DSCR3_uc011aeg.1_Missense_Mutation_p.A145T|DSCR3_uc011aeh.1_Missense_Mutation_p.A97T	NM_006052	NP_006043	O14972	DSCR3_HUMAN	Down syndrome critical region protein 3	222					vacuolar transport	nucleus|retromer complex					0						TAGCCTTCTGCACACCCTGCG	0.642													T	38600102	C	T	38600102	3	4	16	1	0	0	0	0	1	0	0	0	4771	710	25	2	237	2	DSCR3	21	38600102	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	44959	38600102	9529793	1525	13847											
RIPK4	54101	broad.mit.edu	37	chr21	43161498	43161498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgatgaggatgcgggccaCgcggtagtgcccgcgctgtg	18	11	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr21:43161498C>T	uc002yzn.1	-	8	1903	c.1855G>A	c.(1855-1857)GTG>ATG	p.V619M		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	619						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						ATGCGGGCCACGCGGTAGTGC	0.687													T	43161498	C	T	43161498	3	4	16	1	0	0	0	0	1	0	0	0	13383	536	19	1	503	1	RIPK4	21	43161498	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	4561396	43161498	4968397	1526	13848											
RIPK4	54101	broad.mit.edu	37	chr21	43165935	43165936	+	Frame_Shift_Ins	INS	-	-	G													tacctcgctcctgggctccgINSgggggcttttcacgtccaga					rs144324321		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr21:43165934_43165935C>CG	uc002yzn.1	-	5	968_969	c.920_921G>CG	c.(919-921)ccgfs	p.P307fs		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	307						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCTGGGCTCCGGGGGGCTTTT	0.535													G	43165936	-	G	43165935	7	5	16	1	0	1	1	0	0	0	0	0	13383	1116	39	0	1446	0	RIPK4	21	43165935	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	4437	43165935	4963960	1527	13849											
UMODL1	89766	broad.mit.edu	37	chr21	43531694	43531694	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggccacttcctgtggcatGccacccgttccacccgggaa	10	18	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr21:43531694G>T	uc002zaf.1	+	12	1978	c.1978G>T	c.(1978-1980)GCC>TCC	p.A660S	UMODL1_uc002zad.1_Missense_Mutation_p.A588S|UMODL1_uc002zae.1_Missense_Mutation_p.A716S|UMODL1_uc002zag.1_Missense_Mutation_p.A788S	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	660	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						CCTGTGGCATGCCACCCGTTC	0.617													T	43531694	G	T	43531694	3	4	16	1	0	0	0	0	1	0	0	0	16977	1319	46	5	2404	5	UMODL1	21	43531694	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	365759	43531694	4598201	1528	13850											
CBS	875	broad.mit.edu	37	chr21	44480625	44480625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcctgcgcggccttcacGgccaccgccaccgtgctgcc	11	20	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr21:44480625G>A	uc002zcu.2	-	12	1316	c.1071C>T	c.(1069-1071)GCC>GCT	p.A357A	CBS_uc002zcs.1_Silent_p.A252A|CBS_uc002zct.2_Silent_p.A357A|CBS_uc002zcw.3_Silent_p.A357A|CBS_uc002zcv.2_Silent_p.A357A|CBS_uc002zcx.2_5'UTR	NM_000071	NP_000062	P35520	CBS_HUMAN	cystathionine-beta-synthase	357					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding				0					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CGGCCTTCACGGCCACCGCCA	0.652													A	44480625	G	A	44480625	2	1	16	1	0	0	0	0	0	0	0	1	2711	1103	39	1		1	CBS	21	44480625	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	948931	44480625	3649270	1529	13851											
RRP1	8568	broad.mit.edu	37	chr21	45219516	45219516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacgacagggacagtggcGgccccgttctccaggtgggt	17	11	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr21:45219516G>A	uc002zds.2	+	9	970	c.877G>A	c.(877-879)GGC>AGC	p.G293S	RRP1_uc011aez.1_Missense_Mutation_p.G293S|RRP1_uc010gpk.1_Missense_Mutation_p.G143S|RRP1_uc010gpl.1_Missense_Mutation_p.G191S|RRP1_uc010gpm.1_Missense_Mutation_p.G160S	NM_003683	NP_003674	P56182	RRP1_HUMAN	ribosomal RNA processing 1 homolog	293					rRNA processing	nucleolus|preribosome, small subunit precursor					0				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		GGACAGTGGCGGCCCCGTTCT	0.637													A	45219516	G	A	45219516	3	1	16	1	0	0	0	0	1	0	0	0	13685	1116	39	1	911	1	RRP1	21	45219516	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	738891	45219516	2910379	1530	13852											
PWP2	5822	broad.mit.edu	37	chr21	45535691	45535691	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgcagcgggaggaggaAgaggaggaggaggaggacca	21	5	0	1	rs145366296		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr21:45535691A>G	uc002zeb.2	+	7	816	c.726A>G	c.(724-726)GAA>GAG	p.E242E		NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	242	Poly-Glu.					cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		Gggaggaggaagaggaggagg	0.517													G	45535691	A	G	45535691	2	3	16	1	0	0	0	0	0	0	0	1	12844	69	3	3		3	PWP2	21	45535691	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	316175	45535691	2594204	1531	13853											
TRPM2	7226	broad.mit.edu	37	chr21	45798982	45798982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggccaacctgcctgtctcgGacatcactatctccctgatc	7	16	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr21:45798982G>A	uc002zet.1	+	9	1330	c.1117G>A	c.(1117-1119)GAC>AAC	p.D373N	TRPM2_uc002zeu.1_Missense_Mutation_p.D373N|TRPM2_uc002zew.1_Missense_Mutation_p.D373N|TRPM2_uc010gpt.1_Missense_Mutation_p.D373N|TRPM2_uc002zex.1_Missense_Mutation_p.D159N	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	373	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GCCTGTCTCGGACATCACTAT	0.582													A	45798982	G	A	45798982	3	1	16	1	0	0	0	0	1	0	0	0	16583	1174	41	4	1147	4	TRPM2	21	45798982	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	263291	45798982	2330913	1532	13854											
TRPM2	7226	broad.mit.edu	37	chr21	45825802	45825802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggctcatcccggcgaCgctgtaccccgggcgcgtca	14	17	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr21:45825802C>T	uc002zet.1	+	19	2885	c.2672C>T	c.(2671-2673)ACG>ATG	p.T891M	TRPM2_uc002zeu.1_Missense_Mutation_p.T891M|TRPM2_uc002zew.1_Missense_Mutation_p.T891M|TRPM2_uc010gpt.1_Missense_Mutation_p.T891M|TRPM2_uc002zex.1_Missense_Mutation_p.T677M|TRPM2_uc002zey.1_Missense_Mutation_p.T404M	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	891	Helical; (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						ATCCCGGCGACGCTGTACCCC	0.637													T	45825802	C	T	45825802	3	4	16	1	0	0	0	0	1	0	0	0	16583	536	19	1	2742	1	TRPM2	21	45825802	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	26820	45825802	2304093	1533	13855											
ADARB1	104	broad.mit.edu	37	chr21	46596311	46596311	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accaccattcccacccccgaGtgggaagaatcccgtgatga	9	15	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr21:46596311G>T	uc002zgy.2	+	4	1130	c.695G>T	c.(694-696)AGT>ATT	p.S232I	ADARB1_uc002zgr.2_Missense_Mutation_p.S232I|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.S232I|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.S232I|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA|ADARB1_uc011afo.1_Missense_Mutation_p.S281I	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	232	DRBM 2.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		CCACCCCCGAGTGGGAAGAAT	0.597													T	46596311	G	T	46596311	3	4	16	1	0	0	0	0	1	0	0	0	282	1029	36	5	701	5	ADARB1	21	46596311	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	770509	46596311	1533584	1534	13856											
PCBP3	54039	broad.mit.edu	37	chr21	47360075	47360075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaccatcacggggaccccGgccaacatcagccttgccca	8	18	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr21:47360075G>A	uc002zhq.1	+	13	1166	c.1041G>A	c.(1039-1041)CCG>CCA	p.P347P	PCBP3_uc002zhp.1_Silent_p.P327P|PCBP3_uc002zhs.1_Silent_p.P321P|PCBP3_uc002zhr.1_Silent_p.P346P|PCBP3_uc002zht.1_Silent_p.P337P	NM_020528	NP_065389	P57721	PCBP3_HUMAN	poly(rC) binding protein 3 isoform 1	347	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			skin(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CGGGGACCCCGGCCAACATCA	0.572													A	47360075	G	A	47360075	2	1	16	1	0	0	0	0	0	0	0	1	11502	1103	39	1		1	PCBP3	21	47360075	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	763764	47360075	769820	1535	13857											
MCM3AP	8888	broad.mit.edu	37	chr21	47704673	47704673	+	Frame_Shift_Del	DEL	A	A	-													ctaattgggtgggaaaatgtAaaaaacccagaagcaatttg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr21:47704672_47704672TA>T	uc002zir.1	-	0	565	c.529_529TA>A	c.(529-531)acafs	p.T177fs	YBEY_uc002zit.1_5'Flank|YBEY_uc002ziu.1_5'Flank|YBEY_uc010gqh.3_5'Flank|YBEY_uc002ziv.3_5'Flank|YBEY_uc002ziw.3_5'Flank|YBEY_uc002zix.3_5'Flank|YBEY_uc002ziy.3_5'Flank	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	177					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGGGAAAATGTAAAAAACCCA	0.433													-	47704673	A	-	47704673	7	5	16	1	0	1	0	1	0	0	0	0	9388	359	13	0	5526	0	MCM3AP	21	47704673	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	344598	47704673	425222	1536	13858											
CCT8L2	150160	broad.mit.edu	37	chr22	17072267	17072267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcaatgccgtggtagaCggcctgctctgcactccgca	12	14	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:17072267C>T	uc002zlp.1	-	1	1434	c.1174G>A	c.(1174-1176)GTC>ATC	p.V392I		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	392					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCGTGGTAGACGGCCTGCTCT	0.542													T	17072267	C	T	17072267	3	4	16	1	0	0	0	0	1	0	0	0	2961	536	19	1	503	1	CCT8L2	22	17072267	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08		17072267	34232299	1537	13859											
CCT8L2	150160	broad.mit.edu	37	chr22	17072678	17072678	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagacgggccgttgctggtgCatttggatgggcaggaccaa	16	8	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:17072678C>A	uc002zlp.1	-	1	1023	c.763G>T	c.(763-765)GCA>TCA	p.A255S		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	255					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTTGCTGGTGCATTTGGATGG	0.507													A	17072678	C	A	17072678	3	1	16	1	0	0	0	0	1	0	0	0	2961	710	25	5	914	5	CCT8L2	22	17072678	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	411	17072678	34231888	1538	13860											
DGCR2	9993	broad.mit.edu	37	chr22	19055664	19055664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcgtggaagtgcgaagggtCgcctcctctggcccgcccct	14	16	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:19055664C>T	uc002zoq.1	-	3	525	c.277G>A	c.(277-279)GAC>AAC	p.D93N	DGCR2_uc002zor.1_5'UTR|DGCR2_uc011agr.1_Missense_Mutation_p.D52N	NM_005137	NP_005128	P98153	IDD_HUMAN	integral membrane protein DGCR2 precursor	93	Extracellular (Potential).				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			large_intestine(1)	1	Colorectal(54;0.0993)					TGCGAAGGGTCGCCTCCTCTG	0.627													T	19055664	C	T	19055664	3	4	16	1	0	0	0	0	1	0	0	0	4461	884	31	1	1407	1	DGCR2	22	19055664	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1982986	19055664	32248902	1539	13861											
HIRA	7290	broad.mit.edu	37	chr22	19379688	19379688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacgggcagctaggcttcGcagaactcccattcttctgc	10	13	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:19379688G>A	uc002zpf.1	-	9	1092	c.872C>T	c.(871-873)GCG>GTG	p.A291V	HIRA_uc011agx.1_Missense_Mutation_p.A157V|HIRA_uc010grn.1_Missense_Mutation_p.A291V|HIRA_uc010gro.1_Missense_Mutation_p.A247V|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	291	WD 6.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					GCTAGGCTTCGCAGAACTCCC	0.458													A	19379688	G	A	19379688	3	1	16	1	0	0	0	0	1	0	0	0	7120	1087	38	1	2249	1	HIRA	22	19379688	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	324024	19379688	31924878	1540	13862											
KLHL22	84861	broad.mit.edu	37	chr22	20819360	20819360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcccccgaagcccacaacGcactggaagtccgaccgcag	10	17	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:20819360G>A	uc002zsl.1	-	4	1006	c.897C>T	c.(895-897)TGC>TGT	p.C299C	KLHL22_uc011ahr.1_Silent_p.C156C|KLHL22_uc002zsm.1_Silent_p.C299C	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	299	Kelch 1.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGCCCACAACGCACTGGAAGT	0.617													A	20819360	G	A	20819360	2	1	16	1	0	0	0	0	0	0	0	1	8377	1079	38	1		1	KLHL22	22	20819360	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1439672	20819360	30485206	1541	13863											
SERPIND1	3053	broad.mit.edu	37	chr22	21134078	21134079	+	Frame_Shift_Ins	INS	-	-	CCTGC													agcacccgttggcatttctaINSctgcgatgggtatgatttcc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:21134077_21134078T>TCCTGC	uc002ztc.2	+	0	564_565	c.561_562T>TCCTGC	c.(559-564)tctactfs	p.S187fs	PI4KA_uc002zsz.4_Intron|SERPIND1_uc002ztb.1_Frame_Shift_Ins_p.S159fs	NM_000185	NP_000176	P05546	HEP2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade D (heparin cofactor), member 1 (SERPIND1), mRNA.	159					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	TTGGCATTTCTACTGCGATGGG	0.441													CCTGC	21134079	-	CCTGC	21134078	7	5	16	1	0	1	1	0	0	0	0	0	14110	391	14	0	480	0	SERPIND1	22	21134078	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	314718	21134078	30170488	1542	13864											
LZTR1	8216	broad.mit.edu	37	chr22	21351217	21351217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggcactggacatgaagCggcactgcctgcacatcatt	11	13	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:21351217C>T	uc002zto.2	+	20	2471	c.2368C>T	c.(2368-2370)CGG>TGG	p.R790W	LZTR1_uc002ztn.2_Missense_Mutation_p.R749W|LZTR1_uc011ahy.1_Missense_Mutation_p.R771W|LZTR1_uc002ztp.2_Missense_Mutation_p.R96W	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	790					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGACATGAAGCGGCACTGCCT	0.617													T	21351217	C	T	21351217	3	4	16	1	0	0	0	0	1	0	0	0	9137	759	27	1	2446	1	LZTR1	22	21351217	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	217139	21351217	29953349	1543	13865											
PIWIL3	440822	broad.mit.edu	37	chr22	25145382	25145382	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcacttactcttgtagagtAttgatgaattcttttaatgt	7	5	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:25145382A>G	uc003abd.1	-	11	1740	c.1323T>C	c.(1321-1323)AAT>AAC	p.N441N	PIWIL3_uc011ajx.1_Silent_p.N332N|PIWIL3_uc011ajy.1_Silent_p.N332N|PIWIL3_uc010gut.1_Silent_p.N441N	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	piwi-like 3	441					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4						CTTGTAGAGTATTGATGAATT	0.398													G	25145382	A	G	25145382	2	3	16	1	0	0	0	0	0	0	0	1	11959	446	16	3		3	PIWIL3	22	25145382	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	3794165	25145382	26159184	1544	13866											
HPS4	89781	broad.mit.edu	37	chr22	26861510	26861510	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctggacattcgggggcaaTgccgctcctggaattgcaaa	12	10	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:26861510T>C	uc003acl.2	-	10	1373	c.714A>G	c.(712-714)GCA>GCG	p.A238A	HPS4_uc003aci.2_Silent_p.A233A|HPS4_uc003acj.2_Silent_p.A102A|HPS4_uc003ack.2_Silent_p.A29A|HPS4_uc003acn.2_Silent_p.A84A|HPS4_uc010gvd.1_Silent_p.A256A|HPS4_uc003ach.2_5'UTR	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	238					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0						TCGGGGGCAATGCCGCTCCTG	0.527									Hermansky-Pudlak_syndrome				C	26861510	T	C	26861510	2	2	16	1	0	0	0	0	0	0	0	1	7341	1451	51	3		3	HPS4	22	26861510	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	1716128	26861510	24443056	1545	13867											
HPS4	89781	broad.mit.edu	37	chr22	26868359	26868359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgaaggtgtcccactccGtgctcagttcttcctgagaa	10	12	2	2	rs150403254	by1000genomes	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:26868359G>A	uc003acl.2	-	6	1069	c.410C>T	c.(409-411)ACG>ATG	p.T137M	HPS4_uc003aci.2_Missense_Mutation_p.T132M|HPS4_uc003acj.2_Translation_Start_Site|HPS4_uc003ack.2_Translation_Start_Site|HPS4_uc003acn.2_Translation_Start_Site|HPS4_uc010gvd.1_Missense_Mutation_p.T137M|HPS4_uc003ach.2_Translation_Start_Site	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	137					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0						GTCCCACTCCGTGCTCAGTTC	0.423									Hermansky-Pudlak_syndrome				A	26868359	G	A	26868359	3	1	16	1	0	0	0	0	1	0	0	0	7341	1145	40	1	1752	1	HPS4	22	26868359	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	6849	26868359	24436207	1546	13868											
CRYBB1	1414	broad.mit.edu	37	chr22	27012211	27012211	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttcctgcaggtggggcccCcttccccttggtgtcaggcc	13	15	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:27012211C>A	uc003acy.1	-	2	143	c.73G>T	c.(73-75)GGG>TGG	p.G25W		NM_001887	NP_001878	P53674	CRBB1_HUMAN	crystallin, beta B1	25	N-terminal arm.				visual perception		structural constituent of eye lens			ovary(1)	1						GGTGGGGCCCCCTTCCCCTTG	0.637													A	27012211	C	A	27012211	3	1	16	1	0	0	0	0	1	0	0	0	3910	623	22	5	705	5	CRYBB1	22	27012211	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	143852	27012211	24292355	1547	13869											
AP1B1	162	broad.mit.edu	37	chr22	29755831	29755831	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttcacaaaggtgttgacGgccataatggccatgtcagg	11	10	2	1	rs143484030	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:29755831G>A	uc003afj.2	-	4	445	c.261C>T	c.(259-261)GCC>GCT	p.A87A	AP1B1_uc003afi.2_Silent_p.A87A|AP1B1_uc003afk.2_Silent_p.A87A|AP1B1_uc003afl.2_Silent_p.A87A	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	87					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						AGGTGTTGACGGCCATAATGG	0.547											OREG0026449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	29755831	G	A	29755831	2	1	16	1	0	0	0	0	0	0	0	1	731	1103	39	1		1	AP1B1	22	29755831	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2743620	29755831	21548735	1548	13870											
MYH9	4627	broad.mit.edu	37	chr22	36702620	36702620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgcggtctccgacatgCcggccacctggtccaggccg	14	16	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:36702620C>T	uc003apg.2	-	16	2108	c.1877G>A	c.(1876-1878)GGC>GAC	p.G626D	MYH9_uc003aph.1_Missense_Mutation_p.G490D	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	626	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CTCCGACATGCCGGCCACCTG	0.637			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				T	36702620	C	T	36702620	3	4	16	1	0	0	0	0	1	0	0	0	10042	739	26	2	4109	2	MYH9	22	36702620	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	6946789	36702620	14601946	1549	13871											
MYH9	4627	broad.mit.edu	37	chr22	36708256	36708256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcagggccagaatgccCggggggcctgcctggaggaa	17	12	0	1	rs145517108	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:36708256C>T	uc003apg.2	-	14	1797	c.1566G>A	c.(1564-1566)CCG>CCA	p.P522P	MYH9_uc003aph.1_Silent_p.P386P	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	522	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CCAGAATGCCCGGGGGGCCTG	0.637			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				T	36708256	C	T	36708256	2	4	16	1	0	0	0	0	0	0	0	1	10042	639	23	1		1	MYH9	22	36708256	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	5636	36708256	14596310	1550	13872											
CARD10	29775	broad.mit.edu	37	chr22	37893150	37893150	+	Frame_Shift_Del	DEL	G	G	-													cctgcggctctgggccccctGgggggctccggccagacacc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:37893149_37893149TG>T	uc003asx.1	-	11	1841	c.1824_1824CA>A	c.(1822-1824)ccafs	p.P608fs	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asv.1_5'Flank|CARD10_uc011ank.1_5'Flank|CARD10_uc003asw.1_Frame_Shift_Del_p.P322fs|CARD10_uc003asy.1_Frame_Shift_Del_p.P608fs	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	608					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CTGGGCCCCCTGGGGGGCTCC	0.587													-	37893150	G	-	37893150	7	5	16	1	0	1	0	1	0	0	0	0	2644	1348	47	0	1311	0	CARD10	22	37893150	Frame_Shift_Del	DEL	G	TCGA-BR-4292-01A-01D-1126-08	1184894	37893150	13411416	1551	13873											
PLA2G6	8398	broad.mit.edu	37	chr22	38525530	38525530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggtgtccacttctgctcCgaacacgatgagggccttga	13	12	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:38525530C>T	uc003auy.1	-	8	1253	c.1117G>A	c.(1117-1119)GGA>AGA	p.G373R	PLA2G6_uc003auz.1_Missense_Mutation_p.G373R|PLA2G6_uc003ava.1_Missense_Mutation_p.G373R|PLA2G6_uc003avb.2_Missense_Mutation_p.G373R|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Missense_Mutation_p.G338R	NM_003560	NP_003551	O60733	PA2G6_HUMAN	phospholipase A2, group VI isoform a	373	ANK 7.				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				ovary(1)	1	Melanoma(58;0.045)				Quinacrine(DB01103)	ACTTCTGCTCCGAACACGATG	0.542													T	38525530	C	T	38525530	3	4	16	1	0	0	0	0	1	0	0	0	12008	661	23	1	1343	1	PLA2G6	22	38525530	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	632380	38525530	12779036	1552	13874											
KCNJ4	3761	broad.mit.edu	37	chr22	38823343	38823343	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaagcgggctgtcctcgtcGatctcgtggacaatgatgat	12	9	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:38823343G>A	uc003avs.1	-	2	892	c.795C>T	c.(793-795)ATC>ATT	p.I265I	KCNJ4_uc003avt.1_Silent_p.I265I	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	265	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					TGTCCTCGTCGATCTCGTGGA	0.617													A	38823343	G	A	38823343	2	1	16	1	0	0	0	0	0	0	0	1	8053	1048	37	1		1	KCNJ4	22	38823343	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	297813	38823343	12481223	1553	13875											
TAB1	10454	broad.mit.edu	37	chr22	39826041	39826041	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaagcccgaccttaaccctGcagtccaccaacacgcacac	5	19	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:39826041G>T	uc003axt.2	+	11	1378	c.1329G>T	c.(1327-1329)CTG>CTT	p.L443L	TAB1_uc003axr.2_Silent_p.L519L|TAB1_uc011aok.1_Silent_p.L277L|TAB1_uc003axu.1_Intron	NM_006116	NP_006107	Q15750	TAB1_HUMAN	mitogen-activated protein kinase kinase kinase 7	443					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)	1						CCTTAACCCTGCAGTCCACCA	0.672													T	39826041	G	T	39826041	2	4	16	1	0	0	0	0	0	0	0	1	15492	1306	46	5		5	TAB1	22	39826041	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1002698	39826041	11478525	1554	13876											
EP300	2033	broad.mit.edu	37	chr22	41564766	41564766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcagaatcctttccataccGaaccaaagccctctttgcct	6	15	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:41564766G>A	uc003azl.3	+	25	4462	c.4067G>A	c.(4066-4068)CGA>CAA	p.R1356Q		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1356					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						TTTCCATACCGAACCAAAGCC	0.468			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				A	41564766	G	A	41564766	3	1	16	1	0	0	0	0	1	0	0	0	5148	1058	37	1	4165	1	EP300	22	41564766	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1738725	41564766	9739800	1555	13877											
RANGAP1	5905	broad.mit.edu	37	chr22	41652106	41652106	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccttcttctcccagggtgTtgcctgctcaaggggaggga	14	11	3	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:41652106T>C	uc003azs.2	-	9	2462	c.992A>G	c.(991-993)AAC>AGC	p.N331S	RANGAP1_uc003azt.2_Missense_Mutation_p.N331S|RANGAP1_uc003azu.2_Missense_Mutation_p.N331S|RANGAP1_uc011aoz.1_Missense_Mutation_p.N276S	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	331	LRR 6.				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						TCCCAGGGTGTTGCCTGCTCA	0.632													C	41652106	T	C	41652106	3	2	16	1	0	0	0	0	1	0	0	0	13033	1725	60	3	799	3	RANGAP1	22	41652106	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	87340	41652106	9652460	1556	13878											
SCUBE1	80274	broad.mit.edu	37	chr22	43604220	43604220	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctcataggtggtgatggaCgtgggagaggctgcgggtga	20	5	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:43604220C>A	uc003bdt.1	-	20	2680	c.2592G>T	c.(2590-2592)ACG>ACT	p.T864T		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	864	CUB.				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				TGGTGATGGACGTGGGAGAGG	0.453													A	43604220	C	A	43604220	2	1	16	1	0	0	0	0	0	0	0	1	13944	523	19	5		5	SCUBE1	22	43604220	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1952114	43604220	7700346	1557	13879											
FBLN1	2192	broad.mit.edu	37	chr22	45972965	45972965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttttgacatcatcaagcGttacatggacggcatgaccg	9	11	3	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:45972965G>A	uc003bgj.1	+	16	2096	c.1949G>A	c.(1948-1950)CGT>CAT	p.R650H		NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	650					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATCATCAAGCGTTACATGGAC	0.597													A	45972965	G	A	45972965	3	1	16	1	0	0	0	0	1	0	0	0	5698	1145	40	1	2491	1	FBLN1	22	45972965	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2368745	45972965	5331601	1558	13880											
C22orf40	150383	broad.mit.edu	37	chr22	46643046	46643046	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcacaaactgcagcaCgagccgaggaccaggaatct	11	13	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:46643046C>T	uc003bhe.2	-	3	227	c.186G>A	c.(184-186)TCG>TCA	p.S62S	C22orf40_uc003bhc.2_Silent_p.S62S|C22orf40_uc003bhd.2_Silent_p.S62S|C22orf40_uc003bhf.2_RNA	NM_207327	NP_997210	Q6NVV7	CV040_HUMAN	hypothetical protein LOC150383	62											0						AACTGCAGCACGAGCCGAGGA	0.597													T	46643046	C	T	46643046	2	4	16	1	0	0	0	0	0	0	0	1	2148	523	19	1		1	C22orf40	22	46643046	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	670081	46643046	4661520	1559	13881											
PKDREJ	10343	broad.mit.edu	37	chr22	46658051	46658051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttgctccccaggattattCgatccccaccgtagtttctg	7	15	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:46658051C>T	uc003bhh.2	-	1	1169	c.1169G>A	c.(1168-1170)CGA>CAA	p.R390Q		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	390	Extracellular (Potential).|REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CAGGATTATTCGATCCCCACC	0.567													T	46658051	C	T	46658051	3	4	16	1	0	0	0	0	1	0	0	0	11970	884	31	1	5596	1	PKDREJ	22	46658051	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	15005	46658051	4646515	1560	13882											
CELSR1	9620	broad.mit.edu	37	chr22	46931227	46931227	+	Frame_Shift_Del	DEL	C	C	-													tcttaggcccagcgctgccgCcccccagaaaggtggaggcc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:46931227delC	uc003bhw.1	-	1	1841	c.1841delG	c.(1840-1842)GGCfs	p.G614fs		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	614	Extracellular (Potential).|Cadherin 4.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCGCTGCCGCCCCCCAGAAA	0.657													-	46931227	C	-	46931227	7	5	16	1	0	1	0	1	0	0	0	0	3221	739	26	0	7343	0	CELSR1	22	46931227	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	273176	46931227	4373339	1561	13883											
GRAMD4	23151	broad.mit.edu	37	chr22	47064782	47064782	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcctgcttcttcccctAccgcctggtggggcttgccg	12	17	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:47064782A>T	uc003bhx.2	+	12	1100	c.1061A>T	c.(1060-1062)TAC>TTC	p.Y354F	GRAMD4_uc010had.2_Missense_Mutation_p.Y293F	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	354	Helical; (Potential).				apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		TTCTTCCCCTACCGCCTGGTG	0.617													T	47064782	A	T	47064782	3	4	16	1	0	0	0	0	1	0	0	0	6752	391	14	5	1107	5	GRAMD4	22	47064782	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	133555	47064782	4239784	1562	13884											
ZBED4	9889	broad.mit.edu	37	chr22	50277679	50277680	+	Frame_Shift_Ins	INS	-	-	T													agtctccagcctggaagcatINSttttttatctctccccgaga							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:50277678_50277679A>AT	uc003bix.2	+	1	838_839	c.368_369A>AT	c.(367-369)catfs	p.H123fs	ZBED4_uc021wrx.1_Frame_Shift_Ins_p.H123fs	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	123						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCCTGGAAGCATTTTTTTATCT	0.51													T	50277680	-	T	50277679	7	5	16	1	0	1	1	0	0	0	0	0	17517	1490	52	0	371	0	ZBED4	22	50277679	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	3212897	50277679	1026887	1563	13885											
MOV10L1	54456	broad.mit.edu	37	chr22	50559005	50559005	+	Frame_Shift_Del	DEL	A	A	-													acttagaaaatgtgtggaacAaaaaattgacatcctgactt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:50559004_50559004CA>C	uc003bjj.3	+	9	1611	c.1528_1528CA>C	c.(1528-1530)caafs	p.Q510fs	MOV10L1_uc003bjk.4_Frame_Shift_Del_p.Q510fs|MOV10L1_uc011arp.2_Frame_Shift_Del_p.Q490fs|MOV10L1_uc011arq.1_Frame_Shift_Del_p.Q271fs|MOV10L1_uc010hao.1_Intron	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	510					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ATGTGTGGAACAAAAAATTGA	0.393													-	50559005	A	-	50559005	7	5	16	1	0	1	0	1	0	0	0	0	9719	130	5	0	1608	0	MOV10L1	22	50559005	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	281326	50559005	745561	1564	13886											
TUBGCP6	85378	broad.mit.edu	37	chr22	50663014	50663014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgttttgcaatttccataCgtaattcctgagaaagacaa	6	8	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:50663014C>T	uc003bkb.1	-	11	2503	c.1991G>A	c.(1990-1992)CGT>CAT	p.R664H	TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Missense_Mutation_p.R664H|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_5'UTR|TUBGCP6_uc003bkd.1_Missense_Mutation_p.R18H	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	664					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AATTTCCATACGTAATTCCTG	0.338													T	50663014	C	T	50663014	3	4	16	1	0	0	0	0	1	0	0	0	16767	536	19	1	3528	1	TUBGCP6	22	50663014	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	104009	50663014	641552	1565	13887											
PLXNB2	23654	broad.mit.edu	37	chr22	50716155	50716155	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaggatgttcacccagaaCcggagcggtaagctgaggca	14	9	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:50716155C>T	uc003bkv.3	-	33	5167	c.5061G>A	c.(5059-5061)CGG>CGA	p.R1687R	PLXNB2_uc003bkt.1_Silent_p.R479R|PLXNB2_uc003bku.1_Silent_p.R672R	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1687	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCACCCAGAACCGGAGCGGTA	0.642													T	50716155	C	T	50716155	2	4	16	1	0	0	0	0	0	0	0	1	12124	494	18	4		4	PLXNB2	22	50716155	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	53141	50716155	588411	1566	13888											
PLXNB2	23654	broad.mit.edu	37	chr22	50728968	50728968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcctcaggctggcacctgCgcccagcaggcccagcaggg	16	16	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:50728968C>T	uc003bkv.3	-	3	152	c.46G>A	c.(46-48)GCA>ACA	p.A16T		NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	16					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGGCACCTGCGCCCAGCAGG	0.677													T	50728968	C	T	50728968	3	4	16	1	0	0	0	0	1	0	0	0	12124	768	27	1	5610	1	PLXNB2	22	50728968	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	12813	50728968	575598	1567	13889											
SCO2	9997	broad.mit.edu	37	chr22	50962178	50962178	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggcaatggagtggtccacGatgtagtcctggtcctcatc	12	10	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:50962178G>A	uc003bma.2	-	2	839	c.663C>T	c.(661-663)ATC>ATT	p.I221I	SCO2_uc003blz.3_Silent_p.I221I	NM_005138	NP_005129	O43819	SCO2_HUMAN	cytochrome oxidase deficient homolog 2	221	Thioredoxin.				cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding				0		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGTGGTCCACGATGTAGTCCT	0.572													A	50962178	G	A	50962178	2	1	16	1	0	0	0	0	0	0	0	1	13932	1048	37	1		1	SCO2	22	50962178	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	233210	50962178	342388	1568	13890											
SHANK3	85358	broad.mit.edu	37	chr22	51160465	51160465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacacctccttcgctgacGgacacacttttctactcgag	6	17	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chr22:51160465G>A	uc003bne.1	+	22	4252	c.4252G>A	c.(4252-4254)GGA>AGA	p.G1418R	SHANK3_uc003bnf.1_Missense_Mutation_p.G865R|SHANK3_uc010hbg.1_Missense_Mutation_p.G600R	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1418										central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CTTCGCTGACGGACACACTTT	0.617													A	51160465	G	A	51160465	3	1	16	1	0	0	0	0	1	0	0	0	14266	1117	39	1	4338	1	SHANK3	22	51160465	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	198287	51160465	144101	1569	13891											
PPP2R3B	28227	broad.mit.edu	37	chrX	302052	302052	+	Frame_Shift_Del	DEL	T	T	-													aggaacccacctggtcggtgTttttttgtcttcctcagaga							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:302051_302051GT>G	uc004cpg.3	-	8	1430	c.1166_1166AC>C	c.(1165-1167)acafs	p.T389fs	PPP2R3B_uc004cpf.3_5'UTR	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA.	389	EF-hand.				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGGTCGGTGTTTTTTTGTC	0.562													-	302052	T	-	302052	7	5	16	1	0	1	0	1	0	0	0	0	12389	1725	60	0	582	0	PPP2R3B	23	302052	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08		302052	154968508	1570	13892											
IL3RA	3563	broad.mit.edu	37	chrX	1471117	1471117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtacgacctgtacttgaaCgttgccaagtaggtgtgccc	11	11	0	1	rs142385163	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:1471117C>T	uc004cps.2	+	5	772	c.423C>T	c.(421-423)AAC>AAT	p.N141N	IL3RA_uc011mhd.1_Silent_p.N63N	NM_002183	NP_002174	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha precursor	141	Extracellular (Potential).					integral to membrane|plasma membrane	interleukin-3 receptor activity			skin(2)|lung(1)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGTACTTGAACGTTGCCAAGT	0.647													T	1471117	C	T	1471117	2	4	16	1	0	0	0	0	0	0	0	1	7695	535	19	1		1	IL3RA	23	1471117	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1169065	1471117	153799443	1571	13893											
SFRS17A	8227	broad.mit.edu	37	chrX	1712726	1712726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagatcgacttccccacccGccacgactgggactccttct	7	18	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:1712726G>A	uc004cqa.2	+	2	567	c.371G>A	c.(370-372)CGC>CAC	p.R124H	SFRS17A_uc010ncx.1_Missense_Mutation_p.R124H|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	124					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCCCCACCCGCCACGACTGG	0.647													A	1712726	G	A	1712726	3	1	16	1	0	0	0	0	1	0	0	0	14173	1087	38	1	373	1	SFRS17A	23	1712726	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	241609	1712726	153557834	1572	13894											
ARSD	414	broad.mit.edu	37	chrX	2825515	2825515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtcgggggtcaggggccGtgcctcggaggggtccctgg	22	10	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:2825515G>A	uc004cqy.2	-	10	1655	c.1579C>T	c.(1579-1581)CGG>TGG	p.R527W	ARSD_uc004cqz.1_RNA	NM_001669	NP_001660	P51689	ARSD_HUMAN	arylsulfatase D isoform a precursor	527						lysosome	arylsulfatase activity|metal ion binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTCAGGGGCCGTGCCTCGGAG	0.687													A	2825515	G	A	2825515	3	1	16	1	0	0	0	0	1	0	0	0	989	1144	40	1	206	1	ARSD	23	2825515	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1112789	2825515	152445045	1573	13895											
MXRA5	25878	broad.mit.edu	37	chrX	3240641	3240641	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtagatgtgattggcctgGgacacctggttcccctatag	12	9	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:3240641G>T	uc004crg.3	-	5	3242	c.3085C>A	c.(3085-3087)CCA>ACA	p.P1029T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1029						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GATTGGCCTGGGACACCTGGT	0.443													T	3240641	G	T	3240641	3	4	16	1	0	0	0	0	1	0	0	0	10003	1232	43	5	5413	5	MXRA5	23	3240641	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	415126	3240641	152029919	1574	13896											
SHROOM2	357	broad.mit.edu	37	chrX	9914758	9914758	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatccagcagcacgaggaCgccaaggagctcaaggagaa	13	11	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:9914758C>T	uc004csu.1	+	10	4722	c.4632C>T	c.(4630-4632)GAC>GAT	p.D1544D	SHROOM2_uc004csv.2_Silent_p.D378D|SHROOM2_uc011mic.1_Silent_p.D379D|SHROOM2_uc004csw.1_Silent_p.D379D	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	1544	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				AGCACGAGGACGCCAAGGAGC	0.557													T	9914758	C	T	9914758	2	4	16	1	0	0	0	0	0	0	0	1	14294	535	19	1		1	SHROOM2	23	9914758	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	6674117	9914758	145355802	1575	13897											
FRMPD4	9758	broad.mit.edu	37	chrX	12722594	12722594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatcaaaacttggtaccacCgggtaaaaaggtatcacatt	7	8	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:12722594C>T	uc004cuz.1	+	11	1693	c.1187C>T	c.(1186-1188)CCG>CTG	p.P396L	FRMPD4_uc011mij.1_Missense_Mutation_p.P388L	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	396	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						TTGGTACCACCGGGTAAAAAG	0.338													T	12722594	C	T	12722594	3	4	16	1	0	0	0	0	1	0	0	0	6059	652	23	1	1229	1	FRMPD4	23	12722594	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2807836	12722594	142547966	1576	13898											
TLR8	51311	broad.mit.edu	37	chrX	12939203	12939203	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttaaagttttttaactggAcattactccagcagtttcct	6	8	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:12939203A>G	uc004cve.2	+	2	2112	c.2044A>G	c.(2044-2046)ACA>GCA	p.T682A	TLR8_uc004cvd.2_Missense_Mutation_p.T700A	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	682	Extracellular (Potential).|LRR 20.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						TTTTAACTGGACATTACTCCA	0.378													G	12939203	A	G	12939203	3	3	16	1	0	0	0	0	1	0	0	0	15954	275	10	3	2050	3	TLR8	23	12939203	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	216609	12939203	142331357	1577	13899											
TLR8	51311	broad.mit.edu	37	chrX	12939876	12939876	+	Frame_Shift_Del	DEL	A	A	-													tgagctgcgctaccaccttgAagagagccgagacaaaaacg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:12939876delA	uc004cve.2	+	2	2785	c.2717delA	c.(2716-2718)GAAfs	p.E906fs	TLR8_uc004cvd.2_Frame_Shift_Del_p.E924fs	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	906	Cytoplasmic (Potential).|TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						TACCACCTTGAAGAGAGCCGA	0.468													-	12939876	A	-	12939876	7	5	16	1	0	1	0	1	0	0	0	0	15954	246	9	0	2723	0	TLR8	23	12939876	Frame_Shift_Del	DEL	A	TCGA-BR-4292-01A-01D-1126-08	673	12939876	142330684	1578	13900											
ACE2	59272	broad.mit.edu	37	chrX	15607507	15607507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcttcaatcaactggccgCggctgtagtcatagccatct	8	13	5	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:15607507C>T	uc004cxa.1	-	5	824	c.656G>A	c.(655-657)CGC>CAC	p.R219H	ACE2_uc004cxb.2_Missense_Mutation_p.R219H	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2 precursor	219	Extracellular (Potential).			R->D: No effect on interaction with SARS- CoV spike glycoprotein.	angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			ovary(3)	3	Hepatocellular(33;0.183)				Moexipril(DB00691)	CAACTGGCCGCGGCTGTAGTC	0.423													T	15607507	C	T	15607507	3	4	16	1	0	0	0	0	1	0	0	0	137	768	27	1	1817	1	ACE2	23	15607507	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2667631	15607507	139663053	1579	13901											
CTPS2	56474	broad.mit.edu	37	chrX	16720886	16720886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataaggtgaaaaagtgccaGcatcgatgttaatatagggg	12	5	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:16720886G>A	uc004cxk.2	-	2	884	c.140C>T	c.(139-141)GCT>GTT	p.A47V	CTPS2_uc004cxl.2_Missense_Mutation_p.A47V|CTPS2_uc004cxm.2_Missense_Mutation_p.A47V	NM_001144002	NP_001137474	Q9NRF8	PYRG2_HUMAN	cytidine triphosphate synthase II	47					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			ovary(1)	1	Hepatocellular(33;0.0997)					AAAAGTGCCAGCATCGATGTT	0.418													A	16720886	G	A	16720886	3	1	16	1	0	0	0	0	1	0	0	0	4023	971	34	2	1688	2	CTPS2	23	16720886	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1113379	16720886	138549674	1580	13902											
CDKL5	6792	broad.mit.edu	37	chrX	18622107	18622107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgagtgtaggcctgcccCgggctgacgaaggtctccct	13	14	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:18622107C>T	uc004cym.2	+	12	1316	c.1063C>T	c.(1063-1065)CGG>TGG	p.R355W	CDKL5_uc004cyn.2_Missense_Mutation_p.R355W	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	355					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					AGGCCTGCCCCGGGCTGACGA	0.493													T	18622107	C	T	18622107	3	4	16	1	0	0	0	0	1	0	0	0	3157	643	23	1	1105	1	CDKL5	23	18622107	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1901221	18622107	136648453	1581	13903											
GPR64	10149	broad.mit.edu	37	chrX	19046358	19046359	+	Splice_Site	INS	-	-	A													tctcacctctaaaaaatgctINSaaaaataaattttcaaaaag							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:19046358_19046359insA	uc004cyx.2	-	10	523	c.359_splice	c.e10-1	p.A120_splice	GPR64_uc004cyy.2_Splice_Site_p.A117_splice|GPR64_uc004cyz.2_Splice_Site_p.A106_splice|GPR64_uc004czb.2_Splice_Site_p.A120_splice|GPR64_uc004czc.2_Splice_Site_p.A104_splice|GPR64_uc004czd.2_Splice_Site_p.A96_splice|GPR64_uc004cze.2_Splice_Site_p.A90_splice|GPR64_uc004czf.2_Splice_Site_p.A82_splice|GPR64_uc004cza.2_Splice_Site_p.A98_splice|GPR64_uc004cyw.2_Splice_Site_p.A104_splice|GPR64_uc010nfj.2_Splice_Site_p.A90_splice	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1						neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					TAAAAAATGCTAAAAATAAATT	0.262													A	19046359	-	A	19046358	8	5	16	1	0	1	1	0	0	0	1	0	6705	1536	53	0	2776	0	GPR64	23	19046358	Splice_Site	INS	-	TCGA-BR-4292-01A-01D-1126-08	424251	19046358	136224202	1582	13904	44	2									
GPR64	10149	broad.mit.edu	37	chrX	19046359	19046360	+	Splice_Site	INS	-	-	A													ctcacctctaaaaaatgctaINSaaaataaattttcaaaaaga							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:19046358_19046359T>TA	uc004cyx.3	-	10	601	c.359_splice	c.e10-1	p.A120_splice	GPR64_uc004cze.3_Splice_Site_p.A90_splice|GPR64_uc004cza.3_Splice_Site_p.A98_splice|GPR64_uc004czf.3_Splice_Site_p.A82_splice|GPR64_uc004cyy.3_Splice_Site_p.A117_splice|GPR64_uc004czc.3_Splice_Site_p.A104_splice|GPR64_uc004cyz.3_Splice_Site_p.A106_splice|GPR64_uc004czb.3_Splice_Site_p.A120_splice|GPR64_uc004czd.3_Splice_Site_p.A96_splice|GPR64_uc004cyw.3_Splice_Site_p.A104_splice|GPR64_uc010nfj.3_Splice_Site_p.A90_splice	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	Homo sapiens G protein-coupled receptor 64 (GPR64), transcript variant 1, mRNA.	120					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TAAAAAATGCTAAAAATAAATT	0.262													A	19046360	-	A	19046359	8	5	16	1	0	1	1	0	0	0	1	0	6705	377	13	0		0	GPR64	23	19046359	Splice_Site	INS	-	TCGA-BR-4292-01A-01D-1126-08	1	19046359	136224201	1583	13905	44	2									
KLHL34	257240	broad.mit.edu	37	chrX	21674083	21674083	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctccaggcccagggcaaCgcgcagccgatgtcctccca	11	19	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:21674083C>T	uc004czz.1	-	1	2366	c.1824G>A	c.(1822-1824)GCG>GCA	p.A608A		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	608	Kelch 6.									ovary(1)	1						CCCAGGGCAACGCGCAGCCGA	0.692													T	21674083	C	T	21674083	2	4	16	1	0	0	0	0	0	0	0	1	8387	523	19	1		1	KLHL34	23	21674083	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2627724	21674083	133596477	1584	13906											
YY2	404281	broad.mit.edu	37	chrX	21863335	21863335	+	Frame_Shift_Del	DEL	T	T	-													taattgccatgtttagctcaTtttttctccttggaaaaacg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:21863335delT	uc010nfq.2	+	3	468	c.271delT	c.(271-273)TTTfs	p.F91fs	MBTPS2_uc004dae.2_Frame_Shift_Del_p.F91fs|MBTPS2_uc004dab.2_Frame_Shift_Del_p.F91fs	NM_206923	NP_996806	O15391	TYY2_HUMAN	YY2 transcription factor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2						GTTTAGCTCATTTTTTCTCCT	0.284													-	21863335	T	-	21863335	7	5	16	1	0	1	0	1	0	0	0	0	17506	1493	52	0		0	YY2	23	21863335	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	189252	21863335	133407225	1585	13907											
MAGEB6	158809	broad.mit.edu	37	chrX	26212473	26212473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaatatgatgtggctgcCgagggtgaagatgaggaaag	15	4	1	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:26212473C>T	uc004dbr.2	+	2	659	c.510C>T	c.(508-510)GCC>GCT	p.A170A	MAGEB6_uc010ngc.1_5'UTR	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	170										ovary(3)	3						ATGTGGCTGCCGAGGGTGAAG	0.517													T	26212473	C	T	26212473	2	4	16	1	0	0	0	0	0	0	0	1	9179	639	23	1		1	MAGEB6	23	26212473	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	4349138	26212473	129058087	1586	13908											
FAM47A	158724	broad.mit.edu	37	chrX	34149285	34149285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcgtggagactggacccccGacgagtcttgggaggcgcta	16	12	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:34149285G>A	uc004ddg.2	-	1	1144	c.1111C>T	c.(1111-1113)CGG>TGG	p.R371W		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	371										ovary(4)|central_nervous_system(1)	5						CTGGACCCCCGACGAGTCTTG	0.642													A	34149285	G	A	34149285	3	1	16	1	0	0	0	0	1	0	0	0	5569	1057	37	1	1268	1	FAM47A	23	34149285	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	7936812	34149285	121121275	1587	13909											
FAM47B	170062	broad.mit.edu	37	chrX	34962859	34962859	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttacaagtacaaagaagaCgtcacagatgcatcaaaaga	8	7	2	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:34962859C>T	uc004ddi.1	+	1	1929	c.1911C>T	c.(1909-1911)GAC>GAT	p.D637D		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	637										ovary(3)|breast(1)	4						ACAAAGAAGACGTCACAGATG	0.378													T	34962859	C	T	34962859	2	4	16	1	0	0	0	0	0	0	0	1	5570	535	19	1		1	FAM47B	23	34962859	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	813574	34962859	120307701	1588	13910											
CXorf22	170063	broad.mit.edu	37	chrX	35993957	35993959	+	In_Frame_Del	DEL	TTG	TTG	-													agattgtataatcgtcagaaTtgttgtgctcagtttcaatg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:35993956_35993958ATTG>A	uc004ddj.3	+	14	2705_2707	c.2639_2641ATTG>A	c.(2638-2643)aattgt>aAgt	p.880_881NC>K	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	880										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATCGTCAGAATTGTTGTGCTCA	0.384													-	35993959	TTG	-	35993957	7	5	16	1	0	1	0	1	0	0	0	0	4102	1490	52	0	2698	0	CXorf22	23	35993957	In_Frame_Del	DEL	TTG	TCGA-BR-4292-01A-01D-1126-08	1031098	35993957	119276603	1589	13911											
USP9X	8239	broad.mit.edu	37	chrX	40996215	40996215	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtgaatcagtttcctcAagtgttcagttgcctgaaga	9	9	3	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:40996215A>G	uc004dfb.2	+	6	1227	c.594A>G	c.(592-594)TCA>TCG	p.S198S	USP9X_uc004dfc.2_Silent_p.S198S	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	198					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						CAGTTTCCTCAAGTGTTCAGT	0.378													G	40996215	A	G	40996215	2	3	16	1	0	0	0	0	0	0	0	1	17087	117	5	3		3	USP9X	23	40996215	Silent	SNP	A	TCGA-BR-4292-01A-01D-1126-08	5002258	40996215	114274345	1590	13912											
RGN	9104	broad.mit.edu	37	chrX	46943850	46943850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccgtggctcttcgccagtCgggaggctatgttgccacca	12	14	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:46943850C>T	uc004dgz.1	+	4	1166	c.197C>T	c.(196-198)TCG>TTG	p.S66L	RGN_uc004dha.1_Missense_Mutation_p.S66L|RGN_uc010nho.1_Missense_Mutation_p.S13L|RGN_uc010nhp.1_Missense_Mutation_p.S66L	NM_152869	NP_690608	Q15493	RGN_HUMAN	regucalcin	66					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding				0						CTTCGCCAGTCGGGAGGCTAT	0.483													T	46943850	C	T	46943850	3	4	16	1	0	0	0	0	1	0	0	0	13282	893	31	1	203	1	RGN	23	46943850	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	5947635	46943850	108326710	1591	13913											
SSX5	6758	broad.mit.edu	37	chrX	48053565	48053565	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccccttcccatctactcacCctgattcccacggttagggt	7	17	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:48053565C>A	uc004dja.1	-	4	333	c.280G>T	c.(280-282)GTT>TTT	p.V94F	SSX5_uc004diz.1_Missense_Mutation_p.V135F	NM_175723	NP_783729	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5 isoform b	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding				0						ATCTACTCACCCTGATTCCCA	0.493													A	48053565	C	A	48053565	3	1	16	1	0	0	0	0	1	0	0	0	15207	637	22	5	302	5	SSX5	23	48053565	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1109715	48053565	107216995	1592	13914											
TBC1D25	4943	broad.mit.edu	37	chrX	48399811	48399811	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgcagcacatcctcatcCgagcctttgatttgagtggg	11	10	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:48399811C>T	uc004dka.1	+	2	325	c.214C>T	c.(214-216)CGA>TGA	p.R72*	TBC1D25_uc011mly.1_5'UTR|TBC1D25_uc004dkb.1_5'UTR|TBC1D25_uc011mlz.1_Intron|TBC1D25_uc011mma.1_5'UTR|TBC1D25_uc004dkc.1_5'UTR|TBC1D25_uc011mmb.1_Nonsense_Mutation_p.R76*|TBC1D25_uc011mmc.1_5'UTR|TBC1D25_uc011mmd.1_5'UTR	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	72						intracellular	Rab GTPase activator activity			ovary(1)	1						CATCCTCATCCGAGCCTTTGA	0.552													T	48399811	C	T	48399811	4	4	16	1	0	0	0	0	0	1	0	0	15612	644	23	1	220	1	TBC1D25	23	48399811	Nonsense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	346246	48399811	106870749	1593	13915											
PQBP1	10084	broad.mit.edu	37	chrX	48759706	48759706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaacgggatcgggaccgCgggtatgacaaggcagaccg	18	9	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:48759706C>T	uc004dle.2	+	5	678	c.489C>T	c.(487-489)CGC>CGT	p.R163R	PQBP1_uc004dlf.2_Silent_p.R163R|PQBP1_uc004dlg.2_Silent_p.R163R|PQBP1_uc004dld.2_Intron|PQBP1_uc004dlh.2_Silent_p.R163R|PQBP1_uc004dli.2_Silent_p.R163R|PQBP1_uc004dlj.1_Silent_p.R163R|PQBP1_uc004dln.2_Silent_p.R163R|PQBP1_uc010nih.2_RNA|PQBP1_uc010nii.2_Silent_p.R121R|PQBP1_uc004dlk.2_Intron|PQBP1_uc004dll.2_Intron|PQBP1_uc004dlm.2_Silent_p.R121R|PQBP1_uc010nij.2_Intron	NM_001032382	NP_001027554	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	163	Arg-rich.|3-7.|7 X 2 AA tandem repeats of [DE]-R.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity			large_intestine(1)	1						ATCGGGACCGCGGGTATGACA	0.612													T	48759706	C	T	48759706	2	4	16	1	0	0	0	0	0	0	0	1	12417	755	27	1		1	PQBP1	23	48759706	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	359895	48759706	106510854	1594	13916											
SYP	6855	broad.mit.edu	37	chrX	49049793	49049793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatgtgttccctgtctggCggcagacaggcatctccttg	12	12	2	1	rs150959416		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:49049793C>T	uc004dmz.1	-	5	567	c.551G>A	c.(550-552)CGC>CAC	p.R184H	SYP_uc011mmz.1_Missense_Mutation_p.R66H|SYP_uc004dna.1_Missense_Mutation_p.R178H	NM_003179	NP_003170	P08247	SYPH_HUMAN	synaptophysin	184	Vesicular (Potential).|MARVEL.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(315;0.00016)				CCCTGTCTGGCGGCAGACAGG	0.577													T	49049793	C	T	49049793	3	4	16	1	0	0	0	0	1	0	0	0	15458	768	27	1	398	1	SYP	23	49049793	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	290087	49049793	106220767	1595	13917											
GPR173	54328	broad.mit.edu	37	chrX	53106173	53106173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcgtcacccgctacatgGccatcgcccaccaccgcttc	7	20	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:53106173G>A	uc004dru.2	+	2	628	c.370G>A	c.(370-372)GCC>ACC	p.A124T		NM_018969	NP_061842	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	124	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						CCGCTACATGGCCATCGCCCA	0.592													A	53106173	G	A	53106173	3	1	16	1	0	0	0	0	1	0	0	0	6671	1203	42	2	372	2	GPR173	23	53106173	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	4056380	53106173	102164387	1596	13918											
HUWE1	10075	broad.mit.edu	37	chrX	53587313	53587313	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagtgtcagagaactgtgGtctgcatggcgcaccatcag	12	12	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:53587313G>A	uc004dsp.2	-	56	7974	c.7572C>T	c.(7570-7572)GAC>GAT	p.D2524D	HUWE1_uc004dsn.2_Silent_p.D1348D	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2524					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GAGAACTGTGGTCTGCATGGC	0.552													A	53587313	G	A	53587313	2	1	16	1	0	0	0	0	0	0	0	1	7461	1252	44	4		4	HUWE1	23	53587313	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	481140	53587313	101683247	1597	13919											
HUWE1	10075	broad.mit.edu	37	chrX	53589102	53589102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcatcttcctcctcctcCtcctcttcatcctgactatc	1	20	4	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:53589102C>T	uc004dsp.2	-	54	7710	c.7308G>A	c.(7306-7308)GAG>GAA	p.E2436E	HUWE1_uc004dsn.2_Silent_p.E1260E	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2436	Asp-rich.|Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						cctcctcctcctcctcttcat	0.428													T	53589102	C	T	53589102	2	4	16	1	0	0	0	0	0	0	0	1	7461	680	24	4		4	HUWE1	23	53589102	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1789	53589102	101681458	1598	13920											
MAGED2	10916	broad.mit.edu	37	chrX	54841883	54841883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaccctgggccaaagcccGgatccaggcgggagcagaag	16	13	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:54841883G>A	uc004dtk.1	+	12	1683	c.1589G>A	c.(1588-1590)CGG>CAG	p.R530Q	MAGED2_uc004dtl.1_Missense_Mutation_p.R530Q|MAGED2_uc004dtm.1_Missense_Mutation_p.R445Q|MAGED2_uc010nkc.1_Intron|MAGED2_uc004dtn.1_Missense_Mutation_p.R530Q|MAGED2_uc004dto.1_Missense_Mutation_p.R504Q	NM_177433	NP_803182	Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	530										ovary(2)|breast(1)	3						GCCAAAGCCCGGATCCAGGCG	0.448													A	54841883	G	A	54841883	3	1	16	1	0	0	0	0	1	0	0	0	9184	1116	39	1	1631	1	MAGED2	23	54841883	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1252781	54841883	100428677	1599	13921											
TRO	7216	broad.mit.edu	37	chrX	54957360	54957360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcggcggtggaccaaaCactggtgctggctttggtgg	17	9	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:54957360C>T	uc004dtq.2	+	12	4310	c.4203C>T	c.(4201-4203)AAC>AAT	p.N1401N	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.N932N|TRO_uc004dtw.2_Silent_p.N1004N|TRO_uc004dtx.2_Silent_p.N784N	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	1401	60; approximate.|62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						GTGGACCAAACACTGGTGCTG	0.617													T	54957360	C	T	54957360	2	4	16	1	0	0	0	0	0	0	0	1	16571	477	17	4		4	TRO	23	54957360	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	115477	54957360	100313200	1600	13922											
USP51	158880	broad.mit.edu	37	chrX	55514444	55514444	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgaggtggaagttaataatCtcaaaattttttcttttgtt	7	3	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:55514444C>G	uc004dun.1	-	2	1008	c.929G>C	c.(928-930)AGA>ACA	p.R310T	USP51_uc011moo.1_Intron	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	310					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						AGTTAATAATCTCAAAATTTT	0.358													G	55514444	C	G	55514444	3	3	16	1	0	0	0	0	1	0	0	0	17080	913	32	5	1210	5	USP51	23	55514444	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	557084	55514444	99756116	1601	13923											
OPHN1	4983	broad.mit.edu	37	chrX	67293039	67293039	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagaaaaccgtcctttctcGcagcaagcgctttgaaatcg	8	11	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:67293039G>A	uc004dww.3	-	20	2083	c.1789C>T	c.(1789-1791)CGA>TGA	p.R597*	OPHN1_uc011mpg.1_Nonsense_Mutation_p.R597*	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	597					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2						GTCCTTTCTCGCAGCAAGCGC	0.498													A	67293039	G	A	67293039	4	1	16	1	0	0	0	0	0	1	0	0	10875	1095	38	1	639	1	OPHN1	23	67293039	Nonsense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	11778595	67293039	87977521	1602	13924											
NLGN3	54413	broad.mit.edu	37	chrX	70389754	70389754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccccccatgacacgctgcGcctcactgcattgcccgact	7	20	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:70389754G>A	uc004dzb.2	+	7	2598	c.2294G>A	c.(2293-2295)CGC>CAC	p.R765H	NLGN3_uc004dzc.2_Missense_Mutation_p.R648H|NLGN3_uc011mps.1_Missense_Mutation_p.R745H|NLGN3_uc004dze.2_Missense_Mutation_p.R583H	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	785	Cytoplasmic (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)					GACACGCTGCGCCTCACTGCA	0.647													A	70389754	G	A	70389754	3	1	16	1	0	0	0	0	1	0	0	0	10463	1087	38	1	2380	1	NLGN3	23	70389754	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	3096715	70389754	84880806	1603	13925											
ACRC	93953	broad.mit.edu	37	chrX	70823624	70823624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgacgacaacagtgatgattCggaagctcccgacgacaaca	10	11	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:70823624C>T	uc004eae.2	+	8	998	c.497C>T	c.(496-498)TCG>TTG	p.S166L	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	166	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					AGTGATGATTCGGAAGCTCCC	0.498													T	70823624	C	T	70823624	3	4	16	1	0	0	0	0	1	0	0	0	171	893	31	1	523	1	ACRC	23	70823624	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	433870	70823624	84446936	1604	13926											
HDAC8	55869	broad.mit.edu	37	chrX	71681927	71681927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtatgtccagcatcgagccGtgttggcaaggttatagcct	12	9	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:71681927G>A	uc004eau.2	-	9	974	c.932C>T	c.(931-933)ACG>ATG	p.T311M	HDAC8_uc011mqe.1_Missense_Mutation_p.T168M|HDAC8_uc011mqf.1_Missense_Mutation_p.T116M|HDAC8_uc011mqg.1_Missense_Mutation_p.T220M	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	311	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding				0	Renal(35;0.156)				Vorinostat(DB02546)	GCATCGAGCCGTGTTGGCAAG	0.478													A	71681927	G	A	71681927	3	1	16	1	0	0	0	0	1	0	0	0	7013	1145	40	1	213	1	HDAC8	23	71681927	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	858303	71681927	83588633	1605	13927											
ZCCHC13	389874	broad.mit.edu	37	chrX	73524363	73524363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatcctaaacgagagagaCgccaacactgttatacctgc	9	11	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:73524363C>T	uc004ebs.3	+	1	339	c.262C>T	c.(262-264)CGC>TGC	p.R88C		NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	88							nucleic acid binding|zinc ion binding				0						ACGAGAGAGACGCCAACACTG	0.498													T	73524363	C	T	73524363	3	4	16	1	0	0	0	0	1	0	0	0	17579	536	19	1	264	1	ZCCHC13	23	73524363	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1842436	73524363	81746197	1606	13928											
KIAA2022	340533	broad.mit.edu	37	chrX	73961202	73961202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgaaagggaagagtggcGgaatttgtcaggggtgaagt	17	4	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:73961202G>A	uc004eby.2	-	3	3807	c.3190C>T	c.(3190-3192)CGC>TGC	p.R1064C		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1064					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						GAAGAGTGGCGGAATTTGTCA	0.493													A	73961202	G	A	73961202	3	1	16	1	0	0	0	0	1	0	0	0	8269	1116	39	1	1368	1	KIAA2022	23	73961202	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	436839	73961202	81309358	1607	13929											
MAGEE1	57692	broad.mit.edu	37	chrX	75650737	75650737	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggacagaactagtggtacTtgatcccaggaatcactcct	10	10	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:75650737T>G	uc004ecm.1	+	1	2621	c.2414T>G	c.(2413-2415)CTT>CGT	p.L805R		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	805	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						CTAGTGGTACTTGATCCCAGG	0.502													G	75650737	T	G	75650737	3	3	16	1	0	0	0	0	1	0	0	0	9185	1609	56	5	2416	5	MAGEE1	23	75650737	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	1689535	75650737	79619823	1608	13930											
TBX22	50945	broad.mit.edu	37	chrX	79279656	79279656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgccggtggattccaaaCgctataggtaatgggcccca	13	10	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:79279656C>T	uc010nmg.1	+	4	585	c.451C>T	c.(451-453)CGC>TGC	p.R151C	TBX22_uc004edi.1_Missense_Mutation_p.R31C|TBX22_uc004edj.1_Missense_Mutation_p.R151C	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	151	T-box.				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						GGATTCCAAACGCTATAGGTA	0.527													T	79279656	C	T	79279656	3	4	16	1	0	0	0	0	1	0	0	0	15655	536	19	1	461	1	TBX22	23	79279656	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3628919	79279656	75990904	1609	13931											
BRWD3	254065	broad.mit.edu	37	chrX	79980463	79980463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattccgaattttggtccccCggtcaaggtcccaaataaaa	7	11	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:79980463C>T	uc004edt.2	-	15	1753	c.1490G>A	c.(1489-1491)CGG>CAG	p.R497Q	BRWD3_uc004edo.2_Missense_Mutation_p.R93Q|BRWD3_uc004edp.2_Missense_Mutation_p.R326Q|BRWD3_uc004edq.2_Missense_Mutation_p.R93Q|BRWD3_uc010nmj.1_Missense_Mutation_p.R93Q|BRWD3_uc004edr.2_Missense_Mutation_p.R167Q|BRWD3_uc004eds.2_Missense_Mutation_p.R93Q|BRWD3_uc004edu.2_Missense_Mutation_p.R167Q|BRWD3_uc004edv.2_Missense_Mutation_p.R93Q|BRWD3_uc004edw.2_Missense_Mutation_p.R93Q|BRWD3_uc004edx.2_Missense_Mutation_p.R93Q|BRWD3_uc004edy.2_Missense_Mutation_p.R93Q|BRWD3_uc004edz.2_Missense_Mutation_p.R167Q|BRWD3_uc004eea.2_Missense_Mutation_p.R167Q|BRWD3_uc004eeb.2_Missense_Mutation_p.R93Q	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	497	WD 8.									ovary(4)	4						TTTGGTCCCCCGGTCAAGGTC	0.373													T	79980463	C	T	79980463	3	4	16	1	0	0	0	0	1	0	0	0	1526	652	23	1	4026	1	BRWD3	23	79980463	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	700807	79980463	75290097	1610	13932											
POU3F4	5456	broad.mit.edu	37	chrX	82764299	82764299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttggagaaggaagtggtgCgtgtctggttctgtaatcga	16	4	2	1	rs104894924		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:82764299C>T	uc004eeg.2	+	1	1031	c.967C>T	c.(967-969)CGT>TGT	p.R323C		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	323	Homeobox.		R -> G (in DFNX2; somatic mosaicism in 50% of the peripheral blood lymphocytes).		sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGAAGTGGTGCGTGTCTGGTT	0.542													T	82764299	C	T	82764299	3	4	16	1	0	0	0	0	1	0	0	0	12277	768	27	1	969	1	POU3F4	23	82764299	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	2783836	82764299	72506261	1611	13933											
NAP1L3	4675	broad.mit.edu	37	chrX	92927271	92927271	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaggttttgagaacttcaGgctaacatccgacaagaact	9	10	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:92927271G>T	uc004efq.2	-	1	1338	c.1033C>A	c.(1033-1035)CTG>ATG	p.L345M	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	345					nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2						GAGAACTTCAGGCTAACATCC	0.413													T	92927271	G	T	92927271	3	4	16	1	0	0	0	0	1	0	0	0	10158	991	35	5	491	5	NAP1L3	23	92927271	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	10162972	92927271	62343289	1612	13934											
PCDH19	57526	broad.mit.edu	37	chrX	99551449	99551449	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatactgctccagatcacgGgctgggggagccagggcaat	14	11	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:99551449G>T	uc010nmz.2	-	6	4949	c.3273C>A	c.(3271-3273)GCC>GCA	p.A1091A	PCDH19_uc004efw.3_Silent_p.A1043A|PCDH19_uc004efx.3_Silent_p.A1044A	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	1091	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						CCAGATCACGGGCTGGGGGAG	0.582													T	99551449	G	T	99551449	2	4	16	1	0	0	0	0	0	0	0	1	11514	1219	43	5		5	PCDH19	23	99551449	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	6624178	99551449	55719111	1613	13935											
XKRX	402415	broad.mit.edu	37	chrX	100169452	100169452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attatgggtgaagagtgagcGcaatggatgcaagtactgga	15	4	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:100169452G>A	uc004egn.2	-	3	1830	c.1225C>T	c.(1225-1227)CGC>TGC	p.R409C	XKRX_uc011mre.1_Missense_Mutation_p.R205C	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	409						integral to membrane|plasma membrane				breast(1)	1						AAGAGTGAGCGCAATGGATGC	0.468													A	100169452	G	A	100169452	3	1	16	1	0	0	0	0	1	0	0	0	17436	1087	38	1	128	1	XKRX	23	100169452	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	618003	100169452	55101108	1614	13936											
CENPI	2491	broad.mit.edu	37	chrX	100387216	100387216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcattcctgtataagaGccttcctctctgggatggcc	10	11	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:100387216G>A	uc004egx.2	+	13	1595	c.1325G>A	c.(1324-1326)AGC>AAC	p.S442N	CENPI_uc011mrg.1_Missense_Mutation_p.S442N|CENPI_uc004egy.2_Missense_Mutation_p.S442N	NM_006733	NP_006724	Q92674	CENPI_HUMAN	centromere protein I	442					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			skin(1)	1						CTGTATAAGAGCCTTCCTCTC	0.398													A	100387216	G	A	100387216	3	1	16	1	0	0	0	0	1	0	0	0	3233	971	34	2	1371	2	CENPI	23	100387216	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	217764	100387216	54883344	1615	13937											
HNRNPH2	3188	broad.mit.edu	37	chrX	100667790	100667790	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attactgtttttcaggaatgTctgatcatagatacggagat	9	5	3	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:100667790T>G	uc004ehm.2	+	2	984	c.814T>G	c.(814-816)TCT>GCT	p.S272A	HNRNPH2_uc004ehn.2_Missense_Mutation_p.S272A	NM_019597	NP_062543	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2	272	2 X 16 AA Gly-rich approximate repeats.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						TTCAGGAATGTCTGATCATAG	0.453													G	100667790	T	G	100667790	3	3	16	1	0	0	0	0	1	0	0	0	7267	1667	58	5	816	5	HNRNPH2	23	100667790	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	280574	100667790	54602770	1616	13938											
NXF5	55998	broad.mit.edu	37	chrX	101095488	101095488	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccttacataggcagactgGtccgagaaggtgctgcacaa	12	10	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:101095488G>A	uc011mrk.1	-	10	1041	c.681C>T	c.(679-681)GAC>GAT	p.D227D	NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	227	LRR 3.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			central_nervous_system(1)	1						AGGCAGACTGGTCCGAGAAGG	0.577													A	101095488	G	A	101095488	2	1	16	1	0	0	0	0	0	0	0	1	10786	1252	44	4		4	NXF5	23	101095488	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	427698	101095488	54175072	1617	13939											
ZMAT1	84460	broad.mit.edu	37	chrX	101138866	101138866	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaacttcagattctacactGtatgagccagagttattttc	6	8	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:101138866G>A	uc004eim.2	-	2	4518	c.1020C>T	c.(1018-1020)TAC>TAT	p.Y340Y	ZMAT1_uc011mrl.1_Silent_p.Y511Y|ZMAT1_uc004ein.2_Silent_p.Y340Y|ZMAT1_uc011mrm.1_Silent_p.Y340Y	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 3	340						nucleus	zinc ion binding			ovary(1)	1						ATTCTACACTGTATGAGCCAG	0.408													A	101138866	G	A	101138866	2	1	16	1	0	0	0	0	0	0	0	1	17688	1372	48	4		4	ZMAT1	23	101138866	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	43378	101138866	54131694	1618	13940											
FAM199X	139231	broad.mit.edu	37	chrX	103434329	103434329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttacagcagaaggccttccGcaagaggcagctgaaggagc	14	10	0	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:103434329G>A	uc004elw.2	+	6	1203	c.1037G>A	c.(1036-1038)CGC>CAC	p.R346H	FAM199X_uc004elx.2_Missense_Mutation_p.R120H	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	hypothetical protein LOC139231	346										ovary(1)	1						AAGGCCTTCCGCAAGAGGCAG	0.488													A	103434329	G	A	103434329	3	1	16	1	0	0	0	0	1	0	0	0	5530	1087	38	1	1059	1	FAM199X	23	103434329	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2295463	103434329	51836231	1619	13941											
NRK	203447	broad.mit.edu	37	chrX	105153047	105153047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaggcacctccacgactaCggagggcagccagggtgctc	13	13	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:105153047C>T	uc004emd.2	+	13	1717	c.1414C>T	c.(1414-1416)CGG>TGG	p.R472W	NRK_uc010npc.1_Missense_Mutation_p.R140W	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	472	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						TCCACGACTACGGAGGGCAGC	0.557										HNSCC(51;0.14)			T	105153047	C	T	105153047	3	4	16	1	0	0	0	0	1	0	0	0	10655	527	19	1	1464	1	NRK	23	105153047	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1718718	105153047	50117513	1620	13942											
CXorf57	55086	broad.mit.edu	37	chrX	105865880	105865880	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcctcttttttatattctaGataccaaaataatttccctt	1	9	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:105865880G>C	uc004emi.3	+	2	795	c.644_splice	c.e2-1	p.D215_splice	CXorf57_uc004emj.3_Splice_Site_p.D215_splice|CXorf57_uc004emh.2_Splice_Site_p.D215_splice	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	hypothetical protein LOC55086											ovary(1)|lung(1)|breast(1)	3						TTATATTCTAGATACCAAAAT	0.308													C	105865880	G	C	105865880	5	2	16	1	0	0	0	0	0	0	1	0	4113	956	33	5	649	5	CXorf57	23	105865880	Splice_Site	SNP	G	TCGA-BR-4292-01A-01D-1126-08	712833	105865880	49404680	1621	13943											
TEX13B	56156	broad.mit.edu	37	chrX	107224932	107224933	+	Frame_Shift_Del	DEL	CT	CT	-													ttccatctcagcatgtcccgCtctctctgcacctccgcaag							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:107224932_107224933delCT	uc004enn.1	-	2	518_519	c.425_426delAG	c.(424-426)GAGfs	p.E142fs		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	testis expressed 13B	142										ovary(1)	1						GCATGTCCCGCTCTCTCTGCAC	0.589													-	107224933	CT	-	107224932	7	5	16	1	0	1	0	1	0	0	0	0	15774	796	28	0	520	0	TEX13B	23	107224932	Frame_Shift_Del	DEL	CT	TCGA-BR-4292-01A-01D-1126-08	1359052	107224932	48045628	1622	13944											
IRS4	8471	broad.mit.edu	37	chrX	107978724	107978724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgctccgagtgtccacagCgacggatgctcaggagctgg	14	12	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:107978724C>T	uc004eoc.2	-	1	884	c.851G>A	c.(850-852)CGC>CAC	p.R284H		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	284	IRS-type PTB.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						GTGTCCACAGCGACGGATGCT	0.592													T	107978724	C	T	107978724	3	4	16	1	0	0	0	0	1	0	0	0	7842	768	27	1	2926	1	IRS4	23	107978724	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	753792	107978724	47291836	1623	13945											
CHRDL1	91851	broad.mit.edu	37	chrX	109964646	109964646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgcattgattgggttgCcgattctgaaagagcccttc	13	8	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:109964646C>T	uc004eou.3	-	5	763	c.414G>A	c.(412-414)CGG>CGA	p.R138R	CHRDL1_uc004eov.2_Silent_p.R132R|CHRDL1_uc004eow.2_Silent_p.R137R|CHRDL1_uc010nps.2_Silent_p.R137R|CHRDL1_uc004eot.2_Intron|CHRDL1_uc011mss.1_Intron|CHRDL1_uc004eox.3_Silent_p.R131R	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	131	VWFC 2.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0						GATTGGGTTGCCGATTCTGAA	0.483													T	109964646	C	T	109964646	2	4	16	1	0	0	0	0	0	0	0	1	3373	726	26	2		2	CHRDL1	23	109964646	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1985922	109964646	45305914	1624	13946											
ALG13	79868	broad.mit.edu	37	chrX	110954936	110954936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttgagaaatacctggaaCggttgggagatcccaaggta	12	7	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:110954936C>T	uc011msy.1	+	6	902	c.868C>T	c.(868-870)CGG>TGG	p.R290W	ALG13_uc011msw.1_Missense_Mutation_p.R212W|ALG13_uc011msx.1_Missense_Mutation_p.R186W|ALG13_uc011msz.1_Missense_Mutation_p.R212W|ALG13_uc011mta.1_Missense_Mutation_p.R186W|ALG13_uc011mtb.1_Missense_Mutation_p.R186W			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	290	OTU.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1						ATACCTGGAACGGTTGGGAGA	0.308													T	110954936	C	T	110954936	3	4	16	1	0	0	0	0	1	0	0	0	515	527	19	1	1032	1	ALG13	23	110954936	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	990290	110954936	44315624	1625	13947											
TRPC5	7224	broad.mit.edu	37	chrX	111090440	111090440	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagaagtaaagctggttcagTccattggcaaaagctagtag	11	6	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:111090440T>C	uc004epl.1	-	6	2521	c.1602A>G	c.(1600-1602)GGA>GGG	p.G534G	TRPC5_uc004epm.1_Silent_p.G534G	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	534	Extracellular (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						GCTGGTTCAGTCCATTGGCAA	0.458													C	111090440	T	C	111090440	2	2	16	1	0	0	0	0	0	0	0	1	16579	1654	58	3		3	TRPC5	23	111090440	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	135504	111090440	44180120	1626	13948											
HTR2C	3358	broad.mit.edu	37	chrX	113965896	113965896	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaacatccttgtgatcatgGcagtaagcatggaaaagaaa	10	7	1	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:113965896G>T	uc004epu.1	+	4	957	c.229G>T	c.(229-231)GCA>TCA	p.A77S	HTR2C_uc010nqc.1_Missense_Mutation_p.A77S|HTR2C_uc004epv.1_Missense_Mutation_p.A77S	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	77	Helical; Name=1; (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TGTGATCATGGCAGTAAGCAT	0.448													T	113965896	G	T	113965896	3	4	16	1	0	0	0	0	1	0	0	0	7443	1203	42	5	235	5	HTR2C	23	113965896	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2875456	113965896	41304664	1627	13949											
LRCH2	57631	broad.mit.edu	37	chrX	114419019	114419019	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaatttcttctggaatggaTaccagtttattattactgac	6	8	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:114419019T>A	uc010nqe.2	-	3	607	c.576A>T	c.(574-576)GTA>GTT	p.V192V	LRCH2_uc004epz.2_Silent_p.V192V	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH)	192	LRR 5.									ovary(1)	1						CTGGAATGGATACCAGTTTAT	0.303													A	114419019	T	A	114419019	2	1	16	1	0	0	0	0	0	0	0	1	8933	1393	49	5		5	LRCH2	23	114419019	Silent	SNP	T	TCGA-BR-4292-01A-01D-1126-08	453123	114419019	40851541	1628	13950											
LRCH2	57631	broad.mit.edu	37	chrX	114422934	114422934	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaacgatttctggaaagatCtgaaaagaaaatagtgagta	9	3	2	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:114422934C>T	uc010nqe.2	-	2	381	c.350_splice	c.e2-1	p.D117_splice	LRCH2_uc004epz.2_Splice_Site_p.D117_splice|RBMXL3_uc011mte.1_5'Flank	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH)											ovary(1)	1						CTGGAAAGATCTGAAAAGAAA	0.299													T	114422934	C	T	114422934	5	4	16	1	0	0	0	0	0	0	1	0	8933	927	32	4	2028	4	LRCH2	23	114422934	Splice_Site	SNP	C	TCGA-BR-4292-01A-01D-1126-08	3915	114422934	40847626	1629	13951											
FAM70A	55026	broad.mit.edu	37	chrX	119419025	119419025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaagcaggtgttgccccGgatgcgaggtgtgcagaatt	16	8	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:119419025G>A	uc004eso.3	-	7	768	c.541C>T	c.(541-543)CGG>TGG	p.R181W	FAM70A_uc004esp.3_Missense_Mutation_p.R157W|FAM70A_uc010nqo.2_Intron	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	hypothetical protein LOC55026 isoform 1	181						integral to membrane				lung(1)|breast(1)	2						GTGTTGCCCCGGATGCGAGGT	0.527													A	119419025	G	A	119419025	3	1	16	1	0	0	0	0	1	0	0	0	5605	1115	39	1	524	1	FAM70A	23	119419025	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	4996091	119419025	35851535	1630	13952											
SASH3	54440	broad.mit.edu	37	chrX	128924995	128924995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggccctgagaagatggCgctggccttttctgagcaag	13	12	1	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:128924995C>T	uc011mun.1	+	4	562	c.380C>T	c.(379-381)GCG>GTG	p.A127V	SASH3_uc004euu.2_Missense_Mutation_p.A127V|SASH3_uc011muo.1_Missense_Mutation_p.A44V	NM_018990	NP_061863	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	127										ovary(2)|pancreas(1)	3						GAGAAGATGGCGCTGGCCTTT	0.627													T	128924995	C	T	128924995	3	4	16	1	0	0	0	0	1	0	0	0	13849	768	27	1	394	1	SASH3	23	128924995	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	9505970	128924995	26345565	1631	13953											
ARHGAP36	158763	broad.mit.edu	37	chrX	130222706	130222706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaagaccgcccattgctcCgtgtgccccgggagaaggag	14	13	0	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:130222706C>T	uc004evz.2	+	12	1936	c.1591C>T	c.(1591-1593)CGT>TGT	p.R531C	ARHGAP36_uc004ewa.2_Missense_Mutation_p.R519C|ARHGAP36_uc004ewb.2_Missense_Mutation_p.R500C|ARHGAP36_uc004ewc.2_Missense_Mutation_p.R395C	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	531					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3						CCCATTGCTCCGTGTGCCCCG	0.582													T	130222706	C	T	130222706	3	4	16	1	0	0	0	0	1	0	0	0	883	652	23	1	1633	1	ARHGAP36	23	130222706	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	1297711	130222706	25047854	1632	13954											
HS6ST2	90161	broad.mit.edu	37	chrX	131762582	131762583	+	Frame_Shift_Ins	INS	-	-	A													cataaactgatacctctgcaINSaaaaaaggtctttggcatag							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:131762581_131762582C>CA	uc011mvd.1	-	5	2023_2024	c.1607_1608G>TG	c.(1606-1608)ttgfs	p.L536fs	HS6ST2_uc011mvb.1_Frame_Shift_Ins_p.L390fs|HS6ST2_uc011mvc.1_Frame_Shift_Ins_p.L350fs|HS6ST2_uc011mve.1_Frame_Shift_Ins_p.L496fs|HS6ST2_uc011mva.1_Frame_Shift_Ins_p.L222fs	NM_001077188	NP_001070656	Q96MM7	H6ST2_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 2 (HS6ST2), transcript variant L, mRNA.	496						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GATACCTCTGCAAAAAAAGGTC	0.45													A	131762583	-	A	131762582	7	5	16	1	0	1	1	0	0	0	0	0	7371	131	5	0	334	0	HS6ST2	23	131762582	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1539876	131762582	23507978	1633	13955											
GPC4	2239	broad.mit.edu	37	chrX	132445391	132445391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcacagtcacgagaccccGgcagtgggagcagtagatca	12	12	3	2			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:132445391G>A	uc004exc.1	-	4	984	c.772C>T	c.(772-774)CGG>TGG	p.R258W	GPC4_uc011mvg.1_Missense_Mutation_p.R188W	NM_001448	NP_001439	O75487	GPC4_HUMAN	glypican 4 precursor	258					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	Acute lymphoblastic leukemia(192;0.000127)					ACGAGACCCCGGCAGTGGGAG	0.483													A	132445391	G	A	132445391	3	1	16	1	0	0	0	0	1	0	0	0	6600	1115	39	1	922	1	GPC4	23	132445391	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	682809	132445391	22825169	1634	13956											
FAM127A	8933	broad.mit.edu	37	chrX	134166473	134166473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccgatccggcctgcgacGcgtcgctggaggaacccgat	14	14	0	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:134166473G>A	uc004eyd.2	+	1	141	c.60G>A	c.(58-60)ACG>ACA	p.T20T	uc004eye.1_RNA	NM_001078171	NP_001071639	A6ZKI3	F127A_HUMAN	family with sequence similarity 127, member A	20											0	Acute lymphoblastic leukemia(192;0.000127)					GGCCTGCGACGCGTCGCTGGA	0.642													A	134166473	G	A	134166473	2	1	16	1	0	0	0	0	0	0	0	1	5431	1074	38	1		1	FAM127A	23	134166473	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	1721082	134166473	21104087	1635	13957											
SAGE1	55511	broad.mit.edu	37	chrX	134989148	134989148	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggccaaccccaacctgataAcatcttgtcaactgcttcaa	6	14	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:134989148A>C	uc004ezh.2	+	8	967	c.800A>C	c.(799-801)AAC>ACC	p.N267T	SAGE1_uc010nry.1_Missense_Mutation_p.N236T|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	267										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					CAACCTGATAACATCTTGTCA	0.463													C	134989148	A	C	134989148	3	2	16	1	0	0	0	0	1	0	0	0	13809	43	2	5	826	5	SAGE1	23	134989148	Missense_Mutation	SNP	A	TCGA-BR-4292-01A-01D-1126-08	822675	134989148	20281412	1636	13958											
MMGT1	93380	broad.mit.edu	37	chrX	135047268	135047268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaagaatttgctgtatccGaaggccggaaaagtactcga	11	7	0	2	rs150859420		TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:135047268G>A	uc004ezi.1	-	4	611	c.311C>T	c.(310-312)TCG>TTG	p.S104L	MMGT1_uc011mvw.1_Missense_Mutation_p.S169L	NM_173470	NP_775741	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1 precursor	104	Cytoplasmic (Potential).					early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity				0						TGCTGTATCCGAAGGCCGGAA	0.358													A	135047268	G	A	135047268	3	1	16	1	0	0	0	0	1	0	0	0	9647	1059	37	1	88	1	MMGT1	23	135047268	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	58120	135047268	20223292	1637	13959											
ARHGEF6	9459	broad.mit.edu	37	chrX	135751673	135751673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgacctcgtccttcaaggCgtaaacagtatcaacaaggc	8	12	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:135751673C>T	uc004fab.2	-	21	2620	c.2158G>A	c.(2158-2160)GCC>ACC	p.A720T	ARHGEF6_uc011mwd.1_Missense_Mutation_p.A593T|ARHGEF6_uc011mwe.1_Missense_Mutation_p.A566T	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	720					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					TCCTTCAAGGCGTAAACAGTA	0.368													T	135751673	C	T	135751673	3	4	16	1	0	0	0	0	1	0	0	0	910	768	27	1	180	1	ARHGEF6	23	135751673	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	704405	135751673	19518887	1638	13960											
FGF13	2258	broad.mit.edu	37	chrX	137793063	137793063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttttgtcgcagctggtctTgcctttgctggggctgctga	14	9	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:137793063T>C	uc004fam.2	-	1	765	c.103A>G	c.(103-105)AAG>GAG	p.K35E	FGF13_uc004fan.2_Intron|FGF13_uc011mwi.1_Intron|FGF13_uc004faq.2_Intron|FGF13_uc004far.2_Intron|FGF13_uc011mwj.1_Intron|FGF13_uc011mwk.1_Intron|uc004fao.2_5'Flank	NM_004114	NP_004105	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 1	35					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					CAGCTGGTCTTGCCTTTGCTG	0.567													C	137793063	T	C	137793063	3	2	16	1	0	0	0	0	1	0	0	0	5842	1821	63	3	654	3	FGF13	23	137793063	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	2041390	137793063	17477497	1639	13961											
SPANXC	64663	broad.mit.edu	37	chrX	140335784	140335784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcacgttcctcctgtagcGaaccactagtatggtcgagg	10	11	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:140335784G>A	uc004fbk.2	-	2	216	c.160C>T	c.(160-162)CGC>TGC	p.R54C	SPANXC_uc004fbl.2_RNA	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	sperm protein associated with the nucleus, X	54						cytoplasm|nucleus					0	Acute lymphoblastic leukemia(192;7.65e-05)					CTCCTGTAGCGAACCACTAGT	0.498													A	140335784	G	A	140335784	3	1	16	1	0	0	0	0	1	0	0	0	14987	1058	37	1	137	1	SPANXC	23	140335784	Missense_Mutation	SNP	G	TCGA-BR-4292-01A-01D-1126-08	2542721	140335784	14934776	1640	13962											
SPANXN3	139067	broad.mit.edu	37	chrX	142605183	142605183	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggattcacaggggctcttcgTcttctccccattggtgctgg	12	12	4	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:142605183T>A	uc004fbw.2	-	1	125	c.37A>T	c.(37-39)ACG>TCG	p.T13S		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	SPANX-N3 protein	13										ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTCTTCGTCTTCTCCCCA	0.328													A	142605183	T	A	142605183	3	1	16	1	0	0	0	0	1	0	0	0	14992	1667	58	5	396	5	SPANXN3	23	142605183	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	2269399	142605183	12665377	1641	13963											
CXorf1	9142	broad.mit.edu	37	chrX	144909328	144909328	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactatattctgttttgctTtatctgctcaagcactttcg	6	9	3	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:144909328T>G	uc004fch.2	+	1	401	c.133T>G	c.(133-135)TTA>GTA	p.L45V		NM_004709	NP_004700	O96002	CX001_HUMAN	hypothetical protein LOC9142	45											0	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTTTTGCTTTATCTGCTCA	0.294													G	144909328	T	G	144909328	3	3	16	1	0	0	0	0	1	0	0	0	4100	1838	64	5	135	5	CXorf1	23	144909328	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	2304145	144909328	10361232	1642	13964											
AFF2	2334	broad.mit.edu	37	chrX	148039963	148039963	+	Frame_Shift_Del	DEL	C	C	-													cttgcatctcaccagccccaCcccacaagcctcccaacact							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:148039962_148039962AC>A	uc004fcp.3	+	11	3143	c.2664_2664AC>A	c.(2662-2664)ccafs	p.P888fs	AFF2_uc004fcq.3_Frame_Shift_Del_p.P878fs|AFF2_uc004fcr.3_Frame_Shift_Del_p.P849fs|AFF2_uc011mxb.2_Frame_Shift_Del_p.P853fs|AFF2_uc004fcs.3_Frame_Shift_Del_p.P855fs|AFF2_uc011mxc.2_Frame_Shift_Del_p.P529fs	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	888					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CACCAGCCCCACCCCACAAGC	0.512													-	148039963	C	-	148039963	7	5	16	1	0	1	0	1	0	0	0	0	357	507	18	0	2766	0	AFF2	23	148039963	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	3130635	148039963	7230597	1643	13965											
MAGEA8	4107	broad.mit.edu	37	chrX	149013702	149013702	+	Frame_Shift_Del	DEL	C	C	-													cttaatggagggcagccgcgCcccggaggaggcaatctggg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:149013701_149013701GC>G	uc022cgq.1	+	0	655	c.655_655GC>G	c.(655-657)gccfs	p.A219fs	MAGEA8_uc022cgo.1_Frame_Shift_Del_p.A219fs|MAGEA8_uc004fdw.2_Frame_Shift_Del_p.A219fs|MAGEA8_uc022cgp.1_Frame_Shift_Del_p.A219fs	NM_005364	NP_005355	P43361	MAGA8_HUMAN	Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA.	219	MAGE.							p.R218H(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCAGCCGCGCCCCGGAGGA	0.577													-	149013702	C	-	149013702	7	5	16	1	0	1	0	1	0	0	0	0	9171	739	26	0	658	0	MAGEA8	23	149013702	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	973739	149013702	6256858	1644	13966											
MAGEA8	4107	broad.mit.edu	37	chrX	149013887	149013888	+	Frame_Shift_Ins	INS	-	-	T													cctgtggggtccaagggcccINSttgctgaaaccagctatgtg							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:149013887_149013888insT	uc004fdw.1	+	3	1056_1057	c.841_842insT	c.(841-843)CTTfs	p.L281fs		NM_005364	NP_005355	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	281	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAAGGGCCCTTGCTGAAACC	0.579													T	149013888	-	T	149013887	7	5	16	1	0	1	1	0	0	0	0	0	9171	681	24	0	843	0	MAGEA8	23	149013887	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	185	149013887	6256673	1645	13967	45	2									
MAGEA8	4107	broad.mit.edu	37	chrX	149013888	149013889	+	Frame_Shift_Ins	INS	-	-	T													ctgtggggtccaagggccctINStgctgaaaccagctatgtga							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:149013887_149013888C>CT	uc022cgq.1	+	0	841_842	c.841_842C>CT	c.(841-843)cttfs	p.L281fs	MAGEA8_uc022cgo.1_Frame_Shift_Ins_p.L281fs|MAGEA8_uc004fdw.2_Frame_Shift_Ins_p.L281fs|MAGEA8_uc022cgp.1_Frame_Shift_Ins_p.L281fs	NM_005364	NP_005355	P43361	MAGA8_HUMAN	Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA.	281	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAAGGGCCCTTGCTGAAACC	0.579													T	149013889	-	T	149013888	7	5	16	1	0	1	1	0	0	0	0	0	9171	1609	56	0	844	0	MAGEA8	23	149013888	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1	149013888	6256672	1646	13968	45	2									
PRRG3	79057	broad.mit.edu	37	chrX	150869297	150869298	+	Frame_Shift_Ins	INS	-	-	G													gtggtgctggggcccagtcgINSggggggcaggaccacagtcc					rs139807152	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:150869296_150869297C>CG	uc022cgt.1	+	3	536_537	c.487_488C>CG	c.(487-489)cggfs	p.R163fs	PRRG3_uc004few.2_Frame_Shift_Ins_p.R163fs	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	163						extracellular region|integral to membrane	calcium ion binding	p.R163P(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGCCCAGTCGGGGGGGCAGG	0.673													G	150869298	-	G	150869297	7	5	16	1	0	1	1	0	0	0	0	0	12607	1116	39	0	498	0	PRRG3	23	150869297	Frame_Shift_Ins	INS	-	TCGA-BR-4292-01A-01D-1126-08	1855409	150869297	4401263	1647	13969											
CNGA2	1260	broad.mit.edu	37	chrX	150912002	150912002	+	Frame_Shift_Del	DEL	C	C	-													ctaccattggggagacaccaCcccctgtaaaggatgaggag							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:150912001_150912001AC>A	uc004fey.1	+	6	1250	c.1026_1026AC>A	c.(1024-1026)ccafs	p.P342fs		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	342					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGACACCACCCCCTGTAA	0.493													-	150912002	C	-	150912002	7	5	16	1	0	1	0	1	0	0	0	0	3597	507	18	0	1049	0	CNGA2	23	150912002	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	42705	150912002	4358558	1648	13970											
GABRQ	55879	broad.mit.edu	37	chrX	151821591	151821591	+	Frame_Shift_Del	DEL	C	C	-													tcagagtctgaggatagttgCcccccaagccctgggtgctc							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:151821590_151821590GC>G	uc004ffp.1	+	8	1765	c.1745_1745GC>G	c.(1744-1746)tgcfs	p.C582fs		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	582						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGATAGTTGCCCCCCAAGC	0.517													-	151821591	C	-	151821591	7	5	16	1	0	1	0	1	0	0	0	0	6175	747	26	0	1780	0	GABRQ	23	151821591	Frame_Shift_Del	DEL	C	TCGA-BR-4292-01A-01D-1126-08	909589	151821591	3448969	1649	13971											
ATP2B3	492	broad.mit.edu	37	chrX	152813442	152813442	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcacaaagctagccgtgCagatcgggaaagcaggtagg	14	9	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:152813442C>T	uc004fht.1	+	7	1234	c.1108C>T	c.(1108-1110)CAG>TAG	p.Q370*	ATP2B3_uc004fhs.1_Nonsense_Mutation_p.Q370*	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	370	Helical; (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTAGCCGTGCAGATCGGGAA	0.607													T	152813442	C	T	152813442	4	4	16	1	0	0	0	0	0	1	0	0	1141	711	25	2	1134	2	ATP2B3	23	152813442	Nonsense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	991851	152813442	2457118	1650	13972											
SRPK3	26576	broad.mit.edu	37	chrX	153047269	153047269	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggagacagctgtggatgagaTcaagctcctgaaatgtgtga	14	6	1	4			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:153047269T>A	uc004fil.2	+	4	403	c.371T>A	c.(370-372)ATC>AAC	p.I124N	SRPK3_uc004fik.2_Missense_Mutation_p.I190N|SRPK3_uc010nul.2_Missense_Mutation_p.I82N|SRPK3_uc004fin.2_Missense_Mutation_p.I124N|SRPK3_uc004fim.2_Missense_Mutation_p.I124N	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	serine arginine rich protein-specific kinase 3	124	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			pancreas(2)|lung(1)	3	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGATGAGATCAAGCTCCTG	0.617													A	153047269	T	A	153047269	3	1	16	1	0	0	0	0	1	0	0	0	15160	1435	50	5	385	5	SRPK3	23	153047269	Missense_Mutation	SNP	T	TCGA-BR-4292-01A-01D-1126-08	233827	153047269	2223291	1651	13973											
L1CAM	3897	broad.mit.edu	37	chrX	153128277	153128277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccataatcggccaggctgtcGtcactgcccaggggcttgat	12	13	1	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:153128277G>A	uc004fjb.2	-	28	3723	c.3615C>T	c.(3613-3615)GAC>GAT	p.D1205D	L1CAM_uc004fjc.2_Silent_p.D1201D|L1CAM_uc010nuo.2_Silent_p.D1196D	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	1205	Cytoplasmic (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGCTGTCGTCACTGCCCA	0.602													A	153128277	G	A	153128277	2	1	16	1	0	0	0	0	0	0	0	1	8588	1136	40	1		1	L1CAM	23	153128277	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	81008	153128277	2142283	1652	13974											
RENBP	5973	broad.mit.edu	37	chrX	153207102	153207102	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccagccggcttccagcgtGtggcctggtgaggggtggag	18	10	0	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:153207102G>A	uc004fjo.1	-	8	944	c.774C>T	c.(772-774)CAC>CAT	p.H258H	RENBP_uc011mzh.1_Missense_Mutation_p.T231I	NM_002910	NP_002901	P51606	RENBP_HUMAN	renin binding protein	258					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			ovary(1)|pancreas(1)	2	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	CTTCCAGCGTGTGGCCTGGTG	0.627													A	153207102	G	A	153207102	2	1	16	1	0	0	0	0	0	0	0	1	13225	1368	48	4		4	RENBP	23	153207102	Silent	SNP	G	TCGA-BR-4292-01A-01D-1126-08	78825	153207102	2063458	1653	13975											
FLNA	2316	broad.mit.edu	37	chrX	153581719	153581719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcctcccggcccgagggCgggaccacagtggccgtcag	16	16	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:153581719C>T	uc004fkk.2	-	37	6216	c.5967G>A	c.(5965-5967)CCG>CCA	p.P1989P	FLNA_uc004fki.2_Silent_p.P32P|FLNA_uc011mzn.1_Silent_p.P122P|FLNA_uc010nuu.1_Silent_p.P1981P	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1989	Filamin 18.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCCGAGGGCGGGACCACAG	0.627													T	153581719	C	T	153581719	2	4	16	1	0	0	0	0	0	0	0	1	5933	755	27	1		1	FLNA	23	153581719	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	374617	153581719	1688841	1654	13976											
GDI1	2664	broad.mit.edu	37	chrX	153669509	153669509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgacatcatcatggagaaCggcaaggtggtgggcgtgaa	16	6	2	3			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:153669509C>T	uc004fli.3	+	7	1128	c.786C>T	c.(784-786)AAC>AAT	p.N262N	GDI1_uc011mzo.1_3'UTR|GDI1_uc004flj.2_5'Flank|FAM50A_uc004fll.3_5'Flank	NM_001493	NP_001484	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	262					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding				0	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCATGGAGAACGGCAAGGTGG	0.572													T	153669509	C	T	153669509	2	4	16	1	0	0	0	0	0	0	0	1	6320	535	19	1		1	GDI1	23	153669509	Silent	SNP	C	TCGA-BR-4292-01A-01D-1126-08	87790	153669509	1601051	1655	13977											
FAM50A	9130	broad.mit.edu	37	chrX	153678623	153678623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacatctttcccgccagcCgctgggaaccctacgaccct	8	18	1	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:153678623C>T	uc004fll.3	+	12	1065	c.967C>T	c.(967-969)CGC>TGC	p.R323C		NM_004699	NP_004690	Q14320	FA50A_HUMAN	XAP-5 protein	323					spermatogenesis	nucleus				ovary(1)	1	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCCGCCAGCCGCTGGGAACC	0.627													T	153678623	C	T	153678623	3	4	16	1	0	0	0	0	1	0	0	0	5577	652	23	1	1013	1	FAM50A	23	153678623	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	9114	153678623	1591937	1656	13978											
PLXNA3	55558	broad.mit.edu	37	chrX	153689602	153689602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagacgctgttggacacagCgggcgagaaatttttcacgt	13	9	1	2	rs147390702	byFrequency	TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:153689602C>T	uc004flm.2	+	3	931	c.758C>T	c.(757-759)GCG>GTG	p.A253V		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	253	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTGGACACAGCGGGCGAGAAA	0.577													T	153689602	C	T	153689602	3	4	16	1	0	0	0	0	1	0	0	0	12121	768	27	1	764	1	PLXNA3	23	153689602	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	10979	153689602	1580958	1657	13979											
LAGE3	8270	broad.mit.edu	37	chrX	153706395	153706395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagtcttcagctttccagCggctaaaagtgaggggaaaa	12	8	2	1			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:153706395C>T	uc004fln.1	-	3	662	c.320G>A	c.(319-321)CGC>CAC	p.R107H		NM_006014	NP_006005	Q14657	LAGE3_HUMAN	L antigen family, member 3	107							protein binding				0	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCTTTCCAGCGGCTAAAAGT	0.562													T	153706395	C	T	153706395	3	4	16	1	0	0	0	0	1	0	0	0	8601	768	27	1	115	1	LAGE3	23	153706395	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	16793	153706395	1564165	1658	13980											
F8	2157	broad.mit.edu	37	chrX	154158195	154158195	+	Frame_Shift_Del	DEL	T	T	-													tccaagttttcttcctccccTttttttgagaaatgagctgt							TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:154158194_154158194CT>C	uc004fmt.3	-	13	4042	c.3871_3871AG>G	c.(3871-3873)gggfs	p.G1291fs		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1291	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCTTCCTCCCCTTTTTTTGAG	0.378													-	154158195	T	-	154158195	7	5	16	1	0	1	0	1	0	0	0	0	5350	1606	56	0	3265	0	F8	23	154158195	Frame_Shift_Del	DEL	T	TCGA-BR-4292-01A-01D-1126-08	451800	154158195	1112365	1659	13981											
RAB39B	116442	broad.mit.edu	37	chrX	154490449	154490449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacattctggaaggacctgCggttggtaatgtcaaataag	13	6	2	0			TCGA-BR-4292-01A-01D-1126-08	TCGA-BR-4292-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7fafe9d-132f-4939-b049-9cc998ec1bc6	126ae43a-7a3b-4037-a5dc-9ad55b2f24bc	g.chrX:154490449C>T	uc004fne.2	-	2	560	c.281G>A	c.(280-282)CGC>CAC	p.R94H		NM_171998	NP_741995	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	94					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAAGGACCTGCGGTTGGTAAT	0.448													T	154490449	C	T	154490449	3	4	16	1	0	0	0	0	1	0	0	0	12930	768	27	1	364	1	RAB39B	23	154490449	Missense_Mutation	SNP	C	TCGA-BR-4292-01A-01D-1126-08	332254	154490449	780111	1660	13982											
CAMTA1	23261	broad.mit.edu	37	chr1	7725006	7725006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctggtgtcgggggacaGcacggcgctctcacagtcag	15	13	2	0			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr1:7725006G>A	uc001aoi.2	+	9	2606	c.2399G>A	c.(2398-2400)AGC>AAC	p.S800N		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	800					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCGGGGGACAGCACGGCGCTC	0.647													A	7725006	G	A	7725006	3	1	17	1	0	0	0	0	1	0	0	0	2613	971	34	2	2433	2	CAMTA1	1	7725006	Missense_Mutation	SNP	G	TCGA-BR-4294-01A-01D-1126-08		7725006	241525615	1	13983											
KIRREL	55243	broad.mit.edu	37	chr1	158045982	158045982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtgctcccctgtgtgctGctcaactactctggaattgt	10	13	2	0			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr1:158045982G>A	uc001frn.3	+	2	536	c.132G>A	c.(130-132)CTG>CTA	p.L44L	KIRREL_uc010pib.1_Intron|KIRREL_uc009wsq.2_5'UTR	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	44	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					CCTGTGTGCTGCTCAACTACT	0.632													A	158045982	G	A	158045982	2	1	17	1	0	0	0	0	0	0	0	1	8324	1306	46	2		2	KIRREL	1	158045982	Silent	SNP	G	TCGA-BR-4294-01A-01D-1126-08	150320976	158045982	91204639	2	13984											
PLXNA2	5362	broad.mit.edu	37	chr1	208216499	208216499	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggtaagggattcctgagcgGtccaggtcactggtcaactc	13	10	2	1			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr1:208216499G>C	uc001hgz.2	-	21	4682	c.3924C>G	c.(3922-3924)GAC>GAG	p.D1308E		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1308	Potential.|Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTCCTGAGCGGTCCAGGTCAC	0.582													C	208216499	G	C	208216499	3	2	17	1	0	0	0	0	1	0	0	0	12120	1252	44	5	1808	5	PLXNA2	1	208216499	Missense_Mutation	SNP	G	TCGA-BR-4294-01A-01D-1126-08	50170517	208216499	41034122	3	13985											
ST3GAL5	8869	broad.mit.edu	37	chr2	86075089	86075089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaggtcttggctttcaagTgttcagggaggtcgtgctct	14	8	4	0			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr2:86075089T>C	uc002sqq.1	-	4	686	c.557A>G	c.(556-558)CAC>CGC	p.H186R	ST3GAL5_uc010fgq.1_Missense_Mutation_p.H58R|ST3GAL5_uc002sqp.1_Missense_Mutation_p.H163R	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	186	Lumenal (Potential).				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity				0						GGCTTTCAAGTGTTCAGGGAG	0.527													C	86075089	T	C	86075089	3	2	17	1	0	0	0	0	1	0	0	0	15217	1696	59	3	715	3	ST3GAL5	2	86075089	Missense_Mutation	SNP	T	TCGA-BR-4294-01A-01D-1126-08		86075089	157124284	4	13986											
BUB1	699	broad.mit.edu	37	chr2	111419292	111419292	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcatttgccaaaggaggaaCaacaggaggtgcctctcttg	12	9	1	0			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr2:111419292C>A	uc002tgc.2	-	10	1196	c.1084G>T	c.(1084-1086)GTT>TTT	p.V362F	BUB1_uc010yxh.1_Missense_Mutation_p.V342F|BUB1_uc010fkb.2_Missense_Mutation_p.V362F|BUB1_uc002tgd.2_Missense_Mutation_p.V362F	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	362					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AAAGGAGGAACAACAGGAGGT	0.517													A	111419292	C	A	111419292	3	1	17	1	0	0	0	0	1	0	0	0	1570	478	17	5	2237	5	BUB1	2	111419292	Missense_Mutation	SNP	C	TCGA-BR-4294-01A-01D-1126-08	25344203	111419292	131780081	5	13987											
ALS2CR8	79800	broad.mit.edu	37	chr2	203848308	203848309	+	Frame_Shift_Ins	INS	-	-	A													cagcattgtctatggaagcaINSaaaaaaactgtggactataa							TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr2:203848307_203848308C>CA	uc002uzo.2	+	15	2418_2419	c.2138_2139C>CA	c.(2137-2139)gcafs	p.A713fs	ALS2CR8_uc010zia.1_Frame_Shift_Ins_p.A637fs|ALS2CR8_uc010zib.1_Frame_Shift_Ins_p.A637fs|ALS2CR8_uc010zic.1_Frame_Shift_Ins_p.A625fs|ALS2CR8_uc002uzp.2_Frame_Shift_Ins_p.A713fs	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	713										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						TCTATGGAAGCAAAAAAAACTG	0.327													A	203848309	-	A	203848308	7	5	17	1	0	1	1	0	0	0	0	0	555	117	5	0	2193	0	ALS2CR8	2	203848308	Frame_Shift_Ins	INS	-	TCGA-BR-4294-01A-01D-1126-08	92429016	203848308	39351065	6	13988											
SPHKAP	80309	broad.mit.edu	37	chr2	228886571	228886572	+	Frame_Shift_Ins	INS	-	-	CCAG													tggagctgtcgctcctgcacINScagttccagaccaatcagaa							TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr2:228886570_228886571A>ACCAG	uc002vpq.2	-	5	600_601	c.553_554T>CTGGT	c.(553-555)gtgfs	p.V185fs	SPHKAP_uc002vpp.2_Frame_Shift_Ins_p.V185fs|SPHKAP_uc010zlx.1_Frame_Shift_Ins_p.V185fs	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	185						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCGCTCCTGCACCAGTTCCAGA	0.455													CCAG	228886572	-	CCAG	228886571	7	5	17	1	0	1	1	0	0	0	0	0	15047	507	18	0	4577	0	SPHKAP	2	228886571	Frame_Shift_Ins	INS	-	TCGA-BR-4294-01A-01D-1126-08	25038263	228886571	14312802	7	13989											
LMOD3	56203	broad.mit.edu	37	chr3	69168779	69168779	+	Missense_Mutation	SNP	C	C	A													cctaactctcctcaagctccCatccaggtctgtctggtttc							TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr3:69168779C>A	uc003dns.2	-	2	936	c.727G>T	c.(727-729)GGG>TGG	p.G243W	LMOD3_uc003dnt.2_Missense_Mutation_p.G243W	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	243						cytoplasm|cytoskeleton	tropomyosin binding			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CTCAAGCTCCCATCCAGGTCT	0.398													A	69168779	C	A	69168779	3	1	17	1	0	0	0	0	1	0	0	0	8858	594	21	5	963	5	LMOD3	3	69168779	Missense_Mutation	SNP	C	TCGA-BR-4294-01A-01D-1126-08		69168779	128853651	8	13990	46	2									
LMOD3	56203	broad.mit.edu	37	chr3	69168781	69168781	+	Missense_Mutation	SNP	T	T	A													taactctcctcaagctcccaTccaggtctgtctggtttcct							TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr3:69168781T>A	uc003dns.2	-	2	934	c.725A>T	c.(724-726)GAT>GTT	p.D242V	LMOD3_uc003dnt.2_Missense_Mutation_p.D242V	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	242						cytoplasm|cytoskeleton	tropomyosin binding			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CAAGCTCCCATCCAGGTCTGT	0.403													A	69168781	T	A	69168781	3	1	17	1	0	0	0	0	1	0	0	0	8858	1435	50	5	965	5	LMOD3	3	69168781	Missense_Mutation	SNP	T	TCGA-BR-4294-01A-01D-1126-08	2	69168781	128853649	9	13991	46	2									
BAI3	577	broad.mit.edu	37	chr6	70064152	70064152	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcatttagatgccgattgAgaaactgtcaggatcccatc	9	9	1	2			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr6:70064152A>C	uc003pev.3	+	27	3935	c.3487A>C	c.(3487-3489)AGA>CGA	p.R1163R	BAI3_uc010kak.2_Silent_p.R1163R|BAI3_uc011dxx.1_Silent_p.R369R	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1163	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				ATGCCGATTGAGAAACTGTCA	0.398													C	70064152	A	C	70064152	2	2	17	1	0	0	0	0	0	0	0	1	1300	296	11	5		5	BAI3	6	70064152	Silent	SNP	A	TCGA-BR-4294-01A-01D-1126-08		70064152	101050915	10	13992											
NCOA2	10499	broad.mit.edu	37	chr8	71071839	71071839	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagcaacaagagtgccatcaGacaaggaaaaacgatagatt	9	8	1	3			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr8:71071839G>A	uc003xyn.1	-	10	1187	c.1025C>T	c.(1024-1026)TCT>TTT	p.S342F		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	342					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AGTGCCATCAGACAAGGAAAA	0.413			T	RUNXBP2	AML								A	71071839	G	A	71071839	3	1	17	1	0	0	0	0	1	0	0	0	10229	942	33	4	3425	4	NCOA2	8	71071839	Missense_Mutation	SNP	G	TCGA-BR-4294-01A-01D-1126-08		71071839	75292183	11	13993											
KIAA2026	158358	broad.mit.edu	37	chr9	5922218	5922218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgcttcagaagaatcagCagtctgttgtgcaaaacagt	9	8	3	2			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr9:5922218C>T	uc003zjq.3	-	8	3994	c.3778G>A	c.(3778-3780)GCT>ACT	p.A1260T	KIAA2026_uc010mht.2_Missense_Mutation_p.A435T	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	1260										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GAAGAATCAGCAGTCTGTTGT	0.438													T	5922218	C	T	5922218	3	4	17	1	0	0	0	0	1	0	0	0	8270	710	25	2	2537	2	KIAA2026	9	5922218	Missense_Mutation	SNP	C	TCGA-BR-4294-01A-01D-1126-08		5922218	135291213	12	13994											
TAF1L	138474	broad.mit.edu	37	chr9	32631710	32631710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgttagtcctcatatgtcCaatggcaccacatgccccac	6	14	1	0			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr9:32631710C>T	uc003zrg.1	-	1	3958	c.3868G>A	c.(3868-3870)GGA>AGA	p.G1290R	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1290					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTCATATGTCCAATGGCACCA	0.473													T	32631710	C	T	32631710	3	4	17	1	0	0	0	0	1	0	0	0	15520	603	21	4	1616	4	TAF1L	9	32631710	Missense_Mutation	SNP	C	TCGA-BR-4294-01A-01D-1126-08	26709492	32631710	108581721	13	13995											
ITIH5	80760	broad.mit.edu	37	chr10	7608308	7608308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatagtgcgcaagtaagtgcGctgtttcttgtggccatttg	13	7	1	0			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr10:7608308G>A	uc001ijq.2	-	13	2291	c.2212C>T	c.(2212-2214)CGC>TGC	p.R738C	ITIH5_uc001ijp.2_Missense_Mutation_p.R524C	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	738					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						AAGTAAGTGCGCTGTTTCTTG	0.502													A	7608308	G	A	7608308	3	1	17	1	0	0	0	0	1	0	0	0	7907	1087	38	1	666	1	ITIH5	10	7608308	Missense_Mutation	SNP	G	TCGA-BR-4294-01A-01D-1126-08		7608308	127926439	14	13996											
C10orf54	64115	broad.mit.edu	37	chr10	73521610	73521610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggttgcggatgggccggcGctctgagcaggtctgcacct	17	11	2	1			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr10:73521610G>A	uc001jsd.2	-	2	397	c.256C>T	c.(256-258)CGC>TGC	p.R86C	CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_5'UTR|C10orf54_uc009xqm.2_Intron|C10orf54_uc001jsf.1_Missense_Mutation_p.R86C	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	platelet receptor Gi24 precursor	86	Ig-like.|Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)|central_nervous_system(1)	3						ATGGGCCGGCGCTCTGAGCAG	0.652													A	73521610	G	A	73521610	3	1	17	1	0	0	0	0	1	0	0	0	1607	1087	38	1	703	1	C10orf54	10	73521610	Missense_Mutation	SNP	G	TCGA-BR-4294-01A-01D-1126-08	65913302	73521610	62013137	15	13997											
RNLS	55328	broad.mit.edu	37	chr10	90341418	90341418	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaccattccttcaataggCgagcttagaggcctcaaaac	7	12	3	1	rs148977593		TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr10:90341418C>T	uc001kfe.2	-	3	408	c.273G>A	c.(271-273)TCG>TCA	p.S91S	RNLS_uc010qms.1_Intron|RNLS_uc001kfd.2_Silent_p.S91S	NM_001031709	NP_001026879	Q5VYX0	RNLS_HUMAN	renalase isoform 1	91						extracellular region	oxidoreductase activity			ovary(1)	1						CTTCAATAGGCGAGCTTAGAG	0.348													T	90341418	C	T	90341418	2	4	17	1	0	0	0	0	0	0	0	1	13505	755	27	1		1	RNLS	10	90341418	Silent	SNP	C	TCGA-BR-4294-01A-01D-1126-08	16819808	90341418	45193329	16	13998											
CWF19L1	55280	broad.mit.edu	37	chr10	102006563	102006563	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaacataccacaggggcaaGaatttgctttcctatggatg	10	8	0	2			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr10:102006563G>A	uc001kqq.1	-	8	925	c.838C>T	c.(838-840)CTT>TTT	p.L280F	CWF19L1_uc001kqs.1_Missense_Mutation_p.L32F|CWF19L1_uc001kqr.1_Missense_Mutation_p.L280F|CWF19L1_uc001kqt.1_5'UTR|CWF19L1_uc010qpn.1_Missense_Mutation_p.L143F	NM_018294	NP_060764	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control	280							catalytic activity				0		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		ACAGGGGCAAGAATTTGCTTT	0.398													A	102006563	G	A	102006563	3	1	17	1	0	0	0	0	1	0	0	0	4071	942	33	4	806	4	CWF19L1	10	102006563	Missense_Mutation	SNP	G	TCGA-BR-4294-01A-01D-1126-08	11665145	102006563	33528184	17	13999											
PHLDA2	7262	broad.mit.edu	37	chr11	2950367	2950367	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggaagtcgatctccttgtgGtcggtggtgacgatggtgaa	16	7	1	2			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr11:2950367G>T	uc001lxa.1	-	1	284	c.228C>A	c.(226-228)GAC>GAA	p.D76E		NM_003311	NP_003302	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain family A member	76	PH.				apoptosis	cytoplasm|membrane					0		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTCCTTGTGGTCGGTGGTGA	0.662													T	2950367	G	T	2950367	3	4	17	1	0	0	0	0	1	0	0	0	11849	1252	44	5	234	5	PHLDA2	11	2950367	Missense_Mutation	SNP	G	TCGA-BR-4294-01A-01D-1126-08		2950367	132056149	18	14000											
PAMR1	25891	broad.mit.edu	37	chr11	35513643	35513643	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactctgcacagtagaacCccttcacatagaagtcatcc	7	14	3	2			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr11:35513643C>G	uc001mwg.2	-	3	372	c.329G>C	c.(328-330)GGG>GCG	p.G110A	PAMR1_uc001mwf.2_Missense_Mutation_p.G110A|PAMR1_uc010rew.1_Missense_Mutation_p.G110A|PAMR1_uc010rex.1_Missense_Mutation_p.G70A	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	110					proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						ACAGTAGAACCCCTTCACATA	0.502													G	35513643	C	G	35513643	3	3	17	1	0	0	0	0	1	0	0	0	11413	623	22	5	1924	5	PAMR1	11	35513643	Missense_Mutation	SNP	C	TCGA-BR-4294-01A-01D-1126-08	32563276	35513643	99492873	19	14001											
TMEM126B	55863	broad.mit.edu	37	chr11	85347202	85347202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtctttcagattatgtttGgaatattaaatggtctatac	7	4	3	1			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr11:85347202G>A	uc001pao.2	+	6	784	c.532G>A	c.(532-534)GGA>AGA	p.G178R	TMEM126B_uc001pap.2_Missense_Mutation_p.G178R|TMEM126B_uc001paq.1_3'UTR	NM_018480	NP_060950	Q8IUX1	T126B_HUMAN	transmembrane protein 126B	208	Helical; (Potential).					integral to membrane					0		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GATTATGTTTGGAATATTAAA	0.348													A	85347202	G	A	85347202	3	1	17	1	0	0	0	0	1	0	0	0	16036	1349	47	4	546	4	TMEM126B	11	85347202	Missense_Mutation	SNP	G	TCGA-BR-4294-01A-01D-1126-08	49833559	85347202	49659314	20	14002											
ZBTB39	9880	broad.mit.edu	37	chr12	57397688	57397688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcatggccttattctcCcgattgtcattctctccaaa	7	13	3	0			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr12:57397688C>T	uc001sml.1	-	2	1100	c.1014G>A	c.(1012-1014)CGG>CGA	p.R338R	RDH16_uc010sqx.1_5'Flank	NM_014830	NP_055645	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1						CCTTATTCTCCCGATTGTCAT	0.517													T	57397688	C	T	57397688	2	4	17	1	0	0	0	0	0	0	0	1	17537	610	22	4		4	ZBTB39	12	57397688	Silent	SNP	C	TCGA-BR-4294-01A-01D-1126-08		57397688	76454207	21	14003											
BTBD11	121551	broad.mit.edu	37	chr12	108004034	108004034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgaagccaagtttaagcagGacctgggtttccggatgctg	13	9	0	0			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr12:108004034G>A	uc001tmk.1	+	5	2232	c.1711G>A	c.(1711-1713)GAC>AAC	p.D571N	BTBD11_uc009zut.1_Missense_Mutation_p.D571N|BTBD11_uc001tmj.2_Missense_Mutation_p.D571N|BTBD11_uc001tml.1_Missense_Mutation_p.D108N	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	571						integral to membrane	DNA binding			skin(2)|ovary(1)	3						GTTTAAGCAGGACCTGGGTTT	0.562											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	108004034	G	A	108004034	3	1	17	1	0	0	0	0	1	0	0	0	1539	1174	41	4	1834	4	BTBD11	12	108004034	Missense_Mutation	SNP	G	TCGA-BR-4294-01A-01D-1126-08	50606346	108004034	25847861	22	14004											
SPRED1	161742	broad.mit.edu	37	chr15	38643405	38643405	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agacagtaaaaaatcagactAtctgtactcttgtggggatg	10	6	3	2			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr15:38643405A>T	uc001zka.3	+	7	1210	c.875A>T	c.(874-876)TAT>TTT	p.Y292F		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	292					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AAATCAGACTATCTGTACTCT	0.383									Legius_syndrome				T	38643405	A	T	38643405	3	4	17	1	0	0	0	0	1	0	0	0	15091	449	16	5	901	5	SPRED1	15	38643405	Missense_Mutation	SNP	A	TCGA-BR-4294-01A-01D-1126-08		38643405	63887987	23	14005											
FSIP1	161835	broad.mit.edu	37	chr15	40018838	40018838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaactggaaattgtaggGgaggctgcagagagttcttg	15	4	1	1			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr15:40018838G>A	uc001zki.2	-	9	1220	c.1002C>T	c.(1000-1002)TCC>TCT	p.S334S		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	334										ovary(2)|skin(1)	3		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AAATTGTAGGGGAGGCTGCAG	0.423													A	40018838	G	A	40018838	2	1	17	1	0	0	0	0	0	0	0	1	6074	1219	43	4		4	FSIP1	15	40018838	Silent	SNP	G	TCGA-BR-4294-01A-01D-1126-08	1375433	40018838	62512554	24	14006											
USP7	7874	broad.mit.edu	37	chr16	9009114	9009114	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atacacacaacacttactatTtttctttcctttgatactta	1	10	1	1			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr16:9009114T>A	uc002czl.2	-	10	1274	c.1075A>T	c.(1075-1077)AAT>TAT	p.N359Y	USP7_uc010uyk.1_Missense_Mutation_p.N260Y|USP7_uc010uyj.1_Missense_Mutation_p.N260Y|USP7_uc002czk.2_Missense_Mutation_p.N343Y|USP7_uc010uyl.1_RNA	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	359					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						CACTTACTATTTTTCTTTCCT	0.294													A	9009114	T	A	9009114	3	1	17	1	0	0	0	0	1	0	0	0	17085	1841	64	5	2321	5	USP7	16	9009114	Missense_Mutation	SNP	T	TCGA-BR-4294-01A-01D-1126-08		9009114	81345639	25	14007											
STX4	6810	broad.mit.edu	37	chr16	31051116	31051116	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatcattggcgtcacagtgGttggataatgtcgcacattg	11	8	3	0			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr16:31051116G>T	uc002eal.2	+	10	1110	c.886G>T	c.(886-888)GTT>TTT	p.V296F	STX4_uc002eak.2_Missense_Mutation_p.V294F|STX4_uc002eam.2_Missense_Mutation_p.V218F|uc002ean.1_5'Flank	NM_004604	NP_004595	Q12846	STX4_HUMAN	syntaxin 4	296	Helical; Anchor for type IV membrane protein; (Potential).|Interaction with CENPF (By similarity).				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity				0						CGTCACAGTGGTTGGATAATG	0.587													T	31051116	G	T	31051116	3	4	17	1	0	0	0	0	1	0	0	0	15346	1261	44	5	924	5	STX4	16	31051116	Missense_Mutation	SNP	G	TCGA-BR-4294-01A-01D-1126-08	22042002	31051116	59303637	26	14008											
FTO	79068	broad.mit.edu	37	chr16	53913791	53913791	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggattatattttacaacgCtgtcagttggctctgcagaa	9	7	2	1			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr16:53913791C>T	uc002ehr.2	+	6	1233	c.1011C>T	c.(1009-1011)CGC>CGT	p.R337R	FTO_uc010vha.1_Silent_p.R41R	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	337					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						TTTTACAACGCTGTCAGTTGG	0.408													T	53913791	C	T	53913791	2	4	17	1	0	0	0	0	0	0	0	1	6086	784	28	2		2	FTO	16	53913791	Silent	SNP	C	TCGA-BR-4294-01A-01D-1126-08	22862675	53913791	36440962	27	14009											
LRRC46	90506	broad.mit.edu	37	chr17	45913414	45913414	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcagatgagttcccccagaGccttctcatcctcaacctgt	7	15	2	3			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr17:45913414G>C	uc002ima.2	+	6	654	c.398G>C	c.(397-399)AGC>ACC	p.S133T	LRRC46_uc002imb.2_Missense_Mutation_p.S86T	NM_033413	NP_219481	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	133										ovary(1)	1						TTCCCCCAGAGCCTTCTCATC	0.448													C	45913414	G	C	45913414	3	2	17	1	0	0	0	0	1	0	0	0	9003	971	34	5	420	5	LRRC46	17	45913414	Missense_Mutation	SNP	G	TCGA-BR-4294-01A-01D-1126-08		45913414	35281796	28	14010											
MED13	9969	broad.mit.edu	37	chr17	60140634	60140634	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgggccttgccatacatatTttttccacttaattcctgtc	5	11	0	0			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr17:60140634T>A	uc002izo.2	-	2	172	c.95A>T	c.(94-96)AAA>ATA	p.K32I		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	32					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						CCATACATATTTTTTCCACTT	0.393													A	60140634	T	A	60140634	3	1	17	1	0	0	0	0	1	0	0	0	9430	1841	64	5	6545	5	MED13	17	60140634	Missense_Mutation	SNP	T	TCGA-BR-4294-01A-01D-1126-08	14227220	60140634	21054576	29	14011											
MUC16	94025	broad.mit.edu	37	chr19	9085666	9085666	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tagtgaggtcccatagccagGaagtgattgcattcctccta	10	10	0	2	rs34029599		TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr19:9085666G>T	uc002mkp.2	-	1	6353	c.6149C>A	c.(6148-6150)TCC>TAC	p.S2050Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2050	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCATAGCCAGGAAGTGATTGC	0.483													T	9085666	G	T	9085666	3	4	17	1	0	0	0	0	1	0	0	0	9973	1174	41	5	37710	5	MUC16	19	9085666	Missense_Mutation	SNP	G	TCGA-BR-4294-01A-01D-1126-08		9085666	50043317	30	14012											
NCAN	1463	broad.mit.edu	37	chr19	19338422	19338422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcacatggtgaggccaccGccacggctccaccctcccct	10	19	0	1			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr19:19338422G>A	uc002nlz.2	+	8	2092	c.1993G>A	c.(1993-1995)GCC>ACC	p.A665T	NCAN_uc010ecc.1_Missense_Mutation_p.A229T	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	665					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			TGAGGCCACCGCCACGGCTCC	0.607													A	19338422	G	A	19338422	3	1	17	1	0	0	0	0	1	0	0	0	10204	1087	38	1	2019	1	NCAN	19	19338422	Missense_Mutation	SNP	G	TCGA-BR-4294-01A-01D-1126-08	10252756	19338422	39790561	31	14013											
ZNF534	147658	broad.mit.edu	37	chr19	52941686	52941686	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taatccatactggagagaaaCcttatgattgtaaggaatgt	9	5	0	2			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr19:52941686C>A	uc002pzk.2	+	4	1073	c.1012C>A	c.(1012-1014)CCT>ACT	p.P338T	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.P325T	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	zinc finger protein 534 isoform 2	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGGAGAGAAACCTTATGATTG	0.408													A	52941686	C	A	52941686	3	1	17	1	0	0	0	0	1	0	0	0	17970	507	18	5	1026	5	ZNF534	19	52941686	Missense_Mutation	SNP	C	TCGA-BR-4294-01A-01D-1126-08	33603264	52941686	6187297	32	14014											
NINL	22981	broad.mit.edu	37	chr20	25470531	25470531	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cttgtccttcagcacaaactCcaggtccttctgcagcttca	6	15	3	0			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chr20:25470531C>G	uc002wux.1	-	12	1650	c.1576G>C	c.(1576-1578)GAG>CAG	p.E526Q	NINL_uc010gdn.1_Missense_Mutation_p.E526Q|NINL_uc010gdo.1_Missense_Mutation_p.E309Q	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	526	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						AGCACAAACTCCAGGTCCTTC	0.597													G	25470531	C	G	25470531	3	3	17	1	0	0	0	0	1	0	0	0	10420	864	30	5	2624	5	NINL	20	25470531	Missense_Mutation	SNP	C	TCGA-BR-4294-01A-01D-1126-08		25470531	37554989	33	14015											
MED12	9968	broad.mit.edu	37	chrX	70349258	70349258	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atggagccgtgtttgctgttCtcaaggctgtgtttgtactt	12	7	1	0			TCGA-BR-4294-01A-01D-1126-08	TCGA-BR-4294-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb82319e-a676-4d80-b3e6-95f29d9266b3	5afac6e7-55d3-49a2-89e4-6509ed424a83	g.chrX:70349258C>T	uc004dyy.2	+	26	3869	c.3670C>T	c.(3670-3672)CTC>TTC	p.L1224F	MED12_uc011mpq.1_Missense_Mutation_p.L1224F|MED12_uc004dyz.2_Missense_Mutation_p.L1224F|MED12_uc004dza.2_Missense_Mutation_p.L1071F|MED12_uc010nla.2_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1224					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					GTTTGCTGTTCTCAAGGCTGT	0.562											OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	70349258	C	T	70349258	3	4	17	1	0	0	0	0	1	0	0	0	9428	913	32	4	3772	4	MED12	23	70349258	Missense_Mutation	SNP	C	TCGA-BR-4294-01A-01D-1126-08		70349258	84921302	34	14016											
AJAP1	55966	broad.mit.edu	37	chr1	4772679	4772679	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaaggatcccaggtggggTtagcacaacggagccttcca	14	10	0	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:4772679T>G	uc001alm.1	+	2	1130	c.749T>G	c.(748-750)GTT>GGT	p.V250G	AJAP1_uc001aln.2_Missense_Mutation_p.V250G	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	250	Extracellular (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCAGGTGGGGTTAGCACAACG	0.498													G	4772679	T	G	4772679	3	3	18	1	0	0	0	0	1	0	0	0	438	1725	60	5	755	5	AJAP1	1	4772679	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08		4772679	244477942	1	14017											
DNAJC11	55735	broad.mit.edu	37	chr1	6706032	6706032	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcagagcacagtttgttgtCacaaagctggagagacacag	12	8	1	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:6706032C>T	uc001aof.2	-	8	817	c.711G>A	c.(709-711)GTG>GTA	p.V237V	DNAJC11_uc010nzt.1_Silent_p.V199V|DNAJC11_uc001aog.2_Silent_p.V237V|DNAJC11_uc010nzu.1_Silent_p.V147V	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	237					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		AGTTTGTTGTCACAAAGCTGG	0.532													T	6706032	C	T	6706032	2	4	18	1	0	0	0	0	0	0	0	1	4630	813	29	4		4	DNAJC11	1	6706032	Silent	SNP	C	TCGA-BR-4357-01A-01D-1158-08	1933353	6706032	242544589	2	14018											
PER3	8863	broad.mit.edu	37	chr1	7848192	7848192	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgatcctgaatcgtaagaaaGatgtcctggcgtcttctcac	9	10	2	4			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:7848192G>C	uc001aoo.2	+	4	653	c.478G>C	c.(478-480)GAT>CAT	p.D160H	PER3_uc009vmg.1_Missense_Mutation_p.D160H|PER3_uc009vmh.1_Missense_Mutation_p.D160H|PER3_uc001aop.2_Missense_Mutation_p.D160H|PER3_uc010nzw.1_5'UTR|PER3_uc001aon.2_Missense_Mutation_p.D160H	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	160	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TCGTAAGAAAGATGTCCTGGC	0.448													C	7848192	G	C	7848192	3	2	18	1	0	0	0	0	1	0	0	0	11731	942	33	5	492	5	PER3	1	7848192	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	1142160	7848192	241402429	3	14019											
ENO1	2023	broad.mit.edu	37	chr1	8925441	8925441	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacttgaagtccaggtcataCttcccagacctgaagaactc	8	12	1	4			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:8925441C>A	uc001apj.1	-	8	919	c.768G>T	c.(766-768)AAG>AAT	p.K256N	ENO1_uc001api.1_Missense_Mutation_p.K160N|ENO1_uc001apk.1_Missense_Mutation_p.K201N|ENO1_uc001apl.1_Missense_Mutation_p.K256N|ENO1_uc009vmi.1_Missense_Mutation_p.K213N|ENO1_uc009vmj.1_Missense_Mutation_p.K256N|ENO1_uc009vmk.1_Missense_Mutation_p.K130N|ENO1_uc009vml.1_Missense_Mutation_p.K256N	NM_001428	NP_001419	P06733	ENOA_HUMAN	enolase 1	256					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|kidney(1)|central_nervous_system(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CCAGGTCATACTTCCCAGACC	0.557													A	8925441	C	A	8925441	3	1	18	1	0	0	0	0	1	0	0	0	5121	564	20	5	556	5	ENO1	1	8925441	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	1077249	8925441	240325180	4	14020											
CASZ1	54897	broad.mit.edu	37	chr1	10713947	10713947	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggagaagtcaacaaggtcgtCgttgctggactcctcgtgct	13	10	1	1	rs139467760		TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:10713947C>A	uc001aro.2	-	11	2487	c.2167G>T	c.(2167-2169)GAC>TAC	p.D723Y	CASZ1_uc001arp.1_Missense_Mutation_p.D723Y|CASZ1_uc009vmx.2_Missense_Mutation_p.D747Y	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	723					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		ACAAGGTCGTCGTTGCTGGAC	0.692													A	10713947	C	A	10713947	3	1	18	1	0	0	0	0	1	0	0	0	2685	884	31	5	3160	5	CASZ1	1	10713947	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	1788506	10713947	238536674	5	14021											
VPS13D	55187	broad.mit.edu	37	chr1	12418626	12418626	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttgaaagtcatccagcaAggaaaccgcccagggctgat	11	11	1	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:12418626A>G	uc001atv.2	+	50	10251	c.10110A>G	c.(10108-10110)CAA>CAG	p.Q3370Q	VPS13D_uc001atw.2_Silent_p.Q3345Q|VPS13D_uc001atx.2_Silent_p.Q2557Q	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3369					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCATCCAGCAAGGAAACCGCC	0.547													G	12418626	A	G	12418626	2	3	18	1	0	0	0	0	0	0	0	1	17189	69	3	3		3	VPS13D	1	12418626	Silent	SNP	A	TCGA-BR-4357-01A-01D-1158-08	1704679	12418626	236831995	6	14022											
SPEN	23013	broad.mit.edu	37	chr1	16260874	16260874	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccactccagtgaacgcCacggtgggcacagtgaatgc	11	14	1	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:16260874C>A	uc001axk.1	+	11	8343	c.8139C>A	c.(8137-8139)GCC>GCA	p.A2713A	SPEN_uc010obp.1_Silent_p.A2672A	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2713	Interaction with RBPSUH (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGTGAACGCCACGGTGGGCA	0.592													A	16260874	C	A	16260874	2	1	18	1	0	0	0	0	0	0	0	1	15037	581	21	5		5	SPEN	1	16260874	Silent	SNP	C	TCGA-BR-4357-01A-01D-1158-08	3842248	16260874	232989747	7	14023											
CELA3A	10136	broad.mit.edu	37	chr1	22329520	22329520	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggctatggcccaccttcctCtcactcttccagccgcgttg	8	17	2	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:22329520C>T	uc001bfl.2	+	2	87	c.68C>T	c.(67-69)TCT>TTT	p.S23F	CELA3B_uc009vqf.2_Intron	NM_005747	NP_005738	P09093	CEL3A_HUMAN	elastase 3A, pancreatic preproprotein	23					cholesterol metabolic process|digestion|proteolysis		serine-type endopeptidase activity			haematopoietic_and_lymphoid_tissue(1)	1						CCACCTTCCTCTCACTCTTCC	0.532													T	22329520	C	T	22329520	3	4	18	1	0	0	0	0	1	0	0	0	3213	913	32	4	74	4	CELA3A	1	22329520	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	6068646	22329520	226921101	8	14024											
EIF2C4	192670	broad.mit.edu	37	chr1	36297664	36297664	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgttctttaggtgaagAgcaacagtatggtgggtgga	14	5	1	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:36297664A>C	uc001bzj.1	+	10	1313	c.1123A>C	c.(1123-1125)AGC>CGC	p.S375R		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	eukaryotic translation initiation factor 2C, 4	375					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)				TTAGGTGAAGAGCAACAGTAT	0.423													C	36297664	A	C	36297664	3	2	18	1	0	0	0	0	1	0	0	0	5008	304	11	5	1161	5	EIF2C4	1	36297664	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	13968144	36297664	212952957	9	14025											
B4GALT2	8704	broad.mit.edu	37	chr1	44450633	44450633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgactgcttcatcttcagcGatgtggacctggtccccatg	10	12	3	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:44450633G>A	uc001clg.2	+	4	1016	c.646G>A	c.(646-648)GAT>AAT	p.D216N	B4GALT2_uc001clh.2_Missense_Mutation_p.D150N|B4GALT2_uc010okl.1_Missense_Mutation_p.D245N|B4GALT2_uc001cli.2_Missense_Mutation_p.D216N	NM_003780	NP_003771	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	216	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CATCTTCAGCGATGTGGACCT	0.592													A	44450633	G	A	44450633	3	1	18	1	0	0	0	0	1	0	0	0	1271	1058	37	1	656	1	B4GALT2	1	44450633	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	8152969	44450633	204799988	10	14026											
GPR61	83873	broad.mit.edu	37	chr1	110085853	110085853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggccgtgatcgccaagaCgcctgccctccgaaaatttg	11	13	0	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:110085853C>T	uc001dxy.2	+	2	892	c.209C>T	c.(208-210)ACG>ATG	p.T70M		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	70	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		ATCGCCAAGACGCCTGCCCTC	0.607													T	110085853	C	T	110085853	3	4	18	1	0	0	0	0	1	0	0	0	6702	536	19	1	211	1	GPR61	1	110085853	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	65635220	110085853	139164768	11	14027											
CHI3L2	1117	broad.mit.edu	37	chr1	111773550	111773550	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgctctaccagaccatcaAcagtctcaaaaccaagtgag	7	12	3	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:111773550A>G	uc001eam.2	+	3	328	c.257A>G	c.(256-258)AAC>AGC	p.N86S	CHI3L2_uc001ean.2_Missense_Mutation_p.N76S|CHI3L2_uc001eao.2_Missense_Mutation_p.N7S|CHI3L2_uc009wga.2_Missense_Mutation_p.N7S	NM_004000	NP_003991	Q15782	CH3L2_HUMAN	chitinase 3-like 2 isoform a	86					chitin catabolic process	extracellular space	cation binding|chitinase activity			central_nervous_system(1)	1		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		CAGACCATCAACAGTCTCAAA	0.448													G	111773550	A	G	111773550	3	3	18	1	0	0	0	0	1	0	0	0	3341	43	2	3	267	3	CHI3L2	1	111773550	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	1687697	111773550	137477071	12	14028											
SYCP1	6847	broad.mit.edu	37	chr1	115420777	115420783	+	Frame_Shift_Del	DEL	GCTAGAG	GCTAGAG	-													atgaaagatttaacatttctGctagaggaatccagagataa							TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:115420776_115420782TGCTAGAG>T	uc001efr.3	+	11	1072_1078	c.863_869TGCTAGAG>T	c.(862-870)ctgctagagfs	p.L288fs	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Frame_Shift_Del_p.L288fs|SYCP1_uc009wgw.3_Frame_Shift_Del_p.L288fs	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	288					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.E290Q(2)	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)		TTAACATTTCTGCTAGAGGAATCCAGA	0.246													-	115420783	GCTAGAG	-	115420777	7	5	18	1	0	1	0	1	0	0	0	0	15428	1306	46	0	906	0	SYCP1	1	115420777	Frame_Shift_Del	DEL	GCTAGAG	TCGA-BR-4357-01A-01D-1158-08	3647227	115420777	133829844	13	14029											
LCE3D	84648	broad.mit.edu	37	chr1	152552306	152552306	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccagagcttggggcacagCcagaggaagctggaggcaga	16	11	0	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:152552306C>A	uc001fab.2	-	2	164	c.107G>T	c.(106-108)GGC>GTC	p.G36V		NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	36					keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		TGGGGCACAGCCAGAGGAAGC	0.662													A	152552306	C	A	152552306	3	1	18	1	0	0	0	0	1	0	0	0	8672	739	26	5	175	5	LCE3D	1	152552306	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	37131529	152552306	96698315	14	14030											
ASH1L	55870	broad.mit.edu	37	chr1	155448757	155448757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgacttcgatgagtgatccGaatttcacttaggcgactta	9	8	1	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:155448757G>A	uc009wqq.2	-	3	4384	c.3904C>T	c.(3904-3906)CGG>TGG	p.R1302W	ASH1L_uc001fkt.2_Missense_Mutation_p.R1302W|ASH1L_uc009wqr.1_Missense_Mutation_p.R1302W	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1302					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGAGTGATCCGAATTTCACTT	0.398													A	155448757	G	A	155448757	3	1	18	1	0	0	0	0	1	0	0	0	1041	1057	37	1	5094	1	ASH1L	1	155448757	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	2896451	155448757	93801864	15	14031											
GPATCH4	54865	broad.mit.edu	37	chr1	156567853	156567853	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacttctgatacagcaagtTgggcttgggatgattataac	10	6	1	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:156567853T>G	uc001fpm.2	-	5	361	c.322A>C	c.(322-324)AAC>CAC	p.N108H	GPATCH4_uc001fpl.2_Missense_Mutation_p.N103H	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4 isoform 1	103						intracellular	nucleic acid binding			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TACAGCAAGTTGGGCTTGGGA	0.463													G	156567853	T	G	156567853	3	3	18	1	0	0	0	0	1	0	0	0	6593	1812	63	5	821	5	GPATCH4	1	156567853	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	1119096	156567853	92682768	16	14032											
FCRL4	83417	broad.mit.edu	37	chr1	157557239	157557239	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaagaagttgaagtgaAgtggggtgtctgaccgctct	14	7	3	5			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:157557239A>C	uc001fqw.2	-	5	810	c.674T>G	c.(673-675)CTT>CGT	p.L225R	FCRL4_uc010phy.1_RNA	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	225	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)|skin(1)	4	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GTTGAAGTGAAGTGGGGTGTC	0.532													C	157557239	A	C	157557239	3	2	18	1	0	0	0	0	1	0	0	0	5797	72	3	5	905	5	FCRL4	1	157557239	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	989386	157557239	91693382	17	14033											
SPTA1	6708	broad.mit.edu	37	chr1	158590112	158590112	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agccctagccagggaggccaAgaagtcctcatggtctttct	11	12	3	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:158590112A>T	uc001fst.1	-	44	6464	c.6265T>A	c.(6265-6267)TTG>ATG	p.L2089M		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2089	Spectrin 20.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					AGGGAGGCCAAGAAGTCCTCA	0.493													T	158590112	A	T	158590112	3	4	18	1	0	0	0	0	1	0	0	0	15115	69	3	5	1030	5	SPTA1	1	158590112	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	1032873	158590112	90660509	18	14034											
PPOX	5498	broad.mit.edu	37	chr1	161140706	161140706	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctcttctcagaactgcattCcccagtatacactaggtcac	5	14	3	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:161140706C>A	uc001fyj.2	+	12	1548	c.1258C>A	c.(1258-1260)CCC>ACC	p.P420T	PPOX_uc001fyn.2_Missense_Mutation_p.P128T|PPOX_uc001fyg.2_Missense_Mutation_p.P420T|PPOX_uc001fyl.2_Missense_Mutation_p.P386T|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_Missense_Mutation_p.P258T|PPOX_uc001fyh.2_Missense_Mutation_p.P258T|PPOX_uc010pkg.1_Missense_Mutation_p.P258T|PPOX_uc009wuc.1_Missense_Mutation_p.P221T|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	420					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			ovary(1)	1	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GAACTGCATTCCCCAGTATAC	0.473									Porphyria_Variegata				A	161140706	C	A	161140706	3	1	18	1	0	0	0	0	1	0	0	0	12348	855	30	5	1300	5	PPOX	1	161140706	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	2550594	161140706	88109915	19	14035											
OLFML2B	25903	broad.mit.edu	37	chr1	161967729	161967729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctgttctgactgtggtggGaggcactgggactgtgtgca	17	7	2	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:161967729G>A	uc001gbu.2	-	6	1784	c.1360C>T	c.(1360-1362)CCC>TCC	p.P454S	OLFML2B_uc010pkq.1_Missense_Mutation_p.P455S	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	454										skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ACTGTGGTGGGAGGCACTGGG	0.617													A	161967729	G	A	161967729	3	1	18	1	0	0	0	0	1	0	0	0	10858	1174	41	4	904	4	OLFML2B	1	161967729	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	827023	161967729	87282892	20	14036											
BLZF1	8548	broad.mit.edu	37	chr1	169349731	169349731	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttttcagggtaatggcagaTgagttaaccaactcaagagc	10	7	2	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:169349731T>A	uc001gfx.1	+	5	1118	c.681T>A	c.(679-681)GAT>GAA	p.D227E	BLZF1_uc001gfy.2_Missense_Mutation_p.D227E|BLZF1_uc009wvp.1_Missense_Mutation_p.D204E	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	227					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			skin(1)	1	all_hematologic(923;0.208)					TAATGGCAGATGAGTTAACCA	0.368													A	169349731	T	A	169349731	3	1	18	1	0	0	0	0	1	0	0	0	1453	1461	51	5	695	5	BLZF1	1	169349731	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	7382002	169349731	79900890	21	14037											
PAPPA2	60676	broad.mit.edu	37	chr1	176661333	176661333	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctatttggacctagtctatCagcagtggactgaaagcaga	11	8	2	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:176661333C>T	uc001gkz.2	+	6	3667	c.2503C>T	c.(2503-2505)CAG>TAG	p.Q835*	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	835					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						CCTAGTCTATCAGCAGTGGAC	0.502													T	176661333	C	T	176661333	4	4	18	1	0	0	0	0	0	1	0	0	11433	827	29	4	2574	4	PAPPA2	1	176661333	Nonsense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	7311602	176661333	72589288	22	14038											
FAM5C	339479	broad.mit.edu	37	chr1	190067498	190067498	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttccgggaagggtcaataaActccagaggttcatagtaaa	11	7	2	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:190067498A>C	uc001gse.1	-	8	2183	c.1951T>G	c.(1951-1953)TTT>GTT	p.F651V	FAM5C_uc010pot.1_Missense_Mutation_p.F549V	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	651						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					GGGTCAATAAACTCCAGAGGT	0.428													C	190067498	A	C	190067498	3	2	18	1	0	0	0	0	1	0	0	0	5594	43	2	5	353	5	FAM5C	1	190067498	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	13406165	190067498	59183123	23	14039											
NR5A2	2494	broad.mit.edu	37	chr1	200008793	200008793	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcccgtgtccaggtgctggGcttccggaccgacacggatc	14	14	0	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:200008793G>C	uc001gvb.2	+	2	278	c.72G>C	c.(70-72)GGG>GGC	p.G24G	NR5A2_uc001gvc.2_Intron|NR5A2_uc009wzh.2_5'UTR|NR5A2_uc010pph.1_5'Flank|NR5A2_uc009wzg.1_RNA	NM_205860	NP_995582	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	24					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Prostate(682;0.19)					CAGGTGCTGGGCTTCCGGACC	0.667													C	200008793	G	C	200008793	2	2	18	1	0	0	0	0	0	0	0	1	10636	1190	42	5		5	NR5A2	1	200008793	Silent	SNP	G	TCGA-BR-4357-01A-01D-1158-08	9941295	200008793	49241828	24	14040											
SUSD4	55061	broad.mit.edu	37	chr1	223438057	223438057	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagacccatcaagtttaaaTccgggaaagcagcgatagga	11	9	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:223438057T>C	uc001hnx.2	-	4	1273	c.639A>G	c.(637-639)GGA>GGG	p.G213G	SUSD4_uc001hny.3_Silent_p.G213G|SUSD4_uc010puw.1_Silent_p.G53G|SUSD4_uc001hnz.2_Silent_p.G213G|SUSD4_uc010pux.1_Silent_p.G142G	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	sushi domain containing 4 isoform a	213	Sushi 3.|Extracellular (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(131;0.0611)		CAAGTTTAAATCCGGGAAAGC	0.512													C	223438057	T	C	223438057	2	2	18	1	0	0	0	0	0	0	0	1	15407	1422	50	3		3	SUSD4	1	223438057	Silent	SNP	T	TCGA-BR-4357-01A-01D-1158-08	23429264	223438057	25812564	25	14041											
LBR	3930	broad.mit.edu	37	chr1	225594439	225594439	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctgactaaataaaaggcttgGaagctgtaaataaagggaac	10	5	0	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:225594439G>C	uc001hoy.2	-	11	1553	c.1410C>G	c.(1408-1410)TTC>TTG	p.F470L	LBR_uc001hoz.2_Missense_Mutation_p.F470L|LBR_uc001hpa.1_Missense_Mutation_p.F470L	NM_002296	NP_002287	Q14739	LBR_HUMAN	lamin B receptor	470					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			ovary(1)|skin(1)	2	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		AAAAGGCTTGGAAGCTGTAAA	0.398													C	225594439	G	C	225594439	3	2	18	1	0	0	0	0	1	0	0	0	8652	1165	41	5	453	5	LBR	1	225594439	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	2156382	225594439	23656182	26	14042											
OR2T6	254879	broad.mit.edu	37	chr1	248551054	248551054	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atggggtcatgatcttcctgAttaacatagaccctcatctc	7	11	4	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:248551054A>T	uc001iei.1	+	1	145	c.145A>T	c.(145-147)ATT>TTT	p.I49F		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	49	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATCTTCCTGATTAACATAGA	0.473													T	248551054	A	T	248551054	3	4	18	1	0	0	0	0	1	0	0	0	11029	333	12	5	147	5	OR2T6	1	248551054	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	22956615	248551054	699567	27	14043											
OR2T3	343173	broad.mit.edu	37	chr1	248637452	248637452	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctacacctacatgctcccGagttcctaccacacagctga	5	16	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr1:248637452G>A	uc001iel.1	+	1	801	c.801G>A	c.(799-801)CCG>CCA	p.P267P		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACATGCTCCCGAGTTCCTACC	0.547													A	248637452	G	A	248637452	2	1	18	1	0	0	0	0	0	0	0	1	11023	1045	37	1		1	OR2T3	1	248637452	Silent	SNP	G	TCGA-BR-4357-01A-01D-1158-08	86398	248637452	613169	28	14044											
LHCGR	3973	broad.mit.edu	37	chr2	48925758	48925758	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggtttctacttactcttTtgttggcaagtttctaaaag	7	6	3	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr2:48925758T>C	uc002rwu.3	-	9	932	c.862A>G	c.(862-864)AAA>GAA	p.K288E	GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	288	Extracellular (Potential).				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|lung(2)|breast(2)|skin(1)	8		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ACTTACTCTTTTGTTGGCAAG	0.423									Familial_Male-Limited_Precocious_Puberty				C	48925758	T	C	48925758	3	2	18	1	0	0	0	0	1	0	0	0	8762	1850	64	3	1249	3	LHCGR	2	48925758	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08		48925758	194273615	29	14045											
REG1A	5967	broad.mit.edu	37	chr2	79349196	79349196	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtggcctcactgattaAggagagtggcactgatgact	12	8	1	4			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr2:79349196A>C	uc002snz.2	+	4	369	c.266A>C	c.(265-267)AAG>ACG	p.K89T	REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.K89T	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	89	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0						TCACTGATTAAGGAGAGTGGC	0.498													C	79349196	A	C	79349196	3	2	18	1	0	0	0	0	1	0	0	0	13210	72	3	5	276	5	REG1A	2	79349196	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	30423438	79349196	163850177	30	14046											
KDM3A	55818	broad.mit.edu	37	chr2	86669284	86669284	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctgggacgtggagcgcgtCgccgagtggccctggctctc	17	13	1	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr2:86669284C>T	uc002sri.3	+	2	441	c.114C>T	c.(112-114)GTC>GTT	p.V38V	KDM3A_uc010ytj.1_Silent_p.V38V|KDM3A_uc010ytk.1_Silent_p.V38V	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	38					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						TGGAGCGCGTCGCCGAGTGGC	0.642													T	86669284	C	T	86669284	2	4	18	1	0	0	0	0	0	0	0	1	8126	871	31	1		1	KDM3A	2	86669284	Silent	SNP	C	TCGA-BR-4357-01A-01D-1158-08	7320088	86669284	156530089	31	14047											
ZEB2	9839	broad.mit.edu	37	chr2	145157322	145157322	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatttcttcagccttgcAgtccattttttgcctggaaa	7	9	2	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr2:145157322A>C	uc002tvu.2	-	8	1912	c.1432T>G	c.(1432-1434)TGC>GGC	p.C478G	ZEB2_uc002tvv.2_Missense_Mutation_p.C472G|ZEB2_uc010zbm.1_Missense_Mutation_p.C449G|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.C507G	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	478	SMAD-MH2 binding domain (By similarity).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCAGCCTTGCAGTCCATTTTT	0.408													C	145157322	A	C	145157322	3	2	18	1	0	0	0	0	1	0	0	0	17621	188	7	5	2224	5	ZEB2	2	145157322	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	58488038	145157322	98042051	32	14048											
LY75	4065	broad.mit.edu	37	chr2	160708776	160708776	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagaatctgggctgtatTtctctaacgaagaaacatta	8	8	2	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr2:160708776T>G	uc002ubc.3	-	21	2888	c.2819A>C	c.(2818-2820)AAA>ACA	p.K940T	LY75_uc002ubb.3_Missense_Mutation_p.K940T|LY75_uc010fos.2_Missense_Mutation_p.K940T	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	940	Extracellular (Potential).				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		TGGGCTGTATTTCTCTAACGA	0.363													G	160708776	T	G	160708776	3	3	18	1	0	0	0	0	1	0	0	0	9099	1841	64	5	2409	5	LY75	2	160708776	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	15551454	160708776	82490597	33	14049											
XIRP2	129446	broad.mit.edu	37	chr2	168096364	168096364	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgtctgtgtgctttcaGgaggcaattcatagcagcca	11	9	4	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr2:168096364G>T	uc002udx.2	+	5	877	c.859_splice	c.e5-1	p.E287_splice	XIRP2_uc010fpn.2_Splice_Site_p.E320_splice|XIRP2_uc010fpo.2_Splice_Site_p.E287_splice|XIRP2_uc010fpp.2_Splice_Site_p.E287_splice|XIRP2_uc002udy.2_Splice_Site_p.E112_splice|XIRP2_uc010fpq.2_Splice_Site_p.E65_splice|XIRP2_uc010fpr.2_Splice_Site_p.E65_splice	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1						actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TGTGCTTTCAGGAGGCAATTC	0.363													T	168096364	G	T	168096364	5	4	18	1	0	0	0	0	0	0	1	0	17427	1014	35	5	876	5	XIRP2	2	168096364	Splice_Site	SNP	G	TCGA-BR-4357-01A-01D-1158-08	7387588	168096364	75103009	34	14050											
XIRP2	129446	broad.mit.edu	37	chr2	168105231	168105231	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaacgatttttcccccaaAgttgaactggcaacctccct	6	13	0	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr2:168105231A>C	uc002udx.2	+	8	7347	c.7329A>C	c.(7327-7329)AAA>AAC	p.K2443N	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K2268N|XIRP2_uc010fpq.2_Missense_Mutation_p.K2221N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2268					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TTTCCCCCAAAGTTGAACTGG	0.413													C	168105231	A	C	168105231	3	2	18	1	0	0	0	0	1	0	0	0	17427	69	3	5	7359	5	XIRP2	2	168105231	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	8867	168105231	75094142	35	14051											
DHRS9	10170	broad.mit.edu	37	chr2	169938295	169938295	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgaatcaggatcaacagcTttaaaggcagaaacctcaga	8	9	3	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr2:169938295T>C	uc002uep.2	+	5	1708	c.204T>C	c.(202-204)GCT>GCC	p.A68A	DHRS9_uc002ueq.2_Silent_p.A68A|DHRS9_uc010zdc.1_Silent_p.A128A|DHRS9_uc002uer.1_Silent_p.A68A|DHRS9_uc010zdd.1_Silent_p.A68A|DHRS9_uc010zde.1_Silent_p.A68A	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN	NADP-dependent retinol dehydrogenase/reductase	68					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity				0						GATCAACAGCTTTAAAGGCAG	0.478													C	169938295	T	C	169938295	2	2	18	1	0	0	0	0	0	0	0	1	4498	1596	56	3		3	DHRS9	2	169938295	Silent	SNP	T	TCGA-BR-4357-01A-01D-1158-08	1833064	169938295	73261078	36	14052											
TTN	7273	broad.mit.edu	37	chr2	179403391	179403391	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcctattgtgaattgcttGtccttaatacgttccttatt	5	10	0	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr2:179403391G>T	uc010zfg.1	-	303	91685	c.91461C>A	c.(91459-91461)GAC>GAA	p.D30487E	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D24182E|TTN_uc010zfi.1_Missense_Mutation_p.D24115E|TTN_uc010zfj.1_Missense_Mutation_p.D23990E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31414							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAATTGCTTGTCCTTAATAC	0.438													T	179403391	G	T	179403391	3	4	18	1	0	0	0	0	1	0	0	0	16732	1368	48	5	8850	5	TTN	2	179403391	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	9465096	179403391	63795982	37	14053											
TTN	7273	broad.mit.edu	37	chr2	179435132	179435132	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gcggctggtttctctcctttCcacaatataatttatgatgt	7	9	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr2:179435132C>G	uc010zfg.1	-	275	68247	c.68023G>C	c.(68023-68025)GAA>CAA	p.E22675Q	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E16370Q|TTN_uc010zfi.1_Missense_Mutation_p.E16303Q|TTN_uc010zfj.1_Missense_Mutation_p.E16178Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23602							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTCCTTTCCACAATATAA	0.443													G	179435132	C	G	179435132	3	3	18	1	0	0	0	0	1	0	0	0	16732	864	30	5	32400	5	TTN	2	179435132	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	31741	179435132	63764241	38	14054											
TTN	7273	broad.mit.edu	37	chr2	179577811	179577811	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttactgttttgtaaactgaCctctcacagtcaaaggagca	7	9	2	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr2:179577811C>A	uc010zfg.1	-	90	23541	c.23317_splice	c.e90+1	p.E7773_splice	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Splice_Site_p.E4434_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTAAACTGACCTCTCACAGT	0.348													A	179577811	C	A	179577811	5	1	18	1	0	0	0	0	0	0	1	0	16732	521	18	5	77559	5	TTN	2	179577811	Splice_Site	SNP	C	TCGA-BR-4357-01A-01D-1158-08	142679	179577811	63621562	39	14055											
TTN	7273	broad.mit.edu	37	chr2	179578671	179578671	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttgccaacagggttcTgcacctcaaaactgtatacc	7	12	3	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr2:179578671T>G	uc010zfg.1	-	89	23206	c.22982A>C	c.(22981-22983)CAG>CCG	p.Q7661P	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q4322P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8588							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACAGGGTTCTGCACCTCAAA	0.413													G	179578671	T	G	179578671	3	3	18	1	0	0	0	0	1	0	0	0	16732	1580	55	5	77899	5	TTN	2	179578671	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	860	179578671	63620702	40	14056											
ZNF804A	91752	broad.mit.edu	37	chr2	185800895	185800895	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatttgtccccagtgcttgtCatcttcaacaatcttcacca	5	13	5	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr2:185800895C>A	uc002uph.2	+	4	1366	c.772C>A	c.(772-774)CAT>AAT	p.H258N		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	258						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						CAGTGCTTGTCATCTTCAACA	0.433													A	185800895	C	A	185800895	3	1	18	1	0	0	0	0	1	0	0	0	18167	826	29	5	786	5	ZNF804A	2	185800895	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	6222224	185800895	57398478	41	14057											
BARD1	580	broad.mit.edu	37	chr2	215593709	215593709	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccccacaaatagaagtaGcatccatcaaacagctttgg	7	11	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr2:215593709G>A	uc002veu.2	-	11	2160	c.2025C>T	c.(2023-2025)TGC>TGT	p.C675C	BARD1_uc010zjm.1_Missense_Mutation_p.A530V	NM_000465	NP_000456	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	675	BRCT 2.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AATAGAAGTAGCATCCATCAA	0.403									Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				A	215593709	G	A	215593709	2	1	18	1	0	0	0	0	0	0	0	1	1312	963	34	2		2	BARD1	2	215593709	Silent	SNP	G	TCGA-BR-4357-01A-01D-1158-08	29792814	215593709	27605664	42	14058											
CXCR1	3577	broad.mit.edu	37	chr2	219029003	219029003	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaatccatggcgaaaaTtttggccgatgaaggcgtag	14	6	0	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr2:219029003T>G	uc002vhc.2	-	2	1051	c.932A>C	c.(931-933)AAT>ACT	p.N311T		NM_000634	NP_000625	P25024	CXCR1_HUMAN	interleukin 8 receptor alpha	311	Cytoplasmic (Potential).				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			lung(2)	2						ATGGCGAAAATTTTGGCCGAT	0.542													G	219029003	T	G	219029003	3	3	18	1	0	0	0	0	1	0	0	0	4090	1493	52	5	124	5	CXCR1	2	219029003	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	3435294	219029003	24170370	43	14059											
PAX3	5077	broad.mit.edu	37	chr2	223066852	223066852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggtgagaggggagagcgCgtaatcagtctggggctgat	18	8	2	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr2:223066852C>T	uc010fwo.2	-	8	1597	c.1231G>A	c.(1231-1233)GCG>ACG	p.A411T	PAX3_uc002vmt.1_Missense_Mutation_p.A411T|PAX3_uc002vmy.1_Missense_Mutation_p.A410T|PAX3_uc002vmv.1_Missense_Mutation_p.A411T|PAX3_uc002vmw.1_Intron|PAX3_uc002vmx.1_Intron	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	411					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGAGAGCGCGTAATCAGTC	0.547			T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						T	223066852	C	T	223066852	3	4	18	1	0	0	0	0	1	0	0	0	11480	768	27	1	326	1	PAX3	2	223066852	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	4037849	223066852	20132521	44	14060											
PID1	55022	broad.mit.edu	37	chr2	229890734	229890734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacatcctctcgggctagcgTgtgcttcttccagagctcaa	10	13	3	1	rs138008399	byFrequency	TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr2:229890734T>C	uc002vpr.3	-	3	405	c.367A>G	c.(367-369)ACG>GCG	p.T123A	PID1_uc002vps.3_Missense_Mutation_p.T121A|PID1_uc002vpt.3_Missense_Mutation_p.T90A|PID1_uc002vpu.3_Missense_Mutation_p.T41A	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	123	PID.					cytoplasm				breast(3)|skin(1)	4		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CGGGCTAGCGTGTGCTTCTTC	0.547													C	229890734	T	C	229890734	3	2	18	1	0	0	0	0	1	0	0	0	11882	1696	59	3	389	3	PID1	2	229890734	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	6823882	229890734	13308639	45	14061											
RBM44	375316	broad.mit.edu	37	chr2	238725997	238725997	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaagaggaggtttttttTaatattttggaacatcaaga	8	2	1	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr2:238725997T>A	uc002vxi.3	+	3	570	c.438T>A	c.(436-438)TTT>TTA	p.F146L		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	145							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGGTTTTTTTTAATATTTTGG	0.318													A	238725997	T	A	238725997	3	1	18	1	0	0	0	0	1	0	0	0	13138	1751	61	5	444	5	RBM44	2	238725997	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	8835263	238725997	4473376	46	14062											
PER2	8864	broad.mit.edu	37	chr2	239176732	239176732	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactctctctgccagcagaAggcagcaaagctgactctca	9	14	3	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr2:239176732A>C	uc002vyc.2	-	8	1169	c.932T>G	c.(931-933)CTT>CGT	p.L311R	PER2_uc010znv.1_Missense_Mutation_p.L311R|PER2_uc010znw.1_Missense_Mutation_p.L311R|PER2_uc010fyx.1_Missense_Mutation_p.L311R	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	311					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGCCAGCAGAAGGCAGCAAAG	0.567													C	239176732	A	C	239176732	3	2	18	1	0	0	0	0	1	0	0	0	11730	72	3	5	2899	5	PER2	2	239176732	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	450735	239176732	4022641	47	14063											
SCN5A	6331	broad.mit.edu	37	chr3	38597190	38597190	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcttcttggagcccagcTtcttcatggcattgtagtac	12	10	3	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr3:38597190T>G	uc003cio.2	-	26	4693	c.4499A>C	c.(4498-4500)AAG>ACG	p.K1500T	SCN5A_uc003cin.2_Missense_Mutation_p.K1499T|SCN5A_uc003cil.3_Missense_Mutation_p.K1500T|SCN5A_uc010hhi.2_Missense_Mutation_p.K1482T|SCN5A_uc010hhk.2_Missense_Mutation_p.K1499T|SCN5A_uc011ayr.1_Missense_Mutation_p.K1446T	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1500			K -> N.|Missing (in BRS1).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGAGCCCAGCTTCTTCATGGC	0.567													G	38597190	T	G	38597190	3	3	18	1	0	0	0	0	1	0	0	0	13922	1609	56	5	1563	5	SCN5A	3	38597190	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08		38597190	159425240	48	14064											
CELSR3	1951	broad.mit.edu	37	chr3	48697355	48697355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgagtctgcatcaatgcGgaactggggcaggttgtcct	13	10	2	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr3:48697355G>A	uc003cul.2	-	1	2994	c.2713C>T	c.(2713-2715)CGC>TGC	p.R905C	CELSR3_uc003cuf.1_Missense_Mutation_p.R975C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	905	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCATCAATGCGGAACTGGGGC	0.423													A	48697355	G	A	48697355	3	1	18	1	0	0	0	0	1	0	0	0	3223	1116	39	1	7365	1	CELSR3	3	48697355	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	10100165	48697355	149325075	49	14065											
CAMKV	79012	broad.mit.edu	37	chr3	49897278	49897278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggactgctctggtgcccGgagccgtttcatgagggtgg	17	10	2	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr3:49897278G>A	uc003cxt.1	-	11	1172	c.979C>T	c.(979-981)CGG>TGG	p.R327W	CAMKV_uc011bcy.1_Missense_Mutation_p.R252W|CAMKV_uc003cxv.1_Missense_Mutation_p.R299W|CAMKV_uc003cxw.1_Missense_Mutation_p.R159W|CAMKV_uc003cxx.1_Missense_Mutation_p.R159W|CAMKV_uc003cxu.2_Missense_Mutation_p.R327W|CAMKV_uc011bcz.1_Missense_Mutation_p.R290W|CAMKV_uc011bda.1_Missense_Mutation_p.R284W	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	327						cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCTGGTGCCCGGAGCCGTTTC	0.637													A	49897278	G	A	49897278	3	1	18	1	0	0	0	0	1	0	0	0	2608	1115	39	1	530	1	CAMKV	3	49897278	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	1199923	49897278	148125152	50	14066											
SEMA3B	7869	broad.mit.edu	37	chr3	50311057	50311057	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcccggcgtcgagggcgAcacccacttcgatcagctcc	13	16	1	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr3:50311057A>G	uc003cyu.2	+	10	1144	c.902A>G	c.(901-903)GAC>GGC	p.D301G	SEMA3B_uc003cyt.2_Missense_Mutation_p.D301G|SEMA3B_uc003cyv.2_Missense_Mutation_p.D188G|SEMA3B_uc003cyw.2_5'UTR|SEMA3B_uc010hli.2_Missense_Mutation_p.D188G|SEMA3B_uc003cyx.2_Missense_Mutation_p.D188G|SEMA3B_uc003cyy.2_5'UTR|SEMA3B_uc011bdo.1_5'UTR	NM_004636	NP_004627	Q13214	SEM3B_HUMAN	semaphorin 3B isoform 1 precursor	301	Sema.				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			lung(2)|central_nervous_system(2)|kidney(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTCGAGGGCGACACCCACTTC	0.716											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	50311057	A	G	50311057	3	3	18	1	0	0	0	0	1	0	0	0	14025	275	10	3	931	3	SEMA3B	3	50311057	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	413779	50311057	147711373	51	14067											
PXK	54899	broad.mit.edu	37	chr3	58376310	58376310	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttctaaaatgtctttgcagaGattgccttgcaacaggtttc	8	8	2	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr3:58376310G>T	uc003djz.1	+	5	489	c.390G>T	c.(388-390)GAG>GAT	p.E130D	PXK_uc003djx.1_Missense_Mutation_p.E130D|PXK_uc003djy.1_Missense_Mutation_p.E113D|PXK_uc003dka.1_Missense_Mutation_p.E130D|PXK_uc003dkb.1_Missense_Mutation_p.E47D|PXK_uc003dkc.1_Missense_Mutation_p.E113D|PXK_uc011bfe.1_Missense_Mutation_p.E97D|PXK_uc010hnj.1_Missense_Mutation_p.E97D|PXK_uc003dkd.1_5'UTR|PXK_uc010hnk.1_Intron	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	130	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		TCTTTGCAGAGATTGCCTTGC	0.413													T	58376310	G	T	58376310	3	4	18	1	0	0	0	0	1	0	0	0	12849	956	33	5	408	5	PXK	3	58376310	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	8065253	58376310	139646120	52	14068											
ROBO2	6092	broad.mit.edu	37	chr3	77657104	77657104	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtggaacaacaagaaaatGggtaaagatattttatatac	8	4	0	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr3:77657104G>T	uc003dpy.3	+	21	3935	c.3292G>T	c.(3292-3294)GGC>TGC	p.G1098C	ROBO2_uc003dpz.2_Missense_Mutation_p.G1102C|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.G1102C|ROBO2_uc003dqa.2_Missense_Mutation_p.G225C	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1098	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACAAGAAAATGGGTAAAGATA	0.478													T	77657104	G	T	77657104	3	4	18	1	0	0	0	0	1	0	0	0	13514	1362	47	5	3376	5	ROBO2	3	77657104	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	19280794	77657104	120365326	53	14069											
PARP14	54625	broad.mit.edu	37	chr3	122422676	122422676	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcttggaaaaagctggaccaGagctccaggaggaattggac	13	8	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr3:122422676G>C	uc003efq.3	+	7	3228	c.3169G>C	c.(3169-3171)GAG>CAG	p.E1057Q	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.E774Q|PARP14_uc003efs.1_Missense_Mutation_p.E774Q	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1057	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		AGCTGGACCAGAGCTCCAGGA	0.507													C	122422676	G	C	122422676	3	2	18	1	0	0	0	0	1	0	0	0	11458	943	33	5	3195	5	PARP14	3	122422676	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	44765572	122422676	75599754	54	14070											
TMEM22	80723	broad.mit.edu	37	chr3	136573735	136573735	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttatccgttctgtttttcagGtcttatctgtgttagttgtg	9	6	4	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr3:136573735G>T	uc003erf.3	+	2	647	c.433G>T	c.(433-435)GTC>TTC	p.V145F	TMEM22_uc003erg.3_Missense_Mutation_p.V145F|TMEM22_uc010hub.2_Missense_Mutation_p.V145F	NM_001097600	NP_001091069	Q8TBE7	TMM22_HUMAN	transmembrane protein 22	145	DUF6 1.|Helical; (Potential).					Golgi apparatus|integral to membrane				ovary(1)	1						TGTTTTTCAGGTCTTATCTGT	0.413													T	136573735	G	T	136573735	3	4	18	1	0	0	0	0	1	0	0	0	16140	1261	44	5	435	5	TMEM22	3	136573735	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	14151059	136573735	61448695	55	14071											
PRR23B	389151	broad.mit.edu	37	chr3	138739163	138739163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcagacgagtcgtgctgcGctcctgagcgttcgtcgacg	15	13	0	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr3:138739163G>A	uc003esy.1	-	1	606	c.341C>T	c.(340-342)GCG>GTG	p.A114V		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	proline rich 23B	114										breast(1)	1						GTCGTGCTGCGCTCCTGAGCG	0.632													A	138739163	G	A	138739163	3	1	18	1	0	0	0	0	1	0	0	0	12595	1087	38	1	460	1	PRR23B	3	138739163	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	2165428	138739163	59283267	56	14072											
XRN1	54464	broad.mit.edu	37	chr3	142102207	142102207	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acttctcagaggaaacaaatCatccaatgttttgatattgg	7	7	2	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr3:142102207C>T	uc003eus.2	-	22	2618	c.2551G>A	c.(2551-2553)GAT>AAT	p.D851N	XRN1_uc010huu.2_Missense_Mutation_p.D317N|XRN1_uc003eut.2_Missense_Mutation_p.D851N|XRN1_uc003euu.2_Missense_Mutation_p.D851N|XRN1_uc003euv.1_Missense_Mutation_p.D712N	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	851					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						GGAAACAAATCATCCAATGTT	0.348													T	142102207	C	T	142102207	3	4	18	1	0	0	0	0	1	0	0	0	17456	826	29	4	2653	4	XRN1	3	142102207	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	3363044	142102207	55920223	57	14073											
AHSG	197	broad.mit.edu	37	chr3	186335007	186335007	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgcgcaaggtgtgccaAgactgccccctgctggcccc	13	16	0	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr3:186335007A>G	uc003fqk.3	+	4	522	c.441A>G	c.(439-441)CAA>CAG	p.Q147Q	AHSG_uc003fqj.2_Silent_p.Q147Q|AHSG_uc003fql.3_Silent_p.Q148Q|AHSG_uc003fqm.3_Silent_p.Q146Q|AHSG_uc010hyp.2_Silent_p.Q110Q	NM_001622	NP_001613	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	147	Cystatin fetuin-A-type 2.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding				0	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		AGGTGTGCCAAGACTGCCCCC	0.637											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	186335007	A	G	186335007	2	3	18	1	0	0	0	0	0	0	0	1	420	69	3	3		3	AHSG	3	186335007	Silent	SNP	A	TCGA-BR-4357-01A-01D-1158-08	44232800	186335007	11687423	58	14074											
STK32B	55351	broad.mit.edu	37	chr4	5468493	5468493	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgattctagaatccaagccaCttcacaaaaagaagaagcga	7	9	2	4			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr4:5468493C>A	uc003gih.1	+	10	1037	c.973C>A	c.(973-975)CTT>ATT	p.L325I	STK32B_uc010ida.1_Missense_Mutation_p.L278I	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	325							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						ATCCAAGCCACTTCACAAAAA	0.498													A	5468493	C	A	5468493	3	1	18	1	0	0	0	0	1	0	0	0	15297	565	20	5	1011	5	STK32B	4	5468493	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08		5468493	185685783	59	14075											
RFC1	5981	broad.mit.edu	37	chr4	39343980	39343984	+	Frame_Shift_Del	DEL	ATGTA	ATGTA	-													cttacctgtttctgaaatgtAtgtaacaggatcctgccgtg					rs140182474		TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr4:39343979_39343983TATGTA>T	uc003gty.2	-	3	453_457	c.313_317TACATA>A	c.(313-318)acatacfs	p.T105fs	RFC1_uc003gtx.2_Frame_Shift_Del_p.T105fs|RFC1_uc003gtz.2_5'UTR	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	105					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTCTGAAATGTATGTAACAGGATCC	0.4													-	39343984	ATGTA	-	39343980	7	5	18	1	0	1	0	1	0	0	0	0	13244	449	16	0	3215	0	RFC1	4	39343980	Frame_Shift_Del	DEL	ATGTA	TCGA-BR-4357-01A-01D-1158-08	33875487	39343980	151810296	60	14076											
COX18	285521	broad.mit.edu	37	chr4	73927606	73927606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtaatatacgtctgaaaaCgagacattccaattttttgt	6	7	1	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr4:73927606C>T	uc003hgm.1	-	5	858	c.752G>A	c.(751-753)CGT>CAT	p.R251H	COX18_uc003hgn.1_Missense_Mutation_p.R100H|COX18_uc011cbc.1_Missense_Mutation_p.R252H|COX18_uc010iih.1_Missense_Mutation_p.R251H	NM_173827	NP_776188	Q8N8Q8	COX18_HUMAN	mitochondrial COX18 precursor	251					protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity				0	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CGTCTGAAAACGAGACATTCC	0.368													T	73927606	C	T	73927606	3	4	18	1	0	0	0	0	1	0	0	0	3767	536	19	1	257	1	COX18	4	73927606	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	34583626	73927606	117226670	61	14077											
UNC5C	8633	broad.mit.edu	37	chr4	96091445	96091445	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaccgtggtgatggtgttCgcaggatccagcagcggcaa	16	9	0	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr4:96091445C>T	uc003htp.1	-	15	2644	c.2490G>A	c.(2488-2490)GCG>GCA	p.A830A	uc003hto.2_5'Flank	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	830	Cytoplasmic (Potential).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGATGGTGTTCGCAGGATCCA	0.552													T	96091445	C	T	96091445	2	4	18	1	0	0	0	0	0	0	0	1	16990	871	31	1		1	UNC5C	4	96091445	Silent	SNP	C	TCGA-BR-4357-01A-01D-1158-08	22163839	96091445	95062831	62	14078											
C4orf21	55345	broad.mit.edu	37	chr4	113539455	113539455	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaccctcaatctcttcAcagtttgtattctcagacct	4	13	5	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr4:113539455A>G	uc003iau.2	-	6	1954	c.1743T>C	c.(1741-1743)TGT>TGC	p.C581C	C4orf21_uc003iaw.2_Silent_p.C581C	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CAATCTCTTCACAGTTTGTAT	0.378													G	113539455	A	G	113539455	2	3	18	1	0	0	0	0	0	0	0	1	2254	157	6	3		3	C4orf21	4	113539455	Silent	SNP	A	TCGA-BR-4357-01A-01D-1158-08	17448010	113539455	77614821	63	14079											
LRBA	987	broad.mit.edu	37	chr4	151836777	151836777	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacatcgctagtgttgacaaAccatgttatctctccatagg	7	10	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr4:151836777A>C	uc010ipj.2	-	8	1471	c.997T>G	c.(997-999)TTT>GTT	p.F333V	LRBA_uc003ilu.3_Missense_Mutation_p.F333V|LRBA_uc010ipk.1_Missense_Mutation_p.F252V	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	333						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					GTGTTGACAAACCATGTTATC	0.338													C	151836777	A	C	151836777	3	2	18	1	0	0	0	0	1	0	0	0	8931	43	2	5	7798	5	LRBA	4	151836777	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	38297322	151836777	39317499	64	14080											
FGB	2244	broad.mit.edu	37	chr4	155487704	155487704	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaacaggaaaggccaatcAgaaatagtgttgatgagtta	10	5	1	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr4:155487704A>G	uc003ioa.3	+	3	409	c.370A>G	c.(370-372)AGA>GGA	p.R124G	FGB_uc010ipu.1_RNA|FGB_uc003iob.3_Missense_Mutation_p.R121G|FGB_uc010ipv.2_Missense_Mutation_p.R62G|FGB_uc010ipw.2_Missense_Mutation_p.R121G|FGB_uc003ioc.3_Intron	NM_005141	NP_005132	P02675	FIBB_HUMAN	fibrinogen, beta chain preproprotein	124					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AAGGCCAATCAGAAATAGTGT	0.413													G	155487704	A	G	155487704	3	3	18	1	0	0	0	0	1	0	0	0	5831	180	7	3	380	3	FGB	4	155487704	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	3650927	155487704	35666572	65	14081											
FNIP2	57600	broad.mit.edu	37	chr4	159825674	159825674	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgccagtactcattctccttAtgtggctcaaatactcttat	5	11	4	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr4:159825674A>T	uc003iqe.3	+	17	3506	c.3323A>T	c.(3322-3324)TAT>TTT	p.Y1108F	C4orf45_uc003iqf.1_Intron|C4orf45_uc010iqt.1_Intron	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	1108					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CATTCTCCTTATGTGGCTCAA	0.368													T	159825674	A	T	159825674	3	4	18	1	0	0	0	0	1	0	0	0	5976	449	16	5	3389	5	FNIP2	4	159825674	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	4337970	159825674	31328602	66	14082											
FSTL5	56884	broad.mit.edu	37	chr4	162307171	162307171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttgtgtgcttgaactacCgtagatgttatattggtggg	13	4	0	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr4:162307171C>T	uc003iqh.2	-	16	2708	c.2272G>A	c.(2272-2274)GGT>AGT	p.G758S	FSTL5_uc003iqi.2_Missense_Mutation_p.G757S|FSTL5_uc010iqv.2_Missense_Mutation_p.G748S|uc010iqu.1_RNA	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	758						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTTGAACTACCGTAGATGTTA	0.418													T	162307171	C	T	162307171	3	4	18	1	0	0	0	0	1	0	0	0	6080	652	23	1	275	1	FSTL5	4	162307171	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	2481497	162307171	28847105	67	14083											
UFSP2	55325	broad.mit.edu	37	chr4	186336377	186336377	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aattgttacaagatttttttTccctggtaataaaaagtgca	6	5	0	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr4:186336377T>A	uc003ixo.2	-	6	733	c.616A>T	c.(616-618)AAA>TAA	p.K206*	UFSP2_uc003ixn.2_Nonsense_Mutation_p.K96*|UFSP2_uc003ixq.2_Nonsense_Mutation_p.K96*|UFSP2_uc003ixp.2_RNA	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	206						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		AGATTTTTTTTCCCTGGTAAT	0.343													A	186336377	T	A	186336377	4	1	18	1	0	0	0	0	0	1	0	0	16935	1792	62	5	821	5	UFSP2	4	186336377	Nonsense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	24029206	186336377	4817899	68	14084											
PDLIM3	27295	broad.mit.edu	37	chr4	186423589	186423589	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggttgcagtcggcacacacGaagcactcagggtgccggta	14	11	1	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr4:186423589G>A	uc003ixw.3	-	8	1078	c.954C>T	c.(952-954)TTC>TTT	p.F318F	PDLIM3_uc003ixx.3_Silent_p.F270F|PDLIM3_uc010isi.2_RNA	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain protein 3 isoform a	318	LIM zinc-binding.					sarcomere	zinc ion binding			ovary(2)	2		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CGGCACACACGAAGCACTCAG	0.532													A	186423589	G	A	186423589	2	1	18	1	0	0	0	0	0	0	0	1	11681	1049	37	1		1	PDLIM3	4	186423589	Silent	SNP	G	TCGA-BR-4357-01A-01D-1158-08	87212	186423589	4730687	69	14085											
ADCY2	108	broad.mit.edu	37	chr5	7707834	7707834	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagacgtgttcacatttcTtctgtcaccctggagcactt	7	12	5	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr5:7707834T>C	uc003jdz.1	+	9	1351	c.1284T>C	c.(1282-1284)TCT>TCC	p.S428S	ADCY2_uc011cmo.1_Silent_p.S248S	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	428	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						TTCACATTTCTTCTGTCACCC	0.388													C	7707834	T	C	7707834	2	2	18	1	0	0	0	0	0	0	0	1	294	1596	56	3		3	ADCY2	5	7707834	Silent	SNP	T	TCGA-BR-4357-01A-01D-1158-08		7707834	173207426	70	14086											
SEMA5A	9037	broad.mit.edu	37	chr5	9066581	9066581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctagaacagtaccgcatttCgattctctgtcttcccactt	6	13	2	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr5:9066581C>T	uc003jek.2	-	17	2963	c.2251G>A	c.(2251-2253)GAA>AAA	p.E751K		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	751	TSP type-1 4.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						TACCGCATTTCGATTCTCTGT	0.542													T	9066581	C	T	9066581	3	4	18	1	0	0	0	0	1	0	0	0	14037	893	31	1	1001	1	SEMA5A	5	9066581	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	1358747	9066581	171848679	71	14087											
DNAH5	1767	broad.mit.edu	37	chr5	13708305	13708305	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagattttcgctcatgatgAtggtgccatcaatagcaagt	10	8	2	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr5:13708305A>G	uc003jfd.2	-	76	13307	c.13265T>C	c.(13264-13266)ATC>ACC	p.I4422T	DNAH5_uc003jfc.2_Missense_Mutation_p.I590T	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4422					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)					GCTCATGATGATGGTGCCATC	0.453									Kartagener_syndrome				G	13708305	A	G	13708305	3	3	18	1	0	0	0	0	1	0	0	0	4604	333	12	3	625	3	DNAH5	5	13708305	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	4641724	13708305	167206955	72	14088											
FBXL7	23194	broad.mit.edu	37	chr5	15936809	15936809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctccatcaaggagctgagCgtcagcgactgccgcttcgt	12	14	2	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr5:15936809C>T	uc003jfn.1	+	4	1471	c.990C>T	c.(988-990)AGC>AGT	p.S330S		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	330	LRR 6.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						AGGAGCTGAGCGTCAGCGACT	0.677													T	15936809	C	T	15936809	2	4	18	1	0	0	0	0	0	0	0	1	5724	767	27	1		1	FBXL7	5	15936809	Silent	SNP	C	TCGA-BR-4357-01A-01D-1158-08	2228504	15936809	164978451	73	14089											
C5orf23	79614	broad.mit.edu	37	chr5	32789806	32789806	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcatcactttccttttagTtatggctgattttgggtgtg	10	6	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr5:32789806T>G	uc003jhw.1	+	1	862	c.299T>G	c.(298-300)GTT>GGT	p.V100G		NM_024563	NP_078839			hypothetical protein LOC79614												0						TTCCTTTTAGTTATGGCTGAT	0.413													G	32789806	T	G	32789806	3	3	18	1	0	0	0	0	1	0	0	0	2286	1725	60	5	301	5	C5orf23	5	32789806	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	16852997	32789806	148125454	74	14090											
AGXT2	64902	broad.mit.edu	37	chr5	34998853	34998853	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttctttccatgtgttgggTtaaggcagaacgaaatactt	9	7	2	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr5:34998853T>G	uc003jjf.2	-	14	1595	c.1516A>C	c.(1516-1518)ACC>CCC	p.T506P	AGXT2_uc003jje.1_Missense_Mutation_p.T159P|AGXT2_uc011com.1_Missense_Mutation_p.T431P	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	alanine-glyoxylate aminotransferase 2 precursor	506					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(3)|skin(1)	4	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	ATGTGTTGGGTTAAGGCAGAA	0.378													G	34998853	T	G	34998853	3	3	18	1	0	0	0	0	1	0	0	0	405	1725	60	5	32	5	AGXT2	5	34998853	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	2209047	34998853	145916407	75	14091											
AGXT2	64902	broad.mit.edu	37	chr5	35035336	35035336	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgattacctgaaagaaAtgatgtctatgttgtttgag	11	3	1	5			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr5:35035336A>T	uc003jjf.2	-	5	651	c.572T>A	c.(571-573)ATT>AAT	p.I191N	AGXT2_uc011com.1_Missense_Mutation_p.I191N|AGXT2_uc011con.1_Missense_Mutation_p.I99N	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	alanine-glyoxylate aminotransferase 2 precursor	191					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(3)|skin(1)	4	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	CCTGAAAGAAATGATGTCTAT	0.448													T	35035336	A	T	35035336	3	4	18	1	0	0	0	0	1	0	0	0	405	101	4	5	1012	5	AGXT2	5	35035336	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	36483	35035336	145879924	76	14092											
IL7R	3575	broad.mit.edu	37	chr5	35861002	35861002	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctactcattctcatgctataGccagttggaagtgaatggat	9	8	2	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr5:35861002G>T	uc003jjs.2	+	2	220	c.131G>T	c.(130-132)AGC>ATC	p.S44I	IL7R_uc011coo.1_Missense_Mutation_p.S44I|IL7R_uc011cop.1_RNA	NM_002185	NP_002176	P16871	IL7RA_HUMAN	interleukin 7 receptor precursor	44	Extracellular (Potential).				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			ovary(3)|breast(1)|skin(1)	5	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TCATGCTATAGCCAGTTGGAA	0.438													T	35861002	G	T	35861002	3	4	18	1	0	0	0	0	1	0	0	0	7705	971	34	5	137	5	IL7R	5	35861002	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	825666	35861002	145054258	77	14093											
NIPBL	25836	broad.mit.edu	37	chr5	36984938	36984938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcaggcaggaagagtggaCtctcaggcttctataactca	10	10	4	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr5:36984938C>T	uc003jkl.3	+	10	2155	c.1656C>T	c.(1654-1656)GAC>GAT	p.D552D	NIPBL_uc003jkk.3_Silent_p.D552D|NIPBL_uc003jkm.1_Silent_p.D431D	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	552					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAAGAGTGGACTCTCAGGCTT	0.433													T	36984938	C	T	36984938	2	4	18	1	0	0	0	0	0	0	0	1	10428	564	20	4		4	NIPBL	5	36984938	Silent	SNP	C	TCGA-BR-4357-01A-01D-1158-08	1123936	36984938	143930322	78	14094											
VCAN	1462	broad.mit.edu	37	chr5	82816513	82816513	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catggtactttaagtgttgaAgcagccactgtatcaaaatg	9	7	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr5:82816513A>T	uc003kii.3	+	7	2744	c.2388A>T	c.(2386-2388)GAA>GAT	p.E796D	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.E796D|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	796	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TAAGTGTTGAAGCAGCCACTG	0.403													T	82816513	A	T	82816513	3	4	18	1	0	0	0	0	1	0	0	0	17135	69	3	5	2410	5	VCAN	5	82816513	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	45831575	82816513	98098747	79	14095											
MCTP1	79772	broad.mit.edu	37	chr5	94114844	94114844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgtcatcttcttcttcctCgtcctctagcatgtcctcca	4	15	5	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr5:94114844C>T	uc003kkx.2	-	19	2581	c.2581G>A	c.(2581-2583)GAG>AAG	p.E861K	MCTP1_uc003kkv.2_Missense_Mutation_p.E640K|MCTP1_uc003kkw.2_Missense_Mutation_p.E554K|MCTP1_uc003kku.2_Missense_Mutation_p.E377K	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	861					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCTTCTTCCTCGTCCTCTAGC	0.423													T	94114844	C	T	94114844	3	4	18	1	0	0	0	0	1	0	0	0	9400	893	31	1	438	1	MCTP1	5	94114844	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	11298331	94114844	86800416	80	14096											
DMXL1	1657	broad.mit.edu	37	chr5	118484729	118484729	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgcatctaatagtagAtcttcccaggactttgtgat	8	10	2	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr5:118484729A>G	uc003ksd.2	+	18	3388	c.3207A>G	c.(3205-3207)AGA>AGG	p.R1069R	DMXL1_uc010jcl.1_Silent_p.R1069R	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1069										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CTAATAGTAGATCTTCCCAGG	0.398													G	118484729	A	G	118484729	2	3	18	1	0	0	0	0	0	0	0	1	4594	330	12	3		3	DMXL1	5	118484729	Silent	SNP	A	TCGA-BR-4357-01A-01D-1158-08	24369885	118484729	62430531	81	14097											
FTMT	94033	broad.mit.edu	37	chr5	121188128	121188128	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacgactgggaaagcgggcTgcatgccatggagtgtgctc	17	9	0	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr5:121188128T>G	uc003kss.2	+	1	479	c.470T>G	c.(469-471)CTG>CGG	p.L157R		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial precursor	157	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			ovary(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GAAAGCGGGCTGCATGCCATG	0.572													G	121188128	T	G	121188128	3	3	18	1	0	0	0	0	1	0	0	0	6085	1580	55	5	472	5	FTMT	5	121188128	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	2703399	121188128	59727132	82	14098											
FBN2	2201	broad.mit.edu	37	chr5	127607789	127607789	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agccgtgttggcacctgtggTtcccatcacattcatcaaca	8	13	3	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr5:127607789T>G	uc003kuu.2	-	62	8301	c.7862A>C	c.(7861-7863)AAC>ACC	p.N2621T		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2621	EGF-like 45; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCACCTGTGGTTCCCATCACA	0.498													G	127607789	T	G	127607789	3	3	18	1	0	0	0	0	1	0	0	0	5703	1725	60	5	892	5	FBN2	5	127607789	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	6419661	127607789	53307471	83	14099											
PCDHA6	56142	broad.mit.edu	37	chr5	140209209	140209209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagctacatttcggtgcaCgcggagagcggcaaggtgta	15	9	0	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr5:140209209C>T	uc003lho.2	+	1	1560	c.1533C>T	c.(1531-1533)CAC>CAT	p.H511H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.H511H|PCDHA6_uc011dab.1_Silent_p.H511H	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	511	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCGGTGCACGCGGAGAGCG	0.701													T	140209209	C	T	140209209	2	4	18	1	0	0	0	0	0	0	0	1	11528	535	19	1		1	PCDHA6	5	140209209	Silent	SNP	C	TCGA-BR-4357-01A-01D-1158-08	12601420	140209209	40706051	84	14100											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308755	140308755	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cttatctctatcgggcctctCtgggacttggttctgataat	9	10	3	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr5:140308755C>G	uc003lih.2	+	1	2454	c.2278C>G	c.(2278-2280)CTG>GTG	p.L760V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.L760V	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	760	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGGCCTCTCTGGGACTTGG	0.463													G	140308755	C	G	140308755	3	3	18	1	0	0	0	0	1	0	0	0	11532	912	32	5	2280	5	PCDHAC1	5	140308755	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	99546	140308755	40606505	85	14101											
PCDHGA4	56111	broad.mit.edu	37	chr5	140734941	140734941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggttggcgccccgggaGctggcggagcgcggagtccg	21	12	0	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr5:140734941G>A	uc003ljq.1	+	1	174	c.174G>A	c.(172-174)GAG>GAA	p.E58E	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.E58E	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	58	Cadherin 1.|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)			CGCCCCGGGAGCTGGCGGAGC	0.627													A	140734941	G	A	140734941	2	1	18	1	0	0	0	0	0	0	0	1	11556	962	34	2		2	PCDHGA4	5	140734941	Silent	SNP	G	TCGA-BR-4357-01A-01D-1158-08	426186	140734941	40180319	86	14102											
PCDHGB3	56102	broad.mit.edu	37	chr5	140752271	140752271	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtttaaatttctcaatatAaaggctgaaaatgctgcacc	7	7	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr5:140752271A>C	uc003ljw.1	+	1	2310	c.2310A>C	c.(2308-2310)ATA>ATC	p.I770I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Silent_p.I770I|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	770	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTCAATATAAAGGCTGAAA	0.423													C	140752271	A	C	140752271	2	2	18	1	0	0	0	0	0	0	0	1	11564	352	13	5		5	PCDHGB3	5	140752271	Silent	SNP	A	TCGA-BR-4357-01A-01D-1158-08	17330	140752271	40162989	87	14103											
LARS	51520	broad.mit.edu	37	chr5	145529216	145529216	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttttctgaatagtcttcTttacatcttgaaccttctgt	4	9	6	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr5:145529216T>C	uc003lnx.1	-	15	1710	c.1472A>G	c.(1471-1473)AAG>AGG	p.K491R	LARS_uc011dbq.1_Missense_Mutation_p.K445R|LARS_uc011dbr.1_Missense_Mutation_p.K437R|LARS_uc011dbs.1_Missense_Mutation_p.K464R	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	491	Editing domain.				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	AATAGTCTTCTTTACATCTTG	0.373													C	145529216	T	C	145529216	3	2	18	1	0	0	0	0	1	0	0	0	8634	1609	56	3	2130	3	LARS	5	145529216	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	4776945	145529216	35386044	88	14104											
TCERG1	10915	broad.mit.edu	37	chr5	145859463	145859463	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gatccaaaagtggcaattctCtatgagtgcaagtgagtgaa	11	6	1	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr5:145859463C>G	uc003lob.2	+	11	1848	c.1808C>G	c.(1807-1809)TCT>TGT	p.S603C	TCERG1_uc003loc.2_Missense_Mutation_p.S582C|TCERG1_uc011dbt.1_Missense_Mutation_p.S582C	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	603					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCAATTCTCTATGAGTGCA	0.363													G	145859463	C	G	145859463	3	3	18	1	0	0	0	0	1	0	0	0	15682	913	32	5	1850	5	TCERG1	5	145859463	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	330247	145859463	35055797	89	14105											
TTC1	7265	broad.mit.edu	37	chr5	159478161	159478161	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctaagcaaattgaagaacGtaatgaaagactaaaagaag	8	5	0	5			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr5:159478161G>T	uc003lxu.2	+	7	766	c.716G>T	c.(715-717)CGT>CTT	p.R239L		NM_003314	NP_003305	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	239					protein folding		unfolded protein binding			skin(1)	1	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		ATTGAAGAACGTAATGAAAGA	0.348													T	159478161	G	T	159478161	3	4	18	1	0	0	0	0	1	0	0	0	16675	1145	40	5	738	5	TTC1	5	159478161	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	13618698	159478161	21437099	90	14106											
MAML1	9794	broad.mit.edu	37	chr5	179193287	179193287	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccggcaccagccccgggcCagatgtccacatggcagcag	12	18	0	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr5:179193287C>A	uc003mkm.2	+	2	1539	c.1276C>A	c.(1276-1278)CAG>AAG	p.Q426K	MAML1_uc003mkn.1_Missense_Mutation_p.Q426K	NM_014757	NP_055572	Q92585	MAML1_HUMAN	mastermind-like 1	426					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			lung(4)|ovary(2)	6	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCCCCGGGCCAGATGTCCAC	0.632													A	179193287	C	A	179193287	3	1	18	1	0	0	0	0	1	0	0	0	9205	595	21	5	1282	5	MAML1	5	179193287	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	19715126	179193287	1721973	91	14107											
BTNL9	153579	broad.mit.edu	37	chr5	180477150	180477150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaggcattcagctgaggCtcagatccagtggctggtac	14	9	2	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr5:180477150C>T	uc003mmt.2	+	4	748	c.517C>T	c.(517-519)CTC>TTC	p.L173F	BTNL9_uc011dhi.1_Missense_Mutation_p.L104F	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9 precursor	173	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(89;2.45e-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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAGCTGAGGCTCAGATCCAG	0.597													T	180477150	C	T	180477150	3	4	18	1	0	0	0	0	1	0	0	0	1568	797	28	2	527	2	BTNL9	5	180477150	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	1283863	180477150	438110	92	14108											
HIST1H2AD	3013	broad.mit.edu	37	chr6	26199112	26199112	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gccttgtggtgactctcagtCttcttggggagcagtacagc	13	10	3	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr6:26199112C>G	uc003ngw.2	-	1	360	c.360G>C	c.(358-360)AAG>AAC	p.K120N	HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank	NM_021065	NP_066409	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	120					nucleosome assembly	nucleosome|nucleus	DNA binding				0		all_hematologic(11;0.196)				GACTCTCAGTCTTCTTGGGGA	0.493													G	26199112	C	G	26199112	3	3	18	1	0	0	0	0	1	0	0	0	7131	912	32	5	36	5	HIST1H2AD	6	26199112	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08		26199112	144915955	93	14109											
ABT1	29777	broad.mit.edu	37	chr6	26598628	26598628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttcaaagtgtggaacggGgacaacgctttcttgcggcc	12	10	3	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr6:26598628G>A	uc003nii.2	+	3	605	c.574G>A	c.(574-576)GGA>AGA	p.G192R		NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	192					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			ovary(1)	1						TGTGGAACGGGGACAACGCTT	0.612													A	26598628	G	A	26598628	3	1	18	1	0	0	0	0	1	0	0	0	101	1233	43	4	584	4	ABT1	6	26598628	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	399516	26598628	144516439	94	14110											
CYP21A2	1589	broad.mit.edu	37	chr6	32007956	32007956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacaccctctcctgggccGtggtttttttgcttcaccac	7	15	2	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr6:32007956G>A	uc003nze.1	+	7	1031	c.913G>A	c.(913-915)GTG>ATG	p.V305M	CYP21A2_uc003nzf.1_Missense_Mutation_p.V275M	NM_000500	NP_000491	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A,	304			V -> M (in hyperandrogenism; due to 21- hydroxylase deficiency; non-classic type; residual activity of 46% for conversion of 17-hydroxyprogesterone and 26% for conversion of progesterone compared with the normal enzyme).		glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding				0						CTCCTGGGCCGTGGTTTTTTT	0.617													A	32007956	G	A	32007956	3	1	18	1	0	0	0	0	1	0	0	0	4153	1145	40	1	2460	1	CYP21A2	6	32007956	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	5409328	32007956	139107111	95	14111											
NOTCH4	4855	broad.mit.edu	37	chr6	32168997	32168997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctagcttttcttcagcccGggccccaggataggggtaca	11	13	2	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr6:32168997G>A	uc003obb.2	-	22	4175	c.4036C>T	c.(4036-4038)CGG>TGG	p.R1346W	NOTCH4_uc003oba.2_Missense_Mutation_p.R9W|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1346	Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						TCTTCAGCCCGGGCCCCAGGA	0.622													A	32168997	G	A	32168997	3	1	18	1	0	0	0	0	1	0	0	0	10551	1115	39	1	2011	1	NOTCH4	6	32168997	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	161041	32168997	138946070	96	14112											
DNAH8	1769	broad.mit.edu	37	chr6	38850763	38850763	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccggaatattcatcaattTtggttccaaatgttgacaat	6	7	2	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr6:38850763T>G	uc003ooe.1	+	52	7885	c.7285T>G	c.(7285-7287)TTG>GTG	p.L2429V		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TTCATCAATTTTGGTTCCAAA	0.289													G	38850763	T	G	38850763	3	3	18	1	0	0	0	0	1	0	0	0	4607	1838	64	5	7483	5	DNAH8	6	38850763	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	6681766	38850763	132264304	97	14113											
CDC5L	988	broad.mit.edu	37	chr6	44371709	44371709	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgaggaaaactaccaagctCttgacgcagatttcaggaaa	9	9	2	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr6:44371709C>G	uc003oxl.2	+	6	962	c.703C>G	c.(703-705)CTT>GTT	p.L235V		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	235	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTACCAAGCTCTTGACGCAGA	0.388													G	44371709	C	G	44371709	3	3	18	1	0	0	0	0	1	0	0	0	3082	913	32	5	725	5	CDC5L	6	44371709	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	5520946	44371709	126743358	98	14114											
DEFB112	245915	broad.mit.edu	37	chr6	50016282	50016282	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctgtcccatgtcgggccTtttcaaatattgtggaagat	9	9	2	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr6:50016282T>G	uc011dws.1	-	1	83	c.83A>C	c.(82-84)AAG>ACG	p.K28T		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	beta-defensin 112 precursor	28					defense response to bacterium	extracellular region				central_nervous_system(1)	1	Lung NSC(77;0.042)					ATGTCGGGCCTTTTCAAATAT	0.323													G	50016282	T	G	50016282	3	3	18	1	0	0	0	0	1	0	0	0	4401	1609	56	5	265	5	DEFB112	6	50016282	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	5644573	50016282	121098785	99	14115											
DST	667	broad.mit.edu	37	chr6	56417119	56417119	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaattcttcaaggcgcttaaTtgtcccttcaacctgctctt	5	12	4	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr6:56417119T>C	uc003pdf.2	-	55	10142	c.10114A>G	c.(10114-10116)ATT>GTT	p.I3372V	DST_uc003pcz.3_Missense_Mutation_p.I3194V|DST_uc011dxj.1_Missense_Mutation_p.I3223V|DST_uc011dxk.1_Missense_Mutation_p.I3234V|DST_uc003pcy.3_Missense_Mutation_p.I2868V	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5280					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)			AGGCGCTTAATTGTCCCTTCA	0.438													C	56417119	T	C	56417119	3	2	18	1	0	0	0	0	1	0	0	0	4783	1493	52	3	7085	3	DST	6	56417119	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	6400837	56417119	114697948	100	14116											
FAM135A	57579	broad.mit.edu	37	chr6	71185403	71185403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaaatgaattttctattatCcttggatctacacttcacag	6	8	3	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr6:71185403C>T	uc003pfj.2	+	5	468	c.335C>T	c.(334-336)TCC>TTC	p.S112F	FAM135A_uc003pfi.2_Missense_Mutation_p.S112F|FAM135A_uc003pfh.2_Missense_Mutation_p.S69F|FAM135A_uc003pfk.2_Missense_Mutation_p.S112F|FAM135A_uc003pfl.2_5'UTR	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	112										central_nervous_system(1)	1						TTTCTATTATCCTTGGATCTA	0.284													T	71185403	C	T	71185403	3	4	18	1	0	0	0	0	1	0	0	0	5448	855	30	4	349	4	FAM135A	6	71185403	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	14768284	71185403	99929664	101	14117											
AIM1	202	broad.mit.edu	37	chr6	106987348	106987348	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacctggtgaataccctgacTtgtccttctgggatacagaa	9	10	1	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr6:106987348T>C	uc003prh.2	+	7	4052	c.3565T>C	c.(3565-3567)TTG>CTG	p.L1189L	AIM1_uc003pri.2_5'Flank	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1189	Beta/gamma crystallin 'Greek key' 4.						sugar binding			breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ATACCCTGACTTGTCCTTCTG	0.443													C	106987348	T	C	106987348	2	2	18	1	0	0	0	0	0	0	0	1	430	1606	56	3		3	AIM1	6	106987348	Silent	SNP	T	TCGA-BR-4357-01A-01D-1158-08	35801945	106987348	64127719	102	14118											
LAMA4	3910	broad.mit.edu	37	chr6	112441542	112441542	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctaatcttcagttttttgtGaccaacattaaacatgtaaa	4	7	3	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr6:112441542G>A	uc003pvu.2	-	33	4918	c.4609C>T	c.(4609-4611)CAC>TAC	p.H1537Y	LAMA4_uc003pvv.2_Missense_Mutation_p.H1530Y|LAMA4_uc003pvt.2_Missense_Mutation_p.H1530Y	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1537	Laminin G-like 4.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AGTTTTTTGTGACCAACATTA	0.418													A	112441542	G	A	112441542	3	1	18	1	0	0	0	0	1	0	0	0	8608	1290	45	4	890	4	LAMA4	6	112441542	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	5454194	112441542	58673525	103	14119											
RBM16	22828	broad.mit.edu	37	chr6	155153435	155153435	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caccagctggacctcaaaacTtaccccctttaagtatccct	4	16	1	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr6:155153435T>G	uc003qqa.2	+	21	2954	c.2722T>G	c.(2722-2724)TTA>GTA	p.L908V	TIAM2_uc003qqb.2_5'Flank|RBM16_uc011efj.1_Missense_Mutation_p.L974V|RBM16_uc011efk.1_Missense_Mutation_p.L953V|RBM16_uc003qpz.2_Missense_Mutation_p.L908V|RBM16_uc010kji.2_Intron	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	908	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)		ACCTCAAAACTTACCCCCTTT	0.463													G	155153435	T	G	155153435	3	3	18	1	0	0	0	0	1	0	0	0	13118	1606	56	5	2800	5	RBM16	6	155153435	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	42711893	155153435	15961632	104	14120											
NOX3	50508	broad.mit.edu	37	chr6	155750139	155750140	+	Frame_Shift_Ins	INS	-	-	G													gccattttaaagccacgcttINStttcatgtgaagttccagga							TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr6:155750138_155750139T>TG	uc003qqm.3	-	8	1037_1038	c.934_935A>CA	c.(934-936)aagfs	p.K312fs		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	312	FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AAAGCCACGCTTTTTCATGTGA	0.515													G	155750140	-	G	155750139	7	5	18	1	0	1	1	0	0	0	0	0	10557	1850	64	0	792	0	NOX3	6	155750139	Frame_Shift_Ins	INS	-	TCGA-BR-4357-01A-01D-1158-08	596704	155750139	15364928	105	14121											
AGPAT4	56895	broad.mit.edu	37	chr6	161653179	161653179	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgatgattagccctgaggCaataaagacgtagcagaaga	12	6	0	6			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr6:161653179C>A	uc003qtr.1	-	2	294	c.67G>T	c.(67-69)GCC>TCC	p.A23S	AGPAT4_uc003qts.1_5'UTR|AGPAT4_uc011egb.1_Missense_Mutation_p.A23S|AGPAT4_uc003qtt.1_RNA|AGPAT4_uc011egc.1_Missense_Mutation_p.A23S|AGPAT4_uc011egd.1_Intron|AGPAT4_uc011ege.1_Missense_Mutation_p.A23S	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	23	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding				0		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		AGCCCTGAGGCAATAAAGACG	0.493													A	161653179	C	A	161653179	3	1	18	1	0	0	0	0	1	0	0	0	389	710	25	5	1101	5	AGPAT4	6	161653179	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	5903040	161653179	9461888	106	14122											
SDK1	221935	broad.mit.edu	37	chr7	3678640	3678640	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgctattcaacaggtacAttattccatctttgcagaag	6	8	2	1	rs150477138		TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr7:3678640A>G	uc003smx.2	+	3	602	c.463A>G	c.(463-465)ATT>GTT	p.I155V		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	155	Ig-like C2-type 1.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAACAGGTACATTATTCCATC	0.413													G	3678640	A	G	3678640	3	3	18	1	0	0	0	0	1	0	0	0	13968	217	8	3	473	3	SDK1	7	3678640	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08		3678640	155460023	107	14123											
ITGB8	3696	broad.mit.edu	37	chr7	20438557	20438557	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaacattaccgccatctgTccagatgggtccagaaagcc	8	12	1	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr7:20438557T>C	uc003suu.2	+	9	1926	c.1221T>C	c.(1219-1221)TGT>TGC	p.C407C	ITGB8_uc011jyh.1_Silent_p.C272C|ITGB8_uc003sut.2_Silent_p.C407C	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	407	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						CCGCCATCTGTCCAGATGGGT	0.403													C	20438557	T	C	20438557	2	2	18	1	0	0	0	0	0	0	0	1	7901	1673	58	3		3	ITGB8	7	20438557	Silent	SNP	T	TCGA-BR-4357-01A-01D-1158-08	16759917	20438557	138700106	108	14124											
CCDC129	223075	broad.mit.edu	37	chr7	31611789	31611789	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actcttgctattctactgcaAgtgtaccacaaaggtatgta	7	9	2	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr7:31611789A>C	uc003tcj.1	+	6	1375	c.382A>C	c.(382-384)AGT>CGT	p.S128R	CCDC129_uc011kad.1_Missense_Mutation_p.S138R|CCDC129_uc003tci.1_Missense_Mutation_p.S127R|CCDC129_uc011kae.1_Missense_Mutation_p.S154R|CCDC129_uc003tck.1_Missense_Mutation_p.S36R	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	128											0						TTCTACTGCAAGTGTACCACA	0.373													C	31611789	A	C	31611789	3	2	18	1	0	0	0	0	1	0	0	0	2764	72	3	5	400	5	CCDC129	7	31611789	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	11173232	31611789	127526874	109	14125											
TXNDC3	51314	broad.mit.edu	37	chr7	37890302	37890302	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tattcagaaaattgaaaaatGaactgaacgaagacgaaatt	7	4	1	5			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr7:37890302G>T	uc003tfn.2	+	5	535	c.163G>T	c.(163-165)GAA>TAA	p.E55*		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	55	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						ATTGAAAAATGAACTGAACGA	0.318									Kartagener_syndrome				T	37890302	G	T	37890302	4	4	18	1	0	0	0	0	0	1	0	0	16795	1291	45	5	173	5	TXNDC3	7	37890302	Nonsense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	6278513	37890302	121248361	110	14126			1	3		2	2	12	N	G_A	9.984437e-05
TXNDC3	51314	broad.mit.edu	37	chr7	37890313	37890313	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaaatgaactgaacgaAgacgaaattctgcattttgc	8	6	1	4			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr7:37890313A>G	uc003tfn.2	+	5	546	c.174A>G	c.(172-174)GAA>GAG	p.E58E		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	58	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						AACTGAACGAAGACGAAATTC	0.318									Kartagener_syndrome				G	37890313	A	G	37890313	2	3	18	1	0	0	0	0	0	0	0	1	16795	69	3	3		3	TXNDC3	7	37890313	Silent	SNP	A	TCGA-BR-4357-01A-01D-1158-08	11	37890313	121248350	111	14127			1	3		2	2	12	N	G_A	9.984437e-05
TXNDC3	51314	broad.mit.edu	37	chr7	37936592	37936592	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgactccatccgagcccaGtttggaataagtaaattgaa	8	10	0	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr7:37936592G>T	uc003tfn.2	+	17	2037	c.1665G>T	c.(1663-1665)CAG>CAT	p.Q555H		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	555	NDK 3.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						TCCGAGCCCAGTTTGGAATAA	0.433									Kartagener_syndrome				T	37936592	G	T	37936592	3	4	18	1	0	0	0	0	1	0	0	0	16795	1020	36	5	1723	5	TXNDC3	7	37936592	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	46279	37936592	121202071	112	14128											
HECW1	23072	broad.mit.edu	37	chr7	43477736	43477736	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagactcctggagagacaCgccatagggtaaacctgtga	11	10	0	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr7:43477736C>T	uc003tid.1	+	9	1541	c.936C>T	c.(934-936)CAC>CAT	p.H312H	HECW1_uc011kbi.1_Silent_p.H312H|HECW1_uc003tie.1_Silent_p.H344H	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	312					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						TGGAGAGACACGCCATAGGGT	0.512													T	43477736	C	T	43477736	2	4	18	1	0	0	0	0	0	0	0	1	7042	535	19	1		1	HECW1	7	43477736	Silent	SNP	C	TCGA-BR-4357-01A-01D-1158-08	5541144	43477736	115660927	113	14129											
ZNF107	51427	broad.mit.edu	37	chr7	64167982	64167982	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttactagacataagaaaattCatactggagagaaaccctac	6	8	1	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr7:64167982C>A	uc003ttd.2	+	7	2086	c.1300C>A	c.(1300-1302)CAT>AAT	p.H434N	ZNF107_uc003tte.2_Missense_Mutation_p.H434N	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	434	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TAAGAAAATTCATACTGGAGA	0.353													A	64167982	C	A	64167982	3	1	18	1	0	0	0	0	1	0	0	0	17712	826	29	5	1306	5	ZNF107	7	64167982	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	20690246	64167982	94970681	114	14130											
AUTS2	26053	broad.mit.edu	37	chr7	69364285	69364285	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctacagaaagatgtagcacTtaagcctcaggaacgtgtgg	11	8	2	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr7:69364285T>G	uc003tvw.3	+	2	1066	c.323T>G	c.(322-324)CTT>CGT	p.L108R	AUTS2_uc003tvv.3_Missense_Mutation_p.L108R|AUTS2_uc003tvx.3_Missense_Mutation_p.L108R	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	108										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GATGTAGCACTTAAGCCTCAG	0.443													G	69364285	T	G	69364285	3	3	18	1	0	0	0	0	1	0	0	0	1225	1609	56	5	329	5	AUTS2	7	69364285	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	5196303	69364285	89774378	115	14131											
ABCB4	5244	broad.mit.edu	37	chr7	87035760	87035760	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagacacgattccgagttgAgctctgagccactggacatt	11	10	1	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr7:87035760A>G	uc003uiv.1	-	26	3427	c.3351T>C	c.(3349-3351)GCT>GCC	p.A1117A	ABCB4_uc003uiw.1_Silent_p.A1110A|ABCB4_uc003uix.1_Silent_p.A1063A	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	1117	ABC transporter 2.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTCCGAGTTGAGCTCTGAGCC	0.428													G	87035760	A	G	87035760	2	3	18	1	0	0	0	0	0	0	0	1	43	291	11	3		3	ABCB4	7	87035760	Silent	SNP	A	TCGA-BR-4357-01A-01D-1158-08	17671475	87035760	72102903	116	14132											
ZNF804B	219578	broad.mit.edu	37	chr7	88964302	88964302	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtagggggtcacagtgaccAtgggaaagacttcagtgtaa	14	6	2	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr7:88964302A>T	uc011khi.1	+	4	2544	c.2006A>T	c.(2005-2007)CAT>CTT	p.H669L		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	669						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CACAGTGACCATGGGAAAGAC	0.428										HNSCC(36;0.09)			T	88964302	A	T	88964302	3	4	18	1	0	0	0	0	1	0	0	0	18168	217	8	5	2020	5	ZNF804B	7	88964302	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	1928542	88964302	70174361	117	14133											
STEAP1	26872	broad.mit.edu	37	chr7	89790313	89790313	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttacactcttctgagggaAgtaattcaccctttagcaac	6	11	3	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr7:89790313A>C	uc003ujx.2	+	3	479	c.279A>C	c.(277-279)GAA>GAC	p.E93D	STEAP1_uc010lem.2_Missense_Mutation_p.E93D	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the	93					electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	all_hematologic(106;0.112)					TTCTGAGGGAAGTAATTCACC	0.388													C	89790313	A	C	89790313	3	2	18	1	0	0	0	0	1	0	0	0	15276	69	3	5	285	5	STEAP1	7	89790313	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	826011	89790313	69348350	118	14134											
PLOD3	8985	broad.mit.edu	37	chr7	100853950	100853950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtatggtacattccacaCacccctggaggcaccgacac	9	14	0	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr7:100853950C>T	uc003uyd.2	-	13	1819	c.1363G>A	c.(1363-1365)GTG>ATG	p.V455M	PLOD3_uc010lhs.2_Missense_Mutation_p.V20M	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	455					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	ACATTCCACACACCCCTGGAG	0.607													T	100853950	C	T	100853950	3	4	18	1	0	0	0	0	1	0	0	0	12103	478	17	4	881	4	PLOD3	7	100853950	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	11063637	100853950	58284713	119	14135											
PRKAR2B	5577	broad.mit.edu	37	chr7	106786820	106786820	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggtaactatgataatcgtGggagtttcggcgaactggcc	13	7	0	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr7:106786820G>T	uc003vdx.2	+	6	830	c.655G>T	c.(655-657)GGG>TGG	p.G219W		NM_002736	NP_002727	P31323	KAP3_HUMAN	cAMP-dependent protein kinase, regulatory	219	cAMP 1.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1						TGATAATCGTGGGAGTTTCGG	0.423													T	106786820	G	T	106786820	3	4	18	1	0	0	0	0	1	0	0	0	12506	1348	47	5	677	5	PRKAR2B	7	106786820	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	5932870	106786820	52351843	120	14136											
SLC35B4	84912	broad.mit.edu	37	chr7	133994182	133994182	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagccttccacagcaaTaaataaaaattgtgcaaatg	8	7	0	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr7:133994182T>A	uc003vrn.2	-	2	451	c.127A>T	c.(127-129)ATT>TTT	p.I43F	SLC35B4_uc010lmk.2_5'UTR|SLC35B4_uc010lml.1_5'UTR|SLC35B4_uc003vro.3_Missense_Mutation_p.I43F	NM_032826	NP_116215	Q969S0	S35B4_HUMAN	solute carrier family 35, member B4	43	Helical; (Potential).					Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			skin(1)	1						TCCACAGCAATAAATAAAAAT	0.398													A	133994182	T	A	133994182	3	1	18	1	0	0	0	0	1	0	0	0	14578	1406	49	5	904	5	SLC35B4	7	133994182	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	27207362	133994182	25144481	121	14137											
DGKI	9162	broad.mit.edu	37	chr7	137257570	137257570	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaatctttggggtgagAtctgttccatcacactgaaa	9	9	3	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr7:137257570A>G	uc003vtt.2	-	18	1777	c.1776T>C	c.(1774-1776)GAT>GAC	p.D592D	DGKI_uc003vtu.2_Silent_p.D292D	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	592					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						TTGGGGTGAGATCTGTTCCAT	0.363													G	137257570	A	G	137257570	2	3	18	1	0	0	0	0	0	0	0	1	4471	330	12	3		3	DGKI	7	137257570	Silent	SNP	A	TCGA-BR-4357-01A-01D-1158-08	3263388	137257570	21881093	122	14138											
DLC1	10395	broad.mit.edu	37	chr8	12957933	12957933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgggagagggcaggctgCcgaaagagtcgtcattgcct	15	10	1	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr8:12957933C>T	uc003wwm.2	-	9	2357	c.1913G>A	c.(1912-1914)GGC>GAC	p.G638D	DLC1_uc003wwk.1_Missense_Mutation_p.G201D|DLC1_uc003wwl.1_Missense_Mutation_p.G235D|DLC1_uc011kxx.1_Missense_Mutation_p.G127D	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	638					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GGGCAGGCTGCCGAAAGAGTC	0.592													T	12957933	C	T	12957933	3	4	18	1	0	0	0	0	1	0	0	0	4550	739	26	2	2713	2	DLC1	8	12957933	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08		12957933	133406089	123	14139											
DLC1	10395	broad.mit.edu	37	chr8	12958076	12958076	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggctgcggacggaagacacCtcctggcgctcgctgaggtc	15	13	0	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr8:12958076C>A	uc003wwm.2	-	9	2214	c.1770G>T	c.(1768-1770)GAG>GAT	p.E590D	DLC1_uc003wwk.1_Missense_Mutation_p.E153D|DLC1_uc003wwl.1_Missense_Mutation_p.E187D|DLC1_uc011kxx.1_Missense_Mutation_p.E79D	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	590					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						CGGAAGACACCTCCTGGCGCT	0.692													A	12958076	C	A	12958076	3	1	18	1	0	0	0	0	1	0	0	0	4550	680	24	5	2856	5	DLC1	8	12958076	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	143	12958076	133405946	124	14140											
NRG1	3084	broad.mit.edu	37	chr8	32621751	32621751	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgaaagagtaggtgaagAtacgcctttcctgggcatac	12	7	0	5			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr8:32621751A>G	uc003xiv.2	+	12	2271	c.1754A>G	c.(1753-1755)GAT>GGT	p.D585G	NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.D590G|NRG1_uc003xiw.2_Missense_Mutation_p.D582G|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.D327G|NRG1_uc010lvs.2_Missense_Mutation_p.D327G|NRG1_uc010lvp.2_Missense_Mutation_p.D539G|NRG1_uc010lvq.2_Missense_Mutation_p.D522G|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.D428G|NRG1_uc003xja.2_Missense_Mutation_p.D396G	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	585	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GTAGGTGAAGATACGCCTTTC	0.542													G	32621751	A	G	32621751	3	3	18	1	0	0	0	0	1	0	0	0	10647	333	12	3	3525	3	NRG1	8	32621751	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	19663675	32621751	113742271	125	14141											
PRDM14	63978	broad.mit.edu	37	chr8	70981815	70981815	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggtggcagcttgctgtacCagggcagatcgtagagaggc	16	9	0	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr8:70981815C>T	uc003xym.2	-	2	483	c.281G>A	c.(280-282)TGG>TAG	p.W94*		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CTTGCTGTACCAGGGCAGATC	0.667													T	70981815	C	T	70981815	4	4	18	1	0	0	0	0	0	1	0	0	12455	595	21	4	1462	4	PRDM14	8	70981815	Nonsense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	38360064	70981815	75382207	126	14142											
RUNX1T1	862	broad.mit.edu	37	chr8	93004118	93004118	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaagccattttctttggttCtaaagggggaaaaaacaaga	9	6	2	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr8:93004118C>T	uc003yfd.2	-	6	825	c.741_splice	c.e6-1	p.R247_splice	RUNX1T1_uc003yfc.1_Splice_Site_p.R220_splice|RUNX1T1_uc003yfe.1_Splice_Site_p.R210_splice|RUNX1T1_uc010mao.2_Splice_Site_p.R220_splice|RUNX1T1_uc011lgi.1_Splice_Site_p.R258_splice|RUNX1T1_uc010man.1_Splice_Site|RUNX1T1_uc003yfb.1_Splice_Site_p.R210_splice	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1						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)			TTCTTTGGTTCTAAAGGGGGA	0.403													T	93004118	C	T	93004118	5	4	18	1	0	0	0	0	0	0	1	0	13747	927	32	4	1098	4	RUNX1T1	8	93004118	Splice_Site	SNP	C	TCGA-BR-4357-01A-01D-1158-08	22022303	93004118	53359904	127	14143											
RUNX1T1	862	broad.mit.edu	37	chr8	93023265	93023265	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaaaaggtctcagtgggaAgttagtagcttcttgcagtt	12	6	2	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr8:93023265A>C	uc003yfd.2	-	4	607	c.523T>G	c.(523-525)TTC>GTC	p.F175V	RUNX1T1_uc003yfc.1_Missense_Mutation_p.F148V|RUNX1T1_uc003yfe.1_Missense_Mutation_p.F138V|RUNX1T1_uc010mao.2_Missense_Mutation_p.F148V|RUNX1T1_uc011lgi.1_Missense_Mutation_p.F186V|RUNX1T1_uc003yfh.1_Missense_Mutation_p.F138V|RUNX1T1_uc003yfb.1_Missense_Mutation_p.F138V|RUNX1T1_uc003yff.1_Missense_Mutation_p.F138V|RUNX1T1_uc003yfg.1_Missense_Mutation_p.F138V	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	175	TAFH.			F->A: Abolishes interaction with corepressor.	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)			CTCAGTGGGAAGTTAGTAGCT	0.348													C	93023265	A	C	93023265	3	2	18	1	0	0	0	0	1	0	0	0	13747	72	3	5	1323	5	RUNX1T1	8	93023265	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	19147	93023265	53340757	128	14144											
POP1	10940	broad.mit.edu	37	chr8	99139913	99139913	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgagcagtcttcctccaAagggatgtttagaaaaaagg	11	6	1	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr8:99139913A>G	uc003yij.3	+	3	333	c.233A>G	c.(232-234)AAA>AGA	p.K78R	POP1_uc011lgv.1_Missense_Mutation_p.K78R|POP1_uc003yik.2_Missense_Mutation_p.K78R	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	78					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TCTTCCTCCAAAGGGATGTTT	0.498													G	99139913	A	G	99139913	3	3	18	1	0	0	0	0	1	0	0	0	12251	14	1	3	239	3	POP1	8	99139913	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	6116648	99139913	47224109	129	14145											
YWHAZ	7534	broad.mit.edu	37	chr8	101932970	101932970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcgtctccttgggtatccGatgtccacaactggtaaaag	9	11	1	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr8:101932970G>A	uc011lhe.1	-	6	866	c.689C>T	c.(688-690)TCG>TTG	p.S230L	YWHAZ_uc003yjv.2_Missense_Mutation_p.S230L|YWHAZ_uc011lhf.1_Missense_Mutation_p.S230L|YWHAZ_uc003yjw.2_Missense_Mutation_p.S230L|YWHAZ_uc010mbq.2_Missense_Mutation_p.S153L|YWHAZ_uc011lhg.1_Missense_Mutation_p.S110L|YWHAZ_uc010mbr.2_Missense_Mutation_p.S230L|YWHAZ_uc003yjx.2_Missense_Mutation_p.S230L	NM_001135702	NP_001129174	P63104	1433Z_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	230					anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding				0	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)	TTGGGTATCCGATGTCCACAA	0.458													A	101932970	G	A	101932970	3	1	18	1	0	0	0	0	1	0	0	0	17503	1059	37	1	52	1	YWHAZ	8	101932970	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	2793057	101932970	44431052	130	14146											
PKHD1L1	93035	broad.mit.edu	37	chr8	110424511	110424511	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggaacatattaacagaggGcagaagacagctgaaaccga	11	7	0	4			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr8:110424511G>A	uc003yne.2	+	20	2207	c.2103G>A	c.(2101-2103)GGG>GGA	p.G701G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	701	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTAACAGAGGGCAGAAGACAG	0.413										HNSCC(38;0.096)			A	110424511	G	A	110424511	2	1	18	1	0	0	0	0	0	0	0	1	11972	1190	42	2		2	PKHD1L1	8	110424511	Silent	SNP	G	TCGA-BR-4357-01A-01D-1158-08	8491541	110424511	35939511	131	14147											
PKHD1L1	93035	broad.mit.edu	37	chr8	110527434	110527434	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attttcttttccacacttcaAcgtttggatgtctatgtgaa	6	8	3	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr8:110527434A>C	uc003yne.2	+	72	11693	c.11589A>C	c.(11587-11589)CAA>CAC	p.Q3863H		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3863	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCACACTTCAACGTTTGGATG	0.318										HNSCC(38;0.096)			C	110527434	A	C	110527434	3	2	18	1	0	0	0	0	1	0	0	0	11972	40	2	5	11875	5	PKHD1L1	8	110527434	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	102923	110527434	35836588	132	14148											
CSMD3	114788	broad.mit.edu	37	chr8	113529404	113529404	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttctcttccatccccatttcGagtcccattcatggggaccc	6	16	2	0	rs149308903		TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr8:113529404G>T	uc003ynu.2	-	28	4774	c.4615C>A	c.(4615-4617)CGA>AGA	p.R1539R	CSMD3_uc003yns.2_Silent_p.R811R|CSMD3_uc003ynt.2_Silent_p.R1499R|CSMD3_uc011lhx.1_Silent_p.R1435R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1539	Extracellular (Potential).|Sushi 8.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TCCCCATTTCGAGTCCCATTC	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113529404	G	T	113529404	2	4	18	1	0	0	0	0	0	0	0	1	3946	1066	37	5		5	CSMD3	8	113529404	Silent	SNP	G	TCGA-BR-4357-01A-01D-1158-08	3001970	113529404	32834618	133	14149											
TRPS1	7227	broad.mit.edu	37	chr8	116617098	116617098	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgggtgagtctgaagaaaAtgttgttctaattcggtgga	13	3	2	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr8:116617098A>G	uc003ynz.2	-	3	1518	c.1059T>C	c.(1057-1059)CAT>CAC	p.H353H	TRPS1_uc011lhy.1_Silent_p.H357H|TRPS1_uc003yny.2_Silent_p.H366H|TRPS1_uc010mcy.2_Silent_p.H353H	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	353	C2H2-type 2; atypical.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCTGAAGAAAATGTTGTTCTA	0.423									Langer-Giedion_syndrome				G	116617098	A	G	116617098	2	3	18	1	0	0	0	0	0	0	0	1	16590	98	4	3		3	TRPS1	8	116617098	Silent	SNP	A	TCGA-BR-4357-01A-01D-1158-08	3087694	116617098	29746924	134	14150											
TMEM65	157378	broad.mit.edu	37	chr8	125334366	125334366	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtccagctagatctgaCacaagatttcccaaagcagc	7	13	1	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr8:125334366C>A	uc010mdl.2	-	5	1037	c.495G>T	c.(493-495)GTG>GTT	p.V165V		NM_194291	NP_919267	Q6PI78	TMM65_HUMAN	transmembrane protein 65	165	Helical; (Potential).					integral to membrane					0	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTAGATCTGACACAAGATTTC	0.294													A	125334366	C	A	125334366	2	1	18	1	0	0	0	0	0	0	0	1	16191	465	17	5		5	TMEM65	8	125334366	Silent	SNP	C	TCGA-BR-4357-01A-01D-1158-08	8717268	125334366	21029656	135	14151											
ADCY8	114	broad.mit.edu	37	chr8	131916177	131916177	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggctgcttaattaagtaAgtttcgatattatgcttcct	7	7	1	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr8:131916177A>C	uc003ytd.3	-	7	2008	c.1752T>G	c.(1750-1752)ACT>ACG	p.T584T	ADCY8_uc010mds.2_Silent_p.T584T	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	584	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TAATTAAGTAAGTTTCGATAT	0.483										HNSCC(32;0.087)			C	131916177	A	C	131916177	2	2	18	1	0	0	0	0	0	0	0	1	300	59	3	5		5	ADCY8	8	131916177	Silent	SNP	A	TCGA-BR-4357-01A-01D-1158-08	6581811	131916177	14447845	136	14152											
EFR3A	23167	broad.mit.edu	37	chr8	132962265	132962265	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaccatcctatcacagacGttatgacttttttgtgtctc	5	12	2	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr8:132962265G>T	uc003yte.2	+	5	617	c.416G>T	c.(415-417)CGT>CTT	p.R139L		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A	139						plasma membrane	binding			ovary(3)|breast(1)|central_nervous_system(1)	5	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TATCACAGACGTTATGACTTT	0.328													T	132962265	G	T	132962265	3	4	18	1	0	0	0	0	1	0	0	0	4958	1145	40	5	434	5	EFR3A	8	132962265	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	1046088	132962265	13401757	137	14153											
PLEC	5339	broad.mit.edu	37	chr8	144993129	144993129	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcaatgatctcgatgatgatGatgatcatgcgttccttggt	10	7	3	5			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr8:144993129G>C	uc003zaf.1	-	32	11441	c.11271C>G	c.(11269-11271)ATC>ATG	p.I3757M	PLEC_uc003zab.1_Missense_Mutation_p.I3620M|PLEC_uc003zac.1_Missense_Mutation_p.I3624M|PLEC_uc003zad.2_Missense_Mutation_p.I3620M|PLEC_uc003zae.1_Missense_Mutation_p.I3588M|PLEC_uc003zag.1_Missense_Mutation_p.I3598M|PLEC_uc003zah.2_Missense_Mutation_p.I3606M|PLEC_uc003zaj.2_Missense_Mutation_p.I3647M	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3757	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CGATGATGATGATGATCATGC	0.617													C	144993129	G	C	144993129	3	2	18	1	0	0	0	0	1	0	0	0	12052	1280	45	5	2787	5	PLEC	8	144993129	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	12030864	144993129	1370893	138	14154											
PLEC	5339	broad.mit.edu	37	chr8	144993332	144993332	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agtgtacacctgcgtggtctCcaccacctcagccttctccg	8	17	3	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr8:144993332C>G	uc003zaf.1	-	32	11238	c.11068G>C	c.(11068-11070)GAG>CAG	p.E3690Q	PLEC_uc003zab.1_Missense_Mutation_p.E3553Q|PLEC_uc003zac.1_Missense_Mutation_p.E3557Q|PLEC_uc003zad.2_Missense_Mutation_p.E3553Q|PLEC_uc003zae.1_Missense_Mutation_p.E3521Q|PLEC_uc003zag.1_Missense_Mutation_p.E3531Q|PLEC_uc003zah.2_Missense_Mutation_p.E3539Q|PLEC_uc003zaj.2_Missense_Mutation_p.E3580Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3690	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TGCGTGGTCTCCACCACCTCA	0.632													G	144993332	C	G	144993332	3	3	18	1	0	0	0	0	1	0	0	0	12052	864	30	5	2990	5	PLEC	8	144993332	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	203	144993332	1370690	139	14155											
KCNV2	169522	broad.mit.edu	37	chr9	2718317	2718317	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctactggggcgtgcggctcaAgtacacgccacgctgctgcc	13	15	1	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr9:2718317A>G	uc003zho.1	+	1	792	c.578A>G	c.(577-579)AAG>AGG	p.K193R		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	193	Extracellular (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		GTGCGGCTCAAGTACACGCCA	0.672													G	2718317	A	G	2718317	3	3	18	1	0	0	0	0	1	0	0	0	8095	72	3	3	580	3	KCNV2	9	2718317	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08		2718317	138495114	140	14156											
MPDZ	8777	broad.mit.edu	37	chr9	13217225	13217225	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaatggtaattcctaatccTtggacatttttagtgagttc	8	7	0	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr9:13217225T>G	uc010mia.1	-	8	1212	c.1155A>C	c.(1153-1155)CAA>CAC	p.Q385H	MPDZ_uc010mhy.2_Missense_Mutation_p.Q385H|MPDZ_uc010mhz.2_Missense_Mutation_p.Q385H|MPDZ_uc011lmn.1_Missense_Mutation_p.Q385H|MPDZ_uc003zlb.3_Missense_Mutation_p.Q385H	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	385	PDZ 3.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		TTCCTAATCCTTGGACATTTT	0.294													G	13217225	T	G	13217225	3	3	18	1	0	0	0	0	1	0	0	0	9722	1606	56	5	5122	5	MPDZ	9	13217225	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	10498908	13217225	127996206	141	14157											
HEMGN	55363	broad.mit.edu	37	chr9	100692752	100692752	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgtgtttttgtagaaaggtCtttaggctcagctatttctt	10	5	3	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr9:100692752C>A	uc004axy.2	-	3	1033	c.925G>T	c.(925-927)GAC>TAC	p.D309Y	HEMGN_uc004axz.2_Missense_Mutation_p.D309Y	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	hemogen	309					cell differentiation|multicellular organismal development					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				GTAGAAAGGTCTTTAGGCTCA	0.383													A	100692752	C	A	100692752	3	1	18	1	0	0	0	0	1	0	0	0	7050	913	32	5	537	5	HEMGN	9	100692752	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	87475527	100692752	40520679	142	14158											
OR13C2	392376	broad.mit.edu	37	chr9	107367876	107367876	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtcccttcagaaaaaaTtccaccagaatggtgtggtt	9	8	1	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr9:107367876T>A	uc011lvq.1	-	1	33	c.33A>T	c.(31-33)GAA>GAT	p.E11D		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C,	11	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TCAGAAAAAATTCCACCAGAA	0.373													A	107367876	T	A	107367876	3	1	18	1	0	0	0	0	1	0	0	0	10934	1490	52	5	926	5	OR13C2	9	107367876	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	6675124	107367876	33845555	143	14159											
PTGR1	22949	broad.mit.edu	37	chr9	114325440	114325440	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttccccaaattatctcctttCagcattcccataaatgcagc	3	14	2	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr9:114325440C>G	uc004bfh.2	-	10	1054	c.951G>C	c.(949-951)CTG>CTC	p.L317L	ZNF483_uc004bfg.2_Intron|PTGR1_uc011lwr.1_Intron|PTGR1_uc004bfi.3_Silent_p.L317L|PTGR1_uc004bfj.3_3'UTR	NM_012212	NP_036344	Q14914	PTGR1_HUMAN	prostaglandin reductase 1 isoform 1	317					leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding				0						TATCTCCTTTCAGCATTCCCA	0.343													G	114325440	C	G	114325440	2	3	18	1	0	0	0	0	0	0	0	1	12753	813	29	5		5	PTGR1	9	114325440	Silent	SNP	C	TCGA-BR-4357-01A-01D-1158-08	6957564	114325440	26887991	144	14160											
COL27A1	85301	broad.mit.edu	37	chr9	116930585	116930585	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccccactgggacctctcttCtcccaagactctggcagacc	7	18	3	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr9:116930585C>A	uc011lxl.1	+	3	750	c.750C>A	c.(748-750)TTC>TTA	p.F250L	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.F100L	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	250					cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						GACCTCTCTTCTCCCAAGACT	0.587													A	116930585	C	A	116930585	3	1	18	1	0	0	0	0	1	0	0	0	3685	912	32	5	760	5	COL27A1	9	116930585	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	2605145	116930585	24282846	145	14161											
HSPA5	3309	broad.mit.edu	37	chr9	127999057	127999057	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcttctacagctttttccatGgtctccttatcttcagagga	6	11	5	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr9:127999057G>C	uc004bpn.2	-	8	2035	c.1779C>G	c.(1777-1779)ACC>ACG	p.T593T		NM_005347	NP_005338	P11021	GRP78_HUMAN	heat shock 70kDa protein 5	593					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			ovary(3)|skin(1)	4					Antihemophilic Factor(DB00025)	CTTTTTCCATGGTCTCCTTAT	0.383										Prostate(1;0.17)			C	127999057	G	C	127999057	2	2	18	1	0	0	0	0	0	0	0	1	7414	1335	47	5		5	HSPA5	9	127999057	Silent	SNP	G	TCGA-BR-4357-01A-01D-1158-08	11068472	127999057	13214374	146	14162											
C9orf119	375757	broad.mit.edu	37	chr9	131038446	131038446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagcggcgtggccagaggGacctgtggcgtcacaacaaa	15	11	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr9:131038446G>A	uc004bup.2	+	1	22	c.22G>A	c.(22-24)GAC>AAC	p.D8N	GOLGA2_uc011maw.1_5'Flank|GOLGA2_uc010mxw.2_5'Flank|GOLGA2_uc004bul.1_5'Flank|C9orf119_uc010mxx.1_Missense_Mutation_p.D8N	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	hypothetical protein LOC375757	8					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding				0						TGGCCAGAGGGACCTGTGGCG	0.642													A	131038446	G	A	131038446	3	1	18	1	0	0	0	0	1	0	0	0	2452	1174	41	4	24	4	C9orf119	9	131038446	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	3039389	131038446	10174985	147	14163											
TTF1	7270	broad.mit.edu	37	chr9	135278082	135278082	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatttgagactgttcattcaCcagggaggagtctctgaaaa	10	7	3	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr9:135278082C>A	uc004cbl.2	-	2	179	c.127G>T	c.(127-129)GTG>TTG	p.V43L	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	43	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TGTTCATTCACCAGGGAGGAG	0.373													A	135278082	C	A	135278082	3	1	18	1	0	0	0	0	1	0	0	0	16715	507	18	5	2630	5	TTF1	9	135278082	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	4239636	135278082	5935349	148	14164											
C9orf86	55684	broad.mit.edu	37	chr9	139734246	139734256	+	Frame_Shift_Del	DEL	GACTGAAGAAT	GACTGAAGAAT	-													gctccctctccccgccttcaGactgaagaatgactcggacc							TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr9:139734245_139734255AGACTGAAGAAT>A	uc004cjj.1	+	12	2318_2328	c.1861_1871AGACTGAAGAAT>A	c.(1861-1872)agactgaagaatfs	p.R621fs	C9orf86_uc004cji.1_Frame_Shift_Del_p.R620fs|C9orf86_uc004cjk.1_Non-coding_Transcript|C9orf86_uc004cjl.1_Non-coding_Transcript|C9orf86_uc010nbs.1_Frame_Shift_Del_p.R505fs|C9orf86_uc004cjn.1_Frame_Shift_Del_p.R414fs	NM_001173988	NP_001167459	Q3YEC7	PARF_HUMAN	Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA.	620					small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding			endometrium(4)|kidney(1)|lung(4)	9	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		CCCCGCCTTCAGACTGAAGAATGACTCGGAC	0.664													-	139734256	GACTGAAGAAT	-	139734246	7	5	18	1	0	1	0	1	0	0	0	0	2502	942	33	0	2156	0	C9orf86	9	139734246	Frame_Shift_Del	DEL	GACTGAAGAAT	TCGA-BR-4357-01A-01D-1158-08	4456164	139734246	1479185	149	14165											
EHMT1	79813	broad.mit.edu	37	chr9	140711934	140711934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgggacatgggctggggcGtgcggtccctgcaggacatc	18	12	0	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr9:140711934G>A	uc011mfc.1	+	24	3455	c.3418G>A	c.(3418-3420)GTG>ATG	p.V1140M	EHMT1_uc004coe.2_Missense_Mutation_p.V45M	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1140	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GGGCTGGGGCGTGCGGTCCCT	0.612													A	140711934	G	A	140711934	3	1	18	1	0	0	0	0	1	0	0	0	4983	1145	40	1	3561	1	EHMT1	9	140711934	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	977688	140711934	501497	150	14166											
CUBN	8029	broad.mit.edu	37	chr10	16911646	16911646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattcttacccaatgtctgcCggaaagacatcttccagcct	6	13	3	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr10:16911646C>T	uc001ioo.2	-	59	9495	c.9443G>A	c.(9442-9444)CGG>CAG	p.R3148Q	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.R504Q	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3148	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAATGTCTGCCGGAAAGACAT	0.468													T	16911646	C	T	16911646	3	4	18	1	0	0	0	0	1	0	0	0	4051	652	23	1	1464	1	CUBN	10	16911646	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08		16911646	118623101	151	14167											
MRC1	4360	broad.mit.edu	37	chr10	18196558	18196558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgattgtgtagctttacatGcgtcttctgggttttggagt	12	5	2	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr10:18196558G>A	uc001ipm.2	+	28	4112	c.4009G>A	c.(4009-4011)GCG>ACG	p.A1337T		NM_002438	NP_002429	P22897	MRC1_HUMAN	mannose receptor C type 1 precursor	1337	Extracellular (Potential).|C-type lectin 8.				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity				0						AGCTTTACATGCGTCTTCTGG	0.413													A	18196558	G	A	18196558	3	1	18	1	0	0	0	0	1	0	0	0	9756	1319	46	2	8610	2	MRC1	10	18196558	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	1284912	18196558	117338189	152	14168											
SLC39A12	221074	broad.mit.edu	37	chr10	18270258	18270258	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagacctgcttctctgctagGcagctggtggagatatttct	11	10	2	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr10:18270258G>T	uc001ipo.2	+	6	1215	c.942G>T	c.(940-942)AGG>AGT	p.R314S	SLC39A12_uc001ipn.2_Missense_Mutation_p.R314S|SLC39A12_uc001ipp.2_Missense_Mutation_p.R314S|SLC39A12_uc010qck.1_Missense_Mutation_p.R180S	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	314	Cytoplasmic (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						TCTCTGCTAGGCAGCTGGTGG	0.448													T	18270258	G	T	18270258	3	4	18	1	0	0	0	0	1	0	0	0	14615	1194	42	5	960	5	SLC39A12	10	18270258	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	73700	18270258	117264489	153	14169											
MLLT10	8028	broad.mit.edu	37	chr10	22002749	22002749	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcgtttccaaatgtagtatCtggctcgggatctagtactc	9	9	2	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr10:22002749C>T	uc001iqs.2	+	15	2144	c.1796C>T	c.(1795-1797)TCT>TTT	p.S599F	MLLT10_uc001iqt.2_Missense_Mutation_p.S583F|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.S583F|MLLT10_uc001ira.2_Missense_Mutation_p.S40F|MLLT10_uc001irb.2_RNA	NM_004641	NP_004632	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	599	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(1)|skin(1)	2						AATGTAGTATCTGGCTCGGGA	0.413			T	MLL|PICALM|CDK6	AL								T	22002749	C	T	22002749	3	4	18	1	0	0	0	0	1	0	0	0	9626	913	32	4	1850	4	MLLT10	10	22002749	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	3732491	22002749	113531998	154	14170											
ANKRD30A	91074	broad.mit.edu	37	chr10	37421247	37421247	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgataaaaaatgcaaAtgcgaatgcagttaataagt	8	4	0	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr10:37421247A>C	uc001iza.1	+	4	521	c.422A>C	c.(421-423)AAT>ACT	p.N141T		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	197	ANK 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						AAAAATGCAAATGCGAATGCA	0.299													C	37421247	A	C	37421247	3	2	18	1	0	0	0	0	1	0	0	0	658	101	4	5	436	5	ANKRD30A	10	37421247	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	15418498	37421247	98113500	155	14171											
ZNF37A	7587	broad.mit.edu	37	chr10	38407159	38407159	+	Missense_Mutation	SNP	T	T	G													ccatatgaatgtcatgaatgTgggaaaaccttctcatttaa							TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr10:38407159T>G	uc001izk.2	+	8	1899	c.1080T>G	c.(1078-1080)TGT>TGG	p.C360W	ZNF37A_uc001izl.2_Missense_Mutation_p.C360W|ZNF37A_uc001izm.2_Missense_Mutation_p.C360W	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN	zinc finger protein 37a	360	C2H2-type 6.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)	1						GTCATGAATGTGGGAAAACCT	0.428													G	38407159	T	G	38407159	3	3	18	1	0	0	0	0	1	0	0	0	17869	1702	59	5	1094	5	ZNF37A	10	38407159	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	985912	38407159	97127588	156	14172	47	2									
ZNF37A	7587	broad.mit.edu	37	chr10	38407163	38407163	+	Missense_Mutation	SNP	A	A	G													atgaatgtcatgaatgtgggAaaaccttctcatttaagtca							TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr10:38407163A>G	uc001izk.2	+	8	1903	c.1084A>G	c.(1084-1086)AAA>GAA	p.K362E	ZNF37A_uc001izl.2_Missense_Mutation_p.K362E|ZNF37A_uc001izm.2_Missense_Mutation_p.K362E	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN	zinc finger protein 37a	362	C2H2-type 6.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)	1						TGAATGTGGGAAAACCTTCTC	0.423													G	38407163	A	G	38407163	3	3	18	1	0	0	0	0	1	0	0	0	17869	247	9	3	1098	3	ZNF37A	10	38407163	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	4	38407163	97127584	157	14173	47	2									
MYST4	23522	broad.mit.edu	37	chr10	76788893	76788893	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagccacatggagtctgcCgaagtggagaaggaagagct	15	8	1	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr10:76788893C>A	uc001jwn.1	+	18	4804	c.4311C>A	c.(4309-4311)GCC>GCA	p.A1437A	MYST4_uc001jwo.1_Silent_p.A1145A|MYST4_uc001jwp.1_Silent_p.A1254A	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1437					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					TGGAGTCTGCCGAAGTGGAGA	0.507			T	CREBBP	AML								A	76788893	C	A	76788893	2	1	18	1	0	0	0	0	0	0	0	1	10105	639	23	5		5	MYST4	10	76788893	Silent	SNP	C	TCGA-BR-4357-01A-01D-1158-08	38381730	76788893	58745854	158	14174											
DLG5	9231	broad.mit.edu	37	chr10	79566548	79566548	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggaatctgcccgcgctggatCttctgggcattctcgtccag	12	13	4	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr10:79566548C>G	uc001jzk.2	-	26	5005	c.4935G>C	c.(4933-4935)AAG>AAC	p.K1645N	DLG5_uc001jzi.2_Missense_Mutation_p.K400N|DLG5_uc001jzj.2_Missense_Mutation_p.K1060N|DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1645	SH3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CGCGCTGGATCTTCTGGGCAT	0.607													G	79566548	C	G	79566548	3	3	18	1	0	0	0	0	1	0	0	0	4558	912	32	5	852	5	DLG5	10	79566548	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	2777655	79566548	55968199	159	14175											
MINPP1	9562	broad.mit.edu	37	chr10	89272968	89272968	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgatgtttttgacatagAtgatgcaaaggtaagtatta	11	2	0	4			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr10:89272968A>T	uc001keu.2	+	3	1373	c.923A>T	c.(922-924)GAT>GTT	p.D308V	MINPP1_uc009xtf.1_Intron|MINPP1_uc001kev.2_Intron	NM_004897	NP_004888	Q9UNW1	MINP1_HUMAN	multiple inositol polyphosphate histidine	308					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			urinary_tract(1)	1		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		TTTGACATAGATGATGCAAAG	0.328													T	89272968	A	T	89272968	3	4	18	1	0	0	0	0	1	0	0	0	9588	333	12	5	971	5	MINPP1	10	89272968	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	9706420	89272968	46261779	160	14176											
PPP1R3C	5507	broad.mit.edu	37	chr10	93389974	93389974	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttggaatgacagggggtaAgtcaatggcaaatgagaagg	16	3	1	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr10:93389974A>G	uc001kho.2	-	2	796	c.664T>C	c.(664-666)TTA>CTA	p.L222L		NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory (inhibitor)	222	Interaction with EPM2A.|CBM21.						protein serine/threonine phosphatase activity			breast(1)	1		Colorectal(252;0.235)				ACAGGGGGTAAGTCAATGGCA	0.398													G	93389974	A	G	93389974	2	3	18	1	0	0	0	0	0	0	0	1	12373	69	3	3		3	PPP1R3C	10	93389974	Silent	SNP	A	TCGA-BR-4357-01A-01D-1158-08	4117006	93389974	42144773	161	14177											
SLIT1	6585	broad.mit.edu	37	chr10	98806446	98806446	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagaccccggaacatgccGctccggatggactccagctg	11	16	0	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr10:98806446G>A	uc001kmw.2	-	18	2070	c.1818C>T	c.(1816-1818)AGC>AGT	p.S606S	SLIT1_uc009xvh.1_Silent_p.S616S	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	606	LRR 14.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGAACATGCCGCTCCGGATGG	0.617													A	98806446	G	A	98806446	2	1	18	1	0	0	0	0	0	0	0	1	14739	1078	38	1		1	SLIT1	10	98806446	Silent	SNP	G	TCGA-BR-4357-01A-01D-1158-08	5416472	98806446	36728301	162	14178											
TMEM180	79847	broad.mit.edu	37	chr10	104230737	104230737	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttttggaacaaggaggatttCtcctccttccgcgctttctg	9	11	2	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr10:104230737C>G	uc001kvt.2	+	5	786	c.567C>G	c.(565-567)TTC>TTG	p.F189L	TMEM180_uc001kvs.2_Intron|TMEM180_uc010qql.1_Intron|TMEM180_uc010qqm.1_Intron|TMEM180_uc001kvu.2_Missense_Mutation_p.F189L	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	transmembrane protein 180	189						integral to membrane				ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AGGAGGATTTCTCCTCCTTCC	0.622													G	104230737	C	G	104230737	3	3	18	1	0	0	0	0	1	0	0	0	16096	912	32	5	577	5	TMEM180	10	104230737	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	5424291	104230737	31304010	163	14179											
TAF5	6877	broad.mit.edu	37	chr10	105146935	105146935	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caataactttataaaaggctCtgggctacagaccactatca	6	10	2	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr10:105146935C>G	uc001kwv.2	+	9	1856	c.1833C>G	c.(1831-1833)CTC>CTG	p.L611L	TAF5_uc010qqq.1_Silent_p.L556L	NM_006951	NP_008882	Q15542	TAF5_HUMAN	TBP-associated factor 5	611	WD 3.				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)	2		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ATAAAAGGCTCTGGGCTACAG	0.353													G	105146935	C	G	105146935	2	3	18	1	0	0	0	0	0	0	0	1	15525	900	32	5		5	TAF5	10	105146935	Silent	SNP	C	TCGA-BR-4357-01A-01D-1158-08	916198	105146935	30387812	164	14180											
NEURL	9148	broad.mit.edu	37	chr10	105331460	105331461	+	Frame_Shift_Ins	INS	-	-	T													tgggtggacaagaagggccgINStgtcttccaccgcatcaacg					rs145249495	byFrequency	TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr10:105331459_105331460C>CT	uc001kxh.3	+	2	939_940	c.529_530C>CT	c.(529-531)cgtfs	p.R177fs	NEURL_uc021pxn.1_Frame_Shift_Ins_p.R160fs	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	177	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CAAGAAGGGCCGTGTCTTCCAC	0.634													T	105331461	-	T	105331460	7	5	18	1	0	1	1	0	0	0	0	0	10345	1145	40	0	540	0	NEURL	10	105331460	Frame_Shift_Ins	INS	-	TCGA-BR-4357-01A-01D-1158-08	184525	105331460	30203287	165	14181											
ZDHHC6	64429	broad.mit.edu	37	chr10	114205154	114205154	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacacagtctctttaattctTgtagattttcaaacttgata	5	7	3	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr10:114205154T>C	uc001kzv.2	-	2	465	c.41A>G	c.(40-42)CAA>CGA	p.Q14R	VTI1A_uc001kzy.2_5'Flank|VTI1A_uc001kzz.2_5'Flank|ZDHHC6_uc001kzw.2_Missense_Mutation_p.Q14R|ZDHHC6_uc009xya.1_Missense_Mutation_p.Q14R|VTI1A_uc001kzx.2_5'Flank	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	14						integral to membrane	acyltransferase activity|zinc ion binding				0		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		CTTTAATTCTTGTAGATTTTC	0.393													C	114205154	T	C	114205154	3	2	18	1	0	0	0	0	1	0	0	0	17616	1812	63	3	1240	3	ZDHHC6	10	114205154	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	8873694	114205154	21329593	166	14182											
TRUB1	142940	broad.mit.edu	37	chr10	116735016	116735016	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctcttgagcattgctcatctCttttcccagcagagttggca	8	12	3	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr10:116735016C>G	uc001lcd.2	+	8	989	c.928C>G	c.(928-930)CTT>GTT	p.L310V	TRUB1_uc010qsl.1_Missense_Mutation_p.L212V	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase homolog 1	310					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding				0		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TTGCTCATCTCTTTTCCCAGC	0.408													G	116735016	C	G	116735016	3	3	18	1	0	0	0	0	1	0	0	0	16599	913	32	5	958	5	TRUB1	10	116735016	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	2529862	116735016	18799731	167	14183											
PTPRE	5791	broad.mit.edu	37	chr10	129868079	129868079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtaatcagcgccctcagatGgttcaaacggatgtgagtca	11	10	4	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr10:129868079G>A	uc001lkb.2	+	13	1410	c.1131G>A	c.(1129-1131)ATG>ATA	p.M377I	PTPRE_uc009yat.2_Missense_Mutation_p.M388I|PTPRE_uc009yau.2_Missense_Mutation_p.M377I|PTPRE_uc001lkd.2_Missense_Mutation_p.M319I|PTPRE_uc010quq.1_Missense_Mutation_p.M278I	NM_006504	NP_006495	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	377	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(1)	1		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GCCCTCAGATGGTTCAAACGG	0.537											OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	129868079	G	A	129868079	3	1	18	1	0	0	0	0	1	0	0	0	12800	1348	47	4	1212	4	PTPRE	10	129868079	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	13133063	129868079	5666668	168	14184											
RNH1	6050	broad.mit.edu	37	chr11	500634	500634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccttgcaccgtgcttccGtgaggccacagtcgtccagc	11	15	0	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr11:500634G>A	uc001lpk.1	-	2	1530	c.122C>T	c.(121-123)ACG>ATG	p.T41M	RNH1_uc001lpl.1_Missense_Mutation_p.T41M|RNH1_uc001lpm.1_Missense_Mutation_p.T41M|RNH1_uc001lpn.1_Missense_Mutation_p.T41M|RNH1_uc001lpo.1_Missense_Mutation_p.T41M|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Missense_Mutation_p.T41M|RNH1_uc001lpt.1_Translation_Start_Site|RNH1_uc001lpq.1_Missense_Mutation_p.T41M|RNH1_uc001lpr.1_Missense_Mutation_p.T41M|RNH1_uc001lps.1_Missense_Mutation_p.T41M|RNH1_uc009ybx.1_Missense_Mutation_p.T41M	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	41	LRR 1.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGTGCTTCCGTGAGGCCACA	0.627													A	500634	G	A	500634	3	1	18	1	0	0	0	0	1	0	0	0	13504	1145	40	1	1295	1	RNH1	11	500634	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08		500634	134505882	169	14185											
EIF4G2	1982	broad.mit.edu	37	chr11	10822090	10822090	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agtgacaggatgattactttGcttaacatctcaggaagaaa	9	6	1	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr11:10822090G>C	uc001mjc.2	-	17	2166	c.1749C>G	c.(1747-1749)AGC>AGG	p.S583R	EIF4G2_uc001mjb.2_Missense_Mutation_p.S377R|EIF4G2_uc009ygf.2_Missense_Mutation_p.S377R|EIF4G2_uc001mjd.2_Missense_Mutation_p.S545R	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	583	MI.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGATTACTTTGCTTAACATCT	0.383													C	10822090	G	C	10822090	3	2	18	1	0	0	0	0	1	0	0	0	5037	1310	46	5	998	5	EIF4G2	11	10822090	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	10321456	10822090	124184426	170	14186											
NAT10	55226	broad.mit.edu	37	chr11	34160817	34160817	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaccagggaggctggcTtgcagccttctggaaaggtg	17	9	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr11:34160817T>C	uc001mvk.2	+	22	2535	c.2291T>C	c.(2290-2292)CTT>CCT	p.L764P	NAT10_uc010ren.1_Missense_Mutation_p.L692P	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 isoform a	764	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GGAGGCTGGCTTGCAGCCTTC	0.572													C	34160817	T	C	34160817	3	2	18	1	0	0	0	0	1	0	0	0	10174	1609	56	3	2373	3	NAT10	11	34160817	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	23338727	34160817	100845699	171	14187											
CAT	847	broad.mit.edu	37	chr11	34477709	34477709	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcatgacatttaatcAggcagaaacttttccattta	6	9	2	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr11:34477709A>G	uc001mvm.2	+	7	946	c.863A>G	c.(862-864)CAG>CGG	p.Q288R	CAT_uc009ykc.1_RNA	NM_001752	NP_001743	P04040	CATA_HUMAN	catalase	288					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ACATTTAATCAGGCAGAAACT	0.388													G	34477709	A	G	34477709	3	3	18	1	0	0	0	0	1	0	0	0	2686	188	7	3	889	3	CAT	11	34477709	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	316892	34477709	100528807	172	14188											
EXT2	2132	broad.mit.edu	37	chr11	44148397	44148397	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtggttcttcgtggagCtcggctgggccaggcagtat	16	9	1	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr11:44148397C>A	uc001mxz.2	+	6	1305	c.971C>A	c.(970-972)GCT>GAT	p.A324D	EXT2_uc010rfo.1_Missense_Mutation_p.A352D|EXT2_uc001mxy.2_Missense_Mutation_p.A337D|EXT2_uc009ykt.2_Missense_Mutation_p.A324D|EXT2_uc001mya.2_Missense_Mutation_p.A357D	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	324	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			lung(2)|breast(2)|skin(1)	5						CTTCGTGGAGCTCGGCTGGGC	0.478			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses				A	44148397	C	A	44148397	3	1	18	1	0	0	0	0	1	0	0	0	5324	797	28	5	1092	5	EXT2	11	44148397	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	9670688	44148397	90858119	173	14189											
OR5M10	390167	broad.mit.edu	37	chr11	56345186	56345186	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcactatggtgtggttTggggacaacatcttcttatt	10	7	4	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr11:56345186T>C	uc001niz.1	-	1	12	c.12A>G	c.(10-12)CCA>CCG	p.P4P		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	4	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGGTGTGGTTTGGGGACAACA	0.388													C	56345186	T	C	56345186	2	2	18	1	0	0	0	0	0	0	0	1	11173	1799	63	3		3	OR5M10	11	56345186	Silent	SNP	T	TCGA-BR-4357-01A-01D-1158-08	12196789	56345186	78661330	174	14190											
DDB1	1642	broad.mit.edu	37	chr11	61097044	61097044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgccggtctctgaggggcGgccaatgcggtcctgagaaa	15	10	1	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr11:61097044G>A	uc001nrc.3	-	4	566	c.340C>T	c.(340-342)CGC>TGC	p.R114C	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.R114C|DDB1_uc010rlg.1_5'Flank|DDB1_uc001nrd.2_Missense_Mutation_p.R114C|DDB1_uc009ynl.1_Intron	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	114	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						TCTGAGGGGCGGCCAATGCGG	0.502								NER					A	61097044	G	A	61097044	3	1	18	1	0	0	0	0	1	0	0	0	4323	1116	39	1	3178	1	DDB1	11	61097044	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	4751858	61097044	73909472	175	14191											
SLC22A10	387775	broad.mit.edu	37	chr11	63058038	63058038	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttcgaccattgtgactaAggtaaagggtcctgttaacc	9	11	0	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr11:63058038A>C	uc009yor.2	+	1	609	c.401A>C	c.(400-402)AAG>ACG	p.K134T	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Missense_Mutation_p.K82T	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	134	Extracellular (Potential).					integral to membrane	transmembrane transporter activity			ovary(2)	2						ATTGTGACTAAGGTAAAGGGT	0.433													C	63058038	A	C	63058038	3	2	18	1	0	0	0	0	1	0	0	0	14441	86	3	5	403	5	SLC22A10	11	63058038	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	1960994	63058038	71948478	176	14192											
PCNXL3	399909	broad.mit.edu	37	chr11	65385537	65385537	+	Missense_Mutation	SNP	C	C	T													tgggagcagcatggctgacaCtcccatgagccccctgctga							TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr11:65385537C>T	uc001oey.2	+	6	704	c.704C>T	c.(703-705)ACT>ATT	p.T235I		NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	235						integral to membrane					0						ATGGCTGACACTCCCATGAGC	0.647													T	65385537	C	T	65385537	3	4	18	1	0	0	0	0	1	0	0	0	11593	565	20	4	726	4	PCNXL3	11	65385537	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	2327499	65385537	69620979	177	14193	48	2									
PCNXL3	399909	broad.mit.edu	37	chr11	65385540	65385540	+	Missense_Mutation	SNP	C	C	A													gagcagcatggctgacactcCcatgagccccctgctgaagg							TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr11:65385540C>A	uc001oey.2	+	6	707	c.707C>A	c.(706-708)CCC>CAC	p.P236H		NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	236						integral to membrane					0						GCTGACACTCCCATGAGCCCC	0.642													A	65385540	C	A	65385540	3	1	18	1	0	0	0	0	1	0	0	0	11593	623	22	5	729	5	PCNXL3	11	65385540	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	3	65385540	69620976	178	14194	48	2									
CLCF1	23529	broad.mit.edu	37	chr11	67132822	67132822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctggggcagtgggtagcCcagagctgccatgacgcccg	17	13	0	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr11:67132822C>T	uc001okq.2	-	3	659	c.463G>A	c.(463-465)GGC>AGC	p.G155S	LOC100130987_uc010rpo.1_Intron|CLCF1_uc010rpp.1_Missense_Mutation_p.G145S	NM_013246	NP_037378	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1 precursor	155					B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity				0			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			AGTGGGTAGCCCAGAGCTGCC	0.667													T	67132822	C	T	67132822	3	4	18	1	0	0	0	0	1	0	0	0	3461	623	22	4	218	4	CLCF1	11	67132822	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	1747282	67132822	67873694	179	14195											
ME3	10873	broad.mit.edu	37	chr11	86158244	86158244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggctcctgcgatggcagCaacacctacagggaaaaggc	13	11	0	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr11:86158244C>T	uc001pbz.2	-	11	1497	c.1243G>A	c.(1243-1245)GCT>ACT	p.A415T	ME3_uc001pca.2_Missense_Mutation_p.A415T|ME3_uc009yvk.2_Missense_Mutation_p.A415T	NM_001014811	NP_001014811	Q16798	MAON_HUMAN	mitochondrial malic enzyme 3 precursor	415					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			ovary(1)	1		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GCGATGGCAGCAACACCTACA	0.567													T	86158244	C	T	86158244	3	4	18	1	0	0	0	0	1	0	0	0	9419	710	25	2	587	2	ME3	11	86158244	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	19025422	86158244	48848272	180	14196											
TYR	7299	broad.mit.edu	37	chr11	88911583	88911583	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactatgtcatccccataggGacctatggccaaatgaaaaa	8	10	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr11:88911583G>A	uc001pcs.2	+	1	544	c.462G>A	c.(460-462)GGG>GGA	p.G154G		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	154	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TCCCCATAGGGACCTATGGCC	0.408									Oculocutaneous_Albinism				A	88911583	G	A	88911583	2	1	18	1	0	0	0	0	0	0	0	1	16810	1161	41	4		4	TYR	11	88911583	Silent	SNP	G	TCGA-BR-4357-01A-01D-1158-08	2753339	88911583	46094933	181	14197											
DYNC2H1	79659	broad.mit.edu	37	chr11	103027360	103027360	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaagtatcaatttgggaaAgaaaacttgcagagttagat	9	3	1	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr11:103027360A>G	uc001pho.2	+	26	4132	c.3988A>G	c.(3988-3990)AGA>GGA	p.R1330G	DYNC2H1_uc001phn.1_Missense_Mutation_p.R1330G|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1330	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AATTTGGGAAAGAAAACTTGC	0.353													G	103027360	A	G	103027360	3	3	18	1	0	0	0	0	1	0	0	0	4846	64	3	3	4090	3	DYNC2H1	11	103027360	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	14115777	103027360	31979156	182	14198											
AMICA1	120425	broad.mit.edu	37	chr11	118071269	118071269	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcacagacaattcccacaatGatcaccaactgattaccacc	4	15	1	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr11:118071269G>C	uc001psk.2	-	7	1005	c.831C>G	c.(829-831)ATC>ATG	p.I277M	AMICA1_uc001psg.2_Missense_Mutation_p.I87M|AMICA1_uc001psh.2_Missense_Mutation_p.I238M|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.I267M|AMICA1_uc001psj.2_Missense_Mutation_p.I266M|AMICA1_uc010rxw.1_Missense_Mutation_p.I238M|AMICA1_uc010rxx.1_Missense_Mutation_p.I277M|AMICA1_uc001psl.1_Missense_Mutation_p.I233M	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen	277	Helical; (Potential).				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				ovary(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TTCCCACAATGATCACCAACT	0.512													C	118071269	G	C	118071269	3	2	18	1	0	0	0	0	1	0	0	0	574	1280	45	5	369	5	AMICA1	11	118071269	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	15043909	118071269	16935247	183	14199											
FOXRED1	55572	broad.mit.edu	37	chr11	126147540	126147540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagccccttcctctttaccCgcttttacttgggagagaag	9	12	1	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr11:126147540C>T	uc001qdi.2	+	11	1464	c.1417C>T	c.(1417-1419)CGC>TGC	p.R473C	FOXRED1_uc010sbn.1_Missense_Mutation_p.R303C|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_Missense_Mutation_p.R286C|FOXRED1_uc010sbq.1_Missense_Mutation_p.R340C|FOXRED1_uc001qdj.2_Missense_Mutation_p.R262C|FOXRED1_uc010sbr.1_Missense_Mutation_p.R459C|FOXRED1_uc001qdk.2_Missense_Mutation_p.R262C	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing	473						integral to membrane|mitochondrion	oxidoreductase activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		CCTCTTTACCCGCTTTTACTT	0.567													T	126147540	C	T	126147540	3	4	18	1	0	0	0	0	1	0	0	0	6033	652	23	1	1459	1	FOXRED1	11	126147540	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	8076271	126147540	8858976	184	14200											
KIRREL3	84623	broad.mit.edu	37	chr11	126396494	126396494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccacagaacgaagccatcGtattcggggatggcgcaaag	12	10	0	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr11:126396494G>A	uc001qea.2	-	3	583	c.222C>T	c.(220-222)TAC>TAT	p.Y74Y	KIRREL3_uc001qeb.2_Silent_p.Y74Y|KIRREL3_uc001qec.1_Silent_p.Y74Y	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	74	Ig-like C2-type 1.|Extracellular (Potential).				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CGAAGCCATCGTATTCGGGGA	0.617													A	126396494	G	A	126396494	2	1	18	1	0	0	0	0	0	0	0	1	8326	1140	40	1		1	KIRREL3	11	126396494	Silent	SNP	G	TCGA-BR-4357-01A-01D-1158-08	248954	126396494	8610022	185	14201											
WNK1	65125	broad.mit.edu	37	chr12	994221	994221	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgtagtttcaagtatcacAatacctgcagttgtctcaat	7	9	3	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr12:994221A>G	uc001qio.3	+	19	4758	c.4251A>G	c.(4249-4251)ACA>ACG	p.T1417T	WNK1_uc001qip.3_Silent_p.T1170T|WNK1_uc001qir.3_Silent_p.T590T	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1417					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAAGTATCACAATACCTGCAG	0.478													G	994221	A	G	994221	2	3	18	1	0	0	0	0	0	0	0	1	17374	117	5	3		3	WNK1	12	994221	Silent	SNP	A	TCGA-BR-4357-01A-01D-1158-08		994221	132857674	186	14202											
CACNA1C	775	broad.mit.edu	37	chr12	2558191	2558191	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttacggtggaagcgttttTaaaagtaatcgcctatggac	10	6	0	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr12:2558191T>A	uc009zdu.1	+	4	840	c.527T>A	c.(526-528)TTA>TAA	p.L176*	CACNA1C_uc009zdv.1_Nonsense_Mutation_p.L176*|CACNA1C_uc001qkb.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qkc.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qke.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qkf.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qjz.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qkd.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qkg.2_Nonsense_Mutation_p.L176*|CACNA1C_uc009zdw.1_Nonsense_Mutation_p.L176*|CACNA1C_uc001qkh.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qkl.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qkn.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qko.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qkp.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qkr.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qku.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qkq.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qks.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qkt.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR|CACNA1C_uc001qkj.1_5'UTR|CACNA1C_uc001qkk.1_5'UTR|CACNA1C_uc001qkm.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	176	I.|Helical; Name=S2 of repeat I; (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GAAGCGTTTTTAAAAGTAATC	0.398													A	2558191	T	A	2558191	4	1	18	1	0	0	0	0	0	1	0	0	2540	1764	61	5	541	5	CACNA1C	12	2558191	Nonsense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	1563970	2558191	131293704	187	14203											
IFFO1	25900	broad.mit.edu	37	chr12	6658964	6658964	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgcagttgcgctgctgagcCacatcgcagagcttggcggt	14	12	0	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr12:6658964C>A	uc001qpd.1	-	4	1063	c.1029G>T	c.(1027-1029)GTG>GTT	p.V343V	IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_5'Flank|IFFO1_uc001qpb.1_Silent_p.V20V|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Silent_p.V343V|IFFO1_uc001qpf.1_Silent_p.V343V|IFFO1_uc001qoz.1_5'Flank|IFFO1_uc001qpc.1_Silent_p.V343V|IFFO1_uc001qpg.2_5'Flank	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan isoform 2	343						intermediate filament					0						GCTGCTGAGCCACATCGCAGA	0.597													A	6658964	C	A	6658964	2	1	18	1	0	0	0	0	0	0	0	1	7510	581	21	5		5	IFFO1	12	6658964	Silent	SNP	C	TCGA-BR-4357-01A-01D-1158-08	4100773	6658964	127192931	188	14204											
NANOG	79923	broad.mit.edu	37	chr12	7945604	7945604	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacagccctgattcttccacCagtcccaaaggcaaacaacc	6	16	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr12:7945604C>G	uc009zfy.1	+	2	426	c.210C>G	c.(208-210)ACC>ACG	p.T70T		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Nanog homeobox	70					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				Kidney(36;0.0872)		ATTCTTCCACCAGTCCCAAAG	0.443													G	7945604	C	G	7945604	2	3	18	1	0	0	0	0	0	0	0	1	10150	581	21	5		5	NANOG	12	7945604	Silent	SNP	C	TCGA-BR-4357-01A-01D-1158-08	1286640	7945604	125906291	189	14205											
CLEC1B	51266	broad.mit.edu	37	chr12	10150965	10150965	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcacacgccaccaggaggAggatgcagagccaactgtag	12	12	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr12:10150965A>C	uc001qwu.2	-	2	279	c.79T>G	c.(79-81)TCC>GCC	p.S27A	CLEC1B_uc009zhd.2_Intron	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B isoform	27	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity				0						CACCAGGAGGAGGATGCAGAG	0.557													C	10150965	A	C	10150965	3	2	18	1	0	0	0	0	1	0	0	0	3506	304	11	5	630	5	CLEC1B	12	10150965	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	2205361	10150965	123700930	190	14206											
KIAA1467	57613	broad.mit.edu	37	chr12	13221366	13221366	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accttactgggcattgagacTtcaaggcctgcgcaggtttg	12	10	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr12:13221366T>G	uc001rbi.2	+	8	1294	c.1271T>G	c.(1270-1272)CTT>CGT	p.L424R	KIAA1467_uc009zhx.1_RNA	NM_020853	NP_065904	A2RU67	K1467_HUMAN	hypothetical protein LOC57613	424						integral to membrane				central_nervous_system(2)|skin(1)	3		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GCATTGAGACTTCAAGGCCTG	0.458													G	13221366	T	G	13221366	3	3	18	1	0	0	0	0	1	0	0	0	8235	1609	56	5	1301	5	KIAA1467	12	13221366	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	3070401	13221366	120630529	191	14207											
ABCC9	10060	broad.mit.edu	37	chr12	21962818	21962818	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtagagatttgaccatattcTtcagctgagcaatttctaag	8	7	3	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr12:21962818T>A	uc001rfi.1	-	35	4303	c.4283A>T	c.(4282-4284)AAG>ATG	p.K1428M	ABCC9_uc001rfh.2_Missense_Mutation_p.K1428M|ABCC9_uc001rfj.1_Missense_Mutation_p.K1392M|ABCC9_uc001rfg.2_5'Flank	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1428	Cytoplasmic (Potential).|ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GACCATATTCTTCAGCTGAGC	0.333													A	21962818	T	A	21962818	3	1	18	1	0	0	0	0	1	0	0	0	59	1609	56	5	524	5	ABCC9	12	21962818	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	8741452	21962818	111889077	192	14208											
ABCC9	10060	broad.mit.edu	37	chr12	21970208	21970208	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggacctccaggtcagccaAgttcctcacaacccaattca	6	16	3	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr12:21970208A>T	uc001rfi.1	-	31	3825	c.3805T>A	c.(3805-3807)TTG>ATG	p.L1269M	ABCC9_uc001rfh.2_Missense_Mutation_p.L1269M|ABCC9_uc001rfj.1_Missense_Mutation_p.L1233M	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1269	Cytoplasmic (Potential).|ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGGTCAGCCAAGTTCCTCACA	0.383													T	21970208	A	T	21970208	3	4	18	1	0	0	0	0	1	0	0	0	59	69	3	5	1018	5	ABCC9	12	21970208	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	7390	21970208	111881687	193	14209											
CNTN1	1272	broad.mit.edu	37	chr12	41333276	41333276	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaagggacagagtggcttgtCaatagcagcaggtcagtgct	14	7	2	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr12:41333276C>G	uc001rmm.1	+	12	1481	c.1368C>G	c.(1366-1368)GTC>GTG	p.V456V	CNTN1_uc009zjy.1_Silent_p.V456V|CNTN1_uc001rmn.1_Silent_p.V445V|CNTN1_uc001rmo.2_Silent_p.V456V	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	456	Ig-like C2-type 5.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGTGGCTTGTCAATAGCAGCA	0.363													G	41333276	C	G	41333276	2	3	18	1	0	0	0	0	0	0	0	1	3640	813	29	5		5	CNTN1	12	41333276	Silent	SNP	C	TCGA-BR-4357-01A-01D-1158-08	19363068	41333276	92518619	194	14210											
PDZRN4	29951	broad.mit.edu	37	chr12	41900462	41900462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatggctctggccaagcttCgtccacctacccctccagtg	8	17	2	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr12:41900462C>T	uc010skn.1	+	4	519	c.451C>T	c.(451-453)CGT>TGT	p.R151C	PDZRN4_uc001rmq.3_Missense_Mutation_p.R92C|PDZRN4_uc009zjz.2_Missense_Mutation_p.R90C|PDZRN4_uc001rmr.2_5'Flank	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	350							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GGCCAAGCTTCGTCCACCTAC	0.488													T	41900462	C	T	41900462	3	4	18	1	0	0	0	0	1	0	0	0	11710	884	31	1	1135	1	PDZRN4	12	41900462	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	567186	41900462	91951433	195	14211											
SLC38A4	55089	broad.mit.edu	37	chr12	47172136	47172136	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aaaagcaaatactaggatagGaattgcataggccgtctgaa	10	6	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr12:47172136G>C	uc001rpi.2	-	12	1408	c.1009C>G	c.(1009-1011)CCT>GCT	p.P337A	SLC38A4_uc001rpj.2_Missense_Mutation_p.P337A	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	337	Helical; (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Lung SC(27;0.192)|Renal(347;0.236)					ACTAGGATAGGAATTGCATAG	0.393													C	47172136	G	C	47172136	3	2	18	1	0	0	0	0	1	0	0	0	14606	1174	41	5	658	5	SLC38A4	12	47172136	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	5271674	47172136	86679759	196	14212											
TMEM106C	79022	broad.mit.edu	37	chr12	48361948	48361948	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatttcatacattggcctcaTgacccagagctccttggaga	9	11	2	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr12:48361948T>A	uc001rqp.2	+	8	804	c.689T>A	c.(688-690)ATG>AAG	p.M230K	TMEM106C_uc001rqo.2_Missense_Mutation_p.M211K|TMEM106C_uc001rqr.2_Missense_Mutation_p.M230K|TMEM106C_uc001rqq.2_Missense_Mutation_p.M211K	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN	transmembrane protein 106C isoform a	230						endoplasmic reticulum membrane|integral to membrane					0		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		ATTGGCCTCATGACCCAGAGC	0.413													A	48361948	T	A	48361948	3	1	18	1	0	0	0	0	1	0	0	0	16019	1464	51	5	715	5	TMEM106C	12	48361948	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	1189812	48361948	85489947	197	14213											
KRT72	140807	broad.mit.edu	37	chr12	52981470	52981470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgatctccatatccagggCcagcttcaggctcacgagct	11	14	3	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr12:52981470C>T	uc001sar.2	-	7	1341	c.1255G>A	c.(1255-1257)GCC>ACC	p.A419T	KRT72_uc001saq.2_Missense_Mutation_p.A419T|KRT72_uc010sns.1_Missense_Mutation_p.A377T|KRT72_uc010snt.1_Missense_Mutation_p.A231T	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN	keratin 72 isoform 1	419	Coil 2.|Rod.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6				BRCA - Breast invasive adenocarcinoma(357;0.195)		ATATCCAGGGCCAGCTTCAGG	0.642													T	52981470	C	T	52981470	3	4	18	1	0	0	0	0	1	0	0	0	8485	739	26	2	292	2	KRT72	12	52981470	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	4619522	52981470	80870425	198	14214											
KRT18	3875	broad.mit.edu	37	chr12	53346603	53346603	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagtggtgtctgagaccaatGacaccaaagttctgaggcat	11	8	2	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr12:53346603G>T	uc001sbe.2	+	8	1339	c.1270G>T	c.(1270-1272)GAC>TAC	p.D424Y	KRT18_uc009zmn.1_3'UTR|KRT18_uc001sbf.1_3'UTR|KRT18_uc001sbg.2_Missense_Mutation_p.D424Y|KRT18_uc009zmo.2_3'UTR	NM_199187	NP_954657	P05783	K1C18_HUMAN	keratin 18	424	Tail.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			skin(1)	1						TGAGACCAATGACACCAAAGT	0.502													T	53346603	G	T	53346603	3	4	18	1	0	0	0	0	1	0	0	0	8455	1290	45	5	1296	5	KRT18	12	53346603	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	365133	53346603	80505292	199	14215											
ERBB3	2065	broad.mit.edu	37	chr12	56492652	56492652	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagcggttggcacagccccaGatctgcacaattgatgtcta	11	11	2	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr12:56492652G>C	uc001sjh.2	+	23	2995	c.2802G>C	c.(2800-2802)CAG>CAC	p.Q934H	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Missense_Mutation_p.Q291H|ERBB3_uc010sqc.1_Missense_Mutation_p.Q875H|ERBB3_uc009zok.2_Missense_Mutation_p.Q199H|ERBB3_uc001sjk.2_Missense_Mutation_p.Q175H|ERBB3_uc001sjl.2_Missense_Mutation_p.Q54H	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	934	Cytoplasmic (Potential).|Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CACAGCCCCAGATCTGCACAA	0.453													C	56492652	G	C	56492652	3	2	18	1	0	0	0	0	1	0	0	0	5208	933	33	5	3023	5	ERBB3	12	56492652	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	3146049	56492652	77359243	200	14216											
C12orf12	196477	broad.mit.edu	37	chr12	91348107	91348107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccagcgcttcttcctgCctgggggcttcacccagcca	11	18	2	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr12:91348107C>T	uc001tbj.2	-	1	847	c.413G>A	c.(412-414)GGC>GAC	p.G138D		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	138										central_nervous_system(1)|pancreas(1)	2						CTTCTTCCTGCCTGGGGGCTT	0.701													T	91348107	C	T	91348107	3	4	18	1	0	0	0	0	1	0	0	0	1676	739	26	2	811	2	C12orf12	12	91348107	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	34855455	91348107	42503788	201	14217											
NUP37	79023	broad.mit.edu	37	chr12	102471233	102471233	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agataaaatagcctgttgggCcaaaagatcataaaaccgga	9	7	1	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr12:102471233C>G	uc001tjc.2	-	6	654	c.589G>C	c.(589-591)GCC>CCC	p.A197P	NUP37_uc009zub.1_Missense_Mutation_p.A197P	NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	197	WD 3.				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			ovary(1)	1						GCCTGTTGGGCCAAAAGATCA	0.373													G	102471233	C	G	102471233	3	3	18	1	0	0	0	0	1	0	0	0	10764	739	26	5	407	5	NUP37	12	102471233	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	11123126	102471233	31380662	202	14218											
DDX54	79039	broad.mit.edu	37	chr12	113617046	113617046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgtgggtcttgagccgctCgaacattgggaggaggaagc	16	8	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr12:113617046C>T	uc001tup.2	-	4	494	c.466G>A	c.(466-468)GAG>AAG	p.E156K	DDX54_uc001tuq.3_Missense_Mutation_p.E156K	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	156	Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						TTGAGCCGCTCGAACATTGGG	0.652													T	113617046	C	T	113617046	3	4	18	1	0	0	0	0	1	0	0	0	4372	893	31	1	2250	1	DDX54	12	113617046	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	11145813	113617046	20234849	203	14219											
ZNF268	10795	broad.mit.edu	37	chr12	133780428	133780428	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatacatatgagaactcataCaggagagaaaccacatgagt	8	7	1	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr12:133780428C>A	uc010tcf.1	+	6	2486	c.2156C>A	c.(2155-2157)ACA>AAA	p.T719K	ZNF268_uc010tbv.1_Missense_Mutation_p.T558K|ZNF268_uc010tbw.1_Missense_Mutation_p.T558K|ZNF268_uc010tbx.1_Missense_Mutation_p.T579K|ZNF268_uc010tby.1_Missense_Mutation_p.T558K|ZNF268_uc010tbz.1_Missense_Mutation_p.T558K|ZNF268_uc010tca.1_Missense_Mutation_p.T558K|ZNF268_uc010tcb.1_Missense_Mutation_p.T579K|ZNF268_uc010tcc.1_Missense_Mutation_p.T558K|ZNF268_uc010tcd.1_Missense_Mutation_p.T558K|ZNF268_uc010tce.1_Missense_Mutation_p.T558K|ZNF268_uc010tcg.1_Missense_Mutation_p.T558K|ZNF268_uc010tch.1_Missense_Mutation_p.T719K	NM_003415	NP_003406	Q14587	ZN268_HUMAN	zinc finger protein 268 isoform a	719						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AGAACTCATACAGGAGAGAAA	0.418													A	133780428	C	A	133780428	3	1	18	1	0	0	0	0	1	0	0	0	17804	478	17	5		5	ZNF268	12	133780428	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	20163382	133780428	71467	204	14220											
MTUS2	23281	broad.mit.edu	37	chr13	29600629	29600629	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttgccccagtgggatcccCaagcctgtcttcacacattc	7	16	2	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr13:29600629C>A	uc001usl.3	+	1	1882	c.1824C>A	c.(1822-1824)CCC>CCA	p.P608P		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	598						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						GTGGGATCCCCAAGCCTGTCT	0.537													A	29600629	C	A	29600629	2	1	18	1	0	0	0	0	0	0	0	1	9966	581	21	5		5	MTUS2	13	29600629	Silent	SNP	C	TCGA-BR-4357-01A-01D-1158-08		29600629	85569249	205	14221											
STARD13	90627	broad.mit.edu	37	chr13	33700296	33700296	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtcccgttctttggacGtggactatgagaggaacgcc	14	10	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr13:33700296G>C	uc001uuw.2	-	7	2130	c.2004C>G	c.(2002-2004)CAC>CAG	p.H668Q	STARD13_uc001uuu.2_Missense_Mutation_p.H660Q|STARD13_uc001uuv.2_Missense_Mutation_p.H550Q|STARD13_uc001uux.2_Missense_Mutation_p.H633Q|STARD13_uc010tec.1_RNA	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	668	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TTCTTTGGACGTGGACTATGA	0.498													C	33700296	G	C	33700296	3	2	18	1	0	0	0	0	1	0	0	0	15255	1136	40	5	1369	5	STARD13	13	33700296	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	4099667	33700296	81469582	206	14222											
ZC3H13	23091	broad.mit.edu	37	chr13	46542897	46542897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tattacctgaagaagtacttCgactgggttctccacgcttt	8	10	1	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr13:46542897C>T	uc010tfw.1	-	13	3788	c.3782G>A	c.(3781-3783)CGA>CAA	p.R1261Q	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.R1261Q|ZC3H13_uc001vat.1_Missense_Mutation_p.R1261Q	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1261	Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		AGAAGTACTTCGACTGGGTTC	0.348													T	46542897	C	T	46542897	3	4	18	1	0	0	0	0	1	0	0	0	17562	884	31	1	928	1	ZC3H13	13	46542897	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	12842601	46542897	68626981	207	14223											
LMO7	4008	broad.mit.edu	37	chr13	76417012	76417012	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgattcctatgatataccaAagacagaagaagcatcttca	6	8	2	5			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr13:76417012A>G	uc001vjv.2	+	22	4118	c.3358A>G	c.(3358-3360)AAG>GAG	p.K1120E	LMO7_uc010thv.1_Missense_Mutation_p.K1071E|LMO7_uc001vjt.1_Missense_Mutation_p.K1019E|LMO7_uc010thw.1_Missense_Mutation_p.K997E|LMO7_uc001vjw.1_Missense_Mutation_p.K1026E	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	1405						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGATATACCAAAGACAGAAGA	0.343													G	76417012	A	G	76417012	3	3	18	1	0	0	0	0	1	0	0	0	8855	15	1	3	4315	3	LMO7	13	76417012	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	29874115	76417012	38752866	208	14224											
RNF219	79596	broad.mit.edu	37	chr13	79190393	79190393	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gataaacataagcctgatttCtcactcaattttgaagatat	5	7	2	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr13:79190393C>T	uc001vkw.1	-	6	1562	c.1503G>A	c.(1501-1503)GAG>GAA	p.E501E	uc001vku.1_RNA|RNF219_uc010afb.1_Silent_p.E311E|RNF219_uc010afc.2_Intron	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	ring finger protein 219	501	Ser-rich.						zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AGCCTGATTTCTCACTCAATT	0.388													T	79190393	C	T	79190393	2	4	18	1	0	0	0	0	0	0	0	1	13482	912	32	4		4	RNF219	13	79190393	Silent	SNP	C	TCGA-BR-4357-01A-01D-1158-08	2773381	79190393	35979485	209	14225											
ABCC4	10257	broad.mit.edu	37	chr13	95861791	95861791	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctatctccatccagagtaGggcagtcactgcaatcgcct	8	14	2	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr13:95861791G>T	uc001vmd.3	-	6	801	c.682C>A	c.(682-684)CTA>ATA	p.L228I	ABCC4_uc010afk.2_Missense_Mutation_p.L228I|ABCC4_uc001vme.2_Missense_Mutation_p.L228I|ABCC4_uc010tih.1_Missense_Mutation_p.L153I|ABCC4_uc001vmf.2_Missense_Mutation_p.L185I|ABCC4_uc010afl.1_Missense_Mutation_p.L185I|ABCC4_uc010afm.1_Missense_Mutation_p.L241I	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	228	Helical; (Potential).|ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	ATCCAGAGTAGGGCAGTCACT	0.478													T	95861791	G	T	95861791	3	4	18	1	0	0	0	0	1	0	0	0	55	991	35	5	3448	5	ABCC4	13	95861791	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	16671398	95861791	19308087	210	14226											
MYO16	23026	broad.mit.edu	37	chr13	109753232	109753233	+	Nonsense_Mutation	DNP	GC	GC	AG													cagtgtaaattacaaggctgGcaggttggtgacctacaagc							TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr13:109753232_109753233GC>AG	uc001vqt.1	+	28	3495_3496	c.3369_3370GC>AG	c.(3367-3372)TGGCAG>TGAGAG	p.1123_1124WQ>*E	MYO16_uc010agk.1_Nonsense_Mutation_p.1145_1146WQ>*E|MYO16_uc010tjh.1_Nonsense_Mutation_p.635_636WQ>*E	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1123_1124	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TACAAGGCTGGCAGGTTGGTGA	0.446													AG	109753233	GC	AG	109753232	4	1	18	1	0	0	0	0	0	1	0	0	10064	1212	42	2	3475	2	MYO16	13	109753232	Nonsense_Mutation	DNP	GC	TCGA-BR-4357-01A-01D-1158-08	13891441	109753232	5416646	211	14227											
C13orf28	122258	broad.mit.edu	37	chr13	113030779	113030779	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaaactgagctccggccgaGaaccgtgattccaggtaggg	14	10	0	4			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr13:113030779G>T	uc001vsd.1	+	1	111	c.80G>T	c.(79-81)AGA>ATA	p.R27I		NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN	hypothetical protein LOC122258 precursor	27						extracellular region					0	all_lung(23;0.000633)|Lung NSC(43;0.0161)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0997)|Medulloblastoma(90;0.163)					CTCCGGCCGAGAACCGTGATT	0.592													T	113030779	G	T	113030779	3	4	18	1	0	0	0	0	1	0	0	0	1724	942	33	5	82	5	C13orf28	13	113030779	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	3277547	113030779	2139099	212	14228											
OR4K1	79544	broad.mit.edu	37	chr14	20404092	20404092	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtagacttttttattgagcgCaagactatctcctttgaggg	10	7	1	4			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr14:20404092C>A	uc001vwj.1	+	1	267	c.267C>A	c.(265-267)CGC>CGA	p.R89R		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	89	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTATTGAGCGCAAGACTATCT	0.413													A	20404092	C	A	20404092	2	1	18	1	0	0	0	0	0	0	0	1	11067	697	25	5		5	OR4K1	14	20404092	Silent	SNP	C	TCGA-BR-4357-01A-01D-1158-08		20404092	86945448	213	14229											
TOX4	9878	broad.mit.edu	37	chr14	21960502	21960502	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagagtatctgaaggcActggctgcttacaaagacaa	10	7	1	4			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr14:21960502A>C	uc001waz.2	+	6	961	c.858A>C	c.(856-858)GCA>GCC	p.A286A	TOX4_uc001way.2_Silent_p.A156A|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Silent_p.A263A|TOX4_uc010tlv.1_Silent_p.A156A	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	286	HMG box.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			ovary(1)	1	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		ATCTGAAGGCACTGGCTGCTT	0.373													C	21960502	A	C	21960502	2	2	18	1	0	0	0	0	0	0	0	1	16377	146	6	5		5	TOX4	14	21960502	Silent	SNP	A	TCGA-BR-4357-01A-01D-1158-08	1556410	21960502	85389038	214	14230											
OR4E2	26686	broad.mit.edu	37	chr14	22133415	22133415	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catttatatgctaacgctttCagggaacattctcatcatca	5	10	4	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr14:22133415C>T	uc010tmd.1	+	1	119	c.119C>T	c.(118-120)TCA>TTA	p.S40L		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CTAACGCTTTCAGGGAACATT	0.433													T	22133415	C	T	22133415	3	4	18	1	0	0	0	0	1	0	0	0	11060	838	29	4	121	4	OR4E2	14	22133415	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	172913	22133415	85216125	215	14231											
FERMT2	10979	broad.mit.edu	37	chr14	53360060	53360060	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattcaagtgcctcatcttcAgactggtcatctagcttctt	6	11	7	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr14:53360060A>G	uc001xad.2	-	4	532	c.477T>C	c.(475-477)TCT>TCC	p.S159S	FERMT2_uc001xac.2_Silent_p.S159S|FERMT2_uc001xae.2_Silent_p.S159S|FERMT2_uc001xaf.2_Silent_p.S159S	NM_006832	NP_006823	Q96AC1	FERM2_HUMAN	fermitin family homolog 2 isoform 1	159					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding				0	Breast(41;0.0342)					CCTCATCTTCAGACTGGTCAT	0.398													G	53360060	A	G	53360060	2	3	18	1	0	0	0	0	0	0	0	1	5818	175	7	3		3	FERMT2	14	53360060	Silent	SNP	A	TCGA-BR-4357-01A-01D-1158-08	31226645	53360060	53989480	216	14232											
EIF2S1	1965	broad.mit.edu	37	chr14	67831719	67831719	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgtcattagggtggacaaaGaaaaaggtaagtgagaaaaa	12	2	1	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr14:67831719G>C	uc001xjg.2	+	2	376	c.235G>C	c.(235-237)GAA>CAA	p.E79Q		NM_004094	NP_004085	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2,	79	S1 motif.					cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity			ovary(1)	1				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		GGTGGACAAAGAAAAAGGTAA	0.318													C	67831719	G	C	67831719	3	2	18	1	0	0	0	0	1	0	0	0	5009	943	33	5	237	5	EIF2S1	14	67831719	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	14471659	67831719	39517821	217	14233											
PCNX	22990	broad.mit.edu	37	chr14	71495432	71495432	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctagccactacaagcctgcTtgcagcactttacagtttta	6	12	1	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr14:71495432T>A	uc001xmo.2	+	16	3928	c.3482T>A	c.(3481-3483)CTT>CAT	p.L1161H	PCNX_uc010are.1_Missense_Mutation_p.L1050H|PCNX_uc010arf.1_Missense_Mutation_p.L21H	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1161	Helical; (Potential).					integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ACAAGCCTGCTTGCAGCACTT	0.303													A	71495432	T	A	71495432	3	1	18	1	0	0	0	0	1	0	0	0	11591	1609	56	5	3544	5	PCNX	14	71495432	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	3663713	71495432	35854108	218	14234											
KIAA1409	57578	broad.mit.edu	37	chr14	94060180	94060180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggaagatgaggtttgaaGcaggtacctctgtgttagct	13	6	1	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr14:94060180G>A	uc001ybv.1	+	20	2739	c.2656G>A	c.(2656-2658)GCA>ACA	p.A886T	KIAA1409_uc001ybs.1_Missense_Mutation_p.A886T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1063						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		GAGGTTTGAAGCAGGTACCTC	0.463													A	94060180	G	A	94060180	3	1	18	1	0	0	0	0	1	0	0	0	8230	971	34	2	2734	2	KIAA1409	14	94060180	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	22564748	94060180	13289360	219	14235											
ATG2B	55102	broad.mit.edu	37	chr14	96797882	96797882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtggagataaaggatcaaTgtgaagcacagagattgaaa	13	3	1	4			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr14:96797882T>C	uc001yfi.2	-	11	1926	c.1561A>G	c.(1561-1563)ATT>GTT	p.I521V		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	521										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AAAGGATCAATGTGAAGCACA	0.388													C	96797882	T	C	96797882	3	2	18	1	0	0	0	0	1	0	0	0	1094	1464	51	3	4803	3	ATG2B	14	96797882	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	2737702	96797882	10551658	220	14236											
GABRB3	2562	broad.mit.edu	37	chr15	26793220	26793220	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatcgccaatgccgcctgagAcctcattcatttcattgtga	7	12	3	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr15:26793220A>T	uc001zaz.2	-	9	1284	c.1142T>A	c.(1141-1143)GTC>GAC	p.V381D	GABRB3_uc010uae.1_Missense_Mutation_p.V296D|GABRB3_uc001zba.2_Missense_Mutation_p.V381D|GABRB3_uc001zbb.2_Missense_Mutation_p.V437D	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	381	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCCGCCTGAGACCTCATTCAT	0.473													T	26793220	A	T	26793220	3	4	18	1	0	0	0	0	1	0	0	0	6168	275	10	5	283	5	GABRB3	15	26793220	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08		26793220	75738172	221	14237											
RYR3	6263	broad.mit.edu	37	chr15	34049680	34049680	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgcgtttcccaggttcTcctcccgctggttgaccagt	11	14	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr15:34049680T>C	uc001zhi.2	+	60	8658	c.8588T>C	c.(8587-8589)CTC>CCC	p.L2863P	RYR3_uc010bar.2_Missense_Mutation_p.L2863P	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2863	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCCAGGTTCTCCTCCCGCTG	0.463													C	34049680	T	C	34049680	3	2	18	1	0	0	0	0	1	0	0	0	13770	1551	54	3	8826	3	RYR3	15	34049680	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	7256460	34049680	68481712	222	14238											
TTBK2	146057	broad.mit.edu	37	chr15	43045268	43045268	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagccccaaatctgttctgcTtcctccactaggaggttcac	7	14	3	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr15:43045268T>C	uc001zqo.2	-	14	2615	c.2176A>G	c.(2176-2178)AGC>GGC	p.S726G	TTBK2_uc010bcy.2_Missense_Mutation_p.S657G	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	726					cell death		ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TCTGTTCTGCTTCCTCCACTA	0.458													C	43045268	T	C	43045268	3	2	18	1	0	0	0	0	1	0	0	0	16674	1609	56	3	1566	3	TTBK2	15	43045268	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	8995588	43045268	59486124	223	14239											
SEMA6D	80031	broad.mit.edu	37	chr15	48062707	48062707	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttcaggtgtacgatgggaAgtccagtctggagagtccaa	13	7	2	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr15:48062707A>G	uc010bek.2	+	19	2307	c.1947A>G	c.(1945-1947)GAA>GAG	p.E649E	SEMA6D_uc001zvw.2_Silent_p.E587E|SEMA6D_uc001zvy.2_Silent_p.E649E|SEMA6D_uc001zvz.2_Silent_p.E593E|SEMA6D_uc001zwa.2_Missense_Mutation_p.K586R|SEMA6D_uc001zwb.2_Silent_p.E587E|SEMA6D_uc001zwc.2_Silent_p.E574E	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	649	Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TACGATGGGAAGTCCAGTCTG	0.438													G	48062707	A	G	48062707	2	3	18	1	0	0	0	0	0	0	0	1	14042	72	3	3		3	SEMA6D	15	48062707	Silent	SNP	A	TCGA-BR-4357-01A-01D-1158-08	5017439	48062707	54468685	224	14240											
KIAA1199	57214	broad.mit.edu	37	chr15	81176529	81176529	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttaggtttgacacctatAgatccaagaaagagagtgaa	9	5	0	5			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr15:81176529A>G	uc002bfw.1	+	6	891	c.631A>G	c.(631-633)AGA>GGA	p.R211G	KIAA1199_uc010unn.1_Missense_Mutation_p.R211G	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	211										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						TGACACCTATAGATCCAAGAA	0.473													G	81176529	A	G	81176529	3	3	18	1	0	0	0	0	1	0	0	0	8213	412	15	3	649	3	KIAA1199	15	81176529	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	33113822	81176529	21354863	225	14241											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84488751	84488751	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctaaggtactggatggaacTcgttgcaacacggactcctt	10	11	0	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr15:84488751T>G	uc002bjz.3	+	6	776	c.552T>G	c.(550-552)ACT>ACG	p.T184T	ADAMTSL3_uc002bjy.1_Silent_p.T184T|ADAMTSL3_uc010bmt.1_Silent_p.T184T|ADAMTSL3_uc010bmu.1_Silent_p.T184T	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	184						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGATGGAACTCGTTGCAACA	0.522													G	84488751	T	G	84488751	2	3	18	1	0	0	0	0	0	0	0	1	276	1538	54	5		5	ADAMTSL3	15	84488751	Silent	SNP	T	TCGA-BR-4357-01A-01D-1158-08	3312222	84488751	18042641	226	14242											
ABCA3	21	broad.mit.edu	37	chr16	2347452	2347452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggtcagcacgatggtgCggtcacttttctgccgctga	15	10	3	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr16:2347452C>T	uc002cpy.1	-	17	2853	c.2141G>A	c.(2140-2142)CGC>CAC	p.R714H	ABCA3_uc010bsk.1_Missense_Mutation_p.R656H|ABCA3_uc010bsl.1_Missense_Mutation_p.R714H	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	714	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				CACGATGGTGCGGTCACTTTT	0.632													T	2347452	C	T	2347452	3	4	18	1	0	0	0	0	1	0	0	0	33	768	27	1	3041	1	ABCA3	16	2347452	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08		2347452	88007301	227	14243											
CLEC16A	23274	broad.mit.edu	37	chr16	11114066	11114066	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccagagatcgagatggtgatCatggagcgtagcaagctctc	13	9	2	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr16:11114066C>T	uc002dao.2	+	12	1550	c.1320C>T	c.(1318-1320)ATC>ATT	p.I440I	CLEC16A_uc002dan.3_Silent_p.I422I	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	440								p.0?(1)		ovary(1)|central_nervous_system(1)	2						AGATGGTGATCATGGAGCGTA	0.537													T	11114066	C	T	11114066	2	4	18	1	0	0	0	0	0	0	0	1	3500	816	29	4		4	CLEC16A	16	11114066	Silent	SNP	C	TCGA-BR-4357-01A-01D-1158-08	8766614	11114066	79240687	228	14244											
LDHD	197257	broad.mit.edu	37	chr16	75148041	75148041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccacgaagagccccgtgaGgttgtagccggctgcactct	13	14	1	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr16:75148041G>A	uc002fdm.2	-	6	768	c.721C>T	c.(721-723)CTC>TTC	p.L241F	LDHD_uc002fdn.2_Missense_Mutation_p.L218F	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	D-lactate dehydrogenase isoform 1 precursor	241	FAD-binding PCMH-type.						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding				0						AGCCCCGTGAGGTTGTAGCCG	0.652													A	75148041	G	A	75148041	3	1	18	1	0	0	0	0	1	0	0	0	8703	1000	35	4	826	4	LDHD	16	75148041	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	64033975	75148041	15206712	229	14245											
C17orf81	23587	broad.mit.edu	37	chr17	7160303	7160303	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accctgggcggtaccatgggCcaggcctcggcccacatcct	12	17	0	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr17:7160303C>A	uc002gfg.1	+	6	692	c.585C>A	c.(583-585)GGC>GGA	p.G195G	C17orf81_uc002gfj.2_Silent_p.G195G|C17orf81_uc010cmb.2_Silent_p.G195G|C17orf81_uc002gfh.1_Silent_p.G195G|C17orf81_uc002gfi.1_Silent_p.G195G|C17orf81_uc002gfl.1_Silent_p.G195G	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN	S-phase 2 protein isoform 4	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding				0						GTACCATGGGCCAGGCCTCGG	0.612													A	7160303	C	A	7160303	2	1	18	1	0	0	0	0	0	0	0	1	1886	726	26	5		5	C17orf81	17	7160303	Silent	SNP	C	TCGA-BR-4357-01A-01D-1158-08		7160303	74034907	230	14246											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	15	11	1	2	rs11540652		TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr17:7577538C>T	uc002gim.2	-	7	937	c.743G>A	c.(742-744)CGG>CAG	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577538	C	T	7577538	3	4	18	1	0	0	0	0	1	0	0	0	16378	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	417235	7577538	73617672	231	14247											
DNAH9	1770	broad.mit.edu	37	chr17	11684396	11684396	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccagggaacaagaaactcatCtatttcattgatgacatgaa	7	8	3	4			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr17:11684396C>G	uc002gne.2	+	39	7691	c.7623C>G	c.(7621-7623)ATC>ATG	p.I2541M	DNAH9_uc010coo.2_Missense_Mutation_p.I1835M	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2541	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGAAACTCATCTATTTCATTG	0.552													G	11684396	C	G	11684396	3	3	18	1	0	0	0	0	1	0	0	0	4608	903	32	5	7777	5	DNAH9	17	11684396	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	4106858	11684396	69510814	232	14248											
PHF12	57649	broad.mit.edu	37	chr17	27233875	27233875	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatctctgctccaacttactGatgacactctgcactttggc	7	13	2	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr17:27233875G>A	uc002hdg.1	-	14	3209	c.2679C>T	c.(2677-2679)ATC>ATT	p.I893I	PHF12_uc010wbb.1_Silent_p.I875I	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	893					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CCAACTTACTGATGACACTCT	0.537													A	27233875	G	A	27233875	2	1	18	1	0	0	0	0	0	0	0	1	11823	1304	45	4		4	PHF12	17	27233875	Silent	SNP	G	TCGA-BR-4357-01A-01D-1158-08	15549479	27233875	53961335	233	14249											
ADAP2	55803	broad.mit.edu	37	chr17	29281541	29281541	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggttcgccctggattgccatGagcggaggctgctctattac	13	11	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr17:29281541G>C	uc002hfx.2	+	9	1129	c.850G>C	c.(850-852)GAG>CAG	p.E284Q	ADAP2_uc010csk.2_Missense_Mutation_p.E290Q|ADAP2_uc002hfy.2_Missense_Mutation_p.E283Q|ADAP2_uc010csl.2_RNA	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	centaurin-alpha 2 protein	284	PH 2.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		ovary(1)	1						GGATTGCCATGAGCGGAGGCT	0.512													C	29281541	G	C	29281541	3	2	18	1	0	0	0	0	1	0	0	0	280	1291	45	5	884	5	ADAP2	17	29281541	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	2047666	29281541	51913669	234	14250											
NF1	4763	broad.mit.edu	37	chr17	29657378	29657378	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttaaaaatcgagggccagTtactagagacatcaggttta	9	6	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr17:29657378T>G	uc002hgg.2	+	39	6007	c.5674T>G	c.(5674-5676)TTA>GTA	p.L1892V	NF1_uc002hgh.2_Missense_Mutation_p.L1871V|NF1_uc002hgi.1_Missense_Mutation_p.L904V|NF1_uc010cso.2_Missense_Mutation_p.L80V	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1892					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CGAGGGCCAGTTACTAGAGAC	0.403			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			G	29657378	T	G	29657378	3	3	18	1	0	0	0	0	1	0	0	0	10356	1722	60	5	5889	5	NF1	17	29657378	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	375837	29657378	51537832	235	14251											
LIG3	3980	broad.mit.edu	37	chr17	33331399	33331399	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgacggggacctggtacaGgaatttgatatgacttcagc	12	8	1	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr17:33331399G>A	uc002hik.1	+	20	3012	c.2904G>A	c.(2902-2904)CAG>CAA	p.Q968Q	uc002hil.2_5'Flank	NM_013975	NP_039269	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent isoform alpha	968	BRCT.				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9		Ovarian(249;0.17)			Bleomycin(DB00290)	ACCTGGTACAGGAATTTGATA	0.572								Other_BER_factors					A	33331399	G	A	33331399	2	1	18	1	0	0	0	0	0	0	0	1	8782	991	35	4		4	LIG3	17	33331399	Silent	SNP	G	TCGA-BR-4357-01A-01D-1158-08	3674021	33331399	47863811	236	14252											
CCL18	6362	broad.mit.edu	37	chr17	34391748	34391748	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcctcgtctgcaccatgGccctctgctcctgtgcacaa	8	16	2	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr17:34391748G>T	uc002hku.2	+	1	106	c.46G>T	c.(46-48)GCC>TCC	p.A16S		NM_002988	NP_002979	P55774	CCL18_HUMAN	small inducible cytokine A18 precursor	16					cell-cell signaling|chemotaxis|immune response|inflammatory response|response to biotic stimulus|signal transduction	extracellular space	chemokine activity				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTGCACCATGGCCCTCTGCTC	0.567													T	34391748	G	T	34391748	3	4	18	1	0	0	0	0	1	0	0	0	2889	1203	42	5	48	5	CCL18	17	34391748	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	1060349	34391748	46803462	237	14253											
MED1	5469	broad.mit.edu	37	chr17	37564295	37564295	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctccatcatgcttactgatGataatttttgccacacctgt	5	12	1	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr17:37564295G>A	uc002hrv.3	-	17	4391	c.4179C>T	c.(4177-4179)ATC>ATT	p.I1393I	MED1_uc010wee.1_Silent_p.I1221I|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1393	Ser-rich.|Interaction with TP53.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GCTTACTGATGATAATTTTTG	0.458										HNSCC(31;0.082)			A	37564295	G	A	37564295	2	1	18	1	0	0	0	0	0	0	0	1	9425	1280	45	4		4	MED1	17	37564295	Silent	SNP	G	TCGA-BR-4357-01A-01D-1158-08	3172547	37564295	43630915	238	14254											
PGAP3	93210	broad.mit.edu	37	chr17	37830295	37830295	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgacagtggaggcacagaAgtagtccattttctgaggac	13	7	1	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr17:37830295A>G	uc002hsj.2	-	5	551	c.508T>C	c.(508-510)TTC>CTC	p.F170L	PGAP3_uc010cvy.2_RNA|PGAP3_uc010wej.1_Missense_Mutation_p.F149L|PGAP3_uc002hsk.2_Missense_Mutation_p.F119L|PGAP3_uc010cvz.2_Intron	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN	per1-like domain containing 1 precursor	170	Helical; (Potential).				GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			upper_aerodigestive_tract(1)	1						GAGGCACAGAAGTAGTCCATT	0.602													G	37830295	A	G	37830295	3	3	18	1	0	0	0	0	1	0	0	0	11779	72	3	3	470	3	PGAP3	17	37830295	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	266000	37830295	43364915	239	14255											
ETV4	2118	broad.mit.edu	37	chr17	41610164	41610164	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgttcatacaggggatcaTggtattcttgcttaaagctc	9	9	3	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr17:41610164T>C	uc002idw.2	-	8	817	c.689A>G	c.(688-690)CAT>CGT	p.H230R	ETV4_uc002idv.2_5'Flank|ETV4_uc010wih.1_Missense_Mutation_p.H176R|ETV4_uc010czh.2_Missense_Mutation_p.H229R|ETV4_uc010wii.1_Missense_Mutation_p.H191R|ETV4_uc002idx.2_Missense_Mutation_p.H230R|ETV4_uc010wij.1_Missense_Mutation_p.H191R	NM_001986	NP_001977	P43268	ETV4_HUMAN	ets variant gene 4 (E1A enhancer binding	230	Gln-rich.				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)	bone(4)|soft_tissue(2)|ovary(1)	7		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		CAGGGGATCATGGTATTCTTG	0.637			T	EWSR1|TMPRSS2|DDX5|KLK2|CANT1	Ewing sarcoma|Prostate carcinoma								C	41610164	T	C	41610164	3	2	18	1	0	0	0	0	1	0	0	0	5281	1464	51	3	789	3	ETV4	17	41610164	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	3779869	41610164	39585046	240	14256											
FMNL1	752	broad.mit.edu	37	chr17	43309736	43309736	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccattccatctccccaggaGcggtttcaagtcaagaatcc	7	15	3	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr17:43309736G>T	uc002iin.2	+	3	416	c.216G>T	c.(214-216)GAG>GAT	p.E72D	FMNL1_uc002iio.2_Missense_Mutation_p.E27D|FMNL1_uc002iip.1_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	72	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						CTCCCCAGGAGCGGTTTCAAG	0.547													T	43309736	G	T	43309736	3	4	18	1	0	0	0	0	1	0	0	0	5951	962	34	5	226	5	FMNL1	17	43309736	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	1699572	43309736	37885474	241	14257											
MAPT	4137	broad.mit.edu	37	chr17	44061042	44061042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacgggcccagtgtagggcGggccaaagggcaggatgccc	18	12	0	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr17:44061042G>A	uc002ijr.3	+	6	1192	c.872G>A	c.(871-873)CGG>CAG	p.R291Q	MAPT_uc010dau.2_Missense_Mutation_p.R291Q|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	291					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)				AGTGTAGGGCGGGCCAAAGGG	0.622													A	44061042	G	A	44061042	3	1	18	1	0	0	0	0	1	0	0	0	9297	1116	39	1	890	1	MAPT	17	44061042	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	751306	44061042	37134168	242	14258											
MPO	4353	broad.mit.edu	37	chr17	56350797	56350797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcacgaccctccaggaGgcaaaaaagaccctgctgag	10	14	0	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr17:56350797G>A	uc002ivu.1	-	9	1776	c.1599C>T	c.(1597-1599)GCC>GCT	p.A533A		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	533					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)	CCCTCCAGGAGGCAAAAAAGA	0.602													A	56350797	G	A	56350797	2	1	18	1	0	0	0	0	0	0	0	1	9732	987	35	4		4	MPO	17	56350797	Silent	SNP	G	TCGA-BR-4357-01A-01D-1158-08	12289755	56350797	24844413	243	14259											
ABCA8	10351	broad.mit.edu	37	chr17	66920887	66920887	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctggaggcgcttgttcaaaaGagtcatgaaatgaaggatcg	13	6	2	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr17:66920887G>A	uc002jhp.2	-	10	1576	c.1397C>T	c.(1396-1398)TCT>TTT	p.S466F	ABCA8_uc002jhq.2_Missense_Mutation_p.S466F|ABCA8_uc010wqq.1_Missense_Mutation_p.S466F|ABCA8_uc010wqr.1_Missense_Mutation_p.S405F|ABCA8_uc002jhr.2_Missense_Mutation_p.S466F	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	466						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					TTGTTCAAAAGAGTCATGAAA	0.453													A	66920887	G	A	66920887	3	1	18	1	0	0	0	0	1	0	0	0	38	942	33	4	3464	4	ABCA8	17	66920887	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	10570090	66920887	14274323	244	14260											
PIAS2	9063	broad.mit.edu	37	chr18	44407934	44407934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacaaaccctttggttgggCtgctttgtgtttctgacata	9	8	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr18:44407934C>T	uc002lck.2	-	11	1654	c.1496G>A	c.(1495-1497)AGC>AAC	p.S499N	PIAS2_uc010dnp.2_Missense_Mutation_p.S197N|PIAS2_uc002lcl.2_Missense_Mutation_p.S499N|PIAS2_uc010xda.1_Missense_Mutation_p.S197N|PIAS2_uc002lcm.2_Missense_Mutation_p.S499N	NM_004671	NP_004662	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT X isoform	499					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						TTTGGTTGGGCTGCTTTGTGT	0.368													T	44407934	C	T	44407934	3	4	18	1	0	0	0	0	1	0	0	0	11876	797	28	2	460	2	PIAS2	18	44407934	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08		44407934	33669314	245	14261											
PQLC1	80148	broad.mit.edu	37	chr18	77679186	77679186	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcggcatccccggcctacctCatgccctccgtggactggtg	12	17	1	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr18:77679186C>G	uc002lnl.2	-	5	778	c.606G>C	c.(604-606)ATG>ATC	p.M202I	PQLC1_uc010dre.2_Missense_Mutation_p.M119I|PQLC1_uc002lnk.2_Missense_Mutation_p.M184I|PQLC1_uc010xfm.1_Intron	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1 isoform 1	202	PQ-loop 2.					integral to membrane				large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		CGGCCTACCTCATGCCCTCCG	0.602													G	77679186	C	G	77679186	3	3	18	1	0	0	0	0	1	0	0	0	12418	826	29	5	217	5	PQLC1	18	77679186	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	33271252	77679186	398062	246	14262											
OR2Z1	284383	broad.mit.edu	37	chr19	8841802	8841802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtatcctgtacttatgagaCgccaggtatgtctgctgatg	11	8	1	2	rs58741481	byFrequency	TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr19:8841802C>T	uc010xkg.1	+	1	412	c.412C>T	c.(412-414)CGC>TGC	p.R138C		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2						ACTTATGAGACGCCAGGTATG	0.557													T	8841802	C	T	8841802	3	4	18	1	0	0	0	0	1	0	0	0	11036	536	19	1	414	1	OR2Z1	19	8841802	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08		8841802	50287181	247	14263											
MUC16	94025	broad.mit.edu	37	chr19	9076652	9076652	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgcaactttcaagtttgaAgtcatgtctgtgacagtcca	8	9	3	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr19:9076652A>G	uc002mkp.2	-	3	10998	c.10794T>C	c.(10792-10794)ACT>ACC	p.T3598T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3599	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCAAGTTTGAAGTCATGTCTG	0.483													G	9076652	A	G	9076652	2	3	18	1	0	0	0	0	0	0	0	1	9973	59	3	3		3	MUC16	19	9076652	Silent	SNP	A	TCGA-BR-4357-01A-01D-1158-08	234850	9076652	50052331	248	14264											
CACNA1A	773	broad.mit.edu	37	chr19	13346476	13346476	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agaatgcggatggtgtaaccCtgacggagaagtttgatgag	15	5	0	5			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr19:13346476C>G	uc010dze.2	-	32	5258	c.5022G>C	c.(5020-5022)CAG>CAC	p.Q1674H	CACNA1A_uc010xnd.1_Missense_Mutation_p.Q379H|CACNA1A_uc002mwx.3_Missense_Mutation_p.Q379H|CACNA1A_uc010dzc.2_Missense_Mutation_p.Q1199H|CACNA1A_uc002mwy.3_Missense_Mutation_p.Q1673H|CACNA1A_uc002mwv.3_Missense_Mutation_p.Q190H	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1674	IV.|Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGGTGTAACCCTGACGGAGAA	0.567											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	13346476	C	G	13346476	3	3	18	1	0	0	0	0	1	0	0	0	2538	680	24	5	2666	5	CACNA1A	19	13346476	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	4269824	13346476	45782507	249	14265											
USHBP1	83878	broad.mit.edu	37	chr19	17370149	17370149	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcagcctcccgctggcctAgctgcatgctgaggccttca	10	17	2	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr19:17370149A>G	uc002nfs.1	-	7	1108	c.995T>C	c.(994-996)CTA>CCA	p.L332P	USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.L268P|USHBP1_uc010eam.1_Missense_Mutation_p.L260P	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	332							PDZ domain binding			ovary(1)	1						CCGCTGGCCTAGCTGCATGCT	0.572													G	17370149	A	G	17370149	3	3	18	1	0	0	0	0	1	0	0	0	17034	420	15	3	1144	3	USHBP1	19	17370149	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	4023673	17370149	41758834	250	14266											
C19orf61	56006	broad.mit.edu	37	chr19	44237015	44237015	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcaaagagctcttaccagttCttctcggtgaggatcgtgtg	12	9	3	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr19:44237015C>T	uc002oxj.2	-	13	1822	c.1479G>A	c.(1477-1479)AAG>AAA	p.K493K	C19orf61_uc002oxk.2_Silent_p.K493K	NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN	SMG9 protein	493					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding				0		Prostate(69;0.0352)				CTTACCAGTTCTTCTCGGTGA	0.582													T	44237015	C	T	44237015	2	4	18	1	0	0	0	0	0	0	0	1	1943	912	32	4		4	C19orf61	19	44237015	Silent	SNP	C	TCGA-BR-4357-01A-01D-1158-08	26866866	44237015	14891968	251	14267											
ZNF284	342909	broad.mit.edu	37	chr19	44590983	44590984	+	Frame_Shift_Del	DEL	GA	GA	-													gcaccagagggtccacacggGagagagaccttataattgta							TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr19:44590983_44590984delGA	uc002oyg.1	+	5	1568_1569	c.1352_1353delGA	c.(1351-1353)GGAfs	p.G451fs	ZNF284_uc010ejd.2_RNA	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	zinc finger protein 284	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				GTCCACACGGGAGAGAGACCTT	0.421													-	44590984	GA	-	44590983	7	5	18	1	0	1	0	1	0	0	0	0	17818	1174	41	0	1366	0	ZNF284	19	44590983	Frame_Shift_Del	DEL	GA	TCGA-BR-4357-01A-01D-1158-08	353968	44590983	14538000	252	14268											
PVR	5817	broad.mit.edu	37	chr19	45165008	45165008	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaaaccctcttctagcAtgtctcctattcagctgtga	6	11	4	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr19:45165008A>T	uc002ozm.2	+	8	1483	c.1184A>T	c.(1183-1185)CAT>CTT	p.H395L	PVR_uc010xxb.1_Missense_Mutation_p.H342L|PVR_uc010xxc.1_Missense_Mutation_p.H350L|PVR_uc002ozn.2_Missense_Mutation_p.H340L	NM_006505	NP_006496	P15151	PVR_HUMAN	poliovirus receptor isoform alpha	395	Cytoplasmic (Potential).				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity				0	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CTCTTCTAGCATGTCTCCTAT	0.512													T	45165008	A	T	45165008	3	4	18	1	0	0	0	0	1	0	0	0	12837	231	8	5	1243	5	PVR	19	45165008	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	574025	45165008	13963975	253	14269											
TRPM4	54795	broad.mit.edu	37	chr19	49671880	49671880	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccagtttcccctggactacaActactcggccttcttcctgg	7	16	1	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr19:49671880A>T	uc002pmw.2	+	6	755	c.683A>T	c.(682-684)AAC>ATC	p.N228I	TRPM4_uc010emu.2_Missense_Mutation_p.N228I|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Missense_Mutation_p.N54I|TRPM4_uc010emv.2_Missense_Mutation_p.N113I|TRPM4_uc010yal.1_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	228	Cytoplasmic (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CTGGACTACAACTACTCGGCC	0.627													T	49671880	A	T	49671880	3	4	18	1	0	0	0	0	1	0	0	0	16585	43	2	5	705	5	TRPM4	19	49671880	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	4506872	49671880	9457103	254	14270											
CEACAM18	729767	broad.mit.edu	37	chr19	51986375	51986375	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagtgtatctgctattccTtcctggatctcaagtaccac	8	11	2	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr19:51986375T>G	uc002pwv.1	+	5	961	c.961T>G	c.(961-963)TTC>GTC	p.F321V		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion	321	Ig-like C2-type.					integral to membrane				skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTGCTATTCCTTCCTGGATCT	0.522													G	51986375	T	G	51986375	3	3	18	1	0	0	0	0	1	0	0	0	3189	1609	56	5	979	5	CEACAM18	19	51986375	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	2314495	51986375	7142608	255	14271											
TMC2	117532	broad.mit.edu	37	chr20	2621798	2621798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaccactcctccctctgCcagccaaagccaggccatgg	9	17	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr20:2621798C>T	uc002wgf.1	+	20	2537	c.2522C>T	c.(2521-2523)GCC>GTC	p.A841V	TMC2_uc002wgg.1_Missense_Mutation_p.A825V	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	841	Cytoplasmic (Potential).					integral to membrane				ovary(3)	3						CCTCCCTCTGCCAGCCAAAGC	0.567													T	2621798	C	T	2621798	3	4	18	1	0	0	0	0	1	0	0	0	15982	739	26	2	2600	2	TMC2	20	2621798	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08		2621798	60403722	256	14272											
PLCB4	5332	broad.mit.edu	37	chr20	9459579	9459579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttataggcgaaggagatGcagcagatggtgaaattgga	15	3	0	3			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr20:9459579G>A	uc002wnf.2	+	37	3607	c.3471G>A	c.(3469-3471)ATG>ATA	p.M1157I	PLCB4_uc010gbx.2_Missense_Mutation_p.M1169I|PLCB4_uc002wne.2_Missense_Mutation_p.A1170T|PLCB4_uc002wnh.2_Missense_Mutation_p.M1004I	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	1157					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			skin(11)|ovary(3)|pancreas(1)	15						CGAAGGAGATGCAGCAGATGG	0.453													A	9459579	G	A	9459579	3	1	18	1	0	0	0	0	1	0	0	0	12030	1319	46	2	3690	2	PLCB4	20	9459579	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	6837781	9459579	53565941	257	14273											
TMEM90B	79953	broad.mit.edu	37	chr20	24523880	24523880	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacccagcgccccagtaccaGagccaccgggtgggggccag	14	16	0	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr20:24523880G>A	uc002wtw.1	+	2	780	c.147G>A	c.(145-147)CAG>CAA	p.Q49Q		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	transmembrane protein 90B	49	Cytoplasmic (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane					0						CCCAGTACCAGAGCCACCGGG	0.597													A	24523880	G	A	24523880	2	1	18	1	0	0	0	0	0	0	0	1	16216	933	33	4		4	TMEM90B	20	24523880	Silent	SNP	G	TCGA-BR-4357-01A-01D-1158-08	15064301	24523880	38501640	258	14274											
PXMP4	11264	broad.mit.edu	37	chr20	32295542	32295542	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggacggctcttgttatagacGaggaagtctgagatgtcgtg	15	6	2	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr20:32295542G>A	uc002wzv.2	-	4	732	c.609C>T	c.(607-609)CTC>CTT	p.L203L	PXMP4_uc002wzw.2_3'UTR|PXMP4_uc010zuh.1_3'UTR	NM_007238	NP_009169	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4 isoform a	203						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity				0						TGTTATAGACGAGGAAGTCTG	0.537													A	32295542	G	A	32295542	2	1	18	1	0	0	0	0	0	0	0	1	12851	1045	37	1		1	PXMP4	20	32295542	Silent	SNP	G	TCGA-BR-4357-01A-01D-1158-08	7771662	32295542	30729978	259	14275											
NCOA6	23054	broad.mit.edu	37	chr20	33330312	33330312	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatctgtggagggaagagtcCtgctatggaggcattgagtc	15	6	1	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr20:33330312C>A	uc002xav.2	-	12	6319	c.3748G>T	c.(3748-3750)GGA>TGA	p.G1250*	NCOA6_uc002xaw.2_Nonsense_Mutation_p.G1250*	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1250	NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						GGGAAGAGTCCTGCTATGGAG	0.473													A	33330312	C	A	33330312	4	1	18	1	0	0	0	0	0	1	0	0	10233	690	24	5	2463	5	NCOA6	20	33330312	Nonsense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	1034770	33330312	29695208	260	14276											
RALGAPB	57148	broad.mit.edu	37	chr20	37121694	37121694	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttagtgttgccaaaagattCtattccattgccagttatta	6	7	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr20:37121694C>G	uc002xiw.2	+	3	565	c.308C>G	c.(307-309)TCT>TGT	p.S103C	RALGAPB_uc010zvz.1_Missense_Mutation_p.S103C|RALGAPB_uc002xix.2_Missense_Mutation_p.S103C|RALGAPB_uc002xiy.1_Missense_Mutation_p.S103C|RALGAPB_uc002xiz.2_5'UTR	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	103					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						CCAAAAGATTCTATTCCATTG	0.353													G	37121694	C	G	37121694	3	3	18	1	0	0	0	0	1	0	0	0	13015	913	32	5	314	5	RALGAPB	20	37121694	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	3791382	37121694	25903826	261	14277											
PPP1R16B	26051	broad.mit.edu	37	chr20	37529251	37529251	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttgcttgctgtcaactcGgatgggaacatgccatatga	11	9	1	1	rs34142152	byFrequency	TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr20:37529251G>A	uc002xje.2	+	5	684	c.495G>A	c.(493-495)TCG>TCA	p.S165S	PPP1R16B_uc010ggc.2_Silent_p.S165S	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	165					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				CTGTCAACTCGGATGGGAACA	0.587													A	37529251	G	A	37529251	2	1	18	1	0	0	0	0	0	0	0	1	12366	1103	39	1		1	PPP1R16B	20	37529251	Silent	SNP	G	TCGA-BR-4357-01A-01D-1158-08	407557	37529251	25496269	262	14278											
TOP1	7150	broad.mit.edu	37	chr20	39750719	39750719	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agctggaagttcaagccacaGaccgagaggaaaataaacag	11	8	1	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr20:39750719G>C	uc002xjl.2	+	20	2365	c.2119G>C	c.(2119-2121)GAC>CAC	p.D707H	uc002xjn.1_Intron	NM_003286	NP_003277	P11387	TOP1_HUMAN	DNA topoisomerase I	707					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	TCAAGCCACAGACCGAGAGGA	0.468			T	NUP98	AML*								C	39750719	G	C	39750719	3	2	18	1	0	0	0	0	1	0	0	0	16360	942	33	5	2197	5	TOP1	20	39750719	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	2221468	39750719	23274801	263	14279											
PTPRT	11122	broad.mit.edu	37	chr20	41514542	41514542	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagccacactataaccacagTtgctgtagtgctcatcaaag	8	11	2	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr20:41514542T>C	uc002xkg.2	-	2	303	c.119A>G	c.(118-120)AAC>AGC	p.N40S	PTPRT_uc010ggj.2_Missense_Mutation_p.N40S	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	40	Extracellular (Potential).|MAM.				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)				ATAACCACAGTTGCTGTAGTG	0.498													C	41514542	T	C	41514542	3	2	18	1	0	0	0	0	1	0	0	0	12812	1725	60	3	4387	3	PTPRT	20	41514542	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	1763823	41514542	21510978	264	14280											
JPH2	57158	broad.mit.edu	37	chr20	42788489	42788489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagccactcgccctcgtagCggaggccactggagcgttcg	13	16	0	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr20:42788489C>T	uc002xli.1	-	2	1811	c.938G>A	c.(937-939)CGC>CAC	p.R313H		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	313	MORN 7.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCCTCGTAGCGGAGGCCACT	0.667													T	42788489	C	T	42788489	3	4	18	1	0	0	0	0	1	0	0	0	7961	768	27	1	1168	1	JPH2	20	42788489	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	1273947	42788489	20237031	265	14281											
SEMG2	6407	broad.mit.edu	37	chr20	43850999	43850999	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttcactccatcctgcacaTcaagacagactccaacatgg	5	15	2	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr20:43850999T>A	uc010ggz.2	+	2	783	c.726T>A	c.(724-726)CAT>CAA	p.H242Q	SEMG2_uc002xnk.2_Missense_Mutation_p.H242Q|SEMG2_uc002xnl.2_Missense_Mutation_p.H242Q	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	242	2-2.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				ATCCTGCACATCAAGACAGAC	0.378													A	43850999	T	A	43850999	3	1	18	1	0	0	0	0	1	0	0	0	14045	1432	50	5	732	5	SEMG2	20	43850999	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	1062510	43850999	19174521	266	14282											
KCNB1	3745	broad.mit.edu	37	chr20	47989961	47989961	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacagccttgtccaaaagCgtggcacactccagtccagc	9	15	0	0	rs139458439		TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr20:47989961C>T	uc002xur.1	-	2	2300	c.2136G>A	c.(2134-2136)ACG>ACA	p.T712T	KCNB1_uc002xus.1_Silent_p.T712T	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	712	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGTCCAAAAGCGTGGCACACT	0.597													T	47989961	C	T	47989961	2	4	18	1	0	0	0	0	0	0	0	1	8012	755	27	1		1	KCNB1	20	47989961	Silent	SNP	C	TCGA-BR-4357-01A-01D-1158-08	4138962	47989961	15035559	267	14283											
KCNQ2	3785	broad.mit.edu	37	chr20	62070073	62070073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacccagaccccaagatgcCctgcaattcatcagggtcag	8	14	3	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr20:62070073C>T	uc002yey.1	-	7	1105	c.928G>A	c.(928-930)GGC>AGC	p.G310S	KCNQ2_uc002yez.1_Missense_Mutation_p.G310S|KCNQ2_uc002yfa.1_Missense_Mutation_p.G310S|KCNQ2_uc002yfb.1_Missense_Mutation_p.G310S|KCNQ2_uc011aax.1_Missense_Mutation_p.G310S|KCNQ2_uc002yfc.1_Missense_Mutation_p.G310S	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	310	Helical; Name=Segment S6; (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCCAAGATGCCCTGCAATTCA	0.607													T	62070073	C	T	62070073	3	4	18	1	0	0	0	0	1	0	0	0	8083	637	22	4	1798	4	KCNQ2	20	62070073	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	14080112	62070073	955447	268	14284											
SAMSN1	64092	broad.mit.edu	37	chr21	15889299	15889299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcatttttttacccaaacCgcctccattatttgaagttt	3	11	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr21:15889299C>T	uc002yju.1	-	3	275	c.193G>A	c.(193-195)GGT>AGT	p.G65S	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.G133S	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization	65					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			ovary(3)|pancreas(1)	4				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTACCCAAACCGCCTCCATTA	0.338													T	15889299	C	T	15889299	3	4	18	1	0	0	0	0	1	0	0	0	13830	652	23	1	952	1	SAMSN1	21	15889299	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08		15889299	32240596	269	14285											
TIMP3	7078	broad.mit.edu	37	chr22	33245467	33245467	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccaaggtggtggggaagaaGctggtaaaggaggggccctt	19	6	0	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chr22:33245467G>C	uc003anb.2	+	2	1336	c.150G>C	c.(148-150)AAG>AAC	p.K50N	SYN3_uc003amx.2_Intron|SYN3_uc003amy.2_Intron|SYN3_uc003amz.2_Intron	NM_000362	NP_000353	P35625	TIMP3_HUMAN	tissue inhibitor of metalloproteinase 3	50	NTR.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			lung(1)	1						TGGGGAAGAAGCTGGTAAAGG	0.542													C	33245467	G	C	33245467	3	2	18	1	0	0	0	0	1	0	0	0	15916	962	34	5	156	5	TIMP3	22	33245467	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08		33245467	18059099	270	14286											
WWC3	55841	broad.mit.edu	37	chrX	10046905	10046905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagcagaaatagcaagtcGtcgggatagggtgagtaaaa	13	4	0	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chrX:10046905G>A	uc004csx.3	+	4	485	c.287G>A	c.(286-288)CGT>CAT	p.R96H	WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_5'Flank	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	96	Potential.									ovary(4)	4						ATAGCAAGTCGTCGGGATAGG	0.413													A	10046905	G	A	10046905	3	1	18	1	0	0	0	0	1	0	0	0	17410	1145	40	1	297	1	WWC3	23	10046905	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08		10046905	145223655	271	14287											
FANCB	2187	broad.mit.edu	37	chrX	14862735	14862735	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tacacttctggaaattctttGattatttcacatttcatatg	4	7	4	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chrX:14862735G>C	uc004cwg.1	-	9	2323	c.2055C>G	c.(2053-2055)ATC>ATG	p.I685M	FANCB_uc004cwh.1_Missense_Mutation_p.I685M	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B	685					DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)					GAAATTCTTTGATTATTTCAC	0.378								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				C	14862735	G	C	14862735	3	2	18	1	0	0	0	0	1	0	0	0	5663	1280	45	5	532	5	FANCB	23	14862735	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	4815830	14862735	140407825	272	14288											
DMD	1756	broad.mit.edu	37	chrX	32429933	32429933	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tataagctgccaactgcttgTcaatgaatgtgagggactcc	10	9	1	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chrX:32429933T>A	uc004dda.1	-	30	4413	c.4169A>T	c.(4168-4170)GAC>GTC	p.D1390V	DMD_uc004dcw.2_Missense_Mutation_p.D46V|DMD_uc004dcx.2_Missense_Mutation_p.D49V|DMD_uc004dcz.2_Missense_Mutation_p.D1267V|DMD_uc004dcy.1_Missense_Mutation_p.D1386V|DMD_uc004ddb.1_Missense_Mutation_p.D1382V|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1390					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAACTGCTTGTCAATGAATGT	0.473													A	32429933	T	A	32429933	3	1	18	1	0	0	0	0	1	0	0	0	4580	1667	58	5	7236	5	DMD	23	32429933	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	17567198	32429933	122840627	273	14289											
ZNF630	57232	broad.mit.edu	37	chrX	47919190	47919190	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaacaggaagcattatacTtaggtggtctcccacatcta	8	10	2	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chrX:47919190T>G	uc004div.3	-	5	893	c.641A>C	c.(640-642)AAG>ACG	p.K214T	ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.K90T	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	zinc finger protein 630	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|lung(1)	2						AGCATTATACTTAGGTGGTCT	0.393													G	47919190	T	G	47919190	3	3	18	1	0	0	0	0	1	0	0	0	18051	1609	56	5	1336	5	ZNF630	23	47919190	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	15489257	47919190	107351370	274	14290											
HUWE1	10075	broad.mit.edu	37	chrX	53655775	53655775	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaggcagttccagtacagtCaataatactgctgagtttgg	12	7	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chrX:53655775C>T	uc004dsp.2	-	14	1444	c.1042G>A	c.(1042-1044)GAC>AAC	p.D348N		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	348					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CCAGTACAGTCAATAATACTG	0.393													T	53655775	C	T	53655775	3	4	18	1	0	0	0	0	1	0	0	0	7461	826	29	4	12366	4	HUWE1	23	53655775	Missense_Mutation	SNP	C	TCGA-BR-4357-01A-01D-1158-08	5736585	53655775	101614785	275	14291											
TRMT2B	79979	broad.mit.edu	37	chrX	100278521	100278521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccttggctattggtgcGgactgtgagctcacgccagt	14	11	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chrX:100278521G>A	uc004egq.2	-	7	993	c.694C>T	c.(694-696)CGC>TGC	p.R232C	TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Missense_Mutation_p.R232C|TRMT2B_uc004egs.2_Missense_Mutation_p.R232C|TRMT2B_uc004egt.2_Missense_Mutation_p.R232C|TRMT2B_uc004egu.2_Missense_Mutation_p.R113C|TRMT2B_uc004egv.2_Missense_Mutation_p.R187C	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN	TRM2 tRNA methyltransferase 2 homolog B	232							tRNA (uracil-5-)-methyltransferase activity			ovary(1)	1						CTATTGGTGCGGACTGTGAGC	0.463													A	100278521	G	A	100278521	3	1	18	1	0	0	0	0	1	0	0	0	16563	1116	39	1	848	1	TRMT2B	23	100278521	Missense_Mutation	SNP	G	TCGA-BR-4357-01A-01D-1158-08	46622746	100278521	54992039	276	14292											
NRK	203447	broad.mit.edu	37	chrX	105142676	105142676	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgaggtgattgactgtgAtgaggacccaagacgctcct	12	10	0	6			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chrX:105142676A>G	uc004emd.2	+	8	983	c.680A>G	c.(679-681)GAT>GGT	p.D227G	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	227	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						ATTGACTGTGATGAGGACCCA	0.408										HNSCC(51;0.14)			G	105142676	A	G	105142676	3	3	18	1	0	0	0	0	1	0	0	0	10655	333	12	3	710	3	NRK	23	105142676	Missense_Mutation	SNP	A	TCGA-BR-4357-01A-01D-1158-08	4864155	105142676	50127884	277	14293											
NRK	203447	broad.mit.edu	37	chrX	105193615	105193615	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcatcattttacctgattgcTtgggaattggcatgatgctc	9	8	2	2			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chrX:105193615T>A	uc004emd.2	+	27	4705	c.4402T>A	c.(4402-4404)TTG>ATG	p.L1468M	NRK_uc011msi.1_Missense_Mutation_p.L49M	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1468	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						ACCTGATTGCTTGGGAATTGG	0.373										HNSCC(51;0.14)			A	105193615	T	A	105193615	3	1	18	1	0	0	0	0	1	0	0	0	10655	1606	56	5	4508	5	NRK	23	105193615	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	50939	105193615	50076945	278	14294											
RGAG1	57529	broad.mit.edu	37	chrX	109696362	109696362	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatgccacaagtgaaggcTcccatctctggagcaatgtc	9	13	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chrX:109696362T>G	uc004eor.1	+	3	2763	c.2517T>G	c.(2515-2517)GCT>GCG	p.A839A	RGAG1_uc011msr.1_Silent_p.A839A	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	839										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						AAGTGAAGGCTCCCATCTCTG	0.537													G	109696362	T	G	109696362	2	3	18	1	0	0	0	0	0	0	0	1	13274	1538	54	5		5	RGAG1	23	109696362	Silent	SNP	T	TCGA-BR-4357-01A-01D-1158-08	4502747	109696362	45574198	279	14295											
RGAG1	57529	broad.mit.edu	37	chrX	109697340	109697340	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggctcatgctctgtggaGgaagagatggagattgatga	17	5	2	4			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chrX:109697340G>A	uc004eor.1	+	3	3741	c.3495G>A	c.(3493-3495)GAG>GAA	p.E1165E	RGAG1_uc011msr.1_Silent_p.E1165E	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1165										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						GCTCTGTGGAGGAAGAGATGG	0.507													A	109697340	G	A	109697340	2	1	18	1	0	0	0	0	0	0	0	1	13274	991	35	4		4	RGAG1	23	109697340	Silent	SNP	G	TCGA-BR-4357-01A-01D-1158-08	978	109697340	45573220	280	14296											
PAK3	5063	broad.mit.edu	37	chrX	110435361	110435361	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcaccttcacagggcatcAggtactgtttatacagcact	7	11	3	0			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chrX:110435361A>C	uc004epa.2	+	9	909	c.882A>C	c.(880-882)TCA>TCC	p.S294S	PAK3_uc010npt.1_Silent_p.S279S|PAK3_uc010npu.1_Silent_p.S279S|PAK3_uc004eoy.1_Silent_p.S34S|PAK3_uc004eoz.2_Silent_p.S279S|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Silent_p.S315S|PAK3_uc010npw.1_Silent_p.S300S	NM_001128173	NP_001121645	O75914	PAK3_HUMAN	p21-activated kinase 3 isoform d	294	ATP (By similarity).|Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			lung(6)|ovary(3)|large_intestine(1)	10						ACAGGGCATCAGGTACTGTTT	0.308										TSP Lung(19;0.15)			C	110435361	A	C	110435361	2	2	18	1	0	0	0	0	0	0	0	1	11402	175	7	5		5	PAK3	23	110435361	Silent	SNP	A	TCGA-BR-4357-01A-01D-1158-08	738021	110435361	44835199	281	14297											
GPR112	139378	broad.mit.edu	37	chrX	135430266	135430266	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actttccctgagtccttgtcTctttccacagctggactata	6	13	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chrX:135430266T>G	uc004ezu.1	+	6	4692	c.4401T>G	c.(4399-4401)TCT>TCG	p.S1467S	GPR112_uc010nsb.1_Silent_p.S1262S|GPR112_uc010nsc.1_Silent_p.S1234S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1467	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					AGTCCTTGTCTCTTTCCACAG	0.433													G	135430266	T	G	135430266	2	3	18	1	0	0	0	0	0	0	0	1	6629	1538	54	5		5	GPR112	23	135430266	Silent	SNP	T	TCGA-BR-4357-01A-01D-1158-08	24994905	135430266	19840294	282	14298											
SPRY3	10251	broad.mit.edu	37	chrX	155004392	155004392	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccccaaggcccaggaaaagTctgtatgaccttccaacaag	8	13	1	1			TCGA-BR-4357-01A-01D-1158-08	TCGA-BR-4357-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec6b643-3173-415d-8d12-b585c869018c	ec09774d-f21b-4b96-b757-f534d4e4375c	g.chrX:155004392T>A	uc004fnq.1	+	2	1313	c.859T>A	c.(859-861)TCT>ACT	p.S287T	SPRY3_uc010nvl.1_Missense_Mutation_p.S188T	NM_005840	NP_005831	O43610	SPY3_HUMAN	sprouty homolog 3	287					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane					0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGGAAAAGTCTGTATGACC	0.542													A	155004392	T	A	155004392	3	1	18	1	0	0	0	0	1	0	0	0	15106	1667	58	5	861	5	SPRY3	23	155004392	Missense_Mutation	SNP	T	TCGA-BR-4357-01A-01D-1158-08	19574126	155004392	266168	283	14299											
KLHL17	339451	broad.mit.edu	37	chr1	898538	898538	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgtgaggcctacgacacGcgcaccgaccgctggcacgt	13	15	0	1	rs141603895	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:898538G>A	uc001aca.1	+	7	1199	c.1092G>A	c.(1090-1092)ACG>ACA	p.T364T	KLHL17_uc001acc.1_RNA|KLHL17_uc010nyb.1_Missense_Mutation_p.R113H	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	kelch-like 17	364	Interaction with F-actin (By similarity).|Kelch 1.				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTACGACACGCGCACCGACC	0.701													A	898538	G	A	898538	2	1	19	1	0	0	0	0	0	0	0	1	8372	1074	38	1		1	KLHL17	1	898538	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08		898538	248352083	1	14300											
AGRN	375790	broad.mit.edu	37	chr1	978991	978991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtgtgcccctctgaatgCgtggctttggcccagcccgt	13	14	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:978991C>T	uc001ack.1	+	9	1727	c.1677C>T	c.(1675-1677)TGC>TGT	p.C559C		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	559	Kazal-like 6.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCTCTGAATGCGTGGCTTTGG	0.687													T	978991	C	T	978991	2	4	19	1	0	0	0	0	0	0	0	1	397	776	27	1		1	AGRN	1	978991	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	80453	978991	248271630	2	14301											
SDF4	51150	broad.mit.edu	37	chr1	1154242	1154242	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactcctcctccgtcagcaGcaggtctgcaggggggctgt	14	13	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:1154242G>A	uc001adh.3	-	5	972	c.643C>T	c.(643-645)CTG>TTG	p.L215L	SDF4_uc001adg.2_RNA|SDF4_uc001adi.3_Silent_p.L215L|SDF4_uc009vjv.2_Silent_p.L93L|SDF4_uc009vjw.2_RNA	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4 isoform 2	215	EF-hand 3.|3 (Potential).				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|calcium ion binding|identical protein binding|protein binding			upper_aerodigestive_tract(1)|large_intestine(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		TCCGTCAGCAGCAGGTCTGCA	0.647													A	1154242	G	A	1154242	2	1	19	1	0	0	0	0	0	0	0	1	13962	962	34	2		2	SDF4	1	1154242	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	175251	1154242	248096379	3	14302											
ATAD3B	83858	broad.mit.edu	37	chr1	1421557	1421557	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaagaagaaccggggccTgtacaggcacatcctgctgt	11	13	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:1421557T>C	uc001afv.2	+	10	1132	c.1031T>C	c.(1030-1032)CTG>CCG	p.L344P	ATAD3B_uc001afx.2_Missense_Mutation_p.L298P	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	AAA-ATPase  TOB3	344							ATP binding|nucleoside-triphosphatase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AACCGGGGCCTGTACAGGCAC	0.657													C	1421557	T	C	1421557	3	2	19	1	0	0	0	0	1	0	0	0	1074	1580	55	3	1069	3	ATAD3B	1	1421557	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	267315	1421557	247829064	4	14303											
WDR8	49856	broad.mit.edu	37	chr1	3564057	3564057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggatctggtctaggcacGtgtacagctgaaggatctga	14	8	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:3564057G>A	uc001ako.2	-	2	245	c.137C>T	c.(136-138)ACG>ATG	p.T46M	WDR8_uc001akn.3_Missense_Mutation_p.T46M|WDR8_uc010nzi.1_Missense_Mutation_p.T46M	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN	WD repeat domain 8	46	WD 1.					centrosome	protein binding				0	all_cancers(77;0.0128)|all_epithelial(69;0.00526)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;4.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.16e-22)|GBM - Glioblastoma multiforme(42;1.05e-14)|Colorectal(212;1.19e-05)|BRCA - Breast invasive adenocarcinoma(365;2.67e-05)|COAD - Colon adenocarcinoma(227;5.82e-05)|Kidney(185;0.000364)|KIRC - Kidney renal clear cell carcinoma(229;0.00223)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GTCTAGGCACGTGTACAGCTG	0.542													A	3564057	G	A	3564057	3	1	19	1	0	0	0	0	1	0	0	0	17326	1145	40	1	1289	1	WDR8	1	3564057	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2142500	3564057	245686564	5	14304											
LRRC47	57470	broad.mit.edu	37	chr1	3697778	3697778	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accagaagggagggcccgtcCtttccagcactgggattcgt	13	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:3697778C>A	uc001akx.1	-	7	1654	c.1626G>T	c.(1624-1626)AAG>AAT	p.K542N		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	542					translation		phenylalanine-tRNA ligase activity|RNA binding			large_intestine(1)|ovary(1)	2	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		AGGGCCCGTCCTTTCCAGCAC	0.567													A	3697778	C	A	3697778	3	1	19	1	0	0	0	0	1	0	0	0	9004	680	24	5	129	5	LRRC47	1	3697778	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	133721	3697778	245552843	6	14305											
KIAA0562	9731	broad.mit.edu	37	chr1	3768907	3768907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgtggatcatgagctccCgggcactgaagccgtcttcg	14	13	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:3768907C>T	uc001aky.2	-	2	424	c.65G>A	c.(64-66)CGG>CAG	p.R22Q	KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Missense_Mutation_p.R22Q	NM_014704	NP_055519	O60308	CE104_HUMAN	glycine-, glutamate-,	22						centriole	binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)		CATGAGCTCCCGGGCACTGAA	0.592													T	3768907	C	T	3768907	3	4	19	1	0	0	0	0	1	0	0	0	8184	652	23	1	2796	1	KIAA0562	1	3768907	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	71129	3768907	245481714	7	14306											
NPHP4	261734	broad.mit.edu	37	chr1	5925274	5925274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacgcaggagacatccacgCgctgcagggagtggaggtag	17	10	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:5925274C>T	uc001alq.1	-	27	3970	c.3704G>A	c.(3703-3705)CGC>CAC	p.R1235H	NPHP4_uc001alr.1_3'UTR	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	1235					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	p.R1235R(1)		pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GACATCCACGCGCTGCAGGGA	0.632													T	5925274	C	T	5925274	3	4	19	1	0	0	0	0	1	0	0	0	10581	768	27	1	592	1	NPHP4	1	5925274	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2156367	5925274	243325347	8	14307											
NPHP4	261734	broad.mit.edu	37	chr1	5927142	5927142	+	Frame_Shift_Del	DEL	G	G	-													cgctgcagcgaacatggactGgggggtcctcaccaagcatt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:5927141_5927141TG>T	uc001alq.2	-	24	3775	c.3507_3507CA>A	c.(3505-3507)ccafs	p.P1169fs	NPHP4_uc001alr.1_Frame_Shift_Del_p.P111fs	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	1169					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GAACATGGACTGGGGGGTCCT	0.587													-	5927142	G	-	5927142	7	5	19	1	0	1	0	1	0	0	0	0	10581	1348	47	0	798	0	NPHP4	1	5927142	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	1868	5927142	243323479	9	14308											
ACOT7	11332	broad.mit.edu	37	chr1	6341163	6341163	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaaggatgcgcactcaccAccagctggggcacaggcagc	12	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:6341163A>G	uc001ams.2	-	8	1200	c.1043T>C	c.(1042-1044)GTG>GCG	p.V348A	ACOT7_uc010nzq.1_Missense_Mutation_p.V233A|ACOT7_uc001amt.2_Missense_Mutation_p.V338A|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA|ACOT7_uc001amq.2_Missense_Mutation_p.V297A|ACOT7_uc001amr.2_Missense_Mutation_p.V318A	NM_181864	NP_863654	O00154	BACH_HUMAN	acyl-CoA thioesterase 7 isoform hBACHb	348						mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity				0	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		CGCACTCACCACCAGCTGGGG	0.652											OREG0013034	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	6341163	A	G	6341163	3	3	19	1	0	0	0	0	1	0	0	0	155	173	6	3	107	3	ACOT7	1	6341163	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	414021	6341163	242909458	10	14309											
CAMTA1	23261	broad.mit.edu	37	chr1	7724391	7724391	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcgactccaacaaggactAcacgtccagcttcagccaga	7	15	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:7724391A>G	uc001aoi.2	+	9	1991	c.1784A>G	c.(1783-1785)TAC>TGC	p.Y595C		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AACAAGGACTACACGTCCAGC	0.677													G	7724391	A	G	7724391	3	3	19	1	0	0	0	0	1	0	0	0	2613	391	14	3	1818	3	CAMTA1	1	7724391	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1383228	7724391	241526230	11	14310											
SLC45A1	50651	broad.mit.edu	37	chr1	8384399	8384399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccccacgatgatccccGcagccagcagcaccccgccg	8	23	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:8384399G>A	uc001apb.2	+	1	10	c.10G>A	c.(10-12)GCA>ACA	p.A4T		NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	4					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GATGATCCCCGCAGCCAGCAG	0.662													A	8384399	G	A	8384399	3	1	19	1	0	0	0	0	1	0	0	0	14640	1087	38	1	12	1	SLC45A1	1	8384399	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	660008	8384399	240866222	12	14311											
PIK3CD	5293	broad.mit.edu	37	chr1	9777080	9777080	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatggtccattcctcctccAtcctcgccatgcgggatgag	9	16	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:9777080A>G	uc001aqb.3	+	7	1052	c.844A>G	c.(844-846)ATC>GTC	p.I282V	PIK3CD_uc010oaf.1_Missense_Mutation_p.I282V|PIK3CD_uc001aqe.3_Intron	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	282					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(4)|skin(2)|central_nervous_system(1)	7	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TTCCTCCTCCATCCTCGCCAT	0.637													G	9777080	A	G	9777080	3	3	19	1	0	0	0	0	1	0	0	0	11915	217	8	3	862	3	PIK3CD	1	9777080	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1392681	9777080	239473541	13	14312											
CLSTN1	22883	broad.mit.edu	37	chr1	9795179	9795179	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcctcgggctgtaaaaccAtcacgtagccatctaccggg	10	14	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:9795179A>G	uc001aqh.2	-	14	2696	c.1937T>C	c.(1936-1938)ATG>ACG	p.M646T	CLSTN1_uc001aqi.2_Missense_Mutation_p.M636T|CLSTN1_uc010oag.1_Missense_Mutation_p.M627T|CLSTN1_uc001aqf.2_5'Flank	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	646	Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CTGTAAAACCATCACGTAGCC	0.547													G	9795179	A	G	9795179	3	3	19	1	0	0	0	0	1	0	0	0	3561	217	8	3	1032	3	CLSTN1	1	9795179	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	18099	9795179	239455442	14	14313											
UBE4B	10277	broad.mit.edu	37	chr1	10211616	10211616	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccctgatgaagttttatAcaggtaggttgctggaacac	10	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:10211616A>G	uc001aqs.3	+	21	3636	c.2923A>G	c.(2923-2925)ACA>GCA	p.T975A	UBE4B_uc001aqr.3_Missense_Mutation_p.T846A|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.T430A|UBE4B_uc001aqt.1_Missense_Mutation_p.T315A	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	975					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GAAGTTTTATACAGGTAGGTT	0.458													G	10211616	A	G	10211616	3	3	19	1	0	0	0	0	1	0	0	0	16880	391	14	3	3005	3	UBE4B	1	10211616	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	416437	10211616	239039005	15	14314											
KIF1B	23095	broad.mit.edu	37	chr1	10381811	10381811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttggcccaatgggccttcCggaaatggaagtctcatcag	12	10	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:10381811C>T	uc001aqx.3	+	24	2456	c.2254C>T	c.(2254-2256)CGG>TGG	p.R752W	KIF1B_uc001aqw.3_Missense_Mutation_p.R706W|KIF1B_uc001aqy.2_Missense_Mutation_p.R726W|KIF1B_uc001aqz.2_Missense_Mutation_p.R752W|KIF1B_uc001ara.2_Missense_Mutation_p.R712W|KIF1B_uc001arb.2_Missense_Mutation_p.R738W	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	752					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ATGGGCCTTCCGGAAATGGAA	0.413													T	10381811	C	T	10381811	3	4	19	1	0	0	0	0	1	0	0	0	8284	643	23	1	3687	1	KIF1B	1	10381811	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	170195	10381811	238868810	16	14315											
MASP2	10747	broad.mit.edu	37	chr1	11105575	11105575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgggcgcctctcccgggGccacctggcactcgtcaatg	14	15	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:11105575G>A	uc001aru.2	-	4	455	c.434C>T	c.(433-435)GCC>GTC	p.A145V	MASP2_uc001arv.2_Missense_Mutation_p.A145V|MASP2_uc001arw.2_3'UTR|MASP2_uc001arx.1_Missense_Mutation_p.A145V	NM_006610	NP_006601	O00187	MASP2_HUMAN	mannan-binding lectin serine protease 2 isoform	145	EGF-like; calcium-binding.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CTCTCCCGGGGCCACCTGGCA	0.672													A	11105575	G	A	11105575	3	1	19	1	0	0	0	0	1	0	0	0	9323	1203	42	2	1676	2	MASP2	1	11105575	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	723764	11105575	238145046	17	14316											
C1orf187	374946	broad.mit.edu	37	chr1	11766661	11766661	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggacctgctcctgggactgGcattgccctaccccgagaag	12	14	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:11766661G>C	uc001asr.1	+	2	486	c.346G>C	c.(346-348)GCA>CCA	p.A116P		NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	chromosome 1 open reading frame 187 precursor	116					axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region					0	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)		CCTGGGACTGGCATTGCCCTA	0.652													C	11766661	G	C	11766661	3	2	19	1	0	0	0	0	1	0	0	0	2021	1203	42	5	348	5	C1orf187	1	11766661	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	661086	11766661	237483960	18	14317											
VPS13D	55187	broad.mit.edu	37	chr1	12364655	12364656	+	Frame_Shift_Ins	INS	-	-	G													ccaggggaacccattcccagINSgggcagttcacgatgcctct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:12364654_12364655A>AG	uc001atv.3	+	25	6449_6450	c.6308_6309A>AG	c.(6307-6309)cagfs	p.Q2103fs	VPS13D_uc001atw.3_Frame_Shift_Ins_p.Q2103fs|VPS13D_uc001atx.3_Frame_Shift_Ins_p.Q1291fs	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2103					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACCCATTCCCAGGGGCAGTTCA	0.574													G	12364656	-	G	12364655	7	5	19	1	0	1	1	0	0	0	0	0	17189	991	35	0	6407	0	VPS13D	1	12364655	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	597994	12364655	236885966	19	14318											
PRDM2	7799	broad.mit.edu	37	chr1	14108285	14108285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacagactttcactaccgCcattcgctgcacaaagtgtg	7	14	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:14108285C>T	uc001avi.2	+	8	4851	c.3995C>T	c.(3994-3996)GCC>GTC	p.A1332V	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.A1332V|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.A1131V|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1332						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTCACTACCGCCATTCGCTGC	0.473													T	14108285	C	T	14108285	3	4	19	1	0	0	0	0	1	0	0	0	12458	739	26	2	4021	2	PRDM2	1	14108285	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1743630	14108285	235142336	20	14319											
PRDM2	7799	broad.mit.edu	37	chr1	14108339	14108339	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatatgccggagttgcacaAacatatcctggcttgtgctt	9	10	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:14108339A>G	uc001avi.2	+	8	4905	c.4049A>G	c.(4048-4050)AAA>AGA	p.K1350R	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.K1350R|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.K1149R|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1350	C2H2-type 7; atypical.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAGTTGCACAAACATATCCTG	0.448													G	14108339	A	G	14108339	3	3	19	1	0	0	0	0	1	0	0	0	12458	14	1	3	4075	3	PRDM2	1	14108339	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	54	14108339	235142282	21	14320											
TMEM51	55092	broad.mit.edu	37	chr1	15541903	15541903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcacccgacaggcgctgGgcctcacgcccaggaggaag	14	16	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:15541903G>A	uc001avw.3	+	3	839	c.320G>A	c.(319-321)GGG>GAG	p.G107E	TMEM51_uc010obk.1_Missense_Mutation_p.G107E|TMEM51_uc001avz.2_Missense_Mutation_p.G107E|TMEM51_uc001avy.2_Missense_Mutation_p.G107E|TMEM51_uc001avx.2_Missense_Mutation_p.G107E	NM_001136216	NP_001129688	Q9NW97	TMM51_HUMAN	transmembrane protein 51	107						integral to membrane					0		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		ACAGGCGCTGGGCCTCACGCC	0.622													A	15541903	G	A	15541903	3	1	19	1	0	0	0	0	1	0	0	0	16174	1232	43	4	322	4	TMEM51	1	15541903	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1433564	15541903	233708718	22	14321											
SPEN	23013	broad.mit.edu	37	chr1	16199578	16199578	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggagggcctgcttatggTcccccaccgtcacttcatgc	12	14	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:16199578T>C	uc001axk.1	+	2	555	c.351T>C	c.(349-351)GGT>GGC	p.G117G	SPEN_uc010obp.1_5'Flank	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	117	By similarity.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGCTTATGGTCCCCCACCGT	0.502													C	16199578	T	C	16199578	2	2	19	1	0	0	0	0	0	0	0	1	15037	1654	58	3		3	SPEN	1	16199578	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	657675	16199578	233051043	23	14322											
SPEN	23013	broad.mit.edu	37	chr1	16255224	16255224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgcaaaggaaaggttcactCccctagttctcagtcttcag	8	12	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:16255224C>T	uc001axk.1	+	11	2693	c.2489C>T	c.(2488-2490)TCC>TTC	p.S830F	SPEN_uc010obp.1_Missense_Mutation_p.S789F	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	830					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGGTTCACTCCCCTAGTTCT	0.458													T	16255224	C	T	16255224	3	4	19	1	0	0	0	0	1	0	0	0	15037	855	30	4	2531	4	SPEN	1	16255224	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	55646	16255224	232995397	24	14323											
EPHA2	1969	broad.mit.edu	37	chr1	16475193	16475193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgagcggccccacggagCgctcctccacgttcagcttc	13	16	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:16475193C>T	uc001aya.1	-	3	640	c.503G>A	c.(502-504)CGC>CAC	p.R168H	EPHA2_uc010oca.1_Missense_Mutation_p.R168H	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	168	Extracellular (Potential).				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CCCCACGGAGCGCTCCTCCAC	0.607													T	16475193	C	T	16475193	3	4	19	1	0	0	0	0	1	0	0	0	5167	768	27	1	2487	1	EPHA2	1	16475193	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	219969	16475193	232775428	25	14324											
NECAP2	55707	broad.mit.edu	37	chr1	16767271	16767271	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgcgatggaggagagcggGtacgagtcggtgctctgtgt	19	7	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:16767271G>A	uc001ayo.2	+	1	105	c.15G>A	c.(13-15)GGG>GGA	p.G5G	NECAP2_uc001ayp.3_RNA|NECAP2_uc010ocd.1_Splice_Site_p.G5_splice|NECAP2_uc001ayq.2_Silent_p.G5G	NM_018090	NP_060560	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2 isoform 1	5					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane					0		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAGAGCGGGTACGAGTCGG	0.652											OREG0013136	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	16767271	G	A	16767271	2	1	19	1	0	0	0	0	0	0	0	1	10308	1275	44	4		4	NECAP2	1	16767271	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	292078	16767271	232483350	26	14325											
PADI2	11240	broad.mit.edu	37	chr1	17418998	17418998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggtcggggcctttggtcCgcaggatcatctgggacatg	17	10	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:17418998C>T	uc001baf.2	-	6	642	c.560G>A	c.(559-561)CGG>CAG	p.R187Q	PADI2_uc010ocm.1_Intron|PADI2_uc001bag.1_Missense_Mutation_p.R187Q	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	187					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GCCTTTGGTCCGCAGGATCAT	0.527													T	17418998	C	T	17418998	3	4	19	1	0	0	0	0	1	0	0	0	11378	652	23	1	1481	1	PADI2	1	17418998	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	651727	17418998	231831623	27	14326											
AKR7A2	8574	broad.mit.edu	37	chr1	19632510	19632510	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcacccagggtcgctggttAcctgcagctgtgagtggtgg	16	10	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:19632510A>G	uc001bbw.2	-	6	940	c.918_splice	c.e6+1	p.Q306_splice	AKR7A2_uc001bbx.2_Splice_Site_p.Q271_splice	NM_003689	NP_003680	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2						carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTCGCTGGTTACCTGCAGCTG	0.592													G	19632510	A	G	19632510	5	3	19	1	0	0	0	0	0	0	1	0	475	405	14	3	167	3	AKR7A2	1	19632510	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2213512	19632510	229618111	28	14327											
MUL1	79594	broad.mit.edu	37	chr1	20827485	20827485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaatgaagaagagggtggCacatgtggcaaagccaaaaa	14	5	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:20827485C>T	uc001bdi.3	-	4	914	c.757G>A	c.(757-759)GCC>ACC	p.A253T		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	mitochondrial ubiquitin ligase activator of NFKB	253	Helical; (Potential).				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		AAGAGGGTGGCACATGTGGCA	0.597													T	20827485	C	T	20827485	3	4	19	1	0	0	0	0	1	0	0	0	9984	710	25	2	305	2	MUL1	1	20827485	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1194975	20827485	228423136	29	14328											
PINK1	65018	broad.mit.edu	37	chr1	20971106	20971106	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactaccctgatgtgctgccCtcacgcctccaccctgaagg	9	17	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:20971106C>A	uc001bdm.2	+	4	994	c.900C>A	c.(898-900)CCC>CCA	p.P300P		NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1 precursor	300	Protein kinase.|Cytoplasmic (Potential).				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			ovary(2)|central_nervous_system(1)	3		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATGTGCTGCCCTCACGCCTCC	0.632													A	20971106	C	A	20971106	2	1	19	1	0	0	0	0	0	0	0	1	11932	668	24	5		5	PINK1	1	20971106	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	143621	20971106	228279515	30	14329											
HSPG2	3339	broad.mit.edu	37	chr1	22158013	22158013	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accatagtcaggatagccacCcaggtagagttcctcgttca	9	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:22158013C>A	uc001bfj.2	-	83	11435	c.11395G>T	c.(11395-11397)GGT>TGT	p.G3799C	HSPG2_uc001bfi.2_5'Flank|HSPG2_uc009vqd.2_Missense_Mutation_p.G3800C	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3799	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGATAGCCACCCAGGTAGAGT	0.637													A	22158013	C	A	22158013	3	1	19	1	0	0	0	0	1	0	0	0	7430	623	22	5	1840	5	HSPG2	1	22158013	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1186907	22158013	227092608	31	14330											
CDC42	998	broad.mit.edu	37	chr1	22417930	22417930	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccttttcagaaaggcctaAagaatgtatttgacgaagca	8	9	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:22417930A>G	uc001bfq.2	+	7	788	c.496A>G	c.(496-498)AAG>GAG	p.K166E	CDC42_uc001bfr.2_Missense_Mutation_p.K166E|CDC42_uc010odr.1_Missense_Mutation_p.K211E|CDC42_uc010ods.1_Missense_Mutation_p.K208E|CDC42_uc009vqh.2_Missense_Mutation_p.K125E	NM_001039802	NP_001034891	P60953	CDC42_HUMAN	cell division cycle 42 isoform 1	166					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			haematopoietic_and_lymphoid_tissue(1)	1		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		GAAAGGCCTAAAGAATGTATT	0.433													G	22417930	A	G	22417930	3	3	19	1	0	0	0	0	1	0	0	0	3071	15	1	3	608	3	CDC42	1	22417930	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	259917	22417930	226832691	32	14331											
EPHB2	2048	broad.mit.edu	37	chr1	23111412	23111412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggggctgagagcacatcGctggtggctgcccggggcag	19	11	0	1	rs149351655	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:23111412G>A	uc009vqj.1	+	3	799	c.654G>A	c.(652-654)TCG>TCA	p.S218S	EPHB2_uc001bge.2_Silent_p.S218S|EPHB2_uc001bgf.2_Silent_p.S218S|EPHB2_uc010odu.1_Silent_p.S218S	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	218	Extracellular (Potential).|Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AGAGCACATCGCTGGTGGCTG	0.627									Hereditary_Prostate_Cancer				A	23111412	G	A	23111412	2	1	19	1	0	0	0	0	0	0	0	1	5175	1074	38	1		1	EPHB2	1	23111412	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	693482	23111412	226139209	33	14332											
KDM1A	23028	broad.mit.edu	37	chr1	23376978	23376978	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatcagtggaccacaacagAcccagaaggtttttcttttc	7	10	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:23376978A>G	uc001bgi.2	+	3	765	c.616A>G	c.(616-618)ACC>GCC	p.T206A	KDM1A_uc001bgj.2_Missense_Mutation_p.T226A	NM_015013	NP_055828	O60341	KDM1A_HUMAN	lysine-specific histone demethylase 1 isoform b	206	SWIRM.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2						ACCACAACAGACCCAGAAGGT	0.363													G	23376978	A	G	23376978	3	3	19	1	0	0	0	0	1	0	0	0	8122	275	10	3	690	3	KDM1A	1	23376978	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	265566	23376978	225873643	34	14333											
KDM1A	23028	broad.mit.edu	37	chr1	23399803	23399803	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgatgtatatctctcatcAagagacagacaaatacttga	7	7	3	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:23399803A>G	uc001bgi.2	+	13	1718	c.1569A>G	c.(1567-1569)TCA>TCG	p.S523S	KDM1A_uc001bgj.2_Silent_p.S547S	NM_015013	NP_055828	O60341	KDM1A_HUMAN	lysine-specific histone demethylase 1 isoform b	523	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2						ATCTCTCATCAAGAGACAGAC	0.383													G	23399803	A	G	23399803	2	3	19	1	0	0	0	0	0	0	0	1	8122	117	5	3		3	KDM1A	1	23399803	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	22825	23399803	225850818	35	14334											
C1orf128	57095	broad.mit.edu	37	chr1	24113776	24113776	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgcagcttcgccgacaCgaggtgaccatctgcaatta	9	12	2	1	rs145680822	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:24113776C>T	uc001bhq.2	+	6	676	c.546C>T	c.(544-546)CAC>CAT	p.H182H	C1orf128_uc010oeb.1_Silent_p.H89H	NM_020362	NP_065095	Q9GZP4	PITH1_HUMAN	chromosome 1 open reading frame 128	182	PITH.										0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.0034)|all_lung(284;0.00519)|Breast(348;0.0222)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.97e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		TTCGCCGACACGAGGTGACCA	0.507													T	24113776	C	T	24113776	2	4	19	1	0	0	0	0	0	0	0	1	1995	535	19	1		1	C1orf128	1	24113776	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	713973	24113776	225136845	36	14335											
MYOM3	127294	broad.mit.edu	37	chr1	24397622	24397624	+	In_Frame_Del	DEL	CTC	CTC	-													attaccggcgagctgaagatCtccttgttgttgaagattag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:24397622_24397624delCTC	uc001bin.3	-	25	3296_3298	c.3133_3135delGAG	c.(3133-3135)GAGdel	p.E1045del	MYOM3_uc001bim.3_In_Frame_Del_p.E702del|MYOM3_uc001bio.2_In_Frame_Del_p.E1045del	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	1045										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		AGCTGAAGATCTCCTTGTTGTTG	0.532											OREG0013235	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	24397624	CTC	-	24397622	7	5	19	1	0	1	0	1	0	0	0	0	10093	912	32	0	1230	0	MYOM3	1	24397622	In_Frame_Del	DEL	CTC	TCGA-BR-4361-01A-01D-1158-08	283846	24397622	224852999	37	14336											
MYOM3	127294	broad.mit.edu	37	chr1	24421461	24421461	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaccgaggtgaattccacGctggggccaaacgtcgatcc	12	13	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:24421461G>A	uc001bin.3	-	9	973	c.810C>T	c.(808-810)AGC>AGT	p.S270S	MYOM3_uc001bim.3_5'UTR|MYOM3_uc001bio.2_Silent_p.S270S|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	270	Ig-like C2-type 2.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGAATTCCACGCTGGGGCCAA	0.527													A	24421461	G	A	24421461	2	1	19	1	0	0	0	0	0	0	0	1	10093	1078	38	1		1	MYOM3	1	24421461	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	23839	24421461	224829160	38	14337											
GRHL3	57822	broad.mit.edu	37	chr1	24664485	24664485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaactgtgcttgcagagtGtggtgatggttgtcttcgac	13	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:24664485G>A	uc001biy.2	+	7	905	c.859G>A	c.(859-861)GTG>ATG	p.V287M	GRHL3_uc001bix.2_Missense_Mutation_p.V282M|GRHL3_uc001biz.2_Missense_Mutation_p.V189M	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	282					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CTTGCAGAGTGTGGTGATGGT	0.572													A	24664485	G	A	24664485	3	1	19	1	0	0	0	0	1	0	0	0	6765	1377	48	4	906	4	GRHL3	1	24664485	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	243024	24664485	224586136	39	14338											
MAN1C1	57134	broad.mit.edu	37	chr1	26013011	26013011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactaacaaaagatggctaCgagggtaacatgttcggtga	11	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:26013011C>T	uc001bkm.2	+	2	951	c.621C>T	c.(619-621)TAC>TAT	p.Y207Y	MAN1C1_uc009vry.1_Silent_p.Y27Y	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	207	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(1)	1		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AAGATGGCTACGAGGGTAACA	0.473													T	26013011	C	T	26013011	2	4	19	1	0	0	0	0	0	0	0	1	9213	547	19	1		1	MAN1C1	1	26013011	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1348526	26013011	223237610	40	14339											
MAN1C1	57134	broad.mit.edu	37	chr1	26104629	26104630	+	Frame_Shift_Ins	INS	-	-	G													cttgctgaatgtctctcccgINSgggggctgacctacattgcc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:26104628_26104629C>CG	uc001bkm.2	+	8	1620_1621	c.1290_1291C>CG	c.(1288-1293)cccgggfs	p.P430fs	MAN1C1_uc009vry.1_Frame_Shift_Ins_p.P250fs	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	430					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.G431G(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ATGTCTCTCCCGGGGGGCTGAC	0.639													G	26104630	-	G	26104629	7	5	19	1	0	1	1	0	0	0	0	0	9213	1116	39	0	1325	0	MAN1C1	1	26104629	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	91618	26104629	223145992	41	14340											
C1orf135	79000	broad.mit.edu	37	chr1	26164013	26164013	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttctccaggaaggagtgtTagcattttggtgcctggttt	12	7	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:26164013T>C	uc001bkw.1	-	2	111	c.111A>G	c.(109-111)CTA>CTG	p.L37L		NM_024037	NP_076942	Q9H7T9	CA135_HUMAN	aurora A-binding protein	37											0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00521)|all_lung(284;0.00764)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.117)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.28e-25)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000787)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGGAGTGTTAGCATTTTGG	0.363													C	26164013	T	C	26164013	2	2	19	1	0	0	0	0	0	0	0	1	1999	1741	61	3		3	C1orf135	1	26164013	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	59384	26164013	223086608	42	14341											
ARID1A	8289	broad.mit.edu	37	chr1	27087503	27087503	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctcacctgcctggcatcCgaggcccttccccgtcccct	7	23	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:27087503C>T	uc001bmv.1	+	5	2450	c.2077C>T	c.(2077-2079)CGA>TGA	p.R693*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.R693*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.R693*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.R310*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	693					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCTGGCATCCGAGGCCCTTC	0.602			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								T	27087503	C	T	27087503	4	4	19	1	0	0	0	0	0	1	0	0	913	644	23	1	2095	1	ARID1A	1	27087503	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	923490	27087503	222163118	43	14342											
ARID1A	8289	broad.mit.edu	37	chr1	27106804	27106804	+	Frame_Shift_Del	DEL	C	C	-													tggacctgattctggccacaCcccccttcagccgcctggag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:27106803_27106803AC>A	uc001bmv.1	+	19	6787	c.6414_6414AC>A	c.(6412-6414)acafs	p.T2138fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.T1921fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.T984fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.T466fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.T380fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2138					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTCTGGCCACACCCCCCTTCA	0.587			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27106804	C	-	27106804	7	5	19	1	0	1	0	1	0	0	0	0	913	507	18	0	6493	0	ARID1A	1	27106804	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	19301	27106804	222143817	44	14343											
PIGV	55650	broad.mit.edu	37	chr1	27121133	27121133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctttgccactggggtacGctccaacgggctggtcagtg	14	12	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:27121133G>A	uc001bmz.2	+	3	939	c.608G>A	c.(607-609)CGC>CAC	p.R203H	PIGV_uc001bmy.2_Intron|PIGV_uc009vso.2_Missense_Mutation_p.R203H|PIGV_uc010ofg.1_Intron|PIGV_uc001bna.2_Missense_Mutation_p.R203H	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan class V	203	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			ovary(1)	1		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		ACTGGGGTACGCTCCAACGGG	0.527													A	27121133	G	A	27121133	3	1	19	1	0	0	0	0	1	0	0	0	11901	1087	38	1	614	1	PIGV	1	27121133	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	14329	27121133	222129488	45	14344											
C1orf172	126695	broad.mit.edu	37	chr1	27278443	27278444	+	Frame_Shift_Ins	INS	-	-	G													gctggccatcccgccggctgINSgggggtgcacgatcagggct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:27278442_27278443T>TG	uc001bni.2	-	1	522_523	c.429_430A>CA	c.(427-432)cccagcfs	p.P143fs	BC016143_uc021ojq.1_Intron	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.	143										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TCCCGCCGGCTGGGGGGTGCAC	0.634													G	27278444	-	G	27278443	7	5	19	1	0	1	1	0	0	0	0	0	2013	1335	47	0	779	0	C1orf172	1	27278443	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	157310	27278443	221972178	46	14345											
MAP3K6	9064	broad.mit.edu	37	chr1	27688286	27688286	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgggcacggcgtggtggCcctccagggggctctggcgt	19	11	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:27688286C>T	uc001bny.1	-	10	1737	c.1488G>A	c.(1486-1488)GGG>GGA	p.G496G	MAP3K6_uc009vsw.1_Silent_p.G488G|MAP3K6_uc001bnz.1_Silent_p.G19G	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	496					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGCGTGGTGGCCCTCCAGGGG	0.612													T	27688286	C	T	27688286	2	4	19	1	0	0	0	0	0	0	0	1	9254	726	26	2		2	MAP3K6	1	27688286	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	409843	27688286	221562335	47	14346											
GPR3	2827	broad.mit.edu	37	chr1	27721144	27721144	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccacctctctacacctatcTtaccttgctccctgccacct	2	20	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:27721144T>C	uc001bod.2	+	2	937	c.842T>C	c.(841-843)CTT>CCT	p.L281P		NM_005281	NP_005272	P46089	GPR3_HUMAN	G protein-coupled receptor 3	281	Helical; Name=7; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				ovary(1)	1		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		TACACCTATCTTACCTTGCTC	0.572													C	27721144	T	C	27721144	3	2	19	1	0	0	0	0	1	0	0	0	6686	1609	56	3	844	3	GPR3	1	27721144	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	32858	27721144	221529477	48	14347											
AHDC1	27245	broad.mit.edu	37	chr1	27875576	27875576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggtggggcatagccggcGctgtgggcgctgctgggtga	22	9	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:27875576G>A	uc009vsy.2	-	6	4020	c.3051C>T	c.(3049-3051)AGC>AGT	p.S1017S	AHDC1_uc009vsz.1_Silent_p.S1017S	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1017							DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CATAGCCGGCGCTGTGGGCGC	0.662													A	27875576	G	A	27875576	2	1	19	1	0	0	0	0	0	0	0	1	412	1078	38	1		1	AHDC1	1	27875576	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	154432	27875576	221375045	49	14348											
PTAFR	5724	broad.mit.edu	37	chr1	28477221	28477221	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgacgcccaggaaggccacAgagcagtaggtgttgatgaa	14	8	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:28477221A>G	uc001bpl.2	-	2	439	c.312T>C	c.(310-312)TCT>TCC	p.S104S	PTAFR_uc001bpm.3_Silent_p.S104S|PTAFR_uc009vte.2_Silent_p.S104S	NM_000952	NP_000943	P25105	PTAFR_HUMAN	platelet-activating factor receptor	104	Helical; Name=3; (Potential).				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAGGCCACAGAGCAGTAGG	0.527													G	28477221	A	G	28477221	2	3	19	1	0	0	0	0	0	0	0	1	12723	175	7	3		3	PTAFR	1	28477221	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	601645	28477221	220773400	50	14349											
GMEB1	10691	broad.mit.edu	37	chr1	29016643	29016643	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagctgggtcggagaacaaCacggcagttgtagcagtaga	15	7	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:29016643C>A	uc001bra.2	+	3	324	c.186C>A	c.(184-186)AAC>AAA	p.N62K	GMEB1_uc001bqz.2_Missense_Mutation_p.N52K|GMEB1_uc001brb.2_Missense_Mutation_p.N52K	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CGGAGAACAACACGGCAGTTG	0.323													A	29016643	C	A	29016643	3	1	19	1	0	0	0	0	1	0	0	0	6487	477	17	5	192	5	GMEB1	1	29016643	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	539422	29016643	220233978	51	14350											
SFRS4	6429	broad.mit.edu	37	chr1	29475692	29475692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctttcttgctccggctccGactctggctccggctccggc	10	18	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:29475692G>A	uc001bro.2	-	6	1088	c.715C>T	c.(715-717)CGG>TGG	p.R239W	SFRS4_uc010ofy.1_Missense_Mutation_p.S137L	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	splicing factor, arginine/serine-rich 4	239	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding				0		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)		ctccggctccgactctggctc	0.463													A	29475692	G	A	29475692	3	1	19	1	0	0	0	0	1	0	0	0	14179	1057	37	1	773	1	SFRS4	1	29475692	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	459049	29475692	219774929	52	14351											
PTPRU	10076	broad.mit.edu	37	chr1	29639170	29639170	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggctttcatccggcgcgTgaaggcctccaccccacctg	11	17	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:29639170T>C	uc001bru.2	+	23	3319	c.3209T>C	c.(3208-3210)GTG>GCG	p.V1070A	PTPRU_uc001brv.2_Missense_Mutation_p.V1066A|PTPRU_uc001brw.2_Missense_Mutation_p.V1060A|PTPRU_uc009vtq.2_Missense_Mutation_p.V1066A|PTPRU_uc009vtr.2_Missense_Mutation_p.V1057A	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1070	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ATCCGGCGCGTGAAGGCCTCC	0.647													C	29639170	T	C	29639170	3	2	19	1	0	0	0	0	1	0	0	0	12813	1696	59	3	3321	3	PTPRU	1	29639170	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	163478	29639170	219611451	53	14352											
MATN1	4146	broad.mit.edu	37	chr1	31189044	31189044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccagcttgtctgacaCgtccagcgtatccacgatct	10	14	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:31189044C>T	uc001brz.2	-	5	953	c.919G>A	c.(919-921)GTG>ATG	p.V307M	uc001bsb.1_5'Flank|MATN1_uc001bsa.1_Missense_Mutation_p.V225M	NM_002379	NP_002370	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein precursor	307	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)	1		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TTGTCTGACACGTCCAGCGTA	0.562													T	31189044	C	T	31189044	3	4	19	1	0	0	0	0	1	0	0	0	9333	536	19	1	587	1	MATN1	1	31189044	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1549874	31189044	218061577	54	14353											
MATN1	4146	broad.mit.edu	37	chr1	31194406	31194406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccttggagacatgagccCgcagcgagaactcctgcttc	12	14	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:31194406C>T	uc001brz.2	-	2	321	c.287G>A	c.(286-288)CGG>CAG	p.R96Q	uc001bsb.1_RNA|MATN1_uc001bsa.1_5'Flank	NM_002379	NP_002370	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein precursor	96	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)	1		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GACATGAGCCCGCAGCGAGAA	0.642													T	31194406	C	T	31194406	3	4	19	1	0	0	0	0	1	0	0	0	9333	652	23	1	1231	1	MATN1	1	31194406	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	5362	31194406	218056215	55	14354											
SDC3	9672	broad.mit.edu	37	chr1	31349583	31349583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggtgggcggggagggcGcctcgggggtagtggcccgt	23	10	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:31349583G>A	uc001bse.2	-	3	733	c.686C>T	c.(685-687)GCG>GTG	p.A229V	SDC3_uc001bsd.2_Missense_Mutation_p.A171V	NM_014654	NP_055469	O75056	SDC3_HUMAN	syndecan 3	229	Extracellular (Potential).|Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGGAGGGCGCCTCGGGGGT	0.672													A	31349583	G	A	31349583	3	1	19	1	0	0	0	0	1	0	0	0	13953	1087	38	1	654	1	SDC3	1	31349583	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	155177	31349583	217901038	56	14355											
SNRNP40	9410	broad.mit.edu	37	chr1	31769597	31769597	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacgcttctgctgttctatcAtggcggcaaccggtctcttc	9	13	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:31769597A>G	uc001bso.2	-	1	48	c.2T>C	c.(1-3)ATG>ACG	p.M1T	SNRNP40_uc010oge.1_Missense_Mutation_p.M1T|ZCCHC17_uc001bsp.1_5'Flank|ZCCHC17_uc001bsq.1_5'Flank|ZCCHC17_uc010ogf.1_5'Flank|ZCCHC17_uc009vtu.1_5'Flank|ZCCHC17_uc001bsr.1_5'Flank|ZCCHC17_uc009vtv.1_5'Flank	NM_004814	NP_004805	Q96DI7	SNR40_HUMAN	WD repeat domain 57 (U5 snRNP specific)	1						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding				0						CTGTTCTATCATGGCGGCAAC	0.622													G	31769597	A	G	31769597	3	3	19	1	0	0	0	0	1	0	0	0	14856	217	8	3	1111	3	SNRNP40	1	31769597	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	420014	31769597	217481024	57	14356											
ZCCHC17	51538	broad.mit.edu	37	chr1	31821730	31821730	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgggactaaatactctctgaTacctgatgaggaagaggaaa	11	6	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:31821730T>A	uc001bsp.1	+	7	609	c.473T>A	c.(472-474)ATA>AAA	p.I158K	ZCCHC17_uc001bsq.1_Missense_Mutation_p.I150K|ZCCHC17_uc010ogf.1_Missense_Mutation_p.I160K|ZCCHC17_uc009vtu.1_Missense_Mutation_p.I134K|ZCCHC17_uc001bsr.1_Missense_Mutation_p.I158K|ZCCHC17_uc009vtv.1_Missense_Mutation_p.I134K	NM_016505	NP_057589	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	158						nucleolus	RNA binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		TACTCTCTGATACCTGATGAG	0.413													A	31821730	T	A	31821730	3	1	19	1	0	0	0	0	1	0	0	0	17582	1406	49	5	495	5	ZCCHC17	1	31821730	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	52133	31821730	217428891	58	14357											
HCRTR1	3061	broad.mit.edu	37	chr1	32087173	32087173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcctatttccagatattcCgcaagctctggggccgccag	11	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:32087173C>T	uc009vtx.2	+	6	1103	c.718C>T	c.(718-720)CGC>TGC	p.R240C	HCRTR1_uc001btb.2_Missense_Mutation_p.R65C|HCRTR1_uc001btc.3_Missense_Mutation_p.R154C|HCRTR1_uc001btd.2_Missense_Mutation_p.R240C|HCRTR1_uc010ogl.1_Missense_Mutation_p.R240C	NM_001525	NP_001516	O43613	OX1R_HUMAN	orexin receptor 1	240	Cytoplasmic (Potential).				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				ovary(1)	1		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CCAGATATTCCGCAAGCTCTG	0.587													T	32087173	C	T	32087173	3	4	19	1	0	0	0	0	1	0	0	0	7001	652	23	1	732	1	HCRTR1	1	32087173	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	265443	32087173	217163448	59	14358											
COL16A1	1307	broad.mit.edu	37	chr1	32131193	32131193	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcactcaccggtgggccCggaaagcctggctggccttg	13	14	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:32131193C>T	uc001btk.1	-	55	3848	c.3483G>A	c.(3481-3483)CCG>CCA	p.P1161P	COL16A1_uc001bti.1_5'UTR|COL16A1_uc001btj.1_Silent_p.P959P	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	1161	Triple-helical region 2 (COL2) with 2 imperfections.			P -> T (in Ref. 1; AAA58427).	cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCGGTGGGCCCGGAAAGCCTG	0.627													T	32131193	C	T	32131193	2	4	19	1	0	0	0	0	0	0	0	1	3673	639	23	1		1	COL16A1	1	32131193	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	44020	32131193	217119428	60	14359											
KHDRBS1	10657	broad.mit.edu	37	chr1	32502514	32502514	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatctttcgttcccaggatAtgatggatgatatctgtcag	10	7	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:32502514A>G	uc001bub.2	+	5	881	c.775A>G	c.(775-777)ATG>GTG	p.M259V	KHDRBS1_uc001bua.1_Missense_Mutation_p.M220V|KHDRBS1_uc001buc.1_RNA	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal	259					cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TTCCCAGGATATGATGGATGA	0.478													G	32502514	A	G	32502514	3	3	19	1	0	0	0	0	1	0	0	0	8146	449	16	3	793	3	KHDRBS1	1	32502514	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	371321	32502514	216748107	61	14360											
ZBTB8A	653121	broad.mit.edu	37	chr1	33060697	33060697	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagtgcccgtactgcacacAtgtggtgaagcggaaggcag	14	10	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:33060697A>C	uc001bvn.2	+	4	1351	c.866A>C	c.(865-867)CAT>CCT	p.H289P	ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_Missense_Mutation_p.H289P	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	289	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TACTGCACACATGTGGTGAAG	0.453													C	33060697	A	C	33060697	3	2	19	1	0	0	0	0	1	0	0	0	17553	217	8	5	872	5	ZBTB8A	1	33060697	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	558183	33060697	216189924	62	14361											
TMEM54	113452	broad.mit.edu	37	chr1	33363782	33363782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagtactgcagagccaccGcatcttgaggggtgcccacg	13	14	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:33363782G>A	uc001bwi.1	-	2	269	c.155C>T	c.(154-156)GCG>GTG	p.A52V	TMEM54_uc001bwj.1_Missense_Mutation_p.A52V|TMEM54_uc001bwk.1_Missense_Mutation_p.A52V	NM_033504	NP_277039	Q969K7	TMM54_HUMAN	transmembrane protein 54	52						integral to membrane					0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CAGAGCCACCGCATCTTGAGG	0.622													A	33363782	G	A	33363782	3	1	19	1	0	0	0	0	1	0	0	0	16177	1087	38	1	533	1	TMEM54	1	33363782	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	303085	33363782	215886839	63	14362											
TRIM62	55223	broad.mit.edu	37	chr1	33612784	33612784	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttctgcctggactagatGcggacggtgttgatccgcag	13	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:33612784G>A	uc001bxb.2	-	5	2060	c.1422C>T	c.(1420-1422)CGC>CGT	p.R474R		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	474	B30.2/SPRY.			R -> L (in Ref. 1; BAA91792).		intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)				TGGACTAGATGCGGACGGTGT	0.463													A	33612784	G	A	33612784	2	1	19	1	0	0	0	0	0	0	0	1	16534	1306	46	2		2	TRIM62	1	33612784	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	249002	33612784	215637837	64	14363											
PHC2	1912	broad.mit.edu	37	chr1	33836082	33836082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggctggggaagacgtgttGcccaagagcacagcctgctg	16	10	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:33836082G>A	uc001bxg.1	-	4	570	c.516C>T	c.(514-516)GGC>GGT	p.G172G	PHC2_uc001bxh.1_Silent_p.G172G|PHC2_uc009vuh.1_Silent_p.G172G|PHC2_uc001bxi.1_Silent_p.G172G	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	polyhomeotic-like 2 isoform a	172					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAGACGTGTTGCCCAAGAGCA	0.627													A	33836082	G	A	33836082	2	1	19	1	0	0	0	0	0	0	0	1	11817	1306	46	2		2	PHC2	1	33836082	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	223298	33836082	215414539	65	14364											
HMGB4	127540	broad.mit.edu	37	chr1	34329879	34329879	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagaaacaaattcaaggaGcagcagccaaatacctatgt	7	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:34329879G>A	uc001bxp.2	+	2	1830	c.87G>A	c.(85-87)GAG>GAA	p.E29E	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.2_5'UTR	NM_145205	NP_660206	Q8WW32	HMGB4_HUMAN	HMG2 like isoform 1	29						nucleus	DNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AATTCAAGGAGCAGCAGCCAA	0.393													A	34329879	G	A	34329879	2	1	19	1	0	0	0	0	0	0	0	1	7228	962	34	2		2	HMGB4	1	34329879	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	493797	34329879	214920742	66	14365											
CSMD2	114784	broad.mit.edu	37	chr1	34401359	34401359	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaccccttgctggccacctAcctctgcaggaaggcagggg	13	14	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:34401359A>T	uc001bxn.1	-	4	621	c.592_splice	c.e4+1	p.A198_splice	CSMD2_uc001bxm.1_Splice_Site_p.A238_splice	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2							integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTGGCCACCTACCTCTGCAGG	0.627													T	34401359	A	T	34401359	5	4	19	1	0	0	0	0	0	0	1	0	3945	405	14	5	10133	5	CSMD2	1	34401359	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	71480	34401359	214849262	67	14366											
GJA4	2701	broad.mit.edu	37	chr1	35260745	35260745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccctctcttcctggacCcaccccctcagaatggccaa	7	20	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:35260745C>T	uc001bya.2	+	2	1019	c.931C>T	c.(931-933)CCA>TCA	p.P311S	GJA4_uc009vul.2_Missense_Mutation_p.P387S|GJA4_uc009vum.1_Missense_Mutation_p.P311S	NM_002060	NP_002051	P35212	CXA4_HUMAN	connexin 37	311	Cytoplasmic (Potential).				cell-cell junction assembly	integral to plasma membrane				central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CTTCCTGGACCCACCCCCTCA	0.572													T	35260745	C	T	35260745	3	4	19	1	0	0	0	0	1	0	0	0	6403	623	22	4	933	4	GJA4	1	35260745	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	859386	35260745	213989876	68	14367											
ZMYM4	9202	broad.mit.edu	37	chr1	35825031	35825032	+	Frame_Shift_Ins	INS	-	-	T													attcaaggttgaaaagcagtINSttttttgataaagcaggtaa							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:35825030_35825031G>GT	uc001byt.3	+	2	670_671	c.590_591G>GT	c.(589-591)agtfs	p.S197fs	ZMYM4_uc009vuu.3_Frame_Shift_Ins_p.S165fs|ZMYM4_uc001byu.3_Intron|ZMYM4_uc009vuv.3_5'UTR	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	197					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGAAAAGCAGTTTTTTTGATA	0.297													T	35825032	-	T	35825031	7	5	19	1	0	1	1	0	0	0	0	0	17699	1722	60	0	601	0	ZMYM4	1	35825031	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	564286	35825031	213425590	69	14368											
KIAA0319L	79932	broad.mit.edu	37	chr1	35916003	35916003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagtccagaggtagctgaCtattcccttgtcatctgagg	11	10	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:35916003C>T	uc001byx.2	-	14	2428	c.2170G>A	c.(2170-2172)GTC>ATC	p.V724I	KIAA0319L_uc001byw.2_Missense_Mutation_p.V166I|KIAA0319L_uc010ohv.1_Missense_Mutation_p.V366I	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	dyslexia susceptibility 2-like	724	PKD 5.|Extracellular (Potential).					cytoplasmic vesicle part|integral to membrane	protein binding			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGGTAGCTGACTATTCCCTTG	0.557													T	35916003	C	T	35916003	3	4	19	1	0	0	0	0	1	0	0	0	8169	565	20	4	1011	4	KIAA0319L	1	35916003	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	90972	35916003	213334618	70	14369											
KIAA0319L	79932	broad.mit.edu	37	chr1	35928292	35928292	+	Frame_Shift_Del	DEL	G	G	-													tgaggtgacacaatagcaatGgggggccgattcttacgggg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:35928291_35928291TG>T	uc001byx.3	-	7	1483	c.1225_1225CA>A	c.(1225-1227)attfs	p.I409fs	KIAA0319L_uc010ohv.1_Frame_Shift_Del_p.I51fs|KIAA0319L_uc010ohw.2_Non-coding_Transcript	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	409	PKD 2.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACAATAGCAATGGGGGGCCGA	0.453													-	35928292	G	-	35928292	7	5	19	1	0	1	0	1	0	0	0	0	8169	1335	47	0	1981	0	KIAA0319L	1	35928292	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	12289	35928292	213322329	71	14370											
EIF2C1	26523	broad.mit.edu	37	chr1	36379873	36379873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaaaaccttctatcacaGcagtgagtgatattctgtag	9	7	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:36379873G>A	uc001bzl.2	+	14	2044	c.1831G>A	c.(1831-1833)GCA>ACA	p.A611T	EIF2C1_uc001bzk.2_Missense_Mutation_p.A536T|EIF2C1_uc009vuy.2_RNA	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	611	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTCTATCACAGCAGTGAGTGA	0.502													A	36379873	G	A	36379873	3	1	19	1	0	0	0	0	1	0	0	0	5005	971	34	2	1885	2	EIF2C1	1	36379873	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	451581	36379873	212870748	72	14371											
EIF2C1	26523	broad.mit.edu	37	chr1	36383300	36383300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaaacgccatcacacccGccttttctgtgctgacaaga	8	14	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:36383300G>A	uc001bzl.2	+	16	2348	c.2135G>A	c.(2134-2136)CGC>CAC	p.R712H	EIF2C1_uc001bzk.2_Missense_Mutation_p.R637H|EIF2C1_uc009vuy.2_RNA	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	712	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CATCACACCCGCCTTTTCTGT	0.507													A	36383300	G	A	36383300	3	1	19	1	0	0	0	0	1	0	0	0	5005	1087	38	1	2197	1	EIF2C1	1	36383300	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3427	36383300	212867321	73	14372											
COL8A2	1296	broad.mit.edu	37	chr1	36564002	36564002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccgtgaaacccggctcaCccttgggcccagttggtcca	11	16	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:36564002C>T	uc001bzv.1	-	2	1287	c.1280G>A	c.(1279-1281)GGT>GAT	p.G427D	COL8A2_uc001bzw.1_Missense_Mutation_p.G362D	NM_005202	NP_005193	P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2 precursor	427	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACCCGGCTCACCCTTGGGCCC	0.697													T	36564002	C	T	36564002	3	4	19	1	0	0	0	0	1	0	0	0	3706	507	18	4	835	4	COL8A2	1	36564002	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	180702	36564002	212686619	74	14373											
C1orf113	79729	broad.mit.edu	37	chr1	36786335	36786335	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaatgaaggagttgatgtaAcgtcgctgaggggcgaggtg	18	4	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:36786335A>T	uc010oia.1	+	14	2099	c.2071A>T	c.(2071-2073)ACG>TCG	p.T691S	C1orf113_uc010oib.1_Missense_Mutation_p.T580S|C1orf113_uc010oic.1_RNA|C1orf113_uc009vuz.1_Missense_Mutation_p.T337S	NM_001162530	NP_001156002	A4FU49	SH321_HUMAN	SH3 domain-containing protein C1orf113 isoform	575	Potential.										0		Myeloproliferative disorder(586;0.0393)				AGTTGATGTAACGTCGCTGAG	0.602													T	36786335	A	T	36786335	3	4	19	1	0	0	0	0	1	0	0	0	1986	43	2	5	2125	5	C1orf113	1	36786335	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	222333	36786335	212464286	75	14374											
CSF3R	1441	broad.mit.edu	37	chr1	36935310	36935310	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcctccaggtcttgttgcTattgctcgcgctgggggggc	14	12	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:36935310T>C	uc001caw.1	-	11	1595	c.1417A>G	c.(1417-1419)AGC>GGC	p.S473G	CSF3R_uc001cat.1_Missense_Mutation_p.S36G|CSF3R_uc009vvc.1_Missense_Mutation_p.S36G|CSF3R_uc001cau.1_Translation_Start_Site|CSF3R_uc001cav.1_Missense_Mutation_p.S473G|CSF3R_uc001cax.1_Missense_Mutation_p.S473G|CSF3R_uc001cay.1_Missense_Mutation_p.S473G	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	473	Extracellular (Potential).|Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GTCTTGTTGCTATTGCTCGCG	0.632													C	36935310	T	C	36935310	3	2	19	1	0	0	0	0	1	0	0	0	3937	1522	53	3	1311	3	CSF3R	1	36935310	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	148975	36935310	212315311	76	14375											
SNIP1	79753	broad.mit.edu	37	chr1	38006327	38006327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctgtgctgccgatcctcCcgtcctctccggggatgatc	10	17	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:38006327C>T	uc001cbi.2	-	3	430	c.357G>A	c.(355-357)CGG>CGA	p.R119R	SNIP1_uc010oid.1_Intron	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	119	Arg-rich.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			upper_aerodigestive_tract(1)|lung(1)	2		Myeloproliferative disorder(586;0.0393)				GCCGATCCTCCCGTCCTCTCC	0.507													T	38006327	C	T	38006327	2	4	19	1	0	0	0	0	0	0	0	1	14848	610	22	4		4	SNIP1	1	38006327	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1071017	38006327	211244294	77	14376											
DNALI1	7802	broad.mit.edu	37	chr1	38027281	38027281	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacgagagcagcgtggcgtTtggcatgaggaaggcactgc	17	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:38027281T>C	uc001cbj.2	+	4	597	c.587T>C	c.(586-588)TTT>TCT	p.F196S	DNALI1_uc010oie.1_RNA	NM_003462	NP_003453	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	174					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCGTGGCGTTTGGCATGAGG	0.587											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	38027281	T	C	38027281	3	2	19	1	0	0	0	0	1	0	0	0	4659	1841	64	3	601	3	DNALI1	1	38027281	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	20954	38027281	211223340	78	14377											
EPHA10	284656	broad.mit.edu	37	chr1	38185714	38185714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcgggagcggcccatagcGctgggctccggccactctgt	14	15	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:38185714G>A	uc009vvi.2	-	14	2515	c.2429C>T	c.(2428-2430)GCG>GTG	p.A810V	EPHA10_uc001cbt.2_RNA|EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	810	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCCCATAGCGCTGGGCTCCG	0.632													A	38185714	G	A	38185714	3	1	19	1	0	0	0	0	1	0	0	0	5166	1087	38	1	613	1	EPHA10	1	38185714	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	158433	38185714	211064907	79	14378											
SF3A3	10946	broad.mit.edu	37	chr1	38453481	38453481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttatcatcatacaaatcccTcaggttcccactgacctcca	3	16	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:38453481T>C	uc001cci.2	-	3	296	c.172A>G	c.(172-174)AGG>GGG	p.R58G	SF3A3_uc010oik.1_Intron	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3	58					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TACAAATCCCTCAGGTTCCCA	0.438													C	38453481	T	C	38453481	3	2	19	1	0	0	0	0	1	0	0	0	14148	1550	54	3	1393	3	SF3A3	1	38453481	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	267767	38453481	210797140	80	14379											
MACF1	23499	broad.mit.edu	37	chr1	39549962	39549962	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cggtcttgtcggagtgagcgAtcttacaggagcgagcggtc	16	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:39549962A>T	uc010oir.1	+	2	222	c.59A>T	c.(58-60)GAT>GTT	p.D20V	MACF1_uc010ois.1_Silent_p.R24R			Q9UPN3	MACF1_HUMAN	Homo sapiens mRNA for actin binding protein ABP620, complete cds.	Error:Variant_position_missing_in_Q9UPN3_after_alignment					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAGTGAGCGATCTTACAGGA	0.627													T	39549962	A	T	39549962	3	4	19	1	0	0	0	0	1	0	0	0	9144	320	12	5	74	5	MACF1	1	39549962	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1096481	39549962	209700659	81	14380											
MACF1	23499	broad.mit.edu	37	chr1	39750009	39750009	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatattaattttataggcacTttataaccaatatatacact	2	6	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:39750009T>C	uc010ois.1	+	12	1260	c.1055T>C	c.(1054-1056)CTT>CCT	p.L352P	MACF1_uc001cda.1_Missense_Mutation_p.L260P	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	352					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTATAGGCACTTTATAACCAA	0.343													C	39750009	T	C	39750009	3	2	19	1	0	0	0	0	1	0	0	0	9144	1609	56	3	1093	3	MACF1	1	39750009	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	200047	39750009	209500612	82	14381											
MACF1	23499	broad.mit.edu	37	chr1	39853184	39853184	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggaagagcttagtaaaaaAactgcagacagacaatccag	10	7	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:39853184A>C	uc010oiu.1	+	22	10121	c.9990A>C	c.(9988-9990)AAA>AAC	p.K3330N	MACF1_uc010ois.1_Missense_Mutation_p.K2828N|MACF1_uc001cda.1_Missense_Mutation_p.K2715N|MACF1_uc001cdc.1_Missense_Mutation_p.K1894N	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4895	Spectrin 4.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTAGTAAAAAAACTGCAGACA	0.423													C	39853184	A	C	39853184	3	2	19	1	0	0	0	0	1	0	0	0	9144	11	1	5	14845	5	MACF1	1	39853184	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	103175	39853184	209397437	83	14382											
HPCAL4	51440	broad.mit.edu	37	chr1	40149793	40149793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgcggaaagcgtgctgcGcgaacttggaggcgtcgccg	18	10	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:40149793G>A	uc001cdr.2	-	3	314	c.194C>T	c.(193-195)GCG>GTG	p.A65V	HPCAL4_uc010oix.1_Intron	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	hippocalcin-like protein 4	65	EF-hand 2.				central nervous system development	intracellular	calcium ion binding			central_nervous_system(1)	1	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCGTGCTGCGCGAACTTGGA	0.682													A	40149793	G	A	40149793	3	1	19	1	0	0	0	0	1	0	0	0	7331	1087	38	1	389	1	HPCAL4	1	40149793	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	296609	40149793	209100828	84	14383											
PPT1	5538	broad.mit.edu	37	chr1	40546147	40546147	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggggtcatgccagtattcGgcttgcacgaggctgtagga	15	8	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:40546147G>A	uc001cfb.2	-	6	781	c.549C>T	c.(547-549)GCC>GCT	p.A183A	PPT1_uc010ojf.1_Silent_p.A133A|PPT1_uc010ojg.1_Silent_p.A80A|PPT1_uc009vwa.2_RNA	NM_000310	NP_000301	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1 isoform 1	183					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			ovary(1)	1	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCCAGTATTCGGCTTGCACGA	0.512													A	40546147	G	A	40546147	2	1	19	1	0	0	0	0	0	0	0	1	12411	1103	39	1		1	PPT1	1	40546147	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	396354	40546147	208704474	85	14384											
DEM1	64789	broad.mit.edu	37	chr1	40981063	40981063	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttgtctctaacactgtcaGacctcccagttattgatatc	5	12	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:40981063G>A	uc001cfp.2	+	3	1052	c.847G>A	c.(847-849)GAC>AAC	p.D283N	DEM1_uc001cfq.2_Missense_Mutation_p.D283N|DEM1_uc001cfr.2_Missense_Mutation_p.D283N|DEM1_uc001cfs.2_Missense_Mutation_p.D283N	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	defects in morphology 1 homolog	283							DNA binding|exonuclease activity				0						AACACTGTCAGACCTCCCAGT	0.493													A	40981063	G	A	40981063	3	1	19	1	0	0	0	0	1	0	0	0	4425	942	33	4	849	4	DEM1	1	40981063	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	434916	40981063	208269558	86	14385											
SLC2A1	6513	broad.mit.edu	37	chr1	43393358	43393358	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcaatggcagctggacgtGgaccctggctgaagagttca	15	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:43393358G>T	uc001cik.2	-	9	1721	c.1196C>A	c.(1195-1197)CCA>CAA	p.P399Q		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	399	Cytoplasmic (Potential).				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	AGCTGGACGTGGACCCTGGCT	0.547													T	43393358	G	T	43393358	3	4	19	1	0	0	0	0	1	0	0	0	14538	1348	47	5	290	5	SLC2A1	1	43393358	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2412295	43393358	205857263	87	14386											
WDR65	149465	broad.mit.edu	37	chr1	43647224	43647224	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcagagaagagtcagggCatgttggccttgtccatcag	14	9	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:43647224C>T	uc001cip.1	+	3	298	c.177C>T	c.(175-177)GGC>GGT	p.G59G	EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Silent_p.G48G|WDR65_uc001ciq.1_Silent_p.G59G	NM_152498	NP_689711	Q96MR6	WDR65_HUMAN	WD repeat domain 65	59										skin(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGAGTCAGGGCATGTTGGCCT	0.493													T	43647224	C	T	43647224	2	4	19	1	0	0	0	0	0	0	0	1	17313	697	25	2		2	WDR65	1	43647224	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	253866	43647224	205603397	88	14387											
KIAA0467	23334	broad.mit.edu	37	chr1	43906258	43906258	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagcttctgggatatgctgGtaatggaagaagtggtgaag	16	3	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:43906258G>A	uc001cjk.1	+	37	5109	c.4647_splice	c.e37+1	p.L1549_splice		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334							peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGATATGCTGGTAATGGAAGA	0.617													A	43906258	G	A	43906258	5	1	19	1	0	0	0	0	0	0	1	0	8178	1275	44	4	4786	4	KIAA0467	1	43906258	Splice_Site	SNP	G	TCGA-BR-4361-01A-01D-1158-08	259034	43906258	205344363	89	14388											
PTPRF	5792	broad.mit.edu	37	chr1	44054460	44054460	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaggaggtgatgccaggCggcagcgtgaacctgacatg	16	10	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:44054460C>T	uc001cjr.2	+	8	1078	c.738C>T	c.(736-738)GGC>GGT	p.G246G	PTPRF_uc001cjs.2_Silent_p.G246G|PTPRF_uc001cju.2_5'Flank|PTPRF_uc009vwt.2_5'Flank|PTPRF_uc001cjv.2_5'Flank	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	246	Extracellular (Potential).|Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGATGCCAGGCGGCAGCGTGA	0.652													T	44054460	C	T	44054460	2	4	19	1	0	0	0	0	0	0	0	1	12801	755	27	1		1	PTPRF	1	44054460	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	148202	44054460	205196161	90	14389											
RPS8	6202	broad.mit.edu	37	chr1	45244276	45244276	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaaggccgggacagtgTggccgagcagatggctatgt	16	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:45244276T>C	uc001cmi.2	+	6	569	c.546T>C	c.(544-546)TGT>TGC	p.C182C		NM_001012	NP_001003	P62241	RS8_HUMAN	ribosomal protein S8	182					endocrine pancreas development|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CGGGACAGTGTGGCCGAGCAG	0.507													C	45244276	T	C	45244276	2	2	19	1	0	0	0	0	0	0	0	1	13661	1702	59	3		3	RPS8	1	45244276	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1189816	45244276	204006345	91	14390											
PLK3	1263	broad.mit.edu	37	chr1	45271337	45271337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcgcctgctccgggaccGcagcccagcctaggacccaa	11	18	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:45271337G>A	uc001cmn.2	+	15	2028	c.1928G>A	c.(1927-1929)CGC>CAC	p.R643H	PLK3_uc001cmo.2_RNA|BTBD19_uc010old.1_5'Flank|BTBD19_uc010ole.1_5'Flank	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	643						membrane	ATP binding|protein binding|protein serine/threonine kinase activity				0	Acute lymphoblastic leukemia(166;0.155)					CTCCGGGACCGCAGCCCAGCC	0.652													A	45271337	G	A	45271337	3	1	19	1	0	0	0	0	1	0	0	0	12097	1087	38	1	1986	1	PLK3	1	45271337	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	27061	45271337	203979284	92	14391											
EIF2B3	8891	broad.mit.edu	37	chr1	45345614	45345614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacctgtctcctcgacagGcattccagcaggcatcatag	8	16	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:45345614G>A	uc001cmt.1	-	8	978	c.851C>T	c.(850-852)GCC>GTC	p.A284V	EIF2B3_uc001cmu.1_Missense_Mutation_p.A284V|EIF2B3_uc001cmv.1_Missense_Mutation_p.A284V|EIF2B3_uc001cmw.2_Missense_Mutation_p.A284V	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B,	284					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					TCCTCGACAGGCATTCCAGCA	0.483													A	45345614	G	A	45345614	3	1	19	1	0	0	0	0	1	0	0	0	5002	1203	42	2	564	2	EIF2B3	1	45345614	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	74277	45345614	203905007	93	14392											
HECTD3	79654	broad.mit.edu	37	chr1	45472378	45472378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattacctggttggctgtgcGtacaaagaagggcaggggca	16	7	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:45472378G>A	uc009vxk.2	-	13	1809	c.1711C>T	c.(1711-1713)CGC>TGC	p.R571C	HECTD3_uc001cmx.3_5'Flank|HECTD3_uc001cmy.3_Missense_Mutation_p.R181C|HECTD3_uc010olh.1_Missense_Mutation_p.R287C	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	571	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)					TTGGCTGTGCGTACAAAGAAG	0.572													A	45472378	G	A	45472378	3	1	19	1	0	0	0	0	1	0	0	0	7041	1145	40	1	910	1	HECTD3	1	45472378	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	126764	45472378	203778243	94	14393											
ZSWIM5	57643	broad.mit.edu	37	chr1	45484973	45484973	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagctctgcaagatgctcAccagggcccgcacacctgtc	9	17	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:45484973A>G	uc001cnd.2	-	14	2939	c.2711T>C	c.(2710-2712)GTG>GCG	p.V904A		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	904							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					CAAGATGCTCACCAGGGCCCG	0.567											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	45484973	A	G	45484973	3	3	19	1	0	0	0	0	1	0	0	0	18241	159	6	3	850	3	ZSWIM5	1	45484973	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	12595	45484973	203765648	95	14394											
ZSWIM5	57643	broad.mit.edu	37	chr1	45506099	45506099	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtagatttccagttgccgcTgctgctgcaacctcagagta	10	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:45506099T>C	uc001cnd.2	-	7	1949	c.1721A>G	c.(1720-1722)CAG>CGG	p.Q574R		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	574							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					CAGTTGCCGCTGCTGCTGCAA	0.502													C	45506099	T	C	45506099	3	2	19	1	0	0	0	0	1	0	0	0	18241	1580	55	3	1868	3	ZSWIM5	1	45506099	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	21126	45506099	203744522	96	14395											
TOE1	114034	broad.mit.edu	37	chr1	45808127	45808127	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcccgccggcccctggtGctacacaatggccttataga	11	15	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:45808127G>A	uc009vxq.2	+	6	1147	c.564G>A	c.(562-564)GTG>GTA	p.V188V	MUTYH_uc001cnf.2_5'Flank|MUTYH_uc009vxo.2_5'Flank|MUTYH_uc001cng.2_5'Flank|MUTYH_uc001cnj.2_5'Flank|MUTYH_uc001cni.2_5'Flank|MUTYH_uc001cnh.2_5'Flank|MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Silent_p.V108V|TOE1_uc010oln.1_Silent_p.V194V|TOE1_uc001cnr.3_RNA	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	188						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)					GGCCCCTGGTGCTACACAATG	0.537													A	45808127	G	A	45808127	2	1	19	1	0	0	0	0	0	0	0	1	16346	1306	46	2		2	TOE1	1	45808127	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	302028	45808127	203442494	97	14396											
MAST2	23139	broad.mit.edu	37	chr1	46489481	46489481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacaagtccacccggcagCgctttgccatgaagaagatc	11	13	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:46489481C>T	uc001cov.2	+	15	1892	c.1609C>T	c.(1609-1611)CGC>TGC	p.R537C	MAST2_uc001cow.2_Missense_Mutation_p.R537C|MAST2_uc001coy.1_Missense_Mutation_p.R211C|MAST2_uc001coz.1_Missense_Mutation_p.R422C|MAST2_uc009vya.2_Missense_Mutation_p.R459C|MAST2_uc001cpa.2_RNA	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	537	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	p.R537H(1)		ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CACCCGGCAGCGCTTTGCCAT	0.572													T	46489481	C	T	46489481	3	4	19	1	0	0	0	0	1	0	0	0	9325	768	27	1	1667	1	MAST2	1	46489481	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	681354	46489481	202761140	98	14397											
FAAH	2166	broad.mit.edu	37	chr1	46874214	46874214	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccggccatgaggcgggcCgtgctggagaccaaacagag	15	13	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:46874214C>T	uc001cpu.2	+	8	1117	c.1035C>T	c.(1033-1035)GCC>GCT	p.A345A	FAAH_uc001cpv.2_RNA	NM_001441	NP_001432	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	345	Cytoplasmic (By similarity).		A -> D (in a breast cancer sample; somatic mutation).		fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	p.A345D(1)		ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	TGAGGCGGGCCGTGCTGGAGA	0.607													T	46874214	C	T	46874214	2	4	19	1	0	0	0	0	0	0	0	1	5353	639	23	1		1	FAAH	1	46874214	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	384733	46874214	202376407	99	14398											
KIAA0494	9813	broad.mit.edu	37	chr1	47155282	47155282	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaattctcactgtgggTtttattgtcaagttctgatg	8	6	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:47155282T>C	uc001cqk.3	-	6	1749	c.772A>G	c.(772-774)ACC>GCC	p.T258A	KIAA0494_uc010omh.1_Missense_Mutation_p.T258A|KIAA0494_uc010omj.1_Missense_Mutation_p.T114A|KIAA0494_uc001cql.1_Missense_Mutation_p.T258A	NM_014774	NP_055589	O75071	K0494_HUMAN	hypothetical protein LOC9813	258							calcium ion binding				0	Acute lymphoblastic leukemia(166;0.155)					TCACTGTGGGTTTTATTGTCA	0.448													C	47155282	T	C	47155282	3	2	19	1	0	0	0	0	1	0	0	0	8179	1725	60	3	739	3	KIAA0494	1	47155282	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	281068	47155282	202095339	100	14399											
SLC5A9	200010	broad.mit.edu	37	chr1	48701407	48701407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtctctccccaggtctgcGggggctgatgattgccgtga	14	12	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:48701407G>A	uc001cro.2	+	10	1200	c.1148G>A	c.(1147-1149)CGG>CAG	p.R383Q	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.R408Q|SLC5A9_uc010omt.1_Missense_Mutation_p.R397Q|SLC5A9_uc001crp.2_Missense_Mutation_p.R50Q|SLC5A9_uc010omu.1_Missense_Mutation_p.R50Q	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	383	Extracellular (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3						CCAGGTCTGCGGGGGCTGATG	0.582													A	48701407	G	A	48701407	3	1	19	1	0	0	0	0	1	0	0	0	14672	1116	39	1	1265	1	SLC5A9	1	48701407	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1546125	48701407	200549214	101	14400											
FAF1	11124	broad.mit.edu	37	chr1	51425455	51425455	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgaaaatccgccaggAtcatctcccggtccatgttg	8	14	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:51425455A>C	uc009vyx.1	-	2	92	c.29T>G	c.(28-30)ATC>AGC	p.I10S	FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Missense_Mutation_p.I10S	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	FAS-associated factor 1	10					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(3)		ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		ATCCGCCAGGATCATCTCCCG	0.627													C	51425455	A	C	51425455	3	2	19	1	0	0	0	0	1	0	0	0	5369	333	12	5	1999	5	FAF1	1	51425455	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2724048	51425455	197825166	102	14401											
RAB3B	5865	broad.mit.edu	37	chr1	52403029	52403029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcagaatgaagcccatgGccccacggtaataggctgtt	10	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:52403029G>A	uc001cth.2	-	3	409	c.284C>T	c.(283-285)GCC>GTC	p.A95V		NM_002867	NP_002858	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	95					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			ovary(1)	1						GAAGCCCATGGCCCCACGGTA	0.433													A	52403029	G	A	52403029	3	1	19	1	0	0	0	0	1	0	0	0	12932	1203	42	2	387	2	RAB3B	1	52403029	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	977574	52403029	196847592	103	14402											
PRPF38A	84950	broad.mit.edu	37	chr1	52870494	52870494	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatctggtggagaagatcAttcgaacgcgaatctatgag	11	6	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:52870494A>G	uc001ctv.3	+	1	276	c.73A>G	c.(73-75)ATT>GTT	p.I25V	ORC1L_uc001ctt.2_5'Flank|ORC1L_uc010oni.1_5'Flank|ORC1L_uc001ctu.2_5'Flank|ORC1L_uc009vzd.2_5'Flank|PRPF38A_uc001ctw.3_5'UTR	NM_032864	NP_116253	Q8NAV1	PR38A_HUMAN	PRP38 pre-mRNA processing factor 38 (yeast)	25					mRNA processing|RNA splicing	spliceosomal complex					0						GGAGAAGATCATTCGAACGCG	0.507											OREG0013487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	52870494	A	G	52870494	3	3	19	1	0	0	0	0	1	0	0	0	12567	217	8	3	75	3	PRPF38A	1	52870494	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	467465	52870494	196380127	104	14403											
ACOT11	26027	broad.mit.edu	37	chr1	55067074	55067074	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttgctgccctggattcgGccccagcccggcgtaagtgg	14	14	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:55067074G>A	uc001cxm.1	+	9	1099	c.1017G>A	c.(1015-1017)CGG>CGA	p.R339R	ACOT11_uc001cxj.1_Silent_p.R217R|ACOT11_uc001cxl.1_Silent_p.R339R	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	thioesterase, adipose associated isoform BFIT1	339					fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1						CCTGGATTCGGCCCCAGCCCG	0.667													A	55067074	G	A	55067074	2	1	19	1	0	0	0	0	0	0	0	1	149	1190	42	2		2	ACOT11	1	55067074	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2196580	55067074	194183547	105	14404											
FAM151A	338094	broad.mit.edu	37	chr1	55075118	55075118	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggggaggatgccagcagCctgcctatggctccagctgt	16	12	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:55075118C>T	uc001cxn.2	-	8	1713	c.1581G>A	c.(1579-1581)AGG>AGA	p.R527R	ACOT11_uc001cxj.1_3'UTR|ACOT11_uc001cxl.1_3'UTR|ACOT11_uc001cxm.1_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	hypothetical protein LOC338094	527						integral to membrane					0						ATGCCAGCAGCCTGCCTATGG	0.627													T	55075118	C	T	55075118	2	4	19	1	0	0	0	0	0	0	0	1	5458	738	26	2		2	FAM151A	1	55075118	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	8044	55075118	194175503	106	14405											
FAM151A	338094	broad.mit.edu	37	chr1	55081757	55081758	+	Frame_Shift_Ins	INS	-	-	G													tgttgtcactgtagatagtgINSggggggtgtgccatgatggg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:55081756_55081757T>TG	uc001cxn.3	-	2	483_484	c.351_352A>CA	c.(349-354)cccactfs	p.P117fs	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	117						integral to membrane		p.T118fs*43(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													G	55081758	-	G	55081757	7	5	19	1	0	1	1	0	0	0	0	0	5458	1335	47	0	1430	0	FAM151A	1	55081757	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	6639	55081757	194168864	107	14406											
C1orf175	374977	broad.mit.edu	37	chr1	55118738	55118738	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatggctcaggtgcctatgTtgaatctgctcccaagtcct	9	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:55118738T>C	uc010ooe.1	+	3	463	c.139T>C	c.(139-141)TTG>CTG	p.L47L	C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Silent_p.L47L|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.L47L|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	47						integral to membrane	binding				0						GGTGCCTATGTTGAATCTGCT	0.567													C	55118738	T	C	55118738	2	2	19	1	0	0	0	0	0	0	0	1	2016	1722	60	3		3	C1orf175	1	55118738	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	36981	55118738	194131883	108	14407											
TTC4	7268	broad.mit.edu	37	chr1	55182282	55182282	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatttacaggaatttgaaAaggtccccctatttatgtcg	7	9	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:55182282A>G	uc001cxx.3	+	2	174	c.121A>G	c.(121-123)AAG>GAG	p.K41E	C1orf175_uc001cxq.2_RNA|TTC4_uc001cxw.3_Missense_Mutation_p.K41E|TTC4_uc001cxv.2_Missense_Mutation_p.K52E	NM_004623	NP_004614	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	41							binding				0						GGAATTTGAAAAGGTCCCCCT	0.393													G	55182282	A	G	55182282	3	3	19	1	0	0	0	0	1	0	0	0	16707	15	1	3	127	3	TTC4	1	55182282	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	63544	55182282	194068339	109	14408											
PRKAA2	5563	broad.mit.edu	37	chr1	57169936	57169936	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagtgccatgcatattcccCcaggcctgaaacctcatcca	6	15	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:57169936C>A	uc001cyk.3	+	7	1152	c.1081C>A	c.(1081-1083)CCA>ACA	p.P361T		NM_006252	NP_006243	P54646	AAPK2_HUMAN	AMP-activated protein kinase alpha 2 catalytic	361					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(4)|ovary(1)|stomach(1)	6						GCATATTCCCCCAGGCCTGAA	0.473													A	57169936	C	A	57169936	3	1	19	1	0	0	0	0	1	0	0	0	12494	623	22	5	1107	5	PRKAA2	1	57169936	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1987654	57169936	192080685	110	14409											
MYSM1	114803	broad.mit.edu	37	chr1	59139300	59139300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accagtttccccatgggtctCggaccctacgtctccttgta	8	15	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:59139300C>T	uc009wab.1	-	11	1540	c.1517G>A	c.(1516-1518)CGA>CAA	p.R506Q	MYSM1_uc001czc.2_RNA	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	506					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(1)	1	all_cancers(7;9.36e-06)					CCATGGGTCTCGGACCCTACG	0.398													T	59139300	C	T	59139300	3	4	19	1	0	0	0	0	1	0	0	0	10101	884	31	1	1009	1	MYSM1	1	59139300	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1969364	59139300	190111321	111	14410											
HOOK1	51361	broad.mit.edu	37	chr1	60309201	60309201	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctcttttgatgatccaaAcacagtggttgcaaaaaagt	9	7	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:60309201A>G	uc009wad.2	+	10	821	c.719A>G	c.(718-720)AAC>AGC	p.N240S	HOOK1_uc001czo.2_Missense_Mutation_p.N240S|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Missense_Mutation_p.N198S	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	240	Potential.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)					GATGATCCAAACACAGTGGTT	0.333													G	60309201	A	G	60309201	3	3	19	1	0	0	0	0	1	0	0	0	7282	43	2	3	753	3	HOOK1	1	60309201	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1169901	60309201	188941420	112	14411											
HOOK1	51361	broad.mit.edu	37	chr1	60331559	60331559	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatagtacaaaagatcaatgAacttgaagctgctcttcaga	7	7	3	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:60331559A>G	uc009wad.2	+	20	1862	c.1760A>G	c.(1759-1761)GAA>GGA	p.E587G	HOOK1_uc001czo.2_Missense_Mutation_p.E587G|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Missense_Mutation_p.E545G	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	587	Potential.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)					AAGATCAATGAACTTGAAGCT	0.279													G	60331559	A	G	60331559	3	3	19	1	0	0	0	0	1	0	0	0	7282	246	9	3	1834	3	HOOK1	1	60331559	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	22358	60331559	188919062	113	14412											
INADL	10207	broad.mit.edu	37	chr1	62228824	62228824	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccagatactcacacttcaGcagtccatcaagcaactgaa	5	13	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:62228824G>A	uc001dab.2	+	3	276	c.162G>A	c.(160-162)CAG>CAA	p.Q54Q	INADL_uc009waf.1_Silent_p.Q54Q|INADL_uc001daa.2_Silent_p.Q54Q	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	54	L27.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						TCACACTTCAGCAGTCCATCA	0.363													A	62228824	G	A	62228824	2	1	19	1	0	0	0	0	0	0	0	1	7731	962	34	2		2	INADL	1	62228824	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1897265	62228824	187021797	114	14413											
KANK4	163782	broad.mit.edu	37	chr1	62728927	62728927	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccacggcggggctagaCgacttccggctggagacgcg	16	14	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:62728927C>T	uc001dah.3	-	7	2753	c.2376G>A	c.(2374-2376)TCG>TCA	p.S792S	KANK4_uc001dai.3_Silent_p.S164S|KANK4_uc001daf.3_5'UTR|KANK4_uc001dag.3_Silent_p.S148S	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	792								p.S792L(1)		ovary(3)|skin(2)|lung(1)	6						CGGGGCTAGACGACTTCCGGC	0.572													T	62728927	C	T	62728927	2	4	19	1	0	0	0	0	0	0	0	1	7979	523	19	1		1	KANK4	1	62728927	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	500103	62728927	186521694	115	14414											
DOCK7	85440	broad.mit.edu	37	chr1	62979473	62979473	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatctgtaaaccacttctGtagaactgtttcatctgcat	7	9	4	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:62979473G>A	uc001daq.2	-	32	4067	c.4033C>T	c.(4033-4035)CAG>TAG	p.Q1345*	DOCK7_uc001dan.2_Nonsense_Mutation_p.Q1206*|DOCK7_uc001dao.2_Nonsense_Mutation_p.Q1206*|DOCK7_uc001dap.2_Nonsense_Mutation_p.Q1314*|DOCK7_uc001dam.2_Nonsense_Mutation_p.Q525*|DOCK7_uc010oov.1_Intron	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1345					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						AACCACTTCTGTAGAACTGTT	0.413													A	62979473	G	A	62979473	4	1	19	1	0	0	0	0	0	1	0	0	4692	1386	48	4	2465	4	DOCK7	1	62979473	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	250546	62979473	186271148	116	14415											
LEPR	3953	broad.mit.edu	37	chr1	66081718	66081718	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaatgactcattgtgcAgtgttcagagatatgtgata	10	4	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:66081718A>T	uc001dci.2	+	15	2225	c.2023A>T	c.(2023-2025)AGT>TGT	p.S675C	LEPR_uc001dcg.2_Missense_Mutation_p.S675C|LEPR_uc001dch.2_Missense_Mutation_p.S675C|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.S675C|LEPR_uc001dck.2_Missense_Mutation_p.S675C	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	675	Extracellular (Potential).|Fibronectin type-III 3.		S -> T.		energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTCATTGTGCAGTGTTCAGAG	0.388													T	66081718	A	T	66081718	3	4	19	1	0	0	0	0	1	0	0	0	8728	188	7	5	2073	5	LEPR	1	66081718	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3102245	66081718	183168903	117	14416											
MIER1	57708	broad.mit.edu	37	chr1	67437384	67437384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgatacagaagaagcatTgagaagattaagatttaatg	9	2	0	6			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:67437384T>C	uc001dde.2	+	10	1105	c.971T>C	c.(970-972)TTG>TCG	p.L324S	MIER1_uc010opf.1_Missense_Mutation_p.L288S|MIER1_uc009way.2_Missense_Mutation_p.L288S|MIER1_uc001ddc.2_Missense_Mutation_p.L324S|MIER1_uc001ddh.2_Missense_Mutation_p.L208S|MIER1_uc001ddf.2_Missense_Mutation_p.L288S|MIER1_uc001ddg.2_Missense_Mutation_p.L244S|MIER1_uc010opg.1_Missense_Mutation_p.L288S|MIER1_uc001ddj.1_Missense_Mutation_p.L271S|MIER1_uc001ddi.2_Missense_Mutation_p.L271S	NM_001077700	NP_001071168	Q8N108	MIER1_HUMAN	mesoderm induction early response 1 isoform b	295	ELM2.|Interaction with HDAC1.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)	1						GAAGAAGCATTGAGAAGATTA	0.274													C	67437384	T	C	67437384	3	2	19	1	0	0	0	0	1	0	0	0	9580	1821	63	3	1086	3	MIER1	1	67437384	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1355666	67437384	181813237	118	14417											
IL23R	149233	broad.mit.edu	37	chr1	67635241	67635241	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaaactttctggaaccacAtgcttctatgtactgcactg	6	10	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:67635241A>G	uc001ddo.2	+	3	372	c.287A>G	c.(286-288)CAT>CGT	p.H96R	IL23R_uc009waz.2_5'UTR|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_5'UTR|IL23R_uc010opk.1_Missense_Mutation_p.H53R|IL23R_uc010opl.1_5'UTR|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_5'UTR|IL23R_uc010opn.1_5'UTR|IL23R_uc001ddr.2_RNA	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	96	Extracellular (Potential).				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity				0						CTGGAACCACATGCTTCTATG	0.348													G	67635241	A	G	67635241	3	3	19	1	0	0	0	0	1	0	0	0	7676	217	8	3	293	3	IL23R	1	67635241	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	197857	67635241	181615380	119	14418											
IL12RB2	3595	broad.mit.edu	37	chr1	67861635	67861635	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgaggcacctctcgctgacTctctggaagaactggagcct	11	12	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:67861635T>A	uc001ddu.2	+	16	3092	c.2452T>A	c.(2452-2454)TCT>ACT	p.S818T	IL12RB2_uc010oqi.1_3'UTR|IL12RB2_uc010oqj.1_3'UTR|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.S732T|IL12RB2_uc010oqm.1_3'UTR|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	818	Cytoplasmic (Potential).				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						TCTCGCTGACTCTCTGGAAGA	0.547													A	67861635	T	A	67861635	3	1	19	1	0	0	0	0	1	0	0	0	7627	1551	54	5	2510	5	IL12RB2	1	67861635	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	226394	67861635	181388986	120	14419											
WLS	79971	broad.mit.edu	37	chr1	68564361	68564361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaaggaatatttcgaaGcgctgaacaattcttgataa	9	5	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:68564361G>A	uc001dee.2	-	12	1857	c.1586C>T	c.(1585-1587)GCT>GTT	p.A529V	uc001deb.1_RNA|uc001dec.1_RNA	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	G protein-coupled receptor 177 isoform 2	Error:Variant_position_missing_in_Q5T9L3_after_alignment					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity				0						atatttcgaagcgctgaacaa	0													A	68564361	G	A	68564361	3	1	19	1	0	0	0	0	1	0	0	0	17373	971	34	2	49	2	WLS	1	68564361	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	702726	68564361	180686260	121	14420											
FPGT	8790	broad.mit.edu	37	chr1	74671452	74671452	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttatctacaaagatgtagAagatatgataacttacaggg	9	5	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:74671452A>G	uc001dgb.1	+	4	1758	c.1721A>G	c.(1720-1722)GAA>GGA	p.E574G	TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Missense_Mutation_p.E199G|FPGT_uc010oqu.1_Missense_Mutation_p.E320G|FPGT_uc010oqv.1_Intron	NM_003838	NP_003829	O14772	FPGT_HUMAN	fucose-1-phosphate guanyltransferase	574					fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding			skin(1)	1						AAAGATGTAGAAGATATGATA	0.313													G	74671452	A	G	74671452	3	3	19	1	0	0	0	0	1	0	0	0	6037	246	9	3	1735	3	FPGT	1	74671452	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	6107091	74671452	174579169	122	14421											
C1orf173	127254	broad.mit.edu	37	chr1	75038657	75038657	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacttcatgaagatgctccaAgttcagggctgctgcttcat	9	10	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:75038657A>C	uc001dgg.2	-	14	2956	c.2737T>G	c.(2737-2739)TTG>GTG	p.L913V		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	913	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						AGATGCTCCAAGTTCAGGGCT	0.542													C	75038657	A	C	75038657	3	2	19	1	0	0	0	0	1	0	0	0	2014	69	3	5	1859	5	C1orf173	1	75038657	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	367205	75038657	174211964	123	14422											
ASB17	127247	broad.mit.edu	37	chr1	76387916	76387916	+	Frame_Shift_Del	DEL	T	T	-													ttaagacaatgttgatagggTttttttctctttctaagatt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:76387916delT	uc001dhe.1	-	2	670	c.530delA	c.(529-531)AACfs	p.N177fs	ASB17_uc001dhf.1_RNA	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box-containing 17	177					intracellular signal transduction					ovary(1)	1						GTTGATAGGGTTTTTTTCTCT	0.368													-	76387916	T	-	76387916	7	5	19	1	0	1	0	1	0	0	0	0	1021	1725	60	0	365	0	ASB17	1	76387916	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	1349259	76387916	172862705	124	14423											
ZZZ3	26009	broad.mit.edu	37	chr1	78050227	78050227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctggagtttttccacaaatCcaatgggatttttcagtgct	8	8	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:78050227C>T	uc001dhq.2	-	6	2095	c.1619G>A	c.(1618-1620)GGA>GAA	p.G540E	ZZZ3_uc001dhr.2_Missense_Mutation_p.G46E|ZZZ3_uc009wbz.1_3'UTR|ZZZ3_uc001dhp.2_Missense_Mutation_p.G540E	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5						TTCCACAAATCCAATGGGATT	0.383													T	78050227	C	T	78050227	3	4	19	1	0	0	0	0	1	0	0	0	18253	855	30	4	1132	4	ZZZ3	1	78050227	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1662311	78050227	171200394	125	14424											
ZZZ3	26009	broad.mit.edu	37	chr1	78097960	78097960	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatcatttgagctgaaacAcagtctagaacaggagatgg	11	7	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:78097960A>G	uc001dhq.2	-	5	1556	c.1080T>C	c.(1078-1080)TGT>TGC	p.C360C	ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Silent_p.C360C|ZZZ3_uc001dhp.2_Silent_p.C360C	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5						GAGCTGAAACACAGTCTAGAA	0.463													G	78097960	A	G	78097960	2	3	19	1	0	0	0	0	0	0	0	1	18253	157	6	3		3	ZZZ3	1	78097960	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	47733	78097960	171152661	126	14425											
WDR63	126820	broad.mit.edu	37	chr1	85563328	85563328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtagtagaagtaaaagagCcacactgaaggtaagctttt	11	5	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:85563328C>T	uc001dkt.2	+	12	1531	c.1340C>T	c.(1339-1341)GCC>GTC	p.A447V	WDR63_uc009wcl.2_Missense_Mutation_p.A408V	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	447										upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AGTAAAAGAGCCACACTGAAG	0.343													T	85563328	C	T	85563328	3	4	19	1	0	0	0	0	1	0	0	0	17311	739	26	2	1382	2	WDR63	1	85563328	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	7465368	85563328	163687293	127	14426											
COL24A1	255631	broad.mit.edu	37	chr1	86591704	86591704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccagttaatattgtaaaCggctgccccaagttgactgg	9	10	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:86591704C>T	uc001dlj.2	-	3	357	c.315G>A	c.(313-315)CCG>CCA	p.P105P	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Silent_p.P105P	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	105	TSP N-terminal.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATATTGTAAACGGCTGCCCCA	0.373													T	86591704	C	T	86591704	2	4	19	1	0	0	0	0	0	0	0	1	3683	523	19	1		1	COL24A1	1	86591704	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1028376	86591704	162658917	128	14427											
CLCA1	1179	broad.mit.edu	37	chr1	86947904	86947904	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagatgttcagcaggtattActggtacaaatgtagtaaag	10	5	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:86947904A>G	uc001dlt.2	+	5	703	c.574A>G	c.(574-576)ACT>GCT	p.T192A	CLCA1_uc001dls.1_Missense_Mutation_p.T131A	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	192					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AGCAGGTATTACTGGTACAAA	0.393													G	86947904	A	G	86947904	3	3	19	1	0	0	0	0	1	0	0	0	3457	391	14	3	592	3	CLCA1	1	86947904	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	356200	86947904	162302717	129	14428											
GBP1	2633	broad.mit.edu	37	chr1	89519089	89519089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttcgtctggagatcctgTatctcatttttcattattct	5	8	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:89519089T>C	uc001dmx.2	-	11	1948	c.1728A>G	c.(1726-1728)ATA>ATG	p.I576M		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	576					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GGAGATCCTGTATCTCATTTT	0.403													C	89519089	T	C	89519089	3	2	19	1	0	0	0	0	1	0	0	0	6273	1628	57	3	54	3	GBP1	1	89519089	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2571185	89519089	159731532	130	14429											
GBP2	2634	broad.mit.edu	37	chr1	89582734	89582734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattggaatggctgaggatgTaggaacaaaattctgcaact	11	6	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:89582734T>C	uc001dmz.1	-	6	1080	c.809A>G	c.(808-810)TAC>TGC	p.Y270C	GBP2_uc001dmy.1_RNA	NM_004120	NP_004111	P32456	GBP2_HUMAN	guanylate binding protein 2,	270					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)	1		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GCTGAGGATGTAGGAACAAAA	0.483													C	89582734	T	C	89582734	3	2	19	1	0	0	0	0	1	0	0	0	6274	1638	57	3	990	3	GBP2	1	89582734	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	63645	89582734	159667887	131	14430											
LRRC8B	23507	broad.mit.edu	37	chr1	90050223	90050223	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataataatattgagaatctgCccttgcagcttttcctatgc	6	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:90050223C>A	uc001dni.2	+	7	2521	c.2014C>A	c.(2014-2016)CCC>ACC	p.P672T	LRRC8B_uc001dnh.2_Missense_Mutation_p.P672T|LRRC8B_uc001dnj.2_Missense_Mutation_p.P672T	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	672	LRR 9.					integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TGAGAATCTGCCCTTGCAGCT	0.378													A	90050223	C	A	90050223	3	1	19	1	0	0	0	0	1	0	0	0	9022	739	26	5	2016	5	LRRC8B	1	90050223	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	467489	90050223	159200398	132	14431											
ZNF326	284695	broad.mit.edu	37	chr1	90478719	90478719	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaatgaagaggaagaaaaGcggcgaattgaggctcggcg	15	5	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:90478719G>A	uc001dnq.2	+	7	988	c.849G>A	c.(847-849)AAG>AAA	p.K283K	ZNF326_uc009wda.1_Silent_p.K194K|ZNF326_uc001dnr.2_Silent_p.K77K	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326 isoform 1	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			ovary(1)	1		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		AGGAAGAAAAGCGGCGAATTG	0.368													A	90478719	G	A	90478719	2	1	19	1	0	0	0	0	0	0	0	1	17843	962	34	2		2	ZNF326	1	90478719	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	428496	90478719	158771902	133	14432											
ZNF644	84146	broad.mit.edu	37	chr1	91405022	91405022	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatctacaggttcttcaaggAtgtcattttttcttttatca	5	7	6	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:91405022A>T	uc001dnw.2	-	3	2031	c.1889T>A	c.(1888-1890)ATC>AAC	p.I630N	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.I630N	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTCTTCAAGGATGTCATTTTT	0.353													T	91405022	A	T	91405022	3	4	19	1	0	0	0	0	1	0	0	0	18057	333	12	5	2110	5	ZNF644	1	91405022	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	926303	91405022	157845599	134	14433											
ZNF644	84146	broad.mit.edu	37	chr1	91405907	91405907	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcatatttctgtgagtctActgcttgtagctcttcattt	7	8	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:91405907A>G	uc001dnw.2	-	3	1146	c.1004T>C	c.(1003-1005)GTA>GCA	p.V335A	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.V335A	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTGTGAGTCTACTGCTTGTAG	0.353													G	91405907	A	G	91405907	3	3	19	1	0	0	0	0	1	0	0	0	18057	391	14	3	2995	3	ZNF644	1	91405907	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	885	91405907	157844714	135	14434											
ZNF644	84146	broad.mit.edu	37	chr1	91406587	91406587	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagctcctttaggcaagatAaagttttcactagaaacagt	8	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:91406587A>G	uc001dnw.2	-	3	466	c.324T>C	c.(322-324)TTT>TTC	p.F108F	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Silent_p.F108F	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TAGGCAAGATAAAGTTTTCAC	0.408													G	91406587	A	G	91406587	2	3	19	1	0	0	0	0	0	0	0	1	18057	359	13	3		3	ZNF644	1	91406587	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	680	91406587	157844034	136	14435											
EVI5	7813	broad.mit.edu	37	chr1	92979436	92979436	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttcatcggaggaatggaatGattcatcatctcctattaaa	7	8	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:92979436G>A	uc001dox.2	-	18	2220	c.2210C>T	c.(2209-2211)TCA>TTA	p.S737L	EVI5_uc010otf.1_Missense_Mutation_p.S748L	NM_005665	NP_005656	O60447	EVI5_HUMAN	ecotropic viral integration site 5	737	Targeting to the centrosomes.|Interaction with AURKB and INCENP.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			ovary(1)|breast(1)	2		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GGAATGGAATGATTCATCATC	0.428													A	92979436	G	A	92979436	3	1	19	1	0	0	0	0	1	0	0	0	5289	1294	45	4	226	4	EVI5	1	92979436	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1572849	92979436	156271185	137	14436											
CCDC18	343099	broad.mit.edu	37	chr1	93649684	93649684	+	Frame_Shift_Del	DEL	A	A	-													tggtagcagcactgattttcAaaaaaagccaagagataagg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:93649683_93649683CA>C	uc021opx.1	+	2	444	c.283_283CA>C	c.(283-285)caafs	p.Q95fs		NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.	95										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CACTGATTTTCAAAAAAAGCC	0.308													-	93649684	A	-	93649684	7	5	19	1	0	1	0	1	0	0	0	0	2794	130	5	0	648	0	CCDC18	1	93649684	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	670248	93649684	155600937	138	14437											
DNTTIP2	30836	broad.mit.edu	37	chr1	94335492	94335492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgatctctgagtacttccttCggttgtatctgaaaaagaaa	8	7	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:94335492C>T	uc001dqf.2	-	7	2224	c.2186G>A	c.(2185-2187)CGA>CAA	p.R729Q	DNTTIP2_uc010otm.1_RNA	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal,	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		GTACTTCCTTCGGTTGTATCT	0.294													T	94335492	C	T	94335492	3	4	19	1	0	0	0	0	1	0	0	0	4682	884	31	1	88	1	DNTTIP2	1	94335492	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	685808	94335492	154915129	139	14438											
ABCA4	24	broad.mit.edu	37	chr1	94528845	94528845	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagctgagtttcatcattgTagctttcaaacttatccagg	8	8	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:94528845T>C	uc001dqh.2	-	12	1687	c.1583A>G	c.(1582-1584)TAC>TGC	p.Y528C	ABCA4_uc010otn.1_Missense_Mutation_p.Y528C	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	528	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCATCATTGTAGCTTTCAAA	0.493													C	94528845	T	C	94528845	3	2	19	1	0	0	0	0	1	0	0	0	34	1638	57	3	5394	3	ABCA4	1	94528845	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	193353	94528845	154721776	140	14439											
RWDD3	25950	broad.mit.edu	37	chr1	95710198	95710198	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaggctgacaggaagactgAtgttcatgggtaaaataata	11	4	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:95710198A>G	uc009wdu.2	+	2	593	c.517A>G	c.(517-519)ATG>GTG	p.M173V	RWDD3_uc001drd.3_3'UTR|RWDD3_uc010oty.1_Missense_Mutation_p.M158V|RWDD3_uc009wdt.2_Missense_Mutation_p.M173V|RWDD3_uc001drf.3_Missense_Mutation_p.M173V|RWDD3_uc001drh.3_Missense_Mutation_p.M158V|RWDD3_uc009wdv.2_RNA|RWDD3_uc001drg.3_RNA|RWDD3_uc001dri.3_Missense_Mutation_p.M173V	NM_015485	NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3 isoform a	173						cytoplasm|nucleus	protein binding			ovary(1)	1		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		AGGAAGACTGATGTTCATGGG	0.368													G	95710198	A	G	95710198	3	3	19	1	0	0	0	0	1	0	0	0	13757	333	12	3	523	3	RWDD3	1	95710198	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1181353	95710198	153540423	141	14440											
DPYD	1806	broad.mit.edu	37	chr1	98206022	98206022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgacacggggcatctgCacatttcaggcatctaggaa	10	11	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:98206022C>T	uc001drv.2	-	4	384	c.247G>A	c.(247-249)GCA>ACA	p.A83T	DPYD_uc010oub.1_RNA|DPYD_uc001drw.2_Missense_Mutation_p.A83T	NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	83	4Fe-4S ferredoxin-type 1.				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GGGGCATCTGCACATTTCAGG	0.338													T	98206022	C	T	98206022	3	4	19	1	0	0	0	0	1	0	0	0	4745	710	25	2	2953	2	DPYD	1	98206022	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2495824	98206022	151044599	142	14441											
LPPR5	163404	broad.mit.edu	37	chr1	99380342	99380342	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatttaaattgtgagtcacCtgtacagatgttaccttttc	7	7	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:99380342C>A	uc001dsb.2	-	5	1155	c.933G>T	c.(931-933)CAG>CAT	p.Q311H	LPPR5_uc001dsc.2_Intron	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	phosphatidic acid phosphatase type 2d isoform 1	311						integral to membrane	hydrolase activity				0						TGTGAGTCACCTGTACAGATG	0.348													A	99380342	C	A	99380342	3	1	19	1	0	0	0	0	1	0	0	0	8928	695	24	5	40	5	LPPR5	1	99380342	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1174320	99380342	149870279	143	14442											
AGL	178	broad.mit.edu	37	chr1	100366349	100366349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggttccaaatggtctagacAttctcaagtgcccagtttcc	8	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:100366349A>G	uc001dsi.1	+	26	3920	c.3520A>G	c.(3520-3522)ATT>GTT	p.I1174V	AGL_uc001dsj.1_Missense_Mutation_p.I1174V|AGL_uc001dsk.1_Missense_Mutation_p.I1174V|AGL_uc001dsl.1_Missense_Mutation_p.I1174V|AGL_uc001dsm.1_Missense_Mutation_p.I1158V|AGL_uc001dsn.1_Missense_Mutation_p.I1157V	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	1174	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGGTCTAGACATTCTCAAGTG	0.418													G	100366349	A	G	100366349	3	3	19	1	0	0	0	0	1	0	0	0	384	217	8	3	3687	3	AGL	1	100366349	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	986007	100366349	148884272	144	14443											
HIAT1	64645	broad.mit.edu	37	chr1	100515493	100515493	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataggttctcctagtgtctAtcatgcagttatcgtcatct	7	9	5	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:100515493A>G	uc001dst.2	+	2	113	c.113A>G	c.(112-114)TAT>TGT	p.Y38C		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	38	Extracellular (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity				0		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CCTAGTGTCTATCATGCAGTT	0.303													G	100515493	A	G	100515493	3	3	19	1	0	0	0	0	1	0	0	0	7097	449	16	3	119	3	HIAT1	1	100515493	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	149144	100515493	148735128	145	14444											
RTCD1	8634	broad.mit.edu	37	chr1	100736176	100736176	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgcttctccatcagaActtcatttgaaaggtggaac	8	9	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:100736176A>G	uc001dtc.2	+	4	572	c.354A>G	c.(352-354)GAA>GAG	p.E118E	RTCD1_uc010ouh.1_Silent_p.E118E|RTCD1_uc001dtd.2_Silent_p.E131E	NM_003729	NP_003720	O00442	RTC1_HUMAN	RNA terminal phosphate cyclase domain 1 isoform	118					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)		CTCCATCAGAACTTCATTTGA	0.423													G	100736176	A	G	100736176	2	3	19	1	0	0	0	0	0	0	0	1	13718	40	2	3		3	RTCD1	1	100736176	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	220683	100736176	148514445	146	14445											
CDC14A	8556	broad.mit.edu	37	chr1	100928305	100928305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagatttatgaggcaaagCgcttcacagacgctggcttc	10	9	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:100928305C>T	uc001dtg.3	+	9	1194	c.706C>T	c.(706-708)CGC>TGC	p.R236C	CDC14A_uc009web.2_RNA|CDC14A_uc010oui.1_Missense_Mutation_p.R178C|CDC14A_uc001dte.3_Missense_Mutation_p.R236C|CDC14A_uc001dtf.2_Missense_Mutation_p.R236C|CDC14A_uc009wed.1_5'UTR|CDC14A_uc009wee.2_Missense_Mutation_p.R236C	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN	CDC14 homolog A isoform 1	236	B.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)	1		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TGAGGCAAAGCGCTTCACAGA	0.458													T	100928305	C	T	100928305	3	4	19	1	0	0	0	0	1	0	0	0	3056	768	27	1	740	1	CDC14A	1	100928305	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	192129	100928305	148322316	147	14446											
SLC30A7	148867	broad.mit.edu	37	chr1	101431476	101431476	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acataatatttttactcaggTatgtcttttttactaacttc	3	7	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:101431476T>C	uc001dtn.2	+	10	1270	c.1083_splice	c.e10+2	p.Q361_splice	SLC30A7_uc001dto.2_Splice_Site_p.Q361_splice	NM_001144884	NP_001138356	Q8NEW0	ZNT7_HUMAN	zinc transporter like 2						zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding				0		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TTTACTCAGGTATGTCTTTTT	0.254													C	101431476	T	C	101431476	5	2	19	1	0	0	0	0	0	0	1	0	14560	1652	57	3	1123	3	SLC30A7	1	101431476	Splice_Site	SNP	T	TCGA-BR-4361-01A-01D-1158-08	503171	101431476	147819145	148	14447											
DPH5	51611	broad.mit.edu	37	chr1	101458257	101458257	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgggctgcttggttTacactcatataccgtggagg	13	9	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:101458257T>C	uc001dts.2	-	7	717	c.570A>G	c.(568-570)GTA>GTG	p.V190V	DPH5_uc001dtr.2_Silent_p.V190V|DPH5_uc001dtq.2_Intron|DPH5_uc001dtt.2_Silent_p.V190V|DPH5_uc001dtu.2_RNA|DPH5_uc001dtv.2_RNA|DPH5_uc001dtw.2_RNA|DPH5_uc001dtx.2_Intron|DPH5_uc001dty.2_Silent_p.V69V|DPH5_uc001dtz.2_RNA	NM_015958	NP_057042	Q9H2P9	DPH5_HUMAN	diphthine synthase isoform a	190					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity				0		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		CTGCTTGGTTTACACTCATAT	0.408													C	101458257	T	C	101458257	2	2	19	1	0	0	0	0	0	0	0	1	4723	1741	61	3		3	DPH5	1	101458257	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	26781	101458257	147792364	149	14448											
COL11A1	1301	broad.mit.edu	37	chr1	103364506	103364506	+	Frame_Shift_Del	DEL	T	T	-													tttttttttaccttagcaccTttttcaccttgtcttccctc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:103364505_103364505CT>C	uc001dum.3	-	54	4486	c.4168_4168AG>G	c.(4168-4170)ggtfs	p.G1390fs	COL11A1_uc001duk.3_Frame_Shift_Del_p.G574fs|COL11A1_uc001dul.3_Frame_Shift_Del_p.G1378fs|COL11A1_uc001dun.3_Frame_Shift_Del_p.G1339fs|COL11A1_uc009weh.3_Frame_Shift_Del_p.G1262fs	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1378	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		aCCTTAGCACCTTTTTCACCT	0.264													-	103364506	T	-	103364506	7	5	19	1	0	1	0	1	0	0	0	0	3667	1606	56	0	1341	0	COL11A1	1	103364506	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	1906249	103364506	145886115	150	14449											
STXBP3	6814	broad.mit.edu	37	chr1	109342883	109342885	+	In_Frame_Del	DEL	TTG	TTG	-													gattcaaaagaatggccataTtgttcccagtgtccagcagt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:109342883_109342885delTTG	uc001dvy.2	+	17	1566_1568	c.1491_1493delTTG	c.(1489-1494)TATTGT>TAT	p.C498del	STXBP3_uc001dvz.2_RNA	NM_007269	NP_009200	O00186	STXB3_HUMAN	syntaxin binding protein 3	498					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			ovary(3)|central_nervous_system(1)	4		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		AATGGCCATATTGTTCCCAGTGT	0.325													-	109342885	TTG	-	109342883	7	5	19	1	0	1	0	1	0	0	0	0	15353	1500	52	0	1557	0	STXBP3	1	109342883	In_Frame_Del	DEL	TTG	TCGA-BR-4361-01A-01D-1158-08	5978377	109342883	139907738	151	14450											
C1orf194	127003	broad.mit.edu	37	chr1	109649218	109649218	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgatccagtgtctgatgttAgccaggaaagtgatgggtgg	15	5	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:109649218A>G	uc009wev.2	-	4	446	c.378T>C	c.(376-378)GCT>GCC	p.A126A	C1orf194_uc001dwp.3_RNA|C1orf194_uc009wew.2_Silent_p.A114A	NM_001122961	NP_001116433	Q5T5A4	CA194_HUMAN	hypothetical protein LOC127003	126										ovary(1)	1						GTCTGATGTTAGCCAGGAAAG	0.483													G	109649218	A	G	109649218	2	3	19	1	0	0	0	0	0	0	0	1	2025	407	15	3		3	C1orf194	1	109649218	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	306335	109649218	139601403	152	14451											
CELSR2	1952	broad.mit.edu	37	chr1	109813589	109813589	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgagggctacgggaacccTgacttctgctggctctccat	11	15	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:109813589T>G	uc001dxa.3	+	25	7585	c.7524T>G	c.(7522-7524)CCT>CCG	p.P2508P		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2508	Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ACGGGAACCCTGACTTCTGCT	0.637													G	109813589	T	G	109813589	2	3	19	1	0	0	0	0	0	0	0	1	3222	1567	55	5		5	CELSR2	1	109813589	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	164371	109813589	139437032	153	14452											
AMPD2	271	broad.mit.edu	37	chr1	110169810	110169810	+	Frame_Shift_Del	DEL	C	C	-													cctgcagatgccccggtgcaCccccctgcgctggagcagca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:110169809_110169809AC>A	uc009wfh.1	+	7	1435	c.893_893AC>A	c.(892-894)cacfs	p.H298fs	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Frame_Shift_Del_p.H217fs|AMPD2_uc001dyc.1_Frame_Shift_Del_p.H298fs|AMPD2_uc010ovr.1_Frame_Shift_Del_p.H223fs|AMPD2_uc010ovs.1_Frame_Shift_Del_p.H180fs|AMPD2_uc001dyd.1_Frame_Shift_Del_p.H179fs|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	298					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCCCGGTGCACCCCCCTGCG	0.652													-	110169810	C	-	110169810	7	5	19	1	0	1	0	1	0	0	0	0	586	506	18	0	961	0	AMPD2	1	110169810	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	356221	110169810	139080811	154	14453											
EPS8L3	79574	broad.mit.edu	37	chr1	110301240	110301240	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcggcctttccatagcaggCcccctccatctgtcctggcc	9	18	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:110301240C>A	uc001dyr.1	-	7	652	c.507G>T	c.(505-507)GGG>GGT	p.G169G	EPS8L3_uc001dys.1_Silent_p.G169G|EPS8L3_uc001dyq.1_Silent_p.G170G|EPS8L3_uc009wfm.1_Silent_p.G136G|EPS8L3_uc009wfn.1_Silent_p.G136G|EPS8L3_uc009wfo.1_Silent_p.G116G	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	169						cytoplasm	protein binding			ovary(2)|skin(1)	3		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CCATAGCAGGCCCCCTCCATC	0.602													A	110301240	C	A	110301240	2	1	19	1	0	0	0	0	0	0	0	1	5197	726	26	5		5	EPS8L3	1	110301240	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	131430	110301240	138949381	155	14454											
AHCYL1	10768	broad.mit.edu	37	chr1	110558120	110558120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtttaagaagatccgagGcattgtggaagagagcgtga	15	5	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:110558120G>A	uc001dyx.2	+	7	1116	c.749G>A	c.(748-750)GGC>GAC	p.G250D	AHCYL1_uc010ovw.1_Missense_Mutation_p.G203D|AHCYL1_uc001dyy.2_Missense_Mutation_p.G203D|AHCYL1_uc010ovx.1_Missense_Mutation_p.G203D	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	250					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		AAGATCCGAGGCATTGTGGAA	0.478													A	110558120	G	A	110558120	3	1	19	1	0	0	0	0	1	0	0	0	410	1203	42	2	775	2	AHCYL1	1	110558120	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	256880	110558120	138692501	156	14455											
SLC16A4	9122	broad.mit.edu	37	chr1	110925584	110925584	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatccccatcacaaacacaTtcacctaaatcaaagcagac	2	15	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:110925584T>C	uc001dzo.1	-	3	274	c.92A>G	c.(91-93)AAT>AGT	p.N31S	SLC16A4_uc009wfs.1_Missense_Mutation_p.N31S|SLC16A4_uc001dzp.1_Missense_Mutation_p.N31S|SLC16A4_uc010ovy.1_Intron|SLC16A4_uc001dzq.1_Intron|SLC16A4_uc010ovz.1_Intron	NM_004696	NP_004687	O15374	MOT5_HUMAN	solute carrier family 16, member 4	31	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			ovary(3)	3		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	CACAAACACATTCACCTAAAT	0.428													C	110925584	T	C	110925584	3	2	19	1	0	0	0	0	1	0	0	0	14410	1493	52	3	1399	3	SLC16A4	1	110925584	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	367464	110925584	138325037	157	14456											
PROK1	84432	broad.mit.edu	37	chr1	110996681	110996681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccgctggggcgggaaggCgaggagtgccaccccggcag	18	14	0	0	rs138146720		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:110996681C>T	uc001dzs.2	+	2	222	c.171C>T	c.(169-171)GGC>GGT	p.G57G		NM_032414	NP_115790	P58294	PROK1_HUMAN	prokineticin 1 precursor	57					angiogenesis|positive regulation of cell division	extracellular region	growth factor activity				0		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCGGGAAGGCGAGGAGTGCC	0.662													T	110996681	C	T	110996681	2	4	19	1	0	0	0	0	0	0	0	1	12550	755	27	1		1	PROK1	1	110996681	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	71097	110996681	138253940	158	14457											
DENND2D	79961	broad.mit.edu	37	chr1	111738536	111738536	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcacccattttgctaacccAcctcagtgcctgagtcgggg	9	15	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:111738536A>G	uc001eak.1	-	6	845	c.645_splice	c.e6+1	p.E215_splice	DENND2D_uc001eal.1_Splice_Site_p.E212_splice	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D											ovary(1)	1		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TTGCTAACCCACCTCAGTGCC	0.547													G	111738536	A	G	111738536	5	3	19	1	0	0	0	0	0	0	1	0	4431	173	6	3	796	3	DENND2D	1	111738536	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	741855	111738536	137512085	159	14458											
DDX20	11218	broad.mit.edu	37	chr1	112299330	112299330	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgttctccaccatagctttgGactctcttgttcttgaaaac	6	11	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:112299330G>C	uc001ebs.2	+	2	721	c.364G>C	c.(364-366)GAC>CAC	p.D122H	C1orf183_uc001ebp.1_5'Flank|uc001ebr.2_5'Flank|DDX20_uc010owf.1_5'UTR	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	122	Helicase ATP-binding.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			lung(1)|kidney(1)	2		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATAGCTTTGGACTCTCTTGT	0.428													C	112299330	G	C	112299330	3	2	19	1	0	0	0	0	1	0	0	0	4348	1174	41	5	370	5	DDX20	1	112299330	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	560794	112299330	136951291	160	14459											
KCND3	3752	broad.mit.edu	37	chr1	112329582	112329582	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttttgtgccctgcgtTtatcagctctctgattctgg	8	11	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:112329582T>C	uc001ebu.1	-	3	1733	c.1253A>G	c.(1252-1254)AAA>AGA	p.K418R	KCND3_uc001ebv.1_Missense_Mutation_p.K418R	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	418	Cytoplasmic (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGCCCTGCGTTTATCAGCTCT	0.562													C	112329582	T	C	112329582	3	2	19	1	0	0	0	0	1	0	0	0	8020	1841	64	3	738	3	KCND3	1	112329582	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	30252	112329582	136921039	161	14460											
CAPZA1	829	broad.mit.edu	37	chr1	113192040	113192040	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaacatttttcctcctcagAcgttcggctactacttaata	5	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:113192040A>G	uc001ecj.1	+	3	496	c.104A>G	c.(103-105)GAC>GGC	p.D35G		NM_006135	NP_006126	P52907	CAZA1_HUMAN	F-actin capping protein alpha-1 subunit	35					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding				0	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTCCTCAGACGTTCGGCTA	0.343													G	113192040	A	G	113192040	3	3	19	1	0	0	0	0	1	0	0	0	2640	289	10	3	114	3	CAPZA1	1	113192040	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	862458	113192040	136058581	162	14461											
SLC16A1	6566	broad.mit.edu	37	chr1	113460498	113460498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccccaagaattagaaagCttcctctccatccaaagata	5	13	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:113460498C>T	uc001ecx.2	-	4	1362	c.530G>A	c.(529-531)AGC>AAC	p.S177N	SLC16A1_uc001ecy.2_Missense_Mutation_p.S177N|SLC16A1_uc001ecz.2_Missense_Mutation_p.S177N	NM_003051	NP_003042	P53985	MOT1_HUMAN	solute carrier family 16, member 1	177	Helical; (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	AATTAGAAAGCTTCCTCTCCA	0.542													T	113460498	C	T	113460498	3	4	19	1	0	0	0	0	1	0	0	0	14402	797	28	2	980	2	SLC16A1	1	113460498	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	268458	113460498	135790123	163	14462											
LRIG2	9860	broad.mit.edu	37	chr1	113653136	113653136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatcagtgtattgttactAatcactttggttctaattat	5	5	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:113653136A>G	uc001edf.1	+	13	1948	c.1750A>G	c.(1750-1752)AAT>GAT	p.N584D	LRIG2_uc009wgn.1_Missense_Mutation_p.N481D	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	584	Ig-like C2-type 1.|Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TATTGTTACTAATCACTTTGG	0.318													G	113653136	A	G	113653136	3	3	19	1	0	0	0	0	1	0	0	0	8945	362	13	3	1800	3	LRIG2	1	113653136	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	192638	113653136	135597485	164	14463											
LRIG2	9860	broad.mit.edu	37	chr1	113657106	113657106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaacacgaggtgaaactgCggtgttacagtgcatagctg	13	7	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:113657106C>T	uc001edf.1	+	15	2336	c.2138C>T	c.(2137-2139)GCG>GTG	p.A713V	LRIG2_uc009wgn.1_Missense_Mutation_p.A610V	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	713	Ig-like C2-type 3.|Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GGTGAAACTGCGGTGTTACAG	0.443													T	113657106	C	T	113657106	3	4	19	1	0	0	0	0	1	0	0	0	8945	768	27	1	2196	1	LRIG2	1	113657106	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3970	113657106	135593515	165	14464											
OLFML3	56944	broad.mit.edu	37	chr1	114524259	114524259	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgaacgggcagcactcccTtattttccccgcagatatgg	9	14	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:114524259T>C	uc001eer.1	+	3	1198	c.1089T>C	c.(1087-1089)CCT>CCC	p.P363P	OLFML3_uc001ees.1_Silent_p.P343P|OLFML3_uc001eet.1_Silent_p.P219P	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3 precursor	363	Olfactomedin-like.				multicellular organismal development	extracellular region					0	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCACTCCCTTATTTTCCCC	0.587													C	114524259	T	C	114524259	2	2	19	1	0	0	0	0	0	0	0	1	10859	1596	56	3		3	OLFML3	1	114524259	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	867153	114524259	134726362	166	14465											
AMPD1	270	broad.mit.edu	37	chr1	115226954	115226954	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagtgcccgatacagacctTtgcaaacaatttcaaaatct	5	10	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:115226954T>C	uc001efe.1	-	5	497	c.413A>G	c.(412-414)AAA>AGA	p.K138R	AMPD1_uc001eff.1_Missense_Mutation_p.K134R	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	138					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	ATACAGACCTTTGCAAACAAT	0.393													C	115226954	T	C	115226954	3	2	19	1	0	0	0	0	1	0	0	0	585	1841	64	3	1878	3	AMPD1	1	115226954	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	702695	115226954	134023667	167	14466											
ATP1A1	476	broad.mit.edu	37	chr1	116936320	116936320	+	Frame_Shift_Del	DEL	G	G	-													cagaacgcctatttggagctGgggggcctcggagaacgagt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:116936319_116936319TG>T	uc001ege.3	+	11	1973	c.1634_1634TG>T	c.(1633-1635)ctgfs	p.L545fs	ATP1A1_uc010owv.1_Frame_Shift_Del_p.L514fs|ATP1A1_uc010oww.2_Frame_Shift_Del_p.L545fs|ATP1A1_uc010owx.2_Frame_Shift_Del_p.L514fs|ATP1A1OS_uc009whb.2_Intron	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	545					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TATTTGGAGCTGGGGGGCCTC	0.532													-	116936320	G	-	116936320	7	5	19	1	0	1	0	1	0	0	0	0	1128	1335	47	0	1697	0	ATP1A1	1	116936320	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	1709366	116936320	132314301	168	14467											
ANKRD35	148741	broad.mit.edu	37	chr1	145560171	145560171	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggctgtggacagcacaggGcatgatgctctgcactatgc	15	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:145560171G>T	uc001eob.1	+	8	765	c.657G>T	c.(655-657)GGG>GGT	p.G219G	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Silent_p.G62G	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	219	ANK 6.									ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACAGCACAGGGCATGATGCTC	0.632													T	145560171	G	T	145560171	2	4	19	1	0	0	0	0	0	0	0	1	664	1190	42	5		5	ANKRD35	1	145560171	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	28623851	145560171	103690450	169	14468											
ANKRD35	148741	broad.mit.edu	37	chr1	145562258	145562258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggagctacagtccctgaGccagcggctgcagcgggagt	17	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:145562258G>A	uc001eob.1	+	10	2054	c.1946G>A	c.(1945-1947)AGC>AAC	p.S649N	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.S492N	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	649	Potential.									ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGTCCCTGAGCCAGCGGCTG	0.597													A	145562258	G	A	145562258	3	1	19	1	0	0	0	0	1	0	0	0	664	971	34	2	1984	2	ANKRD35	1	145562258	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2087	145562258	103688363	170	14469											
HIST2H2AC	8338	broad.mit.edu	37	chr1	149858676	149858676	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggggccggcgcgcccgtctAcatggcggcggtcctcgagt	18	14	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:149858676A>G	uc001etd.2	+	1	152	c.152A>G	c.(151-153)TAC>TGC	p.Y51C	HIST2H2BE_uc001etc.2_5'Flank	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	51					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGCCCGTCTACATGGCGGCG	0.697													G	149858676	A	G	149858676	3	3	19	1	0	0	0	0	1	0	0	0	7178	391	14	3	154	3	HIST2H2AC	1	149858676	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	4296418	149858676	99391945	171	14470											
HIST2H2AB	317772	broad.mit.edu	37	chr1	149859112	149859112	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgactctccgttttctTgggcaacaggacagcctgga	11	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:149859112T>C	uc001ete.2	-	1	355	c.355A>G	c.(355-357)AAG>GAG	p.K119E	HIST2H2BE_uc001etc.2_5'Flank	NM_175065	NP_778235	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	119					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|breast(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TCCGTTTTCTTGGGCAACAGG	0.512													C	149859112	T	C	149859112	3	2	19	1	0	0	0	0	1	0	0	0	7177	1821	63	3	41	3	HIST2H2AB	1	149859112	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	436	149859112	99391509	172	14471											
CTSS	1520	broad.mit.edu	37	chr1	150724313	150724313	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccttgttatcaatgatgtActggaaagccgttgtcatga	10	8	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:150724313A>G	uc001evn.2	-	5	704	c.571T>C	c.(571-573)TAC>CAC	p.Y191H	CTSS_uc010pcj.1_Missense_Mutation_p.Y141H|CTSS_uc001evo.1_Missense_Mutation_p.Y191H	NM_004079	NP_004070	P25774	CATS_HUMAN	cathepsin S preproprotein	191					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity				0	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TCAATGATGTACTGGAAAGCC	0.468													G	150724313	A	G	150724313	3	3	19	1	0	0	0	0	1	0	0	0	4041	391	14	3	440	3	CTSS	1	150724313	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	865201	150724313	98526308	173	14472											
SETDB1	9869	broad.mit.edu	37	chr1	150915397	150915397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtcggggaaccatattgCctatgattaccaccctcctg	8	13	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:150915397C>T	uc001evu.2	+	7	933	c.743C>T	c.(742-744)GCC>GTC	p.A248V	SETDB1_uc009wmf.2_Missense_Mutation_p.A248V|SETDB1_uc001evv.2_Missense_Mutation_p.A248V|SETDB1_uc001evw.3_Missense_Mutation_p.A248V|SETDB1_uc009wmg.1_Missense_Mutation_p.A248V	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AACCATATTGCCTATGATTAC	0.448													T	150915397	C	T	150915397	3	4	19	1	0	0	0	0	1	0	0	0	14138	739	26	2	765	2	SETDB1	1	150915397	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	191084	150915397	98335224	174	14473											
GABPB2	126626	broad.mit.edu	37	chr1	151062940	151062940	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattattccacagcagaagTactccttcgagcaggtgtta	8	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:151062940T>C	uc001ewr.2	+	3	498	c.167T>C	c.(166-168)GTA>GCA	p.V56A	GABPB2_uc010pcp.1_Missense_Mutation_p.V72A|GABPB2_uc001ews.2_Intron|GABPB2_uc001ewt.2_5'Flank	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	GA repeat binding protein, beta 2	56	ANK 2.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding				0				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		ACAGCAGAAGTACTCCTTCGA	0.448													C	151062940	T	C	151062940	3	2	19	1	0	0	0	0	1	0	0	0	6159	1638	57	3	173	3	GABPB2	1	151062940	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	147543	151062940	98187681	175	14474											
SELENBP1	8991	broad.mit.edu	37	chr1	151341565	151341568	+	Frame_Shift_Del	DEL	GTGC	GTGC	-													gactgggcagcaccagcttgGtgcgcgacttggtgctatca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:151341564_151341567GGTGC>G	uc010pcy.2	-	3	529_532	c.399_402GCACC>C	c.(397-402)cgcaccfs	p.R133fs	SELENBP1_uc001exx.3_Frame_Shift_Del_p.R91fs|SELENBP1_uc010pcz.2_Intron|SELENBP1_uc001eya.3_Frame_Shift_Del_p.R27fs	NM_003944	NP_003935	Q13228	SBP1_HUMAN	Homo sapiens selenium binding protein 1 (SELENBP1), mRNA.	91					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCACCAGCTTGGTGCGCGACTTGG	0.613													-	151341568	GTGC	-	151341565	7	5	19	1	0	1	0	1	0	0	0	0	14014	1261	44	0	1179	0	SELENBP1	1	151341565	Frame_Shift_Del	DEL	GTGC	TCGA-BR-4361-01A-01D-1158-08	278625	151341565	97909056	176	14475											
POGZ	23126	broad.mit.edu	37	chr1	151378275	151378275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcatggggagtcaggtggTgccgcagcatgaaacgcaca	17	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:151378275T>C	uc001eyd.1	-	19	3542	c.3236A>G	c.(3235-3237)CAC>CGC	p.H1079R	POGZ_uc001eye.1_Missense_Mutation_p.H1026R|POGZ_uc010pdb.1_Missense_Mutation_p.H1070R|POGZ_uc001eyf.1_Missense_Mutation_p.H1035R|POGZ_uc010pdc.1_Missense_Mutation_p.H1017R|POGZ_uc009wmv.1_Missense_Mutation_p.H984R|POGZ_uc010pdd.1_Missense_Mutation_p.H570R	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1079	HTH CENPB-type.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGTCAGGTGGTGCCGCAGCAT	0.522													C	151378275	T	C	151378275	3	2	19	1	0	0	0	0	1	0	0	0	12186	1696	59	3	1000	3	POGZ	1	151378275	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	36710	151378275	97872346	177	14476											
CGN	57530	broad.mit.edu	37	chr1	151491656	151491656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggacagccgcctcccaCgggacacctttgaggaacgg	13	15	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:151491656C>T	uc009wmw.2	+	2	805	c.661C>T	c.(661-663)CGG>TGG	p.R221W		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	215	Interacts with ZO-2.|Head.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCGCCTCCCACGGGACACCTT	0.622													T	151491656	C	T	151491656	3	4	19	1	0	0	0	0	1	0	0	0	3303	527	19	1	663	1	CGN	1	151491656	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	113381	151491656	97758965	178	14477											
CGN	57530	broad.mit.edu	37	chr1	151502450	151502450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggccgcagtggagacgacGcttcgggagacccaggagga	18	11	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:151502450G>A	uc009wmw.2	+	12	2316	c.2172G>A	c.(2170-2172)ACG>ACA	p.T724T		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	718	Glu-rich.|Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGGAGACGACGCTTCGGGAGA	0.642													A	151502450	G	A	151502450	2	1	19	1	0	0	0	0	0	0	0	1	3303	1074	38	1		1	CGN	1	151502450	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	10794	151502450	97748171	179	14478											
CGN	57530	broad.mit.edu	37	chr1	151502999	151502999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggaggaggccctgaatgCgtcccaggaagaggagggga	19	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:151502999C>T	uc009wmw.2	+	13	2492	c.2348C>T	c.(2347-2349)GCG>GTG	p.A783V		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	777	Glu-rich.|Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCCTGAATGCGTCCCAGGAA	0.622													T	151502999	C	T	151502999	3	4	19	1	0	0	0	0	1	0	0	0	3303	768	27	1	2394	1	CGN	1	151502999	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	549	151502999	97747622	180	14479											
SNX27	81609	broad.mit.edu	37	chr1	151664929	151664929	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtacctcaacatgctaaggActtgtgagggctacaatgaa	10	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:151664929A>G	uc001eyn.1	+	9	1274	c.1258A>G	c.(1258-1260)ACT>GCT	p.T420A	SNX27_uc001eyo.2_Missense_Mutation_p.T327A|SNX27_uc001eyp.2_Missense_Mutation_p.T234A	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	sorting nexin family member 27	420					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			ovary(2)|central_nervous_system(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CATGCTAAGGACTTGTGAGGG	0.393													G	151664929	A	G	151664929	3	3	19	1	0	0	0	0	1	0	0	0	14897	275	10	3	1292	3	SNX27	1	151664929	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	161930	151664929	97585692	181	14480											
FLG	2312	broad.mit.edu	37	chr1	152286065	152286065	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcctgacactgattgtgtgtCtgagttttctgaatgtccct	10	9	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:152286065C>A	uc001ezu.1	-	3	1333	c.1297G>T	c.(1297-1299)GAC>TAC	p.D433Y	uc001ezv.2_RNA	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	433	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGTGTGTCTGAGTTTTCT	0.602									Ichthyosis				A	152286065	C	A	152286065	3	1	19	1	0	0	0	0	1	0	0	0	5922	913	32	5	10892	5	FLG	1	152286065	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	621136	152286065	96964556	182	14481											
JTB	10899	broad.mit.edu	37	chr1	153947257	153947257	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatcagggccacacacacGacagccccttcgaacttcca	7	16	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:153947257G>A	uc001fds.2	-	5	1062	c.339C>T	c.(337-339)GTC>GTT	p.V113V		NM_006694	NP_006685	O76095	JTB_HUMAN	jumping translocation breakpoint precursor	113	Helical; (Potential).				apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCACACACACGACAGCCCCTT	0.502													A	153947257	G	A	153947257	2	1	19	1	0	0	0	0	0	0	0	1	7967	1045	37	1		1	JTB	1	153947257	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1661192	153947257	95303364	183	14482											
JTB	10899	broad.mit.edu	37	chr1	153949675	153949675	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgaaagcacagagcaaCcagcagaggtggcggccctg	15	10	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:153949675C>T	uc001fds.2	-	1	777	c.54G>A	c.(52-54)TGG>TGA	p.W18*		NM_006694	NP_006685	O76095	JTB_HUMAN	jumping translocation breakpoint precursor	18					apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACAGAGCAACCAGCAGAGGT	0.637													T	153949675	C	T	153949675	4	4	19	1	0	0	0	0	0	1	0	0	7967	508	18	4	406	4	JTB	1	153949675	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2418	153949675	95300946	184	14483											
UBAP2L	9898	broad.mit.edu	37	chr1	154227697	154227697	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccctctcaatgaaacggTatctgcagcttccttactga	6	15	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:154227697T>C	uc001fep.3	+	17	2146	c.1979T>C	c.(1978-1980)GTA>GCA	p.V660A	UBAP2L_uc009wot.2_Missense_Mutation_p.V660A|UBAP2L_uc010pek.1_Missense_Mutation_p.V652A|UBAP2L_uc010pel.1_Missense_Mutation_p.V670A|UBAP2L_uc010pen.1_Missense_Mutation_p.V574A|UBAP2L_uc001feq.2_5'UTR|UBAP2L_uc001fer.2_5'Flank	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	660					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AATGAAACGGTATCTGCAGCT	0.468													C	154227697	T	C	154227697	3	2	19	1	0	0	0	0	1	0	0	0	16835	1638	57	3	2041	3	UBAP2L	1	154227697	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	278022	154227697	95022924	185	14484											
ATP8B2	57198	broad.mit.edu	37	chr1	154315770	154315770	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatccgcaagcggatgtcGgtcataggtgaggccaggcc	14	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:154315770G>A	uc001fex.2	+	16	1734	c.1734G>A	c.(1732-1734)TCG>TCA	p.S578S		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	564	Cytoplasmic (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCGGATGTCGGTCATAGGTG	0.577													A	154315770	G	A	154315770	2	1	19	1	0	0	0	0	0	0	0	1	1195	1103	39	1		1	ATP8B2	1	154315770	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	88073	154315770	94934851	186	14485											
ATP8B2	57198	broad.mit.edu	37	chr1	154317917	154317917	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtgcatgggcgctggTcctacctgcgaatgtgcaag	15	10	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:154317917T>C	uc001fex.2	+	23	2689	c.2689T>C	c.(2689-2691)TCC>CCC	p.S897P		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	883	Cytoplasmic (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGGCGCTGGTCCTACCTGCG	0.522											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	154317917	T	C	154317917	3	2	19	1	0	0	0	0	1	0	0	0	1195	1667	58	3	2909	3	ATP8B2	1	154317917	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2147	154317917	94932704	187	14486											
SHC1	6464	broad.mit.edu	37	chr1	154938847	154938847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgggtgcagtgggtcgaGcagcccctggagcggctcct	16	12	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:154938847G>A	uc001ffv.2	-	8	1351	c.1130C>T	c.(1129-1131)GCT>GTT	p.A377V	SHC1_uc001ffu.2_5'Flank|SHC1_uc001ffz.1_Missense_Mutation_p.A148V|SHC1_uc001ffw.2_Missense_Mutation_p.A377V|SHC1_uc001ffx.2_Missense_Mutation_p.A267V|SHC1_uc001ffy.2_Missense_Mutation_p.A267V	NM_183001	NP_892113	P29353	SHC1_HUMAN	SHC-transforming protein 1 isoform 1	377	CH1.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(1)|skin(1)	2	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGTGGGTCGAGCAGCCCCTGG	0.622													A	154938847	G	A	154938847	3	1	19	1	0	0	0	0	1	0	0	0	14270	971	34	2	644	2	SHC1	1	154938847	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	620930	154938847	94311774	188	14487											
HCN3	57657	broad.mit.edu	37	chr1	155252316	155252316	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttggatcgtcttcaacgtAttgtctgatactttcttcct	6	11	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:155252316A>G	uc001fjz.1	+	2	401	c.393A>G	c.(391-393)GTA>GTG	p.V131V	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_5'UTR	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	131	Helical; Name=Segment S2; (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCTTCAACGTATTGTCTGATA	0.567													G	155252316	A	G	155252316	2	3	19	1	0	0	0	0	0	0	0	1	6998	436	16	3		3	HCN3	1	155252316	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	313469	155252316	93998305	189	14488											
HCN3	57657	broad.mit.edu	37	chr1	155257627	155257627	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagccaagtccaggcagcagTggtggcatcatggagcagca	15	10	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:155257627T>C	uc001fjz.1	+	8	1706	c.1698T>C	c.(1696-1698)AGT>AGC	p.S566S	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Silent_p.S261S	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	566	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGGCAGCAGTGGTGGCATCA	0.567													C	155257627	T	C	155257627	2	2	19	1	0	0	0	0	0	0	0	1	6998	1693	59	3		3	HCN3	1	155257627	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	5311	155257627	93992994	190	14489											
ARHGEF2	9181	broad.mit.edu	37	chr1	155920975	155920975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgccagcctccccatccCgagagttggctcggcacagc	10	19	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:155920975C>T	uc001fmt.2	-	20	2466	c.2348G>A	c.(2347-2349)CGG>CAG	p.R783Q	ARHGEF2_uc001fmq.2_Missense_Mutation_p.R21Q|ARHGEF2_uc001fmr.2_Missense_Mutation_p.R755Q|ARHGEF2_uc001fms.2_Missense_Mutation_p.R782Q|ARHGEF2_uc001fmu.2_Missense_Mutation_p.R827Q	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	783					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCCCCATCCCGAGAGTTGGC	0.662													T	155920975	C	T	155920975	3	4	19	1	0	0	0	0	1	0	0	0	903	652	23	1	624	1	ARHGEF2	1	155920975	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	663348	155920975	93329646	191	14490											
ARHGEF2	9181	broad.mit.edu	37	chr1	155932848	155932848	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatggatgtcactgagctcgTccacgcaggggaacaggccc	13	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:155932848T>C	uc001fmt.2	-	8	969	c.851A>G	c.(850-852)GAC>GGC	p.D284G	ARHGEF2_uc001fmr.2_Missense_Mutation_p.D256G|ARHGEF2_uc001fms.2_Missense_Mutation_p.D283G|ARHGEF2_uc001fmu.2_Missense_Mutation_p.D328G|ARHGEF2_uc010pgt.1_Missense_Mutation_p.D257G|ARHGEF2_uc010pgu.1_Missense_Mutation_p.D329G	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	284	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ACTGAGCTCGTCCACGCAGGG	0.607													C	155932848	T	C	155932848	3	2	19	1	0	0	0	0	1	0	0	0	903	1667	58	3	2169	3	ARHGEF2	1	155932848	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	11873	155932848	93317773	192	14491											
TMEM79	84283	broad.mit.edu	37	chr1	156256064	156256064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccagggatcctggtgtaCgggctgagcctgttatgctt	13	11	0	1	rs6663955	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:156256064C>T	uc010phi.1	+	3	967	c.771C>T	c.(769-771)TAC>TAT	p.Y257Y	TMEM79_uc001fod.2_Silent_p.Y98Y|TMEM79_uc009wrw.2_Silent_p.Y257Y	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	257	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1	Hepatocellular(266;0.158)					TCCTGGTGTACGGGCTGAGCC	0.612													T	156256064	C	T	156256064	2	4	19	1	0	0	0	0	0	0	0	1	16200	547	19	1		1	TMEM79	1	156256064	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	323216	156256064	92994557	193	14492											
RHBG	57127	broad.mit.edu	37	chr1	156352561	156352561	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagagtgtgtttccactcAtagccgagggccagcgcagt	14	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:156352561A>G	uc010pho.1	+	8	1173	c.1135A>G	c.(1135-1137)ATA>GTA	p.I379V	RHBG_uc010phm.1_3'UTR|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_Missense_Mutation_p.I310V|RHBG_uc009wrz.2_Missense_Mutation_p.I347V|RHBG_uc001for.2_Missense_Mutation_p.I349V	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Rhesus blood group, B glycoprotein	379	Extracellular (Potential).				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			ovary(2)	2	Hepatocellular(266;0.158)					GTTTCCACTCATAGCCGAGGG	0.632											OREG0013870	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	156352561	A	G	156352561	3	3	19	1	0	0	0	0	1	0	0	0	13324	217	8	3	1165	3	RHBG	1	156352561	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	96497	156352561	92898060	194	14493											
BCAN	63827	broad.mit.edu	37	chr1	156621381	156621381	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggaagccacagagagTgaatcccgtggggccatcta	12	12	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:156621381T>C	uc001fpp.2	+	7	1533	c.1197T>C	c.(1195-1197)AGT>AGC	p.S399S	BCAN_uc001fpo.2_Silent_p.S399S	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	399	Glu-rich.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCACAGAGAGTGAATCCCGTG	0.517													C	156621381	T	C	156621381	2	2	19	1	0	0	0	0	0	0	0	1	1345	1693	59	3		3	BCAN	1	156621381	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	268820	156621381	92629240	195	14494											
ARHGEF11	9826	broad.mit.edu	37	chr1	156917590	156917590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcttgccggtcaatctccCgctgggttagcccagccacc	9	18	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:156917590C>T	uc001fqo.2	-	24	3232	c.2192G>A	c.(2191-2193)CGG>CAG	p.R731Q	ARHGEF11_uc010phu.1_Missense_Mutation_p.R147Q|ARHGEF11_uc001fqn.2_Missense_Mutation_p.R771Q	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	731					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTCAATCTCCCGCTGGGTTAG	0.577													T	156917590	C	T	156917590	3	4	19	1	0	0	0	0	1	0	0	0	896	652	23	1	2444	1	ARHGEF11	1	156917590	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	296209	156917590	92333031	196	14495											
FCRL2	79368	broad.mit.edu	37	chr1	157738348	157738348	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggttttctttcccatacTggttcctgtggcctctctgt	9	12	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:157738348T>C	uc001fre.2	-	5	798	c.739A>G	c.(739-741)AGT>GGT	p.S247G	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.S247G|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	247	Ig-like C2-type 3.|Extracellular (Potential).				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTTCCCATACTGGTTCCTGTG	0.522													C	157738348	T	C	157738348	3	2	19	1	0	0	0	0	1	0	0	0	5795	1580	55	3	819	3	FCRL2	1	157738348	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	820758	157738348	91512273	197	14496											
OR6Y1	391112	broad.mit.edu	37	chr1	158517519	158517519	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaaatggctacatagcggTcaaaggccatgatagcaaga	10	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:158517519T>C	uc010pil.1	-	1	377	c.377A>G	c.(376-378)GAC>GGC	p.D126G		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TACATAGCGGTCAAAGGCCAT	0.468													C	158517519	T	C	158517519	3	2	19	1	0	0	0	0	1	0	0	0	11213	1667	58	3	602	3	OR6Y1	1	158517519	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	779171	158517519	90733102	198	14497											
IGSF9	57549	broad.mit.edu	37	chr1	159902365	159902365	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agactgttgtagggggtgcaGgagtattctcccagggcatc	15	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:159902365G>T	uc001fur.2	-	10	1380	c.1182C>A	c.(1180-1182)TCC>TCA	p.S394S	IGSF9_uc001fuq.2_Silent_p.S378S|IGSF9_uc001fup.2_5'Flank	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	394	Ig-like 4.|Extracellular (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGGGGTGCAGGAGTATTCTC	0.632													T	159902365	G	T	159902365	2	4	19	1	0	0	0	0	0	0	0	1	7605	987	35	5		5	IGSF9	1	159902365	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1384846	159902365	89348256	199	14498											
PIGM	93183	broad.mit.edu	37	chr1	160000350	160000350	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgataagaagaaagaacaAaccagctaaccaaataaaca	5	7	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:160000350A>G	uc001fuv.1	-	1	1434	c.1180T>C	c.(1180-1182)TTG>CTG	p.L394L		NM_145167	NP_660150	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	394	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAAAGAACAAACCAGCTAAC	0.383													G	160000350	A	G	160000350	2	3	19	1	0	0	0	0	0	0	0	1	11892	11	1	3		3	PIGM	1	160000350	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	97985	160000350	89250271	200	14499											
KCNJ10	3766	broad.mit.edu	37	chr1	160012018	160012018	+	Frame_Shift_Del	DEL	G	G	-													cacagggggtgtggttggccGgggggtccagctccagcagg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:160012017_160012017CG>C	uc001fuw.2	-	1	546	c.306_306CG>G	c.(304-306)ccgfs	p.P102fs		NM_002241	NP_002232	P78508	IRK10_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA.	102						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTGGTTGGCCGGGGGGTCCA	0.582													-	160012018	G	-	160012018	7	5	19	1	0	1	0	1	0	0	0	0	8044	1116	39	0	838	0	KCNJ10	1	160012018	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	11668	160012018	89238603	201	14500											
ATP1A2	477	broad.mit.edu	37	chr1	160099084	160099084	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agctggtgatgcctctgagtCagctctgctcaagtgcattg	12	10	4	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:160099084C>T	uc001fvc.2	+	11	1487	c.1355C>T	c.(1354-1356)TCA>TTA	p.S452L	ATP1A2_uc001fvb.2_Missense_Mutation_p.S452L|ATP1A2_uc001fvd.2_Missense_Mutation_p.S188L|ATP1A2_uc009wtg.1_Missense_Mutation_p.S140L	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	452	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCTCTGAGTCAGCTCTGCTC	0.532													T	160099084	C	T	160099084	3	4	19	1	0	0	0	0	1	0	0	0	1129	838	29	4	1397	4	ATP1A2	1	160099084	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	87066	160099084	89151537	202	14501											
ATP1A2	477	broad.mit.edu	37	chr1	160099153	160099153	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagacagaaaccccaaggTggcagagattcctttcaact	10	10	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:160099153T>C	uc001fvc.2	+	11	1556	c.1424T>C	c.(1423-1425)GTG>GCG	p.V475A	ATP1A2_uc001fvb.2_Missense_Mutation_p.V475A|ATP1A2_uc001fvd.2_Missense_Mutation_p.V211A|ATP1A2_uc009wtg.1_Missense_Mutation_p.V163A	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	475	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AACCCCAAGGTGGCAGAGATT	0.522													C	160099153	T	C	160099153	3	2	19	1	0	0	0	0	1	0	0	0	1129	1696	59	3	1466	3	ATP1A2	1	160099153	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	69	160099153	89151468	203	14502											
ATP1A2	477	broad.mit.edu	37	chr1	160100056	160100057	+	Frame_Shift_Ins	INS	-	-	G													aaaatgcctacatggagctgINSgggggacttggggagcgtgt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:160100055_160100056T>TG	uc001fvc.3	+	11	1757_1758	c.1625_1626T>TG	c.(1624-1626)ctgfs	p.L542fs	ATP1A2_uc001fvb.2_Frame_Shift_Ins_p.L542fs|ATP1A2_uc001fvd.3_Frame_Shift_Ins_p.L278fs|ATP1A2_uc009wtg.1_Frame_Shift_Ins_p.L230fs	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	542					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TACATGGAGCTGGGGGGACTTG	0.614													G	160100057	-	G	160100056	7	5	19	1	0	1	1	0	0	0	0	0	1129	1335	47	0	1672	0	ATP1A2	1	160100056	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	903	160100056	89150565	204	14503											
NCSTN	23385	broad.mit.edu	37	chr1	160313199	160313199	+	Frame_Shift_Del	DEL	G	G	-													gaggcaagatggctacggcaGggggtggctctggggctgac							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:160313198_160313198AG>A	uc001fvx.3	+	0	136	c.12_12AG>A	c.(10-12)gcafs	p.A4fs	COPA_uc009wti.3_5'UTR|COPA_uc001fvv.4_5'UTR|COPA_uc009wtj.1_5'UTR|NCSTN_uc009wtk.1_Non-coding_Transcript|NCSTN_uc001fvy.3_5'UTR|NCSTN_uc010pjf.2_Frame_Shift_Del_p.A4fs	NM_015331	NP_056146	Q92542	NICA_HUMAN	Homo sapiens nicastrin (NCSTN), mRNA.	4					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity|protein processing	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGCTACGGCAGGGGGTGGCT	0.657													-	160313199	G	-	160313199	7	5	19	1	0	1	0	1	0	0	0	0	10241	1000	35	0	15	0	NCSTN	1	160313199	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	213143	160313199	88937422	205	14504											
USF1	7391	broad.mit.edu	37	chr1	161011634	161011634	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaagcaccctggatcacCgcctgggaaggggagcaaga	15	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:161011634C>T	uc001fxi.2	-	6	474	c.279G>A	c.(277-279)GCG>GCA	p.A93A	F11R_uc010pjw.1_5'Flank|F11R_uc001fxf.3_5'Flank|TSTD1_uc010pjx.1_5'Flank|TSTD1_uc009wtw.2_5'Flank|TSTD1_uc001fxh.3_5'Flank|USF1_uc001fxj.2_Silent_p.A34A	NM_007122	NP_009053	P22415	USF1_HUMAN	upstream stimulatory factor 1 isoform 1	93					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCTGGATCACCGCCTGGGAAG	0.537													T	161011634	C	T	161011634	2	4	19	1	0	0	0	0	0	0	0	1	17029	639	23	1		1	USF1	1	161011634	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	698435	161011634	88238987	206	14505											
DEDD	9191	broad.mit.edu	37	chr1	161092087	161092087	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagacacctttaagtgcctcTaataaagagccattgatgta	7	8	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:161092087T>C	uc001fxz.2	-	6	980	c.807A>G	c.(805-807)TTA>TTG	p.L269L	NIT1_uc001fxw.2_Intron|DEDD_uc009wty.2_Silent_p.L299L|DEDD_uc001fya.2_Silent_p.L269L|DEDD_uc001fyb.2_Silent_p.L269L|DEDD_uc010pkb.1_Silent_p.L226L|DEDD_uc001fyc.2_Silent_p.L109L	NM_001039712	NP_001034801	O75618	DEDD_HUMAN	death effector domain-containing protein	269					apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding				0	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TAAGTGCCTCTAATAAAGAGC	0.502													C	161092087	T	C	161092087	2	2	19	1	0	0	0	0	0	0	0	1	4384	1519	53	3		3	DEDD	1	161092087	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	80453	161092087	88158534	207	14506											
NR1I3	9970	broad.mit.edu	37	chr1	161203070	161203070	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agttgcacaggtgtttgctgTgcccgccgctgggcctgctt	14	12	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:161203070T>G	uc001fzx.2	-	4	500	c.297A>C	c.(295-297)GCA>GCC	p.A99A	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Silent_p.A99A|NR1I3_uc001fzg.2_Silent_p.A70A|NR1I3_uc001fzh.2_Silent_p.A70A|NR1I3_uc001fzi.2_Silent_p.A70A|NR1I3_uc001fzj.2_Silent_p.A70A|NR1I3_uc001fzk.2_Silent_p.A70A|NR1I3_uc001fzl.2_Silent_p.A70A|NR1I3_uc001fzm.2_Silent_p.A24A|NR1I3_uc001fzn.2_Intron|NR1I3_uc009wug.2_5'UTR|NR1I3_uc001fzp.2_Silent_p.A99A|NR1I3_uc001fzo.2_Intron|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Silent_p.A99A|NR1I3_uc001fzy.2_Silent_p.A99A|NR1I3_uc001fzz.2_Silent_p.A99A|NR1I3_uc001gaa.2_Silent_p.A99A|NR1I3_uc001gab.2_Silent_p.A99A|NR1I3_uc001gac.2_Silent_p.A70A|NR1I3_uc010pkm.1_Silent_p.A70A|NR1I3_uc010pkn.1_Silent_p.A99A	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2	99					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GTGTTTGCTGTGCCCGCCGCT	0.582													G	161203070	T	G	161203070	2	3	19	1	0	0	0	0	0	0	0	1	10621	1683	59	5		5	NR1I3	1	161203070	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	110983	161203070	88047551	208	14507											
FCGR2A	2212	broad.mit.edu	37	chr1	161487831	161487831	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaacaatgactatgaaAcagctgacggcggctacatg	9	10	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:161487831A>G	uc001gan.2	+	7	900	c.847A>G	c.(847-849)ACA>GCA	p.T283A	FCGR2A_uc001gam.2_Missense_Mutation_p.T282A|FCGR2A_uc001gao.2_RNA	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor	283	Cytoplasmic (Potential).					integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGACTATGAAACAGCTGACGG	0.284													G	161487831	A	G	161487831	3	3	19	1	0	0	0	0	1	0	0	0	5781	43	2	3	873	3	FCGR2A	1	161487831	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	284761	161487831	87762790	209	14508											
HSPA6	3310	broad.mit.edu	37	chr1	161495044	161495044	+	Frame_Shift_Del	DEL	T	T	-													gggagagcgcaacgtgctcaTttttgacctgggtgggggca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:161495044delT	uc001gap.2	+	2	1256	c.596delT	c.(595-597)ATTfs	p.I199fs	HSPA6_uc001gaq.2_Frame_Shift_Del_p.I199fs	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	199					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AACGTGCTCATTTTTGACCTG	0.612													-	161495044	T	-	161495044	7	5	19	1	0	1	0	1	0	0	0	0	7415	1493	52	0	598	0	HSPA6	1	161495044	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	7213	161495044	87755577	210	14509											
UHMK1	127933	broad.mit.edu	37	chr1	162467856	162467856	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaggccttcgggcggctGtggcaggtacagagccgtct	17	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:162467856G>A	uc001gcc.1	+	1	202	c.66G>A	c.(64-66)CTG>CTA	p.L22L	UHMK1_uc001gcb.1_Intron|UHMK1_uc009wuu.1_Silent_p.L22L	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	kinase interacting stathmin	22					cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding				0	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCGGGCGGCTGTGGCAGGTAC	0.711													A	162467856	G	A	162467856	2	1	19	1	0	0	0	0	0	0	0	1	16963	1364	48	4		4	UHMK1	1	162467856	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	972812	162467856	86782765	211	14510											
DDR2	4921	broad.mit.edu	37	chr1	162731167	162731167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacggtgcctctccaccaccGaatggccagtgccatcaagt	9	16	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:162731167G>A	uc001gcf.2	+	10	1487	c.1022G>A	c.(1021-1023)CGA>CAA	p.R341Q	DDR2_uc001gcg.2_Missense_Mutation_p.R341Q	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	341	Extracellular (Potential).				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CTCCACCACCGAATGGCCAGT	0.522													A	162731167	G	A	162731167	3	1	19	1	0	0	0	0	1	0	0	0	4337	1058	37	1	1048	1	DDR2	1	162731167	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	263311	162731167	86519454	212	14511											
RXRG	6258	broad.mit.edu	37	chr1	165398092	165398092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccactgcactcagagtcCgtggggcactcactggggta	12	14	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:165398092C>T	uc001gda.2	-	2	461	c.161G>A	c.(160-162)CGG>CAG	p.R54Q		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	54	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	ACTCAGAGTCCGTGGGGCACT	0.612													T	165398092	C	T	165398092	3	4	19	1	0	0	0	0	1	0	0	0	13765	652	23	1	1266	1	RXRG	1	165398092	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2666925	165398092	83852529	213	14512											
POU2F1	5451	broad.mit.edu	37	chr1	167368478	167368478	+	Frame_Shift_Del	DEL	A	A	-													tgctgatcagctcaatatggAaaaagaggtgattcgtgttt					rs12030882		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:167368477_167368477GA>G	uc001gec.3	+	12	1494	c.1255_1255GA>G	c.(1255-1257)gaafs	p.E419fs	POU2F1_uc001gee.3_Frame_Shift_Del_p.E442fs|POU2F1_uc010plh.2_Frame_Shift_Del_p.E379fs|POU2F1_uc001ged.3_Frame_Shift_Del_p.E417fs|POU2F1_uc001gef.3_Frame_Shift_Del_p.E431fs|POU2F1_uc001geg.3_Frame_Shift_Del_p.E317fs|POU2F1_uc009wvg.1_Non-coding_Transcript	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.	419					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GCTCAATATGGAAAAAGAGGT	0.433													-	167368478	A	-	167368478	7	5	19	1	0	1	0	1	0	0	0	0	12271	246	9	0	1298	0	POU2F1	1	167368478	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	1970386	167368478	81882143	214	14513											
ADCY10	55811	broad.mit.edu	37	chr1	167825464	167825464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagatcttgttggagatgtCgttaggctgtactgcaccaa	11	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:167825464C>T	uc001ger.2	-	17	2408	c.2110G>A	c.(2110-2112)GAC>AAC	p.D704N	ADCY10_uc009wvk.2_Missense_Mutation_p.D612N|ADCY10_uc010plj.1_Missense_Mutation_p.D551N|ADCY10_uc009wvl.2_Missense_Mutation_p.D703N	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	704					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						TTGGAGATGTCGTTAGGCTGT	0.478													T	167825464	C	T	167825464	3	4	19	1	0	0	0	0	1	0	0	0	293	884	31	1	2790	1	ADCY10	1	167825464	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	456986	167825464	81425157	215	14514											
F5	2153	broad.mit.edu	37	chr1	169510030	169510030	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagagagtcacctggctgAggtctggggaaagggacatc	17	7	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:169510030A>G	uc001ggg.1	-	13	4443	c.4298T>C	c.(4297-4299)CTC>CCC	p.L1433P		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1433	2-28.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CACCTGGCTGAGGTCTGGGGA	0.522													G	169510030	A	G	169510030	3	3	19	1	0	0	0	0	1	0	0	0	5348	304	11	3	2428	3	F5	1	169510030	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1684566	169510030	79740591	216	14515											
SCYL3	57147	broad.mit.edu	37	chr1	169823472	169823473	+	Frame_Shift_Ins	INS	-	-	T													cactggggagacatcatcctINStttttgggaccatttctgtc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:169823471_169823472C>CT	uc001ggs.2	-	12	2306_2307	c.2108_2109G>AG	c.(2107-2109)aagfs	p.K703fs	SCYL3_uc010plw.1_Frame_Shift_Ins_p.K295fs|SCYL3_uc001ggt.2_Frame_Shift_Ins_p.K649fs	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	703	Interaction with EZR.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGACATCATCCTTTTTTGGGAC	0.406													T	169823473	-	T	169823472	7	5	19	1	0	1	1	0	0	0	0	0	13949	1609	56	0	128	0	SCYL3	1	169823472	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	313442	169823472	79427149	217	14516											
C1orf129	80133	broad.mit.edu	37	chr1	170940930	170940930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggtctcctggcagcagaGctgtctcttttgtgttccca	11	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:170940930G>A	uc001ghg.2	+	8	652	c.522G>A	c.(520-522)GAG>GAA	p.E174E	C1orf129_uc009wvy.2_5'UTR|C1orf129_uc010plz.1_Silent_p.E174E	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	174							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGCAGCAGAGCTGTCTCTTT	0.433													A	170940930	G	A	170940930	2	1	19	1	0	0	0	0	0	0	0	1	1996	962	34	2		2	C1orf129	1	170940930	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1117458	170940930	78309691	218	14517											
BAT2L2	23215	broad.mit.edu	37	chr1	171505354	171505354	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggtggctcatgatgcagTcctacatggatcctcgaatg	11	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:171505354T>C	uc010pmg.1	+	14	2490	c.2224T>C	c.(2224-2226)TCC>CCC	p.S742P		NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	742	Pro-rich.						protein C-terminus binding				0						CATGATGCAGTCCTACATGGA	0.458													C	171505354	T	C	171505354	3	2	19	1	0	0	0	0	1	0	0	0	1321	1667	58	3	2274	3	BAT2L2	1	171505354	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	564424	171505354	77745267	219	14518											
C1orf9	51430	broad.mit.edu	37	chr1	172538216	172538216	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catcagtagcaagtcccaaaGatccagaagatataccaaca	6	11	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:172538216G>T	uc001giq.3	+	7	1106	c.790G>T	c.(790-792)GAT>TAT	p.D264Y	C1orf9_uc010pmm.1_Missense_Mutation_p.D264Y|C1orf9_uc009wwd.2_Missense_Mutation_p.D227Y|C1orf9_uc010pmn.1_Missense_Mutation_p.D227Y|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	264					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		AAGTCCCAAAGATCCAGAAGA	0.318													T	172538216	G	T	172538216	3	4	19	1	0	0	0	0	1	0	0	0	2067	942	33	5	816	5	C1orf9	1	172538216	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1032862	172538216	76712405	220	14519											
SLC9A11	284525	broad.mit.edu	37	chr1	173493985	173493985	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaaggtgagattttttAgagctttagcaatcacattc	9	5	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:173493985A>G	uc001giz.2	-	20	2870	c.2447T>C	c.(2446-2448)CTA>CCA	p.L816P	SLC9A11_uc009wwe.2_Missense_Mutation_p.L374P|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	816					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						GAGATTTTTTAGAGCTTTAGC	0.378													G	173493985	A	G	173493985	3	3	19	1	0	0	0	0	1	0	0	0	14711	420	15	3	963	3	SLC9A11	1	173493985	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	955769	173493985	75756636	221	14520											
KLHL20	27252	broad.mit.edu	37	chr1	173751271	173751271	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggttttgtaggttggcctgGcagtggtcaatggacagctc	15	7	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:173751271G>T	uc001gjc.2	+	11	1827	c.1648G>T	c.(1648-1650)GCA>TCA	p.A550S	KLHL20_uc010pmr.1_Missense_Mutation_p.A361S|KLHL20_uc009wwf.2_Missense_Mutation_p.A532S	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	kelch-like 20	550	Kelch 5.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			ovary(1)	1						GGTTGGCCTGGCAGTGGTCAA	0.393													T	173751271	G	T	173751271	3	4	19	1	0	0	0	0	1	0	0	0	8375	1203	42	5	1686	5	KLHL20	1	173751271	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	257286	173751271	75499350	222	14521											
TNR	7143	broad.mit.edu	37	chr1	175299243	175299243	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagcttcctatgcggagttTgtacaggtttctgctgtcct	11	9	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:175299243T>C	uc001gkp.1	-	19	3841	c.3760A>G	c.(3760-3762)AAA>GAA	p.K1254E	TNR_uc009wwu.1_Missense_Mutation_p.K1254E	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1254	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					ATGCGGAGTTTGTACAGGTTT	0.607													C	175299243	T	C	175299243	3	2	19	1	0	0	0	0	1	0	0	0	16335	1821	63	3	328	3	TNR	1	175299243	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1547972	175299243	73951378	223	14522											
TNR	7143	broad.mit.edu	37	chr1	175365680	175365680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggggaaatggtacgtacGggtggccaccttggcagtga	17	8	0	1	rs78460048	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:175365680G>A	uc001gkp.1	-	3	1321	c.1240C>T	c.(1240-1242)CAT>TAT	p.H414Y	TNR_uc009wwu.1_Missense_Mutation_p.H414Y|TNR_uc010pmz.1_3'UTR	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	414	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					TGGTACGTACGGGTGGCCACC	0.502													A	175365680	G	A	175365680	3	1	19	1	0	0	0	0	1	0	0	0	16335	1130	39	1	2912	1	TNR	1	175365680	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	66437	175365680	73884941	224	14523											
ABL2	27	broad.mit.edu	37	chr1	179077894	179077894	+	Frame_Shift_Del	DEL	T	T	-													ggagcagcactttcctctgaTttttttggaagcatgtcatt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:179077893_179077893AT>A	uc001gmj.4	-	11	2796	c.2509_2509AT>T	c.(2509-2511)tcafs	p.S837fs	ABL2_uc010pnf.2_Frame_Shift_Del_p.S734fs|ABL2_uc010png.2_Frame_Shift_Del_p.S713fs|ABL2_uc010pnh.2_Frame_Shift_Del_p.S816fs|ABL2_uc001gmg.4_Frame_Shift_Del_p.S719fs|ABL2_uc001gmi.4_Frame_Shift_Del_p.S822fs|ABL2_uc010pne.2_Frame_Shift_Del_p.S698fs	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	837	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CTTTCCTCTGATTTTTTTGGA	0.522			T	ETV6	AML								-	179077894	T	-	179077894	7	5	19	1	0	1	0	1	0	0	0	0	93	1490	52	0	1044	0	ABL2	1	179077894	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	3712214	179077894	70172727	225	14524											
ABL2	27	broad.mit.edu	37	chr1	179090927	179090927	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtgtaatgttgtcaccaGcccatcagccactgtggagt	11	10	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:179090927G>A	uc001gmj.3	-	5	1050	c.763C>T	c.(763-765)CTG>TTG	p.L255L	ABL2_uc010pnf.1_Silent_p.L255L|ABL2_uc010png.1_Silent_p.L234L|ABL2_uc010pnh.1_Silent_p.L234L|ABL2_uc009wxe.2_Silent_p.L234L|ABL2_uc001gmg.3_Silent_p.L240L|ABL2_uc001gmi.3_Silent_p.L240L|ABL2_uc001gmh.3_Silent_p.L219L|ABL2_uc010pne.1_Silent_p.L219L|ABL2_uc009wxf.1_Silent_p.L240L|ABL2_uc001gmk.2_Silent_p.L219L	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	255	SH2.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GTTGTCACCAGCCCATCAGCC	0.493			T	ETV6	AML								A	179090927	G	A	179090927	2	1	19	1	0	0	0	0	0	0	0	1	93	962	34	2		2	ABL2	1	179090927	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	13033	179090927	70159694	226	14525											
CEP350	9857	broad.mit.edu	37	chr1	180049727	180049727	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ataggactggaggacaatgtCacctgcctatcaagtcccat	9	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:180049727C>G	uc001gnt.2	+	30	6438	c.6055C>G	c.(6055-6057)CAC>GAC	p.H2019D	CEP350_uc009wxl.2_Missense_Mutation_p.H2018D|CEP350_uc001gnv.2_Missense_Mutation_p.H154D	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	2019						centrosome|nucleus|spindle				ovary(4)	4						AGGACAATGTCACCTGCCTAT	0.418											OREG0004796	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	G	180049727	C	G	180049727	3	3	19	1	0	0	0	0	1	0	0	0	3254	826	29	5	6169	5	CEP350	1	180049727	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	958800	180049727	69200894	227	14526											
KIAA1614	57710	broad.mit.edu	37	chr1	180905051	180905051	+	Frame_Shift_Del	DEL	G	G	-													ggctgaggcggagctcccttGgggccttcaggcccagcaac							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:180905050_180905050TG>T	uc001gok.2	+	4	2072	c.2005_2005TG>T	c.(2005-2007)tggfs	p.W669fs	KIAA1614_uc001gol.1_Frame_Shift_Del_p.W290fs|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	669										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGAGCTCCCTTGGGGCCTTCA	0.637													-	180905051	G	-	180905051	7	5	19	1	0	1	0	1	0	0	0	0	8248	1357	47	0	2024	0	KIAA1614	1	180905051	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	855324	180905051	68345570	228	14527											
CACNA1E	777	broad.mit.edu	37	chr1	181620510	181620510	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagccacctggaattggctgTacttcatccccctcatcatc	7	15	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:181620510T>C	uc001gow.2	+	7	1153	c.988T>C	c.(988-990)TAC>CAC	p.Y330H	CACNA1E_uc009wxr.2_Missense_Mutation_p.Y237H|CACNA1E_uc009wxs.2_Missense_Mutation_p.Y237H	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	330	I.|Helical; Name=S6 of repeat I.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						GAATTGGCTGTACTTCATCCC	0.423													C	181620510	T	C	181620510	3	2	19	1	0	0	0	0	1	0	0	0	2542	1638	57	3	1014	3	CACNA1E	1	181620510	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	715459	181620510	67630111	229	14528											
FAM129A	116496	broad.mit.edu	37	chr1	184868364	184868364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgctgttctacttcagtgCgcacgtgattgcagaaagcc	10	10	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:184868364C>T	uc001gra.2	-	2	328	c.134G>A	c.(133-135)CGC>CAC	p.R45H	FAM129A_uc009wyh.1_Missense_Mutation_p.R45H|FAM129A_uc009wyi.1_5'UTR	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	45					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4						TACTTCAGTGCGCACGTGATT	0.408													T	184868364	C	T	184868364	3	4	19	1	0	0	0	0	1	0	0	0	5436	768	27	1	2704	1	FAM129A	1	184868364	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3247854	184868364	64382257	230	14529											
C1orf25	81627	broad.mit.edu	37	chr1	185113148	185113148	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaatttccttaggtggTttagcagtggaagctaagat	10	5	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:185113148T>C	uc001grf.3	-	6	941	c.669A>G	c.(667-669)AAA>AAG	p.K223K	C1orf25_uc010pon.1_Silent_p.K67K	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA	223						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0						CCTTAGGTGGTTTAGCAGTGG	0.328													C	185113148	T	C	185113148	2	2	19	1	0	0	0	0	0	0	0	1	2034	1722	60	3		3	C1orf25	1	185113148	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	244784	185113148	64137473	231	14530											
HMCN1	83872	broad.mit.edu	37	chr1	185897791	185897791	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acgggcacagacattttttgAcgtatcaggtaattaccact	8	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:185897791A>T	uc001grq.1	+	10	1773	c.1544A>T	c.(1543-1545)GAC>GTC	p.D515V		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	515	Ig-like C2-type 1.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ACATTTTTTGACGTATCAGGT	0.393													T	185897791	A	T	185897791	3	4	19	1	0	0	0	0	1	0	0	0	7220	275	10	5	1582	5	HMCN1	1	185897791	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	784643	185897791	63352830	232	14531											
HMCN1	83872	broad.mit.edu	37	chr1	185984507	185984507	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctgattcagcaacatAtacgtgtcatgtagccaatg	9	9	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:185984507A>G	uc001grq.1	+	31	5076	c.4847A>G	c.(4846-4848)TAT>TGT	p.Y1616C		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1616	Ig-like C2-type 13.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TCAGCAACATATACGTGTCAT	0.398													G	185984507	A	G	185984507	3	3	19	1	0	0	0	0	1	0	0	0	7220	449	16	3	4969	3	HMCN1	1	185984507	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	86716	185984507	63266114	233	14532											
HMCN1	83872	broad.mit.edu	37	chr1	186094843	186094843	+	Frame_Shift_Del	DEL	A	A	-													ccacaccagcaattaactggAaaaaagacaatgttctttta							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:186094843delA	uc001grq.1	+	82	12836	c.12607delA	c.(12607-12609)AAAfs	p.K4203fs	HMCN1_uc001grs.1_5'Flank	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4203	Ig-like C2-type 41.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AATTAACTGGAAAAAAGACAA	0.393													-	186094843	A	-	186094843	7	5	19	1	0	1	0	1	0	0	0	0	7220	247	9	0	12933	0	HMCN1	1	186094843	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	110336	186094843	63155778	234	14533											
PRG4	10216	broad.mit.edu	37	chr1	186277364	186277364	+	Frame_Shift_Del	DEL	C	C	-													caaggagcctgcacccactaCccccaagaagcctgctccaa							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:186277363_186277363AC>A	uc001gru.4	+	6	2563	c.2512_2512AC>A	c.(2512-2514)accfs	p.T838fs	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Frame_Shift_Del_p.T797fs|PRG4_uc009wyl.3_Frame_Shift_Del_p.T745fs|PRG4_uc009wym.3_Frame_Shift_Del_p.T704fs|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	838	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGCACCCACTACCCCCAAGAA	0.567													-	186277364	C	-	186277364	7	5	19	1	0	1	0	1	0	0	0	0	12481	507	18	0	2535	0	PRG4	1	186277364	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	182521	186277364	62973257	235	14534											
PLA2G4A	5321	broad.mit.edu	37	chr1	186919810	186919810	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatattaccacaaagcataTtgtgagtaatgatagctcgg	8	6	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:186919810T>C	uc001gsc.2	+	13	1491	c.1286T>C	c.(1285-1287)ATT>ACT	p.I429T	PLA2G4A_uc010pos.1_Missense_Mutation_p.I369T	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	429	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	ACAAAGCATATTGTGAGTAAT	0.338													C	186919810	T	C	186919810	3	2	19	1	0	0	0	0	1	0	0	0	12001	1493	52	3	1332	3	PLA2G4A	1	186919810	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	642446	186919810	62330811	236	14535											
KCNT2	343450	broad.mit.edu	37	chr1	196227322	196227322	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtagtttttaaagagcatAccatatcccactgtagaaag	7	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:196227322A>G	uc001gtd.1	-	26	3271	c.3211_splice	c.e26+1	p.D1071_splice	KCNT2_uc009wyt.1_Splice_Site|KCNT2_uc001gte.1_Splice_Site_p.D1004_splice|KCNT2_uc001gtf.1_Splice_Site_p.D1047_splice|KCNT2_uc001gtg.1_Splice_Site|KCNT2_uc001gth.1_Silent_p.G575G	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2							voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						TAAAGAGCATACCATATCCCA	0.353													G	196227322	A	G	196227322	5	3	19	1	0	0	0	0	0	0	1	0	8092	405	14	3	206	3	KCNT2	1	196227322	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	9307512	196227322	53023299	237	14536											
KCNT2	343450	broad.mit.edu	37	chr1	196227479	196227479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccttttctgctcagtcttCgggcccactgcatgcttttt	9	13	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:196227479C>T	uc001gtd.1	-	26	3116	c.3056G>A	c.(3055-3057)CGA>CAA	p.R1019Q	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.R952Q|KCNT2_uc001gtf.1_Missense_Mutation_p.R995Q|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Missense_Mutation_p.R523Q	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1019	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						GCTCAGTCTTCGGGCCCACTG	0.512													T	196227479	C	T	196227479	3	4	19	1	0	0	0	0	1	0	0	0	8092	884	31	1	363	1	KCNT2	1	196227479	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	157	196227479	53023142	238	14537											
ASPM	259266	broad.mit.edu	37	chr1	197073120	197073120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagactgtagtgaaataacaGcttttctttgtaacctcatc	6	8	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:197073120G>A	uc001gtu.2	-	18	5518	c.5261C>T	c.(5260-5262)GCT>GTT	p.A1754V	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1754	IQ 6.|IQ 7.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TGAAATAACAGCTTTTCTTTG	0.358													A	197073120	G	A	197073120	3	1	19	1	0	0	0	0	1	0	0	0	1056	971	34	2	5216	2	ASPM	1	197073120	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	845641	197073120	52177501	239	14538											
ASPM	259266	broad.mit.edu	37	chr1	197091176	197091176	+	Splice_Site	DEL	A	A	-													caaataggtaataaccacctAaaaaaaacccacaaaagata							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:197091175_197091175TA>T	uc001gtu.3	-	16	3999	c.3742_splice	c.e16-1	p.V1248_splice	ASPM_uc001gtv.3_Splice_Site_p.V1248_splice|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1248					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATAACCACCTAAAAAAAACC	0.303													-	197091176	A	-	197091176	8	5	19	1	0	1	0	1	0	0	1	0	1056	377	13	0		0	ASPM	1	197091176	Splice_Site	DEL	A	TCGA-BR-4361-01A-01D-1158-08	18056	197091176	52159445	240	14539											
ZBTB41	360023	broad.mit.edu	37	chr1	197144177	197144177	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaaggtgtacgcttttgtAatgaacagtgagatgatccc	10	8	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:197144177A>G	uc001gtx.1	-	8	2017	c.1948T>C	c.(1948-1950)TAC>CAC	p.Y650H	ZBTB41_uc009wyz.1_RNA	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	650	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						ACGCTTTTGTAATGAACAGTG	0.353													G	197144177	A	G	197144177	3	3	19	1	0	0	0	0	1	0	0	0	17540	362	13	3	793	3	ZBTB41	1	197144177	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	53001	197144177	52106444	241	14540											
ZBTB41	360023	broad.mit.edu	37	chr1	197145784	197145784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatcttttatcatcatgatGtactcgtaagtgaagtctat	6	6	4	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:197145784G>A	uc001gtx.1	-	7	1858	c.1789C>T	c.(1789-1791)CAT>TAT	p.H597Y	ZBTB41_uc009wyz.1_RNA	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	597	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						TCATCATGATGTACTCGTAAG	0.303													A	197145784	G	A	197145784	3	1	19	1	0	0	0	0	1	0	0	0	17540	1377	48	4	956	4	ZBTB41	1	197145784	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1607	197145784	52104837	242	14541											
CAMSAP1L1	23271	broad.mit.edu	37	chr1	200817864	200817864	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatgatattcgaactggcaAcaccagggaagctttgagtc	10	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:200817864A>G	uc001gvl.2	+	12	2270	c.2000A>G	c.(1999-2001)AAC>AGC	p.N667S	CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.N656S|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.N640S	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	667						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						CGAACTGGCAACACCAGGGAA	0.423													G	200817864	A	G	200817864	3	3	19	1	0	0	0	0	1	0	0	0	2612	43	2	3	2009	3	CAMSAP1L1	1	200817864	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3672080	200817864	48432757	243	14542											
CACNA1S	779	broad.mit.edu	37	chr1	201012511	201012511	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggggttggtgcgtggatctTgtgggaagtcctccaagaag	18	6	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:201012511T>C	uc001gvv.2	-	40	5173	c.4946A>G	c.(4945-4947)CAA>CGA	p.Q1649R		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1649	Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCGTGGATCTTGTGGGAAGTC	0.542											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	201012511	T	C	201012511	3	2	19	1	0	0	0	0	1	0	0	0	2547	1812	63	3	695	3	CACNA1S	1	201012511	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	194647	201012511	48238110	244	14543											
CACNA1S	779	broad.mit.edu	37	chr1	201027620	201027620	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggggtctccaaagtagccCtgggaaggaaaaggatggga	16	7	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:201027620C>A	uc001gvv.2	-	28	3753	c.3526_splice	c.e28-1	p.G1176_splice		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,						axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CAAAGTAGCCCTGGGAAGGAA	0.547													A	201027620	C	A	201027620	5	1	19	1	0	0	0	0	0	0	1	0	2547	695	24	5	2164	5	CACNA1S	1	201027620	Splice_Site	SNP	C	TCGA-BR-4361-01A-01D-1158-08	15109	201027620	48223001	245	14544											
CACNA1S	779	broad.mit.edu	37	chr1	201058496	201058496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggttgggccctggccagcCgccccggcactcactgccat	12	17	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:201058496C>T	uc001gvv.2	-	6	1017	c.790G>A	c.(790-792)GGC>AGC	p.G264S		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	264	Extracellular (Potential).|I.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCTGGCCAGCCGCCCCGGCAC	0.622													T	201058496	C	T	201058496	3	4	19	1	0	0	0	0	1	0	0	0	2547	652	23	1	4987	1	CACNA1S	1	201058496	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	30876	201058496	48192125	246	14545											
IGFN1	91156	broad.mit.edu	37	chr1	201183362	201183362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtgcagccgggggaggCcgccacactctcctgtaccc	14	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:201183362C>T	uc001gwc.2	+	2	1038	c.266C>T	c.(265-267)GCC>GTC	p.A89V	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						CCGGGGGAGGCCGCCACACTC	0.642													T	201183362	C	T	201183362	3	4	19	1	0	0	0	0	1	0	0	0	7590	739	26	2	8832	2	IGFN1	1	201183362	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	124866	201183362	48067259	247	14546											
IGFN1	91156	broad.mit.edu	37	chr1	201187691	201187691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcggacgtgcggcaggGctgtcagtatgagttccggg	20	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:201187691G>A	uc001gwc.2	+	7	2055	c.1283G>A	c.(1282-1284)GGC>GAC	p.G428D	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						GTGCGGCAGGGCTGTCAGTAT	0.627													A	201187691	G	A	201187691	3	1	19	1	0	0	0	0	1	0	0	0	7590	1203	42	2	9869	2	IGFN1	1	201187691	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	4329	201187691	48062930	248	14547											
ELF3	1999	broad.mit.edu	37	chr1	201983122	201983122	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaaaagaacagcaacaTgacctacgagaagctgagcc	9	9	0	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:201983122T>C	uc001gxg.3	+	7	4163	c.971T>C	c.(970-972)ATG>ACG	p.M324T	ELF3_uc001gxi.3_Missense_Mutation_p.M324T|ELF3_uc001gxh.3_Missense_Mutation_p.M324T	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	324	ETS.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						AACAGCAACATGACCTACGAG	0.602													C	201983122	T	C	201983122	3	2	19	1	0	0	0	0	1	0	0	0	5055	1464	51	3	997	3	ELF3	1	201983122	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	795431	201983122	47267499	249	14548											
ELF3	1999	broad.mit.edu	37	chr1	201984339	201984339	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccttctcttcacccaggtActactacaaacgggagatcc	6	14	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:201984339A>G	uc001gxg.3	+	8	4196	c.1004A>G	c.(1003-1005)TAC>TGC	p.Y335C	ELF3_uc001gxi.3_Missense_Mutation_p.Y335C|ELF3_uc001gxh.3_Missense_Mutation_p.Y335C	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	335	ETS.			RYYY->AAAA: Partially abrogates repressive effect on the KRT4 promoter.	epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						TCACCCAGGTACTACTACAAA	0.592													G	201984339	A	G	201984339	3	3	19	1	0	0	0	0	1	0	0	0	5055	391	14	3	1034	3	ELF3	1	201984339	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1217	201984339	47266282	250	14549											
LGR6	59352	broad.mit.edu	37	chr1	202287753	202287753	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgcgccatggtgaggcaCgtggcctggctcatcttcgc	14	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:202287753C>T	uc001gxu.2	+	18	2322	c.2322C>T	c.(2320-2322)CAC>CAT	p.H774H	LGR6_uc001gxv.2_Silent_p.H722H|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.H635H	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	774	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						TGGTGAGGCACGTGGCCTGGC	0.642													T	202287753	C	T	202287753	2	4	19	1	0	0	0	0	0	0	0	1	8758	535	19	1		1	LGR6	1	202287753	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	303414	202287753	46962868	251	14550											
TMEM183A	92703	broad.mit.edu	37	chr1	202989959	202989959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgtacaggaggattgcaGcctcccgttcagtacgaaga	12	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:202989959G>A	uc001gyu.1	+	7	886	c.828G>A	c.(826-828)CAG>CAA	p.Q276Q	TMEM183A_uc001gyv.1_RNA|TMEM183A_uc001gyw.1_Silent_p.Q275Q|TMEM183A_uc001gyx.1_Missense_Mutation_p.A273T|TMEM183A_uc001gyy.2_5'Flank	NM_001079809	NP_001073277	Q8IXX5	T183A_HUMAN	transmembrane protein 183B	276						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(75;0.18)			GAGGATTGCAGCCTCCCGTTC	0.453													A	202989959	G	A	202989959	2	1	19	1	0	0	0	0	0	0	0	1	16099	962	34	2		2	TMEM183A	1	202989959	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	702206	202989959	46260662	252	14551											
SOX13	9580	broad.mit.edu	37	chr1	204091106	204091106	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccatggccacccaccaccCcctgcaggtaccgccctcta	8	21	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:204091106C>A	uc001ham.2	+	8	1449	c.854C>A	c.(853-855)CCC>CAC	p.P285H	SOX13_uc010pqp.1_Missense_Mutation_p.P284H|SOX13_uc010pqq.1_Missense_Mutation_p.P152H	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	SRY-box 13	285	Pro-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCCACCACCCCCTGCAGGTA	0.662													A	204091106	C	A	204091106	3	1	19	1	0	0	0	0	1	0	0	0	14944	623	22	5	880	5	SOX13	1	204091106	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1101147	204091106	45159515	253	14552											
PLEKHA6	22874	broad.mit.edu	37	chr1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-													aaggtcttcaggcgggggtaCcccccggcgcagattcaccc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:204228410_204228410AC>A	uc001hau.3	-	7	1300	c.983_983GT>T	c.(982-984)gtafs	p.V328fs	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	328	Pro-rich.							p.V328fs*172(3)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			AGGCGGGGGTACCCCCCGGCG	0.627													-	204228411	C	-	204228411	7	5	19	1	0	1	0	1	0	0	0	0	12060	507	18	0	2224	0	PLEKHA6	1	204228411	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	137305	204228411	45022210	254	14553	49	2									
PLEKHA6	22874	broad.mit.edu	37	chr1	204228417	204228417	+	Frame_Shift_Del	DEL	G	G	-													ttcaggcgggggtaccccccGgcgcagattcacccactgct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:204228416_204228416CG>C	uc001hau.3	-	7	1294	c.977_977CG>G	c.(976-978)cggfs	p.R326fs	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	326	Pro-rich.							p.V328fs*172(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGGTACCCCCCGGCGCAGATT	0.627													-	204228417	G	-	204228417	7	5	19	1	0	1	0	1	0	0	0	0	12060	1115	39	0	2230	0	PLEKHA6	1	204228417	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	6	204228417	45022204	255	14554	49	2									
CNTN2	6900	broad.mit.edu	37	chr1	205030997	205030997	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgggctcccacagctcaGcctgagtggctaaaagtgat	11	12	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:205030997G>A	uc001hbr.2	+	9	1247	c.978G>A	c.(976-978)CAG>CAA	p.Q326Q	CNTN2_uc001hbq.1_Silent_p.Q217Q|CNTN2_uc009xbi.2_Silent_p.Q217Q|CNTN2_uc001hbs.2_Silent_p.Q114Q	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	326					axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCACAGCTCAGCCTGAGTGGC	0.582											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	205030997	G	A	205030997	2	1	19	1	0	0	0	0	0	0	0	1	3641	962	34	2		2	CNTN2	1	205030997	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	802580	205030997	44219624	256	14555											
CDK18	5129	broad.mit.edu	37	chr1	205492416	205492416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaccagctccacaaccggCggaatgagagtgaggggtct	13	11	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:205492416C>T	uc001hcr.2	+	2	340	c.121C>T	c.(121-123)CGG>TGG	p.R41W	CDK18_uc009xbk.1_Intron|CDK18_uc009xbl.1_RNA|CDK18_uc010pri.1_5'UTR|CDK18_uc001hcp.2_Missense_Mutation_p.R41W|CDK18_uc001hcq.2_Missense_Mutation_p.R41W|CDK18_uc010prj.1_5'UTR|CDK18_uc001hcs.2_5'UTR|CDK18_uc009xbm.1_5'Flank	NM_212503	NP_997668	Q07002	CDK18_HUMAN	PCTAIRE protein kinase 3 isoform a	39							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			stomach(2)	2						CCACAACCGGCGGAATGAGAG	0.612													T	205492416	C	T	205492416	3	4	19	1	0	0	0	0	1	0	0	0	3134	759	27	1	123	1	CDK18	1	205492416	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	461419	205492416	43758205	257	14556											
ELK4	2005	broad.mit.edu	37	chr1	205592853	205592853	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagtttgtcataattcatgTtaggcttgttcttgcgaatc	9	6	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:205592853T>C	uc001hcy.1	-	2	1408	c.158A>G	c.(157-159)AAC>AGC	p.N53S	ELK4_uc001hcz.2_Missense_Mutation_p.N53S|SLC45A3_uc010prn.1_Missense_Mutation_p.N142S|SLC45A3_uc010pro.1_Missense_Mutation_p.N326S|SLC45A3_uc010prp.1_RNA|ELK4_uc010prq.1_RNA	NM_001973	NP_001964	P28324	ELK4_HUMAN	ELK4 protein isoform a	53	ETS.					cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity				0	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			ATAATTCATGTTAGGCTTGTT	0.443			T	SLC45A3	prostate								C	205592853	T	C	205592853	3	2	19	1	0	0	0	0	1	0	0	0	5061	1725	60	3	1291	3	ELK4	1	205592853	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	100437	205592853	43657768	258	14557											
PM20D1	148811	broad.mit.edu	37	chr1	205801816	205801816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtcatcagaagggctgaCggggagggggtcaaaggcac	17	8	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:205801816C>T	uc001hdj.2	-	11	1240	c.1195G>A	c.(1195-1197)GTC>ATC	p.V399I	PM20D1_uc009xbr.2_RNA	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1 precursor	399						extracellular region	metal ion binding|peptidase activity			skin(1)	1	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GAAGGGCTGACGGGGAGGGGG	0.537													T	205801816	C	T	205801816	3	4	19	1	0	0	0	0	1	0	0	0	12128	536	19	1	325	1	PM20D1	1	205801816	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	208963	205801816	43448805	259	14558											
IKBKE	9641	broad.mit.edu	37	chr1	206649592	206649592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagccggggaacatcatgCgcctcgtaggggaggagggg	18	9	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:206649592C>T	uc001hdz.1	+	6	795	c.427C>T	c.(427-429)CGC>TGC	p.R143C	IKBKE_uc009xbu.1_Missense_Mutation_p.R143C|IKBKE_uc009xbv.1_Missense_Mutation_p.R143C|IKBKE_uc001hea.1_Missense_Mutation_p.R58C	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	143	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)					GAACATCATGCGCCTCGTAGG	0.617													T	206649592	C	T	206649592	3	4	19	1	0	0	0	0	1	0	0	0	7612	768	27	1	441	1	IKBKE	1	206649592	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	847776	206649592	42601029	260	14559											
DYRK3	8444	broad.mit.edu	37	chr1	206822274	206822274	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaaccaatggtagtatAcccctatgcagtgtattgcc	8	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:206822274A>G	uc001hej.2	+	3	1899	c.1731A>G	c.(1729-1731)ATA>ATG	p.I577M	DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.I557M	NM_003582	NP_003573	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	577					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|central_nervous_system(1)	3	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			ATGGTAGTATACCCCTATGCA	0.403													G	206822274	A	G	206822274	3	3	19	1	0	0	0	0	1	0	0	0	4857	381	14	3	1762	3	DYRK3	1	206822274	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	172682	206822274	42428347	261	14560											
CR1	1378	broad.mit.edu	37	chr1	207785082	207785082	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctaagccatcaggacaactTttcacctgggcaggaagtgt	10	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:207785082T>C	uc001hfy.2	+	30	5146	c.5006T>C	c.(5005-5007)TTT>TCT	p.F1669S	CR1_uc001hfx.2_Missense_Mutation_p.F2119S	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1669	Sushi 26.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						CAGGACAACTTTTCACCTGGG	0.557													C	207785082	T	C	207785082	3	2	19	1	0	0	0	0	1	0	0	0	3840	1841	64	3	6506	3	CR1	1	207785082	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	962808	207785082	41465539	262	14561											
PLXNA2	5362	broad.mit.edu	37	chr1	208225688	208225688	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacccgtagaactcgcaggTctggttgcccaggtagactg	12	12	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:208225688T>C	uc001hgz.2	-	15	3735	c.2977A>G	c.(2977-2979)ACC>GCC	p.T993A		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	993	Extracellular (Potential).|IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AACTCGCAGGTCTGGTTGCCC	0.542													C	208225688	T	C	208225688	3	2	19	1	0	0	0	0	1	0	0	0	12120	1667	58	3	2779	3	PLXNA2	1	208225688	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	440606	208225688	41024933	263	14562											
CAMK1G	57172	broad.mit.edu	37	chr1	209785386	209785386	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccctggtggcaggtccCtcaactgcctggtcaatggc	12	15	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:209785386C>A	uc001hhd.2	+	11	1267	c.1165C>A	c.(1165-1167)CTC>ATC	p.L389I	CAMK1G_uc001hhf.3_Missense_Mutation_p.L389I|CAMK1G_uc001hhe.2_Missense_Mutation_p.L389I	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	389						Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TGGCAGGTCCCTCAACTGCCT	0.677													A	209785386	C	A	209785386	3	1	19	1	0	0	0	0	1	0	0	0	2598	681	24	5	1203	5	CAMK1G	1	209785386	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1559698	209785386	39465235	264	14563											
LAMB3	3914	broad.mit.edu	37	chr1	209800773	209800773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgcgggtcgcaggcacaCggttcacagccctggccact	13	14	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:209800773C>T	uc001hhg.2	-	11	1830	c.1440G>A	c.(1438-1440)CCG>CCA	p.P480P	LAMB3_uc009xco.2_Silent_p.P480P|LAMB3_uc001hhh.2_Silent_p.P480P|LAMB3_uc010psl.1_RNA	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	480	Laminin EGF-like 4.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CGCAGGCACACGGTTCACAGC	0.652											OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	209800773	C	T	209800773	2	4	19	1	0	0	0	0	0	0	0	1	8612	523	19	1		1	LAMB3	1	209800773	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	15387	209800773	39449848	265	14564											
NEK2	4751	broad.mit.edu	37	chr1	211847636	211847636	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttttaaaagattatgcttAcctttccttggttccctttg	5	8	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:211847636A>G	uc001hir.1	-	2	460	c.314_splice	c.e2+1	p.R105_splice	NEK2_uc001hiq.1_Splice_Site_p.R105_splice|NEK2_uc001his.3_Splice_Site_p.R105_splice|NEK2_uc001hit.1_Splice_Site	NM_002497	NP_002488	P51955	NEK2_HUMAN	NIMA-related kinase 2						cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		GATTATGCTTACCTTTCCTTG	0.338													G	211847636	A	G	211847636	5	3	19	1	0	0	0	0	0	0	1	0	10324	405	14	3	1049	3	NEK2	1	211847636	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2046863	211847636	37402985	266	14565											
INTS7	25896	broad.mit.edu	37	chr1	212141247	212141247	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcctcaaagttgctgagTcagcatcaaaagatgcctgg	9	10	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:212141247T>C	uc001hiw.1	-	15	2192	c.2087A>G	c.(2086-2088)GAC>GGC	p.D696G	INTS7_uc009xdb.1_Missense_Mutation_p.D696G|INTS7_uc001hix.1_Missense_Mutation_p.D572G|INTS7_uc001hiy.1_Missense_Mutation_p.D696G|INTS7_uc010pta.1_Missense_Mutation_p.D647G	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	696					snRNA processing	integrator complex	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		AGTTGCTGAGTCAGCATCAAA	0.368													C	212141247	T	C	212141247	3	2	19	1	0	0	0	0	1	0	0	0	7783	1667	58	3	825	3	INTS7	1	212141247	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	293611	212141247	37109374	267	14566											
DTL	51514	broad.mit.edu	37	chr1	212254037	212254037	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaccaggaggtgataaActttccacggtgggttgggc	15	7	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:212254037A>G	uc009xdc.2	+	13	1520	c.1206A>G	c.(1204-1206)AAA>AAG	p.K402K	DTL_uc010ptb.1_Silent_p.K360K|DTL_uc001hiz.3_Silent_p.K131K	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	denticleless homolog	402					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		GAGGTGATAAACTTTCCACGG	0.418													G	212254037	A	G	212254037	2	3	19	1	0	0	0	0	0	0	0	1	4787	40	2	3		3	DTL	1	212254037	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	112790	212254037	36996584	268	14567											
PTPN14	5784	broad.mit.edu	37	chr1	214557902	214557902	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgagggcacgatgatcgcGctgtgccggtggctcgggat	17	10	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:214557902G>A	uc001hkk.1	-	13	1567	c.1296C>T	c.(1294-1296)AGC>AGT	p.S432S	PTPN14_uc010pty.1_Silent_p.S333S	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	432					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CGATGATCGCGCTGTGCCGGT	0.592													A	214557902	G	A	214557902	2	1	19	1	0	0	0	0	0	0	0	1	12783	1078	38	1		1	PTPN14	1	214557902	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2303865	214557902	34692719	269	14568											
CENPF	1063	broad.mit.edu	37	chr1	214826249	214826249	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttcacagaagctggagataGaccttttaaagtctagtaaa	9	6	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:214826249G>T	uc001hkm.2	+	16	8413	c.8239G>T	c.(8239-8241)GAC>TAC	p.D2747Y		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2843	Potential.|Sufficient for self-association.|Sufficient for centromere localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GCTGGAGATAGACCTTTTAAA	0.328													T	214826249	G	T	214826249	3	4	19	1	0	0	0	0	1	0	0	0	3231	942	33	5	8297	5	CENPF	1	214826249	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	268347	214826249	34424372	270	14569											
KCTD3	51133	broad.mit.edu	37	chr1	215792534	215792534	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagagctactcaaattacTcgatcaatgtgatttgagca	8	7	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:215792534T>C	uc001hks.2	+	17	2081	c.1787T>C	c.(1786-1788)CTC>CCC	p.L596P	KCTD3_uc001hkt.2_Missense_Mutation_p.L594P|KCTD3_uc010pub.1_Missense_Mutation_p.L494P|KCTD3_uc009xdn.2_Missense_Mutation_p.L320P	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	596						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CTCAAATTACTCGATCAATGT	0.403													C	215792534	T	C	215792534	3	2	19	1	0	0	0	0	1	0	0	0	8110	1551	54	3	1853	3	KCTD3	1	215792534	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	966285	215792534	33458087	271	14570											
SPATA17	128153	broad.mit.edu	37	chr1	218036154	218036154	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatcatttgagctcttctcAaagtatggaaaattatattc	5	8	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:218036154A>G	uc001hlh.1	+	10	1070	c.1044A>G	c.(1042-1044)TCA>TCG	p.S348S	SPATA17_uc001hli.2_Silent_p.S348S	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	348						cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGCTCTTCTCAAAGTATGGAA	0.284													G	218036154	A	G	218036154	2	3	19	1	0	0	0	0	0	0	0	1	15001	117	5	3		3	SPATA17	1	218036154	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2243620	218036154	31214467	272	14571											
TP53BP2	7159	broad.mit.edu	37	chr1	223987704	223987704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcaaacattgagaacggaCgcactttcttctctttctcc	5	13	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:223987704C>T	uc010pvb.1	-	11	1674	c.1382G>A	c.(1381-1383)CGT>CAT	p.R461H	TP53BP2_uc001hod.2_Missense_Mutation_p.R332H|TP53BP2_uc010puz.1_5'UTR|TP53BP2_uc010pva.1_Missense_Mutation_p.R100H	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	455					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		TGAGAACGGACGCACTTTCTT	0.428													T	223987704	C	T	223987704	3	4	19	1	0	0	0	0	1	0	0	0	16381	536	19	1	2054	1	TP53BP2	1	223987704	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	5951550	223987704	25262917	273	14572											
TMEM63A	9725	broad.mit.edu	37	chr1	226058796	226058796	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcagacggaagatggcagtCagccagggacagcatccctg	14	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:226058796C>T	uc001hpm.1	-	6	601	c.351G>A	c.(349-351)CTG>CTA	p.L117L	TMEM63A_uc010pvi.1_Silent_p.L117L	NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	117						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					AGATGGCAGTCAGCCAGGGAC	0.522													T	226058796	C	T	226058796	2	4	19	1	0	0	0	0	0	0	0	1	16187	813	29	4		4	TMEM63A	1	226058796	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2071092	226058796	23191825	274	14573											
ITPKB	3707	broad.mit.edu	37	chr1	226924812	226924812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcggggagagggtaccGgctgccaccacctgctgccg	16	15	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:226924812G>A	uc010pvo.1	-	2	688	c.348C>T	c.(346-348)GCC>GCT	p.A116A	ITPKB_uc001hqh.2_Silent_p.A116A	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	116							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				AGAGGGTACCGGCTGCCACCA	0.527													A	226924812	G	A	226924812	2	1	19	1	0	0	0	0	0	0	0	1	7918	1103	39	1		1	ITPKB	1	226924812	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	866016	226924812	22325809	275	14574											
ARF1	375	broad.mit.edu	37	chr1	228284858	228284858	+	Frame_Shift_Del	DEL	A	A	-													tcttcaagggcctttttggcAaaaaagaaatgcgcatcctc					rs11541555		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:228284857_228284857CA>C	uc001hrs.3	+	1	185	c.42_42CA>C	c.(40-42)ggcfs	p.G14fs	ARF1_uc001hrr.3_Frame_Shift_Del_p.G14fs|ARF1_uc001hru.3_Frame_Shift_Del_p.G14fs|ARF1_uc001hrv.3_Frame_Shift_Del_p.G14fs|MIR3620_uc021pkd.1_5'Flank	NM_001658	NP_001649	P84077	ARF1_HUMAN	Homo sapiens ADP-ribosylation factor 1 (ARF1), transcript variant 4, mRNA.	14					COPI coating of Golgi vesicle|cellular copper ion homeostasis|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	Golgi membrane|cytosol|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				GCCTTTTTGGCAAAAAAGAAA	0.542													-	228284858	A	-	228284858	7	5	19	1	0	1	0	1	0	0	0	0	844	131	5	0	45	0	ARF1	1	228284858	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	1360046	228284858	20965763	276	14575											
OBSCN	84033	broad.mit.edu	37	chr1	228496809	228496809	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtccagctcctgaggTgaccatcctggagcccctgc	11	16	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:228496809T>C	uc009xez.1	+	48	12793	c.12749T>C	c.(12748-12750)GTG>GCG	p.V4250A	OBSCN_uc001hsn.2_Missense_Mutation_p.V4250A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4250	Ig-like 44.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCTCCTGAGGTGACCATCCTG	0.647													C	228496809	T	C	228496809	3	2	19	1	0	0	0	0	1	0	0	0	10812	1696	59	3	12935	3	OBSCN	1	228496809	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	211951	228496809	20753812	277	14576											
URB2	9816	broad.mit.edu	37	chr1	229772691	229772691	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccatgggcaaagcccaggaAgtctcaatagatgaagaggc	12	10	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:229772691A>C	uc001hts.1	+	4	2467	c.2331A>C	c.(2329-2331)GAA>GAC	p.E777D	URB2_uc009xfd.1_Missense_Mutation_p.E777D	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	777						nucleolus				central_nervous_system(2)|ovary(1)	3						AAGCCCAGGAAGTCTCAATAG	0.443													C	229772691	A	C	229772691	3	2	19	1	0	0	0	0	1	0	0	0	17022	69	3	5	2341	5	URB2	1	229772691	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1275882	229772691	19477930	278	14577											
COG2	22796	broad.mit.edu	37	chr1	230800261	230800261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcttatacaagttattcGgtcagttgagaaaattgaaa	10	4	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:230800261G>A	uc001htw.2	+	5	564	c.413G>A	c.(412-414)CGG>CAG	p.R138Q	COG2_uc001htx.2_Missense_Mutation_p.R138Q|COG2_uc010pwc.1_Missense_Mutation_p.R11Q	NM_007357	NP_031383	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2 isoform	138					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CAAGTTATTCGGTCAGTTGAG	0.269													A	230800261	G	A	230800261	3	1	19	1	0	0	0	0	1	0	0	0	3658	1116	39	1	431	1	COG2	1	230800261	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1027570	230800261	18450360	279	14578											
TTC13	79573	broad.mit.edu	37	chr1	231061307	231061307	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaccaggtgtttcatatTgcatcagggatcccaaacga	10	9	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:231061307T>C	uc001huf.3	-	13	1575	c.1544A>G	c.(1543-1545)CAA>CGA	p.Q515R	TTC13_uc009xfi.2_Missense_Mutation_p.Q462R|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.Q462R|TTC13_uc009xfk.1_Missense_Mutation_p.Q405R	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	515							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TGTTTCATATTGCATCAGGGA	0.413													C	231061307	T	C	231061307	3	2	19	1	0	0	0	0	1	0	0	0	16677	1812	63	3	1082	3	TTC13	1	231061307	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	261046	231061307	18189314	280	14579											
GNPAT	8443	broad.mit.edu	37	chr1	231409726	231409726	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccatacaagtgactacgaAagacatcctagttacagaga	8	9	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:231409726A>G	uc001hup.3	+	12	1867	c.1661A>G	c.(1660-1662)AAA>AGA	p.K554R	GNPAT_uc009xfp.2_Missense_Mutation_p.K493R	NM_014236	NP_055051	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	554					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			ovary(3)|breast(1)	4	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GTGACTACGAAAGACATCCTA	0.373													G	231409726	A	G	231409726	3	3	19	1	0	0	0	0	1	0	0	0	6541	14	1	3	1707	3	GNPAT	1	231409726	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	348419	231409726	17840895	281	14580											
SLC35F3	148641	broad.mit.edu	37	chr1	234444889	234444889	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacaatggcttgactttgaaGgtgttttttaccaaggcagc	11	7	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:234444889G>T	uc001hwa.1	+	3	672	c.444G>T	c.(442-444)AAG>AAT	p.K148N	SLC35F3_uc001hvy.1_Missense_Mutation_p.K217N	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	148					transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TGACTTTGAAGGTGTTTTTTA	0.403													T	234444889	G	T	234444889	3	4	19	1	0	0	0	0	1	0	0	0	14590	991	35	5	665	5	SLC35F3	1	234444889	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3035163	234444889	14805732	282	14581											
ARID4B	51742	broad.mit.edu	37	chr1	235345681	235345681	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctactgttttccatgcaaagTgattctttgttcttggcctt	7	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:235345681T>C	uc001hwq.2	-	20	3051	c.2553A>G	c.(2551-2553)TCA>TCG	p.S851S	ARID4B_uc001hwr.2_Silent_p.S765S|ARID4B_uc001hws.3_Silent_p.S765S|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Silent_p.S532S	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	851					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CCATGCAAAGTGATTCTTTGT	0.373													C	235345681	T	C	235345681	2	2	19	1	0	0	0	0	0	0	0	1	920	1683	59	3		3	ARID4B	1	235345681	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	900792	235345681	13904940	283	14582											
B3GALNT2	148789	broad.mit.edu	37	chr1	235613631	235613631	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcattcctgtctcacaggTcttctcacacagccacagac	6	16	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:235613631T>C	uc001hxc.2	-	12	1622	c.1393A>G	c.(1393-1395)ACC>GCC	p.T465A		NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	465	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			breast(1)	1	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			GTCTCACAGGTCTTCTCACAC	0.483													C	235613631	T	C	235613631	3	2	19	1	0	0	0	0	1	0	0	0	1246	1667	58	3	113	3	B3GALNT2	1	235613631	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	267950	235613631	13636990	284	14583											
LYST	1130	broad.mit.edu	37	chr1	235973006	235973006	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcttggtgcaaaagggtcaGgctgcttttctaggcatatt	12	7	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:235973006G>T	uc001hxj.2	-	5	1287	c.1112C>A	c.(1111-1113)CCT>CAT	p.P371H	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.P371H	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	371					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAAAGGGTCAGGCTGCTTTTC	0.378									Chediak-Higashi_syndrome				T	235973006	G	T	235973006	3	4	19	1	0	0	0	0	1	0	0	0	9128	1000	35	5	10489	5	LYST	1	235973006	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	359375	235973006	13277615	285	14584											
NID1	4811	broad.mit.edu	37	chr1	236201424	236201424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgcaacacattgcctgCcattgcccgtatagccagcg	8	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:236201424C>T	uc001hxo.2	-	5	1367	c.1265G>A	c.(1264-1266)GGC>GAC	p.G422D	NID1_uc009xgd.2_Missense_Mutation_p.G422D	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	422	EGF-like 1.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	ACATTGCCTGCCATTGCCCGT	0.527													T	236201424	C	T	236201424	3	4	19	1	0	0	0	0	1	0	0	0	10414	739	26	2	2542	2	NID1	1	236201424	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	228418	236201424	13049197	286	14585											
HEATR1	55127	broad.mit.edu	37	chr1	236735796	236735796	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtaattccaggatgagagTtactctttgccagtaagaac	9	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:236735796T>C	uc001hyd.1	-	26	3747	c.3622A>G	c.(3622-3624)ACT>GCT	p.T1208A	HEATR1_uc009xgh.1_Missense_Mutation_p.T370A	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1208					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGGATGAGAGTTACTCTTTGC	0.398													C	236735796	T	C	236735796	3	2	19	1	0	0	0	0	1	0	0	0	7027	1725	60	3	2892	3	HEATR1	1	236735796	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	534372	236735796	12514825	287	14586											
MTR	4548	broad.mit.edu	37	chr1	236966835	236966835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccagcgggagaagctaaacGaagaacacttccgaggtcag	12	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:236966835G>A	uc001hyi.3	+	2	565	c.142G>A	c.(142-144)GAA>AAA	p.E48K	MTR_uc010pxv.1_Intron|MTR_uc010pxw.1_5'UTR|MTR_uc010pxx.1_Missense_Mutation_p.E48K|MTR_uc010pxy.1_Missense_Mutation_p.E48K	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	48	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GAAGCTAAACGAAGAACACTT	0.463													A	236966835	G	A	236966835	3	1	19	1	0	0	0	0	1	0	0	0	9958	1059	37	1	148	1	MTR	1	236966835	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	231039	236966835	12283786	288	14587											
MTR	4548	broad.mit.edu	37	chr1	237054567	237054567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacgacattcacctgtacGcagaggctgctgtgccccag	11	13	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:237054567G>A	uc001hyi.3	+	29	3565	c.3142G>A	c.(3142-3144)GCA>ACA	p.A1048T	MTR_uc010pxw.1_Missense_Mutation_p.A641T|MTR_uc010pxx.1_Missense_Mutation_p.A997T|MTR_uc010pxy.1_Missense_Mutation_p.A902T	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	1048	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TCACCTGTACGCAGAGGCTGC	0.547													A	237054567	G	A	237054567	3	1	19	1	0	0	0	0	1	0	0	0	9958	1087	38	1	3256	1	MTR	1	237054567	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	87732	237054567	12196054	289	14588											
RYR2	6262	broad.mit.edu	37	chr1	237955558	237955558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctacatggagcccacgttgCgtatcttagctattctgcac	9	12	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:237955558C>T	uc001hyl.1	+	94	13837	c.13717C>T	c.(13717-13719)CGT>TGT	p.R4573C	RYR2_uc010pyb.1_Missense_Mutation_p.R6C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4573					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCCACGTTGCGTATCTTAGC	0.443													T	237955558	C	T	237955558	3	4	19	1	0	0	0	0	1	0	0	0	13769	768	27	1	14091	1	RYR2	1	237955558	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	900991	237955558	11295063	290	14589											
ZP4	57829	broad.mit.edu	37	chr1	238045775	238045775	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcttgacagccaagtaggAtactaacaaggctccaagga	9	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:238045775A>G	uc001hym.2	-	12	1570	c.1570T>C	c.(1570-1572)TCC>CCC	p.S524P	LOC100130331_uc010pyc.1_RNA	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	524	Helical; (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCCAAGTAGGATACTAACAAG	0.473													G	238045775	A	G	238045775	3	3	19	1	0	0	0	0	1	0	0	0	18215	333	12	3	56	3	ZP4	1	238045775	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	90217	238045775	11204846	291	14590											
EXO1	9156	broad.mit.edu	37	chr1	242020786	242020786	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttttggctgtaaaaaggTactcacctctgactactata	7	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:242020786T>C	uc001hzh.2	+	7	1083	c.543_splice	c.e7+2	p.K181_splice	EXO1_uc001hzi.2_Splice_Site_p.K181_splice|EXO1_uc001hzj.2_Splice_Site_p.K181_splice|EXO1_uc009xgq.2_Splice_Site_p.K181_splice	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b						meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TGTAAAAAGGTACTCACCTCT	0.363								Direct_reversal_of_damage|Editing_and_processing_nucleases					C	242020786	T	C	242020786	5	2	19	1	0	0	0	0	0	0	1	0	5300	1652	57	3	559	3	EXO1	1	242020786	Splice_Site	SNP	T	TCGA-BR-4361-01A-01D-1158-08	3975011	242020786	7229835	292	14591											
HNRNPU	3192	broad.mit.edu	37	chr1	245021316	245021316	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaaaatcccttacttcAcaatctttcttctcttcagg	2	11	5	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:245021316A>G	uc001iaz.1	-	7	1709	c.1491T>C	c.(1489-1491)TGT>TGC	p.C497C	HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Silent_p.C221C|HNRNPU_uc001iba.1_Silent_p.C478C|HNRNPU_uc001ibb.1_Silent_p.C185C	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	497					CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding				0	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CCCTTACTTCACAATCTTTCT	0.373													G	245021316	A	G	245021316	2	3	19	1	0	0	0	0	0	0	0	1	7273	157	6	3		3	HNRNPU	1	245021316	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3000530	245021316	4229305	293	14592											
KIF26B	55083	broad.mit.edu	37	chr1	245847605	245847605	+	Frame_Shift_Del	DEL	C	C	-													gccgtaccaccatgatcgcgCacatctcggccgcggtcggg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:245847605delC	uc001ibf.1	+	11	2769	c.2329delC	c.(2329-2331)CACfs	p.H777fs	KIF26B_uc001ibg.1_Frame_Shift_Del_p.H395fs|KIF26B_uc001ibh.1_Frame_Shift_Del_p.H19fs	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	777					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CATGATCGCGCACATCTCGGC	0.542													-	245847605	C	-	245847605	7	5	19	1	0	1	0	1	0	0	0	0	8295	710	25	0	2371	0	KIF26B	1	245847605	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	826289	245847605	3403016	294	14593											
AHCTF1	25909	broad.mit.edu	37	chr1	247012967	247012967	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaataaaggctcattgTttggttcagaaaggtccggc	12	6	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:247012967T>C	uc001ibu.1	-	32	6348	c.6341A>G	c.(6340-6342)AAC>AGC	p.N2114S	AHCTF1_uc001ibv.1_Missense_Mutation_p.N2123S|AHCTF1_uc009xgs.1_Missense_Mutation_p.N975S|AHCTF1_uc001ibw.1_RNA	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	2114	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGGCTCATTGTTTGGTTCAGA	0.458													C	247012967	T	C	247012967	3	2	19	1	0	0	0	0	1	0	0	0	408	1725	60	3	475	3	AHCTF1	1	247012967	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1165362	247012967	2237654	295	14594											
NLRP3	114548	broad.mit.edu	37	chr1	247599444	247599444	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaacctgcagaaactggggTaagtcttcatgggtgtctta	12	7	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:247599444T>C	uc001icr.2	+	8	2807	c.2669_splice	c.e8+2	p.G890_splice	NLRP3_uc001ics.2_Intron|NLRP3_uc001icu.2_Splice_Site_p.G890_splice|NLRP3_uc001icw.2_Splice_Site_p.G833_splice|NLRP3_uc001icv.2_Intron|NLRP3_uc010pyw.1_Splice_Site_p.G868_splice	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a						detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAAACTGGGGTAAGTCTTCAT	0.453													C	247599444	T	C	247599444	5	2	19	1	0	0	0	0	0	0	1	0	10478	1652	57	3	2693	3	NLRP3	1	247599444	Splice_Site	SNP	T	TCGA-BR-4361-01A-01D-1158-08	586477	247599444	1651177	296	14595											
OR2W5	441932	broad.mit.edu	37	chr1	247655201	247655201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctacggaaccatcatctaCgtgtacctgaagccggccaa	8	13	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:247655201C>T	uc001icz.1	+	1	772	c.772C>T	c.(772-774)CGT>TGT	p.R258C		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCATCATCTACGTGTACCTGA	0.532													T	247655201	C	T	247655201	3	4	19	1	0	0	0	0	1	0	0	0	11034	536	19	1	774	1	OR2W5	1	247655201	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	55757	247655201	1595420	297	14596											
TPO	7173	broad.mit.edu	37	chr2	1480977	1480977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctgtccacggccaacccGcggcagcagatgaacgggtt	12	14	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:1480977G>A	uc002qww.2	+	8	1030	c.939G>A	c.(937-939)CCG>CCA	p.P313P	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Silent_p.P313P|TPO_uc002qwr.2_Silent_p.P313P|TPO_uc002qwx.2_Silent_p.P313P|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Silent_p.P313P	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	313	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGCCAACCCGCGGCAGCAGA	0.697													A	1480977	G	A	1480977	2	1	19	1	0	0	0	0	0	0	0	1	16407	1074	38	1		1	TPO	2	1480977	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08		1480977	241718396	298	14597											
MYT1L	23040	broad.mit.edu	37	chr2	1890312	1890312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattgtcattaaatcttactTgagttcttgggagctggtgg	11	5	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:1890312T>C	uc002qxe.2	-	18	3537	c.2710A>G	c.(2710-2712)AAG>GAG	p.K904E	MYT1L_uc002qxd.2_Missense_Mutation_p.K902E|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	904	C2HC-type 4.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AAATCTTACTTGAGTTCTTGG	0.418													C	1890312	T	C	1890312	3	2	19	1	0	0	0	0	1	0	0	0	10107	1826	63	3	882	3	MYT1L	2	1890312	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	409335	1890312	241309061	299	14598											
MYT1L	23040	broad.mit.edu	37	chr2	1926086	1926086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtatggctttttgacatgGctgtcactggatttaggctt	11	6	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:1926086G>A	uc002qxe.2	-	10	2282	c.1455C>T	c.(1453-1455)AGC>AGT	p.S485S	MYT1L_uc002qxd.2_Silent_p.S485S|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	485					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTTTGACATGGCTGTCACTGG	0.463													A	1926086	G	A	1926086	2	1	19	1	0	0	0	0	0	0	0	1	10107	1194	42	2		2	MYT1L	2	1926086	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	35774	1926086	241273287	300	14599											
MYT1L	23040	broad.mit.edu	37	chr2	1926367	1926367	+	Frame_Shift_Del	DEL	G	G	-													gctggcaaacactctcgaccGggggctcaactgctcctcca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:1926366_1926366CG>C	uc002qxe.3	-	9	2002	c.1175_1175CG>G	c.(1174-1176)cggfs	p.R392fs	MYT1L_uc002qxd.3_Frame_Shift_Del_p.R392fs|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	392					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CACTCTCGACCGGGGGCTCAA	0.597													-	1926367	G	-	1926367	7	5	19	1	0	1	0	1	0	0	0	0	10107	1115	39	0	2444	0	MYT1L	2	1926367	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	281	1926367	241273006	301	14600											
TSSC1	7260	broad.mit.edu	37	chr2	3197842	3197842	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagaacttcaccttacagTcgtctccgcagctggccaag	8	16	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:3197842T>C	uc002qxj.2	-	7	942	c.749A>G	c.(748-750)GAC>GGC	p.D250G	TSSC1_uc002qxi.2_RNA	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	250	WD 3.						protein binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CACCTTACAGTCGTCTCCGCA	0.567													C	3197842	T	C	3197842	3	2	19	1	0	0	0	0	1	0	0	0	16663	1667	58	3	426	3	TSSC1	2	3197842	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1271475	3197842	240001531	302	14601											
SOX11	6664	broad.mit.edu	37	chr2	5833227	5833227	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggccccggaaaaagcccaAaatggacccctcggccaagc	10	17	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:5833227A>G	uc002qyj.2	+	1	429	c.374A>G	c.(373-375)AAA>AGA	p.K125R		NM_003108	NP_003099	P35716	SOX11_HUMAN	SRY-box 11	125					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AAAAAGCCCAAAATGGACCCC	0.488													G	5833227	A	G	5833227	3	3	19	1	0	0	0	0	1	0	0	0	14942	14	1	3	376	3	SOX11	2	5833227	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2635385	5833227	237366146	303	14602											
KIDINS220	57498	broad.mit.edu	37	chr2	8926386	8926386	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagcctggttgccaaaaagCcaaactctctttcacaagca	6	12	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:8926386C>A	uc002qzc.2	-	16	2071	c.1889G>T	c.(1888-1890)GGC>GTC	p.G630V	KIDINS220_uc010yiv.1_Missense_Mutation_p.G396V|KIDINS220_uc002qzd.2_Missense_Mutation_p.G588V|KIDINS220_uc010yiw.1_Missense_Mutation_p.G631V	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	630	Cytoplasmic (Potential).|KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGCCAAAAAGCCAAACTCTCT	0.433													A	8926386	C	A	8926386	3	1	19	1	0	0	0	0	1	0	0	0	8271	739	26	5	3486	5	KIDINS220	2	8926386	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3093159	8926386	234272987	304	14603											
IAH1	285148	broad.mit.edu	37	chr2	9618462	9618462	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggacatcccagtagcagtTacaattttctttggggccaa	9	9	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:9618462T>C	uc002qzr.2	+	3	272	c.246T>C	c.(244-246)GTT>GTC	p.V82V	IAH1_uc002qzs.2_5'UTR|IAH1_uc002qzt.2_5'UTR|IAH1_uc010yiz.1_RNA	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog	82					lipid catabolic process		hydrolase activity, acting on ester bonds				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAGTAGCAGTTACAATTTTCT	0.368													C	9618462	T	C	9618462	2	2	19	1	0	0	0	0	0	0	0	1	7471	1741	61	3		3	IAH1	2	9618462	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	692076	9618462	233580911	305	14604											
ADAM17	6868	broad.mit.edu	37	chr2	9683306	9683306	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagctgaaaaagttagtAgtgtttctacatgtgttgaa	9	4	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:9683306A>G	uc002qzu.2	-	2	389	c.206T>C	c.(205-207)CTA>CCA	p.L69P	ADAM17_uc010ewy.2_Missense_Mutation_p.L69P|ADAM17_uc010ewz.2_Intron|ADAM17_uc010exb.1_Missense_Mutation_p.L69P|ADAM17_uc002qzv.2_Missense_Mutation_p.L69P	NM_003183	NP_003174	P78536	ADA17_HUMAN	a disintegrin and metalloprotease domain 17	69					B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			lung(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		AAAAGTTAGTAGTGTTTCTAC	0.363													G	9683306	A	G	9683306	3	3	19	1	0	0	0	0	1	0	0	0	238	420	15	3	2340	3	ADAM17	2	9683306	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	64844	9683306	233516067	306	14605											
HPCAL1	3241	broad.mit.edu	37	chr2	10560015	10560015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccccaccggccacctgacCgtggacgagttcaagaagat	11	14	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:10560015C>T	uc002raj.2	+	3	506	c.132C>T	c.(130-132)ACC>ACT	p.T44T	HPCAL1_uc002rak.2_Silent_p.T44T|HPCAL1_uc002ral.2_Silent_p.T44T|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Silent_p.T44T	NM_002149	NP_002140	P37235	HPCL1_HUMAN	hippocalcin-like 1	44	EF-hand 1.						calcium ion binding			pancreas(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		GCCACCTGACCGTGGACGAGT	0.617													T	10560015	C	T	10560015	2	4	19	1	0	0	0	0	0	0	0	1	7330	639	23	1		1	HPCAL1	2	10560015	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	876709	10560015	232639358	307	14606											
HPCAL1	3241	broad.mit.edu	37	chr2	10560033	10560033	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accgtggacgagttcaagaaGatctacgccaacttcttccc	8	13	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:10560033G>A	uc002raj.2	+	3	524	c.150G>A	c.(148-150)AAG>AAA	p.K50K	HPCAL1_uc002rak.2_Silent_p.K50K|HPCAL1_uc002ral.2_Silent_p.K50K|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Silent_p.K50K	NM_002149	NP_002140	P37235	HPCL1_HUMAN	hippocalcin-like 1	50	EF-hand 1.						calcium ion binding			pancreas(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		AGTTCAAGAAGATCTACGCCA	0.617													A	10560033	G	A	10560033	2	1	19	1	0	0	0	0	0	0	0	1	7330	933	33	4		4	HPCAL1	2	10560033	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	18	10560033	232639340	308	14607											
PQLC3	130814	broad.mit.edu	37	chr2	11317897	11317897	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgatcatgctggctttaaaTatatgggtaacagtgacagt	11	5	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:11317897T>C	uc002rbc.2	+	7	685	c.552T>C	c.(550-552)AAT>AAC	p.N184N	PQLC3_uc010yjk.1_Silent_p.N170N	NM_152391	NP_689604	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3 precursor	184	Helical; (Potential).					integral to membrane					0	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		TGGCTTTAAATATATGGGTAA	0.368													C	11317897	T	C	11317897	2	2	19	1	0	0	0	0	0	0	0	1	12420	1403	49	3		3	PQLC3	2	11317897	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	757864	11317897	231881476	309	14608											
NBAS	51594	broad.mit.edu	37	chr2	15468396	15468396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttctctagatcttcattgGctgtagttccgatttgatat	8	7	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:15468396G>A	uc002rcc.1	-	37	4414	c.4388C>T	c.(4387-4389)GCC>GTC	p.A1463V	NBAS_uc010exl.1_Missense_Mutation_p.A535V|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1463										ovary(2)|liver(1)|skin(1)	4						ATCTTCATTGGCTGTAGTTCC	0.303													A	15468396	G	A	15468396	3	1	19	1	0	0	0	0	1	0	0	0	10186	1203	42	2	2791	2	NBAS	2	15468396	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	4150499	15468396	227730977	310	14609											
DDX1	1653	broad.mit.edu	37	chr2	15743351	15743351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtatcctgtcatgaccaaGggttatgcagggtcgggtgg	15	7	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:15743351G>A	uc002rce.2	+	8	715	c.427G>A	c.(427-429)GGG>AGG	p.G143R	DDX1_uc010yjq.1_Missense_Mutation_p.G51R	NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	143	B30.2/SPRY.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.|Helicase ATP-binding.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TCATGACCAAGGGTTATGCAG	0.388													A	15743351	G	A	15743351	3	1	19	1	0	0	0	0	1	0	0	0	4341	1000	35	4	457	4	DDX1	2	15743351	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	274955	15743351	227456022	311	14610											
FAM49A	81553	broad.mit.edu	37	chr2	16742786	16742786	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagctgaagtcattctgaaTagccgggttcctcatctgaa	10	9	4	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:16742786T>C	uc010exm.1	-	6	599	c.451A>G	c.(451-453)ATT>GTT	p.I151V	FAM49A_uc002rck.1_Missense_Mutation_p.I151V	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	151						intracellular					0	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TCATTCTGAATAGCCGGGTTC	0.483													C	16742786	T	C	16742786	3	2	19	1	0	0	0	0	1	0	0	0	5575	1406	49	3	544	3	FAM49A	2	16742786	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	999435	16742786	226456587	312	14611											
PUM2	23369	broad.mit.edu	37	chr2	20453706	20453706	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaggaccatcattctggcaGcaaacctcgtcaatcagtaa	8	11	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:20453706G>T	uc002rds.1	-	19	2963	c.2940C>A	c.(2938-2940)TGC>TGA	p.C980*	PUM2_uc002rdq.1_Nonsense_Mutation_p.C359*|PUM2_uc002rdt.1_Nonsense_Mutation_p.C980*|PUM2_uc002rdr.2_Nonsense_Mutation_p.C840*|PUM2_uc010yjy.1_Nonsense_Mutation_p.C901*|PUM2_uc002rdu.1_Nonsense_Mutation_p.C980*|PUM2_uc010yjz.1_Nonsense_Mutation_p.C919*	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	982	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTCTGGCAGCAAACCTCGT	0.418													T	20453706	G	T	20453706	4	4	19	1	0	0	0	0	0	1	0	0	12826	963	34	5	262	5	PUM2	2	20453706	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3710920	20453706	222745667	313	14612											
HS1BP3	64342	broad.mit.edu	37	chr2	20845123	20845123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactggacgacatcctcggGcctgtgcttggccgacttga	13	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:20845123G>A	uc002rdw.1	-	2	216	c.175C>T	c.(175-177)CCC>TCC	p.P59S	HS1BP3_uc002rdx.2_Missense_Mutation_p.P59S|HS1BP3_uc002rdy.2_Missense_Mutation_p.P59S	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	59	PX.				cell communication		phosphatidylinositol binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATCCTCGGGCCTGTGCTTG	0.642													A	20845123	G	A	20845123	3	1	19	1	0	0	0	0	1	0	0	0	7361	1203	42	2	1027	2	HS1BP3	2	20845123	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	391417	20845123	222354250	314	14613											
NCOA1	8648	broad.mit.edu	37	chr2	24929467	24929467	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggctttctcctcaagatgaCactaattctggaatgtcaat	8	9	4	2	rs142572701		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:24929467C>A	uc002rfk.2	+	11	1386	c.1128C>A	c.(1126-1128)GAC>GAA	p.D376E	NCOA1_uc010eye.2_Missense_Mutation_p.D376E|NCOA1_uc002rfi.2_Missense_Mutation_p.D225E|NCOA1_uc002rfj.2_Missense_Mutation_p.D376E|NCOA1_uc002rfl.2_Missense_Mutation_p.D376E	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	376	Interaction with STAT3.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCAAGATGACACTAATTCTG	0.403			T	PAX3	alveolar rhadomyosarcoma								A	24929467	C	A	24929467	3	1	19	1	0	0	0	0	1	0	0	0	10228	477	17	5	1162	5	NCOA1	2	24929467	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	4084344	24929467	218269906	315	14614											
KIF3C	3797	broad.mit.edu	37	chr2	26203675	26203675	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttggggtcctcgttcAcctggggcttgttcttgatg	13	10	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:26203675A>G	uc002rgu.2	-	1	1769	c.1112T>C	c.(1111-1113)GTG>GCG	p.V371A	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.V371A	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	371	Kinesin-motor.				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)					GTCCTCGTTCACCTGGGGCTT	0.602													G	26203675	A	G	26203675	3	3	19	1	0	0	0	0	1	0	0	0	8302	159	6	3	1301	3	KIF3C	2	26203675	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1274208	26203675	216995698	316	14615											
AGBL5	60509	broad.mit.edu	37	chr2	27290410	27290410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagcccctgaaccatcGtcctgcaggcagcctcgctc	10	18	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:27290410G>A	uc002rie.2	+	12	2355	c.2138G>A	c.(2137-2139)CGT>CAT	p.R713H	AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	713					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGAACCATCGTCCTGCAGGC	0.562													A	27290410	G	A	27290410	3	1	19	1	0	0	0	0	1	0	0	0	378	1145	40	1	2245	1	AGBL5	2	27290410	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1086735	27290410	215908963	317	14616											
SLC5A6	8884	broad.mit.edu	37	chr2	27426119	27426119	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaaggcctctggaaagcaTgatggcccgggcttcagaga	13	11	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:27426119T>C	uc002rjd.2	-	11	1580	c.1189A>G	c.(1189-1191)ATG>GTG	p.M397V	SLC5A6_uc010eyv.1_Missense_Mutation_p.M397V	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	397	Helical; (Potential).				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CTGGAAAGCATGATGGCCCGG	0.463													C	27426119	T	C	27426119	3	2	19	1	0	0	0	0	1	0	0	0	14669	1464	51	3	746	3	SLC5A6	2	27426119	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	135709	27426119	215773254	318	14617											
SLC30A3	7781	broad.mit.edu	37	chr2	27479689	27479689	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgaagaacgtctcggagggTgggagcggtggatccaaggg	19	7	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:27479689T>C	uc002rjk.2	-	6	1036	c.850A>G	c.(850-852)ACC>GCC	p.T284A	SLC30A3_uc002rjj.2_Silent_p.P129P|SLC30A3_uc010ylh.1_Missense_Mutation_p.T279A	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter),	284	Helical; (Potential).				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCGGAGGGTGGGAGCGGTG	0.587													C	27479689	T	C	27479689	3	2	19	1	0	0	0	0	1	0	0	0	14556	1696	59	3	328	3	SLC30A3	2	27479689	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	53570	27479689	215719684	319	14618											
SNX17	9784	broad.mit.edu	37	chr2	27599213	27599213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggggggtactctgagaCgctcagacagccagcaagca	16	10	2	2	rs144142186	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:27599213C>T	uc002rkg.1	+	13	1438	c.1216C>T	c.(1216-1218)CGC>TGC	p.R406C	SNX17_uc010ylj.1_Missense_Mutation_p.R386C|SNX17_uc010ylk.1_Missense_Mutation_p.R192C|SNX17_uc010eza.1_Missense_Mutation_p.R192C|SNX17_uc002rki.1_RNA|SNX17_uc002rkh.1_Missense_Mutation_p.R192C|SNX17_uc010yll.1_Missense_Mutation_p.R192C|SNX17_uc010ylm.1_Missense_Mutation_p.R192C|SNX17_uc010yln.1_Missense_Mutation_p.R394C|SNX17_uc010ylo.1_Missense_Mutation_p.R324C|SNX17_uc010ylp.1_Missense_Mutation_p.R381C|SNX17_uc010ylq.1_Missense_Mutation_p.R192C	NM_014748	NP_055563	Q15036	SNX17_HUMAN	sorting nexin 17	406					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACTCTGAGACGCTCAGACAG	0.607													T	27599213	C	T	27599213	3	4	19	1	0	0	0	0	1	0	0	0	14888	536	19	1	1266	1	SNX17	2	27599213	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	119524	27599213	215600160	320	14619											
ZNF513	130557	broad.mit.edu	37	chr2	27601437	27601437	+	Frame_Shift_Del	DEL	G	G	-													caggtcgggcagggaggagtGgggggccctgcgtgggtacg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:27601436_27601436TG>T	uc002rkk.3	-	2	915	c.697_697CA>A	c.(697-699)actfs	p.T233fs	ZNF513_uc002rkj.3_Frame_Shift_Del_p.T171fs	NM_144631	NP_001188388	Q8N8E2	ZN513_HUMAN	Homo sapiens zinc finger protein 513 (ZNF513), transcript variant 1, mRNA.	233					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGGAGGAGTGGGGGGCCCT	0.706													-	27601437	G	-	27601437	7	5	19	1	0	1	0	1	0	0	0	0	17955	1335	47	0	937	0	ZNF513	2	27601437	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	2224	27601437	215597936	321	14620											
RBKS	64080	broad.mit.edu	37	chr2	28050434	28050434	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttaaattttaaaacttacCgtggtatccacagccttgac	5	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:28050434C>T	uc002rlo.1	-	7	806	c.795G>A	c.(793-795)ACG>ACA	p.T265T	RBKS_uc010ezi.1_Silent_p.T198T|RBKS_uc010ymg.1_Silent_p.T265T	NM_022128	NP_071411	Q9H477	RBSK_HUMAN	ribokinase	265					D-ribose metabolic process		ATP binding|ribokinase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)					TAAAACTTACCGTGGTATCCA	0.383													T	28050434	C	T	28050434	2	4	19	1	0	0	0	0	0	0	0	1	13108	666	23	1		1	RBKS	2	28050434	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	448997	28050434	215148939	322	14621											
PLB1	151056	broad.mit.edu	37	chr2	28801025	28801025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctgatgaagaatgacacGgtgggtccctgggatgggaa	16	7	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:28801025G>A	uc002rmb.1	+	22	1485	c.1485G>A	c.(1483-1485)ACG>ACA	p.T495T	PLB1_uc010ezj.1_Silent_p.T506T|PLB1_uc002rmc.2_Silent_p.T183T|PLB1_uc002rmd.1_Silent_p.T5T	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	495	4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential).				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					AGAATGACACGGTGGGTCCCT	0.567													A	28801025	G	A	28801025	2	1	19	1	0	0	0	0	0	0	0	1	12024	1130	39	1		1	PLB1	2	28801025	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	750591	28801025	214398348	323	14622											
SPDYA	245711	broad.mit.edu	37	chr2	29063182	29063182	+	Frame_Shift_Del	DEL	A	A	-													tagattgttcactctgtggtAaaaaaagaagatatgttaga							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:29063182delA	uc002rmj.2	+	7	903	c.697delA	c.(697-699)AAAfs	p.K233fs	SPDYA_uc002rmi.2_Frame_Shift_Del_p.K233fs|SPDYA_uc002rmk.2_Frame_Shift_Del_p.K233fs|SPDYA_uc002rml.2_Frame_Shift_Del_p.K233fs	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN	speedy homolog A isoform 1	233					G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			upper_aerodigestive_tract(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					ACTCTGTGGTAAAAAAAGAAG	0.438													-	29063182	A	-	29063182	7	5	19	1	0	1	0	1	0	0	0	0	15026	363	13	0	715	0	SPDYA	2	29063182	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	262157	29063182	214136191	324	14623											
C2orf71	388939	broad.mit.edu	37	chr2	29294162	29294162	+	Frame_Shift_Del	DEL	G	G	-													gagaggcctttctgcccacaGgggggcttctctctcggctc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:29294161_29294161AG>A	uc002rmt.2	-	0	2967	c.2967_2967CT>T	c.(2965-2967)cctfs	p.P989fs		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	989					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTCTGCCCACAGGGGGGCTTC	0.642													-	29294162	G	-	29294162	7	5	19	1	0	1	0	1	0	0	0	0	2191	1000	35	0	908	0	C2orf71	2	29294162	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	230980	29294162	213905211	325	14624											
C2orf71	388939	broad.mit.edu	37	chr2	29296327	29296327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtactgtagcagctgttgCaggagatttggctgctcctg	14	8	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:29296327C>T	uc002rmt.1	-	1	801	c.801G>A	c.(799-801)CTG>CTA	p.L267L		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	267					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						GCAGCTGTTGCAGGAGATTTG	0.582													T	29296327	C	T	29296327	2	4	19	1	0	0	0	0	0	0	0	1	2191	697	25	2		2	C2orf71	2	29296327	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2165	29296327	213903046	326	14625											
LCLAT1	253558	broad.mit.edu	37	chr2	30748623	30748623	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggctcaccctacctgtggTaagttacacaccagaggaga	10	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:30748623T>C	uc002rnj.2	+	3	488	c.279_splice	c.e3+2	p.V93_splice	LCLAT1_uc010ymp.1_Intron|LCLAT1_uc002rnk.1_Splice_Site_p.V93_splice|LCLAT1_uc002rnl.2_Splice_Site_p.V55_splice|LCLAT1_uc010ymq.1_Splice_Site_p.V55_splice	NM_182551	NP_872357	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1 isoform 1						multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			ovary(2)	2						CTACCTGTGGTAAGTTACACA	0.358													C	30748623	T	C	30748623	5	2	19	1	0	0	0	0	0	0	1	0	8677	1652	57	3	287	3	LCLAT1	2	30748623	Splice_Site	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1452296	30748623	212450750	327	14626											
XDH	7498	broad.mit.edu	37	chr2	31588901	31588901	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccgggtctccttgcctccAaagcctcctcccattctctt	5	19	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:31588901A>G	uc002rnv.1	-	22	2476	c.2397T>C	c.(2395-2397)TTT>TTC	p.F799F		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	799		Molybdenum; via carbonyl oxygen.			purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCTTGCCTCCAAAGCCTCCTC	0.532													G	31588901	A	G	31588901	2	3	19	1	0	0	0	0	0	0	0	1	17423	127	5	3		3	XDH	2	31588901	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	840278	31588901	211610472	328	14627											
NLRC4	58484	broad.mit.edu	37	chr2	32449783	32449783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgctcacacgatttcccGccaaattcaactgctggaag	7	14	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:32449783G>A	uc002roi.2	-	9	3080	c.2834C>T	c.(2833-2835)GCG>GTG	p.A945V	NLRC4_uc002roj.1_Missense_Mutation_p.A945V|NLRC4_uc010ezt.1_Missense_Mutation_p.A280V	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	945	LRR 12.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACGATTTCCCGCCAAATTCAA	0.338													A	32449783	G	A	32449783	3	1	19	1	0	0	0	0	1	0	0	0	10469	1087	38	1	244	1	NLRC4	2	32449783	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	860882	32449783	210749590	329	14628											
LTBP1	4052	broad.mit.edu	37	chr2	33623566	33623566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagccaaactactgcactcCgttgaataccgccttgaatt	6	13	0	2	rs141171373	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:33623566C>T	uc002ros.2	+	34	5123	c.5123C>T	c.(5122-5124)CCG>CTG	p.P1708L	LTBP1_uc002rot.2_Missense_Mutation_p.P1382L|LTBP1_uc002rou.2_Missense_Mutation_p.P1381L|LTBP1_uc002rov.2_Missense_Mutation_p.P1328L|LTBP1_uc010ymz.1_Missense_Mutation_p.P1339L|LTBP1_uc010yna.1_Missense_Mutation_p.P1286L|LTBP1_uc010ynb.1_Missense_Mutation_p.P605L	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1707					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TACTGCACTCCGTTGAATACC	0.453													T	33623566	C	T	33623566	3	4	19	1	0	0	0	0	1	0	0	0	9073	652	23	1	5309	1	LTBP1	2	33623566	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1173783	33623566	209575807	330	14629											
FAM98A	25940	broad.mit.edu	37	chr2	33809925	33809925	+	Frame_Shift_Del	DEL	C	C	-													ggaaatgctgttcaaattgaCccccttggtgataattctgg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:33809924_33809924AC>A	uc002rpa.1	-	7	1550	c.1476_1476GT>T	c.(1474-1476)ggtfs	p.G492fs	FAM98A_uc010yne.1_Frame_Shift_Del_p.G297fs|FAM98A_uc010ynd.1_Frame_Shift_Del_p.G323fs|FAM98A_uc002roz.1_Frame_Shift_Del_p.G330fs	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	Homo sapiens family with sequence similarity 98, member A (FAM98A), mRNA.	493	Gly-rich.									NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					GTTCAAATTGACCCCCTTGGT	0.532													-	33809925	C	-	33809925	7	5	19	1	0	1	0	1	0	0	0	0	5656	507	18	0	85	0	FAM98A	2	33809925	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	186359	33809925	209389448	331	14630											
EIF2AK2	5610	broad.mit.edu	37	chr2	37347136	37347136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaattaatttttttgaatgtAtataatccaccccttttgtt	4	6	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:37347136A>G	uc010ynh.1	-	13	1771	c.1214T>C	c.(1213-1215)ATA>ACA	p.I405T	EIF2AK2_uc010fab.1_Missense_Mutation_p.I364T|EIF2AK2_uc010yng.1_Missense_Mutation_p.I405T|EIF2AK2_uc010fac.2_Missense_Mutation_p.I405T|EIF2AK2_uc010fad.2_Missense_Mutation_p.I352T	NM_002759	NP_002750	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha	405	Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			ovary(2)|lung(2)|pancreas(1)	5		all_hematologic(82;0.248)				TTTTGAATGTATATAATCCAC	0.264													G	37347136	A	G	37347136	3	3	19	1	0	0	0	0	1	0	0	0	4997	449	16	3	461	3	EIF2AK2	2	37347136	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3537211	37347136	205852237	332	14631											
SLC8A1	6546	broad.mit.edu	37	chr2	40656492	40656492	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtccctctcatccacctccAgaaccagagcaccatctaag	6	17	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:40656492A>G	uc002rrx.2	-	1	953	c.929T>C	c.(928-930)CTG>CCG	p.L310P	SLC8A1_uc002rry.2_Missense_Mutation_p.L310P|SLC8A1_uc002rrz.2_Missense_Mutation_p.L310P|SLC8A1_uc002rsa.2_Missense_Mutation_p.L310P|SLC8A1_uc002rsd.3_Missense_Mutation_p.L310P|SLC8A1_uc002rsb.1_Missense_Mutation_p.L310P|SLC8A1_uc010fan.1_Missense_Mutation_p.L310P|SLC8A1_uc002rsc.1_Missense_Mutation_p.L310P	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	310	Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ATCCACCTCCAGAACCAGAGC	0.428													G	40656492	A	G	40656492	3	3	19	1	0	0	0	0	1	0	0	0	14706	188	7	3	2140	3	SLC8A1	2	40656492	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3309356	40656492	202542881	333	14632											
THADA	63892	broad.mit.edu	37	chr2	43808916	43808916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtaaaaatactcagcaatcCacacatattttgccatatgg	6	9	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:43808916C>T	uc002rsw.3	-	8	1037	c.685G>A	c.(685-687)GGA>AGA	p.G229R	THADA_uc002rsx.3_Missense_Mutation_p.G229R|THADA_uc002rsy.3_RNA|THADA_uc002rsz.2_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.G229R|THADA_uc002rtc.3_Missense_Mutation_p.G229R|THADA_uc002rtd.2_Missense_Mutation_p.G229R	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	229							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTCAGCAATCCACACATATTT	0.338													T	43808916	C	T	43808916	3	4	19	1	0	0	0	0	1	0	0	0	15837	603	21	4	5300	4	THADA	2	43808916	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3152424	43808916	199390457	334	14633											
THADA	63892	broad.mit.edu	37	chr2	43813540	43813540	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccaacatatagcacttgcCtattttcttccaggatttca	5	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:43813540C>A	uc002rsw.3	-	7	885	c.533G>T	c.(532-534)AGA>ATA	p.R178I	THADA_uc002rsx.3_Missense_Mutation_p.R178I|THADA_uc002rsy.3_RNA|THADA_uc002rsz.2_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.R178I|THADA_uc002rtc.3_Missense_Mutation_p.R178I|THADA_uc002rtd.2_Missense_Mutation_p.R178I	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	178							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TAGCACTTGCCTATTTTCTTC	0.313													A	43813540	C	A	43813540	3	1	19	1	0	0	0	0	1	0	0	0	15837	695	24	5	5456	5	THADA	2	43813540	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	4624	43813540	199385833	335	14634											
PPM1B	5495	broad.mit.edu	37	chr2	44428693	44428693	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattgatgaatacatgcgtAacttttcagacctcagaaac	6	8	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:44428693A>G	uc002rtt.2	+	2	783	c.355A>G	c.(355-357)AAC>GAC	p.N119D	PPM1B_uc002rts.2_Missense_Mutation_p.N119D|PPM1B_uc002rtu.2_Missense_Mutation_p.N119D|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.N119D|PPM1B_uc002rtx.2_Missense_Mutation_p.N119D	NM_002706	NP_002697	O75688	PPM1B_HUMAN	protein phosphatase 1B isoform 1	119					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATACATGCGTAACTTTTCAGA	0.403													G	44428693	A	G	44428693	3	3	19	1	0	0	0	0	1	0	0	0	12336	362	13	3	357	3	PPM1B	2	44428693	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	615153	44428693	198770680	336	14635											
PPM1B	5495	broad.mit.edu	37	chr2	44428717	44428717	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcagacctcagaaacgggAtggacaggagtggttcaact	12	8	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:44428717A>G	uc002rtt.2	+	2	807	c.379A>G	c.(379-381)ATG>GTG	p.M127V	PPM1B_uc002rts.2_Missense_Mutation_p.M127V|PPM1B_uc002rtu.2_Missense_Mutation_p.M127V|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.M127V|PPM1B_uc002rtx.2_Missense_Mutation_p.M127V	NM_002706	NP_002697	O75688	PPM1B_HUMAN	protein phosphatase 1B isoform 1	127					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAGAAACGGGATGGACAGGAG	0.398													G	44428717	A	G	44428717	3	3	19	1	0	0	0	0	1	0	0	0	12336	333	12	3	381	3	PPM1B	2	44428717	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	24	44428717	198770656	337	14636											
PPM1B	5495	broad.mit.edu	37	chr2	44436356	44436356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttaatacacagggaagtcGagataacatgagtattgtac	9	6	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:44436356G>A	uc002rtt.2	+	3	1282	c.854G>A	c.(853-855)CGA>CAA	p.R285Q	PPM1B_uc002rts.2_Missense_Mutation_p.R285Q|PPM1B_uc002rtu.2_Missense_Mutation_p.R285Q|PPM1B_uc002rtv.2_5'UTR|PPM1B_uc002rtw.2_Missense_Mutation_p.R285Q|PPM1B_uc002rtx.2_Missense_Mutation_p.R285Q	NM_002706	NP_002697	O75688	PPM1B_HUMAN	protein phosphatase 1B isoform 1	285					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAGGGAAGTCGAGATAACATG	0.294													A	44436356	G	A	44436356	3	1	19	1	0	0	0	0	1	0	0	0	12336	1058	37	1	860	1	PPM1B	2	44436356	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	7639	44436356	198763017	338	14637											
PREPL	9581	broad.mit.edu	37	chr2	44550553	44550553	+	Splice_Site	DEL	A	A	-													aacatccaagaaaggtgcctAaaaaaaaggcaaagaaactt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:44550552_44550552TA>T	uc002ruf.3	-	11	2706	c.1747_splice	c.e11-1	p.A583_splice	PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	583					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAAAGGTGCCTAAAAAAAAGG	0.333													-	44550553	A	-	44550553	8	5	19	1	0	1	0	1	0	0	1	0	12475	377	13	0		0	PREPL	2	44550553	Splice_Site	DEL	A	TCGA-BR-4361-01A-01D-1158-08	114197	44550553	198648820	339	14638											
SIX3	6496	broad.mit.edu	37	chr2	45169356	45169356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcggcggcgggaacggtgCgggaggcggcggcggcgcgg	25	10	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:45169356C>T	uc002run.1	+	1	320	c.113C>T	c.(112-114)GCG>GTG	p.A38V		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	38	Poly-Gly.				visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				gggaacggtgcgggaggcggc	0.239													T	45169356	C	T	45169356	3	4	19	1	0	0	0	0	1	0	0	0	14348	768	27	1	115	1	SIX3	2	45169356	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	618803	45169356	198030017	340	14639											
PRKCE	5581	broad.mit.edu	37	chr2	46378314	46378314	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgagtccatcctccatgaCgacgtgctgtacccagtctg	9	13	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:46378314C>T	uc002rut.2	+	13	2063	c.1866C>T	c.(1864-1866)GAC>GAT	p.D622D		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	622	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			TCCTCCATGACGACGTGCTGT	0.587													T	46378314	C	T	46378314	2	4	19	1	0	0	0	0	0	0	0	1	12511	535	19	1		1	PRKCE	2	46378314	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1208958	46378314	196821059	341	14640											
EPAS1	2034	broad.mit.edu	37	chr2	46574037	46574037	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcggagaggaggaaggagAagtcccgggatgctgcgcgg	20	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:46574037A>G	uc002ruv.2	+	2	540	c.52A>G	c.(52-54)AAG>GAG	p.K18E		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	18	Basic motif.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GAGGAAGGAGAAGTCCCGGGA	0.592													G	46574037	A	G	46574037	3	3	19	1	0	0	0	0	1	0	0	0	5150	247	9	3	58	3	EPAS1	2	46574037	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	195723	46574037	196625336	342	14641											
MSH6	2956	broad.mit.edu	37	chr2	48026471	48026471	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcagtgaactggggctggTattcatgaaaggcaactggg	15	6	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:48026471T>C	uc002rwd.3	+	4	1501	c.1349T>C	c.(1348-1350)GTA>GCA	p.V450A	MSH6_uc002rwc.2_Missense_Mutation_p.V450A|MSH6_uc010fbj.2_Missense_Mutation_p.V148A|MSH6_uc010yoi.1_Missense_Mutation_p.V320A|MSH6_uc010yoj.1_Missense_Mutation_p.V148A	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	450					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTGGGGCTGGTATTCATGAAA	0.453			Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				C	48026471	T	C	48026471	3	2	19	1	0	0	0	0	1	0	0	0	9874	1638	57	3	1363	3	MSH6	2	48026471	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1452434	48026471	195172902	343	14642											
MSH6	2956	broad.mit.edu	37	chr2	48026560	48026560	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggtgcagaagggctataaaGtagcacgagtggaacagact	14	6	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:48026560G>C	uc002rwd.3	+	4	1590	c.1438G>C	c.(1438-1440)GTA>CTA	p.V480L	MSH6_uc002rwc.2_Missense_Mutation_p.V480L|MSH6_uc010fbj.2_Missense_Mutation_p.V178L|MSH6_uc010yoi.1_Missense_Mutation_p.V350L|MSH6_uc010yoj.1_Missense_Mutation_p.V178L	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	480					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.V480L(1)		large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGGCTATAAAGTAGCACGAGT	0.473			Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				C	48026560	G	C	48026560	3	2	19	1	0	0	0	0	1	0	0	0	9874	1029	36	5	1452	5	MSH6	2	48026560	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	89	48026560	195172813	344	14643											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48809378	48809378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgaagtctgtagtggttGtccagggagcatacgtggaa	14	7	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:48809378G>A	uc010yol.1	+	1	1653	c.1606G>A	c.(1606-1608)GTC>ATC	p.V536I	STON1_uc002rwo.3_Missense_Mutation_p.V536I|STON1_uc010fbm.2_Missense_Mutation_p.V536I|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.V536I|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.V536I	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	536					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGTAGTGGTTGTCCAGGGAGC	0.463													A	48809378	G	A	48809378	3	1	19	1	0	0	0	0	1	0	0	0	15316	1377	48	4	1608	4	STON1-GTF2A1L	2	48809378	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	782818	48809378	194389995	345	14644											
FSHR	2492	broad.mit.edu	37	chr2	49190590	49190590	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatagctgtcagagtgtagActgacagctcactggcaaag	12	8	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:49190590A>G	uc002rww.2	-	10	1444	c.1370T>C	c.(1369-1371)GTC>GCC	p.V457A	FSHR_uc002rwx.2_Missense_Mutation_p.V395A|FSHR_uc010fbn.2_Missense_Mutation_p.V431A	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	457	Helical; Name=3; (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CAGAGTGTAGACTGACAGCTC	0.522									Gonadal_Dysgenesis_46_XX				G	49190590	A	G	49190590	3	3	19	1	0	0	0	0	1	0	0	0	6073	275	10	3	721	3	FSHR	2	49190590	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	381212	49190590	194008783	346	14645											
PSME4	23198	broad.mit.edu	37	chr2	54115035	54115035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttttgtaaacctgggtgaGtttgggttccaagtacttca	10	6	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:54115035G>A	uc002rxp.2	-	39	4536	c.4480C>T	c.(4480-4482)CTC>TTC	p.L1494F	PSME4_uc010yop.1_Missense_Mutation_p.L1380F|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.L869F|PSME4_uc010fbv.1_Missense_Mutation_p.L638F|PSME4_uc010fbt.1_5'Flank	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1494					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACCTGGGTGAGTTTGGGTTCC	0.393													A	54115035	G	A	54115035	3	1	19	1	0	0	0	0	1	0	0	0	12709	1029	36	4	1083	4	PSME4	2	54115035	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	4924445	54115035	189084338	347	14646											
ACYP2	98	broad.mit.edu	37	chr2	54362601	54362601	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttatacaggtgtttgcttcAgaatggtaagtcagtacaat	9	5	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:54362601A>G	uc002rxq.3	+	2	496	c.70A>G	c.(70-72)AGA>GGA	p.R24G		NM_138448	NP_612457	P14621	ACYP2_HUMAN	acylphosphatase 2	24	Acylphosphatase-like.	Potential.			phosphate metabolic process		acylphosphatase activity				0						TGTTTGCTTCAGAATGGTAAG	0.318													G	54362601	A	G	54362601	3	3	19	1	0	0	0	0	1	0	0	0	229	180	7	3	76	3	ACYP2	2	54362601	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	247566	54362601	188836772	348	14647											
MTIF2	4528	broad.mit.edu	37	chr2	55464533	55464533	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttttttcttcccttctgtTacagagaaggtagctagtat	7	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:55464533T>C	uc002ryn.2	-	16	2639	c.1902A>G	c.(1900-1902)GTA>GTG	p.V634V	MTIF2_uc010yox.1_Silent_p.V303V|MTIF2_uc002ryo.2_Silent_p.V634V	NM_001005369	NP_001005369	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	634					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			ovary(1)	1						TCCCTTCTGTTACAGAGAAGG	0.358													C	55464533	T	C	55464533	2	2	19	1	0	0	0	0	0	0	0	1	9934	1741	61	3		3	MTIF2	2	55464533	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1101932	55464533	187734840	349	14648											
MTIF2	4528	broad.mit.edu	37	chr2	55481808	55481808	+	Frame_Shift_Del	DEL	T	T	-													accttcttacagcatctttaTtttttctgactttgtcctgt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:55481807_55481807AT>A	uc002ryn.3	-	6	1223	c.486_486AT>T	c.(484-486)aatfs	p.N162fs	MTIF2_uc010yox.2_5'UTR|MTIF2_uc002ryo.3_Frame_Shift_Del_p.N162fs	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	162					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CAGCATCTTTATTTTTTCTGA	0.343													-	55481808	T	-	55481808	7	5	19	1	0	1	0	1	0	0	0	0	9934	1493	52	0	1742	0	MTIF2	2	55481808	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	17275	55481808	187717565	350	14649											
CCDC88A	55704	broad.mit.edu	37	chr2	55535973	55535973	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttggtccccaaggtctgGccatcttctaaagagtttga	9	10	4	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:55535973G>A	uc002ryv.2	-	25	5198	c.4356C>T	c.(4354-4356)GGC>GGT	p.G1452G	CCDC88A_uc010yoz.1_Silent_p.G1453G|CCDC88A_uc010ypa.1_Silent_p.G1452G|CCDC88A_uc010fbw.2_Silent_p.G76G|CCDC88A_uc002ryu.2_Silent_p.G735G|CCDC88A_uc002rys.2_Silent_p.G438G|CCDC88A_uc002ryw.2_Silent_p.G736G|CCDC88A_uc010fby.1_Silent_p.G332G	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	1453					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						CCAAGGTCTGGCCATCTTCTA	0.403													A	55535973	G	A	55535973	2	1	19	1	0	0	0	0	0	0	0	1	2863	1190	42	2		2	CCDC88A	2	55535973	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	54165	55535973	187663400	351	14650											
CCDC88A	55704	broad.mit.edu	37	chr2	55570930	55570930	+	Splice_Site	DEL	T	T	-													ttctatccatatctcgttccTtttttattggcaaggattag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:55570929_55570929CT>C	uc002ryv.2	-	12	2031	c.1189_splice	c.e12-1	p.E397_splice	CCDC88A_uc010ypa.1_Splice_Site_p.E397_splice|CCDC88A_uc010yoz.1_Splice_Site_p.E397_splice|CCDC88A_uc010ypb.1_Splice_Site_p.E299_splice	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	397					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TATCTCGTTCCTTTTTTATTG	0.303													-	55570930	T	-	55570930	8	5	19	1	0	1	0	1	0	0	1	0	2863	1623	56	0	4512	0	CCDC88A	2	55570930	Splice_Site	DEL	T	TCGA-BR-4361-01A-01D-1158-08	34957	55570930	187628443	352	14651											
CCDC88A	55704	broad.mit.edu	37	chr2	55589575	55589575	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaacacattttcctgatTatgagttacctttagaaaag	6	7	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:55589575T>C	uc002ryv.2	-	7	1338	c.496A>G	c.(496-498)AAT>GAT	p.N166D	CCDC88A_uc010yoz.1_Missense_Mutation_p.N166D|CCDC88A_uc010ypa.1_Missense_Mutation_p.N166D|CCDC88A_uc010ypb.1_Missense_Mutation_p.N68D	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	166					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						TTTTCCTGATTATGAGTTACC	0.333													C	55589575	T	C	55589575	3	2	19	1	0	0	0	0	1	0	0	0	2863	1754	61	3	5223	3	CCDC88A	2	55589575	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	18645	55589575	187609798	353	14652											
BCL11A	53335	broad.mit.edu	37	chr2	60688807	60688807	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgctggcctgggtgcAcgcgtggtcgcacaggttgc	16	12	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:60688807A>G	uc002sae.1	-	4	1468	c.1240T>C	c.(1240-1242)TGC>CGC	p.C414R	BCL11A_uc002sab.2_Missense_Mutation_p.C414R|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.C83R|BCL11A_uc010ypj.1_Missense_Mutation_p.C380R|BCL11A_uc002sad.1_Missense_Mutation_p.C262R|BCL11A_uc002saf.1_Missense_Mutation_p.C380R	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	414	C2H2-type 3.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GCCTGGGTGCACGCGTGGTCG	0.612			T	IGH@	B-CLL								G	60688807	A	G	60688807	3	3	19	1	0	0	0	0	1	0	0	0	1363	159	6	3	1377	3	BCL11A	2	60688807	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	5099232	60688807	182510566	354	14653											
PAPOLG	64895	broad.mit.edu	37	chr2	61020810	61020810	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggagaagccactgagtgtAccaccagcccaaggactttc	11	12	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:61020810A>G	uc002sai.2	+	18	1959	c.1728A>G	c.(1726-1728)GTA>GTG	p.V576V	PAPOLG_uc002saj.2_Silent_p.V265V|PAPOLG_uc002sak.2_Silent_p.V111V|PAPOLG_uc010fch.2_Silent_p.V265V	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	576					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			CACTGAGTGTACCACCAGCCC	0.303													G	61020810	A	G	61020810	2	3	19	1	0	0	0	0	0	0	0	1	11431	378	14	3		3	PAPOLG	2	61020810	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	332003	61020810	182178563	355	14654											
USP34	9736	broad.mit.edu	37	chr2	61455842	61455842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatatagcttgcaatgaaaGcaaaaattggctctaaacaa	7	6	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:61455842G>A	uc002sbe.2	-	61	7403	c.7381C>T	c.(7381-7383)CTT>TTT	p.L2461F	USP34_uc002sbf.2_Missense_Mutation_p.L611F	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2461					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			TGCAATGAAAGCAAAAATTGG	0.274													A	61455842	G	A	61455842	3	1	19	1	0	0	0	0	1	0	0	0	17062	971	34	2	3339	2	USP34	2	61455842	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	435032	61455842	181743531	356	14655											
TMEM17	200728	broad.mit.edu	37	chr2	62729571	62729571	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaggaaaaaagagcttaCcttctcctgtaggttaccca	8	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:62729571C>T	uc002sbt.2	-	3	658	c.318_splice	c.e3+1	p.K106_splice	TMEM17_uc002sbu.2_Missense_Mutation_p.V107I|TMEM17_uc002sbv.1_Missense_Mutation_p.V82I	NM_198276	NP_938017	Q86X19	TMM17_HUMAN	transmembrane protein 17							integral to membrane					0	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			AAAGAGCTTACCTTCTCCTGT	0.294													T	62729571	C	T	62729571	5	4	19	1	0	0	0	0	0	0	1	0	16082	521	18	4	285	4	TMEM17	2	62729571	Splice_Site	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1273729	62729571	180469802	357	14656											
OTX1	5013	broad.mit.edu	37	chr2	63281286	63281286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctaccctgacatcttcatgCgggaggaggtggcgctcaag	14	11	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:63281286C>T	uc002scd.2	+	4	450	c.202C>T	c.(202-204)CGG>TGG	p.R68W	OTX1_uc010ypt.1_Missense_Mutation_p.R2W	NM_014562	NP_055377	P32242	OTX1_HUMAN	orthodenticle homeobox 1	68	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(2)	2	Lung NSC(7;0.121)|all_lung(7;0.211)					CATCTTCATGCGGGAGGAGGT	0.662													T	63281286	C	T	63281286	3	4	19	1	0	0	0	0	1	0	0	0	11320	759	27	1	208	1	OTX1	2	63281286	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	551715	63281286	179918087	358	14657											
CEP68	23177	broad.mit.edu	37	chr2	65299970	65299970	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggggagcagccaggccctCggggtctcctctggactgct	15	14	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:65299970C>T	uc002sdl.3	+	3	1954	c.1740C>T	c.(1738-1740)CTC>CTT	p.L580L	CEP68_uc002sdj.2_Silent_p.L580L|CEP68_uc010yqb.1_Silent_p.L580L|CEP68_uc002sdk.3_Intron|CEP68_uc010yqc.1_Silent_p.L580L|CEP68_uc010yqd.1_Silent_p.L580L	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	580					centrosome organization	centrosome				skin(1)	1						GCCAGGCCCTCGGGGTCTCCT	0.632													T	65299970	C	T	65299970	2	4	19	1	0	0	0	0	0	0	0	1	3258	871	31	1		1	CEP68	2	65299970	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2018684	65299970	177899403	359	14658											
ACTR2	10097	broad.mit.edu	37	chr2	65495711	65495711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttagaaatttaagatccGcattgaagacccaccccgca	6	13	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:65495711G>A	uc002sdq.2	+	9	1243	c.1028G>A	c.(1027-1029)CGC>CAC	p.R343H	ACTR2_uc002sdp.2_Missense_Mutation_p.R348H|ACTR2_uc010yqg.1_Missense_Mutation_p.R291H	NM_005722	NP_005713	P61160	ARP2_HUMAN	actin-related protein 2 isoform b	343					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding				0						TTTAAGATCCGCATTGAAGAC	0.308													A	65495711	G	A	65495711	3	1	19	1	0	0	0	0	1	0	0	0	211	1087	38	1	1081	1	ACTR2	2	65495711	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	195741	65495711	177703662	360	14659											
C2orf42	54980	broad.mit.edu	37	chr2	70406777	70406777	+	Splice_Site	DEL	A	A	-													caataatctctttaagacctAaaaaaaagaagatttctgaa							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:70406776_70406776TA>T	uc002sgh.3	-	4	1152	c.824_splice	c.e4-1	p.G275_splice		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	275										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CTTTAAGACCTAAAAAAAAGA	0.353													-	70406777	A	-	70406777	8	5	19	1	0	1	0	1	0	0	1	0	2166	377	13	0		0	C2orf42	2	70406777	Splice_Site	DEL	A	TCGA-BR-4361-01A-01D-1158-08	4911066	70406777	172792596	361	14660											
MCEE	84693	broad.mit.edu	37	chr2	71351415	71351415	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gactgtcacgtcccaatggaTgaagcagttccatcttggta	10	10	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:71351415T>A	uc002shs.2	-	2	344	c.299A>T	c.(298-300)CAT>CTT	p.H100L		NM_032601	NP_115990	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase precursor	100					fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity			ovary(1)	1						TCCCAATGGATGAAGCAGTTC	0.438													A	71351415	T	A	71351415	3	1	19	1	0	0	0	0	1	0	0	0	9377	1464	51	5	239	5	MCEE	2	71351415	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	944638	71351415	171847958	362	14661											
DYSF	8291	broad.mit.edu	37	chr2	71742841	71742841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcagggcagaccaagcGgacgcggatccacaagggaa	15	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:71742841G>A	uc002sie.2	+	7	1128	c.752G>A	c.(751-753)CGG>CAG	p.R251Q	DYSF_uc010feg.2_Missense_Mutation_p.R282Q|DYSF_uc010feh.2_Missense_Mutation_p.R251Q|DYSF_uc002sig.3_Missense_Mutation_p.R251Q|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R251Q|DYSF_uc010fef.2_Missense_Mutation_p.R282Q|DYSF_uc010fei.2_Missense_Mutation_p.R282Q|DYSF_uc010fek.2_Missense_Mutation_p.R283Q|DYSF_uc010fej.2_Missense_Mutation_p.R252Q|DYSF_uc010fel.2_Missense_Mutation_p.R252Q|DYSF_uc010feo.2_Missense_Mutation_p.R283Q|DYSF_uc010fem.2_Missense_Mutation_p.R252Q|DYSF_uc010fen.2_Missense_Mutation_p.R283Q|DYSF_uc002sif.2_Missense_Mutation_p.R252Q	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	251	Cytoplasmic (Potential).|C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CAGACCAAGCGGACGCGGATC	0.607													A	71742841	G	A	71742841	3	1	19	1	0	0	0	0	1	0	0	0	4859	1116	39	1	970	1	DYSF	2	71742841	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	391426	71742841	171456532	363	14662											
DYSF	8291	broad.mit.edu	37	chr2	71743355	71743355	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcctggggagctgtttgatGagcccatctttatcacggta	11	10	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:71743355G>T	uc002sie.2	+	8	1214	c.838G>T	c.(838-840)GAG>TAG	p.E280*	DYSF_uc010feg.2_Nonsense_Mutation_p.E311*|DYSF_uc010feh.2_Nonsense_Mutation_p.E280*|DYSF_uc002sig.3_Nonsense_Mutation_p.E280*|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Nonsense_Mutation_p.E280*|DYSF_uc010fef.2_Nonsense_Mutation_p.E311*|DYSF_uc010fei.2_Nonsense_Mutation_p.E311*|DYSF_uc010fek.2_Nonsense_Mutation_p.E312*|DYSF_uc010fej.2_Nonsense_Mutation_p.E281*|DYSF_uc010fel.2_Nonsense_Mutation_p.E281*|DYSF_uc010feo.2_Nonsense_Mutation_p.E312*|DYSF_uc010fem.2_Nonsense_Mutation_p.E281*|DYSF_uc010fen.2_Nonsense_Mutation_p.E312*|DYSF_uc002sif.2_Nonsense_Mutation_p.E281*	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	280	Cytoplasmic (Potential).|C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GCTGTTTGATGAGCCCATCTT	0.453													T	71743355	G	T	71743355	4	4	19	1	0	0	0	0	0	1	0	0	4859	1291	45	5	1060	5	DYSF	2	71743355	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	514	71743355	171456018	364	14663											
EXOC6B	23233	broad.mit.edu	37	chr2	72719508	72719508	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagagttgctcagagtcctgGttagcaacaggtttgttgat	13	6	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:72719508G>C	uc010fep.2	-	16	1742	c.1604C>G	c.(1603-1605)ACC>AGC	p.T535S	EXOC6B_uc002sij.2_Missense_Mutation_p.T535S	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	SEC15-like 2	535					protein transport|vesicle docking involved in exocytosis	exocyst				central_nervous_system(2)	2						CAGAGTCCTGGTTAGCAACAG	0.413													C	72719508	G	C	72719508	3	2	19	1	0	0	0	0	1	0	0	0	5309	1261	44	5	859	5	EXOC6B	2	72719508	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	976153	72719508	170479865	365	14664											
SPR	6697	broad.mit.edu	37	chr2	73115582	73115582	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcccggacagtcctggcctCaacagaaccgtggttaacat	9	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:73115582C>A	uc002sik.2	+	2	494	c.444C>A	c.(442-444)CTC>CTA	p.L148L		NM_003124	NP_003115	P35270	SPRE_HUMAN	sepiapterin reductase	148					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity			ovary(2)	2						GTCCTGGCCTCAACAGAACCG	0.557											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	73115582	C	A	73115582	2	1	19	1	0	0	0	0	0	0	0	1	15090	813	29	5		5	SPR	2	73115582	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	396074	73115582	170083791	366	14665											
EMX1	2016	broad.mit.edu	37	chr2	73151580	73151580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactacgtggtgggcgccgaGcggaagcagctggccggcag	18	12	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:73151580G>A	uc002sin.1	+	2	1041	c.663G>A	c.(661-663)GAG>GAA	p.E221E	EMX1_uc002sim.1_Missense_Mutation_p.A174T	NM_004097	NP_004088	Q04741	EMX1_HUMAN	empty spiracles homolog 1	188	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TGGGCGCCGAGCGGAAGCAGC	0.711													A	73151580	G	A	73151580	2	1	19	1	0	0	0	0	0	0	0	1	5107	962	34	2		2	EMX1	2	73151580	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	35998	73151580	170047793	367	14666											
EGR4	1961	broad.mit.edu	37	chr2	73519506	73519506	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaggccgggcttgacgtcGggcggggagagctgaggctc	21	10	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:73519506G>A	uc010yrj.1	-	2	924	c.849C>T	c.(847-849)CCC>CCT	p.P283P	EGR4_uc010yrk.1_Silent_p.P282P	NM_001965	NP_001956	Q05215	EGR4_HUMAN	early growth response 4	179						intracellular	nucleic acid binding|zinc ion binding				0						GCTTGACGTCGGGCGGGGAGA	0.711													A	73519506	G	A	73519506	2	1	19	1	0	0	0	0	0	0	0	1	4974	1103	39	1		1	EGR4	2	73519506	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	367926	73519506	169679867	368	14667											
EGR4	1961	broad.mit.edu	37	chr2	73519605	73519605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggggcagcgcccagatcCggggagtaaaggtccggcgg	18	10	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:73519605C>T	uc010yrj.1	-	2	825	c.750G>A	c.(748-750)CCG>CCA	p.P250P	EGR4_uc010yrk.1_Silent_p.P249P	NM_001965	NP_001956	Q05215	EGR4_HUMAN	early growth response 4	146						intracellular	nucleic acid binding|zinc ion binding				0						CGCCCAGATCCGGGGAGTAAA	0.701													T	73519605	C	T	73519605	2	4	19	1	0	0	0	0	0	0	0	1	4974	639	23	1		1	EGR4	2	73519605	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	99	73519605	169679768	369	14668											
ACTG2	72	broad.mit.edu	37	chr2	74135805	74135805	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtctccactagatctgGcaccactccttctacaatga	5	13	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:74135805G>A	uc002sjw.2	+	4	383	c.261G>A	c.(259-261)TGG>TGA	p.W87*	ACTG2_uc010fey.2_Nonsense_Mutation_p.W87*|ACTG2_uc010yrn.1_Nonsense_Mutation_p.W44*	NM_001615	NP_001606	P63267	ACTH_HUMAN	actin, gamma 2 propeptide	87					muscle contraction	cytoskeleton|cytosol	ATP binding				0						ACTAGATCTGGCACCACTCCT	0.522													A	74135805	G	A	74135805	4	1	19	1	0	0	0	0	0	1	0	0	197	1212	42	2	271	2	ACTG2	2	74135805	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	616200	74135805	169063568	370	14669											
TET3	200424	broad.mit.edu	37	chr2	74273760	74273760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaacaacagcaggggacCccggccagggcctgagggct	17	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:74273760C>T	uc002skb.3	+	1	311	c.311C>T	c.(310-312)CCC>CTC	p.P104L	TET3_uc010fez.1_Missense_Mutation_p.P104L	NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	104							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						AGCAGGGGACCCCGGCCAGGG	0.627													T	74273760	C	T	74273760	3	4	19	1	0	0	0	0	1	0	0	0	15768	623	22	4	313	4	TET3	2	74273760	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	137955	74273760	168925613	371	14670											
DCTN1	1639	broad.mit.edu	37	chr2	74597120	74597120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagtctccctcaactcgCgcactttctcttccagattc	4	18	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:74597120C>T	uc002skx.2	-	13	1675	c.1364G>A	c.(1363-1365)CGC>CAC	p.R455H	DCTN1_uc002skv.2_Missense_Mutation_p.R321H|DCTN1_uc002sku.2_Missense_Mutation_p.R321H|DCTN1_uc002skw.1_Missense_Mutation_p.R431H|DCTN1_uc010ffd.2_Missense_Mutation_p.R435H|DCTN1_uc002sky.2_Missense_Mutation_p.R418H	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	455	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						CCTCAACTCGCGCACTTTCTC	0.537													T	74597120	C	T	74597120	3	4	19	1	0	0	0	0	1	0	0	0	4306	768	27	1	2552	1	DCTN1	2	74597120	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	323360	74597120	168602253	372	14671											
AUP1	550	broad.mit.edu	37	chr2	74754443	74754443	+	Frame_Shift_Del	DEL	C	C	-													ttcaggcatgaaagctacggCcccctcaagcagattagtga							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:74754443delC	uc010yrx.1	-	9	1306	c.1180delG	c.(1180-1182)GCCfs	p.A394fs	DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_Frame_Shift_Del_p.A70fs|AUP1_uc002smf.2_Frame_Shift_Del_p.A337fs|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Frame_Shift_Del_p.A246fs|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank			Q9Y679	AUP1_HUMAN	SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA;	403	Cytoplasmic (Potential).|CUE.					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding				0						AAAGCTACGGCCCCCTCAAGC	0.512													-	74754443	C	-	74754443	7	5	19	1	0	1	0	1	0	0	0	0	1220	739	26	0	235	0	AUP1	2	74754443	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	157323	74754443	168444930	373	14672											
SEMA4F	10505	broad.mit.edu	37	chr2	74902879	74902879	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactccgtttttatagagcTggctcctggttggctcccgt	10	13	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:74902879T>C	uc002sna.1	+	12	1597	c.1486T>C	c.(1486-1488)TGG>CGG	p.W496R	SEMA4F_uc010ffq.1_Missense_Mutation_p.W463R|SEMA4F_uc010ffr.1_Missense_Mutation_p.W108R|SEMA4F_uc002snb.1_Missense_Mutation_p.W108R|SEMA4F_uc002snc.1_Missense_Mutation_p.W341R	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	496	Sema.|Extracellular (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4						TTTATAGAGCTGGCTCCTGGT	0.552													C	74902879	T	C	74902879	3	2	19	1	0	0	0	0	1	0	0	0	14035	1580	55	3	1532	3	SEMA4F	2	74902879	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	148436	74902879	168296494	374	14673											
MRPL19	9801	broad.mit.edu	37	chr2	75882354	75882354	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatatgatgagggaatatgaTacttcaaaaattgaagctgc	10	4	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:75882354T>C	uc002snl.2	+	6	847	c.822T>C	c.(820-822)GAT>GAC	p.D274D	MRPL19_uc002snm.1_Silent_p.D274D	NM_014763	NP_055578	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19 precursor	274					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome				0						GGGAATATGATACTTCAAAAA	0.363													C	75882354	T	C	75882354	2	2	19	1	0	0	0	0	0	0	0	1	9784	1403	49	3		3	MRPL19	2	75882354	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	979475	75882354	167317019	375	14674											
LRRTM1	347730	broad.mit.edu	37	chr2	80529785	80529785	+	Frame_Shift_Del	DEL	G	G	-													gcgtggtggccgagctggcaGggggccccagatcactgcgg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:80529785delG	uc002sok.1	-	2	1430	c.1160delC	c.(1159-1161)CCTfs	p.P387fs	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	387	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						CGAGCTGGCAGGGGGCCCCAG	0.726										HNSCC(69;0.2)			-	80529785	G	-	80529785	7	5	19	1	0	1	0	1	0	0	0	0	9039	1000	35	0	412	0	LRRTM1	2	80529785	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	4647431	80529785	162669588	376	14675											
LRRTM1	347730	broad.mit.edu	37	chr2	80530382	80530382	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtatccgatgtcgagaaacTtgaggctgcggcagtcctgg	14	9	0	2	rs151115994		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:80530382T>G	uc002sok.1	-	2	833	c.563A>C	c.(562-564)AAG>ACG	p.K188T	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	188	LRR 5.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GTCGAGAAACTTGAGGCTGCG	0.587										HNSCC(69;0.2)			G	80530382	T	G	80530382	3	3	19	1	0	0	0	0	1	0	0	0	9039	1609	56	5	1009	5	LRRTM1	2	80530382	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	597	80530382	162668991	377	14676											
POLR1A	25885	broad.mit.edu	37	chr2	86269169	86269169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtcaggacaagcggccgCcttcttctggtatttccttc	12	12	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:86269169C>T	uc002sqs.2	-	24	3794	c.3415G>A	c.(3415-3417)GCG>ACG	p.A1139T	POLR1A_uc010ytb.1_Missense_Mutation_p.A505T|POLR1A_uc002sqt.1_Missense_Mutation_p.A162T	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1139					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						CAAGCGGCCGCCTTCTTCTGG	0.493													T	86269169	C	T	86269169	3	4	19	1	0	0	0	0	1	0	0	0	12209	739	26	2	1791	2	POLR1A	2	86269169	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	5738787	86269169	156930204	378	14677											
IMMT	10989	broad.mit.edu	37	chr2	86386722	86386722	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccctctgcagcagttatAtgaggcttggccccagcaac	9	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:86386722A>G	uc002sqz.3	-	9	1357	c.969T>C	c.(967-969)CAT>CAC	p.H323H	IMMT_uc002sqy.3_Silent_p.H64H|IMMT_uc002srb.3_Silent_p.H312H|IMMT_uc002sra.3_Silent_p.H322H|IMMT_uc010ytd.1_Silent_p.H311H|IMMT_uc010yte.1_Silent_p.H276H|IMMT_uc002src.1_Silent_p.H64H|IMMT_uc002srd.2_Silent_p.H323H|IMMT_uc002sre.3_Silent_p.H311H|IMMT_uc010ytf.1_Silent_p.H245H|IMMT_uc010fgs.1_Silent_p.H320H	NM_006839	NP_006830	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial isoform 1	323	Mitochondrial intermembrane (Potential).					integral to mitochondrial inner membrane	protein binding			skin(1)	1						CAGCAGTTATATGAGGCTTGG	0.338													G	86386722	A	G	86386722	2	3	19	1	0	0	0	0	0	0	0	1	7718	446	16	3		3	IMMT	2	86386722	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	117553	86386722	156812651	379	14678											
CD8A	925	broad.mit.edu	37	chr2	87017544	87017544	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcgttctctcggcggaagtCgctcagggtgaggacgaagg	16	10	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:87017544C>A	uc002srt.2	-	2	1199	c.310G>T	c.(310-312)GAC>TAC	p.D104Y	RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.D104Y|CD8A_uc010ytn.1_Missense_Mutation_p.D145Y|CD8A_uc002sru.2_Missense_Mutation_p.D104Y	NM_001768	NP_001759	P01732	CD8A_HUMAN	CD8 antigen alpha polypeptide isoform 1	104	Ig-like V-type.|Extracellular (Potential).				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	p.D104N(1)		ovary(1)	1						CGGCGGAAGTCGCTCAGGGTG	0.617													A	87017544	C	A	87017544	3	1	19	1	0	0	0	0	1	0	0	0	3044	884	31	5	417	5	CD8A	2	87017544	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	630822	87017544	156181829	380	14679											
SMYD1	150572	broad.mit.edu	37	chr2	88405999	88405999	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tatgccaggaggatggtggaCggctatatgtaggtgacgat	16	5	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:88405999C>G	uc002ssr.2	+	8	1139	c.1137C>G	c.(1135-1137)GAC>GAG	p.D379E	SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Missense_Mutation_p.D75E	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						GGATGGTGGACGGCTATATGT	0.408													G	88405999	C	G	88405999	3	3	19	1	0	0	0	0	1	0	0	0	14821	535	19	5	1167	5	SMYD1	2	88405999	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1388455	88405999	154793374	381	14680											
THNSL2	55258	broad.mit.edu	37	chr2	88474836	88474836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagaacatggacattatcGttctgctgcccaaaggtcac	8	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:88474836G>A	uc002ssz.3	+	4	640	c.487G>A	c.(487-489)GTT>ATT	p.V163I	THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_Missense_Mutation_p.V163I|THNSL2_uc002ssx.3_Missense_Mutation_p.V131I|THNSL2_uc002sta.3_Missense_Mutation_p.V5I|THNSL2_uc002ssy.3_Missense_Mutation_p.V163I|THNSL2_uc010fhe.2_Missense_Mutation_p.V5I	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2	163					threonine biosynthetic process		threonine synthase activity			ovary(1)	1						GGACATTATCGTTCTGCTGCC	0.512													A	88474836	G	A	88474836	3	1	19	1	0	0	0	0	1	0	0	0	15860	1145	40	1	497	1	THNSL2	2	88474836	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	68837	88474836	154724537	382	14681											
THNSL2	55258	broad.mit.edu	37	chr2	88478470	88478470	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgtacgccatccttggAcacacatcccctacccctgg	7	18	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:88478470A>T	uc002ssz.3	+	5	893	c.740A>T	c.(739-741)GAC>GTC	p.D247V	THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_Missense_Mutation_p.D247V|THNSL2_uc002ssx.3_Missense_Mutation_p.D215V|THNSL2_uc002sta.3_Missense_Mutation_p.D89V|THNSL2_uc002ssy.3_Missense_Mutation_p.D247V|THNSL2_uc010fhe.2_Missense_Mutation_p.D89V	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2	247					threonine biosynthetic process		threonine synthase activity			ovary(1)	1						CCATCCTTGGACACACATCCC	0.552													T	88478470	A	T	88478470	3	4	19	1	0	0	0	0	1	0	0	0	15860	275	10	5	754	5	THNSL2	2	88478470	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3634	88478470	154720903	383	14682											
TEKT4	150483	broad.mit.edu	37	chr2	95541412	95541412	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacaaagaggcacctctgcAcgtagcccagacccggctgt	12	14	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:95541412A>G	uc002stw.1	+	5	1109	c.1016A>G	c.(1015-1017)CAC>CGC	p.H339R	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	339					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3						GCACCTCTGCACGTAGCCCAG	0.617													G	95541412	A	G	95541412	3	3	19	1	0	0	0	0	1	0	0	0	15752	159	6	3	1034	3	TEKT4	2	95541412	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	7062942	95541412	147657961	384	14683											
FAHD2A	51011	broad.mit.edu	37	chr2	96072863	96072863	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcaagtttgccagctccatCgtggggccctatgatgaggt	13	10	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:96072863C>T	uc002sur.2	+	3	599	c.420C>T	c.(418-420)ATC>ATT	p.I140I	FAHD2A_uc002sus.2_Silent_p.I140I	NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing	140							hydrolase activity|metal ion binding			ovary(1)	1						CCAGCTCCATCGTGGGGCCCT	0.577													T	96072863	C	T	96072863	2	4	19	1	0	0	0	0	0	0	0	1	5373	874	31	1		1	FAHD2A	2	96072863	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	531451	96072863	147126510	385	14684											
ASTL	431705	broad.mit.edu	37	chr2	96789628	96789628	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaatgatttctaggtacAcagccccctggcagagctgg	11	10	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:96789628A>G	uc010yui.1	-	9	1257	c.1257T>C	c.(1255-1257)TGT>TGC	p.C419C		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	419					proteolysis		metalloendopeptidase activity|zinc ion binding				0						TTCTAGGTACACAGCCCCCTG	0.592													G	96789628	A	G	96789628	2	3	19	1	0	0	0	0	0	0	0	1	1063	157	6	3		3	ASTL	2	96789628	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	716765	96789628	146409745	386	14685											
ASTL	431705	broad.mit.edu	37	chr2	96803388	96803388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggccatctgggaagctgGtaccacaggctcctgcgcag	14	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:96803388G>A	uc010yui.1	-	2	107	c.107C>T	c.(106-108)ACC>ATC	p.T36I		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	36					proteolysis		metalloendopeptidase activity|zinc ion binding				0						TGGGAAGCTGGTACCACAGGC	0.622													A	96803388	G	A	96803388	3	1	19	1	0	0	0	0	1	0	0	0	1063	1261	44	4	1219	4	ASTL	2	96803388	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	13760	96803388	146395985	387	14686											
DUSP2	1844	broad.mit.edu	37	chr2	96810096	96810096	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaacaggtagggcaagAtctccacagggccaccctgg	13	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:96810096A>G	uc002svk.3	-	3	613	c.527T>C	c.(526-528)ATC>ACC	p.I176T		NM_004418	NP_004409	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	176					endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			breast(1)	1		Ovarian(717;0.0228)				GTAGGGCAAGATCTCCACAGG	0.672													G	96810096	A	G	96810096	3	3	19	1	0	0	0	0	1	0	0	0	4819	333	12	3	425	3	DUSP2	2	96810096	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	6708	96810096	146389277	388	14687											
NCAPH	23397	broad.mit.edu	37	chr2	97024802	97024802	+	Frame_Shift_Del	DEL	G	G	-													gggaagaaatgatttcccttGgggatggagacatcaggacc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:97024802delG	uc002svz.1	+	10	1312	c.1228delG	c.(1228-1230)GGGfs	p.G410fs	NCAPH_uc010fhu.1_Frame_Shift_Del_p.G386fs|NCAPH_uc010fhv.1_Frame_Shift_Del_p.G399fs|NCAPH_uc010yum.1_Frame_Shift_Del_p.G386fs|NCAPH_uc010fhw.1_Frame_Shift_Del_p.G399fs|NCAPH_uc010yun.1_Frame_Shift_Del_p.G274fs|NCAPH_uc002swa.1_Frame_Shift_Del_p.G5fs	NM_015341	NP_056156	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	410					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)|skin(1)	2		Ovarian(717;0.0221)				GATTTCCCTTGGGGATGGAGA	0.423													-	97024802	G	-	97024802	7	5	19	1	0	1	0	1	0	0	0	0	10209	1348	47	0	1266	0	NCAPH	2	97024802	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	214706	97024802	146174571	389	14688											
ARID5A	10865	broad.mit.edu	37	chr2	97217936	97217936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgcacttccccccaacGtccttcgacagtgccctccg	7	19	0	1	rs138653819		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:97217936G>A	uc002swe.2	+	7	1771	c.1671G>A	c.(1669-1671)ACG>ACA	p.T557T	ARID5A_uc010yuq.1_Silent_p.T505T|ARID5A_uc002swf.2_Silent_p.T393T|ARID5A_uc002swg.2_Silent_p.T505T	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A	557					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding				0						TCCCCCCAACGTCCTTCGACA	0.672													A	97217936	G	A	97217936	2	1	19	1	0	0	0	0	0	0	0	1	921	1132	40	1		1	ARID5A	2	97217936	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	193134	97217936	145981437	390	14689											
FER1L5	90342	broad.mit.edu	37	chr2	97369324	97369324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttaatcaagccagccgggcGaggccagtcggaacccaacc	11	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:97369324G>A	uc010fia.2	+	50	5864	c.5864G>A	c.(5863-5865)CGA>CAA	p.R1955Q	FER1L5_uc002sws.3_Missense_Mutation_p.R664Q|FER1L5_uc002swt.3_Missense_Mutation_p.R664Q|FER1L5_uc010yus.1_Missense_Mutation_p.R663Q	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	1955						integral to membrane				ovary(1)	1						CCAGCCGGGCGAGGCCAGTCG	0.562													A	97369324	G	A	97369324	3	1	19	1	0	0	0	0	1	0	0	0	5814	1058	37	1	6062	1	FER1L5	2	97369324	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	151388	97369324	145830049	391	14690											
FAM178B	51252	broad.mit.edu	37	chr2	97543757	97543757	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtggcggtccaactgcAtgcacagcagctgcagctcg	13	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:97543757A>G	uc002sxl.3	-	16	2128	c.1781T>C	c.(1780-1782)ATG>ACG	p.M594T	FAM178B_uc002sxi.3_Missense_Mutation_p.M85T|FAM178B_uc002sxk.3_Missense_Mutation_p.M309T|FAM178B_uc002sxj.3_Missense_Mutation_p.M66T	NM_001122646	NP_001116118	Q8IXR5	F178B_HUMAN	hypothetical protein LOC51252 isoform A	774											0						GTCCAACTGCATGCACAGCAG	0.632													G	97543757	A	G	97543757	3	3	19	1	0	0	0	0	1	0	0	0	5504	217	8	3	170	3	FAM178B	2	97543757	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	174433	97543757	145655616	392	14691											
CNGA3	1261	broad.mit.edu	37	chr2	98994199	98994199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgctgcagccggggatcGccatggagaccagaggactg	16	11	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:98994199G>A	uc002syt.2	+	3	568	c.151G>A	c.(151-153)GCC>ACC	p.A51T	CNGA3_uc002syu.2_Missense_Mutation_p.A51T|CNGA3_uc010fij.2_5'UTR	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	51					signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						GCCGGGGATCGCCATGGAGAC	0.587													A	98994199	G	A	98994199	3	1	19	1	0	0	0	0	1	0	0	0	3598	1087	38	1	157	1	CNGA3	2	98994199	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1450442	98994199	144205174	393	14692											
C2orf55	343990	broad.mit.edu	37	chr2	99411026	99411026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggggcatgtcactccaaGcttgagatttctttctggca	10	10	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:99411026G>A	uc002szf.1	-	10	3152	c.2858C>T	c.(2857-2859)GCT>GTT	p.A953V		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	953											0						GTCACTCCAAGCTTGAGATTT	0.463													A	99411026	G	A	99411026	3	1	19	1	0	0	0	0	1	0	0	0	2176	971	34	2	34	2	C2orf55	2	99411026	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	416827	99411026	143788347	394	14693											
NPAS2	4862	broad.mit.edu	37	chr2	101591324	101591324	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acactcgacgtgggtgcctcGggccttaataccagtcattc	10	13	1	0	rs144494121		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:101591324G>T	uc002tap.1	+	13	1486	c.1200G>T	c.(1198-1200)TCG>TCT	p.S400S	NPAS2_uc010yvt.1_Silent_p.S465S|NPAS2_uc010fit.1_5'UTR	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	400					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4						TGGGTGCCTCGGGCCTTAATA	0.542													T	101591324	G	T	101591324	2	4	19	1	0	0	0	0	0	0	0	1	10563	1103	39	5		5	NPAS2	2	101591324	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2180298	101591324	141608049	395	14694											
IL1R1	3554	broad.mit.edu	37	chr2	102781763	102781763	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctaaattacagtggtataAggtaattttattttaaatat	5	3	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:102781763A>G	uc002tbq.2	+	5	803	c.485A>G	c.(484-486)AAG>AGG	p.K162R	IL1R1_uc010fix.2_Missense_Mutation_p.K162R|IL1R1_uc002tbp.2_Missense_Mutation_p.K162R|IL1R1_uc002tbr.2_Missense_Mutation_p.K162R	NM_000877	NP_000868	P14778	IL1R1_HUMAN	interleukin 1 receptor, type I precursor	162	Extracellular (Potential).|Ig-like C2-type 2.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			skin(1)	1					Anakinra(DB00026)	CAGTGGTATAAGGTAATTTTA	0.308													G	102781763	A	G	102781763	3	3	19	1	0	0	0	0	1	0	0	0	7658	86	3	3	495	3	IL1R1	2	102781763	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1190439	102781763	140417610	396	14695											
IL1R1	3554	broad.mit.edu	37	chr2	102782603	102782603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctacttcttgacaatataCactttagtggagtcaaagat	6	8	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:102782603C>T	uc002tbq.2	+	6	835	c.517C>T	c.(517-519)CAC>TAC	p.H173Y	IL1R1_uc010fix.2_Missense_Mutation_p.H173Y|IL1R1_uc002tbp.2_Missense_Mutation_p.H173Y|IL1R1_uc002tbr.2_Missense_Mutation_p.H173Y	NM_000877	NP_000868	P14778	IL1R1_HUMAN	interleukin 1 receptor, type I precursor	173	Extracellular (Potential).|Ig-like C2-type 2.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			skin(1)	1					Anakinra(DB00026)	TGACAATATACACTTTAGTGG	0.413													T	102782603	C	T	102782603	3	4	19	1	0	0	0	0	1	0	0	0	7658	478	17	4	531	4	IL1R1	2	102782603	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	840	102782603	140416770	397	14696											
POU3F3	5455	broad.mit.edu	37	chr2	105472990	105472990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagctgggcttcacgcaggCcgacgtggggttggcgctgg	18	11	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:105472990C>T	uc010ywg.1	+	1	1022	c.1022C>T	c.(1021-1023)GCC>GTC	p.A341V		NM_006236	NP_006227	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	341	POU-specific.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			ovary(1)	1						TTCACGCAGGCCGACGTGGGG	0.642													T	105472990	C	T	105472990	3	4	19	1	0	0	0	0	1	0	0	0	12276	739	26	2	1024	2	POU3F3	2	105472990	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2690387	105472990	137726383	398	14697											
MRPS9	64965	broad.mit.edu	37	chr2	105716151	105716151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactacttactactgatccaCgtgtgagggaacggaagaag	12	8	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:105716151C>T	uc002tcn.3	+	11	1191	c.1123C>T	c.(1123-1125)CGT>TGT	p.R375C		NM_182640	NP_872578	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9 precursor	375					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0						TACTGATCCACGTGTGAGGGA	0.473													T	105716151	C	T	105716151	3	4	19	1	0	0	0	0	1	0	0	0	9849	536	19	1	1165	1	MRPS9	2	105716151	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	243161	105716151	137483222	399	14698											
GCC2	9648	broad.mit.edu	37	chr2	109087884	109087884	+	Frame_Shift_Del	DEL	A	A	-													aaacaataaactcagttcagAaaaaaaacagttgagtaggg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:109087883_109087883GA>G	uc002tec.3	+	5	2252	c.2098_2098GA>G	c.(2098-2100)gaafs	p.E700fs	GCC2_uc002ted.3_Frame_Shift_Del_p.E599fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	700					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACA	0.308													-	109087884	A	-	109087884	7	5	19	1	0	1	0	1	0	0	0	0	6286	246	9	0	2121	0	GCC2	2	109087884	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	3371733	109087884	134111489	400	14699											
LIMS1	3987	broad.mit.edu	37	chr2	109292351	109292351	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggaaggagctgactgccgAtgcacgggagctgaaagggg	18	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:109292351A>G	uc002teg.2	+	6	631	c.512A>G	c.(511-513)GAT>GGT	p.D171G	LIMS1_uc002tef.2_Missense_Mutation_p.D183G|LIMS1_uc002teh.2_Missense_Mutation_p.D171G|LIMS1_uc002tei.2_Missense_Mutation_p.D171G|LIMS1_uc002tej.2_Missense_Mutation_p.D208G|LIMS1_uc002tek.3_Missense_Mutation_p.D233G	NM_004987	NP_004978	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	171	LIM zinc-binding 3.				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding				0						CTGACTGCCGATGCACGGGAG	0.537													G	109292351	A	G	109292351	3	3	19	1	0	0	0	0	1	0	0	0	8803	333	12	3	530	3	LIMS1	2	109292351	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	204467	109292351	133907022	401	14700											
RANBP2	5903	broad.mit.edu	37	chr2	109388156	109388156	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttttttgactggtgttacaGcaaaagagaagaaaaaacct	8	5	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:109388156G>T	uc002tem.3	+	21	7976	c.7850_splice	c.e21-1	p.A2617_splice		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TGGTGTTACAGCAAAAGAGAA	0.348													T	109388156	G	T	109388156	5	4	19	1	0	0	0	0	0	0	1	0	13028	985	34	5	7931	5	RANBP2	2	109388156	Splice_Site	SNP	G	TCGA-BR-4361-01A-01D-1158-08	95805	109388156	133811217	402	14701											
BUB1	699	broad.mit.edu	37	chr2	111413438	111413438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccagggttttgttgcagCgaataccccatacagttgag	12	9	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:111413438C>T	uc002tgc.2	-	16	1866	c.1754G>A	c.(1753-1755)CGC>CAC	p.R585H	BUB1_uc010yxh.1_Missense_Mutation_p.R565H|BUB1_uc010fkb.2_Missense_Mutation_p.R585H	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	585					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TTTGTTGCAGCGAATACCCCA	0.468													T	111413438	C	T	111413438	3	4	19	1	0	0	0	0	1	0	0	0	1570	768	27	1	1543	1	BUB1	2	111413438	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2025282	111413438	131785935	403	14702											
BCL2L11	10018	broad.mit.edu	37	chr2	111881525	111881525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcccgctggccccacctgCcagccctggcccttttgcta	11	19	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:111881525C>T	uc002tgv.1	+	2	491	c.203C>T	c.(202-204)GCC>GTC	p.A68V	BCL2L11_uc002tgt.1_Intron|BCL2L11_uc002tgu.1_Intron|BCL2L11_uc002tgw.1_Intron|BCL2L11_uc002tgx.1_Intron|BCL2L11_uc010fkd.1_Intron|BCL2L11_uc002tgy.1_Intron|BCL2L11_uc002tgz.1_Intron|BCL2L11_uc010fke.1_Intron|BCL2L11_uc002tha.1_Missense_Mutation_p.A68V|BCL2L11_uc002thb.1_Intron|BCL2L11_uc002thc.1_Intron|BCL2L11_uc002thd.1_Intron	NM_138621	NP_619527	O43521	B2L11_HUMAN	BCL2-like 11 isoform 1	68					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding|protein binding				0						GCCCCACCTGCCAGCCCTGGC	0.577													T	111881525	C	T	111881525	3	4	19	1	0	0	0	0	1	0	0	0	1369	739	26	2	205	2	BCL2L11	2	111881525	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	468087	111881525	131317848	404	14703											
ANAPC1	64682	broad.mit.edu	37	chr2	112636490	112636492	+	In_Frame_Del	DEL	TCA	TCA	-													ttccagcaacatagagttccTcatcatagtccacatcttct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:112636490_112636492delTCA	uc002thi.2	-	3	517_519	c.270_272delTGA	c.(268-273)GATGAG>GAG	p.D90del	ANAPC1_uc002thj.2_In_Frame_Del_p.D80del	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	90					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				skin(2)	2						ATAGAGTTCCTCATCATAGTCCA	0.369													-	112636492	TCA	-	112636490	7	5	19	1	0	1	0	1	0	0	0	0	598	1551	54	0	5746	0	ANAPC1	2	112636490	In_Frame_Del	DEL	TCA	TCGA-BR-4361-01A-01D-1158-08	754965	112636490	130562883	405	14704											
PTPN4	5775	broad.mit.edu	37	chr2	120677773	120677773	+	Frame_Shift_Del	DEL	T	T	-													ccacttccacctcaaaagaaTttttttgcacattattttac							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:120677773delT	uc002tmf.1	+	12	1728	c.957delT	c.(955-957)AATfs	p.N319fs	PTPN4_uc010flj.1_Frame_Shift_Del_p.N32fs	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	319						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	CTCAAAAGAATTTTTTTGCAC	0.333													-	120677773	T	-	120677773	7	5	19	1	0	1	0	1	0	0	0	0	12790	1490	52	0	999	0	PTPN4	2	120677773	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	8041283	120677773	122521600	406	14705											
CLASP1	23332	broad.mit.edu	37	chr2	122286340	122286340	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagcatctcctagtctgtcTattagacttggcagcactga	8	10	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:122286340T>C	uc002tnc.2	-	4	681	c.291A>G	c.(289-291)ATA>ATG	p.I97M	CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.I97M|CLASP1_uc010yza.1_Missense_Mutation_p.I97M|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_Intron|CLASP1_uc002tng.1_Missense_Mutation_p.I97M|RNU4ATAC_uc010yzd.1_5'Flank	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	97	HEAT 1.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)					CTAGTCTGTCTATTAGACTTG	0.453													C	122286340	T	C	122286340	3	2	19	1	0	0	0	0	1	0	0	0	3454	1512	53	3	4525	3	CLASP1	2	122286340	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1608567	122286340	120913033	407	14706											
IWS1	55677	broad.mit.edu	37	chr2	128249592	128249592	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttagaccttgactccttggGgtgtttatagagatacatca	10	7	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:128249592G>T	uc002ton.2	-	10	2305	c.2002C>A	c.(2002-2004)CCC>ACC	p.P668T	IWS1_uc010yzl.1_RNA	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	668	TFIIS N-terminal.				transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GACTCCTTGGGGTGTTTATAG	0.413													T	128249592	G	T	128249592	3	4	19	1	0	0	0	0	1	0	0	0	7931	1232	43	5	477	5	IWS1	2	128249592	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	5963252	128249592	114949781	408	14707											
GPR17	2840	broad.mit.edu	37	chr2	128409237	128409237	+	Frame_Shift_Del	DEL	A	A	-													agttccgccacgccctgtgcAacttgctctgtggcaaaagg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:128409236_128409236CA>C	uc010yzn.2	+	3	1622	c.1011_1011CA>C	c.(1009-1011)tgcfs	p.C337fs	LIMS2_uc002tox.3_Intron|LIMS2_uc010fmb.3_Intron|LIMS2_uc002toy.3_Intron|LIMS2_uc002tpa.3_Intron|LIMS2_uc002toz.3_Intron|LIMS2_uc010yzm.2_Intron|LIMS2_uc002tpb.3_Intron|GPR17_uc002tpc.3_Frame_Shift_Del_p.C337fs|GPR17_uc010yzo.2_Frame_Shift_Del_p.C309fs|GPR17_uc002tpd.3_Frame_Shift_Del_p.C309fs	NM_001161415	NP_001154889	Q13304	GPR17_HUMAN	Homo sapiens G protein-coupled receptor 17 (GPR17), transcript variant 1, mRNA.	337						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		ACGCCCTGTGCAACTTGCTCT	0.612													-	128409237	A	-	128409237	7	5	19	1	0	1	0	1	0	0	0	0	6667	130	5	0	1018	0	GPR17	2	128409237	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	159645	128409237	114790136	409	14708											
SAP130	79595	broad.mit.edu	37	chr2	128750826	128750826	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtatgtgccgccagtgggTatgcagaaggggggtaagtt	18	5	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:128750826T>C	uc002tpp.2	-	12	1622	c.1490A>G	c.(1489-1491)TAC>TGC	p.Y497C	SAP130_uc002tpn.2_Missense_Mutation_p.Y258C|SAP130_uc002tpo.2_Missense_Mutation_p.Y242C|SAP130_uc010fmd.2_Missense_Mutation_p.Y497C|SAP130_uc002tpq.1_Missense_Mutation_p.Y470C	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	497					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CGCCAGTGGGTATGCAGAAGG	0.453													C	128750826	T	C	128750826	3	2	19	1	0	0	0	0	1	0	0	0	13831	1638	57	3	1801	3	SAP130	2	128750826	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	341589	128750826	114448547	410	14709											
CCDC74B	91409	broad.mit.edu	37	chr2	130897491	130897491	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagaggctcttggtggagAccttggggaaatgcgtggct	18	6	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:130897491A>G	uc002tqm.1	-	7	1042	c.980T>C	c.(979-981)GTC>GCC	p.V327A	CCDC74B_uc010yzw.1_Missense_Mutation_p.V429A|CCDC74B_uc002tqn.1_Missense_Mutation_p.V261A	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	327											0	Colorectal(110;0.1)					CTTGGTGGAGACCTTGGGGAA	0.637													G	130897491	A	G	130897491	3	3	19	1	0	0	0	0	1	0	0	0	2848	275	10	3	170	3	CCDC74B	2	130897491	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2146665	130897491	112301882	411	14710											
SMPD4	55627	broad.mit.edu	37	chr2	130912735	130912735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcggaacaccatgagcgCgtgcttggggctgaccaggt	14	12	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:130912735C>T	uc002tqq.1	-	15	2024	c.1504G>A	c.(1504-1506)GCG>ACG	p.A502T	SMPD4_uc002tqo.1_5'UTR|SMPD4_uc002tqp.1_Missense_Mutation_p.A241T|SMPD4_uc010yzy.1_Missense_Mutation_p.A251T|SMPD4_uc010yzz.1_Missense_Mutation_p.A166T|SMPD4_uc002tqr.1_Missense_Mutation_p.A473T|SMPD4_uc002tqs.1_Missense_Mutation_p.A370T|SMPD4_uc002tqt.1_Missense_Mutation_p.A351T|SMPD4_uc010zaa.1_Missense_Mutation_p.A360T|SMPD4_uc010zab.1_Missense_Mutation_p.A400T|SMPD4_uc010zac.1_Missense_Mutation_p.A243T|SMPD4_uc010zad.1_Missense_Mutation_p.A138T	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4 isoform 2	463					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity				0	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	ACCATGAGCGCGTGCTTGGGG	0.582													T	130912735	C	T	130912735	3	4	19	1	0	0	0	0	1	0	0	0	14807	768	27	1	1120	1	SMPD4	2	130912735	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	15244	130912735	112286638	412	14711											
TUBA3D	113457	broad.mit.edu	37	chr2	132237972	132237972	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctgattgggcagatcgtgTcctccatcacagcctccctg	10	15	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:132237972T>C	uc002tsu.3	+	4	813	c.706T>C	c.(706-708)TCC>CCC	p.S236P		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	236					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(221;0.13)		GCAGATCGTGTCCTCCATCAC	0.552													C	132237972	T	C	132237972	3	2	19	1	0	0	0	0	1	0	0	0	16744	1667	58	3	720	3	TUBA3D	2	132237972	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1325237	132237972	110961401	413	14712											
UBXN4	23190	broad.mit.edu	37	chr2	136530012	136530012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgcagagagagctgctcGttttgcaaagacaaaggaag	13	8	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:136530012G>A	uc002tur.2	+	9	1156	c.845G>A	c.(844-846)CGT>CAT	p.R282H	UBXN4_uc002tus.2_Missense_Mutation_p.R48H	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	UBX domain containing 2	282	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			skin(2)	2						AGAGCTGCTCGTTTTGCAAAG	0.413													A	136530012	G	A	136530012	3	1	19	1	0	0	0	0	1	0	0	0	16913	1145	40	1	879	1	UBXN4	2	136530012	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	4292040	136530012	106669361	414	14713											
LRP1B	53353	broad.mit.edu	37	chr2	141143483	141143483	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagttttcttcatctgaatTatcactgcagtcattttggc	6	9	5	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:141143483T>C	uc002tvj.1	-	67	11482	c.10510A>G	c.(10510-10512)AAT>GAT	p.N3504D		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3504	Extracellular (Potential).|LDL-receptor class A 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATCTGAATTATCACTGCAG	0.373										TSP Lung(27;0.18)			C	141143483	T	C	141143483	3	2	19	1	0	0	0	0	1	0	0	0	8955	1754	61	3	3389	3	LRP1B	2	141143483	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	4613471	141143483	102055890	415	14714											
LRP1B	53353	broad.mit.edu	37	chr2	141356355	141356355	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttttcccagtcagagtagAtctcatgatacttggatgtt	8	7	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:141356355A>G	uc002tvj.1	-	43	8011	c.7039T>C	c.(7039-7041)TCT>CCT	p.S2347P		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2347	Extracellular (Potential).|LDL-receptor class B 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCAGAGTAGATCTCATGATA	0.358										TSP Lung(27;0.18)			G	141356355	A	G	141356355	3	3	19	1	0	0	0	0	1	0	0	0	8955	333	12	3	6956	3	LRP1B	2	141356355	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	212872	141356355	101843018	416	14715											
LRP1B	53353	broad.mit.edu	37	chr2	141806579	141806579	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttcaggatggtttctctctCtgtgccatctatcttctgcc	7	12	6	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:141806579C>G	uc002tvj.1	-	11	2737	c.1765G>C	c.(1765-1767)GAG>CAG	p.E589Q	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	589	Extracellular (Potential).|LDL-receptor class B 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTTCTCTCTCTGTGCCATCT	0.428										TSP Lung(27;0.18)			G	141806579	C	G	141806579	3	3	19	1	0	0	0	0	1	0	0	0	8955	922	32	5	12358	5	LRP1B	2	141806579	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	450224	141806579	101392794	417	14716											
LRP1B	53353	broad.mit.edu	37	chr2	142238089	142238089	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaggggcacttgatttcTacctcctcgggacctgaaaa	9	11	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:142238089T>C	uc002tvj.1	-	3	1191	c.219A>G	c.(217-219)GTA>GTG	p.V73V	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	73	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTTGATTTCTACCTCCTCGG	0.398										TSP Lung(27;0.18)			C	142238089	T	C	142238089	2	2	19	1	0	0	0	0	0	0	0	1	8955	1509	53	3		3	LRP1B	2	142238089	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	431510	142238089	100961284	418	14717											
KYNU	8942	broad.mit.edu	37	chr2	143676273	143676273	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggttaaaacatatcttgaaGaagaactagataagtgggcc	10	5	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:143676273G>A	uc002tvl.2	+	3	395	c.265G>A	c.(265-267)GAA>AAA	p.E89K	KYNU_uc002tvk.2_Missense_Mutation_p.E89K|KYNU_uc010fnm.2_Missense_Mutation_p.E89K	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	89					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ATATCTTGAAGAAGAACTAGA	0.289													A	143676273	G	A	143676273	3	1	19	1	0	0	0	0	1	0	0	0	8587	943	33	4	271	4	KYNU	2	143676273	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1438184	143676273	99523100	419	14718											
KYNU	8942	broad.mit.edu	37	chr2	143718341	143718341	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagctggacaagcgaaggTatgcacgccatttacttctt	9	9	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:143718341T>C	uc002tvl.2	+	8	859	c.729_splice	c.e8+2	p.K243_splice	KYNU_uc002tvk.2_Splice_Site_p.K243_splice|KYNU_uc010fnm.2_Splice_Site_p.K243_splice	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a						anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CAAGCGAAGGTATGCACGCCA	0.428													C	143718341	T	C	143718341	5	2	19	1	0	0	0	0	0	0	1	0	8587	1652	57	3	757	3	KYNU	2	143718341	Splice_Site	SNP	T	TCGA-BR-4361-01A-01D-1158-08	42068	143718341	99481032	420	14719											
ARHGAP15	55843	broad.mit.edu	37	chr2	143913190	143913190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcagccaaagtaaatccaTgatcctcaccgatgtcggga	9	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:143913190T>C	uc002tvm.3	+	2	282	c.131T>C	c.(130-132)ATG>ACG	p.M44T	ARHGAP15_uc010zbl.1_Missense_Mutation_p.M44T	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	44					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)		AGTAAATCCATGATCCTCACC	0.433													C	143913190	T	C	143913190	3	2	19	1	0	0	0	0	1	0	0	0	866	1464	51	3	133	3	ARHGAP15	2	143913190	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	194849	143913190	99286183	421	14720											
ARHGAP15	55843	broad.mit.edu	37	chr2	144276929	144276929	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcattgaagctgttgagaaAagaggtgggtgactgaatgt	15	3	0	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:144276929A>G	uc002tvm.3	+	10	1072	c.921A>G	c.(919-921)AAA>AAG	p.K307K	ARHGAP15_uc002tvn.2_Silent_p.K73K	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	307	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)		CTGTTGAGAAAAGAGGTGGGT	0.453													G	144276929	A	G	144276929	2	3	19	1	0	0	0	0	0	0	0	1	866	11	1	3		3	ARHGAP15	2	144276929	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	363739	144276929	98922444	422	14721											
ZEB2	9839	broad.mit.edu	37	chr2	145187336	145187336	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagtgattttagacacttacCtggaccatctacagaggctt	8	9	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:145187336C>A	uc002tvu.2	-	3	811	c.331G>T	c.(331-333)GAA>TAA	p.E111*	ZEB2_uc002tvv.2_Nonsense_Mutation_p.E106*|ZEB2_uc010zbm.1_Missense_Mutation_p.V106L|ZEB2_uc010fnp.2_Missense_Mutation_p.D106Y|ZEB2_uc010fnq.1_Nonsense_Mutation_p.E140*|ZEB2_uc002tvw.2_Missense_Mutation_p.G106C	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	111						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		AGACACTTACCTGGACCATCT	0.448													A	145187336	C	A	145187336	4	1	19	1	0	0	0	0	0	1	0	0	17621	695	24	5	3345	5	ZEB2	2	145187336	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	910407	145187336	98012037	423	14722											
KIF5C	3800	broad.mit.edu	37	chr2	149868108	149868108	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccatccgccccggacactAcccggcctcatctccaacgg	8	21	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:149868108A>G	uc010zbu.1	+	25	3160	c.2792A>G	c.(2791-2793)TAC>TGC	p.Y931C	KIF5C_uc002tws.1_RNA|KIF5C_uc002twu.1_Missense_Mutation_p.Y213C	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	931	Globular.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)		CCCGGACACTACCCGGCCTCA	0.498													G	149868108	A	G	149868108	3	3	19	1	0	0	0	0	1	0	0	0	8307	391	14	3	2812	3	KIF5C	2	149868108	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	4680772	149868108	93331265	424	14723											
RIF1	55183	broad.mit.edu	37	chr2	152273138	152273138	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagaattcagacaaaaatgTacgtactagagcactttggg	9	6	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:152273138T>C	uc002txm.2	+	5	474	c.344T>C	c.(343-345)GTA>GCA	p.V115A	RIF1_uc002txl.2_Missense_Mutation_p.V115A|RIF1_uc010fnv.1_Missense_Mutation_p.V79A|RIF1_uc002txn.2_Missense_Mutation_p.V115A|RIF1_uc002txo.2_Missense_Mutation_p.V115A|RIF1_uc010zby.1_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	115					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GACAAAAATGTACGTACTAGA	0.343													C	152273138	T	C	152273138	3	2	19	1	0	0	0	0	1	0	0	0	13359	1638	57	3	358	3	RIF1	2	152273138	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2405030	152273138	90926235	425	14724											
RIF1	55183	broad.mit.edu	37	chr2	152273371	152273371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttaacaaaggagagacGcattctgctgttgttgattt	10	6	1	2	rs149505451	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:152273371G>A	uc002txm.2	+	6	589	c.459G>A	c.(457-459)ACG>ACA	p.T153T	RIF1_uc002txl.2_Silent_p.T153T|RIF1_uc010fnv.1_Silent_p.T117T|RIF1_uc002txn.2_Silent_p.T153T|RIF1_uc002txo.2_Silent_p.T153T|RIF1_uc010zby.1_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	153					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAGGAGAGACGCATTCTGCTG	0.299													A	152273371	G	A	152273371	2	1	19	1	0	0	0	0	0	0	0	1	13359	1074	38	1		1	RIF1	2	152273371	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	233	152273371	90926002	426	14725											
ARL5A	26225	broad.mit.edu	37	chr2	152670734	152670734	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacgaagagattcttggccAccaatatcccacattaggaa	8	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:152670734A>G	uc002txx.1	-	3	523	c.204T>C	c.(202-204)GGT>GGC	p.G68G	ARL5A_uc010zcc.1_RNA|ARL5A_uc002txv.1_Silent_p.G31G|ARL5A_uc002txw.1_Silent_p.G31G	NM_012097	NP_036229	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A isoform 1	68	GTP (By similarity).				small GTPase mediated signal transduction	intracellular	GTP binding				0				BRCA - Breast invasive adenocarcinoma(221;0.153)		ATTCTTGGCCACCAATATCCC	0.333													G	152670734	A	G	152670734	2	3	19	1	0	0	0	0	0	0	0	1	939	146	6	3		3	ARL5A	2	152670734	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	397363	152670734	90528639	427	14726											
STAM2	10254	broad.mit.edu	37	chr2	152982811	152982811	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctttgaatagactgagtacaCtggtgcttcattcaccaatt	7	9	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:152982811C>G	uc002tyc.3	-	12	1458	c.1108G>C	c.(1108-1110)GTG>CTG	p.V370L	STAM2_uc010foa.1_Missense_Mutation_p.V370L	NM_005843	NP_005834	O75886	STAM2_HUMAN	signal transducing adaptor molecule 2	370	ITAM.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.22)		ACTGAGTACACTGGTGCTTCA	0.408													G	152982811	C	G	152982811	3	3	19	1	0	0	0	0	1	0	0	0	15248	565	20	5	481	5	STAM2	2	152982811	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	312077	152982811	90216562	428	14727											
KCNJ3	3760	broad.mit.edu	37	chr2	155555563	155555563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttcattctcacctacacCgtggcctggcttttcatggc	7	14	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:155555563C>T	uc002tyv.1	+	1	471	c.276C>T	c.(274-276)ACC>ACT	p.T92T	KCNJ3_uc010zce.1_Silent_p.T92T	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	92	Helical; Name=M1; (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	TCACCTACACCGTGGCCTGGC	0.597													T	155555563	C	T	155555563	2	4	19	1	0	0	0	0	0	0	0	1	8052	639	23	1		1	KCNJ3	2	155555563	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2572752	155555563	87643810	429	14728											
UPP2	151531	broad.mit.edu	37	chr2	158978111	158978111	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgttggacatacaatgtgTacctatgatttttatgaagg	9	6	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:158978111T>C	uc002tzp.2	+	5	839	c.645T>C	c.(643-645)TGT>TGC	p.C215C	UPP2_uc002tzo.2_Silent_p.C272C	NM_173355	NP_775491	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform a	215					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity				0						ATACAATGTGTACCTATGATT	0.368													C	158978111	T	C	158978111	2	2	19	1	0	0	0	0	0	0	0	1	17010	1644	57	3		3	UPP2	2	158978111	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	3422548	158978111	84221262	430	14729											
UPP2	151531	broad.mit.edu	37	chr2	158978125	158978125	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgtacctatgatttttAtgaaggtgagaacaatttat	8	3	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:158978125A>T	uc002tzp.2	+	5	853	c.659A>T	c.(658-660)TAT>TTT	p.Y220F	UPP2_uc002tzo.2_Missense_Mutation_p.Y277F	NM_173355	NP_775491	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform a	220					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity				0						TATGATTTTTATGAAGGTGAG	0.353													T	158978125	A	T	158978125	3	4	19	1	0	0	0	0	1	0	0	0	17010	449	16	5	856	5	UPP2	2	158978125	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	14	158978125	84221248	431	14730											
PKP4	8502	broad.mit.edu	37	chr2	159481713	159481713	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccctcaataccaaaccacCgccagagtggggtccccact	7	18	1	1	rs150827409		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:159481713C>T	uc002tzv.2	+	7	1187	c.927C>T	c.(925-927)ACC>ACT	p.T309T	PKP4_uc002tzt.1_Silent_p.T161T|PKP4_uc002tzu.2_Silent_p.T309T|PKP4_uc002tzw.2_Silent_p.T309T|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Silent_p.T307T|PKP4_uc002uaa.2_Silent_p.T161T	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	309					cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						ACCAAACCACCGCCAGAGTGG	0.627										HNSCC(62;0.18)			T	159481713	C	T	159481713	2	4	19	1	0	0	0	0	0	0	0	1	11987	639	23	1		1	PKP4	2	159481713	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	503588	159481713	83717660	432	14731											
TANC1	85461	broad.mit.edu	37	chr2	159954333	159954334	+	Frame_Shift_Ins	INS	-	-	A													tggtgcaatcaagagtgaacINSaaaaaatccccaggtaaaca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:159954333_159954334insA	uc002uag.2	+	4	520_521	c.246_247insA	c.(244-249)AACAAAfs	p.N82fs	TANC1_uc010fol.1_Frame_Shift_Ins_p.N82fs|TANC1_uc010zcm.1_Frame_Shift_Ins_p.N82fs|TANC1_uc010fom.1_Frame_Shift_Ins_p.N82fs	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	82_83						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						CAAGAGTGAACAAAAAATCCCC	0.455													A	159954334	-	A	159954333	7	5	19	1	0	1	1	0	0	0	0	0	15541	477	17	0	252	0	TANC1	2	159954333	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	472620	159954333	83245040	433	14732	50	2									
TANC1	85461	broad.mit.edu	37	chr2	159954334	159954335	+	Frame_Shift_Ins	INS	-	-	A													ggtgcaatcaagagtgaacaINSaaaaatccccaggtaaacag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:159954333_159954334C>CA	uc002uag.3	+	3	520_521	c.246_247C>CA	c.(244-249)aacaaafs	p.N82fs	TANC1_uc010fol.1_Frame_Shift_Ins_p.N82fs|TANC1_uc010zcm.2_Frame_Shift_Ins_p.N82fs|TANC1_uc010fom.1_Frame_Shift_Ins_p.N82fs	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	82						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CAAGAGTGAACAAAAAATCCCC	0.455													A	159954335	-	A	159954334	7	5	19	1	0	1	1	0	0	0	0	0	15541	131	5	0	253	0	TANC1	2	159954334	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	1	159954334	83245039	434	14733	50	2									
TANC1	85461	broad.mit.edu	37	chr2	160028760	160028760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagagaccaagagaggatGcagtgaaatatcttgcttct	10	8	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:160028760G>A	uc002uag.2	+	11	1754	c.1480G>A	c.(1480-1482)GCA>ACA	p.A494T	TANC1_uc010fol.1_Missense_Mutation_p.A388T|TANC1_uc010zcm.1_Missense_Mutation_p.A486T|TANC1_uc010fom.1_Missense_Mutation_p.A300T	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	494						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						AAGAGAGGATGCAGTGAAATA	0.428													A	160028760	G	A	160028760	3	1	19	1	0	0	0	0	1	0	0	0	15541	1319	46	2	1514	2	TANC1	2	160028760	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	74426	160028760	83170613	435	14734											
BAZ2B	29994	broad.mit.edu	37	chr2	160206353	160206353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaagaagcagttgacatatCggcatgagtaagtgaagtgt	12	5	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:160206353C>T	uc002uao.2	-	28	5081	c.4729G>A	c.(4729-4731)GAT>AAT	p.D1577N	BAZ2B_uc002uap.2_Missense_Mutation_p.D1541N	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						GTTGACATATCGGCATGAGTA	0.463													T	160206353	C	T	160206353	3	4	19	1	0	0	0	0	1	0	0	0	1332	884	31	1	1817	1	BAZ2B	2	160206353	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	177593	160206353	82993020	436	14735											
BAZ2B	29994	broad.mit.edu	37	chr2	160289437	160289437	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggatgggagtgatgctgTgtttttactgggtttacatt	14	4	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:160289437T>C	uc002uao.2	-	9	2083	c.1731A>G	c.(1729-1731)ACA>ACG	p.T577T	BAZ2B_uc002uap.2_Silent_p.T575T|BAZ2B_uc002uas.1_Silent_p.T514T|BAZ2B_uc002uaq.1_Silent_p.T505T|BAZ2B_uc002uar.1_Silent_p.T150T	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						AGTGATGCTGTGTTTTTACTG	0.413													C	160289437	T	C	160289437	2	2	19	1	0	0	0	0	0	0	0	1	1332	1683	59	3		3	BAZ2B	2	160289437	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	83084	160289437	82909936	437	14736											
SLC4A10	57282	broad.mit.edu	37	chr2	162760516	162760516	+	Frame_Shift_Del	DEL	T	T	-													ttttcccccctgtcttaggaTttttgggggacttattttag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:162760516delT	uc002ubx.3	+	13	1629	c.1445delT	c.(1444-1446)ATTfs	p.I482fs	SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Frame_Shift_Del_p.I452fs|SLC4A10_uc010zcs.1_Frame_Shift_Del_p.I463fs	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	482	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						TGTCTTAGGATTTTTGGGGGA	0.378													-	162760516	T	-	162760516	7	5	19	1	0	1	0	1	0	0	0	0	14651	1493	52	0	1580	0	SLC4A10	2	162760516	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	2471079	162760516	80438857	438	14737											
FIGN	55137	broad.mit.edu	37	chr2	164466663	164466663	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taattttctctgcttctcctAaccacttggcgactagtcca	5	13	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:164466663A>G	uc002uck.1	-	3	1990	c.1679T>C	c.(1678-1680)TTA>TCA	p.L560S		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	560						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						TGCTTCTCCTAACCACTTGGC	0.498													G	164466663	A	G	164466663	3	3	19	1	0	0	0	0	1	0	0	0	5891	372	13	3	604	3	FIGN	2	164466663	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1706147	164466663	78732710	439	14738											
FIGN	55137	broad.mit.edu	37	chr2	164467532	164467532	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggcaggtacgctgaaggCggaggcggtgcccccccagg	18	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:164467532C>T	uc002uck.1	-	3	1121	c.810G>A	c.(808-810)CCG>CCA	p.P270P		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	270	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						ACGCTGAAGGCGGAGGCGGTG	0.597													T	164467532	C	T	164467532	2	4	19	1	0	0	0	0	0	0	0	1	5891	755	27	1		1	FIGN	2	164467532	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	869	164467532	78731841	440	14739											
GRB14	2888	broad.mit.edu	37	chr2	165364963	165364963	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgcctccggcgagattAccttaagcaatctaatcgcg	8	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:165364963A>G	uc002ucl.2	-	8	1564	c.1023_splice	c.e8+1	p.K341_splice	GRB14_uc010zcv.1_Splice_Site_p.K254_splice|GRB14_uc002ucm.2_Splice_Site	NM_004490	NP_004481	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14						blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						CGGCGAGATTACCTTAAGCAA	0.468													G	165364963	A	G	165364963	5	3	19	1	0	0	0	0	0	0	1	0	6757	405	14	3	625	3	GRB14	2	165364963	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	897431	165364963	77834410	441	14740											
COBLL1	22837	broad.mit.edu	37	chr2	165551885	165551885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacaaattggatcttttaCggtaagcggatcttctgaat	9	7	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:165551885C>T	uc010zcw.1	-	15	2456	c.2332G>A	c.(2332-2334)GTA>ATA	p.V778I	COBLL1_uc002ucp.2_Missense_Mutation_p.V711I|COBLL1_uc002ucq.2_Missense_Mutation_p.V673I|COBLL1_uc010zcx.1_Missense_Mutation_p.V719I|COBLL1_uc002ucn.2_Missense_Mutation_p.V139I|COBLL1_uc002uco.2_Missense_Mutation_p.V442I	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	749										ovary(2)|pancreas(1)	3						GGATCTTTTACGGTAAGCGGA	0.383													T	165551885	C	T	165551885	3	4	19	1	0	0	0	0	1	0	0	0	3654	536	19	1	1381	1	COBLL1	2	165551885	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	186922	165551885	77647488	442	14741											
SCN3A	6328	broad.mit.edu	37	chr2	166019138	166019138	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtcccatttgaatccaTtgtgccattaaagtaggaag	8	7	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:166019138T>C	uc002ucx.2	-	8	1387	c.895A>G	c.(895-897)ATG>GTG	p.M299V	SCN3A_uc002ucy.2_Missense_Mutation_p.M299V|SCN3A_uc002ucz.2_Missense_Mutation_p.M299V|SCN3A_uc002uda.1_Missense_Mutation_p.M168V|SCN3A_uc002udb.1_Missense_Mutation_p.M168V	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	299						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	TTTGAATCCATTGTGCCATTA	0.393													C	166019138	T	C	166019138	3	2	19	1	0	0	0	0	1	0	0	0	13918	1493	52	3	5191	3	SCN3A	2	166019138	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	467253	166019138	77180235	443	14742											
SCN2A	6326	broad.mit.edu	37	chr2	166226695	166226695	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaccatgttagaatatgcTgacaaggttttcacttacat	7	7	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:166226695T>C	uc002udc.2	+	20	4025	c.3735T>C	c.(3733-3735)GCT>GCC	p.A1245A	SCN2A_uc002udd.2_Silent_p.A1245A|SCN2A_uc002ude.2_Silent_p.A1245A	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1245	Helical; Name=S2 of repeat III; (Potential).|III.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	TAGAATATGCTGACAAGGTTT	0.348													C	166226695	T	C	166226695	2	2	19	1	0	0	0	0	0	0	0	1	13916	1567	55	3		3	SCN2A	2	166226695	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	207557	166226695	76972678	444	14743											
SCN2A	6326	broad.mit.edu	37	chr2	166243472	166243472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctcttcgttactactatTtcactattggatggaatatt	5	8	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:166243472T>C	uc002udc.2	+	26	5058	c.4768T>C	c.(4768-4770)TTC>CTC	p.F1590L	SCN2A_uc002udd.2_Missense_Mutation_p.F1590L|SCN2A_uc002ude.2_Missense_Mutation_p.F1590L	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1590	IV.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	TTACTACTATTTCACTATTGG	0.343													C	166243472	T	C	166243472	3	2	19	1	0	0	0	0	1	0	0	0	13916	1841	64	3	4962	3	SCN2A	2	166243472	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	16777	166243472	76955901	445	14744											
TTC21B	79809	broad.mit.edu	37	chr2	166747086	166747086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attataaagggcattttggcCccagtcacgatctttccgag	9	10	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:166747086C>T	uc002udk.2	-	24	3299	c.3166G>A	c.(3166-3168)GGC>AGC	p.G1056S	TTC21B_uc002udj.1_RNA	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1056	TPR 16.					cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						GCATTTTGGCCCCAGTCACGA	0.378													T	166747086	C	T	166747086	3	4	19	1	0	0	0	0	1	0	0	0	16685	623	22	4	808	4	TTC21B	2	166747086	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	503614	166747086	76452287	446	14745											
SCN1A	6323	broad.mit.edu	37	chr2	166847923	166847925	+	In_Frame_Del	DEL	AAG	AAG	-													attatcatgtcttcttttatAagaagattagccccaccttt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:166847922_166847924TAAG>T	uc002udo.4	-	27	6088_6090	c.5861_5863CTTA>A	c.(5860-5865)cttata>cAta	p.1954_1955LI>H	SCN1A_uc010fpk.3_In_Frame_Del_p.1926_1927LI>H|SCN1A_uc021vsb.1_In_Frame_Del_p.1943_1944LI>H	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1954						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTTCTTTTATAAGAAGATTAGC	0.369													-	166847925	AAG	-	166847923	7	5	19	1	0	1	0	1	0	0	0	0	13914	349	13	0	171	0	SCN1A	2	166847923	In_Frame_Del	DEL	AAG	TCGA-BR-4361-01A-01D-1158-08	100837	166847923	76351450	447	14746											
SCN9A	6335	broad.mit.edu	37	chr2	167083198	167083198	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtagaggctatattcatatTtgggctgcttgtctacctat	9	7	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:167083198T>C	uc010fpl.2	-	24	4585	c.4244A>G	c.(4243-4245)AAA>AGA	p.K1415R	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1426	III.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATATTCATATTTGGGCTGCTT	0.303													C	167083198	T	C	167083198	3	2	19	1	0	0	0	0	1	0	0	0	13925	1841	64	3	1705	3	SCN9A	2	167083198	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	235275	167083198	76116175	448	14747											
XIRP2	129446	broad.mit.edu	37	chr2	167760302	167760302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaggattccctgagcagtCggcgcaggattgaacgcttt	14	9	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:167760302C>T	uc002udx.2	+	1	328	c.310C>T	c.(310-312)CGG>TGG	p.R104W	XIRP2_uc010fpn.2_Missense_Mutation_p.R104W|XIRP2_uc010fpo.2_Missense_Mutation_p.R104W|XIRP2_uc010fpp.2_Missense_Mutation_p.R104W	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	Error:Variant_position_missing_in_A4UGR9_after_alignment					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CCTGAGCAGTCGGCGCAGGAT	0.517													T	167760302	C	T	167760302	3	4	19	1	0	0	0	0	1	0	0	0	17427	875	31	1	312	1	XIRP2	2	167760302	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	677104	167760302	75439071	449	14748											
XIRP2	129446	broad.mit.edu	37	chr2	168101702	168101702	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttaagacggtgacagacaTacaaggtggggatgtaagaa	14	4	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:168101702T>G	uc002udx.2	+	8	3818	c.3800T>G	c.(3799-3801)ATA>AGA	p.I1267R	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.I1092R|XIRP2_uc010fpq.2_Missense_Mutation_p.I1045R|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1092					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GTGACAGACATACAAGGTGGG	0.348													G	168101702	T	G	168101702	3	3	19	1	0	0	0	0	1	0	0	0	17427	1406	49	5	3830	5	XIRP2	2	168101702	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	341400	168101702	75097671	450	14749											
STK39	27347	broad.mit.edu	37	chr2	169103919	169103919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggggaagctggacgtgCacgggcgagccgctcggctc	18	12	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:169103919C>T	uc002uea.2	-	1	187	c.27G>A	c.(25-27)GTG>GTA	p.V9V		NM_013233	NP_037365	Q9UEW8	STK39_HUMAN	serine threonine kinase 39 (STE20/SPS1 homolog,	9					response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2						GCTGGACGTGCACGGGCGAGC	0.448													T	169103919	C	T	169103919	2	4	19	1	0	0	0	0	0	0	0	1	15304	697	25	2		2	STK39	2	169103919	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1002217	169103919	74095454	451	14750											
DHRS9	10170	broad.mit.edu	37	chr2	169948389	169948390	+	Frame_Shift_Ins	INS	-	-	A													gatccagtaaaggtaattgaINSaaaaaaactcgccatttggg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:169948388_169948389G>GA	uc010zdc.2	+	3	953_954	c.841_842G>GA	c.(841-843)gaafs	p.E281fs	DHRS9_uc002uep.3_Frame_Shift_Ins_p.E221fs|DHRS9_uc002ueq.3_Frame_Shift_Ins_p.E221fs|DHRS9_uc010zdd.2_Frame_Shift_Ins_p.E221fs|DHRS9_uc010zde.2_Frame_Shift_Ins_p.E221fs	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	221					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AAAGGTAATTGAAAAAAAACTC	0.426													A	169948390	-	A	169948389	7	5	19	1	0	1	1	0	0	0	0	0	4498	246	9	0	672	0	DHRS9	2	169948389	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	844470	169948389	73250984	452	14751											
TLK1	9874	broad.mit.edu	37	chr2	171914690	171914690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgctaattttgtggccacGtcccccaatactttttccta	6	13	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:171914690G>A	uc002ugn.2	-	5	896	c.424C>T	c.(424-426)CGT>TGT	p.R142C	TLK1_uc002ugo.2_Missense_Mutation_p.R163C|TLK1_uc002ugp.2_Missense_Mutation_p.R94C|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Missense_Mutation_p.R46C	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1 isoform 1	142					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						TTGTGGCCACGTCCCCCAATA	0.373													A	171914690	G	A	171914690	3	1	19	1	0	0	0	0	1	0	0	0	15940	1145	40	1	1944	1	TLK1	2	171914690	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1966301	171914690	71284683	453	14752											
CYBRD1	79901	broad.mit.edu	37	chr2	172398264	172398264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatatgtacagtctgcacagCtgggttggactgatagctgt	12	7	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:172398264C>T	uc002ugy.3	+	2	553	c.363C>T	c.(361-363)AGC>AGT	p.S121S	CYBRD1_uc002ugz.3_Intron	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1 isoform 1	121	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding				0						GTCTGCACAGCTGGGTTGGAC	0.378													T	172398264	C	T	172398264	2	4	19	1	0	0	0	0	0	0	0	1	4134	796	28	2		2	CYBRD1	2	172398264	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	483574	172398264	70801109	454	14753											
SP3	6670	broad.mit.edu	37	chr2	174820514	174820514	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaggaaaagatgaaccAccaattgcaactccctgaac	7	12	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:174820514A>G	uc002uig.2	-	4	890	c.726T>C	c.(724-726)GGT>GGC	p.G242G	SP3_uc002uie.2_Silent_p.G174G|SP3_uc002uif.2_Silent_p.G189G|SP3_uc010zel.1_Silent_p.G239G	NM_003111	NP_003102	Q02447	SP3_HUMAN	Sp3 transcription factor isoform 1	242					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.185)			AAGATGAACCACCAATTGCAA	0.438													G	174820514	A	G	174820514	2	3	19	1	0	0	0	0	0	0	0	1	14965	146	6	3		3	SP3	2	174820514	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2422250	174820514	68378859	455	14754											
CHRNA1	1134	broad.mit.edu	37	chr2	175618330	175618330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagaggggcaggcgctgcaTgacgaagtggtaggtgatgt	19	5	0	3	rs111856577		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:175618330T>C	uc002ujd.2	-	7	832	c.754A>G	c.(754-756)ATG>GTG	p.M252V	uc002uiw.2_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.M227V|CHRNA1_uc002ujf.3_Missense_Mutation_p.M227V	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	nicotinic cholinergic receptor alpha 1 isoform a	252	Extracellular.				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(2)|central_nervous_system(1)|skin(1)	4						AGGCGCTGCATGACGAAGTGG	0.592													C	175618330	T	C	175618330	3	2	19	1	0	0	0	0	1	0	0	0	3381	1464	51	3	710	3	CHRNA1	2	175618330	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	797816	175618330	67581043	456	14755											
KIAA1715	80856	broad.mit.edu	37	chr2	176802227	176802227	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggttcaagaaaaaacagTaggcacatcgaaaagctgca	10	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:176802227T>C	uc002ukc.1	-	12	1092	c.899A>G	c.(898-900)TAC>TGC	p.Y300C	KIAA1715_uc010zer.1_Missense_Mutation_p.Y331C|KIAA1715_uc010fqw.1_Missense_Mutation_p.Y366C|KIAA1715_uc010zes.1_Missense_Mutation_p.Y302C|KIAA1715_uc002ukd.1_Missense_Mutation_p.Y177C|KIAA1715_uc010zet.1_RNA	NM_030650	NP_085153	Q9C0E8	LNP_HUMAN	Lunapark	300	Cytoplasmic (Potential).					integral to membrane	protein binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			GAAAAAACAGTAGGCACATCG	0.388													C	176802227	T	C	176802227	3	2	19	1	0	0	0	0	1	0	0	0	8254	1638	57	3	395	3	KIAA1715	2	176802227	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1183897	176802227	66397146	457	14756											
HOXD3	3232	broad.mit.edu	37	chr2	177034214	177034214	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaccccctcctccaccaccGaccctgcccccatcttcacc	2	26	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:177034214G>A	uc002ukt.1	+	2	548	c.372G>A	c.(370-372)CCG>CCA	p.P124P		NM_006898	NP_008829	P31249	HXD3_HUMAN	homeobox D3	124	Poly-Pro.				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		ctccaccaccgaccctgcccc	0.483													A	177034214	G	A	177034214	2	1	19	1	0	0	0	0	0	0	0	1	7323	1045	37	1		1	HOXD3	2	177034214	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	231987	177034214	66165159	458	14757											
TTN	7273	broad.mit.edu	37	chr2	179391860	179391860	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatcagggttgtcaggTcatctgtgttttcaatgtgg	13	5	5	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:179391860T>C	uc010zfg.1	-	312	100375	c.100151A>G	c.(100150-100152)GAC>GGC	p.D33384G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D27079G|TTN_uc010zfi.1_Missense_Mutation_p.D27012G|TTN_uc010zfj.1_Missense_Mutation_p.D26887G|TTN_uc002umq.2_Missense_Mutation_p.D300G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	34311							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTGTCAGGTCATCTGTGTT	0.463													C	179391860	T	C	179391860	3	2	19	1	0	0	0	0	1	0	0	0	16732	1667	58	3	124	3	TTN	2	179391860	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2357646	179391860	63807513	459	14758											
TTN	7273	broad.mit.edu	37	chr2	179446774	179446774	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttctttctataataggttTtctgttgaccttagtccagt	7	7	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:179446774T>C	uc010zfg.1	-	264	58842	c.58618A>G	c.(58618-58620)AAA>GAA	p.K19540E	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K13235E|TTN_uc010zfi.1_Missense_Mutation_p.K13168E|TTN_uc010zfj.1_Missense_Mutation_p.K13043E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20467							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAATAGGTTTTCTGTTGACC	0.453													C	179446774	T	C	179446774	3	2	19	1	0	0	0	0	1	0	0	0	16732	1850	64	3	41849	3	TTN	2	179446774	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	54914	179446774	63752599	460	14759											
TTN	7273	broad.mit.edu	37	chr2	179451486	179451486	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaggctaaggtggcactgTtcttggtcatttcagtcact	10	10	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:179451486T>C	uc010zfg.1	-	257	56662	c.56438A>G	c.(56437-56439)AAC>AGC	p.N18813S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N12508S|TTN_uc010zfi.1_Missense_Mutation_p.N12441S|TTN_uc010zfj.1_Missense_Mutation_p.N12316S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19740							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGGCACTGTTCTTGGTCAT	0.453													C	179451486	T	C	179451486	3	2	19	1	0	0	0	0	1	0	0	0	16732	1725	60	3	44057	3	TTN	2	179451486	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	4712	179451486	63747887	461	14760											
TTN	7273	broad.mit.edu	37	chr2	179483422	179483422	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaattctgaaagaagtttGttcagccgtagtatcaatgg	9	5	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:179483422G>A	uc010zfg.1	-	200	39375	c.39151C>T	c.(39151-39153)CAA>TAA	p.Q13051*	TTN_uc010zfh.1_Nonsense_Mutation_p.Q6746*|TTN_uc010zfi.1_Nonsense_Mutation_p.Q6679*|TTN_uc010zfj.1_Nonsense_Mutation_p.Q6554*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13978							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGAAGTTTGTTCAGCCGTA	0.373													A	179483422	G	A	179483422	4	1	19	1	0	0	0	0	0	1	0	0	16732	1386	48	4	61286	4	TTN	2	179483422	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	31936	179483422	63715951	462	14761											
TTN	7273	broad.mit.edu	37	chr2	179495802	179495802	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtcttatctgtcccacagTcacaggtgtactgtccaata	8	11	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:179495802T>C	uc010zfg.1	-	186	36493	c.36269A>G	c.(36268-36270)GAC>GGC	p.D12090G	TTN_uc010zfh.1_Missense_Mutation_p.D5785G|TTN_uc010zfi.1_Missense_Mutation_p.D5718G|TTN_uc010zfj.1_Missense_Mutation_p.D5593G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13017							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTCCCACAGTCACAGGTGTA	0.413													C	179495802	T	C	179495802	3	2	19	1	0	0	0	0	1	0	0	0	16732	1667	58	3	64224	3	TTN	2	179495802	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	12380	179495802	63703571	463	14762											
TTN	7273	broad.mit.edu	37	chr2	179529600	179529600	+	Frame_Shift_Del	DEL	T	T	-													tttaactgatgggggttctcTttttttggaaggaactgtct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:179529600delT	uc010zfk.1	-	11	1083	c.535delA	c.(535-537)AGAfs	p.R179fs	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron			Q8WZ42	TITIN_HUMAN	SubName: Full=Titin; Flags: Fragment;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGGGTTCTCTTTTTTTGGAA	0.378													-	179529600	T	-	179529600	7	5	19	1	0	1	0	1	0	0	0	0	16732	1624	56	0		0	TTN	2	179529600	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	33798	179529600	63669773	464	14763											
TTN	7273	broad.mit.edu	37	chr2	179636101	179636101	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgccatccctcaaccaTtcgcctttggaatctgggtt	8	12	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:179636101T>A	uc010zfg.1	-	34	8177	c.7953A>T	c.(7951-7953)GAA>GAT	p.E2651D	TTN_uc010zfh.1_Missense_Mutation_p.E2605D|TTN_uc010zfi.1_Missense_Mutation_p.E2605D|TTN_uc010zfj.1_Missense_Mutation_p.E2605D|TTN_uc002unb.2_Missense_Mutation_p.E2651D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2651							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCTCAACCATTCGCCTTTGG	0.483													A	179636101	T	A	179636101	3	1	19	1	0	0	0	0	1	0	0	0	16732	1490	52	5	103351	5	TTN	2	179636101	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	106501	179636101	63563272	465	14764											
CWC22	57703	broad.mit.edu	37	chr2	180815357	180815357	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagactctgaagaggaggaCgctgaagaggaagaggatgg	17	5	2	6			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:180815357C>T	uc010frh.1	-	19	2322	c.2022G>A	c.(2020-2022)GCG>GCA	p.A674A	CWC22_uc002uno.2_Silent_p.A196A|CWC22_uc002unp.2_Silent_p.A674A	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog	674	Ser-rich.					catalytic step 2 spliceosome	protein binding|RNA binding				0						AAGAGGAGGACGCTGAAGAGG	0.473													T	180815357	C	T	180815357	2	4	19	1	0	0	0	0	0	0	0	1	4068	523	19	1		1	CWC22	2	180815357	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1179256	180815357	62384016	466	14765											
CERKL	375298	broad.mit.edu	37	chr2	182468700	182468700	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgatacctaataaagtAccacttctctgctgtttaac	6	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:182468700A>G	uc002unx.2	-	2	446	c.345T>C	c.(343-345)GGT>GGC	p.G115G	CERKL_uc002uny.2_Silent_p.G115G|CERKL_uc010zfm.1_Silent_p.G115G|CERKL_uc002unz.2_5'UTR|CERKL_uc002uoa.2_Silent_p.G115G|CERKL_uc002uob.2_5'UTR|CERKL_uc002uoc.2_Silent_p.G115G|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_5'UTR|CERKL_uc002uoe.2_Silent_p.G115G	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	ceramide kinase-like isoform b	115					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTAATAAAGTACCACTTCTCT	0.328													G	182468700	A	G	182468700	2	3	19	1	0	0	0	0	0	0	0	1	3268	378	14	3		3	CERKL	2	182468700	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1653343	182468700	60730673	467	14766											
ZNF804A	91752	broad.mit.edu	37	chr2	185801510	185801510	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctgtaatcctctatgttttGacttcaagtctactaaagta	6	8	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:185801510G>A	uc002uph.2	+	4	1981	c.1387G>A	c.(1387-1389)GAC>AAC	p.D463N		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	463						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						TCTATGTTTTGACTTCAAGTC	0.353													A	185801510	G	A	185801510	3	1	19	1	0	0	0	0	1	0	0	0	18167	1290	45	4	1401	4	ZNF804A	2	185801510	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3332810	185801510	57397863	468	14767											
ZNF804A	91752	broad.mit.edu	37	chr2	185802505	185802505	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagaatcatttaccagaagaAtttttgaggccaccaagtac	7	9	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:185802505A>T	uc002uph.2	+	4	2976	c.2382A>T	c.(2380-2382)GAA>GAT	p.E794D		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	794						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						TACCAGAAGAATTTTTGAGGC	0.383													T	185802505	A	T	185802505	3	4	19	1	0	0	0	0	1	0	0	0	18167	98	4	5	2396	5	ZNF804A	2	185802505	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	995	185802505	57396868	469	14768											
COL3A1	1281	broad.mit.edu	37	chr2	189849518	189849518	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatgttcccatcttggtcagTcctatgcggatagagatgtc	11	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:189849518T>A	uc002uqj.1	+	2	229	c.112T>A	c.(112-114)TCC>ACC	p.S38T		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	38	VWFC.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCTTGGTCAGTCCTATGCGGA	0.428													A	189849518	T	A	189849518	3	1	19	1	0	0	0	0	1	0	0	0	3688	1667	58	5	118	5	COL3A1	2	189849518	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	4047013	189849518	53349855	470	14769											
COL5A2	1290	broad.mit.edu	37	chr2	189904010	189904010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactcaccactctgctttgCggaatggcaaagctttaggt	9	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:189904010C>T	uc002uqk.2	-	51	4188	c.3913G>A	c.(3913-3915)GCA>ACA	p.A1305T	COL5A2_uc010frx.2_Missense_Mutation_p.A881T	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1305	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CTCTGCTTTGCGGAATGGCAA	0.433													T	189904010	C	T	189904010	3	4	19	1	0	0	0	0	1	0	0	0	3697	768	27	1	602	1	COL5A2	2	189904010	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	54492	189904010	53295363	471	14770											
ANKAR	150709	broad.mit.edu	37	chr2	190557886	190557886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattactcaataccagtcatGgaatttcatggaaaaaggta	7	6	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:190557886G>A	uc002uqw.1	+	4	1077	c.1077G>A	c.(1075-1077)ATG>ATA	p.M359I	ANKAR_uc002uqu.2_RNA	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	430						integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TACCAGTCATGGAATTTCATG	0.289													A	190557886	G	A	190557886	3	1	19	1	0	0	0	0	1	0	0	0	623	1348	47	4	1304	4	ANKAR	2	190557886	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	653876	190557886	52641487	472	14771											
MFSD6	54842	broad.mit.edu	37	chr2	191301720	191301720	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtatctgggaaaacacagagAtcgctatgggttgcagcgca	13	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:191301720A>T	uc002urz.2	+	3	1289	c.965A>T	c.(964-966)GAT>GTT	p.D322V		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	322					transmembrane transport	integral to membrane				ovary(2)	2						AAACACAGAGATCGCTATGGG	0.527													T	191301720	A	T	191301720	3	4	19	1	0	0	0	0	1	0	0	0	9535	333	12	5	967	5	MFSD6	2	191301720	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	743834	191301720	51897653	473	14772											
DNAH7	56171	broad.mit.edu	37	chr2	196825456	196825456	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttttctccagtttatataAtcctctccagtaatttccaa	4	10	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:196825456A>G	uc002utj.3	-	18	2520	c.2419T>C	c.(2419-2421)TTA>CTA	p.L807L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	807	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						AGTTTATATAATCCTCTCCAG	0.378													G	196825456	A	G	196825456	2	3	19	1	0	0	0	0	0	0	0	1	4606	98	4	3		3	DNAH7	2	196825456	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	5523736	196825456	46373917	474	14773											
PLCL1	5334	broad.mit.edu	37	chr2	198950524	198950524	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacggaattccagcggattgTtcggaacaaagaactaaaac	9	9	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:198950524T>C	uc010fsp.2	+	2	2574	c.2283T>C	c.(2281-2283)TGT>TGC	p.C761C	PLCL1_uc002uuv.3_Silent_p.C682C	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	761	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	CAGCGGATTGTTCGGAACAAA	0.423													C	198950524	T	C	198950524	2	2	19	1	0	0	0	0	0	0	0	1	12039	1731	60	3		3	PLCL1	2	198950524	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2125068	198950524	44248849	475	14774											
SATB2	23314	broad.mit.edu	37	chr2	200245100	200245100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgacctgggagagagggCattctttggctaatgtgctc	13	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:200245100C>T	uc002uuy.1	-	5	1401	c.584G>A	c.(583-585)TGC>TAC	p.C195Y	SATB2_uc010fsq.1_Intron|SATB2_uc002uuz.1_Missense_Mutation_p.C195Y|SATB2_uc002uva.1_Missense_Mutation_p.C195Y	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	195						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGAGAGAGGGCATTCTTTGGC	0.502													T	200245100	C	T	200245100	3	4	19	1	0	0	0	0	1	0	0	0	13854	710	25	2	1645	2	SATB2	2	200245100	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1294576	200245100	42954273	476	14775											
C2orf60	129450	broad.mit.edu	37	chr2	200800652	200800652	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtgaggtctagaaatcttAccaggaatgaataatacatc	8	6	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:200800652A>G	uc002uvi.3	-	7	957	c.691_splice	c.e7+1	p.A231_splice	C2orf60_uc002uvj.3_Splice_Site_p.A68_splice|C2orf60_uc002uvk.3_Splice_Site|C2orf60_uc010fss.2_Splice_Site_p.A68_splice	NM_001039693	NP_001034782	A2RUC4	TYW5_HUMAN	hypothetical protein LOC129450						wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding				0						TAGAAATCTTACCAGGAATGA	0.313													G	200800652	A	G	200800652	5	3	19	1	0	0	0	0	0	0	1	0	2179	405	14	3	262	3	C2orf60	2	200800652	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	555552	200800652	42398721	477	14776											
STRADB	55437	broad.mit.edu	37	chr2	202337729	202337729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgcacggcatactcccaCaggaacactggtaactataa	7	12	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:202337729C>T	uc002uyd.3	+	5	610	c.245C>T	c.(244-246)ACA>ATA	p.T82I		NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	82	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			skin(2)|stomach(1)|lung(1)	4						CATACTCCCACAGGAACACTG	0.333													T	202337729	C	T	202337729	3	4	19	1	0	0	0	0	1	0	0	0	15324	478	17	4	259	4	STRADB	2	202337729	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1537077	202337729	40861644	478	14777											
ALS2	57679	broad.mit.edu	37	chr2	202606542	202606542	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcggctagccacctcctGcaacagctggactgtagttg	11	12	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:202606542G>A	uc002uyo.2	-	11	2562	c.2206C>T	c.(2206-2208)CAG>TAG	p.Q736*	ALS2_uc002uyp.3_Nonsense_Mutation_p.Q736*|ALS2_uc002uyq.2_Nonsense_Mutation_p.Q736*|ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	736	DH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7						GCCACCTCCTGCAACAGCTGG	0.433													A	202606542	G	A	202606542	4	1	19	1	0	0	0	0	0	1	0	0	550	1328	46	2	2863	2	ALS2	2	202606542	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	268813	202606542	40592831	479	14778											
CDK15	65061	broad.mit.edu	37	chr2	202712162	202712162	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacctttgtttcctggggttTccaacatccttgaacagctg	8	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:202712162T>C	uc002uyt.2	+	9	959	c.910T>C	c.(910-912)TCC>CCC	p.S304P	CDK15_uc010ftm.2_Missense_Mutation_p.S169P|CDK15_uc002uys.2_Missense_Mutation_p.S253P|CDK15_uc010ftn.1_Missense_Mutation_p.S253P|CDK15_uc010fto.1_Missense_Mutation_p.S283P	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	PFTAIRE protein kinase 2	304	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(2)|ovary(1)|lung(1)|kidney(1)	5					Adenosine triphosphate(DB00171)	TCCTGGGGTTTCCAACATCCT	0.368													C	202712162	T	C	202712162	3	2	19	1	0	0	0	0	1	0	0	0	3131	1783	62	3	787	3	CDK15	2	202712162	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	105620	202712162	40487211	480	14779											
WDR12	55759	broad.mit.edu	37	chr2	203764352	203764352	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacgtattctatttccacAacttcttcctaatcacaaga	2	13	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:203764352A>G	uc002uzl.2	-	4	990	c.240T>C	c.(238-240)GTT>GTC	p.V80V	WDR12_uc010ftt.2_Silent_p.V80V	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	WD repeat domain 12 protein	80					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						CTATTTCCACAACTTCTTCCT	0.388													G	203764352	A	G	203764352	2	3	19	1	0	0	0	0	0	0	0	1	17271	117	5	3		3	WDR12	2	203764352	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1052190	203764352	39435021	481	14780											
NBEAL1	65065	broad.mit.edu	37	chr2	204001465	204001465	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaggaatatccagtgaActacttcgaccatcagatga	7	10	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:204001465A>G	uc002uzt.3	+	28	4779	c.4446A>G	c.(4444-4446)GAA>GAG	p.E1482E	NBEAL1_uc002uzs.3_Silent_p.E192E	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	1482							binding			ovary(1)|skin(1)	2						TATCCAGTGAACTACTTCGAC	0.363													G	204001465	A	G	204001465	2	3	19	1	0	0	0	0	0	0	0	1	10188	40	2	3		3	NBEAL1	2	204001465	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	237113	204001465	39197908	482	14781											
NBEAL1	65065	broad.mit.edu	37	chr2	204058623	204058623	+	Frame_Shift_Del	DEL	T	T	-													accttcctgaactcaagtcaTtttttatagaggtaatatcc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:204058622_204058622AT>A	uc002uzt.3	+	45	7272	c.6939_6939AT>A	c.(6937-6939)tcafs	p.S2313fs	NBEAL1_uc021vvj.1_Intron	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2313							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AACTCAAGTCATTTTTTATAG	0.343													-	204058623	T	-	204058623	7	5	19	1	0	1	0	1	0	0	0	0	10188	1493	52	0	7118	0	NBEAL1	2	204058623	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	57158	204058623	39140750	483	14782											
ABI2	10152	broad.mit.edu	37	chr2	204292052	204292052	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgggaattacgttgagTctatcatgcattattctgag	9	7	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:204292052T>C	uc002vaa.2	+	11	1754	c.1519T>C	c.(1519-1521)TCT>CCT	p.S507P	ABI2_uc002uzz.2_Missense_Mutation_p.S469P|ABI2_uc010zih.1_Missense_Mutation_p.S155P|ABI2_uc010zii.1_Missense_Mutation_p.S501P|ABI2_uc010zij.1_Missense_Mutation_p.S384P|ABI2_uc002vab.2_Missense_Mutation_p.S395P|ABI2_uc010zik.1_Missense_Mutation_p.S232P|ABI2_uc010zil.1_Missense_Mutation_p.S371P|ABI2_uc010zim.1_Missense_Mutation_p.S320P|ABI2_uc002vac.2_Missense_Mutation_p.S293P|ABI2_uc010zin.1_Missense_Mutation_p.S184P	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	abl interactor 2	507	SH3.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding				0						TTACGTTGAGTCTATCATGCA	0.458													C	204292052	T	C	204292052	3	2	19	1	0	0	0	0	1	0	0	0	89	1667	58	3	1443	3	ABI2	2	204292052	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	233429	204292052	38907321	484	14783											
PARD3B	117583	broad.mit.edu	37	chr2	206480189	206480189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctttccaggggaggaccCgcagatcctgtagactatct	10	12	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:206480189C>T	uc002var.1	+	23	3477	c.3270C>T	c.(3268-3270)CCC>CCT	p.P1090P	PARD3B_uc002vao.1_Silent_p.P989P|PARD3B_uc002vap.1_Silent_p.P1028P|PARD3B_uc002vaq.1_Silent_p.P1021P|uc010fuc.1_5'Flank	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	1090					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGGGAGGACCCGCAGATCCTG	0.413													T	206480189	C	T	206480189	2	4	19	1	0	0	0	0	0	0	0	1	11444	639	23	1		1	PARD3B	2	206480189	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2188137	206480189	36719184	485	14784											
INO80D	54891	broad.mit.edu	37	chr2	206869434	206869436	+	In_Frame_Del	DEL	AAG	AAG	-													ggcgtggatagggaagtggaAagaagatgtccatctgcgcc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:206869433_206869435AAAG>A	uc002vaz.4	-	10	3146_3148	c.2741_2743CTTT>T	c.(2740-2745)ctttcc>cTcc	p.S915del		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	646					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						AGGGAAGTGGAAAGAAGATGTCC	0.586													-	206869436	AAG	-	206869434	7	5	19	1	0	1	0	1	0	0	0	0	7749	1	1	0	345	0	INO80D	2	206869434	In_Frame_Del	DEL	AAG	TCGA-BR-4361-01A-01D-1158-08	389245	206869434	36329939	486	14785											
CRYGD	1421	broad.mit.edu	37	chr2	208986447	208986447	+	Frame_Shift_Del	DEL	C	C	-													gcccactctggcattcgtggCcccccagtcctggtagcgcc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:208986446_208986446GC>G	uc002vcn.4	-	2	592	c.476_476GC>C	c.(475-477)gccfs	p.A159fs	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Frame_Shift_Del_p.A159fs	NM_006891	NP_008822	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma D (CRYGD), mRNA.	159	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GGCATTCGTGGCCCCCCAGTC	0.502													-	208986447	C	-	208986447	7	5	19	1	0	1	0	1	0	0	0	0	3917	739	26	0	53	0	CRYGD	2	208986447	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	2117013	208986447	34212926	487	14786											
MAP2	4133	broad.mit.edu	37	chr2	210559232	210559232	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagctactggagaagaaagtActcaagcggagatatcatgt	11	6	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:210559232A>G	uc002vde.1	+	7	2586	c.2338A>G	c.(2338-2340)ACT>GCT	p.T780A	MAP2_uc002vdc.1_Missense_Mutation_p.T780A|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.T776A	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	780					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGAAGAAAGTACTCAAGCGGA	0.453													G	210559232	A	G	210559232	3	3	19	1	0	0	0	0	1	0	0	0	9235	391	14	3	2352	3	MAP2	2	210559232	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1572785	210559232	32640141	488	14787											
MAP2	4133	broad.mit.edu	37	chr2	210559555	210559555	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcacctgttcaagacagtgaGaatttatcaggggagagtgg	13	6	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:210559555G>T	uc002vde.1	+	7	2909	c.2661G>T	c.(2659-2661)GAG>GAT	p.E887D	MAP2_uc002vdc.1_Missense_Mutation_p.E887D|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.E883D	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	887					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AAGACAGTGAGAATTTATCAG	0.448													T	210559555	G	T	210559555	3	4	19	1	0	0	0	0	1	0	0	0	9235	933	33	5	2675	5	MAP2	2	210559555	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	323	210559555	32639818	489	14788											
C2orf67	151050	broad.mit.edu	37	chr2	211018861	211018861	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatccagaataatttgtAcatctttcatgcactggctc	6	9	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:211018861A>G	uc002vds.2	-	2	654	c.446T>C	c.(445-447)GTA>GCA	p.V149A	C2orf67_uc002vdt.2_Missense_Mutation_p.V149A|C2orf67_uc002vdw.2_Missense_Mutation_p.V149A|C2orf67_uc002vdy.1_Missense_Mutation_p.V149A|C2orf67_uc002vdv.2_Missense_Mutation_p.V149A|C2orf67_uc002vdx.1_Missense_Mutation_p.V149A	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	149										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)		AATAATTTGTACATCTTTCAT	0.353													G	211018861	A	G	211018861	3	3	19	1	0	0	0	0	1	0	0	0	2186	391	14	3	2573	3	C2orf67	2	211018861	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	459306	211018861	32180512	490	14789											
CPS1	1373	broad.mit.edu	37	chr2	211469862	211469862	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaaattctggtggagaagTcagtgacaggttggaaagaa	13	5	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:211469862T>C	uc002vee.3	+	17	2005	c.1873T>C	c.(1873-1875)TCA>CCA	p.S625P	CPS1_uc010fur.2_Missense_Mutation_p.S631P|CPS1_uc010fus.2_Missense_Mutation_p.S174P	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	625	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGTGGAGAAGTCAGTGACAGG	0.393													C	211469862	T	C	211469862	3	2	19	1	0	0	0	0	1	0	0	0	3823	1667	58	3	1961	3	CPS1	2	211469862	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	451001	211469862	31729511	491	14790											
CPS1	1373	broad.mit.edu	37	chr2	211471538	211471538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtacttcaatcaatgttgttCgccacttgggcattgtgggt	11	8	2	0	rs147443001		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:211471538C>T	uc002vee.3	+	18	2197	c.2065C>T	c.(2065-2067)CGC>TGC	p.R689C	CPS1_uc010fur.2_Missense_Mutation_p.R695C|CPS1_uc010fus.2_Missense_Mutation_p.R238C	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	689	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CAATGTTGTTCGCCACTTGGG	0.468													T	211471538	C	T	211471538	3	4	19	1	0	0	0	0	1	0	0	0	3823	884	31	1	2157	1	CPS1	2	211471538	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1676	211471538	31727835	492	14791											
SPAG16	79582	broad.mit.edu	37	chr2	214878730	214878730	+	Frame_Shift_Del	DEL	T	T	-													attctgtgaacagcattgagTtttttcctttctccaatact							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:214878729_214878729GT>G	uc002veq.3	+	12	1547	c.1455_1455GT>G	c.(1453-1455)gagfs	p.E485fs	SPAG16_uc010fuz.2_Frame_Shift_Del_p.E336fs|SPAG16_uc002ver.3_Frame_Shift_Del_p.E431fs|SPAG16_uc010zjk.2_Frame_Shift_Del_p.E391fs	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	485					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		ACAGCATTGAGTTTTTTCCTT	0.363													-	214878730	T	-	214878730	7	5	19	1	0	1	0	1	0	0	0	0	14978	1725	60	0	1522	0	SPAG16	2	214878730	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	3407192	214878730	28320643	493	14792											
SPAG16	79582	broad.mit.edu	37	chr2	215013877	215013877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgaagggtcacatgatagCatcctgtgatgcctgtgggg	14	7	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:215013877C>T	uc002veq.2	+	15	1699	c.1607C>T	c.(1606-1608)GCA>GTA	p.A536V	SPAG16_uc010fuz.1_Missense_Mutation_p.A387V|SPAG16_uc002ver.2_Missense_Mutation_p.A482V|SPAG16_uc010zjk.1_Missense_Mutation_p.A442V	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	536	WD 5.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CACATGATAGCATCCTGTGAT	0.294													T	215013877	C	T	215013877	3	4	19	1	0	0	0	0	1	0	0	0	14978	710	25	2	1681	2	SPAG16	2	215013877	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	135147	215013877	28185496	494	14793											
BARD1	580	broad.mit.edu	37	chr2	215632335	215632335	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgccttatgctggagcAataattccactaccttcagg	7	12	1	0	rs149839922		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:215632335A>G	uc002veu.2	-	6	1574	c.1439T>C	c.(1438-1440)TTG>TCG	p.L480S	BARD1_uc010zjm.1_Missense_Mutation_p.L336S	NM_000465	NP_000456	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	480	ANK 2.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATGCTGGAGCAATAATTCCAC	0.408									Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				G	215632335	A	G	215632335	3	3	19	1	0	0	0	0	1	0	0	0	1312	131	5	3	918	3	BARD1	2	215632335	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	618458	215632335	27567038	495	14794											
ABCA12	26154	broad.mit.edu	37	chr2	215838763	215838763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactgtctttgtttaaacaCtgtctgcaagttaaaatgat	7	6	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:215838763C>T	uc002vew.2	-	36	5692	c.5472G>A	c.(5470-5472)CAG>CAA	p.Q1824Q	ABCA12_uc002vev.2_Silent_p.Q1506Q|ABCA12_uc010zjn.1_Silent_p.Q751Q	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1824					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGTTTAAACACTGTCTGCAAG	0.368													T	215838763	C	T	215838763	2	4	19	1	0	0	0	0	0	0	0	1	30	564	20	4		4	ABCA12	2	215838763	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	206428	215838763	27360610	496	14795											
FN1	2335	broad.mit.edu	37	chr2	216257711	216257711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccattaatgagagtgataaCgctgatatcatagtcaatgc	9	7	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:216257711C>T	uc002vfa.2	-	25	4278	c.4012G>A	c.(4012-4014)GTT>ATT	p.V1338I	FN1_uc002vfb.2_Intron|FN1_uc002vfc.2_Intron|FN1_uc002vfd.2_Missense_Mutation_p.V1338I|FN1_uc002vfe.2_Intron|FN1_uc002vff.2_Intron|FN1_uc002vfg.2_Intron|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Missense_Mutation_p.V1338I|FN1_uc002vfj.2_Missense_Mutation_p.V1338I|FN1_uc002vez.2_5'Flank|FN1_uc010zjp.1_5'UTR	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1338	Fibronectin type-III 8.|Cell-attachment.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAGTGATAACGCTGATATCA	0.463													T	216257711	C	T	216257711	3	4	19	1	0	0	0	0	1	0	0	0	5962	536	19	1	3509	1	FN1	2	216257711	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	418948	216257711	26941662	497	14796											
FN1	2335	broad.mit.edu	37	chr2	216271937	216271937	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcatagatagtgatgttatActgaacaccaggttgcaagt	10	6	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:216271937A>G	uc002vfa.2	-	18	2892	c.2626T>C	c.(2626-2628)TAT>CAT	p.Y876H	FN1_uc002vfb.2_Missense_Mutation_p.Y876H|FN1_uc002vfc.2_Missense_Mutation_p.Y876H|FN1_uc002vfd.2_Missense_Mutation_p.Y876H|FN1_uc002vfe.2_Missense_Mutation_p.Y876H|FN1_uc002vff.2_Missense_Mutation_p.Y876H|FN1_uc002vfg.2_Missense_Mutation_p.Y876H|FN1_uc002vfh.2_Missense_Mutation_p.Y876H|FN1_uc002vfi.2_Missense_Mutation_p.Y876H|FN1_uc002vfj.2_Missense_Mutation_p.Y876H	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	876	Fibronectin type-III 3.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGATGTTATACTGAACACCA	0.433													G	216271937	A	G	216271937	3	3	19	1	0	0	0	0	1	0	0	0	5962	391	14	3	4923	3	FN1	2	216271937	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	14226	216271937	26927436	498	14797											
FN1	2335	broad.mit.edu	37	chr2	216274388	216274388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaccacaaagctactggCtgtgatttcggtcacagatt	11	9	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:216274388C>T	uc002vfa.2	-	15	2463	c.2197G>A	c.(2197-2199)GCC>ACC	p.A733T	FN1_uc002vfb.2_Missense_Mutation_p.A733T|FN1_uc002vfc.2_Missense_Mutation_p.A733T|FN1_uc002vfd.2_Missense_Mutation_p.A733T|FN1_uc002vfe.2_Missense_Mutation_p.A733T|FN1_uc002vff.2_Missense_Mutation_p.A733T|FN1_uc002vfg.2_Missense_Mutation_p.A733T|FN1_uc002vfh.2_Missense_Mutation_p.A733T|FN1_uc002vfi.2_Missense_Mutation_p.A733T|FN1_uc002vfj.2_Missense_Mutation_p.A733T	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	733	Fibronectin type-III 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGCTACTGGCTGTGATTTCG	0.537													T	216274388	C	T	216274388	3	4	19	1	0	0	0	0	1	0	0	0	5962	797	28	2	5364	2	FN1	2	216274388	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2451	216274388	26924985	499	14798											
FN1	2335	broad.mit.edu	37	chr2	216299477	216299477	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccataacaagtacaaaccaaCgcattgcctaggtaggtccg	8	12	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:216299477C>T	uc002vfa.2	-	2	485	c.219G>A	c.(217-219)GCG>GCA	p.A73A	FN1_uc002vfb.2_Silent_p.A73A|FN1_uc002vfc.2_Silent_p.A73A|FN1_uc002vfd.2_Silent_p.A73A|FN1_uc002vfe.2_Silent_p.A73A|FN1_uc002vff.2_Silent_p.A73A|FN1_uc002vfg.2_Silent_p.A73A|FN1_uc002vfh.2_Silent_p.A73A|FN1_uc002vfi.2_Silent_p.A73A|FN1_uc002vfj.2_Silent_p.A73A|FN1_uc002vfl.2_Silent_p.A73A	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	73	Fibrin- and heparin-binding 1.|Fibronectin type-I 1.			A -> V (in Ref. 9; CAA26536).	acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TACAAACCAACGCATTGCCTA	0.403													T	216299477	C	T	216299477	2	4	19	1	0	0	0	0	0	0	0	1	5962	523	19	1		1	FN1	2	216299477	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	25089	216299477	26899896	500	14799											
RPL37A	6168	broad.mit.edu	37	chr2	217364716	217364716	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggatctggcactgtggttcCtgcatgaagacagtggctgg	16	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:217364716C>A	uc002vgf.2	+	3	255	c.177C>A	c.(175-177)TCC>TCA	p.S59S	RPL37A_uc002vgg.2_Silent_p.S59S	NM_000998	NP_000989	P61513	RL37A_HUMAN	ribosomal protein L37a	59	C4-type.				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	metal ion binding|protein binding|structural constituent of ribosome			ovary(1)	1		Renal(323;0.0458)		Epithelial(149;3.51e-06)|all cancers(144;0.000249)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTGTGGTTCCTGCATGAAGA	0.463													A	217364716	C	A	217364716	2	1	19	1	0	0	0	0	0	0	0	1	13590	668	24	5		5	RPL37A	2	217364716	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1065239	217364716	25834657	501	14800											
RNF25	64320	broad.mit.edu	37	chr2	219529962	219529962	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacactggacactgcacaccGactgccttctaaaaaagaga	7	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:219529962G>A	uc002vit.2	-	8	670	c.582C>T	c.(580-582)GTC>GTT	p.V194V	RNF25_uc010fvw.2_Silent_p.V82V	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	194	RING-type.				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTGCACACCGACTGCCTTCT	0.532													A	219529962	G	A	219529962	2	1	19	1	0	0	0	0	0	0	0	1	13485	1045	37	1		1	RNF25	2	219529962	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2165246	219529962	23669411	502	14801											
TTLL4	9654	broad.mit.edu	37	chr2	219616528	219616528	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacccagaaaattcctgatcAggtaggagattggtcttccc	10	10	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:219616528A>C	uc002viy.2	+	16	3345	c.2975A>C	c.(2974-2976)CAG>CCG	p.Q992P	TTLL4_uc010zkl.1_Missense_Mutation_p.Q827P|TTLL4_uc010fvx.2_Missense_Mutation_p.Q928P|TTLL4_uc010zkm.1_Missense_Mutation_p.Q195P	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	992					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		ATTCCTGATCAGGTAGGAGAT	0.443													C	219616528	A	C	219616528	3	2	19	1	0	0	0	0	1	0	0	0	16726	202	7	5	3029	5	TTLL4	2	219616528	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	86566	219616528	23582845	503	14802											
PRKAG3	53632	broad.mit.edu	37	chr2	219695557	219695557	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtttcccacggattctTtctgagctgctggtcacagc	9	14	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:219695557T>A	uc002vjb.1	-	3	160	c.141A>T	c.(139-141)GAA>GAT	p.E47D	PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Missense_Mutation_p.E47D|PRKAG3_uc010zko.1_Missense_Mutation_p.E47D	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	AMP-activated protein kinase, non-catalytic	47					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			ovary(1)|lung(1)	2		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACGGATTCTTTCTGAGCTGC	0.562													A	219695557	T	A	219695557	3	1	19	1	0	0	0	0	1	0	0	0	12502	1838	64	5	1372	5	PRKAG3	2	219695557	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	79029	219695557	23503816	504	14803											
CDK5R2	8941	broad.mit.edu	37	chr2	219824814	219824814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccaagccggcatccacggGccccgaccccctggtccagc	10	21	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:219824814G>A	uc002vjf.2	+	1	417	c.272G>A	c.(271-273)GGC>GAC	p.G91D		NM_003936	NP_003927	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2	91					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCATCCACGGGCCCCGACCCC	0.697													A	219824814	G	A	219824814	3	1	19	1	0	0	0	0	1	0	0	0	3144	1203	42	2	274	2	CDK5R2	2	219824814	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	129257	219824814	23374559	505	14804											
CCDC108	255101	broad.mit.edu	37	chr2	219894331	219894331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaggggctgctcggagcGctccccaaggttgacccagc	13	16	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:219894331G>A	uc002vjl.1	-	11	1528	c.1444C>T	c.(1444-1446)CGC>TGC	p.R482C	CCDC108_uc010fwa.1_5'UTR|CCDC108_uc010zkp.1_Missense_Mutation_p.R471C|CCDC108_uc010zkq.1_Missense_Mutation_p.R417C	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	482						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTCGGAGCGCTCCCCAAGG	0.577											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	219894331	G	A	219894331	3	1	19	1	0	0	0	0	1	0	0	0	2743	1087	38	1	4433	1	CCDC108	2	219894331	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	69517	219894331	23305042	506	14805											
SLC23A3	151295	broad.mit.edu	37	chr2	220034124	220034124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatggagcctggacaagagGcagcctgtaggaacagcagc	16	9	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:220034124G>A	uc010zks.1	-	3	436	c.325C>T	c.(325-327)CCT>TCT	p.P109S	NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Missense_Mutation_p.P109S|SLC23A3_uc010fwb.2_Missense_Mutation_p.P109S|SLC23A3_uc002vjs.1_5'Flank|SLC23A3_uc002vjt.1_5'UTR	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN	solute carrier family 23 (nucleobase	109	Cytoplasmic (Potential).				transmembrane transport	integral to membrane	protein binding|transporter activity				0		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGACAAGAGGCAGCCTGTAG	0.602													A	220034124	G	A	220034124	3	1	19	1	0	0	0	0	1	0	0	0	14464	1203	42	2	1571	2	SLC23A3	2	220034124	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	139793	220034124	23165249	507	14806											
ATG9A	79065	broad.mit.edu	37	chr2	220088662	220088662	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcattaccctgccagtggtCaggcatgtagtggatgtgag	15	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:220088662C>T	uc002vke.1	-	9	1534	c.1348G>A	c.(1348-1350)GAC>AAC	p.D450N	ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Missense_Mutation_p.D450N	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN	APG9 autophagy 9-like 1	450	Lumenal (By similarity).				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCCAGTGGTCAGGCATGTAG	0.587													T	220088662	C	T	220088662	3	4	19	1	0	0	0	0	1	0	0	0	1102	826	29	4	1203	4	ATG9A	2	220088662	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	54538	220088662	23110711	508	14807											
DNAJB2	3300	broad.mit.edu	37	chr2	220149365	220149365	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcttgcaggtgtcccagatGacctggcactgggcttggag	14	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:220149365G>A	uc002vkx.1	+	9	868	c.631G>A	c.(631-633)GAC>AAC	p.D211N	DNAJB2_uc002vkw.1_Missense_Mutation_p.D211N|DNAJB2_uc002vky.2_Missense_Mutation_p.D27N|DNAJB2_uc010zlb.1_Missense_Mutation_p.D27N	NM_006736	NP_006727	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	211	UIM 1.				ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding				0		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTCCCAGATGACCTGGCACT	0.622													A	220149365	G	A	220149365	3	1	19	1	0	0	0	0	1	0	0	0	4620	1290	45	4	661	4	DNAJB2	2	220149365	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	60703	220149365	23050008	509	14808											
SPEG	10290	broad.mit.edu	37	chr2	220312963	220312963	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagaagtccaagtcgtcCgggccctccctggcgggcac	15	14	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:220312963C>T	uc010fwg.2	+	4	1083	c.1083C>T	c.(1081-1083)TCC>TCT	p.S361S	SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'Flank	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	361					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCAAGTCGTCCGGGCCCTCCC	0.716													T	220312963	C	T	220312963	2	4	19	1	0	0	0	0	0	0	0	1	15035	639	23	1		1	SPEG	2	220312963	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	163598	220312963	22886410	510	14809											
SPEG	10290	broad.mit.edu	37	chr2	220332065	220332065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactgctcaaatgcaagatGcatttcgatggccgcaaatg	10	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:220332065G>A	uc010fwg.2	+	10	3051	c.3051G>A	c.(3049-3051)ATG>ATA	p.M1017I		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1017	Ig-like 4.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AATGCAAGATGCATTTCGATG	0.587													A	220332065	G	A	220332065	3	1	19	1	0	0	0	0	1	0	0	0	15035	1319	46	2	3101	2	SPEG	2	220332065	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	19102	220332065	22867308	511	14810											
SPEG	10290	broad.mit.edu	37	chr2	220336948	220336948	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cattcgaactgcggctttcaGatgtggtcccaggccctcca	10	14	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:220336948G>A	uc010fwg.2	+	15	3836	c.3836_splice	c.e15-1	p.D1279_splice		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus						muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCGGCTTTCAGATGTGGTCCC	0.662													A	220336948	G	A	220336948	5	1	19	1	0	0	0	0	0	0	1	0	15035	956	33	4	3905	4	SPEG	2	220336948	Splice_Site	SNP	G	TCGA-BR-4361-01A-01D-1158-08	4883	220336948	22862425	512	14811											
SPEG	10290	broad.mit.edu	37	chr2	220344792	220344792	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagccccagtactgccagTatggcacacctgagtttgta	11	11	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:220344792T>C	uc010fwg.2	+	25	5272	c.5272T>C	c.(5272-5274)TAT>CAT	p.Y1758H		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1758	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTACTGCCAGTATGGCACACC	0.607													C	220344792	T	C	220344792	3	2	19	1	0	0	0	0	1	0	0	0	15035	1638	57	3	5382	3	SPEG	2	220344792	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	7844	220344792	22854581	513	14812											
SPEG	10290	broad.mit.edu	37	chr2	220353309	220353309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcccccgggcgggcaagCggcacgccggtctctatgag	15	15	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:220353309C>T	uc010fwg.2	+	33	7948	c.7948C>T	c.(7948-7950)CGG>TGG	p.R2650W		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2650	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGCGGGCAAGCGGCACGCCGG	0.652													T	220353309	C	T	220353309	3	4	19	1	0	0	0	0	1	0	0	0	15035	759	27	1	8090	1	SPEG	2	220353309	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	8517	220353309	22846064	514	14813											
SPEG	10290	broad.mit.edu	37	chr2	220354353	220354353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccacgtcaccccaagtgaGcccaagcctttcgtccttga	7	17	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:220354353G>A	uc010fwg.2	+	36	8613	c.8613G>A	c.(8611-8613)GAG>GAA	p.E2871E		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2871	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCAAGTGAGCCCAAGCCTT	0.617													A	220354353	G	A	220354353	2	1	19	1	0	0	0	0	0	0	0	1	15035	962	34	2		2	SPEG	2	220354353	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1044	220354353	22845020	515	14814											
ACSL3	2181	broad.mit.edu	37	chr2	223806301	223806301	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtctggtgacagatgccTtcaagctgaaacgcaaagag	12	9	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:223806301T>C	uc002vni.2	+	17	2543	c.2092T>C	c.(2092-2094)TTC>CTC	p.F698L	ACSL3_uc002vnj.2_Missense_Mutation_p.F698L|ACSL3_uc002vnk.2_5'Flank	NM_004457	NP_004448	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	698	Cytoplasmic (Potential).				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			ovary(2)	2		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GACAGATGCCTTCAAGCTGAA	0.403			T	ETV1	prostate								C	223806301	T	C	223806301	3	2	19	1	0	0	0	0	1	0	0	0	178	1609	56	3	2146	3	ACSL3	2	223806301	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	3451948	223806301	19393072	516	14815											
DOCK10	55619	broad.mit.edu	37	chr2	225659763	225659763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgtggccatcaaaacagTccttatacgcttagtcaggt	9	10	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:225659763T>C	uc010fwz.1	-	45	5226	c.4987A>G	c.(4987-4989)ACT>GCT	p.T1663A	DOCK10_uc002vob.2_Missense_Mutation_p.T1657A|DOCK10_uc002voa.2_Missense_Mutation_p.T319A|DOCK10_uc002voc.2_Missense_Mutation_p.T517A	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1663	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ATCAAAACAGTCCTTATACGC	0.488													C	225659763	T	C	225659763	3	2	19	1	0	0	0	0	1	0	0	0	4685	1667	58	3	1621	3	DOCK10	2	225659763	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1853462	225659763	17539610	517	14816											
KIAA1486	57624	broad.mit.edu	37	chr2	226378131	226378131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgaaggaagttacgtggGcaaacatttccgcatgggat	12	9	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:226378131G>A	uc002voe.2	+	3	441	c.266G>A	c.(265-267)GGC>GAC	p.G89D	KIAA1486_uc010fxa.1_Intron	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	89										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		AGTTACGTGGGCAAACATTTC	0.498													A	226378131	G	A	226378131	3	1	19	1	0	0	0	0	1	0	0	0	8237	1203	42	2	272	2	KIAA1486	2	226378131	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	718368	226378131	16821242	518	14817											
KIAA1486	57624	broad.mit.edu	37	chr2	226447400	226447400	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtctacgctgtaccgaAcccagtctccccatggctac	7	19	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:226447400A>G	uc002voe.2	+	4	1442	c.1267A>G	c.(1267-1269)ACC>GCC	p.T423A	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.T193A	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	423	Pro-rich.									ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		GCTGTACCGAACCCAGTCTCC	0.662													G	226447400	A	G	226447400	3	3	19	1	0	0	0	0	1	0	0	0	8237	43	2	3	1277	3	KIAA1486	2	226447400	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	69269	226447400	16751973	519	14818											
IRS1	3667	broad.mit.edu	37	chr2	227663319	227663319	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttctcgttctcgtagtActcgaggcgcgccgggcccc	11	16	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:227663319A>G	uc002voh.3	-	1	188	c.136T>C	c.(136-138)TAC>CAC	p.Y46H		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	46	PH.|Mediates interaction with PHIP (By similarity).				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TTCTCGTAGTACTCGAGGCGC	0.627													G	227663319	A	G	227663319	3	3	19	1	0	0	0	0	1	0	0	0	7840	391	14	3	3596	3	IRS1	2	227663319	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1215919	227663319	15536054	520	14819											
TRIP12	9320	broad.mit.edu	37	chr2	230667172	230667172	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgttttacttgatgcattAcacctttataataacagaga	6	6	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:230667172A>G	uc002vpw.1	-	20	2886	c.2777T>C	c.(2776-2778)GTA>GCA	p.V926A	TRIP12_uc002vpx.1_Missense_Mutation_p.V974A|TRIP12_uc002vpy.1_Missense_Mutation_p.V656A|TRIP12_uc010zlz.1_Intron	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	926					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTGATGCATTACACCTTTATA	0.398													G	230667172	A	G	230667172	3	3	19	1	0	0	0	0	1	0	0	0	16553	391	14	3	3289	3	TRIP12	2	230667172	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3003853	230667172	12532201	521	14820											
TRIP12	9320	broad.mit.edu	37	chr2	230672544	230672544	+	Frame_Shift_Del	DEL	A	A	-													ttcaacatggtatcaactgcAaaaatgccttcttttggtaa							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:230672543_230672543CA>C	uc002vpx.1	-	16	2486	c.2377_2377TG>G	c.(2377-2379)gcafs	p.A793fs	TRIP12_uc021vxw.1_Frame_Shift_Del_p.A751fs|TRIP12_uc002vpy.1_Frame_Shift_Del_p.A448fs|TRIP12_uc002vpw.1_Frame_Shift_Del_p.A745fs|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Frame_Shift_Del_p.A751fs	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	745	WWE.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTATCAACTGCAAAAATGCCT	0.383													-	230672544	A	-	230672544	7	5	19	1	0	1	0	1	0	0	0	0	16553	127	5	0	3850	0	TRIP12	2	230672544	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	5372	230672544	12526829	522	14821											
SP110	3431	broad.mit.edu	37	chr2	231042294	231042294	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattccttcacaacgtataTtccgtttccagttctttgcg	5	12	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:231042294T>C	uc002vqh.3	-	14	1790	c.1550A>G	c.(1549-1551)AAT>AGT	p.N517S	SP110_uc002vqg.3_Missense_Mutation_p.N517S|SP110_uc002vqi.3_Missense_Mutation_p.N517S|SP110_uc010fxk.2_Missense_Mutation_p.N515S|SP110_uc010fxj.2_Missense_Mutation_p.N160S	NM_004509	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform a	517	SAND.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		ACAACGTATATTCCGTTTCCA	0.433													C	231042294	T	C	231042294	3	2	19	1	0	0	0	0	1	0	0	0	14961	1493	52	3	679	3	SP110	2	231042294	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	369750	231042294	12157079	523	14822											
SP140	11262	broad.mit.edu	37	chr2	231112772	231112772	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccaagagagtccagagggaaGagacaaaggtaggaacagaa	14	6	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:231112772G>C	uc002vql.2	+	8	999	c.884G>C	c.(883-885)AGA>ACA	p.R295T	SP140_uc010zma.1_Intron|SP140_uc002vqk.2_Missense_Mutation_p.R295T|SP140_uc002vqn.2_Intron|SP140_uc002vqm.2_Missense_Mutation_p.R269T|SP140_uc010fxl.2_Missense_Mutation_p.R295T	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	295					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCAGAGGGAAGAGACAAAGGT	0.512													C	231112772	G	C	231112772	3	2	19	1	0	0	0	0	1	0	0	0	14962	942	33	5	1031	5	SP140	2	231112772	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	70478	231112772	12086601	524	14823											
GPR55	9290	broad.mit.edu	37	chr2	231774792	231774792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggccctgatgttcatgcGgaattctttgatgacaaagt	12	7	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:231774792G>A	uc002vrg.2	-	2	1079	c.886C>T	c.(886-888)CGC>TGC	p.R296C	GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.R296C	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	296	Cytoplasmic (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		ATGTTCATGCGGAATTCTTTG	0.532													A	231774792	G	A	231774792	3	1	19	1	0	0	0	0	1	0	0	0	6699	1116	39	1	77	1	GPR55	2	231774792	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	662020	231774792	11424581	525	14824											
GPR55	9290	broad.mit.edu	37	chr2	231774894	231774894	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagctgatgctctgcttggCtctgcactctacgataaagc	10	11	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:231774894C>A	uc002vrg.2	-	2	977	c.784G>T	c.(784-786)GCC>TCC	p.A262S	GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.A262S	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	262	Extracellular (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		CTCTGCTTGGCTCTGCACTCT	0.502													A	231774894	C	A	231774894	3	1	19	1	0	0	0	0	1	0	0	0	6699	797	28	5	179	5	GPR55	2	231774894	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	102	231774894	11424479	526	14825											
ECEL1	9427	broad.mit.edu	37	chr2	233347857	233347857	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgggtttcagcaggaagtcCgggtagccgaccatcaccat	12	12	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:233347857C>T	uc002vsv.2	-	9	1744	c.1539G>A	c.(1537-1539)CCG>CCA	p.P513P	ECEL1_uc010fya.1_Silent_p.P513P|ECEL1_uc010fyb.1_Silent_p.P220P	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	513	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCAGGAAGTCCGGGTAGCCGA	0.657													T	233347857	C	T	233347857	2	4	19	1	0	0	0	0	0	0	0	1	4891	639	23	1		1	ECEL1	2	233347857	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1572963	233347857	9851516	527	14826											
DNAJB3	414061	broad.mit.edu	37	chr2	234652351	234652351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagccgccctccgcccccGcctcgccatagcggtcatag	10	20	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:234652351G>A	uc002vuz.2	-	1	311	c.212C>T	c.(211-213)GCG>GTG	p.A71V	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 3	71					protein folding		heat shock protein binding|unfolded protein binding				0						CTCCGCCCCCGCCTCGCCATA	0.627													A	234652351	G	A	234652351	3	1	19	1	0	0	0	0	1	0	0	0	4621	1087	38	1	229	1	DNAJB3	2	234652351	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1304494	234652351	8547022	528	14827											
AGAP1	116987	broad.mit.edu	37	chr2	236877258	236877258	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagccgacggcctgtccggcActgctgaaggtaagggttcc	14	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:236877258A>G	uc002vvs.2	+	13	2231	c.1636A>G	c.(1636-1638)ACT>GCT	p.T546A	AGAP1_uc002vvt.2_Missense_Mutation_p.T493A	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	546	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						CCTGTCCGGCACTGCTGAAGG	0.557													G	236877258	A	G	236877258	3	3	19	1	0	0	0	0	1	0	0	0	366	159	6	3	1686	3	AGAP1	2	236877258	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2224907	236877258	6322115	529	14828											
GBX2	2637	broad.mit.edu	37	chr2	237076119	237076119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgcaccgtctcggccgCggagaaggcgagcagcgagc	16	14	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:237076119C>T	uc002vvw.1	-	1	534	c.496G>A	c.(496-498)GCG>ACG	p.A166T	GBX2_uc010zng.1_Missense_Mutation_p.A156T	NM_001485	NP_001476	P52951	GBX2_HUMAN	gastrulation brain homeo box 2	166				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GTCTCGGCCGCGGAGAAGGCG	0.756													T	237076119	C	T	237076119	3	4	19	1	0	0	0	0	1	0	0	0	6281	768	27	1	558	1	GBX2	2	237076119	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	198861	237076119	6123254	530	14829											
IQCA1	79781	broad.mit.edu	37	chr2	237405943	237405943	+	Frame_Shift_Del	DEL	G	G	-													cctgatcagtattcgtttctGggggtggacgaactggtcgt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:237405942_237405942TG>T	uc002vwb.2	-	1	255	c.221_221CA>A	c.(220-222)cagfs	p.Q74fs	IQCA1_uc002vvz.1_Frame_Shift_Del_p.Q67fs|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Frame_Shift_Del_p.Q67fs	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	67							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TATTCGTTTCTGGGGGTGGAC	0.473													-	237405943	G	-	237405943	7	5	19	1	0	1	0	1	0	0	0	0	7802	1357	47	0	2341	0	IQCA1	2	237405943	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	329824	237405943	5793430	531	14830											
COL6A3	1293	broad.mit.edu	37	chr2	238285437	238285437	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctggtgctccgttgtgCactgattttaagagattcac	12	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:238285437C>T	uc002vwl.2	-	7	3333	c.3048G>A	c.(3046-3048)GTG>GTA	p.V1016V	COL6A3_uc002vwo.2_Silent_p.V810V|COL6A3_uc010znj.1_Silent_p.V409V|COL6A3_uc002vwq.2_Silent_p.V810V|COL6A3_uc002vwr.2_Silent_p.V609V|COL6A3_uc010znk.1_Silent_p.V816V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1016	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCCGTTGTGCACTGATTTTA	0.498													T	238285437	C	T	238285437	2	4	19	1	0	0	0	0	0	0	0	1	3701	697	25	2		2	COL6A3	2	238285437	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	879494	238285437	4913936	532	14831											
RBM44	375316	broad.mit.edu	37	chr2	238725990	238725990	+	Frame_Shift_Del	DEL	T	T	-													agtgcagaaaaaagaggaggTtttttttaatattttggaac							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:238725990delT	uc002vxi.3	+	3	563	c.431delT	c.(430-432)GTTfs	p.V144fs		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	143							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AAAGAGGAGGTTTTTTTTAAT	0.308													-	238725990	T	-	238725990	7	5	19	1	0	1	0	1	0	0	0	0	13138	1725	60	0	437	0	RBM44	2	238725990	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	440553	238725990	4473383	533	14832											
PER2	8864	broad.mit.edu	37	chr2	239162209	239162209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaccagcgggggccgggCggacacgggccccccagatc	16	18	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:239162209C>T	uc002vyc.2	-	19	2692	c.2455G>A	c.(2455-2457)GCC>ACC	p.A819T	PER2_uc010znv.1_Missense_Mutation_p.A819T	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	819					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGGGGCCGGGCGGACACGGGC	0.617													T	239162209	C	T	239162209	3	4	19	1	0	0	0	0	1	0	0	0	11730	768	27	1	1332	1	PER2	2	239162209	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	436219	239162209	4037164	534	14833											
HDAC4	9759	broad.mit.edu	37	chr2	239976501	239976501	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtttgcattgggtctttgcTgtaaaaccttttctgggaga	11	7	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:239976501T>C	uc002vyk.3	-	25	3809	c.3017A>G	c.(3016-3018)CAG>CGG	p.Q1006R	HDAC4_uc010fyy.2_Missense_Mutation_p.Q963R	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	1006	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGGTCTTTGCTGTAAAACCTT	0.498													C	239976501	T	C	239976501	3	2	19	1	0	0	0	0	1	0	0	0	7009	1580	55	3	249	3	HDAC4	2	239976501	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	814292	239976501	3222872	535	14834											
HDAC4	9759	broad.mit.edu	37	chr2	240002823	240002823	+	Frame_Shift_Del	DEL	G	G	-													aagtactcagcgtctcccatGggggggtccaggccgccggt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:240002823delG	uc002vyk.3	-	22	3495	c.2703delC	c.(2701-2703)CCCfs	p.P901fs	HDAC4_uc010fyy.2_Frame_Shift_Del_p.P858fs	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	901	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CGTCTCCCATGGGGGGGTCCA	0.602													-	240002823	G	-	240002823	7	5	19	1	0	1	0	1	0	0	0	0	7009	1335	47	0	575	0	HDAC4	2	240002823	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	26322	240002823	3196550	536	14835											
OR6B2	389090	broad.mit.edu	37	chr2	240969231	240969231	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caggagcggaaacaccaggaTgatgaaggccaggatgaaat	14	7	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:240969231T>A	uc002vyr.2	-	2	662	c.616A>T	c.(616-618)ATC>TTC	p.I206F	OR6B2_uc010zoc.1_Missense_Mutation_p.I206F	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B,	206	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		AACACCAGGATGATGAAGGCC	0.577													A	240969231	T	A	240969231	3	1	19	1	0	0	0	0	1	0	0	0	11188	1464	51	5	324	5	OR6B2	2	240969231	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	966408	240969231	2230142	537	14836											
GPR35	2859	broad.mit.edu	37	chr2	241569510	241569510	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctctgggtgttctgctgCcgcatgcagcagtggacgga	16	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:241569510C>T	uc002vzs.1	+	1	716	c.141C>T	c.(139-141)TGC>TGT	p.C47C	GPR35_uc010fzh.1_Silent_p.C78C|GPR35_uc010fzi.1_Silent_p.C78C	NM_005301	NP_005292	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	47	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(2)|pancreas(1)	3		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TGTTCTGCTGCCGCATGCAGC	0.652													T	241569510	C	T	241569510	2	4	19	1	0	0	0	0	0	0	0	1	6690	747	26	2		2	GPR35	2	241569510	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	600279	241569510	1629863	538	14837											
PASK	23178	broad.mit.edu	37	chr2	242046073	242046073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccacaaagctcctgagCctgggccacatcactcaggc	9	18	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:242046073C>T	uc002wao.1	-	18	3972	c.3880G>A	c.(3880-3882)GCT>ACT	p.A1294T	PASK_uc010zol.1_Missense_Mutation_p.A1108T|PASK_uc010zom.1_Missense_Mutation_p.A1259T|PASK_uc010fzl.1_Missense_Mutation_p.A1301T|PASK_uc010zon.1_Missense_Mutation_p.A1075T	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1294					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGCTCCTGAGCCTGGGCCACA	0.572													T	242046073	C	T	242046073	3	4	19	1	0	0	0	0	1	0	0	0	11472	739	26	2	95	2	PASK	2	242046073	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	476563	242046073	1153300	539	14838											
HDLBP	3069	broad.mit.edu	37	chr2	242178074	242178075	+	Frame_Shift_Del	DEL	CT	CT	-													ggggacccacctgcgttctcCtctctgtctgggaatttaat							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:242178074_242178075delCT	uc002waz.2	-	20	2966_2967	c.2738_2739delAG	c.(2737-2739)GAGfs	p.E913fs	HDLBP_uc002wba.2_Frame_Shift_Del_p.E913fs|HDLBP_uc002wbb.2_Frame_Shift_Del_p.E865fs	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	913	KH 11.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTGCGTTCTCCTCTCTGTCTGG	0.52													-	242178075	CT	-	242178074	7	5	19	1	0	1	0	1	0	0	0	0	7025	680	24	0	1103	0	HDLBP	2	242178074	Frame_Shift_Del	DEL	CT	TCGA-BR-4361-01A-01D-1158-08	132001	242178074	1021299	540	14839											
HDLBP	3069	broad.mit.edu	37	chr2	242186183	242186183	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttaccaggtctttctgaataGacagaatcctgctccgggca	9	11	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:242186183G>A	uc002waz.2	-	16	2162	c.1934C>T	c.(1933-1935)TCT>TTT	p.S645F	HDLBP_uc002wba.2_Missense_Mutation_p.S645F|HDLBP_uc002wbb.2_Missense_Mutation_p.S597F	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	645	KH 7.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TTTCTGAATAGACAGAATCCT	0.473													A	242186183	G	A	242186183	3	1	19	1	0	0	0	0	1	0	0	0	7025	942	33	4	1924	4	HDLBP	2	242186183	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	8109	242186183	1013190	541	14840											
THAP4	51078	broad.mit.edu	37	chr2	242524084	242524084	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attggctgtgtcgtggttgcCatggagaccgtctgctcaag	14	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:242524084C>A	uc002wbt.2	-	6	1894	c.1671G>T	c.(1669-1671)ATG>ATT	p.M557I	THAP4_uc002wbs.2_Missense_Mutation_p.M145I	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	THAP domain containing 4 isoform 1	557							DNA binding|metal ion binding				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TCGTGGTTGCCATGGAGACCG	0.507													A	242524084	C	A	242524084	3	1	19	1	0	0	0	0	1	0	0	0	15843	594	21	5	66	5	THAP4	2	242524084	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	337901	242524084	675289	542	14841											
THAP4	51078	broad.mit.edu	37	chr2	242573292	242573292	+	Frame_Shift_Del	DEL	C	C	-													ggtgcggccatggcctccagCccccctcttcttctcggtca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:242573291_242573291GC>G	uc002wbt.3	-	1	574	c.281_281GC>C	c.(280-282)gctfs	p.A94fs		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.	94							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		ATGGCCTCCAGCCCCCCTCTT	0.637													-	242573292	C	-	242573292	7	5	19	1	0	1	0	1	0	0	0	0	15843	739	26	0	1481	0	THAP4	2	242573292	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	49208	242573292	626081	543	14842											
PDCD1	5133	broad.mit.edu	37	chr2	242794422	242794422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcccagcaggccgcccaCgacaccaaccaccagggttt	10	18	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:242794422C>T	uc002wcq.3	-	3	588	c.520G>A	c.(520-522)GTG>ATG	p.V174M	PDCD1_uc010fzs.2_Intron|PDCD1_uc010fzt.2_RNA	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	programmed cell death 1 precursor	174	Helical; (Potential).				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			ovary(1)	1		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		AGGCCGCCCACGACACCAACC	0.682													T	242794422	C	T	242794422	3	4	19	1	0	0	0	0	1	0	0	0	11615	536	19	1	358	1	PDCD1	2	242794422	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	221130	242794422	404951	544	14843											
CRBN	51185	broad.mit.edu	37	chr3	3209403	3209403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atatctggcacttattgaggGattctaattgaactgcagac	9	7	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:3209403G>A	uc003bpq.2	-	5	621	c.602C>T	c.(601-603)TCC>TTC	p.S201F	CRBN_uc003bpr.2_Missense_Mutation_p.S200F|CRBN_uc010hbw.2_Missense_Mutation_p.S201F|CRBN_uc011aso.1_Missense_Mutation_p.S138F	NM_016302	NP_057386	Q96SW2	CRBN_HUMAN	cereblon	201	Lon.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			ovary(1)	1				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		CTTATTGAGGGATTCTAATTG	0.383													A	3209403	G	A	3209403	3	1	19	1	0	0	0	0	1	0	0	0	3851	1174	41	4	754	4	CRBN	3	3209403	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08		3209403	194813027	545	14844											
SETMAR	6419	broad.mit.edu	37	chr3	4355148	4355148	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccgaattgactcaatggtAcctaagttggcactttttgc	9	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:4355148A>G	uc011asp.1	+	2	790	c.723A>G	c.(721-723)GTA>GTG	p.V241V	SUMF1_uc003bps.1_Intron|SETMAR_uc003bpw.3_Silent_p.V228V|SETMAR_uc003bpy.3_Intron|SETMAR_uc011asq.1_Intron|SETMAR_uc011asr.1_Intron|SETMAR_uc010hbx.2_Silent_p.V36V	NM_006515	NP_006506	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion	228	SET.|Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			ovary(1)	1		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		ACTCAATGGTACCTAAGTTGG	0.363								Chromatin_Structure|Direct_reversal_of_damage					G	4355148	A	G	4355148	2	3	19	1	0	0	0	0	0	0	0	1	14140	378	14	3		3	SETMAR	3	4355148	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1145745	4355148	193667282	546	14845											
ITPR1	3708	broad.mit.edu	37	chr3	4715002	4715002	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtggaccgagatccccAggaacaagtcacccccgtga	11	14	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:4715002A>G	uc003bqa.2	+	21	2735	c.2387A>G	c.(2386-2388)CAG>CGG	p.Q796R	ITPR1_uc010hca.1_Missense_Mutation_p.Q781R|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.Q781R	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	796	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CGAGATCCCCAGGAACAAGTC	0.567													G	4715002	A	G	4715002	3	3	19	1	0	0	0	0	1	0	0	0	7920	188	7	3	2461	3	ITPR1	3	4715002	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	359854	4715002	193307428	547	14846											
RAD18	56852	broad.mit.edu	37	chr3	8977591	8977591	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcatcgcattgggcattgtAcatgtgtacaaattcttggt	10	7	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:8977591A>G	uc003brd.2	-	7	930	c.853T>C	c.(853-855)TAC>CAC	p.Y285H	RAD18_uc003bre.2_RNA	NM_020165	NP_064550	Q9NS91	RAD18_HUMAN	postreplication repair protein hRAD18p	285					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			skin(3)|ovary(2)	5				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TGGGCATTGTACATGTGTACA	0.343								Rad6_pathway					G	8977591	A	G	8977591	3	3	19	1	0	0	0	0	1	0	0	0	12980	391	14	3	662	3	RAD18	3	8977591	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	4262589	8977591	189044839	548	14847											
SRGAP3	9901	broad.mit.edu	37	chr3	9027593	9027593	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgcaactcgtgcagagcCgtgctcatggtcttctcgat	10	14	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:9027593C>T	uc003brf.1	-	22	3586	c.2910G>A	c.(2908-2910)ACG>ACA	p.T970T	SRGAP3_uc003brg.1_Silent_p.T946T	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	970	Potential.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CGTGCAGAGCCGTGCTCATGG	0.622			T	RAF1	pilocytic astrocytoma								T	9027593	C	T	9027593	2	4	19	1	0	0	0	0	0	0	0	1	15146	639	23	1		1	SRGAP3	3	9027593	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	50002	9027593	188994837	549	14848											
TADA3	10474	broad.mit.edu	37	chr3	9831567	9831567	+	Frame_Shift_Del	DEL	G	G	-													ttcttgggcttcccatgtttGgggggagctccaagttcatg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:9831566_9831566TG>T	uc003bsx.1	-	2	837	c.289_289CA>A	c.(289-291)aaafs	p.K97fs	TADA3_uc010hcn.1_Frame_Shift_Del_p.K97fs|TADA3_uc003bsy.3_Frame_Shift_Del_p.K97fs|TTLL3_uc003btb.2_5'Flank|TTLL3_uc003bta.2_5'Flank|TTLL3_uc003bsz.2_5'Flank|TTLL3_uc003btd.4_5'Flank|TTLL3_uc003btc.2_5'Flank	NM_006354	NP_006345	O75528	TADA3_HUMAN	Homo sapiens transcriptional adaptor 3 (TADA3), transcript variant 1, mRNA.	97					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						TTCCCATGTTTGGGGGGAGCT	0.542													-	9831567	G	-	9831567	7	5	19	1	0	1	0	1	0	0	0	0	15509	1335	47	0	1042	0	TADA3	3	9831567	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	803974	9831567	188190863	550	14849											
FANCD2	2177	broad.mit.edu	37	chr3	10106464	10106464	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggactggaagaatacgacacTcaggatgggattgccataaa	12	7	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:10106464T>C	uc003buw.2	+	23	2151	c.2073T>C	c.(2071-2073)ACT>ACC	p.T691T	FANCD2_uc003bux.1_Silent_p.T691T|FANCD2_uc003buy.1_Silent_p.T691T|FANCD2_uc010hcw.1_RNA	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	691					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AATACGACACTCAGGATGGGA	0.498			D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				C	10106464	T	C	10106464	2	2	19	1	0	0	0	0	0	0	0	1	5665	1538	54	3		3	FANCD2	3	10106464	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	274897	10106464	187915966	551	14850											
IRAK2	3656	broad.mit.edu	37	chr3	10242142	10242142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagcttctgtaagaaagGctgaggatgaacaggaagag	15	5	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:10242142G>A	uc003bve.1	+	3	443	c.367G>A	c.(367-369)GCT>ACT	p.A123T		NM_001570	NP_001561	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	123					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			lung(5)|breast(3)	8						TGTAAGAAAGGCTGAGGATGA	0.458													A	10242142	G	A	10242142	3	1	19	1	0	0	0	0	1	0	0	0	7823	1203	42	2	377	2	IRAK2	3	10242142	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	135678	10242142	187780288	552	14851											
TATDN2	9797	broad.mit.edu	37	chr3	10291121	10291123	+	In_Frame_Del	DEL	CTC	CTC	-													tcatcccgccgcagaaataaCtcctcctcctccttctcccc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:10291120_10291122ACTC>A	uc011atr.2	+	1	817_819	c.236_238ACTC>A	c.(235-240)aactcc>aAcc	p.S83del	TATDN2_uc003bvg.2_In_Frame_Del_p.S83del|TATDN2_uc003bvf.3_In_Frame_Del_p.S83del|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	83						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CGCAGAAATAACTCCTCCTCCTC	0.631													-	10291123	CTC	-	10291121	7	5	19	1	0	1	0	1	0	0	0	0	15589	564	20	0	239	0	TATDN2	3	10291121	In_Frame_Del	DEL	CTC	TCGA-BR-4361-01A-01D-1158-08	48979	10291121	187731309	553	14852											
SLC6A11	6538	broad.mit.edu	37	chr3	10976880	10976880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagacggaggggacactgCccgaggtgagaccgccccag	17	12	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:10976880C>T	uc003bvz.2	+	13	1775	c.1741C>T	c.(1741-1743)CCC>TCC	p.P581S		NM_014229	NP_055044	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter	581	Cytoplasmic (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GGGGACACTGCCCGAGGTGAG	0.647													T	10976880	C	T	10976880	3	4	19	1	0	0	0	0	1	0	0	0	14674	739	26	2	1791	2	SLC6A11	3	10976880	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	685759	10976880	187045550	554	14853											
RAF1	5894	broad.mit.edu	37	chr3	12645681	12645681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtggtgctgaccatgtggAcattaggtgtggatgtcgac	17	6	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:12645681A>G	uc003bxf.3	-	7	1203	c.788T>C	c.(787-789)GTC>GCC	p.V263A	RAF1_uc011aut.1_Missense_Mutation_p.V48A|RAF1_uc011auu.1_Missense_Mutation_p.V181A	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	263			V -> A (in NS5; shows in vitro greater kinase activity and enhanced MAPK1 activation than wild-type).		activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)	GACCATGTGGACATTAGGTGT	0.522			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome				G	12645681	A	G	12645681	3	3	19	1	0	0	0	0	1	0	0	0	13002	275	10	3	1202	3	RAF1	3	12645681	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1668801	12645681	185376749	555	14854											
RAF1	5894	broad.mit.edu	37	chr3	12647712	12647712	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaattacctaacaggcatcCtggaaacagactctcgcata	6	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:12647712C>A	uc003bxf.3	-	6	1083	c.668G>T	c.(667-669)AGG>ATG	p.R223M	RAF1_uc011aut.1_Intron|RAF1_uc011auu.1_Missense_Mutation_p.R141M	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	223					activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)	AACAGGCATCCTGGAAACAGA	0.398			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome				A	12647712	C	A	12647712	3	1	19	1	0	0	0	0	1	0	0	0	13002	681	24	5	1326	5	RAF1	3	12647712	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2031	12647712	185374718	556	14855											
NUP210	23225	broad.mit.edu	37	chr3	13372083	13372083	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaacatgcacaactggAaccttttcgggtccatccag	7	13	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:13372083A>G	uc003bxv.1	-	30	4070	c.3987T>C	c.(3985-3987)GTT>GTC	p.V1329V		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1329	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					GCACAACTGGAACCTTTTCGG	0.512													G	13372083	A	G	13372083	2	3	19	1	0	0	0	0	0	0	0	1	10760	233	9	3		3	NUP210	3	13372083	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	724371	13372083	184650347	557	14856											
NUP210	23225	broad.mit.edu	37	chr3	13381417	13381417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacgagcccagacacagtGccgttcccgatggcgaggcc	13	15	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:13381417G>A	uc003bxv.1	-	25	3491	c.3408C>T	c.(3406-3408)GGC>GGT	p.G1136G		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1136	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					CAGACACAGTGCCGTTCCCGA	0.438													A	13381417	G	A	13381417	2	1	19	1	0	0	0	0	0	0	0	1	10760	1306	46	2		2	NUP210	3	13381417	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	9334	13381417	184641013	558	14857											
WNT7A	7476	broad.mit.edu	37	chr3	13860879	13860879	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgcacgagcctgacacGccgtggcacttacattccag	12	13	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:13860879G>A	uc003bye.1	-	4	917	c.612C>T	c.(610-612)GGC>GGT	p.G204G		NM_004625	NP_004616	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family,	204					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			ovary(2)|breast(1)	3						AGCCTGACACGCCGTGGCACT	0.602													A	13860879	G	A	13860879	2	1	19	1	0	0	0	0	0	0	0	1	17391	1074	38	1		1	WNT7A	3	13860879	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	479462	13860879	184161551	559	14858											
SLC6A6	6533	broad.mit.edu	37	chr3	14487330	14487330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgaagggggcatcacctGctgggaaaagatctgcccct	12	12	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:14487330G>A	uc010heg.2	+	11	626	c.335G>A	c.(334-336)TGC>TAC	p.C112Y	SLC6A6_uc003byp.2_Missense_Mutation_p.C112Y|SLC6A6_uc010hef.1_RNA|SLC6A6_uc003byq.2_Missense_Mutation_p.C112Y|SLC6A6_uc003byr.2_RNA	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter	112					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			ovary(1)	1						GGCATCACCTGCTGGGAAAAG	0.423													A	14487330	G	A	14487330	3	1	19	1	0	0	0	0	1	0	0	0	14688	1319	46	2	341	2	SLC6A6	3	14487330	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	626451	14487330	183535100	560	14859											
ZFYVE20	64145	broad.mit.edu	37	chr3	15124104	15124104	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggactccttgctggcacTggtgagcttgtctgtaacca	12	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:15124104T>C	uc003bzm.1	-	9	1224	c.610A>G	c.(610-612)AGT>GGT	p.S204G	ZFYVE20_uc010hek.1_Missense_Mutation_p.S204G|ZFYVE20_uc011avn.1_Intron	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	204	FYVE-type.|Ser-rich.|Necessary for the correct targeting to endosomes.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						TTGCTGGCACTGGTGAGCTTG	0.577													C	15124104	T	C	15124104	3	2	19	1	0	0	0	0	1	0	0	0	17663	1580	55	3	1768	3	ZFYVE20	3	15124104	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	636774	15124104	182898326	561	14860											
RFTN1	23180	broad.mit.edu	37	chr3	16399539	16399539	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgaatactccatctgtcAagccatgtaaggaatctgtg	9	8	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:16399539A>G	uc003cay.2	-	7	1328	c.1046T>C	c.(1045-1047)TTG>TCG	p.L349S	RFTN1_uc010hes.2_Missense_Mutation_p.L313S	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	349						plasma membrane				ovary(3)|central_nervous_system(1)	4						TCCATCTGTCAAGCCATGTAA	0.458													G	16399539	A	G	16399539	3	3	19	1	0	0	0	0	1	0	0	0	13258	131	5	3	706	3	RFTN1	3	16399539	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1275435	16399539	181622891	562	14861											
SATB1	6304	broad.mit.edu	37	chr3	18393499	18393499	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaacctgaatctgctctgcTggaacatggataatgtgggg	13	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:18393499T>C	uc003cbh.2	-	10	3499	c.1764A>G	c.(1762-1764)CCA>CCG	p.P588P	SATB1_uc003cbi.2_Silent_p.P588P|SATB1_uc003cbj.2_Silent_p.P588P	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	588					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						TCTGCTCTGCTGGAACATGGA	0.463													C	18393499	T	C	18393499	2	2	19	1	0	0	0	0	0	0	0	1	13853	1567	55	3		3	SATB1	3	18393499	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1993960	18393499	179628931	563	14862											
KCNH8	131096	broad.mit.edu	37	chr3	19554757	19554757	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccataataaaaggaaagagaAgaacttgaaattgcaacttt	7	5	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:19554757A>G	uc003cbk.1	+	13	2570	c.2375A>G	c.(2374-2376)AAG>AGG	p.K792R	KCNH8_uc010hex.1_Missense_Mutation_p.K253R	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	792	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						AGGAAAGAGAAGAACTTGAAA	0.448													G	19554757	A	G	19554757	3	3	19	1	0	0	0	0	1	0	0	0	8038	72	3	3	2425	3	KCNH8	3	19554757	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1161258	19554757	178467673	564	14863											
RARB	5915	broad.mit.edu	37	chr3	25637960	25637960	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaattcctggatcaatgccAcctctcattcaagaaatgct	6	11	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:25637960A>G	uc011awl.1	+	8	1287	c.1221A>G	c.(1219-1221)CCA>CCG	p.P407P	RARB_uc003cdi.1_Silent_p.P288P|RARB_uc003cdh.2_Silent_p.P400P	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	407	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GATCAATGCCACCTCTCATTC	0.423													G	25637960	A	G	25637960	2	3	19	1	0	0	0	0	0	0	0	1	13053	146	6	3		3	RARB	3	25637960	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	6083203	25637960	172384470	565	14864											
TOP2B	7155	broad.mit.edu	37	chr3	25665877	25665877	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaataggctgaagcaagttAatgttgttacttcccacaaa	7	9	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:25665877A>G	uc011awn.1	-	20	2449	c.2406T>C	c.(2404-2406)ATT>ATC	p.I802I	TOP2B_uc003cdj.2_Silent_p.I797I	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	802					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						GAAGCAAGTTAATGTTGTTAC	0.373													G	25665877	A	G	25665877	2	3	19	1	0	0	0	0	0	0	0	1	16363	358	13	3		3	TOP2B	3	25665877	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	27917	25665877	172356553	566	14865											
OXSM	54995	broad.mit.edu	37	chr3	25835717	25835717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatctcttcaaagaccatgCatatgcccttgcagtttcct	5	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:25835717C>T	uc003cdn.2	+	3	1219	c.1112C>T	c.(1111-1113)GCA>GTA	p.A371V	OXSM_uc011awp.1_Missense_Mutation_p.A96V|OXSM_uc010hfh.2_Missense_Mutation_p.A288V	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial isoform 1	371					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			ovary(1)|breast(1)	2						AAAGACCATGCATATGCCCTT	0.463													T	25835717	C	T	25835717	3	4	19	1	0	0	0	0	1	0	0	0	11335	710	25	2	1118	2	OXSM	3	25835717	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	169840	25835717	172186713	567	14866											
LRRC3B	116135	broad.mit.edu	37	chr3	26751767	26751767	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaacctccctaaaaaaactAccgattatgccatgctggtc	6	12	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:26751767A>G	uc003cdp.2	+	2	1193	c.604A>G	c.(604-606)ACC>GCC	p.T202A	LRRC3B_uc003cdq.2_Missense_Mutation_p.T202A	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B precursor	202						integral to membrane				pancreas(2)|ovary(1)|skin(1)	4						TAAAAAAACTACCGATTATGC	0.468													G	26751767	A	G	26751767	3	3	19	1	0	0	0	0	1	0	0	0	8996	391	14	3	606	3	LRRC3B	3	26751767	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	916050	26751767	171270663	568	14867											
SLC4A7	9497	broad.mit.edu	37	chr3	27444675	27444675	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtgcatattaaatgcaTatgtttctcctaaatcaaag	6	6	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:27444675T>A	uc003cdv.2	-	15	2320	c.2249A>T	c.(2248-2250)TAT>TTT	p.Y750F	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.Y631F|SLC4A7_uc011aww.1_Missense_Mutation_p.Y759F|SLC4A7_uc011awx.1_Missense_Mutation_p.Y746F|SLC4A7_uc011awy.1_Missense_Mutation_p.Y742F|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.Y631F|SLC4A7_uc011axb.1_Missense_Mutation_p.Y746F|SLC4A7_uc010hfl.2_Missense_Mutation_p.Y300F|SLC4A7_uc003cdw.2_Missense_Mutation_p.Y626F	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	750	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						ATTAAATGCATATGTTTCTCC	0.338													A	27444675	T	A	27444675	3	1	19	1	0	0	0	0	1	0	0	0	14658	1406	49	5	1439	5	SLC4A7	3	27444675	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	692908	27444675	170577755	569	14868											
SLC4A7	9497	broad.mit.edu	37	chr3	27472885	27472885	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaattactactgtgggaaTatcatcactggcaggtgaaa	10	6	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:27472885T>C	uc003cdv.2	-	7	1098	c.1027A>G	c.(1027-1029)ATT>GTT	p.I343V	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_Intron|SLC4A7_uc003cdu.3_Intron|SLC4A7_uc011aww.1_Missense_Mutation_p.I352V|SLC4A7_uc011awx.1_Missense_Mutation_p.I339V|SLC4A7_uc011awy.1_Missense_Mutation_p.I335V|SLC4A7_uc011awz.1_Intron|SLC4A7_uc011axa.1_Intron|SLC4A7_uc011axb.1_Missense_Mutation_p.I339V|SLC4A7_uc010hfm.2_Intron|SLC4A7_uc003cdw.2_Intron	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	343	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						ACTGTGGGAATATCATCACTG	0.512													C	27472885	T	C	27472885	3	2	19	1	0	0	0	0	1	0	0	0	14658	1406	49	3	2693	3	SLC4A7	3	27472885	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	28210	27472885	170549545	570	14869											
ZCWPW2	152098	broad.mit.edu	37	chr3	28562525	28562525	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actaaaagagctggagcaaaTgctgcagcaagcactgcaac	10	10	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:28562525T>C	uc003ceh.2	+	9	995	c.827T>C	c.(826-828)ATG>ACG	p.M276T	ZCWPW2_uc003cei.2_Missense_Mutation_p.M276T|ZCWPW2_uc010hfo.2_Missense_Mutation_p.M81T	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	276							zinc ion binding			ovary(2)	2						CTGGAGCAAATGCTGCAGCAA	0.363													C	28562525	T	C	28562525	3	2	19	1	0	0	0	0	1	0	0	0	17595	1464	51	3	853	3	ZCWPW2	3	28562525	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1089640	28562525	169459905	571	14870											
GPD1L	23171	broad.mit.edu	37	chr3	32181767	32181767	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagctcatttctgacatcatCcgtgagaagatgggtattga	10	7	3	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:32181767C>T	uc003cew.2	+	4	474	c.414C>T	c.(412-414)ATC>ATT	p.I138I		NM_015141	NP_055956	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	138					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity				0						CTGACATCATCCGTGAGAAGA	0.512													T	32181767	C	T	32181767	2	4	19	1	0	0	0	0	0	0	0	1	6605	845	30	4		4	GPD1L	3	32181767	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3619242	32181767	165840663	572	14871											
DYNC1LI1	51143	broad.mit.edu	37	chr3	32586484	32586484	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtccaaggctttgacatgTcaacaaccagcataactaga	7	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:32586484T>C	uc003cfb.3	-	4	540	c.452A>G	c.(451-453)GAC>GGC	p.D151G	DYNC1LI1_uc011axh.1_Intron	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain	151					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			ovary(1)	1						CTTTGACATGTCAACAACCAG	0.393													C	32586484	T	C	32586484	3	2	19	1	0	0	0	0	1	0	0	0	4844	1667	58	3	1159	3	DYNC1LI1	3	32586484	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	404717	32586484	165435946	573	14872											
TRIM71	131405	broad.mit.edu	37	chr3	32859684	32859684	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgtcgtcctcctcgcagAcgtccacgtcgtcggggggc	14	16	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:32859684A>T	uc003cff.2	+	1	175	c.112A>T	c.(112-114)ACG>TCG	p.T38S		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	38	RING-type.|Ser-rich.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						CTCCTCGCAGACGTCCACGTC	0.527													T	32859684	A	T	32859684	3	4	19	1	0	0	0	0	1	0	0	0	16541	275	10	5	114	5	TRIM71	3	32859684	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	273200	32859684	165162746	574	14873											
TRIM71	131405	broad.mit.edu	37	chr3	32860312	32860312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcccgccgggtcccggtgCcgcagcagcggcgcagcagc	17	18	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:32860312C>T	uc003cff.2	+	1	803	c.740C>T	c.(739-741)GCC>GTC	p.A247V		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	247					multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						GGTCCCGGTGCCGCAGCAGCG	0.716													T	32860312	C	T	32860312	3	4	19	1	0	0	0	0	1	0	0	0	16541	739	26	2	742	2	TRIM71	3	32860312	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	628	32860312	165162118	575	14874											
TRIM71	131405	broad.mit.edu	37	chr3	32932496	32932496	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcttcggcagtgagggTgacagcgatggcaagctctg	16	9	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:32932496T>C	uc003cff.2	+	4	1863	c.1800T>C	c.(1798-1800)GGT>GGC	p.G600G		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	600	NHL 1.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						GCAGTGAGGGTGACAGCGATG	0.602													C	32932496	T	C	32932496	2	2	19	1	0	0	0	0	0	0	0	1	16541	1683	59	3		3	TRIM71	3	32932496	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	72184	32932496	165089934	576	14875											
ARPP21	10777	broad.mit.edu	37	chr3	35835235	35835235	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggactgccccagcagtcaTaccaacagccaatcatgcta	7	14	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:35835235T>C	uc003cgb.2	+	20	2488	c.2224T>C	c.(2224-2226)TAC>CAC	p.Y742H	ARPP21_uc003cga.2_Missense_Mutation_p.Y723H|ARPP21_uc011axy.1_Missense_Mutation_p.Y743H|ARPP21_uc003cgf.2_Missense_Mutation_p.Y578H|ARPP21_uc003cgg.2_Missense_Mutation_p.Y265H	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	742	Gln-rich.					cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						CCAGCAGTCATACCAACAGCC	0.498													C	35835235	T	C	35835235	3	2	19	1	0	0	0	0	1	0	0	0	978	1406	49	3	2307	3	ARPP21	3	35835235	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2902739	35835235	162187195	577	14876											
TRANK1	9881	broad.mit.edu	37	chr3	36884146	36884146	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcttggcgtagtaatctccCtgtgcaatccactccgcagg	10	13	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:36884146C>A	uc003cgj.2	-	8	3767	c.3465G>T	c.(3463-3465)CAG>CAT	p.Q1155H		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1705	TPR 3.				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						AGTAATCTCCCTGTGCAATCC	0.493													A	36884146	C	A	36884146	3	1	19	1	0	0	0	0	1	0	0	0	16451	680	24	5	3690	5	TRANK1	3	36884146	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1048911	36884146	161138284	578	14877											
EPM2AIP1	9852	broad.mit.edu	37	chr3	37034280	37034281	+	Frame_Shift_Del	DEL	CT	CT	-													cccgaggcctgcacgagcagCtctctcttcaggagtgaagg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:37034279_37034280GCT>G	uc003cgk.3	-	0	516_517	c.289_290AGC>C	c.(289-291)gctfs	p.A97fs	MLH1_uc011aye.2_5'Flank|MLH1_uc003cgl.3_5'Flank|MLH1_uc011ayb.2_5'Flank|MLH1_uc010hge.3_5'Flank|MLH1_uc011ayc.2_5'Flank|MLH1_uc011ayd.2_5'Flank|MLH1_uc003cgo.3_5'Flank|MLH1_uc003cgn.4_5'Flank	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN	Homo sapiens EPM2A (laforin) interacting protein 1 (EPM2AIP1), mRNA.	97						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TGCACGAGCAGCTCTCTCTTCA	0.649													-	37034281	CT	-	37034280	7	5	19	1	0	1	0	1	0	0	0	0	5184	797	28	0	1538	0	EPM2AIP1	3	37034280	Frame_Shift_Del	DEL	CT	TCGA-BR-4361-01A-01D-1158-08	150134	37034280	160988150	579	14878											
GOLGA4	2803	broad.mit.edu	37	chr3	37368396	37368396	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaggtacagaaagccaTttgagtgagctaaatacaaa	8	5	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:37368396T>C	uc003cgv.2	+	14	5323	c.5019T>C	c.(5017-5019)CAT>CAC	p.H1673H	GOLGA4_uc010hgr.1_Silent_p.H1234H|GOLGA4_uc003cgw.2_Silent_p.H1695H|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Silent_p.H1554H	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	1673	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						CAGAAAGCCATTTGAGTGAGC	0.343													C	37368396	T	C	37368396	2	2	19	1	0	0	0	0	0	0	0	1	6555	1490	52	3		3	GOLGA4	3	37368396	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	334116	37368396	160654034	580	14879											
VILL	50853	broad.mit.edu	37	chr3	38039625	38039626	+	Frame_Shift_Ins	INS	-	-	C													gtggtcctggagttggcgacINSccccccactgacccaggacc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:38039624_38039625A>AC	uc003chj.3	+	7	1094_1095	c.808_809A>AC	c.(808-810)accfs	p.T270fs	VILL_uc003chk.1_Frame_Shift_Ins_p.T270fs|VILL_uc003chl.3_Frame_Shift_Ins_p.T270fs|VILL_uc010hgu.3_Frame_Shift_Ins_p.T100fs	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	270					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGAGTTGGCGACCCCCCCACTG	0.644													C	38039626	-	C	38039625	7	5	19	1	0	1	1	0	0	0	0	0	17162	507	18	0	835	0	VILL	3	38039625	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	671229	38039625	159982805	581	14880											
EXOG	9941	broad.mit.edu	37	chr3	38565616	38565616	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttggatagaactagtgatatCcggaatatctgctctgtgga	11	6	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:38565616C>T	uc003cih.2	+	6	966	c.870C>T	c.(868-870)ATC>ATT	p.I290I	EXOG_uc010hhg.2_RNA|EXOG_uc011ayq.1_Silent_p.I240I|EXOG_uc003cij.2_Silent_p.I150I|EXOG_uc010hhd.2_Silent_p.I150I|EXOG_uc010hhe.2_Silent_p.I150I|EXOG_uc003cik.2_Silent_p.I150I|EXOG_uc010hhf.2_Silent_p.I150I|EXOG_uc003cii.2_Silent_p.I150I	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	290						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding				0						CTAGTGATATCCGGAATATCT	0.468													T	38565616	C	T	38565616	2	4	19	1	0	0	0	0	0	0	0	1	5312	845	30	4		4	EXOG	3	38565616	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	525991	38565616	159456814	582	14881											
SCN10A	6336	broad.mit.edu	37	chr3	38750970	38750970	+	Splice_Site	DEL	T	T	-													actcctgagcaccacttatcTtttttttctgttgattgaag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:38750969_38750969CT>C	uc003ciq.3	-	24	4281	c.4281_splice	c.e24+1	p.K1427_splice		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1427					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CACCACTTATCTTTTTTTTCT	0.413													-	38750970	T	-	38750970	8	5	19	1	0	1	0	1	0	0	1	0	13912	1623	56	0	1606	0	SCN10A	3	38750970	Splice_Site	DEL	T	TCGA-BR-4361-01A-01D-1158-08	185354	38750970	159271460	583	14882											
SCN10A	6336	broad.mit.edu	37	chr3	38781019	38781019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattaccaagcggaagctcCgcagcacagacaggcttccc	9	15	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:38781019C>T	uc003ciq.2	-	14	2267	c.2267G>A	c.(2266-2268)CGG>CAG	p.R756Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	756	Helical; Voltage-sensor; Name=S4 of repeat II; (Potential).|II.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCGGAAGCTCCGCAGCACAGA	0.522													T	38781019	C	T	38781019	3	4	19	1	0	0	0	0	1	0	0	0	13912	652	23	1	3659	1	SCN10A	3	38781019	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	30049	38781019	159241411	584	14883											
TTC21A	199223	broad.mit.edu	37	chr3	39156128	39156128	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggccctggaggtggtgaAccagatcactgtgacttcag	14	9	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:39156128A>G	uc003cjc.2	+	6	788	c.611A>G	c.(610-612)AAC>AGC	p.N204S	TTC21A_uc003cja.2_Missense_Mutation_p.N204S|TTC21A_uc010hho.1_Missense_Mutation_p.N126S|TTC21A_uc003cjb.2_Silent_p.E70E|TTC21A_uc003cje.2_Missense_Mutation_p.N204S|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.N163S	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	204	TPR 4.						binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAGGTGGTGAACCAGATCACT	0.552													G	39156128	A	G	39156128	3	3	19	1	0	0	0	0	1	0	0	0	16684	43	2	3	633	3	TTC21A	3	39156128	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	375109	39156128	158866302	585	14884											
TTC21A	199223	broad.mit.edu	37	chr3	39179775	39179775	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtcctgctacaaggcctaTgagtacatgggcttcatcat	9	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:39179775T>C	uc003cjc.2	+	27	3891	c.3714T>C	c.(3712-3714)TAT>TAC	p.Y1238Y	TTC21A_uc003cje.2_Silent_p.Y1239Y|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Silent_p.Y1190Y|TTC21A_uc003cjf.2_Silent_p.Y359Y	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	1238	TPR 18.						binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ACAAGGCCTATGAGTACATGG	0.567													C	39179775	T	C	39179775	2	2	19	1	0	0	0	0	0	0	0	1	16684	1471	51	3		3	TTC21A	3	39179775	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	23647	39179775	158842655	586	14885											
XIRP1	165904	broad.mit.edu	37	chr3	39228088	39228088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcactggactcgggtcaGccgggggctcccaccgcaga	15	15	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:39228088G>A	uc003cjk.1	-	2	3070	c.2849C>T	c.(2848-2850)GCT>GTT	p.A950V	XIRP1_uc003cji.2_Missense_Mutation_p.A950V|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	950							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACTCGGGTCAGCCGGGGGCTC	0.642													A	39228088	G	A	39228088	3	1	19	1	0	0	0	0	1	0	0	0	17426	971	34	2	2686	2	XIRP1	3	39228088	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	48313	39228088	158794342	587	14886											
MYRIP	25924	broad.mit.edu	37	chr3	40204292	40204292	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgattcaacattttataggCagtcagaaggtaaagttgct	10	5	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:40204292C>T	uc003cka.2	+	5	676	c.541C>T	c.(541-543)CAG>TAG	p.Q181*	MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Nonsense_Mutation_p.Q181*|MYRIP_uc010hhw.2_Nonsense_Mutation_p.Q92*|MYRIP_uc010hhx.1_Nonsense_Mutation_p.Q181*|MYRIP_uc011ayz.1_5'UTR	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	181	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		ATTTTATAGGCAGTCAGAAGG	0.463													T	40204292	C	T	40204292	4	4	19	1	0	0	0	0	0	1	0	0	10100	711	25	2	555	2	MYRIP	3	40204292	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	976204	40204292	157818138	588	14887											
MYRIP	25924	broad.mit.edu	37	chr3	40211476	40211476	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagcaaaagtgagcagcaAgtggaagaagagccaggatg	15	5	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:40211476A>C	uc003cka.2	+	8	900	c.765A>C	c.(763-765)CAA>CAC	p.Q255H	MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Missense_Mutation_p.Q255H|MYRIP_uc010hhw.2_Missense_Mutation_p.Q166H|MYRIP_uc011ayz.1_Missense_Mutation_p.Q68H	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	255	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GTGAGCAGCAAGTGGAAGAAG	0.542													C	40211476	A	C	40211476	3	2	19	1	0	0	0	0	1	0	0	0	10100	69	3	5	791	5	MYRIP	3	40211476	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	7184	40211476	157810954	589	14888											
ZNF662	389114	broad.mit.edu	37	chr3	42950328	42950328	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgatttcccagctggaGcgaggggaaacaccctggtg	14	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:42950328G>A	uc003cmi.2	+	3	430	c.78G>A	c.(76-78)GAG>GAA	p.E26E	ZNF662_uc003cmk.2_Silent_p.E86E|ZNF662_uc003cmj.2_5'UTR	NM_207404	NP_997287	Q6ZS27	ZN662_HUMAN	zinc finger protein 662 isoform 1	26	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CCCAGCTGGAGCGAGGGGAAA	0.572													A	42950328	G	A	42950328	2	1	19	1	0	0	0	0	0	0	0	1	18068	962	34	2		2	ZNF662	3	42950328	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2738852	42950328	155072102	590	14889											
SNRK	54861	broad.mit.edu	37	chr3	43390009	43390009	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaccctaaggaggggctgcTgtgcgcatccagcccagcca	13	14	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:43390009T>C	uc003cms.3	+	7	2590	c.2258T>C	c.(2257-2259)CTG>CCG	p.L753P	SNRK_uc003cmt.3_Missense_Mutation_p.L753P|SNRK_uc010hik.2_Missense_Mutation_p.L753P|SNRK_uc011azr.1_Missense_Mutation_p.L547P	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	SNF related kinase	753					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GAGGGGCTGCTGTGCGCATCC	0.562													C	43390009	T	C	43390009	3	2	19	1	0	0	0	0	1	0	0	0	14851	1580	55	3	2276	3	SNRK	3	43390009	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	439681	43390009	154632421	591	14890											
ZNF197	10168	broad.mit.edu	37	chr3	44685542	44685542	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaggcaaagaaaaaaccttActgtacatcagaaaatccac	5	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:44685542A>G	uc003cnm.2	+	6	3126	c.2920A>G	c.(2920-2922)ACT>GCT	p.T974A	ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	974	C2H2-type 22.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AAAAAACCTTACTGTACATCA	0.368													G	44685542	A	G	44685542	3	3	19	1	0	0	0	0	1	0	0	0	17756	391	14	3	2938	3	ZNF197	3	44685542	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1295533	44685542	153336888	592	14891											
ZNF35	7584	broad.mit.edu	37	chr3	44700874	44700874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgaatgtaatgaatgtgGgaaaacatttactaggagct	10	4	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:44700874G>A	uc003cnq.2	+	4	1240	c.1019G>A	c.(1018-1020)GGG>GAG	p.G340E	ZNF35_uc003cnr.2_Missense_Mutation_p.G180E	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	340	C2H2-type 5.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		AATGAATGTGGGAAAACATTT	0.453													A	44700874	G	A	44700874	3	1	19	1	0	0	0	0	1	0	0	0	17859	1232	43	4	1029	4	ZNF35	3	44700874	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	15332	44700874	153321556	593	14892											
KIAA1143	57456	broad.mit.edu	37	chr3	44795767	44795767	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcatgacttcttcaactgAcaggtctcccttttttaaaa	4	10	4	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:44795767A>G	uc011bac.1	-	2	281	c.202T>C	c.(202-204)TCA>CCA	p.S68P		NM_020696	NP_065747	Q96AT1	K1143_HUMAN	hypothetical protein LOC57456	68											0				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		TCTTCAACTGACAGGTCTCCC	0.428													G	44795767	A	G	44795767	3	3	19	1	0	0	0	0	1	0	0	0	8209	275	10	3	270	3	KIAA1143	3	44795767	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	94893	44795767	153226663	594	14893											
KIF15	56992	broad.mit.edu	37	chr3	44816918	44816918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgatcatgttgcagatgtgGataccactcaggtaatgata	10	6	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:44816918G>A	uc003cnx.3	+	3	384	c.235G>A	c.(235-237)GAT>AAT	p.D79N	KIF15_uc010hiq.2_5'UTR	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	79	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TGCAGATGTGGATACCACTCA	0.313													A	44816918	G	A	44816918	3	1	19	1	0	0	0	0	1	0	0	0	8277	1174	41	4	245	4	KIF15	3	44816918	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	21151	44816918	153205512	595	14894											
LRRC2	79442	broad.mit.edu	37	chr3	46580617	46580617	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataactgaatatatgtaggAatgatttgaatcaaggtatt	8	2	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:46580617A>G	uc010hji.2	-	4	772	c.408T>C	c.(406-408)ATT>ATC	p.I136I	LRRC2_uc003cpu.3_Silent_p.I136I	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	136	LRR 1.									ovary(1)	1		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TATATGTAGGAATGATTTGAA	0.383													G	46580617	A	G	46580617	2	3	19	1	0	0	0	0	0	0	0	1	8976	242	9	3		3	LRRC2	3	46580617	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1763699	46580617	151441813	596	14895											
PTPN23	25930	broad.mit.edu	37	chr3	47447981	47447981	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgttctcaggtggtagattActacaaggaggcatgccggg	14	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:47447981A>G	uc003crf.1	+	8	734	c.638A>G	c.(637-639)TAC>TGC	p.Y213C	PTPN23_uc011baw.1_Missense_Mutation_p.Y178C|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.Y83C	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	213	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTGGTAGATTACTACAAGGAG	0.582													G	47447981	A	G	47447981	3	3	19	1	0	0	0	0	1	0	0	0	12788	391	14	3	668	3	PTPN23	3	47447981	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	867364	47447981	150574449	597	14896											
SCAP	22937	broad.mit.edu	37	chr3	47461115	47461115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccaatgggctctgttccGtcacctgggcagcgaggtag	13	13	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:47461115G>A	uc003crh.1	-	13	1898	c.1643C>T	c.(1642-1644)ACG>ATG	p.T548M	SCAP_uc011baz.1_Missense_Mutation_p.T293M|SCAP_uc003crg.2_Missense_Mutation_p.T156M	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	548	Lumenal (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GCTCTGTTCCGTCACCTGGGC	0.652													A	47461115	G	A	47461115	3	1	19	1	0	0	0	0	1	0	0	0	13877	1145	40	1	2240	1	SCAP	3	47461115	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	13134	47461115	150561315	598	14897											
C3orf75	54859	broad.mit.edu	37	chr3	47537573	47537573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcaggtcacagaacagcagGagacattcctttggcaaaaa	9	9	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:47537573G>A	uc003crk.2	-	7	906	c.787C>T	c.(787-789)CCT>TCT	p.P263S	C3orf75_uc003crj.2_Missense_Mutation_p.P190S|C3orf75_uc011bba.1_Missense_Mutation_p.P214S	NM_001031703	NP_001026873	Q0PNE2	CC075_HUMAN	transmembrane protein 103	263											0						AGAACAGCAGGAGACATTCCT	0.488													A	47537573	G	A	47537573	3	1	19	1	0	0	0	0	1	0	0	0	2245	1174	41	4	17	4	C3orf75	3	47537573	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	76458	47537573	150484857	599	14898											
DHX30	22907	broad.mit.edu	37	chr3	47888784	47888784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgaggatgaatgcgcactcGatttggaccttgtgactgat	12	8	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:47888784G>A	uc003cru.2	+	12	2377	c.1951G>A	c.(1951-1953)GAT>AAT	p.D651N	DHX30_uc003crt.2_Missense_Mutation_p.D612N|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	651						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATGCGCACTCGATTTGGACCT	0.607													A	47888784	G	A	47888784	3	1	19	1	0	0	0	0	1	0	0	0	4504	1058	37	1	2000	1	DHX30	3	47888784	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	351211	47888784	150133646	600	14899											
MAP4	4134	broad.mit.edu	37	chr3	47896766	47896766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctcctgcaggtaggtggCccacattatcgagggatccc	11	14	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:47896766C>T	uc003csb.2	-	17	3759	c.3233G>A	c.(3232-3234)GGC>GAC	p.G1078D	MAP4_uc003csc.3_Missense_Mutation_p.G1078D|MAP4_uc003crw.2_Missense_Mutation_p.G157D|MAP4_uc003crx.2_Missense_Mutation_p.G254D|MAP4_uc011bbe.1_Missense_Mutation_p.G791D|MAP4_uc003cry.2_Missense_Mutation_p.G813D|MAP4_uc003csa.3_Missense_Mutation_p.G744D|MAP4_uc003crz.3_RNA	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	1078	Tau/MAP 4.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		AGGTAGGTGGCCCACATTATC	0.557													T	47896766	C	T	47896766	3	4	19	1	0	0	0	0	1	0	0	0	9258	739	26	2	388	2	MAP4	3	47896766	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	7982	47896766	150125664	601	14900											
ATRIP	84126	broad.mit.edu	37	chr3	48506470	48506470	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgagggcttcctgatgtgAcggactgtgaaggtaagcct	14	9	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:48506470A>G	uc003ctf.1	+	12	2328	c.2296A>G	c.(2296-2298)ACG>GCG	p.T766A	ATRIP_uc011bbj.1_Missense_Mutation_p.T639A|ATRIP_uc003ctg.1_Missense_Mutation_p.T739A|TREX1_uc010hjy.2_5'UTR|TREX1_uc003ctj.2_5'UTR|TREX1_uc003ctk.2_5'Flank|TREX1_uc010hjz.2_5'Flank|TREX1_uc010hka.2_5'Flank	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	ATR interacting protein isoform 1	766					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCTGATGTGACGGACTGTGA	0.587								Other_conserved_DNA_damage_response_genes					G	48506470	A	G	48506470	3	3	19	1	0	0	0	0	1	0	0	0	1205	275	10	3	2342	3	ATRIP	3	48506470	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	609704	48506470	149515960	602	14901											
UQCRC1	7384	broad.mit.edu	37	chr3	48638787	48638787	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcccaaaaggcagcatacctCactgccagtgaagcggcatg	11	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:48638787C>T	uc003cub.1	-	7	865	c.820G>A	c.(820-822)GAG>AAG	p.E274K	UQCRC1_uc003cua.1_Missense_Mutation_p.E159K|UQCRC1_uc003cuc.1_Missense_Mutation_p.E275K|UQCRC1_uc003cud.1_Missense_Mutation_p.E274K	NM_003365	NP_003356	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	274					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	CAGCATACCTCACTGCCAGTG	0.582													T	48638787	C	T	48638787	3	4	19	1	0	0	0	0	1	0	0	0	17016	835	29	4	650	4	UQCRC1	3	48638787	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	132317	48638787	149383643	603	14902											
CELSR3	1951	broad.mit.edu	37	chr3	48692534	48692534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagttgccaatctcagcaCcaaactgcagagccacggcc	9	14	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:48692534C>T	uc003cul.2	-	6	5212	c.4931G>A	c.(4930-4932)GGT>GAT	p.G1644D	CELSR3_uc003cuf.1_Missense_Mutation_p.G1714D	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1644	Extracellular (Potential).|Laminin G-like 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AATCTCAGCACCAAACTGCAG	0.607													T	48692534	C	T	48692534	3	4	19	1	0	0	0	0	1	0	0	0	3223	507	18	4	5127	4	CELSR3	3	48692534	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	53747	48692534	149329896	604	14903											
CELSR3	1951	broad.mit.edu	37	chr3	48699322	48699322	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagctgtcctcgccgtgcgtGgtgctgaatccagctcgggg	16	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:48699322G>T	uc003cul.2	-	1	1027	c.746C>A	c.(745-747)CCA>CAA	p.P249Q	CELSR3_uc003cuf.1_Missense_Mutation_p.P319Q	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	249	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCCGTGCGTGGTGCTGAATC	0.687											OREG0004260	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CELSR3|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	T	48699322	G	T	48699322	3	4	19	1	0	0	0	0	1	0	0	0	3223	1348	47	5	9332	5	CELSR3	3	48699322	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	6788	48699322	149323108	605	14904											
QRICH1	54870	broad.mit.edu	37	chr3	49084644	49084644	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaaggctgtggctgtgaCtgtggttcaacttcagcaac	15	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:49084644C>T	uc010hkq.2	-	5	1670	c.1374G>A	c.(1372-1374)CAG>CAA	p.Q458Q	QRICH1_uc003cvu.2_Silent_p.Q458Q|QRICH1_uc003cvv.2_Silent_p.Q458Q	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	458	Gln-rich.									ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GTGGCTGTGACTGTGGTTCAA	0.433													T	49084644	C	T	49084644	2	4	19	1	0	0	0	0	0	0	0	1	12879	564	20	4		4	QRICH1	3	49084644	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	385322	49084644	148937786	606	14905											
QARS	5859	broad.mit.edu	37	chr3	49137466	49137466	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtccatcttgccatcctccAtcaccagcttcatccgtagt	6	16	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:49137466A>G	uc003cvx.2	-	14	1228	c.1223T>C	c.(1222-1224)ATG>ACG	p.M408T	QARS_uc011bcc.1_5'Flank|QARS_uc011bcd.1_Missense_Mutation_p.M263T|QARS_uc003cvy.2_Missense_Mutation_p.M263T|QARS_uc011bce.1_Missense_Mutation_p.M397T	NM_005051	NP_005042	P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	408					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GCCATCCTCCATCACCAGCTT	0.567													G	49137466	A	G	49137466	3	3	19	1	0	0	0	0	1	0	0	0	12871	217	8	3	1148	3	QARS	3	49137466	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	52822	49137466	148884964	607	14906											
USP19	10869	broad.mit.edu	37	chr3	49149178	49149178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggagagcagtgtggtgcagCcagggctctgagactccaag	16	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:49149178C>A	uc003cwd.1	-	20	2824	c.2663G>T	c.(2662-2664)GGC>GTC	p.G888V	USP19_uc003cwa.2_Missense_Mutation_p.G696V|USP19_uc003cvz.3_Missense_Mutation_p.G991V|USP19_uc011bcg.1_Missense_Mutation_p.G979V|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.G646V|USP19_uc011bch.1_Missense_Mutation_p.G989V	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	888	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTGGTGCAGCCAGGGCTCTG	0.597													A	49149178	C	A	49149178	3	1	19	1	0	0	0	0	1	0	0	0	17047	739	26	5	1321	5	USP19	3	49149178	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	11712	49149178	148873252	608	14907											
USP19	10869	broad.mit.edu	37	chr3	49153503	49153504	+	Frame_Shift_Ins	INS	-	-	C													tgcagccggggcctccaggcINSccccccagcgctgactctgc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:49153502_49153503G>GC	uc003cwd.2	-	8	1464_1465	c.1145_1146C>GC	c.(1144-1146)ggcfs	p.G382fs	USP19_uc003cwa.3_Frame_Shift_Ins_p.G188fs|USP19_uc003cwb.3_Frame_Shift_Ins_p.G468fs|USP19_uc003cvz.4_Frame_Shift_Ins_p.G483fs|USP19_uc011bcg.2_Frame_Shift_Ins_p.G473fs|USP19_uc003cwc.2_Frame_Shift_Ins_p.G138fs|USP19_uc011bch.2_Frame_Shift_Ins_p.G483fs|USP19_uc011bci.2_Frame_Shift_Ins_p.G468fs	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	382	CS 2.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.L469fs*49(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGCCTCCAGGCCCCCCCAGCG	0.599													C	49153504	-	C	49153503	7	5	19	1	0	1	1	0	0	0	0	0	17047	739	26	0	2883	0	USP19	3	49153503	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	4325	49153503	148868927	609	14908											
USP19	10869	broad.mit.edu	37	chr3	49153556	49153556	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgtcgatgcgagaagcCgtgaaacagaaggtgcactg	14	8	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:49153556C>T	uc003cwd.1	-	9	1253	c.1092G>A	c.(1090-1092)ACG>ACA	p.T364T	USP19_uc003cwa.2_Silent_p.T170T|USP19_uc003cvz.3_Silent_p.T465T|USP19_uc011bcg.1_Silent_p.T455T|USP19_uc003cwb.2_Silent_p.T450T|USP19_uc003cwc.1_Silent_p.T120T|USP19_uc011bch.1_Silent_p.T465T|USP19_uc011bci.1_Silent_p.T450T	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	364	CS 2.|Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCGAGAAGCCGTGAAACAGA	0.572													T	49153556	C	T	49153556	2	4	19	1	0	0	0	0	0	0	0	1	17047	639	23	1		1	USP19	3	49153556	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	53	49153556	148868874	610	14909											
USP4	7375	broad.mit.edu	37	chr3	49362429	49362429	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagccgtgtttcacgctcCgcagggatgttgaatagctt	12	10	1	2	rs145047321	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:49362429C>T	uc003cwq.2	-	5	610	c.531G>A	c.(529-531)GCG>GCA	p.A177A	USP4_uc003cwr.2_Silent_p.A177A	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	177					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTTCACGCTCCGCAGGGATGT	0.502													T	49362429	C	T	49362429	2	4	19	1	0	0	0	0	0	0	0	1	17068	639	23	1		1	USP4	3	49362429	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	208873	49362429	148660001	611	14910											
DAG1	1605	broad.mit.edu	37	chr3	49570262	49570262	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctggcatcattgccatgaTctgctaccgcaagaagcgga	11	11	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:49570262T>C	uc003cxc.3	+	3	2736	c.2318T>C	c.(2317-2319)ATC>ACC	p.I773T		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	773	Helical; (Potential).				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ATTGCCATGATCTGCTACCGC	0.557													C	49570262	T	C	49570262	3	2	19	1	0	0	0	0	1	0	0	0	4225	1435	50	3	2324	3	DAG1	3	49570262	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	207833	49570262	148452168	612	14911											
BSN	8927	broad.mit.edu	37	chr3	49690049	49690049	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcgtctagaagaagcaaaGcagcagcgcaaggcccggca	13	12	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:49690049G>T	uc003cxe.3	+	5	3174	c.3060G>T	c.(3058-3060)AAG>AAT	p.K1020N		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1020					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAGAAGCAAAGCAGCAGCGCA	0.657													T	49690049	G	T	49690049	3	4	19	1	0	0	0	0	1	0	0	0	1530	962	34	5	3078	5	BSN	3	49690049	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	119787	49690049	148332381	613	14912											
IP6K1	9807	broad.mit.edu	37	chr3	49765012	49765012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatattgatagagggcattgCggaagccttcaatggagagc	14	6	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:49765012C>T	uc003cxm.1	-	6	1184	c.869G>A	c.(868-870)CGC>CAC	p.R290H	IP6K1_uc003cxn.1_Missense_Mutation_p.R125H|IP6K1_uc011bcv.1_Missense_Mutation_p.R125H|IP6K1_uc003cxo.2_3'UTR	NM_153273	NP_695005	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1 isoform 1	290					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						GAGGGCATTGCGGAAGCCTTC	0.562													T	49765012	C	T	49765012	3	4	19	1	0	0	0	0	1	0	0	0	7788	768	27	1	460	1	IP6K1	3	49765012	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	74963	49765012	148257418	614	14913											
RBM6	10180	broad.mit.edu	37	chr3	50095840	50095840	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatggttgattcagctatcAtgctaaagcgtatctatcgt	8	7	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:50095840A>G	uc003cyc.2	+	10	2108	c.1975A>G	c.(1975-1977)ATG>GTG	p.M659V	RBM6_uc010hlc.1_Missense_Mutation_p.M178V|RBM6_uc003cyd.2_Missense_Mutation_p.M137V|RBM6_uc003cye.2_Missense_Mutation_p.M137V|RBM6_uc011bdi.1_Missense_Mutation_p.M1V|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	659					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TTCAGCTATCATGCTAAAGCG	0.428													G	50095840	A	G	50095840	3	3	19	1	0	0	0	0	1	0	0	0	13144	217	8	3	2009	3	RBM6	3	50095840	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	330828	50095840	147926590	615	14914											
RASSF1	11186	broad.mit.edu	37	chr3	50368119	50368119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcccgctgcaggatacGtaggaagttatgtagttcag	11	10	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:50368119G>A	uc003dad.1	-	6	1059	c.928C>T	c.(928-930)CGT>TGT	p.R310C	TUSC2_uc003czy.1_5'Flank|TUSC2_uc003czz.1_5'Flank|RASSF1_uc003daa.1_Missense_Mutation_p.R155C|RASSF1_uc003dab.1_Missense_Mutation_p.R236C|RASSF1_uc003dac.2_Missense_Mutation_p.R155C|RASSF1_uc003dae.1_Missense_Mutation_p.R306C|RASSF1_uc010hlk.1_RNA|RASSF1_uc003daf.1_Missense_Mutation_p.R155C	NM_170714	NP_733832	Q9NS23	RASF1_HUMAN	Ras association domain family 1 isoform D	310	SARAH.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGCAGGATACGTAGGAAGTTA	0.597													A	50368119	G	A	50368119	3	1	19	1	0	0	0	0	1	0	0	0	13084	1145	40	1	110	1	RASSF1	3	50368119	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	272279	50368119	147654311	616	14915											
RBM15B	29890	broad.mit.edu	37	chr3	51431424	51431424	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgacttttcccagcagtAcctccagtcagcactaagga	8	14	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:51431424A>G	uc003dbd.2	+	1	2694	c.2594A>G	c.(2593-2595)TAC>TGC	p.Y865C		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	865	Interaction with Epstein-Barr virus BMLF1.|SPOC.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TCCCAGCAGTACCTCCAGTCA	0.582													G	51431424	A	G	51431424	3	3	19	1	0	0	0	0	1	0	0	0	13117	391	14	3	2596	3	RBM15B	3	51431424	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1063305	51431424	146591006	617	14916											
VPRBP	9730	broad.mit.edu	37	chr3	51458330	51458330	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagagataaatttaccaatActggatattcggttatctgg	8	7	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:51458330A>G	uc003dbe.1	-	14	2262	c.2094T>C	c.(2092-2094)AGT>AGC	p.S698S	VPRBP_uc003dbf.1_5'UTR	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	698					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		ATTTACCAATACTGGATATTC	0.458													G	51458330	A	G	51458330	2	3	19	1	0	0	0	0	0	0	0	1	17182	388	14	3		3	VPRBP	3	51458330	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	26906	51458330	146564100	618	14917											
PCBP4	57060	broad.mit.edu	37	chr3	51993259	51993259	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttacctggcaccacgctgGgtgtggcaaaggggaccgca	15	12	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:51993259G>T	uc003dcd.1	-	9	1082	c.686C>A	c.(685-687)CCC>CAC	p.P229H	PCBP4_uc003dcb.1_Missense_Mutation_p.P195H|PCBP4_uc003dcc.1_Missense_Mutation_p.P250H|PCBP4_uc003dce.1_Silent_p.T230T|PCBP4_uc003dcf.1_Missense_Mutation_p.P229H|PCBP4_uc003dcg.1_Missense_Mutation_p.P195H|PCBP4_uc003dch.1_Missense_Mutation_p.P229H|PCBP4_uc003dci.1_Missense_Mutation_p.P69H|PCBP4_uc003dcj.1_Missense_Mutation_p.P229H|PCBP4_uc003dck.1_Missense_Mutation_p.P186H|PCBP4_uc003dcl.1_Missense_Mutation_p.P229H	NM_033010	NP_127503	P57723	PCBP4_HUMAN	poly(rC) binding protein 4 isoform c	229						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CACCACGCTGGGTGTGGCAAA	0.637													T	51993259	G	T	51993259	3	4	19	1	0	0	0	0	1	0	0	0	11503	1232	43	5	541	5	PCBP4	3	51993259	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	534929	51993259	146029171	619	14918											
TLR9	54106	broad.mit.edu	37	chr3	52257500	52257500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctcaggtggctgaaggtatCgggatgtagctgggggaagt	19	5	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:52257500C>T	uc003dda.1	-	2	1466	c.832G>A	c.(832-834)GAT>AAT	p.D278N	TLR9_uc003ddb.2_Missense_Mutation_p.D375N	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	278	Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CTGAAGGTATCGGGATGTAGC	0.622													T	52257500	C	T	52257500	3	4	19	1	0	0	0	0	1	0	0	0	15955	884	31	1	2270	1	TLR9	3	52257500	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	264241	52257500	145764930	620	14919											
DNAH1	25981	broad.mit.edu	37	chr3	52429688	52429688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcgagcacatcaacccCgacaaggtgtgttgccctgc	9	15	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:52429688C>T	uc011bef.1	+	70	11514	c.11253C>T	c.(11251-11253)CCC>CCT	p.P3751P	DNAH1_uc003ddv.2_Silent_p.P609P	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3816	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACATCAACCCCGACAAGGTGT	0.493													T	52429688	C	T	52429688	2	4	19	1	0	0	0	0	0	0	0	1	4597	639	23	1		1	DNAH1	3	52429688	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	172188	52429688	145592742	621	14920											
NISCH	11188	broad.mit.edu	37	chr3	52522536	52522536	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcgctgcaggacctgaagActgtggtcatcgccaagacc	11	14	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:52522536A>G	uc011beg.1	+	17	3100	c.3028A>G	c.(3028-3030)ACT>GCT	p.T1010A	NISCH_uc003ded.3_Missense_Mutation_p.T1010A|NISCH_uc003dee.3_Missense_Mutation_p.T499A|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1010					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GGACCTGAAGACTGTGGTCAT	0.652													G	52522536	A	G	52522536	3	3	19	1	0	0	0	0	1	0	0	0	10432	275	10	3	3090	3	NISCH	3	52522536	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	92848	52522536	145499894	622	14921											
STAB1	23166	broad.mit.edu	37	chr3	52540711	52540711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtctctgccgcaggggCgcatcctgctgggacccgag	17	13	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:52540711C>T	uc003dej.2	+	18	1908	c.1834C>T	c.(1834-1836)CGC>TGC	p.R612C	STAB1_uc003dei.1_Missense_Mutation_p.R612C	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	612	Extracellular (Potential).|FAS1 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCGCAGGGGCGCATCCTGCT	0.692													T	52540711	C	T	52540711	3	4	19	1	0	0	0	0	1	0	0	0	15236	768	27	1	1904	1	STAB1	3	52540711	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	18175	52540711	145481719	623	14922											
STAB1	23166	broad.mit.edu	37	chr3	52547908	52547909	+	Frame_Shift_Ins	INS	-	-	C													tctgtaccaggtcttactgcINSccccccgaggggatgtgccc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:52547907_52547908G>GC	uc003dej.3	+	31	3431_3432	c.3357_3358G>GC	c.(3355-3360)ctgcccfs	p.L1119fs		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1119					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.R1122fs*37(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGGTCTTACTGCCCCCCCGAGG	0.624													C	52547909	-	C	52547908	7	5	19	1	0	1	1	0	0	0	0	0	15236	739	26	0	3484	0	STAB1	3	52547908	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	7197	52547908	145474522	624	14923											
STAB1	23166	broad.mit.edu	37	chr3	52556376	52556376	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgagtgccacgcaggcTacgtaggcgatggactgcag	16	10	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:52556376T>C	uc003dej.2	+	60	6570	c.6496T>C	c.(6496-6498)TAC>CAC	p.Y2166H	STAB1_uc003dek.1_Missense_Mutation_p.Y181H|STAB1_uc003del.2_Missense_Mutation_p.Y53H	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	2166	EGF-like 16.|Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCACGCAGGCTACGTAGGCGA	0.642													C	52556376	T	C	52556376	3	2	19	1	0	0	0	0	1	0	0	0	15236	1522	53	3	6734	3	STAB1	3	52556376	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	8468	52556376	145466054	625	14924											
CACNA1D	776	broad.mit.edu	37	chr3	53766111	53766111	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgccttgcgatgtgccaggTatggtggcggaggccggaga	18	10	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:53766111T>C	uc003dgv.3	+	18	2636	c.2473_splice	c.e18+2	p.V825_splice	CACNA1D_uc003dgu.3_Splice_Site_p.V845_splice|CACNA1D_uc003dgy.3_Splice_Site_p.V825_splice|CACNA1D_uc003dgw.3_Splice_Site_p.V492_splice|CACNA1D_uc003dgx.1_Splice_Site	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ATGTGCCAGGTATGGTGGCGG	0.572													C	53766111	T	C	53766111	5	2	19	1	0	0	0	0	0	0	1	0	2541	1652	57	3	2717	3	CACNA1D	3	53766111	Splice_Site	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1209735	53766111	144256319	626	14925											
CACNA1D	776	broad.mit.edu	37	chr3	53783469	53783469	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaggagaaaaagagtaTaagaactgtgagctggacaa	12	4	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:53783469T>C	uc003dgv.3	+	27	3652	c.3489T>C	c.(3487-3489)TAT>TAC	p.Y1163Y	CACNA1D_uc003dgu.3_Silent_p.Y1183Y|CACNA1D_uc003dgy.3_Silent_p.Y1163Y|CACNA1D_uc003dgw.3_Silent_p.Y830Y|CACNA1D_uc003dgx.1_Silent_p.Y311Y	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1163	Dihydropyridine binding (By similarity).|Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AAAAAGAGTATAAGAACTGTG	0.403													C	53783469	T	C	53783469	2	2	19	1	0	0	0	0	0	0	0	1	2541	1413	49	3		3	CACNA1D	3	53783469	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	17358	53783469	144238961	627	14926											
CACNA1D	776	broad.mit.edu	37	chr3	53844288	53844288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttccggaacaaaaacaGcgacaagcagaggagtgcgg	13	10	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:53844288G>A	uc003dgv.3	+	47	6318	c.6155G>A	c.(6154-6156)AGC>AAC	p.S2052N	CACNA1D_uc003dgu.3_Missense_Mutation_p.S2072N|CACNA1D_uc003dgy.3_Missense_Mutation_p.S2028N|CACNA1D_uc003dgw.3_Missense_Mutation_p.S1719N|CACNA1D_uc011bes.1_RNA	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	2052	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AACAAAAACAGCGACAAGCAG	0.597													A	53844288	G	A	53844288	3	1	19	1	0	0	0	0	1	0	0	0	2541	971	34	2	6513	2	CACNA1D	3	53844288	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	60819	53844288	144178142	628	14927											
ACTR8	93973	broad.mit.edu	37	chr3	53904097	53904097	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtgctgcagaaattctTgagctttatgaaacatcaaa	7	7	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:53904097T>C	uc003dhd.2	-	12	1702	c.1643A>G	c.(1642-1644)CAA>CGA	p.Q548R	ACTR8_uc003dhb.2_Missense_Mutation_p.Q253R|ACTR8_uc003dhc.2_Missense_Mutation_p.Q437R	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	548					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CAGAAATTCTTGAGCTTTATG	0.428													C	53904097	T	C	53904097	3	2	19	1	0	0	0	0	1	0	0	0	217	1812	63	3	239	3	ACTR8	3	53904097	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	59809	53904097	144118333	629	14928											
LRTM1	57408	broad.mit.edu	37	chr3	54958882	54958882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaatcaagctccctcagcTgagggagggaatggaaaagt	12	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:54958882T>C	uc003dhl.2	-	2	502	c.368A>G	c.(367-369)CAG>CGG	p.Q123R	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	123	LRR 4.|Extracellular (Potential).					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CTCCCTCAGCTGAGGGAGGGA	0.478													C	54958882	T	C	54958882	3	2	19	1	0	0	0	0	1	0	0	0	9044	1580	55	3	677	3	LRTM1	3	54958882	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1054785	54958882	143063548	630	14929											
ARHGEF3	50650	broad.mit.edu	37	chr3	56771226	56771226	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tacttaccacgccccgattgTtcttcagttcaccatgacaa	5	14	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:56771226T>A	uc003dig.2	-	8	1197	c.1028A>T	c.(1027-1029)AAC>ATC	p.N343I	ARHGEF3_uc011bew.1_Missense_Mutation_p.N343I|ARHGEF3_uc003dih.2_Missense_Mutation_p.N375I|ARHGEF3_uc011bev.1_Missense_Mutation_p.N314I|ARHGEF3_uc003dif.2_Missense_Mutation_p.N349I|ARHGEF3_uc010hmy.1_Missense_Mutation_p.N141I|ARHGEF3_uc003dii.2_Missense_Mutation_p.N343I	NM_019555	NP_062455	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor 3 isoform	343	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GCCCCGATTGTTCTTCAGTTC	0.473													A	56771226	T	A	56771226	3	1	19	1	0	0	0	0	1	0	0	0	904	1725	60	5	564	5	ARHGEF3	3	56771226	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1812344	56771226	141251204	631	14930											
APPL1	26060	broad.mit.edu	37	chr3	57294720	57294720	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagcgcctttttggatttgTtcttcggacatcaagcggga	11	8	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:57294720T>C	uc003dio.2	+	19	1907	c.1760T>C	c.(1759-1761)GTT>GCT	p.V587A	APPL1_uc010hnb.2_Missense_Mutation_p.V587A|APPL1_uc011bey.1_Missense_Mutation_p.V570A	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH	587	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TTTGGATTTGTTCTTCGGACA	0.398													C	57294720	T	C	57294720	3	2	19	1	0	0	0	0	1	0	0	0	817	1725	60	3	1834	3	APPL1	3	57294720	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	523494	57294720	140727710	632	14931											
FLNB	2317	broad.mit.edu	37	chr3	57994331	57994331	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctagctgaggacgcgcctTggaagaagatccagcagaac	12	10	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:57994331T>C	uc003djj.2	+	1	205	c.40T>C	c.(40-42)TGG>CGG	p.W14R	FLNB_uc010hne.2_Missense_Mutation_p.W14R|FLNB_uc003djk.2_Missense_Mutation_p.W14R|FLNB_uc010hnf.2_Missense_Mutation_p.W14R	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	14	Actin-binding.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGACGCGCCTTGGAAGAAGAT	0.612													C	57994331	T	C	57994331	3	2	19	1	0	0	0	0	1	0	0	0	5934	1812	63	3	42	3	FLNB	3	57994331	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	699611	57994331	140028099	633	14932											
ABHD6	57406	broad.mit.edu	37	chr3	58279454	58279454	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcataatcgactttttagctTctgtgcacaacacagacaac	5	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:58279454T>C	uc003djs.3	+	9	1386	c.976T>C	c.(976-978)TCT>CCT	p.S326P	ABHD6_uc003djr.2_Missense_Mutation_p.S327P|ABHD6_uc003djt.3_Missense_Mutation_p.S326P	NM_020676	NP_065727	Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	326	Cytoplasmic (Potential).					integral to membrane	acylglycerol lipase activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CTTTTTAGCTTCTGTGCACAA	0.522													C	58279454	T	C	58279454	3	2	19	1	0	0	0	0	1	0	0	0	86	1783	62	3	1006	3	ABHD6	3	58279454	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	285123	58279454	139742976	634	14933											
MAGI1	9223	broad.mit.edu	37	chr3	65415576	65415576	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gactttgcctgttttactacTgtggctagctggtgaatcat	10	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:65415576T>G	uc003dmn.2	-	12	2312	c.1786A>C	c.(1786-1788)AGT>CGT	p.S596R	MAGI1_uc003dmm.2_Missense_Mutation_p.S596R|MAGI1_uc003dmo.2_Missense_Mutation_p.S596R|MAGI1_uc003dmp.2_Missense_Mutation_p.S596R|MAGI1_uc010hny.2_Missense_Mutation_p.S481R	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	596					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GTTTTACTACTGTGGCTAGCT	0.453													G	65415576	T	G	65415576	3	3	19	1	0	0	0	0	1	0	0	0	9190	1580	55	5	2884	5	MAGI1	3	65415576	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	7136122	65415576	132606854	635	14934											
MAGI1	9223	broad.mit.edu	37	chr3	66023680	66023680	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctgccttaccttgtctgaCggccttgaaggtgacggcct	11	14	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:66023680C>A	uc003dmn.2	-	1	830	c.304G>T	c.(304-306)GTC>TTC	p.V102F	MAGI1_uc003dmm.2_Missense_Mutation_p.V102F|MAGI1_uc003dmo.2_Missense_Mutation_p.V102F|MAGI1_uc003dmp.2_Missense_Mutation_p.V102F|MAGI1_uc003dmr.2_Missense_Mutation_p.V102F	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	102	Guanylate kinase-like.|PDZ 1.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CCTTGTCTGACGGCCTTGAAG	0.647													A	66023680	C	A	66023680	3	1	19	1	0	0	0	0	1	0	0	0	9190	536	19	5	4410	5	MAGI1	3	66023680	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	608104	66023680	131998750	636	14935											
LRIG1	26018	broad.mit.edu	37	chr3	66436422	66436422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccattcacggtgagcctgGccttatgtgaataggtggag	13	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:66436422G>A	uc003dmx.2	-	13	1786	c.1772C>T	c.(1771-1773)GCC>GTC	p.A591V	SLC25A26_uc011bft.1_Intron|LRIG1_uc011bfu.1_Missense_Mutation_p.A211V|LRIG1_uc003dmw.2_Missense_Mutation_p.A257V|LRIG1_uc010hnz.2_Missense_Mutation_p.A307V|LRIG1_uc010hoa.2_Missense_Mutation_p.A615V	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	591	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGTGAGCCTGGCCTTATGTGA	0.498													A	66436422	G	A	66436422	3	1	19	1	0	0	0	0	1	0	0	0	8944	1203	42	2	1537	2	LRIG1	3	66436422	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	412742	66436422	131586008	637	14936											
SUCLG2	8801	broad.mit.edu	37	chr3	67568750	67568750	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttattccttcaaaaatgTcaatttgctcctagtaaaaa	3	9	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:67568750T>C	uc003dna.3	-	6	609	c.581A>G	c.(580-582)GAC>GGC	p.D194G	SUCLG2_uc010hob.2_Missense_Mutation_p.D75G	NM_003848	NP_003839	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming beta subunit	194	ATP-grasp.				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|skin(1)	2		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	TTCAAAAATGTCAATTTGCTC	0.368													C	67568750	T	C	67568750	3	2	19	1	0	0	0	0	1	0	0	0	15364	1667	58	3	885	3	SUCLG2	3	67568750	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1132328	67568750	130453680	638	14937											
FOXP1	27086	broad.mit.edu	37	chr3	71247436	71247436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccgttggaccgcccctcccGaagaccgccgcactctagta	9	18	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:71247436G>A	uc003dol.2	-	2	420	c.97C>T	c.(97-99)CGG>TGG	p.R33W	FOXP1_uc003dom.2_Missense_Mutation_p.R33W|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.R33W|FOXP1_uc003dop.2_Missense_Mutation_p.R33W|FOXP1_uc003doq.1_Missense_Mutation_p.R33W|FOXP1_uc003dos.2_Missense_Mutation_p.R33W	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	33					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CGCCCCTCCCGAAGACCGCCG	0.607			T	PAX5	ALL								A	71247436	G	A	71247436	3	1	19	1	0	0	0	0	1	0	0	0	6026	1057	37	1	2169	1	FOXP1	3	71247436	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3678686	71247436	126774994	639	14938											
PPP4R2	151987	broad.mit.edu	37	chr3	73108188	73108188	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaattatatttttttgcagTatcccttttactattcagcg	4	7	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:73108188T>C	uc003dph.1	+	4	358	c.288T>C	c.(286-288)GGT>GGC	p.G96G	PPP4R2_uc003dpi.1_Silent_p.I39I|FLJ10213_uc003dpj.2_5'Flank	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	96					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			lung(1)	1		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		TTTTTTGCAGTATCCCTTTTA	0.338													C	73108188	T	C	73108188	2	2	19	1	0	0	0	0	0	0	0	1	12404	1652	57	3		3	PPP4R2	3	73108188	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1860752	73108188	124914242	640	14939											
CNTN3	5067	broad.mit.edu	37	chr3	74383946	74383946	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaagggccccattgaaAtaccaggtaaagatgatgtc	10	9	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:74383946A>G	uc003dpm.1	-	12	1688	c.1608T>C	c.(1606-1608)TAT>TAC	p.Y536Y		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	536	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCCCATTGAAATACCAGGTAA	0.373													G	74383946	A	G	74383946	2	3	19	1	0	0	0	0	0	0	0	1	3642	108	4	3		3	CNTN3	3	74383946	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1275758	74383946	123638484	641	14940											
ROBO2	6092	broad.mit.edu	37	chr3	77623872	77623872	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctaaaacggttcgtactActgaagaaggtcagtattca	8	7	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:77623872A>G	uc003dpy.3	+	14	2837	c.2194A>G	c.(2194-2196)ACT>GCT	p.T732A	ROBO2_uc003dpz.2_Missense_Mutation_p.T736A|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.T736A	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	732	Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGTTCGTACTACTGAAGAAGG	0.338													G	77623872	A	G	77623872	3	3	19	1	0	0	0	0	1	0	0	0	13514	391	14	3	2250	3	ROBO2	3	77623872	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3239926	77623872	120398558	642	14941											
GBE1	2632	broad.mit.edu	37	chr3	81548278	81548278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccaaaagagaatagggacGcccattatgttcaaaagcct	8	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:81548278G>A	uc003dqg.2	-	16	2318	c.2035C>T	c.(2035-2037)CGT>TGT	p.R679C		NM_000158	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	679					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(3)	3		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GAATAGGGACGCCCATTATGT	0.348									Glycogen_Storage_Disease_type_IV				A	81548278	G	A	81548278	3	1	19	1	0	0	0	0	1	0	0	0	6270	1087	38	1	81	1	GBE1	3	81548278	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3924406	81548278	116474152	643	14942											
ZNF654	55279	broad.mit.edu	37	chr3	88189082	88189082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgctcttggttgtgtcCggatatttaaaagaattggg	12	6	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:88189082C>T	uc003dqv.2	+	1	821	c.622C>T	c.(622-624)CGG>TGG	p.R208W	CGGBP1_uc003dqu.2_Intron	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	208	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TGGTTGTGTCCGGATATTTAA	0.368													T	88189082	C	T	88189082	3	4	19	1	0	0	0	0	1	0	0	0	18064	643	23	1	624	1	ZNF654	3	88189082	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	6640804	88189082	109833348	644	14943											
EPHA6	285220	broad.mit.edu	37	chr3	96706732	96706732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgaagagtgctgaagagCgtgacactcctaaactgtat	12	7	0	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:96706732C>T	uc010how.1	+	3	1052	c.1009C>T	c.(1009-1011)CGT>TGT	p.R337C	EPHA6_uc003drp.1_Missense_Mutation_p.R337C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	242	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						TGCTGAAGAGCGTGACACTCC	0.468													T	96706732	C	T	96706732	3	4	19	1	0	0	0	0	1	0	0	0	5171	768	27	1	1019	1	EPHA6	3	96706732	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	8517650	96706732	101315698	645	14944											
OR5H1	26341	broad.mit.edu	37	chr3	97852456	97852456	+	Frame_Shift_Del	DEL	A	A	-													gtttcattcacaaaaatgttAaaaaaacatgttaaggtttc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:97852456delA	uc011bgt.1	+	1	915	c.915delA	c.(913-915)TTAfs	p.L305fs		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H,	305	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						CAAAAATGTTAAAAAAACATG	0.323													-	97852456	A	-	97852456	7	5	19	1	0	1	0	1	0	0	0	0	11159	359	13	0	917	0	OR5H1	3	97852456	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	1145724	97852456	100169974	646	14945											
DCBLD2	131566	broad.mit.edu	37	chr3	98538224	98538224	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgttatttgaggatccgcGatcacaccagactccatccc	8	14	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:98538224G>A	uc003dtd.2	-	8	1272	c.909C>T	c.(907-909)ATC>ATT	p.I303I	DCBLD2_uc003dte.2_Silent_p.I303I	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	303	Extracellular (Potential).|F5/8 type C.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3						GAGGATCCGCGATCACACCAG	0.443													A	98538224	G	A	98538224	2	1	19	1	0	0	0	0	0	0	0	1	4281	1048	37	1		1	DCBLD2	3	98538224	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	685768	98538224	99484206	647	14946											
DCBLD2	131566	broad.mit.edu	37	chr3	98541118	98541118	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaactttcataataggggaTacctttactaattacaacac	5	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:98541118T>C	uc003dtd.2	-	6	1147	c.784A>G	c.(784-786)ATC>GTC	p.I262V	DCBLD2_uc003dte.2_Missense_Mutation_p.I262V	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	262	Extracellular (Potential).|LCCL.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3						TAATAGGGGATACCTTTACTA	0.398													C	98541118	T	C	98541118	3	2	19	1	0	0	0	0	1	0	0	0	4281	1406	49	3	1587	3	DCBLD2	3	98541118	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2894	98541118	99481312	648	14947											
FILIP1L	11259	broad.mit.edu	37	chr3	99567788	99567788	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagagtggctgtgttttgtAcatggtctggagtaaccttt	12	6	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:99567788A>G	uc003dtm.2	-	5	3195	c.2732T>C	c.(2731-2733)GTA>GCA	p.V911A	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.V911A|FILIP1L_uc010hpf.2_Missense_Mutation_p.V487A|FILIP1L_uc010hpg.2_Missense_Mutation_p.V671A|FILIP1L_uc003dtn.2_Missense_Mutation_p.V671A|FILIP1L_uc003dtp.1_Missense_Mutation_p.V671A	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	911						cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						TGTGTTTTGTACATGGTCTGG	0.473													G	99567788	A	G	99567788	3	3	19	1	0	0	0	0	1	0	0	0	5895	391	14	3	704	3	FILIP1L	3	99567788	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1026670	99567788	98454642	649	14948											
C3orf26	84319	broad.mit.edu	37	chr3	99881157	99881157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catatcttagaagaaaattaCtgatgttcttgcaaaatcag	6	6	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:99881157C>T	uc003dtl.2	+	4	379	c.236C>T	c.(235-237)ACT>ATT	p.T79I		NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	hypothetical protein LOC84319	79							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(1)	1						AAGAAAATTACTGATGTTCTT	0.373													T	99881157	C	T	99881157	3	4	19	1	0	0	0	0	1	0	0	0	2218	565	20	4	264	4	C3orf26	3	99881157	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	313369	99881157	98141273	650	14949											
ZBTB11	27107	broad.mit.edu	37	chr3	101370325	101370326	+	Frame_Shift_Ins	INS	-	-	T													tatgaaactgaagggtgtctINSttttccagcataattttgca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:101370324_101370325C>CT	uc003dve.4	-	10	3077_3078	c.2847_2848G>AG	c.(2845-2850)aaagacfs	p.K949fs		NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	949					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGAAGGGTGTCTTTTTCCAGCA	0.436													T	101370326	-	T	101370325	7	5	19	1	0	1	1	0	0	0	0	0	17521	1606	56	0	318	0	ZBTB11	3	101370325	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	1489168	101370325	96652105	651	14950											
CEP97	79598	broad.mit.edu	37	chr3	101447772	101447772	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatctatctaaattggtAtccctgaaagtaagtatgtt	9	5	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:101447772A>G	uc003dvk.1	+	4	465	c.438A>G	c.(436-438)GTA>GTG	p.V146V	CEP97_uc010hpm.1_Intron|CEP97_uc011bhf.1_Silent_p.V146V|CEP97_uc003dvl.1_Intron	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	146	LRR 5.					centrosome|nucleus	protein binding			ovary(2)	2						CTAAATTGGTATCCCTGAAAG	0.348													G	101447772	A	G	101447772	2	3	19	1	0	0	0	0	0	0	0	1	3263	436	16	3		3	CEP97	3	101447772	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	77447	101447772	96574658	652	14951											
CEP97	79598	broad.mit.edu	37	chr3	101451384	101451384	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagttgtcgattatgaacaAtccttgtgtgatggcaacac	9	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:101451384A>G	uc003dvk.1	+	6	641	c.614A>G	c.(613-615)AAT>AGT	p.N205S	CEP97_uc010hpm.1_Missense_Mutation_p.N171S|CEP97_uc011bhf.1_Missense_Mutation_p.N205S|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Missense_Mutation_p.N43S	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	205	LRR 8.					centrosome|nucleus	protein binding			ovary(2)	2						ATTATGAACAATCCTTGTGTG	0.413													G	101451384	A	G	101451384	3	3	19	1	0	0	0	0	1	0	0	0	3263	101	4	3	636	3	CEP97	3	101451384	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3612	101451384	96571046	653	14952											
ZPLD1	131368	broad.mit.edu	37	chr3	102181167	102181167	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taattatccccagtataggaTtacctttgaaaaccaaagta	5	8	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:102181167T>G	uc003dvs.1	+	13	1507	c.625T>G	c.(625-627)TTA>GTA	p.L209V	ZPLD1_uc003dvt.1_Missense_Mutation_p.L225V|ZPLD1_uc011bhg.1_Missense_Mutation_p.L209V	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	209	ZP.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(2)|central_nervous_system(1)	5						CAGTATAGGATTACCTTTGAA	0.353													G	102181167	T	G	102181167	3	3	19	1	0	0	0	0	1	0	0	0	18218	1490	52	5	695	5	ZPLD1	3	102181167	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	729783	102181167	95841263	654	14953											
MORC1	27136	broad.mit.edu	37	chr3	108688562	108688562	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttcatctgctctgggcacTgctccagctgttttcataaa	8	11	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:108688562T>C	uc003dxl.2	-	26	2645	c.2558A>G	c.(2557-2559)CAG>CGG	p.Q853R	MORC1_uc011bhn.1_Missense_Mutation_p.Q832R	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	853					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						CTCTGGGCACTGCTCCAGCTG	0.358													C	108688562	T	C	108688562	3	2	19	1	0	0	0	0	1	0	0	0	9701	1580	55	3	408	3	MORC1	3	108688562	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	6507395	108688562	89333868	655	14954											
DPPA4	55211	broad.mit.edu	37	chr3	109050618	109050618	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaggcacacaggcgcttaTatgcatccaatttctaagac	7	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:109050618T>C	uc003dxq.3	-	4	408	c.353A>G	c.(352-354)TAT>TGT	p.Y118C	DPPA4_uc011bho.1_Missense_Mutation_p.Y118C|DPPA4_uc011bhp.1_Missense_Mutation_p.Y118C	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	118						nucleus	protein binding			upper_aerodigestive_tract(1)	1						CAGGCGCTTATATGCATCCAA	0.438													C	109050618	T	C	109050618	3	2	19	1	0	0	0	0	1	0	0	0	4736	1406	49	3	577	3	DPPA4	3	109050618	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	362056	109050618	88971812	656	14955											
CCDC52	152185	broad.mit.edu	37	chr3	113176104	113176104	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttatctggagggtctggCacctgagacagtttaacggg	14	7	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:113176104C>T	uc003eag.3	-	13	1827	c.1536G>A	c.(1534-1536)GTG>GTA	p.V512V	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Silent_p.V408V	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	512					cell division|mitosis	centriole|spindle	protein binding				0						GAGGGTCTGGCACCTGAGACA	0.468													T	113176104	C	T	113176104	2	4	19	1	0	0	0	0	0	0	0	1	2822	697	25	2		2	CCDC52	3	113176104	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	4125486	113176104	84846326	657	14956											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-													cacctgggggtgtgcctgcaGggggggtcccattgctggca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:114058002_114058002AG>A	uc003ebi.3	-	4	2256	c.2076_2076CT>T	c.(2074-2076)cctfs	p.P692fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P619fs	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGTGCCTGCAGGGGGGGTCC	0.632													-	114058003	G	-	114058003	7	5	19	1	0	1	0	1	0	0	0	0	17526	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	881899	114058003	83964427	658	14957											
UPK1B	7348	broad.mit.edu	37	chr3	118906708	118906708	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttgaagccaccgacaaCgatgacatctatggggctgc	11	12	1	2	rs137980561	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:118906708C>T	uc003ecc.2	+	3	245	c.156C>T	c.(154-156)AAC>AAT	p.N52N	UPK1B_uc011bix.1_Translation_Start_Site|UPK1B_uc003ecd.2_Silent_p.N52N	NM_006952	NP_008883	O75841	UPK1B_HUMAN	uroplakin 1B	52	Extracellular (Potential).				epithelial cell differentiation	integral to membrane	structural molecule activity				0				GBM - Glioblastoma multiforme(114;0.222)		CCACCGACAACGATGACATCT	0.532													T	118906708	C	T	118906708	2	4	19	1	0	0	0	0	0	0	0	1	17005	535	19	1		1	UPK1B	3	118906708	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	4848705	118906708	79115722	659	14958											
POLQ	10721	broad.mit.edu	37	chr3	121158854	121158854	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catacgtgagctttacgataAgggttgttgtctttgattcc	10	7	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:121158854A>C	uc003eee.3	-	27	7503	c.7374T>G	c.(7372-7374)CCT>CCG	p.P2458P	POLQ_uc003eed.2_Silent_p.P1630P	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	2458					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		CTTTACGATAAGGGTTGTTGT	0.338								DNA_polymerases_(catalytic_subunits)					C	121158854	A	C	121158854	2	2	19	1	0	0	0	0	0	0	0	1	12208	59	3	5		5	POLQ	3	121158854	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2252146	121158854	76863576	660	14959											
POLQ	10721	broad.mit.edu	37	chr3	121229067	121229067	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatgcatatcttgtgatgtActtgccactccaccaactat	6	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:121229067A>G	uc003eee.3	-	11	1764	c.1635T>C	c.(1633-1635)AGT>AGC	p.S545S		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	545	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		CTTGTGATGTACTTGCCACTC	0.338								DNA_polymerases_(catalytic_subunits)					G	121229067	A	G	121229067	2	3	19	1	0	0	0	0	0	0	0	1	12208	388	14	3		3	POLQ	3	121229067	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	70213	121229067	76793363	661	14960											
GOLGB1	2804	broad.mit.edu	37	chr3	121412910	121412910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtggactttttctctgcGcaaagcatccagtttctctt	7	11	2	0	rs114710035	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:121412910G>A	uc003eei.3	-	13	6571	c.6445C>T	c.(6445-6447)CGC>TGC	p.R2149C	GOLGB1_uc010hrc.2_Missense_Mutation_p.R2154C|GOLGB1_uc003eej.3_Missense_Mutation_p.R2115C|GOLGB1_uc011bjm.1_Missense_Mutation_p.R2035C|GOLGB1_uc010hrd.1_Missense_Mutation_p.R2113C	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	2149	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TTTTCTCTGCGCAAAGCATCC	0.418													A	121412910	G	A	121412910	3	1	19	1	0	0	0	0	1	0	0	0	6565	1087	38	1	3374	1	GOLGB1	3	121412910	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	183843	121412910	76609520	662	14961											
PARP14	54625	broad.mit.edu	37	chr3	122419228	122419228	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgagaacaaagaagttctTcatggcaagaaatggaaagg	12	4	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:122419228T>C	uc003efq.3	+	6	1886	c.1827T>C	c.(1825-1827)CTT>CTC	p.L609L	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Silent_p.L326L|PARP14_uc003efs.1_Silent_p.L326L	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		AAGAAGTTCTTCATGGCAAGA	0.388													C	122419228	T	C	122419228	2	2	19	1	0	0	0	0	0	0	0	1	11458	1770	62	3		3	PARP14	3	122419228	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1006318	122419228	75603202	663	14962											
HSPBAP1	79663	broad.mit.edu	37	chr3	122459517	122459517	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggacttgctgcctccggtTtgtctgttcctgtggtcaag	13	10	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:122459517T>C	uc003efu.1	-	8	1265	c.1142A>G	c.(1141-1143)AAA>AGA	p.K381R	HSPBAP1_uc003eft.1_Missense_Mutation_p.K92R	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Hspb associated protein 1	381						cytoplasm				ovary(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.0531)		TGCCTCCGGTTTGTCTGTTCC	0.507													C	122459517	T	C	122459517	3	2	19	1	0	0	0	0	1	0	0	0	7425	1841	64	3	328	3	HSPBAP1	3	122459517	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	40289	122459517	75562913	664	14963											
SEMA5B	54437	broad.mit.edu	37	chr3	122629052	122629052	+	Frame_Shift_Del	DEL	G	G	-													ccggaagctgtgtttgttcaGggggcttgggtagtaagtag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:122629051_122629051AG>A	uc003efz.1	-	22	3699	c.3395_3395CT>T	c.(3394-3396)ctgfs	p.L1132fs	SEMA5B_uc011bju.1_Frame_Shift_Del_p.L1038fs|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003efy.1_Frame_Shift_Del_p.L110fs	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	1132					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTGTTTGTTCAGGGGGCTTGG	0.537													-	122629052	G	-	122629052	7	5	19	1	0	1	0	1	0	0	0	0	14038	991	35	0	65	0	SEMA5B	3	122629052	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	169535	122629052	75393378	665	14964											
KALRN	8997	broad.mit.edu	37	chr3	124174097	124174097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaggccacattcatgccaCggagataaggaaatgggtga	12	7	1	2	rs139468141		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:124174097C>T	uc003ehg.2	+	22	3747	c.3620C>T	c.(3619-3621)ACG>ATG	p.T1207M	KALRN_uc010hrv.1_Missense_Mutation_p.T1198M|KALRN_uc003ehf.1_Missense_Mutation_p.T1207M|KALRN_uc011bjy.1_Missense_Mutation_p.T1198M|KALRN_uc003ehh.1_Missense_Mutation_p.T553M	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1207	Spectrin 5.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						ATTCATGCCACGGAGATAAGG	0.493													T	124174097	C	T	124174097	3	4	19	1	0	0	0	0	1	0	0	0	7975	536	19	1	3706	1	KALRN	3	124174097	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1545045	124174097	73848333	666	14965											
HEG1	57493	broad.mit.edu	37	chr3	124728615	124728615	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagataaaggatccctgagTattgttgcacatggctgtgg	13	7	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:124728615T>C	uc003ehs.3	-	8	3195	c.3127A>G	c.(3127-3129)ACT>GCT	p.T1043A	HEG1_uc011bke.1_Missense_Mutation_p.T1143A	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	1043	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						GATCCCTGAGTATTGTTGCAC	0.453													C	124728615	T	C	124728615	3	2	19	1	0	0	0	0	1	0	0	0	7044	1638	57	3	1058	3	HEG1	3	124728615	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	554518	124728615	73293815	667	14966											
PLXNA1	5361	broad.mit.edu	37	chr3	126724974	126724974	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaaggagacagggaagaaGtttgcgtctgtggacttcgt	14	7	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:126724974G>A	uc003ejg.2	+	7	1885	c.1881G>A	c.(1879-1881)AAG>AAA	p.K627K		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	650	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CAGGGAAGAAGTTTGCGTCTG	0.597													A	126724974	G	A	126724974	2	1	19	1	0	0	0	0	0	0	0	1	12119	1020	36	4		4	PLXNA1	3	126724974	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1996359	126724974	71297456	668	14967											
PLXNA1	5361	broad.mit.edu	37	chr3	126731000	126731000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgcagtgccagaattcctCggtgaggtggccagggcagg	16	11	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:126731000C>T	uc003ejg.2	+	9	2247	c.2243C>T	c.(2242-2244)TCG>TTG	p.S748L		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	771	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CAGAATTCCTCGGTGAGGTGG	0.662													T	126731000	C	T	126731000	3	4	19	1	0	0	0	0	1	0	0	0	12119	898	31	1	2346	1	PLXNA1	3	126731000	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	6026	126731000	71291430	669	14968											
PLXNA1	5361	broad.mit.edu	37	chr3	126748300	126748300	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgacagacgggtcctcGgtggcactggtgcccaagca	15	12	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:126748300G>A	uc003ejg.2	+	26	4726	c.4722G>A	c.(4720-4722)TCG>TCA	p.S1574S	PLXNA1_uc003ejh.2_Silent_p.S242S	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1597	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		ACGGGTCCTCGGTGGCACTGG	0.682													A	126748300	G	A	126748300	2	1	19	1	0	0	0	0	0	0	0	1	12119	1103	39	1		1	PLXNA1	3	126748300	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	17300	126748300	71274130	670	14969											
MCM2	4171	broad.mit.edu	37	chr3	127338063	127338063	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagggtccacccgaagctcaAccagatggaccaggacaagg	13	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:127338063A>G	uc003ejp.2	+	13	2264	c.2207A>G	c.(2206-2208)AAC>AGC	p.N736S	MCM2_uc011bkm.1_Missense_Mutation_p.N606S|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.N689S	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	736					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						CCGAAGCTCAACCAGATGGAC	0.587													G	127338063	A	G	127338063	3	3	19	1	0	0	0	0	1	0	0	0	9386	43	2	3	2257	3	MCM2	3	127338063	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	589763	127338063	70684367	671	14970											
C3orf27	23434	broad.mit.edu	37	chr3	128292138	128292138	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgggtcatggaaaatagctGaaagcaaagttgctcagagg	13	6	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:128292138G>A	uc003ekq.2	-	3	1402	c.435C>T	c.(433-435)TTC>TTT	p.F145F		NM_007354	NP_031380	O15544	GR6_HUMAN	putative GR6 protein	145											0				GBM - Glioblastoma multiforme(114;0.176)		gaaaatagctgaaagcaaagt	0.313													A	128292138	G	A	128292138	2	1	19	1	0	0	0	0	0	0	0	1	2219	1281	45	4		4	C3orf27	3	128292138	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	954075	128292138	69730292	672	14971											
IFT122	55764	broad.mit.edu	37	chr3	129197018	129197018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattatcaagaagtttgagtGcaacctcctggtggtgtgtg	13	6	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:129197018G>A	uc003emm.2	+	12	1513	c.1307G>A	c.(1306-1308)TGC>TAC	p.C436Y	IFT122_uc003eml.2_Missense_Mutation_p.C487Y|IFT122_uc003emn.2_Missense_Mutation_p.C377Y|IFT122_uc003emo.2_Missense_Mutation_p.C325Y|IFT122_uc003emp.2_Missense_Mutation_p.C286Y|IFT122_uc010htc.2_Missense_Mutation_p.C428Y|IFT122_uc011bky.1_Missense_Mutation_p.C227Y|IFT122_uc003emq.2_Missense_Mutation_p.C276Y|IFT122_uc003emr.2_Missense_Mutation_p.C227Y|IFT122_uc011bla.1_Missense_Mutation_p.C227Y|IFT122_uc011bkx.1_Missense_Mutation_p.C276Y|IFT122_uc011bkz.1_RNA	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	436					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						AAGTTTGAGTGCAACCTCCTG	0.483													A	129197018	G	A	129197018	3	1	19	1	0	0	0	0	1	0	0	0	7555	1319	46	2	1510	2	IFT122	3	129197018	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	904880	129197018	68825412	673	14972											
RHO	6010	broad.mit.edu	37	chr3	129252455	129252455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcttgccttccagttccGgaactgcatgctcaccacca	7	17	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:129252455G>A	uc003emt.2	+	5	1036	c.941G>A	c.(940-942)CGG>CAG	p.R314Q		NM_000539	NP_000530	P08100	OPSD_HUMAN	rhodopsin	314	Cytoplasmic.				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding				0		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TTCCAGTTCCGGAACTGCATG	0.622													A	129252455	G	A	129252455	3	1	19	1	0	0	0	0	1	0	0	0	13330	1116	39	1	959	1	RHO	3	129252455	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	55437	129252455	68769975	674	14973											
TMCC1	23023	broad.mit.edu	37	chr3	129389611	129389611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgcctgctgctgaatggGtggcctgggagaagctggaa	17	9	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:129389611G>A	uc003emz.3	-	5	1574	c.1073C>T	c.(1072-1074)ACC>ATC	p.T358I	TMCC1_uc003emy.3_Missense_Mutation_p.T34I|TMCC1_uc011blc.1_Missense_Mutation_p.T179I|TMCC1_uc010htg.2_Missense_Mutation_p.T244I	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	358						integral to membrane				skin(1)	1						TGCTGAATGGGTGGCCTGGGA	0.527													A	129389611	G	A	129389611	3	1	19	1	0	0	0	0	1	0	0	0	15989	1261	44	4	900	4	TMCC1	3	129389611	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	137156	129389611	68632819	675	14974											
TRH	7200	broad.mit.edu	37	chr3	129695892	129695892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcctgaaaaacgccagcatCcgggcaagagggccctggga	14	12	0	2	rs147002606	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:129695892C>T	uc003enc.2	+	3	1123	c.562C>T	c.(562-564)CCG>TCG	p.P188S		NM_007117	NP_009048	P20396	TRH_HUMAN	thyrotropin-releasing hormone	188					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			ovary(1)	1						ACGCCAGCATCCGGGCAAGAG	0.532													T	129695892	C	T	129695892	3	4	19	1	0	0	0	0	1	0	0	0	16475	855	30	4	568	4	TRH	3	129695892	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	306281	129695892	68326538	676	14975											
PIK3R4	30849	broad.mit.edu	37	chr3	130454824	130454824	+	Frame_Shift_Del	DEL	A	A	-													aataatggtacaccttctgtAaaaagctcagctatcacaca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:130454824delA	uc003enj.2	-	3	1337	c.756delT	c.(754-756)TTTfs	p.F252fs		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	252	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						CACCTTCTGTAAAAAGCTCAG	0.318													-	130454824	A	-	130454824	7	5	19	1	0	1	0	1	0	0	0	0	11921	359	13	0	3392	0	PIK3R4	3	130454824	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	758932	130454824	67567606	677	14976											
PIK3R4	30849	broad.mit.edu	37	chr3	130463621	130463621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacattctcagtcttgatgtCcccatgacgaactccagatt	6	13	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:130463621C>T	uc003enj.2	-	2	1023	c.442G>A	c.(442-444)GAC>AAC	p.D148N		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	148	Protein kinase.	Proton acceptor (By similarity).			fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						GTCTTGATGTCCCCATGACGA	0.468													T	130463621	C	T	130463621	3	4	19	1	0	0	0	0	1	0	0	0	11921	855	30	4	3710	4	PIK3R4	3	130463621	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	8797	130463621	67558809	678	14977											
ATP2C1	27032	broad.mit.edu	37	chr3	130694309	130694309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaccaacaagagaaggcacGcatgggctcagcgggactca	13	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:130694309G>A	uc003enl.2	+	18	1769	c.1547G>A	c.(1546-1548)CGC>CAC	p.R516H	ATP2C1_uc011blg.1_Missense_Mutation_p.R550H|ATP2C1_uc011blh.1_Missense_Mutation_p.R511H|ATP2C1_uc011bli.1_Missense_Mutation_p.R550H|ATP2C1_uc003enk.2_Missense_Mutation_p.R500H|ATP2C1_uc003enm.2_Missense_Mutation_p.R516H|ATP2C1_uc003enn.2_Missense_Mutation_p.R500H|ATP2C1_uc003eno.2_Missense_Mutation_p.R516H|ATP2C1_uc003enp.2_Missense_Mutation_p.R516H|ATP2C1_uc003enq.2_Missense_Mutation_p.R516H|ATP2C1_uc003enr.2_Missense_Mutation_p.R516H|ATP2C1_uc003ens.2_Missense_Mutation_p.R516H|ATP2C1_uc003ent.2_Missense_Mutation_p.R516H|ATP2C1_uc003enu.2_Missense_Mutation_p.R194H	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	516	Cytoplasmic (By similarity).			R -> H (in Ref. 8; CAA09425).	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GAGAAGGCACGCATGGGCTCA	0.468									Hailey-Hailey_disease				A	130694309	G	A	130694309	3	1	19	1	0	0	0	0	1	0	0	0	1143	1087	38	1	1613	1	ATP2C1	3	130694309	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	230688	130694309	67328121	679	14978											
ASTE1	28990	broad.mit.edu	37	chr3	130735120	130735120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgcccagccgtgtctgcGccttcactctttggaactct	9	14	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:130735120G>A	uc003env.1	-	5	2019	c.1577C>T	c.(1576-1578)GCG>GTG	p.A526V	ATP2C1_uc011blh.1_3'UTR|ATP2C1_uc011bli.1_3'UTR|ATP2C1_uc003enm.2_3'UTR|ATP2C1_uc003enn.2_3'UTR|ATP2C1_uc003enp.2_3'UTR|ATP2C1_uc003enr.2_3'UTR|ATP2C1_uc003ens.2_3'UTR|ATP2C1_uc003ent.2_3'UTR|ASTE1_uc010htm.1_Missense_Mutation_p.A526V|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	526					DNA repair		nuclease activity				0						CCGTGTCTGCGCCTTCACTCT	0.488													A	130735120	G	A	130735120	3	1	19	1	0	0	0	0	1	0	0	0	1062	1087	38	1	470	1	ASTE1	3	130735120	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	40811	130735120	67287310	680	14979											
ASTE1	28990	broad.mit.edu	37	chr3	130743303	130743303	+	Frame_Shift_Del	DEL	T	T	-													ccttaacattttctcgatccTtttttgggaggtatttcaga					rs34815684		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:130743302_130743302CT>C	uc010htm.1	-	2	1056	c.849_849AG>G	c.(847-849)aagfs	p.K283fs	NEK11_uc003enx.3_5'Flank|NEK11_uc003eny.3_5'Flank|NEK11_uc003eoa.3_5'Flank|NEK11_uc003enz.3_5'Flank|NEK11_uc011blk.2_5'Flank|NEK11_uc011bll.2_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.2_5'Flank|ASTE1_uc003env.1_Frame_Shift_Del_p.K283fs|ASTE1_uc011blj.1_Non-coding_Transcript	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	Homo sapiens asteroid homolog 1 (Drosophila) (ASTE1), mRNA.	283					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTTCTCGATCCTTTTTTGGGA	0.448													-	130743303	T	-	130743303	7	5	19	1	0	1	0	1	0	0	0	0	1062	1609	56	0	1207	0	ASTE1	3	130743303	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	8183	130743303	67279127	681	14980											
CPNE4	131034	broad.mit.edu	37	chr3	131404727	131404727	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgactcttacctcagttcGgtgcaccagctgctgagttg	11	11	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:131404727G>A	uc003eok.2	-	6	1018	c.583C>T	c.(583-585)CGA>TGA	p.R195*	CPNE4_uc011blq.1_Nonsense_Mutation_p.R213*|CPNE4_uc003eol.2_Nonsense_Mutation_p.R213*|CPNE4_uc003eom.2_Nonsense_Mutation_p.R195*	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	195	C2 2.									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						ACCTCAGTTCGGTGCACCAGC	0.378													A	131404727	G	A	131404727	4	1	19	1	0	0	0	0	0	1	0	0	3814	1124	39	1	1134	1	CPNE4	3	131404727	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	661424	131404727	66617703	682	14981											
DNAJC13	23317	broad.mit.edu	37	chr3	132199275	132199275	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgtggacttgcttaccctTgcacatctccatgtaagccg	8	13	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:132199275T>C	uc003eor.2	+	26	2900	c.2835T>C	c.(2833-2835)CTT>CTC	p.L945L		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	945							heat shock protein binding			ovary(1)|breast(1)	2						TGCTTACCCTTGCACATCTCC	0.353													C	132199275	T	C	132199275	2	2	19	1	0	0	0	0	0	0	0	1	4632	1799	63	3		3	DNAJC13	3	132199275	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	794548	132199275	65823155	683	14982											
TOPBP1	11073	broad.mit.edu	37	chr3	133335731	133335731	+	Frame_Shift_Del	DEL	T	T	-													gataactgaaatatgtactgTttttttaattcttcatgagt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:133335731delT	uc003eps.2	-	23	3930	c.3798delA	c.(3796-3798)AAAfs	p.K1266fs		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1266	BRCT 7.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						ATATGTACTGTTTTTTTAATT	0.284								Other_conserved_DNA_damage_response_genes					-	133335731	T	-	133335731	7	5	19	1	0	1	0	1	0	0	0	0	16366	1722	60	0	794	0	TOPBP1	3	133335731	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	1136456	133335731	64686699	684	14983											
TF	7018	broad.mit.edu	37	chr3	133467393	133467393	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgttgcttgtgtgaagAaagcctcctaccttgattgc	10	10	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:133467393A>G	uc003epu.1	+	7	1909	c.181A>G	c.(181-183)AAA>GAA	p.K61E	TF_uc011bls.1_Missense_Mutation_p.K61E|TF_uc011blt.1_Intron|TF_uc003epw.1_Intron|TF_uc010htv.1_RNA|TF_uc003epv.1_Missense_Mutation_p.K61E	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	61	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TTGTGTGAAGAAAGCCTCCTA	0.502													G	133467393	A	G	133467393	3	3	19	1	0	0	0	0	1	0	0	0	15782	247	9	3	187	3	TF	3	133467393	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	131662	133467393	64555037	685	14984											
STAG1	10274	broad.mit.edu	37	chr3	136088059	136088060	+	Frame_Shift_Del	DEL	CT	CT	-													aacaccaaaggctgaaggccCtctctgccacctgtcattaa							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:136088058_136088059CCT>C	uc003era.1	-	23	2728_2729	c.2436_2437AGG>G	c.(2434-2439)gagggcfs	p.E812fs	STAG1_uc003erb.1_Frame_Shift_Del_p.E812fs|STAG1_uc003erc.1_Frame_Shift_Del_p.E586fs	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	812					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GGCTGAAGGCCCTCTCTGCCAC	0.416													-	136088060	CT	-	136088059	7	5	19	1	0	1	0	1	0	0	0	0	15241	680	24	0	1384	0	STAG1	3	136088059	Frame_Shift_Del	DEL	CT	TCGA-BR-4361-01A-01D-1158-08	2620666	136088059	61934371	686	14985											
COPB2	9276	broad.mit.edu	37	chr3	139094430	139094430	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttccaaagtgaagttTggtgacgaagagcccaactg	11	9	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:139094430T>C	uc003etf.3	-	6	661	c.531A>G	c.(529-531)CCA>CCG	p.P177P	COPB2_uc011bmv.1_Silent_p.P148P|COPB2_uc010hui.2_Silent_p.P148P|COPB2_uc011bmw.1_Silent_p.P177P	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	177	WD 4.				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2						AAGTGAAGTTTGGTGACGAAG	0.478													C	139094430	T	C	139094430	2	2	19	1	0	0	0	0	0	0	0	1	3729	1799	63	3		3	COPB2	3	139094430	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	3006371	139094430	58928000	687	14986											
SPSB4	92369	broad.mit.edu	37	chr3	140785515	140785515	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgagggcacactcagctTcatcgtggatggccagtacc	13	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:140785515T>C	uc003ett.2	+	2	823	c.569T>C	c.(568-570)TTC>TCC	p.F190S	SPSB4_uc010hum.2_Missense_Mutation_p.F190S	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box	190	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding				0						ACACTCAGCTTCATCGTGGAT	0.657													C	140785515	T	C	140785515	3	2	19	1	0	0	0	0	1	0	0	0	15114	1783	62	3	571	3	SPSB4	3	140785515	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1691085	140785515	57236915	688	14987											
XRN1	54464	broad.mit.edu	37	chr3	142102233	142102233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttttgatattggagaaaCgggagtcgaaagctcggatg	14	4	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:142102233C>T	uc003eus.2	-	22	2592	c.2525G>A	c.(2524-2526)CGT>CAT	p.R842H	XRN1_uc010huu.2_Missense_Mutation_p.R308H|XRN1_uc003eut.2_Missense_Mutation_p.R842H|XRN1_uc003euu.2_Missense_Mutation_p.R842H|XRN1_uc003euv.1_Missense_Mutation_p.R703H	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	842					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						ATTGGAGAAACGGGAGTCGAA	0.358													T	142102233	C	T	142102233	3	4	19	1	0	0	0	0	1	0	0	0	17456	536	19	1	2679	1	XRN1	3	142102233	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1316718	142102233	55920197	689	14988											
PCOLCE2	26577	broad.mit.edu	37	chr3	142567212	142567212	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggccaatgcgctggccatTggcatggccattgtacacat	12	12	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:142567212T>C	uc003evd.2	-	3	491	c.295A>G	c.(295-297)AAT>GAT	p.N99D		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	99	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			ovary(2)|skin(1)	3						CGCTGGCCATTGGCATGGCCA	0.517													C	142567212	T	C	142567212	3	2	19	1	0	0	0	0	1	0	0	0	11595	1812	63	3	980	3	PCOLCE2	3	142567212	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	464979	142567212	55455218	690	14989											
PAQR9	344838	broad.mit.edu	37	chr3	142681070	142681070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttactgcagaattcggagCtgtttaggaacttcctgatt	9	7	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:142681070C>T	uc003evg.2	-	1	1109	c.1109G>A	c.(1108-1110)AGC>AAC	p.S370N	PAQR9_uc003evf.1_RNA	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	370	Extracellular (Potential).					integral to membrane	receptor activity				0						GAATTCGGAGCTGTTTAGGAA	0.537													T	142681070	C	T	142681070	3	4	19	1	0	0	0	0	1	0	0	0	11442	797	28	2	28	2	PAQR9	3	142681070	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	113858	142681070	55341360	691	14990											
PAQR9	344838	broad.mit.edu	37	chr3	142681213	142681213	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acgtagtacacctggtcgtaGatgctgaggaaggtgaagat	14	6	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:142681213G>A	uc003evg.2	-	1	966	c.966C>T	c.(964-966)ATC>ATT	p.I322I	PAQR9_uc003evf.1_RNA	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	322	Helical; (Potential).					integral to membrane	receptor activity				0						CCTGGTCGTAGATGCTGAGGA	0.592													A	142681213	G	A	142681213	2	1	19	1	0	0	0	0	0	0	0	1	11442	932	33	4		4	PAQR9	3	142681213	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	143	142681213	55341217	692	14991											
PLSCR5	389158	broad.mit.edu	37	chr3	146322995	146322995	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttactcttacctttagagGccatgaagatgtctgagtca	8	8	3	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:146322995G>T	uc003ewb.2	-	1	1009	c.5C>A	c.(4-6)GCC>GAC	p.A2D	PLSCR5_uc010hvb.2_Missense_Mutation_p.A2D|PLSCR5_uc010hvc.2_Missense_Mutation_p.A2D	NM_001085420	NP_001078889	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	2											0						ACCTTTAGAGGCCATGAAGAT	0.358													T	146322995	G	T	146322995	3	4	19	1	0	0	0	0	1	0	0	0	12113	1203	42	5	838	5	PLSCR5	3	146322995	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3641782	146322995	51699435	693	14992											
HPS3	84343	broad.mit.edu	37	chr3	148880506	148880506	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctaaggatgaagatacaatTcctcagctcttggtagactt	9	8	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:148880506T>A	uc003ewu.1	+	13	2462	c.2322T>A	c.(2320-2322)ATT>ATA	p.I774I	HPS3_uc011bnq.1_Silent_p.I609I|HPS3_uc003ewv.1_RNA	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	774						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AAGATACAATTCCTCAGCTCT	0.418									Hermansky-Pudlak_syndrome				A	148880506	T	A	148880506	2	1	19	1	0	0	0	0	0	0	0	1	7340	1771	62	5		5	HPS3	3	148880506	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2557511	148880506	49141924	694	14993											
MED12L	116931	broad.mit.edu	37	chr3	151105758	151105758	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgctgtatcacacacAccccatgcccaagccccgca	5	21	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:151105758A>C	uc003eyp.2	+	35	5182	c.5144A>C	c.(5143-5145)CAC>CCC	p.H1715P	MED12L_uc011bnz.1_Missense_Mutation_p.H1575P|MED12L_uc003eyy.1_Missense_Mutation_p.H878P	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1715					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TATCACACACACCCCATGCCC	0.577													C	151105758	A	C	151105758	3	2	19	1	0	0	0	0	1	0	0	0	9429	159	6	5	5282	5	MED12L	3	151105758	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2225252	151105758	46916672	695	14994											
IGSF10	285313	broad.mit.edu	37	chr3	151161483	151161483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactgtgatctctttggtaCgtctctccaggatcctggga	11	10	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:151161483C>T	uc011bod.1	-	5	5252	c.5252G>A	c.(5251-5253)CGT>CAT	p.R1751H	IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1751	Ig-like C2-type 4.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCTTTGGTACGTCTCTCCAG	0.507													T	151161483	C	T	151161483	3	4	19	1	0	0	0	0	1	0	0	0	7597	536	19	1	2675	1	IGSF10	3	151161483	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	55725	151161483	46860947	696	14995											
DHX36	170506	broad.mit.edu	37	chr3	154002694	154002694	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtgctccaaaaagaatcAtttttccaatatgtggctca	6	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:154002694A>G	uc003ezy.3	-	18	2195	c.2114T>C	c.(2113-2115)ATG>ACG	p.M705T	DHX36_uc010hvq.2_Missense_Mutation_p.M691T|DHX36_uc003ezz.3_Missense_Mutation_p.M705T	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	705						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AAAAAGAATCATTTTTCCAAT	0.418													G	154002694	A	G	154002694	3	3	19	1	0	0	0	0	1	0	0	0	4509	217	8	3	944	3	DHX36	3	154002694	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2841211	154002694	44019736	697	14996											
PLCH1	23007	broad.mit.edu	37	chr3	155199765	155199765	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccatcaatttccacaagGctgctctccccagaattgaa	5	14	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:155199765G>A	uc011bok.1	-	23	4351	c.4074C>T	c.(4072-4074)AGC>AGT	p.S1358S	PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Silent_p.S1320S	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	1358					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTCCACAAGGCTGCTCTCCC	0.458													A	155199765	G	A	155199765	2	1	19	1	0	0	0	0	0	0	0	1	12037	1194	42	2		2	PLCH1	3	155199765	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1197071	155199765	42822665	698	14997											
PLCH1	23007	broad.mit.edu	37	chr3	155200765	155200765	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcactggaggaggatgatAactttttgttgaaatttaga	12	3	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:155200765A>G	uc011bok.1	-	23	3351	c.3074T>C	c.(3073-3075)TTA>TCA	p.L1025S	PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.L987S	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	1025					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGAGGATGATAACTTTTTGTT	0.418													G	155200765	A	G	155200765	3	3	19	1	0	0	0	0	1	0	0	0	12037	372	13	3	2011	3	PLCH1	3	155200765	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1000	155200765	42821665	699	14998											
SLC33A1	9197	broad.mit.edu	37	chr3	155571075	155571075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatttgttacaaaagtcggCagattcaagggccaaaaaca	8	7	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:155571075C>T	uc003fan.3	-	1	1093	c.712G>A	c.(712-714)GCC>ACC	p.A238T	SLC33A1_uc003fao.1_Missense_Mutation_p.A238T	NM_004733	NP_004724	O00400	ACATN_HUMAN	acetyl-coenzyme A transporter	238	Helical; (Potential).				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			ovary(2)|large_intestine(1)|pancreas(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAAAAGTCGGCAGATTCAAGG	0.408													T	155571075	C	T	155571075	3	4	19	1	0	0	0	0	1	0	0	0	14566	710	25	2	961	2	SLC33A1	3	155571075	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	370310	155571075	42451355	700	14999											
CCNL1	57018	broad.mit.edu	37	chr3	156867305	156867305	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttttggaagcctgttgtcTatcctcaggttcttttttga	9	8	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:156867305T>C	uc003fbf.2	-	9	1701	c.1102A>G	c.(1102-1104)AGA>GGA	p.R368G	CCNL1_uc003fbd.1_Missense_Mutation_p.R368G|CCNL1_uc003fbe.2_Missense_Mutation_p.R162G|CCNL1_uc003fbg.2_RNA|CCNL1_uc011bor.1_RNA|CCNL1_uc003fbi.1_Missense_Mutation_p.R213G	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	cyclin L1	368					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			lung(3)|breast(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GCCTGTTGTCTATCCTCAGGT	0.363													C	156867305	T	C	156867305	3	2	19	1	0	0	0	0	1	0	0	0	2931	1530	53	3	490	3	CCNL1	3	156867305	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1296230	156867305	41155125	701	15000											
SCHIP1	29970	broad.mit.edu	37	chr3	159605501	159605501	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttttccctttgcagagcaAacagagttcttcctattctg	6	11	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:159605501A>G	uc003fcs.1	+	5	1067	c.1001A>G	c.(1000-1002)AAA>AGA	p.K334R	SCHIP1_uc003fcq.1_Missense_Mutation_p.K410R|SCHIP1_uc003fcr.1_Missense_Mutation_p.K323R|SCHIP1_uc003fct.1_Missense_Mutation_p.K321R|SCHIP1_uc010hvz.1_Missense_Mutation_p.K294R|SCHIP1_uc003fcu.1_Missense_Mutation_p.K91R|SCHIP1_uc003fcv.1_Missense_Mutation_p.K107R	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	schwannomin interacting protein 1	334						cytoplasm	identical protein binding|protein binding			ovary(1)|central_nervous_system(1)	2			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			TTGCAGAGCAAACAGAGTTCT	0.463													G	159605501	A	G	159605501	3	3	19	1	0	0	0	0	1	0	0	0	13904	14	1	3	1019	3	SCHIP1	3	159605501	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2738196	159605501	38416929	702	15001											
SI	6476	broad.mit.edu	37	chr3	164727162	164727162	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgaagaaatctgggaAagctacatgagctctggaag	12	7	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:164727162A>C	uc003fei.2	-	35	4146	c.4084T>G	c.(4084-4086)TTC>GTC	p.F1362V		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1362	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AAATCTGGGAAAGCTACATGA	0.378										HNSCC(35;0.089)			C	164727162	A	C	164727162	3	2	19	1	0	0	0	0	1	0	0	0	14297	14	1	5	1455	5	SI	3	164727162	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	5121661	164727162	33295268	703	15002											
SLITRK3	22865	broad.mit.edu	37	chr3	164907875	164907875	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggcagtataaggaatgcgTtccagccaactcttcagttg	11	9	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:164907875T>C	uc003fej.3	-	2	1188	c.744A>G	c.(742-744)GAA>GAG	p.E248E	SLITRK3_uc003fek.2_Silent_p.E248E	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	248	LRRCT 1.|Extracellular (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						AAGGAATGCGTTCCAGCCAAC	0.478										HNSCC(40;0.11)			C	164907875	T	C	164907875	2	2	19	1	0	0	0	0	0	0	0	1	14744	1722	60	3		3	SLITRK3	3	164907875	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	180713	164907875	33114555	704	15003											
WDR49	151790	broad.mit.edu	37	chr3	167217955	167217955	+	Frame_Shift_Del	DEL	G	G	-													acttacttttaaaaagtgacGgggcctccagaatttgggga					rs146880701		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:167217954_167217954CG>C	uc003fev.1	-	13	2266	c.1962_1962CG>G	c.(1960-1962)ccgfs	p.P654fs	WDR49_uc003feu.1_Frame_Shift_Del_p.P479fs|WDR49_uc011bpd.1_Frame_Shift_Del_p.P619fs|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	654								p.P654Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TAAAAAGTGACGGGGCCTCCA	0.403													-	167217955	G	-	167217955	7	5	19	1	0	1	0	1	0	0	0	0	17299	1116	39	0	140	0	WDR49	3	167217955	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	2310080	167217955	30804475	705	15004											
MYNN	55892	broad.mit.edu	37	chr3	169492087	169492087	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccattctgatatcaaaatgCagtattcgcaccactgtgag	7	10	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:169492087C>T	uc003fft.2	+	2	433	c.4C>T	c.(4-6)CAG>TAG	p.Q2*	MYNN_uc011bpm.1_5'UTR|MYNN_uc003ffu.2_Nonsense_Mutation_p.Q2*|MYNN_uc003ffv.2_5'UTR|MYNN_uc010hwo.2_Nonsense_Mutation_p.Q2*	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	myoneurin	2						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TATCAAAATGCAGTATTCGCA	0.408													T	169492087	C	T	169492087	4	4	19	1	0	0	0	0	0	1	0	0	10061	711	25	2	6	2	MYNN	3	169492087	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2274132	169492087	28530343	706	15005											
LRRIQ4	344657	broad.mit.edu	37	chr3	169540249	169540249	+	Frame_Shift_Del	DEL	C	C	-													cgaaaccagtttgaagttttCccccaggagctctgtgttct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:169540248_169540248TC>T	uc003fgb.3	+	0	539	c.539_539TC>T	c.(538-540)ttcfs	p.F180fs		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	180										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTTGAAGTTTTCCCCCAGGAG	0.517													-	169540249	C	-	169540249	7	5	19	1	0	1	0	1	0	0	0	0	9031	854	30	0	542	0	LRRIQ4	3	169540249	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	48162	169540249	28482181	707	15006											
LRRIQ4	344657	broad.mit.edu	37	chr3	169546691	169546691	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagggattcaaacttaccTatgtgccagaacacattagg	8	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:169546691T>C	uc003fgb.2	+	2	1165	c.1165T>C	c.(1165-1167)TAT>CAT	p.Y389H		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	389	LRR 16.										0						CAAACTTACCTATGTGCCAGA	0.433													C	169546691	T	C	169546691	3	2	19	1	0	0	0	0	1	0	0	0	9031	1522	53	3	1171	3	LRRIQ4	3	169546691	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	6442	169546691	28475739	708	15007											
PLD1	5337	broad.mit.edu	37	chr3	171338199	171338199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taataacagtgttatcatcaGcaattaacaacttgctgtgg	7	7	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:171338199G>A	uc003fhs.2	-	24	2821	c.2705C>T	c.(2704-2706)GCT>GTT	p.A902V	PLD1_uc003fht.2_Missense_Mutation_p.A864V|PLD1_uc003fhu.3_Missense_Mutation_p.A196V	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	902	Catalytic.|PLD phosphodiesterase 2.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTTATCATCAGCAATTAACAA	0.368													A	171338199	G	A	171338199	3	1	19	1	0	0	0	0	1	0	0	0	12045	971	34	2	535	2	PLD1	3	171338199	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1791508	171338199	26684231	709	15008											
PLD1	5337	broad.mit.edu	37	chr3	171392379	171392379	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcagaaaaggataagaaaGggaccgatattttgatttca	10	4	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:171392379G>T	uc003fhs.2	-	19	2256	c.2140C>A	c.(2140-2142)CTT>ATT	p.L714I	PLD1_uc003fht.2_Missense_Mutation_p.L676I|PLD1_uc003fhu.3_Missense_Mutation_p.L8I|PLD1_uc003fhv.1_Missense_Mutation_p.L39I	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	714	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GGATAAGAAAGGGACCGATAT	0.333													T	171392379	G	T	171392379	3	4	19	1	0	0	0	0	1	0	0	0	12045	1000	35	5	1120	5	PLD1	3	171392379	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	54180	171392379	26630051	710	15009											
FNDC3B	64778	broad.mit.edu	37	chr3	171965350	171965350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatagtactggagtccgcCgggtggtggtcacaccccag	14	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:171965350C>T	uc003fhy.2	+	5	464	c.292C>T	c.(292-294)CGG>TGG	p.R98W	FNDC3B_uc003fhz.3_Missense_Mutation_p.R98W|FNDC3B_uc003fia.2_Missense_Mutation_p.R29W	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	98						endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TGGAGTCCGCCGGGTGGTGGT	0.458													T	171965350	C	T	171965350	3	4	19	1	0	0	0	0	1	0	0	0	5970	643	23	1	306	1	FNDC3B	3	171965350	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	572971	171965350	26057080	711	15010											
FNDC3B	64778	broad.mit.edu	37	chr3	172003767	172003767	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattctttcgggaatagagaAaccacaggtatgtcttctgg	10	8	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:172003767A>G	uc003fhy.2	+	7	1014	c.842A>G	c.(841-843)AAA>AGA	p.K281R	FNDC3B_uc003fhz.3_Missense_Mutation_p.K281R|FNDC3B_uc003fia.2_Missense_Mutation_p.K212R	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	281	Fibronectin type-III 1.					endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GGAATAGAGAAACCACAGGTA	0.348													G	172003767	A	G	172003767	3	3	19	1	0	0	0	0	1	0	0	0	5970	14	1	3	864	3	FNDC3B	3	172003767	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	38417	172003767	26018663	712	15011											
NLGN1	22871	broad.mit.edu	37	chr3	173996754	173996754	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgttggccacaaaagttggTtgcaatgtttcagatacagt	10	6	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:173996754T>C	uc003fio.1	+	6	1386	c.963T>C	c.(961-963)GGT>GGC	p.G321G	NLGN1_uc010hww.1_Silent_p.G361G|NLGN1_uc003fip.1_Silent_p.G321G	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	338	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAAAAGTTGGTTGCAATGTTT	0.413													C	173996754	T	C	173996754	2	2	19	1	0	0	0	0	0	0	0	1	10461	1712	60	3		3	NLGN1	3	173996754	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1992987	173996754	24025676	713	15012											
NLGN1	22871	broad.mit.edu	37	chr3	173998565	173998565	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattctgtacctgtcacgtcAgcctttcccactgccaagca	6	15	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:173998565A>G	uc003fio.1	+	7	2367	c.1944A>G	c.(1942-1944)TCA>TCG	p.S648S	NLGN1_uc003fip.1_Silent_p.S648S	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	665	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTGTCACGTCAGCCTTTCCCA	0.433													G	173998565	A	G	173998565	2	3	19	1	0	0	0	0	0	0	0	1	10461	175	7	3		3	NLGN1	3	173998565	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1811	173998565	24023865	714	15013											
NAALADL2	254827	broad.mit.edu	37	chr3	174951986	174951986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcctattctgccaaaggaActctcaaggtaatatgacca	7	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:174951986A>G	uc003fit.2	+	3	898	c.811A>G	c.(811-813)ACT>GCT	p.T271A	NAALADL2_uc003fiu.1_Missense_Mutation_p.T264A|NAALADL2_uc010hwy.1_Missense_Mutation_p.T93A	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	271	Extracellular (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGCCAAAGGAACTCTCAAGGT	0.398													G	174951986	A	G	174951986	3	3	19	1	0	0	0	0	1	0	0	0	10130	43	2	3	821	3	NAALADL2	3	174951986	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	953421	174951986	23070444	715	15014											
NAALADL2	254827	broad.mit.edu	37	chr3	174974236	174974236	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgagttatggaatggcagatGatttaaaaaggattaggaaa	12	1	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:174974236G>A	uc003fit.2	+	4	943	c.856G>A	c.(856-858)GAT>AAT	p.D286N	NAALADL2_uc003fiu.1_Missense_Mutation_p.D279N|NAALADL2_uc010hwy.1_Missense_Mutation_p.D108N|NAALADL2_uc010hwz.1_5'UTR	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	286	Extracellular (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AATGGCAGATGATTTAAAAAG	0.363													A	174974236	G	A	174974236	3	1	19	1	0	0	0	0	1	0	0	0	10130	1290	45	4	870	4	NAALADL2	3	174974236	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	22250	174974236	23048194	716	15015											
NAALADL2	254827	broad.mit.edu	37	chr3	175042056	175042056	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgaatcctagccatgatacCttcatggtgtcactgaatcc	8	11	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:175042056C>A	uc003fit.2	+	5	1119	c.1032C>A	c.(1030-1032)ACC>ACA	p.T344T	NAALADL2_uc003fiu.1_Silent_p.T337T|NAALADL2_uc010hwy.1_Silent_p.T166T|NAALADL2_uc010hwz.1_Intron	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	344	Extracellular (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GCCATGATACCTTCATGGTGT	0.423													A	175042056	C	A	175042056	2	1	19	1	0	0	0	0	0	0	0	1	10130	668	24	5		5	NAALADL2	3	175042056	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	67820	175042056	22980374	717	15016											
TBL1XR1	79718	broad.mit.edu	37	chr3	176769342	176769342	+	Frame_Shift_Del	DEL	T	T	-													catttgctgtgttttctccaTtttttgcagatccttgttgg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:176769341_176769341AT>A	uc003fiw.4	-	4	638	c.378_378AT>T	c.(376-378)aatfs	p.N126fs	TBL1XR1_uc003fix.4_Frame_Shift_Del_p.N126fs|TBL1XR1_uc011bpz.2_5'UTR|TBL1XR1_uc003fiy.2_Frame_Shift_Del_p.N126fs	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	Homo sapiens transducin (beta)-like 1 X-linked receptor 1 (TBL1XR1), mRNA.	126					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TGTTTTCTCCATTTTTTGCAG	0.413													-	176769342	T	-	176769342	7	5	19	1	0	1	0	1	0	0	0	0	15637	1493	52	0	1215	0	TBL1XR1	3	176769342	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	1727286	176769342	21253088	718	15017											
PIK3CA	5290	broad.mit.edu	37	chr3	178917659	178917659	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatcttcaccagaattgccAaagcacatatataataaatt	4	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:178917659A>G	uc003fjk.2	+	3	691	c.534A>G	c.(532-534)CCA>CCG	p.P178P		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	178	PI3K-RBD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CAGAATTGCCAAAGCACATAT	0.328		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178917659	A	G	178917659	2	3	19	1	0	0	0	0	0	0	0	1	11913	117	5	3		3	PIK3CA	3	178917659	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2148317	178917659	19104771	719	15018											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952085	A	G	178952085	3	3	19	1	0	0	0	0	1	0	0	0	11913	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	34426	178952085	19070345	720	15019											
PEX5L	51555	broad.mit.edu	37	chr3	179519754	179519754	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccagagattgcaggatgaggAacttgctgctgattcctgct	12	9	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:179519754A>T	uc003fki.1	-	15	1873	c.1743T>A	c.(1741-1743)GTT>GTA	p.V581V	PEX5L_uc011bqd.1_Silent_p.V538V|PEX5L_uc011bqe.1_Silent_p.V389V|PEX5L_uc011bqf.1_Silent_p.V473V|PEX5L_uc003fkj.1_Silent_p.V546V|PEX5L_uc010hxd.1_Silent_p.V579V|PEX5L_uc011bqg.1_Silent_p.V557V|PEX5L_uc011bqh.1_Silent_p.V522V	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	581					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CAGGATGAGGAACTTGCTGCT	0.463													T	179519754	A	T	179519754	2	4	19	1	0	0	0	0	0	0	0	1	11749	233	9	5		5	PEX5L	3	179519754	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	567669	179519754	18502676	721	15020											
CCDC39	339829	broad.mit.edu	37	chr3	180377245	180377246	+	Frame_Shift_Del	DEL	CA	CA	-													aaacaactactttaccaaagCacagttatctatgtctccat							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:180377245_180377246delCA	uc010hxe.2	-	6	847_848	c.732_733delTG	c.(730-735)TGTGCTfs	p.C244fs	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	244_245	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTACCAAAGCACAGTTATCTA	0.327													-	180377246	CA	-	180377245	7	5	19	1	0	1	0	1	0	0	0	0	2811	710	25	0	2152	0	CCDC39	3	180377245	Frame_Shift_Del	DEL	CA	TCGA-BR-4361-01A-01D-1158-08	857491	180377245	17645185	722	15021											
DNAJC19	131118	broad.mit.edu	37	chr3	180703754	180703754	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcataattcgtcgatgagcAtctcttattttccctttatt	5	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:180703754A>G	uc003fkt.2	-	5	380	c.240T>C	c.(238-240)GAT>GAC	p.D80D	DNAJC19_uc003fku.2_RNA	NM_145261	NP_660304	Q96DA6	TIM14_HUMAN	DnaJ homolog, subfamily C, member 19	80	J.|Mitochondrial matrix (Potential).				genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding				0	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			GTCGATGAGCATCTCTTATTT	0.333													G	180703754	A	G	180703754	2	3	19	1	0	0	0	0	0	0	0	1	4638	214	8	3		3	DNAJC19	3	180703754	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	326509	180703754	17318676	723	15022											
KLHL6	89857	broad.mit.edu	37	chr3	183209880	183209880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgataacctcgttcttctcGtcccgcccgccggtgatgta	10	15	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:183209880G>A	uc003flr.2	-	7	1759	c.1701C>T	c.(1699-1701)GAC>GAT	p.D567D	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_RNA	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	567	Kelch 6.									haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CGTTCTTCTCGTCCCGCCCGC	0.672													A	183209880	G	A	183209880	2	1	19	1	0	0	0	0	0	0	0	1	8393	1136	40	1		1	KLHL6	3	183209880	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2506126	183209880	14812550	724	15023											
YEATS2	55689	broad.mit.edu	37	chr3	183521069	183521069	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgccagctgcttttctgcAaagtctgtggagcagtacta	11	9	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:183521069A>G	uc003fly.2	+	26	3723	c.3528A>G	c.(3526-3528)GCA>GCG	p.A1176A		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1176					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCTTTTCTGCAAAGTCTGTGG	0.507													G	183521069	A	G	183521069	2	3	19	1	0	0	0	0	0	0	0	1	17469	117	5	3		3	YEATS2	3	183521069	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	311189	183521069	14501361	725	15024											
ABCC5	10057	broad.mit.edu	37	chr3	183699621	183699621	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttcatccgtggcggccacGcattttctcctgaaatatgc	9	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:183699621G>A	uc003fmg.2	-	8	1206	c.1041C>T	c.(1039-1041)TGC>TGT	p.C347C	ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Silent_p.C347C	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	347	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGGCGGCCACGCATTTTCTCC	0.413													A	183699621	G	A	183699621	2	1	19	1	0	0	0	0	0	0	0	1	56	1079	38	1		1	ABCC5	3	183699621	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	178552	183699621	14322809	726	15025											
DVL3	1857	broad.mit.edu	37	chr3	183881465	183881465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtggtgaaggaggagatctCggatgacaatgccaagctac	14	7	1	3	rs143411607		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:183881465C>T	uc003fms.2	+	2	322	c.182C>T	c.(181-183)TCG>TTG	p.S61L	DVL3_uc011bqw.1_Missense_Mutation_p.S61L|DVL3_uc003fmt.2_5'UTR|DVL3_uc003fmu.2_5'Flank	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	61	DIX.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GAGGAGATCTCGGATGACAAT	0.567													T	183881465	C	T	183881465	3	4	19	1	0	0	0	0	1	0	0	0	4837	893	31	1	188	1	DVL3	3	183881465	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	181844	183881465	14140965	727	15026											
PSMD2	5708	broad.mit.edu	37	chr3	184019395	184019395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgagtgcctcaagtatcGgctagtgggctcccaggagg	16	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:184019395G>A	uc003fnn.1	+	4	461	c.428G>A	c.(427-429)CGG>CAG	p.R143Q	PSMD2_uc011brj.1_5'UTR|PSMD2_uc011brk.1_Missense_Mutation_p.R13Q	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	143					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CTCAAGTATCGGCTAGTGGGC	0.493													A	184019395	G	A	184019395	3	1	19	1	0	0	0	0	1	0	0	0	12698	1116	39	1	442	1	PSMD2	3	184019395	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	137930	184019395	14003035	728	15027											
PSMD2	5708	broad.mit.edu	37	chr3	184019718	184019718	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagcctctgctcactctggTgaaggaaatcgtcccctata	10	12	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:184019718T>C	uc003fnn.1	+	5	596	c.563T>C	c.(562-564)GTG>GCG	p.V188A	PSMD2_uc011brj.1_Missense_Mutation_p.V29A|PSMD2_uc011brk.1_Missense_Mutation_p.V58A	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	188					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CTCACTCTGGTGAAGGAAATC	0.542													C	184019718	T	C	184019718	3	2	19	1	0	0	0	0	1	0	0	0	12698	1696	59	3	581	3	PSMD2	3	184019718	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	323	184019718	14002712	729	15028											
VPS8	23355	broad.mit.edu	37	chr3	184769776	184769776	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccagaatgagaacttccAgctgcagctcattcctccac	6	15	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:184769776A>G	uc003fpb.1	+	47	4415	c.4244A>G	c.(4243-4245)CAG>CGG	p.Q1415R	VPS8_uc010hyd.1_Missense_Mutation_p.Q1325R|VPS8_uc010hye.1_Missense_Mutation_p.Q844R	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	1417							zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GAGAACTTCCAGCTGCAGCTC	0.567													G	184769776	A	G	184769776	3	3	19	1	0	0	0	0	1	0	0	0	17215	188	7	3	4432	3	VPS8	3	184769776	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	750058	184769776	13252654	730	15029											
TMEM41A	90407	broad.mit.edu	37	chr3	185214708	185214708	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggtgctccttccggtActctcgaaggacctcagaga	12	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:185214708A>G	uc003fpj.2	-	2	277	c.181T>C	c.(181-183)TAC>CAC	p.Y61H	TMEM41A_uc003fpk.2_Missense_Mutation_p.Y61H|TMEM41A_uc003fpl.2_Missense_Mutation_p.Y61H	NM_080652	NP_542383	Q96HV5	TM41A_HUMAN	transmembrane protein 41A precursor	61						integral to membrane					0	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TCCTTCCGGTACTCTCGAAGG	0.587													G	185214708	A	G	185214708	3	3	19	1	0	0	0	0	1	0	0	0	16161	391	14	3	629	3	TMEM41A	3	185214708	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	444932	185214708	12807722	731	15030											
DGKG	1608	broad.mit.edu	37	chr3	185867951	185867951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggccccatcatcatgggCgcttggttcttgtgagtaat	13	9	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:185867951C>T	uc003fqa.2	-	25	2841	c.2304G>A	c.(2302-2304)GCG>GCA	p.A768A	DGKG_uc003fqb.2_Silent_p.A729A|DGKG_uc003fqc.2_Silent_p.A743A|DGKG_uc011brx.1_Silent_p.A709A	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	768					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			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TCATCATGGGCGCTTGGTTCT	0.458													T	185867951	C	T	185867951	2	4	19	1	0	0	0	0	0	0	0	1	4469	755	27	1		1	DGKG	3	185867951	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	653243	185867951	12154479	732	15031											
TBCCD1	55171	broad.mit.edu	37	chr3	186274567	186274567	+	Splice_Site	DEL	A	A	-													actgtaatcattccagttctAaaaaaaagttaaaagaaagc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:186274566_186274566TA>T	uc003fqg.3	-	4	622	c.493_splice	c.e4-1	p.N165_splice	TBCCD1_uc011bry.2_Splice_Site_p.N165_splice|TBCCD1_uc003fqh.3_Splice_Site_p.N69_splice	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	Homo sapiens TBCC domain containing 1 (TBCCD1), transcript variant 2, mRNA.	165					cell morphogenesis|maintenance of Golgi location|maintenance of centrosome location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		ATTCCAGTTCTAAAAAAAAGT	0.328													-	186274567	A	-	186274567	8	5	19	1	0	1	0	1	0	0	1	0	15629	377	13	0		0	TBCCD1	3	186274567	Splice_Site	DEL	A	TCGA-BR-4361-01A-01D-1158-08	406616	186274567	11747863	733	15032											
DNAJB11	51726	broad.mit.edu	37	chr3	186301745	186301745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggctttgagatggatattActcacttggatggtcacaag	11	6	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:186301745A>G	uc003fqi.2	+	8	1052	c.832A>G	c.(832-834)ACT>GCT	p.T278A		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	278					protein folding	endoplasmic reticulum lumen	heat shock protein binding			ovary(1)|lung(1)	2	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		GATGGATATTACTCACTTGGA	0.383													G	186301745	A	G	186301745	3	3	19	1	0	0	0	0	1	0	0	0	4616	391	14	3	862	3	DNAJB11	3	186301745	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	27178	186301745	11720685	734	15033											
HRG	3273	broad.mit.edu	37	chr3	186395646	186395646	+	Frame_Shift_Del	DEL	T	T	-													ggtttccacaagtttccatgTtttttacacatacatttcca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:186395646delT	uc003fqq.2	+	7	1575	c.1552delT	c.(1552-1554)TTTfs	p.F518fs		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	518					fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		AGTTTCCATGTTTTTTACACA	0.348													-	186395646	T	-	186395646	7	5	19	1	0	1	0	1	0	0	0	0	7354	1725	60	0	1578	0	HRG	3	186395646	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	93901	186395646	11626784	735	15034											
KNG1	3827	broad.mit.edu	37	chr3	186459742	186459742	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatggaaagcacaatggttgGaaaacagagcatttggcaag	12	5	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:186459742G>A	uc011bsa.1	+	10	1769	c.1557G>A	c.(1555-1557)TGG>TGA	p.W519*	KNG1_uc003fqr.2_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	kininogen 1 isoform 1	519					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			skin(1)	1	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	ACAATGGTTGGAAAACAGAGC	0.463													A	186459742	G	A	186459742	4	1	19	1	0	0	0	0	0	1	0	0	8427	1183	41	4	1595	4	KNG1	3	186459742	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	64096	186459742	11562688	736	15035											
LEPREL1	55214	broad.mit.edu	37	chr3	189711973	189711973	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatagggtccggcattctgTatcttcaacgaaatattctc	7	10	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:189711973T>C	uc011bsk.1	-	3	1121	c.733A>G	c.(733-735)ACA>GCA	p.T245A	LEPREL1_uc003fsg.2_Missense_Mutation_p.T64A	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	245					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CGGCATTCTGTATCTTCAACG	0.418													C	189711973	T	C	189711973	3	2	19	1	0	0	0	0	1	0	0	0	8730	1638	57	3	1445	3	LEPREL1	3	189711973	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	3252231	189711973	8310457	737	15036											
GP5	2814	broad.mit.edu	37	chr3	194117602	194117602	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgggggcccgggcactcCgcgtcaccccccggcagggc	15	21	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:194117602C>T	uc003ftv.1	-	2	1441	c.1410G>A	c.(1408-1410)GCG>GCA	p.A470A		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	470	Extracellular (Potential).|LRRCT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				skin(2)|breast(1)	3	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		ccgggcACTCCGCGTCACCCC	0.612													T	194117602	C	T	194117602	2	4	19	1	0	0	0	0	0	0	0	1	6583	639	23	1		1	GP5	3	194117602	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	4405629	194117602	3904828	738	15037											
LSG1	55341	broad.mit.edu	37	chr3	194369411	194369411	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgaatcacaacttacaTccataagctgtcaacagttc	5	11	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:194369411T>C	uc003fui.2	-	11	1857	c.1542A>G	c.(1540-1542)GGA>GGG	p.G514G		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	514					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		ACAACTTACATCCATAAGCTG	0.368													C	194369411	T	C	194369411	2	2	19	1	0	0	0	0	0	0	0	1	9049	1449	50	3		3	LSG1	3	194369411	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	251809	194369411	3653019	739	15038											
LSG1	55341	broad.mit.edu	37	chr3	194371733	194371733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacagtcacacaggcagagGccaggctccacatagagagt	13	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:194371733G>A	uc003fui.2	-	10	1611	c.1296C>T	c.(1294-1296)GGC>GGT	p.G432G		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	432	G.				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		ACAGGCAGAGGCCAGGCTCCA	0.493													A	194371733	G	A	194371733	2	1	19	1	0	0	0	0	0	0	0	1	9049	1190	42	2		2	LSG1	3	194371733	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2322	194371733	3650697	740	15039											
FAM43A	131583	broad.mit.edu	37	chr3	194407863	194407863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagcaagagcgaggcggGccgtcagggcaccaagatga	17	10	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:194407863G>A	uc003fuj.2	+	1	1242	c.308G>A	c.(307-309)GGC>GAC	p.G103D		NM_153690	NP_710157	Q8N2R8	FA43A_HUMAN	hypothetical protein LOC131583	103										central_nervous_system(1)	1	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		AGCGAGGCGGGCCGTCAGGGC	0.682													A	194407863	G	A	194407863	3	1	19	1	0	0	0	0	1	0	0	0	5562	1203	42	2	310	2	FAM43A	3	194407863	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	36130	194407863	3614567	741	15040											
C3orf21	152002	broad.mit.edu	37	chr3	194790661	194790661	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaggtggccgcggaagtggTacttgtcggccagctgctgc	17	11	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:194790661T>C	uc003fum.3	-	4	1073	c.965A>G	c.(964-966)TAC>TGC	p.Y322C	C3orf21_uc003ful.2_Missense_Mutation_p.Y119C|C3orf21_uc003fuk.2_Missense_Mutation_p.Y116C	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	hypothetical protein LOC152002	322						integral to membrane	transferase activity, transferring glycosyl groups				0	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)		GCGGAAGTGGTACTTGTCGGC	0.642													C	194790661	T	C	194790661	3	2	19	1	0	0	0	0	1	0	0	0	2214	1638	57	3	220	3	C3orf21	3	194790661	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	382798	194790661	3231769	742	15041											
PPP1R2	5504	broad.mit.edu	37	chr3	195245976	195245976	+	Frame_Shift_Del	DEL	T	T	-													ttttcatttcaaattgtcgcTttttttctataagatgcaaa							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:195245976delT	uc003fup.2	-	5	786	c.410delA	c.(409-411)AAGfs	p.K137fs		NM_006241	NP_006232	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory subunit 2	137					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			urinary_tract(1)	1	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		AAATTGTCGCTTTTTTTCTAT	0.244													-	195245976	T	-	195245976	7	5	19	1	0	1	0	1	0	0	0	0	12370	1609	56	0	215	0	PPP1R2	3	195245976	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	455315	195245976	2776454	743	15042											
TFRC	7037	broad.mit.edu	37	chr3	195798336	195798336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggtaaacaagtctaccGttcttatcaactatgatcac	5	11	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:195798336G>A	uc003fvz.3	-	6	901	c.618C>T	c.(616-618)AAC>AAT	p.N206N	TFRC_uc003fwa.3_Silent_p.N206N|TFRC_uc010hzy.2_Silent_p.N125N|TFRC_uc011btr.1_Translation_Start_Site	NM_003234	NP_003225	P02786	TFR1_HUMAN	transferrin receptor	206	Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			ovary(3)	3	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		CAAGTCTACCGTTCTTATCAA	0.388			T	BCL6	NHL								A	195798336	G	A	195798336	2	1	19	1	0	0	0	0	0	0	0	1	15809	1136	40	1		1	TFRC	3	195798336	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	552360	195798336	2224094	744	15043											
FYTTD1	84248	broad.mit.edu	37	chr3	197505338	197505338	+	Splice_Site	DEL	A	A	-													aacagtgtcggaaaacaggtAaaaaaacgttttctgtattt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:197505337_197505337TA>T	uc003fyi.2	+	8	1077	c.858_splice	c.e8+2	p.Q286_splice	FYTTD1_uc011bui.1_Splice_Site_p.Q260_splice|FYTTD1_uc011buj.1_Splice_Site|FYTTD1_uc011buk.1_Splice_Site_p.Q219_splice	NM_032288	NP_115664	Q96QD9	UIF_HUMAN	Homo sapiens forty-two-three domain containing 1 (FYTTD1), transcript variant 1, mRNA.	286					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		GGAAAACAGGTAAAAAAACGT	0.343													-	197505338	A	-	197505338	8	5	19	1	0	1	0	1	0	0	1	0	6127	377	13	0		0	FYTTD1	3	197505338	Splice_Site	DEL	A	TCGA-BR-4361-01A-01D-1158-08	1707002	197505338	517092	745	15044											
PIGG	54872	broad.mit.edu	37	chr4	520905	520905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctggtgcagagggggtGctcccctgtgtccaaggctg	17	10	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:520905G>A	uc003gak.3	+	10	2283	c.2147G>A	c.(2146-2148)TGC>TAC	p.C716Y	PIGG_uc003gaj.3_Missense_Mutation_p.C708Y|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.C583Y|PIGG_uc003gal.3_Missense_Mutation_p.C627Y	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	716	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						CAGAGGGGGTGCTCCCCTGTG	0.642													A	520905	G	A	520905	3	1	19	1	0	0	0	0	1	0	0	0	11888	1319	46	2	2185	2	PIGG	4	520905	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08		520905	190633371	746	15045											
PDE6B	5158	broad.mit.edu	37	chr4	656356	656356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgccatggtgacagccgGcctgtgccatgacatcgacc	11	15	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:656356G>A	uc003gap.2	+	14	1834	c.1781G>A	c.(1780-1782)GGC>GAC	p.G594D	PDE6B_uc003gao.3_Missense_Mutation_p.G594D|PDE6B_uc011buy.1_Missense_Mutation_p.G315D|PDE6B_uc011buz.1_Missense_Mutation_p.G26D	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	594					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						GTGACAGCCGGCCTGTGCCAT	0.592													A	656356	G	A	656356	3	1	19	1	0	0	0	0	1	0	0	0	11646	1203	42	2	1835	2	PDE6B	4	656356	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	135451	656356	190497920	747	15046											
PDE6B	5158	broad.mit.edu	37	chr4	657603	657603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccggcggcagcacgagcaCgtgatccacctgatggacat	12	13	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:657603C>T	uc003gap.2	+	16	2018	c.1965C>T	c.(1963-1965)CAC>CAT	p.H655H	PDE6B_uc003gao.3_Silent_p.H655H|PDE6B_uc011buy.1_Silent_p.H376H|PDE6B_uc011buz.1_Silent_p.H87H	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	655					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						AGCACGAGCACGTGATCCACC	0.682													T	657603	C	T	657603	2	4	19	1	0	0	0	0	0	0	0	1	11646	535	19	1		1	PDE6B	4	657603	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1247	657603	190496673	748	15047											
MFSD7	84179	broad.mit.edu	37	chr4	678549	678549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctctgaggtggagctggCagccccggcagagggcgggg	19	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:678549C>T	uc003gay.2	-	5	739	c.682G>A	c.(682-684)GCC>ACC	p.A228T	MFSD7_uc003gaw.2_5'UTR|MFSD7_uc003gax.2_Missense_Mutation_p.A228T|MFSD7_uc003gaz.2_Missense_Mutation_p.A109T|MFSD7_uc003gba.2_Missense_Mutation_p.A131T|MFSD7_uc003gbb.1_Missense_Mutation_p.A164T	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing	228					transmembrane transport	integral to membrane					0						GTGGAGCTGGCAGCCCCGGCA	0.662													T	678549	C	T	678549	3	4	19	1	0	0	0	0	1	0	0	0	9537	710	25	2	1021	2	MFSD7	4	678549	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	20946	678549	190475727	749	15048											
IDUA	3425	broad.mit.edu	37	chr4	996134	996134	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcctgagcaacgacaaTgccttcctgagctaccaccc	8	17	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:996134T>C	uc003gby.2	+	8	1138	c.1050T>C	c.(1048-1050)AAT>AAC	p.N350N	IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Silent_p.N372N	NM_000203	NP_000194	P35475	IDUA_HUMAN	alpha-L-iduronidase precursor	350			N -> I (in MPS1S).|Missing (in MPS1H).		disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	GCAACGACAATGCCTTCCTGA	0.667													C	996134	T	C	996134	2	2	19	1	0	0	0	0	0	0	0	1	7504	1461	51	3		3	IDUA	4	996134	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	317585	996134	190158142	750	15049											
CTBP1	1487	broad.mit.edu	37	chr4	1222118	1222118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtacatcagggcccccacaGcctcgttcaggacctgcagc	11	16	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:1222118G>A	uc003gcv.1	-	3	374	c.209C>T	c.(208-210)GCT>GTT	p.A70V	CTBP1_uc003gct.1_Missense_Mutation_p.A51V|CTBP1_uc003gcu.1_Missense_Mutation_p.A59V	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	C-terminal binding protein 1 isoform 1	70	Interaction with GLIS2 1 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GGCCCCCACAGCCTCGTTCAG	0.622													A	1222118	G	A	1222118	3	1	19	1	0	0	0	0	1	0	0	0	3997	971	34	2	1141	2	CTBP1	4	1222118	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	225984	1222118	189932158	751	15050											
KIAA1530	57654	broad.mit.edu	37	chr4	1348909	1348909	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacccccgtttcgcagcgctTcacccgcgtcgggacccacg	10	20	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:1348909T>A	uc003gde.3	+	7	1499	c.1052T>A	c.(1051-1053)TTC>TAC	p.F351Y		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	351											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			TCGCAGCGCTTCACCCGCGTC	0.627													A	1348909	T	A	1348909	3	1	19	1	0	0	0	0	1	0	0	0	8241	1783	62	5	1074	5	KIAA1530	4	1348909	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	126791	1348909	189805367	752	15051											
FAM193A	8603	broad.mit.edu	37	chr4	2695394	2695394	+	Frame_Shift_Del	DEL	C	C	-													gaatagccccacgggcttggCccccctcccagcgctctcgc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:2695393_2695393GC>G	uc010ick.3	+	14	2612	c.2611_2611GC>G	c.(2611-2613)gccfs	p.A871fs	FAM193A_uc003gfd.3_Frame_Shift_Del_p.A671fs|FAM193A_uc011bvm.2_Frame_Shift_Del_p.A693fs|FAM193A_uc011bvn.2_Frame_Shift_Del_p.A671fs|FAM193A_uc010icl.3_Frame_Shift_Del_p.A671fs|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Frame_Shift_Del_p.A525fs	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	671								p.R871Q(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CACGGGCTTGGCCCCCCTCCC	0.627													-	2695394	C	-	2695394	7	5	19	1	0	1	0	1	0	0	0	0	5524	739	26	0	2058	0	FAM193A	4	2695394	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	1346485	2695394	188458882	753	15052											
SH3BP2	6452	broad.mit.edu	37	chr4	2831652	2831652	+	Frame_Shift_Del	DEL	C	C	-													actcaagtccttccacctgtCcccccgaggaccacccacat							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:2831652delC	uc003gfi.3	+	8	1139	c.1019delC	c.(1018-1020)TCCfs	p.S340fs	SH3BP2_uc011bvp.1_Frame_Shift_Del_p.S368fs|SH3BP2_uc003gfj.3_Frame_Shift_Del_p.S397fs|SH3BP2_uc003gfk.3_Frame_Shift_Del_p.S340fs|SH3BP2_uc003gfl.3_Frame_Shift_Del_p.S273fs|SH3BP2_uc003gfm.3_Frame_Shift_Del_p.S315fs	NM_001122681	NP_001116153	P78314	3BP2_HUMAN	SH3-domain binding protein 2 isoform a	340					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TTCCACCTGTCCCCCCGAGGA	0.622									Cherubism				-	2831652	C	-	2831652	7	5	19	1	0	1	0	1	0	0	0	0	14245	855	30	0	1304	0	SH3BP2	4	2831652	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	136258	2831652	188322624	754	15053											
HTT	3064	broad.mit.edu	37	chr4	3234904	3234904	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctaggacaaggccgtggcGgagcctgtcagccgcctgct	15	14	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:3234904G>A	uc011bvq.1	+	62	8431	c.8286G>A	c.(8284-8286)GCG>GCA	p.A2762A		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2760					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGGCCGTGGCGGAGCCTGTCA	0.677													A	3234904	G	A	3234904	2	1	19	1	0	0	0	0	0	0	0	1	7457	1103	39	1		1	HTT	4	3234904	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	403252	3234904	187919372	755	15054											
RGS12	6002	broad.mit.edu	37	chr4	3318646	3318646	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagctccaacctggagtccgAcagcttgcaagccatccgcg	11	15	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:3318646A>C	uc003ggw.2	+	2	1653	c.749A>C	c.(748-750)GAC>GCC	p.D250A	RGS12_uc003ggu.2_Missense_Mutation_p.D250A|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.D250A|RGS12_uc003ggx.1_Missense_Mutation_p.D250A	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	250	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTGGAGTCCGACAGCTTGCAA	0.552													C	3318646	A	C	3318646	3	2	19	1	0	0	0	0	1	0	0	0	13295	275	10	5	751	5	RGS12	4	3318646	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	83742	3318646	187835630	756	15055											
RGS12	6002	broad.mit.edu	37	chr4	3424186	3424186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccggatgggacatcctgCgtggtggctgtcaaggcggg	17	11	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:3424186C>T	uc003ggw.2	+	11	3826	c.2922C>T	c.(2920-2922)TGC>TGT	p.C974C	RGS12_uc003ggv.2_Silent_p.C974C|RGS12_uc003ggy.1_Silent_p.C372C|RGS12_uc003ggz.2_Silent_p.C326C|RGS12_uc010icu.1_Silent_p.C173C|RGS12_uc011bvs.1_Silent_p.C316C|RGS12_uc003gha.2_Silent_p.C316C|RGS12_uc010icv.2_Silent_p.C173C|RGS12_uc003ghb.2_Silent_p.C173C	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	974	RBD 1.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGACATCCTGCGTGGTGGCTG	0.632													T	3424186	C	T	3424186	2	4	19	1	0	0	0	0	0	0	0	1	13295	776	27	1		1	RGS12	4	3424186	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	105540	3424186	187730090	757	15056											
RGS12	6002	broad.mit.edu	37	chr4	3430399	3430399	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctattgcaaagattgggAaaaaaaaatatcagaaaatt	6	3	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:3430399A>G	uc003ggw.2	+	16	4430	c.3526A>G	c.(3526-3528)AAA>GAA	p.K1176E	RGS12_uc003ggv.2_Missense_Mutation_p.K1176E|RGS12_uc003ggy.1_Intron|RGS12_uc003ggz.2_Missense_Mutation_p.K528E|RGS12_uc011bvs.1_Intron|RGS12_uc003gha.2_Missense_Mutation_p.K518E|RGS12_uc010icv.2_Missense_Mutation_p.K375E	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1176						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAGATTGGGAAAAAAAAATA	0.328													G	3430399	A	G	3430399	3	3	19	1	0	0	0	0	1	0	0	0	13295	247	9	3	3642	3	RGS12	4	3430399	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	6213	3430399	187723877	758	15057											
ADRA2C	152	broad.mit.edu	37	chr4	3768793	3768793	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaccgctactggtcggtgAcgcaggccgtcgagtacaac	14	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:3768793A>G	uc003ghm.2	+	1	498	c.460A>G	c.(460-462)ACG>GCG	p.T154A	ADRA2C_uc010icx.2_Missense_Mutation_p.T154A	NM_000683	NP_000674	P18825	ADA2C_HUMAN	alpha-2C-adrenergic receptor	154	Cytoplasmic (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CTGGTCGGTGACGCAGGCCGT	0.642													G	3768793	A	G	3768793	3	3	19	1	0	0	0	0	1	0	0	0	339	275	10	3	462	3	ADRA2C	4	3768793	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	338394	3768793	187385483	759	15058											
ADRA2C	152	broad.mit.edu	37	chr4	3769594	3769594	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcccggcccgctcttcaagTtcttcttctggatcggctac	9	15	5	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:3769594T>C	uc003ghm.2	+	1	1299	c.1261T>C	c.(1261-1263)TTC>CTC	p.F421L	ADRA2C_uc010icx.2_Intron	NM_000683	NP_000674	P18825	ADA2C_HUMAN	alpha-2C-adrenergic receptor	421	Helical; Name=7; (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GCTCTTCAAGTTCTTCTTCTG	0.582													C	3769594	T	C	3769594	3	2	19	1	0	0	0	0	1	0	0	0	339	1725	60	3	1263	3	ADRA2C	4	3769594	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	801	3769594	187384682	760	15059											
OTOP1	133060	broad.mit.edu	37	chr4	4199372	4199372	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagccaggagcccgaggcagTgcccaccaagaggtccgagt	14	13	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:4199372T>C	uc003ghp.1	-	5	1219	c.1189A>G	c.(1189-1191)ACT>GCT	p.T397A		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	397	Helical; (Potential).				biomineral tissue development	extracellular space|integral to membrane				ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCCGAGGCAGTGCCCACCAAG	0.592													C	4199372	T	C	4199372	3	2	19	1	0	0	0	0	1	0	0	0	11305	1696	59	3	657	3	OTOP1	4	4199372	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	429778	4199372	186954904	761	15060											
EVC	2121	broad.mit.edu	37	chr4	5721059	5721059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccccatcaaggaggaggAagagagaagtgcagatgtcg	15	8	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:5721059A>G	uc003gil.1	+	2	443	c.259A>G	c.(259-261)AAG>GAG	p.K87E	EVC_uc003gim.1_RNA	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	87					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				AAGGAGGAGGAAGAGAGAAGT	0.502													G	5721059	A	G	5721059	3	3	19	1	0	0	0	0	1	0	0	0	5285	247	9	3	265	3	EVC	4	5721059	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1521687	5721059	185433217	762	15061											
WFS1	7466	broad.mit.edu	37	chr4	6293722	6293722	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgcctggtcagcagcgAgtgtgagtgcagcccctgcc	16	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:6293722A>C	uc003giy.2	+	6	876	c.710A>C	c.(709-711)GAG>GCG	p.E237A	WFS1_uc003gix.2_Missense_Mutation_p.E237A|WFS1_uc003giz.2_Missense_Mutation_p.E55A	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	237					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)		GTCAGCAGCGAGTGTGAGTGC	0.672													C	6293722	A	C	6293722	3	2	19	1	0	0	0	0	1	0	0	0	17357	304	11	5	728	5	WFS1	4	6293722	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	572663	6293722	184860554	763	15062											
SLC2A9	56606	broad.mit.edu	37	chr4	9836622	9836622	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcaccagtcaagatgaaCgggatgccacctgcagtgtg	11	11	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:9836622C>T	uc003gmc.2	-	11	1363	c.1302G>A	c.(1300-1302)CCG>CCA	p.P434P	SLC2A9_uc003gmd.2_Silent_p.P405P	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	solute carrier family 2, member 9 protein	434	Helical; Name=10; (Potential).				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			ovary(3)	3						TCAAGATGAACGGGATGCCAC	0.542													T	9836622	C	T	9836622	2	4	19	1	0	0	0	0	0	0	0	1	14552	523	19	1		1	SLC2A9	4	9836622	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3542900	9836622	181317654	764	15063											
NKX3-2	579	broad.mit.edu	37	chr4	13545707	13545707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccggccccgctggcccccCgcgcgtccgcgcagcgccgc	15	23	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:13545707C>T	uc003gmx.2	-	1	408	c.332G>A	c.(331-333)CGG>CAG	p.R111Q		NM_001189	NP_001180	P78367	NKX32_HUMAN	NK3 homeobox 2	111					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						gctggccccccgcgcgtccgc	0.537													T	13545707	C	T	13545707	3	4	19	1	0	0	0	0	1	0	0	0	10456	652	23	1	677	1	NKX3-2	4	13545707	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3709085	13545707	177608569	765	15064											
BOD1L	259282	broad.mit.edu	37	chr4	13602222	13602222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccttccatattttcttcaGttctcagagcatctgagaga	6	10	4	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:13602222G>A	uc003gmz.1	-	10	6419	c.6302C>T	c.(6301-6303)ACT>ATT	p.T2101I	BOD1L_uc010idr.1_Missense_Mutation_p.T1438I	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2101							DNA binding			ovary(5)|breast(1)	6						ATTTTCTTCAGTTCTCAGAGC	0.473													A	13602222	G	A	13602222	3	1	19	1	0	0	0	0	1	0	0	0	1483	1029	36	4	2921	4	BOD1L	4	13602222	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	56515	13602222	177552054	766	15065											
TAPT1	202018	broad.mit.edu	37	chr4	16165119	16165119	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccttttgatgaataggttGtttggtgatggaggcagaca	13	4	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:16165119G>A	uc010ied.1	-	14	1597	c.1516C>T	c.(1516-1518)CAA>TAA	p.Q506*	TAPT1_uc011bxd.1_RNA|TAPT1_uc011bxe.1_Nonsense_Mutation_p.Q395*	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation	506						integral to membrane	growth hormone-releasing hormone receptor activity				0						TGAATAGGTTGTTTGGTGATG	0.353													A	16165119	G	A	16165119	4	1	19	1	0	0	0	0	0	1	0	0	15551	1386	48	4	191	4	TAPT1	4	16165119	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2562897	16165119	174989157	767	15066											
NCAPG	64151	broad.mit.edu	37	chr4	17844999	17845000	+	Frame_Shift_Ins	INS	-	-	A													gccaaaaccgcagcactagaINSaaaaagtaaacttaaccttg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:17844998_17844999G>GA	uc003gpp.3	+	20	3174_3175	c.2998_2999G>GA	c.(2998-3000)gaafs	p.E1000fs	NCAPG_uc011bxj.2_Frame_Shift_Ins_p.E509fs|LCORL_uc021xmq.1_3'UTR|LCORL_uc003gpq.3_3'UTR|LCORL_uc011bxk.2_3'UTR	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	Homo sapiens non-SMC condensin I complex, subunit G (NCAPG), mRNA.	1000					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		CGCAGCACTAGAAAAAAGTAAA	0.366													A	17845000	-	A	17844999	7	5	19	1	0	1	1	0	0	0	0	0	10207	246	9	0	3081	0	NCAPG	4	17844999	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	1679880	17844999	173309277	768	15067											
SLIT2	9353	broad.mit.edu	37	chr4	20469438	20469438	+	Frame_Shift_Del	DEL	A	A	-													ttccgtggggcagttgacatAaaaaatttgtaagtatctat							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:20469438delA	uc003gpr.1	+	5	663	c.459delA	c.(457-459)ATAfs	p.I153fs	SLIT2_uc003gps.1_Frame_Shift_Del_p.I153fs	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	153	LRR 5.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						CAGTTGACATAAAAAATTTGT	0.294													-	20469438	A	-	20469438	7	5	19	1	0	1	0	1	0	0	0	0	14740	352	13	0	477	0	SLIT2	4	20469438	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	2624439	20469438	170684838	769	15068											
GPR125	166647	broad.mit.edu	37	chr4	22415356	22415356	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgaagcttgtaaagagagtCatcagttggtctgagttctc	11	6	4	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:22415356C>T	uc003gqm.1	-	13	2156	c.1891G>A	c.(1891-1893)GAC>AAC	p.D631N	GPR125_uc010ieo.1_Missense_Mutation_p.D487N	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	631	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				TAAAGAGAGTCATCAGTTGGT	0.388													T	22415356	C	T	22415356	3	4	19	1	0	0	0	0	1	0	0	0	6639	826	29	4	2102	4	GPR125	4	22415356	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1945918	22415356	168738920	770	15069											
GPR125	166647	broad.mit.edu	37	chr4	22422524	22422524	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catacctttagtgccagactCgaaaatgtatttgaaacatt	6	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:22422524C>T	uc003gqm.1	-	12	2059	c.1794G>A	c.(1792-1794)TCG>TCA	p.S598S	GPR125_uc010ieo.1_Silent_p.S472S|GPR125_uc003gqn.1_Silent_p.S372S|GPR125_uc003gqo.2_Silent_p.S598S	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	598	Extracellular (Potential).|LRR 5.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				GTGCCAGACTCGAAAATGTAT	0.393													T	22422524	C	T	22422524	2	4	19	1	0	0	0	0	0	0	0	1	6639	871	31	1		1	GPR125	4	22422524	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	7168	22422524	168731752	771	15070											
PPARGC1A	10891	broad.mit.edu	37	chr4	23815459	23815459	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatttgggtggtgacacagaAtctctacatggagagttaaa	12	5	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:23815459A>G	uc003gqs.2	-	8	1767	c.1647T>C	c.(1645-1647)GAT>GAC	p.D549D	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	549					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				GTGACACAGAATCTCTACATG	0.443													G	23815459	A	G	23815459	2	3	19	1	0	0	0	0	0	0	0	1	12300	98	4	3		3	PPARGC1A	4	23815459	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1392935	23815459	167338817	772	15071											
RBPJ	3516	broad.mit.edu	37	chr4	26426078	26426078	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgccagttcacagcagtGgggagccttttttattcatc	9	10	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:26426078G>A	uc003grx.1	+	7	886	c.650G>A	c.(649-651)TGG>TAG	p.W217*	RBPJ_uc003gry.1_Nonsense_Mutation_p.W202*|RBPJ_uc003grz.1_Nonsense_Mutation_p.W217*|RBPJ_uc011bxt.1_Nonsense_Mutation_p.W217*|RBPJ_uc003gsa.1_Nonsense_Mutation_p.W203*|RBPJ_uc003gsb.1_Nonsense_Mutation_p.W204*|RBPJ_uc003gsc.1_Nonsense_Mutation_p.W203*	NM_005349	NP_005340	Q06330	SUH_HUMAN	recombining binding protein suppressor of	217					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)	3		Breast(46;0.0503)				TCACAGCAGTGGGGAGCCTTT	0.363													A	26426078	G	A	26426078	4	1	19	1	0	0	0	0	0	1	0	0	13161	1357	47	4	735	4	RBPJ	4	26426078	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2610619	26426078	164728198	773	15072											
PCDH7	5099	broad.mit.edu	37	chr4	30723194	30723194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgacgtccgcatcggcaaCgtggcttcagacctgggcat	13	14	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:30723194C>T	uc003gsk.1	+	1	1158	c.150C>T	c.(148-150)AAC>AAT	p.N50N	PCDH7_uc011bxw.1_Silent_p.N50N|PCDH7_uc011bxx.1_Silent_p.N50N	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	50	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						GCATCGGCAACGTGGCTTCAG	0.677													T	30723194	C	T	30723194	2	4	19	1	0	0	0	0	0	0	0	1	11516	535	19	1		1	PCDH7	4	30723194	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	4297116	30723194	160431082	774	15073											
TBC1D1	23216	broad.mit.edu	37	chr4	38016291	38016291	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggctccgccggccctgatCgacgagtgcatcgagaagtt	13	12	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:38016291C>T	uc003gtb.2	+	3	922	c.579C>T	c.(577-579)ATC>ATT	p.I193I	TBC1D1_uc011byd.1_Silent_p.I193I|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Silent_p.I64I	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	193						nucleus	Rab GTPase activator activity			ovary(1)	1						CGGCCCTGATCGACGAGTGCA	0.672													T	38016291	C	T	38016291	2	4	19	1	0	0	0	0	0	0	0	1	15594	874	31	1		1	TBC1D1	4	38016291	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	7293097	38016291	153137985	775	15074											
TBC1D1	23216	broad.mit.edu	37	chr4	38051444	38051444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacctccacaacctgcccGggggtccccgggggtttcgc	14	16	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:38051444G>A	uc003gtb.2	+	11	2178	c.1835G>A	c.(1834-1836)CGG>CAG	p.R612Q	TBC1D1_uc011byd.1_Missense_Mutation_p.R612Q|TBC1D1_uc010ifd.2_Missense_Mutation_p.R359Q|TBC1D1_uc011byf.1_Missense_Mutation_p.R483Q	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	612						nucleus	Rab GTPase activator activity			ovary(1)	1						CAACCTGCCCGGGGGTCCCCG	0.547													A	38051444	G	A	38051444	3	1	19	1	0	0	0	0	1	0	0	0	15594	1116	39	1	1873	1	TBC1D1	4	38051444	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	35153	38051444	153102832	776	15075											
TBC1D1	23216	broad.mit.edu	37	chr4	38119751	38119751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccccagcctctacgctgCcccctggttcctcaccatgt	8	20	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:38119751C>T	uc003gtb.2	+	17	3243	c.2900C>T	c.(2899-2901)GCC>GTC	p.A967V	TBC1D1_uc011byd.1_Intron|TBC1D1_uc010ifd.2_Missense_Mutation_p.A754V|TBC1D1_uc003gtd.2_5'Flank	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	967	Rab-GAP TBC.					nucleus	Rab GTPase activator activity			ovary(1)	1						CTCTACGCTGCCCCCTGGTTC	0.537													T	38119751	C	T	38119751	3	4	19	1	0	0	0	0	1	0	0	0	15594	739	26	2	2962	2	TBC1D1	4	38119751	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	68307	38119751	153034525	777	15076											
KLF3	51274	broad.mit.edu	37	chr4	38690460	38690460	+	Frame_Shift_Del	DEL	A	A	-													ccttcttccagcccaccgatAaaaaaatactcacccccttc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:38690459_38690459TA>T	uc003gth.4	+	2	643	c.311_311TA>T	c.(310-312)atafs	p.I104fs	KLF3_uc003gtg.2_Frame_Shift_Del_p.I104fs	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	104	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AGCCCACCGATAAAAAAATAC	0.617													-	38690460	A	-	38690460	7	5	19	1	0	1	0	1	0	0	0	0	8347	352	13	0	318	0	KLF3	4	38690460	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	570709	38690460	152463816	778	15077											
RPL9	6133	broad.mit.edu	37	chr4	39458157	39458157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcatcttgtaacggaagCcctatgttaaataaataagc	6	9	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:39458157C>T	uc003gub.2	-	4	408	c.260G>A	c.(259-261)GGC>GAC	p.G87D	RPL9_uc003guc.2_Missense_Mutation_p.G87D|RPL9_uc011byk.1_RNA|RPL9_uc011byl.1_Missense_Mutation_p.G87D|LIAS_uc003gue.3_5'Flank|LIAS_uc011bym.1_5'Flank|LIAS_uc003guf.2_5'Flank|LIAS_uc003gug.2_5'Flank|LIAS_uc003guh.2_5'Flank	NM_001024921	NP_001020092	P32969	RL9_HUMAN	ribosomal protein L9	87					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|nucleolus|ribosome	rRNA binding|structural constituent of ribosome			skin(1)	1						GTAACGGAAGCCCTATGTTAA	0.338													T	39458157	C	T	39458157	3	4	19	1	0	0	0	0	1	0	0	0	13603	753	26	2	330	2	RPL9	4	39458157	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	767697	39458157	151696119	779	15078											
LIAS	11019	broad.mit.edu	37	chr4	39472857	39472857	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcttttcttcctacagcActtcgtgaggcagatgtaga	10	9	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:39472857A>G	uc003guf.2	+	9	958	c.885A>G	c.(883-885)GCA>GCG	p.A295A	LIAS_uc003gug.2_Silent_p.A295A|LIAS_uc003guh.2_Silent_p.A252A	NM_006859	NP_006850	O43766	LIAS_HUMAN	lipoic acid synthetase isoform 1 precursor	295					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding				0					Lipoic Acid(DB00166)	TTCCTACAGCACTTCGTGAGG	0.338													G	39472857	A	G	39472857	2	3	19	1	0	0	0	0	0	0	0	1	8778	173	6	3		3	LIAS	4	39472857	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	14700	39472857	151681419	780	15079											
UGDH	7358	broad.mit.edu	37	chr4	39512403	39512403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttgagttttgcacaatgcGtctagcacaagcttcaatat	7	8	2	1	rs140504706	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:39512403G>A	uc003guk.1	-	4	659	c.343C>T	c.(343-345)CGC>TGC	p.R115C	UGDH_uc011byp.1_Missense_Mutation_p.R18C|UGDH_uc003gul.1_Intron	NM_003359	NP_003350	O60701	UGDH_HUMAN	UDP-glucose dehydrogenase	115					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4					NADH(DB00157)	TGCACAATGCGTCTAGCACAA	0.433													A	39512403	G	A	39512403	3	1	19	1	0	0	0	0	1	0	0	0	16937	1145	40	1	1177	1	UGDH	4	39512403	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	39546	39512403	151641873	781	15080											
N4BP2	55728	broad.mit.edu	37	chr4	40104430	40104430	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtgtttctaccttccgAagggttcaacttcaagccac	8	11	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:40104430A>G	uc003guy.3	+	4	1303	c.965A>G	c.(964-966)GAA>GGA	p.E322G	N4BP2_uc010ifq.2_Missense_Mutation_p.E242G|N4BP2_uc010ifr.2_Missense_Mutation_p.E242G	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	322						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						CTACCTTCCGAAGGGTTCAAC	0.493													G	40104430	A	G	40104430	3	3	19	1	0	0	0	0	1	0	0	0	10110	246	9	3	971	3	N4BP2	4	40104430	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	592027	40104430	151049846	782	15081											
CHRNA9	55584	broad.mit.edu	37	chr4	40356064	40356064	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaccatcatggtgatgaatAtccacttctgtggggccgag	12	9	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:40356064A>G	uc003gva.1	+	5	983	c.967A>G	c.(967-969)ATC>GTC	p.I323V		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9	323	Helical; (Potential).				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(3)|skin(3)|central_nervous_system(1)	7					Nicotine(DB00184)	GGTGATGAATATCCACTTCTG	0.502													G	40356064	A	G	40356064	3	3	19	1	0	0	0	0	1	0	0	0	3389	449	16	3	985	3	CHRNA9	4	40356064	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	251634	40356064	150798212	783	15082											
GNPDA2	132789	broad.mit.edu	37	chr4	44719257	44719257	+	Frame_Shift_Del	DEL	A	A	-													ggatctatatcgatatgcttAaaaaaattattccacatata					rs6818617		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:44719256_44719256TA>T	uc003gwy.3	-	3	440	c.283_283TA>A	c.(283-285)aagfs	p.K95fs	GNPDA2_uc010iga.3_Frame_Shift_Del_p.K61fs|GNPDA2_uc011bzb.2_Frame_Shift_Del_p.K25fs|GNPDA2_uc003gwz.1_Frame_Shift_Del_p.K95fs	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN	Homo sapiens glucosamine-6-phosphate deaminase 2 (GNPDA2), mRNA.	95					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						TCGATATGCTTAAAAAAATTA	0.299													-	44719257	A	-	44719257	7	5	19	1	0	1	0	1	0	0	0	0	6543	359	13	0	564	0	GNPDA2	4	44719257	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	4363193	44719257	146435019	784	15083											
GABRG1	2565	broad.mit.edu	37	chr4	46053588	46053588	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatccatcgcagtcacataAgaaaccttaggtaaagactt	7	9	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:46053588A>C	uc003gxb.2	-	8	1136	c.984T>G	c.(982-984)TCT>TCG	p.S328S		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	328					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CAGTCACATAAGAAACCTTAG	0.373													C	46053588	A	C	46053588	2	2	19	1	0	0	0	0	0	0	0	1	6171	59	3	5		5	GABRG1	4	46053588	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1334331	46053588	145100688	785	15084											
ATP10D	57205	broad.mit.edu	37	chr4	47556800	47556800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatttagtcagattacacctCggctctttatgccactagat	6	10	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:47556800C>T	uc003gxk.1	+	11	1857	c.1693C>T	c.(1693-1695)CGG>TGG	p.R565W	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	565	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						GATTACACCTCGGCTCTTTAT	0.383													T	47556800	C	T	47556800	3	4	19	1	0	0	0	0	1	0	0	0	1118	875	31	1	1731	1	ATP10D	4	47556800	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1503212	47556800	143597476	786	15085											
TXK	7294	broad.mit.edu	37	chr4	48115286	48115286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtgtatttttctggaaGctcttcatctgtgctcaggc	11	9	5	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:48115286G>A	uc003gxx.3	-	3	198	c.112C>T	c.(112-114)CTT>TTT	p.L38F	TXK_uc003gxy.1_Missense_Mutation_p.L38F	NM_003328	NP_003319	P42681	TXK_HUMAN	TXK tyrosine kinase	38						cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity				0						TTTTCTGGAAGCTCTTCATCT	0.393													A	48115286	G	A	48115286	3	1	19	1	0	0	0	0	1	0	0	0	16783	971	34	2	1523	2	TXK	4	48115286	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	558486	48115286	143038990	787	15086											
TEC	7006	broad.mit.edu	37	chr4	48148398	48148398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcacactaactgggtacCgaagcctggtgacaagtcct	9	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:48148398C>T	uc003gxz.2	-	12	1116	c.1025G>A	c.(1024-1026)CGG>CAG	p.R342Q		NM_003215	NP_003206	P42680	TEC_HUMAN	tec protein tyrosine kinase	342	SH2.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						AACTGGGTACCGAAGCCTGGT	0.413													T	48148398	C	T	48148398	3	4	19	1	0	0	0	0	1	0	0	0	15739	652	23	1	898	1	TEC	4	48148398	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	33112	48148398	143005878	788	15087											
FRYL	285527	broad.mit.edu	37	chr4	48501614	48501614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttcctgtctggcccagcGtctgatgatggaaatatata	10	9	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:48501614G>A	uc003gyh.1	-	64	9472	c.8867C>T	c.(8866-8868)ACG>ATG	p.T2956M	FRYL_uc003gye.1_Missense_Mutation_p.T138M|FRYL_uc003gyf.1_Missense_Mutation_p.T346M|FRYL_uc003gyg.1_Missense_Mutation_p.T1646M	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	2956					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						CTGGCCCAGCGTCTGATGATG	0.423													A	48501614	G	A	48501614	3	1	19	1	0	0	0	0	1	0	0	0	6064	1145	40	1	178	1	FRYL	4	48501614	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	353216	48501614	142652662	789	15088											
LNX1	84708	broad.mit.edu	37	chr4	54327149	54327149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttcagcagtcttgccaaGcaagcatgtatcattcctga	7	11	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:54327149G>A	uc003hag.3	-	11	2368	c.2112C>T	c.(2110-2112)TGC>TGT	p.C704C	PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Silent_p.C608C|LNX1_uc003hah.3_RNA	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1 isoform a	704	PDZ 4.					cytoplasm	zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GTCTTGCCAAGCAAGCATGTA	0.333													A	54327149	G	A	54327149	2	1	19	1	0	0	0	0	0	0	0	1	8865	963	34	2		2	LNX1	4	54327149	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	5825535	54327149	136827127	790	15089											
KIT	3815	broad.mit.edu	37	chr4	55592140	55592140	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattcaagcacaatggcacGgttgaatgtaaggcttacaa	10	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:55592140G>A	uc010igr.2	+	9	1551	c.1464G>A	c.(1462-1464)ACG>ACA	p.T488T	KIT_uc010igs.2_Silent_p.T488T|KIT_uc011bzw.1_5'Flank|KIT_uc010igt.1_5'Flank	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	488	Extracellular (Potential).|Ig-like C2-type 5.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACAATGGCACGGTTGAATGTA	0.398		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				A	55592140	G	A	55592140	2	1	19	1	0	0	0	0	0	0	0	1	8329	1103	39	1		1	KIT	4	55592140	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1264991	55592140	135562136	791	15090											
KIT	3815	broad.mit.edu	37	chr4	55593613	55593613	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtacagtggaaggttgTtgaggagataaatggaaaca	14	2	0	3	rs67104871		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:55593613T>C	uc010igr.2	+	11	1766	c.1679T>C	c.(1678-1680)GTT>GCT	p.V560A	KIT_uc010igs.2_Missense_Mutation_p.V556A|KIT_uc010igt.1_Missense_Mutation_p.V9A	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	560	Cytoplasmic (Potential).		Missing (in GIST; somatic mutation).		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.V560D(113)|p.V560del(44)|p.W557_E561del(36)|p.V560G(23)|p.V560_L576del(22)|p.V560E(18)|p.K558_E562del(16)|p.V559_E561del(15)|p.K558_V560del(13)|p.K558_V560>N(12)|p.W557_V560>C(11)|p.V559_G565del(11)|p.K558_G565>R(11)|p.Q556_V560del(10)|p.V559_V560del(9)|p.K558_D572del(9)|p.V559_T574del(6)|p.W557_Q575del(6)|p.Q556_V560>H(6)|p.K558_I563del(5)|p.Q556_D572del(5)|p.K558_V560>I(5)|p.W557_V560>F(4)|p.V555_P573del(4)|p.V555_I571del(4)|p.W557_V560del(4)|p.M552_D572del(4)|p.V555_V560del(4)|p.V560_I571del(3)|p.Q556_D572>H(3)|p.Y553_T574>S(3)|p.V560_E561del(3)|p.E554_D572>A(3)|p.Q556_L576del(3)|p.W557_E562del(3)|p.V555_D572del(3)|p.Q556_T574del(3)|p.K558_E561del(3)|p.Y553_E561>LK(2)|p.M552_E561>K(2)|p.V559_D572del(2)|p.W557_P573>S(2)|p.W557_T574del(2)|p.P551_V569del(2)|p.V560_Y578del(2)|p.V560A(2)|p.Y553_E561del(2)|p.Q556_N564>R(2)|p.V555_E562del(2)|p.V555_Q575del(2)|p.W557_D572del(2)|p.W557_N564del(2)|p.V559_E562del(2)|p.K558_N564del(2)|p.W557_I571del(2)|p.K558_Y570>N(2)|p.V559_N566>D(2)|p.Q556_N564>H(2)|p.K558_Q575del(1)|p.V555_Y570del(1)|p.M552_T574>TESA(1)|p.Q556_D572>PS(1)|p.Q556_I563del(1)|p.W557_I563>FP(1)|p.M552_V560del(1)|p.K558_N564>R(1)|p.K558_E561>NP(1)|p.V559_P573>A(1)|p.K558_D572>N(1)|p.E554_N564>D(1)|p.V559_L576del(1)|p.P551_E561>Q(1)|p.Y553_P573del(1)|p.K550_V560>L(1)|p.V555_V560>H(1)|p.W557_T575>CP(1)|p.E554_Y570del(1)|p.E554_E561del(1)|p.Q556_N566>SNNLQLY(1)|p.E554_I571del(1)|p.V560_Y568del(1)|p.V555_V560>T(1)|p.V555_V560>V(1)|p.W557_E561>PS(1)|p.Q556_L576>H(1)|p.K558_G565>A(1)|p.Q556_P573del(1)|p.K558_L576>NV(1)|p.E554_E562del(1)|p.Q556_V560>TTF(1)|p.K558_V560>R(1)|p.W557_I563>T(1)|p.K558_T574>NRS(1)|p.V559_I571del(1)|p.E554_D572del(1)|p.W557_Y570del(1)|p.V560V(1)|p.P551_V569>L(1)|p.K558_P573del(1)|p.Q556_N564del(1)|p.E554_V560>K(1)|p.E554_V560>D(1)|p.V559_S590del(1)|p.V555_N566>D(1)|p.V559_N564del(1)|p.Q556_V560>HNLQLY(1)|p.K558_L576del(1)|p.Y553_L576>NCLHLYSSQ(1)|p.K558_V560>M(1)|p.M552_Y570del(1)|p.K558_P573>R(1)|p.V555_G565del(1)|p.V555_I563del(1)|p.V560_N566del(1)|p.K558_G565del(1)|p.Q556_V560>F(1)|p.M552_I563del(1)|p.Q556_E561del(1)|p.V560_D572del(1)|p.V555_N564del(1)|p.Q556_E561>HH(1)|p.K550_Y568del(1)|p.E554_N564del(1)|p.V559_V569del(1)|p.Q556_E561>P(1)		soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGAAGGTTGTTGAGGAGATA	0.388		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				C	55593613	T	C	55593613	3	2	19	1	0	0	0	0	1	0	0	0	8329	1725	60	3	1721	3	KIT	4	55593613	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1473	55593613	135560663	792	15091											
KDR	3791	broad.mit.edu	37	chr4	55968120	55968120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaacactgcatgcctggCaggtgtagaggccttcgtcc	12	12	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:55968120C>T	uc003has.2	-	15	2512	c.2210G>A	c.(2209-2211)TGC>TAC	p.C737Y	KDR_uc003hat.1_Missense_Mutation_p.C737Y	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	737	Ig-like C2-type 7.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GCATGCCTGGCAGGTGTAGAG	0.393			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			T	55968120	C	T	55968120	3	4	19	1	0	0	0	0	1	0	0	0	8139	710	25	2	1924	2	KDR	4	55968120	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	374507	55968120	135186156	793	15092											
AASDH	132949	broad.mit.edu	37	chr4	57244456	57244456	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctgctttttcttcatTgacatgctcagaacttatgc	5	10	5	2	rs79451123		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:57244456T>C	uc003hbn.2	-	4	679	c.526A>G	c.(526-528)AAT>GAT	p.N176D	AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.N23D|AASDH_uc003hbo.2_Missense_Mutation_p.N76D|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Missense_Mutation_p.N176D|AASDH_uc003hbp.2_Missense_Mutation_p.N176D	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	176					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTTTCTTCATTGACATGCTCA	0.368													C	57244456	T	C	57244456	3	2	19	1	0	0	0	0	1	0	0	0	22	1812	63	3	2818	3	AASDH	4	57244456	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1276336	57244456	133909820	794	15093											
SRP72	6731	broad.mit.edu	37	chr4	57340473	57340473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcctccaagaaggcacaCatgagctgtgctacaacact	10	12	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:57340473C>T	uc003hbv.2	+	5	566	c.526C>T	c.(526-528)CAT>TAT	p.H176Y	SRP72_uc010ihe.2_Missense_Mutation_p.H176Y|SRP72_uc003hbw.1_5'UTR	NM_006947	NP_008878	O76094	SRP72_HUMAN	signal recognition particle 72kDa	176					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)					AGAAGGCACACATGAGCTGTG	0.438													T	57340473	C	T	57340473	3	4	19	1	0	0	0	0	1	0	0	0	15156	478	17	4	544	4	SRP72	4	57340473	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	96017	57340473	133813803	795	15094											
TECRL	253017	broad.mit.edu	37	chr4	65175608	65175608	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaataaggtttccaaaAggtatcggatgtagtgtata	10	4	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:65175608A>C	uc003hcv.2	-	6	702	c.593T>G	c.(592-594)CTT>CGT	p.L198R	TECRL_uc003hcw.2_Missense_Mutation_p.L198R	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	198					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0						GGTTTCCAAAAGGTATCGGAT	0.343													C	65175608	A	C	65175608	3	2	19	1	0	0	0	0	1	0	0	0	15743	72	3	5	526	5	TECRL	4	65175608	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	7835135	65175608	125978668	796	15095											
EPHA5	2044	broad.mit.edu	37	chr4	66280009	66280009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaatgacttacacactggGgtggtttcaaactcaaatct	7	8	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:66280009G>A	uc003hcy.2	-	7	1873	c.1680C>T	c.(1678-1680)ACC>ACT	p.T560T	EPHA5_uc003hcx.2_Silent_p.T491T|EPHA5_uc003hcz.2_Silent_p.T560T|EPHA5_uc011cah.1_Silent_p.T560T|EPHA5_uc011cai.1_Silent_p.T560T|EPHA5_uc003hda.2_Silent_p.T560T	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	560	Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TACACACTGGGGTGGTTTCAA	0.453										TSP Lung(17;0.13)			A	66280009	G	A	66280009	2	1	19	1	0	0	0	0	0	0	0	1	5170	1219	43	4		4	EPHA5	4	66280009	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1104401	66280009	124874267	797	15096											
UBA6	55236	broad.mit.edu	37	chr4	68528931	68528931	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgtgaatctctaaaggTgcctattgagaacattaaaa	9	6	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:68528931T>C	uc003hdg.3	-	12	1015	c.963A>G	c.(961-963)GCA>GCG	p.A321A	UBA6_uc003hdi.2_Silent_p.A321A|UBA6_uc003hdj.2_3'UTR	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	321					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0						TCTCTAAAGGTGCCTATTGAG	0.234													C	68528931	T	C	68528931	2	2	19	1	0	0	0	0	0	0	0	1	16829	1683	59	3		3	UBA6	4	68528931	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2248922	68528931	122625345	798	15097											
SULT1B1	27284	broad.mit.edu	37	chr4	70615468	70615470	+	In_Frame_Del	DEL	GAA	GAA	-													gttttcccagaaagatttagGaagaagatcagtcggtagat							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:70615468_70615470delGAA	uc003hen.2	-	4	642_644	c.344_346delTTC	c.(343-348)CTTCCT>CCT	p.L115del		NM_014465	NP_055280	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member	115					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol					0						AAAGATTTAGGAAGAAGATCAGT	0.369													-	70615470	GAA	-	70615468	7	5	19	1	0	1	0	1	0	0	0	0	15373	1174	41	0	564	0	SULT1B1	4	70615468	In_Frame_Del	DEL	GAA	TCGA-BR-4361-01A-01D-1158-08	2086537	70615468	120538808	799	15098											
ANKRD17	26057	broad.mit.edu	37	chr4	73950975	73950975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaaactcaccatttgatgCtgatgaacacggagtcaaca	7	9	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:73950975C>T	uc003hgp.2	-	30	7267	c.7150G>A	c.(7150-7152)GCA>ACA	p.A2384T	ANKRD17_uc003hgo.2_Missense_Mutation_p.A2271T|ANKRD17_uc003hgq.2_Missense_Mutation_p.A2133T|ANKRD17_uc003hgr.2_Missense_Mutation_p.A2383T	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	2384					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCATTTGATGCTGATGAACAC	0.413													T	73950975	C	T	73950975	3	4	19	1	0	0	0	0	1	0	0	0	646	797	28	2	681	2	ANKRD17	4	73950975	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3335507	73950975	117203301	800	15099											
ANKRD17	26057	broad.mit.edu	37	chr4	73964088	73964088	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgttttctggagtaatttTatttttcctgtttttcctct	5	7	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:73964088T>C	uc003hgp.2	-	26	4840	c.4723A>G	c.(4723-4725)AAA>GAA	p.K1575E	ANKRD17_uc003hgo.2_Missense_Mutation_p.K1462E|ANKRD17_uc003hgq.2_Missense_Mutation_p.K1324E|ANKRD17_uc003hgr.2_Missense_Mutation_p.K1574E	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1575					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGAGTAATTTTATTTTTCCTG	0.373													C	73964088	T	C	73964088	3	2	19	1	0	0	0	0	1	0	0	0	646	1763	61	3	3124	3	ANKRD17	4	73964088	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	13113	73964088	117190188	801	15100											
ANKRD17	26057	broad.mit.edu	37	chr4	74007512	74007512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcaggtggtttgtcaggctCctgaggtggaacaaccatgg	16	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:74007512C>T	uc003hgp.2	-	14	2395	c.2278G>A	c.(2278-2280)GAG>AAG	p.E760K	ANKRD17_uc003hgo.2_Missense_Mutation_p.E647K|ANKRD17_uc003hgq.2_Missense_Mutation_p.E760K|ANKRD17_uc003hgr.2_Missense_Mutation_p.E760K|ANKRD17_uc011cbd.1_Missense_Mutation_p.E325K	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	760					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGTCAGGCTCCTGAGGTGGA	0.453													T	74007512	C	T	74007512	3	4	19	1	0	0	0	0	1	0	0	0	646	864	30	4	5617	4	ANKRD17	4	74007512	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	43424	74007512	117146764	802	15101											
CXCL2	2920	broad.mit.edu	37	chr4	74964597	74964597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtgaattccctgcaggGtctgcaagcactggcagcgc	14	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:74964597G>A	uc003hhm.3	-	2	303	c.143C>T	c.(142-144)ACC>ATC	p.T48I		NM_002089	NP_002080	P19875	CXCL2_HUMAN	chemokine (C-X-C motif) ligand 2	48					chemotaxis|immune response|inflammatory response|response to molecule of bacterial origin	extracellular space|soluble fraction	chemokine activity				0	Breast(15;0.00612)		all cancers(17;0.00317)|Lung(101;0.196)			TCCCTGCAGGGTCTGCAAGCA	0.622													A	74964597	G	A	74964597	3	1	19	1	0	0	0	0	1	0	0	0	4085	1261	44	4	192	4	CXCL2	4	74964597	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	957085	74964597	116189679	803	15102											
PPEF2	5470	broad.mit.edu	37	chr4	76793305	76793305	+	Frame_Shift_Del	DEL	A	A	-													ttcatagtagttggaggcagAaaagattgttaatacctaca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:76793305delA	uc003hix.2	-	13	1879	c.1522delT	c.(1522-1524)TCTfs	p.S508fs	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Frame_Shift_Del_p.S508fs	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	508	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTGGAGGCAGAAAAGATTGTT	0.463													-	76793305	A	-	76793305	7	5	19	1	0	1	0	1	0	0	0	0	12308	246	9	0	759	0	PPEF2	4	76793305	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	1828708	76793305	114360971	804	15103											
SHROOM3	57619	broad.mit.edu	37	chr4	77661424	77661424	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgtgcagtcaacaccAaggcagaagaccctgggagg	12	13	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:77661424A>G	uc011cbx.1	+	5	3051	c.2098A>G	c.(2098-2100)AAG>GAG	p.K700E	SHROOM3_uc011cbz.1_Missense_Mutation_p.K524E|SHROOM3_uc003hkf.1_Missense_Mutation_p.K575E|SHROOM3_uc003hkg.2_Missense_Mutation_p.K478E	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	700					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			AGTCAACACCAAGGCAGAAGA	0.662													G	77661424	A	G	77661424	3	3	19	1	0	0	0	0	1	0	0	0	14295	131	5	3	2116	3	SHROOM3	4	77661424	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	868119	77661424	113492852	805	15104											
CCNG2	901	broad.mit.edu	37	chr4	78081909	78081909	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttgcattggagtctgTtcttttttgctggctgctag	11	7	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:78081909T>C	uc003hkq.3	+	4	615	c.312T>C	c.(310-312)TGT>TGC	p.C104C	CCNG2_uc003hkn.3_Silent_p.C104C|CCNG2_uc011ccc.1_Silent_p.C104C|CCNG2_uc003hkp.3_Silent_p.C104C	NM_004354	NP_004345	Q16589	CCNG2_HUMAN	cyclin G2	104					cell cycle checkpoint|cell division|mitosis	cytoplasm				ovary(2)|lung(1)	3						TTGGAGTCTGTTCTTTTTTGC	0.373													C	78081909	T	C	78081909	2	2	19	1	0	0	0	0	0	0	0	1	2924	1731	60	3		3	CCNG2	4	78081909	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	420485	78081909	113072367	806	15105											
FRAS1	80144	broad.mit.edu	37	chr4	79403543	79403543	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttggtttctcttctagtAttgcaccttgactatcttgg	8	9	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:79403543A>G	uc003hlb.2	+	58	9046	c.8606A>G	c.(8605-8607)TAT>TGT	p.Y2869C		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2864	Calx-beta 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						CTCTTCTAGTATTGCACCTTG	0.468													G	79403543	A	G	79403543	3	3	19	1	0	0	0	0	1	0	0	0	6042	463	16	3	8911	3	FRAS1	4	79403543	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1321634	79403543	111750733	807	15106											
PRKG2	5593	broad.mit.edu	37	chr4	82096098	82096098	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttattaagggcatctgtAatgagcttcttctcactggt	8	7	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:82096098A>G	uc003hmh.2	-	2	491	c.477T>C	c.(475-477)ATT>ATC	p.I159I	PRKG2_uc011cch.1_Silent_p.I159I	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	159					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						GGGCATCTGTAATGAGCTTCT	0.338													G	82096098	A	G	82096098	2	3	19	1	0	0	0	0	0	0	0	1	12523	358	13	3		3	PRKG2	4	82096098	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2692555	82096098	109058178	808	15107											
LIN54	132660	broad.mit.edu	37	chr4	83891603	83891603	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgatggagttccgggagtAgactgtgaaagaaccctacc	12	8	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:83891603A>G	uc003hnx.3	-	4	1206	c.828T>C	c.(826-828)TCT>TCC	p.S276S	LIN54_uc003hnz.3_Silent_p.S55S|LIN54_uc003hny.3_5'UTR|LIN54_uc010ijt.2_Intron|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Silent_p.S55S	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	lin-54 homolog isoform a	276					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Hepatocellular(203;0.114)				TTCCGGGAGTAGACTGTGAAA	0.358													G	83891603	A	G	83891603	2	3	19	1	0	0	0	0	0	0	0	1	8809	407	15	3		3	LIN54	4	83891603	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1795505	83891603	107262673	809	15108											
HPSE	10855	broad.mit.edu	37	chr4	84222192	84222192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaaggatagggtaaccGcaagtacttggtgacattat	11	5	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:84222192G>A	uc003hoj.3	-	11	1492	c.1393C>T	c.(1393-1395)CGG>TGG	p.R465W	HPSE_uc010ika.2_Missense_Mutation_p.R407W|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.R208W|HPSE_uc011cct.1_Missense_Mutation_p.R391W|HPSE_uc003hok.3_Missense_Mutation_p.R465W	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN	heparanase precursor	465					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	TAGGGTAACCGCAAGTACTTG	0.353													A	84222192	G	A	84222192	3	1	19	1	0	0	0	0	1	0	0	0	7344	1086	38	1	246	1	HPSE	4	84222192	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	330589	84222192	106932084	810	15109											
WDFY3	23001	broad.mit.edu	37	chr4	85611684	85611684	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgagggtgacggtcttggccTtttctttggaggtgcccatc	14	9	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:85611684T>A	uc003hpd.2	-	61	9746	c.9338A>T	c.(9337-9339)AAG>ATG	p.K3113M		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	3113	WD 1.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGTCTTGGCCTTTTCTTTGGA	0.512													A	85611684	T	A	85611684	3	1	19	1	0	0	0	0	1	0	0	0	17267	1609	56	5	1274	5	WDFY3	4	85611684	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1389492	85611684	105542592	811	15110											
WDFY3	23001	broad.mit.edu	37	chr4	85658383	85658383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcttcttcaatgagtggCcttgctgtagctatgtccac	10	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:85658383C>T	uc003hpd.2	-	41	7119	c.6711G>A	c.(6709-6711)AGG>AGA	p.R2237R		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2237						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAATGAGTGGCCTTGCTGTAG	0.438													T	85658383	C	T	85658383	2	4	19	1	0	0	0	0	0	0	0	1	17267	738	26	2		2	WDFY3	4	85658383	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	46699	85658383	105495893	812	15111											
WDFY3	23001	broad.mit.edu	37	chr4	85719168	85719168	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctcatttctggttcataActcagtgaacttggtttgtg	8	8	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:85719168A>G	uc003hpd.2	-	18	3324	c.2916T>C	c.(2914-2916)AGT>AGC	p.S972S		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	972						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTGGTTCATAACTCAGTGAAC	0.328													G	85719168	A	G	85719168	2	3	19	1	0	0	0	0	0	0	0	1	17267	40	2	3		3	WDFY3	4	85719168	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	60785	85719168	105435108	813	15112											
KLHL8	57563	broad.mit.edu	37	chr4	88106783	88106783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaacagtcaaagtgagccGtgaagaatagacaaacttta	9	7	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:88106783G>A	uc011cdb.1	-	3	770	c.385C>T	c.(385-387)CGG>TGG	p.R129W	KLHL8_uc003hql.1_Missense_Mutation_p.R129W|KLHL8_uc003hqm.1_Intron|KLHL8_uc003hqn.1_Intron|KLHL8_uc010ikj.1_Intron	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	kelch-like 8	129	BTB.										0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AAAGTGAGCCGTGAAGAATAG	0.413													A	88106783	G	A	88106783	3	1	19	1	0	0	0	0	1	0	0	0	8395	1144	40	1	1509	1	KLHL8	4	88106783	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2387615	88106783	103047493	814	15113											
HERC6	55008	broad.mit.edu	37	chr4	89311835	89311835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcgtggggaaagaacagCcatgggcagctgggcttggg	17	7	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:89311835C>T	uc011cdi.1	+	4	651	c.468C>T	c.(466-468)AGC>AGT	p.S156S	HERC6_uc003hrp.1_RNA|HERC6_uc011cdj.1_Silent_p.S156S|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	156	RCC1 3.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(3)|ovary(1)|kidney(1)	5		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GAAAGAACAGCCATGGGCAGC	0.507													T	89311835	C	T	89311835	2	4	19	1	0	0	0	0	0	0	0	1	7062	738	26	2		2	HERC6	4	89311835	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1205052	89311835	101842441	815	15114											
PDLIM5	10611	broad.mit.edu	37	chr4	95575764	95575764	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaattctttgcccctgaatgTggtcgatgccaaaggaagat	10	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:95575764T>C	uc003hti.2	+	10	1588	c.1437T>C	c.(1435-1437)TGT>TGC	p.C479C	PDLIM5_uc011cdx.1_Silent_p.C376C|PDLIM5_uc003hth.2_Silent_p.C370C|PDLIM5_uc003htj.2_Silent_p.C154C|PDLIM5_uc003htk.2_Silent_p.C508C|PDLIM5_uc011cdy.1_Silent_p.C357C|PDLIM5_uc003htl.2_Silent_p.C154C	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	479	LIM zinc-binding 2.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CCCCTGAATGTGGTCGATGCC	0.378													C	95575764	T	C	95575764	2	2	19	1	0	0	0	0	0	0	0	1	11683	1702	59	3		3	PDLIM5	4	95575764	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	6263929	95575764	95578512	816	15115											
UNC5C	8633	broad.mit.edu	37	chr4	96166239	96166239	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacgtttctgataccctcGtccacagcggctgttacaca	8	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:96166239G>A	uc003htp.1	-	6	986	c.832C>T	c.(832-834)CGA>TGA	p.R278*	UNC5C_uc010ilc.1_Nonsense_Mutation_p.R278*|UNC5C_uc003htq.2_Nonsense_Mutation_p.R278*	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	278	Extracellular (Potential).|TSP type-1 1.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGATACCCTCGTCCACAGCGG	0.517													A	96166239	G	A	96166239	4	1	19	1	0	0	0	0	0	1	0	0	16990	1153	40	1	2007	1	UNC5C	4	96166239	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	590475	96166239	94988037	817	15116											
ADH5	128	broad.mit.edu	37	chr4	99996121	99996121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctggaatggacgagtgGcaatttcttcacctgaagca	11	10	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:99996121G>A	uc003hui.2	-	7	985	c.905C>T	c.(904-906)GCC>GTC	p.A302V	ADH5_uc003huj.2_Missense_Mutation_p.A180V	NM_000671	NP_000662	P11766	ADHX_HUMAN	class III alcohol dehydrogenase, chi subunit	302					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	TGGACGAGTGGCAATTTCTTC	0.507													A	99996121	G	A	99996121	3	1	19	1	0	0	0	0	1	0	0	0	311	1203	42	2	231	2	ADH5	4	99996121	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3829882	99996121	91158155	818	15117											
ADH1A	124	broad.mit.edu	37	chr4	100203670	100203670	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttgttgatgtccaccgcaaTgattctggctgccccagctg	10	13	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:100203670T>A	uc003hur.1	-	6	732	c.661A>T	c.(661-663)ATT>TTT	p.I221F	uc003hum.1_Intron|ADH1A_uc011ceg.1_Missense_Mutation_p.I221F|ADH1A_uc010ilf.1_Missense_Mutation_p.I12F	NM_000667	NP_000658	P07327	ADH1A_HUMAN	class I alcohol dehydrogenase, alpha subunit	221					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TCCACCGCAATGATTCTGGCT	0.527													A	100203670	T	A	100203670	3	1	19	1	0	0	0	0	1	0	0	0	307	1464	51	5	482	5	ADH1A	4	100203670	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	207549	100203670	90950606	819	15118											
RG9MTD2	93587	broad.mit.edu	37	chr4	100477370	100477370	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggcctccgtggcttgtcAagtaaaactgataaaagatt	10	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:100477370A>G	uc003huy.2	-	5	741	c.428T>C	c.(427-429)TTG>TCG	p.L143S	RG9MTD2_uc003huz.3_Missense_Mutation_p.L143S|RG9MTD2_uc003hva.3_Missense_Mutation_p.L143S	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	RNA (guanine-9-) methyltransferase domain	143							methyltransferase activity			ovary(2)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		GTGGCTTGTCAAGTAAAACTG	0.333													G	100477370	A	G	100477370	3	3	19	1	0	0	0	0	1	0	0	0	13272	131	5	3	607	3	RG9MTD2	4	100477370	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	273700	100477370	90676906	820	15119											
RPL34	6164	broad.mit.edu	37	chr4	109543723	109543723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgtccaaaacaaagaaacAtgtcagcagggcctatggtg	10	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:109543723A>G	uc003hyz.2	+	4	262	c.218A>G	c.(217-219)CAT>CGT	p.H73R	LOC285456_uc003hyy.2_5'Flank|LOC285456_uc011cfl.1_5'Flank|RPL34_uc003hza.2_Missense_Mutation_p.H73R	NM_000995	NP_000986	P49207	RL34_HUMAN	ribosomal protein L34	73					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		ACAAAGAAACATGTCAGCAGG	0.358													G	109543723	A	G	109543723	3	3	19	1	0	0	0	0	1	0	0	0	13583	217	8	3	228	3	RPL34	4	109543723	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	9066353	109543723	81610553	821	15120											
EGF	1950	broad.mit.edu	37	chr4	110901129	110901129	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacttgaattgtttccaggTcacccatttgctgtagcagt	8	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:110901129T>C	uc003hzy.3	+	14	2507	c.2055T>C	c.(2053-2055)GGT>GGC	p.G685G	EGF_uc011cfu.1_Silent_p.G643G|EGF_uc011cfv.1_Silent_p.G685G|EGF_uc010imk.2_5'Flank	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	685	LDL-receptor class B 9.|Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TGTTTCCAGGTCACCCATTTG	0.388													C	110901129	T	C	110901129	2	2	19	1	0	0	0	0	0	0	0	1	4962	1681	58	3		3	EGF	4	110901129	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1357406	110901129	80253147	822	15121											
ENPEP	2028	broad.mit.edu	37	chr4	111482571	111482572	+	Frame_Shift_Ins	INS	-	-	T													tcttttctagatggagagctINStttttgcaaaatatccacaa							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:111482570_111482571C>CT	uc003iab.4	+	19	3072_3073	c.2730_2731C>CT	c.(2728-2733)agctttfs	p.S910fs		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	910					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AGATGGAGAGCTTTTTTGCAAA	0.356													T	111482572	-	T	111482571	7	5	19	1	0	1	1	0	0	0	0	0	5128	1609	56	0	2809	0	ENPEP	4	111482571	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	581442	111482571	79671705	823	15122											
ALPK1	80216	broad.mit.edu	37	chr4	113353418	113353418	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcctcagcgaggactgCactaccacagaggaaggaaa	11	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:113353418C>T	uc003iap.3	+	11	2994	c.2715C>T	c.(2713-2715)TGC>TGT	p.C905C	ALPK1_uc003ian.3_Silent_p.C905C|ALPK1_uc011cfx.1_Silent_p.C827C|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Silent_p.C733C	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	905							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GCGAGGACTGCACTACCACAG	0.532													T	113353418	C	T	113353418	2	4	19	1	0	0	0	0	0	0	0	1	544	718	25	2		2	ALPK1	4	113353418	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1870847	113353418	77800858	824	15123											
ALPK1	80216	broad.mit.edu	37	chr4	113356333	113356333	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttaaaatattcaaaaaaaTctgaactgtggacggcccag	8	7	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:113356333T>A	uc003iap.3	+	12	3343	c.3064T>A	c.(3064-3066)TCT>ACT	p.S1022T	ALPK1_uc003ian.3_Missense_Mutation_p.S1022T|ALPK1_uc011cfx.1_Missense_Mutation_p.S944T|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Missense_Mutation_p.S850T	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1022	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTCAAAAAAATCTGAACTGTG	0.343													A	113356333	T	A	113356333	3	1	19	1	0	0	0	0	1	0	0	0	544	1435	50	5	3102	5	ALPK1	4	113356333	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2915	113356333	77797943	825	15124											
NEUROG2	63973	broad.mit.edu	37	chr4	113436383	113436383	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcgccgtttgcaatcgtgTaccagacccagcagccgtgc	13	14	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:113436383T>C	uc003ias.2	-	2	576	c.249A>G	c.(247-249)GTA>GTG	p.V83V		NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN	neurogenin 2	83					positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			skin(2)|central_nervous_system(1)	3		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		TGCAATCGTGTACCAGACCCA	0.517													C	113436383	T	C	113436383	2	2	19	1	0	0	0	0	0	0	0	1	10353	1625	57	3		3	NEUROG2	4	113436383	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	80050	113436383	77717893	826	15125											
ANK2	287	broad.mit.edu	37	chr4	114275746	114275746	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaggaaaccatgtctgttcGggagctgatgaaggctttcc	13	8	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:114275746G>T	uc003ibe.3	+	38	6072	c.5972G>T	c.(5971-5973)CGG>CTG	p.R1991L	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.R2006L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1958					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)		ATGTCTGTTCGGGAGCTGATG	0.463													T	114275746	G	T	114275746	3	4	19	1	0	0	0	0	1	0	0	0	621	1116	39	5	6187	5	ANK2	4	114275746	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	839363	114275746	76878530	827	15126											
ANK2	287	broad.mit.edu	37	chr4	114277471	114277471	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaaaaccagctgtgattcAtgaatgtgcagaggaggatg	12	7	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:114277471A>G	uc003ibe.3	+	38	7797	c.7697A>G	c.(7696-7698)CAT>CGT	p.H2566R	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.H2581R	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2533					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)		GCTGTGATTCATGAATGTGCA	0.433													G	114277471	A	G	114277471	3	3	19	1	0	0	0	0	1	0	0	0	621	217	8	3	7912	3	ANK2	4	114277471	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1725	114277471	76876805	828	15127											
ANK2	287	broad.mit.edu	37	chr4	114277794	114277794	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacctgagttggcacagcttAaaaaaggtgctgactcaggc	11	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:114277794A>T	uc003ibe.3	+	38	8120	c.8020A>T	c.(8020-8022)AAA>TAA	p.K2674*	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Intron|ANK2_uc011cgb.1_Nonsense_Mutation_p.K2689*	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2641					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)		GGCACAGCTTAAAAAAGGTGC	0.493													T	114277794	A	T	114277794	4	4	19	1	0	0	0	0	0	1	0	0	621	363	13	5	8235	5	ANK2	4	114277794	Nonsense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	323	114277794	76876482	829	15128											
SEC24D	9871	broad.mit.edu	37	chr4	119660424	119660424	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctttgaccactgattgTcgtgtaaagcacagcacact	7	11	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:119660424T>C	uc003ici.3	-	18	2529	c.2257A>G	c.(2257-2259)ACA>GCA	p.T753A	SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Missense_Mutation_p.T754A|SEC24D_uc003icl.2_RNA	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	753					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0						CCACTGATTGTCGTGTAAAGC	0.398													C	119660424	T	C	119660424	3	2	19	1	0	0	0	0	1	0	0	0	13997	1667	58	3	865	3	SEC24D	4	119660424	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	5382630	119660424	71493852	830	15129											
USP53	54532	broad.mit.edu	37	chr4	120192602	120192602	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcagagtcgagcttctgcAcaaataataagttcaagtaa	7	9	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:120192602A>G	uc003ics.3	+	15	2653	c.1587A>G	c.(1585-1587)GCA>GCG	p.A529A	USP53_uc003icr.3_Silent_p.A529A|USP53_uc003icu.3_Silent_p.A152A|USP53_uc003ict.2_Silent_p.A152A	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	529					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4						GAGCTTCTGCACAAATAATAA	0.388													G	120192602	A	G	120192602	2	3	19	1	0	0	0	0	0	0	0	1	17081	146	6	3		3	USP53	4	120192602	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	532178	120192602	70961674	831	15130											
BBS7	55212	broad.mit.edu	37	chr4	122749572	122749572	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacttttaaagcatcaatTaactgcactttcttagccaa	3	10	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:122749572T>C	uc003ied.2	-	17	2049	c.1875A>G	c.(1873-1875)TTA>TTG	p.L625L	BBS7_uc003iee.1_Silent_p.L625L	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	625					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1						AAGCATCAATTAACTGCACTT	0.338									Bardet-Biedl_syndrome				C	122749572	T	C	122749572	2	2	19	1	0	0	0	0	0	0	0	1	1341	1751	61	3		3	BBS7	4	122749572	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2556970	122749572	68404704	832	15131											
KIAA1109	84162	broad.mit.edu	37	chr4	123095782	123095782	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggttcgtgaaatctatTacattacagaagacatgtct	7	7	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:123095782T>C	uc003ieh.2	+	3	313	c.268T>C	c.(268-270)TAC>CAC	p.Y90H		NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	90					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TGAAATCTATTACATTACAGA	0.284													C	123095782	T	C	123095782	3	2	19	1	0	0	0	0	1	0	0	0	8208	1754	61	3	278	3	KIAA1109	4	123095782	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	346210	123095782	68058494	833	15132											
KIAA1109	84162	broad.mit.edu	37	chr4	123128729	123128729	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggagaaacactaaacaTtgatttttctttgcctttta	6	7	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:123128729T>C	uc003ieh.2	+	15	1733	c.1688T>C	c.(1687-1689)ATT>ACT	p.I563T	KIAA1109_uc003iei.1_Missense_Mutation_p.I317T|KIAA1109_uc010ins.1_5'UTR|KIAA1109_uc003iej.1_5'Flank	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	563					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ACACTAAACATTGATTTTTCT	0.279													C	123128729	T	C	123128729	3	2	19	1	0	0	0	0	1	0	0	0	8208	1493	52	3	1746	3	KIAA1109	4	123128729	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	32947	123128729	68025547	834	15133											
KIAA1109	84162	broad.mit.edu	37	chr4	123161262	123161262	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaggtggagaagatgatgtTatagaacatctatatattgt	10	2	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:123161262T>C	uc003ieh.2	+	27	4470	c.4425T>C	c.(4423-4425)GTT>GTC	p.V1475V	KIAA1109_uc003iei.1_Silent_p.V1228V|KIAA1109_uc010ins.1_Silent_p.V818V|KIAA1109_uc003iek.2_Silent_p.V94V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1475					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AAGATGATGTTATAGAACATC	0.408													C	123161262	T	C	123161262	2	2	19	1	0	0	0	0	0	0	0	1	8208	1741	61	3		3	KIAA1109	4	123161262	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	32533	123161262	67993014	835	15134											
KIAA1109	84162	broad.mit.edu	37	chr4	123187969	123187969	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctcttctgagtcatacagGgatccagtcacaggatacaa	9	11	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:123187969G>T	uc003ieh.2	+	44	7394	c.7349G>T	c.(7348-7350)GGG>GTG	p.G2450V	KIAA1109_uc003iel.1_Missense_Mutation_p.G385V|KIAA1109_uc003iek.2_Missense_Mutation_p.G1069V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2450					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AGTCATACAGGGATCCAGTCA	0.393													T	123187969	G	T	123187969	3	4	19	1	0	0	0	0	1	0	0	0	8208	1232	43	5	7523	5	KIAA1109	4	123187969	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	26707	123187969	67966307	836	15135											
KIAA1109	84162	broad.mit.edu	37	chr4	123193524	123193524	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggaatcagaactgaagaggAtccatggcagttttactctt	10	7	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:123193524A>T	uc003ieh.2	+	46	8455	c.8410A>T	c.(8410-8412)ATC>TTC	p.I2804F	KIAA1109_uc003iel.1_Missense_Mutation_p.I739F|KIAA1109_uc003iek.2_Missense_Mutation_p.I1423F	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2804					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ACTGAAGAGGATCCATGGCAG	0.368													T	123193524	A	T	123193524	3	4	19	1	0	0	0	0	1	0	0	0	8208	333	12	5	8592	5	KIAA1109	4	123193524	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	5555	123193524	67960752	837	15136											
KIAA1109	84162	broad.mit.edu	37	chr4	123202719	123202719	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaaaagaagatattgcaAccccactaccttctgaaaaa	5	10	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:123202719A>G	uc003ieh.2	+	50	8872	c.8827A>G	c.(8827-8829)ACC>GCC	p.T2943A	KIAA1109_uc003iel.1_Missense_Mutation_p.T878A	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2943					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AGATATTGCAACCCCACTACC	0.348													G	123202719	A	G	123202719	3	3	19	1	0	0	0	0	1	0	0	0	8208	43	2	3	9025	3	KIAA1109	4	123202719	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	9195	123202719	67951557	838	15137											
KIAA1109	84162	broad.mit.edu	37	chr4	123271136	123271136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcacacaacaatttgatAccagcaaacgagctctgtct	5	11	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:123271136A>G	uc003ieh.2	+	78	13801	c.13756A>G	c.(13756-13758)ACC>GCC	p.T4586A	KIAA1109_uc003iem.2_Missense_Mutation_p.T942A	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4586					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ACAATTTGATACCAGCAAACG	0.398													G	123271136	A	G	123271136	3	3	19	1	0	0	0	0	1	0	0	0	8208	391	14	3	14066	3	KIAA1109	4	123271136	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	68417	123271136	67883140	839	15138											
SPRY1	10252	broad.mit.edu	37	chr4	124323424	124323424	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgcatgtgcttagtcaaGggcatcttctaccactgctc	8	13	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:124323424G>T	uc003ifa.2	+	2	866	c.678G>T	c.(676-678)AAG>AAT	p.K226N	SPRY1_uc003ifb.2_Missense_Mutation_p.K226N	NM_199327	NP_955359	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling	226	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				skin(2)|ovary(1)	3						GCTTAGTCAAGGGCATCTTCT	0.507													T	124323424	G	T	124323424	3	4	19	1	0	0	0	0	1	0	0	0	15104	991	35	5	680	5	SPRY1	4	124323424	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1052288	124323424	66830852	840	15139											
FAT4	79633	broad.mit.edu	37	chr4	126371136	126371136	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttcttaaaagtaaatatTtcactccagtcaccaaaaat	2	8	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:126371136T>C	uc003ifj.3	+	9	8965	c.8965T>C	c.(8965-8967)TTC>CTC	p.F2989L	FAT4_uc011cgp.1_Missense_Mutation_p.F1287L|FAT4_uc003ifi.1_Missense_Mutation_p.F467L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2989	Extracellular (Potential).|Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AAGTAAATATTTCACTCCAGT	0.343													C	126371136	T	C	126371136	3	2	19	1	0	0	0	0	1	0	0	0	5692	1841	64	3	8999	3	FAT4	4	126371136	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2047712	126371136	64783140	841	15140											
HSPA4L	22824	broad.mit.edu	37	chr4	128732617	128732617	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcactattcagaatgttttTccacagtctgatggtgatag	8	7	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:128732617T>C	uc003ifm.2	+	12	1657	c.1404T>C	c.(1402-1404)TTT>TTC	p.F468F	HSPA4L_uc010iny.1_Silent_p.F427F|HSPA4L_uc011cgr.1_Silent_p.F435F	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	468					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						AGAATGTTTTTCCACAGTCTG	0.368													C	128732617	T	C	128732617	2	2	19	1	0	0	0	0	0	0	0	1	7413	1780	62	3		3	HSPA4L	4	128732617	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2361481	128732617	62421659	842	15141											
PLK4	10733	broad.mit.edu	37	chr4	128819592	128819592	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttcttttgcttcacttAggtatggagaaaatgaaaaa	7	4	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:128819592A>G	uc003ifo.2	+	16	3056	c.2811_splice	c.e16-2	p.R937_splice	PLK4_uc011cgs.1_Splice_Site_p.R905_splice|PLK4_uc011cgt.1_Splice_Site_p.R896_splice	NM_014264	NP_055079	O00444	PLK4_HUMAN	polo-like kinase 4						G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						TGCTTCACTTAGGTATGGAGA	0.313													G	128819592	A	G	128819592	5	3	19	1	0	0	0	0	0	0	1	0	12098	434	15	3	2871	3	PLK4	4	128819592	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	86975	128819592	62334684	843	15142											
PGRMC2	10424	broad.mit.edu	37	chr4	129193591	129193591	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagagatcatcatattcaTctctaagtgcatctttatct	5	9	6	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:129193591T>C	uc003igg.2	-	2	505	c.500A>G	c.(499-501)GAT>GGT	p.D167G		NM_006320	NP_006311			progesterone receptor membrane component 2												0						ATCATATTCATCTCTAAGTGC	0.378													C	129193591	T	C	129193591	3	2	19	1	0	0	0	0	1	0	0	0	11807	1435	50	3	179	3	PGRMC2	4	129193591	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	373999	129193591	61960685	844	15143											
PCDH10	57575	broad.mit.edu	37	chr4	134071968	134071969	+	Frame_Shift_Ins	INS	-	-	C													tggcgggggagcaggcctgcINSccccccagcagcagcgcacc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:134071967_134071968G>GC	uc003iha.3	+	0	1498_1499	c.672_673G>GC	c.(670-675)ctgcccfs	p.L224fs	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Frame_Shift_Ins_p.L224fs	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	224	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		gagcaggCCTGCCCCCCCAGCA	0.668													C	134071969	-	C	134071968	7	5	19	1	0	1	1	0	0	0	0	0	11507	739	26	0	675	0	PCDH10	4	134071968	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	4878377	134071968	57082308	845	15144											
PCDH10	57575	broad.mit.edu	37	chr4	134072100	134072100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctcccccaggcactctcGtgatccagctcaacgccacc	6	20	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:134072100G>A	uc003iha.2	+	1	1631	c.805G>A	c.(805-807)GTG>ATG	p.V269M	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.V269M	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	269	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		AGGCACTCTCGTGATCCAGCT	0.612													A	134072100	G	A	134072100	3	1	19	1	0	0	0	0	1	0	0	0	11507	1145	40	1	807	1	PCDH10	4	134072100	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	132	134072100	57082176	846	15145											
PCDH10	57575	broad.mit.edu	37	chr4	134084157	134084157	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatctcttctccaattgcacTgaggaatgtaaagctctggg	10	9	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:134084157T>G	uc003iha.2	+	4	3649	c.2823T>G	c.(2821-2823)ACT>ACG	p.T941T		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	941	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CCAATTGCACTGAGGAATGTA	0.468													G	134084157	T	G	134084157	2	3	19	1	0	0	0	0	0	0	0	1	11507	1567	55	5		5	PCDH10	4	134084157	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	12057	134084157	57070119	847	15146											
PCDH18	54510	broad.mit.edu	37	chr4	138442824	138442824	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcagagtgtcccaggacccTgcactcctccgtgcagagtc	11	15	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:138442824T>C	uc003ihe.3	-	4	3154	c.2767A>G	c.(2767-2769)AGG>GGG	p.R923G	PCDH18_uc003ihf.3_Missense_Mutation_p.R915G|PCDH18_uc011cgz.1_Missense_Mutation_p.R134G|PCDH18_uc003ihg.3_Missense_Mutation_p.R702G|PCDH18_uc011cha.1_Missense_Mutation_p.R103G	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	923	Interaction with DAB1 (By similarity).|Cytoplasmic (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					CCCAGGACCCTGCACTCCTCC	0.458													C	138442824	T	C	138442824	3	2	19	1	0	0	0	0	1	0	0	0	11513	1579	55	3	644	3	PCDH18	4	138442824	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	4358667	138442824	52711452	848	15147											
CCRN4L	25819	broad.mit.edu	37	chr4	139964348	139964348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacccagagcatctggagcCcattgatcctaaagagcttc	9	12	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:139964348C>T	uc003ihl.2	+	2	504	c.311C>T	c.(310-312)CCC>CTC	p.P104L	CCRN4L_uc003ihk.1_Missense_Mutation_p.P104L	NM_012118	NP_036250	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like	104					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1	all_hematologic(180;0.162)					CATCTGGAGCCCATTGATCCT	0.557													T	139964348	C	T	139964348	3	4	19	1	0	0	0	0	1	0	0	0	2951	623	22	4	317	4	CCRN4L	4	139964348	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1521524	139964348	51189928	849	15148											
C4orf49	84709	broad.mit.edu	37	chr4	140189882	140189882	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcaaatttgttttatgttctGtgtgtttggcttggtctgat	10	4	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:140189882G>C	uc003ihr.1	-	3	404	c.224C>G	c.(223-225)ACA>AGA	p.T75R		NM_032623	NP_116012	Q8TDB4	CD049_HUMAN	ovary-specific acidic protein	75						integral to membrane				central_nervous_system(1)|skin(1)	2						TTTATGTTCTGTGTGTTTGGC	0.303													C	140189882	G	C	140189882	3	2	19	1	0	0	0	0	1	0	0	0	2275	1377	48	5	506	5	C4orf49	4	140189882	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	225534	140189882	50964394	850	15149											
MAML3	55534	broad.mit.edu	37	chr4	140640863	140640863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcccgtgttagcatccaCgactgactggctcagtccct	10	14	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:140640863C>T	uc003ihz.1	-	7	3768	c.3016G>A	c.(3016-3018)GTG>ATG	p.V1006M	MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.V474M	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	1007					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					TTAGCATCCACGACTGACTGG	0.612													T	140640863	C	T	140640863	3	4	19	1	0	0	0	0	1	0	0	0	9207	536	19	1	389	1	MAML3	4	140640863	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	450981	140640863	50513413	851	15150											
CLGN	1047	broad.mit.edu	37	chr4	141317347	141317347	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatcttctatttgggcaggTtcactttcatccctgtaaat	7	9	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:141317347T>C	uc011chi.1	-	10	1115	c.897A>G	c.(895-897)GAA>GAG	p.E299E	CLGN_uc003iii.2_Silent_p.E299E	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	299	Lumenal (Potential).				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)					TTTGGGCAGGTTCACTTTCAT	0.333													C	141317347	T	C	141317347	2	2	19	1	0	0	0	0	0	0	0	1	3524	1722	60	3		3	CLGN	4	141317347	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	676484	141317347	49836929	852	15151											
CLGN	1047	broad.mit.edu	37	chr4	141323176	141323176	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgctaggagtttaatgTatgcacctccacaatcaata	7	9	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:141323176T>C	uc011chi.1	-	7	682	c.464A>G	c.(463-465)TAC>TGC	p.Y155C	CLGN_uc003iii.2_Missense_Mutation_p.Y155C	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	155	Lumenal (Potential).				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)					GAGTTTAATGTATGCACCTCC	0.274													C	141323176	T	C	141323176	3	2	19	1	0	0	0	0	1	0	0	0	3524	1638	57	3	1408	3	CLGN	4	141323176	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	5829	141323176	49831100	853	15152											
RNF150	57484	broad.mit.edu	37	chr4	141832328	141832328	+	Frame_Shift_Del	DEL	G	G	-													aaagatgacgtctccctcctGggggatggggtctgtatcct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:141832327_141832327TG>T	uc003iio.1	-	5	1823	c.1169_1169CA>A	c.(1168-1170)cagfs	p.Q390fs	RNF150_uc010iok.1_Frame_Shift_Del_p.Q348fs|RNF150_uc003iip.1_Frame_Shift_Del_p.Q390fs	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	390						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GTCTCCCTCCTGGGGGATGGG	0.498													-	141832328	G	-	141832328	7	5	19	1	0	1	0	1	0	0	0	0	13451	1357	47	0	156	0	RNF150	4	141832328	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	509152	141832328	49321948	854	15153											
IL15	3600	broad.mit.edu	37	chr4	142651089	142651089	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgcaagtattcatgatacAgtagaaaatctgatcatcct	7	7	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:142651089A>G	uc003iis.2	+	7	699	c.330A>G	c.(328-330)ACA>ACG	p.T110T	IL15_uc003iit.2_Silent_p.T110T|IL15_uc010iol.2_RNA|IL15_uc003iiu.2_RNA	NM_000585	NP_000576	P40933	IL15_HUMAN	interleukin 15 preproprotein	110					cell-cell signaling|immune response|positive regulation of interleukin-17 production	endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity				0	all_hematologic(180;0.158)					TTCATGATACAGTAGAAAATC	0.378													G	142651089	A	G	142651089	2	3	19	1	0	0	0	0	0	0	0	1	7631	175	7	3		3	IL15	4	142651089	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	818761	142651089	48503187	855	15154											
USP38	84640	broad.mit.edu	37	chr4	144135635	144135635	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgaagcttcctgcacaAaattggtgccctatctatta	7	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:144135635A>G	uc003ijb.2	+	9	3040	c.2506A>G	c.(2506-2508)AAA>GAA	p.K836E	USP38_uc003ija.3_Missense_Mutation_p.K836E|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	836					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)					TTCCTGCACAAAATTGGTGCC	0.398													G	144135635	A	G	144135635	3	3	19	1	0	0	0	0	1	0	0	0	17066	15	1	3	2540	3	USP38	4	144135635	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1484546	144135635	47018641	856	15155											
TTC29	83894	broad.mit.edu	37	chr4	147824752	147824752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcggcttctttcttcccaCagtcaattttgatcagctga	6	13	4	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:147824752C>T	uc003ikw.3	-	6	757	c.530G>A	c.(529-531)TGT>TAT	p.C177Y	TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Missense_Mutation_p.C203Y|TTC29_uc010ipd.1_Missense_Mutation_p.C177Y	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	177							binding				0	all_hematologic(180;0.151)					TTTCTTCCCACAGTCAATTTT	0.448													T	147824752	C	T	147824752	3	4	19	1	0	0	0	0	1	0	0	0	16693	478	17	4	929	4	TTC29	4	147824752	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3689117	147824752	43329524	857	15156											
MAB21L2	10586	broad.mit.edu	37	chr4	151504506	151504506	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcgatgggcggaagcggAgcatgtctctctgggtcgag	18	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:151504506A>G	uc003ilw.2	+	1	1430	c.325A>G	c.(325-327)AGC>GGC	p.S109G	LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	mab-21-like protein 2	109					nervous system development	nucleus				ovary(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GCGGAAGCGGAGCATGTCTCT	0.622													G	151504506	A	G	151504506	3	3	19	1	0	0	0	0	1	0	0	0	9142	304	11	3	327	3	MAB21L2	4	151504506	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3679754	151504506	39649770	858	15157											
FHDC1	85462	broad.mit.edu	37	chr4	153886120	153886120	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattgcatcatgttcagaagActgctaggtgagcaagtgaa	11	6	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:153886120A>G	uc003inf.2	+	8	1168	c.1093A>G	c.(1093-1095)ACT>GCT	p.T365A		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	365	FH2.				actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					TGTTCAGAAGACTGCTAGGTG	0.308													G	153886120	A	G	153886120	3	3	19	1	0	0	0	0	1	0	0	0	5876	275	10	3	1123	3	FHDC1	4	153886120	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2381614	153886120	37268156	859	15158											
DCHS2	54798	broad.mit.edu	37	chr4	155180907	155180907	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttctttcacagtgagttgTcctatttttatttccaagga	8	7	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:155180907T>C	uc003inw.2	-	20	5214	c.5214A>G	c.(5212-5214)GGA>GGG	p.G1738G		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1738	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGTGAGTTGTCCTATTTTTA	0.264													C	155180907	T	C	155180907	2	2	19	1	0	0	0	0	0	0	0	1	4288	1681	58	3		3	DCHS2	4	155180907	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1294787	155180907	35973369	860	15159											
DCHS2	54798	broad.mit.edu	37	chr4	155219676	155219676	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagtgtgggaaaagaaggActgtggtcattggcatccaa	13	5	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:155219676A>G	uc003inw.2	-	18	4425	c.4425T>C	c.(4423-4425)AGT>AGC	p.S1475S		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1475	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAAAAGAAGGACTGTGGTCAT	0.473													G	155219676	A	G	155219676	2	3	19	1	0	0	0	0	0	0	0	1	4288	272	10	3		3	DCHS2	4	155219676	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	38769	155219676	35934600	861	15160											
MAP9	79884	broad.mit.edu	37	chr4	156289783	156289783	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttttttctcagcttctaaTtgtatgccattcggcgttgg	9	9	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:156289783T>C	uc003ios.2	-	5	927	c.663A>G	c.(661-663)CAA>CAG	p.Q221Q	MAP9_uc011cin.1_Silent_p.Q220Q|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Silent_p.Q220Q|MAP9_uc010iqb.1_Silent_p.Q148Q	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	aster-associated protein	221					cell division|mitosis	cytoplasm|microtubule|spindle				ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CAGCTTCTAATTGTATGCCAT	0.398													C	156289783	T	C	156289783	2	2	19	1	0	0	0	0	0	0	0	1	9270	1490	52	3		3	MAP9	4	156289783	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1070107	156289783	34864493	862	15161											
RXFP1	59350	broad.mit.edu	37	chr4	159568163	159568163	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatccttttagatgtgtgagAcctggaaaatgcagaacaat	9	6	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:159568163A>G	uc003ipz.2	+	16	1648	c.1566A>G	c.(1564-1566)AGA>AGG	p.R522R	RXFP1_uc011cja.1_Silent_p.R417R|RXFP1_uc010iqo.2_Silent_p.R474R|RXFP1_uc011cjb.1_Silent_p.R420R|RXFP1_uc010iqk.2_Silent_p.R390R|RXFP1_uc011cjc.1_Silent_p.R441R|RXFP1_uc011cjd.1_Silent_p.R441R|RXFP1_uc010iql.2_Silent_p.R366R|RXFP1_uc011cje.1_Silent_p.R549R|RXFP1_uc010iqm.2_Silent_p.R489R|RXFP1_uc011cjf.1_Silent_p.R391R|RXFP1_uc010iqn.2_Silent_p.R467R	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	522	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GATGTGTGAGACCTGGAAAAT	0.343													G	159568163	A	G	159568163	2	3	19	1	0	0	0	0	0	0	0	1	13759	272	10	3		3	RXFP1	4	159568163	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3278380	159568163	31586113	863	15162											
ETFDH	2110	broad.mit.edu	37	chr4	159627420	159627420	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattctgttagaaatataagAccgtcctgccacggagtact	8	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:159627420A>G	uc003iqb.2	+	11	1697	c.1365A>G	c.(1363-1365)AGA>AGG	p.R455R	ETFDH_uc011cjg.1_Silent_p.R408R|ETFDH_uc010iqr.2_Silent_p.R52R|ETFDH_uc011cjh.1_Silent_p.R394R|ETFDH_uc010iqs.2_Silent_p.R377R	NM_004453	NP_004444	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	455					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			large_intestine(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		GAAATATAAGACCGTCCTGCC	0.383													G	159627420	A	G	159627420	2	3	19	1	0	0	0	0	0	0	0	1	5271	272	10	3		3	ETFDH	4	159627420	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	59257	159627420	31526856	864	15163											
ETFDH	2110	broad.mit.edu	37	chr4	159629557	159629557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaacaaggtgatggatttCggttacagataaatgctcag	12	5	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:159629557C>T	uc003iqb.2	+	13	2064	c.1732C>T	c.(1732-1734)CGG>TGG	p.R578W	ETFDH_uc011cjg.1_Missense_Mutation_p.R531W|ETFDH_uc010iqr.2_Missense_Mutation_p.R175W|ETFDH_uc011cjh.1_Missense_Mutation_p.R517W|ETFDH_uc010iqs.2_Missense_Mutation_p.R500W	NM_004453	NP_004444	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	578	4Fe-4S ferredoxin-type.				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			large_intestine(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TGATGGATTTCGGTTACAGAT	0.318													T	159629557	C	T	159629557	3	4	19	1	0	0	0	0	1	0	0	0	5271	875	31	1	1782	1	ETFDH	4	159629557	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2137	159629557	31524719	865	15164											
PPID	5481	broad.mit.edu	37	chr4	159636518	159636518	+	Frame_Shift_Del	DEL	T	T	-													tgaaaaaagtatttccaatgTtttttaagtcttctgttatt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:159636518delT	uc003iqc.2	-	6	795	c.683delA	c.(682-684)AACfs	p.N228fs		NM_005038	NP_005029	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	228	TPR 1.				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		ATTTCCAATGTTTTTTAAGTC	0.219													-	159636518	T	-	159636518	7	5	19	1	0	1	0	1	0	0	0	0	12321	1725	60	0	449	0	PPID	4	159636518	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	6961	159636518	31517758	866	15165											
PPID	5481	broad.mit.edu	37	chr4	159642617	159642617	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacgatatctgcaaacaatTctaagacaattcgaccaact	5	10	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:159642617T>G	uc003iqc.2	-	2	216	c.104A>C	c.(103-105)GAA>GCA	p.E35A		NM_005038	NP_005029	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	35	PPIase cyclophilin-type.				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		TGCAAACAATTCTAAGACAAT	0.368													G	159642617	T	G	159642617	3	3	19	1	0	0	0	0	1	0	0	0	12321	1783	62	5	1044	5	PPID	4	159642617	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	6099	159642617	31511659	867	15166											
FNIP2	57600	broad.mit.edu	37	chr4	159789660	159789661	+	Frame_Shift_Ins	INS	-	-	G													ctaacaggaggccagagcagINSggttctgaggcttgcagcgc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:159789659_159789660A>AG	uc003iqe.4	+	12	2054_2055	c.1871_1872A>AG	c.(1870-1872)cagfs	p.Q624fs		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	624	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AGGCCAGAGCAGGGTTCTGAGG	0.554													G	159789661	-	G	159789660	7	5	19	1	0	1	1	0	0	0	0	0	5976	991	35	0	1922	0	FNIP2	4	159789660	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	147043	159789660	31364616	868	15167											
ANXA10	11199	broad.mit.edu	37	chr4	169013864	169013864	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccatcaaaatgttttgtggaGactatgtgagtataatgctt	9	5	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:169013864G>A	uc003irm.2	+	1	158	c.13G>A	c.(13-15)GAC>AAC	p.D5N		NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	annexin A10	5							calcium ion binding|calcium-dependent phospholipid binding				0		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		GTTTTGTGGAGACTATGTGAG	0.289													A	169013864	G	A	169013864	3	1	19	1	0	0	0	0	1	0	0	0	715	942	33	4	15	4	ANXA10	4	169013864	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	9224204	169013864	22140412	869	15168											
CLCN3	1182	broad.mit.edu	37	chr4	170611768	170611768	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtttccctggtaaaggtaTttgctccatatgcctgtggc	10	10	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:170611768T>C	uc003isi.2	+	6	1203	c.694T>C	c.(694-696)TTT>CTT	p.F232L	CLCN3_uc003ish.2_Missense_Mutation_p.F232L|CLCN3_uc011cjz.1_Missense_Mutation_p.F215L|CLCN3_uc011cka.1_Missense_Mutation_p.F232L|CLCN3_uc003isj.1_Missense_Mutation_p.F205L	NM_001829	NP_001820	P51790	CLCN3_HUMAN	chloride channel 3 isoform b	232	Helical; (By similarity).				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GGTAAAGGTATTTGCTCCATA	0.368													C	170611768	T	C	170611768	3	2	19	1	0	0	0	0	1	0	0	0	3464	1493	52	3	712	3	CLCN3	4	170611768	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1597904	170611768	20542508	870	15169											
HMGB2	3148	broad.mit.edu	37	chr4	174254362	174254362	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgacttctcctttgcagacaTggtctgtggacataaaataa	8	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:174254362T>C	uc011ckc.1	-	2	274	c.154A>G	c.(154-156)ATG>GTG	p.M52V	HMGB2_uc003ita.3_Missense_Mutation_p.M52V|HMGB2_uc003itb.2_Missense_Mutation_p.M52V|HMGB2_uc003itc.2_Missense_Mutation_p.M52V	NM_001130689	NP_001124161	P26583	HMGB2_HUMAN	high-mobility group box 2	52	HMG box 1.				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding				0		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TTTGCAGACATGGTCTGTGGA	0.373													C	174254362	T	C	174254362	3	2	19	1	0	0	0	0	1	0	0	0	7226	1464	51	3	487	3	HMGB2	4	174254362	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	3642594	174254362	16899914	871	15170											
AGA	175	broad.mit.edu	37	chr4	178354503	178354503	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtattctacagcttggtagcTgattgaaacagaggtgaaac	11	6	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:178354503T>C	uc003iuu.1	-	8	869	c.807_splice	c.e8-1	p.S269_splice	AGA_uc010irt.1_Intron	NM_000027	NP_000018	P20933	ASPG_HUMAN	aspartylglucosaminidase precursor						asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity				0		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		GCTTGGTAGCTGATTGAAACA	0.368													C	178354503	T	C	178354503	5	2	19	1	0	0	0	0	0	0	1	0	365	1594	55	3	243	3	AGA	4	178354503	Splice_Site	SNP	T	TCGA-BR-4361-01A-01D-1158-08	4100141	178354503	12799773	872	15171											
ODZ3	55714	broad.mit.edu	37	chr4	183658145	183658145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccaaaagtggtttcctgCctcaccaaacttggcctata	6	13	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:183658145C>T	uc003ivd.1	+	16	3189	c.3152C>T	c.(3151-3153)GCC>GTC	p.A1051V	ODZ3_uc003ive.1_Missense_Mutation_p.A457V	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1051	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TGGTTTCCTGCCTCACCAAAC	0.368													T	183658145	C	T	183658145	3	4	19	1	0	0	0	0	1	0	0	0	10836	739	26	2	3214	2	ODZ3	4	183658145	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	5303642	183658145	7496131	873	15172											
CASP3	836	broad.mit.edu	37	chr4	185553055	185553055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatggctcagaagcacaCaaacaaaactgctccttttg	6	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:185553055C>T	uc003iwh.2	-	6	610	c.347G>A	c.(346-348)TGT>TAT	p.C116Y	CASP3_uc003iwg.2_Missense_Mutation_p.C116Y|CASP3_uc003iwi.2_Missense_Mutation_p.C116Y	NM_004346	NP_004337	P42574	CASP3_HUMAN	caspase 3 preproprotein	116					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			kidney(1)	1		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	CAGAAGCACACAAACAAAACT	0.343													T	185553055	C	T	185553055	3	4	19	1	0	0	0	0	1	0	0	0	2672	478	17	4	498	4	CASP3	4	185553055	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1894910	185553055	5601221	874	15173											
SLC25A4	291	broad.mit.edu	37	chr4	186066006	186066006	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatccctaaggagcagggctTcctctccttctggaggggta	12	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:186066006T>C	uc003ixd.2	+	2	329	c.200T>C	c.(199-201)TTC>TCC	p.F67S	SLC25A4_uc003ixe.2_RNA	NM_001151	NP_001142	P12235	ADT1_HUMAN	adenine nucleotide translocator 1	67	Solcar 1.				energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding			ovary(1)	1		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	GAGCAGGGCTTCCTCTCCTTC	0.527													C	186066006	T	C	186066006	3	2	19	1	0	0	0	0	1	0	0	0	14504	1783	62	3	206	3	SLC25A4	4	186066006	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	512951	186066006	5088270	875	15174											
SNX25	83891	broad.mit.edu	37	chr4	186283815	186283815	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcccgccacggtataataAaaatattcaatgcactgcaa	6	10	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:186283815A>G	uc003ixh.2	+	18	2581	c.2392A>G	c.(2392-2394)AAA>GAA	p.K798E	SNX25_uc010ish.2_Missense_Mutation_p.K514E|SNX25_uc003ixi.2_Missense_Mutation_p.K302E	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	798					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CGGTATAATAAAAATATTCAA	0.383													G	186283815	A	G	186283815	3	3	19	1	0	0	0	0	1	0	0	0	14896	15	1	3	2458	3	SNX25	4	186283815	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	217809	186283815	4870461	876	15175											
UFSP2	55325	broad.mit.edu	37	chr4	186324686	186324686	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtcttcagcaccggtatAatgtggatctagaatcagaa	10	8	4	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:186324686A>G	uc003ixo.2	-	11	1402	c.1285T>C	c.(1285-1287)TAT>CAT	p.Y429H	UFSP2_uc003ixn.2_Missense_Mutation_p.Y304H|UFSP2_uc003ixq.2_Missense_Mutation_p.Y319H|UFSP2_uc003ixp.2_RNA	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	429						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GCACCGGTATAATGTGGATCT	0.388													G	186324686	A	G	186324686	3	3	19	1	0	0	0	0	1	0	0	0	16935	362	13	3	132	3	UFSP2	4	186324686	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	40871	186324686	4829590	877	15176											
TLR3	7098	broad.mit.edu	37	chr4	187004019	187004019	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaactcctttacaagtttGcgaactttgacaaatgaaac	5	10	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:187004019G>A	uc003iyq.2	+	4	1280	c.1179G>A	c.(1177-1179)TTG>TTA	p.L393L	TLR3_uc011ckz.1_Silent_p.L116L|TLR3_uc003iyr.2_Silent_p.L116L	NM_003265	NP_003256	O15455	TLR3_HUMAN	toll-like receptor 3 precursor	393	LRR 14.|Lumenal (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			ovary(2)|prostate(1)|lung(1)|breast(1)	5		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTACAAGTTTGCGAACTTTGA	0.328													A	187004019	G	A	187004019	2	1	19	1	0	0	0	0	0	0	0	1	15949	1310	46	2		2	TLR3	4	187004019	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	679333	187004019	4150257	878	15177											
KLKB1	3818	broad.mit.edu	37	chr4	187155135	187155135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttgaaagatagtgttaCaggaaccctgccaaaagtac	8	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:187155135C>T	uc003iyy.2	+	4	322	c.251C>T	c.(250-252)ACA>ATA	p.T84I	KLKB1_uc011clc.1_5'UTR|KLKB1_uc011cld.1_Missense_Mutation_p.T46I	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	84	Apple 1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GATAGTGTTACAGGAACCCTG	0.353													T	187155135	C	T	187155135	3	4	19	1	0	0	0	0	1	0	0	0	8412	478	17	4	261	4	KLKB1	4	187155135	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	151116	187155135	3999141	879	15178											
F11	2160	broad.mit.edu	37	chr4	187192764	187192764	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccatgtactacatcacagaAtgtgtgactcagttgttgaa	9	8	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:187192764A>G	uc003iza.1	+	3	390	c.57A>G	c.(55-57)GAA>GAG	p.E19E	F11_uc003iyz.2_Silent_p.E19E	NM_000128	NP_000119	P03951	FA11_HUMAN	coagulation factor XI precursor	19					blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity				0		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	ACATCACAGAATGTGTGACTC	0.458													G	187192764	A	G	187192764	2	3	19	1	0	0	0	0	0	0	0	1	5337	115	4	3		3	F11	4	187192764	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	37629	187192764	3961512	880	15179											
FAT1	2195	broad.mit.edu	37	chr4	187540381	187540381	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aatggcttcagggcgtgccgGtgcaggtttgagagggtgat	18	6	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:187540381G>C	uc003izf.2	-	10	7547	c.7359C>G	c.(7357-7359)CAC>CAG	p.H2453Q		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2453	Extracellular (Potential).|Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GGGCGTGCCGGTGCAGGTTTG	0.433										HNSCC(5;0.00058)			C	187540381	G	C	187540381	3	2	19	1	0	0	0	0	1	0	0	0	5689	1252	44	5	6479	5	FAT1	4	187540381	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	347617	187540381	3613895	881	15180											
FAT1	2195	broad.mit.edu	37	chr4	187541428	187541428	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactgtctctgtctacagcAgtgacatagcgaatgacatg	9	11	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:187541428A>G	uc003izf.2	-	10	6500	c.6312T>C	c.(6310-6312)ACT>ACC	p.T2104T		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2104	Extracellular (Potential).|Cadherin 19.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TGTCTACAGCAGTGACATAGC	0.463										HNSCC(5;0.00058)			G	187541428	A	G	187541428	2	3	19	1	0	0	0	0	0	0	0	1	5689	175	7	3		3	FAT1	4	187541428	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1047	187541428	3612848	882	15181											
FAT1	2195	broad.mit.edu	37	chr4	187628543	187628543	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtggattatcattggcatcGacaaccacgacatgtagaag	11	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:187628543G>A	uc003izf.2	-	2	2627	c.2439C>T	c.(2437-2439)GTC>GTT	p.V813V	FAT1_uc010iso.1_Silent_p.V813V	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	813	Extracellular (Potential).|Cadherin 6.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CATTGGCATCGACAACCACGA	0.458										HNSCC(5;0.00058)			A	187628543	G	A	187628543	2	1	19	1	0	0	0	0	0	0	0	1	5689	1045	37	1		1	FAT1	4	187628543	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	87115	187628543	3525733	883	15182											
PLEKHG4B	153478	broad.mit.edu	37	chr5	156323	156323	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcttggcacagaagacagCcggtgagcgctcacaggggt	16	10	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:156323C>T	uc003jak.2	+	8	1328	c.1278C>T	c.(1276-1278)AGC>AGT	p.S426S		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	426					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAGAAGACAGCCGGTGAGCGC	0.647													T	156323	C	T	156323	2	4	19	1	0	0	0	0	0	0	0	1	12072	738	26	2		2	PLEKHG4B	5	156323	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08		156323	180758937	884	15183											
PLEKHG4B	153478	broad.mit.edu	37	chr5	169705	169705	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgggccgcagtttcctgagaCacgtaagtgcaggccatggc	14	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:169705C>G	uc003jak.2	+	12	2709	c.2659C>G	c.(2659-2661)CAC>GAC	p.H887D		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	887	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TTTCCTGAGACACGTAAGTGC	0.657													G	169705	C	G	169705	3	3	19	1	0	0	0	0	1	0	0	0	12072	478	17	5	2705	5	PLEKHG4B	5	169705	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	13382	169705	180745555	885	15184											
PLEKHG4B	153478	broad.mit.edu	37	chr5	171406	171406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagcgtgtggccaagtaCgcgctgctactccaggacct	13	13	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:171406C>T	uc003jak.2	+	14	2879	c.2829C>T	c.(2827-2829)TAC>TAT	p.Y943Y		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	943	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TGGCCAAGTACGCGCTGCTAC	0.677													T	171406	C	T	171406	2	4	19	1	0	0	0	0	0	0	0	1	12072	547	19	1		1	PLEKHG4B	5	171406	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1701	171406	180743854	886	15185											
SLC9A3	6550	broad.mit.edu	37	chr5	481730	481730	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggatatgtcctcgatggcCgagaggatgtggtcgaaagc	15	9	0	1	rs146433621	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:481730C>T	uc003jbe.2	-	9	1579	c.1467G>A	c.(1465-1467)TCG>TCA	p.S489S	SLC9A3_uc011clx.1_Silent_p.S480S	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	489	Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCTCGATGGCCGAGAGGATGT	0.612													T	481730	C	T	481730	2	4	19	1	0	0	0	0	0	0	0	1	14713	639	23	1		1	SLC9A3	5	481730	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	310324	481730	180433530	887	15186											
SLC9A3	6550	broad.mit.edu	37	chr5	484636	484636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtgggagggactcacgCgaggatggccgacagcgaca	18	9	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:484636C>T	uc003jbe.2	-	5	1043	c.931G>A	c.(931-933)GCC>ACC	p.A311T	SLC9A3_uc011clx.1_Missense_Mutation_p.A311T	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	311	Extracellular (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGGACTCACGCGAGGATGGCC	0.642													T	484636	C	T	484636	3	4	19	1	0	0	0	0	1	0	0	0	14713	782	27	1	1625	1	SLC9A3	5	484636	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2906	484636	180430624	888	15187											
IRX1	79192	broad.mit.edu	37	chr5	3600279	3600279	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcgccccatggccctcaccTtcctgcacctccaccaccgc	6	24	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:3600279T>G	uc003jde.2	+	2	1269	c.1217T>G	c.(1216-1218)CTT>CGT	p.L406R		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	406						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						GGCCCTCACCTTCCTGCACCT	0.682													G	3600279	T	G	3600279	3	3	19	1	0	0	0	0	1	0	0	0	7843	1609	56	5	1223	5	IRX1	5	3600279	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	3115643	3600279	177314981	889	15188											
ADAMTS16	170690	broad.mit.edu	37	chr5	5239878	5239878	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctacctcctacatttctgTgcgcaatgccctcagaaggt	7	14	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:5239878T>C	uc003jdl.2	+	16	2501	c.2363T>C	c.(2362-2364)GTG>GCG	p.V788A	ADAMTS16_uc003jdk.1_Missense_Mutation_p.V788A	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	788	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						TACATTTCTGTGCGCAATGCC	0.502													C	5239878	T	C	5239878	3	2	19	1	0	0	0	0	1	0	0	0	261	1696	59	3	2425	3	ADAMTS16	5	5239878	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1639599	5239878	175675382	890	15189											
KIAA0947	23379	broad.mit.edu	37	chr5	5461230	5461231	+	Frame_Shift_Ins	INS	-	-	A													atctagagaattggaaaaggINSaaaaagaagatactcaaggg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:5461230_5461231insA	uc003jdm.3	+	13	2005_2006	c.1783_1784insA	c.(1783-1785)GAAfs	p.E595fs		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	595										ovary(1)|central_nervous_system(1)	2						ATTGGAAAAGGAAAAAGAAGAT	0.401													A	5461231	-	A	5461230	7	5	19	1	0	1	1	0	0	0	0	0	8202	1175	41	0	1833	0	KIAA0947	5	5461230	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	221352	5461230	175454030	891	15190	51	2									
KIAA0947	23379	broad.mit.edu	37	chr5	5461231	5461232	+	Frame_Shift_Ins	INS	-	-	A													tctagagaattggaaaaggaINSaaaagaagatactcaagggt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:5461230_5461231G>GA	uc003jdm.4	+	12	2005_2006	c.1783_1784G>GA	c.(1783-1785)gaafs	p.E595fs		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	595										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ATTGGAAAAGGAAAAAGAAGAT	0.401													A	5461232	-	A	5461231	7	5	19	1	0	1	1	0	0	0	0	0	8202	246	9	0	1834	0	KIAA0947	5	5461231	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	1	5461231	175454029	892	15191	51	2									
NSUN2	54888	broad.mit.edu	37	chr5	6604762	6604762	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaactcttcaccgctgtTatttctacaccagactttga	5	12	4	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:6604762T>C	uc003jdu.2	-	16	1839	c.1774A>G	c.(1774-1776)AAC>GAC	p.N592D	NSUN2_uc003jds.2_Missense_Mutation_p.N38D|NSUN2_uc003jdt.2_Missense_Mutation_p.N356D|NSUN2_uc011cmk.1_Missense_Mutation_p.N557D|NSUN2_uc003jdv.2_Missense_Mutation_p.N356D	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	592						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1						TCACCGCTGTTATTTCTACAC	0.443													C	6604762	T	C	6604762	3	2	19	1	0	0	0	0	1	0	0	0	10678	1754	61	3	545	3	NSUN2	5	6604762	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1143531	6604762	174310498	893	15192											
PAPD7	11044	broad.mit.edu	37	chr5	6754991	6754991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacaccaccagtataaccGcaccggctggaggaggaaaa	13	11	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:6754991G>A	uc003jdx.1	+	13	1691	c.1562G>A	c.(1561-1563)CGC>CAC	p.R521H	PAPD7_uc011cmn.1_Missense_Mutation_p.R511H|PAPD7_uc010itl.1_Missense_Mutation_p.R341H	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	521					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			ovary(1)	1						CAGTATAACCGCACCGGCTGG	0.642													A	6754991	G	A	6754991	3	1	19	1	0	0	0	0	1	0	0	0	11426	1087	38	1	1608	1	PAPD7	5	6754991	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	150229	6754991	174160269	894	15193											
ADCY2	108	broad.mit.edu	37	chr5	7709482	7709482	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagcatgaccacagagaaCggcaagatcagcaccacggt	11	12	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:7709482C>T	uc003jdz.1	+	10	1627	c.1560C>T	c.(1558-1560)AAC>AAT	p.N520N	ADCY2_uc011cmo.1_Silent_p.N340N	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	520	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						CCACAGAGAACGGCAAGATCA	0.587													T	7709482	C	T	7709482	2	4	19	1	0	0	0	0	0	0	0	1	294	535	19	1		1	ADCY2	5	7709482	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	954491	7709482	173205778	895	15194											
DNAH5	1767	broad.mit.edu	37	chr5	13737440	13737440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttctgtgtcacctcctcGgctgtcctttttgtgttact	8	12	2	0	rs140960222		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:13737440G>A	uc003jfd.2	-	66	11418	c.11376C>T	c.(11374-11376)GCC>GCT	p.A3792A	DNAH5_uc003jfc.2_Intron	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3792	Potential.|AAA 5 (By similarity).				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)					TCACCTCCTCGGCTGTCCTTT	0.458									Kartagener_syndrome				A	13737440	G	A	13737440	2	1	19	1	0	0	0	0	0	0	0	1	4604	1103	39	1		1	DNAH5	5	13737440	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	6027958	13737440	167177820	896	15195											
TRIO	7204	broad.mit.edu	37	chr5	14399145	14399145	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagtgaaagattccagtgGgagaagcaagtacctttata	11	5	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:14399145G>T	uc003jff.2	+	30	4586	c.4580G>T	c.(4579-4581)GGG>GTG	p.G1527V	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.G1478V|TRIO_uc003jfh.1_Missense_Mutation_p.G1176V	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1527	PH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GATTCCAGTGGGAGAAGCAAG	0.373													T	14399145	G	T	14399145	3	4	19	1	0	0	0	0	1	0	0	0	16549	1232	43	5	4698	5	TRIO	5	14399145	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	661705	14399145	166516115	897	15196											
FAM105B	90268	broad.mit.edu	37	chr5	14681586	14681586	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagggctatgaagaggTttctcagaagttcacctcca	9	11	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:14681586T>C	uc003jfk.2	+	4	490	c.338T>C	c.(337-339)GTT>GCT	p.V113A		NM_138348	NP_612357	Q96BN8	F105B_HUMAN	hypothetical protein LOC90268	113										ovary(2)	2	Lung NSC(4;0.00696)					TATGAAGAGGTTTCTCAGAAG	0.502													C	14681586	T	C	14681586	3	2	19	1	0	0	0	0	1	0	0	0	5388	1725	60	3	352	3	FAM105B	5	14681586	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	282441	14681586	166233674	898	15197											
MYO10	4651	broad.mit.edu	37	chr5	16668508	16668508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtcttccctctccacGcttgtagacggagacggcgt	12	13	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:16668508G>A	uc003jft.3	-	40	6421	c.5953C>T	c.(5953-5955)CGT>TGT	p.R1985C	MYO10_uc011cnb.1_Missense_Mutation_p.R614C|MYO10_uc011cnc.1_Missense_Mutation_p.R864C|MYO10_uc011cnd.1_Missense_Mutation_p.R1342C|MYO10_uc011cne.1_Missense_Mutation_p.R1342C|MYO10_uc010itx.2_Missense_Mutation_p.R1607C	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1985	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						CCCTCTCCACGCTTGTAGACG	0.547													A	16668508	G	A	16668508	3	1	19	1	0	0	0	0	1	0	0	0	10062	1087	38	1	231	1	MYO10	5	16668508	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1986922	16668508	164246752	899	15198											
MYO10	4651	broad.mit.edu	37	chr5	16670846	16670846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggatcctgtccggaagctcCgcctcagggtcccctctagg	12	16	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:16670846C>T	uc003jft.3	-	39	6140	c.5672G>A	c.(5671-5673)CGG>CAG	p.R1891Q	MYO10_uc011cnb.1_Missense_Mutation_p.R520Q|MYO10_uc011cnc.1_Missense_Mutation_p.R770Q|MYO10_uc011cnd.1_Missense_Mutation_p.R1248Q|MYO10_uc011cne.1_Missense_Mutation_p.R1248Q|MYO10_uc010itx.2_Missense_Mutation_p.R1513Q	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1891	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						CCGGAAGCTCCGCCTCAGGGT	0.587													T	16670846	C	T	16670846	3	4	19	1	0	0	0	0	1	0	0	0	10062	652	23	1	516	1	MYO10	5	16670846	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2338	16670846	164244414	900	15199											
CDH10	1008	broad.mit.edu	37	chr5	24488219	24488219	+	Frame_Shift_Del	DEL	T	T	-													tttgacaagatcagaggctcTttttttcgctgtcttttcag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:24488218_24488218CT>C	uc003jgr.2	-	11	2427	c.1921_1921AG>G	c.(1921-1923)gagfs	p.E641fs	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	641					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATCAGAGGCTCTTTTTTTCGC	0.408										HNSCC(23;0.051)			-	24488219	T	-	24488219	7	5	19	1	0	1	0	1	0	0	0	0	3096	1606	56	0	450	0	CDH10	5	24488219	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	7817373	24488219	156427041	901	15200											
PDZD2	23037	broad.mit.edu	37	chr5	31799657	31799658	+	Frame_Shift_Ins	INS	-	-	G													gactatggtgaaaagcgcagINSggggggcaagaagaggaaaa							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:31799656_31799657A>AG	uc003jhl.3	+	1	689_690	c.301_302A>AG	c.(301-303)aggfs	p.R101fs	PDZD2_uc003jhm.3_Frame_Shift_Ins_p.R101fs	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	101	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574													G	31799658	-	G	31799657	7	5	19	1	0	1	1	0	0	0	0	0	11701	1000	35	0	304	0	PDZD2	5	31799657	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	7311438	31799657	149115603	902	15201											
NPR3	4883	broad.mit.edu	37	chr5	32712294	32712294	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctggggccagtgtgcgagTatgcagcagcgccagtggcc	16	12	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:32712294T>C	uc003jhv.2	+	1	630	c.412T>C	c.(412-414)TAT>CAT	p.Y138H	NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.Y138H	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	138	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	AGTGTGCGAGTATGCAGCAGC	0.672													C	32712294	T	C	32712294	3	2	19	1	0	0	0	0	1	0	0	0	10596	1638	57	3	414	3	NPR3	5	32712294	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	912637	32712294	148202966	903	15202											
ADAMTS12	81792	broad.mit.edu	37	chr5	33596060	33596060	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggtggacaagccttttcaTggcacttcttctgtctccca	9	12	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:33596060T>C	uc003jia.1	-	17	2796	c.2633A>G	c.(2632-2634)CAT>CGT	p.H878R	ADAMTS12_uc010iuq.1_Missense_Mutation_p.H793R	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	878	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						AGCCTTTTCATGGCACTTCTT	0.527										HNSCC(64;0.19)			C	33596060	T	C	33596060	3	2	19	1	0	0	0	0	1	0	0	0	257	1464	51	3	2183	3	ADAMTS12	5	33596060	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	883766	33596060	147319200	904	15203											
SLC45A2	51151	broad.mit.edu	37	chr5	33947401	33947401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagagcccaataaatcccGtccccaggccaaacagcaaa	8	14	0	1	rs149980670		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:33947401G>A	uc003jid.2	-	6	1327	c.1235C>T	c.(1234-1236)ACG>ATG	p.T412M	SLC45A2_uc003jie.2_Missense_Mutation_p.T412M	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	412	Helical; Name=9; (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.T412M(1)		ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						AATAAATCCCGTCCCCAGGCC	0.488													A	33947401	G	A	33947401	3	1	19	1	0	0	0	0	1	0	0	0	14641	1145	40	1	380	1	SLC45A2	5	33947401	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	351341	33947401	146967859	905	15204											
BRIX1	55299	broad.mit.edu	37	chr5	34923248	34923248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttaactagatctttagtaCaccacggtatcatcccaaaa	4	10	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:34923248C>T	uc003jja.2	+	8	596	c.572C>T	c.(571-573)ACA>ATA	p.T191I	BRIX1_uc011col.1_3'UTR	NM_018321	NP_060791	Q8TDN6	BRX1_HUMAN	BRIX	191	Brix.				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding				0						ATCTTTAGTACACCACGGTAT	0.323													T	34923248	C	T	34923248	3	4	19	1	0	0	0	0	1	0	0	0	1515	478	17	4	602	4	BRIX1	5	34923248	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	975847	34923248	145992012	906	15205											
SPEF2	79925	broad.mit.edu	37	chr5	35795817	35795817	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtaggctggtctgtggTttacaggagatgaagatata	13	3	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:35795817T>C	uc003jjo.2	+	33	4861	c.4750T>C	c.(4750-4752)TTT>CTT	p.F1584L	SPEF2_uc003jjp.1_Missense_Mutation_p.F1070L|SPEF2_uc003jjr.2_Missense_Mutation_p.F639L	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1584					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGTCTGTGGTTTACAGGAGA	0.348													C	35795817	T	C	35795817	3	2	19	1	0	0	0	0	1	0	0	0	15034	1725	60	3	4901	3	SPEF2	5	35795817	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	872569	35795817	145119443	907	15206											
SPEF2	79925	broad.mit.edu	37	chr5	35800082	35800082	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcagtttttctttaggCtatttgctgactatgagaag	11	5	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:35800082C>A	uc003jjo.2	+	34	4954	c.4843C>A	c.(4843-4845)CTA>ATA	p.L1615I	SPEF2_uc003jjp.1_Missense_Mutation_p.L1101I|SPEF2_uc003jjr.2_Missense_Mutation_p.L670I	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1615					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTCTTTAGGCTATTTGCTGA	0.358													A	35800082	C	A	35800082	3	1	19	1	0	0	0	0	1	0	0	0	15034	796	28	5	4998	5	SPEF2	5	35800082	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	4265	35800082	145115178	908	15207											
NIPBL	25836	broad.mit.edu	37	chr5	36985832	36985832	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaacattgagatcctctagTagaaatgaacatggcattaa	8	6	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:36985832T>C	uc003jkl.3	+	10	3049	c.2550T>C	c.(2548-2550)AGT>AGC	p.S850S	NIPBL_uc003jkk.3_Silent_p.S850S|NIPBL_uc003jkm.1_Silent_p.S729S	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	850					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GATCCTCTAGTAGAAATGAAC	0.408													C	36985832	T	C	36985832	2	2	19	1	0	0	0	0	0	0	0	1	10428	1635	57	3		3	NIPBL	5	36985832	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1185750	36985832	143929428	909	15208											
NIPBL	25836	broad.mit.edu	37	chr5	37059070	37059070	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcgacagtgaagaagaAgtttccaggcctcggaagtc	12	9	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:37059070A>G	uc003jkl.3	+	44	7987	c.7488A>G	c.(7486-7488)GAA>GAG	p.E2496E	NIPBL_uc003jkk.3_Silent_p.E2496E|NIPBL_uc003jkn.2_Silent_p.E189E	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	2496					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GTGAAGAAGAAGTTTCCAGGC	0.323													G	37059070	A	G	37059070	2	3	19	1	0	0	0	0	0	0	0	1	10428	69	3	3		3	NIPBL	5	37059070	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	73238	37059070	143856190	910	15209											
LIFR	3977	broad.mit.edu	37	chr5	38496504	38496504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttggaatttccatactcGctattttggaaggtggtgat	10	6	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:38496504G>A	uc010ive.1	-	13	2197	c.1865C>T	c.(1864-1866)GCG>GTG	p.A622V	LIFR_uc003jli.2_Missense_Mutation_p.A622V	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	622	Extracellular (Potential).|Fibronectin type-III 4.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					TTCCATACTCGCTATTTTGGA	0.393			T	PLAG1	salivary adenoma								A	38496504	G	A	38496504	3	1	19	1	0	0	0	0	1	0	0	0	8780	1087	38	1	1460	1	LIFR	5	38496504	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1437434	38496504	142418756	911	15210											
C9	735	broad.mit.edu	37	chr5	39331866	39331866	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttacagagtccattgtagAactcattgtcaaaaggtgtg	11	6	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:39331866A>G	uc003jlv.3	-	5	616	c.527T>C	c.(526-528)TTC>TCC	p.F176S		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	176	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCCATTGTAGAACTCATTGTC	0.438													G	39331866	A	G	39331866	3	3	19	1	0	0	0	0	1	0	0	0	2443	246	9	3	1180	3	C9	5	39331866	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	835362	39331866	141583394	912	15211											
DAB2	1601	broad.mit.edu	37	chr5	39393475	39393475	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaccttgctaagagatAttcatctgtcttttcagggc	8	8	4	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:39393475A>G	uc003jlx.2	-	3	643	c.112T>C	c.(112-114)TAT>CAT	p.Y38H	DAB2_uc003jlw.2_Missense_Mutation_p.Y38H	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	38					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			GCTAAGAGATATTCATCTGTC	0.388													G	39393475	A	G	39393475	3	3	19	1	0	0	0	0	1	0	0	0	4218	449	16	3	2248	3	DAB2	5	39393475	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	61609	39393475	141521785	913	15212											
C6	729	broad.mit.edu	37	chr5	41203199	41203199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacacccacctgtgtctgCtctgggttccagaattgcaa	8	14	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:41203199C>T	uc003jmk.2	-	2	344	c.134G>A	c.(133-135)AGC>AAC	p.S45N	C6_uc003jml.1_Missense_Mutation_p.S45N	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	45	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCTGTGTCTGCTCTGGGTTCC	0.493													T	41203199	C	T	41203199	3	4	19	1	0	0	0	0	1	0	0	0	2315	797	28	2	2738	2	C6	5	41203199	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1809724	41203199	139712061	914	15213											
NNT	23530	broad.mit.edu	37	chr5	43656831	43656831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactggctgctagtgtgggCgggataatcccattcatggt	13	8	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:43656831C>T	uc003joe.2	+	16	2625	c.2370C>T	c.(2368-2370)GGC>GGT	p.G790G	NNT_uc003jof.2_Silent_p.G790G	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	790	Helical; (Potential).				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	CTAGTGTGGGCGGGATAATCC	0.507													T	43656831	C	T	43656831	2	4	19	1	0	0	0	0	0	0	0	1	10510	755	27	1		1	NNT	5	43656831	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2453632	43656831	137258429	915	15214											
CDC20B	166979	broad.mit.edu	37	chr5	54420721	54420721	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catattgtcagcagtccatcActgcagccgctggaaagcag	10	12	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:54420721A>G	uc003jpo.1	-	9	1300	c.1125T>C	c.(1123-1125)AGT>AGC	p.S375S	CDC20B_uc003jpn.1_Silent_p.S375S|CDC20B_uc010ivu.1_Silent_p.S375S|CDC20B_uc010ivv.1_3'UTR	NM_152623	NP_689836	Q86Y33	CD20B_HUMAN	CDC20 cell division cycle 20 homolog B isoform	375	WD 4.										0		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GCAGTCCATCACTGCAGCCGC	0.562													G	54420721	A	G	54420721	2	3	19	1	0	0	0	0	0	0	0	1	3060	156	6	3		3	CDC20B	5	54420721	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	10763890	54420721	126494539	916	15215											
IL31RA	133396	broad.mit.edu	37	chr5	55168141	55168141	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgtacaaccaatagttctAcaagtgaaaatcgtgcttcg	7	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:55168141A>G	uc003jql.2	+	4	381	c.316A>G	c.(316-318)ACA>GCA	p.T106A	IL31RA_uc003jqk.2_Missense_Mutation_p.T106A|IL31RA_uc011cqj.1_5'UTR|IL31RA_uc003jqm.2_Missense_Mutation_p.T74A|IL31RA_uc003jqn.2_Missense_Mutation_p.T106A|IL31RA_uc010iwa.1_Missense_Mutation_p.T74A|IL31RA_uc003jqo.2_5'UTR	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	74	Extracellular (Potential).|Fibronectin type-III 1.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CAATAGTTCTACAAGTGAAAA	0.353													G	55168141	A	G	55168141	3	3	19	1	0	0	0	0	1	0	0	0	7691	391	14	3	330	3	IL31RA	5	55168141	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	747420	55168141	125747119	917	15216											
DEPDC1B	55789	broad.mit.edu	37	chr5	59893631	59893631	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttggaaaggcttctttagTgcccacattagcagctgtgg	13	8	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:59893631T>C	uc003jsh.2	-	11	1612	c.1539A>G	c.(1537-1539)GCA>GCG	p.A513A	DEPDC1B_uc011cqm.1_Silent_p.A451A|DEPDC1B_uc011cqn.1_Silent_p.A424A	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	513					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				GCTTCTTTAGTGCCCACATTA	0.418													C	59893631	T	C	59893631	2	2	19	1	0	0	0	0	0	0	0	1	4440	1683	59	3		3	DEPDC1B	5	59893631	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	4725490	59893631	121021629	918	15217											
ERCC8	1161	broad.mit.edu	37	chr5	60198332	60198332	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctaatatttcttgtctgTgacctgcaaatacaactata	5	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:60198332T>C	uc003jsm.3	-	7	624	c.554A>G	c.(553-555)CAC>CGC	p.H185R	ERCC8_uc003jsk.2_RNA|ERCC8_uc003jsl.3_Missense_Mutation_p.H127R|ERCC8_uc011cqp.1_Missense_Mutation_p.H32R	NM_000082	NP_000073	Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent	185	WD 3.				positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding				0		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				TTCTTGTCTGTGACCTGCAAA	0.338								Direct_reversal_of_damage|NER					C	60198332	T	C	60198332	3	2	19	1	0	0	0	0	1	0	0	0	5219	1696	59	3	660	3	ERCC8	5	60198332	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	304701	60198332	120716928	919	15218											
C5orf43	643155	broad.mit.edu	37	chr5	60455819	60455819	+	Frame_Shift_Del	DEL	T	T	-													tttgcaatgttttcttggcgTttttgcttcttcttttgctc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:60455819delT	uc010iwm.1	-	3	607	c.180delA	c.(178-180)AAAfs	p.K60fs	C5orf43_uc010iwl.1_RNA	NM_001048249	NP_001041714	Q7Z3B0	CE043_HUMAN	hypothetical protein LOC643155	60	Potential.					integral to membrane					0						TTTCTTGGCGTTTTTGCTTCT	0.418													-	60455819	T	-	60455819	7	5	19	1	0	1	0	1	0	0	0	0	2302	1722	60	0	48	0	C5orf43	5	60455819	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	257487	60455819	120459441	920	15219											
KIF2A	3796	broad.mit.edu	37	chr5	61642978	61642978	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgaatacatcaagcaatggTaacatctttaaatgaagata	6	7	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:61642978T>C	uc003jsy.3	+	2	397	c.86T>C	c.(85-87)GTA>GCA	p.V29A	KIF2A_uc003jsz.3_Missense_Mutation_p.V29A|KIF2A_uc010iwp.2_Missense_Mutation_p.V29A|KIF2A_uc003jsx.3_Missense_Mutation_p.V9A|KIF2A_uc010iwq.2_5'Flank	NM_004520	NP_004511	O00139	KIF2A_HUMAN	kinesin heavy chain member 2 isoform 1	29	Globular (Potential).				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding				0		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		CAAGCAATGGTAACATCTTTA	0.308													C	61642978	T	C	61642978	3	2	19	1	0	0	0	0	1	0	0	0	8297	1638	57	3	92	3	KIF2A	5	61642978	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1187159	61642978	119272282	921	15220											
DIMT1L	27292	broad.mit.edu	37	chr5	61694653	61694653	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtatactcacgtgcccTgaactcttttgtgaagttca	7	9	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:61694653T>A	uc003jta.2	-	4	425	c.296A>T	c.(295-297)CAG>CTG	p.Q99L	DIMT1L_uc011cqq.1_Missense_Mutation_p.Q99L	NM_014473	NP_055288	Q9UNQ2	DIMT1_HUMAN	dimethyladenosine transferase	99						nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			central_nervous_system(1)	1		Lung NSC(810;8.94e-06)|Prostate(74;0.0235)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.122)		TCACGTGCCCTGAACTCTTTT	0.328													A	61694653	T	A	61694653	3	1	19	1	0	0	0	0	1	0	0	0	4523	1580	55	5	681	5	DIMT1L	5	61694653	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	51675	61694653	119220607	922	15221											
IPO11	51194	broad.mit.edu	37	chr5	61847115	61847115	+	Frame_Shift_Del	DEL	T	T	-													gttctactacaaaacactagTtttttttcttcactacttaa							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:61847115delT	uc003jtc.2	+	26	2602	c.2412delT	c.(2410-2412)AGTfs	p.S804fs	IPO11_uc011cqr.1_Frame_Shift_Del_p.S844fs|IPO11_uc003jtd.1_RNA|IPO11_uc010iwr.2_Frame_Shift_Del_p.S69fs	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2	804	HEAT 12.					cytoplasm|nucleus	protein binding			lung(2)|skin(2)	4		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AAAACACTAGTTTTTTTTCTT	0.303													-	61847115	T	-	61847115	7	5	19	1	0	1	0	1	0	0	0	0	7793	1722	60	0	2634	0	IPO11	5	61847115	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	152462	61847115	119068145	923	15222											
PPWD1	23398	broad.mit.edu	37	chr5	64881889	64881889	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggagaaagcatatggggaGgagaatttgaagatgaattt	15	1	0	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:64881889G>T	uc003jtv.3	+	10	1685	c.1678G>T	c.(1678-1680)GGA>TGA	p.G560*	PPWD1_uc011cqv.1_Nonsense_Mutation_p.G530*|PPWD1_uc011cqw.1_Nonsense_Mutation_p.G404*	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat	560	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		CATATGGGGAGGAGAATTTGA	0.408													T	64881889	G	T	64881889	4	4	19	1	0	0	0	0	0	1	0	0	12414	1001	35	5	1716	5	PPWD1	5	64881889	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3034774	64881889	116033371	924	15223											
PPWD1	23398	broad.mit.edu	37	chr5	64883133	64883133	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagtgactaaaggaatggaAgttgtacagaggatctccaa	12	6	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:64883133A>G	uc003jtv.3	+	11	1858	c.1851A>G	c.(1849-1851)GAA>GAG	p.E617E	PPWD1_uc011cqv.1_Silent_p.E587E|PPWD1_uc011cqw.1_Silent_p.E461E	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat	617	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		AAGGAATGGAAGTTGTACAGA	0.373													G	64883133	A	G	64883133	2	3	19	1	0	0	0	0	0	0	0	1	12414	69	3	3		3	PPWD1	5	64883133	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1244	64883133	116032127	925	15224											
ERBB2IP	55914	broad.mit.edu	37	chr5	65309420	65309420	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttaaacctaacccagttgTatctgaatgatgcttttctt	6	8	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:65309420T>C	uc003juk.1	+	6	738	c.430T>C	c.(430-432)TAT>CAT	p.Y144H	ERBB2IP_uc003juh.1_Missense_Mutation_p.Y144H|ERBB2IP_uc003jui.1_Missense_Mutation_p.Y144H|ERBB2IP_uc003juj.1_Missense_Mutation_p.Y144H|ERBB2IP_uc011cqx.1_Missense_Mutation_p.Y144H|ERBB2IP_uc011cqy.1_Missense_Mutation_p.Y144H|ERBB2IP_uc011cqz.1_Missense_Mutation_p.Y144H|ERBB2IP_uc010iwx.1_Missense_Mutation_p.Y144H|ERBB2IP_uc003jul.1_Missense_Mutation_p.Y144H	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	144	LRR 6.				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AACCCAGTTGTATCTGAATGA	0.313													C	65309420	T	C	65309420	3	2	19	1	0	0	0	0	1	0	0	0	5207	1638	57	3	444	3	ERBB2IP	5	65309420	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	426287	65309420	115605840	926	15225											
ERBB2IP	55914	broad.mit.edu	37	chr5	65340099	65340099	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagatttgaaaccacaTgaagatcaacaagatataaa	8	5	1	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:65340099T>C	uc003juk.1	+	17	1871	c.1563T>C	c.(1561-1563)CAT>CAC	p.H521H	ERBB2IP_uc003juh.1_Silent_p.H521H|ERBB2IP_uc003jui.1_Silent_p.H521H|ERBB2IP_uc003juj.1_Silent_p.H521H|ERBB2IP_uc011cqx.1_Silent_p.H521H|ERBB2IP_uc011cqy.1_Silent_p.H521H|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Silent_p.H521H|ERBB2IP_uc003jul.1_Silent_p.H521H	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	521					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TGAAACCACATGAAGATCAAC	0.318													C	65340099	T	C	65340099	2	2	19	1	0	0	0	0	0	0	0	1	5207	1461	51	3		3	ERBB2IP	5	65340099	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	30679	65340099	115575161	927	15226											
MAST4	375449	broad.mit.edu	37	chr5	66459345	66459345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcaagcgcgtgcagtcCgaggagaagctgtcgccctc	13	14	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:66459345C>T	uc003jut.1	+	28	3839	c.3771C>T	c.(3769-3771)TCC>TCT	p.S1257S	MAST4_uc003juw.2_Silent_p.S1185S|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1449						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCGTGCAGTCCGAGGAGAAGC	0.642													T	66459345	C	T	66459345	2	4	19	1	0	0	0	0	0	0	0	1	9327	639	23	1		1	MAST4	5	66459345	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1119246	66459345	114455915	928	15227											
PIK3R1	5295	broad.mit.edu	37	chr5	67576452	67576452	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttacgcttcagtatttgtTaaaacatttcttcaagctct	5	9	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:67576452T>C	uc003jva.2	+	6	1291	c.731T>C	c.(730-732)TTA>TCA	p.L244S	PIK3R1_uc003jvb.2_Missense_Mutation_p.L244S	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	244	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAGTATTTGTTAAAACATTTC	0.383			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)			C	67576452	T	C	67576452	3	2	19	1	0	0	0	0	1	0	0	0	11918	1764	61	3	749	3	PIK3R1	5	67576452	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1117107	67576452	113338808	929	15228											
MAP1B	4131	broad.mit.edu	37	chr5	71491781	71491781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatcgaagacgaagagaaaCtgaaggaaactgagccagtc	11	7	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:71491781C>T	uc003kbw.3	+	5	2840	c.2599C>T	c.(2599-2601)CTG>TTG	p.L867L	MAP1B_uc010iyw.1_Silent_p.L884L|MAP1B_uc010iyx.1_Silent_p.L741L|MAP1B_uc010iyy.1_Silent_p.L741L	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	867						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CGAAGAGAAACTGAAGGAAAC	0.488													T	71491781	C	T	71491781	2	4	19	1	0	0	0	0	0	0	0	1	9228	564	20	4		4	MAP1B	5	71491781	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3915329	71491781	109423479	930	15229											
FCHO2	115548	broad.mit.edu	37	chr5	72313086	72313086	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctaatactacagttgaaagTttgatacaaaaatttgctga	7	5	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:72313086T>C	uc003kcl.2	+	8	863	c.747T>C	c.(745-747)AGT>AGC	p.S249S	FCHO2_uc011csl.1_Silent_p.S216S|FCHO2_uc011csk.1_Silent_p.S249S|FCHO2_uc011csm.1_Silent_p.S55S	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2 isoform a	249										ovary(1)	1		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		CAGTTGAAAGTTTGATACAAA	0.294													C	72313086	T	C	72313086	2	2	19	1	0	0	0	0	0	0	0	1	5788	1722	60	3		3	FCHO2	5	72313086	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	821305	72313086	108602174	931	15230											
TMEM171	134285	broad.mit.edu	37	chr5	72427510	72427510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatatgaagaaaaagaaaatGctgcagctacattcttgcct	8	7	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:72427510G>A	uc003kcm.2	+	4	1132	c.928G>A	c.(928-930)GCT>ACT	p.A310T	TMEM171_uc003kcn.3_Missense_Mutation_p.A309T	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	transmembrane protein 171 isoform 1	310						integral to membrane					0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		AAAAGAAAATGCTGCAGCTAC	0.383													A	72427510	G	A	72427510	3	1	19	1	0	0	0	0	1	0	0	0	16085	1319	46	2	938	2	TMEM171	5	72427510	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	114424	72427510	108487750	932	15231											
HEXB	3074	broad.mit.edu	37	chr5	74016518	74016518	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctggagttccaaagatgtcaGagatatggatgacgcctatg	12	7	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:74016518G>C	uc003kdf.3	+	13	1676	c.1559G>C	c.(1558-1560)AGA>ACA	p.R520T	HEXB_uc003kdd.2_Missense_Mutation_p.R295T|HEXB_uc010izh.2_RNA	NM_000521	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B preproprotein	520					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		AAAGATGTCAGAGATATGGAT	0.428													C	74016518	G	C	74016518	3	2	19	1	0	0	0	0	1	0	0	0	7074	942	33	5	1609	5	HEXB	5	74016518	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1589008	74016518	106898742	933	15232											
GFM2	84340	broad.mit.edu	37	chr5	74026118	74026118	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagtttaggatggtctctcGatatgccacctggagaggcc	13	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:74026118G>A	uc003kdh.1	-	17	1997	c.1693C>T	c.(1693-1695)CGA>TGA	p.R565*	GFM2_uc003kdi.1_Nonsense_Mutation_p.R518*|GFM2_uc010izj.1_Nonsense_Mutation_p.R597*|GFM2_uc010izk.1_Intron	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	mitochondrial elongation factor G2 isoform 1	565					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity				0		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		ATGGTCTCTCGATATGCCACC	0.368													A	74026118	G	A	74026118	4	1	19	1	0	0	0	0	0	1	0	0	6342	1066	37	1	666	1	GFM2	5	74026118	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	9600	74026118	106889142	934	15233											
POC5	134359	broad.mit.edu	37	chr5	74981304	74981304	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttttattatttgtggagtCtatccctataaatcacaaat	4	7	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:74981304C>T	uc003keh.3	-	10	1332	c.1135G>A	c.(1135-1137)GAC>AAC	p.D379N	POC5_uc010izu.2_Missense_Mutation_p.D262N|POC5_uc003keg.3_Missense_Mutation_p.D354N	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN	proteome of centriole 5 isoform 1	379					cell cycle	centriole				lung(1)	1						TTTGTGGAGTCTATCCCTATA	0.378													T	74981304	C	T	74981304	3	4	19	1	0	0	0	0	1	0	0	0	12177	913	32	4	604	4	POC5	5	74981304	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	955186	74981304	105933956	935	15234											
PDE8B	8622	broad.mit.edu	37	chr5	76714268	76714268	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacattttcaagaatattgAcaggtttgttgtgctggggc	11	6	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:76714268A>G	uc003kfa.2	+	18	2171	c.2126A>G	c.(2125-2127)GAC>GGC	p.D709G	PDE8B_uc003kfb.2_Missense_Mutation_p.D689G|PDE8B_uc003kfc.2_Missense_Mutation_p.D654G|PDE8B_uc003kfd.2_Missense_Mutation_p.D662G|PDE8B_uc003kfe.2_Missense_Mutation_p.D612G	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	709	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		AAGAATATTGACAGGTTTGTT	0.463													G	76714268	A	G	76714268	3	3	19	1	0	0	0	0	1	0	0	0	11654	275	10	3	2196	3	PDE8B	5	76714268	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1732964	76714268	104200992	936	15235											
CMYA5	202333	broad.mit.edu	37	chr5	79027098	79027098	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagttctgtcagtagacgGcaaggaggtcattggaccat	12	9	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:79027098G>T	uc003kgc.2	+	2	2582	c.2510G>T	c.(2509-2511)GGC>GTC	p.G837V		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	837						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCAGTAGACGGCAAGGAGGTC	0.458													T	79027098	G	T	79027098	3	4	19	1	0	0	0	0	1	0	0	0	3590	1203	42	5	2516	5	CMYA5	5	79027098	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2312830	79027098	101888162	937	15236											
MSH3	4437	broad.mit.edu	37	chr5	80074641	80074641	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgactgcagtgctgaatgGcttgattttctagagtgagt	12	6	1	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:80074641G>A	uc003kgz.2	+	17	2674	c.2421G>A	c.(2419-2421)TGG>TGA	p.W807*		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	807					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GTGCTGAATGGCTTGATTTTC	0.373								MMR					A	80074641	G	A	80074641	4	1	19	1	0	0	0	0	0	1	0	0	9871	1212	42	2	2487	2	MSH3	5	80074641	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1047543	80074641	100840619	938	15237											
RASGRF2	5924	broad.mit.edu	37	chr5	80382666	80382666	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacagagtaatgcacgaTgaagtcagcgacactgaaaa	10	8	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:80382666T>C	uc003kha.1	+	9	1284	c.1284T>C	c.(1282-1284)GAT>GAC	p.D428D	RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Silent_p.D256D	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	428	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TAATGCACGATGAAGTCAGCG	0.468													C	80382666	T	C	80382666	2	2	19	1	0	0	0	0	0	0	0	1	13073	1461	51	3		3	RASGRF2	5	80382666	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	308025	80382666	100532594	939	15238											
ZCCHC9	84240	broad.mit.edu	37	chr5	80600735	80600735	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatccctcaaaaatgatgcAccccaagcaaaacataaaaa	3	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:80600735A>G	uc003khj.2	+	2	292	c.159A>G	c.(157-159)GCA>GCG	p.A53A	RNU5E_uc011cto.1_Intron|ZCCHC9_uc003khk.3_Silent_p.A53A|ZCCHC9_uc003khi.2_Silent_p.A53A	NM_001131035	NP_001124507	Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	53							nucleic acid binding|zinc ion binding			ovary(1)	1		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		AAAATGATGCACCCCAAGCAA	0.388													G	80600735	A	G	80600735	2	3	19	1	0	0	0	0	0	0	0	1	17592	146	6	3		3	ZCCHC9	5	80600735	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	218069	80600735	100314525	940	15239											
SSBP2	23635	broad.mit.edu	37	chr5	80762804	80762804	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgcttacatgttcattccAggcattccagggccacctaa	7	12	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:80762804A>G	uc003kho.2	-	9	838	c.627T>C	c.(625-627)CCT>CCC	p.P209P	SSBP2_uc010jar.2_Silent_p.P97P|SSBP2_uc003khn.2_Silent_p.P83P|SSBP2_uc003khp.2_Silent_p.P217P|SSBP2_uc011ctp.1_Silent_p.P189P|SSBP2_uc011ctq.1_Silent_p.P187P|SSBP2_uc011ctr.1_Silent_p.P179P	NM_012446	NP_036578	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	209	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	haematopoietic_and_lymphoid_tissue(4)|skin(1)	5		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TGTTCATTCCAGGCATTCCAG	0.338													G	80762804	A	G	80762804	2	3	19	1	0	0	0	0	0	0	0	1	15179	175	7	3		3	SSBP2	5	80762804	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	162069	80762804	100152456	941	15240											
LYSMD3	116068	broad.mit.edu	37	chr5	89815165	89815165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtattgaacagatgaatgaCgtgaagtctgtcttcctttt	9	6	2	5	rs139750200	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:89815165C>T	uc003kjr.2	-	3	540	c.392G>A	c.(391-393)CGT>CAT	p.R131H	LYSMD3_uc010jaz.1_Intron|LYSMD3_uc003kjs.1_Silent_p.T111T	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain	131	Extracellular (Potential).				cell wall macromolecule catabolic process	integral to membrane					0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		AGATGAATGACGTGAAGTCTG	0.383													T	89815165	C	T	89815165	3	4	19	1	0	0	0	0	1	0	0	0	9126	536	19	1	532	1	LYSMD3	5	89815165	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	9052361	89815165	91100095	942	15241											
GPR98	84059	broad.mit.edu	37	chr5	89948258	89948258	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggcaggagttctatgAaacttcaggaactgttaact	11	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:89948258A>G	uc003kju.2	+	19	3608	c.3512A>G	c.(3511-3513)GAA>GGA	p.E1171G	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1171	Calx-beta 9.|Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAGTTCTATGAAACTTCAGGA	0.393													G	89948258	A	G	89948258	3	3	19	1	0	0	0	0	1	0	0	0	6721	246	9	3	3586	3	GPR98	5	89948258	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	133093	89948258	90967002	943	15242											
GPR98	84059	broad.mit.edu	37	chr5	89979549	89979549	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcactgtggagatattgccTgacgaagacccagaactgga	11	9	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:89979549T>C	uc003kju.2	+	28	5907	c.5811T>C	c.(5809-5811)CCT>CCC	p.P1937P	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1937	Calx-beta 13.|Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGATATTGCCTGACGAAGACC	0.473													C	89979549	T	C	89979549	2	2	19	1	0	0	0	0	0	0	0	1	6721	1567	55	3		3	GPR98	5	89979549	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	31291	89979549	90935711	944	15243											
GPR98	84059	broad.mit.edu	37	chr5	89992933	89992933	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggaattgttagctttcagAcagcttccagatctgtcata	8	9	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:89992933A>G	uc003kju.2	+	34	8221	c.8125A>G	c.(8125-8127)ACA>GCA	p.T2709A	GPR98_uc003kjt.2_Missense_Mutation_p.T415A|GPR98_uc003kjv.2_Missense_Mutation_p.T309A	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2709	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAGCTTTCAGACAGCTTCCAG	0.393													G	89992933	A	G	89992933	3	3	19	1	0	0	0	0	1	0	0	0	6721	275	10	3	8259	3	GPR98	5	89992933	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	13384	89992933	90922327	945	15244											
GPR98	84059	broad.mit.edu	37	chr5	90040924	90040924	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaattcggagcgtaaTcaattctcttttgttctgga	10	7	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:90040924T>A	uc003kju.2	+	51	10707	c.10611T>A	c.(10609-10611)AAT>AAA	p.N3537K	GPR98_uc003kjt.2_Missense_Mutation_p.N1243K|GPR98_uc003kjv.2_Missense_Mutation_p.N1137K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3537	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CGGAGCGTAATCAATTCTCTT	0.393													A	90040924	T	A	90040924	3	1	19	1	0	0	0	0	1	0	0	0	6721	1432	50	5	10813	5	GPR98	5	90040924	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	47991	90040924	90874336	946	15245											
GPR98	84059	broad.mit.edu	37	chr5	90041428	90041428	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggtgaactgatatttgAacctggtgagagagaagcta	12	5	1	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:90041428A>G	uc003kju.2	+	52	10886	c.10790A>G	c.(10789-10791)GAA>GGA	p.E3597G	GPR98_uc003kjt.2_Missense_Mutation_p.E1303G|GPR98_uc003kjv.2_Missense_Mutation_p.E1197G	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3597	Calx-beta 23.|Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTGATATTTGAACCTGGTGAG	0.313													G	90041428	A	G	90041428	3	3	19	1	0	0	0	0	1	0	0	0	6721	246	9	3	10996	3	GPR98	5	90041428	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	504	90041428	90873832	947	15246											
GPR98	84059	broad.mit.edu	37	chr5	90261245	90261245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacagattctgtttctggCgtctgcatacgcaagtcccc	8	13	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:90261245C>T	uc003kju.2	+	84	17966	c.17870C>T	c.(17869-17871)GCG>GTG	p.A5957V	GPR98_uc003kjt.2_Missense_Mutation_p.A3663V|GPR98_uc003kjw.2_Missense_Mutation_p.A1618V|GPR98_uc003kjx.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5957	Helical; (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTGTTTCTGGCGTCTGCATAC	0.383													T	90261245	C	T	90261245	3	4	19	1	0	0	0	0	1	0	0	0	6721	768	27	1	18204	1	GPR98	5	90261245	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	219817	90261245	90654015	948	15247											
ARRDC3	57561	broad.mit.edu	37	chr5	90678675	90678677	+	In_Frame_Del	DEL	CTT	CTT	-													tttatggttgaaatactctaCttcttcagtgtaattctgtg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:90678674_90678676ACTT>A	uc003kjz.2	-	0	474_476	c.234_236AAGT>T	c.(232-237)gaagta>gaTa	p.78_79EV>D	LOC100129716_uc003kka.4_Intron	NM_020801	NP_065852	Q96B67	ARRD3_HUMAN	Homo sapiens arrestin domain containing 3 (ARRDC3), mRNA.	78					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GAAATACTCTACTTCTTCAGTGT	0.374													-	90678677	CTT	-	90678675	7	5	19	1	0	1	0	1	0	0	0	0	984	565	20	0	1041	0	ARRDC3	5	90678675	In_Frame_Del	DEL	CTT	TCGA-BR-4361-01A-01D-1158-08	417430	90678675	90236585	949	15248											
FAM81B	153643	broad.mit.edu	37	chr5	94772530	94772530	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctcttaggaaagatagaAactgccagtcctgagcaaac	9	10	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:94772530A>G	uc003kla.1	+	7	859	c.813A>G	c.(811-813)GAA>GAG	p.E271E	FAM81B_uc010jbe.1_Silent_p.E67E	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	hypothetical protein LOC153643	271										ovary(1)|skin(1)	2		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GAAAGATAGAAACTGCCAGTC	0.388													G	94772530	A	G	94772530	2	3	19	1	0	0	0	0	0	0	0	1	5629	11	1	3		3	FAM81B	5	94772530	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	4093855	94772530	86142730	950	15249											
ELL2	22936	broad.mit.edu	37	chr5	95234064	95234064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttggtccttttccttatGttttttagacttctttttgg	6	6	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:95234064G>A	uc003klr.3	-	8	1755	c.1405C>T	c.(1405-1407)CAT>TAT	p.H469Y		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	469					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				central_nervous_system(1)	1		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TTTTCCTTATGTTTTTTAGAC	0.378													A	95234064	G	A	95234064	3	1	19	1	0	0	0	0	1	0	0	0	5063	1377	48	4	537	4	ELL2	5	95234064	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	461534	95234064	85681196	951	15250											
ELL2	22936	broad.mit.edu	37	chr5	95249542	95249542	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gattcctcctctgcctgggtCattctttctcgtgtcatctg	8	13	6	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:95249542C>T	uc003klr.3	-	4	764	c.414G>A	c.(412-414)ATG>ATA	p.M138I		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	138					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				central_nervous_system(1)	1		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CTGCCTGGGTCATTCTTTCTC	0.448													T	95249542	C	T	95249542	3	4	19	1	0	0	0	0	1	0	0	0	5063	826	29	4	1544	4	ELL2	5	95249542	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	15478	95249542	85665718	952	15251											
LNPEP	4012	broad.mit.edu	37	chr5	96322246	96322246	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccctttgcttgtagaagTcatcagtcgttctagatgat	8	9	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:96322246T>C	uc003kmv.1	+	4	1517	c.1003T>C	c.(1003-1005)TCA>CCA	p.S335P	LNPEP_uc003kmw.1_Missense_Mutation_p.S321P	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	335	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CTTGTAGAAGTCATCAGTCGT	0.368													C	96322246	T	C	96322246	3	2	19	1	0	0	0	0	1	0	0	0	8864	1667	58	3	1017	3	LNPEP	5	96322246	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1072704	96322246	84593014	953	15252											
LNPEP	4012	broad.mit.edu	37	chr5	96332172	96332172	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgccactttcatggagtatTtctctttggaaaaaatattc	6	7	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:96332172T>C	uc003kmv.1	+	7	2000	c.1486T>C	c.(1486-1488)TTC>CTC	p.F496L	LNPEP_uc003kmw.1_Missense_Mutation_p.F482L	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	496	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CATGGAGTATTTCTCTTTGGA	0.378													C	96332172	T	C	96332172	3	2	19	1	0	0	0	0	1	0	0	0	8864	1841	64	3	1512	3	LNPEP	5	96332172	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	9926	96332172	84583088	954	15253											
PPIP5K2	23262	broad.mit.edu	37	chr5	102508909	102508909	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagattgccaaaggctactgTactcctctggttagaaaaat	9	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:102508909T>C	uc003kod.3	+	20	2856	c.2337T>C	c.(2335-2337)TGT>TGC	p.C779C	PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Silent_p.C779C|PPIP5K2_uc003kof.2_Silent_p.C80C	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	779					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)|skin(1)	2						AAGGCTACTGTACTCCTCTGG	0.353													C	102508909	T	C	102508909	2	2	19	1	0	0	0	0	0	0	0	1	12333	1644	57	3		3	PPIP5K2	5	102508909	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	6176737	102508909	78406351	955	15254											
MAN2A1	4124	broad.mit.edu	37	chr5	109103388	109103389	+	Frame_Shift_Ins	INS	-	-	T													actgcataaaacattggagtINSttttttggagacagaattgg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:109103387_109103388G>GT	uc003kou.1	+	5	1950_1951	c.987_988G>GT	c.(985-990)gagtttfs	p.E329fs		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	329					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.L328L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AAACATTGGAGTTTTTTTGGAG	0.396													T	109103389	-	T	109103388	7	5	19	1	0	1	1	0	0	0	0	0	9214	1725	60	0	1010	0	MAN2A1	5	109103388	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	6594479	109103388	71811872	956	15255											
CAMK4	814	broad.mit.edu	37	chr5	110710600	110710600	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttcttcttcgcctctcacAtccaaacattgtaagtggtt	6	11	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:110710600A>G	uc011cvj.1	+	4	392	c.293A>G	c.(292-294)CAT>CGT	p.H98R	CAMK4_uc003kpf.2_Missense_Mutation_p.H98R|CAMK4_uc010jbv.2_Intron	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	98	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CGCCTCTCACATCCAAACATT	0.388													G	110710600	A	G	110710600	3	3	19	1	0	0	0	0	1	0	0	0	2605	217	8	3	303	3	CAMK4	5	110710600	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1607212	110710600	70204660	957	15256											
APC	324	broad.mit.edu	37	chr5	112176653	112176653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatactgaatataggacaCgtgtaagaaaaaatgcagac	8	5	0	3	rs140073303		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:112176653C>T	uc010jby.2	+	16	5742	c.5362C>T	c.(5362-5364)CGT>TGT	p.R1788C	APC_uc011cvt.1_Missense_Mutation_p.R1770C|APC_uc003kpz.3_Missense_Mutation_p.R1788C|APC_uc003kpy.3_Missense_Mutation_p.R1788C|APC_uc010jbz.2_Missense_Mutation_p.R1505C|APC_uc010jca.2_Missense_Mutation_p.R1088C	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1788	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATATAGGACACGTGTAAGAAA	0.318		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			T	112176653	C	T	112176653	3	4	19	1	0	0	0	0	1	0	0	0	763	536	19	1	5420	1	APC	5	112176653	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1466053	112176653	68738607	958	15257											
FTMT	94033	broad.mit.edu	37	chr5	121187847	121187847	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccctaccgggcccgccgcCggcccctctcgggtgcgcca	13	21	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:121187847C>T	uc003kss.2	+	1	198	c.189C>T	c.(187-189)GCC>GCT	p.A63A		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial precursor	63					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			ovary(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGCCCGCCGCCGGCCCCTCTC	0.726													T	121187847	C	T	121187847	2	4	19	1	0	0	0	0	0	0	0	1	6085	639	23	1		1	FTMT	5	121187847	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	9011194	121187847	59727413	959	15258											
PPIC	5480	broad.mit.edu	37	chr5	122365031	122365031	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagagcaacaaaattttccActgtcttgggcacaactttt	6	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:122365031A>G	uc003kth.2	-	2	305	c.200T>C	c.(199-201)GTG>GCG	p.V67A	PPIC_uc011cwp.1_Missense_Mutation_p.V67A	NM_000943	NP_000934	P45877	PPIC_HUMAN	peptidylprolyl isomerase C	67	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			ovary(1)	1		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	AAAATTTTCCACTGTCTTGGG	0.388													G	122365031	A	G	122365031	3	3	19	1	0	0	0	0	1	0	0	0	12320	159	6	3	454	3	PPIC	5	122365031	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1177184	122365031	58550229	960	15259											
CEP120	153241	broad.mit.edu	37	chr5	122708465	122708465	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttattttcagcatcattaAgctgtattaaaaaaagttta	4	5	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:122708465A>G	uc003ktk.2	-	18	2442	c.2360T>C	c.(2359-2361)CTT>CCT	p.L787P	CEP120_uc011cwq.1_Missense_Mutation_p.L596P	NM_153223	NP_694955	Q8N960	CE120_HUMAN	coiled-coil domain containing 100	787	Potential.					centrosome				ovary(1)	1						AGCATCATTAAGCTGTATTAA	0.289													G	122708465	A	G	122708465	3	3	19	1	0	0	0	0	1	0	0	0	3246	86	3	3	616	3	CEP120	5	122708465	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	343434	122708465	58206795	961	15260											
CEP120	153241	broad.mit.edu	37	chr5	122729096	122729096	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtttgggttgattaaatcAttgaagggttcatttgtaac	10	3	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:122729096A>G	uc003ktk.2	-	7	790	c.708T>C	c.(706-708)AAT>AAC	p.N236N	CEP120_uc011cwq.1_Silent_p.N45N|CEP120_uc010jcz.1_Silent_p.N210N	NM_153223	NP_694955	Q8N960	CE120_HUMAN	coiled-coil domain containing 100	236						centrosome				ovary(1)	1						TGATTAAATCATTGAAGGGTT	0.388													G	122729096	A	G	122729096	2	3	19	1	0	0	0	0	0	0	0	1	3246	214	8	3		3	CEP120	5	122729096	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	20631	122729096	58186164	962	15261											
ZNF608	57507	broad.mit.edu	37	chr5	123984436	123984436	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgattaacactggagaagaGcagccttggtccaaaaaagt	10	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:123984436G>A	uc003ktq.1	-	4	1764	c.1641C>T	c.(1639-1641)TGC>TGT	p.C547C	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Silent_p.C547C|ZNF608_uc003ktt.1_Silent_p.C547C	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	547						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTGGAGAAGAGCAGCCTTGGT	0.502													A	123984436	G	A	123984436	2	1	19	1	0	0	0	0	0	0	0	1	18031	963	34	2		2	ZNF608	5	123984436	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1255340	123984436	56930824	963	15262											
PHAX	51808	broad.mit.edu	37	chr5	125936659	125936659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcaccgcgggaagatggCgttggaggtcggcgatatgg	19	8	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:125936659C>T	uc003kua.1	+	1	27	c.5C>T	c.(4-6)GCG>GTG	p.A2V		NM_032177	NP_115553	Q9H814	PHAX_HUMAN	RNA U, small nuclear RNA export adaptor	2	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding				0						GGGAAGATGGCGTTGGAGGTC	0.692													T	125936659	C	T	125936659	3	4	19	1	0	0	0	0	1	0	0	0	11813	768	27	1	7	1	PHAX	5	125936659	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1952223	125936659	54978601	964	15263											
PRRC1	133619	broad.mit.edu	37	chr5	126860489	126860489	+	Frame_Shift_Del	DEL	C	C	-													caaacactcttttacctgcaCccccttcgggtcctcctata					rs149336967		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:126860489delC	uc003kuk.2	+	3	550	c.370delC	c.(370-372)CCCfs	p.P124fs	PRRC1_uc003kuj.3_Frame_Shift_Del_p.P124fs	NM_130809	NP_570721	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	124	Pro-rich.					Golgi apparatus					0		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		TTTACCTGCACCCCCTTCGGG	0.517													-	126860489	C	-	126860489	7	5	19	1	0	1	0	1	0	0	0	0	12604	507	18	0	376	0	PRRC1	5	126860489	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	923830	126860489	54054771	965	15264											
SLC12A2	6558	broad.mit.edu	37	chr5	127486967	127486967	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttcaaatactacaacatgtgGatatcacttcttggagcaat	6	8	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:127486967G>C	uc003kus.2	+	14	2306	c.2142G>C	c.(2140-2142)TGG>TGC	p.W714C	SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.W714C	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	714	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	p.W714C(1)		ovary(3)	3		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACAACATGTGGATATCACTTC	0.363													C	127486967	G	C	127486967	3	2	19	1	0	0	0	0	1	0	0	0	14383	1183	41	5	2196	5	SLC12A2	5	127486967	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	626478	127486967	53428293	966	15265											
FBN2	2201	broad.mit.edu	37	chr5	127686661	127686661	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tattcacctcacagcggctgTcctggatgttgagccaacag	10	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:127686661T>A	uc003kuu.2	-	21	3150	c.2711A>T	c.(2710-2712)GAC>GTC	p.D904V	FBN2_uc003kuv.2_Missense_Mutation_p.D871V	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	904	TB 4.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACAGCGGCTGTCCTGGATGTT	0.527													A	127686661	T	A	127686661	3	1	19	1	0	0	0	0	1	0	0	0	5703	1667	58	5	6207	5	FBN2	5	127686661	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	199694	127686661	53228599	967	15266											
CHSY3	337876	broad.mit.edu	37	chr5	129241153	129241153	+	Frame_Shift_Del	DEL	C	C	-													agttcttttccagccagcagCcccccaacgccggccagccc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:129241153delC	uc003kvd.2	+	1	631	c.631delC	c.(631-633)CCCfs	p.P211fs		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	211	Lumenal (Potential).|Pro-rich.					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAGCCAGCAGCCCCCCAACGC	0.667													-	129241153	C	-	129241153	7	5	19	1	0	1	0	1	0	0	0	0	3413	739	26	0	633	0	CHSY3	5	129241153	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	1554492	129241153	51674107	968	15267											
FNIP1	96459	broad.mit.edu	37	chr5	131008113	131008113	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caactgtctctaacttggcgTcaaagcaagttcttaattta	6	9	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:131008113T>A	uc003kvs.1	-	14	2166	c.2024A>T	c.(2023-2025)GAC>GTC	p.D675V	RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.D647V|FNIP1_uc010jdm.1_Missense_Mutation_p.D630V	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1 isoform 1	675					regulation of protein phosphorylation	cytoplasm	protein binding			pancreas(1)|skin(1)	2		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TAACTTGGCGTCAAAGCAAGT	0.413													A	131008113	T	A	131008113	3	1	19	1	0	0	0	0	1	0	0	0	5975	1667	58	5	1496	5	FNIP1	5	131008113	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1766960	131008113	49907147	969	15268											
DDX46	9879	broad.mit.edu	37	chr5	134099624	134099624	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacgatcggcatcccggggTcgctctggaagtcggtctag	14	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:134099624T>C	uc003kzw.2	+	2	216	c.48T>C	c.(46-48)GGT>GGC	p.G16G	DDX46_uc003kzv.1_RNA	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	16	Arg-rich.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CATCCCGGGGTCGCTCTGGAA	0.423													C	134099624	T	C	134099624	2	2	19	1	0	0	0	0	0	0	0	1	4364	1654	58	3		3	DDX46	5	134099624	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	3091511	134099624	46815636	970	15269											
TXNDC15	79770	broad.mit.edu	37	chr5	134235275	134235275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggactggttgcttgtatTttccttattctttttaatta	7	5	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:134235275T>C	uc003lac.1	+	5	1641	c.983T>C	c.(982-984)TTT>TCT	p.F328S	TXNDC15_uc010jdy.1_RNA|TXNDC15_uc011cxv.1_RNA	NM_024715	NP_078991	Q96J42	TXD15_HUMAN	disulfide isomerase precursor	328	Helical; (Potential).				cell redox homeostasis	integral to membrane				ovary(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGCTTGTATTTTCCTTATTC	0.408													C	134235275	T	C	134235275	3	2	19	1	0	0	0	0	1	0	0	0	16791	1841	64	3	1001	3	TXNDC15	5	134235275	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	135651	134235275	46679985	971	15270											
H2AFY	9555	broad.mit.edu	37	chr5	134724776	134724776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcttcttcccaccgcggCtcgacatggcggtggccctg	11	16	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:134724776C>T	uc003lam.1	-	2	218	c.8G>A	c.(7-9)AGC>AAC	p.S3N	H2AFY_uc003lao.1_Missense_Mutation_p.S3N|H2AFY_uc003lan.1_Missense_Mutation_p.S3N|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Missense_Mutation_p.S3N|H2AFY_uc003las.1_Missense_Mutation_p.S3N|H2AFY_uc003lat.1_Missense_Mutation_p.S3N	NM_138610	NP_613258	O75367	H2AY_HUMAN	H2A histone family, member Y isoform 3	3	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCCACCGCGGCTCGACATGGC	0.617													T	134724776	C	T	134724776	3	4	19	1	0	0	0	0	1	0	0	0	6929	797	28	2	1237	2	H2AFY	5	134724776	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	489501	134724776	46190484	972	15271											
BRD8	10902	broad.mit.edu	37	chr5	137498869	137498869	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagtctgccagtgtgtgtgaCtgcagtgtagcattgtgtat	14	6	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:137498869C>G	uc003lcf.1	-	15	2092	c.2037G>C	c.(2035-2037)CAG>CAC	p.Q679H	BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Missense_Mutation_p.Q458H|BRD8_uc003lcg.2_Missense_Mutation_p.Q752H|BRD8_uc003lci.2_Missense_Mutation_p.Q682H|BRD8_uc003lch.2_Missense_Mutation_p.Q573H|BRD8_uc011cym.1_Missense_Mutation_p.Q663H|BRD8_uc010jer.1_Missense_Mutation_p.Q648H|BRD8_uc011cyn.1_Missense_Mutation_p.Q638H	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	679					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTGTGTGTGACTGCAGTGTAG	0.493													G	137498869	C	G	137498869	3	3	19	1	0	0	0	0	1	0	0	0	1506	564	20	5	1786	5	BRD8	5	137498869	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2774093	137498869	43416391	973	15272											
CDC25C	995	broad.mit.edu	37	chr5	137627690	137627690	+	Frame_Shift_Del	DEL	T	T	-													ttccttggccagaaaaatacTtttttttaactttatctggt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:137627689_137627689CT>C	uc003lcs.1	-	7	1166	c.966_966AG>G	c.(964-966)aagfs	p.K322fs	CDC25C_uc003lcp.1_Frame_Shift_Del_p.K244fs|CDC25C_uc003lcq.1_Frame_Shift_Del_p.K171fs|CDC25C_uc003lcr.1_Frame_Shift_Del_p.K244fs|CDC25C_uc011cyp.1_Frame_Shift_Del_p.K261fs	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	244	Rhodanese.				DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGAAAAATACTTTTTTTTAA	0.383													-	137627690	T	-	137627690	7	5	19	1	0	1	0	1	0	0	0	0	3064	1609	56	0	718	0	CDC25C	5	137627690	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	128821	137627690	43287570	974	15273											
HSPA9	3313	broad.mit.edu	37	chr5	137892147	137892147	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcccttgtacctttttGtatgccatttcgaacagctt	6	11	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:137892147G>A	uc003ldf.2	-	16	2064	c.1956C>T	c.(1954-1956)TAC>TAT	p.Y652Y	HSPA9_uc003lde.2_Silent_p.Y69Y	NM_004134	NP_004125	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 precursor	652					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTACCTTTTTGTATGCCATTT	0.463													A	137892147	G	A	137892147	2	1	19	1	0	0	0	0	0	0	0	1	7417	1372	48	4		4	HSPA9	5	137892147	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	264457	137892147	43023113	975	15274											
HSPA9	3313	broad.mit.edu	37	chr5	137895576	137895576	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcttcttggttggaatagTggtattcctattaataagtt	9	5	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:137895576T>C	uc003ldf.2	-	11	1495	c.1387A>G	c.(1387-1389)ACT>GCT	p.T463A	HSPA9_uc003lde.2_5'Flank|HSPA9_uc011cyw.1_Missense_Mutation_p.T394A	NM_004134	NP_004125	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 precursor	463					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTTGGAATAGTGGTATTCCTA	0.458													C	137895576	T	C	137895576	3	2	19	1	0	0	0	0	1	0	0	0	7417	1696	59	3	680	3	HSPA9	5	137895576	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	3429	137895576	43019684	976	15275											
PCDHA4	56144	broad.mit.edu	37	chr5	140188485	140188485	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctagcgcctcgggcgggTggcactggtggcgcagtgag	19	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140188485T>C	uc003lhi.2	+	1	1814	c.1713T>C	c.(1711-1713)GGT>GGC	p.G571G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.G571G|PCDHA4_uc011daa.1_Silent_p.G571G	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	571	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGGGCGGGTGGCACTGGTG	0.677													C	140188485	T	C	140188485	2	2	19	1	0	0	0	0	0	0	0	1	11526	1683	59	3		3	PCDHA4	5	140188485	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2292909	140188485	40726775	977	15276											
PCDHA6	56142	broad.mit.edu	37	chr5	140209434	140209434	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgccgcggtcactgggTgcaggccaagtggtggcgaa	18	10	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140209434T>C	uc003lho.2	+	1	1785	c.1758T>C	c.(1756-1758)GGT>GGC	p.G586G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.G586G	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	586	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCACTGGGTGCAGGCCAAG	0.672													C	140209434	T	C	140209434	2	2	19	1	0	0	0	0	0	0	0	1	11528	1683	59	3		3	PCDHA6	5	140209434	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	20949	140209434	40705826	978	15277											
PCDHA7	56141	broad.mit.edu	37	chr5	140216142	140216142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggcgttgcggtgctcagCgccgtcctctgagggcgcat	15	14	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140216142C>T	uc003lhq.2	+	1	2174	c.2174C>T	c.(2173-2175)GCG>GTG	p.A725V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A725V	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	725	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGCTCAGCGCCGTCCTCT	0.617													T	140216142	C	T	140216142	3	4	19	1	0	0	0	0	1	0	0	0	11529	768	27	1	2176	1	PCDHA7	5	140216142	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	6708	140216142	40699118	979	15278											
PCDHA8	56140	broad.mit.edu	37	chr5	140221050	140221050	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcaccttcgtgggccggatCgcgcaggacctggggctgga	18	12	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140221050C>T	uc003lhs.2	+	1	144	c.144C>T	c.(142-144)ATC>ATT	p.I48I	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.I48I	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	48	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCCGGATCGCGCAGGACC	0.657													T	140221050	C	T	140221050	2	4	19	1	0	0	0	0	0	0	0	1	11530	874	31	1		1	PCDHA8	5	140221050	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	4908	140221050	40694210	980	15279											
PCDHAC2	56134	broad.mit.edu	37	chr5	140255609	140255609	+	Frame_Shift_Del	DEL	A	A	-													tttgagcttaaaataaaaacAaaaaaagataaaagtatatt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140255608_140255608CA>C	uc003lic.2	+	0	678	c.551_551CA>C	c.(550-552)acafs	p.T184fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Frame_Shift_Del_p.T184fs	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	199	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.Q183H(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAATAAAAACAAAAAAAGAT	0.368													-	140255609	A	-	140255609	7	5	19	1	0	1	0	1	0	0	0	0	11533	117	5	0		0	PCDHAC2	5	140255609	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	34559	140255609	40659651	981	15280											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308328	140308328	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcagccaatataggtgaGctccgtactgctcgcttagt	9	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140308328G>A	uc003lih.2	+	1	2027	c.1851G>A	c.(1849-1851)GAG>GAA	p.E617E	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Silent_p.E617E	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	617	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATAGGTGAGCTCCGTACTG	0.517													A	140308328	G	A	140308328	2	1	19	1	0	0	0	0	0	0	0	1	11532	962	34	2		2	PCDHAC1	5	140308328	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	52719	140308328	40606932	982	15281											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308672	140308672	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggtatggaagtaagatggTttcaaatccttgcatgacat	11	5	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140308672T>C	uc003lih.2	+	1	2371	c.2195T>C	c.(2194-2196)GTT>GCT	p.V732A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.V732A	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	732	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTAAGATGGTTTCAAATCCT	0.478													C	140308672	T	C	140308672	3	2	19	1	0	0	0	0	1	0	0	0	11532	1725	60	3	2197	3	PCDHAC1	5	140308672	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	344	140308672	40606588	983	15282											
PCDHB1	29930	broad.mit.edu	37	chr5	140431696	140431696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcaacttgacaattacggCggtggacggcgggtccccgc	14	12	1	1	rs144200490	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140431696C>T	uc003lik.1	+	1	718	c.641C>T	c.(640-642)GCG>GTG	p.A214V		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	214	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAATTACGGCGGTGGACGGC	0.597													T	140431696	C	T	140431696	3	4	19	1	0	0	0	0	1	0	0	0	11534	768	27	1	643	1	PCDHB1	5	140431696	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	123024	140431696	40483564	984	15283											
PCDHB2	56133	broad.mit.edu	37	chr5	140475265	140475265	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaaacgtttcgattaagTgcaaaatcgggagaactgct	10	8	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140475265T>C	uc003lil.2	+	1	1029	c.891T>C	c.(889-891)AGT>AGC	p.S297S	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	297	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGATTAAGTGCAAAATCGG	0.423													C	140475265	T	C	140475265	2	2	19	1	0	0	0	0	0	0	0	1	11542	1693	59	3		3	PCDHB2	5	140475265	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	43569	140475265	40439995	985	15284											
PCDHB8	56128	broad.mit.edu	37	chr5	140558614	140558614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttttctggaaaatgcacCgttctgattcaagtgataga	10	7	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140558614C>T	uc011dai.1	+	1	1185	c.999C>T	c.(997-999)ACC>ACT	p.T333T	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	333	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAAATGCACCGTTCTGATTC	0.433													T	140558614	C	T	140558614	2	4	19	1	0	0	0	0	0	0	0	1	11548	639	23	1		1	PCDHB8	5	140558614	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	83349	140558614	40356646	986	15285											
PCDHB11	56125	broad.mit.edu	37	chr5	140580953	140580953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcgtgggcgccacagacCgcggctccccggctttgagc	14	17	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140580953C>T	uc003liy.2	+	1	1606	c.1606C>T	c.(1606-1608)CGC>TGC	p.R536C	PCDHB11_uc011daj.1_Missense_Mutation_p.R171C	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	536	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCACAGACCGCGGCTCCCC	0.667													T	140580953	C	T	140580953	3	4	19	1	0	0	0	0	1	0	0	0	11536	652	23	1	1608	1	PCDHB11	5	140580953	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	22339	140580953	40334307	987	15286											
PCDHB14	56122	broad.mit.edu	37	chr5	140603462	140603462	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgtcaaagacataaatgatCactcccctacatttctagac	5	11	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140603462C>T	uc003ljb.2	+	1	385	c.385C>T	c.(385-387)CAC>TAC	p.H129Y	PCDHB14_uc011dal.1_Intron	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	129	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.H129L(1)		ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATAAATGATCACTCCCCTAC	0.418													T	140603462	C	T	140603462	3	4	19	1	0	0	0	0	1	0	0	0	11539	826	29	4	387	4	PCDHB14	5	140603462	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	22509	140603462	40311798	988	15287											
PCDHB15	56121	broad.mit.edu	37	chr5	140626780	140626780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcgctgagcagcgaggCgctggtgcgagtgctggtgc	19	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140626780C>T	uc003lje.2	+	1	1634	c.1634C>T	c.(1633-1635)GCG>GTG	p.A545V		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	545	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCAGCGAGGCGCTGGTGCGA	0.697													T	140626780	C	T	140626780	3	4	19	1	0	0	0	0	1	0	0	0	11540	768	27	1	1636	1	PCDHB15	5	140626780	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	23318	140626780	40288480	989	15288											
PCDHGB3	56102	broad.mit.edu	37	chr5	140750900	140750900	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctggactttgaagagagagaTagctacacaattggggtgga	14	5	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140750900T>A	uc003ljw.1	+	1	939	c.939T>A	c.(937-939)GAT>GAA	p.D313E	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.D313E|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	313	Extracellular (Potential).|Cadherin 3.				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)			AAGAGAGAGATAGCTACACAA	0.433													A	140750900	T	A	140750900	3	1	19	1	0	0	0	0	1	0	0	0	11564	1403	49	5	941	5	PCDHGB3	5	140750900	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	124120	140750900	40164360	990	15289											
PCDHGA6	56109	broad.mit.edu	37	chr5	140754314	140754314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatggcggcgaccctgtcCgctcaagcgtcgcccaaatt	12	14	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140754314C>T	uc003ljy.1	+	1	664	c.664C>T	c.(664-666)CGC>TGC	p.R222C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.R222C	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	222	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACCCTGTCCGCTCAAGCGT	0.552													T	140754314	C	T	140754314	3	4	19	1	0	0	0	0	1	0	0	0	11558	652	23	1	666	1	PCDHGA6	5	140754314	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3414	140754314	40160946	991	15290											
PCDHGA7	56108	broad.mit.edu	37	chr5	140762574	140762574	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtattctctactccgtgtcGgaggagacggacaaagggtc	13	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140762574G>A	uc003lka.1	+	1	108	c.108G>A	c.(106-108)TCG>TCA	p.S36S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Silent_p.S36S	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	36	Cadherin 1.|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)			ACTCCGTGTCGGAGGAGACGG	0.647													A	140762574	G	A	140762574	2	1	19	1	0	0	0	0	0	0	0	1	11559	1103	39	1		1	PCDHGA7	5	140762574	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	8260	140762574	40152686	992	15291											
PCDHGA7	56108	broad.mit.edu	37	chr5	140763137	140763137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgacccgccccgatccaGcaccgcccacatccaggtga	10	20	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140763137G>A	uc003lka.1	+	1	671	c.671G>A	c.(670-672)AGC>AAC	p.S224N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.S224N	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	224	Extracellular (Potential).|Cadherin 2.				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)			CCCCGATCCAGCACCGCCCAC	0.622													A	140763137	G	A	140763137	3	1	19	1	0	0	0	0	1	0	0	0	11559	971	34	2	673	2	PCDHGA7	5	140763137	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	563	140763137	40152123	993	15292											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769136	140769136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgcgccacgggtgctgtAccccgcgctgggtcccgacg	14	16	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140769136A>G	uc003lkc.1	+	1	1685	c.1685A>G	c.(1684-1686)TAC>TGC	p.Y562C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.Y562C	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	562	Extracellular (Potential).				calcium-dependent cell-cell adhesion|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)			CGGGTGCTGTACCCCGCGCTG	0.672													G	140769136	A	G	140769136	3	3	19	1	0	0	0	0	1	0	0	0	11565	391	14	3	1687	3	PCDHGB4	5	140769136	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	5999	140769136	40146124	994	15293											
PCDHGA8	9708	broad.mit.edu	37	chr5	140772809	140772809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctagaagtaaaaattaaCgaaatcgcggttcctggagc	10	7	1	1	rs151037104	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140772809C>T	uc003lkd.1	+	1	1327	c.429C>T	c.(427-429)AAC>AAT	p.N143N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Silent_p.N143N	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	143	Extracellular (Potential).|Cadherin 2.				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)			TAAAAATTAACGAAATCGCGG	0.443													T	140772809	C	T	140772809	2	4	19	1	0	0	0	0	0	0	0	1	11560	535	19	1		1	PCDHGA8	5	140772809	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3673	140772809	40142451	995	15294											
PCDHGB7	56099	broad.mit.edu	37	chr5	140797939	140797939	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aattcgctgagcaaataccaActaagtcctaacgagtattt	6	9	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140797939A>C	uc003lkn.1	+	1	658	c.513A>C	c.(511-513)CAA>CAC	p.Q171H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.Q171H|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	171	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAATACCAACTAAGTCCTA	0.418													C	140797939	A	C	140797939	3	2	19	1	0	0	0	0	1	0	0	0	11568	40	2	5	515	5	PCDHGB7	5	140797939	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	25130	140797939	40117321	996	15295											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811036	140811036	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggttctggatgcgaacgAcaacgcaccagcgtttgctc	12	11	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140811036A>G	uc003lkt.1	+	1	879	c.710A>G	c.(709-711)GAC>GGC	p.D237G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.D237G	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	237	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGCGAACGACAACGCACCA	0.652													G	140811036	A	G	140811036	3	3	19	1	0	0	0	0	1	0	0	0	11553	275	10	3	712	3	PCDHGA12	5	140811036	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	13097	140811036	40104224	997	15296											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811779	140811779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccgactgtgaagagaacGcccagatcacttattccctg	8	14	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140811779G>A	uc003lkt.1	+	1	1622	c.1453G>A	c.(1453-1455)GCC>ACC	p.A485T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.A485T	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	485	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGAGAACGCCCAGATCAC	0.557													A	140811779	G	A	140811779	3	1	19	1	0	0	0	0	1	0	0	0	11553	1087	38	1	1455	1	PCDHGA12	5	140811779	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	743	140811779	40103481	998	15297											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812627	140812627	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acggactcgcggaagagtcaCctgatcttcccccagcccaa	9	16	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140812627C>G	uc003lkt.1	+	1	2470	c.2301C>G	c.(2299-2301)CAC>CAG	p.H767Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.H767Q	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	767	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGAGTCACCTGATCTTCC	0.572													G	140812627	C	G	140812627	3	3	19	1	0	0	0	0	1	0	0	0	11553	506	18	5	2303	5	PCDHGA12	5	140812627	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	848	140812627	40102633	999	15298											
PCDHGC4	56098	broad.mit.edu	37	chr5	140867053	140867053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggaggccactctcatggCtgtacacccttggcttctgc	12	13	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140867053C>T	uc003lky.1	+	1	2313	c.2313C>T	c.(2311-2313)GGC>GGT	p.G771G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Silent_p.G771G|PCDHGC5_uc011dbc.1_5'Flank|PCDHGC5_uc003lla.1_5'Flank	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	771	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTCATGGCTGTACACCCT	0.572													T	140867053	C	T	140867053	2	4	19	1	0	0	0	0	0	0	0	1	11570	784	28	2		2	PCDHGC4	5	140867053	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	54426	140867053	40048207	1000	15299											
FCHSD1	89848	broad.mit.edu	37	chr5	141021298	141021298	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgaggtgccatcatgtccaGgaacccagggaagtccaggg	14	11	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:141021298G>T	uc003llk.2	-	19	2029	c.1978C>A	c.(1978-1980)CTG>ATG	p.L660M	FCHSD1_uc010jgg.2_Missense_Mutation_p.L343M|FCHSD1_uc003llj.2_RNA	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	660	Pro-rich.								FCHSD1/BRAF(2)	skin(2)|ovary(1)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCATGTCCAGGAACCCAGGG	0.418													T	141021298	G	T	141021298	3	4	19	1	0	0	0	0	1	0	0	0	5789	991	35	5	102	5	FCHSD1	5	141021298	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	154245	141021298	39893962	1001	15300											
ARAP3	64411	broad.mit.edu	37	chr5	141035786	141035786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggctttaacttcttgcGgattcccaggtagaccttgg	13	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:141035786G>A	uc003llm.2	-	28	3925	c.3847C>T	c.(3847-3849)CGC>TGC	p.R1283C	ARAP3_uc003lll.2_Missense_Mutation_p.R234C|ARAP3_uc011dbe.1_Missense_Mutation_p.R945C|ARAP3_uc003lln.2_Missense_Mutation_p.R1114C	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1283	PH 3.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7						AACTTCTTGCGGATTCCCAGG	0.557													A	141035786	G	A	141035786	3	1	19	1	0	0	0	0	1	0	0	0	840	1116	39	1	811	1	ARAP3	5	141035786	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	14488	141035786	39879474	1002	15301											
HMHB1	57824	broad.mit.edu	37	chr5	143200049	143200049	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattcttttctataggttcTctgcatgtttggaagtcgga	9	8	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:143200049T>C	uc003lnj.2	+	2	149	c.42T>C	c.(40-42)TCT>TCC	p.S14S		NM_021182	NP_067005	O97980	HMHB1_HUMAN	minor histocompatibility antigen HB-1	14	Loss of recognition by cytotoxic T lymphocyte (CTL).			S->A: Complete loss of CTL recognition.							0		Acute lymphoblastic leukemia(2;0.0236)|all_hematologic(2;0.041)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CTATAGGTTCTCTGCATGTTT	0.393													C	143200049	T	C	143200049	2	2	19	1	0	0	0	0	0	0	0	1	7241	1538	54	3		3	HMHB1	5	143200049	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2164263	143200049	37715211	1003	15302											
SH3RF2	153769	broad.mit.edu	37	chr5	145442254	145442254	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcacgcagaccgtgtttcCcagcaaatgaacctacgggt	11	12	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:145442254C>A	uc003lnt.2	+	10	2418	c.2180C>A	c.(2179-2181)CCC>CAC	p.P727H	SH3RF2_uc011dbl.1_Missense_Mutation_p.P727H|SH3RF2_uc003lnu.2_Missense_Mutation_p.P218H|SH3RF2_uc011dbn.1_Missense_Mutation_p.P218H|SH3RF2_uc011dbo.1_Missense_Mutation_p.P184H	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	727							ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCGTGTTTCCCAGCAAATGA	0.557													A	145442254	C	A	145442254	3	1	19	1	0	0	0	0	1	0	0	0	14259	623	22	5	2214	5	SH3RF2	5	145442254	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2242205	145442254	35473006	1004	15303											
RBM27	54439	broad.mit.edu	37	chr5	145613207	145613207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgggcccaggtccaggcCcaggcccgggcccaggtcca	15	19	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:145613207C>T	uc003lnz.3	+	7	1211	c.1045C>T	c.(1045-1047)CCA>TCA	p.P349S	RBM27_uc003lny.2_Missense_Mutation_p.P349S	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	349	Pro-rich.				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			central_nervous_system(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			aggtccaggcccaggcccggg	0.393													T	145613207	C	T	145613207	3	4	19	1	0	0	0	0	1	0	0	0	13127	623	22	4	1071	4	RBM27	5	145613207	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	170953	145613207	35302053	1005	15304											
GPR151	134391	broad.mit.edu	37	chr5	145894652	145894652	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaggaagaccctctgagTtgccagctggtgtttcctga	12	10	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:145894652T>C	uc003lod.1	-	1	1025	c.1025A>G	c.(1024-1026)AAC>AGC	p.N342S		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	342	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCCTCTGAGTTGCCAGCTGG	0.483													C	145894652	T	C	145894652	3	2	19	1	0	0	0	0	1	0	0	0	6657	1725	60	3	238	3	GPR151	5	145894652	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	281445	145894652	35020608	1006	15305											
DPYSL3	1809	broad.mit.edu	37	chr5	146775201	146775201	+	Frame_Shift_Del	DEL	G	G	-													gagccccgagcagagcctgcGggggtgccacctttgggggt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:146775201delG	uc003lon.1	-	13	1655	c.1545delC	c.(1543-1545)CCCfs	p.P515fs	DPYSL3_uc003loo.2_Frame_Shift_Del_p.P629fs	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	515					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGCCTGCGGGGGTGCCAC	0.607													-	146775201	G	-	146775201	7	5	19	1	0	1	0	1	0	0	0	0	4748	1103	39	0	175	0	DPYSL3	5	146775201	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	880549	146775201	34140059	1007	15306											
JAKMIP2	9832	broad.mit.edu	37	chr5	147024501	147024501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgtttctcttggcgaggCacttgttcctttccaggaga	10	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:147024501C>T	uc003loq.1	-	6	1377	c.995G>A	c.(994-996)TGC>TAC	p.C332Y	JAKMIP2_uc011dbx.1_Missense_Mutation_p.C290Y|JAKMIP2_uc003lor.1_Missense_Mutation_p.C332Y|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.C332Y	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	332	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGGCGAGGCACTTGTTCCT	0.443													T	147024501	C	T	147024501	3	4	19	1	0	0	0	0	1	0	0	0	7941	710	25	2	1501	2	JAKMIP2	5	147024501	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	249300	147024501	33890759	1008	15307											
FBXO38	81545	broad.mit.edu	37	chr5	147818027	147818027	+	Frame_Shift_Del	DEL	G	G	-													actaagaatgccacccgagaGaaaccgcatcatatacctac							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:147818026_147818026AG>A	uc003lpf.1	+	17	3109	c.2989_2989AG>A	c.(2989-2991)agafs	p.R997fs	FBXO38_uc003lpg.1_Frame_Shift_Del_p.R922fs|FBXO38_uc003lph.2_Frame_Shift_Del_p.R752fs	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	997						cytoplasm|nucleus		p.E996K(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACCCGAGAGAAACCGCAT	0.413													-	147818027	G	-	147818027	7	5	19	1	0	1	0	1	0	0	0	0	5746	942	33	0	3056	0	FBXO38	5	147818027	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	793526	147818027	33097233	1009	15308											
SH3TC2	79628	broad.mit.edu	37	chr5	148406227	148406227	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgctgagccagggccagCcagtgctcatggtaggtgat	15	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:148406227C>T	uc003lpu.2	-	12	3113	c.2961G>A	c.(2959-2961)TGG>TGA	p.W987*	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Nonsense_Mutation_p.W631*|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Nonsense_Mutation_p.W534*|SH3TC2_uc010jgx.2_Nonsense_Mutation_p.W980*|SH3TC2_uc003lpv.1_Missense_Mutation_p.G570D|SH3TC2_uc011dbz.1_Missense_Mutation_p.G908D	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	987							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGGCCAGCCAGTGCTCAT	0.572													T	148406227	C	T	148406227	4	4	19	1	0	0	0	0	0	1	0	0	14262	740	26	2	929	2	SH3TC2	5	148406227	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	588200	148406227	32509033	1010	15309											
PDE6A	5145	broad.mit.edu	37	chr5	149265935	149265935	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtagcgcttcagctttccCgtctggaagggcaatcagag	12	10	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:149265935C>T	uc003lrg.3	-	14	1851	c.1731G>A	c.(1729-1731)ACG>ACA	p.T577T		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A	577					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCAGCTTTCCCGTCTGGAAGG	0.527													T	149265935	C	T	149265935	2	4	19	1	0	0	0	0	0	0	0	1	11645	639	23	1		1	PDE6A	5	149265935	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	859708	149265935	31649325	1011	15310											
PDGFRB	5159	broad.mit.edu	37	chr5	149513540	149513540	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggcggaccacagtctgCactgcgttcacagagacgtt	11	14	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:149513540C>T	uc003lro.2	-	5	1132	c.663G>A	c.(661-663)GTG>GTA	p.V221V	PDGFRB_uc010jhd.2_Silent_p.V60V|PDGFRB_uc011dcg.1_Silent_p.V221V	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	221	Extracellular (Potential).|Ig-like C2-type 3.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCACAGTCTGCACTGCGTTCA	0.527			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								T	149513540	C	T	149513540	2	4	19	1	0	0	0	0	0	0	0	1	11662	697	25	2		2	PDGFRB	5	149513540	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	247605	149513540	31401720	1012	15311											
TCOF1	6949	broad.mit.edu	37	chr5	149759253	149759253	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagcagcagcgaggaatcAgacagtgatggggaggcacc	18	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:149759253A>G	uc003lry.2	+	17	2925	c.2817A>G	c.(2815-2817)TCA>TCG	p.S939S	TCOF1_uc003lrw.2_Silent_p.S939S|TCOF1_uc011dch.1_Silent_p.S939S|TCOF1_uc003lrz.2_Silent_p.S939S|TCOF1_uc003lrx.2_Silent_p.S862S|TCOF1_uc003lsa.2_Silent_p.S862S|TCOF1_uc011dci.1_Silent_p.S368S	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	939					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGAGGAATCAGACAGTGATG	0.627													G	149759253	A	G	149759253	2	3	19	1	0	0	0	0	0	0	0	1	15705	175	7	3		3	TCOF1	5	149759253	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	245713	149759253	31156007	1013	15312											
FAT2	2196	broad.mit.edu	37	chr5	150886794	150886794	+	Frame_Shift_Del	DEL	G	G	-													accgcagctggcgggagtctGgggggcacactgcagaccac							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:150886793_150886793TG>T	uc003lue.4	-	21	12452	c.12439_12439CA>A	c.(12439-12441)agafs	p.R4147fs	FAT2_uc003lud.4_Frame_Shift_Del_p.R754fs	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	4147					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCGGGAGTCTGGGGGGCACA	0.562													-	150886794	G	-	150886794	7	5	19	1	0	1	0	1	0	0	0	0	5690	1335	47	0	619	0	FAT2	5	150886794	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	1127541	150886794	30028466	1014	15313											
NMUR2	56923	broad.mit.edu	37	chr5	151784146	151784146	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgttgggcagggagaAgagcacggagaagccccaga	18	8	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:151784146A>C	uc003luv.2	-	1	695	c.529T>G	c.(529-531)TTC>GTC	p.F177V		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	177	Helical; Name=4; (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGCAGGGAGAAGAGCACGGAG	0.632													C	151784146	A	C	151784146	3	2	19	1	0	0	0	0	1	0	0	0	10507	72	3	5	734	5	NMUR2	5	151784146	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	897352	151784146	29131114	1015	15314											
HAND1	9421	broad.mit.edu	37	chr5	153857288	153857288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtcctgagcctttccgcCggccaagacggccgccaagc	13	16	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:153857288C>T	uc003lvn.2	-	1	537	c.281G>A	c.(280-282)CGG>CAG	p.R94Q		NM_004821	NP_004812	O96004	HAND1_HUMAN	basic helix-loop-helix transcription factor	94	Basic motif.				angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity				0	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GCCTTTCCGCCGGCCAAGACG	0.632													T	153857288	C	T	153857288	3	4	19	1	0	0	0	0	1	0	0	0	6949	652	23	1	374	1	HAND1	5	153857288	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2073142	153857288	27057972	1016	15315											
LARP1	23367	broad.mit.edu	37	chr5	154179464	154179464	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctctcctcgtgcagtcacCccagtgccaaccaaaacaga	8	16	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:154179464C>T	uc003lvp.2	+	10	2007	c.1578C>T	c.(1576-1578)ACC>ACT	p.T526T	LARP1_uc003lvo.2_Silent_p.T449T|LARP1_uc010jie.1_Silent_p.T321T	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	526							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTGCAGTCACCCCAGTGCCAA	0.577													T	154179464	C	T	154179464	2	4	19	1	0	0	0	0	0	0	0	1	8628	610	22	4		4	LARP1	5	154179464	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	322176	154179464	26735796	1017	15316											
GEMIN5	25929	broad.mit.edu	37	chr5	154281007	154281007	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgaaaacacagctgtttgGcaaaagcttccacagcccat	7	13	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:154281007G>C	uc003lvx.3	-	21	2989	c.2906C>G	c.(2905-2907)GCC>GGC	p.A969G	GEMIN5_uc011ddk.1_Missense_Mutation_p.A968G	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	969					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGCTGTTTGGCAAAAGCTTC	0.418													C	154281007	G	C	154281007	3	2	19	1	0	0	0	0	1	0	0	0	6331	1203	42	5	1652	5	GEMIN5	5	154281007	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	101543	154281007	26634253	1018	15317											
TIMD4	91937	broad.mit.edu	37	chr5	156375481	156375481	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccacattgacacgtgggAtgttgatgggagatcccaaa	11	8	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:156375481A>G	uc003lwh.2	-	5	847	c.790T>C	c.(790-792)TCC>CCC	p.S264P	TIMD4_uc010jii.2_Intron	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain	264	Ser-rich.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACACGTGGGATGTTGATGGG	0.383													G	156375481	A	G	156375481	3	3	19	1	0	0	0	0	1	0	0	0	15900	333	12	3	366	3	TIMD4	5	156375481	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2094474	156375481	24539779	1019	15318											
HAVCR1	26762	broad.mit.edu	37	chr5	156479583	156479583	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagtcgtcattggaacagtCgttgtcgttggaacagtggt	13	7	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:156479583C>T	uc010jij.1	-	4	647	c.462G>A	c.(460-462)ACG>ACA	p.T154T	HAVCR1_uc011ddl.1_5'UTR|HAVCR1_uc003lwi.2_Silent_p.T154T|HAVCR1_uc011ddm.1_Silent_p.T154T	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	154	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Extracellular (Potential).|3.|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity			ovary(1)|skin(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGGAACAGTCGTTGTCGTTG	0.473													T	156479583	C	T	156479583	2	4	19	1	0	0	0	0	0	0	0	1	6973	871	31	1		1	HAVCR1	5	156479583	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	104102	156479583	24435677	1020	15319											
NIPAL4	348938	broad.mit.edu	37	chr5	156899400	156899400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcctcatctttgtcattgCcccacgttacgggcaaagga	8	13	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:156899400C>T	uc003lwx.3	+	6	949	c.833C>T	c.(832-834)GCC>GTC	p.A278V	ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.A259V	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	ichthyin protein	278	Helical; (Potential).					integral to membrane	receptor activity				0						TTTGTCATTGCCCCACGTTAC	0.532											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	156899400	C	T	156899400	3	4	19	1	0	0	0	0	1	0	0	0	10427	739	26	2	855	2	NIPAL4	5	156899400	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	419817	156899400	24015860	1021	15320											
TTC1	7265	broad.mit.edu	37	chr5	159437849	159437849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaactggaaaaaaacatgtCggatgaagagaaacaggtaa	11	4	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:159437849C>T	uc003lxu.2	+	2	364	c.314C>T	c.(313-315)TCG>TTG	p.S105L		NM_003314	NP_003305	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	105					protein folding		unfolded protein binding			skin(1)	1	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		AAAAACATGTCGGATGAAGAG	0.378													T	159437849	C	T	159437849	3	4	19	1	0	0	0	0	1	0	0	0	16675	893	31	1	316	1	TTC1	5	159437849	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2538449	159437849	21477411	1022	15321											
C1QTNF2	114898	broad.mit.edu	37	chr5	159797639	159797639	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcggccccaggcatagtttTcccatcccgtcatgggcggg	13	14	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:159797639T>C	uc003lyd.2	-	1	10	c.6A>G	c.(4-6)GGA>GGG	p.G2G		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	Error:Variant_position_missing_in_Q9BXJ5_after_alignment						collagen				skin(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCATAGTTTTCCCATCCCGT	0.642													C	159797639	T	C	159797639	2	2	19	1	0	0	0	0	0	0	0	1	1963	1770	62	3		3	C1QTNF2	5	159797639	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	359790	159797639	21117621	1023	15322											
PTTG1	9232	broad.mit.edu	37	chr5	159849801	159849801	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagccttacctaaagcTactagaaaggctttgggaac	8	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:159849801T>G	uc003lyj.2	+	3	222	c.177T>G	c.(175-177)GCT>GCG	p.A59A	PTTG1_uc003lyk.2_Silent_p.A59A	NM_004219	NP_004210	O95997	PTTG1_HUMAN	pituitary tumor-transforming protein 1	59					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		TACCTAAAGCTACTAGAAAGG	0.443													G	159849801	T	G	159849801	2	3	19	1	0	0	0	0	0	0	0	1	12819	1509	53	5		5	PTTG1	5	159849801	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	52162	159849801	21065459	1024	15323											
GABRA6	2559	broad.mit.edu	37	chr5	161115971	161115971	+	Frame_Shift_Del	DEL	T	T	-													ttaggagtatacgatggatgTttttttccgccagacctgga							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:161115970_161115970GT>G	uc003lyu.2	+	3	579	c.241_241GT>G	c.(241-243)gttfs	p.V81fs	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	81					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.V81F(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TACGATGGATGTTTTTTTCCG	0.403										TCGA Ovarian(5;0.080)			-	161115971	T	-	161115971	7	5	19	1	0	1	0	1	0	0	0	0	6165	1725	60	0	256	0	GABRA6	5	161115971	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	1266170	161115971	19799289	1025	15324											
GABRG2	2566	broad.mit.edu	37	chr5	161522510	161522510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctttacagtgaagccaaCgttaattcacacagacatgt	6	10	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:161522510C>T	uc003lyz.3	+	3	627	c.269C>T	c.(268-270)ACG>ATG	p.T90M	GABRG2_uc010jjc.2_Missense_Mutation_p.T90M|GABRG2_uc003lyy.3_Missense_Mutation_p.T90M|GABRG2_uc011dej.1_Translation_Start_Site	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	90	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GTGAAGCCAACGTTAATTCAC	0.323													T	161522510	C	T	161522510	3	4	19	1	0	0	0	0	1	0	0	0	6172	536	19	1	279	1	GABRG2	5	161522510	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	406539	161522510	19392750	1026	15325											
ODZ2	57451	broad.mit.edu	37	chr5	167674786	167674786	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctgacatcttcgaatacaAttccaagggcctcctaacaa	6	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:167674786A>G	uc010jjd.2	+	27	6815	c.6815A>G	c.(6814-6816)AAT>AGT	p.N2272S	ODZ2_uc003lzr.3_Missense_Mutation_p.N2042S|ODZ2_uc003lzt.3_Missense_Mutation_p.N1645S|ODZ2_uc010jje.2_Missense_Mutation_p.N1536S	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TTCGAATACAATTCCAAGGGC	0.537													G	167674786	A	G	167674786	3	3	19	1	0	0	0	0	1	0	0	0	10835	101	4	3	6921	3	ODZ2	5	167674786	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	6152276	167674786	13240474	1027	15326											
WWC1	23286	broad.mit.edu	37	chr5	167850888	167850888	+	Frame_Shift_Del	DEL	C	C	-													cccacgttcctctctctcctCcccctccccaccctgttccc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:167850888delC	uc003lzu.2	+	11	1718	c.1625delC	c.(1624-1626)TCCfs	p.S542fs	WWC1_uc003lzv.2_Frame_Shift_Del_p.S542fs|WWC1_uc011den.1_Frame_Shift_Del_p.S542fs|WWC1_uc003lzw.2_Frame_Shift_Del_p.S341fs	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	542					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TCTCTCTCCTCCCCCTCCCCA	0.627													-	167850888	C	-	167850888	7	5	19	1	0	1	0	1	0	0	0	0	17408	855	30	0	1667	0	WWC1	5	167850888	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	176102	167850888	13064372	1028	15327											
TLX3	30012	broad.mit.edu	37	chr5	170736691	170736691	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgcctctgccaagcgcgCtacccgccatgccctccgtg	9	21	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:170736691C>T	uc003mbf.2	+	1	404	c.322C>T	c.(322-324)CTA>TTA	p.L108L	uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	108						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCAAGCGCGCTACCCGCCAT	0.682			T	BCL11B	T-ALL								T	170736691	C	T	170736691	2	4	19	1	0	0	0	0	0	0	0	1	15959	796	28	2		2	TLX3	5	170736691	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2885803	170736691	10178569	1029	15328											
FBXW11	23291	broad.mit.edu	37	chr5	171384609	171384609	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagagaggcacctggagacAtctgacactgggcatgctct	13	10	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:171384609A>G	uc003mbm.1	-	2	510	c.139T>C	c.(139-141)TGT>CGT	p.C47R	FBXW11_uc011dey.1_Intron|FBXW11_uc003mbl.1_Intron|FBXW11_uc003mbn.1_Intron	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11 isoform	47					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.N260_I262(1)		ovary(1)|breast(1)	2	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACCTGGAGACATCTGACACTG	0.473													G	171384609	A	G	171384609	3	3	19	1	0	0	0	0	1	0	0	0	5764	217	8	3	1600	3	FBXW11	5	171384609	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	647918	171384609	9530651	1030	15329											
STK10	6793	broad.mit.edu	37	chr5	171509453	171509453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctccatcttctccacttgCtgcttttgctgacgctccag	7	15	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:171509453C>T	uc003mbo.1	-	12	2166	c.1866G>A	c.(1864-1866)CAG>CAA	p.Q622Q		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	622	Potential.						ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTCCACTTGCTGCTTTTGCT	0.542													T	171509453	C	T	171509453	2	4	19	1	0	0	0	0	0	0	0	1	15285	796	28	2		2	STK10	5	171509453	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	124844	171509453	9405807	1031	15330											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171765730	171765730	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaggagagcacggcctggGgtgggagctgccctgctttc	17	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:171765730G>A	uc003mbr.2	-	13	2550	c.2379C>T	c.(2377-2379)ACC>ACT	p.T793T		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	793	Pro-rich.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACGGCCTGGGGTGGGAGCTG	0.612													A	171765730	G	A	171765730	2	1	19	1	0	0	0	0	0	0	0	1	14257	1219	43	4		4	SH3PXD2B	5	171765730	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	256277	171765730	9149530	1032	15331											
MSX2	4488	broad.mit.edu	37	chr5	174156417	174156417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaagctgaaaatggctgCaaaacctatgctgccctcca	9	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:174156417C>T	uc003mcy.2	+	2	723	c.635C>T	c.(634-636)GCA>GTA	p.A212V		NM_002449	NP_002440	P35548	MSX2_HUMAN	msh homeobox 2	212					cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAAATGGCTGCAAAACCTATG	0.542													T	174156417	C	T	174156417	3	4	19	1	0	0	0	0	1	0	0	0	9896	710	25	2	641	2	MSX2	5	174156417	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2390687	174156417	6758843	1033	15332											
ARL10	285598	broad.mit.edu	37	chr5	175793505	175793505	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttgtcggggaagccaccGctggaaggccacatccccac	13	14	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:175793505G>A	uc003mec.1	+	2	371	c.306G>A	c.(304-306)CCG>CCA	p.P102P	ARL10_uc003meb.2_Silent_p.P102P|MIR1271_hsa-mir-1271|MI0003814_5'Flank	NM_173664	NP_775935	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	102							GTP binding			ovary(1)	1	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		GGAAGCCACCGCTGGAAGGCC	0.652													A	175793505	G	A	175793505	2	1	19	1	0	0	0	0	0	0	0	1	926	1074	38	1		1	ARL10	5	175793505	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1637088	175793505	5121755	1034	15333											
ARL10	285598	broad.mit.edu	37	chr5	175798761	175798761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtatgggggagctgcagCgggagctgggtctacaggct	19	7	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:175798761C>T	uc003mec.1	+	4	663	c.598C>T	c.(598-600)CGG>TGG	p.R200W		NM_173664	NP_775935	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	200							GTP binding			ovary(1)	1	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		GGAGCTGCAGCGGGAGCTGGG	0.587													T	175798761	C	T	175798761	3	4	19	1	0	0	0	0	1	0	0	0	926	759	27	1	612	1	ARL10	5	175798761	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	5256	175798761	5116499	1035	15334											
RNF44	22838	broad.mit.edu	37	chr5	175958479	175958479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccgggggcgggaggcaGcagagggggtaatgctgccc	19	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:175958479G>A	uc003mek.1	-	4	975	c.450C>T	c.(448-450)TGC>TGT	p.C150C	RNF44_uc011dfo.1_Silent_p.C58C|RNF44_uc003mel.1_5'Flank	NM_014901	NP_055716	Q7L0R7	RNF44_HUMAN	ring finger protein 44	150	Pro-rich.						zinc ion binding				0	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGGGAGGCAGCAGAGGGGGT	0.662													A	175958479	G	A	175958479	2	1	19	1	0	0	0	0	0	0	0	1	13496	963	34	2		2	RNF44	5	175958479	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	159718	175958479	4956781	1036	15335											
CDHR2	54825	broad.mit.edu	37	chr5	176011640	176011640	+	Frame_Shift_Del	DEL	G	G	-													gctgagaacccagacccccaGgggggtgagaccatagtaga							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:176011639_176011639AG>A	uc021yie.1	+	18	2631	c.2357_2357AG>A	c.(2356-2358)cagfs	p.Q786fs	CDHR2_uc003mem.2_Frame_Shift_Del_p.Q786fs|CDHR2_uc003men.1_Frame_Shift_Del_p.Q786fs	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	786	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCAGACCCCCAGGGGGGTGAG	0.607													-	176011640	G	-	176011640	7	5	19	1	0	1	0	1	0	0	0	0	3119	991	35	0	2428	0	CDHR2	5	176011640	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	53161	176011640	4903620	1037	15336											
UNC5A	90249	broad.mit.edu	37	chr5	176306317	176306317	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcccacctccaggacacaAggtttgctgagctgctggct	10	15	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:176306317A>G	uc003mey.2	+	14	2383	c.2191A>G	c.(2191-2193)AGG>GGG	p.R731G		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	731	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGACACAAGGTTTGCTGA	0.627													G	176306317	A	G	176306317	3	3	19	1	0	0	0	0	1	0	0	0	16988	63	3	3	2245	3	UNC5A	5	176306317	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	294677	176306317	4608943	1038	15337											
NSD1	64324	broad.mit.edu	37	chr5	176707797	176707797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattttccgcacattacagCggggttggggtctacggaca	12	9	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:176707797C>T	uc003mfr.3	+	18	5992	c.5854C>T	c.(5854-5856)CGG>TGG	p.R1952W	NSD1_uc003mft.3_Missense_Mutation_p.R1683W|NSD1_uc003mfs.1_Missense_Mutation_p.R1849W|NSD1_uc011dfx.1_Missense_Mutation_p.R1600W	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1952	S-adenosyl-L-methionine binding.|SET.			R->W: Nearly abolished enzyme activity.	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CACATTACAGCGGGGTTGGGG	0.448			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			T	176707797	C	T	176707797	3	4	19	1	0	0	0	0	1	0	0	0	10669	759	27	1	5920	1	NSD1	5	176707797	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	401480	176707797	4207463	1039	15338											
F12	2161	broad.mit.edu	37	chr5	176832994	176832994	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctggccggcccttgtgggTacatttgtggtacagctgcc	14	12	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:176832994T>C	uc003mgo.3	-	3	233	c.184A>G	c.(184-186)ACC>GCC	p.T62A	F12_uc011dfy.1_5'Flank|F12_uc003mgn.3_5'Flank|F12_uc010jkl.2_RNA	NM_000505	NP_000496	P00748	FA12_HUMAN	coagulation factor XII precursor	62	Fibronectin type-II.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTTGTGGGTACATTTGTGG	0.607									Hereditary_Angioedema				C	176832994	T	C	176832994	3	2	19	1	0	0	0	0	1	0	0	0	5339	1638	57	3	1711	3	F12	5	176832994	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	125197	176832994	4082266	1040	15339											
PDLIM7	9260	broad.mit.edu	37	chr5	176911090	176911090	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgctcgcaatagggcacGccctcctccatgtagaaggc	10	16	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:176911090G>A	uc003mhc.1	-	11	1237	c.1152C>T	c.(1150-1152)GGC>GGT	p.G384G	PDLIM7_uc003mha.1_Silent_p.G278G|PDLIM7_uc003mhb.1_Silent_p.G350G|PDLIM7_uc003mhd.1_Silent_p.G236G|PDLIM7_uc003mhe.1_RNA	NM_005451	NP_005442	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 isoform 1	384	LIM zinc-binding 2.				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)	1	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATAGGGCACGCCCTCCTCCA	0.602													A	176911090	G	A	176911090	2	1	19	1	0	0	0	0	0	0	0	1	11684	1074	38	1		1	PDLIM7	5	176911090	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	78096	176911090	4004170	1041	15340											
FAM193B	54540	broad.mit.edu	37	chr5	176952098	176952098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgacccgatccagttcccGgtcgggccactccaagagcc	11	16	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:176952098G>A	uc003mhs.3	-	8	2874	c.1285C>T	c.(1285-1287)CGG>TGG	p.R429W	FAM193B_uc003mhr.2_5'UTR|FAM193B_uc003mht.2_Missense_Mutation_p.R88W|FAM193B_uc003mhu.2_Missense_Mutation_p.R141W|FAM193B_uc003mhv.2_Missense_Mutation_p.R88W|FAM193B_uc003mhw.2_RNA	NM_019057	NP_061930	E9PET5	E9PET5_HUMAN	hypothetical protein LOC54540	462											0						TCCAGTTCCCGGTCGGGCCAC	0.577													A	176952098	G	A	176952098	3	1	19	1	0	0	0	0	1	0	0	0	5525	1115	39	1	1096	1	FAM193B	5	176952098	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	41008	176952098	3963162	1042	15341											
TMED9	54732	broad.mit.edu	37	chr5	177020670	177020670	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatcctggcccggcagtAtggctccgagggcaggttca	15	12	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:177020670A>G	uc003mhx.2	+	3	308	c.305A>G	c.(304-306)TAT>TGT	p.Y102C	TMED9_uc010jko.2_RNA	NM_017510	NP_059980	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain	102	GOLD.|Lumenal (Potential).			Y -> C (in Ref. 3; AAL35268).	transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane					0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCGGCAGTATGGCTCCGAG	0.517													G	177020670	A	G	177020670	3	3	19	1	0	0	0	0	1	0	0	0	16009	449	16	3	315	3	TMED9	5	177020670	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	68572	177020670	3894590	1043	15342											
HNRNPAB	3182	broad.mit.edu	37	chr5	177632889	177632889	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggatactagcaaaaaagatTtaaaagactattttactaaa	6	4	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:177632889T>G	uc003miu.2	+	3	513	c.256T>G	c.(256-258)TTA>GTA	p.L86V	HNRNPAB_uc003miv.2_Missense_Mutation_p.L86V|HNRNPAB_uc010jks.2_Missense_Mutation_p.L86V|HNRNPAB_uc003miw.2_Missense_Mutation_p.L86V|HNRNPAB_uc003mix.2_Missense_Mutation_p.L86V	NM_031266	NP_112556	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B	85	RRM 1.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0						CAAAAAAGATTTAAAAGACTA	0.408													G	177632889	T	G	177632889	3	3	19	1	0	0	0	0	1	0	0	0	7261	1838	64	5	262	5	HNRNPAB	5	177632889	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	612219	177632889	3282371	1044	15343											
ZNF354B	117608	broad.mit.edu	37	chr5	178311048	178311048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatgtgggatgtcttttgGccaaagtgcagctcttatac	11	7	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:178311048G>A	uc003mjl.2	+	5	1821	c.1595G>A	c.(1594-1596)GGC>GAC	p.G532D	ZNF354B_uc003mjm.2_Missense_Mutation_p.G532D	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	532	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGTCTTTTGGCCAAAGTGCA	0.368													A	178311048	G	A	178311048	3	1	19	1	0	0	0	0	1	0	0	0	17862	1203	42	2	1609	2	ZNF354B	5	178311048	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	678159	178311048	2604212	1045	15344											
ZNF354C	30832	broad.mit.edu	37	chr5	178506355	178506355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtagggaatgtggtaaaGcctttagccagtgttcaacc	12	7	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:178506355G>A	uc003mju.2	+	5	1037	c.922G>A	c.(922-924)GCC>ACC	p.A308T		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	308	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		ATGTGGTAAAGCCTTTAGCCA	0.428													A	178506355	G	A	178506355	3	1	19	1	0	0	0	0	1	0	0	0	17863	971	34	2	936	2	ZNF354C	5	178506355	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	195307	178506355	2408905	1046	15345											
ADAMTS2	9509	broad.mit.edu	37	chr5	178541014	178541014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccatggattttgtaggGttcatctacggcattggttt	12	7	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:178541014G>A	uc003mjw.2	-	22	3490	c.3490C>T	c.(3490-3492)CCC>TCC	p.P1164S	uc003mjv.3_5'Flank	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1164					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATTTTGTAGGGTTCATCTACG	0.547													A	178541014	G	A	178541014	3	1	19	1	0	0	0	0	1	0	0	0	265	1261	44	4	149	4	ADAMTS2	5	178541014	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	34659	178541014	2374246	1047	15346											
TRIM41	90933	broad.mit.edu	37	chr5	180651147	180651147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtaacccagttgtggggtGgggaggatgaggaggacaga	20	4	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:180651147G>A	uc003mne.1	+	1	842	c.148G>A	c.(148-150)GGG>AGG	p.G50R	uc003mnb.1_3'UTR|TRIM41_uc003mnc.1_Missense_Mutation_p.G50R|TRIM41_uc003mnd.1_Missense_Mutation_p.G50R|TRIM41_uc003mnf.1_RNA	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	tripartite motif-containing 41 isoform 1	50	RING-type.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding				0	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTGTGGGGTGGGGAGGATGA	0.498													A	180651147	G	A	180651147	3	1	19	1	0	0	0	0	1	0	0	0	16513	1348	47	4	150	4	TRIM41	5	180651147	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2110133	180651147	264113	1048	15347											
FOXC1	2296	broad.mit.edu	37	chr6	1611083	1611083	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaacctctcgctcaacgagTgcttcgtcaaggtgccgcgc	10	15	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:1611083T>C	uc003mtp.2	+	1	403	c.403T>C	c.(403-405)TGC>CGC	p.C135R		NM_001453	NP_001444	Q12948	FOXC1_HUMAN	forkhead box C1	135	Fork-head.				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		GCTCAACGAGTGCTTCGTCAA	0.597													C	1611083	T	C	1611083	3	2	19	1	0	0	0	0	1	0	0	0	5994	1696	59	3	405	3	FOXC1	6	1611083	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08		1611083	169503984	1049	15348											
MYLK4	340156	broad.mit.edu	37	chr6	2683360	2683360	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgtcaaattgtagctctcAtcgatgatgcggtcaaacag	9	10	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:2683360A>G	uc003mty.3	-	7	879	c.582T>C	c.(580-582)GAT>GAC	p.D194D		NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	194	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(3)|ovary(1)	4	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TGTAGCTCTCATCGATGATGC	0.493													G	2683360	A	G	2683360	2	3	19	1	0	0	0	0	0	0	0	1	10059	214	8	3		3	MYLK4	6	2683360	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1072277	2683360	168431707	1050	15349											
FAM50B	26240	broad.mit.edu	37	chr6	3850929	3850929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgggcaaggtggtgctgcGcagctggtacgagaagaaca	17	9	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:3850929G>A	uc003mvu.2	+	2	996	c.884G>A	c.(883-885)CGC>CAC	p.R295H		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	295						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GTGGTGCTGCGCAGCTGGTAC	0.627													A	3850929	G	A	3850929	3	1	19	1	0	0	0	0	1	0	0	0	5578	1087	38	1	886	1	FAM50B	6	3850929	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1167569	3850929	167264138	1051	15350											
PRPF4B	8899	broad.mit.edu	37	chr6	4044165	4044165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattctggagcgagtagctgCtgatgttaaagagtatgaac	12	6	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:4044165C>T	uc003mvv.2	+	6	1860	c.1769C>T	c.(1768-1770)GCT>GTT	p.A590V	PRPF4B_uc003mvw.2_RNA|PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	590						catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CGAGTAGCTGCTGATGTTAAA	0.448													T	4044165	C	T	4044165	3	4	19	1	0	0	0	0	1	0	0	0	12573	797	28	2	1791	2	PRPF4B	6	4044165	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	193236	4044165	167070902	1052	15351											
PRPF4B	8899	broad.mit.edu	37	chr6	4060797	4060797	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgttggacccagctaaaCgaattagcatcaaccaggcc	9	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:4060797C>T	uc003mvv.2	+	15	3062	c.2971C>T	c.(2971-2973)CGA>TGA	p.R991*	PRPF4B_uc003mvw.2_RNA|C6orf146_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	991	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CCCAGCTAAACGAATTAGCAT	0.433													T	4060797	C	T	4060797	4	4	19	1	0	0	0	0	0	1	0	0	12573	528	19	1	3029	1	PRPF4B	6	4060797	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	16632	4060797	167054270	1053	15352											
CDYL	9425	broad.mit.edu	37	chr6	4892220	4892220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacctctcctaaggcactcGtgattgggaaagaccacgaa	10	11	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:4892220G>A	uc003mwi.2	+	4	591	c.460G>A	c.(460-462)GTG>ATG	p.V154M	CDYL_uc003mwj.2_Missense_Mutation_p.V100M|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_Translation_Start_Site|CDYL_uc011dhy.1_Translation_Start_Site	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	154					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TAAGGCACTCGTGATTGGGAA	0.483													A	4892220	G	A	4892220	3	1	19	1	0	0	0	0	1	0	0	0	3185	1145	40	1	304	1	CDYL	6	4892220	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	831423	4892220	166222847	1054	15353											
RREB1	6239	broad.mit.edu	37	chr6	7229890	7229890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacaccacggacggtggtgGccacctccacgcccccgcct	10	20	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:7229890G>A	uc003mxc.2	+	10	1948	c.1558G>A	c.(1558-1560)GCC>ACC	p.A520T	RREB1_uc003mxb.2_Missense_Mutation_p.A520T|RREB1_uc010jnx.2_Missense_Mutation_p.A520T	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	520	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GACGGTGGTGGCCACCTCCAC	0.682													A	7229890	G	A	7229890	3	1	19	1	0	0	0	0	1	0	0	0	13679	1203	42	2	1584	2	RREB1	6	7229890	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2337670	7229890	163885177	1055	15354											
RREB1	6239	broad.mit.edu	37	chr6	7231588	7231588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccctgctgaaaaccaagGtggcggacccagggcccgca	12	16	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:7231588G>A	uc003mxc.2	+	10	3646	c.3256G>A	c.(3256-3258)GTG>ATG	p.V1086M	RREB1_uc003mxb.2_Missense_Mutation_p.V1086M|RREB1_uc010jnx.2_Missense_Mutation_p.V1086M	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1086					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GAAAACCAAGGTGGCGGACCC	0.637													A	7231588	G	A	7231588	3	1	19	1	0	0	0	0	1	0	0	0	13679	1261	44	4	3282	4	RREB1	6	7231588	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1698	7231588	163883479	1056	15355											
DSP	1832	broad.mit.edu	37	chr6	7580103	7580103	+	Frame_Shift_Del	DEL	A	A	-													catcaaggagatatccatgcAaaaagaggatgattccaaaa							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:7580103delA	uc003mxp.1	+	23	3959	c.3680delA	c.(3679-3681)CAAfs	p.Q1227fs	DSP_uc003mxq.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1227	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATATCCATGCAAAAAGAGGAT	0.368													-	7580103	A	-	7580103	7	5	19	1	0	1	0	1	0	0	0	0	4781	130	5	0	3770	0	DSP	6	7580103	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	348515	7580103	163534964	1057	15356											
DSP	1832	broad.mit.edu	37	chr6	7580509	7580509	+	Frame_Shift_Del	DEL	A	A	-													gatgaggagatcattagcttAaaaaatcagtttgagaccga							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:7580508_7580508TA>T	uc003mxp.1	+	22	4364	c.4085_4085TA>T	c.(4084-4086)ttafs	p.L1362fs	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1362	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCATTAGCTTAAAAAATCAG	0.458													-	7580509	A	-	7580509	7	5	19	1	0	1	0	1	0	0	0	0	4781	359	13	0	4176	0	DSP	6	7580509	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	406	7580509	163534558	1058	15357											
SNRNP48	154007	broad.mit.edu	37	chr6	7606326	7606326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggaagctatttggatgCtgagtgttcacgacatagaa	13	5	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:7606326C>T	uc003mxr.2	+	8	928	c.869C>T	c.(868-870)GCT>GTT	p.A290V	SNRNP48_uc003mxs.2_RNA|SNRNP48_uc003mxt.1_Missense_Mutation_p.A42V	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	U11/U12 snRNP 48K	290					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding				0						TATTTGGATGCTGAGTGTTCA	0.393													T	7606326	C	T	7606326	3	4	19	1	0	0	0	0	1	0	0	0	14857	797	28	2	899	2	SNRNP48	6	7606326	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	25817	7606326	163508741	1059	15358											
TXNDC5	81567	broad.mit.edu	37	chr6	7904900	7904900	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttggcatcttccatgctgTtgtatttgtctcccaggtca	8	11	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:7904900T>C	uc003mxv.2	-	2	352	c.320A>G	c.(319-321)AAC>AGC	p.N107S	TXNDC5_uc003mxw.2_Missense_Mutation_p.N64S|TXNDC5_uc010jnz.2_5'UTR|TXNDC5_uc010joa.1_5'UTR	NM_030810	NP_110437	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 isoform 1	107	Thioredoxin 1.				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity				0	Ovarian(93;0.0398)					TTCCATGCTGTTGTATTTGTC	0.552													C	7904900	T	C	7904900	3	2	19	1	0	0	0	0	1	0	0	0	16796	1725	60	3	1014	3	TXNDC5	6	7904900	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	298574	7904900	163210167	1060	15359											
EEF1E1	9521	broad.mit.edu	37	chr6	8090483	8090483	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaagttataccctgtaaggTagactttatcttcaagatat	6	6	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:8090483T>C	uc003mxz.2	-	3	394	c.320A>G	c.(319-321)TAC>TGC	p.Y107C	EEF1E1_uc011dic.1_Missense_Mutation_p.Y107C	NM_004280	NP_004271	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1	107	GST C-terminal.				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus					0	Ovarian(93;0.0398)					CCCTGTAAGGTAGACTTTATC	0.249													C	8090483	T	C	8090483	3	2	19	1	0	0	0	0	1	0	0	0	4927	1638	57	3	252	3	EEF1E1	6	8090483	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	185583	8090483	163024584	1061	15360											
HIVEP1	3096	broad.mit.edu	37	chr6	12120215	12120215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatcacctgaaaaaaataCcaaaatccccactgagaaat	4	10	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:12120215C>T	uc003nac.2	+	4	366	c.187C>T	c.(187-189)CCA>TCA	p.P63S	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	63					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAAAAAAATACCAAAATCCCC	0.398													T	12120215	C	T	12120215	3	4	19	1	0	0	0	0	1	0	0	0	7186	507	18	4	197	4	HIVEP1	6	12120215	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	4029732	12120215	158994852	1062	15361											
PHACTR1	221692	broad.mit.edu	37	chr6	13283685	13283685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccacggtggaagagcttcGggaaagaaagatcctcatcc	12	11	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:13283685G>A	uc010jpc.2	+	13	1873	c.1541G>A	c.(1540-1542)CGG>CAG	p.R514Q	PHACTR1_uc003nah.1_Missense_Mutation_p.R514Q|TBC1D7_uc003naj.2_Intron|TBC1D7_uc011dis.1_Intron|uc003nak.1_Intron	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	514	RPEL 4.					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity				0	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GAAGAGCTTCGGGAAAGAAAG	0.592													A	13283685	G	A	13283685	3	1	19	1	0	0	0	0	1	0	0	0	11809	1116	39	1	1583	1	PHACTR1	6	13283685	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1163470	13283685	157831382	1063	15362											
TBC1D7	51256	broad.mit.edu	37	chr6	13306708	13306708	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggttaataaaatttcgacAgctacaaaaactaggatctt	6	6	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:13306708A>G	uc003naj.2	-	7	808	c.717T>C	c.(715-717)GCT>GCC	p.A239A	TBC1D7_uc011dis.1_Intron|TBC1D7_uc003nan.2_Silent_p.A239A|TBC1D7_uc003nal.2_Silent_p.A239A|TBC1D7_uc003nam.2_Silent_p.A239A|TBC1D7_uc003nao.2_Silent_p.A212A|TBC1D7_uc010jpd.2_Silent_p.A193A|TBC1D7_uc003nap.2_3'UTR	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7 isoform a	239					positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			ovary(1)	1	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			AAATTTCGACAGCTACAAAAA	0.308													G	13306708	A	G	13306708	2	3	19	1	0	0	0	0	0	0	0	1	15621	175	7	3		3	TBC1D7	6	13306708	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	23023	13306708	157808359	1064	15363											
GFOD1	54438	broad.mit.edu	37	chr6	13365792	13365792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaagcgcagcacgttgCccatgatgctcatgagcttg	13	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:13365792C>T	uc003nat.1	-	2	1021	c.356G>A	c.(355-357)GGC>GAC	p.G119D	GFOD1_uc003nas.1_Missense_Mutation_p.G16D	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain	119						extracellular region	binding|oxidoreductase activity			ovary(2)	2	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			CAGCACGTTGCCCATGATGCT	0.647													T	13365792	C	T	13365792	3	4	19	1	0	0	0	0	1	0	0	0	6343	739	26	2	820	2	GFOD1	6	13365792	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	59084	13365792	157749275	1065	15364											
JARID2	3720	broad.mit.edu	37	chr6	15496925	15496925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgtgaagaaggaagtgcCggagcgcagtctggagagga	17	7	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:15496925C>T	uc003nbj.2	+	7	1713	c.1469C>T	c.(1468-1470)CCG>CTG	p.P490L	JARID2_uc011diu.1_Missense_Mutation_p.P354L|JARID2_uc011div.1_Missense_Mutation_p.P318L|JARID2_uc011diw.1_Missense_Mutation_p.P452L	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	490					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AAGGAAGTGCCGGAGCGCAGT	0.662													T	15496925	C	T	15496925	3	4	19	1	0	0	0	0	1	0	0	0	7945	652	23	1	1495	1	JARID2	6	15496925	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2131133	15496925	155618142	1066	15365											
DTNBP1	84062	broad.mit.edu	37	chr6	15638027	15638027	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagtgcagcccatgtaTcctcatacctaaaaaaaagc	7	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:15638027T>A	uc003nbm.2	-	4	341	c.170A>T	c.(169-171)GAT>GTT	p.D57V	DTNBP1_uc003nbl.2_5'UTR|DTNBP1_uc003nbn.2_RNA|DTNBP1_uc003nbo.2_RNA|DTNBP1_uc003nbp.2_Missense_Mutation_p.D57V|DTNBP1_uc010jph.2_Missense_Mutation_p.D44V	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1 isoform a	57					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding				0	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			AGCCCATGTATCCTCATACCT	0.303									Hermansky-Pudlak_syndrome				A	15638027	T	A	15638027	3	1	19	1	0	0	0	0	1	0	0	0	4790	1435	50	5	1014	5	DTNBP1	6	15638027	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	141102	15638027	155477040	1067	15366											
MYLIP	29116	broad.mit.edu	37	chr6	16143397	16143397	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaactgctcattggggTtggacctgaaggaatctcaa	12	8	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:16143397T>C	uc003nbq.2	+	4	848	c.611T>C	c.(610-612)GTT>GCT	p.V204A	MYLIP_uc003nbr.2_Missense_Mutation_p.V23A	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting	204	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			pancreas(1)	1	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CTCATTGGGGTTGGACCTGAA	0.413													C	16143397	T	C	16143397	3	2	19	1	0	0	0	0	1	0	0	0	10055	1725	60	3	625	3	MYLIP	6	16143397	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	505370	16143397	154971670	1068	15367											
MYLIP	29116	broad.mit.edu	37	chr6	16145537	16145537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctgtgagagctgcgccGcccagctacaggtaggggag	17	10	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:16145537G>A	uc003nbq.2	+	6	1474	c.1237G>A	c.(1237-1239)GCC>ACC	p.A413T	MYLIP_uc003nbr.2_Missense_Mutation_p.A232T	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting	413	RING-type.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			pancreas(1)	1	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GAGCTGCGCCGCCCAGCTACA	0.592													A	16145537	G	A	16145537	3	1	19	1	0	0	0	0	1	0	0	0	10055	1087	38	1	1259	1	MYLIP	6	16145537	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2140	16145537	154969530	1069	15368											
ATXN1	6310	broad.mit.edu	37	chr6	16328417	16328417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccgggagccatgctgtgCcctccacccggtggttgtcg	14	15	0	0	rs146653003	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:16328417C>T	uc003nbt.2	-	8	1096	c.125G>A	c.(124-126)GGC>GAC	p.G42D	ATXN1_uc010jpi.2_Missense_Mutation_p.G42D|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	42					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCATGCTGTGCCCTCCACCCG	0.687													T	16328417	C	T	16328417	3	4	19	1	0	0	0	0	1	0	0	0	1209	739	26	2	2330	2	ATXN1	6	16328417	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	182880	16328417	154786650	1070	15369											
NUP153	9972	broad.mit.edu	37	chr6	17626217	17626217	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggattcagcagtgttAccaaaggcagagctgctcac	12	10	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:17626217A>G	uc003ncd.1	-	19	3923	c.3723T>C	c.(3721-3723)GGT>GGC	p.G1241G	NUP153_uc011dje.1_Silent_p.G1272G|NUP153_uc010jpl.1_Silent_p.G1199G	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	1241					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CAGCAGTGTTACCAAAGGCAG	0.488													G	17626217	A	G	17626217	2	3	19	1	0	0	0	0	0	0	0	1	10755	378	14	3		3	NUP153	6	17626217	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1297800	17626217	153488850	1071	15370											
KIF13A	63971	broad.mit.edu	37	chr6	17794613	17794613	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttcaccgtgacttgtactCtacgggaatgaccctgaaga	10	10	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:17794613C>A	uc003ncg.3	-	25	3194	c.3089G>T	c.(3088-3090)AGA>ATA	p.R1030I	KIF13A_uc003ncf.2_Missense_Mutation_p.R1030I|KIF13A_uc003nch.3_Missense_Mutation_p.R1030I|KIF13A_uc003nci.3_Missense_Mutation_p.R1030I	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1030					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GACTTGTACTCTACGGGAATG	0.493													A	17794613	C	A	17794613	3	1	19	1	0	0	0	0	1	0	0	0	8274	913	32	5	2413	5	KIF13A	6	17794613	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	168396	17794613	153320454	1072	15371											
CDKAL1	54901	broad.mit.edu	37	chr6	20846385	20846385	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atccaattgatgaactagtaGatagagccaaacaatctttt	6	7	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:20846385G>A	uc003ndc.1	+	9	892	c.718G>A	c.(718-720)GAT>AAT	p.D240N	CDKAL1_uc003ndd.1_Missense_Mutation_p.D240N|CDKAL1_uc003nde.1_Missense_Mutation_p.D170N	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein	240					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			ovary(2)	2	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TGAACTAGTAGATAGAGCCAA	0.323													A	20846385	G	A	20846385	3	1	19	1	0	0	0	0	1	0	0	0	3152	942	33	4	744	4	CDKAL1	6	20846385	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3051772	20846385	150268682	1073	15372											
HIST1H3B	8358	broad.mit.edu	37	chr6	26032005	26032005	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtaggcctcacaagccTcctgcagcgccatcaccgca	8	18	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:26032005T>C	uc003nfs.1	-	1	284	c.284A>G	c.(283-285)GAG>GGG	p.E95G		NM_003537	NP_003528	P68431	H31_HUMAN	histone cluster 1, H3b	95					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2						CTCACAAGCCTCCTGCAGCGC	0.557													C	26032005	T	C	26032005	3	2	19	1	0	0	0	0	1	0	0	0	7156	1551	54	3	130	3	HIST1H3B	6	26032005	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	5185620	26032005	145083062	1074	15373											
HIST1H1E	3008	broad.mit.edu	37	chr6	26157199	26157199	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagcgaaggccaaagcagTtaaacccaaggcggctaaac	10	13	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:26157199T>C	uc003ngq.2	+	1	641	c.581T>C	c.(580-582)GTT>GCT	p.V194A	HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	histone cluster 1, H1e	194					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			large_intestine(1)|ovary(1)	2						GCCAAAGCAGTTAAACCCAAG	0.552													C	26157199	T	C	26157199	3	2	19	1	0	0	0	0	1	0	0	0	7126	1725	60	3	583	3	HIST1H1E	6	26157199	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	125194	26157199	144957868	1075	15374											
HIST1H2BD	3017	broad.mit.edu	37	chr6	26158753	26158753	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcggagggcaccaaggccgTcaccaagtacaccagttcca	11	14	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:26158753T>A	uc003ngr.2	+	1	405	c.356T>A	c.(355-357)GTC>GAC	p.V119D	HIST1H2BD_uc003ngs.2_Missense_Mutation_p.V119D	NM_021063	NP_066407	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	119					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|pancreas(1)	2						ACCAAGGCCGTCACCAAGTAC	0.547													A	26158753	T	A	26158753	3	1	19	1	0	0	0	0	1	0	0	0	7143	1667	58	5	358	5	HIST1H2BD	6	26158753	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1554	26158753	144956314	1076	15375											
HIST1H3E	8353	broad.mit.edu	37	chr6	26225698	26225698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctacttggtggggcttttcGaggacaccaacctgtgcgct	12	12	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:26225698G>A	uc003nhb.2	+	2	676	c.316G>A	c.(316-318)GAG>AAG	p.E106K	HIST1H3E_uc003nhc.3_Missense_Mutation_p.E106K	NM_021018	NP_066298	P68431	H31_HUMAN	histone cluster 1, H3f	106					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GGGGCTTTTCGAGGACACCAA	0.587											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	26225698	G	A	26225698	3	1	19	1	0	0	0	0	1	0	0	0	7159	1059	37	1	318	1	HIST1H3E	6	26225698	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	66945	26225698	144889369	1077	15376											
BTN2A1	11120	broad.mit.edu	37	chr6	26468337	26468337	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctaggccgggagagcttcGcttcagggaaacattactgg	13	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:26468337G>T	uc003nib.1	+	8	1356	c.1144G>T	c.(1144-1146)GCT>TCT	p.A382S	BTN2A1_uc003nic.1_3'UTR|BTN2A1_uc003nid.1_Missense_Mutation_p.A230S|BTN2A1_uc011dko.1_Missense_Mutation_p.A321S|BTN2A1_uc010jqk.1_Missense_Mutation_p.A142S	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1 isoform 1	382	Cytoplasmic (Potential).|B30.2/SPRY.				lipid metabolic process	integral to plasma membrane				ovary(1)|skin(1)	2						GGAGAGCTTCGCTTCAGGGAA	0.562													T	26468337	G	T	26468337	3	4	19	1	0	0	0	0	1	0	0	0	1560	1087	38	5	1197	5	BTN2A1	6	26468337	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	242639	26468337	144646730	1078	15377											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114322	27114322	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgatggtcgagcgctTgttgtaatgcgccaggcggg	19	7	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:27114322T>C	uc003nix.1	-	1	298	c.256A>G	c.(256-258)AAG>GAG	p.K86E	HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank	NM_080593	NP_542160	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	86					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding				0						GTCGAGCGCTTGTTGTAATGC	0.632													C	27114322	T	C	27114322	3	2	19	1	0	0	0	0	1	0	0	0	7150	1821	63	3	128	3	HIST1H2BK	6	27114322	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	645985	27114322	144000745	1079	15378											
HIST1H2BL	8340	broad.mit.edu	37	chr6	27775413	27775413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtctggatctccctggagGtgatggtcgagcgcttgttg	16	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:27775413G>A	uc003njl.2	-	1	297	c.272C>T	c.(271-273)ACC>ATC	p.T91I	HIST1H3H_uc003njm.2_5'Flank	NM_003519	NP_003510	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	91					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CTCCCTGGAGGTGATGGTCGA	0.632													A	27775413	G	A	27775413	3	1	19	1	0	0	0	0	1	0	0	0	7151	1261	44	4	112	4	HIST1H2BL	6	27775413	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	661091	27775413	143339654	1080	15379											
HIST1H1B	3009	broad.mit.edu	37	chr6	27834749	27834749	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcttggcaggactcttggTtgcctttttcggtttggcag	15	8	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:27834749T>C	uc003njx.2	-	1	611	c.559A>G	c.(559-561)ACC>GCC	p.T187A		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	187					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						GGACTCTTGGTTGCCTTTTTC	0.572													C	27834749	T	C	27834749	3	2	19	1	0	0	0	0	1	0	0	0	7123	1725	60	3	125	3	HIST1H1B	6	27834749	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	59336	27834749	143280318	1081	15380											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28213206	28213206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggagatgtgaattccgCctaaaggctttgccacacat	9	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:28213206C>T	uc003nks.1	-	5	1570	c.1326G>A	c.(1324-1326)AGG>AGA	p.R442R	ZKSCAN4_uc011dlb.1_Silent_p.R287R	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	442	C2H2-type 5.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						GTGAATTCCGCCTAAAGGCTT	0.488													T	28213206	C	T	28213206	2	4	19	1	0	0	0	0	0	0	0	1	17686	738	26	2		2	ZKSCAN4	6	28213206	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	378457	28213206	142901861	1082	15381											
ZNF311	282890	broad.mit.edu	37	chr6	28964094	28964094	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actatgttttgagtttggatTcaagtttttactaagcactt	7	5	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:28964094T>C	uc003nlu.2	-	7	1198	c.685A>G	c.(685-687)AAT>GAT	p.N229D	ZNF311_uc011dlk.1_Missense_Mutation_p.N137D|ZNF311_uc003nlv.2_Missense_Mutation_p.N137D	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						GAGTTTGGATTCAAGTTTTTA	0.388													C	28964094	T	C	28964094	3	2	19	1	0	0	0	0	1	0	0	0	17831	1783	62	3	1319	3	ZNF311	6	28964094	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	750888	28964094	142150973	1083	15382											
HLA-F	3134	broad.mit.edu	37	chr6	29692222	29692222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggagacgctacagcgcGcaggtaccaggggccatggg	18	10	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:29692222G>A	uc010jrl.2	+	3	731	c.607G>A	c.(607-609)GCA>ACA	p.A203T	HLA-F_uc003nnm.3_Missense_Mutation_p.A203T|HLA-F_uc003nno.3_Missense_Mutation_p.A203T|HLA-F_uc011dlx.1_Missense_Mutation_p.A203T|HLA-F_uc011dly.1_RNA	NM_018950	NP_061823	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	203	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						GCTACAGCGCGCAGGTACCAG	0.577													A	29692222	G	A	29692222	3	1	19	1	0	0	0	0	1	0	0	0	7211	1087	38	1	617	1	HLA-F	6	29692222	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	728128	29692222	141422845	1084	15383											
HLA-A	3105	broad.mit.edu	37	chr6	29911191	29911191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccgcggcggacatggcgGctcagatcaccaagcgcaag	15	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:29911191G>A	uc003nol.2	+	3	490	c.490G>A	c.(490-492)GCT>ACT	p.A164T	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_RNA|HLA-A_uc010jrq.2_Missense_Mutation_p.A43T|HLA-A_uc003nok.2_Missense_Mutation_p.A43T|HLA-A_uc003non.2_Missense_Mutation_p.A164T|HLA-A_uc003noo.2_Missense_Mutation_p.A164T|HLA-A_uc010jrr.2_Missense_Mutation_p.A164T|HLA-A_uc003nom.2_Missense_Mutation_p.A43T|HLA-A_uc010klp.2_Missense_Mutation_p.A136T|HLA-A_uc011dmc.1_Missense_Mutation_p.A43T|HLA-A_uc011dmd.1_Missense_Mutation_p.A43T	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	164	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						GGACATGGCGGCTCAGATCAC	0.662									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			A	29911191	G	A	29911191	3	1	19	1	0	0	0	0	1	0	0	0	7195	1203	42	2	500	2	HLA-A	6	29911191	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	218969	29911191	141203876	1085	15384											
KIAA1949	170954	broad.mit.edu	37	chr6	30652406	30652406	+	Frame_Shift_Del	DEL	C	C	-													gtgtccactgcggcggggggCccccacccctggccctgcct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:30652406delC	uc003nra.2	-	2	1621	c.1390delG	c.(1390-1392)GCCfs	p.A464fs	KIAA1949_uc003nrb.3_Frame_Shift_Del_p.A464fs	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN	phostensin	464						cytoplasm|cytoskeleton	actin binding				0						CGGCGGGGGGCCCCCACCCCT	0.547													-	30652406	C	-	30652406	7	5	19	1	0	1	0	1	0	0	0	0	8263	739	26	0	463	0	KIAA1949	6	30652406	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	741215	30652406	140462661	1086	15385											
HLA-C	3107	broad.mit.edu	37	chr6	31239472	31239472	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtctcccggtcccaatActccggcccctcctgctcca	7	20	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:31239472A>G	uc003nsy.2	-	2	254	c.247T>C	c.(247-249)TAT>CAT	p.Y83H	HLA-C_uc011dnj.1_Missense_Mutation_p.Y55H|HLA-C_uc003nsx.2_5'UTR|HLA-C_uc003nsz.2_Missense_Mutation_p.Y83H|HLA-C_uc010jsl.2_Missense_Mutation_p.Y83H|HLA-C_uc003nta.2_Missense_Mutation_p.Y83H|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_5'UTR|HLA-B_uc003ntf.2_Intron	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	83	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex					0						CGGTCCCAATACTCCGGCCCC	0.677													G	31239472	A	G	31239472	3	3	19	1	0	0	0	0	1	0	0	0	7197	391	14	3	881	3	HLA-C	6	31239472	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	587066	31239472	139875595	1087	15386											
HLA-B	3106	broad.mit.edu	37	chr6	31324192	31324192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccggccccacgtcgcagCcgtacatgctctggagggtg	14	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:31324192C>T	uc003nth.2	-	3	425	c.371G>A	c.(370-372)GGC>GAC	p.G124D	HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Missense_Mutation_p.G3D|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_5'Flank|HLA-B_uc010jso.2_Missense_Mutation_p.G96D	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	124	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0						CACGTCGCAGCCGTACATGCT	0.721									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				T	31324192	C	T	31324192	3	4	19	1	0	0	0	0	1	0	0	0	7196	739	26	2	737	2	HLA-B	6	31324192	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	84720	31324192	139790875	1088	15387											
BAT2	7916	broad.mit.edu	37	chr6	31599957	31599957	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagaggggtgccatctcgCcggggccgaggaggagggag	20	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:31599957C>T	uc003nvb.3	+	16	3756	c.3507C>T	c.(3505-3507)CGC>CGT	p.R1169R	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Silent_p.R1169R	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1169	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						TGCCATCTCGCCGGGGCCGAG	0.687													T	31599957	C	T	31599957	2	4	19	1	0	0	0	0	0	0	0	1	1319	726	26	2		2	BAT2	6	31599957	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	275765	31599957	139515110	1089	15388											
GPSM3	63940	broad.mit.edu	37	chr6	32160025	32160026	+	Frame_Shift_Ins	INS	-	-	A													cttcctcatcctgaggggggINSccctgatgccaaaatatgtc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:32160025_32160026insA	uc003oay.3	-	2	437_438	c.44_45insT	c.(43-45)GGCfs	p.G15fs	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.2_5'Flank|GPSM3_uc003oax.3_Frame_Shift_Ins_p.A5fs|GPSM3_uc003oaz.2_Frame_Shift_Ins_p.G15fs	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3 (AGS3-like, C.	15					signal transduction	cytoplasm	GTPase activator activity|protein binding				0						CCTGAGGGGGGCCCTGATGCCA	0.619													A	32160026	-	A	32160025	7	5	19	1	0	1	1	0	0	0	0	0	6736	1190	42	0	449	0	GPSM3	6	32160025	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	560068	32160025	138955042	1090	15389	52	2									
GPSM3	63940	broad.mit.edu	37	chr6	32160026	32160027	+	Splice_Site	INS	-	-	A													ttcctcatcctgaggggggcINScctgatgccaaaatatgtcc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:32160025_32160026G>GA	uc003oay.4	-	2	445	c.43_splice	c.e2-1	p.G15_splice	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.3_5'Flank|GPSM3_uc003oaz.3_Splice_Site_p.G15_splice	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	Homo sapiens G-protein signaling modulator 3 (GPSM3), mRNA.	15					signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						CCTGAGGGGGGCCCTGATGCCA	0.619													A	32160027	-	A	32160026	8	5	19	1	0	1	1	0	0	0	1	0	6736	753	26	0	450	0	GPSM3	6	32160026	Splice_Site	INS	-	TCGA-BR-4361-01A-01D-1158-08	1	32160026	138955041	1091	15390	52	2									
HLA-DQA2	3118	broad.mit.edu	37	chr6	32713800	32713800	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctgatgagatttatgaCtgcaaggtggagcactgggg	15	6	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:32713800C>T	uc003obx.2	+	3	622	c.564C>T	c.(562-564)GAC>GAT	p.D188D		NM_020056	NP_064440	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ	188	Alpha-2.|Extracellular (Potential).|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGATTTATGACTGCAAGGTGG	0.478													T	32713800	C	T	32713800	2	4	19	1	0	0	0	0	0	0	0	1	7205	564	20	4		4	HLA-DQA2	6	32713800	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	553774	32713800	138401267	1092	15391											
TAP2	6891	broad.mit.edu	37	chr6	32803014	32803014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagggtgagtcgaggcgataTgctgagcatgaagccataca	15	7	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:32803014T>C	uc003occ.2	-	4	893	c.862A>G	c.(862-864)ATA>GTA	p.I288V	TAP2_uc011dqf.1_Missense_Mutation_p.I288V|TAP2_uc003ocb.1_Missense_Mutation_p.I288V|TAP2_uc003ocd.2_Missense_Mutation_p.I288V	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	288	Lumenal (Potential).|ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						CGAGGCGATATGCTGAGCATG	0.532													C	32803014	T	C	32803014	3	2	19	1	0	0	0	0	1	0	0	0	15548	1464	51	3	1315	3	TAP2	6	32803014	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	89214	32803014	138312053	1093	15392											
TAP2	6891	broad.mit.edu	37	chr6	32805593	32805593	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggagagcttcagcagccTccacatcaagactttgttgt	9	12	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:32805593T>C	uc003occ.2	-	1	449	c.418A>G	c.(418-420)AGG>GGG	p.R140G	TAP2_uc011dqf.1_Missense_Mutation_p.R140G|TAP2_uc003ocb.1_Missense_Mutation_p.R140G|TAP2_uc003ocd.2_Missense_Mutation_p.R140G	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	140	Cytoplasmic (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						TTCAGCAGCCTCCACATCAAG	0.602													C	32805593	T	C	32805593	3	2	19	1	0	0	0	0	1	0	0	0	15548	1550	54	3	1771	3	TAP2	6	32805593	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2579	32805593	138309474	1094	15393											
TAP2	6891	broad.mit.edu	37	chr6	32805788	32805788	+	Frame_Shift_Del	DEL	G	G	-													ggctctcagggagacagtcaGgggggtggccagacagagcg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:32805788delG	uc003occ.2	-	1	254	c.223delC	c.(223-225)CTGfs	p.L75fs	TAP2_uc011dqf.1_Frame_Shift_Del_p.L75fs|TAP2_uc003ocb.1_Frame_Shift_Del_p.L75fs|TAP2_uc003ocd.2_Frame_Shift_Del_p.L75fs	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	75	Helical; Name=2; (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						GAGACAGTCAGGGGGGTGGCC	0.692													-	32805788	G	-	32805788	7	5	19	1	0	1	0	1	0	0	0	0	15548	991	35	0	1966	0	TAP2	6	32805788	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	195	32805788	138309279	1095	15394											
PSMB8	5696	broad.mit.edu	37	chr6	32810470	32810470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcattccttggccagcaggCgctcccagtactgacagtct	10	14	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:32810470C>T	uc003oce.2	-	3	429	c.386G>A	c.(385-387)CGC>CAC	p.R129H	PSMB8_uc003ocf.2_Missense_Mutation_p.R125H|PSMB8_uc011dqh.1_3'UTR	NM_148919	NP_683720	P28062	PSB8_HUMAN	proteasome beta 8 subunit isoform E2 proprotein	129					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			skin(1)	1						GGCCAGCAGGCGCTCCCAGTA	0.517													T	32810470	C	T	32810470	3	4	19	1	0	0	0	0	1	0	0	0	12683	768	27	1	460	1	PSMB8	6	32810470	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	4682	32810470	138304597	1096	15395											
DAXX	1616	broad.mit.edu	37	chr6	33287839	33287839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcatcatcctcctgaccctCctgcatctgttccagatcct	4	17	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:33287839C>T	uc003oec.2	-	5	1618	c.1414G>A	c.(1414-1416)GAG>AAG	p.E472K	ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Missense_Mutation_p.E397K|DAXX_uc011dre.1_Missense_Mutation_p.E484K|DAXX_uc003oed.2_Missense_Mutation_p.E472K	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	472	Asp/Glu-rich (acidic).|Potential.|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						tcctgaccctcctgcatctgt	0.204			Mis|F|N		Pancreatic neuroendocrine tumors								T	33287839	C	T	33287839	3	4	19	1	0	0	0	0	1	0	0	0	4243	864	30	4	824	4	DAXX	6	33287839	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	477369	33287839	137827228	1097	15396											
FANCE	2178	broad.mit.edu	37	chr6	35423675	35423675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacccagatgcctggctcCgtgccctgggggaattgctg	14	13	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:35423675C>T	uc003oko.1	+	2	585	c.400C>T	c.(400-402)CGT>TGT	p.R134C	FANCE_uc010jvw.1_Missense_Mutation_p.R134C	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	134					DNA repair	nucleoplasm	protein binding			ovary(1)|lung(1)|skin(1)	3						TGCCTGGCTCCGTGCCCTGGG	0.617			N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				T	35423675	C	T	35423675	3	4	19	1	0	0	0	0	1	0	0	0	5666	652	23	1	406	1	FANCE	6	35423675	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2135836	35423675	135691392	1098	15397											
TULP1	7287	broad.mit.edu	37	chr6	35471339	35471339	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgcggggctcacattTcggggccggatggggaccct	19	10	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:35471339T>C	uc003okv.3	-	13	1332	c.1320A>G	c.(1318-1320)CGA>CGG	p.R440R	TULP1_uc003okw.3_Silent_p.R387R	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	440					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			ovary(2)|central_nervous_system(1)	3						GGCTCACATTTCGGGGCCGGA	0.622													C	35471339	T	C	35471339	2	2	19	1	0	0	0	0	0	0	0	1	16770	1770	62	3		3	TULP1	6	35471339	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	47664	35471339	135643728	1099	15398											
KCTD20	222658	broad.mit.edu	37	chr6	36454812	36454812	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccagtgtgttcgaagcaaaTccctcacgaatctggtagct	9	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:36454812T>A	uc003ome.2	+	8	1511	c.1120T>A	c.(1120-1122)TCC>ACC	p.S374T	KCTD20_uc011dtm.1_Missense_Mutation_p.S229T|KCTD20_uc011dtn.1_Missense_Mutation_p.S128T|KCTD20_uc010jwk.2_Missense_Mutation_p.S208T|KCTD20_uc011dto.1_Missense_Mutation_p.S128T	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerisation domain	374						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)	2						TCGAAGCAAATCCCTCACGAA	0.473													A	36454812	T	A	36454812	3	1	19	1	0	0	0	0	1	0	0	0	8108	1435	50	5	1146	5	KCTD20	6	36454812	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	983473	36454812	134660255	1100	15399											
CDKN1A	1026	broad.mit.edu	37	chr6	36651993	36651993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgactgtgatgcgctaatgGcgggctgcatccaggaggcc	16	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:36651993G>A	uc003omm.3	+	2	237	c.115G>A	c.(115-117)GCG>ACG	p.A39T	CDKN1A_uc011dtq.1_Missense_Mutation_p.A73T|CDKN1A_uc003oml.2_Missense_Mutation_p.A39T|CDKN1A_uc003omn.2_Missense_Mutation_p.A39T	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	39	C4-type (Potential).				cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						TGCGCTAATGGCGGGCTGCAT	0.657									Multiple_Endocrine_Neoplasia_type_1				A	36651993	G	A	36651993	3	1	19	1	0	0	0	0	1	0	0	0	3158	1203	42	2	117	2	CDKN1A	6	36651993	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	197181	36651993	134463074	1101	15400											
MTCH1	23787	broad.mit.edu	37	chr6	36946377	36946377	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcttaccatccacttgcacGatgtacttggctgtaagaaa	7	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:36946377G>A	uc003ond.1	-	3	417	c.417C>T	c.(415-417)ATC>ATT	p.I139I	MTCH1_uc003onc.1_Silent_p.I139I|MTCH1_uc010jwo.1_RNA|MTCH1_uc003one.3_Silent_p.I139I|MTCH1_uc011dtt.1_5'UTR	NM_014341	NP_055156	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier homolog 1	139	Solcar 1.				activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding				0						CCACTTGCACGATGTACTTGG	0.572													A	36946377	G	A	36946377	2	1	19	1	0	0	0	0	0	0	0	1	9913	1048	37	1		1	MTCH1	6	36946377	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	294384	36946377	134168690	1102	15401											
MDGA1	266727	broad.mit.edu	37	chr6	37623659	37623659	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctggtgcaccgtcagcatTggctcatccaggtctgcaag	12	12	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:37623659T>C	uc003onu.1	-	4	1575	c.396A>G	c.(394-396)CCA>CCG	p.P132P		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	132	Ig-like 2.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						CCGTCAGCATTGGCTCATCCA	0.622													C	37623659	T	C	37623659	2	2	19	1	0	0	0	0	0	0	0	1	9406	1799	63	3		3	MDGA1	6	37623659	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	677282	37623659	133491408	1103	15402											
GLO1	2739	broad.mit.edu	37	chr6	38650639	38650639	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggtctcatcatcttcAgtgccccaattgctacaaaa	6	13	5	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:38650639A>G	uc003ooc.2	-	4	443	c.321T>C	c.(319-321)ACT>ACC	p.T107T		NM_006708	NP_006699	Q04760	LGUL_HUMAN	glyoxalase I	107				T->A: Loss of phosphorylation.	anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			ovary(1)	1					Glutathione(DB00143)	CATCATCTTCAGTGCCCCAAT	0.383													G	38650639	A	G	38650639	2	3	19	1	0	0	0	0	0	0	0	1	6449	175	7	3		3	GLO1	6	38650639	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1026980	38650639	132464428	1104	15403											
DNAH8	1769	broad.mit.edu	37	chr6	38743627	38743627	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataaaattcagaaatatatAccaaggggttaagaaaaagc	7	4	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:38743627A>G	uc003ooe.1	+	11	1811	c.1211A>G	c.(1210-1212)TAC>TGC	p.Y404C		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						AGAAATATATACCAAGGGGTT	0.308													G	38743627	A	G	38743627	3	3	19	1	0	0	0	0	1	0	0	0	4607	391	14	3	1245	3	DNAH8	6	38743627	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	92988	38743627	132371440	1105	15404											
DNAH8	1769	broad.mit.edu	37	chr6	38816440	38816440	+	Frame_Shift_Del	DEL	A	A	-													ttagatacaatgctccatttAaaaaaaatatccagaattgg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:38816439_38816439TA>T	uc021yzh.1	+	36	5170	c.5061_5061TA>T	c.(5059-5061)tttfs	p.F1687fs	DNAH8_uc003ooe.2_Frame_Shift_Del_p.F1470fs	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGCTCCATTTAAAAAAAATA	0.343													-	38816440	A	-	38816440	7	5	19	1	0	1	0	1	0	0	0	0	4607	363	13	0	4541	0	DNAH8	6	38816440	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	72813	38816440	132298627	1106	15405											
DNAH8	1769	broad.mit.edu	37	chr6	38838249	38838249	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgcaactggatagtaatActtatgcagaactgcaaaac	8	8	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:38838249A>G	uc003ooe.1	+	47	6850	c.6250A>G	c.(6250-6252)ACT>GCT	p.T2084A		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GGATAGTAATACTTATGCAGA	0.423													G	38838249	A	G	38838249	3	3	19	1	0	0	0	0	1	0	0	0	4607	391	14	3	6428	3	DNAH8	6	38838249	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	21809	38838249	132276818	1107	15406											
DNAH8	1769	broad.mit.edu	37	chr6	38840893	38840893	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatggtctatatcagcagCtctgctctcagctggaggcc	12	12	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:38840893C>T	uc003ooe.1	+	49	7398	c.6798C>T	c.(6796-6798)AGC>AGT	p.S2266S		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						ATATCAGCAGCTCTGCTCTCA	0.498													T	38840893	C	T	38840893	2	4	19	1	0	0	0	0	0	0	0	1	4607	796	28	2		2	DNAH8	6	38840893	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2644	38840893	132274174	1108	15407											
DNAH8	1769	broad.mit.edu	37	chr6	38913267	38913267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagctctggacctgaaagCctgtcctcccaaaccctatc	7	16	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:38913267C>T	uc003ooe.1	+	78	11981	c.11381C>T	c.(11380-11382)GCC>GTC	p.A3794V	DNAH8_uc003oog.1_Missense_Mutation_p.A243V|uc003oof.1_Intron	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GACCTGAAAGCCTGTCCTCCC	0.458													T	38913267	C	T	38913267	3	4	19	1	0	0	0	0	1	0	0	0	4607	739	26	2	11683	2	DNAH8	6	38913267	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	72374	38913267	132201800	1109	15408											
LRFN2	57497	broad.mit.edu	37	chr6	40359769	40359769	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaaagggcaagagcatGccgttgacagagaggctgcg	14	10	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:40359769G>A	uc003oph.1	-	3	2748	c.2283C>T	c.(2281-2283)GGC>GGT	p.G761G		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	761	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAAGAGCATGCCGTTGACAG	0.647													A	40359769	G	A	40359769	2	1	19	1	0	0	0	0	0	0	0	1	8938	1306	46	2		2	LRFN2	6	40359769	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1446502	40359769	130755298	1110	15409											
LRFN2	57497	broad.mit.edu	37	chr6	40399694	40399694	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggggggtgcagtgcggcTggtgctgttgctgaggtgtg	21	6	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:40399694T>C	uc003oph.1	-	2	1624	c.1159A>G	c.(1159-1161)AGC>GGC	p.S387G		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	387	Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAGTGCGGCTGGTGCTGTTG	0.652													C	40399694	T	C	40399694	3	2	19	1	0	0	0	0	1	0	0	0	8938	1580	55	3	1218	3	LRFN2	6	40399694	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	39925	40399694	130715373	1111	15410											
UNC5CL	222643	broad.mit.edu	37	chr6	40996272	40996272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcagctcctgcaggctgCcgttctgctcctcaaacaac	9	15	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:40996272C>T	uc003opi.2	-	9	1486	c.1397G>A	c.(1396-1398)GGC>GAC	p.G466D		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	unc-5 homolog C-like	466	Death.|Cytoplasmic (Potential).				signal transduction	cytoplasm|integral to membrane				ovary(2)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTGCAGGCTGCCGTTCTGCTC	0.642											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	40996272	C	T	40996272	3	4	19	1	0	0	0	0	1	0	0	0	16991	739	26	2	163	2	UNC5CL	6	40996272	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	596578	40996272	130118795	1112	15411											
NCR2	9436	broad.mit.edu	37	chr6	41309564	41309564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagacctcctggactcccCgcgacctggtctcttcacag	8	18	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:41309564C>T	uc003oqh.2	+	3	514	c.427C>T	c.(427-429)CGC>TGC	p.R143C	NCR2_uc003oqi.2_Missense_Mutation_p.R143C|NCR2_uc003oqj.2_Missense_Mutation_p.R143C	NM_004828	NP_004819	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	143	Extracellular (Potential).				cellular defense response	integral to plasma membrane	transmembrane receptor activity			ovary(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					CTGGACTCCCCGCGACCTGGT	0.622													T	41309564	C	T	41309564	3	4	19	1	0	0	0	0	1	0	0	0	10238	652	23	1	437	1	NCR2	6	41309564	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	313292	41309564	129805503	1113	15412											
TRERF1	55809	broad.mit.edu	37	chr6	42231112	42231112	+	Frame_Shift_Del	DEL	G	G	-													gctggcttgtctctggcggaGggggcggcaacggtgctgtt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:42231111_42231111AG>A	uc003ose.2	-	7	2394	c.1831_1831CT>T	c.(1831-1833)tccfs	p.S611fs	TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Frame_Shift_Del_p.S611fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	611	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.S611S(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTCTGGCGGAGGGGGCGGCA	0.647													-	42231112	G	-	42231112	7	5	19	1	0	1	0	1	0	0	0	0	16472	987	35	0	1816	0	TRERF1	6	42231112	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	921548	42231112	128883955	1114	15413											
KIAA0240	23506	broad.mit.edu	37	chr6	42797264	42797264	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccaacctcacgcaccccAaagtcagttccttataccta	6	16	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:42797264A>G	uc003osn.1	+	6	1344	c.1193A>G	c.(1192-1194)CAA>CGA	p.Q398R	KIAA0240_uc003osm.1_Missense_Mutation_p.Q398R|KIAA0240_uc011duw.1_Missense_Mutation_p.Q398R|KIAA0240_uc003oso.1_Missense_Mutation_p.Q398R|KIAA0240_uc003osp.1_Missense_Mutation_p.Q398R	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	398										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			CACGCACCCCAAAGTCAGTTC	0.498													G	42797264	A	G	42797264	3	3	19	1	0	0	0	0	1	0	0	0	8164	130	5	3	1207	3	KIAA0240	6	42797264	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	566152	42797264	128317803	1115	15414											
KIAA0240	23506	broad.mit.edu	37	chr6	42797872	42797872	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaccagcaccttcagtaacAcacctggaacaggaacccag	7	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:42797872A>G	uc003osn.1	+	6	1952	c.1801A>G	c.(1801-1803)ACA>GCA	p.T601A	KIAA0240_uc003osm.1_Missense_Mutation_p.T601A|KIAA0240_uc011duw.1_Missense_Mutation_p.T601A|KIAA0240_uc003oso.1_Missense_Mutation_p.T601A|KIAA0240_uc003osp.1_Missense_Mutation_p.T601A	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	601										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			CTTCAGTAACACACCTGGAAC	0.443													G	42797872	A	G	42797872	3	3	19	1	0	0	0	0	1	0	0	0	8164	159	6	3	1815	3	KIAA0240	6	42797872	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	608	42797872	128317195	1116	15415											
KLHDC3	116138	broad.mit.edu	37	chr6	42986446	42986446	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacttccatgacctctggaAgtttaatcctggtaaagagc	9	10	1	2	rs145827595		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:42986446A>C	uc003otl.2	+	7	978	c.809A>C	c.(808-810)AAG>ACG	p.K270T	C6orf153_uc003otp.1_5'Flank|KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Missense_Mutation_p.K246T|KLHDC3_uc003otn.2_Missense_Mutation_p.K154T|KLHDC3_uc003oto.2_Missense_Mutation_p.K211T	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	270	Kelch 5.				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			upper_aerodigestive_tract(1)	1			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GACCTCTGGAAGTTTAATCCT	0.498													C	42986446	A	C	42986446	3	2	19	1	0	0	0	0	1	0	0	0	8357	72	3	5	831	5	KLHDC3	6	42986446	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	188574	42986446	128128621	1117	15416											
CUL9	23113	broad.mit.edu	37	chr6	43155501	43155501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgtccgtggaaatggcCgagagtctgctgcaggttct	14	9	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:43155501C>T	uc003ouk.2	+	7	1707	c.1632C>T	c.(1630-1632)GCC>GCT	p.A544A	CUL9_uc003ouj.1_Silent_p.A434A|CUL9_uc003oul.2_Silent_p.A544A|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Silent_p.A2A	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	544					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						TGGAAATGGCCGAGAGTCTGC	0.507													T	43155501	C	T	43155501	2	4	19	1	0	0	0	0	0	0	0	1	4061	639	23	1		1	CUL9	6	43155501	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	169055	43155501	127959566	1118	15417											
ZNF318	24149	broad.mit.edu	37	chr6	43305768	43305768	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgctttctattgtcactgTtaactctggatggacatctt	7	9	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:43305768T>C	uc003oux.2	-	10	6046	c.5968A>G	c.(5968-5970)ACA>GCA	p.T1990A	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1990					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ATTGTCACTGTTAACTCTGGA	0.483													C	43305768	T	C	43305768	3	2	19	1	0	0	0	0	1	0	0	0	17833	1725	60	3	875	3	ZNF318	6	43305768	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	150267	43305768	127809299	1119	15418											
ZNF318	24149	broad.mit.edu	37	chr6	43305890	43305890	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcatagatctttttaactTgaaagtcttttgatctttct	4	7	5	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:43305890T>C	uc003oux.2	-	10	5924	c.5846A>G	c.(5845-5847)CAA>CGA	p.Q1949R	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1949					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTTTTAACTTGAAAGTCTTT	0.433													C	43305890	T	C	43305890	3	2	19	1	0	0	0	0	1	0	0	0	17833	1812	63	3	997	3	ZNF318	6	43305890	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	122	43305890	127809177	1120	15419											
CDC5L	988	broad.mit.edu	37	chr6	44413480	44413480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgggggttaccagtctcGtgctatggggctcatgaaac	14	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:44413480G>A	uc003oxl.2	+	15	2439	c.2180G>A	c.(2179-2181)CGT>CAT	p.R727H		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	727	Interaction with PLRG1.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TACCAGTCTCGTGCTATGGGG	0.448													A	44413480	G	A	44413480	3	1	19	1	0	0	0	0	1	0	0	0	3082	1145	40	1	2238	1	CDC5L	6	44413480	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1107590	44413480	126701587	1121	15420											
ENPP4	22875	broad.mit.edu	37	chr6	46107942	46107942	+	Frame_Shift_Del	DEL	A	A	-													aaaacatgagcagagtgttgAaaaaaatagatgatcttatc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:46107941_46107941GA>G	uc003oxy.3	+	1	880	c.621_621GA>G	c.(619-621)ttgfs	p.L207fs		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	207						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GCAGAGTGTTGAAAAAAATAG	0.403													-	46107942	A	-	46107942	7	5	19	1	0	1	0	1	0	0	0	0	5132	247	9	0	624	0	ENPP4	6	46107942	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	1694462	46107942	125007125	1122	15421											
MEP1A	4224	broad.mit.edu	37	chr6	46800870	46800870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaaagaggaacagaagtttCgctaccttttccagggcaca	9	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:46800870C>T	uc010jzh.1	+	11	1246	c.1204C>T	c.(1204-1206)CGC>TGC	p.R402C	MEP1A_uc011dwg.1_Missense_Mutation_p.R124C|MEP1A_uc011dwh.1_Missense_Mutation_p.R430C|MEP1A_uc011dwi.1_Missense_Mutation_p.R302C	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	402	Extracellular (Potential).|MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)			ACAGAAGTTTCGCTACCTTTT	0.483													T	46800870	C	T	46800870	3	4	19	1	0	0	0	0	1	0	0	0	9475	884	31	1	1246	1	MEP1A	6	46800870	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	692928	46800870	124314197	1123	15422											
GPR116	221395	broad.mit.edu	37	chr6	46836655	46836655	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgaggtcttgactgtcagtActgattctgctccatcaaga	9	10	4	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:46836655A>G	uc003oyo.3	-	12	1875	c.1586T>C	c.(1585-1587)GTA>GCA	p.V529A	GPR116_uc011dwj.1_Missense_Mutation_p.V84A|GPR116_uc011dwk.1_5'UTR|GPR116_uc003oyp.3_Missense_Mutation_p.V387A|GPR116_uc003oyq.3_Missense_Mutation_p.V529A|GPR116_uc010jzi.1_Missense_Mutation_p.V201A	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	529	Ig-like 3.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			GACTGTCAGTACTGATTCTGC	0.428													G	46836655	A	G	46836655	3	3	19	1	0	0	0	0	1	0	0	0	6633	391	14	3	2494	3	GPR116	6	46836655	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	35785	46836655	124278412	1124	15423											
GPR115	221393	broad.mit.edu	37	chr6	47682443	47682443	+	Frame_Shift_Del	DEL	T	T	-													actttttctacctctctctgTttttctggatgctcttcaaa							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:47682443delT	uc003oza.1	+	6	1720	c.1462delT	c.(1462-1464)TTTfs	p.F488fs	GPR115_uc003oyz.1_Frame_Shift_Del_p.F545fs|GPR115_uc003ozb.1_Frame_Shift_Del_p.F486fs	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115 precursor	488	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						CCTCTCTCTGTTTTTCTGGAT	0.408													-	47682443	T	-	47682443	7	5	19	1	0	1	0	1	0	0	0	0	6632	1725	60	0	1480	0	GPR115	6	47682443	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	845788	47682443	123432624	1125	15424											
LRRC1	55227	broad.mit.edu	37	chr6	53785559	53785559	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgaagaagacaatgagacGgtatggaaatgcagattctt	12	4	1	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:53785559G>T	uc003pcd.1	+	13	1693	c.1416G>T	c.(1414-1416)ACG>ACT	p.T472T		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	472						cytoplasm|membrane				ovary(1)	1	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		ACAATGAGACGGTATGGAAAT	0.388													T	53785559	G	T	53785559	2	4	19	1	0	0	0	0	0	0	0	1	8966	1130	39	5		5	LRRC1	6	53785559	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	6103116	53785559	117329508	1126	15425											
HCRTR2	3062	broad.mit.edu	37	chr6	55147129	55147129	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgaactagcacagagagccgGaagtccttgaccactcaaat	9	12	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:55147129G>A	uc003pcl.2	+	7	1527	c.1212G>A	c.(1210-1212)CGG>CGA	p.R404R	HCRTR2_uc010jzv.2_RNA	NM_001526	NP_001517	O43614	OX2R_HUMAN	orexin receptor 2	404	Cytoplasmic (Potential).				feeding behavior	integral to plasma membrane	neuropeptide receptor activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAGAGAGCCGGAAGTCCTTGA	0.488													A	55147129	G	A	55147129	2	1	19	1	0	0	0	0	0	0	0	1	7002	1161	41	4		4	HCRTR2	6	55147129	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1361570	55147129	115967938	1127	15426											
GFRAL	389400	broad.mit.edu	37	chr6	55214923	55214923	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggataaattcaaatggaatcTaactacacgttcccatcatg	6	9	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:55214923T>C	uc003pcm.1	+	4	436	c.350T>C	c.(349-351)CTA>CCA	p.L117P		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like precursor	117	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)	2	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAATGGAATCTAACTACACGT	0.303													C	55214923	T	C	55214923	3	2	19	1	0	0	0	0	1	0	0	0	6351	1522	53	3	364	3	GFRAL	6	55214923	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	67794	55214923	115900144	1128	15427											
BAG2	9532	broad.mit.edu	37	chr6	57048631	57048631	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgggaagaactctcacCgttgaagtgtcagtagaaac	11	7	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:57048631C>T	uc003pdr.2	+	3	671	c.279C>T	c.(277-279)ACC>ACT	p.T93T	BAG2_uc011dxo.1_Silent_p.T60T	NM_004282	NP_004273	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	93					apoptosis|protein folding		protein binding				0	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GAACTCTCACCGTTGAAGTGT	0.378													T	57048631	C	T	57048631	2	4	19	1	0	0	0	0	0	0	0	1	1287	639	23	1		1	BAG2	6	57048631	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1833708	57048631	114066436	1129	15428											
OGFRL1	79627	broad.mit.edu	37	chr6	72011356	72011356	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcctcgaaaagaacagtcGgagggaagcaaagcccagaa	12	11	0	2	rs143683047		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:72011356G>A	uc003pfx.1	+	7	1123	c.960G>A	c.(958-960)TCG>TCA	p.S320S		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	320						membrane	receptor activity				0						AAGAACAGTCGGAGGGAAGCA	0.483													A	72011356	G	A	72011356	2	1	19	1	0	0	0	0	0	0	0	1	10844	1103	39	1		1	OGFRL1	6	72011356	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	14962725	72011356	99103711	1130	15429											
C6orf221	154288	broad.mit.edu	37	chr6	74072843	74072843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggagaacgcatcccgcaCgtccagggtatgtcccaaat	12	13	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:74072843C>T	uc003pgt.3	+	2	248	c.195C>T	c.(193-195)CAC>CAT	p.H65H		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	hypothetical protein LOC154288	65	KH; atypical.									skin(2)	2						GCATCCCGCACGTCCAGGGTA	0.612													T	74072843	C	T	74072843	2	4	19	1	0	0	0	0	0	0	0	1	2355	535	19	1		1	C6orf221	6	74072843	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2061487	74072843	97042224	1131	15430											
C6orf150	115004	broad.mit.edu	37	chr6	74138431	74138431	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaacaaaataaggctgttaCctgcaacatttctcttcttt	4	9	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:74138431C>A	uc003pgx.1	-	4	1356	c.1217_splice	c.e4+1	p.R406_splice		NM_138441	NP_612450	Q8N884	M21D1_HUMAN	hypothetical protein LOC115004												0						AAGGCTGTTACCTGCAACATT	0.318													A	74138431	C	A	74138431	5	1	19	1	0	0	0	0	0	0	1	0	2337	521	18	5	358	5	C6orf150	6	74138431	Splice_Site	SNP	C	TCGA-BR-4361-01A-01D-1158-08	65588	74138431	96976636	1132	15431											
MTO1	25821	broad.mit.edu	37	chr6	74171709	74171709	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgatagtcattggtggAggacatgccgggactgaggc	17	7	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:74171709A>G	uc003pgy.3	+	1	256	c.132A>G	c.(130-132)GGA>GGG	p.G44G	MTO1_uc010kav.2_Silent_p.G44G|MTO1_uc003pgz.3_Silent_p.G44G|MTO1_uc003pha.3_5'UTR|MTO1_uc003phb.3_Intron|MTO1_uc003phc.1_5'Flank	NM_133645	NP_598400	Q9Y2Z2	MTO1_HUMAN	mitochondrial translation optimization 1 homolog	44	FAD (By similarity).				tRNA processing	mitochondrion	flavin adenine dinucleotide binding			ovary(3)|skin(2)|pancreas(1)	6						TCATTGGTGGAGGACATGCCG	0.652													G	74171709	A	G	74171709	2	3	19	1	0	0	0	0	0	0	0	1	9953	291	11	3		3	MTO1	6	74171709	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	33278	74171709	96943358	1133	15432											
CD109	135228	broad.mit.edu	37	chr6	74517820	74517820	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaagcctaacattgatgtGcaagagtctatccatttttt	6	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:74517820G>A	uc003php.2	+	26	3629	c.3204G>A	c.(3202-3204)GTG>GTA	p.V1068V	CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Silent_p.V1068V|CD109_uc010kba.2_Silent_p.V991V	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	1068						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						ACATTGATGTGCAAGAGTCTA	0.343													A	74517820	G	A	74517820	2	1	19	1	0	0	0	0	0	0	0	1	2963	1306	46	2		2	CD109	6	74517820	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	346111	74517820	96597247	1134	15433											
COL12A1	1303	broad.mit.edu	37	chr6	75798835	75798835	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacctacctggggggccaggCagcccccgaggtcctgaaga	14	14	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:75798835C>A	uc003phs.2	-	64	9163	c.8997G>T	c.(8995-8997)CTG>CTT	p.L2999L	COL12A1_uc003pht.2_Silent_p.L1835L	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2999	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GGGGGCCAGGCAGCCCCCGAG	0.488													A	75798835	C	A	75798835	2	1	19	1	0	0	0	0	0	0	0	1	3669	697	25	5		5	COL12A1	6	75798835	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1281015	75798835	95316232	1135	15434											
COL12A1	1303	broad.mit.edu	37	chr6	75857443	75857443	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattcatcttctaccacagaAtacacattgacaacatattc	2	11	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:75857443A>G	uc003phs.2	-	23	4531	c.4365T>C	c.(4363-4365)TAT>TAC	p.Y1455Y	COL12A1_uc003pht.2_Silent_p.Y291Y	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1455	Fibronectin type-III 9.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CTACCACAGAATACACATTGA	0.363													G	75857443	A	G	75857443	2	3	19	1	0	0	0	0	0	0	0	1	3669	108	4	3		3	COL12A1	6	75857443	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	58608	75857443	95257624	1136	15435											
COL12A1	1303	broad.mit.edu	37	chr6	75875374	75875374	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctctccagtgtcaacatcAtcataaagtgatttccatga	5	10	4	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:75875374A>G	uc003phs.2	-	14	2998	c.2832T>C	c.(2830-2832)GAT>GAC	p.D944D	COL12A1_uc003pht.2_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	944	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TGTCAACATCATCATAAAGTG	0.408													G	75875374	A	G	75875374	2	3	19	1	0	0	0	0	0	0	0	1	3669	214	8	3		3	COL12A1	6	75875374	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	17931	75875374	95239693	1137	15436											
PHIP	55023	broad.mit.edu	37	chr6	79726343	79726343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatacgtgctgtcccatcacGactgccacttacaaacctgt	6	14	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:79726343G>A	uc003pir.2	-	13	1379	c.1153C>T	c.(1153-1155)CGT>TGT	p.R385C	PHIP_uc011dyp.1_Missense_Mutation_p.R385C	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	385	WD 5.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GTCCCATCACGACTGCCACTT	0.403													A	79726343	G	A	79726343	3	1	19	1	0	0	0	0	1	0	0	0	11842	1058	37	1	4424	1	PHIP	6	79726343	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3850969	79726343	91388724	1138	15437											
SH3BGRL2	83699	broad.mit.edu	37	chr6	80406276	80406276	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgaaaccacggttggcAtcaaaggtaggtaaatcttt	11	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:80406276A>G	uc003piz.1	+	3	485	c.306A>G	c.(304-306)GCA>GCG	p.A102A		NM_031469	NP_113657	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamic acid-rich protein	102						nucleus	SH3 domain binding				0		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		CACGGTTGGCATCAAAGGTAG	0.333													G	80406276	A	G	80406276	2	3	19	1	0	0	0	0	0	0	0	1	14242	204	8	3		3	SH3BGRL2	6	80406276	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	679933	80406276	90708791	1139	15438											
BCKDHB	594	broad.mit.edu	37	chr6	80881074	80881075	+	Frame_Shift_Ins	INS	-	-	T													ggataaaaatccttgtatatINStttttgaacctaaaatactt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:80881073_80881074A>AT	uc003pjd.2	+	5	775_776	c.708_709A>AT	c.(706-711)atatttfs	p.I236fs	BCKDHB_uc003pje.2_Frame_Shift_Ins_p.I236fs	NM_000056	NP_898871	P21953	ODBB_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	236					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		ATCCTTGTATATTTTTTGAACC	0.307													T	80881075	-	T	80881074	7	5	19	1	0	1	1	0	0	0	0	0	1360	1493	52	0	731	0	BCKDHB	6	80881074	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	474798	80881074	90233993	1140	15439											
TPBG	7162	broad.mit.edu	37	chr6	83075864	83075864	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatgcctgcagggatcacAtggaagggtatcattacaga	13	7	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:83075864A>G	uc003pjn.3	+	3	2122	c.1186A>G	c.(1186-1188)ATG>GTG	p.M396V	TPBG_uc010kbj.2_Missense_Mutation_p.M396V|TPBG_uc003pjo.2_Missense_Mutation_p.M396V	NM_006670	NP_006661	Q13641	TPBG_HUMAN	trophoblast glycoprotein precursor	396	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(1)	1		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CAGGGATCACATGGAAGGGTA	0.433													G	83075864	A	G	83075864	3	3	19	1	0	0	0	0	1	0	0	0	16391	217	8	3	1188	3	TPBG	6	83075864	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2194790	83075864	88039203	1141	15440											
DOPEY1	23033	broad.mit.edu	37	chr6	83838791	83838791	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcccaattggtagcacatcCtctgagacagaaacagcatc	7	12	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:83838791C>A	uc003pjs.1	+	16	2165	c.1905C>A	c.(1903-1905)TCC>TCA	p.S635S	DOPEY1_uc011dyy.1_Silent_p.S626S|DOPEY1_uc010kbl.1_Silent_p.S626S	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	635					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GTAGCACATCCTCTGAGACAG	0.502													A	83838791	C	A	83838791	2	1	19	1	0	0	0	0	0	0	0	1	4707	668	24	5		5	DOPEY1	6	83838791	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	762927	83838791	87276276	1142	15441											
PGM3	5238	broad.mit.edu	37	chr6	83891632	83891632	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaccttaagtgatctgtattCatctccactgcaagaagcct	6	11	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:83891632C>T	uc003pjv.2	-	6	650	c.610G>A	c.(610-612)GAA>AAA	p.E204K	PGM3_uc003pjw.2_Missense_Mutation_p.E123K|PGM3_uc011dyz.1_Missense_Mutation_p.E232K	NM_015599	NP_056414	O95394	AGM1_HUMAN	phosphoglucomutase 3	204					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GATCTGTATTCATCTCCACTG	0.383													T	83891632	C	T	83891632	3	4	19	1	0	0	0	0	1	0	0	0	11800	835	29	4	1050	4	PGM3	6	83891632	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	52841	83891632	87223435	1143	15442											
RWDD2A	112611	broad.mit.edu	37	chr6	83905673	83905673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagatgtgactggattttgCatgacaggaaagcctggtat	12	5	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:83905673C>T	uc003pjx.3	+	3	832	c.561C>T	c.(559-561)TGC>TGT	p.C187C	PGM3_uc003pjv.2_5'Flank|PGM3_uc003pjw.2_5'Flank|PGM3_uc011dyz.1_5'Flank|RWDD2A_uc011dza.1_Silent_p.C112C	NM_033411	NP_219479	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	187											0		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		CTGGATTTTGCATGACAGGAA	0.433													T	83905673	C	T	83905673	2	4	19	1	0	0	0	0	0	0	0	1	13755	718	25	2		2	RWDD2A	6	83905673	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	14041	83905673	87209394	1144	15443											
ME1	4199	broad.mit.edu	37	chr6	83926226	83926226	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggttttaccttttctgcAattttcagagaaacatctct	6	8	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:83926226A>G	uc003pjy.2	-	13	1645	c.1539T>C	c.(1537-1539)ATT>ATC	p.I513I	ME1_uc011dzb.1_Silent_p.I438I|ME1_uc011dzc.1_Silent_p.I347I	NM_002395	NP_002386	P48163	MAOX_HUMAN	cytosolic malic enzyme 1	513					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	CCTTTTCTGCAATTTTCAGAG	0.328													G	83926226	A	G	83926226	2	3	19	1	0	0	0	0	0	0	0	1	9417	126	5	3		3	ME1	6	83926226	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	20553	83926226	87188841	1145	15444											
GABRR1	2569	broad.mit.edu	37	chr6	89888623	89888623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctgacttttcctctgtgGggagctcctctctgaggcca	10	13	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:89888623G>A	uc003pna.2	-	10	1761	c.1306C>T	c.(1306-1308)CCA>TCA	p.P436S	GABRR1_uc011dzv.1_Missense_Mutation_p.P413S	NM_002042	NP_002033	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 1	436	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TTCCTCTGTGGGGAGCTCCTC	0.507													A	89888623	G	A	89888623	3	1	19	1	0	0	0	0	1	0	0	0	6176	1232	43	4	137	4	GABRR1	6	89888623	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	5962397	89888623	81226444	1146	15445											
GABRR2	2570	broad.mit.edu	37	chr6	90024914	90024914	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctgtgaggcaaaaagctgCtttccagtagcctgtggcag	12	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:90024914C>A	uc003pnb.2	-	1	54	c.46G>T	c.(46-48)GCA>TCA	p.A16S		NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2	16					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		CAAAAAGCTGCTTTCCAGTAG	0.502													A	90024914	C	A	90024914	3	1	19	1	0	0	0	0	1	0	0	0	6177	797	28	5	1462	5	GABRR2	6	90024914	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	136291	90024914	81090153	1147	15446											
MDN1	23195	broad.mit.edu	37	chr6	90409955	90409955	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttctccagaaaaccaagTgagagtcctttggctttcag	8	9	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:90409955T>C	uc003pnn.1	-	57	8813	c.8697A>G	c.(8695-8697)TCA>TCG	p.S2899S		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2899					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAAAACCAAGTGAGAGTCCTT	0.413													C	90409955	T	C	90409955	2	2	19	1	0	0	0	0	0	0	0	1	9415	1683	59	3		3	MDN1	6	90409955	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	385041	90409955	80705112	1148	15447											
MDN1	23195	broad.mit.edu	37	chr6	90428119	90428119	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagttgattttattgttgagTcgctgcataagcaataacac	9	6	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:90428119T>C	uc003pnn.1	-	43	6665	c.6549A>G	c.(6547-6549)CGA>CGG	p.R2183R		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2183					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TATTGTTGAGTCGCTGCATAA	0.378													C	90428119	T	C	90428119	2	2	19	1	0	0	0	0	0	0	0	1	9415	1654	58	3		3	MDN1	6	90428119	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	18164	90428119	80686948	1149	15448											
MDN1	23195	broad.mit.edu	37	chr6	90504397	90504397	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagaaacttgaaggcTgcttccattaggtcccggag	12	10	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:90504397T>C	uc003pnn.1	-	3	569	c.453A>G	c.(451-453)GCA>GCG	p.A151A	MDN1_uc003pnp.1_Silent_p.A151A	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	151					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACTTGAAGGCTGCTTCCATTA	0.522													C	90504397	T	C	90504397	2	2	19	1	0	0	0	0	0	0	0	1	9415	1567	55	3		3	MDN1	6	90504397	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	76278	90504397	80610670	1150	15449											
BACH2	60468	broad.mit.edu	37	chr6	90660168	90660168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggcaaggaatctggctcCctgggaacagggcgaggagg	18	8	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:90660168C>T	uc011eab.1	-	7	2466	c.1657G>A	c.(1657-1659)GGA>AGA	p.G553R	BACH2_uc003pnw.2_Missense_Mutation_p.G553R|BACH2_uc010kch.2_Missense_Mutation_p.G553R	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	553						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AATCTGGCTCCCTGGGAACAG	0.572													T	90660168	C	T	90660168	3	4	19	1	0	0	0	0	1	0	0	0	1284	632	22	4	880	4	BACH2	6	90660168	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	155771	90660168	80454899	1151	15450											
MAP3K7	6885	broad.mit.edu	37	chr6	91263240	91263240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcaaagggtttccgacGcgttatcacttcccaaagaa	7	12	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:91263240G>A	uc003pnz.1	-	7	835	c.673C>T	c.(673-675)CGT>TGT	p.R225C	MAP3K7_uc003poa.1_Missense_Mutation_p.R225C|MAP3K7_uc003pob.1_Missense_Mutation_p.R225C|MAP3K7_uc003poc.1_Missense_Mutation_p.R225C	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	225	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGTTTCCGACGCGTTATCACT	0.368													A	91263240	G	A	91263240	3	1	19	1	0	0	0	0	1	0	0	0	9255	1087	38	1	1191	1	MAP3K7	6	91263240	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	603072	91263240	79851827	1152	15451											
MAP3K7	6885	broad.mit.edu	37	chr6	91269917	91269917	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagtataatatggcaatggTtcagcaccatgcagcactgc	10	10	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:91269917T>C	uc003pnz.1	-	5	522	c.360A>G	c.(358-360)GAA>GAG	p.E120E	MAP3K7_uc003poa.1_Silent_p.E120E|MAP3K7_uc003pob.1_Silent_p.E120E|MAP3K7_uc003poc.1_Silent_p.E120E	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	120	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATGGCAATGGTTCAGCACCAT	0.423													C	91269917	T	C	91269917	2	2	19	1	0	0	0	0	0	0	0	1	9255	1722	60	3		3	MAP3K7	6	91269917	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	6677	91269917	79845150	1153	15452											
KIAA0776	23376	broad.mit.edu	37	chr6	96976501	96976501	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgtggactattcagtgctAttacccggtaagtatatttt	8	8	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:96976501A>G	uc003por.2	+	6	637	c.589A>G	c.(589-591)ATT>GTT	p.I197V	KIAA0776_uc010kck.2_RNA	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	197	Required for E3 UFM1-protein ligase activity.|Involved in CDK5RAP3-binding.				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)		ATTCAGTGCTATTACCCGGTA	0.249													G	96976501	A	G	96976501	3	3	19	1	0	0	0	0	1	0	0	0	8193	449	16	3	611	3	KIAA0776	6	96976501	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	5706584	96976501	74138566	1154	15453											
USP45	85015	broad.mit.edu	37	chr6	99894017	99894017	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactgtcagtctccttggtgTacagcagtttacctgctgac	9	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:99894017T>C	uc003ppx.2	-	14	2164	c.1631A>G	c.(1630-1632)TAC>TGC	p.Y544C	USP45_uc003ppv.2_Intron|USP45_uc003ppw.2_Missense_Mutation_p.Y224C	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	544					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|breast(1)	2		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CTCCTTGGTGTACAGCAGTTT	0.478													C	99894017	T	C	99894017	3	2	19	1	0	0	0	0	1	0	0	0	17073	1638	57	3	833	3	USP45	6	99894017	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2917516	99894017	71221050	1155	15454											
SIM1	6492	broad.mit.edu	37	chr6	100838549	100838549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggattttgaaatgcgatcCgaattgggactacttatccg	10	8	0	1	rs151274826		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:100838549C>T	uc003pqj.3	-	11	2196	c.1989G>A	c.(1987-1989)TCG>TCA	p.S663S	SIM1_uc010kcu.2_Silent_p.S663S	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	663	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AAATGCGATCCGAATTGGGAC	0.458													T	100838549	C	T	100838549	2	4	19	1	0	0	0	0	0	0	0	1	14323	639	23	1		1	SIM1	6	100838549	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	944532	100838549	70276518	1156	15455											
ASCC3	10973	broad.mit.edu	37	chr6	101110345	101110345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctgtcctgccgaagcattCctgcatgatgaatactaaaa	7	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:101110345C>T	uc003pqk.2	-	15	2683	c.2354G>A	c.(2353-2355)GGA>GAA	p.G785E	ASCC3_uc011eai.1_Missense_Mutation_p.G687E	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	785	Helicase C-terminal 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CCGAAGCATTCCTGCATGATG	0.383													T	101110345	C	T	101110345	3	4	19	1	0	0	0	0	1	0	0	0	1033	855	30	4	4366	4	ASCC3	6	101110345	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	271796	101110345	70004722	1157	15456											
PREP	5550	broad.mit.edu	37	chr6	105781355	105781355	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattccccttcaaagttgtcAatcagttttacccacttcag	4	12	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:105781355A>G	uc003prc.2	-	8	1052	c.849T>C	c.(847-849)ATT>ATC	p.I283I		NM_002726	NP_002717	P48147	PPCE_HUMAN	prolyl endopeptidase	283					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CAAAGTTGTCAATCAGTTTTA	0.453													G	105781355	A	G	105781355	2	3	19	1	0	0	0	0	0	0	0	1	12474	126	5	3		3	PREP	6	105781355	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	4671010	105781355	65333712	1158	15457											
PRDM1	639	broad.mit.edu	37	chr6	106552829	106552829	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacccctccaaaggaaaggAcctctaccgttctaacattt	5	14	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:106552829A>G	uc003prd.2	+	5	1028	c.794A>G	c.(793-795)GAC>GGC	p.D265G	PRDM1_uc003pre.2_Missense_Mutation_p.D131G	NM_001198	NP_001189	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain isoform	265					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AAAGGAAAGGACCTCTACCGT	0.478			D|N|Mis|F|S		DLBCL								G	106552829	A	G	106552829	3	3	19	1	0	0	0	0	1	0	0	0	12450	275	10	3	825	3	PRDM1	6	106552829	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	771474	106552829	64562238	1159	15458											
RTN4IP1	84816	broad.mit.edu	37	chr6	107076676	107076676	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtgaactttgacaatgActtcatttggatagtgtatg	10	6	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:107076676A>G	uc003prj.2	-	1	698	c.221T>C	c.(220-222)GTC>GCC	p.V74A	QRSL1_uc003prl.2_5'Flank|QRSL1_uc003prm.2_5'Flank|RTN4IP1_uc010kdd.2_Missense_Mutation_p.V74A|RTN4IP1_uc003prk.2_Intron	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1 precursor	74						mitochondrion	oxidoreductase activity|zinc ion binding				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		TTTGACAATGACTTCATTTGG	0.353													G	107076676	A	G	107076676	3	3	19	1	0	0	0	0	1	0	0	0	13729	275	10	3	1005	3	RTN4IP1	6	107076676	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	523847	107076676	64038391	1160	15459											
SCML4	256380	broad.mit.edu	37	chr6	108066254	108066254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcatcgcacaggaggcttCggcacagcttggcgaggaag	16	10	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:108066254C>T	uc010kdf.2	-	5	832	c.581G>A	c.(580-582)CGA>CAA	p.R194Q	SCML4_uc003prz.3_Missense_Mutation_p.R136Q|SCML4_uc011eam.1_Missense_Mutation_p.R194Q|SCML4_uc003psa.3_Missense_Mutation_p.R165Q	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		CAGGAGGCTTCGGCACAGCTT	0.587													T	108066254	C	T	108066254	3	4	19	1	0	0	0	0	1	0	0	0	13911	884	31	1	679	1	SCML4	6	108066254	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	989578	108066254	63048813	1161	15460											
SEC63	11231	broad.mit.edu	37	chr6	108243033	108243033	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgctatcctcatgaacatAacctcatcacctcctttatc	2	14	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:108243033A>G	uc003psc.3	-	4	689	c.420T>C	c.(418-420)GTT>GTC	p.V140V	SEC63_uc003psb.3_5'UTR	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	SEC63-like protein	140	J.|Lumenal (Potential).				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			ovary(1)|skin(1)	2		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TCATGAACATAACCTCATCAC	0.308													G	108243033	A	G	108243033	2	3	19	1	0	0	0	0	0	0	0	1	14005	349	13	3		3	SEC63	6	108243033	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	176779	108243033	62872034	1162	15461											
PPIL6	285755	broad.mit.edu	37	chr6	109752425	109752425	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcataaagtgcagagggttTaatgtcaactatatcccaca	8	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:109752425T>C	uc003ptg.3	-	3	409	c.355A>G	c.(355-357)AAA>GAA	p.K119E	PPIL6_uc010kdo.2_Missense_Mutation_p.K87E|PPIL6_uc010kdp.2_Missense_Mutation_p.K119E	NM_173672	NP_775943	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase-like 6 isoform 1	119					protein folding		peptidyl-prolyl cis-trans isomerase activity				0		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		GCAGAGGGTTTAATGTCAACT	0.398													C	109752425	T	C	109752425	3	2	19	1	0	0	0	0	1	0	0	0	12331	1763	61	3	686	3	PPIL6	6	109752425	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1509392	109752425	61362642	1163	15462											
FIG4	9896	broad.mit.edu	37	chr6	110146437	110146437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaggactcctccatgtAccgagagtacatcaggaacc	9	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:110146437A>G	uc003ptt.2	+	23	2908	c.2693A>G	c.(2692-2694)TAC>TGC	p.Y898C	FIG4_uc011eau.1_Missense_Mutation_p.Y592C	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	898					cell death	endosome membrane	protein binding			ovary(1)	1		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TCCTCCATGTACCGAGAGTAC	0.507													G	110146437	A	G	110146437	3	3	19	1	0	0	0	0	1	0	0	0	5888	391	14	3	2783	3	FIG4	6	110146437	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	394012	110146437	60968630	1164	15463											
CDK19	23097	broad.mit.edu	37	chr6	110935840	110935840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagaggatccctgaacgctGctttggtaattcaggcgaga	13	8	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:110935840G>A	uc003puh.1	-	13	1480	c.1407C>T	c.(1405-1407)AGC>AGT	p.S469S	CDK19_uc003pui.1_Silent_p.S409S|CDK19_uc011eax.1_Silent_p.S345S	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	cell division cycle 2-like 6 (CDK8-like)	469	Ser-rich.						ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						CCTGAACGCTGCTTTGGTAAT	0.517													A	110935840	G	A	110935840	2	1	19	1	0	0	0	0	0	0	0	1	3135	1310	46	2		2	CDK19	6	110935840	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	789403	110935840	60179227	1165	15464											
CDK19	23097	broad.mit.edu	37	chr6	110953367	110953367	+	Splice_Site	DEL	A	A	-													tggcaaaacccatgtcagctAaaaaaataaaataaattaac							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:110953366_110953366TA>T	uc003puh.1	-	6	588	c.515_splice	c.e6-1	p.A172_splice	CDK19_uc003pui.1_Splice_Site_p.A112_splice|CDK19_uc011eax.1_Splice_Site_p.A48_splice	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA.	172	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						CCATGTCAGCtaaaaaaataa	0.343													-	110953367	A	-	110953367	8	5	19	1	0	1	0	1	0	0	1	0	3135	377	13	0		0	CDK19	6	110953367	Splice_Site	DEL	A	TCGA-BR-4361-01A-01D-1158-08	17527	110953367	60161700	1166	15465											
RPF2	84154	broad.mit.edu	37	chr6	111320915	111320915	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatacattttccttccaggTcgtatgtatgactaccatgt	6	9	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:111320915T>C	uc003pun.2	+	6	337	c.318T>C	c.(316-318)GGT>GGC	p.G106G	RPF2_uc003puo.2_Silent_p.G43G	NM_032194	NP_115570	Q9H7B2	RPF2_HUMAN	brix domain containing 1	106	Brix.					nucleolus	protein binding	p.G106V(1)		ovary(2)	2						TCCTTCCAGGTCGTATGTATG	0.343													C	111320915	T	C	111320915	2	2	19	1	0	0	0	0	0	0	0	1	13547	1681	58	3		3	RPF2	6	111320915	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	367548	111320915	59794152	1167	15466											
REV3L	5980	broad.mit.edu	37	chr6	111695404	111695404	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgtatattatttgcaTtatcttctatctttgaggac	5	6	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:111695404T>A	uc003puy.3	-	13	4477	c.4154A>T	c.(4153-4155)AAT>ATT	p.N1385I	REV3L_uc003pux.3_Missense_Mutation_p.N1307I|REV3L_uc003puz.3_Missense_Mutation_p.N1307I	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1385					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATTATTTGCATTATCTTCTAT	0.323								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	111695404	T	A	111695404	3	1	19	1	0	0	0	0	1	0	0	0	13240	1493	52	5	5318	5	REV3L	6	111695404	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	374489	111695404	59419663	1168	15467											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111912880	111912880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagataccagccattgattaCgtttttccataaatgaaaac	6	8	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:111912880C>T	uc011ebc.1	-	3	1025	c.410G>A	c.(409-411)CGT>CAT	p.R137H	TRAF3IP2_uc003pvg.2_Missense_Mutation_p.R137H|TRAF3IP2_uc003pvf.2_Missense_Mutation_p.R137H|TRAF3IP2_uc010kdw.2_Missense_Mutation_p.R137H|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.R137H	NM_147686	NP_679211	O43734	CIKS_HUMAN	TRAF3 interacting protein 2 isoform 2	146					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				ovary(2)|central_nervous_system(1)	3		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CCATTGATTACGTTTTTCCAT	0.502													T	111912880	C	T	111912880	3	4	19	1	0	0	0	0	1	0	0	0	16438	536	19	1	1319	1	TRAF3IP2	6	111912880	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	217476	111912880	59202187	1169	15468											
LAMA4	3910	broad.mit.edu	37	chr6	112462562	112462562	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcatggattcactgtacctTtcaatcttgacaatgctgaa	7	9	4	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:112462562T>C	uc003pvu.2	-	21	3120	c.2811A>G	c.(2809-2811)GAA>GAG	p.E937E	LAMA4_uc003pvv.2_Silent_p.E930E|LAMA4_uc003pvt.2_Silent_p.E930E	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	937	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CACTGTACCTTTCAATCTTGA	0.458													C	112462562	T	C	112462562	2	2	19	1	0	0	0	0	0	0	0	1	8608	1838	64	3		3	LAMA4	6	112462562	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	549682	112462562	58652505	1170	15469											
LAMA4	3910	broad.mit.edu	37	chr6	112528337	112528337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctctcctgttgtgttccGctggcagtgctatgagacaa	12	10	1	1	rs138176093	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:112528337G>A	uc003pvu.2	-	4	616	c.307C>T	c.(307-309)CGG>TGG	p.R103W	LAMA4_uc003pvv.2_Missense_Mutation_p.R103W|LAMA4_uc003pvt.2_Missense_Mutation_p.R103W	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	103	Laminin EGF-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTGTGTTCCGCTGGCAGTGC	0.468													A	112528337	G	A	112528337	3	1	19	1	0	0	0	0	1	0	0	0	8608	1086	38	1	5308	1	LAMA4	6	112528337	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	65775	112528337	58586730	1171	15470											
COL10A1	1300	broad.mit.edu	37	chr6	116442008	116442008	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttgctcctgctgggcccAcagggcctgggagaccagga	14	14	0	1	rs148119438		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:116442008A>G	uc003pwm.2	-	3	1367	c.1271T>C	c.(1270-1272)GTG>GCG	p.V424A	NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	type X collagen alpha 1 precursor	424	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)	1		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TGCTGGGCCCACAGGGCCTGG	0.597													G	116442008	A	G	116442008	3	3	19	1	0	0	0	0	1	0	0	0	3666	159	6	3	775	3	COL10A1	6	116442008	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3913671	116442008	54673059	1172	15471											
TSPYL1	7259	broad.mit.edu	37	chr6	116600086	116600086	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacctctaaattggttatgTaccttaacatctctgcatct	4	11	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:116600086T>C	uc003pwp.3	-	1	1195	c.908A>G	c.(907-909)TAC>TGC	p.Y303C	DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'Flank|DSE_uc003pwr.2_5'Flank|DSE_uc003pws.2_5'Flank	NM_003309	NP_003300	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	303					nucleosome assembly	nucleolus					0		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		ATTGGTTATGTACCTTAACAT	0.448													C	116600086	T	C	116600086	3	2	19	1	0	0	0	0	1	0	0	0	16656	1638	57	3	409	3	TSPYL1	6	116600086	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	158078	116600086	54514981	1173	15472											
DCBLD1	285761	broad.mit.edu	37	chr6	117862089	117862089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctctcaggtaatgatTcattggtgtggcgcaagaca	10	10	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:117862089T>C	uc003pxs.2	+	11	1383	c.1258T>C	c.(1258-1260)TCA>CCA	p.S420P	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Missense_Mutation_p.S420P|DCBLD1_uc003pxt.1_Missense_Mutation_p.S75P	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	420	Extracellular (Potential).				cell adhesion	integral to membrane				ovary(1)	1		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		AGGTAATGATTCATTGGTGTG	0.453													C	117862089	T	C	117862089	3	2	19	1	0	0	0	0	1	0	0	0	4280	1783	62	3	1300	3	DCBLD1	6	117862089	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1262003	117862089	53252978	1174	15473											
FAM184A	79632	broad.mit.edu	37	chr6	119285848	119285848	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataccttagccaatggattaAtaacaccaacagtaggactt	6	9	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:119285848A>G	uc003pyj.2	-	16	3470	c.3122T>C	c.(3121-3123)ATT>ACT	p.I1041T	FAM184A_uc003pyk.3_Missense_Mutation_p.I872T|FAM184A_uc003pyl.3_Intron|FAM184A_uc003pyi.2_RNA	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	1041										ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						CAATGGATTAATAACACCAAC	0.338													G	119285848	A	G	119285848	3	3	19	1	0	0	0	0	1	0	0	0	5511	101	4	3	312	3	FAM184A	6	119285848	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1423759	119285848	51829219	1175	15474											
FAM184A	79632	broad.mit.edu	37	chr6	119297200	119297200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgatggttgagttctgagCgcaaggaagctggaattgca	15	5	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:119297200C>T	uc003pyj.2	-	12	2813	c.2465G>A	c.(2464-2466)CGC>CAC	p.R822H	FAM184A_uc003pyk.3_Missense_Mutation_p.R702H|FAM184A_uc003pyl.3_Missense_Mutation_p.R702H|FAM184A_uc003pyi.2_RNA	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	822										ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						GAGTTCTGAGCGCAAGGAAGC	0.289													T	119297200	C	T	119297200	3	4	19	1	0	0	0	0	1	0	0	0	5511	768	27	1	985	1	FAM184A	6	119297200	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	11352	119297200	51817867	1176	15475											
GJA1	2697	broad.mit.edu	37	chr6	121768708	121768708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttcaagggcgttaaggatCgggttaagggaaagagcgac	15	6	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:121768708C>T	uc003pyr.2	+	2	965	c.715C>T	c.(715-717)CGG>TGG	p.R239W	GJA1_uc011ebo.1_Missense_Mutation_p.R140W|GJA1_uc011ebp.1_Missense_Mutation_p.R27W	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	239	Cytoplasmic (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CGTTAAGGATCGGGTTAAGGG	0.478													T	121768708	C	T	121768708	3	4	19	1	0	0	0	0	1	0	0	0	6400	875	31	1	717	1	GJA1	6	121768708	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2471508	121768708	49346359	1177	15476											
SERINC1	57515	broad.mit.edu	37	chr6	122768017	122768017	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgacaccatccctttcattAtctacagctcggtgaacatc	6	13	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:122768017A>G	uc003pyy.1	-	9	1198	c.1128T>C	c.(1126-1128)GAT>GAC	p.D376D	SERINC1_uc003pyx.1_RNA	NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN	serine incorporator 1	376	Cytoplasmic (Potential).				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.126)		CCCTTTCATTATCTACAGCTC	0.418													G	122768017	A	G	122768017	2	3	19	1	0	0	0	0	0	0	0	1	14079	446	16	3		3	SERINC1	6	122768017	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	999309	122768017	48347050	1178	15477											
TRDN	10345	broad.mit.edu	37	chr6	123892227	123892227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttttccgggggatttggGcacagatccatttttgctgt	11	9	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:123892227G>A	uc003pzj.1	-	2	95	c.73C>T	c.(73-75)CCC>TCC	p.P25S	TRDN_uc003pzk.1_Missense_Mutation_p.P25S|TRDN_uc003pzl.1_Missense_Mutation_p.P25S|TRDN_uc010ken.2_Missense_Mutation_p.P25S|TRDN_uc010keo.1_Missense_Mutation_p.P25S	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	25	Cytoplasmic.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)		GGGGATTTGGGCACAGATCCA	0.428													A	123892227	G	A	123892227	3	1	19	1	0	0	0	0	1	0	0	0	16465	1203	42	2	2276	2	TRDN	6	123892227	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1124210	123892227	47222840	1179	15478											
RSPO3	84870	broad.mit.edu	37	chr6	127469863	127469863	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattacaatggatgtttgtcAtgtaagcccagactattttt	8	6	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:127469863A>G	uc003qar.2	+	2	458	c.168A>G	c.(166-168)TCA>TCG	p.S56S	RSPO3_uc003qas.1_Silent_p.S56S	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	R-spondin 3 precursor	56	FU 1.					extracellular region	heparin binding				0				GBM - Glioblastoma multiforme(226;0.0555)		GATGTTTGTCATGTAAGCCCA	0.418													G	127469863	A	G	127469863	2	3	19	1	0	0	0	0	0	0	0	1	13711	204	8	3		3	RSPO3	6	127469863	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3577636	127469863	43645204	1180	15479											
C6orf174	387104	broad.mit.edu	37	chr6	127836026	127836026	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatttccccggtctgggcgTagcggagccttttgcgctcg	14	13	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:127836026T>C	uc003qbd.2	-	3	2133	c.1268A>G	c.(1267-1269)TAC>TGC	p.Y423C		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	423	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		GGTCTGGGCGTAGCGGAGCCT	0.652													C	127836026	T	C	127836026	3	2	19	1	0	0	0	0	1	0	0	0	2345	1638	57	3	1595	3	C6orf174	6	127836026	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	366163	127836026	43279041	1181	15480											
PTPRK	5796	broad.mit.edu	37	chr6	128318067	128318067	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctataatgtttccatatcGgttttttgctctattttgat	6	6	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:128318067G>A	uc003qbk.2	-	17	3110	c.2743C>T	c.(2743-2745)CGA>TGA	p.R915*	PTPRK_uc003qbj.2_Nonsense_Mutation_p.R916*|PTPRK_uc010kfc.2_Nonsense_Mutation_p.R916*|PTPRK_uc011ebu.1_Nonsense_Mutation_p.R932*	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	915	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTTCCATATCGGTTTTTTGCT	0.318													A	128318067	G	A	128318067	4	1	19	1	0	0	0	0	0	1	0	0	12805	1124	39	1	1654	1	PTPRK	6	128318067	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	482041	128318067	42797000	1182	15481											
PTPRK	5796	broad.mit.edu	37	chr6	128643450	128643450	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagagtccactatcatatAggaacctgaaatgacattac	7	8	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:128643450A>G	uc003qbk.2	-	3	596	c.229T>C	c.(229-231)TAT>CAT	p.Y77H	PTPRK_uc003qbj.2_Missense_Mutation_p.Y77H|PTPRK_uc010kfc.2_Missense_Mutation_p.Y77H|PTPRK_uc011ebu.1_Missense_Mutation_p.Y77H|PTPRK_uc003qbl.1_Intron|PTPRK_uc011ebv.1_Missense_Mutation_p.Y77H|PTPRK_uc003qbm.3_Missense_Mutation_p.Y6H	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	77	Extracellular (Potential).|MAM.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ACTATCATATAGGAACCTGAA	0.353													G	128643450	A	G	128643450	3	3	19	1	0	0	0	0	1	0	0	0	12805	420	15	3	4227	3	PTPRK	6	128643450	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	325383	128643450	42471617	1183	15482											
LAMA2	3908	broad.mit.edu	37	chr6	129759812	129759812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgaagaccatctaaatgGcttaaaaaccaggatagaaa	7	6	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:129759812G>A	uc003qbn.2	+	42	6095	c.5990G>A	c.(5989-5991)GGC>GAC	p.G1997D	LAMA2_uc003qbo.2_Missense_Mutation_p.G1997D	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1997	Domain II and I.|Potential.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CATCTAAATGGCTTAAAAACC	0.338													A	129759812	G	A	129759812	3	1	19	1	0	0	0	0	1	0	0	0	8606	1203	42	2	6156	2	LAMA2	6	129759812	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1116362	129759812	41355255	1184	15483											
ARG1	383	broad.mit.edu	37	chr6	131903792	131903792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggattctcctgggtgaCtccctgtatatctgccaagg	11	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:131903792C>T	uc003qcp.1	+	5	555	c.497C>T	c.(496-498)ACT>ATT	p.T166I	ARG1_uc003qco.1_Missense_Mutation_p.T166I|ARG1_uc010kfm.1_Missense_Mutation_p.T174I|MED23_uc003qcq.2_Intron	NM_000045	NP_000036	P05089	ARGI1_HUMAN	arginase 1	166					arginine catabolic process|urea cycle	cytosol	arginase activity			ovary(1)	1	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	TCCTGGGTGACTCCCTGTATA	0.403													T	131903792	C	T	131903792	3	4	19	1	0	0	0	0	1	0	0	0	857	565	20	4	515	4	ARG1	6	131903792	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2143980	131903792	39211275	1185	15484											
VNN1	8876	broad.mit.edu	37	chr6	133005526	133005526	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaacacctcaggaaagAcatactgggttccgaaagtg	10	10	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:133005526A>G	uc003qdo.2	-	6	1327	c.1307T>C	c.(1306-1308)GTC>GCC	p.V436A	VNN1_uc003qdn.2_RNA	NM_004666	NP_004657	O95497	VNN1_HUMAN	vanin 1 precursor	436					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			ovary(3)	3	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CTCAGGAAAGACATACTGGGT	0.423													G	133005526	A	G	133005526	3	3	19	1	0	0	0	0	1	0	0	0	17179	275	10	3	242	3	VNN1	6	133005526	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1101734	133005526	38109541	1186	15485											
BCLAF1	9774	broad.mit.edu	37	chr6	136594249	136594249	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagggctcttttgccgagtActatgttcttcagtggcttt	10	9	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:136594249A>G	uc003qgx.1	-	7	2182	c.1929T>C	c.(1927-1929)AGT>AGC	p.S643S	BCLAF1_uc003qgw.1_Silent_p.S470S|BCLAF1_uc003qgy.1_Silent_p.S641S|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.S641S	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	643					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTTGCCGAGTACTATGTTCTT	0.393													G	136594249	A	G	136594249	2	3	19	1	0	0	0	0	0	0	0	1	1383	388	14	3		3	BCLAF1	6	136594249	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3588723	136594249	34520818	1187	15486											
MAP3K5	4217	broad.mit.edu	37	chr6	136977530	136977530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagttcttgcttggccacaGgctgttctgtggtcagtttc	11	10	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:136977530G>A	uc003qhc.2	-	10	1956	c.1595C>T	c.(1594-1596)CCT>CTT	p.P532L	MAP3K5_uc011edj.1_5'UTR|MAP3K5_uc011edk.1_Missense_Mutation_p.P377L|MAP3K5_uc010kgw.1_Missense_Mutation_p.P532L	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	532					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)|skin(2)|lung(1)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CTTGGCCACAGGCTGTTCTGT	0.403													A	136977530	G	A	136977530	3	1	19	1	0	0	0	0	1	0	0	0	9253	1000	35	4	2613	4	MAP3K5	6	136977530	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	383281	136977530	34137537	1188	15487											
TNFAIP3	7128	broad.mit.edu	37	chr6	138200209	138200209	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtacttgcttcaaaaggActacagcagaggcctcctcc	9	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:138200209A>G	uc003qhr.2	+	7	1693	c.1627A>G	c.(1627-1629)ACT>GCT	p.T543A	TNFAIP3_uc003qhs.2_Missense_Mutation_p.T543A	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	543	Interaction with NAF1 (By similarity).|A20-type 3.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(22)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTTCAAAAGGACTACAGCAGA	0.597			D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma								G	138200209	A	G	138200209	3	3	19	1	0	0	0	0	1	0	0	0	16271	275	10	3	1649	3	TNFAIP3	6	138200209	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1222679	138200209	32914858	1189	15488											
PBOV1	59351	broad.mit.edu	37	chr6	138539365	138539366	+	Frame_Shift_Ins	INS	-	-	T													gacttctttttactttttctINSttttttcgaaataccttgta							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:138539364_138539365C>CT	uc003qhv.3	-	0	263_264	c.168_169G>AG	c.(166-171)aaagaafs	p.K56fs	KIAA1244_uc003qhu.3_Intron	NM_021635	NP_067648	Q9GZY1	PBOV1_HUMAN	Homo sapiens prostate and breast cancer overexpressed 1 (PBOV1), mRNA.	56						cytoplasm|nucleus				endometrium(1)	1	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674)		TTTACTTTTTCTTTTTTTCGAA	0.396													T	138539366	-	T	138539365	7	5	19	1	0	1	1	0	0	0	0	0	11490	1606	56	0	243	0	PBOV1	6	138539365	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	339156	138539365	32575702	1190	15489											
REPS1	85021	broad.mit.edu	37	chr6	139233945	139233945	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcttcatcatcttgttcgTcgtttacatttgatgcagca	8	10	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:139233945T>C	uc003qii.2	-	16	2507	c.1928A>G	c.(1927-1929)GAC>GGC	p.D643G	REPS1_uc003qig.3_Missense_Mutation_p.D616G|REPS1_uc011edr.1_Missense_Mutation_p.D642G|REPS1_uc003qij.2_Missense_Mutation_p.D552G|REPS1_uc003qik.2_Missense_Mutation_p.D249G	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	643						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		ATCTTGTTCGTCGTTTACATT	0.443													C	139233945	T	C	139233945	3	2	19	1	0	0	0	0	1	0	0	0	13228	1667	58	3	482	3	REPS1	6	139233945	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	694580	139233945	31881122	1191	15490											
HIVEP2	3097	broad.mit.edu	37	chr6	143093511	143093511	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaggtttcctgccccctaGgtctgacatcttgtctgaat	10	11	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:143093511G>T	uc003qjd.2	-	5	3108	c.2365C>A	c.(2365-2367)CTA>ATA	p.L789I		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	789					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTGCCCCCTAGGTCTGACATC	0.512													T	143093511	G	T	143093511	3	4	19	1	0	0	0	0	1	0	0	0	7187	991	35	5	4999	5	HIVEP2	6	143093511	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3859566	143093511	28021556	1192	15491											
PEX3	8504	broad.mit.edu	37	chr6	143793410	143793410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattaataaagatggatccaAacctttattatgccattata	5	6	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:143793410A>G	uc003qjl.2	+	8	954	c.692A>G	c.(691-693)AAA>AGA	p.K231R	PEX3_uc011edx.1_Missense_Mutation_p.K231R	NM_003630	NP_003621	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	231	Cytoplasmic (Potential).				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		GATGGATCCAAACCTTTATTA	0.353													G	143793410	A	G	143793410	3	3	19	1	0	0	0	0	1	0	0	0	11747	14	1	3	722	3	PEX3	6	143793410	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	699899	143793410	27321657	1193	15492											
UTRN	7402	broad.mit.edu	37	chr6	144769741	144769741	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcttttatttcaggtgacTcaggctgtagcaaagctggg	13	7	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:144769741T>C	uc003qkt.2	+	16	2000	c.1908T>C	c.(1906-1908)ACT>ACC	p.T636T	UTRN_uc010khq.1_Silent_p.T636T	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	636	Interaction with SYNM.|Spectrin 4.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTCAGGTGACTCAGGCTGTAG	0.279													C	144769741	T	C	144769741	2	2	19	1	0	0	0	0	0	0	0	1	17100	1538	54	3		3	UTRN	6	144769741	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	976331	144769741	26345326	1194	15493											
UTRN	7402	broad.mit.edu	37	chr6	145160394	145160394	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctactcgcttgatccagatgCctccggcccacagttccacc	7	18	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:145160394C>G	uc003qkt.2	+	71	10243	c.10151C>G	c.(10150-10152)GCC>GGC	p.A3384G		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	3384					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GATCCAGATGCCTCCGGCCCA	0.527													G	145160394	C	G	145160394	3	3	19	1	0	0	0	0	1	0	0	0	17100	739	26	5	10433	5	UTRN	6	145160394	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	390653	145160394	25954673	1195	15494											
GRM1	2911	broad.mit.edu	37	chr6	146755183	146755183	+	Frame_Shift_Del	DEL	T	T	-													gctctggcaagagcctgaccTtttcagataccagcaccaag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:146755183delT	uc010khw.1	+	9	3306	c.2836delT	c.(2836-2838)TTTfs	p.F946fs	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	946	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GAGCCTGACCTTTTCAGATAC	0.552													-	146755183	T	-	146755183	7	5	19	1	0	1	0	1	0	0	0	0	6796	1609	56	0	2931	0	GRM1	6	146755183	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	1594789	146755183	24359884	1196	15495											
STXBP5	134957	broad.mit.edu	37	chr6	147635760	147635760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgggtcagttaagttctggGatgcttctgcaagtaagtat	12	5	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:147635760G>A	uc003qlz.2	+	14	1551	c.1390G>A	c.(1390-1392)GAT>AAT	p.D464N	STXBP5_uc010khz.1_Missense_Mutation_p.D464N|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.D135N	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	464	WD 8.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TAAGTTCTGGGATGCTTCTGC	0.299													A	147635760	G	A	147635760	3	1	19	1	0	0	0	0	1	0	0	0	15355	1174	41	4	1444	4	STXBP5	6	147635760	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	880577	147635760	23479307	1197	15496											
SASH1	23328	broad.mit.edu	37	chr6	148853986	148853986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaaccgggaaagcgtcAagtcggaagatggggatgac	15	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:148853986A>G	uc003qme.1	+	14	2093	c.1618A>G	c.(1618-1620)AAG>GAG	p.K540E	SASH1_uc011eeb.1_Missense_Mutation_p.K301E|SASH1_uc003qmf.1_5'UTR	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	540							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GGAAAGCGTCAAGTCGGAAGA	0.572													G	148853986	A	G	148853986	3	3	19	1	0	0	0	0	1	0	0	0	13848	131	5	3	1672	3	SASH1	6	148853986	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1218226	148853986	22261081	1198	15497											
ZC3H12D	340152	broad.mit.edu	37	chr6	149777991	149777991	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaccttgcgggacggcgtgTacaccagcaccgcctgccgc	13	17	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:149777991T>C	uc003qmn.1	-	3	561	c.491A>G	c.(490-492)TAC>TGC	p.Y164C	PPIL4_uc010kic.2_Intron|ZC3H12D_uc003qmm.2_Missense_Mutation_p.Y164C|ZC3H12D_uc010kid.2_Missense_Mutation_p.Y164C	NM_207360	NP_997243	A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	164						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding				0		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		GGACGGCGTGTACACCAGCAC	0.692													C	149777991	T	C	149777991	3	2	19	1	0	0	0	0	1	0	0	0	17561	1638	57	3	1104	3	ZC3H12D	6	149777991	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	924005	149777991	21337076	1199	15498											
LATS1	9113	broad.mit.edu	37	chr6	150004573	150004573	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggtggtccttgatagTttggagcttcagcaacaggt	15	6	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:150004573T>C	uc003qmu.1	-	4	2200	c.1652A>G	c.(1651-1653)AAC>AGC	p.N551S	LATS1_uc010kif.1_Missense_Mutation_p.N446S|LATS1_uc003qmv.1_Missense_Mutation_p.N551S|LATS1_uc003qmw.2_Missense_Mutation_p.N551S|LATS1_uc010kig.1_Missense_Mutation_p.N446S	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	551	Interaction with YAP1.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TCCTTGATAGTTTGGAGCTTC	0.483													C	150004573	T	C	150004573	3	2	19	1	0	0	0	0	1	0	0	0	8646	1725	60	3	1760	3	LATS1	6	150004573	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	226582	150004573	21110494	1200	15499											
IYD	389434	broad.mit.edu	37	chr6	150715265	150715265	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attaaagagtacttggatacTgcccctattttgattctcat	6	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:150715265T>A	uc003qnu.1	+	4	701	c.561T>A	c.(559-561)ACT>ACA	p.T187T	IYD_uc003qnv.1_Silent_p.T187T|IYD_uc003qnw.1_RNA|IYD_uc003qnx.1_Silent_p.T187T|IYD_uc010kik.1_Silent_p.T105T	NM_203395	NP_981932	Q6PHW0	IYD1_HUMAN	iodotyrosine dehalogenase 1 isoform 2	187	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				ovary(2)	2		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		ACTTGGATACTGCCCCTATTT	0.368													A	150715265	T	A	150715265	2	1	19	1	0	0	0	0	0	0	0	1	7932	1567	55	5		5	IYD	6	150715265	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	710692	150715265	20399802	1201	15500											
RMND1	55005	broad.mit.edu	37	chr6	151766783	151766783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccactagctgttttatcaGgaaggaacaaatccaagctt	7	9	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:151766783G>A	uc003qoi.2	-	2	344	c.164C>T	c.(163-165)CCT>CTT	p.P55L	RMND1_uc011eeq.1_5'Flank|RMND1_uc003qoj.2_Missense_Mutation_p.P55L|RMND1_uc011eer.1_Missense_Mutation_p.P55L	NM_017909	NP_060379	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog	55											0		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TGTTTTATCAGGAAGGAACAA	0.393													A	151766783	G	A	151766783	3	1	19	1	0	0	0	0	1	0	0	0	13396	1000	35	4	1229	4	RMND1	6	151766783	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1051518	151766783	19348284	1202	15501											
SYNE1	23345	broad.mit.edu	37	chr6	152469422	152469422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggagaaagcaggctgtctGcagagcggtcgtgccagtgc	17	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:152469422G>A	uc010kiw.2	-	137	25336	c.24734C>T	c.(24733-24735)GCA>GTA	p.A8245V	SYNE1_uc010kiv.2_Missense_Mutation_p.A2769V|SYNE1_uc003qos.3_Missense_Mutation_p.A2769V|SYNE1_uc003qot.3_Missense_Mutation_p.A8174V|SYNE1_uc003qou.3_Missense_Mutation_p.A8245V|SYNE1_uc003qop.3_Missense_Mutation_p.A407V|SYNE1_uc011eez.1_Missense_Mutation_p.A447V|SYNE1_uc003qoq.3_Missense_Mutation_p.A447V|SYNE1_uc003qor.3_Missense_Mutation_p.A1145V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8245	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)		CAGGCTGTCTGCAGAGCGGTC	0.632										HNSCC(10;0.0054)			A	152469422	G	A	152469422	3	1	19	1	0	0	0	0	1	0	0	0	15442	1319	46	2	1772	2	SYNE1	6	152469422	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	702639	152469422	18645645	1203	15502											
SYNE1	23345	broad.mit.edu	37	chr6	152557373	152557373	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgatggatatcagaagTcgtttcccatcatctaatac	7	10	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:152557373T>C	uc010kiw.2	-	110	20867	c.20265A>G	c.(20263-20265)CGA>CGG	p.R6755R	SYNE1_uc010kiv.2_Silent_p.R1279R|SYNE1_uc003qos.3_Silent_p.R1279R|SYNE1_uc003qot.3_Silent_p.R6684R|SYNE1_uc003qou.3_Silent_p.R6755R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6755	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)		ATATCAGAAGTCGTTTCCCAT	0.338										HNSCC(10;0.0054)			C	152557373	T	C	152557373	2	2	19	1	0	0	0	0	0	0	0	1	15442	1654	58	3		3	SYNE1	6	152557373	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	87951	152557373	18557694	1204	15503											
SYNE1	23345	broad.mit.edu	37	chr6	152652220	152652220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaattcctgaagcttccCcagcacttcactcttttcct	4	16	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:152652220C>T	uc010kiw.2	-	78	14202	c.13600G>A	c.(13600-13602)GGG>AGG	p.G4534R	SYNE1_uc003qot.3_Missense_Mutation_p.G4463R|SYNE1_uc003qou.3_Missense_Mutation_p.G4534R|SYNE1_uc010kiz.2_Missense_Mutation_p.G289R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4534	Cytoplasmic (Potential).|Spectrin 13.				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)		TGAAGCTTCCCCAGCACTTCA	0.453										HNSCC(10;0.0054)			T	152652220	C	T	152652220	3	4	19	1	0	0	0	0	1	0	0	0	15442	623	22	4	13142	4	SYNE1	6	152652220	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	94847	152652220	18462847	1205	15504											
SYNE1	23345	broad.mit.edu	37	chr6	152673183	152673183	+	Frame_Shift_Del	DEL	T	T	-													ttgtatttagataactgagcTtttttctcatataattccat							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:152673182_152673182CT>C	uc021zhb.1	-	67	11783	c.11560_11560AG>G	c.(11560-11562)gctfs	p.A3854fs	SYNE1_uc003qot.4_Frame_Shift_Del_p.A3839fs|SYNE1_uc003qou.4_Frame_Shift_Del_p.A3854fs|SYNE1_uc010kja.2_Frame_Shift_Del_p.A559fs	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3854					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GATAACTGAGCTTTTTTCTCA	0.403										HNSCC(10;0.0054)			-	152673183	T	-	152673183	7	5	19	1	0	1	0	1	0	0	0	0	15442	1606	56	0	15215	0	SYNE1	6	152673183	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	20963	152673183	18441884	1206	15505											
SYNE1	23345	broad.mit.edu	37	chr6	152718065	152718065	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaaagtttgtccttcttgAgtcactgcatcaagtttgct	7	9	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:152718065A>G	uc010kiw.2	-	50	8003	c.7401T>C	c.(7399-7401)ACT>ACC	p.T2467T	SYNE1_uc003qot.3_Silent_p.T2474T|SYNE1_uc003qou.3_Silent_p.T2467T|SYNE1_uc010kjb.1_Silent_p.T2450T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2467	Spectrin 4.|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)		GTCCTTCTTGAGTCACTGCAT	0.378										HNSCC(10;0.0054)			G	152718065	A	G	152718065	2	3	19	1	0	0	0	0	0	0	0	1	15442	291	11	3		3	SYNE1	6	152718065	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	44882	152718065	18397002	1207	15506											
SYNE1	23345	broad.mit.edu	37	chr6	152847248	152847248	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaggacctccagaagggcAagcagtttaacaccatcttt	9	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:152847248A>G	uc010kiw.2	-	5	794	c.192T>C	c.(190-192)CTT>CTC	p.L64L	SYNE1_uc003qot.3_Silent_p.L64L|SYNE1_uc003qou.3_Silent_p.L64L|SYNE1_uc010kjb.1_Silent_p.L64L|SYNE1_uc003qpa.1_Silent_p.L64L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	64	Actin-binding.|Cytoplasmic (Potential).|CH 1.				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)		CCAGAAGGGCAAGCAGTTTAA	0.398										HNSCC(10;0.0054)			G	152847248	A	G	152847248	2	3	19	1	0	0	0	0	0	0	0	1	15442	117	5	3		3	SYNE1	6	152847248	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	129183	152847248	18267819	1208	15507											
RBM16	22828	broad.mit.edu	37	chr6	155154296	155154296	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccccctcctcatgctcggGtttttgattattttgaaggg	9	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:155154296G>T	uc003qqa.2	+	21	3815	c.3583G>T	c.(3583-3585)GTT>TTT	p.V1195F	TIAM2_uc003qqb.2_5'UTR|RBM16_uc011efj.1_Missense_Mutation_p.V1261F|RBM16_uc011efk.1_Missense_Mutation_p.V1240F|RBM16_uc003qpz.2_Missense_Mutation_p.V1195F|RBM16_uc010kji.2_Intron	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	1195					mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)		TCATGCTCGGGTTTTTGATTA	0.433													T	155154296	G	T	155154296	3	4	19	1	0	0	0	0	1	0	0	0	13118	1261	44	5	3661	5	RBM16	6	155154296	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2307048	155154296	15960771	1209	15508											
CLDN20	49861	broad.mit.edu	37	chr6	155596891	155596891	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagctccttgctttcatccTggccttatctggggtctctg	9	14	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:155596891T>C	uc003qql.1	+	2	418	c.38T>C	c.(37-39)CTG>CCG	p.L13P	TFB1M_uc003qqj.3_Intron|TFB1M_uc003qqk.2_Intron	NM_001001346	NP_001001346	P56880	CLD20_HUMAN	claudin 20	13	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		GCTTTCATCCTGGCCTTATCT	0.483													C	155596891	T	C	155596891	3	2	19	1	0	0	0	0	1	0	0	0	3482	1580	55	3	40	3	CLDN20	6	155596891	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	442595	155596891	15518176	1210	15509											
SYNJ2	8871	broad.mit.edu	37	chr6	158497755	158497755	+	Frame_Shift_Del	DEL	C	C	-													tacaagcgacaaatgccgcaCccccgcctggacagacaggg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:158497754_158497754AC>A	uc003qqx.2	+	16	2495	c.2389_2389AC>A	c.(2389-2391)accfs	p.T797fs	SYNJ2_uc003qqw.2_Frame_Shift_Del_p.T797fs|SYNJ2_uc003qqy.2_Frame_Shift_Del_p.T560fs|SYNJ2_uc003qqz.2_Frame_Shift_Del_p.T414fs|SYNJ2_uc003qra.2_Frame_Shift_Del_p.T140fs	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	797							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	p.R796C(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CAAATGCCGCACCCCCGCCTG	0.537													-	158497755	C	-	158497755	7	5	19	1	0	1	0	1	0	0	0	0	15450	507	18	0	2456	0	SYNJ2	6	158497755	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	2900864	158497755	12617312	1211	15510											
TULP4	56995	broad.mit.edu	37	chr6	158924465	158924465	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctagtttacagctgccacCtgtcgccttgcatccatgga	8	14	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:158924465C>A	uc003qrf.2	+	13	5127	c.3770C>A	c.(3769-3771)CCT>CAT	p.P1257H	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1257					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCTGCCACCTGTCGCCTTG	0.627													A	158924465	C	A	158924465	3	1	19	1	0	0	0	0	1	0	0	0	16773	681	24	5	3820	5	TULP4	6	158924465	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	426710	158924465	12190602	1212	15511											
WTAP	9589	broad.mit.edu	37	chr6	160164712	160164712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagctaatgatgtaactgGcctaagagagtctgaagaaa	10	6	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:160164712G>A	uc003qsl.2	+	5	383	c.161G>A	c.(160-162)GGC>GAC	p.G54D	WTAP_uc010kjx.2_Missense_Mutation_p.G54D|WTAP_uc003qsk.2_Missense_Mutation_p.G54D|WTAP_uc003qsm.1_RNA|WTAP_uc003qsn.2_Missense_Mutation_p.G54D	NM_004906	NP_004897	Q15007	FL2D_HUMAN	Wilms' tumour 1-associating protein isoform 1	54					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus					0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GATGTAACTGGCCTAAGAGAG	0.363													A	160164712	G	A	160164712	3	1	19	1	0	0	0	0	1	0	0	0	17406	1203	42	2	175	2	WTAP	6	160164712	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1240247	160164712	10950355	1213	15512											
PLG	5340	broad.mit.edu	37	chr6	161152266	161152266	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagactccttccgaagaaggTaagaaatctgtggctggaca	12	8	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:161152266T>C	uc003qtm.3	+	11	1501	c.1438_splice	c.e11+2	p.D480_splice		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen						extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCGAAGAAGGTAAGAAATCTG	0.473													C	161152266	T	C	161152266	5	2	19	1	0	0	0	0	0	0	1	0	12086	1652	57	3	1486	3	PLG	6	161152266	Splice_Site	SNP	T	TCGA-BR-4361-01A-01D-1158-08	987554	161152266	9962801	1214	15513											
MAP3K4	4216	broad.mit.edu	37	chr6	161502018	161502018	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaatggaatttcaccaaaGaaataactcattacatacgg	6	7	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:161502018G>A	uc003qtn.2	+	6	2345	c.2203G>A	c.(2203-2205)GAA>AAA	p.E735K	MAP3K4_uc010kkc.1_Missense_Mutation_p.E735K|MAP3K4_uc003qto.2_Missense_Mutation_p.E735K|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.E188K	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	735					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTTCACCAAAGAAATAACTCA	0.428													A	161502018	G	A	161502018	3	1	19	1	0	0	0	0	1	0	0	0	9252	943	33	4	2225	4	MAP3K4	6	161502018	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	349752	161502018	9613049	1215	15514											
MAP3K4	4216	broad.mit.edu	37	chr6	161527693	161527693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgataatgttatgcacgttgGcttgaggaaggtgaccttca	12	6	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:161527693G>A	uc003qtn.2	+	20	4146	c.4004G>A	c.(4003-4005)GGC>GAC	p.G1335D	MAP3K4_uc010kkc.1_Missense_Mutation_p.G1331D|MAP3K4_uc003qto.2_Missense_Mutation_p.G1285D|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.G788D|MAP3K4_uc003qtp.2_Missense_Mutation_p.G271D|MAP3K4_uc003qtq.2_Missense_Mutation_p.G24D	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1335					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ATGCACGTTGGCTTGAGGAAG	0.388													A	161527693	G	A	161527693	3	1	19	1	0	0	0	0	1	0	0	0	9252	1203	42	2	4082	2	MAP3K4	6	161527693	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	25675	161527693	9587374	1216	15515											
T	6862	broad.mit.edu	37	chr6	166571994	166571994	+	Frame_Shift_Del	DEL	C	C	-													ggagccccggaagaactgggCccccagcccgttggacacgg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:166571993_166571993GC>G	uc003qut.1	-	7	1407	c.1121_1121GC>C	c.(1120-1122)gccfs	p.A374fs	T_uc003quu.1_Frame_Shift_Del_p.A373fs|T_uc003quv.1_Frame_Shift_Del_p.A315fs	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	373					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GAAGAACTGGGCCCCCAGCCC	0.692									Chordoma, Familial Clustering of				-	166571994	C	-	166571994	7	5	19	1	0	1	0	1	0	0	0	0	15485	739	26	0	194	0	T	6	166571994	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	5044301	166571994	4543073	1217	15516											
UNC93A	54346	broad.mit.edu	37	chr6	167708156	167708156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccatgtgtggctacgtggCcttctccgtgggcaacttct	11	13	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:167708156C>T	uc003qvq.2	+	2	414	c.239C>T	c.(238-240)GCC>GTC	p.A80V	UNC93A_uc003qvr.2_Missense_Mutation_p.A80V	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	80	Helical; (Potential).					integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGCTACGTGGCCTTCTCCGTG	0.637													T	167708156	C	T	167708156	3	4	19	1	0	0	0	0	1	0	0	0	16993	739	26	2	245	2	UNC93A	6	167708156	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1136162	167708156	3406911	1218	15517											
MLLT4	4301	broad.mit.edu	37	chr6	168348992	168348992	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggagcagacgcctccgcctaGacctgaagcctaccccatcc	9	18	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:168348992G>A	uc003qwd.2	+	28	3783	c.3641G>A	c.(3640-3642)AGA>AAA	p.R1214K	MLLT4_uc003qwb.1_Missense_Mutation_p.R1199K|MLLT4_uc003qwc.1_Missense_Mutation_p.R1215K|MLLT4_uc003qwg.1_Missense_Mutation_p.R524K	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1215					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CCTCCGCCTAGACCTGAAGCC	0.448			T	MLL	AL								A	168348992	G	A	168348992	3	1	19	1	0	0	0	0	1	0	0	0	9629	942	33	4	3754	4	MLLT4	6	168348992	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	640836	168348992	2766075	1219	15518											
KIF25	3834	broad.mit.edu	37	chr6	168434697	168434697	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaattatccctagagtggcTgaggagctcttcaggtactg	13	8	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:168434697T>C	uc003qwk.1	+	4	565	c.303T>C	c.(301-303)GCT>GCC	p.A101A	KIF25_uc003qwl.1_Silent_p.A101A	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	kinesin family member 25 isoform 1	101	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(1)|pancreas(1)	2		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CTAGAGTGGCTGAGGAGCTCT	0.547													C	168434697	T	C	168434697	2	2	19	1	0	0	0	0	0	0	0	1	8293	1567	55	3		3	KIF25	6	168434697	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	85705	168434697	2680370	1220	15519											
PDCD2	5134	broad.mit.edu	37	chr6	170889180	170889180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatggaatccagttcttcCtcaagtgcttcacctgaaaa	7	12	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:170889180C>T	uc003qxw.2	-	4	751	c.672G>A	c.(670-672)GAG>GAA	p.E224E	PDCD2_uc003qxv.2_Silent_p.E191E|PDCD2_uc003qxx.1_Silent_p.E224E	NM_002598	NP_002589	Q16342	PDCD2_HUMAN	programmed cell death 2 isoform 1	224					apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding				0		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		CCAGTTCTTCCTCAAGTGCTT	0.388													T	170889180	C	T	170889180	2	4	19	1	0	0	0	0	0	0	0	1	11619	680	24	4		4	PDCD2	6	170889180	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2454483	170889180	225887	1221	15520											
HEATR2	54919	broad.mit.edu	37	chr7	769478	769478	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcgactgtttgatgacgtCccgcaggtaactggtgtttc	12	10	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:769478C>T	uc010krz.1	+	2	794	c.774C>T	c.(772-774)GTC>GTT	p.V258V	PRKAR1B_uc003siw.1_5'Flank|HEATR2_uc003siz.2_Silent_p.V126V	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	258	HEAT 3.						protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TTGATGACGTCCCGCAGGTAA	0.517													T	769478	C	T	769478	2	4	19	1	0	0	0	0	0	0	0	1	7028	842	30	4		4	HEATR2	7	769478	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08		769478	158369185	1222	15521											
CHST12	55501	broad.mit.edu	37	chr7	2472447	2472447	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccgggccggacagggacaGggagctcacggccgactccg	17	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:2472447G>T	uc003smc.2	+	2	308	c.173G>T	c.(172-174)AGG>ATG	p.R58M	CHST12_uc003smd.2_Missense_Mutation_p.R58M	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN	carbohydrate sulfotransferase 12	58	Lumenal (Potential).				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			kidney(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GACAGGGACAGGGAGCTCACG	0.657													T	2472447	G	T	2472447	3	4	19	1	0	0	0	0	1	0	0	0	3400	1000	35	5	175	5	CHST12	7	2472447	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1702969	2472447	156666216	1223	15522											
C7orf27	221927	broad.mit.edu	37	chr7	2583482	2583482	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccccggcaggcagggctgcCcctcggctccacctcgcatg	12	20	0	0	rs148598276	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:2583482C>A	uc003smi.2	-	5	587	c.545G>T	c.(544-546)GGG>GTG	p.G182V	C7orf27_uc003smh.3_5'Flank|C7orf27_uc003smj.1_Missense_Mutation_p.G182V	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	182					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		GCAGGGCTGCCCCTCGGCTCC	0.652													A	2583482	C	A	2583482	3	1	19	1	0	0	0	0	1	0	0	0	2382	623	22	5	1960	5	C7orf27	7	2583482	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	111035	2583482	156555181	1224	15523											
FOXK1	221937	broad.mit.edu	37	chr7	4800727	4800727	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacccaccattgcgtttgccAcaatccccgcggctggtgga	10	15	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:4800727A>G	uc003snc.1	+	8	1739	c.1729A>G	c.(1729-1731)ACA>GCA	p.T577A	FOXK1_uc003sna.1_Missense_Mutation_p.T414A	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	forkhead box K1	577					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			upper_aerodigestive_tract(1)|skin(1)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TGCGTTTGCCACAATCCCCGC	0.652													G	4800727	A	G	4800727	3	3	19	1	0	0	0	0	1	0	0	0	6014	159	6	3	1759	3	FOXK1	7	4800727	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2217245	4800727	154337936	1225	15524											
ACTB	60	broad.mit.edu	37	chr7	5567755	5567755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtacaggtctttgcggatGtccacgtcacacttcatgat	10	11	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:5567755G>A	uc003sos.3	-	4	900	c.864C>T	c.(862-864)GAC>GAT	p.D288D	ACTB_uc003sor.3_Silent_p.D166D|ACTB_uc003sot.3_Silent_p.D288D|ACTB_uc003soq.3_Silent_p.D166D|ACTB_uc010ksy.2_Silent_p.D166D	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	288					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CTTTGCGGATGTCCACGTCAC	0.557													A	5567755	G	A	5567755	2	1	19	1	0	0	0	0	0	0	0	1	193	1368	48	4		4	ACTB	7	5567755	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	767028	5567755	153570908	1226	15525											
RNF216	54476	broad.mit.edu	37	chr7	5692060	5692060	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacatagaggtacggtactTgatgtcgtctttttcagcca	9	9	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:5692060T>C	uc003soy.1	-	14	2162	c.1972A>G	c.(1972-1974)AAG>GAG	p.K658E	RNF216_uc010ksz.1_Missense_Mutation_p.K280E|RNF216_uc010kta.1_Missense_Mutation_p.K280E|RNF216_uc011jwj.1_Missense_Mutation_p.K280E|RNF216_uc003sox.1_Missense_Mutation_p.K715E|RNF216_uc003spa.1_RNA	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	658					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GTACGGTACTTGATGTCGTCT	0.473													C	5692060	T	C	5692060	3	2	19	1	0	0	0	0	1	0	0	0	13480	1821	63	3	644	3	RNF216	7	5692060	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	124305	5692060	153446603	1227	15526											
PMS2	5395	broad.mit.edu	37	chr7	6027153	6027153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcagtctggaaatggacaCgtcttttttttcttctccag	8	10	4	0	rs138387687		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:6027153C>T	uc003spl.2	-	11	1330	c.1243G>A	c.(1243-1245)GTG>ATG	p.V415M	PMS2_uc003spj.2_Missense_Mutation_p.V309M|PMS2_uc003spk.2_Missense_Mutation_p.V280M|PMS2_uc011jwl.1_Missense_Mutation_p.V280M|PMS2_uc010ktg.2_Missense_Mutation_p.V104M|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Missense_Mutation_p.V415M	NM_000535	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 isoform	415					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GAAATGGACACGTCTTTTTTT	0.458			Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				T	6027153	C	T	6027153	3	4	19	1	0	0	0	0	1	0	0	0	12143	536	19	1	1365	1	PMS2	7	6027153	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	335093	6027153	153111510	1228	15527											
USP42	84132	broad.mit.edu	37	chr7	6189299	6189299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taacgggaattccagtgtcaAcagggctagtcctgttaatg	11	8	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:6189299A>G	uc011jwo.1	+	13	1595	c.1472A>G	c.(1471-1473)AAC>AGC	p.N491S	USP42_uc010kth.1_Missense_Mutation_p.N424S|USP42_uc011jwp.1_Missense_Mutation_p.N491S|USP42_uc011jwq.1_Missense_Mutation_p.N298S|USP42_uc011jwr.1_Missense_Mutation_p.N336S	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	491					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TCCAGTGTCAACAGGGCTAGT	0.443													G	6189299	A	G	6189299	3	3	19	1	0	0	0	0	1	0	0	0	17070	43	2	3	1518	3	USP42	7	6189299	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	162146	6189299	152949364	1229	15528											
DGKB	1607	broad.mit.edu	37	chr7	14733738	14733738	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaagaagtggaatcgttgTcattcctccttgaatccatt	7	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:14733738T>C	uc003ssz.2	-	8	860	c.673A>G	c.(673-675)ACA>GCA	p.T225A	DGKB_uc011jxt.1_Missense_Mutation_p.T218A|DGKB_uc003sta.2_Missense_Mutation_p.T225A|DGKB_uc011jxu.1_Missense_Mutation_p.T225A|DGKB_uc011jxv.1_Missense_Mutation_p.T225A	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	225	EF-hand 2.				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)	GGAATCGTTGTCATTCCTCCT	0.463													C	14733738	T	C	14733738	3	2	19	1	0	0	0	0	1	0	0	0	4466	1667	58	3	1828	3	DGKB	7	14733738	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	8544439	14733738	144404925	1230	15529											
ISPD	729920	broad.mit.edu	37	chr7	16317832	16317832	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtatccataactacacaAatctcttgggaaattctctc	4	11	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:16317832A>C	uc010ktx.2	-	6	855	c.855T>G	c.(853-855)ATT>ATG	p.I285M	ISPD_uc010kty.2_Missense_Mutation_p.I235M	NM_001101426	NP_001094896	A4D126	ISPD_HUMAN	notch1-induced protein isoform a	285					isoprenoid biosynthetic process		nucleotidyltransferase activity			ovary(1)	1						TAACTACACAAATCTCTTGGG	0.313										Multiple Myeloma(15;0.18)			C	16317832	A	C	16317832	3	2	19	1	0	0	0	0	1	0	0	0	7864	10	1	5	520	5	ISPD	7	16317832	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1584094	16317832	142820831	1231	15530											
SNX13	23161	broad.mit.edu	37	chr7	17861218	17861218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcactgtttaggttgcgccGgtgtacagtgatggcatata	12	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:17861218G>A	uc003stw.1	-	18	2005	c.1792C>T	c.(1792-1794)CGG>TGG	p.R598W	SNX13_uc003stv.2_Missense_Mutation_p.R587W|SNX13_uc010kuc.2_Missense_Mutation_p.R384W|SNX13_uc010kub.2_5'UTR			Q9Y5W8	SNX13_HUMAN	SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;	598	PX.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			central_nervous_system(2)|kidney(1)	3	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AGGTTGCGCCGGTGTACAGTG	0.403													A	17861218	G	A	17861218	3	1	19	1	0	0	0	0	1	0	0	0	14884	1115	39	1	1150	1	SNX13	7	17861218	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1543386	17861218	141277445	1232	15531											
ABCB5	340273	broad.mit.edu	37	chr7	20782592	20782592	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtggcttatccctcagTattgagcgaggaaagacagt	11	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:20782592T>C	uc003suw.3	+	16	2328	c.1782T>C	c.(1780-1782)AGT>AGC	p.S594S	ABCB5_uc010kuh.2_Silent_p.S1039S	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	594	Cytoplasmic (Potential).|ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						TATCCCTCAGTATTGAGCGAG	0.478													C	20782592	T	C	20782592	2	2	19	1	0	0	0	0	0	0	0	1	44	1635	57	3		3	ABCB5	7	20782592	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2921374	20782592	138356071	1233	15532											
SP4	6671	broad.mit.edu	37	chr7	21469680	21469680	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggacttccaatgggaatcaAttagtttccacacccaccaa	7	12	1	0	rs138646408		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:21469680A>T	uc003sva.2	+	3	1078	c.897A>T	c.(895-897)CAA>CAT	p.Q299H	SP4_uc003svb.2_5'UTR	NM_003112	NP_003103	Q02446	SP4_HUMAN	Sp4 transcription factor	299					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(3)|skin(2)	5						ATGGGAATCAATTAGTTTCCA	0.527													T	21469680	A	T	21469680	3	4	19	1	0	0	0	0	1	0	0	0	14966	98	4	5	907	5	SP4	7	21469680	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	687088	21469680	137668983	1234	15533											
NUPL2	11097	broad.mit.edu	37	chr7	23224695	23224695	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgtttattttaggtaataAtagacgtggatggaatacaa	9	2	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:23224695A>G	uc003svu.2	+	2	387	c.128A>G	c.(127-129)AAT>AGT	p.N43S	NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_Intron|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_5'UTR	NM_007342	NP_031368	O15504	NUPL2_HUMAN	nucleoporin like 2	43					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			skin(2)|ovary(1)	3						TTAGGTAATAATAGACGTGGA	0.279													G	23224695	A	G	23224695	3	3	19	1	0	0	0	0	1	0	0	0	10775	101	4	3	134	3	NUPL2	7	23224695	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1755015	23224695	135913968	1235	15534											
GPNMB	10457	broad.mit.edu	37	chr7	23293054	23293054	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtggaagcggggagacAtgaggtggaaaaactcctgg	17	6	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:23293054A>G	uc003swc.2	+	2	360	c.199A>G	c.(199-201)ATG>GTG	p.M67V	GPNMB_uc003swa.2_Missense_Mutation_p.M67V|GPNMB_uc003swb.2_Missense_Mutation_p.M67V|GPNMB_uc011jyy.1_Missense_Mutation_p.M67V|GPNMB_uc011jyz.1_Intron	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	67	Extracellular (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)			GCGGGGAGACATGAGGTGGAA	0.418													G	23293054	A	G	23293054	3	3	19	1	0	0	0	0	1	0	0	0	6620	217	8	3	205	3	GPNMB	7	23293054	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	68359	23293054	135845609	1236	15535											
TRIL	9865	broad.mit.edu	37	chr7	28996482	28996482	+	Frame_Shift_Del	DEL	G	G	-													ggtatttgcctcgcagggccGgggggtggcgacactgcacg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:28996481_28996481CG>C	uc003szt.3	-	2	1546	c.1179_1179CG>G	c.(1177-1179)ccgfs	p.P393fs	DQ601810_uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	Homo sapiens TLR4 interactor with leucine-rich repeats (TRIL), mRNA.	394	LRRCT.				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										CTCGCAGGGCCGGGGGGTGGC	0.662													-	28996482	G	-	28996482	7	5	19	1	0	1	0	1	0	0	0	0	16482	1116	39	0	1258	0	TRIL	7	28996482	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	5703428	28996482	130142181	1237	15536											
CPVL	54504	broad.mit.edu	37	chr7	29111511	29111511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacaggaattctgcatagcCccctataatctgaggacaaa	8	10	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:29111511C>T	uc003szv.2	-	9	861	c.742G>A	c.(742-744)GGC>AGC	p.G248S	CPVL_uc003szw.2_Missense_Mutation_p.G248S|CPVL_uc003szx.2_Missense_Mutation_p.G248S	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	248					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2						TCTGCATAGCCCCCTATAATC	0.408													T	29111511	C	T	29111511	3	4	19	1	0	0	0	0	1	0	0	0	3835	623	22	4	708	4	CPVL	7	29111511	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	115029	29111511	130027152	1238	15537											
CPVL	54504	broad.mit.edu	37	chr7	29152370	29152370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgttgtaagtcttattcaCggtgaggaagccggcataac	12	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:29152370C>T	uc003szv.2	-	3	357	c.238G>A	c.(238-240)GTG>ATG	p.V80M	CPVL_uc003szw.2_Missense_Mutation_p.V80M|CPVL_uc003szx.2_Missense_Mutation_p.V80M	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	80					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2						GTCTTATTCACGGTGAGGAAG	0.478													T	29152370	C	T	29152370	3	4	19	1	0	0	0	0	1	0	0	0	3835	536	19	1	1236	1	CPVL	7	29152370	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	40859	29152370	129986293	1239	15538											
SCRN1	9805	broad.mit.edu	37	chr7	29994974	29994974	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcgattgaaatgtaagtGcactgaaaaacaaacacagg	10	6	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:29994974G>A	uc010kvp.2	-	2	366	c.162C>T	c.(160-162)TGC>TGT	p.C54C	SCRN1_uc011jzy.1_5'UTR|SCRN1_uc003tak.2_Silent_p.C54C|SCRN1_uc011jzz.1_Silent_p.C54C|SCRN1_uc011kaa.1_Silent_p.C74C|SCRN1_uc011jzw.1_5'UTR|SCRN1_uc011jzx.1_Intron	NM_001145515	NP_001138987	Q12765	SCRN1_HUMAN	secernin 1 isoform c	54					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			ovary(2)	2						AAATGTAAGTGCACTGAAAAA	0.458													A	29994974	G	A	29994974	2	1	19	1	0	0	0	0	0	0	0	1	13938	1311	46	2		2	SCRN1	7	29994974	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	842604	29994974	129143689	1240	15539											
NOD1	10392	broad.mit.edu	37	chr7	30492144	30492144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggagctgtcaggcacgcGgctcaggtccaagtccgagt	15	12	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:30492144G>A	uc003tav.2	-	6	1412	c.889C>T	c.(889-891)CGC>TGC	p.R297C	NOD1_uc010kvs.2_3'UTR	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	297	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2						TCAGGCACGCGGCTCAGGTCC	0.662													A	30492144	G	A	30492144	3	1	19	1	0	0	0	0	1	0	0	0	10516	1116	39	1	2008	1	NOD1	7	30492144	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	497170	30492144	128646519	1241	15540											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31126133	31126133	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggagatacttctactggTacaccatcattggctggggt	11	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:31126133T>C	uc003tca.1	+	10	1028	c.805T>C	c.(805-807)TAC>CAC	p.Y269H	ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.Y248H|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.Y269H|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.Y269H|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.Y269H|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	269	Helical; Name=4; (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1						CTTCTACTGGTACACCATCAT	0.532													C	31126133	T	C	31126133	3	2	19	1	0	0	0	0	1	0	0	0	303	1638	57	3	839	3	ADCYAP1R1	7	31126133	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	633989	31126133	128012530	1242	15541											
PDE1C	5137	broad.mit.edu	37	chr7	31855637	31855637	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccattgacttgattcttagTttctccagacgtctttttct	5	10	4	3	rs141465381	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:31855637T>C	uc003tcm.1	-	15	2183	c.1714A>G	c.(1714-1716)ACT>GCT	p.T572A	PDE1C_uc003tcn.1_Missense_Mutation_p.T572A|PDE1C_uc003tco.1_Missense_Mutation_p.T632A|PDE1C_uc003tcr.2_Missense_Mutation_p.T572A|PDE1C_uc003tcs.2_Missense_Mutation_p.T572A	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	572					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			TGATTCTTAGTTTCTCCAGAC	0.502													C	31855637	T	C	31855637	3	2	19	1	0	0	0	0	1	0	0	0	11635	1725	60	3	202	3	PDE1C	7	31855637	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	729504	31855637	127283026	1243	15542											
AOAH	313	broad.mit.edu	37	chr7	36713584	36713584	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccaaacttgtcaatgactAaatagcaggtggttttcaag	8	7	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:36713584A>G	uc003tfh.3	-	3	655	c.254T>C	c.(253-255)TTA>TCA	p.L85S	AOAH_uc010kxf.2_Missense_Mutation_p.L85S|AOAH_uc011kba.1_Missense_Mutation_p.L53S	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor	85	Saposin B-type.				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			skin(1)	1						GTCAATGACTAAATAGCAGGT	0.333													G	36713584	A	G	36713584	3	3	19	1	0	0	0	0	1	0	0	0	726	372	13	3	1890	3	AOAH	7	36713584	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	4857947	36713584	122425079	1244	15543											
AMPH	273	broad.mit.edu	37	chr7	38431519	38431519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccggaggagccgcgtcctCggtggtctccttgggctctg	16	14	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:38431519C>T	uc003tgu.2	-	19	1777	c.1708G>A	c.(1708-1710)GAG>AAG	p.E570K	AMPH_uc003tgv.2_Missense_Mutation_p.E528K|AMPH_uc003tgt.2_Missense_Mutation_p.E455K|AMPH_uc003tgw.1_Missense_Mutation_p.E593K|AMPH_uc010kxl.1_RNA	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	570					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						GCCGCGTCCTCGGTGGTCTCC	0.597													T	38431519	C	T	38431519	3	4	19	1	0	0	0	0	1	0	0	0	588	893	31	1	391	1	AMPH	7	38431519	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1717935	38431519	120707144	1245	15544											
GLI3	2737	broad.mit.edu	37	chr7	42005485	42005485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgggaggacagggggaCgagtggaagtttcgggactg	20	5	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:42005485C>T	uc011kbh.1	-	15	3277	c.3186G>A	c.(3184-3186)TCG>TCA	p.S1062S	GLI3_uc011kbg.1_Silent_p.S1003S	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1062					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GACAGGGGGACGAGTGGAAGT	0.642									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42005485	C	T	42005485	2	4	19	1	0	0	0	0	0	0	0	1	6439	523	19	1		1	GLI3	7	42005485	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3573966	42005485	117133178	1246	15545											
GLI3	2737	broad.mit.edu	37	chr7	42006006	42006006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggagtcggccacgctcaCgttctgcggccggccctcgg	15	15	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:42006006C>T	uc011kbh.1	-	15	2756	c.2665G>A	c.(2665-2667)GTG>ATG	p.V889M	GLI3_uc011kbg.1_Missense_Mutation_p.V830M	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	889					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GCCACGCTCACGTTCTGCGGC	0.721									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42006006	C	T	42006006	3	4	19	1	0	0	0	0	1	0	0	0	6439	536	19	1	2081	1	GLI3	7	42006006	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	521	42006006	117132657	1247	15546											
HECW1	23072	broad.mit.edu	37	chr7	43351483	43351483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaccccgaccagttccacaAcatggacctcaggggcggcc	10	17	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:43351483A>G	uc003tid.1	+	4	754	c.149A>G	c.(148-150)AAC>AGC	p.N50S	HECW1_uc011kbi.1_Missense_Mutation_p.N50S|HECW1_uc003tie.1_Missense_Mutation_p.N82S	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	50					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						CAGTTCCACAACATGGACCTC	0.647													G	43351483	A	G	43351483	3	3	19	1	0	0	0	0	1	0	0	0	7042	43	2	3	155	3	HECW1	7	43351483	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1345477	43351483	115787180	1248	15547											
HECW1	23072	broad.mit.edu	37	chr7	43484721	43484721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcccaggatggcgacacGcaccccagcaccgggagcga	15	16	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:43484721G>A	uc003tid.1	+	11	2555	c.1950G>A	c.(1948-1950)ACG>ACA	p.T650T	HECW1_uc011kbi.1_Silent_p.T650T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	650					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						ATGGCGACACGCACCCCAGCA	0.716													A	43484721	G	A	43484721	2	1	19	1	0	0	0	0	0	0	0	1	7042	1074	38	1		1	HECW1	7	43484721	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	133238	43484721	115653942	1249	15548											
BLVRA	644	broad.mit.edu	37	chr7	43840132	43840132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcctgaaaaaagaagtgGtggggaaagacctgctgaaa	12	6	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:43840132G>A	uc003tir.2	+	6	504	c.421G>A	c.(421-423)GTG>ATG	p.V141M	BLVRA_uc010kxv.2_Missense_Mutation_p.V141M	NM_000712	NP_000703	P53004	BIEA_HUMAN	biliverdin reductase A precursor	141					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			ovary(1)	1					NADH(DB00157)	AAAAGAAGTGGTGGGGAAAGA	0.478													A	43840132	G	A	43840132	3	1	19	1	0	0	0	0	1	0	0	0	1451	1261	44	4	439	4	BLVRA	7	43840132	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	355411	43840132	115298531	1250	15549											
TNS3	64759	broad.mit.edu	37	chr7	47336681	47336682	+	Splice_Site	INS	-	-	T													agggagcagtaaccttacctINSttcttgttcagctgcaggac							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:47336680_47336681C>CT	uc003tnw.3	-	24	4034	c.3676_splice	c.e24+1	p.A1226_splice	TNS3_uc022acn.1_Splice_Site_p.A783_splice	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	1226	SH2.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GTAACCTTACCTTTCTTGTTCA	0.46													T	47336682	-	T	47336681	8	5	19	1	0	1	1	0	0	0	1	0	16341	1623	56	0	694	0	TNS3	7	47336681	Splice_Site	INS	-	TCGA-BR-4361-01A-01D-1158-08	3496549	47336681	111801982	1251	15550											
ABCA13	154664	broad.mit.edu	37	chr7	48312524	48312524	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caatatatgagccaattcttCaacagttcagtagaagacct	6	9	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:48312524C>T	uc003toq.2	+	17	3286	c.3261C>T	c.(3259-3261)TTC>TTT	p.F1087F	ABCA13_uc010kyr.2_Silent_p.F590F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1087					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GCCAATTCTTCAACAGTTCAG	0.343													T	48312524	C	T	48312524	2	4	19	1	0	0	0	0	0	0	0	1	31	825	29	4		4	ABCA13	7	48312524	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	975843	48312524	110826139	1252	15551											
FIGNL1	63979	broad.mit.edu	37	chr7	50514060	50514060	+	Frame_Shift_Del	DEL	T	T	-													cacgctgaggttggtggtacTttttttgctgatctacccat							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:50514059_50514059CT>C	uc003tpd.3	-	3	1297	c.927_927AG>G	c.(925-927)aagfs	p.K309fs	FIGNL1_uc003tpb.3_Frame_Shift_Del_p.K198fs|FIGNL1_uc003tpc.3_Frame_Shift_Del_p.K309fs|FIGNL1_uc003tpe.3_Frame_Shift_Del_p.K309fs|FIGNL1_uc010kyy.3_Frame_Shift_Del_p.K309fs|FIGNL1_uc022ada.1_Frame_Shift_Del_p.K309fs	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	309					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				GTTGGTGGTACTTTTTTTGCT	0.428													-	50514060	T	-	50514060	7	5	19	1	0	1	0	1	0	0	0	0	5892	1609	56	0	1102	0	FIGNL1	7	50514060	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	2201536	50514060	108624603	1253	15552											
GUSB	2990	broad.mit.edu	37	chr7	65439552	65439552	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggacactcatcgatgaccAcaatcccatagcggtcacac	8	15	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:65439552A>G	uc003tun.2	-	7	1281	c.1205T>C	c.(1204-1206)GTG>GCG	p.V402A	GUSB_uc011kdt.1_Missense_Mutation_p.V256A	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	402					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0						ATCGATGACCACAATCCCATA	0.627													G	65439552	A	G	65439552	3	3	19	1	0	0	0	0	1	0	0	0	6902	159	6	3	774	3	GUSB	7	65439552	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	14925492	65439552	93699111	1254	15553											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73933830	73933830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacgggactgtggcctgCatggccaggcccccaaggtg	16	13	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:73933830C>T	uc003uaq.2	+	6	1090	c.697C>T	c.(697-699)CAT>TAT	p.H233Y	GTF2IRD1_uc010lbq.2_Missense_Mutation_p.H265Y|GTF2IRD1_uc003uap.2_Missense_Mutation_p.H233Y|GTF2IRD1_uc003uar.1_Missense_Mutation_p.H233Y	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	233						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						CTGTGGCCTGCATGGCCAGGC	0.667													T	73933830	C	T	73933830	3	4	19	1	0	0	0	0	1	0	0	0	6868	710	25	2	715	2	GTF2IRD1	7	73933830	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	8494278	73933830	85204833	1255	15554											
GTF2IRD2B	389524	broad.mit.edu	37	chr7	74564312	74564312	+	Frame_Shift_Del	DEL	A	A	-													ggatatgctcccggggactgAaccacagcgagttcacaacc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:74564312delA	uc003ubt.2	+	16	2274	c.2059delA	c.(2059-2061)AACfs	p.N687fs	GTF2IRD2B_uc010lcd.2_Frame_Shift_Del_p.N440fs|GTF2IRD2B_uc003ubu.2_Frame_Shift_Del_p.N517fs	NM_001003795	NP_001003795	Q6EKJ0	GTD2B_HUMAN	GTF2I repeat domain containing 2B	687					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ccggggactgaaccacagcga	0													-	74564312	A	-	74564312	7	5	19	1	0	1	0	1	0	0	0	0	6870	246	9	0	2117	0	GTF2IRD2B	7	74564312	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	630482	74564312	84574351	1256	15555											
POR	5447	broad.mit.edu	37	chr7	75613126	75613126	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcaaccagctgggcaaaAtcctgggtgccgacctggac	12	13	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:75613126A>G	uc003udy.2	+	10	1100	c.1018A>G	c.(1018-1020)ATC>GTC	p.I340V	POR_uc011kgc.1_Missense_Mutation_p.I148V|POR_uc011kgd.1_Missense_Mutation_p.I239V|POR_uc011kge.1_Missense_Mutation_p.I78V|POR_uc003uea.2_5'Flank	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	337	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	GCTGGGCAAAATCCTGGGTGC	0.637													G	75613126	A	G	75613126	3	3	19	1	0	0	0	0	1	0	0	0	12257	101	4	3	1052	3	POR	7	75613126	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1048814	75613126	83525537	1257	15556											
POR	5447	broad.mit.edu	37	chr7	75614412	75614412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggtggaggcccggaggCacatcctggccatcctgcag	17	12	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:75614412C>T	uc003udy.2	+	12	1367	c.1285C>T	c.(1285-1287)CAC>TAC	p.H429Y	POR_uc011kgc.1_Missense_Mutation_p.H237Y|POR_uc011kgd.1_Missense_Mutation_p.H328Y|POR_uc011kge.1_Missense_Mutation_p.H167Y|POR_uc003uea.2_5'Flank	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	426	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	GGCCCGGAGGCACATCCTGGC	0.682													T	75614412	C	T	75614412	3	4	19	1	0	0	0	0	1	0	0	0	12257	710	25	2	1327	2	POR	7	75614412	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1286	75614412	83524251	1258	15557											
ZP3	7784	broad.mit.edu	37	chr7	76062948	76062948	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcctccccttatcacaccAtcgtggacttccatgggtga	8	14	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:76062948A>G	uc003ufd.3	+	4	707	c.697A>G	c.(697-699)ATC>GTC	p.I233V	ZP3_uc003ufc.3_Missense_Mutation_p.I182V|ZP3_uc003ufe.2_Missense_Mutation_p.I141V	NM_001110354	NP_001103824	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 isoform 1	233	Extracellular (Potential).|ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding				0						TTATCACACCATCGTGGACTT	0.522													G	76062948	A	G	76062948	3	3	19	1	0	0	0	0	1	0	0	0	18214	217	8	3	711	3	ZP3	7	76062948	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	448536	76062948	83075715	1259	15558											
PTPN12	5782	broad.mit.edu	37	chr7	77210806	77210806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagattcagactatatcaatGcaaattttataaaggtatgt	6	4	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:77210806G>A	uc003ugh.2	+	3	362	c.271G>A	c.(271-273)GCA>ACA	p.A91T	PTPN12_uc011kgp.1_5'UTR|PTPN12_uc011kgq.1_5'UTR|PTPN12_uc010ldq.1_Intron|PTPN12_uc010ldr.1_Intron	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	91	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3						CTATATCAATGCAAATTTTAT	0.289													A	77210806	G	A	77210806	3	1	19	1	0	0	0	0	1	0	0	0	12781	1319	46	2	281	2	PTPN12	7	77210806	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1147858	77210806	81927857	1260	15559											
PHTF2	57157	broad.mit.edu	37	chr7	77567056	77567056	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggctccatagttcccaCccaggattagaaaaaataag	7	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:77567056C>T	uc003ugs.3	+	12	1494	c.1368C>T	c.(1366-1368)CAC>CAT	p.H456H	PHTF2_uc003ugp.2_Silent_p.H418H|PHTF2_uc003ugq.3_Silent_p.H418H|PHTF2_uc010ldv.2_Silent_p.H418H|PHTF2_uc003ugt.3_Silent_p.H422H|PHTF2_uc003ugu.3_Silent_p.H418H|PHTF2_uc003ugv.2_Silent_p.H281H|PHTF2_uc010ldw.1_Intron	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1						ATAGTTCCCACCCAGGATTAG	0.284													T	77567056	C	T	77567056	2	4	19	1	0	0	0	0	0	0	0	1	11863	506	18	4		4	PHTF2	7	77567056	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	356250	77567056	81571607	1261	15560											
CD36	948	broad.mit.edu	37	chr7	80295776	80295776	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggaatctgtcctattgggAaagtcactgcgacatgatta	10	7	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:80295776A>G	uc003uhc.2	+	11	1403	c.719A>G	c.(718-720)GAA>GGA	p.E240G	CD36_uc003uhd.3_Missense_Mutation_p.E240G|CD36_uc011kgv.1_Missense_Mutation_p.E164G|CD36_uc003uhe.3_Missense_Mutation_p.E240G|CD36_uc003uhf.3_Missense_Mutation_p.E240G|CD36_uc003uhg.3_Missense_Mutation_p.E240G|CD36_uc003uhh.3_Missense_Mutation_p.E240G	NM_001127444	NP_001120916	P16671	CD36_HUMAN	CD36 antigen	240	Extracellular (Potential).				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			ovary(1)	1						TCCTATTGGGAAAGTCACTGC	0.328													G	80295776	A	G	80295776	3	3	19	1	0	0	0	0	1	0	0	0	3007	246	9	3	741	3	CD36	7	80295776	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2728720	80295776	78842887	1262	15561											
PCLO	27445	broad.mit.edu	37	chr7	82595551	82595551	+	Frame_Shift_Del	DEL	T	T	-													tgtggttaccataggaggaaTtttttccattgatagtgttt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:82595550_82595550AT>A	uc003uhx.2	-	3	3843	c.3554_3554AT>T	c.(3553-3555)attfs	p.I1185fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.I1185fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1124					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.K1184T(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CATAGGAGGAATTTTTTCCAT	0.348													-	82595551	T	-	82595551	7	5	19	1	0	1	0	1	0	0	0	0	11583	1493	52	0	11980	0	PCLO	7	82595551	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	2299775	82595551	76543112	1263	15562											
PCLO	27445	broad.mit.edu	37	chr7	82785212	82785212	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtacctggaggttgtgAtttaattttttctggttgtt	10	5	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:82785212A>T	uc003uhx.2	-	2	1034	c.745T>A	c.(745-747)TCA>ACA	p.S249T	PCLO_uc003uhv.2_Missense_Mutation_p.S249T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	249	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GGAGGTTGTGATTTAATTTTT	0.488													T	82785212	A	T	82785212	3	4	19	1	0	0	0	0	1	0	0	0	11583	333	12	5	14796	5	PCLO	7	82785212	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	189661	82785212	76353451	1264	15563											
SEMA3A	10371	broad.mit.edu	37	chr7	83758471	83758471	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccagcccacttgcattcatCtcttctggtgtaagatactg	7	12	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:83758471C>T	uc003uhz.2	-	3	616	c.301G>A	c.(301-303)GAT>AAT	p.D101N		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	101	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						TTGCATTCATCTCTTCTGGTG	0.289													T	83758471	C	T	83758471	3	4	19	1	0	0	0	0	1	0	0	0	14024	913	32	4	2074	4	SEMA3A	7	83758471	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	973259	83758471	75380192	1265	15564											
GRM3	2913	broad.mit.edu	37	chr7	86416344	86416344	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgcagcgcaccctctgTcccaacactaccaagctttg	6	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:86416344T>C	uc003uid.2	+	3	2335	c.1236T>C	c.(1234-1236)TGT>TGC	p.C412C	GRM3_uc010lef.2_Silent_p.C410C|GRM3_uc010leg.2_Silent_p.C284C|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	412	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCACCCTCTGTCCCAACACTA	0.488													C	86416344	T	C	86416344	2	2	19	1	0	0	0	0	0	0	0	1	6798	1673	58	3		3	GRM3	7	86416344	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2657873	86416344	72722319	1266	15565											
ABCB1	5243	broad.mit.edu	37	chr7	87173466	87173466	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctataatctttgaaaatatTattgcaaatgctggttgcag	7	6	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:87173466T>C	uc003uiz.1	-	18	2608	c.2190A>G	c.(2188-2190)ATA>ATG	p.I730M	ABCB1_uc011khc.1_Missense_Mutation_p.I666M	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	730	ABC transmembrane type-1 2.|Helical; (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTGAAAATATTATTGCAAATG	0.358													C	87173466	T	C	87173466	3	2	19	1	0	0	0	0	1	0	0	0	40	1744	61	3	1700	3	ABCB1	7	87173466	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	757122	87173466	71965197	1267	15566											
RUNDC3B	154661	broad.mit.edu	37	chr7	87258157	87258157	+	Frame_Shift_Del	DEL	G	G	-													gccatggcctcccggagcctGgggggcctgagcgggatccg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:87258157delG	uc003ujb.2	+	1	429	c.18delG	c.(16-18)CTGfs	p.L6fs	ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Frame_Shift_Del_p.L6fs|RUNDC3B_uc011khe.1_Frame_Shift_Del_p.L6fs|RUNDC3B_uc003ujc.2_Frame_Shift_Del_p.L6fs	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	6										skin(1)	1	Esophageal squamous(14;0.00164)					CCCGGAGCCTGGGGGGCCTGA	0.701													-	87258157	G	-	87258157	7	5	19	1	0	1	0	1	0	0	0	0	13745	1335	47	0	20	0	RUNDC3B	7	87258157	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	84691	87258157	71880506	1268	15567											
ADAM22	53616	broad.mit.edu	37	chr7	87780626	87780626	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagacaatgcaaatacattTgggggcaaagtaagtaaata	9	4	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:87780626T>C	uc003ujn.2	+	20	1751	c.1672T>C	c.(1672-1674)TGG>CGG	p.W558R	ADAM22_uc003ujk.1_Missense_Mutation_p.W558R|ADAM22_uc003ujl.1_Missense_Mutation_p.W558R|ADAM22_uc003ujm.2_Missense_Mutation_p.W558R|ADAM22_uc003ujo.2_Missense_Mutation_p.W558R|ADAM22_uc003ujp.1_Missense_Mutation_p.W610R	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	558	Cys-rich.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAAATACATTTGGGGGCAAAG	0.398													C	87780626	T	C	87780626	3	2	19	1	0	0	0	0	1	0	0	0	244	1812	63	3	1750	3	ADAM22	7	87780626	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	522469	87780626	71358037	1269	15568											
C7orf63	79846	broad.mit.edu	37	chr7	89939383	89939383	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttttgcctttttaggTgccctctggtggagtagtaa	10	8	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:89939383T>C	uc010lep.2	+	23	2908	c.2657T>C	c.(2656-2658)GTG>GCG	p.V886A	C7orf63_uc011khj.1_Missense_Mutation_p.V868A|C7orf63_uc011khk.1_Missense_Mutation_p.V402A	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	hypothetical protein LOC79846 isoform 1	886							binding			ovary(1)	1						CCTTTTTAGGTGCCCTCTGGT	0.393													C	89939383	T	C	89939383	3	2	19	1	0	0	0	0	1	0	0	0	2409	1710	59	3	2747	3	C7orf63	7	89939383	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2158757	89939383	69199280	1270	15569											
CLDN12	9069	broad.mit.edu	37	chr7	90042450	90042450	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctctccccatctatctggGtcatcttttataacatccat	4	14	5	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:90042450G>T	uc003ukp.2	+	5	1096	c.460G>T	c.(460-462)GTC>TTC	p.V154F	CLDN12_uc003ukq.2_Missense_Mutation_p.V154F|CLDN12_uc010leq.2_Missense_Mutation_p.V154F|CLDN12_uc003ukr.2_Missense_Mutation_p.V154F|CLDN12_uc003uks.2_Missense_Mutation_p.V154F	NM_012129	NP_036261	P56749	CLD12_HUMAN	claudin 12	154	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						ATCTATCTGGGTCATCTTTTA	0.473													T	90042450	G	T	90042450	3	4	19	1	0	0	0	0	1	0	0	0	3474	1261	44	5	462	5	CLDN12	7	90042450	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	103067	90042450	69096213	1271	15570											
CDK14	5218	broad.mit.edu	37	chr7	90546964	90546964	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttacatccaccagcgtTatattttgcacagagacctg	7	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:90546964T>C	uc003uky.2	+	8	973	c.751T>C	c.(751-753)TAT>CAT	p.Y251H	CDK14_uc003ukz.1_Missense_Mutation_p.Y233H|CDK14_uc010les.1_Missense_Mutation_p.Y205H|CDK14_uc011khl.1_Missense_Mutation_p.Y122H	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	251	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4						CCACCAGCGTTATATTTTGCA	0.413													C	90546964	T	C	90546964	3	2	19	1	0	0	0	0	1	0	0	0	3130	1754	61	3	723	3	CDK14	7	90546964	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	504514	90546964	68591699	1272	15571											
FZD1	8321	broad.mit.edu	37	chr7	90894774	90894774	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccgctccctgtgcgagcgCgcgcgccagggctgcgaggc	17	16	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:90894774C>A	uc003ula.2	+	1	992	c.579C>A	c.(577-579)CGC>CGA	p.R193R		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	193	FZ.|Extracellular (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGTGCGAGCGCGCGCGCCAGG	0.662													A	90894774	C	A	90894774	2	1	19	1	0	0	0	0	0	0	0	1	6128	755	27	5		5	FZD1	7	90894774	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	347810	90894774	68243889	1273	15572											
AKAP9	10142	broad.mit.edu	37	chr7	91736658	91736658	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctggtgggctggagttatAtggagaaccaagacatacta	12	6	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:91736658A>G	uc003ulg.2	+	48	11693	c.11468A>G	c.(11467-11469)TAT>TGT	p.Y3823C	AKAP9_uc003ulf.2_Missense_Mutation_p.Y3815C|AKAP9_uc003uli.2_Missense_Mutation_p.Y3446C|AKAP9_uc003ulj.2_Missense_Mutation_p.Y1593C|AKAP9_uc003ull.2_Missense_Mutation_p.Y719C	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3827					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGGAGTTATATGGAGAACCA	0.373			T	BRAF	papillary thyroid								G	91736658	A	G	91736658	3	3	19	1	0	0	0	0	1	0	0	0	459	449	16	3	11658	3	AKAP9	7	91736658	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	841884	91736658	67402005	1274	15573											
SAMD9	54809	broad.mit.edu	37	chr7	92732009	92732009	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcctccgttttcctctatCcaccatcttattttactttt	1	13	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:92732009C>T	uc003umf.2	-	3	3658	c.3402G>A	c.(3400-3402)TGG>TGA	p.W1134*	SAMD9_uc003umg.2_Nonsense_Mutation_p.W1134*	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1134						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTCCTCTATCCACCATCTTA	0.373													T	92732009	C	T	92732009	4	4	19	1	0	0	0	0	0	1	0	0	13826	856	30	4	1371	4	SAMD9	7	92732009	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	995351	92732009	66406654	1275	15574											
SAMD9L	219285	broad.mit.edu	37	chr7	92761452	92761452	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgggtatacctcattttcAgaagaaccatataatcaata	5	7	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:92761452A>G	uc003umh.1	-	5	5049	c.3833T>C	c.(3832-3834)CTG>CCG	p.L1278P	SAMD9L_uc003umj.1_Missense_Mutation_p.L1278P|SAMD9L_uc003umi.1_Missense_Mutation_p.L1278P|SAMD9L_uc010lfb.1_Missense_Mutation_p.L1278P|SAMD9L_uc003umk.1_Missense_Mutation_p.L1278P|SAMD9L_uc010lfc.1_Missense_Mutation_p.L1278P|SAMD9L_uc010lfd.1_Missense_Mutation_p.L1278P|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1278										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCTCATTTTCAGAAGAACCAT	0.328													G	92761452	A	G	92761452	3	3	19	1	0	0	0	0	1	0	0	0	13827	188	7	3	925	3	SAMD9L	7	92761452	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	29443	92761452	66377211	1276	15575											
SAMD9L	219285	broad.mit.edu	37	chr7	92763789	92763789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaggtctgatctgccgTtgcagaaaatccagctgggc	11	10	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:92763789T>C	uc003umh.1	-	5	2712	c.1496A>G	c.(1495-1497)AAC>AGC	p.N499S	SAMD9L_uc003umj.1_Missense_Mutation_p.N499S|SAMD9L_uc003umi.1_Missense_Mutation_p.N499S|SAMD9L_uc010lfb.1_Missense_Mutation_p.N499S|SAMD9L_uc003umk.1_Missense_Mutation_p.N499S|SAMD9L_uc010lfc.1_Missense_Mutation_p.N499S|SAMD9L_uc010lfd.1_Missense_Mutation_p.N499S|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	499										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGATCTGCCGTTGCAGAAAAT	0.388													C	92763789	T	C	92763789	3	2	19	1	0	0	0	0	1	0	0	0	13827	1725	60	3	3262	3	SAMD9L	7	92763789	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2337	92763789	66374874	1277	15576											
COL1A2	1278	broad.mit.edu	37	chr7	94057063	94057063	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaccttctctcagacccaAggactatgaagttgatgcta	8	11	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:94057063A>C	uc003ung.1	+	49	3863	c.3392A>C	c.(3391-3393)AAG>ACG	p.K1131T	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1131					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTCAGACCCAAGGACTATGAA	0.517										HNSCC(75;0.22)			C	94057063	A	C	94057063	3	2	19	1	0	0	0	0	1	0	0	0	3678	72	3	5	3586	5	COL1A2	7	94057063	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1293274	94057063	65081600	1278	15577											
SLC25A13	10165	broad.mit.edu	37	chr7	95751045	95751045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccaaactggggtgaggatCgaaatacacgagctttaaaa	10	8	0	1	rs121908532		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:95751045C>T	uc003uof.3	-	17	1954	c.1763G>A	c.(1762-1764)CGA>CAA	p.R588Q	SLC25A13_uc003uog.3_Missense_Mutation_p.R589Q|SLC25A13_uc011kik.1_Missense_Mutation_p.R480Q	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	588	Solcar 3.|Helical; Name=6; (Potential).				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GGGTGAGGATCGAAATACACG	0.338													T	95751045	C	T	95751045	3	4	19	1	0	0	0	0	1	0	0	0	14475	884	31	1	272	1	SLC25A13	7	95751045	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1693982	95751045	63387618	1279	15578											
SLC25A13	10165	broad.mit.edu	37	chr7	95864143	95864143	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctcctttgccagctttgTcaaacagctgaaaggctacc	7	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:95864143T>C	uc003uof.3	-	4	490	c.299A>G	c.(298-300)GAC>GGC	p.D100G	SLC25A13_uc003uog.3_Missense_Mutation_p.D100G|SLC25A13_uc011kik.1_Intron	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	100	EF-hand 2.|2.				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GCCAGCTTTGTCAAACAGCTG	0.383													C	95864143	T	C	95864143	3	2	19	1	0	0	0	0	1	0	0	0	14475	1667	58	3	1791	3	SLC25A13	7	95864143	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	113098	95864143	63274520	1280	15579											
TECPR1	25851	broad.mit.edu	37	chr7	97866138	97866138	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccggtcacactctcgggcCgcgatgatggctttccaggt	13	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:97866138C>T	uc003upg.2	-	10	1336	c.1131G>A	c.(1129-1131)GCG>GCA	p.A377A	TECPR1_uc003uph.1_Silent_p.A307A	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	377						integral to membrane	protein binding			pancreas(1)	1						ACTCTCGGGCCGCGATGATGG	0.647													T	97866138	C	T	97866138	2	4	19	1	0	0	0	0	0	0	0	1	15740	639	23	1		1	TECPR1	7	97866138	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2001995	97866138	61272525	1281	15580											
TRRAP	8295	broad.mit.edu	37	chr7	98552728	98552728	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccctgttttaggtttttcAtagtctcctcaaggctcacg	7	11	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:98552728A>G	uc003upp.2	+	40	5926	c.5717A>G	c.(5716-5718)CAT>CGT	p.H1906R	TRRAP_uc011kis.1_Missense_Mutation_p.H1888R|TRRAP_uc003upr.2_Missense_Mutation_p.H1605R	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1906					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TAGGTTTTTCATAGTCTCCTC	0.517													G	98552728	A	G	98552728	3	3	19	1	0	0	0	0	1	0	0	0	16598	217	8	3	5813	3	TRRAP	7	98552728	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	686590	98552728	60585935	1282	15581											
TRRAP	8295	broad.mit.edu	37	chr7	98589802	98589802	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtctactttcccatccggAccctgtacctgaccctgaaa	7	16	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:98589802A>G	uc003upp.2	+	64	10020	c.9811A>G	c.(9811-9813)ACC>GCC	p.T3271A	TRRAP_uc011kis.1_Missense_Mutation_p.T3242A|TRRAP_uc003upr.2_Missense_Mutation_p.T2959A	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3271	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCATCCGGACCCTGTACCT	0.567													G	98589802	A	G	98589802	3	3	19	1	0	0	0	0	1	0	0	0	16598	275	10	3	9970	3	TRRAP	7	98589802	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	37074	98589802	60548861	1283	15582											
ARPC1A	10552	broad.mit.edu	37	chr7	98957253	98957253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttagatattccaaaacagaGcatccaacgcaacatgtctg	7	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:98957253G>A	uc003upx.1	+	8	1022	c.875G>A	c.(874-876)AGC>AAC	p.S292N	ARPC1A_uc010lfu.1_RNA|ARPC1A_uc003upy.1_Missense_Mutation_p.S278N|ARPC1A_uc011kit.1_RNA	NM_006409	NP_006400	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex subunit 1A	292					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			ovary(1)	1	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			CCAAAACAGAGCATCCAACGC	0.527													A	98957253	G	A	98957253	3	1	19	1	0	0	0	0	1	0	0	0	969	971	34	2	901	2	ARPC1A	7	98957253	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	367451	98957253	60181410	1284	15583											
CPSF4	10898	broad.mit.edu	37	chr7	99042427	99042427	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacagagtcgggcgctgctgTctgtgaattctttttgaaag	12	7	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:99042427T>C	uc003uqj.2	+	2	262	c.119T>C	c.(118-120)GTC>GCC	p.V40A	PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Missense_Mutation_p.V40A|CPSF4_uc003uqk.2_Missense_Mutation_p.V40A|CPSF4_uc011kix.1_5'UTR	NM_006693	NP_006684	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4,	40	C3H1-type 1.				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGCGCTGCTGTCTGTGAATTC	0.542													C	99042427	T	C	99042427	3	2	19	1	0	0	0	0	1	0	0	0	3828	1667	58	3	125	3	CPSF4	7	99042427	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	85174	99042427	60096236	1285	15584											
ZNF498	221785	broad.mit.edu	37	chr7	99219142	99219142	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggtccagacccaggtacCgaggagcagctcagtcagga	13	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:99219142C>T	uc003url.1	+	5	861	c.534C>T	c.(532-534)ACC>ACT	p.T178T	ZNF498_uc003urm.1_Silent_p.T14T|ZNF498_uc010lge.1_Silent_p.T14T|ZNF498_uc003urn.2_RNA|ZNF498_uc010lgf.1_Silent_p.T178T|ZNF498_uc003uro.1_5'UTR	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	178					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ACCCAGGTACCGAGGAGCAGC	0.607													T	99219142	C	T	99219142	2	4	19	1	0	0	0	0	0	0	0	1	17944	639	23	1		1	ZNF498	7	99219142	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	176715	99219142	59919521	1286	15585											
CYP3A7	1551	broad.mit.edu	37	chr7	99305499	99305499	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactagagcaagtttcatgTtcacgagagcaaacctcatg	9	9	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:99305499T>C	uc003uru.2	-	12	1457	c.1352A>G	c.(1351-1353)AAC>AGC	p.N451S	ZNF498_uc003urn.2_RNA|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	451					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AAGTTTCATGTTCACGAGAGC	0.383													C	99305499	T	C	99305499	3	2	19	1	0	0	0	0	1	0	0	0	4181	1725	60	3	167	3	CYP3A7	7	99305499	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	86357	99305499	59833164	1287	15586											
TRIM4	89122	broad.mit.edu	37	chr7	99489911	99489913	+	In_Frame_Del	DEL	AGA	AGA	-													cactccgtccacagcgctgtAgaaggagacattcccagtcc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:99489910_99489912TAGA>T	uc003usd.3	-	6	1576_1578	c.1377_1379TCTA>A	c.(1375-1380)ttctac>ttAc	p.459_460FY>L	TRIM4_uc003use.3_In_Frame_Del_p.433_434FY>L|TRIM4_uc011kjc.2_In_Frame_Del_p.289_290FY>L	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.	459	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	p.F459S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CACAGCGCTGTAGAAGGAGACAT	0.532													-	99489913	AGA	-	99489911	7	5	19	1	0	1	0	1	0	0	0	0	16511	420	15	0	128	0	TRIM4	7	99489911	In_Frame_Del	DEL	AGA	TCGA-BR-4361-01A-01D-1158-08	184412	99489911	59648752	1288	15587											
TAF6	6878	broad.mit.edu	37	chr7	99705994	99705994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacccggccacggacctgcGtgatggtcagagtggtcctg	14	14	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:99705994G>A	uc003uti.2	-	13	1535	c.1454C>T	c.(1453-1455)ACG>ATG	p.T485M	AP4M1_uc003utd.2_Intron|TAF6_uc003utg.2_Missense_Mutation_p.T407M|TAF6_uc003uth.2_Missense_Mutation_p.T542M|TAF6_uc003utk.2_Missense_Mutation_p.T485M|TAF6_uc011kji.1_Missense_Mutation_p.T522M|TAF6_uc003utj.2_Missense_Mutation_p.T475M|TAF6_uc003utl.2_Intron|TAF6_uc003utm.2_Missense_Mutation_p.T485M	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	485					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACGGACCTGCGTGATGGTCAG	0.642													A	99705994	G	A	99705994	3	1	19	1	0	0	0	0	1	0	0	0	15527	1145	40	1	591	1	TAF6	7	99705994	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	216083	99705994	59432669	1289	15588											
GAL3ST4	79690	broad.mit.edu	37	chr7	99757831	99757831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggcgagcccggagctcgGccacagctgtctgcagccgg	15	16	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:99757831G>A	uc003utt.2	-	3	2198	c.1181C>T	c.(1180-1182)GCC>GTC	p.A394V	C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.A394V|GAL3ST4_uc010lgq.2_Missense_Mutation_p.A332V	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	394	Lumenal (Potential).				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCGGAGCTCGGCCACAGCTGT	0.612													A	99757831	G	A	99757831	3	1	19	1	0	0	0	0	1	0	0	0	6200	1203	42	2	283	2	GAL3ST4	7	99757831	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	51837	99757831	59380832	1290	15589											
AGFG2	3268	broad.mit.edu	37	chr7	100160555	100160555	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaacccgttccagcccaAtggcttggcgccaggtaagc	10	16	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:100160555A>C	uc003uvf.2	+	9	1293	c.1157A>C	c.(1156-1158)AAT>ACT	p.N386T	AGFG2_uc010lgy.2_Intron	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	386	Pro-rich.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1						TTCCAGCCCAATGGCTTGGCG	0.602													C	100160555	A	C	100160555	3	2	19	1	0	0	0	0	1	0	0	0	381	101	4	5	1191	5	AGFG2	7	100160555	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	402724	100160555	58978108	1291	15590											
LRCH4	4034	broad.mit.edu	37	chr7	100172795	100172795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaccacgtagaagacgaCgaagccgcccagaccagagg	14	12	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:100172795C>T	uc003uvj.2	-	18	2040	c.1987G>A	c.(1987-1989)GTC>ATC	p.V663I	uc003uvh.2_5'Flank|LRCH4_uc010lgz.2_RNA|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjw.1_3'UTR	NM_002319	NP_002310	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH)	663					nervous system development	PML body	protein binding			large_intestine(1)|ovary(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TAGAAGACGACGAAGCCGCCC	0.682													T	100172795	C	T	100172795	3	4	19	1	0	0	0	0	1	0	0	0	8935	536	19	1	68	1	LRCH4	7	100172795	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	12240	100172795	58965868	1292	15591											
TFR2	7036	broad.mit.edu	37	chr7	100218519	100218519	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagacatccccgctaagCgcattggctgccccttgcag	9	16	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:100218519C>T	uc003uvv.1	-	18	2408	c.2367G>A	c.(2365-2367)GCG>GCA	p.A789A	TFR2_uc010lhc.1_Silent_p.A330A|TFR2_uc003uvu.1_Silent_p.A618A	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	transferrin receptor 2	789	Extracellular (Potential).				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			ovary(1)|pancreas(1)	2	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCGCTAAGCGCATTGGCTG	0.632													T	100218519	C	T	100218519	2	4	19	1	0	0	0	0	0	0	0	1	15808	755	27	1		1	TFR2	7	100218519	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	45724	100218519	58920144	1293	15592											
GIGYF1	64599	broad.mit.edu	37	chr7	100285025	100285025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcagctgtcaccacggccGcggcctagagaagaggccag	14	13	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:100285025G>A	uc003uwg.1	-	5	1387	c.378C>T	c.(376-378)CGC>CGT	p.R126R		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	126										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CACCACGGCCGCGGCCTAGAG	0.612													A	100285025	G	A	100285025	2	1	19	1	0	0	0	0	0	0	0	1	6377	1074	38	1		1	GIGYF1	7	100285025	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	66506	100285025	58853638	1294	15593											
ZAN	7455	broad.mit.edu	37	chr7	100352870	100352870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgccctccaaatgcccGctacgaatcctgtgcttgtc	9	16	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:100352870G>A	uc003uwj.2	+	15	3311	c.3146G>A	c.(3145-3147)CGC>CAC	p.R1049H	ZAN_uc003uwk.2_Missense_Mutation_p.R1049H|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1049	TIL 1.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAAATGCCCGCTACGAATCC	0.572													A	100352870	G	A	100352870	3	1	19	1	0	0	0	0	1	0	0	0	17510	1087	38	1	3200	1	ZAN	7	100352870	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	67845	100352870	58785793	1295	15594											
EPHB4	2050	broad.mit.edu	37	chr7	100414922	100414922	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccgcttcagcccccgcaGctctgcccggttttctgacg	9	19	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:100414922G>A	uc003uwn.1	-	8	1971	c.1480C>T	c.(1480-1482)CTG>TTG	p.L494L	EPHB4_uc003uwm.1_Silent_p.L401L|EPHB4_uc010lhj.1_Silent_p.L494L|EPHB4_uc011kkf.1_Silent_p.L494L|EPHB4_uc011kkg.1_Missense_Mutation_p.A289V	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	494	Extracellular (Potential).|Fibronectin type-III 2.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGCCCCCGCAGCTCTGCCCGG	0.692													A	100414922	G	A	100414922	2	1	19	1	0	0	0	0	0	0	0	1	5177	962	34	2		2	EPHB4	7	100414922	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	62052	100414922	58723741	1296	15595											
ZNHIT1	10467	broad.mit.edu	37	chr7	100866977	100866977	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtgtggccgagggcccTaactacctgacggcctgtgc	14	12	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:100866977T>C	uc003uye.2	+	4	789	c.297T>C	c.(295-297)CCT>CCC	p.P99P	ZNHIT1_uc003uyf.2_RNA	NM_006349	NP_006340	O43257	ZNHI1_HUMAN	zinc finger, HIT domain containing 1	99							metal ion binding|protein binding			large_intestine(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)					CCGAGGGCCCTAACTACCTGA	0.677													C	100866977	T	C	100866977	2	2	19	1	0	0	0	0	0	0	0	1	18203	1509	53	3		3	ZNHIT1	7	100866977	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	452055	100866977	58271686	1297	15596											
DNAJC2	27000	broad.mit.edu	37	chr7	102962467	102962467	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgccagcaatgcttgctgtCtgacttcctcctcttctttc	6	14	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:102962467C>T	uc003vbo.2	-	10	1246	c.995G>A	c.(994-996)AGA>AAA	p.R332K	PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_5'UTR|DNAJC2_uc010lix.2_Missense_Mutation_p.R332K|DNAJC2_uc003vbp.2_5'UTR	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	332					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			kidney(1)	1						TGCTTGCTGTCTGACTTCCTC	0.378													T	102962467	C	T	102962467	3	4	19	1	0	0	0	0	1	0	0	0	4639	913	32	4	902	4	DNAJC2	7	102962467	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2095490	102962467	56176196	1298	15597											
MLL5	55904	broad.mit.edu	37	chr7	104707214	104707214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatggggattgataggcagCatattcctgatacatatcta	10	7	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:104707214C>T	uc003vcm.2	+	6	991	c.457C>T	c.(457-459)CAT>TAT	p.H153Y	MLL5_uc010lja.1_Missense_Mutation_p.H7Y|MLL5_uc010ljb.1_Missense_Mutation_p.H153Y|MLL5_uc003vcl.2_Missense_Mutation_p.H153Y|MLL5_uc010ljc.2_Missense_Mutation_p.H153Y	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	153	PHD-type.				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						TGATAGGCAGCATATTCCTGA	0.323													T	104707214	C	T	104707214	3	4	19	1	0	0	0	0	1	0	0	0	9624	710	25	2	471	2	MLL5	7	104707214	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1744747	104707214	54431449	1299	15598											
PUS7	54517	broad.mit.edu	37	chr7	105122810	105122810	+	Frame_Shift_Del	DEL	T	T	-													gctctcccaatttcagtgggTttttttgatagctgaaattc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:105122809_105122809GT>G	uc010lji.3	-	7	1025	c.1017_1017AC>C	c.(1015-1017)aacfs	p.N339fs	PUS7_uc003vcx.3_Frame_Shift_Del_p.N333fs|PUS7_uc003vcy.3_Frame_Shift_Del_p.N333fs|PUS7_uc003vcz.1_Frame_Shift_Del_p.N333fs	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.	333					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						ATTTCAGTGGGTTTTTTTGAT	0.413													-	105122810	T	-	105122810	7	5	19	1	0	1	0	1	0	0	0	0	12833	1725	60	0	1023	0	PUS7	7	105122810	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	415596	105122810	54015853	1300	15599											
PIK3CG	5294	broad.mit.edu	37	chr7	106513320	106513320	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtccaagtaatcgagatgTtacaaaaagtcacccttgat	7	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:106513320T>C	uc003vdv.3	+	4	2309	c.2224T>C	c.(2224-2226)TTA>CTA	p.L742L	PIK3CG_uc003vdu.2_Silent_p.L742L|PIK3CG_uc003vdw.2_Silent_p.L742L	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	742					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						AATCGAGATGTTACAAAAAGT	0.453													C	106513320	T	C	106513320	2	2	19	1	0	0	0	0	0	0	0	1	11916	1722	60	3		3	PIK3CG	7	106513320	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1390510	106513320	52625343	1301	15600											
COG5	10466	broad.mit.edu	37	chr7	106964925	106964925	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagaagaaagtgcctgagtAactgaattccaaaatgtgta	10	5	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:106964925A>G	uc003ved.2	-	11	1686	c.1161T>C	c.(1159-1161)GTT>GTC	p.V387V	COG5_uc003vec.2_Silent_p.V387V|COG5_uc003vee.2_Silent_p.V387V	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	387					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						GTGCCTGAGTAACTGAATTCC	0.249													G	106964925	A	G	106964925	2	3	19	1	0	0	0	0	0	0	0	1	3661	349	13	3		3	COG5	7	106964925	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	451605	106964925	52173738	1302	15601											
GPR22	2845	broad.mit.edu	37	chr7	107114677	107114677	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattgtgttgggacttggcAgcaacctcactgtattggta	11	7	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:107114677A>G	uc003vef.2	+	3	1518	c.172A>G	c.(172-174)AGC>GGC	p.S58G	COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron	NM_005295	NP_005286	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	58	Helical; Name=1; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2						GGGACTTGGCAGCAACCTCAC	0.358													G	107114677	A	G	107114677	3	3	19	1	0	0	0	0	1	0	0	0	6682	188	7	3	174	3	GPR22	7	107114677	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	149752	107114677	52023986	1303	15602											
C7orf60	154743	broad.mit.edu	37	chr7	112535788	112535788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattttggaaatattctctGcatacactacaagtaaaaat	4	8	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:112535788G>A	uc003vgo.1	-	3	436	c.309C>T	c.(307-309)TGC>TGT	p.C103C	C7orf60_uc011kms.1_Silent_p.C129C	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	hypothetical protein LOC154743	103										ovary(2)|skin(1)	3						AATATTCTCTGCATACACTAC	0.338													A	112535788	G	A	112535788	2	1	19	1	0	0	0	0	0	0	0	1	2407	1311	46	2		2	C7orf60	7	112535788	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	5421111	112535788	46602875	1304	15603											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518398	113518399	+	Frame_Shift_Ins	INS	-	-	A													atttcagtatgatgtttggaINSaaaaggagagctattctgag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:113518397_113518398G>GA	uc010ljy.1	-	3	2780_2781	c.2749_2750C>TC	c.(2749-2751)tccfs	p.S917fs		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	917					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATGATGTTTGGAAAAAGGAGAG	0.396													A	113518399	-	A	113518398	7	5	19	1	0	1	1	0	0	0	0	0	12371	246	9	0	623	0	PPP1R3A	7	113518398	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	982610	113518398	45620265	1305	15604											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558625	113558625	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaactcgaataataccctTgatacttgtagacccaagaa	5	10	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:113558625T>C	uc010ljy.1	-	1	458	c.427A>G	c.(427-429)AAG>GAG	p.K143E		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	143	CBM21.				glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						ATAATACCCTTGATACTTGTA	0.348													C	113558625	T	C	113558625	3	2	19	1	0	0	0	0	1	0	0	0	12371	1821	63	3	2957	3	PPP1R3A	7	113558625	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	40227	113558625	45580038	1306	15605											
CAV1	857	broad.mit.edu	37	chr7	116199315	116199315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaatattcagcaatgtcCgcatcaacttgcagaaagaa	8	8	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:116199315C>T	uc003vif.1	+	3	789	c.511C>T	c.(511-513)CGC>TGC	p.R171C	CAV1_uc010lkd.1_Missense_Mutation_p.R140C|CAV1_uc010lke.1_Missense_Mutation_p.R140C|CAV1_uc003vig.1_RNA|CAV1_uc003vih.2_Missense_Mutation_p.R140C|CAV1_uc010lkf.1_Missense_Mutation_p.R140C	NM_001753	NP_001744	Q03135	CAV1_HUMAN	caveolin 1	171	Cytoplasmic (Potential).				blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization	apical plasma membrane|basolateral plasma membrane|caveola|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm	cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding				0	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			CAGCAATGTCCGCATCAACTT	0.393													T	116199315	C	T	116199315	3	4	19	1	0	0	0	0	1	0	0	0	2693	652	23	1	521	1	CAV1	7	116199315	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2640690	116199315	42939348	1307	15606											
ST7	7982	broad.mit.edu	37	chr7	116849978	116849978	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttgaatcttttgcattgTacgtgggaaggcagtaagta	12	5	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:116849978T>C	uc003vin.2	+	13	1606	c.1392T>C	c.(1390-1392)TGT>TGC	p.C464C	ST7_uc011knl.1_Silent_p.C441C|ST7_uc003vio.2_Silent_p.C441C|ST7_uc003viq.2_Silent_p.C418C|ST7_uc011knm.1_Silent_p.C421C|ST7_uc003vir.2_Splice_Site_p.S389_splice|ST7_uc011knn.1_Silent_p.C412C|ST7OT3_uc003viy.1_RNA	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	464						integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TTTTGCATTGTACGTGGGAAG	0.358													C	116849978	T	C	116849978	2	2	19	1	0	0	0	0	0	0	0	1	15228	1644	57	3		3	ST7	7	116849978	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	650663	116849978	42288685	1308	15607											
CTTNBP2	83992	broad.mit.edu	37	chr7	117374995	117374995	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caactttccttcgtaagaacCtctgcagcagtccttgcatg	7	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:117374995C>A	uc003vjf.2	-	16	3940	c.3848G>T	c.(3847-3849)AGG>ATG	p.R1283M		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1283										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCGTAAGAACCTCTGCAGCAG	0.388													A	117374995	C	A	117374995	3	1	19	1	0	0	0	0	1	0	0	0	4045	681	24	5	1175	5	CTTNBP2	7	117374995	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	525017	117374995	41763668	1309	15608											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432544	117432544	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acgaagctgttcccgctcagTgtcaaactcagagagttgtt	10	10	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:117432544T>A	uc003vjf.2	-	4	798	c.706A>T	c.(706-708)ACT>TCT	p.T236S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	236	Potential.									ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCCCGCTCAGTGTCAAACTCA	0.448													A	117432544	T	A	117432544	3	1	19	1	0	0	0	0	1	0	0	0	4045	1696	59	5	4365	5	CTTNBP2	7	117432544	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	57549	117432544	41706119	1310	15609											
PTPRZ1	5803	broad.mit.edu	37	chr7	121651002	121651002	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaatgcttccgaagattcAacttcatcaggttcagaaga	8	8	4	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:121651002A>G	uc003vjy.2	+	12	2297	c.1902A>G	c.(1900-1902)TCA>TCG	p.S634S	PTPRZ1_uc003vjz.2_Silent_p.S634S|PTPRZ1_uc011knt.1_Silent_p.S84S	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	634	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						CCGAAGATTCAACTTCATCAG	0.408													G	121651002	A	G	121651002	2	3	19	1	0	0	0	0	0	0	0	1	12814	117	5	3		3	PTPRZ1	7	121651002	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	4218458	121651002	37487661	1311	15610											
PTPRZ1	5803	broad.mit.edu	37	chr7	121652965	121652965	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtaccttctttgtacagtAatgatgagttgttccaaacg	9	7	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:121652965A>G	uc003vjy.2	+	12	4260	c.3865A>G	c.(3865-3867)AAT>GAT	p.N1289D	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1289	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						TTTGTACAGTAATGATGAGTT	0.398													G	121652965	A	G	121652965	3	3	19	1	0	0	0	0	1	0	0	0	12814	362	13	3	3911	3	PTPRZ1	7	121652965	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1963	121652965	37485698	1312	15611											
SLC13A1	6561	broad.mit.edu	37	chr7	122821124	122821124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgagccaaaatgtggcgAccacaaagagtgtgtaggca	13	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:122821124A>G	uc003vkm.2	-	2	156	c.131T>C	c.(130-132)GTC>GCC	p.V44A	SLC13A1_uc010lks.2_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	44	Helical; (Potential).					integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)	AAATGTGGCGACCACAAAGAG	0.428													G	122821124	A	G	122821124	3	3	19	1	0	0	0	0	1	0	0	0	14391	275	10	3	1712	3	SLC13A1	7	122821124	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1168159	122821124	36317539	1313	15612											
LMOD2	442721	broad.mit.edu	37	chr7	123302688	123302688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgacgagcattttgacaAgaaatatggataaacagagg	11	5	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:123302688A>G	uc003vky.2	+	2	1205	c.1048A>G	c.(1048-1050)AGA>GGA	p.R350G		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	350						cytoskeleton	actin binding|tropomyosin binding				0						CATTTTGACAAGAAATATGGA	0.478													G	123302688	A	G	123302688	3	3	19	1	0	0	0	0	1	0	0	0	8857	64	3	3	1054	3	LMOD2	7	123302688	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	481564	123302688	35835975	1314	15613											
POT1	25913	broad.mit.edu	37	chr7	124467346	124467346	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaacacatattggaggggTacaatacccagtgctagtga	10	8	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:124467346T>C	uc003vlm.2	-	17	2209	c.1608A>G	c.(1606-1608)GTA>GTG	p.V536V	POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Silent_p.V405V|POT1_uc003vln.2_RNA	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN	protection of telomeres 1 isoform 1	536					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			central_nervous_system(1)	1						ATTGGAGGGGTACAATACCCA	0.338													C	124467346	T	C	124467346	2	2	19	1	0	0	0	0	0	0	0	1	12260	1625	57	3		3	POT1	7	124467346	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1164658	124467346	34671317	1315	15614											
ZNF800	168850	broad.mit.edu	37	chr7	127014068	127014068	+	Frame_Shift_Del	DEL	T	T	-													tctgtgctgccggtgtgttcTttttttcatttgaatgattt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:127014067_127014067CT>C	uc010lla.2	-	4	2035	c.1323_1323AG>G	c.(1321-1323)aagfs	p.K441fs	ZNF800_uc003vlw.1_Frame_Shift_Del_p.K344fs|ZNF800_uc003vlx.1_Frame_Shift_Del_p.K441fs|ZNF800_uc003vly.1_Frame_Shift_Del_p.K441fs	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	Homo sapiens zinc finger protein 800 (ZNF800), mRNA.	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CCGGTGTGTTCTTTTTTTCAT	0.403													-	127014068	T	-	127014068	7	5	19	1	0	1	0	1	0	0	0	0	18166	1609	56	0	680	0	ZNF800	7	127014068	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	2546722	127014068	32124595	1316	15615											
LRRC4	64101	broad.mit.edu	37	chr7	127669233	127669233	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaccgtggtagaggtggtAtatgccggctggtaaccagt	15	8	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:127669233A>G	uc003vmk.2	-	2	1598	c.1461T>C	c.(1459-1461)TAT>TAC	p.Y487Y	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	487	Thr-rich.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		TAGAGGTGGTATATGCCGGCT	0.567													G	127669233	A	G	127669233	2	3	19	1	0	0	0	0	0	0	0	1	8997	456	16	3		3	LRRC4	7	127669233	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	655165	127669233	31469430	1317	15616											
CCDC136	64753	broad.mit.edu	37	chr7	128441250	128441250	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactttgcaggtgagctgcgTtctctacgggaggagatttc	14	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:128441250T>C	uc003vnv.1	+	4	724	c.357T>C	c.(355-357)CGT>CGC	p.R119R	CCDC136_uc003vnu.1_Silent_p.R169R|CCDC136_uc003vnw.1_Silent_p.R119R|CCDC136_uc003vnx.1_5'UTR|CCDC136_uc010llq.1_5'UTR	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	119	Glu-rich.					integral to membrane	protein binding			ovary(2)	2						GTGAGCTGCGTTCTCTACGGG	0.453													C	128441250	T	C	128441250	2	2	19	1	0	0	0	0	0	0	0	1	2770	1712	60	3		3	CCDC136	7	128441250	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	772017	128441250	30697413	1318	15617											
FLNC	2318	broad.mit.edu	37	chr7	128486164	128486164	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccaagacagacacctatgTgacagacaatggggacggca	13	10	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:128486164T>C	uc003vnz.3	+	22	4120	c.3911T>C	c.(3910-3912)GTG>GCG	p.V1304A	FLNC_uc003voa.3_Missense_Mutation_p.V1304A	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1304	Filamin 11.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GACACCTATGTGACAGACAAT	0.632													C	128486164	T	C	128486164	3	2	19	1	0	0	0	0	1	0	0	0	5935	1696	59	3	3997	3	FLNC	7	128486164	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	44914	128486164	30652499	1319	15618											
ATP6V1F	9296	broad.mit.edu	37	chr7	128502969	128502969	+	Frame_Shift_Del	DEL	G	G	-													ggctgcagggatggcggggaGgggtaagctcatcgcagtga							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:128502968_128502968AG>A	uc022all.1	+	0	112	c.10_10AG>A	c.(10-12)aggfs	p.R4fs	KCP_uc003vob.1_Non-coding_Transcript|ATP6V1F_uc003voc.2_Frame_Shift_Del_p.R4fs	NM_001198909	NP_001185838	Q16864	VATF_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F (ATP6V1F), transcript variant 2, mRNA.	4					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism			lung(1)|ovary(1)|prostate(1)	3						GATGGCGGGGAGGGGTAAGCT	0.642													-	128502969	G	-	128502969	7	5	19	1	0	1	0	1	0	0	0	0	1185	1000	35	0	13	0	ATP6V1F	7	128502969	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	16805	128502969	30635694	1320	15619											
PODXL	5420	broad.mit.edu	37	chr7	131191458	131191458	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctcggcatatcagtgagaTcaatttctcatccgaagcgc	9	11	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:131191458T>C	uc003vqw.3	-	6	1387	c.1129A>G	c.(1129-1131)ATC>GTC	p.I377V	PODXL_uc003vqx.3_Missense_Mutation_p.I345V	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	podocalyxin-like isoform 1 precursor	377	Extracellular (Potential).				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				breast(2)|pancreas(1)	3	Melanoma(18;0.162)					ATCAGTGAGATCAATTTCTCA	0.612											OREG0018320	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	131191458	T	C	131191458	3	2	19	1	0	0	0	0	1	0	0	0	12180	1435	50	3	563	3	PODXL	7	131191458	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2688489	131191458	27947205	1321	15620											
PLXNA4	91584	broad.mit.edu	37	chr7	131864640	131864640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgggctgtccggggcaatgTacaccatccccggggagtac	15	13	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:131864640T>C	uc003vra.3	-	20	3909	c.3680A>G	c.(3679-3681)TAC>TGC	p.Y1227C		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1227	IPT/TIG 4.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						CGGGGCAATGTACACCATCCC	0.642													C	131864640	T	C	131864640	3	2	19	1	0	0	0	0	1	0	0	0	12122	1638	57	3	2056	3	PLXNA4	7	131864640	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	673182	131864640	27274023	1322	15621											
PLXNA4	91584	broad.mit.edu	37	chr7	131895801	131895801	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcattcgtagccacgctgCccagactggggctgggggag	16	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:131895801C>T	uc003vra.3	-	10	2428	c.2199G>A	c.(2197-2199)GGG>GGA	p.G733G		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	733	Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						AGCCACGCTGCCCAGACTGGG	0.622													T	131895801	C	T	131895801	2	4	19	1	0	0	0	0	0	0	0	1	12122	726	26	2		2	PLXNA4	7	131895801	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	31161	131895801	27242862	1323	15622											
SLC35B4	84912	broad.mit.edu	37	chr7	133979830	133979830	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaccccggatgcacacgtAcctggaggagtggagtcaag	13	12	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:133979830A>G	uc003vrn.2	-	10	1075	c.751T>C	c.(751-753)TAC>CAC	p.Y251H	SLC35B4_uc010lmk.2_Missense_Mutation_p.Y115H|SLC35B4_uc010lml.1_Intron	NM_032826	NP_116215	Q969S0	S35B4_HUMAN	solute carrier family 35, member B4	251	Helical; (Potential).					Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			skin(1)	1						ATGCACACGTACCTGGAGGAG	0.507													G	133979830	A	G	133979830	3	3	19	1	0	0	0	0	1	0	0	0	14578	405	14	3	248	3	SLC35B4	7	133979830	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2084029	133979830	25158833	1324	15623											
NUP205	23165	broad.mit.edu	37	chr7	135333276	135333276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcttgtcagacgtatccGtggcctcttgaggatatcaa	11	10	4	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:135333276G>A	uc003vsw.2	+	43	6042	c.6011G>A	c.(6010-6012)CGT>CAT	p.R2004H	NUP205_uc003vsx.2_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	2004					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						AGACGTATCCGTGGCCTCTTG	0.393													A	135333276	G	A	135333276	3	1	19	1	0	0	0	0	1	0	0	0	10759	1145	40	1	6181	1	NUP205	7	135333276	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1353446	135333276	23805387	1325	15624											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138394461	138394461	+	Frame_Shift_Del	DEL	A	A	-													gcaaatacggcaaaaataatAaaaaccccgacgattcctcc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:138394460_138394460TA>T	uc003vuf.3	-	19	2576	c.2338_2338TA>A	c.(2338-2340)attfs	p.I780fs	ATP6V0A4_uc003vug.3_Frame_Shift_Del_p.I780fs|ATP6V0A4_uc003vuh.3_Frame_Shift_Del_p.I780fs	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	780					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCAAAAATAATAAAAACCCCG	0.527													-	138394461	A	-	138394461	7	5	19	1	0	1	0	1	0	0	0	0	1170	359	13	0	193	0	ATP6V0A4	7	138394461	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	3061185	138394461	20744202	1326	15625											
KIAA1549	57670	broad.mit.edu	37	chr7	138579128	138579128	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccacagtgtcaggctgaAagtctagcttgtctgtgcgg	14	9	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:138579128A>C	uc011kql.1	-	10	4041	c.3992T>G	c.(3991-3993)TTT>TGT	p.F1331C	KIAA1549_uc011kqi.1_Missense_Mutation_p.F115C|KIAA1549_uc003vuk.3_Missense_Mutation_p.F1281C|KIAA1549_uc011kqj.1_Missense_Mutation_p.F1331C|KIAA1549_uc011kqk.1_Missense_Mutation_p.F115C	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1331						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						GTCAGGCTGAAAGTCTAGCTT	0.522			O	BRAF	pilocytic astrocytoma								C	138579128	A	C	138579128	3	2	19	1	0	0	0	0	1	0	0	0	8244	14	1	5	1904	5	KIAA1549	7	138579128	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	184667	138579128	20559535	1327	15626											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138749712	138749712	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagagagactccaggtatgAagagtcgacgtttgaatttt	11	5	0	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:138749712A>G	uc003vun.2	-	8	2294	c.1906T>C	c.(1906-1908)TCA>CCA	p.S636P	ZC3HAV1_uc003vuo.2_Missense_Mutation_p.S97P|ZC3HAV1_uc003vup.2_Missense_Mutation_p.S636P	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	zinc finger antiviral protein isoform 1	636	WWE.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1						TCCAGGTATGAAGAGTCGACG	0.423													G	138749712	A	G	138749712	3	3	19	1	0	0	0	0	1	0	0	0	17572	246	9	3	830	3	ZC3HAV1	7	138749712	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	170584	138749712	20388951	1328	15627											
HIPK2	28996	broad.mit.edu	37	chr7	139281496	139281496	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttctgttcctcctcctcgTccgtgtcactgctgatggtg	10	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:139281496T>C	uc003vvf.3	-	12	2858	c.2684A>G	c.(2683-2685)GAC>GGC	p.D895G	HIPK2_uc003vvd.3_Missense_Mutation_p.D868G	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	895	Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity).|Interaction with UBE2I (By similarity).|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).			SDTD->ADTA: Loss of SUMO interaction, and impaired nuclear and PML-nuclear bodies localization.|DTDEEEE->NFNQQQQ: Loss of SUMO and CBX4 interaction, and impaired nuclear and PML-nuclear bodies localization.	apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					CTCCTCCTCGTCCGTGTCACT	0.617													C	139281496	T	C	139281496	3	2	19	1	0	0	0	0	1	0	0	0	7117	1667	58	3	928	3	HIPK2	7	139281496	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	531784	139281496	19857167	1329	15628											
HIPK2	28996	broad.mit.edu	37	chr7	139281517	139281517	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgtcactgctgatggtgAtgacgctgaccgtggggctg	16	10	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:139281517A>T	uc003vvf.3	-	12	2837	c.2663T>A	c.(2662-2664)ATC>AAC	p.I888N	HIPK2_uc003vvd.3_Missense_Mutation_p.I861N	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	888	Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity).|Interaction with UBE2I (By similarity).|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).			VSVI->KSAK: Loss of SUMO interaction, and impaired nuclear and PML-nuclear bodies localization.|VSVITISS->KFMHFHRM: Loss of SUMO and CBX4 interaction, and impaired nuclear and PML-nuclear bodies localization.	apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					GCTGATGGTGATGACGCTGAC	0.642													T	139281517	A	T	139281517	3	4	19	1	0	0	0	0	1	0	0	0	7117	333	12	5	949	5	HIPK2	7	139281517	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	21	139281517	19857146	1330	15629											
ADCK2	90956	broad.mit.edu	37	chr7	140389471	140389471	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacgtggaggggttcaaaacCgagatggccatgctggtgac	16	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:140389471C>A	uc003vvy.1	+	6	1810	c.1632C>A	c.(1630-1632)ACC>ACA	p.T544T	ADCK2_uc003vvz.2_Silent_p.T544T	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	544	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity				0	Melanoma(164;0.00956)					GGTTCAAAACCGAGATGGCCA	0.607													A	140389471	C	A	140389471	2	1	19	1	0	0	0	0	0	0	0	1	289	639	23	5		5	ADCK2	7	140389471	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1107954	140389471	18749192	1331	15630											
BRAF	673	broad.mit.edu	37	chr7	140477841	140477841	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaactgctgaggtgtaggTgctgtcacattcaacatttt	10	7	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:140477841T>C	uc003vwc.3	-	12	1528	c.1467A>G	c.(1465-1467)GCA>GCG	p.A489A		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	489	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.L485_P490>Y(2)|p.N486_P490del(1)	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	GAGGTGTAGGTGCTGTCACAT	0.333		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				C	140477841	T	C	140477841	2	2	19	1	0	0	0	0	0	0	0	1	1496	1683	59	3		3	BRAF	7	140477841	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	88370	140477841	18660822	1332	15631											
WEE2	494551	broad.mit.edu	37	chr7	141424039	141424039	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacccaaagtggaagaaggAgatagtcgcttcctggctaa	11	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:141424039A>G	uc003vwn.2	+	8	1591	c.1185A>G	c.(1183-1185)GGA>GGG	p.G395G	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	395	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)					TGGAAGAAGGAGATAGTCGCT	0.368													G	141424039	A	G	141424039	2	3	19	1	0	0	0	0	0	0	0	1	17342	291	11	3		3	WEE2	7	141424039	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	946198	141424039	17714624	1333	15632											
TAS2R38	5726	broad.mit.edu	37	chr7	141672607	141672607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgcctgagatcaggatggCtgcatgcccagagggacaag	14	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:141672607C>T	uc003vwx.1	-	1	967	c.883G>A	c.(883-885)GCC>ACC	p.A295T		NM_176817	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	295	Helical; Name=7; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|skin(1)	2	Melanoma(164;0.0171)					ATCAGGATGGCTGCATGCCCA	0.542													T	141672607	C	T	141672607	3	4	19	1	0	0	0	0	1	0	0	0	15572	797	28	2	122	2	TAS2R38	7	141672607	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	248568	141672607	17466056	1334	15633											
MGAM	8972	broad.mit.edu	37	chr7	141805634	141805634	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtattaagcatcgatgtgacTgacagaaacatcagcctaca	8	9	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:141805634T>C	uc003vwy.2	+	48	5571	c.5517T>C	c.(5515-5517)ACT>ACC	p.T1839T		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1839	Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCGATGTGACTGACAGAAACA	0.368													C	141805634	T	C	141805634	2	2	19	1	0	0	0	0	0	0	0	1	9541	1567	55	3		3	MGAM	7	141805634	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	133027	141805634	17333029	1335	15634											
TRPV6	55503	broad.mit.edu	37	chr7	142575704	142575704	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctggtgcaccttgcaatcCtcatacttgagcaacttgtt	7	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:142575704C>A	uc003wbx.1	-	2	420	c.204G>T	c.(202-204)GAG>GAT	p.E68D	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_Translation_Start_Site	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	68	ANK 1.|Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					CCTTGCAATCCTCATACTTGA	0.527													A	142575704	C	A	142575704	3	1	19	1	0	0	0	0	1	0	0	0	16597	680	24	5	2029	5	TRPV6	7	142575704	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	770070	142575704	16562959	1336	15635											
EPHA1	2041	broad.mit.edu	37	chr7	143091397	143091397	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaagatccgatgggcaaTggcttcaggggctgtccaac	15	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:143091397T>C	uc003wcz.2	-	15	2479	c.2392A>G	c.(2392-2394)ATT>GTT	p.I798V		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	798	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CGATGGGCAATGGCTTCAGGG	0.547													C	143091397	T	C	143091397	3	2	19	1	0	0	0	0	1	0	0	0	5165	1464	51	3	554	3	EPHA1	7	143091397	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	515693	143091397	16047266	1337	15636											
ARHGEF5	7984	broad.mit.edu	37	chr7	144077125	144077125	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagtcaagactgccaaactAcagctggtggaacagcaagc	11	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:144077125A>G	uc003wel.2	+	15	4888	c.4770A>G	c.(4768-4770)CTA>CTG	p.L1590L	ARHGEF5_uc003wem.2_Silent_p.L391L	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	rho guanine nucleotide exchange factor 5	1590					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			skin(2)	2	Melanoma(164;0.14)					CTGCCAAACTACAGCTGGTGG	0.542													G	144077125	A	G	144077125	2	3	19	1	0	0	0	0	0	0	0	1	909	378	14	3		3	ARHGEF5	7	144077125	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	985728	144077125	15061538	1338	15637											
CNTNAP2	26047	broad.mit.edu	37	chr7	146829377	146829377	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtggaaccctatacggtgcCtgtctttttcaacgctacaa	8	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:146829377C>A	uc003weu.1	+	8	1640	c.1124C>A	c.(1123-1125)CCT>CAT	p.P375H		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	375	Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TATACGGTGCCTGTCTTTTTC	0.453										HNSCC(39;0.1)			A	146829377	C	A	146829377	3	1	19	1	0	0	0	0	1	0	0	0	3647	681	24	5	1154	5	CNTNAP2	7	146829377	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2752252	146829377	12309286	1339	15638											
CNTNAP2	26047	broad.mit.edu	37	chr7	148112646	148112646	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcgcggacgccgccatcAtgaacaacgaccccaacttc	9	16	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:148112646A>G	uc003weu.1	+	24	4450	c.3934A>G	c.(3934-3936)ATG>GTG	p.M1312V	CNTNAP2_uc003wev.1_Missense_Mutation_p.M89V	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	1312	Cytoplasmic (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGCCGCCATCATGAACAACGA	0.552										HNSCC(39;0.1)			G	148112646	A	G	148112646	3	3	19	1	0	0	0	0	1	0	0	0	3647	217	8	3	4028	3	CNTNAP2	7	148112646	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1283269	148112646	11026017	1340	15639											
CUL1	8454	broad.mit.edu	37	chr7	148489850	148489850	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatggctatcctgcttcaGtacaacacggaagatgccta	9	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:148489850G>A	uc010lpg.2	+	17	2365	c.1839G>A	c.(1837-1839)CAG>CAA	p.Q613Q	CUL1_uc003wey.2_Silent_p.Q613Q|CUL1_uc003wez.2_Silent_p.Q503Q|CUL1_uc003wfa.2_Silent_p.Q274Q	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	613					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TCCTGCTTCAGTACAACACGG	0.453													A	148489850	G	A	148489850	2	1	19	1	0	0	0	0	0	0	0	1	4054	1020	36	4		4	CUL1	7	148489850	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	377204	148489850	10648813	1341	15640											
ZNF786	136051	broad.mit.edu	37	chr7	148768111	148768111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctccccgctgtgcacgcGcaagtgctccgtgagcttgg	12	15	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:148768111G>A	uc003wfh.2	-	4	1890	c.1753C>T	c.(1753-1755)CGC>TGC	p.R585C	ZNF786_uc011kuk.1_Missense_Mutation_p.R548C|ZNF786_uc003wfi.2_Missense_Mutation_p.R499C	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	585	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTGTGCACGCGCAAGTGCTCC	0.642													A	148768111	G	A	148768111	3	1	19	1	0	0	0	0	1	0	0	0	18155	1087	38	1	599	1	ZNF786	7	148768111	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	278261	148768111	10370552	1342	15641											
ZNF398	57541	broad.mit.edu	37	chr7	148876131	148876131	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcggacctcagcagcacctcCcaggaccatgccagcgagac	11	17	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:148876131C>A	uc003wfl.2	+	6	1442	c.1167C>A	c.(1165-1167)TCC>TCA	p.S389S	ZNF398_uc011kul.1_Silent_p.S218S|ZNF398_uc011kum.1_Silent_p.S394S	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	zinc finger 398 isoform a	389	C2H2-type 2; degenerate.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GCAGCACCTCCCAGGACCATG	0.572													A	148876131	C	A	148876131	2	1	19	1	0	0	0	0	0	0	0	1	17882	610	22	5		5	ZNF398	7	148876131	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	108020	148876131	10262532	1343	15642											
ZNF282	8427	broad.mit.edu	37	chr7	148921393	148921393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgagaagagcttcaactGccactcgggcctcatccgcc	11	15	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:148921393G>A	uc003wfm.2	+	8	1775	c.1670G>A	c.(1669-1671)TGC>TAC	p.C557Y	ZNF282_uc011kun.1_3'UTR|ZNF282_uc003wfo.2_Missense_Mutation_p.A234T	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	557	C2H2-type 2.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		AGCTTCAACTGCCACTCGGGC	0.642													A	148921393	G	A	148921393	3	1	19	1	0	0	0	0	1	0	0	0	17816	1319	46	2	1700	2	ZNF282	7	148921393	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	45262	148921393	10217270	1344	15643											
SSPO	23145	broad.mit.edu	37	chr7	149523543	149523544	+	Frame_Shift_Ins	INS	-	-	C													gtgtgctccccacagagtgcINSccccctggccaggtgcttag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:149523542_149523543G>GC	uc010lpk.3	+	100	14429_14430	c.14429_14430G>GC	c.(14428-14430)tgcfs	p.C4810fs	SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4818	TSP type-1 24.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCACAGAGTGCCCCCCTGGCC	0.663													C	149523544	-	C	149523543	7	5	19	1	0	1	1	0	0	0	0	0	15188	747	26	0	14851	0	SSPO	7	149523543	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	602150	149523543	9615120	1345	15644											
ZNF862	643641	broad.mit.edu	37	chr7	149545162	149545162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagactctcaaataccacGcgaagagcaaggcccacatg	10	12	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:149545162G>A	uc010lpn.2	+	4	772	c.580G>A	c.(580-582)GCG>ACG	p.A194T	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	194	TTF-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						CAAATACCACGCGAAGAGCAA	0.547													A	149545162	G	A	149545162	3	1	19	1	0	0	0	0	1	0	0	0	18192	1087	38	1	594	1	ZNF862	7	149545162	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	21619	149545162	9593501	1346	15645											
ZNF862	643641	broad.mit.edu	37	chr7	149559482	149559482	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcgtggccgtcacggagtAcgacccccagcccgccatcc	12	19	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:149559482A>G	uc010lpn.2	+	7	3425	c.3233A>G	c.(3232-3234)TAC>TGC	p.Y1078C	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	1078					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						GTCACGGAGTACGACCCCCAG	0.622													G	149559482	A	G	149559482	3	3	19	1	0	0	0	0	1	0	0	0	18192	391	14	3	3259	3	ZNF862	7	149559482	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	14320	149559482	9579181	1347	15646											
SMARCD3	6604	broad.mit.edu	37	chr7	150936822	150936822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtttatggactcaatcGtctcatggatctgcaggtag	12	8	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:150936822G>A	uc003wjs.2	-	11	1285	c.1184C>T	c.(1183-1185)ACG>ATG	p.T395M	SMARCD3_uc003wjt.2_Missense_Mutation_p.T382M|SMARCD3_uc003wju.2_Missense_Mutation_p.T382M	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin	395					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGACTCAATCGTCTCATGGAT	0.547													A	150936822	G	A	150936822	3	1	19	1	0	0	0	0	1	0	0	0	14779	1145	40	1	279	1	SMARCD3	7	150936822	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1377340	150936822	8201841	1348	15647											
NUB1	51667	broad.mit.edu	37	chr7	151074269	151074269	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attattattgcagagtacctAtcctatgtagaaaataggaa	7	5	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:151074269A>G	uc003wjx.2	+	15	1883	c.1878A>G	c.(1876-1878)CTA>CTG	p.L626L	NUB1_uc003wjw.2_Silent_p.L588L|NUB1_uc010lqc.2_RNA	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	602					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CAGAGTACCTATCCTATGTAG	0.358													G	151074269	A	G	151074269	2	3	19	1	0	0	0	0	0	0	0	1	10714	436	16	3		3	NUB1	7	151074269	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	137447	151074269	8064394	1349	15648											
MLL3	58508	broad.mit.edu	37	chr7	151836879	151836879	+	Splice_Site	DEL	A	A	-													agcatacaggcccagcccctAaaaaaaagtgtgtacatact							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:151836878_151836878TA>T	uc003wla.3	-	56	14563	c.14344_splice	c.e56-1	p.G4782_splice	MLL3_uc003wkz.3_Splice_Site_p.G3896_splice|MLL3_uc003wkx.3_Splice_Site_p.G940_splice|MLL3_uc003wky.3_Splice_Site_p.G2342_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4782	SET.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCCCAGCCCCTAAAAAAAAGT	0.413			N		medulloblastoma								-	151836879	A	-	151836879	8	5	19	1	0	1	0	1	0	0	1	0	9622	377	13	0		0	MLL3	7	151836879	Splice_Site	DEL	A	TCGA-BR-4361-01A-01D-1158-08	762610	151836879	7301784	1350	15649											
XRCC2	7516	broad.mit.edu	37	chr7	152345769	152345769	+	Frame_Shift_Del	DEL	T	T	-													tctccaataataaaaaaatgTttttttaaactgttactttt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:152345769delT	uc003wld.2	-	3	887	c.801delA	c.(799-801)AAAfs	p.K267fs		NM_005431	NP_005422	O43543	XRCC2_HUMAN	X-ray repair cross complementing protein 2	267					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			breast(1)|liver(1)	2		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TAAAAAAATGTTTTTTTAAAC	0.299								Homologous_recombination					-	152345769	T	-	152345769	7	5	19	1	0	1	0	1	0	0	0	0	17450	1722	60	0	45	0	XRCC2	7	152345769	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	508890	152345769	6792894	1351	15650											
XRCC2	7516	broad.mit.edu	37	chr7	152345981	152345981	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaggctttctgcattatagTttgtgtcgttgcaaaaagaa	10	6	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:152345981T>C	uc003wld.2	-	3	675	c.589A>G	c.(589-591)ACT>GCT	p.T197A		NM_005431	NP_005422	O43543	XRCC2_HUMAN	X-ray repair cross complementing protein 2	197					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			breast(1)|liver(1)	2		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TGCATTATAGTTTGTGTCGTT	0.438								Homologous_recombination					C	152345981	T	C	152345981	3	2	19	1	0	0	0	0	1	0	0	0	17450	1725	60	3	257	3	XRCC2	7	152345981	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	212	152345981	6792682	1352	15651											
PAXIP1	22976	broad.mit.edu	37	chr7	154738278	154738278	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcattttcacaggatattAaaattatttccgacaaactc	5	8	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:154738278A>G	uc003wlp.2	-	19	3120	c.3077T>C	c.(3076-3078)TTA>TCA	p.L1026S	LOC100132707_uc011kvr.1_Intron|LOC100132707_uc003wlo.2_Intron|PAXIP1_uc003wlq.1_Missense_Mutation_p.L992S|PAXIP1_uc011kvs.1_Missense_Mutation_p.L990S	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	PAX interacting protein 1	1026	Interaction with TP53BP1.|BRCT 6.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ACAGGATATTAAAATTATTTC	0.448													G	154738278	A	G	154738278	3	3	19	1	0	0	0	0	1	0	0	0	11487	372	13	3	144	3	PAXIP1	7	154738278	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2392297	154738278	4400385	1353	15652											
RNF32	140545	broad.mit.edu	37	chr7	156437236	156437236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggcagtcaatgcagttgCtttacaagatcacattttac	7	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:156437236C>T	uc003wmo.2	+	3	241	c.59C>T	c.(58-60)GCT>GTT	p.A20V	RNF32_uc010lql.1_RNA|RNF32_uc010lqm.2_Missense_Mutation_p.A20V|RNF32_uc003wmp.2_Missense_Mutation_p.A20V|RNF32_uc003wmq.2_Missense_Mutation_p.A20V|RNF32_uc003wmr.2_Missense_Mutation_p.A20V|RNF32_uc003wms.2_Missense_Mutation_p.A20V|RNF32_uc003wmu.2_RNA|RNF32_uc003wmt.2_Missense_Mutation_p.A20V	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	ring finger protein 32	20						aggresome|endosome	protein binding|zinc ion binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AATGCAGTTGCTTTACAAGAT	0.308													T	156437236	C	T	156437236	3	4	19	1	0	0	0	0	1	0	0	0	13488	797	28	2	65	2	RNF32	7	156437236	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1698958	156437236	2701427	1354	15653											
NOM1	64434	broad.mit.edu	37	chr7	156742867	156742867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctcccaggaagccgcggCcgtcccgggtcaaggccaag	14	17	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:156742867C>T	uc003wmy.2	+	1	451	c.436C>T	c.(436-438)CCG>TCG	p.P146S		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	146	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GAAGCCGCGGCCGTCCCGGGT	0.736													T	156742867	C	T	156742867	3	4	19	1	0	0	0	0	1	0	0	0	10530	739	26	2	438	2	NOM1	7	156742867	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	305631	156742867	2395796	1355	15654											
WDR60	55112	broad.mit.edu	37	chr7	158726880	158726880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactgaatgttaaatttctGccttcagatcctaatcactt	4	10	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:158726880G>A	uc003woe.3	+	22	2765	c.2607G>A	c.(2605-2607)CTG>CTA	p.L869L	WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Silent_p.L501L	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	869										ovary(2)|breast(1)|central_nervous_system(1)	4	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TTAAATTTCTGCCTTCAGATC	0.328													A	158726880	G	A	158726880	2	1	19	1	0	0	0	0	0	0	0	1	17308	1306	46	2		2	WDR60	7	158726880	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1984013	158726880	411783	1356	15655											
ERICH1	157697	broad.mit.edu	37	chr8	623717	623717	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgggtcttcctcgctggtgTccacaccatcctcctcacaa	7	17	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:623717T>C	uc003wph.2	-	4	700	c.635A>G	c.(634-636)GAC>GGC	p.D212G	ERICH1_uc011kwh.1_Missense_Mutation_p.D212G|ERICH1_uc003wpe.1_Missense_Mutation_p.D118G|ERICH1_uc003wpi.2_Missense_Mutation_p.D24G	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	212	Glu-rich.									large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CTCGCTGGTGTCCACACCATC	0.597													C	623717	T	C	623717	3	2	19	1	0	0	0	0	1	0	0	0	5230	1667	58	3	708	3	ERICH1	8	623717	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08		623717	145740305	1357	15656											
DLGAP2	9228	broad.mit.edu	37	chr8	1497659	1497659	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagacctccaagagcaacaAcgacgtcaagtgctcggcct	9	14	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:1497659A>G	uc003wpl.2	+	2	897	c.800A>G	c.(799-801)AAC>AGC	p.N267S	DLGAP2_uc003wpm.2_Missense_Mutation_p.N267S	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	346					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AAGAGCAACAACGACGTCAAG	0.667													G	1497659	A	G	1497659	3	3	19	1	0	0	0	0	1	0	0	0	4560	43	2	3	802	3	DLGAP2	8	1497659	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	873942	1497659	144866363	1358	15657											
DLGAP2	9228	broad.mit.edu	37	chr8	1497743	1497743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctcctggtctacgctgaCggtcagccaggccaaggagg	14	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:1497743C>T	uc003wpl.2	+	2	981	c.884C>T	c.(883-885)ACG>ATG	p.T295M	DLGAP2_uc003wpm.2_Missense_Mutation_p.T295M	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	374					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TCTACGCTGACGGTCAGCCAG	0.652													T	1497743	C	T	1497743	3	4	19	1	0	0	0	0	1	0	0	0	4560	536	19	1	886	1	DLGAP2	8	1497743	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	84	1497743	144866279	1359	15658											
DLGAP2	9228	broad.mit.edu	37	chr8	1649450	1649450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacctgcccgacagacaaCgccaggaagcccggaggcgc	14	15	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:1649450C>T	uc003wpl.2	+	12	2903	c.2806C>T	c.(2806-2808)CGC>TGC	p.R936C	DLGAP2_uc003wpm.2_Missense_Mutation_p.R922C	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	1015					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGACAGACAACGCCAGGAAGC	0.602													T	1649450	C	T	1649450	3	4	19	1	0	0	0	0	1	0	0	0	4560	536	19	1	2848	1	DLGAP2	8	1649450	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	151707	1649450	144714572	1360	15659											
MYOM2	9172	broad.mit.edu	37	chr8	2088683	2088683	+	Frame_Shift_Del	DEL	G	G	-													ccagtgagcatatgagaatcGgggggagtgaagagatggct					rs34620424	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:2088682_2088682CG>C	uc003wpx.4	+	32	3975	c.3837_3837CG>C	c.(3835-3837)atcfs	p.I1279fs	MYOM2_uc011kwi.2_Frame_Shift_Del_p.I704fs	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1279					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATATGAGAATCGGGGGGAGTG	0.448													-	2088683	G	-	2088683	7	5	19	1	0	1	0	1	0	0	0	0	10092	1116	39	0	3964	0	MYOM2	8	2088683	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	439233	2088683	144275339	1361	15660											
MCPH1	79648	broad.mit.edu	37	chr8	6302632	6302632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatgtctgatttttcctgCgttggcaaaaaaaccagaac	8	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:6302632C>T	uc003wqi.2	+	8	1457	c.1389C>T	c.(1387-1389)TGC>TGT	p.C463C	MCPH1_uc003wqh.2_Silent_p.C463C|MCPH1_uc011kwl.1_Silent_p.C415C	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	463						microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		ATTTTTCCTGCGTTGGCAAAA	0.443													T	6302632	C	T	6302632	2	4	19	1	0	0	0	0	0	0	0	1	9398	776	27	1		1	MCPH1	8	6302632	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	4213949	6302632	140061390	1362	15661											
CLDN23	137075	broad.mit.edu	37	chr8	8560311	8560311	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctcatcccggtgtcctggTacaaccacttcttgggggac	11	14	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:8560311T>C	uc003wsi.2	+	1	646	c.403T>C	c.(403-405)TAC>CAC	p.Y135H		NM_194284	NP_919260	Q96B33	CLD23_HUMAN	claudin 23	135	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		GGTGTCCTGGTACAACCACTT	0.697													C	8560311	T	C	8560311	3	2	19	1	0	0	0	0	1	0	0	0	3484	1638	57	3	405	3	CLDN23	8	8560311	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2257679	8560311	137803711	1363	15662											
SOX7	83595	broad.mit.edu	37	chr8	10583646	10583646	+	Frame_Shift_Del	DEL	G	G	-													gccaagggccagggagcccaGggggtggctacagtggagag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:10583645_10583645AG>A	uc011kwz.2	-	5	959	c.926_926CT>T	c.(925-927)ctgfs	p.L309fs	SOX7_uc003wtf.3_Frame_Shift_Del_p.L257fs	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	257	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CAGGGAGCCCAGGGGGTGGCT	0.687													-	10583646	G	-	10583646	7	5	19	1	0	1	0	1	0	0	0	0	14956	991	35	0	401	0	SOX7	8	10583646	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	2023335	10583646	135780376	1364	15663											
XKR6	286046	broad.mit.edu	37	chr8	10782233	10782233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaaggtctccaggaggCgcagcatgttgacgtctgca	14	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:10782233C>T	uc003wtk.1	-	2	899	c.872G>A	c.(871-873)CGC>CAC	p.R291H		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	291						integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CTCCAGGAGGCGCAGCATGTT	0.567													T	10782233	C	T	10782233	3	4	19	1	0	0	0	0	1	0	0	0	17432	768	27	1	1061	1	XKR6	8	10782233	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	198587	10782233	135581789	1365	15664											
NEIL2	252969	broad.mit.edu	37	chr8	11637208	11637208	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaaaaagaagtgcagaaGgaaggggctgcggacccaaa	13	9	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:11637208G>A	uc003wug.2	+	3	915	c.240G>A	c.(238-240)AAG>AAA	p.K80K	NEIL2_uc003wue.2_Silent_p.K80K|NEIL2_uc003wuf.2_Silent_p.K19K|NEIL2_uc011kxd.1_Intron	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	nei like 2 isoform a	80					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding				0	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		AAGTGCAGAAGGAAGGGGCTG	0.567								BER_DNA_glycosylases					A	11637208	G	A	11637208	2	1	19	1	0	0	0	0	0	0	0	1	10319	991	35	4		4	NEIL2	8	11637208	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	854975	11637208	134726814	1366	15665											
NEIL2	252969	broad.mit.edu	37	chr8	11637331	11637331	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgagtatttggagagagaCgcccctgcaggagatgctgg	15	8	1	4	rs143923741		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:11637331C>T	uc003wug.2	+	3	1038	c.363C>T	c.(361-363)GAC>GAT	p.D121D	NEIL2_uc003wue.2_Silent_p.D121D|NEIL2_uc003wuf.2_Silent_p.D60D|NEIL2_uc011kxd.1_Intron	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	nei like 2 isoform a	121					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding				0	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TGGAGAGAGACGCCCCTGCAG	0.577								BER_DNA_glycosylases					T	11637331	C	T	11637331	2	4	19	1	0	0	0	0	0	0	0	1	10319	535	19	1		1	NEIL2	8	11637331	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	123	11637331	134726691	1367	15666											
USP17L2	377630	broad.mit.edu	37	chr8	11995417	11995417	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aagtttgttgcctgtgacatCggagaatctcttcaagacaa	9	8	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:11995417C>A	uc003wvc.1	-	1	853	c.853G>T	c.(853-855)GAT>TAT	p.D285Y	FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	deubiquitinating enzyme 3	285					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)	3						CCTGTGACATCGGAGAATCTC	0.488													A	11995417	C	A	11995417	3	1	19	1	0	0	0	0	1	0	0	0	17045	884	31	5	743	5	USP17L2	8	11995417	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	358086	11995417	134368605	1368	15667											
C8orf79	57604	broad.mit.edu	37	chr8	12878636	12878636	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caatggaacaaaagaaccgtCactttgagaagcaagacgtg	10	8	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:12878636C>T	uc010lsq.2	+	5	940	c.448C>T	c.(448-450)CAC>TAC	p.H150Y	C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Missense_Mutation_p.H63Y|C8orf79_uc010lsr.2_Missense_Mutation_p.H24Y	NM_020844	NP_065895	Q9P272	K1456_HUMAN	hypothetical protein LOC57604 isoform 1	150							methyltransferase activity				0						AAAGAACCGTCACTTTGAGAA	0.478													T	12878636	C	T	12878636	3	4	19	1	0	0	0	0	1	0	0	0	2438	826	29	4	458	4	C8orf79	8	12878636	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	883219	12878636	133485386	1369	15668											
DLC1	10395	broad.mit.edu	37	chr8	12957997	12957997	+	Frame_Shift_Del	DEL	G	G	-													gctgatgacggagttagtccGgggggtggcagcatcctcgc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:12957996_12957996CG>C	uc003wwm.2	-	8	2294	c.1850_1850CG>G	c.(1849-1851)cggfs	p.R617fs	DLC1_uc003wwk.1_Frame_Shift_Del_p.R180fs|DLC1_uc003wwl.1_Frame_Shift_Del_p.R214fs|DLC1_uc011kxx.1_Frame_Shift_Del_p.R106fs	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	617					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGAGTTAGTCCGGGGGGTGGC	0.652													-	12957997	G	-	12957997	7	5	19	1	0	1	0	1	0	0	0	0	4550	1115	39	0	2777	0	DLC1	8	12957997	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	79361	12957997	133406025	1370	15669											
TUSC3	7991	broad.mit.edu	37	chr8	15508249	15508249	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tactggcgaactcctggcgcTattcatctgctttttgtaac	8	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:15508249T>G	uc003wwt.2	+	3	562	c.352T>G	c.(352-354)TAT>GAT	p.Y118D	TUSC3_uc003wwr.2_Missense_Mutation_p.Y118D|TUSC3_uc003wws.2_Missense_Mutation_p.Y118D|TUSC3_uc003wwu.2_Missense_Mutation_p.Y118D|TUSC3_uc003wwv.2_Missense_Mutation_p.Y118D|TUSC3_uc003www.2_Missense_Mutation_p.Y118D|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.Y118D	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	118					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		CTCCTGGCGCTATTCATCTGC	0.393													G	15508249	T	G	15508249	3	3	19	1	0	0	0	0	1	0	0	0	16775	1522	53	5	362	5	TUSC3	8	15508249	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2550252	15508249	130855773	1371	15670											
ZDHHC2	51201	broad.mit.edu	37	chr8	17053124	17053124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccatctataccaggaccAtgtctggaggtaaatgttga	9	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:17053124A>G	uc003wxe.2	+	4	761	c.364A>G	c.(364-366)ATG>GTG	p.M122V		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	122						integral to membrane	acyltransferase activity|zinc ion binding				0				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		TACCAGGACCATGTCTGGAGG	0.413													G	17053124	A	G	17053124	3	3	19	1	0	0	0	0	1	0	0	0	17607	217	8	3	378	3	ZDHHC2	8	17053124	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1544875	17053124	129310898	1372	15671											
MTUS1	57509	broad.mit.edu	37	chr8	17601244	17601244	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggagcagctatttgcctcAaaccgcaggagtcaggcttg	12	10	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:17601244A>G	uc003wxv.2	-	3	2630	c.2156T>C	c.(2155-2157)TTG>TCG	p.L719S	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.L719S|MTUS1_uc010lsz.2_Missense_Mutation_p.L719S	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	719						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		TATTTGCCTCAAACCGCAGGA	0.453													G	17601244	A	G	17601244	3	3	19	1	0	0	0	0	1	0	0	0	9965	131	5	3	2027	3	MTUS1	8	17601244	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	548120	17601244	128762778	1373	15672											
PCM1	5108	broad.mit.edu	37	chr8	17810504	17810504	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agctgttccagacaatagaaGacaggcagaaagtctttcat	9	8	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:17810504G>A	uc003wyi.3	+	9	1519	c.1097G>A	c.(1096-1098)AGA>AAA	p.R366K	PCM1_uc011kyh.1_Missense_Mutation_p.R366K|PCM1_uc003wyj.3_Missense_Mutation_p.R366K|PCM1_uc003wyg.2_Missense_Mutation_p.R366K|PCM1_uc003wyh.2_Missense_Mutation_p.R405K|PCM1_uc010lta.1_Missense_Mutation_p.R405K	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	366					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)		GACAATAGAAGACAGGCAGAA	0.353			T	RET|JAK2	papillary thyroid|CML|MPD								A	17810504	G	A	17810504	3	1	19	1	0	0	0	0	1	0	0	0	11584	942	33	4	1123	4	PCM1	8	17810504	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	209260	17810504	128553518	1374	15673											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19363333	19363333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacgcaagcagcccccggcGaaccatcatcattcaggaat	8	16	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:19363333G>A	uc011kyn.1	-	4	1077	c.13C>T	c.(13-15)CGC>TGC	p.R5C	CSGALNACT1_uc011kyo.1_Missense_Mutation_p.R5C|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.R4C|CSGALNACT1_uc003wzh.2_RNA	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate	5	Cytoplasmic (Potential).				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)		AGCCCCCGGCGAACCATCATC	0.602													A	19363333	G	A	19363333	3	1	19	1	0	0	0	0	1	0	0	0	3938	1058	37	1	1613	1	CSGALNACT1	8	19363333	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1552829	19363333	127000689	1375	15674											
SLC18A1	6570	broad.mit.edu	37	chr8	20038350	20038350	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacaaagacccacaaacgtAcccaccacagtaaacagcat	5	15	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:20038350A>G	uc011kyq.1	-	3	595	c.124_splice	c.e3+1	p.V42_splice	SLC18A1_uc003wzm.2_Splice_Site_p.V42_splice|SLC18A1_uc011kyr.1_Splice_Site_p.V42_splice|SLC18A1_uc003wzn.2_Splice_Site_p.V42_splice|SLC18A1_uc010ltf.2_Splice_Site|SLC18A1_uc003wzo.2_Splice_Site_p.V42_splice	NM_001135691	NP_001129163	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine),						neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			ovary(2)	2				Colorectal(74;0.0747)		CCACAAACGTACCCACCACAG	0.547													G	20038350	A	G	20038350	5	3	19	1	0	0	0	0	0	0	1	0	14425	405	14	3	1511	3	SLC18A1	8	20038350	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	675017	20038350	126325672	1376	15675											
LZTS1	11178	broad.mit.edu	37	chr8	20110740	20110740	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcccagcttgctacctccGtcggagaaggacagagcctt	12	13	0	2	rs146205759		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:20110740G>A	uc003wzr.2	-	2	813	c.702C>T	c.(700-702)GAC>GAT	p.D234D	LZTS1_uc010ltg.1_Silent_p.D234D	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	234					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGCTACCTCCGTCGGAGAAGG	0.627													A	20110740	G	A	20110740	2	1	19	1	0	0	0	0	0	0	0	1	9138	1136	40	1		1	LZTS1	8	20110740	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	72390	20110740	126253282	1377	15676											
FGF17	8822	broad.mit.edu	37	chr8	21904139	21904139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagaggggcaagctcatcGggaaggtgaggctgggagac	18	7	1	3	rs142215324		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:21904139G>A	uc003xag.2	+	4	364	c.352G>A	c.(352-354)GGG>AGG	p.G118R	FGF17_uc003xah.2_Missense_Mutation_p.G107R|FGF17_uc003xai.2_Missense_Mutation_p.G141R	NM_003867	NP_003858	O60258	FGF17_HUMAN	fibroblast growth factor 17 precursor	118					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		CAAGCTCATCGGGAAGGTGAG	0.552													A	21904139	G	A	21904139	3	1	19	1	0	0	0	0	1	0	0	0	5845	1116	39	1	366	1	FGF17	8	21904139	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1793399	21904139	124459883	1378	15677											
EPB49	2039	broad.mit.edu	37	chr8	21926552	21926553	+	Frame_Shift_Ins	INS	-	-	C													ctgtcacccaaatccacatcINSccccccaccatccccagagg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:21926551_21926552T>TC	uc022asw.1	+	3	312_313	c.274_275T>TC	c.(274-276)tccfs	p.S92fs	EPB49_uc022asq.1_Frame_Shift_Ins_p.S92fs|EPB49_uc011kys.1_Intron|EPB49_uc022asr.1_Frame_Shift_Ins_p.S92fs|EPB49_uc022ass.1_Frame_Shift_Ins_p.S67fs|EPB49_uc022ast.1_Frame_Shift_Ins_p.S92fs|EPB49_uc022asu.1_Frame_Shift_Ins_p.S92fs|EPB49_uc022asv.1_Frame_Shift_Ins_p.S92fs|EPB49_uc022asx.1_Frame_Shift_Ins_p.S92fs|EPB49_uc022asy.1_Frame_Shift_Ins_p.S67fs	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	92					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		CAAATCCACATCCCCCCCACCA	0.604													C	21926553	-	C	21926552	7	5	19	1	0	1	1	0	0	0	0	0	5159	855	30	0	289	0	EPB49	8	21926552	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	22413	21926552	124437470	1379	15678											
HR	55806	broad.mit.edu	37	chr8	21978590	21978590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactcacactgggcagggcCggagtgacgggggcgaaggc	18	11	2	1	rs151306827	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:21978590C>T	uc003xas.2	-	10	3020	c.2355G>A	c.(2353-2355)CCG>CCA	p.P785P	HR_uc003xat.2_Silent_p.P785P	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	785							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TGGGCAGGGCCGGAGTGACGG	0.662													T	21978590	C	T	21978590	2	4	19	1	0	0	0	0	0	0	0	1	7347	639	23	1		1	HR	8	21978590	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	52038	21978590	124385432	1380	15679											
BMP1	649	broad.mit.edu	37	chr8	22054897	22054897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcaagtccgacaacaccGtgtccaaaaagggcttcaag	9	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:22054897G>A	uc003xbg.2	+	15	2315	c.2071G>A	c.(2071-2073)GTG>ATG	p.V691M	BMP1_uc003xba.2_Missense_Mutation_p.V691M|BMP1_uc003xbb.2_Missense_Mutation_p.V691M|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Missense_Mutation_p.V440M|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Missense_Mutation_p.V440M|BMP1_uc011kzc.1_Missense_Mutation_p.V440M|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	691	CUB 3.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CGACAACACCGTGTCCAAAAA	0.567													A	22054897	G	A	22054897	3	1	19	1	0	0	0	0	1	0	0	0	1456	1145	40	1	2129	1	BMP1	8	22054897	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	76307	22054897	124309125	1381	15680											
ADAM28	10863	broad.mit.edu	37	chr8	24188715	24188715	+	Frame_Shift_Del	DEL	T	T	-													gccgtctcagctatgacaagTtttttgaagataaattatca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:24188714_24188714GT>G	uc003xdy.3	+	11	1238	c.1155_1155GT>G	c.(1153-1155)aagfs	p.K385fs	ADAM28_uc003xdx.3_Frame_Shift_Del_p.K385fs|ADAM28_uc011kzz.2_Frame_Shift_Del_p.K152fs|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Frame_Shift_Del_p.K72fs	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	385	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCTATGACAAGTTTTTTGAAG	0.388													-	24188715	T	-	24188715	7	5	19	1	0	1	0	1	0	0	0	0	246	1725	60	0	1202	0	ADAM28	8	24188715	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	2133818	24188715	122175307	1382	15681											
ADAM7	8756	broad.mit.edu	37	chr8	24324356	24324356	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatacctcattgaaccagTgaaatactcagatgagggag	10	7	2	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:24324356T>C	uc003xeb.2	+	6	547	c.434T>C	c.(433-435)GTG>GCG	p.V145A	ADAM7_uc003xea.1_Missense_Mutation_p.V145A	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	145	Extracellular (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)		ATTGAACCAGTGAAATACTCA	0.368													C	24324356	T	C	24324356	3	2	19	1	0	0	0	0	1	0	0	0	251	1696	59	3	456	3	ADAM7	8	24324356	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	135641	24324356	122039666	1383	15682											
ADAM7	8756	broad.mit.edu	37	chr8	24350742	24350742	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaaaatgtggagagggaatGgtaagacaaaagccctttgt	12	5	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:24350742G>T	uc003xeb.2	+	16	1955	c.1842G>T	c.(1840-1842)ATG>ATT	p.M614I	ADAM7_uc003xec.2_Missense_Mutation_p.M386I	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	614	Extracellular (Potential).|Cys-rich.				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)		GAGAGGGAATGGTAAGACAAA	0.363													T	24350742	G	T	24350742	3	4	19	1	0	0	0	0	1	0	0	0	251	1362	47	5	1904	5	ADAM7	8	24350742	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	26386	24350742	122013280	1384	15683											
ADRA1A	148	broad.mit.edu	37	chr8	26722095	26722095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatggttgggtagcgcagcGggtagctcacgccgatgtag	17	9	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:26722095G>A	uc003xfh.1	-	1	828	c.392C>T	c.(391-393)CCG>CTG	p.P131L	ADRA1A_uc003xfc.1_Missense_Mutation_p.P131L|ADRA1A_uc010lul.1_Missense_Mutation_p.P131L|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.P131L|ADRA1A_uc010lum.1_Missense_Mutation_p.P131L|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.P131L	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	131	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GTAGCGCAGCGGGTAGCTCAC	0.612													A	26722095	G	A	26722095	3	1	19	1	0	0	0	0	1	0	0	0	334	1116	39	1	1307	1	ADRA1A	8	26722095	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2371353	26722095	119641927	1385	15684											
SCARA3	51435	broad.mit.edu	37	chr8	27507229	27507229	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcattatagtgaggtcggcCggcggcgatggagatgcctt	15	8	1	2	rs142909298		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:27507229C>T	uc003xga.1	+	2	159	c.18C>T	c.(16-18)GCC>GCT	p.A6A	SCARA3_uc003xgb.1_Silent_p.A6A	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	6	Cytoplasmic (Potential).				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			skin(2)|ovary(1)|breast(1)	4		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		TGAGGTCGGCCGGCGGCGATG	0.587													T	27507229	C	T	27507229	2	4	19	1	0	0	0	0	0	0	0	1	13879	639	23	1		1	SCARA3	8	27507229	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	785134	27507229	118856793	1386	15685											
SCARA3	51435	broad.mit.edu	37	chr8	27516732	27516732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtttgagtctctggaaggaCgcatggcttctcacgagatt	13	8	2	2	rs143642283		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:27516732C>T	uc003xga.1	+	5	1186	c.1045C>T	c.(1045-1047)CGC>TGC	p.R349C	SCARA3_uc003xgb.1_Missense_Mutation_p.R349C	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	349	Extracellular (Potential).				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			skin(2)|ovary(1)|breast(1)	4		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		TCTGGAAGGACGCATGGCTTC	0.522													T	27516732	C	T	27516732	3	4	19	1	0	0	0	0	1	0	0	0	13879	536	19	1	1063	1	SCARA3	8	27516732	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	9503	27516732	118847290	1387	15686											
ESCO2	157570	broad.mit.edu	37	chr8	27657181	27657181	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggataagtagaatctgggttTtcagactgaagagaagaaag	13	3	2	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:27657181T>C	uc003xgg.2	+	10	1704	c.1621T>C	c.(1621-1623)TTC>CTC	p.F541L	ESCO2_uc010luy.1_RNA	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	establishment of cohesion 1 homolog 2	541					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			central_nervous_system(1)	1		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AATCTGGGTTTTCAGACTGAA	0.438									SC_Phocomelia_syndrome				C	27657181	T	C	27657181	3	2	19	1	0	0	0	0	1	0	0	0	5249	1841	64	3	1655	3	ESCO2	8	27657181	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	140449	27657181	118706841	1388	15687											
RBPMS	11030	broad.mit.edu	37	chr8	30332344	30332344	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggatatcaaacctcgggAgctctatctgcttttcagac	8	11	5	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:30332344A>G	uc003xic.1	+	2	781	c.116A>G	c.(115-117)GAG>GGG	p.E39G	RBPMS_uc003xid.1_Missense_Mutation_p.E39G|RBPMS_uc003xie.1_Missense_Mutation_p.E39G|RBPMS_uc003xif.1_5'Flank|RBPMS_uc011lba.1_Missense_Mutation_p.E39G|RBPMS_uc003xib.2_Missense_Mutation_p.E39G|RBPMS_uc010lvh.1_5'UTR	NM_006867	NP_006858	Q93062	RBPMS_HUMAN	RNA-binding protein with multiple splicing	39	RRM.				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		AAACCTCGGGAGCTCTATCTG	0.403													G	30332344	A	G	30332344	3	3	19	1	0	0	0	0	1	0	0	0	13163	304	11	3	122	3	RBPMS	8	30332344	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2675163	30332344	116031678	1389	15688											
RBPMS	11030	broad.mit.edu	37	chr8	30361898	30361899	+	Frame_Shift_Ins	INS	-	-	A													acaaactcgtagggactccaINSaaccccagtactcctctgcc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:30361897_30361898C>CA	uc003xic.1	+	4	1006_1007	c.341_342C>CA	c.(340-342)ccafs	p.P114fs	RBPMS_uc003xid.1_Frame_Shift_Ins_p.P114fs|RBPMS_uc003xie.1_Frame_Shift_Ins_p.P114fs|RBPMS_uc003xif.1_Non-coding_Transcript|RBPMS_uc011lba.1_Frame_Shift_Ins_p.P114fs|RBPMS_uc003xib.3_Frame_Shift_Ins_p.P114fs|RBPMS_uc010lvh.1_Frame_Shift_Ins_p.P10fs	NM_006867	NP_006858	Q93062	RBPMS_HUMAN	Homo sapiens RNA binding protein with multiple splicing (RBPMS), transcript variant 4, mRNA.	114					RNA processing|positive regulation of SMAD protein import into nucleus|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		GTAGGGACTCCAAACCCCAGTA	0.45													A	30361899	-	A	30361898	7	5	19	1	0	1	1	0	0	0	0	0	13163	117	5	0	360	0	RBPMS	8	30361898	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	29554	30361898	116002124	1390	15689											
GSR	2936	broad.mit.edu	37	chr8	30560644	30560644	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgaggggtggagggcatAccacctgtggcgatcaggat	16	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:30560644A>G	uc003xih.1	-	5	697	c.606T>C	c.(604-606)GGT>GGC	p.G202G		NM_000637	NP_000628	P00390	GSHR_HUMAN	glutathione reductase precursor	202					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			ovary(2)|pancreas(2)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TGGAGGGCATACCACCTGTGG	0.527													G	30560644	A	G	30560644	2	3	19	1	0	0	0	0	0	0	0	1	6828	378	14	3		3	GSR	8	30560644	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	198746	30560644	115803378	1391	15690											
PPP2CB	5516	broad.mit.edu	37	chr8	30657228	30657228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagacagtaacagggcaaCgaacctcttgcacatttgat	8	11	1	2	rs139426941		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:30657228C>T	uc003xik.2	-	3	381	c.146G>A	c.(145-147)CGT>CAT	p.R49H		NM_004156	NP_004147	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta	49					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	AACAGGGCAACGAACCTCTTG	0.333													T	30657228	C	T	30657228	3	4	19	1	0	0	0	0	1	0	0	0	12381	536	19	1	807	1	PPP2CB	8	30657228	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	96584	30657228	115706794	1392	15691											
TEX15	56154	broad.mit.edu	37	chr8	30694355	30694355	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctggaggcacaaatcgatTaggaaggtaagggtatgtag	14	4	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:30694355T>C	uc003xil.2	-	3	8296	c.8296A>G	c.(8296-8298)AAT>GAT	p.N2766D		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2766										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACAAATCGATTAGGAAGGTAA	0.368													C	30694355	T	C	30694355	3	2	19	1	0	0	0	0	1	0	0	0	15776	1754	61	3	81	3	TEX15	8	30694355	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	37127	30694355	115669667	1393	15692											
DUSP26	78986	broad.mit.edu	37	chr8	33454979	33454979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagaccttgagctactccGggagaagcgggccataaaag	14	9	0	3	rs114901124	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:33454979G>A	uc003xjp.2	-	2	388	c.55C>T	c.(55-57)CGG>TGG	p.R19W	DUSP26_uc003xjq.2_Missense_Mutation_p.R19W	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26	19						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GAGCTACTCCGGGAGAAGCGG	0.557													A	33454979	G	A	33454979	3	1	19	1	0	0	0	0	1	0	0	0	4823	1115	39	1	592	1	DUSP26	8	33454979	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2760624	33454979	112909043	1394	15693											
UNC5D	137970	broad.mit.edu	37	chr8	35406931	35406931	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccctattgcactcaggtgCaaagcgaggccagccatgca	10	13	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:35406931C>T	uc003xjr.1	+	2	553	c.225C>T	c.(223-225)TGC>TGT	p.C75C	UNC5D_uc003xjs.1_Silent_p.C70C	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	75	Extracellular (Potential).|Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CACTCAGGTGCAAAGCGAGGC	0.507													T	35406931	C	T	35406931	2	4	19	1	0	0	0	0	0	0	0	1	16992	718	25	2		2	UNC5D	8	35406931	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1951952	35406931	110957091	1395	15694											
KCNU1	157855	broad.mit.edu	37	chr8	36644862	36644862	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatcgctaggagccatgtAagaagcctccacttccaggg	10	13	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:36644862A>G	uc010lvw.2	+	2	321	c.234A>G	c.(232-234)GTA>GTG	p.V78V	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	78	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GGAGCCATGTAAGAAGCCTCC	0.423													G	36644862	A	G	36644862	2	3	19	1	0	0	0	0	0	0	0	1	8093	349	13	3		3	KCNU1	8	36644862	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1237931	36644862	109719160	1396	15695											
ZNF703	80139	broad.mit.edu	37	chr8	37556077	37556077	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccctatggcaagagccactTatccacagcggggggcctgg	13	14	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:37556077T>C	uc003xjy.1	+	2	1855	c.1658T>C	c.(1657-1659)TTA>TCA	p.L553S		NM_025069	NP_079345	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	553					adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			AAGAGCCACTTATCCACAGCG	0.527													C	37556077	T	C	37556077	3	2	19	1	0	0	0	0	1	0	0	0	18103	1764	61	3	1664	3	ZNF703	8	37556077	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	911215	37556077	108807945	1397	15696											
GPR124	25960	broad.mit.edu	37	chr8	37696520	37696520	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggggcgccggggcagggcTgcaccccgtggtatacccct	18	14	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:37696520T>C	uc003xkj.2	+	15	2669	c.2306T>C	c.(2305-2307)CTG>CCG	p.L769P	GPR124_uc010lvy.2_Missense_Mutation_p.L552P	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	769	Extracellular (Potential).				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGGGCAGGGCTGCACCCCGTG	0.662													C	37696520	T	C	37696520	3	2	19	1	0	0	0	0	1	0	0	0	6638	1580	55	3	2343	3	GPR124	8	37696520	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	140443	37696520	108667502	1398	15697											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37729770	37729770	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagactcaggaggctctccGtcagacgcgtttccagcaac	12	13	3	2	rs142300397		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:37729770G>A	uc003xkm.1	-	4	2594	c.2550C>T	c.(2548-2550)GAC>GAT	p.D850D	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Silent_p.D179D|RAB11FIP1_uc003xko.1_Silent_p.D179D|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	850					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GAGGCTCTCCGTCAGACGCGT	0.642													A	37729770	G	A	37729770	2	1	19	1	0	0	0	0	0	0	0	1	12893	1136	40	1		1	RAB11FIP1	8	37729770	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	33250	37729770	108634252	1399	15698											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37730181	37730182	+	Frame_Shift_Ins	INS	-	-	T													atgatgggctgtagtcttgtINStttttgcaggggaatctcgg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:37730180_37730181G>GT	uc003xkm.2	-	3	2195_2196	c.2139_2140C>AC	c.(2137-2142)aaacaafs	p.K713fs	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Frame_Shift_Ins_p.K42fs|RAB11FIP1_uc003xko.1_Frame_Shift_Ins_p.K42fs|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	713					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGTAGTCTTGTTTTTTGCAGG	0.545													T	37730182	-	T	37730181	7	5	19	1	0	1	1	0	0	0	0	0	12893	1722	60	0	1724	0	RAB11FIP1	8	37730181	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	411	37730181	108633841	1400	15699											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37734740	37734740	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aagtcggcaggacagacatgGactgggaaagaggcgtcttc	15	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:37734740G>C	uc003xkm.1	-	2	745	c.701C>G	c.(700-702)TCC>TGC	p.S234C	RAB11FIP1_uc010lvz.1_Missense_Mutation_p.S82C|RAB11FIP1_uc003xkn.1_Missense_Mutation_p.S234C|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.S82C	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	234					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GACAGACATGGACTGGGAAAG	0.458													C	37734740	G	C	37734740	3	2	19	1	0	0	0	0	1	0	0	0	12893	1174	41	5	3170	5	RAB11FIP1	8	37734740	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	4559	37734740	108629282	1401	15700											
GOT1L1	137362	broad.mit.edu	37	chr8	37791963	37791963	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatctgaccgttcttggggaTatagatgtgcttcttcctga	10	8	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:37791963T>A	uc011lbj.1	-	9	1214	c.1114A>T	c.(1114-1116)ATC>TTC	p.I372F		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	372					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			ovary(1)	1	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			TTCTTGGGGATATAGATGTGC	0.473													A	37791963	T	A	37791963	3	1	19	1	0	0	0	0	1	0	0	0	6580	1406	49	5	155	5	GOT1L1	8	37791963	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	57223	37791963	108572059	1402	15701											
WHSC1L1	54904	broad.mit.edu	37	chr8	38146075	38146075	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatctctgcatcagggTatagtctctttgtaaagcac	9	8	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:38146075T>C	uc003xli.2	-	19	3949	c.3431A>G	c.(3430-3432)TAC>TGC	p.Y1144C	WHSC1L1_uc011lbm.1_Missense_Mutation_p.Y1144C|WHSC1L1_uc010lwe.2_Missense_Mutation_p.Y1095C	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	1144	SET.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGCATCAGGGTATAGTCTCTT	0.532			T	NUP98	AML								C	38146075	T	C	38146075	3	2	19	1	0	0	0	0	1	0	0	0	17360	1638	57	3	906	3	WHSC1L1	8	38146075	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	354112	38146075	108217947	1403	15702											
ANK1	286	broad.mit.edu	37	chr8	41542098	41542098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgacagcgagtagtcgcggtCggtgtgccgcctgtctggct	16	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:41542098C>T	uc003xok.2	-	37	4585	c.4501G>A	c.(4501-4503)GAC>AAC	p.D1501N	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.D817N|ANK1_uc003xoi.2_Missense_Mutation_p.D1501N|ANK1_uc003xoj.2_Missense_Mutation_p.D1501N|ANK1_uc003xol.2_Missense_Mutation_p.D1501N|ANK1_uc003xom.2_Missense_Mutation_p.D1542N	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1501	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TAGTCGCGGTCGGTGTGCCGC	0.617													T	41542098	C	T	41542098	3	4	19	1	0	0	0	0	1	0	0	0	620	884	31	1	1494	1	ANK1	8	41542098	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3396023	41542098	104821924	1404	15703											
MYST3	7994	broad.mit.edu	37	chr8	41798556	41798556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcttttcttgagctgtcctCgccagggctcaaccccctca	9	16	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:41798556C>T	uc010lxb.2	-	16	3387	c.2843G>A	c.(2842-2844)CGA>CAA	p.R948Q	MYST3_uc010lxc.2_Missense_Mutation_p.R948Q|MYST3_uc003xon.3_Missense_Mutation_p.R948Q	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	948					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			GAGCTGTCCTCGCCAGGGCTC	0.572													T	41798556	C	T	41798556	3	4	19	1	0	0	0	0	1	0	0	0	10104	884	31	1	3183	1	MYST3	8	41798556	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	256458	41798556	104565466	1405	15704											
HOOK3	84376	broad.mit.edu	37	chr8	42819609	42819609	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagaacagctccaagaagaAacattcaggtaaaagacaac	7	8	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:42819609A>G	uc003xpr.2	+	9	1013	c.771A>G	c.(769-771)GAA>GAG	p.E257E	HOOK3_uc010lxq.1_Silent_p.E257E	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	257	Potential.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TCCAAGAAGAAACATTCAGGT	0.303			T	RET	papillary thyroid								G	42819609	A	G	42819609	2	3	19	1	0	0	0	0	0	0	0	1	7284	11	1	3		3	HOOK3	8	42819609	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1021053	42819609	103544413	1406	15705											
HGSNAT	138050	broad.mit.edu	37	chr8	43048914	43048914	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttaaggtactttaccacacCgaggtggcctatgaccccga	10	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:43048914C>A	uc003xpx.3	+	14	1440	c.1392C>A	c.(1390-1392)ACC>ACA	p.T464T		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	492	Lumenal, vesicle (Potential).				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity				0	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TTTACCACACCGAGGTGGCCT	0.453													A	43048914	C	A	43048914	2	1	19	1	0	0	0	0	0	0	0	1	7088	639	23	5		5	HGSNAT	8	43048914	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	229305	43048914	103315108	1407	15706											
MCM4	4173	broad.mit.edu	37	chr8	48888286	48888286	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaatcagggatgagtgccAcctctcgtaaacggaaagaa	10	8	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:48888286A>G	uc003xqk.1	+	16	2472	c.2377A>G	c.(2377-2379)ACC>GCC	p.T793A	MCM4_uc003xql.1_Missense_Mutation_p.T793A|MCM4_uc011ldi.1_Missense_Mutation_p.T780A	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	793					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GATGAGTGCCACCTCTCGTAA	0.318													G	48888286	A	G	48888286	3	3	19	1	0	0	0	0	1	0	0	0	9389	159	6	3	2435	3	MCM4	8	48888286	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	5839372	48888286	97475736	1408	15707											
PXDNL	137902	broad.mit.edu	37	chr8	52321166	52321166	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgtgctgcagctccgcGcccacgatcttcctggcttc	11	15	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:52321166G>A	uc003xqu.3	-	17	3119	c.3018C>T	c.(3016-3018)GGC>GGT	p.G1006G	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1006					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCAGCTCCGCGCCCACGATCT	0.622													A	52321166	G	A	52321166	2	1	19	1	0	0	0	0	0	0	0	1	12848	1074	38	1		1	PXDNL	8	52321166	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3432880	52321166	94042856	1409	15708											
PCMTD1	115294	broad.mit.edu	37	chr8	52758239	52758239	+	Frame_Shift_Del	DEL	T	T	-													acttatcaaagctatcactaTttttgatgaagctctccagt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:52758238_52758238AT>A	uc003xqx.4	-	2	734	c.393_393AT>T	c.(391-393)aatfs	p.N131fs	PCMTD1_uc011ldn.2_5'UTR|PCMTD1_uc010lya.3_Intron|PCMTD1_uc011ldo.1_Frame_Shift_Del_p.N131fs	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	131						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AGCTATCACTATTTTTGATGA	0.333													-	52758239	T	-	52758239	7	5	19	1	0	1	0	1	0	0	0	0	11586	1493	52	0	697	0	PCMTD1	8	52758239	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	437073	52758239	93605783	1410	15709											
ST18	9705	broad.mit.edu	37	chr8	53073967	53073967	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgtttttcgtccttgcActgtttgtatgagagggcgt	14	6	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:53073967A>T	uc003xqz.2	-	9	1718	c.1562T>A	c.(1561-1563)GTG>GAG	p.V521E	ST18_uc011ldq.1_Missense_Mutation_p.V168E|ST18_uc011ldr.1_Missense_Mutation_p.V486E|ST18_uc011lds.1_Missense_Mutation_p.V426E|ST18_uc003xra.2_Missense_Mutation_p.V521E|ST18_uc003xrb.2_Missense_Mutation_p.V521E	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	521						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCGTCCTTGCACTGTTTGTAT	0.428													T	53073967	A	T	53073967	3	4	19	1	0	0	0	0	1	0	0	0	15211	159	6	5	1633	5	ST18	8	53073967	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	315728	53073967	93290055	1411	15710											
XKR4	114786	broad.mit.edu	37	chr8	56015361	56015361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcctgggcagggagcagCggcgctactcactgtgggac	17	12	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:56015361C>T	uc003xsf.2	+	1	345	c.313C>T	c.(313-315)CGG>TGG	p.R105W		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	105						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAGGGAGCAGCGGCGCTACTC	0.478													T	56015361	C	T	56015361	3	4	19	1	0	0	0	0	1	0	0	0	17430	759	27	1	315	1	XKR4	8	56015361	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2941394	56015361	90348661	1412	15711											
XKR4	114786	broad.mit.edu	37	chr8	56015787	56015787	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaagcacaggtctgcgTcctgctccttctgcatctgg	12	13	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:56015787T>C	uc003xsf.2	+	1	771	c.739T>C	c.(739-741)TCC>CCC	p.S247P		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	247						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAGGTCTGCGTCCTGCTCCTT	0.602													C	56015787	T	C	56015787	3	2	19	1	0	0	0	0	1	0	0	0	17430	1667	58	3	741	3	XKR4	8	56015787	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	426	56015787	90348235	1413	15712											
PLAG1	5324	broad.mit.edu	37	chr8	57078885	57078885	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgacagtgagtgcagagAcccaagccctatagtgtttg	12	9	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:57078885A>G	uc003xsq.3	-	3	1871	c.1420T>C	c.(1420-1422)TCT>CCT	p.S474P	PLAG1_uc003xsr.3_Missense_Mutation_p.S474P|PLAG1_uc010lyi.2_Missense_Mutation_p.S474P|PLAG1_uc010lyj.2_Missense_Mutation_p.S392P	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	474	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GAGTGCAGAGACCCAAGCCCT	0.493			T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma								G	57078885	A	G	57078885	3	3	19	1	0	0	0	0	1	0	0	0	12018	275	10	3	86	3	PLAG1	8	57078885	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1063098	57078885	89285137	1414	15713											
PLAG1	5324	broad.mit.edu	37	chr8	57079206	57079206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttgggatgaagagggcaCgccaccttgtaactccatca	10	11	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:57079206C>T	uc003xsq.3	-	3	1550	c.1099G>A	c.(1099-1101)GTG>ATG	p.V367M	PLAG1_uc003xsr.3_Missense_Mutation_p.V367M|PLAG1_uc010lyi.2_Missense_Mutation_p.V367M|PLAG1_uc010lyj.2_Missense_Mutation_p.V285M	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	367	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GAAGAGGGCACGCCACCTTGT	0.458			T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma								T	57079206	C	T	57079206	3	4	19	1	0	0	0	0	1	0	0	0	12018	536	19	1	407	1	PLAG1	8	57079206	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	321	57079206	89284816	1415	15714											
CYP7A1	1581	broad.mit.edu	37	chr8	59407183	59407183	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagtagctgctttcatTgcttctgggttcctattaaa	7	9	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:59407183T>C	uc003xtm.3	-	4	984	c.921A>G	c.(919-921)GCA>GCG	p.A307A		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	307					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CTGCTTTCATTGCTTCTGGGT	0.373									Neonatal_Giant_Cell_Hepatitis				C	59407183	T	C	59407183	2	2	19	1	0	0	0	0	0	0	0	1	4196	1799	63	3		3	CYP7A1	8	59407183	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2327977	59407183	86956839	1416	15715											
NSMAF	8439	broad.mit.edu	37	chr8	59522202	59522202	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaatacaggtttgtgtcCgtgatgcacacgtgtccagg	12	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:59522202C>T	uc003xtt.2	-	10	862	c.648G>A	c.(646-648)ACG>ACA	p.T216T	NSMAF_uc011lee.1_Silent_p.T247T|NSMAF_uc003xtu.2_Silent_p.T216T	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	216	GRAM.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)				GGTTTGTGTCCGTGATGCACA	0.502													T	59522202	C	T	59522202	2	4	19	1	0	0	0	0	0	0	0	1	10674	639	23	1		1	NSMAF	8	59522202	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	115019	59522202	86841820	1417	15716											
CHD7	55636	broad.mit.edu	37	chr8	61765496	61765496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgagcaggttctccatcAcccccagctgggagagaggc	13	15	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:61765496A>G	uc003xue.2	+	31	6689	c.6212A>G	c.(6211-6213)CAC>CGC	p.H2071R		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2071					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTTCTCCATCACCCCCAGCTG	0.582													G	61765496	A	G	61765496	3	3	19	1	0	0	0	0	1	0	0	0	3330	159	6	3	6330	3	CHD7	8	61765496	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2243294	61765496	84598526	1418	15717											
MTFR1	9650	broad.mit.edu	37	chr8	66619270	66619270	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagattctaccacatttggTaccataccaccacaccctcc	3	16	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:66619270T>C	uc003xvm.2	+	6	755	c.543T>C	c.(541-543)GGT>GGC	p.G181G	MTFR1_uc011lep.1_Silent_p.G181G|MTFR1_uc003xvn.2_Silent_p.G148G|MTFR1_uc003xvo.1_Silent_p.G171G	NM_014637	NP_055452	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1 isoform 1	181						mitochondrion|plasma membrane				pancreas(1)	1			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			CCACATTTGGTACCATACCAC	0.443													C	66619270	T	C	66619270	2	2	19	1	0	0	0	0	0	0	0	1	9925	1625	57	3		3	MTFR1	8	66619270	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	4853774	66619270	79744752	1419	15718											
CRH	1392	broad.mit.edu	37	chr8	67089245	67089245	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatccagggagatgggaggCtcctcggaccgcctttctct	13	12	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:67089245C>T	uc003xvy.1	-	2	653	c.468G>A	c.(466-468)GAG>GAA	p.E156E		NM_000756	NP_000747	P06850	CRF_HUMAN	corticotropin releasing hormone precursor	156					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity				0		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	AGATGGGAGGCTCCTCGGACC	0.662											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	67089245	C	T	67089245	2	4	19	1	0	0	0	0	0	0	0	1	3869	796	28	2		2	CRH	8	67089245	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	469975	67089245	79274777	1420	15719											
RRS1	23212	broad.mit.edu	37	chr8	67341501	67341501	+	Frame_Shift_Del	DEL	C	C	-													ctgctggcgtcggaccggaaCcccccgaccgggctgcggtg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:67341501delC	uc003xwa.2	+	1	239	c.135delC	c.(133-135)AACfs	p.N45fs		NM_015169	NP_055984	Q15050	RRS1_HUMAN	homolog of yeast ribosome biogenesis regulatory	45					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus					0		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CGGACCGGAACCCCCCGACCG	0.672											OREG0018806	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	67341501	C	-	67341501	7	5	19	1	0	1	0	1	0	0	0	0	13692	506	18	0	137	0	RRS1	8	67341501	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	252256	67341501	79022521	1421	15720											
MYBL1	4603	broad.mit.edu	37	chr8	67488460	67488460	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accattacaagtgtttttttTcccttcaagtacaagactga	5	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:67488460T>C	uc003xwj.2	-	10	1659	c.1252A>G	c.(1252-1254)AAA>GAA	p.K418E	MYBL1_uc003xwl.2_Missense_Mutation_p.K418E|MYBL1_uc003xwk.2_Missense_Mutation_p.K417E	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	v-myb myeloblastosis viral oncogene homolog	418	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)	3			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			GTGTTTTTTTTCCCTTCAAGT	0.413													C	67488460	T	C	67488460	3	2	19	1	0	0	0	0	1	0	0	0	10009	1792	62	3	1034	3	MYBL1	8	67488460	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	146959	67488460	78875562	1422	15721											
VCPIP1	80124	broad.mit.edu	37	chr8	67578127	67578127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttatgcctaccaaggggAtataatggtttctaccggag	10	8	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:67578127A>G	uc003xwn.2	-	1	1326	c.1067T>C	c.(1066-1068)ATC>ACC	p.I356T	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	356	OTU.				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TACCAAGGGGATATAATGGTT	0.463													G	67578127	A	G	67578127	3	3	19	1	0	0	0	0	1	0	0	0	17138	333	12	3	2613	3	VCPIP1	8	67578127	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	89667	67578127	78785895	1423	15722											
CSPP1	79848	broad.mit.edu	37	chr8	68044279	68044279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccgaaaccttccaaacaGtcacttcagtcttaccaaga	4	13	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:68044279G>A	uc003xxi.2	+	16	1912	c.1881G>A	c.(1879-1881)CAG>CAA	p.Q627Q	CSPP1_uc003xxg.1_Silent_p.Q619Q|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Silent_p.Q592Q|CSPP1_uc003xxk.2_Silent_p.Q298Q	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	627	Potential.					centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CTTCCAAACAGTCACTTCAGT	0.363													A	68044279	G	A	68044279	2	1	19	1	0	0	0	0	0	0	0	1	3962	1020	36	4		4	CSPP1	8	68044279	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	466152	68044279	78319743	1424	15723											
ARFGEF1	10565	broad.mit.edu	37	chr8	68200234	68200234	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctacaatgttctgtacaAtgtcttgtggcttttcctca	6	10	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:68200234A>G	uc003xxo.1	-	7	1373	c.983T>C	c.(982-984)ATT>ACT	p.I328T		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	328					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTTCTGTACAATGTCTTGTGG	0.313													G	68200234	A	G	68200234	3	3	19	1	0	0	0	0	1	0	0	0	852	101	4	3	4698	3	ARFGEF1	8	68200234	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	155955	68200234	78163788	1425	15724											
CPA6	57094	broad.mit.edu	37	chr8	68334846	68334846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtaaaaatccaaaatatcCagtgtcacgtagttcgaaag	8	7	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:68334846C>T	uc003xxq.3	-	11	1463	c.1207G>A	c.(1207-1209)GGA>AGA	p.G403R	CPA6_uc003xxr.3_Missense_Mutation_p.G159R	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6 isoform 1 precursor	403					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CCAAAATATCCAGTGTCACGT	0.383													T	68334846	C	T	68334846	3	4	19	1	0	0	0	0	1	0	0	0	3794	603	21	4	110	4	CPA6	8	68334846	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	134612	68334846	78029176	1426	15725											
PREX2	80243	broad.mit.edu	37	chr8	69021847	69021847	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggagatgtgtgtttgTcaaatagatgagtaagtgtt	15	1	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:69021847T>C	uc003xxv.1	+	25	3162	c.3135T>C	c.(3133-3135)TGT>TGC	p.C1045C	PREX2_uc011lez.1_Silent_p.C980C	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1045					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						TGTGTGTTTGTCAAATAGATG	0.353													C	69021847	T	C	69021847	2	2	19	1	0	0	0	0	0	0	0	1	12477	1673	58	3		3	PREX2	8	69021847	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	687001	69021847	77342175	1427	15726											
SLCO5A1	81796	broad.mit.edu	37	chr8	70585127	70585127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggcggctccaaggcagCggggctctcttccagccccg	16	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:70585127C>T	uc003xyl.2	-	10	3231	c.2524G>A	c.(2524-2526)GCT>ACT	p.A842T	SLCO5A1_uc010lzb.2_Missense_Mutation_p.A787T|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	842						integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCCAAGGCAGCGGGGCTCTCT	0.532													T	70585127	C	T	70585127	3	4	19	1	0	0	0	0	1	0	0	0	14731	768	27	1	26	1	SLCO5A1	8	70585127	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1563280	70585127	75778895	1428	15727											
SLCO5A1	81796	broad.mit.edu	37	chr8	70617453	70617453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaacaccagcactggggaCgataataacccctggggaga	11	12	0	1	rs141622109		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:70617453C>T	uc003xyl.2	-	6	2142	c.1435G>A	c.(1435-1437)GTC>ATC	p.V479I	SLCO5A1_uc010lzb.2_Missense_Mutation_p.V424I|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Missense_Mutation_p.V479I|SLCO5A1_uc010lzc.2_Missense_Mutation_p.V424I	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	479	Helical; Name=8; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GCACTGGGGACGATAATAACC	0.413													T	70617453	C	T	70617453	3	4	19	1	0	0	0	0	1	0	0	0	14731	536	19	1	1131	1	SLCO5A1	8	70617453	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	32326	70617453	75746569	1429	15728											
PRDM14	63978	broad.mit.edu	37	chr8	70981471	70981471	+	Frame_Shift_Del	DEL	C	C	-													gtgctccaggctgggagtgaCcccgtacagaacgaagtgca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:70981470_70981470AC>A	uc003xym.3	-	1	828	c.626_626GT>T	c.(625-627)gtcfs	p.V209fs		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G208R(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCTGGGAGTGACCCCGTACAG	0.592													-	70981471	C	-	70981471	7	5	19	1	0	1	0	1	0	0	0	0	12455	507	18	0	1118	0	PRDM14	8	70981471	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	364018	70981471	75382551	1430	15729											
NCOA2	10499	broad.mit.edu	37	chr8	71068739	71068739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagctctctcactgctcaCggccgggggcaggttggggt	16	12	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:71068739C>T	uc003xyn.1	-	11	2023	c.1861G>A	c.(1861-1863)GTG>ATG	p.V621M		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	621					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TCACTGCTCACGGCCGGGGGC	0.562			T	RUNXBP2	AML								T	71068739	C	T	71068739	3	4	19	1	0	0	0	0	1	0	0	0	10229	536	19	1	2585	1	NCOA2	8	71068739	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	87268	71068739	75295283	1431	15730											
LACTB2	51110	broad.mit.edu	37	chr8	71556421	71556421	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccagaaaagatagcattTtcctcttctaagagtagagc	7	9	3	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:71556421T>C	uc011lfd.1	-	4	563	c.471A>G	c.(469-471)GAA>GAG	p.E157E	LACTB2_uc003xyp.2_Silent_p.E157E	NM_016027	NP_057111	Q53H82	LACB2_HUMAN	lactamase, beta 2	157							hydrolase activity|metal ion binding			ovary(1)	1	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AGATAGCATTTTCCTCTTCTA	0.358													C	71556421	T	C	71556421	2	2	19	1	0	0	0	0	0	0	0	1	8598	1838	64	3		3	LACTB2	8	71556421	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	487682	71556421	74807601	1432	15731											
EYA1	2138	broad.mit.edu	37	chr8	72127938	72127938	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccctcaactgcagccaggcTtccctcttagctggaccaag	9	16	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:72127938T>G	uc003xys.3	-	14	1673	c.1386A>C	c.(1384-1386)GAA>GAC	p.E462D	EYA1_uc003xyr.3_Missense_Mutation_p.E427D|EYA1_uc003xyt.3_Missense_Mutation_p.E429D|EYA1_uc010lzf.2_Missense_Mutation_p.E389D|EYA1_uc003xyu.2_Missense_Mutation_p.E462D|EYA1_uc011lfe.1_Missense_Mutation_p.E456D|EYA1_uc003xyv.2_Missense_Mutation_p.E340D	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	462					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GCAGCCAGGCTTCCCTCTTAG	0.498													G	72127938	T	G	72127938	3	3	19	1	0	0	0	0	1	0	0	0	5328	1606	56	5	408	5	EYA1	8	72127938	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	571517	72127938	74236084	1433	15732											
MSC	9242	broad.mit.edu	37	chr8	72756065	72756065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacgcgcatccgggcacGctcacgggcgttggccgcgt	15	16	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:72756065G>A	uc003xyx.1	-	1	667	c.349C>T	c.(349-351)CGT>TGT	p.R117C	uc011lff.1_Intron|uc003xyy.2_5'Flank	NM_005098	NP_005089	O60682	MUSC_HUMAN	musculin	117	Basic motif.				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			ATCCGGGCACGCTCACGGGCG	0.687											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	72756065	G	A	72756065	3	1	19	1	0	0	0	0	1	0	0	0	9868	1087	38	1	279	1	MSC	8	72756065	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	628127	72756065	73607957	1434	15733											
TRPA1	8989	broad.mit.edu	37	chr8	72950278	72950278	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacttgataaaaacactaaAatcatacaagtttttattag	3	5	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:72950278A>G	uc003xza.2	-	20	2500	c.2325T>C	c.(2323-2325)ATT>ATC	p.I775I	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	775	Helical; Name=2; (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	AAAACACTAAAATCATACAAG	0.269													G	72950278	A	G	72950278	2	3	19	1	0	0	0	0	0	0	0	1	16574	10	1	3		3	TRPA1	8	72950278	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	194213	72950278	73413744	1435	15734											
TRPA1	8989	broad.mit.edu	37	chr8	72958792	72958792	+	Frame_Shift_Del	DEL	T	T	-													tataacatcctgtgtaggtgTttttttggtgaattctaatg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:72958791_72958791GT>G	uc003xza.3	-	16	2193	c.2018_2018AC>C	c.(2017-2019)acafs	p.T673fs	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	673						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTGTGTAGGTGTTTTTTTGGT	0.269													-	72958792	T	-	72958792	7	5	19	1	0	1	0	1	0	0	0	0	16574	1725	60	0	1386	0	TRPA1	8	72958792	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	8514	72958792	73405230	1436	15735											
TRPA1	8989	broad.mit.edu	37	chr8	72973946	72973946	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatatcatcagtttaacaatCtcagtggctccctgggtggc	10	10	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:72973946C>T	uc003xza.2	-	7	1033	c.858G>A	c.(856-858)GAG>GAA	p.E286E		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	286	Cytoplasmic (Potential).|ANK 7.					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	GTTTAACAATCTCAGTGGCTC	0.423													T	72973946	C	T	72973946	2	4	19	1	0	0	0	0	0	0	0	1	16574	912	32	4		4	TRPA1	8	72973946	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	15154	72973946	73390076	1437	15736											
TMEM70	54968	broad.mit.edu	37	chr8	74888567	74888567	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtcgaactgcctctctgCggaaggaggactgcattgtg	15	10	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:74888567C>T	uc003yab.2	+	1	138	c.51C>T	c.(49-51)TGC>TGT	p.C17C	TMEM70_uc003yac.2_Silent_p.C17C	NM_017866	NP_060336	Q9BUB7	TMM70_HUMAN	transmembrane protein 70 isoform a	17					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane				ovary(1)	1	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			TGCCTCTCTGCGGAAGGAGGA	0.721													T	74888567	C	T	74888567	2	4	19	1	0	0	0	0	0	0	0	1	16196	776	27	1		1	TMEM70	8	74888567	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1914621	74888567	71475455	1438	15737											
JPH1	56704	broad.mit.edu	37	chr8	75227698	75227698	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgtcggcggcggctgcGgcgtcgtggagcacgctgcc	20	13	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:75227698G>A	uc003yae.2	-	2	577	c.537C>T	c.(535-537)GCC>GCT	p.A179A	JPH1_uc003yaf.2_Silent_p.A179A|JPH1_uc003yag.1_Silent_p.A43A	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	179	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CGGCGGCTGCGGCGTCGTGGA	0.706													A	75227698	G	A	75227698	2	1	19	1	0	0	0	0	0	0	0	1	7960	1103	39	1		1	JPH1	8	75227698	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	339131	75227698	71136324	1439	15738											
GDAP1	54332	broad.mit.edu	37	chr8	75272475	75272475	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaatggatgcctatacacaTggctgcattttacatcctga	7	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:75272475T>C	uc003yah.2	+	3	493	c.414T>C	c.(412-414)CAT>CAC	p.H138H	GDAP1_uc011lfj.1_Silent_p.H23H|GDAP1_uc003yai.2_Silent_p.H70H	NM_018972	NP_061845	Q8TB36	GDAP1_HUMAN	ganglioside-induced differentiation-associated	138						cytoplasm					0	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CCTATACACATGGCTGCATTT	0.433													C	75272475	T	C	75272475	2	2	19	1	0	0	0	0	0	0	0	1	6307	1461	51	3		3	GDAP1	8	75272475	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	44777	75272475	71091547	1440	15739											
ZFHX4	79776	broad.mit.edu	37	chr8	77616900	77616900	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgttctacccacagatcatcAacacttttcatatcgcttca	3	14	5	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:77616900A>G	uc003yav.2	+	2	964	c.577A>G	c.(577-579)AAC>GAC	p.N193D	ZFHX4_uc003yat.1_Missense_Mutation_p.N193D|ZFHX4_uc003yau.1_Missense_Mutation_p.N193D|ZFHX4_uc003yaw.1_Missense_Mutation_p.N193D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	193						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACAGATCATCAACACTTTTCA	0.488										HNSCC(33;0.089)			G	77616900	A	G	77616900	3	3	19	1	0	0	0	0	1	0	0	0	17632	130	5	3	579	3	ZFHX4	8	77616900	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2344425	77616900	68747122	1441	15740											
ZFHX4	79776	broad.mit.edu	37	chr8	77690625	77690625	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggcctggcaccagaggaggAcaacctcagtgagatctttt	12	10	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:77690625A>T	uc003yav.2	+	4	3584	c.3197A>T	c.(3196-3198)GAC>GTC	p.D1066V	ZFHX4_uc003yau.1_Missense_Mutation_p.D1092V|ZFHX4_uc003yaw.1_Missense_Mutation_p.D1066V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1066						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAGAGGAGGACAACCTCAGT	0.527										HNSCC(33;0.089)			T	77690625	A	T	77690625	3	4	19	1	0	0	0	0	1	0	0	0	17632	275	10	5	3285	5	ZFHX4	8	77690625	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	73725	77690625	68673397	1442	15741											
RALYL	138046	broad.mit.edu	37	chr8	85799997	85799997	+	Frame_Shift_Del	DEL	G	G	-													aggaggacttcgatgaagatGggggtcatgagctggtagga							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:85799996_85799996TG>T	uc003yct.4	+	7	1016	c.882_882TG>T	c.(880-882)gatfs	p.D294fs	RALYL_uc003ycq.4_Frame_Shift_Del_p.D281fs|RALYL_uc003ycr.4_Frame_Shift_Del_p.D281fs|RALYL_uc003ycs.4_Frame_Shift_Del_p.D281fs|RALYL_uc010lzy.3_Frame_Shift_Del_p.D270fs|RALYL_uc003ycu.4_Frame_Shift_Del_p.D208fs	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	281							RNA binding|identical protein binding|nucleotide binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TCGATGAAGATGGGGGTCATG	0.453													-	85799997	G	-	85799997	7	5	19	1	0	1	0	1	0	0	0	0	13020	1348	47	0	913	0	RALYL	8	85799997	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	8109372	85799997	60564025	1443	15742											
LRRCC1	85444	broad.mit.edu	37	chr8	86041489	86041489	+	Frame_Shift_Del	DEL	A	A	-													acaaacttcaaaatgaaattAaaaaactgactgttgaacta							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:86041488_86041488TA>T	uc003ycw.3	+	9	1708	c.1500_1500TA>T	c.(1498-1500)attfs	p.I500fs	LRRCC1_uc010lzz.2_Intron|LRRCC1_uc022awx.1_Frame_Shift_Del_p.I407fs|LRRCC1_uc010maa.2_Frame_Shift_Del_p.I201fs|LRRCC1_uc003ycy.3_Frame_Shift_Del_p.I480fs	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	500					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AAAATGAAATTAAAAAACTGA	0.323													-	86041489	A	-	86041489	7	5	19	1	0	1	0	1	0	0	0	0	9026	363	13	0	1539	0	LRRCC1	8	86041489	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	241492	86041489	60322533	1444	15743											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885724	88885724	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgaacagcgacgctgggAgcagcacggcacagcttgga	14	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:88885724A>G	uc003ydz.2	-	1	573	c.476T>C	c.(475-477)CTC>CCC	p.L159P		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	159										ovary(1)	1						CGACGCTGGGAGCAGCACGGC	0.562													G	88885724	A	G	88885724	3	3	19	1	0	0	0	0	1	0	0	0	4272	304	11	3	715	3	DCAF4L2	8	88885724	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2844235	88885724	57478298	1445	15744											
NBN	4683	broad.mit.edu	37	chr8	90976668	90976668	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggccctgaggatcacagtAattctttgtagtcatgaaaa	9	7	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:90976668A>G	uc003yej.1	-	8	1074	c.964T>C	c.(964-966)TAC>CAC	p.Y322H	NBN_uc003yei.1_Missense_Mutation_p.Y240H|NBN_uc011lgb.1_Missense_Mutation_p.Y322H	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	322					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GGATCACAGTAATTCTTTGTA	0.328								Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome				G	90976668	A	G	90976668	3	3	19	1	0	0	0	0	1	0	0	0	10191	362	13	3	1336	3	NBN	8	90976668	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2090944	90976668	55387354	1446	15745											
DECR1	1666	broad.mit.edu	37	chr8	91054988	91054988	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaatggggtaaatatggaaTgcgattcaatgtgattcaac	11	4	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:91054988T>C	uc003yek.1	+	7	839	c.698T>C	c.(697-699)ATG>ACG	p.M233T	DECR1_uc011lgc.1_Missense_Mutation_p.M224T|DECR1_uc011lgd.1_RNA	NM_001359	NP_001350	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1 precursor	233					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)			AAATATGGAATGCGATTCAAT	0.308													C	91054988	T	C	91054988	3	2	19	1	0	0	0	0	1	0	0	0	4382	1464	51	3	724	3	DECR1	8	91054988	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	78320	91054988	55309034	1447	15746											
SLC26A7	115111	broad.mit.edu	37	chr8	92307862	92307862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaacacaagcgtgctgggCttatccgactttgaaatgca	10	9	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:92307862C>T	uc003yex.2	+	5	686	c.408C>T	c.(406-408)GGC>GGT	p.G136G	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Silent_p.G136G|SLC26A7_uc003yfa.2_Silent_p.G136G	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	136	Extracellular (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GCGTGCTGGGCTTATCCGACT	0.478													T	92307862	C	T	92307862	2	4	19	1	0	0	0	0	0	0	0	1	14522	784	28	2		2	SLC26A7	8	92307862	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1252874	92307862	54056160	1448	15747											
SLC26A7	115111	broad.mit.edu	37	chr8	92406218	92406218	+	Frame_Shift_Del	DEL	T	T	-													cctagactcagagaaaccaaTtttttttgaatcggtatctg					rs149495064		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:92406217_92406217AT>A	uc003yez.3	+	17	2124	c.1885_1885AT>A	c.(1885-1887)attfs	p.I629fs	SLC26A7_uc003yex.3_Frame_Shift_Del_p.I629fs|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Frame_Shift_Del_p.I629fs	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	629	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGAGAAACCAATTTTTTTTGA	0.338													-	92406218	T	-	92406218	7	5	19	1	0	1	0	1	0	0	0	0	14522	1493	52	0	1952	0	SLC26A7	8	92406218	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	98356	92406218	53957804	1449	15748											
RBM12B	389677	broad.mit.edu	37	chr8	94746312	94746312	+	Frame_Shift_Del	DEL	G	G	-													gcggtctccggaagtgctccGggggcgggcgcctgaaatgc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:94746311_94746311CG>C	uc022aye.1	-	0	2328	c.2328_2328CG>G	c.(2326-2328)ccgfs	p.P776fs	RBM12B_uc003yfz.3_Frame_Shift_Del_p.P776fs	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	776							RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGAAGTGCTCCGGGGGCGGGC	0.662													-	94746312	G	-	94746312	7	5	19	1	0	1	0	1	0	0	0	0	13114	1116	39	0	682	0	RBM12B	8	94746312	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	2340094	94746312	51617710	1450	15749											
RBM12B	389677	broad.mit.edu	37	chr8	94748049	94748049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaagcaaattttactatgGcatcaccattatttcggcca	6	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:94748049G>A	uc003yfz.2	-	3	783	c.590C>T	c.(589-591)GCC>GTC	p.A197V		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	197	RRM 1.						nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTTTACTATGGCATCACCATT	0.353													A	94748049	G	A	94748049	3	1	19	1	0	0	0	0	1	0	0	0	13114	1203	42	2	2419	2	RBM12B	8	94748049	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1737	94748049	51615973	1451	15750											
CDH17	1015	broad.mit.edu	37	chr8	95178128	95178128	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttgggagtttgctccacAatcctgtagtttagaaaact	9	7	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:95178128A>G	uc003ygh.2	-	10	1268	c.1143T>C	c.(1141-1143)ATT>ATC	p.I381I	CDH17_uc011lgo.1_Silent_p.I167I|CDH17_uc011lgp.1_Silent_p.I381I	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	381	Extracellular (Potential).|Cadherin 4.					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTTGCTCCACAATCCTGTAGT	0.418													G	95178128	A	G	95178128	2	3	19	1	0	0	0	0	0	0	0	1	3102	126	5	3		3	CDH17	8	95178128	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	430079	95178128	51185894	1452	15751											
KIAA1429	25962	broad.mit.edu	37	chr8	95556148	95556148	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaccacacatggaaaacgaAccacatctatatgagaactt	5	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:95556148A>G	uc003ygo.1	-	2	99	c.86T>C	c.(85-87)GTT>GCT	p.V29A	KIAA1429_uc003ygp.2_Missense_Mutation_p.V29A	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	29					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TGGAAAACGAACCACATCTAT	0.408													G	95556148	A	G	95556148	3	3	19	1	0	0	0	0	1	0	0	0	8231	43	2	3	5498	3	KIAA1429	8	95556148	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	378020	95556148	50807874	1453	15752											
DPY19L4	286148	broad.mit.edu	37	chr8	95782684	95782684	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattttctttttgtagtggtAagtccctgaaggaaactgtt	9	6	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:95782684A>G	uc003ygx.2	+	13	1463	c.1339A>G	c.(1339-1341)AAG>GAG	p.K447E		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	dpy-19-like 4	447						integral to membrane				ovary(2)	2	Breast(36;3.85e-06)					TTGTAGTGGTAAGTCCCTGAA	0.294													G	95782684	A	G	95782684	3	3	19	1	0	0	0	0	1	0	0	0	4743	363	13	3	1389	3	DPY19L4	8	95782684	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	226536	95782684	50581338	1454	15753											
INTS8	55656	broad.mit.edu	37	chr8	95862296	95862296	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatctgtgcattaaacctgTaacttcattttatgatatcc	4	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:95862296T>C	uc003yhb.2	+	12	1610	c.1484T>C	c.(1483-1485)GTA>GCA	p.V495A	INTS8_uc003yha.1_Missense_Mutation_p.V495A|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.V322A	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	495					snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					ATTAAACCTGTAACTTCATTT	0.373													C	95862296	T	C	95862296	3	2	19	1	0	0	0	0	1	0	0	0	7784	1638	57	3	1530	3	INTS8	8	95862296	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	79612	95862296	50501726	1455	15754											
INTS8	55656	broad.mit.edu	37	chr8	95869047	95869047	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttgctgcttgtttggagTtggtaacagagttctcaccg	11	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:95869047T>C	uc003yhb.2	+	15	1921	c.1795T>C	c.(1795-1797)TTG>CTG	p.L599L	INTS8_uc003yha.1_Silent_p.L599L|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Silent_p.L426L	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	599	TPR 3.				snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					TTGTTTGGAGTTGGTAACAGA	0.458													C	95869047	T	C	95869047	2	2	19	1	0	0	0	0	0	0	0	1	7784	1722	60	3		3	INTS8	8	95869047	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	6751	95869047	50494975	1456	15755											
INTS8	55656	broad.mit.edu	37	chr8	95892454	95892454	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaagcaatggcaaaacttTacttttaagcagttaaattt	5	7	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:95892454T>C	uc003yhb.2	+	27	3106	c.2980T>C	c.(2980-2982)TAC>CAC	p.Y994H	INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.Y804H	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	994					snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					GGCAAAACTTTACTTTTAAGC	0.313													C	95892454	T	C	95892454	3	2	19	1	0	0	0	0	1	0	0	0	7784	1754	61	3	3086	3	INTS8	8	95892454	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	23407	95892454	50471568	1457	15756											
MATN2	4147	broad.mit.edu	37	chr8	98900443	98900443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctctaggggcagacacgctCggacccacccgcagacggcc	12	17	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:98900443C>T	uc003yic.2	+	2	346	c.115C>T	c.(115-117)CGG>TGG	p.R39W	MATN2_uc003yib.1_Missense_Mutation_p.R39W|MATN2_uc010mbh.1_Missense_Mutation_p.R39W|MATN2_uc003yid.2_Missense_Mutation_p.R39W|MATN2_uc003yie.1_Missense_Mutation_p.R39W	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	39						proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CAGACACGCTCGGACCCACCC	0.662													T	98900443	C	T	98900443	3	4	19	1	0	0	0	0	1	0	0	0	9334	875	31	1	117	1	MATN2	8	98900443	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3007989	98900443	47463579	1458	15757											
MATN2	4147	broad.mit.edu	37	chr8	99019731	99019731	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggattactgcctgctgagtgAccatggttgtgaatactcct	11	9	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:99019731A>G	uc003yic.2	+	10	1706	c.1475A>G	c.(1474-1476)GAC>GGC	p.D492G	MATN2_uc010mbh.1_Missense_Mutation_p.D451G|MATN2_uc003yid.2_Missense_Mutation_p.D492G|MATN2_uc003yie.1_Missense_Mutation_p.D492G|MATN2_uc010mbi.1_Missense_Mutation_p.D325G|MATN2_uc010mbj.1_5'UTR	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	492	EGF-like 7.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CTGCTGAGTGACCATGGTTGT	0.532													G	99019731	A	G	99019731	3	3	19	1	0	0	0	0	1	0	0	0	9334	275	10	3	1509	3	MATN2	8	99019731	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	119288	99019731	47344291	1459	15758											
HRSP12	10247	broad.mit.edu	37	chr8	99118537	99118537	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagctttcagaatttcAcccatgtttttaagagcctg	7	11	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:99118537A>G	uc003yii.1	-	3	283	c.189T>C	c.(187-189)GGT>GGC	p.G63G		NM_005836	NP_005827	P52758	UK114_HUMAN	heat-responsive protein 12	63					regulation of translational termination	nucleus	endonuclease activity			ovary(1)	1	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			TCAGAATTTCACCCATGTTTT	0.313													G	99118537	A	G	99118537	2	3	19	1	0	0	0	0	0	0	0	1	7360	146	6	3		3	HRSP12	8	99118537	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	98806	99118537	47245485	1460	15759											
RGS22	26166	broad.mit.edu	37	chr8	101018269	101018270	+	Frame_Shift_Del	DEL	TT	TT	-													gctttcttggaaaatgtctcTttatgcaaagcctgtagctt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:101018268_101018269CTT>C	uc003yjb.1	-	15	2625_2626	c.2430_2431AAG>G	c.(2428-2433)aaagagfs	p.K810fs	RGS22_uc003yja.1_Frame_Shift_Del_p.K629fs|RGS22_uc003yjc.1_Frame_Shift_Del_p.K798fs|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Frame_Shift_Del_p.K199fs	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	810					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.E811D(1)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GAAAATGTCTCTTTATGCAAAG	0.396													-	101018270	TT	-	101018269	7	5	19	1	0	1	0	1	0	0	0	0	13305	1606	56	0	1412	0	RGS22	8	101018269	Frame_Shift_Del	DEL	TT	TCGA-BR-4361-01A-01D-1158-08	1899732	101018269	45345753	1461	15760											
GRHL2	79977	broad.mit.edu	37	chr8	102570748	102570748	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaacctttccctaaatcaagAtcacctggagaattccaagc	6	12	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:102570748A>T	uc010mbu.2	+	4	716	c.386A>T	c.(385-387)GAT>GTT	p.D129V	GRHL2_uc011lhi.1_Missense_Mutation_p.D129V	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	transcription factor CP2-like 3	129						cytoplasm|nucleus	DNA binding			ovary(2)|skin(1)	3	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CTAAATCAAGATCACCTGGAG	0.507													T	102570748	A	T	102570748	3	4	19	1	0	0	0	0	1	0	0	0	6764	333	12	5	400	5	GRHL2	8	102570748	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1552479	102570748	43793274	1462	15761											
NCALD	83988	broad.mit.edu	37	chr8	102731641	102731641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtcccatctccatttgcatCgaaggtgcggaagacatgct	10	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:102731641C>T	uc003yke.2	-	2	586	c.217G>A	c.(217-219)GAT>AAT	p.D73N	NCALD_uc003ykf.2_Missense_Mutation_p.D73N|NCALD_uc003ykg.2_Missense_Mutation_p.D73N|NCALD_uc003ykh.2_Missense_Mutation_p.D73N|NCALD_uc003yki.2_Missense_Mutation_p.D73N|NCALD_uc003ykj.2_Missense_Mutation_p.D73N|NCALD_uc003ykk.2_Missense_Mutation_p.D73N|NCALD_uc003ykl.2_Missense_Mutation_p.D73N	NM_032041	NP_114430	P61601	NCALD_HUMAN	neurocalcin delta	73	EF-hand 2.|1 (Potential).				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding				0	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			CCATTTGCATCGAAGGTGCGG	0.443													T	102731641	C	T	102731641	3	4	19	1	0	0	0	0	1	0	0	0	10201	884	31	1	376	1	NCALD	8	102731641	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	160893	102731641	43632381	1463	15762											
UBR5	51366	broad.mit.edu	37	chr8	103287984	103287984	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaataccctgccgaacagTtctaaagaaaggcgccaacg	9	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:103287984T>C	uc003ykr.1	-	46	6615	c.6582A>G	c.(6580-6582)GAA>GAG	p.E2194E	UBR5_uc003yks.1_Silent_p.E2194E	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	2194					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGCCGAACAGTTCTAAAGAAA	0.443													C	103287984	T	C	103287984	2	2	19	1	0	0	0	0	0	0	0	1	16902	1722	60	3		3	UBR5	8	103287984	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	556343	103287984	43076038	1464	15763											
UBR5	51366	broad.mit.edu	37	chr8	103323552	103323552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccatgatgataacagcaGctttctttttgattgttgaa	8	7	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:103323552G>A	uc003ykr.1	-	20	2624	c.2591C>T	c.(2590-2592)GCT>GTT	p.A864V	UBR5_uc003yks.1_Missense_Mutation_p.A864V	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	864					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GATAACAGCAGCTTTCTTTTT	0.373													A	103323552	G	A	103323552	3	1	19	1	0	0	0	0	1	0	0	0	16902	971	34	2	5968	2	UBR5	8	103323552	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	35568	103323552	43040470	1465	15764											
UBR5	51366	broad.mit.edu	37	chr8	103324440	103324440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggagtcctttggaaacagtCgggaaccttcggtgttccac	12	10	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:103324440C>T	uc003ykr.1	-	18	2218	c.2185G>A	c.(2185-2187)GAC>AAC	p.D729N	UBR5_uc003yks.1_Missense_Mutation_p.D729N	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	729					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGGAAACAGTCGGGAACCTTC	0.368													T	103324440	C	T	103324440	3	4	19	1	0	0	0	0	1	0	0	0	16902	884	31	1	6382	1	UBR5	8	103324440	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	888	103324440	43039582	1466	15765											
KLF10	7071	broad.mit.edu	37	chr8	103664435	103664435	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caggtgttcccggaagcagaTtctcttcctctgacaaatca	8	12	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:103664435T>A	uc011lhk.1	-	2	381	c.227A>T	c.(226-228)AAT>ATT	p.N76I	KLF10_uc011lhj.1_Missense_Mutation_p.N65I	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Kruppel-like factor 10 isoform a	76					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			CGGAAGCAGATTCTCTTCCTC	0.323											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	103664435	T	A	103664435	3	1	19	1	0	0	0	0	1	0	0	0	8338	1493	52	5	1227	5	KLF10	8	103664435	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	339995	103664435	42699587	1467	15766											
FZD6	8323	broad.mit.edu	37	chr8	104337709	104337709	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcattgtcgtcagtaccatAtcccatgtccttatcaggta	6	11	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:104337709A>G	uc003ylh.2	+	4	1659	c.1375A>G	c.(1375-1377)ATC>GTC	p.I459V	FZD6_uc003yli.2_Missense_Mutation_p.I459V|FZD6_uc003ylj.2_Missense_Mutation_p.I459V|FZD6_uc011lhn.1_Missense_Mutation_p.I425V|FZD6_uc011lho.1_Missense_Mutation_p.I154V|FZD6_uc011lhp.1_Missense_Mutation_p.I404V	NM_003506	NP_003497	O60353	FZD6_HUMAN	frizzled 6 isoform a precursor	459	Extracellular (Potential).				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TCAGTACCATATCCCATGTCC	0.378													G	104337709	A	G	104337709	3	3	19	1	0	0	0	0	1	0	0	0	6134	449	16	3	1385	3	FZD6	8	104337709	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	673274	104337709	42026313	1468	15767											
LRP12	29967	broad.mit.edu	37	chr8	105509440	105509440	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggttggcaaaaaaagcagTttttttcatctgagccattt	8	7	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:105509440T>G	uc003yma.2	-	5	1435	c.1340A>C	c.(1339-1341)AAC>ACC	p.N447T	LRP12_uc003ymb.2_Missense_Mutation_p.N428T|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	447	Extracellular (Potential).|LDL-receptor class A 4.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAAAAAGCAGTTTTTTTCATC	0.418													G	105509440	T	G	105509440	3	3	19	1	0	0	0	0	1	0	0	0	8954	1725	60	5	1251	5	LRP12	8	105509440	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1171731	105509440	40854582	1469	15768											
OXR1	55074	broad.mit.edu	37	chr8	107695466	107695466	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaatagcatagccctgaagTttgatacaacacctaacgaa	7	9	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:107695466T>C	uc011lht.1	+	4	445	c.346T>C	c.(346-348)TTT>CTT	p.F116L	OXR1_uc003ymf.2_Missense_Mutation_p.F115L|OXR1_uc011lhu.1_Missense_Mutation_p.F108L|OXR1_uc010mcg.2_Intron|OXR1_uc003ymg.1_Missense_Mutation_p.F48L|OXR1_uc003ymi.1_Missense_Mutation_p.F27L	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	116	LysM.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AGCCCTGAAGTTTGATACAAC	0.289													C	107695466	T	C	107695466	3	2	19	1	0	0	0	0	1	0	0	0	11334	1725	60	3	560	3	OXR1	8	107695466	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2186026	107695466	38668556	1470	15769											
OXR1	55074	broad.mit.edu	37	chr8	107719150	107719150	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagagagtcaaaaagaaaaTatgccttgtggggaaacagc	12	5	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:107719150T>A	uc011lht.1	+	8	1503	c.1404T>A	c.(1402-1404)AAT>AAA	p.N468K	OXR1_uc003ymf.2_Missense_Mutation_p.N467K|OXR1_uc011lhu.1_Missense_Mutation_p.N460K|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_Missense_Mutation_p.N165K|OXR1_uc003ymg.1_Missense_Mutation_p.N400K|OXR1_uc003ymi.1_Missense_Mutation_p.N379K	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	468					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAAAGAAAATATGCCTTGTG	0.383													A	107719150	T	A	107719150	3	1	19	1	0	0	0	0	1	0	0	0	11334	1403	49	5	1634	5	OXR1	8	107719150	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	23684	107719150	38644872	1471	15770											
ABRA	137735	broad.mit.edu	37	chr8	107773721	107773721	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgggctttgcagttgagTttctctgtaaatctgtttac	10	6	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:107773721T>C	uc003ymm.3	-	2	744	c.690A>G	c.(688-690)AAA>AAG	p.K230K		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	230					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TGCAGTTGAGTTTCTCTGTAA	0.438													C	107773721	T	C	107773721	2	2	19	1	0	0	0	0	0	0	0	1	100	1722	60	3		3	ABRA	8	107773721	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	54571	107773721	38590301	1472	15771											
RSPO2	340419	broad.mit.edu	37	chr8	109001323	109001323	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggctcggtgtccatagtAcccggatgggcaggaatgca	16	9	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:109001323A>G	uc003yms.2	-	3	902	c.244T>C	c.(244-246)TAC>CAC	p.Y82H	RSPO2_uc003ymq.2_Missense_Mutation_p.Y15H|RSPO2_uc003ymr.2_Intron	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	R-spondin family, member 2 precursor	82					Wnt receptor signaling pathway	extracellular region	heparin binding			skin(3)|ovary(2)|pancreas(1)|lung(1)	7			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TGTCCATAGTACCCGGATGGG	0.493													G	109001323	A	G	109001323	3	3	19	1	0	0	0	0	1	0	0	0	13710	391	14	3	503	3	RSPO2	8	109001323	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1227602	109001323	37362699	1473	15772											
ENY2	56943	broad.mit.edu	37	chr8	110348433	110348433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaactggagaaagagaacGgtaagtaatagattgtgtta	12	2	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:110348433G>A	uc003ynd.2	+	2	145	c.83G>A	c.(82-84)CGC>CAC	p.R28H	NUDCD1_uc003ynb.3_5'Flank|NUDCD1_uc010mcl.2_5'Flank|ENY2_uc003ync.2_Missense_Mutation_p.R23H	NM_020189	NP_064574	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog	28					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity				0	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			GAAAGAGAACGGTAAGTAATA	0.348													A	110348433	G	A	110348433	3	1	19	1	0	0	0	0	1	0	0	0	5146	1130	39	1	89	1	ENY2	8	110348433	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1347110	110348433	36015589	1474	15773											
PKHD1L1	93035	broad.mit.edu	37	chr8	110394751	110394751	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacggggttcctgttacggAaaataacacctgcaaaggtc	12	9	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:110394751A>G	uc003yne.2	+	4	472	c.368A>G	c.(367-369)GAA>GGA	p.E123G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	123	Extracellular (Potential).|IPT/TIG 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTGTTACGGAAAATAACACC	0.398										HNSCC(38;0.096)			G	110394751	A	G	110394751	3	3	19	1	0	0	0	0	1	0	0	0	11972	246	9	3	382	3	PKHD1L1	8	110394751	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	46318	110394751	35969271	1475	15774											
CSMD3	114788	broad.mit.edu	37	chr8	113237026	113237026	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgtgcaaaccgtgttcaAgttgggatcaaatcgtaccg	10	9	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:113237026A>G	uc003ynu.2	-	71	11257	c.11098T>C	c.(11098-11100)TTG>CTG	p.L3700L	CSMD3_uc003yns.2_Silent_p.L2902L|CSMD3_uc003ynt.2_Silent_p.L3660L|CSMD3_uc011lhx.1_Silent_p.L3531L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3700	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ACCGTGTTCAAGTTGGGATCA	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113237026	A	G	113237026	2	3	19	1	0	0	0	0	0	0	0	1	3946	69	3	3		3	CSMD3	8	113237026	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2842275	113237026	33126996	1476	15775											
CSMD3	114788	broad.mit.edu	37	chr8	113237134	113237134	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attttcatgaactgaacatcCtgtatactgtgttttaggtg	8	6	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:113237134C>A	uc003ynu.2	-	71	11149	c.10990G>T	c.(10990-10992)GGA>TGA	p.G3664*	CSMD3_uc003yns.2_Nonsense_Mutation_p.G2866*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.G3624*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.G3495*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3664	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ACTGAACATCCTGTATACTGT	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113237134	C	A	113237134	4	1	19	1	0	0	0	0	0	1	0	0	3946	690	24	5	137	5	CSMD3	8	113237134	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	108	113237134	33126888	1477	15776											
CSMD3	114788	broad.mit.edu	37	chr8	113259321	113259321	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttgtagacccttggagaaGgtgtccttttttgcaatgga	12	6	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:113259321G>T	uc003ynu.2	-	64	10309	c.10150C>A	c.(10150-10152)CTT>ATT	p.L3384I	CSMD3_uc003yns.2_Missense_Mutation_p.L2586I|CSMD3_uc003ynt.2_Missense_Mutation_p.L3344I|CSMD3_uc011lhx.1_Missense_Mutation_p.L3215I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3384	Extracellular (Potential).|Sushi 27.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCTTGGAGAAGGTGTCCTTTT	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113259321	G	T	113259321	3	4	19	1	0	0	0	0	1	0	0	0	3946	1000	35	5	1005	5	CSMD3	8	113259321	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	22187	113259321	33104701	1478	15777											
CSMD3	114788	broad.mit.edu	37	chr8	114111072	114111072	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaatatgagtgaaattgtgTccccaggctctgctacaatg	9	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:114111072T>C	uc003ynu.2	-	5	989	c.830A>G	c.(829-831)GAC>GGC	p.D277G	CSMD3_uc003ynt.2_Missense_Mutation_p.D237G|CSMD3_uc011lhx.1_Missense_Mutation_p.D277G|CSMD3_uc010mcx.1_Missense_Mutation_p.D277G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	277	Extracellular (Potential).|CUB 2.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TGAAATTGTGTCCCCAGGCTC	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	114111072	T	C	114111072	3	2	19	1	0	0	0	0	1	0	0	0	3946	1667	58	3	10561	3	CSMD3	8	114111072	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	851751	114111072	32252950	1479	15778											
MED30	90390	broad.mit.edu	37	chr8	118541046	118541046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggatggatcccattccagtcGaggtaattttttgtgataga	11	6	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:118541046G>A	uc003yoj.2	+	2	485	c.334G>A	c.(334-336)GAG>AAG	p.E112K	MED30_uc011lib.1_Missense_Mutation_p.E112K	NM_080651	NP_542382	Q96HR3	MED30_HUMAN	TRAP/Mediator complex component TRAP25	112					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding				0	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			CATTCCAGTCGAGGTAATTTT	0.388													A	118541046	G	A	118541046	3	1	19	1	0	0	0	0	1	0	0	0	9448	1059	37	1	340	1	MED30	8	118541046	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	4429974	118541046	27822976	1480	15779											
ENPP2	5168	broad.mit.edu	37	chr8	120596200	120596200	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcacagttctgccatcatAcctgcatgctgttgaccttg	7	12	3	1	rs140502806		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:120596200A>G	uc003yot.1	-	16	1541	c.1455_splice	c.e16+1	p.Q485_splice	ENPP2_uc011lic.1_Intron|ENPP2_uc003yor.1_Splice_Site_p.Q124_splice|ENPP2_uc003yos.1_Splice_Site_p.Q537_splice|ENPP2_uc010mdd.1_Splice_Site_p.Q485_splice	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	autotaxin isoform 2 preproprotein						cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTGCCATCATACCTGCATGCT	0.373													G	120596200	A	G	120596200	5	3	19	1	0	0	0	0	0	0	1	0	5130	405	14	3	1253	3	ENPP2	8	120596200	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2055154	120596200	25767822	1481	15780											
TAF2	6873	broad.mit.edu	37	chr8	120793304	120793304	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactgtaccttctgtagaaAatagctttgaaagctcataa	6	7	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:120793304A>G	uc003you.2	-	17	2512	c.2242T>C	c.(2242-2244)TTT>CTT	p.F748L		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	748					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTCTGTAGAAAATAGCTTTGA	0.318													G	120793304	A	G	120793304	3	3	19	1	0	0	0	0	1	0	0	0	15521	14	1	3	1397	3	TAF2	8	120793304	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	197104	120793304	25570718	1482	15781											
TAF2	6873	broad.mit.edu	37	chr8	120803702	120803702	+	Splice_Site	DEL	A	A	-													tgtagatgggaagccggactAaaaaaaataaacacatttac							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:120803701_120803701TA>T	uc003you.3	-	11	1548	c.1278_splice	c.e11-1	p.N426_splice		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	426					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GAAGCCGGACTAAAAAAAATA	0.343													-	120803702	A	-	120803702	8	5	19	1	0	1	0	1	0	0	1	0	15521	377	13	0		0	TAF2	8	120803702	Splice_Site	DEL	A	TCGA-BR-4361-01A-01D-1158-08	10398	120803702	25560320	1483	15782											
DEPDC6	64798	broad.mit.edu	37	chr8	120940664	120940664	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggctgcacgaagaaaaggtTattaaagatagacgtcatca	10	6	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:120940664T>C	uc003yow.3	+	2	334	c.147T>C	c.(145-147)GTT>GTC	p.V49V	DEPDC6_uc011lid.1_Intron	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	DEP domain containing 6	49	DEP 1.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding				0	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AAGAAAAGGTTATTAAAGATA	0.383													C	120940664	T	C	120940664	2	2	19	1	0	0	0	0	0	0	0	1	4443	1741	61	3		3	DEPDC6	8	120940664	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	136962	120940664	25423358	1484	15783											
DEPDC6	64798	broad.mit.edu	37	chr8	120940800	120940800	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatgcagaaattagcagacCggggcattattcaccatggt	10	9	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:120940800C>A	uc003yow.3	+	2	470	c.283C>A	c.(283-285)CGG>AGG	p.R95R	DEPDC6_uc011lid.1_Intron	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	DEP domain containing 6	95	DEP 1.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding				0	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATTAGCAGACCGGGGCATTAT	0.433													A	120940800	C	A	120940800	2	1	19	1	0	0	0	0	0	0	0	1	4443	643	23	5		5	DEPDC6	8	120940800	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	136	120940800	25423222	1485	15784											
COL14A1	7373	broad.mit.edu	37	chr8	121256232	121256232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaaggcgtcagcgtctccGctcctggaaaaacctgtaag	12	12	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:121256232G>A	uc003yox.2	+	20	2729	c.2464G>A	c.(2464-2466)GCT>ACT	p.A822T	COL14A1_uc003yoy.2_Missense_Mutation_p.A500T	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	822	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGCGTCTCCGCTCCTGGAAA	0.463													A	121256232	G	A	121256232	3	1	19	1	0	0	0	0	1	0	0	0	3671	1087	38	1	2538	1	COL14A1	8	121256232	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	315432	121256232	25107790	1486	15785											
HAS2	3037	broad.mit.edu	37	chr8	122626645	122626645	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agctttgtttattgttgcaaTtgcaaacatcttggcgggaa	10	6	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:122626645T>A	uc003yph.2	-	4	1901	c.1363A>T	c.(1363-1365)ATT>TTT	p.I455F		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	455	Extracellular (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			ATTGTTGCAATTGCAAACATC	0.408													A	122626645	T	A	122626645	3	1	19	1	0	0	0	0	1	0	0	0	6962	1493	52	5	299	5	HAS2	8	122626645	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1370413	122626645	23737377	1487	15786											
ZHX2	22882	broad.mit.edu	37	chr8	123964414	123964414	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccgcctggtgacagacAcagctgagatcctctcgaga	11	15	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:123964414A>G	uc003ypk.1	+	3	1231	c.664A>G	c.(664-666)ACA>GCA	p.T222A		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	222	Required for homodimerization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GGTGACAGACACAGCTGAGAT	0.577													G	123964414	A	G	123964414	3	3	19	1	0	0	0	0	1	0	0	0	17673	159	6	3	666	3	ZHX2	8	123964414	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1337769	123964414	22399608	1488	15787											
FAM83A	84985	broad.mit.edu	37	chr8	124195493	124195493	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccctacctgaaggaaaaaTccagcgccactgtgtacttc	8	13	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:124195493T>C	uc003ypv.2	+	2	2411	c.397T>C	c.(397-399)TCC>CCC	p.S133P	FAM83A_uc003ypw.2_Missense_Mutation_p.S133P|FAM83A_uc003ypy.2_Missense_Mutation_p.S133P|FAM83A_uc003ypx.2_Missense_Mutation_p.S133P|FAM83A_uc003ypz.2_Missense_Mutation_p.S133P	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	hypothetical protein LOC84985 isoform a	133										ovary(3)|skin(1)	4	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GAAGGAAAAATCCAGCGCCAC	0.607													C	124195493	T	C	124195493	3	2	19	1	0	0	0	0	1	0	0	0	5633	1435	50	3	399	3	FAM83A	8	124195493	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	231079	124195493	22168529	1489	15788											
FBXO32	114907	broad.mit.edu	37	chr8	124516885	124516885	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttgcagagctgaagggTatctccatactgctctttcc	10	10	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:124516885T>C	uc003yqr.2	-	8	1129	c.937A>G	c.(937-939)ACC>GCC	p.T313A	FBXO32_uc003yqq.2_Missense_Mutation_p.T168A|FBXO32_uc010mdk.2_Missense_Mutation_p.T220A	NM_058229	NP_478136	Q969P5	FBX32_HUMAN	F-box only protein 32 isoform 1	313										skin(3)|breast(2)|lung(1)	6	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AGCTGAAGGGTATCTCCATAC	0.498													C	124516885	T	C	124516885	3	2	19	1	0	0	0	0	1	0	0	0	5742	1638	57	3	138	3	FBXO32	8	124516885	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	321392	124516885	21847137	1490	15789											
KIAA0196	9897	broad.mit.edu	37	chr8	126095397	126095397	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgtacactttgaaatgctAaataaaatctggtcacaatt	5	6	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:126095397A>G	uc003yrt.2	-	3	619	c.290T>C	c.(289-291)TTA>TCA	p.L97S	KIAA0196_uc011lir.1_Intron	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	97					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTGAAATGCTAAATAAAATCT	0.333													G	126095397	A	G	126095397	3	3	19	1	0	0	0	0	1	0	0	0	8161	372	13	3	3297	3	KIAA0196	8	126095397	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1578512	126095397	20268625	1491	15790											
GSDMC	56169	broad.mit.edu	37	chr8	130763802	130763802	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttactttgccagaagggtTcctctattcttcctagaagg	8	10	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:130763802T>A	uc003ysr.2	-	10	1811	c.929A>T	c.(928-930)GAA>GTA	p.E310V		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	melanoma-derived leucine zipper, extra-nuclear	310						mitochondrion				ovary(2)|skin(1)	3						CCAGAAGGGTTCCTCTATTCT	0.473													A	130763802	T	A	130763802	3	1	19	1	0	0	0	0	1	0	0	0	6818	1783	62	5	617	5	GSDMC	8	130763802	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	4668405	130763802	15600220	1492	15791											
ADCY8	114	broad.mit.edu	37	chr8	131848574	131848574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagaggcctgcgtagacgGtctcagtgagcagggcatag	16	8	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:131848574G>A	uc003ytd.3	-	12	2880	c.2624C>T	c.(2623-2625)ACC>ATC	p.T875I	ADCY8_uc010mds.2_Missense_Mutation_p.T744I	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	875	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGCGTAGACGGTCTCAGTGAG	0.547										HNSCC(32;0.087)			A	131848574	G	A	131848574	3	1	19	1	0	0	0	0	1	0	0	0	300	1261	44	4	1159	4	ADCY8	8	131848574	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1084772	131848574	14515448	1493	15792											
TG	7038	broad.mit.edu	37	chr8	133894176	133894176	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtatctgggtattgccActgtgctgacagccaagggc	14	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:133894176A>G	uc003ytw.2	+	6	748	c.707A>G	c.(706-708)CAC>CGC	p.H236R		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	236	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGGTATTGCCACTGTGCTGAC	0.517													G	133894176	A	G	133894176	3	3	19	1	0	0	0	0	1	0	0	0	15810	159	6	3	729	3	TG	8	133894176	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2045602	133894176	12469846	1494	15793											
TG	7038	broad.mit.edu	37	chr8	133906034	133906034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttctcggttccctctggGggagagtttcctggtggcca	14	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:133906034G>A	uc003ytw.2	+	11	2902	c.2861G>A	c.(2860-2862)GGG>GAG	p.G954E		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	954	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTCCCTCTGGGGGAGAGTTTC	0.582													A	133906034	G	A	133906034	3	1	19	1	0	0	0	0	1	0	0	0	15810	1232	43	4	2903	4	TG	8	133906034	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	11858	133906034	12457988	1495	15794											
ZFAT	57623	broad.mit.edu	37	chr8	135612914	135612914	+	Splice_Site	DEL	A	A	-													ggtaccaaaaaagtttgcctAaaaaaatattttcacatgag					rs35184160		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:135612913_135612913TA>T	uc003yup.3	-	7	2429	c.2243_splice	c.e7-1	p.G748_splice	ZFAT_uc003yun.3_Splice_Site_p.G736_splice|ZFAT_uc003yuo.3_Splice_Site_p.G736_splice|ZFAT_uc010meh.3_Splice_Site_p.G736_splice|ZFAT_uc010mej.3_Splice_Site_p.G686_splice|ZFAT_uc010mei.3_Splice_Site|ZFAT_uc003yuq.3_Splice_Site_p.G736_splice|ZFAT_uc003yur.3_Intron|ZFAT-AS1_uc003yus.1_Non-coding_Transcript	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	748					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AAAGTTTGCCTAAAAAAATAT	0.318													-	135612914	A	-	135612914	8	5	19	1	0	1	0	1	0	0	1	0	17629	377	13	0		0	ZFAT	8	135612914	Splice_Site	DEL	A	TCGA-BR-4361-01A-01D-1158-08	1706880	135612914	10751108	1496	15795											
ZFAT	57623	broad.mit.edu	37	chr8	135614731	135614731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcgttcttgaacttgcGctcacagatgtggcagtcat	10	11	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:135614731G>A	uc003yup.2	-	6	1406	c.1231C>T	c.(1231-1233)CGC>TGC	p.R411C	ZFAT_uc003yun.2_Missense_Mutation_p.R399C|ZFAT_uc003yuo.2_Missense_Mutation_p.R399C|ZFAT_uc010meh.2_Missense_Mutation_p.R399C|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.R399C|ZFAT_uc010mej.2_Missense_Mutation_p.R349C|ZFAT_uc003yur.2_Missense_Mutation_p.R399C	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	411	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTGAACTTGCGCTCACAGATG	0.582													A	135614731	G	A	135614731	3	1	19	1	0	0	0	0	1	0	0	0	17629	1087	38	1	2544	1	ZFAT	8	135614731	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1817	135614731	10749291	1497	15796											
ZFAT	57623	broad.mit.edu	37	chr8	135622749	135622749	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttaaaaccacacttaTgatgggtttcttcgccccag	8	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:135622749T>C	uc003yup.2	-	4	773	c.598A>G	c.(598-600)ATA>GTA	p.I200V	ZFAT_uc003yun.2_Missense_Mutation_p.I188V|ZFAT_uc003yuo.2_Missense_Mutation_p.I188V|ZFAT_uc010meh.2_Missense_Mutation_p.I188V|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.I188V|ZFAT_uc010mej.2_Intron|ZFAT_uc003yur.2_Missense_Mutation_p.I188V	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ACCACACTTATGATGGGTTTC	0.507													C	135622749	T	C	135622749	3	2	19	1	0	0	0	0	1	0	0	0	17629	1464	51	3	3185	3	ZFAT	8	135622749	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	8018	135622749	10741273	1498	15797											
FAM135B	51059	broad.mit.edu	37	chr8	139153525	139153525	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtggagtttgttgaggtAataccggaaccggggccgtg	17	7	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:139153525A>G	uc003yuy.2	-	17	3877	c.3706T>C	c.(3706-3708)TAC>CAC	p.Y1236H	FAM135B_uc003yux.2_Missense_Mutation_p.Y1137H|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1236										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTGTTGAGGTAATACCGGAAC	0.522										HNSCC(54;0.14)			G	139153525	A	G	139153525	3	3	19	1	0	0	0	0	1	0	0	0	5449	362	13	3	530	3	FAM135B	8	139153525	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3530776	139153525	7210497	1499	15798											
FAM135B	51059	broad.mit.edu	37	chr8	139153555	139153555	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggggccgtgtgaggaccgAtcggatgatgatgttgccaa	16	9	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:139153555A>G	uc003yuy.2	-	17	3847	c.3676T>C	c.(3676-3678)TCG>CCG	p.S1226P	FAM135B_uc003yux.2_Missense_Mutation_p.S1127P|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1226										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTGAGGACCGATCGGATGATG	0.547										HNSCC(54;0.14)			G	139153555	A	G	139153555	3	3	19	1	0	0	0	0	1	0	0	0	5449	333	12	3	560	3	FAM135B	8	139153555	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	30	139153555	7210467	1500	15799											
SLC45A4	57210	broad.mit.edu	37	chr8	142225875	142225875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctgcttgatgtcatggtActggcccagcagggcgtacg	13	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:142225875A>G	uc003ywd.1	-	6	2079	c.1771T>C	c.(1771-1773)TAC>CAC	p.Y591H	SLC45A4_uc003ywc.1_Missense_Mutation_p.Y591H|SLC45A4_uc010meq.1_Missense_Mutation_p.Y589H	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	642					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			ATGTCATGGTACTGGCCCAGC	0.607													G	142225875	A	G	142225875	3	3	19	1	0	0	0	0	1	0	0	0	14643	391	14	3	637	3	SLC45A4	8	142225875	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3072320	142225875	4138147	1501	15800											
TSNARE1	203062	broad.mit.edu	37	chr8	143395755	143395755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcacccacctgtttactgCccctctgcgccatgggaagc	10	17	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:143395755C>T	uc003ywk.2	-	9	1239	c.1121G>A	c.(1120-1122)GGC>GAC	p.G374D	TSNARE1_uc011lju.1_Missense_Mutation_p.G373D|TSNARE1_uc003ywj.2_Missense_Mutation_p.G374D|TSNARE1_uc003ywl.3_Missense_Mutation_p.G154D	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	374					vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTGTTTACTGCCCCTCTGCGC	0.547													T	143395755	C	T	143395755	3	4	19	1	0	0	0	0	1	0	0	0	16627	739	26	2	440	2	TSNARE1	8	143395755	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1169880	143395755	2968267	1502	15801											
BAI1	575	broad.mit.edu	37	chr8	143623648	143623648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgtgatcctgcccacggcCacggccacgctgcggcccaa	11	18	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:143623648C>T	uc003ywm.2	+	27	4236	c.4053C>T	c.(4051-4053)GCC>GCT	p.A1351A		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1351	Cytoplasmic (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGCCCACGGCCACGGCCACGC	0.657													T	143623648	C	T	143623648	2	4	19	1	0	0	0	0	0	0	0	1	1298	581	21	4		4	BAI1	8	143623648	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	227893	143623648	2740374	1503	15802											
ZC3H3	23144	broad.mit.edu	37	chr8	144557662	144557662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtagaggacccctccgatGcagcggtagcctttgctccg	12	13	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:144557662G>A	uc003yyd.2	-	5	1838	c.1809C>T	c.(1807-1809)TGC>TGT	p.C603C		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	603					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CCCCTCCGATGCAGCGGTAGC	0.652													A	144557662	G	A	144557662	2	1	19	1	0	0	0	0	0	0	0	1	17566	1311	46	2		2	ZC3H3	8	144557662	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	934014	144557662	1806360	1504	15803											
FAM83H	286077	broad.mit.edu	37	chr8	144808461	144808461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccggggctcggggcagggAccgcacggtgcttctggccg	20	13	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:144808461A>G	uc003yzk.2	-	5	3239	c.3170T>C	c.(3169-3171)GTC>GCC	p.V1057A	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	1057					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CGGGGCAGGGACCGCACGGTG	0.657													G	144808461	A	G	144808461	3	3	19	1	0	0	0	0	1	0	0	0	5640	275	10	3	373	3	FAM83H	8	144808461	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	250799	144808461	1555561	1505	15804											
FAM83H	286077	broad.mit.edu	37	chr8	144810850	144810850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccagctctccttggaacaCgtgcgccaggctgcggtgga	14	13	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:144810850C>T	uc003yzk.2	-	5	850	c.781G>A	c.(781-783)GTG>ATG	p.V261M	FAM83H_uc010mfk.1_5'Flank	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	261					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCTTGGAACACGTGCGCCAGG	0.662													T	144810850	C	T	144810850	3	4	19	1	0	0	0	0	1	0	0	0	5640	536	19	1	2762	1	FAM83H	8	144810850	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2389	144810850	1553172	1506	15805											
SCRIB	23513	broad.mit.edu	37	chr8	144890900	144890902	+	In_Frame_Del	DEL	TCC	TCC	-													cctcctgaggactaccctctTcctcctcctcctcctccttc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:144890899_144890901TTCC>T	uc003yzp.1	-	14	2000_2002	c.1993_1995GGAA>A	c.(1993-1995)gaa>A	p.E666del	SCRIB_uc003yzo.1_In_Frame_Del_p.E666del	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	666	Glu-rich.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			gactaccctcttcctcctcctcc	0.665													-	144890902	TCC	-	144890900	7	5	19	1	0	1	0	1	0	0	0	0	13937	1783	62	0	3065	0	SCRIB	8	144890900	In_Frame_Del	DEL	TCC	TCGA-BR-4361-01A-01D-1158-08	80050	144890900	1473122	1507	15806											
EPPK1	83481	broad.mit.edu	37	chr8	144940491	144940491	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccggtgtaggggtcggTgtagccggtgacggcgcgct	19	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:144940491T>C	uc003zaa.1	-	2	14954	c.14941A>G	c.(14941-14943)ACC>GCC	p.T4981A		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	4981	Plectin 63.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TAGGGGTCGGTGTAGCCGGTG	0.697													C	144940491	T	C	144940491	3	2	19	1	0	0	0	0	1	0	0	0	5190	1696	59	3	335	3	EPPK1	8	144940491	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	49591	144940491	1423531	1508	15807											
EPPK1	83481	broad.mit.edu	37	chr8	144945175	144945175	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcaagttcagcatctgatcGaagtagccgcgccggtaggc	12	11	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:144945175G>A	uc003zaa.1	-	1	2260	c.2247C>T	c.(2245-2247)TTC>TTT	p.F749F		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	749	Plectin 14.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCATCTGATCGAAGTAGCCGC	0.642													A	144945175	G	A	144945175	2	1	19	1	0	0	0	0	0	0	0	1	5190	1049	37	1		1	EPPK1	8	144945175	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	4684	144945175	1418847	1509	15808											
PLEC	5339	broad.mit.edu	37	chr8	144990850	144990850	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgctggccggcctcgtagTagagccagcccttcttcagg	13	14	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:144990850T>C	uc003zaf.1	-	32	13720	c.13550A>G	c.(13549-13551)TAC>TGC	p.Y4517C	PLEC_uc003zab.1_Missense_Mutation_p.Y4380C|PLEC_uc003zac.1_Missense_Mutation_p.Y4384C|PLEC_uc003zad.2_Missense_Mutation_p.Y4380C|PLEC_uc003zae.1_Missense_Mutation_p.Y4348C|PLEC_uc003zag.1_Missense_Mutation_p.Y4358C|PLEC_uc003zah.2_Missense_Mutation_p.Y4366C|PLEC_uc003zaj.2_Missense_Mutation_p.Y4407C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4517	Globular 2.|Plectin 31.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GGCCTCGTAGTAGAGCCAGCC	0.687													C	144990850	T	C	144990850	3	2	19	1	0	0	0	0	1	0	0	0	12052	1638	57	3	508	3	PLEC	8	144990850	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	45675	144990850	1373172	1510	15809											
OPLAH	26873	broad.mit.edu	37	chr8	145107434	145107434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgttgccgcccaccaccGccgcctcgggcgacgggtcc	13	20	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:145107434G>A	uc003zar.3	-	23	3303	c.3221C>T	c.(3220-3222)GCG>GTG	p.A1074V		NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1074							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GCCCACCACCGCCGCCTCGGG	0.746													A	145107434	G	A	145107434	3	1	19	1	0	0	0	0	1	0	0	0	10876	1087	38	1	667	1	OPLAH	8	145107434	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	116584	145107434	1256588	1511	15810											
MAF1	84232	broad.mit.edu	37	chr8	145160998	145160998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcagcaaaagccaaggcGgtgaggaggagggccccctc	15	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:145160998G>A	uc003zbc.1	+	4	733	c.232G>A	c.(232-234)GGT>AGT	p.G78S	SHARPIN_uc003zba.2_5'Flank|SHARPIN_uc003zbb.2_5'Flank|KIAA1875_uc003zbd.3_5'Flank	NM_032272	NP_115648	Q9H063	MAF1_HUMAN	MAF1 protein	78					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus					0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AAGCCAAGGCGGTGAGGAGGA	0.602													A	145160998	G	A	145160998	3	1	19	1	0	0	0	0	1	0	0	0	9156	1116	39	1	242	1	MAF1	8	145160998	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	53564	145160998	1203024	1512	15811											
HEATR7A	727957	broad.mit.edu	37	chr8	145235329	145235329	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtgtcctctctcacagcGttcggcgtagtccccttcct	9	16	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:145235329G>A	uc003zbk.3	+	7	702	c.465G>A	c.(463-465)GCG>GCA	p.A155A	HEATR7A_uc003zbg.2_Silent_p.A155A|HEATR7A_uc003zbh.3_Silent_p.A155A|HEATR7A_uc003zbi.3_Silent_p.A155A|HEATR7A_uc011lla.1_Silent_p.A155A|HEATR7A_uc010mft.2_Silent_p.A155A	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN	HEAT repeat containing 7A isoform 1	155							binding				0						CTCTCACAGCGTTCGGCGTAG	0.687													A	145235329	G	A	145235329	2	1	19	1	0	0	0	0	0	0	0	1	7034	1159	40	1		1	HEATR7A	8	145235329	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	74331	145235329	1128693	1513	15812											
HSF1	3297	broad.mit.edu	37	chr8	145533580	145533580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaagctcctggccatgaaGcagtaggtcccacaccagca	9	15	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:145533580G>A	uc003zbt.3	+	4	656	c.486G>A	c.(484-486)AAG>AAA	p.K162K	HSF1_uc003zbu.3_RNA	NM_005526	NP_005517	Q00613	HSF1_HUMAN	heat shock transcription factor 1	162	Hydrophobic repeat HR-A/B.			K->R: No effect on sumoylation.		cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TGGCCATGAAGCAGTAGGTCC	0.647													A	145533580	G	A	145533580	2	1	19	1	0	0	0	0	0	0	0	1	7395	962	34	2		2	HSF1	8	145533580	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	298251	145533580	830442	1514	15813											
FBXL6	26233	broad.mit.edu	37	chr8	145579642	145579642	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgacctgacagtgcttggTgtgacccgggtgcccctgag	15	12	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:145579642T>C	uc003zcb.2	-	8	1483	c.1458A>G	c.(1456-1458)ACA>ACG	p.T486T	C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Silent_p.T213T|FBXL6_uc003zca.2_Silent_p.T480T|FBXL6_uc010mfx.2_Silent_p.T247T|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6 isoform	486	LRR 11.				proteolysis		ubiquitin-protein ligase activity			ovary(1)|lung(1)	2	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CAGTGCTTGGTGTGACCCGGG	0.637													C	145579642	T	C	145579642	2	2	19	1	0	0	0	0	0	0	0	1	5723	1683	59	3		3	FBXL6	8	145579642	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	46062	145579642	784380	1515	15814											
GPR172A	79581	broad.mit.edu	37	chr8	145583653	145583653	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggccctagtgcagggtgtGggccgcctcgagtgcccgcc	16	15	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:145583653G>T	uc003zcc.1	+	3	658	c.501G>T	c.(499-501)GTG>GTT	p.V167V	FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Silent_p.V167V|GPR172A_uc003zce.1_Silent_p.V167V|GPR172A_uc010mfy.1_Silent_p.V167V|GPR172A_uc003zcf.1_Silent_p.V167V|GPR172A_uc011llc.1_Silent_p.V79V	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A precursor	167	Helical; (Potential).					integral to plasma membrane	receptor activity|riboflavin transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TGCAGGGTGTGGGCCGCCTCG	0.657													T	145583653	G	T	145583653	2	4	19	1	0	0	0	0	0	0	0	1	6669	1335	47	5		5	GPR172A	8	145583653	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	4011	145583653	780369	1516	15815											
CPSF1	29894	broad.mit.edu	37	chr8	145623173	145623173	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatgagggggcctacatggTgcagcgggggcttgtgcagc	19	8	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:145623173T>C	uc003zcj.2	-	20	2144	c.2069A>G	c.(2068-2070)CAC>CGC	p.H690R		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	690					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCCTACATGGTGCAGCGGGGG	0.667													C	145623173	T	C	145623173	3	2	19	1	0	0	0	0	1	0	0	0	3824	1696	59	3	2338	3	CPSF1	8	145623173	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	39520	145623173	740849	1517	15816											
CPSF1	29894	broad.mit.edu	37	chr8	145623272	145623272	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccctcggcactcatgatgAccacataggggtcggccacg	13	14	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:145623272A>G	uc003zcj.2	-	20	2045	c.1970T>C	c.(1969-1971)GTC>GCC	p.V657A		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	657					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ACTCATGATGACCACATAGGG	0.652													G	145623272	A	G	145623272	3	3	19	1	0	0	0	0	1	0	0	0	3824	275	10	3	2437	3	CPSF1	8	145623272	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	99	145623272	740750	1518	15817											
SLC39A4	55630	broad.mit.edu	37	chr8	145638262	145638262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagcgaaggccgtgagcgCggaggccaggttcagcagca	16	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:145638262C>T	uc003zcq.2	-	11	1796	c.1696G>A	c.(1696-1698)GCG>ACG	p.A566T	SLC39A4_uc003zcm.1_Missense_Mutation_p.A68T|SLC39A4_uc003zcn.2_Missense_Mutation_p.A68T|SLC39A4_uc003zco.2_Missense_Mutation_p.A290T|SLC39A4_uc003zcp.2_Missense_Mutation_p.A541T	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	566	Helical; Name=4; (Potential).					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GCCGTGAGCGCGGAGGCCAGG	0.677													T	145638262	C	T	145638262	3	4	19	1	0	0	0	0	1	0	0	0	14620	768	27	1	255	1	SLC39A4	8	145638262	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	14990	145638262	725760	1519	15818											
RECQL4	9401	broad.mit.edu	37	chr8	145737617	145737617	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggaagtcacatatctggTccttctcctcagcggtcaag	10	11	5	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:145737617T>C	uc003zdj.2	-	19	3178	c.3146A>G	c.(3145-3147)GAC>GGC	p.D1049G		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	1049					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACATATCTGGTCCTTCTCCTC	0.642			N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome				C	145737617	T	C	145737617	3	2	19	1	0	0	0	0	1	0	0	0	13202	1667	58	3	496	3	RECQL4	8	145737617	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	99355	145737617	626405	1520	15819											
DOCK8	81704	broad.mit.edu	37	chr9	332454	332454	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcagagccctacacggtTatcaaagaaagtgatggtgg	13	7	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:332454T>G	uc003zgf.2	+	10	1213	c.1101T>G	c.(1099-1101)GTT>GTG	p.V367V	DOCK8_uc011lls.1_Silent_p.V367V|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Silent_p.V299V|DOCK8_uc003zgg.2_Silent_p.V299V|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	367	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCTACACGGTTATCAAAGAAA	0.353													G	332454	T	G	332454	2	3	19	1	0	0	0	0	0	0	0	1	4693	1741	61	5		5	DOCK8	9	332454	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08		332454	140880977	1521	15820											
DOCK8	81704	broad.mit.edu	37	chr9	405015	405016	+	Frame_Shift_Ins	INS	-	-	T													cattacctcaatctgaacctINStttttttatgaatgctgata							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:405014_405015C>CT	uc003zgf.2	+	26	3443_3444	c.3331_3332C>CT	c.(3331-3333)cttfs	p.L1111fs	DOCK8_uc022bcu.1_Frame_Shift_Ins_p.L1043fs|DOCK8_uc010mgv.3_Frame_Shift_Ins_p.L1011fs|DOCK8_uc010mgu.3_Frame_Shift_Ins_p.L413fs|DOCK8_uc010mgw.2_Frame_Shift_Ins_p.L413fs|DOCK8_uc003zgk.2_Frame_Shift_Ins_p.L569fs	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1111					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAATCTGAACCTTTTTTTTATG	0.396													T	405016	-	T	405015	7	5	19	1	0	1	1	0	0	0	0	0	4693	1609	56	0	3438	0	DOCK8	9	405015	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	72561	405015	140808416	1522	15821											
KANK1	23189	broad.mit.edu	37	chr9	711135	711135	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaatctcaaagccacctccCcctctggagacctcactccc	4	21	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:711135C>A	uc003zgl.1	+	7	1018	c.369C>A	c.(367-369)CCC>CCA	p.P123P	KANK1_uc003zgm.2_Silent_p.P123P|KANK1_uc003zgn.1_Silent_p.P123P|KANK1_uc003zgo.1_Silent_p.P123P|KANK1_uc003zgp.1_Silent_p.P123P|KANK1_uc003zgq.2_5'UTR|KANK1_uc003zgr.1_5'UTR|KANK1_uc003zgs.1_5'UTR	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	123					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AGCCACCTCCCCCTCTGGAGA	0.498													A	711135	C	A	711135	2	1	19	1	0	0	0	0	0	0	0	1	7976	610	22	5		5	KANK1	9	711135	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	306120	711135	140502296	1523	15822											
SMARCA2	6595	broad.mit.edu	37	chr9	2161854	2161854	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccaaatccccccaaactgAcaaagcagatgaacgctatc	5	15	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:2161854A>G	uc003zhc.2	+	28	4249	c.4150A>G	c.(4150-4152)ACA>GCA	p.T1384A	SMARCA2_uc003zhd.2_Missense_Mutation_p.T1384A|SMARCA2_uc010mha.2_Missense_Mutation_p.T1317A|SMARCA2_uc011llw.1_Missense_Mutation_p.T88A|SMARCA2_uc003zhf.2_Missense_Mutation_p.T48A|SMARCA2_uc011llx.1_Missense_Mutation_p.T48A|SMARCA2_uc003zhe.2_Missense_Mutation_p.T90A|SMARCA2_uc003zhg.2_Missense_Mutation_p.T48A|SMARCA2_uc010mhb.2_Missense_Mutation_p.T72A	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1384					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCCCAAACTGACAAAGCAGAT	0.453													G	2161854	A	G	2161854	3	3	19	1	0	0	0	0	1	0	0	0	14769	275	10	3	4256	3	SMARCA2	9	2161854	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1450719	2161854	139051577	1524	15823											
RFX3	5991	broad.mit.edu	37	chr9	3248111	3248111	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaaaacatatattcgtcgTagagtagacggatcaggtgg	12	5	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:3248111T>C	uc003zhr.2	-	16	2201	c.1889A>G	c.(1888-1890)TAC>TGC	p.Y630C	RFX3_uc010mhd.2_Missense_Mutation_p.Y630C|RFX3_uc003zhs.1_Missense_Mutation_p.Y630C	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	630					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		ATATTCGTCGTAGAGTAGACG	0.458													C	3248111	T	C	3248111	3	2	19	1	0	0	0	0	1	0	0	0	13264	1638	57	3	528	3	RFX3	9	3248111	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1086257	3248111	137965320	1525	15824											
JAK2	3717	broad.mit.edu	37	chr9	5089710	5089710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagatgtgccggtatgacCctctacaggacaacactggg	13	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:5089710C>T	uc010mhm.2	+	19	2721	c.2608C>T	c.(2608-2610)CCT>TCT	p.P870S	JAK2_uc003ziw.2_Missense_Mutation_p.P870S	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	870	Protein kinase 2.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		CCGGTATGACCCTCTACAGGA	0.403		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				T	5089710	C	T	5089710	3	4	19	1	0	0	0	0	1	0	0	0	7938	623	22	4	2678	4	JAK2	9	5089710	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1841599	5089710	136123721	1526	15825											
GLDC	2731	broad.mit.edu	37	chr9	6610292	6610292	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcacacaccatggtctggtAgttgagtaaactctccagcc	9	12	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:6610292A>G	uc003zkc.2	-	4	728	c.535T>C	c.(535-537)TAC>CAC	p.Y179H		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	179					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ATGGTCTGGTAGTTGAGTAAA	0.547													G	6610292	A	G	6610292	3	3	19	1	0	0	0	0	1	0	0	0	6433	420	15	3	2615	3	GLDC	9	6610292	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1520582	6610292	134603139	1527	15826											
PTPRD	5789	broad.mit.edu	37	chr9	8517997	8517997	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacattgtgtttcatccagTtgttgacatgttgagtggga	11	6	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:8517997T>C	uc003zkk.2	-	20	2105	c.1394A>G	c.(1393-1395)AAC>AGC	p.N465S	PTPRD_uc003zkp.2_Missense_Mutation_p.N465S|PTPRD_uc003zkq.2_Missense_Mutation_p.N465S|PTPRD_uc003zkr.2_Missense_Mutation_p.N459S|PTPRD_uc003zks.2_Missense_Mutation_p.N455S|PTPRD_uc003zkl.2_Missense_Mutation_p.N465S|PTPRD_uc003zkm.2_Missense_Mutation_p.N452S|PTPRD_uc003zkn.2_Missense_Mutation_p.N465S|PTPRD_uc003zko.2_Missense_Mutation_p.N462S	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	465	Fibronectin type-III 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTTCATCCAGTTGTTGACATG	0.408										TSP Lung(15;0.13)			C	8517997	T	C	8517997	3	2	19	1	0	0	0	0	1	0	0	0	12799	1725	60	3	4516	3	PTPRD	9	8517997	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1907705	8517997	132695434	1528	15827											
MPDZ	8777	broad.mit.edu	37	chr9	13188889	13188889	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagttaacatcgtttacaAacatgagtcggtcaccagga	8	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:13188889A>G	uc010mia.1	-	16	2315	c.2258T>C	c.(2257-2259)TTT>TCT	p.F753S	MPDZ_uc010mhy.2_Missense_Mutation_p.F753S|MPDZ_uc010mhz.2_Missense_Mutation_p.F753S|MPDZ_uc011lmn.1_Missense_Mutation_p.F753S|MPDZ_uc003zlb.3_Missense_Mutation_p.F753S	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	753	PDZ 5.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		ATCGTTTACAAACATGAGTCG	0.473													G	13188889	A	G	13188889	3	3	19	1	0	0	0	0	1	0	0	0	9722	14	1	3	3987	3	MPDZ	9	13188889	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	4670892	13188889	128024542	1529	15828											
CER1	9350	broad.mit.edu	37	chr9	14722635	14722635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtggtctttcctagaggCaggagtaccagcagctgaaa	13	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:14722635C>T	uc003zlj.2	-	1	81	c.36G>A	c.(34-36)CTG>CTA	p.L12L		NM_005454	NP_005445	O95813	CER1_HUMAN	cerberus 1 precursor	12					BMP signaling pathway	extracellular space	cytokine activity				0				GBM - Glioblastoma multiforme(50;3.16e-06)		TTCCTAGAGGCAGGAGTACCA	0.532													T	14722635	C	T	14722635	2	4	19	1	0	0	0	0	0	0	0	1	3265	697	25	2		2	CER1	9	14722635	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1533746	14722635	126490796	1530	15829											
PSIP1	11168	broad.mit.edu	37	chr9	15490046	15490050	+	Frame_Shift_Del	DEL	CTTTT	CTTTT	-													ccataaaccttcattaaaacCttttcttttatttggtttgc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:15490045_15490049CCTTTT>C	uc003zlv.4	-	3	553_557	c.223_227AAAAGG>G	c.(223-228)aaaggtfs	p.K75fs	PSIP1_uc003zlw.4_Frame_Shift_Del_p.K75fs|PSIP1_uc003zlz.4_Frame_Shift_Del_p.K75fs|PSIP1_uc003zma.4_Frame_Shift_Del_p.K75fs|PSIP1_uc003zly.3_Frame_Shift_Del_p.K75fs	NM_033222	NP_150091	O75475	PSIP1_HUMAN	Homo sapiens PC4 and SFRS1 interacting protein 1 (PSIP1), transcript variant 2, mRNA.	75					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	DNA secondary structure binding|RNA polymerase II transcription coactivator activity|activating transcription factor binding|chromatin binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TTCATTAAAACCTTTTCTTTTATTT	0.288													-	15490050	CTTTT	-	15490046	7	5	19	1	0	1	0	1	0	0	0	0	12663	681	24	0	1447	0	PSIP1	9	15490046	Frame_Shift_Del	DEL	CTTTT	TCGA-BR-4361-01A-01D-1158-08	767411	15490046	125723385	1531	15830											
C9orf93	203238	broad.mit.edu	37	chr9	15591502	15591502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatgatccaaaattgcaatcGagaatatgatttacttatga	6	5	0	4	rs141114992		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:15591502G>A	uc003zmd.2	+	5	806	c.491G>A	c.(490-492)CGA>CAA	p.R164Q	C9orf93_uc010mih.1_Missense_Mutation_p.R164Q|C9orf93_uc003zme.2_Missense_Mutation_p.R71Q|C9orf93_uc011lmu.1_Missense_Mutation_p.R164Q|C9orf93_uc003zmc.2_Missense_Mutation_p.R164Q	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	164	Potential.|Glu-rich.										0				GBM - Glioblastoma multiforme(50;4.84e-07)		AATTGCAATCGAGAATATGAT	0.313													A	15591502	G	A	15591502	3	1	19	1	0	0	0	0	1	0	0	0	2506	1058	37	1	505	1	C9orf93	9	15591502	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	101456	15591502	125621929	1532	15831											
C9orf93	203238	broad.mit.edu	37	chr9	15623365	15623365	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acggcgacaaacaagtgaacTtgaatttagcactcaacgag	9	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:15623365T>C	uc003zmd.2	+	7	1091	c.776T>C	c.(775-777)CTT>CCT	p.L259P	C9orf93_uc010mih.1_Missense_Mutation_p.L259P|C9orf93_uc003zme.2_Missense_Mutation_p.L166P|C9orf93_uc011lmu.1_Missense_Mutation_p.L259P|C9orf93_uc003zmc.2_Missense_Mutation_p.L259P	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	259	Potential.|Glu-rich.										0				GBM - Glioblastoma multiforme(50;4.84e-07)		ACAAGTGAACTTGAATTTAGC	0.358													C	15623365	T	C	15623365	3	2	19	1	0	0	0	0	1	0	0	0	2506	1609	56	3	798	3	C9orf93	9	15623365	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	31863	15623365	125590066	1533	15832											
C9orf93	203238	broad.mit.edu	37	chr9	15874651	15874651	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagggcgggccagaggtggTagcatgccaggttagagtct	17	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:15874651T>C	uc003zmd.2	+	24	3905	c.3590T>C	c.(3589-3591)GTA>GCA	p.V1197A	C9orf93_uc003zme.2_Missense_Mutation_p.V1112A|C9orf93_uc011lmu.1_Missense_Mutation_p.V1205A|C9orf93_uc003zmf.1_Missense_Mutation_p.V505A	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	1197											0				GBM - Glioblastoma multiforme(50;4.84e-07)		CCAGAGGTGGTAGCATGCCAG	0.463													C	15874651	T	C	15874651	3	2	19	1	0	0	0	0	1	0	0	0	2506	1638	57	3	3680	3	C9orf93	9	15874651	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	251286	15874651	125338780	1534	15833											
CNTLN	54875	broad.mit.edu	37	chr9	17394908	17394908	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtgagatctggacgatAtgattgtaagacaactatga	11	4	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:17394908A>T	uc003zmz.2	+	15	2482	c.2456A>T	c.(2455-2457)TAT>TTT	p.Y819F	CNTLN_uc003zmy.2_Missense_Mutation_p.Y819F|CNTLN_uc010mio.2_Missense_Mutation_p.Y498F	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	819						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		TCTGGACGATATGATTGTAAG	0.418													T	17394908	A	T	17394908	3	4	19	1	0	0	0	0	1	0	0	0	3639	449	16	5	2544	5	CNTLN	9	17394908	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1520257	17394908	123818523	1535	15834											
CNTLN	54875	broad.mit.edu	37	chr9	17484474	17484474	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatattagacacagaagatcAagtggtaagatcatttaaat	7	4	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:17484474A>G	uc003zmz.2	+	24	4060	c.4034A>G	c.(4033-4035)CAA>CGA	p.Q1345R	CNTLN_uc003zmy.2_Missense_Mutation_p.Q1346R|CNTLN_uc010mio.2_Missense_Mutation_p.Q1025R	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1346						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		ACAGAAGATCAAGTGGTAAGA	0.328													G	17484474	A	G	17484474	3	3	19	1	0	0	0	0	1	0	0	0	3639	130	5	3	4161	3	CNTLN	9	17484474	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	89566	17484474	123728957	1536	15835											
DENND4C	55667	broad.mit.edu	37	chr9	19372127	19372127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgctccaccaagtgccAgtgtcgagtggtgcaggaag	14	9	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:19372127A>G	uc003znq.2	+	28	5011	c.4978A>G	c.(4978-4980)AGT>GGT	p.S1660G	DENND4C_uc011lnc.1_Missense_Mutation_p.S990G|DENND4C_uc011lnd.1_Missense_Mutation_p.S948G|DENND4C_uc003znr.2_3'UTR|DENND4C_uc003zns.2_3'UTR	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1660						integral to membrane				ovary(1)|skin(1)	2						ACCAAGTGCCAGTGTCGAGTG	0.413													G	19372127	A	G	19372127	3	3	19	1	0	0	0	0	1	0	0	0	4435	188	7	3	5088	3	DENND4C	9	19372127	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1887653	19372127	121841304	1537	15836											
SLC24A2	25769	broad.mit.edu	37	chr9	19516300	19516300	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgacgaagagcagcaTgatgaagagaaggacgatgg	17	4	0	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:19516300T>C	uc003zoa.1	-	10	1899	c.1837A>G	c.(1837-1839)ATG>GTG	p.M613V	SLC24A2_uc003zob.1_Missense_Mutation_p.M596V	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	613	Helical; (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AAGAGCAGCATGATGAAGAGA	0.527													C	19516300	T	C	19516300	3	2	19	1	0	0	0	0	1	0	0	0	14466	1464	51	3	152	3	SLC24A2	9	19516300	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	144173	19516300	121697131	1538	15837											
KIAA1797	54914	broad.mit.edu	37	chr9	20885231	20885231	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgctcttgtacatgaggTaggttcccgtgtcctcttct	9	11	3	1	rs145752860		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:20885231T>C	uc003zog.1	+	23	2988	c.2625_splice	c.e23+2	p.E875_splice	KIAA1797_uc003zoh.1_Splice_Site_p.E311_splice	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914							integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		GTACATGAGGTAGGTTCCCGT	0.363													C	20885231	T	C	20885231	5	2	19	1	0	0	0	0	0	0	1	0	8258	1652	57	3	2705	3	KIAA1797	9	20885231	Splice_Site	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1368931	20885231	120328200	1539	15838											
KLHL9	55958	broad.mit.edu	37	chr9	21333894	21333894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctccattcttgtgcccttTcatcatacatccgtaattct	3	13	5	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:21333894T>C	uc003zoy.2	-	1	1536	c.965A>G	c.(964-966)GAA>GGA	p.E322G	KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	kelch-like 9	322	Kelch 1.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				ovary(3)|skin(1)	4				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		TTGTGCCCTTTCATCATACAT	0.448													C	21333894	T	C	21333894	3	2	19	1	0	0	0	0	1	0	0	0	8396	1783	62	3	892	3	KLHL9	9	21333894	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	448663	21333894	119879537	1540	15839											
PLAA	9373	broad.mit.edu	37	chr9	26935204	26935204	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtaaagctcctgtttggActggaaagacaagataatta	9	6	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:26935204A>G	uc003zqd.2	-	2	575	c.150T>C	c.(148-150)AGT>AGC	p.S50S	PLAA_uc003zqe.2_Silent_p.S50S	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	50	WD 1.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity				0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TCCTGTTTGGACTGGAAAGAC	0.393													G	26935204	A	G	26935204	2	3	19	1	0	0	0	0	0	0	0	1	12011	289	10	3		3	PLAA	9	26935204	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	5601310	26935204	114278227	1541	15840											
C9orf72	203228	broad.mit.edu	37	chr9	27560292	27560292	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtttgcaagtgtgagctgAtggcactgtaagttaaagaa	13	4	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:27560292A>C	uc003zqq.2	-	6	768	c.671T>G	c.(670-672)ATC>AGC	p.I224S		NM_018325	NP_060795	Q96LT7	CI072_HUMAN	hypothetical protein LOC203228 isoform a	224										ovary(3)|central_nervous_system(1)	4		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		GTGTGAGCTGATGGCACTGTA	0.323													C	27560292	A	C	27560292	3	2	19	1	0	0	0	0	1	0	0	0	2495	333	12	5	798	5	C9orf72	9	27560292	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	625088	27560292	113653139	1542	15841											
ACO1	48	broad.mit.edu	37	chr9	32423340	32423340	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgaagaaaaattaaagTatattaaaaaatatcttcag	6	2	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:32423340T>C	uc003zqw.3	+	9	1149	c.994T>C	c.(994-996)TAT>CAT	p.Y332H	ACO1_uc010mjh.1_Missense_Mutation_p.Y166H|ACO1_uc003zqx.3_Missense_Mutation_p.Y332H|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	332					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AAAATTAAAGTATATTAAAAA	0.363													C	32423340	T	C	32423340	3	2	19	1	0	0	0	0	1	0	0	0	146	1638	57	3	1024	3	ACO1	9	32423340	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	4863048	32423340	108790091	1543	15842											
DNAJA1	3301	broad.mit.edu	37	chr9	33026949	33026949	+	Frame_Shift_Del	DEL	T	T	-													ccatggacatctttgatatgTtttttggaggaggaggaagg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:33026948_33026948GT>G	uc003zsd.1	+	2	453	c.270_270GT>G	c.(268-270)atgfs	p.M90fs	DNAJA1_uc011lnt.1_Intron|DNAJA1_uc003zse.1_Frame_Shift_Del_p.M90fs	NM_001539	NP_001530	P31689	DNJA1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 1 (DNAJA1), mRNA.	90	Gly-rich.				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TCTTTGATATGTTTTTTGGAG	0.443													-	33026949	T	-	33026949	7	5	19	1	0	1	0	1	0	0	0	0	4611	1725	60	0	277	0	DNAJA1	9	33026949	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	603609	33026949	108186482	1544	15843											
NFX1	4799	broad.mit.edu	37	chr9	33369964	33369964	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaataattgactattttgaCgtccaggactaagaagatca	7	8	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:33369964C>T	uc003zsq.2	+	24	3412	c.3351C>T	c.(3349-3351)GAC>GAT	p.D1117D	SUGT1P1_uc010mjq.1_Intron|NFX1_uc003zsr.2_Silent_p.D1118D	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	1117					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		ACTATTTTGACGTCCAGGACT	0.378													T	33369964	C	T	33369964	2	4	19	1	0	0	0	0	0	0	0	1	10387	535	19	1		1	NFX1	9	33369964	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	343015	33369964	107843467	1545	15844											
PRSS3	5646	broad.mit.edu	37	chr9	33796745	33796745	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attctggctcccacttctgcGgtggctccctcatcagcgaa	9	15	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:33796745G>T	uc003ztj.3	+	2	316	c.316G>T	c.(316-318)GGT>TGT	p.G106C	uc003ztk.1_Intron|PRSS3_uc003zti.3_Missense_Mutation_p.G63C|PRSS3_uc003ztl.3_Missense_Mutation_p.G49C	NM_007343	NP_031369	P35030	TRY3_HUMAN	mesotrypsin isoform 1 preproprotein	106	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity				0			LUSC - Lung squamous cell carcinoma(29;0.0176)			CCACTTCTGCGGTGGCTCCCT	0.567													T	33796745	G	T	33796745	3	4	19	1	0	0	0	0	1	0	0	0	12622	1116	39	5	366	5	PRSS3	9	33796745	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	426781	33796745	107416686	1546	15845											
UBAP2	55833	broad.mit.edu	37	chr9	33948487	33948487	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggtggtggtaaactggccCaaactcggagctttcaactg	14	9	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:33948487C>A	uc003ztq.1	-	13	1268	c.1155G>T	c.(1153-1155)TTG>TTT	p.L385F	UBAP2_uc011loc.1_Missense_Mutation_p.L294F|UBAP2_uc011lod.1_Missense_Mutation_p.L118F|UBAP2_uc011loe.1_Missense_Mutation_p.L140F|UBAP2_uc011lof.1_Missense_Mutation_p.L310F|UBAP2_uc011log.1_Missense_Mutation_p.L331F|UBAP2_uc003ztr.2_Missense_Mutation_p.L257F|UBAP2_uc003zts.2_Missense_Mutation_p.L18F	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	385										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TAAACTGGCCCAAACTCGGAG	0.507													A	33948487	C	A	33948487	3	1	19	1	0	0	0	0	1	0	0	0	16834	593	21	5	2272	5	UBAP2	9	33948487	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	151742	33948487	107264944	1547	15846											
KIF24	347240	broad.mit.edu	37	chr9	34257342	34257342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccctctccttctgatgtgGcgggatgtttgtccaagctt	10	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:34257342G>A	uc003zua.3	-	11	2383	c.2263C>T	c.(2263-2265)CCA>TCA	p.P755S	KIF24_uc010mkb.2_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	755					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTCTGATGTGGCGGGATGTTT	0.542													A	34257342	G	A	34257342	3	1	19	1	0	0	0	0	1	0	0	0	8292	1203	42	2	1855	2	KIF24	9	34257342	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	308855	34257342	106956089	1548	15847											
KIAA1161	57462	broad.mit.edu	37	chr9	34371269	34371269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctgtccgctggggcacgGcgttgccgcccaccatatcg	14	16	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:34371269G>A	uc003zue.3	-	3	1840	c.1673C>T	c.(1672-1674)GCC>GTC	p.A558V		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	558	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CTGGGGCACGGCGTTGCCGCC	0.652													A	34371269	G	A	34371269	3	1	19	1	0	0	0	0	1	0	0	0	8211	1203	42	2	475	2	KIAA1161	9	34371269	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	113927	34371269	106842162	1549	15848											
KIAA1161	57462	broad.mit.edu	37	chr9	34371837	34371837	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcgctggcgttggggaattTgacctcatcgaagtcgaagt	14	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:34371837T>C	uc003zue.3	-	3	1272	c.1105A>G	c.(1105-1107)AAA>GAA	p.K369E		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	369	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TTGGGGAATTTGACCTCATCG	0.577													C	34371837	T	C	34371837	3	2	19	1	0	0	0	0	1	0	0	0	8211	1821	63	3	1043	3	KIAA1161	9	34371837	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	568	34371837	106841594	1550	15849											
DNAJB5	25822	broad.mit.edu	37	chr9	34996633	34996633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcatgaagatcacaaggCgtcgcctcaaccctgatggg	12	12	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:34996633C>T	uc003zvt.2	+	3	721	c.583C>T	c.(583-585)CGT>TGT	p.R195C	DNAJB5_uc003zvs.2_Missense_Mutation_p.R229C|DNAJB5_uc011los.1_Missense_Mutation_p.R267C	NM_012266	NP_036398	O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	195				MKITRRR -> IEDHKAS (in Ref. 2; AAM10498).	protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding				0			LUSC - Lung squamous cell carcinoma(32;0.00575)			GATCACAAGGCGTCGCCTCAA	0.612													T	34996633	C	T	34996633	3	4	19	1	0	0	0	0	1	0	0	0	4623	768	27	1	809	1	DNAJB5	9	34996633	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	624796	34996633	106216798	1551	15850											
C9orf131	138724	broad.mit.edu	37	chr9	35045821	35045821	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaaaaggtgttagccaaAtgcctggataaccatcgacc	9	10	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:35045821A>C	uc003zvw.2	+	2	3224	c.3195A>C	c.(3193-3195)AAA>AAC	p.K1065N	C9orf131_uc003zvu.2_Missense_Mutation_p.K1017N|C9orf131_uc003zvv.2_Missense_Mutation_p.K992N|C9orf131_uc003zvx.2_Missense_Mutation_p.K1030N	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	hypothetical protein LOC138724 isoform A	1065											0	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TGTTAGCCAAATGCCTGGATA	0.507													C	35045821	A	C	35045821	3	2	19	1	0	0	0	0	1	0	0	0	2457	98	4	5	3217	5	C9orf131	9	35045821	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	49188	35045821	106167610	1552	15851											
TPM2	7169	broad.mit.edu	37	chr9	35689707	35689707	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccggccctaacctgcttGcagcggtcctcagcttgctt	11	16	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:35689707G>A	uc003zxq.2	-	1	347	c.108C>T	c.(106-108)TGC>TGT	p.C36C	TPM2_uc003zxr.2_Silent_p.C36C|TPM2_uc003zxs.2_Silent_p.C36C|TPM2_uc010mkz.2_Silent_p.C36C|TPM2_uc011lpa.1_Silent_p.C36C	NM_213674	NP_998839	P07951	TPM2_HUMAN	tropomyosin 2 (beta) isoform 2	36	By similarity.				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			ovary(1)	1	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAACCTGCTTGCAGCGGTCCT	0.672													A	35689707	G	A	35689707	2	1	19	1	0	0	0	0	0	0	0	1	16403	1311	46	2		2	TPM2	9	35689707	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	643886	35689707	105523724	1553	15852											
CREB3	10488	broad.mit.edu	37	chr9	35736081	35736081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggaaactccaggccatGgtgattgagatatcaaacaa	10	8	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:35736081G>A	uc003zxv.2	+	7	1101	c.648G>A	c.(646-648)ATG>ATA	p.M216I	CREB3_uc010mla.2_Missense_Mutation_p.M135I	NM_006368	NP_006359	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	240	Cytoplasmic (Potential).				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|integral to membrane|nucleus|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity				0	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		TCCAGGCCATGGTGATTGAGA	0.517											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	35736081	G	A	35736081	3	1	19	1	0	0	0	0	1	0	0	0	3855	1348	47	4	674	4	CREB3	9	35736081	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	46374	35736081	105477350	1554	15853											
RECK	8434	broad.mit.edu	37	chr9	36121578	36121578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaatacttcagaaaatcCgcatgcacgtgtctgtccca	8	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:36121578C>T	uc003zyv.2	+	20	2673	c.2587C>T	c.(2587-2589)CGC>TGC	p.R863C	RECK_uc003zyw.2_Missense_Mutation_p.R735C|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	863						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TCAGAAAATCCGCATGCACGT	0.383													T	36121578	C	T	36121578	3	4	19	1	0	0	0	0	1	0	0	0	13200	652	23	1	2665	1	RECK	9	36121578	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	385497	36121578	105091853	1555	15854											
RNF38	152006	broad.mit.edu	37	chr9	36390590	36390590	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaggatggccaggtagagaTgctgaattggccccgggaga	16	7	0	3	rs149578872	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:36390590T>C	uc003zzh.2	-	2	227	c.36A>G	c.(34-36)GCA>GCG	p.A12A	RNF38_uc003zzi.2_Intron|RNF38_uc003zzj.2_5'UTR|RNF38_uc003zzk.2_Intron|RNF38_uc003zzl.2_Intron|RNF38_uc003zzm.2_5'UTR	NM_022781	NP_073618	Q9H0F5	RNF38_HUMAN	ring finger protein 38 isoform 1	12							zinc ion binding			central_nervous_system(1)	1			STAD - Stomach adenocarcinoma(86;0.228)			CAGGTAGAGATGCTGAATTGG	0.488													C	36390590	T	C	36390590	2	2	19	1	0	0	0	0	0	0	0	1	13490	1451	51	3		3	RNF38	9	36390590	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	269012	36390590	104822841	1556	15855											
MCART1	92014	broad.mit.edu	37	chr9	37888367	37888367	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcccgggttttgatgccatAcagctgttgtcgaaagagga	12	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:37888367A>G	uc004aau.2	-	3	925	c.181T>C	c.(181-183)TAT>CAT	p.Y61H	MCART1_uc004aar.1_Intron|MCART1_uc004aaq.1_Intron|uc004aat.1_5'Flank|MCART1_uc004aav.2_Missense_Mutation_p.Y61H	NM_033412	NP_219480	Q9H1U9	MCAR1_HUMAN	mitochondrial carrier triple repeat 1	61	Solcar 1.				transport	integral to membrane|mitochondrial inner membrane				ovary(2)|breast(1)	3				GBM - Glioblastoma multiforme(29;0.00559)|Lung(182;0.0422)		TTGATGCCATACAGCTGTTGT	0.453													G	37888367	A	G	37888367	3	3	19	1	0	0	0	0	1	0	0	0	9369	391	14	3	716	3	MCART1	9	37888367	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1497777	37888367	103325064	1557	15856											
ANKRD20A3	441425	broad.mit.edu	37	chr9	67968390	67968390	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtagaaatgagttctgctaTttccaaagtaaaagctgaga	9	5	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:67968390T>C	uc004aeu.2	+	15	2061	c.1949T>C	c.(1948-1950)ATT>ACT	p.I650T	ANKRD20A3_uc010mnn.2_Missense_Mutation_p.I649T	NM_001012419	NP_001012419	Q5VUR7	A20A3_HUMAN	ankyrin repeat domain 20 family, member A3	650	Potential.										0						AGTTCTGCTATTTCCAAAGTA	0.328													C	67968390	T	C	67968390	3	2	19	1	0	0	0	0	1	0	0	0	649	1493	52	3	7071	3	ANKRD20A3	9	67968390	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	30080023	67968390	73245041	1558	15857											
MAMDC2	256691	broad.mit.edu	37	chr9	72724699	72724699	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgcactatttgaaatcaagAtgacaaccggctactgtatt	7	9	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:72724699A>G	uc004ahm.2	+	4	1101	c.484A>G	c.(484-486)ATG>GTG	p.M162V	MAMDC2_uc004ahn.2_RNA	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	MAM domain containing 2 precursor	162	MAM 1.					endoplasmic reticulum|membrane				central_nervous_system(1)|pancreas(1)	2						TGAAATCAAGATGACAACCGG	0.393													G	72724699	A	G	72724699	3	3	19	1	0	0	0	0	1	0	0	0	9203	333	12	3	498	3	MAMDC2	9	72724699	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	4756309	72724699	68488732	1559	15858											
SMC5	23137	broad.mit.edu	37	chr9	72897376	72897376	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggaatatgaagaagtaaaActagttcgtgaccgagtgaa	11	5	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:72897376A>G	uc004ahr.2	+	7	975	c.858A>G	c.(856-858)AAA>AAG	p.K286K		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	286	Potential.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						AAGAAGTAAAACTAGTTCGTG	0.353													G	72897376	A	G	72897376	2	3	19	1	0	0	0	0	0	0	0	1	14786	40	2	3		3	SMC5	9	72897376	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	172677	72897376	68316055	1560	15859											
TMEM2	23670	broad.mit.edu	37	chr9	74332984	74332984	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcggggtttgcatcctgaTgaggtcgaaatctaggggtt	14	6	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:74332984T>C	uc011lsa.1	-	13	2819	c.2279A>G	c.(2278-2280)CAT>CGT	p.H760R	TMEM2_uc010mos.2_Missense_Mutation_p.H697R|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	760						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGCATCCTGATGAGGTCGAAA	0.353													C	74332984	T	C	74332984	3	2	19	1	0	0	0	0	1	0	0	0	16118	1464	51	3	1920	3	TMEM2	9	74332984	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1435608	74332984	66880447	1561	15860											
GDA	9615	broad.mit.edu	37	chr9	74842916	74842916	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgaacgtattccatgaaCgaggagcatccatcgcacac	8	12	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:74842916C>T	uc004aiq.2	+	9	1063	c.880C>T	c.(880-882)CGA>TGA	p.R294*	GDA_uc011lse.1_Nonsense_Mutation_p.R220*|GDA_uc011lsf.1_Nonsense_Mutation_p.R220*|GDA_uc004air.2_Nonsense_Mutation_p.R294*|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Nonsense_Mutation_p.R216*|GDA_uc004ait.1_Nonsense_Mutation_p.R220*	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN	guanine deaminase	294					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		ATTCCATGAACGAGGAGCATC	0.458													T	74842916	C	T	74842916	4	4	19	1	0	0	0	0	0	1	0	0	6306	528	19	1	914	1	GDA	9	74842916	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	509932	74842916	66370515	1562	15861											
TRPM6	140803	broad.mit.edu	37	chr9	77354647	77354647	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcagacttaccctgaggcAaagatgaagcacagtgctct	9	10	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:77354647A>G	uc004ajl.1	-	34	5717	c.5479T>C	c.(5479-5481)TGC>CGC	p.C1827R	TRPM6_uc004ajk.1_Missense_Mutation_p.C1822R|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.C778R|TRPM6_uc010mpd.1_Missense_Mutation_p.C660R|TRPM6_uc010mpe.1_Missense_Mutation_p.C374R|TRPM6_uc004ajj.1_Missense_Mutation_p.C783R	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1827	Alpha-type protein kinase.|Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						ACCCTGAGGCAAAGATGAAGC	0.463													G	77354647	A	G	77354647	3	3	19	1	0	0	0	0	1	0	0	0	16587	130	5	3	613	3	TRPM6	9	77354647	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2511731	77354647	63858784	1563	15862											
TRPM6	140803	broad.mit.edu	37	chr9	77377141	77377141	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttcactccgagaggaatcActgtcacaagtggagggcaa	12	9	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:77377141A>G	uc004ajl.1	-	26	4684	c.4446T>C	c.(4444-4446)AGT>AGC	p.S1482S	TRPM6_uc004ajk.1_Silent_p.S1477S|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Silent_p.S438S	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1482	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						GAGAGGAATCACTGTCACAAG	0.493													G	77377141	A	G	77377141	2	3	19	1	0	0	0	0	0	0	0	1	16587	156	6	3		3	TRPM6	9	77377141	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	22494	77377141	63836290	1564	15863											
CEP78	84131	broad.mit.edu	37	chr9	80858467	80858467	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtatggctggcttaagacgTatcacactgaattgcaacac	9	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:80858467T>C	uc004akx.2	+	5	969	c.693T>C	c.(691-693)CGT>CGC	p.R231R	CEP78_uc004aky.3_Silent_p.R231R|CEP78_uc010mpp.2_Silent_p.R231R|CEP78_uc011lsp.1_Silent_p.R144R	NM_032171	NP_115547	Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa isoform b	231					G2/M transition of mitotic cell cycle	centrosome|cytosol				ovary(1)	1						GCTTAAGACGTATCACACTGA	0.438													C	80858467	T	C	80858467	2	2	19	1	0	0	0	0	0	0	0	1	3262	1625	57	3		3	CEP78	9	80858467	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	3481326	80858467	60354964	1565	15864											
KIF27	55582	broad.mit.edu	37	chr9	86504088	86504088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttatcttgttcttctatGtgacccaacagcatctgact	5	12	4	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:86504088G>A	uc004ana.2	-	7	2034	c.1890C>T	c.(1888-1890)CAC>CAT	p.H630H	KIF27_uc010mpw.2_Silent_p.H630H|KIF27_uc010mpx.2_Silent_p.H630H	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	630					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						GTTCTTCTATGTGACCCAACA	0.433													A	86504088	G	A	86504088	2	1	19	1	0	0	0	0	0	0	0	1	8296	1368	48	4		4	KIF27	9	86504088	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	5645621	86504088	54709343	1566	15865											
NTRK2	4915	broad.mit.edu	37	chr9	87366958	87366958	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgccttttggtaatgctgTttctgcttaagttggcaaga	10	6	1	1	rs66731880		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:87366958T>C	uc004aoa.1	+	14	2292	c.1354T>C	c.(1354-1356)TTT>CTT	p.F452L	NTRK2_uc004anv.1_Missense_Mutation_p.F439L|NTRK2_uc004any.1_Missense_Mutation_p.F452L|NTRK2_uc004anz.1_Missense_Mutation_p.F452L|NTRK2_uc011lsz.1_Missense_Mutation_p.F452L|NTRK2_uc011lta.1_Missense_Mutation_p.F452L|NTRK2_uc004aob.1_Missense_Mutation_p.F452L|NTRK2_uc011ltb.1_Missense_Mutation_p.F296L|NTRK2_uc004aoc.2_Missense_Mutation_p.F3L	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	452	Helical; (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						GGTAATGCTGTTTCTGCTTAA	0.413										TSP Lung(25;0.17)			C	87366958	T	C	87366958	3	2	19	1	0	0	0	0	1	0	0	0	10707	1725	60	3	1396	3	NTRK2	9	87366958	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	862870	87366958	53846473	1567	15866											
ZCCHC6	79670	broad.mit.edu	37	chr9	88938154	88938154	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagggaatcatttctgatgtCtggccctgtactgagtgggt	14	7	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:88938154C>A	uc004aoq.2	-	13	2726	c.2511G>T	c.(2509-2511)CAG>CAT	p.Q837H	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.Q714H|ZCCHC6_uc004aou.2_Missense_Mutation_p.Q837H	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	837	Glu-rich.				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						TTTCTGATGTCTGGCCCTGTA	0.348													A	88938154	C	A	88938154	3	1	19	1	0	0	0	0	1	0	0	0	17589	912	32	5	2036	5	ZCCHC6	9	88938154	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1571196	88938154	52275277	1568	15867											
SHC3	53358	broad.mit.edu	37	chr9	91793254	91793254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagtagggagccgccgccGgggtcgcgcgcgccgccgaa	17	16	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:91793254G>A	uc004aqg.2	-	1	429	c.122C>T	c.(121-123)CCG>CTG	p.P41L		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	41					central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4						Agccgccgccggggtcgcgcg	0.567													A	91793254	G	A	91793254	3	1	19	1	0	0	0	0	1	0	0	0	14272	1116	39	1	1710	1	SHC3	9	91793254	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2855100	91793254	49420177	1569	15868											
SECISBP2	79048	broad.mit.edu	37	chr9	91949479	91949479	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatgttgttcgacagacatTatctacagaactgtcagcag	8	8	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:91949479T>C	uc004aqj.1	+	7	1003	c.923T>C	c.(922-924)TTA>TCA	p.L308S	SECISBP2_uc010mqn.1_Intron|SECISBP2_uc004aqi.1_Intron|SECISBP2_uc011ltk.1_Missense_Mutation_p.L307S|SECISBP2_uc004aqk.1_Missense_Mutation_p.L235S|SECISBP2_uc010mqo.1_Missense_Mutation_p.L13S|SECISBP2_uc011ltl.1_Missense_Mutation_p.L240S	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	308					translation	nucleus	mRNA 3'-UTR binding			ovary(2)|skin(1)	3						CGACAGACATTATCTACAGAA	0.343													C	91949479	T	C	91949479	3	2	19	1	0	0	0	0	1	0	0	0	14006	1764	61	3	949	3	SECISBP2	9	91949479	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	156225	91949479	49263952	1570	15869											
NOL8	55035	broad.mit.edu	37	chr9	95062252	95062252	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttgtaaacgagggtcttcCtgccagacaatctttccagg	9	11	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:95062252C>A	uc004arv.2	-	14	3559	c.3222G>T	c.(3220-3222)CAG>CAT	p.Q1074H	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Missense_Mutation_p.Q306H|NOL8_uc011ltw.1_Missense_Mutation_p.Q1006H	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	1074					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						GAGGGTCTTCCTGCCAGACAA	0.408													A	95062252	C	A	95062252	3	1	19	1	0	0	0	0	1	0	0	0	10527	680	24	5	297	5	NOL8	9	95062252	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3112773	95062252	46151179	1571	15870											
OMD	4958	broad.mit.edu	37	chr9	95179830	95179830	+	Frame_Shift_Del	DEL	A	A	-													aaataacatatattggacttAaaaaacccatcttctttttt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:95179829_95179829TA>T	uc004asd.4	-	1	381	c.12_12TA>A	c.(10-12)ttafs	p.L4fs	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron	NM_005014	NP_005005	Q99983	OMD_HUMAN	Homo sapiens osteomodulin (OMD), mRNA.	4					cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						ATATTGGACTTAAAAAACCCA	0.333			T	USP6	aneurysmal bone cysts								-	95179830	A	-	95179830	7	5	19	1	0	1	0	1	0	0	0	0	10865	372	13	0	1262	0	OMD	9	95179830	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	117578	95179830	46033601	1572	15871											
IPPK	64768	broad.mit.edu	37	chr9	95400351	95400351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctgaggcccgagccccGgactcagggtgcctgcccgg	16	17	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:95400351G>A	uc004asl.1	-	9	1125	c.848C>T	c.(847-849)CCG>CTG	p.P283L	IPPK_uc004ask.1_5'Flank	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	283					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			ovary(2)	2						CCCGAGCCCCGGACTCAGGGT	0.687													A	95400351	G	A	95400351	3	1	19	1	0	0	0	0	1	0	0	0	7801	1116	39	1	647	1	IPPK	9	95400351	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	220521	95400351	45813080	1573	15872											
IPPK	64768	broad.mit.edu	37	chr9	95411818	95411818	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attaggaaggcacatagcgtAaccactgagagtatccaggt	11	8	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:95411818A>G	uc004asl.1	-	5	608	c.331T>C	c.(331-333)TAC>CAC	p.Y111H		NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	111					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			ovary(2)	2						CACATAGCGTAACCACTGAGA	0.517													G	95411818	A	G	95411818	3	3	19	1	0	0	0	0	1	0	0	0	7801	362	13	3	1180	3	IPPK	9	95411818	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	11467	95411818	45801613	1574	15873											
BICD2	23299	broad.mit.edu	37	chr9	95481493	95481493	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttctccgtgagtgcctgGccctcagcctcatagcggcc	10	17	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:95481493G>A	uc004aso.1	-	5	1491	c.1434C>T	c.(1432-1434)GGC>GGT	p.G478G	BICD2_uc004asp.1_Silent_p.G478G	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	478	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						TGAGTGCCTGGCCCTCAGCCT	0.677													A	95481493	G	A	95481493	2	1	19	1	0	0	0	0	0	0	0	1	1429	1190	42	2		2	BICD2	9	95481493	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	69675	95481493	45731938	1575	15874											
ZNF484	83744	broad.mit.edu	37	chr9	95609231	95609231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttagtgaaggatttcccaCaaatactgcattcatagggt	8	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:95609231C>T	uc004asu.1	-	5	1987	c.1838G>A	c.(1837-1839)TGT>TAT	p.C613Y	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.C615Y|ZNF484_uc010mrb.1_Missense_Mutation_p.C577Y|ZNF484_uc004asv.1_Missense_Mutation_p.C577Y	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	613	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGATTTCCCACAAATACTGCA	0.408													T	95609231	C	T	95609231	3	4	19	1	0	0	0	0	1	0	0	0	17934	478	17	4	724	4	ZNF484	9	95609231	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	127738	95609231	45604200	1576	15875											
PHF2	5253	broad.mit.edu	37	chr9	96415507	96415507	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acattgtaaagaaactgtcaTgggtagaaaactactggcca	9	7	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:96415507T>C	uc004aub.2	+	6	796	c.649T>C	c.(649-651)TGG>CGG	p.W217R	PHF2_uc011lug.1_Missense_Mutation_p.W100R	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	217	JmjC.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GAAACTGTCATGGGTAGAAAA	0.498													C	96415507	T	C	96415507	3	2	19	1	0	0	0	0	1	0	0	0	11830	1464	51	3	671	3	PHF2	9	96415507	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	806276	96415507	44797924	1577	15876											
C9orf3	84909	broad.mit.edu	37	chr9	97555117	97555117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacaattgcagtgggatgCtggacagaaatgaagatgga	13	5	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:97555117C>T	uc004ava.2	+	3	1170	c.1035C>T	c.(1033-1035)TGC>TGT	p.C345C	C9orf3_uc004aux.1_Silent_p.C345C|C9orf3_uc004auy.2_Silent_p.C345C|C9orf3_uc004auz.1_Silent_p.C345C	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	345					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		CAGTGGGATGCTGGACAGAAA	0.448													T	97555117	C	T	97555117	2	4	19	1	0	0	0	0	0	0	0	1	2477	805	28	2		2	C9orf3	9	97555117	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1139610	97555117	43658314	1578	15877											
C9orf3	84909	broad.mit.edu	37	chr9	97843020	97843020	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attgttaagcacaagttcacGaaagcctacaaaagtgtgga	9	7	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:97843020G>A	uc004ava.2	+	14	2412	c.2277G>A	c.(2275-2277)ACG>ACA	p.T759T	C9orf3_uc004auy.2_Silent_p.T660T|C9orf3_uc004auz.1_Silent_p.T660T|C9orf3_uc004avc.2_Silent_p.T214T|C9orf3_uc011luj.1_Silent_p.T121T|C9orf3_uc011luk.1_Silent_p.T100T|C9orf3_uc004avd.2_Silent_p.T121T	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	759					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		ACAAGTTCACGAAAGCCTACA	0.527													A	97843020	G	A	97843020	2	1	19	1	0	0	0	0	0	0	0	1	2477	1045	37	1		1	C9orf3	9	97843020	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	287903	97843020	43370411	1579	15878											
C9orf102	375748	broad.mit.edu	37	chr9	98718286	98718286	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatgtatttacgacagatAtacaagcaggtaaatatgtt	7	5	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:98718286A>G	uc004avt.3	+	13	2359	c.1971A>G	c.(1969-1971)ATA>ATG	p.I657M	C9orf102_uc011lum.1_Missense_Mutation_p.I359M|C9orf102_uc010mry.1_Missense_Mutation_p.I359M|C9orf102_uc010mrz.2_Missense_Mutation_p.I468M|C9orf102_uc004avu.2_Translation_Start_Site	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	657	Helicase C-terminal.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				TACGACAGATATACAAGCAGG	0.333													G	98718286	A	G	98718286	3	3	19	1	0	0	0	0	1	0	0	0	2445	439	16	3	2021	3	C9orf102	9	98718286	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	875266	98718286	42495145	1580	15879											
CDC14B	8555	broad.mit.edu	37	chr9	99284802	99284802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcacgtgagaggaatagcGtttgttttggattgtcttct	11	6	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:99284802G>A	uc004awj.2	-	12	1781	c.1329C>T	c.(1327-1329)AAC>AAT	p.N443N	CDC14B_uc004awk.2_Silent_p.N443N|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Silent_p.N406N	NM_033331	NP_201588	O60729	CC14B_HUMAN	CDC14 homolog B isoform 2	443					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				GAGGAATAGCGTTTGTTTTGG	0.418													A	99284802	G	A	99284802	2	1	19	1	0	0	0	0	0	0	0	1	3057	1136	40	1		1	CDC14B	9	99284802	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	566516	99284802	41928629	1581	15880											
ZNF782	158431	broad.mit.edu	37	chr9	99581062	99581062	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtttctctcccgtgtgagTtctctgatgttttcttaggc	10	9	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:99581062T>C	uc004awp.1	-	6	1524	c.1243A>G	c.(1243-1245)ACT>GCT	p.T415A	ZNF782_uc011lup.1_Missense_Mutation_p.T283A	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	415	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				CCCGTGTGAGTTCTCTGATGT	0.468													C	99581062	T	C	99581062	3	2	19	1	0	0	0	0	1	0	0	0	18152	1725	60	3	860	3	ZNF782	9	99581062	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	296260	99581062	41632369	1582	15881											
FAM22G	441457	broad.mit.edu	37	chr9	99699450	99699450	+	Frame_Shift_Del	DEL	C	C	-													cccacctgccaccacccaggCccccgaggccagcagagacc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:99699449_99699449GC>G	uc022bkp.1	+	4	1107	c.1086_1086GC>G	c.(1084-1086)aggfs	p.R362fs	FAM22G_uc004awq.2_Frame_Shift_Del_p.R362fs	NM_001170741	NP_001164212	Q5VZR2	FA22G_HUMAN	Homo sapiens family with sequence similarity 22, member G (FAM22G), transcript variant 2, mRNA.	362	Pro-rich.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(5)|skin(2)|stomach(1)	17		Acute lymphoblastic leukemia(62;0.0527)				CACCACCCAGGCCCCCGAGGC	0.672													-	99699450	C	-	99699450	7	5	19	1	0	1	0	1	0	0	0	0	5546	739	26	0	1105	0	FAM22G	9	99699450	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	118388	99699450	41513981	1583	15882											
KIAA1529	57653	broad.mit.edu	37	chr9	100119941	100119941	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattcgcaaacaaatggattAaatttctctctgcaacagct	5	9	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:100119941A>G	uc011lut.1	+	37	4619	c.3846A>G	c.(3844-3846)TTA>TTG	p.L1282L	KIAA1529_uc004axe.1_Silent_p.L1114L|KIAA1529_uc004axg.1_Silent_p.L1143L|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Silent_p.L299L	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				CAAATGGATTAAATTTCTCTC	0.368													G	100119941	A	G	100119941	2	3	19	1	0	0	0	0	0	0	0	1	8240	359	13	3		3	KIAA1529	9	100119941	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	420491	100119941	41093490	1584	15883											
ANP32B	10541	broad.mit.edu	37	chr9	100767349	100767349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgccccagcttacctActtggatggctatgaccgag	10	14	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:100767349A>G	uc004aya.2	+	4	780	c.431A>G	c.(430-432)TAC>TGC	p.Y144C		NM_006401	NP_006392	Q92688	AN32B_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32	144	LRRCT.					cytoplasm|nucleus					0		Acute lymphoblastic leukemia(62;0.0559)				CAGCTTACCTACTTGGATGGC	0.517													G	100767349	A	G	100767349	3	3	19	1	0	0	0	0	1	0	0	0	706	391	14	3	445	3	ANP32B	9	100767349	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	647408	100767349	40446082	1585	15884											
TBC1D2	55357	broad.mit.edu	37	chr9	100971115	100971115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggcagcagggtgctcgCgggcctggccccggctcagc	19	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:100971115C>T	uc011lvb.1	-	9	2165	c.1985G>A	c.(1984-1986)CGC>CAC	p.R662H	TBC1D2_uc004ayp.2_Missense_Mutation_p.R202H|TBC1D2_uc004ayq.2_Missense_Mutation_p.R662H|TBC1D2_uc004ayr.2_Missense_Mutation_p.R444H|TBC1D2_uc004ayo.3_Missense_Mutation_p.R662H	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	662	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			ovary(3)	3		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGGGTGCTCGCGGGCCTGGCC	0.652													T	100971115	C	T	100971115	3	4	19	1	0	0	0	0	1	0	0	0	15605	768	27	1	788	1	TBC1D2	9	100971115	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	203766	100971115	40242316	1586	15885											
GABBR2	9568	broad.mit.edu	37	chr9	101243237	101243237	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagaacacttttgctgccaTattctggtcaaactggccaa	7	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:101243237T>C	uc004ays.2	-	5	931	c.775A>G	c.(775-777)ATG>GTG	p.M259V		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	259	Extracellular (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TTTGCTGCCATATTCTGGTCA	0.453													C	101243237	T	C	101243237	3	2	19	1	0	0	0	0	1	0	0	0	6156	1406	49	3	2110	3	GABBR2	9	101243237	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	272122	101243237	39970194	1587	15886											
TEX10	54881	broad.mit.edu	37	chr9	103111562	103111562	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttttaaagtttgtaggagtAgcattttgtaacttgggctt	11	3	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:103111562A>G	uc004bas.2	-	2	299	c.84T>C	c.(82-84)GCT>GCC	p.A28A	TEX10_uc011lvf.1_5'Flank|TEX10_uc011lvg.1_Silent_p.A31A|TEX10_uc011lvh.1_Intron|TEX10_uc004bat.2_Silent_p.A28A	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10 isoform 1	28						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTGTAGGAGTAGCATTTTGTA	0.318													G	103111562	A	G	103111562	2	3	19	1	0	0	0	0	0	0	0	1	15769	407	15	3		3	TEX10	9	103111562	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1868325	103111562	38101869	1588	15887											
OR13C5	138799	broad.mit.edu	37	chr9	107361324	107361324	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagagggttgcagatagccAcatagcggtcaaaggccatc	12	10	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:107361324A>G	uc011lvp.1	-	1	371	c.371T>C	c.(370-372)GTG>GCG	p.V124A		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4						GCAGATAGCCACATAGCGGTC	0.522													G	107361324	A	G	107361324	3	3	19	1	0	0	0	0	1	0	0	0	10937	159	6	3	587	3	OR13C5	9	107361324	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	4249762	107361324	33852107	1589	15888											
OR13C2	392376	broad.mit.edu	37	chr9	107367363	107367363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccagtttcatgacagcCagaatttcacaggtgaaatg	10	9	2	3	rs78524552		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:107367363C>T	uc011lvq.1	-	1	546	c.546G>A	c.(544-546)CTG>CTA	p.L182L		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C,	182	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TCATGACAGCCAGAATTTCAC	0.403													T	107367363	C	T	107367363	2	4	19	1	0	0	0	0	0	0	0	1	10934	581	21	4		4	OR13C2	9	107367363	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	6039	107367363	33846068	1590	15889											
TMEM38B	55151	broad.mit.edu	37	chr9	108467986	108467986	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgcttgcagagcctccatTgaagtttcttgcaaaccaca	7	12	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:108467986T>C	uc004bcu.1	+	2	338	c.221T>C	c.(220-222)TTG>TCG	p.L74S	TMEM38B_uc010mtn.1_Missense_Mutation_p.L74S	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	74	Cytoplasmic (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			ovary(1)|skin(1)	2						GAGCCTCCATTGAAGTTTCTT	0.408													C	108467986	T	C	108467986	3	2	19	1	0	0	0	0	1	0	0	0	16157	1821	63	3	227	3	TMEM38B	9	108467986	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1100623	108467986	32745445	1591	15890											
EPB41L4B	54566	broad.mit.edu	37	chr9	112027297	112027297	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgcctgagttgtaaaacaaAcaggtacctgacaaacatat	7	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:112027297A>T	uc004bdz.1	-	5	836	c.541T>A	c.(541-543)TTT>ATT	p.F181I	EPB41L4B_uc004bea.2_Missense_Mutation_p.F181I	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	181	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						TGTAAAACAAACAGGTACCTG	0.413													T	112027297	A	T	112027297	3	4	19	1	0	0	0	0	1	0	0	0	5156	43	2	5	2401	5	EPB41L4B	9	112027297	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3559311	112027297	29186134	1592	15891											
LPAR1	1902	broad.mit.edu	37	chr9	113703994	113703994	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtccagatgaccacaatgAccaccactacccgccggttg	8	15	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:113703994A>G	uc004bfa.2	-	4	755	c.500T>C	c.(499-501)GTC>GCC	p.V167A	LPAR1_uc011lwm.1_Missense_Mutation_p.V168A|LPAR1_uc004bfb.2_Missense_Mutation_p.V167A|LPAR1_uc004bfc.2_Missense_Mutation_p.V167A|LPAR1_uc011lwn.1_Missense_Mutation_p.V149A|LPAR1_uc011lwo.1_Missense_Mutation_p.V168A|LPAR1_uc010mub.2_Missense_Mutation_p.V167A	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	167	Helical; Name=4; (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				ovary(2)	2						GACCACAATGACCACCACTAC	0.512													G	113703994	A	G	113703994	3	3	19	1	0	0	0	0	1	0	0	0	8904	275	10	3	602	3	LPAR1	9	113703994	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1676697	113703994	27509437	1593	15892											
C9orf84	158401	broad.mit.edu	37	chr9	114538127	114538127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaactgacaggggtaaagActtcattgtagtccatgtgg	11	7	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:114538127A>G	uc004bfr.2	-	3	329	c.194T>C	c.(193-195)GTC>GCC	p.V65A	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfs.1_Missense_Mutation_p.V129A	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	65										ovary(2)	2						AGGGGTAAAGACTTCATTGTA	0.343													G	114538127	A	G	114538127	3	3	19	1	0	0	0	0	1	0	0	0	2500	275	10	3	4373	3	C9orf84	9	114538127	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	834133	114538127	26675304	1594	15893											
SUSD1	64420	broad.mit.edu	37	chr9	114825229	114825229	+	Frame_Shift_Del	DEL	T	T	-													ctactgacctgattggtccaTttttctccttggctttcctc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:114825228_114825228AT>A	uc010mui.3	-	12	1880	c.1839_1839AT>T	c.(1837-1839)aatfs	p.N613fs	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Frame_Shift_Del_p.N613fs|SUSD1_uc010muj.3_Frame_Shift_Del_p.N613fs			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	613						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TGATTGGTCCATTTTTCTCCT	0.488													-	114825229	T	-	114825229	7	5	19	1	0	1	0	1	0	0	0	0	15404	1493	52	0	425	0	SUSD1	9	114825229	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	287102	114825229	26388202	1595	15894											
ROD1	9991	broad.mit.edu	37	chr9	114986168	114986168	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggaaactctgaggtggTgattttctccaaggtcatgg	13	6	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:114986168T>C	uc004bfw.2	-	15	1809	c.1622A>G	c.(1621-1623)CAC>CGC	p.H541R	ROD1_uc004bfv.2_Missense_Mutation_p.H547R|ROD1_uc004bfx.2_Missense_Mutation_p.H544R|ROD1_uc011lwu.1_Missense_Mutation_p.H513R|ROD1_uc004bfy.2_Missense_Mutation_p.H446R|ROD1_uc004bfz.2_Intron	NM_005156	NP_005147	O95758	ROD1_HUMAN	ROD1 regulator of differentiation 1 isoform 1	541	RRM 4.				anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding			skin(1)	1						TCTGAGGTGGTGATTTTCTCC	0.398													C	114986168	T	C	114986168	3	2	19	1	0	0	0	0	1	0	0	0	13519	1696	59	3	40	3	ROD1	9	114986168	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	160939	114986168	26227263	1596	15895											
ALAD	210	broad.mit.edu	37	chr9	116153209	116153209	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcagctgcggaaccccgcTcgtcctaggggcaggggagg	17	12	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:116153209T>C	uc011lxf.1	-	5	468	c.266A>G	c.(265-267)GAG>GGG	p.E89G	ALAD_uc011lxe.1_Missense_Mutation_p.E72G|ALAD_uc004bhl.3_Missense_Mutation_p.E118G	NM_000031	NP_000022	P13716	HEM2_HUMAN	delta-aminolevulinic acid dehydratase	89					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding				0					Aminolevulinic acid(DB00855)	GGAACCCCGCTCGTCCTAGGG	0.572													C	116153209	T	C	116153209	3	2	19	1	0	0	0	0	1	0	0	0	483	1551	54	3	758	3	ALAD	9	116153209	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1167041	116153209	25060222	1597	15896											
RGS3	5998	broad.mit.edu	37	chr9	116276764	116276764	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcccagtaaagggaagTcctacacaggcctggggaag	15	9	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:116276764T>C	uc004bhq.2	+	16	1713	c.1504T>C	c.(1504-1506)TCC>CCC	p.S502P	RGS3_uc004bhr.2_Missense_Mutation_p.S390P|RGS3_uc004bhs.2_Missense_Mutation_p.S392P|RGS3_uc004bht.2_Missense_Mutation_p.S221P|RGS3_uc010muy.2_Missense_Mutation_p.S221P|RGS3_uc004bhu.2_Missense_Mutation_p.S128P	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	502					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						TAAAGGGAAGTCCTACACAGG	0.552													C	116276764	T	C	116276764	3	2	19	1	0	0	0	0	1	0	0	0	13306	1667	58	3	1703	3	RGS3	9	116276764	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	123555	116276764	24936667	1598	15897											
AMBP	259	broad.mit.edu	37	chr9	116823776	116823776	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgcccatgcagccgccgtActggaaagtctcacaggcca	11	14	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:116823776A>G	uc004bie.3	-	8	1044	c.781T>C	c.(781-783)TAC>CAC	p.Y261H	AMBP_uc011lxk.1_Missense_Mutation_p.Y202H|AMBP_uc010mvc.1_RNA	NM_001633	NP_001624	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin preproprotein	261	BPTI/Kunitz inhibitor 1.				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			skin(1)	1					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CAGCCGCCGTACTGGAAAGTC	0.577													G	116823776	A	G	116823776	3	3	19	1	0	0	0	0	1	0	0	0	564	391	14	3	289	3	AMBP	9	116823776	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	547012	116823776	24389655	1599	15898											
KIF12	113220	broad.mit.edu	37	chr9	116857556	116857556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtgagcttgctgtcccGgaaagggatgtggctctgct	15	9	1	1	rs147234281	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:116857556G>A	uc004bif.2	-	7	776	c.538C>T	c.(538-540)CGG>TGG	p.R180W	KIF12_uc004big.2_RNA	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	kinesin family member 12	313					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						TTGCTGTCCCGGAAAGGGATG	0.517													A	116857556	G	A	116857556	3	1	19	1	0	0	0	0	1	0	0	0	8273	1115	39	1	1043	1	KIF12	9	116857556	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	33780	116857556	24355875	1600	15899											
C9orf91	203197	broad.mit.edu	37	chr9	117405489	117405489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacctcccagctccctcagGcaatggggacacgacacacg	10	16	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:117405489G>A	uc004bjd.3	+	9	1142	c.925G>A	c.(925-927)GCA>ACA	p.A309T	C9orf91_uc004bje.3_Missense_Mutation_p.A288T|C9orf91_uc004bjf.3_Missense_Mutation_p.A208T	NM_153045	NP_694590	Q5VZI3	CI091_HUMAN	hypothetical protein LOC203197	309						integral to membrane				pancreas(1)	1						GCTCCCTCAGGCAATGGGGAC	0.592													A	117405489	G	A	117405489	3	1	19	1	0	0	0	0	1	0	0	0	2505	1203	42	2	955	2	C9orf91	9	117405489	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	547933	117405489	23807942	1601	15900											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123220874	123220874	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaagtatccatttttgcaGcctcctttggaaaggtcttt	7	9	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:123220874G>A	uc004bkf.2	-	20	2410	c.2229C>T	c.(2227-2229)GGC>GGT	p.G743G	CDK5RAP2_uc004bke.2_Silent_p.G28G|CDK5RAP2_uc004bkg.2_Silent_p.G743G|CDK5RAP2_uc011lxw.1_Silent_p.G8G|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Silent_p.G8G|CDK5RAP2_uc011lya.1_Silent_p.G8G|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.2_Silent_p.G510G	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	743					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						CATTTTTGCAGCCTCCTTTGG	0.448													A	123220874	G	A	123220874	2	1	19	1	0	0	0	0	0	0	0	1	3146	958	34	2		2	CDK5RAP2	9	123220874	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	5815385	123220874	17992557	1602	15901											
GSN	2934	broad.mit.edu	37	chr9	124064424	124064424	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaacggaaatctgcagTatgacctccactactggctg	11	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:124064424T>C	uc004blf.1	+	2	389	c.328T>C	c.(328-330)TAT>CAT	p.Y110H	GSN_uc004bld.1_Missense_Mutation_p.Y59H|GSN_uc010mvq.1_Missense_Mutation_p.Y70H|GSN_uc010mvr.1_Missense_Mutation_p.Y70H|GSN_uc010mvu.1_Missense_Mutation_p.Y59H|GSN_uc010mvt.1_Missense_Mutation_p.Y59H|GSN_uc010mvs.1_Missense_Mutation_p.Y59H|GSN_uc004ble.1_Missense_Mutation_p.Y59H|GSN_uc010mvv.1_Missense_Mutation_p.Y59H|GSN_uc011lyh.1_Missense_Mutation_p.Y76H|GSN_uc011lyi.1_Missense_Mutation_p.Y59H|GSN_uc011lyj.1_Missense_Mutation_p.Y83H	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	110	Actin-severing (Potential).|Gelsolin-like 1.				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3						AAATCTGCAGTATGACCTCCA	0.612													C	124064424	T	C	124064424	3	2	19	1	0	0	0	0	1	0	0	0	6825	1638	57	3	362	3	GSN	9	124064424	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	843550	124064424	17149007	1603	15902											
PTGS1	5742	broad.mit.edu	37	chr9	125141137	125141137	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctttctccaacgtgagcTattacactcgtattctgccc	6	13	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:125141137T>C	uc004bmg.1	+	5	571	c.436T>C	c.(436-438)TAT>CAT	p.Y146H	PTGS1_uc011lys.1_Missense_Mutation_p.Y121H|PTGS1_uc010mwb.1_Missense_Mutation_p.Y37H|PTGS1_uc004bmf.1_Missense_Mutation_p.Y146H|PTGS1_uc004bmh.1_Missense_Mutation_p.Y37H|PTGS1_uc011lyt.1_Missense_Mutation_p.Y37H	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	146					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|skin(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CAACGTGAGCTATTACACTCG	0.527													C	125141137	T	C	125141137	3	2	19	1	0	0	0	0	1	0	0	0	12755	1522	53	3	454	3	PTGS1	9	125141137	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1076713	125141137	16072294	1604	15903											
OR1L6	392390	broad.mit.edu	37	chr9	125512494	125512494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctctatggccatcgaccGgctggtggccatctgcaacc	12	15	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:125512494G>A	uc011lzc.1	+	1	476	c.476G>A	c.(475-477)CGG>CAG	p.R159Q		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L,	159	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GCCATCGACCGGCTGGTGGCC	0.517													A	125512494	G	A	125512494	3	1	19	1	0	0	0	0	1	0	0	0	10966	1116	39	1	370	1	OR1L6	9	125512494	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	371357	125512494	15700937	1605	15904											
PDCL	5082	broad.mit.edu	37	chr9	125582652	125582652	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacagctgggtactctgcGgcaaggcagatcatgcaacc	12	11	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:125582652G>A	uc004bmz.1	-	4	714	c.618C>T	c.(616-618)GCC>GCT	p.A206A	PDCL_uc004bna.2_3'UTR	NM_005388	NP_005379	Q13371	PHLP_HUMAN	phosducin-like	206					signal transduction|visual perception						0						GGTACTCTGCGGCAAGGCAGA	0.478													A	125582652	G	A	125582652	2	1	19	1	0	0	0	0	0	0	0	1	11626	1103	39	1		1	PDCL	9	125582652	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	70158	125582652	15630779	1606	15905											
ZBTB6	10773	broad.mit.edu	37	chr9	125673698	125673698	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggattctacatgaaggatAcaaatttcattgtctttaaa	6	5	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:125673698A>G	uc004bnh.2	-	2	743	c.654T>C	c.(652-654)TGT>TGC	p.C218C		NM_006626	NP_006617	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CATGAAGGATACAAATTTCAT	0.403													G	125673698	A	G	125673698	2	3	19	1	0	0	0	0	0	0	0	1	17549	389	14	3		3	ZBTB6	9	125673698	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	91046	125673698	15539733	1607	15906											
DENND1A	57706	broad.mit.edu	37	chr9	126213008	126213008	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttcacctcttttattccCatttttgcatgatcttttgc	3	10	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:126213008C>A	uc004bnz.1	-	18	1553	c.1320G>T	c.(1318-1320)ATG>ATT	p.M440I	DENND1A_uc011lzl.1_Missense_Mutation_p.M215I|DENND1A_uc004bny.1_Missense_Mutation_p.M179I|DENND1A_uc011lzm.1_Missense_Mutation_p.M408I|DENND1A_uc004boa.1_Missense_Mutation_p.M440I|DENND1A_uc004bob.1_Missense_Mutation_p.M410I|DENND1A_uc004boc.2_Missense_Mutation_p.M408I	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	440						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2						CTTTTATTCCCATTTTTGCAT	0.353													A	126213008	C	A	126213008	3	1	19	1	0	0	0	0	1	0	0	0	4426	594	21	5	1836	5	DENND1A	9	126213008	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	539310	126213008	15000423	1608	15907											
LHX2	9355	broad.mit.edu	37	chr9	126777427	126777427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtgcagcgctgcgcccGctgccacctgggcatctcgg	13	17	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:126777427G>A	uc004boe.1	+	3	1089	c.350G>A	c.(349-351)CGC>CAC	p.R117H	LHX2_uc010mwi.1_Missense_Mutation_p.R125H	NM_004789	NP_004780	P50458	LHX2_HUMAN	LIM homeobox protein 2	117	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CGCTGCGCCCGCTGCCACCTG	0.627													A	126777427	G	A	126777427	3	1	19	1	0	0	0	0	1	0	0	0	8771	1087	38	1	360	1	LHX2	9	126777427	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	564419	126777427	14436004	1609	15908											
WDR38	401551	broad.mit.edu	37	chr9	127618544	127618544	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagatgctgcgcctcttagTtgggcaccgtgactccatcc	10	15	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:127618544T>C	uc004box.2	+	5	487	c.431T>C	c.(430-432)GTT>GCT	p.V144A	WDR38_uc011lzn.1_Missense_Mutation_p.V133A|WDR38_uc011lzo.1_Missense_Mutation_p.V144A|WDR38_uc011lzp.1_Missense_Mutation_p.V95A	NM_001045476	NP_001038941	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	144											0						CGCCTCTTAGTTGGGCACCGT	0.642											OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	127618544	T	C	127618544	3	2	19	1	0	0	0	0	1	0	0	0	17289	1725	60	3	449	3	WDR38	9	127618544	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	841117	127618544	13594887	1610	15909											
PPP6C	5537	broad.mit.edu	37	chr9	127920587	127920587	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaaagtgtaatacgatcAggccatttagcctttaatgc	8	9	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:127920587A>G	uc004bpg.3	-	4	533	c.312T>C	c.(310-312)CCT>CCC	p.P104P	PPP6C_uc010mwv.2_Silent_p.P141P|PPP6C_uc010mww.2_Silent_p.P82P|PPP6C_uc011lzr.1_Intron	NM_002721	NP_002712	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit isoform	104					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			ovary(1)|skin(1)	2						TAATACGATCAGGCCATTTAG	0.358													G	127920587	A	G	127920587	2	3	19	1	0	0	0	0	0	0	0	1	12407	175	7	3		3	PPP6C	9	127920587	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	302043	127920587	13292844	1611	15910											
GAPVD1	26130	broad.mit.edu	37	chr9	128116933	128116933	+	Splice_Site	DEL	A	A	-													caaagtatttttccttttagAaaaagagccccatatattgc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:128116932_128116932GA>G	uc004bpp.3	+	23	3811	c.3651_splice	c.e23-1	p.R1217_splice	GAPVD1_uc004bpq.3_Splice_Site_p.R1190_splice|GAPVD1_uc010mwx.3_Splice_Site_p.R1208_splice|GAPVD1_uc004bpr.3_Splice_Site_p.R1169_splice|GAPVD1_uc004bps.3_Splice_Site_p.R1163_splice|GAPVD1_uc004bpt.3_Splice_Site_p.R223_splice	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	1208					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTTCCTTTTAGAAAAAGAGCC	0.393													-	128116933	A	-	128116933	8	5	19	1	0	1	0	1	0	0	1	0	6239	260	9	0	3737	0	GAPVD1	9	128116933	Splice_Site	DEL	A	TCGA-BR-4361-01A-01D-1158-08	196346	128116933	13096498	1612	15911											
FAM125B	89853	broad.mit.edu	37	chr9	129157961	129157961	+	Frame_Shift_Del	DEL	C	C	-													atcagctgcctccaccccagCccccaaccttcccaggtgag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:129157960_129157960GC>G	uc004bqh.2	+	5	732	c.646_646GC>G	c.(646-648)gccfs	p.A216fs	FAM125B_uc004bqg.2_Frame_Shift_Del_p.A216fs|FAM125B_uc011lzy.2_Frame_Shift_Del_p.A201fs|FAM125B_uc010mxd.3_Frame_Shift_Del_p.A209fs|FAM125B_uc011lzz.1_Frame_Shift_Del_p.A209fs	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	Homo sapiens family with sequence similarity 125, member B (FAM125B), transcript variant 1, mRNA.	216					protein transport	late endosome membrane				kidney(1)|large_intestine(4)|lung(4)|urinary_tract(1)	10						CTCCACCCCAGCCCCCAACCT	0.542													-	129157961	C	-	129157961	7	5	19	1	0	1	0	1	0	0	0	0	5428	739	26	0	669	0	FAM125B	9	129157961	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	1041028	129157961	12055470	1613	15912											
FAM125B	89853	broad.mit.edu	37	chr9	129184204	129184204	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacggactacgagtaccagcActccaatttgtatgccatat	8	11	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:129184204A>G	uc004bqh.1	+	7	815	c.734A>G	c.(733-735)CAC>CGC	p.H245R	FAM125B_uc011lzy.1_Missense_Mutation_p.H230R|FAM125B_uc010mxd.2_Missense_Mutation_p.H238R	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	hypothetical protein LOC89853 isoform 1	245					protein transport	late endosome membrane					0						GAGTACCAGCACTCCAATTTG	0.572													G	129184204	A	G	129184204	3	3	19	1	0	0	0	0	1	0	0	0	5428	159	6	3	764	3	FAM125B	9	129184204	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	26243	129184204	12029227	1614	15913											
GARNL3	84253	broad.mit.edu	37	chr9	130075748	130075748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactacattggaaacgatgcCgagaagagccctttcttctt	8	10	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:130075748C>T	uc011mae.1	+	4	749	c.348C>T	c.(346-348)GCC>GCT	p.A116A	GARNL3_uc011mad.1_Silent_p.A94A	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	116					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GAAACGATGCCGAGAAGAGCC	0.443													T	130075748	C	T	130075748	2	4	19	1	0	0	0	0	0	0	0	1	6241	639	23	1		1	GARNL3	9	130075748	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	891544	130075748	11137683	1615	15914											
ZNF79	7633	broad.mit.edu	37	chr9	130206787	130206787	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctcaccaaacaccagcgaAcccacaccggagagaagccc	7	18	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:130206787A>G	uc004bqw.3	+	5	1222	c.808A>G	c.(808-810)ACC>GCC	p.T270A	ZNF79_uc011maf.1_Missense_Mutation_p.T246A|ZNF79_uc011mag.1_Missense_Mutation_p.T246A	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	zinc finger protein 79	270	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						ACACCAGCGAACCCACACCGG	0.517													G	130206787	A	G	130206787	3	3	19	1	0	0	0	0	1	0	0	0	18158	43	2	3	826	3	ZNF79	9	130206787	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	131039	130206787	11006644	1616	15915											
LRSAM1	90678	broad.mit.edu	37	chr9	130251732	130251732	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgttgcagagcgcgatgCagaaggctgcgttcgaggca	16	9	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:130251732C>T	uc004brb.1	+	19	1702	c.1357C>T	c.(1357-1359)CAG>TAG	p.Q453*	LRSAM1_uc010mxk.1_Nonsense_Mutation_p.Q453*|LRSAM1_uc004brc.1_Nonsense_Mutation_p.Q453*|LRSAM1_uc004brd.1_Nonsense_Mutation_p.Q453*|LRSAM1_uc004bre.1_Nonsense_Mutation_p.Q33*	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif	453					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding				0						GAGCGCGATGCAGAAGGCTGC	0.602													T	130251732	C	T	130251732	4	4	19	1	0	0	0	0	0	1	0	0	9043	711	25	2	1423	2	LRSAM1	9	130251732	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	44945	130251732	10961699	1617	15916											
FAM129B	64855	broad.mit.edu	37	chr9	130272565	130272565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatggatgggatgtaggGctggacatggttccgcacgc	17	8	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:130272565G>A	uc004brh.2	-	9	1223	c.1021C>T	c.(1021-1023)CCC>TCC	p.P341S	FAM129B_uc004bri.2_Missense_Mutation_p.P328S|FAM129B_uc004brj.3_Missense_Mutation_p.P341S	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	341							protein binding				0						GGGATGTAGGGCTGGACATGG	0.632													A	130272565	G	A	130272565	3	1	19	1	0	0	0	0	1	0	0	0	5437	1203	42	2	1243	2	FAM129B	9	130272565	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	20833	130272565	10940866	1618	15917											
FAM102A	399665	broad.mit.edu	37	chr9	130707135	130707135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcatcgatccgcgtgtcGtccacccaggtcgggtggct	13	15	0	0	rs139831125		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:130707135G>A	uc004bsx.1	-	9	1039	c.960C>T	c.(958-960)GAC>GAT	p.D320D	FAM102A_uc004bsw.1_Silent_p.D178D|FAM102A_uc004bsy.1_Silent_p.D48D	NM_001035254	NP_001030331	Q5T9C2	F102A_HUMAN	early estrogen-induced gene 1 protein isoform a	320										ovary(1)	1						TCCGCGTGTCGTCCACCCAGG	0.617													A	130707135	G	A	130707135	2	1	19	1	0	0	0	0	0	0	0	1	5382	1136	40	1		1	FAM102A	9	130707135	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	434570	130707135	10506296	1619	15918											
FAM102A	399665	broad.mit.edu	37	chr9	130710444	130710444	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcccaccacccttacaCgtcagctgcagggaggaatc	10	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:130710444C>T	uc004bsx.1	-	6	601	c.522G>A	c.(520-522)ACG>ACA	p.T174T	FAM102A_uc004bsw.1_Silent_p.T32T|FAM102A_uc004bsy.1_Translation_Start_Site	NM_001035254	NP_001030331	Q5T9C2	F102A_HUMAN	early estrogen-induced gene 1 protein isoform a	174	Ser-rich.									ovary(1)	1						CACCCTTACACGTCAGCTGCA	0.627													T	130710444	C	T	130710444	2	4	19	1	0	0	0	0	0	0	0	1	5382	523	19	1		1	FAM102A	9	130710444	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3309	130710444	10502987	1620	15919											
DNM1	1759	broad.mit.edu	37	chr9	130980867	130980867	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcttctggagcagaatatgCcgagttcctgcactgcaagg	12	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:130980867C>G	uc011mau.1	+	3	329	c.242C>G	c.(241-243)GCC>GGC	p.A81G	DNM1_uc010mxr.2_Missense_Mutation_p.A81G|DNM1_uc011mat.1_Missense_Mutation_p.A81G	NM_004408	NP_004399	Q05193	DYN1_HUMAN	dynamin 1 isoform 1	81					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			ovary(2)	2						GCAGAATATGCCGAGTTCCTG	0.587													G	130980867	C	G	130980867	3	3	19	1	0	0	0	0	1	0	0	0	4670	739	26	5	252	5	DNM1	9	130980867	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	270423	130980867	10232564	1621	15920											
ODF2	4957	broad.mit.edu	37	chr9	131222909	131222909	+	Frame_Shift_Del	DEL	A	A	-													acccctgtccacgtccacatAaaaaaactcccgaaaccatc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:131222908_131222908TA>T	uc004bvc.3	+	2	421	c.335_335TA>T	c.(334-336)atafs	p.I112fs	ODF2_uc011maz.2_Intron|ODF2_uc011mba.2_Non-coding_Transcript|ODF2_uc010myb.3_Frame_Shift_Del_p.I24fs|ODF2_uc011mbc.2_Frame_Shift_Del_p.I24fs|ODF2_uc022boj.1_Intron|ODF2_uc004bva.3_Intron|ODF2_uc004bvb.3_Frame_Shift_Del_p.I24fs|ODF2_uc011mbd.2_Intron|ODF2_uc011mbe.2_Frame_Shift_Del_p.I24fs|ODF2_uc010myc.3_Intron|ODF2_uc011mbf.2_Intron|ODF2_uc004bvd.4_Intron|ODF2_uc004bve.3_Intron	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	41					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CACGTCCACATAAAAAAACTC	0.567													-	131222909	A	-	131222909	7	5	19	1	0	1	0	1	0	0	0	0	10827	352	13	0	205	0	ODF2	9	131222909	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	242042	131222909	9990522	1622	15921											
SPTAN1	6709	broad.mit.edu	37	chr9	131349934	131349934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagatctcagtgcctacgGcagcagcatccaggctttgc	11	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:131349934G>A	uc004bvl.3	+	20	2941	c.2828G>A	c.(2827-2829)GGC>GAC	p.G943D	SPTAN1_uc011mbg.1_Missense_Mutation_p.G943D|SPTAN1_uc011mbh.1_Missense_Mutation_p.G955D|SPTAN1_uc004bvm.3_Missense_Mutation_p.G943D|SPTAN1_uc004bvn.3_Missense_Mutation_p.G943D	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	943	Spectrin 10.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						AGTGCCTACGGCAGCAGCATC	0.512													A	131349934	G	A	131349934	3	1	19	1	0	0	0	0	1	0	0	0	15116	1203	42	2	2902	2	SPTAN1	9	131349934	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	127025	131349934	9863497	1623	15922											
NUP188	23511	broad.mit.edu	37	chr9	131745643	131745643	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttaactgttttggctgCccgcaatccagcaaaggtga	10	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:131745643C>A	uc004bws.1	+	18	1890	c.1868C>A	c.(1867-1869)GCC>GAC	p.A623D	NUP188_uc004bwu.2_5'Flank	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	623					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						GTTTTGGCTGCCCGCAATCCA	0.393													A	131745643	C	A	131745643	3	1	19	1	0	0	0	0	1	0	0	0	10758	739	26	5	1938	5	NUP188	9	131745643	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	395709	131745643	9467788	1624	15923											
IER5L	389792	broad.mit.edu	37	chr9	131940298	131940298	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcttgcgcagggagatgcTgatcaggctctgggcgtcca	15	10	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:131940298T>C	uc010myt.1	-	1	243	c.34A>G	c.(34-36)AGC>GGC	p.S12G		NM_203434	NP_982258	Q5T953	IER5L_HUMAN	immediate early response 5-like	12											0		Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		AGGGAGATGCTGATCAGGCTC	0.667													C	131940298	T	C	131940298	3	2	19	1	0	0	0	0	1	0	0	0	7509	1580	55	3	1184	3	IER5L	9	131940298	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	194655	131940298	9273133	1625	15924											
ASS1	445	broad.mit.edu	37	chr9	133352330	133352330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaacacccctgacattctcGagatcgagttcaaaaaaggt	7	12	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:133352330G>A	uc004bzm.2	+	10	1026	c.670G>A	c.(670-672)GAG>AAG	p.E224K	ASS1_uc004bzn.2_Missense_Mutation_p.E224K|ASS1_uc010mza.2_Missense_Mutation_p.E300K|ASS1_uc004bzo.2_Missense_Mutation_p.E205K|ASS1_uc010mzb.2_Missense_Mutation_p.E262K|ASS1_uc004bzp.2_Missense_Mutation_p.E224K|ASS1_uc010mzc.2_Missense_Mutation_p.E224K	NM_000050	NP_000041	P00966	ASSY_HUMAN	argininosuccinate synthetase 1	224					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TGACATTCTCGAGATCGAGTT	0.567													A	133352330	G	A	133352330	3	1	19	1	0	0	0	0	1	0	0	0	1061	1059	37	1	700	1	ASS1	9	133352330	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1412032	133352330	7861101	1626	15925											
LAMC3	10319	broad.mit.edu	37	chr9	133927940	133927940	+	Frame_Shift_Del	DEL	C	C	-													tcatactgaccttccgggtgCcccccggggactccccactc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:133927939_133927939GC>G	uc004caa.1	+	9	1790	c.1692_1692GC>G	c.(1690-1692)gtgfs	p.V564fs		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	564	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCTTCCGGGTGCCCCCCGGGG	0.607											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	133927940	C	-	133927940	7	5	19	1	0	1	0	1	0	0	0	0	8616	739	26	0	1731	0	LAMC3	9	133927940	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	575610	133927940	7285491	1627	15926											
LAMC3	10319	broad.mit.edu	37	chr9	133952676	133952676	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accgtgcagcaagttggcgcAgatacagccccgtacctggc	12	14	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:133952676A>G	uc004caa.1	+	22	3830	c.3732A>G	c.(3730-3732)GCA>GCG	p.A1244A	LAMC3_uc010mze.1_5'Flank	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	1244	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AAGTTGGCGCAGATACAGCCC	0.617													G	133952676	A	G	133952676	2	3	19	1	0	0	0	0	0	0	0	1	8616	175	7	3		3	LAMC3	9	133952676	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	24736	133952676	7260755	1628	15927											
NUP214	8021	broad.mit.edu	37	chr9	134020113	134020113	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccttcccaccctcaaccTctgctgtcaaagtcaacctt	3	19	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:134020113T>C	uc004cag.2	+	12	1852	c.1741T>C	c.(1741-1743)TCT>CCT	p.S581P	NUP214_uc004cah.2_Missense_Mutation_p.S581P|NUP214_uc004cai.2_Missense_Mutation_p.S10P|NUP214_uc004caf.1_Missense_Mutation_p.S581P|NUP214_uc010mzf.2_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	581	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		ACCCTCAACCTCTGCTGTCAA	0.413			T	DEK|SET|ABL1	AML|T-ALL								C	134020113	T	C	134020113	3	2	19	1	0	0	0	0	1	0	0	0	10762	1551	54	3	1787	3	NUP214	9	134020113	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	67437	134020113	7193318	1629	15928											
NUP214	8021	broad.mit.edu	37	chr9	134073761	134073761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtccattgttgctcccgGcccatctgcagaggcagcag	11	15	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:134073761G>A	uc004cag.2	+	29	4991	c.4880G>A	c.(4879-4881)GGC>GAC	p.G1627D	NUP214_uc004cah.2_Missense_Mutation_p.G1617D|NUP214_uc004cai.2_Missense_Mutation_p.G1057D|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.G453D|NUP214_uc011mcf.1_Missense_Mutation_p.G404D|NUP214_uc010mzh.1_Missense_Mutation_p.G141D|NUP214_uc010mzi.1_Missense_Mutation_p.G141D	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	1627	Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GTTGCTCCCGGCCCATCTGCA	0.572			T	DEK|SET|ABL1	AML|T-ALL								A	134073761	G	A	134073761	3	1	19	1	0	0	0	0	1	0	0	0	10762	1203	42	2	4994	2	NUP214	9	134073761	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	53648	134073761	7139670	1630	15929											
SETX	23064	broad.mit.edu	37	chr9	135140330	135140330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcttaataatggcaccacGcttctgagcatcctgaatca	8	11	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:135140330G>A	uc004cbk.2	-	26	7513	c.7330C>T	c.(7330-7332)CGT>TGT	p.R2444C	SETX_uc004cbj.2_Missense_Mutation_p.R2092C|SETX_uc010mzt.2_Missense_Mutation_p.R2030C	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	2444					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATGGCACCACGCTTCTGAGCA	0.448													A	135140330	G	A	135140330	3	1	19	1	0	0	0	0	1	0	0	0	14141	1087	38	1	707	1	SETX	9	135140330	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1066569	135140330	6073101	1631	15930											
CEL	1056	broad.mit.edu	37	chr9	135942495	135942495	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggctgagaaggtgggttgCcctgtgggtgatgccgccag	19	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:135942495C>T	uc010naa.1	+	7	823	c.807C>T	c.(805-807)TGC>TGT	p.C269C		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	266					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		AGGTGGGTTGCCCTGTGGGTG	0.632													T	135942495	C	T	135942495	2	4	19	1	0	0	0	0	0	0	0	1	3209	747	26	2		2	CEL	9	135942495	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	802165	135942495	5270936	1632	15931											
RPL7A	6130	broad.mit.edu	37	chr9	136217103	136217103	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgttctaggagttaacAccgtcaccaccttggtggag	12	9	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:136217103A>G	uc004cde.1	+	5	454	c.424A>G	c.(424-426)ACC>GCC	p.T142A	MED22_uc004cdc.2_5'Flank|MED22_uc004cdd.2_5'Flank|RPL7A_uc004cdf.1_5'UTR|SNORD36A_uc010naj.2_5'Flank|SNORD36C_uc010nak.2_5'Flank	NM_000972	NP_000963	P62424	RL7A_HUMAN	ribosomal protein L7a	142					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome				0				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		AGGAGTTAACACCGTCACCAC	0.522													G	136217103	A	G	136217103	3	3	19	1	0	0	0	0	1	0	0	0	13600	159	6	3	442	3	RPL7A	9	136217103	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	274608	136217103	4996328	1633	15932											
C9orf96	169436	broad.mit.edu	37	chr9	136256568	136256568	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatggaatattcgtgcggaGgaaggtggcaggggctcccc	16	8	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:136256568G>T	uc004cdk.2	+	7	640	c.579G>T	c.(577-579)GAG>GAT	p.E193D	C9orf96_uc004cdl.2_Intron	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	193	Protein kinase.						ATP binding|protein kinase activity			stomach(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TTCGTGCGGAGGAAGGTGGCA	0.562													T	136256568	G	T	136256568	3	4	19	1	0	0	0	0	1	0	0	0	2508	991	35	5	605	5	C9orf96	9	136256568	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	39465	136256568	4956863	1634	15933											
VAV2	7410	broad.mit.edu	37	chr9	136671273	136671273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacggacacgtcgatggcccTcaggaagctgtgatgcacct	12	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:136671273T>C	uc004ces.2	-	9	812	c.766A>G	c.(766-768)AGG>GGG	p.R256G	VAV2_uc004cer.2_Missense_Mutation_p.R251G	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	256	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TCGATGGCCCTCAGGAAGCTG	0.622													C	136671273	T	C	136671273	3	2	19	1	0	0	0	0	1	0	0	0	17129	1550	54	3	1958	3	VAV2	9	136671273	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	414705	136671273	4542158	1635	15934											
COL5A1	1289	broad.mit.edu	37	chr9	137623460	137623460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgaccccaccagctccccgtCggagatcgggccgggaatgc	13	17	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:137623460C>T	uc004cfe.2	+	8	1665	c.1283C>T	c.(1282-1284)TCG>TTG	p.S428L		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	428	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGCTCCCCGTCGGAGATCGGG	0.562													T	137623460	C	T	137623460	3	4	19	1	0	0	0	0	1	0	0	0	3696	893	31	1	1313	1	COL5A1	9	137623460	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	952187	137623460	3589971	1636	15935											
GLT6D1	360203	broad.mit.edu	37	chr9	138516095	138516095	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaaccatcaagttgccatAatagaaatctccctgtccaa	4	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:138516095A>G	uc010nbd.1	-	5	933	c.679T>C	c.(679-681)TAT>CAT	p.Y227H		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	227	Lumenal (Potential).				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			ovary(1)	1		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		AAGTTGCCATAATAGAAATCT	0.443													G	138516095	A	G	138516095	3	3	19	1	0	0	0	0	1	0	0	0	6468	362	13	3	155	3	GLT6D1	9	138516095	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	892635	138516095	2697336	1637	15936											
KCNT1	57582	broad.mit.edu	37	chr9	138594206	138594206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtttgacgacggccaatgCgcccccaggtacagtctgct	12	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:138594206C>T	uc011mdq.1	+	1	176	c.102C>T	c.(100-102)TGC>TGT	p.C34C	KCNT1_uc011mdr.1_5'UTR|KCNT1_uc010nbf.2_Silent_p.C34C|SOHLH1_uc010nbe.2_5'Flank|SOHLH1_uc004cgl.2_5'Flank	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	34						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACGGCCAATGCGCCCCCAGGT	0.502													T	138594206	C	T	138594206	2	4	19	1	0	0	0	0	0	0	0	1	8091	776	27	1		1	KCNT1	9	138594206	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	78111	138594206	2619225	1638	15937											
KCNT1	57582	broad.mit.edu	37	chr9	138662709	138662709	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcctctgcccaggtatggCgtgtgcctcatcgggctgaa	14	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:138662709C>T	uc011mdq.1	+	18	1850	c.1776C>T	c.(1774-1776)GGC>GGT	p.G592G	KCNT1_uc011mdr.1_Silent_p.G419G|KCNT1_uc010nbf.2_Silent_p.G547G|KCNT1_uc004cgo.1_Silent_p.G341G	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	592						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCAGGTATGGCGTGTGCCTCA	0.652													T	138662709	C	T	138662709	2	4	19	1	0	0	0	0	0	0	0	1	8091	755	27	1		1	KCNT1	9	138662709	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	68503	138662709	2550722	1639	15938											
KCNT1	57582	broad.mit.edu	37	chr9	138676625	138676625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatgaaaatcaccgagggcGacctgtggatccgcacgtac	12	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:138676625G>A	uc011mdq.1	+	27	3120	c.3046G>A	c.(3046-3048)GAC>AAC	p.D1016N	KCNT1_uc011mdr.1_Missense_Mutation_p.D843N|KCNT1_uc010nbf.2_Missense_Mutation_p.D971N|KCNT1_uc004cgo.1_Missense_Mutation_p.D765N	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1016						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CACCGAGGGCGACCTGTGGAT	0.637													A	138676625	G	A	138676625	3	1	19	1	0	0	0	0	1	0	0	0	8091	1058	37	1	3152	1	KCNT1	9	138676625	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	13916	138676625	2536806	1640	15939											
QSOX2	169714	broad.mit.edu	37	chr9	139100687	139100687	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtacagcacgacacagagacTcatgtccaggctggagaagt	12	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:139100687T>A	uc010nbi.2	-	12	2022	c.1984A>T	c.(1984-1986)AGT>TGT	p.S662C		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2 precursor	662	Helical; (Potential).				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			ovary(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		ACACAGAGACTCATGTCCAGG	0.612													A	139100687	T	A	139100687	3	1	19	1	0	0	0	0	1	0	0	0	12884	1551	54	5	116	5	QSOX2	9	139100687	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	424062	139100687	2112744	1641	15940											
NOTCH1	4851	broad.mit.edu	37	chr9	139395173	139395173	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgtgcggtctgtctggTtgtgcaggctggcgccctgg	17	13	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:139395173T>C	uc004chz.2	-	31	5765	c.5765A>G	c.(5764-5766)AAC>AGC	p.N1922S		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1922	Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCTGTCTGGTTGTGCAGGCT	0.692			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			C	139395173	T	C	139395173	3	2	19	1	0	0	0	0	1	0	0	0	10547	1725	60	3	1918	3	NOTCH1	9	139395173	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	294486	139395173	1818258	1642	15941											
NOTCH1	4851	broad.mit.edu	37	chr9	139397686	139397686	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgcccagcgaggcgagCgctcccaggaatgcggccac	15	15	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:139397686C>T	uc004chz.2	-	27	5115	c.5115G>A	c.(5113-5115)GCG>GCA	p.A1705A	NOTCH1_uc004cia.1_Silent_p.A935A	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1705	Extracellular (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.G1705*(1)		haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGAGGCGAGCGCTCCCAGGA	0.647			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			T	139397686	C	T	139397686	2	4	19	1	0	0	0	0	0	0	0	1	10547	755	27	1		1	NOTCH1	9	139397686	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2513	139397686	1815745	1643	15942											
MAN1B1	11253	broad.mit.edu	37	chr9	139995548	139995548	+	Frame_Shift_Del	DEL	G	G	-													gagagcacgatccgcatcctGggggggctcctgagtgccta							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:139995547_139995547TG>T	uc004cld.2	+	6	1042	c.1007_1007TG>T	c.(1006-1008)ctgfs	p.L336fs	MAN1B1_uc004clc.2_Frame_Shift_Del_p.L237fs|MAN1B1_uc011meo.1_Frame_Shift_Del_p.L237fs|MAN1B1_uc011mep.2_Frame_Shift_Del_p.L336fs|MAN1B1_uc010ncc.2_Non-coding_Transcript|MAN1B1_uc004clf.1_5'Flank	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	Homo sapiens mannosidase, alpha, class 1B, member 1 (MAN1B1), transcript variant 1, mRNA.	336					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		ATCCGCATCCTGGGGGGGCTC	0.542													-	139995548	G	-	139995548	7	5	19	1	0	1	0	1	0	0	0	0	9212	1335	47	0	1034	0	MAN1B1	9	139995548	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	597862	139995548	1217883	1644	15943											
TPRN	286262	broad.mit.edu	37	chr9	140093527	140093527	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatctcatgcacggtggggTagcgcttcttcaacgtgggc	14	11	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:140093527T>C	uc004clt.2	-	1	1454	c.1454A>G	c.(1453-1455)TAC>TGC	p.Y485C	TPRN_uc004clu.2_Missense_Mutation_p.Y485C	NM_173691	NP_775962	Q4KMQ1	TPRN_HUMAN	hypothetical protein LOC286262 isoform 2	546					sensory perception of sound	stereocilium					0						CACGGTGGGGTAGCGCTTCTT	0.632													C	140093527	T	C	140093527	3	2	19	1	0	0	0	0	1	0	0	0	16418	1638	57	3	594	3	TPRN	9	140093527	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	97979	140093527	1119904	1645	15944											
NDOR1	27158	broad.mit.edu	37	chr9	140110812	140110812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagcccggacgcagccGcgtatctagccaggctccag	12	16	2	0	rs143421840		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:140110812G>A	uc004clw.2	+	14	1849	c.1738G>A	c.(1738-1740)GCG>ACG	p.A580T	NDOR1_uc004clx.2_Missense_Mutation_p.A589T|NDOR1_uc011mes.1_Missense_Mutation_p.A573T|NDOR1_uc004cly.2_3'UTR	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	580					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGACGCAGCCGCGTATCTAGC	0.672													A	140110812	G	A	140110812	3	1	19	1	0	0	0	0	1	0	0	0	10249	1087	38	1	1819	1	NDOR1	9	140110812	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	17285	140110812	1102619	1646	15945											
PNPLA7	375775	broad.mit.edu	37	chr9	140435173	140435173	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaccacctcggtgccgTcctgcgcttggagagcagag	12	15	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:140435173T>C	uc004cnf.2	-	7	930	c.593A>G	c.(592-594)GAC>GGC	p.D198G	PNPLA7_uc010ncj.1_Missense_Mutation_p.D223G	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	198	cNMP 1.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CTCGGTGCCGTCCTGCGCTTG	0.701													C	140435173	T	C	140435173	3	2	19	1	0	0	0	0	1	0	0	0	12170	1681	58	3	3472	3	PNPLA7	9	140435173	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	324361	140435173	778258	1647	15946											
CACNA1B	774	broad.mit.edu	37	chr9	140952269	140952269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttcactacgacaatgtgCtctgggctctgctgacgctg	10	12	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:140952269C>T	uc004cog.2	+	27	4199	c.4054C>T	c.(4054-4056)CTC>TTC	p.L1352F	CACNA1B_uc011mfd.1_Missense_Mutation_p.L882F|CACNA1B_uc004coi.2_Missense_Mutation_p.L566F	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1352	III.|Extracellular (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CGACAATGTGCTCTGGGCTCT	0.552													T	140952269	C	T	140952269	3	4	19	1	0	0	0	0	1	0	0	0	2539	797	28	2	4160	2	CACNA1B	9	140952269	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	517096	140952269	261162	1648	15947											
CACNA1B	774	broad.mit.edu	37	chr9	141016157	141016157	+	Frame_Shift_Del	DEL	C	C	-													aacgccctgctgcagagagaCcccctcagccagcccctggc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:141016156_141016156AC>A	uc004cog.3	+	45	6864	c.6719_6719AC>A	c.(6718-6720)gacfs	p.D2240fs	CACNA1B_uc022bqn.1_Frame_Shift_Del_p.T2178fs|CACNA1B_uc004coi.3_Frame_Shift_Del_p.D1454fs	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	2242					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTGCAGAGAGACCCCCTCAGC	0.672													-	141016157	C	-	141016157	7	5	19	1	0	1	0	1	0	0	0	0	2539	506	18	0	6908	0	CACNA1B	9	141016157	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	63888	141016157	197274	1649	15948											
DIP2C	22982	broad.mit.edu	37	chr10	410319	410319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaacgccactgaccttccCcggtagacaaacttcatggg	9	14	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:410319C>T	uc001ifp.2	-	20	2562	c.2472G>A	c.(2470-2472)CGG>CGA	p.R824R	DIP2C_uc009xhi.1_Silent_p.R210R|DIP2C_uc010pzz.1_Silent_p.R145R	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	824						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGACCTTCCCCGGTAGACAA	0.522													T	410319	C	T	410319	2	4	19	1	0	0	0	0	0	0	0	1	4529	610	22	4		4	DIP2C	10	410319	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08		410319	135124428	1650	15949											
DIP2C	22982	broad.mit.edu	37	chr10	445160	445160	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggggaacaccagtgccacCtgtgggacaggccagagcgg	16	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:445160C>A	uc001ifp.2	-	10	1240	c.1150_splice	c.e10-1	p.V384_splice	DIP2C_uc009xhj.1_Splice_Site_p.V80_splice	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C							nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCAGTGCCACCTGTGGGACAG	0.627													A	445160	C	A	445160	5	1	19	1	0	0	0	0	0	0	1	0	4529	695	24	5	3633	5	DIP2C	10	445160	Splice_Site	SNP	C	TCGA-BR-4361-01A-01D-1158-08	34841	445160	135089587	1651	15950											
LARP4B	23185	broad.mit.edu	37	chr10	888953	888953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaccgttgtgattggcaCatactggtcactatccatct	8	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:888953C>T	uc001ifs.1	-	6	606	c.565G>A	c.(565-567)GTG>ATG	p.V189M		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	189	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						GTGATTGGCACATACTGGTCA	0.383													T	888953	C	T	888953	3	4	19	1	0	0	0	0	1	0	0	0	8631	478	17	4	1699	4	LARP4B	10	888953	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	443793	888953	134645794	1652	15951											
PFKP	5214	broad.mit.edu	37	chr10	3147695	3147695	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtcaaactctcggaggTaatgcgggtcccgtggccgt	15	10	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:3147695T>C	uc001igp.2	+	7	810	c.774_splice	c.e7+2	p.E258_splice	PFKP_uc001igq.2_Splice_Site_p.E250_splice|PFKP_uc009xhr.2_Splice_Site_p.E220_splice|PFKP_uc009xhs.1_Splice_Site_p.E42_splice|PFKP_uc009xht.2_5'Flank	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet						glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTCTCGGAGGTAATGCGGGTC	0.547													C	3147695	T	C	3147695	5	2	19	1	0	0	0	0	0	0	1	0	11766	1652	57	3	802	3	PFKP	10	3147695	Splice_Site	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2258742	3147695	132387052	1653	15952											
AKR1C4	1109	broad.mit.edu	37	chr10	5254588	5254588	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcatctaaaggtagaatgtCatccttacctcaaccagagc	6	11	4	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:5254588C>T	uc001ihw.2	+	6	613	c.580C>T	c.(580-582)CAT>TAT	p.H194Y		NM_001818	NP_001809	P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	194					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			ovary(1)	1					NADH(DB00157)	GGTAGAATGTCATCCTTACCT	0.353													T	5254588	C	T	5254588	3	4	19	1	0	0	0	0	1	0	0	0	472	826	29	4	602	4	AKR1C4	10	5254588	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2106893	5254588	130280159	1654	15953											
C10orf18	54906	broad.mit.edu	37	chr10	5781988	5781988	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttagccaagatgaagaaAgcttggttccttgtagtcag	11	7	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:5781988A>G	uc001iij.2	+	13	2480	c.1855A>G	c.(1855-1857)AGC>GGC	p.S619G	C10orf18_uc001iik.2_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	619										ovary(1)|central_nervous_system(1)	2						AGATGAAGAAAGCTTGGTTCC	0.418													G	5781988	A	G	5781988	3	3	19	1	0	0	0	0	1	0	0	0	1596	72	3	3	1893	3	C10orf18	10	5781988	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	527400	5781988	129752759	1655	15954											
C10orf18	54906	broad.mit.edu	37	chr10	5788345	5788345	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgatgggcctggcagtcaGccagtgatatgtcagagctc	13	10	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:5788345G>A	uc001iij.2	+	15	3586	c.2961G>A	c.(2959-2961)CAG>CAA	p.Q987Q	C10orf18_uc001iik.2_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	987										ovary(1)|central_nervous_system(1)	2						CTGGCAGTCAGCCAGTGATAT	0.463													A	5788345	G	A	5788345	2	1	19	1	0	0	0	0	0	0	0	1	1596	962	34	2		2	C10orf18	10	5788345	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	6357	5788345	129746402	1656	15955											
C10orf18	54906	broad.mit.edu	37	chr10	5788629	5788629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaacctttaagaaggagtTgattaagcaagtatcacctg	8	7	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:5788629T>C	uc001iij.2	+	15	3870	c.3245T>C	c.(3244-3246)TTG>TCG	p.L1082S	C10orf18_uc001iik.2_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	1082										ovary(1)|central_nervous_system(1)	2						AAGAAGGAGTTGATTAAGCAA	0.433													C	5788629	T	C	5788629	3	2	19	1	0	0	0	0	1	0	0	0	1596	1821	63	3	3291	3	C10orf18	10	5788629	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	284	5788629	129746118	1657	15956											
ANKRD16	54522	broad.mit.edu	37	chr10	5925938	5925938	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccatttttataccccatgTtcatcgaggagcagcctagc	7	12	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:5925938T>C	uc010qat.1	-	4	1224	c.681A>G	c.(679-681)GAA>GAG	p.E227E	ANKRD16_uc009xie.2_Silent_p.E227E|ANKRD16_uc009xif.2_Silent_p.E227E|ANKRD16_uc001iiq.2_Silent_p.E227E	NM_019046	NP_061919	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16 isoform a	227	ANK 6.										0						ATACCCCATGTTCATCGAGGA	0.373													C	5925938	T	C	5925938	2	2	19	1	0	0	0	0	0	0	0	1	645	1722	60	3		3	ANKRD16	10	5925938	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	137309	5925938	129608809	1658	15957											
FBXO18	84893	broad.mit.edu	37	chr10	5963252	5963252	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtggaaatagcttatgTgggagctactatcttggatg	14	4	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:5963252T>C	uc001iis.2	+	14	2227	c.2132T>C	c.(2131-2133)GTG>GCG	p.V711A	FBXO18_uc001iir.2_Missense_Mutation_p.V637A|FBXO18_uc009xig.2_Missense_Mutation_p.V637A|FBXO18_uc001iit.2_Missense_Mutation_p.V762A	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	711					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						ATAGCTTATGTGGGAGCTACT	0.453													C	5963252	T	C	5963252	3	2	19	1	0	0	0	0	1	0	0	0	5731	1696	59	3	2348	3	FBXO18	10	5963252	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	37314	5963252	129571495	1659	15958											
PFKFB3	5209	broad.mit.edu	37	chr10	6257276	6257276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaggaagccatgaaagtcCggaagtaaggctgggccgcg	16	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:6257276C>T	uc001ije.2	+	3	679	c.295C>T	c.(295-297)CGG>TGG	p.R99W	PFKFB3_uc001ijd.2_Missense_Mutation_p.R79W|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Missense_Mutation_p.R113W|PFKFB3_uc001ijf.2_Missense_Mutation_p.R99W	NM_004566	NP_004557	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,	99	6-phosphofructo-2-kinase.	Fructose-6-phosphate (By similarity).			fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(2)|central_nervous_system(1)	3						CATGAAAGTCCGGAAGTAAgg	0.299													T	6257276	C	T	6257276	3	4	19	1	0	0	0	0	1	0	0	0	11762	643	23	1	325	1	PFKFB3	10	6257276	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	294024	6257276	129277471	1660	15959											
USP6NL	9712	broad.mit.edu	37	chr10	11535138	11535138	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaacaccatatctgtctctAaacataatgtggtcccgaaa	5	10	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:11535138A>G	uc001ikt.3	-	8	795	c.474T>C	c.(472-474)TTT>TTC	p.F158F	USP6NL_uc001iks.1_Silent_p.F175F	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	158	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0						ATCTGTCTCTAAACATAATGT	0.338													G	11535138	A	G	11535138	2	3	19	1	0	0	0	0	0	0	0	1	17084	359	13	3		3	USP6NL	10	11535138	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	5277862	11535138	123999609	1661	15960											
OPTN	10133	broad.mit.edu	37	chr10	13166057	13166057	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttaaggagcttcaagaGgctcatacaaaactcagcaa	8	9	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:13166057G>T	uc001ilu.1	+	10	1383	c.945G>T	c.(943-945)GAG>GAT	p.E315D	OPTN_uc001ilv.1_Missense_Mutation_p.E315D|OPTN_uc001ilw.1_Missense_Mutation_p.E315D|OPTN_uc001ilx.1_Missense_Mutation_p.E315D|OPTN_uc001ily.1_Missense_Mutation_p.E309D|OPTN_uc010qbr.1_Missense_Mutation_p.E258D|OPTN_uc001ilz.1_Missense_Mutation_p.E309D	NM_001008213	NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	315	Potential.				cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			ovary(2)	2						AGCTTCAAGAGGCTCATACAA	0.383													T	13166057	G	T	13166057	3	4	19	1	0	0	0	0	1	0	0	0	10889	991	35	5	971	5	OPTN	10	13166057	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1630919	13166057	122368690	1662	15961											
PHYH	5264	broad.mit.edu	37	chr10	13337526	13337526	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatatcggcatcaggtacaAgatttttgattactagaaac	8	6	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:13337526A>G	uc001imf.2	-	3	303	c.215T>C	c.(214-216)CTT>CCT	p.L72P	PHYH_uc001ime.2_5'UTR|PHYH_uc001img.2_Missense_Mutation_p.L53P	NM_006214	NP_006205	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase isoform a precursor	72					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding				0		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	ATCAGGTACAAGATTTTTGAT	0.333													G	13337526	A	G	13337526	3	3	19	1	0	0	0	0	1	0	0	0	11864	72	3	3	829	3	PHYH	10	13337526	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	171469	13337526	122197221	1663	15962											
CDNF	441549	broad.mit.edu	37	chr10	14862077	14862078	+	Frame_Shift_Ins	INS	-	-	C													gcacaggccctgcactcctcINScccccagctatgcaggatct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:14862076_14862077T>TC	uc001inb.1	-	3	504_505	c.466_467A>GA	c.(466-468)gagfs	p.E156fs	CDNF_uc010qbv.1_3'UTR|CDNF_uc001inc.1_Frame_Shift_Ins_p.E47fs	NM_001029954	NP_001025125	Q49AH0	CDNF_HUMAN	Homo sapiens cerebral dopamine neurotrophic factor (CDNF), mRNA.	156						extracellular region	growth factor activity			breast(2)|large_intestine(2)|lung(1)	5						CCTGCACTCCTCCCCCCAGCTA	0.495													C	14862078	-	C	14862077	7	5	19	1	0	1	1	0	0	0	0	0	3168	864	30	0	101	0	CDNF	10	14862077	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	1524551	14862077	120672670	1664	15963											
DCLRE1C	64421	broad.mit.edu	37	chr10	14950433	14950433	+	Frame_Shift_Del	DEL	T	T	-													atctaagagtgagcattttcTttttttgactgctatactct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:14950433delT	uc001inn.2	-	14	2138	c.2053delA	c.(2053-2055)AGAfs	p.R685fs	DCLRE1C_uc010qbx.1_Intron|DCLRE1C_uc001ink.2_Frame_Shift_Del_p.R338fs|DCLRE1C_uc001inl.2_Frame_Shift_Del_p.R565fs|DCLRE1C_uc009xji.2_Frame_Shift_Del_p.R570fs|DCLRE1C_uc001inm.2_Frame_Shift_Del_p.R565fs|DCLRE1C_uc001ino.2_Frame_Shift_Del_p.R570fs|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Frame_Shift_Del_p.R565fs|DCLRE1C_uc001inq.2_Frame_Shift_Del_p.R565fs|DCLRE1C_uc001inr.2_Frame_Shift_Del_p.R570fs	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	artemis protein isoform a	685					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)	1						GAGCATTTTCTTTTTTTGACT	0.269								Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ					-	14950433	T	-	14950433	7	5	19	1	0	1	0	1	0	0	0	0	4296	1617	56	0	29	0	DCLRE1C	10	14950433	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	88356	14950433	120584314	1665	15964											
FAM171A1	221061	broad.mit.edu	37	chr10	15325918	15325918	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggggcagagtttggcacgTaggcatgcttcgaggcggtg	18	7	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:15325918T>C	uc001iob.2	-	2	291	c.284A>G	c.(283-285)TAC>TGC	p.Y95C		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	95	Extracellular (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						GTTTGGCACGTAGGCATGCTT	0.493													C	15325918	T	C	15325918	3	2	19	1	0	0	0	0	1	0	0	0	5490	1638	57	3	2416	3	FAM171A1	10	15325918	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	375485	15325918	120208829	1666	15965											
ITGA8	8516	broad.mit.edu	37	chr10	15720763	15720763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcttggcagtaaccctgGccttccggatcagcattgcc	10	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:15720763G>A	uc001ioc.1	-	5	588	c.588C>T	c.(586-588)GGC>GGT	p.G196G	ITGA8_uc010qcb.1_Silent_p.G196G	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	196	FG-GAP 3.|Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						AGTAACCCTGGCCTTCCGGAT	0.328													A	15720763	G	A	15720763	2	1	19	1	0	0	0	0	0	0	0	1	7882	1190	42	2		2	ITGA8	10	15720763	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	394845	15720763	119813984	1667	15966											
FAM188A	80013	broad.mit.edu	37	chr10	15875660	15875660	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactctctatcaccatcccaTacattagaaacagcatgtcc	3	15	2	1	rs150118445		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:15875660T>C	uc001iod.1	-	8	920	c.699A>G	c.(697-699)GTA>GTG	p.V233V	FAM188A_uc001ioe.1_Silent_p.V60V|FAM188A_uc001iof.1_Silent_p.V233V	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	chromosome 10 open reading frame 97	233					apoptosis	nucleus	calcium ion binding			ovary(1)	1						CACCATCCCATACATTAGAAA	0.279													C	15875660	T	C	15875660	2	2	19	1	0	0	0	0	0	0	0	1	5514	1393	49	3		3	FAM188A	10	15875660	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	154897	15875660	119659087	1668	15967											
CUBN	8029	broad.mit.edu	37	chr10	16967691	16967691	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaccaggacgtgccaagaAcagttgaggttggatgggta	16	6	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:16967691A>G	uc001ioo.2	-	42	6406	c.6354T>C	c.(6352-6354)TGT>TGC	p.C2118C		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2118	CUB 15.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGTGCCAAGAACAGTTGAGGT	0.493													G	16967691	A	G	16967691	2	3	19	1	0	0	0	0	0	0	0	1	4051	41	2	3		3	CUBN	10	16967691	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1092031	16967691	118567056	1669	15968											
PLXDC2	84898	broad.mit.edu	37	chr10	20453414	20453414	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagattcctgtcttggtcacAcagataagttcaaccaatca	6	11	4	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:20453414A>G	uc001iqg.1	+	7	1438	c.801A>G	c.(799-801)ACA>ACG	p.T267T	PLXDC2_uc001iqh.1_Silent_p.T218T|PLXDC2_uc009xkc.1_RNA	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	267	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						TCTTGGTCACACAGATAAGTT	0.418													G	20453414	A	G	20453414	2	3	19	1	0	0	0	0	0	0	0	1	12118	146	6	3		3	PLXDC2	10	20453414	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3485723	20453414	115081333	1670	15969											
C10orf140	387640	broad.mit.edu	37	chr10	21805019	21805019	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctttgggctaggtgaagagGccccctctgccaggcagtta	13	11	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:21805019G>C	uc009xkd.2	-	4	3986	c.1733C>G	c.(1732-1734)GCC>GGC	p.A578G	uc001iqp.1_Intron	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	hypothetical protein LOC387640	497						nucleus	nucleotide binding			ovary(1)	1						AGGTGAAGAGGCCCCCTCTGC	0.443													C	21805019	G	C	21805019	3	2	19	1	0	0	0	0	1	0	0	0	1595	1203	42	5	997	5	C10orf140	10	21805019	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1351605	21805019	113729728	1671	15970											
DNAJC1	64215	broad.mit.edu	37	chr10	22048437	22048437	+	Frame_Shift_Del	DEL	C	C	-													ctgctcctcctccgctgccaCcccctctgcgtcctctcgct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:22048437delC	uc001irc.2	-	11	1545	c.1258delG	c.(1258-1260)GTGfs	p.V420fs	DNAJC1_uc001ird.2_Frame_Shift_Del_p.V306fs	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	420	Cytoplasmic (By similarity).				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			lung(1)	1		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TCCGCTGCCACCCCCTCTGCG	0.642													-	22048437	C	-	22048437	7	5	19	1	0	1	0	1	0	0	0	0	4628	507	18	0	414	0	DNAJC1	10	22048437	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	243418	22048437	113486310	1672	15971											
ARHGAP21	57584	broad.mit.edu	37	chr10	24909045	24909045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaatttctgtttgactgCaatgtttttagatctggtgg	10	4	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:24909045C>T	uc001isb.2	-	9	2266	c.1779G>A	c.(1777-1779)TTG>TTA	p.L593L	ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Silent_p.L593L|ARHGAP21_uc010qdc.1_Silent_p.L428L|ARHGAP21_uc001isc.1_Silent_p.L583L	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	592					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						TGTTTGACTGCAATGTTTTTA	0.423													T	24909045	C	T	24909045	2	4	19	1	0	0	0	0	0	0	0	1	871	709	25	2		2	ARHGAP21	10	24909045	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2860608	24909045	110625702	1673	15972											
ARHGAP21	57584	broad.mit.edu	37	chr10	24910013	24910013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcacaatgacagtccttaCactttcattgcaaacacaca	5	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:24910013C>T	uc001isb.2	-	9	1298	c.811G>A	c.(811-813)GTA>ATA	p.V271I	ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.V271I|ARHGAP21_uc010qdc.1_Missense_Mutation_p.V106I|ARHGAP21_uc001isc.1_Missense_Mutation_p.V261I	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	270					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						ACAGTCCTTACACTTTCATTG	0.418													T	24910013	C	T	24910013	3	4	19	1	0	0	0	0	1	0	0	0	871	478	17	4	5137	4	ARHGAP21	10	24910013	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	968	24910013	110624734	1674	15973											
GAD2	2572	broad.mit.edu	37	chr10	26581462	26581462	+	Frame_Shift_Del	DEL	A	A	-													gagtatttatacaacatcatAaaaaaccgagaaggatatga							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:26581461_26581461TA>T	uc001isp.2	+	13	1957	c.1454_1454TA>T	c.(1453-1455)atafs	p.I485fs	GAD2_uc001isq.2_Frame_Shift_Del_p.I485fs	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	485					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.I484I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TACAACATCATAAAAAACCGA	0.398													-	26581462	A	-	26581462	7	5	19	1	0	1	0	1	0	0	0	0	6180	352	13	0	1509	0	GAD2	10	26581462	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	1671449	26581462	108953285	1675	15974											
SVIL	6840	broad.mit.edu	37	chr10	29760116	29760116	+	Frame_Shift_Del	DEL	C	C	-													ctccccgagtgcaccaccatCcccccctggaaacactgcag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:29760115_29760115TC>T	uc001iut.1	-	30	6340	c.5587_5587GA>A	c.(5587-5589)atgfs	p.M1863fs	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Frame_Shift_Del_p.M777fs|SVIL_uc001iuu.1_Frame_Shift_Del_p.M1437fs	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1863					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCACCACCATCCCCCCCTGG	0.527													-	29760116	C	-	29760116	7	5	19	1	0	1	0	1	0	0	0	0	15418	842	30	0	1090	0	SVIL	10	29760116	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	3178654	29760116	105774631	1676	15975											
KIAA1462	57608	broad.mit.edu	37	chr10	30315149	30315149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcccaatctctgggcacGgtccccactgccaggagaca	12	15	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:30315149G>A	uc001iux.2	-	2	3987	c.3928C>T	c.(3928-3930)CGT>TGT	p.R1310C	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.R1172C|KIAA1462_uc009xle.1_Missense_Mutation_p.R1310C	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	1310										ovary(4)	4						CTCTGGGCACGGTCCCCACTG	0.617													A	30315149	G	A	30315149	3	1	19	1	0	0	0	0	1	0	0	0	8234	1116	39	1	159	1	KIAA1462	10	30315149	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	555033	30315149	105219598	1677	15976											
MTPAP	55149	broad.mit.edu	37	chr10	30615351	30615351	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taataaatgtaagcggtcatAcctattgttcgtagtcaaat	7	6	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:30615351A>G	uc001iva.3	-	5	1055	c.992_splice	c.e5+1	p.R331_splice	MTPAP_uc001ivb.3_Splice_Site_p.R461_splice	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	PAP associated domain containing 1 precursor						cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			ovary(1)	1						AAGCGGTCATACCTATTGTTC	0.388													G	30615351	A	G	30615351	5	3	19	1	0	0	0	0	0	0	1	0	9956	405	14	3	774	3	MTPAP	10	30615351	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	300202	30615351	104919396	1678	15977											
ZNF438	220929	broad.mit.edu	37	chr10	31134236	31134236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgattcctcggaggaggaaTgaaccttctccggcttccct	11	12	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:31134236T>C	uc010qdz.1	-	8	2576	c.2141A>G	c.(2140-2142)CAT>CGT	p.H714R	ZNF438_uc001ivn.2_Missense_Mutation_p.H665R|ZNF438_uc010qdy.1_Missense_Mutation_p.H704R|ZNF438_uc001ivo.3_Missense_Mutation_p.H278R|ZNF438_uc009xlg.2_Missense_Mutation_p.H714R|ZNF438_uc001ivp.3_Missense_Mutation_p.H704R|ZNF438_uc010qea.1_Missense_Mutation_p.H714R|ZNF438_uc010qeb.1_Missense_Mutation_p.H714R	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	714					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				GGAGGAGGAATGAACCTTCTC	0.547													C	31134236	T	C	31134236	3	2	19	1	0	0	0	0	1	0	0	0	17907	1464	51	3	349	3	ZNF438	10	31134236	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	518885	31134236	104400511	1679	15978											
ZNF438	220929	broad.mit.edu	37	chr10	31138295	31138295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgacacttgtggaacagGtagcctgcttgccaccttgg	12	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:31138295G>A	uc010qdz.1	-	7	1474	c.1039C>T	c.(1039-1041)CCT>TCT	p.P347S	ZNF438_uc001ivn.2_Missense_Mutation_p.P298S|ZNF438_uc010qdy.1_Missense_Mutation_p.P337S|ZNF438_uc001ivo.3_5'UTR|ZNF438_uc009xlg.2_Missense_Mutation_p.P347S|ZNF438_uc001ivp.3_Missense_Mutation_p.P337S|ZNF438_uc010qea.1_Missense_Mutation_p.P347S|ZNF438_uc010qeb.1_Missense_Mutation_p.P347S|ZNF438_uc010qec.1_5'UTR	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				TGTGGAACAGGTAGCCTGCTT	0.488													A	31138295	G	A	31138295	3	1	19	1	0	0	0	0	1	0	0	0	17907	1261	44	4	1455	4	ZNF438	10	31138295	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	4059	31138295	104396452	1680	15979											
PARD3	56288	broad.mit.edu	37	chr10	34620079	34620079	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcatcatcatctaccgcGggtttatcataagatttgtc	6	10	6	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:34620079G>A	uc010qej.1	-	19	2808	c.2808C>T	c.(2806-2808)CCC>CCT	p.P936P	PARD3_uc010qek.1_Silent_p.P933P|PARD3_uc010qel.1_Silent_p.P936P|PARD3_uc010qem.1_Silent_p.P920P|PARD3_uc010qen.1_Silent_p.P890P|PARD3_uc010qeo.1_Silent_p.P890P|PARD3_uc010qep.1_Silent_p.P846P|PARD3_uc010qeq.1_Silent_p.P861P|PARD3_uc001ixo.1_Silent_p.P649P|PARD3_uc001ixp.1_Silent_p.P767P|PARD3_uc001ixq.1_Silent_p.P890P|PARD3_uc001ixr.1_Silent_p.P933P|PARD3_uc001ixt.1_Silent_p.P754P|PARD3_uc001ixu.1_Silent_p.P878P|PARD3_uc001ixs.1_Silent_p.P559P	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	936	Interacts with PRKCZ (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)				CATCTACCGCGGGTTTATCAT	0.388													A	34620079	G	A	34620079	2	1	19	1	0	0	0	0	0	0	0	1	11443	1103	39	1		1	PARD3	10	34620079	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3481784	34620079	100914668	1681	15980											
ZNF33A	7581	broad.mit.edu	37	chr10	38345137	38345137	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagaaaccctatgaatgCaatgaatgtgggaaattctt	12	5	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:38345137C>T	uc001izh.2	+	5	2260	c.2082C>T	c.(2080-2082)TGC>TGT	p.C694C	ZNF33A_uc001izg.2_Silent_p.C695C|ZNF33A_uc010qev.1_Silent_p.C701C|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	694	C2H2-type 14.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						CCTATGAATGCAATGAATGTG	0.383													T	38345137	C	T	38345137	2	4	19	1	0	0	0	0	0	0	0	1	17851	718	25	2		2	ZNF33A	10	38345137	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3725058	38345137	97189610	1682	15981											
ALOX5	240	broad.mit.edu	37	chr10	45891350	45891350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattctcaagcaacaccgaCgtaaagaactggaaacacgg	8	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:45891350C>T	uc001jce.2	+	3	496	c.397C>T	c.(397-399)CGT>TGT	p.R133C	ALOX5_uc009xmt.2_Missense_Mutation_p.R133C|ALOX5_uc010qfg.1_Missense_Mutation_p.R133C	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	133	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			ovary(1)|pancreas(1)	2		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GCAACACCGACGTAAAGAACT	0.448													T	45891350	C	T	45891350	3	4	19	1	0	0	0	0	1	0	0	0	540	536	19	1	407	1	ALOX5	10	45891350	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	7546213	45891350	89643397	1683	15982											
GDF2	2658	broad.mit.edu	37	chr10	48413624	48413624	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgccctcgtaatggtacTtgagggtgggcacccccatg	12	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:48413624T>C	uc001jfa.1	-	2	1407	c.1244A>G	c.(1243-1245)AAG>AGG	p.K415R		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	415					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3						GTAATGGTACTTGAGGGTGGG	0.612													C	48413624	T	C	48413624	3	2	19	1	0	0	0	0	1	0	0	0	6314	1609	56	3	49	3	GDF2	10	48413624	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2522274	48413624	87121123	1684	15983											
GDF2	2658	broad.mit.edu	37	chr10	48414131	48414131	+	Frame_Shift_Del	DEL	G	G	-													agggcaggtttctggaacctGgggggacactgatgtccagc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:48414131delG	uc001jfa.1	-	2	900	c.737delC	c.(736-738)CCAfs	p.P246fs		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	246					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3						TCTGGAACCTGGGGGGACACT	0.567													-	48414131	G	-	48414131	7	5	19	1	0	1	0	1	0	0	0	0	6314	1348	47	0	556	0	GDF2	10	48414131	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	507	48414131	87120616	1685	15984											
FRMPD2	143162	broad.mit.edu	37	chr10	49450347	49450347	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgcctgtgaggctggtcttCacacatggtcagcaggatgg	14	11	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:49450347C>T	uc001jgi.2	-	5	531	c.424G>A	c.(424-426)GAA>AAA	p.E142K	FRMPD2_uc001jgh.2_Missense_Mutation_p.E111K|FRMPD2_uc001jgj.2_Missense_Mutation_p.E120K	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	142	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		GGCTGGTCTTCACACATGGTC	0.612													T	49450347	C	T	49450347	3	4	19	1	0	0	0	0	1	0	0	0	6058	835	29	4	3605	4	FRMPD2	10	49450347	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1036216	49450347	86084400	1686	15985											
C10orf71	118461	broad.mit.edu	37	chr10	50531160	50531160	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaacttctgcttcgattcTgcctttctgacagtcaggag	9	11	5	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:50531160T>C	uc010qgp.1	+	3	909	c.570T>C	c.(568-570)TCT>TCC	p.S190S		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	190											0						GCTTCGATTCTGCCTTTCTGA	0.542													C	50531160	T	C	50531160	2	2	19	1	0	0	0	0	0	0	0	1	1614	1567	55	3		3	C10orf71	10	50531160	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1080813	50531160	85003587	1687	15986											
PGBD3	267004	broad.mit.edu	37	chr10	50723435	50723435	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taaggcaacatcacatttttCacatcgaaaagttgtgttct	6	8	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:50723435C>T	uc001jht.2	-	2	1981	c.1726G>A	c.(1726-1728)GAA>AAA	p.E576K	ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Missense_Mutation_p.E1044K|PGBD3_uc001jhu.2_Missense_Mutation_p.E1044K	NM_170753	NP_736609	Q8N328	PGBD3_HUMAN	hypothetical protein LOC267004	576										pancreas(1)|breast(1)|skin(1)	3						TCACATTTTTCACATCGAAAA	0.383													T	50723435	C	T	50723435	3	4	19	1	0	0	0	0	1	0	0	0	11782	835	29	4	59	4	PGBD3	10	50723435	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	192275	50723435	84811312	1688	15987											
SLC18A3	6572	broad.mit.edu	37	chr10	50820315	50820315	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtctggccaggacggcgAgcctcgcagcccgcctggcc	15	16	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:50820315A>T	uc001jhw.2	+	1	1969	c.1529A>T	c.(1528-1530)GAG>GTG	p.E510V	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	510	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						CAGGACGGCGAGCCTCGCAGC	0.647													T	50820315	A	T	50820315	3	4	19	1	0	0	0	0	1	0	0	0	14427	304	11	5	1531	5	SLC18A3	10	50820315	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	96880	50820315	84714432	1689	15988											
OGDHL	55753	broad.mit.edu	37	chr10	50954898	50954898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggccagcaaaggcggcGtccccatgaaccaggatgga	13	14	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:50954898G>A	uc001jie.2	-	10	1336	c.1194C>T	c.(1192-1194)GAC>GAT	p.D398D	OGDHL_uc009xog.2_Silent_p.D425D|OGDHL_uc010qgt.1_Silent_p.D341D|OGDHL_uc010qgu.1_Silent_p.D189D|OGDHL_uc009xoh.2_Silent_p.D189D	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	398					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						CAAAGGCGGCGTCCCCATGAA	0.632													A	50954898	G	A	50954898	2	1	19	1	0	0	0	0	0	0	0	1	10840	1136	40	1		1	OGDHL	10	50954898	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	134583	50954898	84579849	1690	15989											
MBL2	4153	broad.mit.edu	37	chr10	54527904	54527904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatatgacccttcagataGggaactcacagacggccaga	11	10	2	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:54527904G>A	uc001jjt.2	-	4	805	c.740C>T	c.(739-741)CCT>CTT	p.P247L		NM_000242	NP_000233	P11226	MBL2_HUMAN	soluble mannose-binding lectin precursor	247					acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			ovary(1)	1						CCTTCAGATAGGGAACTCACA	0.453													A	54527904	G	A	54527904	3	1	19	1	0	0	0	0	1	0	0	0	9350	1000	35	4	10	4	MBL2	10	54527904	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3573006	54527904	81006843	1691	15990											
IPMK	253430	broad.mit.edu	37	chr10	59986902	59986902	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagtcagcagcataaaccTgaaacagagaaatataacat	6	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:59986902T>C	uc001jkb.2	-	3	600	c.277_splice	c.e3-1	p.V93_splice		NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase							nucleus	ATP binding|inositol trisphosphate 6-kinase activity			ovary(1)	1						AGCATAAACCTGAAACAGAGA	0.358													C	59986902	T	C	59986902	5	2	19	1	0	0	0	0	0	0	1	0	7792	1594	55	3	991	3	IPMK	10	59986902	Splice_Site	SNP	T	TCGA-BR-4361-01A-01D-1158-08	5458998	59986902	75547845	1692	15991											
SLC16A9	220963	broad.mit.edu	37	chr10	61414085	61414085	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcctgcatttttcctcactActgtagctcttgtcaagaat	5	11	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:61414085A>G	uc010qig.1	-	5	1148	c.699T>C	c.(697-699)AGT>AGC	p.S233S		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	solute carrier family 16 (monocarboxylic acid	233	Extracellular (Potential).				urate metabolic process	integral to membrane|plasma membrane	symporter activity			skin(2)|ovary(1)	3						TTTCCTCACTACTGTAGCTCT	0.378													G	61414085	A	G	61414085	2	3	19	1	0	0	0	0	0	0	0	1	14415	388	14	3		3	SLC16A9	10	61414085	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1427183	61414085	74120662	1693	15992											
CCDC6	8030	broad.mit.edu	37	chr10	61564176	61564176	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagccaaagacatatgctcAccaggtgatataggcctgct	9	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:61564176A>G	uc001jks.3	-	7	1741	c.1105_splice	c.e7+1	p.G369_splice		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6							cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton			ovary(3)|breast(1)	4				Kidney(211;0.0597)		ACATATGCTCACCAGGTGATA	0.453													G	61564176	A	G	61564176	5	3	19	1	0	0	0	0	0	0	1	0	2830	173	6	3	329	3	CCDC6	10	61564176	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	150091	61564176	73970571	1694	15993											
ANK3	288	broad.mit.edu	37	chr10	61815518	61815518	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttcatactgacaggcacAcagggtttagtctcttctat	7	9	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:61815518A>G	uc001jky.2	-	42	13155	c.12963T>C	c.(12961-12963)TGT>TGC	p.C4321C	ANK3_uc001jkw.2_Silent_p.C945C|ANK3_uc009xpa.2_Silent_p.C945C|ANK3_uc001jkx.2_Silent_p.C989C|ANK3_uc010qih.1_Silent_p.C1812C|ANK3_uc001jkz.3_Silent_p.C1805C|ANK3_uc001jkv.2_Silent_p.C344C	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	4321					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TGACAGGCACACAGGGTTTAG	0.458													G	61815518	A	G	61815518	2	3	19	1	0	0	0	0	0	0	0	1	622	157	6	3		3	ANK3	10	61815518	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	251342	61815518	73719229	1695	15994											
ANK3	288	broad.mit.edu	37	chr10	61835896	61835896	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgtgacaccacagttttTatcggcgaagacattgtccg	10	9	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:61835896T>C	uc001jky.2	-	37	4935	c.4743A>G	c.(4741-4743)ATA>ATG	p.I1581M	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1581	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CCACAGTTTTTATCGGCGAAG	0.463													C	61835896	T	C	61835896	3	2	19	1	0	0	0	0	1	0	0	0	622	1744	61	3	8731	3	ANK3	10	61835896	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	20378	61835896	73698851	1696	15995											
ZNF365	22891	broad.mit.edu	37	chr10	64414648	64414648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagataaaaatccttgcctGcacggagcttaccttcagct	7	12	1	1	rs145414368	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:64414648G>A	uc001jmd.1	+	3	418	c.84G>A	c.(82-84)CTG>CTA	p.L28L	ZNF365_uc001jmc.2_Intron|ZNF365_uc001jme.1_RNA|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_RNA	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform D	28										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					atccttgcctgcacggagctt	0.01													A	64414648	G	A	64414648	2	1	19	1	0	0	0	0	0	0	0	1	17866	1306	46	2		2	ZNF365	10	64414648	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2578752	64414648	71120099	1697	15996											
EGR2	1959	broad.mit.edu	37	chr10	64573060	64573060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtacccccaggctgcacGcccccagagcaggaggctgt	14	15	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:64573060G>A	uc010qim.1	-	3	1492	c.1338C>T	c.(1336-1338)GGC>GGT	p.G446G	EGR2_uc010qin.1_Silent_p.G396G|EGR2_uc001jmi.2_Silent_p.G446G|EGR2_uc010qio.1_Silent_p.G459G|EGR2_uc009xph.2_Silent_p.G446G	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	446					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAGGCTGCACGCCCCCAGAGC	0.642													A	64573060	G	A	64573060	2	1	19	1	0	0	0	0	0	0	0	1	4972	1074	38	1		1	EGR2	10	64573060	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	158412	64573060	70961687	1698	15997											
JMJD1C	221037	broad.mit.edu	37	chr10	64966934	64966934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaggttcagtctcactggCattactacttttatactgag	7	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:64966934C>T	uc001jmn.2	-	10	4795	c.4495G>A	c.(4495-4497)GCC>ACC	p.A1499T	JMJD1C_uc001jml.2_Missense_Mutation_p.A1280T|JMJD1C_uc001jmm.2_Missense_Mutation_p.A1211T|JMJD1C_uc010qiq.1_Missense_Mutation_p.A1317T|JMJD1C_uc009xpi.2_Missense_Mutation_p.A1317T|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.A536T	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1499					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GTCTCACTGGCATTACTACTT	0.403													T	64966934	C	T	64966934	3	4	19	1	0	0	0	0	1	0	0	0	7950	710	25	2	3195	2	JMJD1C	10	64966934	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	393874	64966934	70567813	1699	15998											
JMJD1C	221037	broad.mit.edu	37	chr10	65140188	65140188	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagttgaaaaatcttcatAaactttaacccactctcgtt	4	9	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:65140188A>G	uc001jmn.2	-	2	523	c.223T>C	c.(223-225)TAT>CAT	p.Y75H	JMJD1C_uc009xpi.2_5'UTR|JMJD1C_uc001jmr.1_Missense_Mutation_p.Y75H	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	75					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAATCTTCATAAACTTTAACC	0.368													G	65140188	A	G	65140188	3	3	19	1	0	0	0	0	1	0	0	0	7950	362	13	3	7499	3	JMJD1C	10	65140188	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	173254	65140188	70394559	1700	15999											
HERC4	26091	broad.mit.edu	37	chr10	69682730	69682730	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgtgatcaatagcttggatCagtttagagcgtagagtttc	11	5	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:69682730C>T	uc001jng.3	-	26	3443	c.3132G>A	c.(3130-3132)CTG>CTA	p.L1044L	HERC4_uc009xpq.2_Silent_p.L576L|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Silent_p.L1036L|HERC4_uc009xpr.2_Silent_p.L966L|HERC4_uc001jni.3_Silent_p.L780L	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	1044	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						TAGCTTGGATCAGTTTAGAGC	0.348													T	69682730	C	T	69682730	2	4	19	1	0	0	0	0	0	0	0	1	7060	813	29	4		4	HERC4	10	69682730	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	4542542	69682730	65852017	1701	16000											
DNA2	1763	broad.mit.edu	37	chr10	70192211	70192211	+	Frame_Shift_Del	DEL	T	T	-													atggggtatctatatcacaaTttttttcttcttggtctaat							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:70192211delT	uc001jof.2	-	11	1961	c.1961delA	c.(1960-1962)AATfs	p.N654fs	DNA2_uc001jog.1_Frame_Shift_Del_p.N568fs|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	568					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						TATATCACAATTTTTTTCTTC	0.338													-	70192211	T	-	70192211	7	5	19	1	0	1	0	1	0	0	0	0	4596	1493	52	0	1523	0	DNA2	10	70192211	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	509481	70192211	65342536	1702	16001											
DNA2	1763	broad.mit.edu	37	chr10	70231557	70231557	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctccgctcacagctccgccGgcagctccgcctcctcccaa	7	22	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:70231557G>T	uc001jof.2	-	1	323	c.323C>A	c.(322-324)CCG>CAG	p.P108Q	DNA2_uc001jog.1_Missense_Mutation_p.P22Q|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	22					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						CAGCTCCGCCGGCAGCTCCGC	0.607													T	70231557	G	T	70231557	3	4	19	1	0	0	0	0	1	0	0	0	4596	1116	39	5	3201	5	DNA2	10	70231557	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	39346	70231557	65303190	1703	16002											
TET1	80312	broad.mit.edu	37	chr10	70406352	70406352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taattctcaggtacagttaaCggtgaatgccaatcagaaag	9	7	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:70406352C>T	uc001jok.3	+	4	4371	c.3866C>T	c.(3865-3867)ACG>ATG	p.T1289M		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1289					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						GTACAGTTAACGGTGAATGCC	0.453													T	70406352	C	T	70406352	3	4	19	1	0	0	0	0	1	0	0	0	15766	536	19	1	3876	1	TET1	10	70406352	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	174795	70406352	65128395	1704	16003											
STOX1	219736	broad.mit.edu	37	chr10	70644585	70644585	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgaagaatggcccgtcCgagatgaagatgacttggac	12	10	0	6			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:70644585C>T	uc001jos.2	+	3	1120	c.1033C>T	c.(1033-1035)CGA>TGA	p.R345*	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Nonsense_Mutation_p.R235*	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	345						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2						ATGGCCCGTCCGAGATGAAGA	0.423													T	70644585	C	T	70644585	4	4	19	1	0	0	0	0	0	1	0	0	15318	644	23	1	1043	1	STOX1	10	70644585	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	238233	70644585	64890162	1705	16004											
VPS26A	9559	broad.mit.edu	37	chr10	70930940	70930940	+	Frame_Shift_Del	DEL	A	A	-													tttatggagaaaagctcctgAaaaactgaggaaacagagaa							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:70930940delA	uc001jpb.2	+	9	1025	c.899delA	c.(898-900)GAAfs	p.E300fs	VPS26A_uc001jpc.2_Frame_Shift_Del_p.*252fs|VPS26A_uc009xqa.2_Frame_Shift_Del_p.E293fs|VPS26A_uc001jpd.2_Frame_Shift_Del_p.E189fs	NM_004896	NP_004887	O75436	VP26A_HUMAN	vacuolar protein sorting 26 A isoform 1	300					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity				0						AAAGCTCCTGAAAAACTGAGG	0.368													-	70930940	A	-	70930940	7	5	19	1	0	1	0	1	0	0	0	0	17194	259	9	0	933	0	VPS26A	10	70930940	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	286355	70930940	64603807	1706	16005											
HKDC1	80201	broad.mit.edu	37	chr10	71018574	71018574	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggaggacatgaggaacaTcgagatggtggaggggggtg	20	4	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:71018574T>C	uc001jpf.3	+	15	2208	c.2075T>C	c.(2074-2076)ATC>ACC	p.I692T	HKDC1_uc010qje.1_Missense_Mutation_p.I555T|HKDC1_uc009xqb.2_RNA	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	692					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5						ATGAGGAACATCGAGATGGTG	0.468													C	71018574	T	C	71018574	3	2	19	1	0	0	0	0	1	0	0	0	7193	1435	50	3	2133	3	HKDC1	10	71018574	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	87634	71018574	64516173	1707	16006											
COL13A1	1305	broad.mit.edu	37	chr10	71562400	71562400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaggcccgggtgctgcGcctggaagcggagcgcgggg	21	12	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:71562400G>A	uc001jpr.1	+	1	757	c.221G>A	c.(220-222)CGC>CAC	p.R74H	COL13A1_uc001jqj.1_Missense_Mutation_p.R74H|COL13A1_uc001jps.1_Missense_Mutation_p.R74H|COL13A1_uc001jpt.1_Missense_Mutation_p.R74H|COL13A1_uc001jpu.1_Missense_Mutation_p.R74H|COL13A1_uc001jpv.1_Missense_Mutation_p.R74H|COL13A1_uc001jpx.1_Missense_Mutation_p.R74H|COL13A1_uc001jpw.1_Missense_Mutation_p.R74H|COL13A1_uc001jpy.1_Missense_Mutation_p.R74H|COL13A1_uc001jpz.1_Missense_Mutation_p.R74H|COL13A1_uc001jqa.1_Missense_Mutation_p.R74H|COL13A1_uc001jqc.1_Missense_Mutation_p.R74H|COL13A1_uc001jqb.1_Missense_Mutation_p.R74H|COL13A1_uc001jql.2_Missense_Mutation_p.R74H|COL13A1_uc001jqd.1_Missense_Mutation_p.R74H|COL13A1_uc001jqe.1_Missense_Mutation_p.R74H|COL13A1_uc001jqf.1_Missense_Mutation_p.R74H|COL13A1_uc001jqg.1_Missense_Mutation_p.R74H|COL13A1_uc001jqh.1_Missense_Mutation_p.R74H|COL13A1_uc001jqi.1_Missense_Mutation_p.R74H	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN	alpha 1 type XIII collagen isoform 1	74	Extracellular (Potential).|Nonhelical region 1 (NC1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)	CGGGTGCTGCGCCTGGAAGCG	0.637													A	71562400	G	A	71562400	3	1	19	1	0	0	0	0	1	0	0	0	3670	1087	38	1	223	1	COL13A1	10	71562400	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	543826	71562400	63972347	1708	16007											
SGPL1	8879	broad.mit.edu	37	chr10	72628142	72628142	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcatactgatggcctgcaAagcatatcgggatctggcct	11	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:72628142A>G	uc001jrm.2	+	8	878	c.656A>G	c.(655-657)AAA>AGA	p.K219R	SGPL1_uc009xqk.2_5'Flank	NM_003901	NP_003892	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	219	Cytoplasmic (Potential).				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity				0					Pyridoxal Phosphate(DB00114)	ATGGCCTGCAAAGCATATCGG	0.478													G	72628142	A	G	72628142	3	3	19	1	0	0	0	0	1	0	0	0	14218	14	1	3	682	3	SGPL1	10	72628142	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1065742	72628142	62906605	1709	16008											
CCDC109A	90550	broad.mit.edu	37	chr10	74631136	74631136	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattatgtgtgcccaataggTacgaattgagattagcagaa	11	5	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:74631136T>C	uc001jtc.2	+	6	680	c.659T>C	c.(658-660)GTA>GCA	p.V220A	CCDC109A_uc009xqp.1_RNA|CCDC109A_uc009xqq.1_RNA|CCDC109A_uc010qjy.1_RNA|CCDC109A_uc009xqr.2_Missense_Mutation_p.V199A|CCDC109A_uc001jtd.2_Missense_Mutation_p.V171A	NM_138357	NP_612366	Q8NE86	MCU_HUMAN	coiled-coil domain containing 109A	220	Potential.|Mitochondrial matrix (Potential).				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding				0	Prostate(51;0.0198)					GCCCAATAGGTACGAATTGAG	0.428													C	74631136	T	C	74631136	3	2	19	1	0	0	0	0	1	0	0	0	2744	1652	57	3	681	3	CCDC109A	10	74631136	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2002994	74631136	60903611	1710	16009											
KIAA0913	23053	broad.mit.edu	37	chr10	75554018	75554018	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggaacttcgggaggggacActctgtgactatcggcctgt	15	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:75554018A>G	uc009xrl.2	+	13	2771	c.2739A>G	c.(2737-2739)ACA>ACG	p.T913T	KIAA0913_uc001jve.2_Silent_p.T913T|KIAA0913_uc001jvf.2_Silent_p.T913T|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Silent_p.T336T|KIAA0913_uc010qkr.1_Silent_p.T336T|KIAA0913_uc001jvj.2_Silent_p.T336T	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	913							zinc ion binding			breast(1)	1	Prostate(51;0.0112)					GGGAGGGGACACTCTGTGACT	0.567													G	75554018	A	G	75554018	2	3	19	1	0	0	0	0	0	0	0	1	8200	146	6	3		3	KIAA0913	10	75554018	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	922882	75554018	59980729	1711	16010											
KIAA0913	23053	broad.mit.edu	37	chr10	75557598	75557598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaatcagccatcagaggCagctgcacacttctacttcg	7	15	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:75557598C>T	uc009xrl.2	+	19	3739	c.3707C>T	c.(3706-3708)GCA>GTA	p.A1236V	KIAA0913_uc001jve.2_Missense_Mutation_p.A1241V|KIAA0913_uc001jvf.2_Missense_Mutation_p.A1236V|KIAA0913_uc001jvh.2_Intron|KIAA0913_uc001jvi.2_Missense_Mutation_p.A671V|KIAA0913_uc010qkr.1_Missense_Mutation_p.A659V|KIAA0913_uc001jvj.2_Missense_Mutation_p.A659V|KIAA0913_uc009xrn.1_5'Flank	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	1236							zinc ion binding			breast(1)	1	Prostate(51;0.0112)					CCATCAGAGGCAGCTGCACAC	0.587													T	75557598	C	T	75557598	3	4	19	1	0	0	0	0	1	0	0	0	8200	710	25	2	3796	2	KIAA0913	10	75557598	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3580	75557598	59977149	1712	16011											
CAMK2G	818	broad.mit.edu	37	chr10	75576611	75576611	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagcagggccttcaaaggTgcctgtctacaaccatcggg	13	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:75576611T>C	uc001jvv.1	-	19	1708	c.1584A>G	c.(1582-1584)GCA>GCG	p.A528A	CAMK2G_uc001jvm.1_Intron|CAMK2G_uc001jvo.1_Intron|CAMK2G_uc001jvq.1_Intron|CAMK2G_uc001jvr.1_Intron|CAMK2G_uc001jvp.1_Intron|CAMK2G_uc001jvs.1_Intron|CAMK2G_uc001jvt.1_Intron|CAMK2G_uc001jvu.1_Intron|CAMK2G_uc009xrp.1_Intron	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	Error:Variant_position_missing_in_Q13555_after_alignment					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)					CCTTCAAAGGTGCCTGTCTAC	0.502													C	75576611	T	C	75576611	2	2	19	1	0	0	0	0	0	0	0	1	2602	1711	59	3		3	CAMK2G	10	75576611	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	19013	75576611	59958136	1713	16012											
CAMK2G	818	broad.mit.edu	37	chr10	75609032	75609032	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagtaccttcaggtccctgTggacgatgtcatgctggtgg	14	9	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:75609032T>C	uc001jvv.1	-	6	501	c.377A>G	c.(376-378)CAC>CGC	p.H126R	CAMK2G_uc001jvm.1_Missense_Mutation_p.H134R|CAMK2G_uc001jvo.1_Missense_Mutation_p.H134R|CAMK2G_uc001jvq.1_Missense_Mutation_p.H134R|CAMK2G_uc001jvr.1_Missense_Mutation_p.H134R|CAMK2G_uc001jvp.1_Missense_Mutation_p.H134R|CAMK2G_uc001jvs.1_Missense_Mutation_p.H134R|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Missense_Mutation_p.H112R|CAMK2G_uc010qkv.1_Intron	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	134	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)					CAGGTCCCTGTGGACGATGTC	0.512											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	75609032	T	C	75609032	3	2	19	1	0	0	0	0	1	0	0	0	2602	1696	59	3	1433	3	CAMK2G	10	75609032	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	32421	75609032	59925715	1714	16013											
AP3M1	26985	broad.mit.edu	37	chr10	75897994	75897994	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tagtggtgaggtgttgaaatGacaggtggtacattttcaac	13	4	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:75897994G>A	uc001jwf.2	-	2	574	c.144C>T	c.(142-144)GTC>GTT	p.V48V	AP3M1_uc001jwg.2_Silent_p.V48V|AP3M1_uc001jwh.2_Silent_p.V48V|AP3M1_uc010qla.1_Silent_p.V48V	NM_207012	NP_996895	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	48					protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding				0	Prostate(51;0.0112)					GTGTTGAAATGACAGGTGGTA	0.433													A	75897994	G	A	75897994	2	1	19	1	0	0	0	0	0	0	0	1	747	1277	45	4		4	AP3M1	10	75897994	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	288962	75897994	59636753	1715	16014											
MYST4	23522	broad.mit.edu	37	chr10	76789593	76789593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtggatttagtgacctgGgcagtatcgagagcacaact	12	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:76789593G>A	uc001jwn.1	+	18	5504	c.5011G>A	c.(5011-5013)GGC>AGC	p.G1671S	MYST4_uc001jwo.1_Missense_Mutation_p.G1379S|MYST4_uc001jwp.1_Missense_Mutation_p.G1488S	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1671	Ser-rich.|Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					TAGTGACCTGGGCAGTATCGA	0.488			T	CREBBP	AML								A	76789593	G	A	76789593	3	1	19	1	0	0	0	0	1	0	0	0	10105	1232	43	4	5073	4	MYST4	10	76789593	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	891599	76789593	58745154	1716	16015											
DUPD1	338599	broad.mit.edu	37	chr10	76818210	76818210	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcctcctccatcttcggCgacagcctcttggcagatga	8	16	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:76818210C>T	uc001jwq.1	-	1	63	c.63G>A	c.(61-63)TCG>TCA	p.S21S		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase	21						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)	2	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCATCTTCGGCGACAGCCTCT	0.557													T	76818210	C	T	76818210	2	4	19	1	0	0	0	0	0	0	0	1	4804	755	27	1		1	DUPD1	10	76818210	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	28617	76818210	58716537	1717	16016											
POLR3A	11128	broad.mit.edu	37	chr10	79745739	79745739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccagctggtacagcacaCggggctgggagaatacaagc	15	10	0	1	rs139665002	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:79745739C>T	uc001jzn.2	-	23	3087	c.2993G>A	c.(2992-2994)CGT>CAT	p.R998H		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	998					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GTACAGCACACGGGGCTGGGA	0.527													T	79745739	C	T	79745739	3	4	19	1	0	0	0	0	1	0	0	0	12228	536	19	1	1215	1	POLR3A	10	79745739	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2927529	79745739	55789008	1718	16017											
ZMIZ1	57178	broad.mit.edu	37	chr10	81050715	81050715	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaccacttctctgcccacaGgtccttgggaaccctatggc	8	16	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:81050715G>T	uc001kaf.2	+	10	1113	c.541_splice	c.e10-1	p.V181_splice	ZMIZ1_uc001kag.2_Splice_Site_p.V57_splice|ZMIZ1_uc001kah.1_Splice_Site_p.V57_splice	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17						transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TCTGCCCACAGGTCCTTGGGA	0.567													T	81050715	G	T	81050715	5	4	19	1	0	0	0	0	0	0	1	0	17693	1014	35	5	562	5	ZMIZ1	10	81050715	Splice_Site	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1304976	81050715	54484032	1719	16018											
ZMIZ1	57178	broad.mit.edu	37	chr10	81058191	81058191	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggttcctgtggcaaattAcccccactcacctgttccag	8	16	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:81058191A>G	uc001kaf.2	+	15	2092	c.1520A>G	c.(1519-1521)TAC>TGC	p.Y507C	ZMIZ1_uc001kag.2_Missense_Mutation_p.Y383C	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	507	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GTGGCAAATTACCCCCACTCA	0.587													G	81058191	A	G	81058191	3	3	19	1	0	0	0	0	1	0	0	0	17693	391	14	3	1562	3	ZMIZ1	10	81058191	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	7476	81058191	54476556	1720	16019											
C10orf57	80195	broad.mit.edu	37	chr10	81841641	81841641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccttatcagaaccttggGcccctgggccccttcactca	7	17	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:81841641G>A	uc001kbl.2	+	2	162	c.132G>A	c.(130-132)GGG>GGA	p.G44G	LOC219347_uc001kbk.2_5'Flank|LOC219347_uc001kbi.3_5'Flank|LOC219347_uc009xsk.2_5'Flank|LOC219347_uc009xsl.2_5'Flank|LOC219347_uc009xsm.2_5'Flank|LOC219347_uc001kbj.3_5'Flank|C10orf57_uc009xsn.2_Missense_Mutation_p.G76D|C10orf57_uc010qlv.1_Silent_p.G68G|C10orf57_uc010qlw.1_Silent_p.G68G|C10orf57_uc001kbn.3_RNA|C10orf57_uc009xsp.2_RNA|C10orf57_uc001kbo.3_RNA	NM_025125	NP_079401	Q8TBM7	CJ057_HUMAN	hypothetical protein LOC80195	44						integral to membrane					0	Prostate(51;0.0095)|all_epithelial(25;0.175)		Epithelial(14;0.0793)|Colorectal(32;0.109)|all cancers(16;0.154)			AGAACCTTGGGCCCCTGGGCC	0.507													A	81841641	G	A	81841641	2	1	19	1	0	0	0	0	0	0	0	1	1609	1190	42	2		2	C10orf57	10	81841641	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	783450	81841641	53693106	1721	16020											
LRIT1	26103	broad.mit.edu	37	chr10	86001144	86001144	+	Frame_Shift_Del	DEL	G	G	-													ggggcagaagccccgggcctGggggggccacgcaagggcca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:86001144delG	uc001kcz.1	-	1	74	c.52delC	c.(52-54)CAGfs	p.Q18fs		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	18						integral to endoplasmic reticulum membrane					0						CCCCGGGCCTGGGGGGGCCAC	0.672													-	86001144	G	-	86001144	7	5	19	1	0	1	0	1	0	0	0	0	8947	1357	47	0	1835	0	LRIT1	10	86001144	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	4159503	86001144	49533603	1722	16021											
BMPR1A	657	broad.mit.edu	37	chr10	88677075	88677075	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctaatgcgccatgaaaAcatacttggtgggtacacac	10	9	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:88677075A>G	uc001kdy.2	+	9	1408	c.860A>G	c.(859-861)AAC>AGC	p.N287S		NM_004329	NP_004320	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	287	Cytoplasmic (Potential).|Protein kinase.				BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			lung(3)|large_intestine(1)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	8						CGCCATGAAAACATACTTGGT	0.433			Mis|N|F			gastrointestinal polyps			Hereditary_Mixed_Polyposis_syndrome_type_2|Juvenile_Polyposis				G	88677075	A	G	88677075	3	3	19	1	0	0	0	0	1	0	0	0	1469	43	2	3	886	3	BMPR1A	10	88677075	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2675931	88677075	46857672	1723	16022											
AGAP11	119385	broad.mit.edu	37	chr10	88768861	88768861	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtccgtcactggccaaacGtgccactttaaagccacgac	9	14	1	0	rs17096676	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:88768861G>A	uc001kee.2	+	12	2056	c.852G>A	c.(850-852)ACG>ACA	p.T284T	AGAP11_uc001kef.2_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase	284	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						CTGGCCAAACGTGCCACTTTA	0.498													A	88768861	G	A	88768861	2	1	19	1	0	0	0	0	0	0	0	1	367	1132	40	1		1	AGAP11	10	88768861	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	91786	88768861	46765886	1724	16023											
MINPP1	9562	broad.mit.edu	37	chr10	89265036	89265036	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggatggcggggctagtagtAccggcagccgcgacctgggt	19	10	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:89265036A>G	uc001keu.2	+	1	814	c.364A>G	c.(364-366)ACC>GCC	p.T122A	MINPP1_uc009xtf.1_RNA|MINPP1_uc001kev.2_Missense_Mutation_p.T122A	NM_004897	NP_004888	Q9UNW1	MINP1_HUMAN	multiple inositol polyphosphate histidine	122					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			urinary_tract(1)	1		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		GGCTAGTAGTACCGGCAGCCG	0.672											OREG0020348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	89265036	A	G	89265036	3	3	19	1	0	0	0	0	1	0	0	0	9588	391	14	3	366	3	MINPP1	10	89265036	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	496175	89265036	46269711	1725	16024											
RNLS	55328	broad.mit.edu	37	chr10	90122340	90122340	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcttattatcaatggagacGaagcgtatgcagggattact	10	6	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:90122340G>A	uc001kfe.2	-	5	804	c.669C>T	c.(667-669)TTC>TTT	p.F223F	RNLS_uc010qms.1_Silent_p.F140F|RNLS_uc001kfd.2_Silent_p.F223F|RNLS_uc009xtj.2_Silent_p.F55F	NM_001031709	NP_001026879	Q5VYX0	RNLS_HUMAN	renalase isoform 1	223						extracellular region	oxidoreductase activity			ovary(1)	1						CAATGGAGACGAAGCGTATGC	0.438													A	90122340	G	A	90122340	2	1	19	1	0	0	0	0	0	0	0	1	13505	1049	37	1		1	RNLS	10	90122340	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	857304	90122340	45412407	1726	16025											
LIPK	643414	broad.mit.edu	37	chr10	90492016	90492016	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacagaagcgactctactaCgtgggccactcacaaggcac	11	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:90492016C>T	uc010qmv.1	+	4	504	c.504C>T	c.(502-504)TAC>TAT	p.Y168Y		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	lipase, family member K precursor	168					lipid catabolic process	extracellular region	hydrolase activity	p.Y168Y(1)		ovary(2)	2		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		GACTCTACTACGTGGGCCACT	0.428													T	90492016	C	T	90492016	2	4	19	1	0	0	0	0	0	0	0	1	8827	547	19	1		1	LIPK	10	90492016	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	369676	90492016	45042731	1727	16026											
IFIT2	3433	broad.mit.edu	37	chr10	91066703	91066703	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagctgatgaggccaaTgataatctcttccgtgtctg	10	8	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:91066703T>C	uc009xts.2	+	2	1165	c.990T>C	c.(988-990)AAT>AAC	p.N330N	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	interferon-induced protein with	330					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			ovary(1)|skin(1)	2		Colorectal(252;0.0161)				ATGAGGCCAATGATAATCTCT	0.413													C	91066703	T	C	91066703	2	2	19	1	0	0	0	0	0	0	0	1	7523	1461	51	3		3	IFIT2	10	91066703	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	574687	91066703	44468044	1728	16027											
HTR7	3363	broad.mit.edu	37	chr10	92617294	92617294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcgctcagcaggtgcggCgcccaggagcccgcgaccgg	15	17	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:92617294C>T	uc001kha.2	-	1	378	c.135G>A	c.(133-135)GCG>GCA	p.A45A	HTR7_uc001kgz.2_Silent_p.A45A|HTR7_uc001khb.2_Silent_p.A45A	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	45	Extracellular (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GCAGGTGCGGCGCCCAGGAGC	0.716													T	92617294	C	T	92617294	2	4	19	1	0	0	0	0	0	0	0	1	7452	755	27	1		1	HTR7	10	92617294	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1550591	92617294	42917453	1729	16028											
TNKS2	80351	broad.mit.edu	37	chr10	93609348	93609348	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggatatatttgagagagaAcaggtgagtagataaatcat	11	2	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:93609348A>G	uc001khp.2	+	20	2988	c.2691A>G	c.(2689-2691)GAA>GAG	p.E897E		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	897	SAM.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				TTGAGAGAGAACAGGTGAGTA	0.338													G	93609348	A	G	93609348	2	3	19	1	0	0	0	0	0	0	0	1	16318	40	2	3		3	TNKS2	10	93609348	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	992054	93609348	41925399	1730	16029											
BTAF1	9044	broad.mit.edu	37	chr10	93748921	93748921	+	Frame_Shift_Del	DEL	T	T	-													tttttaataggtcactactgTttttaatgaagccacatcat							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:93748920_93748920GT>G	uc001khr.3	+	19	2535	c.2437_2437GT>G	c.(2437-2439)gttfs	p.V813fs	BTAF1_uc001khs.1_Frame_Shift_Del_p.V483fs|BTAF1_uc001kht.1_Frame_Shift_Del_p.V251fs	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	813					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GGTCACTACTGTTTTTAATGA	0.338													-	93748921	T	-	93748921	7	5	19	1	0	1	0	1	0	0	0	0	1536	1725	60	0	2516	0	BTAF1	10	93748921	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	139573	93748921	41785826	1731	16030											
IDE	3416	broad.mit.edu	37	chr10	94268556	94268556	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgaccaagataatgaccaGgatttgatttgtagtatttc	9	5	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:94268556G>T	uc001kia.2	-	7	1065	c.989C>A	c.(988-990)CCT>CAT	p.P330H		NM_004969	NP_004960	P14735	IDE_HUMAN	insulin-degrading enzyme isoform 1 precursor	330					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATAATGACCAGGATTTGATTT	0.393													T	94268556	G	T	94268556	3	4	19	1	0	0	0	0	1	0	0	0	7493	1000	35	5	2146	5	IDE	10	94268556	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	519635	94268556	41266191	1732	16031											
MYOF	26509	broad.mit.edu	37	chr10	95121229	95121229	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttctcatccaccgctcgaTttatgtcataagaccatgca	5	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:95121229T>C	uc001kin.2	-	28	3077	c.2954A>G	c.(2953-2955)AAT>AGT	p.N985S	MYOF_uc001kio.2_Missense_Mutation_p.N972S|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	985	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						CACCGCTCGATTTATGTCATA	0.473													C	95121229	T	C	95121229	3	2	19	1	0	0	0	0	1	0	0	0	10089	1493	52	3	3339	3	MYOF	10	95121229	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	852673	95121229	40413518	1733	16032											
PLCE1	51196	broad.mit.edu	37	chr10	95790955	95790955	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagacgaagtggggagacttCtcataccatctcacaactga	9	11	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:95790955C>T	uc001kjk.2	+	2	786	c.152C>T	c.(151-153)TCT>TTT	p.S51F	PLCE1_uc010qnx.1_Missense_Mutation_p.S51F	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	51					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				GGGGAGACTTCTCATACCATC	0.423													T	95790955	C	T	95790955	3	4	19	1	0	0	0	0	1	0	0	0	12034	913	32	4	154	4	PLCE1	10	95790955	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	669726	95790955	39743792	1734	16033											
PLCE1	51196	broad.mit.edu	37	chr10	96039591	96039591	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttataatggtgggaatgccaAcccccgacctgccaataatg	9	11	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:96039591A>G	uc001kjk.2	+	20	5352	c.4718A>G	c.(4717-4719)AAC>AGC	p.N1573S	PLCE1_uc010qnx.1_Missense_Mutation_p.N1557S|PLCE1_uc001kjm.2_Missense_Mutation_p.N1265S|uc001kjo.1_RNA	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1573					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				GGGAATGCCAACCCCCGACCT	0.413											OREG0020383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	96039591	A	G	96039591	3	3	19	1	0	0	0	0	1	0	0	0	12034	43	2	3	5078	3	PLCE1	10	96039591	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	248636	96039591	39495156	1735	16034											
NOC3L	64318	broad.mit.edu	37	chr10	96109868	96109868	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaccatttacagcaactcAccaattttgacatgtcattc	3	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:96109868A>G	uc001kjq.1	-	9	1216	c.1128_splice	c.e9+1	p.L376_splice	NOC3L_uc009xuk.1_Splice_Site_p.L161_splice	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog							nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)				ACAGCAACTCACCAATTTTGA	0.299													G	96109868	A	G	96109868	5	3	19	1	0	0	0	0	0	0	1	0	10514	173	6	3	1324	3	NOC3L	10	96109868	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	70277	96109868	39424879	1736	16035											
HELLS	3070	broad.mit.edu	37	chr10	96350527	96350527	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagaccctgttacacaagaAtttaaggtgaatactgttta	7	6	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:96350527A>G	uc001kjt.2	+	15	1866	c.1761A>G	c.(1759-1761)GAA>GAG	p.E587E	HELLS_uc001kjs.2_Silent_p.E571E|HELLS_uc009xul.2_Silent_p.E489E|HELLS_uc009xum.2_Silent_p.E457E|HELLS_uc009xun.2_Silent_p.E463E|HELLS_uc009xuo.2_Silent_p.E633E|HELLS_uc001kju.2_Silent_p.E226E|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Silent_p.E449E|HELLS_uc009xur.2_RNA	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	587					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			ovary(1)|kidney(1)	2		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TTACACAAGAATTTAAGGTGA	0.259													G	96350527	A	G	96350527	2	3	19	1	0	0	0	0	0	0	0	1	7046	98	4	3		3	HELLS	10	96350527	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	240659	96350527	39184220	1737	16036											
TLL2	7093	broad.mit.edu	37	chr10	98192586	98192586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagttccctccaatgacGtaggggatgactcctccagg	12	11	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:98192586G>A	uc001kml.1	-	4	724	c.498C>T	c.(496-498)TAC>TAT	p.Y166Y	TLL2_uc009xvf.1_Intron	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	166	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTCCAATGACGTAGGGGATGA	0.567													A	98192586	G	A	98192586	2	1	19	1	0	0	0	0	0	0	0	1	15943	1140	40	1		1	TLL2	10	98192586	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1842059	98192586	37342161	1738	16037											
CRTAC1	55118	broad.mit.edu	37	chr10	99683046	99683046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccacacaggccacagagCgtccggcaaagaggctggcc	13	14	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:99683046C>T	uc001kou.1	-	4	889	c.533G>A	c.(532-534)CGC>CAC	p.R178H	CRTAC1_uc001kov.2_Missense_Mutation_p.R167H|CRTAC1_uc001kot.1_5'UTR	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	178						proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GGCCACAGAGCGTCCGGCAAA	0.592													T	99683046	C	T	99683046	3	4	19	1	0	0	0	0	1	0	0	0	3896	768	27	1	1500	1	CRTAC1	10	99683046	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1490460	99683046	35851701	1739	16038											
C10orf28	27291	broad.mit.edu	37	chr10	99969347	99969347	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttggactctgaactcagTatgttaaatgggacaaaagt	9	5	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:99969347T>C	uc001kow.3	+	4	1771	c.1476T>C	c.(1474-1476)AGT>AGC	p.S492S	C10orf28_uc001kox.3_Silent_p.S492S|C10orf28_uc001koy.3_Silent_p.S492S|C10orf28_uc009xvx.2_Silent_p.S492S|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	492							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		CTGAACTCAGTATGTTAAATG	0.413													C	99969347	T	C	99969347	2	2	19	1	0	0	0	0	0	0	0	1	1601	1635	57	3		3	C10orf28	10	99969347	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	286301	99969347	35565400	1740	16039											
ENTPD7	57089	broad.mit.edu	37	chr10	101458541	101458541	+	Frame_Shift_Del	DEL	T	T	-													agttctacggcttctctgagTttttttattgtacagaggat							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:101458540_101458540GT>G	uc009xwl.3	+	10	1621	c.1266_1266GT>G	c.(1264-1266)gagfs	p.E422fs	ENTPD7_uc001kqa.4_Frame_Shift_Del_p.E420fs	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 7 (ENTPD7), mRNA.	420						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GCTTCTCTGAGTTTTTTTATT	0.488													-	101458541	T	-	101458541	7	5	19	1	0	1	0	1	0	0	0	0	5144	1725	60	0	1295	0	ENTPD7	10	101458541	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	1489194	101458541	34076206	1741	16040											
COX15	1355	broad.mit.edu	37	chr10	101487291	101487291	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctcctttattaaatgccaaTctaccatcgagaggccagac	6	12	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:101487291T>A	uc001kqb.3	-	3	919	c.302A>T	c.(301-303)GAT>GTT	p.D101V	COX15_uc001kqc.3_Missense_Mutation_p.D101V|COX15_uc010qpj.1_5'UTR	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	COX15 homolog isoform 1	101					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TAAATGCCAATCTACCATCGA	0.403													A	101487291	T	A	101487291	3	1	19	1	0	0	0	0	1	0	0	0	3764	1435	50	5	1028	5	COX15	10	101487291	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	28750	101487291	34047456	1742	16041											
PAX2	5076	broad.mit.edu	37	chr10	102566235	102566235	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agattcccagagtggtgtggAcagtttgcggaagcacttgc	14	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:102566235A>G	uc001krk.3	+	7	1284	c.734A>G	c.(733-735)GAC>GGC	p.D245G	PAX2_uc001krl.3_Missense_Mutation_p.D222G|PAX2_uc001krm.3_Missense_Mutation_p.D245G|PAX2_uc001kro.3_Missense_Mutation_p.D222G|PAX2_uc001krn.3_Missense_Mutation_p.D222G|PAX2_uc010qps.1_Missense_Mutation_p.D221G|PAX2_uc001krp.1_Missense_Mutation_p.D218G	NM_003990	NP_003981	Q02962	PAX2_HUMAN	paired box protein 2 isoform e	245					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity				0		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		AGTGGTGTGGACAGTTTGCGG	0.582													G	102566235	A	G	102566235	3	3	19	1	0	0	0	0	1	0	0	0	11479	275	10	3	760	3	PAX2	10	102566235	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1078944	102566235	32968512	1743	16042											
FAM178A	55719	broad.mit.edu	37	chr10	102684471	102684471	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtatcccaagccctgcagcAccttcagataaagccccttc	6	16	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:102684471A>G	uc001krt.3	+	5	2255	c.1713A>G	c.(1711-1713)GCA>GCG	p.A571A	FAM178A_uc001krr.1_Silent_p.A571A|FAM178A_uc001krs.2_Silent_p.A571A|FAM178A_uc001kru.1_Silent_p.A506A	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	571											0						GCCCTGCAGCACCTTCAGATA	0.478													G	102684471	A	G	102684471	2	3	19	1	0	0	0	0	0	0	0	1	5503	146	6	3		3	FAM178A	10	102684471	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	118236	102684471	32850276	1744	16043											
LZTS2	84445	broad.mit.edu	37	chr10	102762542	102762542	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgccccctaggaaggctGtccctgtcaccagcttcacc	9	17	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:102762542G>T	uc001ksj.2	+	2	316	c.247G>T	c.(247-249)GTC>TTC	p.V83F	LZTS2_uc010qpw.1_Missense_Mutation_p.V83F|LZTS2_uc001ksk.2_Missense_Mutation_p.V83F|LZTS2_uc001ksl.2_Missense_Mutation_p.V83F|LZTS2_uc001ksm.2_RNA	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	83	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				ovary(2)|large_intestine(1)|breast(1)	4				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		TAGGAAGGCTGTCCCTGTCAC	0.637													T	102762542	G	T	102762542	3	4	19	1	0	0	0	0	1	0	0	0	9139	1377	48	5	249	5	LZTS2	10	102762542	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	78071	102762542	32772205	1745	16044											
C10orf76	79591	broad.mit.edu	37	chr10	103717427	103717427	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cataagggctaatgtaaaaaTgttgtgtttggccaaaagta	10	4	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:103717427T>A	uc009xwy.1	-	21	1660	c.1558A>T	c.(1558-1560)ATT>TTT	p.I520F	C10orf76_uc009xwx.1_RNA	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	hypothetical protein LOC79591	520	Helical; (Potential).					integral to membrane					0		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AATGTAAAAATGTTGTGTTTG	0.343													A	103717427	T	A	103717427	3	1	19	1	0	0	0	0	1	0	0	0	1616	1464	51	5	535	5	C10orf76	10	103717427	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	954885	103717427	31817320	1746	16045											
PPRC1	23082	broad.mit.edu	37	chr10	103899979	103899979	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaccaatcctataccaAcccatctctcattggtcgac	3	16	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:103899979A>G	uc001kum.2	+	5	1753	c.1714A>G	c.(1714-1716)ACC>GCC	p.T572A	PPRC1_uc001kun.2_Missense_Mutation_p.T452A|PPRC1_uc010qqj.1_Missense_Mutation_p.T572A|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCCTATACCAACCCATCTCTC	0.527													G	103899979	A	G	103899979	3	3	19	1	0	0	0	0	1	0	0	0	12410	43	2	3	1732	3	PPRC1	10	103899979	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	182552	103899979	31634768	1747	16046											
C10orf95	79946	broad.mit.edu	37	chr10	104211207	104211207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctctccgcactttgtagCtgcgttgctccgctccatgc	8	17	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:104211207C>T	uc001kvo.1	-	1	94	c.19G>A	c.(19-21)GCT>ACT	p.A7T	uc001kvp.1_Missense_Mutation_p.A35V|uc001kvq.1_Intron|uc001kvr.1_5'Flank	NM_024886	NP_079162	Q9H7T3	CJ095_HUMAN	hypothetical protein LOC79946	7										liver(1)	1		Colorectal(252;0.207)		Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213)		CACTTTGTAGCTGCGTTGCTC	0.622													T	104211207	C	T	104211207	3	4	19	1	0	0	0	0	1	0	0	0	1626	797	28	2	762	2	C10orf95	10	104211207	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	311228	104211207	31323540	1748	16047											
SFXN2	118980	broad.mit.edu	37	chr10	104491950	104491950	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acccaagtagttatttctcgGatcaccatgtcagctcctgg	8	12	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:104491950G>A	uc001kwb.2	+	8	862	c.696G>A	c.(694-696)CGG>CGA	p.R232R	SFXN2_uc001kwc.2_Intron|SFXN2_uc001kwd.2_Intron	NM_178858	NP_849189	Q96NB2	SFXN2_HUMAN	sideroflexin 2	232	Helical; (Potential).				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity				0		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TTATTTCTCGGATCACCATGT	0.512													A	104491950	G	A	104491950	2	1	19	1	0	0	0	0	0	0	0	1	14195	1161	41	4		4	SFXN2	10	104491950	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	280743	104491950	31042797	1749	16048											
SFXN2	118980	broad.mit.edu	37	chr10	104497475	104497475	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagacactatcaaggccaagTatggagaacttgagccttat	9	8	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:104497475T>C	uc001kwb.2	+	12	1091	c.925T>C	c.(925-927)TAT>CAT	p.Y309H	SFXN2_uc001kwc.2_RNA|SFXN2_uc001kwd.2_RNA	NM_178858	NP_849189	Q96NB2	SFXN2_HUMAN	sideroflexin 2	309					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity				0		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CAAGGCCAAGTATGGAGAACT	0.463													C	104497475	T	C	104497475	3	2	19	1	0	0	0	0	1	0	0	0	14195	1638	57	3	967	3	SFXN2	10	104497475	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	5525	104497475	31037272	1750	16049											
CYP17A1	1586	broad.mit.edu	37	chr10	104591290	104591290	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaactgatccggctggtgCcactccttctcattgtgatg	10	11	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:104591290C>T	uc001kwg.2	-	7	1390	c.1218G>A	c.(1216-1218)TGG>TGA	p.W406*	C10orf26_uc009xxg.1_Intron	NM_000102	NP_000093	P05093	CP17A_HUMAN	cytochrome P450, family 17	406			W -> R (in AH5).		androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	CCGGCTGGTGCCACTCCTTCT	0.577													T	104591290	C	T	104591290	4	4	19	1	0	0	0	0	0	1	0	0	4147	740	26	2	316	2	CYP17A1	10	104591290	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	93815	104591290	30943457	1751	16050											
CNNM2	54805	broad.mit.edu	37	chr10	104679214	104679214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgggcaacgtgctggTcaacaccacgctcaccatcc	10	16	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:104679214T>C	uc001kwm.2	+	1	1101	c.977T>C	c.(976-978)GTC>GCC	p.V326A	CNNM2_uc001kwn.2_Missense_Mutation_p.V326A|CNNM2_uc001kwl.2_Missense_Mutation_p.V326A	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	326	DUF21.|Helical; (Potential).				ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AACGTGCTGGTCAACACCACG	0.622													C	104679214	T	C	104679214	3	2	19	1	0	0	0	0	1	0	0	0	3613	1667	58	3	979	3	CNNM2	10	104679214	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	87924	104679214	30855533	1752	16051											
PDCD11	22984	broad.mit.edu	37	chr10	105182764	105182764	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactctgtgttgatccagacGctggccgagatgaccccagg	13	12	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:105182764G>A	uc001kwy.1	+	18	2604	c.2517G>A	c.(2515-2517)ACG>ACA	p.T839T		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	839					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGATCCAGACGCTGGCCGAGA	0.527													A	105182764	G	A	105182764	2	1	19	1	0	0	0	0	0	0	0	1	11617	1074	38	1		1	PDCD11	10	105182764	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	503550	105182764	30351983	1753	16052											
SORCS3	22986	broad.mit.edu	37	chr10	106974273	106974273	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgccaaggcccagatgtgcCctggaaaagcccctcggggc	13	16	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:106974273C>A	uc001kyi.1	+	18	2676	c.2449C>A	c.(2449-2451)CCT>ACT	p.P817T	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	817	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCAGATGTGCCCTGGAAAAGC	0.557													A	106974273	C	A	106974273	3	1	19	1	0	0	0	0	1	0	0	0	14932	623	22	5	2519	5	SORCS3	10	106974273	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1791509	106974273	28560474	1754	16053											
DUSP5	1847	broad.mit.edu	37	chr10	112258064	112258064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggggcggcgcggtgtcggCgcgctacgtgctgcccgacg	19	15	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:112258064C>T	uc001kzd.2	+	1	440	c.185C>T	c.(184-186)GCG>GTG	p.A62V		NM_004419	NP_004410	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	62	Nuclear localization signal (Potential).|Rhodanese.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		gcggTGTCGGCGCGCTACGTG	0.657													T	112258064	C	T	112258064	3	4	19	1	0	0	0	0	1	0	0	0	4828	768	27	1	187	1	DUSP5	10	112258064	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	5283791	112258064	23276683	1755	16054											
SMC3	9126	broad.mit.edu	37	chr10	112356188	112356189	+	Frame_Shift_Ins	INS	-	-	G													ccatcggggtgctctaactgINSggggttattatgacacaagg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:112356187_112356188T>TG	uc001kze.3	+	18	2121_2122	c.1995_1996T>TG	c.(1993-1998)actgggfs	p.T665fs		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	665	Flexible hinge.				DNA mediated transformation|DNA repair|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GTGCTCTAACTGGGGGTTATTA	0.351													G	112356189	-	G	112356188	7	5	19	1	0	1	1	0	0	0	0	0	14784	1348	47	0	2070	0	SMC3	10	112356188	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	98124	112356188	23178559	1756	16055											
ADRA2A	150	broad.mit.edu	37	chr10	112838169	112838169	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacgtcgtccatcgtgcacCtgtgcgccatcagcctggac	11	16	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:112838169C>A	uc001kzo.2	+	1	1380	c.415C>A	c.(415-417)CTG>ATG	p.L139M		NM_000681	NP_000672	P08913	ADA2A_HUMAN	alpha-2A-adrenergic receptor	124	Helical; Name=3; (By similarity).			L -> P (in Ref. 13).	actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding				0		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	CATCGTGCACCTGTGCGCCAT	0.612													A	112838169	C	A	112838169	3	1	19	1	0	0	0	0	1	0	0	0	337	680	24	5	417	5	ADRA2A	10	112838169	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	481981	112838169	22696578	1757	16056											
GPAM	57678	broad.mit.edu	37	chr10	113913352	113913352	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattctagaagtttttgtcGgttgcattgaggtagaaaag	11	3	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:113913352G>A	uc009xxy.1	-	22	2641	c.2443C>T	c.(2443-2445)CGA>TGA	p.R815*	GPAM_uc001kzp.2_Nonsense_Mutation_p.R815*	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	815	Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential).				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			ovary(1)|skin(1)	2				Epithelial(162;0.0306)|all cancers(201;0.123)		AGTTTTTGTCGGTTGCATTGA	0.383													A	113913352	G	A	113913352	4	1	19	1	0	0	0	0	0	1	0	0	6588	1124	39	1	47	1	GPAM	10	113913352	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1075183	113913352	21621395	1758	16057											
NRAP	4892	broad.mit.edu	37	chr10	115355426	115355426	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcgagctcgggtgaaatcggGatggtcggggatcagggtgt	20	6	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:115355426G>T	uc001laj.2	-	38	4656	c.4492C>A	c.(4492-4494)CCC>ACC	p.P1498T	NRAP_uc009xyb.2_Missense_Mutation_p.P287T|NRAP_uc001lak.2_Missense_Mutation_p.P1463T|NRAP_uc001lal.3_Missense_Mutation_p.P1498T	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1498	Nebulin 40.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTGAAATCGGGATGGTCGGGG	0.493													T	115355426	G	T	115355426	3	4	19	1	0	0	0	0	1	0	0	0	10638	1174	41	5	720	5	NRAP	10	115355426	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1442074	115355426	20179321	1759	16058											
DCLRE1A	9937	broad.mit.edu	37	chr10	115612525	115612525	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaaacattcaaaaacatgCcatcgaggtgtctgccctat	6	12	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:115612525C>A	uc001law.2	-	1	1335	c.417G>T	c.(415-417)TGG>TGT	p.W139C	NHLRC2_uc001lax.1_5'Flank	NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	139	Nuclear localization region.				cell division|mitosis	nucleus	hydrolase activity			skin(2)	2				Epithelial(162;0.0157)|all cancers(201;0.0171)		CAAAAACATGCCATCGAGGTG	0.413								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	115612525	C	A	115612525	3	1	19	1	0	0	0	0	1	0	0	0	4294	740	26	5	2741	5	DCLRE1A	10	115612525	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	257099	115612525	19922222	1760	16059											
NHLRC2	374354	broad.mit.edu	37	chr10	115662308	115662308	+	Frame_Shift_Del	DEL	A	A	-													cccttggagtaacatgggacAaaaaaaggaatttactttat							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:115662307_115662307CA>C	uc001lax.2	+	7	1690	c.1449_1449CA>C	c.(1447-1449)gacfs	p.D483fs	NHLRC2_uc001lay.2_Non-coding_Transcript	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	Homo sapiens NHL repeat containing 2 (NHLRC2), mRNA.	483					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TAACATGGGACAAAAAAAGGA	0.323													-	115662308	A	-	115662308	7	5	19	1	0	1	0	1	0	0	0	0	10406	131	5	0	1480	0	NHLRC2	10	115662308	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	49783	115662308	19872439	1761	16060											
ADRB1	153	broad.mit.edu	37	chr10	115804211	115804211	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcgccgacctggtcaTggggctgctggtggtgccgt	18	12	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:115804211T>C	uc001lba.2	+	1	406	c.320T>C	c.(319-321)ATG>ACG	p.M107T		NM_000684	NP_000675	P08588	ADRB1_HUMAN	beta-1-adrenergic receptor	107	Helical; Name=2; (By similarity).				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	GACCTGGTCATGGGGCTGCTG	0.662													C	115804211	T	C	115804211	3	2	19	1	0	0	0	0	1	0	0	0	340	1464	51	3	322	3	ADRB1	10	115804211	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	141903	115804211	19730536	1762	16061											
TDRD1	56165	broad.mit.edu	37	chr10	115973165	115973165	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctcatgaaaaaacttgTacagaacaaaataatcacag	5	7	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:115973165T>C	uc001lbg.1	+	15	2045	c.1892T>C	c.(1891-1893)GTA>GCA	p.V631A	TDRD1_uc001lbf.2_Missense_Mutation_p.V565A|TDRD1_uc001lbh.1_Missense_Mutation_p.V622A|TDRD1_uc001lbi.1_Missense_Mutation_p.V622A|TDRD1_uc010qsc.1_Missense_Mutation_p.V235A|TDRD1_uc001lbj.2_Missense_Mutation_p.V340A	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	631					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAAAAACTTGTACAGAACAAA	0.368													C	115973165	T	C	115973165	3	2	19	1	0	0	0	0	1	0	0	0	15727	1638	57	3	1946	3	TDRD1	10	115973165	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	168954	115973165	19561582	1763	16062											
ABLIM1	3983	broad.mit.edu	37	chr10	116203839	116203839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacagagatgacctttcccGgctctctttctccatctctt	5	14	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:116203839G>A	uc010qsg.1	-	17	1981	c.1882C>T	c.(1882-1884)CGG>TGG	p.R628W	ABLIM1_uc010qsh.1_Missense_Mutation_p.R596W|ABLIM1_uc010qsi.1_Missense_Mutation_p.R568W|ABLIM1_uc010qsk.1_Missense_Mutation_p.R505W|ABLIM1_uc009xyp.2_Missense_Mutation_p.R592W|ABLIM1_uc010qsf.1_Missense_Mutation_p.R305W|ABLIM1_uc009xyn.2_Missense_Mutation_p.R244W|ABLIM1_uc010qsj.1_Missense_Mutation_p.R223W|ABLIM1_uc009xyo.2_Missense_Mutation_p.R441W	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	628					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GACCTTTCCCGGCTCTCTTTC	0.443													A	116203839	G	A	116203839	3	1	19	1	0	0	0	0	1	0	0	0	94	1115	39	1	478	1	ABLIM1	10	116203839	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	230674	116203839	19330908	1764	16063											
ATRNL1	26033	broad.mit.edu	37	chr10	117309003	117309003	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgctggtggctgctgtggTatggaagatcaaacaaactt	12	6	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:117309003T>C	uc001lcg.2	+	26	4138	c.3752T>C	c.(3751-3753)GTA>GCA	p.V1251A	ATRNL1_uc010qsm.1_Missense_Mutation_p.V380A|ATRNL1_uc010qsn.1_RNA	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	1251	Helical; (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GCTGCTGTGGTATGGAAGATC	0.318													C	117309003	T	C	117309003	3	2	19	1	0	0	0	0	1	0	0	0	1207	1638	57	3	3854	3	ATRNL1	10	117309003	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1105164	117309003	18225744	1765	16064											
SLC18A2	6571	broad.mit.edu	37	chr10	119001291	119001291	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttcatcgtgttcctggcGctgctgctggacaacatgct	11	12	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:119001291G>A	uc001ldd.1	+	2	118	c.87G>A	c.(85-87)GCG>GCA	p.A29A	SLC18A2_uc009xyy.1_5'UTR	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine),	29	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity				0		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TGTTCCTGGCGCTGCTGCTGG	0.706													A	119001291	G	A	119001291	2	1	19	1	0	0	0	0	0	0	0	1	14426	1074	38	1		1	SLC18A2	10	119001291	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1692288	119001291	16533456	1766	16065											
SLC18A2	6571	broad.mit.edu	37	chr10	119027216	119027216	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacatttatggactcatAgctccgaactttggagttgg	9	7	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:119027216A>G	uc001ldd.1	+	13	1186	c.1155A>G	c.(1153-1155)ATA>ATG	p.I385M	SLC18A2_uc009xyy.1_Missense_Mutation_p.I182M	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine),	385	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity				0		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	ATGGACTCATAGCTCCGAACT	0.378													G	119027216	A	G	119027216	3	3	19	1	0	0	0	0	1	0	0	0	14426	410	15	3	1201	3	SLC18A2	10	119027216	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	25925	119027216	16507531	1767	16066											
PDZD8	118987	broad.mit.edu	37	chr10	119044331	119044331	+	Frame_Shift_Del	DEL	T	T	-													catcgtctatggcatccacaTtttttgcttgcttttcagca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:119044330_119044330AT>A	uc001lde.1	-	4	2113	c.1914_1914AT>T	c.(1912-1914)aatfs	p.N638fs		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	638					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TGGCATCCACATTTTTTGCTT	0.448													-	119044331	T	-	119044331	7	5	19	1	0	1	0	1	0	0	0	0	11705	1493	52	0	1555	0	PDZD8	10	119044331	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	17115	119044331	16490416	1768	16067											
INPP5F	22876	broad.mit.edu	37	chr10	121567530	121567530	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataatgtgggccaataatggTgactccattagcagacagta	10	7	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:121567530T>C	uc001leo.2	+	13	1693	c.1527T>C	c.(1525-1527)GGT>GGC	p.G509G		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	509	SAC.						phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CCAATAATGGTGACTCCATTA	0.443													C	121567530	T	C	121567530	2	2	19	1	0	0	0	0	0	0	0	1	7758	1683	59	3		3	INPP5F	10	121567530	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2523199	121567530	13967217	1769	16068											
SEC23IP	11196	broad.mit.edu	37	chr10	121677919	121677919	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcataggttctttaatattgTttgacatcctgtctaatcaa	5	7	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:121677919T>A	uc001leu.1	+	10	1840	c.1768T>A	c.(1768-1770)TTT>ATT	p.F590I	SEC23IP_uc010qtc.1_Missense_Mutation_p.F379I|SEC23IP_uc009xzk.1_5'Flank	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	590				F -> L (in Ref. 2; AAO15299).	Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TTTAATATTGTTTGACATCCT	0.318													A	121677919	T	A	121677919	3	1	19	1	0	0	0	0	1	0	0	0	13993	1725	60	5	1806	5	SEC23IP	10	121677919	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	110389	121677919	13856828	1770	16069											
ACADSB	36	broad.mit.edu	37	chr10	124800876	124800876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggctctttctggtgatggCaaatgtagaccctaccattg	11	9	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:124800876C>T	uc001lhb.2	+	5	779	c.662C>T	c.(661-663)GCA>GTA	p.A221V	ACADSB_uc010qub.1_Missense_Mutation_p.A119V	NM_001609	NP_001600	P45954	ACDSB_HUMAN	acyl-Coenzyme A dehydrogenase, short/branched	221					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	CTGGTGATGGCAAATGTAGAC	0.403													T	124800876	C	T	124800876	3	4	19	1	0	0	0	0	1	0	0	0	115	710	25	2	680	2	ACADSB	10	124800876	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3122957	124800876	10733871	1771	16070											
BUB3	9184	broad.mit.edu	37	chr10	124914613	124914613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacaccggcgccgtcctGgactgcgccttctacgtagg	12	16	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:124914613G>A	uc001lhe.2	+	2	422	c.180G>A	c.(178-180)CTG>CTA	p.L60L	BUB3_uc009yah.2_Silent_p.L12L|BUB3_uc001lhf.3_Silent_p.L60L|BUB3_uc001lhd.2_Silent_p.L60L|BUB3_uc010qud.1_Intron	NM_004725	NP_004716	O43684	BUB3_HUMAN	budding uninhibited by benzimidazoles 3 isoform	60	WD 2.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			ovary(1)	1		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				GCGCCGTCCTGGACTGCGCCT	0.602													A	124914613	G	A	124914613	2	1	19	1	0	0	0	0	0	0	0	1	1572	1335	47	4		4	BUB3	10	124914613	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	113737	124914613	10620134	1772	16071											
CPXM2	119587	broad.mit.edu	37	chr10	125601969	125601969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatttcttcccgcgcaccaCgctccgtcataaaaatcatt	4	15	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:125601969C>T	uc001lhk.1	-	4	874	c.549G>A	c.(547-549)GCG>GCA	p.A183A	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	183	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCGCGCACCACGCTCCGTCAT	0.448													T	125601969	C	T	125601969	2	4	19	1	0	0	0	0	0	0	0	1	3838	523	19	1		1	CPXM2	10	125601969	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	687356	125601969	9932778	1773	16072											
CHST15	51363	broad.mit.edu	37	chr10	125805647	125805647	+	Frame_Shift_Del	DEL	G	G	-													gcacgcctggtgaccgtgatGggggcccccttggcagttga							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:125805646_125805646TG>T	uc001lhn.3	-	1	817	c.83_83CA>A	c.(82-84)catfs	p.H28fs	CHST15_uc001lhm.3_Frame_Shift_Del_p.H28fs|CHST15_uc010que.2_Frame_Shift_Del_p.H28fs|CHST15_uc001lho.3_Frame_Shift_Del_p.H28fs	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	28					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GTGACCGTGATGGGGGCCCCC	0.547													-	125805647	G	-	125805647	7	5	19	1	0	1	0	1	0	0	0	0	3403	1348	47	0	1631	0	CHST15	10	125805647	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	203678	125805647	9729100	1774	16073											
C10orf137	26098	broad.mit.edu	37	chr10	127451948	127451948	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgagagcaactgcaaataaAaccgcgactcttctggaaag	9	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:127451948A>G	uc001liq.1	+	25	3917	c.3624A>G	c.(3622-3624)AAA>AAG	p.K1208K	C10orf137_uc001lio.1_Silent_p.K1174K|C10orf137_uc001lip.1_Silent_p.K912K|C10orf137_uc001lis.1_Silent_p.K534K|C10orf137_uc001lit.1_Silent_p.K118K	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	1208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTGCAAATAAAACCGCGACTC	0.468													G	127451948	A	G	127451948	2	3	19	1	0	0	0	0	0	0	0	1	1594	11	1	3		3	C10orf137	10	127451948	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1646301	127451948	8082799	1775	16074											
BCCIP	56647	broad.mit.edu	37	chr10	127524753	127524753	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatggtcttttgatgacgtAccaatgacgcccttgcgaac	9	10	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:127524753A>G	uc001ljb.3	+	7	878	c.855A>G	c.(853-855)GTA>GTG	p.V285V	BCCIP_uc001ljd.3_Intron|BCCIP_uc010qui.1_Intron|BCCIP_uc001ljc.3_Intron|BCCIP_uc010quj.1_Intron	NM_078468	NP_510868	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A-interacting protein isoform	285					cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			ovary(1)|breast(1)	2		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTGATGACGTACCAATGACGC	0.423													G	127524753	A	G	127524753	2	3	19	1	0	0	0	0	0	0	0	1	1356	378	14	3		3	BCCIP	10	127524753	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	72805	127524753	8009994	1776	16075											
FAM196A	642938	broad.mit.edu	37	chr10	128952176	128952176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctgtgtcttgccccgtcCgatatgaaagcctacaagat	9	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:128952176C>T	uc001lju.1	-	2	1237	c.1196G>A	c.(1195-1197)CGG>CAG	p.R399Q	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Intron|FAM196A_uc001ljv.1_Missense_Mutation_p.R399Q|FAM196A_uc009yap.1_Intron	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	399										ovary(2)	2						TTGCCCCGTCCGATATGAAAG	0.443													T	128952176	C	T	128952176	3	4	19	1	0	0	0	0	1	0	0	0	5528	652	23	1	251	1	FAM196A	10	128952176	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1427423	128952176	6582571	1777	16076											
MKI67	4288	broad.mit.edu	37	chr10	129904261	129904261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagatcttctagagccttgGccttttctttaggagtttgt	9	9	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:129904261G>A	uc001lke.2	-	13	6038	c.5843C>T	c.(5842-5844)GCC>GTC	p.A1948V	MKI67_uc001lkf.2_Missense_Mutation_p.A1588V|MKI67_uc009yav.1_Missense_Mutation_p.A1523V|MKI67_uc009yaw.1_Missense_Mutation_p.A1098V	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1948	16 X 122 AA approximate repeats.|8.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TAGAGCCTTGGCCTTTTCTTT	0.478													A	129904261	G	A	129904261	3	1	19	1	0	0	0	0	1	0	0	0	9598	1203	42	2	3939	2	MKI67	10	129904261	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	952085	129904261	5630486	1778	16077											
MKI67	4288	broad.mit.edu	37	chr10	129906745	129906745	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttttggtagttttctcatcaGtcattgattcctcagaggga	9	7	4	2	rs11016074		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:129906745G>C	uc001lke.2	-	13	3554	c.3359C>G	c.(3358-3360)ACT>AGT	p.T1120S	MKI67_uc001lkf.2_Missense_Mutation_p.T760S|MKI67_uc009yav.1_Missense_Mutation_p.T695S|MKI67_uc009yaw.1_Missense_Mutation_p.T270S	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1120	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTCTCATCAGTCATTGATTC	0.488													C	129906745	G	C	129906745	3	2	19	1	0	0	0	0	1	0	0	0	9598	1029	36	5	6423	5	MKI67	10	129906745	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2484	129906745	5628002	1779	16078											
C10orf93	255352	broad.mit.edu	37	chr10	134750555	134750555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcgtccattaattcatgaCgaacctgtcataaaatggag	8	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:134750555C>T	uc001llt.1	-	7	741	c.665G>A	c.(664-666)CGT>CAT	p.R222H		NM_173572	NP_775843	Q5SR76	CJ093_HUMAN	hypothetical protein LOC255352	222							binding			pancreas(1)	1		all_cancers(35;1.8e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Colorectal(31;0.119)|Glioma(114;0.172)|Melanoma(40;0.175)		Epithelial(32;4.28e-05)|OV - Ovarian serous cystadenocarcinoma(35;4.31e-05)|all cancers(32;5.02e-05)		TAATTCATGACGAACCTGTCA	0.313													T	134750555	C	T	134750555	3	4	19	1	0	0	0	0	1	0	0	0	1625	536	19	1	564	1	C10orf93	10	134750555	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	4843810	134750555	784192	1780	16079											
B4GALNT4	338707	broad.mit.edu	37	chr11	380921	380921	+	Frame_Shift_Del	DEL	G	G	-													ggaggagttccgagaccagtGggggggtgaagactgggagc					rs35951843		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:380921delG	uc001lpb.2	+	19	2975	c.2966delG	c.(2965-2967)TGGfs	p.W989fs		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	989	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGAGACCAGTGGGGGGGTGAA	0.602													-	380921	G	-	380921	7	5	19	1	0	1	0	1	0	0	0	0	1269	1357	47	0	3040	0	B4GALNT4	11	380921	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08		380921	134625595	1781	16080											
PHRF1	57661	broad.mit.edu	37	chr11	607110	607112	+	In_Frame_Del	DEL	GAA	GAA	-													caggcagtctgtccagagggGaagaaggattcaagggctgc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:607109_607111GGAA>G	uc001lqe.3	+	13	1784_1786	c.1653_1655GGAA>G	c.(1651-1656)ggggaa>ggGa	p.E553del	PHRF1_uc010qwc.2_In_Frame_Del_p.E552del|PHRF1_uc010qwd.2_In_Frame_Del_p.E551del|PHRF1_uc010qwe.2_In_Frame_Del_p.E549del|PHRF1_uc009ybz.1_In_Frame_Del_p.E343del|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	553							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TGTCCAGAGGGGAAGAAGGATTC	0.547													-	607112	GAA	-	607110	7	5	19	1	0	1	0	1	0	0	0	0	11861	1175	41	0	1701	0	PHRF1	11	607110	In_Frame_Del	DEL	GAA	TCGA-BR-4361-01A-01D-1158-08	226189	607110	134399406	1782	16081											
PHRF1	57661	broad.mit.edu	37	chr11	608885	608885	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagcgggaacgcagccaCgagcggccagacaggaagga	15	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:608885C>T	uc001lqe.2	+	14	3560	c.3429C>T	c.(3427-3429)CAC>CAT	p.H1143H	PHRF1_uc010qwc.1_Silent_p.H1142H|PHRF1_uc010qwd.1_Silent_p.H1141H|PHRF1_uc010qwe.1_Silent_p.H1139H|PHRF1_uc009ybz.1_Silent_p.H933H|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1143	Arg-rich.						RNA polymerase binding|zinc ion binding				0						AACGCAGCCACGAGCGGCCAG	0.672													T	608885	C	T	608885	2	4	19	1	0	0	0	0	0	0	0	1	11861	535	19	1		1	PHRF1	11	608885	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1775	608885	134397631	1783	16082											
EPS8L2	64787	broad.mit.edu	37	chr11	723324	723324	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccccccgggggatgccctAccaccagtcagctccccaca	8	21	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:723324A>G	uc001lqt.2	+	15	1672	c.1425A>G	c.(1423-1425)CTA>CTG	p.L475L	EPS8L2_uc001lqu.2_Silent_p.L475L|EPS8L2_uc010qwk.1_Silent_p.L491L|EPS8L2_uc001lqv.2_Silent_p.L430L|EPS8L2_uc001lqw.2_Silent_p.L87L|EPS8L2_uc001lqx.2_Silent_p.L87L|EPS8L2_uc001lqy.2_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	epidermal growth factor receptor pathway	475						cytoplasm				pancreas(1)	1		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGATGCCCTACCACCAGTCA	0.562											OREG0020659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	723324	A	G	723324	2	3	19	1	0	0	0	0	0	0	0	1	5196	378	14	3		3	EPS8L2	11	723324	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	114439	723324	134283192	1784	16083											
MUC6	4588	broad.mit.edu	37	chr11	1015927	1015927	+	Frame_Shift_Del	DEL	C	C	-													agaggtggggatacccgtcaCccccgaggtgagtgacacaa							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:1015926_1015926AC>A	uc001lsw.2	-	30	6926	c.6875_6875GT>T	c.(6874-6876)gtgfs	p.V2292fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	2292	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATACCCGTCACCCCCGAGGT	0.627													-	1015927	C	-	1015927	7	5	19	1	0	1	0	1	0	0	0	0	9980	507	18	0	457	0	MUC6	11	1015927	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	292603	1015927	133990589	1785	16084											
MUC2	4583	broad.mit.edu	37	chr11	1096499	1096499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacaaggtgtcctgtccccGcaccctcatcgtgcgccacg	10	18	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:1096499G>A	uc001lsx.1	+	37	13637	c.13610G>A	c.(13609-13611)CGC>CAC	p.R4537H		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4537	VWFD 4.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TCCTGTCCCCGCACCCTCATC	0.597													A	1096499	G	A	1096499	3	1	19	1	0	0	0	0	1	0	0	0	9975	1087	38	1	6650	1	MUC2	11	1096499	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	80572	1096499	133910017	1786	16085											
MUC2	4583	broad.mit.edu	37	chr11	1101162	1101162	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgacacctgctgcaacattAccgtctgcagtaaggccatc	8	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:1101162A>G	uc001lsx.1	+	44	14674	c.14647A>G	c.(14647-14649)ACC>GCC	p.T4883A		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4883	VWFC 1.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTGCAACATTACCGTCTGCAG	0.632													G	1101162	A	G	1101162	3	3	19	1	0	0	0	0	1	0	0	0	9975	391	14	3	7715	3	MUC2	11	1101162	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	4663	1101162	133905354	1787	16086											
TOLLIP	54472	broad.mit.edu	37	chr11	1298340	1298340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcgctgggcttccagcaCggagcggatcacctcctggt	12	16	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:1298340C>T	uc001lte.2	-	6	865	c.754G>A	c.(754-756)GTG>ATG	p.V252M	TOLLIP_uc001ltd.2_Missense_Mutation_p.V183M|TOLLIP_uc009ycu.2_Missense_Mutation_p.V191M|TOLLIP_uc001ltf.2_Missense_Mutation_p.V202M	NM_019009	NP_061882	Q9H0E2	TOLIP_HUMAN	toll interacting protein	252	CUE.				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding				0		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		GCTTCCAGCACGGAGCGGATC	0.652													T	1298340	C	T	1298340	3	4	19	1	0	0	0	0	1	0	0	0	16347	536	19	1	74	1	TOLLIP	11	1298340	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	197178	1298340	133708176	1788	16087											
TNNI2	7136	broad.mit.edu	37	chr11	1861658	1861658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacagggccatcacggcccGcaggcagcacctgaaggtag	14	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:1861658G>A	uc010qxe.1	+	2	63	c.41G>A	c.(40-42)CGC>CAC	p.R14H	TNNI2_uc010qxc.1_Missense_Mutation_p.R12H|TNNI2_uc010qxd.1_Missense_Mutation_p.R12H	NM_001145841	NP_001139313	P48788	TNNI2_HUMAN	fast-twitch skeletal muscle troponin I isoform	14	Involved in binding TNC.				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding				0		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ATCACGGCCCGCAGGCAGCAC	0.726													A	1861658	G	A	1861658	3	1	19	1	0	0	0	0	1	0	0	0	16324	1087	38	1	66	1	TNNI2	11	1861658	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	563318	1861658	133144858	1789	16088											
TSSC4	10078	broad.mit.edu	37	chr11	2424406	2424406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagagcaatcaggccacCgccctggccttcctgggctc	12	16	1	1	rs147679407		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:2424406C>T	uc001lwj.2	+	4	904	c.543C>T	c.(541-543)ACC>ACT	p.T181T	TSSC4_uc001lwi.2_Silent_p.T117T|TSSC4_uc001lwk.2_Silent_p.T181T|TSSC4_uc001lwl.2_Silent_p.T181T	NM_005706	NP_005697	Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	181											0		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCAGGCCACCGCCCTGGCCT	0.662													T	2424406	C	T	2424406	2	4	19	1	0	0	0	0	0	0	0	1	16664	639	23	1		1	TSSC4	11	2424406	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	562748	2424406	132582110	1790	16089											
NUP98	4928	broad.mit.edu	37	chr11	3720570	3720570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccatgtcaggctccagtGcttcacaactaaggcaggaa	10	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:3720570G>A	uc001lyh.2	-	25	4042	c.3751C>T	c.(3751-3753)CAC>TAC	p.H1251Y	NUP98_uc001lyi.2_Missense_Mutation_p.H1251Y|NUP98_uc001lyg.2_Missense_Mutation_p.H216Y	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1268					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		aggctccagtgcttcacaact	0.264			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								A	3720570	G	A	3720570	3	1	19	1	0	0	0	0	1	0	0	0	10773	1319	46	2	1687	2	NUP98	11	3720570	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1296164	3720570	131285946	1791	16090											
OR52M1	119772	broad.mit.edu	37	chr11	4566819	4566819	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccatctgcaacccactacgTcatagcatggtgctcactta	7	14	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:4566819T>C	uc010qyf.1	+	1	399	c.399T>C	c.(397-399)CGT>CGC	p.R133R		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M,	133	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCCACTACGTCATAGCATGG	0.527													C	4566819	T	C	4566819	2	2	19	1	0	0	0	0	0	0	0	1	11126	1654	58	3		3	OR52M1	11	4566819	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	846249	4566819	130439697	1792	16091											
OR52M1	119772	broad.mit.edu	37	chr11	4567047	4567047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcatcggctttctggtGttgatcctggactcagtggc	13	10	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:4567047G>A	uc010qyf.1	+	1	627	c.627G>A	c.(625-627)GTG>GTA	p.V209V		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTTCTGGTGTTGATCCTGG	0.517													A	4567047	G	A	4567047	2	1	19	1	0	0	0	0	0	0	0	1	11126	1364	48	4		4	OR52M1	11	4567047	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	228	4567047	130439469	1793	16092											
TRIM68	55128	broad.mit.edu	37	chr11	4621976	4621976	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctggcagtttctggttggTgtctccatagtgcacacgtt	12	9	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:4621976T>C	uc001lzf.1	-	7	1226	c.988A>G	c.(988-990)ACC>GCC	p.T330A	TRIM68_uc001lzg.1_Missense_Mutation_p.T107A|TRIM68_uc010qyj.1_RNA	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	ring finger protein 137	330	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCTGGTTGGTGTCTCCATAG	0.512													C	4621976	T	C	4621976	3	2	19	1	0	0	0	0	1	0	0	0	16538	1696	59	3	473	3	TRIM68	11	4621976	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	54929	4621976	130384540	1794	16093											
UBQLN3	50613	broad.mit.edu	37	chr11	5529729	5529729	+	Frame_Shift_Del	DEL	G	G	-													tagataagttcctagggactGggggttctcgtgtaattgct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:5529728_5529728TG>T	uc021qcw.1	-	0	1061	c.1061_1061CA>A	c.(1060-1062)cagfs	p.Q354fs	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Frame_Shift_Del_p.Q354fs	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	354										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTAGGGACTGGGGGTTCTC	0.488													-	5529729	G	-	5529729	7	5	19	1	0	1	0	1	0	0	0	0	16895	1357	47	0	911	0	UBQLN3	11	5529729	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	907753	5529729	129476787	1795	16094											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5624748	5624748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccagccagggaacctgcGgcctaatcggcatctggcca	11	15	1	0	rs138509220		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:5624748G>A	uc001mbf.2	+	2	534	c.290G>A	c.(289-291)CGG>CAG	p.R97Q	HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.R69Q|TRIM6_uc010qzj.1_Intron|TRIM6_uc001mbc.1_Missense_Mutation_p.R69Q|TRIM6_uc001mbe.2_Intron|TRIM6_uc010qzk.1_Intron|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Missense_Mutation_p.R97Q|TRIM6_uc001mbg.1_5'Flank|TRIM6_uc009yep.1_5'Flank	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN	tripartite motif-containing 6 and tripartite	97						intracellular	zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		GGGAACCTGCGGCCTAATCGG	0.557													A	5624748	G	A	5624748	3	1	19	1	0	0	0	0	1	0	0	0	16531	1116	39	1	296	1	TRIM6-TRIM34	11	5624748	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	95019	5624748	129381768	1796	16095											
OR52N1	79473	broad.mit.edu	37	chr11	5809670	5809670	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagagggaagcagatggccAcacagtggtccagggccatg	16	10	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:5809670A>G	uc010qzo.1	-	1	377	c.377T>C	c.(376-378)GTG>GCG	p.V126A	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GCAGATGGCCACACAGTGGTC	0.507													G	5809670	A	G	5809670	3	3	19	1	0	0	0	0	1	0	0	0	11127	159	6	3	588	3	OR52N1	11	5809670	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	184922	5809670	129196846	1797	16096											
SMPD1	6609	broad.mit.edu	37	chr11	6413196	6413196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgcgggccctgaccaccGtcacagcacttgtgaggaag	12	13	1	2	rs2723669	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:6413196G>A	uc001mcw.2	+	2	1075	c.901G>A	c.(901-903)GTC>ATC	p.V301I	SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.V301I|SMPD1_uc009yew.2_Missense_Mutation_p.V300I	NM_000543	NP_000534	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid	299					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	CCTGACCACCGTCACAGCACT	0.582													A	6413196	G	A	6413196	3	1	19	1	0	0	0	0	1	0	0	0	14804	1145	40	1	907	1	SMPD1	11	6413196	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	603526	6413196	128593320	1798	16097											
DCHS1	8642	broad.mit.edu	37	chr11	6662142	6662142	+	Frame_Shift_Del	DEL	G	G	-													cagcagggcctgggccctccGggggggtgaaccaccatcat					rs143767864	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:6662141_6662141CG>C	uc001mem.1	-	1	1105	c.704_704CG>G	c.(703-705)cggfs	p.R235fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGA	0.587													-	6662142	G	-	6662142	7	5	19	1	0	1	0	1	0	0	0	0	4287	1115	39	0	9273	0	DCHS1	11	6662142	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	248946	6662142	128344374	1799	16098											
OR6A2	8590	broad.mit.edu	37	chr11	6816234	6816234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttatagcgtccagcagCcgaaggaatgtgcatcacag	12	11	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:6816234C>T	uc001mes.1	-	1	906	c.706G>A	c.(706-708)GCT>ACT	p.A236T		NM_003696	NP_003687	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A,	236	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CGTCCAGCAGCCGAAGGAATG	0.493													T	6816234	C	T	6816234	3	4	19	1	0	0	0	0	1	0	0	0	11186	739	26	2	281	2	OR6A2	11	6816234	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	154092	6816234	128190282	1800	16099											
ZNF214	7761	broad.mit.edu	37	chr11	7021758	7021758	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accacactcatcacacttatAtggtttttctcctgtgtgga	6	11	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:7021758A>G	uc001mfa.2	-	3	1459	c.1156T>C	c.(1156-1158)TAT>CAT	p.Y386H	ZNF214_uc010ray.1_Missense_Mutation_p.Y386H|ZNF214_uc009yfh.1_Missense_Mutation_p.Y386H	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	386	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TCACACTTATATGGTTTTTCT	0.393													G	7021758	A	G	7021758	3	3	19	1	0	0	0	0	1	0	0	0	17767	449	16	3	668	3	ZNF214	11	7021758	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	205524	7021758	127984758	1801	16100											
TUB	7275	broad.mit.edu	37	chr11	8111723	8111723	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggcccggcagtcagaggaAcaagcccccctggtggagtc	15	14	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:8111723A>G	uc001mga.2	+	3	347	c.198A>G	c.(196-198)GAA>GAG	p.E66E	TUB_uc010rbk.1_Silent_p.E72E|TUB_uc001mfy.2_Silent_p.E121E	NM_177972	NP_813977	P50607	TUB_HUMAN	tubby isoform b	66					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				ovary(1)	1		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGTCAGAGGAACAAGCCCCCC	0.517													G	8111723	A	G	8111723	2	3	19	1	0	0	0	0	0	0	0	1	16739	40	2	3		3	TUB	11	8111723	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1089965	8111723	126894793	1802	16101											
STK33	65975	broad.mit.edu	37	chr11	8478918	8478918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatatgctatagctgatgCgagactttgaatgatccacc	9	8	0	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:8478918C>T	uc001mgi.1	-	5	1586	c.667G>A	c.(667-669)GCA>ACA	p.A223T	STK33_uc001mgj.1_Missense_Mutation_p.A223T|STK33_uc001mgk.1_Missense_Mutation_p.A223T|STK33_uc010rbn.1_Missense_Mutation_p.A182T|STK33_uc001mgl.3_Missense_Mutation_p.A36T|STK33_uc009yfp.2_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	223	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		ATAGCTGATGCGAGACTTTGA	0.398													T	8478918	C	T	8478918	3	4	19	1	0	0	0	0	1	0	0	0	15299	768	27	1	909	1	STK33	11	8478918	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	367195	8478918	126527598	1803	16102											
IPO7	10527	broad.mit.edu	37	chr11	9446771	9446771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgaaaaaaagatggagccCtgcatatgattggctcttta	9	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:9446771C>T	uc001mho.2	+	12	1439	c.1297C>T	c.(1297-1299)CTG>TTG	p.L433L		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	433					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AGATGGAGCCCTGCATATGAT	0.348													T	9446771	C	T	9446771	2	4	19	1	0	0	0	0	0	0	0	1	7797	680	24	4		4	IPO7	11	9446771	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	967853	9446771	125559745	1804	16103											
IPO7	10527	broad.mit.edu	37	chr11	9452545	9452545	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagtgtagttgaagatcatAaagaggtaagaagatgatct	11	2	2	6			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:9452545A>G	uc001mho.2	+	16	2018	c.1876A>G	c.(1876-1878)AAA>GAA	p.K626E		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	626					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGAAGATCATAAAGAGGTAAG	0.388													G	9452545	A	G	9452545	3	3	19	1	0	0	0	0	1	0	0	0	7797	363	13	3	1938	3	IPO7	11	9452545	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	5774	9452545	125553971	1805	16104											
IPO7	10527	broad.mit.edu	37	chr11	9456521	9456521	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattatgtaacagttgatacAgacacacttctgtctgacac	6	9	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:9456521A>G	uc001mho.2	+	19	2257	c.2115A>G	c.(2113-2115)ACA>ACG	p.T705T		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	705					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CAGTTGATACAGACACACTTC	0.328													G	9456521	A	G	9456521	2	3	19	1	0	0	0	0	0	0	0	1	7797	175	7	3		3	IPO7	11	9456521	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3976	9456521	125549995	1806	16105											
SBF2	81846	broad.mit.edu	37	chr11	9875254	9875254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctcagctacacttcctGcaatactaagacagtcaagg	7	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:9875254G>A	uc001mib.2	-	20	2507	c.2369C>T	c.(2368-2370)GCA>GTA	p.A790V	SBF2_uc001mif.3_Missense_Mutation_p.A546V|uc001mig.2_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	790					myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TACACTTCCTGCAATACTAAG	0.378													A	9875254	G	A	9875254	3	1	19	1	0	0	0	0	1	0	0	0	13859	1319	46	2	3264	2	SBF2	11	9875254	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	418733	9875254	125131262	1807	16106											
SBF2	81846	broad.mit.edu	37	chr11	9990009	9990009	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgggcttcattaatctctggGaaaggaagaatatgaactcg	11	7	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:9990009G>A	uc001mib.2	-	14	1617	c.1479C>T	c.(1477-1479)TTC>TTT	p.F493F	SBF2_uc001mif.3_Silent_p.F249F|SBF2_uc001mih.3_Silent_p.F22F	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	493					myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TAATCTCTGGGAAAGGAAGAA	0.418													A	9990009	G	A	9990009	2	1	19	1	0	0	0	0	0	0	0	1	13859	1165	41	4		4	SBF2	11	9990009	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	114755	9990009	125016507	1808	16107											
CTR9	9646	broad.mit.edu	37	chr11	10785222	10785222	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagcttttcagtactattaTcaagccacacagtttgcctc	5	12	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:10785222T>C	uc001mja.2	+	9	1139	c.990T>C	c.(988-990)TAT>TAC	p.Y330Y		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	330	TPR 6.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGTACTATTATCAAGCCACAC	0.333													C	10785222	T	C	10785222	2	2	19	1	0	0	0	0	0	0	0	1	4024	1442	50	3		3	CTR9	11	10785222	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	795213	10785222	124221294	1809	16108											
CTR9	9646	broad.mit.edu	37	chr11	10789381	10789381	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatgcttggtctttgattgGcaatcttcatttggcaaaac	9	7	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:10789381G>T	uc001mja.2	+	14	1864	c.1715G>T	c.(1714-1716)GGC>GTC	p.G572V		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	572	TPR 12.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TCTTTGATTGGCAATCTTCAT	0.393													T	10789381	G	T	10789381	3	4	19	1	0	0	0	0	1	0	0	0	4024	1203	42	5	1769	5	CTR9	11	10789381	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	4159	10789381	124217135	1810	16109											
CTR9	9646	broad.mit.edu	37	chr11	10789658	10789658	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgctctggccatctacaAacaagtactcagaaatgatg	8	10	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:10789658A>G	uc001mja.2	+	15	2059	c.1910A>G	c.(1909-1911)AAA>AGA	p.K637R		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	637	TPR 13.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GCCATCTACAAACAAGTACTC	0.348													G	10789658	A	G	10789658	3	3	19	1	0	0	0	0	1	0	0	0	4024	14	1	3	1968	3	CTR9	11	10789658	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	277	10789658	124216858	1811	16110											
MICAL2	9645	broad.mit.edu	37	chr11	12234853	12234853	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgattgccatcaccgccaActtcataaacagaaacagca	7	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:12234853A>C	uc001mjz.2	+	7	1031	c.743A>C	c.(742-744)AAC>ACC	p.N248T	MICAL2_uc010rch.1_Missense_Mutation_p.N248T|MICAL2_uc001mka.2_Missense_Mutation_p.N248T|MICAL2_uc010rci.1_Missense_Mutation_p.N248T|MICAL2_uc001mkb.2_Missense_Mutation_p.N248T|MICAL2_uc001mkc.2_Missense_Mutation_p.N248T|MICAL2_uc001mkd.2_Missense_Mutation_p.N77T|MICAL2_uc001mke.2_5'Flank	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	248						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		ATCACCGCCAACTTCATAAAC	0.438													C	12234853	A	C	12234853	3	2	19	1	0	0	0	0	1	0	0	0	9570	43	2	5	761	5	MICAL2	11	12234853	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1445195	12234853	122771663	1812	16111											
MICAL2	9645	broad.mit.edu	37	chr11	12237834	12237834	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtaatgacagccaagaagCagagcctgctcgacaaaggt	11	9	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:12237834C>T	uc001mjz.2	+	8	1204	c.916C>T	c.(916-918)CAG>TAG	p.Q306*	MICAL2_uc010rch.1_Nonsense_Mutation_p.Q306*|MICAL2_uc001mka.2_Nonsense_Mutation_p.Q306*|MICAL2_uc010rci.1_Nonsense_Mutation_p.Q306*|MICAL2_uc001mkb.2_Nonsense_Mutation_p.Q306*|MICAL2_uc001mkc.2_Nonsense_Mutation_p.Q306*|MICAL2_uc001mkd.2_Nonsense_Mutation_p.Q135*|MICAL2_uc001mke.2_5'Flank	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	306						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		AGCCAAGAAGCAGAGCCTGCT	0.478													T	12237834	C	T	12237834	4	4	19	1	0	0	0	0	0	1	0	0	9570	711	25	2	938	2	MICAL2	11	12237834	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2981	12237834	122768682	1813	16112											
SOX6	55553	broad.mit.edu	37	chr11	16077437	16077437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgctggccagctgagcgGcatagagctgctgcaaaaca	13	11	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:16077437G>A	uc001mme.2	-	10	1184	c.1151C>T	c.(1150-1152)GCC>GTC	p.A384V	SOX6_uc001mmd.2_Missense_Mutation_p.A333V|SOX6_uc001mmf.2_Missense_Mutation_p.A330V|SOX6_uc001mmg.2_Missense_Mutation_p.A371V	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	371					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						CAGCTGAGCGGCATAGAGCTG	0.448													A	16077437	G	A	16077437	3	1	19	1	0	0	0	0	1	0	0	0	14955	1203	42	2	1444	2	SOX6	11	16077437	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3839603	16077437	118929079	1814	16113											
PLEKHA7	144100	broad.mit.edu	37	chr11	16816142	16816142	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgcagctgggggaagagtcGaacctccagaggggtccgca	16	10	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:16816142G>A	uc001mmo.2	-	19	2653	c.2638C>T	c.(2638-2640)CGA>TGA	p.R880*	PLEKHA7_uc010rcu.1_Nonsense_Mutation_p.R880*|PLEKHA7_uc001mmm.2_5'Flank|PLEKHA7_uc010rcv.1_Nonsense_Mutation_p.R454*|PLEKHA7_uc001mmn.2_Nonsense_Mutation_p.R588*	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	880	Pro-rich.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						GGGAAGAGTCGAACCTCCAGA	0.622													A	16816142	G	A	16816142	4	1	19	1	0	0	0	0	0	1	0	0	12061	1066	37	1	747	1	PLEKHA7	11	16816142	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	738705	16816142	118190374	1815	16114											
PIK3C2A	5286	broad.mit.edu	37	chr11	17112907	17112908	+	Frame_Shift_Ins	INS	-	-	T													ttgaatgtcggattcctcgtINSttttcgtgaaattttggttt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:17112906_17112907G>GT	uc001mmq.4	-	30	4917_4918	c.4852_4853C>AC	c.(4852-4854)acgfs	p.T1618fs	PIK3C2A_uc009ygu.1_Frame_Shift_Ins_p.T221fs|PIK3C2A_uc010rcw.2_Frame_Shift_Ins_p.T1238fs|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	1618	C2.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CGGATTCCTCGTTTTTCGTGAA	0.332													T	17112908	-	T	17112907	7	5	19	1	0	1	1	0	0	0	0	0	11909	1725	60	0	216	0	PIK3C2A	11	17112907	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	296765	17112907	117893609	1816	16115											
PIK3C2A	5286	broad.mit.edu	37	chr11	17150966	17150966	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attccaaaaagagtaaggtgAagaactgattctaatggcaa	9	5	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:17150966A>G	uc001mmq.3	-	12	2346	c.2280T>C	c.(2278-2280)CTT>CTC	p.L760L	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Silent_p.L380L|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	760					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	GAGTAAGGTGAAGAACTGATT	0.343													G	17150966	A	G	17150966	2	3	19	1	0	0	0	0	0	0	0	1	11909	233	9	3		3	PIK3C2A	11	17150966	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	38059	17150966	117855550	1817	16116											
KCNJ11	3767	broad.mit.edu	37	chr11	17408964	17408964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccacctcgccctcgggGctggtggtcttgcgtaccac	13	16	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:17408964G>A	uc001mna.2	-	1	1243	c.675C>T	c.(673-675)AGC>AGT	p.S225S	KCNJ11_uc001mnb.3_Silent_p.S138S	NM_000525	NP_000516	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel J11	225						integral to membrane	ATP-activated inward rectifier potassium channel activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		CGCCCTCGGGGCTGGTGGTCT	0.637											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	17408964	G	A	17408964	2	1	19	1	0	0	0	0	0	0	0	1	8045	1194	42	2		2	KCNJ11	11	17408964	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	257998	17408964	117597552	1818	16117											
ABCC8	6833	broad.mit.edu	37	chr11	17428579	17428579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaggagcaggatgccggcGgaggacaggtacttggcgca	18	9	0	0	rs149279510		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:17428579G>A	uc001mnc.2	-	25	3144	c.3018C>T	c.(3016-3018)TCC>TCT	p.S1006S		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1006	Helical; Name=12; (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGATGCCGGCGGAGGACAGGT	0.622													A	17428579	G	A	17428579	2	1	19	1	0	0	0	0	0	0	0	1	58	1103	39	1		1	ABCC8	11	17428579	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	19615	17428579	117577937	1819	16118											
KCNC1	3746	broad.mit.edu	37	chr11	17793376	17793376	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgagacggaggccttcctTacctacatcgagggcgtctg	13	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:17793376T>C	uc001mnk.3	+	2	790	c.735T>C	c.(733-735)CTT>CTC	p.L245L	KCNC1_uc009yhc.1_Silent_p.L245L	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	245						voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						AGGCCTTCCTTACCTACATCG	0.557													C	17793376	T	C	17793376	2	2	19	1	0	0	0	0	0	0	0	1	8014	1741	61	3		3	KCNC1	11	17793376	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	364797	17793376	117213140	1820	16119											
KCNC1	3746	broad.mit.edu	37	chr11	17793706	17793706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatcttcctggccttgggCgtgctgatcttcgccaccat	9	14	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:17793706C>T	uc001mnk.3	+	2	1120	c.1065C>T	c.(1063-1065)GGC>GGT	p.G355G	KCNC1_uc009yhc.1_Silent_p.G355G	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	355	Helical; Name=Segment S5; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						TGGCCTTGGGCGTGCTGATCT	0.602													T	17793706	C	T	17793706	2	4	19	1	0	0	0	0	0	0	0	1	8014	755	27	1		1	KCNC1	11	17793706	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	330	17793706	117212810	1821	16120											
MRGPRX4	117196	broad.mit.edu	37	chr11	18195607	18195607	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctaaacagtagtgccaaCcccatcatttacttcttcgt	4	13	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:18195607C>T	uc001mnv.1	+	1	1224	c.804C>T	c.(802-804)AAC>AAT	p.N268N		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	268	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						GTAGTGCCAACCCCATCATTT	0.488													T	18195607	C	T	18195607	2	4	19	1	0	0	0	0	0	0	0	1	9769	506	18	4		4	MRGPRX4	11	18195607	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	401901	18195607	116810909	1822	16121											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955770	18955771	+	Frame_Shift_Del	DEL	AT	AT	-													ggacccacagagaaccacacAtaaaaaaatcagccacgcga							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:18955769_18955770CAT>C	uc001mpg.3	-	0	780_781	c.562_563ATG>G	c.(562-564)tgtfs	p.C188fs		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	188					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAGAACCACACATAAAAAAATC	0.51													-	18955771	AT	-	18955770	7	5	19	1	0	1	0	1	0	0	0	0	9766	217	8	0	410	0	MRGPRX1	11	18955770	Frame_Shift_Del	DEL	AT	TCGA-BR-4361-01A-01D-1158-08	760163	18955770	116050746	1823	16122											
NAV2	89797	broad.mit.edu	37	chr11	19954827	19954827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactaattgcagtacctcctCggccatcccgcagcccggtg	9	16	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:19954827C>T	uc010rdm.1	+	8	1467	c.1106C>T	c.(1105-1107)TCG>TTG	p.S369L	NAV2_uc001mpp.2_Missense_Mutation_p.S282L|NAV2_uc001mpr.3_Missense_Mutation_p.S346L	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	369						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						AGTACCTCCTCGGCCATCCCG	0.607													T	19954827	C	T	19954827	3	4	19	1	0	0	0	0	1	0	0	0	10184	893	31	1	1142	1	NAV2	11	19954827	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	999057	19954827	115051689	1824	16123											
DBX1	120237	broad.mit.edu	37	chr11	20177851	20177851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgggactgctcgagtgcGcgggcgaggggggcagcggc	21	12	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:20177851G>A	uc001mpw.1	-	4	1058	c.1058C>T	c.(1057-1059)GCG>GTG	p.A353V		NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	314					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCTCGAGTGCGCGGGCGAGGG	0.706													A	20177851	G	A	20177851	3	1	19	1	0	0	0	0	1	0	0	0	4259	1087	38	1	94	1	DBX1	11	20177851	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	223024	20177851	114828665	1825	16124											
NELL1	4745	broad.mit.edu	37	chr11	20699478	20699478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactctttgttcctttccagTggtgggctttgggatggacc	12	9	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:20699478T>C	uc001mqe.2	+	2	209	c.56T>C	c.(55-57)GTG>GCG	p.V19A	NELL1_uc001mqf.2_Missense_Mutation_p.V19A|NELL1_uc009yid.2_Missense_Mutation_p.V47A|NELL1_uc010rdo.1_Missense_Mutation_p.V19A|NELL1_uc010rdp.1_5'UTR	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	19					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						TCCTTTCCAGTGGTGGGCTTT	0.502													C	20699478	T	C	20699478	3	2	19	1	0	0	0	0	1	0	0	0	10333	1710	59	3	62	3	NELL1	11	20699478	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	521627	20699478	114307038	1826	16125											
NELL1	4745	broad.mit.edu	37	chr11	20959366	20959366	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaaaagttcttgcagaAggccagcggattttaaccaa	12	7	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:20959366A>C	uc001mqe.2	+	10	1185	c.1032A>C	c.(1030-1032)GAA>GAC	p.E344D	NELL1_uc001mqf.2_Missense_Mutation_p.E344D|NELL1_uc009yid.2_Missense_Mutation_p.E372D|NELL1_uc010rdo.1_Missense_Mutation_p.E287D|NELL1_uc010rdp.1_Missense_Mutation_p.E104D	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	344	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						TTCTTGCAGAAGGCCAGCGGA	0.418													C	20959366	A	C	20959366	3	2	19	1	0	0	0	0	1	0	0	0	10333	69	3	5	1070	5	NELL1	11	20959366	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	259888	20959366	114047150	1827	16126											
ANO5	203859	broad.mit.edu	37	chr11	22284591	22284591	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaaagaagccatttatccgTatgtatgacttacaagcttt	6	7	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:22284591T>C	uc001mqi.2	+	17	2215	c.1898_splice	c.e17+2	p.P633_splice	ANO5_uc001mqj.2_Splice_Site_p.P632_splice	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a							chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						CATTTATCCGTATGTATGACT	0.343													C	22284591	T	C	22284591	5	2	19	1	0	0	0	0	0	0	1	0	700	1652	57	3	1966	3	ANO5	11	22284591	Splice_Site	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1325225	22284591	112721925	1828	16127											
ANO5	203859	broad.mit.edu	37	chr11	22294393	22294393	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggctcctcttcttgctcTcataaataatattgtagaga	6	8	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:22294393T>C	uc001mqi.2	+	19	2410	c.2093T>C	c.(2092-2094)CTC>CCC	p.L698P	ANO5_uc001mqj.2_Missense_Mutation_p.L697P	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	698	Helical; (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						CTTCTTGCTCTCATAAATAAT	0.378													C	22294393	T	C	22294393	3	2	19	1	0	0	0	0	1	0	0	0	700	1551	54	3	2167	3	ANO5	11	22294393	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	9802	22294393	112712123	1829	16128											
KIF18A	81930	broad.mit.edu	37	chr11	28104461	28104461	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcttggtcattttcatTagtgaaggctttctgttctt	8	7	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:28104461T>C	uc001msc.2	-	9	1386	c.1204A>G	c.(1204-1206)AAT>GAT	p.N402D		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	402	Potential.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			ovary(2)	2						TCATTTTCATTAGTGAAGGCT	0.279													C	28104461	T	C	28104461	3	2	19	1	0	0	0	0	1	0	0	0	8280	1754	61	3	1528	3	KIF18A	11	28104461	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	5810068	28104461	106902055	1830	16129											
KIF18A	81930	broad.mit.edu	37	chr11	28112997	28112997	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgaccacccctttttgggTatcttcccggacagcaagtg	9	13	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:28112997T>C	uc001msc.2	-	4	729	c.547A>G	c.(547-549)ACC>GCC	p.T183A		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	183	Kinesin-motor.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			ovary(2)	2						CCTTTTTGGGTATCTTCCCGG	0.353													C	28112997	T	C	28112997	3	2	19	1	0	0	0	0	1	0	0	0	8280	1638	57	3	2205	3	KIF18A	11	28112997	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	8536	28112997	106893519	1831	16130											
MPPED2	744	broad.mit.edu	37	chr11	30435828	30435828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggactcgcctctgaaccGtgtttaacagctccacacag	9	15	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:30435828G>A	uc001msr.2	-	5	833	c.713C>T	c.(712-714)ACG>ATG	p.T238M	MPPED2_uc001msq.3_Missense_Mutation_p.T238M|MPPED2_uc009yji.2_Missense_Mutation_p.T112M	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	238					nervous system development		hydrolase activity|metal ion binding			skin(1)	1						CCTCTGAACCGTGTTTAACAG	0.458													A	30435828	G	A	30435828	3	1	19	1	0	0	0	0	1	0	0	0	9742	1145	40	1	251	1	MPPED2	11	30435828	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2322831	30435828	104570688	1832	16131											
MPPED2	744	broad.mit.edu	37	chr11	30517060	30517060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactattttatattcatatgGcaggtttcctgaaataagaa	6	6	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:30517060G>A	uc001msr.2	-	3	439	c.319C>T	c.(319-321)CCA>TCA	p.P107S	MPPED2_uc001msq.3_Missense_Mutation_p.P107S|MPPED2_uc009yji.2_5'UTR	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	107					nervous system development		hydrolase activity|metal ion binding			skin(1)	1						TATTCATATGGCAGGTTTCCT	0.413													A	30517060	G	A	30517060	3	1	19	1	0	0	0	0	1	0	0	0	9742	1203	42	2	653	2	MPPED2	11	30517060	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	81232	30517060	104489456	1833	16132											
ELP4	26610	broad.mit.edu	37	chr11	31616422	31616422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaagatgaaaatagcttggCgttaccagttattacccaag	8	7	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:31616422C>T	uc001mtb.2	+	4	522	c.487C>T	c.(487-489)CGT>TGT	p.R163C	ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Missense_Mutation_p.R163C|ELP4_uc010rdz.1_Missense_Mutation_p.R163C	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN	elongation protein 4 homolog	163					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3	Lung SC(675;0.225)					AATAGCTTGGCGTTACCAGTT	0.313													T	31616422	C	T	31616422	3	4	19	1	0	0	0	0	1	0	0	0	5082	768	27	1	501	1	ELP4	11	31616422	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1099362	31616422	103390094	1834	16133											
CSTF3	1479	broad.mit.edu	37	chr11	33117933	33117933	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttagccccagctcaaaaaTcttaaaggcaacagatttgt	6	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:33117933T>A	uc001muh.2	-	15	1460	c.1294A>T	c.(1294-1296)ATT>TTT	p.I432F	TCP11L1_uc001muf.1_Intron	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	cleavage stimulation factor subunit 3 isoform 1	432					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding				0						AGCTCAAAAATCTTAAAGGCA	0.333													A	33117933	T	A	33117933	3	1	19	1	0	0	0	0	1	0	0	0	3986	1435	50	5	887	5	CSTF3	11	33117933	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1501511	33117933	101888583	1835	16134											
CSTF3	1479	broad.mit.edu	37	chr11	33127542	33127542	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattaaaaagttttaactctAcctgataggacataatttcc	4	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:33127542A>G	uc001muh.2	-	6	589	c.423_splice	c.e6+1	p.Q141_splice		NM_001326	NP_001317	Q12996	CSTF3_HUMAN	cleavage stimulation factor subunit 3 isoform 1						mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding				0						TTTTAACTCTACCTGATAGGA	0.289													G	33127542	A	G	33127542	5	3	19	1	0	0	0	0	0	0	1	0	3986	405	14	3	1792	3	CSTF3	11	33127542	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	9609	33127542	101878974	1836	16135											
HIPK3	10114	broad.mit.edu	37	chr11	33369426	33369426	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttcatgcagcaatcattatAactcagtgatgccgcagcct	7	11	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:33369426A>T	uc001mul.1	+	11	2443	c.2173A>T	c.(2173-2175)AAC>TAC	p.N725Y	HIPK3_uc001mum.1_Missense_Mutation_p.N725Y|HIPK3_uc009yjv.1_Missense_Mutation_p.N725Y	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	725					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						CAATCATTATAACTCAGTGAT	0.423													T	33369426	A	T	33369426	3	4	19	1	0	0	0	0	1	0	0	0	7118	362	13	5	2211	5	HIPK3	11	33369426	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	241884	33369426	101637090	1837	16136											
NAT10	55226	broad.mit.edu	37	chr11	34130297	34130297	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttggcaggtggtaatActtcatcacatgttatccaa	8	7	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:34130297A>G	uc001mvk.2	+	3	361	c.117A>G	c.(115-117)ATA>ATG	p.I39M	NAT10_uc010ren.1_Intron	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 isoform a	39						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				AGGTGGTAATACTTCATCACA	0.279													G	34130297	A	G	34130297	3	3	19	1	0	0	0	0	1	0	0	0	10174	381	14	3	123	3	NAT10	11	34130297	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	760871	34130297	100876219	1838	16137											
ABTB2	25841	broad.mit.edu	37	chr11	34194790	34194790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccacggtgaggctgcggcGgtgctctgcgtaggtgatgg	19	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:34194790G>A	uc001mvl.1	-	4	981	c.751C>T	c.(751-753)CGC>TGC	p.R251C		NM_145804	NP_665803	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing	251							DNA binding			central_nervous_system(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				AGGCTGCGGCGGTGCTCTGCG	0.672													A	34194790	G	A	34194790	3	1	19	1	0	0	0	0	1	0	0	0	103	1116	39	1	1824	1	ABTB2	11	34194790	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	64493	34194790	100811726	1839	16138											
TRIM44	54765	broad.mit.edu	37	chr11	35685113	35685113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accaagaagaaggggaatccGaggcggagggagaaactgag	17	6	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:35685113G>A	uc001mwi.2	+	1	761	c.454G>A	c.(454-456)GAG>AAG	p.E152K		NM_017583	NP_060053	Q96DX7	TRI44_HUMAN	DIPB protein	152	Glu-rich.					intracellular	protein binding|zinc ion binding			skin(1)	1	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				aggggaatccgaggcggaggg	0.209													A	35685113	G	A	35685113	3	1	19	1	0	0	0	0	1	0	0	0	16516	1059	37	1	456	1	TRIM44	11	35685113	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1490323	35685113	99321403	1840	16139											
ALKBH3	221120	broad.mit.edu	37	chr11	43908177	43908177	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agagagggtgtgtatgaaatCagcctgtcacccacaggtgt	13	8	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:43908177C>T	uc001mxs.2	+	5	683	c.240C>T	c.(238-240)ATC>ATT	p.I80I	ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_5'UTR	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN	AlkB homolog 3	80					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)	TGTATGAAATCAGCCTGTCAC	0.388								Direct_reversal_of_damage					T	43908177	C	T	43908177	2	4	19	1	0	0	0	0	0	0	0	1	528	816	29	4		4	ALKBH3	11	43908177	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	8223064	43908177	91098339	1841	16140											
EXT2	2132	broad.mit.edu	37	chr11	44255775	44255775	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctggtggccaacgtcacGggaaaagcagttatcaaggt	12	9	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:44255775G>A	uc001mxz.2	+	12	2251	c.1917G>A	c.(1915-1917)ACG>ACA	p.T639T	EXT2_uc010rfo.1_Silent_p.T667T|EXT2_uc001mxy.2_Silent_p.T652T|EXT2_uc009ykt.2_Silent_p.T649T|EXT2_uc001mya.2_Silent_p.T672T	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	639	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			lung(2)|breast(2)|skin(1)	5						CCAACGTCACGGGAAAAGCAG	0.284			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses				A	44255775	G	A	44255775	2	1	19	1	0	0	0	0	0	0	0	1	5324	1103	39	1		1	EXT2	11	44255775	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	347598	44255775	90750741	1842	16141											
GYLTL1B	120071	broad.mit.edu	37	chr11	45947886	45947886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgctgctactctgaggcGtctgacctcaaggtgagtgg	15	10	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:45947886G>A	uc001nbv.1	+	8	1107	c.996G>A	c.(994-996)GCG>GCA	p.A332A	GYLTL1B_uc001nbw.1_Silent_p.A301A|GYLTL1B_uc001nbx.1_Silent_p.A332A|GYLTL1B_uc001nby.1_5'Flank|GYLTL1B_uc001nbz.1_5'Flank	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	332	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)		ACTCTGAGGCGTCTGACCTCA	0.617													A	45947886	G	A	45947886	2	1	19	1	0	0	0	0	0	0	0	1	6907	1132	40	1		1	GYLTL1B	11	45947886	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1692111	45947886	89058630	1843	16142											
DGKZ	8525	broad.mit.edu	37	chr11	46394198	46394198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgcaaagtgcacaacctgCggatcctggcgtgcgggggc	15	13	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:46394198C>T	uc001ncn.1	+	13	1731	c.1606C>T	c.(1606-1608)CGG>TGG	p.R536W	DGKZ_uc001nch.1_Missense_Mutation_p.R364W|DGKZ_uc010rgq.1_Missense_Mutation_p.R291W|DGKZ_uc001ncj.1_Missense_Mutation_p.R314W|DGKZ_uc010rgr.1_Missense_Mutation_p.R313W|DGKZ_uc001nck.1_Missense_Mutation_p.R126W|DGKZ_uc001ncl.2_Missense_Mutation_p.R348W|DGKZ_uc001ncm.2_Missense_Mutation_p.R347W|DGKZ_uc009yky.1_Missense_Mutation_p.R348W|DGKZ_uc010rgs.1_Missense_Mutation_p.R325W	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	diacylglycerol kinase zeta isoform 4	536	DAGKc.|Mediates interaction with RASGRP1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			pancreas(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GCACAACCTGCGGATCCTGGC	0.662													T	46394198	C	T	46394198	3	4	19	1	0	0	0	0	1	0	0	0	4474	759	27	1	2099	1	DGKZ	11	46394198	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	446312	46394198	88612318	1844	16143											
CKAP5	9793	broad.mit.edu	37	chr11	46829614	46829614	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttactaaatctgcataatcGccagcttccagtttggggtt	8	9	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:46829614G>A	uc001ndi.1	-	8	1055	c.945C>T	c.(943-945)GGC>GGT	p.G315G	CKAP5_uc009ylg.1_Silent_p.G201G|CKAP5_uc001ndj.1_Silent_p.G315G	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	315					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						CTGCATAATCGCCAGCTTCCA	0.393													A	46829614	G	A	46829614	2	1	19	1	0	0	0	0	0	0	0	1	3445	1074	38	1		1	CKAP5	11	46829614	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	435416	46829614	88176902	1845	16144											
ARFGAP2	84364	broad.mit.edu	37	chr11	47198140	47198140	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacaagaaaacaccgtacgTgatgctggcccaactcggat	10	12	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:47198140T>C	uc001ndt.2	-	2	133	c.118A>G	c.(118-120)ACG>GCG	p.T40A	ARFGAP2_uc010rha.1_5'Flank|ARFGAP2_uc010rhb.1_Missense_Mutation_p.T40A|ARFGAP2_uc001ndu.2_Missense_Mutation_p.T40A|ARFGAP2_uc010rhc.1_5'UTR|ARFGAP2_uc010rhd.1_Missense_Mutation_p.T40A|ARFGAP2_uc001ndv.1_Missense_Mutation_p.T40A	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating	40	C4-type.|Arf-GAP.			T -> M (in Ref. 1; BAB55144).	protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			ovary(1)	1						ACACCGTACGTGATGCTGGCC	0.622													C	47198140	T	C	47198140	3	2	19	1	0	0	0	0	1	0	0	0	850	1696	59	3	1507	3	ARFGAP2	11	47198140	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	368526	47198140	87808376	1846	16145											
SPI1	6688	broad.mit.edu	37	chr11	47399860	47399861	+	Frame_Shift_Ins	INS	-	-	G													gaggagtcccggtactcacaINSggggggacgaggggaaaccc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:47399860_47399861insG	uc001nfc.1	-	1	267_268	c.44_45insC	c.(43-45)CCTfs	p.P15fs	SPI1_uc001nfb.1_Frame_Shift_Ins_p.P15fs|SLC39A13_uc001nfd.2_Intron|SPI1_uc009ylp.1_Frame_Shift_Ins_p.P9fs	NM_003120	NP_003111	P17947	SPI1_HUMAN	hematopoietic transcription factor PU.1 isoform	15					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)	2				Lung(87;0.0967)		CGGTACTCACAGGGGGGACGAG	0.683													G	47399861	-	G	47399860	7	5	19	1	0	1	1	0	0	0	0	0	15048	202	7	0	790	0	SPI1	11	47399860	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	201720	47399860	87606656	1847	16146	53	2									
SPI1	6688	broad.mit.edu	37	chr11	47399861	47399862	+	Splice_Site	INS	-	-	G													aggagtcccggtactcacagINSgggggacgaggggaaaccct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:47399860_47399861A>AG	uc001nfb.1	-	1	268	c.45_splice	c.e1+1	p.P15_splice	SPI1_uc001nfc.1_Splice_Site_p.P15_splice|SLC39A13_uc001nfd.3_Intron|SPI1_uc009ylp.1_Splice_Site_p.P9_splice	NM_001080547	NP_001074016	P17947	SPI1_HUMAN	Homo sapiens spleen focus forming virus (SFFV) proviral integration oncogene spi1 (SPI1), transcript variant 1, mRNA.	15					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	RNA binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		CGGTACTCACAGGGGGGACGAG	0.683													G	47399862	-	G	47399861	8	5	19	1	0	1	1	0	0	0	1	0	15048	1014	35	0	791	0	SPI1	11	47399861	Splice_Site	INS	-	TCGA-BR-4361-01A-01D-1158-08	1	47399861	87606655	1848	16147	53	2									
C1QTNF4	114900	broad.mit.edu	37	chr11	47612348	47612348	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggcccagcaggcccagCagaagcggcagcatggcgcc	16	15	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:47612348C>T	uc001ngc.2	-	2	282	c.15G>A	c.(13-15)CTG>CTA	p.L5L		NM_031909	NP_114115	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	5						extracellular region					0						GCAGGCCCAGCAGAAGCGGCA	0.741													T	47612348	C	T	47612348	2	4	19	1	0	0	0	0	0	0	0	1	1965	697	25	2		2	C1QTNF4	11	47612348	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	212487	47612348	87394168	1849	16148											
MTCH2	23788	broad.mit.edu	37	chr11	47653245	47653245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggtagcagcagaacgagCgatcatctctcgagttgtct	13	9	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:47653245C>T	uc010rho.1	-	6	577	c.388G>A	c.(388-390)GCT>ACT	p.A130T	MTCH2_uc001nge.2_Missense_Mutation_p.A3T|MTCH2_uc010rhp.1_Intron	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	130	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane					0						GCAGAACGAGCGATCATCTCT	0.428													T	47653245	C	T	47653245	3	4	19	1	0	0	0	0	1	0	0	0	9914	768	27	1	555	1	MTCH2	11	47653245	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	40897	47653245	87353271	1850	16149											
AGBL2	79841	broad.mit.edu	37	chr11	47712295	47712295	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggttttagcaagttgacaaTggtgaagcgataggtagcat	14	4	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:47712295T>C	uc001ngg.2	-	9	1064	c.964A>G	c.(964-966)ATT>GTT	p.I322V	AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.I284V|AGBL2_uc001ngh.1_Missense_Mutation_p.I266V	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	322					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						AAGTTGACAATGGTGAAGCGA	0.443													C	47712295	T	C	47712295	3	2	19	1	0	0	0	0	1	0	0	0	376	1464	51	3	1784	3	AGBL2	11	47712295	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	59050	47712295	87294221	1851	16150											
NUP160	23279	broad.mit.edu	37	chr11	47806489	47806489	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaccttgtaactgtttatAagccaattaggcagaggcac	8	8	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:47806489A>G	uc001ngm.2	-	33	4060	c.3975T>C	c.(3973-3975)CTT>CTC	p.L1325L	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	1325					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						AACTGTTTATAAGCCAATTAG	0.378													G	47806489	A	G	47806489	2	3	19	1	0	0	0	0	0	0	0	1	10757	349	13	3		3	NUP160	11	47806489	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	94194	47806489	87200027	1852	16151											
PTPRJ	5795	broad.mit.edu	37	chr11	48158680	48158680	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttattgagaaggctggaaatTccagcaacgcaacacaagta	9	8	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:48158680T>C	uc001ngp.3	+	10	2354	c.1999T>C	c.(1999-2001)TCC>CCC	p.S667P	PTPRJ_uc010rhr.1_Missense_Mutation_p.S112P	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	667	Extracellular (Potential).|Fibronectin type-III 7.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						GGCTGGAAATTCCAGCAACGC	0.453													C	48158680	T	C	48158680	3	2	19	1	0	0	0	0	1	0	0	0	12804	1783	62	3	2046	3	PTPRJ	11	48158680	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	352191	48158680	86847836	1853	16152											
OR4B1	119765	broad.mit.edu	37	chr11	48238713	48238713	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgattgtggtgatggccTatgattgctacgtggccatt	12	6	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:48238713T>C	uc010rhs.1	+	1	352	c.352T>C	c.(352-354)TAT>CAT	p.Y118H		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B,	118	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|pancreas(1)	4						GGTGATGGCCTATGATTGCTA	0.468													C	48238713	T	C	48238713	3	2	19	1	0	0	0	0	1	0	0	0	11044	1522	53	3	354	3	OR4B1	11	48238713	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	80033	48238713	86767803	1854	16153											
OR4P4	81300	broad.mit.edu	37	chr11	55406147	55406147	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actctttaccacccatttttTtggaggcatagagatcttca	6	10	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:55406147T>G	uc010rij.1	+	1	314	c.314T>G	c.(313-315)TTT>TGT	p.F105C		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P,	105	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						ACCCATTTTTTTGGAGGCATA	0.428													G	55406147	T	G	55406147	3	3	19	1	0	0	0	0	1	0	0	0	11080	1841	64	5	316	5	OR4P4	11	55406147	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	7167434	55406147	79600369	1855	16154											
OR4C6	219432	broad.mit.edu	37	chr11	55432731	55432731	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatattttctgctgtgtttcTtgtcatgtatgtagccacag	8	7	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:55432731T>A	uc001nht.3	+	3	354	c.89T>A	c.(88-90)CTT>CAT	p.L30H	OR4C6_uc010rik.1_Missense_Mutation_p.L30H	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						GCTGTGTTTCTTGTCATGTAT	0.378													A	55432731	T	A	55432731	3	1	19	1	0	0	0	0	1	0	0	0	11052	1609	56	5	91	5	OR4C6	11	55432731	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	26584	55432731	79573785	1856	16155											
OR8J3	81168	broad.mit.edu	37	chr11	55905019	55905019	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtctcaggaaaaagtacAtggggttttgaagtcgagag	14	4	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:55905019A>G	uc010riz.1	-	1	176	c.176T>C	c.(175-177)ATG>ACG	p.M59T		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	59	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					GAAAAAGTACATGGGGTTTTG	0.458													G	55905019	A	G	55905019	3	3	19	1	0	0	0	0	1	0	0	0	11242	217	8	3	773	3	OR8J3	11	55905019	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	472288	55905019	79101497	1857	16156											
OR5M10	390167	broad.mit.edu	37	chr11	56344778	56344778	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtgaccagagagatgcaAatgttcttggacatcctgga	11	8	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:56344778A>G	uc001niz.1	-	1	420	c.420T>C	c.(418-420)ATT>ATC	p.I140I		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	140	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GAGAGATGCAAATGTTCTTGG	0.448													G	56344778	A	G	56344778	2	3	19	1	0	0	0	0	0	0	0	1	11173	10	1	3		3	OR5M10	11	56344778	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	439759	56344778	78661738	1858	16157											
OR9G4	283189	broad.mit.edu	37	chr11	56510841	56510841	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagggcggtggacatggtAcctgaataaagcaatgggtt	15	6	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:56510841A>G	uc010rjo.1	-	1	447	c.447T>C	c.(445-447)GGT>GGC	p.G149G		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	149	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						TGGACATGGTACCTGAATAAA	0.478													G	56510841	A	G	56510841	2	3	19	1	0	0	0	0	0	0	0	1	11251	378	14	3		3	OR9G4	11	56510841	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	166063	56510841	78495675	1859	16158											
LRRC55	219527	broad.mit.edu	37	chr11	56950045	56950045	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcctggaggctcttgaGggcctaccggggctggtgac	16	12	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:56950045G>T	uc001njl.1	+	1	825	c.678G>T	c.(676-678)GAG>GAT	p.E226D		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	196	LRR 5.					integral to membrane					0						AGGCTCTTGAGGGCCTACCGG	0.647													T	56950045	G	T	56950045	3	4	19	1	0	0	0	0	1	0	0	0	9011	991	35	5	680	5	LRRC55	11	56950045	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	439204	56950045	78056471	1860	16159											
LRRC55	219527	broad.mit.edu	37	chr11	56950151	56950151	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccggatccagcgctgtAcagcaggtaatagaggggca	14	9	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:56950151A>G	uc001njl.1	+	1	931	c.784A>G	c.(784-786)ACA>GCA	p.T262A		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	232	LRRCT.					integral to membrane					0						CCAGCGCTGTACAGCAGGTAA	0.597													G	56950151	A	G	56950151	3	3	19	1	0	0	0	0	1	0	0	0	9011	391	14	3	786	3	LRRC55	11	56950151	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	106	56950151	78056365	1861	16160											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57077906	57077906	+	Frame_Shift_Del	DEL	C	C	-													ggtctcctctagggcttgcaCccccaaggccatagtcctga							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:57077905_57077905AC>A	uc001njr.3	-	4	2592	c.2280_2280GT>T	c.(2278-2280)ggtfs	p.G760fs	TNKS1BP1_uc001njs.3_Frame_Shift_Del_p.G760fs|TNKS1BP1_uc009ymd.1_Frame_Shift_Del_p.G211fs	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	760	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TAGGGCTTGCACCCCCAAGGC	0.592													-	57077906	C	-	57077906	7	5	19	1	0	1	0	1	0	0	0	0	16317	507	18	0	2934	0	TNKS1BP1	11	57077906	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	127755	57077906	77928610	1862	16161											
PRG3	10394	broad.mit.edu	37	chr11	57146978	57146978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actacttacctgagcttctgCaaaagttttaggagtccgca	8	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:57146978C>T	uc001njv.1	-	3	474	c.364G>A	c.(364-366)GCA>ACA	p.A122T		NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3 precursor	122	C-type lectin.				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding				0						TGAGCTTCTGCAAAAGTTTTA	0.483													T	57146978	C	T	57146978	3	4	19	1	0	0	0	0	1	0	0	0	12480	710	25	2	329	2	PRG3	11	57146978	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	69072	57146978	77859538	1863	16162											
PRG3	10394	broad.mit.edu	37	chr11	57147266	57147266	+	Frame_Shift_Del	DEL	G	G	-													tgtctctaggctctccagatGgggggcatcattctctggga							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:57147265_57147265TG>T	uc001njv.2	-	2	187	c.77_77CA>A	c.(76-78)catfs	p.H26fs		NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	Homo sapiens proteoglycan 3 (PRG3), mRNA.	26					basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						GCTCTCCAGATGGGGGGCATC	0.557													-	57147266	G	-	57147266	7	5	19	1	0	1	0	1	0	0	0	0	12480	1348	47	0	617	0	PRG3	11	57147266	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	288	57147266	77859250	1864	16163											
RTN4RL2	349667	broad.mit.edu	37	chr11	57244233	57244233	+	Frame_Shift_Del	DEL	G	G	-													gcctactgaggacgactactGggggggctacgggggtgagg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:57244233delG	uc010rjt.1	+	3	1112	c.1112delG	c.(1111-1113)TGGfs	p.W371fs		NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2 precursor	371					axon regeneration	anchored to plasma membrane	receptor activity				0						GACGACTACTGGGGGGGCTAC	0.756													-	57244233	G	-	57244233	7	5	19	1	0	1	0	1	0	0	0	0	13732	1357	47	0	1122	0	RTN4RL2	11	57244233	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	96967	57244233	77762283	1865	16164											
OR5B12	390191	broad.mit.edu	37	chr11	58207279	58207279	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcatagcggtcataggccaTtgatgccaggaggaaacttt	12	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:58207279T>A	uc010rkh.1	-	1	346	c.346A>T	c.(346-348)ATG>TTG	p.M116L		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B,	116	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCATAGGCCATTGATGCCAGG	0.438													A	58207279	T	A	58207279	3	1	19	1	0	0	0	0	1	0	0	0	11148	1493	52	5	602	5	OR5B12	11	58207279	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	963046	58207279	76799237	1866	16165											
FAM111B	374393	broad.mit.edu	37	chr11	58892175	58892175	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagattgttaagatcaAcgaacttcatgaaaaaggaa	8	4	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:58892175A>G	uc001nnl.2	+	4	848	c.605A>G	c.(604-606)AAC>AGC	p.N202S	FAM111B_uc001nnm.2_Missense_Mutation_p.N172S|FAM111B_uc010rko.1_Missense_Mutation_p.N172S	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	202							catalytic activity			ovary(2)	2						GTTAAGATCAACGAACTTCAT	0.378													G	58892175	A	G	58892175	3	3	19	1	0	0	0	0	1	0	0	0	5400	43	2	3	611	3	FAM111B	11	58892175	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	684896	58892175	76114341	1867	16166											
DTX4	23220	broad.mit.edu	37	chr11	58972212	58972212	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgccattggcacctccagcAccacaggcgagtcagacacc	9	16	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:58972212A>G	uc001nns.2	+	9	1947	c.1690A>G	c.(1690-1692)ACC>GCC	p.T564A	DTX4_uc001nnr.2_Missense_Mutation_p.T458A	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	564					Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)				CACCTCCAGCACCACAGGCGA	0.532													G	58972212	A	G	58972212	3	3	19	1	0	0	0	0	1	0	0	0	4797	159	6	3	1724	3	DTX4	11	58972212	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	80037	58972212	76034304	1868	16167											
OSBP	5007	broad.mit.edu	37	chr11	59361099	59361099	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggggcataatggagaggtaTttgcctcgaaacttgctggt	14	6	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:59361099T>C	uc001noc.1	-	9	2136	c.1656A>G	c.(1654-1656)AAA>AAG	p.K552K	OSBP_uc009ymr.1_Intron	NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	552					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGGAGAGGTATTTGCCTCGAA	0.408													C	59361099	T	C	59361099	2	2	19	1	0	0	0	0	0	0	0	1	11273	1490	52	3		3	OSBP	11	59361099	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	388887	59361099	75645417	1869	16168											
PATL1	219988	broad.mit.edu	37	chr11	59425112	59425112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgaccgccttggtaatgctCgttcagaaaggtcccgatca	10	11	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:59425112C>T	uc001noe.3	-	5	655	c.512G>A	c.(511-513)CGA>CAA	p.R171Q	PATL1_uc009yms.1_Missense_Mutation_p.R171Q|PATL1_uc010rkw.1_5'UTR	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog	171	Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			ovary(1)	1						TGGTAATGCTCGTTCAGAAAG	0.512													T	59425112	C	T	59425112	3	4	19	1	0	0	0	0	1	0	0	0	11475	884	31	1	1860	1	PATL1	11	59425112	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	64013	59425112	75581404	1870	16169											
ZP1	22917	broad.mit.edu	37	chr11	60637322	60637322	+	Frame_Shift_Del	DEL	C	C	-													ccctcgccaccctggctcaaCcccactggggcaccttggaa							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:60637321_60637321AC>A	uc001nqd.3	+	2	650	c.630_630AC>A	c.(628-630)caafs	p.Q210fs	ZP1_uc001nqe.3_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	210					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCCTGGCTCAACCCCACTGGG	0.582													-	60637322	C	-	60637322	7	5	19	1	0	1	0	1	0	0	0	0	18212	507	18	0	641	0	ZP1	11	60637322	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	1212210	60637322	74369194	1871	16170											
CD6	923	broad.mit.edu	37	chr11	60776004	60776004	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaaccccctcccacccctAgagaaccgcgcgctgcgcct	7	22	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:60776004A>G	uc001nqq.2	+	4	693	c.470_splice	c.e4-2	p.E157_splice	CD6_uc009yni.2_Splice_Site_p.E157_splice|CD6_uc009ynj.2_Splice_Site_p.E157_splice|CD6_uc001nqp.2_Splice_Site_p.E157_splice|CD6_uc001nqr.2_Splice_Site_p.E157_splice|CD6_uc001nqs.2_Splice_Site|CD6_uc001nqt.2_Splice_Site_p.E157_splice	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor						cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						TCCCACCCCTAGAGAACCGCG	0.672													G	60776004	A	G	60776004	5	3	19	1	0	0	0	0	0	0	1	0	3028	434	15	3	482	3	CD6	11	60776004	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	138682	60776004	74230512	1872	16171											
CPSF7	79869	broad.mit.edu	37	chr11	61179396	61179396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagcagcgtctcaattgcGtcactgtaatcccctgataa	9	11	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:61179396G>A	uc001nrq.2	-	8	1232	c.1098C>T	c.(1096-1098)GAC>GAT	p.D366D	CPSF7_uc001nro.2_Silent_p.D357D|CPSF7_uc001nrp.2_Silent_p.D409D|CPSF7_uc001nrr.2_Silent_p.D357D	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN	pre-mRNA cleavage factor I, 59 kDa subunit	366					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)	1						TCTCAATTGCGTCACTGTAAT	0.502													A	61179396	G	A	61179396	2	1	19	1	0	0	0	0	0	0	0	1	3830	1136	40	1		1	CPSF7	11	61179396	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	403392	61179396	73827120	1873	16172											
AHNAK	79026	broad.mit.edu	37	chr11	62285270	62285270	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggccccttcacactgataTcaggagcagccccatggaaa	9	14	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:62285270T>C	uc001ntl.2	-	5	16919	c.16619A>G	c.(16618-16620)GAT>GGT	p.D5540G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	5540	Gly-rich.				nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CACACTGATATCAGGAGCAGC	0.488													C	62285270	T	C	62285270	3	2	19	1	0	0	0	0	1	0	0	0	414	1435	50	3	1173	3	AHNAK	11	62285270	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1105874	62285270	72721246	1874	16173											
AHNAK	79026	broad.mit.edu	37	chr11	62290281	62290281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcatggagatcttgggggCtttgatgttcatctcaggca	14	7	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:62290281C>T	uc001ntl.2	-	5	11908	c.11608G>A	c.(11608-11610)GCC>ACC	p.A3870T	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3870					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				ATCTTGGGGGCTTTGATGTTC	0.468													T	62290281	C	T	62290281	3	4	19	1	0	0	0	0	1	0	0	0	414	797	28	2	6184	2	AHNAK	11	62290281	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	5011	62290281	72716235	1875	16174											
INTS5	80789	broad.mit.edu	37	chr11	62416494	62416494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagctctccagagacagtgCccagcaaagctggtgacatg	11	12	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:62416494C>T	uc001nud.2	-	2	1111	c.1058G>A	c.(1057-1059)GGC>GAC	p.G353D	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	353					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						AGAGACAGTGCCCAGCAAAGC	0.622													T	62416494	C	T	62416494	3	4	19	1	0	0	0	0	1	0	0	0	7781	739	26	2	2005	2	INTS5	11	62416494	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	126213	62416494	72590022	1876	16175											
SLC22A10	387775	broad.mit.edu	37	chr11	63066991	63066991	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttattattgaaggttgtAagatccaccatgcaggagga	11	5	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:63066991A>G	uc009yor.2	+	6	1168	c.960A>G	c.(958-960)GTA>GTG	p.V320V	SLC22A10_uc010rmo.1_RNA|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Silent_p.V160V	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	320	Extracellular (Potential).					integral to membrane	transmembrane transporter activity			ovary(2)	2						TGAAGGTTGTAAGATCCACCA	0.428													G	63066991	A	G	63066991	2	3	19	1	0	0	0	0	0	0	0	1	14441	349	13	3		3	SLC22A10	11	63066991	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	650497	63066991	71939525	1877	16176											
ATL3	25923	broad.mit.edu	37	chr11	63426718	63426718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcttgctgctctccatgGcatcatctatgttcatgcag	9	12	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:63426718G>A	uc001nxk.1	-	2	329	c.53C>T	c.(52-54)GCC>GTC	p.A18V	ATL3_uc010rms.1_5'UTR|ATL3_uc001nxl.1_Missense_Mutation_p.A70V	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	atlastin 3	18	Cytoplasmic.				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			pancreas(1)	1						GCTCTCCATGGCATCATCTAT	0.388													A	63426718	G	A	63426718	3	1	19	1	0	0	0	0	1	0	0	0	1108	1203	42	2	1620	2	ATL3	11	63426718	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	359727	63426718	71579798	1878	16177											
DNAJC4	3338	broad.mit.edu	37	chr11	63999943	63999943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaacccaagcctgcacagCcgctttgtggagctgagcga	14	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:63999943C>T	uc001nys.2	+	4	684	c.222C>T	c.(220-222)AGC>AGT	p.S74S	uc001nyr.1_5'Flank|DNAJC4_uc001nyt.2_Silent_p.S74S|DNAJC4_uc001nyu.2_Silent_p.S74S|VEGFB_uc001nyw.2_5'Flank|VEGFB_uc001nyx.2_5'Flank	NM_005528	NP_005519	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	74	J.				protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding				0						GCCTGCACAGCCGCTTTGTGG	0.647													T	63999943	C	T	63999943	2	4	19	1	0	0	0	0	0	0	0	1	4649	738	26	2		2	DNAJC4	11	63999943	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	573225	63999943	71006573	1879	16178											
GPR137	56834	broad.mit.edu	37	chr11	64056707	64056707	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaatacccaggccccagtcCccctcaccctaggcccctgt	7	20	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:64056707C>A	uc001nzg.1	+	8	1432	c.1124C>A	c.(1123-1125)CCC>CAC	p.P375H	GPR137_uc010rni.1_Missense_Mutation_p.P433H|GPR137_uc001nzf.2_3'UTR|GPR137_uc001nzi.2_3'UTR|GPR137_uc010rnj.1_3'UTR|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.3_5'Flank|KCNK4_uc001nzn.1_5'Flank	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	375	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(1)	1						GGCCCCAGTCCCCCTCACCCT	0.667													A	64056707	C	A	64056707	3	1	19	1	0	0	0	0	1	0	0	0	6645	623	22	5	1438	5	GPR137	11	64056707	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	56764	64056707	70949809	1880	16179											
CCDC88B	283234	broad.mit.edu	37	chr11	64121543	64121543	+	Frame_Shift_Del	DEL	G	G	-													ggcgggaggggggcccccctGgggggctgcgcctgggggcc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:64121543delG	uc001nzy.2	+	24	4044	c.4000delG	c.(4000-4002)GGGfs	p.G1334fs	CCDC88B_uc009ypo.1_Frame_Shift_Del_p.G1331fs|CCDC88B_uc001oaa.2_Intron|CCDC88B_uc001oab.1_Frame_Shift_Del_p.G165fs|CCDC88B_uc001oac.2_Intron	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88	1334					microtubule cytoskeleton organization	cytoplasm	microtubule binding			ovary(3)|skin(1)	4						gggcccccctggggggctgcg	0.507													-	64121543	G	-	64121543	7	5	19	1	0	1	0	1	0	0	0	0	2864	1348	47	0	4094	0	CCDC88B	11	64121543	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	64836	64121543	70884973	1881	16180											
MAP4K2	5871	broad.mit.edu	37	chr11	64569203	64569204	+	Frame_Shift_Ins	INS	-	-	C													tgatgtctctgtggatcttcINSccctgagaatgcaggtggtg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:64569202_64569203T>TC	uc001obh.3	-	5	485_486	c.393_394A>GA	c.(391-396)gggaagfs	p.G131fs	MAP4K2_uc001obi.3_Frame_Shift_Ins_p.G131fs	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	131	Protein kinase.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	Golgi membrane|basolateral plasma membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CTGTGGATCTTCCCCTGAGAAT	0.629											OREG0004013	type=REGULATORY REGION|Gene=AF161342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C	64569204	-	C	64569203	7	5	19	1	0	1	1	0	0	0	0	0	9260	842	30	0	2177	0	MAP4K2	11	64569203	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	447660	64569203	70437313	1882	16181											
MEN1	4221	broad.mit.edu	37	chr11	64573765	64573765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcccgcacattgcggttgcGacagtggtagccagccaggt	13	12	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:64573765G>A	uc001obj.2	-	7	1076	c.1003C>T	c.(1003-1005)CGC>TGC	p.R335C	MEN1_uc001obk.2_Missense_Mutation_p.R335C|MEN1_uc001obl.2_Missense_Mutation_p.R295C|MEN1_uc001obm.2_Missense_Mutation_p.R330C|MEN1_uc001obn.2_Missense_Mutation_p.R335C|MEN1_uc001obo.2_Missense_Mutation_p.R335C|MEN1_uc001obp.2_Missense_Mutation_p.R330C|MEN1_uc001obq.2_Missense_Mutation_p.R335C|MEN1_uc001obr.2_Missense_Mutation_p.R335C	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	335	Interaction with FANCD2.				DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						TTGCGGTTGCGACAGTGGTAG	0.602			D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	64573765	G	A	64573765	3	1	19	1	0	0	0	0	1	0	0	0	9472	1058	37	1	860	1	MEN1	11	64573765	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	4562	64573765	70432751	1883	16182											
ATG2A	23130	broad.mit.edu	37	chr11	64665443	64665443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggctcgagtctcggggCgagctaggggaggggaggtc	22	8	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:64665443C>T	uc001obx.2	-	35	4977	c.4862G>A	c.(4861-4863)CGC>CAC	p.R1621H	ATG2A_uc001obw.2_Missense_Mutation_p.R386H	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1621							protein binding			ovary(1)|central_nervous_system(1)	2						AGTCTCGGGGCGAGCTAGGGG	0.687													T	64665443	C	T	64665443	3	4	19	1	0	0	0	0	1	0	0	0	1093	768	27	1	982	1	ATG2A	11	64665443	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	91678	64665443	70341073	1884	16183											
ATG2A	23130	broad.mit.edu	37	chr11	64666107	64666107	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggtgcaggtcgctcataCcatgttagagtgggcacgtc	14	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:64666107C>T	uc001obx.2	-	32	4786	c.4671_splice	c.e32+1	p.M1557_splice	ATG2A_uc001obw.2_Splice_Site_p.M322_splice	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A								protein binding			ovary(1)|central_nervous_system(1)	2						GTCGCTCATACCATGTTAGAG	0.587													T	64666107	C	T	64666107	5	4	19	1	0	0	0	0	0	0	1	0	1093	521	18	4	1184	4	ATG2A	11	64666107	Splice_Site	SNP	C	TCGA-BR-4361-01A-01D-1158-08	664	64666107	70340409	1885	16184											
C11orf85	283129	broad.mit.edu	37	chr11	64708103	64708103	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcaatccttgttgggTttttctttccctattctgtt	6	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:64708103T>G	uc001ocb.1	-	8	563	c.489A>C	c.(487-489)AAA>AAC	p.K163N	C11orf85_uc001occ.1_RNA|C11orf85_uc001ocd.1_Missense_Mutation_p.T107P	NM_001037225	NP_001032302	Q3KP22	CK085_HUMAN	hypothetical protein LOC283129	163											0						CCTTGTTGGGTTTTTCTTTCC	0.398													G	64708103	T	G	64708103	3	3	19	1	0	0	0	0	1	0	0	0	1668	1722	60	5	169	5	C11orf85	11	64708103	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	41996	64708103	70298413	1886	16185											
CDCA5	113130	broad.mit.edu	37	chr11	64851183	64851183	+	Frame_Shift_Del	DEL	G	G	-													gcagaggcttagtaggagatGgggcccttggccctggaaag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:64851182_64851182TG>T	uc001ocp.2	-	1	225	c.60_60CA>A	c.(58-60)ccafs	p.P20fs	ZFPL1_uc009yqa.3_5'Flank|ZFPL1_uc001ocq.1_5'Flank|ZFPL1_uc010rnx.2_5'Flank	NM_080668	NP_542399	Q96FF9	CDCA5_HUMAN	Homo sapiens cell division cycle associated 5 (CDCA5), mRNA.	20					G1/S transition of mitotic cell cycle|cell division|double-strand break repair|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TAGTAGGAGATGGGGCCCTTG	0.532													-	64851183	G	-	64851183	7	5	19	1	0	1	0	1	0	0	0	0	3089	1348	47	0	719	0	CDCA5	11	64851183	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	143080	64851183	70155333	1887	16186											
C11orf2	738	broad.mit.edu	37	chr11	64876853	64876853	+	Frame_Shift_Del	DEL	G	G	-													tgcgacagccctggggagaaGgggggtgccacaccacctgc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:64876852_64876852AG>A	uc001ocr.1	+	5	1584	c.1544_1544AG>A	c.(1543-1545)aagfs	p.K515fs	TM7SF2_uc001oct.3_5'Flank|TM7SF2_uc010rny.2_5'Flank|TM7SF2_uc001ocu.3_5'Flank|TM7SF2_uc001ocv.3_5'Flank|C11orf2_uc001ocs.1_Frame_Shift_Del_p.K391fs	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	515					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						CCTGGGGAGAAGGGGGGTGCC	0.622													-	64876853	G	-	64876853	7	5	19	1	0	1	0	1	0	0	0	0	1633	991	35	0	1567	0	C11orf2	11	64876853	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	25670	64876853	70129663	1888	16187											
LTBP3	4054	broad.mit.edu	37	chr11	65307100	65307100	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgatgtcgggcaatgggaccCtgggaggagcagaactggtc	17	9	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:65307100C>A	uc001oej.2	-	26	3817	c.3548_splice	c.e26-1	p.G1183_splice	LTBP3_uc001oef.2_Splice_Site_p.G186_splice|LTBP3_uc001oeg.2_Splice_Site_p.G139_splice|LTBP3_uc001oeh.2_Splice_Site_p.G613_splice|LTBP3_uc010roi.1_Splice_Site_p.G1019_splice|LTBP3_uc001oei.2_Splice_Site_p.G1136_splice|LTBP3_uc010roj.1_Splice_Site_p.G837_splice|LTBP3_uc010rok.1_Splice_Site_p.G1094_splice	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding							extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						CAATGGGACCCTGGGAGGAGC	0.692													A	65307100	C	A	65307100	5	1	19	1	0	0	0	0	0	0	1	0	9075	695	24	5	376	5	LTBP3	11	65307100	Splice_Site	SNP	C	TCGA-BR-4361-01A-01D-1158-08	430247	65307100	69699416	1889	16188											
EHBP1L1	254102	broad.mit.edu	37	chr11	65351053	65351053	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccagagaacaaatctggTacttttaaggcccaggaagc	9	10	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:65351053T>C	uc001oeo.3	+	9	3175	c.2910T>C	c.(2908-2910)GGT>GGC	p.G970G	EHBP1L1_uc001oep.1_Intron	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	970										central_nervous_system(1)	1						ACAAATCTGGTACTTTTAAGG	0.567													C	65351053	T	C	65351053	2	2	19	1	0	0	0	0	0	0	0	1	4976	1625	57	3		3	EHBP1L1	11	65351053	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	43953	65351053	69655463	1890	16189											
PCNXL3	399909	broad.mit.edu	37	chr11	65386239	65386239	+	Frame_Shift_Del	DEL	G	G	-													agggggaccccggaagcggaGggccccccatggggctgagg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:65386238_65386238AG>A	uc001oey.2	+	5	1405	c.1405_1405AG>A	c.(1405-1407)aggfs	p.R469fs		NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	469						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCGGAAGCGGAGGGCCCCCCA	0.662													-	65386239	G	-	65386239	7	5	19	1	0	1	0	1	0	0	0	0	11593	1000	35	0	1428	0	PCNXL3	11	65386239	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	35186	65386239	69620277	1891	16190											
DKFZp761E198	91056	broad.mit.edu	37	chr11	65546619	65546619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccagggctgcccgctgccGcaagccagccagcagctctt	11	17	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:65546619G>A	uc001ofo.3	-	1	1204	c.1174C>T	c.(1174-1176)CGG>TGG	p.R392W		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	hypothetical protein LOC91056	392							protein binding				0				READ - Rectum adenocarcinoma(159;0.167)		GCCCGCTGCCGCAAGCCAGCC	0.652													A	65546619	G	A	65546619	3	1	19	1	0	0	0	0	1	0	0	0	4543	1086	38	1	1295	1	DKFZp761E198	11	65546619	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	160380	65546619	69459897	1892	16191											
YIF1A	10897	broad.mit.edu	37	chr11	66053174	66053174	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggggcttggcactgacctTttctgaatgcccagtgccat	12	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:66053174T>C	uc001ohk.3	-	5	665	c.483A>G	c.(481-483)AAA>AAG	p.K161K	YIF1A_uc001ohj.2_Silent_p.K18K	NM_020470	NP_065203	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog	161	Extracellular (Potential).				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane					0						GCACTGACCTTTTCTGAATGC	0.582													C	66053174	T	C	66053174	2	2	19	1	0	0	0	0	0	0	0	1	17472	1838	64	3		3	YIF1A	11	66053174	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	506555	66053174	68953342	1893	16192											
YIF1A	10897	broad.mit.edu	37	chr11	66055105	66055105	+	Frame_Shift_Del	DEL	G	G	-													aggggcgttgaggtcttgccGggggggcagaggagcatcac							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:66055104_66055104CG>C	uc001ohk.4	-	3	574	c.392_392CG>G	c.(391-393)cggfs	p.R131fs	YIF1A_uc009yrc.3_Frame_Shift_Del_p.R96fs	NM_020470	NP_065203	O95070	YIF1A_HUMAN	Homo sapiens Yip1 interacting factor homolog A (S. cerevisiae) (YIF1A), mRNA.	131					protein transport|vesicle-mediated transport	ER-Golgi intermediate compartment|Golgi membrane|centrosome|endoplasmic reticulum membrane|integral to membrane		p.R131L(2)|p.P130P(1)|p.P130R(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						GAGGTCTTGCCGGGGGGGCAG	0.622													-	66055105	G	-	66055105	7	5	19	1	0	1	0	1	0	0	0	0	17472	1115	39	0	510	0	YIF1A	11	66055105	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	1931	66055105	68951411	1894	16193											
CCDC87	55231	broad.mit.edu	37	chr11	66358846	66358846	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgctctctgggagtaaagTccaaccagctcagggttgat	11	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:66358846T>C	uc001oiq.3	-	1	1709	c.1641A>G	c.(1639-1641)GGA>GGG	p.G547G	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	547										ovary(1)|skin(1)	2						GGGAGTAAAGTCCAACCAGCT	0.478													C	66358846	T	C	66358846	2	2	19	1	0	0	0	0	0	0	0	1	2862	1654	58	3		3	CCDC87	11	66358846	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	303741	66358846	68647670	1895	16194											
RBM14	10432	broad.mit.edu	37	chr11	66392810	66392810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttcaggctcctatggggCtcagtcggctgctgcggcca	13	14	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:66392810C>T	uc001oit.2	+	2	1602	c.1463C>T	c.(1462-1464)GCT>GTT	p.A488V	RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	488	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						TCCTATGGGGCTCAGTCGGCT	0.632													T	66392810	C	T	66392810	3	4	19	1	0	0	0	0	1	0	0	0	13115	797	28	2	1469	2	RBM14	11	66392810	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	33964	66392810	68613706	1896	16195											
C11orf80	79703	broad.mit.edu	37	chr11	66571567	66571567	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagacgtggctggcatggActtgttgggagaactgatac	15	6	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:66571567A>G	uc001ojf.2	+	9	951	c.944A>G	c.(943-945)GAC>GGC	p.D315G	C11orf80_uc001ojg.2_Missense_Mutation_p.D81G|C11orf80_uc001ojh.2_Missense_Mutation_p.D82G|C11orf80_uc001oji.2_Missense_Mutation_p.D82G|C11orf80_uc010rpk.1_Missense_Mutation_p.D150G	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	hypothetical protein LOC79703	160											0						GCTGGCATGGACTTGTTGGGA	0.473													G	66571567	A	G	66571567	3	3	19	1	0	0	0	0	1	0	0	0	1664	275	10	3	978	3	C11orf80	11	66571567	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	178757	66571567	68434949	1897	16196											
PC	5091	broad.mit.edu	37	chr11	66618339	66618339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtcggggaagcggtccCggagggagctgaccagcatg	20	9	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:66618339C>T	uc001ojn.1	-	16	2328	c.2279G>A	c.(2278-2280)CGG>CAG	p.R760Q	PC_uc001ojo.1_Missense_Mutation_p.R760Q|PC_uc001ojp.1_Missense_Mutation_p.R760Q|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	760	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GAAGCGGTCCCGGAGGGAGCT	0.662													T	66618339	C	T	66618339	3	4	19	1	0	0	0	0	1	0	0	0	11497	652	23	1	1281	1	PC	11	66618339	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	46772	66618339	68388177	1898	16197											
PC	5091	broad.mit.edu	37	chr11	66639309	66639309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgcggatgcccagctccGtgcaggcccggaacacacgg	15	15	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:66639309G>A	uc001ojn.1	-	3	219	c.170C>T	c.(169-171)ACG>ATG	p.T57M	PC_uc001ojo.1_Missense_Mutation_p.T57M|PC_uc001ojp.1_Missense_Mutation_p.T57M	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	57	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GCCCAGCTCCGTGCAGGCCCG	0.577													A	66639309	G	A	66639309	3	1	19	1	0	0	0	0	1	0	0	0	11497	1145	40	1	3442	1	PC	11	66639309	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	20970	66639309	68367207	1899	16198											
KDM2A	22992	broad.mit.edu	37	chr11	67017751	67017751	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccccagcgaccaccacagTgccagccgcgatgagcgctt	12	17	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:67017751T>C	uc001ojw.2	+	17	3114	c.2250T>C	c.(2248-2250)AGT>AGC	p.S750S	KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Silent_p.S444S|KDM2A_uc010rpn.1_Silent_p.S311S|KDM2A_uc001ojz.1_Silent_p.S208S|KDM2A_uc001oka.2_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	750					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						ACCACCACAGTGCCAGCCGCG	0.627													C	67017751	T	C	67017751	2	2	19	1	0	0	0	0	0	0	0	1	8124	1693	59	3		3	KDM2A	11	67017751	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	378442	67017751	67988765	1900	16199											
RAD9A	5883	broad.mit.edu	37	chr11	67161249	67161249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtgcccccacatgctccGcgccccagcacggtgagcac	10	20	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:67161249G>A	uc001okr.2	+	5	530	c.437G>A	c.(436-438)CGC>CAC	p.R146H	RAD9A_uc001oks.2_5'Flank	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	RAD9 homolog	146					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding				0			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CACATGCTCCGCGCCCCAGCA	0.627								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					A	67161249	G	A	67161249	3	1	19	1	0	0	0	0	1	0	0	0	12995	1087	38	1	455	1	RAD9A	11	67161249	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	143498	67161249	67845267	1901	16200											
PPP1CA	5499	broad.mit.edu	37	chr11	67168168	67168168	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaccactcacactcatcgTagaaaccatagatgcggttg	8	12	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:67168168T>C	uc001okw.1	-	3	533	c.410A>G	c.(409-411)TAC>TGC	p.Y137C	PPP1CA_uc009yro.1_5'UTR|PPP1CA_uc001okt.1_Missense_Mutation_p.Y142C|PPP1CA_uc001oku.1_Missense_Mutation_p.Y148C|PPP1CA_uc001okv.1_Missense_Mutation_p.Y93C|PPP1CA_uc001okx.1_Missense_Mutation_p.Y225C|PPP1CA_uc001oky.2_Missense_Mutation_p.Y137C	NM_002708	NP_002699	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha	137					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			ACACTCATCGTAGAAACCATA	0.547													C	67168168	T	C	67168168	3	2	19	1	0	0	0	0	1	0	0	0	12349	1638	57	3	602	3	PPP1CA	11	67168168	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	6919	67168168	67838348	1902	16201											
PTPRCAP	5790	broad.mit.edu	37	chr11	67203517	67203517	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcctcctgtcgctcaaggTcattgtctgtggaccccagc	9	15	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:67203517T>C	uc001oli.1	-	2	371	c.308A>G	c.(307-309)GAC>GGC	p.D103G		NM_005608	NP_005599	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type,	103					defense response	integral to membrane|plasma membrane					0			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCGCTCAAGGTCATTGTCTGT	0.677													C	67203517	T	C	67203517	3	2	19	1	0	0	0	0	1	0	0	0	12798	1667	58	3	316	3	PTPRCAP	11	67203517	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	35349	67203517	67802999	1903	16202											
CABP2	51475	broad.mit.edu	37	chr11	67287283	67287283	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcgaagtcgaccagaccGtccccattgaggtccacgtc	9	16	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:67287283G>A	uc001omc.1	-	6	720	c.618C>T	c.(616-618)GAC>GAT	p.D206D	CABP2_uc001omd.1_Silent_p.D149D|CABP2_uc001ome.1_Silent_p.D212D	NM_016366	NP_057450	Q9NPB3	CABP2_HUMAN	calcium binding protein 2 isoform 1	206	EF-hand 4.|3 (Potential).				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1						CGACCAGACCGTCCCCATTGA	0.637													A	67287283	G	A	67287283	2	1	19	1	0	0	0	0	0	0	0	1	2532	1136	40	1		1	CABP2	11	67287283	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	83766	67287283	67719233	1904	16203											
IGHMBP2	3508	broad.mit.edu	37	chr11	68700870	68700870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtaccgcatgcaccagGctatcatgcgctgggcctca	11	14	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:68700870G>A	uc001ook.1	+	9	1441	c.1339G>A	c.(1339-1341)GCT>ACT	p.A447T	IGHMBP2_uc001ool.1_Missense_Mutation_p.A71T|IGHMBP2_uc001oom.1_Missense_Mutation_p.A25T	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	447					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CATGCACCAGGCTATCATGCG	0.637													A	68700870	G	A	68700870	3	1	19	1	0	0	0	0	1	0	0	0	7591	1203	42	2	1373	2	IGHMBP2	11	68700870	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1413587	68700870	66305646	1905	16204											
CTTN	2017	broad.mit.edu	37	chr11	70265939	70265939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgagtatcaaggcaaaaCggagaagcacgagtcccaga	11	9	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:70265939C>T	uc001opv.3	+	9	862	c.656C>T	c.(655-657)ACG>ATG	p.T219M	CTTN_uc001opu.2_Missense_Mutation_p.T219M|CTTN_uc001opw.3_Missense_Mutation_p.T219M|CTTN_uc010rqm.1_5'Flank|CTTN_uc001opx.2_5'Flank	NM_005231	NP_005222	Q14247	SRC8_HUMAN	cortactin isoform a	219	Cortactin 4.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CAAGGCAAAACGGAGAAGCAC	0.468													T	70265939	C	T	70265939	3	4	19	1	0	0	0	0	1	0	0	0	4044	536	19	1	682	1	CTTN	11	70265939	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1565069	70265939	64740577	1906	16205											
NUMA1	4926	broad.mit.edu	37	chr11	71724239	71724239	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgccttcttcagcatgctcAgctgctctgcatagctggcc	10	15	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:71724239A>G	uc001orl.1	-	15	4482	c.4310T>C	c.(4309-4311)CTG>CCG	p.L1437P	NUMA1_uc009ysw.1_Missense_Mutation_p.L1000P|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.L1437P|NUMA1_uc001orn.2_Missense_Mutation_p.L1000P|NUMA1_uc009ysx.1_Missense_Mutation_p.L1437P|NUMA1_uc001oro.1_Missense_Mutation_p.L1437P	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1437	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						CAGCATGCTCAGCTGCTCTGC	0.637			T	RARA	APL								G	71724239	A	G	71724239	3	3	19	1	0	0	0	0	1	0	0	0	10750	188	7	3	2089	3	NUMA1	11	71724239	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1458300	71724239	63282277	1907	16206											
MRPL48	51642	broad.mit.edu	37	chr11	73555944	73555944	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatattcatctgactgcataTgatatgaccctggcagagag	9	8	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:73555944T>C	uc001ouh.3	+	5	394	c.294T>C	c.(292-294)TAT>TAC	p.Y98Y	MRPL48_uc009ytt.2_5'UTR|MRPL48_uc010rri.1_Silent_p.Y80Y|MRPL48_uc009ytu.2_5'UTR	NM_016055	NP_057139	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48 precursor	98					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0						TGACTGCATATGATATGACCC	0.418													C	73555944	T	C	73555944	2	2	19	1	0	0	0	0	0	0	0	1	9812	1471	51	3		3	MRPL48	11	73555944	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1831705	73555944	61450572	1908	16207											
SLCO2B1	11309	broad.mit.edu	37	chr11	74876980	74876980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcggagccataccgctacgAcaacaccagccctggtaaga	9	15	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:74876980A>G	uc001owb.2	+	4	821	c.434A>G	c.(433-435)GAC>GGC	p.D145G	SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Intron|SLCO2B1_uc010rrs.1_Missense_Mutation_p.D29G|SLCO2B1_uc001owc.2_Missense_Mutation_p.D29G|SLCO2B1_uc001owd.2_Missense_Mutation_p.D123G	NM_007256	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family,	145	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|breast(1)	2					Ergoloid mesylate(DB01049)	TACCGCTACGACAACACCAGC	0.622													G	74876980	A	G	74876980	3	3	19	1	0	0	0	0	1	0	0	0	14727	275	10	3	448	3	SLCO2B1	11	74876980	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1321036	74876980	60129536	1909	16208											
SERPINH1	871	broad.mit.edu	37	chr11	75280189	75280189	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccatctccttgcccaagggTgtggtggaggtgacccatga	14	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:75280189T>C	uc001owr.2	+	4	1156	c.927T>C	c.(925-927)GGT>GGC	p.G309G	SERPINH1_uc009yuf.2_Silent_p.G309G|SERPINH1_uc009yug.2_Silent_p.G309G|SERPINH1_uc001ows.2_Silent_p.G309G|SERPINH1_uc001owt.2_Silent_p.G92G	NM_001235	NP_001226	P50454	SERPH_HUMAN	serine (or cysteine) proteinase inhibitor, clade	309					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			ovary(2)	2	Ovarian(111;0.11)					TGCCCAAGGGTGTGGTGGAGG	0.607													C	75280189	T	C	75280189	2	2	19	1	0	0	0	0	0	0	0	1	14117	1683	59	3		3	SERPINH1	11	75280189	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	403209	75280189	59726327	1910	16209											
SERPINH1	871	broad.mit.edu	37	chr11	75283092	75283092	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctattcattgggcgcctggtCcggcctaagggtgacaagat	13	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:75283092C>T	uc001owr.2	+	5	1450	c.1221C>T	c.(1219-1221)GTC>GTT	p.V407V	SERPINH1_uc009yug.2_Silent_p.V407V|SERPINH1_uc001ows.2_Silent_p.V407V|SERPINH1_uc001owt.2_Silent_p.V190V	NM_001235	NP_001226	P50454	SERPH_HUMAN	serine (or cysteine) proteinase inhibitor, clade	407					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			ovary(2)	2	Ovarian(111;0.11)					GGCGCCTGGTCCGGCCTAAGG	0.597													T	75283092	C	T	75283092	2	4	19	1	0	0	0	0	0	0	0	1	14117	842	30	4		4	SERPINH1	11	75283092	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2903	75283092	59723424	1911	16210											
MYO7A	4647	broad.mit.edu	37	chr11	76867058	76867058	+	Frame_Shift_Del	DEL	C	C	-													acaagaagattggggagatgCccccccacatctttgccatt					rs111033187		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:76867057_76867057GC>G	uc001oyb.2	+	4	662	c.390_390GC>G	c.(388-390)atgfs	p.M130fs	MYO7A_uc010rsl.2_Frame_Shift_Del_p.M130fs|MYO7A_uc010rsm.1_Frame_Shift_Del_p.M119fs|MYO7A_uc001oyc.2_Frame_Shift_Del_p.M130fs	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	130	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTGGGGAGATGCCCCCCCACA	0.562													-	76867058	C	-	76867058	7	5	19	1	0	1	0	1	0	0	0	0	10082	739	26	0	405	0	MYO7A	11	76867058	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	1583966	76867058	58139458	1912	16211											
C11orf67	28971	broad.mit.edu	37	chr11	77553633	77553633	+	Frame_Shift_Del	DEL	G	G	-													aggactgcaaagtatggccaGggggtagtcggacttgggat							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:77553632_77553632AG>A	uc001oyq.3	+	1	188	c.90_90AG>A	c.(88-90)ccafs	p.P30fs	C11orf67_uc001oyp.3_Frame_Shift_Del_p.P30fs|C11orf67_uc001oyr.1_Frame_Shift_Del_p.P30fs	NM_024684	NP_078960	Q9H7C9	CK067_HUMAN	Homo sapiens chromosome 11 open reading frame 67 (C11orf67), mRNA.	30										stomach(2)	2	all_cancers(14;5.69e-19)|all_epithelial(13;2.15e-21)|Breast(9;1.16e-15)|Ovarian(111;0.152)		Epithelial(5;1.37e-49)|all cancers(3;5.58e-46)|BRCA - Breast invasive adenocarcinoma(5;7.26e-31)			AAGTATGGCCAGGGGGTAGTC	0.428													-	77553633	G	-	77553633	7	5	19	1	0	1	0	1	0	0	0	0	1657	1000	35	0	93	0	C11orf67	11	77553633	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	686575	77553633	57452883	1913	16212											
THRSP	7069	broad.mit.edu	37	chr11	77774985	77774985	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaccgtcatggaccggTatgcagccgaggtgcacaac	13	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:77774985T>C	uc001oyx.2	+	1	79	c.58T>C	c.(58-60)TAT>CAT	p.Y20H		NM_003251	NP_003242	Q92748	THRSP_HUMAN	thyroid hormone-responsive protein	20					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(1)	1	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			CATGGACCGGTATGCAGCCGA	0.627													C	77774985	T	C	77774985	3	2	19	1	0	0	0	0	1	0	0	0	15873	1638	57	3	60	3	THRSP	11	77774985	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	221352	77774985	57231531	1914	16213											
ODZ4	26011	broad.mit.edu	37	chr11	78413022	78413023	+	Frame_Shift_Ins	INS	-	-	CA													acgtagagctccccatcagcINSacacacagccaaggaagatg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:78413021_78413022G>GCA	uc001ozl.4	-	27	5099_5100	c.4636_4637C>TGC	c.(4636-4638)gctfs	p.A1546fs		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1546					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CTCCCCATCAGCACACACAGCC	0.47													CA	78413023	-	CA	78413022	7	5	19	1	0	1	1	0	0	0	0	0	10837	710	25	0	3701	0	ODZ4	11	78413022	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	638037	78413022	56593494	1915	16214											
ODZ4	26011	broad.mit.edu	37	chr11	78467937	78467937	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatagaaggagtgtaggTtctgctgtgacacagggacc	15	7	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:78467937T>C	uc001ozl.3	-	19	3132	c.2669A>G	c.(2668-2670)AAC>AGC	p.N890S		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	890	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GGAGTGTAGGTTCTGCTGTGA	0.592													C	78467937	T	C	78467937	3	2	19	1	0	0	0	0	1	0	0	0	10837	1725	60	3	5704	3	ODZ4	11	78467937	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	54915	78467937	56538579	1916	16215											
PRCP	5547	broad.mit.edu	37	chr11	82550389	82550389	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcccgaataattgtaatAtacattcagagcttggaaaa	8	7	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:82550389A>G	uc001ozs.2	-	7	1113	c.1000T>C	c.(1000-1002)TAT>CAT	p.Y334H	PRCP_uc001ozr.2_Missense_Mutation_p.Y355H	NM_005040	NP_005031	P42785	PCP_HUMAN	prolylcarboxypeptidase isoform 1 preproprotein	334	SKS domain.				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			skin(1)	1						TAATTGTAATATACATTCAGA	0.378													G	82550389	A	G	82550389	3	3	19	1	0	0	0	0	1	0	0	0	12449	449	16	3	502	3	PRCP	11	82550389	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	4082452	82550389	52456127	1917	16216											
TMEM126B	55863	broad.mit.edu	37	chr11	85345229	85345229	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcttcaaggttaaacaTgatgctttgaagacatatgc	9	8	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:85345229T>C	uc001pao.2	+	4	465	c.213T>C	c.(211-213)CAT>CAC	p.H71H	TMEM126B_uc001pan.1_Silent_p.H71H|TMEM126B_uc001pap.2_Silent_p.H71H|TMEM126B_uc001paq.1_Silent_p.H71H	NM_018480	NP_060950	Q8IUX1	T126B_HUMAN	transmembrane protein 126B	101						integral to membrane					0		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGGTTAAACATGATGCTTTGA	0.368													C	85345229	T	C	85345229	2	2	19	1	0	0	0	0	0	0	0	1	16036	1461	51	3		3	TMEM126B	11	85345229	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2794840	85345229	49661287	1918	16217											
ME3	10873	broad.mit.edu	37	chr11	86157515	86157515	+	Frame_Shift_Del	DEL	A	A	-													ttaaaaggacttccactggcAaaaatccctcggccctggag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:86157515delA	uc001pbz.2	-	12	1649	c.1395delT	c.(1393-1395)TTTfs	p.F465fs	ME3_uc001pca.2_Frame_Shift_Del_p.F465fs|ME3_uc009yvk.2_Frame_Shift_Del_p.F465fs	NM_001014811	NP_001014811	Q16798	MAON_HUMAN	mitochondrial malic enzyme 3 precursor	465					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			ovary(1)	1		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	TTCCACTGGCAAAAATCCCTC	0.488													-	86157515	A	-	86157515	7	5	19	1	0	1	0	1	0	0	0	0	9419	127	5	0	431	0	ME3	11	86157515	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	812286	86157515	48849001	1919	16218											
CTSC	1075	broad.mit.edu	37	chr11	88027562	88027562	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtaataacgaaagcagtctTccttcattttgcatggagaa	8	7	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:88027562T>A	uc001pck.3	-	7	1105	c.1004A>T	c.(1003-1005)GAA>GTA	p.E335V	CTSC_uc001pcl.3_Missense_Mutation_p.E187V	NM_001814	NP_001805	P53634	CATC_HUMAN	cathepsin C isoform a preproprotein	335					immune response	lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAGCAGTCTTCCTTCATTTT	0.473													A	88027562	T	A	88027562	3	1	19	1	0	0	0	0	1	0	0	0	4031	1783	62	5	391	5	CTSC	11	88027562	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1870047	88027562	46978954	1920	16219											
FAT3	120114	broad.mit.edu	37	chr11	92087727	92087727	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaatcgtcatggagactgCtgaccatcaatgtggaggat	12	7	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:92087727C>A	uc001pdj.3	+	1	2466	c.2449C>A	c.(2449-2451)CTG>ATG	p.L817M		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	817	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGGAGACTGCTGACCATCAA	0.398										TCGA Ovarian(4;0.039)			A	92087727	C	A	92087727	3	1	19	1	0	0	0	0	1	0	0	0	5691	796	28	5	2451	5	FAT3	11	92087727	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	4060165	92087727	42918789	1921	16220											
FAT3	120114	broad.mit.edu	37	chr11	92533129	92533129	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctattgatgcagactcagAaaacaataaaatggtacatt	6	7	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:92533129A>G	uc001pdj.3	+	9	6967	c.6950A>G	c.(6949-6951)GAA>GGA	p.E2317G		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2317	Cadherin 21.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCAGACTCAGAAAACAATAAA	0.383										TCGA Ovarian(4;0.039)			G	92533129	A	G	92533129	3	3	19	1	0	0	0	0	1	0	0	0	5691	246	9	3	6984	3	FAT3	11	92533129	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	445402	92533129	42473387	1922	16221											
HEPHL1	341208	broad.mit.edu	37	chr11	93837857	93837857	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatattaagaagtatctcaAcaaagatccacgagatttta	5	7	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:93837857A>G	uc001pep.2	+	16	3003	c.2846A>G	c.(2845-2847)AAC>AGC	p.N949S	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	949	Extracellular (Potential).|Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AAGTATCTCAACAAAGATCCA	0.348													G	93837857	A	G	93837857	3	3	19	1	0	0	0	0	1	0	0	0	7055	43	2	3	2908	3	HEPHL1	11	93837857	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1304728	93837857	41168659	1923	16222											
PANX1	24145	broad.mit.edu	37	chr11	93911695	93911695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaggctgcaaagagtgcgcGtgaccttgacatgagagatg	14	7	0	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:93911695G>A	uc001per.2	+	3	867	c.482G>A	c.(481-483)CGT>CAT	p.R161H	PANX1_uc001peq.2_Missense_Mutation_p.R161H	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	pannexin 1	161	Cytoplasmic (Potential).				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAGAGTGCGCGTGACCTTGAC	0.483													A	93911695	G	A	93911695	3	1	19	1	0	0	0	0	1	0	0	0	11420	1145	40	1	492	1	PANX1	11	93911695	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	73838	93911695	41094821	1924	16223											
FUT4	2526	broad.mit.edu	37	chr11	94278118	94278118	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgttggactacgaggaggcAgcggcggcggcagaagccct	18	10	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:94278118A>G	uc001pez.2	+	1	1102	c.819A>G	c.(817-819)GCA>GCG	p.A273A	PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.1_5'Flank	NM_002033	NP_002024	P22083	FUT4_HUMAN	fucosyltransferase 4	273	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			skin(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACGAGGAGGCAGCGGCGGCGG	0.731													G	94278118	A	G	94278118	2	3	19	1	0	0	0	0	0	0	0	1	6106	175	7	3		3	FUT4	11	94278118	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	366423	94278118	40728398	1925	16224											
ENDOD1	23052	broad.mit.edu	37	chr11	94862256	94862256	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcttcattgctaccccatTcatcaagctttttcaattaa	5	11	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:94862256T>C	uc001pfh.2	+	2	1091	c.1016T>C	c.(1015-1017)TTC>TCC	p.F339S		NM_015036	NP_055851	O94919	ENDD1_HUMAN	endonuclease domain containing 1 precursor	339						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding				0		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				GCTACCCCATTCATCAAGCTT	0.428													C	94862256	T	C	94862256	3	2	19	1	0	0	0	0	1	0	0	0	5114	1783	62	3	1022	3	ENDOD1	11	94862256	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	584138	94862256	40144260	1926	16225											
CEP57	9702	broad.mit.edu	37	chr11	95561052	95561052	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgatcgagtcatcaacagtAttcctttggcaaagcaagta	8	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:95561052A>G	uc001pfp.1	+	9	1209	c.988A>G	c.(988-990)ATT>GTT	p.I330V	CEP57_uc010ruh.1_Missense_Mutation_p.I321V|CEP57_uc010rui.1_Missense_Mutation_p.I304V|CEP57_uc009ywn.1_Missense_Mutation_p.I178V|CEP57_uc001pfq.1_Missense_Mutation_p.I304V|CEP57_uc001pfr.1_Missense_Mutation_p.I178V	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN	translokin	330	Mediates interaction with microtubules (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CATCAACAGTATTCCTTTGGC	0.443									Mosaic_Variegated_Aneuploidy_Syndrome				G	95561052	A	G	95561052	3	3	19	1	0	0	0	0	1	0	0	0	3256	449	16	3	1022	3	CEP57	11	95561052	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	698796	95561052	39445464	1927	16226											
KIAA1377	57562	broad.mit.edu	37	chr11	101834511	101834511	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaagaagtcctgtttgtgaAgaaagttatccgtctgtgac	10	7	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:101834511A>T	uc001pgm.2	+	6	3015	c.2745A>T	c.(2743-2745)GAA>GAT	p.E915D	KIAA1377_uc001pgn.2_Missense_Mutation_p.E871D|KIAA1377_uc010run.1_Missense_Mutation_p.E716D|KIAA1377_uc009yxa.1_Missense_Mutation_p.E716D	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	915							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CTGTTTGTGAAGAAAGTTATC	0.418													T	101834511	A	T	101834511	3	4	19	1	0	0	0	0	1	0	0	0	8227	69	3	5	2767	5	KIAA1377	11	101834511	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	6273459	101834511	33172005	1928	16227											
PDGFD	80310	broad.mit.edu	37	chr11	103866871	103866871	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatgtgattttaatttggttCgttcttgattttatccttgg	8	4	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:103866871C>T	uc001phq.2	-	3	804	c.432G>A	c.(430-432)ACG>ACA	p.T144T	PDGFD_uc001php.2_Silent_p.T138T	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	144	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TAATTTGGTTCGTTCTTGATT	0.368													T	103866871	C	T	103866871	2	4	19	1	0	0	0	0	0	0	0	1	11660	871	31	1		1	PDGFD	11	103866871	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2032360	103866871	31139645	1929	16228											
DDI1	414301	broad.mit.edu	37	chr11	103907980	103907980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaggtctgggcagccccGccctgatccgcagcatgctg	13	15	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:103907980G>A	uc001phr.2	+	1	673	c.430G>A	c.(430-432)GCC>ACC	p.A144T	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	144					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GGGCAGCCCCGCCCTGATCCG	0.672													A	103907980	G	A	103907980	3	1	19	1	0	0	0	0	1	0	0	0	4328	1087	38	1	432	1	DDI1	11	103907980	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	41109	103907980	31098536	1930	16229											
CASP4	837	broad.mit.edu	37	chr11	104820474	104820474	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacttgtgctctggtctggTagcaaatgccctcagcgctg	13	11	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:104820474T>C	uc001pid.1	-	5	650	c.577A>G	c.(577-579)ACC>GCC	p.T193A	CASP4_uc001pib.1_Missense_Mutation_p.T137A|CASP4_uc009yxg.1_Missense_Mutation_p.T102A|CASP4_uc010rux.1_Missense_Mutation_p.T193A	NM_001225	NP_001216	P49662	CASP4_HUMAN	caspase 4 isoform alpha precursor	193					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			lung(2)|ovary(1)|skin(1)	4		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TCTGGTCTGGTAGCAAATGCC	0.463													C	104820474	T	C	104820474	3	2	19	1	0	0	0	0	1	0	0	0	2673	1638	57	3	572	3	CASP4	11	104820474	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	912494	104820474	30186042	1931	16230											
ALKBH8	91801	broad.mit.edu	37	chr11	107403026	107403026	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcatatttcaatacatacCcatgggtccaaaggtatcta	6	9	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:107403026C>A	uc010rvr.1	-	8	953	c.878G>T	c.(877-879)GGA>GTA	p.G293V	ALKBH8_uc001pjk.2_Missense_Mutation_p.G41V|ALKBH8_uc010rvq.1_Missense_Mutation_p.G156V|ALKBH8_uc009yxp.2_Missense_Mutation_p.G293V|ALKBH8_uc001pjl.2_RNA	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8	293	Fe2OG dioxygenase.				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity				0		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		CAATACATACCCATGGGTCCA	0.463													A	107403026	C	A	107403026	3	1	19	1	0	0	0	0	1	0	0	0	533	637	22	5	1136	5	ALKBH8	11	107403026	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2582552	107403026	27603490	1932	16231											
ALKBH8	91801	broad.mit.edu	37	chr11	107403094	107403094	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacgaggcaacataactggCactgcaatgccatctgggtg	12	11	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:107403094C>T	uc010rvr.1	-	8	885	c.810G>A	c.(808-810)GTG>GTA	p.V270V	ALKBH8_uc001pjk.2_Silent_p.V18V|ALKBH8_uc010rvq.1_Silent_p.V133V|ALKBH8_uc009yxp.2_Silent_p.V270V|ALKBH8_uc001pjl.2_RNA	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8	270	Fe2OG dioxygenase.				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity				0		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		ACATAACTGGCACTGCAATGC	0.388													T	107403094	C	T	107403094	2	4	19	1	0	0	0	0	0	0	0	1	533	697	25	2		2	ALKBH8	11	107403094	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	68	107403094	27603422	1933	16232											
CUL5	8065	broad.mit.edu	37	chr11	107965658	107965658	+	Frame_Shift_Del	DEL	A	A	-													cggaagtagaagaattctacAaaaaaaatcatagtggtaga							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:107965657_107965657CA>C	uc001pjv.3	+	14	2353	c.1686_1686CA>C	c.(1684-1686)tacfs	p.Y562fs	CUL5_uc001pju.3_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	562					G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AAGAATTCTACAAAAAAAATC	0.368													-	107965658	A	-	107965658	7	5	19	1	0	1	0	1	0	0	0	0	4059	131	5	0	1745	0	CUL5	11	107965658	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	562564	107965658	27040858	1934	16233											
CUL5	8065	broad.mit.edu	37	chr11	107968446	107968446	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaaagactttacagaaggTaccctcttctcagtgaacca	6	13	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:107968446T>C	uc001pjv.2	+	17	2656	c.1989T>C	c.(1987-1989)GGT>GGC	p.G663G	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	663					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TTACAGAAGGTACCCTCTTCT	0.363													C	107968446	T	C	107968446	2	2	19	1	0	0	0	0	0	0	0	1	4059	1625	57	3		3	CUL5	11	107968446	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2788	107968446	27038070	1935	16234											
NPAT	4863	broad.mit.edu	37	chr11	108044308	108044308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgattggtgtataattcaGcacaatgtggattacattca	8	6	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:108044308G>A	uc001pjz.3	-	13	1505	c.1403C>T	c.(1402-1404)GCT>GTT	p.A468V	NPAT_uc001pka.2_Missense_Mutation_p.A263V	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	468					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GTATAATTCAGCACAATGTGG	0.378													A	108044308	G	A	108044308	3	1	19	1	0	0	0	0	1	0	0	0	10566	971	34	2	2904	2	NPAT	11	108044308	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	75862	108044308	26962208	1936	16235											
ATM	472	broad.mit.edu	37	chr11	108098363	108098363	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaaccatgagtctagtActtaatgatctgcttatctg	8	7	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:108098363A>G	uc001pkb.1	+	2	397	c.12A>G	c.(10-12)GTA>GTG	p.V4V	ATM_uc009yxr.1_Silent_p.V4V|ATM_uc001pkc.1_Silent_p.V4V	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	4					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGAGTCTAGTACTTAATGATC	0.269			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			G	108098363	A	G	108098363	2	3	19	1	0	0	0	0	0	0	0	1	1109	378	14	3		3	ATM	11	108098363	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	54055	108098363	26908153	1937	16236											
ATM	472	broad.mit.edu	37	chr11	108168081	108168081	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttatccaagatggcaatAaaccacactggtgaaaaaga	8	8	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:108168081A>G	uc001pkb.1	+	33	5362	c.4977A>G	c.(4975-4977)ATA>ATG	p.I1659M	ATM_uc009yxr.1_Missense_Mutation_p.I1659M|ATM_uc001pke.1_Missense_Mutation_p.I311M|ATM_uc001pkg.1_Missense_Mutation_p.I16M	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1659					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AGATGGCAATAAACCACACTG	0.209			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			G	108168081	A	G	108168081	3	3	19	1	0	0	0	0	1	0	0	0	1109	352	13	3	5103	3	ATM	11	108168081	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	69718	108168081	26838435	1938	16237											
DDX10	1662	broad.mit.edu	37	chr11	108559696	108559696	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttggaacagaactacatagtCtgtgagctgcagcaaaaaat	9	7	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:108559696C>T	uc001pkm.2	+	7	947	c.882C>T	c.(880-882)GTC>GTT	p.V294V	DDX10_uc001pkl.1_Silent_p.V294V	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	294	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|lung(1)|prostate(1)	4		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		ACTACATAGTCTGTGAGCTGC	0.378			T	NUP98	AML*								T	108559696	C	T	108559696	2	4	19	1	0	0	0	0	0	0	0	1	4342	900	32	4		4	DDX10	11	108559696	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	391615	108559696	26446820	1939	16238											
POU2AF1	5450	broad.mit.edu	37	chr11	111228205	111228205	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtggcggagaggcataggTcaacactgaggagggcccca	17	9	1	2	rs1042750		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:111228205T>C	uc001plg.3	-	4	676	c.421A>G	c.(421-423)ACC>GCC	p.T141A		NM_006235	NP_006226	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	141					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			kidney(1)	1		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GAGGCATAGGTCAACACTGAG	0.577			T	BCL6	NHL								C	111228205	T	C	111228205	3	2	19	1	0	0	0	0	1	0	0	0	12270	1667	58	3	357	3	POU2AF1	11	111228205	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2668509	111228205	23778311	1940	16239											
C11orf88	399949	broad.mit.edu	37	chr11	111385697	111385697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcagagacagcagtcagcGtctgccggtggcgcggccca	16	14	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:111385697G>A	uc001pln.3	+	1	188	c.188G>A	c.(187-189)CGT>CAT	p.R63H	BTG4_uc001plj.2_5'Flank|BTG4_uc001plk.2_5'Flank|C11orf88_uc009yyd.2_Missense_Mutation_p.R63H|C11orf88_uc001plo.1_Missense_Mutation_p.R63H	NM_001100388	NP_001093858	Q6PI97	CK088_HUMAN	hypothetical protein LOC399949 isoform 2	63											0						AGCAGTCAGCGTCTGCCGGTG	0.592											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	111385697	G	A	111385697	3	1	19	1	0	0	0	0	1	0	0	0	1670	1145	40	1	190	1	C11orf88	11	111385697	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	157492	111385697	23620819	1941	16240											
SIK2	23235	broad.mit.edu	37	chr11	111558769	111558769	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatgagtctgaagccaggCgaaaattctggcaaatcctg	10	8	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:111558769C>T	uc001plt.2	+	4	479	c.361C>T	c.(361-363)CGA>TGA	p.R121*		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	121	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						TGAAGCCAGGCGAAAATTCTG	0.398													T	111558769	C	T	111558769	4	4	19	1	0	0	0	0	0	1	0	0	14318	760	27	1	375	1	SIK2	11	111558769	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	173072	111558769	23447747	1942	16241											
PPP2R1B	5519	broad.mit.edu	37	chr11	111618736	111618736	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcatcaaagaattccacAccctacagatacagaagatt	4	10	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:111618736A>G	uc001plx.1	-	11	1425	c.1341T>C	c.(1339-1341)GGT>GGC	p.G447G	PPP2R1B_uc001plw.1_Silent_p.G447G|PPP2R1B_uc010rwi.1_Silent_p.G383G|PPP2R1B_uc010rwj.1_Silent_p.G286G|PPP2R1B_uc010rwk.1_Silent_p.G402G|PPP2R1B_uc010rwl.1_Silent_p.G320G	NM_002716	NP_002707	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	447	HEAT 11.						protein binding				0		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		AGAATTCCACACCCTACAGAT	0.348													G	111618736	A	G	111618736	2	3	19	1	0	0	0	0	0	0	0	1	12383	146	6	3		3	PPP2R1B	11	111618736	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	59967	111618736	23387780	1943	16242											
DRD2	1813	broad.mit.edu	37	chr11	113295190	113295190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggtctgcagcgccttctCgcgggacacagccatgcaca	13	14	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:113295190C>T	uc001pnz.2	-	1	505	c.184G>A	c.(184-186)GAG>AAG	p.E62K	DRD2_uc010rwv.1_Missense_Mutation_p.E62K|DRD2_uc001poa.3_Missense_Mutation_p.E62K|DRD2_uc001pob.3_Missense_Mutation_p.E62K|DRD2_uc009yyr.1_Missense_Mutation_p.E62K	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	62	Cytoplasmic (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	AGCGCCTTCTCGCGGGACACA	0.612													T	113295190	C	T	113295190	3	4	19	1	0	0	0	0	1	0	0	0	4757	893	31	1	1175	1	DRD2	11	113295190	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1676454	113295190	21711326	1944	16243											
USP28	57646	broad.mit.edu	37	chr11	113685907	113685907	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagccaaccttgtatatctTgttcaatctcactcctccat	4	13	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:113685907T>C	uc001poh.2	-	14	1694	c.1661A>G	c.(1660-1662)CAA>CGA	p.Q554R	USP28_uc001pog.2_Missense_Mutation_p.Q262R|USP28_uc010rwy.1_Missense_Mutation_p.Q429R|USP28_uc001poi.2_Intron|USP28_uc001poj.3_Missense_Mutation_p.Q554R	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	554					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TTGTATATCTTGTTCAATCTC	0.403													C	113685907	T	C	113685907	3	2	19	1	0	0	0	0	1	0	0	0	17055	1812	63	3	1620	3	USP28	11	113685907	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	390717	113685907	21320609	1945	16244											
CADM1	23705	broad.mit.edu	37	chr11	115110994	115110994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatagagatggaaacttacGcctgaagtccctgaaataaa	8	8	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:115110994G>A	uc001ppi.3	-	2	400	c.271C>T	c.(271-273)CCT>TCT	p.P91S	CADM1_uc001ppf.3_Missense_Mutation_p.P91S|CADM1_uc001ppk.3_Missense_Mutation_p.P91S|CADM1_uc001ppj.3_Missense_Mutation_p.P91S|CADM1_uc001ppl.2_Missense_Mutation_p.P91S	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	91	Ig-like V-type.|Extracellular (Potential).				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			ovary(2)	2	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GGAAACTTACGCCTGAAGTCC	0.398													A	115110994	G	A	115110994	3	1	19	1	0	0	0	0	1	0	0	0	2566	1101	38	1	1093	1	CADM1	11	115110994	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1425087	115110994	19895522	1946	16245											
TAGLN	6876	broad.mit.edu	37	chr11	117073840	117073840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggagtggatcatagtgcaGtgtggccctgatgtgggccg	18	7	1	1	rs140777664		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:117073840G>A	uc001pqm.2	+	2	232	c.111G>A	c.(109-111)CAG>CAA	p.Q37Q	uc001pqk.1_5'Flank|TAGLN_uc001pql.1_Intron|TAGLN_uc001pqn.2_Silent_p.Q37Q|TAGLN_uc001pqo.2_Silent_p.Q37Q|TAGLN_uc001pqp.2_Silent_p.Q37Q|uc001pqq.1_5'Flank	NM_003186	NP_003177	Q01995	TAGL_HUMAN	transgelin	37	CH.				muscle organ development	cytoplasm	actin binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)		TCATAGTGCAGTGTGGCCCTG	0.622													A	117073840	G	A	117073840	2	1	19	1	0	0	0	0	0	0	0	1	15535	1020	36	4		4	TAGLN	11	117073840	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1962846	117073840	17932676	1947	16246											
PCSK7	9159	broad.mit.edu	37	chr11	117090382	117090382	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcacctgcagcattaaggcTatcatgccagctgccagagg	11	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:117090382T>C	uc001pqr.2	-	10	1449	c.1248A>G	c.(1246-1248)ATA>ATG	p.I416M		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	416	Catalytic.|Extracellular (Potential).				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GCATTAAGGCTATCATGCCAG	0.602			T	IGH@	MLCLS								C	117090382	T	C	117090382	3	2	19	1	0	0	0	0	1	0	0	0	11605	1512	53	3	1141	3	PCSK7	11	117090382	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	16542	117090382	17916134	1948	16247											
CEP164	22897	broad.mit.edu	37	chr11	117266307	117266307	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaggaggcacagaaggaGcacacccacctgttgcagtc	13	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:117266307G>A	uc001prc.2	+	24	3105	c.2958G>A	c.(2956-2958)GAG>GAA	p.E986E	CEP164_uc001prb.2_Silent_p.E989E|CEP164_uc010rxk.1_Silent_p.E960E|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Silent_p.E419E	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	986					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CACAGAAGGAGCACACCCACC	0.572													A	117266307	G	A	117266307	2	1	19	1	0	0	0	0	0	0	0	1	3249	962	34	2		2	CEP164	11	117266307	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	175925	117266307	17740209	1949	16248											
AMICA1	120425	broad.mit.edu	37	chr11	118065068	118065068	+	Frame_Shift_Del	DEL	C	C	-													cttgctgtgtttttggcattCccccacctgactttttttca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:118065067_118065067TC>T	uc001psk.2	-	9	1332	c.1158_1158GA>A	c.(1156-1158)ggafs	p.G386fs	AMICA1_uc001psg.2_Frame_Shift_Del_p.G196fs|AMICA1_uc001psh.2_Frame_Shift_Del_p.G347fs|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Frame_Shift_Del_p.G376fs|AMICA1_uc010rxw.1_Frame_Shift_Del_p.G347fs	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	386					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TTTTTGGCATTCCCCCACCTG	0.507													-	118065068	C	-	118065068	7	5	19	1	0	1	0	1	0	0	0	0	574	855	30	0	31	0	AMICA1	11	118065068	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	798761	118065068	16941448	1950	16249											
PHLDB1	23187	broad.mit.edu	37	chr11	118516286	118516286	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagcacgcctatgatacgCtgagtctggagagctctgac	13	10	2	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:118516286C>T	uc001ptr.1	+	17	3687	c.3334C>T	c.(3334-3336)CTG>TTG	p.L1112L	PHLDB1_uc001pts.2_Silent_p.L1112L|PHLDB1_uc001ptt.2_Silent_p.L1065L|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Silent_p.L927L|PHLDB1_uc001ptw.1_Silent_p.L467L|PHLDB1_uc009zai.1_Silent_p.L148L|PHLDB1_uc001ptx.1_Silent_p.L148L|PHLDB1_uc010ryi.1_Silent_p.L255L	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	1112											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTATGATACGCTGAGTCTGGA	0.657													T	118516286	C	T	118516286	2	4	19	1	0	0	0	0	0	0	0	1	11851	796	28	2		2	PHLDB1	11	118516286	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	451218	118516286	16490230	1951	16250											
BCL9L	283149	broad.mit.edu	37	chr11	118770905	118770905	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggccgctaggcgggagggTacctacagaaacggggagac	19	9	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:118770905T>C	uc001pug.2	-	7	4092	c.3127A>G	c.(3127-3129)ACC>GCC	p.T1043A	BCL9L_uc009zal.2_Missense_Mutation_p.T1038A	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1043	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGCGGGAGGGTACCTACAGAA	0.627													C	118770905	T	C	118770905	3	2	19	1	0	0	0	0	1	0	0	0	1382	1638	57	3	1380	3	BCL9L	11	118770905	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	254619	118770905	16235611	1952	16251											
HYOU1	10525	broad.mit.edu	37	chr11	118925262	118925262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatagctgagggcagtggCggtgttgtcattgatgagct	15	7	1	3	rs139437097	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:118925262C>T	uc001puu.2	-	7	815	c.622G>A	c.(622-624)GCC>ACC	p.A208T	HYOU1_uc001put.2_Missense_Mutation_p.A173T|HYOU1_uc010ryu.1_Missense_Mutation_p.A228T|HYOU1_uc010ryv.1_Missense_Mutation_p.A97T|HYOU1_uc001pux.3_Missense_Mutation_p.A208T|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.A208T	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	208						endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		AGGGCAGTGGCGGTGTTGTCA	0.587													T	118925262	C	T	118925262	3	4	19	1	0	0	0	0	1	0	0	0	7470	768	27	1	2457	1	HYOU1	11	118925262	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	154357	118925262	16081254	1953	16252											
HINFP	25988	broad.mit.edu	37	chr11	119003653	119003653	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggtgtgattttgagaacTgcaccttcagtgcccgatcc	10	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:119003653T>C	uc001pvp.2	+	9	1144	c.955T>C	c.(955-957)TGC>CGC	p.C319R	HINFP_uc001pvq.2_Missense_Mutation_p.C319R|HINFP_uc001pvr.2_Missense_Mutation_p.C72R	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN	MBD2 (methyl-CpG-binding protein)-interacting	319	C2H2-type 8.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						TTTTGAGAACTGCACCTTCAG	0.517													C	119003653	T	C	119003653	3	2	19	1	0	0	0	0	1	0	0	0	7110	1580	55	3	981	3	HINFP	11	119003653	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	78391	119003653	16002863	1954	16253											
PDZD3	79849	broad.mit.edu	37	chr11	119058341	119058341	+	Frame_Shift_Del	DEL	G	G	-													agcgggcaggggtgccccccGgggcccggctgctggaagtg					rs142670540		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:119058341delG	uc001pwb.2	+	4	1311	c.787delG	c.(787-789)GGGfs	p.G263fs	PDZD3_uc001pvy.2_Frame_Shift_Del_p.G197fs|PDZD3_uc001pvz.2_Frame_Shift_Del_p.G197fs|PDZD3_uc010rzd.1_Frame_Shift_Del_p.G184fs|PDZD3_uc001pwa.2_5'UTR			Q86UT5	NHRF4_HUMAN	RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4;          Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4;	263	PDZ 2.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)	1	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GGTGCCCCCCGGGGCCCGGCT	0.567													-	119058341	G	-	119058341	7	5	19	1	0	1	0	1	0	0	0	0	11702	1116	39	0	611	0	PDZD3	11	119058341	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	54688	119058341	15948175	1955	16254											
C1QTNF5	114902	broad.mit.edu	37	chr11	119216273	119216273	+	Frame_Shift_Del	DEL	G	G	-													tgccacacgcagtgggtgttGggggggtaagggtctgggta							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:119216272_119216272TG>T	uc010rzg.1	-	4	659	c.499_499CA>A	c.(499-501)aacfs	p.N167fs	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	167	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CAGTGGGTGTTGGGGGGGTAA	0.567													-	119216273	G	-	119216273	7	5	19	1	0	1	0	1	0	0	0	0	1966	1335	47	0		0	C1QTNF5	11	119216273	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	157932	119216273	15790243	1956	16255											
POU2F3	25833	broad.mit.edu	37	chr11	120175748	120175748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctatcaggcatttgggCaccctgggctgccaggatcc	11	13	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:120175748C>T	uc001pxc.2	+	7	556	c.454C>T	c.(454-456)CAC>TAC	p.H152Y	POU2F3_uc010rzk.1_Missense_Mutation_p.H106Y|POU2F3_uc010rzl.1_Missense_Mutation_p.H82Y|POU2F3_uc001pxe.1_5'Flank	NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN	POU transcription factor	152					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			ovary(1)|skin(1)	2		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GGCATTTGGGCACCCTGGGCT	0.458													T	120175748	C	T	120175748	3	4	19	1	0	0	0	0	1	0	0	0	12273	710	25	2	480	2	POU2F3	11	120175748	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	959475	120175748	14830768	1957	16256											
ARHGEF12	23365	broad.mit.edu	37	chr11	120343776	120343776	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgcctagaagattatcaGcgtcgccttgatacctccag	9	13	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:120343776G>A	uc001pxl.1	+	31	2980	c.2973G>A	c.(2971-2973)CAG>CAA	p.Q991Q	ARHGEF12_uc009zat.2_Silent_p.Q972Q|ARHGEF12_uc010rzn.1_Silent_p.Q888Q|ARHGEF12_uc009zau.1_Silent_p.Q888Q	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	991					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AAGATTATCAGCGTCGCCTTG	0.318			T	MLL	AML								A	120343776	G	A	120343776	2	1	19	1	0	0	0	0	0	0	0	1	897	962	34	2		2	ARHGEF12	11	120343776	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	168028	120343776	14662740	1958	16257											
GRIK4	2900	broad.mit.edu	37	chr11	120827592	120827592	+	Frame_Shift_Del	DEL	G	G	-													acagcctctggtttccggtcGgggggttcatgcagcaaggc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:120827591_120827591CG>C	uc001pxn.2	+	15	2090	c.1803_1803CG>C	c.(1801-1803)gtcfs	p.V601fs	GRIK4_uc009zav.1_Frame_Shift_Del_p.V601fs|GRIK4_uc009zaw.1_Frame_Shift_Del_p.V601fs|GRIK4_uc009zax.1_Frame_Shift_Del_p.V601fs	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	601					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GGTTTCCGGTCGGGGGGTTCA	0.647													-	120827592	G	-	120827592	7	5	19	1	0	1	0	1	0	0	0	0	6776	1116	39	0	1858	0	GRIK4	11	120827592	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	483816	120827592	14178924	1959	16258											
SORL1	6653	broad.mit.edu	37	chr11	121481852	121481852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaagcttcaccctgaccatGgagagtgatatcaaggtaat	9	9	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:121481852G>A	uc001pxx.2	+	39	5387	c.5307G>A	c.(5305-5307)ATG>ATA	p.M1769I	SORL1_uc010rzp.1_Missense_Mutation_p.M615I|SORL1_uc010rzq.1_Missense_Mutation_p.M384I	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1769	Extracellular (Potential).|Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCCTGACCATGGAGAGTGATA	0.418													A	121481852	G	A	121481852	3	1	19	1	0	0	0	0	1	0	0	0	14934	1348	47	4	5461	4	SORL1	11	121481852	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	654260	121481852	13524664	1960	16259											
C11orf63	79864	broad.mit.edu	37	chr11	122774696	122774696	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgaactggaagagtaagaaGgaggaagggcagctgctgtc	16	7	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:122774696G>T	uc001pym.2	+	3	705	c.408G>T	c.(406-408)AAG>AAT	p.K136N	C11orf63_uc001pyl.1_Missense_Mutation_p.K136N	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	136										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AGAGTAAGAAGGAGGAAGGGC	0.512													T	122774696	G	T	122774696	3	4	19	1	0	0	0	0	1	0	0	0	1654	991	35	5	414	5	C11orf63	11	122774696	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1292844	122774696	12231820	1961	16260											
HSPA8	3312	broad.mit.edu	37	chr11	122931470	122931470	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcatatcagactggacaacaGcatcatcaaatctgcgtcca	6	12	5	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:122931470G>C	uc001pyo.2	-	3	320	c.242C>G	c.(241-243)GCT>GGT	p.A81G	HSPA8_uc009zbc.2_5'Flank|HSPA8_uc001pyp.2_Missense_Mutation_p.A81G|HSPA8_uc010rzu.1_Intron|HSPA8_uc009zbd.1_Missense_Mutation_p.A81G|HSPA8_uc010rzv.1_Missense_Mutation_p.A81G	NM_006597	NP_006588	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8 isoform 1	81					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			central_nervous_system(7)|lung(1)	8		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTGGACAACAGCATCATCAAA	0.423													C	122931470	G	C	122931470	3	2	19	1	0	0	0	0	1	0	0	0	7416	971	34	5	1726	5	HSPA8	11	122931470	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	156774	122931470	12075046	1962	16261											
OR6M1	390261	broad.mit.edu	37	chr11	123676424	123676424	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgtacacgtaggacccagTagtgaatgccagggagctca	12	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:123676424T>C	uc010rzz.1	-	1	634	c.634A>G	c.(634-636)ACT>GCT	p.T212A		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TAGGACCCAGTAGTGAATGCC	0.488													C	123676424	T	C	123676424	3	2	19	1	0	0	0	0	1	0	0	0	11205	1638	57	3	310	3	OR6M1	11	123676424	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	744954	123676424	11330092	1963	16262											
OR4D5	219875	broad.mit.edu	37	chr11	123810556	123810556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctactcttccatcacagCacctaggatgctggttgact	8	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:123810556C>T	uc001pzk.1	+	1	233	c.233C>T	c.(232-234)GCA>GTA	p.A78V		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D,	78	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCCATCACAGCACCTAGGATG	0.478													T	123810556	C	T	123810556	3	4	19	1	0	0	0	0	1	0	0	0	11057	710	25	2	235	2	OR4D5	11	123810556	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	134132	123810556	11195960	1964	16263											
OR10S1	219873	broad.mit.edu	37	chr11	123847770	123847770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctggcaagcatgactagcTcattaatggtggtgtctgta	12	7	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:123847770T>C	uc001pzm.1	-	1	629	c.629A>G	c.(628-630)GAG>GGG	p.E210G		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	210	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CATGACTAGCTCATTAATGGT	0.542													C	123847770	T	C	123847770	3	2	19	1	0	0	0	0	1	0	0	0	10918	1551	54	3	370	3	OR10S1	11	123847770	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	37214	123847770	11158746	1965	16264											
OR8D1	283159	broad.mit.edu	37	chr11	124180293	124180293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgggctacagatggcaaCatagcgatcatatgccatgg	12	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:124180293C>T	uc010sag.1	-	1	370	c.370G>A	c.(370-372)GTT>ATT	p.V124I		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CAGATGGCAACATAGCGATCA	0.493													T	124180293	C	T	124180293	3	4	19	1	0	0	0	0	1	0	0	0	11231	478	17	4	559	4	OR8D1	11	124180293	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	332523	124180293	10826223	1966	16265											
PANX3	116337	broad.mit.edu	37	chr11	124487357	124487357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcagaagagttccgaccCctatgtgttctggaatgagc	12	11	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:124487357C>T	uc001qah.2	+	3	512	c.512C>T	c.(511-513)CCC>CTC	p.P171L		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	pannexin 3	171	Cytoplasmic (Potential).				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		AGTTCCGACCCCTATGTGTTC	0.448													T	124487357	C	T	124487357	3	4	19	1	0	0	0	0	1	0	0	0	11422	623	22	4	522	4	PANX3	11	124487357	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	307064	124487357	10519159	1967	16266											
ESAM	90952	broad.mit.edu	37	chr11	124624154	124624154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggccttgccccggcggtgGtacaagaggaccagcccagc	15	14	0	1	rs143828847		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:124624154G>A	uc001qav.3	-	6	986	c.813C>T	c.(811-813)TAC>TAT	p.Y271Y	VSIG2_uc001qas.2_5'Flank|VSIG2_uc001qat.2_5'Flank|ESAM_uc010sao.1_Silent_p.Y92Y|ESAM_uc001qau.3_Silent_p.Y198Y|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_Silent_p.Y271Y	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule precursor	271	Cytoplasmic (Potential).				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction					0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CCCGGCGGTGGTACAAGAGGA	0.627													A	124624154	G	A	124624154	2	1	19	1	0	0	0	0	0	0	0	1	5247	1256	44	4		4	ESAM	11	124624154	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	136797	124624154	10382362	1968	16267											
CDON	50937	broad.mit.edu	37	chr11	125887164	125887164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaatacacttgaggagcCgggaccccactcaccacaca	8	16	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:125887164C>T	uc009zbw.2	-	6	875	c.747G>A	c.(745-747)CCG>CCA	p.P249P	CDON_uc001qdc.3_Silent_p.P249P|CDON_uc001qdd.3_RNA|CDON_uc009zbx.2_Silent_p.P249P	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	249	Extracellular (Potential).|Ig-like C2-type 3.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CTTGAGGAGCCGGGACCCCAC	0.517													T	125887164	C	T	125887164	2	4	19	1	0	0	0	0	0	0	0	1	3170	639	23	1		1	CDON	11	125887164	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1263010	125887164	9119352	1969	16268											
RPUSD4	84881	broad.mit.edu	37	chr11	126081527	126081527	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgacgcgctccacctgggcgCcgccatcttacaaggaaggg	13	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:126081527C>A	uc001qde.2	-	1	61	c.7G>T	c.(7-9)GCG>TCG	p.A3S	FAM118B_uc001qdf.2_5'Flank|FAM118B_uc009zca.2_5'Flank|FAM118B_uc001qdg.2_5'Flank|RPUSD4_uc009zbz.2_Missense_Mutation_p.A3S|RPUSD4_uc009zby.2_RNA	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	3					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)	1	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CACCTGGGCGCCGCCATCTTA	0.662													A	126081527	C	A	126081527	3	1	19	1	0	0	0	0	1	0	0	0	13669	739	26	5	1154	5	RPUSD4	11	126081527	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	194363	126081527	8924989	1970	16269											
KIRREL3	84623	broad.mit.edu	37	chr11	126396434	126396434	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggtctggaggtactcactTgagaggtccctgcccacacc	12	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:126396434T>C	uc001qea.2	-	3	643	c.282A>G	c.(280-282)TCA>TCG	p.S94S	KIRREL3_uc001qeb.2_Silent_p.S94S|KIRREL3_uc001qec.1_Silent_p.S94S	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	94	Ig-like C2-type 1.|Extracellular (Potential).				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GGTACTCACTTGAGAGGTCCC	0.597													C	126396434	T	C	126396434	2	2	19	1	0	0	0	0	0	0	0	1	8326	1826	63	3		3	KIRREL3	11	126396434	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	314907	126396434	8610082	1971	16270											
ETS1	2113	broad.mit.edu	37	chr11	128350194	128350194	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgggcttgtggttgggcaGggcagccggatagtcctctg	17	9	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:128350194G>T	uc010sbs.1	-	6	1199	c.883C>A	c.(883-885)CTG>ATG	p.L295M	ETS1_uc001qej.2_Missense_Mutation_p.L339M|ETS1_uc009zch.2_Missense_Mutation_p.L79M|ETS1_uc009zcg.2_Intron	NM_005238	NP_005229	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	295					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(4)|central_nervous_system(1)|pleura(1)	6	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TGGTTGGGCAGGGCAGCCGGA	0.582													T	128350194	G	T	128350194	3	4	19	1	0	0	0	0	1	0	0	0	5275	991	35	5	454	5	ETS1	11	128350194	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1953760	128350194	6656322	1972	16271											
ADAMTS8	11095	broad.mit.edu	37	chr11	130281492	130281492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccagcctccatctgccaCgggctgcaacatacaatggc	9	16	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:130281492C>T	uc001qgg.3	-	6	1928	c.1570G>A	c.(1570-1572)GTG>ATG	p.V524M	ADAMTS8_uc001qgf.2_Missense_Mutation_p.V5M	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	524	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCATCTGCCACGGGCTGCAAC	0.577													T	130281492	C	T	130281492	3	4	19	1	0	0	0	0	1	0	0	0	272	536	19	1	1115	1	ADAMTS8	11	130281492	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1931298	130281492	4725024	1973	16272											
IGSF9B	22997	broad.mit.edu	37	chr11	133790374	133790374	+	Frame_Shift_Del	DEL	G	G	-													gcgggcacctgcagggaggtGgggggcagtcctcgggggag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:133790373_133790373TG>T	uc001qgx.4	-	17	3478	c.3247_3247CA>A	c.(3247-3249)accfs	p.T1083fs		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	1083	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGCAGGGAGGTGGGGGGCAGT	0.716													-	133790374	G	-	133790374	7	5	19	1	0	1	0	1	0	0	0	0	7606	1335	47	0	811	0	IGSF9B	11	133790374	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	3508882	133790374	1216142	1974	16273											
IGSF9B	22997	broad.mit.edu	37	chr11	133790518	133790518	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagggctcaggggagcgCcctcctgtaggtgtctgagt	15	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:133790518C>T	uc001qgx.3	-	18	3333	c.3102G>A	c.(3100-3102)GGG>GGA	p.G1034G		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1034	Pro-rich.|Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CAGGGGAGCGCCCTCCTGTAG	0.662													T	133790518	C	T	133790518	2	4	19	1	0	0	0	0	0	0	0	1	7606	726	26	2		2	IGSF9B	11	133790518	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	144	133790518	1215998	1975	16274											
KDM5A	5927	broad.mit.edu	37	chr12	419071	419071	+	Frame_Shift_Del	DEL	T	T	-													ttttctattagttcttttacTtttttcctcctatttttgcc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:419071delT	uc001qif.1	-	22	3639	c.3276delA	c.(3274-3276)AAAfs	p.K1092fs	KDM5A_uc001qie.1_Frame_Shift_Del_p.K1092fs|KDM5A_uc010sdn.1_Frame_Shift_Del_p.K1051fs	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	1092					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						GTTCTTTTACTTTTTTCCTCC	0.418			T 	NUP98	AML								-	419071	T	-	419071	7	5	19	1	0	1	0	1	0	0	0	0	8133	1606	56	0	1824	0	KDM5A	12	419071	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08		419071	133432824	1976	16275											
CACNA1C	775	broad.mit.edu	37	chr12	2162730	2162730	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaaccatttttggtccaTggtcaatgagaatacgagga	9	6	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:2162730T>C	uc009zdu.1	+	1	315	c.2T>C	c.(1-3)ATG>ACG	p.M1T	CACNA1C_uc009zdv.1_Missense_Mutation_p.M1T|CACNA1C_uc001qkb.2_Missense_Mutation_p.M1T|CACNA1C_uc001qkc.2_Missense_Mutation_p.M1T|CACNA1C_uc001qke.2_Missense_Mutation_p.M1T|CACNA1C_uc001qkf.2_Missense_Mutation_p.M1T|CACNA1C_uc001qjz.2_Missense_Mutation_p.M1T|CACNA1C_uc001qkd.2_Missense_Mutation_p.M1T|CACNA1C_uc001qkg.2_Missense_Mutation_p.M1T|CACNA1C_uc009zdw.1_Missense_Mutation_p.M1T|CACNA1C_uc001qkh.2_Missense_Mutation_p.M1T|CACNA1C_uc001qkl.2_Missense_Mutation_p.M1T|CACNA1C_uc001qkn.2_Missense_Mutation_p.M1T|CACNA1C_uc001qko.2_Missense_Mutation_p.M1T|CACNA1C_uc001qkp.2_Missense_Mutation_p.M1T|CACNA1C_uc001qkr.2_Missense_Mutation_p.M1T|CACNA1C_uc001qku.2_Missense_Mutation_p.M1T|CACNA1C_uc001qkq.2_Missense_Mutation_p.M1T|CACNA1C_uc001qks.2_Missense_Mutation_p.M1T|CACNA1C_uc001qkt.2_Missense_Mutation_p.M1T	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TTTTGGTCCATGGTCAATGAG	0.562													C	2162730	T	C	2162730	3	2	19	1	0	0	0	0	1	0	0	0	2540	1464	51	3	4	3	CACNA1C	12	2162730	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1743659	2162730	131689165	1977	16276											
NDUFA9	4704	broad.mit.edu	37	chr12	4791406	4791406	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccttttccacctggtgaagtAcatctttgctgtggctcaca	8	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:4791406A>T	uc001qnc.2	+	9	846	c.836A>T	c.(835-837)TAC>TTC	p.Y279F	NDUFA9_uc010ses.1_Missense_Mutation_p.Y60F	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	279					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	CTGGTGAAGTACATCTTTGCT	0.428													T	4791406	A	T	4791406	3	4	19	1	0	0	0	0	1	0	0	0	10272	391	14	5	870	5	NDUFA9	12	4791406	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2628676	4791406	129060489	1978	16277											
GALNT8	26290	broad.mit.edu	37	chr12	4848407	4848407	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatgaagctctgtccatTatacaacgggccatcaccag	9	11	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:4848407T>C	uc001qne.1	+	3	680	c.588T>C	c.(586-588)ATT>ATC	p.I196I		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	196	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(1)|skin(1)	4						CTCTGTCCATTATACAACGGG	0.438													C	4848407	T	C	4848407	2	2	19	1	0	0	0	0	0	0	0	1	6219	1742	61	3		3	GALNT8	12	4848407	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	57001	4848407	129003488	1979	16278											
VWF	7450	broad.mit.edu	37	chr12	6230409	6230409	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtatcccgcaaagctgtAcatgctcccatcaaaggtgt	9	12	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:6230409A>G	uc001qnn.1	-	3	401	c.151T>C	c.(151-153)TAC>CAC	p.Y51H	VWF_uc010set.1_Missense_Mutation_p.Y51H|VWF_uc001qno.1_Missense_Mutation_p.Y88H	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	51	VWFD 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	GCAAAGCTGTACATGCTCCCA	0.562													G	6230409	A	G	6230409	3	3	19	1	0	0	0	0	1	0	0	0	17243	391	14	3	8490	3	VWF	12	6230409	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1382002	6230409	127621486	1980	16279											
CHD4	1108	broad.mit.edu	37	chr12	6696642	6696642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctgtgtcttcagtctcatCctggttacggtctagcagcc	9	12	5	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:6696642C>T	uc001qpo.2	-	25	3951	c.3787G>A	c.(3787-3789)GAT>AAT	p.D1263N	CHD4_uc001qpn.2_Missense_Mutation_p.D1256N|CHD4_uc001qpp.2_Missense_Mutation_p.D1260N	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1263					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCAGTCTCATCCTGGTTACGG	0.448													T	6696642	C	T	6696642	3	4	19	1	0	0	0	0	1	0	0	0	3327	855	30	4	2015	4	CHD4	12	6696642	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	466233	6696642	127155253	1981	16280											
CHD4	1108	broad.mit.edu	37	chr12	6700956	6700956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctctgattagggcactGccatcatacatgccattagg	10	10	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:6700956G>A	uc001qpo.2	-	21	3290	c.3126C>T	c.(3124-3126)GGC>GGT	p.G1042G	CHD4_uc001qpn.2_Silent_p.G1035G|CHD4_uc001qpp.2_Silent_p.G1039G	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1042					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTAGGGCACTGCCATCATACA	0.448													A	6700956	G	A	6700956	2	1	19	1	0	0	0	0	0	0	0	1	3327	1306	46	2		2	CHD4	12	6700956	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	4314	6700956	127150939	1982	16281											
ENO2	2026	broad.mit.edu	37	chr12	7031312	7031312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgctgacctggtggtgggGctgtgcacaggccaggtgag	18	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:7031312G>A	uc001qru.1	+	10	1383	c.1161G>A	c.(1159-1161)GGG>GGA	p.G387G	ENO2_uc009zfi.1_Silent_p.G387G|ENO2_uc010sfq.1_Silent_p.G344G|ENO2_uc001qrv.1_Silent_p.G387G|ATN1_uc001qrw.1_5'Flank	NM_001975	NP_001966	P09104	ENOG_HUMAN	enolase 2	387					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity				0						TGGTGGTGGGGCTGTGCACAG	0.572													A	7031312	G	A	7031312	2	1	19	1	0	0	0	0	0	0	0	1	5122	1190	42	2		2	ENO2	12	7031312	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	330356	7031312	126820583	1983	16282											
PTPN6	5777	broad.mit.edu	37	chr12	7069334	7069334	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcagacggaggcgcagTacaagttcatctacgtggcc	14	10	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:7069334T>C	uc001qsb.2	+	13	1755	c.1513T>C	c.(1513-1515)TAC>CAC	p.Y505H	PTPN6_uc001qsa.1_Missense_Mutation_p.Y507H|PTPN6_uc010sfr.1_Missense_Mutation_p.Y466H|PTPN6_uc009zfl.1_Missense_Mutation_p.Y505H|PTPN6_uc010sfs.1_Missense_Mutation_p.Y493H	NM_002831	NP_002822	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type	505	Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)	1						GGAGGCGCAGTACAAGTTCAT	0.627													C	7069334	T	C	7069334	3	2	19	1	0	0	0	0	1	0	0	0	12792	1638	57	3	1581	3	PTPN6	12	7069334	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	38022	7069334	126782561	1984	16283											
C1RL	51279	broad.mit.edu	37	chr12	7249400	7249400	+	Frame_Shift_Del	DEL	G	G	-													cgggaggacgttggggcccaGggggatgctgtgctgcagct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:7249400delG	uc001qsn.2	-	6	1068	c.1051delC	c.(1051-1053)CTGfs	p.L351fs	C1RL_uc009zft.2_3'UTR	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	351	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			pancreas(1)	1						TTGGGGCCCAGGGGGATGCTG	0.617													-	7249400	G	-	7249400	7	5	19	1	0	1	0	1	0	0	0	0	1973	991	35	0	416	0	C1RL	12	7249400	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	180066	7249400	126602495	1985	16284											
SLC2A3	6515	broad.mit.edu	37	chr12	8083863	8083863	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccaccagaattccaacaAcgatgcccagctggttgaga	11	12	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:8083863A>G	uc001qtr.2	-	4	750	c.488T>C	c.(487-489)GTT>GCT	p.V163A	SLC2A3_uc001qts.2_Missense_Mutation_p.V163A	NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	163	Helical; Name=5; (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		AATTCCAACAACGATGCCCAG	0.433													G	8083863	A	G	8083863	3	3	19	1	0	0	0	0	1	0	0	0	14545	43	2	3	1030	3	SLC2A3	12	8083863	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	834463	8083863	125768032	1986	16285											
C3AR1	719	broad.mit.edu	37	chr12	8211659	8211659	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccacggccactcgaaaggTtttgctctgagacttggcga	11	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:8211659T>C	uc001qtv.1	-	2	1215	c.1123A>G	c.(1123-1125)ACC>GCC	p.T375A		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	375	Cytoplasmic (Potential).				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)	1				Kidney(36;0.0893)		ACTCGAAAGGTTTTGCTCTGA	0.512													C	8211659	T	C	8211659	3	2	19	1	0	0	0	0	1	0	0	0	2205	1725	60	3	329	3	C3AR1	12	8211659	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	127796	8211659	125640236	1987	16286											
A2ML1	144568	broad.mit.edu	37	chr12	8982328	8982328	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgttcctttccagtgtatTtccgcattgtcaccatggat	7	12	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:8982328T>C	uc001quz.3	+	4	513	c.415T>C	c.(415-417)TTC>CTC	p.F139L		NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	Error:Variant_position_missing_in_B3KVV6_after_alignment						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						TCCAGTGTATTTCCGCATTGT	0.383													C	8982328	T	C	8982328	3	2	19	1	0	0	0	0	1	0	0	0	5	1841	64	3	429	3	A2ML1	12	8982328	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	770669	8982328	124869567	1988	16287											
CLEC1A	51267	broad.mit.edu	37	chr12	10233996	10233996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgaccagtattggagagCtggtagtactgaaaaactaa	10	6	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:10233996C>T	uc001qxb.2	-	3	315	c.231G>A	c.(229-231)CAG>CAA	p.Q77Q	CLEC1A_uc009zhf.2_5'UTR|CLEC1A_uc001qxc.2_5'UTR|CLEC1A_uc001qxd.2_Silent_p.Q34Q|CLEC1A_uc010sgx.1_Intron	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	C-type lectin-like receptor-1	77	Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2						TATTGGAGAGCTGGTAGTACT	0.363													T	10233996	C	T	10233996	2	4	19	1	0	0	0	0	0	0	0	1	3505	796	28	2		2	CLEC1A	12	10233996	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1251668	10233996	123617899	1989	16288											
KLRD1	3824	broad.mit.edu	37	chr12	10466091	10466091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctggttgtgggagaatgGctctgcactctcccagtatc	12	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:10466091G>A	uc001qxw.3	+	6	595	c.398G>A	c.(397-399)GGC>GAC	p.G133D	KLRD1_uc001qxx.3_Missense_Mutation_p.G133D|KLRD1_uc001qxy.3_Missense_Mutation_p.G102D|KLRD1_uc009zhh.2_Missense_Mutation_p.G112D|KLRD1_uc009zhi.2_3'UTR|KLRD1_uc001qxz.3_Missense_Mutation_p.G134D	NM_001114396	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D,	133	Extracellular (Potential).|C-type lectin.				cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity				0						TGGGAGAATGGCTCTGCACTC	0.428													A	10466091	G	A	10466091	3	1	19	1	0	0	0	0	1	0	0	0	8419	1203	42	2	416	2	KLRD1	12	10466091	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	232095	10466091	123385804	1990	16289											
TAS2R30	259293	broad.mit.edu	37	chr12	11286312	11286312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttgctagcatggttagagTcatatttgaatggtacattg	11	4	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:11286312T>C	uc009zhs.1	-	1	532	c.532A>G	c.(532-534)ACT>GCT	p.T178A	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_001097643	NP_001091112			type 2 taste receptor member 30												0						ATGGTTAGAGTCATATTTGAA	0.383													C	11286312	T	C	11286312	3	2	19	1	0	0	0	0	1	0	0	0	15570	1667	58	3	431	3	TAS2R30	12	11286312	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	820221	11286312	122565583	1991	16290											
MANSC1	54682	broad.mit.edu	37	chr12	12483242	12483242	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgacatagaaagtgcagTagggttatacacattccctg	9	7	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:12483242T>C	uc001rai.1	-	4	1273	c.1015A>G	c.(1015-1017)ACT>GCT	p.T339A	MANSC1_uc010shm.1_Missense_Mutation_p.T273A|MANSC1_uc001raj.1_Missense_Mutation_p.T305A|MANSC1_uc009zht.1_Missense_Mutation_p.T258A	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	MANSC domain containing 1 precursor	339	Extracellular (Potential).					integral to membrane					0		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		GAAAGTGCAGTAGGGTTATAC	0.478													C	12483242	T	C	12483242	3	2	19	1	0	0	0	0	1	0	0	0	9224	1638	57	3	284	3	MANSC1	12	12483242	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1196930	12483242	121368653	1992	16291											
DDX47	51202	broad.mit.edu	37	chr12	12974332	12974332	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctattggagtgcagagtggTaagtgtctgagagggaaggg	18	3	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:12974332T>C	uc001rav.2	+	6	968	c.370_splice	c.e6+2	p.A124_splice	DDX47_uc009zhw.1_Splice_Site_p.A124_splice|DDX47_uc001rax.2_Splice_Site_p.A124_splice|DDX47_uc001ray.2_Splice_Site_p.A124_splice|DDX47_uc010shn.1_Silent_p.G124G	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							nucleolus|nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding				0		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TGCAGAGTGGTAAGTGTCTGA	0.488													C	12974332	T	C	12974332	5	2	19	1	0	0	0	0	0	0	1	0	4365	1652	57	3	382	3	DDX47	12	12974332	Splice_Site	SNP	T	TCGA-BR-4361-01A-01D-1158-08	491090	12974332	120877563	1993	16292											
GRIN2B	2904	broad.mit.edu	37	chr12	13715758	13715758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaagtttctcataaacatGcccattgctggagccattga	8	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:13715758G>A	uc001rbt.2	-	13	4593	c.4414C>T	c.(4414-4416)CAT>TAT	p.H1472Y		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1472	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCATAAACATGCCCATTGCTG	0.512													A	13715758	G	A	13715758	3	1	19	1	0	0	0	0	1	0	0	0	6780	1319	46	2	44	2	GRIN2B	12	13715758	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	741426	13715758	120136137	1994	16293											
ERP27	121506	broad.mit.edu	37	chr12	15068460	15068460	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaatccatcacaaaagtttTgcacatgctctacggaaact	7	10	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:15068460T>C	uc001rco.2	-	6	758	c.737A>G	c.(736-738)CAA>CGA	p.Q246R		NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27 kDa precursor	246						endoplasmic reticulum lumen				breast(1)	1						ACAAAAGTTTTGCACATGCTC	0.413													C	15068460	T	C	15068460	3	2	19	1	0	0	0	0	1	0	0	0	5241	1812	63	3	92	3	ERP27	12	15068460	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1352702	15068460	118783435	1995	16294											
ABCC9	10060	broad.mit.edu	37	chr12	22025570	22025570	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatacatacttgctccagtgAacttttccttccaatgtctg	5	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:22025570A>G	uc001rfi.1	-	16	2207	c.2187T>C	c.(2185-2187)GTT>GTC	p.V729V	ABCC9_uc001rfh.2_Silent_p.V729V|ABCC9_uc001rfj.1_Silent_p.V693V	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	729	Cytoplasmic (Potential).|ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGCTCCAGTGAACTTTTCCTT	0.408													G	22025570	A	G	22025570	2	3	19	1	0	0	0	0	0	0	0	1	59	233	9	3		3	ABCC9	12	22025570	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	6957110	22025570	111826325	1996	16295											
KRAS	3845	broad.mit.edu	37	chr12	25378562	25378562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttacctgtcttgtctttgCtgatgtttcaataaaaggaa	7	7	3	1	rs121913527		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:25378562C>T	uc001rgp.1	-	4	617	c.436G>A	c.(436-438)GCA>ACA	p.A146T	KRAS_uc001rgq.1_Missense_Mutation_p.A146T	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	146			A -> T (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.A146T(46)|p.A146V(12)|p.A146P(3)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGTCTTTGCTGATGTTTCA	0.323	A146T(LS1034_LARGE_INTESTINE)|A146T(AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|A146T(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25378562	C	T	25378562	3	4	19	1	0	0	0	0	1	0	0	0	8438	797	28	2	262	2	KRAS	12	25378562	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3352992	25378562	108473333	1997	16296											
RASSF8	11228	broad.mit.edu	37	chr12	26217646	26217646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttatacaggcagagtctgCcccccttagctaaactgagg	9	12	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:26217646C>T	uc001rgx.2	+	3	540	c.319C>T	c.(319-321)CCC>TCC	p.P107S	RASSF8_uc001rgy.2_Missense_Mutation_p.P107S|RASSF8_uc001rgz.2_Missense_Mutation_p.P107S|RASSF8_uc009zjd.1_Missense_Mutation_p.P107S|RASSF8_uc009zje.1_Missense_Mutation_p.P107S	NM_007211	NP_009142	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family	107					signal transduction						0	Colorectal(261;0.0847)					GCAGAGTCTGCCCCCCTTAGC	0.478													T	26217646	C	T	26217646	3	4	19	1	0	0	0	0	1	0	0	0	13092	739	26	2	325	2	RASSF8	12	26217646	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	839084	26217646	107634249	1998	16297											
ITPR2	3709	broad.mit.edu	37	chr12	26775327	26775328	+	Frame_Shift_Ins	INS	-	-	T													atcgtcaagttgaactggatINSttttttcttttctataaaac							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:26775326_26775327A>AT	uc001rhg.3	-	24	3551_3552	c.3134_3135T>AT	c.(3133-3135)aatfs	p.N1045fs		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1045					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GTTGAACTGGATTTTTTTCTTT	0.396													T	26775328	-	T	26775327	7	5	19	1	0	1	1	0	0	0	0	0	7921	1493	52	0	5103	0	ITPR2	12	26775327	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	557681	26775327	107076568	1999	16298											
ITPR2	3709	broad.mit.edu	37	chr12	26818903	26818903	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcggtttggcttagtgatAaccacatccagaacttcttg	8	10	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:26818903A>G	uc001rhg.2	-	14	1908	c.1491T>C	c.(1489-1491)GTT>GTC	p.V497V		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	497	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					GCTTAGTGATAACCACATCCA	0.333													G	26818903	A	G	26818903	2	3	19	1	0	0	0	0	0	0	0	1	7921	349	13	3		3	ITPR2	12	26818903	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	43576	26818903	107032992	2000	16299											
C12orf11	55726	broad.mit.edu	37	chr12	27070614	27070614	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtacaccactttaatgtTattgtttctttaaacgagcc	7	8	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:27070614T>C	uc001rhk.3	-	9	1479	c.942A>G	c.(940-942)ATA>ATG	p.I314M	C12orf11_uc001rhj.3_Translation_Start_Site|C12orf11_uc010sjk.1_Missense_Mutation_p.I213M	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	314					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)					ACTTTAATGTTATTGTTTCTT	0.313													C	27070614	T	C	27070614	3	2	19	1	0	0	0	0	1	0	0	0	1675	1744	61	3	1214	3	C12orf11	12	27070614	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	251711	27070614	106781281	2001	16300											
KLHDC5	57542	broad.mit.edu	37	chr12	27944677	27944677	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtggctgttaattcaaaactCtatgccatcggagggcaggc	12	9	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:27944677C>G	uc001rij.2	+	2	986	c.909C>G	c.(907-909)CTC>CTG	p.L303L	KLHDC5_uc009zjj.2_RNA	NM_020782	NP_065833	Q9P2K6	KLDC5_HUMAN	kelch domain containing 5	303	Kelch 3.									ovary(1)|central_nervous_system(1)	2	Lung SC(9;0.0873)					ATTCAAAACTCTATGCCATCG	0.468													G	27944677	C	G	27944677	2	3	19	1	0	0	0	0	0	0	0	1	8359	900	32	5		5	KLHDC5	12	27944677	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	874063	27944677	105907218	2002	16301											
IPO8	10526	broad.mit.edu	37	chr12	30833414	30833414	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttttctgcaatagaaacctAcctgaacaagtgcataaaag	7	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:30833414A>G	uc001rjd.2	-	5	809	c.639_splice	c.e5+1	p.Q213_splice		NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8						intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ATAGAAACCTACCTGAACAAG	0.249													G	30833414	A	G	30833414	5	3	19	1	0	0	0	0	0	0	1	0	7798	405	14	3	2556	3	IPO8	12	30833414	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2888737	30833414	103018481	2003	16302											
BICD1	636	broad.mit.edu	37	chr12	32369202	32369202	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catttgggcagtccttctccAtccaccggaaggttgctgaa	10	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:32369202A>G	uc001rku.2	+	2	316	c.235A>G	c.(235-237)ATC>GTC	p.I79V	BICD1_uc001rkv.2_Missense_Mutation_p.I79V|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	79	Potential.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GTCCTTCTCCATCCACCGGAA	0.463													G	32369202	A	G	32369202	3	3	19	1	0	0	0	0	1	0	0	0	1428	217	8	3	241	3	BICD1	12	32369202	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1535788	32369202	101482693	2004	16303											
PKP2	5318	broad.mit.edu	37	chr12	33031026	33031026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgacagtgagccctgccGtcaggtagttctccttctcc	10	16	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:33031026G>A	uc001rlj.3	-	3	903	c.788C>T	c.(787-789)ACG>ATG	p.T263M	PKP2_uc001rlk.3_Missense_Mutation_p.T263M|PKP2_uc010skj.1_Missense_Mutation_p.T263M	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	263					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GAGCCCTGCCGTCAGGTAGTT	0.642													A	33031026	G	A	33031026	3	1	19	1	0	0	0	0	1	0	0	0	11985	1145	40	1	1905	1	PKP2	12	33031026	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	661824	33031026	100820869	2005	16304											
SYT10	341359	broad.mit.edu	37	chr12	33538209	33538209	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagggaaaacatgatttcAcccaggtctatactttccta	6	10	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:33538209A>G	uc001rll.1	-	4	1392	c.1095T>C	c.(1093-1095)GGT>GGC	p.G365G	SYT10_uc009zju.1_Silent_p.G175G	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	365	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ACATGATTTCACCCAGGTCTA	0.393													G	33538209	A	G	33538209	2	3	19	1	0	0	0	0	0	0	0	1	15463	146	6	3		3	SYT10	12	33538209	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	507183	33538209	100313686	2006	16305											
ALG10	84920	broad.mit.edu	37	chr12	34179676	34179676	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaaactgctggaatttcgTtacttcattttaccttatgt	6	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:34179676T>C	uc001rlm.2	+	3	1567	c.1248T>C	c.(1246-1248)CGT>CGC	p.R416R		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	asparagine-linked glycosylation 10 homolog	416	Extracellular (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			skin(1)	1	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TGGAATTTCGTTACTTCATTT	0.348													C	34179676	T	C	34179676	2	2	19	1	0	0	0	0	0	0	0	1	511	1712	60	3		3	ALG10	12	34179676	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	641467	34179676	99672219	2007	16306											
KIF21A	55605	broad.mit.edu	37	chr12	39734129	39734129	+	Frame_Shift_Del	DEL	T	T	-													ttttcatattcagacctaacTttttttgctttttcttctga							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:39734129delT	uc001rly.2	-	16	2294	c.2148delA	c.(2146-2148)AAAfs	p.K716fs	KIF21A_uc001rlw.2_Frame_Shift_Del_p.K33fs|KIF21A_uc001rlx.2_Frame_Shift_Del_p.K703fs|KIF21A_uc001rlz.2_Frame_Shift_Del_p.K703fs|KIF21A_uc010skl.1_Frame_Shift_Del_p.K703fs	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	716					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				CAGACCTAACTTTTTTTGCTT	0.343													-	39734129	T	-	39734129	7	5	19	1	0	1	0	1	0	0	0	0	8288	1606	56	0	2968	0	KIF21A	12	39734129	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	5554453	39734129	94117766	2008	16307											
LRRK2	120892	broad.mit.edu	37	chr12	40677751	40677751	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcgtgaacaagatgtacgAaaagcgttgacgataagcat	10	7	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:40677751A>G	uc001rmg.3	+	19	2437	c.2316A>G	c.(2314-2316)CGA>CGG	p.R772R	LRRK2_uc001rmh.1_Silent_p.R394R	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	772					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAGATGTACGAAAAGCGTTGA	0.423													G	40677751	A	G	40677751	2	3	19	1	0	0	0	0	0	0	0	1	9033	233	9	3		3	LRRK2	12	40677751	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	943622	40677751	93174144	2009	16308											
CNTN1	1272	broad.mit.edu	37	chr12	41414173	41414173	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaacagaagtaggtgtaaaAgtcttatcatcttctgagat	8	7	4	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:41414173A>C	uc001rmm.1	+	20	2567	c.2454A>C	c.(2452-2454)AAA>AAC	p.K818N	CNTN1_uc001rmn.1_Missense_Mutation_p.K807N	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	818	Fibronectin type-III 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TAGGTGTAAAAGTCTTATCAT	0.303													C	41414173	A	C	41414173	3	2	19	1	0	0	0	0	1	0	0	0	3640	69	3	5	2528	5	CNTN1	12	41414173	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	736422	41414173	92437722	2010	16309											
CNTN1	1272	broad.mit.edu	37	chr12	41414195	41414195	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttatcatcttctgagataTctgttcattgggaacatgtt	7	7	6	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:41414195T>A	uc001rmm.1	+	20	2589	c.2476T>A	c.(2476-2478)TCT>ACT	p.S826T	CNTN1_uc001rmn.1_Missense_Mutation_p.S815T	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	826	Fibronectin type-III 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTCTGAGATATCTGTTCATTG	0.289													A	41414195	T	A	41414195	3	1	19	1	0	0	0	0	1	0	0	0	3640	1435	50	5	2550	5	CNTN1	12	41414195	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	22	41414195	92437700	2011	16310											
CNTN1	1272	broad.mit.edu	37	chr12	41419019	41419019	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtcaccagccaagagtActcggccaggctcgagaacc	10	14	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:41419019A>G	uc001rmm.1	+	21	2704	c.2591A>G	c.(2590-2592)TAC>TGC	p.Y864C	CNTN1_uc001rmn.1_Missense_Mutation_p.Y853C	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	864	Fibronectin type-III 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGCCAAGAGTACTCGGCCAGG	0.488													G	41419019	A	G	41419019	3	3	19	1	0	0	0	0	1	0	0	0	3640	391	14	3	2669	3	CNTN1	12	41419019	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	4824	41419019	92432876	2012	16311											
ZCRB1	85437	broad.mit.edu	37	chr12	42707747	42707747	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttggaggctcacgttctccGagcatatttttcggacaggc	11	10	2	0	rs74439664	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:42707747G>A	uc001rmz.2	-	6	584	c.375C>T	c.(373-375)CTC>CTT	p.L125L	PPHLN1_uc001rmy.2_Intron	NM_033114	NP_149105	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	125					mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			skin(1)	1	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		CACGTTCTCCGAGCATATTTT	0.308													A	42707747	G	A	42707747	2	1	19	1	0	0	0	0	0	0	0	1	17593	1045	37	1		1	ZCRB1	12	42707747	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1288728	42707747	91144148	2013	16312											
ZCRB1	85437	broad.mit.edu	37	chr12	42711240	42711240	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgcttgcttttatcactcTaccaaataactaaacaagag	4	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:42711240T>C	uc001rmz.2	-	5	444	c.235A>G	c.(235-237)AGA>GGA	p.R79G	PPHLN1_uc001rmy.2_Intron	NM_033114	NP_149105	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	79	RRM.				mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			skin(1)	1	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TTTATCACTCTACCAAATAAC	0.313													C	42711240	T	C	42711240	3	2	19	1	0	0	0	0	1	0	0	0	17593	1530	53	3	434	3	ZCRB1	12	42711240	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	3493	42711240	91140655	2014	16313											
IRAK4	51135	broad.mit.edu	37	chr12	44171500	44171500	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagatgacctctgcttagtaTatgtttacatgcctaatggt	9	7	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:44171500T>C	uc001rnu.3	+	8	914	c.784T>C	c.(784-786)TAT>CAT	p.Y262H	IRAK4_uc001rnt.3_Missense_Mutation_p.Y262H|IRAK4_uc001rnx.3_Missense_Mutation_p.Y138H|IRAK4_uc001rny.3_Missense_Mutation_p.Y138H|IRAK4_uc010sky.1_Missense_Mutation_p.Y138H|IRAK4_uc001rnv.3_Missense_Mutation_p.Y138H|IRAK4_uc001rnw.3_Missense_Mutation_p.Y138H	NM_001114182	NP_001107654	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	262	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		CTGCTTAGTATATGTTTACAT	0.338													C	44171500	T	C	44171500	3	2	19	1	0	0	0	0	1	0	0	0	7825	1406	49	3	806	3	IRAK4	12	44171500	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1460260	44171500	89680395	2015	16314											
ANO6	196527	broad.mit.edu	37	chr12	45797269	45797269	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaactcagctgacaatAatcatgggaggaaaagcaat	9	8	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:45797269A>G	uc001roo.2	+	15	2165	c.1830A>G	c.(1828-1830)ATA>ATG	p.I610M	ANO6_uc010sld.1_Missense_Mutation_p.I610M|ANO6_uc010sle.1_Missense_Mutation_p.I610M|ANO6_uc010slf.1_Missense_Mutation_p.I631M|ANO6_uc010slg.1_Missense_Mutation_p.I592M	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	610	Extracellular (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						AGCTGACAATAATCATGGGAG	0.368													G	45797269	A	G	45797269	3	3	19	1	0	0	0	0	1	0	0	0	701	352	13	3	1908	3	ANO6	12	45797269	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1625769	45797269	88054626	2016	16315											
ANO6	196527	broad.mit.edu	37	chr12	45814903	45814903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcccccgcctagtgtactActggtccttctccgtccctc	7	18	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:45814903A>G	uc001roo.2	+	18	2602	c.2267A>G	c.(2266-2268)TAC>TGC	p.Y756C	ANO6_uc010sld.1_Missense_Mutation_p.Y756C|ANO6_uc010sle.1_Missense_Mutation_p.Y756C|ANO6_uc010slf.1_Missense_Mutation_p.Y777C|ANO6_uc010slg.1_Missense_Mutation_p.Y738C	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	756	Extracellular (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						CTAGTGTACTACTGGTCCTTC	0.448													G	45814903	A	G	45814903	3	3	19	1	0	0	0	0	1	0	0	0	701	391	14	3	2357	3	ANO6	12	45814903	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	17634	45814903	88036992	2017	16316											
SLC38A4	55089	broad.mit.edu	37	chr12	47163208	47163208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtgtgatcactgatgtacGaatcttaaacaagaaagttc	8	7	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:47163208G>A	uc001rpi.2	-	15	1702	c.1303C>T	c.(1303-1305)CGT>TGT	p.R435C	SLC38A4_uc001rpj.2_Missense_Mutation_p.R435C	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	435	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Lung SC(27;0.192)|Renal(347;0.236)					ACTGATGTACGAATCTTAAAC	0.348													A	47163208	G	A	47163208	3	1	19	1	0	0	0	0	1	0	0	0	14606	1058	37	1	352	1	SLC38A4	12	47163208	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1348305	47163208	86688687	2018	16317											
FAM113B	91523	broad.mit.edu	37	chr12	47628998	47628998	+	Frame_Shift_Del	DEL	G	G	-													tcccgggcagcttagagcaaGgggggagctgaacttcgaac							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:47628998delG	uc001rpn.2	+	4	883	c.152delG	c.(151-153)AGGfs	p.R51fs	FAM113B_uc010slj.1_Intron|FAM113B_uc001rpq.2_Frame_Shift_Del_p.R51fs	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	51							hydrolase activity	p.R51R(1)		skin(3)|ovary(2)	5	Renal(347;0.138)|Lung SC(27;0.192)					CTTAGAGCAAGGGGGGAGCTG	0.612													-	47628998	G	-	47628998	7	5	19	1	0	1	0	1	0	0	0	0	5402	1000	35	0	154	0	FAM113B	12	47628998	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	465790	47628998	86222897	2019	16318											
RPAP3	79657	broad.mit.edu	37	chr12	48084302	48084302	+	Splice_Site	DEL	T	T	-													gagagtgactagaaaataccTtttttggcctcttctaattt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:48084301_48084301CT>C	uc001rpr.3	-	6	783	c.667_splice	c.e6+1	p.D223_splice	RPAP3_uc010slk.2_Splice_Site_p.D64_splice|RPAP3_uc001rps.3_Splice_Site_p.D223_splice	NM_024604	NP_001139548	Q9H6T3	RPAP3_HUMAN	Homo sapiens RNA polymerase II associated protein 3 (RPAP3), transcript variant 1, mRNA.	223							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TAGAAAATACCTTTTTTGGCC	0.363													-	48084302	T	-	48084302	8	5	19	1	0	1	0	1	0	0	1	0	13543	1623	56	0	1379	0	RPAP3	12	48084302	Splice_Site	DEL	T	TCGA-BR-4361-01A-01D-1158-08	455304	48084302	85767593	2020	16319											
HDAC7	51564	broad.mit.edu	37	chr12	48183605	48183605	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacctcctacctttagctcAcgagaagccactttgaaggc	7	13	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:48183605A>G	uc010slo.1	-	17	2277	c.2082T>C	c.(2080-2082)CGT>CGC	p.R694R	HDAC7_uc009zku.2_RNA|HDAC7_uc001rqe.2_Silent_p.R128R|HDAC7_uc001rqj.3_Silent_p.R657R|HDAC7_uc001rqk.3_Silent_p.R677R|HDAC7_uc010slp.1_5'Flank	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7 isoform a	655	Histone deacetylase.				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		CCTTTAGCTCACGAGAAGCCA	0.572													G	48183605	A	G	48183605	2	3	19	1	0	0	0	0	0	0	0	1	7012	146	6	3		3	HDAC7	12	48183605	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	99303	48183605	85668290	2021	16320											
VDR	7421	broad.mit.edu	37	chr12	48251368	48251368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcaatgatgcgctgctgCtcctcagacagcttgggccg	13	12	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:48251368C>T	uc001rqm.2	-	6	663	c.381G>A	c.(379-381)GAG>GAA	p.E127E	VDR_uc001rql.2_Silent_p.E177E|VDR_uc001rqn.2_Silent_p.E127E|VDR_uc010slq.1_Silent_p.E95E	NM_001017535	NP_001017535	P11473	VDR_HUMAN	vitamin D (1,25-dihydroxyvitamin D3) receptor	127	Hinge.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TGCGCTGCTGCTCCTCAGACA	0.582													T	48251368	C	T	48251368	2	4	19	1	0	0	0	0	0	0	0	1	17146	796	28	2		2	VDR	12	48251368	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	67763	48251368	85600527	2022	16321											
RND1	27289	broad.mit.edu	37	chr12	49259529	49259530	+	Frame_Shift_Ins	INS	-	-	G													catctggccacgactggctgINSgggggcccgtctctccttca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:49259528_49259529T>TG	uc001rsn.3	-	0	125_126	c.22_23A>CA	c.(22-24)cagfs	p.Q8fs		NM_014470	NP_055285	Q92730	RND1_HUMAN	Homo sapiens Rho family GTPase 1 (RND1), mRNA.	8					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						CACGACTGGCTGGGGGGCCCGT	0.589													G	49259530	-	G	49259529	7	5	19	1	0	1	1	0	0	0	0	0	13419	1357	47	0	696	0	RND1	12	49259529	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	1008161	49259529	84592366	2023	16322											
MLL2	8085	broad.mit.edu	37	chr12	49425292	49425292	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtccattcacctggtccAgatgcccaggtaccaggctg	10	15	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:49425292A>G	uc001rta.3	-	39	13196	c.13196T>C	c.(13195-13197)CTG>CCG	p.L4399P		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4399					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CACCTGGTCCAGATGCCCAGG	0.582			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			G	49425292	A	G	49425292	3	3	19	1	0	0	0	0	1	0	0	0	9621	188	7	3	3481	3	MLL2	12	49425292	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	165763	49425292	84426603	2024	16323											
MLL2	8085	broad.mit.edu	37	chr12	49435307	49435307	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtctgcttgttgatctgGctctcagcctgctacagggg	13	10	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:49435307G>A	uc001rta.3	-	31	6246	c.6246C>T	c.(6244-6246)AGC>AGT	p.S2082S		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2082					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TGTTGATCTGGCTCTCAGCCT	0.652			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49435307	G	A	49435307	2	1	19	1	0	0	0	0	0	0	0	1	9621	1194	42	2		2	MLL2	12	49435307	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	10015	49435307	84416588	2025	16324											
MLL2	8085	broad.mit.edu	37	chr12	49440135	49440136	+	Frame_Shift_Del	DEL	GT	GT	-													aggctggcacagggcccacaGtgtgtgtaactattctgcca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:49440134_49440135AGT>A	uc001rta.4	-	15	4491_4492	c.4491_4492ACT>T	c.(4489-4494)cactgtfs	p.H1497fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1497	Cys-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CAGGGCCCACAGTGTGTGTAAC	0.535			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	49440136	GT	-	49440135	7	5	19	1	0	1	0	1	0	0	0	0	9621	1020	36	0	12278	0	MLL2	12	49440135	Frame_Shift_Del	DEL	GT	TCGA-BR-4361-01A-01D-1158-08	4828	49440135	84411760	2026	16325											
DHH	50846	broad.mit.edu	37	chr12	49484937	49484937	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgacacgtggacgtggTtgcgggactcgtagtagacc	15	10	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:49484937T>C	uc001rtf.2	-	2	846	c.539A>G	c.(538-540)AAC>AGC	p.N180S		NM_021044	NP_066382	O43323	DHH_HUMAN	desert hedgehog preproprotein	180					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			lung(1)|breast(1)	2						GTGGACGTGGTTGCGGGACTC	0.592													C	49484937	T	C	49484937	3	2	19	1	0	0	0	0	1	0	0	0	4483	1725	60	3	659	3	DHH	12	49484937	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	44802	49484937	84366958	2027	16326											
TROAP	10024	broad.mit.edu	37	chr12	49719633	49719633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagggaccaggacctcgagGccggacattgtgcccccaga	15	13	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:49719633G>A	uc001rtx.3	+	5	766	c.599G>A	c.(598-600)GGC>GAC	p.G200D	TROAP_uc009zlh.2_Missense_Mutation_p.G200D|TROAP_uc001rty.2_5'Flank	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	200					cell adhesion	cytoplasm				ovary(1)	1						GGACCTCGAGGCCGGACATTG	0.637													A	49719633	G	A	49719633	3	1	19	1	0	0	0	0	1	0	0	0	16572	1203	42	2	715	2	TROAP	12	49719633	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	234696	49719633	84132262	2028	16327											
KCNH3	23416	broad.mit.edu	37	chr12	49934785	49934785	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcttctcccgggctgaggtCatgcagcggggctgtgcctg	17	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:49934785C>T	uc001ruh.1	+	2	440	c.180C>T	c.(178-180)GTC>GTT	p.V60V	KCNH3_uc010smj.1_5'UTR	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	60	Cytoplasmic (Potential).|PAS.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						GGGCTGAGGTCATGCAGCGGG	0.627													T	49934785	C	T	49934785	2	4	19	1	0	0	0	0	0	0	0	1	8033	813	29	4		4	KCNH3	12	49934785	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	215152	49934785	83917110	2029	16328											
AQP2	359	broad.mit.edu	37	chr12	50348487	50348487	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcactggcaaatttgatgaCcactgggtaatggctgaaac	11	8	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:50348487C>T	uc001rvn.2	+	3	690	c.600C>T	c.(598-600)GAC>GAT	p.D200D	AQP2_uc009zll.1_5'Flank	NM_000486	NP_000477	P41181	AQP2_HUMAN	aquaporin 2	200	Extracellular (Potential).				cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			ovary(2)	2						AATTTGATGACCACTGGGTAA	0.552													T	50348487	C	T	50348487	2	4	19	1	0	0	0	0	0	0	0	1	826	506	18	4		4	AQP2	12	50348487	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	413702	50348487	83503408	2030	16329											
RACGAP1	29127	broad.mit.edu	37	chr12	50387958	50387958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaggcgaaaggtcagaagaGgttctttgaggtttcgaaga	14	4	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:50387958G>A	uc001rvt.2	-	14	1605	c.1295C>T	c.(1294-1296)CCT>CTT	p.P432L	RACGAP1_uc009zlm.1_Missense_Mutation_p.P432L|RACGAP1_uc001rvs.2_Missense_Mutation_p.P432L|RACGAP1_uc001rvu.2_Missense_Mutation_p.P432L	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	432	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			kidney(1)	1						GGTCAGAAGAGGTTCTTTGAG	0.348													A	50387958	G	A	50387958	3	1	19	1	0	0	0	0	1	0	0	0	12977	1000	35	4	627	4	RACGAP1	12	50387958	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	39471	50387958	83463937	2031	16330											
LARP4	113251	broad.mit.edu	37	chr12	50869432	50869432	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaccaaaaatgaagacAatggagctcctgagaactcc	7	13	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:50869432A>T	uc001rwp.1	+	16	2104	c.1960A>T	c.(1960-1962)AAT>TAT	p.N654Y	LARP4_uc001rwo.1_Missense_Mutation_p.N660Y|LARP4_uc001rwq.1_Missense_Mutation_p.N583Y|LARP4_uc001rwr.1_Missense_Mutation_p.N583Y|LARP4_uc001rws.1_Missense_Mutation_p.N653Y|LARP4_uc009zlr.1_Missense_Mutation_p.N453Y|LARP4_uc001rwt.1_Missense_Mutation_p.N245Y	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	c-Mpl binding protein isoform a	654							nucleotide binding|RNA binding			ovary(1)	1						AAATGAAGACAATGGAGCTCC	0.502													T	50869432	A	T	50869432	3	4	19	1	0	0	0	0	1	0	0	0	8630	130	5	5	2026	5	LARP4	12	50869432	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	481474	50869432	82982463	2032	16331											
TMPRSS12	283471	broad.mit.edu	37	chr12	51279163	51279163	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaagatggagcttttgatActtgcagggtaagaccaagt	12	5	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:51279163A>G	uc001rwx.3	+	4	834	c.787A>G	c.(787-789)ACT>GCT	p.T263A	TMPRSS12_uc001rwy.2_Missense_Mutation_p.T263A	NM_182559	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane protease, serine 12 precursor	263	Peptidase S1.|Extracellular (Potential).				proteolysis	integral to membrane	serine-type endopeptidase activity				0						AGCTTTTGATACTTGCAGGGT	0.373													G	51279163	A	G	51279163	3	3	19	1	0	0	0	0	1	0	0	0	16241	391	14	3	801	3	TMPRSS12	12	51279163	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	409731	51279163	82572732	2033	16332											
TFCP2	7024	broad.mit.edu	37	chr12	51497499	51497499	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtagaaaaacgatttcgAtgcaaccactgctgagcttc	8	9	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:51497499A>G	uc001rxw.2	-	10	1473	c.1014T>C	c.(1012-1014)CAT>CAC	p.H338H	TFCP2_uc001rxv.1_Silent_p.H338H|TFCP2_uc009zlx.1_Silent_p.H287H|TFCP2_uc001rxx.2_Intron|TFCP2_uc009zly.1_Silent_p.H240H	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	transcription factor CP2	338	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AACGATTTCGATGCAACCACT	0.383													G	51497499	A	G	51497499	2	3	19	1	0	0	0	0	0	0	0	1	15792	330	12	3		3	TFCP2	12	51497499	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	218336	51497499	82354396	2034	16333											
ACVRL1	94	broad.mit.edu	37	chr12	52309152	52309152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgaggctagctgtgtccGcggcatgcggcctggcgcac	15	14	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:52309152G>A	uc001rzj.2	+	7	1199	c.916G>A	c.(916-918)GCG>ACG	p.A306T	ACVRL1_uc001rzk.2_Missense_Mutation_p.A306T|ACVRL1_uc010snm.1_Missense_Mutation_p.A132T	NM_000020	NP_000011	P37023	ACVL1_HUMAN	activin A receptor type II-like 1 precursor	306	Cytoplasmic (Potential).|Protein kinase.		A -> P (in HHT2).		blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	AGCTGTGTCCGCGGCATGCGG	0.617									Hereditary_Hemorrhagic_Telangiectasia				A	52309152	G	A	52309152	3	1	19	1	0	0	0	0	1	0	0	0	225	1087	38	1	938	1	ACVRL1	12	52309152	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	811653	52309152	81542743	2035	16334											
ACVRL1	94	broad.mit.edu	37	chr12	52312813	52312813	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttctatgatgtggtgcccAatgaccccagctttgaggac	10	12	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:52312813A>G	uc001rzj.2	+	9	1574	c.1291A>G	c.(1291-1293)AAT>GAT	p.N431D	ACVRL1_uc001rzk.2_Missense_Mutation_p.N431D|ACVRL1_uc010snm.1_Missense_Mutation_p.N257D	NM_000020	NP_000011	P37023	ACVL1_HUMAN	activin A receptor type II-like 1 precursor	431	Cytoplasmic (Potential).|Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	p.N431fs*8(1)		lung(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TGTGGTGCCCAATGACCCCAG	0.557									Hereditary_Hemorrhagic_Telangiectasia				G	52312813	A	G	52312813	3	3	19	1	0	0	0	0	1	0	0	0	225	130	5	3	1321	3	ACVRL1	12	52312813	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3661	52312813	81539082	2036	16335											
KRT6A	3853	broad.mit.edu	37	chr12	52885376	52885376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcggccccgttccccgaCaatgctgtccagctgcctcc	10	19	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:52885376C>T	uc001sam.2	-	2	894	c.685G>A	c.(685-687)GTC>ATC	p.V229I		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	229	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGTTCCCCGACAATGCTGTCC	0.567													T	52885376	C	T	52885376	3	4	19	1	0	0	0	0	1	0	0	0	8480	478	17	4	1041	4	KRT6A	12	52885376	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	572563	52885376	80966519	2037	16336											
KRT2	3849	broad.mit.edu	37	chr12	53044122	53044124	+	Splice_Site	DEL	CTT	CTT	-													gcgtttcactctgccacctaCttcttcttataatcctccac					rs140362470		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:53044122_53044124delCTT	uc001sat.2	-	2	833	c.800_splice	c.e2+1	p.K267_splice		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2						keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTGCCACCTACTTCTTCTTATAA	0.458													-	53044124	CTT	-	53044122	8	5	19	1	0	1	0	1	0	0	1	0	8457	579	20	0	1150	0	KRT2	12	53044122	Splice_Site	DEL	CTT	TCGA-BR-4361-01A-01D-1158-08	158746	53044122	80807773	2038	16337											
SPRYD3	84926	broad.mit.edu	37	chr12	53460136	53460137	+	Frame_Shift_Ins	INS	-	-	C													tgctccggctctatctcttcINScccatcctcttcctcttcct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:53460135_53460136T>TC	uc001sbt.2	-	9	1243_1244	c.1156_1157A>GA	c.(1156-1158)gaafs	p.E386fs		NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	Homo sapiens SPRY domain containing 3 (SPRYD3), mRNA.	386	Glu-rich.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CTCTATctcttccccatcctct	0.584											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	53460137	-	C	53460136	7	5	19	1	0	1	1	0	0	0	0	0	15108	864	30	0	180	0	SPRYD3	12	53460136	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	416014	53460136	80391759	2039	16338											
MFSD5	84975	broad.mit.edu	37	chr12	53647543	53647543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacctccaagaggtaccaCcttcagcccatgcacctgct	7	18	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:53647543C>T	uc001sci.1	+	2	1115	c.924C>T	c.(922-924)CAC>CAT	p.H308H	MFSD5_uc001sch.1_Silent_p.H415H	NM_032889	NP_116278	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing	308					transport	integral to membrane				skin(2)|ovary(1)	3						AGAGGTACCACCTTCAGCCCA	0.587													T	53647543	C	T	53647543	2	4	19	1	0	0	0	0	0	0	0	1	9534	506	18	4		4	MFSD5	12	53647543	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	187407	53647543	80204352	2040	16339											
AAAS	8086	broad.mit.edu	37	chr12	53701632	53701632	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcctggcgcactcaccacActgagcagggcccctttgtt	10	16	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:53701632A>G	uc001scr.3	-	15	1576	c.1413T>C	c.(1411-1413)AGT>AGC	p.S471S	AAAS_uc001scs.3_Silent_p.S438S	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency,	471					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				ovary(1)	1						CACTCACCACACTGAGCAGGG	0.597													G	53701632	A	G	53701632	2	3	19	1	0	0	0	0	0	0	0	1	8	156	6	3		3	AAAS	12	53701632	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	54089	53701632	80150263	2041	16340											
SP1	6667	broad.mit.edu	37	chr12	53776296	53776296	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgggcaacagctgcagTttgctgccactggggcccaa	13	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:53776296T>C	uc001scw.2	+	3	662	c.565T>C	c.(565-567)TTT>CTT	p.F189L	SP1_uc010sog.1_Missense_Mutation_p.F182L	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	189	Transactivation domain A (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ACAGCTGCAGTTTGCTGCCAC	0.488													C	53776296	T	C	53776296	3	2	19	1	0	0	0	0	1	0	0	0	14959	1725	60	3	575	3	SP1	12	53776296	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	74664	53776296	80075599	2042	16341											
CALCOCO1	57658	broad.mit.edu	37	chr12	54115379	54115379	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctctcttctgtgatctcCccatgggaccgggaaatccc	8	16	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:54115379C>T	uc001sef.2	-	6	774	c.630G>A	c.(628-630)GGG>GGA	p.G210G	CALCOCO1_uc010som.1_Silent_p.G177G|CALCOCO1_uc010son.1_Silent_p.G87G|CALCOCO1_uc001seh.2_Silent_p.G210G|CALCOCO1_uc009znd.2_Silent_p.G210G|CALCOCO1_uc001seg.2_Silent_p.G87G|CALCOCO1_uc010soo.1_Silent_p.G203G	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	coiled-coil transcriptional coactivator isoform	210					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			ovary(1)	1						CTGTGATCTCCCCATGGGACC	0.527													T	54115379	C	T	54115379	2	4	19	1	0	0	0	0	0	0	0	1	2577	610	22	4		4	CALCOCO1	12	54115379	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	339083	54115379	79736516	2043	16342											
NEUROD4	58158	broad.mit.edu	37	chr12	55421128	55421128	+	Frame_Shift_Del	DEL	C	C	-													aactccttttcaggctggtaCcccccgttatgatgttccta							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:55421127_55421127AC>A	uc001sgp.4	+	1	1282	c.904_904AC>A	c.(904-906)accfs	p.T302fs	NEUROD4_uc021qyr.1_Frame_Shift_Del_p.T302fs	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	302					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTA	0.468													-	55421128	C	-	55421128	7	5	19	1	0	1	0	1	0	0	0	0	10350	507	18	0	907	0	NEUROD4	12	55421128	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	1305749	55421128	78430767	2044	16343											
ITGA7	3679	broad.mit.edu	37	chr12	56086971	56086971	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcaaagccctttctgcccaGgcccctgcccgccctccagc	8	21	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:56086971G>T	uc001shh.2	-	20	2898	c.2678C>A	c.(2677-2679)CCT>CAT	p.P893H	ITGA7_uc001shg.2_Missense_Mutation_p.P889H|ITGA7_uc010sps.1_Missense_Mutation_p.P796H|ITGA7_uc009znw.2_Missense_Mutation_p.P136H|ITGA7_uc009znx.2_Missense_Mutation_p.P770H	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	933	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						TTTCTGCCCAGGCCCCTGCCC	0.592													T	56086971	G	T	56086971	3	4	19	1	0	0	0	0	1	0	0	0	7881	1000	35	5	771	5	ITGA7	12	56086971	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	665843	56086971	77764924	2045	16344											
DNAJC14	85406	broad.mit.edu	37	chr12	56221646	56221646	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagatggccacaagtttctAcgtactctcccaccaatacc	6	14	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:56221646A>G	uc001shx.1	-	2	1001	c.797T>C	c.(796-798)GTA>GCA	p.V266A	DNAJC14_uc001shu.1_Missense_Mutation_p.V266A|DNAJC14_uc009zob.1_Missense_Mutation_p.V266A|DNAJC14_uc001shy.1_Missense_Mutation_p.V266A	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	266	Helical; (Potential).				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						ACAAGTTTCTACGTACTCTCC	0.522													G	56221646	A	G	56221646	3	3	19	1	0	0	0	0	1	0	0	0	4633	391	14	3	1335	3	DNAJC14	12	56221646	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	134675	56221646	77630249	2046	16345											
ERBB3	2065	broad.mit.edu	37	chr12	56487146	56487146	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccggggcttctcattgtTgatcatgaagaacttgaatg	11	8	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:56487146T>C	uc001sjh.2	+	12	1485	c.1292T>C	c.(1291-1293)TTG>TCG	p.L431S	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.L372S|ERBB3_uc009zok.2_5'Flank|ERBB3_uc001sjk.2_5'Flank|ERBB3_uc001sjj.1_5'UTR	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	431	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TTCTCATTGTTGATCATGAAG	0.428													C	56487146	T	C	56487146	3	2	19	1	0	0	0	0	1	0	0	0	5208	1821	63	3	1469	3	ERBB3	12	56487146	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	265500	56487146	77364749	2047	16346											
ZC3H10	84872	broad.mit.edu	37	chr12	56515288	56515288	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcattgcccagactcacacTactctcagcagccaggctct	8	16	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:56515288T>C	uc001sjp.1	+	3	1131	c.942T>C	c.(940-942)ACT>ACC	p.T314T		NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	314							nucleic acid binding|zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.12)			AGACTCACACTACTCTCAGCA	0.592													C	56515288	T	C	56515288	2	2	19	1	0	0	0	0	0	0	0	1	17556	1509	53	3		3	ZC3H10	12	56515288	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	28142	56515288	77336607	2048	16347											
SLC39A5	283375	broad.mit.edu	37	chr12	56630390	56630392	+	In_Frame_Del	DEL	AGA	AGA	-													aggggctcagggccagagggAgaagaacagccagcacccac							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:56630389_56630391GAGA>G	uc010sqj.2	+	9	1323_1325	c.1066_1068GAGA>G	c.(1066-1068)gag>G	p.E356del	SLC39A5_uc010sqk.2_In_Frame_Del_p.E356del	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	356					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGCCAGAGGGAGAAGAACAGCC	0.591													-	56630392	AGA	-	56630390	7	5	19	1	0	1	0	1	0	0	0	0	14621	304	11	0	1093	0	SLC39A5	12	56630390	In_Frame_Del	DEL	AGA	TCGA-BR-4361-01A-01D-1158-08	115102	56630390	77221505	2049	16348											
ANKRD52	283373	broad.mit.edu	37	chr12	56638574	56638574	+	Frame_Shift_Del	DEL	G	G	-													cgcgaaggcagcggcgtgaaGgggggtcctgtaaggcaggg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:56638573_56638573AG>A	uc001skm.4	-	23	2675	c.2585_2585CT>T	c.(2584-2586)cttfs	p.L862fs		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	862							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGCGGCGTGAAGGGGGGTCCT	0.577													-	56638574	G	-	56638574	7	5	19	1	0	1	0	1	0	0	0	0	678	1000	35	0	666	0	ANKRD52	12	56638574	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	8184	56638574	77213321	2050	16349											
APOF	319	broad.mit.edu	37	chr12	56755285	56755285	+	Frame_Shift_Del	DEL	C	C	-													ctgatcgctagacccataggCccccctgacatcccagccat							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:56755285delC	uc001sle.1	-	2	759	c.705delG	c.(703-705)GGGfs	p.G235fs		NM_001638	NP_001629	Q13790	APOF_HUMAN	apolipoprotein F precursor	235					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding				0						GACCCATAGGCCCCCCTGACA	0.522													-	56755285	C	-	56755285	7	5	19	1	0	1	0	1	0	0	0	0	803	726	26	0	279	0	APOF	12	56755285	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	116711	56755285	77096610	2051	16350											
TIMELESS	8914	broad.mit.edu	37	chr12	56817439	56817439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaactcctcctcttcctcCtcctcctcctcttcttcttc	1	21	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:56817439C>T	uc001slf.2	-	17	2187	c.2019G>A	c.(2017-2019)GAG>GAA	p.E673E		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	673	Glu-rich.				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						cctcttcctcctcctcctcct	0.423													T	56817439	C	T	56817439	2	4	19	1	0	0	0	0	0	0	0	1	15901	680	24	4		4	TIMELESS	12	56817439	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	62154	56817439	77034456	2052	16351											
SDR9C7	121214	broad.mit.edu	37	chr12	57317808	57317808	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactctgggctctgccacctGcattatgttttttaacttgt	8	10	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:57317808G>A	uc010sqw.1	-	4	751	c.751C>T	c.(751-753)CAG>TAG	p.Q251*		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C,	251						cytoplasm	binding|oxidoreductase activity			central_nervous_system(1)	1						TCTGCCACCTGCATTATGTTT	0.478													A	57317808	G	A	57317808	4	1	19	1	0	0	0	0	0	1	0	0	13974	1328	46	2	194	2	SDR9C7	12	57317808	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	500369	57317808	76534087	2053	16352											
MYO1A	4640	broad.mit.edu	37	chr12	57423603	57423603	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcctttcagcttctgcAgcttggggttcccttgcagc	10	16	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:57423603A>G	uc001smw.3	-	25	2888	c.2645T>C	c.(2644-2646)CTG>CCG	p.L882P	MYO1A_uc010sqz.1_Missense_Mutation_p.L720P|MYO1A_uc009zpd.2_Missense_Mutation_p.L882P	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	myosin IA	882					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|urinary_tract(1)	7						CAGCTTCTGCAGCTTGGGGTT	0.592													G	57423603	A	G	57423603	3	3	19	1	0	0	0	0	1	0	0	0	10068	188	7	3	502	3	MYO1A	12	57423603	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	105795	57423603	76428292	2054	16353											
LRP1	4035	broad.mit.edu	37	chr12	57571369	57571369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcgcatcctttggattgaCgccaggtcagcaccctctgt	10	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:57571369C>T	uc001snd.2	+	26	4822	c.4356C>T	c.(4354-4356)GAC>GAT	p.D1452D		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1452	Extracellular (Potential).|LDL-receptor class B 11.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.D1452D(1)		ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTTGGATTGACGCCAGGTCAG	0.657													T	57571369	C	T	57571369	2	4	19	1	0	0	0	0	0	0	0	1	8951	535	19	1		1	LRP1	12	57571369	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	147766	57571369	76280526	2055	16354											
LRP1	4035	broad.mit.edu	37	chr12	57573602	57573602	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggctggctgtggactgggtCtcccgaaacctgttctggac	15	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:57573602C>T	uc001snd.2	+	30	5470	c.5004C>T	c.(5002-5004)GTC>GTT	p.V1668V		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1668	LDL-receptor class B 13.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGGACTGGGTCTCCCGAAACC	0.592													T	57573602	C	T	57573602	2	4	19	1	0	0	0	0	0	0	0	1	8951	900	32	4		4	LRP1	12	57573602	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2233	57573602	76278293	2056	16355											
LRP1	4035	broad.mit.edu	37	chr12	57592013	57592013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcaacctgtactggtgCgacaaaggccgggacaccat	14	11	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:57592013C>T	uc001snd.2	+	59	9823	c.9357C>T	c.(9355-9357)TGC>TGT	p.C3119C		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3119	LDL-receptor class B 27.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTACTGGTGCGACAAAGGCC	0.652													T	57592013	C	T	57592013	2	4	19	1	0	0	0	0	0	0	0	1	8951	776	27	1		1	LRP1	12	57592013	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	18411	57592013	76259882	2057	16356											
LRP1	4035	broad.mit.edu	37	chr12	57592261	57592261	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgccaggtacctgtactggAcagactggggtgaccattca	12	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:57592261A>G	uc001snd.2	+	60	9950	c.9484A>G	c.(9484-9486)ACA>GCA	p.T3162A		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3162	LDL-receptor class B 28.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTGTACTGGACAGACTGGGG	0.617													G	57592261	A	G	57592261	3	3	19	1	0	0	0	0	1	0	0	0	8951	275	10	3	9722	3	LRP1	12	57592261	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	248	57592261	76259634	2058	16357											
MBD6	114785	broad.mit.edu	37	chr12	57919175	57919175	+	Frame_Shift_Del	DEL	C	C	-													tccacactgtgtccccagggCccccctctgcccgccctccc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:57919175delC	uc001soj.1	+	6	648	c.424delC	c.(424-426)CCCfs	p.P142fs	MBD6_uc001sok.1_Frame_Shift_Del_p.P9fs|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	142	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						GTCCCCAGGGCCCCCCTCTGC	0.577													-	57919175	C	-	57919175	7	5	19	1	0	1	0	1	0	0	0	0	9348	739	26	0	438	0	MBD6	12	57919175	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	326914	57919175	75932720	2059	16358											
KIF5A	3798	broad.mit.edu	37	chr12	57957311	57957311	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccatgcagattgtcaaaggTaatagatttctttttagaat	8	5	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:57957311T>C	uc001sor.1	+	2	425	c.217_splice	c.e2+2	p.D73_splice	KIF5A_uc010srr.1_Intron	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A						blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3						TTGTCAAAGGTAATAGATTTC	0.438													C	57957311	T	C	57957311	5	2	19	1	0	0	0	0	0	0	1	0	8305	1652	57	3	225	3	KIF5A	12	57957311	Splice_Site	SNP	T	TCGA-BR-4361-01A-01D-1158-08	38136	57957311	75894584	2060	16359											
PPM1H	57460	broad.mit.edu	37	chr12	63195674	63195674	+	Frame_Shift_Del	DEL	G	G	-													ttctcggtaaagaagcgtgtGgggggcgtgctgggggagcc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:63195673_63195673TG>T	uc001srk.3	-	2	828	c.679_679CA>A	c.(679-681)acafs	p.T227fs		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA.	227	PP2C-like.						phosphoprotein phosphatase activity	p.T227fs*12(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		AAGAAGCGTGTGGGGGGCGTG	0.642													-	63195674	G	-	63195674	7	5	19	1	0	1	0	1	0	0	0	0	12341	1335	47	0	898	0	PPM1H	12	63195674	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	5238363	63195674	70656221	2061	16360											
PPM1H	57460	broad.mit.edu	37	chr12	63195910	63195910	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtgcccgtcaaacagcgAccaatagtggcaggaaacac	11	13	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:63195910A>G	uc001srk.3	-	3	591	c.442T>C	c.(442-444)TCG>CCG	p.S148P		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	protein phosphatase 1H (PP2C domain containing)	148	PP2C-like.						phosphoprotein phosphatase activity			lung(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TCAAACAGCGACCAATAGTGG	0.622													G	63195910	A	G	63195910	3	3	19	1	0	0	0	0	1	0	0	0	12341	275	10	3	1134	3	PPM1H	12	63195910	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	236	63195910	70655985	2062	16361											
SRGAP1	57522	broad.mit.edu	37	chr12	64505760	64505760	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgtatggctggagatgActattggtaagtctaagaat	12	3	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:64505760A>G	uc010ssp.1	+	17	2194	c.2138A>G	c.(2137-2139)GAC>GGC	p.D713G	SRGAP1_uc001srv.2_Missense_Mutation_p.D650G	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	713					axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GCTGGAGATGACTATTGGTAA	0.378													G	64505760	A	G	64505760	3	3	19	1	0	0	0	0	1	0	0	0	15144	275	10	3	2204	3	SRGAP1	12	64505760	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1309850	64505760	69346135	2063	16362											
IRAK3	11213	broad.mit.edu	37	chr12	66641827	66641827	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccatcccaggacttaaggcCctataaggtaaatatagatc	7	10	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:66641827C>A	uc001sth.2	+	12	1769	c.1667C>A	c.(1666-1668)CCC>CAC	p.P556H	IRAK3_uc010ssy.1_Missense_Mutation_p.P495H	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	556					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8				GBM - Glioblastoma multiforme(28;0.0203)		GACTTAAGGCCCTATAAGGTA	0.463													A	66641827	C	A	66641827	3	1	19	1	0	0	0	0	1	0	0	0	7824	623	22	5	1713	5	IRAK3	12	66641827	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2136067	66641827	67210068	2064	16363											
HELB	92797	broad.mit.edu	37	chr12	66703603	66703603	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatgcattaataatgtatTccagactgaagcagatatgt	8	5	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:66703603T>C	uc001sti.2	+	4	923	c.895T>C	c.(895-897)TCC>CCC	p.S299P	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	299					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AATAATGTATTCCAGACTGAA	0.393													C	66703603	T	C	66703603	3	2	19	1	0	0	0	0	1	0	0	0	7045	1783	62	3	909	3	HELB	12	66703603	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	61776	66703603	67148292	2065	16364											
HELB	92797	broad.mit.edu	37	chr12	66731962	66731962	+	RNA	DEL	A	A	-													taacgtcaaagtaccaagatAaaaaaagtttcctataactg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:66731962delA	uc010ssz.1	+	13		c.3448delA			HELB_uc009zqt.1_RNA			Q8NG08	HELB_HUMAN	Homo sapiens helicase B mRNA, complete cds.						DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GTACCAAGATAAAAAAAGTTT	0.294													-	66731962	A	-	66731962	6	5	19	0	1	1	0	1	0	0	0	0	7045	377	13	0		0	HELB	12	66731962	RNA	DEL	A	TCGA-BR-4361-01A-01D-1158-08	28359	66731962	67119933	2066	16365											
GRIP1	23426	broad.mit.edu	37	chr12	66849209	66849209	+	Frame_Shift_Del	DEL	T	T	-													atgagcttttgaagtctttcTttttcagtctcctcctcatc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:66849208_66849208CT>C	uc001stk.3	-	9	1420	c.1179_1179AG>G	c.(1177-1179)aagfs	p.K393fs	GRIP1_uc010sta.1_Frame_Shift_Del_p.K337fs|GRIP1_uc001stj.3_Frame_Shift_Del_p.K175fs|GRIP1_uc001stm.3_Frame_Shift_Del_p.K393fs|GRIP1_uc001stl.1_Intron	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	445					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TGAAGTCTTTCTTTTTCAGTC	0.483													-	66849209	T	-	66849209	7	5	19	1	0	1	0	1	0	0	0	0	6787	1609	56	0	2112	0	GRIP1	12	66849209	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	117247	66849209	67002686	2067	16366											
IFNG	3458	broad.mit.edu	37	chr12	68552014	68552014	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctaagaaaagagttccattaTccgctacatctgaatgacct	6	10	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:68552014T>A	uc001stw.1	-	2	266	c.140A>T	c.(139-141)GAT>GTT	p.D47V		NM_000619	NP_000610	P01579	IFNG_HUMAN	interferon, gamma precursor	47					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding				0			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	AGTTCCATTATCCGCTACATC	0.308													A	68552014	T	A	68552014	3	1	19	1	0	0	0	0	1	0	0	0	7548	1435	50	5	372	5	IFNG	12	68552014	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1702805	68552014	65299881	2068	16367											
NUP107	57122	broad.mit.edu	37	chr12	69135681	69135681	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgttttctgcttcatacgaTattgcacagtactggtcagt	9	8	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:69135681T>C	uc001suf.2	+	27	2706	c.2591T>C	c.(2590-2592)ATA>ACA	p.I864T	NUP107_uc001sug.2_Missense_Mutation_p.I623T|NUP107_uc010stj.1_Missense_Mutation_p.I835T	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	864					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CTTCATACGATATTGCACAGT	0.428													C	69135681	T	C	69135681	3	2	19	1	0	0	0	0	1	0	0	0	10753	1406	49	3	2697	3	NUP107	12	69135681	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	583667	69135681	64716214	2069	16368											
CPM	1368	broad.mit.edu	37	chr12	69250279	69250279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaactaggctttgttgcagCtgagtggtctggcaaatttc	11	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:69250279C>T	uc001sup.2	-	9	1331	c.1270G>A	c.(1270-1272)GCT>ACT	p.A424T	CPM_uc001sur.2_Missense_Mutation_p.A424T|CPM_uc001suq.2_Missense_Mutation_p.A424T	NM_198320	NP_938079	P14384	CBPM_HUMAN	carboxypeptidase M precursor	424					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding				0	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTTGTTGCAGCTGAGTGGTCT	0.383													T	69250279	C	T	69250279	3	4	19	1	0	0	0	0	1	0	0	0	3808	797	28	2	65	2	CPM	12	69250279	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	114598	69250279	64601616	2070	16369											
RAB3IP	117177	broad.mit.edu	37	chr12	70195448	70195448	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctaagcattgaaccagtgggAttacaacctatccggtttgt	9	9	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:70195448A>T	uc001svp.2	+	8	1572	c.1125A>T	c.(1123-1125)GGA>GGT	p.G375G	RAB3IP_uc001svm.2_Silent_p.G359G|RAB3IP_uc001svn.2_Silent_p.G359G|RAB3IP_uc001svo.2_Intron|RAB3IP_uc001svq.2_Silent_p.G375G|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_Intron|RAB3IP_uc001svt.2_Silent_p.G153G	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein isoform alpha 2	375					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			AACCAGTGGGATTACAACCTA	0.403													T	70195448	A	T	70195448	2	4	19	1	0	0	0	0	0	0	0	1	12938	320	12	5		5	RAB3IP	12	70195448	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	945169	70195448	63656447	2071	16370											
PTPRB	5787	broad.mit.edu	37	chr12	71029640	71029640	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtccatcggggtgcctgggAacagcggtccaagatggctg	17	10	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:71029640A>G	uc001swc.3	-	2	306	c.262T>C	c.(262-264)TCC>CCC	p.S88P	PTPRB_uc001swa.3_Missense_Mutation_p.S88P|PTPRB_uc001swd.3_Missense_Mutation_p.S87P|PTPRB_uc009zrr.1_Intron|PTPRB_uc001swe.2_Missense_Mutation_p.S88P	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	Error:Variant_position_missing_in_P23467_after_alignment					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGTGCCTGGGAACAGCGGTCC	0.542													G	71029640	A	G	71029640	3	3	19	1	0	0	0	0	1	0	0	0	12796	246	9	3	6575	3	PTPRB	12	71029640	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	834192	71029640	62822255	2072	16371											
LGR5	8549	broad.mit.edu	37	chr12	71974204	71974204	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaatgtttcaggctcaagGtaggacttgctatgccatgg	13	7	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:71974204G>A	uc001swl.2	+	16	1600	c.1552_splice	c.e16+1	p.D518_splice	LGR5_uc001swm.2_Splice_Site_p.D494_splice|LGR5_uc001swn.1_Splice_Site	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled							integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						CAGGCTCAAGGTAGGACTTGC	0.358													A	71974204	G	A	71974204	5	1	19	1	0	0	0	0	0	0	1	0	8757	1275	44	4	1615	4	LGR5	12	71974204	Splice_Site	SNP	G	TCGA-BR-4361-01A-01D-1158-08	944564	71974204	61877691	2073	16372											
ZFC3H1	196441	broad.mit.edu	37	chr12	72038781	72038781	+	Frame_Shift_Del	DEL	T	T	-													tgctgttctttttgttgccaTtttttactggctgactgaag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:72038781delT	uc001swo.2	-	4	1514	c.1155delA	c.(1153-1155)AAAfs	p.K385fs		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	385	Potential.				RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						TTTGTTGCCATTTTTTACTGG	0.348													-	72038781	T	-	72038781	7	5	19	1	0	1	0	1	0	0	0	0	17630	1490	52	0	4942	0	ZFC3H1	12	72038781	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	64577	72038781	61813114	2074	16373											
CSRP2	1466	broad.mit.edu	37	chr12	77253398	77253398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttcccacactttgcacatCggaaacagtttttgtgccag	7	12	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:77253398C>T	uc001syl.1	-	5	517	c.434G>A	c.(433-435)CGA>CAA	p.R145Q		NM_001321	NP_001312	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	145	LIM zinc-binding 2.				multicellular organismal development	nucleus	zinc ion binding			ovary(1)	1						CTTTGCACATCGGAAACAGTT	0.408													T	77253398	C	T	77253398	3	4	19	1	0	0	0	0	1	0	0	0	3967	884	31	1	155	1	CSRP2	12	77253398	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	5214617	77253398	56598497	2075	16374											
E2F7	144455	broad.mit.edu	37	chr12	77449854	77449854	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcgataaatcaattggTtcattttttattggagtctt	7	5	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:77449854T>C	uc001sym.3	-	3	386	c.150A>G	c.(148-150)GAA>GAG	p.E50E	E2F7_uc001syn.2_Silent_p.E50E	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	50					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						AATCAATTGGTTCATTTTTTA	0.363													C	77449854	T	C	77449854	2	2	19	1	0	0	0	0	0	0	0	1	4872	1722	60	3		3	E2F7	12	77449854	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	196456	77449854	56402041	2076	16375											
TMTC2	160335	broad.mit.edu	37	chr12	83359353	83359353	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcagctgcatatttaaatAccggtattattctaatgaac	5	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:83359353A>G	uc001szt.2	+	6	2131	c.1699A>G	c.(1699-1701)ACC>GCC	p.T567A	TMTC2_uc001szr.1_Missense_Mutation_p.T567A|TMTC2_uc001szs.1_Missense_Mutation_p.T567A|TMTC2_uc010suk.1_Missense_Mutation_p.T322A	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	567	TPR 4.					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						ATATTTAAATACCGGTATTAT	0.383													G	83359353	A	G	83359353	3	3	19	1	0	0	0	0	1	0	0	0	16258	391	14	3	1721	3	TMTC2	12	83359353	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	5909499	83359353	50492542	2077	16376											
LRRIQ1	84125	broad.mit.edu	37	chr12	85450662	85450662	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatgcagaaagctccatggtAtctaaagaagtcaactctct	7	9	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:85450662A>T	uc001tac.2	+	8	2202	c.2091A>T	c.(2089-2091)GTA>GTT	p.V697V	LRRIQ1_uc001tab.1_Silent_p.V697V|LRRIQ1_uc001taa.1_Silent_p.V672V	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	697										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		GCTCCATGGTATCTAAAGAAG	0.368													T	85450662	A	T	85450662	2	4	19	1	0	0	0	0	0	0	0	1	9029	436	16	5		5	LRRIQ1	12	85450662	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2091309	85450662	48401233	2078	16377											
RASSF9	9182	broad.mit.edu	37	chr12	86198792	86198792	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgccactcaaatgagagtgAattttcaaaccagctttcat	6	9	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:86198792A>G	uc001taf.1	-	2	1335	c.996T>C	c.(994-996)ATT>ATC	p.I332I		NM_005447	NP_005438	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family	332					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			ovary(1)	1						AATGAGAGTGAATTTTCAAAC	0.388													G	86198792	A	G	86198792	2	3	19	1	0	0	0	0	0	0	0	1	13093	242	9	3		3	RASSF9	12	86198792	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	748130	86198792	47653103	2079	16378											
GALNT4	8693	broad.mit.edu	37	chr12	89917838	89917840	+	In_Frame_Del	DEL	AGG	AGG	-													atctctttcaaaagaactgcAggagaagtttctaaaacact							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:89917837_89917839CAGG>C	uc001tbd.3	-	0	745_747	c.488_490CCTG>G	c.(487-492)cctgca>cGca	p.163_164PA>R	GALNT4_uc001tba.3_Intron|GALNT4_uc001tbb.3_Intron|GALNT4_uc010sun.2_Intron|GALNT4_uc001tbc.3_Intron|GALNT4_uc001tbe.3_In_Frame_Del_p.160_161PA>R|GALNT4_uc010suo.2_Intron	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) (GALNT4), mRNA.	163	Catalytic subdomain A.				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						AAAAGAACTGCAGGAGAAGTTTC	0.399											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	89917840	AGG	-	89917838	7	5	19	1	0	1	0	1	0	0	0	0	6215	175	7	0	1251	0	GALNT4	12	89917838	In_Frame_Del	DEL	AGG	TCGA-BR-4361-01A-01D-1158-08	3719046	89917838	43934057	2080	16379											
ATP2B1	490	broad.mit.edu	37	chr12	89996854	89996854	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcctaaaacaattgtgcagAagatggcattgttaaagatt	9	5	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:89996854A>G	uc001tbh.2	-	17	3207	c.3026T>C	c.(3025-3027)TTC>TCC	p.F1009S	ATP2B1_uc001tbg.2_Missense_Mutation_p.F1009S|ATP2B1_uc001tbf.2_Missense_Mutation_p.F679S	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	1009	Helical; (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						AATTGTGCAGAAGATGGCATT	0.358													G	89996854	A	G	89996854	3	3	19	1	0	0	0	0	1	0	0	0	1139	246	9	3	810	3	ATP2B1	12	89996854	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	79016	89996854	43855041	2081	16380											
EPYC	1833	broad.mit.edu	37	chr12	91358019	91358019	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatagggtttccatccaatcGaatgtcctctagtgccttac	7	11	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:91358019G>A	uc001tbk.2	-	7	976	c.883C>T	c.(883-885)CGA>TGA	p.R295*		NM_004950	NP_004941	Q99645	EPYC_HUMAN	dermatan sulfate proteoglycan 3 precursor	295	LRR 6.				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			skin(1)	1						CCATCCAATCGAATGTCCTCT	0.373													A	91358019	G	A	91358019	4	1	19	1	0	0	0	0	0	1	0	0	5201	1066	37	1	89	1	EPYC	12	91358019	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1361165	91358019	42493876	2082	16381											
PLEKHG7	440107	broad.mit.edu	37	chr12	93162797	93162797	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttcttatacaacacgaaAacagatatcgacagtgtata	5	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:93162797A>G	uc001tcj.2	+	11	1203	c.973A>G	c.(973-975)AAC>GAC	p.N325D		NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G	325	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1						ACAACACGAAAACAGATATCG	0.313													G	93162797	A	G	93162797	3	3	19	1	0	0	0	0	1	0	0	0	12075	14	1	3	1011	3	PLEKHG7	12	93162797	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1804778	93162797	40689098	2083	16382											
SOCS2	8835	broad.mit.edu	37	chr12	93968638	93968638	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacatcagctggaccaactAatcttcgaatcgaataccaa	5	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:93968638A>G	uc001tcw.1	+	3	870	c.280A>G	c.(280-282)AAT>GAT	p.N94D	SOCS2_uc001tcx.1_Missense_Mutation_p.N94D|SOCS2_uc009zsu.2_3'UTR|SOCS2_uc001tcy.1_Missense_Mutation_p.N94D|SOCS2_uc001tcz.2_3'UTR	NM_003877	NP_003868	O14508	SOCS2_HUMAN	suppressor of cytokine signaling-2	94	SH2.				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity			lung(1)	1						TGGACCAACTAATCTTCGAAT	0.373													G	93968638	A	G	93968638	3	3	19	1	0	0	0	0	1	0	0	0	14914	362	13	3	286	3	SOCS2	12	93968638	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	805841	93968638	39883257	2084	16383											
SOCS2	8835	broad.mit.edu	37	chr12	93968662	93968662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgaatcgaataccaagacGgaaaattcagattggactct	8	8	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:93968662G>A	uc001tcw.1	+	3	894	c.304G>A	c.(304-306)GGA>AGA	p.G102R	SOCS2_uc001tcx.1_Missense_Mutation_p.G102R|SOCS2_uc009zsu.2_3'UTR|SOCS2_uc001tcy.1_Missense_Mutation_p.G102R|SOCS2_uc001tcz.2_3'UTR	NM_003877	NP_003868	O14508	SOCS2_HUMAN	suppressor of cytokine signaling-2	102	SH2.				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity			lung(1)	1						ATACCAAGACGGAAAATTCAG	0.373													A	93968662	G	A	93968662	3	1	19	1	0	0	0	0	1	0	0	0	14914	1117	39	1	310	1	SOCS2	12	93968662	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	24	93968662	39883233	2085	16384											
PLXNC1	10154	broad.mit.edu	37	chr12	94580155	94580155	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctctttccttttaggtgaggAgaattcgtgttgcaaactgc	10	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:94580155A>T	uc001tdc.2	+	4	1594	c.1345A>T	c.(1345-1347)AGA>TGA	p.R449*		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	449	Extracellular (Potential).|Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						TTAGGTGAGGAGAATTCGTGT	0.423													T	94580155	A	T	94580155	4	4	19	1	0	0	0	0	0	1	0	0	12126	296	11	5	1359	5	PLXNC1	12	94580155	Nonsense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	611493	94580155	39271740	2086	16385											
FGD6	55785	broad.mit.edu	37	chr12	95603554	95603554	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcctgtagcaggcaagctAtgtctttgaggttttttggg	12	7	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:95603554A>G	uc001tdp.3	-	2	1730	c.1506T>C	c.(1504-1506)CAT>CAC	p.H502H	FGD6_uc009zsx.2_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	502					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|breast(1)	3						CAGGCAAGCTATGTCTTTGAG	0.418													G	95603554	A	G	95603554	2	3	19	1	0	0	0	0	0	0	0	1	5837	446	16	3		3	FGD6	12	95603554	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1023399	95603554	38248341	2087	16386											
ELK3	2004	broad.mit.edu	37	chr12	96641161	96641161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgccttcctggcctcgtcCgtctcggccaagatctcctc	8	19	2	1	rs140155479		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:96641161C>T	uc001teo.1	+	3	930	c.651C>T	c.(649-651)TCC>TCT	p.S217S		NM_005230	NP_005221	P41970	ELK3_HUMAN	ELK3 protein	217					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	all_cancers(2;0.00173)					TGGCCTCGTCCGTCTCGGCCA	0.602													T	96641161	C	T	96641161	2	4	19	1	0	0	0	0	0	0	0	1	5060	639	23	1		1	ELK3	12	96641161	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1037607	96641161	37210734	2088	16387											
C12orf63	374467	broad.mit.edu	37	chr12	97098550	97098550	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatttgactcaggaaaactTcttaccagtaaagaaaatat	5	7	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:97098550T>C	uc001tet.1	+	14	1857	c.1779T>C	c.(1777-1779)CTT>CTC	p.L593L		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	593										skin(6)|ovary(1)	7						CAGGAAAACTTCTTACCAGTA	0.264													C	97098550	T	C	97098550	2	2	19	1	0	0	0	0	0	0	0	1	1706	1770	62	3		3	C12orf63	12	97098550	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	457389	97098550	36753345	2089	16388											
C12orf63	374467	broad.mit.edu	37	chr12	97102450	97102450	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaattggccaaccacatcTcttaaataagtttaattttg	4	8	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:97102450T>C	uc001tet.1	+	15	1946	c.1868T>C	c.(1867-1869)CTC>CCC	p.L623P		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	623										skin(6)|ovary(1)	7						CAACCACATCTCTTAAATAAG	0.318													C	97102450	T	C	97102450	3	2	19	1	0	0	0	0	1	0	0	0	1706	1551	54	3	1922	3	C12orf63	12	97102450	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	3900	97102450	36749445	2090	16389											
C12orf63	374467	broad.mit.edu	37	chr12	97159024	97159024	+	Frame_Shift_Del	DEL	A	A	-													tggatgtctacatattatgcAaaaaaactgatatatgtaat							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:97159024delA	uc001tet.1	+	27	3662	c.3584delA	c.(3583-3585)CAAfs	p.Q1195fs		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	1195										skin(6)|ovary(1)	7						CATATTATGCAAAAAAACTGA	0.338													-	97159024	A	-	97159024	7	5	19	1	0	1	0	1	0	0	0	0	1706	130	5	0	3686	0	C12orf63	12	97159024	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	56574	97159024	36692871	2091	16390											
ANKS1B	56899	broad.mit.edu	37	chr12	99174974	99174974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccttcttcatttgctctGtagacttctgaaattaaaat	6	8	4	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:99174974G>A	uc001tge.1	-	23	3704	c.3287C>T	c.(3286-3288)ACA>ATA	p.T1096I	ANKS1B_uc001tgf.1_Missense_Mutation_p.T612I|ANKS1B_uc001tgk.2_Missense_Mutation_p.T393I|ANKS1B_uc010svd.1_Missense_Mutation_p.T102I|ANKS1B_uc001tgd.1_Missense_Mutation_p.T262I|ANKS1B_uc009ztq.2_5'UTR|ANKS1B_uc010sve.1_Missense_Mutation_p.T126I|ANKS1B_uc001tgh.3_Missense_Mutation_p.T102I|ANKS1B_uc001tgi.2_Missense_Mutation_p.T346I|ANKS1B_uc009ztr.2_Missense_Mutation_p.T286I|ANKS1B_uc001tgj.2_Missense_Mutation_p.T262I|ANKS1B_uc009ztp.2_Missense_Mutation_p.T127I|ANKS1B_uc010svf.1_Missense_Mutation_p.T126I|ANKS1B_uc001tgg.3_Missense_Mutation_p.T194I|ANKS1B_uc010svg.1_Missense_Mutation_p.T231I|ANKS1B_uc009zts.1_Missense_Mutation_p.T322I	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	1096	PID.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CATTTGCTCTGTAGACTTCTG	0.363													A	99174974	G	A	99174974	3	1	19	1	0	0	0	0	1	0	0	0	689	1377	48	4	590	4	ANKS1B	12	99174974	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2015950	99174974	34676921	2092	16391											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100482808	100482808	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttcacaattgcatcattTacatcaggagcatttgaagt	7	7	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:100482808T>C	uc001tgq.2	-	8	1135	c.906A>G	c.(904-906)GTA>GTG	p.V302V	UHRF1BP1L_uc001tgr.2_Silent_p.V302V|UHRF1BP1L_uc001tgp.2_5'UTR	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	302										ovary(2)	2						TTGCATCATTTACATCAGGAG	0.378													C	100482808	T	C	100482808	2	2	19	1	0	0	0	0	0	0	0	1	16966	1741	61	3		3	UHRF1BP1L	12	100482808	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1307834	100482808	33369087	2093	16392											
NR1H4	9971	broad.mit.edu	37	chr12	100904733	100904733	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtggtactctcctggaatatAtgaactcaggcgtatgccag	11	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:100904733A>T	uc001tht.1	+	2	315	c.287A>T	c.(286-288)TAT>TTT	p.Y96F	NR1H4_uc001thp.1_Missense_Mutation_p.Y86F|NR1H4_uc001thq.1_Missense_Mutation_p.Y86F|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.Y86F|NR1H4_uc010svk.1_Missense_Mutation_p.Y86F|NR1H4_uc001ths.1_Missense_Mutation_p.Y96F	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	96					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						CCTGGAATATATGAACTCAGG	0.522													T	100904733	A	T	100904733	3	4	19	1	0	0	0	0	1	0	0	0	10619	449	16	5	263	5	NR1H4	12	100904733	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	421925	100904733	32947162	2094	16393											
GAS2L3	283431	broad.mit.edu	37	chr12	101017693	101017693	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctctatgtcagtccgTtctaaattgccaaattctcc	7	12	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:101017693T>C	uc001thu.2	+	10	1336	c.1110T>C	c.(1108-1110)CGT>CGC	p.R370R	GAS2L3_uc009zty.2_Silent_p.R370R|GAS2L3_uc001thv.2_Silent_p.R266R	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	370					cell cycle arrest					skin(1)	1						TGTCAGTCCGTTCTAAATTGC	0.448													C	101017693	T	C	101017693	2	2	19	1	0	0	0	0	0	0	0	1	6248	1712	60	3		3	GAS2L3	12	101017693	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	112960	101017693	32834202	2095	16394											
ANO4	121601	broad.mit.edu	37	chr12	101381326	101381326	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtaccacaggatcgataaAcaaataagcaggtttcggag	10	7	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:101381326A>G	uc010svm.1	+	8	1184	c.612A>G	c.(610-612)AAA>AAG	p.K204K	ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Silent_p.K169K|ANO4_uc001thx.2_Silent_p.K204K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	204	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						GGATCGATAAACAAATAAGCA	0.507										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	101381326	A	G	101381326	2	3	19	1	0	0	0	0	0	0	0	1	699	40	2	3		3	ANO4	12	101381326	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	363633	101381326	32470569	2096	16395											
GNPTAB	79158	broad.mit.edu	37	chr12	102158448	102158448	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgttattatagcttgattTtttattttagcatgctgtga	7	4	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:102158448T>C	uc001tit.2	-	13	2426	c.2247A>G	c.(2245-2247)AAA>AAG	p.K749K		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	749					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2						TAGCTTGATTTTTTATTTTAG	0.388													C	102158448	T	C	102158448	2	2	19	1	0	0	0	0	0	0	0	1	6545	1838	64	3		3	GNPTAB	12	102158448	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	777122	102158448	31693447	2097	16396											
STAB2	55576	broad.mit.edu	37	chr12	104030964	104030964	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgaagatgaaaacaaacTggaatgcaaatgccttccca	7	10	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:104030964T>G	uc001tjw.2	+	7	845	c.659T>G	c.(658-660)CTG>CGG	p.L220R		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	220	Extracellular (Potential).|EGF-like 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						GAAAACAAACTGGAATGCAAA	0.428													G	104030964	T	G	104030964	3	3	19	1	0	0	0	0	1	0	0	0	15237	1580	55	5	685	5	STAB2	12	104030964	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1872516	104030964	29820931	2098	16397											
STAB2	55576	broad.mit.edu	37	chr12	104123945	104123945	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatatccagtgatatcatcAgtactaatgggattgttcat	7	7	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:104123945A>G	uc001tjw.2	+	49	5320	c.5134A>G	c.(5134-5136)AGT>GGT	p.S1712G	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1712	Extracellular (Potential).|FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						TGATATCATCAGTACTAATGG	0.343													G	104123945	A	G	104123945	3	3	19	1	0	0	0	0	1	0	0	0	15237	188	7	3	5328	3	STAB2	12	104123945	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	92981	104123945	29727950	2099	16398											
STAB2	55576	broad.mit.edu	37	chr12	104142848	104142848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagggatacaaaggggacGggcacagctgcacagagata	15	7	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:104142848G>A	uc001tjw.2	+	59	6538	c.6352G>A	c.(6352-6354)GGG>AGG	p.G2118R	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2118	Extracellular (Potential).|EGF-like 16.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CAAAGGGGACGGGCACAGCTG	0.592													A	104142848	G	A	104142848	3	1	19	1	0	0	0	0	1	0	0	0	15237	1116	39	1	6586	1	STAB2	12	104142848	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	18903	104142848	29709047	2100	16399											
ALDH1L2	160428	broad.mit.edu	37	chr12	105418218	105418218	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctctaatattccagtgtcAccgtcttggttttgagatat	8	8	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:105418218A>G	uc001tlc.2	-	23	2883	c.2756T>C	c.(2755-2757)GTG>GCG	p.V919A	ALDH1L2_uc009zuo.2_Missense_Mutation_p.V374A|ALDH1L2_uc009zup.2_RNA	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	919	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			skin(1)	1						TTCCAGTGTCACCGTCTTGGT	0.448													G	105418218	A	G	105418218	3	3	19	1	0	0	0	0	1	0	0	0	495	159	6	3	19	3	ALDH1L2	12	105418218	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1275370	105418218	28433677	2101	16400											
TCP11L2	255394	broad.mit.edu	37	chr12	106704994	106704994	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtgactcctccagcaaAtccagctctcctgcttgtga	8	14	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:106704994A>G	uc001tln.2	+	2	315	c.141A>G	c.(139-141)AAA>AAG	p.K47K	TCP11L2_uc001tll.2_Silent_p.K47K|TCP11L2_uc001tlm.2_Silent_p.K47K|TCP11L2_uc001tlo.1_RNA	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	47	Ser-rich.									ovary(3)	3						CCTCCAGCAAATCCAGCTCTC	0.522													G	106704994	A	G	106704994	2	3	19	1	0	0	0	0	0	0	0	1	15712	98	4	3		3	TCP11L2	12	106704994	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1286776	106704994	27146901	2102	16401											
POLR3B	55703	broad.mit.edu	37	chr12	106763412	106763412	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctattacagtggatattgaaTatacccgaggcagccagagg	11	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:106763412T>C	uc001tlp.2	+	6	577	c.355T>C	c.(355-357)TAT>CAT	p.Y119H	POLR3B_uc001tlq.2_Missense_Mutation_p.Y61H	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	119					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						GGATATTGAATATACCCGAGG	0.488													C	106763412	T	C	106763412	3	2	19	1	0	0	0	0	1	0	0	0	12229	1406	49	3	377	3	POLR3B	12	106763412	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	58418	106763412	27088483	2103	16402											
PWP1	11137	broad.mit.edu	37	chr12	108082460	108082460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatggcatgcagagtgcacGcacccaggcacgcccaagag	13	13	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:108082460G>A	uc001tmo.1	+	3	287	c.200G>A	c.(199-201)CGC>CAC	p.R67H	PWP1_uc001tmn.1_RNA|PWP1_uc009zuu.1_Missense_Mutation_p.R67H	NM_007062	NP_008993	Q13610	PWP1_HUMAN	periodic tryptophan protein 1	67					transcription, DNA-dependent	nucleus					0						CAGAGTGCACGCACCCAGGCA	0.517													A	108082460	G	A	108082460	3	1	19	1	0	0	0	0	1	0	0	0	12843	1087	38	1	210	1	PWP1	12	108082460	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1319048	108082460	25769435	2104	16403											
WSCD2	9671	broad.mit.edu	37	chr12	108589987	108589987	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccgggagaaggaggaagaGcgaggtaagagcgaggaaca	19	5	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:108589987G>T	uc001tms.2	+	2	1122	c.378G>T	c.(376-378)GAG>GAT	p.E126D	WSCD2_uc001tmt.2_Missense_Mutation_p.E126D	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	126						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						AGGAGGAAGAGCGAGGTAAGA	0.542													T	108589987	G	T	108589987	3	4	19	1	0	0	0	0	1	0	0	0	17404	962	34	5	380	5	WSCD2	12	108589987	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	507527	108589987	25261908	2105	16404											
SART3	9733	broad.mit.edu	37	chr12	108924060	108924060	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccttttcttcttcttgctGcacaagggctgcttccttct	7	13	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:108924060G>A	uc001tmz.1	-	15	2009	c.1774C>T	c.(1774-1776)CAG>TAG	p.Q592*	SART3_uc001tmy.1_Nonsense_Mutation_p.Q118*|SART3_uc009zux.1_Nonsense_Mutation_p.Q204*|SART3_uc010swx.1_Nonsense_Mutation_p.Q556*|SART3_uc010swy.1_Nonsense_Mutation_p.Q478*|SART3_uc010swz.1_Nonsense_Mutation_p.Q592*|SART3_uc001tna.1_RNA	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	592	Potential.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						TCTTCTTGCTGCACAAGGGCT	0.473									Porokeratosis				A	108924060	G	A	108924060	4	1	19	1	0	0	0	0	0	1	0	0	13847	1328	46	2	1137	2	SART3	12	108924060	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	334073	108924060	24927835	2106	16405											
SART3	9733	broad.mit.edu	37	chr12	108926095	108926095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagccttccggcagtgctgGgtgtcaccatgagctctaag	13	11	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:108926095G>A	uc001tmz.1	-	13	1807	c.1572C>T	c.(1570-1572)ACC>ACT	p.T524T	SART3_uc001tmy.1_Silent_p.T50T|SART3_uc009zux.1_Silent_p.T136T|SART3_uc010swx.1_Silent_p.T488T|SART3_uc010swy.1_Silent_p.T410T|SART3_uc010swz.1_Silent_p.T524T|SART3_uc001tna.1_RNA	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	524					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						GGCAGTGCTGGGTGTCACCAT	0.567									Porokeratosis				A	108926095	G	A	108926095	2	1	19	1	0	0	0	0	0	0	0	1	13847	1219	43	4		4	SART3	12	108926095	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2035	108926095	24925800	2107	16406											
SSH1	54434	broad.mit.edu	37	chr12	109194580	109194580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtttataaaatgatacGcttcattccagtgggcgagg	10	7	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:109194580G>A	uc001tnm.2	-	12	1211	c.1124C>T	c.(1123-1125)GCG>GTG	p.A375V	SSH1_uc001tnl.2_Missense_Mutation_p.A63V|SSH1_uc010sxg.1_Missense_Mutation_p.A386V|SSH1_uc001tnn.3_Missense_Mutation_p.A375V	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	375	Tyrosine-protein phosphatase.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4						AAAATGATACGCTTCATTCCA	0.468													A	109194580	G	A	109194580	3	1	19	1	0	0	0	0	1	0	0	0	15183	1087	38	1	2227	1	SSH1	12	109194580	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	268485	109194580	24657315	2108	16407											
ACACB	32	broad.mit.edu	37	chr12	109604775	109604775	+	Frame_Shift_Del	DEL	G	G	-													ctgagtttgtcacacgctttGggggggatcgggtcatcgag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:109604774_109604774TG>T	uc001tob.3	+	2	881	c.762_762TG>T	c.(760-762)tttfs	p.F254fs	ACACB_uc001toc.3_Frame_Shift_Del_p.F254fs	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	254					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCACACGCTTTGGGGGGGATC	0.617													-	109604775	G	-	109604775	7	5	19	1	0	1	0	1	0	0	0	0	107	1348	47	0	769	0	ACACB	12	109604775	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	410195	109604775	24247120	2109	16408											
ACACB	32	broad.mit.edu	37	chr12	109674991	109674991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagaagatcgcatttacCgtcacttggaacctgccctg	9	12	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:109674991C>T	uc001tob.2	+	34	4587	c.4468C>T	c.(4468-4470)CGT>TGT	p.R1490C	ACACB_uc001toc.2_Missense_Mutation_p.R1490C|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.R156C	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1490					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	TCGCATTTACCGTCACTTGGA	0.547													T	109674991	C	T	109674991	3	4	19	1	0	0	0	0	1	0	0	0	107	652	23	1	4598	1	ACACB	12	109674991	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	70216	109674991	24176904	2110	16409											
ACACB	32	broad.mit.edu	37	chr12	109685462	109685462	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actacaccagaatcagctccCtgaactccgtccactgtaaa	5	15	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:109685462C>A	uc001tob.2	+	40	5742	c.5623C>A	c.(5623-5625)CTG>ATG	p.L1875M	ACACB_uc001toc.2_Missense_Mutation_p.L1875M|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.L541M	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1875	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	AATCAGCTCCCTGAACTCCGT	0.428													A	109685462	C	A	109685462	3	1	19	1	0	0	0	0	1	0	0	0	107	680	24	5	5777	5	ACACB	12	109685462	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	10471	109685462	24166433	2111	16410											
KCTD10	83892	broad.mit.edu	37	chr12	109894111	109894111	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtttttcaacatattgtcgtCagaattgctgcaaaagagca	8	7	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:109894111C>T	uc001toi.1	-	6	623	c.535G>A	c.(535-537)GAC>AAC	p.D179N	KCTD10_uc001toh.1_RNA|KCTD10_uc009zvi.1_Intron|KCTD10_uc001toj.1_Missense_Mutation_p.D188N|KCTD10_uc001tok.1_5'UTR	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	potassium channel tetramerisation domain	179					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity				0						ATATTGTCGTCAGAATTGCTG	0.308													T	109894111	C	T	109894111	3	4	19	1	0	0	0	0	1	0	0	0	8097	826	29	4	414	4	KCTD10	12	109894111	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	208649	109894111	23957784	2112	16411											
C12orf34	84915	broad.mit.edu	37	chr12	110206189	110206189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgccctacccagtgcccaGcactctgggtcccttggcct	10	18	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:110206189G>A	uc001tpd.1	+	3	1014	c.455G>A	c.(454-456)AGC>AAC	p.S152N	MGC14436_uc010sxs.1_Intron|MGC14436_uc001tpe.2_Intron|C12orf34_uc001tpf.1_Missense_Mutation_p.S152N	NM_032829	NP_116218	Q5U5X8	CL034_HUMAN	hypothetical protein LOC84915	152	Pro-rich.									ovary(1)	1						CCAGTGCCCAGCACTCTGGGT	0.716													A	110206189	G	A	110206189	3	1	19	1	0	0	0	0	1	0	0	0	1681	971	34	2	461	2	C12orf34	12	110206189	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	312078	110206189	23645706	2113	16412											
C12orf34	84915	broad.mit.edu	37	chr12	110206716	110206716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgagcgggccagcgggtcaCccctcaactgtggcgtgggg	17	13	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:110206716C>T	uc001tpd.1	+	3	1541	c.982C>T	c.(982-984)CCC>TCC	p.P328S	MGC14436_uc010sxs.1_Intron|MGC14436_uc001tpe.2_Intron|C12orf34_uc001tpf.1_Missense_Mutation_p.P328S	NM_032829	NP_116218	Q5U5X8	CL034_HUMAN	hypothetical protein LOC84915	328										ovary(1)	1						CAGCGGGTCACCCCTCAACTG	0.687													T	110206716	C	T	110206716	3	4	19	1	0	0	0	0	1	0	0	0	1681	507	18	4	988	4	C12orf34	12	110206716	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	527	110206716	23645179	2114	16413											
TRPV4	59341	broad.mit.edu	37	chr12	110246174	110246174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccgtccaggtcagcagtGgagccccgggacacgatgtc	14	14	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:110246174G>A	uc001tpj.1	-	2	581	c.486C>T	c.(484-486)TCC>TCT	p.S162S	TRPV4_uc001tpg.1_Silent_p.S128S|TRPV4_uc001tph.1_Silent_p.S162S|TRPV4_uc001tpi.1_Silent_p.S162S|TRPV4_uc001tpk.1_Silent_p.S162S|TRPV4_uc001tpl.1_Silent_p.S162S	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	162	Cytoplasmic (Potential).				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						GGTCAGCAGTGGAGCCCCGGG	0.612													A	110246174	G	A	110246174	2	1	19	1	0	0	0	0	0	0	0	1	16595	1335	47	4		4	TRPV4	12	110246174	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	39458	110246174	23605721	2115	16414											
ANAPC7	51434	broad.mit.edu	37	chr12	110834127	110834127	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtctcacttttgaagtttTacttagcgctttcttctgct	7	9	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:110834127T>C	uc001tqo.2	-	2	335	c.334A>G	c.(334-336)AAA>GAA	p.K112E	ANAPC7_uc001tqp.3_Missense_Mutation_p.K112E	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	anaphase-promoting complex subunit 7 isoform a	112					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding				0						TTTGAAGTTTTACTTAGCGCT	0.353													C	110834127	T	C	110834127	3	2	19	1	0	0	0	0	1	0	0	0	606	1763	61	3	1509	3	ANAPC7	12	110834127	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	587953	110834127	23017768	2116	16415											
CUX2	23316	broad.mit.edu	37	chr12	111760355	111760355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgaccagctcggccaggCagtgggccagcagcctggtg	15	14	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:111760355C>T	uc001tsa.1	+	18	3050	c.2897C>T	c.(2896-2898)GCA>GTA	p.A966V		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	966	CUT 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						CTCGGCCAGGCAGTGGGCCAG	0.672													T	111760355	C	T	111760355	3	4	19	1	0	0	0	0	1	0	0	0	4065	710	25	2	2967	2	CUX2	12	111760355	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	926228	111760355	22091540	2117	16416											
ATXN2	6311	broad.mit.edu	37	chr12	111907920	111907920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcttcctaccatacatcGcatgcgtctgctcatgagcc	8	14	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:111907920G>A	uc001tsj.2	-	20	3470	c.3308C>T	c.(3307-3309)GCG>GTG	p.A1103V	ATXN2_uc001tsh.2_Missense_Mutation_p.A838V|ATXN2_uc001tsi.2_Missense_Mutation_p.A814V|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Missense_Mutation_p.A291V|ATXN2_uc001tsl.1_Missense_Mutation_p.A122V	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	1103					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						ACCATACATCGCATGCGTCTG	0.438													A	111907920	G	A	111907920	3	1	19	1	0	0	0	0	1	0	0	0	1211	1087	38	1	657	1	ATXN2	12	111907920	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	147565	111907920	21943975	2118	16417											
ATXN2	6311	broad.mit.edu	37	chr12	111951319	111951319	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatttcgaggatgtcgctggGcctttggggacatccttgga	15	8	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:111951319G>T	uc001tsj.2	-	11	2042	c.1880C>A	c.(1879-1881)GCC>GAC	p.A627D	ATXN2_uc001tsh.2_Missense_Mutation_p.A362D|ATXN2_uc001tsi.2_Missense_Mutation_p.A338D|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Missense_Mutation_p.A362D	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	627	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						ATGTCGCTGGGCCTTTGGGGA	0.443													T	111951319	G	T	111951319	3	4	19	1	0	0	0	0	1	0	0	0	1211	1203	42	5	2121	5	ATXN2	12	111951319	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	43399	111951319	21900576	2119	16418											
ACAD10	80724	broad.mit.edu	37	chr12	112193510	112193510	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatgattaaaatggtcgcCccgtccatggcctcccgagt	10	14	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:112193510C>T	uc001tsq.2	+	20	3200	c.3000C>T	c.(2998-3000)GCC>GCT	p.A1000A	ACAD10_uc009zvx.2_Silent_p.A1031A|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	1000							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						AAATGGTCGCCCCGTCCATGG	0.522													T	112193510	C	T	112193510	2	4	19	1	0	0	0	0	0	0	0	1	108	610	22	4		4	ACAD10	12	112193510	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	242191	112193510	21658385	2120	16419											
ALDH2	217	broad.mit.edu	37	chr12	112229927	112229927	+	Frame_Shift_Del	DEL	G	G	-													aagagagtgaccttggagctGggggggaagagccccaacat							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:112229926_112229926TG>T	uc001tst.3	+	7	953	c.857_857TG>T	c.(856-858)ctgfs	p.L286fs	ALDH2_uc010syi.2_Frame_Shift_Del_p.L239fs	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	286					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.K289fs*45(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	ACCTTGGAGCTGGGGGGGAAG	0.572			T	HMGA2	leiomyoma								-	112229927	G	-	112229927	7	5	19	1	0	1	0	1	0	0	0	0	496	1335	47	0	888	0	ALDH2	12	112229927	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	36417	112229927	21621968	2121	16420											
C12orf51	283450	broad.mit.edu	37	chr12	112600860	112600861	+	Frame_Shift_Ins	INS	-	-	G													ggtacctgctgtgccatctgINSggggggcgatcttcatgggg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:112600859_112600860T>TG	uc021reb.1	-	74	13100_13101	c.12704_12705A>CA	c.(12703-12705)ccafs	p.P4235fs		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CTGTGCCATCTGGGGGGGCGAT	0.629													G	112600861	-	G	112600860	7	5	19	1	0	1	1	0	0	0	0	0	1696	1348	47	0	158	0	C12orf51	12	112600860	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	370933	112600860	21251035	2122	16421											
C12orf51	283450	broad.mit.edu	37	chr12	112688056	112688056	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatcaaagtagtttccaacaGgaggcacgaggacatcagag	12	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:112688056G>T	uc009zwc.2	-	18	2594	c.2576C>A	c.(2575-2577)CCT>CAT	p.P859H	C12orf51_uc010syk.1_Missense_Mutation_p.P681H|C12orf51_uc001tts.2_Missense_Mutation_p.P672H|C12orf51_uc001ttt.3_Missense_Mutation_p.P670H	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						GTTTCCAACAGGAGGCACGAG	0.527													T	112688056	G	T	112688056	3	4	19	1	0	0	0	0	1	0	0	0	1696	1000	35	5	9622	5	C12orf51	12	112688056	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	87196	112688056	21163839	2123	16422											
PTPN11	5781	broad.mit.edu	37	chr12	112924296	112924296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggaatacggagagaacGgtctggcaataccactttcg	13	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:112924296G>A	uc001ttx.2	+	11	1622	c.1242G>A	c.(1240-1242)ACG>ACA	p.T414T	PTPN11_uc001ttw.1_Silent_p.T414T	NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	418	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392						CGGAGAGAACGGTCTGGCAAT	0.527			Mis		JMML|AML|MDS		Noonan Syndrome		Noonan_syndrome				A	112924296	G	A	112924296	2	1	19	1	0	0	0	0	0	0	0	1	12780	1103	39	1		1	PTPN11	12	112924296	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	236240	112924296	20927599	2124	16423											
OAS3	4940	broad.mit.edu	37	chr12	113379472	113379472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctatgtggaccagagggCccgccgtgcagagatcctca	14	12	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:113379472C>T	uc001tug.2	+	2	362	c.275C>T	c.(274-276)GCC>GTC	p.A92V	OAS3_uc001tue.2_Missense_Mutation_p.A92V|OAS3_uc001tuf.2_Missense_Mutation_p.A92V	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	92	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1						GACCAGAGGGCCCGCCGTGCA	0.602													T	113379472	C	T	113379472	3	4	19	1	0	0	0	0	1	0	0	0	10801	739	26	2	281	2	OAS3	12	113379472	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	455176	113379472	20472423	2125	16424											
MED13L	23389	broad.mit.edu	37	chr12	116403940	116403940	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggacacgatgaccaaaaccActggggaagattctcagctt	11	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:116403940A>G	uc001tvw.2	-	29	6389	c.6334T>C	c.(6334-6336)TGG>CGG	p.W2112R		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2112					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GACCAAAACCACTGGGGAAGA	0.473													G	116403940	A	G	116403940	3	3	19	1	0	0	0	0	1	0	0	0	9431	159	6	3	310	3	MED13L	12	116403940	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3024468	116403940	17447955	2126	16425											
MED13L	23389	broad.mit.edu	37	chr12	116421280	116421280	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgtccctgtgctgctgctgGtggggtctggtatttaggtg	16	7	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:116421280G>C	uc001tvw.2	-	21	4652	c.4597C>G	c.(4597-4599)CCA>GCA	p.P1533A		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1533					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCTGCTGCTGGTGGGGTCTGG	0.512											OREG0022156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	116421280	G	C	116421280	3	2	19	1	0	0	0	0	1	0	0	0	9431	1261	44	5	2079	5	MED13L	12	116421280	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	17340	116421280	17430615	2127	16426											
MED13L	23389	broad.mit.edu	37	chr12	116428979	116428979	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttgcacccggtcataActccagcttacacagggaag	9	13	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:116428979A>G	uc001tvw.2	-	17	3835	c.3780T>C	c.(3778-3780)AGT>AGC	p.S1260S		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1260					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCCGGTCATAACTCCAGCTTA	0.468													G	116428979	A	G	116428979	2	3	19	1	0	0	0	0	0	0	0	1	9431	40	2	3		3	MED13L	12	116428979	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	7699	116428979	17422916	2128	16427											
MED13L	23389	broad.mit.edu	37	chr12	116429691	116429691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggcagcgctgttcaacGtcacgggtgtgttcatctgt	14	10	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:116429691G>A	uc001tvw.2	-	17	3123	c.3068C>T	c.(3067-3069)ACG>ATG	p.T1023M		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1023					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCTGTTCAACGTCACGGGTGT	0.562													A	116429691	G	A	116429691	3	1	19	1	0	0	0	0	1	0	0	0	9431	1145	40	1	3624	1	MED13L	12	116429691	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	712	116429691	17422204	2129	16428											
FBXO21	23014	broad.mit.edu	37	chr12	117603360	117603360	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgcacctggtccgggTacattgccagatagagatcc	12	11	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:117603360T>C	uc001twk.2	-	9	1295	c.1256A>G	c.(1255-1257)TAC>TGC	p.Y419C	FBXO21_uc001twj.2_Missense_Mutation_p.Y419C|FBXO21_uc009zwq.2_Missense_Mutation_p.Y359C|FBXO21_uc001twl.1_Missense_Mutation_p.Y32C	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	419					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CTGGTCCGGGTACATTGCCAG	0.493													C	117603360	T	C	117603360	3	2	19	1	0	0	0	0	1	0	0	0	5733	1638	57	3	646	3	FBXO21	12	117603360	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1173669	117603360	16248535	2130	16429											
NOS1	4842	broad.mit.edu	37	chr12	117665266	117665266	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaggaaacgatggccacagTgaggtgcacttcatcagggt	14	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:117665266T>C	uc001twm.1	-	23	4272	c.3586A>G	c.(3586-3588)ACT>GCT	p.T1196A		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1196	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATGGCCACAGTGAGGTGCACT	0.622													C	117665266	T	C	117665266	3	2	19	1	0	0	0	0	1	0	0	0	10541	1696	59	3	746	3	NOS1	12	117665266	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	61906	117665266	16186629	2131	16430											
VSIG10	54621	broad.mit.edu	37	chr12	118506221	118506221	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttcccatctgttctatgtTcccattcaccaaggcggtca	6	13	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:118506221T>C	uc001tws.2	-	8	1862	c.1528A>G	c.(1528-1530)AAC>GAC	p.N510D		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	510	Cytoplasmic (Potential).					integral to membrane					0						TGTTCTATGTTCCCATTCACC	0.403													C	118506221	T	C	118506221	3	2	19	1	0	0	0	0	1	0	0	0	17220	1783	62	3	102	3	VSIG10	12	118506221	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	840955	118506221	15345674	2132	16431											
CCDC60	160777	broad.mit.edu	37	chr12	119942961	119942961	+	Frame_Shift_Del	DEL	G	G	-													tcagtctgagtcgggccagtGgggggtcctctccccagagc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:119942960_119942960TG>T	uc001txe.3	+	6	1200	c.735_735TG>T	c.(733-735)agtfs	p.S245fs	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	245										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTCGGGCCAGTGGGGGGTCCT	0.562													-	119942961	G	-	119942961	7	5	19	1	0	1	0	1	0	0	0	0	2831	1348	47	0	762	0	CCDC60	12	119942961	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	1436740	119942961	13908934	2133	16432											
HNF1A	6927	broad.mit.edu	37	chr12	121438866	121438866	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagccttgtttgcctctgcAgtgtcctccagcagcctggt	11	14	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:121438866A>G	uc001tzg.2	+	10	1792	c.1769_splice	c.e10-2	p.V590_splice	HNF1A_uc010szn.1_Splice_Site_p.V597_splice	NM_000545	NP_000536	P20823	HNF1A_HUMAN	hepatic nuclear factor-1-alpha						glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1)	116	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTGCCTCTGCAGTGTCCTCCA	0.622									Hepatic_Adenoma_Familial_Clustering_of				G	121438866	A	G	121438866	5	3	19	1	0	0	0	0	0	0	1	0	7251	202	7	3	1805	3	HNF1A	12	121438866	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1495905	121438866	12413029	2134	16433											
KDM2B	84678	broad.mit.edu	37	chr12	121880281	121880281	+	Frame_Shift_Del	DEL	G	G	-													ggggacgctcgcagatgcccGggggccgcttgggctcctcg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:121880280_121880280CG>C	uc001uat.3	-	18	3068	c.2964_2964CG>G	c.(2962-2964)ccgfs	p.P988fs	KDM2B_uc010szy.2_Frame_Shift_Del_p.P428fs|KDM2B_uc001uaq.3_Frame_Shift_Del_p.P428fs|KDM2B_uc001uar.3_Frame_Shift_Del_p.P579fs|KDM2B_uc001uas.3_Frame_Shift_Del_p.P919fs|KDM2B_uc021rfd.1_Frame_Shift_Del_p.P919fs|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Frame_Shift_Del_p.P988fs|KDM2B_uc001uao.3_Frame_Shift_Del_p.P236fs|KDM2B_uc010szx.2_Frame_Shift_Del_p.P236fs|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	988					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CGCAGATGCCCGGGGGCCGCT	0.711													-	121880281	G	-	121880281	7	5	19	1	0	1	0	1	0	0	0	0	8125	1116	39	0	1119	0	KDM2B	12	121880281	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	441415	121880281	11971614	2135	16434											
KDM2B	84678	broad.mit.edu	37	chr12	121958857	121958857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctgtgcaggatgtttccGccgaacaccaaagagtctac	10	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:121958857G>A	uc001uat.2	-	9	1082	c.978C>T	c.(976-978)GGC>GGT	p.G326G	KDM2B_uc001uas.2_Silent_p.G295G|KDM2B_uc001uau.2_Silent_p.G209G|KDM2B_uc001uav.3_Intron	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	326	JmjC.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						GGATGTTTCCGCCGAACACCA	0.612													A	121958857	G	A	121958857	2	1	19	1	0	0	0	0	0	0	0	1	8125	1074	38	1		1	KDM2B	12	121958857	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	78576	121958857	11893038	2136	16435											
KDM2B	84678	broad.mit.edu	37	chr12	122018773	122018773	+	Frame_Shift_Del	DEL	G	G	-													ctgctgcatgtctttttcgtGgggggtgatcctctgcagat							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:122018772_122018772TG>T	uc001uat.3	-	0	149	c.45_45CA>A	c.(43-45)ccafs	p.P15fs	KDM2B_uc001uas.3_5'Flank|KDM2B_uc021rfd.1_5'Flank|KDM2B_uc001uau.3_5'UTR|KDM2B_uc021rfe.1_Frame_Shift_Del_p.P15fs|KDM2B_uc001uav.4_Frame_Shift_Del_p.P15fs	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	15					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GTCTTTTTCGTGGGGGGTGAT	0.483													-	122018773	G	-	122018773	7	5	19	1	0	1	0	1	0	0	0	0	8125	1348	47	0	4147	0	KDM2B	12	122018773	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	59916	122018773	11833122	2137	16436											
DIABLO	56616	broad.mit.edu	37	chr12	122702813	122702813	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagttaagaggagacatacCttagtatattcagtaatagc	9	5	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:122702813C>A	uc010tab.1	-	4	1120	c.315G>T	c.(313-315)AAG>AAT	p.K105N	DIABLO_uc010taa.1_Missense_Mutation_p.K52N|DIABLO_uc010tac.1_Intron|DIABLO_uc010tad.1_Intron|VPS33A_uc001ucc.2_RNA	NM_019887	NP_063940	Q9NR28	DBLOH_HUMAN	diablo isoform 1 precursor	105				Missing (in Ref. 2; BAB71568).	activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GGAGACATACCTTAGTATATT	0.264													A	122702813	C	A	122702813	3	1	19	1	0	0	0	0	1	0	0	0	4517	695	24	5	420	5	DIABLO	12	122702813	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	684040	122702813	11149082	2138	16437											
CLIP1	6249	broad.mit.edu	37	chr12	122812630	122812631	+	Frame_Shift_Ins	INS	-	-	T													taggatttcttcatgcttggINStttttgtctcagaagtggct					rs145767151		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:122812630_122812631insT	uc001ucg.1	-	16	3218_3219	c.3112_3113insA	c.(3112-3114)ACCfs	p.T1038fs	CLIP1_uc001uch.1_Frame_Shift_Ins_p.T1027fs|CLIP1_uc001uci.1_Frame_Shift_Ins_p.T992fs|CLIP1_uc001ucj.1_Frame_Shift_Ins_p.T613fs	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	1038	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTCATGCTTGGTTTTTGTCTCA	0.525													T	122812631	-	T	122812630	7	5	19	1	0	1	1	0	0	0	0	0	3532	1261	44	0	1243	0	CLIP1	12	122812630	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	109817	122812630	11039265	2139	16438	54	2									
CLIP1	6249	broad.mit.edu	37	chr12	122812631	122812632	+	Frame_Shift_Ins	INS	-	-	T													aggatttcttcatgcttggtINSttttgtctcagaagtggctc					rs145767151		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:122812630_122812631G>GT	uc001ucg.2	-	16	3267_3268	c.3112_3113C>AC	c.(3112-3114)accfs	p.T1038fs	CLIP1_uc001uch.1_Frame_Shift_Ins_p.T1027fs|CLIP1_uc001uci.1_Frame_Shift_Ins_p.T992fs|CLIP1_uc001ucj.1_Frame_Shift_Ins_p.T613fs	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1038					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTCATGCTTGGTTTTTGTCTCA	0.525													T	122812632	-	T	122812631	7	5	19	1	0	1	1	0	0	0	0	0	3532	1725	60	0	1244	0	CLIP1	12	122812631	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	1	122812631	11039264	2140	16439	54	2									
RSRC2	65117	broad.mit.edu	37	chr12	123006781	123006781	+	Frame_Shift_Del	DEL	T	T	-													acagatacttctgactgctcTtttttcttatctctatctgg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:123006780_123006780CT>C	uc001ucr.3	-	1	233	c.73_73AG>G	c.(73-75)gagfs	p.E25fs	RSRC2_uc001uco.3_5'UTR|RSRC2_uc001ucp.3_5'UTR|RSRC2_uc001ucs.3_5'UTR|RSRC2_uc001uct.3_5'UTR|RSRC2_uc021rfm.1_Frame_Shift_Del_p.E25fs	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	Homo sapiens arginine/serine-rich coiled-coil 2 (RSRC2), transcript variant 1, mRNA.	25										breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TCTGACTGCTCTTTTTTCTTA	0.358													-	123006781	T	-	123006781	7	5	19	1	0	1	0	1	0	0	0	0	13715	1606	56	0	1302	0	RSRC2	12	123006781	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	194150	123006781	10845114	2141	16440											
VPS37B	79720	broad.mit.edu	37	chr12	123351983	123351983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaggtgccagttcgggcaGcctggggggcagcggggcca	21	10	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:123351983G>A	uc001udl.2	-	4	641	c.538C>T	c.(538-540)CTG>TTG	p.L180L		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37B	180	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane					0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		AGTTCGGGCAGCCTGGGGGGC	0.692													A	123351983	G	A	123351983	2	1	19	1	0	0	0	0	0	0	0	1	17203	962	34	2		2	VPS37B	12	123351983	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	345202	123351983	10499912	2142	16441											
EIF2B1	1967	broad.mit.edu	37	chr12	124106441	124106441	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaggtcttgtccagtctgCgcgaccttgagagtgtctgc	13	10	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:124106441C>T	uc001ufm.2	-	9	923	c.780G>A	c.(778-780)GCG>GCA	p.A260A	EIF2B1_uc001ufn.2_Silent_p.A258A	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B,	260					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		GTCCAGTCTGCGCGACCTTGA	0.522													T	124106441	C	T	124106441	2	4	19	1	0	0	0	0	0	0	0	1	5000	755	27	1		1	EIF2B1	12	124106441	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	754458	124106441	9745454	2143	16442											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124228846	124228846	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatttgccctcttgttggtgTtaaatgaaaatcatcccaga	7	8	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:124228846T>C	uc001ufr.2	+	11	1536	c.1288T>C	c.(1288-1290)TTA>CTA	p.L430L		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	430	Lumenal (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CTTGTTGGTGTTAAATGAAAA	0.393													C	124228846	T	C	124228846	2	2	19	1	0	0	0	0	0	0	0	1	1169	1722	60	3		3	ATP6V0A2	12	124228846	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	122405	124228846	9623049	2144	16443											
DNAH10	196385	broad.mit.edu	37	chr12	124274609	124274609	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgacctttgaccccttcAgcatcaagtcctcccagttc	5	17	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:124274609A>G	uc001uft.3	+	11	1598	c.1573A>G	c.(1573-1575)AGC>GGC	p.S525G	DNAH10_uc010tav.1_Missense_Mutation_p.S10G|DNAH10_uc010taw.1_Missense_Mutation_p.S10G	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	525	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGACCCCTTCAGCATCAAGTC	0.507													G	124274609	A	G	124274609	3	3	19	1	0	0	0	0	1	0	0	0	4598	188	7	3	1615	3	DNAH10	12	124274609	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	45763	124274609	9577286	2145	16444											
DNAH10	196385	broad.mit.edu	37	chr12	124283835	124283835	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggtaggacaatgaaggagTatgaagacagaaagtatgag	14	2	0	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:124283835T>C	uc001uft.3	+	13	1877	c.1852T>C	c.(1852-1854)TAT>CAT	p.Y618H	DNAH10_uc010tav.1_Missense_Mutation_p.Y160H|DNAH10_uc010taw.1_Missense_Mutation_p.Y103H	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	618	Stem (By similarity).|Potential.				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AATGAAGGAGTATGAAGACAG	0.448													C	124283835	T	C	124283835	3	2	19	1	0	0	0	0	1	0	0	0	4598	1638	57	3	1902	3	DNAH10	12	124283835	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	9226	124283835	9568060	2146	16445											
CCDC92	80212	broad.mit.edu	37	chr12	124422058	124422058	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggccagcacggggctcccTgacgggctggcatctgaggt	16	13	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:124422058T>C	uc001ufw.1	-	5	690	c.543A>G	c.(541-543)TCA>TCG	p.S181S	CCDC92_uc001ufv.1_Silent_p.S164S|CCDC92_uc001ufx.1_Silent_p.S181S|CCDC92_uc001ufy.1_Silent_p.S164S	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	181											0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CGGGGCTCCCTGACGGGCTGG	0.657													C	124422058	T	C	124422058	2	2	19	1	0	0	0	0	0	0	0	1	2871	1567	55	3		3	CCDC92	12	124422058	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	138223	124422058	9429837	2147	16446											
DHX37	57647	broad.mit.edu	37	chr12	125461903	125461903	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctacctgctgaagcctgctTcatagagaaactgaggcacc	9	13	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:125461903T>C	uc001ugy.2	-	5	971	c.872A>G	c.(871-873)GAA>GGA	p.E291G		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	291	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GAAGCCTGCTTCATAGAGAAA	0.522													C	125461903	T	C	125461903	3	2	19	1	0	0	0	0	1	0	0	0	4510	1783	62	3	2693	3	DHX37	12	125461903	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1039845	125461903	8389992	2148	16447											
DHX37	57647	broad.mit.edu	37	chr12	125473501	125473501	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cggggggcggctcgggggggCccttcgagggtccggggccc	23	13	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:125473501C>G	uc001ugy.2	-	1	167	c.68G>C	c.(67-69)GGC>GCC	p.G23A		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	23							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CTCGGGGGGGCCCTTCGAGGG	0.726													G	125473501	C	G	125473501	3	3	19	1	0	0	0	0	1	0	0	0	4510	739	26	5	3513	5	DHX37	12	125473501	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	11598	125473501	8378394	2149	16448											
TMEM132B	114795	broad.mit.edu	37	chr12	126138514	126138514	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagcagtccaggaatggtTccaccgtggcacacctgttg	13	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:126138514T>C	uc001uhe.1	+	9	2503	c.2495T>C	c.(2494-2496)TTC>TCC	p.F832S	TMEM132B_uc001uhf.1_Missense_Mutation_p.F344S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	832	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAGGAATGGTTCCACCGTGGC	0.488													C	126138514	T	C	126138514	3	2	19	1	0	0	0	0	1	0	0	0	16043	1783	62	3	2529	3	TMEM132B	12	126138514	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	665013	126138514	7713381	2150	16449											
TMEM132D	121256	broad.mit.edu	37	chr12	129566529	129566529	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtactgcagggtgcagccGcggcccctccgctcatcatc	12	16	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:129566529G>A	uc009zyl.1	-	7	2026	c.1698C>T	c.(1696-1698)CGC>CGT	p.R566R	TMEM132D_uc001uia.2_Silent_p.R104R	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	566	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGGTGCAGCCGCGGCCCCTCC	0.637													A	129566529	G	A	129566529	2	1	19	1	0	0	0	0	0	0	0	1	16044	1074	38	1		1	TMEM132D	12	129566529	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3428015	129566529	4285366	2151	16450											
ULK1	8408	broad.mit.edu	37	chr12	132400526	132400526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgacttgcacgtcgtccGccccaagctgcccaaacccc	8	19	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:132400526G>A	uc001uje.2	+	19	1968	c.1700G>A	c.(1699-1701)CGC>CAC	p.R567H		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	567					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CACGTCGTCCGCCCCAAGCTG	0.706													A	132400526	G	A	132400526	3	1	19	1	0	0	0	0	1	0	0	0	16972	1087	38	1	1774	1	ULK1	12	132400526	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2833997	132400526	1451369	2152	16451											
PUS1	80324	broad.mit.edu	37	chr12	132426240	132426240	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgagagcgtgctggagcgCagctggggcacagagaaggt	18	9	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:132426240C>T	uc001ujf.2	+	5	1427	c.948C>T	c.(946-948)CGC>CGT	p.R316R	PUS1_uc001ujg.2_Silent_p.R288R|PUS1_uc001ujh.2_Silent_p.R288R|PUS1_uc001uji.2_Silent_p.R263R	NM_025215	NP_079491	Q9Y606	TRUA_HUMAN	pseudouridine synthase 1 isoform 1	316						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		TGCTGGAGCGCAGCTGGGGCA	0.622													T	132426240	C	T	132426240	2	4	19	1	0	0	0	0	0	0	0	1	12830	697	25	2		2	PUS1	12	132426240	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	25714	132426240	1425655	2153	16452											
DDX51	317781	broad.mit.edu	37	chr12	132626443	132626443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccagagacttctgtcccGtaaccagggagactctcaga	11	12	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:132626443G>A	uc001ujy.3	-	6	986	c.947C>T	c.(946-948)ACG>ATG	p.T316M	NOC4L_uc001ujz.1_5'Flank	NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	316	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			lung(1)|pancreas(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CTTCTGTCCCGTAACCAGGGA	0.562													A	132626443	G	A	132626443	3	1	19	1	0	0	0	0	1	0	0	0	4369	1145	40	1	1093	1	DDX51	12	132626443	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	200203	132626443	1225452	2154	16453											
POLE	5426	broad.mit.edu	37	chr12	133219487	133219487	+	Frame_Shift_Del	DEL	G	G	-													cgaacttcgaaggtgtgtttGgggggtggcaggagctcagg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:133219486_133219486TG>T	uc001uks.1	-	35	4692	c.4648_4648CA>A	c.(4648-4650)aaafs	p.K1550fs	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Frame_Shift_Del_p.K354fs|POLE_uc010tbq.1_Non-coding_Transcript	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1550					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AAGGTGTGTTTGGGGGGTGGC	0.607								DNA polymerases (catalytic subunits)					-	133219487	G	-	133219487	7	5	19	1	0	1	0	1	0	0	0	0	12196	1335	47	0	2269	0	POLE	12	133219487	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	593044	133219487	632408	2155	16454											
GOLGA3	2802	broad.mit.edu	37	chr12	133350799	133350799	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccttgctcacggcgggCggtggtctcagcagctcctc	14	15	2	0	rs148152813	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:133350799C>T	uc001ukz.1	-	23	4810	c.4251G>A	c.(4249-4251)CCG>CCA	p.P1417P		NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1417	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCACGGCGGGCGGTGGTCTCA	0.607													T	133350799	C	T	133350799	2	4	19	1	0	0	0	0	0	0	0	1	6554	755	27	1		1	GOLGA3	12	133350799	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	131312	133350799	501096	2156	16455											
GOLGA3	2802	broad.mit.edu	37	chr12	133365855	133365855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctttggaggtggcgtcgcGccggtaggcctccaccatca	14	13	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:133365855G>A	uc001ukz.1	-	13	3128	c.2569C>T	c.(2569-2571)CGC>TGC	p.R857C	GOLGA3_uc001ula.1_Missense_Mutation_p.R857C|GOLGA3_uc001ulb.2_Missense_Mutation_p.R857C	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	857	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTGGCGTCGCGCCGGTAGGCC	0.647													A	133365855	G	A	133365855	3	1	19	1	0	0	0	0	1	0	0	0	6554	1087	38	1	2113	1	GOLGA3	12	133365855	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	15056	133365855	486040	2157	16456											
GOLGA3	2802	broad.mit.edu	37	chr12	133374952	133374952	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctgcagctgtgccgcgaTgcgccccttctccttcatgg	11	17	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:133374952T>C	uc001ukz.1	-	9	2471	c.1912A>G	c.(1912-1914)ATC>GTC	p.I638V	GOLGA3_uc001ula.1_Missense_Mutation_p.I638V|GOLGA3_uc001ulb.2_Missense_Mutation_p.I638V	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	638	Gln-rich.|Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGTGCCGCGATGCGCCCCTTC	0.587													C	133374952	T	C	133374952	3	2	19	1	0	0	0	0	1	0	0	0	6554	1464	51	3	2786	3	GOLGA3	12	133374952	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	9097	133374952	476943	2158	16457											
ZNF268	10795	broad.mit.edu	37	chr12	133768141	133768141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggcagctgctagacccaGcacagaagtgcctgtacagg	13	11	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:133768141G>A	uc010tcf.1	+	4	631	c.301G>A	c.(301-303)GCA>ACA	p.A101T	ZNF268_uc010tbv.1_5'UTR|ZNF268_uc010tbw.1_Intron|ZNF268_uc010tbx.1_Intron|ZNF268_uc010tby.1_Intron|ZNF268_uc010tbz.1_5'UTR|ZNF268_uc010tca.1_5'UTR|ZNF268_uc010tcb.1_Intron|ZNF268_uc010tcc.1_Intron|ZNF268_uc010tcd.1_5'UTR|ZNF268_uc010tce.1_Intron|ZNF268_uc010tcg.1_5'UTR|ZNF268_uc010tch.1_Missense_Mutation_p.A101T	NM_003415	NP_003406	Q14587	ZN268_HUMAN	zinc finger protein 268 isoform a	101	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GCTAGACCCAGCACAGAAGTG	0.488													A	133768141	G	A	133768141	3	1	19	1	0	0	0	0	1	0	0	0	17804	971	34	2	311	2	ZNF268	12	133768141	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	393189	133768141	83754	2159	16458											
GJB6	10804	broad.mit.edu	37	chr13	20797216	20797216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagatgctgctggtgtacGtccaccacagcgacccctct	9	14	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:20797216G>A	uc001umz.3	-	3	957	c.404C>T	c.(403-405)ACG>ATG	p.T135M	GJB6_uc001unc.3_Missense_Mutation_p.T135M|GJB6_uc001una.3_Missense_Mutation_p.T135M|GJB6_uc001und.3_Missense_Mutation_p.T135M|GJB6_uc001unb.3_Missense_Mutation_p.T135M	NM_006783	NP_006774	O95452	CXB6_HUMAN	gap junction protein, beta 6	135	Helical; (Potential).				cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				ovary(1)	1		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		GCTGGTGTACGTCCACCACAG	0.458													A	20797216	G	A	20797216	3	1	19	1	0	0	0	0	1	0	0	0	6412	1145	40	1	385	1	GJB6	13	20797216	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08		20797216	94372662	2160	16459											
LATS2	26524	broad.mit.edu	37	chr13	21557671	21557671	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagtttgaccacccactcaTtgtctgcctcggccaggatg	10	13	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:21557671T>C	uc009zzs.2	-	5	2539	c.2174A>G	c.(2173-2175)AAT>AGT	p.N725S	LATS2_uc001unr.3_Missense_Mutation_p.N725S	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	725	Protein kinase.|ATP (By similarity).				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CACCCACTCATTGTCTGCCTC	0.542													C	21557671	T	C	21557671	3	2	19	1	0	0	0	0	1	0	0	0	8647	1493	52	3	1108	3	LATS2	13	21557671	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	760455	21557671	93612207	2161	16460											
SGCG	6445	broad.mit.edu	37	chr13	23853591	23853591	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgagaaggaagttgtggTtggtacagataaacttcgag	14	3	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:23853591T>C	uc001uom.2	+	5	634	c.479T>C	c.(478-480)GTT>GCT	p.V160A	SGCG_uc009zzv.2_Missense_Mutation_p.V160A|SGCG_uc009zzw.2_Missense_Mutation_p.V160A	NM_000231	NP_000222	Q13326	SGCG_HUMAN	gamma sarcoglycan	160	Extracellular (Potential).				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma					0		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GAAGTTGTGGTTGGTACAGAT	0.398													C	23853591	T	C	23853591	3	2	19	1	0	0	0	0	1	0	0	0	14203	1725	60	3	493	3	SGCG	13	23853591	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2295920	23853591	91316287	2162	16461											
SACS	26278	broad.mit.edu	37	chr13	23906235	23906235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctacttttataatgtggcGcatcgtcaaacactaagatg	7	8	2	1	rs142926244		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:23906235G>A	uc001uon.2	-	10	12369	c.11780C>T	c.(11779-11781)GCG>GTG	p.A3927V	SACS_uc001uoo.2_Missense_Mutation_p.A3780V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3927					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATAATGTGGCGCATCGTCAAA	0.443													A	23906235	G	A	23906235	3	1	19	1	0	0	0	0	1	0	0	0	13804	1087	38	1	1963	1	SACS	13	23906235	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	52644	23906235	91263643	2163	16462											
SACS	26278	broad.mit.edu	37	chr13	23914771	23914771	+	Missense_Mutation	SNP	C	C	T													tcttaaggagtgaagaatatCtggtgaggtaaaaactgagg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:23914771C>T	uc001uon.2	-	10	3833	c.3244G>A	c.(3244-3246)GAT>AAT	p.D1082N	SACS_uc001uoo.2_Missense_Mutation_p.D935N|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1082					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGAAGAATATCTGGTGAGGTA	0.383													T	23914771	C	T	23914771	3	4	19	1	0	0	0	0	1	0	0	0	13804	913	32	4	10499	4	SACS	13	23914771	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	8536	23914771	91255107	2164	16463	55	2									
SACS	26278	broad.mit.edu	37	chr13	23914780	23914780	+	Missense_Mutation	SNP	T	T	C													gtgaagaatatctggtgaggTaaaaactgagggtgggaaat							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:23914780T>C	uc001uon.2	-	10	3824	c.3235A>G	c.(3235-3237)ACC>GCC	p.T1079A	SACS_uc001uoo.2_Missense_Mutation_p.T932A|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1079					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCTGGTGAGGTAAAAACTGAG	0.383													C	23914780	T	C	23914780	3	2	19	1	0	0	0	0	1	0	0	0	13804	1638	57	3	10508	3	SACS	13	23914780	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	9	23914780	91255098	2165	16464	55	2									
SPATA13	221178	broad.mit.edu	37	chr13	24823711	24823711	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagatggggctctgggagaCggccaaggcctcggccattc	17	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:24823711C>T	uc001upg.1	+	2	282	c.-125C>T	c.(-127--123)GACGG>GATGG		SPATA13_uc001upd.1_Missense_Mutation_p.R584W|C1QTNF9_uc001upe.2_Intron|SPATA13_uc010tcy.1_5'Flank|SPATA13_uc010tcz.1_5'Flank	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	spermatogenesis associated 13						cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CTCTGGGAGACGGCCAAGGCC	0.602													T	24823711	C	T	24823711	1	4	19	1	0	0	0	0	0	0	0	0	14999	527	19	1		1	SPATA13	13	24823711	Translation_Start_Site	SNP	C	TCGA-BR-4361-01A-01D-1158-08	908931	24823711	90346167	2166	16465											
PARP4	143	broad.mit.edu	37	chr13	25075869	25075869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctcttttccctgatagatTtccatataaaatctgggttt	6	8	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:25075869T>C	uc001upl.2	-	3	342	c.236A>G	c.(235-237)AAA>AGA	p.K79R	PARP4_uc010tdc.1_Missense_Mutation_p.K79R	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	79	BRCT.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CCTGATAGATTTCCATATAAA	0.393													C	25075869	T	C	25075869	3	2	19	1	0	0	0	0	1	0	0	0	11463	1841	64	3	5066	3	PARP4	13	25075869	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	252158	25075869	90094009	2167	16466											
ATP12A	479	broad.mit.edu	37	chr13	25264840	25264840	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaagaacatctgcttctaTtccacaacgtgtctggaagg	8	10	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:25264840T>C	uc001upp.2	+	7	967	c.780T>C	c.(778-780)TAT>TAC	p.Y260Y	ATP12A_uc010aaa.2_Silent_p.Y260Y	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	260	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TCTGCTTCTATTCCACAACGT	0.547													C	25264840	T	C	25264840	2	2	19	1	0	0	0	0	0	0	0	1	1122	1500	52	3		3	ATP12A	13	25264840	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	188971	25264840	89905038	2168	16467											
RNF17	56163	broad.mit.edu	37	chr13	25399866	25399866	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttcaagatcaagcctgtgTagctaaatttgaagatggaa	10	5	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:25399866T>C	uc001upr.2	+	16	2242	c.2201T>C	c.(2200-2202)GTA>GCA	p.V734A	RNF17_uc010tdd.1_Missense_Mutation_p.V593A|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.V734A|RNF17_uc001ups.2_Missense_Mutation_p.V673A	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	734	Tudor 1.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CAAGCCTGTGTAGCTAAATTT	0.358													C	25399866	T	C	25399866	3	2	19	1	0	0	0	0	1	0	0	0	13461	1638	57	3	2263	3	RNF17	13	25399866	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	135026	25399866	89770012	2169	16468											
CENPJ	55835	broad.mit.edu	37	chr13	25480479	25480479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aattttccttttccttttctCgttcccaagtctctaacttt	2	12	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:25480479C>T	uc001upt.3	-	7	1950	c.1697G>A	c.(1696-1698)CGA>CAA	p.R566Q	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_5'Flank	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	566					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTCCTTTTCTCGTTCCCAAGT	0.383													T	25480479	C	T	25480479	3	4	19	1	0	0	0	0	1	0	0	0	3234	884	31	1	2363	1	CENPJ	13	25480479	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	80613	25480479	89689399	2170	16469											
PABPC3	5042	broad.mit.edu	37	chr13	25670497	25670497	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccagcggctcctccaactAcgcgtatgtgaacttccagc	8	16	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:25670497A>G	uc001upy.2	+	1	222	c.161A>G	c.(160-162)TAC>TGC	p.Y54C		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	54	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCCTCCAACTACGCGTATGTG	0.547													G	25670497	A	G	25670497	3	3	19	1	0	0	0	0	1	0	0	0	11365	391	14	3	163	3	PABPC3	13	25670497	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	190018	25670497	89499381	2171	16470											
FAM123A	219287	broad.mit.edu	37	chr13	25745036	25745036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcgcgcgcggctctgggcGtctcctccttgacgcactcc	12	18	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:25745036G>A	uc001uqb.2	-	1	822	c.722C>T	c.(721-723)ACG>ATG	p.T241M	FAM123A_uc001uqa.2_Missense_Mutation_p.T241M|FAM123A_uc001uqc.2_Missense_Mutation_p.T241M	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	241										ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GGCTCTGGGCGTCTCCTCCTT	0.627													A	25745036	G	A	25745036	3	1	19	1	0	0	0	0	1	0	0	0	5422	1145	40	1	1297	1	FAM123A	13	25745036	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	74539	25745036	89424842	2172	16471											
GPR12	2835	broad.mit.edu	37	chr13	27333371	27333371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaccgagaggatggccgcGttgttcttggtgagcggtct	16	9	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:27333371G>A	uc010aal.2	-	2	816	c.594C>T	c.(592-594)AAC>AAT	p.N198N	GPR12_uc010tdl.1_Silent_p.N39N	NM_005288	NP_005279	P47775	GPR12_HUMAN	G protein-coupled receptor 12	198	Extracellular (Potential).					integral to plasma membrane					0	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GGATGGCCGCGTTGTTCTTGG	0.587													A	27333371	G	A	27333371	2	1	19	1	0	0	0	0	0	0	0	1	6635	1136	40	1		1	GPR12	13	27333371	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1588335	27333371	87836507	2173	16472											
LNX2	222484	broad.mit.edu	37	chr13	28124542	28124542	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaggctgattggtgtggTtctcttcatatccaccaacg	9	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:28124542T>C	uc001url.3	-	9	2174	c.1865A>G	c.(1864-1866)AAC>AGC	p.N622S		NM_153371	NP_699202	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	622	PDZ 4.						zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		ATTGGTGTGGTTCTCTTCATA	0.368													C	28124542	T	C	28124542	3	2	19	1	0	0	0	0	1	0	0	0	8866	1725	60	3	215	3	LNX2	13	28124542	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	791171	28124542	87045336	2174	16473											
GSX1	219409	broad.mit.edu	37	chr13	28367838	28367838	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgcatcgagatcgcgacctAcctgaatctgtccgagaagc	10	13	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:28367838A>G	uc001urr.1	+	2	596	c.548A>G	c.(547-549)TAC>TGC	p.Y183C		NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	GS homeobox 1	183	Homeobox.				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		ATCGCGACCTACCTGAATCTG	0.527													G	28367838	A	G	28367838	3	3	19	1	0	0	0	0	1	0	0	0	6849	391	14	3	554	3	GSX1	13	28367838	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	243296	28367838	86802040	2175	16474											
PAN3	255967	broad.mit.edu	37	chr13	28862160	28862160	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtcagagactggagaccgTtatctgttgaaactctttag	11	7	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:28862160T>C	uc001urz.2	+	17	1994	c.1986T>C	c.(1984-1986)CGT>CGC	p.R662R	PAN3_uc001ury.2_Silent_p.R496R|PAN3_uc001urx.2_Silent_p.R608R	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	808	Interaction with PAN2.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CTGGAGACCGTTATCTGTTGA	0.438													C	28862160	T	C	28862160	2	2	19	1	0	0	0	0	0	0	0	1	11415	1712	60	3		3	PAN3	13	28862160	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	494322	28862160	86307718	2176	16475											
USPL1	10208	broad.mit.edu	37	chr13	31205398	31205398	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccactggagagcaaatgtAcatcatttccccaggcttta	8	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:31205398A>G	uc001utc.2	+	4	1087	c.655A>G	c.(655-657)ACA>GCA	p.T219A	USPL1_uc001utb.2_Missense_Mutation_p.T38A|USPL1_uc001utd.2_Intron|USPL1_uc001ute.1_5'Flank	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	219					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(2)|skin(1)	3		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GAGCAAATGTACATCATTTCC	0.438													G	31205398	A	G	31205398	3	3	19	1	0	0	0	0	1	0	0	0	17089	391	14	3	665	3	USPL1	13	31205398	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2343238	31205398	83964480	2177	16476											
HSPH1	10808	broad.mit.edu	37	chr13	31717998	31717998	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggggagactgtgaggtttgTtgagcatcagtttgtacctg	16	5	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:31717998T>C	uc001utj.2	-	12	2045	c.1647A>G	c.(1645-1647)CAA>CAG	p.Q549Q	HSPH1_uc001utk.2_Intron|HSPH1_uc010aaw.2_Silent_p.Q508Q|HSPH1_uc001utl.2_Silent_p.Q551Q|HSPH1_uc010tds.1_Silent_p.Q473Q	NM_006644	NP_006635	Q92598	HS105_HUMAN	heat shock 105kD	549					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding				0		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GTGAGGTTTGTTGAGCATCAG	0.443													C	31717998	T	C	31717998	2	2	19	1	0	0	0	0	0	0	0	1	7431	1722	60	3		3	HSPH1	13	31717998	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	512600	31717998	83451880	2178	16477											
BRCA2	675	broad.mit.edu	37	chr13	32913347	32913347	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctaagctcttaagtgatAatttatgtagacaaactgaa	6	7	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:32913347A>G	uc001uub.1	+	11	5082	c.4855A>G	c.(4855-4857)AAT>GAT	p.N1619D		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1619					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTTAAGTGATAATTTATGTAG	0.328			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			G	32913347	A	G	32913347	3	3	19	1	0	0	0	0	1	0	0	0	1499	362	13	3	4893	3	BRCA2	13	32913347	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1195349	32913347	82256531	2179	16478											
BRCA2	675	broad.mit.edu	37	chr13	32929041	32929041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagaatccaaattttaccGcacctggtcaagaatttctg	6	10	2	2	rs80358930		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:32929041G>A	uc001uub.1	+	14	7278	c.7051G>A	c.(7051-7053)GCA>ACA	p.A2351T		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2351	Interaction with FANCD2.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAATTTTACCGCACCTGGTCA	0.333			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			A	32929041	G	A	32929041	3	1	19	1	0	0	0	0	1	0	0	0	1499	1087	38	1	7101	1	BRCA2	13	32929041	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	15694	32929041	82240837	2180	16479											
BRCA2	675	broad.mit.edu	37	chr13	32972893	32972893	+	Frame_Shift_Del	DEL	A	A	-													agcaggacacaattacaactAaaaaatatatctaagcattt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:32972892_32972892TA>T	uc001uub.1	+	26	10469	c.10242_10242TA>T	c.(10240-10242)actfs	p.T3414fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	3414					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAATTACAACTAAAAAATATA	0.358			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			-	32972893	A	-	32972893	7	5	19	1	0	1	0	1	0	0	0	0	1499	363	13	0	10345	0	BRCA2	13	32972893	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	43852	32972893	82196985	2181	16480											
NBEA	26960	broad.mit.edu	37	chr13	35733985	35733985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttctgaaagagacttagCgtcatcaactaaggggctgg	11	7	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:35733985C>T	uc001uvb.2	+	23	3883	c.3677C>T	c.(3676-3678)GCG>GTG	p.A1226V	NBEA_uc010abi.2_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1226						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGAGACTTAGCGTCATCAACT	0.373													T	35733985	C	T	35733985	3	4	19	1	0	0	0	0	1	0	0	0	10187	768	27	1	3763	1	NBEA	13	35733985	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2761092	35733985	79435893	2182	16481											
NBEA	26960	broad.mit.edu	37	chr13	35770145	35770145	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcctgaatggggcagaatTagaaacaagtacaggccctg	11	9	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:35770145T>C	uc001uvb.2	+	31	5278	c.5072T>C	c.(5071-5073)TTA>TCA	p.L1691S	NBEA_uc010abi.2_Missense_Mutation_p.L347S	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1691						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GGGGCAGAATTAGAAACAAGT	0.433													C	35770145	T	C	35770145	3	2	19	1	0	0	0	0	1	0	0	0	10187	1764	61	3	5194	3	NBEA	13	35770145	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	36160	35770145	79399733	2183	16482											
NBEA	26960	broad.mit.edu	37	chr13	36125104	36125104	+	Frame_Shift_Del	DEL	A	A	-													ttccctgatcaagcaacagtAaaaaaagttgtctatagctt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:36125104delA	uc001uvb.2	+	43	6947	c.6741delA	c.(6739-6741)GTAfs	p.V2247fs	NBEA_uc010abi.2_Frame_Shift_Del_p.V903fs|NBEA_uc010tee.1_Frame_Shift_Del_p.V40fs|NBEA_uc010tef.1_Frame_Shift_Del_p.V40fs|NBEA_uc010teg.1_Frame_Shift_Del_p.V40fs	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2247						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AAGCAACAGTAAAAAAAGTTG	0.378													-	36125104	A	-	36125104	7	5	19	1	0	1	0	1	0	0	0	0	10187	349	13	0	6911	0	NBEA	13	36125104	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	354959	36125104	79044774	2184	16483											
SMAD9	4093	broad.mit.edu	37	chr13	37453642	37453642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcatttgctgggctgccccGggcagctgagagccctctcc	13	16	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:37453642G>A	uc001uvw.2	-	2	528	c.185C>T	c.(184-186)CCG>CTG	p.P62L	SMAD9_uc001uvx.2_Missense_Mutation_p.P62L|SMAD9_uc010tep.1_5'UTR	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	62	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GGGCTGCCCCGGGCAGCTGAG	0.602													A	37453642	G	A	37453642	3	1	19	1	0	0	0	0	1	0	0	0	14764	1116	39	1	1242	1	SMAD9	13	37453642	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1328538	37453642	77716236	2185	16484											
EXOSC8	11340	broad.mit.edu	37	chr13	37577117	37577117	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctttagtgaagttgggaaaTactacagtaatctgtggagt	12	4	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:37577117T>A	uc001uwa.2	+	4	430	c.165T>A	c.(163-165)AAT>AAA	p.N55K	EXOSC8_uc001uvz.2_RNA|EXOSC8_uc001uwb.2_Missense_Mutation_p.N55K|EXOSC8_uc001uwc.2_RNA	NM_181503	NP_852480	Q96B26	EXOS8_HUMAN	exosome component 8	55					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			pancreas(1)	1		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		AGTTGGGAAATACTACAGTAA	0.313													A	37577117	T	A	37577117	3	1	19	1	0	0	0	0	1	0	0	0	5320	1403	49	5	179	5	EXOSC8	13	37577117	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	123475	37577117	77592761	2186	16485											
FAM48A	55578	broad.mit.edu	37	chr13	37583829	37583829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaattttggagtggttgGcgtgcctctcttcattttac	9	8	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:37583829G>A	uc001uwg.2	-	26	2568	c.2320C>T	c.(2320-2322)CCA>TCA	p.P774S	FAM48A_uc010abt.2_3'UTR|FAM48A_uc001uwh.2_3'UTR|FAM48A_uc001uwi.2_3'UTR|FAM48A_uc001uwj.2_3'UTR|FAM48A_uc001uwk.2_3'UTR|FAM48A_uc001uwd.2_3'UTR|FAM48A_uc001uwe.2_Missense_Mutation_p.P258S|FAM48A_uc001uwf.2_Missense_Mutation_p.P340S	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	774					autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		GGAGTGGTTGGCGTGCCTCTC	0.393													A	37583829	G	A	37583829	3	1	19	1	0	0	0	0	1	0	0	0	5572	1203	42	2	23	2	FAM48A	13	37583829	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	6712	37583829	77586049	2187	16486											
FREM2	341640	broad.mit.edu	37	chr13	39265089	39265089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatttatggtgatggaagGcatgagtctggtaattgata	13	2	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:39265089G>A	uc001uwv.2	+	1	3917	c.3608G>A	c.(3607-3609)GGC>GAC	p.G1203D		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1203	CSPG 8.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTGATGGAAGGCATGAGTCTG	0.418													A	39265089	G	A	39265089	3	1	19	1	0	0	0	0	1	0	0	0	6045	1203	42	2	3610	2	FREM2	13	39265089	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1681260	39265089	75904789	2188	16487											
FREM2	341640	broad.mit.edu	37	chr13	39265723	39265723	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgttacttttatgtgtccatCgggagcattgacattgtctt	9	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:39265723C>T	uc001uwv.2	+	1	4551	c.4242C>T	c.(4240-4242)ATC>ATT	p.I1414I		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1414	Extracellular (Potential).|CSPG 10.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATGTGTCCATCGGGAGCATTG	0.428													T	39265723	C	T	39265723	2	4	19	1	0	0	0	0	0	0	0	1	6045	874	31	1		1	FREM2	13	39265723	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	634	39265723	75904155	2189	16488											
FREM2	341640	broad.mit.edu	37	chr13	39425215	39425215	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttggtgaacaaaatgaaActctcataaggatccgagat	9	7	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:39425215A>G	uc001uwv.2	+	10	7021	c.6712A>G	c.(6712-6714)ACT>GCT	p.T2238A	FREM2_uc001uww.2_Missense_Mutation_p.T324A	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2238	Extracellular (Potential).|Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACAAAATGAAACTCTCATAAG	0.408													G	39425215	A	G	39425215	3	3	19	1	0	0	0	0	1	0	0	0	6045	43	2	3	6750	3	FREM2	13	39425215	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	159492	39425215	75744663	2190	16489											
KBTBD6	89890	broad.mit.edu	37	chr13	41705362	41705362	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccattgagatatgccacaTccatgccctcacgacacagc	7	15	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:41705362T>C	uc001uxu.1	-	1	1575	c.1286A>G	c.(1285-1287)GAT>GGT	p.D429G	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.D363G|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	429	Kelch 1.						protein binding			ovary(1)|skin(1)	2		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATATGCCACATCCATGCCCTC	0.473													C	41705362	T	C	41705362	3	2	19	1	0	0	0	0	1	0	0	0	7997	1435	50	3	742	3	KBTBD6	13	41705362	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2280147	41705362	73464516	2191	16490											
KBTBD7	84078	broad.mit.edu	37	chr13	41768040	41768040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacctcgaaggactcggcGtccacatcgtgcatggtcac	10	14	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:41768040G>A	uc001uxw.1	-	1	663	c.354C>T	c.(352-354)GAC>GAT	p.D118D	uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	118	BTB.						protein binding			ovary(1)	1		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AGGACTCGGCGTCCACATCGT	0.592													A	41768040	G	A	41768040	2	1	19	1	0	0	0	0	0	0	0	1	7998	1136	40	1		1	KBTBD7	13	41768040	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	62678	41768040	73401838	2192	16491											
KIAA0564	23078	broad.mit.edu	37	chr13	42149902	42149902	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttctagtctttgcttatTgtccttggggattttgttca	8	6	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:42149902T>C	uc001uyj.2	-	43	5414	c.5344A>G	c.(5344-5346)AAT>GAT	p.N1782D		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1782	VWFA.					extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		CTTTGCTTATTGTCCTTGGGG	0.353													C	42149902	T	C	42149902	3	2	19	1	0	0	0	0	1	0	0	0	8185	1812	63	3	385	3	KIAA0564	13	42149902	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	381862	42149902	73019976	2193	16492											
AKAP11	11215	broad.mit.edu	37	chr13	42873774	42873774	+	Frame_Shift_Del	DEL	T	T	-													atagtgatttacagaaaacaTttttttcgtcttctcctgcc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:42873774delT	uc001uys.1	+	8	1067	c.892delT	c.(892-894)TTTfs	p.F298fs		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	298	Ser-rich.				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ACAGAAAACATTTTTTTCGTC	0.363													-	42873774	T	-	42873774	7	5	19	1	0	1	0	1	0	0	0	0	447	1493	52	0	914	0	AKAP11	13	42873774	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	723872	42873774	72296104	2194	16493											
ENOX1	55068	broad.mit.edu	37	chr13	43872523	43872523	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgcagaaactgcagttGctggtccttggtgaggtttt	13	7	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:43872523G>A	uc001uza.3	-	12	1705	c.1405C>T	c.(1405-1407)CAA>TAA	p.Q469*	ENOX1_uc001uzb.3_Nonsense_Mutation_p.Q469*|ENOX1_uc001uzc.3_Nonsense_Mutation_p.Q469*|ENOX1_uc001uyz.3_Nonsense_Mutation_p.Q78*	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	469	Potential.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		AACTGCAGTTGCTGGTCCTTG	0.443													A	43872523	G	A	43872523	4	1	19	1	0	0	0	0	0	1	0	0	5126	1328	46	2	550	2	ENOX1	13	43872523	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	998749	43872523	71297355	2195	16494											
C13orf31	144811	broad.mit.edu	37	chr13	44463069	44463069	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttcatcctgcatgtgtaCaactatttgattcaccaaat	4	10	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:44463069C>T	uc010acg.2	+	5	1569	c.1084C>T	c.(1084-1086)CAA>TAA	p.Q362*	C13orf31_uc001uzf.3_Nonsense_Mutation_p.Q362*	NM_001128303	NP_001121775	Q8IV20	CM031_HUMAN	hypothetical protein LOC144811	362											0		Lung NSC(96;0.000163)|all_hematologic(4;0.0127)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Breast(139;0.0364)|Lung SC(185;0.0367)|Acute lymphoblastic leukemia(4;0.138)		GBM - Glioblastoma multiforme(144;0.000573)|BRCA - Breast invasive adenocarcinoma(63;0.121)		TGCATGTGTACAACTATTTGA	0.388													T	44463069	C	T	44463069	4	4	19	1	0	0	0	0	0	1	0	0	1726	479	17	4	1098	4	C13orf31	13	44463069	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	590546	44463069	70706809	2196	16495											
SPERT	220082	broad.mit.edu	37	chr13	46276602	46276602	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctggcaactcacattggTatggctttttacttgagata	8	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:46276602T>C	uc001van.1	+	1	155	c.75_splice	c.e1+2	p.L25_splice	SPERT_uc001vao.2_5'Flank	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated							cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CTCACATTGGTATGGCTTTTT	0.378													C	46276602	T	C	46276602	5	2	19	1	0	0	0	0	0	0	1	0	15038	1652	57	3	79	3	SPERT	13	46276602	Splice_Site	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1813533	46276602	68893276	2197	16496											
ZC3H13	23091	broad.mit.edu	37	chr13	46554101	46554101	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgatagttgctattactacTgtgactatcaatttgagaac	7	6	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:46554101T>C	uc010tfw.1	-	10	1765	c.1759A>G	c.(1759-1761)AGT>GGT	p.S587G	ZC3H13_uc001vas.1_Missense_Mutation_p.S587G|ZC3H13_uc001vat.1_Missense_Mutation_p.S587G	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	587	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTATTACTACTGTGACTATCA	0.383													C	46554101	T	C	46554101	3	2	19	1	0	0	0	0	1	0	0	0	17562	1580	55	3	2963	3	ZC3H13	13	46554101	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	277499	46554101	68615777	2198	16497											
SUCLA2	8803	broad.mit.edu	37	chr13	48570976	48570976	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcttttcttaatttagtAcctaattttttggcaattgc	5	6	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:48570976A>G	uc001vbs.2	-	2	328	c.271_splice	c.e2+1	p.G91_splice	SUCLA2_uc010tgb.1_Splice_Site_p.G31_splice|SUCLA2_uc010tgc.1_Splice_Site|SUCLA2_uc010tgd.1_Splice_Site_p.G31_splice|SUCLA2_uc001vbt.1_Splice_Site|SUCLA2_uc001vbu.1_Splice_Site_p.G91_splice	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit						succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)	1		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TTAATTTAGTACCTAATTTTT	0.348													G	48570976	A	G	48570976	5	3	19	1	0	0	0	0	0	0	1	0	15362	405	14	3	1158	3	SUCLA2	13	48570976	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2016875	48570976	66598902	2199	16498											
RB1	5925	broad.mit.edu	37	chr13	48947548	48947548	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttatcccctctaggactgttAtgaacactatccaacaatta	4	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:48947548A>T	uc001vcb.2	+	12	1301	c.1135A>T	c.(1135-1137)ATG>TTG	p.M379L	RB1_uc010act.1_Missense_Mutation_p.M80L	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	379	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(7)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAGGACTGTTATGAACACTAT	0.303		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	48947548	A	T	48947548	3	4	19	1	0	0	0	0	1	0	0	0	13098	449	16	5	1181	5	RB1	13	48947548	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	376572	48947548	66222330	2200	16499											
INTS6	26512	broad.mit.edu	37	chr13	52004496	52004496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtgataattattgctggCtccaagaaaaaagggtttct	9	5	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:52004496C>T	uc001vfk.2	-	4	977	c.363G>A	c.(361-363)GAG>GAA	p.E121E	INTS6_uc001vfj.2_Silent_p.E108E|INTS6_uc001vfl.2_5'UTR	NM_012141	NP_036273	Q9UL03	INT6_HUMAN	integrator complex subunit 6 isoform a	121	VWFA.				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			ovary(1)|lung(1)	2		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TTATTGCTGGCTCCAAGAAAA	0.363													T	52004496	C	T	52004496	2	4	19	1	0	0	0	0	0	0	0	1	7782	796	28	2		2	INTS6	13	52004496	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3056948	52004496	63165382	2201	16500											
NEK3	4752	broad.mit.edu	37	chr13	52726815	52726815	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaaggcacatttgggtaaAccaattaagtatctgtaaga	8	7	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:52726815A>G	uc001vgi.2	-	5	557	c.322T>C	c.(322-324)TTT>CTT	p.F108L	NEK3_uc001vgg.2_Missense_Mutation_p.F102L|NEK3_uc001vgh.2_Missense_Mutation_p.F129L|NEK3_uc010tgx.1_RNA|NEK3_uc010tgy.1_Missense_Mutation_p.F108L	NM_152720	NP_689933	P51956	NEK3_HUMAN	NIMA-related kinase 3 isoform a	108	Interaction with VAV2.|Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		ATTTGGGTAAACCAATTAAGT	0.368													G	52726815	A	G	52726815	3	3	19	1	0	0	0	0	1	0	0	0	10325	43	2	3	1246	3	NEK3	13	52726815	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	722319	52726815	62443063	2202	16501											
SUGT1	10910	broad.mit.edu	37	chr13	53250418	53250418	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgggaaaagctagagggGcaaggagatgtgcctacgcc	16	7	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:53250418G>A	uc001vhc.2	+	12	1002	c.777G>A	c.(775-777)GGG>GGA	p.G259G	SUGT1_uc001vha.2_RNA|SUGT1_uc001vhb.2_Silent_p.G227G|SUGT1_uc010thb.1_Silent_p.G171G|SUGT1_uc001vhd.2_Silent_p.G116G	NM_001130912	NP_001124384	Q9Y2Z0	SUGT1_HUMAN	suppressor of G2 allele of SKP1 isoform a	259					mitosis	kinetochore|ubiquitin ligase complex	binding				0		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		AGCTAGAGGGGCAAGGAGATG	0.383													A	53250418	G	A	53250418	2	1	19	1	0	0	0	0	0	0	0	1	15368	1190	42	2		2	SUGT1	13	53250418	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	523603	53250418	61919460	2203	16502											
PCDH8	5100	broad.mit.edu	37	chr13	53421057	53421057	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggttgttctcgcgcacCgacacctcatagaccggccg	13	15	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:53421057C>T	uc001vhi.2	-	1	1718	c.1515G>A	c.(1513-1515)TCG>TCA	p.S505S	PCDH8_uc001vhj.2_Silent_p.S505S	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	505	Extracellular (Potential).|Cadherin 5.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TCTCGCGCACCGACACCTCAT	0.736													T	53421057	C	T	53421057	2	4	19	1	0	0	0	0	0	0	0	1	11517	639	23	1		1	PCDH8	13	53421057	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	170639	53421057	61748821	2204	16503											
DIAPH3	81624	broad.mit.edu	37	chr13	60385030	60385030	+	Frame_Shift_Del	DEL	T	T	-													ttctttttcctctgcttctcTttttttgatattctccttta							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:60385029_60385029CT>C	uc001vht.3	-	24	3275	c.3056_3056AG>G	c.(3055-3057)agafs	p.R1019fs	DIAPH3_uc001vhu.3_Frame_Shift_Del_p.R756fs	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	1019	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTCTGCTTCTCTTTTTTTGAT	0.318													-	60385030	T	-	60385030	7	5	19	1	0	1	0	1	0	0	0	0	4520	1617	56	0	562	0	DIAPH3	13	60385030	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	6963973	60385030	54784848	2205	16504											
TDRD3	81550	broad.mit.edu	37	chr13	61041374	61041374	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttctctttgctttagccTgaacacaccacctggaacta	5	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:61041374T>C	uc001via.2	+	5	865	c.77T>C	c.(76-78)CTG>CCG	p.L26P	TDRD3_uc010aef.2_5'UTR|TDRD3_uc001vhz.3_Missense_Mutation_p.L26P|TDRD3_uc010aeg.2_Missense_Mutation_p.L119P|TDRD3_uc001vib.3_Missense_Mutation_p.L26P	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	26					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TGCTTTAGCCTGAACACACCA	0.274													C	61041374	T	C	61041374	3	2	19	1	0	0	0	0	1	0	0	0	15729	1580	55	3	374	3	TDRD3	13	61041374	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	656344	61041374	54128504	2206	16505											
PCDH9	5101	broad.mit.edu	37	chr13	67800539	67800539	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaggaagtattagacggTggagaaatgacaactgggct	13	4	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:67800539T>C	uc001vik.2	-	2	2726	c.2034A>G	c.(2032-2034)CCA>CCG	p.P678P	PCDH9_uc001vil.2_Silent_p.P678P|PCDH9_uc010thl.1_Silent_p.P678P|PCDH9_uc001vin.3_Silent_p.P678P	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	678	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TATTAGACGGTGGAGAAATGA	0.478													C	67800539	T	C	67800539	2	2	19	1	0	0	0	0	0	0	0	1	11518	1683	59	3		3	PCDH9	13	67800539	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	6759165	67800539	47369339	2207	16506											
UCHL3	7347	broad.mit.edu	37	chr13	76179869	76179869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttttcctccataggatgCcatagaagtttgcaagaagt	8	7	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:76179869C>T	uc001vjq.2	+	9	644	c.614C>T	c.(613-615)GCC>GTC	p.A205V	UCHL3_uc001vjr.2_Missense_Mutation_p.A169V	NM_006002	NP_005993	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3	205					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity				0				GBM - Glioblastoma multiforme(99;0.0125)		CCATAGGATGCCATAGAAGTT	0.318													T	76179869	C	T	76179869	3	4	19	1	0	0	0	0	1	0	0	0	16918	739	26	2	648	2	UCHL3	13	76179869	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	8379330	76179869	38990009	2208	16507											
MYCBP2	23077	broad.mit.edu	37	chr13	77652957	77652957	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaatgacaaaatttcaattAcctgctttattctgcacaaa	3	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:77652957A>G	uc001vkf.2	-	67	11461	c.11370_splice	c.e67+1	p.Q3790_splice	MYCBP2_uc010aev.2_Splice_Site_p.Q3194_splice|MYCBP2_uc001vke.2_Splice_Site_p.Q410_splice	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AATTTCAATTACCTGCTTTAT	0.343													G	77652957	A	G	77652957	5	3	19	1	0	0	0	0	0	0	1	0	10018	405	14	3	2622	3	MYCBP2	13	77652957	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1473088	77652957	37516921	2209	16508											
MYCBP2	23077	broad.mit.edu	37	chr13	77780843	77780843	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggcccttgatcctgttggTaaggcaagttcaggacttag	13	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:77780843T>C	uc001vkf.2	-	25	3511	c.3420A>G	c.(3418-3420)TTA>TTG	p.L1140L	MYCBP2_uc010aev.2_Silent_p.L544L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATCCTGTTGGTAAGGCAAGTT	0.483													C	77780843	T	C	77780843	2	2	19	1	0	0	0	0	0	0	0	1	10018	1635	57	3		3	MYCBP2	13	77780843	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	127886	77780843	37389035	2210	16509											
SCEL	8796	broad.mit.edu	37	chr13	78130819	78130819	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actttcttacaggataacagTtggataaagaaacgccctga	8	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:78130819T>C	uc001vki.2	+	3	302	c.132T>C	c.(130-132)AGT>AGC	p.S44S	SCEL_uc001vkj.2_Silent_p.S44S|SCEL_uc010thx.1_Silent_p.S44S	NM_144777	NP_659001	O95171	SCEL_HUMAN	sciellin isoform 1	44					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			ovary(4)|breast(1)	5		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AGGATAACAGTTGGATAAAGA	0.463													C	78130819	T	C	78130819	2	2	19	1	0	0	0	0	0	0	0	1	13888	1722	60	3		3	SCEL	13	78130819	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	349976	78130819	37039059	2211	16510											
EDNRB	1910	broad.mit.edu	37	chr13	78475267	78475267	+	Frame_Shift_Del	DEL	A	A	-													ttcacaggtcattagtgtatAaaaaaatgcagtgatggcca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:78475267delA	uc001vko.2	-	4	1135	c.877delT	c.(877-879)TATfs	p.Y293fs	EDNRB_uc001vkq.1_Frame_Shift_Del_p.Y293fs|uc001vkn.1_Intron|EDNRB_uc010aez.1_Frame_Shift_Del_p.Y293fs|EDNRB_uc001vkp.1_Frame_Shift_Del_p.Y376fs	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	293	Helical; Name=5; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	ATTAGTGTATAAAAAAATGCA	0.343													-	78475267	A	-	78475267	7	5	19	1	0	1	0	1	0	0	0	0	4920	362	13	0	588	0	EDNRB	13	78475267	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	344448	78475267	36694611	2212	16511											
SLITRK5	26050	broad.mit.edu	37	chr13	88327790	88327790	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattatggggaaatctgtgaCaatgcatgtccttgtgagga	12	5	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:88327790C>T	uc001vln.2	+	2	366	c.147C>T	c.(145-147)GAC>GAT	p.D49D	SLITRK5_uc010tic.1_Intron	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	49	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AAATCTGTGACAATGCATGTC	0.463													T	88327790	C	T	88327790	2	4	19	1	0	0	0	0	0	0	0	1	14746	477	17	4		4	SLITRK5	13	88327790	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	9852523	88327790	26842088	2213	16512											
DCT	1638	broad.mit.edu	37	chr13	95121040	95121041	+	Frame_Shift_Ins	INS	-	-	A													aataataatggagccacacaINSaaaaaatcataaacactgca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:95121039_95121040C>CA	uc010afh.3	-	1	982_983	c.555_556G>TG	c.(553-558)tttgtgfs	p.F185fs	DCT_uc001vlv.4_Frame_Shift_Ins_p.F185fs	NM_001129889	NP_001123361	P40126	TYRP2_HUMAN	Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA.	185					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TGGAGCCACACAAAAAAATCAT	0.45													A	95121041	-	A	95121040	7	5	19	1	0	1	1	0	0	0	0	0	4304	127	5	0	1139	0	DCT	13	95121040	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	6793250	95121040	20048838	2214	16513											
ABCC4	10257	broad.mit.edu	37	chr13	95886989	95886989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcagcaccgtggcataggCgtacgctgtgttcaaagcca	12	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:95886989C>T	uc001vmd.3	-	4	525	c.406G>A	c.(406-408)GCC>ACC	p.A136T	ABCC4_uc010afk.2_Missense_Mutation_p.A136T|ABCC4_uc001vme.2_Missense_Mutation_p.A136T|ABCC4_uc010tih.1_Intron|ABCC4_uc001vmf.2_Missense_Mutation_p.A93T|ABCC4_uc010afl.1_Missense_Mutation_p.A93T|ABCC4_uc010afm.1_Missense_Mutation_p.A149T	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	136	Helical; (Potential).|ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GTGGCATAGGCGTACGCTGTG	0.398													T	95886989	C	T	95886989	3	4	19	1	0	0	0	0	1	0	0	0	55	768	27	1	3732	1	ABCC4	13	95886989	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	765949	95886989	19282889	2215	16514											
MBNL2	10150	broad.mit.edu	37	chr13	97995277	97995277	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcctttaacagcccacttTccctgtaggtcccgcgatag	7	15	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:97995277T>C	uc010aft.2	+	4	1163	c.347T>C	c.(346-348)TTC>TCC	p.F116S	MBNL2_uc001vmz.2_Missense_Mutation_p.F116S|MBNL2_uc001vna.2_Missense_Mutation_p.F116S|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Intron	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	muscleblind-like 2 isoform 1	116					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding				0	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CAGCCCACTTTCCCTGTAGGT	0.418													C	97995277	T	C	97995277	3	2	19	1	0	0	0	0	1	0	0	0	9354	1783	62	3	357	3	MBNL2	13	97995277	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2108288	97995277	17174601	2216	16515											
IPO5	3843	broad.mit.edu	37	chr13	98658469	98658469	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tactgcagaagaaaaatttgTcccctactatgatttattta	5	7	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:98658469T>A	uc001vnf.1	+	14	1648	c.1583T>A	c.(1582-1584)GTC>GAC	p.V528D	IPO5_uc001vne.2_Missense_Mutation_p.V546D|IPO5_uc010tik.1_Missense_Mutation_p.V403D|IPO5_uc010til.1_Missense_Mutation_p.V468D|IPO5_uc001vng.1_Missense_Mutation_p.V149D	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	528					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						GAAAAATTTGTCCCCTACTAT	0.393													A	98658469	T	A	98658469	3	1	19	1	0	0	0	0	1	0	0	0	7796	1667	58	5	1695	5	IPO5	13	98658469	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	663192	98658469	16511409	2217	16516											
GPR183	1880	broad.mit.edu	37	chr13	99947711	99947711	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatttctcagtgagtgggTtttgtttggcagttctgaag	13	5	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:99947711T>C	uc001vog.2	-	2	863	c.689A>G	c.(688-690)AAC>AGC	p.N230S	UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron	NM_004951	NP_004942	P32249	GP183_HUMAN	EBV-induced G protein-coupled receptor 2	230	Cytoplasmic (Potential).				humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0						AGTGAGTGGGTTTTGTTTGGC	0.383													C	99947711	T	C	99947711	3	2	19	1	0	0	0	0	1	0	0	0	6678	1725	60	3	400	3	GPR183	13	99947711	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1289242	99947711	15222167	2218	16517											
TM9SF2	9375	broad.mit.edu	37	chr13	100196200	100196200	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaagggatgctgctatcagtCtttctaggatccgggacaca	11	9	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:100196200C>T	uc001voj.1	+	10	1234	c.1101C>T	c.(1099-1101)GTC>GTT	p.V367V	TM9SF2_uc010afz.1_Silent_p.V202V	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2 precursor	367	Cytoplasmic (Potential).				transport	endosome membrane|integral to plasma membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TGCTATCAGTCTTTCTAGGAT	0.368													T	100196200	C	T	100196200	2	4	19	1	0	0	0	0	0	0	0	1	15975	900	32	4		4	TM9SF2	13	100196200	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	248489	100196200	14973678	2219	16518											
PCCA	5095	broad.mit.edu	37	chr13	100909900	100909900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggtgggaaaggcatgcGcattgcttgggatgatgaag	18	4	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:100909900G>A	uc001voo.2	+	9	727	c.689G>A	c.(688-690)CGC>CAC	p.R230H	PCCA_uc010aga.2_Missense_Mutation_p.R204H|PCCA_uc010tiz.1_Missense_Mutation_p.R230H	NM_000282	NP_000273	P05165	PCCA_HUMAN	propionyl-Coenzyme A carboxylase, alpha	230	ATP-grasp.|Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			skin(2)	2	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AAAGGCATGCGCATTGCTTGG	0.443													A	100909900	G	A	100909900	3	1	19	1	0	0	0	0	1	0	0	0	11504	1087	38	1	723	1	PCCA	13	100909900	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	713700	100909900	14259978	2220	16519											
NALCN	259232	broad.mit.edu	37	chr13	101797171	101797171	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaccatttgaggtctgTttggaaatttttcaaagatt	7	5	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:101797171T>C	uc001vox.1	-	16	2105	c.1916A>G	c.(1915-1917)AAC>AGC	p.N639S	NALCN_uc001voy.2_Missense_Mutation_p.N354S	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	639	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGAGGTCTGTTTGGAAATTT	0.333													C	101797171	T	C	101797171	3	2	19	1	0	0	0	0	1	0	0	0	10148	1725	60	3	3416	3	NALCN	13	101797171	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	887271	101797171	13372707	2221	16520											
FGF14	2259	broad.mit.edu	37	chr13	102375275	102375275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccccaggcttcgggaccGtttccccaacatcatgcaaa	7	16	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:102375275G>A	uc001vpe.2	-	5	650	c.650C>T	c.(649-651)ACG>ATG	p.T217M	FGF14_uc001vpf.2_Missense_Mutation_p.T222M|FGF14_uc001vpd.1_5'Flank	NM_004115	NP_004106	Q92915	FGF14_HUMAN	fibroblast growth factor 14 isoform 1A	217					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			ovary(2)|lung(1)|large_intestine(1)	4	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTCGGGACCGTTTCCCCAAC	0.468													A	102375275	G	A	102375275	3	1	19	1	0	0	0	0	1	0	0	0	5843	1145	40	1	97	1	FGF14	13	102375275	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	578104	102375275	12794603	2222	16521											
ERCC5	2073	broad.mit.edu	37	chr13	103474505	103474505	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaataaaacagcaggagaAactggtaggtaaacatatag	10	4	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:103474505A>C	uc001vpu.1	+	5	1019	c.897A>C	c.(895-897)GAA>GAC	p.E299D	BIVM_uc001vps.2_Missense_Mutation_p.E299D|BIVM_uc010agc.2_Missense_Mutation_p.E70D|BIVM_uc001vpv.2_Missense_Mutation_p.E70D	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	Error:Variant_position_missing_in_P28715_after_alignment					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CAGCAGGAGAAACTGGTAGGT	0.289			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				C	103474505	A	C	103474505	3	2	19	1	0	0	0	0	1	0	0	0	5216	11	1	5		5	ERCC5	13	103474505	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1099230	103474505	11695373	2223	16522											
FAM155A	728215	broad.mit.edu	37	chr13	108518350	108518350	+	Frame_Shift_Del	DEL	C	C	-													ctgcccgtcccccccggccgCcccccgactccagttcctgg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:108518349_108518349GC>G	uc001vql.3	-	0	1112	c.596_596GC>C	c.(595-597)gcgfs	p.A199fs		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	199						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCCCCCGGCCGCCCCCCGACT	0.622													-	108518350	C	-	108518350	7	5	19	1	0	1	0	1	0	0	0	0	5465	739	26	0	793	0	FAM155A	13	108518350	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	5043845	108518350	6651528	2224	16523											
RAB20	55647	broad.mit.edu	37	chr13	111176256	111176256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttttataaagggccaccGcatcctccagctgcacctgc	7	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:111176256G>A	uc001vqy.2	-	2	666	c.461C>T	c.(460-462)GCG>GTG	p.A154V		NM_017817	NP_060287	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	154					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding				0	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			AAGGGCCACCGCATCCTCCAG	0.592													A	111176256	G	A	111176256	3	1	19	1	0	0	0	0	1	0	0	0	12907	1087	38	1	247	1	RAB20	13	111176256	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2657906	111176256	3993622	2225	16524											
F7	2155	broad.mit.edu	37	chr13	113770010	113770010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctgtgtgaacgagaacgGcggctgtgagcagtactgca	15	8	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:113770010G>A	uc001vsv.2	+	6	518	c.467G>A	c.(466-468)GGC>GAC	p.G156D	F7_uc010agp.1_Missense_Mutation_p.G149D|F7_uc001vsw.2_Missense_Mutation_p.G134D|F7_uc010tjt.1_Missense_Mutation_p.G87D	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	156	EGF-like 2.		G -> S (in FA7D).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	AACGAGAACGGCGGCTGTGAG	0.652													A	113770010	G	A	113770010	3	1	19	1	0	0	0	0	1	0	0	0	5349	1203	42	2	489	2	F7	13	113770010	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2593754	113770010	1399868	2226	16525											
F7	2155	broad.mit.edu	37	chr13	113772918	113772918	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacgttctctgagaggacgCtggccttcgtgcgcttctca	13	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:113772918C>A	uc001vsv.2	+	9	1048	c.997C>A	c.(997-999)CTG>ATG	p.L333M	F7_uc001vsw.2_Missense_Mutation_p.L311M|F7_uc010tjt.1_Missense_Mutation_p.L264M	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	333	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	TGAGAGGACGCTGGCCTTCGT	0.672													A	113772918	C	A	113772918	3	1	19	1	0	0	0	0	1	0	0	0	5349	796	28	5	1031	5	F7	13	113772918	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2908	113772918	1396960	2227	16526											
LAMP1	3916	broad.mit.edu	37	chr13	113965127	113965127	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaacaacgtgaccgtaacGctccatgatgccaccatcca	7	14	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:113965127G>A	uc001vtm.1	+	4	788	c.507G>A	c.(505-507)ACG>ACA	p.T169T	LAMP1_uc010tka.1_Intron	NM_005561	NP_005552	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	169	Lumenal (Potential).|First lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				central_nervous_system(2)	2	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TGACCGTAACGCTCCATGATG	0.517													A	113965127	G	A	113965127	2	1	19	1	0	0	0	0	0	0	0	1	8617	1074	38	1		1	LAMP1	13	113965127	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	192209	113965127	1204751	2228	16527											
OR4K1	79544	broad.mit.edu	37	chr14	20403942	20403942	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagtctatgtgacatcagtGctaggcaatgtcttaattat	8	6	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:20403942G>A	uc001vwj.1	+	1	117	c.117G>A	c.(115-117)GTG>GTA	p.V39V		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	39	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGACATCAGTGCTAGGCAATG	0.363													A	20403942	G	A	20403942	2	1	19	1	0	0	0	0	0	0	0	1	11067	1306	46	2		2	OR4K1	14	20403942	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08		20403942	86945598	2229	16528											
CCNB1IP1	57820	broad.mit.edu	37	chr14	20784646	20784646	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtttgatgcgacactttcGataattacaaagcagcatgt	9	7	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:20784646G>A	uc001vwv.2	-	5	686	c.37C>T	c.(37-39)CGA>TGA	p.R13*	CCNB1IP1_uc001vww.2_Nonsense_Mutation_p.R13*|CCNB1IP1_uc001vwx.2_Nonsense_Mutation_p.R13*|CCNB1IP1_uc001vwy.2_Nonsense_Mutation_p.R13*|CCNB1IP1_uc001vwz.2_Nonsense_Mutation_p.R13*|CCNB1IP1_uc010ahh.1_RNA	NM_182851	NP_878271	Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1 isoform 3	13	RING-type; atypical.					chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	soft_tissue(2)|ovary(1)	3	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		CGACACTTTCGATAATTACAA	0.463			T	HMGA2	leiomyoma								A	20784646	G	A	20784646	4	1	19	1	0	0	0	0	0	1	0	0	2912	1066	37	1	808	1	CCNB1IP1	14	20784646	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	380704	20784646	86564894	2230	16529											
TEP1	7011	broad.mit.edu	37	chr14	20840980	20840980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggacaaaaaaggtgtgtgCcgaggaccagatcagagcac	14	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:20840980C>T	uc001vxe.2	-	49	7028	c.6988G>A	c.(6988-6990)GCA>ACA	p.A2330T	TEP1_uc010ahj.1_RNA|TEP1_uc010ahk.2_Missense_Mutation_p.A1673T|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.A2222T|TEP1_uc010tlh.1_Intron	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2330	WD 17.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AAGGTGTGTGCCGAGGACCAG	0.512													T	20840980	C	T	20840980	3	4	19	1	0	0	0	0	1	0	0	0	15756	739	26	2	923	2	TEP1	14	20840980	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	56334	20840980	86508560	2231	16530											
OSGEP	55644	broad.mit.edu	37	chr14	20917404	20917404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccccaaagatacggtaacGatgttccgagtatgcaatca	8	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:20917404G>A	uc001vxf.2	-	4	789	c.433C>T	c.(433-435)CGT>TGT	p.R145C		NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	145					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding				0	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		ATACGGTAACGATGTTCCGAG	0.463													A	20917404	G	A	20917404	3	1	19	1	0	0	0	0	1	0	0	0	11287	1058	37	1	606	1	OSGEP	14	20917404	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	76424	20917404	86432136	2232	16531											
FLJ10357	55701	broad.mit.edu	37	chr14	21549794	21549794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcaccttccaggagatgCgggccctggccctggacctg	14	16	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:21549794C>T	uc001vzp.2	+	14	2796	c.2767C>T	c.(2767-2769)CGG>TGG	p.R923W	FLJ10357_uc001vzo.1_Missense_Mutation_p.R2W|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.R209W	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	923					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		CCAGGAGATGCGGGCCCTGGC	0.721													T	21549794	C	T	21549794	3	4	19	1	0	0	0	0	1	0	0	0	5926	759	27	1	2821	1	FLJ10357	14	21549794	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	632390	21549794	85799746	2233	16532											
CHD8	57680	broad.mit.edu	37	chr14	21883981	21883982	+	In_Frame_Ins	INS	-	-	TCT													tggaccagttacatccacctINScttcttcttcttcatcatct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:21883980_21883981C>CTCT	uc001war.2	-	4	1867_1868	c.1802_1803G>AGAG	c.(1801-1803)gag>gAGAG	p.E601E	CHD8_uc001was.2_In_Frame_Ins_p.E322E	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	601					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTACATCCACCTCTTCTTCTTC	0.436													TCT	21883982	-	TCT	21883981	7	5	19	1	0	1	1	0	0	0	0	0	3331	1551	54	0	6075	0	CHD8	14	21883981	In_Frame_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	334187	21883981	85465559	2234	16533											
TOX4	9878	broad.mit.edu	37	chr14	21961331	21961331	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaagtagtcctgagcggcCtatgaacaacagccctgagg	13	10	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:21961331C>A	uc001waz.2	+	7	1659	c.1556C>A	c.(1555-1557)CCT>CAT	p.P519H	TOX4_uc001way.2_Missense_Mutation_p.P389H|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Missense_Mutation_p.P496H|TOX4_uc010tlv.1_Missense_Mutation_p.P389H	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	519	Gln/Pro-rich.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			ovary(1)	1	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CCTGAGCGGCCTATGAACAAC	0.502													A	21961331	C	A	21961331	3	1	19	1	0	0	0	0	1	0	0	0	16377	681	24	5	1582	5	TOX4	14	21961331	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	77350	21961331	85388209	2235	16534											
OR4E2	26686	broad.mit.edu	37	chr14	22134094	22134094	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggccagacaccagcttctcCattgacaaggtggtgtctgt	11	12	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:22134094C>A	uc010tmd.1	+	1	798	c.798C>A	c.(796-798)TCC>TCA	p.S266S		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E,	266	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CCAGCTTCTCCATTGACAAGG	0.507													A	22134094	C	A	22134094	2	1	19	1	0	0	0	0	0	0	0	1	11060	581	21	5		5	OR4E2	14	22134094	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	172763	22134094	85215446	2236	16535											
PABPN1	8106	broad.mit.edu	37	chr14	23777114	23777114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccgctgcaccaagccatGcgggcagctggagatgagtt	14	12	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:23777114G>A	uc001wjh.3	+	3	326	c.138G>A	c.(136-138)ATG>ATA	p.M46I	BCL2L2_uc001wjg.3_Missense_Mutation_p.M46I|BCL2L2_uc001wji.3_Missense_Mutation_p.M46I	NM_004643	NP_004634	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle	cytoplasm|nucleoplasm|ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			ovary(2)	2	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ACCAAGCCATGCGGGCAGCTG	0.617													A	23777114	G	A	23777114	3	1	19	1	0	0	0	0	1	0	0	0	11368	1319	46	2		2	PABPN1	14	23777114	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1643020	23777114	83572426	2237	16536											
EFS	10278	broad.mit.edu	37	chr14	23829242	23829242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagggcggtggggggcacatCgtagacctgcggaaaggagt	20	7	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:23829242C>T	uc001wjo.2	-	4	1053	c.445G>A	c.(445-447)GAT>AAT	p.D149N	EFS_uc001wjp.2_Missense_Mutation_p.D56N|EFS_uc010tnm.1_Missense_Mutation_p.D56N	NM_005864	NP_005855	O43281	EFS_HUMAN	embryonal Fyn-associated substrate isoform 1	149	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			large_intestine(1)	1	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGGGGCACATCGTAGACCTGC	0.642													T	23829242	C	T	23829242	3	4	19	1	0	0	0	0	1	0	0	0	4959	884	31	1	1252	1	EFS	14	23829242	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	52128	23829242	83520298	2238	16537											
LRRC16B	90668	broad.mit.edu	37	chr14	24531766	24531766	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagagctctaccattcccAcaagagcctggtaaggcttc	9	13	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:24531766A>G	uc001wlj.2	+	28	2715	c.2558A>G	c.(2557-2559)CAC>CGC	p.H853R	LRRC16B_uc001wlk.2_5'UTR	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	853										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		TACCATTCCCACAAGAGCCTG	0.577													G	24531766	A	G	24531766	3	3	19	1	0	0	0	0	1	0	0	0	8972	159	6	3	2668	3	LRRC16B	14	24531766	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	702524	24531766	82817774	2239	16538											
PCK2	5106	broad.mit.edu	37	chr14	24569353	24569353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgatggtggcgtgtactggGagggcattgaccagcctctt	16	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:24569353G>A	uc001wlt.2	+	7	1297	c.1165G>A	c.(1165-1167)GAG>AAG	p.E389K	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Missense_Mutation_p.E401K|PCK2_uc001wls.2_Missense_Mutation_p.E389K|PCK2_uc010tnw.1_Missense_Mutation_p.E255K|PCK2_uc010ald.2_3'UTR|PCK2_uc010ale.2_3'UTR|PCK2_uc010tnx.1_Missense_Mutation_p.E255K|PCK2_uc001wlu.3_Missense_Mutation_p.E255K	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	389					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)		CGTGTACTGGGAGGGCATTGA	0.557													A	24569353	G	A	24569353	3	1	19	1	0	0	0	0	1	0	0	0	11582	1175	41	4	1191	4	PCK2	14	24569353	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	37587	24569353	82780187	2240	16539											
DCAF11	80344	broad.mit.edu	37	chr14	24587991	24587991	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatctatggtgagggagatAcacacactgccctggatctc	10	10	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:24587991A>G	uc001wlv.2	+	8	1037	c.757A>G	c.(757-759)ACA>GCA	p.T253A	DCAF11_uc001wlw.2_Missense_Mutation_p.T253A|DCAF11_uc001wlz.2_Missense_Mutation_p.T153A|DCAF11_uc001wly.2_Missense_Mutation_p.T209A|DCAF11_uc001wme.2_Missense_Mutation_p.T213A|DCAF11_uc010tny.1_Missense_Mutation_p.T120A|DCAF11_uc001wmd.2_Missense_Mutation_p.T253A|DCAF11_uc001wmc.2_Missense_Mutation_p.T153A|DCAF11_uc001wmb.3_Missense_Mutation_p.T227A|DCAF11_uc001wma.3_Missense_Mutation_p.T253A	NM_001163484	NP_001156956	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11 isoform 1	253	WD 2.					CUL4 RING ubiquitin ligase complex	protein binding				0						TGAGGGAGATACACACACTGC	0.463													G	24587991	A	G	24587991	3	3	19	1	0	0	0	0	1	0	0	0	4262	391	14	3	783	3	DCAF11	14	24587991	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	18638	24587991	82761549	2241	16540											
DCAF11	80344	broad.mit.edu	37	chr14	24590142	24590142	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggaaggcatggaagcttcAcgccaggctgccacacagca	13	13	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:24590142A>G	uc001wlv.2	+	12	1468	c.1188A>G	c.(1186-1188)TCA>TCG	p.S396S	DCAF11_uc001wlw.2_Silent_p.S396S|DCAF11_uc001wlz.2_Silent_p.S296S|DCAF11_uc001wly.2_Silent_p.S352S|DCAF11_uc001wme.2_Silent_p.S356S|DCAF11_uc010tny.1_Silent_p.S263S|DCAF11_uc001wmd.2_Silent_p.S396S|DCAF11_uc001wmc.2_Silent_p.S296S|DCAF11_uc001wmb.3_Silent_p.S370S|DCAF11_uc001wma.3_Silent_p.S396S	NM_001163484	NP_001156956	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11 isoform 1	396						CUL4 RING ubiquitin ligase complex	protein binding				0						TGGAAGCTTCACGCCAGGCTG	0.527													G	24590142	A	G	24590142	2	3	19	1	0	0	0	0	0	0	0	1	4262	146	6	3		3	DCAF11	14	24590142	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2151	24590142	82759398	2242	16541											
IRF9	10379	broad.mit.edu	37	chr14	24633834	24633834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatccccagactactcactgCtgctcaccttcatctacaac	3	17	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:24633834C>T	uc001wmq.2	+	7	788	c.661C>T	c.(661-663)CTG>TTG	p.L221L	RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_Intron	NM_006084	NP_006075	Q00978	IRF9_HUMAN	interferon-stimulated transcription factor 3,	221					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00853)		CTACTCACTGCTGCTCACCTT	0.637													T	24633834	C	T	24633834	2	4	19	1	0	0	0	0	0	0	0	1	7837	796	28	2		2	IRF9	14	24633834	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	43692	24633834	82715706	2243	16542											
TSSK4	283629	broad.mit.edu	37	chr14	24675813	24675813	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggaactggctcagggtggTgatgtccttgaatggatcca	14	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:24675813T>C	uc001wng.2	+	2	492	c.324T>C	c.(322-324)GGT>GGC	p.G108G	TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.2_Silent_p.G32G|TSSK4_uc001wnf.2_5'UTR|TSSK4_uc001wnh.2_Silent_p.G108G	NM_174944	NP_777604	Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	108	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity				0				GBM - Glioblastoma multiforme(265;0.018)		CTCAGGGTGGTGATGTCCTTG	0.542													C	24675813	T	C	24675813	2	2	19	1	0	0	0	0	0	0	0	1	16668	1683	59	3		3	TSSK4	14	24675813	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	41979	24675813	82673727	2244	16543											
SDR39U1	56948	broad.mit.edu	37	chr14	24910013	24910013	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaccaccacctggcgtgTagaatctccaggaagcctgg	12	14	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:24910013T>C	uc001wpm.2	-	5	480	c.448A>G	c.(448-450)ACA>GCA	p.T150A	KHNYN_uc010tpc.1_3'UTR|KHNYN_uc001wph.3_3'UTR|KHNYN_uc010alw.2_3'UTR|SDR39U1_uc001wpi.2_Missense_Mutation_p.T42A|SDR39U1_uc001wpj.2_Missense_Mutation_p.T68A|SDR39U1_uc001wpk.2_Missense_Mutation_p.T42A|SDR39U1_uc001wpl.2_Missense_Mutation_p.T95A|SDR39U1_uc001wpn.2_5'UTR|uc001wpo.1_5'Flank	NM_020195	NP_064580	Q9NRG7	D39U1_HUMAN	short chain dehydrogenase/reductase family 39U,	176							binding			pancreas(1)	1						ACCTGGCGTGTAGAATCTCCA	0.552													C	24910013	T	C	24910013	3	2	19	1	0	0	0	0	1	0	0	0	13972	1638	57	3	441	3	SDR39U1	14	24910013	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	234200	24910013	82439527	2245	16544											
CTSG	1511	broad.mit.edu	37	chr14	25044010	25044010	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgcccagggtgacattTatattgctgcaaaagcaaga	12	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:25044010T>C	uc001wpq.2	-	3	247	c.210A>G	c.(208-210)ATA>ATG	p.I70M		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	70	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2				GBM - Glioblastoma multiforme(265;0.0269)		GGGTGACATTTATATTGCTGC	0.567													C	25044010	T	C	25044010	3	2	19	1	0	0	0	0	1	0	0	0	4035	1744	61	3	569	3	CTSG	14	25044010	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	133997	25044010	82305530	2246	16545											
STXBP6	29091	broad.mit.edu	37	chr14	25288385	25288385	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacgctgtcagcagctgaaTggaggatgctgtttcctgaa	12	9	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:25288385T>C	uc001wpu.2	-	5	1182	c.467A>G	c.(466-468)CAT>CGT	p.H156R	STXBP6_uc001wpv.2_Missense_Mutation_p.H156R|STXBP6_uc001wpw.2_Missense_Mutation_p.H156R|STXBP6_uc001wpx.1_RNA|STXBP6_uc001wpt.2_Missense_Mutation_p.H54R	NM_014178	NP_054897	Q8NFX7	STXB6_HUMAN	amisyn	156	v-SNARE coiled-coil homology.				vesicle-mediated transport	cytoplasm|integral to membrane					0				GBM - Glioblastoma multiforme(265;0.0296)		AGCAGCTGAATGGAGGATGCT	0.562													C	25288385	T	C	25288385	3	2	19	1	0	0	0	0	1	0	0	0	15357	1464	51	3	173	3	STXBP6	14	25288385	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	244375	25288385	82061155	2247	16546											
FOXG1	2290	broad.mit.edu	37	chr14	29237197	29237197	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acaatctgtccctcaacaagTgcttcgtgaaggtgccgcgc	10	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:29237197T>A	uc001wqe.2	+	1	911	c.712T>A	c.(712-714)TGC>AGC	p.C238S		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	238	Fork-head.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCTCAACAAGTGCTTCGTGAA	0.592													A	29237197	T	A	29237197	3	1	19	1	0	0	0	0	1	0	0	0	6007	1696	59	5	714	5	FOXG1	14	29237197	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	3948812	29237197	78112343	2248	16547											
HECTD1	25831	broad.mit.edu	37	chr14	31576889	31576891	+	In_Frame_Del	DEL	CTT	CTT	-													tgtgggtcccaagccagttcCttcttctcctaaaaattcaa							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:31576889_31576891delCTT	uc001wrc.1	-	37	6989_6991	c.6500_6502delAAG	c.(6499-6504)GAAGGA>GGA	p.E2167del	HECTD1_uc001wra.1_In_Frame_Del_p.E293del|HECTD1_uc001wrb.1_In_Frame_Del_p.E293del	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	2167	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AAGCCAGTTCCTTCTTCTCCTAA	0.355													-	31576891	CTT	-	31576889	7	5	19	1	0	1	0	1	0	0	0	0	7039	690	24	0	1358	0	HECTD1	14	31576889	In_Frame_Del	DEL	CTT	TCGA-BR-4361-01A-01D-1158-08	2339692	31576889	75772651	2249	16548											
FOXA1	3169	broad.mit.edu	37	chr14	38061905	38061907	+	In_Frame_Del	DEL	GGA	GGA	-													ttcatgttgctgaccgggacGgaggagtaggcctggagtgg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:38061904_38061906CGGA>C	uc001wuf.3	-	1	395_397	c.83_85TCCG>G	c.(82-87)tccgtc>tGtc	p.28_29SV>C	FOXA1_uc010tpz.2_5'UTR	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	28					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CTGACCGGGACGGAGGAGTAGGC	0.635													-	38061907	GGA	-	38061905	7	5	19	1	0	1	0	1	0	0	0	0	5989	1103	39	0	1338	0	FOXA1	14	38061905	In_Frame_Del	DEL	GGA	TCGA-BR-4361-01A-01D-1158-08	6485016	38061905	69287635	2250	16549											
FSCB	84075	broad.mit.edu	37	chr14	44976167	44976167	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttttctctattacatcAgtttgctgggatttgcctac	6	9	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:44976167A>G	uc001wvn.2	-	1	333	c.24T>C	c.(22-24)ACT>ACC	p.T8T		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	8						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		CTATTACATCAGTTTGCTGGG	0.423													G	44976167	A	G	44976167	2	3	19	1	0	0	0	0	0	0	0	1	6066	175	7	3		3	FSCB	14	44976167	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	6914262	44976167	62373373	2251	16550											
C14orf28	122525	broad.mit.edu	37	chr14	45369724	45369725	+	Frame_Shift_Ins	INS	-	-	G													tgtaggcctgttcttccttgINSggggggtgtttttactatca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:45369723_45369724T>TG	uc001wvo.3	+	1	351_352	c.85_86T>TG	c.(85-87)tggfs	p.W29fs	C14orf28_uc001wvp.1_Frame_Shift_Ins_p.W29fs	NM_001017923	NP_001017923	Q4W4Y0	CN028_HUMAN	Homo sapiens chromosome 14 open reading frame 28 (C14orf28), mRNA.	29										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TGTTCTTCCTTGGGGGGGTGTT	0.376													G	45369725	-	G	45369724	7	5	19	1	0	1	1	0	0	0	0	0	1770	1357	47	0	88	0	C14orf28	14	45369724	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	393557	45369724	61979816	2252	16551											
FAM179B	23116	broad.mit.edu	37	chr14	45431635	45431636	+	Frame_Shift_Ins	INS	-	-	C													caaccctgcatggcggctgcINScccctccgcgctgcttctgc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:45431634_45431635G>GC	uc001wvw.3	+	0	219_220	c.10_11G>GC	c.(10-12)gccfs	p.A4fs	FAM179B_uc001wvv.3_Frame_Shift_Ins_p.A4fs|FAM179B_uc010anc.3_Non-coding_Transcript|KLHL28_uc001wvq.3_5'Flank|KLHL28_uc001wvr.3_5'Flank|FAM179B_uc010anb.1_Frame_Shift_Ins_p.A4fs|FAM179B_uc001wvu.3_Frame_Shift_Ins_p.A4fs	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	4							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CATGGCGGCTGCCCCCTCCGCG	0.619													C	45431636	-	C	45431635	7	5	19	1	0	1	1	0	0	0	0	0	5506	739	26	0	13	0	FAM179B	14	45431635	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	61911	45431635	61917905	2253	16552											
FAM179B	23116	broad.mit.edu	37	chr14	45481239	45481240	+	Frame_Shift_Ins	INS	-	-	A													aagactttcttctgcaaagaINSaaaaaatttctcatattgct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:45481238_45481239G>GA	uc001wvw.3	+	6	3407_3408	c.3198_3199G>GA	c.(3196-3201)aagaaafs	p.K1066fs	FAM179B_uc001wvv.3_Frame_Shift_Ins_p.K1066fs|FAM179B_uc010anc.3_Non-coding_Transcript	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	1066	Ser-rich.						binding	p.K1066E(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CTTCTGCAAAGAAAAAAATTTC	0.282													A	45481240	-	A	45481239	7	5	19	1	0	1	1	0	0	0	0	0	5506	247	9	0	3225	0	FAM179B	14	45481239	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	49604	45481239	61868301	2254	16553											
PRPF39	55015	broad.mit.edu	37	chr14	45583766	45583766	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatctacacagatgattgaTggtgatttacaggcaaacca	8	8	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:45583766T>C	uc001wvz.3	+	13	2072	c.1902T>C	c.(1900-1902)GAT>GAC	p.D634D	PRPF39_uc001wvy.3_Silent_p.D513D|PRPF39_uc010and.2_Silent_p.D424D|PRPF39_uc001wwa.1_Silent_p.D238D	NM_017922	NP_060392	Q86UA1	PRP39_HUMAN	PRP39 pre-mRNA processing factor 39 homolog	634					mRNA processing|RNA splicing	nucleus	binding			ovary(1)|breast(1)	2						AGATGATTGATGGTGATTTAC	0.328													C	45583766	T	C	45583766	2	2	19	1	0	0	0	0	0	0	0	1	12569	1461	51	3		3	PRPF39	14	45583766	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	102527	45583766	61765774	2255	16554											
FKBP3	2287	broad.mit.edu	37	chr14	45587241	45587241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaggatacttggcatcagGctgtcctttctttccgtaag	9	9	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:45587241G>A	uc010tqf.1	-	6	683	c.610C>T	c.(610-612)CCT>TCT	p.P204S		NM_002013	NP_002004	Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	204	PPIase FKBP-type.				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity				0						TTGGCATCAGGCTGTCCTTTC	0.408													A	45587241	G	A	45587241	3	1	19	1	0	0	0	0	1	0	0	0	5909	1203	42	2	72	2	FKBP3	14	45587241	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3475	45587241	61762299	2256	16555											
FKBP3	2287	broad.mit.edu	37	chr14	45599093	45599093	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actttacttatactttcagtAcccttaaaacgctgtaagga	5	9	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:45599093A>G	uc010tqf.1	-	3	295	c.222T>C	c.(220-222)GGT>GGC	p.G74G		NM_002013	NP_002004	Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	74					protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity				0						TACTTTCAGTACCCTTAAAAC	0.373													G	45599093	A	G	45599093	2	3	19	1	0	0	0	0	0	0	0	1	5909	378	14	3		3	FKBP3	14	45599093	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	11852	45599093	61750447	2257	16556											
C14orf106	55320	broad.mit.edu	37	chr14	45700487	45700487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttggtcttttccctgTtcttttcaccagccctttaa	5	11	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:45700487T>C	uc001wwf.2	-	8	1910	c.1451A>G	c.(1450-1452)AAC>AGC	p.N484S	C14orf106_uc010anh.2_RNA	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	484					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						CTTTTCCCTGTTCTTTTCACC	0.299													C	45700487	T	C	45700487	3	2	19	1	0	0	0	0	1	0	0	0	1738	1725	60	3	1987	3	C14orf106	14	45700487	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	101394	45700487	61649053	2258	16557											
RPL10L	140801	broad.mit.edu	37	chr14	47120567	47120567	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtggacccgggctacagTaccctggggttttccaaagg	13	10	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:47120567T>C	uc001wwg.2	-	1	462	c.373A>G	c.(373-375)ACT>GCT	p.T125A		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	125					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						CGGGCTACAGTACCCTGGGGT	0.547													C	47120567	T	C	47120567	3	2	19	1	0	0	0	0	1	0	0	0	13556	1638	57	3	275	3	RPL10L	14	47120567	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1420080	47120567	60228973	2259	16558											
RPL10L	140801	broad.mit.edu	37	chr14	47120671	47120671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacatggaagggatggagcCgcactcgcatgtgaaagcca	14	9	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:47120671C>T	uc001wwg.2	-	1	358	c.269G>A	c.(268-270)CGG>CAG	p.R90Q		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	90					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						GGGATGGAGCCGCACTCGCAT	0.537													T	47120671	C	T	47120671	3	4	19	1	0	0	0	0	1	0	0	0	13556	652	23	1	379	1	RPL10L	14	47120671	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	104	47120671	60228869	2260	16559											
SAV1	60485	broad.mit.edu	37	chr14	51132299	51132299	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acagatatcagttcgtcttgGaattgttggaccatgccgga	11	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:51132299G>C	uc001wyg.1	-	3	294	c.133C>G	c.(133-135)CCA>GCA	p.P45A	SAV1_uc001wyh.1_Missense_Mutation_p.P45A	NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	WW45 protein	45					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)	1	all_epithelial(31;0.000611)|Breast(41;0.0333)					GTTCGTCTTGGAATTGTTGGA	0.358													C	51132299	G	C	51132299	3	2	19	1	0	0	0	0	1	0	0	0	13856	1174	41	5	1034	5	SAV1	14	51132299	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	4011628	51132299	56217241	2261	16560											
NIN	51199	broad.mit.edu	37	chr14	51219431	51219431	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaaatccaattgttggttTttgatttttaattctgaaat	5	5	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:51219431T>C	uc001wym.2	-	21	4946	c.4755A>G	c.(4753-4755)AAA>AAG	p.K1585K	NIN_uc001wyi.2_Silent_p.K1585K|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Silent_p.K872K|NIN_uc010tqp.1_Silent_p.K1591K|NIN_uc001wyo.2_Silent_p.K1585K	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1585	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					ATTGTTGGTTTTTGATTTTTA	0.269			T	PDGFRB	MPD								C	51219431	T	C	51219431	2	2	19	1	0	0	0	0	0	0	0	1	10417	1838	64	3		3	NIN	14	51219431	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	87132	51219431	56130109	2262	16561											
NIN	51199	broad.mit.edu	37	chr14	51224055	51224055	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcatcttcagtttctttttTagcacagaaacatcaaaaag	5	8	4	1	rs34636266		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:51224055T>A	uc001wym.2	-	18	3884	c.3693A>T	c.(3691-3693)CTA>CTT	p.L1231L	NIN_uc001wyi.2_Silent_p.L1231L|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Silent_p.L1237L|NIN_uc001wyo.2_Silent_p.L1231L	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1231	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					GTTTCTTTTTTAGCACAGAAA	0.413			T	PDGFRB	MPD								A	51224055	T	A	51224055	2	1	19	1	0	0	0	0	0	0	0	1	10417	1741	61	5		5	NIN	14	51224055	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	4624	51224055	56125485	2263	16562											
ABHD12B	145447	broad.mit.edu	37	chr14	51347272	51347272	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaattattgtttatcttcaTggcagtgcagaacacaggtc	8	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:51347272T>C	uc001wys.2	+	4	453	c.438T>C	c.(436-438)CAT>CAC	p.H146H	ABHD12B_uc001wyq.2_Silent_p.H39H|ABHD12B_uc001wyr.2_Silent_p.H69H|ABHD12B_uc010any.2_RNA	NM_181533	NP_853511	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B isoform b	146							hydrolase activity			breast(1)	1	all_epithelial(31;0.00481)|Breast(41;0.148)					TTTATCTTCATGGCAGTGCAG	0.507													C	51347272	T	C	51347272	2	2	19	1	0	0	0	0	0	0	0	1	77	1461	51	3		3	ABHD12B	14	51347272	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	123217	51347272	56002268	2264	16563											
TRIM9	114088	broad.mit.edu	37	chr14	51561624	51561624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatagaaggagccgcacaCggggcatttcaactcctctt	10	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:51561624C>T	uc001wyx.3	-	1	799	c.34G>A	c.(34-36)GTG>ATG	p.V12M	TRIM9_uc001wyy.2_Missense_Mutation_p.V12M|TRIM9_uc001wyz.3_Missense_Mutation_p.V12M	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	12	RING-type.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					GAGCCGCACACGGGGCATTTC	0.637													T	51561624	C	T	51561624	3	4	19	1	0	0	0	0	1	0	0	0	16546	536	19	1	2188	1	TRIM9	14	51561624	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	214352	51561624	55787916	2265	16564											
FRMD6	122786	broad.mit.edu	37	chr14	52174925	52174925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtccgactggatgacgtcGctgttcattactacagattg	10	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:52174925G>A	uc001wzd.2	+	7	973	c.688G>A	c.(688-690)GCT>ACT	p.A230T	FRMD6_uc001wzb.2_Missense_Mutation_p.A222T|FRMD6_uc001wzc.2_Missense_Mutation_p.A222T|FRMD6_uc001wze.2_Missense_Mutation_p.A153T	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	230	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			ovary(1)|breast(1)|central_nervous_system(1)	3	all_epithelial(31;0.0163)|Breast(41;0.089)					GGATGACGTCGCTGTTCATTA	0.403													A	52174925	G	A	52174925	3	1	19	1	0	0	0	0	1	0	0	0	6054	1087	38	1	686	1	FRMD6	14	52174925	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	613301	52174925	55174615	2266	16565											
C14orf166	51637	broad.mit.edu	37	chr14	52468574	52468574	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttgctaaggcaaatcAaacaaaagaggtacgtttct	9	7	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:52468574A>G	uc010aod.2	+	6	651	c.521A>G	c.(520-522)CAA>CGA	p.Q174R	C14orf166_uc001wzm.3_Missense_Mutation_p.Q40R|C14orf166_uc001wzn.3_Missense_Mutation_p.Q36R	NM_016039	NP_057123	Q9Y224	CN166_HUMAN	homeobox prox 1	174						microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding				0	Breast(41;0.0639)|all_epithelial(31;0.101)					AAGGCAAATCAAACAAAAGAG	0.348													G	52468574	A	G	52468574	3	3	19	1	0	0	0	0	1	0	0	0	1756	130	5	3	543	3	C14orf166	14	52468574	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	293649	52468574	54880966	2267	16566											
PTGER2	5732	broad.mit.edu	37	chr14	52781392	52781392	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggggaacctcatagcActggcgctgctggcgcgccg	16	13	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:52781392A>G	uc001wzr.2	+	1	377	c.126A>G	c.(124-126)GCA>GCG	p.A42A		NM_000956	NP_000947	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	42	Helical; Name=1; (Potential).					integral to plasma membrane	prostaglandin E receptor activity			lung(1)|breast(1)	2	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	ACCTCATAGCACTGGCGCTGC	0.687													G	52781392	A	G	52781392	2	3	19	1	0	0	0	0	0	0	0	1	12743	146	6	3		3	PTGER2	14	52781392	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	312818	52781392	54568148	2268	16567											
GPR137C	283554	broad.mit.edu	37	chr14	53020116	53020116	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcggctgagttaccagagccTctgcctcttcctctgtctcc	9	16	4	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:53020116T>A	uc001wzu.3	+	1	251	c.251T>A	c.(250-252)CTC>CAC	p.L84H	TXNDC16_uc010tqu.1_5'Flank|TXNDC16_uc001wzs.2_5'Flank|TXNDC16_uc010aoe.2_5'Flank|GPR137C_uc001wzt.3_Missense_Mutation_p.L84H	NM_001099652	NP_001093122	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	84	Helical; (Potential).					integral to membrane					0	Breast(41;0.0716)					TACCAGAGCCTCTGCCTCTTC	0.687													A	53020116	T	A	53020116	3	1	19	1	0	0	0	0	1	0	0	0	6647	1551	54	5	253	5	GPR137C	14	53020116	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	238724	53020116	54329424	2269	16568											
GNPNAT1	64841	broad.mit.edu	37	chr14	53250196	53250196	+	Frame_Shift_Del	DEL	A	A	-													gttagctgacccaataccttAaaaaaacctagttttgaaaa							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:53250196delA	uc001xab.2	-	3	417	c.162delT	c.(160-162)TTTfs	p.F54fs		NM_198066	NP_932332	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	54	N-acetyltransferase.				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity				0	Breast(41;0.176)					CCAATACCTTAAAAAAACCTA	0.348													-	53250196	A	-	53250196	7	5	19	1	0	1	0	1	0	0	0	0	6544	359	13	0	408	0	GNPNAT1	14	53250196	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	230080	53250196	54099344	2270	16569											
FERMT2	10979	broad.mit.edu	37	chr14	53417283	53417283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccttatcccgtccagagCcatggctccttcctgcgagc	8	17	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:53417283C>T	uc001xad.2	-	2	59	c.4G>A	c.(4-6)GCT>ACT	p.A2T	FERMT2_uc001xac.2_Missense_Mutation_p.A2T|FERMT2_uc001xae.2_Missense_Mutation_p.A2T|FERMT2_uc001xaf.2_Missense_Mutation_p.A2T	NM_006832	NP_006823	Q96AC1	FERM2_HUMAN	fermitin family homolog 2 isoform 1	2					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding				0	Breast(41;0.0342)					CCGTCCAGAGCCATGGCTCCT	0.617													T	53417283	C	T	53417283	3	4	19	1	0	0	0	0	1	0	0	0	5818	739	26	2	2131	2	FERMT2	14	53417283	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	167087	53417283	53932257	2271	16570											
DDHD1	80821	broad.mit.edu	37	chr14	53529696	53529696	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagagttcatcaagaagatgTcgttcttcatagctcatcca	7	9	5	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:53529696T>C	uc001xai.2	-	7	1961	c.1731A>G	c.(1729-1731)CGA>CGG	p.R577R	DDHD1_uc001xaj.2_Silent_p.R584R|DDHD1_uc001xah.2_Silent_p.R577R|DDHD1_uc001xag.2_Silent_p.R159R|DDHD1_uc001xak.1_5'Flank	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	577					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)					CAAGAAGATGTCGTTCTTCAT	0.373													C	53529696	T	C	53529696	2	2	19	1	0	0	0	0	0	0	0	1	4326	1654	58	3		3	DDHD1	14	53529696	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	112413	53529696	53819844	2272	16571											
DDHD1	80821	broad.mit.edu	37	chr14	53540568	53540568	+	Splice_Site	DEL	A	A	-													cttgcagcttctctcatcctAaaaaaacaaacaaacaaaaa							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:53540567_53540567TA>T	uc001xai.3	-	5	1520	c.1290_splice	c.e5-1	p.M430_splice	DDHD1_uc001xaj.3_Splice_Site_p.M437_splice|DDHD1_uc001xah.3_Splice_Site_p.M430_splice|DDHD1_uc001xag.3_Splice_Site_p.M12_splice	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	430					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCTCTCATCCTAAAAAAACAA	0.313													-	53540568	A	-	53540568	8	5	19	1	0	1	0	1	0	0	1	0	4326	377	13	0		0	DDHD1	14	53540568	Splice_Site	DEL	A	TCGA-BR-4361-01A-01D-1158-08	10872	53540568	53808972	2273	16572											
CDKN3	1033	broad.mit.edu	37	chr14	54886723	54886723	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagcaatacaattatcTtcatgagtttcgggacaaat	6	7	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:54886723T>G	uc001xap.2	+	8	680	c.566T>G	c.(565-567)CTT>CGT	p.L189R	CDKN3_uc001xar.2_Missense_Mutation_p.L149R|CDKN3_uc001xaq.2_Missense_Mutation_p.L188R|CDKN3_uc001xas.1_Intron|CDKN3_uc010aoj.1_RNA	NM_005192	NP_005183	Q16667	CDKN3_HUMAN	cyclin-dependent kinase inhibitor 3 isoform 1	189					cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0						TACAATTATCTTCATGAGTTT	0.323													G	54886723	T	G	54886723	3	3	19	1	0	0	0	0	1	0	0	0	3167	1609	56	5	596	5	CDKN3	14	54886723	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1346155	54886723	52462817	2274	16573											
OTX2	5015	broad.mit.edu	37	chr14	57271049	57271049	+	Frame_Shift_Del	DEL	G	G	-													cctctcccggcgctgtttccGgggggtggctgcgggacaag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:57271048_57271048CG>C	uc001xcq.3	-	3	405	c.131_131CG>G	c.(130-132)cggfs	p.R44fs	OTX2_uc001xcp.3_Frame_Shift_Del_p.R36fs|OTX2_uc021rtm.1_Intron|OTX2_uc010aou.3_Frame_Shift_Del_p.R36fs	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	36					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding	p.R44fs*52(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GCGCTGTTTCCGGGGGGTGGC	0.632													-	57271049	G	-	57271049	7	5	19	1	0	1	0	1	0	0	0	0	11321	1115	39	0	771	0	OTX2	14	57271049	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	2384326	57271049	50078491	2275	16574											
EXOC5	10640	broad.mit.edu	37	chr14	57676479	57676479	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctccacttgttttcttacgtAagcacagacttttacacagg	6	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:57676479A>T	uc001xct.2	-	17	1995	c.1744T>A	c.(1744-1746)TAC>AAC	p.Y582N	EXOC5_uc001xcs.2_Missense_Mutation_p.Y261N|EXOC5_uc010trg.1_Missense_Mutation_p.Y527N|EXOC5_uc010trh.1_Missense_Mutation_p.Y517N	NM_006544	NP_006535	O00471	EXOC5_HUMAN	SEC10 protein	582					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				ovary(2)|breast(1)	3						TTTCTTACGTAAGCACAGACT	0.353													T	57676479	A	T	57676479	3	4	19	1	0	0	0	0	1	0	0	0	5307	362	13	5	390	5	EXOC5	14	57676479	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	405430	57676479	49673061	2276	16575											
DACT1	51339	broad.mit.edu	37	chr14	59113577	59113577	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacaccagtgaggacgagCagagcaattacaccaccaac	10	12	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:59113577C>T	uc001xdw.2	+	4	2400	c.2236C>T	c.(2236-2238)CAG>TAG	p.Q746*	DACT1_uc010trv.1_Nonsense_Mutation_p.Q465*|DACT1_uc001xdx.2_Nonsense_Mutation_p.Q709*|DACT1_uc010trw.1_Nonsense_Mutation_p.Q465*	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	746					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						TGAGGACGAGCAGAGCAATTA	0.617													T	59113577	C	T	59113577	4	4	19	1	0	0	0	0	0	1	0	0	4222	711	25	2	2250	2	DACT1	14	59113577	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1437098	59113577	48235963	2277	16576											
DAAM1	23002	broad.mit.edu	37	chr14	59791105	59791105	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacttcatcttcgctatgaaTttctgatgttaggaattcaa	7	7	4	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:59791105T>A	uc001xdz.1	+	8	1047	c.922T>A	c.(922-924)TTT>ATT	p.F308I	DAAM1_uc001xea.1_Missense_Mutation_p.F308I|DAAM1_uc001xeb.1_Missense_Mutation_p.F308I	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	308	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TCGCTATGAATTTCTGATGTT	0.299													A	59791105	T	A	59791105	3	1	19	1	0	0	0	0	1	0	0	0	4215	1493	52	5	948	5	DAAM1	14	59791105	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	677528	59791105	47558435	2278	16577											
DAAM1	23002	broad.mit.edu	37	chr14	59835393	59835393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacaacgtgaaagggaacGtaaaatgagaaaagctaaag	11	4	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:59835393G>A	uc001xdz.1	+	26	3178	c.3053G>A	c.(3052-3054)CGT>CAT	p.R1018H	DAAM1_uc001xea.1_Missense_Mutation_p.R1008H|DAAM1_uc001xec.1_RNA	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	1018					actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GAAAGGGAACGTAAAATGAGA	0.378													A	59835393	G	A	59835393	3	1	19	1	0	0	0	0	1	0	0	0	4215	1145	40	1	3151	1	DAAM1	14	59835393	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	44288	59835393	47514147	2279	16578											
DHRS7	51635	broad.mit.edu	37	chr14	60616897	60616897	+	Frame_Shift_Del	DEL	A	A	-													agttctgttcgaaggccattAaaaaaaccctaacagacaaa							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:60616896_60616896TA>T	uc001xes.3	-	4	827	c.643_643TA>A	c.(643-645)aatfs	p.N215fs	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.3_Frame_Shift_Del_p.N165fs	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7 (DHRS7), mRNA.	215							binding|oxidoreductase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		CGAAGGCCATTAAAAAAACCC	0.343													-	60616897	A	-	60616897	7	5	19	1	0	1	0	1	0	0	0	0	4495	359	13	0	389	0	DHRS7	14	60616897	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	781504	60616897	46732643	2280	16579											
PPM1A	5494	broad.mit.edu	37	chr14	60756548	60756548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataaagaagcagggggaagGcgtccccgacttagtccatg	13	10	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:60756548G>A	uc010apn.2	+	5	1379	c.977G>A	c.(976-978)GGC>GAC	p.G326D	PPM1A_uc001xew.3_Missense_Mutation_p.G399D|PPM1A_uc001xey.3_Missense_Mutation_p.G326D	NM_021003	NP_066283	P35813	PPM1A_HUMAN	protein phosphatase 1A isoform 1	326					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.046)		CAGGGGGAAGGCGTCCCCGAC	0.428													A	60756548	G	A	60756548	3	1	19	1	0	0	0	0	1	0	0	0	12335	1203	42	2	1233	2	PPM1A	14	60756548	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	139651	60756548	46592992	2281	16580											
SIX6	4990	broad.mit.edu	37	chr14	60977805	60977805	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctttcttccccgtagactCcagcagcaggtcctgtcaca	7	17	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:60977805C>T	uc001xfa.3	+	2	755	c.576C>T	c.(574-576)CTC>CTT	p.L192L		NM_007374	NP_031400	O95475	SIX6_HUMAN	SIX homeobox 6	192					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.088)		CCCGTAGACTCCAGCAGCAGG	0.716													T	60977805	C	T	60977805	2	4	19	1	0	0	0	0	0	0	0	1	14351	842	30	4		4	SIX6	14	60977805	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	221257	60977805	46371735	2282	16581											
PRKCH	5583	broad.mit.edu	37	chr14	62014542	62014542	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcttgagacatcctttttttAaggaaatcgactgggcccag	9	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:62014542A>T	uc001xfn.2	+	13	2148	c.1843A>T	c.(1843-1845)AAG>TAG	p.K615*	PRKCH_uc010tsa.1_Nonsense_Mutation_p.K454*|PRKCH_uc010tsb.1_Nonsense_Mutation_p.K183*|PRKCH_uc001xfo.2_RNA	NM_006255	NP_006246	P24723	KPCL_HUMAN	protein kinase C, eta	615	AGC-kinase C-terminal.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TCCTTTTTTTAAGGAAATCGA	0.517													T	62014542	A	T	62014542	4	4	19	1	0	0	0	0	0	1	0	0	12513	363	13	5	1893	5	PRKCH	14	62014542	Nonsense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1036737	62014542	45334998	2283	16582											
KCNH5	27133	broad.mit.edu	37	chr14	63417154	63417155	+	Frame_Shift_Del	DEL	AC	AC	-													ccagtgggccaccagtccaaAcacacacaccaggagcacga							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:63417153_63417154AAC>A	uc001xfx.3	-	6	1117_1118	c.1066_1067GTT>T	c.(1066-1068)tttfs	p.F356fs	KCNH5_uc001xfy.3_Frame_Shift_Del_p.F356fs|KCNH5_uc001xfz.1_Frame_Shift_Del_p.F298fs|KCNH5_uc001xga.3_Frame_Shift_Del_p.F298fs	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	356					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CACCAGTCCAAACACACACACC	0.51													-	63417155	AC	-	63417154	7	5	19	1	0	1	0	1	0	0	0	0	8035	43	2	0	1954	0	KCNH5	14	63417154	Frame_Shift_Del	DEL	AC	TCGA-BR-4361-01A-01D-1158-08	1402612	63417154	43932386	2284	16583											
SYNE2	23224	broad.mit.edu	37	chr14	64637149	64637149	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagcgcttcagcctctAccaaaccagaagtctgatcc	8	15	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:64637149A>G	uc001xgm.2	+	94	17434	c.17204A>G	c.(17203-17205)TAC>TGC	p.Y5735C	SYNE2_uc001xgl.2_Missense_Mutation_p.Y5735C|SYNE2_uc010apy.2_Missense_Mutation_p.Y2120C|SYNE2_uc001xgn.2_Missense_Mutation_p.Y697C|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR|SYNE2_uc001xgq.2_Missense_Mutation_p.Y100C	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5735	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTCAGCCTCTACCAAACCAGA	0.493													G	64637149	A	G	64637149	3	3	19	1	0	0	0	0	1	0	0	0	15443	391	14	3	17574	3	SYNE2	14	64637149	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1219995	64637149	42712391	2285	16584											
AKAP5	9495	broad.mit.edu	37	chr14	64935100	64935100	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttttctagagaataagaGtgcagtgtaaaaatggaaac	10	4	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:64935100G>A	uc001xhd.3	+	2	366	c.-12G>A	c.(-14--10)GAGTG>GAATG		ZBTB25_uc001xhc.2_Intron	NM_004857	NP_004848	P24588	AKAP5_HUMAN	A-kinase anchor protein 5						energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding				0				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		GAGAATAAGAGTGCAGTGTAA	0.388													A	64935100	G	A	64935100	1	1	19	1	0	0	0	0	0	0	0	0	454	1044	36	4		4	AKAP5	14	64935100	Translation_Start_Site	SNP	G	TCGA-BR-4361-01A-01D-1158-08	297951	64935100	42414440	2286	16585											
SPTB	6710	broad.mit.edu	37	chr14	65260168	65260170	+	In_Frame_Del	DEL	TTC	TTC	-													agttctcagcatcctggaggTtcttcttgcagaaggcagcc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:65260168_65260170delTTC	uc001xht.2	-	13	2265_2267	c.2211_2213delGAA	c.(2209-2214)AAGAAC>AAC	p.K737del	SPTB_uc001xhr.2_In_Frame_Del_p.K737del|SPTB_uc001xhs.2_In_Frame_Del_p.K737del|SPTB_uc001xhu.2_In_Frame_Del_p.K737del	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	737	Spectrin 5.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ATCCTGGAGGTTCTTCTTGCAGA	0.591													-	65260170	TTC	-	65260168	7	5	19	1	0	1	0	1	0	0	0	0	15117	1725	60	0	4934	0	SPTB	14	65260168	In_Frame_Del	DEL	TTC	TCGA-BR-4361-01A-01D-1158-08	325068	65260168	42089372	2287	16586											
VTI1B	10490	broad.mit.edu	37	chr14	68129195	68129195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttgttccttgttctcaccGtttcatttgcttcctgttgc	6	11	2	0	rs141864546		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:68129195G>A	uc001xjt.2	-	2	569	c.173C>T	c.(172-174)ACG>ATG	p.T58M	VTI1B_uc010aqp.2_Translation_Start_Site|VTI1B_uc001xju.2_Intron	NM_006370	NP_006361	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with	58	Potential.|Cytoplasmic (Potential).				cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane					0				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		TGTTCTCACCGTTTCATTTGC	0.328													A	68129195	G	A	68129195	3	1	19	1	0	0	0	0	1	0	0	0	17233	1159	40	1	545	1	VTI1B	14	68129195	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2869027	68129195	39220345	2288	16587											
ZFYVE26	23503	broad.mit.edu	37	chr14	68270908	68270908	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaaggtttgtaaggtgatGgagagtgtagagcactgagt	17	2	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:68270908G>T	uc001xka.2	-	9	1484	c.1345C>A	c.(1345-1347)CAT>AAT	p.H449N	ZFYVE26_uc010tsz.1_Intron|ZFYVE26_uc001xkc.3_Missense_Mutation_p.H449N|ZFYVE26_uc010tta.1_Missense_Mutation_p.H449N	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	449					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTAAGGTGATGGAGAGTGTAG	0.507													T	68270908	G	T	68270908	3	4	19	1	0	0	0	0	1	0	0	0	17665	1348	47	5	6410	5	ZFYVE26	14	68270908	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	141713	68270908	39078632	2289	16588											
ACTN1	87	broad.mit.edu	37	chr14	69371427	69371427	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctgccacgtcaaaagcCgtattcagatttgtgagtgg	10	9	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:69371427C>T	uc001xkl.2	-	7	931	c.621G>A	c.(619-621)ACG>ACA	p.T207T	ACTN1_uc010ttb.1_Silent_p.T142T|ACTN1_uc001xkm.2_Silent_p.T207T|ACTN1_uc001xkn.2_Silent_p.T207T|ACTN1_uc001xko.1_Silent_p.T142T|ACTN1_uc010ttd.1_Silent_p.T186T	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	207	CH 2.|Actin-binding.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CGTCAAAAGCCGTATTCAGAT	0.522													T	69371427	C	T	69371427	2	4	19	1	0	0	0	0	0	0	0	1	204	639	23	1		1	ACTN1	14	69371427	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1100519	69371427	37978113	2290	16589											
SLC39A9	55334	broad.mit.edu	37	chr14	69925109	69925109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagccctttcagaggtgaaCgccacgggagtggccatgct	14	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:69925109C>T	uc001xle.2	+	7	1403	c.723C>T	c.(721-723)AAC>AAT	p.N241N	SLC39A9_uc010aqx.2_Silent_p.N218N|SLC39A9_uc001xlf.3_Intron|SLC39A9_uc001xlg.3_RNA	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN	solute carrier family 39 (zinc transporter),	241					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity				0				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		CAGAGGTGAACGCCACGGGAG	0.488													T	69925109	C	T	69925109	2	4	19	1	0	0	0	0	0	0	0	1	14625	535	19	1		1	SLC39A9	14	69925109	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	553682	69925109	37424431	2291	16590											
SLC8A3	6547	broad.mit.edu	37	chr14	70634916	70634916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaatagacaatgaccctgGcaatcttgtccccaagggaa	8	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:70634916G>A	uc001xly.2	-	2	978	c.224C>T	c.(223-225)GCC>GTC	p.A75V	SLC8A3_uc001xlw.2_Missense_Mutation_p.A75V|SLC8A3_uc001xlx.2_Missense_Mutation_p.A75V|SLC8A3_uc001xlz.2_Missense_Mutation_p.A75V|SLC8A3_uc010ara.2_RNA	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	75	Helical; (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AATGACCCTGGCAATCTTGTC	0.512													A	70634916	G	A	70634916	3	1	19	1	0	0	0	0	1	0	0	0	14708	1203	42	2	2698	2	SLC8A3	14	70634916	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	709807	70634916	36714624	2292	16591											
ADAM21	8747	broad.mit.edu	37	chr14	70924361	70924361	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgatccccttgaaggtgAtcagcaggggcagaagtgca	15	8	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:70924361A>G	uc001xmd.2	+	1	145	c.145A>G	c.(145-147)ATC>GTC	p.I49V		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	49					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTTGAAGGTGATCAGCAGGGG	0.542													G	70924361	A	G	70924361	3	3	19	1	0	0	0	0	1	0	0	0	243	333	12	3	147	3	ADAM21	14	70924361	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	289445	70924361	36425179	2293	16592											
ADAM20	8748	broad.mit.edu	37	chr14	70990174	70990174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtacagtttaacagacaaCagggatcttttgcacactgc	9	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:70990174C>T	uc001xme.2	-	2	1696	c.1451G>A	c.(1450-1452)TGT>TAT	p.C484Y		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	434	Disintegrin.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TAACAGACAACAGGGATCTTT	0.433													T	70990174	C	T	70990174	3	4	19	1	0	0	0	0	1	0	0	0	242	478	17	4	883	4	ADAM20	14	70990174	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	65813	70990174	36359366	2294	16593											
DCAF4	26094	broad.mit.edu	37	chr14	73420907	73420907	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcatgctctgcagtttccggAtccctggtgcctggtcctgt	12	13	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:73420907A>T	uc001xng.2	+	10	1064	c.844A>T	c.(844-846)ATC>TTC	p.I282F	DCAF4_uc001xnj.2_Missense_Mutation_p.I283F|DCAF4_uc010ttr.1_Missense_Mutation_p.I261F|DCAF4_uc001xnh.2_Missense_Mutation_p.I182F|DCAF4_uc010tts.1_Missense_Mutation_p.I222F|DCAF4_uc010ttt.1_Missense_Mutation_p.I68F|DCAF4_uc001xni.2_Intron|DCAF4_uc001xnk.2_Missense_Mutation_p.I282F	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4 isoform 1	282						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)|skin(1)	3						CAGTTTCCGGATCCCTGGTGC	0.572													T	73420907	A	T	73420907	3	4	19	1	0	0	0	0	1	0	0	0	4270	333	12	5	881	5	DCAF4	14	73420907	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2430733	73420907	33928633	2295	16594											
C14orf43	91748	broad.mit.edu	37	chr14	74196578	74196578	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgttggagtagacgggaggGgcgatgaaagtgcccgcctt	17	7	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:74196578G>T	uc001xot.2	-	4	2643	c.1860C>A	c.(1858-1860)GCC>GCA	p.A620A	C14orf43_uc001xos.2_5'Flank|C14orf43_uc001xou.2_Silent_p.A620A|C14orf43_uc010tud.1_Silent_p.A620A|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		AGACGGGAGGGGCGATGAAAG	0.632													T	74196578	G	T	74196578	2	4	19	1	0	0	0	0	0	0	0	1	1774	1219	43	5		5	C14orf43	14	74196578	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	775671	74196578	33152962	2296	16595											
TTLL5	23093	broad.mit.edu	37	chr14	76330197	76330197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggaccagagtcgagccCggcaccaggtaattcaagat	11	12	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:76330197C>T	uc001xrx.2	+	29	3719	c.3514C>T	c.(3514-3516)CGG>TGG	p.R1172W	TTLL5_uc010ask.1_Missense_Mutation_p.R1187W|TTLL5_uc001xrz.2_Missense_Mutation_p.R747W|TTLL5_uc001xsa.2_Missense_Mutation_p.R246W	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1172					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		GAGTCGAGCCCGGCACCAGGT	0.428													T	76330197	C	T	76330197	3	4	19	1	0	0	0	0	1	0	0	0	16727	643	23	1	3624	1	TTLL5	14	76330197	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2133619	76330197	31019343	2297	16596											
C14orf118	55668	broad.mit.edu	37	chr14	76620992	76620992	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacacaatggtagccaaaCgacacccagctctcaatgcc	7	14	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:76620992C>T	uc001xsh.2	+	2	372	c.286C>T	c.(286-288)CGA>TGA	p.R96*	C14orf118_uc001xsi.2_Nonsense_Mutation_p.R96*|C14orf118_uc001xsj.1_Nonsense_Mutation_p.R96*|C14orf118_uc001xsk.1_Nonsense_Mutation_p.R96*|C14orf118_uc001xsl.2_RNA	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN	hypothetical protein LOC55668 isoform 1	96								p.R96Q(1)		ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.0172)		GGTAGCCAAACGACACCCAGC	0.498													T	76620992	C	T	76620992	4	4	19	1	0	0	0	0	0	1	0	0	1741	528	19	1	288	1	C14orf118	14	76620992	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	290795	76620992	30728548	2298	16597											
KIAA1737	85457	broad.mit.edu	37	chr14	77580348	77580348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctcacctttatgggctgCagagcacctctgccgcagcc	10	15	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:77580348C>T	uc001xtd.2	+	4	1066	c.887C>T	c.(886-888)GCA>GTA	p.A296V	KIAA1737_uc001xtc.1_Missense_Mutation_p.A198V	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	KIAA1737 protein	296											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		TTATGGGCTGCAGAGCACCTC	0.512													T	77580348	C	T	77580348	3	4	19	1	0	0	0	0	1	0	0	0	8255	710	25	2	897	2	KIAA1737	14	77580348	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	959356	77580348	29769192	2299	16598											
TMED8	283578	broad.mit.edu	37	chr14	77818084	77818084	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaggtatccttgttttctagAtcttcattctctagaaaacc	6	9	4	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:77818084A>T	uc001xto.1	-	2	129	c.129T>A	c.(127-129)GAT>GAA	p.D43E	TMED8_uc010ast.1_RNA	NM_213601	NP_998766	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain	43					transport	integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGTTTTCTAGATCTTCATTCT	0.373													T	77818084	A	T	77818084	3	4	19	1	0	0	0	0	1	0	0	0	16008	330	12	5	867	5	TMED8	14	77818084	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	237736	77818084	29531456	2300	16599											
AHSA1	10598	broad.mit.edu	37	chr14	77932002	77932002	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctctatagagtgtttaccAcccaagaggtaagtaagtct	9	8	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:77932002A>G	uc001xtw.2	+	6	842	c.682A>G	c.(682-684)ACC>GCC	p.T228A	AHSA1_uc010tvk.1_Missense_Mutation_p.T228A	NM_012111	NP_036243	O95433	AHSA1_HUMAN	activator of heat shock 90kDa protein ATPase	228					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGTGTTTACCACCCAAGAGGT	0.498													G	77932002	A	G	77932002	3	3	19	1	0	0	0	0	1	0	0	0	418	159	6	3	704	3	AHSA1	14	77932002	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	113918	77932002	29417538	2301	16600											
ISM2	145501	broad.mit.edu	37	chr14	77948915	77948915	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaccagagggcgggcagCcagctaagggtatcctgggg	18	9	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:77948915C>T	uc001xtz.2	-	4	797	c.723G>A	c.(721-723)TGG>TGA	p.W241*	ISM2_uc001xua.2_Intron|ISM2_uc001xty.2_Nonsense_Mutation_p.W153*|ISM2_uc010tvl.1_Nonsense_Mutation_p.W160*	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	isthmin 2 homolog isoform 1	241						extracellular region				skin(1)	1						GGGCGGGCAGCCAGCTAAGGG	0.507													T	77948915	C	T	77948915	4	4	19	1	0	0	0	0	0	1	0	0	7861	740	26	2	1008	2	ISM2	14	77948915	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	16913	77948915	29400625	2302	16601											
NRXN3	9369	broad.mit.edu	37	chr14	79117646	79117646	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggctcccctgtcagcaacAacttcatgggctgccttaaa	8	14	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:79117646A>G	uc001xun.2	+	3	570	c.79A>G	c.(79-81)AAC>GAC	p.N27D	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.N161D	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	400	Laminin G-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGTCAGCAACAACTTCATGGG	0.438													G	79117646	A	G	79117646	3	3	19	1	0	0	0	0	1	0	0	0	10667	130	5	3	81	3	NRXN3	14	79117646	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1168731	79117646	28231894	2303	16602											
PTPN21	11099	broad.mit.edu	37	chr14	88946101	88946101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccggtacacctgcgtccgCatgatgttgggagacgggta	16	10	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:88946101C>T	uc001xwv.3	-	13	2005	c.1674G>A	c.(1672-1674)ATG>ATA	p.M558I	PTPN21_uc010twc.1_Missense_Mutation_p.M354I	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	558						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						CCTGCGTCCGCATGATGTTGG	0.701													T	88946101	C	T	88946101	3	4	19	1	0	0	0	0	1	0	0	0	12786	710	25	2	1878	2	PTPN21	14	88946101	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	9828455	88946101	18403439	2304	16603											
EML5	161436	broad.mit.edu	37	chr14	89124530	89124530	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagtattataaaatgacgtaCccccatcttcttcagaatca	4	10	4	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:89124530C>G	uc001xxg.2	-	27	4063	c.3877_splice	c.e27+1	p.G1293_splice	EML5_uc001xxf.2_Splice_Site_p.G88_splice|EML5_uc001xxh.1_Splice_Site_p.G432_splice	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like							cytoplasm|microtubule				ovary(3)	3						AAATGACGTACCCCCATCTTC	0.333													G	89124530	C	G	89124530	5	3	19	1	0	0	0	0	0	0	1	0	5100	521	18	5	2127	5	EML5	14	89124530	Splice_Site	SNP	C	TCGA-BR-4361-01A-01D-1158-08	178429	89124530	18225010	2305	16604											
EML5	161436	broad.mit.edu	37	chr14	89163261	89163261	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaatggtttaatggtctcTgtatcccatatatgaattga	8	6	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:89163261T>C	uc001xxg.2	-	16	2460	c.2274A>G	c.(2272-2274)ACA>ACG	p.T758T	EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	758	WD 11.					cytoplasm|microtubule				ovary(3)	3						TAATGGTCTCTGTATCCCATA	0.343													C	89163261	T	C	89163261	2	2	19	1	0	0	0	0	0	0	0	1	5100	1567	55	3		3	EML5	14	89163261	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	38731	89163261	18186279	2306	16605											
KCNK13	56659	broad.mit.edu	37	chr14	90651285	90651286	+	Frame_Shift_Ins	INS	-	-	G													ccgggacaatgaattctcagINSggggggtgggagcctttgca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:90651284_90651285A>AG	uc001xye.1	+	1	1606_1607	c.1164_1165A>AG	c.(1162-1167)tcagggfs	p.S388fs		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	388						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.G389W(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ATGAATTCTCAGGGGGGGTGGG	0.589													G	90651286	-	G	90651285	7	5	19	1	0	1	1	0	0	0	0	0	8061	1000	35	0	1171	0	KCNK13	14	90651285	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	1488024	90651285	16698255	2307	16606											
C14orf102	55051	broad.mit.edu	37	chr14	90754804	90754804	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaacactcactttcatgTggaatctcagcaggctcgtg	10	10	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:90754804T>G	uc001xyi.1	-	11	2946	c.2915A>C	c.(2914-2916)CAC>CCC	p.H972P	C14orf102_uc010atp.1_Missense_Mutation_p.H477P|C14orf102_uc001xyj.1_Missense_Mutation_p.H741P|C14orf102_uc001xyk.1_Missense_Mutation_p.H164P	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	972							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		CACTTTCATGTGGAATCTCAG	0.547													G	90754804	T	G	90754804	3	3	19	1	0	0	0	0	1	0	0	0	1735	1696	59	5	595	5	C14orf102	14	90754804	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	103519	90754804	16594736	2308	16607											
TTC7B	145567	broad.mit.edu	37	chr14	91077090	91077090	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggctttttattctcacctgtCtcgggatcgctgaagtctgg	11	10	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:91077090C>T	uc001xyp.2	-	17	2084	c.1962G>A	c.(1960-1962)GAG>GAA	p.E654E	TTC7B_uc001xyo.2_Silent_p.E81E|TTC7B_uc010ats.2_RNA	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	654							binding			ovary(2)	2		Melanoma(154;0.222)				TCTCACCTGTCTCGGGATCGC	0.498													T	91077090	C	T	91077090	2	4	19	1	0	0	0	0	0	0	0	1	16710	912	32	4		4	TTC7B	14	91077090	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	322286	91077090	16272450	2309	16608											
C14orf159	80017	broad.mit.edu	37	chr14	91691156	91691156	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatccagaagctggtggaCgtcaccacggcacaggtgta	13	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:91691156C>T	uc001xzb.2	+	16	2598	c.1830C>T	c.(1828-1830)GAC>GAT	p.D610D	C14orf159_uc001xyx.2_Silent_p.D558D|C14orf159_uc001xyw.2_Silent_p.D615D|C14orf159_uc001xzc.2_Silent_p.D610D|C14orf159_uc001xza.2_Silent_p.D615D|C14orf159_uc001xyv.2_Silent_p.D575D|C14orf159_uc001xyz.2_Silent_p.D486D|C14orf159_uc001xze.2_Silent_p.D610D	NM_001102366	NP_001095836	Q7Z3D6	CN159_HUMAN	hypothetical protein LOC80017 isoform a	610						mitochondrion				central_nervous_system(2)|ovary(1)	3		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		AGCTGGTGGACGTCACCACGG	0.617													T	91691156	C	T	91691156	2	4	19	1	0	0	0	0	0	0	0	1	1755	535	19	1		1	C14orf159	14	91691156	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	614066	91691156	15658384	2310	16609											
GPR68	8111	broad.mit.edu	37	chr14	91701203	91701203	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtagaagaggtcggccacCgtcaggttgcacaggtacac	13	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:91701203C>T	uc001xzg.2	-	2	533	c.192G>A	c.(190-192)ACG>ACA	p.T64T	GPR68_uc001xzh.2_Silent_p.T74T	NM_003485	NP_003476	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	64	Helical; Name=2; (Potential).				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)	1		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		GGTCGGCCACCGTCAGGTTGC	0.632													T	91701203	C	T	91701203	2	4	19	1	0	0	0	0	0	0	0	1	6707	639	23	1		1	GPR68	14	91701203	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	10047	91701203	15648337	2311	16610											
CCDC88C	440193	broad.mit.edu	37	chr14	91804474	91804474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagctcgtctcgataggcacGagcagaccgggcgtctgccg	14	14	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:91804474G>A	uc010aty.2	-	10	1024	c.925C>T	c.(925-927)CGT>TGT	p.R309C		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	309	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				CGATAGGCACGAGCAGACCGG	0.607													A	91804474	G	A	91804474	3	1	19	1	0	0	0	0	1	0	0	0	2865	1058	37	1	5245	1	CCDC88C	14	91804474	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	103271	91804474	15545066	2312	16611											
SMEK1	55671	broad.mit.edu	37	chr14	91942293	91942293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtagcagcacttcgcacCtgtgtatcatccatgccctg	8	14	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:91942293C>T	uc001xzn.2	-	7	1950	c.1128G>A	c.(1126-1128)CAG>CAA	p.Q376Q	SMEK1_uc001xzm.2_Silent_p.Q376Q|SMEK1_uc001xzo.2_Silent_p.Q376Q|SMEK1_uc010atz.2_Silent_p.Q137Q|SMEK1_uc001xzp.1_RNA|SMEK1_uc001xzq.1_Silent_p.Q252Q	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1	376						microtubule organizing center|nucleus	protein binding				0		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		CACTTCGCACCTGTGTATCAT	0.368													T	91942293	C	T	91942293	2	4	19	1	0	0	0	0	0	0	0	1	14793	680	24	4		4	SMEK1	14	91942293	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	137819	91942293	15407247	2313	16612											
GOLGA5	9950	broad.mit.edu	37	chr14	93299693	93299693	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggaattgacaatggtgaagGtaatcaaaaaaggaatctca	10	4	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:93299693G>C	uc001yaz.1	+	10	2127	c.1945_splice	c.e10+1	p.G649_splice	GOLGA5_uc001yba.1_Splice_Site_p.G46_splice	NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5						Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		AATGGTGAAGGTAATCAAAAA	0.368			T	RET	papillary thyroid								C	93299693	G	C	93299693	5	2	19	1	0	0	0	0	0	0	1	0	6556	1275	44	5	1980	5	GOLGA5	14	93299693	Splice_Site	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1357400	93299693	14049847	2314	16613											
UBR7	55148	broad.mit.edu	37	chr14	93685689	93685689	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactggcgtagcaagttgtgTacctgccaagactgtatggt	12	8	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:93685689T>C	uc001ybm.3	+	8	1178	c.942T>C	c.(940-942)TGT>TGC	p.C314C	UBR7_uc001ybn.3_Silent_p.C238C|UBR7_uc010auq.2_Silent_p.C163C	NM_175748	NP_786924	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin	314							ubiquitin-protein ligase activity|zinc ion binding				0						GCAAGTTGTGTACCTGCCAAG	0.433													C	93685689	T	C	93685689	2	2	19	1	0	0	0	0	0	0	0	1	16903	1644	57	3		3	UBR7	14	93685689	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	385996	93685689	13663851	2315	16614											
BTBD7	55727	broad.mit.edu	37	chr14	93760464	93760464	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagttcggtctgtgattTcttcaccagttcgtatcctc	7	11	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:93760464T>C	uc001ybo.2	-	3	1228	c.902A>G	c.(901-903)GAA>GGA	p.E301G	BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_Missense_Mutation_p.E216G|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_Missense_Mutation_p.E216G|BTBD7_uc001ybr.2_Missense_Mutation_p.E301G	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	301	BTB 2.									pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GTCTGTGATTTCTTCACCAGT	0.373													C	93760464	T	C	93760464	3	2	19	1	0	0	0	0	1	0	0	0	1546	1783	62	3	2607	3	BTBD7	14	93760464	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	74775	93760464	13589076	2316	16615											
SERPINA1	5265	broad.mit.edu	37	chr14	94844961	94844961	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttctcgtcgatggtcagcAcagccttatgcacggcctgg	11	13	2	0	rs1131139		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:94844961A>G	uc001ycx.3	-	5	1343	c.1082T>C	c.(1081-1083)GTG>GCG	p.V361A	SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Missense_Mutation_p.V361A|SERPINA1_uc010aux.2_Missense_Mutation_p.V361A|SERPINA1_uc001ycy.3_Missense_Mutation_p.V361A|SERPINA1_uc010auy.2_Missense_Mutation_p.V361A|SERPINA1_uc001ycz.3_Missense_Mutation_p.V361A|SERPINA1_uc010auz.2_Missense_Mutation_p.V361A|SERPINA1_uc010ava.2_Missense_Mutation_p.V361A|SERPINA1_uc001ydb.3_Missense_Mutation_p.V361A|SERPINA1_uc010avb.2_Missense_Mutation_p.V361A|SERPINA1_uc001ydc.3_Missense_Mutation_p.V361A	NM_000295	NP_000286	P01009	A1AT_HUMAN	serine proteinase inhibitor, clade A, member 1	361					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			skin(1)	1		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GATGGTCAGCACAGCCTTATG	0.572									Alpha-1-Antitrypsin_Deficiency				G	94844961	A	G	94844961	3	3	19	1	0	0	0	0	1	0	0	0	14086	159	6	3	178	3	SERPINA1	14	94844961	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1084497	94844961	12504579	2317	16616											
DICER1	23405	broad.mit.edu	37	chr14	95562592	95562592	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtccgctatgcttttgtcAgcaatacactgctcagtgtg	9	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:95562592A>G	uc001ydw.2	-	24	4847	c.4665T>C	c.(4663-4665)GCT>GCC	p.A1555A	DICER1_uc010avh.1_Silent_p.A453A|DICER1_uc001ydv.2_Silent_p.A1545A|DICER1_uc001ydx.2_Silent_p.A1555A|DICER1_uc001ydy.1_Silent_p.A407A	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1555					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGCTTTTGTCAGCAATACACT	0.512			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				G	95562592	A	G	95562592	2	3	19	1	0	0	0	0	0	0	0	1	4521	175	7	3		3	DICER1	14	95562592	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	717631	95562592	11786948	2318	16617											
C14orf49	161176	broad.mit.edu	37	chr14	95921914	95921914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcctcccagagggcgcGcagcttctccagaactttcc	8	18	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:95921914G>A	uc001yei.3	-	5	952	c.937C>T	c.(937-939)CGC>TGC	p.R313C	C14orf49_uc010avi.2_Missense_Mutation_p.R313C|C14orf49_uc001yej.1_Missense_Mutation_p.R313C	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	313	Spectrin 1.|Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CAGAGGGCGCGCAGCTTCTCC	0.617													A	95921914	G	A	95921914	3	1	19	1	0	0	0	0	1	0	0	0	1776	1087	38	1	2042	1	C14orf49	14	95921914	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	359322	95921914	11427626	2319	16618											
ATG2B	55102	broad.mit.edu	37	chr14	96808017	96808017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattttggggttccagctagGtgagagctttggctcagttt	13	6	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:96808017G>A	uc001yfi.2	-	6	1131	c.766C>T	c.(766-768)CCT>TCT	p.P256S		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	256										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTCCAGCTAGGTGAGAGCTTT	0.313													A	96808017	G	A	96808017	3	1	19	1	0	0	0	0	1	0	0	0	1094	1261	44	4	5618	4	ATG2B	14	96808017	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	886103	96808017	10541523	2320	16619											
EVL	51466	broad.mit.edu	37	chr14	100604082	100604082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccattgccgtagaacccCgtctgtggcaaagagccccg	10	14	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:100604082C>T	uc001ygt.2	+	11	1270	c.1031C>T	c.(1030-1032)CCG>CTG	p.P344L	EVL_uc001ygv.2_Missense_Mutation_p.P350L|EVL_uc001ygu.2_Missense_Mutation_p.P346L|EVL_uc010avu.2_Missense_Mutation_p.P203L	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Enah/Vasp-like	344	EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			large_intestine(2)|ovary(1)	3		Melanoma(154;0.152)				CGTAGAACCCCGTCTGTGGCA	0.622													T	100604082	C	T	100604082	3	4	19	1	0	0	0	0	1	0	0	0	5291	652	23	1	1079	1	EVL	14	100604082	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3796065	100604082	6745458	2321	16620											
ZNF839	55778	broad.mit.edu	37	chr14	102805235	102805235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggacccaagcacctcagccGagacatggatggggagcagc	14	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:102805235G>A	uc001ylo.2	+	6	1744	c.1394G>A	c.(1393-1395)CGA>CAA	p.R465Q	ZNF839_uc010awk.1_Missense_Mutation_p.R581Q|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Missense_Mutation_p.R465Q|ZNF839_uc001ylr.2_Missense_Mutation_p.R390Q|ZNF839_uc001yls.2_Missense_Mutation_p.R80Q|ZNF839_uc001ylt.2_Missense_Mutation_p.R55Q	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	zinc finger protein 839	465						intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)	2						CACCTCAGCCGAGACATGGAT	0.532													A	102805235	G	A	102805235	3	1	19	1	0	0	0	0	1	0	0	0	18185	1058	37	1	1764	1	ZNF839	14	102805235	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2201153	102805235	4544305	2322	16621											
KLC1	3831	broad.mit.edu	37	chr14	104121164	104121164	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcctgagtgaggcacaggTacgagtgagaatgactcaga	15	8	1	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:104121164T>C	uc001yno.2	+	2	569	c.261_splice	c.e2+2	p.Q87_splice	KLC1_uc010tyd.1_Splice_Site_p.Q246_splice|KLC1_uc010tye.1_Splice_Site_p.Q83_splice|KLC1_uc001ynm.1_Splice_Site_p.Q87_splice|KLC1_uc001ynn.1_Splice_Site_p.Q83_splice|KLC1_uc010tyf.1_Splice_Site_p.Q87_splice	NM_182923	NP_891553	Q07866	KLC1_HUMAN	kinesin light chain 1 isoform 2						blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0		Melanoma(154;0.155)|all_epithelial(191;0.19)				GAGGCACAGGTACGAGTGAGA	0.403													C	104121164	T	C	104121164	5	2	19	1	0	0	0	0	0	0	1	0	8333	1652	57	3	265	3	KLC1	14	104121164	Splice_Site	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1315929	104121164	3228376	2323	16622											
TDRD9	122402	broad.mit.edu	37	chr14	104460920	104460920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaataatgtctttttaagtCcagtccctgggtacagaaag	9	7	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:104460920C>T	uc001yom.3	+	11	1330	c.1300C>T	c.(1300-1302)CCA>TCA	p.P434S	TDRD9_uc001yon.3_Missense_Mutation_p.P172S	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	434	Helicase C-terminal.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CTTTTTAAGTCCAGTCCCTGG	0.338													T	104460920	C	T	104460920	3	4	19	1	0	0	0	0	1	0	0	0	15733	855	30	4	1342	4	TDRD9	14	104460920	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	339756	104460920	2888620	2324	16623											
INF2	64423	broad.mit.edu	37	chr14	105174185	105174185	+	Frame_Shift_Del	DEL	C	C	-													ctactgccctgcacctgcagCccccccgtggcgggaggcat							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:105174184_105174184GC>G	uc001ypb.2	+	7	1723	c.1580_1580GC>G	c.(1579-1581)agcfs	p.S527fs	INF2_uc001ypc.2_Frame_Shift_Del_p.S527fs|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	527					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding	p.V530fs*50(1)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGCACCTGCAGCCCCCCCGTG	0.721													-	105174185	C	-	105174185	7	5	19	1	0	1	0	1	0	0	0	0	7734	738	26	0	1611	0	INF2	14	105174185	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	713265	105174185	2175355	2325	16624											
ADSSL1	122622	broad.mit.edu	37	chr14	105208219	105208219	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgacttcatccaactgcacCgtgggcggtgtgtgcacggg	15	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:105208219C>A	uc001ypd.2	+	9	902	c.828C>A	c.(826-828)ACC>ACA	p.T276T	INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Silent_p.T319T|ADSSL1_uc001ypf.2_RNA	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1 isoform 2	276					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(1)|central_nervous_system(1)	2		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	CCAACTGCACCGTGGGCGGTG	0.602													A	105208219	C	A	105208219	2	1	19	1	0	0	0	0	0	0	0	1	348	639	23	5		5	ADSSL1	14	105208219	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	34034	105208219	2141321	2326	16625											
AHNAK2	113146	broad.mit.edu	37	chr14	105406621	105406621	+	Frame_Shift_Del	DEL	C	C	-													tttctgtgtcttgaaagctaCcccctgctgtggcactagaa							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:105406620_105406620AC>A	uc010axc.1	-	6	15288	c.15168_15168GT>T	c.(15166-15168)ggtfs	p.G5056fs	AHNAK2_uc021sen.1_Frame_Shift_Del_p.G453fs|AHNAK2_uc021seo.1_Frame_Shift_Del_p.G54fs|AHNAK2_uc001ypx.2_Frame_Shift_Del_p.G4956fs	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5056						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		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)			CTTGAAAGCTACCCCCTGCTG	0.552													-	105406621	C	-	105406621	7	5	19	1	0	1	0	1	0	0	0	0	415	507	18	0	2224	0	AHNAK2	14	105406621	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	198402	105406621	1942919	2327	16626											
AHNAK2	113146	broad.mit.edu	37	chr14	105409919	105409919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgtcatgtccttgtcggCcagggacaggtccccctcca	12	16	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:105409919C>T	uc010axc.1	-	7	11989	c.11869G>A	c.(11869-11871)GCC>ACC	p.A3957T	AHNAK2_uc001ypx.2_Missense_Mutation_p.A3857T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3957						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)			TCCTTGTCGGCCAGGGACAGG	0.622													T	105409919	C	T	105409919	3	4	19	1	0	0	0	0	1	0	0	0	415	739	26	2	5522	2	AHNAK2	14	105409919	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3298	105409919	1939621	2328	16627											
AHNAK2	113146	broad.mit.edu	37	chr14	105411037	105411037	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccttggggcctttcaggTccagcttggggcccttaaca	12	13	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:105411037T>C	uc010axc.1	-	7	10871	c.10751A>G	c.(10750-10752)GAC>GGC	p.D3584G	AHNAK2_uc001ypx.2_Missense_Mutation_p.D3484G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3584						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)			GCCTTTCAGGTCCAGCTTGGG	0.602													C	105411037	T	C	105411037	3	2	19	1	0	0	0	0	1	0	0	0	415	1667	58	3	6640	3	AHNAK2	14	105411037	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1118	105411037	1938503	2329	16628											
AHNAK2	113146	broad.mit.edu	37	chr14	105413365	105413365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgaacttgctgtctttgGctgtcatgcccttgtcggcc	10	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:105413365G>A	uc010axc.1	-	7	8543	c.8423C>T	c.(8422-8424)GCC>GTC	p.A2808V	AHNAK2_uc001ypx.2_Missense_Mutation_p.A2708V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2808						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)			GCTGTCTTTGGCTGTCATGCC	0.612													A	105413365	G	A	105413365	3	1	19	1	0	0	0	0	1	0	0	0	415	1203	42	2	8968	2	AHNAK2	14	105413365	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2328	105413365	1936175	2330	16629											
AHNAK2	113146	broad.mit.edu	37	chr14	105419601	105419601	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggacctccaggtcagcGgaaggggtctggacgctgag	16	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:105419601G>A	uc010axc.1	-	7	2307	c.2187C>T	c.(2185-2187)TCC>TCT	p.S729S	AHNAK2_uc001ypx.2_Silent_p.S629S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	729						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)			CCAGGTCAGCGGAAGGGGTCT	0.652													A	105419601	G	A	105419601	2	1	19	1	0	0	0	0	0	0	0	1	415	1103	39	1		1	AHNAK2	14	105419601	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	6236	105419601	1929939	2331	16630											
AHNAK2	113146	broad.mit.edu	37	chr14	105420230	105420230	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagtacccgcttttgaggAcgcatcctgtctcttccctc	8	16	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:105420230A>C	uc010axc.1	-	7	1678	c.1558T>G	c.(1558-1560)TCC>GCC	p.S520A	AHNAK2_uc001ypx.2_Missense_Mutation_p.S420A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	520						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)			GCTTTTGAGGACGCATCCTGT	0.537													C	105420230	A	C	105420230	3	2	19	1	0	0	0	0	1	0	0	0	415	275	10	5	15833	5	AHNAK2	14	105420230	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	629	105420230	1929310	2332	16631											
CDCA4	55038	broad.mit.edu	37	chr14	105477960	105477960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgcccccacgctgcacGgcacaggatctccgtggaga	11	16	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:105477960G>A	uc001yqa.2	-	2	403	c.307C>T	c.(307-309)CGT>TGT	p.R103C	CDCA4_uc001yqb.2_Missense_Mutation_p.R103C	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	103						nucleus				ovary(1)	1		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		CACGCTGCACGGCACAGGATC	0.662													A	105477960	G	A	105477960	3	1	19	1	0	0	0	0	1	0	0	0	3088	1116	39	1	422	1	CDCA4	14	105477960	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	57730	105477960	1871580	2333	16632											
MTA1	9112	broad.mit.edu	37	chr14	105936442	105936442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctcggaaaccaagcgtGctgcccgccggccctacaag	10	17	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:105936442G>A	uc001yqx.2	+	21	2225	c.2038G>A	c.(2038-2040)GCT>ACT	p.A680T	MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Missense_Mutation_p.A445T|CRIP2_uc010tyr.1_5'Flank|CRIP2_uc001yrc.2_5'Flank	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	680					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		AACCAAGCGTGCTGCCCGCCG	0.711													A	105936442	G	A	105936442	3	1	19	1	0	0	0	0	1	0	0	0	9908	1319	46	2	2120	2	MTA1	14	105936442	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	458482	105936442	1413098	2334	16633											
OR4N4	283694	broad.mit.edu	37	chr15	22383083	22383083	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctaatggtcttcaacagtgGcctgatgacactcctgtgct	9	11	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:22383083G>T	uc001yuc.1	+	7	1592	c.611G>T	c.(610-612)GGC>GTC	p.G204V	LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.G204V	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	204	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTCAACAGTGGCCTGATGACA	0.522													T	22383083	G	T	22383083	3	4	19	1	0	0	0	0	1	0	0	0	11078	1203	42	5	613	5	OR4N4	15	22383083	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08		22383083	80148309	2335	16634											
CYFIP1	23191	broad.mit.edu	37	chr15	22933861	22933861	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatttgacgcccagtgagaaAcacatgcttctcaaagtacg	8	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:22933861A>G	uc001yus.2	+	8	884	c.780A>G	c.(778-780)AAA>AAG	p.K260K	CYFIP1_uc001yut.2_Silent_p.K260K|CYFIP1_uc010aya.1_Silent_p.K288K	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	260					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CCAGTGAGAAACACATGCTTC	0.488													G	22933861	A	G	22933861	2	3	19	1	0	0	0	0	0	0	0	1	4137	40	2	3		3	CYFIP1	15	22933861	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	550778	22933861	79597531	2336	16635											
NIPA1	123606	broad.mit.edu	37	chr15	23048972	23048972	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccaggcccacgttgctccActcccggaagaggatggctg	12	15	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:23048972A>G	uc001yvc.2	-	5	872	c.847T>C	c.(847-849)TGG>CGG	p.W283R	NIPA1_uc001yvd.2_Missense_Mutation_p.W113R|NIPA1_uc001yve.2_Missense_Mutation_p.W208R	NM_144599	NP_653200	Q7RTP0	NIPA1_HUMAN	non-imprinted in Prader-Willi/Angelman syndrome	283	Extracellular (Potential).				cell death	early endosome|integral to membrane|plasma membrane					0		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		ACGTTGCTCCACTCCCGGAAG	0.572													G	23048972	A	G	23048972	3	3	19	1	0	0	0	0	1	0	0	0	10422	159	6	3	146	3	NIPA1	15	23048972	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	115111	23048972	79482420	2337	16636											
C15orf2	23742	broad.mit.edu	37	chr15	24921046	24921046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttagtaaatttagacccgGgtgccgccgccggcccctgc	11	15	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:24921046G>A	uc001ywo.2	+	1	506	c.32G>A	c.(31-33)GGG>GAG	p.G11E		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	11					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TTTAGACCCGGGTGCCGCCGC	0.667													A	24921046	G	A	24921046	3	1	19	1	0	0	0	0	1	0	0	0	1784	1232	43	4	34	4	C15orf2	15	24921046	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1872074	24921046	77610346	2338	16637											
C15orf2	23742	broad.mit.edu	37	chr15	24924398	24924398	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcatcctgcagcacacatgGacagagagaaaattctacac	8	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:24924398G>A	uc001ywo.2	+	1	3858	c.3384G>A	c.(3382-3384)TGG>TGA	p.W1128*		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	1128					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AGCACACATGGACAGAGAGAA	0.478													A	24924398	G	A	24924398	4	1	19	1	0	0	0	0	0	1	0	0	1784	1183	41	4	3386	4	C15orf2	15	24924398	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3352	24924398	77606994	2339	16638											
HERC2	8924	broad.mit.edu	37	chr15	28366538	28366538	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccatgctgacgatcgcgtAccatagttgcttgtactact	10	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:28366538A>G	uc001zbj.2	-	86	13332	c.13226T>C	c.(13225-13227)GTA>GCA	p.V4409A		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4409					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGATCGCGTACCATAGTTGC	0.468													G	28366538	A	G	28366538	3	3	19	1	0	0	0	0	1	0	0	0	7058	391	14	3	1310	3	HERC2	15	28366538	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3442140	28366538	74164854	2340	16639											
HERC2	8924	broad.mit.edu	37	chr15	28386594	28386594	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttcccatcagccgtcAcagcaaagagggtctgttcc	8	14	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:28386594A>G	uc001zbj.2	-	78	12105	c.11999T>C	c.(11998-12000)GTG>GCG	p.V4000A		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4000	RCC1 13.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATCAGCCGTCACAGCAAAGAG	0.517													G	28386594	A	G	28386594	3	3	19	1	0	0	0	0	1	0	0	0	7058	159	6	3	2569	3	HERC2	15	28386594	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	20056	28386594	74144798	2341	16640											
HERC2	8924	broad.mit.edu	37	chr15	28413568	28413568	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttacctctctcttttcttgCcatggatttggactcagtct	6	11	5	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:28413568C>T	uc001zbj.2	-	67	10504	c.10398G>A	c.(10396-10398)TGG>TGA	p.W3466*		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3466					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCTTTTCTTGCCATGGATTTG	0.458													T	28413568	C	T	28413568	4	4	19	1	0	0	0	0	0	1	0	0	7058	740	26	2	4214	2	HERC2	15	28413568	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	26974	28413568	74117824	2342	16641											
HERC2	8924	broad.mit.edu	37	chr15	28421671	28421672	+	Frame_Shift_Ins	INS	-	-	G													tttagtctctcaatgttctgINSgggaatgttacagccttcac							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:28421670_28421671T>TG	uc001zbj.3	-	62	9695_9696	c.9589_9590A>CA	c.(9589-9591)cagfs	p.Q3197fs		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3197					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTCAATGTTCTGGGGAATGTTA	0.505													G	28421672	-	G	28421671	7	5	19	1	0	1	1	0	0	0	0	0	7058	1357	47	0	5039	0	HERC2	15	28421671	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	8103	28421671	74109721	2343	16642											
HERC2	8924	broad.mit.edu	37	chr15	28447491	28447491	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggccaggaaaacgaagtAccaggcaagctggatgcatt	13	8	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:28447491A>G	uc001zbj.2	-	46	7586	c.7480_splice	c.e46+1	p.G2494_splice	HERC2_uc001zbk.1_Intron	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAAACGAAGTACCAGGCAAGC	0.542													G	28447491	A	G	28447491	5	3	19	1	0	0	0	0	0	0	1	0	7058	405	14	3	7214	3	HERC2	15	28447491	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	25820	28447491	74083901	2344	16643											
HERC2	8924	broad.mit.edu	37	chr15	28511077	28511077	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccacgtgcttcccggcctGctttccagagaaggcggaga	12	14	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:28511077G>A	uc001zbj.2	-	13	1748	c.1642C>T	c.(1642-1644)CAG>TAG	p.Q548*	HERC2_uc001zbl.1_Nonsense_Mutation_p.Q243*	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	548	RCC1 1.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCCCGGCCTGCTTTCCAGAG	0.567													A	28511077	G	A	28511077	4	1	19	1	0	0	0	0	0	1	0	0	7058	1328	46	2	13186	2	HERC2	15	28511077	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	63586	28511077	74020315	2345	16644											
APBA2	321	broad.mit.edu	37	chr15	29398920	29398920	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatgatgaatggcggcccGgctgcccgctcggggaagct	15	12	0	2	rs140055297	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:29398920G>A	uc001zck.2	+	11	2022	c.1815G>A	c.(1813-1815)CCG>CCA	p.P605P	APBA2_uc010azj.2_Silent_p.P593P|APBA2_uc010uat.1_Silent_p.P593P|APBA2_uc001zcl.2_Silent_p.P593P	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	605	PDZ 1.				nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		ATGGCGGCCCGGCTGCCCGCT	0.652													A	29398920	G	A	29398920	2	1	19	1	0	0	0	0	0	0	0	1	757	1103	39	1		1	APBA2	15	29398920	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	887843	29398920	73132472	2346	16645											
MTMR15	22909	broad.mit.edu	37	chr15	31197974	31197974	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaatggtcctggtcaaacaAccggtcatccttactacctt	7	13	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:31197974A>G	uc001zff.2	+	2	1399	c.1108A>G	c.(1108-1110)ACC>GCC	p.T370A	MTMR15_uc001zfc.3_Missense_Mutation_p.T370A|MTMR15_uc010azw.2_Missense_Mutation_p.T370A|MTMR15_uc001zfd.3_Missense_Mutation_p.T370A|MTMR15_uc001zfe.2_5'UTR	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	370					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		TGGTCAAACAACCGGTCATCC	0.473								Direct_reversal_of_damage|Editing_and_processing_nucleases					G	31197974	A	G	31197974	3	3	19	1	0	0	0	0	1	0	0	0	9943	43	2	3	1110	3	MTMR15	15	31197974	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1799054	31197974	71333418	2347	16646											
OTUD7A	161725	broad.mit.edu	37	chr15	31776478	31776478	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccaccgcccttctccgcCggcgacgcgcccgctgcctt	11	22	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:31776478C>T	uc001zfq.2	-	11	1893	c.1800G>A	c.(1798-1800)CCG>CCA	p.P600P	OTUD7A_uc001zfr.2_Silent_p.P607P	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	600						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CCTTCTCCGCCGGCGACGCGC	0.706													T	31776478	C	T	31776478	2	4	19	1	0	0	0	0	0	0	0	1	11318	639	23	1		1	OTUD7A	15	31776478	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	578504	31776478	70754914	2348	16647											
FMN1	342184	broad.mit.edu	37	chr15	33261405	33261405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttaaagaggagatattcaGctttttgggtactaattgat	10	4	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:33261405G>A	uc001zhf.3	-	4	1828	c.1828C>T	c.(1828-1830)CTG>TTG	p.L610L		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	833	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GAGATATTCAGCTTTTTGGGT	0.468													A	33261405	G	A	33261405	2	1	19	1	0	0	0	0	0	0	0	1	5949	962	34	2		2	FMN1	15	33261405	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1484927	33261405	69269987	2349	16648											
RYR3	6263	broad.mit.edu	37	chr15	33603275	33603275	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agggggagaaggaggcgaggAcgagatccagtttctgagga	19	5	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:33603275A>T	uc001zhi.2	+	1	99	c.29A>T	c.(28-30)GAC>GTC	p.D10V	RYR3_uc010bar.2_Missense_Mutation_p.D10V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	10	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAGGCGAGGACGAGATCCAG	0.751													T	33603275	A	T	33603275	3	4	19	1	0	0	0	0	1	0	0	0	13770	275	10	5	31	5	RYR3	15	33603275	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	341870	33603275	68928117	2350	16649											
RYR3	6263	broad.mit.edu	37	chr15	33954568	33954568	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctatgacctgctcatcagcAtccacctggccagcgccaag	8	16	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:33954568A>G	uc001zhi.2	+	35	4907	c.4837A>G	c.(4837-4839)ATC>GTC	p.I1613V	RYR3_uc010bar.2_Missense_Mutation_p.I1613V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1613	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTCATCAGCATCCACCTGGC	0.557													G	33954568	A	G	33954568	3	3	19	1	0	0	0	0	1	0	0	0	13770	217	8	3	4975	3	RYR3	15	33954568	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	351293	33954568	68576824	2351	16650											
RYR3	6263	broad.mit.edu	37	chr15	33990089	33990089	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatccttatcctagagacatAatgaacaacaaggtgtttta	7	7	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:33990089A>G	uc001zhi.2	+	40	6211	c.6141A>G	c.(6139-6141)ATA>ATG	p.I2047M	RYR3_uc010bar.2_Missense_Mutation_p.I2047M	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2047	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTAGAGACATAATGAACAACA	0.458													G	33990089	A	G	33990089	3	3	19	1	0	0	0	0	1	0	0	0	13770	352	13	3	6299	3	RYR3	15	33990089	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	35521	33990089	68541303	2352	16651											
RYR3	6263	broad.mit.edu	37	chr15	34102718	34102718	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcggaagaagacaaagcgGcggggagacttgtattccat	15	7	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:34102718G>A	uc001zhi.2	+	71	10135	c.10065G>A	c.(10063-10065)CGG>CGA	p.R3355R	RYR3_uc010bar.2_Silent_p.R3350R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3355					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGACAAAGCGGCGGGGAGACT	0.517													A	34102718	G	A	34102718	2	1	19	1	0	0	0	0	0	0	0	1	13770	1190	42	2		2	RYR3	15	34102718	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	112629	34102718	68428674	2353	16652											
SLC12A6	9990	broad.mit.edu	37	chr15	34529748	34529748	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtatgctgcactttcgccAcacctgagagagtgacatac	9	13	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:34529748A>G	uc001zhw.2	-	21	2970	c.2806T>C	c.(2806-2808)TGG>CGG	p.W936R	SLC12A6_uc001zhv.2_Missense_Mutation_p.W885R|SLC12A6_uc001zhx.2_Missense_Mutation_p.W921R|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.W877R|SLC12A6_uc001zib.2_Missense_Mutation_p.W927R|SLC12A6_uc001zic.2_Missense_Mutation_p.W936R|SLC12A6_uc010bau.2_Missense_Mutation_p.W936R|SLC12A6_uc001zid.2_Missense_Mutation_p.W877R|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.W748R	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	936	Cytoplasmic (Potential).				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CACTTTCGCCACACCTGAGAG	0.418													G	34529748	A	G	34529748	3	3	19	1	0	0	0	0	1	0	0	0	14387	159	6	3	666	3	SLC12A6	15	34529748	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	427030	34529748	68001644	2354	16653											
ACTC1	70	broad.mit.edu	37	chr15	35086915	35086915	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcccacgatggacgggaagAcagcgcggggcgcgtcatcg	18	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:35086915A>G	uc001ziu.1	-	2	338	c.95T>C	c.(94-96)GTC>GCC	p.V32A	uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	cardiac muscle alpha actin 1 proprotein	32					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GGACGGGAAGACAGCGCGGGG	0.682													G	35086915	A	G	35086915	3	3	19	1	0	0	0	0	1	0	0	0	195	275	10	3	1062	3	ACTC1	15	35086915	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	557167	35086915	67444477	2355	16654											
AQR	9716	broad.mit.edu	37	chr15	35224524	35224524	+	Frame_Shift_Del	DEL	A	A	-													tacatcaatattcacctgggAaaaaagatggccatcctctt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:35224524delA	uc001ziv.2	-	11	1076	c.895delT	c.(895-897)TCCfs	p.S299fs		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	299						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTCACCTGGGAAAAAAGATGG	0.398													-	35224524	A	-	35224524	7	5	19	1	0	1	0	1	0	0	0	0	835	246	9	0	3662	0	AQR	15	35224524	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	137609	35224524	67306868	2356	16655											
FAM98B	283742	broad.mit.edu	37	chr15	38756237	38756237	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttcttcctttctaggtatAaaggaccattgttagaagag	8	6	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:38756237A>G	uc001zkb.1	+	2	111	c.76A>G	c.(76-78)AAA>GAA	p.K26E	FAM98B_uc001zkc.2_Missense_Mutation_p.K26E	NM_001042429	NP_001035894	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	26						tRNA-splicing ligase complex	protein binding			ovary(1)	1		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		TTCTAGGTATAAAGGACCATT	0.338													G	38756237	A	G	38756237	3	3	19	1	0	0	0	0	1	0	0	0	5657	363	13	3	82	3	FAM98B	15	38756237	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3531713	38756237	63775155	2357	16656											
THBS1	7057	broad.mit.edu	37	chr15	39874866	39874866	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggagaatgctgagttggaCgtccccatccaaagcgtctt	11	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:39874866C>T	uc001zkh.2	+	3	719	c.540C>T	c.(538-540)GAC>GAT	p.D180D		NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	180	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTGAGTTGGACGTCCCCATCC	0.562													T	39874866	C	T	39874866	2	4	19	1	0	0	0	0	0	0	0	1	15850	535	19	1		1	THBS1	15	39874866	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1118629	39874866	62656526	2358	16657											
THBS1	7057	broad.mit.edu	37	chr15	39877747	39877747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagttcctgatggagaatGctgtcctcgctgttggcgta	12	10	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:39877747G>A	uc001zkh.2	+	7	1282	c.1103G>A	c.(1102-1104)TGC>TAC	p.C368Y		NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	368	VWFC.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GATGGAGAATGCTGTCCTCGC	0.502													A	39877747	G	A	39877747	3	1	19	1	0	0	0	0	1	0	0	0	15850	1319	46	2	1125	2	THBS1	15	39877747	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2881	39877747	62653645	2359	16658											
CASC5	57082	broad.mit.edu	37	chr15	40915672	40915672	+	Frame_Shift_Del	DEL	A	A	-													agaagaaaaagccttaagctAaaaaatgacaagaccattgt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:40915671_40915671TA>T	uc010bbs.1	+	10	3448	c.3287_3287TA>T	c.(3286-3288)ctafs	p.L1096fs	CASC5_uc010ucq.1_Frame_Shift_Del_p.L920fs|CASC5_uc001zme.3_Frame_Shift_Del_p.L1070fs|CASC5_uc010bbt.1_Frame_Shift_Del_p.L1070fs	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	1096	2 X 104 AA approximate repeats.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGCCTTAAGCTAAAAAATGAC	0.353													-	40915672	A	-	40915672	7	5	19	1	0	1	0	1	0	0	0	0	2663	349	13	0	3326	0	CASC5	15	40915672	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	1037925	40915672	61615720	2360	16659											
DNAJC17	55192	broad.mit.edu	37	chr15	41068826	41068826	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgctcccgggcctccaggtCtagacacaagggttgaatga	12	13	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:41068826C>T	uc001zms.1	-	5	307	c.296_splice	c.e5-1	p.D99_splice	DNAJC17_uc010bbz.1_Splice_Site|DNAJC17_uc010bca.1_Splice_Site|DNAJC17_uc010bcb.1_Splice_Site	NM_018163	NP_060633	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17						protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding				0		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GCCTCCAGGTCTAGACACAAG	0.617													T	41068826	C	T	41068826	5	4	19	1	0	0	0	0	0	0	1	0	4636	927	32	4	647	4	DNAJC17	15	41068826	Splice_Site	SNP	C	TCGA-BR-4361-01A-01D-1158-08	153154	41068826	61462566	2361	16660											
RPAP1	26015	broad.mit.edu	37	chr15	41812933	41812933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaggcgggcagcaggggGcacagcccagagagcctggg	19	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:41812933G>A	uc001zod.2	-	22	3575	c.3451C>T	c.(3451-3453)CCC>TCC	p.P1151S	RPAP1_uc001zoc.2_Missense_Mutation_p.P170S	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1151	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCAGCAGGGGGCACAGCCCAG	0.657													A	41812933	G	A	41812933	3	1	19	1	0	0	0	0	1	0	0	0	13541	1203	42	2	746	2	RPAP1	15	41812933	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	744107	41812933	60718459	2362	16661											
RPAP1	26015	broad.mit.edu	37	chr15	41815100	41815101	+	Frame_Shift_Ins	INS	-	-	G													cagcccagtgacacgaggctINSggggggagcttcaagggctg					rs150273751	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:41815100_41815101insG	uc001zod.2	-	19	2728_2729	c.2604_2605insC	c.(2602-2607)CCCAGCfs	p.P868fs	RPAP1_uc001zoc.2_Intron	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	868_869	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GACACGAGGCTGGGGGGAGCTT	0.634													G	41815101	-	G	41815100	7	5	19	1	0	1	1	0	0	0	0	0	13541	1580	55	0	1604	0	RPAP1	15	41815100	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	2167	41815100	60716292	2363	16662	56	2									
RPAP1	26015	broad.mit.edu	37	chr15	41815101	41815102	+	Frame_Shift_Ins	INS	-	-	G													agcccagtgacacgaggctgINSgggggagcttcaagggctgg					rs150273751	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:41815100_41815101T>TG	uc001zod.3	-	18	2728_2729	c.2604_2605A>CA	c.(2602-2607)cccagcfs	p.P868fs		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	868	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GACACGAGGCTGGGGGGAGCTT	0.634													G	41815102	-	G	41815101	7	5	19	1	0	1	1	0	0	0	0	0	13541	1335	47	0	1605	0	RPAP1	15	41815101	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	1	41815101	60716291	2364	16663	56	2									
RPAP1	26015	broad.mit.edu	37	chr15	41817238	41817238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagccacagcccacagacGgagggcctcggtgctcagca	14	15	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:41817238G>A	uc001zod.2	-	15	2150	c.2026C>T	c.(2026-2028)CGT>TGT	p.R676C	RPAP1_uc001zoc.2_5'Flank	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	676						nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCCCACAGACGGAGGGCCTCG	0.622													A	41817238	G	A	41817238	3	1	19	1	0	0	0	0	1	0	0	0	13541	1116	39	1	2199	1	RPAP1	15	41817238	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2137	41817238	60714154	2365	16664											
SPTBN5	51332	broad.mit.edu	37	chr15	42170739	42170739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccgggcccgttgggccaCttgttcctgtacttgcttca	12	14	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:42170739C>T	uc001zos.2	-	17	3499	c.3166G>A	c.(3166-3168)GTG>ATG	p.V1056M		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1091					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGTTGGGCCACTTGTTCCTGT	0.637													T	42170739	C	T	42170739	3	4	19	1	0	0	0	0	1	0	0	0	15121	565	20	4	7961	4	SPTBN5	15	42170739	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	353501	42170739	60360653	2366	16665											
PLA2G4E	123745	broad.mit.edu	37	chr15	42275979	42275981	+	In_Frame_Del	DEL	CTT	CTT	-													ggacactggcccttcaggcgCttcttcttctccactgcgag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:42275979_42275981delCTT	uc001zow.1	-	19	2491_2493	c.2491_2493delAAG	c.(2491-2493)AAGdel	p.K831del	PLA2G4E_uc010udc.1_In_Frame_Del_p.K303del|PLA2G4E_uc001zov.1_In_Frame_Del_p.K484del	NM_001080490	NP_001073959	Q3MJ16	PA24E_HUMAN	phospholipase A2, group 4E	848	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity				0		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CCTTCAGGCGCTTCTTCTTCTCC	0.571													-	42275981	CTT	-	42275979	7	5	19	1	0	1	0	1	0	0	0	0	12005	796	28	0	30	0	PLA2G4E	15	42275979	In_Frame_Del	DEL	CTT	TCGA-BR-4361-01A-01D-1158-08	105240	42275979	60255413	2367	16666											
PLA2G4F	255189	broad.mit.edu	37	chr15	42442320	42442320	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctcatttccaccttcatgCtcagagccacctcctggccc	5	19	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:42442320C>A	uc001zoz.2	-	10	968	c.905G>T	c.(904-906)AGC>ATC	p.S302I	PLA2G4F_uc001zoy.2_5'Flank|PLA2G4F_uc010bcr.2_Missense_Mutation_p.S53I|PLA2G4F_uc001zpa.2_Missense_Mutation_p.S53I|PLA2G4F_uc010bcs.2_Missense_Mutation_p.S89I	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	302					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			ovary(4)	4		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CACCTTCATGCTCAGAGCCAC	0.602													A	42442320	C	A	42442320	3	1	19	1	0	0	0	0	1	0	0	0	12006	797	28	5	1688	5	PLA2G4F	15	42442320	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	166341	42442320	60089072	2368	16667											
ZFP106	64397	broad.mit.edu	37	chr15	42743616	42743616	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattagatttcttgttccatAgcatagtcatgtcttccatt	5	8	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:42743616A>G	uc001zpw.2	-	2	1120	c.785T>C	c.(784-786)CTA>CCA	p.L262P	ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.L45P|ZFP106_uc001zpy.1_Missense_Mutation_p.L285P	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	262						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		CTTGTTCCATAGCATAGTCAT	0.373													G	42743616	A	G	42743616	3	3	19	1	0	0	0	0	1	0	0	0	17634	420	15	3	4938	3	ZFP106	15	42743616	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	301296	42743616	59787776	2369	16668											
LRRC57	255252	broad.mit.edu	37	chr15	42840347	42840347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctcttcagcagagtgaaCtttcctatcagcaaaggcgg	11	10	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:42840347C>T	uc001zqd.1	-	2	548	c.180G>A	c.(178-180)AAG>AAA	p.K60K	HAUS2_uc001zqe.2_5'Flank|HAUS2_uc010udi.1_5'Flank|HAUS2_uc001zqf.2_5'Flank|LRRC57_uc001zqc.2_Silent_p.K60K	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	60	LRR 1.										0		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		GCAGAGTGAACTTTCCTATCA	0.512													T	42840347	C	T	42840347	2	4	19	1	0	0	0	0	0	0	0	1	9013	564	20	4		4	LRRC57	15	42840347	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	96731	42840347	59691045	2370	16669											
CDAN1	146059	broad.mit.edu	37	chr15	43022951	43022951	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcagagtccgcacatccagGaccggagggacctgggaggg	17	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:43022951G>A	uc001zql.2	-	14	2136	c.2019C>T	c.(2017-2019)GTC>GTT	p.V673V	CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_5'UTR	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	673						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GCACATCCAGGACCGGAGGGA	0.642													A	43022951	G	A	43022951	2	1	19	1	0	0	0	0	0	0	0	1	3054	1161	41	4		4	CDAN1	15	43022951	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	182604	43022951	59508441	2371	16670											
EPB42	2038	broad.mit.edu	37	chr15	43500866	43500866	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctctggccttctccgttctGaagtccctcctcattatagt	6	14	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:43500866G>A	uc001zra.3	-	7	1240	c.940C>T	c.(940-942)CAG>TAG	p.Q314*	EPB42_uc001zqz.3_5'UTR|EPB42_uc010bde.2_Nonsense_Mutation_p.Q159*|EPB42_uc001zrb.3_Nonsense_Mutation_p.Q344*|EPB42_uc010udm.1_Nonsense_Mutation_p.Q236*	NM_001114134	NP_001107606	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2 isoform 2	314					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			ovary(2)	2		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TCTCCGTTCTGAAGTCCCTCC	0.567													A	43500866	G	A	43500866	4	1	19	1	0	0	0	0	0	1	0	0	5158	1299	45	4	1163	4	EPB42	15	43500866	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	477915	43500866	59030526	2372	16671											
TP53BP1	7158	broad.mit.edu	37	chr15	43724632	43724632	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctttcaatcaaggccttActaggattttccttattagt	7	9	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:43724632A>G	uc001zrs.2	-	17	3568	c.3420T>C	c.(3418-3420)AGT>AGC	p.S1140S	TP53BP1_uc010udp.1_Silent_p.S1140S|TP53BP1_uc001zrq.3_Silent_p.S1145S|TP53BP1_uc001zrr.3_Silent_p.S1145S|TP53BP1_uc010udq.1_Silent_p.S1145S	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1140					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCAAGGCCTTACTAGGATTTT	0.468								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					G	43724632	A	G	43724632	2	3	19	1	0	0	0	0	0	0	0	1	16380	388	14	3		3	TP53BP1	15	43724632	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	223766	43724632	58806760	2373	16672											
PDIA3	2923	broad.mit.edu	37	chr15	44057709	44057709	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggacaagactgtggcaTatacagagcaaaaaatgacc	10	7	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:44057709T>C	uc001zsu.2	+	6	812	c.664T>C	c.(664-666)TAT>CAT	p.Y222H	PDIA3_uc010bdp.2_Missense_Mutation_p.Y202H|PDIA3_uc010ued.1_5'UTR	NM_005313	NP_005304	P30101	PDIA3_HUMAN	protein disulfide-isomerase A3 precursor	222					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)|skin(1)	2		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GACTGTGGCATATACAGAGCA	0.348													C	44057709	T	C	44057709	3	2	19	1	0	0	0	0	1	0	0	0	11669	1406	49	3	686	3	PDIA3	15	44057709	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	333077	44057709	58473683	2374	16673											
SPG11	80208	broad.mit.edu	37	chr15	44944092	44944092	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggaaacctccagtttggaGttctttattgtttcattcaa	7	8	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:44944092G>C	uc001ztx.2	-	6	1084	c.1053C>G	c.(1051-1053)AAC>AAG	p.N351K	SPG11_uc010ueh.1_Missense_Mutation_p.N351K|SPG11_uc010uei.1_Missense_Mutation_p.N351K|SPG11_uc001zua.1_Missense_Mutation_p.N351K	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	351	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CCAGTTTGGAGTTCTTTATTG	0.418													C	44944092	G	C	44944092	3	2	19	1	0	0	0	0	1	0	0	0	15040	1020	36	5	6418	5	SPG11	15	44944092	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	886383	44944092	57587300	2375	16674											
DUOX2	50506	broad.mit.edu	37	chr15	45404884	45404884	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgatacacaccgtcggcgtAattggctggtacgcggcgct	13	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:45404884A>G	uc010bea.2	-	4	396	c.193T>C	c.(193-195)TAC>CAC	p.Y65H	DUOX2_uc001zun.2_Missense_Mutation_p.Y65H|DUOXA2_uc001zuo.2_5'Flank|DUOXA2_uc010beb.2_5'Flank	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	65	Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCGTCGGCGTAATTGGCTGGT	0.682													G	45404884	A	G	45404884	3	3	19	1	0	0	0	0	1	0	0	0	4801	362	13	3	4577	3	DUOX2	15	45404884	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	460792	45404884	57126508	2376	16675											
SLC28A2	9153	broad.mit.edu	37	chr15	45564563	45564563	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctcttcacaggggcctgTgtatcccttatcagtgcctg	10	14	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:45564563T>C	uc001zva.2	+	16	1784	c.1719T>C	c.(1717-1719)TGT>TGC	p.C573C		NM_004212	NP_004203	O43868	S28A2_HUMAN	solute carrier family 28 (sodium-coupled	573	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			ovary(4)	4		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		CAGGGGCCTGTGTATCCCTTA	0.483													C	45564563	T	C	45564563	2	2	19	1	0	0	0	0	0	0	0	1	14532	1702	59	3		3	SLC28A2	15	45564563	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	159679	45564563	56966829	2377	16676											
SLC12A1	6557	broad.mit.edu	37	chr15	48518768	48518768	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaacgggtttgttcgtggaGgtaaaatctctaagatatct	10	6	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:48518768G>T	uc001zwn.3	+	5	940	c.724G>T	c.(724-726)GGT>TGT	p.G242C	SLC12A1_uc010uew.1_Missense_Mutation_p.G48C|SLC12A1_uc010bem.2_Intron|SLC12A1_uc010uex.1_Missense_Mutation_p.G242C|SLC12A1_uc001zwq.3_Translation_Start_Site|SLC12A1_uc001zwr.3_Translation_Start_Site	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	242	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGTTCGTGGAGGTAAAATCTC	0.408													T	48518768	G	T	48518768	3	4	19	1	0	0	0	0	1	0	0	0	14382	1014	35	5	738	5	SLC12A1	15	48518768	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2954205	48518768	54012624	2378	16677											
SLC12A1	6557	broad.mit.edu	37	chr15	48543836	48543836	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagacctgcgtatggaatttAcaacatgtgggtatctcttt	10	7	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:48543836A>G	uc001zwn.3	+	15	2027	c.1811A>G	c.(1810-1812)TAC>TGC	p.Y604C	SLC12A1_uc010uew.1_Missense_Mutation_p.Y410C|SLC12A1_uc010bem.2_Missense_Mutation_p.Y604C|SLC12A1_uc001zwq.3_Missense_Mutation_p.Y375C|SLC12A1_uc001zwr.3_Missense_Mutation_p.Y331C	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	604	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TATGGAATTTACAACATGTGG	0.408													G	48543836	A	G	48543836	3	3	19	1	0	0	0	0	1	0	0	0	14382	391	14	3	1965	3	SLC12A1	15	48543836	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	25068	48543836	53987556	2379	16678											
FBN1	2200	broad.mit.edu	37	chr15	48766477	48766477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtgaagccatcacctgtGtatccttccttgcacagaca	7	13	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:48766477G>A	uc001zwx.1	-	34	4513	c.4185C>T	c.(4183-4185)TAC>TAT	p.Y1395Y		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1395	EGF-like 23; calcium-binding.		Missing (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CATCACCTGTGTATCCTTCCT	0.478													A	48766477	G	A	48766477	2	1	19	1	0	0	0	0	0	0	0	1	5702	1372	48	4		4	FBN1	15	48766477	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	222641	48766477	53764915	2380	16679											
CEP152	22995	broad.mit.edu	37	chr15	49036443	49036443	+	Frame_Shift_Del	DEL	T	T	-													agaattaaacttacatttaaTtttttttacagctttaatgt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:49036442_49036442AT>A	uc001zwz.3	-	23	4023	c.3830_3830AT>T	c.(3829-3831)attfs	p.I1277fs	CEP152_uc001zwy.3_Frame_Shift_Del_p.I1221fs|CEP152_uc001zxa.2_Frame_Shift_Del_p.I1184fs	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	1221					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTTACATTTAATTTTTTTTAC	0.398													-	49036443	T	-	49036443	7	5	19	1	0	1	0	1	0	0	0	0	3248	1493	52	0	1319	0	CEP152	15	49036443	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	269966	49036443	53494949	2381	16680											
COPS2	9318	broad.mit.edu	37	chr15	49447732	49447732	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcctcaccaggtcgtagTcctcctcatcatcgcacatg	8	16	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:49447732T>C	uc001zxf.2	-	1	123	c.44A>G	c.(43-45)GAC>GGC	p.D15G	GALK2_uc001zxi.1_5'Flank|COPS2_uc001zxh.2_Missense_Mutation_p.D15G|COPS2_uc010ufa.1_Missense_Mutation_p.D15G	NM_004236	NP_004227	P61201	CSN2_HUMAN	COP9 constitutive photomorphogenic homolog	15					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		CAGGTCGTAGTCCTCCTCATC	0.502													C	49447732	T	C	49447732	3	2	19	1	0	0	0	0	1	0	0	0	3733	1667	58	3	1360	3	COPS2	15	49447732	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	411289	49447732	53083660	2382	16681											
HDC	3067	broad.mit.edu	37	chr15	50540453	50540453	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctacatacatgtctgacatGtgcttgaagattcttcaccc	7	11	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:50540453G>C	uc001zxz.2	-	10	1235	c.1129C>G	c.(1129-1131)CAT>GAT	p.H377D	HDC_uc001zxy.2_Missense_Mutation_p.H120D|HDC_uc010uff.1_Intron	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	377					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TGTCTGACATGTGCTTGAAGA	0.517													C	50540453	G	C	50540453	3	2	19	1	0	0	0	0	1	0	0	0	7015	1377	48	5	871	5	HDC	15	50540453	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1092721	50540453	51990939	2383	16682											
USP8	9101	broad.mit.edu	37	chr15	50785029	50785029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaaatacttgttatatgaActcaatattgcagtgcctat	7	6	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:50785029A>G	uc001zym.3	+	16	2866	c.2366A>G	c.(2365-2367)AAC>AGC	p.N789S	USP8_uc001zyl.3_Missense_Mutation_p.N789S|USP8_uc001zyn.3_Missense_Mutation_p.N789S|USP8_uc010ufh.1_Missense_Mutation_p.N683S|uc001zyo.1_RNA|USP8_uc001zyp.3_5'Flank	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	789					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TGTTATATGAACTCAATATTG	0.388													G	50785029	A	G	50785029	3	3	19	1	0	0	0	0	1	0	0	0	17086	43	2	3	2420	3	USP8	15	50785029	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	244576	50785029	51746363	2384	16683											
TRPM7	54822	broad.mit.edu	37	chr15	50888464	50888464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcttacttgaaaaatgcaAtaagaagattaaccataatg	5	5	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:50888464A>G	uc001zyt.3	-	23	3542	c.3278T>C	c.(3277-3279)ATT>ACT	p.I1093T	TRPM7_uc010bew.1_Missense_Mutation_p.I1093T	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1093	Helical; (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GAAAAATGCAATAAGAAGATT	0.303													G	50888464	A	G	50888464	3	3	19	1	0	0	0	0	1	0	0	0	16588	101	4	3	2387	3	TRPM7	15	50888464	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	103435	50888464	51642928	2385	16684											
TRPM7	54822	broad.mit.edu	37	chr15	50899395	50899395	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagaaaaaaactaaagacatAcctcacggactttctcaatg	5	9	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:50899395A>G	uc001zyt.3	-	20	2973	c.2709_splice	c.e20+1	p.E903_splice	TRPM7_uc010bew.1_Splice_Site_p.E903_splice|TRPM7_uc001zyu.2_Splice_Site_p.E461_splice	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,						cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CTAAAGACATACCTCACGGAC	0.338													G	50899395	A	G	50899395	5	3	19	1	0	0	0	0	0	0	1	0	16588	405	14	3	2966	3	TRPM7	15	50899395	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	10931	50899395	51631997	2386	16685											
TRPM7	54822	broad.mit.edu	37	chr15	50931740	50931740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatctccaacatgttttgCcacacctgttcataaaaaaa	5	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:50931740C>T	uc001zyt.3	-	6	805	c.541G>A	c.(541-543)GCA>ACA	p.A181T	TRPM7_uc010bew.1_Missense_Mutation_p.A181T	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	181	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ACATGTTTTGCCACACCTGTT	0.254													T	50931740	C	T	50931740	3	4	19	1	0	0	0	0	1	0	0	0	16588	739	26	2	5192	2	TRPM7	15	50931740	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	32345	50931740	51599652	2387	16686											
AP4E1	23431	broad.mit.edu	37	chr15	51207723	51207723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctttggctatattcatGcaatcaagttagcccaacaa	5	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:51207723G>A	uc001zyx.1	+	3	331	c.301G>A	c.(301-303)GCA>ACA	p.A101T	AP4E1_uc010ufi.1_Missense_Mutation_p.A101T|AP4E1_uc010ufj.1_RNA|AP4E1_uc010ufk.1_RNA	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	101					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CTATATTCATGCAATCAAGTT	0.343													A	51207723	G	A	51207723	3	1	19	1	0	0	0	0	1	0	0	0	752	1319	46	2	311	2	AP4E1	15	51207723	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	275983	51207723	51323669	2388	16687											
CYP19A1	1588	broad.mit.edu	37	chr15	51503127	51503127	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctcaacacactgtccttGcaatgtcttcacgtggaatc	7	13	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:51503127G>A	uc001zyz.3	-	11	1641	c.1390C>T	c.(1390-1392)CAA>TAA	p.Q464*	CYP19A1_uc001zza.3_Nonsense_Mutation_p.Q464*	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	464					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CACTGTCCTTGCAATGTCTTC	0.478													A	51503127	G	A	51503127	4	1	19	1	0	0	0	0	0	1	0	0	4148	1328	46	2	125	2	CYP19A1	15	51503127	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	295404	51503127	51028265	2389	16688											
DMXL2	23312	broad.mit.edu	37	chr15	51830437	51830437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatttcatatgtaaaccccGttctctatcctcctgtgaat	4	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:51830437G>A	uc002abf.2	-	10	1543	c.1318C>T	c.(1318-1320)CGG>TGG	p.R440W	DMXL2_uc010ufy.1_Missense_Mutation_p.R440W|DMXL2_uc010bfa.2_Missense_Mutation_p.R440W	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	440						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		TGTAAACCCCGTTCTCTATCC	0.353													A	51830437	G	A	51830437	3	1	19	1	0	0	0	0	1	0	0	0	4595	1144	40	1	7931	1	DMXL2	15	51830437	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	327310	51830437	50700955	2390	16689											
DMXL2	23312	broad.mit.edu	37	chr15	51856325	51856325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaaatagacactaacttgCactgccagacacacttccaa	5	12	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:51856325C>T	uc002abf.2	-	5	722	c.497G>A	c.(496-498)TGC>TAC	p.C166Y	DMXL2_uc010ufy.1_Missense_Mutation_p.C166Y|DMXL2_uc010bfa.2_Missense_Mutation_p.C166Y	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	166						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		CACTAACTTGCACTGCCAGAC	0.353													T	51856325	C	T	51856325	3	4	19	1	0	0	0	0	1	0	0	0	4595	710	25	2	8772	2	DMXL2	15	51856325	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	25888	51856325	50675067	2391	16690											
MYO5C	55930	broad.mit.edu	37	chr15	52543637	52543637	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttgacattctaggctTttcaaacaaagggttcctgt	9	7	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:52543637T>G	uc010bff.2	-	13	1749	c.1612A>C	c.(1612-1614)AAG>CAG	p.K538Q	MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	538	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		ATTCTAGGCTTTTCAAACAAA	0.403													G	52543637	T	G	52543637	3	3	19	1	0	0	0	0	1	0	0	0	10080	1850	64	5	3732	5	MYO5C	15	52543637	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	687312	52543637	49987755	2392	16691											
MYO5C	55930	broad.mit.edu	37	chr15	52563983	52563983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttaagatgtttaaattccGactgctgtgcagatgcacaa	8	7	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:52563983G>A	uc010bff.2	-	7	946	c.809C>T	c.(808-810)TCG>TTG	p.S270L	MYO5C_uc010uga.1_Intron|MYO5C_uc010ugb.1_RNA|MYO5C_uc010ugc.1_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	270	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		TTTAAATTCCGACTGCTGTGC	0.353													A	52563983	G	A	52563983	3	1	19	1	0	0	0	0	1	0	0	0	10080	1059	37	1	4559	1	MYO5C	15	52563983	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	20346	52563983	49967409	2393	16692											
UNC13C	440279	broad.mit.edu	37	chr15	54914556	54914556	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagatgccgtgggtcagatAtctgttcatgtggacatcac	11	8	4	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:54914556A>G	uc002ack.2	+	29	6138	c.6138A>G	c.(6136-6138)ATA>ATG	p.I2046M	UNC13C_uc002acm.2_Translation_Start_Site	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	2046					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGGGTCAGATATCTGTTCATG	0.423													G	54914556	A	G	54914556	3	3	19	1	0	0	0	0	1	0	0	0	16983	439	16	3	6252	3	UNC13C	15	54914556	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2350573	54914556	47616836	2394	16693											
CCPG1	9236	broad.mit.edu	37	chr15	55664072	55664072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaccactactgaactgacGtttactcaactccttagaag	7	11	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:55664072G>A	uc002acv.1	-	6	790	c.625C>T	c.(625-627)CGT>TGT	p.R209C	CCPG1_uc002acy.2_Missense_Mutation_p.R209C|CCPG1_uc002acu.1_Missense_Mutation_p.R65C|CCPG1_uc002acw.1_Translation_Start_Site|CCPG1_uc002acx.2_Missense_Mutation_p.R209C|CCPG1_uc010bfk.1_Missense_Mutation_p.R209C|CCPG1_uc002acz.1_Missense_Mutation_p.R209C	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2	209	Cytoplasmic (Potential).|Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)		CTGAACTGACGTTTACTCAAC	0.428													A	55664072	G	A	55664072	3	1	19	1	0	0	0	0	1	0	0	0	2938	1145	40	1	1660	1	CCPG1	15	55664072	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	749516	55664072	46867320	2395	16694											
NEDD4	4734	broad.mit.edu	37	chr15	56207696	56207696	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccatggtttttgttcatcTgtgaatgtggtctttccaat	8	7	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:56207696T>C	uc002adj.2	-	1	1634	c.1334A>G	c.(1333-1335)CAG>CGG	p.Q445R	NEDD4_uc002adl.2_Intron|NEDD4_uc002adi.2_Missense_Mutation_p.Q445R|NEDD4_uc010ugj.1_Missense_Mutation_p.Q445R|NEDD4_uc010bfm.2_Missense_Mutation_p.Q445R|NEDD4_uc002adk.2_RNA	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	445					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTTGTTCATCTGTGAATGTGG	0.353													C	56207696	T	C	56207696	3	2	19	1	0	0	0	0	1	0	0	0	10310	1580	55	3	2725	3	NEDD4	15	56207696	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	543624	56207696	46323696	2396	16695											
RFX7	64864	broad.mit.edu	37	chr15	56436621	56436621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctctccattgctgagacCagaaggcagctgaaggtaga	11	9	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:56436621C>T	uc010bfn.2	-	3	256	c.256G>A	c.(256-258)GGT>AGT	p.G86S		NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						TTGCTGAGACCAGAAGGCAGC	0.343													T	56436621	C	T	56436621	3	4	19	1	0	0	0	0	1	0	0	0	13268	594	21	4	4154	4	RFX7	15	56436621	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	228925	56436621	46094771	2397	16696											
ZNF280D	54816	broad.mit.edu	37	chr15	56924285	56924285	+	Frame_Shift_Del	DEL	T	T	-													atgaatttgcattacatccaTttttttcttttgaagaagca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:56924284_56924284AT>A	uc002adu.3	-	21	2569	c.2352_2352AT>T	c.(2350-2352)aatfs	p.N784fs	BC037892_uc002ads.3_5'Flank|ZNF280D_uc002adv.3_Frame_Shift_Del_p.N771fs|ZNF280D_uc010bfq.3_Frame_Shift_Del_p.N784fs|ZNF280D_uc002adt.3_Frame_Shift_Del_p.N25fs|ZNF280D_uc010bfp.3_Non-coding_Transcript	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	784					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CATTACATCCATTTTTTTCTT	0.303													-	56924285	T	-	56924285	7	5	19	1	0	1	0	1	0	0	0	0	17814	1493	52	0	592	0	ZNF280D	15	56924285	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	487664	56924285	45607107	2398	16697											
ALDH1A2	8854	broad.mit.edu	37	chr15	58285217	58285217	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttaataactactgtattgcCacagcacaaagctggagcta	7	10	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:58285217C>A	uc002aex.2	-	6	668	c.610G>T	c.(610-612)GGC>TGC	p.G204C	ALDH1A2_uc002aey.2_Missense_Mutation_p.G204C|ALDH1A2_uc010ugv.1_Missense_Mutation_p.G183C|ALDH1A2_uc010ugw.1_Missense_Mutation_p.G175C|ALDH1A2_uc002aew.2_Missense_Mutation_p.G108C	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	204					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ACTGTATTGCCACAGCACAAA	0.463													A	58285217	C	A	58285217	3	1	19	1	0	0	0	0	1	0	0	0	491	594	21	5	978	5	ALDH1A2	15	58285217	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1360932	58285217	44246175	2399	16698											
RNF111	54778	broad.mit.edu	37	chr15	59373220	59373220	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcagactcagcctccGcctcaagtggattatgttat	7	14	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:59373220G>A	uc002afv.2	+	8	2313	c.2034G>A	c.(2032-2034)CCG>CCA	p.P678P	RNF111_uc002afs.2_Silent_p.P678P|RNF111_uc002aft.2_Silent_p.P678P|RNF111_uc002afu.2_Silent_p.P677P|RNF111_uc002afw.2_Silent_p.P678P|RNF111_uc002afx.2_Silent_p.P204P	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	678	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)		CTCAGCCTCCGCCTCAAGTGG	0.483													A	59373220	G	A	59373220	2	1	19	1	0	0	0	0	0	0	0	1	13425	1074	38	1		1	RNF111	15	59373220	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1088003	59373220	43158172	2400	16699											
VPS13C	54832	broad.mit.edu	37	chr15	62219455	62219455	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcctttgtcaggctggcAacaaataccacttctggatc	8	12	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:62219455A>G	uc002agz.2	-	52	6425	c.6351T>C	c.(6349-6351)GTT>GTC	p.V2117V	VPS13C_uc002aha.2_Silent_p.V2074V|VPS13C_uc002ahb.1_Silent_p.V2117V|VPS13C_uc002ahc.1_Silent_p.V2074V	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2117					protein localization					ovary(2)	2						TCAGGCTGGCAACAAATACCA	0.438													G	62219455	A	G	62219455	2	3	19	1	0	0	0	0	0	0	0	1	17188	117	5	3		3	VPS13C	15	62219455	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2846235	62219455	40311937	2401	16700											
TLN2	83660	broad.mit.edu	37	chr15	63055814	63055814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccatcgatggcatcaacCggtgcatccgggacatcgag	11	13	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:63055814C>T	uc002alb.3	+	37	5014	c.5014C>T	c.(5014-5016)CGG>TGG	p.R1672W	TLN2_uc002alc.3_Missense_Mutation_p.R65W|TLN2_uc002ald.2_Missense_Mutation_p.R65W	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1672					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						TGGCATCAACCGGTGCATCCG	0.612													T	63055814	C	T	63055814	3	4	19	1	0	0	0	0	1	0	0	0	15945	643	23	1	5160	1	TLN2	15	63055814	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	836359	63055814	39475578	2402	16701											
HERC1	8925	broad.mit.edu	37	chr15	63956768	63956768	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccacttccagaagctgcatTctctgtatgatccaaattat	5	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:63956768T>C	uc002amp.2	-	43	8729	c.8581A>G	c.(8581-8583)AAT>GAT	p.N2861D		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2861					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						GAAGCTGCATTCTCTGTATGA	0.443													C	63956768	T	C	63956768	3	2	19	1	0	0	0	0	1	0	0	0	7057	1783	62	3	6148	3	HERC1	15	63956768	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	900954	63956768	38574624	2403	16702											
SNX22	79856	broad.mit.edu	37	chr15	64446697	64446697	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaccctgctcctctgccacCgatgccctgatcagtccaga	7	18	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:64446697C>A	uc002anc.1	+	7	631	c.572C>A	c.(571-573)CCG>CAG	p.P191Q	SNX22_uc002amz.1_3'UTR|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA	NM_024798	NP_079074	Q96L94	SNX22_HUMAN	sorting nexin 22	191				P -> L (in Ref. 2; BAB14776).	cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding				0						CCTCTGCCACCGATGCCCTGA	0.572													A	64446697	C	A	64446697	3	1	19	1	0	0	0	0	1	0	0	0	14894	652	23	5	598	5	SNX22	15	64446697	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	489929	64446697	38084695	2404	16703											
PLEKHO2	80301	broad.mit.edu	37	chr15	65157253	65157253	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaagcctttcctagcaccTgagaccaccagccctggtga	8	16	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:65157253T>C	uc002anv.2	+	6	773	c.639T>C	c.(637-639)CCT>CCC	p.P213P	PLEKHO2_uc010bgz.2_Intron|PLEKHO2_uc002anw.2_Silent_p.P163P	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O	213	Pro-rich.									ovary(1)|lung(1)	2						TCCTAGCACCTGAGACCACCA	0.632													C	65157253	T	C	65157253	2	2	19	1	0	0	0	0	0	0	0	1	12085	1567	55	3		3	PLEKHO2	15	65157253	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	710556	65157253	37374139	2405	16704											
PARP16	54956	broad.mit.edu	37	chr15	65559078	65559078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaacaggcgtgtgaggaGccccagtcagcttttggatc	14	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:65559078G>A	uc002aoo.2	-	3	595	c.341C>T	c.(340-342)GCT>GTT	p.A114V	PARP16_uc002aop.2_Intron|PARP16_uc002aoq.2_Missense_Mutation_p.A114V	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	114	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			lung(2)	2						CGTGTGAGGAGCCCCAGTCAG	0.438													A	65559078	G	A	65559078	3	1	19	1	0	0	0	0	1	0	0	0	11460	971	34	2	646	2	PARP16	15	65559078	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	401825	65559078	36972314	2406	16705											
MEGF11	84465	broad.mit.edu	37	chr15	66416333	66416333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgattcctggacagtcacaGcatagctgagaaccagatgg	11	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:66416333G>A	uc002apm.2	-	3	245	c.104C>T	c.(103-105)GCT>GTT	p.A35V	MEGF11_uc002apl.2_5'UTR|MEGF11_uc002apn.1_Missense_Mutation_p.A35V	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11 precursor	35	EMI.					basolateral plasma membrane|integral to membrane				pancreas(1)	1						GACAGTCACAGCATAGCTGAG	0.532													A	66416333	G	A	66416333	3	1	19	1	0	0	0	0	1	0	0	0	9461	971	34	2	3114	2	MEGF11	15	66416333	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	857255	66416333	36115059	2407	16706											
MAP2K1	5604	broad.mit.edu	37	chr15	66774157	66774157	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagctctgtgactttggggtCagcgggcagctcatcgactc	13	11	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:66774157C>T	uc010bhq.2	+	6	1108	c.633C>T	c.(631-633)GTC>GTT	p.V211V	MAP2K1_uc010ujp.1_Silent_p.V189V	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	211	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						ACTTTGGGGTCAGCGGGCAGC	0.517									Cardiofaciocutaneous_syndrome				T	66774157	C	T	66774157	2	4	19	1	0	0	0	0	0	0	0	1	9236	813	29	4		4	MAP2K1	15	66774157	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	357824	66774157	35757235	2408	16707											
SMAD3	4088	broad.mit.edu	37	chr15	67457298	67457298	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtcatctactgccgccTgtggcgatggccagacctgc	11	14	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:67457298T>C	uc002aqj.2	+	2	570	c.272T>C	c.(271-273)CTG>CCG	p.L91P	SMAD3_uc010ujr.1_5'UTR|SMAD3_uc010ujs.1_Missense_Mutation_p.L47P|SMAD3_uc010ujt.1_5'Flank	NM_005902	NP_005893	P84022	SMAD3_HUMAN	mothers against decapentaplegic homolog 3	91	MH1.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		TACTGCCGCCTGTGGCGATGG	0.612													C	67457298	T	C	67457298	3	2	19	1	0	0	0	0	1	0	0	0	14759	1580	55	3	356	3	SMAD3	15	67457298	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	683141	67457298	35074094	2409	16708											
TLE3	7090	broad.mit.edu	37	chr15	70342461	70342461	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatgacctcataaactgtgGccttcttgtcaccagagcct	8	12	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:70342461G>T	uc002asm.2	-	20	3413	c.2294C>A	c.(2293-2295)GCC>GAC	p.A765D	TLE3_uc002ask.2_Missense_Mutation_p.A692D|TLE3_uc002asl.2_Missense_Mutation_p.A765D|TLE3_uc010ukd.1_Missense_Mutation_p.A755D|TLE3_uc010bik.1_Missense_Mutation_p.A346D|TLE3_uc010bil.1_Missense_Mutation_p.A762D|TLE3_uc002asn.2_Missense_Mutation_p.A753D|TLE3_uc002asp.2_Missense_Mutation_p.A757D|TLE3_uc002aso.2_Missense_Mutation_p.A760D	NM_005078	NP_005069	Q04726	TLE3_HUMAN	transducin-like enhancer protein 3 isoform a	765	WD 7.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding			lung(2)	2						ATAAACTGTGGCCTTCTTGTC	0.507													T	70342461	G	T	70342461	3	4	19	1	0	0	0	0	1	0	0	0	15937	1203	42	5	28	5	TLE3	15	70342461	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2885163	70342461	32188931	2410	16709											
UACA	55075	broad.mit.edu	37	chr15	70961720	70961720	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttcattttcagagtatgAcgtttgactgggtaaagata	9	4	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:70961720A>G	uc002asr.2	-	16	1407	c.1303T>C	c.(1303-1305)TCA>CCA	p.S435P	UACA_uc010uke.1_Missense_Mutation_p.S326P|UACA_uc002asq.2_Missense_Mutation_p.S422P|UACA_uc010bin.1_Missense_Mutation_p.S410P	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	435						cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						TCAGAGTATGACGTTTGACTG	0.383													G	70961720	A	G	70961720	3	3	19	1	0	0	0	0	1	0	0	0	16821	275	10	3	2963	3	UACA	15	70961720	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	619259	70961720	31569672	2411	16710											
UACA	55075	broad.mit.edu	37	chr15	70980154	70980154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgctagaaggacaatctgCcattgctttaaggaacaaaa	8	7	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:70980154C>T	uc002asr.2	-	6	534	c.430G>A	c.(430-432)GCA>ACA	p.A144T	UACA_uc010uke.1_Missense_Mutation_p.A144T|UACA_uc002asq.2_Missense_Mutation_p.A131T|UACA_uc010bin.1_Missense_Mutation_p.A130T	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	144	ANK 4.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						GGACAATCTGCCATTGCTTTA	0.353													T	70980154	C	T	70980154	3	4	19	1	0	0	0	0	1	0	0	0	16821	739	26	2	3876	2	UACA	15	70980154	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	18434	70980154	31551238	2412	16711											
MYO9A	4649	broad.mit.edu	37	chr15	72172765	72172765	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaatgcatagaatccaAagccacgttgctaatcttca	6	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:72172765A>G	uc002atl.3	-	29	6006	c.5533T>C	c.(5533-5535)TTG>CTG	p.L1845L	MYO9A_uc002atk.2_Silent_p.L640L|MYO9A_uc002atm.1_Silent_p.L641L	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1845	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						ATAGAATCCAAAGCCACGTTG	0.428													G	72172765	A	G	72172765	2	3	19	1	0	0	0	0	0	0	0	1	10084	11	1	3		3	MYO9A	15	72172765	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1192611	72172765	30358627	2413	16712											
MYO9A	4649	broad.mit.edu	37	chr15	72192132	72192132	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggctttccatcttgcttgTatgcaaatagcagccatgtg	9	9	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:72192132T>C	uc002atl.3	-	24	3839	c.3366A>G	c.(3364-3366)ATA>ATG	p.I1122M	MYO9A_uc010biq.2_Missense_Mutation_p.I742M|MYO9A_uc002atn.1_Missense_Mutation_p.I1103M|MYO9A_uc002atk.2_5'Flank|MYO9A_uc002atm.1_5'Flank	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1122	IQ 4.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						ATCTTGCTTGTATGCAAATAG	0.443													C	72192132	T	C	72192132	3	2	19	1	0	0	0	0	1	0	0	0	10084	1628	57	3	4356	3	MYO9A	15	72192132	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	19367	72192132	30339260	2414	16713											
CD276	80381	broad.mit.edu	37	chr15	73994824	73994824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggacctgctggcacaggGcaacgcatccctgaggctgc	13	16	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:73994824G>A	uc002avv.1	+	3	542	c.308G>A	c.(307-309)GGC>GAC	p.G103D	CD276_uc010bjd.1_5'UTR|CD276_uc002avu.1_Missense_Mutation_p.G103D|CD276_uc002avw.1_Missense_Mutation_p.G103D|CD276_uc010ulb.1_Missense_Mutation_p.G49D|CD276_uc002avx.2_5'Flank	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	CD276 antigen isoform a	103	Ig-like V-type 1.|Extracellular (Potential).				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			skin(1)	1						CTGGCACAGGGCAACGCATCC	0.657													A	73994824	G	A	73994824	3	1	19	1	0	0	0	0	1	0	0	0	2992	1203	42	2	314	2	CD276	15	73994824	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1802692	73994824	28536568	2415	16714											
CD276	80381	broad.mit.edu	37	chr15	73995270	73995270	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgactggcaacgtgaccacGtcgcagatggccaacgagca	12	13	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:73995270G>A	uc002avv.1	+	4	810	c.576G>A	c.(574-576)ACG>ACA	p.T192T	CD276_uc010bjd.1_Silent_p.T46T|CD276_uc002avu.1_Silent_p.T192T|CD276_uc002avw.1_Intron|CD276_uc010ulb.1_Silent_p.T138T|CD276_uc002avx.2_5'Flank	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	CD276 antigen isoform a	192	Extracellular (Potential).|Ig-like C2-type 1.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			skin(1)	1						ACGTGACCACGTCGCAGATGG	0.627													A	73995270	G	A	73995270	2	1	19	1	0	0	0	0	0	0	0	1	2992	1132	40	1		1	CD276	15	73995270	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	446	73995270	28536122	2416	16715											
CYP11A1	1583	broad.mit.edu	37	chr15	74635445	74635445	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacacttcctttctgtctcAattcccagtagaagttctgg	7	11	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:74635445A>G	uc002axt.2	-	5	1018	c.863T>C	c.(862-864)TTG>TCG	p.L288S	CYP11A1_uc002axs.2_Missense_Mutation_p.L130S|CYP11A1_uc010bjm.1_Missense_Mutation_p.L130S|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjo.1_Missense_Mutation_p.L288S|CYP11A1_uc010bjp.1_Intron|CYP11A1_uc010ulj.1_Missense_Mutation_p.L68S	NM_000781	NP_000772	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A,	288					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			ovary(2)	2					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TTTCTGTCTCAATTCCCAGTA	0.522													G	74635445	A	G	74635445	3	3	19	1	0	0	0	0	1	0	0	0	4144	131	5	3	722	3	CYP11A1	15	74635445	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	640175	74635445	27895947	2417	16716											
CLK3	1198	broad.mit.edu	37	chr15	74922144	74922144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccagcgcatcacactggccGaggccctgctgcaccccttc	9	20	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:74922144G>A	uc010uln.1	+	13	2298	c.1837G>A	c.(1837-1839)GAG>AAG	p.E613K	CLK3_uc002ayg.3_Missense_Mutation_p.E465K|CLK3_uc002ayh.3_Missense_Mutation_p.E244K|CLK3_uc002ayj.3_Missense_Mutation_p.E442K|CLK3_uc002ayk.3_Missense_Mutation_p.E392K|CLK3_uc002ayl.3_Missense_Mutation_p.E298K	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	613	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						CACACTGGCCGAGGCCCTGCT	0.602													A	74922144	G	A	74922144	3	1	19	1	0	0	0	0	1	0	0	0	3538	1059	37	1	1887	1	CLK3	15	74922144	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	286699	74922144	27609248	2418	16717											
EDC3	80153	broad.mit.edu	37	chr15	74948135	74948135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcgatagacaatgggctcGgactccaagatgttctcatc	10	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:74948135G>A	uc002ayn.2	-	7	1247	c.759C>T	c.(757-759)TCC>TCT	p.S253S	EDC3_uc002ayo.2_Silent_p.S253S|EDC3_uc002aym.2_Silent_p.S253S	NM_001142443	NP_001135915	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	253	Required for interaction with DDX6 (By similarity).				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1						CAATGGGCTCGGACTCCAAGA	0.537													A	74948135	G	A	74948135	2	1	19	1	0	0	0	0	0	0	0	1	4907	1103	39	1		1	EDC3	15	74948135	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	25991	74948135	27583257	2419	16718											
CYP1A2	1544	broad.mit.edu	37	chr15	75047376	75047376	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatctacgggctgaccatgAagcacgcccgctgtgaacat	10	14	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:75047376A>G	uc002ayr.1	+	7	1562	c.1498A>G	c.(1498-1500)AAG>GAG	p.K500E		NM_000761	NP_000752	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A,	500					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			ovary(3)|breast(1)	4					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GCTGACCATGAAGCACGCCCG	0.617													G	75047376	A	G	75047376	3	3	19	1	0	0	0	0	1	0	0	0	4150	247	9	3	1520	3	CYP1A2	15	75047376	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	99241	75047376	27484016	2420	16719											
MAN2C1	4123	broad.mit.edu	37	chr15	75648756	75648756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggaagtttaggctgtaGgcagcttggataacgccagc	16	7	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:75648756G>A	uc002baf.2	-	24	2789	c.2772C>T	c.(2770-2772)GCC>GCT	p.A924A	MIR631_hsa-mir-631|MI0003645_5'Flank|MAN2C1_uc002bag.2_Intron|MAN2C1_uc002bah.2_Silent_p.A941A|MAN2C1_uc010bkk.2_Silent_p.A825A	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	924					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						TTAGGCTGTAGGCAGCTTGGA	0.617													A	75648756	G	A	75648756	2	1	19	1	0	0	0	0	0	0	0	1	9218	987	35	4		4	MAN2C1	15	75648756	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	601380	75648756	26882636	2421	16720											
FBXO22	26263	broad.mit.edu	37	chr15	76222269	76222269	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggtccttgtctttggtTataattgctgtaaggtggga	14	4	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:76222269T>C	uc002bbk.2	+	6	778	c.673T>C	c.(673-675)TAT>CAT	p.Y225H	FBXO22_uc002bbj.1_Missense_Mutation_p.Y225H|FBXO22_uc002bbl.2_Missense_Mutation_p.Y121H	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	F-box only protein 22 isoform a	225					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity				0						TGTCTTTGGTTATAATTGCTG	0.408													C	76222269	T	C	76222269	3	2	19	1	0	0	0	0	1	0	0	0	5734	1754	61	3	695	3	FBXO22	15	76222269	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	573513	76222269	26309123	2422	16721											
SCAPER	49855	broad.mit.edu	37	chr15	77134163	77134163	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcaaaaagaaatgcccagTatcgagctcttagatcaatt	6	8	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:77134163T>C	uc002bby.2	-	4	364	c.305A>G	c.(304-306)TAC>TGC	p.Y102C	SCAPER_uc002bbx.2_Translation_Start_Site|SCAPER_uc002bbz.1_Translation_Start_Site|SCAPER_uc002bca.1_Translation_Start_Site|SCAPER_uc002bcb.1_Missense_Mutation_p.Y102C|SCAPER_uc002bcc.1_Missense_Mutation_p.Y102C	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	101						endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						AAATGCCCAGTATCGAGCTCT	0.403													C	77134163	T	C	77134163	3	2	19	1	0	0	0	0	1	0	0	0	13878	1638	57	3	4047	3	SCAPER	15	77134163	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	911894	77134163	25397229	2423	16722											
PSTPIP1	9051	broad.mit.edu	37	chr15	77310814	77310814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggcccaggcggaggagCggtacgggaaggagctggtg	22	8	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:77310814C>T	uc002bcf.2	+	3	604	c.154C>T	c.(154-156)CGG>TGG	p.R52W	PSTPIP1_uc010bkt.1_RNA|PSTPIP1_uc010umo.1_5'UTR|PSTPIP1_uc010bku.1_Missense_Mutation_p.R43W|PSTPIP1_uc002bcg.2_Missense_Mutation_p.R52W|PSTPIP1_uc010bkv.1_RNA|PSTPIP1_uc010bkw.1_Missense_Mutation_p.R52W	NM_003978	NP_003969	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting	52	FCH.				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			ovary(1)	1						GGCGGAGGAGCGGTACGGGAA	0.587													T	77310814	C	T	77310814	3	4	19	1	0	0	0	0	1	0	0	0	12721	759	27	1	164	1	PSTPIP1	15	77310814	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	176651	77310814	25220578	2424	16723											
SGK269	79834	broad.mit.edu	37	chr15	77473490	77473490	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgcgaatctccatggccAacagctcttcatcactctca	5	15	6	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:77473490A>G	uc002bcm.2	-	3	1087	c.779T>C	c.(778-780)TTG>TCG	p.L260S	SGK269_uc002bcn.2_Missense_Mutation_p.L260S	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	260					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		CTCCATGGCCAACAGCTCTTC	0.478													G	77473490	A	G	77473490	3	3	19	1	0	0	0	0	1	0	0	0	14211	131	5	3	4477	3	SGK269	15	77473490	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	162676	77473490	25057902	2425	16724											
LINGO1	84894	broad.mit.edu	37	chr15	77906403	77906403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctcatatcatcttcatgtTgaacttgcggggcgcgtcgg	12	11	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:77906403T>C	uc002bct.1	-	2	1898	c.1846A>G	c.(1846-1848)AAC>GAC	p.N616D	LINGO1_uc002bcu.1_Missense_Mutation_p.N610D	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	616	Cytoplasmic (Potential).				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2						ATCTTCATGTTGAACTTGCGG	0.448													C	77906403	T	C	77906403	3	2	19	1	0	0	0	0	1	0	0	0	8814	1812	63	3	20	3	LINGO1	15	77906403	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	432913	77906403	24624989	2426	16725											
CHRNA5	1138	broad.mit.edu	37	chr15	78873306	78873306	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctcaattggtggatgtggTaggtgtgcatatccttctat	11	6	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:78873306T>C	uc002bdy.2	+	2	420	c.258_splice	c.e2+2	p.V86_splice	CHRNA5_uc002bdz.2_Splice_Site_p.V86_splice	NM_000745	NP_000736	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5						behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GTGGATGTGGTAGGTGTGCAT	0.254													C	78873306	T	C	78873306	5	2	19	1	0	0	0	0	0	0	1	0	3386	1652	57	3	266	3	CHRNA5	15	78873306	Splice_Site	SNP	T	TCGA-BR-4361-01A-01D-1158-08	966903	78873306	23658086	2427	16726											
CHRNB4	1143	broad.mit.edu	37	chr15	78923514	78923514	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgttccaggtcaggcggTaatcagtccattcctggaca	11	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:78923514T>C	uc002bed.1	-	4	375	c.263A>G	c.(262-264)TAC>TGC	p.Y88C	CHRNB4_uc002bee.1_Missense_Mutation_p.Y88C|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	88	Extracellular (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						GGTCAGGCGGTAATCAGTCCA	0.562													C	78923514	T	C	78923514	3	2	19	1	0	0	0	0	1	0	0	0	3393	1638	57	3	1245	3	CHRNB4	15	78923514	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	50208	78923514	23607878	2428	16727											
ADAMTS7	11173	broad.mit.edu	37	chr15	79058757	79058757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagcccaagatctggggCccctatgggggtgtcttcct	16	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:79058757C>T	uc002bej.3	-	19	3707	c.3496G>A	c.(3496-3498)GCC>ACC	p.A1166T	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1166					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						AGATCTGGGGCCCCTATGGGG	0.627													T	79058757	C	T	79058757	3	4	19	1	0	0	0	0	1	0	0	0	271	739	26	2	1588	2	ADAMTS7	15	79058757	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	135243	79058757	23472635	2429	16728											
KIAA1024	23251	broad.mit.edu	37	chr15	79748657	79748657	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttctacacagcttgtctCgatcccaattttccagccac	4	16	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:79748657C>T	uc002bew.1	+	2	243	c.168C>T	c.(166-168)CTC>CTT	p.L56L	KIAA1024_uc010unk.1_Silent_p.L56L	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	56						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						CAGCTTGTCTCGATCCCAATT	0.458													T	79748657	C	T	79748657	2	4	19	1	0	0	0	0	0	0	0	1	8205	871	31	1		1	KIAA1024	15	79748657	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	689900	79748657	22782735	2430	16729											
MESDC2	23184	broad.mit.edu	37	chr15	81282061	81282061	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacccaggcggtggtagcagTagcagcagcagcagcaggtc	16	11	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:81282061T>C	uc002bfy.1	-	1	145	c.72A>G	c.(70-72)CTA>CTG	p.L24L	MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA	NM_015154	NP_055969	Q14696	MESD_HUMAN	mesoderm development candidate 2	24	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum					0						GTGGTagcagtagcagcagca	0.597													C	81282061	T	C	81282061	2	2	19	1	0	0	0	0	0	0	0	1	9481	1625	57	3		3	MESDC2	15	81282061	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1533404	81282061	21249331	2431	16730											
IL16	3603	broad.mit.edu	37	chr15	81585324	81585325	+	Frame_Shift_Del	DEL	AG	AG	-													gaccctcagaagagtctggaAgagagagagaactcctcatg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:81585323_81585324AAG>A	uc021ssh.1	+	10	1948_1949	c.1847_1848AAG>A	c.(1846-1848)gaafs	p.E616fs	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Intron|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Frame_Shift_Del_p.E658fs|IL16_uc021ssg.1_Frame_Shift_Del_p.E616fs|IL16_uc002bgg.3_Frame_Shift_Del_p.E616fs|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.3_Frame_Shift_Del_p.E110fs	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	616					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AAGAGTCTGGAAGAGAGAGAGA	0.505													-	81585325	AG	-	81585324	7	5	19	1	0	1	0	1	0	0	0	0	7633	69	3	0	1890	0	IL16	15	81585324	Frame_Shift_Del	DEL	AG	TCGA-BR-4361-01A-01D-1158-08	303263	81585324	20946068	2432	16731											
BNC1	646	broad.mit.edu	37	chr15	83933080	83933080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttttagtaatagcatccGgacagtttaaacactgatct	6	8	1	1	rs146985300		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:83933080G>A	uc002bjt.1	-	4	1011	c.923C>T	c.(922-924)CCG>CTG	p.P308L	BNC1_uc010uos.1_Missense_Mutation_p.P296L	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	308					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						AATAGCATCCGGACAGTTTAA	0.448													A	83933080	G	A	83933080	3	1	19	1	0	0	0	0	1	0	0	0	1474	1116	39	1	2069	1	BNC1	15	83933080	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2347756	83933080	18598312	2433	16732											
PDE8A	5151	broad.mit.edu	37	chr15	85666327	85666327	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgcgccaggggattatcgAcatggtcttagccacagaaa	11	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:85666327A>G	uc002blh.2	+	19	2177	c.1988A>G	c.(1987-1989)GAC>GGC	p.D663G	PDE8A_uc002bli.2_Missense_Mutation_p.D617G|PDE8A_uc010bnc.2_Missense_Mutation_p.D416G|PDE8A_uc010bnd.2_Missense_Mutation_p.D416G|PDE8A_uc002blj.2_Missense_Mutation_p.D283G|PDE8A_uc002blk.2_Missense_Mutation_p.D283G|PDE8A_uc002bll.2_Missense_Mutation_p.D15G	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	663	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			GGGATTATCGACATGGTCTTA	0.433													G	85666327	A	G	85666327	3	3	19	1	0	0	0	0	1	0	0	0	11653	275	10	3	2062	3	PDE8A	15	85666327	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1733247	85666327	16865065	2434	16733											
AKAP13	11214	broad.mit.edu	37	chr15	86278287	86278287	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgggccgactgtcagcagCcccattgagcaagatgtggt	13	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:86278287C>T	uc002blv.1	+	31	7517	c.7347C>T	c.(7345-7347)AGC>AGT	p.S2449S	AKAP13_uc002blu.1_Silent_p.S2453S|AKAP13_uc002blw.1_Silent_p.S914S|AKAP13_uc002blx.1_Silent_p.S694S	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2449	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						CTGTCAGCAGCCCCATTGAGC	0.502													T	86278287	C	T	86278287	2	4	19	1	0	0	0	0	0	0	0	1	449	738	26	2		2	AKAP13	15	86278287	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	611960	86278287	16253105	2435	16734											
RLBP1	6017	broad.mit.edu	37	chr15	89758315	89758315	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaggtgatttcttgactTtgccagttctcaatgttgaa	8	7	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:89758315T>C	uc002bnl.2	-	6	881	c.501A>G	c.(499-501)CAA>CAG	p.Q167Q		NM_000326	NP_000317	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	167	CRAL-TRIO.				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)	1	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	TTTCTTGACTTTGCCAGTTCT	0.577													C	89758315	T	C	89758315	2	2	19	1	0	0	0	0	0	0	0	1	13388	1838	64	3		3	RLBP1	15	89758315	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	3480028	89758315	12773077	2436	16735											
FANCI	55215	broad.mit.edu	37	chr15	89828419	89828419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggagatgcttaagccaGcaagctgatgttcgactcat	11	8	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:89828419G>A	uc010bnp.1	+	18	1881	c.1791G>A	c.(1789-1791)CAG>CAA	p.Q597Q	FANCI_uc002bnm.1_Silent_p.Q597Q|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Silent_p.Q418Q|FANCI_uc002bnq.1_Silent_p.Q10Q	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	597					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCTTAAGCCAGCAAGCTGATG	0.373								Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				A	89828419	G	A	89828419	2	1	19	1	0	0	0	0	0	0	0	1	5669	962	34	2		2	FANCI	15	89828419	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	70104	89828419	12702973	2437	16736											
POLG	5428	broad.mit.edu	37	chr15	89870444	89870444	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcattggccagatccatcaAcgacttcttcatctcccgct	5	15	5	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:89870444A>G	uc002bns.3	-	7	1669	c.1387T>C	c.(1387-1389)TTG>CTG	p.L463L	POLG_uc002bnr.3_Silent_p.L463L	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	463			L -> F.		base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			AGATCCATCAACGACTTCTTC	0.607								DNA_polymerases_(catalytic_subunits)					G	89870444	A	G	89870444	2	3	19	1	0	0	0	0	0	0	0	1	12200	40	2	3		3	POLG	15	89870444	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	42025	89870444	12660948	2438	16737											
C15orf42	90381	broad.mit.edu	37	chr15	90169244	90169244	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctctgacccagtctccgCtgctgttccaggggaaaaca	11	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:90169244C>T	uc002boe.2	+	21	5554	c.5554C>T	c.(5554-5556)CTG>TTG	p.L1852L	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1852					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCAGTCTCCGCTGCTGTTCCA	0.557													T	90169244	C	T	90169244	2	4	19	1	0	0	0	0	0	0	0	1	1796	796	28	2		2	C15orf42	15	90169244	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	298800	90169244	12362148	2439	16738											
KIF7	374654	broad.mit.edu	37	chr15	90190147	90190148	+	Frame_Shift_Ins	INS	-	-	G													tgggcgtgggcaccccccagINSgggggctgtatgaggtcgag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:90190146_90190147A>AG	uc002bof.2	-	6	1779_1780	c.1702_1703T>CT	c.(1702-1704)ctgfs	p.L568fs	KIF7_uc010upw.1_Frame_Shift_Ins_p.L55fs	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	568					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GGCACCCCCCAGGGGGGCTGTA	0.688											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	90190148	-	G	90190147	7	5	19	1	0	1	1	0	0	0	0	0	8309	991	35	0	2381	0	KIF7	15	90190147	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	20903	90190147	12341245	2440	16739											
FURIN	5045	broad.mit.edu	37	chr15	91423207	91423207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatcatcgacatcctcaccGagcccaagtgagggctggac	11	14	2	1	rs138927071		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:91423207G>A	uc002bpu.1	+	12	1585	c.1369G>A	c.(1369-1371)GAG>AAG	p.E457K		NM_002569	NP_002560	P09958	FURIN_HUMAN	furin preproprotein	457					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			central_nervous_system(4)|lung(2)|breast(1)	7	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CATCCTCACCGAGCCCAAGTG	0.662													A	91423207	G	A	91423207	3	1	19	1	0	0	0	0	1	0	0	0	6099	1059	37	1	1411	1	FURIN	15	91423207	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1233060	91423207	11108185	2441	16740											
FURIN	5045	broad.mit.edu	37	chr15	91424194	91424194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccctcgtactctatggCaccgcccctgaggggctgcc	10	17	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:91424194C>T	uc002bpu.1	+	15	1932	c.1716C>T	c.(1714-1716)GGC>GGT	p.G572G		NM_002569	NP_002560	P09958	FURIN_HUMAN	furin preproprotein	572	Cys-rich.				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			central_nervous_system(4)|lung(2)|breast(1)	7	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TACTCTATGGCACCGCCCCTG	0.612													T	91424194	C	T	91424194	2	4	19	1	0	0	0	0	0	0	0	1	6099	697	25	2		2	FURIN	15	91424194	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	987	91424194	11107198	2442	16741											
UNC45A	55898	broad.mit.edu	37	chr15	91496765	91496765	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaccggggtgctgtggTggtgctgaacatggtggagg	20	7	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:91496765T>C	uc002bqg.2	+	20	2994	c.2654T>C	c.(2653-2655)GTG>GCG	p.V885A	UNC45A_uc002bqd.2_Missense_Mutation_p.V870A|UNC45A_uc010uqr.1_Missense_Mutation_p.V277A|UNC45A_uc002bqi.2_Missense_Mutation_p.V163A|RCCD1_uc002bqj.2_5'Flank|RCCD1_uc002bqk.2_5'Flank|RCCD1_uc002bql.2_5'Flank	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform	885					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGTGCTGTGGTGGTGCTGAAC	0.567													C	91496765	T	C	91496765	3	2	19	1	0	0	0	0	1	0	0	0	16985	1696	59	3	2732	3	UNC45A	15	91496765	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	72571	91496765	11034627	2443	16742											
ST8SIA2	8128	broad.mit.edu	37	chr15	92973323	92973323	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagatcagctgtgaacagctTacatagcaaatctaataggt	8	8	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:92973323T>A	uc002bra.2	+	2	298	c.143T>A	c.(142-144)TTA>TAA	p.L48*	ST8SIA2_uc002brb.2_Intron	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide	48	Lumenal (Potential).				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity				0	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GTGAACAGCTTACATAGCAAA	0.393													A	92973323	T	A	92973323	4	1	19	1	0	0	0	0	0	1	0	0	15231	1764	61	5	149	5	ST8SIA2	15	92973323	Nonsense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1476558	92973323	9558069	2444	16743											
ST8SIA2	8128	broad.mit.edu	37	chr15	92987897	92987897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagtacaggagtatgccCgggatgtggggctcaagaca	14	11	1	1	rs146396658		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:92987897C>T	uc002bra.2	+	5	735	c.580C>T	c.(580-582)CGG>TGG	p.R194W	ST8SIA2_uc002brb.2_Missense_Mutation_p.R173W	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide	194	Lumenal (Potential).				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity				0	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GGAGTATGCCCGGGATGTGGG	0.567													T	92987897	C	T	92987897	3	4	19	1	0	0	0	0	1	0	0	0	15231	643	23	1	598	1	ST8SIA2	15	92987897	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	14574	92987897	9543495	2445	16744											
IGF1R	3480	broad.mit.edu	37	chr15	99467785	99467785	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtgtccagacaggaatAcaggaagtatggaggggcca	15	6	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:99467785A>G	uc002bul.2	+	13	2704	c.2654A>G	c.(2653-2655)TAC>TGC	p.Y885C	IGF1R_uc010bon.2_Missense_Mutation_p.Y885C|IGF1R_uc010boo.1_RNA	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	885	Extracellular (Potential).|Fibronectin type-III 3.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	AGACAGGAATACAGGAAGTAT	0.507													G	99467785	A	G	99467785	3	3	19	1	0	0	0	0	1	0	0	0	7571	391	14	3	2704	3	IGF1R	15	99467785	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	6479888	99467785	3063607	2446	16745											
IGF1R	3480	broad.mit.edu	37	chr15	99467821	99467821	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccaagctaaaccggctaaAcccggggaactacacagccc	10	15	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:99467821A>G	uc002bul.2	+	13	2740	c.2690A>G	c.(2689-2691)AAC>AGC	p.N897S	IGF1R_uc010bon.2_Missense_Mutation_p.N897S|IGF1R_uc010boo.1_RNA	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	897	Extracellular (Potential).|Fibronectin type-III 3.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	AACCGGCTAAACCCGGGGAAC	0.502													G	99467821	A	G	99467821	3	3	19	1	0	0	0	0	1	0	0	0	7571	43	2	3	2740	3	IGF1R	15	99467821	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	36	99467821	3063571	2447	16746											
LRRK1	79705	broad.mit.edu	37	chr15	101528908	101528908	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgagggcacctgggggTtgtgaagctcctggtcctga	16	11	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:101528908T>C	uc002bwr.2	+	5	822	c.503T>C	c.(502-504)GTT>GCT	p.V168A	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bwq.1_Missense_Mutation_p.V168A	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	168	ANK 3.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CACCTGGGGGTTGTGAAGCTC	0.627													C	101528908	T	C	101528908	3	2	19	1	0	0	0	0	1	0	0	0	9032	1725	60	3	517	3	LRRK1	15	101528908	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2061087	101528908	1002484	2448	16747											
CHSY1	22856	broad.mit.edu	37	chr15	101718849	101718849	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggccgtcaactgccgaatAcaagtattttccagtcagaa	8	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:101718849A>G	uc002bwt.1	-	4	1636	c.1153T>C	c.(1153-1155)TAT>CAT	p.Y385H	CHSY1_uc010usd.1_Missense_Mutation_p.Y113H	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	385	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity				0	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACTGCCGAATACAAGTATTTT	0.552													G	101718849	A	G	101718849	3	3	19	1	0	0	0	0	1	0	0	0	3412	391	14	3	1259	3	CHSY1	15	101718849	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	189941	101718849	812543	2449	16748											
SELS	55829	broad.mit.edu	37	chr15	101816826	101816828	+	In_Frame_Del	DEL	AGA	AGA	-													gcttctgaaagaccacgtagAgaaggatgcagctgaagacg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:101816825_101816827GAGA>G	uc021sxu.1	-	1	208_210	c.130_132TCTC>C	c.(130-132)ctc>C	p.L44del	SELS_uc021sxv.1_In_Frame_Del_p.L44del	NM_203472		Q9BQE4	SELS_HUMAN	Homo sapiens selenoprotein S (SELS), transcript variant 1, mRNA.	44					ER overload response|ER-associated protein catabolic process|anti-apoptosis|cell redox homeostasis|cellular response to insulin stimulus|cellular response to lipopolysaccharide|cellular response to oxidative stress|endoplasmic reticulum unfolded protein response|negative regulation of acute inflammatory response to antigenic stimulus|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of interleukin-6 production|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of tumor necrosis factor production|regulation of gluconeogenesis|regulation of nitric oxide metabolic process|response to glucose stimulus|response to redox state|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane|low-density lipoprotein particle|microsome|plasma membrane|very-low-density lipoprotein particle	antioxidant activity|enzyme binding|receptor activity|selenium binding					Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGACCACGTAGAGAAGGATGCAG	0.507													-	101816828	AGA	-	101816826	7	5	19	1	0	1	0	1	0	0	0	0	14021	304	11	0	458	0	SELS	15	101816826	In_Frame_Del	DEL	AGA	TCGA-BR-4361-01A-01D-1158-08	97977	101816826	714566	2450	16749											
NPRL3	8131	broad.mit.edu	37	chr16	167321	167321	+	Frame_Shift_Del	DEL	A	A	-													ctcagtgcaaacaccacattAaaaagaatcatagtaggtgc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:167320_167320TA>T	uc002cfr.3	-	4	497	c.373_373TA>A	c.(373-375)aatfs	p.N125fs	NPRL3_uc010uua.1_Intron|NPRL3_uc002cfp.2_Non-coding_Transcript|NPRL3_uc021szl.1_Frame_Shift_Del_p.N47fs|NPRL3_uc021szm.1_Intron|NPRL3_uc021szn.1_Intron|NPRL3_uc002cfq.3_Intron	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	Homo sapiens nitrogen permease regulator-like 3 (S. cerevisiae) (NPRL3), transcript variant 1, mRNA.	125							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						AACACCACATTAAAAAGAATC	0.413													-	167321	A	-	167321	7	5	19	1	0	1	0	1	0	0	0	0	10598	359	13	0	1376	0	NPRL3	16	167321	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08		167321	90187432	2451	16750											
HBM	3042	broad.mit.edu	37	chr16	216278	216278	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgcaggctcttcacggTgtaccccagcaccaaggtct	10	15	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:216278T>C	uc002cfu.1	+	2	128	c.104T>C	c.(103-105)GTG>GCG	p.V35A		NM_001003938	NP_001003938	Q6B0K9	HBM_HUMAN	hemoglobin mu chain	35						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0		all_cancers(16;1.62e-06)|all_epithelial(16;4.01e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CTCTTCACGGTGTACCCCAGC	0.711													C	216278	T	C	216278	3	2	19	1	0	0	0	0	1	0	0	0	6984	1696	59	3	110	3	HBM	16	216278	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	48957	216278	90138475	2452	16751											
MRPL28	10573	broad.mit.edu	37	chr16	418359	418359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtctctgcttctcaatgGcctcctccagcgtgaggccc	9	15	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:418359G>A	uc002cgr.1	-	4	648	c.632C>T	c.(631-633)GCC>GTC	p.A211V	MRPL28_uc010bqu.1_Intron|MRPL28_uc002cgs.1_Missense_Mutation_p.A211V|MRPL28_uc002cgt.1_Missense_Mutation_p.A211V	NM_006428	NP_006419	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28 precursor	211					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				CTTCTCAATGGCCTCCTCCAG	0.622													A	418359	G	A	418359	3	1	19	1	0	0	0	0	1	0	0	0	9792	1203	42	2	146	2	MRPL28	16	418359	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	202081	418359	89936394	2453	16752											
SOLH	6650	broad.mit.edu	37	chr16	601649	601649	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtcttctggatggagtAcggcgactttgtcaggtatc	15	7	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:601649A>G	uc002chi.2	+	9	2693	c.2330A>G	c.(2329-2331)TAC>TGC	p.Y777C	SOLH_uc002chj.2_5'Flank	NM_005632	NP_005623	O75808	CAN15_HUMAN	small optic lobes	777	Calpain catalytic.				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(780;0.00335)				TGGATGGAGTACGGCGACTTT	0.672													G	601649	A	G	601649	3	3	19	1	0	0	0	0	1	0	0	0	14925	391	14	3	2352	3	SOLH	16	601649	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	183290	601649	89753104	2454	16753											
WDR90	197335	broad.mit.edu	37	chr16	703790	703790	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggggttggcaaggaccAccacgggaggacggtaacag	17	10	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:703790A>G	uc002cii.1	+	13	1478	c.1424A>G	c.(1423-1425)CAC>CGC	p.H475R	WDR90_uc002cig.1_Missense_Mutation_p.H475R|WDR90_uc002cih.1_Missense_Mutation_p.H476R|WDR90_uc002cij.1_RNA|WDR90_uc002cik.1_5'Flank|WDR90_uc002cil.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	475	WD 2.									ovary(1)	1		Hepatocellular(780;0.0218)				GGCAAGGACCACCACGGGAGG	0.637													G	703790	A	G	703790	3	3	19	1	0	0	0	0	1	0	0	0	17334	159	6	3	1474	3	WDR90	16	703790	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	102141	703790	89650963	2455	16754											
WDR24	84219	broad.mit.edu	37	chr16	739346	739346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggttccacgtgaccaCcacgccattggtggctgctg	12	15	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:739346C>T	uc002ciz.1	-	1	1055	c.295G>A	c.(295-297)GTG>ATG	p.V99M		NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	161	WD 1.									ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)				CACGTGACCACCACGCCATTG	0.607													T	739346	C	T	739346	3	4	19	1	0	0	0	0	1	0	0	0	17278	507	18	4	2113	4	WDR24	16	739346	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	35556	739346	89615407	2456	16755											
MSLNL	401827	broad.mit.edu	37	chr16	830428	830428	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcacgtgtaagtgacagtgTgcacgggtaggtgacagtat	15	6	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:830428T>C	uc002cjz.1	-	3	573	c.573A>G	c.(571-573)GCA>GCG	p.A191A		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	Error:Variant_position_missing_in_Q96KJ4_after_alignment					cell adhesion	integral to membrane				breast(3)|ovary(1)	4						AGTGACAGTGTGCACGGGTAG	0.572													C	830428	T	C	830428	2	2	19	1	0	0	0	0	0	0	0	1	9882	1683	59	3		3	MSLNL	16	830428	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	91082	830428	89524325	2457	16756											
CHTF18	63922	broad.mit.edu	37	chr16	843186	843186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagctgagcgtgcgggacGtgcaggccacacgcgtgggc	20	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:843186G>A	uc002cke.3	+	14	1777	c.1714G>A	c.(1714-1716)GTG>ATG	p.V572M	CHTF18_uc010bre.1_RNA|CHTF18_uc002ckf.3_Missense_Mutation_p.V600M|CHTF18_uc010brf.2_Missense_Mutation_p.V154M|CHTF18_uc002ckg.3_Missense_Mutation_p.V90M	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	572					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)				CGTGCGGGACGTGCAGGCCAC	0.687													A	843186	G	A	843186	3	1	19	1	0	0	0	0	1	0	0	0	3414	1145	40	1	1768	1	CHTF18	16	843186	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	12758	843186	89511567	2458	16757											
CHTF18	63922	broad.mit.edu	37	chr16	847005	847005	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagggtctgctggggggcatTggggagaaaggggtgcaccg	22	6	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:847005T>C	uc002cke.3	+	20	2709	c.2646T>C	c.(2644-2646)ATT>ATC	p.I882I	CHTF18_uc002ckf.3_Silent_p.I910I|CHTF18_uc010brf.2_Silent_p.I464I|CHTF18_uc002ckg.3_Silent_p.I400I	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	882					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)				TGGGGGGCATTGGGGAGAAAG	0.652													C	847005	T	C	847005	2	2	19	1	0	0	0	0	0	0	0	1	3414	1800	63	3		3	CHTF18	16	847005	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	3819	847005	89507748	2459	16758											
BAIAP3	8938	broad.mit.edu	37	chr16	1394107	1394107	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgagactacttccctgccAccaacagcaccgctgtccac	6	19	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:1394107A>G	uc002clk.1	+	16	1576	c.1576A>G	c.(1576-1578)ACC>GCC	p.T526A	BAIAP3_uc002clj.2_Missense_Mutation_p.T508A|BAIAP3_uc010uuz.1_Missense_Mutation_p.T491A|BAIAP3_uc010uva.1_Missense_Mutation_p.T463A|BAIAP3_uc010uvc.1_Missense_Mutation_p.T455A	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	526					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				CTTCCCTGCCACCAACAGCAC	0.687													G	1394107	A	G	1394107	3	3	19	1	0	0	0	0	1	0	0	0	1304	159	6	3	1638	3	BAIAP3	16	1394107	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	547102	1394107	88960646	2460	16759											
BAIAP3	8938	broad.mit.edu	37	chr16	1397758	1397758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgttgccattacgaggcGgctgagcagcggctggccgt	16	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:1397758G>A	uc002clk.1	+	31	3066	c.3066G>A	c.(3064-3066)GCG>GCA	p.A1022A	BAIAP3_uc002clj.2_Silent_p.A1004A|BAIAP3_uc010uuz.1_Silent_p.A987A|BAIAP3_uc010uva.1_Silent_p.A959A|BAIAP3_uc010uvc.1_Silent_p.A951A	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1022	C2 2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				ATTACGAGGCGGCTGAGCAGC	0.706													A	1397758	G	A	1397758	2	1	19	1	0	0	0	0	0	0	0	1	1304	1103	39	1		1	BAIAP3	16	1397758	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3651	1397758	88956995	2461	16760											
CLCN7	1186	broad.mit.edu	37	chr16	1510448	1510448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacaatcacagagcccaCgagcacgaaggcggcgttca	11	14	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:1510448C>T	uc002clv.2	-	6	675	c.565G>A	c.(565-567)GTG>ATG	p.V189M	CLCN7_uc002clw.2_Missense_Mutation_p.V165M	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	189	Helical; (By similarity).					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)				ACAGAGCCCACGAGCACGAAG	0.597													T	1510448	C	T	1510448	3	4	19	1	0	0	0	0	1	0	0	0	3468	536	19	1	1932	1	CLCN7	16	1510448	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	112690	1510448	88844305	2462	16761											
EME2	197342	broad.mit.edu	37	chr16	1825690	1825690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagtatcccctcaagtgcGtgatgccaaggctgaagggg	13	12	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:1825690G>A	uc002cmq.1	+	6	937	c.937G>A	c.(937-939)GTG>ATG	p.V313M	MRPS34_uc002cmn.2_5'Flank|MRPS34_uc002cmo.2_5'Flank|MRPS34_uc002cmp.1_5'Flank|EME2_uc010brw.1_Intron	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	essential meiotic endonuclease 1 homolog 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			lung(1)|central_nervous_system(1)|pancreas(1)	3						CCTCAAGTGCGTGATGCCAAG	0.602								Direct_reversal_of_damage|Homologous_recombination					A	1825690	G	A	1825690	3	1	19	1	0	0	0	0	1	0	0	0	5089	1145	40	1	959	1	EME2	16	1825690	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	315242	1825690	88529063	2463	16762											
SLC9A3R2	9351	broad.mit.edu	37	chr16	2086386	2086386	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgcgaaagggacctcAgggctatgggttcaacctgc	12	13	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:2086386A>G	uc002coi.2	+	3	595	c.476A>G	c.(475-477)CAG>CGG	p.Q159R	SLC9A3R2_uc002coj.2_Missense_Mutation_p.Q159R|SLC9A3R2_uc002cok.2_Missense_Mutation_p.Q48R	NM_001130012	NP_001123484	Q15599	NHRF2_HUMAN	solute carrier family 9 isoform 3 regulator 2	159	PDZ 2.				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)	1						AAGGGACCTCAGGGCTATGGG	0.677													G	2086386	A	G	2086386	3	3	19	1	0	0	0	0	1	0	0	0	14715	188	7	3	486	3	SLC9A3R2	16	2086386	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	260696	2086386	88268367	2464	16763											
PKD1	5310	broad.mit.edu	37	chr16	2150541	2150541	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctgtccaccccatacaGcatgatgcccacgtgggccg	11	17	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:2150541G>A	uc002cos.1	-	27	9633	c.9424C>T	c.(9424-9426)CTG>TTG	p.L3142L	PKD1_uc002cot.1_Silent_p.L3142L|PKD1_uc010bse.1_RNA	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	3142	PLAT.|Cytoplasmic (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						ACCCCATACAGCATGATGCCC	0.667													A	2150541	G	A	2150541	2	1	19	1	0	0	0	0	0	0	0	1	11963	962	34	2		2	PKD1	16	2150541	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	64155	2150541	88204212	2465	16764											
PKD1	5310	broad.mit.edu	37	chr16	2161268	2161268	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggggatgcaggcggcgggTtcaacgcgcagcacctccag	17	12	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:2161268T>C	uc002cos.1	-	15	4109	c.3900A>G	c.(3898-3900)GAA>GAG	p.E1300E	PKD1_uc002cot.1_Silent_p.E1300E	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1300	PKD 8.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						AGGCGGCGGGTTCAACGCGCA	0.701													C	2161268	T	C	2161268	2	2	19	1	0	0	0	0	0	0	0	1	11963	1722	60	3		3	PKD1	16	2161268	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	10727	2161268	88193485	2466	16765											
TRAF7	84231	broad.mit.edu	37	chr16	2222242	2222242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggtggtgaacaacatcGcggtggccgagcagatcggg	17	10	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:2222242G>A	uc002cow.2	+	8	625	c.526G>A	c.(526-528)GCG>ACG	p.A176T		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	176					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						GAACAACATCGCGGTGGCCGA	0.667													A	2222242	G	A	2222242	3	1	19	1	0	0	0	0	1	0	0	0	16443	1087	38	1	552	1	TRAF7	16	2222242	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	60974	2222242	88132511	2467	16766											
C16orf79	283870	broad.mit.edu	37	chr16	2259579	2259579	+	Frame_Shift_Del	DEL	G	G	-													gctcgccgggcccagtagatGggggtcctcatgcacaggcg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:2259578_2259578TG>T	uc010bsh.3	-	4	803	c.568_568CA>A	c.(568-570)atcfs	p.I190fs	C16orf79_uc002cpi.2_Frame_Shift_Del_p.I190fs	NM_182563	NP_872369	Q6PL45	CP079_HUMAN	Homo sapiens chromosome 16 open reading frame 79 (C16orf79), mRNA.	190	BRICHOS.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						GCCCAGTAGATGGGGGTCCTC	0.692													-	2259579	G	-	2259579	7	5	19	1	0	1	0	1	0	0	0	0	1836	1335	47	0	127	0	C16orf79	16	2259579	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	37337	2259579	88095174	2468	16767											
DNASE1L2	1775	broad.mit.edu	37	chr16	2287970	2287970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccggagcctgaagccccagtCggccaccgtgcacgacttcc	11	18	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:2287970C>T	uc002cpo.2	+	5	1188	c.794C>T	c.(793-795)TCG>TTG	p.S265L	DNASE1L2_uc002cpn.2_Missense_Mutation_p.S244L|DNASE1L2_uc002cpp.2_Missense_Mutation_p.S265L|DNASE1L2_uc002cpq.2_Missense_Mutation_p.S265L	NM_001374	NP_001365	Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2 precursor	265					DNA catabolic process	extracellular region	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding				0						AAGCCCCAGTCGGCCACCGTG	0.706													T	2287970	C	T	2287970	3	4	19	1	0	0	0	0	1	0	0	0	4662	893	31	1	812	1	DNASE1L2	16	2287970	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	28391	2287970	88066783	2469	16768											
CLDN6	9074	broad.mit.edu	37	chr16	3065456	3065457	+	Frame_Shift_Ins	INS	-	-	C													aatggctggggccctgggacINSccccccgaggggcaagtgca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:3065455_3065456A>AC	uc021tbb.1	-	0	567_568	c.567_568T>GT	c.(565-570)gggtccfs	p.G189fs	CLDN6_uc002csu.4_Frame_Shift_Ins_p.G189fs	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	189					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.G189R(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGGCCCTGGGACCCCCCCGAGG	0.644													C	3065457	-	C	3065456	7	5	19	1	0	1	1	0	0	0	0	0	3489	494	18	0	99	0	CLDN6	16	3065456	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	777486	3065456	87289297	2470	16769											
ZNF434	54925	broad.mit.edu	37	chr16	3433031	3433032	+	Frame_Shift_Del	DEL	CA	CA	-													gctattgttgaagattttccCacacactgcacacttgtatg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:3433030_3433031CCA>C	uc002cux.4	-	6	2171_2172	c.1912_1913TGG>G	c.(1912-1914)gggfs	p.G638fs	ZNF434_uc010uwx.2_Frame_Shift_Del_p.G350fs|ZNF434_uc002cuy.4_Frame_Shift_Del_p.G350fs|ZNF434_uc002cuz.3_Frame_Shift_Del_p.G427fs	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN	Homo sapiens zinc finger protein 434 (ZNF434), mRNA.	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAAGATTTTCCCACACACTGCA	0.505													-	3433032	CA	-	3433031	7	5	19	1	0	1	0	1	0	0	0	0	17905	594	21	0	182	0	ZNF434	16	3433031	Frame_Shift_Del	DEL	CA	TCGA-BR-4361-01A-01D-1158-08	367575	3433031	86921722	2471	16770											
DNASE1	1773	broad.mit.edu	37	chr16	3707217	3707217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgggcgacttcaatgcGggctgcagctatgtgagacc	14	9	1	2	rs34984360		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:3707217G>A	uc002cvr.2	+	7	2686	c.579G>A	c.(577-579)GCG>GCA	p.A193A		NM_005223	NP_005214	P24855	DNAS1_HUMAN	deoxyribonuclease I precursor	193					apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity				0		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)	ACTTCAATGCGGGCTGCAGCT	0.642								Direct_reversal_of_damage					A	3707217	G	A	3707217	2	1	19	1	0	0	0	0	0	0	0	1	4660	1103	39	1		1	DNASE1	16	3707217	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	274186	3707217	86647536	2472	16771											
CREBBP	1387	broad.mit.edu	37	chr16	3817721	3817722	+	Splice_Site	INS	-	-	T													taatgaataaatggcctactINSttttttgcgcggctgcgaag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:3817720_3817721C>CT	uc002cvv.3	-	16	3454	c.3250_splice	c.e16+1	p.I1084_splice	CREBBP_uc002cvw.3_Splice_Site_p.I1046_splice	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1084					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAATGGCCTACTTTTTTTGCGC	0.401			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						T	3817722	-	T	3817721	8	5	19	1	0	1	1	0	0	0	1	0	3861	1623	56	0	4142	0	CREBBP	16	3817721	Splice_Site	INS	-	TCGA-BR-4361-01A-01D-1158-08	110504	3817721	86537032	2473	16772											
CREBBP	1387	broad.mit.edu	37	chr16	3820608	3820608	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcgtgcacaggcgtcggcTgttgctgcgatgactgaggg	19	9	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:3820608T>C	uc002cvv.2	-	14	3047	c.2843A>G	c.(2842-2844)CAG>CGG	p.Q948R	CREBBP_uc002cvw.2_Missense_Mutation_p.Q910R	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	948					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGCGTCGGCTGTTGCTGCGA	0.592			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				C	3820608	T	C	3820608	3	2	19	1	0	0	0	0	1	0	0	0	3861	1580	55	3	4557	3	CREBBP	16	3820608	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2887	3820608	86534145	2474	16773											
TFAP4	7023	broad.mit.edu	37	chr16	4312644	4312644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgctgttggcgatctcccGccgaatccgccgctcctggt	12	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:4312644G>A	uc010uxg.1	-	2	402	c.148C>T	c.(148-150)CGG>TGG	p.R50W		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	50	Basic motif.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						GCGATCTCCCGCCGAATCCGC	0.632													A	4312644	G	A	4312644	3	1	19	1	0	0	0	0	1	0	0	0	15789	1086	38	1	892	1	TFAP4	16	4312644	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	492036	4312644	86042109	2475	16774											
CORO7	79585	broad.mit.edu	37	chr16	4411442	4411442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagcgtgggcagtgccGtgtcgggcaggcggccaggc	19	12	1	0	rs145925246		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:4411442G>A	uc002cwh.3	-	17	1727	c.1607C>T	c.(1606-1608)ACG>ATG	p.T536M	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.T536M|CORO7_uc002cwg.3_Missense_Mutation_p.T316M|CORO7_uc010uxh.1_Missense_Mutation_p.T518M|CORO7_uc010uxi.1_Missense_Mutation_p.T451M|CORO7_uc002cwi.1_Missense_Mutation_p.T316M|CORO7_uc010uxj.1_RNA	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	536						cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						GGGCAGTGCCGTGTCGGGCAG	0.682													A	4411442	G	A	4411442	3	1	19	1	0	0	0	0	1	0	0	0	3759	1145	40	1	1218	1	CORO7	16	4411442	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	98798	4411442	85943311	2476	16775											
SEPT12	124404	broad.mit.edu	37	chr16	4827851	4827851	+	Frame_Shift_Del	DEL	G	G	-													cctgcagaccttgaaggtccGgggggtggtcagctgtcctg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:4827851delG	uc002cxq.2	-	10	1165	c.1024delC	c.(1024-1026)CGGfs	p.R342fs	SEPT12_uc002cxr.2_Frame_Shift_Del_p.R296fs|SEPT12_uc010bty.2_RNA	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	septin 12 isoform 2	342					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			skin(1)	1						TTGAAGGTCCGGGGGGTGGTC	0.672													-	4827851	G	-	4827851	7	5	19	1	0	1	0	1	0	0	0	0	14062	1115	39	0	56	0	SEPT12	16	4827851	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	416409	4827851	85526902	2477	16776											
GLYR1	84656	broad.mit.edu	37	chr16	4882163	4882163	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcacctgagtttggcctActtctctcctcactggaatt	6	13	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:4882163A>G	uc002cxx.3	-	5	391	c.354T>C	c.(352-354)AGT>AGC	p.S118S	GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Silent_p.S49S|GLYR1_uc002cya.2_Silent_p.S118S|GLYR1_uc010uxv.1_Intron	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	118					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0						AGTTTGGCCTACTTCTCTCCT	0.433													G	4882163	A	G	4882163	2	3	19	1	0	0	0	0	0	0	0	1	6483	388	14	3		3	GLYR1	16	4882163	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	54312	4882163	85472590	2478	16777											
GLYR1	84656	broad.mit.edu	37	chr16	4895126	4895126	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcatttctttccgcgaggtTtcttcaagtcctttggtgga	10	9	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:4895126T>C	uc002cxx.3	-	3	141	c.104A>G	c.(103-105)AAA>AGA	p.K35R	GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_5'UTR|GLYR1_uc002cya.2_Missense_Mutation_p.K35R|GLYR1_uc010uxv.1_Missense_Mutation_p.K35R|UBN1_uc010uxw.1_5'Flank|UBN1_uc002cyb.2_5'Flank	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	35	PWWP.				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0						TCCGCGAGGTTTCTTCAAGTC	0.453													C	4895126	T	C	4895126	3	2	19	1	0	0	0	0	1	0	0	0	6483	1841	64	3	1613	3	GLYR1	16	4895126	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	12963	4895126	85459627	2479	16778											
PPL	5493	broad.mit.edu	37	chr16	4933690	4933690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggatgactacgatggagcGccgcaggtggttctcccgct	15	11	1	1	rs140094738	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:4933690G>A	uc002cyd.1	-	22	5056	c.4966C>T	c.(4966-4968)CGC>TGC	p.R1656C		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1656	Plectin 1.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						ACGATGGAGCGCCGCAGGTGG	0.632													A	4933690	G	A	4933690	3	1	19	1	0	0	0	0	1	0	0	0	12334	1087	38	1	308	1	PPL	16	4933690	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	38564	4933690	85421063	2480	16779											
PPL	5493	broad.mit.edu	37	chr16	4940785	4940785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcccagcttgtgcacctcGgcctcctggcgctccaggtc	12	17	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:4940785G>A	uc002cyd.1	-	17	2196	c.2106C>T	c.(2104-2106)GCC>GCT	p.A702A		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	702	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						TGTGCACCTCGGCCTCCTGGC	0.587													A	4940785	G	A	4940785	2	1	19	1	0	0	0	0	0	0	0	1	12334	1103	39	1		1	PPL	16	4940785	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	7095	4940785	85413968	2481	16780											
PPL	5493	broad.mit.edu	37	chr16	4944500	4944501	+	Frame_Shift_Ins	INS	-	-	G													ccagggcctcagggtctgtgINSggggggatcacaaaacacac					rs147027769		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:4944499_4944500T>TG	uc002cyd.1	-	11	1452_1453	c.1362_1363A>CA	c.(1360-1365)cccacafs	p.P454fs		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	454					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.T455fs*4(2)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCAGGGTCTGTGGGGGGGATCA	0.609													G	4944501	-	G	4944500	7	5	19	1	0	1	1	0	0	0	0	0	12334	1335	47	0	3952	0	PPL	16	4944500	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	3715	4944500	85410253	2482	16781											
CIITA	4261	broad.mit.edu	37	chr16	10989150	10989150	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctcccaggcagctcacagTgtgccaccatggagttgggg	13	14	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:10989150T>C	uc002dai.3	+	2	197	c.64T>C	c.(64-66)TGT>CGT	p.C22R	CIITA_uc002daj.3_Missense_Mutation_p.C22R|CIITA_uc002dak.3_Missense_Mutation_p.C22R|CIITA_uc002dag.2_Missense_Mutation_p.C22R|CIITA_uc002dah.2_Missense_Mutation_p.C22R|CIITA_uc010bup.1_Missense_Mutation_p.C22R	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	22					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						CAGCTCACAGTGTGCCACCAT	0.552			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								C	10989150	T	C	10989150	3	2	19	1	0	0	0	0	1	0	0	0	3428	1696	59	3	70	3	CIITA	16	10989150	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	6044650	10989150	79365603	2483	16782											
CLEC16A	23274	broad.mit.edu	37	chr16	11214490	11214490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agataacagcgacttgattgCatgtacagtgatcaccaagg	10	8	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:11214490C>T	uc002dao.2	+	20	2365	c.2135C>T	c.(2134-2136)GCA>GTA	p.A712V	CLEC16A_uc002dan.3_Missense_Mutation_p.A694V	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	712										ovary(1)|central_nervous_system(1)	2						GACTTGATTGCATGTACAGTG	0.527													T	11214490	C	T	11214490	3	4	19	1	0	0	0	0	1	0	0	0	3500	710	25	2	2209	2	CLEC16A	16	11214490	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	225340	11214490	79140263	2484	16783											
ERCC4	2072	broad.mit.edu	37	chr16	14026125	14026125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatatctgaaaaaatggAaattaaagaaggggaaggta	10	1	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:14026125A>G	uc002dce.2	+	6	1094	c.1085A>G	c.(1084-1086)GAA>GGA	p.E362G	ERCC4_uc010bva.2_Missense_Mutation_p.E362G|ERCC4_uc010uyz.1_5'UTR	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	362					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			lung(4)|ovary(3)|skin(2)|pancreas(1)	10						GAAAAAATGGAAATTAAAGAA	0.328			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				G	14026125	A	G	14026125	3	3	19	1	0	0	0	0	1	0	0	0	5215	246	9	3	1107	3	ERCC4	16	14026125	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2811635	14026125	76328628	2485	16784											
NDE1	54820	broad.mit.edu	37	chr16	15785075	15785075	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcccagctcagtggaagctGagaggacagacacagctgtg	14	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:15785075G>A	uc002ddt.1	+	5	641	c.598G>A	c.(598-600)GAG>AAG	p.E200K	NDE1_uc010uzy.1_Missense_Mutation_p.E200K|NDE1_uc002dds.2_Missense_Mutation_p.E200K|NDE1_uc002ddu.1_Missense_Mutation_p.E137K	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	nuclear distribution gene E homolog 1	200	Interaction with CENPF (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			ovary(1)	1						AGTGGAAGCTGAGAGGACAGA	0.587													A	15785075	G	A	15785075	3	1	19	1	0	0	0	0	1	0	0	0	10243	1291	45	4	616	4	NDE1	16	15785075	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1758950	15785075	74569678	2486	16785											
SMG1	23049	broad.mit.edu	37	chr16	18856807	18856807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggttcaatggagtcttcaGtttttctagggcattttcaa	10	6	5	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:18856807G>A	uc002dfm.2	-	39	6526	c.6163C>T	c.(6163-6165)CTG>TTG	p.L2055L	SMG1_uc010bwb.2_Silent_p.L1915L|SMG1_uc010bwa.2_Silent_p.L786L|SMG1_uc002dfo.3_Silent_p.L353L	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2055					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						GGAGTCTTCAGTTTTTCTAGG	0.453													A	18856807	G	A	18856807	2	1	19	1	0	0	0	0	0	0	0	1	14795	1020	36	4		4	SMG1	16	18856807	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3071732	18856807	71497946	2487	16786											
ACSM2A	123876	broad.mit.edu	37	chr16	20491953	20491953	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttttggctccttggagaccGgggaatcaaagatgaagatg	13	7	1	4	rs145697504		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:20491953G>C	uc010bwe.2	+	12	1579	c.1340G>C	c.(1339-1341)CGG>CCG	p.R447P	ACSM2A_uc010vax.1_Missense_Mutation_p.R368P|ACSM2A_uc002dhf.3_Missense_Mutation_p.R447P|ACSM2A_uc002dhg.3_Missense_Mutation_p.R447P|ACSM2A_uc010vay.1_Missense_Mutation_p.R368P|ACSM2A_uc002dhh.3_Missense_Mutation_p.R77P	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	447					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						CTTGGAGACCGGGGAATCAAA	0.498													C	20491953	G	C	20491953	3	2	19	1	0	0	0	0	1	0	0	0	183	1116	39	5	1378	5	ACSM2A	16	20491953	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1635146	20491953	69862800	2488	16787											
ACSM2B	348158	broad.mit.edu	37	chr16	20554526	20554526	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catcttcatctttgattcccCggtctccaaggagccaaaag	7	13	4	1	rs146841908	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:20554526C>G	uc002dhj.3	-	12	1550	c.1340G>C	c.(1339-1341)CGG>CCG	p.R447P	ACSM2B_uc002dhk.3_Missense_Mutation_p.R447P|ACSM2B_uc010bwf.1_Missense_Mutation_p.R447P	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	447					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5						TTTGATTCCCCGGTCTCCAAG	0.498													G	20554526	C	G	20554526	3	3	19	1	0	0	0	0	1	0	0	0	184	652	23	5	409	5	ACSM2B	16	20554526	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	62573	20554526	69800227	2489	16788											
ACSM3	6296	broad.mit.edu	37	chr16	20807776	20807777	+	Frame_Shift_Ins	INS	-	-	A													ggagattcaggagcatgttaINSaaaaaactacagcaccttac							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:20807775_20807776T>TA	uc010vba.2	+	12	1800_1801	c.1725_1726T>TA	c.(1723-1728)gttaaafs	p.V575fs	ERI2_uc002dht.3_3'UTR|ACSM3_uc002dhr.3_Frame_Shift_Ins_p.V546fs|ERI2_uc002dhs.3_Intron|ERI2_uc010vbb.1_3'UTR|ERI2_uc010bwh.2_3'UTR|ERI2_uc010vbc.1_3'UTR|ERI2_uc002dhu.1_3'UTR	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.	546					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AGGAGCATGTTAAAAAAACTAC	0.317													A	20807777	-	A	20807776	7	5	19	1	0	1	1	0	0	0	0	0	185	363	13	0	1778	0	ACSM3	16	20807776	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	253250	20807776	69546977	2490	16789											
DNAH3	55567	broad.mit.edu	37	chr16	21123335	21123335	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcacaaaatcatcaatgtcAtgattttctttcaggaacgc	6	9	6	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:21123335A>G	uc010vbe.1	-	13	1899	c.1899T>C	c.(1897-1899)CAT>CAC	p.H633H	DNAH3_uc002die.2_Silent_p.H573H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	633	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CATCAATGTCATGATTTTCTT	0.388													G	21123335	A	G	21123335	2	3	19	1	0	0	0	0	0	0	0	1	4603	214	8	3		3	DNAH3	16	21123335	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	315559	21123335	69231418	2491	16790											
TMEM159	57146	broad.mit.edu	37	chr16	21181777	21181777	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtggtggcctttatgaagtCtccagtgggtcagtacttgg	15	7	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:21181777C>T	uc002dif.3	+	3	477	c.116C>T	c.(115-117)TCT>TTT	p.S39F	TMEM159_uc002dig.3_RNA|TMEM159_uc010vbf.1_Missense_Mutation_p.S63F|TMEM159_uc002dih.3_Missense_Mutation_p.S39F	NM_020422	NP_065155	Q96B96	TM159_HUMAN	transmembrane protein 159	39						integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(48;0.0972)		TTTATGAAGTCTCCAGTGGGT	0.512													T	21181777	C	T	21181777	3	4	19	1	0	0	0	0	1	0	0	0	16071	913	32	4	122	4	TMEM159	16	21181777	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	58442	21181777	69172976	2492	16791											
ZP2	7783	broad.mit.edu	37	chr16	21213112	21213112	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaacgttgatgtttagTagcatgtcattcctgctata	7	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:21213112T>C	uc002dii.2	-	13	1419	c.1419A>G	c.(1417-1419)CTA>CTG	p.L473L	ZP2_uc010bwn.1_Silent_p.L503L	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	473	Extracellular (Potential).|ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(48;0.0573)		TGATGTTTAGTAGCATGTCAT	0.418													C	21213112	T	C	21213112	2	2	19	1	0	0	0	0	0	0	0	1	18213	1625	57	3		3	ZP2	16	21213112	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	31335	21213112	69141641	2493	16792											
EEF2K	29904	broad.mit.edu	37	chr16	22271788	22271788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctccctgcccagattggCcagtgttcagtgacctcgat	9	13	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:22271788C>T	uc002dki.2	+	11	1722	c.1237C>T	c.(1237-1239)CCA>TCA	p.P413S	EEF2K_uc002dkh.2_RNA	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	413					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(48;0.0223)		CCCAGATTGGCCAGTGTTCAG	0.552													T	22271788	C	T	22271788	3	4	19	1	0	0	0	0	1	0	0	0	4930	739	26	2	1275	2	EEF2K	16	22271788	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1058676	22271788	68082965	2494	16793											
RBBP6	5930	broad.mit.edu	37	chr16	24580095	24580095	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccctatagtggttcttcgtAttcaagaagttcatatactt	6	8	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:24580095A>G	uc002dmh.2	+	17	3124	c.2084A>G	c.(2083-2085)TAT>TGT	p.Y695C	RBBP6_uc010vcb.1_Missense_Mutation_p.Y562C|RBBP6_uc002dmi.2_Missense_Mutation_p.Y661C|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.Y528C	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	695					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		GGTTCTTCGTATTCAAGAAGT	0.343													G	24580095	A	G	24580095	3	3	19	1	0	0	0	0	1	0	0	0	13103	449	16	3	2204	3	RBBP6	16	24580095	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2308307	24580095	65774658	2495	16794											
AQP8	343	broad.mit.edu	37	chr16	25232875	25232875	+	Frame_Shift_Del	DEL	G	G	-													actgggtctcacagctgctcGgggggatgctcggggctgcc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:25232874_25232874CG>C	uc002doc.3	+	2	439	c.357_357CG>C	c.(355-357)ctcfs	p.L119fs		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	119					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CACAGCTGCTCGGGGGGATGC	0.627													-	25232875	G	-	25232875	7	5	19	1	0	1	0	1	0	0	0	0	832	1116	39	0	368	0	AQP8	16	25232875	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	652780	25232875	65121878	2496	16795											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25264314	25264314	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacttcctgatctagggTattccattcatcagcaaggg	9	10	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:25264314T>C	uc002dod.3	-	3	1038	c.631A>G	c.(631-633)ACC>GCC	p.T211A	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.Y3C|ZKSCAN2_uc002doe.2_Missense_Mutation_p.T211A	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	211					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		TGATCTAGGGTATTCCATTCA	0.388													C	25264314	T	C	25264314	3	2	19	1	0	0	0	0	1	0	0	0	17684	1638	57	3	2292	3	ZKSCAN2	16	25264314	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	31439	25264314	65090439	2497	16796											
JMJD5	79831	broad.mit.edu	37	chr16	27226316	27226316	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacgagttcatcagcaaatAcatcgtgaatgaggtacatc	8	9	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:27226316A>G	uc002doh.2	+	4	967	c.785A>G	c.(784-786)TAC>TGC	p.Y262C	JMJD5_uc010vcn.1_Missense_Mutation_p.Y300C|JMJD5_uc010bxw.2_Intron|JMJD5_uc010bxx.2_RNA	NM_024773	NP_079049	Q8N371	KDM8_HUMAN	jumonji domain containing 5 isoform 2	262					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(2)|upper_aerodigestive_tract(1)	3						ATCAGCAAATACATCGTGAAT	0.493													G	27226316	A	G	27226316	3	3	19	1	0	0	0	0	1	0	0	0	7952	391	14	3	913	3	JMJD5	16	27226316	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1962002	27226316	63128437	2498	16797											
GTF3C1	2975	broad.mit.edu	37	chr16	27473658	27473658	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggctgcaggaccccctggTagtggcgcagcagggagctc	17	13	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:27473658T>C	uc002dov.1	-	36	6114	c.6074A>G	c.(6073-6075)TAC>TGC	p.Y2025C	GTF3C1_uc002dou.2_Missense_Mutation_p.Y2000C	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	2025						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						GACCCCCTGGTAGTGGCGCAG	0.647													C	27473658	T	C	27473658	3	2	19	1	0	0	0	0	1	0	0	0	6872	1638	57	3	263	3	GTF3C1	16	27473658	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	247342	27473658	62881095	2499	16798											
GTF3C1	2975	broad.mit.edu	37	chr16	27475947	27475947	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcttggtgccccgggggcTgtgagaaggaggtgcctgcc	17	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:27475947T>C	uc002dov.1	-	34	5606	c.5566A>G	c.(5566-5568)AGC>GGC	p.S1856G	GTF3C1_uc002dou.2_Missense_Mutation_p.S1856G	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1856						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CCCCGGGGGCTGTGAGAAGGA	0.687													C	27475947	T	C	27475947	3	2	19	1	0	0	0	0	1	0	0	0	6872	1580	55	3	779	3	GTF3C1	16	27475947	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2289	27475947	62878806	2500	16799											
GTF3C1	2975	broad.mit.edu	37	chr16	27499707	27499707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctcggagcctactcttgCttccccccaaatattcaacc	6	16	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:27499707C>T	uc002dov.1	-	23	3581	c.3541G>A	c.(3541-3543)GCA>ACA	p.A1181T	GTF3C1_uc002dou.2_Missense_Mutation_p.A1181T	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1181						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CCTACTCTTGCTTCCCCCCAA	0.547													T	27499707	C	T	27499707	3	4	19	1	0	0	0	0	1	0	0	0	6872	797	28	2	2848	2	GTF3C1	16	27499707	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	23760	27499707	62855046	2501	16800											
KIAA0556	23247	broad.mit.edu	37	chr16	27629755	27629755	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcatttcagggttacgctAaggacatggtgacagacttt	10	8	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:27629755A>G	uc002dow.2	+	3	97	c.73A>G	c.(73-75)AAG>GAG	p.K25E		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	25										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						GGGTTACGCTAAGGACATGGT	0.498													G	27629755	A	G	27629755	3	3	19	1	0	0	0	0	1	0	0	0	8183	363	13	3	83	3	KIAA0556	16	27629755	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	130048	27629755	62724998	2502	16801											
SULT1A1	6817	broad.mit.edu	37	chr16	28619888	28619888	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccaggtcaccaccctggTagatcatgtccagaatctgg	9	13	4	2	rs72547526		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:28619888T>C	uc002dqi.2	-	2	658	c.185A>G	c.(184-186)TAC>TGC	p.Y62C	uc010vct.1_Intron|SULT1A1_uc002dqj.2_Missense_Mutation_p.Y62C|SULT1A1_uc002dqk.2_Missense_Mutation_p.Y62C|SULT1A1_uc002dql.2_Missense_Mutation_p.Y62C|SULT1A1_uc002dqm.2_Intron|SULT1A1_uc002dqn.2_Missense_Mutation_p.Y153C|SULT1A1_uc002dqo.2_Missense_Mutation_p.Y62C|SULT1A1_uc002dqp.2_Missense_Mutation_p.Y62C	NM_177534	NP_803878	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A,	62					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						ACCACCCTGGTAGATCATGTC	0.602													C	28619888	T	C	28619888	3	2	19	1	0	0	0	0	1	0	0	0	15371	1638	57	3	726	3	SULT1A1	16	28619888	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	990133	28619888	61734865	2503	16802											
SPNS1	83985	broad.mit.edu	37	chr16	28995116	28995116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccctgcagatctctgacCgcctgcgccggaactggccc	10	18	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:28995116C>T	uc010vdi.1	+	12	1470	c.1330C>T	c.(1330-1332)CGC>TGC	p.R444C	uc010vct.1_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.R371C|SPNS1_uc002dsa.2_Missense_Mutation_p.R444C|SPNS1_uc002drz.2_Missense_Mutation_p.R392C|SPNS1_uc010byp.2_Missense_Mutation_p.R370C|SPNS1_uc010byq.1_Intron|LAT_uc010vdj.1_5'Flank|LAT_uc002dsb.2_5'Flank|LAT_uc002dsd.2_5'Flank|LAT_uc002dsc.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 isoform 1	444					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding				0						GATCTCTGACCGCCTGCGCCG	0.642													T	28995116	C	T	28995116	3	4	19	1	0	0	0	0	1	0	0	0	15073	652	23	1	1372	1	SPNS1	16	28995116	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	375228	28995116	61359637	2504	16803											
MAZ	4150	broad.mit.edu	37	chr16	29819116	29819116	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcgctgtgcacaagccctAcaactgctcccactgtggca	10	16	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:29819116A>G	uc002dty.2	+	2	1178	c.1010A>G	c.(1009-1011)TAC>TGC	p.Y337C	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Missense_Mutation_p.Y314C|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_Missense_Mutation_p.Y337C|MAZ_uc010bzg.2_Intron|MAZ_uc002dtz.1_Missense_Mutation_p.Y55C|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank	NM_002383	NP_002374	P56270	MAZ_HUMAN	MYC-associated zinc finger protein isoform 1	337	C2H2-type 4.				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1						CACAAGCCCTACAACTGCTCC	0.682													G	29819116	A	G	29819116	3	3	19	1	0	0	0	0	1	0	0	0	9340	391	14	3	1016	3	MAZ	16	29819116	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	824000	29819116	60535637	2505	16804											
C16orf53	79447	broad.mit.edu	37	chr16	29831021	29831021	+	Frame_Shift_Del	DEL	C	C	-													gaggaccccagccccgccagCcccccactccgatcctccgg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:29831020_29831020GC>G	uc002dug.4	+	2	1029	c.710_710GC>G	c.(709-711)agcfs	p.S237fs	BOLA2_uc010bzb.1_Intron|BC029255_uc002duh.1_Intron|MVP_uc010bzh.2_5'Flank|MVP_uc010vdz.2_5'Flank|MVP_uc002dui.3_5'Flank|MVP_uc002duj.3_5'Flank	NM_024516	NP_078792	Q9BTK6	PA1_HUMAN	Homo sapiens chromosome 16 open reading frame 53 (C16orf53), mRNA.	237										kidney(1)|lung(1)|prostate(1)	3						AGCCCCGCCAGCCCCCCACTC	0.622													-	29831021	C	-	29831021	7	5	19	1	0	1	0	1	0	0	0	0	1818	738	26	0	721	0	C16orf53	16	29831021	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	11905	29831021	60523732	2506	16805											
SEZ6L2	26470	broad.mit.edu	37	chr16	29910333	29910333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggtgctgggccctgggaGtccccatggcgactcacccc	15	16	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:29910333G>A	uc002duq.3	-	1	248	c.8C>T	c.(7-9)ACT>ATT	p.T3I	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.T3I|SEZ6L2_uc002dur.3_Missense_Mutation_p.T3I|SEZ6L2_uc002dus.3_Missense_Mutation_p.T3I|SEZ6L2_uc010vec.1_Missense_Mutation_p.T3I|SEZ6L2_uc010ved.1_Missense_Mutation_p.T3I|ASPHD1_uc002dut.2_5'Flank|ASPHD1_uc002duu.3_5'Flank|ASPHD1_uc010bzi.2_5'Flank	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	3						endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						GGCCCTGGGAGTCCCCATGGC	0.582													A	29910333	G	A	29910333	3	1	19	1	0	0	0	0	1	0	0	0	14144	1029	36	4	2835	4	SEZ6L2	16	29910333	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	79312	29910333	60444420	2507	16806											
TAOK2	9344	broad.mit.edu	37	chr16	29999030	29999030	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacccaacacccattagctcTgttggcaagggtctgggtcc	10	14	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:29999030T>C	uc002dva.1	+	16	4220	c.3437T>C	c.(3436-3438)CTG>CCG	p.L1146P	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.L1153P|TAOK2_uc002dvd.1_Missense_Mutation_p.L973P	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	1146					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						CCATTAGCTCTGTTGGCAAGG	0.652													C	29999030	T	C	29999030	3	2	19	1	0	0	0	0	1	0	0	0	15545	1580	55	3	3495	3	TAOK2	16	29999030	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	88697	29999030	60355723	2508	16807											
HIRIP3	8479	broad.mit.edu	37	chr16	30004857	30004857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctccttcagggcccgaCacttccctagggaaggggta	12	13	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:30004857C>T	uc002dve.2	-	6	1891	c.1430G>A	c.(1429-1431)TGT>TAT	p.C477Y	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_Silent_p.V164V	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	477					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)	1						CAGGGCCCGACACTTCCCTAG	0.637													T	30004857	C	T	30004857	3	4	19	1	0	0	0	0	1	0	0	0	7121	478	17	4	248	4	HIRIP3	16	30004857	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	5827	30004857	60349896	2509	16808											
INO80E	283899	broad.mit.edu	37	chr16	30012832	30012832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcgggagaaacggccccGcctgccccggaaactcaagg	13	15	1	1	rs147726848		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:30012832G>A	uc002dvg.1	+	6	595	c.494G>A	c.(493-495)CGC>CAC	p.R165H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_RNA|INO80E_uc002dvi.1_Missense_Mutation_p.R165H|INO80E_uc002dvj.1_RNA|INO80E_uc002dvk.1_Intron	NM_173618	NP_775889	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	165	Pro-rich.				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				skin(1)	1						AAACGGCCCCGCCTGCCCCGG	0.597													A	30012832	G	A	30012832	3	1	19	1	0	0	0	0	1	0	0	0	7750	1087	38	1	516	1	INO80E	16	30012832	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	7975	30012832	60341921	2510	16809											
DOC2A	8448	broad.mit.edu	37	chr16	30018259	30018259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcccctgcccctgctccGcctgctccaactgcggggca	11	20	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:30018259G>A	uc002dvm.2	-	8	825	c.725C>T	c.(724-726)GCG>GTG	p.A242V	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|DOC2A_uc002dvl.2_Missense_Mutation_p.A240V|DOC2A_uc002dvn.2_Missense_Mutation_p.A242V|DOC2A_uc010vef.1_RNA|DOC2A_uc002dvo.2_Missense_Mutation_p.A242V|DOC2A_uc002dvp.2_Missense_Mutation_p.A242V|DOC2A_uc002dvq.2_Missense_Mutation_p.A242V	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	242	Interaction with UNC13D.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			ovary(2)	2						CCCCTGCTCCGCCTGCTCCAA	0.682													A	30018259	G	A	30018259	3	1	19	1	0	0	0	0	1	0	0	0	4683	1087	38	1	493	1	DOC2A	16	30018259	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	5427	30018259	60336494	2511	16810											
PPP4C	5531	broad.mit.edu	37	chr16	30096053	30096053	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcagtgacgtggtggcccAgttcaacgcagccaatgaca	13	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:30096053A>G	uc002dwe.2	+	8	815	c.671A>G	c.(670-672)CAG>CGG	p.Q224R	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Missense_Mutation_p.Q224R|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Missense_Mutation_p.Q145R	NM_002720	NP_002711	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	224					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			skin(1)	1						GTGGTGGCCCAGTTCAACGCA	0.582													G	30096053	A	G	30096053	3	3	19	1	0	0	0	0	1	0	0	0	12402	188	7	3	697	3	PPP4C	16	30096053	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	77794	30096053	60258700	2512	16811											
PPP4C	5531	broad.mit.edu	37	chr16	30096119	30096119	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggtgatggaaggttacaAgtggcacttcaatgagacgg	14	6	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:30096119A>G	uc002dwe.2	+	8	881	c.737A>G	c.(736-738)AAG>AGG	p.K246R	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Missense_Mutation_p.K246R|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Missense_Mutation_p.K167R	NM_002720	NP_002711	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	246					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			skin(1)	1						GAAGGTTACAAGTGGCACTTC	0.602													G	30096119	A	G	30096119	3	3	19	1	0	0	0	0	1	0	0	0	12402	72	3	3	763	3	PPP4C	16	30096119	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	66	30096119	60258634	2513	16812											
SRCAP	10847	broad.mit.edu	37	chr16	30736371	30736372	+	Frame_Shift_Ins	INS	-	-	C													cccccggcctcgacgccagcINScccccccaccacctcgttcc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:30736370_30736371G>GC	uc002dze.1	+	24	6010_6011	c.5625_5626G>GC	c.(5623-5628)cagcccfs	p.Q1875fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Ins_p.Q1670fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1875	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGACGCCAGCCCCCCCCACC	0.569													C	30736372	-	C	30736371	7	5	19	1	0	1	1	0	0	0	0	0	15134	739	26	0	5716	0	SRCAP	16	30736371	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	640252	30736371	59618382	2514	16813											
ZNF646	9726	broad.mit.edu	37	chr16	31091576	31091576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcggacctatcgccacGccggcagcctcctgaaccac	12	18	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:31091576G>A	uc002eap.2	+	2	4220	c.3931G>A	c.(3931-3933)GCC>ACC	p.A1311T		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1311	C2H2-type 23.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						CTATCGCCACGCCGGCAGCCT	0.697													A	31091576	G	A	31091576	3	1	19	1	0	0	0	0	1	0	0	0	18059	1087	38	1	3933	1	ZNF646	16	31091576	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	355205	31091576	59263177	2515	16814											
BCKDK	10295	broad.mit.edu	37	chr16	31121734	31121734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttacaggatgaaaagctcGtccgctacttcttggacaag	9	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:31121734G>A	uc002eaw.3	+	7	872	c.556G>A	c.(556-558)GTC>ATC	p.V186I	BCKDK_uc002eav.3_Missense_Mutation_p.V186I|BCKDK_uc010cah.2_RNA|BCKDK_uc010cai.2_Missense_Mutation_p.V186I	NM_005881	NP_005872	O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	186	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			stomach(1)|breast(1)	2						TGAAAAGCTCGTCCGCTACTT	0.587													A	31121734	G	A	31121734	3	1	19	1	0	0	0	0	1	0	0	0	1361	1145	40	1	578	1	BCKDK	16	31121734	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	30158	31121734	59233019	2516	16815											
BCKDK	10295	broad.mit.edu	37	chr16	31122443	31122443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacaagtatggcaatgcgCcccgtgtccgcatcaatggc	11	13	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:31122443C>T	uc002eaw.3	+	9	1064	c.748C>T	c.(748-750)CCC>TCC	p.P250S	BCKDK_uc002eav.3_Missense_Mutation_p.P250S|BCKDK_uc010cah.2_RNA|BCKDK_uc010cai.2_Missense_Mutation_p.P250S	NM_005881	NP_005872	O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	250	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			stomach(1)|breast(1)	2						TGGCAATGCGCCCCGTGTCCG	0.522													T	31122443	C	T	31122443	3	4	19	1	0	0	0	0	1	0	0	0	1361	739	26	2	778	2	BCKDK	16	31122443	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	709	31122443	59232310	2517	16816											
PYCARD	29108	broad.mit.edu	37	chr16	31213142	31213142	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcgataagcgcagcccggtGctggtctataaagtgcaggc	14	11	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:31213142G>T	uc010cak.2	-	3	592	c.352C>A	c.(352-354)CAC>AAC	p.H118N	PYCARD_uc002ebm.2_Missense_Mutation_p.H99N	NM_013258	NP_037390	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing isoform a	118	CARD.				induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding				0						GCAGCCCGGTGCTGGTCTATA	0.602													T	31213142	G	T	31213142	3	4	19	1	0	0	0	0	1	0	0	0	12854	1319	46	5	239	5	PYCARD	16	31213142	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	90699	31213142	59141611	2518	16817											
ITGAX	3687	broad.mit.edu	37	chr16	31388516	31388516	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctccagtgagaacaacactCccaggaccagcaagaccacc	7	16	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:31388516C>A	uc002ebu.1	+	23	2786	c.2719C>A	c.(2719-2721)CCC>ACC	p.P907T	ITGAX_uc002ebt.2_Missense_Mutation_p.P907T	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	907	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GAACAACACTCCCAGGACCAG	0.582													A	31388516	C	A	31388516	3	1	19	1	0	0	0	0	1	0	0	0	7889	855	30	5	2809	5	ITGAX	16	31388516	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	175374	31388516	58966237	2519	16818											
GPT2	84706	broad.mit.edu	37	chr16	46934625	46934625	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcacctacccaaacctgcTggacagccccagcttcccag	7	18	0	0	rs115391450	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:46934625T>G	uc002eel.2	+	4	459	c.365T>G	c.(364-366)CTG>CGG	p.L122R	GPT2_uc002eem.2_Missense_Mutation_p.L22R	NM_133443	NP_597700	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase 2 isoform 1	122					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)|skin(1)	2		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCAAACCTGCTGGACAGCCCC	0.627													G	46934625	T	G	46934625	3	3	19	1	0	0	0	0	1	0	0	0	6738	1580	55	5	375	5	GPT2	16	46934625	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	15546109	46934625	43420128	2520	16819											
ABCC12	94160	broad.mit.edu	37	chr16	48173146	48173146	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagaatgaaaaaggcgtaCgccgcacaaaagaccattag	9	11	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:48173146C>T	uc002efc.1	-	5	1105	c.759G>A	c.(757-759)GCG>GCA	p.A253A	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Silent_p.A253A|ABCC12_uc010vgj.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	253	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				AAAAGGCGTACGCCGCACAAA	0.473													T	48173146	C	T	48173146	2	4	19	1	0	0	0	0	0	0	0	1	52	523	19	1		1	ABCC12	16	48173146	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1238521	48173146	42181607	2521	16820											
ABCC11	85320	broad.mit.edu	37	chr16	48250029	48250029	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagaaagacattaccgccAgtgggaaaaccaggagatag	12	8	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:48250029A>C	uc002eff.1	-	6	1297	c.947T>G	c.(946-948)CTG>CGG	p.L316R	ABCC11_uc002efg.1_Missense_Mutation_p.L316R|ABCC11_uc002efh.1_Missense_Mutation_p.L316R|ABCC11_uc010vgk.1_5'Flank|ABCC11_uc010vgl.1_Missense_Mutation_p.L316R	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	316	ABC transmembrane type-1 1.|Helical; (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CATTACCGCCAGTGGGAAAAC	0.473									Cerumen_Type				C	48250029	A	C	48250029	3	2	19	1	0	0	0	0	1	0	0	0	51	188	7	5	3297	5	ABCC11	16	48250029	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	76883	48250029	42104724	2522	16821											
NKD1	85407	broad.mit.edu	37	chr16	50667135	50667136	+	Frame_Shift_Ins	INS	-	-	C													ggcccagaagtcagaactgcINSccccccgcacctccaatccc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:50667134_50667135G>GC	uc002egg.2	+	9	1079_1080	c.855_856G>GC	c.(853-858)ctgcccfs	p.L285fs		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	285					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599													C	50667136	-	C	50667135	7	5	19	1	0	1	1	0	0	0	0	0	10441	739	26	0	894	0	NKD1	16	50667135	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	2417106	50667135	39687618	2523	16822											
NOD2	64127	broad.mit.edu	37	chr16	50733415	50733415	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggttgtgaaatgtgctcGcaggaggcttttcaggcaca	13	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:50733415G>A	uc002egm.1	+	2	195	c.90G>A	c.(88-90)TCG>TCA	p.S30S	NOD2_uc010cbj.1_Silent_p.S3S|NOD2_uc010cbk.1_Silent_p.S3S|NOD2_uc002egl.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	30	CARD 1.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				AAATGTGCTCGCAGGAGGCTT	0.617													A	50733415	G	A	50733415	2	1	19	1	0	0	0	0	0	0	0	1	10517	1074	38	1		1	NOD2	16	50733415	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	66280	50733415	39621338	2524	16823											
CHD9	80205	broad.mit.edu	37	chr16	53358048	53358048	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaggccacagcagcagcAgctgctgcatctgccaccag	11	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:53358048A>T	uc002ehb.2	+	38	8099	c.7935A>T	c.(7933-7935)GCA>GCT	p.A2645A	CHD9_uc002egy.2_Silent_p.A2629A|CHD9_uc002ehc.2_Silent_p.A2630A|CHD9_uc002ehf.2_Silent_p.A1743A|CHD9_uc010cbw.2_Silent_p.A711A	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2645	Poly-Ala.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				CAGCAGCAGCAGCTGCTGCAT	0.512													T	53358048	A	T	53358048	2	4	19	1	0	0	0	0	0	0	0	1	3332	175	7	5		5	CHD9	16	53358048	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2624633	53358048	36996705	2525	16824											
RBL2	5934	broad.mit.edu	37	chr16	53476704	53476704	+	Frame_Shift_Del	DEL	T	T	-													ttttaagaaatatgaacccaTttttcaggacatctttaaat							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:53476703_53476703AT>A	uc002ehi.4	+	2	623	c.505_505AT>A	c.(505-507)attfs	p.I169fs	RBL2_uc010vgv.1_Frame_Shift_Del_p.I95fs	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	169					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.P168L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATATGAACCCATTTTTCAGGA	0.413													-	53476704	T	-	53476704	7	5	19	1	0	1	0	1	0	0	0	0	13110	1493	52	0	516	0	RBL2	16	53476704	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	118656	53476704	36878049	2526	16825											
LPCAT2	54947	broad.mit.edu	37	chr16	55562369	55562369	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatagttgctgtaaaaggaaAgattgcaagtcctttggaag	11	4	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:55562369A>C	uc002eie.3	+	3	573	c.392A>C	c.(391-393)AAG>ACG	p.K131T		NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	131	Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0						GTAAAAGGAAAGATTGCAAGT	0.373													C	55562369	A	C	55562369	3	2	19	1	0	0	0	0	1	0	0	0	8911	72	3	5	402	5	LPCAT2	16	55562369	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2085665	55562369	34792384	2527	16826											
SLC6A2	6530	broad.mit.edu	37	chr16	55705925	55705925	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catcatcgcctggtcactctActacctcttctcctccttca	3	18	6	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:55705925A>T	uc002eif.2	+	4	593	c.482A>T	c.(481-483)TAC>TTC	p.Y161F	SLC6A2_uc010ccd.2_Missense_Mutation_p.Y161F|SLC6A2_uc002eig.2_Missense_Mutation_p.Y161F|SLC6A2_uc002eih.2_Missense_Mutation_p.Y161F|SLC6A2_uc002eii.2_Missense_Mutation_p.Y56F	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	161	Extracellular (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGGTCACTCTACTACCTCTTC	0.582													T	55705925	A	T	55705925	3	4	19	1	0	0	0	0	1	0	0	0	14683	391	14	5	583	5	SLC6A2	16	55705925	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	143556	55705925	34648828	2528	16827											
AMFR	267	broad.mit.edu	37	chr16	56437005	56437005	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagatgaccaggctggccAtggataaccagatgttgcca	11	9	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:56437005A>G	uc002eiy.2	-	7	1071	c.866T>C	c.(865-867)ATG>ACG	p.M289T	AMFR_uc002eix.2_5'UTR	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor	289	Helical; (Potential).				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)	2						CAGGCTGGCCATGGATAACCA	0.458													G	56437005	A	G	56437005	3	3	19	1	0	0	0	0	1	0	0	0	571	217	8	3	1097	3	AMFR	16	56437005	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	731080	56437005	33917748	2529	16828											
NUDT21	11051	broad.mit.edu	37	chr16	56485066	56485066	+	Frame_Shift_Del	DEL	C	C	-													cttgttgccgaactgagtgaCcccccggggccagccggtct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:56485065_56485065AC>A	uc002eja.3	-	0	197	c.50_50GT>T	c.(49-51)gtcfs	p.V17fs	OGFOD1_uc002ejb.3_5'Flank|OGFOD1_uc002ejc.3_5'Flank	NM_007006	NP_008937	O43809	CPSF5_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 21 (NUDT21), mRNA.	17	Necessary for RNA-binding.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						GAACTGAGTGACCCCCCGGGG	0.647													-	56485066	C	-	56485066	7	5	19	1	0	1	0	1	0	0	0	0	10738	507	18	0	662	0	NUDT21	16	56485066	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	48061	56485066	33869687	2530	16829											
BBS2	583	broad.mit.edu	37	chr16	56545131	56545131	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcacaattgccaccaatAatcgcaagaggggaagaaat	10	8	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:56545131A>G	uc002ejd.2	-	3	645	c.411T>C	c.(409-411)ATT>ATC	p.I137I	BBS2_uc010ccg.2_Silent_p.I137I	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2 protein	137					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			ovary(1)	1						TGCCACCAATAATCGCAAGAG	0.413									Bardet-Biedl_syndrome				G	56545131	A	G	56545131	2	3	19	1	0	0	0	0	0	0	0	1	1338	358	13	3		3	BBS2	16	56545131	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	60065	56545131	33809622	2531	16830											
CX3CL1	6376	broad.mit.edu	37	chr16	57416777	57416777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccacccggaggcaggcgGtggggctgctggccttcctt	16	14	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:57416777G>A	uc002eli.2	+	3	1094	c.1027G>A	c.(1027-1029)GTG>ATG	p.V343M		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	343	Helical; (Potential).				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity				0						GAGGCAGGCGGTGGGGCTGCT	0.647													A	57416777	G	A	57416777	3	1	19	1	0	0	0	0	1	0	0	0	4074	1261	44	4	1037	4	CX3CL1	16	57416777	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	871646	57416777	32937976	2532	16831											
COQ9	57017	broad.mit.edu	37	chr16	57486772	57486772	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtgaggagcagttgcagcAccgcatcctgacggcagccc	13	13	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:57486772A>G	uc002elq.2	+	3	318	c.302A>G	c.(301-303)CAC>CGC	p.H101R	COQ9_uc002elp.1_Missense_Mutation_p.H101R|COQ9_uc010vhn.1_Missense_Mutation_p.H101R|COQ9_uc010vho.1_Missense_Mutation_p.H101R|COQ9_uc010vhp.1_Missense_Mutation_p.H101R|COQ9_uc002elr.2_Missense_Mutation_p.H101R	NM_020312	NP_064708	O75208	COQ9_HUMAN	coenzyme Q9 homolog precursor	101					ubiquinone biosynthetic process	mitochondrion				breast(1)	1						CAGTTGCAGCACCGCATCCTG	0.602													G	57486772	A	G	57486772	3	3	19	1	0	0	0	0	1	0	0	0	3751	159	6	3	312	3	COQ9	16	57486772	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	69995	57486772	32867981	2533	16832											
KATNB1	10300	broad.mit.edu	37	chr16	57778313	57778313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctctccacagagcctgaCgggccacacatccccagtgg	9	17	2	2	rs139636269		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:57778313C>T	uc002eml.1	+	4	553	c.179C>T	c.(178-180)ACG>ATG	p.T60M		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	60	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity				0		all_neural(199;0.223)				CAGAGCCTGACGGGCCACACA	0.637													T	57778313	C	T	57778313	3	4	19	1	0	0	0	0	1	0	0	0	7987	536	19	1	189	1	KATNB1	16	57778313	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	291541	57778313	32576440	2534	16833											
KATNB1	10300	broad.mit.edu	37	chr16	57785608	57785608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgatgggaagtggttggCgtcggccgcagatgaccaca	15	12	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:57785608C>T	uc002eml.1	+	7	862	c.488C>T	c.(487-489)GCG>GTG	p.A163V		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	163	Interaction with centrosomes.|Interaction with dynein (By similarity).|WD 4.				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity				0		all_neural(199;0.223)				AAGTGGTTGGCGTCGGCCGCA	0.682													T	57785608	C	T	57785608	3	4	19	1	0	0	0	0	1	0	0	0	7987	768	27	1	510	1	KATNB1	16	57785608	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	7295	57785608	32569145	2535	16834											
MMP15	4324	broad.mit.edu	37	chr16	58072273	58072273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgccctcaccgggaggaagTggaacaaccaccatctgacc	10	15	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:58072273T>C	uc002ena.2	+	3	1388	c.415T>C	c.(415-417)TGG>CGG	p.W139R		NM_002428	NP_002419	P51511	MMP15_HUMAN	matrix metalloproteinase 15 preproprotein	139	Extracellular (Potential).				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			central_nervous_system(2)|breast(1)	3						CGGGAGGAAGTGGAACAACCA	0.652													C	58072273	T	C	58072273	3	2	19	1	0	0	0	0	1	0	0	0	9654	1696	59	3	425	3	MMP15	16	58072273	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	286665	58072273	32282480	2536	16835											
RRAD	6236	broad.mit.edu	37	chr16	66957424	66957424	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgcctactcaccatccAccgagacctcacgagagcgc	8	19	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:66957424A>G	uc002eqn.2	-	4	796	c.644T>C	c.(643-645)GTG>GCG	p.V215A	RRAD_uc002eqo.2_Missense_Mutation_p.V215A	NM_001128850	NP_001122322	P55042	RAD_HUMAN	Ras-related associated with diabetes	215					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		CTCACCATCCACCGAGACCTC	0.632													G	66957424	A	G	66957424	3	3	19	1	0	0	0	0	1	0	0	0	13671	159	6	3	290	3	RRAD	16	66957424	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	8885151	66957424	23397329	2537	16836											
CES2	8824	broad.mit.edu	37	chr16	66974153	66974153	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggatccacggtggtgcgcTtgtttttggcatggcttcct	14	9	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:66974153T>C	uc002eqr.2	+	4	1644	c.644T>C	c.(643-645)CTT>CCT	p.L215P	CES2_uc002eqq.2_Missense_Mutation_p.L215P|CES2_uc002eqs.2_Missense_Mutation_p.L58P	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	151					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GGTGGTGCGCTTGTTTTTGGC	0.577													C	66974153	T	C	66974153	3	2	19	1	0	0	0	0	1	0	0	0	3270	1609	56	3	658	3	CES2	16	66974153	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	16729	66974153	23380600	2538	16837											
CBFB	865	broad.mit.edu	37	chr16	67100670	67100670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagactggatggtatggGctgtctggagtttgatgagg	16	5	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:67100670G>A	uc002era.2	+	4	629	c.368G>A	c.(367-369)GGC>GAC	p.G123D	CBFB_uc002erb.2_Missense_Mutation_p.G123D|CBFB_uc010vja.1_Intron	NM_001755	NP_001746	Q13951	PEBB_HUMAN	core-binding factor, beta subunit isoform 2	123					transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		GATGGTATGGGCTGTCTGGAG	0.473			T	MYH11	AML								A	67100670	G	A	67100670	3	1	19	1	0	0	0	0	1	0	0	0	2699	1203	42	2	382	2	CBFB	16	67100670	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	126517	67100670	23254083	2539	16838											
E2F4	1874	broad.mit.edu	37	chr16	67229866	67229866	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagttcgtccggacccaaCccttctacctcctttgagcc	7	17	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:67229866C>T	uc002erz.2	+	7	1053	c.990C>T	c.(988-990)AAC>AAT	p.N330N		NM_001950	NP_001941	Q16254	E2F4_HUMAN	E2F transcription factor 4	330					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CCGGACCCAACCCTTCTACCT	0.438													T	67229866	C	T	67229866	2	4	19	1	0	0	0	0	0	0	0	1	4869	506	18	4		4	E2F4	16	67229866	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	129196	67229866	23124887	2540	16839											
PLEKHG4	25894	broad.mit.edu	37	chr16	67320812	67320812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacacatttgcctacaagcGctccttcaaggtaggcctgc	9	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:67320812G>A	uc002eso.3	+	16	5450	c.2915G>A	c.(2914-2916)CGC>CAC	p.R972H	PLEKHG4_uc002esp.3_Missense_Mutation_p.R779H|PLEKHG4_uc002esq.3_Missense_Mutation_p.R972H|PLEKHG4_uc010cef.2_Missense_Mutation_p.R972H|PLEKHG4_uc002ess.3_Missense_Mutation_p.R972H|PLEKHG4_uc010ceg.2_Missense_Mutation_p.R891H	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	972	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GCCTACAAGCGCTCCTTCAAG	0.622													A	67320812	G	A	67320812	3	1	19	1	0	0	0	0	1	0	0	0	12071	1087	38	1	2977	1	PLEKHG4	16	67320812	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	90946	67320812	23033941	2541	16840											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67472482	67472482	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgcggtggcgctgggcgatAcattcagcgatccacacgat	14	12	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:67472482A>G	uc002ete.1	-	8	1105	c.1005T>C	c.(1003-1005)TGT>TGC	p.C335C	ATP6V0D1_uc010vjo.1_Silent_p.C376C|ATP6V0D1_uc010vjn.1_Silent_p.C258C	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	335					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		GCTGGGCGATACATTCAGCGA	0.483													G	67472482	A	G	67472482	2	3	19	1	0	0	0	0	0	0	0	1	1173	389	14	3		3	ATP6V0D1	16	67472482	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	151670	67472482	22882271	2542	16841											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67473020	67473020	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccgaaagaattgatggTgatgatgaaggcgcggcggt	17	5	0	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:67473020T>C	uc002ete.1	-	6	770	c.670A>G	c.(670-672)ACC>GCC	p.T224A	ATP6V0D1_uc010vjo.1_Missense_Mutation_p.T265A|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.T147A	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	224					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		GAATTGATGGTGATGATGAAG	0.587													C	67473020	T	C	67473020	3	2	19	1	0	0	0	0	1	0	0	0	1173	1696	59	3	397	3	ATP6V0D1	16	67473020	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	538	67473020	22881733	2543	16842											
FAM65A	79567	broad.mit.edu	37	chr16	67576357	67576357	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctctacctatagtgccatTaccactacccacagtgctcc	6	16	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:67576357T>C	uc010vjp.1	+	13	1824	c.1728T>C	c.(1726-1728)ATT>ATC	p.I576I	FAM65A_uc010cei.1_Silent_p.I398I|FAM65A_uc002eth.2_Silent_p.I556I|FAM65A_uc010cej.2_Silent_p.I559I|FAM65A_uc002eti.1_Silent_p.I519I|FAM65A_uc010vjq.1_Silent_p.I570I|FAM65A_uc002etj.1_Silent_p.I555I|FAM65A_uc002etk.2_Silent_p.I555I	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	560	Pro-rich.					cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		ATAGTGCCATTACCACTACCC	0.537													C	67576357	T	C	67576357	2	2	19	1	0	0	0	0	0	0	0	1	5599	1742	61	3		3	FAM65A	16	67576357	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	103337	67576357	22778396	2544	16843											
CTCF	10664	broad.mit.edu	37	chr16	67645339	67645340	+	Frame_Shift_Ins	INS	-	-	A													agactatcagccaccagccaINSaaaaaacaaagaaaaccaaa							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:67645338_67645339C>CA	uc002etl.3	+	2	1047_1048	c.603_604C>CA	c.(601-606)gccaaafs	p.A201fs	CTCF_uc010cek.3_Intron	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	201					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGCCACCAGCCAAAAAAACAAA	0.475													A	67645340	-	A	67645339	7	5	19	1	0	1	1	0	0	0	0	0	4000	131	5	0	606	0	CTCF	16	67645339	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	68982	67645339	22709414	2545	16844											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67861174	67861174	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcctcaagagtaccttcCctctcaagacagaagagcaa	7	13	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:67861174C>A	uc002euj.2	+	14	1919	c.1525C>A	c.(1525-1527)CCT>ACT	p.P509T	TSNAXIP1_uc010vjz.1_Missense_Mutation_p.P386T|TSNAXIP1_uc002euf.3_Missense_Mutation_p.P242T|TSNAXIP1_uc010vka.1_Missense_Mutation_p.P563T|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.P494T|TSNAXIP1_uc002eug.3_Missense_Mutation_p.P217T|TSNAXIP1_uc002euh.3_Missense_Mutation_p.P217T|TSNAXIP1_uc002eui.3_Missense_Mutation_p.P217T|TSNAXIP1_uc002euk.2_Missense_Mutation_p.P242T	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	509					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GAGTACCTTCCCTCTCAAGAC	0.557													A	67861174	C	A	67861174	3	1	19	1	0	0	0	0	1	0	0	0	16629	623	22	5	1571	5	TSNAXIP1	16	67861174	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	215835	67861174	22493579	2546	16845											
EDC4	23644	broad.mit.edu	37	chr16	67914024	67914024	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggatggcagcctgacaatgAgcagcagtggcagccttcag	14	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:67914024A>G	uc002eur.2	+	17	2168	c.2002A>G	c.(2002-2004)AGC>GGC	p.S668G	EDC4_uc010cer.2_Missense_Mutation_p.S287G|EDC4_uc010vkg.1_Missense_Mutation_p.S600G|EDC4_uc002eus.2_Missense_Mutation_p.S398G|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	668	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CCTGACAATGAGCAGCAGTGG	0.662													G	67914024	A	G	67914024	3	3	19	1	0	0	0	0	1	0	0	0	4908	304	11	3	2068	3	EDC4	16	67914024	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	52850	67914024	22440729	2547	16846											
PSKH1	5681	broad.mit.edu	37	chr16	67942930	67942930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggccaagtttgacccacGtgttacagctaagtatgaca	10	10	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:67942930G>A	uc002euv.2	+	2	448	c.278G>A	c.(277-279)CGT>CAT	p.R93H	PSKH1_uc010cet.2_Missense_Mutation_p.R93H	NM_006742	NP_006733	P11801	KPSH1_HUMAN	protein serine kinase H1	93						endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		TTTGACCCACGTGTTACAGCT	0.622													A	67942930	G	A	67942930	3	1	19	1	0	0	0	0	1	0	0	0	12664	1145	40	1	280	1	PSKH1	16	67942930	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	28906	67942930	22411823	2548	16847											
DUS2L	54920	broad.mit.edu	37	chr16	68100478	68100478	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcctcagctagaagatAccctgagccttgtgaagcgg	10	13	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:68100478A>G	uc002evi.2	+	10	642	c.493A>G	c.(493-495)ACC>GCC	p.T165A	DUS2L_uc002evj.2_Missense_Mutation_p.T165A|DUS2L_uc010vkk.1_Missense_Mutation_p.T130A|DUS2L_uc010cez.2_Missense_Mutation_p.T78A	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2-like, SMM1 homolog	165					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		GCTAGAAGATACCCTGAGCCT	0.552													G	68100478	A	G	68100478	3	3	19	1	0	0	0	0	1	0	0	0	4806	391	14	3	523	3	DUS2L	16	68100478	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	157548	68100478	22254275	2549	16848											
SLC7A6OS	84138	broad.mit.edu	37	chr16	68337993	68337993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatccagcctggagtggccGtctccaagtagtaaatgtca	10	11	2	0	rs139184366		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:68337993G>A	uc002evw.1	-	3	633	c.614C>T	c.(613-615)ACG>ATG	p.T205M		NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite	205					protein transport	cytoplasm|nucleus				ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		TGGAGTGGCCGTCTCCAAGTA	0.542													A	68337993	G	A	68337993	3	1	19	1	0	0	0	0	1	0	0	0	14702	1145	40	1	327	1	SLC7A6OS	16	68337993	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	237515	68337993	22016760	2550	16849											
CDH1	999	broad.mit.edu	37	chr16	68835685	68835685	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggcctctacggtttcaTaacccacagatccatttctt	5	12	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:68835685T>C	uc002ewg.1	+	3	400	c.276T>C	c.(274-276)CAT>CAC	p.H92H	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Silent_p.H92H	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	92					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.H92Y(1)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TACGGTTTCATAACCCACAGA	0.517			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				C	68835685	T	C	68835685	2	2	19	1	0	0	0	0	0	0	0	1	3095	1403	49	3		3	CDH1	16	68835685	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	497692	68835685	21519068	2551	16850											
NFAT5	10725	broad.mit.edu	37	chr16	69687169	69687169	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccaaaaaggaactggagtAaagaagagccctatgttgtg	11	6	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:69687169A>G	uc002exm.1	+	4	1997	c.789A>G	c.(787-789)GTA>GTG	p.V263V	NFAT5_uc002exh.1_Silent_p.V57V|NFAT5_uc002exi.2_Silent_p.V187V|NFAT5_uc002exj.1_Silent_p.V187V|NFAT5_uc002exk.1_Silent_p.V187V|NFAT5_uc002exl.1_Silent_p.V281V|NFAT5_uc002exn.1_Silent_p.V281V	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	263					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						GAACTGGAGTAAAGAAGAGCC	0.383													G	69687169	A	G	69687169	2	3	19	1	0	0	0	0	0	0	0	1	10360	349	13	3		3	NFAT5	16	69687169	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	851484	69687169	20667584	2552	16851											
NFAT5	10725	broad.mit.edu	37	chr16	69725814	69725814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccagagaccctgacaactAttcaaacccaggacatctca	5	15	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:69725814A>G	uc002exm.1	+	12	3240	c.2032A>G	c.(2032-2034)ATT>GTT	p.I678V	NFAT5_uc002exi.2_Missense_Mutation_p.I602V|NFAT5_uc002exj.1_Missense_Mutation_p.I602V|NFAT5_uc002exk.1_Missense_Mutation_p.I602V|NFAT5_uc002exl.1_Missense_Mutation_p.I696V|NFAT5_uc002exn.1_Missense_Mutation_p.I695V|NFAT5_uc002exo.1_5'Flank	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	678					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						CCTGACAACTATTCAAACCCA	0.478													G	69725814	A	G	69725814	3	3	19	1	0	0	0	0	1	0	0	0	10360	449	16	3	2136	3	NFAT5	16	69725814	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	38645	69725814	20628939	2553	16852											
AARS	16	broad.mit.edu	37	chr16	70292118	70292118	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcaatcctgggtatagacGgcctgccagaccaagaagac	13	11	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:70292118G>T	uc002eyn.1	-	15	2105	c.1995C>A	c.(1993-1995)GCC>GCA	p.A665A	AARS_uc010vlu.1_Silent_p.A495A	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	665					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GGGTATAGACGGCCTGCCAGA	0.592													T	70292118	G	T	70292118	2	4	19	1	0	0	0	0	0	0	0	1	19	1103	39	5		5	AARS	16	70292118	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	566304	70292118	20062635	2554	16853											
DDX19B	11269	broad.mit.edu	37	chr16	70359507	70359507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccccaacgtatgagctcGccctccaaacaggaaaagtg	8	14	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:70359507G>A	uc002eyo.2	+	7	652	c.523G>A	c.(523-525)GCC>ACC	p.A175T	DDX19B_uc010vly.1_Missense_Mutation_p.A175T|DDX19A_uc002eys.2_Intron|DDX19B_uc010vlv.1_Missense_Mutation_p.A149T|DDX19B_uc010vlw.1_Missense_Mutation_p.A66T|DDX19B_uc002eyp.2_Missense_Mutation_p.A144T|DDX19B_uc002eyq.2_Missense_Mutation_p.A66T|DDX19B_uc002eyr.2_Missense_Mutation_p.A24T|DDX19B_uc010vlx.1_Missense_Mutation_p.A24T|uc002eyt.2_Intron	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform	175	Helicase ATP-binding.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			kidney(1)	1		Ovarian(137;0.0694)				GTATGAGCTCGCCCTCCAAAC	0.413													A	70359507	G	A	70359507	3	1	19	1	0	0	0	0	1	0	0	0	4347	1087	38	1	549	1	DDX19B	16	70359507	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	67389	70359507	19995246	2555	16854											
ST3GAL2	6483	broad.mit.edu	37	chr16	70422372	70422372	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcgggcaggttcttggcaCtctcagggtacatgaaatgg	15	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:70422372C>A	uc002eyw.2	-	3	2719	c.611G>T	c.(610-612)AGT>ATT	p.S204I	ST3GAL2_uc002eyx.2_Missense_Mutation_p.S204I	NM_006927	NP_008858	Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	204	Lumenal (Potential).				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			ovary(1)	1		Ovarian(137;0.0694)				GTTCTTGGCACTCTCAGGGTA	0.597													A	70422372	C	A	70422372	3	1	19	1	0	0	0	0	1	0	0	0	15214	565	20	5	457	5	ST3GAL2	16	70422372	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	62865	70422372	19932381	2556	16855											
COG4	25839	broad.mit.edu	37	chr16	70543282	70543282	+	Frame_Shift_Del	DEL	C	C	-													gctggtgggtctccacaatgCgggcaatccctagaagggag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:70543281_70543281GC>G	uc002ezc.3	-	6	866	c.855_855GC>C	c.(853-855)cgcfs	p.R285fs	COG4_uc002ezd.3_Frame_Shift_Del_p.R285fs|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_5'UTR	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.	281				T -> A (in Ref. 2; BAB14286).	Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TCTCCACAATGCGGGCAATCC	0.478													-	70543282	C	-	70543282	7	5	19	1	0	1	0	1	0	0	0	0	3660	768	27	0	1567	0	COG4	16	70543282	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	120910	70543282	19811471	2557	16856											
ZNF23	7571	broad.mit.edu	37	chr16	71487993	71487993	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcatcacatccctgtacaGggtcctctgtgcaggggaca	11	13	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:71487993G>T	uc002faf.2	-	4	800	c.-14C>A	c.(-16--12)CCCTG>CCATG		ZNF23_uc002fad.2_5'Flank|ZNF23_uc002fae.2_Translation_Start_Site|ZNF23_uc010vmf.1_Intron|ZNF23_uc002fag.2_Translation_Start_Site|ZNF23_uc002fah.2_Translation_Start_Site|ZNF23_uc002fai.2_Missense_Mutation_p.L34M	NM_145911	NP_666016	P17027	ZNF23_HUMAN	zinc finger protein 23						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TCCCTGTACAGGGTCCTCTGT	0.557													T	71487993	G	T	71487993	1	4	19	1	0	0	0	0	0	0	0	0	17780	1015	35	5		5	ZNF23	16	71487993	Translation_Start_Site	SNP	G	TCGA-BR-4361-01A-01D-1158-08	944711	71487993	18866760	2558	16857											
TXNL4B	54957	broad.mit.edu	37	chr16	72122889	72122889	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatcaactgcacttacccaTaatccactttcatatgctgc	4	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:72122889T>C	uc002fca.2	-	3	592	c.281A>G	c.(280-282)TAT>TGT	p.Y94C	TXNL4B_uc010cgl.2_RNA|TXNL4B_uc010vmn.1_Missense_Mutation_p.Y94C|TXNL4B_uc010vmo.1_Missense_Mutation_p.Y94C	NM_017853	NP_060323	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	94					mitosis|mRNA processing|RNA splicing	spliceosomal complex				ovary(1)	1						CACTTACCCATAATCCACTTT	0.383													C	72122889	T	C	72122889	3	2	19	1	0	0	0	0	1	0	0	0	16803	1406	49	3	176	3	TXNL4B	16	72122889	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	634896	72122889	18231864	2559	16858											
ZFHX3	463	broad.mit.edu	37	chr16	72991671	72991671	+	Frame_Shift_Del	DEL	C	C	-													tggtttggtcggcgagggggCcccgcaggagctactgatat							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:72991671delC	uc002fck.2	-	2	3047	c.2374delG	c.(2374-2376)GCCfs	p.A792fs	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	792					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GGCGAGGGGGCCCCGCAGGAG	0.483													-	72991671	C	-	72991671	7	5	19	1	0	1	0	1	0	0	0	0	17631	739	26	0	8773	0	ZFHX3	16	72991671	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	868782	72991671	17363082	2560	16859											
PSMD7	5713	broad.mit.edu	37	chr16	74330861	74330861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtccaccccctggtgctgCtcagtgtggtggatcatttc	12	12	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:74330861C>T	uc002fcq.2	+	1	181	c.49C>T	c.(49-51)CTC>TTC	p.L17F	PSMD7_uc010vmr.1_5'UTR	NM_002811	NP_002802	P51665	PSD7_HUMAN	proteasome 26S non-ATPase subunit 7	17	MPN.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding				0						CCTGGTGCTGCTCAGTGTGGT	0.692													T	74330861	C	T	74330861	3	4	19	1	0	0	0	0	1	0	0	0	12703	797	28	2	51	2	PSMD7	16	74330861	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1339190	74330861	16023892	2561	16860											
FA2H	79152	broad.mit.edu	37	chr16	74753037	74753037	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agagcccggggaacatggacTtgggcactgccaccgtgtac	14	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:74753037T>A	uc002fde.1	-	5	703	c.635A>T	c.(634-636)AAG>ATG	p.K212M	FA2H_uc002fdd.1_5'Flank|FA2H_uc010vmy.1_RNA	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	212					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity				0						GAACATGGACTTGGGCACTGC	0.622													A	74753037	T	A	74753037	3	1	19	1	0	0	0	0	1	0	0	0	5352	1609	56	5	495	5	FA2H	16	74753037	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	422176	74753037	15601716	2562	16861											
ZNRF1	84937	broad.mit.edu	37	chr16	75140387	75140387	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccctcctcccagctgcataGactcgtggtttgaagtgaac	9	14	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:75140387G>A	uc002fdk.2	+	4	1289	c.634G>A	c.(634-636)GAC>AAC	p.D212N	ZNRF1_uc002fdl.1_Missense_Mutation_p.D212N|ZNRF1_uc010cgr.1_Missense_Mutation_p.D263N	NM_032268	NP_115644	Q8ND25	ZNRF1_HUMAN	zinc and ring finger protein 1	212	RING-type; atypical.					cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding				0						CAGCTGCATAGACTCGTGGTT	0.597													A	75140387	G	A	75140387	3	1	19	1	0	0	0	0	1	0	0	0	18208	942	33	4	648	4	ZNRF1	16	75140387	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	387350	75140387	15214366	2563	16862											
CNTNAP4	85445	broad.mit.edu	37	chr16	76481946	76481946	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgatggaaaaagttccctTctctacagatttgatcaaaa	6	8	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:76481946T>C	uc002feu.1	+	7	961	c.576T>C	c.(574-576)CTT>CTC	p.L192L	CNTNAP4_uc002fev.1_Silent_p.L104L|CNTNAP4_uc010chb.1_Silent_p.L167L|CNTNAP4_uc002fex.1_Silent_p.L195L|CNTNAP4_uc002few.2_Silent_p.L167L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	192	Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						AAAGTTCCCTTCTCTACAGAT	0.343													C	76481946	T	C	76481946	2	2	19	1	0	0	0	0	0	0	0	1	3649	1770	62	3		3	CNTNAP4	16	76481946	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1341559	76481946	13872807	2564	16863											
CNTNAP4	85445	broad.mit.edu	37	chr16	76573730	76573730	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cataatgattaacagagaagAaggagtggtctttatagagg	12	3	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:76573730A>C	uc002feu.1	+	22	3720	c.3335A>C	c.(3334-3336)GAA>GCA	p.E1112A	CNTNAP4_uc002fev.1_Missense_Mutation_p.E976A|CNTNAP4_uc010chb.1_Missense_Mutation_p.E1039A|CNTNAP4_uc002fex.1_Missense_Mutation_p.E1115A	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	1112	Extracellular (Potential).|Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						AACAGAGAAGAAGGAGTGGTC	0.333													C	76573730	A	C	76573730	3	2	19	1	0	0	0	0	1	0	0	0	3649	246	9	5	3426	5	CNTNAP4	16	76573730	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	91784	76573730	13781023	2565	16864											
MAF	4094	broad.mit.edu	37	chr16	79632969	79632969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttgctgaccccgcgcagCtgccggttcagctcgcgcac	11	18	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:79632969C>T	uc002ffn.2	-	1	1654	c.831G>A	c.(829-831)CAG>CAA	p.Q277Q	MAF_uc002ffm.2_Silent_p.Q277Q	NM_001031804	NP_001026974	O75444	MAF_HUMAN	v-maf musculoaponeurotic fibrosarcoma oncogene	277	Represses ARE-mediated transcription.				transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		CCCCGCGCAGCTGCCGGTTCA	0.672			T	IGH@	MM								T	79632969	C	T	79632969	2	4	19	1	0	0	0	0	0	0	0	1	9155	796	28	2		2	MAF	16	79632969	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3059239	79632969	10721784	2566	16865											
MAF	4094	broad.mit.edu	37	chr16	79633642	79633642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggtggaggacagcgagCccccggcgatgagacggccg	20	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:79633642C>T	uc002ffn.2	-	1	981	c.158G>A	c.(157-159)GGC>GAC	p.G53D	MAF_uc002ffm.2_Missense_Mutation_p.G53D	NM_001031804	NP_001026974	O75444	MAF_HUMAN	v-maf musculoaponeurotic fibrosarcoma oncogene	53					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GGACAGCGAGCCCCCGGCGAT	0.632			T	IGH@	MM								T	79633642	C	T	79633642	3	4	19	1	0	0	0	0	1	0	0	0	9155	739	26	2	1065	2	MAF	16	79633642	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	673	79633642	10721111	2567	16866											
ATMIN	23300	broad.mit.edu	37	chr16	81078385	81078385	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaagcaaagttcagttgaAcagtacagaaacacagacca	8	8	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:81078385A>G	uc002ffz.1	+	4	2300	c.2282A>G	c.(2281-2283)AAC>AGC	p.N761S	ATMIN_uc002fga.2_Missense_Mutation_p.N603S|ATMIN_uc010vnn.1_Missense_Mutation_p.N532S|ATMIN_uc002fgb.1_Missense_Mutation_p.N603S	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	761					response to DNA damage stimulus	nucleus	zinc ion binding				0						GTTCAGTTGAACAGTACAGAA	0.443													G	81078385	A	G	81078385	3	3	19	1	0	0	0	0	1	0	0	0	1110	43	2	3	2296	3	ATMIN	16	81078385	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1444743	81078385	9276368	2568	16867											
PKD1L2	114780	broad.mit.edu	37	chr16	81190510	81190510	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgcccagatcaccaccAgcacgtagaccacacacagg	7	18	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:81190510A>G	uc002fgh.1	-	24	4079	c.4079T>C	c.(4078-4080)CTG>CCG	p.L1360P	PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1360	Helical; (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GATCACCACCAGCACGTAGAC	0.577													G	81190510	A	G	81190510	3	3	19	1	0	0	0	0	1	0	0	0	11965	188	7	3	3379	3	PKD1L2	16	81190510	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	112125	81190510	9164243	2569	16868											
PKD1L2	114780	broad.mit.edu	37	chr16	81209311	81209311	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctccaagtggcagatAcactgatgggagggcaggtt	13	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:81209311A>G	uc002fgh.1	-	15	2482	c.2482T>C	c.(2482-2484)TAT>CAT	p.Y828H	PKD1L2_uc002fgg.1_RNA|PKD1L2_uc002fgi.2_Missense_Mutation_p.Y143H|PKD1L2_uc002fgj.2_Missense_Mutation_p.Y828H|PKD1L2_uc002fgk.1_5'UTR|PKD1L2_uc002fgl.1_Missense_Mutation_p.Y84H	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	828	REJ.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AGTGGCAGATACACTGATGGG	0.547													G	81209311	A	G	81209311	3	3	19	1	0	0	0	0	1	0	0	0	11965	391	14	3	5082	3	PKD1L2	16	81209311	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	18801	81209311	9145442	2570	16869											
BCMO1	53630	broad.mit.edu	37	chr16	81293316	81293316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagcaaatacctgagaagcGatacctacaacaccaatatt	7	10	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:81293316G>A	uc002fgn.1	+	3	447	c.229G>A	c.(229-231)GAT>AAT	p.D77N	BCMO1_uc002fgm.1_Missense_Mutation_p.D77N|BCMO1_uc010vnp.1_Intron	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase	77					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity				0						CCTGAGAAGCGATACCTACAA	0.438													A	81293316	G	A	81293316	3	1	19	1	0	0	0	0	1	0	0	0	1384	1058	37	1	239	1	BCMO1	16	81293316	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	84005	81293316	9061437	2571	16870											
TAF1C	9013	broad.mit.edu	37	chr16	84218572	84218572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtcagaaacaatgcagggCggagggagctggggaagtcc	18	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:84218572C>T	uc002fhn.2	-	2	251	c.23G>A	c.(22-24)CGC>CAC	p.R8H	TAF1C_uc002fhm.2_Intron|TAF1C_uc010vnx.1_Missense_Mutation_p.R8H|TAF1C_uc010vny.1_Intron|TAF1C_uc010vnz.1_Intron|TAF1C_uc002fho.2_Intron|TAF1C_uc010voa.1_Intron|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Missense_Mutation_p.R8H	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	8					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			ovary(1)	1						CAATGCAGGGCGGAGGGAGCT	0.617													T	84218572	C	T	84218572	3	4	19	1	0	0	0	0	1	0	0	0	15518	768	27	1	2638	1	TAF1C	16	84218572	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2925256	84218572	6136181	2572	16871											
ADAD2	161931	broad.mit.edu	37	chr16	84224941	84224941	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcccctggcgaccgctAcccgcccaggcccaaagtgc	10	22	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:84224941A>G	uc002fhr.2	+	1	219	c.105A>G	c.(103-105)CTA>CTG	p.L35L	ADAD2_uc002fhq.2_Silent_p.L35L	NM_001145400	NP_001138872	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2 isoform	35					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding				0						GGCGACCGCTACCCGCCCAGG	0.622													G	84224941	A	G	84224941	2	3	19	1	0	0	0	0	0	0	0	1	232	378	14	3		3	ADAD2	16	84224941	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	6369	84224941	6129812	2573	16872											
KLHL36	79786	broad.mit.edu	37	chr16	84695605	84695605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtgtacgaccgcgaggccGacaagtggagcaggggcgtc	18	10	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:84695605G>A	uc002fig.2	+	5	1858	c.1717G>A	c.(1717-1719)GAC>AAC	p.D573N	KLHL36_uc010chl.2_Missense_Mutation_p.D509N|uc002fih.2_5'Flank	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	kelch-like 36	573	Kelch 6.									skin(2)	2						CCGCGAGGCCGACAAGTGGAG	0.662													A	84695605	G	A	84695605	3	1	19	1	0	0	0	0	1	0	0	0	8389	1058	37	1	1731	1	KLHL36	16	84695605	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	470664	84695605	5659148	2574	16873											
USP10	9100	broad.mit.edu	37	chr16	84778357	84778357	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccctcaggcccctgaattTattctcggttgtacagcttc	7	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:84778357T>C	uc002fii.2	+	4	412	c.270T>C	c.(268-270)TTT>TTC	p.F90F	USP10_uc010voe.1_Silent_p.F94F|USP10_uc010vof.1_Intron|USP10_uc002fij.2_5'UTR	NM_005153	NP_005144	Q14694	UBP10_HUMAN	ubiquitin specific protease 10	90	Interaction with p53/TP53.				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						CCCCTGAATTTATTCTCGGTT	0.493													C	84778357	T	C	84778357	2	2	19	1	0	0	0	0	0	0	0	1	17038	1751	61	3		3	USP10	16	84778357	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	82752	84778357	5576396	2575	16874											
KIAA0182	23199	broad.mit.edu	37	chr16	85696670	85696670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgttgcgtggccgagcagCcgcccctcaaactggacacg	12	16	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:85696670C>T	uc002fix.2	+	10	2418	c.2344C>T	c.(2344-2346)CCG>TCG	p.P782S	KIAA0182_uc002fiw.2_Missense_Mutation_p.P678S|KIAA0182_uc002fiy.2_Missense_Mutation_p.P709S|KIAA0182_uc002fiz.2_5'UTR|KIAA0182_uc010cho.2_5'Flank	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	782							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						GGCCGAGCAGCCGCCCCTCAA	0.612													T	85696670	C	T	85696670	3	4	19	1	0	0	0	0	1	0	0	0	8159	739	26	2	2382	2	KIAA0182	16	85696670	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	918313	85696670	4658083	2576	16875											
KIAA0182	23199	broad.mit.edu	37	chr16	85701751	85701751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcccctccacagggagcGtggctgtgctgtctgcagag	14	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:85701751G>A	uc002fix.2	+	14	3210	c.3136G>A	c.(3136-3138)GTG>ATG	p.V1046M	KIAA0182_uc002fiw.2_Missense_Mutation_p.V942M|KIAA0182_uc002fiy.2_Missense_Mutation_p.V973M|KIAA0182_uc002fiz.2_Missense_Mutation_p.V188M|KIAA0182_uc010cho.2_Missense_Mutation_p.V226M	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	1046							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						CACAGGGAGCGTGGCTGTGCT	0.617													A	85701751	G	A	85701751	3	1	19	1	0	0	0	0	1	0	0	0	8159	1145	40	1	3190	1	KIAA0182	16	85701751	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	5081	85701751	4653002	2577	16876											
C16orf74	404550	broad.mit.edu	37	chr16	85743813	85743813	+	Frame_Shift_Del	DEL	G	G	-													agcatcatgcccgtgggggtGgggggcgtgatgatgatgtc					rs112376688		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:85743813delG	uc002fjc.3	-	3	305	c.129delC	c.(127-129)CCCfs	p.P43fs		NM_206967	NP_996850	Q96GX8	CP074_HUMAN	MGC17624 protein	43											0						CCGTGGGGGTGGGGGGCGTGA	0.672													-	85743813	G	-	85743813	7	5	19	1	0	1	0	1	0	0	0	0	1833	1335	47	0	109	0	C16orf74	16	85743813	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	42062	85743813	4610940	2578	16877											
FOXL1	2300	broad.mit.edu	37	chr16	86612389	86612389	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgcccatgctgtatctGtacggtcccgagagacccgg	12	15	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:86612389G>A	uc002fjr.2	+	1	275	c.60G>A	c.(58-60)CTG>CTA	p.L20L		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	forkhead box L1	20					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1						TGCTGTATCTGTACGGTCCCG	0.706													A	86612389	G	A	86612389	2	1	19	1	0	0	0	0	0	0	0	1	6016	1364	48	4		4	FOXL1	16	86612389	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	868576	86612389	3742364	2579	16878											
JPH3	57338	broad.mit.edu	37	chr16	87723329	87723329	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccgggacacccctgcagCaggagagccccgagctgtac	12	17	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:87723329C>T	uc002fkd.2	+	4	1617	c.1363C>T	c.(1363-1365)CAG>TAG	p.Q455*	JPH3_uc010vou.1_RNA	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	455	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)		ACCCCTGCAGCAGGAGAGCCC	0.607													T	87723329	C	T	87723329	4	4	19	1	0	0	0	0	0	1	0	0	7962	711	25	2	1377	2	JPH3	16	87723329	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1110940	87723329	2631424	2580	16879											
BANP	54971	broad.mit.edu	37	chr16	88066729	88066729	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacagagccgatgatgagcAccccacctcctgccagcgag	10	17	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:88066729A>G	uc002fkr.2	+	9	1275	c.1051A>G	c.(1051-1053)ACC>GCC	p.T351A	BANP_uc002fkp.2_Missense_Mutation_p.T321A|BANP_uc002fkq.2_Missense_Mutation_p.T321A|BANP_uc010vow.1_Missense_Mutation_p.T359A|BANP_uc002fks.3_Missense_Mutation_p.T320A|BANP_uc002fko.1_Missense_Mutation_p.T257A|BANP_uc010vov.1_Missense_Mutation_p.T326A	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein isoform b	352	DNA-binding (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GATGATGAGCACCCCACCTCC	0.652													G	88066729	A	G	88066729	3	3	19	1	0	0	0	0	1	0	0	0	1310	159	6	3	1126	3	BANP	16	88066729	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	343400	88066729	2288024	2581	16880											
ZNF778	197320	broad.mit.edu	37	chr16	89293827	89293827	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaaagcctgcggtgggttTtatctactgaatgagcatgg	15	6	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:89293827T>C	uc002fmv.2	+	6	1386	c.1047T>C	c.(1045-1047)TTT>TTC	p.F349F	ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Silent_p.F307F|ZNF778_uc010vpg.1_Silent_p.F112F	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	349	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GCGGTGGGTTTTATCTACTGA	0.448													C	89293827	T	C	89293827	2	2	19	1	0	0	0	0	0	0	0	1	18148	1838	64	3		3	ZNF778	16	89293827	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1227098	89293827	1060926	2582	16881											
ANKRD11	29123	broad.mit.edu	37	chr16	89347285	89347285	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgggggaaggggaaggttTtgcttgtaaacttgagaaga	16	3	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:89347285T>C	uc002fmx.1	-	9	6126	c.5665A>G	c.(5665-5667)AAA>GAA	p.K1889E	ANKRD11_uc002fmy.1_Missense_Mutation_p.K1889E|ANKRD11_uc002fnc.1_Missense_Mutation_p.K1889E|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.K1846E	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1889	Pro-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGGGAAGGTTTTGCTTGTAAA	0.652													C	89347285	T	C	89347285	3	2	19	1	0	0	0	0	1	0	0	0	639	1850	64	3	2346	3	ANKRD11	16	89347285	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	53458	89347285	1007468	2583	16882											
FANCA	2175	broad.mit.edu	37	chr16	89809286	89809286	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaatcgcaaagtgcagTgcagcagctgagagccagtc	13	9	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:89809286T>C	uc002fou.1	-	37	3729	c.3687A>G	c.(3685-3687)GCA>GCG	p.A1229A	FANCA_uc010vpn.1_Silent_p.A1229A|FANCA_uc010vpo.1_Silent_p.A315A	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	1229					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CAAAGTGCAGTGCAGCAGCTG	0.537			D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				C	89809286	T	C	89809286	2	2	19	1	0	0	0	0	0	0	0	1	5662	1683	59	3		3	FANCA	16	89809286	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	462001	89809286	545467	2584	16883											
CENPBD1	92806	broad.mit.edu	37	chr16	90038141	90038141	+	Frame_Shift_Del	DEL	T	T	-													tatttgtgaactcgctttgaTtttttctttactatctcgaa							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:90038141delT	uc002fpr.2	-	1	802	c.190delA	c.(190-192)ATCfs	p.I64fs	AFG3L1_uc002fps.1_5'Flank|AFG3L1_uc002fpt.1_5'Flank|AFG3L1_uc002fpu.1_5'Flank|AFG3L1_uc002fpv.1_5'Flank|AFG3L1_uc002fpw.1_5'Flank|AFG3L1_uc002fpx.1_5'Flank	NM_145039	NP_659476	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	64	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						CTCGCTTTGATTTTTTCTTTA	0.488													-	90038141	T	-	90038141	7	5	19	1	0	1	0	1	0	0	0	0	3228	1493	52	0	377	0	CENPBD1	16	90038141	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	228855	90038141	316612	2585	16884											
GEMIN4	50628	broad.mit.edu	37	chr17	650110	650110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgttcttcagcaccgtGctcgttttcctcaggaagtc	9	14	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:650110G>A	uc002frs.1	-	2	1292	c.1173C>T	c.(1171-1173)AGC>AGT	p.S391S	GEMIN4_uc010vqa.1_3'UTR	NM_015721	NP_056536	P57678	GEMI4_HUMAN	gemin 4	391					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			ovary(2)|kidney(1)|skin(1)	4		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCAGCACCGTGCTCGTTTTCC	0.567													A	650110	G	A	650110	2	1	19	1	0	0	0	0	0	0	0	1	6330	1310	46	2		2	GEMIN4	17	650110	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08		650110	80545100	2586	16885											
MYO1C	4641	broad.mit.edu	37	chr17	1386228	1386228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggggctgggcaggtctctGcatagaactgcagcagcctc	15	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:1386228G>A	uc002fsp.2	-	4	693	c.473C>T	c.(472-474)GCA>GTA	p.A158V	MYO1C_uc002fsn.2_Missense_Mutation_p.A139V|MYO1C_uc002fso.2_Missense_Mutation_p.A123V|MYO1C_uc010vqj.1_Missense_Mutation_p.A123V|MYO1C_uc010vqk.1_Missense_Mutation_p.A134V	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	158	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCAGGTCTCTGCATAGAACTG	0.682													A	1386228	G	A	1386228	3	1	19	1	0	0	0	0	1	0	0	0	10070	1319	46	2	2834	2	MYO1C	17	1386228	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	736118	1386228	79808982	2587	16886											
SERPINF2	5345	broad.mit.edu	37	chr17	1650779	1650779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccggaagacaccgtgttgCttctcctcaacgccatccac	8	16	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:1650779C>T	uc002ftk.1	+	7	765	c.688C>T	c.(688-690)CTT>TTT	p.L230F	SERPINF2_uc010vqr.1_Missense_Mutation_p.L166F	NM_000934	NP_000925	P08697	A2AP_HUMAN	alpha-2-antiplasmin isoform a precursor	230					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	CACCGTGTTGCTTCTCCTCAA	0.557													T	1650779	C	T	1650779	3	4	19	1	0	0	0	0	1	0	0	0	14115	797	28	2	720	2	SERPINF2	17	1650779	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	264551	1650779	79544431	2588	16887											
METT10D	79066	broad.mit.edu	37	chr17	2324091	2324091	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgccttccgccgtctccgaGcgcagaggtgatgctttgag	13	12	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:2324091G>C	uc002fut.2	-	9	1144	c.996C>G	c.(994-996)CGC>CGG	p.R332R	METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Intron|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_Silent_p.R114R	NM_024086	NP_076991	Q86W50	MET16_HUMAN	methyltransferase 10 domain containing	332							methyltransferase activity				0						CCGTCTCCGAGCGCAGAGGTG	0.448													C	2324091	G	C	2324091	2	2	19	1	0	0	0	0	0	0	0	1	9490	958	34	5		5	METT10D	17	2324091	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	673312	2324091	78871119	2589	16888											
KIAA0664	23277	broad.mit.edu	37	chr17	2595724	2595724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcgcgttctccaggaagCgcagcgacaggtcgtactcc	12	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:2595724C>T	uc002fuy.1	-	22	3460	c.3374G>A	c.(3373-3375)CGC>CAC	p.R1125H	KIAA0664_uc002fux.1_Missense_Mutation_p.R1058H|KIAA0664_uc010ckc.1_Missense_Mutation_p.R111H	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	1125	TPR 3.						binding			breast(2)	2						CTCCAGGAAGCGCAGCGACAG	0.697													T	2595724	C	T	2595724	3	4	19	1	0	0	0	0	1	0	0	0	8189	768	27	1	575	1	KIAA0664	17	2595724	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	271633	2595724	78599486	2590	16889											
KIAA0664	23277	broad.mit.edu	37	chr17	2606624	2606624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccaaccttccaccacacGcagcacagagccctcctgca	6	19	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:2606624G>A	uc002fuy.1	-	3	435	c.349C>T	c.(349-351)CGT>TGT	p.R117C	KIAA0664_uc002fux.1_Missense_Mutation_p.R49C	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	117							binding			breast(2)	2						TCCACCACACGCAGCACAGAG	0.657													A	2606624	G	A	2606624	3	1	19	1	0	0	0	0	1	0	0	0	8189	1087	38	1	3676	1	KIAA0664	17	2606624	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	10900	2606624	78588586	2591	16890											
P2RX5	5026	broad.mit.edu	37	chr17	3594321	3594321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaaaaagacgttctctcCctaaggaaccagagaggcac	8	12	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:3594321C>T	uc002fwi.2	-	3	573	c.289G>A	c.(289-291)GGA>AGA	p.G97R	P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Missense_Mutation_p.G97R|P2RX5_uc010vrx.1_Intron|P2RX5_uc002fwj.2_Intron|P2RX5_uc002fwk.2_Missense_Mutation_p.G97R|P2RX5_uc002fwl.2_Intron|P2RX5_uc002fwm.1_Missense_Mutation_p.G97R	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	purinergic receptor P2X5 isoform A	97	Extracellular (Potential).			GE -> EK (in Ref. 1; AAB08576).	nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						ACGTTCTCTCCCTAAGGAACC	0.592													T	3594321	C	T	3594321	3	4	19	1	0	0	0	0	1	0	0	0	11343	637	22	4	1023	4	P2RX5	17	3594321	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	987697	3594321	77600889	2592	16891											
C17orf85	55421	broad.mit.edu	37	chr17	3721814	3721814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctcttcctcttcctcCtcctcctcctcttcctcctc	0	23	4	0	rs143045118		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:3721814C>T	uc010ckl.1	-	10	1076	c.1053G>A	c.(1051-1053)GAG>GAA	p.E351E	C17orf85_uc002fwr.2_Silent_p.E61E|C17orf85_uc002fwq.2_Silent_p.E71E	NM_001114118	NP_001107590	Q53F19	CQ085_HUMAN	ELG protein isoform a	351	Glu-rich.						nucleotide binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		cctcttcctcctcctcctcct	0.368													T	3721814	C	T	3721814	2	4	19	1	0	0	0	0	0	0	0	1	1888	680	24	4		4	C17orf85	17	3721814	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	127493	3721814	77473396	2593	16892											
CAMKK1	84254	broad.mit.edu	37	chr17	3776731	3776731	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacaaagcagtacaacgtgAcgccagtggcccatacatcc	9	13	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:3776731A>G	uc002fwt.2	-	11	1116	c.1022T>C	c.(1021-1023)GTC>GCC	p.V341A	CAMKK1_uc002fwu.2_Missense_Mutation_p.V341A|CAMKK1_uc002fwv.2_Missense_Mutation_p.V379A	NM_172206	NP_757343	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase 1	341	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GTACAACGTGACGCCAGTGGC	0.627													G	3776731	A	G	3776731	3	3	19	1	0	0	0	0	1	0	0	0	2606	275	10	3	523	3	CAMKK1	17	3776731	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	54917	3776731	77418479	2594	16893											
ATP2A3	489	broad.mit.edu	37	chr17	3844275	3844275	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggcctcaccatagcagtgAtctcgttaaaggactgcagg	12	10	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:3844275A>G	uc002fxb.1	-	14	2241	c.2090T>C	c.(2089-2091)ATC>ACC	p.I697T	ATP2A3_uc002fwx.1_Missense_Mutation_p.I697T|ATP2A3_uc002fwy.1_Missense_Mutation_p.I697T|ATP2A3_uc002fwz.1_Missense_Mutation_p.I697T|ATP2A3_uc002fxa.1_Missense_Mutation_p.I697T|ATP2A3_uc002fxc.1_Missense_Mutation_p.I697T|ATP2A3_uc002fxd.1_Missense_Mutation_p.I697T	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	697	Cytoplasmic (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CATAGCAGTGATCTCGTTAAA	0.657													G	3844275	A	G	3844275	3	3	19	1	0	0	0	0	1	0	0	0	1138	333	12	3	1152	3	ATP2A3	17	3844275	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	67544	3844275	77350935	2595	16894											
ANKFY1	51479	broad.mit.edu	37	chr17	4080582	4080582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccacatgaaggaaattccGgcccttgttatccacctaca	7	13	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:4080582G>A	uc002fxq.1	-	19	2652	c.2614C>T	c.(2614-2616)CGG>TGG	p.R872W	ANKFY1_uc002fxn.2_Missense_Mutation_p.R914W|ANKFY1_uc002fxo.2_Missense_Mutation_p.R873W|ANKFY1_uc002fxp.2_Missense_Mutation_p.R871W|ANKFY1_uc010ckp.2_Missense_Mutation_p.R814W	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	872	ANK 16.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						AGGAAATTCCGGCCCTTGTTA	0.458													A	4080582	G	A	4080582	3	1	19	1	0	0	0	0	1	0	0	0	626	1115	39	1	923	1	ANKFY1	17	4080582	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	236307	4080582	77114628	2596	16895											
MYBBP1A	10514	broad.mit.edu	37	chr17	4448930	4448930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattagctgcagggcacgcGgggtcaggtgggagcagatg	19	7	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:4448930G>A	uc002fyb.3	-	15	2110	c.2048C>T	c.(2047-2049)CCG>CTG	p.P683L	MYBBP1A_uc002fxz.3_Missense_Mutation_p.P683L|MYBBP1A_uc010vsa.1_5'Flank	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	683					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						CAGGGCACGCGGGGTCAGGTG	0.647													A	4448930	G	A	4448930	3	1	19	1	0	0	0	0	1	0	0	0	10008	1116	39	1	2026	1	MYBBP1A	17	4448930	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	368348	4448930	76746280	2597	16896											
GGT6	124975	broad.mit.edu	37	chr17	4461471	4461472	+	Frame_Shift_Ins	INS	-	-	T													tgggcctgggtagggggcctINStgctgccagatgcctgagta							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:4461470_4461471C>CT	uc010vsc.2	-	3	1399_1400	c.1339_1340G>AG	c.(1339-1341)aggfs	p.R447fs	MYBBP1A_uc002fxz.4_5'Flank|MYBBP1A_uc002fyb.4_5'Flank|GGT6_uc010vsb.2_Frame_Shift_Ins_p.R293fs|GGT6_uc002fyd.4_Frame_Shift_Ins_p.R441fs|GGT6_uc002fyc.4_Frame_Shift_Ins_p.R409fs	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	Homo sapiens gamma-glutamyltransferase 6 (GGT6), transcript variant 1, mRNA.	441					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GGTAGGGGGCCTTGCTGCCAGA	0.624													T	4461472	-	T	4461471	7	5	19	1	0	1	1	0	0	0	0	0	6363	1608	56	0	164	0	GGT6	17	4461471	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	12541	4461471	76733739	2598	16897											
CXCL16	58191	broad.mit.edu	37	chr17	4638556	4638556	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctggttctccccagcctcAggcccagctgccagactgtg	10	16	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:4638556A>G	uc002fyr.3	-	4	1138	c.606T>C	c.(604-606)CCT>CCC	p.P202P	CXCL16_uc002fyq.3_Silent_p.P44P|CXCL16_uc002fys.3_Silent_p.P202P	NM_022059	NP_071342	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	183	Extracellular (Potential).				lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity				0						CCCCAGCCTCAGGCCCAGCTG	0.592													G	4638556	A	G	4638556	2	3	19	1	0	0	0	0	0	0	0	1	4083	175	7	3		3	CXCL16	17	4638556	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	177085	4638556	76556654	2599	16898											
CXCL16	58191	broad.mit.edu	37	chr17	4638666	4638666	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagggtggggcgctgagtggActgcaaggtggacaggagca	21	6	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:4638666A>G	uc002fyr.3	-	4	1028	c.496T>C	c.(496-498)TCC>CCC	p.S166P	CXCL16_uc002fyq.3_Missense_Mutation_p.S8P|CXCL16_uc002fys.3_Missense_Mutation_p.S166P	NM_022059	NP_071342	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	147	Extracellular (Potential).				lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity				0						CGCTGAGTGGACTGCAAGGTG	0.577													G	4638666	A	G	4638666	3	3	19	1	0	0	0	0	1	0	0	0	4083	275	10	3	333	3	CXCL16	17	4638666	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	110	4638666	76556544	2600	16899											
PLD2	5338	broad.mit.edu	37	chr17	4712400	4712400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcctttccacagatttgCcgttgcctattctccagccc	5	17	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:4712400C>T	uc002fzc.2	+	5	490	c.389C>T	c.(388-390)GCC>GTC	p.A130V	PLD2_uc010vsj.1_5'UTR|PLD2_uc002fzd.2_Missense_Mutation_p.A130V	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	130	PX.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)	CACAGATTTGCCGTTGCCTAT	0.567													T	4712400	C	T	4712400	3	4	19	1	0	0	0	0	1	0	0	0	12046	739	26	2	403	2	PLD2	17	4712400	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	73734	4712400	76482810	2601	16900											
CHRNE	1145	broad.mit.edu	37	chr17	4802167	4802167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaagggcattccccatgCgcacccagtcggacacttcc	9	16	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:4802167C>T	uc002fzk.1	-	12	1357	c.1346G>A	c.(1345-1347)CGC>CAC	p.R449H	C17orf107_uc010ckr.2_5'Flank|C17orf107_uc002fzl.3_5'Flank	NM_000080	NP_000071	Q04844	ACHE_HUMAN	nicotinic acetylcholine receptor epsilon	449	Cytoplasmic (Potential).				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						ATTCCCCATGCGCACCCAGTC	0.627													T	4802167	C	T	4802167	3	4	19	1	0	0	0	0	1	0	0	0	3395	768	27	1	139	1	CHRNE	17	4802167	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	89767	4802167	76393043	2602	16901											
SPAG7	9552	broad.mit.edu	37	chr17	4863086	4863086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttattggcctgtagcatGtgggctgcgtctttggctgc	14	9	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:4863086G>A	uc002gae.2	-	6	576	c.543C>T	c.(541-543)CAC>CAT	p.H181H	SPAG7_uc002gad.2_Silent_p.H130H|SPAG7_uc002gaf.2_Silent_p.H181H	NM_004890	NP_004881	O75391	SPAG7_HUMAN	sperm associated antigen 7	181						nucleus	nucleic acid binding|protein binding			ovary(1)|central_nervous_system(1)	2						CCTGTAGCATGTGGGCTGCGT	0.642													A	4863086	G	A	4863086	2	1	19	1	0	0	0	0	0	0	0	1	14983	1368	48	4		4	SPAG7	17	4863086	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	60919	4863086	76332124	2603	16902											
CAMTA2	23125	broad.mit.edu	37	chr17	4873216	4873216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgtactttcggaaggccGtctggatgactcgggcagcc	13	12	1	1	rs150374823		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:4873216G>A	uc002gah.1	-	18	3278	c.3170C>T	c.(3169-3171)ACG>ATG	p.T1057M	SPAG7_uc002gad.2_5'Flank|SPAG7_uc002gae.2_5'Flank|SPAG7_uc002gaf.2_5'Flank|CAMTA2_uc010cku.1_Missense_Mutation_p.T1080M|CAMTA2_uc002gag.1_Missense_Mutation_p.T1056M|CAMTA2_uc002gai.1_Missense_Mutation_p.T1059M	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	1057	IQ 1.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						TCGGAAGGCCGTCTGGATGAC	0.547													A	4873216	G	A	4873216	3	1	19	1	0	0	0	0	1	0	0	0	2614	1145	40	1	512	1	CAMTA2	17	4873216	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	10130	4873216	76321994	2604	16903											
USP6	9098	broad.mit.edu	37	chr17	5049390	5049391	+	Frame_Shift_Ins	INS	-	-	A													gatgaaaagtacacaggtttINSaaaaaaacagctgagggatc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:5049390_5049391insA	uc002gau.1	+	28	4470_4471	c.2240_2241insA	c.(2239-2241)TTAfs	p.L747fs	USP6_uc002gav.1_Frame_Shift_Ins_p.L747fs|USP6_uc010ckz.1_Frame_Shift_Ins_p.L430fs	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	747					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						TACACAGGTTTAAAAAAACAGC	0.351			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								A	5049391	-	A	5049390	7	5	19	1	0	1	1	0	0	0	0	0	17083	1764	61	0	2314	0	USP6	17	5049390	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	176174	5049390	76145820	2605	16904	57	2									
USP6	9098	broad.mit.edu	37	chr17	5049391	5049392	+	Frame_Shift_Ins	INS	-	-	A													atgaaaagtacacaggtttaINSaaaaaacagctgagggatct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:5049390_5049391T>TA	uc002gau.1	+	27	4470_4471	c.2240_2241T>TA	c.(2239-2241)ttafs	p.L747fs	USP6_uc002gav.1_Frame_Shift_Ins_p.L747fs|USP6_uc010ckz.1_Frame_Shift_Ins_p.L430fs	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	747					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TACACAGGTTTAAAAAAACAGC	0.351			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								A	5049392	-	A	5049391	7	5	19	1	0	1	1	0	0	0	0	0	17083	359	13	0	2315	0	USP6	17	5049391	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	1	5049391	76145819	2606	16905	57	2									
PITPNM3	83394	broad.mit.edu	37	chr17	6387608	6387608	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaggaaacccggtacagTtctcctgcagagggaaagag	12	10	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:6387608T>C	uc002gdd.3	-	5	430	c.279A>G	c.(277-279)GAA>GAG	p.E93E	PITPNM3_uc010cln.2_Silent_p.E57E|PITPNM3_uc002gdc.3_5'Flank	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	93					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CCCGGTACAGTTCTCCTGCAG	0.602													C	6387608	T	C	6387608	2	2	19	1	0	0	0	0	0	0	0	1	11952	1722	60	3		3	PITPNM3	17	6387608	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1338217	6387608	74807602	2607	16906											
SLC13A5	284111	broad.mit.edu	37	chr17	6604366	6604366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccacagccaggcgaacaGcagcatcaccagcatgttgg	12	13	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:6604366G>A	uc002gdj.2	-	6	884	c.796C>T	c.(796-798)CTG>TTG	p.L266L	SLC13A5_uc010vtf.1_Silent_p.L266L|SLC13A5_uc010clq.2_Silent_p.L223L|SLC13A5_uc002gdk.2_Silent_p.L249L|SLC13A5_uc002gdl.1_Silent_p.L248L	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	solute carrier family 13, member 5 isoform a	266	Helical; (Potential).					integral to membrane	citrate transmembrane transporter activity				0						CAGGCGAACAGCAGCATCACC	0.483													A	6604366	G	A	6604366	2	1	19	1	0	0	0	0	0	0	0	1	14395	962	34	2		2	SLC13A5	17	6604366	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	216758	6604366	74590844	2608	16907											
PHF23	79142	broad.mit.edu	37	chr17	7139443	7139443	+	Frame_Shift_Del	DEL	C	C	-													gcacagggactggggcttcaCcccctaccactgttgccatc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:7139443delC	uc002gfa.2	-	4	1030	c.803delG	c.(802-804)GGTfs	p.G268fs	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Frame_Shift_Del_p.G201fs|PHF23_uc010cma.2_Frame_Shift_Del_p.G138fs	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	268							zinc ion binding				0						TGGGGCTTCACCCCCTACCAC	0.507													-	7139443	C	-	7139443	7	5	19	1	0	1	0	1	0	0	0	0	11835	507	18	0	416	0	PHF23	17	7139443	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	535077	7139443	74055767	2609	16908											
EIF5A	1984	broad.mit.edu	37	chr17	7214674	7214674	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctatctgcccccagctgatTggcatccaggatgggtacct	10	14	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:7214674T>C	uc010vtv.1	+	4	513	c.276T>C	c.(274-276)ATT>ATC	p.I92I	EIF5A_uc002gfr.2_Silent_p.I122I|EIF5A_uc002gft.2_Silent_p.I92I|EIF5A_uc002gfu.2_Silent_p.I92I	NM_001970	NP_001961	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	92					induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding				0						CCCAGCTGATTGGCATCCAGG	0.552													C	7214674	T	C	7214674	2	2	19	1	0	0	0	0	0	0	0	1	5041	1800	63	3		3	EIF5A	17	7214674	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	75231	7214674	73980536	2610	16909											
KCTD11	147040	broad.mit.edu	37	chr17	7256323	7256323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacctcaattcccaaggagGcggccactacttcatcgacc	7	16	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:7256323G>A	uc002gge.3	+	1	1116	c.62G>A	c.(61-63)GGC>GAC	p.G21D	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	potassium channel tetramerisation domain	21	BTB.				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Prostate(122;0.157)				TCCCAAGGAGGCGGCCACTAC	0.632													A	7256323	G	A	7256323	3	1	19	1	0	0	0	0	1	0	0	0	8098	1203	42	2	64	2	KCTD11	17	7256323	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	41649	7256323	73938887	2611	16910											
NLGN2	57555	broad.mit.edu	37	chr17	7318418	7318418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagctgtggagtgtctgCgccggaagccctcccgggag	16	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:7318418C>T	uc002ggt.1	+	5	1061	c.988C>T	c.(988-990)CGC>TGC	p.R330C		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2 precursor	330	Extracellular (Potential).				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)	1		Prostate(122;0.157)				GGAGTGTCTGCGCCGGAAGCC	0.657													T	7318418	C	T	7318418	3	4	19	1	0	0	0	0	1	0	0	0	10462	768	27	1	1006	1	NLGN2	17	7318418	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	62095	7318418	73876792	2612	16911											
ZBTB4	57659	broad.mit.edu	37	chr17	7365936	7365936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcccccgggccgctcagCagcatgcctctgcccgtggc	14	18	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:7365936C>T	uc002ghc.3	-	4	2615	c.2365G>A	c.(2365-2367)GCT>ACT	p.A789T	ZBTB4_uc002ghd.3_Missense_Mutation_p.A789T	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	789					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GGCCGCTCAGCAGCATGCCTC	0.697													T	7365936	C	T	7365936	3	4	19	1	0	0	0	0	1	0	0	0	17538	710	25	2	680	2	ZBTB4	17	7365936	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	47518	7365936	73829274	2613	16912											
AMAC1L3	643664	broad.mit.edu	37	chr17	7385573	7385573	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctgctacttaaactgcgTggcgacccccttctgggacc	10	16	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:7385573T>C	uc010cmj.1	+	2	385	c.270T>C	c.(268-270)CGT>CGC	p.R90R	ZBTB4_uc002ghc.3_5'Flank|ZBTB4_uc002ghd.3_Intron|POLR2A_uc002ghe.2_5'Flank|POLR2A_uc002ghf.3_5'Flank	NM_001102614	NP_001096084	P0C7Q6	AMCL3_HUMAN	acyl-malonyl condensing enzyme 1-like 3	90	DUF6 1.					integral to membrane					0		Prostate(122;0.173)				TTAAACTGCGTGGCGACCCCC	0.577													C	7385573	T	C	7385573	2	2	19	1	0	0	0	0	0	0	0	1	561	1683	59	3		3	AMAC1L3	17	7385573	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	19637	7385573	73809637	2614	16913											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:7577120C>T	uc002gim.2	-	8	1012	c.818G>A	c.(817-819)CGT>CAT	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577120	C	T	7577120	3	4	19	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	191547	7577120	73618090	2615	16914											
TP53	7157	broad.mit.edu	37	chr17	7578427	7578427	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctcacaacctccgtcatgTgctgtgactgcttgtagatg	10	12	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:7578427T>C	uc002gim.2	-	5	697	c.503A>G	c.(502-504)CAC>CGC	p.H168R	TP53_uc002gig.1_Missense_Mutation_p.H168R|TP53_uc002gih.2_Missense_Mutation_p.H168R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H36R|TP53_uc010cng.1_Missense_Mutation_p.H36R|TP53_uc002gii.1_Missense_Mutation_p.H36R|TP53_uc010cnh.1_Missense_Mutation_p.H168R|TP53_uc010cni.1_Missense_Mutation_p.H168R|TP53_uc002gij.2_Missense_Mutation_p.H168R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H75R|TP53_uc002gio.2_Missense_Mutation_p.H36R|TP53_uc010vug.1_Missense_Mutation_p.H129R	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	168	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		QH -> HD (in a sporadic cancer; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|HM -> LI (in a sporadic cancer; somatic mutation).|QH -> YL (in a sporadic cancer; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> V (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|H -> R (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H168R(12)|p.H168P(9)|p.H168Y(9)|p.0?(7)|p.H168L(5)|p.H168H(4)|p.H168fs*2(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.H168_M169>LI(1)|p.H168fs*13(1)|p.H168fs*5(1)|p.H168Q(1)|p.H168fs*69(1)|p.Q167fs*12(1)|p.H168D(1)|p.Q167_H168>HD(1)|p.H168N(1)|p.Q167_H168>YL(1)|p.H168fs*3(1)|p.H168fs*4(1)|p.Q165_M169delQSQHM(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCCGTCATGTGCTGTGACTG	0.652		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C	7578427	T	C	7578427	3	2	19	1	0	0	0	0	1	0	0	0	16378	1696	59	3	795	3	TP53	17	7578427	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1307	7578427	73616783	2616	16915											
CYB5D1	124637	broad.mit.edu	37	chr17	7761604	7761604	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctaacgtcattggcacaggAatacaagggtaagggccaca	11	10	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:7761604A>G	uc002gjb.3	+	1	541	c.152A>G	c.(151-153)GAA>GGA	p.E51G	LSMD1_uc002giz.2_5'Flank|LSMD1_uc002gja.2_5'Flank|CYB5D1_uc010cnn.1_Missense_Mutation_p.E51G	NM_144607	NP_653208	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	51	Cytochrome b5 heme-binding.						heme binding			skin(1)	1		all_cancers(10;0.11)|Prostate(122;0.219)				TTGGCACAGGAATACAAGGGT	0.607											OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	7761604	A	G	7761604	3	3	19	1	0	0	0	0	1	0	0	0	4124	246	9	3	154	3	CYB5D1	17	7761604	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	183177	7761604	73433606	2617	16916											
ALOXE3	59344	broad.mit.edu	37	chr17	8013711	8013711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgggctcacctggatggCcaagggcaccagcgccccct	13	18	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:8013711C>T	uc010cnr.2	-	9	1463	c.1093G>A	c.(1093-1095)GCC>ACC	p.A365T	ALOXE3_uc002gka.2_Missense_Mutation_p.A521T|ALOXE3_uc010vuo.1_Missense_Mutation_p.A497T|ALOXE3_uc010vup.1_RNA	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3 isoform 2	365	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			skin(3)|lung(1)|central_nervous_system(1)	5						ACCTGGATGGCCAAGGGCACC	0.627											OREG0024154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	8013711	C	T	8013711	3	4	19	1	0	0	0	0	1	0	0	0	542	739	26	2	1074	2	ALOXE3	17	8013711	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	252107	8013711	73181499	2618	16917											
PER1	5187	broad.mit.edu	37	chr17	8049980	8049980	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctttcctctcggcctcCtcagggaccaaggctagtgg	11	14	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:8049980C>T	uc002gkd.2	-	15	2077	c.1839G>A	c.(1837-1839)GAG>GAA	p.E613E	PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Silent_p.E597E	NM_002616	NP_002607	O15534	PER1_HUMAN	period 1	613	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						TCTCGGCCTCCTCAGGGACCA	0.632			T	ETV6	AML|CMML			Other_conserved_DNA_damage_response_genes					T	8049980	C	T	8049980	2	4	19	1	0	0	0	0	0	0	0	1	11729	680	24	4		4	PER1	17	8049980	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	36269	8049980	73145230	2619	16918											
AURKB	9212	broad.mit.edu	37	chr17	8108325	8108325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttggagatgaggtcctggGctcccatgggcacggaagcg	17	9	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:8108325G>A	uc002gkm.2	-	9	960	c.899C>T	c.(898-900)GCC>GTC	p.A300V	AURKB_uc010cnu.2_Missense_Mutation_p.A120V|AURKB_uc002gkn.2_Missense_Mutation_p.A301V|AURKB_uc010vuu.1_Missense_Mutation_p.A259V|AURKB_uc002gko.2_RNA	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	aurora kinase B	300	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(1)|central_nervous_system(1)	4						GAGGTCCTGGGCTCCCATGGG	0.602													A	8108325	G	A	8108325	3	1	19	1	0	0	0	0	1	0	0	0	1223	1203	42	2	139	2	AURKB	17	8108325	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	58345	8108325	73086885	2620	16919											
C17orf68	80169	broad.mit.edu	37	chr17	8138088	8138088	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctggaggggacagtgatgTggctcttcaaggatctcatt	13	7	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:8138088T>C	uc002gkq.3	-	9	1655	c.1596A>G	c.(1594-1596)CCA>CCG	p.P532P	C17orf68_uc010cnv.2_RNA	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	alpha accessory factor 132	532					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding				0						GACAGTGATGTGGCTCTTCAA	0.582													C	8138088	T	C	8138088	2	2	19	1	0	0	0	0	0	0	0	1	1876	1683	59	3		3	C17orf68	17	8138088	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	29763	8138088	73057122	2621	16920											
NTN1	9423	broad.mit.edu	37	chr17	8926216	8926216	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacgtgggtgcccttccagTtctactccacgcagtgccgc	11	16	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:8926216T>C	uc002glw.3	+	2	633	c.526T>C	c.(526-528)TTC>CTC	p.F176L		NM_004822	NP_004813	O95631	NET1_HUMAN	netrin 1 precursor	176	Laminin N-terminal.				apoptosis|axon guidance		protein binding				0						GCCCTTCCAGTTCTACTCCAC	0.642													C	8926216	T	C	8926216	3	2	19	1	0	0	0	0	1	0	0	0	10700	1725	60	3	528	3	NTN1	17	8926216	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	788128	8926216	72268994	2622	16921											
WDR16	146845	broad.mit.edu	37	chr17	9489252	9489252	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctccaggtctggagagtAcatcgcctccggacaagtca	10	13	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:9489252A>G	uc002gly.2	+	2	302	c.233A>G	c.(232-234)TAC>TGC	p.Y78C	WDR16_uc002glz.2_Intron|WDR16_uc010coc.2_Missense_Mutation_p.Y88C	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN	WD40-repeat protein upregulated in HCC isoform	78	WD 1.					cytoplasm|intracellular membrane-bounded organelle	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						TCTGGAGAGTACATCGCCTCC	0.478													G	9489252	A	G	9489252	3	3	19	1	0	0	0	0	1	0	0	0	17273	391	14	3	239	3	WDR16	17	9489252	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	563036	9489252	71705958	2623	16922											
MYH4	4622	broad.mit.edu	37	chr17	10366715	10366715	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatggatcctgatgaattTacccttaaaaaagaaaagga	7	5	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:10366715T>C	uc002gmn.2	-	9	856	c.745A>G	c.(745-747)AAA>GAA	p.K249E	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	249	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						CTGATGAATTTACCCTTAAAA	0.323													C	10366715	T	C	10366715	3	2	19	1	0	0	0	0	1	0	0	0	10037	1763	61	3	5202	3	MYH4	17	10366715	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	877463	10366715	70828495	2624	16923											
DNAH9	1770	broad.mit.edu	37	chr17	11656204	11656204	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcacccatgatgggcccaAgtggattttactggatggcg	12	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:11656204A>G	uc002gne.2	+	33	6733	c.6665A>G	c.(6664-6666)AAG>AGG	p.K2222R	DNAH9_uc010coo.2_Missense_Mutation_p.K1516R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2222	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GATGGGCCCAAGTGGATTTTA	0.428													G	11656204	A	G	11656204	3	3	19	1	0	0	0	0	1	0	0	0	4608	72	3	3	6795	3	DNAH9	17	11656204	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1289489	11656204	69539006	2625	16924											
ELAC2	60528	broad.mit.edu	37	chr17	12909071	12909071	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaccaggcatctcaccTctcttccttcatgagtgatg	7	12	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:12909071T>C	uc002gnz.3	-	10	964	c.869A>G	c.(868-870)GAG>GGG	p.E290G	ELAC2_uc002gnv.3_5'Flank|ELAC2_uc002gnw.3_5'Flank|ELAC2_uc002gnx.3_Missense_Mutation_p.E50G|ELAC2_uc010vvo.1_Missense_Mutation_p.E113G|ELAC2_uc010vvp.1_Missense_Mutation_p.E271G|ELAC2_uc010vvq.1_Missense_Mutation_p.E290G|ELAC2_uc010vvr.1_Missense_Mutation_p.E250G	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	elaC homolog 2 isoform 1	290					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding				0						GCATCTCACCTCTCTTCCTTC	0.502									Hereditary_Prostate_Cancer				C	12909071	T	C	12909071	3	2	19	1	0	0	0	0	1	0	0	0	5047	1565	54	3	1671	3	ELAC2	17	12909071	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1252867	12909071	68286139	2626	16925											
TRPV2	51393	broad.mit.edu	37	chr17	16338211	16338211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgttgccctcagggtggagGaggtgaactgggcttcatgg	17	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:16338211G>A	uc002gpy.2	+	14	2489	c.2122G>A	c.(2122-2124)GAG>AAG	p.E708K	TRPV2_uc002gpz.2_Missense_Mutation_p.E278K	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	708	Cytoplasmic (Potential).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CAGGGTGGAGGAGGTGAACTG	0.637													A	16338211	G	A	16338211	3	1	19	1	0	0	0	0	1	0	0	0	16593	1175	41	4	2172	4	TRPV2	17	16338211	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3429140	16338211	64856999	2627	16926											
ZNF287	57336	broad.mit.edu	37	chr17	16455634	16455634	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtgttctatgatgttgagTaagatttgcactctggctga	11	5	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:16455634T>C	uc002gqi.2	-	6	2275	c.1822A>G	c.(1822-1824)ACT>GCT	p.T608A		NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	zinc finger protein 287	601	C2H2-type 9.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TGATGTTGAGTAAGATTTGCA	0.408													C	16455634	T	C	16455634	3	2	19	1	0	0	0	0	1	0	0	0	17822	1638	57	3	467	3	ZNF287	17	16455634	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	117423	16455634	64739576	2628	16927											
NT5M	56953	broad.mit.edu	37	chr17	17250190	17250190	+	Frame_Shift_Del	DEL	C	C	-													accagcacctgcagctgcagCccccccgccgcaggctgcac							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:17250189_17250189GC>G	uc002grf.3	+	4	800	c.615_615GC>G	c.(613-615)cagfs	p.Q205fs	NT5M_uc002grg.3_Frame_Shift_Del_p.Q211fs	NM_020201	NP_064586	Q9NPB1	NT5M_HUMAN	Homo sapiens 5',3'-nucleotidase, mitochondrial (NT5M), nuclear gene encoding mitochondrial protein, mRNA.	205					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding	p.L204P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TGCAGCTGCAGCCCCCCCGCC	0.672													-	17250190	C	-	17250190	7	5	19	1	0	1	0	1	0	0	0	0	10694	739	26	0	634	0	NT5M	17	17250190	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	794556	17250190	63945020	2629	16928											
RAI1	10743	broad.mit.edu	37	chr17	17698099	17698099	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctggcctccgagatcctgGggctgcaggaagccatcggt	14	13	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:17698099G>T	uc002grm.2	+	3	2306	c.1837G>T	c.(1837-1839)GGG>TGG	p.G613W	RAI1_uc002grn.1_Missense_Mutation_p.G613W	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	613						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CGAGATCCTGGGGCTGCAGGA	0.652													T	17698099	G	T	17698099	3	4	19	1	0	0	0	0	1	0	0	0	13007	1232	43	5	1839	5	RAI1	17	17698099	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	447909	17698099	63497111	2630	16929											
RAI1	10743	broad.mit.edu	37	chr17	17700169	17700169	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agacccccgatgcctgcctcAagctcgcctctcgggcagcc	10	19	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:17700169A>T	uc002grm.2	+	3	4376	c.3907A>T	c.(3907-3909)AAG>TAG	p.K1303*	RAI1_uc002grn.1_Nonsense_Mutation_p.K1303*	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1303						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		TGCCTGCCTCAAGCTCGCCTC	0.637													T	17700169	A	T	17700169	4	4	19	1	0	0	0	0	0	1	0	0	13007	131	5	5	3909	5	RAI1	17	17700169	Nonsense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2070	17700169	63495041	2631	16930											
RAI1	10743	broad.mit.edu	37	chr17	17700292	17700292	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcgcccagcctcaagaagTtcgcatgtaaagcgccaggg	11	14	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:17700292T>A	uc002grm.2	+	3	4499	c.4030T>A	c.(4030-4032)TTC>ATC	p.F1344I	RAI1_uc002grn.1_Missense_Mutation_p.F1344I	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1344						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CCTCAAGAAGTTCGCATGTAA	0.637													A	17700292	T	A	17700292	3	1	19	1	0	0	0	0	1	0	0	0	13007	1725	60	5	4032	5	RAI1	17	17700292	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	123	17700292	63494918	2632	16931											
EPN2	22905	broad.mit.edu	37	chr17	19186549	19186549	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggggcccgtccagttctctGatgaccgagattgccgacct	12	13	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:19186549G>A	uc002gvd.3	+	3	565	c.117G>A	c.(115-117)CTG>CTA	p.L39L	EPN2_uc002gvc.2_Silent_p.L39L|EPN2_uc010vyn.1_Silent_p.L39L|EPN2_uc010cql.1_Intron|EPN2_uc002gve.3_Silent_p.L39L|EPN2_uc002gvf.3_Intron|EPN2_uc010vyo.1_Intron|EPN2_uc002gvg.1_Silent_p.L39L|EPN2_uc010vyp.1_Silent_p.L39L|EPN2_uc010vyq.1_Silent_p.L39L|EPN2_uc002gvh.1_Silent_p.L39L	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	39	ENTH.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CCAGTTCTCTGATGACCGAGA	0.547													A	19186549	G	A	19186549	2	1	19	1	0	0	0	0	0	0	0	1	5186	1277	45	4		4	EPN2	17	19186549	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1486257	19186549	62008661	2633	16932											
MAPK7	5598	broad.mit.edu	37	chr17	19284780	19284780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtccagatgttgaaatgCccagtccctgggctcccagt	11	13	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:19284780C>T	uc002gvn.2	+	4	1644	c.1258C>T	c.(1258-1260)CCC>TCC	p.P420S	MAPK7_uc002gvo.2_Missense_Mutation_p.P281S|MAPK7_uc002gvq.2_Missense_Mutation_p.P420S|MAPK7_uc002gvp.2_Missense_Mutation_p.P420S	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	420	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TGTTGAAATGCCCAGTCCCTG	0.622													T	19284780	C	T	19284780	3	4	19	1	0	0	0	0	1	0	0	0	9282	739	26	2	1268	2	MAPK7	17	19284780	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	98231	19284780	61910430	2634	16933											
ALDH3A2	224	broad.mit.edu	37	chr17	19555013	19555013	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atattcagccacagcctctgGgagtggtgctgataatcgga	12	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:19555013G>T	uc002gwb.1	+	2	528	c.307G>T	c.(307-309)GGA>TGA	p.G103*	ALDH3A2_uc002gwa.1_Nonsense_Mutation_p.G103*|ALDH3A2_uc010cqr.1_5'UTR|ALDH3A2_uc002gwc.1_Nonsense_Mutation_p.G103*	NM_000382	NP_000373	P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3A2 isoform 2	103	Cytoplasmic.				cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(2)	2	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	ACAGCCTCTGGGAGTGGTGCT	0.488													T	19555013	G	T	19555013	4	4	19	1	0	0	0	0	0	1	0	0	498	1233	43	5	313	5	ALDH3A2	17	19555013	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	270233	19555013	61640197	2635	16934											
ALDH3A2	224	broad.mit.edu	37	chr17	19559709	19559709	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgttattaatggtggtgttGaggaaaccacggagctcctg	13	6	0	1	rs75565573		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:19559709G>A	uc002gwb.1	+	4	723	c.502G>A	c.(502-504)GAG>AAG	p.E168K	ALDH3A2_uc002gwa.1_Missense_Mutation_p.E168K|ALDH3A2_uc010cqr.1_5'UTR|ALDH3A2_uc002gwc.1_Missense_Mutation_p.E168K|ALDH3A2_uc002gwd.1_5'UTR	NM_000382	NP_000373	P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3A2 isoform 2	168	Cytoplasmic.				cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(2)	2	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	TGGTGGTGTTGAGGAAACCAC	0.423													A	19559709	G	A	19559709	3	1	19	1	0	0	0	0	1	0	0	0	498	1291	45	4	516	4	ALDH3A2	17	19559709	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	4696	19559709	61635501	2636	16935											
CCDC144NL	339184	broad.mit.edu	37	chr17	20799282	20799282	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctcgtggcgtagactgccgGcttcggagaccccccagccc	12	18	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:20799282G>C	uc002gyf.2	-	1	172	c.52C>G	c.(52-54)CCG>GCG	p.P18A	uc002gyg.1_Intron|uc002gyh.1_Intron	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family,	18											0						TAGACTGCCGGCTTCGGAGAC	0.647											OREG0024248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	20799282	G	C	20799282	3	2	19	1	0	0	0	0	1	0	0	0	2779	1203	42	5	629	5	CCDC144NL	17	20799282	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1239573	20799282	60395928	2637	16936											
USP22	23326	broad.mit.edu	37	chr17	20921306	20921306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacaggagctggggctctgCatctcacagcggtgcctgtc	14	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:20921306C>T	uc002gym.3	-	5	843	c.639G>A	c.(637-639)ATG>ATA	p.M213I	USP22_uc002gyn.3_Missense_Mutation_p.M201I|USP22_uc002gyl.3_Missense_Mutation_p.M108I	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	ubiquitin thiolesterase 22	213					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1						TGGGGCTCTGCATCTCACAGC	0.542													T	20921306	C	T	20921306	3	4	19	1	0	0	0	0	1	0	0	0	17051	710	25	2	974	2	USP22	17	20921306	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	122024	20921306	60273904	2638	16937											
KSR1	8844	broad.mit.edu	37	chr17	25919448	25919448	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagaatatccttcctgccaCgtgagttttctgccttcctc	7	13	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:25919448C>T	uc010crg.2	+	8	1226	c.781C>T	c.(781-783)CTA>TTA	p.L261L	KSR1_uc002gzj.1_RNA|KSR1_uc002gzm.2_Silent_p.L62L	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras	396					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTTCCTGCCACGTGAGTTTTC	0.473													T	25919448	C	T	25919448	2	4	19	1	0	0	0	0	0	0	0	1	8581	550	19	1		1	KSR1	17	25919448	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	4998142	25919448	55275762	2639	16938											
NLK	51701	broad.mit.edu	37	chr17	26449740	26449741	+	Frame_Shift_Ins	INS	-	-	T													gggaattgaagatgttgtgtINSttttttaagcatgataatgt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:26449739_26449740G>GT	uc010crj.3	+	1	781_782	c.569_570G>GT	c.(568-570)tgtfs	p.C190fs		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	190	Protein kinase.				Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding	p.C190C(2)|p.C178C(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AAGATGTTGTGTTTTTTTAAGC	0.391													T	26449741	-	T	26449740	7	5	19	1	0	1	1	0	0	0	0	0	10466	1731	60	0	576	0	NLK	17	26449740	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	530292	26449740	54745470	2640	16939											
KIAA0100	9703	broad.mit.edu	37	chr17	26960389	26960389	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agacaggtggctccactcccAgtgcatattttcagttgtgt	10	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:26960389A>C	uc002hbu.2	-	19	3595	c.3496T>G	c.(3496-3498)TGG>GGG	p.W1166G		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1166						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					CTCCACTCCCAGTGCATATTT	0.458													C	26960389	A	C	26960389	3	2	19	1	0	0	0	0	1	0	0	0	8154	188	7	5	3295	5	KIAA0100	17	26960389	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	510649	26960389	54234821	2641	16940											
KIAA0100	9703	broad.mit.edu	37	chr17	26964956	26964956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagagtgcctagagacagCtgacttcccagattgtggac	12	9	0	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:26964956C>T	uc002hbu.2	-	14	1768	c.1669G>A	c.(1669-1671)GCT>ACT	p.A557T		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	557						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					CTAGAGACAGCTGACTTCCCA	0.473													T	26964956	C	T	26964956	3	4	19	1	0	0	0	0	1	0	0	0	8154	797	28	2	5142	2	KIAA0100	17	26964956	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	4567	26964956	54230254	2642	16941											
ERAL1	26284	broad.mit.edu	37	chr17	27185617	27185617	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattgtttgaagcagaagtcAgttctcctggagctcacggc	12	9	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:27185617A>G	uc002hcy.1	+	7	745	c.735A>G	c.(733-735)TCA>TCG	p.S245S	ERAL1_uc002hcz.1_RNA|ERAL1_uc002hda.1_Silent_p.S52S|ERAL1_uc002hdb.1_Silent_p.S128S	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Era-like 1	245					ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			skin(1)	1	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			AGCAGAAGTCAGTTCTCCTGG	0.557													G	27185617	A	G	27185617	2	3	19	1	0	0	0	0	0	0	0	1	5202	175	7	3		3	ERAL1	17	27185617	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	220661	27185617	54009593	2643	16942											
PHF12	57649	broad.mit.edu	37	chr17	27233246	27233247	+	Frame_Shift_Del	DEL	GA	GA	-													acagggccctggtggggcttGagagagagcttctcggccaa							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:27233245_27233246TGA>T	uc002hdg.1	-	14	3500_3501	c.2970_2971TCA>A	c.(2968-2973)ctcaagfs	p.L990fs	PHF12_uc010wbb.1_Frame_Shift_Del_p.L972fs	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	990					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TGGTGGGGCTTGAGAGAGAGCT	0.604													-	27233247	GA	-	27233246	7	5	19	1	0	1	0	1	0	0	0	0	11823	1277	45	0	48	0	PHF12	17	27233246	Frame_Shift_Del	DEL	GA	TCGA-BR-4361-01A-01D-1158-08	47629	27233246	53961964	2644	16943											
PIPOX	51268	broad.mit.edu	37	chr17	27380576	27380576	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtccttggaccaaccAgctcctccgtcccctgggca	10	17	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:27380576A>G	uc002hdr.1	+	4	949	c.623A>G	c.(622-624)CAG>CGG	p.Q208R		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	208					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity				0	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TGGACCAACCAGCTCCTCCGT	0.493													G	27380576	A	G	27380576	3	3	19	1	0	0	0	0	1	0	0	0	11943	188	7	3	637	3	PIPOX	17	27380576	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	147330	27380576	53814634	2645	16944											
MYO18A	399687	broad.mit.edu	37	chr17	27420384	27420384	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccctccagctcccgcttcTctcgcagaaccttctgcttg	7	18	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:27420384T>G	uc002hdt.1	-	32	5041	c.4883A>C	c.(4882-4884)GAG>GCG	p.E1628A	MYO18A_uc010wbc.1_Missense_Mutation_p.E1161A|MYO18A_uc002hds.2_Missense_Mutation_p.E1170A|MYO18A_uc010csa.1_Missense_Mutation_p.E1591A|MYO18A_uc002hdu.1_Missense_Mutation_p.E1628A	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	1628	Potential.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTCCCGCTTCTCTCGCAGAAC	0.612													G	27420384	T	G	27420384	3	3	19	1	0	0	0	0	1	0	0	0	10065	1551	54	5	1325	5	MYO18A	17	27420384	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	39808	27420384	53774826	2646	16945											
MYO18A	399687	broad.mit.edu	37	chr17	27437032	27437032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcgggaggaggcggaacGgggctccccagcccagccct	17	15	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:27437032G>A	uc002hdt.1	-	19	3333	c.3175C>T	c.(3175-3177)CGT>TGT	p.R1059C	MYO18A_uc010wbc.1_Missense_Mutation_p.R601C|MYO18A_uc002hds.2_Missense_Mutation_p.R601C|MYO18A_uc010csa.1_Missense_Mutation_p.R1059C|MYO18A_uc002hdu.1_Missense_Mutation_p.R1059C|MYO18A_uc010wbd.1_Missense_Mutation_p.R728C	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	1059	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GAGGCGGAACGGGGCTCCCCA	0.652													A	27437032	G	A	27437032	3	1	19	1	0	0	0	0	1	0	0	0	10065	1116	39	1	3085	1	MYO18A	17	27437032	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	16648	27437032	53758178	2647	16946											
MYO18A	399687	broad.mit.edu	37	chr17	27447649	27447649	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacctgaatggaggctgaGgccacctggccagcttggtc	13	13	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:27447649G>A	uc002hdt.1	-	7	1871	c.1713C>T	c.(1711-1713)GCC>GCT	p.A571A	MYO18A_uc010wbc.1_Silent_p.A113A|MYO18A_uc002hds.2_Silent_p.A113A|MYO18A_uc010csa.1_Silent_p.A571A|MYO18A_uc002hdu.1_Silent_p.A571A|MYO18A_uc010wbd.1_Silent_p.A240A	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	571	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGGAGGCTGAGGCCACCTGGC	0.572													A	27447649	G	A	27447649	2	1	19	1	0	0	0	0	0	0	0	1	10065	987	35	4		4	MYO18A	17	27447649	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	10617	27447649	53747561	2648	16947											
TAOK1	57551	broad.mit.edu	37	chr17	27838012	27838012	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagagcagcttaaagaggTacttatgtcataaaactttc	7	6	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:27838012T>C	uc002hdz.1	+	15	1898	c.1704_splice	c.e15+2	p.E568_splice	TAOK1_uc010wbe.1_Splice_Site_p.E568_splice|TAOK1_uc010wbf.1_Splice_Site_p.E568_splice|TAOK1_uc002heb.1_Missense_Mutation_p.V395A	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1						mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)			CTTAAAGAGGTACTTATGTCA	0.333													C	27838012	T	C	27838012	5	2	19	1	0	0	0	0	0	0	1	0	15544	1652	57	3	1760	3	TAOK1	17	27838012	Splice_Site	SNP	T	TCGA-BR-4361-01A-01D-1158-08	390363	27838012	53357198	2649	16948											
EFCAB5	374786	broad.mit.edu	37	chr17	28380478	28380478	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagaacatcaacaccatcAccaaacccgccagaacagca	5	16	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:28380478A>G	uc002het.2	+	10	1698	c.1506A>G	c.(1504-1506)TCA>TCG	p.S502S	EFCAB5_uc010wbi.1_Silent_p.S245S|EFCAB5_uc010wbj.1_Silent_p.S446S|EFCAB5_uc010wbk.1_Silent_p.S159S|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Silent_p.S381S|EFCAB5_uc010csf.2_Silent_p.S381S	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	502							calcium ion binding			ovary(1)|skin(1)	2						CAACACCATCACCAAACCCGC	0.398													G	28380478	A	G	28380478	2	3	19	1	0	0	0	0	0	0	0	1	4938	146	6	3		3	EFCAB5	17	28380478	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	542466	28380478	52814732	2650	16949											
SLC6A4	6532	broad.mit.edu	37	chr17	28530221	28530221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctggagtgatgatcaacCgataagctatatatgtgggg	12	7	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:28530221C>T	uc002hey.3	-	14	2331	c.1787G>A	c.(1786-1788)CGG>CAG	p.R596Q	SLC6A4_uc010csg.2_RNA	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	596	Cytoplasmic (Potential).				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GATGATCAACCGATAAGCTAT	0.378													T	28530221	C	T	28530221	3	4	19	1	0	0	0	0	1	0	0	0	14686	652	23	1	113	1	SLC6A4	17	28530221	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	149743	28530221	52664989	2651	16950											
NF1	4763	broad.mit.edu	37	chr17	29587399	29587399	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaaggtttttccttgaTatagcatctgattgtcctac	7	7	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:29587399T>A	uc002hgg.2	+	34	4776	c.4443T>A	c.(4441-4443)GAT>GAA	p.D1481E	NF1_uc002hgh.2_Missense_Mutation_p.D1460E|NF1_uc002hgi.1_Missense_Mutation_p.D493E	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1481					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(3)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTCCTTGATATAGCATCTG	0.343			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29587399	T	A	29587399	3	1	19	1	0	0	0	0	1	0	0	0	10356	1403	49	5	4638	5	NF1	17	29587399	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1057178	29587399	51607811	2652	16951											
UTP6	55813	broad.mit.edu	37	chr17	30202317	30202317	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagggctctttgactcgAtcagcacctgcagcttcagc	10	13	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:30202317A>G	uc002hgr.2	-	14	1324	c.1241T>C	c.(1240-1242)ATC>ACC	p.I414T	UTP6_uc002hgq.2_Missense_Mutation_p.I230T|UTP6_uc010cst.2_Missense_Mutation_p.I263T	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	hepatocellular carcinoma-associated antigen 66	414					rRNA processing	nucleolus	binding			ovary(1)	1		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CTTTGACTCGATCAGCACCTG	0.463													G	30202317	A	G	30202317	3	3	19	1	0	0	0	0	1	0	0	0	17099	333	12	3	576	3	UTP6	17	30202317	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	614918	30202317	50992893	2653	16952											
TMEM132E	124842	broad.mit.edu	37	chr17	32953916	32953916	+	Frame_Shift_Del	DEL	C	C	-													gcatcagcctgttccgcccgCcccccaggaggaccctgcag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:32953915_32953915GC>G	uc002hif.3	+	2	895	c.567_567GC>G	c.(565-567)ccgfs	p.P189fs		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	189						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGTTCCGCCCGCCCCCCAGGA	0.736													-	32953916	C	-	32953916	7	5	19	1	0	1	0	1	0	0	0	0	16045	739	26	0	578	0	TMEM132E	17	32953916	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	2751599	32953916	48241294	2654	16953											
CCT6B	10693	broad.mit.edu	37	chr17	33266705	33266705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatcttcaaaagaattcacGgccattccaccacaagcaag	6	12	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:33266705G>A	uc002hig.2	-	9	1090	c.996C>T	c.(994-996)GCC>GCT	p.A332A	CCT6B_uc010ctg.2_Silent_p.A295A|CCT6B_uc010wcc.1_Silent_p.A287A	NM_006584	NP_006575	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B	332					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			pancreas(1)	1		Ovarian(249;0.17)				AAGAATTCACGGCCATTCCAC	0.363													A	33266705	G	A	33266705	2	1	19	1	0	0	0	0	0	0	0	1	2958	1103	39	1		1	CCT6B	17	33266705	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	312789	33266705	47928505	2655	16954											
SLFN12	55106	broad.mit.edu	37	chr17	33747357	33747357	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggggagcaggtaatgaCgtatttatttgagagatcac	13	5	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:33747357C>T	uc002hji.3	-	3	1460	c.1083G>A	c.(1081-1083)ACG>ACA	p.T361T	SLFN12_uc002hjj.3_Silent_p.T361T|SLFN12_uc010cts.2_Silent_p.T361T	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	schlafen family member 12	361				T -> A (in Ref. 1; BAA91512).			ATP binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGGTAATGACGTATTTATTT	0.398													T	33747357	C	T	33747357	2	4	19	1	0	0	0	0	0	0	0	1	14734	523	19	1		1	SLFN12	17	33747357	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	480652	33747357	47447853	2656	16955											
SLFN13	146857	broad.mit.edu	37	chr17	33770933	33770933	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcctcagcaaagtctggaGgaaactctgaaagaaagaac	11	8	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:33770933G>T	uc002hjk.1	-	2	1403	c.1073C>A	c.(1072-1074)CCT>CAT	p.P358H	SLFN13_uc010wch.1_Missense_Mutation_p.P358H|SLFN13_uc002hjl.2_Missense_Mutation_p.P358H|SLFN13_uc010ctt.2_Missense_Mutation_p.P40H|SLFN13_uc002hjm.2_Missense_Mutation_p.P27H	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	schlafen family member 13	358						intracellular	ATP binding			ovary(1)|breast(1)	2				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAAGTCTGGAGGAAACTCTGA	0.388													T	33770933	G	T	33770933	3	4	19	1	0	0	0	0	1	0	0	0	14736	1000	35	5	1632	5	SLFN13	17	33770933	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	23576	33770933	47424277	2657	16956											
AP2B1	163	broad.mit.edu	37	chr17	33998825	33998825	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaacctttgctccttcacCtacacctgctgtggtcagca	7	15	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:33998825C>A	uc002hjr.2	+	15	2231	c.2042C>A	c.(2041-2043)CCT>CAT	p.P681H	AP2B1_uc002hjq.2_Missense_Mutation_p.P695H|AP2B1_uc010wci.1_Missense_Mutation_p.P657H|AP2B1_uc002hjs.2_Missense_Mutation_p.P624H|AP2B1_uc002hjt.2_Missense_Mutation_p.P695H|AP2B1_uc010ctv.2_Missense_Mutation_p.P695H|AP2B1_uc010wcj.1_Missense_Mutation_p.P432H	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	681	Pro-rich (stalk region).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GCTCCTTCACCTACACCTGCT	0.507													A	33998825	C	A	33998825	3	1	19	1	0	0	0	0	1	0	0	0	741	681	24	5	2142	5	AP2B1	17	33998825	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	227892	33998825	47196385	2658	16957											
RASL10B	91608	broad.mit.edu	37	chr17	34062412	34062412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgccttccctgtcaataCgctccaggtaggaggaccct	10	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:34062412C>T	uc002hju.2	+	2	575	c.209C>T	c.(208-210)ACG>ATG	p.T70M		NM_033315	NP_201572	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B precursor	70	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			lung(2)|breast(2)	4				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTGTCAATACGCTCCAGGTA	0.612													T	34062412	C	T	34062412	3	4	19	1	0	0	0	0	1	0	0	0	13080	536	19	1	211	1	RASL10B	17	34062412	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	63587	34062412	47132798	2659	16958											
GAS2L2	246176	broad.mit.edu	37	chr17	34072896	34072896	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagccaggtccacagtgacGgcccttagtgggatggggtc	15	12	0	1	rs144128342	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:34072896G>T	uc002hjv.1	-	6	1648	c.1620C>A	c.(1618-1620)GCC>GCA	p.A540A		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	540					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCACAGTGACGGCCCTTAGTG	0.622													T	34072896	G	T	34072896	2	4	19	1	0	0	0	0	0	0	0	1	6247	1103	39	5		5	GAS2L2	17	34072896	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	10484	34072896	47122314	2660	16959											
MYO19	80179	broad.mit.edu	37	chr17	34862384	34862384	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggggttagtaggaaacaGccccatgagcagggggtcct	15	8	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:34862384G>A	uc010wcy.1	-	19	2700	c.1708C>T	c.(1708-1710)CTG>TTG	p.L570L	MYO19_uc002hmw.2_Intron|MYO19_uc010cuu.2_RNA|MYO19_uc010wcz.1_RNA	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	myosin XIX isoform 2	570	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)	1		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GTAGGAAACAGCCCCATGAGC	0.592													A	34862384	G	A	34862384	2	1	19	1	0	0	0	0	0	0	0	1	10067	962	34	2		2	MYO19	17	34862384	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	789488	34862384	46332826	2661	16960											
GGNBP2	79893	broad.mit.edu	37	chr17	34937854	34937854	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaacgagtaagagaActcaagcaagaaaagaaacg	12	5	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:34937854A>G	uc002hnb.2	+	9	1350	c.1101A>G	c.(1099-1101)GAA>GAG	p.E367E	GGNBP2_uc002hna.2_Silent_p.E367E|GGNBP2_uc002hnc.1_Silent_p.E196E	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	367					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GAGTAAGAGAACTCAAGCAAG	0.368													G	34937854	A	G	34937854	2	3	19	1	0	0	0	0	0	0	0	1	6359	40	2	3		3	GGNBP2	17	34937854	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	75470	34937854	46257356	2662	16961											
LHX1	3975	broad.mit.edu	37	chr17	35300172	35300172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatctgggccgtccgggaCgcccctgggtggcctggagc	17	14	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:35300172C>T	uc002hnh.1	+	5	1961	c.965C>T	c.(964-966)ACG>ATG	p.T322M		NM_005568	NP_005559	P48742	LHX1_HUMAN	LIM homeobox protein 1	322					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(25;0.00607)				CCGTCCGGGACGCCCCTGGGT	0.726													T	35300172	C	T	35300172	3	4	19	1	0	0	0	0	1	0	0	0	8770	536	19	1	983	1	LHX1	17	35300172	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	362318	35300172	45895038	2663	16962											
LHX1	3975	broad.mit.edu	37	chr17	35300261	35300261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcctggcgcacccacccGgggactcgcccagccccgag	11	20	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:35300261G>A	uc002hnh.1	+	5	2050	c.1054G>A	c.(1054-1056)GGG>AGG	p.G352R		NM_005568	NP_005559	P48742	LHX1_HUMAN	LIM homeobox protein 1	352					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(25;0.00607)				GCACCCACCCGGGGACTCGCC	0.741													A	35300261	G	A	35300261	3	1	19	1	0	0	0	0	1	0	0	0	8770	1116	39	1	1072	1	LHX1	17	35300261	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	89	35300261	45894949	2664	16963											
ACACA	31	broad.mit.edu	37	chr17	35627644	35627644	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaacagcttatactctacctGtctgaagagattagggaagt	9	7	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:35627644G>C	uc002hnm.2	-	10	1197	c.1006C>G	c.(1006-1008)CAG>GAG	p.Q336E	ACACA_uc002hnk.2_Missense_Mutation_p.Q258E|ACACA_uc002hnl.2_Missense_Mutation_p.Q278E|ACACA_uc002hnn.2_Missense_Mutation_p.Q336E|ACACA_uc002hno.2_Missense_Mutation_p.Q373E|ACACA_uc010cuz.2_Missense_Mutation_p.Q336E	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	336	Biotin carboxylation.|ATP-grasp.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TACTCTACCTGTCTGAAGAGA	0.363													C	35627644	G	C	35627644	3	2	19	1	0	0	0	0	1	0	0	0	106	1386	48	5	6222	5	ACACA	17	35627644	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	327383	35627644	45567566	2665	16964											
TADA2A	6871	broad.mit.edu	37	chr17	35830566	35830566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgccttaaacgcactatgCtctcagaagttctccagtat	7	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:35830566C>T	uc002hnt.2	+	13	1115	c.958C>T	c.(958-960)CTC>TTC	p.L320F	TADA2A_uc002hnv.2_Missense_Mutation_p.L320F|TADA2A_uc002hnw.2_Missense_Mutation_p.L219F|TADA2A_uc010cvb.2_Missense_Mutation_p.L116F	NM_001488	NP_001479	O75478	TAD2A_HUMAN	transcriptional adaptor 2A isoform a	320					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(3)|skin(1)	4						ACGCACTATGCTCTCAGAAGT	0.512													T	35830566	C	T	35830566	3	4	19	1	0	0	0	0	1	0	0	0	15507	797	28	2	1099	2	TADA2A	17	35830566	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	202922	35830566	45364644	2666	16965											
GPR179	440435	broad.mit.edu	37	chr17	36485249	36485249	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcttttcctgagggagAtccttcactgcctcttgggc	10	12	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:36485249A>G	uc002hpz.2	-	11	4224	c.4203T>C	c.(4201-4203)GAT>GAC	p.D1401D		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1401	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTGAGGGAGATCCTTCACTG	0.527													G	36485249	A	G	36485249	2	3	19	1	0	0	0	0	0	0	0	1	6674	330	12	3		3	GPR179	17	36485249	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	654683	36485249	44709961	2667	16966											
GPR179	440435	broad.mit.edu	37	chr17	36489875	36489875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgggtgtggaagaagaAgaggaggagggtccagtccg	20	5	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:36489875A>G	uc002hpz.2	-	9	1852	c.1831T>C	c.(1831-1833)TTC>CTC	p.F611L		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	611	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGGAAGAAGAAGAGGAGGAGG	0.622											OREG0024354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	36489875	A	G	36489875	3	3	19	1	0	0	0	0	1	0	0	0	6674	72	3	3	5284	3	GPR179	17	36489875	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	4626	36489875	44705335	2668	16967											
CWC25	54883	broad.mit.edu	37	chr17	36971185	36971185	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaattggcacctgatggggcAaagatagagcctgggagaag	16	6	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:36971185A>G	uc002hqu.2	-	3	510	c.357T>C	c.(355-357)TTT>TTC	p.F119F	CWC25_uc010wdv.1_Silent_p.F56F|CWC25_uc010wdw.1_RNA|CWC25_uc010wdx.1_RNA	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	coiled-coil domain containing 49	119											0						CTGATGGGGCAAAGATAGAGC	0.532													G	36971185	A	G	36971185	2	3	19	1	0	0	0	0	0	0	0	1	4069	127	5	3		3	CWC25	17	36971185	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	481310	36971185	44224025	2669	16968											
FBXO47	494188	broad.mit.edu	37	chr17	37101363	37101363	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcctacagaagagtctgaTtcttaactccagtttttggg	8	8	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:37101363T>C	uc002hrc.2	-	7	843	c.643A>G	c.(643-645)ATC>GTC	p.I215V		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	F-box protein 47	215											0						AAGAGTCTGATTCTTAACTCC	0.388													C	37101363	T	C	37101363	3	2	19	1	0	0	0	0	1	0	0	0	5756	1493	52	3	735	3	FBXO47	17	37101363	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	130178	37101363	44093847	2670	16969											
MED1	5469	broad.mit.edu	37	chr17	37564724	37564724	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgggacaacgagcctgaggaTcctaaccctgaagatgactt	11	10	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:37564724T>A	uc002hrv.3	-	17	3962	c.3750A>T	c.(3748-3750)GGA>GGT	p.G1250G	MED1_uc010wee.1_Silent_p.G1078G|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1250	Ser-rich.|Interaction with TP53.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AGCCTGAGGATCCTAACCCTG	0.488										HNSCC(31;0.082)			A	37564724	T	A	37564724	2	1	19	1	0	0	0	0	0	0	0	1	9425	1422	50	5		5	MED1	17	37564724	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	463361	37564724	43630486	2671	16970											
PGAP3	93210	broad.mit.edu	37	chr17	37829804	37829804	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accaggttgtagccatagtcGaagcggatgaggctcaggta	14	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:37829804G>A	uc002hsj.2	-	6	700	c.657C>T	c.(655-657)TTC>TTT	p.F219F	PGAP3_uc010cvy.2_Intron|PGAP3_uc010wej.1_Silent_p.F198F|PGAP3_uc002hsk.2_Silent_p.F168F|PGAP3_uc010cvz.2_Intron	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN	per1-like domain containing 1 precursor	219	Lumenal (Potential).				GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			upper_aerodigestive_tract(1)	1						AGCCATAGTCGAAGCGGATGA	0.632													A	37829804	G	A	37829804	2	1	19	1	0	0	0	0	0	0	0	1	11779	1049	37	1		1	PGAP3	17	37829804	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	265080	37829804	43365406	2672	16971											
MED24	9862	broad.mit.edu	37	chr17	38191547	38191547	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgcagcagccagtggaGggcgctaagaagggctcggc	18	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:38191547G>T	uc002htt.2	-	6	695	c.382C>A	c.(382-384)CTC>ATC	p.L128I	MED24_uc010wes.1_5'UTR|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.L153I|MED24_uc002htu.2_Missense_Mutation_p.L115I|MED24_uc010cwn.2_Missense_Mutation_p.L115I|MED24_uc010weu.1_Missense_Mutation_p.L38I|MED24_uc010wev.1_Missense_Mutation_p.L78I|MED24_uc010wew.1_Missense_Mutation_p.L57I|MED24_uc010wex.1_Intron|MED24_uc010wez.1_5'Flank|MED24_uc010wfa.1_Missense_Mutation_p.L78I|MED24_uc010wfb.1_Missense_Mutation_p.L140I|MED24_uc010wfc.1_Missense_Mutation_p.L65I	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	128	LXXLL motif 1.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)					AGCCAGTGGAGGGCGCTAAGA	0.627											OREG0024387	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	38191547	G	T	38191547	3	4	19	1	0	0	0	0	1	0	0	0	9442	1000	35	5	2671	5	MED24	17	38191547	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	361743	38191547	43003663	2673	16972											
TNS4	84951	broad.mit.edu	37	chr17	38638399	38638399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctctctgtgggatggtgaGtttgcagggcagggccaggg	18	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:38638399G>A	uc010cxb.2	-	8	1818	c.1654C>T	c.(1654-1656)CTC>TTC	p.L552F	TNS4_uc002huu.3_5'Flank	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	552	Phosphatase tensin-type.|SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGGATGGTGAGTTTGCAGGGC	0.572													A	38638399	G	A	38638399	3	1	19	1	0	0	0	0	1	0	0	0	16342	1029	36	4	517	4	TNS4	17	38638399	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	446852	38638399	42556811	2674	16973											
KRTAP9-8	83901	broad.mit.edu	37	chr17	39394370	39394370	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgctggaagcccaccActgtgaccacctgcagcagc	9	18	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:39394370A>G	uc002hwh.3	+	1	101	c.67A>G	c.(67-69)ACT>GCT	p.T23A	KRTAP9-9_uc010wfq.1_Intron	NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9.8	23	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				ovary(1)	1		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GAAGCCCACCACTGTGACCAC	0.607													G	39394370	A	G	39394370	3	3	19	1	0	0	0	0	1	0	0	0	8576	159	6	3	69	3	KRTAP9-8	17	39394370	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	755971	39394370	41800840	2675	16974											
KRT35	3886	broad.mit.edu	37	chr17	39636904	39636904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggagctcctcgatggtcCggaagtaggactggtagtca	14	9	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:39636904C>T	uc002hws.2	-	1	489	c.446G>A	c.(445-447)CGG>CAG	p.R149Q		NM_002280	NP_002271	Q92764	KRT35_HUMAN	keratin 35	149	Rod.|Coil 1B.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			ovary(1)|skin(1)	2		Breast(137;0.000286)				CTCGATGGTCCGGAAGTAGGA	0.552													T	39636904	C	T	39636904	3	4	19	1	0	0	0	0	1	0	0	0	8472	652	23	1	949	1	KRT35	17	39636904	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	242534	39636904	41558306	2676	16975											
KRT36	8689	broad.mit.edu	37	chr17	39643624	39643624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgtgctgagcctgcagCtcaatctctagcgcgttgac	11	12	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:39643624C>T	uc002hwt.2	-	5	966	c.966G>A	c.(964-966)GAG>GAA	p.E322E		NM_003771	NP_003762	O76013	KRT36_HUMAN	keratin 36	322	Rod.|Coil 2.					intermediate filament	protein binding|structural constituent of epidermis				0		Breast(137;0.000286)				GAGCCTGCAGCTCAATCTCTA	0.647													T	39643624	C	T	39643624	2	4	19	1	0	0	0	0	0	0	0	1	8473	796	28	2		2	KRT36	17	39643624	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	6720	39643624	41551586	2677	16976											
KRT13	3860	broad.mit.edu	37	chr17	39661316	39661316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagggctcaccttgtcccGgagctcttcaatggtcttgt	10	13	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:39661316G>A	uc002hwu.1	-	1	550	c.487C>T	c.(487-489)CGG>TGG	p.R163W	KRT13_uc002hwv.1_Missense_Mutation_p.R163W|KRT13_uc002hww.2_Missense_Mutation_p.R56W|KRT13_uc010wfr.1_Missense_Mutation_p.R56W|KRT13_uc010cxo.2_Missense_Mutation_p.R163W|KRT13_uc002hwx.1_Missense_Mutation_p.R151W	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	163	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|skin(2)|pancreas(1)	5		Breast(137;0.000286)				ACCTTGTCCCGGAGCTCTTCA	0.597													A	39661316	G	A	39661316	3	1	19	1	0	0	0	0	1	0	0	0	8450	1115	39	1	921	1	KRT13	17	39661316	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	17692	39661316	41533894	2678	16977											
KRT16	3868	broad.mit.edu	37	chr17	39767667	39767667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcatctccaggtcagtcCtggccagggtcagctcatcc	10	15	5	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:39767667C>T	uc002hxg.3	-	3	840	c.701G>A	c.(700-702)AGG>AAG	p.R234K	JUP_uc010wfs.1_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	234	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			skin(1)	1		Breast(137;0.000307)				CAGGTCAGTCCTGGCCAGGGT	0.632													T	39767667	C	T	39767667	3	4	19	1	0	0	0	0	1	0	0	0	8453	681	24	4	744	4	KRT16	17	39767667	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	106351	39767667	41427543	2679	16978											
KLHL10	317719	broad.mit.edu	37	chr17	40001736	40001736	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatatcattggggggtttgAtagtgtagactatttcaata	11	3	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:40001736A>G	uc010cxr.2	+	3	1185	c.1043A>G	c.(1042-1044)GAT>GGT	p.D348G	KLHL10_uc010wfv.1_Missense_Mutation_p.D342G|KLHL10_uc010wfw.1_Missense_Mutation_p.D260G	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	348	Kelch 2.					cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)				GGGGGGTTTGATAGTGTAGAC	0.478													G	40001736	A	G	40001736	3	3	19	1	0	0	0	0	1	0	0	0	8366	333	12	3	1053	3	KLHL10	17	40001736	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	234069	40001736	41193474	2680	16979											
ACLY	47	broad.mit.edu	37	chr17	40061887	40061887	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtttgccagctcgttgacAccccctagatcacagatggt	9	12	1	3	rs111680156		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:40061887A>G	uc002hyg.2	-	9	1054	c.891T>C	c.(889-891)GGT>GGC	p.G297G	ACLY_uc002hyh.2_Silent_p.G297G|ACLY_uc002hyi.2_Silent_p.G351G|ACLY_uc010wfx.1_Silent_p.G351G|ACLY_uc010wfy.1_Intron	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	297					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				GCTCGTTGACACCCCCTAGAT	0.582													G	40061887	A	G	40061887	2	3	19	1	0	0	0	0	0	0	0	1	143	146	6	3		3	ACLY	17	40061887	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	60151	40061887	41133323	2681	16980											
ACLY	47	broad.mit.edu	37	chr17	40068710	40068710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgtggcttcagccaggacTtgaccccatccagagtgagg	13	13	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:40068710T>C	uc002hyg.2	-	3	408	c.245A>G	c.(244-246)AAG>AGG	p.K82R	ACLY_uc002hyh.2_Missense_Mutation_p.K82R|ACLY_uc002hyi.2_Missense_Mutation_p.K136R|ACLY_uc010wfx.1_Missense_Mutation_p.K136R|ACLY_uc010wfy.1_Missense_Mutation_p.K82R	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	82					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				CAGCCAGGACTTGACCCCATC	0.542													C	40068710	T	C	40068710	3	2	19	1	0	0	0	0	1	0	0	0	143	1609	56	3	3168	3	ACLY	17	40068710	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	6823	40068710	41126500	2682	16981											
PTRF	284119	broad.mit.edu	37	chr17	40557220	40557220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccgctgcgcttgatacGctctgcgcgggactcctcaa	12	15	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:40557220G>A	uc002hzo.2	-	2	817	c.658C>T	c.(658-660)CGT>TGT	p.R220C	PTRF_uc010wgi.1_Missense_Mutation_p.R202C	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	220	Potential.				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(1)	1		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CGCTTGATACGCTCTGCGCGG	0.652													A	40557220	G	A	40557220	3	1	19	1	0	0	0	0	1	0	0	0	12815	1087	38	1	518	1	PTRF	17	40557220	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	488510	40557220	40637990	2683	16982											
ATP6V0A1	535	broad.mit.edu	37	chr17	40642658	40642658	+	Splice_Site	DEL	A	A	-													accgagagataaatccaggtAaaaaaaagcttgttatcttt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:40642657_40642657TA>T	uc002hzs.3	+	11	1362	c.1195_splice	c.e11+2	p.A399_splice	ATP6V0A1_uc002hzr.3_Splice_Site_p.A392_splice|ATP6V0A1_uc002hzq.3_Splice_Site_p.A392_splice|ATP6V0A1_uc010wgj.2_Splice_Site_p.A349_splice|ATP6V0A1_uc010wgk.2_Splice_Site_p.A349_splice|ATP6V0A1_uc010cyg.3_Splice_Site_p.A38_splice|ATP6V0A1_uc010wgl.2_Splice_Site_p.A251_splice	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	392					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TAAATCCAGGTAAAAAAAAGC	0.388													-	40642658	A	-	40642658	8	5	19	1	0	1	0	1	0	0	1	0	1168	377	13	0		0	ATP6V0A1	17	40642658	Splice_Site	DEL	A	TCGA-BR-4361-01A-01D-1158-08	85438	40642658	40552552	2684	16983											
WNK4	65266	broad.mit.edu	37	chr17	40940731	40940731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgacagagtggttgagtgCcagctacagacccataacag	11	9	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:40940731C>T	uc002ibj.2	+	11	2094	c.2073C>T	c.(2071-2073)TGC>TGT	p.C691C	WNK4_uc010wgx.1_Silent_p.C355C|WNK4_uc002ibk.1_Silent_p.C463C|WNK4_uc010wgy.1_Silent_p.C35C	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	691					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TGGTTGAGTGCCAGCTACAGA	0.532													T	40940731	C	T	40940731	2	4	19	1	0	0	0	0	0	0	0	1	17377	747	26	2		2	WNK4	17	40940731	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	298073	40940731	40254479	2685	16984											
WNK4	65266	broad.mit.edu	37	chr17	40945659	40945659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagatggatttctcagacGgattcgggagattatccagc	13	8	1	3	rs149389156	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:40945659G>A	uc002ibj.2	+	12	2228	c.2207G>A	c.(2206-2208)CGG>CAG	p.R736Q	WNK4_uc010wgx.1_Missense_Mutation_p.R400Q|WNK4_uc002ibk.1_Missense_Mutation_p.R508Q|WNK4_uc010wgy.1_Missense_Mutation_p.R80Q	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	736					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTTCTCAGACGGATTCGGGAG	0.542													A	40945659	G	A	40945659	3	1	19	1	0	0	0	0	1	0	0	0	17377	1116	39	1	2253	1	WNK4	17	40945659	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	4928	40945659	40249551	2686	16985											
PSME3	10197	broad.mit.edu	37	chr17	40989706	40989706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggatgagtgtgaagaagCcttccaaggtaagaggcacc	14	7	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:40989706C>T	uc002ibr.2	+	5	510	c.284C>T	c.(283-285)GCC>GTC	p.A95V	PSME3_uc002ibp.2_Missense_Mutation_p.A34V|PSME3_uc002ibq.2_Missense_Mutation_p.A95V|PSME3_uc002ibs.2_Missense_Mutation_p.A106V|PSME3_uc010whd.1_Missense_Mutation_p.P20S	NM_005789	NP_005780	P61289	PSME3_HUMAN	proteasome activator subunit 3 isoform 1	95					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding				0		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGTGAAGAAGCCTTCCAAGGT	0.512													T	40989706	C	T	40989706	3	4	19	1	0	0	0	0	1	0	0	0	12708	739	26	2	302	2	PSME3	17	40989706	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	44047	40989706	40205504	2687	16986											
IFI35	3430	broad.mit.edu	37	chr17	41165627	41165627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggaggtggcgatgtggaCgttcgggagctactgccagg	18	8	0	0	rs138159139		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:41165627C>T	uc010whj.1	+	5	712	c.516C>T	c.(514-516)GAC>GAT	p.D172D		NM_005533	NP_005524	P80217	IN35_HUMAN	interferon-induced protein 35	170					response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding			ovary(1)	1		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GCGATGTGGACGTTCGGGAGC	0.582													T	41165627	C	T	41165627	2	4	19	1	0	0	0	0	0	0	0	1	7516	535	19	1		1	IFI35	17	41165627	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	175921	41165627	40029583	2688	16987											
ETV4	2118	broad.mit.edu	37	chr17	41610701	41610702	+	Frame_Shift_Ins	INS	-	-	G													acttgatggcgatttgtctgINSggggggtcataggcactgga							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:41610700_41610701T>TG	uc002idw.3	-	6	527_528	c.399_400A>CA	c.(397-402)cccagafs	p.P133fs	ETV4_uc002idv.3_5'Flank|ETV4_uc010wih.2_Intron|ETV4_uc010czh.3_Frame_Shift_Ins_p.P132fs|ETV4_uc010wii.2_Frame_Shift_Ins_p.P94fs|ETV4_uc002idx.3_Frame_Shift_Ins_p.P133fs|ETV4_uc010wij.2_Frame_Shift_Ins_p.P94fs|ETV4_uc002idy.1_Frame_Shift_Ins_p.P94fs	NM_001986	NP_001977	P43268	ETV4_HUMAN	Homo sapiens ets variant 4 (ETV4), transcript variant 1, mRNA.	133					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCGATTTGTCTGGGGGGGTCAT	0.579			T	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"	"Ewing sarcoma, Prostate carcinoma"								G	41610702	-	G	41610701	7	5	19	1	0	1	1	0	0	0	0	0	5281	1335	47	0	1083	0	ETV4	17	41610701	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	445074	41610701	39584509	2689	16988											
SOST	50964	broad.mit.edu	37	chr17	41832758	41832758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggctttggcgctccgggcGcggggccgcggcttccggcc	18	15	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:41832758G>A	uc002iec.1	-	2	641	c.594C>T	c.(592-594)CGC>CGT	p.R198R		NM_025237	NP_079513	Q9BQB4	SOST_HUMAN	sclerostin precursor	198					negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding				0		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		CGCTCCGGGCGCGGGGCCGCG	0.557													A	41832758	G	A	41832758	2	1	19	1	0	0	0	0	0	0	0	1	14938	1074	38	1		1	SOST	17	41832758	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	222057	41832758	39362452	2690	16989											
UBTF	7343	broad.mit.edu	37	chr17	42290225	42290225	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atacaccttcttctcgtgggTgtaccacagctgctgggggg	13	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:42290225T>C	uc002igb.2	-	6	689	c.622A>G	c.(622-624)ACC>GCC	p.T208A	UBTF_uc002igc.2_Missense_Mutation_p.T208A|UBTF_uc010czs.2_Missense_Mutation_p.T208A|UBTF_uc002igd.2_Missense_Mutation_p.T208A|UBTF_uc010czt.2_Missense_Mutation_p.T208A|UBTF_uc002ige.2_Missense_Mutation_p.T208A	NM_014233	NP_055048	P17480	UBF1_HUMAN	upstream binding transcription factor, RNA	208	HMG box 2.				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TTCTCGTGGGTGTACCACAGC	0.617													C	42290225	T	C	42290225	3	2	19	1	0	0	0	0	1	0	0	0	16906	1696	59	3	1732	3	UBTF	17	42290225	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	457467	42290225	38904985	2691	16990											
GRN	2896	broad.mit.edu	37	chr17	42427679	42427679	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtgctgtgttatggtcgatGgctcctgggggtgctgcccc	16	11	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:42427679G>T	uc002igp.1	+	5	652	c.433G>T	c.(433-435)GGC>TGC	p.G145C	GRN_uc002igq.1_3'UTR|GRN_uc002igr.1_5'Flank	NM_002087	NP_002078	P28799	GRN_HUMAN	granulin precursor	145					signal transduction	extracellular space	cytokine activity|growth factor activity			ovary(2)|central_nervous_system(2)|skin(1)	5		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TATGGTCGATGGCTCCTGGGG	0.612													T	42427679	G	T	42427679	3	4	19	1	0	0	0	0	1	0	0	0	6804	1348	47	5	447	5	GRN	17	42427679	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	137454	42427679	38767531	2692	16991											
EFTUD2	9343	broad.mit.edu	37	chr17	42958005	42958005	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggagtgcttttgatgcctAcacctctctgaaaggaacaa	9	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:42958005A>G	uc002ihn.2	-	8	797	c.536T>C	c.(535-537)GTA>GCA	p.V179A	EFTUD2_uc010wje.1_Missense_Mutation_p.V144A|EFTUD2_uc010wjf.1_Missense_Mutation_p.V169A	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	179						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				TTTGATGCCTACACCTCTCTG	0.453													G	42958005	A	G	42958005	3	3	19	1	0	0	0	0	1	0	0	0	4961	391	14	3	2466	3	EFTUD2	17	42958005	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	530326	42958005	38237205	2693	16992											
KIF18B	146909	broad.mit.edu	37	chr17	43006220	43006220	+	Frame_Shift_Del	DEL	C	C	-													cagctcctgagccagaggtgCccccctggccaggcctgaag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:43006219_43006219GC>G	uc010wji.2	-	11	1828	c.1727_1727GC>C	c.(1726-1728)gcafs	p.A576fs	KIF18B_uc002iht.3_Frame_Shift_Del_p.A576fs|KIF18B_uc010wjh.2_Frame_Shift_Del_p.A564fs	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				AGCCAGAGGTGCCCCCCTGGC	0.577													-	43006220	C	-	43006220	7	5	19	1	0	1	0	1	0	0	0	0	8281	739	26	0	860	0	KIF18B	17	43006220	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	48215	43006220	38188990	2694	16993											
C1QL1	10882	broad.mit.edu	37	chr17	43037611	43037611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtatttgttgctgttgccgCcgtgtgctttgcctccatcc	10	12	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:43037611C>T	uc002ihv.2	-	2	950	c.722G>A	c.(721-723)GGC>GAC	p.G241D		NM_006688	NP_006679	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	241	C1q.				locomotory behavior	collagen					0		Prostate(33;0.155)				GCTGTTGCCGCCGTGTGCTTT	0.612													T	43037611	C	T	43037611	3	4	19	1	0	0	0	0	1	0	0	0	1958	739	26	2	58	2	C1QL1	17	43037611	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	31391	43037611	38157599	2695	16994											
ACBD4	79777	broad.mit.edu	37	chr17	43220923	43220923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggctcttccgaatgtttcgGacccaaaagaggtgactgtc	11	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:43220923G>A	uc010wjj.1	+	12	1410	c.941G>A	c.(940-942)GGA>GAA	p.G314E	ACBD4_uc002iie.2_Missense_Mutation_p.G314E|ACBD4_uc002iif.2_Silent_p.R301R|ACBD4_uc002iic.2_Silent_p.R301R|ACBD4_uc010dae.2_Missense_Mutation_p.G236E	NM_001135704	NP_001129176	Q8NC06	ACBD4_HUMAN	acyl-Coenzyme A binding domain containing 4	Error:Variant_position_missing_in_Q8NC06_after_alignment							fatty-acyl-CoA binding			ovary(1)|kidney(1)	2						GAATGTTTCGGACCCAAAAGA	0.597													A	43220923	G	A	43220923	3	1	19	1	0	0	0	0	1	0	0	0	124	1174	41	4	1007	4	ACBD4	17	43220923	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	183312	43220923	37974287	2696	16995											
PLEKHM1	9842	broad.mit.edu	37	chr17	43531503	43531503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagcagttctccacacagGtgtgctcctcgttgctcagg	12	13	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:43531503G>A	uc002ija.2	-	7	1885	c.1715C>T	c.(1714-1716)ACC>ATC	p.T572I	PLEKHM1_uc010wjm.1_Missense_Mutation_p.T544I|PLEKHM1_uc002ijb.2_Missense_Mutation_p.T47I|PLEKHM1_uc010wjn.1_Missense_Mutation_p.T521I|PLEKHM1_uc002ijc.2_Missense_Mutation_p.T26I	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	572	PH 1.				intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)					CTCCACACAGGTGTGCTCCTC	0.632													A	43531503	G	A	43531503	3	1	19	1	0	0	0	0	1	0	0	0	12080	1261	44	4	1479	4	PLEKHM1	17	43531503	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	310580	43531503	37663707	2697	16996											
MAPT	4137	broad.mit.edu	37	chr17	44060714	44060714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggacacagagggcggcCgccacgcccctgagctgctc	14	16	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:44060714C>T	uc002ijr.3	+	6	864	c.544C>T	c.(544-546)CGC>TGC	p.R182C	MAPT_uc010dau.2_Missense_Mutation_p.R182C|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	182					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)				AGAGGGCGGCCGCCACGCCCC	0.697													T	44060714	C	T	44060714	3	4	19	1	0	0	0	0	1	0	0	0	9297	652	23	1	562	1	MAPT	17	44060714	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	529211	44060714	37134496	2698	16997											
C17orf57	124989	broad.mit.edu	37	chr17	45471426	45471426	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attttaaagaattcattgatActatgatgagcaacacggaa	7	5	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:45471426A>G	uc002iln.2	+	16	2173	c.1762A>G	c.(1762-1764)ACT>GCT	p.T588A	C17orf57_uc002ilm.2_Missense_Mutation_p.T492A	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	hypothetical protein LOC124989	588							calcium ion binding			breast(1)|central_nervous_system(1)|skin(1)	3						ATTCATTGATACTATGATGAG	0.264													G	45471426	A	G	45471426	3	3	19	1	0	0	0	0	1	0	0	0	1865	391	14	3	1812	3	C17orf57	17	45471426	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1410712	45471426	35723784	2699	16998											
TBX21	30009	broad.mit.edu	37	chr17	45822603	45822603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagtgattcaggactgggCgaaggagactctaagaggag	15	7	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:45822603C>T	uc002ilv.1	+	6	1690	c.1479C>T	c.(1477-1479)GGC>GGT	p.G493G		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	T-box 21	493					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0						CAGGACTGGGCGAAGGAGACT	0.617													T	45822603	C	T	45822603	2	4	19	1	0	0	0	0	0	0	0	1	15654	755	27	1		1	TBX21	17	45822603	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	351177	45822603	35372607	2700	16999											
HOXB13	10481	broad.mit.edu	37	chr17	46805653	46805653	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggccagggtggctgcctgGgcacagggtttcagcgagct	18	11	1	0	rs150413396		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:46805653G>T	uc002ioa.2	-	1	459	c.303C>A	c.(301-303)GCC>GCA	p.A101A		NM_006361	NP_006352	Q92826	HXB13_HUMAN	homeobox B13	101					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TGGCTGCCTGGGCACAGGGTT	0.672													T	46805653	G	T	46805653	2	4	19	1	0	0	0	0	0	0	0	1	7300	1219	43	5		5	HOXB13	17	46805653	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	983050	46805653	34389557	2701	17000											
NGFR	4804	broad.mit.edu	37	chr17	47589350	47589350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactccacagcgacagtggCatctccgtggacagccagag	11	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:47589350C>T	uc002ioz.3	+	5	1043	c.918C>T	c.(916-918)GGC>GGT	p.G306G		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	306	Cytoplasmic (Potential).				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				ovary(1)|lung(1)	2	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCGACAGTGGCATCTCCGTGG	0.652													T	47589350	C	T	47589350	2	4	19	1	0	0	0	0	0	0	0	1	10396	697	25	2		2	NGFR	17	47589350	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	783697	47589350	33605860	2702	17001											
ITGA3	3675	broad.mit.edu	37	chr17	48145586	48145586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacacagactacctggagaCgggcatgtgccagctgggca	13	12	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:48145586C>T	uc010dbl.2	+	4	1045	c.581C>T	c.(580-582)ACG>ATG	p.T194M	ITGA3_uc010dbm.2_Missense_Mutation_p.T194M	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	194	FG-GAP 3.|Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						TACCTGGAGACGGGCATGTGC	0.592													T	48145586	C	T	48145586	3	4	19	1	0	0	0	0	1	0	0	0	7877	536	19	1	595	1	ITGA3	17	48145586	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	556236	48145586	33049624	2703	17002											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602													-	48433967	C	-	48433967	7	5	19	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	288381	48433967	32761243	2704	17003											
XYLT2	64132	broad.mit.edu	37	chr17	48434595	48434595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgcagtgaccaggccagCcggctccagagtctggaggt	17	12	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:48434595C>T	uc002iqo.2	+	9	2032	c.1923C>T	c.(1921-1923)AGC>AGT	p.S641S	XYLT2_uc010dbo.2_Intron	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	641	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			pancreas(1)	1	Breast(11;7.18e-19)					ACCAGGCCAGCCGGCTCCAGA	0.652													T	48434595	C	T	48434595	2	4	19	1	0	0	0	0	0	0	0	1	17461	738	26	2		2	XYLT2	17	48434595	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	628	48434595	32760615	2705	17004											
EME1	146956	broad.mit.edu	37	chr17	48453452	48453452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacagatggaaggtgggggCcagctcctaggagcactgca	15	9	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:48453452C>T	uc002iqs.1	+	3	874	c.801C>T	c.(799-801)GGC>GGT	p.G267G	MRPL27_uc002iqq.2_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.1_Silent_p.G267G	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	essential meiotic endonuclease 1 homolog 1	267					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding				0	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			AAGGTGGGGGCCAGCTCCTAG	0.577								Direct_reversal_of_damage|Homologous_recombination					T	48453452	C	T	48453452	2	4	19	1	0	0	0	0	0	0	0	1	5088	726	26	2		2	EME1	17	48453452	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	18857	48453452	32741758	2706	17005											
HLF	3131	broad.mit.edu	37	chr17	53398143	53398143	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgttcctggagaaggagaActcggccctccgccaggagg	14	13	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:53398143A>G	uc002iug.1	+	4	1316	c.791A>G	c.(790-792)AAC>AGC	p.N264S	HLF_uc010dce.1_Missense_Mutation_p.N179S|HLF_uc002iuh.2_Missense_Mutation_p.N179S|HLF_uc010wni.1_Missense_Mutation_p.N211S	NM_002126	NP_002117	Q16534	HLF_HUMAN	hepatic leukemia factor	264	Leucine-zipper.				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						GAGAAGGAGAACTCGGCCCTC	0.607			T	TCF3	ALL								G	53398143	A	G	53398143	3	3	19	1	0	0	0	0	1	0	0	0	7214	43	2	3	805	3	HLF	17	53398143	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	4944691	53398143	27797067	2707	17006											
MMD	23531	broad.mit.edu	37	chr17	53491524	53491524	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtactcactgcgtgtgtgtaAcagttagcagcatgttcata	10	8	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:53491524A>G	uc002iui.2	-	2	381	c.96T>C	c.(94-96)TGT>TGC	p.C32C		NM_012329	NP_036461	Q15546	PAQRB_HUMAN	monocyte to macrophage	32	Helical; (Potential).				cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity				0						CGTGTGTGTAACAGTTAGCAG	0.458													G	53491524	A	G	53491524	2	3	19	1	0	0	0	0	0	0	0	1	9643	41	2	3		3	MMD	17	53491524	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	93381	53491524	27703686	2708	17007											
SCPEP1	59342	broad.mit.edu	37	chr17	55079432	55079432	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagaactgcctaaattcagtCagctgaagtggaaggccctg	11	10	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:55079432C>A	uc002iuv.3	+	12	1239	c.1186C>A	c.(1186-1188)CAG>AAG	p.Q396K	SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Missense_Mutation_p.Q346K	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1 precursor	396					proteolysis	extracellular region	serine-type carboxypeptidase activity			skin(1)	1	Breast(9;2.86e-08)					TAAATTCAGTCAGCTGAAGTG	0.483													A	55079432	C	A	55079432	3	1	19	1	0	0	0	0	1	0	0	0	13935	827	29	5	1232	5	SCPEP1	17	55079432	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1587908	55079432	26115778	2709	17008											
VEZF1	7716	broad.mit.edu	37	chr17	56056587	56056588	+	In_Frame_Ins	INS	-	-	TGT													ccctggccagcttgtcacatINSgttgttgttgttgttgttgc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:56056586_56056587A>ATGT	uc002ivf.1	-	4	1207_1208	c.1064_1065T>ACAT	c.(1063-1065)cat>cACAT	p.H355H	VEZF1_uc010dcn.1_In_Frame_Ins_p.H205H	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.	355					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						AGCTTGTCACAtgttgttgttg	0.475													TGT	56056588	-	TGT	56056587	7	5	19	1	0	1	1	0	0	0	0	0	17152	1464	51	0	509	0	VEZF1	17	56056587	In_Frame_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	977155	56056587	25138623	2710	17009											
LPO	4025	broad.mit.edu	37	chr17	56326949	56326949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcctgcgctgggcgccGccaacagggctctggcgcgc	17	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:56326949G>A	uc002ivt.2	+	6	782	c.466G>A	c.(466-468)GCC>ACC	p.A156T	LPO_uc010dco.2_Missense_Mutation_p.A156T|LPO_uc010wnr.1_Missense_Mutation_p.A73T|LPO_uc010wns.1_Missense_Mutation_p.A97T|LPO_uc010dcp.2_Missense_Mutation_p.A73T|LPO_uc010dcq.2_5'UTR|LPO_uc010dcr.2_5'Flank	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	156					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2						GCTGGGCGCCGCCAACAGGGC	0.711													A	56326949	G	A	56326949	3	1	19	1	0	0	0	0	1	0	0	0	8922	1087	38	1	484	1	LPO	17	56326949	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	270362	56326949	24868261	2711	17010											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	19	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	108212	56435161	24760049	2712	17011											
TUBD1	51174	broad.mit.edu	37	chr17	57958272	57958272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctcaccagttccataagGccaaataatctgattcattt	4	11	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:57958272G>A	uc002ixw.1	-	4	798	c.520C>T	c.(520-522)CCT>TCT	p.P174S	TUBD1_uc010ddf.1_Missense_Mutation_p.P174S|TUBD1_uc010ddg.1_Missense_Mutation_p.P139S|TUBD1_uc010ddh.1_Missense_Mutation_p.P55S|TUBD1_uc010wok.1_Missense_Mutation_p.P174S|TUBD1_uc002ixx.1_Missense_Mutation_p.P174S|TUBD1_uc010wol.1_Intron|TUBD1_uc010ddi.1_Intron	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	delta-tubulin	174					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			GTTCCATAAGGCCAAATAATC	0.363													A	57958272	G	A	57958272	3	1	19	1	0	0	0	0	1	0	0	0	16759	1203	42	2	865	2	TUBD1	17	57958272	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1523111	57958272	23236938	2713	17012											
USP32	84669	broad.mit.edu	37	chr17	58313509	58313509	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaactcacgtatttgacaTattctttccactgttgccac	4	12	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:58313509T>C	uc002iyo.1	-	12	1515	c.1229A>G	c.(1228-1230)TAT>TGT	p.Y410C	USP32_uc002iyn.1_Missense_Mutation_p.Y80C	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	410	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GTATTTGACATATTCTTTCCA	0.423													C	58313509	T	C	58313509	3	2	19	1	0	0	0	0	1	0	0	0	17060	1406	49	3	3677	3	USP32	17	58313509	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	355237	58313509	22881701	2714	17013											
TBX4	9496	broad.mit.edu	37	chr17	59560871	59560871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtggagaactggactgaCggatgactctcacgtctcct	11	11	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:59560871C>T	uc002izi.2	+	8	1677	c.1632C>T	c.(1630-1632)GAC>GAT	p.D544D	TBX4_uc010ddo.2_Silent_p.D545D|TBX4_uc010woy.1_Silent_p.D545D	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	544					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						ACTGGACTGACGGATGACTCT	0.507													T	59560871	C	T	59560871	2	4	19	1	0	0	0	0	0	0	0	1	15657	535	19	1		1	TBX4	17	59560871	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1247362	59560871	21634339	2715	17014											
INTS2	57508	broad.mit.edu	37	chr17	59968953	59968953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctggattagatttcgacGcaggagtaagtatagaattt	10	5	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:59968953G>A	uc002izn.2	-	14	1896	c.1820C>T	c.(1819-1821)GCG>GTG	p.A607V	INTS2_uc002izm.2_Missense_Mutation_p.A599V	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	607					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3						AGATTTCGACGCAGGAGTAAG	0.378													A	59968953	G	A	59968953	3	1	19	1	0	0	0	0	1	0	0	0	7778	1087	38	1	1842	1	INTS2	17	59968953	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	408082	59968953	21226257	2716	17015											
MED13	9969	broad.mit.edu	37	chr17	60030383	60030383	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagaatgtacaggagaaccAgttggagaagcaggaaggat	16	4	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:60030383A>G	uc002izo.2	-	27	6137	c.6060T>C	c.(6058-6060)ACT>ACC	p.T2020T		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2020					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						CAGGAGAACCAGTTGGAGAAG	0.403													G	60030383	A	G	60030383	2	3	19	1	0	0	0	0	0	0	0	1	9430	175	7	3		3	MED13	17	60030383	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	61430	60030383	21164827	2717	17016											
MED13	9969	broad.mit.edu	37	chr17	60043998	60043998	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagaaacaggtctatgttgAcctaatcgacaggactacaa	9	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:60043998A>G	uc002izo.2	-	19	4283	c.4206T>C	c.(4204-4206)GGT>GGC	p.G1402G		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1402					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						GTCTATGTTGACCTAATCGAC	0.333													G	60043998	A	G	60043998	2	3	19	1	0	0	0	0	0	0	0	1	9430	262	10	3		3	MED13	17	60043998	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	13615	60043998	21151212	2718	17017											
MED13	9969	broad.mit.edu	37	chr17	60072701	60072701	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taattcatcagaaacttttaAaggtttcttacattgcacca	4	8	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:60072701A>G	uc002izo.2	-	10	2070	c.1993T>C	c.(1993-1995)TTA>CTA	p.L665L		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	665					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						GAAACTTTTAAAGGTTTCTTA	0.279													G	60072701	A	G	60072701	2	3	19	1	0	0	0	0	0	0	0	1	9430	11	1	3		3	MED13	17	60072701	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	28703	60072701	21122509	2719	17018											
MRC2	9902	broad.mit.edu	37	chr17	60765963	60765963	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagcaggagcctttgatgTatgccaactgggcacctggg	15	9	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:60765963T>C	uc002jad.2	+	22	3565	c.3163T>C	c.(3163-3165)TAT>CAT	p.Y1055H	MRC2_uc002jae.2_Missense_Mutation_p.Y126H|MRC2_uc002jaf.2_5'UTR	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1055	Extracellular (Potential).|C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GCCTTTGATGTATGCCAACTG	0.617													C	60765963	T	C	60765963	3	2	19	1	0	0	0	0	1	0	0	0	9758	1638	57	3	3249	3	MRC2	17	60765963	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	693262	60765963	20429247	2720	17019											
TANC2	26115	broad.mit.edu	37	chr17	61466882	61466882	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtacctgagcattgtggtgCtgctgtgcaagaaacgggcc	15	9	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:61466882C>G	uc002jal.3	+	15	2829	c.2806C>G	c.(2806-2808)CTG>GTG	p.L936V	TANC2_uc010wpe.1_Missense_Mutation_p.L846V|TANC2_uc002jan.1_Missense_Mutation_p.L87V|TANC2_uc002jao.3_Missense_Mutation_p.L37V|TANC2_uc002jam.1_Missense_Mutation_p.L303V	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	936	ANK 3.						binding			ovary(2)	2						CATTGTGGTGCTGCTGTGCAA	0.532													G	61466882	C	G	61466882	3	3	19	1	0	0	0	0	1	0	0	0	15542	796	28	5	2864	5	TANC2	17	61466882	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	700919	61466882	19728328	2721	17020											
GH1	2688	broad.mit.edu	37	chr17	61995762	61995762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgatgggcgcggagcatagCgttgtcaaaaagcctggata	14	8	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:61995762C>T	uc002jdj.2	-	2	177	c.115G>A	c.(115-117)GCT>ACT	p.A39T	GH1_uc002jdi.2_Missense_Mutation_p.A39T|GH1_uc002jdk.2_Missense_Mutation_p.A39T|GH1_uc002jdl.2_Missense_Mutation_p.A39T|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Missense_Mutation_p.A39T	NM_000515	NP_000506	P01241	SOMA_HUMAN	growth hormone 1 isoform 1	39					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding				0						CGGAGCATAGCGTTGTCAAAA	0.597													T	61995762	C	T	61995762	3	4	19	1	0	0	0	0	1	0	0	0	6367	768	27	1	554	1	GH1	17	61995762	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	528880	61995762	19199448	2722	17021											
SCN4A	6329	broad.mit.edu	37	chr17	62018681	62018681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgatcttgttgggcttgGcaatcctcagcggttcctgc	12	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:62018681G>A	uc002jds.1	-	24	5038	c.4961C>T	c.(4960-4962)GCC>GTC	p.A1654V		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1654					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GTTGGGCTTGGCAATCCTCAG	0.577													A	62018681	G	A	62018681	3	1	19	1	0	0	0	0	1	0	0	0	13920	1203	42	2	553	2	SCN4A	17	62018681	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	22919	62018681	19176529	2723	17022											
AXIN2	8313	broad.mit.edu	37	chr17	63532585	63532586	+	Frame_Shift_Ins	INS	-	-	C													gcgggggtgcccgctgttgcINSccccccacagatggtgccgg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:63532584_63532585G>GC	uc002jfi.3	-	7	2283_2284	c.1994_1995C>GC	c.(1993-1995)ggcfs	p.G665fs	AXIN2_uc002jfh.3_Frame_Shift_Ins_p.G600fs	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	665					Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCGCTGTTGCCCCCCCACAG	0.658									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				C	63532586	-	C	63532585	7	5	19	1	0	1	1	0	0	0	0	0	1237	739	26	0	553	0	AXIN2	17	63532585	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	1513904	63532585	17662625	2724	17023											
BPTF	2186	broad.mit.edu	37	chr17	65942395	65942395	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagatagaaattaagcgtgAacacaccctccaagcttcta	6	11	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:65942395A>G	uc002jgf.2	+	21	7632	c.7571A>G	c.(7570-7572)GAA>GGA	p.E2524G	BPTF_uc002jge.2_Intron|BPTF_uc002jgg.2_Intron|BPTF_uc002jgh.2_5'Flank	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2650					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATTAAGCGTGAACACACCCTC	0.418													G	65942395	A	G	65942395	3	3	19	1	0	0	0	0	1	0	0	0	1495	246	9	3	8039	3	BPTF	17	65942395	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2409810	65942395	15252815	2725	17024											
ABCA6	23460	broad.mit.edu	37	chr17	67125767	67125767	+	Frame_Shift_Del	DEL	A	A	-													ttaccaaagataagccatatAaaaaaaagagtataaatatg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:67125766_67125766TA>T	uc002jhw.1	-	6	1093	c.918_918TA>A	c.(916-918)ttafs	p.L306fs		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	306					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATAAGCCATATAAAAAAAAGA	0.303													-	67125767	A	-	67125767	7	5	19	1	0	1	0	1	0	0	0	0	36	372	13	0	4068	0	ABCA6	17	67125767	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	1183372	67125767	14069443	2726	17025											
ABCA10	10349	broad.mit.edu	37	chr17	67161157	67161157	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggaaggtatgaaaatcAtgcacaaaattaagttgagt	10	3	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:67161157A>G	uc010dfa.1	-	27	4109	c.3230T>C	c.(3229-3231)ATG>ACG	p.M1077T	ABCA10_uc010wqs.1_Missense_Mutation_p.M69T|ABCA10_uc010wqt.1_RNA	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	1077	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					TATGAAAATCATGCACAAAAT	0.343													G	67161157	A	G	67161157	3	3	19	1	0	0	0	0	1	0	0	0	29	217	8	3	1457	3	ABCA10	17	67161157	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	35390	67161157	14034053	2727	17026											
ABCA5	23461	broad.mit.edu	37	chr17	67287435	67287435	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtggccaagtaaggcagTaatctgaccctcatatatgt	9	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:67287435T>C	uc002jif.2	-	11	2746	c.1528A>G	c.(1528-1530)ACT>GCT	p.T510A	ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.T510A|ABCA5_uc002jih.2_Missense_Mutation_p.T510A|ABCA5_uc010dfe.2_Missense_Mutation_p.T510A	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	510	ABC transporter 1.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					AGTAAGGCAGTAATCTGACCC	0.363													C	67287435	T	C	67287435	3	2	19	1	0	0	0	0	1	0	0	0	35	1638	57	3	3512	3	ABCA5	17	67287435	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	126278	67287435	13907775	2728	17027											
SOX9	6662	broad.mit.edu	37	chr17	70118922	70118922	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagcggctgcgcgtgcagcAcaagaaggaccacccggatt	15	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:70118922A>G	uc002jiw.2	+	2	866	c.494A>G	c.(493-495)CAC>CGC	p.H165R	uc002jiv.2_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	transcription factor SOX9	165	HMG box.		H -> Q (in CMD1; residual DNA binding and transactivation of regulated genes).		cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription				0		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CGCGTGCAGCACAAGAAGGAC	0.662													G	70118922	A	G	70118922	3	3	19	1	0	0	0	0	1	0	0	0	14958	159	6	3	500	3	SOX9	17	70118922	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2831487	70118922	11076288	2729	17028											
COG1	9382	broad.mit.edu	37	chr17	71196745	71196745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgggatcaccaacctgctcAtgtacgtgaagagcatgaag	11	9	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:71196745A>G	uc002jjg.2	+	6	1147	c.1111A>G	c.(1111-1113)ATG>GTG	p.M371V	COG1_uc002jjh.2_Missense_Mutation_p.M371V|COG1_uc002jjf.1_Missense_Mutation_p.M371V	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	371					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)			CAACCTGCTCATGTACGTGAA	0.473													G	71196745	A	G	71196745	3	3	19	1	0	0	0	0	1	0	0	0	3657	217	8	3	1133	3	COG1	17	71196745	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1077823	71196745	9998465	2730	17029											
DNAI2	64446	broad.mit.edu	37	chr17	72278019	72278019	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaagcagtgcaatttctcGgaccgccaggccgagctgaa	14	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:72278019G>A	uc002jkf.2	+	2	162	c.63G>A	c.(61-63)TCG>TCA	p.S21S	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	21					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						GCAATTTCTCGGACCGCCAGG	0.622									Kartagener_syndrome				A	72278019	G	A	72278019	2	1	19	1	0	0	0	0	0	0	0	1	4610	1103	39	1		1	DNAI2	17	72278019	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1081274	72278019	8917191	2731	17030											
DNAI2	64446	broad.mit.edu	37	chr17	72301516	72301516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccgaagaacttcctgacGgttggcgactggacagcccg	12	13	0	2	rs142571722	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:72301516G>A	uc002jkf.2	+	9	1245	c.1146G>A	c.(1144-1146)ACG>ACA	p.T382T	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_3'UTR|DNAI2_uc002jki.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	382	WD 4.				cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						ACTTCCTGACGGTTGGCGACT	0.577									Kartagener_syndrome				A	72301516	G	A	72301516	2	1	19	1	0	0	0	0	0	0	0	1	4610	1103	39	1		1	DNAI2	17	72301516	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	23497	72301516	8893694	2732	17031											
GRIN2C	2905	broad.mit.edu	37	chr17	72838813	72838813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaaaatggcaggtgggCgtgggcgtgcaggcagacgt	18	9	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:72838813C>T	uc002jlt.1	-	13	3619	c.3463G>A	c.(3463-3465)GCC>ACC	p.A1155T	GRIN2C_uc010wrh.1_RNA	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	1155	Cytoplasmic (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GGCAGGTGGGCGTGGGCGTGC	0.706													T	72838813	C	T	72838813	3	4	19	1	0	0	0	0	1	0	0	0	6781	768	27	1	242	1	GRIN2C	17	72838813	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	537297	72838813	8356397	2733	17032											
KIAA0195	9772	broad.mit.edu	37	chr17	73491063	73491063	+	Frame_Shift_Del	DEL	C	C	-													gacatgcctggctccgagatCcccccctccagccccagcca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:73491062_73491062TC>T	uc010wsa.2	+	18	2897	c.2705_2705TC>T	c.(2704-2706)atcfs	p.I902fs	KIAA0195_uc002jnz.4_Frame_Shift_Del_p.I892fs|KIAA0195_uc010wsb.2_Frame_Shift_Del_p.I532fs|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	892					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCTCCGAGATCCCCCCCTCC	0.612													-	73491063	C	-	73491063	7	5	19	1	0	1	0	1	0	0	0	0	8160	845	30	0	2750	0	KIAA0195	17	73491063	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	652250	73491063	7704147	2734	17033											
LLGL2	3993	broad.mit.edu	37	chr17	73565397	73565397	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacctggctgtggcaggcacGgcagggcaggtagcaggctg	18	10	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:73565397G>T	uc002joh.2	+	14	1726	c.1572G>T	c.(1570-1572)ACG>ACT	p.T524T	LLGL2_uc002joi.2_Silent_p.T524T|LLGL2_uc010dgg.1_Silent_p.T524T|LLGL2_uc002joj.2_Silent_p.T513T|LLGL2_uc010wsd.1_Silent_p.T151T	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	524	WD 9.				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGGCAGGCACGGCAGGGCAGG	0.647													T	73565397	G	T	73565397	2	4	19	1	0	0	0	0	0	0	0	1	8834	1103	39	5		5	LLGL2	17	73565397	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	74334	73565397	7629813	2735	17034											
RECQL5	9400	broad.mit.edu	37	chr17	73625122	73625122	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccatcgggggtccctgaAccccctcacaggaggggcag	16	14	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:73625122A>G	uc010dgl.2	-	16	2537	c.2381T>C	c.(2380-2382)GTT>GCT	p.V794A	RECQL5_uc010dgk.2_Missense_Mutation_p.V767A|RECQL5_uc002jot.3_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	794					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGGTCCCTGAACCCCCTCACA	0.652								Other_identified_genes_with_known_or_suspected_DNA_repair_function					G	73625122	A	G	73625122	3	3	19	1	0	0	0	0	1	0	0	0	13203	43	2	3	614	3	RECQL5	17	73625122	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	59725	73625122	7570088	2736	17035											
GALK1	2584	broad.mit.edu	37	chr17	73759466	73759466	+	Frame_Shift_Del	DEL	C	C	-													atgctgagctggacaggccaCcccccaggggcactgagctg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:73759466delC	uc010wsi.1	-	3	473	c.410delG	c.(409-411)GGTfs	p.G137fs	GALK1_uc002jpk.2_Frame_Shift_Del_p.G137fs|GALK1_uc010wsj.1_Frame_Shift_Del_p.G137fs	NM_000154	NP_000145	P51570	GALK1_HUMAN	galactokinase 1	137	ATP (Potential).				galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding				0	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGACAGGCCACCCCCCAGGGG	0.652													-	73759466	C	-	73759466	7	5	19	1	0	1	0	1	0	0	0	0	6203	507	18	0	792	0	GALK1	17	73759466	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	134344	73759466	7435744	2737	17036											
UNK	85451	broad.mit.edu	37	chr17	73780852	73780852	+	Frame_Shift_Del	DEL	G	G	-													agcaacccctgctgccgtgtGgggggtcttcacgttctcgt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:73780851_73780851TG>T	uc002jpm.3	+	1	118	c.118_118TG>T	c.(118-120)tggfs	p.W40fs	UNK_uc021udd.1_5'UTR|MIR4738_uc021udc.1_5'Flank|UNK_uc002jpn.3_Non-coding_Transcript|UNK_uc002jpo.3_Non-coding_Transcript	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA.	0							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCTGCCGTGTGGGGGGTCTT	0.622													-	73780852	G	-	73780852	7	5	19	1	0	1	0	1	0	0	0	0	16997	1357	47	0	125	0	UNK	17	73780852	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	21386	73780852	7414358	2738	17037											
FBF1	85302	broad.mit.edu	37	chr17	73910955	73910955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcccactcggcagccaggCgccgccgctcctccccgcac	10	24	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:73910955C>T	uc002jqc.2	-	24	2916	c.2642G>A	c.(2641-2643)CGC>CAC	p.R881H	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.R872H|FBF1_uc002jqb.2_RNA|FBF1_uc010dgr.1_Missense_Mutation_p.R192H	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	881											0						GGCAGCCAGGCGCCGCCGCTC	0.687													T	73910955	C	T	73910955	3	4	19	1	0	0	0	0	1	0	0	0	5695	768	27	1	783	1	FBF1	17	73910955	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	130103	73910955	7284255	2739	17038											
EVPL	2125	broad.mit.edu	37	chr17	74018092	74018092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgcccaggctctgcccGcgccacgacgccgccttctg	12	19	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:74018092G>A	uc002jqi.2	-	7	891	c.663C>T	c.(661-663)CGC>CGT	p.R221R	EVPL_uc010wss.1_Silent_p.R221R|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	221	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						GGCTCTGCCCGCGCCACGACG	0.701													A	74018092	G	A	74018092	2	1	19	1	0	0	0	0	0	0	0	1	5292	1074	38	1		1	EVPL	17	74018092	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	107137	74018092	7177118	2740	17039											
CYGB	114757	broad.mit.edu	37	chr17	74527136	74527136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggctgtagatgaggccaCgcagcttggcccaggctctc	14	13	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:74527136C>T	uc002jru.1	-	3	622	c.464G>A	c.(463-465)CGT>CAT	p.R155H	CYGB_uc002jrv.1_Missense_Mutation_p.R90H|PRCD_uc002jrw.1_Intron	NM_134268	NP_599030	Q8WWM9	CYGB_HUMAN	cytoglobin	155	Globin.				response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity				0						GATGAGGCCACGCAGCTTGGC	0.642													T	74527136	C	T	74527136	3	4	19	1	0	0	0	0	1	0	0	0	4139	536	19	1	116	1	CYGB	17	74527136	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	509044	74527136	6668074	2741	17040											
SEC14L1	6397	broad.mit.edu	37	chr17	75202391	75202391	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaagcgctgctgcggaTcatcgaggtggtggaggcca	17	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:75202391T>A	uc002jto.2	+	12	1517	c.1250T>A	c.(1249-1251)ATC>AAC	p.I417N	SEC14L1_uc010dhc.2_Missense_Mutation_p.I417N|SEC14L1_uc010wth.1_Missense_Mutation_p.I417N|SEC14L1_uc002jtm.2_Missense_Mutation_p.I417N|SEC14L1_uc010wti.1_Missense_Mutation_p.I383N|SEC14L1_uc010wtj.1_5'Flank|SEC14L1_uc002jtr.2_5'Flank	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	417	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						CTGCTGCGGATCATCGAGGTG	0.607													A	75202391	T	A	75202391	3	1	19	1	0	0	0	0	1	0	0	0	13981	1435	50	5	1288	5	SEC14L1	17	75202391	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	675255	75202391	5992819	2742	17041											
SEC14L1	6397	broad.mit.edu	37	chr17	75202481	75202481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttcctgtgctctggacgcTggtgggttgagatgcttttt	13	7	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:75202481T>C	uc002jto.2	+	12	1607	c.1340T>C	c.(1339-1341)CTG>CCG	p.L447P	SEC14L1_uc010dhc.2_Missense_Mutation_p.L447P|SEC14L1_uc010wth.1_Missense_Mutation_p.L447P|SEC14L1_uc002jtm.2_Missense_Mutation_p.L447P|SEC14L1_uc010wti.1_Missense_Mutation_p.L413P|SEC14L1_uc010wtj.1_5'Flank|SEC14L1_uc002jtr.2_5'Flank	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	447	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						CTCTGGACGCTGGTGGGTTGA	0.517													C	75202481	T	C	75202481	3	2	19	1	0	0	0	0	1	0	0	0	13981	1594	55	3	1378	3	SEC14L1	17	75202481	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	90	75202481	5992729	2743	17042											
SEPT9	10801	broad.mit.edu	37	chr17	75493432	75493432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtgagtttgcctacctgCgggaccttctcatcaggtga	11	11	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:75493432C>T	uc002jts.3	+	11	1735	c.1609C>T	c.(1609-1611)CGG>TGG	p.R537W	SEPT9_uc010wtk.1_Missense_Mutation_p.R518W|SEPT9_uc002jtt.3_Missense_Mutation_p.R373W|SEPT9_uc002jtu.3_Missense_Mutation_p.R519W|SEPT9_uc002jtv.2_Missense_Mutation_p.R530W|SEPT9_uc002jtw.2_Missense_Mutation_p.R373W|SEPT9_uc010wtl.1_Missense_Mutation_p.R313W|SEPT9_uc002jty.3_Missense_Mutation_p.R286W|SEPT9_uc010wtm.1_Missense_Mutation_p.R286W|SEPT9_uc010wtn.1_Missense_Mutation_p.R286W|SEPT9_uc010dhd.2_Missense_Mutation_p.R425W	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	septin 9 isoform a	537					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding			breast(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(99;0.153)			TGCCTACCTGCGGGACCTTCT	0.607													T	75493432	C	T	75493432	3	4	19	1	0	0	0	0	1	0	0	0	14071	759	27	1	2125	1	SEPT9	17	75493432	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	290951	75493432	5701778	2744	17043											
CYTH1	9267	broad.mit.edu	37	chr17	76696475	76696475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaaacgcctccatcatcCggtcgatcttctgggcctct	10	15	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:76696475C>T	uc002jvw.2	-	7	559	c.488G>A	c.(487-489)CGG>CAG	p.R163Q	CYTH1_uc010wtw.1_Missense_Mutation_p.R104Q|CYTH1_uc010wtx.1_Missense_Mutation_p.R104Q	NM_017456	NP_059430	Q15438	CYH1_HUMAN	cytohesin 1 isoform 2	163	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						CTCCATCATCCGGTCGATCTT	0.507													T	76696475	C	T	76696475	3	4	19	1	0	0	0	0	1	0	0	0	4203	652	23	1	736	1	CYTH1	17	76696475	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1203043	76696475	4498735	2745	17044											
CYTH1	9267	broad.mit.edu	37	chr17	76705763	76705763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagctcctgttttctcCgtcggatgttctccagttct	8	14	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:76705763C>T	uc002jvw.2	-	2	145	c.74G>A	c.(73-75)CGG>CAG	p.R25Q	CYTH1_uc010wtw.1_5'UTR|CYTH1_uc010wtx.1_5'UTR	NM_017456	NP_059430	Q15438	CYH1_HUMAN	cytohesin 1 isoform 2	25	Potential.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						CTGTTTTCTCCGTCGGATGTT	0.438													T	76705763	C	T	76705763	3	4	19	1	0	0	0	0	1	0	0	0	4203	652	23	1	1170	1	CYTH1	17	76705763	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	9288	76705763	4489447	2746	17045											
CANT1	124583	broad.mit.edu	37	chr17	76989793	76989793	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtcggtgttggggatgaActtgaaggacgagaagccgt	17	6	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:76989793A>G	uc002jwn.2	-	6	1484	c.1045T>C	c.(1045-1047)TTC>CTC	p.F349L	CANT1_uc002jwk.2_Missense_Mutation_p.F349L|CANT1_uc002jwj.2_Missense_Mutation_p.F349L|CANT1_uc002jwl.2_Intron|CANT1_uc002jwm.1_RNA	NM_001159772	NP_001153244	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	349	Lumenal (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity				0			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TTGGGGATGAACTTGAAGGAC	0.642			T	ETV4	prostate								G	76989793	A	G	76989793	3	3	19	1	0	0	0	0	1	0	0	0	2617	43	2	3	164	3	CANT1	17	76989793	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	284030	76989793	4205417	2747	17046											
CCDC40	55036	broad.mit.edu	37	chr17	78055787	78055787	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagctgcaggagcacaTgacctccaacaagaccacca	10	13	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:78055787T>C	uc010dht.2	+	12	1946	c.1919T>C	c.(1918-1920)ATG>ACG	p.M640T	CCDC40_uc002jxm.3_Missense_Mutation_p.M423T|CCDC40_uc002jxn.3_Missense_Mutation_p.M36T	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	640					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CAGGAGCACATGACCTCCAAC	0.607													C	78055787	T	C	78055787	3	2	19	1	0	0	0	0	1	0	0	0	2812	1464	51	3	1965	3	CCDC40	17	78055787	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1065994	78055787	3139423	2748	17047											
CARD14	79092	broad.mit.edu	37	chr17	78172264	78172264	+	Frame_Shift_Del	DEL	G	G	-													gtcaccatgctggcgttccaGggggatgcattgctggagca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:78172263_78172263AG>A	uc002jxw.1	+	12	1918	c.1724_1724AG>A	c.(1723-1725)cagfs	p.Q575fs	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Frame_Shift_Del_p.Q575fs|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_Frame_Shift_Del_p.Q338fs	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	575	PDZ.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGCGTTCCAGGGGGATGCA	0.692													-	78172264	G	-	78172264	7	5	19	1	0	1	0	1	0	0	0	0	2646	991	35	0	1771	0	CARD14	17	78172264	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	116477	78172264	3022946	2749	17048											
SLC26A11	284129	broad.mit.edu	37	chr17	78222037	78222037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcatgctcctgcactctgCagccaggcctgagaccaagg	11	15	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:78222037C>T	uc002jyb.1	+	14	1672	c.1403C>T	c.(1402-1404)GCA>GTA	p.A468V	SLC26A11_uc002jyc.1_Missense_Mutation_p.A468V|SLC26A11_uc002jyd.1_Missense_Mutation_p.A468V|SLC26A11_uc010dhv.1_Missense_Mutation_p.A468V	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	solute carrier family 26, member 11	468	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity				0	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGCACTCTGCAGCCAGGCCT	0.642													T	78222037	C	T	78222037	3	4	19	1	0	0	0	0	1	0	0	0	14516	710	25	2	1449	2	SLC26A11	17	78222037	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	49773	78222037	2973173	2750	17049											
RNF213	57674	broad.mit.edu	37	chr17	78317675	78317675	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggtgcagactggaatttggGtgtttcttttcaagctcctc	11	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:78317675G>C	uc002jyh.1	+	3	644	c.421G>C	c.(421-423)GTG>CTG	p.V141L		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGGAATTTGGGTGTTTCTTTT	0.428													C	78317675	G	C	78317675	3	2	19	1	0	0	0	0	1	0	0	0	13477	1261	44	5	6627	5	RNF213	17	78317675	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	95638	78317675	2877535	2751	17050											
RNF213	57674	broad.mit.edu	37	chr17	78338303	78338303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctaggaaccgagagccgcGtccccgagttacaggggctg	14	13	0	1	rs147900479	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:78338303G>A	uc002jyh.1	+	17	6263	c.6040G>A	c.(6040-6042)GTC>ATC	p.V2014I	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.V396I	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGAGAGCCGCGTCCCCGAGTT	0.587													A	78338303	G	A	78338303	3	1	19	1	0	0	0	0	1	0	0	0	13477	1145	40	1	12302	1	RNF213	17	78338303	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	20628	78338303	2856907	2752	17051											
RNF213	57674	broad.mit.edu	37	chr17	78346449	78346449	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctgccaacgaggcctcGgttgaatacctgcaagaggt	13	11	0	2	rs141681070	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:78346449G>A	uc002jyh.1	+	23	7108	c.6885G>A	c.(6883-6885)TCG>TCA	p.S2295S	uc002jyi.1_Intron|RNF213_uc010dhw.1_Silent_p.S677S	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACGAGGCCTCGGTTGAATACC	0.577													A	78346449	G	A	78346449	2	1	19	1	0	0	0	0	0	0	0	1	13477	1103	39	1		1	RNF213	17	78346449	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	8146	78346449	2848761	2753	17052											
RNF213	57674	broad.mit.edu	37	chr17	78360232	78360232	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccaaggaaaacaacaggTttgtgcacgagccaccagga	10	11	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:78360232T>C	uc002jyh.1	+	37	9162	c.8939_splice	c.e37+2	p.S2980_splice	uc002jyi.1_Intron|RNF213_uc010dhx.1_Splice_Site	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213											ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAACAACAGGTTTGTGCACGA	0.557													C	78360232	T	C	78360232	5	2	19	1	0	0	0	0	0	0	1	0	13477	1739	60	3	15283	3	RNF213	17	78360232	Splice_Site	SNP	T	TCGA-BR-4361-01A-01D-1158-08	13783	78360232	2834978	2754	17053											
C17orf90	339229	broad.mit.edu	37	chr17	79632587	79632587	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaagcctctggcagcAgtccgggctggagaaccggc	15	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:79632587A>G	uc002kba.2	-	2	99	c.88T>C	c.(88-90)TGC>CGC	p.C30R	C17orf90_uc002kbb.2_3'UTR|CCDC137_uc002kbc.3_5'Flank|CCDC137_uc002kbd.2_5'Flank	NM_001039842	NP_001034931	Q5BKU9	CQ090_HUMAN	hypothetical protein LOC339229	30											0	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CTCTGGCAGCAGTCCGGGCTG	0.612													G	79632587	A	G	79632587	3	3	19	1	0	0	0	0	1	0	0	0	1891	188	7	3	359	3	C17orf90	17	79632587	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1272355	79632587	1562623	2755	17054											
FASN	2194	broad.mit.edu	37	chr17	80049217	80049217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcggtggcggggacagccGcgatgtcgttcagcatgctc	17	11	1	0	rs143812680		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:80049217G>A	uc002kdu.2	-	9	1490	c.1373C>T	c.(1372-1374)GCG>GTG	p.A458V	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	458	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGGGACAGCCGCGATGTCGTT	0.716													A	80049217	G	A	80049217	3	1	19	1	0	0	0	0	1	0	0	0	5683	1087	38	1	6302	1	FASN	17	80049217	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	416630	80049217	1145993	2756	17055											
CCDC57	284001	broad.mit.edu	37	chr17	80059697	80059697	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggggtggcaatgcctgccTgcatcttgacgggcctcctg	14	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:80059697T>C	uc002kdx.1	-	17	2646	c.2609A>G	c.(2608-2610)CAG>CGG	p.Q870R		NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	871										ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AATGCCTGCCTGCATCTTGAC	0.597													C	80059697	T	C	80059697	3	2	19	1	0	0	0	0	1	0	0	0	2827	1580	55	3	142	3	CCDC57	17	80059697	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	10480	80059697	1135513	2757	17056											
RAB40B	10966	broad.mit.edu	37	chr17	80615771	80615771	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgtttctggtgcagtTtttgggggggctctgggggg	20	6	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:80615771T>G	uc002kft.2	-	6	931	c.805A>C	c.(805-807)AAC>CAC	p.N269H	RAB40B_uc002kfs.2_RNA	NM_006822	NP_006813	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	269					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)	1	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CTGGTGCAGTTTTTGGGGGGG	0.587													G	80615771	T	G	80615771	3	3	19	1	0	0	0	0	1	0	0	0	12941	1841	64	5	35	5	RAB40B	17	80615771	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	556074	80615771	579439	2758	17057											
THOC1	9984	broad.mit.edu	37	chr18	216529	216529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaccatattttcaagatatTctggtaaacttttaaactgc	4	7	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:216529T>C	uc002kkj.3	-	19	1599	c.1559A>G	c.(1558-1560)GAA>GGA	p.E520G	THOC1_uc002kkk.3_RNA|THOC1_uc002kkh.3_Missense_Mutation_p.E144G	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	THO complex 1	520					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			ovary(1)	1		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTCAAGATATTCTGGTAAACT	0.383													C	216529	T	C	216529	3	2	19	1	0	0	0	0	1	0	0	0	15861	1783	62	3	426	3	THOC1	18	216529	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08		216529	77860719	2759	17058											
CLUL1	27098	broad.mit.edu	37	chr18	627251	627251	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttgactgtggatgtgaattCtctctttaacaggagtttta	10	5	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:627251C>A	uc002kkp.2	+	5	723	c.578C>A	c.(577-579)TCT>TAT	p.S193Y	CLUL1_uc010wys.1_Missense_Mutation_p.S245Y|CLUL1_uc002kkq.2_Missense_Mutation_p.S193Y	NM_014410	NP_055225	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal) precursor	193					cell death	extracellular region				ovary(2)	2						GATGTGAATTCTCTCTTTAAC	0.408													A	627251	C	A	627251	3	1	19	1	0	0	0	0	1	0	0	0	3570	913	32	5	592	5	CLUL1	18	627251	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	410722	627251	77449997	2760	17059											
EMILIN2	84034	broad.mit.edu	37	chr18	2913316	2913316	+	Frame_Shift_Del	DEL	G	G	-													cagtcaacgtcgtggtgactGggggcaagctggctcacaca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:2913315_2913315TG>T	uc002kln.3	+	7	3234	c.3075_3075TG>T	c.(3073-3075)actfs	p.T1025fs		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	1025	C1q.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TCGTGGTGACTGGGGGCAAGC	0.567													-	2913316	G	-	2913316	7	5	19	1	0	1	0	1	0	0	0	0	5094	1348	47	0	3106	0	EMILIN2	18	2913316	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	2286065	2913316	75163932	2761	17060											
LPIN2	9663	broad.mit.edu	37	chr18	2920395	2920395	+	Frame_Shift_Del	DEL	G	G	-													attctgctccttactgagaaGggggaacacatgctccacga							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:2920394_2920394AG>A	uc002klo.3	-	19	2827	c.2588_2588CT>T	c.(2587-2589)cttfs	p.L863fs		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	863					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CTTACTGAGAAGGGGGAACAC	0.537													-	2920395	G	-	2920395	7	5	19	1	0	1	0	1	0	0	0	0	8919	1000	35	0	107	0	LPIN2	18	2920395	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	7079	2920395	75156853	2762	17061											
LPIN2	9663	broad.mit.edu	37	chr18	2920878	2920878	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgtgtaggcatagacaTcctgcagaagaaaatagcaa	10	7	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:2920878T>C	uc002klo.2	-	19	2683	c.2444A>G	c.(2443-2445)GAT>GGT	p.D815G		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	lipin 2	815	C-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			ovary(1)|skin(1)	2				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GGCATAGACATCCTGCAGAAG	0.463													C	2920878	T	C	2920878	3	2	19	1	0	0	0	0	1	0	0	0	8919	1449	50	3	254	3	LPIN2	18	2920878	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	483	2920878	75156370	2763	17062											
L3MBTL4	91133	broad.mit.edu	37	chr18	6239801	6239801	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatggtcgccacacacaccAaggaagggttcttcctgtcc	9	14	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:6239801A>G	uc002kmz.3	-	9	783	c.623T>C	c.(622-624)TTG>TCG	p.L208S	L3MBTL4_uc010dkt.2_Missense_Mutation_p.L208S|L3MBTL4_uc002kmy.3_Missense_Mutation_p.L46S	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4	208	MBT 2.				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)				CACACACACCAAGGAAGGGTT	0.468													G	6239801	A	G	6239801	3	3	19	1	0	0	0	0	1	0	0	0	8594	131	5	3	1296	3	L3MBTL4	18	6239801	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3318923	6239801	71837447	2764	17063											
ARHGAP28	79822	broad.mit.edu	37	chr18	6873731	6873731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtcctcctggacggtgaccGaaagaaagaccctggagtga	13	10	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:6873731G>A	uc010wzi.1	+	8	876	c.638G>A	c.(637-639)CGA>CAA	p.R213Q	ARHGAP28_uc002knc.2_Missense_Mutation_p.R338Q|ARHGAP28_uc002knd.2_Missense_Mutation_p.R231Q|ARHGAP28_uc002kne.2_Missense_Mutation_p.R231Q|ARHGAP28_uc002knf.2_Missense_Mutation_p.R222Q			B4DXL2	B4DXL2_HUMAN	SubName: Full=Putative uncharacterized protein ARHGAP28;	213					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)				GACGGTGACCGAAAGAAAGAC	0.418													A	6873731	G	A	6873731	3	1	19	1	0	0	0	0	1	0	0	0	877	1058	37	1	718	1	ARHGAP28	18	6873731	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	633930	6873731	71203517	2765	17064											
PTPRM	5797	broad.mit.edu	37	chr18	8244194	8244194	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcattcatggacacgcacaaTctgaatgggagatgtaagtg	11	7	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:8244194T>A	uc002knn.3	+	15	2942	c.2439T>A	c.(2437-2439)AAT>AAA	p.N813K	PTPRM_uc010dkv.2_Missense_Mutation_p.N813K|PTPRM_uc010wzl.1_Missense_Mutation_p.N600K	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	813	Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				ACACGCACAATCTGAATGGGA	0.448													A	8244194	T	A	8244194	3	1	19	1	0	0	0	0	1	0	0	0	12806	1432	50	5	2497	5	PTPRM	18	8244194	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1370463	8244194	69833054	2766	17065											
RAB12	201475	broad.mit.edu	37	chr18	8609919	8609919	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggagcgcttcaccgacgAcaccttctgcgaggcctgca	12	14	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:8609919A>T	uc002knp.2	+	1	477	c.194A>T	c.(193-195)GAC>GTC	p.D65V	RAB12_uc002kno.1_Missense_Mutation_p.D161V	NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	65					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding				0						TTCACCGACGACACCTTCTGC	0.701													T	8609919	A	T	8609919	3	4	19	1	0	0	0	0	1	0	0	0	12898	275	10	5	196	5	RAB12	18	8609919	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	365725	8609919	69467329	2767	17066											
KIAA0802	23255	broad.mit.edu	37	chr18	8784835	8784835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaggagctgggcccagaCttgcaggtaagggggctcgt	19	8	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:8784835C>T	uc002knr.2	+	6	1867	c.1725C>T	c.(1723-1725)GAC>GAT	p.D575D	KIAA0802_uc002knq.2_Silent_p.D575D|KIAA0802_uc010dkw.1_Silent_p.D413D	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	926											0						TGGGCCCAGACTTGCAGGTAA	0.647													T	8784835	C	T	8784835	2	4	19	1	0	0	0	0	0	0	0	1	8194	564	20	4		4	KIAA0802	18	8784835	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	174916	8784835	69292413	2768	17067											
TXNDC2	84203	broad.mit.edu	37	chr18	9887067	9887067	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggaggacctccccaagtcCtcagaagaagccatccagcc	9	15	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:9887067C>A	uc002koi.3	+	2	1040	c.591C>A	c.(589-591)TCC>TCA	p.S197S	TXNDC2_uc010wzq.1_Intron|TXNDC2_uc002koh.3_Silent_p.S130S	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN	thioredoxin domain-containing 2 isoform 2	197	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.|6.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			ovary(1)|pancreas(1)	2						TCCCCAAGTCCTCAGAAGAAG	0.567													A	9887067	C	A	9887067	2	1	19	1	0	0	0	0	0	0	0	1	16794	668	24	5		5	TXNDC2	18	9887067	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1102232	9887067	68190181	2769	17068											
GNAL	2774	broad.mit.edu	37	chr18	11752365	11752365	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtcgcaggagccgcacaCgtctccaactctctattgct	9	16	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:11752365C>T	uc010dkz.2	+	2	179	c.-67C>T	c.(-69--65)CACGT>CATGT		GNAL_uc002kqc.2_Intron|GNAL_uc002kqd.2_Translation_Start_Site	NM_001142339	NP_001135811	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein),						activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						GAGCCGCACACGTCTCCAACT	0.562													T	11752365	C	T	11752365	1	4	19	1	0	0	0	0	0	0	0	0	6507	551	19	1		1	GNAL	18	11752365	Translation_Start_Site	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1865298	11752365	66324883	2770	17069											
MC2R	4158	broad.mit.edu	37	chr18	13884985	13884985	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgggaacagcgacgtgAaggtgatcactgtgggcaca	15	9	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:13884985A>G	uc002ksp.1	-	2	710	c.533T>C	c.(532-534)TTC>TCC	p.F178S		NM_000529	NP_000520	Q01718	ACTHR_HUMAN	melanocortin 2 receptor	178	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			ovary(4)|skin(1)	5					Corticotropin(DB01285)|Cosyntropin(DB01284)	CAGCGACGTGAAGGTGATCAC	0.582													G	13884985	A	G	13884985	3	3	19	1	0	0	0	0	1	0	0	0	9364	246	9	3	364	3	MC2R	18	13884985	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2132620	13884985	64192263	2771	17070											
ROCK1	6093	broad.mit.edu	37	chr18	18588031	18588031	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaatttaccttcattttctAcatttcttctcttctcattt	0	11	5	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:18588031A>G	uc002kte.2	-	14	2476	c.1535T>C	c.(1534-1536)GTA>GCA	p.V512A		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	512	Interaction with FHOD1.|Potential.|REM.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					TTCATTTTCTACATTTCTTCT	0.323													G	18588031	A	G	18588031	3	3	19	1	0	0	0	0	1	0	0	0	13517	391	14	3	2609	3	ROCK1	18	18588031	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	4703046	18588031	59489217	2772	17071											
LAMA3	3909	broad.mit.edu	37	chr18	21441613	21441613	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctctccctctttccagtttGtggatatgctgggctggcac	10	12	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:21441613G>C	uc002kuq.2	+	35	4512	c.4426G>C	c.(4426-4428)GTG>CTG	p.V1476L	LAMA3_uc002kur.2_Missense_Mutation_p.V1476L	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1476	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTCCAGTTTGTGGATATGCT	0.557													C	21441613	G	C	21441613	3	2	19	1	0	0	0	0	1	0	0	0	8607	1377	48	5	4564	5	LAMA3	18	21441613	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2853582	21441613	56635635	2773	17072											
TTC39C	125488	broad.mit.edu	37	chr18	21660762	21660762	+	Frame_Shift_Del	DEL	T	T	-													tgttagctttggatatggccTttttcacctttgcatatcca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:21660762delT	uc002kuw.2	+	5	1126	c.674delT	c.(673-675)CTTfs	p.L225fs	TTC39C_uc002kuu.2_Frame_Shift_Del_p.L164fs	NM_001135993	NP_001129465	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C isoform 1	225							binding			ovary(1)	1						GGATATGGCCTTTTTCACCTT	0.478													-	21660762	T	-	21660762	7	5	19	1	0	1	0	1	0	0	0	0	16706	1609	56	0	692	0	TTC39C	18	21660762	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	219149	21660762	56416486	2774	17073											
ZNF521	25925	broad.mit.edu	37	chr18	22805224	22805224	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccacaaatgtcgcagccGtacataggctcagaggtgtc	11	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:22805224G>A	uc002kvk.2	-	4	2905	c.2658C>T	c.(2656-2658)TAC>TAT	p.Y886Y	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.Y886Y|ZNF521_uc002kvl.2_Silent_p.Y666Y	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	886	C2H2-type 21; degenerate.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGTCGCAGCCGTACATAGGCT	0.532			T	PAX5	ALL								A	22805224	G	A	22805224	2	1	19	1	0	0	0	0	0	0	0	1	17962	1140	40	1		1	ZNF521	18	22805224	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1144462	22805224	55272024	2775	17074											
TAF4B	6875	broad.mit.edu	37	chr18	23866258	23866258	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgtctctggaacagcagTaacactgtcccttccagcag	9	12	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:23866258T>C	uc002kvu.3	+	7	1874	c.1385T>C	c.(1384-1386)GTA>GCA	p.V462A	TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Missense_Mutation_p.V462A	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding	462					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)|skin(1)	3	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			GGAACAGCAGTAACACTGTCC	0.468													C	23866258	T	C	23866258	3	2	19	1	0	0	0	0	1	0	0	0	15524	1638	57	3	1411	3	TAF4B	18	23866258	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1061034	23866258	54210990	2776	17075											
CDH2	1000	broad.mit.edu	37	chr18	25593645	25593645	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagccatattcggatactatAccttcactgactcctcagtt	5	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:25593645A>G	uc002kwg.2	-	3	858	c.399_splice	c.e3+1	p.K133_splice	CDH2_uc010xbn.1_Splice_Site_p.K102_splice	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein						adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4						CGGATACTATACCTTCACTGA	0.408													G	25593645	A	G	25593645	5	3	19	1	0	0	0	0	0	0	1	0	3105	405	14	3	2375	3	CDH2	18	25593645	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1727387	25593645	52483603	2777	17076											
DSG3	1830	broad.mit.edu	37	chr18	29044269	29044269	+	Frame_Shift_Del	DEL	A	A	-													tgcaaaaaggcataagtagcAaaaaattggtggattatatc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:29044269delA	uc002kws.2	+	9	1304	c.1195delA	c.(1195-1197)AAAfs	p.K399fs		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	399	Cadherin 4.|Extracellular (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CATAAGTAGCAAAAAATTGGT	0.378													-	29044269	A	-	29044269	7	5	19	1	0	1	0	1	0	0	0	0	4778	131	5	0	1229	0	DSG3	18	29044269	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	3450624	29044269	49032979	2778	17077											
MCART2	147407	broad.mit.edu	37	chr18	29340013	29340013	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgagcactgtgagtcgtTgcggtaggcagatgctcctt	13	8	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:29340013T>C	uc002kxa.2	-	1	831	c.612A>G	c.(610-612)GCA>GCG	p.A204A		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	mitochondrial carrier triple repeat 2	204					transport	integral to membrane|mitochondrial inner membrane				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(10;0.0539)			TGTGAGTCGTTGCGGTAGGCA	0.448													C	29340013	T	C	29340013	2	2	19	1	0	0	0	0	0	0	0	1	9370	1799	63	3		3	MCART2	18	29340013	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	295744	29340013	48737235	2779	17078											
KIAA1012	22878	broad.mit.edu	37	chr18	29429584	29429584	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcatttttgaatcaatctcAcagcatcctctgttgactgt	6	10	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:29429584A>G	uc002kxc.3	-	25	4044	c.3680T>C	c.(3679-3681)GTG>GCG	p.V1227A	KIAA1012_uc002kxb.3_Missense_Mutation_p.V1173A|KIAA1012_uc002kxd.3_RNA	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	1227					ER to Golgi vesicle-mediated transport	cis-Golgi network					0						AATCAATCTCACAGCATCCTC	0.358													G	29429584	A	G	29429584	3	3	19	1	0	0	0	0	1	0	0	0	8204	159	6	3	647	3	KIAA1012	18	29429584	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	89571	29429584	48647664	2780	17079											
KLHL14	57565	broad.mit.edu	37	chr18	30260415	30260415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcactgctcccgcatgagcCgccagaggctgtggcaaaga	13	13	0	3	rs145852832	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:30260415C>T	uc002kxm.1	-	6	1774	c.1386G>A	c.(1384-1386)GCG>GCA	p.A462A	KLHL14_uc010dmd.1_Missense_Mutation_p.R10Q	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	462	Kelch 3.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						CCGCATGAGCCGCCAGAGGCT	0.468													T	30260415	C	T	30260415	2	4	19	1	0	0	0	0	0	0	0	1	8370	639	23	1		1	KLHL14	18	30260415	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	830831	30260415	47816833	2781	17080											
KLHL14	57565	broad.mit.edu	37	chr18	30349862	30349862	+	Frame_Shift_Del	DEL	G	G	-													agcgccagctccgactccacGgggggcggcagcgagtccag					rs147661052		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:30349862delG	uc002kxm.1	-	2	1081	c.693delC	c.(691-693)CCCfs	p.P231fs		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	231	BACK.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						CCGACTCCACGGGGGGCGGCA	0.642													-	30349862	G	-	30349862	7	5	19	1	0	1	0	1	0	0	0	0	8370	1103	39	0	1225	0	KLHL14	18	30349862	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	89447	30349862	47727386	2782	17081											
MOCOS	55034	broad.mit.edu	37	chr18	33836952	33836952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacttcctggtacaatggCcaccctttctctggtgaatg	8	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:33836952C>T	uc002kzq.3	+	12	2209	c.2186C>T	c.(2185-2187)GCC>GTC	p.A729V		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	729	MOSC.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	GGTACAATGGCCACCCTTTCT	0.413													T	33836952	C	T	33836952	3	4	19	1	0	0	0	0	1	0	0	0	9689	739	26	2	2232	2	MOCOS	18	33836952	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3487090	33836952	44240296	2783	17082											
MOCOS	55034	broad.mit.edu	37	chr18	33848583	33848583	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatctcaggtgctccctgtgTtgaaagagaatgtggaaggt	14	6	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:33848583T>C	uc002kzq.3	+	15	2625	c.2602T>C	c.(2602-2604)TTG>CTG	p.L868L		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	868					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	GCTCCCTGTGTTGAAAGAGAA	0.403													C	33848583	T	C	33848583	2	2	19	1	0	0	0	0	0	0	0	1	9689	1722	60	3		3	MOCOS	18	33848583	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	11631	33848583	44228665	2784	17083											
FHOD3	80206	broad.mit.edu	37	chr18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-													gcgatgagaccacggagccaCcccccagtgggtgccgggac							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:34205516delC	uc002kzt.1	+	10	1097	c.1000delC	c.(1000-1002)CCCfs	p.P334fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P334fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P334fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P159fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P87fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	334	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACGGAGCCACCCCCCAGTGG	0.677													-	34205516	C	-	34205516	7	5	19	1	0	1	0	1	0	0	0	0	5883	507	18	0	1038	0	FHOD3	18	34205516	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	356933	34205516	43871732	2785	17084											
KIAA1328	57536	broad.mit.edu	37	chr18	34753044	34753044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attacagcacaccacctcccGgtaagcttcagagattcttt	6	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:34753044G>A	uc002kzz.2	+	9	1545	c.1523G>A	c.(1522-1524)CGG>CAG	p.R508Q	KIAA1328_uc002lab.2_Missense_Mutation_p.R260H|KIAA1328_uc002lac.1_Missense_Mutation_p.R367Q|KIAA1328_uc010dnc.1_RNA	NM_020776	NP_065827	Q86T90	K1328_HUMAN	hypothetical protein LOC57536	508										central_nervous_system(1)	1				COAD - Colon adenocarcinoma(74;0.195)		ACCACCTCCCGGTAAGCTTCA	0.388													A	34753044	G	A	34753044	3	1	19	1	0	0	0	0	1	0	0	0	8225	1130	39	1	1557	1	KIAA1328	18	34753044	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	547528	34753044	43324204	2786	17085											
CELF4	56853	broad.mit.edu	37	chr18	34854302	34854302	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtaggcgccgtaggccccgAaagggatggccatggggttg	18	10	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:34854302A>G	uc002lae.2	-	6	1169	c.773T>C	c.(772-774)TTC>TCC	p.F258S	CELF4_uc010dnd.1_Missense_Mutation_p.F257S|CELF4_uc002lag.2_Missense_Mutation_p.F248S|CELF4_uc002laf.2_Missense_Mutation_p.F253S|CELF4_uc002lai.2_Missense_Mutation_p.F243S|CELF4_uc002lah.1_5'Flank|CELF4_uc002laj.1_Silent_p.F93F	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	258	Sufficient for RNA-binding and MSE- dependent splicing activity.|Necessary for TNNT2 exon 5 inclusion.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						GTAGGCCCCGAAAGGGATGGC	0.637													G	34854302	A	G	34854302	3	3	19	1	0	0	0	0	1	0	0	0	3218	246	9	3	715	3	CELF4	18	34854302	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	101258	34854302	43222946	2787	17086											
KIAA0427	9811	broad.mit.edu	37	chr18	46385820	46385820	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccctcggagtccatgctgAcccggtcgctgctcctagag	12	16	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:46385820A>G	uc002ldc.2	+	12	1972	c.1687A>G	c.(1687-1689)ACC>GCC	p.T563A	KIAA0427_uc002ldd.2_Missense_Mutation_p.T565A|KIAA0427_uc002lde.3_Missense_Mutation_p.T192A	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	563	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						GTCCATGCTGACCCGGTCGCT	0.602													G	46385820	A	G	46385820	3	3	19	1	0	0	0	0	1	0	0	0	8176	275	10	3	1735	3	KIAA0427	18	46385820	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	11531518	46385820	31691428	2788	17087											
CXXC1	30827	broad.mit.edu	37	chr18	47812265	47812265	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccacacatgcgggctgAccgtttgatctgctgctgct	10	14	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:47812265A>T	uc002leq.3	-	5	1226	c.493T>A	c.(493-495)TCA>ACA	p.S165T	CXXC1_uc002lep.3_Missense_Mutation_p.S22T|CXXC1_uc002ler.3_Missense_Mutation_p.S165T|CXXC1_uc010doy.2_Missense_Mutation_p.S165T|CXXC1_uc002les.2_Missense_Mutation_p.S165T	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	165	CXXC-type.				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						ATGCGGGCTGACCGTTTGATc	0.483													T	47812265	A	T	47812265	3	4	19	1	0	0	0	0	1	0	0	0	4097	275	10	5	1533	5	CXXC1	18	47812265	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1426445	47812265	30264983	2789	17088											
DCC	1630	broad.mit.edu	37	chr18	50985668	50985668	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacctccgaccccctgatctTtggatccatcatgaagaaat	7	13	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:50985668T>C	uc002lfe.1	+	24	4046	c.3459T>C	c.(3457-3459)CTT>CTC	p.L1153L	DCC_uc010dpf.1_Silent_p.L788L	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1153	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCCCTGATCTTTGGATCCATC	0.498													C	50985668	T	C	50985668	2	2	19	1	0	0	0	0	0	0	0	1	4282	1828	64	3		3	DCC	18	50985668	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	3173403	50985668	27091580	2790	17089											
DCC	1630	broad.mit.edu	37	chr18	50985691	50985691	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatccatcatgaagaaatggAgatgaaaaatattgaaaagc	9	4	1	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:50985691A>G	uc002lfe.1	+	24	4069	c.3482A>G	c.(3481-3483)GAG>GGG	p.E1161G	DCC_uc010dpf.1_Missense_Mutation_p.E796G	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1161	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAAGAAATGGAGATGAAAAAT	0.522													G	50985691	A	G	50985691	3	3	19	1	0	0	0	0	1	0	0	0	4282	304	11	3	3576	3	DCC	18	50985691	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	23	50985691	27091557	2791	17090											
DCC	1630	broad.mit.edu	37	chr18	51025784	51025784	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacagcttgtgttcgaccaActcacccactccgcagcttt	6	17	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:51025784A>G	uc002lfe.1	+	27	4602	c.4015A>G	c.(4015-4017)ACT>GCT	p.T1339A	DCC_uc010dpf.1_Missense_Mutation_p.T972A	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1339	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTTCGACCAACTCACCCACT	0.522													G	51025784	A	G	51025784	3	3	19	1	0	0	0	0	1	0	0	0	4282	43	2	3	4121	3	DCC	18	51025784	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	40093	51025784	27051464	2792	17091											
ONECUT2	9480	broad.mit.edu	37	chr18	55103632	55103632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagcctgtccccgctggcCgccacgccgctgggcaacgg	14	18	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:55103632C>T	uc002lgo.2	+	1	716	c.684C>T	c.(682-684)GCC>GCT	p.A228A		NM_004852	NP_004843	O95948	ONEC2_HUMAN	one cut domain, family member 2	228					organ morphogenesis	nucleus	sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CCCCGCTGGCCGCCACGCCGC	0.672													T	55103632	C	T	55103632	2	4	19	1	0	0	0	0	0	0	0	1	10869	639	23	1		1	ONECUT2	18	55103632	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	4077848	55103632	22973616	2793	17092											
ATP8B1	5205	broad.mit.edu	37	chr18	55322536	55322536	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccttatgtaagaccatcGgccatgcaccagcagtagcc	8	14	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:55322536G>A	uc002lgw.2	-	22	2821	c.2821C>T	c.(2821-2823)CGA>TGA	p.R941*	uc002lgu.1_Intron|uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	941	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				TAAGACCATCGGCCATGCACC	0.433									Byler_disease				A	55322536	G	A	55322536	4	1	19	1	0	0	0	0	0	1	0	0	1194	1124	39	1	958	1	ATP8B1	18	55322536	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	218904	55322536	22754712	2794	17093											
ATP8B1	5205	broad.mit.edu	37	chr18	55355665	55355665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttctagcttttgcgggtGtgtccttctcagcatagtac	11	9	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:55355665G>A	uc002lgw.2	-	12	1295	c.1295C>T	c.(1294-1296)ACA>ATA	p.T432I	uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	432	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				TTTTGCGGGTGTGTCCTTCTC	0.458									Byler_disease				A	55355665	G	A	55355665	3	1	19	1	0	0	0	0	1	0	0	0	1194	1377	48	4	2524	4	ATP8B1	18	55355665	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	33129	55355665	22721583	2795	17094											
ATP8B1	5205	broad.mit.edu	37	chr18	55365040	55365041	+	Frame_Shift_Ins	INS	-	-	T													acttactggaacaaaatcatINStttttttcagacgaatgacg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:55365039_55365040A>AT	uc002lgw.3	-	6	734_735	c.614_615T>AT	c.(613-615)aatfs	p.N205fs	LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	205					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GAACAAAATCATTTTTTTTCAG	0.386													T	55365041	-	T	55365040	7	5	19	1	0	1	1	0	0	0	0	0	1194	1493	52	0	3229	0	ATP8B1	18	55365040	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	9375	55365040	22712208	2796	17095											
NEDD4L	23327	broad.mit.edu	37	chr18	55990515	55990515	+	Frame_Shift_Del	DEL	A	A	-													ttgaaaatggcctatatgccAaaaaatggaggtcaagatga							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:55990515delA	uc002lgy.2	+	8	736	c.462delA	c.(460-462)CCAfs	p.P154fs	NEDD4L_uc002lgz.2_Frame_Shift_Del_p.P154fs|NEDD4L_uc002lgx.2_Frame_Shift_Del_p.P154fs|NEDD4L_uc010xee.1_Frame_Shift_Del_p.P33fs|NEDD4L_uc002lhc.2_Frame_Shift_Del_p.P146fs|NEDD4L_uc002lhd.2_Frame_Shift_Del_p.P33fs|NEDD4L_uc002lhb.2_Frame_Shift_Del_p.P33fs|NEDD4L_uc002lhe.2_Frame_Shift_Del_p.P146fs|NEDD4L_uc002lhf.2_Frame_Shift_Del_p.P33fs|NEDD4L_uc002lhg.2_Frame_Shift_Del_p.P33fs|NEDD4L_uc002lhh.2_Frame_Shift_Del_p.P33fs|NEDD4L_uc010dpm.1_Frame_Shift_Del_p.P5fs	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally	154					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			lung(4)	4						CCTATATGCCAAAAAATGGAG	0.433													-	55990515	A	-	55990515	7	5	19	1	0	1	0	1	0	0	0	0	10311	117	5	0	520	0	NEDD4L	18	55990515	Frame_Shift_Del	DEL	A	TCGA-BR-4361-01A-01D-1158-08	625475	55990515	22086733	2797	17096											
ZNF532	55205	broad.mit.edu	37	chr18	56651514	56651514	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccaagcaaaatggggctgGggaagataaccaacaggaga	14	7	0	2	rs150751424		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:56651514G>T	uc002lho.2	+	11	4269	c.3722G>T	c.(3721-3723)GGG>GTG	p.G1241V	ZNF532_uc002lhp.2_Missense_Mutation_p.G1239V|ZNF532_uc010xeg.1_Missense_Mutation_p.G1239V|ZNF532_uc002lhr.2_Missense_Mutation_p.G1239V|ZNF532_uc002lhs.2_Missense_Mutation_p.G1239V|ZNF532_uc010xeh.1_Missense_Mutation_p.G329V	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						AATGGGGCTGGGGAAGATAAC	0.512													T	56651514	G	T	56651514	3	4	19	1	0	0	0	0	1	0	0	0	17969	1232	43	5	3752	5	ZNF532	18	56651514	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	660999	56651514	21425734	2798	17097											
RAX	30062	broad.mit.edu	37	chr18	56939715	56939715	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtacgtggtgaaagtcgTgcggttccgccgatgctttt	14	9	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:56939715T>C	uc002lhx.2	-	2	608	c.421A>G	c.(421-423)ACG>GCG	p.T141A	RAX_uc010dpp.2_Intron	NM_013435	NP_038463	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	141	Homeobox.				visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		GTGAAAGTCGTGCGGTTCCGC	0.652													C	56939715	T	C	56939715	3	2	19	1	0	0	0	0	1	0	0	0	13096	1696	59	3	627	3	RAX	18	56939715	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	288201	56939715	21137533	2799	17098											
LMAN1	3998	broad.mit.edu	37	chr18	56998753	56998753	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtagttctgggcattTcggcttttcatttgatggct	13	6	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:56998753T>C	uc002lhz.2	-	12	1425	c.1393A>G	c.(1393-1395)AAA>GAA	p.K465E		NM_005570	NP_005561	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1 precursor	465	Lumenal (Potential).				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			skin(1)	1		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TCTGGGCATTTCGGCTTTTCA	0.328													C	56998753	T	C	56998753	3	2	19	1	0	0	0	0	1	0	0	0	8836	1792	62	3	147	3	LMAN1	18	56998753	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	59038	56998753	21078495	2800	17099											
MC4R	4160	broad.mit.edu	37	chr18	58038674	58038674	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagttcttgactccggagTgcataaatcagaggatcgat	10	9	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:58038674T>C	uc002lie.1	-	1	1328	c.909A>G	c.(907-909)GCA>GCG	p.A303A		NM_005912	NP_005903	P32245	MC4R_HUMAN	melanocortin 4 receptor	303	Helical; Name=7; (Potential).				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			lung(1)	1		Colorectal(73;0.0946)				GACTCCGGAGTGCATAAATCA	0.418													C	58038674	T	C	58038674	2	2	19	1	0	0	0	0	0	0	0	1	9366	1683	59	3		3	MC4R	18	58038674	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1039921	58038674	20038574	2801	17100											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60017167	60017167	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcataaagtttgtgatAcaggtgagcccgtcctgtca	11	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:60017167A>G	uc002lin.2	+	3	318	c.280A>G	c.(280-282)ACA>GCA	p.T94A	TNFRSF11A_uc010dpv.2_Missense_Mutation_p.T94A	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily,	94	TNFR-Cys 2.|Extracellular (Potential).				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(2)|lung(1)	3		Colorectal(73;0.188)				AGTTTGTGATACAGGTGAGCC	0.443									Paget_Disease_of_Bone				G	60017167	A	G	60017167	3	3	19	1	0	0	0	0	1	0	0	0	16281	391	14	3	290	3	TNFRSF11A	18	60017167	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1978493	60017167	18060081	2802	17101											
PHLPP1	23239	broad.mit.edu	37	chr18	60630645	60630645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagccttctacaggagacgCttccggagccccagctgtat	10	14	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:60630645C>T	uc002lis.2	+	15	2142	c.1964C>T	c.(1963-1965)GCT>GTT	p.A655V		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	1167	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0						ACAGGAGACGCTTCCGGAGCC	0.443													T	60630645	C	T	60630645	3	4	19	1	0	0	0	0	1	0	0	0	11854	797	28	2	3554	2	PHLPP1	18	60630645	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	613478	60630645	17446603	2803	17102											
BCL2	596	broad.mit.edu	37	chr18	60985517	60985517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaccaccgtggcaaagcgtCcccgcgcggtgaagggcgtc	14	16	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:60985517C>T	uc002lit.1	-	2	876	c.383G>A	c.(382-384)GGA>GAA	p.G128E	BCL2_uc002liu.1_Missense_Mutation_p.G128E|BCL2_uc002liv.1_Missense_Mutation_p.G128E	NM_000633	NP_000624	P10415	BCL2_HUMAN	B-cell lymphoma protein 2 alpha isoform	128					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)	1		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	GGCAAAGCGTCCCCGCGCGGT	0.667			T	IGH@	NHL|CLL								T	60985517	C	T	60985517	3	4	19	1	0	0	0	0	1	0	0	0	1365	855	30	4	377	4	BCL2	18	60985517	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	354872	60985517	17091731	2804	17103											
VPS4B	9525	broad.mit.edu	37	chr18	61067315	61067315	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaactccgtcttaattctAcgtgcggcttcactttcatt	7	11	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:61067315A>G	uc002lix.2	-	7	1016	c.756T>C	c.(754-756)CGT>CGC	p.R252R	VPS4B_uc010dpx.2_Silent_p.R252R|VPS4B_uc010dpy.2_Silent_p.R134R|VPS4B_uc010dpz.1_Silent_p.R134R	NM_004869	NP_004860	O75351	VPS4B_HUMAN	vacuolar protein sorting factor 4B	252					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			ovary(1)	1						TCTTAATTCTACGTGCGGCTT	0.294													G	61067315	A	G	61067315	2	3	19	1	0	0	0	0	0	0	0	1	17210	378	14	3		3	VPS4B	18	61067315	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	81798	61067315	17009933	2805	17104											
SERPINB5	5268	broad.mit.edu	37	chr18	61166407	61166407	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggccacgttctgtatgggaAacattgacagtatcaattgt	10	7	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:61166407A>T	uc002liz.3	+	6	764	c.622A>T	c.(622-624)AAC>TAC	p.N208Y		NM_002639	NP_002630	P36952	SPB5_HUMAN	serine (or cysteine) proteinase inhibitor, clade	208					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)	1						CTGTATGGGAAACATTGACAG	0.393													T	61166407	A	T	61166407	3	4	19	1	0	0	0	0	1	0	0	0	14104	14	1	5	640	5	SERPINB5	18	61166407	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	99092	61166407	16910841	2806	17105											
SERPINB12	89777	broad.mit.edu	37	chr18	61228376	61228377	+	Frame_Shift_Ins	INS	-	-	A													attgaaagtgttgatttccaINSaaaaaaccctgaaaaatcca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:61228375_61228376C>CA	uc010xeo.2	+	3	502_503	c.502_503C>CA	c.(502-504)caafs	p.Q168fs	SERPINB12_uc010xen.2_Frame_Shift_Ins_p.Q148fs	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	148					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.Q167K(1)|p.G168G(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TGTTGATTTCCAAAAAAACCCT	0.386													A	61228377	-	A	61228376	7	5	19	1	0	1	1	0	0	0	0	0	14099	130	5	0	457	0	SERPINB12	18	61228376	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	61969	61228376	16848872	2807	17106											
SERPINB4	6318	broad.mit.edu	37	chr18	61306899	61306899	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatttttcctctttagtgTtttcttttttaaatttattc	2	5	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:61306899T>C	uc002ljf.2	-	6	667	c.581A>G	c.(580-582)AAC>AGC	p.N194S	SERPINB4_uc002lje.2_Missense_Mutation_p.N194S|SERPINB4_uc002ljg.2_Intron	NM_002974	NP_002965	P48594	SPB4_HUMAN	serine (or cysteine) proteinase inhibitor, clade	194					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3						CTCTTTAGTGTTTTCTTTTTT	0.313													C	61306899	T	C	61306899	3	2	19	1	0	0	0	0	1	0	0	0	14103	1725	60	3	603	3	SERPINB4	18	61306899	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	78523	61306899	16770349	2808	17107											
SERPINB7	8710	broad.mit.edu	37	chr18	61471659	61471659	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagatctctctgggattgcTtcggggggtcgtctgtatat	14	8	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:61471659T>C	uc002ljl.2	+	8	1029	c.933T>C	c.(931-933)GCT>GCC	p.A311A	SERPINB7_uc002ljm.2_Silent_p.A311A|SERPINB7_uc010xet.1_Silent_p.A294A|SERPINB7_uc010dqg.2_Silent_p.A311A	NM_001040147	NP_001035237	O75635	SPB7_HUMAN	serine (or cysteine) proteinase inhibitor, clade	311					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			lung(2)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)				CTGGGATTGCTTCGGGGGGTC	0.428													C	61471659	T	C	61471659	2	2	19	1	0	0	0	0	0	0	0	1	14106	1596	56	3		3	SERPINB7	18	61471659	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	164760	61471659	16605589	2809	17108											
DSEL	92126	broad.mit.edu	37	chr18	65178220	65178220	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagcatttagtccataaacTttggatatcctaggcgatcc	8	10	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:65178220T>A	uc002lke.1	-	2	4880	c.3656A>T	c.(3655-3657)AAG>ATG	p.K1219M		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1209						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				GTCCATAAACTTTGGATATCC	0.353													A	65178220	T	A	65178220	3	1	19	1	0	0	0	0	1	0	0	0	4775	1609	56	5	16	5	DSEL	18	65178220	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	3706561	65178220	12899028	2810	17109											
NETO1	81832	broad.mit.edu	37	chr18	70534507	70534507	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagggtactcactgtgaagcAcgctgcgcccatggatcatg	13	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:70534507A>G	uc002lkw.2	-	1	304	c.20T>C	c.(19-21)GTG>GCG	p.V7A	NETO1_uc002lkx.1_5'Flank|NETO1_uc002lky.1_Missense_Mutation_p.V7A|NETO1_uc002lkz.2_5'Flank	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	7					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ACTGTGAAGCACGCTGCGCCC	0.662													G	70534507	A	G	70534507	3	3	19	1	0	0	0	0	1	0	0	0	10339	159	6	3	1659	3	NETO1	18	70534507	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	5356287	70534507	7542741	2811	17110											
ZNF407	55628	broad.mit.edu	37	chr18	72347183	72347183	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggtgtgaaaaagaagaaatCtgagggcagttccattggtg	14	4	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:72347183C>A	uc002llw.2	+	1	4265	c.4208C>A	c.(4207-4209)TCT>TAT	p.S1403Y	ZNF407_uc010xfc.1_Missense_Mutation_p.S1403Y|ZNF407_uc010dqu.1_Missense_Mutation_p.S1403Y|ZNF407_uc002llu.2_Missense_Mutation_p.S1402Y	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AAGAAGAAATCTGAGGGCAGT	0.463													A	72347183	C	A	72347183	3	1	19	1	0	0	0	0	1	0	0	0	17884	913	32	5	4210	5	ZNF407	18	72347183	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1812676	72347183	5730065	2812	17111											
TSHZ1	10194	broad.mit.edu	37	chr18	72998443	72998443	+	Frame_Shift_Del	DEL	C	C	-													gggcgcttcaggacctggcgCccccctgctcccctgagcca					rs149658226	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:72998442_72998442GC>G	uc002lly.3	+	1	1508	c.945_945GC>G	c.(943-945)gcgfs	p.A315fs	TSHZ1_uc021uln.1_Frame_Shift_Del_p.A315fs	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	360						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGGACCTGGCGCCCCCCTGCT	0.597													-	72998443	C	-	72998443	7	5	19	1	0	1	0	1	0	0	0	0	16620	739	26	0	948	0	TSHZ1	18	72998443	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	651260	72998443	5078805	2813	17112											
TSHZ1	10194	broad.mit.edu	37	chr18	72998600	72998600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtttgaggcccgcaaggCgcagatcctcaagtgcatgg	14	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:72998600C>T	uc002lly.2	+	2	1666	c.1103C>T	c.(1102-1104)GCG>GTG	p.A368V		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	413						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCCCGCAAGGCGCAGATCCTC	0.602													T	72998600	C	T	72998600	3	4	19	1	0	0	0	0	1	0	0	0	16620	768	27	1	1105	1	TSHZ1	18	72998600	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	157	72998600	5078648	2814	17113											
ZNF516	9658	broad.mit.edu	37	chr18	74154821	74154821	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggtggtcgcagtagggacActtgtagggcttctcgcccg	15	12	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:74154821A>G	uc010dqx.1	-	2	425	c.190T>C	c.(190-192)TGT>CGT	p.C64R	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	64	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CAGTAGGGACACTTGTAGGGC	0.627													G	74154821	A	G	74154821	3	3	19	1	0	0	0	0	1	0	0	0	17957	159	6	3	3322	3	ZNF516	18	74154821	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1156221	74154821	3922427	2815	17114											
ZNF236	7776	broad.mit.edu	37	chr18	74592191	74592191	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctggagctctcagagccGgcgccggtggagtcggggca	17	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:74592191G>A	uc002lmi.2	+	8	1299	c.1101G>A	c.(1099-1101)CCG>CCA	p.P367P	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Silent_p.P367P	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	367					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCTCAGAGCCGGCGCCGGTGG	0.647													A	74592191	G	A	74592191	2	1	19	1	0	0	0	0	0	0	0	1	17786	1103	39	1		1	ZNF236	18	74592191	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	437370	74592191	3485057	2816	17115											
ZNF236	7776	broad.mit.edu	37	chr18	74631811	74631811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaggtcatcactttcacGgaggaggagacagcccagtt	12	11	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:74631811G>A	uc002lmi.2	+	20	3546	c.3348G>A	c.(3346-3348)ACG>ACA	p.T1116T	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1116					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCACTTTCACGGAGGAGGAGA	0.527													A	74631811	G	A	74631811	2	1	19	1	0	0	0	0	0	0	0	1	17786	1103	39	1		1	ZNF236	18	74631811	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	39620	74631811	3445437	2817	17116											
ADNP2	22850	broad.mit.edu	37	chr18	77894254	77894254	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggtgcccctggaagcctcActcattccccccctgctgct	9	18	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:77894254A>G	uc002lnw.2	+	4	1413	c.958A>G	c.(958-960)ACT>GCT	p.T320A		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	320	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TGGAAGCCTCACTCATTCCCC	0.637													G	77894254	A	G	77894254	3	3	19	1	0	0	0	0	1	0	0	0	324	159	6	3	968	3	ADNP2	18	77894254	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3262443	77894254	182994	2818	17117											
ADNP2	22850	broad.mit.edu	37	chr18	77895696	77895696	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggggaagaagaagttgccTatggattatagcaacagagg	14	5	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:77895696T>C	uc002lnw.2	+	4	2855	c.2400T>C	c.(2398-2400)CCT>CCC	p.P800P		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	800					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AGAAGTTGCCTATGGATTATA	0.468													C	77895696	T	C	77895696	2	2	19	1	0	0	0	0	0	0	0	1	324	1509	53	3		3	ADNP2	18	77895696	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1442	77895696	181552	2819	17118											
THEG	51298	broad.mit.edu	37	chr19	375883	375883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagagctctggaggccacGggggtcgccgtcctgctccc	14	16	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:375883G>A	uc002lol.2	-	1	127	c.88C>T	c.(88-90)CGT>TGT	p.R30C	THEG_uc002lom.2_Missense_Mutation_p.R30C	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Theg homolog isoform 1	30					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			ovary(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGGCCACGGGGGTCGCCG	0.657													A	375883	G	A	375883	3	1	19	1	0	0	0	0	1	0	0	0	15854	1116	39	1	1083	1	THEG	19	375883	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08		375883	58753100	2820	17119											
PALM	5064	broad.mit.edu	37	chr19	736048	736048	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccaacacgcccctgaggAcggttgacggctcccccatg	10	17	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:736048A>G	uc002lpm.1	+	7	666	c.472A>G	c.(472-474)ACG>GCG	p.T158A	PALM_uc002lpn.1_Missense_Mutation_p.T158A|PALM_uc010xfu.1_Missense_Mutation_p.T23A	NM_002579	NP_002570	O75781	PALM_HUMAN	paralemmin isoform 1	158					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane					0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		GCCCCTGAGGACGGTTGACGG	0.662													G	736048	A	G	736048	3	3	19	1	0	0	0	0	1	0	0	0	11408	275	10	3	498	3	PALM	19	736048	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	360165	736048	58392935	2821	17120											
AZU1	566	broad.mit.edu	37	chr19	828274	828274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggcggccggaaggcgaggCcccgccagttcccgttcctg	15	15	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:828274C>T	uc002lpz.1	+	2	119	c.103C>T	c.(103-105)CCC>TCC	p.P35S		NM_001700	NP_001691	P20160	CAP7_HUMAN	azurocidin 1 preproprotein	35	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			pancreas(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGGCGAGGCCCCGCCAGTT	0.657													T	828274	C	T	828274	3	4	19	1	0	0	0	0	1	0	0	0	1243	739	26	2	109	2	AZU1	19	828274	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	92226	828274	58300709	2822	17121											
ABCA7	10347	broad.mit.edu	37	chr19	1055276	1055276	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgaccggctctggggaAgtggttcagaacctgacagg	16	9	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:1055276A>C	uc002lqw.3	+	30	4362	c.4131A>C	c.(4129-4131)GAA>GAC	p.E1377D	ABCA7_uc010dsb.1_Missense_Mutation_p.E1239D|ABCA7_uc002lqy.2_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1377	Extracellular (By similarity).				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCTGGGGAAGTGGTTCAGA	0.692													C	1055276	A	C	1055276	3	2	19	1	0	0	0	0	1	0	0	0	37	69	3	5	4245	5	ABCA7	19	1055276	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	227002	1055276	58073707	2823	17122											
HMHA1	23526	broad.mit.edu	37	chr19	1080015	1080015	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgagagcagcaagctgtAtgacccaggccagcagtacg	14	10	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:1080015A>G	uc002lqz.1	+	13	1832	c.1601A>G	c.(1600-1602)TAT>TGT	p.Y534C	HMHA1_uc010xgd.1_Missense_Mutation_p.Y550C|HMHA1_uc010xge.1_Missense_Mutation_p.Y374C|HMHA1_uc002lra.1_Missense_Mutation_p.Y374C|HMHA1_uc002lrb.1_Missense_Mutation_p.Y417C|HMHA1_uc002lrc.1_Missense_Mutation_p.Y169C|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	534					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAAGCTGTATGACCCAGGC	0.642													G	1080015	A	G	1080015	3	3	19	1	0	0	0	0	1	0	0	0	7240	449	16	3	1651	3	HMHA1	19	1080015	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	24739	1080015	58048968	2824	17123											
DAZAP1	26528	broad.mit.edu	37	chr19	1434841	1434841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagggtcggggggcccccCcgccggcggcagcggctttg	19	16	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:1434841C>T	uc002lsn.2	+	12	1343	c.1154C>T	c.(1153-1155)CCC>CTC	p.P385L	DAZAP1_uc002lsm.2_3'UTR|DAZAP1_uc002lso.2_Missense_Mutation_p.P384L|DAZAP1_uc002lsl.1_Missense_Mutation_p.P384L	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1 isoform b	385	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)	1		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		gggggcccccccgccggcggc	0.597													T	1434841	C	T	1434841	3	4	19	1	0	0	0	0	1	0	0	0	4244	623	22	4	1293	4	DAZAP1	19	1434841	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	354826	1434841	57694142	2825	17124											
ADAMTSL5	339366	broad.mit.edu	37	chr19	1506599	1506599	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtctcaccaaagtcactGccgcaatagtggagtagtcg	13	10	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:1506599G>A	uc002ltd.2	-	11	1548	c.1104C>T	c.(1102-1104)GGC>GGT	p.G368G	ADAMTSL5_uc010dsl.2_Silent_p.G137G|ADAMTSL5_uc010xgq.1_Silent_p.G378G	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5 precursor	368	NTR.					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAAGTCACTGCCGCAATAGT	0.637													A	1506599	G	A	1506599	2	1	19	1	0	0	0	0	0	0	0	1	278	1306	46	2		2	ADAMTSL5	19	1506599	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	71758	1506599	57622384	2826	17125											
MBD3	53615	broad.mit.edu	37	chr19	1585130	1585130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcagcatcttgcccgtgCggaagtcgaaggtgctcagg	13	11	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:1585130C>T	uc002ltl.1	-	2	216	c.194G>A	c.(193-195)CGC>CAC	p.R65H	MBD3_uc002ltj.2_Missense_Mutation_p.R65H|MBD3_uc002ltk.2_Missense_Mutation_p.R33H	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	65	MBD.				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGCCCGTGCGGAAGTCGAA	0.657													T	1585130	C	T	1585130	3	4	19	1	0	0	0	0	1	0	0	0	9344	768	27	1	701	1	MBD3	19	1585130	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	78531	1585130	57543853	2827	17126											
TCF3	6929	broad.mit.edu	37	chr19	1615419	1615419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggcctcgttgatgtcacGgacccgcagccgctcccggg	13	15	1	1	rs148304557		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:1615419G>A	uc002ltr.2	-	18	1754	c.1687C>T	c.(1687-1689)CGT>TGT	p.R563C	TCF3_uc002ltn.2_Intron|TCF3_uc002lto.2_Missense_Mutation_p.R324C|TCF3_uc002ltt.3_Intron|TCF3_uc002ltq.2_Missense_Mutation_p.R567C|TCF3_uc002lts.1_Intron	NM_003200	NP_003191	P15923	TFE2_HUMAN	transcription factor 3 isoform E12	563	Helix-loop-helix motif.			RVR->GVG: No DNA-binding.|R->K: No DNA-binding.	B cell lineage commitment|B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1)	7		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGATGTCACGGACCCGCAGC	0.647			T	PBX1|HLF|TFPT	pre B-ALL								A	1615419	G	A	1615419	3	1	19	1	0	0	0	0	1	0	0	0	15691	1116	39	1	516	1	TCF3	19	1615419	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	30289	1615419	57513564	2828	17127											
ADAT3	113179	broad.mit.edu	37	chr19	1913109	1913109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttccaggtgttccgcgggGtgctggaggagcagtgccgc	18	11	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:1913109G>A	uc002luh.2	+	2	1243	c.1015G>A	c.(1015-1017)GTG>ATG	p.V339M	SCAMP4_uc002lui.1_Intron|SCAMP4_uc002luj.2_Intron|SCAMP4_uc002luk.2_Intron|SCAMP4_uc010dss.2_Intron	NM_138422	NP_612431	Q96EY9	ADAT3_HUMAN	tRNA-specific adenosine deaminase 3	339					tRNA processing		hydrolase activity|zinc ion binding			breast(1)|skin(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTCCGCGGGGTGCTGGAGGA	0.746													A	1913109	G	A	1913109	3	1	19	1	0	0	0	0	1	0	0	0	286	1261	44	4	1017	4	ADAT3	19	1913109	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	297690	1913109	57215874	2829	17128											
DOT1L	84444	broad.mit.edu	37	chr19	2226522	2226522	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacacagcttcagtgatggTgcttctcttccccacaaggg	9	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:2226522T>C	uc002lvb.3	+	27	4038	c.4002T>C	c.(4000-4002)GGT>GGC	p.G1334G	DOT1L_uc002lvc.1_Silent_p.G628G	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	1334						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGTGATGGTGCTTCTCTTC	0.701													C	2226522	T	C	2226522	2	2	19	1	0	0	0	0	0	0	0	1	4709	1683	59	3		3	DOT1L	19	2226522	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	313413	2226522	56902461	2830	17129											
SF3A2	8175	broad.mit.edu	37	chr19	2248140	2248140	+	Frame_Shift_Del	DEL	C	C	-													ccaccaacctctggggtccaCcccccagctcctggagtcca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:2248140delC	uc002lvg.2	+	9	1112	c.990delC	c.(988-990)CACfs	p.H330fs	AMH_uc002lvh.2_5'Flank|hsa-mir-4321|MI0015852_5'Flank	NM_007165	NP_009096	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2	330	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGGGTCCACCCCCCAGCTC	0.731													-	2248140	C	-	2248140	7	5	19	1	0	1	0	1	0	0	0	0	14147	506	18	0	1020	0	SF3A2	19	2248140	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	21618	2248140	56880843	2831	17130											
TMPRSS9	360200	broad.mit.edu	37	chr19	2408461	2408461	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagatcgtcaagcacccccTgtacaacgcggacacggccg	10	17	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:2408461T>G	uc010xgx.1	+	7	848	c.848T>G	c.(847-849)CTG>CGG	p.L283R	TMPRSS9_uc002lvv.1_Missense_Mutation_p.L317R	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	283	Extracellular (Potential).|Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGCACCCCCTGTACAACGCG	0.687													G	2408461	T	G	2408461	3	3	19	1	0	0	0	0	1	0	0	0	16250	1580	55	5	874	5	TMPRSS9	19	2408461	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	160321	2408461	56720522	2832	17131											
LMNB2	84823	broad.mit.edu	37	chr19	2434861	2434861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcagctcctcgcgagcCgcactggccgccttgtcgtt	10	17	1	0	rs144417417		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:2434861C>T	uc002lvy.2	-	6	933	c.846G>A	c.(844-846)GCG>GCA	p.A282A	LMNB2_uc002lwa.1_Silent_p.A302A	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	282	Rod.|Coil 2.					nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGCGAGCCGCACTGGCCG	0.582													T	2434861	C	T	2434861	2	4	19	1	0	0	0	0	0	0	0	1	8850	639	23	1		1	LMNB2	19	2434861	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	26400	2434861	56694122	2833	17132											
GNA11	2767	broad.mit.edu	37	chr19	3121149	3121149	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggacaccatcctgcagcTcaacctcaaggagtacaacc	8	14	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:3121149T>C	uc002lxd.2	+	7	1294	c.1052T>C	c.(1051-1053)CTC>CCC	p.L351P	uc010xhe.1_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein),	351					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.L351L(1)		eye(70)|skin(16)	86		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		ATCCTGCAGCTCAACCTCAAG	0.627			Mis		uveal melanoma								C	3121149	T	C	3121149	3	2	19	1	0	0	0	0	1	0	0	0	6499	1551	54	3	1078	3	GNA11	19	3121149	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	686288	3121149	56007834	2834	17133											
C19orf28	126321	broad.mit.edu	37	chr19	3551146	3551146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccgccccacagcccagGcaggggctgaagatgaaggg	17	12	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:3551146G>A	uc002lxz.2	-	2	515	c.345C>T	c.(343-345)TGC>TGT	p.C115C	C19orf28_uc002lxw.2_Silent_p.C115C|C19orf28_uc002lxx.2_Silent_p.C115C|C19orf28_uc002lxy.2_Silent_p.C106C	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform c	115	Helical; (Potential).				transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)		CACAGCCCAGGCAGGGGCTGA	0.667													A	3551146	G	A	3551146	2	1	19	1	0	0	0	0	0	0	0	1	1917	1195	42	2		2	C19orf28	19	3551146	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	429997	3551146	55577837	2835	17134											
C19orf29	58509	broad.mit.edu	37	chr19	3613205	3613205	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtccaggctctgctggatcAggtcctcctccatgagcacc	10	16	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:3613205A>G	uc002lyh.2	-	9	1690	c.1637T>C	c.(1636-1638)CTG>CCG	p.L546P	C19orf29_uc010xho.1_Missense_Mutation_p.L5P|C19orf29_uc010dtn.2_Missense_Mutation_p.L394P|C19orf29_uc002lyi.3_Missense_Mutation_p.L546P|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	546						catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTGGATCAGGTCCTCCTC	0.726													G	3613205	A	G	3613205	3	3	19	1	0	0	0	0	1	0	0	0	1918	188	7	3	647	3	C19orf29	19	3613205	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	62059	3613205	55515778	2836	17135											
PIP5K1C	23396	broad.mit.edu	37	chr19	3641737	3641737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggggaccacaatctccaCgctgcacgcaggctccacct	9	16	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:3641737C>T	uc002lyj.1	-	15	1810	c.1753G>A	c.(1753-1755)GTG>ATG	p.V585M	PIP5K1C_uc010xhq.1_Missense_Mutation_p.V585M|PIP5K1C_uc010xhr.1_Missense_Mutation_p.V585M	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	585					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		ACAATCTCCACGCTGCACGCA	0.672													T	3641737	C	T	3641737	3	4	19	1	0	0	0	0	1	0	0	0	11941	536	19	1	269	1	PIP5K1C	19	3641737	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	28532	3641737	55487246	2837	17136											
PIAS4	51588	broad.mit.edu	37	chr19	4013158	4013158	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accccctgaccatgcactccAcctacgaccgggccggcgct	9	20	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:4013158A>G	uc002lzg.2	+	2	275	c.265A>G	c.(265-267)ACC>GCC	p.T89A		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	89					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGCACTCCACCTACGACCG	0.627													G	4013158	A	G	4013158	3	3	19	1	0	0	0	0	1	0	0	0	11878	159	6	3	271	3	PIAS4	19	4013158	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	371421	4013158	55115825	2838	17137											
CREB3L3	84699	broad.mit.edu	37	chr19	4171861	4171861	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaccctggtcctgaggaaTgcaacagaggggctgggcca	15	12	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:4171861T>C	uc002lzl.2	+	10	1397	c.1281T>C	c.(1279-1281)AAT>AAC	p.N427N	CREB3L3_uc002lzm.2_Silent_p.N417N|CREB3L3_uc010xib.1_Silent_p.N416N|CREB3L3_uc010xic.1_3'UTR	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	427	Lumenal (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTGAGGAATGCAACAGAGG	0.687													C	4171861	T	C	4171861	2	2	19	1	0	0	0	0	0	0	0	1	3858	1461	51	3		3	CREB3L3	19	4171861	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	158703	4171861	54957122	2839	17138											
SH3GL1	6455	broad.mit.edu	37	chr19	4361738	4361738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggaagcccagctccccGtcgttctcgggctcgaagtc	11	15	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:4361738G>A	uc002maj.2	-	10	1072	c.966C>T	c.(964-966)GAC>GAT	p.D322D	SH3GL1_uc002mak.2_Silent_p.D258D|SH3GL1_uc010xig.1_Silent_p.D274D	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	322	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CCAGCTCCCCGTCGTTCTCGG	0.672			T	MLL	AL								A	4361738	G	A	4361738	2	1	19	1	0	0	0	0	0	0	0	1	14250	1136	40	1		1	SH3GL1	19	4361738	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	189877	4361738	54767245	2840	17139											
CHAF1A	10036	broad.mit.edu	37	chr19	4433467	4433467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccagggcactcccatctcGctgaagaggaagtcagcggg	14	12	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:4433467G>A	uc002mal.2	+	13	2704	c.2604G>A	c.(2602-2604)TCG>TCA	p.S868S		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	868	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCATCTCGCTGAAGAGGA	0.657								Chromatin_Structure					A	4433467	G	A	4433467	2	1	19	1	0	0	0	0	0	0	0	1	3311	1074	38	1		1	CHAF1A	19	4433467	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	71729	4433467	54695516	2841	17140											
LRG1	116844	broad.mit.edu	37	chr19	4538098	4538098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctggtcacagatccaggGgttgccggagatgtcgaagc	15	9	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:4538098G>A	uc002mau.2	-	2	909	c.898C>T	c.(898-900)CCC>TCC	p.P300S	PLIN5_uc002mas.2_5'Flank|PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1 precursor	300	LRRCT.					extracellular region|membrane				ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGATCCAGGGGTTGCCGGAG	0.587													A	4538098	G	A	4538098	3	1	19	1	0	0	0	0	1	0	0	0	8942	1232	43	4	149	4	LRG1	19	4538098	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	104631	4538098	54590885	2842	17141											
DPP9	91039	broad.mit.edu	37	chr19	4683528	4683528	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggattagccccatgagcgaGaggaagcccccgtaggacca	13	12	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:4683528G>A	uc002mba.2	-	19	2550	c.2292C>T	c.(2290-2292)CTC>CTT	p.L764L		NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9	735					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CCATGAGCGAGAGGAAGCCCC	0.652													A	4683528	G	A	4683528	2	1	19	1	0	0	0	0	0	0	0	1	4733	929	33	4		4	DPP9	19	4683528	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	145430	4683528	54445455	2843	17142											
FEM1A	55527	broad.mit.edu	37	chr19	4792751	4792751	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtcccaccagccgggaAgctgccgtggaagccttgga	14	13	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:4792751A>G	uc002mbf.2	+	1	1024	c.885A>G	c.(883-885)GAA>GAG	p.E295E	uc002mbg.1_RNA	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a	295					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCAGCCGGGAAGCTGCCGTGG	0.607													G	4792751	A	G	4792751	2	3	19	1	0	0	0	0	0	0	0	1	5809	69	3	3		3	FEM1A	19	4792751	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	109223	4792751	54336232	2844	17143											
TICAM1	148022	broad.mit.edu	37	chr19	4817394	4817394	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacagaaagttggagtggCgtctggtctttgacagagca	13	7	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:4817394C>T	uc002mbi.2	-	2	1247	c.996G>A	c.(994-996)ACG>ACA	p.T332T		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	332	Pro-rich.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GTTGGAGTGGCGTCTGGTCTT	0.517													T	4817394	C	T	4817394	2	4	19	1	0	0	0	0	0	0	0	1	15889	755	27	1		1	TICAM1	19	4817394	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	24643	4817394	54311589	2845	17144											
LONP1	9361	broad.mit.edu	37	chr19	5700824	5700824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcgtttcttgacgtcctcCatgccgtagtggtcttcctc	9	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:5700824C>T	uc002mcx.2	-	9	1515	c.1482G>A	c.(1480-1482)ATG>ATA	p.M494I	LONP1_uc002mcy.2_Missense_Mutation_p.M430I|LONP1_uc010duh.2_Missense_Mutation_p.M235I|LONP1_uc010dui.2_Missense_Mutation_p.M478I|LONP1_uc002mcz.2_Missense_Mutation_p.M298I	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	494					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						TGACGTCCTCCATGCCGTAGT	0.602													T	5700824	C	T	5700824	3	4	19	1	0	0	0	0	1	0	0	0	8892	594	21	4	1437	4	LONP1	19	5700824	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	883430	5700824	53428159	2846	17145											
TMEM146	257062	broad.mit.edu	37	chr19	5739377	5739377	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcatatttccgtggagatcAgatatcccagacttatatat	7	8	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:5739377A>G	uc002mda.2	+	7	561	c.500A>G	c.(499-501)CAG>CGG	p.Q167R	TMEM146_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	167	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						CGTGGAGATCAGATATCCCAG	0.244													G	5739377	A	G	5739377	3	3	19	1	0	0	0	0	1	0	0	0	16057	188	7	3	526	3	TMEM146	19	5739377	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	38553	5739377	53389606	2847	17146											
PRR22	163154	broad.mit.edu	37	chr19	5784045	5784045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggggtcgaagaagcacccGcatggggccatctggaaacc	15	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:5784045G>A	uc002mdb.1	-	1	566	c.207C>T	c.(205-207)TGC>TGT	p.C69C	PRR22_uc010xiv.1_Silent_p.C71C	NM_153359	NP_699190	Q8IZ63	PRR22_HUMAN	proline rich 22 isoform 2	69											0						AGAAGCACCCGCATGGGGCCA	0.677													A	5784045	G	A	5784045	2	1	19	1	0	0	0	0	0	0	0	1	12593	1079	38	1		1	PRR22	19	5784045	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	44668	5784045	53344938	2848	17147											
C3	718	broad.mit.edu	37	chr19	6707497	6707497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtccattcgcttctccGtgagctgcacggaacggcgt	11	13	1	1	rs139945572		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:6707497G>A	uc002mfm.2	-	16	2089	c.2027C>T	c.(2026-2028)ACG>ATG	p.T676M		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	676					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCGCTTCTCCGTGAGCTGCAC	0.667													A	6707497	G	A	6707497	3	1	19	1	0	0	0	0	1	0	0	0	2204	1145	40	1	3068	1	C3	19	6707497	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	923452	6707497	52421486	2849	17148											
ZNF557	79230	broad.mit.edu	37	chr19	7075715	7075715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagaaggacacacagagggCggagagctggttaatgagct	16	7	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:7075715C>T	uc002mgb.2	+	4	545	c.60C>T	c.(58-60)GGC>GGT	p.G20G	ZNF557_uc002mga.2_Silent_p.G27G|ZNF557_uc002mgc.2_Silent_p.G27G	NM_001044388	NP_001037853	Q8N988	ZN557_HUMAN	zinc finger protein 557 isoform b	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2				Lung(535;0.179)		ACACAGAGGGCGGAGAGCTGG	0.517													T	7075715	C	T	7075715	2	4	19	1	0	0	0	0	0	0	0	1	17985	755	27	1		1	ZNF557	19	7075715	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	368218	7075715	52053268	2850	17149											
MCOLN1	57192	broad.mit.edu	37	chr19	7589892	7589892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgggtatgggacccaggCggggccttcaccggcccctc	14	18	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:7589892C>T	uc002mgo.2	+	2	202	c.77C>T	c.(76-78)GCG>GTG	p.A26V	MCOLN1_uc010dvh.1_Missense_Mutation_p.A26V|MCOLN1_uc002mgp.2_5'UTR	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	mucolipin 1	26					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(1)	1						GGGACCCAGGCGGGGCCTTCA	0.622													T	7589892	C	T	7589892	3	4	19	1	0	0	0	0	1	0	0	0	9395	768	27	1	83	1	MCOLN1	19	7589892	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	514177	7589892	51539091	2851	17150											
XAB2	56949	broad.mit.edu	37	chr19	7684859	7684859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggatcttgctctgggcgCgcaagggctggtcacgctcc	14	13	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:7684859C>T	uc002mgx.2	-	17	2395	c.2369G>A	c.(2368-2370)CGC>CAC	p.R790H		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	790					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						GCTCTGGGCGCGCAAGGGCTG	0.672								Direct_reversal_of_damage|NER					T	7684859	C	T	7684859	3	4	19	1	0	0	0	0	1	0	0	0	17415	768	27	1	210	1	XAB2	19	7684859	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	94967	7684859	51444124	2852	17151											
ELAVL1	1994	broad.mit.edu	37	chr19	8028431	8028431	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccccaggcggtagccgTtcaggctggctatggccatc	13	14	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:8028431T>C	uc002mjb.2	-	6	1084	c.917A>G	c.(916-918)AAC>AGC	p.N306S		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	ELAV-like 1	306	RRM 3.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding				0						GCGGTAGCCGTTCAGGCTGGC	0.458													C	8028431	T	C	8028431	3	2	19	1	0	0	0	0	1	0	0	0	5049	1725	60	3	67	3	ELAVL1	19	8028431	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	343572	8028431	51100552	2853	17152											
FBN3	84467	broad.mit.edu	37	chr19	8137979	8137979	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaagtagccttgaggacaGccgcacaggaagccaccagg	14	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:8137979G>A	uc002mjf.2	-	61	7926	c.7905C>T	c.(7903-7905)GGC>GGT	p.G2635G	FBN3_uc002mje.2_Silent_p.G431G	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2635	EGF-like 44; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CTTGAGGACAGCCGCACAGGA	0.612													A	8137979	G	A	8137979	2	1	19	1	0	0	0	0	0	0	0	1	5704	958	34	2		2	FBN3	19	8137979	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	109548	8137979	50991004	2854	17153											
FBN3	84467	broad.mit.edu	37	chr19	8196449	8196449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctcaccggagtctttgGcaggacaaagctggcagggc	15	10	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:8196449G>A	uc002mjf.2	-	14	2000	c.1979C>T	c.(1978-1980)GCC>GTC	p.A660V		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	660	TB 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GGAGTCTTTGGCAGGACAAAG	0.642													A	8196449	G	A	8196449	3	1	19	1	0	0	0	0	1	0	0	0	5704	1203	42	2	6650	2	FBN3	19	8196449	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	58470	8196449	50932534	2855	17154											
ANGPTL4	51129	broad.mit.edu	37	chr19	8436327	8436327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccaccgtcccacccagCggcctctccgtacccttctc	6	23	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:8436327C>T	uc002mjq.1	+	6	1155	c.960C>T	c.(958-960)AGC>AGT	p.S320S	ANGPTL4_uc002mjr.1_Silent_p.S282S|ANGPTL4_uc010xkc.1_Silent_p.S153S	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4 protein isoform a precursor	320	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			ovary(1)	1						TCCCACCCAGCGGCCTCTCCG	0.672													T	8436327	C	T	8436327	2	4	19	1	0	0	0	0	0	0	0	1	616	767	27	1		1	ANGPTL4	19	8436327	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	239878	8436327	50692656	2856	17155											
PRAM1	84106	broad.mit.edu	37	chr19	8563852	8563852	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggaggcttcttgggaaaGtcactcagcggaggctggga	17	8	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:8563852G>A	uc002mkd.2	-	2	860	c.840C>T	c.(838-840)GAC>GAT	p.D280D	PRAM1_uc002mkc.2_Silent_p.D280D	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	328	Pro-rich.						lipid binding|protein binding				0						TCTTGGGAAAGTCACTCAGCG	0.657													A	8563852	G	A	8563852	2	1	19	1	0	0	0	0	0	0	0	1	12423	1020	36	4		4	PRAM1	19	8563852	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	127525	8563852	50565131	2857	17156											
ADAMTS10	81794	broad.mit.edu	37	chr19	8668717	8668717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagaacccttgggcccacCgtgcaggggctcaatcaggt	13	14	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:8668717C>T	uc002mkj.1	-	5	761	c.487G>A	c.(487-489)GGT>AGT	p.G163S	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	163					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						TTGGGCCCACCGTGCAGGGGC	0.587													T	8668717	C	T	8668717	3	4	19	1	0	0	0	0	1	0	0	0	256	652	23	1	2912	1	ADAMTS10	19	8668717	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	104865	8668717	50460266	2858	17157											
MUC16	94025	broad.mit.edu	37	chr19	9048747	9048747	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggtggccattgaaggtgTggtctctggttcaccaagag	14	8	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:9048747T>C	uc002mkp.2	-	5	33088	c.32884A>G	c.(32884-32886)ACA>GCA	p.T10962A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10964	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ATTGAAGGTGTGGTCTCTGGT	0.498													C	9048747	T	C	9048747	3	2	19	1	0	0	0	0	1	0	0	0	9973	1696	59	3	10959	3	MUC16	19	9048747	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	380030	9048747	50080236	2859	17158											
MUC16	94025	broad.mit.edu	37	chr19	9056901	9056901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaggtgtatttgttggtGtgactgagctggtgtccagg	16	4	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:9056901G>A	uc002mkp.2	-	3	30749	c.30545C>T	c.(30544-30546)ACA>ATA	p.T10182I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10184	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ATTTGTTGGTGTGACTGAGCT	0.458													A	9056901	G	A	9056901	3	1	19	1	0	0	0	0	1	0	0	0	9973	1377	48	4	13306	4	MUC16	19	9056901	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	8154	9056901	50072082	2860	17159											
MUC16	94025	broad.mit.edu	37	chr19	9063940	9063940	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccttcagagccgctggActccctcaatccaggggtca	11	15	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:9063940A>T	uc002mkp.2	-	3	23710	c.23506T>A	c.(23506-23508)TCC>ACC	p.S7836T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7838	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GAGCCGCTGGACTCCCTCAAT	0.542													T	9063940	A	T	9063940	3	4	19	1	0	0	0	0	1	0	0	0	9973	275	10	5	20345	5	MUC16	19	9063940	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	7039	9063940	50065043	2861	17160											
MUC16	94025	broad.mit.edu	37	chr19	9066859	9066859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtatctcatgtgaggTactgctcaaatttggaggtg	12	6	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:9066859T>C	uc002mkp.2	-	3	20791	c.20587A>G	c.(20587-20589)ACC>GCC	p.T6863A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6865	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCATGTGAGGTACTGCTCAAA	0.493													C	9066859	T	C	9066859	3	2	19	1	0	0	0	0	1	0	0	0	9973	1638	57	3	23264	3	MUC16	19	9066859	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2919	9066859	50062124	2862	17161											
MUC16	94025	broad.mit.edu	37	chr19	9075275	9075275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggcaaggaatgagctggaTattctcttagaggaggtaat	14	4	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:9075275T>C	uc002mkp.2	-	3	12375	c.12171A>G	c.(12169-12171)ATA>ATG	p.I4057M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4059	Thr-rich.|Extracellular (Potential).|Ser-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ATGAGCTGGATATTCTCTTAG	0.498													C	9075275	T	C	9075275	3	2	19	1	0	0	0	0	1	0	0	0	9973	1396	49	3	31680	3	MUC16	19	9075275	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	8416	9075275	50053708	2863	17162											
MUC16	94025	broad.mit.edu	37	chr19	9084585	9084585	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaacctggggtctatcTgaagagaagagagatgggga	18	4	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:9084585T>C	uc002mkp.2	-	1	7434	c.7230A>G	c.(7228-7230)TCA>TCG	p.S2410S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2410	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGGGTCTATCTGAAGAGAAGA	0.478													C	9084585	T	C	9084585	2	2	19	1	0	0	0	0	0	0	0	1	9973	1567	55	3		3	MUC16	19	9084585	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	9310	9084585	50044398	2864	17163											
ZNF317	57693	broad.mit.edu	37	chr19	9270967	9270967	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactcagcacatgagcatgTacgacgggagaaaaatgcat	10	9	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:9270967T>C	uc002mku.2	+	7	921	c.646T>C	c.(646-648)TAC>CAC	p.Y216H	ZNF317_uc002mkv.2_Missense_Mutation_p.Y75H|ZNF317_uc002mkw.2_Missense_Mutation_p.Y184H|ZNF317_uc002mkx.2_Missense_Mutation_p.Y131H|ZNF317_uc002mky.2_Missense_Mutation_p.Y99H	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CATGAGCATGTACGACGGGAG	0.587													C	9270967	T	C	9270967	3	2	19	1	0	0	0	0	1	0	0	0	17832	1638	57	3	668	3	ZNF317	19	9270967	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	186382	9270967	49858016	2865	17164											
ZNF559	84527	broad.mit.edu	37	chr19	9452554	9452554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacacaagaaaactgatatcGgagaggaacttcctaactgt	8	8	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:9452554G>A	uc002mlg.2	+	7	1074	c.427G>A	c.(427-429)GGA>AGA	p.G143R	ZNF559_uc002mlf.2_5'UTR|ZNF559_uc010dwl.1_5'UTR|ZNF559_uc010xkn.1_Missense_Mutation_p.G135R|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Missense_Mutation_p.G207R|ZNF559_uc010dwk.1_5'UTR|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN	zinc finger protein 559	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AACTGATATCGGAGAGGAACT	0.363													A	9452554	G	A	9452554	3	1	19	1	0	0	0	0	1	0	0	0	17987	1117	39	1	441	1	ZNF559	19	9452554	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	181587	9452554	49676429	2866	17165											
KRI1	65095	broad.mit.edu	37	chr19	10670348	10670348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcgctcatccttacggcGcacggaggacgcgatgctgc	13	14	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:10670348G>A	uc002moy.1	-	11	991	c.982C>T	c.(982-984)CGC>TGC	p.R328C	KRI1_uc002mow.1_5'UTR|KRI1_uc002mox.1_Missense_Mutation_p.R324C	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	328	Glu-rich.									ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCCTTACGGCGCACGGAGGAC	0.622													A	10670348	G	A	10670348	3	1	19	1	0	0	0	0	1	0	0	0	8444	1087	38	1	1183	1	KRI1	19	10670348	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1217794	10670348	48458635	2867	17166											
KRI1	65095	broad.mit.edu	37	chr19	10670512	10670512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtccggctcctcgaaacGgaaattgtacttctgttcaa	9	10	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:10670512G>A	uc002moy.1	-	10	928	c.919C>T	c.(919-921)CGT>TGT	p.R307C	KRI1_uc002mow.1_5'UTR|KRI1_uc002mox.1_Missense_Mutation_p.R303C	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	307	Glu-rich.									ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCCTCGAAACGGAAATTGTAC	0.607													A	10670512	G	A	10670512	3	1	19	1	0	0	0	0	1	0	0	0	8444	1116	39	1	1250	1	KRI1	19	10670512	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	164	10670512	48458471	2868	17167											
ILF3	3609	broad.mit.edu	37	chr19	10791697	10791697	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcttccccttctccagcaCgcactgcggctcgctgcctt	7	20	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:10791697C>T	uc002mpn.2	+	10	1277	c.960C>T	c.(958-960)CAC>CAT	p.H320H	ILF3_uc002mpm.2_Silent_p.H320H|ILF3_uc002mpl.2_Silent_p.H320H|ILF3_uc002mpk.2_Silent_p.H320H|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Silent_p.H320H|ILF3_uc002mpp.2_Silent_p.H141H	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	320	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TTCTCCAGCACGCACTGCGGC	0.592													T	10791697	C	T	10791697	2	4	19	1	0	0	0	0	0	0	0	1	7712	535	19	1		1	ILF3	19	10791697	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	121185	10791697	48337286	2869	17168											
ILF3	3609	broad.mit.edu	37	chr19	10794195	10794196	+	Frame_Shift_Ins	INS	-	-	G													agccccagtacccgtcagagINSggggaccgaaatttgctgct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:10794194_10794195A>AG	uc002mpn.3	+	14	2144_2145	c.1827_1828A>AG	c.(1825-1830)agagggfs	p.R609fs	ILF3_uc010xli.1_Frame_Shift_Ins_p.R207fs|ILF3_uc002mpm.2_Frame_Shift_Ins_p.R613fs|ILF3_uc002mpl.2_Frame_Shift_Ins_p.R609fs|ILF3_uc002mpk.2_Frame_Shift_Ins_p.R609fs|ILF3_uc002mpo.3_Frame_Shift_Ins_p.R613fs|ILF3_uc002mpp.3_Frame_Shift_Ins_p.R434fs|ILF3_uc002mpq.3_5'Flank	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	609	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TACCCGTCAGAGGGGGACCGAA	0.554													G	10794196	-	G	10794195	7	5	19	1	0	1	1	0	0	0	0	0	7712	1000	35	0	1894	0	ILF3	19	10794195	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	2498	10794195	48334788	2870	17169											
KANK2	25959	broad.mit.edu	37	chr19	11304581	11304581	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgcactgccacgcgtcgcaGcgtgtggcccttctcgatgt	12	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:11304581G>C	uc010dxv.2	-	6	733	c.175C>G	c.(175-177)CTG>GTG	p.L59V	KANK2_uc002mqm.2_Missense_Mutation_p.L59V|KANK2_uc002mqo.3_Missense_Mutation_p.L59V|KANK2_uc002mqp.1_5'UTR|KANK2_uc002mqq.2_Missense_Mutation_p.L59V	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1	59											0						ACGCGTCGCAGCGTGTGGCCC	0.667													C	11304581	G	C	11304581	3	2	19	1	0	0	0	0	1	0	0	0	7977	962	34	5	2444	5	KANK2	19	11304581	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	510386	11304581	47824402	2871	17170											
DOCK6	57572	broad.mit.edu	37	chr19	11319449	11319449	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagaagccctcctcgtcGggcgacaggatgtcgtcgga	15	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:11319449G>A	uc002mqs.3	-	39	5042	c.5001C>T	c.(4999-5001)CCC>CCT	p.P1667P	DOCK6_uc002mqr.3_Silent_p.P65P|DOCK6_uc010xlq.1_Silent_p.P1006P	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1667	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CCTCCTCGTCGGGCGACAGGA	0.627													A	11319449	G	A	11319449	2	1	19	1	0	0	0	0	0	0	0	1	4691	1103	39	1		1	DOCK6	19	11319449	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	14868	11319449	47809534	2872	17171											
DOCK6	57572	broad.mit.edu	37	chr19	11333573	11333573	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaggggacgactggagccgCgtggccacctgcaggagagg	18	10	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:11333573C>T	uc002mqs.3	-	26	3119	c.3078G>A	c.(3076-3078)ACG>ACA	p.T1026T	DOCK6_uc010xlq.1_Silent_p.T365T	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1026					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						ACTGGAGCCGCGTGGCCACCT	0.632													T	11333573	C	T	11333573	2	4	19	1	0	0	0	0	0	0	0	1	4691	755	27	1		1	DOCK6	19	11333573	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	14124	11333573	47795410	2873	17172											
DOCK6	57572	broad.mit.edu	37	chr19	11361698	11361698	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggttcctcaggtcgaagAtgctagaggcaccactgctt	11	12	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:11361698A>G	uc002mqs.3	-	6	613	c.572T>C	c.(571-573)ATC>ACC	p.I191T		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	191					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CAGGTCGAAGATGCTAGAGGC	0.622													G	11361698	A	G	11361698	3	3	19	1	0	0	0	0	1	0	0	0	4691	333	12	3	5743	3	DOCK6	19	11361698	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	28125	11361698	47767285	2874	17173											
CCDC151	115948	broad.mit.edu	37	chr19	11531591	11531591	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcgcgggtcactacctcgTtgtcctcctcctcactctct	7	17	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:11531591T>C	uc002mrs.2	-	13	1843	c.1700A>G	c.(1699-1701)AAC>AGC	p.N567S	CCDC151_uc002mrr.2_Missense_Mutation_p.N502S|CCDC151_uc010dxz.2_Missense_Mutation_p.N507S|RGL3_uc002mrn.2_5'Flank|RGL3_uc002mrm.2_5'Flank|RGL3_uc002mro.2_5'Flank|RGL3_uc002mrp.2_5'Flank|RGL3_uc002mrq.2_5'Flank	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	567										ovary(1)	1						CACTACCTCGTTGTCCTCCTC	0.577													C	11531591	T	C	11531591	3	2	19	1	0	0	0	0	1	0	0	0	2786	1725	60	3	91	3	CCDC151	19	11531591	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	169893	11531591	47597392	2875	17174											
CNN1	1264	broad.mit.edu	37	chr19	11651959	11651959	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgagggggtgacaggccgTcgcatcggcaacaacttcat	13	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:11651959T>C	uc002msc.1	+	2	296	c.132T>C	c.(130-132)CGT>CGC	p.R44R	CNN1_uc010xmb.1_5'UTR|CNN1_uc010xmc.1_5'UTR	NM_001299	NP_001290	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	44	CH.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding				0						TGACAGGCCGTCGCATCGGCA	0.617													C	11651959	T	C	11651959	2	2	19	1	0	0	0	0	0	0	0	1	3609	1654	58	3		3	CNN1	19	11651959	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	120368	11651959	47477024	2876	17175											
ZNF441	126068	broad.mit.edu	37	chr19	11891889	11891889	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactactcacactggagagaAgccatataaatgtaaacaat	6	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:11891889A>G	uc010dyj.2	+	4	1444	c.1250A>G	c.(1249-1251)AAG>AGG	p.K417R	ZNF441_uc002msn.3_Missense_Mutation_p.K373R	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ACTGGAGAGAAGCCATATAAA	0.363													G	11891889	A	G	11891889	3	3	19	1	0	0	0	0	1	0	0	0	17911	72	3	3	1264	3	ZNF441	19	11891889	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	239930	11891889	47237094	2877	17176											
ZNF439	90594	broad.mit.edu	37	chr19	11979050	11979050	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaatgcaagcaatgtggtaAagccttcactcgttccggtt	9	9	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:11979050A>G	uc002mss.2	+	3	1294	c.1166A>G	c.(1165-1167)AAA>AGA	p.K389R	ZNF439_uc002msr.2_Missense_Mutation_p.K253R	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	389	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						CAATGTGGTAAAGCCTTCACT	0.428													G	11979050	A	G	11979050	3	3	19	1	0	0	0	0	1	0	0	0	17908	14	1	3	1176	3	ZNF439	19	11979050	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	87161	11979050	47149933	2878	17177											
ZNF700	90592	broad.mit.edu	37	chr19	12060478	12060478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtggtaaagccttcagaTgttgcaattcccttcgatat	8	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:12060478T>C	uc002msu.2	+	4	1765	c.1639T>C	c.(1639-1641)TGT>CGT	p.C547R	ZNF700_uc010xme.1_Missense_Mutation_p.C565R|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	547	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGCCTTCAGATGTTGCAATTC	0.428													C	12060478	T	C	12060478	3	2	19	1	0	0	0	0	1	0	0	0	18101	1464	51	3	1653	3	ZNF700	19	12060478	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	81428	12060478	47068505	2879	17178											
ZNF799	90576	broad.mit.edu	37	chr19	12502150	12502150	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgtgagttctttcatgActtttcagtgaactaggaca	9	8	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:12502150A>G	uc010dyt.2	-	4	1212	c.1062T>C	c.(1060-1062)AGT>AGC	p.S354S	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	354	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						TTCTTTCATGACTTTTCAGTG	0.418													G	12502150	A	G	12502150	2	3	19	1	0	0	0	0	0	0	0	1	18163	272	10	3		3	ZNF799	19	12502150	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	441672	12502150	46626833	2880	17179											
ZNF709	163051	broad.mit.edu	37	chr19	12576123	12576123	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaggttgtgtgataaatgaAggccttcccacattccttac	8	9	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:12576123A>G	uc002mtv.3	-	4	774	c.613T>C	c.(613-615)TTC>CTC	p.F205L	ZNF709_uc002mtw.3_Missense_Mutation_p.F173L|ZNF709_uc002mtx.3_Missense_Mutation_p.F205L	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	zinc finger protein 709 isoform a	205	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGATAAATGAAGGCCTTCCCA	0.428													G	12576123	A	G	12576123	3	3	19	1	0	0	0	0	1	0	0	0	18110	72	3	3	1316	3	ZNF709	19	12576123	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	73973	12576123	46552860	2881	17180											
CALR	811	broad.mit.edu	37	chr19	13054412	13054412	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgatgaggcatacgctgaggAgtttggcaacgagacgtggg	17	7	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:13054412A>G	uc002mvu.2	+	8	1102	c.1022A>G	c.(1021-1023)GAG>GGG	p.E341G	CALR_uc002mvv.2_5'Flank|RAD23A_uc002mvw.1_5'Flank|RAD23A_uc002mvx.1_5'Flank|RAD23A_uc002mvz.1_5'Flank|RAD23A_uc002mwa.1_5'Flank|RAD23A_uc002mvy.1_5'Flank|RAD23A_uc010xmw.1_5'Flank	NM_004343	NP_004334	P27797	CALR_HUMAN	calreticulin precursor	341	C-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	TACGCTGAGGAGTTTGGCAAC	0.592													G	13054412	A	G	13054412	3	3	19	1	0	0	0	0	1	0	0	0	2592	304	11	3	1052	3	CALR	19	13054412	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	478289	13054412	46074571	2882	17181											
RAD23A	5886	broad.mit.edu	37	chr19	13058813	13058813	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaactttgtggtcgtcaTggtgaccaaggtgggtgacg	16	6	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:13058813T>C	uc002mvw.1	+	2	333	c.224T>C	c.(223-225)ATG>ACG	p.M75T	RAD23A_uc002mvx.1_Missense_Mutation_p.M75T|RAD23A_uc002mvz.1_Missense_Mutation_p.M75T|RAD23A_uc002mwa.1_Missense_Mutation_p.M75T|RAD23A_uc002mvy.1_5'UTR|RAD23A_uc010xmw.1_5'UTR	NM_005053	NP_005044	P54725	RD23A_HUMAN	UV excision repair protein RAD23 homolog A	75	Ubiquitin-like.				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)	1						GTGGTCGTCATGGTGACCAAG	0.562								NER					C	13058813	T	C	13058813	3	2	19	1	0	0	0	0	1	0	0	0	12982	1464	51	3	230	3	RAD23A	19	13058813	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	4401	13058813	46070170	2883	17182											
TRMT1	55621	broad.mit.edu	37	chr19	13226508	13226508	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggttttcactctctttcaGttcaaccttttcctcctctt	3	14	5	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:13226508G>A	uc002mwj.2	-	3	635	c.385C>T	c.(385-387)CTG>TTG	p.L129L	NACC1_uc002mwm.2_5'Flank|TRMT1_uc002mwk.2_Silent_p.L129L|TRMT1_uc002mwl.3_Silent_p.L129L|TRMT1_uc010xmz.1_5'UTR	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	129							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CTCTCTTTCAGTTCAACCTTT	0.572													A	13226508	G	A	13226508	2	1	19	1	0	0	0	0	0	0	0	1	16558	1020	36	4		4	TRMT1	19	13226508	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	167695	13226508	45902475	2884	17183											
RFX1	5989	broad.mit.edu	37	chr19	14077502	14077502	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtccccgggcccgacgccCtcaggcagcaccttgccctg	11	19	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:14077502C>A	uc002mxv.2	-	13	2066	c.1794G>T	c.(1792-1794)GAG>GAT	p.E598D		NM_002918	NP_002909	P22670	RFX1_HUMAN	regulatory factor X1	598					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			lung(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCCCGACGCCCTCAGGCAGCA	0.677													A	14077502	C	A	14077502	3	1	19	1	0	0	0	0	1	0	0	0	13262	680	24	5	1181	5	RFX1	19	14077502	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	850994	14077502	45051481	2885	17184											
RFX1	5989	broad.mit.edu	37	chr19	14094383	14094383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggctggcctccgacactGtctcgctggcccgcatggca	14	16	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:14094383G>A	uc002mxv.2	-	3	616	c.344C>T	c.(343-345)ACA>ATA	p.T115I	RFX1_uc010dzi.2_Missense_Mutation_p.T115I	NM_002918	NP_002909	P22670	RFX1_HUMAN	regulatory factor X1	115					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			lung(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CTCCGACACTGTCTCGCTGGC	0.682													A	14094383	G	A	14094383	3	1	19	1	0	0	0	0	1	0	0	0	13262	1377	48	4	2671	4	RFX1	19	14094383	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	16881	14094383	45034600	2886	17185											
IL27RA	9466	broad.mit.edu	37	chr19	14150709	14150709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccgaagatgtcaggaggCggcctggaccctggtgagtg	16	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:14150709C>T	uc002mxx.2	+	4	944	c.521C>T	c.(520-522)GCG>GTG	p.A174V		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	class I cytokine receptor precursor	174	Extracellular (Potential).|Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0						TGTCAGGAGGCGGCCTGGACC	0.592													T	14150709	C	T	14150709	3	4	19	1	0	0	0	0	1	0	0	0	7681	768	27	1	535	1	IL27RA	19	14150709	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	56326	14150709	44978274	2887	17186											
LPHN1	22859	broad.mit.edu	37	chr19	14271413	14271413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggctggtaccttctgggCcacctggttgacccaggggg	17	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:14271413C>T	uc010xnn.1	-	8	1917	c.1621G>A	c.(1621-1623)GCC>ACC	p.A541T	LPHN1_uc010xno.1_Missense_Mutation_p.A536T|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	541	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						ACCTTCTGGGCCACCTGGTTG	0.682													T	14271413	C	T	14271413	3	4	19	1	0	0	0	0	1	0	0	0	8915	739	26	2	2871	2	LPHN1	19	14271413	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	120704	14271413	44857570	2888	17187											
DDX39	10212	broad.mit.edu	37	chr19	14520628	14520628	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctttgagtttgacgtagtActgctgcaggccgtgcagcg	14	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:14520628A>G	uc010xnp.1	-	7	835	c.790T>C	c.(790-792)TAC>CAC	p.Y264H	DDX39_uc002myo.2_Missense_Mutation_p.Y264H|DDX39_uc010dzl.2_RNA	NM_005804	NP_005795	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39	264	Helicase C-terminal.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding				0						TTGACGTAGTACTGCTGCAGG	0.562													G	14520628	A	G	14520628	3	3	19	1	0	0	0	0	1	0	0	0	4357	391	14	3	513	3	DDX39	19	14520628	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	249215	14520628	44608355	2889	17188											
OR7A5	26659	broad.mit.edu	37	chr19	14938274	14938274	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgggtggcagcagaactAaggtacacccctaggattgc	13	10	0	1	rs146377382	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:14938274A>G	uc002mzw.2	-	1	1003	c.780T>C	c.(778-780)CTT>CTC	p.L260L	OR7A5_uc010xoa.1_Silent_p.L260L	NM_017506	NP_059976	Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A,	260	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)	2						CAGCAGAACTAAGGTACACCC	0.493													G	14938274	A	G	14938274	2	3	19	1	0	0	0	0	0	0	0	1	11216	349	13	3		3	OR7A5	19	14938274	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	417646	14938274	44190709	2890	17189											
OR7A17	26333	broad.mit.edu	37	chr19	14991549	14991549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccacaaggggaccaccagCcagcagccctgctgcaaaat	9	17	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:14991549C>T	uc010xob.1	-	1	619	c.619G>A	c.(619-621)GCT>ACT	p.A207T		NM_030901	NP_112163	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A,	207	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)					GGACCACCAGCCAGCAGCCCT	0.478													T	14991549	C	T	14991549	3	4	19	1	0	0	0	0	1	0	0	0	11215	739	26	2	312	2	OR7A17	19	14991549	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	53275	14991549	44137434	2891	17190											
NOTCH3	4854	broad.mit.edu	37	chr19	15296182	15296182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaggctctggctgcagcGggggccactccagccaggct	16	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:15296182G>A	uc002nan.2	-	14	2258	c.2182C>T	c.(2182-2184)CGC>TGC	p.R728C	NOTCH3_uc002nao.1_Missense_Mutation_p.R728C	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	728	Extracellular (Potential).|EGF-like 18.		R -> C (in CADASIL).		Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGGCTGCAGCGGGGGCCACTC	0.682													A	15296182	G	A	15296182	3	1	19	1	0	0	0	0	1	0	0	0	10550	1116	39	1	4863	1	NOTCH3	19	15296182	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	304633	15296182	43832801	2892	17191											
BRD4	23476	broad.mit.edu	37	chr19	15367880	15367880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgtcgctggatgagggCggggccacaaccttggtggg	18	10	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:15367880C>T	uc002nar.2	-	8	1668	c.1446G>A	c.(1444-1446)CCG>CCA	p.P482P	BRD4_uc002nas.2_Silent_p.P482P|BRD4_uc002nat.3_Silent_p.P482P|BRD4_uc002nau.3_Silent_p.P482P	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	482					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)			TGGATGAGGGCGGGGCCACAA	0.647			T	NUT|C15orf55	lethal midline carcinoma of young people								T	15367880	C	T	15367880	2	4	19	1	0	0	0	0	0	0	0	1	1504	755	27	1		1	BRD4	19	15367880	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	71698	15367880	43761103	2893	17192											
OR10H2	26538	broad.mit.edu	37	chr19	15838975	15838975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacctgttcacgctgctggGcaacctgctcatcatggcca	10	14	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:15838975G>A	uc002nbm.2	+	1	142	c.122G>A	c.(121-123)GGC>GAC	p.G41D		NM_013939	NP_039227	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H,	41	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					ACGCTGCTGGGCAACCTGCTC	0.582													A	15838975	G	A	15838975	3	1	19	1	0	0	0	0	1	0	0	0	10906	1203	42	2	124	2	OR10H2	19	15838975	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	471095	15838975	43290008	2894	17193											
CYP4F11	57834	broad.mit.edu	37	chr19	16024702	16024702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatctcagccatggcgaacGcctgcccgatgcagtttctg	10	14	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:16024702G>A	uc002nbu.2	-	13	1451	c.1415C>T	c.(1414-1416)GCG>GTG	p.A472V	CYP4F11_uc010eab.1_Silent_p.G450G|CYP4F11_uc002nbt.2_Missense_Mutation_p.A472V	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	472					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1						CATGGCGAACGCCTGCCCGAT	0.622													A	16024702	G	A	16024702	3	1	19	1	0	0	0	0	1	0	0	0	4186	1087	38	1	163	1	CYP4F11	19	16024702	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	185727	16024702	43104281	2895	17194											
EPS15L1	58513	broad.mit.edu	37	chr19	16515477	16515477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttctgctggtccatctcGtccaggcggtcttgagcatc	11	14	3	1	rs145683476		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:16515477G>A	uc002ndz.1	-	14	1356	c.1350C>T	c.(1348-1350)GAC>GAT	p.D450D	EPS15L1_uc002ndx.2_Silent_p.D450D|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.D340D|EPS15L1_uc010xpf.1_Silent_p.D353D|EPS15L1_uc002nea.1_Silent_p.D450D|EPS15L1_uc010eah.1_Silent_p.D450D|EPS15L1_uc002neb.1_Silent_p.D296D|EPS15L1_uc002nec.1_Silent_p.D450D	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway	450					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)|skin(2)	5						GGTCCATCTCGTCCAGGCGGT	0.582													A	16515477	G	A	16515477	2	1	19	1	0	0	0	0	0	0	0	1	5193	1136	40	1		1	EPS15L1	19	16515477	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	490775	16515477	42613506	2896	17195											
TMEM38A	79041	broad.mit.edu	37	chr19	16793252	16793252	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctggtgtcgccctcatgTccaactttgagcagctgctc	10	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:16793252T>C	uc002nes.2	+	4	578	c.487T>C	c.(487-489)TCC>CCC	p.S163P		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	163	Helical; (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|ovary(1)	3						CGCCCTCATGTCCAACTTTGA	0.557													C	16793252	T	C	16793252	3	2	19	1	0	0	0	0	1	0	0	0	16156	1667	58	3	501	3	TMEM38A	19	16793252	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	277775	16793252	42335731	2897	17196											
ANO8	57719	broad.mit.edu	37	chr19	17435828	17435828	+	Frame_Shift_Del	DEL	G	G	-													tgcctgtgggtgactgggcaGggggaggccgggtggtggct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:17435827_17435827AG>A	uc002ngf.2	-	16	3189	c.3030_3030CT>T	c.(3028-3030)cctfs	p.P1010fs	ANO8_uc010eap.2_Non-coding_Transcript	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	Homo sapiens anoctamin 8 (ANO8), mRNA.	1010						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GTGACTGGGCAGGGGGAGGCC	0.652													-	17435828	G	-	17435828	7	5	19	1	0	1	0	1	0	0	0	0	703	1000	35	0	677	0	ANO8	19	17435828	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	642576	17435828	41693155	2898	17197											
ANO8	57719	broad.mit.edu	37	chr19	17439208	17439208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgccgggagccccctcCgcctcgtcgtcctcctcggc	13	20	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:17439208C>T	uc002ngf.2	-	13	2148	c.1989G>A	c.(1987-1989)GCG>GCA	p.A663A	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	663	Glu-rich.|Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(3)	3						GAGCCCCCTCCGCCTCGTCGT	0.736													T	17439208	C	T	17439208	2	4	19	1	0	0	0	0	0	0	0	1	703	639	23	1		1	ANO8	19	17439208	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3380	17439208	41689775	2899	17198											
UNC13A	23025	broad.mit.edu	37	chr19	17752329	17752329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgggatcttcacgacccCattgttctgcacgtcggtca	9	13	5	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:17752329C>T	uc002nhd.2	-	21	2773	c.2773G>A	c.(2773-2775)GGG>AGG	p.G925R		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	837					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						TTCACGACCCCATTGTTCTGC	0.572													T	17752329	C	T	17752329	3	4	19	1	0	0	0	0	1	0	0	0	16981	594	21	4	2694	4	UNC13A	19	17752329	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	313121	17752329	41376654	2900	17199											
KIAA1683	80726	broad.mit.edu	37	chr19	18376471	18376471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggatggagccccagccatttCcactgccacactggtcttaa	9	14	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:18376471C>T	uc002nin.2	-	3	2095	c.1879G>A	c.(1879-1881)GAA>AAA	p.E627K	KIAA1683_uc010ebn.2_Missense_Mutation_p.E627K|KIAA1683_uc010xqe.1_Missense_Mutation_p.E581K	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	627						mitochondrion				ovary(2)	2						CCAGCCATTTCCACTGCCACA	0.557													T	18376471	C	T	18376471	3	4	19	1	0	0	0	0	1	0	0	0	8251	864	30	4	2232	4	KIAA1683	19	18376471	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	624142	18376471	40752512	2901	17200											
CRLF1	9244	broad.mit.edu	37	chr19	18705140	18705140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggttggagcagtacgcgtGcttcttgagccagcccagga	15	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:18705140G>A	uc010ebt.1	-	7	1323	c.1129C>T	c.(1129-1131)CAC>TAC	p.H377Y		NM_004750	NP_004741	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1 precursor	377					negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(1)	1						CAGTACGCGTGCTTCTTGAGC	0.592													A	18705140	G	A	18705140	3	1	19	1	0	0	0	0	1	0	0	0	3886	1319	46	2	151	2	CRLF1	19	18705140	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	328669	18705140	40423843	2902	17201											
CRTC1	23373	broad.mit.edu	37	chr19	18887993	18887994	+	Frame_Shift_Ins	INS	-	-	C													cccccagtgacaggagagtcINScccccccagcctctctaaag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:18887992_18887993T>TC	uc010ebv.3	+	14	1841_1842	c.1753_1754T>TC	c.(1753-1755)tccfs	p.S585fs	CRTC1_uc002nkb.4_Frame_Shift_Ins_p.S569fs|CRTC1_uc010ebw.3_Frame_Shift_Ins_p.S405fs	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	569					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	p.S572fs*6(2)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GACAGGAGAGTCCCCCCCCAGC	0.639													C	18887994	-	C	18887993	7	5	19	1	0	1	1	0	0	0	0	0	3899	855	30	0	1812	0	CRTC1	19	18887993	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	182853	18887993	40240990	2903	17202											
TMEM161A	54929	broad.mit.edu	37	chr19	19231660	19231660	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacggtcacatagcagtagActcggaccacctgtgggcag	12	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:19231660A>G	uc002nlg.2	-	11	1130	c.1100T>C	c.(1099-1101)GTC>GCC	p.V367A	TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Missense_Mutation_p.V342A|TMEM161A_uc002nli.2_Missense_Mutation_p.V264A|TMEM161A_uc002nlj.2_Missense_Mutation_p.V242A	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	transmembrane protein 161A precursor	367	Extracellular (Potential).				cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)	2			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			ATAGCAGTAGACTCGGACCAC	0.622													G	19231660	A	G	19231660	3	3	19	1	0	0	0	0	1	0	0	0	16073	275	10	3	347	3	TMEM161A	19	19231660	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	343667	19231660	39897323	2904	17203											
CILP2	148113	broad.mit.edu	37	chr19	19654938	19654938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacttttgtggaccccagCggtgagttcatggacgctgt	14	9	1	2	rs112868711		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:19654938C>T	uc002nmv.3	+	8	1669	c.1584C>T	c.(1582-1584)AGC>AGT	p.S528S	CILP2_uc002nmw.3_Silent_p.S534S	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	528						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						TGGACCCCAGCGGTGAGTTCA	0.622													T	19654938	C	T	19654938	2	4	19	1	0	0	0	0	0	0	0	1	3430	767	27	1		1	CILP2	19	19654938	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	423278	19654938	39474045	2905	17204											
GMIP	51291	broad.mit.edu	37	chr19	19745393	19745393	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaagagggtcttcagcgaGcggataacctcagggctggg	15	10	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:19745393G>A	uc002nnd.2	-	18	2124	c.2007C>T	c.(2005-2007)CGC>CGT	p.R669R	GMIP_uc010xrb.1_Silent_p.R643R|GMIP_uc010xrc.1_Silent_p.R640R	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	669	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						TCTTCAGCGAGCGGATAACCT	0.607													A	19745393	G	A	19745393	2	1	19	1	0	0	0	0	0	0	0	1	6491	958	34	2		2	GMIP	19	19745393	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	90455	19745393	39383590	2906	17205											
ZNF43	7594	broad.mit.edu	37	chr19	21992087	21992088	+	Frame_Shift_Ins	INS	-	-	T													gagtttgtatctagtataatINStttttttatgtgtagtaagg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:21992086_21992087A>AT	uc002nqj.3	-	3	882_883	c.752_753T>AT	c.(751-753)aatfs	p.N251fs	ZNF43_uc002nql.3_Frame_Shift_Ins_p.N245fs|ZNF43_uc002nqm.3_Frame_Shift_Ins_p.N245fs|ZNF43_uc010ecv.3_Frame_Shift_Ins_p.N245fs|ZNF43_uc002nqk.3_Frame_Shift_Ins_p.N181fs	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATCTAGTATAATTTTTTTTATG	0.347													T	21992088	-	T	21992087	7	5	19	1	0	1	1	0	0	0	0	0	17900	1493	52	0	1681	0	ZNF43	19	21992087	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	2246694	21992087	37136896	2907	17206											
ZNF208	7757	broad.mit.edu	37	chr19	22155254	22155254	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccacattcttcacatttgTagggtttctctccagtatga	7	10	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:22155254T>C	uc002nqp.2	-	5	2431	c.2282A>G	c.(2281-2283)TAC>TGC	p.Y761C	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCACATTTGTAGGGTTTCTC	0.373													C	22155254	T	C	22155254	3	2	19	1	0	0	0	0	1	0	0	0	17763	1638	57	3	1264	3	ZNF208	19	22155254	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	163167	22155254	36973729	2908	17207											
ZNF257	113835	broad.mit.edu	37	chr19	22255700	22255700	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagcagaatttatatagggaTgtgatgttagagaactacag	11	4	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:22255700T>A	uc010ecx.2	+	2	262	c.93T>A	c.(91-93)GAT>GAA	p.D31E	ZNF257_uc010ecy.2_5'UTR	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				TATATAGGGATGTGATGTTAG	0.398													A	22255700	T	A	22255700	3	1	19	1	0	0	0	0	1	0	0	0	17797	1461	51	5	99	5	ZNF257	19	22255700	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	100446	22255700	36873283	2909	17208											
ZNF254	9534	broad.mit.edu	37	chr19	24309406	24309406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacataaaacccaacacaaaAgcatttatcatagagagaag	5	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:24309406A>G	uc002nru.2	+	4	738	c.604A>G	c.(604-606)AGC>GGC	p.S202G	ZNF254_uc010xrk.1_Missense_Mutation_p.S117G	NM_203282	NP_975011	O75437	ZN254_HUMAN	zinc finger protein 254	202					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CCAACACAAAAGCATTTATCA	0.303													G	24309406	A	G	24309406	3	3	19	1	0	0	0	0	1	0	0	0	17795	72	3	3	618	3	ZNF254	19	24309406	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2053706	24309406	34819577	2910	17209											
PLEKHF1	79156	broad.mit.edu	37	chr19	30164923	30164923	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatcttcttcctctttaaCgacatcctggtgtatggcag	8	12	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:30164923C>T	uc002nsh.3	+	2	279	c.177C>T	c.(175-177)AAC>AAT	p.N59N	PLEKHF1_uc002nsi.3_Silent_p.N144N	NM_024310	NP_077286	Q96S99	PKHF1_HUMAN	apoptosis-inducing protein D	59	PH.				apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding				0	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			TCCTCTTTAACGACATCCTGG	0.622													T	30164923	C	T	30164923	2	4	19	1	0	0	0	0	0	0	0	1	12066	535	19	1		1	PLEKHF1	19	30164923	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	5855517	30164923	28964060	2911	17210											
ZNF536	9745	broad.mit.edu	37	chr19	30934517	30934517	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcttcggcggagccggaAgctgagccccacctgagtgg	16	12	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:30934517A>T	uc002nsu.1	+	2	186	c.48A>T	c.(46-48)GAA>GAT	p.E16D	ZNF536_uc010edd.1_Missense_Mutation_p.E16D	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CGGAGCCGGAAGCTGAGCCCC	0.627													T	30934517	A	T	30934517	3	4	19	1	0	0	0	0	1	0	0	0	17971	69	3	5	50	5	ZNF536	19	30934517	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	769594	30934517	28194466	2912	17211											
ZNF536	9745	broad.mit.edu	37	chr19	31039479	31039479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgtgcggccagatgccGcctccctcccgggctcctcg	12	18	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:31039479G>A	uc002nsu.1	+	4	3091	c.2953G>A	c.(2953-2955)GCC>ACC	p.A985T	ZNF536_uc010edd.1_Missense_Mutation_p.A985T	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	985					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GCCAGATGCCGCCTCCCTCCC	0.577													A	31039479	G	A	31039479	3	1	19	1	0	0	0	0	1	0	0	0	17971	1087	38	1	2963	1	ZNF536	19	31039479	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	104962	31039479	28089504	2913	17212											
ZNF536	9745	broad.mit.edu	37	chr19	31040415	31040415	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatgtatcaagaggccagacTtgtgtggtaagttttagaat	12	4	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:31040415T>A	uc002nsu.1	+	4	4027	c.3889T>A	c.(3889-3891)TTG>ATG	p.L1297M	ZNF536_uc010edd.1_Missense_Mutation_p.L1297M	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GAGGCCAGACTTGTGTGGTAA	0.428													A	31040415	T	A	31040415	3	1	19	1	0	0	0	0	1	0	0	0	17971	1606	56	5	3899	5	ZNF536	19	31040415	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	936	31040415	28088568	2914	17213											
ZNF507	22847	broad.mit.edu	37	chr19	32845706	32845706	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggcaacaagggctacatcaAgcagcacttacgagtccatc	9	12	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:32845706A>T	uc002nte.2	+	3	2242	c.1970A>T	c.(1969-1971)AAG>ATG	p.K657M	ZNF507_uc002ntc.2_Missense_Mutation_p.K657M|ZNF507_uc010xrn.1_Missense_Mutation_p.K657M|ZNF507_uc002ntd.2_Missense_Mutation_p.K657M	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	657	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(110;0.162)					GGCTACATCAAGCAGCACTTA	0.502													T	32845706	A	T	32845706	3	4	19	1	0	0	0	0	1	0	0	0	17950	72	3	5	1972	5	ZNF507	19	32845706	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1805291	32845706	26283277	2915	17214											
DPY19L3	147991	broad.mit.edu	37	chr19	32930061	32930061	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccatcccactgagggagAactgggcgctgccattcttt	10	12	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:32930061A>G	uc002ntg.2	+	7	816	c.640A>G	c.(640-642)AAC>GAC	p.N214D	DPY19L3_uc002nth.1_Missense_Mutation_p.N214D|DPY19L3_uc002nti.1_RNA	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3	214						integral to membrane				ovary(4)	4	Esophageal squamous(110;0.162)					ACTGAGGGAGAACTGGGCGCT	0.378													G	32930061	A	G	32930061	3	3	19	1	0	0	0	0	1	0	0	0	4742	246	9	3	662	3	DPY19L3	19	32930061	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	84355	32930061	26198922	2916	17215											
ANKRD27	84079	broad.mit.edu	37	chr19	33113449	33113449	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagcgggcagcaatgtgtAgaggggtgtctcctttctca	13	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:33113449A>G	uc002ntn.1	-	18	1862	c.1706T>C	c.(1705-1707)CTA>CCA	p.L569P		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	569	ANK 5.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)					AGCAATGTGTAGAGGGGTGTC	0.547													G	33113449	A	G	33113449	3	3	19	1	0	0	0	0	1	0	0	0	655	420	15	3	1494	3	ANKRD27	19	33113449	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	183388	33113449	26015534	2917	17216											
RHPN2	85415	broad.mit.edu	37	chr19	33499019	33499019	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagagggccccagtgttgaAcaggacactggccttctcca	12	12	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:33499019A>G	uc002nuf.2	-	7	727	c.661T>C	c.(661-663)TTC>CTC	p.F221L	RHPN2_uc010xro.1_Missense_Mutation_p.F70L|RHPN2_uc002nue.2_5'UTR	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	221	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			central_nervous_system(5)|ovary(1)	6	Esophageal squamous(110;0.137)					CCAGTGTTGAACAGGACACTG	0.572													G	33499019	A	G	33499019	3	3	19	1	0	0	0	0	1	0	0	0	13351	43	2	3	1435	3	RHPN2	19	33499019	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	385570	33499019	25629964	2918	17217											
KIAA0355	9710	broad.mit.edu	37	chr19	34843573	34843573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataacaaaaccaaaacgtggCcacccaaagcaccctggcag	7	14	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:34843573C>T	uc002nvd.3	+	14	3785	c.2926C>T	c.(2926-2928)CCA>TCA	p.P976S		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	976										ovary(1)	1	Esophageal squamous(110;0.162)					CAAAACGTGGCCACCCAAAGC	0.567													T	34843573	C	T	34843573	3	4	19	1	0	0	0	0	1	0	0	0	8170	739	26	2	2976	2	KIAA0355	19	34843573	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1344554	34843573	24285410	2919	17218											
UBA2	10054	broad.mit.edu	37	chr19	34945231	34945231	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcatattttcagtatgAatatgaagagtagatttgat	10	2	1	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:34945231A>G	uc002nvk.2	+	11	1175	c.1105A>G	c.(1105-1107)AAT>GAT	p.N369D	UBA2_uc010xrx.1_Missense_Mutation_p.N242D|UBA2_uc002nvl.2_Missense_Mutation_p.N273D	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	369					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TTTCAGTATGAATATGAAGAG	0.323													G	34945231	A	G	34945231	3	3	19	1	0	0	0	0	1	0	0	0	16825	246	9	3	1147	3	UBA2	19	34945231	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	101658	34945231	24183752	2920	17219											
SCGBL	284402	broad.mit.edu	37	chr19	35085248	35085248	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcaagcagtttatcgatAtccaggcaggcatcccctgt	9	12	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:35085248A>G	uc002nvn.2	-	2	100	c.78T>C	c.(76-78)GAT>GAC	p.D26D		NM_001025591	NP_001020762	Q4G0G5	SCGBL_HUMAN	secretoglobin-like precursor	26						extracellular region	binding				0						GTTTATCGATATCCAGGCAGG	0.517													G	35085248	A	G	35085248	2	3	19	1	0	0	0	0	0	0	0	1	13902	446	16	3		3	SCGBL	19	35085248	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	140017	35085248	24043735	2921	17220											
LGI4	163175	broad.mit.edu	37	chr19	35617396	35617396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgtgtcccggtgccaggcGtgcaggctctggtgcgggta	17	12	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:35617396G>A	uc002nxx.2	-	8	1671	c.1077C>T	c.(1075-1077)CAC>CAT	p.H359H	LGI4_uc002nxy.1_Silent_p.H187H|LGI4_uc002nxz.1_Silent_p.H187H	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	359	EAR 2.					extracellular region				pancreas(1)	1	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GGTGCCAGGCGTGCAGGCTCT	0.716													A	35617396	G	A	35617396	2	1	19	1	0	0	0	0	0	0	0	1	8754	1136	40	1		1	LGI4	19	35617396	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	532148	35617396	23511587	2922	17221											
GAPDHS	26330	broad.mit.edu	37	chr19	36027760	36027760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctaaggctgaagtagagcCccagccacaaccagagccca	10	15	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:36027760C>T	uc002oaf.1	+	2	229	c.113C>T	c.(112-114)CCC>CTC	p.P38L		NM_014364	NP_055179	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase,	38					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	GAAGTAGAGCCCCAGCCACAA	0.587													T	36027760	C	T	36027760	3	4	19	1	0	0	0	0	1	0	0	0	6237	623	22	4	119	4	GAPDHS	19	36027760	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	410364	36027760	23101223	2923	17222											
ATP4A	495	broad.mit.edu	37	chr19	36046378	36046378	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacgatcaccagcttctgCtgggggctggtgcgcgcaaa	13	13	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:36046378C>T	uc002oal.1	-	14	2150	c.2121G>A	c.(2119-2121)CAG>CAA	p.Q707Q	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	707	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CCAGCTTCTGCTGGGGGCTGG	0.662													T	36046378	C	T	36046378	2	4	19	1	0	0	0	0	0	0	0	1	1145	796	28	2		2	ATP4A	19	36046378	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	18618	36046378	23082605	2924	17223											
UPK1A	11045	broad.mit.edu	37	chr19	36157789	36157789	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgctagttgtgggcaatatCattattctggtgagactcgc	11	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:36157789C>T	uc002oaw.2	+	1	75	c.75C>T	c.(73-75)ATC>ATT	p.I25I	UPK1A_uc010eeh.2_Silent_p.I25I	NM_007000	NP_008931	O00322	UPK1A_HUMAN	uroplakin 1A	25	Helical; (Potential).				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity				0	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGGCAATATCATTATTCTGG	0.612													T	36157789	C	T	36157789	2	4	19	1	0	0	0	0	0	0	0	1	17004	816	29	4		4	UPK1A	19	36157789	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	111411	36157789	22971194	2925	17224											
MLL4	9757	broad.mit.edu	37	chr19	36211882	36211882	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcatcaagacaccccggCgatttatggatgaagacccc	10	12	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:36211882C>T	uc010eei.2	+	3	1633	c.1633C>T	c.(1633-1635)CGA>TGA	p.R545*		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	545	Pro-rich.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GACACCCCGGCGATTTATGGA	0.592													T	36211882	C	T	36211882	4	4	19	1	0	0	0	0	0	1	0	0	9623	760	27	1	1643	1	MLL4	19	36211882	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	54093	36211882	22917101	2926	17225											
MLL4	9757	broad.mit.edu	37	chr19	36221488	36221488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctgatctctcggactgCgagggacggctcttccccat	11	14	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:36221488C>T	uc010eei.2	+	26	5247	c.5247C>T	c.(5245-5247)TGC>TGT	p.C1749C		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1749	FYR N-terminal.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCTCGGACTGCGAGGGACGGC	0.602													T	36221488	C	T	36221488	2	4	19	1	0	0	0	0	0	0	0	1	9623	776	27	1		1	MLL4	19	36221488	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	9606	36221488	22907495	2927	17226											
KIRREL2	84063	broad.mit.edu	37	chr19	36347987	36347987	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagttgacgggaaggccaGtgcgacggcaaatctcgtga	15	8	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:36347987G>A	uc002ocb.3	+	1	178	c.-34G>A	c.(-36--32)CAGTG>CAATG		KIRREL2_uc002obz.3_Translation_Start_Site|KIRREL2_uc002oca.3_Translation_Start_Site|KIRREL2_uc002occ.3_Translation_Start_Site|KIRREL2_uc002ocd.3_Translation_Start_Site	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c						cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGAAGGCCAGTGCGACGGCA	0.632													A	36347987	G	A	36347987	1	1	19	1	0	0	0	0	0	0	0	0	8325	1044	36	4		4	KIRREL2	19	36347987	Translation_Start_Site	SNP	G	TCGA-BR-4361-01A-01D-1158-08	126499	36347987	22780996	2928	17227											
APLP1	333	broad.mit.edu	37	chr19	36363449	36363449	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgcctggggaaatcagTgagcacgaggggttcctgag	17	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:36363449T>C	uc002oce.2	+	7	1053	c.915T>C	c.(913-915)AGT>AGC	p.S305S	APLP1_uc010xsz.1_Silent_p.S266S|APLP1_uc002ocf.2_Silent_p.S305S|APLP1_uc002ocg.2_Silent_p.S208S|APLP1_uc010xta.1_Silent_p.S299S	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	305	Extracellular (Potential).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			ovary(2)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGAAATCAGTGAGCACGAGG	0.587													C	36363449	T	C	36363449	2	2	19	1	0	0	0	0	0	0	0	1	778	1693	59	3		3	APLP1	19	36363449	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	15462	36363449	22765534	2929	17228											
APLP1	333	broad.mit.edu	37	chr19	36369508	36369508	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacagaacaagatgctgcAtcccctgagaaagagaagat	9	10	0	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:36369508A>G	uc002oce.2	+	14	1737	c.1599A>G	c.(1597-1599)GCA>GCG	p.A533A	APLP1_uc010xsz.1_Silent_p.A494A|APLP1_uc002ocf.2_Silent_p.A534A|APLP1_uc002ocg.2_Silent_p.A437A|APLP1_uc010xta.1_Silent_p.A527A	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	533	Extracellular (Potential).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			ovary(2)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGATGCTGCATCCCCTGAGA	0.338													G	36369508	A	G	36369508	2	3	19	1	0	0	0	0	0	0	0	1	778	204	8	3		3	APLP1	19	36369508	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	6059	36369508	22759475	2930	17229											
ZNF565	147929	broad.mit.edu	37	chr19	36674430	36674430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgtgtgatgctggaacacGggcatatgtccataggtgac	14	8	0	2	rs146738582		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:36674430G>A	uc002odn.2	-	5	546	c.438C>T	c.(436-438)CCC>CCT	p.P146P	ZNF565_uc010ees.2_Silent_p.P81P|ZNF565_uc002odo.2_Silent_p.P146P	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	zinc finger protein 565	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			GCTGGAACACGGGCATATGTC	0.478													A	36674430	G	A	36674430	2	1	19	1	0	0	0	0	0	0	0	1	17993	1103	39	1		1	ZNF565	19	36674430	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	304922	36674430	22454553	2931	17230											
ZNF790	388536	broad.mit.edu	37	chr19	37309566	37309566	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttcttgcatccataaggTtctgcatcagtatgaatttt	6	8	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:37309566T>C	uc002oew.2	-	5	1799	c.1680A>G	c.(1678-1680)GAA>GAG	p.E560E	uc002oev.1_Intron	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	zinc finger protein 790	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATCCATAAGGTTCTGCATCAG	0.363													C	37309566	T	C	37309566	2	2	19	1	0	0	0	0	0	0	0	1	18159	1722	60	3		3	ZNF790	19	37309566	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	635136	37309566	21819417	2932	17231											
ZNF829	374899	broad.mit.edu	37	chr19	37383068	37383068	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacattcatagggtttttTaccagtgtgaatcctctgat	7	8	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:37383068T>C	uc002ofa.1	-	6	987	c.625A>G	c.(625-627)AAA>GAA	p.K209E	ZNF345_uc002oez.2_Intron	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGGGTTTTTTACCAGTGTGA	0.393													C	37383068	T	C	37383068	3	2	19	1	0	0	0	0	1	0	0	0	18179	1763	61	3	677	3	ZNF829	19	37383068	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	73502	37383068	21745915	2933	17232											
ZNF570	148268	broad.mit.edu	37	chr19	37975066	37975066	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccactgctttgtacacaaaAgataatccccaaagaggaga	7	11	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:37975066A>C	uc002ogk.1	+	5	1071	c.542A>C	c.(541-543)AAG>ACG	p.K181T	ZNF570_uc010efl.1_Missense_Mutation_p.K237T|ZNF570_uc010xtr.1_5'UTR	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	zinc finger protein 570	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTACACAAAAGATAATCCCC	0.363													C	37975066	A	C	37975066	3	2	19	1	0	0	0	0	1	0	0	0	17999	72	3	5	556	5	ZNF570	19	37975066	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	591998	37975066	21153917	2934	17233											
ZNF540	163255	broad.mit.edu	37	chr19	38103201	38103201	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcttttagtgtatgcggAcaacttacccgtcatcagaa	8	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:38103201A>G	uc002ogq.2	+	5	1352	c.1020A>G	c.(1018-1020)GGA>GGG	p.G340G	ZNF540_uc002ogu.2_Silent_p.G340G|ZNF540_uc010efq.2_Silent_p.G308G	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	340	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGTATGCGGACAACTTACCC	0.353													G	38103201	A	G	38103201	2	3	19	1	0	0	0	0	0	0	0	1	17972	262	10	3		3	ZNF540	19	38103201	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	128135	38103201	21025782	2935	17234											
ZNF781	163115	broad.mit.edu	37	chr19	38160950	38160950	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttccacatatctgacattCatagggtttctgattagcat	6	9	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:38160950C>T	uc002ogy.2	-	4	842	c.100G>A	c.(100-102)GAA>AAA	p.E34K	ZNF781_uc002ogz.2_Missense_Mutation_p.E29K	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	34	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATCTGACATTCATAGGGTTTC	0.378													T	38160950	C	T	38160950	3	4	19	1	0	0	0	0	1	0	0	0	18151	835	29	4	887	4	ZNF781	19	38160950	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	57749	38160950	20968033	2936	17235											
SIPA1L3	23094	broad.mit.edu	37	chr19	38621343	38621343	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccacgaccagatgatcgAcctgctgcgcacctctgtca	9	16	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:38621343A>G	uc002ohk.2	+	10	3583	c.3074A>G	c.(3073-3075)GAC>GGC	p.D1025G		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1025	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGATGATCGACCTGCTGCGC	0.632													G	38621343	A	G	38621343	3	3	19	1	0	0	0	0	1	0	0	0	14331	275	10	3	3104	3	SIPA1L3	19	38621343	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	460393	38621343	20507640	2937	17236											
DPF1	8193	broad.mit.edu	37	chr19	38713211	38713211	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcggtgggtcttctccAtccagatgtagcagttgttc	12	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:38713211A>G	uc002ohl.2	-	2	275	c.248T>C	c.(247-249)ATG>ACG	p.M83T	DPF1_uc002ohm.2_Missense_Mutation_p.M83T|DPF1_uc002ohn.2_Missense_Mutation_p.M1T|DPF1_uc010xtu.1_Missense_Mutation_p.M57T|DPF1_uc010xtv.1_Missense_Mutation_p.M57T|DPF1_uc010xtw.1_Missense_Mutation_p.M57T	NM_004647	NP_004638	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1 isoform	83					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding				0	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGTCTTCTCCATCCAGATGTA	0.557													G	38713211	A	G	38713211	3	3	19	1	0	0	0	0	1	0	0	0	4716	217	8	3	1070	3	DPF1	19	38713211	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	91868	38713211	20415772	2938	17237											
DPF1	8193	broad.mit.edu	37	chr19	38713250	38713250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgggccacgccggtctgcGagtcgaggaagggcagtcgc	17	12	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:38713250G>A	uc002ohl.2	-	2	236	c.209C>T	c.(208-210)TCG>TTG	p.S70L	DPF1_uc002ohm.2_Missense_Mutation_p.S70L|DPF1_uc002ohn.2_5'UTR|DPF1_uc010xtu.1_Missense_Mutation_p.S44L|DPF1_uc010xtv.1_Missense_Mutation_p.S44L|DPF1_uc010xtw.1_Missense_Mutation_p.S44L	NM_004647	NP_004638	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1 isoform	70					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding				0	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCGGTCTGCGAGTCGAGGAA	0.632													A	38713250	G	A	38713250	3	1	19	1	0	0	0	0	1	0	0	0	4716	1059	37	1	1109	1	DPF1	19	38713250	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	39	38713250	20415733	2939	17238											
RYR1	6261	broad.mit.edu	37	chr19	38934419	38934419	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggccttcgatgtgggacTgcaggaggacgcaacaggtg	17	9	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:38934419T>G	uc002oit.2	+	5	537	c.407T>G	c.(406-408)CTG>CGG	p.L136R	RYR1_uc002oiu.2_Missense_Mutation_p.L136R	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	136	Cytoplasmic.|MIR 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GATGTGGGACTGCAGGAGGAC	0.622													G	38934419	T	G	38934419	3	3	19	1	0	0	0	0	1	0	0	0	13768	1580	55	5	425	5	RYR1	19	38934419	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	221169	38934419	20194564	2940	17239											
RYR1	6261	broad.mit.edu	37	chr19	38948774	38948774	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtgatggtggacgaggTgactccatttctgacagctc	14	8	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:38948774T>C	uc002oit.2	+	18	2139	c.2009T>C	c.(2008-2010)GTG>GCG	p.V670A	RYR1_uc002oiu.2_Missense_Mutation_p.V670A	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	670	Cytoplasmic.|B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTGGACGAGGTGACTCCATTT	0.647													C	38948774	T	C	38948774	3	2	19	1	0	0	0	0	1	0	0	0	13768	1696	59	3	2079	3	RYR1	19	38948774	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	14355	38948774	20180209	2941	17240											
RYR1	6261	broad.mit.edu	37	chr19	39002913	39002913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagtcaggccctgagatcGtgaaggctggcctccgctcc	13	13	1	3	rs145044872	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:39002913G>A	uc002oit.2	+	63	9392	c.9262G>A	c.(9262-9264)GTG>ATG	p.V3088M	RYR1_uc002oiu.2_Missense_Mutation_p.V3088M|RYR1_uc002oiv.1_Missense_Mutation_p.V8M|RYR1_uc010xuf.1_Missense_Mutation_p.V8M	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3088	Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCTGAGATCGTGAAGGCTGG	0.627													A	39002913	G	A	39002913	3	1	19	1	0	0	0	0	1	0	0	0	13768	1145	40	1	9512	1	RYR1	19	39002913	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	54139	39002913	20126070	2942	17241											
RYR1	6261	broad.mit.edu	37	chr19	39051818	39051818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctttcgtgctccgaagcGgatgagaacgaaatgatcaa	11	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:39051818G>A	uc002oit.2	+	90	12478	c.12348G>A	c.(12346-12348)GCG>GCA	p.A4116A	RYR1_uc002oiu.2_Silent_p.A4111A|RYR1_uc002oiv.1_Silent_p.A1025A	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4116					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTCCGAAGCGGATGAGAACG	0.602													A	39051818	G	A	39051818	2	1	19	1	0	0	0	0	0	0	0	1	13768	1103	39	1		1	RYR1	19	39051818	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	48905	39051818	20077165	2943	17242											
ACTN4	81	broad.mit.edu	37	chr19	39214810	39214810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctagggcctgatctcagCccatgaccagttcaagtcca	8	16	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:39214810C>T	uc002oja.1	+	15	1765	c.1706C>T	c.(1705-1707)GCC>GTC	p.A569V	ACTN4_uc002ojb.1_5'Flank	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	569	Spectrin 3.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGATCTCAGCCCATGACCAG	0.662													T	39214810	C	T	39214810	3	4	19	1	0	0	0	0	1	0	0	0	207	739	26	2	1764	2	ACTN4	19	39214810	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	162992	39214810	19914173	2944	17243											
CAPN12	147968	broad.mit.edu	37	chr19	39232471	39232471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcattccgctgttccgagCgcacgaacatcagcttcccc	7	17	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:39232471C>T	uc002ojd.1	-	4	815	c.506G>A	c.(505-507)CGC>CAC	p.R169H		NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	169	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CTGTTCCGAGCGCACGAACAT	0.627													T	39232471	C	T	39232471	3	4	19	1	0	0	0	0	1	0	0	0	2625	768	27	1	1725	1	CAPN12	19	39232471	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	17661	39232471	19896512	2945	17244											
HNRNPL	3191	broad.mit.edu	37	chr19	39336661	39336661	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggctgcgtagttcactgcGttgcaagcccccaacacatc	9	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:39336661G>A	uc010xul.1	-	3	467	c.456C>T	c.(454-456)AAC>AAT	p.N152N	HNRNPL_uc010xum.1_Silent_p.N19N|HNRNPL_uc010xun.1_5'Flank	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	152	RRM 1.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			AGTTCACTGCGTTGCAAGCCC	0.507													A	39336661	G	A	39336661	2	1	19	1	0	0	0	0	0	0	0	1	7270	1136	40	1		1	HNRNPL	19	39336661	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	104190	39336661	19792322	2946	17245											
PAK4	10298	broad.mit.edu	37	chr19	39669106	39669106	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggaccgcctgctggtgCgagaccctgcccagcgggcc	14	17	0	1	rs56084716	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:39669106C>T	uc002okj.1	+	11	2124	c.1663C>T	c.(1663-1665)CGA>TGA	p.R555*	PAK4_uc002okl.1_Nonsense_Mutation_p.R555*|PAK4_uc002okn.1_Nonsense_Mutation_p.R555*|PAK4_uc002okm.1_Nonsense_Mutation_p.R402*|PAK4_uc002oko.1_Nonsense_Mutation_p.R402*|PAK4_uc002okp.1_Nonsense_Mutation_p.R465*	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	p21-activated kinase 4 isoform 1	555	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CCTGCTGGTGCGAGACCCTGC	0.672													T	39669106	C	T	39669106	4	4	19	1	0	0	0	0	0	1	0	0	11403	760	27	1	1693	1	PAK4	19	39669106	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	332445	39669106	19459877	2947	17246											
PAK4	10298	broad.mit.edu	37	chr19	39669137	39669137	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgggccacggcagccgAgctgctgaagcacccattcc	12	17	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:39669137A>G	uc002okj.1	+	11	2155	c.1694A>G	c.(1693-1695)GAG>GGG	p.E565G	PAK4_uc002okl.1_Missense_Mutation_p.E565G|PAK4_uc002okn.1_Missense_Mutation_p.E565G|PAK4_uc002okm.1_Missense_Mutation_p.E412G|PAK4_uc002oko.1_Missense_Mutation_p.E412G|PAK4_uc002okp.1_Missense_Mutation_p.E475G	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	p21-activated kinase 4 isoform 1	565	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			ACGGCAGCCGAGCTGCTGAAG	0.697													G	39669137	A	G	39669137	3	3	19	1	0	0	0	0	1	0	0	0	11403	304	11	3	1724	3	PAK4	19	39669137	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	31	39669137	19459846	2948	17247											
PAF1	54623	broad.mit.edu	37	chr19	39876979	39876979	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcctcccgttcactctcGctgcccgagtgctcatcttc	6	19	4	0	rs56222321	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:39876979G>A	uc002old.2	-	14	1423	c.1248C>T	c.(1246-1248)AGC>AGT	p.S416S	PAF1_uc002ole.1_Intron	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor,	416	Glu-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			pancreas(1)	1	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GTTCACTCTCGCTGCCCGAGT	0.602													A	39876979	G	A	39876979	2	1	19	1	0	0	0	0	0	0	0	1	11383	1078	38	1		1	PAF1	19	39876979	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	207842	39876979	19252004	2949	17248											
FBL	2091	broad.mit.edu	37	chr19	40328367	40328367	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccgatgagcatgcggtaTttgtgtgggtgtcgagcatc	14	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:40328367T>G	uc002omn.2	-	6	780	c.666A>C	c.(664-666)AAA>AAC	p.K222N	FBL_uc002omm.1_Missense_Mutation_p.K136N|FBL_uc002omo.2_Missense_Mutation_p.K221N	NM_001436	NP_001427	P22087	FBRL_HUMAN	fibrillarin	222					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			ovary(1)	1	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		GCATGCGGTATTTGTGTGGGT	0.582													G	40328367	T	G	40328367	3	3	19	1	0	0	0	0	1	0	0	0	5696	1490	52	5	315	5	FBL	19	40328367	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	451388	40328367	18800616	2950	17249											
ZNF780B	163131	broad.mit.edu	37	chr19	40540940	40540940	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tacattcaaagggcttctcaCcagtatgaaatttctgatgt	7	8	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:40540940C>G	uc002omu.2	-	5	1891	c.1826G>C	c.(1825-1827)GGT>GCT	p.G609A	ZNF780B_uc002omv.2_Missense_Mutation_p.G461A	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GGGCTTCTCACCAGTATGAAA	0.413													G	40540940	C	G	40540940	3	3	19	1	0	0	0	0	1	0	0	0	18150	507	18	5	679	5	ZNF780B	19	40540940	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	212573	40540940	18588043	2951	17250											
MAP3K10	4294	broad.mit.edu	37	chr19	40698374	40698374	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggagcaggtgtgccaggaaGcccggctctttggagccctg	16	12	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:40698374G>T	uc002ona.2	+	1	724	c.436G>T	c.(436-438)GCC>TCC	p.A146S		NM_002446	NP_002437	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase	146	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			ovary(2)|lung(2)|skin(1)|pancreas(1)	6						GTGCCAGGAAGCCCGGCTCTT	0.667													T	40698374	G	T	40698374	3	4	19	1	0	0	0	0	1	0	0	0	9244	971	34	5	438	5	MAP3K10	19	40698374	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	157434	40698374	18430609	2952	17251											
MAP3K10	4294	broad.mit.edu	37	chr19	40712031	40712031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccgcctgctcaagctgCgggaaggcggcagccacatc	14	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:40712031C>T	uc002ona.2	+	5	1690	c.1402C>T	c.(1402-1404)CGG>TGG	p.R468W	MAP3K10_uc002onb.2_Intron	NM_002446	NP_002437	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase	468				LKLREGGSHISLPSGF -> AQAAGRRQPHQPALWL (in Ref. 3).	activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			ovary(2)|lung(2)|skin(1)|pancreas(1)	6						GCTCAAGCTGCGGGAAGGCGG	0.667													T	40712031	C	T	40712031	3	4	19	1	0	0	0	0	1	0	0	0	9244	759	27	1	1420	1	MAP3K10	19	40712031	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	13657	40712031	18416952	2953	17252											
PRX	57716	broad.mit.edu	37	chr19	40899994	40899994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtccccactcccactcCgggccttggggcttagggac	12	17	0	0	rs142436702	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:40899994C>T	uc002onr.2	-	7	4534	c.4265G>A	c.(4264-4266)CGG>CAG	p.R1422Q	PRX_uc002onq.2_Missense_Mutation_p.R1283Q|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1422					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTCCCACTCCGGGCCTTGGG	0.687													T	40899994	C	T	40899994	3	4	19	1	0	0	0	0	1	0	0	0	12642	652	23	1	124	1	PRX	19	40899994	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	187963	40899994	18228989	2954	17253											
SERTAD1	29950	broad.mit.edu	37	chr19	40929341	40929341	+	Frame_Shift_Del	DEL	G	G	-													gggagctagaggccacggccGggggtgcctgtgccaccgct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:40929340_40929340CG>C	uc002ont.4	-	1	273	c.114_114CG>G	c.(112-114)ccgfs	p.P38fs		NM_013376	NP_037508	Q9UHV2	SRTD1_HUMAN	Homo sapiens SERTA domain containing 1 (SERTAD1), mRNA.	38	SERTA.				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGCCACGGCCGGGGGTGCCT	0.642													-	40929341	G	-	40929341	7	5	19	1	0	1	0	1	0	0	0	0	14120	1116	39	0	601	0	SERTAD1	19	40929341	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	29347	40929341	18199642	2955	17254											
SPTBN4	57731	broad.mit.edu	37	chr19	41012169	41012169	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgtcccgggagtgtggGcagcacctggtggaggcaga	18	10	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:41012169G>C	uc002ony.2	+	13	1778	c.1692G>C	c.(1690-1692)GGG>GGC	p.G564G	SPTBN4_uc002onx.2_Silent_p.G564G|SPTBN4_uc002onz.2_Silent_p.G564G	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	564	Spectrin 4.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGAGTGTGGGCAGCACCTGG	0.647													C	41012169	G	C	41012169	2	2	19	1	0	0	0	0	0	0	0	1	15120	1190	42	5		5	SPTBN4	19	41012169	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	82828	41012169	18116814	2956	17255											
SHKBP1	92799	broad.mit.edu	37	chr19	41086783	41086783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaagatggtggcagcagCcaccggcagcgagatcctgc	14	12	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:41086783C>T	uc002oob.2	+	9	834	c.785C>T	c.(784-786)GCC>GTC	p.A262V	SHKBP1_uc002ooc.2_Missense_Mutation_p.A262V|SHKBP1_uc002ood.2_Missense_Mutation_p.A262V|SHKBP1_uc010xvl.1_Missense_Mutation_p.A185V|SHKBP1_uc002ooe.2_Missense_Mutation_p.A99V|SHKBP1_uc002oof.2_Missense_Mutation_p.A99V|SHKBP1_uc010xvm.1_Missense_Mutation_p.A99V|SHKBP1_uc010xvn.1_Missense_Mutation_p.A140V	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	262	WD 1.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|pancreas(1)	2			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGGCAGCAGCCACCGGCAGC	0.607													T	41086783	C	T	41086783	3	4	19	1	0	0	0	0	1	0	0	0	14284	739	26	2	819	2	SHKBP1	19	41086783	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	74614	41086783	18042200	2957	17256											
SHKBP1	92799	broad.mit.edu	37	chr19	41089337	41089337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccatcaccagttatgacGcggcaggctccttcctcctc	8	17	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:41089337G>A	uc002oob.2	+	11	1043	c.994G>A	c.(994-996)GCG>ACG	p.A332T	SHKBP1_uc002ooc.2_Missense_Mutation_p.A307T|SHKBP1_uc002ood.2_Missense_Mutation_p.A332T|SHKBP1_uc010xvl.1_Missense_Mutation_p.A255T|SHKBP1_uc002ooe.2_Missense_Mutation_p.A169T|SHKBP1_uc002oof.2_Missense_Mutation_p.A169T|SHKBP1_uc010xvm.1_Missense_Mutation_p.A169T|SHKBP1_uc010xvn.1_Missense_Mutation_p.A210T	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	332	WD 3.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|pancreas(1)	2			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGTTATGACGCGGCAGGCTC	0.652													A	41089337	G	A	41089337	3	1	19	1	0	0	0	0	1	0	0	0	14284	1087	38	1	1036	1	SHKBP1	19	41089337	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2554	41089337	18039646	2958	17257											
ADCK4	79934	broad.mit.edu	37	chr19	41208524	41208524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaaattctgggcacaagCcgcctcacgacggtagtcac	10	14	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:41208524C>T	uc002oor.2	-	10	1176	c.874G>A	c.(874-876)GCT>ACT	p.A292T	ADCK4_uc002oop.1_5'Flank|ADCK4_uc002ooq.1_Missense_Mutation_p.A251T	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4 isoform a	292	Protein kinase.					integral to membrane	protein serine/threonine kinase activity				0			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			TGGGCACAAGCCGCCTCACGA	0.642													T	41208524	C	T	41208524	3	4	19	1	0	0	0	0	1	0	0	0	290	739	26	2	784	2	ADCK4	19	41208524	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	119187	41208524	17920459	2959	17258											
ITPKC	80271	broad.mit.edu	37	chr19	41243632	41243632	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggcatgcctagaagaactTcgtgaagctctggagatctc	12	9	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:41243632T>C	uc002oot.2	+	6	1839	c.1806T>C	c.(1804-1806)CTT>CTC	p.L602L		NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	inositol 1,4,5-trisphosphate 3-kinase C	602						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity				0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TAGAAGAACTTCGTGAAGCTC	0.572													C	41243632	T	C	41243632	2	2	19	1	0	0	0	0	0	0	0	1	7919	1770	62	3		3	ITPKC	19	41243632	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	35108	41243632	17885351	2960	17259											
SNRPA	6626	broad.mit.edu	37	chr19	41265481	41265481	+	Frame_Shift_Del	DEL	C	C	-													tgtgcaaggcgggggagccaCccccgtggtgggggctgtcc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:41265480_41265480AC>A	uc002ooz.3	+	2	946	c.391_391AC>A	c.(391-393)accfs	p.T131fs		NM_004596	NP_004587	P09012	SNRPA_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide A (SNRPA), mRNA.	131						nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CGGGGGAGCCACCCCCGTGGT	0.672													-	41265481	C	-	41265481	7	5	19	1	0	1	0	1	0	0	0	0	14859	507	18	0	402	0	SNRPA	19	41265481	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	21849	41265481	17863502	2961	17260											
AXL	558	broad.mit.edu	37	chr19	41762394	41762394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgtgtgtggcggacttcGggctctccaagaagatctac	13	11	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:41762394G>A	uc010ehj.2	+	18	2264	c.2074G>A	c.(2074-2076)GGG>AGG	p.G692R	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehk.2_Missense_Mutation_p.G683R	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	692	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						GGCGGACTTCGGGCTCTCCAA	0.552													A	41762394	G	A	41762394	3	1	19	1	0	0	0	0	1	0	0	0	1238	1116	39	1	2144	1	AXL	19	41762394	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	496913	41762394	17366589	2962	17261											
B9D2	80776	broad.mit.edu	37	chr19	41860690	41860690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagcagctgtgtgcaggCgatagcggtcggccccactg	14	14	0	0	rs149500212		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:41860690C>T	uc002oqj.2	-	4	663	c.443G>A	c.(442-444)CGC>CAC	p.R148H	CYP2F1_uc010xvw.1_Intron|TGFB1_uc002oqh.1_5'Flank|TMEM91_uc002oqi.2_Intron	NM_030578	NP_085055	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	148					cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			ovary(1)	1						TGTGTGCAGGCGATAGCGGTC	0.662													T	41860690	C	T	41860690	3	4	19	1	0	0	0	0	1	0	0	0	1278	768	27	1	88	1	B9D2	19	41860690	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	98296	41860690	17268293	2963	17262											
BCKDHA	593	broad.mit.edu	37	chr19	41884359	41884359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtccctgaggggtttgcagTtcctgtcaccgcctcttccc	10	15	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:41884359T>C	uc002oqm.3	+	2	496	c.145T>C	c.(145-147)TTC>CTC	p.F49L	CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Missense_Mutation_p.F49L|TMEM91_uc010ehq.2_Missense_Mutation_p.F49L|TMEM91_uc002oql.2_Missense_Mutation_p.F49L|TMEM91_uc010ehr.2_Missense_Mutation_p.F49L|TMEM91_uc010ehs.2_Missense_Mutation_p.F49L|TMEM91_uc010eht.2_Missense_Mutation_p.F49L|TMEM91_uc002oqk.3_Missense_Mutation_p.F49L|TMEM91_uc002oqn.2_Missense_Mutation_p.F49L	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	Error:Variant_position_missing_in_P12694_after_alignment					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0						GGGTTTGCAGTTCCTGTCACC	0.617													C	41884359	T	C	41884359	3	2	19	1	0	0	0	0	1	0	0	0	1359	1725	60	3		3	BCKDHA	19	41884359	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	23669	41884359	17244624	2964	17263											
ARHGEF1	9138	broad.mit.edu	37	chr19	42406498	42406498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagatcggagacgtgctgCtggcccgggtgagatgccca	17	10	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:42406498C>T	uc002orx.2	+	16	1598	c.1489C>T	c.(1489-1491)CTG>TTG	p.L497L	ARHGEF1_uc002ory.2_Silent_p.L464L|ARHGEF1_uc002orz.2_Silent_p.L335L|ARHGEF1_uc002osa.2_Silent_p.L512L|ARHGEF1_uc002osb.2_Silent_p.L479L|ARHGEF1_uc002osc.2_Silent_p.L251L|ARHGEF1_uc002osd.2_Silent_p.L156L|ARHGEF1_uc002ose.2_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	497	DH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		AGACGTGCTGCTGGCCCGGGT	0.652													T	42406498	C	T	42406498	2	4	19	1	0	0	0	0	0	0	0	1	893	796	28	2		2	ARHGEF1	19	42406498	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	522139	42406498	16722485	2965	17264											
ATP1A3	478	broad.mit.edu	37	chr19	42474440	42474440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgctttcggcagcctcgtaCgccagtgagatggcagggac	14	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:42474440C>T	uc002osg.2	-	18	2593	c.2439G>A	c.(2437-2439)GCG>GCA	p.A813A	ATP1A3_uc010xwf.1_Silent_p.A824A|ATP1A3_uc010xwg.1_Silent_p.A783A|ATP1A3_uc010xwh.1_Silent_p.A826A|ATP1A3_uc002osh.2_Silent_p.A813A	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	813	Helical; (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						CAGCCTCGTACGCCAGTGAGA	0.642													T	42474440	C	T	42474440	2	4	19	1	0	0	0	0	0	0	0	1	1130	523	19	1		1	ATP1A3	19	42474440	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	67942	42474440	16654543	2966	17265											
POU2F2	5452	broad.mit.edu	37	chr19	42599726	42599726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcttctctaaggcgaagcGgacgtttgtctcgatgctgg	12	10	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:42599726G>A	uc002osp.2	-	10	992	c.925C>T	c.(925-927)CGC>TGC	p.R309C	POU2F2_uc002osn.2_Missense_Mutation_p.R293C|POU2F2_uc002oso.2_Missense_Mutation_p.R82C|POU2F2_uc002osq.2_Missense_Mutation_p.R293C|POU2F2_uc002osr.1_Missense_Mutation_p.R309C	NM_002698	NP_002689	P09086	PO2F2_HUMAN	POU domain, class 2, transcription factor 2	309	Homeobox.				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2		Prostate(69;0.059)				AAGGCGAAGCGGACGTTTGTC	0.672													A	42599726	G	A	42599726	3	1	19	1	0	0	0	0	1	0	0	0	12272	1116	39	1	534	1	POU2F2	19	42599726	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	125286	42599726	16529257	2967	17266											
GSK3A	2931	broad.mit.edu	37	chr19	42736740	42736740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcaaagaagctgtgcgcaCaggcctctagtggggagagc	14	10	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:42736740C>T	uc002otb.1	-	9	1312	c.1193G>A	c.(1192-1194)TGT>TAT	p.C398Y	GSK3A_uc002ota.1_Missense_Mutation_p.C316Y|GSK3A_uc002otc.2_RNA	NM_019884	NP_063937	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	398	Protein kinase.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			ovary(2)|lung(2)	4		Prostate(69;0.00682)				GCTGTGCGCACAGGCCTCTAG	0.592													T	42736740	C	T	42736740	3	4	19	1	0	0	0	0	1	0	0	0	6823	478	17	4	270	4	GSK3A	19	42736740	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	137014	42736740	16392243	2968	17267											
MEGF8	1954	broad.mit.edu	37	chr19	42873096	42873096	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgcaacgagacgcagaatTgccacgaccagccccacggc	10	16	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:42873096T>C	uc002otl.3	+	36	7017	c.6382T>C	c.(6382-6384)TGC>CGC	p.C2128R	MEGF8_uc002otm.3_Missense_Mutation_p.C1736R|MEGF8_uc002otn.3_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2195	Extracellular (Potential).|EGF-like 5.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				GACGCAGAATTGCCACGACCA	0.667													C	42873096	T	C	42873096	3	2	19	1	0	0	0	0	1	0	0	0	9463	1812	63	3	6524	3	MEGF8	19	42873096	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	136356	42873096	16255887	2969	17268											
MEGF8	1954	broad.mit.edu	37	chr19	42879938	42879938	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttcgtggtccgtgtggccCctgacactggcgtccatact	11	15	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:42879938C>A	uc002otl.3	+	41	7983	c.7348C>A	c.(7348-7350)CCT>ACT	p.P2450T	MEGF8_uc002otm.3_Missense_Mutation_p.P2058T|MEGF8_uc002otn.3_Missense_Mutation_p.P111T	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2517	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				CCGTGTGGCCCCTGACACTGG	0.652													A	42879938	C	A	42879938	3	1	19	1	0	0	0	0	1	0	0	0	9463	623	22	5	7510	5	MEGF8	19	42879938	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	6842	42879938	16249045	2970	17269											
PSG1	5669	broad.mit.edu	37	chr19	43382329	43382329	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagattctggggcaaattgtGgacaagtagaagaacatcct	11	6	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:43382329G>C	uc002ovb.2	-	2	304	c.166C>G	c.(166-168)CAC>GAC	p.H56D	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.H56D|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.H56D|PSG1_uc010eio.1_Missense_Mutation_p.H56D|PSG1_uc002oux.1_5'UTR|PSG1_uc002ouy.1_Missense_Mutation_p.H56D|PSG1_uc002ouz.1_Missense_Mutation_p.H56D|PSG1_uc002ova.1_Missense_Mutation_p.H56D|PSG1_uc002ovc.2_Missense_Mutation_p.H56D|PSG1_uc002ovd.1_Missense_Mutation_p.H56D	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	56	Ig-like V-type.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				GGCAAATTGTGGACAAGTAGA	0.453													C	43382329	G	C	43382329	3	2	19	1	0	0	0	0	1	0	0	0	12653	1348	47	5	1166	5	PSG1	19	43382329	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	502391	43382329	15746654	2971	17270											
ZNF575	284346	broad.mit.edu	37	chr19	44039617	44039617	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccacacgcaccacgccacCgacgcccgcccctatccttg	7	23	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:44039617C>T	uc002ows.2	+	4	1044	c.516C>T	c.(514-516)ACC>ACT	p.T172T	ZNF575_uc002owq.2_Silent_p.T271T	NM_174945	NP_777605	Q86XF7	ZN575_HUMAN	zinc finger protein 575	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0199)				ACCACGCCACCGACGCCCGCC	0.697													T	44039617	C	T	44039617	2	4	19	1	0	0	0	0	0	0	0	1	18004	639	23	1		1	ZNF575	19	44039617	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	657288	44039617	15089366	2972	17271											
KCNN4	3783	broad.mit.edu	37	chr19	44278355	44278355	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccctcacctctcggccacGgacagcacccaggcggtggt	11	18	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:44278355G>A	uc002oxl.2	-	3	1068	c.672C>T	c.(670-672)TCC>TCT	p.S224S	KCNN4_uc010eiz.2_Silent_p.S137S|KCNN4_uc010eja.1_RNA	NM_002250	NP_002241	O15554	KCNN4_HUMAN	intermediate conductance calcium-activated	224	Helical; Name=Segment S5; (Potential).				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			ovary(2)	2		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	TCTCGGCCACGGACAGCACCC	0.682											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	44278355	G	A	44278355	2	1	19	1	0	0	0	0	0	0	0	1	8081	1103	39	1		1	KCNN4	19	44278355	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	238738	44278355	14850628	2973	17272											
ZNF404	342908	broad.mit.edu	37	chr19	44378091	44378091	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctcccaaattcaattgtgTactgtgggtcagttctgaaa	9	8	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:44378091T>C	uc002oxs.3	-	2	275	c.266A>G	c.(265-267)TAC>TGC	p.Y89C		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	zinc finger protein 404	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TTCAATTGTGTACTGTGGGTC	0.333													C	44378091	T	C	44378091	3	2	19	1	0	0	0	0	1	0	0	0	17883	1638	57	3	1387	3	ZNF404	19	44378091	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	99736	44378091	14750892	2974	17273											
ZNF221	7638	broad.mit.edu	37	chr19	44469186	44469186	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccagaggaagctgtacCgagatgtgatgctagagaac	13	9	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:44469186C>T	uc002oxx.2	+	4	494	c.166C>T	c.(166-168)CGA>TGA	p.R56*	ZNF221_uc010ejb.1_Nonsense_Mutation_p.R56*|ZNF221_uc010xws.1_Nonsense_Mutation_p.R56*	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Prostate(69;0.0352)				GAAGCTGTACCGAGATGTGAT	0.522													T	44469186	C	T	44469186	4	4	19	1	0	0	0	0	0	1	0	0	17772	644	23	1	172	1	ZNF221	19	44469186	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	91095	44469186	14659797	2975	17274											
ZNF234	10780	broad.mit.edu	37	chr19	44661316	44661316	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtggtaagggtttcattTacagttcaagttttcaggcc	11	6	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:44661316T>C	uc002oym.2	+	6	1454	c.1147T>C	c.(1147-1149)TAC>CAC	p.Y383H	ZNF234_uc002oyl.3_Missense_Mutation_p.Y383H	NM_006630	NP_006621	Q14588	ZN234_HUMAN	zinc finger protein 234	383	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				GGGTTTCATTTACAGTTCAAG	0.428													C	44661316	T	C	44661316	3	2	19	1	0	0	0	0	1	0	0	0	17784	1754	61	3	1161	3	ZNF234	19	44661316	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	192130	44661316	14467667	2976	17275											
ZNF226	7769	broad.mit.edu	37	chr19	44681437	44681437	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gataagccatacaaatgtgaTgagtgtgggaagggcttcaa	13	5	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:44681437T>C	uc002oyp.2	+	6	2166	c.2022T>C	c.(2020-2022)GAT>GAC	p.D674D	ZNF226_uc002oyq.2_Silent_p.D557D|ZNF226_uc002oyr.2_Silent_p.D557D|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Silent_p.D674D|ZNF226_uc002oyt.2_Silent_p.D674D	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN	zinc finger protein 226 isoform a	674	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				ACAAATGTGATGAGTGTGGGA	0.453													C	44681437	T	C	44681437	2	2	19	1	0	0	0	0	0	0	0	1	17777	1461	51	3		3	ZNF226	19	44681437	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	20121	44681437	14447546	2977	17276											
ZNF235	9310	broad.mit.edu	37	chr19	44792006	44792006	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgtgcttgaaagtatgAactctgactgaagcctttcc	9	9	1	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:44792006A>G	uc002oza.3	-	5	1685	c.1582T>C	c.(1582-1584)TCA>CCA	p.S528P	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.S524P|ZNF235_uc010xwx.1_Missense_Mutation_p.S442P	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	528	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)				TGAAAGTATGAACTCTGACTG	0.453													G	44792006	A	G	44792006	3	3	19	1	0	0	0	0	1	0	0	0	17785	246	9	3	638	3	ZNF235	19	44792006	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	110569	44792006	14336977	2978	17277											
CBLC	23624	broad.mit.edu	37	chr19	45296787	45296787	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatcaagggctgggaggcCgtgagtatctaccagttcca	14	9	2	2	rs112128460		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:45296787C>T	uc002ozs.2	+	8	1257	c.1194C>T	c.(1192-1194)GCC>GCT	p.A398A	CBLC_uc010ejt.2_Silent_p.A352A	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Cas-Br-M (murine) ecotropic retroviral	398					cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|skin(1)	6	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GCTGGGAGGCCGTGAGTATCT	0.642			M		AML								T	45296787	C	T	45296787	2	4	19	1	0	0	0	0	0	0	0	1	2702	639	23	1		1	CBLC	19	45296787	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	504781	45296787	13832196	2979	17278											
NKPD1	284353	broad.mit.edu	37	chr19	45655873	45655873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactcgtagaggcagtcgcGctcgtcgtgaaggcagaaga	15	9	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:45655873G>A	uc010xxi.1	-	4	1822	c.1822C>T	c.(1822-1824)CGC>TGC	p.R608C		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		AGGCAGTCGCGCTCGTCGTGA	0.701													A	45655873	G	A	45655873	3	1	19	1	0	0	0	0	1	0	0	0	10446	1087	38	1	680	1	NKPD1	19	45655873	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	359086	45655873	13473110	2980	17279											
FOSB	2354	broad.mit.edu	37	chr19	45975912	45975912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctggtggcccacaaacCgggctgcaagatcccctacg	12	14	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:45975912C>T	uc002pbx.3	+	4	1251	c.659C>T	c.(658-660)CCG>CTG	p.P220L	ERCC1_uc002pbu.1_Intron|FOSB_uc010eke.2_Missense_Mutation_p.P145L|FOSB_uc002pby.3_Missense_Mutation_p.P184L|FOSB_uc010eka.1_Missense_Mutation_p.P181L|FOSB_uc010ekb.1_Missense_Mutation_p.P220L|FOSB_uc010ekc.1_Missense_Mutation_p.P77L|FOSB_uc010ekf.2_Missense_Mutation_p.P181L|FOSB_uc010ekd.1_Missense_Mutation_p.P184L|FOSB_uc010ekg.2_Missense_Mutation_p.P77L|FOSB_uc002pca.3_Missense_Mutation_p.P171L	NM_006732	NP_006723	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	220					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|lung(1)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		GCCCACAAACCGGGCTGCAAG	0.607													T	45975912	C	T	45975912	3	4	19	1	0	0	0	0	1	0	0	0	5986	652	23	1	673	1	FOSB	19	45975912	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	320039	45975912	13153071	2981	17280											
FOSB	2354	broad.mit.edu	37	chr19	45976210	45976210	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgttcgccggcgcccaacgCaccagcggcagtgaccagcc	13	18	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:45976210C>T	uc002pbx.3	+	4	1549	c.957C>T	c.(955-957)CGC>CGT	p.R319R	ERCC1_uc002pbu.1_Intron|FOSB_uc010eke.2_Silent_p.R244R|FOSB_uc002pby.3_Silent_p.R283R|FOSB_uc010eka.1_3'UTR|FOSB_uc010ekb.1_3'UTR|FOSB_uc010ekc.1_3'UTR|FOSB_uc010ekf.2_Silent_p.R280R|FOSB_uc010ekd.1_3'UTR|FOSB_uc010ekg.2_Silent_p.R176R|FOSB_uc002pca.3_Silent_p.R270R	NM_006732	NP_006723	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	319					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|lung(1)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		GCGCCCAACGCACCAGCGGCA	0.587													T	45976210	C	T	45976210	2	4	19	1	0	0	0	0	0	0	0	1	5986	697	25	2		2	FOSB	19	45976210	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	298	45976210	13152773	2982	17281											
RTN2	6253	broad.mit.edu	37	chr19	45996513	45996513	+	Frame_Shift_Del	DEL	G	G	-													gaacccggaggacaggagtaGggggggtggggcccctttgg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:45996512_45996512AG>A	uc002pcb.3	-	4	1169	c.939_939CT>T	c.(937-939)cctfs	p.P313fs	RTN2_uc002pcc.3_Intron|RTN2_uc002pcd.3_Intron	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	313						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGACAGGAGTAGGGGGGGTGG	0.572													-	45996513	G	-	45996513	7	5	19	1	0	1	0	1	0	0	0	0	13726	1000	35	0	727	0	RTN2	19	45996513	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	20303	45996513	13132470	2983	17282											
GPR4	2828	broad.mit.edu	37	chr19	46094726	46094726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggagctcacggccacggcGgtcttgacgcggcgcaggcg	17	14	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:46094726G>A	uc002pcm.2	-	2	1344	c.399C>T	c.(397-399)ACC>ACT	p.T133T	OPA3_uc010xxk.1_Intron	NM_005282	NP_005273	P46093	GPR4_HUMAN	G protein-coupled receptor 4	133	Helical; Name=4; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGGCCACGGCGGTCTTGACGC	0.662													A	46094726	G	A	46094726	2	1	19	1	0	0	0	0	0	0	0	1	6694	1103	39	1		1	GPR4	19	46094726	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	98213	46094726	13034257	2984	17283											
SIX5	147912	broad.mit.edu	37	chr19	46269107	46269107	+	Frame_Shift_Del	DEL	G	G	-													ctggaggtggtggcagcggcGgggggtggctgctgtgcaga							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:46269107delG	uc002pdb.2	-	3	2267	c.1872delC	c.(1870-1872)CCCfs	p.P624fs	SIX5_uc002pdc.2_3'UTR	NM_175875	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	624						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		TGGCAGCGGCGGGGGGTGGCT	0.711													-	46269107	G	-	46269107	7	5	19	1	0	1	0	1	0	0	0	0	14350	1103	39	0	351	0	SIX5	19	46269107	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	174381	46269107	12859876	2985	17284											
CCDC8	83987	broad.mit.edu	37	chr19	46915764	46915764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaactcgctgtcgctggCgttgctgctgtcgtacgtgc	14	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:46915764C>T	uc002pep.2	-	1	1156	c.304G>A	c.(304-306)GCC>ACC	p.A102T		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	102						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTGTCGCTGGCGTTGCTGCTG	0.657													T	46915764	C	T	46915764	3	4	19	1	0	0	0	0	1	0	0	0	2853	768	27	1	1316	1	CCDC8	19	46915764	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	646657	46915764	12213219	2986	17285											
ZC3H4	23211	broad.mit.edu	37	chr19	47570574	47570574	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggatgggtagggggatcAggtcctcgggattccagagc	19	7	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:47570574A>G	uc002pga.3	-	15	2989	c.2951T>C	c.(2950-2952)CTG>CCG	p.L984P	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	984							nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TAGGGGGATCAGGTCCTCGGG	0.682													G	47570574	A	G	47570574	3	3	19	1	0	0	0	0	1	0	0	0	17567	188	7	3	964	3	ZC3H4	19	47570574	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	654810	47570574	11558409	2987	17286											
CCDC9	26093	broad.mit.edu	37	chr19	47773861	47773861	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctacttttggggagttccTgtcccagcacaaagctgagg	11	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:47773861T>C	uc010xym.1	+	10	1208	c.1001T>C	c.(1000-1002)CTG>CCG	p.L334P		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	334											0		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GGGGAGTTCCTGTCCCAGCAC	0.647													C	47773861	T	C	47773861	3	2	19	1	0	0	0	0	1	0	0	0	2867	1580	55	3	1035	3	CCDC9	19	47773861	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	203287	47773861	11355122	2988	17287											
MEIS3	56917	broad.mit.edu	37	chr19	47918126	47918126	+	Splice_Site	DEL	G	G	-													gtcgcacaggtcgtggacctGggggggcaccggggtactgg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:47918125_47918125TG>T	uc002pgq.3	-	6	757	c.691_splice	c.e6-1	p.V231_splice	MEIS3_uc002pgo.3_5'Flank|MEIS3_uc002pgp.3_5'UTR|MEIS3_uc002pgr.3_Splice_Site_p.V18_splice|MEIS3_uc002pgs.3_Splice_Site_p.V150_splice|MEIS3_uc002pgt.3_Intron|MEIS3_uc010eld.3_Splice_Site_p.V150_splice	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Homo sapiens Meis homeobox 3 (MEIS3), transcript variant 2, mRNA.	150	Ser/Thr-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GTCGTGGACCTGGGGGGGCAC	0.682													-	47918126	G	-	47918126	8	5	19	1	0	1	0	1	0	0	1	0	9469	1363	47	0		0	MEIS3	19	47918126	Splice_Site	DEL	G	TCGA-BR-4361-01A-01D-1158-08	144265	47918126	11210857	2989	17288											
SLC8A2	6543	broad.mit.edu	37	chr19	47969099	47969099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcttgatcttgcggctctCgccggctgggatgacgtaga	15	10	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:47969099C>T	uc002pgx.2	-	2	840	c.562G>A	c.(562-564)GAG>AAG	p.E188K	SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.E188K	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	188	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TTGCGGCTCTCGCCGGCTGGG	0.567													T	47969099	C	T	47969099	3	4	19	1	0	0	0	0	1	0	0	0	14707	893	31	1	2239	1	SLC8A2	19	47969099	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	50973	47969099	11159884	2990	17289											
GLTSCR1	29998	broad.mit.edu	37	chr19	48183494	48183495	+	Frame_Shift_Ins	INS	-	-	G													cccatccagcccaagcccgcINSgggggtgctgccgcccaagc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:48183494_48183495insG	uc002phh.3	+	6	1261_1262	c.1067_1068insG	c.(1066-1068)GCGfs	p.A356fs	GLTSCR1_uc002phi.3_Frame_Shift_Ins_p.A114fs	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	356							protein binding			pancreas(3)	3		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCCAAGCCCGCGGGGGTGCTGC	0.752													G	48183495	-	G	48183494	7	5	19	1	0	1	1	0	0	0	0	0	6474	768	27	0	1081	0	GLTSCR1	19	48183494	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	214395	48183494	10945489	2991	17290											
TMEM143	55260	broad.mit.edu	37	chr19	48863431	48863431	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgccggactcgagtggaaTtcctgttacctcaggaagca	11	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:48863431T>C	uc002pix.1	-	3	276	c.267A>G	c.(265-267)GAA>GAG	p.E89E	TMEM143_uc002piw.1_RNA|TMEM143_uc002piy.1_Intron|TMEM143_uc010xzn.1_Silent_p.E89E|TMEM143_uc010elw.1_Intron|TMEM143_uc010xzo.1_Intron|TMEM143_uc010xzp.1_Silent_p.E89E|TMEM143_uc010xzq.1_Intron	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	transmembrane protein 143	89						integral to membrane|mitochondrion					0		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TCGAGTGGAATTCCTGTTACC	0.557													C	48863431	T	C	48863431	2	2	19	1	0	0	0	0	0	0	0	1	16054	1490	52	3		3	TMEM143	19	48863431	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	679937	48863431	10265552	2992	17291											
KCNJ14	3770	broad.mit.edu	37	chr19	48965192	48965192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaacctgggtggccagggcGcgcgctacctgagcgacctg	15	13	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:48965192G>A	uc002pje.1	+	2	616	c.211G>A	c.(211-213)GCG>ACG	p.A71T	KCNJ14_uc002pjf.1_Missense_Mutation_p.A71T	NM_013348	NP_037480	Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel J14	71	Cytoplasmic (By similarity).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			skin(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		TGGCCAGGGCGCGCGCTACCT	0.667													A	48965192	G	A	48965192	3	1	19	1	0	0	0	0	1	0	0	0	8048	1087	38	1	213	1	KCNJ14	19	48965192	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	101761	48965192	10163791	2993	17292											
KCNJ14	3770	broad.mit.edu	37	chr19	48968005	48968005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagcccccgagttctcacaCcaaccctggcgctgaccctg	8	19	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:48968005C>T	uc002pje.1	+	3	1687	c.1282C>T	c.(1282-1284)CCA>TCA	p.P428S	KCNJ14_uc002pjf.1_Missense_Mutation_p.P428S	NM_013348	NP_037480	Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel J14	428	Cytoplasmic (By similarity).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			skin(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		AGTTCTCACACCAACCCTGGC	0.592													T	48968005	C	T	48968005	3	4	19	1	0	0	0	0	1	0	0	0	8048	507	18	4	1288	4	KCNJ14	19	48968005	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2813	48968005	10160978	2994	17293											
TULP2	7288	broad.mit.edu	37	chr19	49400605	49400605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcctgggcacaatacctgCtgttccagcttctgcagcct	8	14	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:49400605C>T	uc002pkz.2	-	3	232	c.81G>A	c.(79-81)CAG>CAA	p.Q27Q	NUCB1_uc002pla.2_5'Flank|NUCB1_uc002plb.3_5'Flank	NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	27					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		ACAATACCTGCTGTTCCAGCT	0.607													T	49400605	C	T	49400605	2	4	19	1	0	0	0	0	0	0	0	1	16771	796	28	2		2	TULP2	19	49400605	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	432600	49400605	9728378	2995	17294											
CGB8	94115	broad.mit.edu	37	chr19	49551986	49551986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccctgcagtcttacctggAacatctccatccttggtgtg	10	13	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:49551986A>G	uc002pmb.3	-	1	383	c.11T>C	c.(10-12)TTC>TCC	p.F4S	CGB_uc010yad.1_Intron|CGB8_uc002pma.2_5'Flank|CGB8_uc002pmc.2_Intron	NM_033183	NP_149439	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 8	4					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity				0		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	TCTTACCTGGAACATCTCCAT	0.607													G	49551986	A	G	49551986	3	3	19	1	0	0	0	0	1	0	0	0	3301	246	9	3	498	3	CGB8	19	49551986	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	151381	49551986	9576997	2996	17295											
CD37	951	broad.mit.edu	37	chr19	49842653	49842653	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatagtgggcatttgcctgGgcgtcggcctactcgaggtg	15	11	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:49842653G>T	uc002pnd.2	+	7	872	c.751G>T	c.(751-753)GGC>TGC	p.G251C	uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Missense_Mutation_p.G251C|CD37_uc010yan.1_Missense_Mutation_p.G183C|CD37_uc002pnf.3_Missense_Mutation_p.G223C|CD37_uc002pne.2_Missense_Mutation_p.G183C	NM_001774	NP_001765	P11049	CD37_HUMAN	CD37 antigen isoform A	251	Helical; (Potential).					integral to membrane					0		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		CATTTGCCTGGGCGTCGGCCT	0.602													T	49842653	G	T	49842653	3	4	19	1	0	0	0	0	1	0	0	0	3008	1232	43	5	777	5	CD37	19	49842653	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	290667	49842653	9286330	2997	17296											
SLC17A7	57030	broad.mit.edu	37	chr19	49934663	49934663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggccacgcccttggagtgcGagtagccgaccaccaacagc	12	15	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:49934663G>A	uc002pnp.2	-	10	1365	c.1193C>T	c.(1192-1194)TCG>TTG	p.S398L	SLC17A7_uc002pno.2_Intron	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	398	Helical; (Potential).				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			ovary(1)|pancreas(1)|skin(1)	3		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CTTGGAGTGCGAGTAGCCGAC	0.577													A	49934663	G	A	49934663	3	1	19	1	0	0	0	0	1	0	0	0	14422	1059	37	1	501	1	SLC17A7	19	49934663	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	92010	49934663	9194320	2998	17297											
SCAF1	58506	broad.mit.edu	37	chr19	50155693	50155694	+	Frame_Shift_Ins	INS	-	-	G													tgaccgcgacagccgccgccINSggggggccgtgccaccctcc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:50155693_50155694insG	uc002poq.2	+	7	2171_2172	c.2047_2048insG	c.(2047-2049)CGGfs	p.R683fs		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	683	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CAGCCGCCGCCGGGGGGCCGTG	0.604													G	50155694	-	G	50155693	7	5	19	1	0	1	1	0	0	0	0	0	13868	643	23	0	2069	0	SCAF1	19	50155693	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	221030	50155693	8973290	2999	17298											
TBC1D17	79735	broad.mit.edu	37	chr19	50386247	50386247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtctgagccccagcctGcggcgcgaggcctggaagtt	16	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:50386247G>A	uc002pqo.2	+	9	1097	c.945G>A	c.(943-945)CTG>CTA	p.L315L	TBC1D17_uc010enn.1_RNA|TBC1D17_uc010ybg.1_Silent_p.L282L|TBC1D17_uc002pqp.2_5'UTR|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_5'UTR|TBC1D17_uc002pqs.2_RNA	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	315	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GCCCCAGCCTGCGGCGCGAGG	0.637													A	50386247	G	A	50386247	2	1	19	1	0	0	0	0	0	0	0	1	15603	1306	46	2		2	TBC1D17	19	50386247	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	230554	50386247	8742736	3000	17299											
ATF5	22809	broad.mit.edu	37	chr19	50436306	50436306	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacgtcaaggacctgctcaTcgaggtttacaaggcccgga	12	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:50436306T>C	uc010enq.1	+	4	1373	c.806T>C	c.(805-807)ATC>ACC	p.I269T	ATF5_uc002prd.2_Missense_Mutation_p.I269T	NM_012068	NP_036200	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	269					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.I269I(1)		skin(2)	2		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GACCTGCTCATCGAGGTTTAC	0.647													C	50436306	T	C	50436306	3	2	19	1	0	0	0	0	1	0	0	0	1083	1435	50	3	812	3	ATF5	19	50436306	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	50059	50436306	8692677	3001	17300											
C19orf41	126123	broad.mit.edu	37	chr19	50661547	50661547	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcagtactttttgtggatAcacttgggagtgatcctctg	11	7	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:50661547A>G	uc002prp.1	-	5	561	c.474T>C	c.(472-474)TGT>TGC	p.C158C		NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN	hypothetical protein LOC126123 precursor	158	Extracellular (Potential).					integral to membrane					0		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)		TTTTGTGGATACACTTGGGAG	0.493													G	50661547	A	G	50661547	2	3	19	1	0	0	0	0	0	0	0	1	1924	389	14	3		3	C19orf41	19	50661547	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	225241	50661547	8467436	3002	17301											
MYH14	79784	broad.mit.edu	37	chr19	50784930	50784930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacggcgccgggcagcccGggaggccgaggccctgaccc	18	17	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:50784930G>A	uc002prr.1	+	31	4294	c.4247G>A	c.(4246-4248)CGG>CAG	p.R1416Q	MYH14_uc010enu.1_Missense_Mutation_p.R1457Q|MYH14_uc002prq.1_Missense_Mutation_p.R1424Q|MYH14_uc010ycb.1_Intron	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	1416	Potential.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CGGGCAGCCCGGGAGGCCGAG	0.741													A	50784930	G	A	50784930	3	1	19	1	0	0	0	0	1	0	0	0	10033	1116	39	1	4496	1	MYH14	19	50784930	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	123383	50784930	8344053	3003	17302											
POLD1	5424	broad.mit.edu	37	chr19	50917010	50917010	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgcaggtggtgtatggTgacactgactccgtcatgtg	14	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:50917010T>C	uc002psb.3	+	19	2318	c.2262T>C	c.(2260-2262)GGT>GGC	p.G754G	POLD1_uc002psc.3_Silent_p.G754G|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Silent_p.G780G	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	754					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TGGTGTATGGTGACACTGACT	0.637								DNA_polymerases_(catalytic_subunits)					C	50917010	T	C	50917010	2	2	19	1	0	0	0	0	0	0	0	1	12190	1683	59	3		3	POLD1	19	50917010	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	132080	50917010	8211973	3004	17303											
SHANK1	50944	broad.mit.edu	37	chr19	51169816	51169816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggggtcctgaacaagcacGcagggccagcagcccatcgg	16	13	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:51169816G>A	uc002psx.1	-	22	5420	c.5401C>T	c.(5401-5403)CGT>TGT	p.R1801C	SHANK1_uc002psw.1_Missense_Mutation_p.R1185C	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1801					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAACAAGCACGCAGGGCCAGC	0.721													A	51169816	G	A	51169816	3	1	19	1	0	0	0	0	1	0	0	0	14264	1087	38	1	1092	1	SHANK1	19	51169816	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	252806	51169816	7959167	3005	17304											
SHANK1	50944	broad.mit.edu	37	chr19	51171765	51171765	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtggggatggggatggagTtcttctccgagggcgcggcc	20	8	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:51171765T>C	uc002psx.1	-	22	3471	c.3452A>G	c.(3451-3453)AAC>AGC	p.N1151S	SHANK1_uc002psw.1_Missense_Mutation_p.N535S	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1151					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGGGATGGAGTTCTTCTCCGA	0.473													C	51171765	T	C	51171765	3	2	19	1	0	0	0	0	1	0	0	0	14264	1725	60	3	3041	3	SHANK1	19	51171765	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1949	51171765	7957218	3006	17305											
SHANK1	50944	broad.mit.edu	37	chr19	51201124	51201124	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgctctcctgagagcgatTcgccacttcttccaggcagt	9	14	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:51201124T>C	uc002psx.1	-	12	1856	c.1837A>G	c.(1837-1839)AAT>GAT	p.N613D		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	613	SH3.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TGAGAGCGATTCGCCACTTCT	0.567													C	51201124	T	C	51201124	3	2	19	1	0	0	0	0	1	0	0	0	14264	1783	62	3	4696	3	SHANK1	19	51201124	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	29359	51201124	7927859	3007	17306											
HAS1	3036	broad.mit.edu	37	chr19	52216817	52216817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtaggcctcggctgcgcGggaagggccgctccagtcgg	19	12	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:52216817G>A	uc002pxo.1	-	5	1635	c.1600C>T	c.(1600-1602)CGC>TGC	p.R534C	HAS1_uc010epc.1_Missense_Mutation_p.R134C|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxn.1_Missense_Mutation_p.R541C|HAS1_uc002pxp.1_Missense_Mutation_p.R533C	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	534	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCGGCTGCGCGGGAAGGGCCG	0.726													A	52216817	G	A	52216817	3	1	19	1	0	0	0	0	1	0	0	0	6961	1116	39	1	140	1	HAS1	19	52216817	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1015693	52216817	6912166	3008	17307											
ZNF577	84765	broad.mit.edu	37	chr19	52381737	52381737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccactcctccctggtgaagCccacagccacatcttcgaat	7	17	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:52381737C>T	uc010yde.1	-	5	483	c.92G>A	c.(91-93)GGC>GAC	p.G31D	ZNF577_uc010ydd.1_RNA|ZNF577_uc002pxx.3_Missense_Mutation_p.G31D|ZNF577_uc002pxv.2_Missense_Mutation_p.G24D|ZNF577_uc002pxw.2_Missense_Mutation_p.G24D	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	zinc finger protein 577 isoform a	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CCTGGTGAAGCCCACAGCCAC	0.453													T	52381737	C	T	52381737	3	4	19	1	0	0	0	0	1	0	0	0	18006	739	26	2	1377	2	ZNF577	19	52381737	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	164920	52381737	6747246	3009	17308											
ZNF616	90317	broad.mit.edu	37	chr19	52619010	52619010	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgctgaaaactttgccacaTtcattgcatttataagcttt	5	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:52619010T>C	uc002pym.2	-	4	1690	c.1407A>G	c.(1405-1407)GAA>GAG	p.E469E	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	469	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CTTTGCCACATTCATTGCATT	0.398													C	52619010	T	C	52619010	2	2	19	1	0	0	0	0	0	0	0	1	18038	1490	52	3		3	ZNF616	19	52619010	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	237273	52619010	6509973	3010	17309											
ZNF480	147657	broad.mit.edu	37	chr19	52826015	52826015	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgcacgacatcggaaaatTcatactggagagaaacctta	8	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:52826015T>C	uc010ydl.1	+	5	1582	c.1512T>C	c.(1510-1512)ATT>ATC	p.I504I	ZNF480_uc002pyv.2_Silent_p.I427I|ZNF480_uc010ydm.1_Silent_p.I461I|ZNF480_uc010epn.2_Silent_p.I335I|uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	504	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		ATCGGAAAATTCATACTGGAG	0.403													C	52826015	T	C	52826015	2	2	19	1	0	0	0	0	0	0	0	1	17932	1771	62	3		3	ZNF480	19	52826015	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	207005	52826015	6302968	3011	17310											
ZNF808	388558	broad.mit.edu	37	chr19	53057276	53057276	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacttcatactggagtgaaAccttacaaatgtaagatttg	8	6	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:53057276A>G	uc010epq.1	+	5	1284	c.1107A>G	c.(1105-1107)AAA>AAG	p.K369K	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CTGGAGTGAAACCTTACAAAT	0.378													G	53057276	A	G	53057276	2	3	19	1	0	0	0	0	0	0	0	1	18170	40	2	3		3	ZNF808	19	53057276	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	231261	53057276	6071707	3012	17311											
ZNF600	162966	broad.mit.edu	37	chr19	53270656	53270656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatgttgaaaccgagggaGcatcactggtagacttctca	13	8	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:53270656G>A	uc002qab.3	-	3	639	c.353C>T	c.(352-354)GCT>GTT	p.A118V		NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AACCGAGGGAGCATCACTGGT	0.393													A	53270656	G	A	53270656	3	1	19	1	0	0	0	0	1	0	0	0	18027	971	34	2	1819	2	ZNF600	19	53270656	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	213380	53270656	5858327	3013	17312											
ZNF320	162967	broad.mit.edu	37	chr19	53384245	53384245	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaggtctctctccagtatgAactctctgatgttctgcaag	8	10	4	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:53384245A>G	uc002qag.2	-	4	1325	c.1134T>C	c.(1132-1134)GTT>GTC	p.V378V	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Silent_p.V324V|ZNF320_uc002qai.2_Silent_p.V378V	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	378	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		CTCCAGTATGAACTCTCTGAT	0.408													G	53384245	A	G	53384245	2	3	19	1	0	0	0	0	0	0	0	1	17836	233	9	3		3	ZNF320	19	53384245	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	113589	53384245	5744738	3014	17313											
ZNF761	388561	broad.mit.edu	37	chr19	53957988	53957988	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcagggacattgcaaaTacatgaaagtcatcacaatg	8	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:53957988T>A	uc010eqp.2	+	7	685	c.227T>A	c.(226-228)ATA>AAA	p.I76K	ZNF761_uc010ydy.1_Missense_Mutation_p.I22K|ZNF761_uc002qbt.1_Missense_Mutation_p.I22K	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		ACATTGCAAATACATGAAAGT	0.378													A	53957988	T	A	53957988	3	1	19	1	0	0	0	0	1	0	0	0	18133	1406	49	5	238	5	ZNF761	19	53957988	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	573743	53957988	5170995	3015	17314											
ZNF761	388561	broad.mit.edu	37	chr19	53959361	53959361	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcaagacctttagttggAagtcatcccttacctgccat	9	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:53959361A>G	uc010eqp.2	+	7	2058	c.1600A>G	c.(1600-1602)AAG>GAG	p.K534E	ZNF761_uc010ydy.1_Missense_Mutation_p.K480E|ZNF761_uc002qbt.1_Missense_Mutation_p.K480E	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	534	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		CTTTAGTTGGAAGTCATCCCT	0.443													G	53959361	A	G	53959361	3	3	19	1	0	0	0	0	1	0	0	0	18133	247	9	3	1611	3	ZNF761	19	53959361	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1373	53959361	5169622	3016	17315											
NLRP12	91662	broad.mit.edu	37	chr19	54310804	54310804	+	Frame_Shift_Del	DEL	C	C	-													tccttgacagagcagcttcaCcccccggctgcccagggcat							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:54310804delC	uc002qch.3	-	4	2408	c.2188delG	c.(2188-2190)GTGfs	p.V730fs	NLRP12_uc010eqw.2_5'UTR|NLRP12_uc002qci.3_Frame_Shift_Del_p.V730fs|NLRP12_uc002qcj.3_Frame_Shift_Del_p.V731fs|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Frame_Shift_Del_p.V731fs	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	730					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGCAGCTTCACCCCCCGGCTG	0.592													-	54310804	C	-	54310804	7	5	19	1	0	1	0	1	0	0	0	0	10474	507	18	0	1121	0	NLRP12	19	54310804	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	351443	54310804	4818179	3017	17316											
PRKCG	5582	broad.mit.edu	37	chr19	54401306	54401306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcggggcgagtccaggaCgcctgcacatctccgacttc	11	15	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:54401306C>T	uc002qcq.1	+	10	1315	c.1033C>T	c.(1033-1035)CGC>TGC	p.R345C	PRKCG_uc010yef.1_Silent_p.D315D|PRKCG_uc010yeg.1_Missense_Mutation_p.R345C|PRKCG_uc010yeh.1_Missense_Mutation_p.R232C	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	345					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GAGTCCAGGACGCCTGCACAT	0.493													T	54401306	C	T	54401306	3	4	19	1	0	0	0	0	1	0	0	0	12512	536	19	1	1071	1	PRKCG	19	54401306	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	90502	54401306	4727677	3018	17317											
LILRB2	10288	broad.mit.edu	37	chr19	54783435	54783435	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgtgactcacactggagGgtcacccttcctcctgaggt	10	14	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:54783435G>T	uc002qfb.2	-	5	689	c.423C>A	c.(421-423)ACC>ACA	p.T141T	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.T141T|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.T141T|LILRB2_uc010yet.1_Silent_p.T25T|LILRB2_uc010yeu.1_RNA	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	141	Extracellular (Potential).|Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			skin(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACACTGGAGGGTCACCCTTC	0.582													T	54783435	G	T	54783435	2	4	19	1	0	0	0	0	0	0	0	1	8791	1219	43	5		5	LILRB2	19	54783435	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	382129	54783435	4345548	3019	17318											
LENG8	114823	broad.mit.edu	37	chr19	54966602	54966602	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactggccccaggacatgaAagagtatgtggagcgctgct	14	9	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:54966602A>G	uc002qfv.1	+	7	914	c.770A>G	c.(769-771)AAA>AGA	p.K257R	LENG8_uc002qfw.2_Missense_Mutation_p.K294R			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	257							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CAGGACATGAAAGAGTATGTG	0.647													G	54966602	A	G	54966602	3	3	19	1	0	0	0	0	1	0	0	0	8724	14	1	3	907	3	LENG8	19	54966602	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	183167	54966602	4162381	3020	17319											
LILRA2	11027	broad.mit.edu	37	chr19	55085865	55085865	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggggagccttcaggctgaGgagtaccatctatataggga	14	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:55085865G>T	uc002qgg.3	+	3	257	c.168G>T	c.(166-168)GAG>GAT	p.E56D	LILRA2_uc010ern.2_Missense_Mutation_p.E56D|LILRA2_uc002qgf.2_Missense_Mutation_p.E56D|LILRA2_uc010yfe.1_Missense_Mutation_p.E56D|LILRA2_uc010yff.1_Missense_Mutation_p.E44D|LILRA2_uc010ero.2_Missense_Mutation_p.E44D|LILRA2_uc010yfg.1_Missense_Mutation_p.E56D	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	56	Extracellular (Potential).|Ig-like C2-type 1.				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		TTCAGGCTGAGGAGTACCATC	0.572													T	55085865	G	T	55085865	3	4	19	1	0	0	0	0	1	0	0	0	8785	991	35	5	178	5	LILRA2	19	55085865	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	119263	55085865	4043118	3021	17320											
HSPBP1	23640	broad.mit.edu	37	chr19	55773978	55773978	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaagccacctggtttcAccgatccatgctgtcgtccg	10	14	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:55773978A>G	uc002qjx.2	-	7	1326	c.1216T>C	c.(1216-1218)TGA>CGA	p.*406R	HSPBP1_uc002qjy.2_Nonstop_Mutation_p.*360R|HSPBP1_uc002qkb.2_3'UTR|HSPBP1_uc002qka.2_Nonstop_Mutation_p.*360R|HSPBP1_uc002qkd.2_Nonstop_Mutation_p.*360R|HSPBP1_uc002qkc.2_Nonstop_Mutation_p.*360R	NM_012267	NP_036399	Q9NZL4	HPBP1_HUMAN	hsp70-interacting protein	406					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ACCTGGTTTCACCGATCCATG	0.622													G	55773978	A	G	55773978	4	3	19	1	0	0	0	0	0	0	0	0	7426	172	6	3	5	3	HSPBP1	19	55773978	Nonstop_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	688113	55773978	3355005	3022	17321											
TMEM150B	284417	broad.mit.edu	37	chr19	55832401	55832401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcagcgacaggtagccccAcatgccgggctctgcaggtg	13	14	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:55832401A>G	uc010esw.1	-	3	177	c.4T>C	c.(4-6)TGG>CGG	p.W2R	TMEM150B_uc010yfu.1_Missense_Mutation_p.W2R|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA|TMEM150B_uc002qki.2_Missense_Mutation_p.W2R	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	transmembrane protein 150B precursor	2						integral to membrane					0						AGGTAGCCCCACATGCCGGGC	0.562													G	55832401	A	G	55832401	3	3	19	1	0	0	0	0	1	0	0	0	16065	159	6	3	721	3	TMEM150B	19	55832401	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	58423	55832401	3296582	3023	17322											
ZNF579	163033	broad.mit.edu	37	chr19	56089484	56089484	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggagagggcggctcttcctTaatgtttgcgaggggcagcg	17	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:56089484T>C	uc002qlh.2	-	2	1575	c.1522A>G	c.(1522-1524)AAG>GAG	p.K508E		NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	508	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		GGCTCTTCCTTAATGTTTGCG	0.502													C	56089484	T	C	56089484	3	2	19	1	0	0	0	0	1	0	0	0	18008	1763	61	3	170	3	ZNF579	19	56089484	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	257083	56089484	3039499	3024	17323											
NLRP9	338321	broad.mit.edu	37	chr19	56223792	56223792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtagatactcacccgagaCactctaatttacagtgagga	8	10	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:56223792C>T	uc002qly.2	-	7	2694	c.2666G>A	c.(2665-2667)TGT>TAT	p.C889Y		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	889	LRR 6.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCACCCGAGACACTCTAATTT	0.428													T	56223792	C	T	56223792	3	4	19	1	0	0	0	0	1	0	0	0	10484	478	17	4	321	4	NLRP9	19	56223792	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	134308	56223792	2905191	3025	17324											
ZNF835	90485	broad.mit.edu	37	chr19	57175421	57175421	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccgctcaccggtgtgcacGaggcggtgctggaggaggtg	20	10	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:57175421G>A	uc010ygo.1	-	2	1212	c.1212C>T	c.(1210-1212)CTC>CTT	p.L404L	ZNF835_uc010ygn.1_Silent_p.L382L	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						CGGTGTGCACGAGGCGGTGCT	0.667													A	57175421	G	A	57175421	2	1	19	1	0	0	0	0	0	0	0	1	18183	1045	37	1		1	ZNF835	19	57175421	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	951629	57175421	1953562	3026	17325											
ZNF460	10794	broad.mit.edu	37	chr19	57802980	57802980	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagcagcatgagcggatTcacactggtgagaagccctt	11	11	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:57802980T>C	uc002qog.2	+	3	1393	c.1071T>C	c.(1069-1071)ATT>ATC	p.I357I	ZNF460_uc010ygv.1_Silent_p.I316I	NM_006635	NP_006626	Q14592	ZN460_HUMAN	zinc finger protein 460	357	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGAGCGGATTCACACTGGTG	0.502													C	57802980	T	C	57802980	2	2	19	1	0	0	0	0	0	0	0	1	17921	1771	62	3		3	ZNF460	19	57802980	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	627559	57802980	1326003	3027	17326											
ZNF17	7565	broad.mit.edu	37	chr19	57929356	57929356	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttaatgacgttcagagacAcctgcacagcgatgtgatgc	10	10	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:57929356A>G	uc002qoo.1	+	2	323	c.92A>G	c.(91-93)CAC>CGC	p.H31R	ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Missense_Mutation_p.H33R	NM_006959	NP_008890	P17021	ZNF17_HUMAN	zinc finger protein 17	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		GTTCAGAGACACCTGCACAGC	0.453													G	57929356	A	G	57929356	3	3	19	1	0	0	0	0	1	0	0	0	17740	159	6	3	98	3	ZNF17	19	57929356	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	126376	57929356	1199627	3028	17327											
ZNF749	388567	broad.mit.edu	37	chr19	57955160	57955161	+	Frame_Shift_Ins	INS	-	-	A													catgggctgtttgagcaccaINSaaaaacccataatggggaga							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:57955159_57955160C>CA	uc002qoq.2	+	2	897_898	c.643_644C>CA	c.(643-645)caafs	p.Q215fs		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GTTTGAGCACCAAAAAACCCAT	0.446													A	57955161	-	A	57955160	7	5	19	1	0	1	1	0	0	0	0	0	18128	130	5	0	654	0	ZNF749	19	57955160	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	25804	57955160	1173823	3029	17328											
ZNF773	374928	broad.mit.edu	37	chr19	58017804	58017804	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccagttcaaacgttcagcAacaccagaagcagcactgtg	9	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:58017804A>G	uc002qox.2	+	4	481	c.341A>G	c.(340-342)CAA>CGA	p.Q114R	ZNF547_uc002qpm.3_Intron|ZNF773_uc002qoy.2_Missense_Mutation_p.Q113R|ZNF773_uc002qoz.2_Intron	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	zinc finger protein 773	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		AACGTTCAGCAACACCAGAAG	0.498													G	58017804	A	G	58017804	3	3	19	1	0	0	0	0	1	0	0	0	18143	130	5	3	355	3	ZNF773	19	58017804	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	62644	58017804	1111179	3030	17329											
ZNF587	84914	broad.mit.edu	37	chr19	58371166	58371166	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagttcacactggagaaagGccatatgcgtgtgaggtatg	14	6	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:58371166G>A	uc002qql.2	+	3	1524	c.1386G>A	c.(1384-1386)AGG>AGA	p.R462R	ZNF587_uc002qqb.2_Silent_p.R419R|ZNF587_uc010yhh.1_Silent_p.R419R|ZNF587_uc002qqi.1_Silent_p.R419R|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Silent_p.R461R	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		CTGGAGAAAGGCCATATGCGT	0.428													A	58371166	G	A	58371166	2	1	19	1	0	0	0	0	0	0	0	1	18017	1194	42	2		2	ZNF587	19	58371166	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	353362	58371166	757817	3031	17330											
ZNF606	80095	broad.mit.edu	37	chr19	58490719	58490719	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagtccgttcatgtttcgtAagggctgagcgattcctaaa	11	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:58490719A>G	uc002qqw.2	-	7	1947	c.1329T>C	c.(1327-1329)CTT>CTC	p.L443L	ZNF606_uc010yhp.1_Silent_p.L353L	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	443	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CATGTTTCGTAAGGGCTGAGC	0.363													G	58490719	A	G	58490719	2	3	19	1	0	0	0	0	0	0	0	1	18029	349	13	3		3	ZNF606	19	58490719	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	119553	58490719	638264	3032	17331											
ZNF135	7694	broad.mit.edu	37	chr19	58578892	58578892	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcacccagcatctgcgaaTccacactggggagaaaccct	8	16	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:58578892T>A	uc010yhq.1	+	5	1172	c.1076T>A	c.(1075-1077)ATC>AAC	p.I359N	ZNF135_uc002qre.2_Missense_Mutation_p.I347N|ZNF135_uc002qrd.1_Missense_Mutation_p.I305N|ZNF135_uc002qrf.2_Missense_Mutation_p.I305N|ZNF135_uc002qrg.2_Missense_Mutation_p.I317N|ZNF135_uc010yhr.1_Missense_Mutation_p.I168N	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	359					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CATCTGCGAATCCACACTGGG	0.572													A	58578892	T	A	58578892	3	1	19	1	0	0	0	0	1	0	0	0	17722	1435	50	5	1243	5	ZNF135	19	58578892	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	88173	58578892	550091	3033	17332											
ZNF544	27300	broad.mit.edu	37	chr19	58772421	58772424	+	Frame_Shift_Del	DEL	TGTT	TGTT	-													ggtactcacctcagagagacTgtttgctcaaagggaacatt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:58772421_58772424delTGTT	uc010euo.2	+	7	923_926	c.449_452delTGTT	c.(448-453)CTGTTTfs	p.L150fs	ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Frame_Shift_Del_p.L122fs|ZNF544_uc010yhy.1_Frame_Shift_Del_p.L122fs|ZNF544_uc002qrt.3_Frame_Shift_Del_p.L8fs|ZNF544_uc002qru.3_Frame_Shift_Del_p.L8fs|uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	zinc finger protein 544	150_151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TCAGAGAGACTGTTTGCTCAAAGG	0.446													-	58772424	TGTT	-	58772421	7	5	19	1	0	1	0	1	0	0	0	0	17974	1580	55	0	463	0	ZNF544	19	58772421	Frame_Shift_Del	DEL	TGTT	TCGA-BR-4361-01A-01D-1158-08	193529	58772421	356562	3034	17333											
ZNF584	201514	broad.mit.edu	37	chr19	58926931	58926931	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgtttacccagctggaGgatgatgaacagtcgtgggt	14	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:58926931G>T	uc002qsp.2	+	3	662	c.210G>T	c.(208-210)GAG>GAT	p.E70D	ZNF584_uc010yia.1_RNA|ZNF584_uc002qsr.2_Missense_Mutation_p.E25D|ZNF584_uc010yib.1_Missense_Mutation_p.E62D	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		CCCAGCTGGAGGATGATGAAC	0.463													T	58926931	G	T	58926931	3	4	19	1	0	0	0	0	1	0	0	0	18013	991	35	5	220	5	ZNF584	19	58926931	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	154510	58926931	202052	3035	17334											
TBC1D20	128637	broad.mit.edu	37	chr20	422520	422520	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgaggtggtgggtagataAtttttctaccagggatgttg	14	5	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:422520A>T	uc002wds.2	-	4	643	c.505T>A	c.(505-507)TTA>ATA	p.L169I	TBC1D20_uc002wdv.2_5'UTR|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	169	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)	1		all_epithelial(17;0.228)|Breast(17;0.231)				TGGGTAGATAATTTTTCTACC	0.542													T	422520	A	T	422520	3	4	19	1	0	0	0	0	1	0	0	0	15606	98	4	5	726	5	TBC1D20	20	422520	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08		422520	62603000	3036	17335											
TGM6	343641	broad.mit.edu	37	chr20	2398211	2398211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgccgtgaggctggggcCgcaagaaggtaagtgtacgc	16	11	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:2398211C>T	uc002wfy.1	+	10	1731	c.1670C>T	c.(1669-1671)CCG>CTG	p.P557L	TGM6_uc010gal.1_Missense_Mutation_p.P557L	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	557					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	AGGCTGGGGCCGCAAGAAGGT	0.592													T	2398211	C	T	2398211	3	4	19	1	0	0	0	0	1	0	0	0	15831	652	23	1	1708	1	TGM6	20	2398211	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1975691	2398211	60627309	3037	17336											
SIGLEC1	6614	broad.mit.edu	37	chr20	3677372	3677372	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagctttagcctggaaccgAccatgggatgggacctgggg	15	10	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:3677372A>G	uc002wja.2	-	10	2544	c.2544T>C	c.(2542-2544)GGT>GGC	p.G848G	SIGLEC1_uc002wiz.3_Silent_p.G848G	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	848	Ig-like C2-type 8.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						CCTGGAACCGACCATGGGATG	0.622													G	3677372	A	G	3677372	2	3	19	1	0	0	0	0	0	0	0	1	14305	262	10	3		3	SIGLEC1	20	3677372	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1279161	3677372	59348148	3038	17337											
C20orf27	54976	broad.mit.edu	37	chr20	3735139	3735139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggacgccctctttgtgcGccgagtactcacacttgaca	10	13	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:3735139G>A	uc002wji.1	-	5	558	c.329C>T	c.(328-330)GCG>GTG	p.A110V	C20orf27_uc002wjf.1_3'UTR|C20orf27_uc002wjh.1_Missense_Mutation_p.A135V	NM_001039140	NP_001034229	Q9GZN8	CT027_HUMAN	hypothetical protein LOC54976	110											0						CTCTTTGTGCGCCGAGTACTC	0.642													A	3735139	G	A	3735139	3	1	19	1	0	0	0	0	1	0	0	0	2107	1087	38	1	203	1	C20orf27	20	3735139	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	57767	3735139	59290381	3039	17338											
MAVS	57506	broad.mit.edu	37	chr20	3842924	3842924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagcaagccctgcagacGctcagccccagagccatccc	9	18	2	3	rs150835407		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:3842924G>A	uc002wjw.3	+	5	658	c.489G>A	c.(487-489)ACG>ACA	p.T163T	MAVS_uc010zqn.1_Missense_Mutation_p.A106T|MAVS_uc002wjx.3_Silent_p.T22T|MAVS_uc002wjy.3_5'UTR	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	163	Cytoplasmic (Probable).				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0						CCCTGCAGACGCTCAGCCCCA	0.587													A	3842924	G	A	3842924	2	1	19	1	0	0	0	0	0	0	0	1	9338	1074	38	1		1	MAVS	20	3842924	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	107785	3842924	59182596	3040	17339											
SMOX	54498	broad.mit.edu	37	chr20	4163028	4163029	+	Frame_Shift_Ins	INS	-	-	G													cagggtggagaggagccccgINSggggggcaggtgggatgagg					rs145014650	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:4163027_4163028C>CG	uc002wkp.2	+	4	1102_1103	c.901_902C>CG	c.(901-903)cggfs	p.R301fs	SMOX_uc010zqo.1_Intron|SMOX_uc002wkk.1_Intron|SMOX_uc002wkl.1_Intron|SMOX_uc002wkm.1_Frame_Shift_Ins_p.R301fs|SMOX_uc002wkn.1_Intron|SMOX_uc002wko.1_Frame_Shift_Ins_p.R301fs	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	Homo sapiens spermine oxidase (SMOX), transcript variant 1, mRNA.	301			R -> P (in dbSNP:rs6084654).		polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	p.R301W(2)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGAGGAGCCCCGGGGGGGCAGG	0.673													G	4163029	-	G	4163028	7	5	19	1	0	1	1	0	0	0	0	0	14803	1116	39	0	916	0	SMOX	20	4163028	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	320104	4163028	58862492	3041	17340											
SLC23A2	9962	broad.mit.edu	37	chr20	4913147	4913147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcctcgtcttcgtatttgCcttctgttgaacttccagcc	7	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:4913147C>T	uc002wlg.1	-	3	437	c.62G>A	c.(61-63)GGC>GAC	p.G21D	SLC23A2_uc010zqr.1_Missense_Mutation_p.G20D|SLC23A2_uc002wlh.1_Missense_Mutation_p.G21D|SLC23A2_uc002wli.2_Missense_Mutation_p.G20D|SLC23A2_uc002wlj.1_RNA	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	21					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2						TTCGTATTTGCCTTCTGTTGA	0.428													T	4913147	C	T	4913147	3	4	19	1	0	0	0	0	1	0	0	0	14463	739	26	2	1950	2	SLC23A2	20	4913147	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	750119	4913147	58112373	3042	17341											
PROKR2	128674	broad.mit.edu	37	chr20	5294607	5294607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggagacgtagagggagaCggtgcgcaggtagttgacgg	21	5	0	4	rs139259742		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:5294607C>T	uc010zqw.1	-	1	409	c.409G>A	c.(409-411)GTC>ATC	p.V137I	PROKR2_uc010zqx.1_Missense_Mutation_p.V137I|PROKR2_uc010zqy.1_Missense_Mutation_p.V137I|uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	137	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5						TAGAGGGAGACGGTGCGCAGG	0.607										HNSCC(71;0.22)			T	5294607	C	T	5294607	3	4	19	1	0	0	0	0	1	0	0	0	12553	536	19	1	752	1	PROKR2	20	5294607	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	381460	5294607	57730913	3043	17342											
GPCPD1	56261	broad.mit.edu	37	chr20	5554591	5554591	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatttcttaaagaagcaatAgtattttcttgaactttagc	6	6	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:5554591A>G	uc002wme.3	-	11	1239	c.1026T>C	c.(1024-1026)ACT>ACC	p.T342T	GPCPD1_uc002wmd.3_Silent_p.T161T	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	hypothetical protein LOC56261	342	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity				0						AAGAAGCAATAGTATTTTCTT	0.338													G	5554591	A	G	5554591	2	3	19	1	0	0	0	0	0	0	0	1	6603	407	15	3		3	GPCPD1	20	5554591	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	259984	5554591	57470929	3044	17343											
LRRN4	164312	broad.mit.edu	37	chr20	6022631	6022631	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgtgcatcgctgtgcggCcatgcagctatcgtgcgaga	13	13	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:6022631C>T	uc002wmo.2	-	5	1484	c.1260G>A	c.(1258-1260)TGG>TGA	p.W420*		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	420	Extracellular (Potential).					integral to membrane				skin(3)	3						CGCTGTGCGGCCATGCAGCTA	0.682													T	6022631	C	T	6022631	4	4	19	1	0	0	0	0	0	1	0	0	9037	740	26	2	966	2	LRRN4	20	6022631	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	468040	6022631	57002889	3045	17344											
PLCB4	5332	broad.mit.edu	37	chr20	9454009	9454009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctagagaaacagaatgaGcaggtattttacctaaaata	7	6	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:9454009G>A	uc002wnf.2	+	36	3592	c.3456G>A	c.(3454-3456)GAG>GAA	p.E1152E	PLCB4_uc010gbx.2_Silent_p.E1164E|PLCB4_uc002wne.2_Silent_p.E1152E|PLCB4_uc002wnh.2_Silent_p.E999E	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	1152					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			skin(11)|ovary(3)|pancreas(1)	15						AACAGAATGAGCAGGTATTTT	0.403													A	9454009	G	A	9454009	2	1	19	1	0	0	0	0	0	0	0	1	12030	962	34	2		2	PLCB4	20	9454009	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3431378	9454009	53571511	3046	17345											
ESF1	51575	broad.mit.edu	37	chr20	13698067	13698067	+	Frame_Shift_Del	DEL	T	T	-													tcatgagctgctttttcttcTttttgctcagattctggtgc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:13698066_13698066CT>C	uc002woj.3	-	12	2319	c.2211_2211AG>G	c.(2209-2211)aagfs	p.K737fs		NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	737	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GCTTTTTCTTCTTTTTGCTCA	0.393													-	13698067	T	-	13698067	7	5	19	1	0	1	0	1	0	0	0	0	5251	1609	56	0	353	0	ESF1	20	13698067	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	4244058	13698067	49327453	3047	17346											
ESF1	51575	broad.mit.edu	37	chr20	13740434	13740434	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctgtatttagcaattTgttcttcatcatccttctga	6	10	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:13740434T>A	uc002woj.2	-	9	1841	c.1733A>T	c.(1732-1734)CAA>CTA	p.Q578L	ESF1_uc002wok.1_Missense_Mutation_p.Q578L	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	578	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1						TTTAGCAATTTGTTCTTCATC	0.328													A	13740434	T	A	13740434	3	1	19	1	0	0	0	0	1	0	0	0	5251	1812	63	5	846	5	ESF1	20	13740434	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	42367	13740434	49285086	3048	17347											
ESF1	51575	broad.mit.edu	37	chr20	13763447	13763447	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccttcttggtttctttctTtttctcaactagattttttg	5	8	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:13763447T>C	uc002woj.2	-	2	448	c.340A>G	c.(340-342)AAG>GAG	p.K114E	ESF1_uc002wok.1_Missense_Mutation_p.K114E|C20orf7_uc002wol.1_5'Flank|C20orf7_uc002wom.2_5'Flank|C20orf7_uc002won.2_5'Flank|C20orf7_uc002woo.2_5'Flank	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	114	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1						GTTTCTTTCTTTTTCTCAACT	0.279													C	13763447	T	C	13763447	3	2	19	1	0	0	0	0	1	0	0	0	5251	1850	64	3	2267	3	ESF1	20	13763447	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	23013	13763447	49262073	3049	17348											
SEL1L2	80343	broad.mit.edu	37	chr20	13868465	13868465	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcaacttcacaattctgtAgaacattgattcccgacaaa	7	10	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:13868465A>G	uc010gcf.2	-	8	777	c.695T>C	c.(694-696)CTA>CCA	p.L232P	SEL1L2_uc002woq.3_Missense_Mutation_p.L93P|SEL1L2_uc010zrl.1_Missense_Mutation_p.L232P|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	232	Sel1-like 4.|Extracellular (Potential).					integral to membrane	binding			ovary(2)	2						ACAATTCTGTAGAACATTGAT	0.318													G	13868465	A	G	13868465	3	3	19	1	0	0	0	0	1	0	0	0	14011	420	15	3	1423	3	SEL1L2	20	13868465	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	105018	13868465	49157055	3050	17349											
SEL1L2	80343	broad.mit.edu	37	chr20	13912277	13912277	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatttctcttcaagatatcTttattttgaattccttttat	2	6	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:13912277T>C	uc010gcf.2	-	3	337	c.255A>G	c.(253-255)AAA>AAG	p.K85K	SEL1L2_uc002woq.3_5'UTR|SEL1L2_uc010zrl.1_Silent_p.K85K|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	85	Extracellular (Potential).					integral to membrane	binding			ovary(2)	2						TCAAGATATCTTTATTTTGAA	0.249													C	13912277	T	C	13912277	2	2	19	1	0	0	0	0	0	0	0	1	14011	1606	56	3		3	SEL1L2	20	13912277	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	43812	13912277	49113243	3051	17350											
KIF16B	55614	broad.mit.edu	37	chr20	16488730	16488730	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtcaccataattctgtactAaatgtttggataaatctgaa	6	7	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:16488730A>G	uc002wpg.1	-	7	730	c.572T>C	c.(571-573)TTA>TCA	p.L191S	KIF16B_uc010gch.1_Missense_Mutation_p.L191S|KIF16B_uc010gci.1_Missense_Mutation_p.L191S|KIF16B_uc010gcj.1_Missense_Mutation_p.L191S	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	191	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						ATTCTGTACTAAATGTTTGGA	0.403													G	16488730	A	G	16488730	3	3	19	1	0	0	0	0	1	0	0	0	8278	372	13	3	3461	3	KIF16B	20	16488730	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2576453	16488730	46536790	3052	17351											
SNRPB2	6629	broad.mit.edu	37	chr20	16721539	16721539	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaccagggaggcatgacatTgcttttgttgaatttgaaaa	11	5	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:16721539T>C	uc002wph.1	+	7	783	c.567T>C	c.(565-567)ATT>ATC	p.I189I	SNRPB2_uc002wpi.1_Silent_p.I189I	NM_003092	NP_003083	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B''	189	RRM 2.					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(1)	1						GGCATGACATTGCTTTTGTTG	0.428													C	16721539	T	C	16721539	2	2	19	1	0	0	0	0	0	0	0	1	14862	1800	63	3		3	SNRPB2	20	16721539	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	232809	16721539	46303981	3053	17352											
DSTN	11034	broad.mit.edu	37	chr20	17581680	17581681	+	Frame_Shift_Ins	INS	-	-	T													cagaaaagaagagttgatgtINStttttttgtggtaagcatgt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:17581679_17581680G>GT	uc002wpr.3	+	1	555_556	c.300_301G>GT	c.(298-303)atgtttfs	p.M100fs	DSTN_uc002wpq.3_Frame_Shift_Ins_p.M83fs|DSTN_uc010gck.3_Frame_Shift_Ins_p.M83fs	NM_006870	NP_001011546	P60981	DEST_HUMAN	Homo sapiens destrin (actin depolymerizing factor) (DSTN), transcript variant 1, mRNA.	100	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AAGAGTTGATGTTTTTTTTGTG	0.356													T	17581681	-	T	17581680	7	5	19	1	0	1	1	0	0	0	0	0	4784	1725	60	0	307	0	DSTN	20	17581680	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	860141	17581680	45443840	3054	17353											
RBBP9	10741	broad.mit.edu	37	chr20	18476496	18476496	+	Frame_Shift_Del	DEL	T	T	-													acttacttgggtcgggcatgTttttagccaaacactggaaa							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:18476496delT	uc002wqy.2	-	2	204	c.128delA	c.(127-129)AACfs	p.N43fs		NM_006606	NP_006597	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	43						cytoplasm|nucleus	hydrolase activity			haematopoietic_and_lymphoid_tissue(1)	1						GTCGGGCATGTTTTTAGCCAA	0.328													-	18476496	T	-	18476496	7	5	19	1	0	1	0	1	0	0	0	0	13106	1725	60	0	448	0	RBBP9	20	18476496	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	894816	18476496	44549024	3055	17354											
CRNKL1	51340	broad.mit.edu	37	chr20	20018070	20018070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaattcttcttcaaaacttCgccaagattccagcagcata	4	12	3	1	rs141413150		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:20018070C>T	uc002wrs.2	-	14	2308	c.2276G>A	c.(2275-2277)CGA>CAA	p.R759Q		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	759	HAT 15.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3						TTCAAAACTTCGCCAAGATTC	0.393													T	20018070	C	T	20018070	3	4	19	1	0	0	0	0	1	0	0	0	3891	884	31	1	278	1	CRNKL1	20	20018070	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1541574	20018070	43007450	3056	17355											
C20orf26	26074	broad.mit.edu	37	chr20	20180469	20180469	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcattacttggttcccgtgCgaccacgacgacagattgtc	9	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:20180469C>T	uc002wru.2	+	17	1931	c.1855C>T	c.(1855-1857)CGA>TGA	p.R619*	C20orf26_uc010zse.1_Nonsense_Mutation_p.R599*	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	619										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		GGTTCCCGTGCGACCACGACG	0.532													T	20180469	C	T	20180469	4	4	19	1	0	0	0	0	0	1	0	0	2106	760	27	1	1949	1	C20orf26	20	20180469	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	162399	20180469	42845051	3057	17356											
XRN2	22803	broad.mit.edu	37	chr20	21307158	21307158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaatgaagatgaaatgatGgttgcaatttttgagtacat	9	2	0	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:21307158G>A	uc002wsf.1	+	3	329	c.234G>A	c.(232-234)ATG>ATA	p.M78I	XRN2_uc002wsg.1_Missense_Mutation_p.M2I|XRN2_uc010zsk.1_Missense_Mutation_p.M24I	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	78					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1						ATGAAATGATGGTTGCAATTT	0.318													A	21307158	G	A	21307158	3	1	19	1	0	0	0	0	1	0	0	0	17457	1348	47	4	244	4	XRN2	20	21307158	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1126689	21307158	41718362	3058	17357											
PAX1	5075	broad.mit.edu	37	chr20	21687619	21687619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccggggtcccgggcacggCgggccacgtcagcatcccgc	15	19	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:21687619C>T	uc002wsj.2	+	2	884	c.830C>T	c.(829-831)GCG>GTG	p.A277V	PAX1_uc010zsl.1_Missense_Mutation_p.A277V|PAX1_uc010zsm.1_Missense_Mutation_p.A253V	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	277					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						CCGGGCACGGCGGGCCACGTC	0.667													T	21687619	C	T	21687619	3	4	19	1	0	0	0	0	1	0	0	0	11478	768	27	1	836	1	PAX1	20	21687619	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	380461	21687619	41337901	3059	17358											
SSTR4	6754	broad.mit.edu	37	chr20	23016853	23016853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgccgtggccctgcgcGctggctggcagcagcgcagg	18	15	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:23016853G>A	uc002wsr.2	+	1	797	c.733G>A	c.(733-735)GCT>ACT	p.A245T		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	245	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCCCTGCGCGCTGGCTGGCA	0.627													A	23016853	G	A	23016853	3	1	19	1	0	0	0	0	1	0	0	0	15199	1087	38	1	735	1	SSTR4	20	23016853	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1329234	23016853	40008667	3060	17359											
CST11	140880	broad.mit.edu	37	chr20	23433295	23433295	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccttgttatactggtcggTgatccactgcaagctgtcct	9	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:23433295T>C	uc002wtf.1	-	1	188	c.154A>G	c.(154-156)ACC>GCC	p.T52A	CST11_uc002wtg.1_Missense_Mutation_p.T52A	NM_130794	NP_570612	Q9H112	CST11_HUMAN	cystatin 11 isoform 1 precursor	52					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TACTGGTCGGTGATCCACTGC	0.493													C	23433295	T	C	23433295	3	2	19	1	0	0	0	0	1	0	0	0	3971	1696	59	3	274	3	CST11	20	23433295	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	416442	23433295	39592225	3061	17360											
CST8	10047	broad.mit.edu	37	chr20	23473656	23473656	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgcagcgattgcagaaagcCtttaagcactaatgaaatct	8	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:23473656C>A	uc002wth.1	+	3	650	c.293C>A	c.(292-294)CCT>CAT	p.P98H		NM_005492	NP_005483	O60676	CST8_HUMAN	cystatin 8 precursor	98						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TGCAGAAAGCCTTTAAGCACT	0.423													A	23473656	C	A	23473656	3	1	19	1	0	0	0	0	1	0	0	0	3978	681	24	5	299	5	CST8	20	23473656	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	40361	23473656	39551864	3062	17361											
CST9L	128821	broad.mit.edu	37	chr20	23548916	23548916	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccttgctctgttggttgaAtgtgtggacagcaaactcca	11	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:23548916A>G	uc002wtk.3	-	1	471	c.172T>C	c.(172-174)TTC>CTC	p.F58L		NM_080610	NP_542177	Q9H4G1	CST9L_HUMAN	cystatin 9-like precursor	58						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TGTTGGTTGAATGTGTGGACA	0.527													G	23548916	A	G	23548916	3	3	19	1	0	0	0	0	1	0	0	0	3980	101	4	3	283	3	CST9L	20	23548916	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	75260	23548916	39476604	3063	17362											
ZNF337	26152	broad.mit.edu	37	chr20	25657018	25657018	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgtatgaggacttatcGttaaaccttcgcccacactc	7	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:25657018G>A	uc002wva.2	-	4	1428	c.906C>T	c.(904-906)AAC>AAT	p.N302N	uc002wuz.2_RNA|ZNF337_uc010ztg.1_Silent_p.N270N|ZNF337_uc002wvb.2_Silent_p.N302N|ZNF337_uc002wvc.2_Silent_p.N302N	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	302	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGGACTTATCGTTAAACCTTC	0.483													A	25657018	G	A	25657018	2	1	19	1	0	0	0	0	0	0	0	1	17850	1136	40	1		1	ZNF337	20	25657018	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2108102	25657018	37368502	3064	17363											
MYLK2	85366	broad.mit.edu	37	chr20	30421541	30421541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaacttcattgctgtcagcGctgccaaccgcttcaagaag	8	12	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:30421541G>A	uc002wwq.2	+	13	1834	c.1732G>A	c.(1732-1734)GCT>ACT	p.A578T	MYLK2_uc002wws.2_Missense_Mutation_p.A195T|MYLK2_uc010gdw.1_RNA	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	skeletal myosin light chain kinase	578	Calmodulin-binding (By similarity).				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGCTGTCAGCGCTGCCAACCG	0.612											OREG0025857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	30421541	G	A	30421541	3	1	19	1	0	0	0	0	1	0	0	0	10057	1087	38	1	1778	1	MYLK2	20	30421541	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	4764523	30421541	32603979	3065	17364											
DUSP15	128853	broad.mit.edu	37	chr20	30436221	30436221	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccttcagcgggtacaagAagaggaagcggctcgcttag	14	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:30436221A>G	uc002wwu.1	-	10	951	c.874T>C	c.(874-876)TCT>CCT	p.S292P	FOXS1_uc002wwt.1_5'Flank			Q9H1R2	DUS15_HUMAN	RecName: Full=Dual specificity protein phosphatase 15;          EC=3.1.3.48;          EC=3.1.3.16; AltName: Full=Vaccinia virus VH1-related dual-specific protein phosphatase Y; AltName: Full=VH1-related member Y;	292						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CGGGTACAAGAAGAGGAAGCG	0.632													G	30436221	A	G	30436221	3	3	19	1	0	0	0	0	1	0	0	0	4815	261	9	3		3	DUSP15	20	30436221	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	14680	30436221	32589299	3066	17365											
HCK	3055	broad.mit.edu	37	chr20	30681809	30681809	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgaggacaacgagtacacGgctcgggaaggtagggaacg	16	7	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:30681809G>T	uc002wxh.2	+	11	1407	c.1236G>T	c.(1234-1236)ACG>ACT	p.T412T	HCK_uc010gdy.2_Silent_p.T391T|HCK_uc002wxi.2_Silent_p.T390T	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	412	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGAGTACACGGCTCGGGAAG	0.542													T	30681809	G	T	30681809	2	4	19	1	0	0	0	0	0	0	0	1	6994	1103	39	5		5	HCK	20	30681809	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	245588	30681809	32343711	3067	17366											
ASXL1	171023	broad.mit.edu	37	chr20	31021711	31021711	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaggagcccaaagtcccGcccatccgggtaggagactg	13	12	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:31021711G>A	uc002wxs.2	+	11	2136	c.1710G>A	c.(1708-1710)CCG>CCA	p.P570P	ASXL1_uc010geb.2_Silent_p.P461P	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	570					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						CCAAAGTCCCGCCCATCCGGG	0.517			F|N|Mis		MDS|CMML								A	31021711	G	A	31021711	2	1	19	1	0	0	0	0	0	0	0	1	1066	1074	38	1		1	ASXL1	20	31021711	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	339902	31021711	32003809	3068	17367											
ASXL1	171023	broad.mit.edu	37	chr20	31024634	31024634	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagaatgagaagactttTgtggggggtcctcttaaggc	14	6	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:31024634T>C	uc002wxs.2	+	12	4545	c.4119T>C	c.(4117-4119)TTT>TTC	p.F1373F	ASXL1_uc010geb.2_Silent_p.F1264F	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	1373					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						AGAAGACTTTTGTGGGGGGTC	0.532			F|N|Mis		MDS|CMML								C	31024634	T	C	31024634	2	2	19	1	0	0	0	0	0	0	0	1	1066	1809	63	3		3	ASXL1	20	31024634	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2923	31024634	32000886	3069	17368											
SUN5	140732	broad.mit.edu	37	chr20	31573693	31573693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaaaggcccagcaattgCcaggtgtcacgttgggctag	12	12	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:31573693C>T	uc002wyi.2	-	11	839	c.746G>A	c.(745-747)GGC>GAC	p.G249D		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	sperm associated antigen 4-like	249	SUN.				spermatogenesis					skin(1)	1						CCAGCAATTGCCAGGTGTCAC	0.552													T	31573693	C	T	31573693	3	4	19	1	0	0	0	0	1	0	0	0	15391	739	26	2	405	2	SUN5	20	31573693	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	549059	31573693	31451827	3070	17369											
BPIL3	128859	broad.mit.edu	37	chr20	31624279	31624279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgggccagatgggcacCgtcaaatatgttctgatgtc	12	10	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:31624279C>T	uc010zuc.1	+	7	606	c.606C>T	c.(604-606)ACC>ACT	p.T202T	BPIL3_uc010zud.1_Silent_p.T141T	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	bactericidal/permeability-increasing	202						extracellular region	lipid binding			ovary(1)|pancreas(1)	2						AGATGGGCACCGTCAAATATG	0.587													T	31624279	C	T	31624279	2	4	19	1	0	0	0	0	0	0	0	1	1493	639	23	1		1	BPIL3	20	31624279	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	50586	31624279	31401241	3071	17370											
MYH7B	57644	broad.mit.edu	37	chr20	33577634	33577634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagctctacgacaaccacgCggggaagtcacccaatttcc	8	15	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:33577634C>T	uc002xbi.1	+	18	1897	c.1805C>T	c.(1804-1806)GCG>GTG	p.A602V	MIR499_hsa-mir-499|MI0003183_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	560	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GACAACCACGCGGGGAAGTCA	0.612													T	33577634	C	T	33577634	3	4	19	1	0	0	0	0	1	0	0	0	10040	768	27	1	1875	1	MYH7B	20	33577634	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1953355	33577634	29447886	3072	17371											
TRPC4AP	26133	broad.mit.edu	37	chr20	33591350	33591350	+	Frame_Shift_Del	DEL	G	G	-													ctgcagcagccgcaggtacaGgggcagccgctctttccgtc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:33591349_33591349AG>A	uc002xbk.3	-	17	2154	c.2120_2120CT>T	c.(2119-2121)ctgfs	p.L707fs	TRPC4AP_uc002xbj.3_Non-coding_Transcript|TRPC4AP_uc010zuq.2_Frame_Shift_Del_p.L298fs|TRPC4AP_uc010zur.2_Frame_Shift_Del_p.L668fs|TRPC4AP_uc002xbl.3_Frame_Shift_Del_p.L699fs	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 associated protein (TRPC4AP), transcript variant 1, mRNA.	707					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCGCAGGTACAGGGGCAGCCG	0.627													-	33591350	G	-	33591350	7	5	19	1	0	1	0	1	0	0	0	0	16578	991	35	0	282	0	TRPC4AP	20	33591350	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	13716	33591350	29434170	3073	17372											
EDEM2	55741	broad.mit.edu	37	chr20	33722673	33722673	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccaatccctgccgtacaGgtgacaggggtctctcctgg	12	14	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:33722673G>A	uc002xbo.2	-	6	670	c.570C>T	c.(568-570)ACC>ACT	p.T190T	EDEM2_uc010zuv.1_Silent_p.T149T|EDEM2_uc010zus.1_5'UTR|EDEM2_uc002xbq.2_Silent_p.T153T|EDEM2_uc010zut.1_Silent_p.T149T|EDEM2_uc002xbp.2_Silent_p.T38T|EDEM2_uc002xbn.2_Silent_p.T38T|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Intron	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like	190					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTGCCGTACAGGTGACAGGGG	0.527													A	33722673	G	A	33722673	2	1	19	1	0	0	0	0	0	0	0	1	4912	987	35	4		4	EDEM2	20	33722673	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	131323	33722673	29302847	3074	17373											
CEP250	11190	broad.mit.edu	37	chr20	34060621	34060621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaggctcttactctggtgCgttcagtgctgactcggaga	12	10	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:34060621C>T	uc002xcm.2	+	13	1845	c.1174C>T	c.(1174-1176)CGT>TGT	p.R392C	CEP250_uc010zve.1_5'UTR|CEP250_uc010zvd.1_RNA	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	392					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TACTCTGGTGCGTTCAGTGCT	0.512													T	34060621	C	T	34060621	3	4	19	1	0	0	0	0	1	0	0	0	3252	768	27	1	1208	1	CEP250	20	34060621	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	337948	34060621	28964899	3075	17374											
PHF20	51230	broad.mit.edu	37	chr20	34519240	34519240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacatatgcatggcctggCatttctagaagagaactact	11	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:34519240C>T	uc002xek.1	+	15	2285	c.2174C>T	c.(2173-2175)GCA>GTA	p.A725V		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	725					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					CATGGCCTGGCATTTCTAGAA	0.507													T	34519240	C	T	34519240	3	4	19	1	0	0	0	0	1	0	0	0	11831	710	25	2	2228	2	PHF20	20	34519240	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	458619	34519240	28506280	3076	17375											
C20orf4	25980	broad.mit.edu	37	chr20	34827850	34827850	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctttgaaggggccacTgtggtcatcctgaacatgcc	10	12	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:34827850T>C	uc002xfc.1	+	2	153	c.60T>C	c.(58-60)ACT>ACC	p.T20T	C20orf4_uc002xfd.1_Silent_p.T20T|C20orf4_uc002xfe.1_Silent_p.T20T	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	hypothetical protein LOC25980	20											0	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)				AAGGGGCCACTGTGGTCATCC	0.557													C	34827850	T	C	34827850	2	2	19	1	0	0	0	0	0	0	0	1	2111	1567	55	3		3	C20orf4	20	34827850	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	308610	34827850	28197670	3077	17376											
C20orf4	25980	broad.mit.edu	37	chr20	34828400	34828400	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agatgaagcccagagccgggAcagagatccgcttctcagag	13	11	1	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:34828400A>T	uc002xfc.1	+	2	703	c.610A>T	c.(610-612)ACA>TCA	p.T204S	C20orf4_uc002xfd.1_Missense_Mutation_p.T204S|C20orf4_uc002xfe.1_Missense_Mutation_p.T204S	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	hypothetical protein LOC25980	204											0	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)				CAGAGCCGGGACAGAGATCCG	0.607													T	34828400	A	T	34828400	3	4	19	1	0	0	0	0	1	0	0	0	2111	275	10	5	612	5	C20orf4	20	34828400	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	550	34828400	28197120	3078	17377											
DLGAP4	22839	broad.mit.edu	37	chr20	35128652	35128652	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgacgggacacagactcggAtacccaggatgccaatgact	11	13	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:35128652A>G	uc002xff.2	+	10	2576	c.2141A>G	c.(2140-2142)GAT>GGT	p.D714G	DLGAP4_uc010zvp.1_Missense_Mutation_p.D714G|DLGAP4_uc002xfg.2_Missense_Mutation_p.D10G|DLGAP4_uc002xfh.2_Missense_Mutation_p.D178G|DLGAP4_uc002xfi.2_Missense_Mutation_p.D23G|DLGAP4_uc002xfj.2_Missense_Mutation_p.D10G	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	717					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACAGACTCGGATACCCAGGAT	0.602													G	35128652	A	G	35128652	3	3	19	1	0	0	0	0	1	0	0	0	4562	333	12	3	2299	3	DLGAP4	20	35128652	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	300252	35128652	27896868	3079	17378											
SLA2	84174	broad.mit.edu	37	chr20	35242709	35242709	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggagtccccaactttaccTgtccagctctttccagttga	7	14	1	1	rs147433804		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:35242709T>C	uc002xfv.2	-	7	1026	c.664A>G	c.(664-666)AGC>GGC	p.S222G	SLA2_uc002xfu.2_Missense_Mutation_p.Q205R	NM_032214	NP_115590	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2 isoform a	222	SLA C-terminal.				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity				0	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CAACTTTACCTGTCCAGCTCT	0.572													C	35242709	T	C	35242709	3	2	19	1	0	0	0	0	1	0	0	0	14364	1594	55	3	129	3	SLA2	20	35242709	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	114057	35242709	27782811	3080	17379											
SAMHD1	25939	broad.mit.edu	37	chr20	35533903	35533903	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ataaaatctccagaaaaatgTtatctgccaatttaatgaca	4	7	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:35533903T>A	uc002xgh.1	-	12	1404	c.1274A>T	c.(1273-1275)AAC>ATC	p.N425I	SAMHD1_uc010gft.1_RNA	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	425					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity				0		Myeloproliferative disorder(115;0.00878)				CAGAAAAATGTTATCTGCCAA	0.289													A	35533903	T	A	35533903	3	1	19	1	0	0	0	0	1	0	0	0	13828	1725	60	5	626	5	SAMHD1	20	35533903	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	291194	35533903	27491617	3081	17380											
C20orf132	140699	broad.mit.edu	37	chr20	35766264	35766264	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgagcactatatctgtgTacttgggtctggatataaat	10	6	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:35766264T>C	uc010zvu.1	-	15	1719	c.1628A>G	c.(1627-1629)TAC>TGC	p.Y543C	C20orf132_uc002xgk.2_Missense_Mutation_p.Y165C|C20orf132_uc002xgm.2_Missense_Mutation_p.Y543C|C20orf132_uc002xgn.2_Missense_Mutation_p.Y508C	NM_152503	NP_689716	Q9H579	CT132_HUMAN	hypothetical protein LOC140699 isoform 1	418											0		Myeloproliferative disorder(115;0.00878)				TATATCTGTGTACTTGGGTCT	0.408													C	35766264	T	C	35766264	3	2	19	1	0	0	0	0	1	0	0	0	2086	1638	57	3	1590	3	C20orf132	20	35766264	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	232361	35766264	27259256	3082	17381											
TGM2	7052	broad.mit.edu	37	chr20	36766734	36766734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtctcctccttctcggCcagtttgttcaggtggttcg	10	14	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:36766734C>T	uc002xhr.2	-	10	1496	c.1396G>A	c.(1396-1398)GCC>ACC	p.A466T	TGM2_uc010zvx.1_Missense_Mutation_p.A385T|TGM2_uc010zvy.1_Missense_Mutation_p.A406T|TGM2_uc002xhs.1_Missense_Mutation_p.A442T|TGM2_uc002xht.2_Missense_Mutation_p.A466T	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	466					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TCCTTCTCGGCCAGTTTGTTC	0.557													T	36766734	C	T	36766734	3	4	19	1	0	0	0	0	1	0	0	0	15827	739	26	2	715	2	TGM2	20	36766734	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1000470	36766734	26258786	3083	17382											
KIAA1755	85449	broad.mit.edu	37	chr20	36874452	36874452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacacctgacccaggacgGtgggtgctgtggcctcgaaa	15	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:36874452G>A	uc002xhy.1	-	2	352	c.80C>T	c.(79-81)ACC>ATC	p.T27I	KIAA1755_uc002xhz.1_Missense_Mutation_p.T27I	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	27										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)				ACCCAGGACGGTGGGTGCTGT	0.637													A	36874452	G	A	36874452	3	1	19	1	0	0	0	0	1	0	0	0	8257	1261	44	4	3574	4	KIAA1755	20	36874452	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	107718	36874452	26151068	3084	17383											
SLC32A1	140679	broad.mit.edu	37	chr20	37357012	37357012	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgggggctgacgctgcgCtgcgcgctcgtcgtcttcac	14	15	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:37357012C>T	uc002xjc.2	+	2	1571	c.1308C>T	c.(1306-1308)CGC>CGT	p.R436R		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	436	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGACGCTGCGCTGCGCGCTCG	0.672													T	37357012	C	T	37357012	2	4	19	1	0	0	0	0	0	0	0	1	14565	784	28	2		2	SLC32A1	20	37357012	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	482560	37357012	25668508	3085	17384											
ACTR5	79913	broad.mit.edu	37	chr20	37400389	37400389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccgaagcaggcctcccGctcctcagatgcccaggcat	10	18	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:37400389G>A	uc002xjd.2	+	9	1779	c.1754G>A	c.(1753-1755)CGC>CAC	p.R585H		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog	585					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding				0		Myeloproliferative disorder(115;0.00878)				CAGGCCTCCCGCTCCTCAGAT	0.597													A	37400389	G	A	37400389	3	1	19	1	0	0	0	0	1	0	0	0	215	1087	38	1	1788	1	ACTR5	20	37400389	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	43377	37400389	25625131	3086	17385											
PLCG1	5335	broad.mit.edu	37	chr20	39788775	39788775	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagcagttttactcagtggAtcggaatcgtgaggatcggt	14	6	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:39788775A>T	uc002xjp.1	+	4	615	c.494A>T	c.(493-495)GAT>GTT	p.D165V	PLCG1_uc002xjo.1_Missense_Mutation_p.D165V	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	165	EF-hand.|Potential.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				TACTCAGTGGATCGGAATCGT	0.582													T	39788775	A	T	39788775	3	4	19	1	0	0	0	0	1	0	0	0	12035	333	12	5	508	5	PLCG1	20	39788775	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	2388386	39788775	23236745	3087	17386											
PLCG1	5335	broad.mit.edu	37	chr20	39792749	39792749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggacggcccggatgggatGccagttatttaccatgggca	15	9	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:39792749G>A	uc002xjp.1	+	12	1246	c.1125G>A	c.(1123-1125)ATG>ATA	p.M375I	PLCG1_uc002xjo.1_Missense_Mutation_p.M375I|PLCG1_uc010zwe.1_Missense_Mutation_p.M1I|PLCG1_uc010ggf.2_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	375	PI-PLC X-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				CGGATGGGATGCCAGTTATTT	0.597													A	39792749	G	A	39792749	3	1	19	1	0	0	0	0	1	0	0	0	12035	1319	46	2	1171	2	PLCG1	20	39792749	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3974	39792749	23232771	3088	17387											
ZHX3	23051	broad.mit.edu	37	chr20	39832810	39832810	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgttggcggcatggggGttttttgcagagctggcaga	18	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:39832810G>T	uc002xjs.1	-	3	1125	c.747C>A	c.(745-747)AAC>AAA	p.N249K	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.N249K|ZHX3_uc002xjt.1_Missense_Mutation_p.N249K|ZHX3_uc002xju.1_Missense_Mutation_p.N249K|ZHX3_uc002xjv.1_Missense_Mutation_p.N249K|ZHX3_uc002xjw.1_Missense_Mutation_p.N249K|ZHX3_uc010ggg.1_Missense_Mutation_p.N249K	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	249	Required for homodimerization and interaction with NFYA.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				CGGCATGGGGGTTTTTTGCAG	0.587													T	39832810	G	T	39832810	3	4	19	1	0	0	0	0	1	0	0	0	17674	1252	44	5	2131	5	ZHX3	20	39832810	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	40061	39832810	23192710	3089	17388											
EMILIN3	90187	broad.mit.edu	37	chr20	39990930	39990930	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccacacctccctcgagcaTggcagcagagagcctcgtaa	10	15	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:39990930T>C	uc002xjy.1	-	4	1503	c.1279A>G	c.(1279-1281)ATG>GTG	p.M427V		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	427						proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)				CCCTCGAGCATGGCAGCAGAG	0.657													C	39990930	T	C	39990930	3	2	19	1	0	0	0	0	1	0	0	0	5095	1464	51	3	1025	3	EMILIN3	20	39990930	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	158120	39990930	23034590	3090	17389											
MYBL2	4605	broad.mit.edu	37	chr20	42310462	42310462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgaggcagtttggacaGcaggactggaagttcctggc	16	8	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:42310462G>A	uc002xlb.1	+	3	368	c.153G>A	c.(151-153)CAG>CAA	p.Q51Q	MYBL2_uc010zwj.1_Intron|MYBL2_uc002xla.1_Silent_p.Q51Q	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	51	HTH myb-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGTTTGGACAGCAGGACTGGA	0.617													A	42310462	G	A	42310462	2	1	19	1	0	0	0	0	0	0	0	1	10010	962	34	2		2	MYBL2	20	42310462	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2319532	42310462	20715058	3091	17390											
MYBL2	4605	broad.mit.edu	37	chr20	42331178	42331178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttgacctccctgaggaaCcatctgcagaggacagtatc	9	11	1	3	rs111283547		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:42331178C>T	uc002xlb.1	+	8	1215	c.1000C>T	c.(1000-1002)CCA>TCA	p.P334S	MYBL2_uc010zwj.1_Missense_Mutation_p.P310S|MYBL2_uc002xla.1_Missense_Mutation_p.P334S	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	334						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCCTGAGGAACCATCTGCAGA	0.537													T	42331178	C	T	42331178	3	4	19	1	0	0	0	0	1	0	0	0	10010	507	18	4	1030	4	MYBL2	20	42331178	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	20716	42331178	20694342	3092	17391											
JPH2	57158	broad.mit.edu	37	chr20	42744601	42744601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcgggcggcgtggtgcGcacagcatagctgtggtagc	19	10	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:42744601G>A	uc002xli.1	-	4	2587	c.1714C>T	c.(1714-1716)CGC>TGC	p.R572C		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	572	Pro-rich.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGCGTGGTGCGCACAGCATAG	0.736													A	42744601	G	A	42744601	3	1	19	1	0	0	0	0	1	0	0	0	7961	1087	38	1	384	1	JPH2	20	42744601	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	413423	42744601	20280919	3093	17392											
KCNK15	60598	broad.mit.edu	37	chr20	43379277	43379278	+	Frame_Shift_Ins	INS	-	-	C													gcccgcacccccagcccgcgINSccccccgggggcgcccgaga							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:43379277_43379278insC	uc002xmr.2	+	2	855_856	c.791_792insC	c.(790-792)CGCfs	p.R264fs		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	potassium family, subfamily K, member 15	264	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		Myeloproliferative disorder(115;0.0122)				CCCAgcccgcgccccccggggg	0.634													C	43379278	-	C	43379277	7	5	19	1	0	1	1	0	0	0	0	0	8062	1087	38	0	797	0	KCNK15	20	43379277	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	634676	43379277	19646243	3094	17393	58	2									
KCNK15	60598	broad.mit.edu	37	chr20	43379278	43379279	+	Frame_Shift_Ins	INS	-	-	C													cccgcacccccagcccgcgcINScccccgggggcgcccgagag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:43379277_43379278G>GC	uc002xmr.3	+	1	855_856	c.791_792G>GC	c.(790-792)cgcfs	p.R264fs		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	Homo sapiens potassium channel, subfamily K, member 15 (KCNK15), mRNA.	264						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				CCCAgcccgcgccccccggggg	0.752													C	43379279	-	C	43379278	7	5	19	1	0	1	1	0	0	0	0	0	8062	726	26	0	798	0	KCNK15	20	43379278	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	1	43379278	19646242	3095	17394	58	2									
PABPC1L	80336	broad.mit.edu	37	chr20	43545398	43545398	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcctccctgtggcccaggTggcgtgtgacgagcatggct	14	13	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:43545398T>C	uc010ggv.1	+	3	471	c.389T>C	c.(388-390)GTG>GCG	p.V130A	PABPC1L_uc010zwq.1_RNA	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	poly(A)-binding protein, cytoplasmic 1-like	130	RRM 2.						nucleotide binding|RNA binding			ovary(1)	1						GTGGCCCAGGTGGCGTGTGAC	0.567													C	43545398	T	C	43545398	3	2	19	1	0	0	0	0	1	0	0	0	11364	1710	59	3	399	3	PABPC1L	20	43545398	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	166120	43545398	19480122	3096	17395											
SLPI	6590	broad.mit.edu	37	chr20	43882339	43882339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtatctaaggcactgggCagatttcttaggaggacaga	12	7	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:43882339C>T	uc002xnm.1	-	2	143	c.121G>A	c.(121-123)GCC>ACC	p.A41T		NM_003064	NP_003055	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	41	Trypsin inhibitory domain.|WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				AGGCACTGGGCAGATTTCTTA	0.507													T	43882339	C	T	43882339	3	4	19	1	0	0	0	0	1	0	0	0	14753	710	25	2	289	2	SLPI	20	43882339	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	336941	43882339	19143181	3097	17396											
DNTTIP1	116092	broad.mit.edu	37	chr20	44433785	44433785	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctctattttttgcacagTgggacccagctcgcctgaat	8	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:44433785T>C	uc002xpk.2	+	9	672	c.604T>C	c.(604-606)TGG>CGG	p.W202R		NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	terminal deoxynucleotidyltransferase interacting	202						nucleus				ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.0122)				TTTTGCACAGTGGGACCCAGC	0.478													C	44433785	T	C	44433785	3	2	19	1	0	0	0	0	1	0	0	0	4681	1710	59	3	638	3	DNTTIP1	20	44433785	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	551446	44433785	18591735	3098	17397											
DNTTIP1	116092	broad.mit.edu	37	chr20	44433957	44433957	+	Frame_Shift_Del	DEL	G	G	-													cttttcagagccctggggatGgggggcaccagaggaagaat							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:44433956_44433956TG>T	uc002xpk.3	+	9	742	c.674_674TG>T	c.(673-675)atgfs	p.M225fs		NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 1 (DNTTIP1), mRNA.	225						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GCCCTGGGGATGGGGGGCACC	0.507													-	44433957	G	-	44433957	7	5	19	1	0	1	0	1	0	0	0	0	4681	1348	47	0	713	0	DNTTIP1	20	44433957	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	172	44433957	18591563	3099	17398											
SNX21	90203	broad.mit.edu	37	chr20	44469671	44469671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccccctctggcccagacCgccccctgctgaccctggct	9	22	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:44469671C>T	uc002xpv.1	+	4	930	c.841C>T	c.(841-843)CGC>TGC	p.R281C	SNX21_uc002xps.1_Intron|SNX21_uc002xpt.1_3'UTR|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_Missense_Mutation_p.R92C|SNX21_uc002xpx.2_Missense_Mutation_p.R271C|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_Missense_Mutation_p.R92C|SNX21_uc002xpz.1_Missense_Mutation_p.R92C	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	sorting nexin 21 isoform a	281					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				TGGCCCAGACCGCCCCCTGCT	0.677													T	44469671	C	T	44469671	3	4	19	1	0	0	0	0	1	0	0	0	14893	652	23	1	870	1	SNX21	20	44469671	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	35714	44469671	18555849	3100	17399											
ZSWIM3	140831	broad.mit.edu	37	chr20	44506110	44506110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgctgcccgcatcctcCtttccatctaccacacaacc	3	20	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:44506110C>T	uc002xqd.2	+	2	1116	c.913C>T	c.(913-915)CTT>TTT	p.L305F	ZSWIM3_uc010zxg.1_Missense_Mutation_p.L299F	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	305							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				CCGCATCCTCCTTTCCATCTA	0.522													T	44506110	C	T	44506110	3	4	19	1	0	0	0	0	1	0	0	0	18239	681	24	4	919	4	ZSWIM3	20	44506110	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	36439	44506110	18519410	3101	17400											
ZNF335	63925	broad.mit.edu	37	chr20	44581059	44581059	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggctggagatgggggctcAgggccgtctctgggcagtcc	18	10	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:44581059A>G	uc002xqw.2	-	20	3039	c.2916T>C	c.(2914-2916)CCT>CCC	p.P972P	ZNF335_uc002xqv.2_Silent_p.P84P|ZNF335_uc010zxk.1_Silent_p.P817P	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	972					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				ATGGGGGCTCAGGGCCGTCTC	0.652													G	44581059	A	G	44581059	2	3	19	1	0	0	0	0	0	0	0	1	17849	175	7	3		3	ZNF335	20	44581059	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	74949	44581059	18444461	3102	17401											
ZNF335	63925	broad.mit.edu	37	chr20	44596988	44596988	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgccatcctcagcactggtCacagtgatgcagtctgggca	11	14	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:44596988C>T	uc002xqw.2	-	4	579	c.456G>A	c.(454-456)GTG>GTA	p.V152V	ZNF335_uc010zxk.1_Intron|ZNF335_uc002xqx.1_Silent_p.V120V|ZNF335_uc002xqy.2_5'UTR	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V152L(1)		skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				CAGCACTGGTCACAGTGATGC	0.642													T	44596988	C	T	44596988	2	4	19	1	0	0	0	0	0	0	0	1	17849	813	29	4		4	ZNF335	20	44596988	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	15929	44596988	18428532	3103	17402											
CDH22	64405	broad.mit.edu	37	chr20	44869722	44869722	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggctccagtaggcggttggTggcgcgatcccgagcctggg	19	11	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:44869722T>C	uc002xrm.2	-	2	831	c.430A>G	c.(430-432)ACC>GCC	p.T144A	CDH22_uc010ghk.1_Missense_Mutation_p.T144A	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	144	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				AGGCGGTTGGTGGCGCGATCC	0.617													C	44869722	T	C	44869722	3	2	19	1	0	0	0	0	1	0	0	0	3107	1696	59	3	2096	3	CDH22	20	44869722	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	272734	44869722	18155798	3104	17403											
ZNF334	55713	broad.mit.edu	37	chr20	45130649	45130649	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgagggctgatttcgtAcataaaaattttccacattg	8	7	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:45130649A>G	uc002xsc.2	-	5	1513	c.1329T>C	c.(1327-1329)TGT>TGC	p.C443C	ZNF334_uc002xsa.2_Silent_p.C466C|ZNF334_uc002xsb.2_Silent_p.C405C|ZNF334_uc002xsd.2_Silent_p.C405C|ZNF334_uc010ghl.2_Silent_p.C442C	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	443	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				CTGATTTCGTACATAAAAATT	0.383													G	45130649	A	G	45130649	2	3	19	1	0	0	0	0	0	0	0	1	17848	389	14	3		3	ZNF334	20	45130649	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	260927	45130649	17894871	3105	17404											
SLC2A10	81031	broad.mit.edu	37	chr20	45354435	45354435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccaacgtgctgtgctatGcctccaccatcttcagctcc	7	17	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:45354435G>A	uc002xsl.2	+	2	857	c.760G>A	c.(760-762)GCC>ACC	p.A254T		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	254	Helical; Name=7; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GCTGTGCTATGCCTCCACCAT	0.632													A	45354435	G	A	45354435	3	1	19	1	0	0	0	0	1	0	0	0	14539	1319	46	2	766	2	SLC2A10	20	45354435	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	223786	45354435	17671085	3106	17405											
NCOA3	8202	broad.mit.edu	37	chr20	46282157	46282157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttgctgacagaaatactGctgacatctctgcaccagga	10	10	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:46282157G>A	uc002xtk.2	+	23	4476	c.4271G>A	c.(4270-4272)TGC>TAC	p.C1424Y	NCOA3_uc002xtl.2_Missense_Mutation_p.C1420Y|NCOA3_uc002xtm.2_Missense_Mutation_p.C1419Y|NCOA3_uc002xtn.2_Missense_Mutation_p.C1423Y|NCOA3_uc010zyc.1_Missense_Mutation_p.C1219Y	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	1424					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						CAGAAATACTGCTGACATCTC	0.388													A	46282157	G	A	46282157	3	1	19	1	0	0	0	0	1	0	0	0	10230	1319	46	2	4383	2	NCOA3	20	46282157	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	927722	46282157	16743363	3107	17406											
PREX1	57580	broad.mit.edu	37	chr20	47307598	47307598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgttgtggatcttccagCcgttggtgacggtatagccg	14	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:47307598C>T	uc002xtw.1	-	9	1096	c.1073G>A	c.(1072-1074)GGC>GAC	p.G358D		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	358	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GATCTTCCAGCCGTTGGTGAC	0.577													T	47307598	C	T	47307598	3	4	19	1	0	0	0	0	1	0	0	0	12476	739	26	2	4034	2	PREX1	20	47307598	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1025441	47307598	15717922	3108	17407											
ZNFX1	57169	broad.mit.edu	37	chr20	47864756	47864756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctgttcattcatgtagCggtctagggcttgcacctca	9	12	5	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:47864756C>T	uc002xui.2	-	14	5052	c.4805G>A	c.(4804-4806)CGC>CAC	p.R1602H		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1602							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATTCATGTAGCGGTCTAGGGC	0.507													T	47864756	C	T	47864756	3	4	19	1	0	0	0	0	1	0	0	0	18202	768	27	1	955	1	ZNFX1	20	47864756	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	557158	47864756	15160764	3109	17408											
B4GALT5	9334	broad.mit.edu	37	chr20	48257180	48257180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caacgttgaaaagcatggctCgattaaagggttgggtacca	12	7	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:48257180C>T	uc002xuu.3	-	6	823	c.629G>A	c.(628-630)CGA>CAA	p.R210Q		NM_004776	NP_004767	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	210	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			AAGCATGGCTCGATTAAAGGG	0.393													T	48257180	C	T	48257180	3	4	19	1	0	0	0	0	1	0	0	0	1274	884	31	1	553	1	B4GALT5	20	48257180	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	392424	48257180	14768340	3110	17409											
SALL4	57167	broad.mit.edu	37	chr20	50400912	50400912	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactgatacccgactgggaGccatccatcttggagacagt	11	12	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:50400912G>A	uc002xwh.3	-	4	3155	c.3054C>T	c.(3052-3054)GGC>GGT	p.G1018G	SALL4_uc010gii.2_Silent_p.G581G|SALL4_uc002xwi.3_Silent_p.G241G	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	1018					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CCGACTGGGAGCCATCCATCT	0.537													A	50400912	G	A	50400912	2	1	19	1	0	0	0	0	0	0	0	1	13813	958	34	2		2	SALL4	20	50400912	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2143732	50400912	12624608	3111	17410											
SALL4	57167	broad.mit.edu	37	chr20	50406825	50406825	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggacccactttccctgGggcatctaaggaagccatca	11	13	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:50406825G>T	uc002xwh.3	-	2	2298	c.2197C>A	c.(2197-2199)CCA>ACA	p.P733T	SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	733					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						ACTTTCCCTGGGGCATCTAAG	0.607													T	50406825	G	T	50406825	3	4	19	1	0	0	0	0	1	0	0	0	13813	1232	43	5	976	5	SALL4	20	50406825	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	5913	50406825	12618695	3112	17411											
ZNF217	7764	broad.mit.edu	37	chr20	52199045	52199045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacttgacttttatcaagCggactgagatactctgcttc	8	11	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:52199045C>T	uc002xwq.3	-	1	592	c.321G>A	c.(319-321)CCG>CCA	p.P107P	ZNF217_uc010gij.1_Silent_p.P99P	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	107					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TTTTATCAAGCGGACTGAGAT	0.438													T	52199045	C	T	52199045	2	4	19	1	0	0	0	0	0	0	0	1	17769	755	27	1		1	ZNF217	20	52199045	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1792220	52199045	10826475	3113	17412											
BCAS1	8537	broad.mit.edu	37	chr20	52645321	52645321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccaagggatgaatctgcGgcttggtctccggtacgtcc	13	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:52645321G>A	uc002xws.2	-	4	671	c.333C>T	c.(331-333)GCC>GCT	p.A111A	BCAS1_uc010zzb.1_Silent_p.A14A|BCAS1_uc010gim.2_Silent_p.A14A|BCAS1_uc002xwt.2_Silent_p.A111A|BCAS1_uc010gil.1_Silent_p.A111A|BCAS1_uc010zzc.1_Silent_p.A14A	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	111						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			ATGAATCTGCGGCTTGGTCTC	0.527													A	52645321	G	A	52645321	2	1	19	1	0	0	0	0	0	0	0	1	1350	1103	39	1		1	BCAS1	20	52645321	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	446276	52645321	10380199	3114	17413											
PMEPA1	56937	broad.mit.edu	37	chr20	56227177	56227178	+	Frame_Shift_Del	DEL	TG	TG	-													tgcgctctctaggggcgcgaTgtgtgtgtggtggagccggg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:56227177_56227178delTG	uc002xyq.2	-	4	1188_1189	c.795_796delCA	c.(793-798)CACATCfs	p.H265fs	PMEPA1_uc002xyr.2_Frame_Shift_Del_p.H215fs|PMEPA1_uc002xys.2_Frame_Shift_Del_p.H230fs|PMEPA1_uc002xyt.2_Frame_Shift_Del_p.H215fs	NM_020182	NP_064567	Q969W9	PMEPA_HUMAN	transmembrane prostate androgen-induced protein	265_266	Cytoplasmic (Potential).				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			pancreas(1)	1						AGGGGCGCGATGTGTGTGTGGT	0.653													-	56227178	TG	-	56227177	7	5	19	1	0	1	0	1	0	0	0	0	12132	1464	51	0	71	0	PMEPA1	20	56227177	Frame_Shift_Del	DEL	TG	TCGA-BR-4361-01A-01D-1158-08	3581856	56227177	6798343	3115	17414											
C20orf85	128602	broad.mit.edu	37	chr20	56735847	56735847	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaggtgcttttgcacgagAgctgtgctggcccaagcagg	14	10	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:56735847A>C	uc002xyv.2	+	4	421	c.383A>C	c.(382-384)GAG>GCG	p.E128A		NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	hypothetical protein LOC128602	128										ovary(1)	1	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			TTTGCACGAGAGCTGTGCTGG	0.602													C	56735847	A	C	56735847	3	2	19	1	0	0	0	0	1	0	0	0	2120	304	11	5	397	5	C20orf85	20	56735847	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	508670	56735847	6289673	3116	17415											
ZNF831	128611	broad.mit.edu	37	chr20	57766421	57766421	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcccctacgctgacggtgaAcatcgtgggcactctgcctg	13	14	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:57766421A>G	uc002yan.2	+	1	347	c.347A>G	c.(346-348)AAC>AGC	p.N116S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	116						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CTGACGGTGAACATCGTGGGC	0.687													G	57766421	A	G	57766421	3	3	19	1	0	0	0	0	1	0	0	0	18182	43	2	3	349	3	ZNF831	20	57766421	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1030574	57766421	5259099	3117	17416											
SYCP2	10388	broad.mit.edu	37	chr20	58456998	58456998	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatcttggtattttagcttActccaagttttatgataggg	9	5	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:58456998A>G	uc002yaz.2	-	27	2797	c.2658_splice	c.e27+1	p.G886_splice		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2						cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATTTTAGCTTACTCCAAGTTT	0.308													G	58456998	A	G	58456998	5	3	19	1	0	0	0	0	0	0	1	0	15429	405	14	3	2004	3	SYCP2	20	58456998	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	690577	58456998	4568522	3118	17417											
SYCP2	10388	broad.mit.edu	37	chr20	58482429	58482429	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttaataccttcaatgctGtatatttgtactttttcctc	4	8	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:58482429G>A	uc002yaz.2	-	14	1162	c.1023C>T	c.(1021-1023)TAC>TAT	p.Y341Y	SYCP2_uc010gju.1_Silent_p.Y242Y	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	341					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTTCAATGCTGTATATTTGTA	0.294													A	58482429	G	A	58482429	2	1	19	1	0	0	0	0	0	0	0	1	15429	1372	48	4		4	SYCP2	20	58482429	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	25431	58482429	4543091	3119	17418											
SS18L1	26039	broad.mit.edu	37	chr20	60747835	60747835	+	Frame_Shift_Del	DEL	C	C	-													taccccagccagcagagctaCcccgggcagcagcagggcta							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:60747834_60747834AC>A	uc011aaa.1	+	8	1068	c.1013_1013AC>A	c.(1012-1014)tacfs	p.Y338fs	SS18L1_uc002ybz.1_Non-coding_Transcript|SS18L1_uc002yca.1_Non-coding_Transcript|SS18L1_uc002ycb.3_Frame_Shift_Del_p.Y338fs|SS18L1_uc002ycc.1_Non-coding_Transcript	NM_198935	NP_945173	O75177	CREST_HUMAN	Homo sapiens synovial sarcoma translocation gene on chromosome 18-like 1 (SS18L1), mRNA.	338	Gln-rich.|Necessary for nuclear localization (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CAGCAGAGCTACCCCGGGCAG	0.687			T	SSX1	synovial sarcoma								-	60747835	C	-	60747835	7	5	19	1	0	1	0	1	0	0	0	0	15175	518	18	0	1048	0	SS18L1	20	60747835	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	2265406	60747835	2277685	3120	17419											
ADRM1	11047	broad.mit.edu	37	chr20	60883759	60883759	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacaacgccaagcccgagcAgaaagagggcgacacgaagg	14	11	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:60883759A>G	uc002ycn.2	+	10	1246	c.1166A>G	c.(1165-1167)CAG>CGG	p.Q389R	ADRM1_uc002yco.2_Missense_Mutation_p.Q389R	NM_007002	NP_008933	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1 precursor	389	Interaction with UCHL5.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding				0	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			AAGCCCGAGCAGAAAGAGGGC	0.572													G	60883759	A	G	60883759	3	3	19	1	0	0	0	0	1	0	0	0	345	188	7	3	1200	3	ADRM1	20	60883759	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	135924	60883759	2141761	3121	17420											
LAMA5	3911	broad.mit.edu	37	chr20	60889901	60889901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgagctctcgcacgcggCcaatgctggcggacagggcc	14	14	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:60889901C>T	uc002ycq.2	-	60	8217	c.8150G>A	c.(8149-8151)GGC>GAC	p.G2717D		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2717	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCGCACGCGGCCAATGCTGGC	0.672													T	60889901	C	T	60889901	3	4	19	1	0	0	0	0	1	0	0	0	8609	739	26	2	3021	2	LAMA5	20	60889901	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	6142	60889901	2135619	3122	17421											
LAMA5	3911	broad.mit.edu	37	chr20	60903407	60903407	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtggcagccaaaggtctgGggctggcacagcaggcagtc	18	10	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:60903407G>T	uc002ycq.2	-	35	4609	c.4542C>A	c.(4540-4542)CCC>CCA	p.P1514P		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1514	Laminin EGF-like 13.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAAGGTCTGGGGCTGGCACA	0.672													T	60903407	G	T	60903407	2	4	19	1	0	0	0	0	0	0	0	1	8609	1219	43	5		5	LAMA5	20	60903407	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	13506	60903407	2122113	3123	17422											
DIDO1	11083	broad.mit.edu	37	chr20	61512074	61512074	+	Frame_Shift_Del	DEL	C	C	-													cctgaaacgggggctgagagCcccccactttctgtcctggt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:61512073_61512073GC>G	uc002ydr.2	-	15	5547	c.5235_5235GC>C	c.(5233-5235)ggcfs	p.G1745fs	DIDO1_uc002yds.2_Frame_Shift_Del_p.G1745fs	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1745	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGGGCTGAGAGCCCCCCACTT	0.682													-	61512074	C	-	61512074	7	5	19	1	0	1	0	1	0	0	0	0	4522	739	26	0	1492	0	DIDO1	20	61512074	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	608667	61512074	1513446	3124	17423											
DIDO1	11083	broad.mit.edu	37	chr20	61525797	61525797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacagttgagatcgaagaggTgtgcgcggtgctgactggtg	17	6	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:61525797T>C	uc002ydr.1	-	11	2804	c.2540A>G	c.(2539-2541)CAC>CGC	p.H847R	DIDO1_uc002yds.1_Missense_Mutation_p.H847R|DIDO1_uc002ydt.1_Missense_Mutation_p.H847R|DIDO1_uc002ydu.1_Missense_Mutation_p.H847R	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	847					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					ATCGAAGAGGTGTGCGCGGTG	0.507													C	61525797	T	C	61525797	3	2	19	1	0	0	0	0	1	0	0	0	4522	1696	59	3	4235	3	DIDO1	20	61525797	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	13723	61525797	1499723	3125	17424											
DIDO1	11083	broad.mit.edu	37	chr20	61542719	61542719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctcctcctgccgcggcgCcgcgcaatggtcaggaactg	13	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:61542719C>T	uc002ydr.1	-	3	510	c.246G>A	c.(244-246)CGG>CGA	p.R82R	DIDO1_uc002yds.1_Silent_p.R82R|DIDO1_uc002ydt.1_Silent_p.R82R|DIDO1_uc002ydu.1_Silent_p.R82R|DIDO1_uc002ydv.1_Silent_p.R82R|DIDO1_uc002ydw.1_Silent_p.R82R|DIDO1_uc002ydx.1_Silent_p.R82R|DIDO1_uc011aao.1_Silent_p.R82R	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	82					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					TGCCGCGGCGCCGCGCAATGG	0.711													T	61542719	C	T	61542719	2	4	19	1	0	0	0	0	0	0	0	1	4522	726	26	2		2	DIDO1	20	61542719	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	16922	61542719	1482801	3126	17425											
YTHDF1	54915	broad.mit.edu	37	chr20	61835087	61835087	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacggagcctcattgagggAgtaaggaaatccaatggacg	13	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:61835087A>G	uc002yeh.2	-	4	499	c.205T>C	c.(205-207)TCC>CCC	p.S69P	YTHDF1_uc011aaq.1_Missense_Mutation_p.S19P	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	69										ovary(2)	2						TCATTGAGGGAGTAAGGAAAT	0.517													G	61835087	A	G	61835087	3	3	19	1	0	0	0	0	1	0	0	0	17495	304	11	3	1482	3	YTHDF1	20	61835087	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	292368	61835087	1190433	3127	17426											
ARFRP1	10139	broad.mit.edu	37	chr20	62331872	62331872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccactcgatgccctcgcGcacccctttgctgtgaagac	8	17	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:62331872G>A	uc002yga.2	-	7	1096	c.529C>T	c.(529-531)CGC>TGC	p.R177C	ARFRP1_uc002ygc.2_Missense_Mutation_p.R177C|ARFRP1_uc002ygh.3_3'UTR|ARFRP1_uc011abf.1_3'UTR|ARFRP1_uc011abg.1_3'UTR|ARFRP1_uc002yge.2_RNA|ARFRP1_uc002ygd.2_RNA|ARFRP1_uc002ygf.2_Missense_Mutation_p.R177C|ARFRP1_uc002ygg.2_RNA|ARFRP1_uc011abh.1_RNA	NM_003224	NP_003215	Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	177					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|skin(1)	2	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			ATGCCCTCGCGCACCCCTTTG	0.697													A	62331872	G	A	62331872	3	1	19	1	0	0	0	0	1	0	0	0	856	1087	38	1	80	1	ARFRP1	20	62331872	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	496785	62331872	693648	3128	17427											
TPTE	7179	broad.mit.edu	37	chr21	10942922	10942922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgttttgcccacttaccCgccttcttatcagcttttca	5	14	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:10942922C>T	uc002yip.1	-	12	1033	c.665G>A	c.(664-666)CGG>CAG	p.R222Q	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.R204Q|TPTE_uc002yir.1_Missense_Mutation_p.R184Q|TPTE_uc010gkv.1_Missense_Mutation_p.R84Q	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	222					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCCACTTACCCGCCTTCTTAT	0.318													T	10942922	C	T	10942922	3	4	19	1	0	0	0	0	1	0	0	0	16427	666	23	1	1042	1	TPTE	21	10942922	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08		10942922	37186973	3129	17428											
TPTE	7179	broad.mit.edu	37	chr21	10942995	10942995	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttaacagaataataagtcGtagaagtcgaagtaaatgtg	9	4	1	2	rs147014138	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:10942995G>A	uc002yip.1	-	12	960	c.592C>T	c.(592-594)CGA>TGA	p.R198*	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Nonsense_Mutation_p.R180*|TPTE_uc002yir.1_Nonsense_Mutation_p.R160*|TPTE_uc010gkv.1_Nonsense_Mutation_p.R60*	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	198					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATAATAAGTCGTAGAAGTCGA	0.299													A	10942995	G	A	10942995	4	1	19	1	0	0	0	0	0	1	0	0	16427	1153	40	1	1115	1	TPTE	21	10942995	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	73	10942995	37186900	3130	17429											
TMPRSS15	5651	broad.mit.edu	37	chr21	19775802	19775802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtgacttacctcgttgGgattccttgattgtcaggca	10	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:19775802G>A	uc002ykw.2	-	1	169	c.138C>T	c.(136-138)TCC>TCT	p.S46S		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	46	Helical; Signal-anchor for type II membrane protein; (Potential).				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						TACCTCGTTGGGATTCCTTGA	0.433													A	19775802	G	A	19775802	2	1	19	1	0	0	0	0	0	0	0	1	16243	1219	43	4		4	TMPRSS15	21	19775802	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	8832807	19775802	28354093	3131	17430											
MRPL39	54148	broad.mit.edu	37	chr21	26965134	26965134	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttacttactcttaagtgaAcaggtaaagacacgccctgg	8	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:26965134A>G	uc002ylo.2	-	8	925	c.911T>C	c.(910-912)GTT>GCT	p.V304A	MRPL39_uc002yln.2_Missense_Mutation_p.V304A	NM_017446	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39 isoform a	304						mitochondrial ribosome	nucleotide binding				0						TCTTAAGTGAACAGGTAAAGA	0.368													G	26965134	A	G	26965134	3	3	19	1	0	0	0	0	1	0	0	0	9802	43	2	3	210	3	MRPL39	21	26965134	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	7189332	26965134	21164761	3132	17431											
ADAMTS5	11096	broad.mit.edu	37	chr21	28306946	28306946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagcacagacatccatgcCgggacacacggagtactcag	12	13	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:28306946C>T	uc002ymg.2	-	4	2257	c.1528G>A	c.(1528-1530)GGC>AGC	p.G510S		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	510	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						ACATCCATGCCGGGACACACG	0.612													T	28306946	C	T	28306946	3	4	19	1	0	0	0	0	1	0	0	0	269	652	23	1	1284	1	ADAMTS5	21	28306946	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1341812	28306946	19822949	3133	17432											
USP16	10600	broad.mit.edu	37	chr21	30414846	30414846	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccctcccagttttagatgaTcaggtaagactattgaattt	7	8	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:30414846T>C	uc002ymy.2	+	12	1378	c.1176T>C	c.(1174-1176)GAT>GAC	p.D392D	USP16_uc002ymx.2_Silent_p.D391D|USP16_uc002ymw.2_Silent_p.D392D|USP16_uc011acm.1_Silent_p.D377D|USP16_uc011acn.1_Silent_p.D58D|USP16_uc011aco.1_Silent_p.D82D	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	ubiquitin specific protease 16 isoform a	392					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(2)|breast(1)|pancreas(1)	4						TTTTAGATGATCAGGTAAGAC	0.318													C	30414846	T	C	30414846	2	2	19	1	0	0	0	0	0	0	0	1	17044	1432	50	3		3	USP16	21	30414846	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2107900	30414846	17715049	3134	17433											
CCT8	10694	broad.mit.edu	37	chr21	30432959	30432959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaataccagcttccagcatgTcctttacagcagggacttca	8	12	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:30432959T>C	uc002ynb.2	-	14	1571	c.1472A>G	c.(1471-1473)GAC>GGC	p.D491G	CCT8_uc002ymz.2_Missense_Mutation_p.D107G|CCT8_uc011acp.1_Missense_Mutation_p.D472G|CCT8_uc002yna.2_Missense_Mutation_p.D440G|CCT8_uc002ync.2_Missense_Mutation_p.D490G|CCT8_uc010glm.2_Missense_Mutation_p.D432G|CCT8_uc011acq.1_Missense_Mutation_p.D418G	NM_006585	NP_006576	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	491					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding				0						TTCCAGCATGTCCTTTACAGC	0.398													C	30432959	T	C	30432959	3	2	19	1	0	0	0	0	1	0	0	0	2960	1667	58	3	182	3	CCT8	21	30432959	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	18113	30432959	17696936	3135	17434											
CCT8	10694	broad.mit.edu	37	chr21	30439211	30439211	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttactgatatttacttaCcgcatgcctgagcaataagc	6	10	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:30439211C>T	uc002ynb.2	-	5	661	c.562_splice	c.e5+1	p.V188_splice	CCT8_uc011acp.1_Splice_Site_p.V169_splice|CCT8_uc002yna.2_Splice_Site_p.V137_splice|CCT8_uc002ync.2_Splice_Site_p.V187_splice|CCT8_uc010glm.2_Intron|CCT8_uc011acq.1_Splice_Site_p.V115_splice	NM_006585	NP_006576	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)						'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding				0						TATTTACTTACCGCATGCCTG	0.333													T	30439211	C	T	30439211	5	4	19	1	0	0	0	0	0	0	1	0	2960	521	18	4	1127	4	CCT8	21	30439211	Splice_Site	SNP	C	TCGA-BR-4361-01A-01D-1158-08	6252	30439211	17690684	3136	17435											
BACH1	571	broad.mit.edu	37	chr21	30693751	30693751	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggttccgcgctcaccggtcCgtgctggcggcatgcagcag	15	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:30693751C>T	uc002ynj.2	+	2	265	c.150C>T	c.(148-150)TCC>TCT	p.S50S	BACH1_uc002ynk.2_Silent_p.S50S|BACH1_uc002ynl.2_RNA	NM_001186	NP_001177	O14867	BACH1_HUMAN	BTB and CNC homology 1 transcription factor	50	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|liver(1)	2						CTCACCGGTCCGTGCTGGCGG	0.527													T	30693751	C	T	30693751	2	4	19	1	0	0	0	0	0	0	0	1	1283	639	23	1		1	BACH1	21	30693751	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	254540	30693751	17436144	3137	17436											
KRTAP19-7	337974	broad.mit.edu	37	chr21	31933570	31933570	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgaatcctccacagccGtagcctaggcctccatagta	7	17	0	0	rs142979058	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:31933570G>A	uc011adb.1	-	1	39	c.39C>T	c.(37-39)TAC>TAT	p.Y13Y		NM_181614	NP_853645	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	13						intermediate filament					0						CTCCACAGCCGTAGCCTAGGC	0.537													A	31933570	G	A	31933570	2	1	19	1	0	0	0	0	0	0	0	1	8534	1140	40	1		1	KRTAP19-7	21	31933570	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1239819	31933570	16196325	3138	17437											
TIAM1	7074	broad.mit.edu	37	chr21	32638371	32638371	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgctgttgctatggctAatttgtgggttggtggcacc	14	7	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:32638371A>G	uc002yow.1	-	5	1390	c.918T>C	c.(916-918)ATT>ATC	p.I306I	TIAM1_uc011adk.1_Silent_p.I306I|TIAM1_uc011adl.1_Silent_p.I306I|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	306					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TGCTATGGCTAATTTGTGGGT	0.428													G	32638371	A	G	32638371	2	3	19	1	0	0	0	0	0	0	0	1	15887	358	13	3		3	TIAM1	21	32638371	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	704801	32638371	15491524	3139	17438											
C21orf59	56683	broad.mit.edu	37	chr21	33954534	33954534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgcgattcttgccccgcGtgtggggacgctgcagattt	15	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:33954534G>A	uc002ypy.1	-	7	1067	c.954C>T	c.(952-954)CAC>CAT	p.H318H	TCP10L_uc002ypw.3_Silent_p.H112H|C21orf59_uc002ypx.1_Silent_p.H135H|C21orf59_uc002ypz.1_Silent_p.H286H	NM_021254	NP_067077	P57076	CU059_HUMAN	hypothetical protein LOC56683	Error:Variant_position_missing_in_P57076_after_alignment						cytosol|nucleus					0						CTTGCCCCGCGTGTGGGGACG	0.498													A	33954534	G	A	33954534	2	1	19	1	0	0	0	0	0	0	0	1	2130	1136	40	1		1	C21orf59	21	33954534	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1316163	33954534	14175361	3140	17439											
OLIG2	10215	broad.mit.edu	37	chr21	34399391	34399391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaagctaggaggcagtgGcttcaagtcatcctcgtcca	12	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:34399391G>A	uc002yqx.1	+	2	379	c.221G>A	c.(220-222)GGC>GAC	p.G74D		NM_005806	NP_005797	Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	74						cytoplasm|nucleus|plasma membrane	DNA binding			central_nervous_system(2)	2						GGAGGCAGTGGCTTCAAGTCA	0.657			T	TRA@	T-ALL								A	34399391	G	A	34399391	3	1	19	1	0	0	0	0	1	0	0	0	10861	1203	42	2	223	2	OLIG2	21	34399391	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	444857	34399391	13730504	3141	17440											
IFNAR2	3455	broad.mit.edu	37	chr21	34635727	34635727	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcttcagagggcctgtgGtccgaagatgctccatctga	11	13	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:34635727G>A	uc002yrd.2	+	9	1798	c.1470G>A	c.(1468-1470)TGG>TGA	p.W490*	IFNAR2_uc002yre.2_Nonsense_Mutation_p.W490*|IFNAR2_uc002yrf.2_3'UTR|IL10RB_uc002yrh.1_Intron|IL10RB_uc002yri.1_Intron|IL10RB_uc002yrk.1_5'Flank	NM_207585	NP_997468	P48551	INAR2_HUMAN	interferon alpha/beta receptor 2 isoform a	490	Cytoplasmic (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity				0					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AGGGCCTGTGGTCCGAAGATG	0.483													A	34635727	G	A	34635727	4	1	19	1	0	0	0	0	0	1	0	0	7545	1270	44	4	1660	4	IFNAR2	21	34635727	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	236336	34635727	13494168	3142	17441											
IFNAR1	3454	broad.mit.edu	37	chr21	34725143	34725143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattgtgtgaaagccagagCacacaccatggatgaaaagc	10	8	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:34725143C>T	uc002yrn.2	+	9	1370	c.1223C>T	c.(1222-1224)GCA>GTA	p.A408V	IFNAR1_uc011adv.1_Missense_Mutation_p.A339V	NM_000629	NP_000620	P17181	INAR1_HUMAN	interferon-alpha receptor 1 precursor	408	Fibronectin type-III 3.|Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			central_nervous_system(1)|skin(1)	2					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AAAGCCAGAGCACACACCATG	0.313													T	34725143	C	T	34725143	3	4	19	1	0	0	0	0	1	0	0	0	7544	710	25	2	1257	2	IFNAR1	21	34725143	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	89416	34725143	13404752	3143	17442											
SON	6651	broad.mit.edu	37	chr21	34924576	34924576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttccatgatgtcatcttaCgaacgctctatgatgtctta	7	10	4	2	rs150871748		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:34924576C>T	uc002yse.1	+	3	3088	c.3039C>T	c.(3037-3039)TAC>TAT	p.Y1013Y	SON_uc002ysb.1_Silent_p.Y1013Y|SON_uc002ysc.2_Silent_p.Y1013Y|SON_uc002ysd.2_Silent_p.Y4Y|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Silent_p.Y4Y	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1013	14 X 6 AA repeats of [ED]-R-S-M-M-S.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						TGTCATCTTACGAACGCTCTA	0.488													T	34924576	C	T	34924576	2	4	19	1	0	0	0	0	0	0	0	1	14926	547	19	1		1	SON	21	34924576	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	199433	34924576	13205319	3144	17443											
ITSN1	6453	broad.mit.edu	37	chr21	35169909	35169909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggcaccctggtccactGcaggtattagaagccaaaaa	9	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:35169909G>A	uc002yta.1	+	18	2447	c.2179G>A	c.(2179-2181)GCA>ACA	p.A727T	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.A727T|ITSN1_uc010gmg.2_Missense_Mutation_p.A690T|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.A727T|ITSN1_uc010gmi.2_Missense_Mutation_p.A690T|ITSN1_uc010gmj.2_Missense_Mutation_p.A611T|ITSN1_uc002ysy.2_Missense_Mutation_p.A727T|ITSN1_uc002ysx.2_Missense_Mutation_p.A690T|ITSN1_uc002ytb.1_Missense_Mutation_p.A727T|ITSN1_uc002ytc.1_Missense_Mutation_p.A727T|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.A690T|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.A727T|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.A661T	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	727					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						CTGGTCCACTGCAGGTATTAG	0.473													A	35169909	G	A	35169909	3	1	19	1	0	0	0	0	1	0	0	0	7926	1319	46	2	2245	2	ITSN1	21	35169909	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	245333	35169909	12959986	3145	17444											
CLIC6	54102	broad.mit.edu	37	chr21	36081075	36081076	+	Frame_Shift_Ins	INS	-	-	A													gccaaattctcagcgtttatINSaaaaaacacgaagaaggatg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:36081075_36081076insA	uc010gmt.1	+	5	1742_1743	c.1742_1743insA	c.(1741-1743)ATAfs	p.I581fs	CLIC6_uc002yuf.1_Frame_Shift_Ins_p.I563fs	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	581	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			ovary(1)|central_nervous_system(1)	2						TCAGCGTTTATAAAAAACACGA	0.455													A	36081076	-	A	36081075	7	5	19	1	0	1	1	0	0	0	0	0	3530	1406	49	0	1702	0	CLIC6	21	36081075	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	911166	36081075	12048820	3146	17445	59	2									
CLIC6	54102	broad.mit.edu	37	chr21	36081076	36081077	+	Frame_Shift_Ins	INS	-	-	A													ccaaattctcagcgtttataINSaaaaacacgaagaaggatgc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:36081075_36081076T>TA	uc010gmt.1	+	4	1742_1743	c.1742_1743T>TA	c.(1741-1743)atafs	p.I581fs	CLIC6_uc002yuf.1_Frame_Shift_Ins_p.I563fs	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	Homo sapiens chloride intracellular channel 6 (CLIC6), nuclear gene encoding mitochondrial protein, mRNA.	581	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TCAGCGTTTATAAAAAACACGA	0.455													A	36081077	-	A	36081076	7	5	19	1	0	1	1	0	0	0	0	0	3530	352	13	0	1703	0	CLIC6	21	36081076	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	1	36081076	12048819	3147	17446	59	2									
CBR3	874	broad.mit.edu	37	chr21	37507764	37507764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtactggtcaacaacgcgGccgtcgccttcaagagtagg	12	12	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:37507764G>A	uc002yve.2	+	1	502	c.274G>A	c.(274-276)GCC>ACC	p.A92T	uc002yvc.1_Intron|uc002yvd.1_Intron	NM_001236	NP_001227	O75828	CBR3_HUMAN	carbonyl reductase 3	92						cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding				0						CAACAACGCGGCCGTCGCCTT	0.667													A	37507764	G	A	37507764	3	1	19	1	0	0	0	0	1	0	0	0	2709	1203	42	2	276	2	CBR3	21	37507764	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1426688	37507764	10622131	3148	17447											
DOPEY2	9980	broad.mit.edu	37	chr21	37650357	37650358	+	Frame_Shift_Ins	INS	-	-	T													ctcccgtctgctttactatgINStttttccatacttacgcaac							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:37650357_37650358insT	uc002yvg.2	+	29	5876_5877	c.5797_5798insT	c.(5797-5799)GTTfs	p.V1933fs	DOPEY2_uc011aeb.1_Frame_Shift_Ins_p.V1882fs	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1933					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						GCTTTACTATGTTTTTCCATAC	0.426													T	37650358	-	T	37650357	7	5	19	1	0	1	1	0	0	0	0	0	4708	1377	48	0	5907	0	DOPEY2	21	37650357	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	142593	37650357	10479538	3149	17448	60	2									
DOPEY2	9980	broad.mit.edu	37	chr21	37650358	37650359	+	Frame_Shift_Ins	INS	-	-	T													tcccgtctgctttactatgtINSttttccatacttacgcaacc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:37650357_37650358G>GT	uc002yvg.3	+	28	5876_5877	c.5797_5798G>GT	c.(5797-5799)gttfs	p.V1933fs	DOPEY2_uc011aeb.2_Frame_Shift_Ins_p.V1882fs	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1933					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCTTTACTATGTTTTTCCATAC	0.426													T	37650359	-	T	37650358	7	5	19	1	0	1	1	0	0	0	0	0	4708	1725	60	0	5908	0	DOPEY2	21	37650358	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	1	37650358	10479537	3150	17449	60	2									
MORC3	23515	broad.mit.edu	37	chr21	37710133	37710133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgggtaaagacgcaatcGtttttaccaaaaatggagaa	10	6	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:37710133G>A	uc002yvi.2	+	4	425	c.349G>A	c.(349-351)GTT>ATT	p.V117I		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	117					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						AGACGCAATCGTTTTTACCAA	0.448													A	37710133	G	A	37710133	3	1	19	1	0	0	0	0	1	0	0	0	9703	1145	40	1	363	1	MORC3	21	37710133	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	59775	37710133	10419762	3151	17450											
CHAF1B	8208	broad.mit.edu	37	chr21	37759988	37759988	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagccgtcaatgttgtgcgTttttctccaactggggaaat	10	8	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:37759988T>C	uc002yvj.2	+	3	357	c.219T>C	c.(217-219)CGT>CGC	p.R73R		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	chromatin assembly factor 1 subunit B	73	WD 2.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			ovary(1)|skin(1)	2						ATGTTGTGCGTTTTTCTCCAA	0.448													C	37759988	T	C	37759988	2	2	19	1	0	0	0	0	0	0	0	1	3312	1712	60	3		3	CHAF1B	21	37759988	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	49855	37759988	10369907	3152	17451											
TTC3	7267	broad.mit.edu	37	chr21	38529006	38529006	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttatggagcatctcttaaActgcttgattttagtatcat	7	7	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:38529006A>C	uc002yvz.2	+	28	2895	c.2790A>C	c.(2788-2790)AAA>AAC	p.K930N	TTC3_uc011aee.1_Missense_Mutation_p.K620N|TTC3_uc002ywa.2_Missense_Mutation_p.K930N|TTC3_uc002ywb.2_Missense_Mutation_p.K930N|TTC3_uc010gnf.2_Missense_Mutation_p.K695N|TTC3_uc002ywc.2_Missense_Mutation_p.K620N|TTC3_uc002ywd.1_5'UTR	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	930					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				CATCTCTTAAACTGCTTGATT	0.363													C	38529006	A	C	38529006	3	2	19	1	0	0	0	0	1	0	0	0	16694	40	2	5	2896	5	TTC3	21	38529006	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	769018	38529006	9600889	3153	17452											
DYRK1A	1859	broad.mit.edu	37	chr21	38845110	38845110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtacagtgaccgtcgccaGccaaacataagtgaccaaca	8	13	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:38845110G>A	uc002ywk.2	+	2	210	c.135G>A	c.(133-135)CAG>CAA	p.Q45Q	DYRK1A_uc002ywg.1_RNA|DYRK1A_uc010gno.1_RNA|DYRK1A_uc002ywh.1_Silent_p.Q16Q|DYRK1A_uc002ywi.2_Silent_p.Q45Q|DYRK1A_uc002ywj.2_Silent_p.Q45Q|DYRK1A_uc002ywl.2_Silent_p.Q45Q|DYRK1A_uc002ywm.2_Silent_p.Q45Q	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	45					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			ovary(2)|lung(1)|breast(1)	4						ACCGTCGCCAGCCAAACATAA	0.468													A	38845110	G	A	38845110	2	1	19	1	0	0	0	0	0	0	0	1	4854	962	34	2		2	DYRK1A	21	38845110	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	316104	38845110	9284785	3154	17453											
KCNJ6	3763	broad.mit.edu	37	chr21	39087116	39087116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtctccccgtatgtatGcgatcaaccaccagatcatt	6	14	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:39087116G>A	uc011aej.1	-	3	397	c.344C>T	c.(343-345)GCA>GTA	p.A115V	KCNJ6_uc002ywo.2_Missense_Mutation_p.A115V	NM_002240	NP_002231	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel J6	115	Extracellular (By similarity).				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1					Halothane(DB01159)	CCGTATGTATGCGATCAACCA	0.453													A	39087116	G	A	39087116	3	1	19	1	0	0	0	0	1	0	0	0	8055	1319	46	2	935	2	KCNJ6	21	39087116	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	242006	39087116	9042779	3155	17454											
DSCR4	10281	broad.mit.edu	37	chr21	39427042	39427042	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agttggtatttccaaatcagAcattttgcccaaaattgctg	7	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:39427042A>T	uc002ywp.2	-	3	369	c.264T>A	c.(262-264)TGT>TGA	p.C88*		NM_005867	NP_005858	P56555	DSCR4_HUMAN	Down syndrome critical region protein 4	88										ovary(1)	1						TCCAAATCAGACATTTTGCCC	0.438													T	39427042	A	T	39427042	4	4	19	1	0	0	0	0	0	1	0	0	4772	273	10	5	96	5	DSCR4	21	39427042	Nonsense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	339926	39427042	8702853	3156	17455											
ERG	2078	broad.mit.edu	37	chr21	39755781	39755781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccttcccaggtgatgcaGctggagttggagctgtccga	15	10	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:39755781G>A	uc010gnw.2	-	12	1300	c.1005C>T	c.(1003-1005)AGC>AGT	p.S335S	ERG_uc002yxa.2_Silent_p.S328S|ERG_uc011aek.1_Silent_p.S236S|ERG_uc010gnv.2_Silent_p.S212S|ERG_uc010gnx.2_Silent_p.S311S|ERG_uc011ael.1_Silent_p.S335S|ERG_uc002yxb.2_Silent_p.S311S	NM_001136155	NP_001129627	P11308	ERG_HUMAN	ets-related isoform 4	335	ETS.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828		Prostate(19;3.6e-06)				AGGTGATGCAGCTGGAGTTGG	0.587													A	39755781	G	A	39755781	2	1	19	1	0	0	0	0	0	0	0	1	5222	962	34	2		2	ERG	21	39755781	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	328739	39755781	8374114	3157	17456											
RIPK4	54101	broad.mit.edu	37	chr21	43161435	43161435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcggccacgtgcagggGtgtctgtgccagcaggctgc	16	14	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:43161435G>A	uc002yzn.1	-	8	1966	c.1918C>T	c.(1918-1920)CCC>TCC	p.P640S		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	640						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						ACGTGCAGGGGTGTCTGTGCC	0.692													A	43161435	G	A	43161435	3	1	19	1	0	0	0	0	1	0	0	0	13383	1261	44	4	440	4	RIPK4	21	43161435	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3405654	43161435	4968460	3158	17457											
C2CD2	25966	broad.mit.edu	37	chr21	43342131	43342131	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtacagccggcatccagcacCcaaggcaggcgtctcgctga	12	15	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:43342131C>A	uc002yzw.2	-	3	684	c.442G>T	c.(442-444)GGT>TGT	p.G148C	C2CD2_uc002yzu.2_5'Flank|C2CD2_uc002yzv.2_5'UTR|C2CD2_uc002yzx.1_5'UTR	NM_015500	NP_056315	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2 isoform	148						cytosol|extracellular region|nucleus				ovary(1)	1						CATCCAGCACCCAAGGCAGGC	0.537													A	43342131	C	A	43342131	3	1	19	1	0	0	0	0	1	0	0	0	2152	623	22	5	1696	5	C2CD2	21	43342131	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	180696	43342131	4787764	3159	17458											
ZNF295	49854	broad.mit.edu	37	chr21	43414117	43414117	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacaatcagcagcacatcacAcagctgtcctttgagacgct	7	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:43414117A>T	uc002zab.3	-	3	302	c.88T>A	c.(88-90)TGT>AGT	p.C30S	ZNF295_uc002yzz.3_Missense_Mutation_p.C30S|ZNF295_uc002yzy.3_Missense_Mutation_p.C30S|ZNF295_uc002zaa.3_Missense_Mutation_p.C30S|ZNF295_uc010gov.1_Missense_Mutation_p.C30S|ZNF295_uc002zac.2_Missense_Mutation_p.C30S	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	30	Mediates homodimerization.|BTB.				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						AGCACATCACACAGCTGTCCT	0.458													T	43414117	A	T	43414117	3	4	19	1	0	0	0	0	1	0	0	0	17824	159	6	5	3116	5	ZNF295	21	43414117	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	71986	43414117	4715778	3160	17459											
SLC37A1	54020	broad.mit.edu	37	chr21	43955631	43955631	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctggactactccttcctGtgcgcctatgccgtggggat	12	14	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:43955631G>A	uc002zbi.2	+	6	733	c.321G>A	c.(319-321)CTG>CTA	p.L107L	SLC37A1_uc002zbj.2_Silent_p.L107L	NM_018964	NP_061837	P57057	GLPT_HUMAN	solute carrier family 37 member 1	107	Helical; (Potential).				carbohydrate transport|transmembrane transport	integral to membrane					0						ACTCCTTCCTGTGCGCCTATG	0.498													A	43955631	G	A	43955631	2	1	19	1	0	0	0	0	0	0	0	1	14597	1364	48	4		4	SLC37A1	21	43955631	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	541514	43955631	4174264	3161	17460											
PKNOX1	5316	broad.mit.edu	37	chr21	44430270	44430270	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtagacatcgaaaattTtgtaagaaagcaagagaagg	11	3	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:44430270T>C	uc002zcq.1	+	4	475	c.287T>C	c.(286-288)TTT>TCT	p.F96S	PKNOX1_uc002zcp.1_Missense_Mutation_p.F96S|PKNOX1_uc011aex.1_Intron|PKNOX1_uc002zcr.2_Missense_Mutation_p.F96S	NM_004571	NP_004562	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	96							sequence-specific DNA binding			large_intestine(2)	2						ATCGAAAATTTTGTAAGAAAG	0.308													C	44430270	T	C	44430270	3	2	19	1	0	0	0	0	1	0	0	0	11982	1841	64	3	297	3	PKNOX1	21	44430270	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	474639	44430270	3699625	3162	17461											
PDXK	8566	broad.mit.edu	37	chr21	45161602	45161602	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgagctccaggagttgtAcgaaggcctgaggctgaaca	14	8	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:45161602A>G	uc002zdm.3	+	3	395	c.197A>G	c.(196-198)TAC>TGC	p.Y66C	PDXK_uc010gpj.2_Missense_Mutation_p.Y66C|PDXK_uc002zdn.3_Missense_Mutation_p.Y66C|PDXK_uc002zdq.3_5'UTR	NM_003681	NP_003672	O00764	PDXK_HUMAN	pyridoxal kinase	66					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding				0				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	CAGGAGTTGTACGAAGGCCTG	0.582													G	45161602	A	G	45161602	3	3	19	1	0	0	0	0	1	0	0	0	11697	391	14	3	207	3	PDXK	21	45161602	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	731332	45161602	2968293	3163	17462											
TRAPPC10	7109	broad.mit.edu	37	chr21	45472325	45472325	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctctattgtggacaaaatAagaaatgatttttgtaataa	6	4	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:45472325A>G	uc002zea.2	+	4	619	c.450A>G	c.(448-450)ATA>ATG	p.I150M	TRAPPC10_uc010gpo.2_Translation_Start_Site|TRAPPC10_uc002zdz.2_Missense_Mutation_p.I150M	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	150					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						TGGACAAAATAAGAAATGATT	0.353													G	45472325	A	G	45472325	3	3	19	1	0	0	0	0	1	0	0	0	16454	352	13	3	464	3	TRAPPC10	21	45472325	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	310723	45472325	2657570	3164	17463											
PWP2	5822	broad.mit.edu	37	chr21	45534550	45534550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgcccagatgtatcatgCccctgggaagaagcgggagt	13	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:45534550C>T	uc002zeb.2	+	5	461	c.371C>T	c.(370-372)GCC>GTC	p.A124V		NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	124	WD 3.					cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		ATGTATCATGCCCCTGGGAAG	0.517													T	45534550	C	T	45534550	3	4	19	1	0	0	0	0	1	0	0	0	12844	739	26	2	389	2	PWP2	21	45534550	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	62225	45534550	2595345	3165	17464											
C21orf2	755	broad.mit.edu	37	chr21	45752928	45752928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctaccctggttgtccaGcttctgtaggcgcggcaggg	13	14	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:45752928G>A	uc002zep.2	-	4	569	c.361C>T	c.(361-363)CTG>TTG	p.L121L	C21orf2_uc002zeo.1_Silent_p.L80L|C21orf2_uc002zeq.2_Silent_p.L121L|C21orf2_uc002zer.2_Silent_p.L121L	NM_004928	NP_004919	O43822	CU002_HUMAN	hypothetical protein LOC755	121	LRRCT.										0				Colorectal(79;0.0806)		TGGTTGTCCAGCTTCTGTAGG	0.657													A	45752928	G	A	45752928	2	1	19	1	0	0	0	0	0	0	0	1	2123	962	34	2		2	C21orf2	21	45752928	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	218378	45752928	2376967	3166	17465											
C21orf29	54084	broad.mit.edu	37	chr21	45953666	45953666	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccaccagggccgggctGcggaaggacactcgggtctg	15	14	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:45953666G>A	uc002zfe.1	-	3	510	c.444C>T	c.(442-444)CGC>CGT	p.R148R	C21orf29_uc010gpv.1_Silent_p.R80R	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	148	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity				0						GGGCCGGGCTGCGGAAGGACA	0.687													A	45953666	G	A	45953666	2	1	19	1	0	0	0	0	0	0	0	1	2124	1306	46	2		2	C21orf29	21	45953666	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	200738	45953666	2176229	3167	17466											
KRTAP10-6	386674	broad.mit.edu	37	chr21	46011724	46011724	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgcagcaagttggctgGcagctagactgctggcagca	16	9	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:46011724G>A	uc002zfm.2	-	1	663	c.642C>T	c.(640-642)TGC>TGT	p.C214C	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	keratin associated protein 10-6	214	29 X 5 AA repeats of C-C-X(3).					keratin filament					0						AAGTTGGCTGGCAGCTAGACT	0.672													A	46011724	G	A	46011724	2	1	19	1	0	0	0	0	0	0	0	1	8513	1195	42	2		2	KRTAP10-6	21	46011724	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	58058	46011724	2118171	3168	17467											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047214	46047214	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcgccccggccccctgCctgaccctggtctgcacccc	10	22	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:46047214C>T	uc002zfp.3	+	1	175	c.126C>T	c.(124-126)TGC>TGT	p.C42C	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	keratin associated protein 10-9	42	25 X 5 AA repeats of C-C-X(3).					keratin filament					0						CGGCCCCCTGCCTGACCCTGG	0.692													T	46047214	C	T	46047214	2	4	19	1	0	0	0	0	0	0	0	1	8516	747	26	2		2	KRTAP10-9	21	46047214	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	35490	46047214	2082681	3169	17468											
ITGB2	3689	broad.mit.edu	37	chr21	46313382	46313382	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgtgcgtcactccattGctgcagaaggagtcgtaggt	12	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:46313382G>A	uc002zgd.2	-	9	1205	c.1161C>T	c.(1159-1161)AGC>AGT	p.S387S	ITGB2_uc002zge.2_Silent_p.S387S|ITGB2_uc002zgf.3_Silent_p.S387S|ITGB2_uc011afl.1_Silent_p.S309S|ITGB2_uc010gpw.2_Silent_p.S330S|ITGB2_uc002zgg.2_Silent_p.S387S	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	387	Extracellular (Potential).				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	TCACTCCATTGCTGCAGAAGG	0.597											OREG0026255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	46313382	G	A	46313382	2	1	19	1	0	0	0	0	0	0	0	1	7894	1310	46	2		2	ITGB2	21	46313382	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	266168	46313382	1816513	3170	17469											
C21orf70	85395	broad.mit.edu	37	chr21	46363606	46363606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggggacattaggactgggCgttcatcaacaccaacatct	10	10	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:46363606C>T	uc002zgl.2	+	2	155	c.137C>T	c.(136-138)GCG>GTG	p.A46V	C21orf70_uc002zgm.2_Missense_Mutation_p.A46V	NM_058190	NP_478070	Q9NSI2	CU070_HUMAN	hypothetical protein LOC85395	46											0				Colorectal(79;0.248)		TAGGACTGGGCGTTCATCAAC	0.517													T	46363606	C	T	46363606	3	4	19	1	0	0	0	0	1	0	0	0	2133	768	27	1	143	1	C21orf70	21	46363606	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	50224	46363606	1766289	3171	17470											
ADARB1	104	broad.mit.edu	37	chr21	46591577	46591577	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaagtattttgccatggaTatagaagatgaagaaaacat	8	4	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:46591577T>C	uc002zgy.2	+	3	441	c.6T>C	c.(4-6)GAT>GAC	p.D2D	ADARB1_uc002zgr.2_Silent_p.D2D|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Silent_p.D2D|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Silent_p.D2D|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA|ADARB1_uc011afo.1_Silent_p.D51D	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	2					adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		TTGCCATGGATATAGAAGATG	0.353													C	46591577	T	C	46591577	2	2	19	1	0	0	0	0	0	0	0	1	282	1403	49	3		3	ADARB1	21	46591577	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	227971	46591577	1538318	3172	17471											
MCM3AP	8888	broad.mit.edu	37	chr21	47685905	47685905	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggctctccccgatgtActtgttctgggagttgaagc	13	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:47685905A>G	uc002zir.1	-	11	3001	c.2965T>C	c.(2965-2967)TAC>CAC	p.Y989H	MCM3AP_uc002ziq.1_5'UTR	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	989					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					TCCCCGATGTACTTGTTCTGG	0.617													G	47685905	A	G	47685905	3	3	19	1	0	0	0	0	1	0	0	0	9388	391	14	3	3049	3	MCM3AP	21	47685905	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1094328	47685905	443990	3173	17472											
C21orf57	54059	broad.mit.edu	37	chr21	47711299	47711299	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttccagatgactacaatTtgggagacattttcctagga	8	7	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:47711299T>C	uc002ziv.2	+	3	691	c.262T>C	c.(262-264)TTG>CTG	p.L88L	C21orf57_uc002zit.1_Silent_p.L88L|C21orf57_uc002ziu.1_Silent_p.L88L|C21orf57_uc002ziw.2_Silent_p.L43L|C21orf57_uc002zix.2_Silent_p.L88L|C21orf57_uc010gqh.2_Intron|C21orf57_uc002ziy.2_Intron|uc010gqi.1_5'Flank	NM_058181	NP_478061	P58557	YBEY_HUMAN	hypothetical protein LOC54059 isoform 1	88							metal ion binding|metalloendopeptidase activity				0	Breast(49;0.112)			Colorectal(79;0.236)		TGACTACAATTTGGGAGACAT	0.403													C	47711299	T	C	47711299	2	2	19	1	0	0	0	0	0	0	0	1	2128	1838	64	3		3	C21orf57	21	47711299	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	25394	47711299	418596	3174	17473											
C21orf58	54058	broad.mit.edu	37	chr21	47738113	47738113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgttgcctgcagggcggGccttacctcctggagaccag	15	13	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:47738113G>A	uc002zjf.2	-	3	1256	c.122C>T	c.(121-123)GCC>GTC	p.A41V	C21orf58_uc002ziz.2_5'UTR|C21orf58_uc002zja.2_5'UTR|C21orf58_uc011afw.1_5'UTR|C21orf58_uc002zjc.2_5'UTR|C21orf58_uc011afx.1_5'UTR|C21orf58_uc010gqj.1_RNA|C21orf58_uc002zjg.1_RNA	NM_058180	NP_478060	P58505	CU058_HUMAN	hypothetical protein LOC54058	41										pancreas(1)	1	Breast(49;0.112)			Colorectal(79;0.239)		TGCAGGGCGGGCCTTACCTCC	0.652													A	47738113	G	A	47738113	3	1	19	1	0	0	0	0	1	0	0	0	2129	1203	42	2	874	2	C21orf58	21	47738113	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	26814	47738113	391782	3175	17474											
DIP2A	23181	broad.mit.edu	37	chr21	47961794	47961794	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactgttcaggacgttggtcAggtgatgcctggaggtaaga	15	6	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:47961794A>G	uc002zjo.2	+	18	2345	c.2162A>G	c.(2161-2163)CAG>CGG	p.Q721R	DIP2A_uc011afy.1_Missense_Mutation_p.Q657R|DIP2A_uc011afz.1_Missense_Mutation_p.Q717R|DIP2A_uc002zjl.2_Missense_Mutation_p.Q721R|DIP2A_uc002zjm.2_Missense_Mutation_p.Q721R|DIP2A_uc010gql.2_Missense_Mutation_p.Q678R|DIP2A_uc002zjn.2_Missense_Mutation_p.Q721R|DIP2A_uc002zjp.1_Missense_Mutation_p.Q466R|DIP2A_uc002zjq.2_Missense_Mutation_p.Q113R	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	721					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GACGTTGGTCAGGTGATGCCT	0.393													G	47961794	A	G	47961794	3	3	19	1	0	0	0	0	1	0	0	0	4527	188	7	3	2232	3	DIP2A	21	47961794	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	223681	47961794	168101	3176	17475											
XKR3	150165	broad.mit.edu	37	chr22	17264918	17264918	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgacaactgcagtttcactGctgaccagcaggagaagttg	11	10	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:17264918G>T	uc002zlv.2	-	4	1069	c.971C>A	c.(970-972)GCA>GAA	p.A324E	XKR3_uc011agf.1_Missense_Mutation_p.A324E	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	X Kell blood group precursor-related family,	324						integral to membrane|plasma membrane				large_intestine(1)|ovary(1)|skin(1)	3	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGTTTCACTGCTGACCAGCA	0.418													T	17264918	G	T	17264918	3	4	19	1	0	0	0	0	1	0	0	0	17429	1319	46	5	412	5	XKR3	22	17264918	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08		17264918	34039648	3177	17476											
XKR3	150165	broad.mit.edu	37	chr22	17265193	17265193	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgacacagaagaattctatCggcggtagcttaatggtagt	11	7	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:17265193C>T	uc002zlv.2	-	4	794	c.696G>A	c.(694-696)CCG>CCA	p.P232P	XKR3_uc011agf.1_Silent_p.P232P	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	X Kell blood group precursor-related family,	232						integral to membrane|plasma membrane				large_intestine(1)|ovary(1)|skin(1)	3	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGAATTCTATCGGCGGTAGCT	0.433													T	17265193	C	T	17265193	2	4	19	1	0	0	0	0	0	0	0	1	17429	871	31	1		1	XKR3	22	17265193	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	275	17265193	34039373	3178	17477											
CECR5	27440	broad.mit.edu	37	chr22	17625945	17625945	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgctccaggtccaccAtgtcaagcagaggaaaggcc	12	15	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:17625945A>T	uc002zmf.2	-	4	534	c.506T>A	c.(505-507)ATG>AAG	p.M169K	CECR5_uc002zme.2_5'UTR|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Missense_Mutation_p.M139K	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	169							hydrolase activity				0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CAGGTCCACCATGTCAAGCAG	0.557													T	17625945	A	T	17625945	3	4	19	1	0	0	0	0	1	0	0	0	3207	217	8	5	785	5	CECR5	22	17625945	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	360752	17625945	33678621	3179	17478											
CECR1	51816	broad.mit.edu	37	chr22	17662465	17662465	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actctccaacagggtactgtAcctgcaggaagaggaggagc	13	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:17662465A>G	uc002zmk.1	-	9	1656	c.1444T>C	c.(1444-1446)TAC>CAC	p.Y482H	CECR1_uc010gqu.1_Missense_Mutation_p.Y482H|CECR1_uc011agi.1_Missense_Mutation_p.Y440H|CECR1_uc002zmj.1_Missense_Mutation_p.Y241H	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	cat eye syndrome critical region protein 1	482					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			ovary(1)	1		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				AGGGTACTGTACCTGCAGGAA	0.532													G	17662465	A	G	17662465	3	3	19	1	0	0	0	0	1	0	0	0	3205	405	14	3	95	3	CECR1	22	17662465	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	36520	17662465	33642101	3180	17479											
CECR2	27443	broad.mit.edu	37	chr22	17984004	17984004	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctctacaagctcctcAgtgaggacttcctgcctgag	11	13	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:17984004A>G	uc010gqw.1	+	6	826	c.700A>G	c.(700-702)AGT>GGT	p.S234G	CECR2_uc010gqv.1_Missense_Mutation_p.S113G|CECR2_uc002zml.2_Missense_Mutation_p.S113G|CECR2_uc002zmm.1_Missense_Mutation_p.S113G	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	276					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		CAAGCTCCTCAGTGAGGACTT	0.552													G	17984004	A	G	17984004	3	3	19	1	0	0	0	0	1	0	0	0	3206	188	7	3	724	3	CECR2	22	17984004	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	321539	17984004	33320562	3181	17480											
MICAL3	57553	broad.mit.edu	37	chr22	18368674	18368674	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccgatggactgtgcgggCgcattctcttcaaatttggc	12	10	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:18368674C>T	uc002zng.3	-	16	2564	c.2211G>A	c.(2209-2211)GCG>GCA	p.A737A	MICAL3_uc011agl.1_Silent_p.A737A|MICAL3_uc002znh.2_Silent_p.A737A|MICAL3_uc002znj.1_Silent_p.A437A|MICAL3_uc002znk.1_Silent_p.A737A|MICAL3_uc002znl.1_Silent_p.A370A|MICAL3_uc002znm.2_Silent_p.A238A|MICAL3_uc010grf.2_Silent_p.A737A	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	737						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		ACTGTGCGGGCGCATTCTCTT	0.547													T	18368674	C	T	18368674	2	4	19	1	0	0	0	0	0	0	0	1	9571	755	27	1		1	MICAL3	22	18368674	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	384670	18368674	32935892	3182	17481											
USP18	11274	broad.mit.edu	37	chr22	18643009	18643009	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcaggtgttcgtaatgaaTgtggacttcaccaggatatt	10	6	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:18643009T>C	uc002zny.2	+	3	566	c.228T>C	c.(226-228)AAT>AAC	p.N76N		NM_017414	NP_059110	Q9UMW8	UBP18_HUMAN	ubiquitin specific protease 18	76					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)	1						TCGTAATGAATGTGGACTTCA	0.343													C	18643009	T	C	18643009	2	2	19	1	0	0	0	0	0	0	0	1	17046	1461	51	3		3	USP18	22	18643009	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	274335	18643009	32661557	3183	17482											
TSSK2	23617	broad.mit.edu	37	chr22	19119658	19119658	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgagtgcaaggacctcaTctaccgcatgctgcagcccg	11	15	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:19119658T>C	uc002zow.2	+	1	1338	c.746T>C	c.(745-747)ATC>ACC	p.I249T	DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	249	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)	1	Colorectal(54;0.0993)					AAGGACCTCATCTACCGCATG	0.602													C	19119658	T	C	19119658	3	2	19	1	0	0	0	0	1	0	0	0	16666	1435	50	3	748	3	TSSK2	22	19119658	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	476649	19119658	32184908	3184	17483											
SLC25A1	6576	broad.mit.edu	37	chr22	19165307	19165307	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcccaggccgcacagcAgcccacgcgtgctgtccagc	12	19	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:19165307A>G	uc002zoz.2	-	4	489	c.374T>C	c.(373-375)CTG>CCG	p.L125P	SLC25A1_uc002zoy.2_Missense_Mutation_p.L22P|SLC25A1_uc002zpa.2_Missense_Mutation_p.L73P	NM_005984	NP_005975	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier;	125	Solcar 2.				gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding				0	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		GCCGCACAGCAGCCCACGCGT	0.687													G	19165307	A	G	19165307	3	3	19	1	0	0	0	0	1	0	0	0	14471	188	7	3	585	3	SLC25A1	22	19165307	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	45649	19165307	32139259	3185	17484											
HIRA	7290	broad.mit.edu	37	chr22	19341012	19341012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcaccacatgaggcacGgagaagagccgggcagcctg	15	12	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:19341012G>A	uc002zpf.1	-	23	2935	c.2715C>T	c.(2713-2715)TCC>TCT	p.S905S	HIRA_uc011agx.1_Silent_p.S771S|HIRA_uc010grn.1_Silent_p.S698S|HIRA_uc010gro.1_Silent_p.S861S|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	905	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					CATGAGGCACGGAGAAGAGCC	0.622													A	19341012	G	A	19341012	2	1	19	1	0	0	0	0	0	0	0	1	7120	1103	39	1		1	HIRA	22	19341012	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	175705	19341012	31963554	3186	17485											
DGCR8	54487	broad.mit.edu	37	chr22	20079068	20079068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattcaatcgggaaatgaagCggaagcaggcggagtccgag	15	7	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:20079068C>T	uc002zri.2	+	6	1767	c.1417C>T	c.(1417-1419)CGG>TGG	p.R473W	DGCR8_uc010grz.2_Missense_Mutation_p.R473W|DGCR8_uc002zrj.2_Missense_Mutation_p.R116W	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	473	Necessary for heme-binding and pri-miRNA processing.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					GGAAATGAAGCGGAAGCAGGC	0.483													T	20079068	C	T	20079068	3	4	19	1	0	0	0	0	1	0	0	0	4464	759	27	1	1435	1	DGCR8	22	20079068	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	738056	20079068	31225498	3187	17486											
PI4KA	5297	broad.mit.edu	37	chr22	21101932	21101932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgctctcagtggccatgGccagccccgtgtgctgggac	15	13	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:21101932G>A	uc002zsz.3	-	29	3359	c.3128C>T	c.(3127-3129)GCC>GTC	p.A1043V		NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	1043					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGTGGCCATGGCCAGCCCCGT	0.488													A	21101932	G	A	21101932	3	1	19	1	0	0	0	0	1	0	0	0	11873	1203	42	2	3114	2	PI4KA	22	21101932	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1022864	21101932	30202634	3188	17487											
PI4KA	5297	broad.mit.edu	37	chr22	21156328	21156328	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctggctcttcttacccgAcatgacgttcagggttgact	12	11	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:21156328A>G	uc002zsz.3	-	14	1714	c.1483T>C	c.(1483-1485)TCG>CCG	p.S495P	PI4KA_uc010gsq.1_Missense_Mutation_p.S553P	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	495					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TTCTTACCCGACATGACGTTC	0.463													G	21156328	A	G	21156328	3	3	19	1	0	0	0	0	1	0	0	0	11873	275	10	3	4819	3	PI4KA	22	21156328	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	54396	21156328	30148238	3189	17488											
LZTR1	8216	broad.mit.edu	37	chr22	21348936	21348936	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagcagctgtgccgccagTacatcgaggcctccgtggac	14	13	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:21348936T>C	uc002zto.2	+	15	1808	c.1705T>C	c.(1705-1707)TAC>CAC	p.Y569H	LZTR1_uc002ztn.2_Missense_Mutation_p.Y528H|LZTR1_uc011ahy.1_Missense_Mutation_p.Y550H|LZTR1_uc010gsr.1_3'UTR|LZTR1_uc002ztp.2_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	569					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTGCCGCCAGTACATCGAGGC	0.632													C	21348936	T	C	21348936	3	2	19	1	0	0	0	0	1	0	0	0	9137	1638	57	3	1763	3	LZTR1	22	21348936	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	192608	21348936	29955630	3190	17489											
HIC2	23119	broad.mit.edu	37	chr22	21799829	21799829	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatagcgtgcaaggtctgggCcgggctgtctgcccagctgg	17	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:21799829C>T	uc002zur.3	+	3	875	c.645C>T	c.(643-645)GGC>GGT	p.G215G	HIC2_uc002zus.3_Silent_p.G215G	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	215					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				AAGGTCTGGGCCGGGCTGTCT	0.687													T	21799829	C	T	21799829	2	4	19	1	0	0	0	0	0	0	0	1	7102	726	26	2		2	HIC2	22	21799829	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	450893	21799829	29504737	3191	17490											
HIC2	23119	broad.mit.edu	37	chr22	21800560	21800560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctctgagcagctcaatgCgcacgtggagactcacacgg	12	13	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:21800560C>T	uc002zur.3	+	3	1606	c.1376C>T	c.(1375-1377)GCG>GTG	p.A459V	HIC2_uc002zus.3_Missense_Mutation_p.A459V	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	459	C2H2-type 1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CAGCTCAATGCGCACGTGGAG	0.612													T	21800560	C	T	21800560	3	4	19	1	0	0	0	0	1	0	0	0	7102	768	27	1	1382	1	HIC2	22	21800560	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	731	21800560	29504006	3192	17491											
TOP3B	8940	broad.mit.edu	37	chr22	22317239	22317239	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagtgtctggtgatgtActcatagagccgccacgcgt	13	9	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:22317239A>G	uc002zvs.2	-	12	1666	c.1231T>C	c.(1231-1233)TAC>CAC	p.Y411H	TOP3B_uc010gtm.1_5'UTR|TOP3B_uc002zvr.2_Missense_Mutation_p.Y136H|TOP3B_uc010gtl.2_Missense_Mutation_p.Y411H|TOP3B_uc002zvt.3_Missense_Mutation_p.Y411H	NM_003935	NP_003926	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	411					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			kidney(1)	1	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CTGGTGATGTACTCATAGAGC	0.622													G	22317239	A	G	22317239	3	3	19	1	0	0	0	0	1	0	0	0	16365	391	14	3	1385	3	TOP3B	22	22317239	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	516679	22317239	28987327	3193	17492											
TOP3B	8940	broad.mit.edu	37	chr22	22318552	22318552	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgtcggcccagtaggggTggttggcctgctgccgcaga	17	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:22318552T>C	uc002zvs.2	-	10	1514	c.1079A>G	c.(1078-1080)CAC>CGC	p.H360R	TOP3B_uc010gtm.1_5'UTR|TOP3B_uc002zvr.2_Missense_Mutation_p.H85R|TOP3B_uc010gtl.2_Missense_Mutation_p.H360R|TOP3B_uc002zvt.3_Missense_Mutation_p.H360R	NM_003935	NP_003926	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	360					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			kidney(1)	1	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CCAGTAGGGGTGGTTGGCCTG	0.622													C	22318552	T	C	22318552	3	2	19	1	0	0	0	0	1	0	0	0	16365	1696	59	3	1545	3	TOP3B	22	22318552	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1313	22318552	28986014	3194	17493											
ZNF280B	140883	broad.mit.edu	37	chr22	22842774	22842774	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattcataaacttaacatttTttagaactttcacgcagctg	5	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:22842774T>C	uc002zwc.1	-	4	1726	c.950A>G	c.(949-951)AAA>AGA	p.K317R	LOC96610_uc011aim.1_Intron	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CTTAACATTTTTTAGAACTTT	0.453													C	22842774	T	C	22842774	3	2	19	1	0	0	0	0	1	0	0	0	17812	1841	64	3	685	3	ZNF280B	22	22842774	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	524222	22842774	28461792	3195	17494											
ZNF280B	140883	broad.mit.edu	37	chr22	22843029	22843029	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aagctgctggaaaaggtgctCcattctgaacatggcttaat	10	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:22843029C>A	uc002zwc.1	-	4	1471	c.695G>T	c.(694-696)GGA>GTA	p.G232V	LOC96610_uc011aim.1_Intron	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AAAAGGTGCTCCATTCTGAAC	0.368													A	22843029	C	A	22843029	3	1	19	1	0	0	0	0	1	0	0	0	17812	855	30	5	940	5	ZNF280B	22	22843029	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	255	22843029	28461537	3196	17495											
GNAZ	2781	broad.mit.edu	37	chr22	23437986	23437986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcaacgccgcgaaatcaAgctgctcctgctgggcacca	12	15	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:23437986A>G	uc002zwu.1	+	2	641	c.104A>G	c.(103-105)AAG>AGG	p.K35R	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	35						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CGCGAAATCAAGCTGCTCCTG	0.602													G	23437986	A	G	23437986	3	3	19	1	0	0	0	0	1	0	0	0	6514	72	3	3	106	3	GNAZ	22	23437986	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	594957	23437986	27866580	3197	17496											
GGT1	2678	broad.mit.edu	37	chr22	25024077	25024077	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgctctcgtccatgtgcccgAcgatcatggtgggccaggac	13	14	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:25024077A>T	uc003aan.1	+	14	1853	c.1366A>T	c.(1366-1368)ACG>TCG	p.T456S	GGT1_uc003aas.1_Missense_Mutation_p.T456S|GGT1_uc003aat.1_Missense_Mutation_p.T456S|GGT1_uc003aau.1_Missense_Mutation_p.T456S|GGT1_uc003aav.1_Missense_Mutation_p.T456S|GGT1_uc003aaw.1_Missense_Mutation_p.T456S|GGT1_uc003aax.1_Missense_Mutation_p.T456S|GGT1_uc003aay.1_Missense_Mutation_p.T112S	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	456	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)	CATGTGCCCGACGATCATGGT	0.662													T	25024077	A	T	25024077	3	4	19	1	0	0	0	0	1	0	0	0	6361	275	10	5	1404	5	GGT1	22	25024077	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1586091	25024077	26280489	3198	17497											
SGSM1	129049	broad.mit.edu	37	chr22	25263061	25263061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctccgtccgcttccagcGtctactgggactatgccatg	9	16	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:25263061G>A	uc003abg.2	+	10	1085	c.928G>A	c.(928-930)GTC>ATC	p.V310I	SGSM1_uc003abh.2_Missense_Mutation_p.V310I|SGSM1_uc010guu.1_Missense_Mutation_p.V310I|SGSM1_uc003abj.2_Missense_Mutation_p.V310I|SGSM1_uc003abi.1_Missense_Mutation_p.V285I	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	310	Required for interaction with RAP family members.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						CGCTTCCAGCGTCTACTGGGA	0.617													A	25263061	G	A	25263061	3	1	19	1	0	0	0	0	1	0	0	0	14222	1159	40	1	966	1	SGSM1	22	25263061	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	238984	25263061	26041505	3199	17498											
MYO18B	84700	broad.mit.edu	37	chr22	26165129	26165129	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcagacagagaagggcTgtgaagccccaaaggaggtg	17	7	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:26165129T>C	uc003abz.1	+	4	1496	c.1246T>C	c.(1246-1248)TGT>CGT	p.C416R	MYO18B_uc003aca.1_Missense_Mutation_p.C297R|MYO18B_uc010guy.1_Missense_Mutation_p.C297R|MYO18B_uc010guz.1_Missense_Mutation_p.C297R|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	416						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						AGAGAAGGGCTGTGAAGCCCC	0.612													C	26165129	T	C	26165129	3	2	19	1	0	0	0	0	1	0	0	0	10066	1580	55	3	1256	3	MYO18B	22	26165129	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	902068	26165129	25139437	3200	17499											
SRRD	402055	broad.mit.edu	37	chr22	26884251	26884251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttttgttggaaaagtgCcaggtacatttttggattca	10	6	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:26884251C>T	uc010gve.2	+	3	514	c.507C>T	c.(505-507)TGC>TGT	p.C169C	SRRD_uc003acp.3_Silent_p.C162C	NM_001013694	NP_001013716	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	169					rhythmic process						0						TGGAAAAGTGCCAGGTACATT	0.443													T	26884251	C	T	26884251	2	4	19	1	0	0	0	0	0	0	0	1	15166	747	26	2		2	SRRD	22	26884251	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	719122	26884251	24420315	3201	17500											
TFIP11	24144	broad.mit.edu	37	chr22	26888169	26888169	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccttggtctcaatgaggTccttaaagttcatgggcaca	10	10	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:26888169T>C	uc003acr.2	-	14	2698	c.2324A>G	c.(2323-2325)GAC>GGC	p.D775G	TFIP11_uc003acq.2_Missense_Mutation_p.D134G|TFIP11_uc003acs.2_Missense_Mutation_p.D775G|TFIP11_uc003act.2_Missense_Mutation_p.D775G|uc003acu.1_RNA	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	775					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						CTCAATGAGGTCCTTAAAGTT	0.567													C	26888169	T	C	26888169	3	2	19	1	0	0	0	0	1	0	0	0	15804	1667	58	3	193	3	TFIP11	22	26888169	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	3918	26888169	24416397	3202	17501											
MN1	4330	broad.mit.edu	37	chr22	28196286	28196286	+	Frame_Shift_Del	DEL	C	C	-													tgcacaggctgcgcttgcagCccccctgcgtgcaactccga							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:28196285_28196285GC>G	uc003adj.3	-	0	1202	c.247_247GC>C	c.(247-249)ctgfs	p.L83fs		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	83							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TGCGCTTGCAGCCCCCCTGCG	0.672			T	ETV6	"AML, meningioma"								-	28196286	C	-	28196286	7	5	19	1	0	1	0	1	0	0	0	0	9673	726	26	0	3724	0	MN1	22	28196286	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	1308117	28196286	23108280	3203	17502											
CHEK2	11200	broad.mit.edu	37	chr22	29083889	29083889	+	Missense_Mutation	SNP	A	A	G													gttcaaaccacggagttcacAacacagcagcacacacagct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:29083889A>G	uc003adu.1	-	15	1700	c.1628T>C	c.(1627-1629)TTG>TCG	p.L543S	CHEK2_uc003ads.1_Missense_Mutation_p.L322S|CHEK2_uc010gvh.1_Missense_Mutation_p.L452S|CHEK2_uc010gvi.1_Missense_Mutation_p.L392S|CHEK2_uc010gvj.1_RNA|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.L586S|CHEK2_uc003adv.1_Missense_Mutation_p.L514S|CHEK2_uc003adw.1_Missense_Mutation_p.L543S|CHEK2_uc003adx.1_Missense_Mutation_p.L322S|CHEK2_uc003ady.1_Missense_Mutation_p.L532S|CHEK2_uc003adz.1_Missense_Mutation_p.L347S	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	543					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						CGGAGTTCACAACACAGCAGC	0.438			F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer				G	29083889	A	G	29083889	3	3	19	1	0	0	0	0	1	0	0	0	3335	131	5	3	7	3	CHEK2	22	29083889	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	887603	29083889	22220677	3204	17503	61	2									
CHEK2	11200	broad.mit.edu	37	chr22	29083895	29083895	+	Missense_Mutation	SNP	G	G	C													accacggagttcacaacacaGcagcacacacagctgggcgc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:29083895G>C	uc003adu.1	-	15	1694	c.1622C>G	c.(1621-1623)GCT>GGT	p.A541G	CHEK2_uc003ads.1_Missense_Mutation_p.A320G|CHEK2_uc010gvh.1_Missense_Mutation_p.A450G|CHEK2_uc010gvi.1_Missense_Mutation_p.A390G|CHEK2_uc010gvj.1_RNA|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.A584G|CHEK2_uc003adv.1_Missense_Mutation_p.A512G|CHEK2_uc003adw.1_Missense_Mutation_p.A541G|CHEK2_uc003adx.1_Missense_Mutation_p.A320G|CHEK2_uc003ady.1_Missense_Mutation_p.A530G|CHEK2_uc003adz.1_Missense_Mutation_p.A345G	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	541					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						TCACAACACAGCAGCACACAC	0.448			F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer				C	29083895	G	C	29083895	3	2	19	1	0	0	0	0	1	0	0	0	3335	971	34	5	13	5	CHEK2	22	29083895	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	6	29083895	22220671	3205	17504	61	2									
CCDC117	150275	broad.mit.edu	37	chr22	29182081	29182081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtattttatgtcttaggagcCgtccttccatggagcttgtt	10	8	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:29182081C>T	uc003aeb.2	+	5	783	c.607C>T	c.(607-609)CGT>TGT	p.R203C	CCDC117_uc011aki.1_Missense_Mutation_p.R185C|CCDC117_uc011akj.1_Missense_Mutation_p.R128C|CCDC117_uc011akk.1_Missense_Mutation_p.R71C	NM_173510	NP_775781	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	203										breast(1)	1						TCTTAGGAGCCGTCCTTCCAT	0.398													T	29182081	C	T	29182081	3	4	19	1	0	0	0	0	1	0	0	0	2754	652	23	1	625	1	CCDC117	22	29182081	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	98186	29182081	22122485	3206	17505											
RFPL1	5988	broad.mit.edu	37	chr22	29837922	29837922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggatatgggcatgcagaaCgtttccttttttgatgctga	11	7	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:29837922C>T	uc003afn.2	+	2	974	c.765C>T	c.(763-765)AAC>AAT	p.N255N	RFPL1S_uc003afm.1_RNA	NM_021026	NP_066306	O75677	RFPL1_HUMAN	ret finger protein-like 1	255	B30.2/SPRY.						zinc ion binding				0						GCATGCAGAACGTTTCCTTTT	0.512													T	29837922	C	T	29837922	2	4	19	1	0	0	0	0	0	0	0	1	13253	535	19	1		1	RFPL1	22	29837922	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	655841	29837922	21466644	3207	17506											
UQCR10	29796	broad.mit.edu	37	chr22	30163472	30163472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcaccatcatcgtgggcGtcatgttcttcgagcgcgcc	10	16	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:30163472G>A	uc003agq.1	+	1	115	c.85G>A	c.(85-87)GTC>ATC	p.V29I	ZMAT5_uc003agm.2_5'Flank|ZMAT5_uc003agn.2_5'Flank|ZMAT5_uc003ago.1_5'Flank|UQCR10_uc003agp.1_Missense_Mutation_p.V29I	NM_013387	NP_037519	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase complex 7.2kDa	29					mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity			ovary(1)	1						CATCGTGGGCGTCATGTTCTT	0.602													A	30163472	G	A	30163472	3	1	19	1	0	0	0	0	1	0	0	0	17013	1145	40	1	87	1	UQCR10	22	30163472	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	325550	30163472	21141094	3208	17507											
SEC14L3	266629	broad.mit.edu	37	chr22	30864625	30864625	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccaatgatgtcataccacAcggggcagccatcacggtca	10	14	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:30864625A>G	uc003ahy.2	-	5	382	c.293T>C	c.(292-294)GTG>GCG	p.V98A	SEC14L3_uc003ahz.2_Missense_Mutation_p.V21A|SEC14L3_uc003aia.2_Missense_Mutation_p.V39A|SEC14L3_uc003aib.2_Missense_Mutation_p.V39A	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	SEC14-like 3	98	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			ovary(3)|pancreas(1)|skin(1)	5					Vitamin E(DB00163)	GTCATACCACACGGGGCAGCC	0.547													G	30864625	A	G	30864625	3	3	19	1	0	0	0	0	1	0	0	0	13983	159	6	3	941	3	SEC14L3	22	30864625	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	701153	30864625	20439941	3209	17508											
PLA2G3	50487	broad.mit.edu	37	chr22	31533758	31533758	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggccacatcaagcctgggaGagaccatagggtcctggagg	16	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:31533758G>T	uc003aka.2	-	4	1133	c.1004C>A	c.(1003-1005)TCT>TAT	p.S335Y		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	335					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0						AAGCCTGGGAGAGACCATAGG	0.612													T	31533758	G	T	31533758	3	4	19	1	0	0	0	0	1	0	0	0	12000	942	33	5	541	5	PLA2G3	22	31533758	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	669133	31533758	19770808	3210	17509											
LIMK2	3985	broad.mit.edu	37	chr22	31663869	31663869	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtacattgaggggggcacActgaaggactttctgcgcag	15	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:31663869A>G	uc003akh.2	+	10	1381	c.1236A>G	c.(1234-1236)ACA>ACG	p.T412T	LIMK2_uc003akg.2_Silent_p.T329T|LIMK2_uc003aki.2_Silent_p.T166T|LIMK2_uc003akj.2_Silent_p.T391T|LIMK2_uc003akk.2_Silent_p.T391T|LIMK2_uc011aln.1_Silent_p.T329T	NM_005569	NP_005560	P53671	LIMK2_HUMAN	LIM domain kinase 2 isoform 2a	412	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			ovary(2)	2						AGGGGGGCACACTGAAGGACT	0.532													G	31663869	A	G	31663869	2	3	19	1	0	0	0	0	0	0	0	1	8802	146	6	3		3	LIMK2	22	31663869	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	130111	31663869	19640697	3211	17510											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31845332	31845332	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgacaaataagtatatttAccaattggtgatggtattct	7	4	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:31845332A>G	uc003akz.1	-	12	1932	c.1768_splice	c.e12+1	p.G590_splice	EIF4ENIF1_uc003akx.1_Splice_Site_p.G245_splice|EIF4ENIF1_uc003aky.1_Splice_Site_p.G269_splice|EIF4ENIF1_uc003ala.1_Splice_Site_p.G590_splice|EIF4ENIF1_uc003alb.1_Splice_Site_p.G415_splice|EIF4ENIF1_uc003akw.1_Splice_Site_p.G79_splice	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E							nucleus	protein binding|protein transporter activity			ovary(1)	1						AAGTATATTTACCAATTGGTG	0.289													G	31845332	A	G	31845332	5	3	19	1	0	0	0	0	0	0	1	0	5035	405	14	3	1222	3	EIF4ENIF1	22	31845332	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	181463	31845332	19459234	3212	17511											
PVALB	5816	broad.mit.edu	37	chr22	37209708	37209708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgtcaaccccaattttgcCgtccccatctttgtctccag	5	17	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:37209708C>T	uc010gwz.2	-	3	316	c.286G>A	c.(286-288)GGC>AGC	p.G96S	PVALB_uc003apx.2_Missense_Mutation_p.G96S	NM_002854	NP_002845	P20472	PRVA_HUMAN	parvalbumin	96	EF-hand 2.|2.						calcium ion binding			skin(1)	1						CCAATTTTGCCGTCCCCATCT	0.517													T	37209708	C	T	37209708	3	4	19	1	0	0	0	0	1	0	0	0	12836	652	23	1	54	1	PVALB	22	37209708	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	5364376	37209708	14094858	3213	17512											
TMPRSS6	164656	broad.mit.edu	37	chr22	37471323	37471323	+	Splice_Site	DEL	G	G	-													atgcgcaagccacacagcctGgggggagtcagagacgactc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:37471322_37471322TG>T	uc003aqt.1	-	11	1259	c.1197_splice	c.e11-1	p.R399_splice	TMPRSS6_uc003aqs.1_Splice_Site_p.R408_splice	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	408	CUB 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CCACACAGCCTGGGGGGAGTC	0.662													-	37471323	G	-	37471323	8	5	19	1	0	1	0	1	0	0	1	0	16248	1363	47	0		0	TMPRSS6	22	37471323	Splice_Site	DEL	G	TCGA-BR-4361-01A-01D-1158-08	261615	37471323	13833243	3214	17513											
SSTR3	6753	broad.mit.edu	37	chr22	37603130	37603130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgagggtgcccacacccggCgcccagctgagcgcaccttc	12	18	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:37603130C>T	uc003ara.2	-	2	775	c.713G>A	c.(712-714)CGC>CAC	p.R238H	SSTR3_uc003arb.2_Missense_Mutation_p.R238H	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	238	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1						CCACACCCGGCGCCCAGCTGA	0.682													T	37603130	C	T	37603130	3	4	19	1	0	0	0	0	1	0	0	0	15198	768	27	1	547	1	SSTR3	22	37603130	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	131807	37603130	13701436	3215	17514											
SH3BP1	23616	broad.mit.edu	37	chr22	38051301	38051301	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcgcccggcgccagcccgGcccaccatgccgccccccca	10	24	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:38051301G>A	uc003ati.2	+	18	1827	c.1716G>A	c.(1714-1716)CGG>CGA	p.R572R	SH3BP1_uc003atg.1_RNA|SH3BP1_uc003ath.1_Intron|SH3BP1_uc003atj.1_Intron|SH3BP1_uc003atk.1_Intron|uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	572					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					CGCCAGCCCGGCCCACCATGC	0.642													A	38051301	G	A	38051301	2	1	19	1	0	0	0	0	0	0	0	1	14244	1190	42	2		2	SH3BP1	22	38051301	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	448171	38051301	13253265	3216	17515											
TRIOBP	11078	broad.mit.edu	37	chr22	38121772	38121772	+	Frame_Shift_Del	DEL	C	C	-													gtgcattggacaccgagatgCcccccgggcgtcctcgcccc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:38121771_38121771GC>G	uc003atr.3	+	6	3479	c.3208_3208GC>G	c.(3208-3210)gccfs	p.A1070fs	TRIOBP_uc003atu.3_Frame_Shift_Del_p.A898fs|TRIOBP_uc003atq.1_Frame_Shift_Del_p.A1070fs|TRIOBP_uc003ats.1_Frame_Shift_Del_p.A898fs	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1070					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACACCGAGATGCCCCCCGGGC	0.647													-	38121772	C	-	38121772	7	5	19	1	0	1	0	1	0	0	0	0	16550	739	26	0	3227	0	TRIOBP	22	38121772	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	70471	38121772	13182794	3217	17516											
CSNK1E	1454	broad.mit.edu	37	chr22	38699188	38699188	+	Frame_Shift_Del	DEL	G	G	-													cttgctctcgatgtgcagctGggggtgctttgtcttcacac							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:38699188delG	uc003avj.2	-	3	403	c.142delC	c.(142-144)CAGfs	p.Q48fs	CSNK1E_uc003avk.2_Frame_Shift_Del_p.Q48fs|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Frame_Shift_Del_p.Q48fs|CSNK1E_uc003avo.2_Frame_Shift_Del_p.Q48fs|CSNK1E_uc003avp.1_Frame_Shift_Del_p.Q48fs|CSNK1E_uc003avq.1_Frame_Shift_Del_p.Q48fs|LOC400927_uc010gxm.2_RNA	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	48	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)					ATGTGCAGCTGGGGGTGCTTT	0.662													-	38699188	G	-	38699188	7	5	19	1	0	1	0	1	0	0	0	0	3953	1357	47	0	1140	0	CSNK1E	22	38699188	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	577416	38699188	12605378	3218	17517											
GTPBP1	9567	broad.mit.edu	37	chr22	39123224	39123224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctttctttcagatcaagCgctcgtccatccggaagggc	9	14	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:39123224C>T	uc003awg.2	+	9	1562	c.1408C>T	c.(1408-1410)CGC>TGC	p.R470C		NM_004286	NP_004277	O00178	GTPB1_HUMAN	GTP binding protein 1	470					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			ovary(1)	1	Melanoma(58;0.04)					TCAGATCAAGCGCTCGTCCAT	0.572													T	39123224	C	T	39123224	3	4	19	1	0	0	0	0	1	0	0	0	6878	768	27	1	1442	1	GTPBP1	22	39123224	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	424036	39123224	12181342	3219	17518											
APOBEC3D	140564	broad.mit.edu	37	chr22	39421135	39421135	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcttggttctgtggcaacCgactgcctgctaacaggcgc	11	12	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:39421135C>T	uc011aoe.1	+	3	325	c.271C>T	c.(271-273)CGA>TGA	p.R91*	APOBEC3D_uc011aod.1_Nonsense_Mutation_p.R91*|APOBEC3D_uc011aof.1_Intron|APOBEC3D_uc003awu.3_Intron|APOBEC3D_uc003awt.3_Nonsense_Mutation_p.R91*|APOBEC3D_uc010gxu.2_Intron	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	91					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding				0	Melanoma(58;0.04)					CTGTGGCAACCGACTGCCTGC	0.423													T	39421135	C	T	39421135	4	4	19	1	0	0	0	0	0	1	0	0	792	644	23	1	281	1	APOBEC3D	22	39421135	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	297911	39421135	11883431	3220	17519											
TAB1	10454	broad.mit.edu	37	chr22	39822886	39822886	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctagtgaggaactttggctAcccgctgggcgaaatgagcc	14	10	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:39822886A>G	uc003axt.2	+	9	1149	c.1100A>G	c.(1099-1101)TAC>TGC	p.Y367C	TAB1_uc003axr.2_Missense_Mutation_p.Y443C|TAB1_uc011aok.1_Missense_Mutation_p.Y201C|TAB1_uc003axu.1_Missense_Mutation_p.Y367C	NM_006116	NP_006107	Q15750	TAB1_HUMAN	mitogen-activated protein kinase kinase kinase 7	367	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)	1						AACTTTGGCTACCCGCTGGGC	0.652													G	39822886	A	G	39822886	3	3	19	1	0	0	0	0	1	0	0	0	15492	391	14	3	1134	3	TAB1	22	39822886	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	401751	39822886	11481680	3221	17520											
MGAT3	4248	broad.mit.edu	37	chr22	39883966	39883966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtgcccagggaggtgcCgcgccgcgtcatcaacgcca	15	15	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:39883966C>T	uc003axv.3	+	2	853	c.614C>T	c.(613-615)CCG>CTG	p.P205L	MGAT3_uc010gxy.2_Missense_Mutation_p.P205L	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	205	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					AGGGAGGTGCCGCGCCGCGTC	0.677													T	39883966	C	T	39883966	3	4	19	1	0	0	0	0	1	0	0	0	9544	652	23	1	616	1	MGAT3	22	39883966	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	61080	39883966	11420600	3222	17521											
TNRC6B	23112	broad.mit.edu	37	chr22	40718965	40718965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgcagcaaccccaagtgCgccagctgcggggtggcagt	14	14	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:40718965C>T	uc011aor.1	+	23	5433	c.5222C>T	c.(5221-5223)GCG>GTG	p.A1741V	TNRC6B_uc003aym.2_Missense_Mutation_p.A937V|TNRC6B_uc003ayn.3_Missense_Mutation_p.A1631V	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	1741					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						ACCCCAAGTGCGCCAGCTGCG	0.597													T	40718965	C	T	40718965	3	4	19	1	0	0	0	0	1	0	0	0	16338	768	27	1	5433	1	TNRC6B	22	40718965	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	834999	40718965	10585601	3223	17522											
MKL1	57591	broad.mit.edu	37	chr22	40827407	40827407	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaattccaatctccacAccttccaaaatgtgcatcct	3	14	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:40827407A>G	uc003ayv.1	-	3	346	c.139_splice	c.e3+1	p.E47_splice	MKL1_uc003ayw.1_Splice_Site_p.E47_splice|MKL1_uc010gye.1_Splice_Site_p.E47_splice|MKL1_uc010gyf.1_Splice_Site_p.E47_splice	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein						positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CAATCTCCACACCTTCCAAAA	0.468			T	RBM15	acute megakaryocytic leukemia								G	40827407	A	G	40827407	5	3	19	1	0	0	0	0	0	0	1	0	9601	173	6	3	2694	3	MKL1	22	40827407	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	108442	40827407	10477159	3224	17523											
MCHR1	2847	broad.mit.edu	37	chr22	41077604	41077604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggcccccgcctcccagcGcagcatccggctgcggacaa	12	18	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:41077604G>A	uc003ayz.2	+	2	1209	c.941G>A	c.(940-942)CGC>CAC	p.R314H	MCHR1_uc003aza.2_Missense_Mutation_p.R203H|uc003azb.1_RNA	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	G protein-coupled receptor 24	314	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity				0						GCCTCCCAGCGCAGCATCCGG	0.602													A	41077604	G	A	41077604	3	1	19	1	0	0	0	0	1	0	0	0	9382	1087	38	1	947	1	MCHR1	22	41077604	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	250197	41077604	10226962	3225	17524											
EP300	2033	broad.mit.edu	37	chr22	41523566	41523566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggatgggttctggagcaCatacagctgatccagagaag	14	7	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:41523566C>T	uc003azl.3	+	4	1377	c.982C>T	c.(982-984)CAT>TAT	p.H328Y		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	328					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						TTCTGGAGCACATACAGCTGA	0.547			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				T	41523566	C	T	41523566	3	4	19	1	0	0	0	0	1	0	0	0	5148	478	17	4	996	4	EP300	22	41523566	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	445962	41523566	9781000	3226	17525											
L3MBTL2	83746	broad.mit.edu	37	chr22	41621074	41621074	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgtggcaactgtctgtaAggtgagccaggggccggctc	16	11	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:41621074A>G	uc003azo.2	+	11	1409	c.1355A>G	c.(1354-1356)AAG>AGG	p.K452R	L3MBTL2_uc010gyi.1_Missense_Mutation_p.K361R|L3MBTL2_uc003azn.2_RNA	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2	452	MBT 3.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3						ACTGTCTGTAAGGTGAGCCAG	0.612													G	41621074	A	G	41621074	3	3	19	1	0	0	0	0	1	0	0	0	8592	86	3	3	1397	3	L3MBTL2	22	41621074	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	97508	41621074	9683492	3227	17526											
NDUFA6	4700	broad.mit.edu	37	chr22	42482293	42482293	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccgctgcttccatactttaAttgtttcttccagttcgatc	5	12	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:42482293A>T	uc003bcb.2	-	3	421	c.359T>A	c.(358-360)ATT>AAT	p.I120N		NM_002490	NP_002481	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	120					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)	CCATACTTTAATTGTTTCTTC	0.368													T	42482293	A	T	42482293	3	4	19	1	0	0	0	0	1	0	0	0	10269	101	4	5	109	5	NDUFA6	22	42482293	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	861219	42482293	8822273	3228	17527											
TCF20	6942	broad.mit.edu	37	chr22	42610373	42610373	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcggttgctgctgctgCtgcccctgttgggtcccttg	14	13	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:42610373C>T	uc003bcj.1	-	1	1073	c.939G>A	c.(937-939)CAG>CAA	p.Q313Q	TCF20_uc003bck.1_Silent_p.Q313Q|TCF20_uc003bnt.2_Silent_p.Q313Q	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	313	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						gctgctgctgctgcCCCTGTT	0.408													T	42610373	C	T	42610373	2	4	19	1	0	0	0	0	0	0	0	1	15687	796	28	2		2	TCF20	22	42610373	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	128080	42610373	8694193	3229	17528											
ARFGAP3	26286	broad.mit.edu	37	chr22	43231499	43231499	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgttgatgaaaaaaggaagActacagagaaaagcatgcac	10	5	0	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:43231499A>G	uc003bdd.2	-	4	482	c.262T>C	c.(262-264)TCT>CCT	p.S88P	ARFGAP3_uc010gzf.2_Intron|ARFGAP3_uc011apu.1_Intron	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating	88	Arf-GAP.				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(1)	1						AAAAAGGAAGACTACAGAGAA	0.299													G	43231499	A	G	43231499	3	3	19	1	0	0	0	0	1	0	0	0	851	289	10	3	1340	3	ARFGAP3	22	43231499	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	621126	43231499	8073067	3230	17529											
SCUBE1	80274	broad.mit.edu	37	chr22	43634937	43634937	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgcatgtccggtcgcagcCtccgttattgactgcgcacg	11	14	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:43634937C>A	uc003bdt.1	-	7	839	c.751G>T	c.(751-753)GGC>TGC	p.G251C	SCUBE1_uc003bdu.1_Missense_Mutation_p.G281C	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	251	EGF-like 5 (Potential).|EGF-like 6 (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				CGGTCGCAGCCTCCGTTATTG	0.552													A	43634937	C	A	43634937	3	1	19	1	0	0	0	0	1	0	0	0	13944	681	24	5	2279	5	SCUBE1	22	43634937	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	403438	43634937	7669629	3231	17530											
PARVB	29780	broad.mit.edu	37	chr22	44532343	44532343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattttggggttttcagaaaCgggaaggcctgctgcattcc	12	8	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:44532343C>T	uc003ben.2	+	7	689	c.637C>T	c.(637-639)CGG>TGG	p.R213W	PARVB_uc003bem.2_Missense_Mutation_p.R246W|PARVB_uc010gzn.2_Missense_Mutation_p.R161W|PARVB_uc003beo.2_Missense_Mutation_p.R176W	NM_013327	NP_037459	Q9HBI1	PARVB_HUMAN	parvin, beta isoform b	213					cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding				0		Ovarian(80;0.0246)|all_neural(38;0.0423)				TTTTCAGAAACGGGAAGGCCT	0.552													T	44532343	C	T	44532343	3	4	19	1	0	0	0	0	1	0	0	0	11469	527	19	1	882	1	PARVB	22	44532343	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	897406	44532343	6772223	3232	17531											
C22orf9	23313	broad.mit.edu	37	chr22	45607889	45607889	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtacgccagcttccggcgcAcatagaaaagcatgtcgtcc	10	13	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:45607889A>G	uc003bfx.1	-	2	230	c.164T>C	c.(163-165)GTG>GCG	p.V55A	C22orf9_uc003bfv.1_Missense_Mutation_p.V64A|C22orf9_uc003bfw.1_Missense_Mutation_p.V60A|C22orf9_uc010gzx.2_Missense_Mutation_p.V37A	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	hypothetical protein LOC23313 isoform b	55							protein binding				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)		CTTCCGGCGCACATAGAAAAG	0.617													G	45607889	A	G	45607889	3	3	19	1	0	0	0	0	1	0	0	0	2151	159	6	3	1086	3	C22orf9	22	45607889	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1075546	45607889	5696677	3233	17532											
FAM118A	55007	broad.mit.edu	37	chr22	45723730	45723730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctttttgtagcgcacagGcgatgccaagcccagcttct	9	14	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:45723730G>A	uc003bfz.3	+	5	924	c.308G>A	c.(307-309)GGC>GAC	p.G103D	FAM118A_uc003bga.3_Missense_Mutation_p.G103D|uc011aqp.1_5'Flank|uc011aqq.1_5'Flank|FAM118A_uc011aqr.1_5'Flank	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	103						integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TAGCGCACAGGCGATGCCAAG	0.423													A	45723730	G	A	45723730	3	1	19	1	0	0	0	0	1	0	0	0	5411	1203	42	2	318	2	FAM118A	22	45723730	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	115841	45723730	5580836	3234	17533											
SMC1B	27127	broad.mit.edu	37	chr22	45740473	45740473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctcttgctgctttcttgGccttcagtgtctggatactg	10	10	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:45740473G>A	uc003bgc.2	-	25	3724	c.3672C>T	c.(3670-3672)GGC>GGT	p.G1224G	SMC1B_uc003bgd.2_Silent_p.G1150G	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	1224					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGCTTTCTTGGCCTTCAGTGT	0.488													A	45740473	G	A	45740473	2	1	19	1	0	0	0	0	0	0	0	1	14782	1190	42	2		2	SMC1B	22	45740473	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	16743	45740473	5564093	3235	17534											
SMC1B	27127	broad.mit.edu	37	chr22	45768124	45768124	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgagttccctgtatcagggTctgtatttgtttcaaatctg	9	7	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:45768124T>A	uc003bgc.2	-	13	2159	c.2107A>T	c.(2107-2109)ACC>TCC	p.T703S	SMC1B_uc003bgd.2_Missense_Mutation_p.T703S|SMC1B_uc003bge.1_Missense_Mutation_p.T486S	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	703	Potential.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGTATCAGGGTCTGTATTTGT	0.338													A	45768124	T	A	45768124	3	1	19	1	0	0	0	0	1	0	0	0	14782	1667	58	5	1652	5	SMC1B	22	45768124	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	27651	45768124	5536442	3236	17535											
PKDREJ	10343	broad.mit.edu	37	chr22	46658199	46658199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttatgttggcatcgccaaGcatcaccgcctgcagggaac	11	12	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:46658199G>A	uc003bhh.2	-	1	1021	c.1021C>T	c.(1021-1023)CTT>TTT	p.L341F		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	341	Extracellular (Potential).|REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCATCGCCAAGCATCACCGCC	0.582													A	46658199	G	A	46658199	3	1	19	1	0	0	0	0	1	0	0	0	11970	971	34	2	5744	2	PKDREJ	22	46658199	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	890075	46658199	4646367	3237	17536											
CELSR1	9620	broad.mit.edu	37	chr22	46860228	46860228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtgcagaaggccgtgaCgctgtggatgccatctgcag	16	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:46860228C>T	uc003bhw.1	-	2	3559	c.3559G>A	c.(3559-3561)GTC>ATC	p.V1187I		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1187	Extracellular (Potential).|Cadherin 9.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AAGGCCGTGACGCTGTGGATG	0.577													T	46860228	C	T	46860228	3	4	19	1	0	0	0	0	1	0	0	0	3221	536	19	1	5621	1	CELSR1	22	46860228	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	202029	46860228	4444338	3238	17537											
SBF1	6305	broad.mit.edu	37	chr22	50897976	50897976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagagcgcagcagcaccGccttggaccgcccgctgcgc	12	19	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:50897976G>A	uc003blh.2	-	27	3806	c.3611C>T	c.(3610-3612)GCG>GTG	p.A1204V	SBF1_uc011arx.1_Missense_Mutation_p.A868V	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1204	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CAGCAGCACCGCCTTGGACCG	0.637													A	50897976	G	A	50897976	3	1	19	1	0	0	0	0	1	0	0	0	13858	1087	38	1	2130	1	SBF1	22	50897976	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	4037748	50897976	406590	3239	17538											
SBF1	6305	broad.mit.edu	37	chr22	50900712	50900712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtaggcggctcttgctgCtgtccaggggcaggaggagg	19	8	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:50900712C>T	uc003blh.2	-	19	2513	c.2318G>A	c.(2317-2319)AGC>AAC	p.S773N	SBF1_uc011arx.1_Missense_Mutation_p.S437N|SBF1_uc003bli.2_Missense_Mutation_p.S774N	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	773					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCTCTTGCTGCTGTCCAGGGG	0.647													T	50900712	C	T	50900712	3	4	19	1	0	0	0	0	1	0	0	0	13858	797	28	2	3455	2	SBF1	22	50900712	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2736	50900712	403854	3240	17539											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51044095	51044095	+	Frame_Shift_Del	DEL	G	G	-													cgtggcttcaacatgcgcacGggggagcgcggtgtgtttcc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:51044094_51044094CG>C	uc003bmx.3	+	7	2060	c.1943_1943CG>C	c.(1942-1944)acgfs	p.T648fs	MAPK8IP2_uc003bmy.3_Frame_Shift_Del_p.T621fs|MAPK8IP2_uc011asc.2_Frame_Shift_Del_p.T3fs	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	649	SH3.				MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AACATGCGCACGGGGGAGCGC	0.647													-	51044095	G	-	51044095	7	5	19	1	0	1	0	1	0	0	0	0	9285	1103	39	0	2062	0	MAPK8IP2	22	51044095	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	143383	51044095	260471	3241	17540											
SHANK3	85358	broad.mit.edu	37	chr22	51160716	51160716	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagccgggggctccctggGcctgaagacgacaaaccaac	14	13	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:51160716G>A	uc003bne.1	+	22	4503	c.4503G>A	c.(4501-4503)GGG>GGA	p.G1501G	SHANK3_uc003bnf.1_Silent_p.G948G|SHANK3_uc010hbg.1_Silent_p.G683G	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1501										central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGCTCCCTGGGCCTGAAGACG	0.672													A	51160716	G	A	51160716	2	1	19	1	0	0	0	0	0	0	0	1	14266	1190	42	2		2	SHANK3	22	51160716	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	116621	51160716	143850	3242	17541											
CSF2RA	1438	broad.mit.edu	37	chrX	1409328	1409328	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggattaacgtctcgcaattActttctggttaacggaacca	8	9	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:1409328A>G	uc010nct.2	+	8	894	c.572A>G	c.(571-573)TAC>TGC	p.Y191C	CSF2RA_uc011mhb.1_Missense_Mutation_p.Y191C|CSF2RA_uc004cpq.2_Missense_Mutation_p.Y191C|CSF2RA_uc004cpn.2_Missense_Mutation_p.Y191C|CSF2RA_uc004cpo.2_Missense_Mutation_p.Y191C|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Missense_Mutation_p.Y58C|CSF2RA_uc004cpp.2_Missense_Mutation_p.Y191C|CSF2RA_uc010ncv.2_Missense_Mutation_p.Y191C|CSF2RA_uc004cpr.2_Missense_Mutation_p.Y191C	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	191	Extracellular (Potential).					extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCTCGCAATTACTTTCTGGTT	0.423													G	1409328	A	G	1409328	3	3	19	1	0	0	0	0	1	0	0	0	3934	391	14	3	590	3	CSF2RA	23	1409328	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08		1409328	153861232	3243	17542											
SFRS17A	8227	broad.mit.edu	37	chrX	1712692	1712692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccgacatcctgaaggtgCgcgcggccgagttcaagatc	12	13	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:1712692C>T	uc004cqa.2	+	2	533	c.337C>T	c.(337-339)CGC>TGC	p.R113C	SFRS17A_uc010ncx.1_Missense_Mutation_p.R113C|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	113					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGAAGGTGCGCGCGGCCGA	0.637													T	1712692	C	T	1712692	3	4	19	1	0	0	0	0	1	0	0	0	14173	768	27	1	339	1	SFRS17A	23	1712692	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	303364	1712692	153557868	3244	17543											
GYG2	8908	broad.mit.edu	37	chrX	2773049	2773049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accaggtgctgtccaatgtcGatgagctgtttgacagggga	14	8	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:2773049G>A	uc004cqs.1	+	6	715	c.433G>A	c.(433-435)GAT>AAT	p.D145N	GYG2_uc004cqt.1_Missense_Mutation_p.D114N|GYG2_uc004cqu.1_Missense_Mutation_p.D114N|GYG2_uc004cqv.1_5'UTR|GYG2_uc004cqw.1_Missense_Mutation_p.D105N|GYG2_uc004cqx.1_Missense_Mutation_p.D114N|GYG2_uc010ndc.1_5'UTR	NM_003918	NP_003909	O15488	GLYG2_HUMAN	glycogenin 2 isoform b	145					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			ovary(1)|kidney(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTCCAATGTCGATGAGCTGTT	0.473													A	2773049	G	A	2773049	3	1	19	1	0	0	0	0	1	0	0	0	6906	1058	37	1	451	1	GYG2	23	2773049	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1060357	2773049	152497511	3245	17544											
ARSE	415	broad.mit.edu	37	chrX	2854853	2854853	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaggaactcgtggtctgaGtgttgggctgtccccaggag	15	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:2854853G>A	uc004crc.3	-	10	1591	c.1341C>T	c.(1339-1341)CAC>CAT	p.H447H	ARSE_uc011mhi.1_Silent_p.H393H|ARSE_uc011mhh.1_Silent_p.H472H	NM_000047	NP_000038	P51690	ARSE_HUMAN	arylsulfatase E precursor	447					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGTGGTCTGAGTGTTGGGCTG	0.567													A	2854853	G	A	2854853	2	1	19	1	0	0	0	0	0	0	0	1	990	1020	36	4		4	ARSE	23	2854853	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	81804	2854853	152415707	3246	17545											
SHROOM2	357	broad.mit.edu	37	chrX	9900831	9900831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccaccatggagacctcgCgctccccctcgccccagttc	9	21	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:9900831C>T	uc004csu.1	+	6	3598	c.3508C>T	c.(3508-3510)CGC>TGC	p.R1170C	SHROOM2_uc004csv.2_Missense_Mutation_p.R5C|SHROOM2_uc011mic.1_Missense_Mutation_p.R5C|SHROOM2_uc004csw.1_Missense_Mutation_p.R5C	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	1170					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				GGAGACCTCGCGCTCCCCCTC	0.637													T	9900831	C	T	9900831	3	4	19	1	0	0	0	0	1	0	0	0	14294	768	27	1	3530	1	SHROOM2	23	9900831	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	7045978	9900831	145369729	3247	17546											
OFD1	8481	broad.mit.edu	37	chrX	13764477	13764477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgatcagtttgcagatgCttaccctcagcgtatcaagt	9	9	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:13764477C>T	uc004cvp.3	+	7	916	c.557C>T	c.(556-558)GCT>GTT	p.A186V	OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_Missense_Mutation_p.A46V|OFD1_uc010nen.2_Missense_Mutation_p.A185V|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.A185V|OFD1_uc004cvv.3_Missense_Mutation_p.A185V|OFD1_uc010neo.1_5'UTR	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	186					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding				0						TTTGCAGATGCTTACCCTCAG	0.373													T	13764477	C	T	13764477	3	4	19	1	0	0	0	0	1	0	0	0	10838	797	28	2	583	2	OFD1	23	13764477	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3863646	13764477	141506083	3248	17547											
OFD1	8481	broad.mit.edu	37	chrX	13778758	13778758	+	Frame_Shift_Del	DEL	G	G	-													gtgcagcctcgaggctccgcGggggcacttcctccagacgc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:13778758delG	uc004cvp.3	+	16	2538	c.2179delG	c.(2179-2181)GGGfs	p.G727fs	OFD1_uc004cvr.3_Frame_Shift_Del_p.G294fs|OFD1_uc011mil.1_Frame_Shift_Del_p.G294fs|OFD1_uc004cvq.3_Frame_Shift_Del_p.G587fs|OFD1_uc010nen.2_Frame_Shift_Del_p.G726fs|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Frame_Shift_Del_p.G686fs|OFD1_uc004cvv.3_Frame_Shift_Del_p.G686fs	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	727	Mediates the interaction with SDCCAG8.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding				0						GAGGCTCCGCGGGGGCACTTC	0.547													-	13778758	G	-	13778758	7	5	19	1	0	1	0	1	0	0	0	0	10838	1116	39	0	2241	0	OFD1	23	13778758	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	14281	13778758	141491802	3249	17548											
AP1S2	8905	broad.mit.edu	37	chrX	15864108	15864108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgtcctgatcctcaataGcacagcaaaaatacagacta	5	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:15864108G>A	uc004cxi.2	-	3	496	c.206C>T	c.(205-207)GCT>GTT	p.A69V	AP1S2_uc004cxh.2_Missense_Mutation_p.A69V|AP1S2_uc010nex.2_Missense_Mutation_p.A111V|AP1S2_uc011mis.1_Missense_Mutation_p.A111V|AP1S2_uc011mit.1_Missense_Mutation_p.A111V|AP1S2_uc011miu.1_Missense_Mutation_p.A111V	NM_003916	NP_003907	P56377	AP1S2_HUMAN	adaptor-related protein complex 1 sigma 2	69					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein transporter activity				0	Hepatocellular(33;0.183)					ATCCTCAATAGCACAGCAAAA	0.299													A	15864108	G	A	15864108	3	1	19	1	0	0	0	0	1	0	0	0	737	971	34	2	279	2	AP1S2	23	15864108	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2085350	15864108	139406452	3250	17549											
TXLNG	55787	broad.mit.edu	37	chrX	16859704	16859704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaagcggccatcaaagcgGcgaacagggatttagcaaca	11	10	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:16859704G>A	uc004cxq.1	+	10	1453	c.1402G>A	c.(1402-1404)GCG>ACG	p.A468T	TXLNG_uc010ney.1_Missense_Mutation_p.A336T	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	468					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1						catcaaagcggcGAACAGGGA	0.453													A	16859704	G	A	16859704	3	1	19	1	0	0	0	0	1	0	0	0	16786	1203	42	2	1440	2	TXLNG	23	16859704	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	995596	16859704	138410856	3251	17550											
NHS	4810	broad.mit.edu	37	chrX	17744154	17744154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcagctccacgtgcccctCgcagacctcagaaaccatcc	8	18	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:17744154C>T	uc004cxx.2	+	6	2203	c.1865C>T	c.(1864-1866)TCG>TTG	p.S622L	NHS_uc011mix.1_Missense_Mutation_p.S643L|NHS_uc004cxy.2_Missense_Mutation_p.S466L|NHS_uc004cxz.2_Missense_Mutation_p.S445L|NHS_uc004cya.2_Missense_Mutation_p.S345L	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	622						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					ACGTGCCCCTCGCAGACCTCA	0.572													T	17744154	C	T	17744154	3	4	19	1	0	0	0	0	1	0	0	0	10411	893	31	1	1992	1	NHS	23	17744154	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	884450	17744154	137526406	3252	17551											
BEND2	139105	broad.mit.edu	37	chrX	18234721	18234721	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtgtcatcagtgggaTtatctgctgtgacataagtg	13	6	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:18234721T>G	uc004cyj.3	-	2	312	c.158A>C	c.(157-159)AAT>ACT	p.N53T	BEND2_uc010nfb.2_Missense_Mutation_p.N53T	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	53										ovary(3)|kidney(1)|central_nervous_system(1)	5						ATCAGTGGGATTATCTGCTGT	0.398													G	18234721	T	G	18234721	3	3	19	1	0	0	0	0	1	0	0	0	1398	1493	52	5	2319	5	BEND2	23	18234721	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	490567	18234721	137035839	3253	17552											
CDKL5	6792	broad.mit.edu	37	chrX	18631319	18631319	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatgaaaataatgtgtcaActagagtttcttctctacca	5	9	3	2	rs55803460	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:18631319A>G	uc004cym.2	+	15	2453	c.2200A>G	c.(2200-2202)ACT>GCT	p.T734A	CDKL5_uc004cyn.2_Missense_Mutation_p.T734A	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	734				Missing (in Ref. 4; CAA61445).	neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					TAATGTGTCAACTAGAGTTTC	0.358													G	18631319	A	G	18631319	3	3	19	1	0	0	0	0	1	0	0	0	3157	43	2	3	2254	3	CDKL5	23	18631319	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	396598	18631319	136639241	3254	17553											
CNKSR2	22866	broad.mit.edu	37	chrX	21667109	21667109	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcctgtaatgaatgaaaaActacaccggctgagaattct	8	8	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:21667109A>G	uc004czx.1	+	21	2889	c.2853A>G	c.(2851-2853)AAA>AAG	p.K951K	CNKSR2_uc011mjo.1_Silent_p.K921K	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	951					regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						TGAATGAAAAACTACACCGGC	0.353													G	21667109	A	G	21667109	2	3	19	1	0	0	0	0	0	0	0	1	3607	40	2	3		3	CNKSR2	23	21667109	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	3035790	21667109	133603451	3255	17554											
ZFX	7543	broad.mit.edu	37	chrX	24228590	24228590	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgcaggggctttgtttacTcacaaaatggtgcataagga	11	7	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:24228590T>C	uc004dbf.2	+	9	1773	c.1515T>C	c.(1513-1515)ACT>ACC	p.T505T	ZFX_uc004dbe.2_3'UTR|ZFX_uc011mjv.1_Silent_p.T544T|ZFX_uc010nfz.2_Silent_p.T161T	NM_003410	NP_003401	P17010	ZFX_HUMAN	zinc finger protein, X-linked	505	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(2)	2						CTTTGTTTACTCACAAAATGG	0.463													C	24228590	T	C	24228590	2	2	19	1	0	0	0	0	0	0	0	1	17658	1538	54	3		3	ZFX	23	24228590	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2561481	24228590	131041970	3256	17555											
PDK3	5165	broad.mit.edu	37	chrX	24549780	24549780	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttttctcaataggctggaTttggttatggtttgccaatt	9	6	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:24549780T>C	uc004dbg.2	+	10	1199	c.970T>C	c.(970-972)TTT>CTT	p.F324L	PDK3_uc004dbh.2_Missense_Mutation_p.F324L	NM_005391	NP_005382	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase 3 isoform 2	324	ATP.|Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						ATAGGCTGGATTTGGTTATGG	0.358													C	24549780	T	C	24549780	3	2	19	1	0	0	0	0	1	0	0	0	11677	1493	52	3	1008	3	PDK3	23	24549780	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	321190	24549780	130720780	3257	17556											
PCYT1B	9468	broad.mit.edu	37	chrX	24608229	24608229	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acagtgtctgagagcttcgtAtctctcggcttcattcatca	8	11	5	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:24608229A>T	uc004dbi.2	-	4	630	c.397T>A	c.(397-399)TAC>AAC	p.Y133N	PCYT1B_uc004dbk.3_Missense_Mutation_p.Y133N|PCYT1B_uc004dbj.2_Missense_Mutation_p.Y115N	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	choline phosphate cytidylyltransferase 1 beta	133	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity				0					Choline(DB00122)	AGAGCTTCGTATCTCTCGGCT	0.453													T	24608229	A	T	24608229	3	4	19	1	0	0	0	0	1	0	0	0	11611	449	16	5	769	5	PCYT1B	23	24608229	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	58449	24608229	130662331	3258	17557											
NR0B1	190	broad.mit.edu	37	chrX	30326975	30326975	+	Frame_Shift_Del	DEL	C	C	-													aggagcggtcccaccacgcgCcccctggccgtgcctcgggc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:30326974_30326974GC>G	uc004dcf.4	-	0	522	c.507_507GC>C	c.(505-507)ggcfs	p.G169fs		NM_000475	NP_000466	P51843	NR0B1_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 1 (NR0B1), mRNA.	169	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|RNA binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CCCACCACGCGCCCCCTGGCC	0.682											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	30326975	C	-	30326975	7	5	19	1	0	1	0	1	0	0	0	0	10613	739	26	0	914	0	NR0B1	23	30326975	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	5718746	30326975	124943585	3259	17558											
GK	2710	broad.mit.edu	37	chrX	30686191	30686191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtgtatagagaaaacatGtgagaaacttggacagctca	11	5	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:30686191G>A	uc004dch.3	+	3	394	c.215G>A	c.(214-216)TGT>TAT	p.C72Y	GK_uc010ngj.2_Missense_Mutation_p.C72Y|GK_uc004dci.3_Missense_Mutation_p.C72Y|GK_uc011mjz.1_Translation_Start_Site|GK_uc011mka.1_Intron|GK_uc010ngk.2_Intron	NM_203391	NP_976325	P32189	GLPK_HUMAN	glycerol kinase isoform a	72					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)	1						GAGAAAACATGTGAGAAACTT	0.328													A	30686191	G	A	30686191	3	1	19	1	0	0	0	0	1	0	0	0	6420	1377	48	4	225	4	GK	23	30686191	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	359216	30686191	124584369	3260	17559											
DMD	1756	broad.mit.edu	37	chrX	32613901	32613901	+	Silent	SNP	T	T	C													tgttcttccaaagcagcagtTgcgtgatctccactagattc					rs144372300		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:32613901T>C	uc004dda.1	-	13	1819	c.1575A>G	c.(1573-1575)GCA>GCG	p.A525A	DMD_uc004dcz.2_Silent_p.A402A|DMD_uc004dcy.1_Silent_p.A521A|DMD_uc004ddb.1_Silent_p.A517A|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Silent_p.A517A|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	525	Spectrin 2.		Missing (in BMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAGCAGCAGTTGCGTGATCTC	0.348													C	32613901	T	C	32613901	2	2	19	1	0	0	0	0	0	0	0	1	4580	1799	63	3		3	DMD	23	32613901	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1927710	32613901	122656659	3261	17560	62	2									
DMD	1756	broad.mit.edu	37	chrX	32613904	32613904	+	Silent	SNP	G	G	A													tcttccaaagcagcagttgcGtgatctccactagattcatc							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:32613904G>A	uc004dda.1	-	13	1816	c.1572C>T	c.(1570-1572)CAC>CAT	p.H524H	DMD_uc004dcz.2_Silent_p.H401H|DMD_uc004dcy.1_Silent_p.H520H|DMD_uc004ddb.1_Silent_p.H516H|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Silent_p.H516H|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	524	Spectrin 2.		Missing (in BMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAGCAGTTGCGTGATCTCCAC	0.348													A	32613904	G	A	32613904	2	1	19	1	0	0	0	0	0	0	0	1	4580	1136	40	1		1	DMD	23	32613904	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3	32613904	122656656	3262	17561	62	2									
CXorf22	170063	broad.mit.edu	37	chrX	35969405	35969405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaaattaaacatgcacgtGtatacaataatagcccagag	6	8	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:35969405G>A	uc004ddj.2	+	5	873	c.814G>A	c.(814-816)GTA>ATA	p.V272I	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	272										large_intestine(1)|lung(1)|ovary(1)	3						ACATGCACGTGTATACAATAA	0.413													A	35969405	G	A	35969405	3	1	19	1	0	0	0	0	1	0	0	0	4102	1377	48	4	832	4	CXorf22	23	35969405	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3355501	35969405	119301155	3263	17562											
FAM47C	442444	broad.mit.edu	37	chrX	37027011	37027011	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacaactgacgaacccacGgagcctggtaaatacccctg	9	13	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:37027011G>A	uc004ddl.1	+	1	542	c.528G>A	c.(526-528)ACG>ACA	p.T176T		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	176										ovary(3)	3						ACGAACCCACGGAGCCTGGTA	0.612													A	37027011	G	A	37027011	2	1	19	1	0	0	0	0	0	0	0	1	5571	1103	39	1		1	FAM47C	23	37027011	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1057606	37027011	118243549	3264	17563											
FAM47C	442444	broad.mit.edu	37	chrX	37027801	37027801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcggatctcatctccgcCcggaacctcctgagactgga	10	16	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:37027801C>T	uc004ddl.1	+	1	1332	c.1318C>T	c.(1318-1320)CCG>TCG	p.P440S		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	440										ovary(3)	3						TCATCTCCGCCCGGAACCTCC	0.607													T	37027801	C	T	37027801	3	4	19	1	0	0	0	0	1	0	0	0	5571	623	22	4	1320	4	FAM47C	23	37027801	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	790	37027801	118242759	3265	17564											
CXorf27	25763	broad.mit.edu	37	chrX	37850373	37850373	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagtggacaacaaccgtgAgccccacagcgctgagagtg	13	11	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:37850373A>G	uc004ddt.3	+	1	304	c.281A>G	c.(280-282)GAG>GGG	p.E94G		NM_012274	NP_036406	O75409	HYPM_HUMAN	Huntingtin interacting protein M	94							DNA binding			central_nervous_system(1)	1						AACAACCGTGAGCCCCACAGC	0.522													G	37850373	A	G	37850373	3	3	19	1	0	0	0	0	1	0	0	0	4105	304	11	3	283	3	CXorf27	23	37850373	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	822572	37850373	117420187	3266	17565											
RPGR	6103	broad.mit.edu	37	chrX	38144857	38144857	+	Frame_Shift_Del	DEL	T	T	-													ttttggaacctgatggcccgTtttttaaaagtcgttttgac					rs12687163	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:38144856_38144856GT>G	uc004ded.1	-	14	3564	c.3396_3396AC>C	c.(3394-3396)aacfs	p.N1132fs	RPGR_uc004deb.3_Intron|RPGR_uc004dea.3_Intron|RPGR_uc004dec.3_Intron	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA.	0					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTGATGGCCCGTTTTTTAAAA	0.378													-	38144857	T	-	38144857	7	5	19	1	0	1	0	1	0	0	0	0	13548	1725	60	0	626	0	RPGR	23	38144857	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	294484	38144857	117125703	3267	17566											
OTC	5009	broad.mit.edu	37	chrX	38268015	38268015	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttatgagccggatgctagTgtaaccaagttggcagagca	14	7	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:38268015T>C	uc004def.3	+	7	898	c.684T>C	c.(682-684)AGT>AGC	p.S228S		NM_000531	NP_000522	P00480	OTC_HUMAN	ornithine carbamoyltransferase precursor	228					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			ovary(1)|breast(1)	2					L-Citrulline(DB00155)|L-Ornithine(DB00129)	CGGATGCTAGTGTAACCAAGT	0.323													C	38268015	T	C	38268015	2	2	19	1	0	0	0	0	0	0	0	1	11301	1693	59	3		3	OTC	23	38268015	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	123158	38268015	117002545	3268	17567											
BCOR	54880	broad.mit.edu	37	chrX	39923086	39923087	+	Frame_Shift_Ins	INS	-	-	T													aggtgcagcaagtggcgttgINSttttttaggatggagccctg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:39923086_39923087insT	uc004den.3	-	8	3913_3914	c.3621_3622insA	c.(3619-3624)AAACAAfs	p.K1207fs	BCOR_uc004dep.3_Frame_Shift_Ins_p.K1173fs|BCOR_uc004deo.3_Frame_Shift_Ins_p.K1155fs|BCOR_uc010nhb.2_5'Flank|BCOR_uc004dem.3_Frame_Shift_Ins_p.K1173fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	1207_1208					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						AAGTGGCGTTGTTTTTTAGGAT	0.505													T	39923087	-	T	39923086	7	5	19	1	0	1	1	0	0	0	0	0	1386	1386	48	0	1677	0	BCOR	23	39923086	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	1655071	39923086	115347474	3269	17568	63	2									
BCOR	54880	broad.mit.edu	37	chrX	39923087	39923088	+	Frame_Shift_Ins	INS	-	-	T													ggtgcagcaagtggcgttgtINStttttaggatggagccctgt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:39923086_39923087G>GT	uc004den.4	-	7	3913_3914	c.3621_3622C>AC	c.(3619-3624)aaacaafs	p.K1207fs	BCOR_uc004dep.4_Frame_Shift_Ins_p.K1173fs|BCOR_uc004deo.4_Frame_Shift_Ins_p.K1155fs|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Frame_Shift_Ins_p.K1173fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1207					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.K1173fs*31(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AAGTGGCGTTGTTTTTTAGGAT	0.505			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						T	39923088	-	T	39923087	7	5	19	1	0	1	1	0	0	0	0	0	1386	1722	60	0	1678	0	BCOR	23	39923087	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	1	39923087	115347473	3270	17569	63	2									
BCOR	54880	broad.mit.edu	37	chrX	39932568	39932568	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgggtgagggtagacaggTcctttgccatgtaaggagag	16	6	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:39932568T>C	uc004den.3	-	4	2323	c.2031A>G	c.(2029-2031)GGA>GGG	p.G677G	BCOR_uc004dep.3_Silent_p.G677G|BCOR_uc004deo.3_Silent_p.G677G|BCOR_uc004dem.3_Silent_p.G677G|BCOR_uc004deq.3_Silent_p.G677G	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	677	Pro-rich.				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						GGTAGACAGGTCCTTTGCCAT	0.587													C	39932568	T	C	39932568	2	2	19	1	0	0	0	0	0	0	0	1	1386	1654	58	3		3	BCOR	23	39932568	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	9481	39932568	115337992	3271	17570											
BCOR	54880	broad.mit.edu	37	chrX	39934153	39934153	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtattccaggcggtgttttgTatatagcactgaagccattt	10	7	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:39934153T>C	uc004den.3	-	4	738	c.446A>G	c.(445-447)TAC>TGC	p.Y149C	BCOR_uc004dep.3_Missense_Mutation_p.Y149C|BCOR_uc004deo.3_Missense_Mutation_p.Y149C|BCOR_uc004dem.3_Missense_Mutation_p.Y149C|BCOR_uc004deq.3_Missense_Mutation_p.Y149C	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	149					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						CGGTGTTTTGTATATAGCACT	0.507													C	39934153	T	C	39934153	3	2	19	1	0	0	0	0	1	0	0	0	1386	1638	57	3	4869	3	BCOR	23	39934153	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	1585	39934153	115336407	3272	17571											
ATP6AP2	10159	broad.mit.edu	37	chrX	40456500	40456500	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttcttactcttaaatttcaGgcagttccttttagtcttga	6	8	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:40456500G>T	uc004det.2	+	4	403	c.301_splice	c.e4-1	p.A101_splice	ATP6AP2_uc010nhc.2_Splice_Site|ATP6AP2_uc011mkl.1_Splice_Site_p.A25_splice|ATP6AP2_uc011mkm.1_Intron|ATP6AP2_uc011mkn.1_Intron|ATP6AP2_uc004deu.1_5'Flank	NM_005765	NP_005756	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory						angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity				0						TTAAATTTCAGGCAGTTCCTT	0.363													T	40456500	G	T	40456500	5	4	19	1	0	0	0	0	0	0	1	0	1167	1014	35	5	314	5	ATP6AP2	23	40456500	Splice_Site	SNP	G	TCGA-BR-4361-01A-01D-1158-08	522347	40456500	114814060	3273	17572											
USP9X	8239	broad.mit.edu	37	chrX	41000617	41000617	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taataaggtgatatctagtgTatcatactatactcatcgac	6	7	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:41000617T>C	uc004dfb.2	+	9	1727	c.1094T>C	c.(1093-1095)GTA>GCA	p.V365A	USP9X_uc004dfc.2_Missense_Mutation_p.V365A	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	365					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						ATATCTAGTGTATCATACTAT	0.358													C	41000617	T	C	41000617	3	2	19	1	0	0	0	0	1	0	0	0	17087	1638	57	3	1124	3	USP9X	23	41000617	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	544117	41000617	114269943	3274	17573											
USP9X	8239	broad.mit.edu	37	chrX	41064672	41064672	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attggtgtcctaagacacctTcaggtcatctttggtcattt	8	9	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:41064672T>C	uc004dfb.2	+	32	5574	c.4941T>C	c.(4939-4941)CTT>CTC	p.L1647L	USP9X_uc004dfc.2_Silent_p.L1647L	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1647					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						TAAGACACCTTCAGGTCATCT	0.383													C	41064672	T	C	41064672	2	2	19	1	0	0	0	0	0	0	0	1	17087	1770	62	3		3	USP9X	23	41064672	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	64055	41064672	114205888	3275	17574											
DDX3X	1654	broad.mit.edu	37	chrX	41201791	41201791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attacgatggcattggcagcCgtggtgacagaagtggcttt	14	7	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:41201791C>T	uc004dfe.2	+	5	1183	c.328C>T	c.(328-330)CGT>TGT	p.R110C	DDX3X_uc010nhf.1_Missense_Mutation_p.R94C|DDX3X_uc004dff.2_Missense_Mutation_p.R110C|DDX3X_uc011mkq.1_Missense_Mutation_p.R94C|DDX3X_uc011mkr.1_Missense_Mutation_p.R110C|DDX3X_uc011mks.1_Missense_Mutation_p.R110C|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	110					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						CATTGGCAGCCGTGGTGACAG	0.433										HNSCC(61;0.18)			T	41201791	C	T	41201791	3	4	19	1	0	0	0	0	1	0	0	0	4358	652	23	1	346	1	DDX3X	23	41201791	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	137119	41201791	114068769	3276	17575											
ELK1	2002	broad.mit.edu	37	chrX	47497513	47497513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttctgggggcaaagcccgGcccaaacccggctccacatt	10	16	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:47497513G>A	uc004dik.3	-	5	1045	c.723C>T	c.(721-723)GGC>GGT	p.G241G	ELK1_uc010nhv.2_Silent_p.G241G|ELK1_uc010nhw.2_Silent_p.G131G|ELK1_uc004dil.3_Intron	NM_001114123	NP_001107595	P19419	ELK1_HUMAN	ELK1 protein	241					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						GCAAAGCCCGGCCCAAACCCG	0.592													A	47497513	G	A	47497513	2	1	19	1	0	0	0	0	0	0	0	1	5059	1190	42	2		2	ELK1	23	47497513	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	6295722	47497513	107773047	3277	17576											
ELK1	2002	broad.mit.edu	37	chrX	47497563	47497563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgatttcaggtttggggcctCgggcggggtcaggatgacct	17	9	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:47497563C>T	uc004dik.3	-	5	995	c.673G>A	c.(673-675)GAG>AAG	p.E225K	ELK1_uc010nhv.2_Missense_Mutation_p.E225K|ELK1_uc010nhw.2_Missense_Mutation_p.E115K|ELK1_uc004dil.3_Intron	NM_001114123	NP_001107595	P19419	ELK1_HUMAN	ELK1 protein	225					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						TTTGGGGCCTCGGGCGGGGTC	0.572													T	47497563	C	T	47497563	3	4	19	1	0	0	0	0	1	0	0	0	5059	893	31	1	625	1	ELK1	23	47497563	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	50	47497563	107772997	3278	17577											
ZNF81	347344	broad.mit.edu	37	chrX	47774714	47774714	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggataaaactattgggcaTggtcaagtttttacccagaa	9	7	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:47774714T>C	uc010nhy.1	+	6	1037	c.669T>C	c.(667-669)CAT>CAC	p.H223H		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	223						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)				CTATTGGGCATGGTCAAGTTT	0.358													C	47774714	T	C	47774714	2	2	19	1	0	0	0	0	0	0	0	1	18171	1461	51	3		3	ZNF81	23	47774714	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	277151	47774714	107495846	3279	17578											
SUV39H1	6839	broad.mit.edu	37	chrX	48558747	48558747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcgcagccatctgggacGcatcactgtagagaatgagg	13	10	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:48558747G>A	uc004dkn.2	+	3	476	c.431G>A	c.(430-432)CGC>CAC	p.R144H	SUV39H1_uc011mmf.1_Missense_Mutation_p.R155H|SUV39H1_uc011mmg.1_Intron	NM_003173	NP_003164	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1	144					cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding				0						CATCTGGGACGCATCACTGTA	0.617													A	48558747	G	A	48558747	3	1	19	1	0	0	0	0	1	0	0	0	15409	1087	38	1	441	1	SUV39H1	23	48558747	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	784033	48558747	106711813	3280	17579											
GATA1	2623	broad.mit.edu	37	chrX	48649665	48649665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcttcctccactgcccCgagcacagccaccgctgcag	9	19	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:48649665C>T	uc004dkq.3	+	2	240	c.149C>T	c.(148-150)CCG>CTG	p.P50L		NM_002049	NP_002040	P15976	GATA1_HUMAN	GATA binding protein 1	50					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M1fs(7)|p.P50fs*87(3)|p.D42_D74>(3)|p.P38fs*14(2)|p.T48fs*11(2)|p.E39fs*83(2)|p.S51fs*17(1)|p.S47fs*9(1)|p.P50fs*94(1)|p.A45fs*15(1)|p.A45fs*85(1)|p.P50fs*6(1)		haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						TCCACTGCCCCGAGCACAGCC	0.602			Mis|F		megakaryoblastic leukemia of Downs Syndrome								T	48649665	C	T	48649665	3	4	19	1	0	0	0	0	1	0	0	0	6253	652	23	1	151	1	GATA1	23	48649665	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	90918	48649665	106620895	3281	17580											
HDAC6	10013	broad.mit.edu	37	chrX	48673824	48673824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcgccctggctgaaggcGtcagtgcttcgctccacacc	11	17	1	1	rs147989097		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:48673824G>A	uc011mmi.1	+	15	1278	c.1183G>A	c.(1183-1185)GTC>ATC	p.V395I	HDAC6_uc004dks.1_Missense_Mutation_p.V395I|HDAC6_uc010nig.1_Missense_Mutation_p.V243I|HDAC6_uc004dkt.1_Missense_Mutation_p.V395I|HDAC6_uc011mmk.1_Missense_Mutation_p.V376I|HDAC6_uc004dkv.1_Missense_Mutation_p.V43I|HDAC6_uc004dkw.1_Missense_Mutation_p.V43I	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	395	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4					Vorinostat(DB02546)	GGCTGAAGGCGTCAGTGCTTC	0.607													A	48673824	G	A	48673824	3	1	19	1	0	0	0	0	1	0	0	0	7011	1145	40	1	1237	1	HDAC6	23	48673824	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	24159	48673824	106596736	3282	17581											
TFE3	7030	broad.mit.edu	37	chrX	48887952	48887953	+	Frame_Shift_Ins	INS	-	-	C													gggagcattctgggcaggtcINSccccccctacatggaacgtt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:48887951_48887952T>TC	uc004dmb.3	-	9	1683_1684	c.1445_1446A>GA	c.(1444-1446)ggafs	p.G482fs	TFE3_uc004dmc.3_Frame_Shift_Ins_p.G377fs	NM_006521	NP_006512	P19532	TFE3_HUMAN	Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA.	482					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"								C	48887953	-	C	48887952	7	5	19	1	0	1	1	0	0	0	0	0	15797	855	30	0	286	0	TFE3	23	48887952	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	214128	48887952	106382608	3283	17582											
CCDC22	28952	broad.mit.edu	37	chrX	49093645	49093645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgtgtgatcaaccctgCggtgggctctggcctcagcc	13	15	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:49093645C>T	uc004dnd.1	+	2	299	c.143C>T	c.(142-144)GCG>GTG	p.A48V	CCDC22_uc011mna.1_Missense_Mutation_p.A48V|CCDC22_uc004dnc.1_RNA	NM_014008	NP_054727	O60826	CCD22_HUMAN	coiled-coil domain containing 22	48										central_nervous_system(1)	1						ATCAACCCTGCGGTGGGCTCT	0.637													T	49093645	C	T	49093645	3	4	19	1	0	0	0	0	1	0	0	0	2797	768	27	1	149	1	CCDC22	23	49093645	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	205693	49093645	106176915	3284	17583											
AKAP4	8852	broad.mit.edu	37	chrX	49958505	49958505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactcctctccagtgccacGcatttctgcagctgtcagtt	9	14	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:49958505G>A	uc004dow.1	-	5	983	c.859C>T	c.(859-861)CGT>TGT	p.R287C	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.R109C|AKAP4_uc004dou.1_Missense_Mutation_p.R278C	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	287					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					CCAGTGCCACGCATTTCTGCA	0.493													A	49958505	G	A	49958505	3	1	19	1	0	0	0	0	1	0	0	0	453	1087	38	1	1713	1	AKAP4	23	49958505	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	864860	49958505	105312055	3285	17584											
SHROOM4	57477	broad.mit.edu	37	chrX	50345634	50345635	+	Splice_Site	INS	-	-	T													cacatcaaaaaactttacctINSttttttgagccagttcatgg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:50345633_50345634C>CT	uc004dpe.2	-	7	3968	c.3942_splice	c.e7+1	p.K1314_splice	SHROOM4_uc004dpd.3_Splice_Site	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1314	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.K1314fs*23(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AAAACTTTACCTTTTTTTGAGC	0.45													T	50345635	-	T	50345634	8	5	19	1	0	1	1	0	0	0	1	0	14296	1623	56	0	552	0	SHROOM4	23	50345634	Splice_Site	INS	-	TCGA-BR-4361-01A-01D-1158-08	387129	50345634	104924926	3286	17585											
GPR173	54328	broad.mit.edu	37	chrX	53106197	53106197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcccaccaccgcttctacGccaagcgcatgacactctgg	8	18	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:53106197G>A	uc004dru.2	+	2	652	c.394G>A	c.(394-396)GCC>ACC	p.A132T		NM_018969	NP_061842	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	132	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						CCGCTTCTACGCCAAGCGCAT	0.597													A	53106197	G	A	53106197	3	1	19	1	0	0	0	0	1	0	0	0	6671	1087	38	1	396	1	GPR173	23	53106197	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2760563	53106197	102164363	3287	17586											
KDM5C	8242	broad.mit.edu	37	chrX	53227772	53227772	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagctcactattaggaaAcctccgctcacgggcttcag	9	14	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:53227772A>G	uc004drz.2	-	17	2949	c.2416T>C	c.(2416-2418)TTT>CTT	p.F806L	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.F739L|KDM5C_uc004dsa.2_Missense_Mutation_p.F805L	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	806					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						CTATTAGGAAACCTCCGCTCA	0.547			N|F|S		clear cell renal carcinoma								G	53227772	A	G	53227772	3	3	19	1	0	0	0	0	1	0	0	0	8135	43	2	3	2404	3	KDM5C	23	53227772	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	121575	53227772	102042788	3288	17587											
HUWE1	10075	broad.mit.edu	37	chrX	53630414	53630414	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagcttgctcaaaacactcaGacccaattgagagccccact	6	15	2	2	rs144396302	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:53630414G>A	uc004dsp.2	-	27	3193	c.2791C>T	c.(2791-2793)CTG>TTG	p.L931L		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	931					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						AAAACACTCAGACCCAATTGA	0.458													A	53630414	G	A	53630414	2	1	19	1	0	0	0	0	0	0	0	1	7461	933	33	4		4	HUWE1	23	53630414	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	402642	53630414	101640146	3289	17588											
WNK3	65267	broad.mit.edu	37	chrX	54224914	54224914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacccactgtactggatacCccgcccccgccacagcatta	6	19	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:54224914C>T	uc004dtd.1	-	23	5514	c.5075G>A	c.(5074-5076)GGG>GAG	p.G1692E	WNK3_uc004dtc.1_Missense_Mutation_p.G1749E|uc004dtb.1_5'Flank	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1692					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						TACTGGATACCCCGCCCCCGC	0.498													T	54224914	C	T	54224914	3	4	19	1	0	0	0	0	1	0	0	0	17376	623	22	4	160	4	WNK3	23	54224914	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	594500	54224914	101045646	3290	17589											
WNK3	65267	broad.mit.edu	37	chrX	54263437	54263437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgattcatcatcactgCtcattggggaagatggcgaa	10	8	5	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:54263437C>T	uc004dtd.1	-	20	4860	c.4421G>A	c.(4420-4422)AGC>AAC	p.S1474N	WNK3_uc004dtc.1_Missense_Mutation_p.S1521N	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1474					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						ATCATCACTGCTCATTGGGGA	0.423													T	54263437	C	T	54263437	3	4	19	1	0	0	0	0	1	0	0	0	17376	797	28	2	860	2	WNK3	23	54263437	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	38523	54263437	101007123	3291	17590											
WNK3	65267	broad.mit.edu	37	chrX	54319444	54319444	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaaaggcaaaatctgcggCtgagtcagctttgaatgctt	10	9	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:54319444C>T	uc004dtd.1	-	10	2353	c.1914G>A	c.(1912-1914)CAG>CAA	p.Q638Q	WNK3_uc004dtc.1_Silent_p.Q638Q	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	638					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						AAATCTGCGGCTGAGTCAGCT	0.378													T	54319444	C	T	54319444	2	4	19	1	0	0	0	0	0	0	0	1	17376	796	28	2		2	WNK3	23	54319444	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	56007	54319444	100951116	3292	17591											
APEX2	27301	broad.mit.edu	37	chrX	55029534	55029534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagaagccctcctggcgGcaggcaggtactgcaagcct	14	13	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:55029534G>A	uc004dtz.2	+	4	638	c.562G>A	c.(562-564)GCA>ACA	p.A188T	APEX2_uc011mom.1_Missense_Mutation_p.A17T	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN	apurinic/apyrimidinic endonuclease 2	188					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)	1						CCTCCTGGCGGCAGGCAGGTA	0.582								Other_BER_factors					A	55029534	G	A	55029534	3	1	19	1	0	0	0	0	1	0	0	0	770	1203	42	2	576	2	APEX2	23	55029534	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	710090	55029534	100241026	3293	17592											
USP51	158880	broad.mit.edu	37	chrX	55514918	55514918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacccaggccgggatctgCgccgggatccacgccaggcc	15	16	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:55514918C>T	uc004dun.1	-	2	534	c.455G>A	c.(454-456)CGC>CAC	p.R152H	USP51_uc011moo.1_Intron	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	152					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						CCGGGATCTGCGCCGGGATCC	0.473													T	55514918	C	T	55514918	3	4	19	1	0	0	0	0	1	0	0	0	17080	768	27	1	1684	1	USP51	23	55514918	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	485384	55514918	99755642	3294	17593											
UBQLN2	29978	broad.mit.edu	37	chrX	56591874	56591874	+	Frame_Shift_Del	DEL	C	C	-													aggacccactggccctgcagCcccccctggctccaccggct							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:56591874delC	uc004dus.2	+	1	1803	c.1568delC	c.(1567-1569)GCCfs	p.A523fs	UBQLN2_uc011moq.1_Intron	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	523	11.|12 X 3 AA tandem repeats of P-X-X.					cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2						GGCCCTGCAGCCCCCCCTGGC	0.642													-	56591874	C	-	56591874	7	5	19	1	0	1	0	1	0	0	0	0	16894	739	26	0	1570	0	UBQLN2	23	56591874	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	1076956	56591874	98678686	3295	17594											
FAAH2	158584	broad.mit.edu	37	chrX	57337164	57337164	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagctttccagctacaaggTactattcttttatttttggc	7	8	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:57337164T>C	uc004dvc.2	+	3	561	c.412_splice	c.e3+2	p.G138_splice		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2							integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			ovary(3)	3						AGCTACAAGGTACTATTCTTT	0.373										HNSCC(52;0.14)			C	57337164	T	C	57337164	5	2	19	1	0	0	0	0	0	0	1	0	5354	1652	57	3	424	3	FAAH2	23	57337164	Splice_Site	SNP	T	TCGA-BR-4361-01A-01D-1158-08	745290	57337164	97933396	3296	17595											
SPIN4	139886	broad.mit.edu	37	chrX	62570001	62570001	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaatatcatcatcaaacTtaatgaagtaaacagatggc	7	6	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:62570001T>G	uc004dvf.2	-	1	1218	c.698A>C	c.(697-699)AAG>ACG	p.K233T		NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN	spindlin family, member 4	233					gamete generation					ovary(1)|lung(1)	2						ATCATCAAACTTAATGAAGTA	0.398													G	62570001	T	G	62570001	3	3	19	1	0	0	0	0	1	0	0	0	15055	1609	56	5	55	5	SPIN4	23	62570001	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	5232837	62570001	92700559	3297	17596											
HEPH	9843	broad.mit.edu	37	chrX	65415012	65415012	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgcctcccagccattcaGcatgcagccccatggggtct	10	17	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:65415012G>T	uc011moz.1	+	9	1511	c.1451G>T	c.(1450-1452)AGC>ATC	p.S484I	HEPH_uc004dwn.2_Missense_Mutation_p.S484I|HEPH_uc004dwo.2_Missense_Mutation_p.S214I|HEPH_uc010nkr.2_Missense_Mutation_p.S484I|HEPH_uc011mpa.1_Missense_Mutation_p.S484I	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	481	Extracellular (Potential).|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						CAGCCATTCAGCATGCAGCCC	0.522													T	65415012	G	T	65415012	3	4	19	1	0	0	0	0	1	0	0	0	7054	971	34	5	1638	5	HEPH	23	65415012	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2845011	65415012	89855548	3298	17597											
OPHN1	4983	broad.mit.edu	37	chrX	67333078	67333078	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgacaggttcagaaagAttcctgaaatgaatgaaaat	9	5	2	6			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:67333078A>T	uc004dww.3	-	17	1659	c.1365T>A	c.(1363-1365)AAT>AAA	p.N455K	OPHN1_uc011mpg.1_Missense_Mutation_p.N455K	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	455	Rho-GAP.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2						GTTCAGAAAGATTCCTGAAAT	0.413													T	67333078	A	T	67333078	3	4	19	1	0	0	0	0	1	0	0	0	10875	330	12	5	1075	5	OPHN1	23	67333078	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1918066	67333078	87937482	3299	17598											
KIF4A	24137	broad.mit.edu	37	chrX	69521784	69521784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaagactgttttggttgCcttggatactgtttcctgtt	11	6	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:69521784C>T	uc004dyg.2	+	6	678	c.551C>T	c.(550-552)GCC>GTC	p.A184V	KIF4A_uc010nkw.2_Missense_Mutation_p.A184V|KIF4A_uc004dyf.1_Missense_Mutation_p.A184V	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	184	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4						GTTTTGGTTGCCTTGGATACT	0.438													T	69521784	C	T	69521784	3	4	19	1	0	0	0	0	1	0	0	0	8303	739	26	2	569	2	KIF4A	23	69521784	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2188706	69521784	85748776	3300	17599											
CITED1	4435	broad.mit.edu	37	chrX	71522015	71522015	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catttgaggctaccccagggTagtgcagaatggccactgct	12	11	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:71522015T>C	uc011mqd.1	-	3	295	c.140A>G	c.(139-141)TAC>TGC	p.Y47C	CITED1_uc011mqc.1_Missense_Mutation_p.Y73C|CITED1_uc004eas.2_Missense_Mutation_p.Y47C|CITED1_uc004eat.2_Missense_Mutation_p.Y47C	NM_001144887	NP_001138359	Q99966	CITE1_HUMAN	melanocyte-specific gene 1 isoform 1	47					apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding				0	Renal(35;0.156)					TACCCCAGGGTAGTGCAGAAT	0.552													C	71522015	T	C	71522015	3	2	19	1	0	0	0	0	1	0	0	0	3439	1638	57	3	445	3	CITED1	23	71522015	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2000231	71522015	83748545	3301	17600											
NAP1L2	4674	broad.mit.edu	37	chrX	72433979	72433979	+	Frame_Shift_Del	DEL	T	T	-													tggccgctctagtttgaagcTttttaagggctaacacacgg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:72433978_72433978CT>C	uc004ebi.3	-	0	733	c.351_351AG>G	c.(349-351)aagfs	p.K117fs		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	117					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TAGTTTGAAGCTTTTTAAGGG	0.383													-	72433979	T	-	72433979	7	5	19	1	0	1	0	1	0	0	0	0	10157	1609	56	0	1036	0	NAP1L2	23	72433979	Frame_Shift_Del	DEL	T	TCGA-BR-4361-01A-01D-1158-08	911964	72433979	82836581	3302	17601											
KIAA2022	340533	broad.mit.edu	37	chrX	73960658	73960658	+	Frame_Shift_Del	DEL	C	C	-													atatggtgttggtttggcttCccccacggccaatgccaatt							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:73960657_73960657TC>T	uc004eby.3	-	2	4352	c.3735_3735GA>A	c.(3733-3735)ggafs	p.G1245fs		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1245					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGGTTTGGCTTCCCCCACGGC	0.498													-	73960658	C	-	73960658	7	5	19	1	0	1	0	1	0	0	0	0	8269	855	30	0	824	0	KIAA2022	23	73960658	Frame_Shift_Del	DEL	C	TCGA-BR-4361-01A-01D-1158-08	1526679	73960658	81309902	3303	17602											
KIAA2022	340533	broad.mit.edu	37	chrX	73961874	73961874	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgaggctgccttcattttGctctggagaatggtggctga	14	7	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:73961874G>T	uc004eby.2	-	3	3135	c.2518C>A	c.(2518-2520)CAA>AAA	p.Q840K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	840					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						CCTTCATTTTGCTCTGGAGAA	0.473													T	73961874	G	T	73961874	3	4	19	1	0	0	0	0	1	0	0	0	8269	1328	46	5	2040	5	KIAA2022	23	73961874	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1216	73961874	81308686	3304	17603											
KIAA2022	340533	broad.mit.edu	37	chrX	73964061	73964061	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcattgggaagtgaccatgTgttcaggccttttgcaatgc	11	8	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:73964061T>C	uc004eby.2	-	3	948	c.331A>G	c.(331-333)ACA>GCA	p.T111A		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	111					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						AGTGACCATGTGTTCAGGCCT	0.512													C	73964061	T	C	73964061	3	2	19	1	0	0	0	0	1	0	0	0	8269	1696	59	3	4227	3	KIAA2022	23	73964061	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2187	73964061	81306499	3305	17604											
ABCB7	22	broad.mit.edu	37	chrX	74318830	74318830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactctagctcgtagatctgGcctgtctttgggccacacat	9	12	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:74318830G>A	uc004eca.2	-	4	425	c.400C>T	c.(400-402)CCA>TCA	p.P134S	ABCB7_uc004ebz.2_Missense_Mutation_p.P135S|ABCB7_uc011mqn.1_Missense_Mutation_p.P108S|ABCB7_uc010nls.2_Intron|ABCB7_uc010nlt.2_Intron	NM_004299	NP_004290	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B, member 7	134					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			ovary(1)	1						CGTAGATCTGGCCTGTCTTTG	0.378													A	74318830	G	A	74318830	3	1	19	1	0	0	0	0	1	0	0	0	46	1203	42	2	1910	2	ABCB7	23	74318830	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	354769	74318830	80951730	3306	17605											
ATRX	546	broad.mit.edu	37	chrX	76875932	76875932	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgatcgtatagaattcaTagctttagaaacagcagatg	8	7	1	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:76875932T>C	uc004ecp.3	-	20	5435	c.5203A>G	c.(5203-5205)ATG>GTG	p.M1735V	ATRX_uc004ecq.3_Missense_Mutation_p.M1697V|ATRX_uc004eco.3_Missense_Mutation_p.M1520V	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1735	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	ATAGAATTCATAGCTTTAGAA	0.318			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76875932	T	C	76875932	3	2	19	1	0	0	0	0	1	0	0	0	1208	1406	49	3	2339	3	ATRX	23	76875932	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	2557102	76875932	78394628	3307	17606											
LPAR4	2846	broad.mit.edu	37	chrX	78010974	78010974	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagacttatttatccaAgatcacaatatttattgaag	6	6	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:78010974A>G	uc010nme.2	+	2	1013	c.608A>G	c.(607-609)AAG>AGG	p.K203R		NM_005296	NP_005287	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	203	Extracellular (Potential).					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			ovary(3)	3						TATTTATCCAAGATCACAATA	0.408													G	78010974	A	G	78010974	3	3	19	1	0	0	0	0	1	0	0	0	8907	72	3	3	610	3	LPAR4	23	78010974	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	1135042	78010974	77259586	3308	17607											
SATL1	340562	broad.mit.edu	37	chrX	84363505	84363505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgcctaattggctggtgCctacttgtctcatgcttggt	11	9	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:84363505C>T	uc011mqx.1	-	1	470	c.470G>A	c.(469-471)GGC>GAC	p.G157D	SATL1_uc004een.2_Missense_Mutation_p.G157D	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	213	Gln-rich.						N-acetyltransferase activity			breast(2)	2						TTGGCTGGTGCCTACTTGTCT	0.522											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	84363505	C	T	84363505	3	4	19	1	0	0	0	0	1	0	0	0	13855	739	26	2	1448	2	SATL1	23	84363505	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	6352531	84363505	70907055	3309	17608											
CHM	1121	broad.mit.edu	37	chrX	85218946	85218946	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagtgcttaatgactcatcCtccgtaggcaggaaggcaga	11	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:85218946C>A	uc004eet.2	-	5	456	c.426G>T	c.(424-426)GAG>GAT	p.E142D	CHM_uc011mqz.1_Translation_Start_Site	NM_000390	NP_000381	P24386	RAE1_HUMAN	choroideremia isoform a	142					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(1)	1		all_lung(315;5.41e-06)				ATGACTCATCCTCCGTAGGCA	0.468													A	85218946	C	A	85218946	3	1	19	1	0	0	0	0	1	0	0	0	3350	680	24	5	1579	5	CHM	23	85218946	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	855441	85218946	70051614	3310	17609											
DIAPH2	1730	broad.mit.edu	37	chrX	96213149	96213149	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaatcaattggtcaaaggTaatactaaaactagagtttt	8	4	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:96213149T>C	uc004efu.3	+	16	2331	c.1935_splice	c.e16+2	p.K645_splice	DIAPH2_uc004eft.3_Splice_Site_p.K645_splice	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156						cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						TGGTCAAAGGTAATACTAAAA	0.348													C	96213149	T	C	96213149	5	2	19	1	0	0	0	0	0	0	1	0	4519	1652	57	3	1999	3	DIAPH2	23	96213149	Splice_Site	SNP	T	TCGA-BR-4361-01A-01D-1158-08	10994203	96213149	59057411	3311	17610											
DRP2	1821	broad.mit.edu	37	chrX	100515565	100515565	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtcatgccttccccagTgtgcgaagttctgatgtgac	10	13	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:100515565T>C	uc004egz.2	+	24	3198	c.2829T>C	c.(2827-2829)AGT>AGC	p.S943S	DRP2_uc011mrh.1_Silent_p.S865S	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	943					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						CCTTCCCCAGTGTGCGAAGTT	0.517													C	100515565	T	C	100515565	2	2	19	1	0	0	0	0	0	0	0	1	4764	1693	59	3		3	DRP2	23	100515565	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	4302416	100515565	54754995	3312	17611											
RPL36A	6173	broad.mit.edu	37	chrX	100646445	100646445	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaactgtttctttactAggttaacgtccctaaaaccc	5	11	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:100646445A>G	uc004ehk.2	+	2	88	c.4_splice	c.e2-2	p.V2_splice	BTK_uc010nno.2_5'Flank|RPL36A_uc004ehj.1_Splice_Site_p.V2_splice	NM_021029	NP_066357	P83881	RL36A_HUMAN	ribosomal protein L36a						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome				0						TTTCTTTACTAGGTTAACGTC	0.483													G	100646445	A	G	100646445	5	3	19	1	0	0	0	0	0	0	1	0	13587	434	15	3	8	3	RPL36A	23	100646445	Splice_Site	SNP	A	TCGA-BR-4361-01A-01D-1158-08	130880	100646445	54624115	3313	17612											
HNRNPH2	3188	broad.mit.edu	37	chrX	100667240	100667240	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacgttgaagtattcaagtcTaacagtgttgaaatggattg	10	4	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:100667240T>C	uc004ehm.2	+	2	434	c.264T>C	c.(262-264)TCT>TCC	p.S88S	HNRNPH2_uc004ehn.2_Silent_p.S88S	NM_019597	NP_062543	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2	88	RRM 1.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						TATTCAAGTCTAACAGTGTTG	0.448													C	100667240	T	C	100667240	2	2	19	1	0	0	0	0	0	0	0	1	7267	1509	53	3		3	HNRNPH2	23	100667240	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	20795	100667240	54603320	3314	17613											
GPRASP2	114928	broad.mit.edu	37	chrX	101969872	101969872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggaagaggttatcgctggGcctgagagagagaatgatgt	18	4	0	5			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:101969872G>A	uc004ejk.2	+	4	1409	c.75G>A	c.(73-75)GGG>GGA	p.G25G	GPRASP2_uc004ejl.2_Silent_p.G25G|GPRASP2_uc004ejm.2_Silent_p.G25G|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	25						cytoplasm	protein binding			ovary(1)	1						TTATCGCTGGGCCTGAGAGAG	0.483													A	101969872	G	A	101969872	2	1	19	1	0	0	0	0	0	0	0	1	6723	1190	42	2		2	GPRASP2	23	101969872	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1302632	101969872	53300688	3315	17614											
GPRASP2	114928	broad.mit.edu	37	chrX	101970123	101970123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggcagtaggtggcgctcGttctaaaactgatgccaagg	14	9	1	1	rs139789934	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:101970123G>A	uc004ejk.2	+	4	1660	c.326G>A	c.(325-327)CGT>CAT	p.R109H	GPRASP2_uc004ejl.2_Missense_Mutation_p.R109H|GPRASP2_uc004ejm.2_Missense_Mutation_p.R109H|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	109						cytoplasm	protein binding			ovary(1)	1						GGTGGCGCTCGTTCTAAAACT	0.572													A	101970123	G	A	101970123	3	1	19	1	0	0	0	0	1	0	0	0	6723	1145	40	1	328	1	GPRASP2	23	101970123	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	251	101970123	53300437	3316	17615											
NRK	203447	broad.mit.edu	37	chrX	105152923	105152924	+	Frame_Shift_Ins	INS	-	-	G													gtgcacctaagcctctaaagINSgggcaggctcaggcacctca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:105152922_105152923A>AG	uc004emd.3	+	12	1592_1593	c.1289_1290A>AG	c.(1288-1290)aagfs	p.K430fs	NRK_uc010npc.1_Frame_Shift_Ins_p.K98fs	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	430	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AAGCCTCTAAAGGGGCAGGCTC	0.564										HNSCC(51;0.14)			G	105152924	-	G	105152923	7	5	19	1	0	1	1	0	0	0	0	0	10655	991	35	0	1340	0	NRK	23	105152923	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	3182800	105152923	50117637	3317	17616											
CXorf57	55086	broad.mit.edu	37	chrX	105883944	105883944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattcttcaaggcccacacGctaatccgtaagtcatttgt	7	11	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:105883944G>A	uc004emi.3	+	10	2048	c.1897G>A	c.(1897-1899)GCT>ACT	p.A633T	CXorf57_uc004emj.3_Missense_Mutation_p.A536T	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	hypothetical protein LOC55086	633										ovary(1)|lung(1)|breast(1)	3						AGGCCCACACGCTAATCCGTA	0.323													A	105883944	G	A	105883944	3	1	19	1	0	0	0	0	1	0	0	0	4113	1087	38	1	1935	1	CXorf57	23	105883944	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	731021	105883944	49386616	3318	17617											
RBM41	55285	broad.mit.edu	37	chrX	106312575	106312575	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctcctggaaccgagcgaAcaatgacacaagatctcttt	7	11	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:106312575A>G	uc004emz.2	-	6	1016	c.985T>C	c.(985-987)TTC>CTC	p.F329L	RBM41_uc004emy.1_Missense_Mutation_p.F329L	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	329	RRM.						nucleotide binding|RNA binding			ovary(1)	1						AACCGAGCGAACAATGACACA	0.423													G	106312575	A	G	106312575	3	3	19	1	0	0	0	0	1	0	0	0	13135	43	2	3	273	3	RBM41	23	106312575	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	428631	106312575	48957985	3319	17618											
TSC22D3	1831	broad.mit.edu	37	chrX	106957919	106957919	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccaccagctctcggatctGctccttcaggatctccacct	6	18	4	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:106957919G>T	uc004eng.2	-	3	485	c.235C>A	c.(235-237)CAG>AAG	p.Q79K	TSC22D3_uc004enf.2_Missense_Mutation_p.Q22K|TSC22D3_uc004enh.2_Missense_Mutation_p.Q145K|TSC22D3_uc004eni.2_Missense_Mutation_p.Q145K|TSC22D3_uc004enj.2_Missense_Mutation_p.Q145K	NM_004089	NP_004080	Q99576	T22D3_HUMAN	TSC22 domain family, member 3 isoform 2	79	Leucine-zipper.						sequence-specific DNA binding transcription factor activity				0						TCTCGGATCTGCTCCTTCAGG	0.522													T	106957919	G	T	106957919	3	4	19	1	0	0	0	0	1	0	0	0	16606	1328	46	5	173	5	TSC22D3	23	106957919	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	645344	106957919	48312641	3320	17619											
TSC22D3	1831	broad.mit.edu	37	chrX	107018394	107018394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggttgcagatgccctcgtTgatcaggtagcaggggtccc	15	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:107018394T>C	uc004enh.2	-	1	624	c.256A>G	c.(256-258)AAC>GAC	p.N86D	TSC22D3_uc004eni.2_Missense_Mutation_p.N86D|TSC22D3_uc004enj.2_Missense_Mutation_p.N86D	NM_198057	NP_932174	Q99576	T22D3_HUMAN	TSC22 domain family, member 3 isoform 1	Error:Variant_position_missing_in_Q99576_after_alignment							sequence-specific DNA binding transcription factor activity				0						ATGCCCTCGTTGATCAGGTAG	0.577													C	107018394	T	C	107018394	3	2	19	1	0	0	0	0	1	0	0	0	16606	1812	63	3	484	3	TSC22D3	23	107018394	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	60475	107018394	48252166	3321	17620											
MID2	11043	broad.mit.edu	37	chrX	107148791	107148791	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtcctcatcaaccaagcTgagcatatcctgaaagaaaa	6	11	2	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:107148791T>C	uc004enl.2	+	5	1581	c.1008T>C	c.(1006-1008)GCT>GCC	p.A336A	MID2_uc004enk.2_Silent_p.A336A	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	midline 2 isoform 1	336						centrosome|microtubule	ligase activity|zinc ion binding			ovary(1)	1						TCAACCAAGCTGAGCATATCC	0.423													C	107148791	T	C	107148791	2	2	19	1	0	0	0	0	0	0	0	1	9578	1567	55	3		3	MID2	23	107148791	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	130397	107148791	48121769	3322	17621											
TEX13B	56156	broad.mit.edu	37	chrX	107225187	107225187	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacctcgctgggcacctcGctgtcctccaggatggccct	11	16	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:107225187G>A	uc004enn.1	-	2	264	c.171C>T	c.(169-171)AGC>AGT	p.S57S		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	testis expressed 13B	57										ovary(1)	1						TGGGCACCTCGCTGTCCTCCA	0.602													A	107225187	G	A	107225187	2	1	19	1	0	0	0	0	0	0	0	1	15774	1078	38	1		1	TEX13B	23	107225187	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	76396	107225187	48045373	3323	17622											
COL4A5	1287	broad.mit.edu	37	chrX	107930771	107930771	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaaggtcccccaggtcccCctggaacctcctctgttgca	9	17	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:107930771C>A	uc004enz.1	+	48	4577	c.4375C>A	c.(4375-4377)CCT>ACT	p.P1459T	COL4A5_uc011mso.1_Missense_Mutation_p.P1456T|COL4A5_uc011msp.1_Missense_Mutation_p.P135T	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1453	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						CCCAGGTCCCCCTGGAACCTC	0.502									Alport_syndrome_with_Diffuse_Leiomyomatosis				A	107930771	C	A	107930771	3	1	19	1	0	0	0	0	1	0	0	0	3694	623	22	5	4554	5	COL4A5	23	107930771	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	705584	107930771	47339789	3324	17623											
IRS4	8471	broad.mit.edu	37	chrX	107977646	107977646	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagacttcccttttccaccAgttcctccagctggtggggg	10	15	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:107977646A>G	uc004eoc.2	-	1	1962	c.1929T>C	c.(1927-1929)ACT>ACC	p.T643T		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	643						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CTTTTCCACCAGTTCCTCCAG	0.468													G	107977646	A	G	107977646	2	3	19	1	0	0	0	0	0	0	0	1	7842	175	7	3		3	IRS4	23	107977646	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	46875	107977646	47292914	3325	17624											
IRS4	8471	broad.mit.edu	37	chrX	107977803	107977804	+	Frame_Shift_Ins	INS	-	-	C													cccacttcctgagcctttgcINScccccccagagttcttgcca							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:107977802_107977803G>GC	uc004eoc.2	-	0	1805_1806	c.1772_1773C>GC	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													C	107977804	-	C	107977803	7	5	19	1	0	1	1	0	0	0	0	0	7842	739	26	0	2005	0	IRS4	23	107977803	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	157	107977803	47292757	3326	17625											
IRS4	8471	broad.mit.edu	37	chrX	107979483	107979483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaggaaagaagcggggtgGtcaccactgctgctagagct	15	10	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:107979483G>A	uc004eoc.2	-	1	125	c.92C>T	c.(91-93)ACC>ATC	p.T31I		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	31						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						AAGCGGGGTGGTCACCACTGC	0.637													A	107979483	G	A	107979483	3	1	19	1	0	0	0	0	1	0	0	0	7842	1261	44	4	3685	4	IRS4	23	107979483	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	1680	107979483	47291077	3327	17626											
TRPC5	7224	broad.mit.edu	37	chrX	111095589	111095589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagttcattgcaaaatcCatcaggttccaccagtcatg	9	10	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:111095589C>T	uc004epl.1	-	5	2233	c.1314G>A	c.(1312-1314)ATG>ATA	p.M438I	TRPC5_uc004epm.1_Missense_Mutation_p.M438I	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	438	Helical; (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						TTGCAAAATCCATCAGGTTCC	0.423													T	111095589	C	T	111095589	3	4	19	1	0	0	0	0	1	0	0	0	16579	594	21	4	1635	4	TRPC5	23	111095589	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	3116106	111095589	44174971	3328	17627											
TRPC5	7224	broad.mit.edu	37	chrX	111155755	111155755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgagctcccagcccagacGgaaggcagttaggatggggt	15	10	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:111155755G>A	uc004epl.1	-	3	1583	c.664C>T	c.(664-666)CGT>TGT	p.R222C	TRPC5_uc004epm.1_Missense_Mutation_p.R222C	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	222	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						CAGCCCAGACGGAAGGCAGTT	0.557													A	111155755	G	A	111155755	3	1	19	1	0	0	0	0	1	0	0	0	16579	1116	39	1	2293	1	TRPC5	23	111155755	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	60166	111155755	44114805	3329	17628											
LHFPL1	340596	broad.mit.edu	37	chrX	111914429	111914429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagcgcccacattcttccaCcatgatcagactgtgtccct	6	15	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:111914429C>T	uc004epq.2	-	2	523	c.190G>A	c.(190-192)GTG>ATG	p.V64M	LHFPL1_uc004epp.2_Missense_Mutation_p.V87M|LHFPL1_uc010nqa.2_Intron|LHFPL1_uc010nqb.2_Missense_Mutation_p.V64M	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1 precursor	64						integral to membrane					0						CATTCTTCCACCATGATCAGA	0.577													T	111914429	C	T	111914429	3	4	19	1	0	0	0	0	1	0	0	0	8764	507	18	4	484	4	LHFPL1	23	111914429	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	758674	111914429	43356131	3330	17629											
AMOT	154796	broad.mit.edu	37	chrX	112033828	112033828	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacctacttacctctgagcAgccacagttgcagcagcatc	7	15	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:112033828A>G	uc004epr.2	-	7	2109	c.2109T>C	c.(2107-2109)GCT>GCC	p.A703A	AMOT_uc004eps.2_Silent_p.A294A	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	703					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						ACCTCTGAGCAGCCACAGTTG	0.428													G	112033828	A	G	112033828	2	3	19	1	0	0	0	0	0	0	0	1	582	175	7	3		3	AMOT	23	112033828	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	119399	112033828	43236732	3331	17630											
KLHL13	90293	broad.mit.edu	37	chrX	117053538	117053538	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggcagaatctgtaggaaActggcagcttccagcgtgtc	12	10	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:117053538A>G	uc004eql.2	-	4	578	c.516T>C	c.(514-516)AGT>AGC	p.S172S	KLHL13_uc004eqk.2_Silent_p.S121S|KLHL13_uc011mtn.1_Silent_p.S12S|KLHL13_uc011mto.1_Silent_p.S166S|KLHL13_uc011mtp.1_Silent_p.S174S|KLHL13_uc004eqm.2_Silent_p.S121S|KLHL13_uc011mtq.1_Silent_p.S156S	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	172					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)|skin(1)	2						TCTGTAGGAAACTGGCAGCTT	0.383													G	117053538	A	G	117053538	2	3	19	1	0	0	0	0	0	0	0	1	8369	40	2	3		3	KLHL13	23	117053538	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	5019710	117053538	38217022	3332	17631											
WDR44	54521	broad.mit.edu	37	chrX	117576542	117576542	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttagatattggtaacctcAaatgactccagaatcagact	6	8	2	4			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:117576542A>G	uc004eqn.2	+	17	2708	c.2283A>G	c.(2281-2283)TCA>TCG	p.S761S	WDR44_uc004eqo.2_Silent_p.S761S|WDR44_uc011mtr.1_Silent_p.S672S|WDR44_uc010nqi.2_Silent_p.S471S	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	761	WD 5.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						TGGTAACCTCAAATGACTCCA	0.343													G	117576542	A	G	117576542	2	3	19	1	0	0	0	0	0	0	0	1	17293	117	5	3		3	WDR44	23	117576542	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	523004	117576542	37694018	3333	17632											
DOCK11	139818	broad.mit.edu	37	chrX	117677508	117677508	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcacagattggcacgtggTaaactacaagtatgaggact	11	7	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:117677508T>C	uc004eqp.2	+	4	407	c.344T>C	c.(343-345)GTA>GCA	p.V115A		NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	115	Interaction with activated CDC42 (By similarity).				blood coagulation	cytosol	GTP binding			ovary(3)	3						TGGCACGTGGTAAACTACAAG	0.338													C	117677508	T	C	117677508	3	2	19	1	0	0	0	0	1	0	0	0	4686	1638	57	3	358	3	DOCK11	23	117677508	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	100966	117677508	37593052	3334	17633											
KIAA1210	57481	broad.mit.edu	37	chrX	118215323	118215323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctgccatgtggctccatGctttggctttcttcctggcc	9	13	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:118215323G>A	uc004era.3	-	14	5099	c.5099C>T	c.(5098-5100)GCA>GTA	p.A1700V		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	1700										ovary(4)|skin(1)	5						GTGGCTCCATGCTTTGGCTTT	0.388													A	118215323	G	A	118215323	3	1	19	1	0	0	0	0	1	0	0	0	8214	1319	46	2	34	2	KIAA1210	23	118215323	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	537815	118215323	37055237	3335	17634											
CXorf56	63932	broad.mit.edu	37	chrX	118694255	118694255	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagatacatagtctcctcaTcttctgtgttacaaaactta	5	10	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:118694255T>C	uc004erk.1	-	2	264	c.218A>G	c.(217-219)GAT>GGT	p.D73G	CXorf56_uc004erj.1_Missense_Mutation_p.D24G|CXorf56_uc011mtu.1_Missense_Mutation_p.D73G	NM_022101	NP_071384	Q9H5V9	CX056_HUMAN	hypothetical protein LOC63932	73							protein binding				0						AGTCTCCTCATCTTCTGTGTT	0.453													C	118694255	T	C	118694255	3	2	19	1	0	0	0	0	1	0	0	0	4112	1435	50	3	474	3	CXorf56	23	118694255	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	478932	118694255	36576305	3336	17635											
UPF3B	65109	broad.mit.edu	37	chrX	118972430	118972430	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagattctctttgtccaattTcttggctttttctcttttgt	6	8	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:118972430T>C	uc004erz.1	-	9	984	c.907A>G	c.(907-909)AAA>GAA	p.K303E	UPF3B_uc004esa.1_Missense_Mutation_p.K290E	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	303	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(2)|kidney(1)	3						TTGTCCAATTTCTTGGCTTTT	0.368													C	118972430	T	C	118972430	3	2	19	1	0	0	0	0	1	0	0	0	17003	1792	62	3	556	3	UPF3B	23	118972430	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	278175	118972430	36298130	3337	17636											
ZBTB33	10009	broad.mit.edu	37	chrX	119388375	119388375	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaaaataccagttttgatGgatcattaatacagaagatg	7	7	1	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:119388375G>T	uc004esn.1	+	2	1333	c.1105G>T	c.(1105-1107)GGA>TGA	p.G369*	ZBTB33_uc010nqm.1_Nonsense_Mutation_p.G369*	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	kaiso	369					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						CAGTTTTGATGGATCATTAAT	0.378													T	119388375	G	T	119388375	4	4	19	1	0	0	0	0	0	1	0	0	17533	1349	47	5	1107	5	ZBTB33	23	119388375	Nonsense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	415945	119388375	35882185	3338	17637											
CUL4B	8450	broad.mit.edu	37	chrX	119708425	119708425	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgtctttagaggtagtAgcctcatcatcattcccatc	6	14	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:119708425A>G	uc004esw.2	-	2	485	c.48T>C	c.(46-48)GCT>GCC	p.A16A		NM_003588	NP_003579	Q13620	CUL4B_HUMAN	cullin 4B isoform 1	16	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3						TAGAGGTAGTAGCCTCATCAT	0.343													G	119708425	A	G	119708425	2	3	19	1	0	0	0	0	0	0	0	1	4058	407	15	3		3	CUL4B	23	119708425	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	320050	119708425	35562135	3339	17638											
MCTS1	28985	broad.mit.edu	37	chrX	119742205	119742205	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaccctgctgcagtagatAccattgttgtatccttccca	6	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:119742205A>G	uc004esx.2	+	4	736	c.388A>G	c.(388-390)ACC>GCC	p.T130A	MCTS1_uc011mub.1_Missense_Mutation_p.T131A	NM_014060	NP_054779	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1 isoform 1	130	PUA.				cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding				0						TGCAGTAGATACCATTGTTGT	0.413													G	119742205	A	G	119742205	3	3	19	1	0	0	0	0	1	0	0	0	9402	391	14	3	420	3	MCTS1	23	119742205	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	33780	119742205	35528355	3340	17639											
STAG2	10735	broad.mit.edu	37	chrX	123195082	123195082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaaattttagttacatgaGcatgcagcataccttgtgga	8	6	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:123195082G>A	uc004etz.3	+	15	1764	c.1425G>A	c.(1423-1425)GAG>GAA	p.E475E	STAG2_uc004eua.2_Silent_p.E475E|STAG2_uc004eub.2_Silent_p.E475E|STAG2_uc004euc.2_Silent_p.E475E|STAG2_uc004eud.2_Silent_p.E475E|STAG2_uc004eue.2_Silent_p.E475E	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	475					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						AGTTACATGAGCATGCAGCAT	0.383													A	123195082	G	A	123195082	2	1	19	1	0	0	0	0	0	0	0	1	15242	962	34	2		2	STAG2	23	123195082	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	3452877	123195082	32075478	3341	17640											
ODZ1	10178	broad.mit.edu	37	chrX	123518480	123518480	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggtgtgtttcatcactgTagtagttatgacctgattta	9	5	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:123518480T>C	uc004euj.2	-	29	6344	c.6280A>G	c.(6280-6282)ACA>GCA	p.T2094A	ODZ1_uc011muj.1_Missense_Mutation_p.T2100A|ODZ1_uc010nqy.2_Missense_Mutation_p.T2101A	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	2094	YD 15.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TTCATCACTGTAGTAGTTATG	0.368													C	123518480	T	C	123518480	3	2	19	1	0	0	0	0	1	0	0	0	10834	1638	57	3	1909	3	ODZ1	23	123518480	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	323398	123518480	31752080	3342	17641											
ODZ1	10178	broad.mit.edu	37	chrX	123526044	123526044	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgaaggtgaatatgtgatgTtcacttcattatatctgctt	8	7	3	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:123526044T>C	uc004euj.2	-	27	5589	c.5525A>G	c.(5524-5526)AAC>AGC	p.N1842S	ODZ1_uc011muj.1_Missense_Mutation_p.N1848S|ODZ1_uc010nqy.2_Missense_Mutation_p.N1849S	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1842	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						ATATGTGATGTTCACTTCATT	0.393													C	123526044	T	C	123526044	3	2	19	1	0	0	0	0	1	0	0	0	10834	1725	60	3	2672	3	ODZ1	23	123526044	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	7564	123526044	31744516	3343	17642											
BCORL1	63035	broad.mit.edu	37	chrX	129147330	129147330	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accctgcccctggttaccacTaacttcagtcctctgccagc	6	18	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:129147330T>C	uc004evb.1	+	4	696	c.582T>C	c.(580-582)ACT>ACC	p.T194T	BCORL1_uc010nrd.1_Silent_p.T96T	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	194					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						TGGTTACCACTAACTTCAGTC	0.577													C	129147330	T	C	129147330	2	2	19	1	0	0	0	0	0	0	0	1	1387	1509	53	3		3	BCORL1	23	129147330	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	5621286	129147330	26123230	3344	17643											
BCORL1	63035	broad.mit.edu	37	chrX	129159178	129159178	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggcgagcccgagaaaTgccctggaggacagaggctg	16	11	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:129159178T>C	uc004evb.1	+	7	4016	c.3902T>C	c.(3901-3903)ATG>ACG	p.M1301T	BCORL1_uc010nrd.1_Intron|BCORL1_uc004evc.1_Missense_Mutation_p.M63T	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1301					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						GCCCGAGAAATGCCCTGGAGG	0.522													C	129159178	T	C	129159178	3	2	19	1	0	0	0	0	1	0	0	0	1387	1464	51	3	3924	3	BCORL1	23	129159178	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	11848	129159178	26111382	3345	17644											
RAB33A	9363	broad.mit.edu	37	chrX	129318513	129318513	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagccctgaaatttgctgaTgcccacaacatgctcttgtt	7	11	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:129318513T>C	uc004evl.2	+	2	777	c.513T>C	c.(511-513)GAT>GAC	p.D171D	RAB33A_uc010nre.2_RNA	NM_004794	NP_004785	Q14088	RB33A_HUMAN	Ras-related protein Rab-33A	171					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding				0						AATTTGCTGATGCCCACAACA	0.532													C	129318513	T	C	129318513	2	2	19	1	0	0	0	0	0	0	0	1	12922	1461	51	3		3	RAB33A	23	129318513	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	159335	129318513	25952047	3346	17645											
SLC25A14	9016	broad.mit.edu	37	chrX	129505599	129505599	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggccaaactggcttcggcTtggaccctggaacatcattg	11	11	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:129505599T>C	uc004evn.1	+	10	1130	c.917T>C	c.(916-918)CTT>CCT	p.L306P	SLC25A14_uc004evo.1_Missense_Mutation_p.L127P|SLC25A14_uc004evp.1_Missense_Mutation_p.L306P|SLC25A14_uc004evq.1_Missense_Mutation_p.L303P|SLC25A14_uc004evr.1_Missense_Mutation_p.L334P	NM_003951	NP_003942	O95258	UCP5_HUMAN	solute carrier family 25, member 14 isoform	306	Helical; Name=6; (Potential).|Solcar 3.				aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			ovary(1)	1						TGGCTTCGGCTTGGACCCTGG	0.398													C	129505599	T	C	129505599	3	2	19	1	0	0	0	0	1	0	0	0	14476	1609	56	3	951	3	SLC25A14	23	129505599	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	187086	129505599	25764961	3347	17646											
HS6ST2	90161	broad.mit.edu	37	chrX	131762582	131762583	+	Frame_Shift_Ins	INS	-	-	A													cataaactgatacctctgcaINSaaaaaaggtctttggcatag							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:131762581_131762582C>CA	uc011mvd.1	-	5	2023_2024	c.1607_1608G>TG	c.(1606-1608)ttgfs	p.L536fs	HS6ST2_uc011mvb.1_Frame_Shift_Ins_p.L390fs|HS6ST2_uc011mvc.1_Frame_Shift_Ins_p.L350fs|HS6ST2_uc011mve.1_Frame_Shift_Ins_p.L496fs|HS6ST2_uc011mva.1_Frame_Shift_Ins_p.L222fs	NM_001077188	NP_001070656	Q96MM7	H6ST2_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 2 (HS6ST2), transcript variant L, mRNA.	496						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GATACCTCTGCAAAAAAAGGTC	0.45													A	131762583	-	A	131762582	7	5	19	1	0	1	1	0	0	0	0	0	7371	131	5	0	334	0	HS6ST2	23	131762582	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	2256983	131762582	23507978	3348	17647											
FAM122C	159091	broad.mit.edu	37	chrX	133988192	133988192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taattcgtcagctgaaatcgGcactgtcacaaactctcctg	7	12	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:133988192G>A	uc004exz.1	+	7	919	c.514G>A	c.(514-516)GCA>ACA	p.A172T	FAM122C_uc011mvq.1_RNA|FAM122C_uc004exy.1_3'UTR	NM_138819	NP_620174	Q6P4D5	F222C_HUMAN	hypothetical protein LOC159091	172											0	Acute lymphoblastic leukemia(192;0.000127)					GCTGAAATCGGCACTGTCACA	0.408													A	133988192	G	A	133988192	3	1	19	1	0	0	0	0	1	0	0	0	5421	1203	42	2	1101	2	FAM122C	23	133988192	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	2225610	133988192	21282368	3349	17648											
ZNF75D	7626	broad.mit.edu	37	chrX	134421382	134421382	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcatgaagtgcttattaagaTctgaactccatctaaacctc	5	10	3	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:134421382T>A	uc004eyp.2	-	7	3875	c.1220A>T	c.(1219-1221)GAT>GTT	p.D407V	ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_Missense_Mutation_p.D186V|ZNF75D_uc004eyo.2_Missense_Mutation_p.D312V	NM_007131	NP_009062	P51815	ZN75D_HUMAN	zinc finger protein 75	407	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CTTATTAAGATCTGAACTCCA	0.378													A	134421382	T	A	134421382	3	1	19	1	0	0	0	0	1	0	0	0	18131	1435	50	5	316	5	ZNF75D	23	134421382	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	433190	134421382	20849178	3350	17649											
DDX26B	203522	broad.mit.edu	37	chrX	134711258	134711258	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaccacaaacaccaccTactgtaactaaccatgtggg	7	12	0	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:134711258T>C	uc004eyw.3	+	14	2277	c.1914T>C	c.(1912-1914)CCT>CCC	p.P638P	DDX26B_uc004eyx.3_Silent_p.P239P	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	638											0	Acute lymphoblastic leukemia(192;6.56e-05)					AAACACCACCTACTGTAACTA	0.488													C	134711258	T	C	134711258	2	2	19	1	0	0	0	0	0	0	0	1	4353	1509	53	3		3	DDX26B	23	134711258	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	289876	134711258	20559302	3351	17650											
SAGE1	55511	broad.mit.edu	37	chrX	134993422	134993422	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcacctgataactccttgTcaacggttccacctggttgt	9	12	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:134993422T>C	uc004ezh.2	+	17	2244	c.2077T>C	c.(2077-2079)TCA>CCA	p.S693P	SAGE1_uc010nry.1_Missense_Mutation_p.S662P|SAGE1_uc011mvv.1_Missense_Mutation_p.S317P	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	693										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					TAACTCCTTGTCAACGGTTCC	0.463													C	134993422	T	C	134993422	3	2	19	1	0	0	0	0	1	0	0	0	13809	1667	58	3	2139	3	SAGE1	23	134993422	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	282164	134993422	20277138	3352	17651											
MAP7D3	79649	broad.mit.edu	37	chrX	135308143	135308143	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgcgtttgtcagcttcCtcttgagcttttattttggc	8	9	3	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:135308143C>T	uc004ezt.2	-	13	2155	c.2064G>A	c.(2062-2064)GAG>GAA	p.E688E	MAP7D3_uc004ezs.2_Silent_p.E652E|MAP7D3_uc011mwc.1_Silent_p.E670E|MAP7D3_uc010nsa.1_Silent_p.E646E	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	688						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TGTCAGCTTCCTCTTGAGCTT	0.378													T	135308143	C	T	135308143	2	4	19	1	0	0	0	0	0	0	0	1	9269	680	24	4		4	MAP7D3	23	135308143	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	314721	135308143	19962417	3353	17652											
MAP7D3	79649	broad.mit.edu	37	chrX	135314194	135314194	+	Frame_Shift_Del	DEL	G	G	-													gaatacttccacattcacctGggggggtgcatccacacttg							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:135314193_135314193TG>T	uc004ezt.3	-	7	1144	c.923_923CA>A	c.(922-924)cagfs	p.Q308fs	MAP7D3_uc004ezs.3_Frame_Shift_Del_p.Q273fs|MAP7D3_uc011mwc.2_Frame_Shift_Del_p.Q290fs|MAP7D3_uc010nsa.2_Frame_Shift_Del_p.Q266fs	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGC	0.537													-	135314194	G	-	135314194	7	5	19	1	0	1	0	1	0	0	0	0	9269	1357	47	0	1752	0	MAP7D3	23	135314194	Frame_Shift_Del	DEL	G	TCGA-BR-4361-01A-01D-1158-08	6051	135314194	19956366	3354	17653											
GPR112	139378	broad.mit.edu	37	chrX	135494507	135494507	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctctgctgtgggtggttgCgattggataactcttctggt	13	8	3	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:135494507C>T	uc004ezu.1	+	24	9310	c.9019C>T	c.(9019-9021)CGA>TGA	p.R3007*	GPR112_uc010nsb.1_Nonsense_Mutation_p.R2802*	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	3007	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					TGGGTGGTTGCGATTGGATAA	0.398													T	135494507	C	T	135494507	4	4	19	1	0	0	0	0	0	1	0	0	6629	760	27	1	9101	1	GPR112	23	135494507	Nonsense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	180313	135494507	19776053	3355	17654											
HTATSF1	27336	broad.mit.edu	37	chrX	135582956	135582956	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggaaatcttaaaggagaCggtctttgctgttatttgaa	10	5	2	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:135582956C>T	uc004ezw.2	+	5	971	c.549C>T	c.(547-549)GAC>GAT	p.D183D	HTATSF1_uc004ezx.2_Silent_p.D183D	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	183	RRM 1.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					TTAAAGGAGACGGTCTTTGCT	0.318													T	135582956	C	T	135582956	2	4	19	1	0	0	0	0	0	0	0	1	7433	535	19	1		1	HTATSF1	23	135582956	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	88449	135582956	19687604	3356	17655											
ARHGEF6	9459	broad.mit.edu	37	chrX	135764958	135764958	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggacttgcagataacaTtatcaggacatttgaaaata	8	7	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:135764958T>G	uc004fab.2	-	13	1900	c.1438A>C	c.(1438-1440)ATG>CTG	p.M480L	ARHGEF6_uc011mwd.1_Missense_Mutation_p.M353L|ARHGEF6_uc011mwe.1_Missense_Mutation_p.M326L	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	480	PH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					GCAGATAACATTATCAGGACA	0.373													G	135764958	T	G	135764958	3	3	19	1	0	0	0	0	1	0	0	0	910	1493	52	5	932	5	ARHGEF6	23	135764958	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	182002	135764958	19505602	3357	17656											
ARHGEF6	9459	broad.mit.edu	37	chrX	135790867	135790867	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggcttggcagagtgtcTgttgaaatgtgcatacttcc	11	9	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:135790867T>C	uc004fab.2	-	8	1352	c.890A>G	c.(889-891)CAG>CGG	p.Q297R	ARHGEF6_uc011mwd.1_Missense_Mutation_p.Q170R|ARHGEF6_uc011mwe.1_Missense_Mutation_p.Q143R	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	297	DH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					GCAGAGTGTCTGTTGAAATGT	0.373													C	135790867	T	C	135790867	3	2	19	1	0	0	0	0	1	0	0	0	910	1580	55	3	1500	3	ARHGEF6	23	135790867	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	25909	135790867	19479693	3358	17657											
ZIC3	7547	broad.mit.edu	37	chrX	136652218	136652218	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcctaattttaacgaaTggtacgtctgaggacaaaca	7	9	1	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:136652218T>C	uc004fak.2	+	3	1898	c.1393T>C	c.(1393-1395)TGG>CGG	p.W465R		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	465					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					TTTTAACGAATGGTACGTCTG	0.388													C	136652218	T	C	136652218	3	2	19	1	0	0	0	0	1	0	0	0	17677	1464	51	3	1403	3	ZIC3	23	136652218	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	861351	136652218	18618342	3359	17658											
FGF13	2258	broad.mit.edu	37	chrX	138286367	138286367	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcggcaagtctcgaccaCgagctcccctcggtgtggtt	14	13	1	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:138286367C>T	uc004faq.2	-	1	79	c.-97G>A	c.(-99--95)TCGTG>TCATG		FGF13_uc004far.2_Translation_Start_Site|FGF13_uc011mwj.1_Translation_Start_Site|FGF13_uc011mwk.1_Translation_Start_Site	NM_001139502	NP_001132974	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 3						cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GTCTCGACCACGAGCTCCCCT	0.637													T	138286367	C	T	138286367	1	4	19	1	0	0	0	0	0	0	0	0	5842	551	19	1		1	FGF13	23	138286367	Translation_Start_Site	SNP	C	TCGA-BR-4361-01A-01D-1158-08	1634149	138286367	16984193	3360	17659											
ATP11C	286410	broad.mit.edu	37	chrX	138864773	138864774	+	Frame_Shift_Ins	INS	-	-	T													tcatcgaaaactttttccatINStttttcttctctgtcttgta							TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:138864772_138864773A>AT	uc004faz.3	-	17	1993_1994	c.1894_1895T>AT	c.(1894-1896)atgfs	p.M632fs	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Frame_Shift_Ins_p.M632fs	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	632					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AACTTTTTCCATTTTTTCTTCT	0.332													T	138864774	-	T	138864773	7	5	19	1	0	1	1	0	0	0	0	0	1121	1493	52	0	1619	0	ATP11C	23	138864773	Frame_Shift_Ins	INS	-	TCGA-BR-4361-01A-01D-1158-08	578406	138864773	16405787	3361	17660											
PASD1	139135	broad.mit.edu	37	chrX	150842541	150842541	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataagcaccctggagaccccAcaggattacatccggctttg	9	13	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:150842541A>G	uc004fev.3	+	15	2390	c.2058A>G	c.(2056-2058)CCA>CCG	p.P686P		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	686						nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGACCCCACAGGATTACA	0.502													G	150842541	A	G	150842541	2	3	19	1	0	0	0	0	0	0	0	1	11471	146	6	3		3	PASD1	23	150842541	Silent	SNP	A	TCGA-BR-4361-01A-01D-1158-08	11977768	150842541	4428019	3362	17661											
DUSP9	1852	broad.mit.edu	37	chrX	152914972	152914972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagtgcccgggattccgCcaatttggagagcctggcca	15	12	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:152914972C>T	uc004fhx.3	+	3	863	c.659C>T	c.(658-660)GCC>GTC	p.A220V	DUSP9_uc004fhy.3_Missense_Mutation_p.A220V	NM_001395	NP_001386	Q99956	DUS9_HUMAN	dual specificity phosphatase 9	220	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGGATTCCGCCAATTTGGAG	0.582													T	152914972	C	T	152914972	3	4	19	1	0	0	0	0	1	0	0	0	4832	739	26	2	665	2	DUSP9	23	152914972	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	2072431	152914972	2355588	3363	17662											
SLC6A8	6535	broad.mit.edu	37	chrX	152959593	152959593	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctggccacagtttgtaggTgtggagggcttcatcaccgg	14	11	2	0			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:152959593T>C	uc004fib.3	+	9	1541	c.1263T>C	c.(1261-1263)GGT>GGC	p.G421G	SLC6A8_uc004fic.3_Silent_p.G411G|SLC6A8_uc011myx.1_Silent_p.G306G|SLC6A8_uc010nuj.2_RNA	NM_005629	NP_005620	P48029	SC6A8_HUMAN	solute carrier family 6 member 8 isoform 1	421	Cytoplasmic (Potential).				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	AGTTTGTAGGTGTGGAGGGCT	0.662													C	152959593	T	C	152959593	2	2	19	1	0	0	0	0	0	0	0	1	14690	1683	59	3		3	SLC6A8	23	152959593	Silent	SNP	T	TCGA-BR-4361-01A-01D-1158-08	44621	152959593	2310967	3364	17663											
IDH3G	3421	broad.mit.edu	37	chrX	153052989	153052989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgccagcttgaaggcatactCggcaatgcgcagggacttgg	14	11	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:153052989C>T	uc004fip.2	-	8	790	c.604G>A	c.(604-606)GAG>AAG	p.E202K	IDH3G_uc004fio.2_Missense_Mutation_p.E144K|IDH3G_uc004fiq.2_Missense_Mutation_p.E202K|IDH3G_uc010num.2_Missense_Mutation_p.E144K|IDH3G_uc004fir.2_Missense_Mutation_p.E144K|IDH3G_uc004fit.1_Missense_Mutation_p.E202K|IDH3G_uc004fis.2_Missense_Mutation_p.E144K|IDH3G_uc004fiu.2_5'UTR	NM_004135	NP_004126	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma isoform	202					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	AAGGCATACTCGGCAATGCGC	0.597													T	153052989	C	T	153052989	3	4	19	1	0	0	0	0	1	0	0	0	7498	893	31	1	664	1	IDH3G	23	153052989	Missense_Mutation	SNP	C	TCGA-BR-4361-01A-01D-1158-08	93396	153052989	2217571	3365	17664											
HCFC1	3054	broad.mit.edu	37	chrX	153222823	153222823	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggttttgatgatggtggtCgtgccgggcttggtggtact	17	5	0	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:153222823C>T	uc004fjp.2	-	13	2823	c.2295G>A	c.(2293-2295)ACG>ACA	p.T765T		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	765	Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGATGGTGGTCGTGCCGGGCT	0.642													T	153222823	C	T	153222823	2	4	19	1	0	0	0	0	0	0	0	1	6991	871	31	1		1	HCFC1	23	153222823	Silent	SNP	C	TCGA-BR-4361-01A-01D-1158-08	169834	153222823	2047737	3366	17665											
MECP2	4204	broad.mit.edu	37	chrX	153296142	153296142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggtgggagcagtggcacGggggcctttggggactctga	21	7	1	1	rs63749020		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:153296142G>A	uc004fjv.2	-	4	1363	c.1137C>T	c.(1135-1137)CCC>CCT	p.P379P	MECP2_uc004fjw.2_Silent_p.P391P	NM_004992	NP_004983	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 1	379	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGTGGCACGGGGGCCTTTG	0.692													A	153296142	G	A	153296142	2	1	19	1	0	0	0	0	0	0	0	1	9423	1103	39	1		1	MECP2	23	153296142	Silent	SNP	G	TCGA-BR-4361-01A-01D-1158-08	73319	153296142	1974418	3367	17666											
OPN1LW	5956	broad.mit.edu	37	chrX	153416152	153416152	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcgaaggcccgaattaccAcatcgctcccagatgggtgt	10	13	0	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:153416152A>G	uc004fjz.3	+	2	170	c.137A>G	c.(136-138)CAC>CGC	p.H46R		NM_020061	NP_064445	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	46	Extracellular.				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGAATTACCACATCGCTCCC	0.592													G	153416152	A	G	153416152	3	3	19	1	0	0	0	0	1	0	0	0	10877	159	6	3	143	3	OPN1LW	23	153416152	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	120010	153416152	1854408	3368	17667											
OPN1LW	5956	broad.mit.edu	37	chrX	153416196	153416196	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctcaccagtgtctggatgAtctttgtggtcactgcatcc	9	12	4	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:153416196A>G	uc004fjz.3	+	2	214	c.181A>G	c.(181-183)ATC>GTC	p.I61V		NM_020061	NP_064445	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	61	Helical; Name=1; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTCTGGATGATCTTTGTGGT	0.577													G	153416196	A	G	153416196	3	3	19	1	0	0	0	0	1	0	0	0	10877	333	12	3	187	3	OPN1LW	23	153416196	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	44	153416196	1854364	3369	17668											
OPN1LW	5956	broad.mit.edu	37	chrX	153416331	153416331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctagcagagaccgtcatcGccagcactatcagcattgtg	9	13	2	1			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:153416331G>A	uc004fjz.3	+	2	349	c.316G>A	c.(316-318)GCC>ACC	p.A106T		NM_020061	NP_064445	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	106	Helical; Name=2; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GACCGTCATCGCCAGCACTAT	0.597													A	153416331	G	A	153416331	3	1	19	1	0	0	0	0	1	0	0	0	10877	1087	38	1	322	1	OPN1LW	23	153416331	Missense_Mutation	SNP	G	TCGA-BR-4361-01A-01D-1158-08	135	153416331	1854229	3370	17669											
RPL10	6134	broad.mit.edu	37	chrX	153628915	153628915	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagctgcagaacaaggagcAtgtgattgaggccctgcgca	13	10	0	3			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:153628915A>G	uc004fkm.2	+	6	628	c.440A>G	c.(439-441)CAT>CGT	p.H147R	uc010nuv.1_5'Flank|RPL10_uc004fko.2_Intron|RPL10_uc004fkn.1_Missense_Mutation_p.H147R|RPL10_uc004fkp.1_3'UTR|RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Missense_Mutation_p.H72R	NM_006013	NP_006004	P27635	RL10_HUMAN	ribosomal protein L10	147					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AACAAGGAGCATGTGATTGAG	0.592													G	153628915	A	G	153628915	3	3	19	1	0	0	0	0	1	0	0	0	13554	217	8	3	458	3	RPL10	23	153628915	Missense_Mutation	SNP	A	TCGA-BR-4361-01A-01D-1158-08	212584	153628915	1641645	3371	17670											
MTCP1	4515	broad.mit.edu	37	chrX	154293909	154293909	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaccattaaatgatgctgTatctgccacaagcgagagtt	9	8	1	2			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:154293909T>C	uc004fmz.2	-	3	887	c.261A>G	c.(259-261)ATA>ATG	p.I87M	MTCP1NB_uc004fmy.2_Intron	NM_001018025	NP_001018025	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	87					cell proliferation					lung(1)	1	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AATGATGCTGTATCTGCCACA	0.448			T	TRA@	T cell prolymphocytic leukemia								C	154293909	T	C	154293909	3	2	19	1	0	0	0	0	1	0	0	0	9915	1628	57	3	70	3	MTCP1	23	154293909	Missense_Mutation	SNP	T	TCGA-BR-4361-01A-01D-1158-08	664994	154293909	976651	3372	17671											
NOC2L	26155	broad.mit.edu	37	chr1	889451	889451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagagcgggctgctggacGgctgcagcatcctgcagaga	15	13	0	2	rs150111944	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:889451G>A	uc001abz.3	-	7	769	c.710C>T	c.(709-711)CCG>CTG	p.P237L	NOC2L_uc001aby.3_Missense_Mutation_p.P34L|NOC2L_uc009vjq.2_Missense_Mutation_p.P237L	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	237						nucleolus	protein binding			ovary(1)|skin(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GCTGCTGGACGGCTGCAGCAT	0.677													A	889451	G	A	889451	3	1	20	1	0	0	0	0	1	0	0	0	10513	1116	39	1	1591	1	NOC2L	1	889451	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08		889451	248361170	1	17672											
CPSF3L	54973	broad.mit.edu	37	chr1	1250901	1250901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaagcccttccactgaccGtgtagaccacagactctgag	8	15	2	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:1250901G>A	uc001aee.1	-	5	585	c.527C>T	c.(526-528)ACG>ATG	p.T176M	CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.T182M|CPSF3L_uc009vjz.1_Missense_Mutation_p.T154M|CPSF3L_uc010nyj.1_Missense_Mutation_p.T147M|CPSF3L_uc001aeg.1_Missense_Mutation_p.T52M|CPSF3L_uc001aeh.1_Missense_Mutation_p.T75M|CPSF3L_uc001aei.1_Missense_Mutation_p.T78M|CPSF3L_uc001aej.1_Intron|CPSF3L_uc001aek.1_Translation_Start_Site	NM_017871	NP_060341	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor	176						Golgi apparatus|nucleus	hydrolase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TCCACTGACCGTGTAGACCAC	0.567													A	1250901	G	A	1250901	3	1	20	1	0	0	0	0	1	0	0	0	3827	1159	40	1	1327	1	CPSF3L	1	1250901	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	361450	1250901	247999720	2	17673											
TAS1R3	83756	broad.mit.edu	37	chr1	1269811	1269811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcccaaggccagaatgaCgggaacacaggaaatcaggg	14	9	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:1269811C>T	uc010nyk.1	+	6	2526	c.2526C>T	c.(2524-2526)GAC>GAT	p.D842D		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	842	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GCCAGAATGACGGGAACACAG	0.612													T	1269811	C	T	1269811	2	4	20	1	0	0	0	0	0	0	0	1	15561	535	19	1		1	TAS1R3	1	1269811	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	18910	1269811	247980810	3	17674											
PLCH2	9651	broad.mit.edu	37	chr1	2411332	2411332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagcagcgaggtggcgcGcacctgggtcactggcctgc	15	15	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:2411332G>A	uc001aji.1	+	3	705	c.431G>A	c.(430-432)CGC>CAC	p.R144H	PLCH2_uc010nyz.1_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	144	PH.|Necessary for plasma membrane localization (By similarity).				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GAGGTGGCGCGCACCTGGGTC	0.667													A	2411332	G	A	2411332	3	1	20	1	0	0	0	0	1	0	0	0	12038	1087	38	1	441	1	PLCH2	1	2411332	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1141521	2411332	246839289	4	17675											
PRDM16	63976	broad.mit.edu	37	chr1	3347517	3347517	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggacgtggaggaggaggaCgacgatgacctggaggagga	21	5	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:3347517C>T	uc001akf.2	+	15	3446	c.3366C>T	c.(3364-3366)GAC>GAT	p.D1122D	PRDM16_uc001akc.2_Silent_p.D1121D|PRDM16_uc001akd.2_Silent_p.D1121D|PRDM16_uc001ake.2_Silent_p.D1122D|PRDM16_uc009vlh.2_Silent_p.D822D	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	1122	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		aggaggaggacgacgatgacc	0.468			T	EVI1	MDS|AML								T	3347517	C	T	3347517	2	4	20	1	0	0	0	0	0	0	0	1	12457	535	19	1		1	PRDM16	1	3347517	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	936185	3347517	245903104	5	17676											
CHD5	26038	broad.mit.edu	37	chr1	6215763	6215763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcggccatgagctgcccCgaggacttgggctcctacag	12	15	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:6215763C>T	uc001amb.1	-	4	502	c.402G>A	c.(400-402)TCG>TCA	p.S134S		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	134					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGAGCTGCCCCGAGGACTTGG	0.612													T	6215763	C	T	6215763	2	4	20	1	0	0	0	0	0	0	0	1	3328	639	23	1		1	CHD5	1	6215763	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2868246	6215763	243034858	6	17677											
DNAJC11	55735	broad.mit.edu	37	chr1	6698426	6698426	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctgcttctccaattcccTtacgcgagaggaacacaagc	7	15	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:6698426T>C	uc001aof.2	-	12	1360	c.1254_splice	c.e12-1	p.K418_splice	DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Splice_Site_p.K366_splice|DNAJC11_uc010nzu.1_Splice_Site_p.K328_splice	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11						protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAATTCCCTTACGCGAGAG	0.632													C	6698426	T	C	6698426	5	2	20	1	0	0	0	0	0	0	1	0	4630	1623	56	3	447	3	DNAJC11	1	6698426	Splice_Site	SNP	T	TCGA-BR-4362-01A-01D-1158-08	482663	6698426	242552195	7	17678											
CAMTA1	23261	broad.mit.edu	37	chr1	7797375	7797375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctgtacaagtgggaccgtCgggccatctcgattcccgac	12	13	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:7797375C>T	uc001aoi.2	+	15	3610	c.3403C>T	c.(3403-3405)CGG>TGG	p.R1135W	CAMTA1_uc010nzv.1_Missense_Mutation_p.R222W|CAMTA1_uc001aok.3_Missense_Mutation_p.R178W|CAMTA1_uc001aoj.2_Missense_Mutation_p.R91W	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GTGGGACCGTCGGGCCATCTC	0.567													T	7797375	C	T	7797375	3	4	20	1	0	0	0	0	1	0	0	0	2613	875	31	1	3461	1	CAMTA1	1	7797375	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1098949	7797375	241453246	8	17679											
RERE	473	broad.mit.edu	37	chr1	8420009	8420010	+	Frame_Shift_Del	DEL	CA	CA	-													gaagtacaggtctgtccgggCacacgagttgtagccccggt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:8420008_8420009GCA>G	uc001ape.3	-	19	4243_4244	c.3433_3434TGC>C	c.(3433-3435)gccfs	p.A1145fs	RERE_uc001apf.3_Frame_Shift_Del_p.A1145fs|RERE_uc001apd.3_Frame_Shift_Del_p.A591fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1145					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTCTGTCCGGGCACACGAGTTG	0.619													-	8420010	CA	-	8420009	7	5	20	1	0	1	0	1	0	0	0	0	13231	710	25	0	1287	0	RERE	1	8420009	Frame_Shift_Del	DEL	CA	TCGA-BR-4362-01A-01D-1158-08	622634	8420009	240830612	9	17680											
PIK3CD	5293	broad.mit.edu	37	chr1	9778917	9778917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctctgctttgcgctgtacGccgtgatcgagaaagccaag	12	11	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:9778917G>A	uc001aqb.3	+	9	1394	c.1186G>A	c.(1186-1188)GCC>ACC	p.A396T	PIK3CD_uc010oaf.1_Missense_Mutation_p.A396T|PIK3CD_uc001aqe.3_Missense_Mutation_p.A361T	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	396					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(4)|skin(2)|central_nervous_system(1)	7	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TGCGCTGTACGCCGTGATCGA	0.647													A	9778917	G	A	9778917	3	1	20	1	0	0	0	0	1	0	0	0	11915	1087	38	1	1212	1	PIK3CD	1	9778917	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1358908	9778917	239471704	10	17681											
MTOR	2475	broad.mit.edu	37	chr1	11300580	11300580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatctgacggctcaggtcGtagagcactgcagtgagggc	16	9	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:11300580G>A	uc001asd.2	-	11	1687	c.1566C>T	c.(1564-1566)TAC>TAT	p.Y522Y		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	522					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						GGCTCAGGTCGTAGAGCACTG	0.522													A	11300580	G	A	11300580	2	1	20	1	0	0	0	0	0	0	0	1	9954	1140	40	1		1	MTOR	1	11300580	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1521663	11300580	237950041	11	17682											
TNFRSF1B	7133	broad.mit.edu	37	chr1	12251952	12251952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcgccgctgcgcaagtgCcgcccgggcttcggcgtggc	17	16	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:12251952C>T	uc001att.2	+	4	518	c.429C>T	c.(427-429)TGC>TGT	p.C143C	TNFRSF1B_uc001atu.2_5'UTR|TNFRSF1B_uc009vnk.2_RNA	NM_001066	NP_001057	P20333	TNR1B_HUMAN	tumor necrosis factor receptor 2 precursor	143	TNFR-Cys 3.|Extracellular (Potential).				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			liver(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	TGCGCAAGTGCCGCCCGGGCT	0.687													T	12251952	C	T	12251952	2	4	20	1	0	0	0	0	0	0	0	1	16291	747	26	2		2	TNFRSF1B	1	12251952	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	951372	12251952	236998669	12	17683											
TNFRSF1B	7133	broad.mit.edu	37	chr1	12262065	12262065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccggggtacacagggcccCgagcagcagcacctgctgat	14	15	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:12262065C>T	uc001att.2	+	9	1031	c.942C>T	c.(940-942)CCC>CCT	p.P314P	TNFRSF1B_uc001atu.2_Silent_p.P119P|TNFRSF1B_uc009vnk.2_RNA	NM_001066	NP_001057	P20333	TNR1B_HUMAN	tumor necrosis factor receptor 2 precursor	314	Cytoplasmic (Potential).				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			liver(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	CACAGGGCCCCGAGCAGCAGC	0.667													T	12262065	C	T	12262065	2	4	20	1	0	0	0	0	0	0	0	1	16291	639	23	1		1	TNFRSF1B	1	12262065	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	10113	12262065	236988556	13	17684											
VPS13D	55187	broad.mit.edu	37	chr1	12416561	12416561	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctcttattctgctatgcTgacaaagagcagccaaacct	6	13	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:12416561T>C	uc001atv.2	+	49	10119	c.9978T>C	c.(9976-9978)GCT>GCC	p.A3326A	VPS13D_uc001atw.2_Silent_p.A3301A|VPS13D_uc001atx.2_Silent_p.A2513A	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3325					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTGCTATGCTGACAAAGAGC	0.473													C	12416561	T	C	12416561	2	2	20	1	0	0	0	0	0	0	0	1	17189	1567	55	3		3	VPS13D	1	12416561	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	154496	12416561	236834060	14	17685											
LOC649330	649330	broad.mit.edu	37	chr1	12907413	12907413	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcagcagagtcttctgCacccccctcagactccatct	5	19	5	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:12907413C>A	uc009vno.2	-	1	825	c.730G>T	c.(730-732)GCA>TCA	p.A244S	HNRNPCL1_uc010obf.1_Missense_Mutation_p.A244S	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	244							nucleic acid binding|nucleotide binding				0						GAGTCTTCTGCACCCCCCTCA	0.488													A	12907413	C	A	12907413	3	1	20	1	0	0	0	0	1	0	0	0	8885	710	25	5	155	5	LOC649330	1	12907413	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	490852	12907413	236343208	15	17686											
LOC649330	649330	broad.mit.edu	37	chr1	12907705	12907705	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgtttcctgatagacgTtgacgtttcgagggcactac	13	8	0	3	rs2359482	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:12907705T>G	uc009vno.2	-	1	533	c.438A>C	c.(436-438)CAA>CAC	p.Q146H	HNRNPCL1_uc010obf.1_Missense_Mutation_p.Q146H	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	146							nucleic acid binding|nucleotide binding				0						CTGATAGACGTTGACGTTTCG	0.488													G	12907705	T	G	12907705	3	3	20	1	0	0	0	0	1	0	0	0	8885	1722	60	5	447	5	LOC649330	1	12907705	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	292	12907705	236342916	16	17687											
LOC649330	649330	broad.mit.edu	37	chr1	12907787	12907787	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgtacattccatcataaTaatcccgttgaaagccatag	5	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:12907787T>C	uc009vno.2	-	1	451	c.356A>G	c.(355-357)TAT>TGT	p.Y119C	HNRNPCL1_uc010obf.1_Missense_Mutation_p.Y119C	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	119							nucleic acid binding|nucleotide binding				0						TCCATCATAATAATCCCGTTG	0.507													C	12907787	T	C	12907787	3	2	20	1	0	0	0	0	1	0	0	0	8885	1406	49	3	529	3	LOC649330	1	12907787	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	82	12907787	236342834	17	17688											
PRAMEF22	653606	broad.mit.edu	37	chr1	13036638	13036638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccagatgaggaatcttcGcaaactcttcatctccgatg	9	11	4	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:13036638G>A	uc009vnq.1	+	2	710	c.710G>A	c.(709-711)CGC>CAC	p.R237H	PRAMEF5_uc001aur.2_Intron	NM_001100631	NP_001094101	A3QJZ6	PRA22_HUMAN	PRAME family member 22	237											0						AGGAATCTTCGCAAACTCTTC	0.478													A	13036638	G	A	13036638	3	1	20	1	0	0	0	0	1	0	0	0	12436	1087	38	1	716	1	PRAMEF22	1	13036638	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	128851	13036638	236213983	18	17689											
SPEN	23013	broad.mit.edu	37	chr1	16255783	16255783	+	Frame_Shift_Del	DEL	A	A	-													gaggatgctcgcgtgctttcAaaaaagcagcctgacgtgtc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:16255782_16255782CA>C	uc001axk.1	+	10	3251	c.3047_3047CA>C	c.(3046-3048)tcafs	p.S1016fs	SPEN_uc010obp.1_Frame_Shift_Del_p.S975fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1016					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGCGTGCTTTCAAAAAAGCAG	0.453													-	16255783	A	-	16255783	7	5	20	1	0	1	0	1	0	0	0	0	15037	117	5	0	3090	0	SPEN	1	16255783	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	3219145	16255783	232994838	19	17690											
SPEN	23013	broad.mit.edu	37	chr1	16256980	16256980	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggacagagaagacaagctAcgtgagcgagatgaaagact	14	6	0	6			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:16256980A>G	uc001axk.1	+	11	4449	c.4245A>G	c.(4243-4245)CTA>CTG	p.L1415L	SPEN_uc010obp.1_Silent_p.L1374L	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1415	Potential.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGACAAGCTACGTGAGCGAG	0.403													G	16256980	A	G	16256980	2	3	20	1	0	0	0	0	0	0	0	1	15037	378	14	3		3	SPEN	1	16256980	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1197	16256980	232993641	20	17691											
CLCNKA	1187	broad.mit.edu	37	chr1	16377465	16377465	+	Frame_Shift_Del	DEL	C	C	-													ccctggcccgaggagctcgaCccccagcacctgtggtggga							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:16377464_16377464AC>A	uc001axx.4	+	11	1284	c.1148_1148AC>A	c.(1147-1149)gacfs	p.D383fs	CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_Frame_Shift_Del_p.D214fs|CLCNKA_uc001axy.4_Frame_Shift_Del_p.D214fs	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	383					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GAGGAGCTCGACCCCCAGCAC	0.627													-	16377465	C	-	16377465	7	5	20	1	0	1	0	1	0	0	0	0	3469	506	18	0		0	CLCNKA	1	16377465	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	120485	16377465	232873156	21	17692											
CLCNKB	1188	broad.mit.edu	37	chr1	16380237	16380237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttgtgacctccacagacGtggccaagtatcccctggtg	12	12	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:16380237G>A	uc001axw.3	+	16	1806	c.1726G>A	c.(1726-1728)GTG>ATG	p.V576M	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.V576M|CLCNKB_uc001axy.3_Missense_Mutation_p.V407M	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	576	CBS 1.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCACAGACGTGGCCAAGTA	0.597													A	16380237	G	A	16380237	3	1	20	1	0	0	0	0	1	0	0	0	3470	1145	40	1	1932	1	CLCNKB	1	16380237	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2772	16380237	232870384	22	17693											
EPHA2	1969	broad.mit.edu	37	chr1	16462199	16462199	+	Frame_Shift_Del	DEL	G	G	-													acactcggctctgctgcggcGgggggatgctccaggagacg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:16462198_16462198CG>C	uc001aya.2	-	5	1535	c.1380_1380CG>G	c.(1378-1380)ccgfs	p.P460fs	EPHA2_uc010oca.2_Frame_Shift_Del_p.P460fs	NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	460	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	p.P460fs*33(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TCTGCTGCGGCGGGGGGATGC	0.662													-	16462199	G	-	16462199	7	5	20	1	0	1	0	1	0	0	0	0	5167	1116	39	0	1599	0	EPHA2	1	16462199	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	81962	16462199	232788422	23	17694											
C1orf89	79363	broad.mit.edu	37	chr1	16560163	16560163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccagcttggccaccagcGccgtcttgcccacaccactc	8	20	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:16560163G>A	uc001ayd.2	-	2	631	c.209C>T	c.(208-210)GCG>GTG	p.A70V		NM_030907	NP_112169	Q9BU20	RSG1_HUMAN	hypothetical protein LOC79363	70	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding				0		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.2e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCACCAGCGCCGTCTTGCC	0.632													A	16560163	G	A	16560163	3	1	20	1	0	0	0	0	1	0	0	0	2066	1087	38	1	583	1	C1orf89	1	16560163	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	97964	16560163	232690458	24	17695											
UBR4	23352	broad.mit.edu	37	chr1	19443800	19443800	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	catcttggtccgtttcagatCcccgattttcactgtcactt	6	13	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:19443800C>G	uc001bbi.2	-	73	10742	c.10738G>C	c.(10738-10740)GAT>CAT	p.D3580H	UBR4_uc001bbj.1_5'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3580					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CGTTTCAGATCCCCGATTTTC	0.498													G	19443800	C	G	19443800	3	3	20	1	0	0	0	0	1	0	0	0	16901	855	30	5	4949	5	UBR4	1	19443800	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2883637	19443800	229806821	25	17696											
UBR4	23352	broad.mit.edu	37	chr1	19473420	19473420	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcactagcctctggaacacCtcagggtccaaatccttgcc	7	15	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:19473420C>A	uc001bbi.2	-	52	7708	c.7704G>T	c.(7702-7704)GAG>GAT	p.E2568D	UBR4_uc001bbk.1_Missense_Mutation_p.E222D	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2568					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTGGAACACCTCAGGGTCCA	0.527													A	19473420	C	A	19473420	3	1	20	1	0	0	0	0	1	0	0	0	16901	680	24	5	8067	5	UBR4	1	19473420	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	29620	19473420	229777201	26	17697											
TMCO4	255104	broad.mit.edu	37	chr1	20097887	20097887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctccttcacctcccaggcCgctcgcaaaagcagtcatgg	9	16	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:20097887C>T	uc001bcn.2	-	5	510	c.268G>A	c.(268-270)GGC>AGC	p.G90S	TMCO4_uc001bcm.2_Missense_Mutation_p.G90S|TMCO4_uc001bco.1_Missense_Mutation_p.G90S|TMCO4_uc001bcp.1_Missense_Mutation_p.G90S|TMCO4_uc009vpn.1_Missense_Mutation_p.G90S|TMCO4_uc001bcq.1_Missense_Mutation_p.G90S	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	90						integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CCTCCCAGGCCGCTCGCAAAA	0.537													T	20097887	C	T	20097887	3	4	20	1	0	0	0	0	1	0	0	0	15995	652	23	1	1684	1	TMCO4	1	20097887	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	624467	20097887	229152734	27	17698											
PINK1	65018	broad.mit.edu	37	chr1	20971112	20971112	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgatgtgctgccctcacgCctccaccctgaaggcctggg	11	17	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:20971112C>T	uc001bdm.2	+	4	1000	c.906C>T	c.(904-906)CGC>CGT	p.R302R		NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1 precursor	302	Protein kinase.|Cytoplasmic (Potential).				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			ovary(2)|central_nervous_system(1)	3		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGCCCTCACGCCTCCACCCTG	0.637													T	20971112	C	T	20971112	2	4	20	1	0	0	0	0	0	0	0	1	11932	726	26	2		2	PINK1	1	20971112	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	873225	20971112	228279509	28	17699											
RAP1GAP	5909	broad.mit.edu	37	chr1	21936094	21936094	+	Frame_Shift_Del	DEL	G	G	-													gaacacagcggggtccgggaGggggggtccaaagaagggca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:21936093_21936093AG>A	uc001bev.3	-	11	1064	c.1046_1046CT>T	c.(1045-1047)ctcfs	p.L349fs	RAP1GAP_uc001bew.3_Frame_Shift_Del_p.L413fs|RAP1GAP_uc001bey.3_Frame_Shift_Del_p.L349fs|RAP1GAP_uc001bex.3_Frame_Shift_Del_p.L349fs	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	349	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGGGTCCGGGAGGGGGGGTCC	0.637													-	21936094	G	-	21936094	7	5	20	1	0	1	0	1	0	0	0	0	13037	1000	35	0	1068	0	RAP1GAP	1	21936094	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	964982	21936094	227314527	29	17700											
TCEB3	6924	broad.mit.edu	37	chr1	24078022	24078024	+	In_Frame_Del	DEL	GAA	GAA	-													gacagagagggcagcagcctGaagaagaagtgtttgcctcc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:24078021_24078023TGAA>T	uc001bho.3	+	3	1064_1066	c.1004_1006TGAA>T	c.(1003-1008)ctgaag>cTag	p.K338del		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	338					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	p.K312delK(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GGCAGCAGCCTGAAGAAGAAGTG	0.527											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	24078024	GAA	-	24078022	7	5	20	1	0	1	0	1	0	0	0	0	15678	1277	45	0	1019	0	TCEB3	1	24078022	In_Frame_Del	DEL	GAA	TCGA-BR-4362-01A-01D-1158-08	2141928	24078022	225172599	30	17701											
SRRM1	10250	broad.mit.edu	37	chr1	24995729	24995729	+	Frame_Shift_Del	DEL	C	C	-													gaagaacggcttcacctcctCcccctcctaaacgaagagca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:24995728_24995728TC>T	uc001bjm.3	+	13	2078	c.1854_1854TC>T	c.(1852-1854)cctfs	p.P618fs	SRRM1_uc010oel.2_Frame_Shift_Del_p.P630fs|SRRM1_uc009vrh.1_Frame_Shift_Del_p.P591fs|SRRM1_uc009vri.1_Frame_Shift_Del_p.P547fs	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	618	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CTTCACCTCCTCCCCCTCCTA	0.552													-	24995729	C	-	24995729	7	5	20	1	0	1	0	1	0	0	0	0	15167	855	30	0	1909	0	SRRM1	1	24995729	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	917707	24995729	224254892	31	17702											
TMEM57	55219	broad.mit.edu	37	chr1	25775375	25775376	+	Frame_Shift_Ins	INS	-	-	T													ttcatccccatacagtggctINStttttttgctgctagcacat							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:25775374_25775375C>CT	uc001bkk.3	+	2	500_501	c.298_299C>CT	c.(298-300)cttfs	p.L100fs	TMEM57_uc009vru.3_Frame_Shift_Ins_p.L100fs|TMEM57_uc009vrv.3_Intron|TMEM57_uc009vrt.2_Non-coding_Transcript	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	100						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CATACAGTGGCTTTTTTTTGCT	0.342													T	25775376	-	T	25775375	7	5	20	1	0	1	1	0	0	0	0	0	16181	1609	56	0	309	0	TMEM57	1	25775375	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	779646	25775375	223475246	32	17703											
CNKSR1	10256	broad.mit.edu	37	chr1	26515141	26515141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagacacatcacctgcagCcacccccacacagcgcagcc	8	19	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:26515141C>T	uc001bln.3	+	19	1722	c.1664C>T	c.(1663-1665)GCC>GTC	p.A555V	CNKSR1_uc001blm.3_Missense_Mutation_p.A548V|CNKSR1_uc009vsd.2_Missense_Mutation_p.A290V|CNKSR1_uc009vse.2_Missense_Mutation_p.A290V|CNKSR1_uc001blo.2_Missense_Mutation_p.A290V|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.1_5'Flank|CATSPER4_uc009vsf.2_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras	555					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			lung(1)|kidney(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCTGCAGCCACCCCCACA	0.652													T	26515141	C	T	26515141	3	4	20	1	0	0	0	0	1	0	0	0	3606	739	26	2	1717	2	CNKSR1	1	26515141	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	739766	26515141	222735480	33	17704											
ZNF683	257101	broad.mit.edu	37	chr1	26691467	26691467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtatccagggtagaaggcGtggaggagaaatgggagctc	19	5	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:26691467G>A	uc001bmg.1	-	4	688	c.570C>T	c.(568-570)CAC>CAT	p.H190H	ZNF683_uc001bmh.1_Silent_p.H190H|ZNF683_uc009vsj.1_Silent_p.H190H	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	zinc finger protein 683	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGTAGAAGGCGTGGAGGAGAA	0.612													A	26691467	G	A	26691467	2	1	20	1	0	0	0	0	0	0	0	1	18087	1136	40	1		1	ZNF683	1	26691467	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	176326	26691467	222559154	34	17705											
ARID1A	8289	broad.mit.edu	37	chr1	27099053	27099053	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagcagttccatggcagaaGgaggagacttaaagccacca	11	11	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:27099053G>T	uc001bmv.1	+	13	3842	c.3469G>T	c.(3469-3471)GGA>TGA	p.G1157*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.G1157*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.G1157*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.G774*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.G4*|ARID1A_uc009vsm.1_5'Flank|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1157					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATGGCAGAAGGAGGAGACTT	0.557			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								T	27099053	G	T	27099053	4	4	20	1	0	0	0	0	0	1	0	0	913	1001	35	5	3519	5	ARID1A	1	27099053	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	407586	27099053	222151568	35	17706											
ARID1A	8289	broad.mit.edu	37	chr1	27105617	27105617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgacccaggacagagaaCgctactggatcctgggaggt	16	9	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:27105617C>T	uc001bmv.1	+	20	5601	c.5228C>T	c.(5227-5229)ACG>ATG	p.T1743M	ARID1A_uc001bmu.1_Missense_Mutation_p.T1526M|ARID1A_uc001bmx.1_Missense_Mutation_p.T589M|ARID1A_uc009vsm.1_Missense_Mutation_p.T71M|ARID1A_uc009vsn.1_Translation_Start_Site	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1743					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGACAGAGAACGCTACTGGAT	0.493			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								T	27105617	C	T	27105617	3	4	20	1	0	0	0	0	1	0	0	0	913	536	19	1	5306	1	ARID1A	1	27105617	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	6564	27105617	222145004	36	17707											
ARID1A	8289	broad.mit.edu	37	chr1	27105931	27105932	+	Frame_Shift_Ins	INS	-	-	G													gctgcactggcggattggtgINSggggggacaccactgagcat					rs140055856		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:27105930_27105931T>TG	uc001bmv.1	+	19	5914_5915	c.5541_5542T>TG	c.(5539-5544)ggtgggfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Ins_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Ins_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Ins_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(6)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								G	27105932	-	G	27105931	7	5	20	1	0	1	1	0	0	0	0	0	913	1348	47	0	5620	0	ARID1A	1	27105931	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	314	27105931	222144690	37	17708											
TMEM222	84065	broad.mit.edu	37	chr1	27660540	27660540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgaggagtacaagcacCgcatggtaggtgggccaggg	16	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:27660540C>T	uc001bnr.3	+	4	456	c.403C>T	c.(403-405)CGC>TGC	p.R135C	TMEM222_uc001bns.3_RNA|TMEM222_uc001bnt.3_RNA|TMEM222_uc001bnu.3_RNA	NM_032125	NP_115501	Q9H0R3	TM222_HUMAN	transmembrane protein 222	135	Cytoplasmic (Potential).					integral to membrane	protein binding				0						GTACAAGCACCGCATGGTAGG	0.672													T	27660540	C	T	27660540	3	4	20	1	0	0	0	0	1	0	0	0	16142	652	23	1	417	1	TMEM222	1	27660540	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	554609	27660540	221590081	38	17709											
PPP1R8	5511	broad.mit.edu	37	chr1	28176655	28176655	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctggaggaatcagggagcAggcgcatgcagaactttgcc	15	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:28176655A>G	uc001bov.1	+	7	808	c.754A>G	c.(754-756)AGG>GGG	p.R252G	PPP1R8_uc001bow.1_Missense_Mutation_p.R110G|PPP1R8_uc001box.1_Missense_Mutation_p.R28G|PPP1R8_uc009vtc.1_RNA|PPP1R8_uc009vtd.1_RNA	NM_014110	NP_054829	Q12972	PP1R8_HUMAN	protein phosphatase 1 regulatory inhibitor	252					mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding				0		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		ATCAGGGAGCAGGCGCATGCA	0.607													G	28176655	A	G	28176655	3	3	20	1	0	0	0	0	1	0	0	0	12377	179	7	3	780	3	PPP1R8	1	28176655	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	516115	28176655	221073966	39	17710											
EPB41	2035	broad.mit.edu	37	chr1	29359759	29359759	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagattcggcctggagaggTacagaatttatatttccttc	9	8	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:29359759T>C	uc001brm.1	+	8	1372	c.1365_splice	c.e8+2	p.E455_splice	EPB41_uc001brg.1_Splice_Site_p.E246_splice|EPB41_uc001brh.1_Splice_Site_p.E246_splice|EPB41_uc001bri.1_Splice_Site_p.E420_splice|EPB41_uc001brj.1_Splice_Site_p.E246_splice|EPB41_uc009vtk.1_Splice_Site_p.E420_splice|EPB41_uc001brk.2_Splice_Site_p.E455_splice|EPB41_uc001brl.1_Splice_Site_p.E455_splice|EPB41_uc009vtl.1_Splice_Site_p.E246_splice|EPB41_uc009vtm.1_Splice_Site_p.E88_splice	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1						blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			ovary(1)	1		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CCTGGAGAGGTACAGAATTTA	0.378													C	29359759	T	C	29359759	5	2	20	1	0	0	0	0	0	0	1	0	5151	1652	57	3	1397	3	EPB41	1	29359759	Splice_Site	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1183104	29359759	219890862	40	17711											
SFRS4	6429	broad.mit.edu	37	chr1	29485950	29485950	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taagtctgtactctgtgcgaGtaggagggccatatttatct	11	7	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:29485950G>C	uc001bro.2	-	3	672	c.299C>G	c.(298-300)ACT>AGT	p.T100S	SFRS4_uc010ofy.1_Missense_Mutation_p.T100S|SFRS4_uc009vtp.2_RNA	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	splicing factor, arginine/serine-rich 4	100					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding				0		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)		CTCTGTGCGAGTAGGAGGGCC	0.423													C	29485950	G	C	29485950	3	2	20	1	0	0	0	0	1	0	0	0	14179	1029	36	5	1201	5	SFRS4	1	29485950	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	126191	29485950	219764671	41	17712											
COL16A1	1307	broad.mit.edu	37	chr1	32157657	32157657	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcctccgtcgcccttctcGcctttctggccctggggaag	11	16	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:32157657G>A	uc001btk.1	-	17	1571	c.1206C>T	c.(1204-1206)GGC>GGT	p.G402G	COL16A1_uc001btj.1_Silent_p.G231G|COL16A1_uc001btl.3_Silent_p.G402G	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	402	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CGCCCTTCTCGCCTTTCTGGC	0.647													A	32157657	G	A	32157657	2	1	20	1	0	0	0	0	0	0	0	1	3673	1074	38	1		1	COL16A1	1	32157657	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2671707	32157657	217092964	42	17713											
SPOCD1	90853	broad.mit.edu	37	chr1	32263883	32263883	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctcatccgcaccaggtcGtagggggtgacatctccatg	13	12	2	1	rs144387561	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:32263883G>A	uc001bts.1	-	9	2128	c.2070C>T	c.(2068-2070)TAC>TAT	p.Y690Y	SPOCD1_uc001btt.2_Translation_Start_Site|SPOCD1_uc001btu.2_Silent_p.Y690Y|SPOCD1_uc001btv.2_Silent_p.Y183Y|SPOCD1_uc001btw.1_Silent_p.Y34Y	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	690	TFIIS central.				transcription, DNA-dependent					ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GCACCAGGTCGTAGGGGGTGA	0.622													A	32263883	G	A	32263883	2	1	20	1	0	0	0	0	0	0	0	1	15077	1140	40	1		1	SPOCD1	1	32263883	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	106226	32263883	216986738	43	17714											
MARCKSL1	65108	broad.mit.edu	37	chr1	32801580	32801580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgcgggggaagcgcctgCtgcctcctcggcggtcacgt	15	15	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:32801580C>T	uc001bvd.2	-	1	255	c.55G>A	c.(55-57)GCA>ACA	p.A19T		NM_023009	NP_075385	P49006	MRP_HUMAN	MARCKS-like 1	19						plasma membrane	calmodulin binding			ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GAAGCGCCTGCTGCCTCCTCG	0.711													T	32801580	C	T	32801580	3	4	20	1	0	0	0	0	1	0	0	0	9310	797	28	2	540	2	MARCKSL1	1	32801580	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	537697	32801580	216449041	44	17715											
C1orf94	84970	broad.mit.edu	37	chr1	34663085	34663085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtggccatgcccgttAtcagcagcaggcaggactgt	14	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:34663085A>G	uc001bxs.3	+	2	409	c.10A>G	c.(10-12)ATC>GTC	p.I4V	C1orf94_uc001bxt.2_Missense_Mutation_p.I194V	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	4							protein binding				0		Myeloproliferative disorder(586;0.0393)				CATGCCCGTTATCAGCAGCAG	0.577													G	34663085	A	G	34663085	3	3	20	1	0	0	0	0	1	0	0	0	2071	449	16	3	586	3	C1orf94	1	34663085	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1861505	34663085	214587536	45	17716											
NCDN	23154	broad.mit.edu	37	chr1	36031043	36031043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgccctggctggcccccGctgccctgcgctcccgctgg	13	20	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:36031043G>A	uc001bza.2	+	8	2096	c.1969G>A	c.(1969-1971)GCT>ACT	p.A657T	NCDN_uc001bzb.2_Missense_Mutation_p.A657T|NCDN_uc001bzc.2_Missense_Mutation_p.A640T	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	657					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCTGGCCCCCGCTGCCCTGCG	0.677													A	36031043	G	A	36031043	3	1	20	1	0	0	0	0	1	0	0	0	10214	1087	38	1	1995	1	NCDN	1	36031043	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1367958	36031043	213219578	46	17717											
THRAP3	9967	broad.mit.edu	37	chr1	36748267	36748267	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagtctcggtcccgaagcCgatctctctctcgttcaagg	10	14	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:36748267C>T	uc001cae.3	+	3	327	c.103C>T	c.(103-105)CGA>TGA	p.R35*	THRAP3_uc001caf.3_Nonsense_Mutation_p.R35*|THRAP3_uc001cag.1_Nonsense_Mutation_p.R35*	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	35	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCCCGAAGCCGATCTCTCTC	0.458			T	USP6	aneurysmal bone cysts								T	36748267	C	T	36748267	4	4	20	1	0	0	0	0	0	1	0	0	15871	644	23	1	105	1	THRAP3	1	36748267	Nonsense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	717224	36748267	212502354	47	17718											
THRAP3	9967	broad.mit.edu	37	chr1	36769580	36769580	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgagagtgggacagagaacCgagaagagaaggacaatata	14	5	0	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:36769580C>T	uc001cae.3	+	12	3054	c.2830C>T	c.(2830-2832)CGA>TGA	p.R944*	THRAP3_uc001caf.3_Nonsense_Mutation_p.R944*|C1orf113_uc010oia.1_5'Flank	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	944					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GACAGAGAACCGAGAAGAGAA	0.572			T	USP6	aneurysmal bone cysts								T	36769580	C	T	36769580	4	4	20	1	0	0	0	0	0	1	0	0	15871	644	23	1	2868	1	THRAP3	1	36769580	Nonsense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	21313	36769580	212481041	48	17719											
EPHA10	284656	broad.mit.edu	37	chr1	38227422	38227422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgttcagcttcatcttgcGctcacccaggtcgccctgcg	10	15	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:38227422G>A	uc009vvi.2	-	3	591	c.505C>T	c.(505-507)CGC>TGC	p.R169C	EPHA10_uc001cbw.3_Missense_Mutation_p.R169C	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	169	Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTCATCTTGCGCTCACCCAGG	0.687													A	38227422	G	A	38227422	3	1	20	1	0	0	0	0	1	0	0	0	5166	1087	38	1	2619	1	EPHA10	1	38227422	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1457842	38227422	211023199	49	17720											
MTF1	4520	broad.mit.edu	37	chr1	38304325	38304325	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttttcccctgtatgagttcGaatgtgcttcctcagatcac	7	12	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:38304325G>A	uc001cce.1	-	4	892	c.751C>T	c.(751-753)CGA>TGA	p.R251*	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	251	C2H2-type 4.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTATGAGTTCGAATGTGCTTC	0.438													A	38304325	G	A	38304325	4	1	20	1	0	0	0	0	0	1	0	0	9922	1066	37	1	1542	1	MTF1	1	38304325	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	76903	38304325	210946296	50	17721											
UTP11L	51118	broad.mit.edu	37	chr1	38478539	38478539	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacagagagcgaagccaggTaggaccatacaggccccaca	11	13	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:38478539T>C	uc001ccn.3	+	1	154	c.63_splice	c.e1+2	p.Q21_splice	UTP11L_uc009vvm.2_Splice_Site|UTP11L_uc010oil.1_Splice_Site	NM_016037	NP_057121	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar						induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGAAGCCAGGTAGGACCATAC	0.587													C	38478539	T	C	38478539	5	2	20	1	0	0	0	0	0	0	1	0	17091	1652	57	3	67	3	UTP11L	1	38478539	Splice_Site	SNP	T	TCGA-BR-4362-01A-01D-1158-08	174214	38478539	210772082	51	17722											
ZNF684	127396	broad.mit.edu	37	chr1	41007384	41007384	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacacgagagctctccaggTgagtgagagaaattcagatg	12	9	2	5			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:41007384T>C	uc001cft.1	+	4	489	c.238_splice	c.e4+2	p.E80_splice		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	zinc finger protein 684						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			GCTCTCCAGGTGAGTGAGAGA	0.483													C	41007384	T	C	41007384	5	2	20	1	0	0	0	0	0	0	1	0	18088	1710	59	3	250	3	ZNF684	1	41007384	Splice_Site	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2528845	41007384	208243237	52	17723											
ERMAP	114625	broad.mit.edu	37	chr1	43308594	43308594	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcatctctttctacaaTgtgaccaacaagtcccacat	6	12	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:43308594T>C	uc001cic.1	+	12	1389	c.1119T>C	c.(1117-1119)AAT>AAC	p.N373N	ERMAP_uc001cid.1_RNA|ERMAP_uc001cie.1_Silent_p.N373N|ERMAP_uc001cif.1_Silent_p.N283N	NM_001017922	NP_001017922	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein	373	Cytoplasmic (Potential).|B30.2/SPRY.		Missing (in Sc-3 allele).			integral to membrane|plasma membrane				ovary(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTTTCTACAATGTGACCAACA	0.493													C	43308594	T	C	43308594	2	2	20	1	0	0	0	0	0	0	0	1	5234	1461	51	3		3	ERMAP	1	43308594	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2301210	43308594	205942027	53	17724											
ZNF691	51058	broad.mit.edu	37	chr1	43317175	43317175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttcagccagagtgccacGctagctgtgcatcaccggac	11	14	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:43317175G>A	uc001cih.2	+	2	678	c.627G>A	c.(625-627)ACG>ACA	p.T209T	ZNF691_uc001cig.2_Silent_p.T182T|ZNF691_uc009vwm.2_Silent_p.T202T	NM_015911	NP_056995	Q5VV52	ZN691_HUMAN	zinc finger protein 691	213	C2H2-type 4.					nucleus	DNA binding|zinc ion binding			ovary(2)	2	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGAGTGCCACGCTAGCTGTGC	0.602													A	43317175	G	A	43317175	2	1	20	1	0	0	0	0	0	0	0	1	18093	1074	38	1		1	ZNF691	1	43317175	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	8581	43317175	205933446	54	17725											
TMEM125	128218	broad.mit.edu	37	chr1	43738845	43738845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgccatgctgtctgtggGcattgctctggctgccttgg	15	12	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:43738845G>A	uc001cir.2	+	4	1022	c.452G>A	c.(451-453)GGC>GAC	p.G151D	EBNA1BP2_uc001cio.2_5'Flank|TMEM125_uc001cis.2_Missense_Mutation_p.G151D	NM_144626	NP_653227	Q96AQ2	TM125_HUMAN	transmembrane protein 125	151	Helical; (Potential).					integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGTCTGTGGGCATTGCTCTG	0.687													A	43738845	G	A	43738845	3	1	20	1	0	0	0	0	1	0	0	0	16034	1203	42	2	454	2	TMEM125	1	43738845	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	421670	43738845	205511776	55	17726											
DPH2	1802	broad.mit.edu	37	chr1	44438134	44438134	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagggctggagccccgcctgGgtcagacgccagtgacagaa	15	12	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:44438134G>T	uc001ckz.2	+	6	1588	c.1393G>T	c.(1393-1395)GGT>TGT	p.G465C	DPH2_uc001cla.2_Missense_Mutation_p.G237C|DPH2_uc010okk.1_Missense_Mutation_p.G330C|DPH2_uc001clb.2_Missense_Mutation_p.G389C|ATP6V0B_uc001clc.2_5'Flank|ATP6V0B_uc001cld.2_5'Flank|ATP6V0B_uc001cle.2_5'Flank|ATP6V0B_uc001clf.2_5'Flank	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	diphthamide biosynthesis protein 2 isoform a	465					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GCCCCGCCTGGGTCAGACGCC	0.587													T	44438134	G	T	44438134	3	4	20	1	0	0	0	0	1	0	0	0	4720	1232	43	5	1415	5	DPH2	1	44438134	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	699289	44438134	204812487	56	17727											
TMEM53	79639	broad.mit.edu	37	chr1	45120336	45120336	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgacacgaaatccacagaAcgcgccaggacccggcgtgc	12	14	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:45120336A>G	uc001cmc.2	-	3	765	c.729T>C	c.(727-729)CGT>CGC	p.R243R	TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_Silent_p.R170R|TMEM53_uc009vxh.1_Silent_p.R126R|TMEM53_uc010ola.1_Silent_p.R126R	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	243						integral to membrane				ovary(2)	2	Acute lymphoblastic leukemia(166;0.155)					AATCCACAGAACGCGCCAGGA	0.597													G	45120336	A	G	45120336	2	3	20	1	0	0	0	0	0	0	0	1	16176	30	2	3		3	TMEM53	1	45120336	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	682202	45120336	204130285	57	17728											
TCTEX1D4	343521	broad.mit.edu	37	chr1	45271717	45271717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgtggccaccgcgaagagCgaggtgttggtgtaggagac	17	9	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:45271717C>T	uc001cmp.2	-	2	1133	c.624G>A	c.(622-624)TCG>TCA	p.S208S	BTBD19_uc010old.1_5'Flank|BTBD19_uc010ole.1_5'Flank	NM_001013632	NP_001013654	Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	208										pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					CCGCGAAGAGCGAGGTGTTGG	0.662													T	45271717	C	T	45271717	2	4	20	1	0	0	0	0	0	0	0	1	15718	755	27	1		1	TCTEX1D4	1	45271717	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	151381	45271717	203978904	58	17729											
DMBX1	127343	broad.mit.edu	37	chr1	46972783	46972783	+	Frame_Shift_Del	DEL	C	C	-													agcccagcaggcccagcatgCccccgactaccggccttcag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:46972782_46972782GC>G	uc001cpx.3	+	0	115	c.100_100GC>G	c.(100-102)gccfs	p.A34fs	DMBX1_uc001cpw.3_Frame_Shift_Del_p.A34fs	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	34	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GGCCCAGCATGCCCCCGACTA	0.632													-	46972783	C	-	46972783	7	5	20	1	0	1	0	1	0	0	0	0	4578	739	26	0	103	0	DMBX1	1	46972783	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	1701066	46972783	202277838	59	17730											
KIAA0494	9813	broad.mit.edu	37	chr1	47144226	47144226	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctctggttctggcatagcAgaacctagggaggtccagat	12	10	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:47144226A>G	uc001cqk.3	-	11	2372	c.1395T>C	c.(1393-1395)TCT>TCC	p.S465S	KIAA0494_uc010omh.1_Intron|KIAA0494_uc010omj.1_Silent_p.S257S	NM_014774	NP_055589	O75071	K0494_HUMAN	hypothetical protein LOC9813	465	EF-hand 2.						calcium ion binding				0	Acute lymphoblastic leukemia(166;0.155)					CTGGCATAGCAGAACCTAGGG	0.468													G	47144226	A	G	47144226	2	3	20	1	0	0	0	0	0	0	0	1	8179	175	7	3		3	KIAA0494	1	47144226	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	171443	47144226	202106395	60	17731											
TXNDC12	51060	broad.mit.edu	37	chr1	52492989	52492989	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttatgggagagttctgaaatTtccgtagattctgcaaattt	9	5	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:52492989T>A	uc001cti.2	-	4	522	c.243A>T	c.(241-243)GAA>GAT	p.E81D		NM_015913	NP_056997	O95831	AIFM1_HUMAN	thioredoxin domain containing 12 precursor	329	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			ovary(1)	1						GTTCTGAAATTTCCGTAGATT	0.328													A	52492989	T	A	52492989	3	1	20	1	0	0	0	0	1	0	0	0	16790	1838	64	5	291	5	TXNDC12	1	52492989	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	5348763	52492989	196757632	61	17732											
ORC1L	4998	broad.mit.edu	37	chr1	52840492	52840492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagatcacctgttgaaacGtggcttcctccagtcctgat	10	11	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:52840492G>A	uc001ctt.2	-	16	2600	c.2381C>T	c.(2380-2382)ACG>ATG	p.T794M	ORC1L_uc010oni.1_Missense_Mutation_p.T789M|ORC1L_uc001ctu.2_Missense_Mutation_p.T794M|ORC1L_uc009vzd.2_Missense_Mutation_p.T548M	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	794	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0						CTGTTGAAACGTGGCTTCCTC	0.438													A	52840492	G	A	52840492	3	1	20	1	0	0	0	0	1	0	0	0	11261	1145	40	1	212	1	ORC1L	1	52840492	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	347503	52840492	196410129	62	17733											
FAM159A	348378	broad.mit.edu	37	chr1	53108573	53108573	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtccgtagcagcagtggTtcttctcgccttcattgtta	9	12	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:53108573T>C	uc001cuf.2	+	2	321	c.221T>C	c.(220-222)GTT>GCT	p.V74A	FAM159A_uc001cug.1_RNA|FAM159A_uc001cuh.2_RNA	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN	hypothetical protein LOC348378	74	Helical; (Potential).					integral to membrane					0						GCAGCAGTGGTTCTTCTCGCC	0.532													C	53108573	T	C	53108573	3	2	20	1	0	0	0	0	1	0	0	0	5468	1725	60	3	227	3	FAM159A	1	53108573	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	268081	53108573	196142048	63	17734											
PODN	127435	broad.mit.edu	37	chr1	53543377	53543377	+	Frame_Shift_Del	DEL	C	C	-													aacaacaagctggagaagatCcccccgggggccttcagcga							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:53543376_53543376TC>T	uc001cuv.3	+	6	1070	c.902_902TC>T	c.(901-903)atcfs	p.I301fs	PODN_uc010onr.2_Frame_Shift_Del_p.I282fs|PODN_uc010ons.2_Frame_Shift_Del_p.I159fs|PODN_uc001cuw.3_Frame_Shift_Del_p.I282fs	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	253					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTGGAGAAGATCCCCCCGGGG	0.617													-	53543377	C	-	53543377	7	5	20	1	0	1	0	1	0	0	0	0	12178	845	30	0	929	0	PODN	1	53543377	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	434804	53543377	195707244	64	17735											
FAM151A	338094	broad.mit.edu	37	chr1	55081757	55081757	+	Frame_Shift_Del	DEL	G	G	-													gtgttgtcactgtagatagtGggggggtgtgccatgatggg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:55081756_55081756TG>T	uc001cxn.3	-	2	484	c.352_352CA>A	c.(352-354)actfs	p.T118fs	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGT	0.592													-	55081757	G	-	55081757	7	5	20	1	0	1	0	1	0	0	0	0	5458	1335	47	0	1430	0	FAM151A	1	55081757	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	1538380	55081757	194168864	65	17736											
INADL	10207	broad.mit.edu	37	chr1	62516732	62516732	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtgaaagcttcaaactggTgagaatcttgagtatttttc	9	5	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:62516732T>C	uc001dab.2	+	31	4239	c.4125_splice	c.e31+2	p.L1375_splice	INADL_uc009waf.1_Splice_Site_p.L1375_splice|INADL_uc001daa.2_Splice_Site_p.L1375_splice|INADL_uc001dad.3_Splice_Site_p.L1072_splice|INADL_uc001dac.2_Splice_Site|INADL_uc010oot.1_Splice_Site_p.L159_splice|INADL_uc009wag.2_Splice_Site_p.L159_splice|INADL_uc010oou.1_Splice_Site_p.L48_splice	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like						intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						TTCAAACTGGTGAGAATCTTG	0.408													C	62516732	T	C	62516732	5	2	20	1	0	0	0	0	0	0	1	0	7731	1710	59	3	4245	3	INADL	1	62516732	Splice_Site	SNP	T	TCGA-BR-4362-01A-01D-1158-08	7434975	62516732	186733889	66	17737											
KANK4	163782	broad.mit.edu	37	chr1	62740559	62740559	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccactgtcaggaaggctgaAgtttcggggcagagtgctaa	14	9	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:62740559A>C	uc001dah.3	-	3	594	c.217T>G	c.(217-219)TTC>GTC	p.F73V	KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	73										ovary(3)|skin(2)|lung(1)	6						GGAAGGCTGAAGTTTCGGGGC	0.562													C	62740559	A	C	62740559	3	2	20	1	0	0	0	0	1	0	0	0	7979	72	3	5	2802	5	KANK4	1	62740559	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	223827	62740559	186510062	67	17738											
LEPROT	54741	broad.mit.edu	37	chr1	65895571	65895571	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcccttattcgtcctgaTtttccacgccatctccccca	5	18	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:65895571T>C	uc001dcf.2	+	3	208	c.119T>C	c.(118-120)ATT>ACT	p.I40T	LEPR_uc001dcg.2_Intron|LEPR_uc001dch.2_Intron|LEPR_uc001dci.2_Intron|LEPR_uc009waq.2_Intron|LEPROT_uc009wap.2_Missense_Mutation_p.I49T	NM_017526	NP_059996	O15243	OBRG_HUMAN	leptin receptor gene-related protein	40	Helical; (Potential).					endosome membrane|Golgi membrane|integral to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTCGTCCTGATTTTCCACGCC	0.433													C	65895571	T	C	65895571	3	2	20	1	0	0	0	0	1	0	0	0	8732	1493	52	3	129	3	LEPROT	1	65895571	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3155012	65895571	183355050	68	17739											
SGIP1	84251	broad.mit.edu	37	chr1	67147618	67147618	+	Frame_Shift_Del	DEL	T	T	-													catcaatgacttggacagcaTttttgggccagtattgtccc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:67147617_67147617AT>A	uc001dcr.3	+	14	1097	c.880_880AT>A	c.(880-882)attfs	p.I294fs	SGIP1_uc010opd.2_Intron|SGIP1_uc001dcs.3_Intron|SGIP1_uc001dct.3_Intron|SGIP1_uc009wat.3_Frame_Shift_Del_p.I61fs	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	294	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CTTGGACAGCATTTTTGGGCC	0.408													-	67147618	T	-	67147618	7	5	20	1	0	1	0	1	0	0	0	0	14206	1493	52	0	939	0	SGIP1	1	67147618	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	1252047	67147618	182103003	69	17740											
IL23R	149233	broad.mit.edu	37	chr1	67666492	67666492	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccactgattcattacaaggTggcaagaagtacttggtttg	10	7	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:67666492T>C	uc001ddo.2	+	5	649	c.564T>C	c.(562-564)GGT>GGC	p.G188G	IL23R_uc009waz.2_5'UTR|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Intron|IL23R_uc010opk.1_Silent_p.G145G|IL23R_uc010opl.1_Intron|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Intron|IL23R_uc010opn.1_Silent_p.G33G|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Silent_p.G47G|IL23R_uc010opp.1_RNA|IL23R_uc010opq.1_Silent_p.G47G|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_5'UTR|IL23R_uc010opt.1_5'UTR|IL23R_uc010opu.1_5'UTR|IL23R_uc010opv.1_Silent_p.G47G|IL23R_uc010opw.1_Intron|IL23R_uc010opx.1_Intron|IL23R_uc010opy.1_5'UTR|IL23R_uc010opz.1_Intron|IL23R_uc010oqa.1_5'UTR|IL23R_uc010oqb.1_Silent_p.G47G|IL23R_uc010oqc.1_Intron|IL23R_uc010oqd.1_Intron|IL23R_uc010oqe.1_5'UTR|IL23R_uc010oqf.1_5'UTR|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_Intron	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	188	Extracellular (Potential).|Fibronectin type-III 1.				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity				0						CATTACAAGGTGGCAAGAAGT	0.373													C	67666492	T	C	67666492	2	2	20	1	0	0	0	0	0	0	0	1	7676	1683	59	3		3	IL23R	1	67666492	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	518874	67666492	181584129	70	17741											
GNG12	55970	broad.mit.edu	37	chr1	68171151	68171151	+	Frame_Shift_Del	DEL	T	T	-													ccactataagatgatgcaagTttttttatccttgaaagggt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:68171150_68171150GT>G	uc001dea.2	-	3	408	c.203_203AC>C	c.(202-204)actfs	p.T68fs		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 12 (GNG12), mRNA.	68					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						GATGATGCAAGTTTTTTTATC	0.433													-	68171151	T	-	68171151	7	5	20	1	0	1	0	1	0	0	0	0	6525	1725	60	0	20	0	GNG12	1	68171151	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	504659	68171151	181079470	71	17742											
NEGR1	257194	broad.mit.edu	37	chr1	72748049	72748049	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatcatgttgtccacggcCgcccaggggaagtccacact	10	15	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:72748049C>T	uc001dfw.2	-	1	229	c.129G>A	c.(127-129)GCG>GCA	p.A43A	NEGR1_uc010oqs.1_Silent_p.A43A	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1 precursor	43	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				ovary(1)	1		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TGTCCACGGCCGCCCAGGGGA	0.592													T	72748049	C	T	72748049	2	4	20	1	0	0	0	0	0	0	0	1	10317	639	23	1		1	NEGR1	1	72748049	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	4576898	72748049	176502572	72	17743											
LHX8	431707	broad.mit.edu	37	chr1	75602834	75602834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtgctcctcctcggcccCgctgtccccgtcgtcctcgc	9	22	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:75602834C>T	uc001dgo.2	+	4	819	c.155C>T	c.(154-156)CCG>CTG	p.P52L	LHX8_uc001dgq.2_5'UTR	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	LIM homeobox 8	52						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						TCCTCGGCCCCGCTGTCCCCG	0.697													T	75602834	C	T	75602834	3	4	20	1	0	0	0	0	1	0	0	0	8776	652	23	1	165	1	LHX8	1	75602834	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2854785	75602834	173647787	73	17744											
ACADM	34	broad.mit.edu	37	chr1	76194107	76194107	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgagaagtatttctcgtTttcattggagatcacagcat	8	8	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:76194107T>C	uc001dgw.3	+	2	482	c.52T>C	c.(52-54)TTT>CTT	p.F18L	ACADM_uc010orc.1_Missense_Mutation_p.F18L|ACADM_uc010ord.1_5'UTR|ACADM_uc009wbp.2_Missense_Mutation_p.F22L|ACADM_uc009wbr.2_Missense_Mutation_p.F18L|ACADM_uc010ore.1_Intron|ACADM_uc010orf.1_Intron|ACADM_uc001dgx.3_5'UTR	NM_000016	NP_000007	P11310	ACADM_HUMAN	medium-chain acyl-CoA dehydrogenase isoform a	18					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(2)|ovary(1)|skin(1)	4						TATTTCTCGTTTTCATTGGAG	0.313													C	76194107	T	C	76194107	3	2	20	1	0	0	0	0	1	0	0	0	113	1841	64	3	70	3	ACADM	1	76194107	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	591273	76194107	173056514	74	17745											
ZZZ3	26009	broad.mit.edu	37	chr1	78097900	78097900	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggctgcccttcgtggtgaGgttctcagagtataacgatg	15	8	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:78097900G>T	uc001dhq.2	-	5	1616	c.1140C>A	c.(1138-1140)ACC>ACA	p.T380T	ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Silent_p.T380T|ZZZ3_uc001dhp.2_Silent_p.T380T	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5						TTCGTGGTGAGGTTCTCAGAG	0.443													T	78097900	G	T	78097900	2	4	20	1	0	0	0	0	0	0	0	1	18253	987	35	5		5	ZZZ3	1	78097900	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1903793	78097900	171152721	75	17746											
IFI44	10561	broad.mit.edu	37	chr1	79121150	79121150	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggcggcctgtgcagggAtgacatattctatatcttga	12	7	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:79121150A>C	uc001dip.3	+	5	918	c.794A>C	c.(793-795)GAT>GCT	p.D265A	IFI44_uc010orr.1_Missense_Mutation_p.D265A|IFI44_uc010ors.1_5'UTR	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN	interferon-induced, hepatitis C-associated	265					response to virus	cytoplasm				ovary(1)|central_nervous_system(1)	2						CTGTGCAGGGATGACATATTC	0.383													C	79121150	A	C	79121150	3	2	20	1	0	0	0	0	1	0	0	0	7517	333	12	5	808	5	IFI44	1	79121150	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1023250	79121150	170129471	76	17747											
SPATA1	64173	broad.mit.edu	37	chr1	85014616	85014616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggagatcaagatgagacCaaagaatctggcaaacatca	10	8	3	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:85014616C>T	uc001djz.1	+	11	1359	c.1160C>T	c.(1159-1161)CCA>CTA	p.P387L	SPATA1_uc001djy.1_RNA	NM_001081472	NP_001074941			spermatogenesis associated 1											central_nervous_system(1)	1				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		AAGATGAGACCAAAGAATCTG	0.393													T	85014616	C	T	85014616	3	4	20	1	0	0	0	0	1	0	0	0	14997	594	21	4	1198	4	SPATA1	1	85014616	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	5893466	85014616	164236005	77	17748											
CTBS	1486	broad.mit.edu	37	chr1	85036346	85036346	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaaatgttgccacagttgTaatctgtgaccaatcataag	7	9	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:85036346T>C	uc001dka.2	-	2	300	c.235A>G	c.(235-237)ACA>GCA	p.T79A	CTBS_uc001dkc.2_5'UTR|CTBS_uc001dkd.2_5'UTR|CTBS_uc001dkb.2_5'UTR	NM_004388	NP_004379	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl- precursor	79						lysosome	cation binding				0				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GCCACAGTTGTAATCTGTGAC	0.373													C	85036346	T	C	85036346	3	2	20	1	0	0	0	0	1	0	0	0	3999	1638	57	3	946	3	CTBS	1	85036346	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	21730	85036346	164214275	78	17749											
MCOLN3	55283	broad.mit.edu	37	chr1	85506730	85506730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaactgatcatacacgtcaCtttgtgtgtacactgcatat	6	9	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:85506730C>T	uc001dkp.2	-	3	452	c.359G>A	c.(358-360)AGT>AAT	p.S120N	MCOLN3_uc001dkq.2_Intron|MCOLN3_uc001dkr.2_Missense_Mutation_p.S120N|MCOLN3_uc001dks.3_Translation_Start_Site	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	mucolipin 3	120						integral to membrane	ion channel activity			skin(1)	1				all cancers(265;0.00957)|Epithelial(280;0.0254)		ATACACGTCACTTTGTGTGTA	0.383													T	85506730	C	T	85506730	3	4	20	1	0	0	0	0	1	0	0	0	9397	565	20	4	1346	4	MCOLN3	1	85506730	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	470384	85506730	163743891	79	17750											
SYDE2	84144	broad.mit.edu	37	chr1	85666191	85666191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactgcgtatcacagaggaCcccgctggatccctgaaagg	11	14	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:85666191C>T	uc009wcm.2	-	1	538	c.489G>A	c.(487-489)GGG>GGA	p.G163G	SYDE2_uc001dku.3_Silent_p.G163G	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2	163					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|central_nervous_system(1)	2				all cancers(265;0.0126)|Epithelial(280;0.0336)		TCACAGAGGACCCCGCTGGAT	0.667													T	85666191	C	T	85666191	2	4	20	1	0	0	0	0	0	0	0	1	15433	494	18	4		4	SYDE2	1	85666191	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	159461	85666191	163584430	80	17751											
CLCA1	1179	broad.mit.edu	37	chr1	86965639	86965639	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacgtctgctccttgtcctAatattcatatcaacagcacc	4	13	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:86965639A>G	uc001dlt.2	+	14	2785	c.2656A>G	c.(2656-2658)AAT>GAT	p.N886D		NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	886					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TCCTTGTCCTAATATTCATAT	0.413													G	86965639	A	G	86965639	3	3	20	1	0	0	0	0	1	0	0	0	3457	362	13	3	2710	3	CLCA1	1	86965639	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1299448	86965639	162284982	81	17752											
CLCA4	22802	broad.mit.edu	37	chr1	87025666	87025666	+	Frame_Shift_Del	DEL	T	T	-													ttgaagccacagaaaaaagaTtttttttcaaaaatgtatct							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:87025665_87025665AT>A	uc009wcs.3	+	1	254	c.210_210AT>A	c.(208-210)agafs	p.R70fs	CLCA4_uc009wct.3_5'UTR|CLCA4_uc009wcu.3_5'UTR	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	70						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CAGAAAAAAGATTTTTTTTCA	0.338													-	87025666	T	-	87025666	7	5	20	1	0	1	0	1	0	0	0	0	3459	1493	52	0	217	0	CLCA4	1	87025666	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	60027	87025666	162224955	82	17753											
CLCA4	22802	broad.mit.edu	37	chr1	87031502	87031502	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggttgttgaattttgtaaCgaaaaaacccataatcaaga	7	5	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:87031502C>T	uc009wcs.2	+	6	797	c.753C>T	c.(751-753)AAC>AAT	p.N251N	CLCA4_uc009wct.2_Silent_p.N14N|CLCA4_uc009wcu.2_Silent_p.N71N	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	251						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.N251N(1)		ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AATTTTGTAACGAAAAAACCC	0.269													T	87031502	C	T	87031502	2	4	20	1	0	0	0	0	0	0	0	1	3459	535	19	1		1	CLCA4	1	87031502	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	5836	87031502	162219119	83	17754											
GBP3	2635	broad.mit.edu	37	chr1	89479066	89479066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgggaagaacttccggaTacagagtcggggcagattaa	13	7	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:89479066T>C	uc001dmt.2	-	6	875	c.670A>G	c.(670-672)ATC>GTC	p.I224V	GBP3_uc010oss.1_Missense_Mutation_p.I145V|GBP3_uc001dmu.2_Missense_Mutation_p.I90V|GBP3_uc001dmv.2_RNA	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	224						integral to membrane	GTP binding|GTPase activity			ovary(1)|pancreas(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		AACTTCCGGATACAGAGTCGG	0.358													C	89479066	T	C	89479066	3	2	20	1	0	0	0	0	1	0	0	0	6275	1406	49	3	1141	3	GBP3	1	89479066	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2447564	89479066	159771555	84	17755											
GBP3	2635	broad.mit.edu	37	chr1	89480280	89480280	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttcccatgctattgtacacGagagtgctgctcaggaggac	12	10	1	1	rs148546933	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:89480280G>A	uc001dmt.2	-	4	583	c.378C>T	c.(376-378)CTC>CTT	p.L126L	GBP3_uc010oss.1_Silent_p.L47L|GBP3_uc001dmu.2_5'UTR|GBP3_uc001dmv.2_RNA	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	126	Helical; (Potential).					integral to membrane	GTP binding|GTPase activity			ovary(1)|pancreas(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TATTGTACACGAGAGTGCTGC	0.522													A	89480280	G	A	89480280	2	1	20	1	0	0	0	0	0	0	0	1	6275	1045	37	1		1	GBP3	1	89480280	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1214	89480280	159770341	85	17756											
LRRC8B	23507	broad.mit.edu	37	chr1	90048567	90048567	+	Frame_Shift_Del	DEL	T	T	-													agctccattggtttgcaaagTttttcccctatctggtgctc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:90048566_90048566GT>G	uc001dni.3	+	6	864	c.357_357GT>G	c.(355-357)aagfs	p.K119fs	LRRC8B_uc001dnh.3_Frame_Shift_Del_p.K119fs|LRRC8B_uc001dnj.3_Frame_Shift_Del_p.K119fs	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	119						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GGTTTGCAAAGTTTTTCCCCT	0.512													-	90048567	T	-	90048567	7	5	20	1	0	1	0	1	0	0	0	0	9022	1725	60	0	360	0	LRRC8B	1	90048567	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	568287	90048567	159202054	86	17757											
LRRC8D	55144	broad.mit.edu	37	chr1	90400499	90400499	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcataatgacggcactaaActcttggtactgaacagcct	7	10	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:90400499A>G	uc001dnm.2	+	3	2297	c.1872A>G	c.(1870-1872)AAA>AAG	p.K624K	LRRC8D_uc001dnn.2_Silent_p.K624K	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	624	LRR 5.					integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		ACGGCACTAAACTCTTGGTAC	0.428													G	90400499	A	G	90400499	2	3	20	1	0	0	0	0	0	0	0	1	9024	40	2	3		3	LRRC8D	1	90400499	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	351932	90400499	158850122	87	17758											
HFM1	164045	broad.mit.edu	37	chr1	91781980	91781981	+	Frame_Shift_Ins	INS	-	-	T													cttgcatctgtctcttctatINSttttttaaaggaagtcaaac							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:91781979_91781980A>AT	uc001doa.4	-	25	2965_2966	c.2866_2867T>AT	c.(2866-2868)atafs	p.I956fs	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Frame_Shift_Ins_p.I635fs|HFM1_uc001dob.4_Frame_Shift_Ins_p.I144fs|HFM1_uc010osv.1_Frame_Shift_Ins_p.I640fs	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	956	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TGTCTCTTCTATTTTTTTAAAG	0.292													T	91781981	-	T	91781980	7	5	20	1	0	1	1	0	0	0	0	0	7083	1493	52	0	1497	0	HFM1	1	91781980	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	1381481	91781980	157468641	88	17759											
EVI5	7813	broad.mit.edu	37	chr1	93169000	93169000	+	Frame_Shift_Del	DEL	A	A	-													ccaaggctatctttttccttAaaaaagttgtgttcagggta							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:93168999_93168999TA>T	uc010otf.2	-	3	659	c.649_649TA>A	c.(649-651)aagfs	p.K217fs	EVI5_uc001dox.3_Frame_Shift_Del_p.K217fs	NM_005665	NP_005656	O60447	EVI5_HUMAN	Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA.	217	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TCTTTTTCCTTAAAAAAGTTG	0.333													-	93169000	A	-	93169000	7	5	20	1	0	1	0	1	0	0	0	0	5289	359	13	0	1844	0	EVI5	1	93169000	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	1387020	93169000	156081621	89	17760											
FNBP1L	54874	broad.mit.edu	37	chr1	93995246	93995246	+	Frame_Shift_Del	DEL	A	A	-													aagagaatgtagagaggcagAaaaggcacaacagagttatg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:93995246delA	uc001dpw.2	+	6	443	c.443delA	c.(442-444)GAAfs	p.E148fs	FNBP1L_uc001dpv.2_Frame_Shift_Del_p.E148fs|FNBP1L_uc010otk.1_5'UTR	NM_001024948	NP_001020119	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like isoform 1	148	Induction of membrane tubulation (By similarity).|Potential.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding				0		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		AGAGAGGCAGAAAAGGCACAA	0.303													-	93995246	A	-	93995246	7	5	20	1	0	1	0	1	0	0	0	0	5966	246	9	0	465	0	FNBP1L	1	93995246	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	826246	93995246	155255375	90	17761											
DPYD	1806	broad.mit.edu	37	chr1	98165040	98165040	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcagaataggcttcagAcattttttctgggggaggca	12	7	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:98165040A>G	uc001drv.2	-	6	684	c.547T>C	c.(547-549)TCT>CCT	p.S183P	DPYD_uc010oub.1_RNA	NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	183					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TAGGCTTCAGACATTTTTTCT	0.423													G	98165040	A	G	98165040	3	3	20	1	0	0	0	0	1	0	0	0	4745	275	10	3	2602	3	DPYD	1	98165040	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	4169794	98165040	151085581	91	17762											
AGL	178	broad.mit.edu	37	chr1	100357205	100357205	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcttctacctgaagcagaTcccacgttaccttatcccat	5	14	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:100357205T>C	uc001dsi.1	+	23	3393	c.2993T>C	c.(2992-2994)ATC>ACC	p.I998T	AGL_uc001dsj.1_Missense_Mutation_p.I998T|AGL_uc001dsk.1_Missense_Mutation_p.I998T|AGL_uc001dsl.1_Missense_Mutation_p.I998T|AGL_uc001dsm.1_Missense_Mutation_p.I982T|AGL_uc001dsn.1_Missense_Mutation_p.I981T	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	998	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CTGAAGCAGATCCCACGTTAC	0.368													C	100357205	T	C	100357205	3	2	20	1	0	0	0	0	1	0	0	0	384	1435	50	3	3148	3	AGL	1	100357205	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2192165	100357205	148893416	92	17763											
VCAM1	7412	broad.mit.edu	37	chr1	101186043	101186043	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttgcagctcaagcttttAaaatcgagaccaccccagaa	6	12	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:101186043A>G	uc001dti.2	+	2	196	c.76A>G	c.(76-78)AAA>GAA	p.K26E	VCAM1_uc001dtj.2_Missense_Mutation_p.K26E|VCAM1_uc010ouj.1_Missense_Mutation_p.K26E	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	26	Ig-like C2-type 1.|Extracellular (Potential).				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TCAAGCTTTTAAAATCGAGAC	0.403													G	101186043	A	G	101186043	3	3	20	1	0	0	0	0	1	0	0	0	17134	363	13	3	82	3	VCAM1	1	101186043	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	828838	101186043	148064578	93	17764											
AKNAD1	254268	broad.mit.edu	37	chr1	109369927	109369927	+	Splice_Site	DEL	A	A	-													ttctccacgttttgcttcctAaaaaaaggtgcataagatcc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:109369926_109369926TA>T	uc001dwa.3	-	11	2108	c.1839_splice	c.e11-1	p.W613_splice	AKNAD1_uc010ovb.2_Splice_Site_p.W320_splice|AKNAD1_uc001dwb.3_Splice_Site	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	613										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTTGCTTCCTAAAAAAAGGT	0.378													-	109369927	A	-	109369927	8	5	20	1	0	1	0	1	0	0	1	0	464	377	13	0		0	AKNAD1	1	109369927	Splice_Site	DEL	A	TCGA-BR-4362-01A-01D-1158-08	8183884	109369927	139880694	94	17765											
SARS	6301	broad.mit.edu	37	chr1	109778671	109778671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagagatgattaccaccGcagaggagttctaccagtcc	10	10	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:109778671G>A	uc001dwu.1	+	8	1117	c.1042G>A	c.(1042-1044)GCA>ACA	p.A348T	SARS_uc001dwt.1_Missense_Mutation_p.A348T|SARS_uc001dwv.1_Missense_Mutation_p.A348T|SARS_uc001dww.1_Missense_Mutation_p.A281T|SARS_uc001dwx.1_Missense_Mutation_p.A300T|SARS_uc009wfa.1_Missense_Mutation_p.A348T|SARS_uc001dwy.1_Missense_Mutation_p.A173T|SARS_uc001dwz.1_Missense_Mutation_p.A173T	NM_006513	NP_006504	P49591	SYSC_HUMAN	seryl-tRNA synthetase	348					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GATTACCACCGCAGAGGAGTT	0.493													A	109778671	G	A	109778671	3	1	20	1	0	0	0	0	1	0	0	0	13844	1087	38	1	1072	1	SARS	1	109778671	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	408744	109778671	139471950	95	17766											
SORT1	6272	broad.mit.edu	37	chr1	109910092	109910092	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtacatggaaggtagtcaaGactagaatgacctggagaga	14	5	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:109910092G>T	uc001dxm.1	-	3	427	c.378C>A	c.(376-378)GTC>GTA	p.V126V	SORT1_uc010ovi.1_5'UTR|SORT1_uc009wfb.2_5'UTR	NM_002959	NP_002950	Q99523	SORT_HUMAN	sortilin 1 preproprotein	126	Extracellular (Potential).				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			ovary(1)	1		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		AGGTAGTCAAGACTAGAATGA	0.383													T	109910092	G	T	109910092	2	4	20	1	0	0	0	0	0	0	0	1	14935	929	33	5		5	SORT1	1	109910092	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	131421	109910092	139340529	96	17767											
GSTM3	2947	broad.mit.edu	37	chr1	110280341	110280341	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattgtttcagttgtccaggTagctcttccaagtactgagg	10	8	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:110280341T>C	uc001dyo.2	-	7	715	c.405A>G	c.(403-405)CTA>CTG	p.L135L	GSTM3_uc001dyp.2_Silent_p.L132L|GSTM3_uc010ovv.1_Silent_p.L135L	NM_000849	NP_000840	P21266	GSTM3_HUMAN	glutathione S-transferase mu 3	135	GST C-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding				0		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GTTGTCCAGGTAGCTCTTCCA	0.433													C	110280341	T	C	110280341	2	2	20	1	0	0	0	0	0	0	0	1	6839	1625	57	3		3	GSTM3	1	110280341	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	370249	110280341	138970280	97	17768											
KCNC4	3749	broad.mit.edu	37	chr1	110765914	110765914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggctgagcggcctgtcatCcaaggcggcccgcgacgtgc	17	14	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:110765914C>T	uc001dzh.2	+	2	1064	c.1007C>T	c.(1006-1008)TCC>TTC	p.S336F	KCNC4_uc001dzf.2_Missense_Mutation_p.S336F|KCNC4_uc009wfr.2_Missense_Mutation_p.S336F|KCNC4_uc001dzg.2_Missense_Mutation_p.S336F|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	336					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCCTGTCATCCAAGGCGGCC	0.632													T	110765914	C	T	110765914	3	4	20	1	0	0	0	0	1	0	0	0	8017	855	30	4	1013	4	KCNC4	1	110765914	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	485573	110765914	138484707	98	17769											
KCNC4	3749	broad.mit.edu	37	chr1	110766270	110766270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcatgctggtaggggcaCtgtgtgcactggctggcgtg	18	9	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:110766270C>T	uc001dzh.2	+	2	1420	c.1363C>T	c.(1363-1365)CTG>TTG	p.L455L	KCNC4_uc001dzf.2_Silent_p.L455L|KCNC4_uc009wfr.2_Silent_p.L455L|KCNC4_uc001dzg.2_Silent_p.L455L|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	455	Helical; Name=Segment S6; (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGTAGGGGCACTGTGTGCACT	0.592													T	110766270	C	T	110766270	2	4	20	1	0	0	0	0	0	0	0	1	8017	564	20	4		4	KCNC4	1	110766270	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	356	110766270	138484351	99	17770											
KCNA2	3737	broad.mit.edu	37	chr1	111147188	111147188	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgaaaaagtactcatttcGgagggggtcaaagtacctca	10	8	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:111147188G>A	uc001dzu.2	-	2	713	c.217C>T	c.(217-219)CGA>TGA	p.R73*	KCNA2_uc009wfv.1_Nonsense_Mutation_p.R73*|KCNA2_uc009wfw.2_Nonsense_Mutation_p.R73*	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	73						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		TACTCATTTCGGAGGGGGTCA	0.522													A	111147188	G	A	111147188	4	1	20	1	0	0	0	0	0	1	0	0	8003	1124	39	1	1286	1	KCNA2	1	111147188	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	380918	111147188	138103433	100	17771											
CHIA	27159	broad.mit.edu	37	chr1	111858017	111858017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaccctggctctcgtgggaGccctcctcaggacaagcatc	11	15	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:111858017G>A	uc001eas.2	+	6	543	c.440G>A	c.(439-441)AGC>AAC	p.S147N	CHIA_uc001ear.2_Missense_Mutation_p.S39N|CHIA_uc001eaq.2_Missense_Mutation_p.S39N|CHIA_uc009wgc.2_Missense_Mutation_p.S39N|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_5'UTR|CHIA_uc001eau.2_Intron|CHIA_uc009wgd.2_Intron	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN	acidic chitinase isoform c	147					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			ovary(1)	1		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TCTCGTGGGAGCCCTCCTCAG	0.527													A	111858017	G	A	111858017	3	1	20	1	0	0	0	0	1	0	0	0	3342	971	34	2	458	2	CHIA	1	111858017	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	710829	111858017	137392604	101	17772											
WNT2B	7482	broad.mit.edu	37	chr1	113051996	113051996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggctcccgggcttcggccCgcctaggtcttgcctgcctt	12	17	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:113051996C>T	uc001ecb.2	+	1	627	c.112C>T	c.(112-114)CGC>TGC	p.R38C	WNT2B_uc001eca.2_Intron|WNT2B_uc009wgg.2_Intron	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family,	38					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			ovary(2)|breast(2)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCTTCGGCCCGCCTAGGTCT	0.736													T	113051996	C	T	113051996	3	4	20	1	0	0	0	0	1	0	0	0	17384	652	23	1	247	1	WNT2B	1	113051996	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1193979	113051996	136198625	102	17773											
LRIG2	9860	broad.mit.edu	37	chr1	113653186	113653186	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaaactgactgtaaatggTaaggaattatgctccttgat	9	7	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:113653186T>C	uc001edf.1	+	13	1996	c.1798_splice	c.e13+2	p.E600_splice	LRIG2_uc009wgn.1_Splice_Site_p.E497_splice	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like							cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CTGTAAATGGTAAGGAATTAT	0.299													C	113653186	T	C	113653186	5	2	20	1	0	0	0	0	0	0	1	0	8945	1652	57	3	1850	3	LRIG2	1	113653186	Splice_Site	SNP	T	TCGA-BR-4362-01A-01D-1158-08	601190	113653186	135597435	103	17774											
PTPN22	26191	broad.mit.edu	37	chr1	114380688	114380688	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaggagttgatttggtccgtGttattggcacctttgaatta	11	5	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:114380688G>C	uc001eds.2	-	13	1464	c.1334C>G	c.(1333-1335)ACA>AGA	p.T445R	PTPN22_uc009wgq.2_Missense_Mutation_p.T390R|PTPN22_uc010owo.1_Missense_Mutation_p.T201R|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.T445R|PTPN22_uc009wgs.2_Missense_Mutation_p.T318R|PTPN22_uc001edu.2_Missense_Mutation_p.T445R	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type	445					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGGTCCGTGTTATTGGCAC	0.378													C	114380688	G	C	114380688	3	2	20	1	0	0	0	0	1	0	0	0	12787	1377	48	5	1148	5	PTPN22	1	114380688	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	727502	114380688	134869933	104	17775											
TRIM33	51592	broad.mit.edu	37	chr1	114952816	114952816	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgctttacctgatgatccCggagaaagggcagagggacc	13	9	0	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:114952816C>A	uc001eew.2	-	12	2268	c.2184G>T	c.(2182-2184)CCG>CCT	p.P728P	TRIM33_uc010owr.1_Silent_p.P342P|TRIM33_uc010ows.1_Silent_p.P360P|TRIM33_uc001eex.2_Silent_p.P728P	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	728					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGATGATCCCGGAGAAAGGG	0.363			T	RET	papillary thyroid								A	114952816	C	A	114952816	2	1	20	1	0	0	0	0	0	0	0	1	16504	639	23	5		5	TRIM33	1	114952816	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	572128	114952816	134297805	105	17776											
ATP1A1	476	broad.mit.edu	37	chr1	116946596	116946596	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatcaggcgacgccctggCggtaattatgggcattctga	12	10	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:116946596C>T	uc001ege.2	+	22	3381	c.3042C>T	c.(3040-3042)GGC>GGT	p.G1014G	ATP1A1_uc010owv.1_Silent_p.G983G|ATP1A1_uc010oww.1_Silent_p.G1014G|ATP1A1_uc010owx.1_Silent_p.G983G|C1orf203_uc009whb.2_Intron|C1orf203_uc001egg.3_Intron|ATP1A1_uc001egh.2_Silent_p.G156G	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	1014	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GACGCCCTGGCGGTAATTATG	0.493													T	116946596	C	T	116946596	2	4	20	1	0	0	0	0	0	0	0	1	1128	782	27	1		1	ATP1A1	1	116946596	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1993780	116946596	132304025	106	17777											
PTGFRN	5738	broad.mit.edu	37	chr1	117484558	117484558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagcggctgcagaggggcGagatcctgttaaggcggact	18	8	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:117484558G>A	uc001egv.1	+	2	408	c.271G>A	c.(271-273)GAG>AAG	p.E91K		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	91	Extracellular (Potential).|Ig-like C2-type 1.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			liver(1)	1	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GCAGAGGGGCGAGATCCTGTT	0.592													A	117484558	G	A	117484558	3	1	20	1	0	0	0	0	1	0	0	0	12750	1059	37	1	277	1	PTGFRN	1	117484558	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	537962	117484558	131766063	107	17778											
GDAP2	54834	broad.mit.edu	37	chr1	118455209	118455209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaactctcagctgctgtgCgatagcggcttttatattta	11	8	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:118455209C>T	uc001ehf.2	-	4	712	c.413G>A	c.(412-414)CGC>CAC	p.R138H	GDAP2_uc001ehg.2_Missense_Mutation_p.R138H	NM_017686	NP_060156	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated	138	Macro.									ovary(2)	2		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		AGCTGCTGTGCGATAGCGGCT	0.428													T	118455209	C	T	118455209	3	4	20	1	0	0	0	0	1	0	0	0	6309	768	27	1	1169	1	GDAP2	1	118455209	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	970651	118455209	130795412	108	17779											
WARS2	10352	broad.mit.edu	37	chr1	119575812	119575812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgttggacacgccagcgcGgccagccgggtcataggtga	15	11	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:119575812G>A	uc001ehn.2	-	6	833	c.805C>T	c.(805-807)CGC>TGC	p.R269C	WARS2_uc010oxf.1_Missense_Mutation_p.R175C|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.R212C|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	269					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	p.R269C(1)			0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	ACGCCAGCGCGGCCAGCCGGG	0.632													A	119575812	G	A	119575812	3	1	20	1	0	0	0	0	1	0	0	0	17247	1116	39	1	281	1	WARS2	1	119575812	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1120603	119575812	129674809	109	17780											
PDE4DIP	9659	broad.mit.edu	37	chr1	144918931	144918931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttttcagcctcccaggcacGaagctgttggctcttattct	8	12	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:144918931G>A	uc001elw.3	-	10	1546	c.1255C>T	c.(1255-1257)CGT>TGT	p.R419C	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R485C|PDE4DIP_uc001emc.1_Missense_Mutation_p.R419C|PDE4DIP_uc001emd.1_Missense_Mutation_p.R419C|PDE4DIP_uc001emb.1_Missense_Mutation_p.R582C|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Missense_Mutation_p.R206C	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	419	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCCAGGCACGAAGCTGTTGG	0.408			T	PDGFRB	MPD								A	144918931	G	A	144918931	3	1	20	1	0	0	0	0	1	0	0	0	11643	1058	37	1	5935	1	PDE4DIP	1	144918931	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	25343119	144918931	104331690	110	17781											
BCL9	607	broad.mit.edu	37	chr1	147084979	147084979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagatcctgggactccaaaCgatgactctgacattaaagg	10	9	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:147084979C>T	uc001epq.2	+	5	1091	c.351C>T	c.(349-351)AAC>AAT	p.N117N	BCL9_uc010ozr.1_Intron	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	117					Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					GGACTCCAAACGATGACTCTG	0.507			T	IGH@|IGL@	B-ALL								T	147084979	C	T	147084979	2	4	20	1	0	0	0	0	0	0	0	1	1381	535	19	1		1	BCL9	1	147084979	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2166048	147084979	102165642	111	17782											
BCL9	607	broad.mit.edu	37	chr1	147086415	147086415	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctactgagatggccaataAgtaagttgatggctgtgtct	11	6	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:147086415A>G	uc001epq.2	+	6	1300	c.560A>G	c.(559-561)AAA>AGA	p.K187R	BCL9_uc010ozr.1_Missense_Mutation_p.K113R	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	187					Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					ATGGCCAATAAGTAAGTTGAT	0.468			T	IGH@|IGL@	B-ALL								G	147086415	A	G	147086415	3	3	20	1	0	0	0	0	1	0	0	0	1381	86	3	3	570	3	BCL9	1	147086415	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1436	147086415	102164206	112	17783											
GABPB2	126626	broad.mit.edu	37	chr1	151076042	151076042	+	Frame_Shift_Del	DEL	C	C	-													tttcttactgaaataggtgaCccccatgcctcaacagtaca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:151076041_151076041AC>A	uc001ewr.2	+	5	957	c.626_626AC>A	c.(625-627)gacfs	p.D209fs	GABPB2_uc010pcp.1_Frame_Shift_Del_p.D225fs|GABPB2_uc001ewt.2_Intron	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA.	209					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GAAATAGGTGACCCCCATGCC	0.428													-	151076042	C	-	151076042	7	5	20	1	0	1	0	1	0	0	0	0	6159	506	18	0	645	0	GABPB2	1	151076042	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	3989627	151076042	98174579	113	17784											
LYSMD1	388695	broad.mit.edu	37	chr1	151134433	151134433	+	Frame_Shift_Del	DEL	T	T	-													tcactgttacttgggtgtacTttttcctctccatctttctc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:151134432_151134432CT>C	uc001ewy.3	-	1	961	c.325_325AG>G	c.(325-327)gtafs	p.V109fs	SCNM1_uc021oyk.1_Intron|LYSMD1_uc010pcr.2_Frame_Shift_Del_p.V61fs	NM_212551	NP_997716	Q96S90	LYSM1_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 1 (LYSMD1), transcript variant 1, mRNA.	109					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTGGGTGTACTTTTTCCTCT	0.498													-	151134433	T	-	151134433	7	5	20	1	0	1	0	1	0	0	0	0	9124	1606	56	0	367	0	LYSMD1	1	151134433	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	58391	151134433	98116188	114	17785											
ZNF687	57592	broad.mit.edu	37	chr1	151263312	151263312	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggccatggccctctgcgctAccggagcagcagctccacag	12	16	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:151263312A>G	uc001exq.2	+	9	3439	c.3341A>G	c.(3340-3342)TAC>TGC	p.Y1114C	ZNF687_uc009wmo.2_Missense_Mutation_p.Y1114C|ZNF687_uc009wmp.2_3'UTR	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	1114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCTCTGCGCTACCGGAGCAGC	0.632													G	151263312	A	G	151263312	3	3	20	1	0	0	0	0	1	0	0	0	18089	391	14	3	3371	3	ZNF687	1	151263312	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	128879	151263312	97987309	115	17786											
HRNR	388697	broad.mit.edu	37	chr1	152192330	152192330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccgtagccagaggactgtCctgagcgagactcttggtga	14	10	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:152192330C>T	uc001ezt.1	-	3	1851	c.1775G>A	c.(1774-1776)GGA>GAA	p.G592E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	592					keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGGACTGTCCTGAGCGAGA	0.567													T	152192330	C	T	152192330	3	4	20	1	0	0	0	0	1	0	0	0	7359	855	30	4	6781	4	HRNR	1	152192330	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	929018	152192330	97058291	116	17787											
FLG	2312	broad.mit.edu	37	chr1	152283080	152283080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttcccctgactggccacGtgcggactctttgtggctct	11	14	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:152283080G>A	uc001ezu.1	-	3	4318	c.4282C>T	c.(4282-4284)CGT>TGT	p.R1428C	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1428	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGGCCACGTGCGGACTCT	0.562									Ichthyosis				A	152283080	G	A	152283080	3	1	20	1	0	0	0	0	1	0	0	0	5922	1145	40	1	7907	1	FLG	1	152283080	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	90750	152283080	96967541	117	17788											
FLG2	388698	broad.mit.edu	37	chr1	152328128	152328128	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagatgtctgtcctgaacTtgacccatgttgaccatagc	8	12	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:152328128T>C	uc001ezw.3	-	3	2207	c.2134A>G	c.(2134-2136)AGT>GGT	p.S712G	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	712	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGAACTTGACCCATGT	0.478													C	152328128	T	C	152328128	3	2	20	1	0	0	0	0	1	0	0	0	5923	1609	56	3	5045	3	FLG2	1	152328128	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	45048	152328128	96922493	118	17789											
FLG2	388698	broad.mit.edu	37	chr1	152329376	152329376	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctatgtgactgacaagaacTtgaagcattttgtggccttc	9	8	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:152329376T>G	uc001ezw.3	-	3	959	c.886A>C	c.(886-888)AGT>CGT	p.S296R	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	296	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACAAGAACTTGAAGCATTT	0.473													G	152329376	T	G	152329376	3	3	20	1	0	0	0	0	1	0	0	0	5923	1609	56	5	6293	5	FLG2	1	152329376	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1248	152329376	96921245	119	17790											
LCE1E	353135	broad.mit.edu	37	chr1	152759779	152759779	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtacctactgccgagatgTcctgccagcagagccagcag	11	13	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:152759779T>G	uc001fan.2	+	2	57	c.4T>G	c.(4-6)TCC>GCC	p.S2A		NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	2					keratinization						0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCGAGATGTCCTGCCAGCA	0.488													G	152759779	T	G	152759779	3	3	20	1	0	0	0	0	1	0	0	0	8663	1667	58	5	6	5	LCE1E	1	152759779	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	430403	152759779	96490842	120	17791											
C1orf77	26097	broad.mit.edu	37	chr1	153617558	153617558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcggggtatgataggtcGgggaagagggggctttggag	22	3	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:153617558G>A	uc001fcm.1	+	6	872	c.560G>A	c.(559-561)CGG>CAG	p.R187Q	C1orf77_uc001fcn.1_Missense_Mutation_p.R188Q|C1orf77_uc001fco.1_Missense_Mutation_p.R162Q|C1orf77_uc001fcp.2_RNA	NM_015607	NP_056422	Q9Y3Y2	CHTOP_HUMAN	small protein rich in arginine and glycine	187	Arg/Gly-rich.|Interaction with PRMT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGATAGGTCGGGGAAGAGGG	0.527													A	153617558	G	A	153617558	3	1	20	1	0	0	0	0	1	0	0	0	2059	1116	39	1	578	1	C1orf77	1	153617558	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	857779	153617558	95633063	121	17792											
DENND4B	9909	broad.mit.edu	37	chr1	153914361	153914361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacgcttccaagggtaggcGgtgggggcctgagacggagt	18	9	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:153914361G>A	uc001fdd.1	-	6	1440	c.1039C>T	c.(1039-1041)CGC>TGC	p.R347C		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	347	DENN.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGGGTAGGCGGTGGGGGCCT	0.632													A	153914361	G	A	153914361	3	1	20	1	0	0	0	0	1	0	0	0	4434	1116	39	1	3543	1	DENND4B	1	153914361	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	296803	153914361	95336260	122	17793											
CRTC2	200186	broad.mit.edu	37	chr1	153920984	153920984	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggaacagtgggtcaagTtctggtggttgaaggtgtgg	20	4	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:153920984T>G	uc010ped.1	-	13	1881	c.1811A>C	c.(1810-1812)AAC>ACC	p.N604T	DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Missense_Mutation_p.N140T	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	604					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)	2	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTGGGTCAAGTTCTGGTGGTT	0.577													G	153920984	T	G	153920984	3	3	20	1	0	0	0	0	1	0	0	0	3900	1725	60	5	278	5	CRTC2	1	153920984	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	6623	153920984	95329637	123	17794											
UBE2Q1	55585	broad.mit.edu	37	chr1	154524458	154524459	+	Splice_Site	INS	-	-	GA													tcaaagggaaagttatcctgINSagagagagagagacgacaat							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:154524457_154524458T>TGA	uc001fff.1	-	9	1058	c.967_splice	c.e9-1	p.D323_splice		NM_017582	NP_060052	Q7Z7E8	UB2Q1_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2Q family member 1 (UBE2Q1), mRNA.	323							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAAGTTATCCTGAGAGAGAGAG	0.574													GA	154524459	-	GA	154524458	8	5	20	1	0	1	1	0	0	0	1	0	16866	1305	45	0		0	UBE2Q1	1	154524458	Splice_Site	INS	-	TCGA-BR-4362-01A-01D-1158-08	603474	154524458	94726163	124	17795											
ADAR	103	broad.mit.edu	37	chr1	154562368	154562368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccggtggctcagcatggCtatctggtcatggaaggtgc	15	10	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:154562368C>T	uc001ffh.2	-	8	2733	c.2533G>A	c.(2533-2535)GCC>ACC	p.A845T	ADAR_uc001ffj.2_Missense_Mutation_p.A800T|ADAR_uc001ffi.2_Missense_Mutation_p.A819T|ADAR_uc001ffk.2_Missense_Mutation_p.A550T	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	845					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CTCAGCATGGCTATCTGGTCA	0.547													T	154562368	C	T	154562368	3	4	20	1	0	0	0	0	1	0	0	0	281	797	28	2	1179	2	ADAR	1	154562368	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	37910	154562368	94688253	125	17796											
ZBTB7B	51043	broad.mit.edu	37	chr1	154987252	154987252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatgtgacctcaccatccGgacgcagggccttgaatacc	9	15	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:154987252G>A	uc001fgk.3	+	3	274	c.116G>A	c.(115-117)CGG>CAG	p.R39Q	ZBTB7B_uc009wpa.2_Missense_Mutation_p.R39Q|ZBTB7B_uc001fgj.3_Missense_Mutation_p.R73Q|ZBTB7B_uc010peq.1_Missense_Mutation_p.R73Q|ZBTB7B_uc001fgl.3_Missense_Mutation_p.R39Q	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	39	BTB.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	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)			CTCACCATCCGGACGCAGGGC	0.592													A	154987252	G	A	154987252	3	1	20	1	0	0	0	0	1	0	0	0	17551	1116	39	1	118	1	ZBTB7B	1	154987252	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	424884	154987252	94263369	126	17797											
DCST2	127579	broad.mit.edu	37	chr1	154998843	154998843	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccggctgacatagctgccaaAcagggtgatgaagaagcata	12	9	0	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:154998843A>T	uc001fgm.2	-	10	1626	c.1546T>A	c.(1546-1548)TTT>ATT	p.F516I	DCST2_uc009wpb.2_RNA	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	516	Helical; (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)			TAGCTGCCAAACAGGGTGATG	0.647													T	154998843	A	T	154998843	3	4	20	1	0	0	0	0	1	0	0	0	4303	43	2	5	799	5	DCST2	1	154998843	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	11591	154998843	94251778	127	17798											
TRIM46	80128	broad.mit.edu	37	chr1	155152138	155152138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgtcattgacacccagcGcacctttgcctatgatcaga	7	16	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:155152138G>A	uc001fhs.1	+	8	1399	c.1316G>A	c.(1315-1317)CGC>CAC	p.R439H	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.R439H|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.R313H|TRIM46_uc001fhu.1_Missense_Mutation_p.R416H|TRIM46_uc009wpg.1_Missense_Mutation_p.R426H|TRIM46_uc001fhv.3_Missense_Mutation_p.R426H|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	439	Fibronectin type-III.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GACACCCAGCGCACCTTTGCC	0.637													A	155152138	G	A	155152138	3	1	20	1	0	0	0	0	1	0	0	0	16518	1087	38	1	1346	1	TRIM46	1	155152138	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	153295	155152138	94098483	128	17799											
RUSC1	23623	broad.mit.edu	37	chr1	155300265	155300265	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccggcgtggggaagtgcTgcgtgtcatcaccacagtgg	15	11	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:155300265T>C	uc001fkj.2	+	10	2841	c.2612T>C	c.(2611-2613)CTG>CCG	p.L871P	RAG1AP1_uc010pey.1_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.L765P|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_Missense_Mutation_p.L402P|RUSC1_uc001fkl.2_Missense_Mutation_p.L461P|RUSC1_uc001fkp.2_Missense_Mutation_p.L402P|RUSC1_uc001fkq.2_Missense_Mutation_p.L296P|RUSC1_uc010pgb.1_Missense_Mutation_p.L369P|RUSC1_uc009wqp.1_Missense_Mutation_p.L396P|RUSC1_uc001fkn.2_Missense_Mutation_p.L180P|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Missense_Mutation_p.L402P|RUSC1_uc001fks.2_Missense_Mutation_p.L138P	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	871	SH3.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GGGGAAGTGCTGCGTGTCATC	0.612													C	155300265	T	C	155300265	3	2	20	1	0	0	0	0	1	0	0	0	13750	1580	55	3	2777	3	RUSC1	1	155300265	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	148127	155300265	93950356	129	17800											
DAP3	7818	broad.mit.edu	37	chr1	155707980	155707980	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagggaaaaaagagctgctgTtcctaagtaacgcgaacccc	10	10	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:155707980T>C	uc001flq.2	+	13	1313	c.1144T>C	c.(1144-1146)TTC>CTC	p.F382L	DAP3_uc001flr.2_Missense_Mutation_p.F382L|DAP3_uc001fls.2_Missense_Mutation_p.F382L|DAP3_uc010pgl.1_Missense_Mutation_p.F341L|DAP3_uc001flt.2_Missense_Mutation_p.F348L|DAP3_uc001flu.2_Missense_Mutation_p.F355L|DAP3_uc010pgm.1_Missense_Mutation_p.F348L	NM_033657	NP_387506	P51398	RT29_HUMAN	death-associated protein 3	382					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			ovary(1)	1	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGAGCTGCTGTTCCTAAGTAA	0.502													C	155707980	T	C	155707980	3	2	20	1	0	0	0	0	1	0	0	0	4234	1725	60	3	1190	3	DAP3	1	155707980	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	407715	155707980	93542641	130	17801											
KIAA0907	22889	broad.mit.edu	37	chr1	155896943	155896943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacatgaagatataatggacGatccctataaagagaaacaa	7	6	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:155896943G>A	uc001fmi.1	-	5	493	c.469C>T	c.(469-471)CGT>TGT	p.R157C	KIAA0907_uc001fmj.1_Missense_Mutation_p.R157C|KIAA0907_uc009wrk.1_Intron|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.R157C|KIAA0907_uc001fmm.2_Missense_Mutation_p.R157C|SCARNA4_uc001fmn.1_5'Flank|KIAA0907_uc001fmo.2_Missense_Mutation_p.R157C	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	157											0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TATAATGGACGATCCCTATAA	0.378													A	155896943	G	A	155896943	3	1	20	1	0	0	0	0	1	0	0	0	8199	1058	37	1	1415	1	KIAA0907	1	155896943	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	188963	155896943	93353678	131	17802											
MEX3A	92312	broad.mit.edu	37	chr1	156046519	156046519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcgctctcaaagcagaccAtgcaatcccgcccgccgccg	8	19	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:156046519A>G	uc001fnd.3	-	2	1409	c.1409T>C	c.(1408-1410)ATG>ACG	p.M470T		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	470	RING-type.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					AAAGCAGACCATGCAATCCCG	0.677													G	156046519	A	G	156046519	3	3	20	1	0	0	0	0	1	0	0	0	9509	217	8	3	157	3	MEX3A	1	156046519	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	149576	156046519	93204102	132	17803											
SMG5	23381	broad.mit.edu	37	chr1	156220714	156220714	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgatgatggtcaccatgcCactcggatcctcctcacctg	9	14	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:156220714C>A	uc001foc.3	-	21	3051	c.2902G>T	c.(2902-2904)GGC>TGC	p.G968C	PAQR6_uc010phf.1_5'Flank|PAQR6_uc001fny.1_5'Flank|PAQR6_uc001fnv.1_5'Flank|PAQR6_uc010phg.1_5'Flank|PAQR6_uc001fnx.1_5'Flank|PAQR6_uc001fnw.1_5'Flank|PAQR6_uc001fnz.1_5'Flank|PAQR6_uc010phh.1_5'Flank|PAQR6_uc001foa.1_5'Flank|PAQR6_uc001fob.1_5'Flank|PAQR6_uc001fnu.1_5'Flank|SMG5_uc009wrv.2_Intron	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	968	PINc.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					GTCACCATGCCACTCGGATCC	0.602													A	156220714	C	A	156220714	3	1	20	1	0	0	0	0	1	0	0	0	14796	594	21	5	156	5	SMG5	1	156220714	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	174195	156220714	93029907	133	17804											
APOA1BP	128240	broad.mit.edu	37	chr1	156562003	156562003	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctacagccatcgccaaggTcagtggcacaactctcgacc	9	15	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:156562003T>G	uc001fph.2	+	2	330	c.291_splice	c.e2+2	p.K97_splice	APOA1BP_uc001fpg.2_Splice_Site_p.K97_splice|APOA1BP_uc001fpi.2_Splice_Site_p.K97_splice|APOA1BP_uc001fpj.2_Splice_Site_p.K14_splice|APOA1BP_uc001fpk.2_5'UTR|APOA1BP_uc010php.1_5'UTR	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein precursor							extracellular region	protein binding			central_nervous_system(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATCGCCAAGGTCAGTGGCACA	0.602													G	156562003	T	G	156562003	5	3	20	1	0	0	0	0	0	0	1	0	781	1681	58	5	299	5	APOA1BP	1	156562003	Splice_Site	SNP	T	TCGA-BR-4362-01A-01D-1158-08	341289	156562003	92688618	134	17805											
AIM2	9447	broad.mit.edu	37	chr1	159033322	159033322	+	Frame_Shift_Del	DEL	T	T	-													tcagctgtagtttttctccaTtttttgacagtgtgaagaat							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:159033321_159033321AT>A	uc001ftj.1	-	4	1205	c.960_960AT>T	c.(958-960)aatfs	p.N320fs		NM_004833	NP_004824	O14862	AIM2_HUMAN	Homo sapiens absent in melanoma 2 (AIM2), mRNA.	320	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					GTTTTTCTCCATTTTTTGACA	0.408													-	159033322	T	-	159033322	7	5	20	1	0	1	0	1	0	0	0	0	432	1493	52	0	80	0	AIM2	1	159033322	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	2471319	159033322	90217299	135	17806											
FCER1A	2205	broad.mit.edu	37	chr1	159277558	159277558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcgtgagaagtactggCtacaattttttatcccattg	8	10	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:159277558C>T	uc001ftq.2	+	6	709	c.610C>T	c.(610-612)CTA>TTA	p.L204L		NM_002001	NP_001992	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor	204	Extracellular (Potential).					integral to plasma membrane				lung(2)|skin(2)|prostate(1)	5	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GAAGTACTGGCTACAATTTTT	0.408													T	159277558	C	T	159277558	2	4	20	1	0	0	0	0	0	0	0	1	5774	796	28	2		2	FCER1A	1	159277558	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	244236	159277558	89973063	136	17807											
PIGM	93183	broad.mit.edu	37	chr1	160000905	160000905	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaacaagcctggaaagtgtAccggaattgacggaggcttt	12	8	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:160000905A>G	uc001fuv.1	-	1	879	c.625T>C	c.(625-627)TAC>CAC	p.Y209H		NM_145167	NP_660150	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	209	Cytoplasmic (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGAAAGTGTACCGGAATTGA	0.498													G	160000905	A	G	160000905	3	3	20	1	0	0	0	0	1	0	0	0	11892	391	14	3	650	3	PIGM	1	160000905	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	723347	160000905	89249716	137	17808											
KCNJ10	3766	broad.mit.edu	37	chr1	160012141	160012141	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtagcgccactgcatgTcaatgaaggttgtccacagg	12	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:160012141T>C	uc001fuw.1	-	2	332	c.182A>G	c.(181-183)GAC>GGC	p.D61G		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	61	Cytoplasmic (By similarity).					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCACTGCATGTCAATGAAGGT	0.542													C	160012141	T	C	160012141	3	2	20	1	0	0	0	0	1	0	0	0	8044	1667	58	3	961	3	KCNJ10	1	160012141	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	11236	160012141	89238480	138	17809											
ATP1A2	477	broad.mit.edu	37	chr1	160098475	160098475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacagccaagcgcatggcaCggaagaactgcctggtgaag	14	10	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:160098475C>T	uc001fvc.2	+	9	1183	c.1051C>T	c.(1051-1053)CGG>TGG	p.R351W	ATP1A2_uc001fvb.2_Missense_Mutation_p.R351W|ATP1A2_uc010piz.1_Missense_Mutation_p.R196W|ATP1A2_uc001fvd.2_Missense_Mutation_p.R87W|ATP1A2_uc009wtg.1_Missense_Mutation_p.R39W	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	351	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCGCATGGCACGGAAGAACTG	0.572													T	160098475	C	T	160098475	3	4	20	1	0	0	0	0	1	0	0	0	1129	527	19	1	1085	1	ATP1A2	1	160098475	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	86334	160098475	89152146	139	17810											
NCSTN	23385	broad.mit.edu	37	chr1	160326990	160326990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctacatggactgagagcCgctggaaagatatccgtgcc	11	11	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:160326990C>T	uc001fvx.2	+	16	2078	c.1954C>T	c.(1954-1956)CGC>TGC	p.R652C	NCSTN_uc001fvy.2_Missense_Mutation_p.R632C|NCSTN_uc010pjf.1_Missense_Mutation_p.R514C|NCSTN_uc001fvz.2_Missense_Mutation_p.R432C|NCSTN_uc010pjg.1_Missense_Mutation_p.R394C	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	652	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GACTGAGAGCCGCTGGAAAGA	0.532													T	160326990	C	T	160326990	3	4	20	1	0	0	0	0	1	0	0	0	10241	652	23	1	2016	1	NCSTN	1	160326990	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	228515	160326990	88923631	140	17811											
FAM78B	149297	broad.mit.edu	37	chr1	166039840	166039840	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtcacactggggtagaAgttgtcattcatgctgacgg	12	9	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:166039840A>C	uc001gdr.2	-	3	1014	c.424T>G	c.(424-426)TTC>GTC	p.F142V	FAM78B_uc010plc.1_RNA|FAM78B_uc001gdq.2_5'Flank	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	hypothetical protein LOC149297	142										central_nervous_system(1)|skin(1)	2	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CTGGGGTAGAAGTTGTCATTC	0.542													C	166039840	A	C	166039840	3	2	20	1	0	0	0	0	1	0	0	0	5627	72	3	5	365	5	FAM78B	1	166039840	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	5712850	166039840	83210781	141	17812											
DUSP27	92235	broad.mit.edu	37	chr1	167095702	167095702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctgggagagcgtgagcaGccacgacatctgggtcctga	15	12	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:167095702G>A	uc001geb.1	+	5	1334	c.1334G>A	c.(1333-1335)AGC>AAC	p.S445N		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	445					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						AGCGTGAGCAGCCACGACATC	0.612													A	167095702	G	A	167095702	3	1	20	1	0	0	0	0	1	0	0	0	4824	971	34	2	1352	2	DUSP27	1	167095702	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1055862	167095702	82154919	142	17813											
CD247	919	broad.mit.edu	37	chr1	167408619	167408619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgctggtacgcgggggCgtctgcgctcctgctgaact	15	14	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:167408619C>T	uc001gei.3	-	3	326	c.181G>A	c.(181-183)GCC>ACC	p.A61T	CD247_uc001gej.3_Missense_Mutation_p.A61T|CD247_uc001gek.2_Missense_Mutation_p.A61T	NM_198053	NP_932170	P20963	CD3Z_HUMAN	T-cell receptor zeta chain isoform 1 precursor	61	Cytoplasmic (Potential).|ITAM 1.			DA -> EP (in Ref. 1; AAA60394).	interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity				0			LUSC - Lung squamous cell carcinoma(543;0.236)			TACGCGGGGGCGTCTGCGCTC	0.672													T	167408619	C	T	167408619	3	4	20	1	0	0	0	0	1	0	0	0	2988	768	27	1	337	1	CD247	1	167408619	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	312917	167408619	81842002	143	17814											
MPZL1	9019	broad.mit.edu	37	chr1	167741720	167741721	+	Frame_Shift_Ins	INS	-	-	A													attaggctctatgtcgtagaINSaaaaggtacttccttgagta							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:167741719_167741720G>GA	uc001geo.3	+	2	668_669	c.466_467G>GA	c.(466-468)gaafs	p.E156fs	MPZL1_uc001gen.4_Frame_Shift_Ins_p.E156fs|MPZL1_uc001gep.3_Frame_Shift_Ins_p.E156fs|MPZL1_uc001geq.3_Intron|MPZL1_uc009wvh.3_Intron	NM_003953	NP_003944	O95297	MPZL1_HUMAN	Homo sapiens myelin protein zero-like 1 (MPZL1), transcript variant 1, mRNA.	156					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					CTATGTCGTAGAAAAAGGTACT	0.406													A	167741721	-	A	167741720	7	5	20	1	0	1	1	0	0	0	0	0	9749	246	9	0	477	0	MPZL1	1	167741720	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	333101	167741720	81508901	144	17815											
FMO3	2328	broad.mit.edu	37	chr1	171086310	171086310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactctcctccttcattgggGcaaagcccaacatcccatgg	7	15	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:171086310G>A	uc001ghi.2	+	9	1438	c.1327G>A	c.(1327-1329)GCA>ACA	p.A443T	FMO3_uc001ghh.2_Missense_Mutation_p.A443T|FMO3_uc010pmb.1_Missense_Mutation_p.A423T|FMO3_uc010pmc.1_Missense_Mutation_p.A380T	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	443					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTCATTGGGGCAAAGCCCAA	0.483													A	171086310	G	A	171086310	3	1	20	1	0	0	0	0	1	0	0	0	5956	1203	42	2	1357	2	FMO3	1	171086310	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3344590	171086310	78164311	145	17816											
QSOX1	5768	broad.mit.edu	37	chr1	180153144	180153144	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accacagttgcaccaaccacTgctaacaagatagctcccac	5	16	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:180153144T>A	uc001gnz.2	+	7	921	c.846T>A	c.(844-846)ACT>ACA	p.T282T	QSOX1_uc001gny.2_Silent_p.T282T|QSOX1_uc001goa.2_Silent_p.T282T	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	282					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						CACCAACCACTGCTAACAAGA	0.537													A	180153144	T	A	180153144	2	1	20	1	0	0	0	0	0	0	0	1	12883	1567	55	5		5	QSOX1	1	180153144	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	9066834	180153144	69097477	146	17817											
NCF2	4688	broad.mit.edu	37	chr1	183534900	183534900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgggatgtcggactgCggagagctttcctcctgaag	16	9	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:183534900C>T	uc001gqj.3	-	10	1214	c.939G>A	c.(937-939)CCG>CCA	p.P313P	NCF2_uc010pod.1_Silent_p.P268P|NCF2_uc010poe.1_Silent_p.P232P|NCF2_uc001gqk.3_Silent_p.P313P	NM_000433	NP_000424	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	313					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			ovary(3)	3						TGTCGGACTGCGGAGAGCTTT	0.597													T	183534900	C	T	183534900	2	4	20	1	0	0	0	0	0	0	0	1	10217	755	27	1		1	NCF2	1	183534900	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	3381756	183534900	65715721	147	17818											
APOBEC4	403314	broad.mit.edu	37	chr1	183616870	183616870	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttgctacttgcaaactgTtctgtgatttccactatctc	5	12	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:183616870T>C	uc001gqn.2	-	2	1319	c.1047A>G	c.(1045-1047)GAA>GAG	p.E349E	RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Intron|RGL1_uc010pog.1_Intron|RGL1_uc010poh.1_Intron	NM_203454	NP_982279	Q8WW27	ABEC4_HUMAN	apolipoprotein B	349					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding				0						TTGCAAACTGTTCTGTGATTT	0.418													C	183616870	T	C	183616870	2	2	20	1	0	0	0	0	0	0	0	1	796	1722	60	3		3	APOBEC4	1	183616870	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	81970	183616870	65633751	148	17819											
RGL1	23179	broad.mit.edu	37	chr1	183881395	183881395	+	Frame_Shift_Del	DEL	A	A	-													ggacacccctgatgagcctcAaaaaaaggtatatactcaac							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:183881394_183881394CA>C	uc001gqm.3	+	15	2307	c.1846_1846CA>C	c.(1846-1848)caafs	p.Q616fs	RGL1_uc010pof.1_Frame_Shift_Del_p.Q386fs|RGL1_uc010pog.2_Frame_Shift_Del_p.Q579fs|RGL1_uc010poh.2_Frame_Shift_Del_p.Q579fs|RGL1_uc001gqo.3_Frame_Shift_Del_p.Q581fs|RGL1_uc010poi.2_Frame_Shift_Del_p.Q552fs	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	581					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TGATGAGCCTCAAAAAAAGGT	0.488													-	183881395	A	-	183881395	7	5	20	1	0	1	0	1	0	0	0	0	13276	130	5	0	1905	0	RGL1	1	183881395	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	264525	183881395	65369226	149	17820											
HMCN1	83872	broad.mit.edu	37	chr1	185931759	185931759	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaccaaagattgcctggacCgttaacgatatgtttatcgt	8	8	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:185931759C>T	uc001grq.1	+	12	2167	c.1938C>T	c.(1936-1938)ACC>ACT	p.T646T	HMCN1_uc001grr.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	646	Ig-like C2-type 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TTGCCTGGACCGTTAACGATA	0.423													T	185931759	C	T	185931759	2	4	20	1	0	0	0	0	0	0	0	1	7220	639	23	1		1	HMCN1	1	185931759	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2050364	185931759	63318862	150	17821											
HMCN1	83872	broad.mit.edu	37	chr1	186147727	186147727	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagctataaccttgcacggTtctcccctgtgagaaacaac	8	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:186147727T>C	uc001grq.1	+	104	16352	c.16123T>C	c.(16123-16125)TTC>CTC	p.F5375L	HMCN1_uc001grs.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5375					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CCTTGCACGGTTCTCCCCTGT	0.453													C	186147727	T	C	186147727	3	2	20	1	0	0	0	0	1	0	0	0	7220	1725	60	3	16537	3	HMCN1	1	186147727	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	215968	186147727	63102894	151	17822											
HMCN1	83872	broad.mit.edu	37	chr1	186158785	186158785	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgcatacacacaggatggAgtgatgcatcccaggacaac	11	10	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:186158785A>G	uc001grq.1	+	107	16912	c.16683A>G	c.(16681-16683)GGA>GGG	p.G5561G	HMCN1_uc001grs.1_Silent_p.G1013G	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5561					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CACAGGATGGAGTGATGCATC	0.468													G	186158785	A	G	186158785	2	3	20	1	0	0	0	0	0	0	0	1	7220	291	11	3		3	HMCN1	1	186158785	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	11058	186158785	63091836	152	17823											
RGS21	431704	broad.mit.edu	37	chr1	192335195	192335196	+	Frame_Shift_Ins	INS	-	-	A													tctgaagtcagagatttataINSaaaaactggtaaatagccaa							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:192335194_192335195T>TA	uc001gsh.3	+	4	573_574	c.399_400T>TA	c.(397-402)tataaafs	p.Y133fs		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	133	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						CAGAGATTTATAAAAAACTGGT	0.366													A	192335196	-	A	192335195	7	5	20	1	0	1	1	0	0	0	0	0	13304	363	13	0	414	0	RGS21	1	192335195	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	6176410	192335195	56915426	153	17824											
RGS2	5997	broad.mit.edu	37	chr1	192780194	192780194	+	Frame_Shift_Del	DEL	A	A	-													ggctggcctgtgaagacttcAaaaaaaccaaatcaccccaa							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:192780193_192780193CA>C	uc001gsl.3	+	3	390	c.357_357CA>C	c.(355-357)ttcfs	p.F119fs		NM_002923	NP_002914	P41220	RGS2_HUMAN	Homo sapiens regulator of G-protein signaling 2, 24kDa (RGS2), mRNA.	119	RGS.				cell cycle|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of cardiac muscle hypertrophy|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	GTPase activator activity|calmodulin binding|signal transducer activity	p.F119L(2)		large_intestine(3)|lung(1)|urinary_tract(1)	5						GTGAAGACTTCAAAAAAACCA	0.398													-	192780194	A	-	192780194	7	5	20	1	0	1	0	1	0	0	0	0	13302	131	5	0	372	0	RGS2	1	192780194	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	444999	192780194	56470427	154	17825											
CDC73	79577	broad.mit.edu	37	chr1	193181570	193181570	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctaccacctctttaataAccatgcttaatgcaaaagac	4	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:193181570A>G	uc001gtb.2	+	13	1360	c.1117A>G	c.(1117-1119)ACC>GCC	p.T373A		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	373					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						CTCTTTAATAACCATGCTTAA	0.313									Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome				G	193181570	A	G	193181570	3	3	20	1	0	0	0	0	1	0	0	0	3085	43	2	3	1167	3	CDC73	1	193181570	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	401376	193181570	56069051	155	17826											
ZBTB41	360023	broad.mit.edu	37	chr1	197128613	197128613	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtcgaactgggtgaactAtatttgcaggttgaggagta	14	5	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:197128613A>G	uc001gtx.1	-	10	2675	c.2606T>C	c.(2605-2607)ATA>ACA	p.I869T	ZBTB41_uc009wyz.1_RNA	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	869					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						TGGGTGAACTATATTTGCAGG	0.408													G	197128613	A	G	197128613	3	3	20	1	0	0	0	0	1	0	0	0	17540	449	16	3	127	3	ZBTB41	1	197128613	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	3947043	197128613	52122008	156	17827											
CRB1	23418	broad.mit.edu	37	chr1	197390150	197390150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatccactgcgaagaagacGtcaatgaatgttcttcaaac	8	9	3	3	rs144011428		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:197390150G>A	uc001gtz.2	+	6	1327	c.1192G>A	c.(1192-1194)GTC>ATC	p.V398I	CRB1_uc010poz.1_Missense_Mutation_p.V329I|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.V286I|CRB1_uc010ppb.1_Missense_Mutation_p.V398I|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.V47I	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	398	Extracellular (Potential).|EGF-like 10; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						CGAAGAAGACGTCAATGAATG	0.338													A	197390150	G	A	197390150	3	1	20	1	0	0	0	0	1	0	0	0	3848	1145	40	1	1214	1	CRB1	1	197390150	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	261537	197390150	51860471	157	17828											
KIF21B	23046	broad.mit.edu	37	chr1	200946499	200946499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccctgagatcacctggcccGaggacctgcccatcggagaa	11	16	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:200946499G>A	uc001gvs.1	-	31	4483	c.4166C>T	c.(4165-4167)TCG>TTG	p.S1389L	KIF21B_uc001gvr.1_Missense_Mutation_p.S1376L|KIF21B_uc009wzl.1_Missense_Mutation_p.S1389L|KIF21B_uc010ppn.1_Missense_Mutation_p.S1376L	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	1389					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						CACCTGGCCCGAGGACCTGCC	0.527													A	200946499	G	A	200946499	3	1	20	1	0	0	0	0	1	0	0	0	8289	1059	37	1	767	1	KIF21B	1	200946499	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3556349	200946499	48304122	158	17829											
PKP1	5317	broad.mit.edu	37	chr1	201282591	201282591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccataaagaagtgccctgtgCgcccgccctcttgtgcctcc	9	17	1	1	rs144063217		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:201282591C>T	uc001gwd.2	+	3	855	c.604C>T	c.(604-606)CGC>TGC	p.R202C	PKP1_uc001gwe.2_Missense_Mutation_p.R202C|PKP1_uc009wzm.2_Intron	NM_000299	NP_000290	Q13835	PKP1_HUMAN	plakophilin 1 isoform 1b	202					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			ovary(2)	2						GTGCCCTGTGCGCCCGCCCTC	0.597													T	201282591	C	T	201282591	3	4	20	1	0	0	0	0	1	0	0	0	11984	768	27	1	614	1	PKP1	1	201282591	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	336092	201282591	47968030	159	17830											
NAV1	89796	broad.mit.edu	37	chr1	201781716	201781716	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagagctgcttcgggtgctCgactgggtacccaagctgtg	15	10	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:201781716C>T	uc001gwu.2	+	26	5486	c.5139C>T	c.(5137-5139)CTC>CTT	p.L1713L	NAV1_uc001gwx.2_Silent_p.L1322L	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1716					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						TTCGGGTGCTCGACTGGGTAC	0.572													T	201781716	C	T	201781716	2	4	20	1	0	0	0	0	0	0	0	1	10183	871	31	1		1	NAV1	1	201781716	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	499125	201781716	47468905	160	17831											
RNPEP	6051	broad.mit.edu	37	chr1	201958135	201958135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttcccttgcttcgacaCgcctgctgttaaatacaagt	6	13	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:201958135C>T	uc001gxd.2	+	2	580	c.551C>T	c.(550-552)ACG>ATG	p.T184M	RNPEP_uc001gxe.2_Translation_Start_Site|RNPEP_uc001gxf.2_Missense_Mutation_p.T53M	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase	184					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			upper_aerodigestive_tract(1)	1				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TGCTTCGACACGCCTGCTGTT	0.502													T	201958135	C	T	201958135	3	4	20	1	0	0	0	0	1	0	0	0	13509	536	19	1	557	1	RNPEP	1	201958135	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	176419	201958135	47292486	161	17832											
MYOG	4656	broad.mit.edu	37	chr1	203054894	203054894	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccttacacgcccacggcaGgcactggcctggacagtgct	11	16	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:203054894G>A	uc001gzd.2	-	1	484	c.196C>T	c.(196-198)CTG>TTG	p.L66L		NM_002479	NP_002470	P15173	MYOG_HUMAN	myogenin	66					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			skin(2)	2						GCCCACGGCAGGCACTGGCCT	0.677													A	203054894	G	A	203054894	2	1	20	1	0	0	0	0	0	0	0	1	10090	991	35	4		4	MYOG	1	203054894	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1096759	203054894	46195727	162	17833											
SNRPE	6635	broad.mit.edu	37	chr1	203830822	203830822	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtcagaaagtgcagaAggttatggtgcagcccatcg	14	9	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:203830822A>C	uc001hai.2	+	1	83	c.35A>C	c.(34-36)AAG>ACG	p.K12T	SNRPE_uc010pqn.1_RNA	NM_003094	NP_003085	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	12					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding				0	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAAGTGCAGAAGGTTATGGTG	0.582													C	203830822	A	C	203830822	3	2	20	1	0	0	0	0	1	0	0	0	14867	72	3	5	37	5	SNRPE	1	203830822	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	775928	203830822	45419799	163	17834											
DSTYK	25778	broad.mit.edu	37	chr1	205119814	205119814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctccagccttacctgtgaAaagttcaggggccatatgga	10	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:205119814A>G	uc001hbw.2	-	11	2525	c.2461T>C	c.(2461-2463)TTC>CTC	p.F821L	DSTYK_uc001hbx.2_Missense_Mutation_p.F821L	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	821	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						TTACCTGTGAAAAGTTCAGGG	0.542													G	205119814	A	G	205119814	3	3	20	1	0	0	0	0	1	0	0	0	4785	14	1	3	340	3	DSTYK	1	205119814	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1288992	205119814	44130807	164	17835											
CTSE	1510	broad.mit.edu	37	chr1	206328829	206328829	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagattaagcagctgcaaaAcgccattggggcagcccccg	11	13	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:206328829A>G	uc001hdu.2	+	7	1014	c.896A>G	c.(895-897)AAC>AGC	p.N299S	CTSE_uc001hdv.2_Intron|CTSE_uc010prs.1_Intron	NM_001910	NP_001901	P14091	CATE_HUMAN	cathepsin E isoform a preproprotein	304					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CAGCTGCAAAACGCCATTGGG	0.607													G	206328829	A	G	206328829	3	3	20	1	0	0	0	0	1	0	0	0	4033	43	2	3	922	3	CTSE	1	206328829	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1209015	206328829	42921792	165	17836											
PLXNA2	5362	broad.mit.edu	37	chr1	208205091	208205091	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaacaagtcgtccacaaacTtctgcagggtgccctggagg	11	12	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:208205091T>G	uc001hgz.2	-	29	5827	c.5069A>C	c.(5068-5070)AAG>ACG	p.K1690T	PLXNA2_uc001hgy.2_5'Flank	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1690	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GTCCACAAACTTCTGCAGGGT	0.577													G	208205091	T	G	208205091	3	3	20	1	0	0	0	0	1	0	0	0	12120	1609	56	5	631	5	PLXNA2	1	208205091	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1876262	208205091	41045530	166	17837											
PLXNA2	5362	broad.mit.edu	37	chr1	208269412	208269412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaaaacttgaactcggtGctgacaaatatcttccctgt	7	9	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:208269412G>A	uc001hgz.2	-	8	2702	c.1944C>T	c.(1942-1944)AGC>AGT	p.S648S		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	648	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGAACTCGGTGCTGACAAATA	0.438													A	208269412	G	A	208269412	2	1	20	1	0	0	0	0	0	0	0	1	12120	1310	46	2		2	PLXNA2	1	208269412	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	64321	208269412	40981209	167	17838											
HHAT	55733	broad.mit.edu	37	chr1	210686512	210686512	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaggtattttgatgttggActgcataatttcttaatcag	8	5	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:210686512A>G	uc009xcx.2	+	9	1189	c.1023A>G	c.(1021-1023)GGA>GGG	p.G341G	HHAT_uc010psq.1_Silent_p.G204G|HHAT_uc001hhz.3_Silent_p.G341G|HHAT_uc010psr.1_Silent_p.G342G|HHAT_uc010pss.1_Silent_p.G296G|HHAT_uc009xcy.2_Silent_p.G276G|HHAT_uc010pst.1_Silent_p.G278G|HHAT_uc010psu.1_Silent_p.G276G|HHAT_uc001hia.3_Silent_p.G31G	NM_001122834	NP_001116306	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	341					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TTGATGTTGGACTGCATAATT	0.244													G	210686512	A	G	210686512	2	3	20	1	0	0	0	0	0	0	0	1	7089	262	10	3		3	HHAT	1	210686512	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2417100	210686512	38564109	168	17839											
RCOR3	55758	broad.mit.edu	37	chr1	211486764	211486764	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttttgtttcctcacctctAggcacagaccccacaggctc	6	15	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:211486764A>G	uc001hig.2	+	11	1313	c.1144_splice	c.e11-2	p.A382_splice	RCOR3_uc010psw.1_Splice_Site_p.A440_splice|RCOR3_uc001hif.2_Splice_Site_p.G359_splice|RCOR3_uc009xcz.2_Splice_Site	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		CCTCACCTCTAGGCACAGACC	0.448													G	211486764	A	G	211486764	5	3	20	1	0	0	0	0	0	0	1	0	13184	434	15	3	1395	3	RCOR3	1	211486764	Splice_Site	SNP	A	TCGA-BR-4362-01A-01D-1158-08	800252	211486764	37763857	169	17840											
RPS6KC1	26750	broad.mit.edu	37	chr1	213277903	213277903	+	Frame_Shift_Del	DEL	T	T	-													atagtaaacagcttgaagacTttttcaaggtttggtagtct							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:213277902_213277902CT>C	uc010ptr.2	+	3	528	c.369_369CT>C	c.(367-369)gacfs	p.D123fs	RPS6KC1_uc001hkd.3_Frame_Shift_Del_p.D111fs|RPS6KC1_uc010pts.2_5'UTR|RPS6KC1_uc010ptt.2_5'UTR|RPS6KC1_uc010ptu.2_5'UTR|RPS6KC1_uc010ptv.2_5'UTR|RPS6KC1_uc001hke.3_5'UTR	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	123	PX.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AGCTTGAAGACTTTTTCAAGG	0.308													-	213277903	T	-	213277903	7	5	20	1	0	1	0	1	0	0	0	0	13658	1609	56	0	384	0	RPS6KC1	1	213277903	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	1791139	213277903	35972718	170	17841											
PTPN14	5784	broad.mit.edu	37	chr1	214557016	214557016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtactccatcttctcccGgagcatggggatctggggca	12	12	3	0	rs143375730	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:214557016G>A	uc001hkk.1	-	13	2453	c.2182C>T	c.(2182-2184)CGG>TGG	p.R728W	PTPN14_uc010pty.1_Missense_Mutation_p.R629W	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	728					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ATCTTCTCCCGGAGCATGGGG	0.612													A	214557016	G	A	214557016	3	1	20	1	0	0	0	0	1	0	0	0	12783	1115	39	1	1409	1	PTPN14	1	214557016	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1279113	214557016	34693605	171	17842											
PTPN14	5784	broad.mit.edu	37	chr1	214575076	214575076	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatccaaacgttcaacttcAttgatgtacatcagttcagc	5	12	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:214575076A>G	uc001hkk.1	-	7	892	c.621T>C	c.(619-621)AAT>AAC	p.N207N	PTPN14_uc010pty.1_Silent_p.N108N	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	207	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GTTCAACTTCATTGATGTACA	0.448													G	214575076	A	G	214575076	2	3	20	1	0	0	0	0	0	0	0	1	12783	214	8	3		3	PTPN14	1	214575076	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	18060	214575076	34675545	172	17843											
KCTD3	51133	broad.mit.edu	37	chr1	215747171	215747172	+	Frame_Shift_Ins	INS	-	-	T													ttatgtggattccagattctINStttttttccaggtatgtctt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:215747170_215747171C>CT	uc001hks.3	+	1	419_420	c.125_126C>CT	c.(124-126)tctfs	p.S42fs	KCTD3_uc001hkt.3_Frame_Shift_Ins_p.S42fs|KCTD3_uc010pub.2_5'UTR	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA.	42	BTB.					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATTCCAGATTCTTTTTTTTCCA	0.228													T	215747172	-	T	215747171	7	5	20	1	0	1	1	0	0	0	0	0	8110	1596	56	0	132	0	KCTD3	1	215747171	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	1172095	215747171	33503450	173	17844											
USH2A	7399	broad.mit.edu	37	chr1	215990473	215990473	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggataccatgttttccataGgagatcatatccaagaatga	8	7	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:215990473G>T	uc001hku.1	-	48	9823	c.9436C>A	c.(9436-9438)CTA>ATA	p.L3146I		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3146	Extracellular (Potential).|Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTTTCCATAGGAGATCATAT	0.408										HNSCC(13;0.011)			T	215990473	G	T	215990473	3	4	20	1	0	0	0	0	1	0	0	0	17033	991	35	5	6272	5	USH2A	1	215990473	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	243302	215990473	33260148	174	17845											
LYPLAL1	127018	broad.mit.edu	37	chr1	219366532	219366532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgatgtcatgtgtcaagtGcttactgatttgattgatga	10	4	2	5			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:219366532G>A	uc001hlq.3	+	3	341	c.300G>A	c.(298-300)GTG>GTA	p.V100V	LYPLAL1_uc001hlr.3_Silent_p.V84V|LYPLAL1_uc001hls.3_Intron|LYPLAL1_uc001hlt.3_Intron|LYPLAL1_uc009xds.2_Intron	NM_138794	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	100						cytoplasm	lysophospholipase activity				0				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TGTGTCAAGTGCTTACTGATT	0.348													A	219366532	G	A	219366532	2	1	20	1	0	0	0	0	0	0	0	1	9118	1306	46	2		2	LYPLAL1	1	219366532	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3376059	219366532	29884089	175	17846											
IARS2	55699	broad.mit.edu	37	chr1	220279373	220279373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatggtatggaagactacGgtgtagcgtctcagcacaac	11	10	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:220279373G>A	uc001hmc.2	+	9	1311	c.1207G>A	c.(1207-1209)GGT>AGT	p.G403S		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	403					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GGAAGACTACGGTGTAGCGTC	0.413													A	220279373	G	A	220279373	3	1	20	1	0	0	0	0	1	0	0	0	7474	1116	39	1	1241	1	IARS2	1	220279373	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	912841	220279373	28971248	176	17847											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220364615	220364615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaatccatccaatttgtgCgtcgcggtacccttagagac	9	11	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:220364615C>T	uc010puk.1	-	14	1446	c.1282G>A	c.(1282-1284)GCA>ACA	p.A428T	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.A8T	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	428					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)		CCAATTTGTGCGTCGCGGTAC	0.413													T	220364615	C	T	220364615	3	4	20	1	0	0	0	0	1	0	0	0	12936	768	27	1	2987	1	RAB3GAP2	1	220364615	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	85242	220364615	28886006	177	17848											
HLX	3142	broad.mit.edu	37	chr1	221057685	221057685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgagaggagccccagccGttctgaaggcgaggctgaga	17	10	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:221057685G>A	uc001hmv.3	+	4	1563	c.1106G>A	c.(1105-1107)CGT>CAT	p.R369H		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	369	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)		AGCCCCAGCCGTTCTGAAGGC	0.667													A	221057685	G	A	221057685	3	1	20	1	0	0	0	0	1	0	0	0	7216	1145	40	1	1120	1	HLX	1	221057685	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	693070	221057685	28192936	178	17849											
C1orf65	164127	broad.mit.edu	37	chr1	223567946	223567946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgaaaacagtgccaggtgCggcgcctgcgggagcaggag	17	11	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:223567946C>T	uc001hoa.2	+	1	1232	c.1129C>T	c.(1129-1131)CGG>TGG	p.R377W		NM_152610	NP_689823	Q8N715	CA065_HUMAN	hypothetical protein LOC164127	377	Potential.									central_nervous_system(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0704)		GTGCCAGGTGCGGCGCCTGCG	0.662													T	223567946	C	T	223567946	3	4	20	1	0	0	0	0	1	0	0	0	2055	759	27	1	1131	1	C1orf65	1	223567946	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2510261	223567946	25682675	179	17850											
TMEM63A	9725	broad.mit.edu	37	chr1	226037670	226037670	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacaggatgggggctgccaAggcctggttcacagcggcaa	16	11	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:226037670A>G	uc001hpm.1	-	21	2264	c.2014T>C	c.(2014-2016)TTG>CTG	p.L672L		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	672	Helical; (Potential).					integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					GGGGCTGCCAAGGCCTGGTTC	0.612													G	226037670	A	G	226037670	2	3	20	1	0	0	0	0	0	0	0	1	16187	69	3	3		3	TMEM63A	1	226037670	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2469724	226037670	23212951	180	17851											
TMEM63A	9725	broad.mit.edu	37	chr1	226053597	226053597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccaccccacctgcttacCggaagtggctctccacagtc	7	19	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:226053597C>T	uc001hpm.1	-	10	996	c.746G>A	c.(745-747)CGG>CAG	p.R249Q		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	249						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					ACCTGCTTACCGGAAGTGGCT	0.622													T	226053597	C	T	226053597	3	4	20	1	0	0	0	0	1	0	0	0	16187	666	23	1	1737	1	TMEM63A	1	226053597	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	15927	226053597	23197024	181	17852											
OBSCN	84033	broad.mit.edu	37	chr1	228401921	228401921	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacggcggtgcgcgtgggCgacacggctatgttttgcgt	17	9	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:228401921C>T	uc009xez.1	+	4	1349	c.1305C>T	c.(1303-1305)GGC>GGT	p.G435G	OBSCN_uc001hsn.2_Silent_p.G435G|uc001hsm.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	435	Ig-like 5.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TGCGCGTGGGCGACACGGCTA	0.711													T	228401921	C	T	228401921	2	4	20	1	0	0	0	0	0	0	0	1	10812	755	27	1		1	OBSCN	1	228401921	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2348324	228401921	20848700	182	17853											
TAF5L	27097	broad.mit.edu	37	chr1	229737984	229737984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaatggatgcgggacacGtctacttggtggggctctga	15	9	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:229737984G>A	uc001htq.2	-	4	1096	c.930C>T	c.(928-930)GAC>GAT	p.D310D	TAF5L_uc001htr.2_Silent_p.D310D	NM_014409	NP_055224	O75529	TAF5L_HUMAN	PCAF associated factor 65 beta isoform a	310					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			ovary(1)	1	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TGCGGGACACGTCTACTTGGT	0.463													A	229737984	G	A	229737984	2	1	20	1	0	0	0	0	0	0	0	1	15526	1136	40	1		1	TAF5L	1	229737984	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1336063	229737984	19512637	183	17854											
AGT	183	broad.mit.edu	37	chr1	230846080	230846080	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgcgcatccagccgggAggtgcagttcttgtccttcc	12	13	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:230846080A>G	uc001hty.3	-	2	1025	c.517T>C	c.(517-519)TCC>CCC	p.S173P	AGT_uc009xfe.2_Missense_Mutation_p.S173P|AGT_uc009xff.2_Missense_Mutation_p.S145P	NM_000029	NP_000020	P01019	ANGT_HUMAN	angiotensinogen preproprotein	173					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)	TCCAGCCGGGAGGTGCAGTTC	0.622													G	230846080	A	G	230846080	3	3	20	1	0	0	0	0	1	0	0	0	399	304	11	3	956	3	AGT	1	230846080	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1108096	230846080	18404541	184	17855											
C1orf131	128061	broad.mit.edu	37	chr1	231362513	231362513	+	Frame_Shift_Del	DEL	T	T	-													tttcttcttcctttgctgccTttttttctttaatttgctcc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:231362512_231362512CT>C	uc001hul.3	-	4	703	c.666_666AG>G	c.(664-666)aagfs	p.K222fs	C1orf131_uc001hum.3_Frame_Shift_Del_p.K221fs|C1orf131_uc001hun.1_Frame_Shift_Del_p.K222fs|C1orf131_uc010pwd.1_Frame_Shift_Del_p.K221fs	NM_152379	NP_689592	Q8NDD1	CA131_HUMAN	Homo sapiens chromosome 1 open reading frame 131 (C1orf131), mRNA.	222	Lys-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CCTTTGCTGCCTTTTTTTCTT	0.373													-	231362513	T	-	231362513	7	5	20	1	0	1	0	1	0	0	0	0	1998	1609	56	0	228	0	C1orf131	1	231362513	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	516433	231362513	17888108	185	17856											
ERO1LB	56605	broad.mit.edu	37	chr1	236384137	236384137	+	Frame_Shift_Del	DEL	A	A	-													tataatggttcttaccttccAaaagcatttaaaagagcaac							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:236384136_236384136CA>C	uc001hxt.3	-	14	1595	c.1339_1339TG>G	c.(1339-1341)ggafs	p.G447fs		NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	Homo sapiens ERO1-like beta (S. cerevisiae) (ERO1LB), mRNA.	447					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TCTTACCTTCCAAAAGCATTT	0.343													-	236384137	A	-	236384137	7	5	20	1	0	1	0	1	0	0	0	0	5240	127	5	0	73	0	ERO1LB	1	236384137	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	5021624	236384137	12866484	186	17857											
HEATR1	55127	broad.mit.edu	37	chr1	236730088	236730088	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcctgtgctccgggacgTgtggcagcgcatccacaaat	14	13	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:236730088T>C	uc001hyd.1	-	30	4291	c.4166A>G	c.(4165-4167)CAC>CGC	p.H1389R	HEATR1_uc009xgh.1_Missense_Mutation_p.H551R	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1389					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTCCGGGACGTGTGGCAGCGC	0.448													C	236730088	T	C	236730088	3	2	20	1	0	0	0	0	1	0	0	0	7027	1696	59	3	2332	3	HEATR1	1	236730088	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	345951	236730088	12520533	187	17858											
ACTN2	88	broad.mit.edu	37	chr1	236906269	236906269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggttgctcaatgagattcGgagactggagcgcttggaac	15	7	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:236906269G>A	uc001hyf.2	+	11	1385	c.1181G>A	c.(1180-1182)CGG>CAG	p.R394Q	ACTN2_uc001hyg.2_Missense_Mutation_p.R186Q|ACTN2_uc009xgi.1_Missense_Mutation_p.R394Q|ACTN2_uc010pxu.1_Missense_Mutation_p.R83Q|ACTN2_uc001hyh.2_Missense_Mutation_p.R82Q	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	394					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AATGAGATTCGGAGACTGGAG	0.547													A	236906269	G	A	236906269	3	1	20	1	0	0	0	0	1	0	0	0	205	1116	39	1	1223	1	ACTN2	1	236906269	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	176181	236906269	12344352	188	17859											
RYR2	6262	broad.mit.edu	37	chr1	237947929	237947929	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcgttttcagaggcttttTccgcatcatttgcagcctgc	9	12	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:237947929T>C	uc001hyl.1	+	90	13037	c.12917T>C	c.(12916-12918)TTC>TCC	p.F4306S	RYR2_uc010pya.1_Missense_Mutation_p.F721S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4306	Helical; Name=M4; (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAGGCTTTTTCCGCATCATT	0.502													C	237947929	T	C	237947929	3	2	20	1	0	0	0	0	1	0	0	0	13769	1783	62	3	13275	3	RYR2	1	237947929	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1041660	237947929	11302692	189	17860											
GREM2	64388	broad.mit.edu	37	chr1	240656299	240656299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgagtcgctcaggttcacGgacatgcaccggcactgctt	11	14	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:240656299G>A	uc001hys.2	-	2	757	c.477C>T	c.(475-477)TCC>TCT	p.S159S		NM_022469	NP_071914	Q9H772	GREM2_HUMAN	gremlin 2 precursor	159	CTCK.				BMP signaling pathway	extracellular space	cytokine activity				0		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TCAGGTTCACGGACATGCACC	0.512													A	240656299	G	A	240656299	2	1	20	1	0	0	0	0	0	0	0	1	6762	1103	39	1		1	GREM2	1	240656299	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2708370	240656299	8594322	190	17861											
FH	2271	broad.mit.edu	37	chr1	241680541	241680541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagatctcacggtctgggCgccataatacttatcatttg	9	10	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:241680541C>T	uc001hyx.2	-	2	240	c.208G>A	c.(208-210)GCC>ACC	p.A70T		NM_000143	NP_000134	P07954	FUMH_HUMAN	fumarate hydratase precursor	70					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			lung(3)|ovary(1)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		ACGGTCTGGGCGCCATAATAC	0.408			Mis|N|F			lieomyomatosis|renal			Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer				T	241680541	C	T	241680541	3	4	20	1	0	0	0	0	1	0	0	0	5875	768	27	1	1360	1	FH	1	241680541	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1024242	241680541	7570080	191	17862											
CNST	163882	broad.mit.edu	37	chr1	246797842	246797842	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattcagaaaagggatttaaTggtgaagattttgaacggct	11	3	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:246797842T>C	uc001ibp.2	+	6	1149	c.771T>C	c.(769-771)AAT>AAC	p.N257N	CNST_uc001ibo.3_Silent_p.N257N	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	257					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						AGGGATTTAATGGTGAAGATT	0.343													C	246797842	T	C	246797842	2	2	20	1	0	0	0	0	0	0	0	1	3634	1461	51	3		3	CNST	1	246797842	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	5117301	246797842	2452779	192	17863											
ZNF124	7678	broad.mit.edu	37	chr1	247319909	247319909	+	Frame_Shift_Del	DEL	T	T	-													gggcttttctccagtatgagTttttttatgcttccaaaggg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:247319908_247319908GT>G	uc001ick.3	-	3	1155	c.1016_1016AC>C	c.(1015-1017)actfs	p.T339fs	ZNF124_uc001ici.3_Intron|ZNF124_uc001icj.1_Frame_Shift_Del_p.T277fs	NM_003431	NP_003422	Q15973	ZN124_HUMAN	Homo sapiens zinc finger protein 124 (ZNF124), transcript variant 1, mRNA.	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TCCAGTATGAGTTTTTTTATG	0.368													-	247319909	T	-	247319909	7	5	20	1	0	1	0	1	0	0	0	0	17717	1725	60	0	44	0	ZNF124	1	247319909	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	522067	247319909	1930712	193	17864											
OR2T6	254879	broad.mit.edu	37	chr1	248550915	248550915	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaactcagtaccatgaaTgaaaacaatgaaaccttgac	5	9	2	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:248550915T>C	uc001iei.1	+	1	6	c.6T>C	c.(4-6)AAT>AAC	p.N2N		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	2	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTACCATGAATGAAAACAATG	0.383													C	248550915	T	C	248550915	2	2	20	1	0	0	0	0	0	0	0	1	11029	1461	51	3		3	OR2T6	1	248550915	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1231006	248550915	699706	194	17865											
OR2T1	26696	broad.mit.edu	37	chr1	248569514	248569514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttcaacagaaaggaaacCtcaggtcttatttttgccat	7	9	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:248569514C>T	uc010pzm.1	+	1	219	c.219C>T	c.(217-219)ACC>ACT	p.T73T		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	73	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAAAGGAAACCTCAGGTCTTA	0.423													T	248569514	C	T	248569514	2	4	20	1	0	0	0	0	0	0	0	1	11016	668	24	4		4	OR2T1	1	248569514	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	18599	248569514	681107	195	17866											
SNTG2	54221	broad.mit.edu	37	chr2	1094066	1094066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcacaacgtccctgtcGtcatatcaaaaatattcgaa	6	11	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:1094066G>A	uc002qwq.2	+	4	423	c.295G>A	c.(295-297)GTC>ATC	p.V99I	SNTG2_uc002qwp.2_RNA|SNTG2_uc010ewi.2_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	99	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CGTCCCTGTCGTCATATCAAA	0.378													A	1094066	G	A	1094066	3	1	20	1	0	0	0	0	1	0	0	0	14875	1145	40	1	309	1	SNTG2	2	1094066	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08		1094066	242105307	196	17867											
PXDN	7837	broad.mit.edu	37	chr2	1653372	1653372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagcagttgttcacgcgcCggtgggcggtacagcccgac	15	14	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:1653372C>T	uc002qxa.2	-	17	2244	c.2180G>A	c.(2179-2181)CGG>CAG	p.R727Q		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	727					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTTCACGCGCCGGTGGGCGGT	0.602													T	1653372	C	T	1653372	3	4	20	1	0	0	0	0	1	0	0	0	12847	652	23	1	2287	1	PXDN	2	1653372	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	559306	1653372	241546001	197	17868											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10923322	10923322	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctgtggagatcccgggacTgcaactcaataaccaagact	9	11	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:10923322T>C	uc002ras.2	+	14	1326	c.1217T>C	c.(1216-1218)CTG>CCG	p.L406P	ATP6V1C2_uc002rat.2_Missense_Mutation_p.L360P	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	vacuolar H+ ATPase C2 isoform a	406					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		ATCCCGGGACTGCAACTCAAT	0.423													C	10923322	T	C	10923322	3	2	20	1	0	0	0	0	1	0	0	0	1181	1580	55	3	1267	3	ATP6V1C2	2	10923322	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	9269950	10923322	232276051	198	17869											
RAD51AP2	729475	broad.mit.edu	37	chr2	17697058	17697058	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttacttattaatgaaacTgactgtacagaaaacatgtc	5	8	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:17697058T>C	uc002rcl.1	-	1	2649	c.2625A>G	c.(2623-2625)TCA>TCG	p.S875S	RAD51AP2_uc010exn.1_Silent_p.S866S	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	875										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTAATGAAACTGACTGTACAG	0.269													C	17697058	T	C	17697058	2	2	20	1	0	0	0	0	0	0	0	1	12987	1567	55	3		3	RAD51AP2	2	17697058	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	6773736	17697058	225502315	199	17870											
KIF3C	3797	broad.mit.edu	37	chr2	26203671	26203671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtgtccttggggtcctcGttcacctggggcttgttctt	13	10	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:26203671G>A	uc002rgu.2	-	1	1773	c.1116C>T	c.(1114-1116)AAC>AAT	p.N372N	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Silent_p.N372N	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	372	Kinesin-motor.				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)					TGGGGTCCTCGTTCACCTGGG	0.607													A	26203671	G	A	26203671	2	1	20	1	0	0	0	0	0	0	0	1	8302	1136	40	1		1	KIF3C	2	26203671	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	8506613	26203671	216995702	200	17871											
OTOF	9381	broad.mit.edu	37	chr2	26684636	26684636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgcgcggggatcttgtactCggtctcgtcccaggagaaca	13	13	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:26684636C>T	uc002rhk.2	-	43	5588	c.5461G>A	c.(5461-5463)GAG>AAG	p.E1821K	OTOF_uc010yla.1_Missense_Mutation_p.E551K|OTOF_uc002rhh.2_Missense_Mutation_p.E1054K|OTOF_uc002rhi.2_Missense_Mutation_p.E1131K|OTOF_uc002rhj.2_Missense_Mutation_p.E1054K	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1821	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTTGTACTCGGTCTCGTCC	0.607													T	26684636	C	T	26684636	3	4	20	1	0	0	0	0	1	0	0	0	11303	893	31	1	733	1	OTOF	2	26684636	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	480965	26684636	216514737	201	17872											
C2orf18	54978	broad.mit.edu	37	chr2	27001127	27001127	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtcaccaaggaactgagCgccaccacccgcatggtgtt	11	14	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:27001127C>T	uc002rhp.1	+	6	940	c.864C>T	c.(862-864)AGC>AGT	p.S288S	C2orf18_uc002rhq.1_Silent_p.S205S|C2orf18_uc010eyo.1_Silent_p.S235S|C2orf18_uc010ylc.1_Silent_p.S141S	NM_017877	NP_060347	Q8N357	CB018_HUMAN	ANT2-binding protein precursor	288						integral to membrane|lysosomal membrane					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAACTGAGCGCCACCACCC	0.612													T	27001127	C	T	27001127	2	4	20	1	0	0	0	0	0	0	0	1	2158	767	27	1		1	C2orf18	2	27001127	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	316491	27001127	216198246	202	17873											
EMILIN1	11117	broad.mit.edu	37	chr2	27305128	27305128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagctgacgcggctgcccGccctggggtgcatgaaaccc	14	16	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:27305128G>A	uc002rii.3	+	4	1117	c.689G>A	c.(688-690)CGC>CAC	p.R230H	EMILIN1_uc010eyq.1_Missense_Mutation_p.R230H|EMILIN1_uc002rik.3_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	230	Potential.				cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGGCTGCCCGCCCTGGGGTG	0.662													A	27305128	G	A	27305128	3	1	20	1	0	0	0	0	1	0	0	0	5093	1087	38	1	703	1	EMILIN1	2	27305128	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	304001	27305128	215894245	203	17874											
CAD	790	broad.mit.edu	37	chr2	27458193	27458193	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagtactggggaggtggcCggctttggggagagccgctg	19	9	0	1	rs150732650		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:27458193C>T	uc002rji.2	+	24	4029	c.3867C>T	c.(3865-3867)GCC>GCT	p.A1289A	CAD_uc010eyw.2_Silent_p.A1226A	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1289	CPSase B.|CPSase (Carbamoyl-phosphate synthase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GGGAGGTGGCCGGCTTTGGGG	0.572													T	27458193	C	T	27458193	2	4	20	1	0	0	0	0	0	0	0	1	2565	639	23	1		1	CAD	2	27458193	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	153065	27458193	215741180	204	17875											
CAD	790	broad.mit.edu	37	chr2	27460609	27460609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaggctggcgcccggtgCgactttgcgctattccttgg	15	12	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:27460609C>T	uc002rji.2	+	29	4749	c.4587C>T	c.(4585-4587)TGC>TGT	p.C1529C	CAD_uc010eyw.2_Silent_p.C1466C	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1529	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCGCCCGGTGCGACTTTGCGC	0.627													T	27460609	C	T	27460609	2	4	20	1	0	0	0	0	0	0	0	1	2565	776	27	1		1	CAD	2	27460609	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2416	27460609	215738764	205	17876											
SLC30A3	7781	broad.mit.edu	37	chr2	27479380	27479380	+	Frame_Shift_Del	DEL	G	G	-													aggttcgaaccccacattgcGgggggtacctgcaaccagca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:27479379_27479379CG>C	uc002rjk.3	-	6	1079	c.893_893CG>G	c.(892-894)cgcfs	p.R298fs	SLC30A3_uc002rjj.3_Frame_Shift_Del_p.A144fs|SLC30A3_uc010ylh.2_Frame_Shift_Del_p.R293fs	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.	298					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	p.R298H(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCACATTGCGGGGGGTACC	0.607													-	27479380	G	-	27479380	7	5	20	1	0	1	0	1	0	0	0	0	14556	1116	39	0	282	0	SLC30A3	2	27479380	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	18771	27479380	215719993	206	17877											
TRIM54	57159	broad.mit.edu	37	chr2	27505617	27505617	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggatgaacttcacagtgggTttcaagccgctgctagggga	15	8	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:27505617T>G	uc002rjo.2	+	1	18	c.18T>G	c.(16-18)GGT>GGG	p.G6G	TRIM54_uc002rjn.2_Silent_p.G6G	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	ring finger protein 30 isoform 2	6					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACAGTGGGTTTCAAGCCGC	0.592													G	27505617	T	G	27505617	2	3	20	1	0	0	0	0	0	0	0	1	16525	1712	60	5		5	TRIM54	2	27505617	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	26237	27505617	215693756	207	17878											
KRTCAP3	200634	broad.mit.edu	37	chr2	27666007	27666009	+	In_Frame_Del	DEL	CTT	CTT	-													ttgcctgctccctgggcctcCttcttgctgtgtcactcact							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:27666006_27666008CCTT>C	uc002rks.3	+	3	386_388	c.339_341CCTT>C	c.(337-342)ctcctt>ctCt	p.113_114LL>L	KRTCAP3_uc010ylr.2_In_Frame_Del_p.113_114LL>L|KRTCAP3_uc021vfd.1_In_Frame_Del_p.113_114LL>L|KRTCAP3_uc002rkt.3_In_Frame_Del_p.95_96LL>L	NM_173853	NP_776252	Q53RY4	KCP3_HUMAN	Homo sapiens keratinocyte associated protein 3 (KRTCAP3), transcript variant 2, mRNA.	113						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					CCCTGGGCCTCCTTCTTGCTGTG	0.631													-	27666009	CTT	-	27666007	7	5	20	1	0	1	0	1	0	0	0	0	8579	681	24	0	354	0	KRTCAP3	2	27666007	In_Frame_Del	DEL	CTT	TCGA-BR-4362-01A-01D-1158-08	160390	27666007	215533366	208	17879											
SRD5A2	6716	broad.mit.edu	37	chr2	31805786	31805786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggatccccgcgggcaccGcgaaggaaggcagctcctgc	15	15	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:31805786G>A	uc002rnw.1	-	2	256	c.185C>T	c.(184-186)GCG>GTG	p.A62V		NM_000348	NP_000339	P31213	S5A2_HUMAN	3-oxo-5 alpha-steroid 4-dehydrogenase 2	62					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity				0	Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	CGCGGGCACCGCGAAGGAAGG	0.687													A	31805786	G	A	31805786	3	1	20	1	0	0	0	0	1	0	0	0	15138	1086	38	1	599	1	SRD5A2	2	31805786	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	4139779	31805786	211393587	209	17880											
YIPF4	84272	broad.mit.edu	37	chr2	32526480	32526480	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccaagtccttggagttatAggatattcattacttcctct	8	9	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:32526480A>G	uc002rok.2	+	5	780	c.513A>G	c.(511-513)ATA>ATG	p.I171M		NM_032312	NP_115688	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	171	Helical; (Potential).					endoplasmic reticulum|integral to membrane	protein binding				0	Acute lymphoblastic leukemia(172;0.155)					TTGGAGTTATAGGATATTCAT	0.318													G	32526480	A	G	32526480	3	3	20	1	0	0	0	0	1	0	0	0	17477	410	15	3	531	3	YIPF4	2	32526480	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	720694	32526480	210672893	210	17881											
BIRC6	57448	broad.mit.edu	37	chr2	32626574	32626574	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcctatgatccagcaattgTacaacagcttattctatcag	6	10	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:32626574T>C	uc010ezu.2	+	8	1435	c.1301T>C	c.(1300-1302)GTA>GCA	p.V434A		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	434					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCAGCAATTGTACAACAGCTT	0.383													C	32626574	T	C	32626574	3	2	20	1	0	0	0	0	1	0	0	0	1438	1638	57	3	1331	3	BIRC6	2	32626574	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	100094	32626574	210572799	211	17882											
HEATR5B	54497	broad.mit.edu	37	chr2	37255949	37255949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataattttcgatctgtctccCggtctagcattccaaaaaga	6	10	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:37255949C>T	uc002rpp.1	-	23	3572	c.3476G>A	c.(3475-3477)CGG>CAG	p.R1159Q		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1159							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				ATCTGTCTCCCGGTCTAGCAT	0.428													T	37255949	C	T	37255949	3	4	20	1	0	0	0	0	1	0	0	0	7032	652	23	1	2795	1	HEATR5B	2	37255949	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	4629375	37255949	205943424	212	17883											
FAM82A1	151393	broad.mit.edu	37	chr2	38224583	38224583	+	Frame_Shift_Del	DEL	A	A	-													caaaactgagctggattgagAaaaaaatggctgctactctg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:38224582_38224582GA>G	uc002rqn.2	+	7	1629	c.1503_1503GA>G	c.(1501-1503)gagfs	p.E501fs	FAM82A1_uc002rqk.1_Frame_Shift_Del_p.E178fs|FAM82A1_uc002rql.3_Frame_Shift_Del_p.E323fs|FAM82A1_uc021vga.1_Frame_Shift_Del_p.E323fs|FAM82A1_uc002rqm.3_Frame_Shift_Del_p.E178fs	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	323						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						GCTGGATTGAGAAAAAAATGG	0.358													-	38224583	A	-	38224583	7	5	20	1	0	1	0	1	0	0	0	0	5630	247	9	0	1990	0	FAM82A1	2	38224583	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	968634	38224583	204974790	213	17884											
DHX57	90957	broad.mit.edu	37	chr2	39053105	39053105	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaccccagatgcaacacgGcctgctcggcctttcctttg	9	16	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:39053105G>A	uc002rrf.2	-	16	2997	c.2898C>T	c.(2896-2898)GGC>GGT	p.G966G	DHX57_uc002rrd.3_Silent_p.G350G|DHX57_uc002rre.2_Silent_p.G399G	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	966	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)				ATGCAACACGGCCTGCTCGGC	0.428													A	39053105	G	A	39053105	2	1	20	1	0	0	0	0	0	0	0	1	4513	1190	42	2		2	DHX57	2	39053105	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	828522	39053105	204146268	214	17885											
SLC8A1	6546	broad.mit.edu	37	chr2	40392055	40392055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctctcccaggatggggCgccccatttctgcaatgcgc	12	14	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:40392055C>T	uc002rrx.2	-	7	2132	c.2108G>A	c.(2107-2109)CGC>CAC	p.R703H	uc002rrw.2_Intron|SLC8A1_uc002rry.2_Missense_Mutation_p.R698H|SLC8A1_uc002rrz.2_Missense_Mutation_p.R690H|SLC8A1_uc002rsa.2_Missense_Mutation_p.R667H|SLC8A1_uc002rsd.3_Missense_Mutation_p.R667H	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	703	Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAGGATGGGGCGCCCCATTTC	0.512													T	40392055	C	T	40392055	3	4	20	1	0	0	0	0	1	0	0	0	14706	768	27	1	829	1	SLC8A1	2	40392055	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1338950	40392055	202807318	215	17886											
KCNG3	170850	broad.mit.edu	37	chr2	42720441	42720441	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggatgaagccgaaggcctcCgagtgccggtcgaagaagta	15	9	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:42720441C>A	uc002rsn.2	-	1	797	c.201G>T	c.(199-201)TCG>TCT	p.S67S	MTA3_uc002rso.1_5'Flank|KCNG3_uc002rsm.2_Silent_p.S67S	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G,	67	Cytoplasmic (Potential).					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)	1						CGAAGGCCTCCGAGTGCCGGT	0.657													A	42720441	C	A	42720441	2	1	20	1	0	0	0	0	0	0	0	1	8029	639	23	5		5	KCNG3	2	42720441	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2328386	42720441	200478932	216	17887											
THADA	63892	broad.mit.edu	37	chr2	43458106	43458106	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcaacatgccgcttctgttCttggaagagttaactgcctc	8	11	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:43458106C>A	uc002rsw.3	-	38	6195	c.5843G>T	c.(5842-5844)AGA>ATA	p.R1948I	THADA_uc010far.2_Missense_Mutation_p.R1143I|THADA_uc002rsx.3_Missense_Mutation_p.R1948I|THADA_uc002rsy.3_RNA	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1948							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CGCTTCTGTTCTTGGAAGAGT	0.453													A	43458106	C	A	43458106	3	1	20	1	0	0	0	0	1	0	0	0	15837	913	32	5	22	5	THADA	2	43458106	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	737665	43458106	199741267	217	17888											
PREPL	9581	broad.mit.edu	37	chr2	44548581	44548581	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggaatttaatttgggctgTaatctaaaagaaacacatta	7	5	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:44548581T>C	uc002ruf.2	-	14	2133	c.2098A>G	c.(2098-2100)ACA>GCA	p.T700A	PREPL_uc002rug.2_Missense_Mutation_p.T634A|PREPL_uc002ruh.2_Missense_Mutation_p.T638A|PREPL_uc010fax.2_Missense_Mutation_p.T700A|PREPL_uc002rui.3_Missense_Mutation_p.T611A|PREPL_uc002ruj.1_Missense_Mutation_p.T611A|PREPL_uc002ruk.1_Missense_Mutation_p.T700A	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like isoform C	700					proteolysis	cytosol	serine-type endopeptidase activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATTTGGGCTGTAATCTAAAAG	0.348													C	44548581	T	C	44548581	3	2	20	1	0	0	0	0	1	0	0	0	12475	1638	57	3	89	3	PREPL	2	44548581	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1090475	44548581	198650792	218	17889											
PREPL	9581	broad.mit.edu	37	chr2	44550553	44550553	+	Splice_Site	DEL	A	A	-													aacatccaagaaaggtgcctAaaaaaaaggcaaagaaactt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:44550552_44550552TA>T	uc002ruf.3	-	11	2706	c.1747_splice	c.e11-1	p.A583_splice	PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	583					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAAAGGTGCCTAAAAAAAAGG	0.333													-	44550553	A	-	44550553	8	5	20	1	0	1	0	1	0	0	1	0	12475	377	13	0		0	PREPL	2	44550553	Splice_Site	DEL	A	TCGA-BR-4362-01A-01D-1158-08	1972	44550553	198648820	219	17890											
EPAS1	2034	broad.mit.edu	37	chr2	46596995	46596995	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgattggttaccaccctgAggagctgcttggccgctcag	12	12	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:46596995A>C	uc002ruv.2	+	7	1297	c.809A>C	c.(808-810)GAG>GCG	p.E270A		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	270	PAS 2.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TACCACCCTGAGGAGCTGCTT	0.488													C	46596995	A	C	46596995	3	2	20	1	0	0	0	0	1	0	0	0	5150	304	11	5	835	5	EPAS1	2	46596995	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2046442	46596995	196602378	220	17891											
FBXO11	80204	broad.mit.edu	37	chr2	48046210	48046210	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctattactccttgtcccTtttcatgctaaatgaaagtt	4	10	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:48046210T>C	uc010fbl.2	-	15	1667	c.1553A>G	c.(1552-1554)AAG>AGG	p.K518R	FBXO11_uc002rwe.2_Missense_Mutation_p.K518R|FBXO11_uc002rwf.2_Missense_Mutation_p.K518R|FBXO11_uc002rwg.1_Missense_Mutation_p.K518R|FBXO11_uc010fbk.2_Missense_Mutation_p.K26R	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	602	PbH1 10.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCCTTGTCCCTTTTCATGCTA	0.368													C	48046210	T	C	48046210	3	2	20	1	0	0	0	0	1	0	0	0	5727	1609	56	3	1104	3	FBXO11	2	48046210	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1449215	48046210	195153163	221	17892											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	20	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-BR-4362-01A-01D-1158-08	6120930	54167140	189032233	222	17893											
BCL11A	53335	broad.mit.edu	37	chr2	60688143	60688143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccttctcgagcttgatgCgcttagagaaggggctcagc	12	11	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:60688143C>T	uc002sae.1	-	4	2132	c.1904G>A	c.(1903-1905)CGC>CAC	p.R635H	BCL11A_uc002sab.2_Missense_Mutation_p.R635H|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.R304H|BCL11A_uc010ypj.1_Missense_Mutation_p.R601H|BCL11A_uc002sad.1_Missense_Mutation_p.R483H|BCL11A_uc002saf.1_Missense_Mutation_p.R601H	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	635					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GAGCTTGATGCGCTTAGAGAA	0.682			T	IGH@	B-CLL								T	60688143	C	T	60688143	3	4	20	1	0	0	0	0	1	0	0	0	1363	768	27	1	713	1	BCL11A	2	60688143	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	6521003	60688143	182511230	223	17894											
PUS10	150962	broad.mit.edu	37	chr2	61175289	61175289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccttcggtgaaggacgCgcaaaggtgttttctggtcg	17	8	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:61175289C>T	uc010fci.2	-	16	1400	c.1340G>A	c.(1339-1341)CGC>CAC	p.R447H	PUS10_uc002sao.2_Missense_Mutation_p.R447H|PUS10_uc010ypk.1_Missense_Mutation_p.R224H	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	447	RNA binding thumb loop (Potential).				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			ovary(2)|large_intestine(1)|kidney(1)	4			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			GTGAAGGACGCGCAAAGGTGT	0.527													T	61175289	C	T	61175289	3	4	20	1	0	0	0	0	1	0	0	0	12831	768	27	1	261	1	PUS10	2	61175289	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	487146	61175289	182024084	224	17895											
USP34	9736	broad.mit.edu	37	chr2	61577527	61577527	+	Splice_Site	DEL	A	A	-													ggatgccaagtacagtgtctAaaaaaaagagggagagattt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:61577526_61577526TA>T	uc002sbe.3	-	12	1400	c.1378_splice	c.e12-1	p.T460_splice		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	460					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTACAGTGTCTAAAAAAAAGA	0.338													-	61577527	A	-	61577527	8	5	20	1	0	1	0	1	0	0	1	0	17062	377	13	0		0	USP34	2	61577527	Splice_Site	DEL	A	TCGA-BR-4362-01A-01D-1158-08	402238	61577527	181621846	225	17896											
UGP2	7360	broad.mit.edu	37	chr2	64111166	64111167	+	Frame_Shift_Ins	INS	-	-	AA													taacacggatgaagataccaINSaaaaaatactacagaagtac							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:64111165_64111166C>CAA	uc010ypx.2	+	4	547_548	c.540_541C>CAA	c.(538-543)accaaafs	p.T180fs	UGP2_uc002scl.3_Frame_Shift_Ins_p.T160fs|UGP2_uc002scm.3_Frame_Shift_Ins_p.T171fs	NM_001001521	NP_001001521	Q16851	UGPA_HUMAN	Homo sapiens UDP-glucose pyrophosphorylase 2 (UGP2), transcript variant 2, mRNA.	171					UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycogen biosynthetic process|phosphorylation|xenobiotic metabolic process	cytosol	UTP:glucose-1-phosphate uridylyltransferase activity|metal ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						ATGAAGATACCAAAAAAATACT	0.327													AA	64111167	-	AA	64111166	7	5	20	1	0	1	1	0	0	0	0	0	16940	131	5	0	532	0	UGP2	2	64111166	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	2533639	64111166	179088207	226	17897											
GKN2	200504	broad.mit.edu	37	chr2	69173591	69173591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagaacatgttgtccagaGcctagatcggtataacagaa	11	7	0	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:69173591G>A	uc002sfa.2	-	5	426	c.317C>T	c.(316-318)GCT>GTT	p.A106V	GKN2_uc002sfb.3_Missense_Mutation_p.A106V	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN	trefoil factor interactions(z) 1 precursor	106	BRICHOS.					extracellular region					0						GTTGTCCAGAGCCTAGATCGG	0.378													A	69173591	G	A	69173591	3	1	20	1	0	0	0	0	1	0	0	0	6425	985	34	2	245	2	GKN2	2	69173591	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	5062425	69173591	174025782	227	17898											
ASPRV1	151516	broad.mit.edu	37	chr2	70187970	70187970	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggagcacatcagtgccaAtgatggcttcctcggcactc	10	14	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:70187970A>G	uc002sfz.3	-	1	1428	c.851T>C	c.(850-852)ATT>ACT	p.I284T		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1 precursor	284	Peptidase A2.|Extracellular (Potential).				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			ovary(1)	1						ATCAGTGCCAATGATGGCTTC	0.557													G	70187970	A	G	70187970	3	3	20	1	0	0	0	0	1	0	0	0	1058	101	4	3	184	3	ASPRV1	2	70187970	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1014379	70187970	173011403	228	17899											
ADD2	119	broad.mit.edu	37	chr2	70890743	70890743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtggtcatctggctcagGcctttgctgaggatttcctc	12	11	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:70890743G>A	uc002sgz.2	-	16	2460	c.1995C>T	c.(1993-1995)GGC>GGT	p.G665G	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_3'UTR|ADD2_uc002sha.2_Silent_p.G359G|ADD2_uc002sgx.2_3'UTR	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	665					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						TCTGGCTCAGGCCTTTGCTGA	0.607													A	70890743	G	A	70890743	2	1	20	1	0	0	0	0	0	0	0	1	305	1190	42	2		2	ADD2	2	70890743	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	702773	70890743	172308630	229	17900											
ATP6V1B1	525	broad.mit.edu	37	chr2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-													tttcttctccctcagatctaCccccccatcaacgtgctccc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:71191572_71191572AC>A	uc002shj.3	+	11	1235	c.1148_1148AC>A	c.(1147-1149)tacfs	p.Y383fs	ATP6V1B1_uc010fdx.3_Frame_Shift_Del_p.Y341fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	383					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATC	0.542											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	71191573	C	-	71191573	7	5	20	1	0	1	0	1	0	0	0	0	1178	518	18	0	1195	0	ATP6V1B1	2	71191573	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	300830	71191573	172007800	230	17901											
DYSF	8291	broad.mit.edu	37	chr2	71817411	71817411	+	Frame_Shift_Del	DEL	T	T	-													gctgcgatggacaaggactcTttttctggtaggtgggagag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:71817410_71817410CT>C	uc010fen.3	+	31	3707	c.3566_3566CT>C	c.(3565-3567)tctfs	p.S1189fs	DYSF_uc010fei.3_Frame_Shift_Del_p.S1188fs|DYSF_uc010feh.3_Frame_Shift_Del_p.S1157fs|DYSF_uc002sig.4_Frame_Shift_Del_p.S1157fs|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Frame_Shift_Del_p.S1202fs|DYSF_uc010fee.3_Frame_Shift_Del_p.S1171fs|DYSF_uc010fef.3_Frame_Shift_Del_p.S1188fs|DYSF_uc002sie.3_Frame_Shift_Del_p.S1171fs|DYSF_uc010feo.3_Frame_Shift_Del_p.S1203fs|DYSF_uc010fej.3_Frame_Shift_Del_p.S1158fs|DYSF_uc010fel.3_Frame_Shift_Del_p.S1158fs|DYSF_uc010fem.3_Frame_Shift_Del_p.S1172fs|DYSF_uc002sif.3_Frame_Shift_Del_p.S1172fs|DYSF_uc010fek.3_Frame_Shift_Del_p.S1189fs|DYSF_uc010yqy.2_Frame_Shift_Del_p.S52fs	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1171	C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GACAAGGACTCTTTTTCTGGT	0.552													-	71817411	T	-	71817411	7	5	20	1	0	1	0	1	0	0	0	0	4859	1596	56	0	3831	0	DYSF	2	71817411	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	625838	71817411	171381962	231	17902											
DYSF	8291	broad.mit.edu	37	chr2	71839797	71839797	+	Frame_Shift_Del	DEL	C	C	-													cccagggaggagctctactgCccccccatcaccgtcaaggt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:71839796_71839796GC>G	uc010fen.3	+	38	4388	c.4247_4247GC>G	c.(4246-4248)tgcfs	p.C1416fs	DYSF_uc010fei.3_Frame_Shift_Del_p.C1415fs|DYSF_uc010feh.3_Frame_Shift_Del_p.C1384fs|DYSF_uc002sig.4_Frame_Shift_Del_p.C1384fs|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Frame_Shift_Del_p.C1429fs|DYSF_uc010fee.3_Frame_Shift_Del_p.C1398fs|DYSF_uc010fef.3_Frame_Shift_Del_p.C1415fs|DYSF_uc002sie.3_Frame_Shift_Del_p.C1398fs|DYSF_uc010feo.3_Frame_Shift_Del_p.C1430fs|DYSF_uc010fej.3_Frame_Shift_Del_p.C1385fs|DYSF_uc010fel.3_Frame_Shift_Del_p.C1385fs|DYSF_uc010fem.3_Frame_Shift_Del_p.C1399fs|DYSF_uc002sif.3_Frame_Shift_Del_p.C1399fs|DYSF_uc010fek.3_Frame_Shift_Del_p.C1416fs|DYSF_uc010yqy.2_Frame_Shift_Del_p.C279fs|DYSF_uc010yqz.2_Frame_Shift_Del_p.C138fs	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1398						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGCTCTACTGCCCCCCCATC	0.617													-	71839797	C	-	71839797	7	5	20	1	0	1	0	1	0	0	0	0	4859	747	26	0	4540	0	DYSF	2	71839797	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	22386	71839797	171359576	232	17903											
ALMS1	7840	broad.mit.edu	37	chr2	73762058	73762058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccaaatcagataccaccGttgaaagctcccattcaggt	6	12	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:73762058G>A	uc002sje.1	+	14	10003	c.9892G>A	c.(9892-9894)GTT>ATT	p.V3298I	ALMS1_uc002sjf.1_Missense_Mutation_p.V3254I|ALMS1_uc002sjg.2_Missense_Mutation_p.V2684I|ALMS1_uc002sjh.1_Missense_Mutation_p.V2684I|ALMS1_uc010fev.1_Missense_Mutation_p.V113I	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3296					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						AGATACCACCGTTGAAAGCTC	0.343													A	73762058	G	A	73762058	3	1	20	1	0	0	0	0	1	0	0	0	535	1145	40	1	9932	1	ALMS1	2	73762058	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1922261	73762058	169437315	233	17904											
NAT8B	51471	broad.mit.edu	37	chr2	73928285	73928286	+	Frame_Shift_Ins	INS	-	-	C													accaggagtagggcaagggcINSccccccaagtaagagtatga							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:73928284_73928285G>GC	uc002sjk.1	-	1	180_181	c.145_146C>GC	c.(145-147)gccfs	p.A49fs		NM_016347	NP_057431	Q9UHF3	NAT8B_HUMAN	Homo sapiens N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene) (NAT8B), mRNA.	50					gastrulation with mouth forming second	integral to membrane	N-acetyltransferase activity										TAGGGCAAGGGCCCCCCCAAGT	0.624													C	73928286	-	C	73928285	7	5	20	1	0	1	1	0	0	0	0	0	10180	739	26	0	539	0	NAT8B	2	73928285	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	166227	73928285	169271088	234	17905											
ACTG2	72	broad.mit.edu	37	chr2	74140773	74140773	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctattcctttgtgaccacaGgtatccagccccttttctga	7	13	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:74140773G>T	uc002sjw.2	+	6	735	c.613G>T	c.(613-615)GCT>TCT	p.A205S	ACTG2_uc010fey.2_Missense_Mutation_p.A205S|ACTG2_uc010yrn.1_Missense_Mutation_p.A162S	NM_001615	NP_001606	P63267	ACTH_HUMAN	actin, gamma 2 propeptide	205					muscle contraction	cytoskeleton|cytosol	ATP binding				0						TGTGACCACAGGTATCCAGCC	0.512													T	74140773	G	T	74140773	3	4	20	1	0	0	0	0	1	0	0	0	197	1014	35	5	631	5	ACTG2	2	74140773	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	212488	74140773	169058600	235	17906											
HTRA2	27429	broad.mit.edu	37	chr2	74758134	74758134	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttgcactgcagaacacgAtcacatccggcattgttagc	8	13	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:74758134A>G	uc002smi.1	+	3	1410	c.808A>G	c.(808-810)ATC>GTC	p.I270V	AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Intron|HTRA2_uc002smk.1_Missense_Mutation_p.I270V|HTRA2_uc002sml.1_Missense_Mutation_p.I270V|HTRA2_uc002smm.1_Missense_Mutation_p.I11V|HTRA2_uc002smn.1_Missense_Mutation_p.I11V|HTRA2_uc010ffl.2_Missense_Mutation_p.I11V	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	270	Serine protease.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1						GCAGAACACGATCACATCCGG	0.542													G	74758134	A	G	74758134	3	3	20	1	0	0	0	0	1	0	0	0	7454	333	12	3	818	3	HTRA2	2	74758134	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	617361	74758134	168441239	236	17907											
DOK1	1796	broad.mit.edu	37	chr2	74781910	74781911	+	Frame_Shift_Ins	INS	-	-	T													gcagtgatggaagggccgctINSttttttgcagagtcagcgct							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:74781909_74781910C>CT	uc002sms.3	+	0	398_399	c.28_29C>CT	c.(28-30)cttfs	p.L10fs	LOXL3_uc010ffm.1_5'Flank|LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.3_Intron|DOK1_uc010ffo.3_5'UTR|DOK1_uc002smt.3_5'UTR|DOK1_uc002smu.3_5'UTR|DOK1_uc010yrz.2_5'UTR|DOK1_uc002smw.1_5'Flank	NM_001381	NP_001184189	Q99704	DOK1_HUMAN	Homo sapiens docking protein 1, 62kDa (downstream of tyrosine kinase 1) (DOK1), transcript variant 1, mRNA.	10	PH.			MDGAVMEGPLFLQSQRFGTK -> RLPAQASATREREPRWS PFQ (in Ref. 3; AAB88182).	fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGAAGGGCCGCTTTTTTTGCAG	0.663													T	74781911	-	T	74781910	7	5	20	1	0	1	1	0	0	0	0	0	4696	1609	56	0	31	0	DOK1	2	74781910	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	23776	74781910	168417463	237	17908											
C2orf3	6936	broad.mit.edu	37	chr2	75917175	75917175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctgatggttacaattcCcagaaagcacccttgcttgt	7	12	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:75917175C>T	uc002sno.2	-	9	1389	c.1259G>A	c.(1258-1260)GGG>GAG	p.G420E	C2orf3_uc010ffs.2_5'UTR|C2orf3_uc002snn.2_Missense_Mutation_p.G251E|C2orf3_uc010fft.2_Missense_Mutation_p.G95E	NM_003203	NP_003194	P16383	GCF_HUMAN	hypothetical protein LOC6936	420					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						gttacaattcccagaaagcaC	0.134													T	75917175	C	T	75917175	3	4	20	1	0	0	0	0	1	0	0	0	2162	623	22	4	1122	4	C2orf3	2	75917175	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1135265	75917175	167282198	238	17909											
C2orf3	6936	broad.mit.edu	37	chr2	75921541	75921541	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagcggtgagtttcctgTagtaatgttaatctaaataa	10	4	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:75921541T>C	uc002sno.2	-	6	976	c.846A>G	c.(844-846)CTA>CTG	p.L282L	C2orf3_uc010ffs.2_5'UTR|C2orf3_uc002snn.2_Silent_p.L113L|C2orf3_uc010fft.2_5'UTR	NM_003203	NP_003194	P16383	GCF_HUMAN	hypothetical protein LOC6936	282	Potential.				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						GAGTTTCCTGTAGTAATGTTA	0.308													C	75921541	T	C	75921541	2	2	20	1	0	0	0	0	0	0	0	1	2162	1625	57	3		3	C2orf3	2	75921541	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	4366	75921541	167277832	239	17910											
CTNNA2	1496	broad.mit.edu	37	chr2	80085151	80085151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttccaggtgagacgatgcGgatcgcctcctccgagtttg	12	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:80085151G>A	uc010ysh.1	+	3	316	c.311G>A	c.(310-312)CGG>CAG	p.R104Q	CTNNA2_uc010yse.1_Missense_Mutation_p.R104Q|CTNNA2_uc010ysf.1_Missense_Mutation_p.R104Q|CTNNA2_uc010ysg.1_Missense_Mutation_p.R104Q	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	104					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						GAGACGATGCGGATCGCCTCC	0.562													A	80085151	G	A	80085151	3	1	20	1	0	0	0	0	1	0	0	0	4013	1116	39	1	321	1	CTNNA2	2	80085151	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	4163610	80085151	163114222	240	17911											
SUCLG1	8802	broad.mit.edu	37	chr2	84658722	84658722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccttctgtggcagaatcGttcaaaaagatttcgaggca	10	8	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:84658722G>A	uc002son.2	-	7	928	c.735C>T	c.(733-735)AAC>AAT	p.N245N		NM_003849	NP_003840	P53597	SUCA_HUMAN	succinate-CoA ligase, GDP-forming alpha subunit	245					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity				0					Succinic acid(DB00139)	TGGCAGAATCGTTCAAAAAGA	0.353													A	84658722	G	A	84658722	2	1	20	1	0	0	0	0	0	0	0	1	15363	1136	40	1		1	SUCLG1	2	84658722	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	4573571	84658722	158540651	241	17912											
MRPL35	51318	broad.mit.edu	37	chr2	86433347	86433347	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catattcagacaccagttgtTtcctccactcccagacttac	4	15	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:86433347T>C	uc002srg.3	+	2	220	c.162T>C	c.(160-162)GTT>GTC	p.V54V	MRPL35_uc002srf.3_Silent_p.V54V	NM_016622	NP_057706	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35 isoform a	54					translation	mitochondrial ribosome	structural constituent of ribosome				0						CACCAGTTGTTTCCTCCACTC	0.418													C	86433347	T	C	86433347	2	2	20	1	0	0	0	0	0	0	0	1	9798	1828	64	3		3	MRPL35	2	86433347	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1774625	86433347	156766026	242	17913											
RMND5A	64795	broad.mit.edu	37	chr2	87000484	87000484	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttagattaaaatgtcccTactgtccaatggaacaaagt	6	8	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:87000484T>C	uc010ytm.1	+	9	1503	c.1126T>C	c.(1126-1128)TAC>CAC	p.Y376H	RMND5A_uc002srs.3_Intron|RMND5A_uc002srr.2_Missense_Mutation_p.Y376H	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog	376										ovary(1)|skin(1)	2						AAAATGTCCCTACTGTCCAAT	0.353													C	87000484	T	C	87000484	3	2	20	1	0	0	0	0	1	0	0	0	13397	1522	53	3	1160	3	RMND5A	2	87000484	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	567137	87000484	156198889	243	17914											
CD8A	925	broad.mit.edu	37	chr2	87017507	87017507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatggagttgctcagggccGagcagaaatagtagccctcg	14	9	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:87017507G>A	uc002srt.2	-	2	1236	c.347C>T	c.(346-348)TCG>TTG	p.S116L	RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.S116L|CD8A_uc010ytn.1_Missense_Mutation_p.S157L|CD8A_uc002sru.2_Missense_Mutation_p.S116L	NM_001768	NP_001759	P01732	CD8A_HUMAN	CD8 antigen alpha polypeptide isoform 1	116	Ig-like V-type.|Extracellular (Potential).				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			ovary(1)	1						GCTCAGGGCCGAGCAGAAATA	0.652													A	87017507	G	A	87017507	3	1	20	1	0	0	0	0	1	0	0	0	3044	1059	37	1	380	1	CD8A	2	87017507	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	17023	87017507	156181866	244	17915											
SMYD1	150572	broad.mit.edu	37	chr2	88409944	88409944	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgtactacaagatgcgCgaggctgccctgaacaacca	9	12	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:88409944C>A	uc002ssr.2	+	10	1388	c.1386C>A	c.(1384-1386)CGC>CGA	p.R462R	SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Silent_p.R158R	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						ACAAGATGCGCGAGGCTGCCC	0.567													A	88409944	C	A	88409944	2	1	20	1	0	0	0	0	0	0	0	1	14821	755	27	5		5	SMYD1	2	88409944	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1392437	88409944	154789429	245	17916											
EIF2AK3	9451	broad.mit.edu	37	chr2	88857427	88857427	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggtcgttccatgggggatgGagagagcatgtcttgaacca	15	7	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:88857427G>T	uc002stc.3	-	17	3380	c.3178C>A	c.(3178-3180)CCA>ACA	p.P1060T		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	1060	Cytoplasmic (Potential).|Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ATGGGGGATGGAGAGAGCATG	0.403													T	88857427	G	T	88857427	3	4	20	1	0	0	0	0	1	0	0	0	4998	1174	41	5	176	5	EIF2AK3	2	88857427	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	447483	88857427	154341946	246	17917											
ZAP70	7535	broad.mit.edu	37	chr2	98351887	98351887	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatggagatggctgggggCgggccgctgcacaagttcct	17	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:98351887C>T	uc002syd.1	+	10	1464	c.1257C>T	c.(1255-1257)GGC>GGT	p.G419G	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Silent_p.G309G|ZAP70_uc002syf.1_Silent_p.G112G	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	419	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						TGGCTGGGGGCGGGCCGCTGC	0.682													T	98351887	C	T	98351887	2	4	20	1	0	0	0	0	0	0	0	1	17511	755	27	1		1	ZAP70	2	98351887	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	9494460	98351887	144847486	247	17918											
TSGA10	80705	broad.mit.edu	37	chr2	99688331	99688331	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacacaattagggcctcagtAcactgtctattccacaaatc	5	13	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:99688331A>G	uc002szg.3	-	12	1573	c.945T>C	c.(943-945)TGT>TGC	p.C315C	TSGA10_uc002szh.3_Silent_p.C315C|TSGA10_uc002szi.3_Silent_p.C315C|TSGA10_uc010fin.1_Silent_p.C315C|TSGA10_uc010yvn.1_Missense_Mutation_p.Y297H	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	315					spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2						GGGCCTCAGTACACTGTCTAT	0.418													G	99688331	A	G	99688331	2	3	20	1	0	0	0	0	0	0	0	1	16614	389	14	3		3	TSGA10	2	99688331	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1336444	99688331	143511042	248	17919											
EIF5B	9669	broad.mit.edu	37	chr2	99999352	99999352	+	Frame_Shift_Del	DEL	A	A	-													ctatcaaccttctcaaatctAaaaaatgtcccttcattgtt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:99999351_99999351TA>T	uc002tab.3	+	13	2422	c.2238_2238TA>T	c.(2236-2238)tctfs	p.S746fs		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	746					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTCTCAAATCTAAAAAATGTC	0.343													-	99999352	A	-	99999352	7	5	20	1	0	1	0	1	0	0	0	0	5044	363	13	0	2293	0	EIF5B	2	99999352	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	311021	99999352	143200021	249	17920											
NPAS2	4862	broad.mit.edu	37	chr2	101587538	101587538	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactcctcagcactaaaggTacgcccatccctgccagatg	7	17	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:101587538T>C	uc002tap.1	+	12	1426	c.1140_splice	c.e12+2	p.K380_splice	NPAS2_uc010yvt.1_Splice_Site_p.K445_splice	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2						central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4						GCACTAAAGGTACGCCCATCC	0.532													C	101587538	T	C	101587538	5	2	20	1	0	0	0	0	0	0	1	0	10563	1652	57	3	1184	3	NPAS2	2	101587538	Splice_Site	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1588186	101587538	141611835	250	17921											
NPAS2	4862	broad.mit.edu	37	chr2	101591353	101591353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccagtcattcgccatcggCgtcctcaagaagttcccaca	7	15	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:101591353C>T	uc002tap.1	+	13	1515	c.1229C>T	c.(1228-1230)GCG>GTG	p.A410V	NPAS2_uc010yvt.1_Missense_Mutation_p.A475V|NPAS2_uc010fit.1_5'UTR	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	410					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4						TCGCCATCGGCGTCCTCAAGA	0.557													T	101591353	C	T	101591353	3	4	20	1	0	0	0	0	1	0	0	0	10563	768	27	1	1275	1	NPAS2	2	101591353	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	3815	101591353	141608020	251	17922											
MAP4K4	9448	broad.mit.edu	37	chr2	102452432	102452433	+	Frame_Shift_Ins	INS	-	-	A													ctcctccccggctgaagtcaINSaaaaaatggtaagctatata							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:102452431_102452432C>CA	uc002tbc.3	+	8	1142_1143	c.764_765C>CA	c.(763-765)tcafs	p.S255fs	MAP4K4_uc002tbf.3_Frame_Shift_Ins_p.S255fs|MAP4K4_uc002tbd.3_Frame_Shift_Ins_p.S255fs|MAP4K4_uc010yvy.2_Frame_Shift_Ins_p.S255fs|MAP4K4_uc002tbh.3_Frame_Shift_Ins_p.S255fs|MAP4K4_uc002tbg.3_Frame_Shift_Ins_p.S255fs|MAP4K4_uc002tbi.3_Intron|MAP4K4_uc010yvz.2_Frame_Shift_Ins_p.S235fs|MAP4K4_uc010fiw.1_Frame_Shift_Ins_p.S97fs|MAP4K4_uc002tbj.1_Frame_Shift_Ins_p.S151fs	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	255	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CGGCTGAAGTCAAAAAAATGGT	0.416													A	102452433	-	A	102452432	7	5	20	1	0	1	1	0	0	0	0	0	9262	117	5	0	799	0	MAP4K4	2	102452432	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	861079	102452432	140746941	252	17923											
MRPS9	64965	broad.mit.edu	37	chr2	105709992	105709992	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttatatttttgaaggtaaAagaaagactgcaaaagcaga	8	3	0	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:105709992A>C	uc002tcn.3	+	9	893	c.825A>C	c.(823-825)AAA>AAC	p.K275N		NM_182640	NP_872578	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9 precursor	275					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0						TTGAAGGTAAAAGAAAGACTG	0.318													C	105709992	A	C	105709992	3	2	20	1	0	0	0	0	1	0	0	0	9849	11	1	5	859	5	MRPS9	2	105709992	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	3257560	105709992	137489381	253	17924											
GCC2	9648	broad.mit.edu	37	chr2	109087884	109087884	+	Frame_Shift_Del	DEL	A	A	-													aaacaataaactcagttcagAaaaaaaacagttgagtaggg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:109087883_109087883GA>G	uc002tec.3	+	5	2252	c.2098_2098GA>G	c.(2098-2100)gaafs	p.E700fs	GCC2_uc002ted.3_Frame_Shift_Del_p.E599fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	700					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACA	0.308													-	109087884	A	-	109087884	7	5	20	1	0	1	0	1	0	0	0	0	6286	246	9	0	2121	0	GCC2	2	109087884	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	3377892	109087884	134111489	254	17925											
MALL	7851	broad.mit.edu	37	chr2	110849314	110849314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtatactatgtgggtggCggctaccatggtccagacca	15	9	0	1	rs141817647		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:110849314C>T	uc002tfk.2	-	2	913	c.139G>A	c.(139-141)GCC>ACC	p.A47T	MALL_uc010fju.2_Intron	NM_005434	NP_005425	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	47	MARVEL.				cholesterol homeostasis	clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane	protein binding			ovary(1)|skin(1)	2				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		ATGTGGGTGGCGGCTACCATG	0.468													T	110849314	C	T	110849314	3	4	20	1	0	0	0	0	1	0	0	0	9201	768	27	1	334	1	MALL	2	110849314	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1761430	110849314	132350059	255	17926											
MERTK	10461	broad.mit.edu	37	chr2	112779029	112779029	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatgactgtctgtgttgcGgacttcggcctctctaagaa	11	10	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:112779029G>A	uc002thk.1	+	17	2342	c.2220G>A	c.(2218-2220)GCG>GCA	p.A740A	MERTK_uc002thl.1_Silent_p.A564A	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	740	Protein kinase.|Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						TCTGTGTTGCGGACTTCGGCC	0.478													A	112779029	G	A	112779029	2	1	20	1	0	0	0	0	0	0	0	1	9479	1103	39	1		1	MERTK	2	112779029	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1929715	112779029	130420344	256	17927											
IL1F10	84639	broad.mit.edu	37	chr2	113831989	113831989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgcagacaactgctgtgCaggtgagcttctggggcctc	14	10	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:113831989C>T	uc002tiu.2	+	3	191	c.116C>T	c.(115-117)GCA>GTA	p.A39V	IL1F10_uc002tiv.2_Missense_Mutation_p.A39V|IL1F10_uc002tiw.2_5'Flank	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10	39						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			ovary(1)	1						AACTGCTGTGCAGGTGAGCTT	0.552													T	113831989	C	T	113831989	3	4	20	1	0	0	0	0	1	0	0	0	7652	710	25	2	122	2	IL1F10	2	113831989	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1052960	113831989	129367384	257	17928											
STEAP3	55240	broad.mit.edu	37	chr2	120012379	120012379	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccgtgacctcactgccGtccattgcaaactcgctcaa	8	16	2	1	rs144510346		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:120012379G>A	uc002tlp.2	+	5	1297	c.1140G>A	c.(1138-1140)CCG>CCA	p.P380P	STEAP3_uc002tlq.2_Silent_p.P390P|STEAP3_uc002tlr.2_Silent_p.P380P|STEAP3_uc010fle.2_Silent_p.P380P	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	380	Ferric oxidoreductase.|Cytoplasmic (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			central_nervous_system(2)|skin(1)	3						CCTCACTGCCGTCCATTGCAA	0.612													A	120012379	G	A	120012379	2	1	20	1	0	0	0	0	0	0	0	1	15278	1132	40	1		1	STEAP3	2	120012379	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	6180390	120012379	123186994	258	17929											
ERCC3	2071	broad.mit.edu	37	chr2	128030479	128030479	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttaattttggggttgtgctTgaaattctggagaatttgca	12	3	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:128030479T>A	uc002toh.1	-	11	1884	c.1789A>T	c.(1789-1791)AAG>TAG	p.K597*	ERCC3_uc002toe.1_Nonsense_Mutation_p.K352*|ERCC3_uc002tof.1_Nonsense_Mutation_p.K533*|ERCC3_uc002tog.1_Nonsense_Mutation_p.K533*	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	597	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GGGTTGTGCTTGAAATTCTGG	0.488			Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				A	128030479	T	A	128030479	4	1	20	1	0	0	0	0	0	1	0	0	5214	1821	63	5	579	5	ERCC3	2	128030479	Nonsense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	8018100	128030479	115168894	259	17930											
WDR33	55339	broad.mit.edu	37	chr2	128480887	128480887	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagattatatcgatctcgcaTtttatcacctggtcggtttc	7	9	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:128480887T>C	uc002tpg.1	-	12	1414	c.1231A>G	c.(1231-1233)ATG>GTG	p.M411V		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	411	WD 7.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CGATCTCGCATTTTATCACCT	0.373													C	128480887	T	C	128480887	3	2	20	1	0	0	0	0	1	0	0	0	17284	1493	52	3	2823	3	WDR33	2	128480887	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	450408	128480887	114718486	260	17931											
SAP130	79595	broad.mit.edu	37	chr2	128699613	128699614	+	Frame_Shift_Ins	INS	-	-	T													ttcgcttcaatttggacactINStttttgacagtcccgttctt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:128699612_128699613C>CT	uc010fmd.2	-	20	3351_3352	c.3219_3220G>AG	c.(3217-3222)aaagtgfs	p.K1073fs	SAP130_uc002tpn.2_Frame_Shift_Ins_p.K798fs|SAP130_uc002tpp.2_Frame_Shift_Ins_p.K1038fs	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	1038					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AATTTGGACACTTTTTTGACAG	0.431													T	128699614	-	T	128699613	7	5	20	1	0	1	1	0	0	0	0	0	13831	1606	56	0	36	0	SAP130	2	128699613	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	218726	128699613	114499760	261	17932											
SAP130	79595	broad.mit.edu	37	chr2	128707456	128707456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactaacctttgacccggacGtcactgtacctctgaaagtg	8	12	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:128707456G>A	uc002tpp.2	-	17	2889	c.2757C>T	c.(2755-2757)GAC>GAT	p.D919D	SAP130_uc002tpn.2_Silent_p.D679D|SAP130_uc002tpo.2_Silent_p.D699D|SAP130_uc010fmd.2_Silent_p.D954D	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	919	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGACCCGGACGTCACTGTACC	0.423													A	128707456	G	A	128707456	2	1	20	1	0	0	0	0	0	0	0	1	13831	1136	40	1		1	SAP130	2	128707456	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	7843	128707456	114491917	262	17933											
SAP130	79595	broad.mit.edu	37	chr2	128707900	128707900	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggggaggcaccaggtggTaggtcacttgtaggcatgga	17	7	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:128707900T>C	uc002tpp.2	-	16	2610	c.2478A>G	c.(2476-2478)CTA>CTG	p.L826L	SAP130_uc002tpn.2_Silent_p.L586L|SAP130_uc002tpo.2_Silent_p.L606L|SAP130_uc010fmd.2_Silent_p.L861L	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	826	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CACCAGGTGGTAGGTCACTTG	0.488													C	128707900	T	C	128707900	2	2	20	1	0	0	0	0	0	0	0	1	13831	1625	57	3		3	SAP130	2	128707900	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	444	128707900	114491473	263	17934											
CCDC74A	90557	broad.mit.edu	37	chr2	132285715	132285715	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacctggagaaaagcctgCagttcctgcagcagcagcac	12	12	0	1	rs146378866		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:132285715C>T	uc002tta.2	+	1	224	c.172C>T	c.(172-174)CAG>TAG	p.Q58*	CCDC74A_uc010fnb.1_Nonsense_Mutation_p.Q58*|CCDC74A_uc002ttb.2_Nonsense_Mutation_p.Q58*	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	58	Potential.									skin(1)	1						GAAAAGCCTGCAGTTCCTGCA	0.647													T	132285715	C	T	132285715	4	4	20	1	0	0	0	0	0	1	0	0	2847	711	25	2	174	2	CCDC74A	2	132285715	Nonsense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	3577815	132285715	110913658	264	17935											
NCKAP5	344148	broad.mit.edu	37	chr2	133531439	133531439	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caactgcatcgtcttcatccTcttgcaagttttcatttgcc	5	13	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:133531439T>A	uc002ttp.2	-	16	5452	c.5078A>T	c.(5077-5079)GAG>GTG	p.E1693V	NCKAP5_uc002ttq.2_Missense_Mutation_p.E374V	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1693							protein binding				0						GTCTTCATCCTCTTGCAAGTT	0.333													A	133531439	T	A	133531439	3	1	20	1	0	0	0	0	1	0	0	0	10223	1551	54	5	671	5	NCKAP5	2	133531439	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1245724	133531439	109667934	265	17936											
NCKAP5	344148	broad.mit.edu	37	chr2	133542288	133542288	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgggtccagcaggagttgaaTtgatggaaatctcatttctg	12	6	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:133542288T>A	uc002ttp.2	-	14	2470	c.2096A>T	c.(2095-2097)AAT>ATT	p.N699I	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	699							protein binding				0						AGGAGTTGAATTGATGGAAAT	0.453													A	133542288	T	A	133542288	3	1	20	1	0	0	0	0	1	0	0	0	10223	1493	52	5	3661	5	NCKAP5	2	133542288	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	10849	133542288	109657085	266	17937											
MGAT5	4249	broad.mit.edu	37	chr2	135012020	135012020	+	Frame_Shift_Del	DEL	T	T	-													tgtcctctcagaagctgggcTttttcctggtgacttttggc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:135012020delT	uc002ttv.1	+	1	191	c.46delT	c.(46-48)TTTfs	p.F16fs		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	16	Helical; Signal-anchor for type II membrane protein; (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GAAGCTGGGCTTTTTCCTGGT	0.512													-	135012020	T	-	135012020	7	5	20	1	0	1	0	1	0	0	0	0	9548	1609	56	0	48	0	MGAT5	2	135012020	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	1469732	135012020	108187353	267	17938											
R3HDM1	23518	broad.mit.edu	37	chr2	136393667	136393667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttctgtagatgagaataCgtttgaaagatgacagaaga	10	4	1	7			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:136393667C>T	uc002tuo.2	+	11	1187	c.817C>T	c.(817-819)CGT>TGT	p.R273C	R3HDM1_uc010fni.2_Missense_Mutation_p.R271C|R3HDM1_uc002tup.2_Missense_Mutation_p.R217C|R3HDM1_uc010zbh.1_Missense_Mutation_p.R105C	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	273							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		GATGAGAATACGTTTGAAAGA	0.353													T	136393667	C	T	136393667	3	4	20	1	0	0	0	0	1	0	0	0	12887	536	19	1	851	1	R3HDM1	2	136393667	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1381647	136393667	106805706	268	17939											
THSD7B	80731	broad.mit.edu	37	chr2	138378192	138378192	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagcataatttggagaAgccccagagaatgagcattc	10	8	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:138378192A>C	uc002tva.1	+	19	3608	c.3608A>C	c.(3607-3609)AAG>ACG	p.K1203T	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATTTGGAGAAGCCCCAGAGA	0.458													C	138378192	A	C	138378192	3	2	20	1	0	0	0	0	1	0	0	0	15877	72	3	5	3681	5	THSD7B	2	138378192	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1984525	138378192	104821181	269	17940											
ZEB2	9839	broad.mit.edu	37	chr2	145147143	145147143	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtatcgtttcgggatccgTatccatacttttattttcac	6	10	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:145147143T>C	uc002tvu.2	-	10	4000	c.3520A>G	c.(3520-3522)ACG>GCG	p.T1174A	ZEB2_uc002tvv.2_Missense_Mutation_p.T1168A|ZEB2_uc010zbm.1_Missense_Mutation_p.T1145A|ZEB2_uc010fnp.2_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	1174	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCGGGATCCGTATCCATACTT	0.498													C	145147143	T	C	145147143	3	2	20	1	0	0	0	0	1	0	0	0	17621	1638	57	3	128	3	ZEB2	2	145147143	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	6768951	145147143	98052230	270	17941											
ZEB2	9839	broad.mit.edu	37	chr2	145157490	145157490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcctaaagggctggtggCtccaagcccaccattcataa	8	13	1	0	rs141793065	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:145157490C>T	uc002tvu.2	-	8	1744	c.1264G>A	c.(1264-1266)GCC>ACC	p.A422T	ZEB2_uc002tvv.2_Missense_Mutation_p.A416T|ZEB2_uc010zbm.1_Missense_Mutation_p.A393T|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.A451T	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	422						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGGCTGGTGGCTCCAAGCCCA	0.453													T	145157490	C	T	145157490	3	4	20	1	0	0	0	0	1	0	0	0	17621	797	28	2	2392	2	ZEB2	2	145157490	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	10347	145157490	98041883	271	17942											
RIF1	55183	broad.mit.edu	37	chr2	152321163	152321164	+	Frame_Shift_Ins	INS	-	-	A													gatatttcttcgctttcagaINSaaaaacttttcaaacacttg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:152321162_152321163G>GA	uc002txm.3	+	29	5289_5290	c.5128_5129G>GA	c.(5128-5130)gaafs	p.E1710fs	RIF1_uc002txn.3_Frame_Shift_Ins_p.E1710fs|RIF1_uc002txl.3_Frame_Shift_Ins_p.E1710fs|RIF1_uc002txo.3_Frame_Shift_Ins_p.E1710fs|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	1710					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTCGCTTTCAGAAAAAACTTTT	0.371													A	152321164	-	A	152321163	7	5	20	1	0	1	1	0	0	0	0	0	13359	246	9	0	5243	0	RIF1	2	152321163	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	7163673	152321163	90878210	272	17943											
NEB	4703	broad.mit.edu	37	chr2	152410392	152410392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgatcattgacttgcaagtCggggtggcaaatccattcgt	12	8	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:152410392C>T	uc010fnx.2	-	98	14664	c.14473G>A	c.(14473-14475)GAC>AAC	p.D4825N	NEB_uc002txr.2_Missense_Mutation_p.D1248N	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	4825	Nebulin 132.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACTTGCAAGTCGGGGTGGCAA	0.547													T	152410392	C	T	152410392	3	4	20	1	0	0	0	0	1	0	0	0	10302	884	31	1	6338	1	NEB	2	152410392	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	89229	152410392	90788981	273	17944											
STAM2	10254	broad.mit.edu	37	chr2	153004561	153004561	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atttttaatcacagcacgtaCttctgttgcaaaatcacggg	7	9	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:153004561C>G	uc002tyc.3	-	4	627	c.277G>C	c.(277-279)GTA>CTA	p.V93L	STAM2_uc010foa.1_Missense_Mutation_p.V93L|STAM2_uc002tyd.2_Missense_Mutation_p.V93L	NM_005843	NP_005834	O75886	STAM2_HUMAN	signal transducing adaptor molecule 2	93	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.22)		ACAGCACGTACTTCTGTTGCA	0.294													G	153004561	C	G	153004561	3	3	20	1	0	0	0	0	1	0	0	0	15248	565	20	5	1344	5	STAM2	2	153004561	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	594169	153004561	90194812	274	17945											
NR4A2	4929	broad.mit.edu	37	chr2	157182788	157182788	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccacgaacgcattgcaaccTgtgcaagaccaccccattgc	8	16	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:157182788T>A	uc002tyz.3	-	7	1836	c.1414A>T	c.(1414-1416)AGG>TGG	p.R472W	NR4A2_uc002tyx.3_Missense_Mutation_p.R409W|NR4A2_uc010zcf.1_Missense_Mutation_p.R472W|NR4A2_uc010zcg.1_Intron	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	472					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						CATTGCAACCTGTGCAAGACC	0.453													A	157182788	T	A	157182788	3	1	20	1	0	0	0	0	1	0	0	0	10633	1579	55	5	390	5	NR4A2	2	157182788	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	4178227	157182788	86016585	275	17946											
GALNT5	11227	broad.mit.edu	37	chr2	158115241	158115241	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actagcagctgaaagggactTgaatgtgaccatcagtctta	10	8	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:158115241T>C	uc002tzg.2	+	1	902	c.647T>C	c.(646-648)TTG>TCG	p.L216S	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	216	Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4						GAAAGGGACTTGAATGTGACC	0.493													C	158115241	T	C	158115241	3	2	20	1	0	0	0	0	1	0	0	0	6216	1821	63	3	649	3	GALNT5	2	158115241	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	932453	158115241	85084132	276	17947											
GALNT5	11227	broad.mit.edu	37	chr2	158152294	158152294	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccagtaatcgaagtcatcAatgataaggatatgaggtaa	10	5	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:158152294A>G	uc002tzg.2	+	4	2116	c.1861A>G	c.(1861-1863)AAT>GAT	p.N621D	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	621	Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4						CGAAGTCATCAATGATAAGGA	0.368													G	158152294	A	G	158152294	3	3	20	1	0	0	0	0	1	0	0	0	6216	130	5	3	1875	3	GALNT5	2	158152294	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	37053	158152294	85047079	277	17948											
TANC1	85461	broad.mit.edu	37	chr2	160086950	160086950	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctggttctccatccagCagcataaagatgtcaagttc	7	11	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:160086950C>T	uc002uag.2	+	27	5287	c.5013C>T	c.(5011-5013)AGC>AGT	p.S1671S	TANC1_uc010zcm.1_3'UTR|TANC1_uc010fon.2_Silent_p.S515S	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1671	Ser-rich.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						CTCCATCCAGCAGCATAAAGA	0.527													T	160086950	C	T	160086950	2	4	20	1	0	0	0	0	0	0	0	1	15541	709	25	2		2	TANC1	2	160086950	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1934656	160086950	83112423	278	17949											
BAZ2B	29994	broad.mit.edu	37	chr2	160295518	160295518	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccatgaaaaaaattatAcctggttgttacttttatgt	6	6	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:160295518A>G	uc002uao.2	-	7	1252	c.900_splice	c.e7+1	p.Q300_splice	BAZ2B_uc002uap.2_Splice_Site_p.Q298_splice|BAZ2B_uc002uas.1_Splice_Site_p.Q237_splice|BAZ2B_uc002uau.1_Splice_Site_p.Q298_splice|BAZ2B_uc002uaq.1_Splice_Site_p.Q228_splice|BAZ2B_uc002uat.3_Missense_Mutation_p.V238A|BAZ2B_uc010fop.1_Splice_Site_p.Q298_splice	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						AAAAAATTATACCTGGTTGTT	0.264													G	160295518	A	G	160295518	5	3	20	1	0	0	0	0	0	0	1	0	1332	405	14	3	5728	3	BAZ2B	2	160295518	Splice_Site	SNP	A	TCGA-BR-4362-01A-01D-1158-08	208568	160295518	82903855	279	17950											
SLC4A10	57282	broad.mit.edu	37	chr2	162719492	162719492	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcagaatcagaaaaaacTcaccaacaggattcccattg	5	11	4	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:162719492T>G	uc002ubx.3	+	6	870	c.686T>G	c.(685-687)CTC>CGC	p.L229R	SLC4A10_uc010fpa.1_Missense_Mutation_p.L241R|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.L229R|SLC4A10_uc010zcs.1_Missense_Mutation_p.L240R	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	229	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						CAGAAAAAACTCACCAACAGG	0.403													G	162719492	T	G	162719492	3	3	20	1	0	0	0	0	1	0	0	0	14651	1551	54	5	793	5	SLC4A10	2	162719492	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2423974	162719492	80479881	280	17951											
SCN3A	6328	broad.mit.edu	37	chr2	165984367	165984367	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattaagctctttgcttattTcaattccagtattattggac	5	7	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:165984367T>C	uc002ucx.2	-	18	3659	c.3167A>G	c.(3166-3168)GAA>GGA	p.E1056G	SCN3A_uc002ucy.2_Missense_Mutation_p.E1007G|SCN3A_uc002ucz.2_Missense_Mutation_p.E1007G|SCN3A_uc002uda.1_Missense_Mutation_p.E876G|SCN3A_uc002udb.1_Missense_Mutation_p.E876G	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1056						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	TTTGCTTATTTCAATTCCAGT	0.368													C	165984367	T	C	165984367	3	2	20	1	0	0	0	0	1	0	0	0	13918	1783	62	3	2879	3	SCN3A	2	165984367	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3264875	165984367	77215006	281	17952											
XIRP2	129446	broad.mit.edu	37	chr2	168100923	168100923	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagacagtccagcaagaAgaaatcgtaagaggtgatgt	12	5	0	5			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:168100923A>C	uc002udx.2	+	8	3039	c.3021A>C	c.(3019-3021)GAA>GAC	p.E1007D	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E832D|XIRP2_uc010fpq.2_Missense_Mutation_p.E785D|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	832					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TCCAGCAAGAAGAAATCGTAA	0.378													C	168100923	A	C	168100923	3	2	20	1	0	0	0	0	1	0	0	0	17427	69	3	5	3051	5	XIRP2	2	168100923	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2116556	168100923	75098450	282	17953											
GORASP2	26003	broad.mit.edu	37	chr2	171806085	171806085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttaaggatctgctgaaaGcaaacgttgaaaagcctgta	9	8	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:171806085G>A	uc002ugk.2	+	3	321	c.181G>A	c.(181-183)GCA>ACA	p.A61T	GORASP2_uc002ugj.2_5'UTR|GORASP2_uc010zdl.1_Missense_Mutation_p.A73T|GORASP2_uc010zdm.1_Missense_Mutation_p.A17T|GORASP2_uc002ugl.2_5'UTR	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2	61	PDZ.					Golgi membrane				breast(1)|central_nervous_system(1)	2						TCTGCTGAAAGCAAACGTTGA	0.398													A	171806085	G	A	171806085	3	1	20	1	0	0	0	0	1	0	0	0	6576	971	34	2	191	2	GORASP2	2	171806085	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3705162	171806085	71393288	283	17954											
DLX1	1745	broad.mit.edu	37	chr2	172952935	172952935	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatccccagctacacatcgTggtacccttcagcgcaccaa	6	16	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:172952935T>C	uc002uhl.2	+	3	916	c.718T>C	c.(718-720)TGG>CGG	p.W240R	DLX1_uc002uhm.2_3'UTR	NM_178120	NP_835221	P56177	DLX1_HUMAN	distal-less homeobox 1 isoform 1	240						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CTACACATCGTGGTACCCTTC	0.632													C	172952935	T	C	172952935	3	2	20	1	0	0	0	0	1	0	0	0	4570	1696	59	3	728	3	DLX1	2	172952935	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1146850	172952935	70246438	284	17955											
CHRNA1	1134	broad.mit.edu	37	chr2	175613330	175613330	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttagactcctggtctgacTtcatggtctctgcgatgtac	10	10	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:175613330T>G	uc002ujd.2	-	9	1373	c.1295A>C	c.(1294-1296)AAG>ACG	p.K432T	uc002uiw.2_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.K407T	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	nicotinic cholinergic receptor alpha 1 isoform a	432	Cytoplasmic.				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(2)|central_nervous_system(1)|skin(1)	4						CTGGTCTGACTTCATGGTCTC	0.378											OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	175613330	T	G	175613330	3	3	20	1	0	0	0	0	1	0	0	0	3381	1609	56	5	161	5	CHRNA1	2	175613330	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2660395	175613330	67586043	285	17956											
HOXD13	3239	broad.mit.edu	37	chr2	176957879	176957879	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgcacgggctcttcctcGtcgtcgtcctcttctgccgt	11	16	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:176957879G>A	uc002ukf.1	+	1	348	c.261G>A	c.(259-261)TCG>TCA	p.S87S		NM_000523	NP_000514	P35453	HXD13_HUMAN	homeobox D13	87	Poly-Ser.				skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		GCTCTTCCTCGTCGTCGTCCT	0.567			T	NUP98	AML*								A	176957879	G	A	176957879	2	1	20	1	0	0	0	0	0	0	0	1	7322	1132	40	1		1	HOXD13	2	176957879	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1344549	176957879	66241494	286	17957											
TTC30B	150737	broad.mit.edu	37	chr2	178415909	178415909	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcataagagagctgctctTcctccttttcaatcttcctc	4	14	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:178415909T>C	uc002uln.2	-	1	1616	c.1583A>G	c.(1582-1584)GAA>GGA	p.E528G	TTC30B_uc010zfc.1_Missense_Mutation_p.E300G	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	528	Potential.				cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GAGCTGCTCTTCCTCCTTTTC	0.378													C	178415909	T	C	178415909	3	2	20	1	0	0	0	0	1	0	0	0	16696	1783	62	3	418	3	TTC30B	2	178415909	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1458030	178415909	64783464	287	17958											
PDE11A	50940	broad.mit.edu	37	chr2	178494204	178494204	+	Frame_Shift_Del	DEL	T	T	-													gcagttgaggccagcagtcgTttttggtgtagctcttccca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:178494203_178494203GT>G	uc002ulq.3	-	19	3052	c.2734_2734AC>C	c.(2734-2736)cgafs	p.R912fs	PDE11A_uc002ulp.3_Frame_Shift_Del_p.R468fs|PDE11A_uc002ulr.3_Frame_Shift_Del_p.R662fs|PDE11A_uc010zfd.2_Frame_Shift_Del_p.R103fs|PDE11A_uc002uls.1_Frame_Shift_Del_p.R554fs|PDE11A_uc002ult.1_Frame_Shift_Del_p.R662fs|PDE11A_uc002ulu.1_Frame_Shift_Del_p.R554fs	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	912					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.R912Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GCCAGCAGTCGTTTTTGGTGT	0.483									Primary Pigmented Nodular Adrenocortical Disease, Familial				-	178494204	T	-	178494204	7	5	20	1	0	1	0	1	0	0	0	0	11631	1722	60	0	72	0	PDE11A	2	178494204	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	78295	178494204	64705169	288	17959											
RBM45	129831	broad.mit.edu	37	chr2	178985972	178985972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggaagcaatctccaaaCgcttgtcagttgtatcaaga	9	10	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:178985972C>T	uc002ulv.2	+	5	831	c.739C>T	c.(739-741)CGC>TGC	p.R247C		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	249					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			AATCTCCAAACGCTTGTCAGT	0.358													T	178985972	C	T	178985972	3	4	20	1	0	0	0	0	1	0	0	0	13139	536	19	1	757	1	RBM45	2	178985972	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	491768	178985972	64213401	289	17960											
TTN	7273	broad.mit.edu	37	chr2	179396497	179396497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatggtaccctgtgcgagcGcattctcagtgtgattcgag	12	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:179396497G>A	uc010zfg.1	-	307	97365	c.97141C>T	c.(97141-97143)CGC>TGC	p.R32381C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R26076C|TTN_uc010zfi.1_Missense_Mutation_p.R26009C|TTN_uc010zfj.1_Missense_Mutation_p.R25884C|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33308							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTGCGAGCGCATTCTCAGT	0.443													A	179396497	G	A	179396497	3	1	20	1	0	0	0	0	1	0	0	0	16732	1087	38	1	3154	1	TTN	2	179396497	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	410525	179396497	63802876	290	17961											
TTN	7273	broad.mit.edu	37	chr2	179403902	179403902	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaccaccatcatctttgggCcgggaccaggacaagctaac	10	13	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:179403902C>T	uc010zfg.1	-	302	91280	c.91056G>A	c.(91054-91056)CGG>CGA	p.R30352R	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R24047R|TTN_uc010zfi.1_Silent_p.R23980R|TTN_uc010zfj.1_Silent_p.R23855R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31279							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCTTTGGGCCGGGACCAGG	0.473													T	179403902	C	T	179403902	2	4	20	1	0	0	0	0	0	0	0	1	16732	726	26	2		2	TTN	2	179403902	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	7405	179403902	63795471	291	17962											
TTN	7273	broad.mit.edu	37	chr2	179436451	179436451	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtttgtcaagaacgataAcattaagggtttcaatagct	9	6	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:179436451A>C	uc010zfg.1	-	275	66928	c.66704T>G	c.(66703-66705)GTT>GGT	p.V22235G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V15930G|TTN_uc010zfi.1_Missense_Mutation_p.V15863G|TTN_uc010zfj.1_Missense_Mutation_p.V15738G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23162							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGAACGATAACATTAAGGGT	0.438													C	179436451	A	C	179436451	3	2	20	1	0	0	0	0	1	0	0	0	16732	43	2	5	33719	5	TTN	2	179436451	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	32549	179436451	63762922	292	17963											
TTN	7273	broad.mit.edu	37	chr2	179436480	179436480	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttcaatagcttcaccagcTgagttagtcagtttaaccac	7	10	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:179436480T>C	uc010zfg.1	-	275	66899	c.66675A>G	c.(66673-66675)TCA>TCG	p.S22225S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S15920S|TTN_uc010zfi.1_Silent_p.S15853S|TTN_uc010zfj.1_Silent_p.S15728S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23152							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCACCAGCTGAGTTAGTCA	0.413													C	179436480	T	C	179436480	2	2	20	1	0	0	0	0	0	0	0	1	16732	1567	55	3		3	TTN	2	179436480	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	29	179436480	63762893	293	17964											
TTN	7273	broad.mit.edu	37	chr2	179462439	179462439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcattcatgttccaggtgaCggttggaggaggctttccag	13	8	2	1	rs142841000	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:179462439C>T	uc010zfg.1	-	243	49890	c.49666G>A	c.(49666-49668)GTC>ATC	p.V16556I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V10251I|TTN_uc010zfi.1_Missense_Mutation_p.V10184I|TTN_uc010zfj.1_Missense_Mutation_p.V10059I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17483							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAGGTGACGGTTGGAGGA	0.493													T	179462439	C	T	179462439	3	4	20	1	0	0	0	0	1	0	0	0	16732	536	19	1		1	TTN	2	179462439	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	25959	179462439	63736934	294	17965											
TTN	7273	broad.mit.edu	37	chr2	179484765	179484765	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttctaccccgcaagcaTattcacactcatcatccagc	4	16	5	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:179484765T>C	uc010zfg.1	-	198	38899	c.38675A>G	c.(38674-38676)TAT>TGT	p.Y12892C	TTN_uc010zfh.1_Missense_Mutation_p.Y6587C|TTN_uc010zfi.1_Missense_Mutation_p.Y6520C|TTN_uc010zfj.1_Missense_Mutation_p.Y6395C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13819							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCGCAAGCATATTCACACTC	0.333													C	179484765	T	C	179484765	3	2	20	1	0	0	0	0	1	0	0	0	16732	1406	49	3	61770	3	TTN	2	179484765	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	22326	179484765	63714608	295	17966											
TTN	7273	broad.mit.edu	37	chr2	179485466	179485466	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactattagattggctgcacTtttaacattttcacctctgt	5	9	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:179485466T>C	uc010zfg.1	-	196	38391	c.38167A>G	c.(38167-38169)AGT>GGT	p.S12723G	TTN_uc010zfh.1_Missense_Mutation_p.S6418G|TTN_uc010zfi.1_Missense_Mutation_p.S6351G|TTN_uc010zfj.1_Missense_Mutation_p.S6226G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13650							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGCTGCACTTTTAACATTT	0.313													C	179485466	T	C	179485466	3	2	20	1	0	0	0	0	1	0	0	0	16732	1609	56	3	62286	3	TTN	2	179485466	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	701	179485466	63713907	296	17967											
TTN	7273	broad.mit.edu	37	chr2	179579970	179579971	+	Frame_Shift_Ins	INS	-	-	T													tgtctctataggatgaggctINSttttgcggaaaatgggtggt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:179579969_179579970C>CT	uc021vsy.1	-	86	22436_22437	c.22211_22212G>AG	c.(22210-22212)aagfs	p.K7404fs	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Frame_Shift_Ins_p.K4065fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8331	Ig-like 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGATGAGGCTTTTTGCGGAA	0.391													T	179579971	-	T	179579970	7	5	20	1	0	1	1	0	0	0	0	0	16732	1609	56	0	78678	0	TTN	2	179579970	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	94504	179579970	63619403	297	17968											
TTN	7273	broad.mit.edu	37	chr2	179604130	179604130	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaacagtgtccactaaaggTgtatgtatcatggggccatc	11	8	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:179604130T>C	uc010zfh.1	-	46	13541	c.13317A>G	c.(13315-13317)ACA>ACG	p.T4439T	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.T4372T|TTN_uc010zfj.1_Silent_p.T4247T|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACTAAAGGTGTATGTATCA	0.423													C	179604130	T	C	179604130	2	2	20	1	0	0	0	0	0	0	0	1	16732	1683	59	3		3	TTN	2	179604130	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	24160	179604130	63595243	298	17969											
TTN	7273	broad.mit.edu	37	chr2	179640650	179640650	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgggtaattctttcagcccTtttcaacttcacaacttctt	4	11	5	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:179640650T>C	uc010zfg.1	-	28	6165	c.5941A>G	c.(5941-5943)AGG>GGG	p.R1981G	TTN_uc010zfh.1_Missense_Mutation_p.R1935G|TTN_uc010zfi.1_Missense_Mutation_p.R1935G|TTN_uc010zfj.1_Missense_Mutation_p.R1935G|TTN_uc002unb.2_Missense_Mutation_p.R1981G|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1981							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTCAGCCCTTTTCAACTTC	0.423													C	179640650	T	C	179640650	3	2	20	1	0	0	0	0	1	0	0	0	16732	1608	56	3	105387	3	TTN	2	179640650	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	36520	179640650	63558723	299	17970											
DNAJC10	54431	broad.mit.edu	37	chr2	183601076	183601076	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tactgcttattttcctcctgGagccactttaaataacaaag	5	10	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:183601076G>C	uc002uow.1	+	11	1365	c.950G>C	c.(949-951)GGA>GCA	p.G317A	DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Intron|DNAJC10_uc010fro.1_Intron	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	317					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			ovary(1)|large_intestine(1)|breast(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTTCCTCCTGGAGCCACTTTA	0.328													C	183601076	G	C	183601076	3	2	20	1	0	0	0	0	1	0	0	0	4629	1174	41	5	984	5	DNAJC10	2	183601076	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3960426	183601076	59598297	300	17971											
MFSD6	54842	broad.mit.edu	37	chr2	191362251	191362251	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggtacagcaacagacagaaGatgtcatgccacgcattgag	11	9	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:191362251G>A	uc002urz.2	+	7	2302	c.1978G>A	c.(1978-1980)GAT>AAT	p.D660N	MFSD6_uc010zge.1_Missense_Mutation_p.D122N	NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	660					transmembrane transport	integral to membrane				ovary(2)	2						ACAGACAGAAGATGTCATGCC	0.488													A	191362251	G	A	191362251	3	1	20	1	0	0	0	0	1	0	0	0	9535	942	33	4	1996	4	MFSD6	2	191362251	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	7761175	191362251	51837122	301	17972											
GLS	2744	broad.mit.edu	37	chr2	191819482	191819482	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggggtgggacggtataggTcatgttgaagttgttaaatt	16	2	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:191819482T>C	uc002usf.2	+	17	2055	c.1791T>C	c.(1789-1791)GGT>GGC	p.G597G	GLS_uc002ush.2_Silent_p.G258G|GLS_uc010zgi.1_Missense_Mutation_p.S200P|GLS_uc010zgj.1_Silent_p.G102G	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase precursor	597	ANK.				cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACGGTATAGGTCATGTTGAAG	0.373													C	191819482	T	C	191819482	2	2	20	1	0	0	0	0	0	0	0	1	6463	1681	58	3		3	GLS	2	191819482	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	457231	191819482	51379891	302	17973											
ANKRD44	91526	broad.mit.edu	37	chr2	197990131	197990131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgcccagtgcagagcaCgccggtccttcttgtcaaat	10	13	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:197990131C>T	uc002uuc.2	-	6	691	c.524G>A	c.(523-525)CGT>CAT	p.R175H	ANKRD44_uc002utz.3_5'Flank|ANKRD44_uc002uua.1_Missense_Mutation_p.R150H|ANKRD44_uc002uub.2_Missense_Mutation_p.R175H|ANKRD44_uc010zgw.1_Missense_Mutation_p.R103H	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	175	ANK 6.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTGCAGAGCACGCCGGTCCTT	0.423													T	197990131	C	T	197990131	3	4	20	1	0	0	0	0	1	0	0	0	672	536	19	1	2394	1	ANKRD44	2	197990131	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	6170649	197990131	45209242	303	17974											
SGOL2	151246	broad.mit.edu	37	chr2	201438699	201438699	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaacccaaaaatcaggaatAggtaggttaataaccattat	7	6	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:201438699A>G	uc002uvw.2	+	7	3743	c.3630A>G	c.(3628-3630)ATA>ATG	p.I1210M	SGOL2_uc010zhd.1_Missense_Mutation_p.I1210M|SGOL2_uc010zhe.1_Missense_Mutation_p.I1210M	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2 isoform 1	1210					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)|skin(2)	4						AATCAGGAATAGGTAGGTTAA	0.343													G	201438699	A	G	201438699	3	3	20	1	0	0	0	0	1	0	0	0	14217	434	15	3	3652	3	SGOL2	2	201438699	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	3448568	201438699	41760674	304	17975											
CASP8	841	broad.mit.edu	37	chr2	202151290	202151290	+	Frame_Shift_Del	DEL	A	A	-													cagcctactttcacactaagAaaaaaacttgtcttcccttc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:202151289_202151289GA>G	uc002uxr.1	+	9	1621	c.1412_1412GA>G	c.(1411-1413)agafs	p.R471fs	CASP8_uc002uxq.1_Frame_Shift_Del_p.R456fs|CASP8_uc002uxp.1_Frame_Shift_Del_p.R488fs|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Frame_Shift_Del_p.R530fs|CASP8_uc002uxw.1_Frame_Shift_Del_p.R456fs|CASP8_uc010ftf.2_Frame_Shift_Del_p.R387fs	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	471					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TTCACACTAAGAAAAAAACTT	0.398										HNSCC(4;0.00038)			-	202151290	A	-	202151290	7	5	20	1	0	1	0	1	0	0	0	0	2677	243	9	0	1724	0	CASP8	2	202151290	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	712591	202151290	41048083	305	17976											
NBEAL1	65065	broad.mit.edu	37	chr2	204037548	204037549	+	Frame_Shift_Ins	INS	-	-	A													accaattggggtagttaatgINSaaaaaaacgccaaagctatg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:204037548_204037549insA	uc002uzt.3	+	40	6541_6542	c.6208_6209insA	c.(6208-6210)GAAfs	p.E2070fs	NBEAL1_uc002uzs.3_Frame_Shift_Ins_p.E780fs	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	2070	BEACH.						binding			ovary(1)|skin(1)	2						GGTAGTTAATGAAAAAAACGCC	0.332													A	204037549	-	A	204037548	7	5	20	1	0	1	1	0	0	0	0	0	10188	1291	45	0	6362	0	NBEAL1	2	204037548	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	1886258	204037548	39161825	306	17977	64	2									
NBEAL1	65065	broad.mit.edu	37	chr2	204037549	204037550	+	Frame_Shift_Ins	INS	-	-	A													ccaattggggtagttaatgaINSaaaaaacgccaaagctatga							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:204037548_204037549G>GA	uc002uzt.3	+	39	6541_6542	c.6208_6209G>GA	c.(6208-6210)gaafs	p.E2070fs	NBEAL1_uc021vvj.1_Frame_Shift_Ins_p.E773fs	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2070	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGTAGTTAATGAAAAAAACGCC	0.332													A	204037550	-	A	204037549	7	5	20	1	0	1	1	0	0	0	0	0	10188	246	9	0	6363	0	NBEAL1	2	204037549	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	1	204037549	39161824	307	17978	64	2									
NRP2	8828	broad.mit.edu	37	chr2	206592625	206592625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattccccaggtggacctgcGctttttaaccatgctcacgg	9	13	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:206592625G>A	uc002vaw.2	+	7	1792	c.1001G>A	c.(1000-1002)CGC>CAC	p.R334H	NRP2_uc002vat.2_Missense_Mutation_p.R334H|NRP2_uc002vau.2_Missense_Mutation_p.R334H|NRP2_uc002vav.2_Missense_Mutation_p.R334H|NRP2_uc002vax.2_Missense_Mutation_p.R334H|NRP2_uc002vay.2_Missense_Mutation_p.R334H|NRP2_uc010fud.2_Missense_Mutation_p.R334H	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	334	Extracellular (Potential).|F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4						GTGGACCTGCGCTTTTTAACC	0.483													A	206592625	G	A	206592625	3	1	20	1	0	0	0	0	1	0	0	0	10661	1087	38	1	1027	1	NRP2	2	206592625	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2555076	206592625	36606748	308	17979											
C2orf80	389073	broad.mit.edu	37	chr2	209049730	209049730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggtcaaattcattttccCgaagtctgatgccaatataa	7	8	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:209049730C>T	uc002vcr.2	-	3	240	c.68G>A	c.(67-69)CGG>CAG	p.R23Q		NM_001099334	NP_001092804	Q0P641	CB080_HUMAN	hypothetical protein LOC389073	23										skin(1)	1						TTCATTTTCCCGAAGTCTGAT	0.413													T	209049730	C	T	209049730	3	4	20	1	0	0	0	0	1	0	0	0	2197	652	23	1	541	1	C2orf80	2	209049730	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2457105	209049730	34149643	309	17980											
PIKFYVE	200576	broad.mit.edu	37	chr2	209169732	209169732	+	Frame_Shift_Del	DEL	A	A	-													gccccctcaccctgctgaccAaaaaggtaggaggtagtcac							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:209169732delA	uc002vcz.2	+	12	1789	c.1631delA	c.(1630-1632)CAAfs	p.Q544fs	PIKFYVE_uc010fun.1_Frame_Shift_Del_p.Q225fs|PIKFYVE_uc002vcy.1_Intron|PIKFYVE_uc002vcv.2_Frame_Shift_Del_p.Q447fs|PIKFYVE_uc002vcw.2_Frame_Shift_Del_p.Q544fs|PIKFYVE_uc002vcx.2_Frame_Shift_Del_p.Q458fs	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	544					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						CCTGCTGACCAAAAAGGTAGG	0.547													-	209169732	A	-	209169732	7	5	20	1	0	1	0	1	0	0	0	0	11924	130	5	0	1673	0	PIKFYVE	2	209169732	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	120002	209169732	34029641	310	17981											
LANCL1	10314	broad.mit.edu	37	chr2	211336712	211336712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtaaccggtgccatccCgagggtctgctgatttcagg	13	11	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:211336712C>T	uc010zjh.1	-	3	245	c.170G>A	c.(169-171)CGG>CAG	p.R57Q	LANCL1_uc002ved.2_Missense_Mutation_p.R57Q|LANCL1_uc010fuq.2_Missense_Mutation_p.R57Q	NM_001136574	NP_001130046	O43813	LANC1_HUMAN	lanthionine synthetase C-like protein 1	57						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding				0				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		GGTGCCATCCCGAGGGTCTGC	0.498													T	211336712	C	T	211336712	3	4	20	1	0	0	0	0	1	0	0	0	8620	652	23	1	1061	1	LANCL1	2	211336712	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2166980	211336712	31862661	311	17982											
FN1	2335	broad.mit.edu	37	chr2	216272919	216272919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcaggaggggcatcaggCgctaagaaagaaagaaagtg	16	5	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:216272919C>T	uc002vfa.2	-	17	2696	c.2430G>A	c.(2428-2430)GCG>GCA	p.A810A	FN1_uc002vfb.2_Silent_p.A810A|FN1_uc002vfc.2_Silent_p.A810A|FN1_uc002vfd.2_Silent_p.A810A|FN1_uc002vfe.2_Silent_p.A810A|FN1_uc002vff.2_Silent_p.A810A|FN1_uc002vfg.2_Silent_p.A810A|FN1_uc002vfh.2_Silent_p.A810A|FN1_uc002vfi.2_Silent_p.A810A|FN1_uc002vfj.2_Silent_p.A810A	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	810					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGCATCAGGCGCTAAGAAAG	0.483													T	216272919	C	T	216272919	2	4	20	1	0	0	0	0	0	0	0	1	5962	782	27	1		1	FN1	2	216272919	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	4936207	216272919	26926454	312	17983											
FN1	2335	broad.mit.edu	37	chr2	216288950	216288950	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagatgtccgtcctgtcGcccttctgtggtgcaggagt	12	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:216288950G>A	uc002vfa.2	-	8	1401	c.1135C>T	c.(1135-1137)CGA>TGA	p.R379*	FN1_uc002vfb.2_Nonsense_Mutation_p.R379*|FN1_uc002vfc.2_Nonsense_Mutation_p.R379*|FN1_uc002vfd.2_Nonsense_Mutation_p.R379*|FN1_uc002vfe.2_Nonsense_Mutation_p.R379*|FN1_uc002vff.2_Nonsense_Mutation_p.R379*|FN1_uc002vfg.2_Nonsense_Mutation_p.R379*|FN1_uc002vfh.2_Nonsense_Mutation_p.R379*|FN1_uc002vfi.2_Nonsense_Mutation_p.R379*|FN1_uc002vfj.2_Nonsense_Mutation_p.R379*|FN1_uc002vfl.2_Nonsense_Mutation_p.R379*	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	379	Fibronectin type-II 1.|Collagen-binding.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCGTCCTGTCGCCCTTCTGTG	0.512													A	216288950	G	A	216288950	4	1	20	1	0	0	0	0	0	1	0	0	5962	1095	38	1	6487	1	FN1	2	216288950	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	16031	216288950	26910423	313	17984											
ACCN4	55515	broad.mit.edu	37	chr2	220401863	220401863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagcgagcagcctatggCctgtcagccctgctgggtga	15	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:220401863C>T	uc002vma.2	+	6	1643	c.1629C>T	c.(1627-1629)GGC>GGT	p.G543G	ACCN4_uc002vlz.2_Silent_p.G562G|ACCN4_uc002vmb.2_Silent_p.G216G	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN	amiloride-sensitive cation channel 4 isoform 2	543	Extracellular (Potential).					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity			ovary(2)	2		Renal(207;0.0183)		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)		CAGCCTATGGCCTGTCAGCCC	0.622													T	220401863	C	T	220401863	2	4	20	1	0	0	0	0	0	0	0	1	131	726	26	2		2	ACCN4	2	220401863	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	4112913	220401863	22797510	314	17985											
SERPINE2	5270	broad.mit.edu	37	chr2	224866464	224866464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcccatggggagagatcaCgatgttgtcatgaggcctcg	13	9	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:224866464C>T	uc002vnu.2	-	2	397	c.154G>A	c.(154-156)GTG>ATG	p.V52M	SERPINE2_uc002vnt.2_Missense_Mutation_p.V52M|SERPINE2_uc010zlr.1_Missense_Mutation_p.V64M|SERPINE2_uc002vnv.2_Missense_Mutation_p.V52M	NM_006216	NP_006207	P07093	GDN_HUMAN	plasminogen activator inhibitor type 1, member 2	52					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|ovary(1)|central_nervous_system(1)	4		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GGAGAGATCACGATGTTGTCA	0.567													T	224866464	C	T	224866464	3	4	20	1	0	0	0	0	1	0	0	0	14112	536	19	1	1074	1	SERPINE2	2	224866464	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	4464601	224866464	18332909	315	17986											
DOCK10	55619	broad.mit.edu	37	chr2	225729333	225729333	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgtttcccatcaagacTttttcgattttggccaccaa	6	11	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:225729333T>G	uc010fwz.1	-	13	1778	c.1539A>C	c.(1537-1539)AAA>AAC	p.K513N	DOCK10_uc002vob.2_Missense_Mutation_p.K507N|DOCK10_uc002vod.1_Missense_Mutation_p.K513N	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	513							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CCATCAAGACTTTTTCGATTT	0.363													G	225729333	T	G	225729333	3	3	20	1	0	0	0	0	1	0	0	0	4685	1606	56	5	5197	5	DOCK10	2	225729333	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	862869	225729333	17470040	316	17987											
IRS1	3667	broad.mit.edu	37	chr2	227661341	227661341	+	Frame_Shift_Del	DEL	C	C	-													gcaagacatgagagtggtggCcccctaccccgtttgtccac							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:227661340_227661340GC>G	uc021vxn.1	-	0	2115	c.2115_2115GC>C	c.(2113-2115)ggcfs	p.G705fs	IRS1_uc002voh.4_Frame_Shift_Del_p.G705fs	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	705					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.G704R(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GAGAGTGGTGGCCCCCTACCC	0.597											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	227661341	C	-	227661341	7	5	20	1	0	1	0	1	0	0	0	0	7840	739	26	0	1618	0	IRS1	2	227661341	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	1932008	227661341	15538032	317	17988											
DNER	92737	broad.mit.edu	37	chr2	230312192	230312192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtccacatagcaggtgccGttgttctggcacggagacga	13	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:230312192G>A	uc002vpv.2	-	8	1473	c.1326C>T	c.(1324-1326)AAC>AAT	p.N442N	DNER_uc010zly.1_Silent_p.N170N	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	442	Extracellular (Potential).|EGF-like 6.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AGCAGGTGCCGTTGTTCTGGC	0.532													A	230312192	G	A	230312192	2	1	20	1	0	0	0	0	0	0	0	1	4667	1136	40	1		1	DNER	2	230312192	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2650851	230312192	12887181	318	17989											
PSMD1	5707	broad.mit.edu	37	chr2	231927287	231927288	+	Frame_Shift_Ins	INS	-	-	T													cttagtggcatctaaagtatINStttatcacctgggggctttt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:231927286_231927287A>AT	uc002vrn.2	+	3	363_364	c.201_202A>AT	c.(199-204)gtatttfs	p.V67fs	PSMD1_uc002vrm.2_Frame_Shift_Ins_p.V67fs|PSMD1_uc010fxu.2_Intron	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (PSMD1), transcript variant 1, mRNA.	67					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CATCTAAAGTATTTTATCACCT	0.411													T	231927288	-	T	231927287	7	5	20	1	0	1	1	0	0	0	0	0	12692	1493	52	0	216	0	PSMD1	2	231927287	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	1615095	231927287	11272086	319	17990											
C2orf57	165100	broad.mit.edu	37	chr2	232457920	232457920	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagacacccagaaaaatcacAcctctgcttcccagccaaaa	4	15	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:232457920A>G	uc002vrz.2	+	1	309	c.258A>G	c.(256-258)ACA>ACG	p.T86T		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	hypothetical protein LOC165100	86										ovary(1)	1		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GAAAAATCACACCTCTGCTTC	0.527													G	232457920	A	G	232457920	2	3	20	1	0	0	0	0	0	0	0	1	2178	146	6	3		3	C2orf57	2	232457920	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	530633	232457920	10741453	320	17991											
CHRNG	1146	broad.mit.edu	37	chr2	233408082	233408082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctgaaacctcccaggcGgtgccactcatcagcaagta	10	14	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:233408082G>A	uc002vsx.1	+	8	924	c.903G>A	c.(901-903)GCG>GCA	p.A301A	CHRNG_uc010fye.1_Silent_p.A249A	NM_005199	NP_005190	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma	301					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CCTCCCAGGCGGTGCCACTCA	0.592													A	233408082	G	A	233408082	2	1	20	1	0	0	0	0	0	0	0	1	3396	1103	39	1		1	CHRNG	2	233408082	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	950162	233408082	9791291	321	17992											
NGEF	25791	broad.mit.edu	37	chr2	233748147	233748147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacacgcagcagtccccgcGgagctgagtcaaatacctgg	11	15	1	1	rs141871026	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:233748147G>A	uc002vts.2	-	12	1879	c.1631C>T	c.(1630-1632)CCG>CTG	p.P544L	NGEF_uc010zmm.1_Missense_Mutation_p.P267L|NGEF_uc010fyg.1_Missense_Mutation_p.P452L	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	544	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)|skin(1)	7		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CAGTCCCCGCGGAGCTGAGTC	0.652													A	233748147	G	A	233748147	3	1	20	1	0	0	0	0	1	0	0	0	10394	1116	39	1	517	1	NGEF	2	233748147	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	340065	233748147	9451226	322	17993											
NGEF	25791	broad.mit.edu	37	chr2	233759467	233759467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcccccccgtcctcaccGctcactgacagccagcacgt	7	21	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:233759467G>A	uc002vts.2	-	6	1236	c.988C>T	c.(988-990)CGG>TGG	p.R330W	NGEF_uc010zmm.1_Missense_Mutation_p.R53W|NGEF_uc010fyg.1_Missense_Mutation_p.R238W|NGEF_uc002vtt.2_Missense_Mutation_p.R238W	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	330	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)|skin(1)	7		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CGTCCTCACCGCTCACTGACA	0.597													A	233759467	G	A	233759467	3	1	20	1	0	0	0	0	1	0	0	0	10394	1101	38	1	1184	1	NGEF	2	233759467	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	11320	233759467	9439906	323	17994											
UGT1A1	54658	broad.mit.edu	37	chr2	234668959	234668959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggagtcccagggcggacGcccacttgtcctgggcctgc	15	14	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:234668959G>A	uc002vvb.2	+	1	41	c.26G>A	c.(25-27)CGC>CAC	p.R9H	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.R9H	NM_000463	NP_000454	P22309	UD11_HUMAN	UDP glycosyltransferase 1 family, polypeptide A1	9					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			central_nervous_system(1)|skin(1)	2		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CAGGGCGGACGCCCACTTGTC	0.567											OREG0003837	type=REGULATORY REGION|Gene=UGT1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	234668959	G	A	234668959	3	1	20	1	0	0	0	0	1	0	0	0	16941	1087	38	1	28	1	UGT1A1	2	234668959	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	909492	234668959	8530414	324	17995											
HJURP	55355	broad.mit.edu	37	chr2	234749838	234749838	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgagttgcgctgtgtgTggggttggtctttggaagtg	20	5	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:234749838T>C	uc002vvg.2	-	8	1654	c.1588A>G	c.(1588-1590)ACA>GCA	p.T530A	HJURP_uc010znd.1_Missense_Mutation_p.T469A|HJURP_uc010zne.1_Missense_Mutation_p.T438A	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	530					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GCGCTGTGTGTGGGGTTGGTC	0.473													C	234749838	T	C	234749838	3	2	20	1	0	0	0	0	1	0	0	0	7189	1696	59	3	666	3	HJURP	2	234749838	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	80879	234749838	8449535	325	17996											
ANKMY1	51281	broad.mit.edu	37	chr2	241439944	241439944	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcctgagcattacaggCttcaggatgtcggccccgtg	12	14	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:241439944C>A	uc002vyz.1	-	13	2527	c.2298G>T	c.(2296-2298)AAG>AAT	p.K766N	ANKMY1_uc002vza.1_Missense_Mutation_p.K542N|ANKMY1_uc010fzd.1_Missense_Mutation_p.K855N|ANKMY1_uc002vzb.1_Missense_Mutation_p.K527N|ANKMY1_uc002vzc.1_Missense_Mutation_p.K545N|ANKMY1_uc002vzd.1_Missense_Mutation_p.K589N	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	766	ANK 7.						zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GCATTACAGGCTTCAGGATGT	0.567													A	241439944	C	A	241439944	3	1	20	1	0	0	0	0	1	0	0	0	634	796	28	5	547	5	ANKMY1	2	241439944	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	6690106	241439944	1759429	326	17997											
CAPN10	11132	broad.mit.edu	37	chr2	241536203	241536203	+	Frame_Shift_Del	DEL	G	G	-													tggagagtcggccagacggcGgggggcagcaggaactttgc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:241536202_241536202CG>C	uc002vzk.2	+	8	1782	c.1586_1586CG>C	c.(1585-1587)gcgfs	p.A529fs	CAPN10_uc002vzp.2_Intron|CAPN10_uc002vzm.2_Intron|CAPN10_uc002vzl.2_Intron|CAPN10_uc002vzn.2_Frame_Shift_Del_p.A401fs|CAPN10_uc002vzo.2_Intron|CAPN10_uc010fzg.2_Intron|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	529	Domain III 2.		A -> S.		actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGCCAGACGGCGGGGGGCAGC	0.692													-	241536203	G	-	241536203	7	5	20	1	0	1	0	1	0	0	0	0	2623	1103	39	0	1621	0	CAPN10	2	241536203	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	96259	241536203	1663170	327	17998											
PASK	23178	broad.mit.edu	37	chr2	242076435	242076435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccttgcccaggagctccGtctttccgtaaccaaacagt	7	16	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:242076435G>A	uc002wao.1	-	7	1213	c.1121C>T	c.(1120-1122)ACG>ATG	p.T374M	PASK_uc010zol.1_Missense_Mutation_p.T188M|PASK_uc010zom.1_Missense_Mutation_p.T339M|PASK_uc010fzl.1_Missense_Mutation_p.T374M|PASK_uc010zon.1_Missense_Mutation_p.T155M|PASK_uc002wap.2_5'Flank|PASK_uc002waq.2_Missense_Mutation_p.T374M	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	374	PAS 2.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CAGGAGCTCCGTCTTTCCGTA	0.642													A	242076435	G	A	242076435	3	1	20	1	0	0	0	0	1	0	0	0	11472	1145	40	1	2898	1	PASK	2	242076435	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	540232	242076435	1122938	328	17999											
THAP4	51078	broad.mit.edu	37	chr2	242524055	242524055	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtaggtgacgtgaagaTgctgagtcattggctgtgtc	14	6	2	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:242524055T>C	uc002wbt.2	-	6	1923	c.1700A>G	c.(1699-1701)CAT>CGT	p.H567R	THAP4_uc002wbs.2_Missense_Mutation_p.H155R	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	THAP domain containing 4 isoform 1	567		Iron (heme axial ligand).					DNA binding|metal ion binding				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GACGTGAAGATGCTGAGTCAT	0.552													C	242524055	T	C	242524055	3	2	20	1	0	0	0	0	1	0	0	0	15843	1464	51	3	37	3	THAP4	2	242524055	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	447620	242524055	675318	329	18000											
GAL3ST2	64090	broad.mit.edu	37	chr2	242741320	242741320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagacccacaacctgtccGtggcgctgcccgccggctca	11	19	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:242741320G>A	uc002wcj.1	+	3	375	c.244G>A	c.(244-246)GTG>ATG	p.V82M		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	82	Lumenal (Potential).				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CAACCTGTCCGTGGCGCTGCC	0.652													A	242741320	G	A	242741320	3	1	20	1	0	0	0	0	1	0	0	0	6198	1145	40	1	254	1	GAL3ST2	2	242741320	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	217265	242741320	458053	330	18001											
TRNT1	51095	broad.mit.edu	37	chr3	3189636	3189636	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgtgaactactgaagtAccaaggagagcactgtctcc	10	9	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:3189636A>G	uc003bpp.3	+	8	1205	c.1103A>G	c.(1102-1104)TAC>TGC	p.Y368C	TRNT1_uc010hbv.2_Missense_Mutation_p.Y348C|TRNT1_uc003bpm.2_RNA	NM_182916	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	368					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding				0				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		CTACTGAAGTACCAAGGAGAG	0.428													G	3189636	A	G	3189636	3	3	20	1	0	0	0	0	1	0	0	0	16570	391	14	3	1129	3	TRNT1	3	3189636	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08		3189636	194832794	331	18002											
GRM7	2917	broad.mit.edu	37	chr3	6903533	6903533	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccggagaaagtagttggagTgattggggcttcggggagtt	19	4	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:6903533T>C	uc003bqm.2	+	1	732	c.458T>C	c.(457-459)GTG>GCG	p.V153A	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.V153A|GRM7_uc003bql.2_Missense_Mutation_p.V153A	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	153	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	GTAGTTGGAGTGATTGGGGCT	0.607													C	6903533	T	C	6903533	3	2	20	1	0	0	0	0	1	0	0	0	6802	1696	59	3	460	3	GRM7	3	6903533	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3713897	6903533	191118897	332	18003											
GRM7	2917	broad.mit.edu	37	chr3	7621037	7621037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttggcaccgctcaatcagCggaaaaggtaagtgaaaatg	11	7	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:7621037C>T	uc003bqm.2	+	8	2718	c.2444C>T	c.(2443-2445)GCG>GTG	p.A815V	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.A815V|GRM7_uc003bql.2_Missense_Mutation_p.A815V|GRM7_uc003bqn.1_Missense_Mutation_p.A398V|GRM7_uc010hch.1_Missense_Mutation_p.A326V	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	815	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	GCTCAATCAGCGGAAAAGGTA	0.333													T	7621037	C	T	7621037	3	4	20	1	0	0	0	0	1	0	0	0	6802	768	27	1	2474	1	GRM7	3	7621037	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	717504	7621037	190401393	333	18004											
SETD5	55209	broad.mit.edu	37	chr3	9488921	9488921	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctgaagttagcaactctgTttcaaatgttaccatcccaa	5	10	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:9488921T>G	uc003brt.2	+	14	2147	c.1712T>G	c.(1711-1713)GTT>GGT	p.V571G	SETD5_uc003brs.1_Missense_Mutation_p.V552G|SETD5_uc003bru.2_Missense_Mutation_p.V473G|SETD5_uc003brv.2_Missense_Mutation_p.V460G|SETD5_uc010hck.2_Missense_Mutation_p.V53G|SETD5_uc003brx.2_Missense_Mutation_p.V240G	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	571										ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGCAACTCTGTTTCAAATGTT	0.463													G	9488921	T	G	9488921	3	3	20	1	0	0	0	0	1	0	0	0	14134	1725	60	5	1758	5	SETD5	3	9488921	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1867884	9488921	188533509	334	18005											
SLC6A1	6529	broad.mit.edu	37	chr3	11059010	11059010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaaggtgcagaagaaggCggcagacctccccgaccggg	16	12	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:11059010C>T	uc010hdq.2	+	3	524	c.113C>T	c.(112-114)GCG>GTG	p.A38V		NM_003042	NP_003033	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter	38	Cytoplasmic (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)|skin(1)	2		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CAGAAGAAGGCGGCAGACCTC	0.642													T	11059010	C	T	11059010	3	4	20	1	0	0	0	0	1	0	0	0	14673	768	27	1	115	1	SLC6A1	3	11059010	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1570089	11059010	186963420	335	18006											
ATG7	10533	broad.mit.edu	37	chr3	11389392	11389392	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acatttgtggacaatgccaaGatctcctactccaatcctgt	6	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:11389392G>T	uc003bwc.2	+	12	1284	c.1167G>T	c.(1165-1167)AAG>AAT	p.K389N	ATG7_uc003bwd.2_Missense_Mutation_p.K389N|ATG7_uc011aum.1_Missense_Mutation_p.K350N	NM_006395	NP_006386	O95352	ATG7_HUMAN	APG7 autophagy 7-like isoform a	389					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)	1						ACAATGCCAAGATCTCCTACT	0.527													T	11389392	G	T	11389392	3	4	20	1	0	0	0	0	1	0	0	0	1101	933	33	5	1209	5	ATG7	3	11389392	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	330382	11389392	186633038	336	18007											
CAND2	23066	broad.mit.edu	37	chr3	12858373	12858373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactacagcttgacctacagCccatcctggccgaggcactg	9	16	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:12858373C>T	uc003bxk.2	+	10	1991	c.1942C>T	c.(1942-1944)CCC>TCC	p.P648S	CAND2_uc003bxj.2_Missense_Mutation_p.P555S	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	648	HEAT 14.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						TGACCTACAGCCCATCCTGGC	0.647													T	12858373	C	T	12858373	3	4	20	1	0	0	0	0	1	0	0	0	2616	739	26	2	1980	2	CAND2	3	12858373	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1468981	12858373	185164057	337	18008											
TMEM43	79188	broad.mit.edu	37	chr3	14175298	14175298	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaaattggcaggttttTcctctcgtcaggtaagtctc	9	10	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:14175298T>C	uc003byk.2	+	7	826	c.572T>C	c.(571-573)TTC>TCC	p.F191S	TMEM43_uc003byl.1_Missense_Mutation_p.F71S	NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	191	Lumenal (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				ovary(1)	1						GGCAGGTTTTTCCTCTCGTCA	0.592													C	14175298	T	C	14175298	3	2	20	1	0	0	0	0	1	0	0	0	16164	1783	62	3	598	3	TMEM43	3	14175298	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1316925	14175298	183847132	338	18009											
SATB1	6304	broad.mit.edu	37	chr3	18391030	18391030	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtggccgggtcttctgtcGgttttcctcatctgactctg	11	12	5	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:18391030G>A	uc003cbh.2	-	11	3659	c.1924C>T	c.(1924-1926)CGA>TGA	p.R642*	SATB1_uc003cbi.2_Nonsense_Mutation_p.R674*|SATB1_uc003cbj.2_Nonsense_Mutation_p.R642*	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	642					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						GTCTTCTGTCGGTTTTCCTCA	0.597													A	18391030	G	A	18391030	4	1	20	1	0	0	0	0	0	1	0	0	13853	1124	39	1	371	1	SATB1	3	18391030	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	4215732	18391030	179631400	339	18010											
SATB1	6304	broad.mit.edu	37	chr3	18436246	18436246	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taggtgttgatacgagcccaGggtgcaggtttggaagaggt	17	5	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:18436246G>T	uc003cbh.2	-	7	2649	c.914C>A	c.(913-915)CCT>CAT	p.P305H	SATB1_uc003cbi.2_Missense_Mutation_p.P305H|SATB1_uc003cbj.2_Missense_Mutation_p.P305H	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	305					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						TACGAGCCCAGGGTGCAGGTT	0.572													T	18436246	G	T	18436246	3	4	20	1	0	0	0	0	1	0	0	0	13853	1000	35	5	1397	5	SATB1	3	18436246	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	45216	18436246	179586184	340	18011											
SGOL1	151648	broad.mit.edu	37	chr3	20225109	20225109	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgaaaatacctgagcaggTtctactgtttgttgtgatgt	10	5	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:20225109T>C	uc003cbs.2	-	3	517	c.330A>G	c.(328-330)GAA>GAG	p.E110E	SGOL1_uc003cbr.2_Silent_p.E110E|SGOL1_uc010hfa.2_Silent_p.E110E|SGOL1_uc003cbt.2_Silent_p.E110E|SGOL1_uc003cbu.2_Silent_p.E110E|SGOL1_uc003cbv.2_Silent_p.E110E|SGOL1_uc003cbw.2_Silent_p.E110E|SGOL1_uc003cbx.2_Silent_p.E110E|SGOL1_uc003cby.2_Silent_p.E110E|SGOL1_uc003cbz.2_Silent_p.E110E|SGOL1_uc003cca.2_Silent_p.E110E|SGOL1_uc003ccb.2_Silent_p.E110E|SGOL1_uc003ccc.2_Silent_p.E110E	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 isoform A2	110	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding				0						CCTGAGCAGGTTCTACTGTTT	0.323													C	20225109	T	C	20225109	2	2	20	1	0	0	0	0	0	0	0	1	14216	1722	60	3		3	SGOL1	3	20225109	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1788863	20225109	177797321	341	18012											
NEK10	152110	broad.mit.edu	37	chr3	27157621	27157622	+	Splice_Site	INS	-	-	A													aatgctggttggtaaacctaINSaaaaagataaattatggaaa							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:27157620_27157621T>TA	uc010hfk.3	-	15	1527	c.1298_splice	c.e15-1	p.G433_splice	NEK10_uc010hfj.3_Splice_Site_p.G376_splice			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	1121							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTGGTAAACCTAAAAAAGATAA	0.347													A	27157622	-	A	27157621	8	5	20	1	0	1	1	0	0	0	1	0	10322	377	13	0		0	NEK10	3	27157621	Splice_Site	INS	-	TCGA-BR-4362-01A-01D-1158-08	6932512	27157621	170864809	342	18013											
RBMS3	27303	broad.mit.edu	37	chr3	29781233	29781233	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagagcaagacccaacaaAcctatacatctcaaatctcc	3	14	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:29781233A>G	uc003cel.2	+	5	652	c.422A>G	c.(421-423)AAC>AGC	p.N141S	RBMS3_uc003cek.2_Missense_Mutation_p.N141S|RBMS3_uc010hfq.2_Missense_Mutation_p.N141S|RBMS3_uc003cem.2_Missense_Mutation_p.N140S|RBMS3_uc010hfr.2_Missense_Mutation_p.N141S	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	141	RRM 2.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				GACCCAACAAACCTATACATC	0.368													G	29781233	A	G	29781233	3	3	20	1	0	0	0	0	1	0	0	0	13150	43	2	3	440	3	RBMS3	3	29781233	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2623612	29781233	168241197	343	18014											
TRIM71	131405	broad.mit.edu	37	chr3	32915308	32915308	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaccctctcttgtccccAggtgctgcacctgtactgtg	9	15	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:32915308A>G	uc003cff.2	+	2	916	c.853_splice	c.e2-2	p.V285_splice		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71						multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						TCTTGTCCCCAGGTGCTGCAC	0.592													G	32915308	A	G	32915308	5	3	20	1	0	0	0	0	0	0	1	0	16541	202	7	3	857	3	TRIM71	3	32915308	Splice_Site	SNP	A	TCGA-BR-4362-01A-01D-1158-08	3134075	32915308	165107122	344	18015											
STAC	6769	broad.mit.edu	37	chr3	36484874	36484874	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctccagaaactaaaacgaTcactttctttcaagaccaag	5	11	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:36484874T>G	uc003cgh.1	+	2	169	c.130T>G	c.(130-132)TCA>GCA	p.S44A	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.S44A	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	44					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						ACTAAAACGATCACTTTCTTT	0.473													G	36484874	T	G	36484874	3	3	20	1	0	0	0	0	1	0	0	0	15238	1435	50	5	136	5	STAC	3	36484874	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3569566	36484874	161537556	345	18016											
STAC	6769	broad.mit.edu	37	chr3	36484922	36484922	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaaaagtgctgacaacTtcttccagcgaaccaacagc	9	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:36484922T>G	uc003cgh.1	+	2	217	c.178T>G	c.(178-180)TTC>GTC	p.F60V	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.F60V	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	60					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						TGCTGACAACTTCTTCCAGCG	0.498													G	36484922	T	G	36484922	3	3	20	1	0	0	0	0	1	0	0	0	15238	1609	56	5	184	5	STAC	3	36484922	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	48	36484922	161537508	346	18017											
DLEC1	9940	broad.mit.edu	37	chr3	38163883	38163883	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcctatgatgagagatacAtgttgcctcaccagccctga	9	12	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:38163883A>G	uc003cho.1	+	37	5269	c.5248A>G	c.(5248-5250)ATG>GTG	p.M1750V	DLEC1_uc003chp.1_Silent_p.T1708T|DLEC1_uc010hgv.1_Missense_Mutation_p.M1753V|DLEC1_uc003chr.1_Missense_Mutation_p.M821V|DLEC1_uc003chs.1_Silent_p.T265T	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1750					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TGAGAGATACATGTTGCCTCA	0.602													G	38163883	A	G	38163883	3	3	20	1	0	0	0	0	1	0	0	0	4552	217	8	3	5394	3	DLEC1	3	38163883	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1678961	38163883	159858547	347	18018											
SLC22A14	9389	broad.mit.edu	37	chr3	38357177	38357177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgttcttcctctacaccGctgagctcctccccactgtg	7	17	2	1	rs114657493	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:38357177G>A	uc010hhc.1	+	9	1549	c.1507G>A	c.(1507-1509)GCT>ACT	p.A503T	SLC22A14_uc003cib.2_Missense_Mutation_p.A503T|SLC22A14_uc011ayo.1_RNA	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	organic cation transporter like 4	503	Helical; (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CCTCTACACCGCTGAGCTCCT	0.572													A	38357177	G	A	38357177	3	1	20	1	0	0	0	0	1	0	0	0	14445	1087	38	1	1537	1	SLC22A14	3	38357177	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	193294	38357177	159665253	348	18019											
SCN5A	6331	broad.mit.edu	37	chr3	38651314	38651314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttgagcgctgtgaagttgCgcacgcacttgtgccttagg	14	10	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:38651314C>T	uc003cio.2	-	7	1039	c.845G>A	c.(844-846)CGC>CAC	p.R282H	SCN5A_uc003cin.2_Missense_Mutation_p.R282H|SCN5A_uc003cil.3_Missense_Mutation_p.R282H|SCN5A_uc010hhi.2_Missense_Mutation_p.R282H|SCN5A_uc010hhk.2_Missense_Mutation_p.R282H|SCN5A_uc011ayr.1_Missense_Mutation_p.R282H|SCN5A_uc010hhl.1_Missense_Mutation_p.R105H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	282			R -> H (in BRS1).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGTGAAGTTGCGCACGCACTT	0.587													T	38651314	C	T	38651314	3	4	20	1	0	0	0	0	1	0	0	0	13922	768	27	1	5293	1	SCN5A	3	38651314	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	294137	38651314	159371116	349	18020											
SCN11A	11280	broad.mit.edu	37	chr3	38888742	38888742	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcagtggctgtattgaAgttctctaaaatcacagcaa	7	8	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:38888742A>C	uc011ays.1	-	26	5018	c.4819T>G	c.(4819-4821)TTC>GTC	p.F1607V		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1607					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCTGTATTGAAGTTCTCTAAA	0.408													C	38888742	A	C	38888742	3	2	20	1	0	0	0	0	1	0	0	0	13913	72	3	5	560	5	SCN11A	3	38888742	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	237428	38888742	159133688	350	18021											
SCN11A	11280	broad.mit.edu	37	chr3	38962583	38962583	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccataagcttccgggttActgatatttttacagtccct	6	10	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:38962583A>G	uc011ays.1	-	6	1075	c.876T>C	c.(874-876)AGT>AGC	p.S292S		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	292	I.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTTCCGGGTTACTGATATTTT	0.448													G	38962583	A	G	38962583	2	3	20	1	0	0	0	0	0	0	0	1	13913	388	14	3		3	SCN11A	3	38962583	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	73841	38962583	159059847	351	18022											
XIRP1	165904	broad.mit.edu	37	chr3	39230437	39230437	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcttgccctgtcagcTcgtccagtggctttgtctca	10	14	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:39230437T>G	uc003cjk.1	-	2	721	c.500A>C	c.(499-501)GAG>GCG	p.E167A	XIRP1_uc003cji.2_Missense_Mutation_p.E167A|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	167							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCTGTCAGCTCGTCCAGTGG	0.622													G	39230437	T	G	39230437	3	3	20	1	0	0	0	0	1	0	0	0	17426	1551	54	5	5035	5	XIRP1	3	39230437	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	267854	39230437	158791993	352	18023											
ULK4	54986	broad.mit.edu	37	chr3	41746635	41746635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgataaattcttctgatgCtgtcagtcctagaaatacag	7	8	3	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:41746635C>T	uc003ckv.3	-	27	2896	c.2695G>A	c.(2695-2697)GCA>ACA	p.A899T		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	899							ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCTTCTGATGCTGTCAGTCCT	0.333													T	41746635	C	T	41746635	3	4	20	1	0	0	0	0	1	0	0	0	16975	797	28	2	1176	2	ULK4	3	41746635	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2516198	41746635	156275795	353	18024											
SEC22C	9117	broad.mit.edu	37	chr3	42594846	42594846	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatttgccagaggttcctcAgcccgtgcaggtacatgttg	13	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:42594846A>G	uc003clj.2	-	7	924	c.806T>C	c.(805-807)CTG>CCG	p.L269P	SEC22C_uc003clh.2_Intron|SEC22C_uc011azo.1_Intron|SEC22C_uc010hic.2_Intron|SEC22C_uc003cli.2_Intron	NM_032970	NP_116752	Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C	269	Helical; (Potential).				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.222)		GAGGTTCCTCAGCCCGTGCAG	0.468													G	42594846	A	G	42594846	3	3	20	1	0	0	0	0	1	0	0	0	13990	188	7	3	155	3	SEC22C	3	42594846	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	848211	42594846	155427584	354	18025											
ZBTB47	92999	broad.mit.edu	37	chr3	42700986	42700986	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacagtcacatggccacacGgtcccgggagaacgcccggc	12	17	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:42700986G>T	uc003clu.1	+	1	113	c.11G>T	c.(10-12)CGG>CTG	p.R4L		NM_145166	NP_660149	Q9UFB7	ZBT47_HUMAN	zinc finger protein 651	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.216)		ATGGCCACACGGTCCCGGGAG	0.627													T	42700986	G	T	42700986	3	4	20	1	0	0	0	0	1	0	0	0	17545	1116	39	5	1141	5	ZBTB47	3	42700986	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	106140	42700986	155321444	355	18026											
LTF	4057	broad.mit.edu	37	chr3	46497793	46497793	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcacgtctttcggtcccGtagacttccgccgctacagg	9	15	2	1	rs145234336		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:46497793G>A	uc003cpq.2	-	3	341	c.303C>T	c.(301-303)TAC>TAT	p.Y101Y	LTF_uc003fzr.2_Silent_p.Y57Y|LTF_uc010hjh.2_Silent_p.Y101Y|LTF_uc003cpr.2_Silent_p.Y88Y	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	101	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			central_nervous_system(2)|ovary(1)|lung(1)	4				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TTTCGGTCCCGTAGACTTCCG	0.592													A	46497793	G	A	46497793	2	1	20	1	0	0	0	0	0	0	0	1	9079	1140	40	1		1	LTF	3	46497793	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3796807	46497793	151524637	356	18027											
NBEAL2	23218	broad.mit.edu	37	chr3	47030358	47030358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcaggtgcagaggtccCgctgctaccactggatgagc	16	11	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:47030358C>T	uc003cqp.2	+	3	346	c.167C>T	c.(166-168)CCG>CTG	p.P56L	NBEAL2_uc003cqq.1_Missense_Mutation_p.P49L	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	56							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCAGAGGTCCCGCTGCTACCA	0.612													T	47030358	C	T	47030358	3	4	20	1	0	0	0	0	1	0	0	0	10189	652	23	1	177	1	NBEAL2	3	47030358	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	532565	47030358	150992072	357	18028											
UQCRC1	7384	broad.mit.edu	37	chr3	48638477	48638477	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgcaaggccacattgtcCgggctggcccagccaggacc	12	15	0	0	rs141289289		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:48638477C>T	uc003cub.1	-	8	942	c.897G>A	c.(895-897)CCG>CCA	p.P299P	UQCRC1_uc003cua.1_Silent_p.P184P|UQCRC1_uc003cuc.1_Silent_p.P300P|UQCRC1_uc003cud.1_Silent_p.P299P	NM_003365	NP_003356	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	299					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	CCACATTGTCCGGGCTGGCCC	0.592													T	48638477	C	T	48638477	2	4	20	1	0	0	0	0	0	0	0	1	17016	639	23	1		1	UQCRC1	3	48638477	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1608119	48638477	149383953	358	18029											
USP19	10869	broad.mit.edu	37	chr3	49149205	49149205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgagactccaaggccatgCggcctggctgaaagggtggc	15	11	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:49149205C>T	uc003cwd.1	-	20	2797	c.2636G>A	c.(2635-2637)CGC>CAC	p.R879H	USP19_uc003cwa.2_Missense_Mutation_p.R687H|USP19_uc003cvz.3_Missense_Mutation_p.R982H|USP19_uc011bcg.1_Missense_Mutation_p.R970H|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.R637H|USP19_uc011bch.1_Missense_Mutation_p.R980H	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	879	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAAGGCCATGCGGCCTGGCTG	0.597													T	49149205	C	T	49149205	3	4	20	1	0	0	0	0	1	0	0	0	17047	768	27	1	1348	1	USP19	3	49149205	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	510728	49149205	148873225	359	18030											
LAMB2	3913	broad.mit.edu	37	chr3	49168877	49168877	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacacgatagatgaccTggagaagcagggagttcata	12	9	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:49168877T>C	uc003cwe.2	-	6	948	c.649_splice	c.e6-1	p.V217_splice	LAMB2_uc003cwf.1_Splice_Site_p.V217_splice	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor						cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATAGATGACCTGGAGAAGCAG	0.597													C	49168877	T	C	49168877	5	2	20	1	0	0	0	0	0	0	1	0	8611	1594	55	3	4857	3	LAMB2	3	49168877	Splice_Site	SNP	T	TCGA-BR-4362-01A-01D-1158-08	19672	49168877	148853553	360	18031											
MON1A	84315	broad.mit.edu	37	chr3	49949267	49949267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtcccgggccacacccGtcagctgggtgcttagctcg	14	15	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:49949267G>A	uc003cxz.2	-	3	722	c.596C>T	c.(595-597)ACG>ATG	p.T199M	MON1A_uc003cya.2_Intron|MON1A_uc003cyb.2_Intron	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	MON1 homolog A isoform a	102							protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGCCACACCCGTCAGCTGGGT	0.662													A	49949267	G	A	49949267	3	1	20	1	0	0	0	0	1	0	0	0	9698	1145	40	1	1378	1	MON1A	3	49949267	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	780390	49949267	148073163	361	18032											
SEMA3F	6405	broad.mit.edu	37	chr3	50211525	50211525	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcgcatcgaggaatgcgTgctctcaggcaaggatgtca	13	10	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:50211525T>C	uc003cyj.2	+	4	512	c.314T>C	c.(313-315)GTG>GCG	p.V105A	SEMA3F_uc003cyk.2_Missense_Mutation_p.V105A	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	105	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GAGGAATGCGTGCTCTCAGGC	0.632													C	50211525	T	C	50211525	3	2	20	1	0	0	0	0	1	0	0	0	14029	1696	59	3	324	3	SEMA3F	3	50211525	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	262258	50211525	147810905	362	18033											
SEMA3F	6405	broad.mit.edu	37	chr3	50219807	50219807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcagacagccatgcgcaCggatcagtacaactcccggt	10	13	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:50219807C>T	uc003cyj.2	+	8	932	c.734C>T	c.(733-735)ACG>ATG	p.T245M	SEMA3F_uc003cyk.2_Missense_Mutation_p.T214M	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	245	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GCCATGCGCACGGATCAGTAC	0.567													T	50219807	C	T	50219807	3	4	20	1	0	0	0	0	1	0	0	0	14029	536	19	1	760	1	SEMA3F	3	50219807	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	8282	50219807	147802623	363	18034											
GNAI2	2771	broad.mit.edu	37	chr3	50289879	50289879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgccggcagtaccgggCggttgtctacagcaacacca	13	12	1	0	rs138213627		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:50289879C>T	uc003cyq.1	+	3	333	c.212C>T	c.(211-213)GCG>GTG	p.A71V	GNAI2_uc003cyo.1_Missense_Mutation_p.A55V|GNAI2_uc003cyp.1_Missense_Mutation_p.A55V|GNAI2_uc010hlg.1_5'UTR|GNAI2_uc011bdn.1_Missense_Mutation_p.A34V|GNAI2_uc003cyr.1_5'UTR	NM_002070	NP_002061	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein),	71					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CAGTACCGGGCGGTTGTCTAC	0.587													T	50289879	C	T	50289879	3	4	20	1	0	0	0	0	1	0	0	0	6505	768	27	1	233	1	GNAI2	3	50289879	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	70072	50289879	147732551	364	18035											
CACNA2D2	9254	broad.mit.edu	37	chr3	50418494	50418494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgtggggtcttgtctgCggttttccatgaacacattc	12	9	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:50418494C>T	uc003daq.2	-	7	754	c.716G>A	c.(715-717)CGC>CAC	p.R239H	CACNA2D2_uc003dap.2_Missense_Mutation_p.R239H	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha	239	Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GTCTTGTCTGCGGTTTTCCAT	0.617													T	50418494	C	T	50418494	3	4	20	1	0	0	0	0	1	0	0	0	2549	768	27	1	2874	1	CACNA2D2	3	50418494	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	128615	50418494	147603936	365	18036											
CISH	1154	broad.mit.edu	37	chr3	50645819	50645821	+	In_Frame_Del	DEL	AGG	AGG	-													ctcaccagattcccgaaggtAggagaaggtcttggctatgc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:50645818_50645820TAGG>T	uc010hlq.3	-	2	563_565	c.276_278CCTA>A	c.(274-279)tcctac>tcAc	p.Y93del	CISH_uc003dax.3_In_Frame_Del_p.Y76del	NM_013324	NP_037456	Q9NSE2	CISH_HUMAN	Homo sapiens cytokine inducible SH2-containing protein (CISH), transcript variant 1, mRNA.	76	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TTCCCGAAGGTAGGAGAAGGTCT	0.571													-	50645821	AGG	-	50645819	7	5	20	1	0	1	0	1	0	0	0	0	3437	420	15	0	558	0	CISH	3	50645819	In_Frame_Del	DEL	AGG	TCGA-BR-4362-01A-01D-1158-08	227325	50645819	147376611	366	18037											
VPRBP	9730	broad.mit.edu	37	chr3	51457448	51457448	+	Frame_Shift_Del	DEL	T	T	-													ggaagatgtctgtccagctgTttttttatggctgggctttg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:51457447_51457447GT>G	uc003dbe.2	-	13	3003	c.2818_2818AC>C	c.(2818-2820)cagfs	p.Q940fs	VPRBP_uc021wys.1_Frame_Shift_Del_p.Q939fs|VPRBP_uc003dbf.1_Frame_Shift_Del_p.Q269fs	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	993					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CTGTCCAGCTGTTTTTTTATG	0.502													-	51457448	T	-	51457448	7	5	20	1	0	1	0	1	0	0	0	0	17182	1722	60	0	1591	0	VPRBP	3	51457448	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	811629	51457448	146564982	367	18038											
RAD54L2	23132	broad.mit.edu	37	chr3	51669660	51669660	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattgggtgtcagagggtggCgtgctgctgatggggtacga	20	5	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:51669660C>T	uc011bdt.1	+	9	1319	c.1194C>T	c.(1192-1194)GGC>GGT	p.G398G	RAD54L2_uc003dbh.2_5'UTR|RAD54L2_uc011bdu.1_Silent_p.G92G|RAD54L2_uc003dbj.2_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	398	Helicase ATP-binding.					nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CAGAGGGTGGCGTGCTGCTGA	0.473													T	51669660	C	T	51669660	2	4	20	1	0	0	0	0	0	0	0	1	12994	755	27	1		1	RAD54L2	3	51669660	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	212212	51669660	146352770	368	18039											
PCBP4	57060	broad.mit.edu	37	chr3	51994571	51994571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgaaagcaatcatggagaCtgcatggaagacagctgctg	12	7	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:51994571C>T	uc003dcd.1	-	4	622	c.226G>A	c.(226-228)GTC>ATC	p.V76I	PCBP4_uc003dcb.1_Missense_Mutation_p.V42I|PCBP4_uc003dcc.1_Missense_Mutation_p.V42I|PCBP4_uc003dce.1_Missense_Mutation_p.V76I|PCBP4_uc003dcf.1_Missense_Mutation_p.V76I|PCBP4_uc003dcg.1_Missense_Mutation_p.V42I|PCBP4_uc003dch.1_Missense_Mutation_p.V76I|PCBP4_uc003dci.1_5'UTR|PCBP4_uc003dcj.1_Missense_Mutation_p.V76I|PCBP4_uc003dck.1_Missense_Mutation_p.V76I|PCBP4_uc003dcl.1_Missense_Mutation_p.V76I	NM_033010	NP_127503	P57723	PCBP4_HUMAN	poly(rC) binding protein 4 isoform c	76						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATCATGGAGACTGCATGGAAG	0.572													T	51994571	C	T	51994571	3	4	20	1	0	0	0	0	1	0	0	0	11503	565	20	4	1021	4	PCBP4	3	51994571	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	324911	51994571	146027859	369	18040											
ABHD14B	84836	broad.mit.edu	37	chr3	52004061	52004061	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggccgtgaggaagggcagGgagtacatgccactcagtga	18	8	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:52004061G>T	uc003dcm.2	-	3	1239	c.351C>A	c.(349-351)TCC>TCA	p.S117S	PCBP4_uc003dch.1_5'Flank|PCBP4_uc003dci.1_5'Flank|PCBP4_uc003dcj.1_5'Flank|PCBP4_uc003dck.1_5'Flank|ABHD14B_uc010hly.2_Intron|ABHD14B_uc011bdy.1_Silent_p.S117S|ABHD14B_uc003dcn.2_Silent_p.S117S|ABHD14B_uc011bdz.1_Silent_p.S117S	NM_032750	NP_116139	Q96IU4	ABHEB_HUMAN	abhydrolase domain containing 14B	117						cytoplasm|nucleus	hydrolase activity				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072)		GGAAGGGCAGGGAGTACATGC	0.627													T	52004061	G	T	52004061	2	4	20	1	0	0	0	0	0	0	0	1	80	1219	43	5		5	ABHD14B	3	52004061	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	9490	52004061	146018369	370	18041											
ALAS1	211	broad.mit.edu	37	chr3	52245348	52245348	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcgccagcacgagttctctGattgacaccgtacggtccta	9	13	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:52245348G>T	uc003dcy.1	+	10	1717	c.1380G>T	c.(1378-1380)CTG>CTT	p.L460L	ALAS1_uc003dcz.1_Silent_p.L460L|ALAS1_uc011bec.1_Silent_p.L477L	NM_000688	NP_000679	P13196	HEM1_HUMAN	5-aminolevulinate synthase 1 precursor	460					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)|upper_aerodigestive_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CGAGTTCTCTGATTGACACCG	0.522													T	52245348	G	T	52245348	2	4	20	1	0	0	0	0	0	0	0	1	484	1277	45	5		5	ALAS1	3	52245348	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	241287	52245348	145777082	371	18042											
DNAH1	25981	broad.mit.edu	37	chr3	52379598	52379598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacggccagaggtcatcaCggccctcagcaaggtgaggg	14	13	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:52379598C>T	uc011bef.1	+	10	1793	c.1532C>T	c.(1531-1533)ACG>ATG	p.T511M	DNAH1_uc003ddt.1_Missense_Mutation_p.T511M	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	511	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGGTCATCACGGCCCTCAGC	0.592													T	52379598	C	T	52379598	3	4	20	1	0	0	0	0	1	0	0	0	4597	536	19	1	1566	1	DNAH1	3	52379598	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	134250	52379598	145642832	372	18043											
PBRM1	55193	broad.mit.edu	37	chr3	52676064	52676066	+	Splice_Site	DEL	ACA	ACA	-													tgtactgctcttttattactAcaaaaaaaaaaaaagcaatt					rs11719685	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:52676063_52676065TACA>T	uc003des.2	-	10	1008	c.996_splice	c.e10-1	p.R332_splice	PBRM1_uc003dex.2_Splice_Site|PBRM1_uc003deq.2_Splice_Site_p.R332_splice|PBRM1_uc003der.2_Splice_Site_p.S300_splice|PBRM1_uc003det.2_Splice_Site_p.R332_splice|PBRM1_uc003deu.2_Splice_Site_p.R332_splice|PBRM1_uc003dev.2_Splice_Site|PBRM1_uc003dew.2_Splice_Site_p.R332_splice|PBRM1_uc010hmk.1_Splice_Site_p.R332_splice|PBRM1_uc003dey.2_Splice_Site_p.R332_splice|PBRM1_uc003dez.1_Splice_Site_p.R332_splice|PBRM1_uc003dfb.1_Splice_Site_p.R230_splice	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	332					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTTTTATTACTACAAAAAAAAAA	0.34			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								-	52676066	ACA	-	52676064	8	5	20	1	0	1	0	1	0	0	1	0	11491	406	14	0		0	PBRM1	3	52676064	Splice_Site	DEL	ACA	TCGA-BR-4362-01A-01D-1158-08	296466	52676064	145346366	373	18044											
CACNA1D	776	broad.mit.edu	37	chr3	53781379	53781379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgacagtcctgtggtccGtgaacggatctggcaaaaca	12	9	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:53781379G>A	uc003dgv.3	+	26	3381	c.3218G>A	c.(3217-3219)CGT>CAT	p.R1073H	CACNA1D_uc003dgu.3_Missense_Mutation_p.R1093H|CACNA1D_uc003dgy.3_Missense_Mutation_p.R1073H|CACNA1D_uc003dgw.3_Missense_Mutation_p.R740H|CACNA1D_uc003dgx.1_Missense_Mutation_p.R221H	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1073	Extracellular (Potential).|III.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCTGTGGTCCGTGAACGGATC	0.527													A	53781379	G	A	53781379	3	1	20	1	0	0	0	0	1	0	0	0	2541	1145	40	1	3492	1	CACNA1D	3	53781379	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1105315	53781379	144241051	374	18045											
FLNB	2317	broad.mit.edu	37	chr3	58134519	58134519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccaaagtctatggccgcGgcctgtcagaaggccggact	14	12	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:58134519G>A	uc003djj.2	+	36	6196	c.6031G>A	c.(6031-6033)GGC>AGC	p.G2011S	FLNB_uc010hne.2_Missense_Mutation_p.G2042S|FLNB_uc003djk.2_Missense_Mutation_p.G2000S|FLNB_uc010hnf.2_Missense_Mutation_p.G1987S|FLNB_uc003djl.2_Missense_Mutation_p.G1831S|FLNB_uc003djm.2_Missense_Mutation_p.G1818S|FLNB_uc010hng.1_5'Flank	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	2011	Filamin 19.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CTATGGCCGCGGCCTGTCAGA	0.582													A	58134519	G	A	58134519	3	1	20	1	0	0	0	0	1	0	0	0	5934	1116	39	1	6270	1	FLNB	3	58134519	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	4353140	58134519	139887911	375	18046											
PDHB	5162	broad.mit.edu	37	chr3	58414198	58414198	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaccagtttctttgaaatAccttccatgatcctggcaca	6	11	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:58414198A>G	uc003dkf.3	-	9	963	c.934_splice	c.e9+1	p.G312_splice	PDHB_uc003dke.3_Splice_Site_p.G270_splice|PDHB_uc003dkg.3_Splice_Site_p.G294_splice|PDHB_uc010hnl.2_Silent_p.G294G|PDHB_uc011bff.1_Splice_Site_p.G294_splice	NM_000925	NP_000916	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta						glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	NADH(DB00157)|Pyruvic acid(DB00119)	TCTTTGAAATACCTTCCATGA	0.418													G	58414198	A	G	58414198	5	3	20	1	0	0	0	0	0	0	1	0	11666	405	14	3	151	3	PDHB	3	58414198	Splice_Site	SNP	A	TCGA-BR-4362-01A-01D-1158-08	279679	58414198	139608232	376	18047											
LMOD3	56203	broad.mit.edu	37	chr3	69168508	69168508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtctcattaaactggagaCacctcatgatggccacaatc	8	12	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:69168508C>T	uc003dns.2	-	2	1207	c.998G>A	c.(997-999)TGT>TAT	p.C333Y	LMOD3_uc003dnt.2_Missense_Mutation_p.C333Y	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	333						cytoplasm|cytoskeleton	tropomyosin binding			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		AAACTGGAGACACCTCATGAT	0.453													T	69168508	C	T	69168508	3	4	20	1	0	0	0	0	1	0	0	0	8858	478	17	4	692	4	LMOD3	3	69168508	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	10754310	69168508	128853922	377	18048											
LMOD3	56203	broad.mit.edu	37	chr3	69171477	69171477	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caagttggccaagatttcatCttcattaatctcctcatcga	5	11	5	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:69171477C>T	uc003dns.2	-	1	270	c.61G>A	c.(61-63)GAT>AAT	p.D21N	LMOD3_uc003dnt.2_Missense_Mutation_p.D21N	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	21	Potential.					cytoplasm|cytoskeleton	tropomyosin binding			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		AAGATTTCATCTTCATTAATC	0.393													T	69171477	C	T	69171477	3	4	20	1	0	0	0	0	1	0	0	0	8858	913	32	4	1633	4	LMOD3	3	69171477	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2969	69171477	128850953	378	18049											
ROBO1	6091	broad.mit.edu	37	chr3	79174622	79174622	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacctgtatagcccagcgaAttgtcatcgttatcagaggt	9	10	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:79174622A>C	uc003dqe.2	-	3	364	c.156T>G	c.(154-156)AAT>AAG	p.N52K		NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	52	Extracellular (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AGCCCAGCGAATTGTCATCGT	0.493													C	79174622	A	C	79174622	3	2	20	1	0	0	0	0	1	0	0	0	13513	98	4	5	4987	5	ROBO1	3	79174622	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	10003145	79174622	118847808	379	18050											
NFKBIZ	64332	broad.mit.edu	37	chr3	101575980	101575980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcaaatctggaactcattCgcctctttttggagctgccc	8	12	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:101575980C>T	uc003dvp.2	+	10	2003	c.1888C>T	c.(1888-1890)CGC>TGC	p.R630C	NFKBIZ_uc003dvo.2_Missense_Mutation_p.R530C|NFKBIZ_uc010hpo.2_Missense_Mutation_p.R530C|NFKBIZ_uc003dvq.2_Missense_Mutation_p.R508C	NM_031419	NP_113607	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene	630	Interaction with NFKB1/p50 (By similarity).|ANK 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(2)	2						GGAACTCATTCGCCTCTTTTT	0.463													T	101575980	C	T	101575980	3	4	20	1	0	0	0	0	1	0	0	0	10383	884	31	1	1926	1	NFKBIZ	3	101575980	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	22401358	101575980	96446450	380	18051											
ZPLD1	131368	broad.mit.edu	37	chr3	102171933	102171933	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acacctttccagcagtggtcAtttttatcatcaatctcagc	5	12	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:102171933A>T	uc003dvs.1	+	10	1159	c.277A>T	c.(277-279)ATT>TTT	p.I93F	ZPLD1_uc003dvt.1_Missense_Mutation_p.I109F|ZPLD1_uc011bhg.1_Missense_Mutation_p.I93F	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	93	ZP.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(2)|central_nervous_system(1)	5						AGCAGTGGTCATTTTTATCAT	0.453													T	102171933	A	T	102171933	3	4	20	1	0	0	0	0	1	0	0	0	18218	217	8	5	335	5	ZPLD1	3	102171933	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	595953	102171933	95850497	381	18052											
MYH15	22989	broad.mit.edu	37	chr3	108172981	108172981	+	Frame_Shift_Del	DEL	A	A	-													tggcccagaaacccagctttAaaaaacacctaaaggaaaag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:108172980_108172980TA>T	uc003dxa.1	-	21	2389	c.2332_2332TA>A	c.(2332-2334)aaafs	p.K778fs		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	778	Actin-binding (By similarity).|Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AACCCAGCTTTAAAAAACACC	0.408													-	108172981	A	-	108172981	7	5	20	1	0	1	0	1	0	0	0	0	10034	359	13	0	3593	0	MYH15	3	108172981	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	6001048	108172981	89849449	382	18053											
MYH15	22989	broad.mit.edu	37	chr3	108220600	108220600	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgcttcagggtatgcaGcacggatgcctcattgaggt	14	11	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:108220600G>A	uc003dxa.1	-	4	415	c.358C>T	c.(358-360)CTG>TTG	p.L120L		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	120	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						AGGGTATGCAGCACGGATGCC	0.463													A	108220600	G	A	108220600	2	1	20	1	0	0	0	0	0	0	0	1	10034	962	34	2		2	MYH15	3	108220600	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	47619	108220600	89801830	383	18054											
WDR52	55779	broad.mit.edu	37	chr3	113085121	113085121	+	Frame_Shift_Del	DEL	T	T	-													catagactcgaattgctccaTttttcattccacaaaacatc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:113085120_113085120AT>A	uc003ead.2	-	18	2548	c.2481_2481AT>T	c.(2479-2481)aatfs	p.N827fs	WDR52_uc003eae.2_Frame_Shift_Del_p.N827fs	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	827										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GAATTGCTCCATTTTTCATTC	0.313													-	113085121	T	-	113085121	7	5	20	1	0	1	0	1	0	0	0	0	17301	1493	52	0	3167	0	WDR52	3	113085121	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	4864521	113085121	84937309	384	18055											
WDR52	55779	broad.mit.edu	37	chr3	113128021	113128021	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaagtaaccttaaaaacTtcctgagaaaaagcttttgt	6	6	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:113128021T>G	uc003eae.1	-	7	868	c.822A>C	c.(820-822)GAA>GAC	p.E274D		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	274	WD 2.									central_nervous_system(1)	1						CCTTAAAAACTTCCTGAGAAA	0.438													G	113128021	T	G	113128021	3	3	20	1	0	0	0	0	1	0	0	0	17301	1606	56	5	4873	5	WDR52	3	113128021	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	42900	113128021	84894409	385	18056											
SIDT1	54847	broad.mit.edu	37	chr3	113327350	113327350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgctcagtgcttgctacCatgtctgccctaattattcc	9	12	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:113327350C>T	uc003eak.2	+	17	2338	c.1687C>T	c.(1687-1689)CAT>TAT	p.H563Y	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.H563Y|SIDT1_uc011big.1_Missense_Mutation_p.H316Y|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_Missense_Mutation_p.H16Y	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	563	Extracellular (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						TGCTTGCTACCATGTCTGCCC	0.428													T	113327350	C	T	113327350	3	4	20	1	0	0	0	0	1	0	0	0	14302	594	21	4	1753	4	SIDT1	3	113327350	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	199329	113327350	84695080	386	18057											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-													cacctgggggtgtgcctgcaGggggggtcccattgctggca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:114058002_114058002AG>A	uc003ebi.3	-	4	2256	c.2076_2076CT>T	c.(2074-2076)cctfs	p.P692fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P619fs	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGTGCCTGCAGGGGGGGTCC	0.632													-	114058003	G	-	114058003	7	5	20	1	0	1	0	1	0	0	0	0	17526	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	730653	114058003	83964427	387	18058											
GOLGB1	2804	broad.mit.edu	37	chr3	121416792	121416792	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cactttacttgagatatgccTtacacgttctgccccctcaa	5	14	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:121416792T>A	uc003eei.3	-	13	2689	c.2563A>T	c.(2563-2565)AGG>TGG	p.R855W	GOLGB1_uc010hrc.2_Missense_Mutation_p.R860W|GOLGB1_uc003eej.3_Missense_Mutation_p.R821W|GOLGB1_uc011bjm.1_Missense_Mutation_p.R741W|GOLGB1_uc010hrd.1_Missense_Mutation_p.R819W	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	855	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		GAGATATGCCTTACACGTTCT	0.433													A	121416792	T	A	121416792	3	1	20	1	0	0	0	0	1	0	0	0	6565	1608	56	5	7256	5	GOLGB1	3	121416792	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	7358789	121416792	76605638	388	18059											
HSPBAP1	79663	broad.mit.edu	37	chr3	122474162	122474162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttccggaactgaggaaaaCgctttaaatcaggattgaca	9	8	1	2	rs115965208	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:122474162C>T	uc003efu.1	-	5	809	c.686G>A	c.(685-687)CGT>CAT	p.R229H	HSPBAP1_uc003efv.1_3'UTR	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Hspb associated protein 1	229	JmjC.					cytoplasm				ovary(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.0531)		CTGAGGAAAACGCTTTAAATC	0.418													T	122474162	C	T	122474162	3	4	20	1	0	0	0	0	1	0	0	0	7425	536	19	1	796	1	HSPBAP1	3	122474162	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1057370	122474162	75548268	389	18060											
KALRN	8997	broad.mit.edu	37	chr3	124351289	124351289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatactctcattcctcaagCgagaatggaggcaagtccga	10	11	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:124351289C>T	uc003ehg.2	+	35	5326	c.5199C>T	c.(5197-5199)AGC>AGT	p.S1733S	KALRN_uc003ehi.2_Silent_p.S106S|KALRN_uc003ehk.2_Silent_p.S36S|KALRN_uc003ehj.2_Silent_p.S36S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1733					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						ATTCCTCAAGCGAGAATGGAG	0.592													T	124351289	C	T	124351289	2	4	20	1	0	0	0	0	0	0	0	1	7975	767	27	1		1	KALRN	3	124351289	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1877127	124351289	73671141	390	18061											
KALRN	8997	broad.mit.edu	37	chr3	124413236	124413236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttgcttggggacacagTgatactgcagtgcaaagtct	12	9	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:124413236T>C	uc003ehg.2	+	53	7590	c.7463T>C	c.(7462-7464)GTG>GCG	p.V2488A	KALRN_uc003ehk.2_Missense_Mutation_p.V791A	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2487	Ig-like C2-type.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GGGGACACAGTGATACTGCAG	0.493													C	124413236	T	C	124413236	3	2	20	1	0	0	0	0	1	0	0	0	7975	1696	59	3	7829	3	KALRN	3	124413236	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	61947	124413236	73609194	391	18062											
ALDH1L1	10840	broad.mit.edu	37	chr3	125824741	125824741	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggccaaattccgtggcattGgcccgagacagcacggcatc	12	13	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:125824741G>T	uc003eim.1	-	22	2671	c.2481C>A	c.(2479-2481)GCC>GCA	p.A827A	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Silent_p.A726A|ALDH1L1_uc003ein.1_Silent_p.A362A	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	827	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCGTGGCATTGGCCCGAGACA	0.592													T	125824741	G	T	125824741	2	4	20	1	0	0	0	0	0	0	0	1	494	1335	47	5		5	ALDH1L1	3	125824741	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1411505	125824741	72197689	392	18063											
CHST13	166012	broad.mit.edu	37	chr3	126261003	126261003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggcgctacggtgcacGcatcgttcagcgcctgcggc	14	15	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:126261003G>A	uc003eja.2	+	3	608	c.608G>A	c.(607-609)CGC>CAC	p.R203H		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	carbohydrate sulfotransferase 13	203	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.151)		TACGGTGCACGCATCGTTCAG	0.552													A	126261003	G	A	126261003	3	1	20	1	0	0	0	0	1	0	0	0	3401	1087	38	1	618	1	CHST13	3	126261003	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	436262	126261003	71761427	393	18064											
PODXL2	50512	broad.mit.edu	37	chr3	127379771	127379771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtttgtctggccagcaCgaggaggtgccggccttgcc	16	12	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:127379771C>T	uc003ejq.2	+	3	924	c.900C>T	c.(898-900)CAC>CAT	p.H300H		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2 precursor	300	Extracellular (Potential).				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			ovary(1)|central_nervous_system(1)	2						CTGGCCAGCACGAGGAGGTGC	0.612													T	127379771	C	T	127379771	2	4	20	1	0	0	0	0	0	0	0	1	12181	535	19	1		1	PODXL2	3	127379771	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1118768	127379771	70642659	394	18065											
RPN1	6184	broad.mit.edu	37	chr3	128344441	128344441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacaggatgtagaaggccGccaccaccagcaggggctcc	13	13	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:128344441G>A	uc003ekr.1	-	8	1407	c.1331C>T	c.(1330-1332)GCG>GTG	p.A444V	RPN1_uc011bkq.1_Missense_Mutation_p.A272V	NM_002950	NP_002941	P04843	RPN1_HUMAN	ribophorin I precursor	444	Helical; (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(114;0.189)		GTAGAAGGCCGCCACCACCAG	0.542			T	EVI1	AML								A	128344441	G	A	128344441	3	1	20	1	0	0	0	0	1	0	0	0	13607	1087	38	1	504	1	RPN1	3	128344441	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	964670	128344441	69677989	395	18066											
IFT122	55764	broad.mit.edu	37	chr3	129231177	129231177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatccgttcagtgtccatcGtcctgaaactcttttcaaca	6	12	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:129231177G>A	uc003emm.2	+	24	3115	c.2909G>A	c.(2908-2910)CGT>CAT	p.R970H	IFT122_uc003eml.2_Missense_Mutation_p.R1021H|IFT122_uc003emn.2_Missense_Mutation_p.R911H|IFT122_uc003emo.2_Missense_Mutation_p.R860H|IFT122_uc003emp.2_Missense_Mutation_p.R820H|IFT122_uc010htc.2_Missense_Mutation_p.R963H|IFT122_uc011bky.1_Missense_Mutation_p.R761H|IFT122_uc003emq.2_Missense_Mutation_p.R810H|IFT122_uc003emr.2_Missense_Mutation_p.R723H|IFT122_uc011bla.1_Missense_Mutation_p.R744H|IFT122_uc010hte.2_Missense_Mutation_p.R296H|IFT122_uc003ems.2_Missense_Mutation_p.R352H|IFT122_uc011bkx.1_Missense_Mutation_p.R811H	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	970					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						AGTGTCCATCGTCCTGAAACT	0.517													A	129231177	G	A	129231177	3	1	20	1	0	0	0	0	1	0	0	0	7555	1145	40	1	3163	1	IFT122	3	129231177	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	886736	129231177	68791253	396	18067											
EPHB1	2047	broad.mit.edu	37	chr3	134920469	134920469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctggtgtgcaaggtgtccGactttggcctctcccgctac	11	14	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:134920469G>A	uc003eqt.2	+	12	2504	c.2284G>A	c.(2284-2286)GAC>AAC	p.D762N	EPHB1_uc003equ.2_Missense_Mutation_p.D323N	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	762	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						CAAGGTGTCCGACTTTGGCCT	0.537													A	134920469	G	A	134920469	3	1	20	1	0	0	0	0	1	0	0	0	5174	1058	37	1	2330	1	EPHB1	3	134920469	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	5689292	134920469	63101961	397	18068											
EPHB1	2047	broad.mit.edu	37	chr3	134967254	134967254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggactgttggcagaaggacCggaacagccggccccggttt	15	11	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:134967254C>T	uc003eqt.2	+	14	2813	c.2593C>T	c.(2593-2595)CGG>TGG	p.R865W	EPHB1_uc003equ.2_Missense_Mutation_p.R426W	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	865	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						GCAGAAGGACCGGAACAGCCG	0.592													T	134967254	C	T	134967254	3	4	20	1	0	0	0	0	1	0	0	0	5174	643	23	1	2647	1	EPHB1	3	134967254	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	46785	134967254	63055176	398	18069											
ATP1B3	483	broad.mit.edu	37	chr3	141622486	141622486	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcttgctcttctacctagTtttttatgggttcctggctg	9	9	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:141622486T>C	uc003eug.1	+	2	308	c.134T>C	c.(133-135)GTT>GCT	p.V45A	ATP1B3_uc011bne.1_RNA|ATP1B3_uc003euh.1_Missense_Mutation_p.V31A	NM_001679	NP_001670	P54709	AT1B3_HUMAN	Na+/K+ -ATPase beta 3 subunit	45	Helical; Signal-anchor for type II membrane protein; (Potential).				ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity				0						TTCTACCTAGTTTTTTATGGG	0.418													C	141622486	T	C	141622486	3	2	20	1	0	0	0	0	1	0	0	0	1134	1725	60	3	140	3	ATP1B3	3	141622486	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	6655232	141622486	56399944	399	18070											
PLSCR1	5359	broad.mit.edu	37	chr3	146246494	146246494	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctccaactggctgattataTactggctgattatacactgg	9	9	0	2	rs147509085	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:146246494T>C	uc003evx.3	-	4	607	c.219A>G	c.(217-219)GTA>GTG	p.V73V	PLSCR1_uc003evy.3_Silent_p.V66V|PLSCR1_uc011bnn.1_Intron|PLSCR1_uc003evz.3_Intron|PLSCR1_uc003ewa.2_Silent_p.V73V	NM_021105	NP_066928	O15162	PLS1_HUMAN	phospholipid scramblase 1	73	Cytoplasmic.				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			ovary(2)	2						GCTGATTATATACTGGCTGAT	0.537													C	146246494	T	C	146246494	2	2	20	1	0	0	0	0	0	0	0	1	12109	1393	49	3		3	PLSCR1	3	146246494	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	4624008	146246494	51775936	400	18071											
ZIC4	84107	broad.mit.edu	37	chr3	147108745	147108745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagtcggcggtacgcgccGccaccgccgccgaggaggcc	15	17	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:147108745G>A	uc003ewd.1	-	4	1250	c.977C>T	c.(976-978)GCG>GTG	p.A326V	ZIC4_uc003ewc.1_Missense_Mutation_p.A256V|ZIC4_uc011bno.1_Missense_Mutation_p.A376V	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	326						nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						GGTACGCGCCGCCACCGCCGC	0.706													A	147108745	G	A	147108745	3	1	20	1	0	0	0	0	1	0	0	0	17678	1087	38	1	35	1	ZIC4	3	147108745	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	862251	147108745	50913685	401	18072											
MED12L	116931	broad.mit.edu	37	chr3	151082912	151082912	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcaatgctgggcaagatcCtcagtgacaatgcggccaat	10	11	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:151082912C>A	uc003eyp.2	+	20	3036	c.2998C>A	c.(2998-3000)CTC>ATC	p.L1000I	MED12L_uc011bnz.1_Missense_Mutation_p.L860I|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.L163I	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1000					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGGCAAGATCCTCAGTGACAA	0.493													A	151082912	C	A	151082912	3	1	20	1	0	0	0	0	1	0	0	0	9429	681	24	5	3076	5	MED12L	3	151082912	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	3974167	151082912	46939518	402	18073											
PLCH1	23007	broad.mit.edu	37	chr3	155210547	155210547	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atctccaaacatggagtctgGaggtttggggagttgctgtc	14	7	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:155210547G>C	uc011bok.1	-	17	2519	c.2242C>G	c.(2242-2244)CCA>GCA	p.P748A	PLCH1_uc011boj.1_Missense_Mutation_p.P748A|PLCH1_uc011bol.1_Missense_Mutation_p.P730A	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	748	C2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATGGAGTCTGGAGGTTTGGGG	0.453													C	155210547	G	C	155210547	3	2	20	1	0	0	0	0	1	0	0	0	12037	1174	41	5	2882	5	PLCH1	3	155210547	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	4127635	155210547	42811883	403	18074											
VEPH1	79674	broad.mit.edu	37	chr3	157004431	157004431	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacacgtcaaagaacctcacTtcttccagatggagctgtac	7	12	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:157004431T>G	uc003fbj.1	-	12	2360	c.2043A>C	c.(2041-2043)GAA>GAC	p.E681D	VEPH1_uc003fbk.1_Missense_Mutation_p.E681D|VEPH1_uc010hvu.1_Missense_Mutation_p.E636D	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	681						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGAACCTCACTTCTTCCAGAT	0.483													G	157004431	T	G	157004431	3	3	20	1	0	0	0	0	1	0	0	0	17151	1606	56	5	470	5	VEPH1	3	157004431	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1793884	157004431	41017999	404	18075											
SMC4	10051	broad.mit.edu	37	chr3	160135634	160135634	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atactgcagtgtctcaattaActaaggctaaggaagctcta	8	8	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:160135634A>G	uc003fdh.2	+	11	1674	c.1561A>G	c.(1561-1563)ACT>GCT	p.T521A	IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.T285A|SMC4_uc003fdi.2_Missense_Mutation_p.T496A|SMC4_uc003fdj.2_Missense_Mutation_p.T521A|SMC4_uc010hwd.2_Missense_Mutation_p.T521A|SMC4_uc003fdl.2_Missense_Mutation_p.T224A	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	521	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTCTCAATTAACTAAGGCTAA	0.398													G	160135634	A	G	160135634	3	3	20	1	0	0	0	0	1	0	0	0	14785	43	2	3	1599	3	SMC4	3	160135634	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	3131203	160135634	37886796	405	18076											
B3GALNT1	8706	broad.mit.edu	37	chr3	160803879	160803879	+	Frame_Shift_Del	DEL	T	T	-													ctcctggtaagaaatatgggTtttttggtaaaatcctctat							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:160803878_160803878GT>G	uc003fdv.3	-	4	1084	c.665_665AC>C	c.(664-666)accfs	p.T222fs	B3GALNT1_uc003fdw.3_Frame_Shift_Del_p.T222fs|B3GALNT1_uc003fdx.3_Frame_Shift_Del_p.T222fs|B3GALNT1_uc003fdy.3_Frame_Shift_Del_p.T222fs|B3GALNT1_uc003fdz.3_Frame_Shift_Del_p.T222fs|B3GALNT1_uc003fea.3_Frame_Shift_Del_p.T222fs|B3GALNT1_uc011bpa.2_Intron|B3GALNT1_uc021xgw.1_Frame_Shift_Del_p.T222fs	NM_033169	NP_149359	O75752	B3GL1_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA.	222					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity	p.T222fs*23(1)		breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			AGAAATATGGGTTTTTTGGTA	0.358													-	160803879	T	-	160803879	7	5	20	1	0	1	0	1	0	0	0	0	1245	1725	60	0	335	0	B3GALNT1	3	160803879	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	668245	160803879	37218551	406	18077											
GOLIM4	27333	broad.mit.edu	37	chr3	167745560	167745560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctcggggtccttgttcacGaggctcatgtctattacctg	10	11	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:167745560G>A	uc003ffe.2	-	12	1923	c.1579C>T	c.(1579-1581)CGT>TGT	p.R527C	GOLIM4_uc011bpe.1_Missense_Mutation_p.R528C|GOLIM4_uc011bpf.1_Missense_Mutation_p.R500C|GOLIM4_uc011bpg.1_Missense_Mutation_p.R499C	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	527	Glu-rich.|Lumenal (Potential).				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)|skin(1)	5						CCTTGTTCACGAGGCTCATGT	0.463													A	167745560	G	A	167745560	3	1	20	1	0	0	0	0	1	0	0	0	6566	1058	37	1	531	1	GOLIM4	3	167745560	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	6941681	167745560	30276870	407	18078											
MYNN	55892	broad.mit.edu	37	chr3	169504444	169504444	+	Frame_Shift_Del	DEL	T	T	-													gtattcagaaccacagttgaTttttttacaacaattatact							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:169504443_169504443AT>A	uc003ffu.3	+	8	2306	c.1810_1810AT>A	c.(1810-1812)attfs	p.I604fs	MYNN_uc011bpm.2_Frame_Shift_Del_p.I490fs|MYNN_uc003fft.3_Frame_Shift_Del_p.I604fs|MYNN_uc003ffv.3_Frame_Shift_Del_p.I331fs|MYNN_uc010hwo.3_Frame_Shift_Del_p.I575fs	NM_001185118	NP_061127	Q9NPC7	MYNN_HUMAN	Homo sapiens myoneurin (MYNN), transcript variant 2, mRNA.	604						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ACCACAGTTGATTTTTTTACA	0.368													-	169504444	T	-	169504444	7	5	20	1	0	1	0	1	0	0	0	0	10061	1493	52	0	1837	0	MYNN	3	169504444	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	1758884	169504444	28517986	408	18079											
LRRC31	79782	broad.mit.edu	37	chr3	169572672	169572672	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgtagatgctttagcatgAccaactgagccggcgagtct	11	10	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:169572672A>G	uc003fgc.1	-	6	997	c.920T>C	c.(919-921)GTC>GCC	p.V307A	LRRC31_uc010hwp.1_Missense_Mutation_p.V251A	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	307										ovary(2)|skin(1)	3	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CTTTAGCATGACCAACTGAGC	0.438													G	169572672	A	G	169572672	3	3	20	1	0	0	0	0	1	0	0	0	8986	275	10	3	754	3	LRRC31	3	169572672	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	68228	169572672	28449758	409	18080											
CLDN11	5010	broad.mit.edu	37	chr3	170140971	170140971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacgtgcaggcctgccgcGccctgatgattgctgcctcg	13	15	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:170140971G>A	uc003fgx.2	+	2	449	c.247G>A	c.(247-249)GCC>ACC	p.A83T	CLDN11_uc011bpt.1_Missense_Mutation_p.A83T|CLDN11_uc003fgy.2_5'UTR	NM_005602	NP_005593	O75508	CLD11_HUMAN	claudin 11	83	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(1)	1	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GGCCTGCCGCGCCCTGATGAT	0.597													A	170140971	G	A	170140971	3	1	20	1	0	0	0	0	1	0	0	0	3473	1087	38	1	253	1	CLDN11	3	170140971	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	568299	170140971	27881459	410	18081											
NLGN1	22871	broad.mit.edu	37	chr3	173322759	173322759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccagaatatcattgatgGcagattgccagaagtcatgc	9	10	2	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:173322759G>A	uc003fio.1	+	3	794	c.371G>A	c.(370-372)GGC>GAC	p.G124D	NLGN1_uc010hww.1_Missense_Mutation_p.G124D|NLGN1_uc003fip.1_Missense_Mutation_p.G124D	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	124	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATCATTGATGGCAGATTGCCA	0.448													A	173322759	G	A	173322759	3	1	20	1	0	0	0	0	1	0	0	0	10461	1203	42	2	373	2	NLGN1	3	173322759	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3181788	173322759	24699671	411	18082											
FXR1	8087	broad.mit.edu	37	chr3	180688129	180688129	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaatctgatacagcttcagTtaatgaaaatgggctaggta	10	5	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:180688129T>C	uc003fkq.2	+	15	1608	c.1586T>C	c.(1585-1587)GTT>GCT	p.V529A	FXR1_uc003fkp.2_Missense_Mutation_p.V444A|FXR1_uc003fkr.2_Missense_Mutation_p.V529A|FXR1_uc011bqj.1_Missense_Mutation_p.V443A|FXR1_uc003fks.2_Missense_Mutation_p.V472A|FXR1_uc011bqk.1_Missense_Mutation_p.V480A|FXR1_uc011bql.1_Missense_Mutation_p.V516A	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	529					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			ACAGCTTCAGTTAATGAAAAT	0.333													C	180688129	T	C	180688129	3	2	20	1	0	0	0	0	1	0	0	0	6115	1725	60	3	1644	3	FXR1	3	180688129	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	7365370	180688129	17334301	412	18083											
YEATS2	55689	broad.mit.edu	37	chr3	183521871	183521871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcaaaaccaagcacatcGctcactggtgccgctgtcat	7	16	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:183521871G>A	uc003fly.2	+	27	3874	c.3679G>A	c.(3679-3681)GCT>ACT	p.A1227T	uc003fma.1_3'UTR	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1227					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CAAGCACATCGCTCACTGGTG	0.537													A	183521871	G	A	183521871	3	1	20	1	0	0	0	0	1	0	0	0	17469	1087	38	1	3781	1	YEATS2	3	183521871	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2833742	183521871	14500559	413	18084											
ECE2	9718	broad.mit.edu	37	chr3	184008885	184008885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcagaatgagtccctggCagccttccggaaccacacgg	13	13	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:184008885C>T	uc003fni.3	+	17	2284	c.2246C>T	c.(2245-2247)GCA>GTA	p.A749V	ECE2_uc011brh.1_Missense_Mutation_p.A602V|ECE2_uc003fnl.3_Missense_Mutation_p.A677V|ECE2_uc003fnm.3_Missense_Mutation_p.A631V|ECE2_uc003fnk.3_Missense_Mutation_p.A602V|ECE2_uc011bri.1_Missense_Mutation_p.A664V|ECE2_uc010hxv.2_3'UTR	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	749	Lumenal (Potential).|Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGTCCCTGGCAGCCTTCCGG	0.587													T	184008885	C	T	184008885	3	4	20	1	0	0	0	0	1	0	0	0	4890	710	25	2	2876	2	ECE2	3	184008885	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	487014	184008885	14013545	414	18085											
PSMD2	5708	broad.mit.edu	37	chr3	184022156	184022156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgctgctgcctgtgatgGgagattcaaagtccagcatg	12	10	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:184022156G>A	uc003fnn.1	+	12	1549	c.1516G>A	c.(1516-1518)GGA>AGA	p.G506R	PSMD2_uc011brj.1_Missense_Mutation_p.G347R|PSMD2_uc011brk.1_Missense_Mutation_p.G376R	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	506	PC 3.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GCCTGTGATGGGAGATTCAAA	0.458													A	184022156	G	A	184022156	3	1	20	1	0	0	0	0	1	0	0	0	12698	1233	43	4	1562	4	PSMD2	3	184022156	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	13271	184022156	14000274	415	18086											
PSMD2	5708	broad.mit.edu	37	chr3	184025433	184025433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgtctggctgcaatgctGcgccagttagctcaatatca	10	13	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:184025433G>A	uc003fnn.1	+	18	2268	c.2235G>A	c.(2233-2235)CTG>CTA	p.L745L	PSMD2_uc011brj.1_Silent_p.L586L|PSMD2_uc011brk.1_Silent_p.L615L	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	745	PC 7.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CTGCAATGCTGCGCCAGTTAG	0.483													A	184025433	G	A	184025433	2	1	20	1	0	0	0	0	0	0	0	1	12698	1306	46	2		2	PSMD2	3	184025433	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3277	184025433	13996997	416	18087											
EIF4G1	1981	broad.mit.edu	37	chr3	184040475	184040475	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagacaaaattcacaatgcTgagaacatccagcccgggga	10	10	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:184040475T>C	uc003fnp.2	+	12	1950	c.1752T>C	c.(1750-1752)GCT>GCC	p.A584A	EIF4G1_uc003fno.1_Silent_p.A525A|EIF4G1_uc010hxw.1_Silent_p.A420A|EIF4G1_uc003fnt.2_Silent_p.A295A|EIF4G1_uc003fnq.2_Silent_p.A497A|EIF4G1_uc003fnr.2_Silent_p.A420A|EIF4G1_uc010hxx.2_Silent_p.A591A|EIF4G1_uc003fns.2_Silent_p.A544A|EIF4G1_uc010hxy.2_Silent_p.A591A|EIF4G1_uc003fnv.3_Silent_p.A584A|EIF4G1_uc003fnu.3_Silent_p.A584A|EIF4G1_uc003fnw.2_Silent_p.A591A|EIF4G1_uc003fnx.2_Silent_p.A388A|EIF4G1_uc003fny.3_Silent_p.A388A	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	584	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCACAATGCTGAGAACATCC	0.507													C	184040475	T	C	184040475	2	2	20	1	0	0	0	0	0	0	0	1	5036	1567	55	3		3	EIF4G1	3	184040475	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	15042	184040475	13981955	417	18088											
EPHB3	2049	broad.mit.edu	37	chr3	184298195	184298195	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttgttgcctgcagctcaaCgatgggcagttcacggtcat	12	11	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:184298195C>A	uc003foz.2	+	12	2615	c.2178C>A	c.(2176-2178)AAC>AAA	p.N726K		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	726	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TGCAGCTCAACGATGGGCAGT	0.602													A	184298195	C	A	184298195	3	1	20	1	0	0	0	0	1	0	0	0	5176	535	19	5	2224	5	EPHB3	3	184298195	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	257720	184298195	13724235	418	18089											
VPS8	23355	broad.mit.edu	37	chr3	184542471	184542471	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaacagagcctctgtgccaaGacgagcgaagaagagctgaa	13	9	1	5			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:184542471G>T	uc003fpb.1	+	2	222	c.51G>T	c.(49-51)AAG>AAT	p.K17N	VPS8_uc010hyd.1_Missense_Mutation_p.K17N|VPS8_uc003fpc.1_Missense_Mutation_p.K17N	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	17							zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TCTGTGCCAAGACGAGCGAAG	0.363													T	184542471	G	T	184542471	3	4	20	1	0	0	0	0	1	0	0	0	17215	933	33	5	53	5	VPS8	3	184542471	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	244276	184542471	13479959	419	18090											
VPS8	23355	broad.mit.edu	37	chr3	184717545	184717545	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgcactgtggaatttgagGgccaaacaagatggacatgc	12	7	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:184717545G>T	uc003fpb.1	+	44	4063	c.3892G>T	c.(3892-3894)GGC>TGC	p.G1298C	VPS8_uc010hyd.1_Missense_Mutation_p.G1208C|VPS8_uc010hye.1_Missense_Mutation_p.G727C	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	1300	RING-type; atypical.						zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GGAATTTGAGGGCCAAACAAG	0.378													T	184717545	G	T	184717545	3	4	20	1	0	0	0	0	1	0	0	0	17215	1232	43	5	4068	5	VPS8	3	184717545	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	175074	184717545	13304885	420	18091											
C3orf70	285382	broad.mit.edu	37	chr3	184801181	184801181	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtctgaaatcatacagtAcctcggtgagtcagggggaa	13	7	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:184801181A>G	uc003fpd.2	-	2	558	c.367T>C	c.(367-369)TAC>CAC	p.Y123H		NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN	hypothetical protein LOC285382	123											0						ATCATACAGTACCTCGGTGAG	0.458													G	184801181	A	G	184801181	3	3	20	1	0	0	0	0	1	0	0	0	2242	391	14	3	389	3	C3orf70	3	184801181	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	83636	184801181	13221249	421	18092											
BCL6	604	broad.mit.edu	37	chr3	187451439	187451439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgagaagaacatcactggCatggcgggtgaactggatac	14	7	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:187451439C>T	uc003frp.3	-	3	500	c.43G>A	c.(43-45)GCC>ACC	p.A15T	BCL6_uc011bsf.1_Missense_Mutation_p.A15T|BCL6_uc010hza.2_5'UTR|BCL6_uc003frq.1_Missense_Mutation_p.A15T	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	15					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ACATCACTGGCATGGCGGGTG	0.483			T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL								T	187451439	C	T	187451439	3	4	20	1	0	0	0	0	1	0	0	0	1376	710	25	2	2109	2	BCL6	3	187451439	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2650258	187451439	10570991	422	18093											
ATP13A5	344905	broad.mit.edu	37	chr3	193048947	193048947	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtttatttgcccacacaTgttgattctctgtggggaga	12	7	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:193048947T>G	uc011bsq.1	-	12	1426	c.1426A>C	c.(1426-1428)ATG>CTG	p.M476L		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	476					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGCCCACACATGTTGATTCTC	0.378													G	193048947	T	G	193048947	3	3	20	1	0	0	0	0	1	0	0	0	1127	1464	51	5	2304	5	ATP13A5	3	193048947	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	5597508	193048947	4973483	423	18094											
OPA1	4976	broad.mit.edu	37	chr3	193361319	193361319	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaacctttttctttaagacTgtgacatcaggcatggctcc	7	10	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:193361319T>C	uc003ftm.2	+	13	1449	c.1215T>C	c.(1213-1215)ACT>ACC	p.T405T	OPA1_uc003ftg.2_Silent_p.T460T|OPA1_uc003fth.2_Silent_p.T424T|OPA1_uc003fti.2_Silent_p.T442T|OPA1_uc003ftj.2_Silent_p.T423T|OPA1_uc003ftk.2_Silent_p.T406T|OPA1_uc003ftl.2_Silent_p.T387T|OPA1_uc003ftn.2_Silent_p.T369T	NM_015560	NP_056375	O60313	OPA1_HUMAN	optic atrophy 1 isoform 1	405	Mitochondrial intermembrane (By similarity).				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding				0	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TCTTTAAGACTGTGACATCAG	0.323													C	193361319	T	C	193361319	2	2	20	1	0	0	0	0	0	0	0	1	10871	1567	55	3		3	OPA1	3	193361319	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	312372	193361319	4661111	424	18095											
CPN2	1370	broad.mit.edu	37	chr3	194063301	194063301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatatggcgggatgtccagtGggacggtggcaagctcctca	15	9	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:194063301G>A	uc003fts.2	-	2	221	c.131C>T	c.(130-132)CCA>CTA	p.P44L		NM_001080513	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	44	LRRNT.				protein stabilization	extracellular region	enzyme regulator activity			ovary(5)	5	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GATGTCCAGTGGGACGGTGGC	0.557													A	194063301	G	A	194063301	3	1	20	1	0	0	0	0	1	0	0	0	3810	1348	47	4	1510	4	CPN2	3	194063301	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	701982	194063301	3959129	425	18096											
TCTEX1D2	255758	broad.mit.edu	37	chr3	196018210	196018210	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agattcattcagtagtagaaAcagccaaatgctgctacaac	7	9	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:196018210A>G	uc003fwi.2	-	5	553	c.417T>C	c.(415-417)TGT>TGC	p.C139C		NM_152773	NP_689986	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	139							protein binding			ovary(1)|breast(1)	2	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		AGTAGTAGAAACAGCCAAATG	0.328													G	196018210	A	G	196018210	2	3	20	1	0	0	0	0	0	0	0	1	15717	41	2	3		3	TCTEX1D2	3	196018210	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1954909	196018210	2004220	426	18097											
GAK	2580	broad.mit.edu	37	chr4	876506	876506	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcagtgcacgacgcagacGttcttgtggtcctgccgcag	13	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:876506G>A	uc003gbm.3	-	14	1705	c.1506C>T	c.(1504-1506)AAC>AAT	p.N502N	GAK_uc003gbn.3_Silent_p.N423N|GAK_uc010ibk.1_Silent_p.N396N|GAK_uc003gbl.3_Silent_p.N366N	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	502	Phosphatase tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		CGACGCAGACGTTCTTGTGGT	0.597													A	876506	G	A	876506	2	1	20	1	0	0	0	0	0	0	0	1	6195	1136	40	1		1	GAK	4	876506	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08		876506	190277770	427	18098											
TMEM175	84286	broad.mit.edu	37	chr4	951841	951841	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgggtggcctcccactaGcctaccagcagacctcggcc	11	17	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:951841G>T	uc003gbq.2	+	11	1170	c.1072G>T	c.(1072-1074)GCC>TCC	p.A358S	TMEM175_uc003gbr.2_Missense_Mutation_p.A276S|TMEM175_uc003gbu.2_Missense_Mutation_p.A276S|TMEM175_uc003gbs.2_Missense_Mutation_p.A241S|TMEM175_uc003gbt.2_Missense_Mutation_p.A241S|TMEM175_uc003gbv.2_Missense_Mutation_p.A241S|TMEM175_uc010ibm.2_Missense_Mutation_p.A174S	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	358	Helical; (Potential).					integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCTCCCACTAGCCTACCAGCA	0.662													T	951841	G	T	951841	3	4	20	1	0	0	0	0	1	0	0	0	16088	971	34	5	1110	5	TMEM175	4	951841	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	75335	951841	190202435	428	18099											
LETM1	3954	broad.mit.edu	37	chr4	1818606	1818606	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccacgtacttttcttcaccAgtctttgaaagttccttctt	4	12	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:1818606A>C	uc003gdv.2	-	12	2076	c.1779T>G	c.(1777-1779)ACT>ACG	p.T593T		NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	593	Mitochondrial matrix (Potential).|Potential.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TTTCTTCACCAGTCTTTGAAA	0.368													C	1818606	A	C	1818606	2	2	20	1	0	0	0	0	0	0	0	1	8734	175	7	5		5	LETM1	4	1818606	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	866765	1818606	189335670	429	18100											
WHSC1	7468	broad.mit.edu	37	chr4	1955098	1955098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcaagacagatgttaagCgctgtgtggtaactcagtgt	13	6	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:1955098C>T	uc003gdz.3	+	12	2361	c.2185C>T	c.(2185-2187)CGC>TGC	p.R729C	WHSC1_uc003geb.3_Missense_Mutation_p.R729C|WHSC1_uc003gec.3_Missense_Mutation_p.R729C|WHSC1_uc003ged.3_Missense_Mutation_p.R729C|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_5'UTR|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_Missense_Mutation_p.R77C	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	729	PHD-type 2.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGATGTTAAGCGCTGTGTGGT	0.438			T	IGH@	MM								T	1955098	C	T	1955098	3	4	20	1	0	0	0	0	1	0	0	0	17359	768	27	1	2303	1	WHSC1	4	1955098	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	136492	1955098	189199178	430	18101											
HTT	3064	broad.mit.edu	37	chr4	3107097	3107097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcagaatggtgcccctcGgagtttgcgtgctgccctgt	12	14	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:3107097G>A	uc011bvq.1	+	6	693	c.548G>A	c.(547-549)CGG>CAG	p.R183Q		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	181					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGTGCCCCTCGGAGTTTGCGT	0.502													A	3107097	G	A	3107097	3	1	20	1	0	0	0	0	1	0	0	0	7457	1116	39	1	560	1	HTT	4	3107097	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1151999	3107097	188047179	431	18102											
EVC	2121	broad.mit.edu	37	chr4	5754612	5754612	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacatggcaaaagtgattgAgtttctgaagctgcaagtcc	11	8	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:5754612A>G	uc003gil.1	+	9	1332	c.1148A>G	c.(1147-1149)GAG>GGG	p.E383G	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	383					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				AAAGTGATTGAGTTTCTGAAG	0.622													G	5754612	A	G	5754612	3	3	20	1	0	0	0	0	1	0	0	0	5285	304	11	3	1182	3	EVC	4	5754612	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2647515	5754612	185399664	432	18103											
CRMP1	1400	broad.mit.edu	37	chr4	5837754	5837754	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtacaggttaaagatcTtggctgcattggtgctggtg	15	5	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:5837754T>G	uc003gip.2	-	12	1270	c.1169A>C	c.(1168-1170)AAG>ACG	p.K390T	CRMP1_uc003gin.1_Missense_Mutation_p.K302T|CRMP1_uc003giq.2_Missense_Mutation_p.K390T|CRMP1_uc003gir.2_Missense_Mutation_p.K385T|CRMP1_uc003gis.2_Missense_Mutation_p.K504T	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	390					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		GTTAAAGATCTTGGCTGCATT	0.522													G	5837754	T	G	5837754	3	3	20	1	0	0	0	0	1	0	0	0	3890	1609	56	5	565	5	CRMP1	4	5837754	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	83142	5837754	185316522	433	18104											
CRMP1	1400	broad.mit.edu	37	chr4	5838618	5838618	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggacagtggccgctgcctgtGacctgcaagtccccactggc	13	15	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:5838618G>A	uc003gip.2	-	11	1085	c.984C>T	c.(982-984)GTC>GTT	p.V328V	CRMP1_uc003gin.1_Silent_p.V240V|CRMP1_uc003giq.2_Silent_p.V328V|CRMP1_uc003gir.2_Silent_p.V323V|CRMP1_uc003gis.2_Silent_p.V442V	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	328					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		CGCTGCCTGTGACCTGCAAGT	0.552													A	5838618	G	A	5838618	2	1	20	1	0	0	0	0	0	0	0	1	3890	1277	45	4		4	CRMP1	4	5838618	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	864	5838618	185315658	434	18105											
SORCS2	57537	broad.mit.edu	37	chr4	7715973	7715973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcctgctgcagggcgacCgctgtatcatgggccagcag	14	12	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:7715973C>T	uc003gkb.3	+	16	1996	c.1996C>T	c.(1996-1998)CGC>TGC	p.R666C	SORCS2_uc011bwi.1_Missense_Mutation_p.R494C	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor	666	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2						GCAGGGCGACCGCTGTATCAT	0.602													T	7715973	C	T	7715973	3	4	20	1	0	0	0	0	1	0	0	0	14931	652	23	1	2058	1	SORCS2	4	7715973	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1877355	7715973	183438303	435	18106											
BOD1L	259282	broad.mit.edu	37	chr4	13597501	13597501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacctattccacttggctttCccccacacagactttctggt	5	16	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:13597501C>T	uc003gmz.1	-	12	8204	c.8087G>A	c.(8086-8088)GGA>GAA	p.G2696E		NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2696							DNA binding			ovary(5)|breast(1)	6						ACTTGGCTTTCCCCCACACAG	0.378													T	13597501	C	T	13597501	3	4	20	1	0	0	0	0	1	0	0	0	1483	855	30	4	1128	4	BOD1L	4	13597501	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	5881528	13597501	177556775	436	18107											
BOD1L	259282	broad.mit.edu	37	chr4	13603668	13603668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctcagattcagccacaGcacactccccactttcccct	4	19	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:13603668G>A	uc003gmz.1	-	10	4973	c.4856C>T	c.(4855-4857)GCT>GTT	p.A1619V	BOD1L_uc010idr.1_Missense_Mutation_p.A956V	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1619							DNA binding			ovary(5)|breast(1)	6						TTCAGCCACAGCACACTCCCC	0.488													A	13603668	G	A	13603668	3	1	20	1	0	0	0	0	1	0	0	0	1483	971	34	2	4367	2	BOD1L	4	13603668	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	6167	13603668	177550608	437	18108											
PACRGL	133015	broad.mit.edu	37	chr4	20709442	20709442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttagtttggtgaacagtcacGagtgccttctgcatttgcag	11	8	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:20709442G>A	uc010iek.2	+	4	615	c.224G>A	c.(223-225)CGA>CAA	p.R75Q	PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Missense_Mutation_p.R123Q|PACRGL_uc003gpz.2_Missense_Mutation_p.R75Q|PACRGL_uc011bxm.1_Intron|PACRGL_uc003gqa.2_Intron|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Missense_Mutation_p.R75Q|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_Intron|PACRGL_uc011bxn.1_Intron|PACRGL_uc003gpy.2_Intron	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like isoform 1	75							binding				0						GAACAGTCACGAGTGCCTTCT	0.348													A	20709442	G	A	20709442	3	1	20	1	0	0	0	0	1	0	0	0	11371	1058	37	1	234	1	PACRGL	4	20709442	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	7105774	20709442	170444834	438	18109											
GPR125	166647	broad.mit.edu	37	chr4	22390136	22390136	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgatccacgcaagtctaAcatcctccctattaacacaa	3	14	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:22390136A>C	uc003gqm.1	-	19	3423	c.3158T>G	c.(3157-3159)GTT>GGT	p.V1053G	GPR125_uc010ieo.1_Missense_Mutation_p.V909G|GPR125_uc003gql.1_Missense_Mutation_p.V180G	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	1053	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				CGCAAGTCTAACATCCTCCCT	0.488													C	22390136	A	C	22390136	3	2	20	1	0	0	0	0	1	0	0	0	6639	43	2	5	811	5	GPR125	4	22390136	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1680694	22390136	168764140	439	18110											
DHX15	1665	broad.mit.edu	37	chr4	24541776	24541776	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacctcattagaacagttgtAgtcacaacttgcaataacca	6	10	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:24541776A>G	uc003gqx.2	-	10	1909	c.1741T>C	c.(1741-1743)TAC>CAC	p.Y581H	DHX15_uc003gqw.2_5'Flank	NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	581					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)				GAACAGTTGTAGTCACAACTT	0.408													G	24541776	A	G	24541776	3	3	20	1	0	0	0	0	1	0	0	0	4501	420	15	3	666	3	DHX15	4	24541776	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2151640	24541776	166612500	440	18111											
CCDC149	91050	broad.mit.edu	37	chr4	24854802	24854802	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatagttgtgcaagattagcCtagaaatatcaacacattat	6	6	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:24854802C>A	uc011bxr.1	-	5	409	c.265_splice	c.e5-1	p.A89_splice	CCDC149_uc003grc.2_Splice_Site_p.A89_splice|CCDC149_uc003grb.2_Splice_Site|CCDC149_uc003grd.2_Splice_Site_p.A89_splice|CCDC149_uc003gre.2_Splice_Site_p.A34_splice|CCDC149_uc011bxq.1_Translation_Start_Site	NM_173463	NP_775734	B4DZG3	B4DZG3_HUMAN	coiled-coil domain containing 149 isoform 1												0		Breast(46;0.173)				CAAGATTAGCCTAGAAATATC	0.428													A	24854802	C	A	24854802	5	1	20	1	0	0	0	0	0	0	1	0	2783	695	24	5	1365	5	CCDC149	4	24854802	Splice_Site	SNP	C	TCGA-BR-4362-01A-01D-1158-08	313026	24854802	166299474	441	18112											
ARAP2	116984	broad.mit.edu	37	chr4	36134893	36134893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgttcactataatgggaaCgtcatttttgctgagctgct	10	8	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:36134893C>T	uc003gsq.1	-	20	3720	c.3382G>A	c.(3382-3384)GTT>ATT	p.V1128I		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1128	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						ATAATGGGAACGTCATTTTTG	0.383													T	36134893	C	T	36134893	3	4	20	1	0	0	0	0	1	0	0	0	839	536	19	1	1788	1	ARAP2	4	36134893	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	11280091	36134893	155019383	442	18113											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984913	41984913	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacattcccagcgtggccttCgcttctcggctcgggggcat	13	14	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:41984913C>T	uc003gwk.2	+	1	1201	c.1104C>T	c.(1102-1104)TTC>TTT	p.F368F		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	WD repeat domain 21B	368										skin(1)	1						GCGTGGCCTTCGCTTCTCGGC	0.607													T	41984913	C	T	41984913	2	4	20	1	0	0	0	0	0	0	0	1	4271	883	31	1		1	DCAF4L1	4	41984913	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	5850020	41984913	149169363	443	18114											
CORIN	10699	broad.mit.edu	37	chr4	47597894	47597894	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccgtcctccaggcttctcAcaaacaagaggcccaccgct	7	18	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:47597894A>G	uc003gxm.2	-	22	3066	c.2973T>C	c.(2971-2973)TGT>TGC	p.C991C	CORIN_uc011bzf.1_Silent_p.C852C|CORIN_uc011bzg.1_Silent_p.C924C	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	991	Extracellular (Potential).|Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2						CAGGCTTCTCACAAACAAGAG	0.493													G	47597894	A	G	47597894	2	3	20	1	0	0	0	0	0	0	0	1	3752	157	6	3		3	CORIN	4	47597894	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	5612981	47597894	143556382	444	18115											
FRYL	285527	broad.mit.edu	37	chr4	48625144	48625144	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcccaaaattgtcataccTgatcaaactgaagatcttca	4	11	5	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:48625144T>C	uc003gyh.1	-	5	778	c.173A>G	c.(172-174)CAG>CGG	p.Q58R	FRYL_uc003gyk.2_Missense_Mutation_p.Q58R|FRYL_uc003gyl.1_Missense_Mutation_p.Q109R|FRYL_uc003gym.1_Missense_Mutation_p.Q58R	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						TTGTCATACCTGATCAAACTG	0.313													C	48625144	T	C	48625144	3	2	20	1	0	0	0	0	1	0	0	0	6064	1594	55	3	9108	3	FRYL	4	48625144	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1027250	48625144	142529132	445	18116											
OCIAD1	54940	broad.mit.edu	37	chr4	48859372	48859373	+	Frame_Shift_Ins	INS	-	-	A													ctatgcatgaaagagtgccaINSaaaaaagaaggtatgatagt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:48859371_48859372C>CA	uc010igk.3	+	7	920_921	c.704_705C>CA	c.(703-705)ccafs	p.P235fs	OCIAD1_uc003gyo.3_Frame_Shift_Ins_p.P230fs|OCIAD1_uc003gyq.3_Intron|OCIAD1_uc003gyp.3_Intron|OCIAD1_uc003gyr.3_Frame_Shift_Ins_p.P230fs|OCIAD1_uc021xoc.1_Intron	NM_001168254	NP_001161726	Q9NX40	OCAD1_HUMAN	Homo sapiens OCIA domain containing 1 (OCIAD1), transcript variant 6, mRNA.	230						endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						GAAAGAGTGCCAAAAAAAGAAG	0.302													A	48859373	-	A	48859372	7	5	20	1	0	1	1	0	0	0	0	0	10817	117	5	0	752	0	OCIAD1	4	48859372	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	234228	48859372	142294904	446	18117											
OCIAD2	132299	broad.mit.edu	37	chr4	48894833	48894833	+	Frame_Shift_Del	DEL	A	A	-													gccccacggagctgatcttcAaaaaaatggaatttactctg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:48894832_48894832CA>C	uc003gyt.3	-	5	543	c.340_340TG>G	c.(340-342)gaafs	p.E114fs	OCIAD2_uc003gyu.3_Intron	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	Homo sapiens OCIA domain containing 2 (OCIAD2), transcript variant 1, mRNA.	114	OCIA.					endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						AGCTGATCTTCAAAAAAATGG	0.393													-	48894833	A	-	48894833	7	5	20	1	0	1	0	1	0	0	0	0	10818	127	5	0	133	0	OCIAD2	4	48894833	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	35461	48894833	142259443	447	18118											
PDGFRA	5156	broad.mit.edu	37	chr4	55129887	55129887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggattatttagtcatcgtgGaggatgatgattctgccatt	11	6	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:55129887G>A	uc003han.3	+	4	752	c.421G>A	c.(421-423)GAG>AAG	p.E141K	PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_Missense_Mutation_p.E141K|PDGFRA_uc010igq.1_Missense_Mutation_p.E35K|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	141	Extracellular (Potential).|Ig-like C2-type 2.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGTCATCGTGGAGGATGATGA	0.443			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			A	55129887	G	A	55129887	3	1	20	1	0	0	0	0	1	0	0	0	11661	1175	41	4	431	4	PDGFRA	4	55129887	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	6235054	55129887	136024389	448	18119											
PDGFRA	5156	broad.mit.edu	37	chr4	55139866	55139866	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctaagaatctccttggagcTgagaaccgagagctgaagct	12	9	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:55139866T>C	uc003han.3	+	10	1858	c.1527T>C	c.(1525-1527)GCT>GCC	p.A509A	PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Silent_p.A403A|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	509	Ig-like C2-type 5.|Extracellular (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.A509D(1)		soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TCCTTGGAGCTGAGAACCGAG	0.582			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			C	55139866	T	C	55139866	2	2	20	1	0	0	0	0	0	0	0	1	11661	1567	55	3		3	PDGFRA	4	55139866	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	9979	55139866	136014410	449	18120											
KIT	3815	broad.mit.edu	37	chr4	55603434	55603434	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	attgagaagcagatttcagaGagcaccaatcatgtgagtat	10	6	2	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:55603434G>C	uc010igr.2	+	20	2877	c.2790G>C	c.(2788-2790)GAG>GAC	p.E930D	KIT_uc010igs.2_Missense_Mutation_p.E926D	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	930	Protein kinase.|Cytoplasmic (Potential).				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGATTTCAGAGAGCACCAATC	0.478		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				C	55603434	G	C	55603434	3	2	20	1	0	0	0	0	1	0	0	0	8329	933	33	5	2868	5	KIT	4	55603434	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	463568	55603434	135550842	450	18121											
LPHN3	23284	broad.mit.edu	37	chr4	62761492	62761492	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgatggaatttgggaTccccaaggtccagatctcag	11	11	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:62761492T>C	uc010ihh.2	+	8	1796	c.1623T>C	c.(1621-1623)GAT>GAC	p.D541D	LPHN3_uc003hcq.3_Silent_p.D541D|LPHN3_uc003hcs.1_Silent_p.D370D	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	541	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						GAATTTGGGATCCCCAAGGTC	0.378													C	62761492	T	C	62761492	2	2	20	1	0	0	0	0	0	0	0	1	8917	1432	50	3		3	LPHN3	4	62761492	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	7158058	62761492	128392784	451	18122											
TECRL	253017	broad.mit.edu	37	chr4	65274999	65275000	+	Frame_Shift_Ins	INS	-	-	A													catatcatccttcagtatgaINSaccgtgtagctctttgggaa							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:65274998_65274999G>GA	uc003hcv.3	-	0	180_181	c.71_72C>TC	c.(70-72)ttcfs	p.F24fs	TECRL_uc003hcw.3_Frame_Shift_Ins_p.F24fs	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	24					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CCTTCAGTATGAACCGTGTAGC	0.436													A	65275000	-	A	65274999	7	5	20	1	0	1	1	0	0	0	0	0	15743	246	9	0	1068	0	TECRL	4	65274999	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	2513507	65274999	125879277	452	18123											
UGT2B10	7365	broad.mit.edu	37	chr4	69874783	69874784	+	Frame_Shift_Ins	INS	-	-	T													tgagttataaaagctctggtINSttttggatgacctaggattg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:69874782_69874783G>GT	uc011cao.1	-	6	1093_1094	c.967_968C>AC	c.(967-969)accfs	p.T323fs	UGT2B10_uc011can.1_Frame_Shift_Ins_p.T239fs			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	367					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AAAAGCTCTGGTTTTTGGATGA	0.386													T	69874784	-	T	69874783	7	5	20	1	0	1	1	0	0	0	0	0	16953	1725	60	0	2106	0	UGT2B10	4	69874783	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	4599784	69874783	121279493	453	18124											
C4orf40	401137	broad.mit.edu	37	chr4	71024227	71024227	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttctcctggattcccctaTgtctatcacatccgtggttt	6	13	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:71024227T>C	uc003hfa.3	+	4	331	c.258T>C	c.(256-258)TAT>TAC	p.Y86Y	C4orf40_uc003hfb.3_Silent_p.Y86Y	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	hypothetical protein LOC401137 precursor	86						extracellular region					0						GATTCCCCTATGTCTATCACA	0.483													C	71024227	T	C	71024227	2	2	20	1	0	0	0	0	0	0	0	1	2269	1471	51	3		3	C4orf40	4	71024227	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1149444	71024227	120130049	454	18125											
ANKRD17	26057	broad.mit.edu	37	chr4	73981636	73981636	+	Splice_Site	DEL	A	A	-													caccaccttcacatgaccctAaaaaatagatatcaatgtca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:73981635_73981635TA>T	uc003hgp.3	-	23	4306	c.4189_splice	c.e23-1	p.G1397_splice	ANKRD17_uc003hgo.3_Splice_Site_p.G1284_splice|ANKRD17_uc003hgq.3_Splice_Site_p.G1146_splice|ANKRD17_uc003hgr.3_Splice_Site_p.G1396_splice|ANKRD17_uc011cbd.1_Splice_Site_p.G962_splice	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1397					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CACATGACCCTAAAAAATAGA	0.358													-	73981636	A	-	73981636	8	5	20	1	0	1	0	1	0	0	1	0	646	377	13	0		0	ANKRD17	4	73981636	Splice_Site	DEL	A	TCGA-BR-4362-01A-01D-1158-08	2957409	73981636	117172640	455	18126											
BTC	685	broad.mit.edu	37	chr4	75681147	75681147	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtattgcttggggcacCtagagaagtggcctttccgc	13	10	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:75681147C>A	uc003hig.2	-	3	550	c.203G>T	c.(202-204)AGG>ATG	p.R68M		NM_001729	NP_001720	P35070	BTC_HUMAN	betacellulin precursor	68	Extracellular (Potential).|EGF-like.				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|skin(1)	2			Lung(101;0.219)			CTTGGGGCACCTAGAGAAGTG	0.458													A	75681147	C	A	75681147	3	1	20	1	0	0	0	0	1	0	0	0	1549	681	24	5	345	5	BTC	4	75681147	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1699511	75681147	115473129	456	18127											
SDAD1	55153	broad.mit.edu	37	chr4	76891521	76891521	+	Frame_Shift_Del	DEL	T	T	-													acacctctggttttttcttcTttttttgtttctgaaaggga							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:76891521delT	uc003hje.3	-	10	943	c.824delA	c.(823-825)AAGfs	p.K275fs	SDAD1_uc003hjf.3_Frame_Shift_Del_p.K178fs|SDAD1_uc011cbr.1_Frame_Shift_Del_p.K238fs	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	275	Potential.				protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			ovary(1)	1			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTTTTTCTTCTTTTTTTGTTT	0.373													-	76891521	T	-	76891521	7	5	20	1	0	1	0	1	0	0	0	0	13950	1609	56	0	1291	0	SDAD1	4	76891521	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	1210374	76891521	114262755	457	18128											
NAA11	84779	broad.mit.edu	37	chr4	80246728	80246728	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agacacgtatttggcgttaaAgttctctatcatggccctgg	10	9	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:80246728A>T	uc003hlt.3	-	1	444	c.304T>A	c.(304-306)TTT>ATT	p.F102I		NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	alpha-N-acetyltransferase 1B	102	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2						TTGGCGTTAAAGTTCTCTATC	0.552													T	80246728	A	T	80246728	3	4	20	1	0	0	0	0	1	0	0	0	10117	72	3	5	389	5	NAA11	4	80246728	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	3355207	80246728	110907548	458	18129											
FGF5	2250	broad.mit.edu	37	chr4	81196142	81196142	+	Frame_Shift_Del	DEL	A	A	-													aacaaatttttagcgatgtcAaaaaaaggaaaactccatgc					rs35667286		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:81196141_81196141CA>C	uc003hmd.3	+	1	671	c.434_434CA>C	c.(433-435)tcafs	p.S145fs	FGF5_uc003hme.3_Intron	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	145					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						TTAGCGATGTCAAAAAAAGGA	0.328													-	81196142	A	-	81196142	7	5	20	1	0	1	0	1	0	0	0	0	5855	117	5	0	441	0	FGF5	4	81196142	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	949414	81196142	109958134	459	18130											
WDFY3	23001	broad.mit.edu	37	chr4	85600249	85600249	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtcagagccactgtcagTacaccaggcggctgttgcgc	13	13	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:85600249T>C	uc003hpd.2	-	65	10378	c.9970A>G	c.(9970-9972)ACT>GCT	p.T3324A	WDFY3_uc003hpc.2_Missense_Mutation_p.T79A	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	3324						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCACTGTCAGTACACCAGGCG	0.602													C	85600249	T	C	85600249	3	2	20	1	0	0	0	0	1	0	0	0	17267	1638	57	3	626	3	WDFY3	4	85600249	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	4404107	85600249	105554027	460	18131											
PTPN13	5783	broad.mit.edu	37	chr4	87685814	87685814	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcttcatcacctcctaaGcctggagatatctttgaggt	7	10	4	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:87685814G>A	uc003hpz.2	+	25	4566	c.4086G>A	c.(4084-4086)AAG>AAA	p.K1362K	PTPN13_uc003hpy.2_Silent_p.K1362K|PTPN13_uc003hqa.2_Silent_p.K1343K|PTPN13_uc003hqb.2_Silent_p.K1171K	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1362				KP -> RS (in Ref. 5; CAA56124).		cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CACCTCCTAAGCCTGGAGATA	0.348													A	87685814	G	A	87685814	2	1	20	1	0	0	0	0	0	0	0	1	12782	962	34	2		2	PTPN13	4	87685814	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2085565	87685814	103468462	461	18132											
KLHL8	57563	broad.mit.edu	37	chr4	88116486	88116486	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaatctcaccttgagtgtgAcatcacagagttctccattt	7	11	3	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:88116486A>G	uc011cdb.1	-	2	591	c.206T>C	c.(205-207)GTC>GCC	p.V69A	KLHL8_uc003hql.1_Missense_Mutation_p.V69A|KLHL8_uc003hqm.1_Missense_Mutation_p.V69A|KLHL8_uc003hqn.1_Missense_Mutation_p.V69A|KLHL8_uc010ikj.1_5'UTR	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	kelch-like 8	69	BTB.										0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CTTGAGTGTGACATCACAGAG	0.368													G	88116486	A	G	88116486	3	3	20	1	0	0	0	0	1	0	0	0	8395	275	10	3	1692	3	KLHL8	4	88116486	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	430672	88116486	103037790	462	18133											
HERC5	51191	broad.mit.edu	37	chr4	89389505	89389505	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcctttcagaaagccatAcctcagaaaaggagttaata	7	9	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:89389505A>G	uc003hrt.2	+	8	1219	c.1066A>G	c.(1066-1068)ACC>GCC	p.T356A	HERC5_uc011cdm.1_Translation_Start_Site	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	356	RCC1 5.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AGAAAGCCATACCTCAGAAAA	0.348													G	89389505	A	G	89389505	3	3	20	1	0	0	0	0	1	0	0	0	7061	391	14	3	1096	3	HERC5	4	89389505	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1273019	89389505	101764771	463	18134											
UNC5C	8633	broad.mit.edu	37	chr4	96166150	96166150	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcataacgtagtacaggcTattttctgcacactctgccc	9	12	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:96166150T>C	uc003htp.1	-	6	1075	c.921A>G	c.(919-921)ATA>ATG	p.I307M	UNC5C_uc010ilc.1_Missense_Mutation_p.I307M|UNC5C_uc003htq.2_Missense_Mutation_p.I307M	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	307	Extracellular (Potential).|TSP type-1 1.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TAGTACAGGCTATTTTCTGCA	0.463													C	96166150	T	C	96166150	3	2	20	1	0	0	0	0	1	0	0	0	16990	1512	53	3	1918	3	UNC5C	4	96166150	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	6776645	96166150	94988126	464	18135											
ADH4	127	broad.mit.edu	37	chr4	100052797	100052797	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctttagccttcacaaacTtctcactgttgatgtcaata	7	10	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:100052797T>G	uc003hun.2	-	6	777	c.701A>C	c.(700-702)AAG>ACG	p.K234T	uc003hum.1_Intron|ADH4_uc011ced.1_Missense_Mutation_p.K253T	NM_000670	NP_000661	P08319	ADH4_HUMAN	class II alcohol dehydrogenase, pi subunit	234		NAD.			alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			skin(2)	2				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	CTTCACAAACTTCTCACTGTT	0.468													G	100052797	T	G	100052797	3	3	20	1	0	0	0	0	1	0	0	0	310	1609	56	5	457	5	ADH4	4	100052797	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3886647	100052797	91101479	465	18136											
ADH1A	124	broad.mit.edu	37	chr4	100201419	100201419	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgccacatgcctcatgacaAcataacagggaagccatctg	9	12	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:100201419A>G	uc003hur.1	-	7	917	c.846T>C	c.(844-846)TGT>TGC	p.C282C	uc003hum.1_Intron|ADH1A_uc011ceg.1_Silent_p.C282C	NM_000667	NP_000658	P07327	ADH1A_HUMAN	class I alcohol dehydrogenase, alpha subunit	282					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CCTCATGACAACATAACAGGG	0.438													G	100201419	A	G	100201419	2	3	20	1	0	0	0	0	0	0	0	1	307	41	2	3		3	ADH1A	4	100201419	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	148622	100201419	90952857	466	18137											
MTTP	4547	broad.mit.edu	37	chr4	100515985	100515985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagttgattcaaagtacaCggccattcccattgtggggc	11	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:100515985C>T	uc003hvc.3	+	8	1110	c.854C>T	c.(853-855)ACG>ATG	p.T285M	MTTP_uc011cej.1_Missense_Mutation_p.T312M	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	285	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TCAAAGTACACGGCCATTCCC	0.468													T	100515985	C	T	100515985	3	4	20	1	0	0	0	0	1	0	0	0	9964	536	19	1	880	1	MTTP	4	100515985	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	314566	100515985	90638291	467	18138											
INTS12	57117	broad.mit.edu	37	chr4	106621122	106621123	+	Frame_Shift_Ins	INS	-	-	A													caagaaacctagtgctttcaINSaaaaaatgggatcaagttcc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:106621121_106621122C>CA	uc003hxw.3	-	2	299_300	c.41_42G>TG	c.(40-42)ttgfs	p.L14fs	INTS12_uc010ilr.3_Frame_Shift_Ins_p.L14fs	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	Homo sapiens integrator complex subunit 12 (INTS12), transcript variant 1, mRNA.	14					snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		CTAGTGCTTTCAAAAAAATGGG	0.386													A	106621123	-	A	106621122	7	5	20	1	0	1	1	0	0	0	0	0	7777	131	5	0	1371	0	INTS12	4	106621122	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	6105137	106621122	84533154	468	18139											
TBCK	93627	broad.mit.edu	37	chr4	107114826	107114826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attagccaaaagccggtcccGcagctgctgaagaattgcta	10	11	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:107114826G>A	uc010ilv.2	-	22	2364	c.1999C>T	c.(1999-2001)CGG>TGG	p.R667W	TBCK_uc003hyb.2_Missense_Mutation_p.R410W|TBCK_uc003hye.2_Missense_Mutation_p.R628W|TBCK_uc003hyc.2_Missense_Mutation_p.R604W|TBCK_uc003hyd.2_Missense_Mutation_p.R495W|TBCK_uc003hyf.2_Missense_Mutation_p.R667W	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	667						intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						AGCCGGTCCCGCAGCTGCTGA	0.393													A	107114826	G	A	107114826	3	1	20	1	0	0	0	0	1	0	0	0	15633	1086	38	1	702	1	TBCK	4	107114826	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	493704	107114826	84039450	469	18140											
LEF1	51176	broad.mit.edu	37	chr4	108999451	108999451	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acgacattcgctctcatttcTttcatgtataacataaaagc	4	10	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:108999451T>A	uc003hyt.1	-	8	1588	c.933A>T	c.(931-933)AAA>AAT	p.K311N	LEF1_uc011cfj.1_Missense_Mutation_p.K168N|LEF1_uc011cfk.1_Missense_Mutation_p.K215N|LEF1_uc003hyu.1_Missense_Mutation_p.K283N|LEF1_uc003hyv.1_Missense_Mutation_p.K283N|LEF1_uc010imb.1_RNA|LEF1_uc010ima.1_Translation_Start_Site|LEF1_uc003hyw.1_RNA	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1 isoform 1	311	HMG box.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CTCTCATTTCTTTCATGTATA	0.423													A	108999451	T	A	108999451	3	1	20	1	0	0	0	0	1	0	0	0	8714	1606	56	5	366	5	LEF1	4	108999451	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1884625	108999451	82154825	470	18141											
COL25A1	84570	broad.mit.edu	37	chr4	110223100	110223100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcatggtccgggcacaatGctgttcggcaggggtcgggt	19	9	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:110223100G>A	uc003hze.1	-	2	607	c.76C>T	c.(76-78)CAT>TAT	p.H26Y	COL25A1_uc003hzg.2_Missense_Mutation_p.H26Y|COL25A1_uc003hzh.1_Missense_Mutation_p.H26Y	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	26	Cytoplasmic (Potential).					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CGGGCACAATGCTGTTCGGCA	0.672													A	110223100	G	A	110223100	3	1	20	1	0	0	0	0	1	0	0	0	3684	1319	46	2	2116	2	COL25A1	4	110223100	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1223649	110223100	80931176	471	18142											
SEC24B	10427	broad.mit.edu	37	chr4	110416004	110416004	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatattctggattccagcagTatcctcaagtatgtattcag	7	8	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:110416004T>C	uc003hzk.2	+	6	1535	c.1480T>C	c.(1480-1482)TAT>CAT	p.Y494H	SEC24B_uc003hzl.2_Missense_Mutation_p.Y459H|SEC24B_uc011cfp.1_Missense_Mutation_p.Y525H|SEC24B_uc011cfq.1_Missense_Mutation_p.Y494H|SEC24B_uc011cfr.1_Missense_Mutation_p.Y459H	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	494					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ATTCCAGCAGTATCCTCAAGT	0.408													C	110416004	T	C	110416004	3	2	20	1	0	0	0	0	1	0	0	0	13995	1638	57	3	1502	3	SEC24B	4	110416004	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	192904	110416004	80738272	472	18143											
PLA2G12A	81579	broad.mit.edu	37	chr4	110638766	110638766	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcagatcttggagaggcaaTactggaattcttcatcacag	11	8	4	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:110638766T>A	uc003hzp.2	-	3	666	c.389A>T	c.(388-390)TAT>TTT	p.Y130F	PLA2G12A_uc010img.2_Missense_Mutation_p.Y128F	NM_030821	NP_110448	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA precursor	130					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity				0				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		GGAGAGGCAATACTGGAATTC	0.458													A	110638766	T	A	110638766	3	1	20	1	0	0	0	0	1	0	0	0	11990	1406	49	5	188	5	PLA2G12A	4	110638766	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	222762	110638766	80515510	473	18144											
CFI	3426	broad.mit.edu	37	chr4	110687927	110687927	+	Frame_Shift_Del	DEL	T	T	-													tcgcaggagaggtgagtataTttttttgctaagcacttttt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:110687926_110687926AT>A	uc011cft.2	-	1	320	c.112_112AT>T	c.(112-114)tatfs	p.Y38fs	CFI_uc003hzr.4_Frame_Shift_Del_p.Y38fs	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	38					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AGGTGAGTATATTTTTTTGCT	0.398													-	110687927	T	-	110687927	7	5	20	1	0	1	0	1	0	0	0	0	3289	1490	52	0	1688	0	CFI	4	110687927	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	49161	110687927	80466349	474	18145											
EGF	1950	broad.mit.edu	37	chr4	110885671	110885671	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggaatggtttatgccctagAtcatgaccctgtggaaaata	11	7	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:110885671A>T	uc003hzy.3	+	10	2005	c.1553A>T	c.(1552-1554)GAT>GTT	p.D518V	EGF_uc011cfu.1_Missense_Mutation_p.D476V|EGF_uc011cfv.1_Missense_Mutation_p.D518V	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	518	LDL-receptor class B 5.|Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TATGCCCTAGATCATGACCCT	0.413													T	110885671	A	T	110885671	3	4	20	1	0	0	0	0	1	0	0	0	4962	333	12	5	1591	5	EGF	4	110885671	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	197744	110885671	80268605	475	18146											
ANK2	287	broad.mit.edu	37	chr4	114276333	114276333	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgactacatgaaagatgagTtccttccagctctgtcttta	7	10	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:114276333T>C	uc003ibe.3	+	38	6659	c.6559T>C	c.(6559-6561)TTC>CTC	p.F2187L	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.F2202L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2154					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)		GAAAGATGAGTTCCTTCCAGC	0.493													C	114276333	T	C	114276333	3	2	20	1	0	0	0	0	1	0	0	0	621	1725	60	3	6774	3	ANK2	4	114276333	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3390662	114276333	76877943	476	18147											
USP53	54532	broad.mit.edu	37	chr4	120189470	120189470	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagataatttaaaagaaaatGgatttggtgatcaggcaaag	10	3	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:120189470G>C	uc003ics.3	+	13	2249	c.1183G>C	c.(1183-1185)GGA>CGA	p.G395R	USP53_uc003icr.3_Missense_Mutation_p.G395R|USP53_uc003icu.3_Missense_Mutation_p.G18R|USP53_uc003ict.2_Missense_Mutation_p.G18R	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	395					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4						AAAAGAAAATGGATTTGGTGA	0.358													C	120189470	G	C	120189470	3	2	20	1	0	0	0	0	1	0	0	0	17081	1349	47	5	1221	5	USP53	4	120189470	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	5913137	120189470	70964806	477	18148											
PRDM5	11107	broad.mit.edu	37	chr4	121774675	121774675	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatccaaaatgtacaaaacTtctcccttactcccacgaac	3	15	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:121774675T>G	uc003idn.2	-	3	448	c.198A>C	c.(196-198)GAA>GAC	p.E66D	PRDM5_uc003ido.2_Missense_Mutation_p.E66D|PRDM5_uc010ine.2_Missense_Mutation_p.E66D|PRDM5_uc010inf.2_Missense_Mutation_p.E66D|PRDM5_uc003idp.1_Missense_Mutation_p.E66D	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	66	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2						TGTACAAAACTTCTCCCTTAC	0.458													G	121774675	T	G	121774675	3	3	20	1	0	0	0	0	1	0	0	0	12460	1606	56	5	1750	5	PRDM5	4	121774675	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1585205	121774675	69379601	478	18149											
IL21	59067	broad.mit.edu	37	chr4	123542048	123542048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaatatctataagttgaCgcattctaatcatgtggcga	7	8	3	1	rs141748932	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:123542048C>T	uc003ies.2	-	1	164	c.119G>A	c.(118-120)CGT>CAT	p.R40H	uc003iet.2_RNA|IL21_uc010int.2_Missense_Mutation_p.R33H	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN	interleukin 21	33					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding				0						TATAAGTTGACGCATTCTAAT	0.363													T	123542048	C	T	123542048	3	4	20	1	0	0	0	0	1	0	0	0	7670	536	19	1	389	1	IL21	4	123542048	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1767373	123542048	67612228	479	18150											
ANKRD50	57182	broad.mit.edu	37	chr4	125591259	125591259	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ataagacctgaacaacatcaAtgtgcccttcctgggctgca	8	12	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:125591259A>T	uc003ifg.3	-	3	3439	c.3173T>A	c.(3172-3174)ATT>AAT	p.I1058N	ANKRD50_uc011cgo.1_Missense_Mutation_p.I879N|ANKRD50_uc010inw.2_Missense_Mutation_p.I1058N	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1058	ANK 18.									central_nervous_system(1)	1						AACAACATCAATGTGCCCTTC	0.458													T	125591259	A	T	125591259	3	4	20	1	0	0	0	0	1	0	0	0	677	101	4	5	1120	5	ANKRD50	4	125591259	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2049211	125591259	65563017	480	18151											
FAT4	79633	broad.mit.edu	37	chr4	126238232	126238232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccagctcctggttgaggtGgaggacaagggtgagcctaa	15	8	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:126238232G>A	uc003ifj.3	+	1	666	c.666G>A	c.(664-666)GTG>GTA	p.V222V		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	222	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGGTTGAGGTGGAGGACAAGG	0.592											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	126238232	G	A	126238232	2	1	20	1	0	0	0	0	0	0	0	1	5692	1335	47	4		4	FAT4	4	126238232	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	646973	126238232	64916044	481	18152											
MFSD8	256471	broad.mit.edu	37	chr4	128864930	128864930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaattcccaacaatccaCgagcaaccagcatgtagtat	5	14	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:128864930C>T	uc003ifp.2	-	5	579	c.416G>A	c.(415-417)CGT>CAT	p.R139H	MFSD8_uc011cgu.1_Missense_Mutation_p.R94H|MFSD8_uc011cgv.1_Missense_Mutation_p.R139H|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_Missense_Mutation_p.R94H	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing	139	Helical; (Potential).		R -> H (in CLN7).		cell death|transmembrane transport	integral to membrane|lysosomal membrane				ovary(1)|liver(1)	2						CAACAATCCACGAGCAACCAG	0.413													T	128864930	C	T	128864930	3	4	20	1	0	0	0	0	1	0	0	0	9538	536	19	1	1176	1	MFSD8	4	128864930	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2626698	128864930	62289346	482	18153											
SCLT1	132320	broad.mit.edu	37	chr4	129812269	129812269	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagctcttgggtatgaAgtttctgtcgactcagctca	10	9	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:129812269A>C	uc003igp.2	-	19	2359	c.1853T>G	c.(1852-1854)CTT>CGT	p.L618R	SCLT1_uc003ign.2_Missense_Mutation_p.L282R|SCLT1_uc003igo.2_Missense_Mutation_p.L228R|SCLT1_uc003igq.2_Missense_Mutation_p.L237R|SCLT1_uc010iob.1_Missense_Mutation_p.L105R	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	618	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5						TTGGGTATGAAGTTTCTGTCG	0.398													C	129812269	A	C	129812269	3	2	20	1	0	0	0	0	1	0	0	0	13906	72	3	5	225	5	SCLT1	4	129812269	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	947339	129812269	61342007	483	18154											
PCDH10	57575	broad.mit.edu	37	chr4	134071968	134071969	+	Frame_Shift_Ins	INS	-	-	CC													tggcgggggagcaggcctgcINSccccccagcagcagcgcacc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:134071967_134071968G>GCC	uc003iha.3	+	0	1498_1499	c.672_673G>GCC	c.(670-675)ctgcccfs	p.L224fs	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Frame_Shift_Ins_p.L224fs	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	224	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		gagcaggCCTGCCCCCCCAGCA	0.668													CC	134071969	-	CC	134071968	7	5	20	1	0	1	1	0	0	0	0	0	11507	739	26	0	675	0	PCDH10	4	134071968	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	4259699	134071968	57082308	484	18155											
ELF2	1998	broad.mit.edu	37	chr4	139980201	139980201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagggcaatagctgaaggcGcactgacaaccactacgtgg	13	10	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:139980201G>A	uc003ihp.1	-	9	1888	c.1682C>T	c.(1681-1683)GCG>GTG	p.A561V	ELF2_uc003ihm.1_Missense_Mutation_p.A513V|ELF2_uc003ihn.1_Missense_Mutation_p.A501V|ELF2_uc003iho.1_Missense_Mutation_p.A484V|ELF2_uc011chc.1_Missense_Mutation_p.A376V	NM_201999	NP_973728	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription	573					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2	all_hematologic(180;0.162)					AGCTGAAGGCGCACTGACAAC	0.433													A	139980201	G	A	139980201	3	1	20	1	0	0	0	0	1	0	0	0	5054	1087	38	1	67	1	ELF2	4	139980201	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	5908233	139980201	51174075	485	18156											
MMAA	166785	broad.mit.edu	37	chr4	146572253	146572253	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgttgctgacatggttgAcatgtttgttttactactgc	10	7	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:146572253A>G	uc003ikh.3	+	5	858	c.773A>G	c.(772-774)GAC>GGC	p.D258G	MMAA_uc010iow.2_Intron	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria type A precursor	258						mitochondrion	GTP binding|nucleoside-triphosphatase activity			ovary(1)	1	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GACATGGTTGACATGTTTGTT	0.308													G	146572253	A	G	146572253	3	3	20	1	0	0	0	0	1	0	0	0	9639	275	10	3	787	3	MMAA	4	146572253	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	6592052	146572253	44582023	486	18157											
TMEM184C	55751	broad.mit.edu	37	chr4	148554111	148554111	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttatttctgaaaagcatacGtgggaatggcaaactgtaga	11	5	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:148554111G>A	uc003ila.3	+	8	1406	c.837G>A	c.(835-837)ACG>ACA	p.T279T		NM_018241	NP_060711	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	279						integral to membrane					0						AAAAGCATACGTGGGAATGGC	0.348													A	148554111	G	A	148554111	2	1	20	1	0	0	0	0	0	0	0	1	16103	1132	40	1		1	TMEM184C	4	148554111	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1981858	148554111	42600165	487	18158											
NR3C2	4306	broad.mit.edu	37	chr4	149002528	149002528	+	Frame_Shift_Del	DEL	C	C	-													aagtagagcggcttggcgttCcccgactccaccttgggcag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:149002527_149002527TC>T	uc003ilj.4	-	8	3286	c.2923_2923GA>A	c.(2923-2925)aacfs	p.N975fs	NR3C2_uc003ilk.4_Frame_Shift_Del_p.N858fs|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	975	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGCTTGGCGTTCCCCGACTCC	0.577													-	149002528	C	-	149002528	7	5	20	1	0	1	0	1	0	0	0	0	10631	842	30	0	36	0	NR3C2	4	149002528	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	448417	149002528	42151748	488	18159											
NR3C2	4306	broad.mit.edu	37	chr4	149075852	149075852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgttttcaaggaccataaCgggggaaggtgtgagcgctc	14	7	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:149075852C>T	uc003ilj.3	-	5	2549	c.2215G>A	c.(2215-2217)GTT>ATT	p.V739I	NR3C2_uc003ilk.3_Intron|NR3C2_uc010iph.2_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	739	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	AGGACCATAACGGGGGAAGGT	0.502													T	149075852	C	T	149075852	3	4	20	1	0	0	0	0	1	0	0	0	10631	536	19	1	759	1	NR3C2	4	149075852	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	73324	149075852	42078424	489	18160											
LRBA	987	broad.mit.edu	37	chr4	151765907	151765907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgctgttgacactccaagCaattccttactgcgactgca	7	12	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:151765907C>T	uc010ipj.2	-	27	4838	c.4364G>A	c.(4363-4365)TGC>TAC	p.C1455Y	LRBA_uc003ilt.3_Missense_Mutation_p.C114Y|LRBA_uc003ilu.3_Missense_Mutation_p.C1455Y	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1455						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					ACACTCCAAGCAATTCCTTAC	0.358													T	151765907	C	T	151765907	3	4	20	1	0	0	0	0	1	0	0	0	8931	710	25	2	4355	2	LRBA	4	151765907	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2690055	151765907	39388369	490	18161											
FBXW7	55294	broad.mit.edu	37	chr4	153332714	153332714	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaccgaaataaatctattaTtgttttcttccaactgtcct	3	10	2	0	rs139738471		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:153332714T>C	uc003ims.2	-	2	391	c.242A>G	c.(241-243)AAT>AGT	p.N81S	FBXW7_uc011cii.1_Missense_Mutation_p.N81S|FBXW7_uc003imt.2_Missense_Mutation_p.N81S|FBXW7_uc003imu.2_Missense_Mutation_p.N81S	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	81					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AAATCTATTATTGTTTTCTTC	0.403			Mis|N|D|F		colorectal|endometrial|T-ALL								C	153332714	T	C	153332714	3	2	20	1	0	0	0	0	1	0	0	0	5769	1493	52	3	2341	3	FBXW7	4	153332714	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1566807	153332714	37821562	491	18162											
DCHS2	54798	broad.mit.edu	37	chr4	155157153	155157153	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagggtgaaaaaatacTgatcttgagtgaaaatgggc	14	4	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:155157153T>C	uc003inw.2	-	25	7286	c.7286A>G	c.(7285-7287)CAG>CGG	p.Q2429R		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2429	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAAAAAATACTGATCTTGAGT	0.433													C	155157153	T	C	155157153	3	2	20	1	0	0	0	0	1	0	0	0	4288	1580	55	3	1468	3	DCHS2	4	155157153	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1824439	155157153	35997123	492	18163											
DCHS2	54798	broad.mit.edu	37	chr4	155243493	155243493	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaacattacctgaatattaAcaactgcctgtccttgaaga	5	10	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:155243493A>C	uc003inw.2	-	13	2801	c.2801T>G	c.(2800-2802)GTT>GGT	p.V934G		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	934	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGAATATTAACAACTGCCTG	0.353													C	155243493	A	C	155243493	3	2	20	1	0	0	0	0	1	0	0	0	4288	43	2	5	6001	5	DCHS2	4	155243493	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	86340	155243493	35910783	493	18164											
DCHS2	54798	broad.mit.edu	37	chr4	155254317	155254317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggctggcgatggagtaccGgatgagtccgttccgcccac	15	13	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:155254317G>A	uc003inw.2	-	9	1546	c.1546C>T	c.(1546-1548)CGG>TGG	p.R516W	DCHS2_uc003inx.2_Missense_Mutation_p.R1015W	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	516	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGGAGTACCGGATGAGTCCG	0.647													A	155254317	G	A	155254317	3	1	20	1	0	0	0	0	1	0	0	0	4288	1115	39	1	7368	1	DCHS2	4	155254317	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	10824	155254317	35899959	494	18165											
PLRG1	5356	broad.mit.edu	37	chr4	155468219	155468220	+	Splice_Site	INS	-	-	A													gtattcaacttcttgtcctaINSaaaaaacacaaaaaaaatca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:155468218_155468219T>TA	uc003iny.3	-	4	385	c.260_splice	c.e4-1	p.G87_splice	PLRG1_uc003inz.3_Splice_Site_p.G87_splice|PLRG1_uc011cil.2_Splice_Site	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	87						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CTTCTTGTCCTAAAAAAACACA	0.307													A	155468220	-	A	155468219	8	5	20	1	0	1	1	0	0	0	1	0	12106	377	13	0		0	PLRG1	4	155468219	Splice_Site	INS	-	TCGA-BR-4362-01A-01D-1158-08	213902	155468219	35686057	495	18166											
FGG	2266	broad.mit.edu	37	chr4	155526190	155526190	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgccattatcataaccattAggagtagatgcttttgagta	8	6	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:155526190A>G	uc003ioj.2	-	9	1299	c.1158T>C	c.(1156-1158)CCT>CCC	p.P386P	FGG_uc003iog.2_Silent_p.P386P|FGG_uc003ioh.2_Silent_p.P394P|FGG_uc010ipx.2_Silent_p.P214P|FGG_uc010ipy.2_Silent_p.P97P|FGG_uc003ioi.2_Silent_p.P97P|FGG_uc003iok.2_Silent_p.P394P	NM_021870	NP_068656	P02679	FIBG_HUMAN	fibrinogen, gamma chain isoform gamma-B	386	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding				0	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CATAACCATTAGGAGTAGATG	0.383													G	155526190	A	G	155526190	2	3	20	1	0	0	0	0	0	0	0	1	5870	407	15	3		3	FGG	4	155526190	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	57971	155526190	35628086	496	18167											
RBM46	166863	broad.mit.edu	37	chr4	155749070	155749070	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctttcccctgttagtgctAccctctcttctgggactccc	7	16	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:155749070A>G	uc003ioo.2	+	5	1626	c.1453A>G	c.(1453-1455)ACC>GCC	p.T485A	RBM46_uc011cim.1_3'UTR|RBM46_uc003iop.1_3'UTR	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	485							nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				TGTTAGTGCTACCCTCTCTTC	0.403													G	155749070	A	G	155749070	3	3	20	1	0	0	0	0	1	0	0	0	13140	391	14	3	1467	3	RBM46	4	155749070	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	222880	155749070	35405206	497	18168											
GUCY1A3	2982	broad.mit.edu	37	chr4	156618181	156618181	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagacattcctgagaagaaCatacaagaaagtcttcctca	6	10	2	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:156618181C>A	uc003iov.2	+	4	698	c.162C>A	c.(160-162)AAC>AAA	p.N54K	GUCY1A3_uc003iou.2_Missense_Mutation_p.N54K|GUCY1A3_uc010iqc.2_Missense_Mutation_p.N54K|GUCY1A3_uc003iow.2_Missense_Mutation_p.N54K|GUCY1A3_uc010iqd.2_Missense_Mutation_p.N54K|GUCY1A3_uc003iox.2_Missense_Mutation_p.N54K|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.N54K|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.N54K	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	54					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTGAGAAGAACATACAAGAAA	0.478													A	156618181	C	A	156618181	3	1	20	1	0	0	0	0	1	0	0	0	6894	477	17	5	164	5	GUCY1A3	4	156618181	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	869111	156618181	34536095	498	18169											
TDO2	6999	broad.mit.edu	37	chr4	156832687	156832687	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtttagagccacatggAtttaacttctggggaaagct	11	8	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:156832687A>T	uc003ipf.1	+	7	721	c.657A>T	c.(655-657)GGA>GGT	p.G219G		NM_005651	NP_005642	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	219					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	AGCCACATGGATTTAACTTCT	0.338													T	156832687	A	T	156832687	2	4	20	1	0	0	0	0	0	0	0	1	15724	320	12	5		5	TDO2	4	156832687	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	214506	156832687	34321589	499	18170											
RAPGEF2	9693	broad.mit.edu	37	chr4	160260432	160260432	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaggtctctgtcacaccTgagggagtaatcaaacaaag	11	8	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:160260432T>C	uc003iqg.3	+	13	2287	c.1977T>C	c.(1975-1977)CCT>CCC	p.P659P		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	659	Ras-associating.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CTGTCACACCTGAGGGAGTAA	0.433													C	160260432	T	C	160260432	2	2	20	1	0	0	0	0	0	0	0	1	13044	1567	55	3		3	RAPGEF2	4	160260432	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3427745	160260432	30893844	500	18171											
NEIL3	55247	broad.mit.edu	37	chr4	178272681	178272681	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctaaggcatgtgatgcTtgcttgacctcaaggcctat	9	10	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:178272681T>C	uc003iut.2	+	7	1134	c.1017T>C	c.(1015-1017)GCT>GCC	p.A339A	NEIL3_uc010irs.2_Intron	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3	339	RanBP2-type.				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CATGTGATGCTTGCTTGACCT	0.413								BER_DNA_glycosylases					C	178272681	T	C	178272681	2	2	20	1	0	0	0	0	0	0	0	1	10320	1596	56	3		3	NEIL3	4	178272681	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	18012249	178272681	12881595	501	18172											
IRF2	3660	broad.mit.edu	37	chr4	185339758	185339758	+	Frame_Shift_Del	DEL	T	T	-													attatttcctttctttatgcTtttatccttgacttcttcaa							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:185339758delT	uc003iwf.3	-	4	492	c.292delA	c.(292-294)AGCfs	p.S98fs		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	98	IRF tryptophan pentad repeat.				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TTCTTTATGCTTTTATCCTTG	0.418													-	185339758	T	-	185339758	7	5	20	1	0	1	0	1	0	0	0	0	7828	1609	56	0	781	0	IRF2	4	185339758	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	7067077	185339758	5814518	502	18173											
IRF2	3660	broad.mit.edu	37	chr4	185340688	185340688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcccacccatgtctagccGcatgcatccaggggatctga	9	15	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:185340688G>A	uc003iwf.3	-	3	322	c.122C>T	c.(121-123)GCG>GTG	p.A41V		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	41	IRF tryptophan pentad repeat.				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		ATGTCTAGCCGCATGCATCCA	0.423													A	185340688	G	A	185340688	3	1	20	1	0	0	0	0	1	0	0	0	7828	1087	38	1	955	1	IRF2	4	185340688	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	930	185340688	5813588	503	18174											
MLF1IP	79682	broad.mit.edu	37	chr4	185637662	185637662	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctgaaagttctgaagaCgctgtggttcgaataacctc	9	9	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:185637662C>T	uc003iwq.2	-	6	577	c.507G>A	c.(505-507)GCG>GCA	p.A169A	MLF1IP_uc003iwp.2_RNA|MLF1IP_uc003iwr.1_Silent_p.A169A	NM_024629	NP_078905	Q71F23	CENPU_HUMAN	MLF1 interacting protein	169					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm					0		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GTTCTGAAGACGCTGTGGTTC	0.418													T	185637662	C	T	185637662	2	4	20	1	0	0	0	0	0	0	0	1	9615	523	19	1		1	MLF1IP	4	185637662	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	296974	185637662	5516614	504	18175											
SLC25A4	291	broad.mit.edu	37	chr4	186068023	186068023	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaagattgcaaaagacgaAggagccaaggccttcttcaa	11	8	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:186068023A>G	uc003ixd.2	+	4	924	c.795A>G	c.(793-795)GAA>GAG	p.E265E	SLC25A4_uc003ixe.2_RNA	NM_001151	NP_001142	P12235	ADT1_HUMAN	adenine nucleotide translocator 1	265	Solcar 3.				energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding			ovary(1)	1		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	CAAAAGACGAAGGAGCCAAGG	0.483													G	186068023	A	G	186068023	2	3	20	1	0	0	0	0	0	0	0	1	14504	69	3	3		3	SLC25A4	4	186068023	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	430361	186068023	5086253	505	18176											
FAM149A	25854	broad.mit.edu	37	chr4	187084649	187084649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaccgcacagactgggacGggcctcagacactcatggat	12	14	2	2	rs139445329	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:187084649G>A	uc003iyt.3	+	10	1484	c.905G>A	c.(904-906)CGG>CAG	p.R302Q	FAM149A_uc011cla.1_Missense_Mutation_p.R302Q|FAM149A_uc003iyu.3_Missense_Mutation_p.R302Q|FAM149A_uc010isl.2_Missense_Mutation_p.R302Q|FAM149A_uc011clb.1_Missense_Mutation_p.R302Q	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	hypothetical protein LOC25854	593										breast(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		AGACTGGGACGGGCCTCAGAC	0.522													A	187084649	G	A	187084649	3	1	20	1	0	0	0	0	1	0	0	0	5455	1116	39	1	931	1	FAM149A	4	187084649	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1016626	187084649	4069627	506	18177											
TRIML2	205860	broad.mit.edu	37	chr4	189013068	189013068	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atagtgccaggcagggatgaGctgtttcaggatccaatgtt	13	7	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:189013068G>T	uc003izl.2	-	7	659	c.623C>A	c.(622-624)GCT>GAT	p.A208D	TRIML2_uc003izj.1_Missense_Mutation_p.A36D|TRIML2_uc003izk.1_Missense_Mutation_p.A16D|TRIML2_uc011cle.1_Missense_Mutation_p.A283D	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	208	B30.2/SPRY.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCAGGGATGAGCTGTTTCAGG	0.478													T	189013068	G	T	189013068	3	4	20	1	0	0	0	0	1	0	0	0	16548	971	34	5	544	5	TRIML2	4	189013068	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1928419	189013068	2141208	507	18178											
CCDC127	133957	broad.mit.edu	37	chr5	206059	206059	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacttctttctgggactcccTagaccaaatccaacctgaca	5	14	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:206059T>C	uc003jam.1	-	3	236	c.136A>G	c.(136-138)AGG>GGG	p.R46G		NM_145265	NP_660308	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	46											0			all cancers(22;0.0236)|Lung(60;0.113)			TGGGACTCCCTAGACCAAATC	0.423													C	206059	T	C	206059	3	2	20	1	0	0	0	0	1	0	0	0	2763	1521	53	3	650	3	CCDC127	5	206059	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08		206059	180709201	508	18179											
NKD2	85409	broad.mit.edu	37	chr5	1038076	1038076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctcggagcctgctgcccGggccctggacacgcagcccc	13	19	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:1038076G>A	uc003jbt.1	+	10	949	c.944G>A	c.(943-945)CGG>CAG	p.R315Q	NKD2_uc010itf.1_3'UTR	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	naked cuticle homolog 2	315	Interaction with TGFA.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding				0	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CCTGCTGCCCGGGCCCTGGAC	0.701													A	1038076	G	A	1038076	3	1	20	1	0	0	0	0	1	0	0	0	10442	1116	39	1	982	1	NKD2	5	1038076	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	832017	1038076	179877184	509	18180											
SLC12A7	10723	broad.mit.edu	37	chr5	1073892	1073892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggcctgctccgcgtccagGttcagcatcaccagcacctg	10	17	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:1073892G>A	uc003jbu.2	-	17	2163	c.2097C>T	c.(2095-2097)AAC>AAT	p.N699N		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	699					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCGCGTCCAGGTTCAGCATCA	0.682													A	1073892	G	A	1073892	2	1	20	1	0	0	0	0	0	0	0	1	14388	1252	44	4		4	SLC12A7	5	1073892	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	35816	1073892	179841368	510	18181											
IRX2	153572	broad.mit.edu	37	chr5	2749792	2749793	+	Frame_Shift_Del	DEL	TT	TT	-													ccgtggcgtcccgcgtggcgTtcttgcggtacgcggggtcg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:2749792_2749793delTT	uc003jda.2	-	2	600_601	c.358_359delAA	c.(358-360)AACfs	p.N120fs	C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Frame_Shift_Del_p.N120fs	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	120	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		CCGCGTGGCGTTCTTGCGGTAC	0.658													-	2749793	TT	-	2749792	7	5	20	1	0	1	0	1	0	0	0	0	7844	1725	60	0	1068	0	IRX2	5	2749792	Frame_Shift_Del	DEL	TT	TCGA-BR-4362-01A-01D-1158-08	1675900	2749792	178165468	511	18182											
KIAA0947	23379	broad.mit.edu	37	chr5	5462178	5462178	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgatggggaaagagatgatAcaacacaaaacatcacggag	12	6	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:5462178A>G	uc003jdm.3	+	13	2953	c.2731A>G	c.(2731-2733)ACA>GCA	p.T911A		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	911										ovary(1)|central_nervous_system(1)	2						AAGAGATGATACAACACAAAA	0.423													G	5462178	A	G	5462178	3	3	20	1	0	0	0	0	1	0	0	0	8202	391	14	3	2781	3	KIAA0947	5	5462178	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2712386	5462178	175453082	512	18183											
KIAA0947	23379	broad.mit.edu	37	chr5	5464615	5464615	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcggccacgccgaagcAcgcacttcctgtgcctggcc	12	17	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:5464615A>G	uc003jdm.3	+	13	5390	c.5168A>G	c.(5167-5169)CAC>CGC	p.H1723R		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1723	Pro-rich.									ovary(1)|central_nervous_system(1)	2						ACGCCGAAGCACGCACTTCCT	0.592													G	5464615	A	G	5464615	3	3	20	1	0	0	0	0	1	0	0	0	8202	159	6	3	5218	3	KIAA0947	5	5464615	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2437	5464615	175450645	513	18184											
SRD5A1	6715	broad.mit.edu	37	chr5	6633704	6633704	+	Frame_Shift_Del	DEL	G	G	-													ctggcgatggcaacggcgacGggggtggcggaggagcgcct							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:6633704delG	uc003jdw.2	+	1	205	c.15delG	c.(13-15)ACGfs	p.T5fs	NSUN2_uc003jdu.2_5'Flank|NSUN2_uc011cmk.1_5'Flank|NSUN2_uc003jdv.2_5'Flank|SRD5A1_uc011cml.1_RNA|SRD5A1_uc011cmm.1_Frame_Shift_Del_p.R14fs	NM_001047	NP_001038	P18405	S5A1_HUMAN	steroid-5-alpha-reductase 1	5					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity				0					Dutasteride(DB01126)|Finasteride(DB01216)	CAACGGCGACGGGGGTGGCGG	0.736													-	6633704	G	-	6633704	7	5	20	1	0	1	0	1	0	0	0	0	15137	1103	39	0	17	0	SRD5A1	5	6633704	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	1169089	6633704	174281556	514	18185											
TRIO	7204	broad.mit.edu	37	chr5	14487781	14487782	+	Frame_Shift_Ins	INS	-	-	C													cccagcctgtccgacaccacINSccccccgtgctggtctcctc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:14487780_14487781A>AC	uc003jff.3	+	47	7049_7050	c.7043_7044A>AC	c.(7042-7044)cacfs	p.H2348fs	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Frame_Shift_Ins_p.H1997fs	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2348					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTCCGACACCACCCCCCCGTGC	0.748													C	14487782	-	C	14487781	7	5	20	1	0	1	1	0	0	0	0	0	16549	506	18	0	7234	0	TRIO	5	14487781	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	7854077	14487781	166427479	515	18186											
TRIO	7204	broad.mit.edu	37	chr5	14498254	14498254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtgagacaggggagaccGttgttcttagatgtcgagtc	15	7	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:14498254G>A	uc003jff.2	+	52	8110	c.8104G>A	c.(8104-8106)GTT>ATT	p.V2702I	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2702	Ig-like C2-type.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					AGGGGAGACCGTTGTTCTTAG	0.542													A	14498254	G	A	14498254	3	1	20	1	0	0	0	0	1	0	0	0	16549	1145	40	1	8310	1	TRIO	5	14498254	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	10473	14498254	166417006	516	18187											
FBXL7	23194	broad.mit.edu	37	chr5	15936943	15936943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctacgtggccaagtactGcagcaagctgcgctacctca	10	15	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:15936943G>A	uc003jfn.1	+	4	1605	c.1124G>A	c.(1123-1125)TGC>TAC	p.C375Y		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	375	LRR 8.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						GCCAAGTACTGCAGCAAGCTG	0.642													A	15936943	G	A	15936943	3	1	20	1	0	0	0	0	1	0	0	0	5724	1319	46	2	1138	2	FBXL7	5	15936943	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1438689	15936943	164978317	517	18188											
ZNF622	90441	broad.mit.edu	37	chr5	16465449	16465449	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccaagttcttttcattcAtcatctccactttccgattc	2	14	6	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:16465449A>G	uc003jfq.2	-	1	446	c.326T>C	c.(325-327)ATG>ACG	p.M109T		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	zinc finger protein 622	109						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						CTTTTCATTCATCATCTCCAC	0.557													G	16465449	A	G	16465449	3	3	20	1	0	0	0	0	1	0	0	0	18043	217	8	3	1131	3	ZNF622	5	16465449	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	528506	16465449	164449811	518	18189											
CDH12	1010	broad.mit.edu	37	chr5	21802401	21802401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaccggtggctcatctacGtccagcacgctgatcttcac	8	14	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:21802401G>A	uc010iuc.2	-	7	1589	c.1131C>T	c.(1129-1131)GAC>GAT	p.D377D	CDH12_uc011cno.1_Silent_p.D337D|CDH12_uc003jgk.2_Silent_p.D377D	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	377	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						GCTCATCTACGTCCAGCACGC	0.537										HNSCC(59;0.17)			A	21802401	G	A	21802401	2	1	20	1	0	0	0	0	0	0	0	1	3098	1136	40	1		1	CDH12	5	21802401	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	5336952	21802401	159112859	519	18190											
CDH10	1008	broad.mit.edu	37	chr5	24493022	24493022	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctttgtctactgcacttaTagtctgtattagctgcagaa	7	8	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:24493022T>G	uc003jgr.1	-	10	1860	c.1528A>C	c.(1528-1530)ATA>CTA	p.I510L	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	510	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		ACTGCACTTATAGTCTGTATT	0.338										HNSCC(23;0.051)			G	24493022	T	G	24493022	3	3	20	1	0	0	0	0	1	0	0	0	3096	1406	49	5	850	5	CDH10	5	24493022	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2690621	24493022	156422238	520	18191											
C5orf22	55322	broad.mit.edu	37	chr5	31534401	31534401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaccctttatataccgggCcataggctcaaagcatcttc	6	13	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:31534401C>T	uc003jhj.3	+	2	231	c.104C>T	c.(103-105)GCC>GTC	p.A35V	RNASEN_uc003jhh.2_5'Flank|RNASEN_uc003jhg.2_5'Flank|RNASEN_uc003jhi.2_5'Flank|C5orf22_uc011cnw.1_RNA|C5orf22_uc003jhk.3_5'UTR	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	hypothetical protein LOC55322	35										ovary(2)	2						ATATACCGGGCCATAGGCTCA	0.423													T	31534401	C	T	31534401	3	4	20	1	0	0	0	0	1	0	0	0	2285	739	26	2	110	2	C5orf22	5	31534401	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	7041379	31534401	149380859	521	18192											
ZFR	51663	broad.mit.edu	37	chr5	32417836	32417836	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagttgctgttggttgttggTagtattgcttactatcataa	10	5	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:32417836T>A	uc003jhr.1	-	4	562	c.482A>T	c.(481-483)TAC>TTC	p.Y161F	ZFR_uc010iun.1_Missense_Mutation_p.Y161F	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	161	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)		TGGTTGTTGGTAGTATTGCTT	0.433													A	32417836	T	A	32417836	3	1	20	1	0	0	0	0	1	0	0	0	17656	1638	57	5	2810	5	ZFR	5	32417836	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	883435	32417836	148497424	522	18193											
ADAMTS12	81792	broad.mit.edu	37	chr5	33658358	33658358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcattgatgttacaactgCggtgaggctgacacattcct	9	10	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:33658358C>T	uc003jia.1	-	7	1284	c.1121G>A	c.(1120-1122)CGC>CAC	p.R374H	ADAMTS12_uc010iuq.1_Missense_Mutation_p.R374H	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	374	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GTTACAACTGCGGTGAGGCTG	0.507										HNSCC(64;0.19)			T	33658358	C	T	33658358	3	4	20	1	0	0	0	0	1	0	0	0	257	768	27	1	3735	1	ADAMTS12	5	33658358	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1240522	33658358	147256902	523	18194											
SPEF2	79925	broad.mit.edu	37	chr5	35646909	35646909	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagaaaaaagaggcagaAgtaagtgataatcctttaat	8	3	0	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:35646909A>C	uc003jjo.2	+	5	837	c.726A>C	c.(724-726)GAA>GAC	p.E242D	SPEF2_uc003jjn.1_Missense_Mutation_p.E242D|SPEF2_uc003jjq.3_Missense_Mutation_p.E242D	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	242	Potential.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGAGGCAGAAGTAAGTGATA	0.343													C	35646909	A	C	35646909	3	2	20	1	0	0	0	0	1	0	0	0	15034	86	3	5	744	5	SPEF2	5	35646909	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1988551	35646909	145268351	524	18195											
SPEF2	79925	broad.mit.edu	37	chr5	35807348	35807348	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaattattcagactataAgtttcctgtgagtattaccc	5	8	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:35807348A>G	uc003jjo.2	+	36	5483	c.5372A>G	c.(5371-5373)AAG>AGG	p.K1791R	SPEF2_uc003jjp.1_Missense_Mutation_p.K1277R|SPEF2_uc003jjr.2_Missense_Mutation_p.K846R	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1791					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCAGACTATAAGTTTCCTGTG	0.418													G	35807348	A	G	35807348	3	3	20	1	0	0	0	0	1	0	0	0	15034	72	3	3	5535	3	SPEF2	5	35807348	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	160439	35807348	145107912	525	18196											
NIPBL	25836	broad.mit.edu	37	chr5	36985528	36985528	+	Frame_Shift_Del	DEL	A	A	-													ccgccctgaaactccaaagcAaaaaaatgaagggcgacctg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:36985527_36985527CA>C	uc003jkl.4	+	9	2744	c.2245_2245CA>C	c.(2245-2247)caafs	p.Q749fs	NIPBL_uc003jkk.4_Frame_Shift_Del_p.Q749fs|NIPBL_uc003jkm.1_Frame_Shift_Del_p.Q628fs	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	749					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AACTCCAAAGCAAAAAAATGA	0.453													-	36985528	A	-	36985528	7	5	20	1	0	1	0	1	0	0	0	0	10428	130	5	0	2280	0	NIPBL	5	36985528	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	1178180	36985528	143929732	526	18197											
WDR70	55100	broad.mit.edu	37	chr5	37727018	37727019	+	Frame_Shift_Del	DEL	CT	CT	-													agttggaacccacgggggcaCtctctcttcctatattgtga							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:37727017_37727018ACT>A	uc003jkv.3	+	16	1805_1806	c.1747_1748ACT>A	c.(1747-1749)actfs	p.T583fs		NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	583										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACGGGGGCACTCTCTCTTCC	0.45													-	37727019	CT	-	37727018	7	5	20	1	0	1	0	1	0	0	0	0	17318	565	20	0	1814	0	WDR70	5	37727018	Frame_Shift_Del	DEL	CT	TCGA-BR-4362-01A-01D-1158-08	741490	37727018	143188242	527	18198											
FYB	2533	broad.mit.edu	37	chr5	39202091	39202091	+	Frame_Shift_Del	DEL	C	C	-													tcctgactttggccccatggCccccccactgtcagcttaga							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:39202090_39202090GC>G	uc003jls.3	-	0	1040	c.973_973GC>C	c.(973-975)ccafs	p.P325fs	FYB_uc003jlt.3_Frame_Shift_Del_p.P325fs|FYB_uc003jlu.3_Frame_Shift_Del_p.P325fs|FYB_uc011cpl.2_Frame_Shift_Del_p.P335fs	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	325					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding	p.P325A(4)|p.P335A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCCCATGGCCCCCCCACT	0.537													-	39202091	C	-	39202091	7	5	20	1	0	1	0	1	0	0	0	0	6124	726	26	0	1589	0	FYB	5	39202091	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	1475073	39202091	141713169	528	18199											
FYB	2533	broad.mit.edu	37	chr5	39203040	39203041	+	Frame_Shift_Ins	INS	-	-	C													gacatcctctgtcgggttgcINScccccgtgttatatttcgcc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:39203039_39203040G>GC	uc003jls.3	-	0	90_91	c.23_24C>GC	c.(22-24)ggcfs	p.G8fs	FYB_uc003jlt.3_Frame_Shift_Ins_p.G8fs|FYB_uc003jlu.3_Frame_Shift_Ins_p.G8fs|FYB_uc011cpl.2_Frame_Shift_Ins_p.G18fs	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	8					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CTGTCGGGTTGCCCCCCGTGTT	0.446													C	39203041	-	C	39203040	7	5	20	1	0	1	1	0	0	0	0	0	6124	739	26	0	2538	0	FYB	5	39203040	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	949	39203040	141712220	529	18200											
C9	735	broad.mit.edu	37	chr5	39288948	39288948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggcatgtgtggcattttcTtacactaaattcattgatat	7	6	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:39288948T>C	uc003jlv.3	-	10	1611	c.1522A>G	c.(1522-1524)AGA>GGA	p.R508G		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	508	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGGCATTTTCTTACACTAAAT	0.363													C	39288948	T	C	39288948	3	2	20	1	0	0	0	0	1	0	0	0	2443	1617	56	3	165	3	C9	5	39288948	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	85908	39288948	141626312	530	18201											
C6	729	broad.mit.edu	37	chr5	41201782	41201782	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaaatctgttcacaaaAgttttcctggtagtacttat	7	8	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:41201782A>T	uc003jmk.2	-	3	388	c.178T>A	c.(178-180)TTT>ATT	p.F60I	C6_uc003jml.1_Missense_Mutation_p.F60I	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	60	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGTTCACAAAAGTTTTCCTGG	0.413													T	41201782	A	T	41201782	3	4	20	1	0	0	0	0	1	0	0	0	2315	72	3	5	2690	5	C6	5	41201782	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1912834	41201782	139713478	531	18202											
SNX18	112574	broad.mit.edu	37	chr5	53814454	53814454	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcccaagagctcggccacCgtgagccgcaacctcaatcg	12	16	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:53814454C>A	uc003jpj.3	+	1	862	c.672C>A	c.(670-672)ACC>ACA	p.T224T	SNX18_uc011cqg.1_Silent_p.T224T|SNX18_uc003jpi.3_Silent_p.T224T	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	sorting nexin 18 isoform b	224					cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding				0		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GCTCGGCCACCGTGAGCCGCA	0.711													A	53814454	C	A	53814454	2	1	20	1	0	0	0	0	0	0	0	1	14889	639	23	5		5	SNX18	5	53814454	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	12612672	53814454	127100806	532	18203											
IL6ST	3572	broad.mit.edu	37	chr5	55247857	55247857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccactctaagacagcttcGtttttccctactttttttgt	4	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:55247857G>A	uc003jqq.2	-	13	1854	c.1599C>T	c.(1597-1599)AAC>AAT	p.N533N	IL6ST_uc010iwb.2_Silent_p.N472N|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_Silent_p.N244N|IL6ST_uc003jqr.2_3'UTR|IL6ST_uc010iwe.1_5'Flank	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	533	Extracellular (Potential).|Fibronectin type-III 5.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGACAGCTTCGTTTTTCCCTA	0.348			O		hepatocellular ca								A	55247857	G	A	55247857	2	1	20	1	0	0	0	0	0	0	0	1	7703	1136	40	1		1	IL6ST	5	55247857	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1433403	55247857	125667403	533	18204											
C5orf35	133383	broad.mit.edu	37	chr5	56209799	56209799	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggctgtgggacagtatgTcaacaattgttccaatggta	11	7	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:56209799T>C	uc003jqx.2	+	4	1062	c.689T>C	c.(688-690)GTC>GCC	p.V230A	C5orf35_uc003jqy.2_RNA	NM_153706	NP_714917	Q8NE22	CE035_HUMAN	hypothetical protein LOC133383	230										ovary(1)	1		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.173)		OV - Ovarian serous cystadenocarcinoma(10;2.58e-39)		GGACAGTATGTCAACAATTGT	0.443													C	56209799	T	C	56209799	3	2	20	1	0	0	0	0	1	0	0	0	2294	1667	58	3	703	3	C5orf35	5	56209799	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	961942	56209799	124705461	534	18205											
HTR1A	3350	broad.mit.edu	37	chr5	63257304	63257304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaccgacaccatgaggtcGgtgaccgccaaagagccaat	10	13	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:63257304G>A	uc011cqt.1	-	1	243	c.243C>T	c.(241-243)ACC>ACT	p.T81T		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	81	Helical; Name=2; (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCATGAGGTCGGTGACCGCCA	0.612													A	63257304	G	A	63257304	2	1	20	1	0	0	0	0	0	0	0	1	7436	1103	39	1		1	HTR1A	5	63257304	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	7047505	63257304	117657956	535	18206											
OCLN	4950	broad.mit.edu	37	chr5	68805114	68805114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcctccaggagtgattcGgatcctgtctatgctcatta	8	12	3	1	rs116363086	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:68805114G>A	uc003jwu.2	+	3	633	c.197G>A	c.(196-198)CGG>CAG	p.R66Q	OCLN_uc003jwv.3_Missense_Mutation_p.R66Q	NM_002538	NP_002529			occludin												0		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GGAGTGATTCGGATCCTGTCT	0.478													A	68805114	G	A	68805114	3	1	20	1	0	0	0	0	1	0	0	0	10820	1116	39	1	203	1	OCLN	5	68805114	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	5547810	68805114	112110146	536	18207											
MAP1B	4131	broad.mit.edu	37	chr5	71490958	71490958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaatggtgaaaaaagacaaGccaataaaaacagagaccaa	8	6	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:71490958G>A	uc003kbw.3	+	5	2017	c.1776G>A	c.(1774-1776)AAG>AAA	p.K592K	MAP1B_uc010iyw.1_Silent_p.K609K|MAP1B_uc010iyx.1_Silent_p.K466K|MAP1B_uc010iyy.1_Silent_p.K466K	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	592	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).					microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAAAAGACAAGCCAATAAAAA	0.448													A	71490958	G	A	71490958	2	1	20	1	0	0	0	0	0	0	0	1	9228	962	34	2		2	MAP1B	5	71490958	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2685844	71490958	109424302	537	18208											
UTP15	84135	broad.mit.edu	37	chr5	72872794	72872794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggaaggtgaaagtatacaGcacaacttcctacaaagtag	9	7	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:72872794G>A	uc003kcw.1	+	8	1050	c.827G>A	c.(826-828)AGC>AAC	p.S276N	UTP15_uc011cso.1_Missense_Mutation_p.S257N|UTP15_uc011csp.1_Missense_Mutation_p.S86N|UTP15_uc010ize.1_Missense_Mutation_p.S276N	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein,	276	WD 6.				rRNA processing	cytoplasm|nucleolus					0		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		AAAGTATACAGCACAACTTCC	0.328													A	72872794	G	A	72872794	3	1	20	1	0	0	0	0	1	0	0	0	17094	971	34	2	853	2	UTP15	5	72872794	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1381836	72872794	108042466	538	18209											
FAM169A	26049	broad.mit.edu	37	chr5	74130280	74130280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taactgaataaaacccaatgGcctctcctttcttccacaga	4	13	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:74130280G>A	uc003kdm.2	-	5	504	c.461C>T	c.(460-462)GCC>GTC	p.A154V	FAM169A_uc010izm.2_Missense_Mutation_p.A154V|FAM169A_uc003kdl.2_Intron	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN	hypothetical protein LOC26049	154											0						AAACCCAATGGCCTCTCCTTT	0.358													A	74130280	G	A	74130280	3	1	20	1	0	0	0	0	1	0	0	0	5487	1203	42	2	1587	2	FAM169A	5	74130280	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1257486	74130280	106784980	539	18210											
HMGCR	3156	broad.mit.edu	37	chr5	74643075	74643075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaatggcaattttaggtcCtacgtttaccctcgatgctc	9	10	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:74643075C>T	uc003kdp.2	+	6	653	c.497C>T	c.(496-498)CCT>CTT	p.P166L	HMGCR_uc011cst.1_Missense_Mutation_p.P186L|HMGCR_uc003kdq.2_Missense_Mutation_p.P166L|HMGCR_uc010izn.1_Missense_Mutation_p.P6L	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	166	Helical; (Potential).				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	ATTTTAGGTCCTACGTTTACC	0.363													T	74643075	C	T	74643075	3	4	20	1	0	0	0	0	1	0	0	0	7231	681	24	4	515	4	HMGCR	5	74643075	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	512795	74643075	106272185	540	18211											
WDR41	55255	broad.mit.edu	37	chr5	76785281	76785281	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaccactatagcttcttaCctgtagtcatctaactgtac	5	11	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:76785281C>T	uc003kff.1	-	2	454	c.167_splice	c.e2+1	p.R56_splice	WDR41_uc011csy.1_Splice_Site_p.R56_splice|WDR41_uc011csz.1_Intron|WDR41_uc011cta.1_Splice_Site|WDR41_uc011ctb.1_Splice_Site	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	WD repeat domain 41												0		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TAGCTTCTTACCTGTAGTCAT	0.338													T	76785281	C	T	76785281	5	4	20	1	0	0	0	0	0	0	1	0	17291	521	18	4	1259	4	WDR41	5	76785281	Splice_Site	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2142206	76785281	104129979	541	18212											
CMYA5	202333	broad.mit.edu	37	chr5	79027504	79027504	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaaagagaatttgagtgCgattctccaatatgtttaac	9	5	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:79027504C>T	uc003kgc.2	+	2	2988	c.2916C>T	c.(2914-2916)TGC>TGT	p.C972C		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	972						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATTTGAGTGCGATTCTCCAA	0.418													T	79027504	C	T	79027504	2	4	20	1	0	0	0	0	0	0	0	1	3590	776	27	1		1	CMYA5	5	79027504	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2242223	79027504	101887756	542	18213											
VCAN	1462	broad.mit.edu	37	chr5	82833689	82833689	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagctgggtagaagcaActcctagacaagttgtagag	12	6	0	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:82833689A>G	uc003kii.3	+	8	5223	c.4867A>G	c.(4867-4869)ACT>GCT	p.T1623A	VCAN_uc003kij.3_Missense_Mutation_p.T636A|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.T287A	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1623	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGTAGAAGCAACTCCTAGACA	0.438													G	82833689	A	G	82833689	3	3	20	1	0	0	0	0	1	0	0	0	17135	43	2	3	4893	3	VCAN	5	82833689	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	3806185	82833689	98081571	543	18214											
ERAP1	51752	broad.mit.edu	37	chr5	96139461	96139461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataatgaactgggatgacgtActcaggaagtcgtattttat	10	5	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:96139461A>G	uc003kmm.2	-	2	516	c.169T>C	c.(169-171)TAC>CAC	p.Y57H	ERAP1_uc003kml.2_Missense_Mutation_p.Y57H|ERAP1_uc010jbm.1_Intron|ERAP1_uc003kmn.2_Missense_Mutation_p.Y57H	NM_001040458	NP_001035548	Q9NZ08	ERAP1_HUMAN	type 1 tumor necrosis factor receptor shedding	57	Lumenal (Potential).				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		GGGATGACGTACTCAGGAAGT	0.468													G	96139461	A	G	96139461	3	3	20	1	0	0	0	0	1	0	0	0	5203	391	14	3	2761	3	ERAP1	5	96139461	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	13305772	96139461	84775799	544	18215											
FBXL17	64839	broad.mit.edu	37	chr5	107700605	107700605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatgctaaaacacatacgCcattatcagacatactgcga	5	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:107700605C>T	uc011cvc.1	-	3	1615	c.1208G>A	c.(1207-1209)GGC>GAC	p.G403D	FBXL17_uc003kon.3_Missense_Mutation_p.G5D	NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	403											0		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		AACACATACGCCATTATCAGA	0.378													T	107700605	C	T	107700605	3	4	20	1	0	0	0	0	1	0	0	0	5713	739	26	2	925	2	FBXL17	5	107700605	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	11561144	107700605	73214655	545	18216											
WDR36	134430	broad.mit.edu	37	chr5	110439999	110439999	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaattgccggactgacatTtctccatagagagccacttc	8	12	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:110439999T>G	uc003kpd.2	+	8	1139	c.1022T>G	c.(1021-1023)TTT>TGT	p.F341C	WDR36_uc010jbu.2_RNA	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	341	WD 4.				response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)|skin(1)	2		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GGACTGACATTTCTCCATAGA	0.418													G	110439999	T	G	110439999	3	3	20	1	0	0	0	0	1	0	0	0	17287	1841	64	5	1052	5	WDR36	5	110439999	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2739394	110439999	70475261	546	18217											
APC	324	broad.mit.edu	37	chr5	112164562	112164562	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaatttgcaggttattgcgAgtgttttgaggaatttgtct	11	3	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:112164562A>G	uc010jby.2	+	14	2016	c.1636A>G	c.(1636-1638)AGT>GGT	p.S546G	APC_uc011cvt.1_Missense_Mutation_p.S528G|APC_uc003kpz.3_Missense_Mutation_p.S546G|APC_uc003kpy.3_Missense_Mutation_p.S546G|APC_uc010jbz.2_Missense_Mutation_p.S263G|APC_uc010jca.2_Intron	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	546	ARM 2.|Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGTTATTGCGAGTGTTTTGAG	0.313		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			G	112164562	A	G	112164562	3	3	20	1	0	0	0	0	1	0	0	0	763	304	11	3	1686	3	APC	5	112164562	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1724563	112164562	68750698	547	18218											
MCC	4163	broad.mit.edu	37	chr5	112379243	112379243	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaccgacgaatggcgttggTgaactccgcagccagctcat	11	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:112379243T>C	uc003kqj.3	-	15	2700	c.2170A>G	c.(2170-2172)ACC>GCC	p.T724A	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.T914A	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	724					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ATGGCGTTGGTGAACTCCGCA	0.557											OREG0016728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	112379243	T	C	112379243	3	2	20	1	0	0	0	0	1	0	0	0	9373	1696	59	3	331	3	MCC	5	112379243	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	214681	112379243	68536017	548	18219											
TSSK1B	83942	broad.mit.edu	37	chr5	112769928	112769928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatgatgtagaggatcacGcctaggctccagatgtcgta	11	10	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:112769928G>A	uc003kqm.2	-	1	801	c.609C>T	c.(607-609)GGC>GGT	p.G203G	MCC_uc003kql.3_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1	203	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|skin(2)|stomach(1)	5		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		AGAGGATCACGCCTAGGCTCC	0.572													A	112769928	G	A	112769928	2	1	20	1	0	0	0	0	0	0	0	1	16665	1074	38	1		1	TSSK1B	5	112769928	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	390685	112769928	68145332	549	18220											
AQPEP	206338	broad.mit.edu	37	chr5	115336805	115336805	+	Frame_Shift_Del	DEL	A	A	-													gttattttgccagcaacaatAaaaaacataatggacagttg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:115336804_115336804TA>T	uc003kro.3	+	9	1852	c.1688_1688TA>T	c.(1687-1689)atafs	p.I563fs	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	563					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										CCAGCAACAATAAAAAACATA	0.388													-	115336805	A	-	115336805	7	5	20	1	0	1	0	1	0	0	0	0	834	352	13	0	1727	0	AQPEP	5	115336805	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	2566877	115336805	65578455	550	18221											
DMXL1	1657	broad.mit.edu	37	chr5	118433795	118433795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactgttcaatgcaacaagGcaaggtttgtaatcttcttc	8	8	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:118433795G>A	uc003ksd.2	+	2	390	c.209G>A	c.(208-210)GGC>GAC	p.G70D	DMXL1_uc010jcl.1_Missense_Mutation_p.G70D|DMXL1_uc003ksc.1_Missense_Mutation_p.G70D	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	70										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATGCAACAAGGCAAGGTTTGT	0.338													A	118433795	G	A	118433795	3	1	20	1	0	0	0	0	1	0	0	0	4594	1203	42	2	215	2	DMXL1	5	118433795	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3096990	118433795	62481465	551	18222											
ADAMTS19	171019	broad.mit.edu	37	chr5	129072766	129072766	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttctgtttcacagctgctcTgactttcaagtgcctgggag	11	10	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:129072766T>G	uc003kvb.1	+	23	3479	c.3479T>G	c.(3478-3480)CTG>CGG	p.L1160R	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1160	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ACAGCTGCTCTGACTTTCAAG	0.458													G	129072766	T	G	129072766	3	3	20	1	0	0	0	0	1	0	0	0	264	1580	55	5	3569	5	ADAMTS19	5	129072766	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	10638971	129072766	51842494	552	18223											
RAPGEF6	51735	broad.mit.edu	37	chr5	131080362	131080362	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagtcgaatctggcttggAtcaaactctggtaaaggcca	10	9	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:131080362A>G	uc003kvp.1	-	2	256	c.114T>C	c.(112-114)GAT>GAC	p.D38D	FNIP1_uc003kvs.1_Silent_p.D38D|FNIP1_uc003kvt.1_Silent_p.D38D|FNIP1_uc010jdm.1_Silent_p.D38D|FNIP1_uc003kvu.2_Silent_p.D38D	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	Error:Variant_position_missing_in_Q8TEU7_after_alignment					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCTGGCTTGGATCAAACTCTG	0.328													G	131080362	A	G	131080362	2	3	20	1	0	0	0	0	0	0	0	1	13048	330	12	3		3	RAPGEF6	5	131080362	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2007596	131080362	49834898	553	18224											
TCF7	6932	broad.mit.edu	37	chr5	133478495	133478495	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgccttcatgctgtacaTgaaggagatgagagccaagg	12	8	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:133478495T>C	uc003kyt.2	+	7	1035	c.839T>C	c.(838-840)ATG>ACG	p.M280T	TCF7_uc003kyu.1_Missense_Mutation_p.M165T|TCF7_uc003kyv.2_Missense_Mutation_p.M165T|TCF7_uc003kyw.2_Missense_Mutation_p.M165T|TCF7_uc003kyx.2_Missense_Mutation_p.M78T|TCF7_uc003kyy.2_Missense_Mutation_p.M165T|TCF7_uc003kyz.2_Missense_Mutation_p.M165T|TCF7_uc003kza.2_Missense_Mutation_p.M165T|TCF7_uc003kzb.2_Missense_Mutation_p.M94T|TCF7_uc010jdu.2_5'Flank	NM_003202	NP_003193	P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific,	280	HMG box.				cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding				0		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGCTGTACATGAAGGAGATG	0.557													C	133478495	T	C	133478495	3	2	20	1	0	0	0	0	1	0	0	0	15693	1464	51	3	865	3	TCF7	5	133478495	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2398133	133478495	47436765	554	18225											
CATSPER3	347732	broad.mit.edu	37	chr5	134305635	134305635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactttttgacaggaggaaCgatgatgaatgtcgggcatt	12	6	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:134305635C>T	uc003lag.2	+	2	173	c.105C>T	c.(103-105)AAC>AAT	p.N35N		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	35	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACAGGAGGAACGATGATGAAT	0.393													T	134305635	C	T	134305635	2	4	20	1	0	0	0	0	0	0	0	1	2689	535	19	1		1	CATSPER3	5	134305635	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	827140	134305635	46609625	555	18226											
CATSPER3	347732	broad.mit.edu	37	chr5	134332192	134332192	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagcttatcggctatagccAgggcatccgggtgagtgcac	13	11	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:134332192A>G	uc003lag.2	+	3	550	c.482A>G	c.(481-483)CAG>CGG	p.Q161R		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	161	Helical; Name=Segment S4; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCTATAGCCAGGGCATCCGG	0.567													G	134332192	A	G	134332192	3	3	20	1	0	0	0	0	1	0	0	0	2689	188	7	3	492	3	CATSPER3	5	134332192	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	26557	134332192	46583068	556	18227											
PKD2L2	27039	broad.mit.edu	37	chr5	137243584	137243584	+	Frame_Shift_Del	DEL	T	T	-													atataattgctattaccatcTtttttgcatggataaaggta							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:137243584delT	uc003lby.2	+	7	1185	c.1129delT	c.(1129-1131)TTTfs	p.F377fs	PKD2L2_uc003lbw.1_Frame_Shift_Del_p.F377fs|PKD2L2_uc003lbx.2_Frame_Shift_Del_p.F377fs|PKD2L2_uc011cyi.1_5'UTR	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	377	Helical; (Potential).					integral to membrane	calcium ion binding|ion channel activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TATTACCATCTTTTTTGCATG	0.269													-	137243584	T	-	137243584	7	5	20	1	0	1	0	1	0	0	0	0	11968	1609	56	0	1155	0	PKD2L2	5	137243584	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	2911392	137243584	43671676	557	18228											
KIF20A	10112	broad.mit.edu	37	chr5	137519724	137519724	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgaacggttgaaggaagcaGgaaacattaacacctctcta	10	8	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:137519724G>T	uc003lcj.2	+	11	1778	c.1282G>T	c.(1282-1284)GGA>TGA	p.G428*	KIF20A_uc011cyo.1_Nonsense_Mutation_p.G410*	NM_005733	NP_005724	O95235	KI20A_HUMAN	kinesin family member 20A	428	Kinesin-motor.				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GAAGGAAGCAGGAAACATTAA	0.502													T	137519724	G	T	137519724	4	4	20	1	0	0	0	0	0	1	0	0	8286	1001	35	5	1320	5	KIF20A	5	137519724	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	276140	137519724	43395536	558	18229											
CDC23	8697	broad.mit.edu	37	chr5	137525405	137525405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atagtactgggccagatagcGaaaggcagtgctttcctcca	11	10	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:137525405G>A	uc003lcl.2	-	15	1571	c.1540C>T	c.(1540-1542)CGC>TGC	p.R514C		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	cell division cycle protein 23	514					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCCAGATAGCGAAAGGCAGTG	0.388													A	137525405	G	A	137525405	3	1	20	1	0	0	0	0	1	0	0	0	3061	1058	37	1	261	1	CDC23	5	137525405	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	5681	137525405	43389855	559	18230											
KDM3B	51780	broad.mit.edu	37	chr5	137710881	137710881	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtcagatgccaatgggTtgcatctgtttcaggtattt	10	8	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:137710881T>C	uc003lcy.1	+	3	660	c.460T>C	c.(460-462)TTG>CTG	p.L154L	KDM3B_uc010jew.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	154					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						TGCCAATGGGTTGCATCTGTT	0.398													C	137710881	T	C	137710881	2	2	20	1	0	0	0	0	0	0	0	1	8127	1722	60	3		3	KDM3B	5	137710881	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	185476	137710881	43204379	560	18231											
HSPA9	3313	broad.mit.edu	37	chr5	137893599	137893599	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttatctttagcagaaacaTgtactatcccattggcatca	5	10	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:137893599T>C	uc003ldf.2	-	13	1700	c.1592A>G	c.(1591-1593)CAT>CGT	p.H531R	HSPA9_uc003lde.2_5'Flank|HSPA9_uc011cyw.1_Intron	NM_004134	NP_004125	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 precursor	531					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCAGAAACATGTACTATCCC	0.428													C	137893599	T	C	137893599	3	2	20	1	0	0	0	0	1	0	0	0	7417	1464	51	3	467	3	HSPA9	5	137893599	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	182718	137893599	43021661	561	18232											
CTNNA1	1495	broad.mit.edu	37	chr5	138253516	138253516	+	Frame_Shift_Del	DEL	A	A	-													tctttttaaagaacaatgggAaaaacaagtccgtgttctca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:138253515_138253515GA>G	uc003ldh.3	+	10	1569	c.1474_1474GA>G	c.(1474-1476)gaafs	p.E492fs	CTNNA1_uc011cyx.2_Frame_Shift_Del_p.E389fs|CTNNA1_uc011cyy.2_Frame_Shift_Del_p.E369fs|CTNNA1_uc003ldi.3_Frame_Shift_Del_p.E190fs|CTNNA1_uc003ldj.3_Frame_Shift_Del_p.E492fs|CTNNA1_uc003ldl.3_Frame_Shift_Del_p.E122fs	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	492					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGAACAATGGGAAAAACAAGT	0.413													-	138253516	A	-	138253516	7	5	20	1	0	1	0	1	0	0	0	0	4012	246	9	0	1513	0	CTNNA1	5	138253516	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	359917	138253516	42661744	562	18233											
CTNNA1	1495	broad.mit.edu	37	chr5	138268334	138268334	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcgccctctactgccaccAgctgaacatctgcagcaagg	8	16	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:138268334A>G	uc003ldh.2	+	17	2461	c.2366A>G	c.(2365-2367)CAG>CGG	p.Q789R	CTNNA1_uc011cyx.1_Missense_Mutation_p.Q686R|CTNNA1_uc011cyy.1_Missense_Mutation_p.Q666R|CTNNA1_uc003ldi.2_Missense_Mutation_p.Q487R|CTNNA1_uc003ldj.2_Missense_Mutation_p.Q789R|CTNNA1_uc003ldl.2_Missense_Mutation_p.Q419R	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	789				Q -> H (in Ref. 1; BAA03530).	adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TACTGCCACCAGCTGAACATC	0.572													G	138268334	A	G	138268334	3	3	20	1	0	0	0	0	1	0	0	0	4012	188	7	3	2428	3	CTNNA1	5	138268334	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	14818	138268334	42646926	563	18234											
APBB3	10307	broad.mit.edu	37	chr5	139941778	139941778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggattcactaggctcatgGcatccttcttcaggatcatc	10	11	5	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:139941778G>A	uc003lgd.1	-	6	892	c.533C>T	c.(532-534)GCC>GTC	p.A178V	APBB3_uc003lgb.1_5'UTR|APBB3_uc003lgc.1_5'UTR|APBB3_uc003lge.1_Missense_Mutation_p.A178V|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_5'UTR|APBB3_uc010jfq.1_5'Flank|SLC35A4_uc003lgg.1_5'Flank|SLC35A4_uc003lgh.1_5'Flank	NM_133172	NP_573418	O95704	APBB3_HUMAN	amyloid beta precursor protein-binding, family	178	PID 1.					actin cytoskeleton|cytoplasm				ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGCTCATGGCATCCTTCTT	0.557													A	139941778	G	A	139941778	3	1	20	1	0	0	0	0	1	0	0	0	762	1203	42	2	976	2	APBB3	5	139941778	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1673444	139941778	40973482	564	18235											
TMCO6	55374	broad.mit.edu	37	chr5	140023147	140023147	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttgcttcctgttgcccAgccaggtcagcaatcctctg	9	15	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140023147A>G	uc003lgl.2	+	8	908	c.807_splice	c.e8-2	p.S269_splice	TMCO6_uc003lgm.2_Splice_Site_p.S275_splice|TMCO6_uc010jft.2_Splice_Site_p.S29_splice|TMCO6_uc003lgn.2_Splice_Site_p.S160_splice|TMCO6_uc003lgo.2_Splice_Site_p.S29_splice	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6						protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGTTGCCCAGCCAGGTCAG	0.453													G	140023147	A	G	140023147	5	3	20	1	0	0	0	0	0	0	1	0	15997	202	7	3	835	3	TMCO6	5	140023147	Splice_Site	SNP	A	TCGA-BR-4362-01A-01D-1158-08	81369	140023147	40892113	565	18236											
PCDHA4	56144	broad.mit.edu	37	chr5	140188686	140188686	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacaacgcgtgccctggaCgaaacggacgctccgcgcca	12	16	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140188686C>T	uc003lhi.2	+	1	2015	c.1914C>T	c.(1912-1914)GAC>GAT	p.D638D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.D638D|PCDHA4_uc011daa.1_Silent_p.D638D	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	638	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCCTGGACGAAACGGACG	0.677													T	140188686	C	T	140188686	2	4	20	1	0	0	0	0	0	0	0	1	11526	535	19	1		1	PCDHA4	5	140188686	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	165539	140188686	40726574	566	18237											
PCDHA5	56143	broad.mit.edu	37	chr5	140202575	140202575	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttcaagaattactactcGttggtgctggacagcgccct	9	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140202575G>A	uc003lhl.2	+	1	1215	c.1215G>A	c.(1213-1215)TCG>TCA	p.S405S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.S405S|PCDHA5_uc003lhj.1_Silent_p.S405S	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	405	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTACTACTCGTTGGTGCTGG	0.642													A	140202575	G	A	140202575	2	1	20	1	0	0	0	0	0	0	0	1	11527	1132	40	1		1	PCDHA5	5	140202575	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	13889	140202575	40712685	567	18238											
PCDHA12	56137	broad.mit.edu	37	chr5	140257241	140257241	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttgctcagcgccgcccacCgtgagccggtgcgcgccggg	16	17	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140257241C>T	uc003lic.2	+	1	2311	c.2184C>T	c.(2182-2184)ACC>ACT	p.T728T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.T728T	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	728	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCGCCCACCGTGAGCCGGT	0.647													T	140257241	C	T	140257241	2	4	20	1	0	0	0	0	0	0	0	1	11522	639	23	1		1	PCDHA12	5	140257241	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	54666	140257241	40658019	568	18239											
PCDHB4	56131	broad.mit.edu	37	chr5	140503797	140503797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcatctggtggacgtaagCggcaccgggaccctgtccca	15	13	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140503797C>T	uc003lip.1	+	1	2217	c.2217C>T	c.(2215-2217)AGC>AGT	p.S739S		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	739	Cytoplasmic (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)			TGGACGTAAGCGGCACCGGGA	0.622													T	140503797	C	T	140503797	2	4	20	1	0	0	0	0	0	0	0	1	11544	767	27	1		1	PCDHB4	5	140503797	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	246556	140503797	40411463	569	18240											
PCDHB8	56128	broad.mit.edu	37	chr5	140559636	140559636	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagccctacctgccgcTtccggaggctgccccagccc	9	22	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140559636T>C	uc011dai.1	+	1	2207	c.2021T>C	c.(2020-2022)CTT>CCT	p.L674P	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	674	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACCTGCCGCTTCCGGAGGCT	0.672													C	140559636	T	C	140559636	3	2	20	1	0	0	0	0	1	0	0	0	11548	1609	56	3	2023	3	PCDHB8	5	140559636	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	55839	140559636	40355624	570	18241											
PCDHB16	57717	broad.mit.edu	37	chr5	140562237	140562237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagttggggtcctattccGtagtggaagaaacggagaga	15	7	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140562237G>A	uc003liv.2	+	1	1258	c.103G>A	c.(103-105)GTA>ATA	p.V35I	PCDHB16_uc010jfw.1_Intron	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	35	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCCTATTCCGTAGTGGAAGA	0.522													A	140562237	G	A	140562237	3	1	20	1	0	0	0	0	1	0	0	0	11541	1145	40	1	105	1	PCDHB16	5	140562237	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2601	140562237	40353023	571	18242											
PCDHB11	56125	broad.mit.edu	37	chr5	140580848	140580848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacctgcacctgcccctcGcctccctggtctccatcaac	7	20	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140580848G>A	uc003liy.2	+	1	1501	c.1501G>A	c.(1501-1503)GCC>ACC	p.A501T	PCDHB11_uc011daj.1_Missense_Mutation_p.A136T	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	501	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCCCCTCGCCTCCCTGGT	0.647													A	140580848	G	A	140580848	3	1	20	1	0	0	0	0	1	0	0	0	11536	1087	38	1	1503	1	PCDHB11	5	140580848	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	18611	140580848	40334412	572	18243											
PCDHB13	56123	broad.mit.edu	37	chr5	140594607	140594607	+	Frame_Shift_Del	DEL	A	A	-													ttgacaggagaaattgaactAaaaaaacaactcgatttcga							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140594606_140594606TA>T	uc003lja.1	+	0	1098	c.911_911TA>T	c.(910-912)ctafs	p.L304fs		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	304	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAATTGAACTAAAAAAACAA	0.388													-	140594607	A	-	140594607	7	5	20	1	0	1	0	1	0	0	0	0	11538	349	13	0	914	0	PCDHB13	5	140594607	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	13759	140594607	40320653	573	18244											
PCDHB15	56121	broad.mit.edu	37	chr5	140626735	140626735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcaggctttcgagttccGcgtgggcgccacagaccgcg	14	15	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140626735G>A	uc003lje.2	+	1	1589	c.1589G>A	c.(1588-1590)CGC>CAC	p.R530H		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	530	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGAGTTCCGCGTGGGCGCC	0.662													A	140626735	G	A	140626735	3	1	20	1	0	0	0	0	1	0	0	0	11540	1087	38	1	1591	1	PCDHB15	5	140626735	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	32128	140626735	40288525	574	18245											
SLC25A2	83884	broad.mit.edu	37	chr5	140683099	140683099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaggcgaaggaccccgCggctgcagtctggagatcac	15	12	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140683099C>T	uc003ljf.2	-	1	514	c.334G>A	c.(334-336)GCG>ACG	p.A112T		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 member 2	112	Helical; Name=3; (Potential).|Solcar 2.				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			ovary(1)	1		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AAGGACCCCGCGGCTGCAGTC	0.557													T	140683099	C	T	140683099	3	4	20	1	0	0	0	0	1	0	0	0	14482	768	27	1	575	1	SLC25A2	5	140683099	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	56364	140683099	40232161	575	18246											
PCDHGA6	56109	broad.mit.edu	37	chr5	140756049	140756049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcaggatttacttgaaaCgaaaggagaacccaggcaac	9	9	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140756049C>T	uc003ljy.1	+	1	2399	c.2399C>T	c.(2398-2400)ACG>ATG	p.T800M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.T800M	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	800	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACTTGAAACGAAAGGAGAA	0.483													T	140756049	C	T	140756049	3	4	20	1	0	0	0	0	1	0	0	0	11558	536	19	1	2401	1	PCDHGA6	5	140756049	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	72950	140756049	40159211	576	18247											
PCDHGB5	56101	broad.mit.edu	37	chr5	140779417	140779417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgctcttcgatatggtgCcgcgcgctgcagagcccggc	14	15	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140779417C>T	uc003lkf.1	+	1	1723	c.1723C>T	c.(1723-1725)CCG>TCG	p.P575S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.P575S	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	575	Cadherin 6.|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)			CGATATGGTGCCGCGCGCTGC	0.672													T	140779417	C	T	140779417	3	4	20	1	0	0	0	0	1	0	0	0	11566	739	26	2	1725	2	PCDHGB5	5	140779417	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	23368	140779417	40135843	577	18248											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811041	140811041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggatgcgaacgacaacGcaccagcgtttgctcagccc	10	14	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140811041G>A	uc003lkt.1	+	1	884	c.715G>A	c.(715-717)GCA>ACA	p.A239T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.A239T	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	239	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCACCAGCGTT	0.662													A	140811041	G	A	140811041	3	1	20	1	0	0	0	0	1	0	0	0	11553	1087	38	1	717	1	PCDHGA12	5	140811041	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	31624	140811041	40104219	578	18249											
PCDH1	5097	broad.mit.edu	37	chr5	141243692	141243692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctgccacctggctgaccGtctcaccaagacgtgtctgg	12	15	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:141243692G>A	uc003llq.2	-	3	2321	c.2204C>T	c.(2203-2205)ACG>ATG	p.T735M	PCDH1_uc003llp.2_Missense_Mutation_p.T735M|PCDH1_uc011dbf.1_Missense_Mutation_p.T713M	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	735	Extracellular (Potential).|Cadherin 7.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTGGCTGACCGTCTCACCAAG	0.542													A	141243692	G	A	141243692	3	1	20	1	0	0	0	0	1	0	0	0	11506	1145	40	1	1605	1	PCDH1	5	141243692	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	432651	141243692	39671568	579	18250											
RBM27	54439	broad.mit.edu	37	chr5	145650551	145650551	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attagatactgaactggaccTccacaagaggctgtcctcag	9	11	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:145650551T>G	uc003lnz.3	+	18	2892	c.2726T>G	c.(2725-2727)CTC>CGC	p.L909R		NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	909					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			central_nervous_system(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAACTGGACCTCCACAAGAGG	0.408													G	145650551	T	G	145650551	3	3	20	1	0	0	0	0	1	0	0	0	13127	1551	54	5	2796	5	RBM27	5	145650551	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	4406859	145650551	35264709	580	18251											
SH3TC2	79628	broad.mit.edu	37	chr5	148386495	148386495	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgataatacaccttggcataGtacagggcctccttgggact	10	11	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:148386495G>C	uc003lpu.2	-	16	3776	c.3624C>G	c.(3622-3624)TAC>TAG	p.Y1208*	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Nonsense_Mutation_p.Y852*|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Nonsense_Mutation_p.Y755*|SH3TC2_uc010jgx.2_Nonsense_Mutation_p.Y1201*	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1208							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTGGCATAGTACAGGGCCT	0.547													C	148386495	G	C	148386495	4	2	20	1	0	0	0	0	0	1	0	0	14262	1024	36	5	250	5	SH3TC2	5	148386495	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2735944	148386495	32528765	581	18252											
ARSI	340075	broad.mit.edu	37	chr5	149677000	149677000	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaccgggatggctgtgcggTtatattcggccaggcgagcc	16	10	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:149677000T>C	uc003lrv.2	-	2	2076	c.1487A>G	c.(1486-1488)AAC>AGC	p.N496S		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	496						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCTGTGCGGTTATATTCGGC	0.622													C	149677000	T	C	149677000	3	2	20	1	0	0	0	0	1	0	0	0	994	1725	60	3	226	3	ARSI	5	149677000	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1290505	149677000	31238260	582	18253											
TCOF1	6949	broad.mit.edu	37	chr5	149776323	149776323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggacgagccagaagaggaGcttcagaaggggatggggac	18	6	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:149776323G>A	uc003lry.2	+	24	4368	c.4260G>A	c.(4258-4260)GAG>GAA	p.E1420E	TCOF1_uc011dch.1_Silent_p.E1383E|TCOF1_uc003lrz.2_Silent_p.E1382E|TCOF1_uc003lrx.2_Silent_p.E1344E|TCOF1_uc003lsa.2_Silent_p.E1343E	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1420					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGAAGAGGAGCTTCAGAAGG	0.527													A	149776323	G	A	149776323	2	1	20	1	0	0	0	0	0	0	0	1	15705	962	34	2		2	TCOF1	5	149776323	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	99323	149776323	31138937	583	18254											
NDST1	3340	broad.mit.edu	37	chr5	149901204	149901204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgctcactgacaagggcCgtggccgcttcgccctcatc	10	18	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:149901204C>T	uc003lsk.3	+	2	890	c.388C>T	c.(388-390)CGT>TGT	p.R130C	NDST1_uc011dcj.1_Missense_Mutation_p.R130C|NDST1_uc003lsl.2_Missense_Mutation_p.R130C	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	130	Heparan sulfate N-deacetylase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACAAGGGCCGTGGCCGCTT	0.607													T	149901204	C	T	149901204	3	4	20	1	0	0	0	0	1	0	0	0	10255	652	23	1	390	1	NDST1	5	149901204	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	124881	149901204	31014056	584	18255											
NDST1	3340	broad.mit.edu	37	chr5	149921174	149921174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaagacatctggtccaagGagaagacgtgtgaccgcttc	11	10	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:149921174G>A	uc003lsk.3	+	9	2294	c.1792G>A	c.(1792-1794)GAG>AAG	p.E598K	NDST1_uc011dcj.1_Missense_Mutation_p.E598K	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	598	Heparan sulfate N-deacetylase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGTCCAAGGAGAAGACGTG	0.577													A	149921174	G	A	149921174	3	1	20	1	0	0	0	0	1	0	0	0	10255	1175	41	4	1822	4	NDST1	5	149921174	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	19970	149921174	30994086	585	18256											
FAT2	2196	broad.mit.edu	37	chr5	150946762	150946762	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attatcgatttccctactggCcagtcttggcggatagaccc	9	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:150946762C>T	uc003lue.3	-	1	1744	c.1731G>A	c.(1729-1731)TGG>TGA	p.W577*	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Nonsense_Mutation_p.W577*	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	577	Extracellular (Potential).|Cadherin 5.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCTACTGGCCAGTCTTGGC	0.428													T	150946762	C	T	150946762	4	4	20	1	0	0	0	0	0	1	0	0	5690	740	26	2	11410	2	FAT2	5	150946762	Nonsense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1025588	150946762	29968498	586	18257											
FAT2	2196	broad.mit.edu	37	chr5	150948282	150948282	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccccagagatgatccggtAcctcactgcccactgtggct	9	15	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:150948282A>G	uc003lue.3	-	1	224	c.211T>C	c.(211-213)TAC>CAC	p.Y71H	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.Y71H	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	71	Extracellular (Potential).|Cadherin 1.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGATCCGGTACCTCACTGCC	0.478													G	150948282	A	G	150948282	3	3	20	1	0	0	0	0	1	0	0	0	5690	391	14	3	12930	3	FAT2	5	150948282	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1520	150948282	29966978	587	18258											
G3BP1	10146	broad.mit.edu	37	chr5	151179453	151179453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttaaaatttttcagcccCgtccagagtctaagcctgaa	6	11	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:151179453C>T	uc003lun.2	+	9	1018	c.847C>T	c.(847-849)CGT>TGT	p.R283C	G3BP1_uc003lum.2_Missense_Mutation_p.R283C|G3BP1_uc011dcu.1_Missense_Mutation_p.R101C|G3BP1_uc010jhz.2_Missense_Mutation_p.R101C|G3BP1_uc003luq.2_Intron	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	283					Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TTTTCAGCCCCGTCCAGAGTC	0.388													T	151179453	C	T	151179453	3	4	20	1	0	0	0	0	1	0	0	0	6141	652	23	1	877	1	G3BP1	5	151179453	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	231171	151179453	29735807	588	18259											
LARP1	23367	broad.mit.edu	37	chr5	154173390	154173391	+	Frame_Shift_Ins	INS	-	-	C													gccacctacgtgcccgtggcINScccccccaccccagcctggc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:154173389_154173390G>GC	uc003lvo.3	+	5	691_692	c.667_668G>GC	c.(667-669)gccfs	p.A223fs	LARP1_uc021ygh.1_Frame_Shift_Ins_p.A95fs|LARP1_uc021ygi.1_Frame_Shift_Ins_p.A300fs|LARP1_uc010jie.1_Frame_Shift_Ins_p.A95fs	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	300							RNA binding|protein binding	p.T303fs*19(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGTGCCCGTGGCCCCCCCCACC	0.644													C	154173391	-	C	154173390	7	5	20	1	0	1	1	0	0	0	0	0	8628	739	26	0	690	0	LARP1	5	154173390	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	2993937	154173390	26741870	589	18260											
GEMIN5	25929	broad.mit.edu	37	chr5	154284999	154284999	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttttgacttttcaaagccTgaggaaactggagtgcagat	10	7	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:154284999T>C	uc003lvx.3	-	17	2516	c.2433A>G	c.(2431-2433)TCA>TCG	p.S811S	GEMIN5_uc011ddk.1_Silent_p.S810S	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	811					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	p.S811L(1)		skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTCAAAGCCTGAGGAAACTG	0.343													C	154284999	T	C	154284999	2	2	20	1	0	0	0	0	0	0	0	1	6331	1567	55	3		3	GEMIN5	5	154284999	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	111609	154284999	26630261	590	18261											
KIF4B	285643	broad.mit.edu	37	chr5	154395130	154395130	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagaattagaagtcatcaatCtgcaaaaggaaaaggaagaa	9	4	3	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:154395130C>T	uc010jih.1	+	1	1871	c.1711C>T	c.(1711-1713)CTG>TTG	p.L571L		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	571	Potential.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGTCATCAATCTGCAAAAGGA	0.423													T	154395130	C	T	154395130	2	4	20	1	0	0	0	0	0	0	0	1	8304	912	32	4		4	KIF4B	5	154395130	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	110131	154395130	26520130	591	18262											
FAM71B	153745	broad.mit.edu	37	chr5	156592737	156592737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaactgcagataaaaagtaCggccagtggcgagtttcagg	12	8	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:156592737C>T	uc003lwn.2	-	1	543	c.443G>A	c.(442-444)CGT>CAT	p.R148H		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	148						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATAAAAAGTACGGCCAGTGGC	0.478													T	156592737	C	T	156592737	3	4	20	1	0	0	0	0	1	0	0	0	5608	536	19	1	1382	1	FAM71B	5	156592737	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2197607	156592737	24322523	592	18263											
ADAM19	8728	broad.mit.edu	37	chr5	156964960	156964960	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttgagggttaccacttgaAgtataatgggtttctgtgta	12	4	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:156964960A>C	uc003lwz.2	-	4	355	c.291T>G	c.(289-291)ACT>ACG	p.T97T	ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_Silent_p.T28T	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	97					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TACCACTTGAAGTATAATGGG	0.443													C	156964960	A	C	156964960	2	2	20	1	0	0	0	0	0	0	0	1	240	59	3	5		5	ADAM19	5	156964960	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	372223	156964960	23950300	593	18264											
THG1L	54974	broad.mit.edu	37	chr5	157164949	157164949	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgaattcaacatcaacTataataatgagctgccgatg	6	8	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:157164949T>C	uc003lxd.2	+	5	808	c.682T>C	c.(682-684)TAT>CAT	p.Y228H	THG1L_uc011ddu.1_Missense_Mutation_p.Y96H	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	interphase cytoplasmic foci protein 45	228					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAACATCAACTATAATAATGA	0.343													C	157164949	T	C	157164949	3	2	20	1	0	0	0	0	1	0	0	0	15858	1522	53	3	700	3	THG1L	5	157164949	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	199989	157164949	23750311	594	18265											
C1QTNF2	114898	broad.mit.edu	37	chr5	159781796	159781796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctctccgctgtccccccGgtcgccgtcgtgtccatctt	8	19	2	0	rs115558158	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:159781796G>A	uc003lyd.2	-	2	362	c.358C>T	c.(358-360)CGG>TGG	p.R120W		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	75	Collagen-like.					collagen				skin(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGTCCCCCCGGTCGCCGTCG	0.632													A	159781796	G	A	159781796	3	1	20	1	0	0	0	0	1	0	0	0	1963	1115	39	1	642	1	C1QTNF2	5	159781796	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2616847	159781796	21133464	595	18266											
C1QTNF2	114898	broad.mit.edu	37	chr5	159781937	159781937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttgaggggagcctttccGgaagtccctgcgagcaaagg	15	10	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:159781937G>A	uc003lyd.2	-	2	221	c.217C>T	c.(217-219)CGG>TGG	p.R73W		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	28						collagen				skin(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGCCTTTCCGGAAGTCCCTG	0.682													A	159781937	G	A	159781937	3	1	20	1	0	0	0	0	1	0	0	0	1963	1115	39	1	783	1	C1QTNF2	5	159781937	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	141	159781937	21133323	596	18267											
ATP10B	23120	broad.mit.edu	37	chr5	160076199	160076199	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tataacccttaaatttgttgAggtggttgttgggtttctca	10	5	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:160076199A>T	uc003lym.1	-	8	1587	c.740T>A	c.(739-741)CTC>CAC	p.L247H	ATP10B_uc003lyp.2_Missense_Mutation_p.L247H|ATP10B_uc011deg.1_Missense_Mutation_p.L291H|ATP10B_uc003lyo.2_Missense_Mutation_p.L219H	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	247	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAATTTGTTGAGGTGGTTGTT	0.398													T	160076199	A	T	160076199	3	4	20	1	0	0	0	0	1	0	0	0	1117	304	11	5	3721	5	ATP10B	5	160076199	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	294262	160076199	20839061	597	18268											
GABRA1	2554	broad.mit.edu	37	chr5	161292772	161292772	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tatcttcgtcaccagtttcgGacccgtttcagaccatgata	7	12	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:161292772G>T	uc010jiw.2	+	5	701	c.233G>T	c.(232-234)GGA>GTA	p.G78V	GABRA1_uc010jix.2_Missense_Mutation_p.G78V|GABRA1_uc010jiy.2_Missense_Mutation_p.G78V|GABRA1_uc003lyx.3_Missense_Mutation_p.G78V|GABRA1_uc010jiz.2_Missense_Mutation_p.G78V|GABRA1_uc010jja.2_Missense_Mutation_p.G78V|GABRA1_uc010jjb.2_Missense_Mutation_p.G78V	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	78	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	ACCAGTTTCGGACCCGTTTCA	0.373													T	161292772	G	T	161292772	3	4	20	1	0	0	0	0	1	0	0	0	6160	1174	41	5	243	5	GABRA1	5	161292772	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1216573	161292772	19622488	598	18269											
NUDCD2	134492	broad.mit.edu	37	chr5	162887021	162887021	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccacggggtcccgcacggTaccaccccactccgctcctc	8	23	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:162887021T>C	uc003lze.2	-	1	123	c.36A>G	c.(34-36)GTA>GTG	p.V12V	HMMR_uc003lzh.2_5'Flank|HMMR_uc003lzf.2_5'Flank|HMMR_uc003lzg.2_5'Flank|HMMR_uc011dem.1_5'Flank	NM_145266	NP_660309	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	12						intracellular					0	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		TCCCGCACGGTACCACCCCAC	0.687													C	162887021	T	C	162887021	2	2	20	1	0	0	0	0	0	0	0	1	10723	1625	57	3		3	NUDCD2	5	162887021	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1594249	162887021	18028239	599	18270											
CPEB4	80315	broad.mit.edu	37	chr5	173383109	173383109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaaggaaggcggtgaccGccctcggcatatttcattcc	13	11	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:173383109G>A	uc003mcs.3	+	10	3565	c.2159G>A	c.(2158-2160)CGC>CAC	p.R720H	CPEB4_uc010jjv.2_Missense_Mutation_p.R703H|CPEB4_uc011dfg.1_Missense_Mutation_p.R695H|CPEB4_uc003mct.3_Missense_Mutation_p.R330H|CPEB4_uc003mcu.3_Missense_Mutation_p.R313H	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	720							nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCGGTGACCGCCCTCGGCAT	0.502													A	173383109	G	A	173383109	3	1	20	1	0	0	0	0	1	0	0	0	3803	1087	38	1	2197	1	CPEB4	5	173383109	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	10496088	173383109	7532151	600	18271											
SFXN1	94081	broad.mit.edu	37	chr5	174937167	174937167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagtccttcaatgccgtcGtcaattacaccaacagaagt	6	13	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:174937167G>A	uc003mda.2	+	4	529	c.391G>A	c.(391-393)GTC>ATC	p.V131I	SFXN1_uc003mdb.1_Missense_Mutation_p.V70I	NM_022754	NP_073591	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	131					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			ovary(1)	1	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAATGCCGTCGTCAATTACAC	0.498													A	174937167	G	A	174937167	3	1	20	1	0	0	0	0	1	0	0	0	14194	1145	40	1	401	1	SFXN1	5	174937167	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1554058	174937167	5978093	601	18272											
COL23A1	91522	broad.mit.edu	37	chr5	177682023	177682023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcgcccttgaggcctgggGcaccctgaggcaggaagaag	16	12	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:177682023G>A	uc003mje.2	-	16	1245	c.887C>T	c.(886-888)GCC>GTC	p.A296V	COL23A1_uc010jkt.2_Missense_Mutation_p.A178V	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	296	Extracellular (Potential).|Collagen-like 2.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		GAGGCCTGGGGCACCCTGAGG	0.547													A	177682023	G	A	177682023	3	1	20	1	0	0	0	0	1	0	0	0	3682	1203	42	2	791	2	COL23A1	5	177682023	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2744856	177682023	3233237	602	18273											
COL23A1	91522	broad.mit.edu	37	chr5	177987735	177987735	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagcagtccggatcttcgcTagtccgtccaacttctgagc	10	14	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:177987735T>C	uc003mje.2	-	2	667	c.309A>G	c.(307-309)CTA>CTG	p.L103L		NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	103	Extracellular (Potential).|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		GGATCTTCGCTAGTCCGTCCA	0.502													C	177987735	T	C	177987735	2	2	20	1	0	0	0	0	0	0	0	1	3682	1509	53	3		3	COL23A1	5	177987735	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	305712	177987735	2927525	603	18274											
HNRNPH1	3187	broad.mit.edu	37	chr5	179044087	179044089	+	In_Frame_Del	DEL	AAG	AAG	-													ttgctcctgctgtagaattcAagaagagttctacatatctg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:179044086_179044088CAAG>C	uc021yjd.1	-	8	1112_1114	c.1081_1083CTTG>G	c.(1081-1083)ttg>G	p.L361del	HNRNPH1_uc011dgn.2_In_Frame_Del_p.L91del|HNRNPH1_uc003mkf.4_In_Frame_Del_p.L361del|HNRNPH1_uc003mkg.4_In_Frame_Del_p.L269del|HNRNPH1_uc003mke.4_In_Frame_Del_p.L361del|HNRNPH1_uc003mkh.4_In_Frame_Del_p.L361del	NM_005520	NP_005511	P31943	HNRH1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H1 (H) (HNRNPH1), mRNA.	361	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.|RRM 3.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CTGTAGAATTCAAGAAGAGTTCT	0.34													-	179044089	AAG	-	179044087	7	5	20	1	0	1	0	1	0	0	0	0	7266	131	5	0	283	0	HNRNPH1	5	179044087	In_Frame_Del	DEL	AAG	TCGA-BR-4362-01A-01D-1158-08	1056352	179044087	1871173	604	18275											
FLT4	2324	broad.mit.edu	37	chr5	180048190	180048190	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaagcactgcatctccaGcgagtcgctcacgttcacca	7	17	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:180048190G>A	uc003mma.3	-	14	2162	c.2083C>T	c.(2083-2085)CTG>TTG	p.L695L	FLT4_uc003mlz.3_Silent_p.L695L|FLT4_uc003mmb.1_Silent_p.L228L|FLT4_uc011dgy.1_Silent_p.L695L	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	695	Ig-like C2-type 7.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGCATCTCCAGCGAGTCGCTC	0.647									Congenital_Hereditary_Lymphedema				A	180048190	G	A	180048190	2	1	20	1	0	0	0	0	0	0	0	1	5944	962	34	2		2	FLT4	5	180048190	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1004103	180048190	867070	605	18276											
MGAT1	4245	broad.mit.edu	37	chr5	180218991	180218991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttgataaacttgaggtgCtggtcaaagaactgcccgtg	12	8	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:180218991C>T	uc003mmg.3	-	2	1476	c.981G>A	c.(979-981)CAG>CAA	p.Q327Q	MGAT1_uc010jlf.2_Silent_p.Q327Q|MGAT1_uc010jlg.2_Silent_p.Q327Q|MGAT1_uc003mmh.3_Silent_p.Q327Q|MGAT1_uc010jlh.2_Silent_p.Q327Q|MGAT1_uc003mmi.3_Silent_p.Q327Q	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	327	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(1)	1	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTTGAGGTGCTGGTCAAAGA	0.597													T	180218991	C	T	180218991	2	4	20	1	0	0	0	0	0	0	0	1	9542	796	28	2		2	MGAT1	5	180218991	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	170801	180218991	696269	606	18277											
BTNL9	153579	broad.mit.edu	37	chr5	180486594	180486594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccctgcgcgtgcccccgcGgcgcctgggcgtcttcctgg	14	19	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:180486594G>A	uc003mmt.2	+	11	1571	c.1340G>A	c.(1339-1341)CGG>CAG	p.R447Q		NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9 precursor	447	Cytoplasmic (Potential).|B30.2/SPRY.					integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(89;2.45e-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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGCCCCCGCGGCGCCTGGGC	0.692													A	180486594	G	A	180486594	3	1	20	1	0	0	0	0	1	0	0	0	1568	1116	39	1	1378	1	BTNL9	5	180486594	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	267603	180486594	428666	607	18278											
HUS1B	135458	broad.mit.edu	37	chr6	656665	656665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggaggacgcgcccgctgCgcttctcgccgcccgggaca	15	17	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:656665C>T	uc003mtg.2	-	1	300	c.280G>A	c.(280-282)GCA>ACA	p.A94T	EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint protein B	94											0	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GCGCCCGCTGCGCTTCTCGCC	0.692													T	656665	C	T	656665	3	4	20	1	0	0	0	0	1	0	0	0	7460	768	27	1	560	1	HUS1B	6	656665	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08		656665	170458402	608	18279											
HUS1B	135458	broad.mit.edu	37	chr6	656846	656846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggctgtcagggcgcacGcggagcacgcagaccttcgc	14	15	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:656846G>A	uc003mtg.2	-	1	119	c.99C>T	c.(97-99)CGC>CGT	p.R33R	EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint protein B	33											0	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CAGGGCGCACGCGGAGCACGC	0.662													A	656846	G	A	656846	2	1	20	1	0	0	0	0	0	0	0	1	7460	1074	38	1		1	HUS1B	6	656846	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	181	656846	170458221	609	18280											
FOXF2	2295	broad.mit.edu	37	chr6	1390547	1390547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcccagcaagcgcctgaCgctcagcgagatctaccagt	10	16	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:1390547C>T	uc003mtm.2	+	1	479	c.365C>T	c.(364-366)ACG>ATG	p.T122M	FOXF2_uc003mtn.2_Missense_Mutation_p.T122M	NM_001452	NP_001443	Q12947	FOXF2_HUMAN	forkhead box F2	122	Fork-head.				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		AAGCGCCTGACGCTCAGCGAG	0.652													T	1390547	C	T	1390547	3	4	20	1	0	0	0	0	1	0	0	0	6006	536	19	1	367	1	FOXF2	6	1390547	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	733701	1390547	169724520	610	18281											
RIPK1	8737	broad.mit.edu	37	chr6	3085497	3085497	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctttgctttgtagatgcTatctgtgagcagcagttgat	11	6	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:3085497T>C	uc010jni.2	+	6	925	c.693T>C	c.(691-693)GCT>GCC	p.A231A	RIPK1_uc003muv.3_Silent_p.A68A|RIPK1_uc003muw.3_Silent_p.A166A|RIPK1_uc011dhs.1_Silent_p.A185A|RIPK1_uc003mux.2_Silent_p.A231A	NM_003804	NP_003795	Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine	231	Protein kinase.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			large_intestine(3)|lung(1)|skin(1)	5	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TTGTAGATGCTATCTGTGAGC	0.438													C	3085497	T	C	3085497	2	2	20	1	0	0	0	0	0	0	0	1	13380	1509	53	3		3	RIPK1	6	3085497	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1694950	3085497	168029570	611	18282											
PRPF4B	8899	broad.mit.edu	37	chr6	4044084	4044084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatagcaacatgtctgTgccatctgaaccaagcagcc	9	11	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:4044084T>C	uc003mvv.2	+	6	1779	c.1688T>C	c.(1687-1689)GTG>GCG	p.V563A	PRPF4B_uc003mvw.2_RNA|PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	563						catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AACATGTCTGTGCCATCTGAA	0.393													C	4044084	T	C	4044084	3	2	20	1	0	0	0	0	1	0	0	0	12573	1696	59	3	1710	3	PRPF4B	6	4044084	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	958587	4044084	167070983	612	18283											
SYCP2L	221711	broad.mit.edu	37	chr6	10935386	10935386	+	Frame_Shift_Del	DEL	T	T	-													aaattccaagatagttttgcTtttttgactgctgaagattc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:10935385_10935385CT>C	uc003mzo.3	+	20	2074	c.1778_1778CT>C	c.(1777-1779)gctfs	p.A593fs	SYCP2L_uc010jow.3_Frame_Shift_Del_p.A213fs	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	593						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GATAGTTTTGCTTTTTTGACT	0.348													-	10935386	T	-	10935386	7	5	20	1	0	1	0	1	0	0	0	0	15430	1596	56	0	1861	0	SYCP2L	6	10935386	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	6891302	10935386	160179681	613	18284											
NUP153	9972	broad.mit.edu	37	chr6	17629625	17629625	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccagaatcggatgacacAcctattttgaatcctccctg	7	13	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:17629625A>G	uc003ncd.1	-	18	3005	c.2805T>C	c.(2803-2805)GGT>GGC	p.G935G	NUP153_uc011dje.1_Silent_p.G966G|NUP153_uc010jpl.1_Silent_p.G893G	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	935					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CGGATGACACACCTATTTTGA	0.378													G	17629625	A	G	17629625	2	3	20	1	0	0	0	0	0	0	0	1	10755	146	6	3		3	NUP153	6	17629625	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	6694239	17629625	153485442	614	18285											
GPLD1	2822	broad.mit.edu	37	chr6	24436838	24436838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggagttatccatgatttgCatttgccagtcatgtcacca	8	9	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:24436838C>T	uc003ned.1	-	22	2435	c.2324G>A	c.(2323-2325)TGC>TAC	p.C775Y		NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	775						extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						CCATGATTTGCATTTGCCAGT	0.408													T	24436838	C	T	24436838	3	4	20	1	0	0	0	0	1	0	0	0	6614	710	25	2	214	2	GPLD1	6	24436838	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	6807213	24436838	146678229	615	18286											
KIAA0319	9856	broad.mit.edu	37	chr6	24569143	24569143	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaatattttccatctccActgcactggggcctctataa	6	12	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:24569143A>G	uc011djo.1	-	13	2243	c.2006T>C	c.(2005-2007)GTG>GCG	p.V669A	KIAA0319_uc011djp.1_Missense_Mutation_p.V624A|KIAA0319_uc003neh.1_Missense_Mutation_p.V669A|KIAA0319_uc011djq.1_Missense_Mutation_p.V660A|KIAA0319_uc011djr.1_Missense_Mutation_p.V669A|KIAA0319_uc010jpt.1_Missense_Mutation_p.V80A	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	669	PKD 4.|Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2						TTCCATCTCCACTGCACTGGG	0.473													G	24569143	A	G	24569143	3	3	20	1	0	0	0	0	1	0	0	0	8168	159	6	3	1248	3	KIAA0319	6	24569143	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	132305	24569143	146545924	616	18287											
HIST1H1A	3024	broad.mit.edu	37	chr6	26017954	26017954	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggggcgggaggcactgtttCagacatggtgactaacacag	16	8	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:26017954C>T	uc003nfo.2	-	1	87	c.7G>A	c.(7-9)GAA>AAA	p.E3K	HIST1H3A_uc003nfp.1_5'Flank	NM_005325	NP_005316	Q02539	H11_HUMAN	histone cluster 1, H1a	3					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			ovary(2)	2						GGCACTGTTTCAGACATGGTG	0.517											OREG0017237	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	26017954	C	T	26017954	3	4	20	1	0	0	0	0	1	0	0	0	7122	835	29	4	644	4	HIST1H1A	6	26017954	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1448811	26017954	145097113	617	18288											
HIST1H4G	8369	broad.mit.edu	37	chr6	26247036	26247036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaacaccttgaacaccCggcgggtctcctcataaatg	9	14	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:26247036C>T	uc003nhf.2	-	1	170	c.170G>A	c.(169-171)CGG>CAG	p.R57Q		NM_003547	NP_003538	Q99525	H4G_HUMAN	histone cluster 1, H4g	57					nucleosome assembly	nucleosome|nucleus	DNA binding				0		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTTGAACACCCGGCGGGTCTC	0.582													T	26247036	C	T	26247036	3	4	20	1	0	0	0	0	1	0	0	0	7171	652	23	1	130	1	HIST1H4G	6	26247036	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	229082	26247036	144868031	618	18289											
BTN3A3	10384	broad.mit.edu	37	chr6	26444334	26444334	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaggcaggtggtgaacgtgTatgcagatggaaaggaagtg	17	3	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:26444334T>C	uc003nhz.2	+	4	415	c.235T>C	c.(235-237)TAT>CAT	p.Y79H	BTN3A3_uc003nia.2_Missense_Mutation_p.Y37H|BTN3A3_uc011dkn.1_Missense_Mutation_p.Y37H	NM_006994	NP_008925	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3 isoform a	79	Extracellular (Potential).|Ig-like V-type 1.					integral to membrane					0						GGTGAACGTGTATGCAGATGG	0.567													C	26444334	T	C	26444334	3	2	20	1	0	0	0	0	1	0	0	0	1564	1638	57	3	241	3	BTN3A3	6	26444334	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	197298	26444334	144670733	619	18290											
ZNF391	346157	broad.mit.edu	37	chr6	27368839	27368839	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatgaatgtgggaaagccttCggtgaccgttcaaccataat	10	8	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:27368839C>T	uc003njf.1	+	3	1208	c.690C>T	c.(688-690)TTC>TTT	p.F230F		NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	230	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(2)|skin(1)	3						GGAAAGCCTTCGGTGACCGTT	0.428													T	27368839	C	T	27368839	2	4	20	1	0	0	0	0	0	0	0	1	17876	883	31	1		1	ZNF391	6	27368839	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	924505	27368839	143746228	620	18291											
HIST1H2AM	8336	broad.mit.edu	37	chr6	27860700	27860700	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggcgcgggatgatgcgggtCtttttgttgtcgcgggctgc	18	8	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:27860700C>T	uc003nkb.1	-	1	264	c.228G>A	c.(226-228)AAG>AAA	p.K76K	HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	NM_003514	NP_003505	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	76					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			ovary(2)	2						TGATGCGGGTCTTTTTGTTGT	0.642													T	27860700	C	T	27860700	2	4	20	1	0	0	0	0	0	0	0	1	7139	912	32	4		4	HIST1H2AM	6	27860700	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	491861	27860700	143254367	621	18292											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28212908	28212909	+	Frame_Shift_Ins	INS	-	-	T													atgggtcactgtgaaagagtINSttttttccctacatggcttc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:28212907_28212908G>GT	uc003nks.1	-	4	1868_1869	c.1624_1625C>AC	c.(1624-1626)actfs	p.T542fs	ZKSCAN4_uc011dlb.1_Frame_Shift_Ins_p.T387fs	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 4 (ZKSCAN4), mRNA.	542					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTGTGAAAGAGTTTTTTTCCCT	0.446													T	28212909	-	T	28212908	7	5	20	1	0	1	1	0	0	0	0	0	17686	1725	60	0	17	0	ZKSCAN4	6	28212908	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	352208	28212908	142902159	622	18293											
SCAND3	114821	broad.mit.edu	37	chr6	28541269	28541269	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttggcttttcaattcactActctttctttcaaagaattc	5	9	5	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:28541269A>G	uc003nlo.2	-	4	3015	c.2397T>C	c.(2395-2397)AGT>AGC	p.S799S		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	799					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						tcaattcactactctttcttt	0													G	28541269	A	G	28541269	2	3	20	1	0	0	0	0	0	0	0	1	13876	388	14	3		3	SCAND3	6	28541269	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	328361	28541269	142573798	623	18294											
OR5V1	81696	broad.mit.edu	37	chr6	29323702	29323702	+	Frame_Shift_Del	DEL	T	T	-													acaccccacataagaaatgcTttttttctttgagaggaggt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:29323702delT	uc011dlo.1	-	1	353	c.271delA	c.(271-273)AGCfs	p.S91fs		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|kidney(1)	4						TAAGAAATGCTTTTTTTCTTT	0.418													-	29323702	T	-	29323702	7	5	20	1	0	1	0	1	0	0	0	0	11184	1609	56	0	697	0	OR5V1	6	29323702	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	782433	29323702	141791365	624	18295											
HLA-G	3135	broad.mit.edu	37	chr6	29857106	29857107	+	Splice_Site	INS	-	-	C													tctgactcttcccgtcagacINScccccccaagacacatatga					rs70987606		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:29857105_29857106A>AC	uc021ytv.1	+	4	629	c.620_splice	c.e4-1	p.D207_splice	HLA-G_uc021ytw.1_Splice_Site|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Splice_Site|HLA-G_uc010jro.3_3'UTR|HLA-J_uc021ytx.1_Splice_Site			P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.	207	Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TTCCCGTCAGACCCCCCCCAAG	0.579													C	29857107	-	C	29857106	8	5	20	1	0	1	1	0	0	0	1	0	7212	522	18	0		0	HLA-G	6	29857106	Splice_Site	INS	-	TCGA-BR-4362-01A-01D-1158-08	533404	29857106	141257961	625	18296											
HLA-A	3105	broad.mit.edu	37	chr6	29911150	29911150	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcaaggattacatcgcccTgaacgaggacctgcgctctt	11	13	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:29911150T>C	uc003nol.2	+	3	449	c.449T>C	c.(448-450)CTG>CCG	p.L150P	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_RNA|HLA-A_uc010jrq.2_Missense_Mutation_p.L29P|HLA-A_uc003nok.2_Missense_Mutation_p.L29P|HLA-A_uc003non.2_Missense_Mutation_p.L150P|HLA-A_uc003noo.2_Missense_Mutation_p.L150P|HLA-A_uc010jrr.2_Missense_Mutation_p.L150P|HLA-A_uc003nom.2_Missense_Mutation_p.L29P|HLA-A_uc010klp.2_Missense_Mutation_p.L122P|HLA-A_uc011dmc.1_Missense_Mutation_p.L29P|HLA-A_uc011dmd.1_Missense_Mutation_p.L29P	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	150	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						TACATCGCCCTGAACGAGGAC	0.647									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			C	29911150	T	C	29911150	3	2	20	1	0	0	0	0	1	0	0	0	7195	1580	55	3	459	3	HLA-A	6	29911150	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	54044	29911150	141203917	626	18297											
TRIM40	135644	broad.mit.edu	37	chr6	30114888	30114888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacatgccagcagaagcgGccagaatccttgacatctcc	9	14	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:30114888G>A	uc003npk.2	+	4	954	c.568G>A	c.(568-570)GCC>ACC	p.A190T	TRIM40_uc003npm.2_Missense_Mutation_p.A161T	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN	tripartite motif-containing 40	190						intracellular	zinc ion binding			ovary(1)	1						AGCAGAAGCGGCCAGAATCCT	0.592													A	30114888	G	A	30114888	3	1	20	1	0	0	0	0	1	0	0	0	16512	1203	42	2	491	2	TRIM40	6	30114888	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	203738	30114888	141000179	627	18298											
KIAA1949	170954	broad.mit.edu	37	chr6	30653521	30653521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgctgccgctcctgcCggatgaatcggttctggtgc	14	13	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:30653521C>T	uc003nra.2	-	2	506	c.275G>A	c.(274-276)CGG>CAG	p.R92Q	KIAA1949_uc003nrb.3_Missense_Mutation_p.R92Q	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN	phostensin	92						cytoplasm|cytoskeleton	actin binding				0						ccgctcctgcCGGATGAATCG	0.532													T	30653521	C	T	30653521	3	4	20	1	0	0	0	0	1	0	0	0	8263	652	23	1	1578	1	KIAA1949	6	30653521	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	538633	30653521	140461546	628	18299											
MDC1	9656	broad.mit.edu	37	chr6	30680469	30680469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggctctctttcagatgtGccaaagtcagcgctgctgag	12	11	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:30680469G>A	uc003nrg.3	-	5	1690	c.1250C>T	c.(1249-1251)GCA>GTA	p.A417V	MDC1_uc003nrf.3_Missense_Mutation_p.A71V|MDC1_uc011dmp.1_Missense_Mutation_p.A289V|MDC1_uc003nrh.1_Missense_Mutation_p.A289V|MDC1_uc003nri.2_Missense_Mutation_p.A417V	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	417	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						TTTCAGATGTGCCAAAGTCAG	0.532								Other_conserved_DNA_damage_response_genes					A	30680469	G	A	30680469	3	1	20	1	0	0	0	0	1	0	0	0	9403	1319	46	2	5063	2	MDC1	6	30680469	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	26948	30680469	140434598	629	18300											
DDR1	780	broad.mit.edu	37	chr6	30863251	30863252	+	Frame_Shift_Ins	INS	-	-	C													gtccccctcgaggcccgggcINSccccccacacccgcctgggc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:30863250_30863251G>GC	uc003nrv.3	+	10	1625_1626	c.1583_1584G>GC	c.(1582-1584)ggcfs	p.G528fs	DDR1_uc010jse.3_Intron|DDR1_uc003nrq.3_Intron|DDR1_uc003nrr.3_Frame_Shift_Ins_p.G528fs|DDR1_uc003nrs.3_Frame_Shift_Ins_p.G528fs|DDR1_uc003nrt.3_Intron|DDR1_uc011dms.2_Intron|DDR1_uc003nru.3_Intron|DDR1_uc003nry.2_Intron|DDR1_uc003nrx.2_Intron|DDR1_uc003nrw.1_Frame_Shift_Ins_p.A300fs	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	528	Gly/Pro-rich.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CGAGGCCCGGGCCCCCCCACAC	0.683													C	30863252	-	C	30863251	7	5	20	1	0	1	1	0	0	0	0	0	4336	726	26	0	1626	0	DDR1	6	30863251	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	182782	30863251	140251816	630	18301											
HLA-C	3107	broad.mit.edu	37	chr6	31239447	31239447	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgtgcctggcgcttgTacttctgtgtctcccggtcc	11	15	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:31239447T>C	uc003nsy.2	-	2	279	c.272A>G	c.(271-273)TAC>TGC	p.Y91C	HLA-C_uc011dnj.1_Missense_Mutation_p.Y63C|HLA-C_uc003nsx.2_5'UTR|HLA-C_uc003nsz.2_Missense_Mutation_p.Y91C|HLA-C_uc010jsl.2_Missense_Mutation_p.Y91C|HLA-C_uc003nta.2_Missense_Mutation_p.Y91C|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_5'UTR|HLA-B_uc003ntf.2_Intron	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	91	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex					0						CTGGCGCTTGTACTTCTGTGT	0.701													C	31239447	T	C	31239447	3	2	20	1	0	0	0	0	1	0	0	0	7197	1638	57	3	856	3	HLA-C	6	31239447	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	376196	31239447	139875620	631	18302											
AIF1	199	broad.mit.edu	37	chr6	31584673	31584673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagctatctctgagttgcCctgatttgaagggaaaaggg	13	6	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:31584673C>T	uc003nuy.2	+	6	514	c.440C>T	c.(439-441)CCC>CTC	p.P147L	AIF1_uc010jsy.2_3'UTR|AIF1_uc003nva.2_Missense_Mutation_p.P93L	NM_001623	NP_001614	P55008	AIF1_HUMAN	allograft inflammatory factor 1 isoform 3	147				KEKPTGPPAKKAISELP -> RKTNTPPSQESPI (in Ref. 2; AAA92457).	actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding			ovary(1)	1						TCTGAGTTGCCCTGATTTGAA	0.448													T	31584673	C	T	31584673	3	4	20	1	0	0	0	0	1	0	0	0	424	623	22	4	660	4	AIF1	6	31584673	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	345226	31584673	139530394	632	18303											
BAT2	7916	broad.mit.edu	37	chr6	31602641	31602641	+	Frame_Shift_Del	DEL	C	C	-													tcaagggggcagcagagggaCcccccaagaggcctggaggc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:31602641delC	uc003nvb.3	+	21	5296	c.5047delC	c.(5047-5049)CCCfs	p.P1683fs	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Frame_Shift_Del_p.P1683fs	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1683	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						AGCAGAGGGACCCCCCAAGAG	0.627													-	31602641	C	-	31602641	7	5	20	1	0	1	0	1	0	0	0	0	1319	507	18	0	5125	0	BAT2	6	31602641	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	17968	31602641	139512426	633	18304											
BAT3	7917	broad.mit.edu	37	chr6	31608183	31608183	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggggactgcagctgcccaAggttctgtctcagctgaagc	15	11	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:31608183A>C	uc003nvg.3	-	22	3341	c.3027T>G	c.(3025-3027)CCT>CCG	p.P1009P	BAT3_uc003nvf.3_Silent_p.P1003P|BAT3_uc003nvh.3_Silent_p.P1003P|BAT3_uc003nvi.3_Silent_p.P1003P|BAT3_uc011dnw.1_Silent_p.P1003P|BAT3_uc011dnx.1_Intron	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	1009					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0						CAGCTGCCCAAGGTTCTGTCT	0.557													C	31608183	A	C	31608183	2	2	20	1	0	0	0	0	0	0	0	1	1322	59	3	5		5	BAT3	6	31608183	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	5542	31608183	139506884	634	18305											
BAT5	7920	broad.mit.edu	37	chr6	31668789	31668789	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagaaaacggcaccactttGgacaaactcaagtaacctgg	9	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:31668789G>A	uc003nvy.1	-	4	303	c.273C>T	c.(271-273)TCC>TCT	p.S91S	BAT5_uc003nvx.1_5'UTR|BAT5_uc011dny.1_Silent_p.S58S|BAT5_uc003nvz.1_5'UTR|BAT5_uc011dnz.1_5'UTR|BAT5_uc010jtc.1_RNA|BAT5_uc011doa.1_5'UTR	NM_021160	NP_066983	O95870	ABHGA_HUMAN	HLA-B associated transcript 5	91						integral to membrane	hydrolase activity|protein binding				0						GCACCACTTTGGACAAACTCA	0.552													A	31668789	G	A	31668789	2	1	20	1	0	0	0	0	0	0	0	1	1324	1335	47	4		4	BAT5	6	31668789	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	60606	31668789	139446278	635	18306											
RDBP	7936	broad.mit.edu	37	chr6	31922385	31922385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgctcccgatccctgtccCgttcccggtctcgatctcga	8	20	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:31922385C>T	uc003nyk.2	-	7	893	c.689G>A	c.(688-690)CGG>CAG	p.R230Q	RDBP_uc011dot.1_Missense_Mutation_p.R200Q|RDBP_uc003nyl.1_Missense_Mutation_p.R170Q|RDBP_uc003nym.1_Missense_Mutation_p.R225Q	NM_002904	NP_002895	P18615	NELFE_HUMAN	RD RNA-binding protein	230	30 X 2 AA approximate tandem repeats of R-[DSNE].|24.				positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						atccctgtcccgttcccggtc	0.149													T	31922385	C	T	31922385	3	4	20	1	0	0	0	0	1	0	0	0	13188	652	23	1	473	1	RDBP	6	31922385	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	253596	31922385	139192682	636	18307											
HLA-DRA	3122	broad.mit.edu	37	chr6	32410986	32410986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagaggtaactgtgctcaCaaacagccctgtggaactga	10	11	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:32410986C>T	uc003obh.2	+	3	434	c.353C>T	c.(352-354)ACG>ATG	p.T118M	HLA-DRA_uc003obi.2_Intron	NM_019111	NP_061984	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR	118	Ig-like C1-type.|Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			ovary(1)|skin(1)	2						ACTGTGCTCACAAACAGCCCT	0.512									T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of				T	32410986	C	T	32410986	3	4	20	1	0	0	0	0	1	0	0	0	7207	478	17	4	363	4	HLA-DRA	6	32410986	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	488601	32410986	138704081	637	18308											
TAP2	6891	broad.mit.edu	37	chr6	32782224	32782224	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtctccattcctgataggGccagtggacatgaccccagc	10	14	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:32782224G>A	uc011dqf.1	-	14	2459	c.2337C>T	c.(2335-2337)GGC>GGT	p.G779G	HLA-DOB_uc003oca.2_Silent_p.G172G|HLA-DOB_uc011dqg.1_Silent_p.G172G	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	Error:Variant_position_missing_in_Q03519_after_alignment					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						TCCTGATAGGGCCAGTGGACA	0.522													A	32782224	G	A	32782224	2	1	20	1	0	0	0	0	0	0	0	1	15548	1190	42	2		2	TAP2	6	32782224	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	371238	32782224	138332843	638	18309											
BRD2	6046	broad.mit.edu	37	chr6	32946137	32946137	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttaggcccttctggcTttggaccttctggaggaagt	12	10	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:32946137T>C	uc003ocn.3	+	10	3514	c.1813T>C	c.(1813-1815)TTT>CTT	p.F605L	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Missense_Mutation_p.F605L|BRD2_uc003ocp.3_Missense_Mutation_p.F485L|BRD2_uc010juh.2_Missense_Mutation_p.F605L	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	605					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CCCTTCTGGCTTTGGACCTTC	0.542													C	32946137	T	C	32946137	3	2	20	1	0	0	0	0	1	0	0	0	1502	1609	56	3	1847	3	BRD2	6	32946137	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	163913	32946137	138168930	639	18310											
BRD2	6046	broad.mit.edu	37	chr6	32948188	32948188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcgggaattagaaaagcGgttacaagatgtcagcggac	13	6	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:32948188G>A	uc003ocn.3	+	12	3917	c.2216G>A	c.(2215-2217)CGG>CAG	p.R739Q	BRD2_uc003ocq.3_Missense_Mutation_p.R739Q|BRD2_uc003ocp.3_Missense_Mutation_p.R619Q|BRD2_uc010juh.2_Missense_Mutation_p.R774Q	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	739	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TTAGAAAAGCGGTTACAAGAT	0.413													A	32948188	G	A	32948188	3	1	20	1	0	0	0	0	1	0	0	0	1502	1116	39	1	2258	1	BRD2	6	32948188	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2051	32948188	138166879	640	18311											
COL11A2	1302	broad.mit.edu	37	chr6	33133489	33133489	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgccgggggctcccccggtCggtatggcctcatcttcctg	13	16	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:33133489C>T	uc003ocx.1	-	63	4815	c.4587G>A	c.(4585-4587)CCG>CCA	p.P1529P	COL11A2_uc010jul.1_Silent_p.P99P|COL11A2_uc003ocy.1_Silent_p.P1443P|COL11A2_uc003ocz.1_Silent_p.P1422P	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1529					cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						CTCCCCCGGTCGGTATGGCCT	0.647													T	33133489	C	T	33133489	2	4	20	1	0	0	0	0	0	0	0	1	3668	871	31	1		1	COL11A2	6	33133489	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	185301	33133489	137981578	641	18312											
RXRB	6257	broad.mit.edu	37	chr6	33166144	33166145	+	Frame_Shift_Ins	INS	-	-	G													agccccagggccacctggagINSggggtggacagtgcaggccc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:33166143_33166144A>AG	uc003odb.3	-	2	760_761	c.581_582T>CT	c.(580-582)cctfs	p.P194fs	RXRB_uc003odc.3_Frame_Shift_Ins_p.P194fs|RXRB_uc011dqr.2_Intron|RXRB_uc011dqs.1_Intron|RXRB_uc003ode.1_Frame_Shift_Ins_p.P58fs|RXRB_uc011dqt.1_Frame_Shift_Ins_p.P194fs|RXRB_uc011dqu.1_Frame_Shift_Ins_p.P98fs|JA611279_uc021ywi.1_5'Flank|SLC39A7_uc003odf.3_5'Flank|SLC39A7_uc003odg.3_5'Flank|SLC39A7_uc011dqv.2_5'Flank	NM_021976	NP_068811	P28702	RXRB_HUMAN	Homo sapiens retinoid X receptor, beta (RXRB), mRNA.	194	Modulating (By similarity).|Pro-rich.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.P194S(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGCCACCTGGAGGGGGTGGACA	0.614													G	33166145	-	G	33166144	7	5	20	1	0	1	1	0	0	0	0	0	13764	1000	35	0	1052	0	RXRB	6	33166144	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	32655	33166144	137948923	642	18313											
VPS52	6293	broad.mit.edu	37	chr6	33236883	33236883	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaagtcgaatgttcatggcTcctgactgttcctgcagtgt	11	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:33236883T>C	uc003odm.1	-	6	666	c.456A>G	c.(454-456)GGA>GGG	p.G152G	VPS52_uc003odn.1_Silent_p.G27G|VPS52_uc003odo.1_Silent_p.G77G|VPS52_uc011dqy.1_Silent_p.G27G|VPS52_uc011dqz.1_Silent_p.G27G|RPS18_uc003odp.1_5'Flank|RPS18_uc010jum.1_5'Flank	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52	152					protein transport	endosome membrane|Golgi apparatus				ovary(4)|skin(1)	5						TGTTCATGGCTCCTGACTGTT	0.537													C	33236883	T	C	33236883	2	2	20	1	0	0	0	0	0	0	0	1	17211	1538	54	3		3	VPS52	6	33236883	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	70739	33236883	137878184	643	18314											
RGL2	5863	broad.mit.edu	37	chr6	33259893	33259893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctcagaacagtgcccGtgcaatcttcctccctgtgg	8	16	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:33259893G>A	uc003odv.2	-	18	2453	c.2320C>T	c.(2320-2322)CGG>TGG	p.R774W	WDR46_uc003ods.2_5'Flank|WDR46_uc011dra.1_5'Flank|RGL2_uc003odu.2_Missense_Mutation_p.R334W|RGL2_uc010jur.2_Missense_Mutation_p.R334W|RGL2_uc003odw.2_Missense_Mutation_p.R692W	NM_004761	NP_004752	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation	774					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			skin(3)|lung(1)|breast(1)|pancreas(1)	6						AACAGTGCCCGTGCAATCTTC	0.562													A	33259893	G	A	33259893	3	1	20	1	0	0	0	0	1	0	0	0	13277	1144	40	1	17	1	RGL2	6	33259893	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	23010	33259893	137855174	644	18315											
DAXX	1616	broad.mit.edu	37	chr6	33287897	33287897	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggcctcctcctcttcttcTtcctcctcctcctcctcttc	3	21	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:33287897T>C	uc003oec.2	-	5	1560	c.1356A>G	c.(1354-1356)GAA>GAG	p.E452E	ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Silent_p.E377E|DAXX_uc011dre.1_Silent_p.E464E|DAXX_uc003oed.2_Silent_p.E452E	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	452	Asp/Glu-rich (acidic).|Potential.|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						cctcttcttcttcctcctcct	0.239			Mis|F|N		Pancreatic neuroendocrine tumors								C	33287897	T	C	33287897	2	2	20	1	0	0	0	0	0	0	0	1	4243	1606	56	3		3	DAXX	6	33287897	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	28004	33287897	137827170	645	18316											
DAXX	1616	broad.mit.edu	37	chr6	33288217	33288217	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaagaggtgccttggagCcgagctcttctcttttttct	12	9	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:33288217C>T	uc003oec.2	-	4	1395	c.1191G>A	c.(1189-1191)CGG>CGA	p.R397R	ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Silent_p.R322R|DAXX_uc011dre.1_Silent_p.R409R|DAXX_uc003oed.2_Silent_p.R397R|DAXX_uc010juw.2_Silent_p.R322R	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	397	Potential.|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						TGCCTTGGAGCCGAGCTCTTC	0.532			Mis|F|N		Pancreatic neuroendocrine tumors								T	33288217	C	T	33288217	2	4	20	1	0	0	0	0	0	0	0	1	4243	726	26	2		2	DAXX	6	33288217	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	320	33288217	137826850	646	18317											
SYNGAP1	8831	broad.mit.edu	37	chr6	33400582	33400582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgaagtgctgaccatgacCggtacaggggctggagcatg	15	10	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:33400582C>T	uc011dri.1	+	5	703	c.508C>T	c.(508-510)CGG>TGG	p.R170W	SYNGAP1_uc003oeo.1_Missense_Mutation_p.R155W|SYNGAP1_uc010juy.2_Missense_Mutation_p.R155W	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	170	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						TGACCATGACCGGTACAGGGG	0.527													T	33400582	C	T	33400582	3	4	20	1	0	0	0	0	1	0	0	0	15444	666	23	1	526	1	SYNGAP1	6	33400582	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	112365	33400582	137714485	647	18318											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411637	33411637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaagttatggccccgcccGtccacggcaacagagcctca	10	17	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:33411637G>A	uc011dri.1	+	15	3503	c.3308G>A	c.(3307-3309)CGT>CAT	p.R1103H	SYNGAP1_uc010juy.2_Missense_Mutation_p.R1074H|SYNGAP1_uc010juz.2_Missense_Mutation_p.R815H	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1103					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						GGCCCCGCCCGTCCACGGCAA	0.662													A	33411637	G	A	33411637	3	1	20	1	0	0	0	0	1	0	0	0	15444	1145	40	1	3366	1	SYNGAP1	6	33411637	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	11055	33411637	137703430	648	18319											
ITPR3	3710	broad.mit.edu	37	chr6	33638551	33638551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatgtagtcagcgaggccGtgccctttgccaacgaggag	13	11	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:33638551G>A	uc011drk.1	+	20	2764	c.2545G>A	c.(2545-2547)GTG>ATG	p.V849M		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	849	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CAGCGAGGCCGTGCCCTTTGC	0.567													A	33638551	G	A	33638551	3	1	20	1	0	0	0	0	1	0	0	0	7922	1145	40	1	2623	1	ITPR3	6	33638551	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	226914	33638551	137476516	649	18320											
TEAD3	7005	broad.mit.edu	37	chr6	35443481	35443481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatggtgctgttgaggtcGgcctgggcatgggggtgggg	23	5	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:35443481G>A	uc003oku.3	-	11	1139	c.903C>T	c.(901-903)GCC>GCT	p.A301A	TEAD3_uc003okt.2_Silent_p.A190A|TEAD3_uc010jvx.2_Silent_p.A241A	NM_003214	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	301	Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TGTTGAGGTCGGCCTGGGCAT	0.602													A	35443481	G	A	35443481	2	1	20	1	0	0	0	0	0	0	0	1	15737	1103	39	1		1	TEAD3	6	35443481	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1804930	35443481	135671586	650	18321											
PNPLA1	285848	broad.mit.edu	37	chr6	36274154	36274154	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagcaagccttatgtaacGtaagtttccccttcgtggag	10	10	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:36274154G>A	uc010jwf.2	+	7	1469	c.1469_splice	c.e7+1	p.T490_splice	PNPLA1_uc003olw.1_Splice_Site_p.T395_splice|PNPLA1_uc010jwe.1_Splice_Site_p.T404_splice	NM_001145717	NP_001139189	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1						lipid catabolic process		hydrolase activity			large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4						CTTATGTAACGTAAGTTTCCC	0.493													A	36274154	G	A	36274154	5	1	20	1	0	0	0	0	0	0	1	0	12164	1159	40	1	1523	1	PNPLA1	6	36274154	Splice_Site	SNP	G	TCGA-BR-4362-01A-01D-1158-08	830673	36274154	134840913	651	18322											
MDGA1	266727	broad.mit.edu	37	chr6	37626035	37626035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcacactgcacgtccacgCggatggacttgatggccggc	12	14	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:37626035C>T	uc003onu.1	-	3	1547	c.368G>A	c.(367-369)CGC>CAC	p.R123H		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	123	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						CACGTCCACGCGGATGGACTT	0.682													T	37626035	C	T	37626035	3	4	20	1	0	0	0	0	1	0	0	0	9406	768	27	1	2559	1	MDGA1	6	37626035	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1351881	37626035	133489032	652	18323											
KIF6	221458	broad.mit.edu	37	chr6	39580993	39580993	+	Frame_Shift_Del	DEL	A	A	-													tcattcggttggtgtctcctAaaaaaagcaaattcagagct							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:39580992_39580992TA>T	uc003oot.2	-	5	707	c.612_612TA>A	c.(610-612)ttafs	p.L204fs	KIF6_uc010jxa.1_5'UTR|KIF6_uc011dua.1_Frame_Shift_Del_p.L204fs|KIF6_uc010jxb.1_Frame_Shift_Del_p.L204fs	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	204	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGGTGTCTCCTAAAAAAAGCA	0.398													-	39580993	A	-	39580993	7	5	20	1	0	1	0	1	0	0	0	0	8308	372	13	0	1905	0	KIF6	6	39580993	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	1954958	39580993	131534074	653	18324											
FOXP4	116113	broad.mit.edu	37	chr6	41555186	41555186	+	Frame_Shift_Del	DEL	C	C	-													ccgctccccccaaggtctcaCcccccctctcccaccatacc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:41555185_41555185AC>A	uc003oql.3	+	6	1265	c.807_807AC>A	c.(805-807)tcafs	p.S269fs	FOXP4_uc003oqm.3_Frame_Shift_Del_p.S267fs|FOXP4_uc003oqn.3_Frame_Shift_Del_p.S268fs	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA.	269					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCAAGGTCTCACCCCCCCTCT	0.677											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	-	41555186	C	-	41555186	7	5	20	1	0	1	0	1	0	0	0	0	6029	507	18	0	830	0	FOXP4	6	41555186	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	1974193	41555186	129559881	654	18325											
FRS3	10817	broad.mit.edu	37	chr6	41739124	41739124	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caacacaaacttcacctggcCtggctgcaagaacacctgtg	8	14	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:41739124C>A	uc003orc.1	-	7	956	c.712G>T	c.(712-714)GGC>TGC	p.G238C		NM_006653	NP_006644	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	238					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			ovary(2)	2	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTCACCTGGCCTGGCTGCAAG	0.672													A	41739124	C	A	41739124	3	1	20	1	0	0	0	0	1	0	0	0	6062	681	24	5	770	5	FRS3	6	41739124	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	183938	41739124	129375943	655	18326											
CCND3	896	broad.mit.edu	37	chr6	41903835	41903835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatctgctcctgacaggccCgcaggcagtcctgggaacat	12	14	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:41903835C>T	uc003orn.2	-	5	887	c.722G>A	c.(721-723)CGG>CAG	p.R241Q	CCND3_uc003orp.2_Missense_Mutation_p.R160Q|CCND3_uc011duk.1_Missense_Mutation_p.R45Q|CCND3_uc003orm.2_Missense_Mutation_p.R191Q|CCND3_uc003oro.2_Missense_Mutation_p.R169Q	NM_001760	NP_001751	P30281	CCND3_HUMAN	cyclin D3 isoform 2	241					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding				0	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGACAGGCCCGCAGGCAGTC	0.642			T	IGH@	MM						OREG0017437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	41903835	C	T	41903835	3	4	20	1	0	0	0	0	1	0	0	0	2918	652	23	1	160	1	CCND3	6	41903835	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	164711	41903835	129211232	656	18327											
GUCA1A	2978	broad.mit.edu	37	chr6	42146991	42146991	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctaccccaggggaactctcCctggaagagtttatagaggg	12	10	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:42146991C>A	uc003orx.2	+	6	1101	c.456C>A	c.(454-456)TCC>TCA	p.S152S	GUCA1A_uc011duo.1_RNA|GUCA1A_uc010jxt.2_Silent_p.S152S	NM_000409	NP_000400	P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	152	EF-hand 4.|3 (Potential).				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity				0	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGGAACTCTCCCTGGAAGAGT	0.582													A	42146991	C	A	42146991	2	1	20	1	0	0	0	0	0	0	0	1	6888	610	22	5		5	GUCA1A	6	42146991	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	243156	42146991	128968076	657	18328											
GUCA1B	2979	broad.mit.edu	37	chr6	42152629	42152629	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatctgcagcatcttcatcAcccacttgtcccgacgggca	7	17	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:42152629A>G	uc003orz.2	-	4	663	c.527T>C	c.(526-528)GTG>GCG	p.V176A		NM_002098	NP_002089	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	176	EF-hand 4.				body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			skin(2)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			CATCTTCATCACCCACTTGTC	0.577													G	42152629	A	G	42152629	3	3	20	1	0	0	0	0	1	0	0	0	6889	159	6	3	79	3	GUCA1B	6	42152629	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	5638	42152629	128962438	658	18329											
KIAA0240	23506	broad.mit.edu	37	chr6	42797828	42797828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagtcagtgtgtctcatcGtcttccagtttcttcttcca	6	13	5	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:42797828G>A	uc003osn.1	+	6	1908	c.1757G>A	c.(1756-1758)CGT>CAT	p.R586H	KIAA0240_uc003osm.1_Missense_Mutation_p.R586H|KIAA0240_uc011duw.1_Missense_Mutation_p.R586H|KIAA0240_uc003oso.1_Missense_Mutation_p.R586H|KIAA0240_uc003osp.1_Missense_Mutation_p.R586H	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	586										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			GTGTCTCATCGTCTTCCAGTT	0.488													A	42797828	G	A	42797828	3	1	20	1	0	0	0	0	1	0	0	0	8164	1145	40	1	1771	1	KIAA0240	6	42797828	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	645199	42797828	128317239	659	18330											
PEX6	5190	broad.mit.edu	37	chr6	42933450	42933450	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccagaatctccacttcGcccccggcttggggccaaag	9	17	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:42933450G>A	uc003otf.2	-	13	2533	c.2440C>T	c.(2440-2442)CGA>TGA	p.R814*	PEX6_uc010jya.2_RNA	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	814					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TCTCCACTTCGCCCCCGGCTT	0.562													A	42933450	G	A	42933450	4	1	20	1	0	0	0	0	0	1	0	0	11750	1095	38	1	522	1	PEX6	6	42933450	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	135622	42933450	128181617	660	18331											
PEX6	5190	broad.mit.edu	37	chr6	42946217	42946217	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactctctggcctgggccacCcacacccattcgccctggaa	9	18	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:42946217C>A	uc003otf.2	-	1	765	c.672G>T	c.(670-672)TGG>TGT	p.W224C	PEX6_uc010jya.2_RNA	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	224					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CCTGGGCCACCCACACCCATT	0.627													A	42946217	C	A	42946217	3	1	20	1	0	0	0	0	1	0	0	0	11750	624	22	5	2338	5	PEX6	6	42946217	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	12767	42946217	128168850	661	18332											
PTK7	5754	broad.mit.edu	37	chr6	43113108	43113108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaccacgccaacgtggtgCggctcctggggctgtgccgg	16	13	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:43113108C>T	uc003oub.1	+	16	2776	c.2578C>T	c.(2578-2580)CGG>TGG	p.R860W	PTK7_uc003ouc.1_Missense_Mutation_p.R804W|PTK7_uc003oud.1_Missense_Mutation_p.R820W|PTK7_uc003oue.1_Missense_Mutation_p.R730W|PTK7_uc003ouf.1_Intron|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Missense_Mutation_p.R868W|PTK7_uc010jyj.1_Missense_Mutation_p.R186W	NM_002821	NP_002812	Q13308	PTK7_HUMAN	PTK7 protein tyrosine kinase 7 isoform a	860	Cytoplasmic (Potential).|Protein kinase; inactive.|Interaction with CTNNB1.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(2)|large_intestine(1)	3			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CAACGTGGTGCGGCTCCTGGG	0.607													T	43113108	C	T	43113108	3	4	20	1	0	0	0	0	1	0	0	0	12765	759	27	1	2640	1	PTK7	6	43113108	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	166891	43113108	128001959	662	18333											
ZNF318	24149	broad.mit.edu	37	chr6	43323194	43323194	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcggtcagctgaggagcgTaatgatggcttcttgccatg	15	9	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:43323194T>C	uc003oux.2	-	4	1956	c.1878A>G	c.(1876-1878)TTA>TTG	p.L626L	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	626					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTGAGGAGCGTAATGATGGCT	0.517													C	43323194	T	C	43323194	2	2	20	1	0	0	0	0	0	0	0	1	17833	1635	57	3		3	ZNF318	6	43323194	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	210086	43323194	127791873	663	18334											
XPO5	57510	broad.mit.edu	37	chr6	43494448	43494448	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatctgctgggggagcactActgtggtcagcacccttctt	11	13	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:43494448A>G	uc003ovp.2	-	27	3169	c.2958T>C	c.(2956-2958)AGT>AGC	p.S986S	POLR1C_uc003ovo.1_Intron	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	986					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GGGGAGCACTACTGTGGTCAG	0.498													G	43494448	A	G	43494448	2	3	20	1	0	0	0	0	0	0	0	1	17444	388	14	3		3	XPO5	6	43494448	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	171254	43494448	127620619	664	18335											
CDC5L	988	broad.mit.edu	37	chr6	44360532	44360532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaatcattggaagaacagCggcccagtgcttagaacact	9	11	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:44360532C>T	uc003oxl.2	+	3	537	c.278C>T	c.(277-279)GCG>GTG	p.A93V		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	93	H-T-H motif (By similarity).|HTH myb-type 2.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAAGAACAGCGGCCCAGTGC	0.413													T	44360532	C	T	44360532	3	4	20	1	0	0	0	0	1	0	0	0	3082	768	27	1	288	1	CDC5L	6	44360532	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	866084	44360532	126754535	665	18336											
CYP39A1	51302	broad.mit.edu	37	chr6	46620180	46620180	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctataaattctagaggggctTtcccaaactcaaatccaact	5	11	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:46620180T>C	uc003oyf.1	-	1	344	c.140A>G	c.(139-141)AAA>AGA	p.K47R	CYP39A1_uc011dwa.1_Missense_Mutation_p.K47R|CYP39A1_uc010jzd.1_5'UTR|SLC25A27_uc011dwb.1_5'Flank|SLC25A27_uc003oyg.2_5'Flank|SLC25A27_uc003oyh.2_5'Flank|SLC25A27_uc011dwc.1_5'Flank	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A,	47					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(1)	1						TAGAGGGGCTTTCCCAAACTC	0.458													C	46620180	T	C	46620180	3	2	20	1	0	0	0	0	1	0	0	0	4177	1841	64	3	1317	3	CYP39A1	6	46620180	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2259648	46620180	124494887	666	18337											
PLA2G7	7941	broad.mit.edu	37	chr6	46679343	46679343	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgaaatagtaagttgcagAtgcagatctatctctataat	7	6	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:46679343A>G	uc010jzf.2	-	7	822	c.553T>C	c.(553-555)TCT>CCT	p.S185P	PLA2G7_uc010jzg.1_Missense_Mutation_p.S185P|PLA2G7_uc011dwd.1_Missense_Mutation_p.S140P|PLA2G7_uc011dwe.1_Missense_Mutation_p.S58P	NM_005084	NP_005075	Q13093	PAFA_HUMAN	phospholipase A2, group VII	185					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding				0			Lung(136;0.192)			TAAGTTGCAGATGCAGATCTA	0.413													G	46679343	A	G	46679343	3	3	20	1	0	0	0	0	1	0	0	0	12009	333	12	3	796	3	PLA2G7	6	46679343	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	59163	46679343	124435724	667	18338											
DEFB110	245913	broad.mit.edu	37	chr6	49986805	49986805	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcactctctcctcaagTccaagctaccatactcagga	5	15	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:49986805T>C	uc003pac.2	-	2	135	c.89A>G	c.(88-90)GAC>GGC	p.D30G	DEFB110_uc011dwr.1_Intron	NM_001037497	NP_001032586	Q30KQ9	DB110_HUMAN	beta-defensin 110 isoform a	30					defense response to bacterium	extracellular region				ovary(1)	1	Lung NSC(77;0.042)					TCTCCTCAAGTCCAAGCTACC	0.373													C	49986805	T	C	49986805	3	2	20	1	0	0	0	0	1	0	0	0	4400	1667	58	3	254	3	DEFB110	6	49986805	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3307462	49986805	121128262	668	18339											
GCLC	2729	broad.mit.edu	37	chr6	53370226	53370226	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaaatccaatttgtaggaAaggatcactctggtgagcag	11	6	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:53370226A>G	uc003pbw.1	-	12	1747	c.1359T>C	c.(1357-1359)CTT>CTC	p.L453L	GCLC_uc003pbv.1_Silent_p.L177L	NM_001498	NP_001489	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	453					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			ovary(1)|central_nervous_system(1)	2	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	ATTTGTAGGAAAGGATCACTC	0.368													G	53370226	A	G	53370226	2	3	20	1	0	0	0	0	0	0	0	1	6295	1	1	3		3	GCLC	6	53370226	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	3383421	53370226	117744841	669	18340											
DST	667	broad.mit.edu	37	chr6	56434717	56434717	+	Frame_Shift_Del	DEL	T	T	-													gaaggctgtacaatgggaacTttttttgttgtttcttttat							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:56434717delT	uc003pdf.2	-	48	7486	c.7458delA	c.(7456-7458)AAAfs	p.K2486fs	DST_uc003pcz.3_Frame_Shift_Del_p.K2308fs|DST_uc011dxj.1_Frame_Shift_Del_p.K2337fs|DST_uc011dxk.1_Frame_Shift_Del_p.K2348fs|DST_uc003pcy.3_Frame_Shift_Del_p.K1982fs	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	4394					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)			CAATGGGAACTTTTTTTGTTG	0.328													-	56434717	T	-	56434717	7	5	20	1	0	1	0	1	0	0	0	0	4783	1606	56	0	9769	0	DST	6	56434717	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	3064491	56434717	114680350	670	18341											
BAI3	577	broad.mit.edu	37	chr6	70070871	70070871	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaaccctgaagggctaAgctattcaacattgcctgga	9	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:70070871A>T	uc003pev.3	+	29	4154	c.3706A>T	c.(3706-3708)AGC>TGC	p.S1236C	BAI3_uc010kak.2_Missense_Mutation_p.S1236C|BAI3_uc011dxx.1_Missense_Mutation_p.S442C	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1236	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TGAAGGGCTAAGCTATTCAAC	0.433													T	70070871	A	T	70070871	3	4	20	1	0	0	0	0	1	0	0	0	1300	72	3	5	3812	5	BAI3	6	70070871	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	13636154	70070871	101044196	671	18342											
COL9A1	1297	broad.mit.edu	37	chr6	71004132	71004132	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attgtgtttggccattaatcTttatgccaacttgctccttc	6	10	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:71004132T>G	uc003pfg.3	-	5	593	c.434A>C	c.(433-435)AAG>ACG	p.K145T		NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	145	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						GCCATTAATCTTTATGCCAAC	0.428													G	71004132	T	G	71004132	3	3	20	1	0	0	0	0	1	0	0	0	3707	1609	56	5	2543	5	COL9A1	6	71004132	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	933261	71004132	100110935	672	18343											
RIMS1	22999	broad.mit.edu	37	chr6	73100438	73100438	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttacagctctgagggcaAgtaagtgctgtcagcacgtc	12	10	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:73100438A>C	uc003pga.2	+	30	4582	c.4505A>C	c.(4504-4506)AAT>ACT	p.N1502T	RIMS1_uc011dyb.1_Missense_Mutation_p.N899T|RIMS1_uc003pgc.2_Missense_Mutation_p.N951T|RIMS1_uc010kaq.2_Missense_Mutation_p.N822T|RIMS1_uc011dyc.1_Missense_Mutation_p.N627T|RIMS1_uc010kar.2_Missense_Mutation_p.N570T|RIMS1_uc011dyd.1_Missense_Mutation_p.N636T|RIMS1_uc003pgf.2_Missense_Mutation_p.N502T|RIMS1_uc003pgg.2_Missense_Mutation_p.N398T|RIMS1_uc003pgi.2_Missense_Mutation_p.N318T|RIMS1_uc003pgh.2_Missense_Mutation_p.N369T|RIMS1_uc003pgd.2_Missense_Mutation_p.N568T|RIMS1_uc003pge.2_Missense_Mutation_p.N542T|RIMS1_uc011dye.1_Missense_Mutation_p.N308T|RIMS1_uc011dyf.1_Missense_Mutation_p.N126T|RIMS1_uc011dyg.1_Missense_Mutation_p.N29T	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1502					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCTGAGGGCAAGTAAGTGCTG	0.483													C	73100438	A	C	73100438	3	2	20	1	0	0	0	0	1	0	0	0	13367	86	3	5	4786	5	RIMS1	6	73100438	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2096306	73100438	98014629	673	18344											
DPPA5	340168	broad.mit.edu	37	chr6	74063580	74063580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctgggcctctcacctcgCtcctggcgctggcggtgcca	12	17	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:74063580C>T	uc003pgs.1	-	2	293	c.288G>A	c.(286-288)GAG>GAA	p.E96E		NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	96					multicellular organismal development	cytoplasm	RNA binding				0						TCTCACCTCGCTCCTGGCGCT	0.637													T	74063580	C	T	74063580	2	4	20	1	0	0	0	0	0	0	0	1	4737	796	28	2		2	DPPA5	6	74063580	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	963142	74063580	97051487	674	18345											
COL12A1	1303	broad.mit.edu	37	chr6	75840613	75840614	+	Frame_Shift_Del	DEL	AC	AC	-													atttccctctccatccgagtAcagagccacaaggttcacgg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:75840613_75840614delAC	uc003phs.2	-	36	6187_6188	c.6021_6022delGT	c.(6019-6024)CTGTACfs	p.L2007fs	COL12A1_uc003pht.2_Frame_Shift_Del_p.L843fs	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2007_2008	Fibronectin type-III 15.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CCATCCGAGTACAGAGCCACAA	0.554													-	75840614	AC	-	75840613	7	5	20	1	0	1	0	1	0	0	0	0	3669	391	14	0	3293	0	COL12A1	6	75840613	Frame_Shift_Del	DEL	AC	TCGA-BR-4362-01A-01D-1158-08	1777033	75840613	95274454	675	18346											
HTR1B	3351	broad.mit.edu	37	chr6	78172873	78172873	+	Frame_Shift_Del	DEL	G	G	-													aggcgatcaggtagttagccGgggtgtgcagtttccgggtc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:78172873delG	uc003pil.1	-	1	248	c.248delC	c.(247-249)CCGfs	p.P83fs		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	83	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GTAGTTAGCCGGGGTGTGCAG	0.582													-	78172873	G	-	78172873	7	5	20	1	0	1	0	1	0	0	0	0	7437	1116	39	0	928	0	HTR1B	6	78172873	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	2332260	78172873	92942194	676	18347											
PHIP	55023	broad.mit.edu	37	chr6	79655139	79655139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagaattattcctagtgCcatgactaaaactggattga	8	7	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:79655139C>T	uc003pir.2	-	39	4932	c.4706G>A	c.(4705-4707)GGC>GAC	p.G1569D	PHIP_uc003piq.2_Missense_Mutation_p.G593D|PHIP_uc011dyp.1_Missense_Mutation_p.G1568D|IRAK1BP1_uc010kbg.1_RNA|PHIP_uc003pio.3_Missense_Mutation_p.G455D	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1569					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATTCCTAGTGCCATGACTAAA	0.358													T	79655139	C	T	79655139	3	4	20	1	0	0	0	0	1	0	0	0	11842	739	26	2	767	2	PHIP	6	79655139	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1482266	79655139	91459928	677	18348											
PGM3	5238	broad.mit.edu	37	chr6	83891504	83891504	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtcagctccacataaatgAttgagtttgcccttggaccc	8	11	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:83891504A>G	uc003pjv.2	-	6	778	c.738T>C	c.(736-738)AAT>AAC	p.N246N	PGM3_uc003pjw.2_Silent_p.N165N|PGM3_uc011dyz.1_Silent_p.N274N	NM_015599	NP_056414	O95394	AGM1_HUMAN	phosphoglucomutase 3	246					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		CACATAAATGATTGAGTTTGC	0.438													G	83891504	A	G	83891504	2	3	20	1	0	0	0	0	0	0	0	1	11800	330	12	3		3	PGM3	6	83891504	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	4236365	83891504	87223563	678	18349											
ZNF292	23036	broad.mit.edu	37	chr6	87965854	87965854	+	Frame_Shift_Del	DEL	A	A	-													tgatcacagtactcctcctgAaaaagtgctgcctcctgaag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:87965853_87965853GA>G	uc003plm.4	+	7	2547	c.2506_2506GA>G	c.(2506-2508)gaafs	p.E836fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	836					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TACTCCTCCTGAAAAAGTGCT	0.413													-	87965854	A	-	87965854	7	5	20	1	0	1	0	1	0	0	0	0	17823	246	9	0	2537	0	ZNF292	6	87965854	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	4074350	87965854	83149213	679	18350											
GABRR1	2569	broad.mit.edu	37	chr6	89888745	89888745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagttgccgtccagcatcGcagtgcggggcggaggtaat	16	9	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:89888745G>A	uc003pna.2	-	10	1639	c.1184C>T	c.(1183-1185)GCG>GTG	p.A395V	GABRR1_uc011dzv.1_Missense_Mutation_p.A372V	NM_002042	NP_002033	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 1	395	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GTCCAGCATCGCAGTGCGGGG	0.547													A	89888745	G	A	89888745	3	1	20	1	0	0	0	0	1	0	0	0	6176	1087	38	1	259	1	GABRR1	6	89888745	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1922891	89888745	81226322	680	18351											
MDN1	23195	broad.mit.edu	37	chr6	90366426	90366426	+	Frame_Shift_Del	DEL	T	T	-													gagtgatagaaacctgtgtgTttttcctggtgtgcttctgg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:90366425_90366425GT>G	uc003pnn.1	-	90	15395	c.15279_15279AC>C	c.(15277-15279)aacfs	p.N5093fs		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	5093					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAACCTGTGTGTTTTTCCTGG	0.433													-	90366426	T	-	90366426	7	5	20	1	0	1	0	1	0	0	0	0	9415	1725	60	0	1560	0	MDN1	6	90366426	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	477681	90366426	80748641	681	18352											
MDN1	23195	broad.mit.edu	37	chr6	90499923	90499923	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggactttgagaagctgaggAggctttgttctacctgtcac	12	8	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:90499923A>G	uc003pnn.1	-	6	1169	c.1053T>C	c.(1051-1053)CCT>CCC	p.P351P	MDN1_uc003pnp.1_Silent_p.P351P	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	351					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAAGCTGAGGAGGCTTTGTTC	0.413													G	90499923	A	G	90499923	2	3	20	1	0	0	0	0	0	0	0	1	9415	291	11	3		3	MDN1	6	90499923	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	133497	90499923	80615144	682	18353											
CASP8AP2	9994	broad.mit.edu	37	chr6	90572134	90572134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttctcattatcaggttggcGagggtagctcaaatgaggat	13	6	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:90572134G>A	uc003pnr.2	+	7	902	c.706G>A	c.(706-708)GAG>AAG	p.E236K	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.E236K|CASP8AP2_uc011dzz.1_Missense_Mutation_p.E236K	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	236					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCAGGTTGGCGAGGGTAGCTC	0.388													A	90572134	G	A	90572134	3	1	20	1	0	0	0	0	1	0	0	0	2678	1059	37	1	728	1	CASP8AP2	6	90572134	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	72211	90572134	80542933	683	18354											
EPHA7	2045	broad.mit.edu	37	chr6	94120499	94120499	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccctacatcctgaaaggcAagatagaatccctttttgga	8	11	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:94120499A>C	uc003poe.2	-	3	793	c.552T>G	c.(550-552)CTT>CTG	p.L184L	EPHA7_uc003pof.2_Silent_p.L184L|EPHA7_uc011eac.1_Silent_p.L184L|EPHA7_uc003pog.3_Silent_p.L184L	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	184	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCTGAAAGGCAAGATAGAATC	0.413													C	94120499	A	C	94120499	2	2	20	1	0	0	0	0	0	0	0	1	5172	117	5	5		5	EPHA7	6	94120499	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	3548365	94120499	76994568	684	18355											
MANEA	79694	broad.mit.edu	37	chr6	96053641	96053641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagatatggaaatcatccggCcttttacaggtacaagacga	9	8	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:96053641C>T	uc003poo.1	+	5	889	c.749C>T	c.(748-750)GCC>GTC	p.A250V		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	250	Catalytic (Probable).|Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		AATCATCCGGCCTTTTACAGG	0.348													T	96053641	C	T	96053641	3	4	20	1	0	0	0	0	1	0	0	0	9221	739	26	2	763	2	MANEA	6	96053641	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1933142	96053641	75061426	685	18356											
KIAA0776	23376	broad.mit.edu	37	chr6	96974275	96974275	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccatatcagaactgtgTaaaacttatgatcttcctgg	7	9	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:96974275T>C	uc003por.2	+	5	477	c.429T>C	c.(427-429)TGT>TGC	p.C143C	KIAA0776_uc010kck.2_RNA	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	143	Required for E3 UFM1-protein ligase activity.|Involved in CDK5RAP3-binding.				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)		CAGAACTGTGTAAAACTTATG	0.333													C	96974275	T	C	96974275	2	2	20	1	0	0	0	0	0	0	0	1	8193	1644	57	3		3	KIAA0776	6	96974275	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	920634	96974275	74140792	686	18357											
POU3F2	5454	broad.mit.edu	37	chr6	99284028	99284028	+	Frame_Shift_Del	DEL	G	G	-													cgggcgccgaggatgtgtacGgggggagtagggacactcca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:99284027_99284027CG>C	uc003ppe.3	+	0	1448	c.1278_1278CG>C	c.(1276-1278)tacfs	p.Y426fs		NM_005604	NP_005595	P20265	PO3F2_HUMAN	Homo sapiens POU class 3 homeobox 2 (POU3F2), mRNA.	426					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		AGGATGTGTACGGGGGGAGTA	0.637													-	99284028	G	-	99284028	7	5	20	1	0	1	0	1	0	0	0	0	12275	1116	39	0	1281	0	POU3F2	6	99284028	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	2309753	99284028	71831039	687	18358											
SIM1	6492	broad.mit.edu	37	chr6	100896103	100896103	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttctcaatcaggtcctgagGttcgtaccccgtcagctccg	9	15	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:100896103G>T	uc003pqj.3	-	7	976	c.769C>A	c.(769-771)CCT>ACT	p.P257T	SIM1_uc010kcu.2_Missense_Mutation_p.P257T	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	257	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGGTCCTGAGGTTCGTACCCC	0.642													T	100896103	G	T	100896103	3	4	20	1	0	0	0	0	1	0	0	0	14323	1261	44	5	1551	5	SIM1	6	100896103	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1612075	100896103	70218964	688	18359											
ASCC3	10973	broad.mit.edu	37	chr6	101049723	101049723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtcggaaaaagtaagtccAggtgatataatccaatgcat	9	7	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:101049723A>G	uc003pqk.2	-	34	5595	c.5266T>C	c.(5266-5268)TGG>CGG	p.W1756R		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1756					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AAGTAAGTCCAGGTGATATAA	0.378													G	101049723	A	G	101049723	3	3	20	1	0	0	0	0	1	0	0	0	1033	188	7	3	1378	3	ASCC3	6	101049723	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	153620	101049723	70065344	689	18360											
BVES	11149	broad.mit.edu	37	chr6	105563668	105563668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacatggagatctgtgtgCagaggctgagctgatgttcc	13	9	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:105563668C>T	uc003pqw.2	-	7	1008	c.851G>A	c.(850-852)TGC>TAC	p.C284Y	BVES_uc003pqx.2_Missense_Mutation_p.C284Y|BVES_uc003pqy.2_Missense_Mutation_p.C284Y	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance isoform 5	284	Cytoplasmic (Potential).				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity				0		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				GATCTGTGTGCAGAGGCTGAG	0.458													T	105563668	C	T	105563668	3	4	20	1	0	0	0	0	1	0	0	0	1575	710	25	2	239	2	BVES	6	105563668	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	4513945	105563668	65551399	690	18361											
PRDM1	639	broad.mit.edu	37	chr6	106552778	106552778	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtcccaaagagagagtAcagcgtgaaagaaatcctaa	10	7	0	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:106552778A>G	uc003prd.2	+	5	977	c.743A>G	c.(742-744)TAC>TGC	p.Y248C	PRDM1_uc003pre.2_Missense_Mutation_p.Y114C	NM_001198	NP_001189	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain isoform	248					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AAGAGAGAGTACAGCGTGAAA	0.448			D|N|Mis|F|S		DLBCL								G	106552778	A	G	106552778	3	3	20	1	0	0	0	0	1	0	0	0	12450	391	14	3	774	3	PRDM1	6	106552778	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	989110	106552778	64562289	691	18362											
WASF1	8936	broad.mit.edu	37	chr6	110423338	110423338	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaggtggtggaggaggTgggggagtggggctcacaaa	23	3	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:110423338T>G	uc003ptv.1	-	10	1812	c.975A>C	c.(973-975)CCA>CCC	p.P325P	WASF1_uc003ptw.1_Silent_p.P325P|WASF1_uc003ptx.1_Silent_p.P325P|WASF1_uc003pty.1_Silent_p.P325P	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Wiskott-Aldrich syndrome protein family member	325	Poly-Pro.				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding				0		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GTGGAGGAGGTGGGGGAGTGG	0.517													G	110423338	T	G	110423338	2	3	20	1	0	0	0	0	0	0	0	1	17249	1683	59	5		5	WASF1	6	110423338	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3870560	110423338	60691729	692	18363											
CDC40	51362	broad.mit.edu	37	chr6	110530384	110530384	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatggttttttgggaccatgGgcaaaatatgtggatgaaaa	13	3	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:110530384G>T	uc003pua.2	+	5	612	c.588G>T	c.(586-588)TGG>TGT	p.W196C		NM_015891	NP_056975	O60508	PRP17_HUMAN	cell division cycle 40 homolog	196					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm					0		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TGGGACCATGGGCAAAATATG	0.333													T	110530384	G	T	110530384	3	4	20	1	0	0	0	0	1	0	0	0	3070	1241	43	5	606	5	CDC40	6	110530384	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	107046	110530384	60584683	693	18364											
REV3L	5980	broad.mit.edu	37	chr6	111697457	111697457	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaatttttgcccaatgTattctcgttagggtgacggt	11	6	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:111697457T>C	uc003puy.3	-	13	2424	c.2101A>G	c.(2101-2103)ACA>GCA	p.T701A	REV3L_uc003pux.3_Missense_Mutation_p.T623A|REV3L_uc003puz.3_Missense_Mutation_p.T623A	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	701					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTGCCCAATGTATTCTCGTTA	0.333								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					C	111697457	T	C	111697457	3	2	20	1	0	0	0	0	1	0	0	0	13240	1638	57	3	7371	3	REV3L	6	111697457	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1167073	111697457	59417610	694	18365											
FYN	2534	broad.mit.edu	37	chr6	112025235	112025235	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actctcgcggataagaaaggTacctcttgggtttccaaagg	11	9	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:112025235T>C	uc003pvj.2	-	6	854	c.514A>G	c.(514-516)ACC>GCC	p.T172A	FYN_uc003pvi.2_Missense_Mutation_p.T172A|FYN_uc003pvk.2_Missense_Mutation_p.T172A|FYN_uc003pvh.2_Missense_Mutation_p.T172A|FYN_uc010kdy.1_5'Flank	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	172	SH2.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|central_nervous_system(1)|skin(1)	7		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	ATAAGAAAGGTACCTCTTGGG	0.408													C	112025235	T	C	112025235	3	2	20	1	0	0	0	0	1	0	0	0	6126	1638	57	3	1291	3	FYN	6	112025235	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	327778	112025235	59089832	695	18366											
LAMA4	3910	broad.mit.edu	37	chr6	112460455	112460455	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccggagccatcgaagaagTaactggcagcccgactctga	11	12	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:112460455T>C	uc003pvu.2	-	24	3458	c.3149A>G	c.(3148-3150)TAC>TGC	p.Y1050C	LAMA4_uc003pvv.2_Missense_Mutation_p.Y1043C|LAMA4_uc003pvt.2_Missense_Mutation_p.Y1043C	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1050	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATCGAAGAAGTAACTGGCAGC	0.468													C	112460455	T	C	112460455	3	2	20	1	0	0	0	0	1	0	0	0	8608	1638	57	3	2386	3	LAMA4	6	112460455	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	435220	112460455	58654612	696	18367											
COL10A1	1300	broad.mit.edu	37	chr6	116442889	116442889	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctggtaggccagctggTccaacatctccttttggtcc	11	13	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:116442889T>A	uc003pwm.2	-	3	486	c.390A>T	c.(388-390)GGA>GGT	p.G130G	NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	type X collagen alpha 1 precursor	130	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)	1		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GGCCAGCTGGTCCAACATCTC	0.597													A	116442889	T	A	116442889	2	1	20	1	0	0	0	0	0	0	0	1	3666	1654	58	5		5	COL10A1	6	116442889	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3982434	116442889	54672178	697	18368											
FAM184A	79632	broad.mit.edu	37	chr6	119285926	119285926	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaattccagctgataaaacTtattatcctcctatgcaaaa	3	10	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:119285926T>G	uc003pyj.2	-	16	3392	c.3044A>C	c.(3043-3045)AAG>ACG	p.K1015T	FAM184A_uc003pyk.3_Missense_Mutation_p.K846T|FAM184A_uc003pyl.3_Intron|FAM184A_uc003pyi.2_RNA	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	1015										ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						CTGATAAAACTTATTATCCTC	0.269													G	119285926	T	G	119285926	3	3	20	1	0	0	0	0	1	0	0	0	5511	1609	56	5	390	5	FAM184A	6	119285926	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2843037	119285926	51829141	698	18369											
ECHDC1	55862	broad.mit.edu	37	chr6	127652056	127652056	+	Frame_Shift_Del	DEL	T	T	-													accaggaaactgctgaagtgTttttttcacttcttcctcat					rs148450288		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:127652055_127652055GT>G	uc003qax.3	-	1	173	c.137_137AC>C	c.(136-138)acafs	p.T46fs	ECHDC1_uc003qaz.4_Frame_Shift_Del_p.T40fs|ECHDC1_uc010key.3_Intron|ECHDC1_uc003qay.4_Frame_Shift_Del_p.T40fs|ECHDC1_uc010kez.3_Intron	NM_001139510	NP_001099014	Q9NTX5	ECHD1_HUMAN	Homo sapiens enoyl CoA hydratase domain containing 1 (ECHDC1), transcript variant 5, mRNA.	46							catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		CTGCTGAAGTGTTTTTTTCAC	0.398													-	127652056	T	-	127652056	7	5	20	1	0	1	0	1	0	0	0	0	4893	1725	60	0	807	0	ECHDC1	6	127652056	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	8366130	127652056	43463011	699	18370											
PTPRK	5796	broad.mit.edu	37	chr6	128505813	128505813	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttggcatttagttggatcAgcaaatatgtaggcccaaca	10	7	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:128505813A>G	uc003qbk.2	-	7	1293	c.926T>C	c.(925-927)CTG>CCG	p.L309P	PTPRK_uc003qbj.2_Missense_Mutation_p.L309P|PTPRK_uc010kfc.2_Missense_Mutation_p.L309P|PTPRK_uc011ebu.1_Missense_Mutation_p.L309P|PTPRK_uc003qbl.1_Missense_Mutation_p.L179P|PTPRK_uc011ebv.1_Missense_Mutation_p.L309P	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	309	Fibronectin type-III 1.|Extracellular (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TAGTTGGATCAGCAAATATGT	0.448													G	128505813	A	G	128505813	3	3	20	1	0	0	0	0	1	0	0	0	12805	188	7	3	3514	3	PTPRK	6	128505813	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	853757	128505813	42609254	700	18371											
LAMA2	3908	broad.mit.edu	37	chr6	129781432	129781432	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctataggtttgtggaatttcCgagaaaaagaaggtgactgc	12	5	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:129781432C>T	uc003qbn.2	+	48	7060	c.6955C>T	c.(6955-6957)CGA>TGA	p.R2319*	LAMA2_uc003qbo.2_Nonsense_Mutation_p.R2319*	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2319	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTGGAATTTCCGAGAAAAAGA	0.418													T	129781432	C	T	129781432	4	4	20	1	0	0	0	0	0	1	0	0	8606	644	23	1	7149	1	LAMA2	6	129781432	Nonsense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1275619	129781432	41333635	701	18372											
ARG1	383	broad.mit.edu	37	chr6	131904532	131904532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctaagttttgatgttgacGgactggacccatctttcaca	8	9	3	2	rs104893948		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:131904532G>A	uc003qcp.1	+	7	761	c.703G>A	c.(703-705)GGA>AGA	p.G235R	ARG1_uc003qco.1_Intron|ARG1_uc010kfm.1_Missense_Mutation_p.G243R|MED23_uc003qcq.2_Intron	NM_000045	NP_000036	P05089	ARGI1_HUMAN	arginase 1	235			G -> R (in ARGIN).		arginine catabolic process|urea cycle	cytosol	arginase activity			ovary(1)	1	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	TGATGTTGACGGACTGGACCC	0.408													A	131904532	G	A	131904532	3	1	20	1	0	0	0	0	1	0	0	0	857	1117	39	1	729	1	ARG1	6	131904532	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2123100	131904532	39210535	702	18373											
TAAR6	319100	broad.mit.edu	37	chr6	132892319	132892319	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgcctttatgggctttAtaacccctgcctgtatttat	7	9	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:132892319A>G	uc011eck.1	+	1	859	c.859A>G	c.(859-861)ATA>GTA	p.I287V		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	287	Helical; Name=7; (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(1)	3	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TATGGGCTTTATAACCCCTGC	0.373													G	132892319	A	G	132892319	3	3	20	1	0	0	0	0	1	0	0	0	15489	449	16	3	861	3	TAAR6	6	132892319	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	987787	132892319	38222748	703	18374											
BCLAF1	9774	broad.mit.edu	37	chr6	136599456	136599456	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatgttcaaatgtatctTtcggttcctcctgtgattta	8	8	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:136599456T>C	uc003qgx.1	-	4	816	c.563A>G	c.(562-564)AAA>AGA	p.K188R	BCLAF1_uc003qgw.1_Missense_Mutation_p.K188R|BCLAF1_uc003qgy.1_Missense_Mutation_p.K186R|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.K186R	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	188					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAATGTATCTTTCGGTTCCTC	0.413													C	136599456	T	C	136599456	3	2	20	1	0	0	0	0	1	0	0	0	1383	1841	64	3	2239	3	BCLAF1	6	136599456	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3707137	136599456	34515611	704	18375											
KIAA1244	57221	broad.mit.edu	37	chr6	138584224	138584224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgggaaaccacaagaacaGtctcaagtcgccagccatcc	8	14	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:138584224G>A	uc003qhu.2	+	12	1604	c.1604G>A	c.(1603-1605)AGT>AAT	p.S535N		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	535					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CACAAGAACAGTCTCAAGTCG	0.557													A	138584224	G	A	138584224	3	1	20	1	0	0	0	0	1	0	0	0	8217	1029	36	4	1650	4	KIAA1244	6	138584224	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1984768	138584224	32530843	705	18376											
HECA	51696	broad.mit.edu	37	chr6	139488147	139488148	+	Frame_Shift_Ins	INS	-	-	G													gcggggttggcagttcacagINSggggggacacttcgacaccc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:139488146_139488147A>AG	uc003qin.3	+	1	1282_1283	c.997_998A>AG	c.(997-999)aggfs	p.R333fs		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	333					respiratory tube development			p.H336fs*25(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GGCAGTTCACAGGGGGGGACAC	0.589													G	139488148	-	G	139488147	7	5	20	1	0	1	1	0	0	0	0	0	7038	1000	35	0	1004	0	HECA	6	139488147	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	903923	139488147	31626920	706	18377											
TXLNB	167838	broad.mit.edu	37	chr6	139563773	139563773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggggctgcctactgggctCgcatgcaggcaccatggctg	16	12	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:139563773C>T	uc011eds.1	-	10	2110	c.1945G>A	c.(1945-1947)GAG>AAG	p.E649K		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	649						cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTACTGGGCTCGCATGCAGGC	0.652													T	139563773	C	T	139563773	3	4	20	1	0	0	0	0	1	0	0	0	16785	893	31	1	113	1	TXLNB	6	139563773	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	75626	139563773	31551294	707	18378											
UTRN	7402	broad.mit.edu	37	chr6	144898277	144898277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggaggctgagtggaggacGgtgcaggcctctcgcagaga	18	8	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:144898277G>A	uc003qkt.2	+	50	7424	c.7332G>A	c.(7330-7332)ACG>ACA	p.T2444T		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2444	Spectrin 17.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGTGGAGGACGGTGCAGGCCT	0.498													A	144898277	G	A	144898277	2	1	20	1	0	0	0	0	0	0	0	1	17100	1103	39	1		1	UTRN	6	144898277	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	5334504	144898277	26216790	708	18379											
FBXO30	84085	broad.mit.edu	37	chr6	146127271	146127271	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgattccattccatagTacagcacaccacacttgcag	5	15	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:146127271T>C	uc003qla.2	-	2	470	c.271A>G	c.(271-273)ACT>GCT	p.T91A	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	91	TRAF-type.						ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CATTCCATAGTACAGCACACC	0.423													C	146127271	T	C	146127271	3	2	20	1	0	0	0	0	1	0	0	0	5740	1638	57	3	1974	3	FBXO30	6	146127271	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1228994	146127271	24987796	709	18380											
SHPRH	257218	broad.mit.edu	37	chr6	146247355	146247355	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attacctcttcctcaagtcgGccatcacgcaaggtaggtgg	10	12	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:146247355G>A	uc003qlf.2	-	16	3678	c.3279C>T	c.(3277-3279)GGC>GGT	p.G1093G	SHPRH_uc003qld.2_Silent_p.G1102G|SHPRH_uc003qle.2_Silent_p.G1102G|SHPRH_uc003qlg.1_Silent_p.G649G|SHPRH_uc003qlh.2_Silent_p.G18G|SHPRH_uc003qli.1_Silent_p.G18G	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	1093					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CCTCAAGTCGGCCATCACGCA	0.378													A	146247355	G	A	146247355	2	1	20	1	0	0	0	0	0	0	0	1	14291	1190	42	2		2	SHPRH	6	146247355	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	120084	146247355	24867712	710	18381											
GRM1	2911	broad.mit.edu	37	chr6	146755082	146755082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacagcatatgtggcaccGcctctctgtgcacgtgaaga	13	11	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:146755082G>A	uc010khw.1	+	9	3205	c.2735G>A	c.(2734-2736)CGC>CAC	p.R912H	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_Silent_p.P900P	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	912	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ATGTGGCACCGCCTCTCTGTG	0.507													A	146755082	G	A	146755082	3	1	20	1	0	0	0	0	1	0	0	0	6796	1087	38	1	2830	1	GRM1	6	146755082	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	507727	146755082	24359985	711	18382											
SUMO4	387082	broad.mit.edu	37	chr6	149721537	149721537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtgttcaccatggccaacGaaaagcccacagaagaagtc	10	12	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:149721537G>A	uc003qml.2	+	1	43	c.10G>A	c.(10-12)GAA>AAA	p.E4K	TAB2_uc011eec.1_Intron|TAB2_uc003qmj.2_Intron|TAB2_uc003qmk.3_Intron	NM_001002255	NP_001002255	Q6EEV6	SUMO4_HUMAN	SMT3 suppressor of mif two 3 homolog 4	4											0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;7.91e-12)|GBM - Glioblastoma multiforme(68;0.0282)		CATGGCCAACGAAAAGCCCAC	0.507													A	149721537	G	A	149721537	3	1	20	1	0	0	0	0	1	0	0	0	15387	1059	37	1	12	1	SUMO4	6	149721537	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2966455	149721537	21393530	712	18383											
ULBP3	79465	broad.mit.edu	37	chr6	150385828	150385828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctttgggttgagctaagCctggggccatggtgggtggt	19	6	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:150385828C>T	uc003qns.3	-	4	650	c.650G>A	c.(649-651)GGC>GAC	p.G217D	ULBP3_uc011eej.1_Missense_Mutation_p.G92D	NM_024518	NP_078794	Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3 precursor	217					antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity				0		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		TTGAGCTAAGCCTGGGGCCAT	0.537													T	150385828	C	T	150385828	3	4	20	1	0	0	0	0	1	0	0	0	16971	739	26	2	87	2	ULBP3	6	150385828	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	664291	150385828	20729239	713	18384											
MTHFD1L	25902	broad.mit.edu	37	chr6	151281413	151281413	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttgggctggttcaggcGcagtttgacatcgcagtggc	16	8	1	1	rs146093887	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:151281413G>A	uc003qob.2	+	18	2074	c.1806G>A	c.(1804-1806)GCG>GCA	p.A602A	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Silent_p.A603A|MTHFD1L_uc003qoc.2_Silent_p.A550A	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	602	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGGTTCAGGCGCAGTTTGACA	0.612													A	151281413	G	A	151281413	2	1	20	1	0	0	0	0	0	0	0	1	9928	1074	38	1		1	MTHFD1L	6	151281413	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	895585	151281413	19833654	714	18385											
AKAP12	9590	broad.mit.edu	37	chr6	151670524	151670525	+	Frame_Shift_Ins	INS	-	-	A													aaaaaggaacaagagccagaINSaaaagtagacacagaagaag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:151670523_151670524G>GA	uc011eep.2	+	3	1237_1238	c.997_998G>GA	c.(997-999)gaafs	p.E333fs	AKAP12_uc003qoe.3_Frame_Shift_Ins_p.E333fs|AKAP12_uc003qof.3_Frame_Shift_Ins_p.E235fs|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Frame_Shift_Ins_p.E228fs	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	333	Involved in PKC-binding (Probable).				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ACAAGAGCCAGAAAAAGTAGAC	0.545													A	151670525	-	A	151670524	7	5	20	1	0	1	1	0	0	0	0	0	448	246	9	0	1037	0	AKAP12	6	151670524	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	389111	151670524	19444543	715	18386											
AKAP12	9590	broad.mit.edu	37	chr6	151670579	151670579	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcctccgagaaactgacCgcctccgagcaagcccaccc	9	18	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:151670579C>T	uc011eep.1	+	4	1293	c.1053C>T	c.(1051-1053)ACC>ACT	p.T351T	AKAP12_uc003qoe.2_Silent_p.T351T|AKAP12_uc003qof.2_Silent_p.T253T|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.T246T	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	351	Involved in PKC-binding (Probable).				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGAAACTGACCGCCTCCGAGC	0.532													T	151670579	C	T	151670579	2	4	20	1	0	0	0	0	0	0	0	1	448	639	23	1		1	AKAP12	6	151670579	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	55	151670579	19444488	716	18387											
C6orf211	79624	broad.mit.edu	37	chr6	151775736	151775736	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accacagatcttaactaaggTtattgatacattgcatcgac	6	9	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:151775736T>C	uc003qok.1	+	2	354	c.95T>C	c.(94-96)GTT>GCT	p.V32A	C6orf211_uc011ees.1_Intron|RMND1_uc003qoi.2_5'Flank	NM_024573	NP_078849	Q9H993	CF211_HUMAN	hypothetical protein LOC79624	32							protein binding				0			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TTAACTAAGGTTATTGATACA	0.284													C	151775736	T	C	151775736	3	2	20	1	0	0	0	0	1	0	0	0	2354	1725	60	3	101	3	C6orf211	6	151775736	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	105157	151775736	19339331	717	18388											
SYNE1	23345	broad.mit.edu	37	chr6	152782789	152782789	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacatttcttttccttcttcTtgggggctttctttggtaat	7	8	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:152782789T>C	uc010kiw.2	-	21	2939	c.2337A>G	c.(2335-2337)CAA>CAG	p.Q779Q	SYNE1_uc003qot.3_Silent_p.Q786Q|SYNE1_uc003qou.3_Silent_p.Q779Q|SYNE1_uc010kjb.1_Silent_p.Q762Q|SYNE1_uc003qow.2_Silent_p.Q74Q|SYNE1_uc003qox.1_Silent_p.Q295Q|SYNE1_uc003qoz.2_Silent_p.Q211Q|SYNE1_uc003qoy.2_Silent_p.Q346Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	779	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)		TTCCTTCTTCTTGGGGGCTTT	0.423										HNSCC(10;0.0054)			C	152782789	T	C	152782789	2	2	20	1	0	0	0	0	0	0	0	1	15442	1606	56	3		3	SYNE1	6	152782789	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1007053	152782789	18332278	718	18389											
MYCT1	80177	broad.mit.edu	37	chr6	153043068	153043068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggattttaccgccacagtGgctgtgaacgtcgaagcaac	11	11	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:153043068G>A	uc003qpd.3	+	2	396	c.388G>A	c.(388-390)GGC>AGC	p.G130S	MYCT1_uc010kjc.1_Intron|MYCT1_uc003qpc.3_Missense_Mutation_p.G130S	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	myc target 1	130						nucleus				ovary(1)	1		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CCGCCACAGTGGCTGTGAACG	0.507													A	153043068	G	A	153043068	3	1	20	1	0	0	0	0	1	0	0	0	10022	1348	47	4	394	4	MYCT1	6	153043068	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	260279	153043068	18071999	719	18390											
TFB1M	51106	broad.mit.edu	37	chr6	155635562	155635562	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagttttccggaggcagccaTgatacgcggcaagcaccatc	12	12	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:155635562T>C	uc003qqj.3	-	1	65	c.1A>G	c.(1-3)ATG>GTG	p.M1V	TFB1M_uc003qqk.2_RNA	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			skin(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		GAGGCAGCCATGATACGCGGC	0.577													C	155635562	T	C	155635562	3	2	20	1	0	0	0	0	1	0	0	0	15790	1464	51	3	1067	3	TFB1M	6	155635562	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2592494	155635562	15479505	720	18391											
ARID1B	57492	broad.mit.edu	37	chr6	157525016	157525016	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagttactcctgaggcgtgGcgtgtgatgatgtcccttaa	12	9	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:157525016G>A	uc003qqn.2	+	19	5009	c.4857G>A	c.(4855-4857)TGG>TGA	p.W1619*	ARID1B_uc003qqo.2_Nonsense_Mutation_p.W1579*|ARID1B_uc003qqp.2_Nonsense_Mutation_p.W1566*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1624					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTGAGGCGTGGCGTGTGATGA	0.403													A	157525016	G	A	157525016	4	1	20	1	0	0	0	0	0	1	0	0	914	1212	42	2	4985	2	ARID1B	6	157525016	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1889454	157525016	13590051	721	18392											
ARID1B	57492	broad.mit.edu	37	chr6	157527398	157527398	+	Frame_Shift_Del	DEL	A	A	-													tgaagtgggagaccccagccAaaaagcacttgatcacaacg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:157527397_157527397CA>C	uc003qqp.3	+	18	5083	c.5083_5083CA>C	c.(5083-5085)caafs	p.Q1695fs	ARID1B_uc003qqo.3_Frame_Shift_Del_p.Q1708fs|ARID1B_uc003qqn.3_Frame_Shift_Del_p.Q1748fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1695					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGACCCCAGCCAAAAAGCACT	0.438													-	157527398	A	-	157527398	7	5	20	1	0	1	0	1	0	0	0	0	914	130	5	0	5201	0	ARID1B	6	157527398	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	2382	157527398	13587669	722	18393											
C6orf35	729515	broad.mit.edu	37	chr6	157744464	157744464	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttaaccaggaaaagccggTcattcgtggaccccggagcc	11	13	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:157744464T>A	uc003sih.3	-	1	331	c.68A>T	c.(67-69)GAC>GTC	p.D23V		NM_018452	NP_060922	Q9NWH2	CF035_HUMAN	hypothetical protein LOC729515	23						integral to membrane					0						GAAAAGCCGGTCATTCGTGGA	0.637													A	157744464	T	A	157744464	3	1	20	1	0	0	0	0	1	0	0	0	2363	1667	58	5	373	5	C6orf35	6	157744464	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	217066	157744464	13370603	723	18394											
TULP4	56995	broad.mit.edu	37	chr6	158923938	158923938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagcgcccgcgaccgcacCgactacgtcaactcggcctt	10	18	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:158923938C>T	uc003qrf.2	+	13	4600	c.3243C>T	c.(3241-3243)ACC>ACT	p.T1081T	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1081					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCGACCGCACCGACTACGTCA	0.682													T	158923938	C	T	158923938	2	4	20	1	0	0	0	0	0	0	0	1	16773	639	23	1		1	TULP4	6	158923938	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1179474	158923938	12191129	724	18395											
RSPH3	83861	broad.mit.edu	37	chr6	159399367	159399367	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattagccatggaagaaatcCtatctcaatatctgtaataa	5	8	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:159399367C>A	uc003qrx.2	-	7	1487	c.1297G>T	c.(1297-1299)GGA>TGA	p.G433*	RSPH3_uc010kju.2_Nonsense_Mutation_p.G337*	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog	433										ovary(1)|skin(1)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GGAAGAAATCCTATCTCAATA	0.308													A	159399367	C	A	159399367	4	1	20	1	0	0	0	0	0	1	0	0	13705	690	24	5	393	5	RSPH3	6	159399367	Nonsense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	475429	159399367	11715700	725	18396											
IGF2R	3482	broad.mit.edu	37	chr6	160483631	160483631	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggagaactgtggaagcctGtcccgttgtcagagtggaag	15	8	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:160483631G>T	uc003qta.2	+	26	3798	c.3650G>T	c.(3649-3651)TGT>TTT	p.C1217F		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1217	8.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GTGGAAGCCTGTCCCGTTGTC	0.458													T	160483631	G	T	160483631	3	4	20	1	0	0	0	0	1	0	0	0	7576	1377	48	5	3752	5	IGF2R	6	160483631	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1084264	160483631	10631436	726	18397											
RPS6KA2	6196	broad.mit.edu	37	chr6	166833418	166833418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaactccagatgtcacacGccgcatcatagccttgacgc	7	16	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:166833418G>A	uc003qvb.1	-	18	1991	c.1772C>T	c.(1771-1773)GCG>GTG	p.A591V	RPS6KA2_uc011ego.1_Missense_Mutation_p.A502V|RPS6KA2_uc010kkl.1_Missense_Mutation_p.A502V|RPS6KA2_uc003qvc.1_Missense_Mutation_p.A599V|RPS6KA2_uc003qvd.1_Missense_Mutation_p.A616V|RPS6KA2_uc010kkk.1_Missense_Mutation_p.A23V	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	591	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GATGTCACACGCCGCATCATA	0.562													A	166833418	G	A	166833418	3	1	20	1	0	0	0	0	1	0	0	0	13651	1087	38	1	445	1	RPS6KA2	6	166833418	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	6349787	166833418	4281649	727	18398											
KIF25	3834	broad.mit.edu	37	chr6	168439368	168439368	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagcgtgaggtggtgacAgccaaggatggacggacaga	17	7	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:168439368A>G	uc003qwk.1	+	5	715	c.453A>G	c.(451-453)ACA>ACG	p.T151T	KIF25_uc003qwl.1_Silent_p.T151T	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	kinesin family member 25 isoform 1	151	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(1)|pancreas(1)	2		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AGGTGGTGACAGCCAAGGATG	0.552													G	168439368	A	G	168439368	2	3	20	1	0	0	0	0	0	0	0	1	8293	175	7	3		3	KIF25	6	168439368	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1605950	168439368	2675699	728	18399											
DLL1	28514	broad.mit.edu	37	chr6	170594674	170594674	+	Frame_Shift_Del	DEL	C	C	-													taccctggttgcagaaaaggCccccccagccttcctggcag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:170594673_170594673GC>G	uc003qxm.3	-	5	1316	c.846_846GC>C	c.(844-846)ggcfs	p.G282fs		NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	282	EGF-like 2.				Notch receptor processing|Notch signaling pathway|cell communication|cell fate determination|hemopoiesis|regulation of cell adhesion	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TGCAGAAAAGGCCCCCCCAGC	0.602													-	170594674	C	-	170594674	7	5	20	1	0	1	0	1	0	0	0	0	4566	739	26	0	1350	0	DLL1	6	170594674	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	2155306	170594674	520393	729	18400											
SUN1	23353	broad.mit.edu	37	chr7	892561	892561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggacgtgtttaaacccaCgacttctcgcctgaagcagc	9	14	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:892561C>T	uc011jvp.1	+	10	1104	c.1025C>T	c.(1024-1026)ACG>ATG	p.T342M	GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.T259M|SUN1_uc011jvq.1_Missense_Mutation_p.T239M|SUN1_uc003sjg.2_Missense_Mutation_p.T247M|SUN1_uc011jvr.1_Missense_Mutation_p.T151M|SUN1_uc003sji.2_Missense_Mutation_p.T180M|SUN1_uc003sjk.2_Translation_Start_Site	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	369	Perinuclear space.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						TTTAAACCCACGACTTCTCGC	0.562													T	892561	C	T	892561	3	4	20	1	0	0	0	0	1	0	0	0	15388	536	19	1	1242	1	SUN1	7	892561	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08		892561	158246102	730	18401											
ADAP1	11033	broad.mit.edu	37	chr7	938896	938896	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcccctcgggcgaaggcGtcctgtgggtggggaccgca	16	13	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:938896G>A	uc003sjo.3	-	10	1046	c.870C>T	c.(868-870)GAC>GAT	p.D290D	ADAP1_uc003sjm.3_Silent_p.D116D|ADAP1_uc011jvs.1_Silent_p.D195D|ADAP1_uc003sjn.3_Silent_p.D218D|ADAP1_uc010ksc.2_Silent_p.D218D	NM_006869	NP_006860	O75689	ADAP1_HUMAN	centaurin, alpha 1	290	PH 2.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			upper_aerodigestive_tract(1)	1						GGGCGAAGGCGTCCTGTGGGT	0.687													A	938896	G	A	938896	2	1	20	1	0	0	0	0	0	0	0	1	279	1136	40	1		1	ADAP1	7	938896	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	46335	938896	158199767	731	18402											
INTS1	26173	broad.mit.edu	37	chr7	1535897	1535897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatgtgcaccacgaagcGctcctgcaggtgcagcacgg	15	12	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:1535897G>A	uc003skn.2	-	12	1707	c.1606C>T	c.(1606-1608)CGC>TGC	p.R536C	INTS1_uc003skp.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	536					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ACCACGAAGCGCTCCTGCAGG	0.642													A	1535897	G	A	1535897	3	1	20	1	0	0	0	0	1	0	0	0	7775	1087	38	1	5114	1	INTS1	7	1535897	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	597001	1535897	157602766	732	18403											
INTS1	26173	broad.mit.edu	37	chr7	1538426	1538426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgacgtccatgtcttcGgaaccgtgcgtgttgcagtt	13	9	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:1538426G>A	uc003skn.2	-	9	1301	c.1200C>T	c.(1198-1200)TCC>TCT	p.S400S	INTS1_uc003skq.2_Silent_p.S400S	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	400					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCATGTCTTCGGAACCGTGCG	0.637													A	1538426	G	A	1538426	2	1	20	1	0	0	0	0	0	0	0	1	7775	1103	39	1		1	INTS1	7	1538426	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2529	1538426	157600237	733	18404											
INTS1	26173	broad.mit.edu	37	chr7	1539893	1539893	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtgctgtcaggcttggcGcgggtgaccttcagctgctt	16	10	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:1539893G>A	uc003skn.2	-	4	560	c.459C>T	c.(457-459)CGC>CGT	p.R153R	INTS1_uc003skq.2_Silent_p.R153R	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	153					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CAGGCTTGGCGCGGGTGACCT	0.632													A	1539893	G	A	1539893	2	1	20	1	0	0	0	0	0	0	0	1	7775	1074	38	1		1	INTS1	7	1539893	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1467	1539893	157598770	734	18405											
CARD11	84433	broad.mit.edu	37	chr7	2979408	2979408	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatggactgcagctcctggTttttggtcttcagcatttca	10	9	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:2979408T>G	uc003smv.2	-	6	1243	c.839A>C	c.(838-840)AAC>ACC	p.N280T		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	280	Potential.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CAGCTCCTGGTTTTTGGTCTT	0.557			Mis		DLBCL								G	2979408	T	G	2979408	3	3	20	1	0	0	0	0	1	0	0	0	2645	1725	60	5	2705	5	CARD11	7	2979408	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1439515	2979408	156159255	735	18406											
SDK1	221935	broad.mit.edu	37	chr7	4213858	4213858	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgatgtctttgcagcctcCgagggacgaaagcctgaatg	13	9	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:4213858C>A	uc003smx.2	+	33	4944	c.4805C>A	c.(4804-4806)CCG>CAG	p.P1602Q	SDK1_uc010kso.2_Missense_Mutation_p.P878Q|SDK1_uc003smy.2_Missense_Mutation_p.P89Q	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1602	Fibronectin type-III 10.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TTGCAGCCTCCGAGGGACGAA	0.577													A	4213858	C	A	4213858	3	1	20	1	0	0	0	0	1	0	0	0	13968	652	23	5	4935	5	SDK1	7	4213858	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1234450	4213858	154924805	736	18407											
WIPI2	26100	broad.mit.edu	37	chr7	5267842	5267842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgatgaagcagcaccGgtgagtctgctccggccgct	13	14	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:5267842G>A	uc003snv.2	+	11	1337	c.1121G>A	c.(1120-1122)CGG>CAG	p.R374Q	WIPI2_uc003snw.2_Missense_Mutation_p.R374Q|WIPI2_uc003snx.2_Missense_Mutation_p.R356Q|WIPI2_uc003sny.2_Missense_Mutation_p.R356Q|WIPI2_uc010ksv.2_Missense_Mutation_p.R230Q|WIPI2_uc003soa.2_Missense_Mutation_p.R315Q|WIPI2_uc003sob.2_Missense_Mutation_p.R117Q	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	374					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		AAGCAGCACCGGTGAGTCTGC	0.627													A	5267842	G	A	5267842	3	1	20	1	0	0	0	0	1	0	0	0	17368	1130	39	1	1197	1	WIPI2	7	5267842	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1053984	5267842	153870821	737	18408											
FSCN1	6624	broad.mit.edu	37	chr7	5632671	5632671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcgggttcaaggtgaacgCgtccgccagcagcctgaaga	14	11	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:5632671C>T	uc003sou.2	+	1	218	c.104C>T	c.(103-105)GCG>GTG	p.A35V		NM_003088	NP_003079	Q16658	FSCN1_HUMAN	fascin 1	35					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			ovary(1)	1		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		AAGGTGAACGCGTCCGCCAGC	0.677													T	5632671	C	T	5632671	3	4	20	1	0	0	0	0	1	0	0	0	6067	768	27	1	106	1	FSCN1	7	5632671	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	364829	5632671	153505992	738	18409											
THSD7A	221981	broad.mit.edu	37	chr7	11514158	11514158	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcattacagcttcgtacTtcttgcaaagcactgctatt	6	11	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:11514158T>G	uc003ssf.3	-	8	2307	c.2055A>C	c.(2053-2055)GAA>GAC	p.E685D		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	685	TSP type-1 6.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGCTTCGTACTTCTTGCAAAG	0.468										HNSCC(18;0.044)			G	11514158	T	G	11514158	3	3	20	1	0	0	0	0	1	0	0	0	15876	1606	56	5	2998	5	THSD7A	7	11514158	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	5881487	11514158	147624505	739	18410											
ETV1	2115	broad.mit.edu	37	chr7	13975473	13975473	+	Frame_Shift_Del	DEL	G	G	-													actggcgtgctggatggtgtGggggggttggagggcctcat							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:13975472_13975472TG>T	uc021zzz.1	-	5	502	c.415_415CA>A	c.(415-417)acafs	p.T139fs	ETV1_uc021zzt.1_Frame_Shift_Del_p.T99fs|ETV1_uc021zzu.1_Intron|ETV1_uc021zzv.1_Frame_Shift_Del_p.T81fs|ETV1_uc021zzw.1_Frame_Shift_Del_p.T99fs|ETV1_uc021zzx.1_Intron|ETV1_uc021zzy.1_Frame_Shift_Del_p.T81fs|ETV1_uc022aaa.1_Frame_Shift_Del_p.T121fs|ETV1_uc022aab.1_Frame_Shift_Del_p.T139fs|ETV1_uc003ssw.4_Frame_Shift_Del_p.T139fs|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Frame_Shift_Del_p.T121fs|ETV1_uc022aad.1_Frame_Shift_Del_p.T121fs|ETV1_uc010ktv.3_Frame_Shift_Del_p.T8fs	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	139					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGGATGGTGTGGGGGGGTTG	0.532			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								-	13975473	G	-	13975473	7	5	20	1	0	1	0	1	0	0	0	0	5277	1335	47	0	1047	0	ETV1	7	13975473	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	2461315	13975473	145163190	740	18411											
AHR	196	broad.mit.edu	37	chr7	17374530	17374530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagaattgttttaggaTatactgaagcagagctgtgc	13	4	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:17374530T>C	uc011jxz.1	+	8	1541	c.928T>C	c.(928-930)TAT>CAT	p.Y310H	AHR_uc003stt.3_RNA	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor precursor	310	PAS 2.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TGTTTTAGGATATACTGAAGC	0.328													C	17374530	T	C	17374530	3	2	20	1	0	0	0	0	1	0	0	0	416	1406	49	3	958	3	AHR	7	17374530	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3399057	17374530	141764133	741	18412											
TWISTNB	221830	broad.mit.edu	37	chr7	19739896	19739896	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctagaagacactttattaActataccctgggaagaagaa	9	7	0	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:19739896A>G	uc003sup.1	-	3	425	c.404T>C	c.(403-405)GTT>GCT	p.V135A		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	TWIST neighbor	135						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			ovary(1)	1						CACTTTATTAACTATACCCTG	0.403													G	19739896	A	G	19739896	3	3	20	1	0	0	0	0	1	0	0	0	16781	43	2	3	620	3	TWISTNB	7	19739896	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2365366	19739896	139398767	742	18413											
MACC1	346389	broad.mit.edu	37	chr7	20198704	20198704	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaatcttgtggcttgtcaAgtaaaaatgactgcttcccc	7	9	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:20198704A>G	uc003sus.3	-	5	1589	c.1280T>C	c.(1279-1281)CTT>CCT	p.L427P	MACC1_uc010kug.2_Missense_Mutation_p.L427P	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	427					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3						TGGCTTGTCAAGTAAAAATGA	0.348													G	20198704	A	G	20198704	3	3	20	1	0	0	0	0	1	0	0	0	9143	72	3	3	1290	3	MACC1	7	20198704	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	458808	20198704	138939959	743	18414											
DNAH11	8701	broad.mit.edu	37	chr7	21818688	21818688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagacggagaaagtgagccGggaaaagaccatcgctgatg	14	8	1	5			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:21818688G>A	uc003svc.2	+	58	9501	c.9470G>A	c.(9469-9471)CGG>CAG	p.R3157Q		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3157	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AAAGTGAGCCGGGAAAAGACC	0.478									Kartagener_syndrome				A	21818688	G	A	21818688	3	1	20	1	0	0	0	0	1	0	0	0	4599	1116	39	1	9697	1	DNAH11	7	21818688	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1619984	21818688	137319975	744	18415											
DNAH11	8701	broad.mit.edu	37	chr7	21894039	21894039	+	Frame_Shift_Del	DEL	A	A	-													ttttgttattaatgacctccAaaaaatcaaccccctctacc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:21894038_21894038CA>C	uc003svc.3	+	68	11219	c.11188_11188CA>C	c.(11188-11190)caafs	p.Q3730fs		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3730					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAATGACCTCCAAAAAATCAA	0.378									Kartagener syndrome				-	21894039	A	-	21894039	7	5	20	1	0	1	0	1	0	0	0	0	4599	130	5	0	11460	0	DNAH11	7	21894039	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	75351	21894039	137244624	745	18416											
HIBADH	11112	broad.mit.edu	37	chr7	27672063	27672063	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctgctggggaagatactAcctttaaaaaaaattgcaaa	7	7	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:27672063A>G	uc003szf.2	-	3	449	c.254T>C	c.(253-255)GTA>GCA	p.V85A	HIBADH_uc003szg.2_Missense_Mutation_p.V36A|HIBADH_uc003szh.2_5'UTR|HIBADH_uc003szi.2_Missense_Mutation_p.V36A	NM_152740	NP_689953	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase precursor	85					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			ovary(2)	2			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	GGAAGATACTACCTTTAAAAA	0.373													G	27672063	A	G	27672063	3	3	20	1	0	0	0	0	1	0	0	0	7099	405	14	3	780	3	HIBADH	7	27672063	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	5778024	27672063	131466600	746	18417											
CHN2	1124	broad.mit.edu	37	chr7	29552299	29552299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccctgcatgatatgcggtAccaaaagctgattgtgcaga	10	10	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:29552299A>G	uc003szz.2	+	13	1792	c.1355A>G	c.(1354-1356)TAC>TGC	p.Y452C	CHN2_uc011jzs.1_Missense_Mutation_p.Y527C|CHN2_uc010kva.2_3'UTR|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_Missense_Mutation_p.Y417C|CHN2_uc011jzt.1_Missense_Mutation_p.Y465C|CHN2_uc010kvd.2_Missense_Mutation_p.Y308C|CHN2_uc011jzu.1_Missense_Mutation_p.Y437C|CHN2_uc010kvg.2_Missense_Mutation_p.Y270C|CHN2_uc010kvh.2_Missense_Mutation_p.Y212C|CHN2_uc010kvi.2_Missense_Mutation_p.Y244C|CHN2_uc010kve.2_3'UTR|CHN2_uc003taa.2_Missense_Mutation_p.Y316C|CHN2_uc010kvf.2_Missense_Mutation_p.Y258C|CHN2_uc010kvj.2_Missense_Mutation_p.Y225C|CHN2_uc010kvk.2_Missense_Mutation_p.Y127C|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.Y271C|CHN2_uc011jzv.1_Missense_Mutation_p.Y245C	NM_004067	NP_004058	P52757	CHIO_HUMAN	beta chimerin isoform 2	452	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)	2						GATATGCGGTACCAAAAGCTG	0.473													G	29552299	A	G	29552299	3	3	20	1	0	0	0	0	1	0	0	0	3363	391	14	3	1573	3	CHN2	7	29552299	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1880236	29552299	129586364	747	18418											
GARS	2617	broad.mit.edu	37	chr7	30671954	30671954	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggactgatgagattggCgtggcttttggtgtcaccat	14	8	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:30671954C>T	uc003tbm.2	+	16	2352	c.1995C>T	c.(1993-1995)GGC>GGT	p.G665G		NM_002047	NP_002038	P41250	SYG_HUMAN	glycyl-tRNA synthetase	665					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			ovary(1)	1					Glycine(DB00145)	ATGAGATTGGCGTGGCTTTTG	0.527													T	30671954	C	T	30671954	2	4	20	1	0	0	0	0	0	0	0	1	6242	755	27	1		1	GARS	7	30671954	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1119655	30671954	128466709	748	18419											
BBS9	27241	broad.mit.edu	37	chr7	33545142	33545142	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtcattcaccaggctgaAgagtgccacccatttggtga	10	12	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:33545142A>C	uc003tdn.1	+	20	2696	c.2183A>C	c.(2182-2184)AAG>ACG	p.K728T	BBS9_uc003tdo.1_Missense_Mutation_p.K693T|BBS9_uc003tdp.1_Missense_Mutation_p.K723T|BBS9_uc003tdq.1_Missense_Mutation_p.K688T|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.K252T|BBS9_uc003tds.1_Missense_Mutation_p.K151T|BBS9_uc003tdt.2_RNA	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	728					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			ACCAGGCTGAAGAGTGCCACC	0.483									Bardet-Biedl_syndrome				C	33545142	A	C	33545142	3	2	20	1	0	0	0	0	1	0	0	0	1342	72	3	5	2257	5	BBS9	7	33545142	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2873188	33545142	125593521	749	18420											
TBX20	57057	broad.mit.edu	37	chr7	35289643	35289643	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggtctccaggctgcaggcAattttggccatttcctcact	9	12	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:35289643A>G	uc011kas.1	-	2	311	c.300T>C	c.(298-300)ATT>ATC	p.I100I		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	T-box transcription factor TBX20	100						nucleus	DNA binding			central_nervous_system(1)	1						GGCTGCAGGCAATTTTGGCCA	0.582													G	35289643	A	G	35289643	2	3	20	1	0	0	0	0	0	0	0	1	15653	126	5	3		3	TBX20	7	35289643	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1744501	35289643	123849020	750	18421											
EEPD1	80820	broad.mit.edu	37	chr7	36194770	36194770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagaaggccaacaacccCggggtgcgagaggtggtgtg	19	8	0	2	rs143445715		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:36194770C>T	uc003tfa.2	+	2	1477	c.837C>T	c.(835-837)CCC>CCT	p.P279P		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	279					DNA repair		DNA binding				0						CCAACAACCCCGGGGTGCGAG	0.607													T	36194770	C	T	36194770	2	4	20	1	0	0	0	0	0	0	0	1	4932	639	23	1		1	EEPD1	7	36194770	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	905127	36194770	122943893	751	18422											
TARP	445347	broad.mit.edu	37	chr7	38305159	38305159	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttgccaatgtatcttaataAcatcagggaaaaatttctca	5	8	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:38305159A>T	uc003tge.1	-	5	925	c.548T>A	c.(547-549)GTT>GAT	p.V183D	uc003tfz.1_Intron|TARP_uc003tgb.2_5'UTR|TARP_uc003tgc.1_5'UTR|TARP_uc003tgd.1_5'UTR|TARP_uc010kxi.1_RNA|TARP_uc003tgf.1_RNA|TARP_uc003tgj.1_RNA|TARP_uc003tgh.1_RNA|TARP_uc003tgi.1_RNA|TARP_uc003tgg.1_RNA			A2JGV3	A2JGV3_HUMAN	Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds.	Error:Variant_position_missing_in_A2JGV3_after_alignment											0						TATCTTAATAACATCAGGGAA	0.418													T	38305159	A	T	38305159	3	4	20	1	0	0	0	0	1	0	0	0	15555	40	2	5	411	5	TARP	7	38305159	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2110389	38305159	120833504	752	18423											
AMPH	273	broad.mit.edu	37	chr7	38505777	38505777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcgtcatgactcaccaccGcaatttccttatgaaacttg	5	12	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:38505777G>A	uc003tgu.2	-	8	731	c.662C>T	c.(661-663)GCG>GTG	p.A221V	AMPH_uc003tgv.2_Missense_Mutation_p.A221V|AMPH_uc003tgt.2_5'Flank	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	221	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						ACTCACCACCGCAATTTCCTT	0.353													A	38505777	G	A	38505777	3	1	20	1	0	0	0	0	1	0	0	0	588	1087	38	1	1481	1	AMPH	7	38505777	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	200618	38505777	120632886	753	18424											
C7orf10	79783	broad.mit.edu	37	chr7	40900046	40900046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcggggagctgctcagcGctggagtggtggaccaacat	15	11	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:40900046G>A	uc003thn.1	+	14	1330	c.1285G>A	c.(1285-1287)GCT>ACT	p.A429T	C7orf10_uc003thm.1_Missense_Mutation_p.A425T|C7orf10_uc003tho.1_Missense_Mutation_p.A381T|C7orf10_uc003thp.1_RNA	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN	dermal papilla derived protein 13	436							transferase activity			ovary(2)	2						GCTGCTCAGCGCTGGAGTGGT	0.572													A	40900046	G	A	40900046	3	1	20	1	0	0	0	0	1	0	0	0	2376	1087	38	1	1331	1	C7orf10	7	40900046	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2394269	40900046	118238617	754	18425											
GLI3	2737	broad.mit.edu	37	chr7	42005569	42005569	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctccgcggacgtggccatCgccggggggttgcagctgct	16	13	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:42005569C>T	uc011kbh.1	-	15	3193	c.3102G>A	c.(3100-3102)GCG>GCA	p.A1034A	GLI3_uc011kbg.1_Silent_p.A975A	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1034					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						ACGTGGCCATCGCCGGGGGGT	0.701									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42005569	C	T	42005569	2	4	20	1	0	0	0	0	0	0	0	1	6439	871	31	1		1	GLI3	7	42005569	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1105523	42005569	117133094	755	18426											
GLI3	2737	broad.mit.edu	37	chr7	42007444	42007444	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggtcagaggaagctcgagCccactgttggaatagttgct	13	9	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:42007444C>T	uc011kbh.1	-	14	2272	c.2181G>A	c.(2179-2181)GGG>GGA	p.G727G	GLI3_uc011kbg.1_Silent_p.G668G	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	727			G -> R (in PAPA1 and PAPB).		negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GAAGCTCGAGCCCACTGTTGG	0.537									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42007444	C	T	42007444	2	4	20	1	0	0	0	0	0	0	0	1	6439	726	26	2		2	GLI3	7	42007444	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1875	42007444	117131219	756	18427											
PGAM2	5224	broad.mit.edu	37	chr7	44105024	44105024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccccgcttggcctcctcGgtccccttttcactcagctc	7	20	2	0	rs147733064		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:44105024G>A	uc003tjs.2	-	1	140	c.105C>T	c.(103-105)ACC>ACT	p.T35T		NM_000290	NP_000281	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2	35					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity				0						TGGCCTCCTCGGTCCCCTTTT	0.607													A	44105024	G	A	44105024	2	1	20	1	0	0	0	0	0	0	0	1	11774	1103	39	1		1	PGAM2	7	44105024	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2097580	44105024	115033639	757	18428											
NPC1L1	29881	broad.mit.edu	37	chr7	44553055	44553055	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctggctgtatcagaactgCcgcccattgttgggcaagaa	11	11	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:44553055C>T	uc003tlb.2	-	20	4127	c.4071G>A	c.(4069-4071)CGG>CGA	p.R1357R	NPC1L1_uc003tlc.2_Silent_p.R1330R|NPC1L1_uc011kbw.1_Silent_p.R1284R|NPC1L1_uc003tla.2_3'UTR	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	1357	Cytoplasmic (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	ATCAGAACTGCCGCCCATTGT	0.537													T	44553055	C	T	44553055	2	4	20	1	0	0	0	0	0	0	0	1	10571	726	26	2		2	NPC1L1	7	44553055	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	448031	44553055	114585608	758	18429											
OGDH	4967	broad.mit.edu	37	chr7	44664027	44664027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattttcacaaaacagaccaGcagcagctaggacatttcaa	6	11	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:44664027G>A	uc003tln.2	+	2	194	c.85G>A	c.(85-87)GCA>ACA	p.A29T	OGDH_uc003tlm.2_Missense_Mutation_p.A29T|OGDH_uc011kbx.1_Missense_Mutation_p.A29T|OGDH_uc011kby.1_Missense_Mutation_p.A29T|OGDH_uc003tlp.2_Missense_Mutation_p.A29T|OGDH_uc011kbz.1_5'UTR	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	29					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	AAACAGACCAGCAGCAGCTAG	0.448													A	44664027	G	A	44664027	3	1	20	1	0	0	0	0	1	0	0	0	10839	971	34	2	87	2	OGDH	7	44664027	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	110972	44664027	114474636	759	18430											
OGDH	4967	broad.mit.edu	37	chr7	44715743	44715743	+	Frame_Shift_Del	DEL	A	A	-													actgtggcgacactgaagggAaaaaggtaaggcccagagag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:44715742_44715742GA>G	uc003tln.3	+	8	1359	c.1200_1200GA>G	c.(1198-1200)gggfs	p.G400fs	OGDH_uc003tlm.3_Frame_Shift_Del_p.G400fs|OGDH_uc011kbx.2_Frame_Shift_Del_p.G396fs|OGDH_uc011kby.2_Frame_Shift_Del_p.G250fs|OGDH_uc003tlp.3_Frame_Shift_Del_p.G411fs|OGDH_uc011kbz.2_Frame_Shift_Del_p.G195fs|OGDH_uc003tlo.1_Frame_Shift_Del_p.G233fs	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	400					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	ACACTGAAGGGAAAAAGGTAA	0.582													-	44715743	A	-	44715743	7	5	20	1	0	1	0	1	0	0	0	0	10839	247	9	0	1326	0	OGDH	7	44715743	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	51716	44715743	114422920	760	18431											
RAMP3	10268	broad.mit.edu	37	chr7	45216981	45216981	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccctgtgtgggaaggctttCgcagacatgatgggcaaggt	15	9	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:45216981C>T	uc003tnb.2	+	2	193	c.132C>T	c.(130-132)TTC>TTT	p.F44F	RAMP3_uc003tnc.2_Silent_p.F12F	NM_005856	NP_005847	O60896	RAMP3_HUMAN	receptor activity modifying protein 3 precursor	44	Extracellular (Potential).				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity				0					Pramlintide(DB01278)	GGAAGGCTTTCGCAGACATGA	0.592													T	45216981	C	T	45216981	2	4	20	1	0	0	0	0	0	0	0	1	13023	883	31	1		1	RAMP3	7	45216981	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	501238	45216981	113921682	761	18432											
ADCY1	107	broad.mit.edu	37	chr7	45701761	45701761	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgcactgccggaaaatgtTcaaggccgagatccccttct	9	13	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:45701761T>C	uc003tne.3	+	8	1571	c.1553T>C	c.(1552-1554)TTC>TCC	p.F518S	ADCY1_uc003tnd.2_Missense_Mutation_p.F293S	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	518	Interaction with calmodulin (By similarity).|Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CGGAAAATGTTCAAGGCCGAG	0.537													C	45701761	T	C	45701761	3	2	20	1	0	0	0	0	1	0	0	0	292	1783	62	3	1583	3	ADCY1	7	45701761	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	484780	45701761	113436902	762	18433											
ABCA13	154664	broad.mit.edu	37	chr7	48682920	48682920	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtcaaagtttggctctgTaaggaagcaaatcaacattg	9	7	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:48682920T>C	uc003toq.2	+	60	14899	c.14874T>C	c.(14872-14874)TGT>TGC	p.C4958C	ABCA13_uc010kys.1_Silent_p.C2033C|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Silent_p.C688C	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4958					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TTTGGCTCTGTAAGGAAGCAA	0.318													C	48682920	T	C	48682920	2	2	20	1	0	0	0	0	0	0	0	1	31	1644	57	3		3	ABCA13	7	48682920	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2981159	48682920	110455743	763	18434											
COBL	23242	broad.mit.edu	37	chr7	51096403	51096403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggattctgcgtctgcgtgGgcacaggggtggaggggggt	21	7	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:51096403G>A	uc003tpr.3	-	10	2575	c.2390C>T	c.(2389-2391)CCC>CTC	p.P797L	COBL_uc003tps.2_Missense_Mutation_p.P854L|COBL_uc011kcl.1_Missense_Mutation_p.P797L|COBL_uc003tpp.3_Missense_Mutation_p.P583L|COBL_uc003tpq.3_Missense_Mutation_p.P738L|COBL_uc003tpo.3_Missense_Mutation_p.P339L	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	797										skin(3)|ovary(2)	5	Glioma(55;0.08)					CGTCTGCGTGGGCACAGGGGT	0.612													A	51096403	G	A	51096403	3	1	20	1	0	0	0	0	1	0	0	0	3653	1232	43	4	1411	4	COBL	7	51096403	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2413483	51096403	108042260	764	18435											
LANCL2	55915	broad.mit.edu	37	chr7	55492954	55492956	+	In_Frame_Del	DEL	AGG	AGG	-													ttaatttgcccaggtctttaAggaggagaagtacttgaaag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:55492953_55492955AAGG>A	uc003tqp.3	+	6	1593_1595	c.1015_1017AAGG>A	c.(1015-1017)aag>A	p.K339del		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 2 (bacterial) (LANCL2), mRNA.	339					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|GTP binding|catalytic activity|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			CCAGGTCTTTAAGGAGGAGAAGT	0.448													-	55492956	AGG	-	55492954	7	5	20	1	0	1	0	1	0	0	0	0	8621	72	3	0	1042	0	LANCL2	7	55492954	In_Frame_Del	DEL	AGG	TCGA-BR-4362-01A-01D-1158-08	4396551	55492954	103645709	765	18436											
ZNF138	7697	broad.mit.edu	37	chr7	64275419	64275419	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actacagaaacctggttttcTtgggtgagaataacttcagt	9	7	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:64275419T>C	uc011kdp.1	+	2	303	c.127T>C	c.(127-129)TTG>CTG	p.L43L	ZNF138_uc003ttg.2_5'UTR|ZNF138_uc011kdq.1_Silent_p.L43L|ZNF138_uc003tth.2_Intron|ZNF138_uc010kzs.2_Silent_p.L37L	NM_001160183	NP_001153655	B4DFX2	B4DFX2_HUMAN	zinc finger protein 138 isoform 2	43					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding				0		Lung NSC(55;0.0795)|all_lung(88;0.18)				CCTGGTTTTCTTGGGTGAGAA	0.383													C	64275419	T	C	64275419	2	2	20	1	0	0	0	0	0	0	0	1	17724	1606	56	3		3	ZNF138	7	64275419	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	8782465	64275419	94863244	766	18437											
ZNF138	7697	broad.mit.edu	37	chr7	64291954	64291954	+	Frame_Shift_Del	DEL	A	A	-													tacagttaagaaaaggctgtAaaagtgtggatgagtgtaag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:64291953_64291953TA>T	uc011kdq.2	+	2	431	c.255_255TA>T	c.(253-255)tgtfs	p.C85fs	ZNF138_uc003ttg.3_Frame_Shift_Del_p.C54fs|ZNF138_uc003tth.3_Non-coding_Transcript|ZNF138_uc010kzs.3_Frame_Shift_Del_p.C79fs|ZNF138_uc011kdp.2_3'UTR	NM_006524	NP_006515	B4DP87	B4DP87_HUMAN	Homo sapiens zinc finger protein 138 (ZNF138), transcript variant 1, mRNA.	85					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				GAAAAGGCTGTAAAAGTGTGG	0.333													-	64291954	A	-	64291954	7	5	20	1	0	1	0	1	0	0	0	0	17724	363	13	0	489	0	ZNF138	7	64291954	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	16535	64291954	94846709	767	18438											
ZNF92	168374	broad.mit.edu	37	chr7	64863267	64863267	+	Frame_Shift_Del	DEL	T	T	-													ttttcagttatgtgttctcaTtttgcccaagatgtttggcc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:64863266_64863266AT>A	uc003ttz.3	+	3	382	c.239_239AT>A	c.(238-240)catfs	p.H80fs	ZNF92_uc003tua.3_Frame_Shift_Del_p.H11fs|ZNF92_uc010kzu.3_Frame_Shift_Del_p.H48fs|ZNF92_uc003tub.3_Frame_Shift_Del_p.H4fs|ZNF92_uc022afd.1_5'Flank	NM_152626	NP_009070	Q03936	ZNF92_HUMAN	Homo sapiens zinc finger protein 92 (ZNF92), transcript variant 2, mRNA.	80						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				ATGTGTTCTCATTTTGCCCAA	0.299													-	64863267	T	-	64863267	7	5	20	1	0	1	0	1	0	0	0	0	18198	1490	52	0	254	0	ZNF92	7	64863267	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	571313	64863267	94275396	768	18439											
AUTS2	26053	broad.mit.edu	37	chr7	69064858	69064858	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcccggcccagacccccGcggaggaagcggagagagtc	15	16	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:69064858G>A	uc003tvw.3	+	1	962	c.219G>A	c.(217-219)CCG>CCA	p.P73P	AUTS2_uc003tvv.3_Silent_p.P73P|AUTS2_uc003tvx.3_Silent_p.P73P	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	73										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCAGACCCCCGCGGAGGAAGC	0.562													A	69064858	G	A	69064858	2	1	20	1	0	0	0	0	0	0	0	1	1225	1074	38	1		1	AUTS2	7	69064858	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	4201591	69064858	90073805	769	18440											
AUTS2	26053	broad.mit.edu	37	chr7	70254984	70254984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacggccacgaggggcgcGccgcgggcgaagaggccaag	20	13	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:70254984G>A	uc003tvw.3	+	19	3525	c.2782G>A	c.(2782-2784)GCC>ACC	p.A928T	AUTS2_uc003tvx.3_Missense_Mutation_p.A904T|AUTS2_uc011keg.1_Missense_Mutation_p.A380T	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	928										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CGAGGGGCGCGCCGCGGGCGA	0.716													A	70254984	G	A	70254984	3	1	20	1	0	0	0	0	1	0	0	0	1225	1087	38	1	3001	1	AUTS2	7	70254984	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1190126	70254984	88883679	770	18441											
NSUN5	55695	broad.mit.edu	37	chr7	72722714	72722714	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggaagttgctggagtacAccaaccccttgatagagccc	10	13	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:72722714A>G	uc003txw.2	-	1	110	c.74T>C	c.(73-75)GTG>GCG	p.V25A	FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Missense_Mutation_p.V25A|NSUN5_uc003txx.2_Missense_Mutation_p.V25A|NSUN5_uc011kev.1_Missense_Mutation_p.V25A	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	NOL1/NOP2/Sun domain family, member 5 isoform 2	25							methyltransferase activity				0		Lung NSC(55;0.163)				GCTGGAGTACACCAACCCCTT	0.677													G	72722714	A	G	72722714	3	3	20	1	0	0	0	0	1	0	0	0	10681	159	6	3	1387	3	NSUN5	7	72722714	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2467730	72722714	86415949	771	18442											
WBSCR22	114049	broad.mit.edu	37	chr7	73107983	73107983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcttgttttctgggccttCgacctttataccagaggtga	10	10	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:73107983C>T	uc003tyt.2	+	9	684	c.626C>T	c.(625-627)TCG>TTG	p.S209L	WBSCR22_uc010lbi.1_RNA|WBSCR22_uc003tyu.2_Missense_Mutation_p.S209L|WBSCR22_uc003tyv.2_Missense_Mutation_p.S171L|WBSCR22_uc003tyw.1_Missense_Mutation_p.S72L	NM_017528	NP_059998	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	209						nucleus	methyltransferase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				TCTGGGCCTTCGACCTTTATA	0.562													T	73107983	C	T	73107983	3	4	20	1	0	0	0	0	1	0	0	0	17262	893	31	1	660	1	WBSCR22	7	73107983	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	385269	73107983	86030680	772	18443											
LIMK1	3984	broad.mit.edu	37	chr7	73535232	73535232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactggacagatcatcgggcGggtgaacgcagaccctgact	13	11	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:73535232G>A	uc003uaa.1	+	15	1799	c.1634G>A	c.(1633-1635)CGG>CAG	p.R545Q	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.R511Q	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	545	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			stomach(2)|ovary(1)	3		Lung NSC(55;0.137)				ATCATCGGGCGGGTGAACGCA	0.647													A	73535232	G	A	73535232	3	1	20	1	0	0	0	0	1	0	0	0	8801	1116	39	1	1692	1	LIMK1	7	73535232	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	427249	73535232	85603431	773	18444											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73954296	73954296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgggatggagatgctgaCaggtaagaaatggacctggg	16	4	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:73954296C>T	uc003uaq.2	+	14	2009	c.1616C>T	c.(1615-1617)ACA>ATA	p.T539I	GTF2IRD1_uc010lbq.2_Missense_Mutation_p.T571I|GTF2IRD1_uc003uap.2_Missense_Mutation_p.T539I|GTF2IRD1_uc003uar.1_Missense_Mutation_p.T539I	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	539						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						GAGATGCTGACAGGTAAGAAA	0.572													T	73954296	C	T	73954296	3	4	20	1	0	0	0	0	1	0	0	0	6868	478	17	4	1666	4	GTF2IRD1	7	73954296	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	419064	73954296	85184367	774	18445											
HIP1	3092	broad.mit.edu	37	chr7	75186991	75186991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcactgatgcgctccaaCgaatcctccagctctttttt	7	13	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:75186991C>T	uc003uds.1	-	16	1589	c.1548G>A	c.(1546-1548)TCG>TCA	p.S516S	HIP1_uc011kfz.1_Silent_p.S393S	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	516	Potential.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						TGCGCTCCAACGAATCCTCCA	0.557			T	PDGFRB	CMML								T	75186991	C	T	75186991	2	4	20	1	0	0	0	0	0	0	0	1	7114	523	19	1		1	HIP1	7	75186991	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1232695	75186991	83951672	775	18446											
POR	5447	broad.mit.edu	37	chr7	75608819	75608819	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacggggactgcagaggaGtttgccaaccgcctgtccaa	13	12	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:75608819G>A	uc003udy.2	+	4	370	c.288G>A	c.(286-288)GAG>GAA	p.E96E	POR_uc011kgb.1_RNA|POR_uc011kgc.1_5'Flank|POR_uc011kgd.1_5'Flank|POR_uc011kge.1_5'Flank	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	93	Flavodoxin-like.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	CTGCAGAGGAGTTTGCCAACC	0.627													A	75608819	G	A	75608819	2	1	20	1	0	0	0	0	0	0	0	1	12257	1020	36	4		4	POR	7	75608819	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	421828	75608819	83529844	776	18447											
STYXL1	51657	broad.mit.edu	37	chr7	75625886	75625886	+	Frame_Shift_Del	DEL	T	T	-													cccgatttggacacatgttgTttttgcacttcttgacatag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:75625885_75625885GT>G	uc003uel.3	-	8	1186	c.843_843AC>C	c.(841-843)aacfs	p.N281fs	STYXL1_uc003uef.3_Frame_Shift_Del_p.N71fs|STYXL1_uc011kgg.2_Frame_Shift_Del_p.Q96fs|STYXL1_uc003ueh.3_Frame_Shift_Del_p.N143fs|STYXL1_uc011kgf.2_Frame_Shift_Del_p.Q106fs|STYXL1_uc003uek.4_Frame_Shift_Del_p.N185fs|STYXL1_uc003uem.3_Frame_Shift_Del_p.N281fs|TMEM120A_uc003ued.3_5'Flank|TMEM120A_uc003uec.2_5'Flank|TMEM120A_uc022agl.1_5'Flank	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	Homo sapiens serine/threonine/tyrosine interacting-like 1 (STYXL1), mRNA.	281	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						GACACATGTTGTTTTTGCACT	0.478													-	75625886	T	-	75625886	7	5	20	1	0	1	0	1	0	0	0	0	15360	1725	60	0	103	0	STYXL1	7	75625886	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	17067	75625886	83512777	777	18448											
SRCRB4D	136853	broad.mit.edu	37	chr7	76019658	76019658	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagagctctacacgtccctcGcatcggtgggctccattgac	10	14	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:76019658G>A	uc003ufb.2	-	11	1794	c.1446C>T	c.(1444-1446)TGC>TGT	p.C482C	SRCRB4D_uc003ufa.2_5'UTR	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain	482	SRCR 4.					extracellular region|membrane	scavenger receptor activity			pancreas(1)	1						CACGTCCCTCGCATCGGTGGG	0.647													A	76019658	G	A	76019658	2	1	20	1	0	0	0	0	0	0	0	1	15136	1079	38	1		1	SRCRB4D	7	76019658	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	393772	76019658	83119005	778	18449											
MAGI2	9863	broad.mit.edu	37	chr7	77885613	77885613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagtgcagagaatgaggcGgccgatctgttatatctgga	15	6	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:77885613G>A	uc003ugx.2	-	10	1948	c.1694C>T	c.(1693-1695)CCG>CTG	p.P565L	MAGI2_uc003ugy.2_Missense_Mutation_p.P565L|MAGI2_uc010ldx.1_Missense_Mutation_p.P174L|MAGI2_uc010ldy.1_Missense_Mutation_p.P174L|MAGI2_uc011kgr.1_Missense_Mutation_p.P397L|MAGI2_uc011kgs.1_Missense_Mutation_p.P402L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	565						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGAATGAGGCGGCCGATCTGT	0.507													A	77885613	G	A	77885613	3	1	20	1	0	0	0	0	1	0	0	0	9191	1116	39	1	2725	1	MAGI2	7	77885613	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1865955	77885613	81253050	779	18450											
CD36	948	broad.mit.edu	37	chr7	80276128	80276128	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggctgtgtttggaggTattctaatgccagttggaga	14	6	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:80276128T>C	uc003uhc.2	+	6	756	c.72T>C	c.(70-72)GGT>GGC	p.G24G	CD36_uc003uhd.3_Silent_p.G24G|CD36_uc011kgv.1_Intron|CD36_uc003uhe.3_Silent_p.G24G|CD36_uc003uhf.3_Silent_p.G24G|CD36_uc003uhg.3_Silent_p.G24G|CD36_uc003uhh.3_Silent_p.G24G	NM_001127444	NP_001120916	P16671	CD36_HUMAN	CD36 antigen	24	Helical; (Potential).				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			ovary(1)	1						TGTTTGGAGGTATTCTAATGC	0.438													C	80276128	T	C	80276128	2	2	20	1	0	0	0	0	0	0	0	1	3007	1625	57	3		3	CD36	7	80276128	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2390515	80276128	78862535	780	18451											
HGF	3082	broad.mit.edu	37	chr7	81340814	81340814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacggtctaaattgactattGtaggtgtggtatcaccttca	9	7	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:81340814G>A	uc003uhl.2	-	12	1592	c.1427C>T	c.(1426-1428)ACA>ATA	p.T476I	HGF_uc003uhm.2_Missense_Mutation_p.T471I	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	476					epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						ATTGACTATTGTAGGTGTGGT	0.259													A	81340814	G	A	81340814	3	1	20	1	0	0	0	0	1	0	0	0	7085	1377	48	4	787	4	HGF	7	81340814	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1064686	81340814	77797849	781	18452											
HGF	3082	broad.mit.edu	37	chr7	81372669	81372669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatttgaccttcacttacCgcatgttttaattgcacagt	5	9	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:81372669C>T	uc003uhl.2	-	7	1030	c.865G>A	c.(865-867)GCT>ACT	p.A289T	HGF_uc003uhm.2_Missense_Mutation_p.A284T|HGF_uc003uhn.1_Missense_Mutation_p.E289K|HGF_uc003uho.1_Missense_Mutation_p.E284K	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	289					epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						CTTCACTTACCGCATGTTTTA	0.448													T	81372669	C	T	81372669	3	4	20	1	0	0	0	0	1	0	0	0	7085	666	23	1	1381	1	HGF	7	81372669	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	31855	81372669	77765994	782	18453											
PCLO	27445	broad.mit.edu	37	chr7	82581873	82581873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttgcactagctgtgcatGtgacaaaggtcactgtctca	9	10	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:82581873G>A	uc003uhx.2	-	5	8685	c.8396C>T	c.(8395-8397)ACA>ATA	p.T2799I	PCLO_uc003uhv.2_Missense_Mutation_p.T2799I|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2730					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AGCTGTGCATGTGACAAAGGT	0.433													A	82581873	G	A	82581873	3	1	20	1	0	0	0	0	1	0	0	0	11583	1377	48	4	7133	4	PCLO	7	82581873	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1209204	82581873	76556790	783	18454											
PCLO	27445	broad.mit.edu	37	chr7	82763950	82763950	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccttgtgaagtaggtggCtgtgaaggggcaggggcttg	20	6	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:82763950C>T	uc003uhx.2	-	3	3205	c.2916G>A	c.(2914-2916)CAG>CAA	p.Q972Q	PCLO_uc003uhv.2_Silent_p.Q972Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	918	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AAGTAGGTGGCTGTGAAGGGG	0.522													T	82763950	C	T	82763950	2	4	20	1	0	0	0	0	0	0	0	1	11583	796	28	2		2	PCLO	7	82763950	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	182077	82763950	76374713	784	18455											
PCLO	27445	broad.mit.edu	37	chr7	82764620	82764620	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttggtttatcatcagcaAcaggggccttgtcctgctca	10	11	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:82764620A>C	uc003uhx.2	-	3	2535	c.2246T>G	c.(2245-2247)GTT>GGT	p.V749G	PCLO_uc003uhv.2_Missense_Mutation_p.V749G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	695	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ATCATCAGCAACAGGGGCCTT	0.507													C	82764620	A	C	82764620	3	2	20	1	0	0	0	0	1	0	0	0	11583	43	2	5	13291	5	PCLO	7	82764620	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	670	82764620	76374043	785	18456											
GRM3	2913	broad.mit.edu	37	chr7	86468223	86468223	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttggagatggaatggggCgatacaacgtgttcaatttc	12	6	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:86468223C>T	uc003uid.2	+	4	2492	c.1393C>T	c.(1393-1395)CGA>TGA	p.R465*	GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Nonsense_Mutation_p.R337*|GRM3_uc010leh.2_Nonsense_Mutation_p.R57*	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	465	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGGAATGGGGCGATACAACGT	0.383													T	86468223	C	T	86468223	4	4	20	1	0	0	0	0	0	1	0	0	6798	760	27	1	1403	1	GRM3	7	86468223	Nonsense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	3703603	86468223	72670440	786	18457											
CROT	54677	broad.mit.edu	37	chr7	86991046	86991046	+	Splice_Site	DEL	A	A	-													aaatcctttttttaatagagAaaaagtgcctgttcataaag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:86991045_86991045GA>G	uc003uiu.3	+	7	752	c.507_splice	c.e7-1	p.K169_splice	CROT_uc003uit.3_Splice_Site_p.K141_splice	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	141					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TTTTAATAGAGAAAAAGTGCC	0.323													-	86991046	A	-	86991046	8	5	20	1	0	1	0	1	0	0	1	0	3894	246	9	0	527	0	CROT	7	86991046	Splice_Site	DEL	A	TCGA-BR-4362-01A-01D-1158-08	522823	86991046	72147617	787	18458											
ZNF804B	219578	broad.mit.edu	37	chr7	88847534	88847534	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaaacttttactgtgaAttatgtgacaagcagtatca	8	6	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:88847534A>C	uc011khi.1	+	2	712	c.174A>C	c.(172-174)GAA>GAC	p.E58D		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	58	C2H2-type.					intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTACTGTGAATTATGTGACA	0.363										HNSCC(36;0.09)			C	88847534	A	C	88847534	3	2	20	1	0	0	0	0	1	0	0	0	18168	98	4	5	180	5	ZNF804B	7	88847534	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1856488	88847534	70291129	788	18459											
ZNF804B	219578	broad.mit.edu	37	chr7	88956722	88956722	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctaagtcatggaaagatgAgaaaaaacaagaaaaagcac	8	5	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:88956722A>C	uc011khi.1	+	3	852	c.314A>C	c.(313-315)GAG>GCG	p.E105A		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	105						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGGAAAGATGAGAAAAAACAA	0.358										HNSCC(36;0.09)			C	88956722	A	C	88956722	3	2	20	1	0	0	0	0	1	0	0	0	18168	304	11	5	324	5	ZNF804B	7	88956722	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	109188	88956722	70181941	789	18460											
GTPBP10	85865	broad.mit.edu	37	chr7	90014224	90014225	+	Frame_Shift_Ins	INS	-	-	A													gattttctgcatttatttgaINSaaaaaacatgattccagaga							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:90014223_90014224G>GA	uc003ukm.2	+	9	996_997	c.919_920G>GA	c.(919-921)gaafs	p.E307fs	GTPBP10_uc003ukn.2_Frame_Shift_Ins_p.E228fs|GTPBP10_uc003uko.2_Frame_Shift_Ins_p.E117fs|CLDN12_uc003ukp.3_5'UTR|CLDN12_uc003ukq.3_5'UTR	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN	Homo sapiens GTP-binding protein 10 (putative) (GTPBP10), transcript variant 2, mRNA.	307					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						GCATTTATTTGAAAAAAACATG	0.327													A	90014225	-	A	90014224	7	5	20	1	0	1	1	0	0	0	0	0	6879	246	9	0	958	0	GTPBP10	7	90014224	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	1057502	90014224	69124439	790	18461											
CDK14	5218	broad.mit.edu	37	chr7	90708770	90708770	+	Frame_Shift_Del	DEL	A	A	-													gctttaccctgtacagctctAaaaaccttagacaagcatgg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:90708769_90708769TA>T	uc003uky.2	+	11	1350	c.1128_1128TA>T	c.(1126-1128)tctfs	p.S376fs	CDK14_uc003ukz.1_Frame_Shift_Del_p.S358fs|CDK14_uc010les.1_Frame_Shift_Del_p.S330fs|CDK14_uc011khl.1_Frame_Shift_Del_p.S247fs	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	376	Protein kinase.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TGTACAGCTCTAAAAACCTTA	0.279													-	90708770	A	-	90708770	7	5	20	1	0	1	0	1	0	0	0	0	3130	363	13	0	1117	0	CDK14	7	90708770	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	694546	90708770	68429893	791	18462											
AKAP9	10142	broad.mit.edu	37	chr7	91724394	91724394	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttaatgacacattagcaagTgaacagaaaaaatcaagaga	7	6	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:91724394T>C	uc003ulg.2	+	40	9861	c.9636T>C	c.(9634-9636)AGT>AGC	p.S3212S	AKAP9_uc003ulf.2_Silent_p.S3204S|AKAP9_uc003uli.2_Silent_p.S2835S|AKAP9_uc003ulj.2_Silent_p.S982S|AKAP9_uc003ull.2_Silent_p.S108S	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3216	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CATTAGCAAGTGAACAGAAAA	0.388			T	BRAF	papillary thyroid								C	91724394	T	C	91724394	2	2	20	1	0	0	0	0	0	0	0	1	459	1693	59	3		3	AKAP9	7	91724394	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1015624	91724394	67414269	792	18463											
AKAP9	10142	broad.mit.edu	37	chr7	91732039	91732039	+	Frame_Shift_Del	DEL	G	G	-													ttggccctgcttgcccggatGggggggcagccagctttcac							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:91732038_91732038TG>T	uc003ulg.3	+	45	11453	c.11228_11228TG>T	c.(11227-11229)atgfs	p.M3743fs	AKAP9_uc003ulf.3_Frame_Shift_Del_p.M3735fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.M3366fs|AKAP9_uc003ulj.3_Frame_Shift_Del_p.M1513fs|AKAP9_uc003ull.3_Frame_Shift_Del_p.M639fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3747					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAG	0.537			T	BRAF	papillary thyroid								-	91732039	G	-	91732039	7	5	20	1	0	1	0	1	0	0	0	0	459	1348	47	0	11411	0	AKAP9	7	91732039	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	7645	91732039	67406624	793	18464											
SAMD9L	219285	broad.mit.edu	37	chr7	92763746	92763746	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctctgccataaatgtggTtctagaggtttatatgtctc	8	8	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:92763746T>G	uc003umh.1	-	5	2755	c.1539A>C	c.(1537-1539)GAA>GAC	p.E513D	SAMD9L_uc003umj.1_Missense_Mutation_p.E513D|SAMD9L_uc003umi.1_Missense_Mutation_p.E513D|SAMD9L_uc010lfb.1_Missense_Mutation_p.E513D|SAMD9L_uc003umk.1_Missense_Mutation_p.E513D|SAMD9L_uc010lfc.1_Missense_Mutation_p.E513D|SAMD9L_uc010lfd.1_Missense_Mutation_p.E513D|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	513										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATAAATGTGGTTCTAGAGGTT	0.378													G	92763746	T	G	92763746	3	3	20	1	0	0	0	0	1	0	0	0	13827	1722	60	5	3219	5	SAMD9L	7	92763746	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1031707	92763746	66374917	794	18465											
HEPACAM2	253012	broad.mit.edu	37	chr7	92826814	92826814	+	Frame_Shift_Del	DEL	T	T	-													ctacctttgtagggttgataTtttttccataggaagagaag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:92826813_92826813AT>A	uc011khy.2	-	5	1215	c.1192_1192AT>T	c.(1192-1194)tatfs	p.Y398fs	HEPACAM2_uc003uml.3_Frame_Shift_Del_p.Y363fs|HEPACAM2_uc010lff.3_Frame_Shift_Del_p.Y363fs|HEPACAM2_uc003umm.3_Frame_Shift_Del_p.Y375fs	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	375						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TAGGGTTGATATTTTTTCCAT	0.294													-	92826814	T	-	92826814	7	5	20	1	0	1	0	1	0	0	0	0	7053	1490	52	0	290	0	HEPACAM2	7	92826814	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	63068	92826814	66311849	795	18466											
CALCR	799	broad.mit.edu	37	chr7	93055810	93055810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccgcagcagcggctgcaGcgcgagcagagcggttggag	17	13	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:93055810G>A	uc003umv.1	-	15	1646	c.1385C>T	c.(1384-1386)GCT>GTT	p.A462V	CALCR_uc011kia.1_Missense_Mutation_p.A242V|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.A428V|CALCR_uc003umw.2_Missense_Mutation_p.A428V	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor isoform 2 precursor	444	Poly-Ala.|Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	p.I462I(1)		ovary(3)|lung(3)|skin(2)|pancreas(1)	9	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	AGCGGCTGCAGCGCGAGCAGA	0.597													A	93055810	G	A	93055810	3	1	20	1	0	0	0	0	1	0	0	0	2579	971	34	2	145	2	CALCR	7	93055810	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	228996	93055810	66082853	796	18467											
PON3	5446	broad.mit.edu	37	chr7	94991695	94991695	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgatcctggagggtcctcAgggttatagttcagtagctt	12	8	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:94991695A>G	uc003unt.2	-	8	910	c.885T>C	c.(883-885)CCT>CCC	p.P295P	PON1_uc011kih.1_Intron	NM_000940	NP_000931	Q15166	PON3_HUMAN	paraoxonase 3	295					aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus	extracellular space	aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity			ovary(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			GAGGGTCCTCAGGGTTATAGT	0.468													G	94991695	A	G	94991695	2	3	20	1	0	0	0	0	0	0	0	1	12250	175	7	3		3	PON3	7	94991695	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1935885	94991695	64146968	797	18468											
SMURF1	57154	broad.mit.edu	37	chr7	98649829	98649829	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggatacattctctcaccGtagccttcgggcagttccgg	11	13	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:98649829G>A	uc003upu.1	-	7	1040	c.720C>T	c.(718-720)TAC>TAT	p.Y240Y	SMURF1_uc003upv.1_Silent_p.Y240Y|SMURF1_uc003upt.2_Silent_p.Y240Y	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	240	WW 1.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TTCTCTCACCGTAGCCTTCGG	0.463													A	98649829	G	A	98649829	2	1	20	1	0	0	0	0	0	0	0	1	14819	1159	40	1		1	SMURF1	7	98649829	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3658134	98649829	60488834	798	18469											
CYP3A4	1576	broad.mit.edu	37	chr7	99361615	99361615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataaagataattgattgggCcacgagctccagatcggaca	10	8	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:99361615C>T	uc003urv.1	-	10	993	c.889G>A	c.(889-891)GCC>ACC	p.A297T	CYP3A4_uc003urw.1_Missense_Mutation_p.A296T|CYP3A4_uc011kiz.1_Missense_Mutation_p.A256T|CYP3A4_uc011kja.1_Missense_Mutation_p.A248T|CYP3A4_uc011kjb.1_Missense_Mutation_p.A147T	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A,	297					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			central_nervous_system(3)|ovary(1)	4	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	ATTGATTGGGCCACGAGCTCC	0.428													T	99361615	C	T	99361615	3	4	20	1	0	0	0	0	1	0	0	0	4178	739	26	2	638	2	CYP3A4	7	99361615	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	711786	99361615	59777048	799	18470											
OR2AE1	81392	broad.mit.edu	37	chr7	99474203	99474204	+	Frame_Shift_Ins	INS	-	-	C													attagggagttcacggatgcINSccccaaccatgacatgacag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:99474202_99474203G>GC	uc003usc.1	-	0	454_455	c.454_455C>GC	c.(454-456)gcafs	p.A152fs		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AE, member 1 (OR2AE1), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GTTCACGGATGCCCCCAACCAT	0.515													C	99474204	-	C	99474203	7	5	20	1	0	1	1	0	0	0	0	0	10983	739	26	0	521	0	OR2AE1	7	99474203	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	112588	99474203	59664460	800	18471											
ZKSCAN1	7586	broad.mit.edu	37	chr7	99621904	99621904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacttcaaacattcgtctcGgaaaccccgcctcttacagt	5	16	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:99621904G>A	uc003usk.1	+	3	773	c.554G>A	c.(553-555)CGG>CAG	p.R185Q	ZKSCAN1_uc003usj.2_Missense_Mutation_p.R184Q|ZKSCAN1_uc003usl.1_Missense_Mutation_p.R149Q|ZKSCAN1_uc003usm.1_Intron	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	zinc finger protein 36	185					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CATTCGTCTCGGAAACCCCGC	0.532													A	99621904	G	A	99621904	3	1	20	1	0	0	0	0	1	0	0	0	17683	1116	39	1	560	1	ZKSCAN1	7	99621904	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	147701	99621904	59516759	801	18472											
TAF6	6878	broad.mit.edu	37	chr7	99710462	99710462	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccttgacctttgcccttcAggggtccgtcttcctcctgg	9	17	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:99710462A>G	uc003uti.2	-	6	614	c.533T>C	c.(532-534)CTG>CCG	p.L178P	TAF6_uc003utg.2_Missense_Mutation_p.L100P|TAF6_uc003uth.2_Missense_Mutation_p.L235P|TAF6_uc003utk.2_Missense_Mutation_p.L178P|TAF6_uc011kji.1_Missense_Mutation_p.L215P|TAF6_uc003utj.2_Missense_Mutation_p.L168P|TAF6_uc003utl.2_Missense_Mutation_p.L178P|TAF6_uc003utm.2_Missense_Mutation_p.L178P|TAF6_uc003utn.1_RNA	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	178					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTTGCCCTTCAGGGGTCCGTC	0.597													G	99710462	A	G	99710462	3	3	20	1	0	0	0	0	1	0	0	0	15527	188	7	3	1540	3	TAF6	7	99710462	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	88558	99710462	59428201	802	18473											
GIGYF1	64599	broad.mit.edu	37	chr7	100279802	100279802	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggcaggaacggatatAatcgtggacatcataggggg	14	9	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:100279802A>G	uc003uwg.1	-	22	3827	c.2818T>C	c.(2818-2820)TAT>CAT	p.Y940H		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	940										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GAACGGATATAATCGTGGACA	0.547													G	100279802	A	G	100279802	3	3	20	1	0	0	0	0	1	0	0	0	6377	362	13	3	301	3	GIGYF1	7	100279802	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	569340	100279802	58858861	803	18474											
ZAN	7455	broad.mit.edu	37	chr7	100350272	100350272	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactcaccatccccatggaAaaacccaccatctccacaga	3	17	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:100350272A>G	uc003uwj.2	+	14	2709	c.2544A>G	c.(2542-2544)GAA>GAG	p.E848E	ZAN_uc003uwk.2_Silent_p.E848E|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	848	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCCCCATGGAAAAACCCACCA	0.502													G	100350272	A	G	100350272	2	3	20	1	0	0	0	0	0	0	0	1	17510	11	1	3		3	ZAN	7	100350272	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	70470	100350272	58788391	804	18475											
ZAN	7455	broad.mit.edu	37	chr7	100366269	100366269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttggatgacaacctgcGccccgacagaaagcttgcag	11	13	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:100366269G>A	uc003uwj.2	+	27	5243	c.5078G>A	c.(5077-5079)CGC>CAC	p.R1693H	ZAN_uc003uwk.2_Missense_Mutation_p.R1693H|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Missense_Mutation_p.R270H	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1693	Extracellular (Potential).|VWFD 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GACAACCTGCGCCCCGACAGA	0.607													A	100366269	G	A	100366269	3	1	20	1	0	0	0	0	1	0	0	0	17510	1087	38	1	5180	1	ZAN	7	100366269	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	15997	100366269	58772394	805	18476											
ACHE	43	broad.mit.edu	37	chr7	100491627	100491627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccggtggcagaaagcgaCggggtcccatgggtggctcc	17	12	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:100491627C>T	uc003uxd.2	-	1	383	c.227G>A	c.(226-228)CGT>CAT	p.R76H	ACHE_uc003uxe.2_Missense_Mutation_p.R76H|ACHE_uc003uxf.2_Missense_Mutation_p.R76H|ACHE_uc003uxg.2_Missense_Mutation_p.R76H|ACHE_uc003uxh.2_Missense_Mutation_p.R76H|ACHE_uc003uxi.2_Missense_Mutation_p.R76H|ACHE_uc003uxj.1_Missense_Mutation_p.R195H	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	76					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CAGAAAGCGACGGGGTCCCAT	0.642													T	100491627	C	T	100491627	3	4	20	1	0	0	0	0	1	0	0	0	141	536	19	1	1768	1	ACHE	7	100491627	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	125358	100491627	58647036	806	18477											
MOGAT3	346606	broad.mit.edu	37	chr7	100841524	100841524	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttctggagcgtaaggcAgtgctccccggggactgaat	15	11	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:100841524A>T	uc003uyc.2	-	5	783	c.616T>A	c.(616-618)TGC>AGC	p.C206S	MOGAT3_uc010lhr.2_Missense_Mutation_p.C206S	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	206					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			ovary(2)	2	Lung NSC(181;0.168)|all_lung(186;0.215)					AGCGTAAGGCAGTGCTCCCCG	0.652													T	100841524	A	T	100841524	3	4	20	1	0	0	0	0	1	0	0	0	9696	188	7	5	421	5	MOGAT3	7	100841524	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	349897	100841524	58297139	807	18478											
CUX1	1523	broad.mit.edu	37	chr7	101844765	101844765	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcgaccctgccttaaagCaggcaccactgtcccagagt	8	17	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:101844765C>T	uc003uyx.3	+	18	2226	c.2188C>T	c.(2188-2190)CAG>TAG	p.Q730*	CUX1_uc003uys.3_Nonsense_Mutation_p.Q741*|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	730					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						TGCCTTAAAGCAGGCACCACT	0.642													T	101844765	C	T	101844765	4	4	20	1	0	0	0	0	0	1	0	0	4064	711	25	2	2325	2	CUX1	7	101844765	Nonsense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1003241	101844765	57293898	808	18479											
DNAJC2	27000	broad.mit.edu	37	chr7	102967090	102967090	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtaggatctacactgtTaaatgctcgtcttttcactg	7	8	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:102967090T>A	uc003vbo.2	-	5	723	c.472A>T	c.(472-474)AAC>TAC	p.N158Y	PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_5'UTR|DNAJC2_uc010lix.2_Missense_Mutation_p.N158Y|DNAJC2_uc003vbp.2_5'UTR|DNAJC2_uc003vbq.1_RNA	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	158	J.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			kidney(1)	1						TCTACACTGTTAAATGCTCGT	0.343													A	102967090	T	A	102967090	3	1	20	1	0	0	0	0	1	0	0	0	4639	1754	61	5	1445	5	DNAJC2	7	102967090	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1122325	102967090	56171573	809	18480											
MLL5	55904	broad.mit.edu	37	chr7	104715218	104715218	+	Frame_Shift_Del	DEL	A	A	-													aagttaatgataaaagaaggAaaaaaagcggggagaaagaa							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:104715217_104715217GA>G	uc003vcm.3	+	7	1218	c.684_684GA>G	c.(682-684)aggfs	p.R228fs	MLL5_uc010lja.1_Frame_Shift_Del_p.R82fs|MLL5_uc010ljb.1_Frame_Shift_Del_p.R228fs|MLL5_uc003vcl.3_Frame_Shift_Del_p.R228fs|MLL5_uc010ljc.3_Frame_Shift_Del_p.R228fs|MLL5_uc003vco.1_Non-coding_Transcript|MLL5_uc010ljd.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	228					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						ATAAAAGAAGGAAAAAAAGCG	0.358													-	104715218	A	-	104715218	7	5	20	1	0	1	0	1	0	0	0	0	9624	247	9	0	707	0	MLL5	7	104715218	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	1748128	104715218	54423445	810	18481											
PUS7	54517	broad.mit.edu	37	chr7	105148864	105148864	+	Frame_Shift_Del	DEL	T	T	-													ctgcattccgacagcttctgTttttttgtctcttcaactgg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:105148863_105148863GT>G	uc010lji.3	-	0	105	c.97_97AC>C	c.(97-99)cagfs	p.Q33fs	PUS7_uc003vcx.3_Frame_Shift_Del_p.Q33fs|PUS7_uc003vcy.3_Frame_Shift_Del_p.Q33fs|PUS7_uc003vcz.1_Frame_Shift_Del_p.Q33fs	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.	33					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GACAGCTTCTGTTTTTTTGTC	0.483													-	105148864	T	-	105148864	7	5	20	1	0	1	0	1	0	0	0	0	12833	1722	60	0	1949	0	PUS7	7	105148864	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	433646	105148864	53989799	811	18482											
DUS4L	11062	broad.mit.edu	37	chr7	107216881	107216881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacaggagtttcatggattAcagtccatggaagaactgct	10	8	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:107216881A>G	uc003veh.2	+	7	883	c.550A>G	c.(550-552)ACA>GCA	p.T184A	DUS4L_uc003veg.2_Missense_Mutation_p.T63A|DUS4L_uc011klw.1_RNA|DUS4L_uc011klx.1_Missense_Mutation_p.T63A|DUS4L_uc010ljl.2_Missense_Mutation_p.T94A	NM_181581	NP_853559	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like	184					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity				0						TTCATGGATTACAGTCCATGG	0.348													G	107216881	A	G	107216881	3	3	20	1	0	0	0	0	1	0	0	0	4808	391	14	3	568	3	DUS4L	7	107216881	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2068017	107216881	51921782	812	18483											
BCAP29	55973	broad.mit.edu	37	chr7	107234461	107234461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgagaagagctccaccagCagacctgatgcctatgaaca	9	11	0	5			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:107234461C>T	uc003vej.2	+	4	594	c.255C>T	c.(253-255)AGC>AGT	p.S85S	BCAP29_uc011kly.1_5'UTR|BCAP29_uc011klz.1_Silent_p.S85S|BCAP29_uc011kma.1_Silent_p.S85S	NM_018844	NP_061332	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein BAP29 isoform	85	Lumenal (Potential).				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				large_intestine(1)|ovary(1)	2						GCTCCACCAGCAGACCTGATG	0.353													T	107234461	C	T	107234461	2	4	20	1	0	0	0	0	0	0	0	1	1346	709	25	2		2	BCAP29	7	107234461	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	17580	107234461	51904202	813	18484											
LAMB4	22798	broad.mit.edu	37	chr7	107692600	107692603	+	Frame_Shift_Del	DEL	AAGT	AAGT	-													atttcttcctgaaggtcttcAagtaagaggtctgcttcatt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:107692599_107692602CAAGT>C	uc010ljo.1	-	25	3940_3943	c.3856_3859ACTTG>G	c.(3856-3861)cttgaafs	p.L1286fs	LAMB4_uc003vey.2_Frame_Shift_Del_p.L1286fs|LAMB4_uc010ljp.1_Frame_Shift_Del_p.L255fs	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1286	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGAAGGTCTTCAAGTAAGAGGTCT	0.368													-	107692603	AAGT	-	107692600	7	5	20	1	0	1	0	1	0	0	0	0	8613	117	5	0	1463	0	LAMB4	7	107692600	Frame_Shift_Del	DEL	AAGT	TCGA-BR-4362-01A-01D-1158-08	458139	107692600	51446063	814	18485											
DNAJB9	4189	broad.mit.edu	37	chr7	108212352	108212352	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctgacaaaaataagagccCggatgctgaagcaaaattca	8	10	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:108212352C>A	uc003vfn.2	+	2	384	c.182C>A	c.(181-183)CCG>CAG	p.P61Q	THAP5_uc003vfl.2_5'Flank|THAP5_uc003vfm.2_5'Flank	NM_012328	NP_036460	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	61	J.				ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding				0						AATAAGAGCCCGGATGCTGAA	0.408													A	108212352	C	A	108212352	3	1	20	1	0	0	0	0	1	0	0	0	4627	652	23	5	184	5	DNAJB9	7	108212352	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	519752	108212352	50926311	815	18486											
LRRN3	54674	broad.mit.edu	37	chr7	110763303	110763303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctacaatttcacctggaGcctttattggcctacataat	5	10	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:110763303G>A	uc003vft.3	+	4	1521	c.475G>A	c.(475-477)GCC>ACC	p.A159T	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.A159T|LRRN3_uc003vfs.3_Missense_Mutation_p.A159T	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	159	LRR 4.|Extracellular (Potential).					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TTCACCTGGAGCCTTTATTGG	0.363													A	110763303	G	A	110763303	3	1	20	1	0	0	0	0	1	0	0	0	9036	971	34	2	477	2	LRRN3	7	110763303	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2550951	110763303	48375360	816	18487											
IFRD1	3475	broad.mit.edu	37	chr7	112108039	112108040	+	Frame_Shift_Ins	INS	-	-	T													tgcttttcttgtccaggactINSttttttatgaagacatggag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:112108038_112108039C>CT	uc003vgh.3	+	9	1379_1380	c.909_910C>CT	c.(907-912)gactttfs	p.D303fs	IFRD1_uc011kmn.2_Frame_Shift_Ins_p.D253fs|IFRD1_uc003vgj.3_Frame_Shift_Ins_p.D303fs|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Frame_Shift_Ins_p.D253fs|IFRD1_uc003vgk.3_Frame_Shift_Ins_p.D20fs	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	303					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TTGTCCAGGACTTTTTTTATGA	0.391													T	112108040	-	T	112108039	7	5	20	1	0	1	1	0	0	0	0	0	7553	1609	56	0	944	0	IFRD1	7	112108039	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	1344736	112108039	47030624	817	18488											
TMEM168	64418	broad.mit.edu	37	chr7	112423777	112423777	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggaaactgctcccaaaatCgctgttgcaagaagactaaa	8	10	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:112423777C>T	uc003vgn.2	-	2	1496	c.1104G>A	c.(1102-1104)GCG>GCA	p.A368A	TMEM168_uc010lju.2_Silent_p.A368A|TMEM168_uc011kmr.1_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	transmembrane protein 168	368	Helical; (Potential).					integral to membrane|transport vesicle				ovary(1)|central_nervous_system(1)	2						CTCCCAAAATCGCTGTTGCAA	0.393													T	112423777	C	T	112423777	2	4	20	1	0	0	0	0	0	0	0	1	16080	871	31	1		1	TMEM168	7	112423777	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	315738	112423777	46714886	818	18489											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519686	113519686	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgtatctgaatggaaatcTcttcgtaaacatcccaaatc	6	10	2	1	rs139605314		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:113519686T>G	uc010ljy.1	-	4	1492	c.1461A>C	c.(1459-1461)AGA>AGC	p.R487S		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	487					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						AATGGAAATCTCTTCGTAAAC	0.363													G	113519686	T	G	113519686	3	3	20	1	0	0	0	0	1	0	0	0	12371	1548	54	5	1911	5	PPP1R3A	7	113519686	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1095909	113519686	45618977	819	18490											
KCND2	3751	broad.mit.edu	37	chr7	119915142	119915142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgcctgcaggacgacgcGgataccgacaccgctgggga	16	13	0	0	rs116322872	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:119915142G>A	uc003vjj.1	+	1	1421	c.456G>A	c.(454-456)GCG>GCA	p.A152A		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	152	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					AGGACGACGCGGATACCGACA	0.632													A	119915142	G	A	119915142	2	1	20	1	0	0	0	0	0	0	0	1	8019	1103	39	1		1	KCND2	7	119915142	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	6395456	119915142	39223521	820	18491											
WNT16	51384	broad.mit.edu	37	chr7	120971879	120971879	+	Frame_Shift_Del	DEL	G	G	-													agcaagtgaaggctggcactGggggggctgctccgatgatg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:120971878_120971878TG>T	uc003vjw.3	+	2	750	c.493_493TG>T	c.(493-495)tggfs	p.W165fs	WNT16_uc003vjv.3_Frame_Shift_Del_p.W155fs|WNT16_uc010lkl.3_Intron	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA.	165					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	p.C168fs*4(2)|p.H164P(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					AGGCTGGCACTGGGGGGGCTG	0.537													-	120971879	G	-	120971879	7	5	20	1	0	1	0	1	0	0	0	0	17382	1357	47	0	573	0	WNT16	7	120971879	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	1056737	120971879	38166784	821	18492											
WNT16	51384	broad.mit.edu	37	chr7	120979236	120979236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaggcagagaatgcaaccGtacatcagagggtgcagatg	13	8	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:120979236G>A	uc003vjw.2	+	4	1192	c.935G>A	c.(934-936)CGT>CAT	p.R312H	WNT16_uc003vjv.2_Missense_Mutation_p.R302H|WNT16_uc010lkl.2_Missense_Mutation_p.R96H	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family,	312					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			lung(2)|ovary(2)|large_intestine(1)	5	all_neural(327;0.117)					GAATGCAACCGTACATCAGAG	0.493													A	120979236	G	A	120979236	3	1	20	1	0	0	0	0	1	0	0	0	17382	1145	40	1	1018	1	WNT16	7	120979236	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	7357	120979236	38159427	822	18493											
FEZF1	389549	broad.mit.edu	37	chr7	121942278	121942278	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgccgcacgtggggcaggTgaaaggcttcttgtcgttgt	15	9	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:121942278T>C	uc003vkd.2	-	4	1275	c.1201A>G	c.(1201-1203)ACC>GCC	p.T401A	FEZF1_uc003vkc.2_Missense_Mutation_p.T351A|uc010lko.1_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1 isoform 1	401	C2H2-type 6.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3						GTGGGGCAGGTGAAAGGCTTC	0.572													C	121942278	T	C	121942278	3	2	20	1	0	0	0	0	1	0	0	0	5825	1696	59	3	230	3	FEZF1	7	121942278	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	963042	121942278	37196385	823	18494											
GPR37	2861	broad.mit.edu	37	chr7	124404743	124404743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcccctctgcctgcagcCgggtcacggcccggggccgc	14	20	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:124404743C>T	uc003vli.2	-	1	939	c.288G>A	c.(286-288)CCG>CCA	p.P96P		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	96	Extracellular (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						TGCCTGCAGCCGGGTCACGGC	0.736													T	124404743	C	T	124404743	2	4	20	1	0	0	0	0	0	0	0	1	6691	639	23	1		1	GPR37	7	124404743	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2462465	124404743	34733920	824	18495											
PAX4	5078	broad.mit.edu	37	chr7	127255557	127255557	+	Frame_Shift_Del	DEL	C	C	-													ggccggccattcacaaagagCcccccaagctggttcatgct							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:127255556_127255556GC>G	uc010lld.1	-	0	225	c.19_19GC>C	c.(19-21)ctcfs	p.L7fs	PAX4_uc003vmf.2_5'UTR|PAX4_uc003vmg.1_Frame_Shift_Del_p.L7fs|PAX4_uc003vmh.3_5'UTR	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	15	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TTCACAAAGAGCCCCCCAAGC	0.612													-	127255557	C	-	127255557	7	5	20	1	0	1	0	1	0	0	0	0	11481	726	26	0	1049	0	PAX4	7	127255557	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	2850814	127255557	31883106	825	18496											
LRRC4	64101	broad.mit.edu	37	chr7	127669622	127669622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgttgaggtctcgaggtgCgtccatgatgaagggggcag	17	6	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:127669622C>T	uc003vmk.2	-	2	1209	c.1072G>A	c.(1072-1074)GCA>ACA	p.A358T	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	358	Extracellular (Potential).|Ig-like.					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		TCTCGAGGTGCGTCCATGATG	0.597													T	127669622	C	T	127669622	3	4	20	1	0	0	0	0	1	0	0	0	8997	768	27	1	893	1	LRRC4	7	127669622	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	414065	127669622	31469041	826	18497											
SND1	27044	broad.mit.edu	37	chr7	127729706	127729706	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaaggaagggctggtcAtggtggaggtgcgcaaggag	21	4	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:127729706A>G	uc003vmi.2	+	22	2810	c.2584A>G	c.(2584-2586)ATG>GTG	p.M862V	SND1_uc010lle.2_Missense_Mutation_p.M515V	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	862					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						AGGGCTGGTCATGGTGGAGGT	0.592													G	127729706	A	G	127729706	3	3	20	1	0	0	0	0	1	0	0	0	14844	217	8	3	2670	3	SND1	7	127729706	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	60084	127729706	31408957	827	18498											
TNPO3	23534	broad.mit.edu	37	chr7	128597313	128597313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgcaggagtgtgagctatCgaaacaacctggtgaagtct	13	7	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:128597313C>T	uc003vol.1	-	22	3142	c.2768G>A	c.(2767-2769)CGA>CAA	p.R923Q	TNPO3_uc010llx.1_Intron|TNPO3_uc003vom.1_Missense_Mutation_p.R857Q|TNPO3_uc010lly.1_Missense_Mutation_p.R957Q|TNPO3_uc010llz.1_Missense_Mutation_p.R859Q	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	transportin 3	923					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	p.R923*(1)		ovary(2)|skin(2)|lung(1)	5						TGTGAGCTATCGAAACAACCT	0.512													T	128597313	C	T	128597313	3	4	20	1	0	0	0	0	1	0	0	0	16334	884	31	1	7	1	TNPO3	7	128597313	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	867607	128597313	30541350	828	18499											
PLXNA4	91584	broad.mit.edu	37	chr7	131859616	131859616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttctatagtccaggaacGgaatcccggctccatccagg	10	12	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:131859616G>A	uc003vra.3	-	21	4167	c.3938C>T	c.(3937-3939)CCG>CTG	p.P1313L		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1313	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GTCCAGGAACGGAATCCCGGC	0.577													A	131859616	G	A	131859616	3	1	20	1	0	0	0	0	1	0	0	0	12122	1116	39	1	1794	1	PLXNA4	7	131859616	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3262303	131859616	27279047	829	18500											
PLXNA4	91584	broad.mit.edu	37	chr7	131895837	131895837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggttcttggccttcagCgtgataggcttgatcacctc	13	10	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:131895837C>T	uc003vra.3	-	10	2392	c.2163G>A	c.(2161-2163)ACG>ACA	p.T721T		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	721	Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						TGGCCTTCAGCGTGATAGGCT	0.652													T	131895837	C	T	131895837	2	4	20	1	0	0	0	0	0	0	0	1	12122	755	27	1		1	PLXNA4	7	131895837	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	36221	131895837	27242826	830	18501											
EXOC4	60412	broad.mit.edu	37	chr7	133580444	133580444	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caattcctcaacatggtgtgCgtgaagctccaggagtacaa	10	10	1	1	rs34995232		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:133580444C>T	uc003vrk.2	+	12	1862	c.1827C>T	c.(1825-1827)TGC>TGT	p.C609C	EXOC4_uc011kpo.1_Silent_p.C508C|EXOC4_uc003vrl.2_Silent_p.C219C|EXOC4_uc011kpp.1_Silent_p.C141C	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	609					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				ACATGGTGTGCGTGAAGCTCC	0.473													T	133580444	C	T	133580444	2	4	20	1	0	0	0	0	0	0	0	1	5306	776	27	1		1	EXOC4	7	133580444	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1684607	133580444	25558219	831	18502											
AKR1B1	231	broad.mit.edu	37	chr7	134132069	134132069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttaaagttctcagcaatgCgttctggtgtcacagacttg	9	10	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:134132069C>T	uc003vrp.1	-	8	880	c.806G>A	c.(805-807)CGC>CAC	p.R269H	AKR1B1_uc003vrq.1_RNA	NM_001628	NP_001619	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1	269	NADP.				C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			ovary(3)	3					NADH(DB00157)|Sulindac(DB00605)	CTCAGCAATGCGTTCTGGTGT	0.527													T	134132069	C	T	134132069	3	4	20	1	0	0	0	0	1	0	0	0	466	768	27	1	156	1	AKR1B1	7	134132069	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	551625	134132069	25006594	832	18503											
AKR1B1	231	broad.mit.edu	37	chr7	134132123	134132123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcctctgcatggggaacCggatcaggacctgtgagccc	13	12	2	1	rs145261078		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:134132123C>T	uc003vrp.1	-	8	826	c.752G>A	c.(751-753)CGG>CAG	p.R251Q	AKR1B1_uc003vrq.1_RNA	NM_001628	NP_001619	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1	251	NADP.				C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			ovary(3)	3					NADH(DB00157)|Sulindac(DB00605)	CATGGGGAACCGGATCAGGAC	0.358													T	134132123	C	T	134132123	3	4	20	1	0	0	0	0	1	0	0	0	466	652	23	1	210	1	AKR1B1	7	134132123	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	54	134132123	25006540	833	18504											
AKR1B1	231	broad.mit.edu	37	chr7	134136454	134136454	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagtcgatgtggcggtAcccgacgtcaatggccacct	13	13	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:134136454A>G	uc003vrp.1	-	2	192	c.118T>C	c.(118-120)TAC>CAC	p.Y40H	AKR1B1_uc003vrq.1_RNA	NM_001628	NP_001619	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1	40					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			ovary(3)	3					NADH(DB00157)|Sulindac(DB00605)	ATGTGGCGGTACCCGACGTCA	0.592													G	134136454	A	G	134136454	3	3	20	1	0	0	0	0	1	0	0	0	466	391	14	3	868	3	AKR1B1	7	134136454	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	4331	134136454	25002209	834	18505											
WDR91	29062	broad.mit.edu	37	chr7	134871808	134871809	+	Frame_Shift_Ins	INS	-	-	T													agagtcggcccctggggactINStgaacctgcttgtagccgct							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:134871807_134871808C>CT	uc003vsp.2	-	13	2057_2058	c.1995_1996G>AG	c.(1993-1998)caagtcfs	p.Q665fs	WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_Frame_Shift_Ins_p.Q254fs	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	Homo sapiens WD repeat domain 91 (WDR91), mRNA.	665										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CCCCTGGGGACTTGAACCTGCT	0.559													T	134871809	-	T	134871808	7	5	20	1	0	1	1	0	0	0	0	0	17335	1606	56	0	256	0	WDR91	7	134871808	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	735354	134871808	24266855	835	18506											
KIAA1549	57670	broad.mit.edu	37	chr7	138546182	138546182	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggatggtgtctgcacatcGgctgggaggtcaggatccga	17	8	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:138546182G>A	uc011kql.1	-	16	4999	c.4950C>T	c.(4948-4950)GCC>GCT	p.A1650A	KIAA1549_uc011kqi.1_Silent_p.A434A|KIAA1549_uc003vuk.3_Silent_p.A1600A|KIAA1549_uc011kqj.1_Silent_p.A1650A|KIAA1549_uc011kqk.1_Silent_p.A434A	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1650						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						TCTGCACATCGGCTGGGAGGT	0.542			O	BRAF	pilocytic astrocytoma								A	138546182	G	A	138546182	2	1	20	1	0	0	0	0	0	0	0	1	8244	1103	39	1		1	KIAA1549	7	138546182	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3674374	138546182	20592481	836	18507											
UBN2	254048	broad.mit.edu	37	chr7	138936727	138936727	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccccgtaaacaccggaAggatcggctacaagatttaa	9	10	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:138936727A>G	uc011kqr.1	+	3	587	c.587A>G	c.(586-588)AAG>AGG	p.K196R		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	196										ovary(1)|skin(1)	2						AAACACCGGAAGGATCGGCTA	0.368													G	138936727	A	G	138936727	3	3	20	1	0	0	0	0	1	0	0	0	16890	72	3	3	597	3	UBN2	7	138936727	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	390545	138936727	20201936	837	18508											
UBN2	254048	broad.mit.edu	37	chr7	138944059	138944059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagatgaagaagcggaagcGgaaagaggaaggggaaaagg	19	2	0	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:138944059G>A	uc011kqr.1	+	5	848	c.848G>A	c.(847-849)CGG>CAG	p.R283Q	UBN2_uc003vuv.2_Missense_Mutation_p.R6Q	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	283	Lys-rich.									ovary(1)|skin(1)	2						AAGCGGAAGCGGAAAGAGGAA	0.383													A	138944059	G	A	138944059	3	1	20	1	0	0	0	0	1	0	0	0	16890	1116	39	1	866	1	UBN2	7	138944059	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	7332	138944059	20194604	838	18509											
DENND2A	27147	broad.mit.edu	37	chr7	140227168	140227168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgagctggagagcagccCgatgaggaagggcgtcggcg	19	10	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:140227168C>T	uc010lnj.2	-	13	2600	c.2455G>A	c.(2455-2457)GGG>AGG	p.G819R	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.G819R|DENND2A_uc003vvw.2_Missense_Mutation_p.G819R	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	819	DENN.									ovary(3)|breast(1)	4	Melanoma(164;0.00956)					GAGAGCAGCCCGATGAGGAAG	0.672													T	140227168	C	T	140227168	3	4	20	1	0	0	0	0	1	0	0	0	4429	652	23	1	598	1	DENND2A	7	140227168	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1283109	140227168	18911495	839	18510											
ADCK2	90956	broad.mit.edu	37	chr7	140380868	140380868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctgtgtccagttaccaGcaggcaggaattcccgtgga	13	11	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:140380868G>A	uc003vvy.1	+	4	1414	c.1236G>A	c.(1234-1236)CAG>CAA	p.Q412Q	ADCK2_uc003vvz.2_Silent_p.Q412Q	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	412	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity				0	Melanoma(164;0.00956)					CCAGTTACCAGCAGGCAGGAA	0.577													A	140380868	G	A	140380868	2	1	20	1	0	0	0	0	0	0	0	1	289	962	34	2		2	ADCK2	7	140380868	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	153700	140380868	18757795	840	18511											
BRAF	673	broad.mit.edu	37	chr7	140482927	140482927	+	Frame_Shift_Del	DEL	G	G	-													gtgagccaggtaatgaggcaGggggggtagcagacaaacct							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:140482926_140482926AG>A	uc003vwc.4	-	9	1270	c.1209_1209CT>T	c.(1207-1209)cctfs	p.P403fs		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	403					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTAATGAGGCAGGGGGGGTAG	0.428		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				-	140482927	G	-	140482927	7	5	20	1	0	1	0	1	0	0	0	0	1496	1000	35	0	1128	0	BRAF	7	140482927	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	102059	140482927	18655736	841	18512											
FAM131B	9715	broad.mit.edu	37	chr7	143053849	143053849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccttgccaggtccactgCgcctacccccggagcccagt	10	20	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:143053849C>T	uc003wct.2	-	6	2499	c.793G>A	c.(793-795)GCA>ACA	p.A265T	FAM131B_uc010loz.2_Missense_Mutation_p.A233T|FAM131B_uc003wcu.3_Missense_Mutation_p.A265T|FAM131B_uc010lpa.2_Missense_Mutation_p.A293T	NM_014690	NP_055505	Q86XD5	F131B_HUMAN	hypothetical protein LOC9715 isoform b	265											0	Melanoma(164;0.205)					AGGTCCACTGCGCCTACCCCC	0.622													T	143053849	C	T	143053849	3	4	20	1	0	0	0	0	1	0	0	0	5440	768	27	1	209	1	FAM131B	7	143053849	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2570922	143053849	16084814	842	18513											
FAM131B	9715	broad.mit.edu	37	chr7	143053878	143053878	+	Frame_Shift_Del	DEL	C	C	-													ccggagcccagtcagtgtctCcccccagcaaaggtggaggc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:143053877_143053877TC>T	uc010lpa.3	-	6	993	c.849_849GA>A	c.(847-849)ggafs	p.G283fs	FAM131B_uc010loz.3_Frame_Shift_Del_p.G223fs|FAM131B_uc003wct.3_Frame_Shift_Del_p.G255fs|FAM131B_uc003wcu.4_Frame_Shift_Del_p.G255fs	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	255	Poly-Glu.									breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					AGTCAGTGTCTCCCCCCAGCA	0.607													-	143053878	C	-	143053878	7	5	20	1	0	1	0	1	0	0	0	0	5440	855	30	0	238	0	FAM131B	7	143053878	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	29	143053878	16084785	843	18514											
OR2A2	442361	broad.mit.edu	37	chr7	143807240	143807240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcctcaagctggcctgtGctgacacctgggttaaccaa	10	13	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:143807240G>A	uc011ktz.1	+	1	565	c.565G>A	c.(565-567)GCT>ACT	p.A189T		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	189	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.0783)					GCTGGCCTGTGCTGACACCTG	0.507													A	143807240	G	A	143807240	3	1	20	1	0	0	0	0	1	0	0	0	10977	1319	46	2	567	2	OR2A2	7	143807240	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	753362	143807240	15331423	844	18515											
ZNF786	136051	broad.mit.edu	37	chr7	148767606	148767606	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggacaggattttgtgtgtActctgatgtgctccgcaagc	12	9	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:148767606A>G	uc003wfh.2	-	4	2395	c.2258T>C	c.(2257-2259)GTA>GCA	p.V753A	ZNF786_uc011kuk.1_Missense_Mutation_p.V716A|ZNF786_uc003wfi.2_Missense_Mutation_p.V667A	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	753	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTTTGTGTGTACTCTGATGTG	0.517													G	148767606	A	G	148767606	3	3	20	1	0	0	0	0	1	0	0	0	18155	391	14	3	94	3	ZNF786	7	148767606	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	4960366	148767606	10371057	845	18516											
ZNF282	8427	broad.mit.edu	37	chr7	148909543	148909543	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggatttggcagacagagataTtcccacggatcccaattcag	10	10	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:148909543T>A	uc003wfm.2	+	6	1151	c.1046T>A	c.(1045-1047)ATT>AAT	p.I349N	ZNF282_uc011kun.1_Missense_Mutation_p.I349N|ZNF282_uc003wfn.2_Missense_Mutation_p.I289N|ZNF282_uc003wfo.2_Intron	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	349					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GACAGAGATATTCCCACGGAT	0.323													A	148909543	T	A	148909543	3	1	20	1	0	0	0	0	1	0	0	0	17816	1493	52	5	1068	5	ZNF282	7	148909543	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	141937	148909543	10229120	846	18517											
KRBA1	84626	broad.mit.edu	37	chr7	149423093	149423093	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcctcatccagcagcacCgactgggacctggattttgg	10	13	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:149423093C>T	uc003wfz.2	+	11	1815	c.1416C>T	c.(1414-1416)ACC>ACT	p.T472T	KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Silent_p.T140T	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	KRAB A domain containing 1	472										ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGCAGCACCGACTGGGACC	0.647													T	149423093	C	T	149423093	2	4	20	1	0	0	0	0	0	0	0	1	8439	639	23	1		1	KRBA1	7	149423093	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	513550	149423093	9715570	847	18518											
SSPO	23145	broad.mit.edu	37	chr7	149474079	149474079	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtgaggacttgttgcccaGgctgggggggcgcccactgc	17	12	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:149474079G>T	uc010lpk.2	+	3	289	c.289G>T	c.(289-291)GGC>TGC	p.G97C	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	97	EMI.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTGTTGCCCAGGCTGGGGGGG	0.622													T	149474079	G	T	149474079	3	4	20	1	0	0	0	0	1	0	0	0	15188	1000	35	5	299	5	SSPO	7	149474079	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	50986	149474079	9664584	848	18519											
SLC4A2	6522	broad.mit.edu	37	chr7	150771788	150771788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgttcccagtggattctcGgtgactgccccagaaaagag	12	11	1	3	rs17852574		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:150771788G>A	uc003wit.3	+	19	3163	c.2907G>A	c.(2905-2907)TCG>TCA	p.S969S	SLC4A2_uc011kve.1_Silent_p.S960S|SLC4A2_uc003wiu.3_Silent_p.S955S|SLC4A2_uc003wiv.3_Silent_p.S163S	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	969	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGGATTCTCGGTGACTGCCC	0.592													A	150771788	G	A	150771788	2	1	20	1	0	0	0	0	0	0	0	1	14654	1103	39	1		1	SLC4A2	7	150771788	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1297709	150771788	8366875	849	18520											
FASTK	10922	broad.mit.edu	37	chr7	150774091	150774091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcccggcagaaatgccagCgttcccgcaacaccagcacc	9	18	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:150774091C>T	uc003wix.1	-	9	1549	c.1451G>A	c.(1450-1452)CGC>CAC	p.R484H	uc011kvf.1_5'Flank|FASTK_uc003wiw.1_Missense_Mutation_p.R245H|FASTK_uc003wiy.1_Missense_Mutation_p.R343H|FASTK_uc003wiz.1_Missense_Mutation_p.R457H|FASTK_uc003wja.1_3'UTR	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase isoform 1	484	RAP.				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(2)|stomach(2)	4			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GAAATGCCAGCGTTCCCGCAA	0.701													T	150774091	C	T	150774091	3	4	20	1	0	0	0	0	1	0	0	0	5684	768	27	1	206	1	FASTK	7	150774091	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2303	150774091	8364572	850	18521											
GALNT11	63917	broad.mit.edu	37	chr7	151810452	151810452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgacacacaactctttgcGgctggcacatgtctggttgg	11	11	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:151810452G>A	uc010lqg.1	+	8	1432	c.1202G>A	c.(1201-1203)CGG>CAG	p.R401Q	GALNT11_uc011kvm.1_Missense_Mutation_p.R320Q|GALNT11_uc003wku.2_Missense_Mutation_p.R401Q|GALNT11_uc003wkw.1_Missense_Mutation_p.R149Q	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	401	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AACTCTTTGCGGCTGGCACAT	0.468													A	151810452	G	A	151810452	3	1	20	1	0	0	0	0	1	0	0	0	6209	1116	39	1	1228	1	GALNT11	7	151810452	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1036361	151810452	7328211	851	18522											
LMBR1	64327	broad.mit.edu	37	chr7	156520652	156520652	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttggcattgctgtttcaTcaaccaataggcaaagaata	7	8	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:156520652T>G	uc003wmw.3	-	12	1180	c.965A>C	c.(964-966)GAT>GCT	p.D322A	LMBR1_uc003wmv.3_Missense_Mutation_p.D170A|LMBR1_uc003wmx.3_Missense_Mutation_p.D170A|LMBR1_uc010lqn.2_Missense_Mutation_p.D363A|LMBR1_uc011kvx.1_Missense_Mutation_p.D301A	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	limb region 1 protein	322	Extracellular (Potential).					integral to membrane	receptor activity				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TGCTGTTTCATCAACCAATAG	0.363													G	156520652	T	G	156520652	3	3	20	1	0	0	0	0	1	0	0	0	8840	1435	50	5	531	5	LMBR1	7	156520652	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	4710200	156520652	2618011	852	18523											
NOM1	64434	broad.mit.edu	37	chr7	156742955	156742956	+	Frame_Shift_Ins	INS	-	-	T													gctgcccggaaacgggcgctINStttagcggcgaacgaggagg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:156742954_156742955C>CT	uc003wmy.3	+	0	538_539	c.523_524C>CT	c.(523-525)cttfs	p.L175fs		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.	175	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GAAACGGGCGCTTTTAGCGGCG	0.673													T	156742956	-	T	156742955	7	5	20	1	0	1	1	0	0	0	0	0	10530	1609	56	0	526	0	NOM1	7	156742955	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	222303	156742955	2395708	853	18524											
PTPRN2	5799	broad.mit.edu	37	chr7	157985114	157985114	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaagggcaggtggcgtcGgagggcgttggccagggcag	22	8	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:157985114G>A	uc003wno.2	-	5	575	c.454C>T	c.(454-456)CGA>TGA	p.R152*	PTPRN2_uc003wnp.2_Nonsense_Mutation_p.R135*|PTPRN2_uc003wnq.2_Nonsense_Mutation_p.R152*|PTPRN2_uc003wnr.2_Nonsense_Mutation_p.R114*|PTPRN2_uc011kwa.1_Nonsense_Mutation_p.R175*	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	152	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGTGGCGTCGGAGGGCGTTG	0.652													A	157985114	G	A	157985114	4	1	20	1	0	0	0	0	0	1	0	0	12808	1124	39	1	2669	1	PTPRN2	7	157985114	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1242159	157985114	1153549	854	18525											
NCAPG2	54892	broad.mit.edu	37	chr7	158486107	158486107	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctgtcaataaattcttcAgcctttgccataattcttct	3	11	6	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:158486107A>G	uc003wnv.1	-	3	306	c.161T>C	c.(160-162)CTG>CCG	p.L54P	NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.L54P|NCAPG2_uc011kwe.1_Missense_Mutation_p.L54P	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	54					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TAAATTCTTCAGCCTTTGCCA	0.408													G	158486107	A	G	158486107	3	3	20	1	0	0	0	0	1	0	0	0	10208	188	7	3	3374	3	NCAPG2	7	158486107	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	500993	158486107	652556	855	18526											
ESYT2	57488	broad.mit.edu	37	chr7	158531742	158531742	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcacgaccacgataagctTgtttctctgcgagctgtgcc	10	12	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:158531742T>C	uc003wob.1	-	18	2386	c.2320A>G	c.(2320-2322)AAG>GAG	p.K774E	ESYT2_uc003wny.1_RNA|ESYT2_uc003wnz.1_Missense_Mutation_p.K213E|ESYT2_uc003woa.1_Missense_Mutation_p.K351E	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain	802	C2 3.					integral to membrane|plasma membrane				central_nervous_system(2)|kidney(1)	3						ACGATAAGCTTGTTTCTCTGC	0.607													C	158531742	T	C	158531742	3	2	20	1	0	0	0	0	1	0	0	0	5265	1821	63	3	381	3	ESYT2	7	158531742	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	45635	158531742	606921	856	18527											
WDR60	55112	broad.mit.edu	37	chr7	158695164	158695164	+	Frame_Shift_Del	DEL	A	A	-													ggaagaacttcctctagctcAaaaaaaggaaatacaagaaa							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:158695163_158695163CA>C	uc003woe.4	+	9	1392	c.1234_1234CA>C	c.(1234-1236)caafs	p.Q412fs	WDR60_uc010lqv.3_Non-coding_Transcript|WDR60_uc010lqw.3_5'UTR	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	412										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TCCTCTAGCTCAAAAAAAGGA	0.373													-	158695164	A	-	158695164	7	5	20	1	0	1	0	1	0	0	0	0	17308	130	5	0	1273	0	WDR60	7	158695164	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	163422	158695164	443499	857	18528											
CSMD1	64478	broad.mit.edu	37	chr8	2808696	2808696	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcattcaccttactgcttgTtgcattgaaccagtcaacag	8	11	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:2808696T>C	uc011kwk.1	-	66	10534	c.10144A>G	c.(10144-10146)ACA>GCA	p.T3382A	CSMD1_uc011kwj.1_Missense_Mutation_p.T2696A|CSMD1_uc010lrg.2_Missense_Mutation_p.T1273A	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3382	Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTACTGCTTGTTGCATTGAAC	0.468													C	2808696	T	C	2808696	3	2	20	1	0	0	0	0	1	0	0	0	3944	1725	60	3	573	3	CSMD1	8	2808696	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08		2808696	143555326	858	18529											
CSMD1	64478	broad.mit.edu	37	chr8	3200878	3200878	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgttgaactctagccacAggtgattggatgtgctgttt	13	6	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:3200878A>G	uc011kwk.1	-	23	3962	c.3572T>C	c.(3571-3573)CTG>CCG	p.L1191P	CSMD1_uc011kwj.1_Missense_Mutation_p.L583P|CSMD1_uc003wqe.2_Missense_Mutation_p.L347P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1191	Extracellular (Potential).|CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCTAGCCACAGGTGATTGGA	0.428													G	3200878	A	G	3200878	3	3	20	1	0	0	0	0	1	0	0	0	3944	188	7	3	7317	3	CSMD1	8	3200878	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	392182	3200878	143163144	859	18530											
CSMD1	64478	broad.mit.edu	37	chr8	3216843	3216843	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagggactccaggatcatcAcatggctccaggtcatattc	10	12	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:3216843A>G	uc011kwk.1	-	21	3528	c.3138T>C	c.(3136-3138)TGT>TGC	p.C1046C	CSMD1_uc011kwj.1_Silent_p.C438C|CSMD1_uc003wqe.2_Silent_p.C202C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1046	Sushi 6.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGGATCATCACATGGCTCCA	0.433													G	3216843	A	G	3216843	2	3	20	1	0	0	0	0	0	0	0	1	3944	157	6	3		3	CSMD1	8	3216843	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	15965	3216843	143147179	860	18531											
MCPH1	79648	broad.mit.edu	37	chr8	6302587	6302587	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagctgcagaagtctttcTaagaaggagagaacaagcat	11	6	2	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:6302587T>C	uc003wqi.2	+	8	1412	c.1344T>C	c.(1342-1344)TCT>TCC	p.S448S	MCPH1_uc003wqh.2_Silent_p.S448S|MCPH1_uc011kwl.1_Silent_p.S400S	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	448						microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GAAGTCTTTCTAAGAAGGAGA	0.393													C	6302587	T	C	6302587	2	2	20	1	0	0	0	0	0	0	0	1	9398	1509	53	3		3	MCPH1	8	6302587	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3085744	6302587	140061435	861	18532											
SGK223	157285	broad.mit.edu	37	chr8	8185359	8185359	+	Frame_Shift_Del	DEL	T	T	-													tctcattgaagtggagctccTttttctggccgcccatgaag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:8185358_8185358CT>C	uc003wsh.4	-	3	2934	c.2934_2934AG>G	c.(2932-2934)aagfs	p.K978fs		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	978	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										AGTGGAGCTCCTTTTTCTGGC	0.552													-	8185359	T	-	8185359	7	5	20	1	0	1	0	1	0	0	0	0	14210	1609	56	0	1283	0	SGK223	8	8185359	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	1882772	8185359	138178663	862	18533											
PRSS55	203074	broad.mit.edu	37	chr8	10383222	10383222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagcccaccgccctcagCcccctcatccccccagccca	8	24	2	0	rs148104469		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:10383222C>T	uc003wta.2	+	1	142	c.127C>T	c.(127-129)CCC>TCC	p.P43S	uc010lru.2_Intron	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	hypothetical protein LOC203074 precursor	43	Extracellular (Potential).				proteolysis	integral to membrane	serine-type endopeptidase activity			ovary(1)	1						CCGCCCTCAGCCCCCTCATCC	0.667													T	10383222	C	T	10383222	3	4	20	1	0	0	0	0	1	0	0	0	12634	739	26	2	129	2	PRSS55	8	10383222	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2197863	10383222	135980800	863	18534											
DLC1	10395	broad.mit.edu	37	chr8	12948849	12948849	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaagcttcttgcactcgGcgatcatatgggccagccct	11	12	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:12948849G>C	uc003wwm.2	-	14	4277	c.3833C>G	c.(3832-3834)GCC>GGC	p.A1278G	DLC1_uc003wwk.1_Missense_Mutation_p.A841G|DLC1_uc003wwl.1_Missense_Mutation_p.A875G|DLC1_uc011kxx.1_Missense_Mutation_p.A767G	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1278	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						CTTGCACTCGGCGATCATATG	0.418													C	12948849	G	C	12948849	3	2	20	1	0	0	0	0	1	0	0	0	4550	1203	42	5	773	5	DLC1	8	12948849	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2565627	12948849	133415173	864	18535											
FGF20	26281	broad.mit.edu	37	chr8	16850819	16850819	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaagatgcattcggaagtaAgtttctcctgaaagagagaa	10	5	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:16850819A>C	uc003wxc.1	-	3	531	c.398T>G	c.(397-399)CTT>CGT	p.L133R	FGF20_uc010lsv.1_RNA|FGF20_uc010lsw.1_Silent_p.T98T	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	133					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			lung(1)	1				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TTCGGAAGTAAGTTTCTCCTG	0.323													C	16850819	A	C	16850819	3	2	20	1	0	0	0	0	1	0	0	0	5849	72	3	5	241	5	FGF20	8	16850819	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	3901970	16850819	129513203	865	18536											
MTMR7	9108	broad.mit.edu	37	chr8	17157580	17157580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgccttgtgaagggctccGggatggaaatgatttcatat	12	7	1	2	rs140365611		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:17157580G>A	uc003wxm.2	-	14	2013	c.1774C>T	c.(1774-1776)CGG>TGG	p.R592W	MTMR7_uc011kya.1_Missense_Mutation_p.R226W|MTMR7_uc011kyb.1_Missense_Mutation_p.R183W	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	592							protein tyrosine phosphatase activity			skin(1)	1				Colorectal(111;0.112)		GAAGGGCTCCGGGATGGAAAT	0.478													A	17157580	G	A	17157580	3	1	20	1	0	0	0	0	1	0	0	0	9948	1115	39	1	212	1	MTMR7	8	17157580	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	306761	17157580	129206442	866	18537											
ASAH1	427	broad.mit.edu	37	chr8	17916887	17916887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagacacatctttgcaggcGttctgcgatcatcaaggaag	10	10	5	1	rs147233112	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:17916887G>A	uc003wyl.2	-	12	1316	c.1004C>T	c.(1003-1005)ACG>ATG	p.T335M	ASAH1_uc010ltb.1_RNA|ASAH1_uc003wym.2_Missense_Mutation_p.T310M|ASAH1_uc003wyn.2_Missense_Mutation_p.T351M|ASAH1_uc003wyo.2_Missense_Mutation_p.T329M	NM_177924	NP_808592	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase 1 isoform a	335					ceramide metabolic process	lysosome	ceramidase activity				0				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		CTTTGCAGGCGTTCTGCGATC	0.453													A	17916887	G	A	17916887	3	1	20	1	0	0	0	0	1	0	0	0	1006	1145	40	1	195	1	ASAH1	8	17916887	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	759307	17916887	128447135	867	18538											
LZTS1	11178	broad.mit.edu	37	chr8	20112401	20112401	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggggggtgtggacgggtcaaAgtccaccccagcctggcccc	16	14	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:20112401A>T	uc003wzr.2	-	1	403	c.292T>A	c.(292-294)TTT>ATT	p.F98I	LZTS1_uc010ltg.1_Missense_Mutation_p.F98I	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	98					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GACGGGTCAAAGTCCACCCCA	0.592													T	20112401	A	T	20112401	3	4	20	1	0	0	0	0	1	0	0	0	9138	72	3	5	1510	5	LZTS1	8	20112401	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2195514	20112401	126251621	868	18539											
EPB49	2039	broad.mit.edu	37	chr8	21926552	21926552	+	Frame_Shift_Del	DEL	C	C	-													gctgtcacccaaatccacatCccccccaccatccccagagg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:21926551_21926551TC>T	uc022asw.1	+	3	312	c.274_274TC>T	c.(274-276)tccfs	p.S92fs	EPB49_uc022asq.1_Frame_Shift_Del_p.S92fs|EPB49_uc011kys.1_Intron|EPB49_uc022asr.1_Frame_Shift_Del_p.S92fs|EPB49_uc022ass.1_Frame_Shift_Del_p.S67fs|EPB49_uc022ast.1_Frame_Shift_Del_p.S92fs|EPB49_uc022asu.1_Frame_Shift_Del_p.S92fs|EPB49_uc022asv.1_Frame_Shift_Del_p.S92fs|EPB49_uc022asx.1_Frame_Shift_Del_p.S92fs|EPB49_uc022asy.1_Frame_Shift_Del_p.S67fs	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	92					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		CAAATCCACATCCCCCCCACC	0.607													-	21926552	C	-	21926552	7	5	20	1	0	1	0	1	0	0	0	0	5159	855	30	0	289	0	EPB49	8	21926552	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	1814151	21926552	124437470	869	18540											
EPB49	2039	broad.mit.edu	37	chr8	21926994	21926994	+	Frame_Shift_Del	DEL	C	C	-													ggcccccagaaccactggaaCcccccggaccagcctgcccc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:21926993_21926993AC>A	uc022asw.1	+	4	396	c.358_358AC>A	c.(358-360)accfs	p.T120fs	EPB49_uc022asq.1_Frame_Shift_Del_p.T120fs|EPB49_uc011kys.1_Frame_Shift_Del_p.T80fs|EPB49_uc022asr.1_Frame_Shift_Del_p.T120fs|EPB49_uc022ass.1_Frame_Shift_Del_p.T95fs|EPB49_uc022ast.1_Frame_Shift_Del_p.T120fs|EPB49_uc022asu.1_Frame_Shift_Del_p.T120fs|EPB49_uc022asv.1_Frame_Shift_Del_p.T120fs|EPB49_uc022asx.1_Frame_Shift_Del_p.T120fs|EPB49_uc022asy.1_Frame_Shift_Del_p.T95fs	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	120					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		AACCACTGGAACCCCCCGGAC	0.622													-	21926994	C	-	21926994	7	5	20	1	0	1	0	1	0	0	0	0	5159	507	18	0	377	0	EPB49	8	21926994	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	442	21926994	124437028	870	18541											
KIAA1967	57805	broad.mit.edu	37	chr8	22477167	22477169	+	In_Frame_Del	DEL	AGA	AGA	-													acaggctgacagctgggtggAgaaggaggagccggcaccta							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:22477167_22477169delAGA	uc003xch.2	+	21	2881_2883	c.2744_2746delAGA	c.(2743-2748)GAGAAG>GAG	p.K916del	KIAA1967_uc003xci.2_In_Frame_Del_p.K916del|KIAA1967_uc003xcj.1_3'UTR	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	916					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AGCTGGGTGGAGAAGGAGGAGCC	0.626													-	22477169	AGA	-	22477167	7	5	20	1	0	1	0	1	0	0	0	0	8265	304	11	0	2822	0	KIAA1967	8	22477167	In_Frame_Del	DEL	AGA	TCGA-BR-4362-01A-01D-1158-08	550173	22477167	123886855	871	18542											
CHMP7	91782	broad.mit.edu	37	chr8	23115862	23115862	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcactgaggtctctcaaggCcaagcaacggacagagaagc	13	11	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:23115862C>A	uc003xdc.2	+	7	1508	c.860C>A	c.(859-861)GCC>GAC	p.A287D	CHMP7_uc011kzs.1_RNA|CHMP7_uc003xdd.2_Missense_Mutation_p.A177D|CHMP7_uc003xde.2_Missense_Mutation_p.A145D	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	CHMP family, member 7	287	Potential.				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity				0		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TCTCTCAAGGCCAAGCAACGG	0.572													A	23115862	C	A	23115862	3	1	20	1	0	0	0	0	1	0	0	0	3361	739	26	5	882	5	CHMP7	8	23115862	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	638695	23115862	123248160	872	18543											
NEFM	4741	broad.mit.edu	37	chr8	24773231	24773231	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggctctggatatagaaatCgctgcgtacaggtacgatgc	12	8	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:24773231C>T	uc003xed.3	+	2	1227	c.1194C>T	c.(1192-1194)ATC>ATT	p.I398I	NEFM_uc011lac.1_Silent_p.I398I|NEFM_uc010lue.2_Silent_p.I22I	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	398	Rod.|Coil 2B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATATAGAAATCGCTGCGTACA	0.527													T	24773231	C	T	24773231	2	4	20	1	0	0	0	0	0	0	0	1	10316	874	31	1		1	NEFM	8	24773231	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1657369	24773231	121590791	873	18544											
DOCK5	80005	broad.mit.edu	37	chr8	25158099	25158099	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcctttgccagtgagaacTatctaattcgttggggcagt	10	8	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:25158099T>C	uc003xeg.2	+	9	909	c.772T>C	c.(772-774)TAT>CAT	p.Y258H	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Intron|DOCK5_uc003xef.2_Missense_Mutation_p.Y258H	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	258						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAGTGAGAACTATCTAATTCG	0.433													C	25158099	T	C	25158099	3	2	20	1	0	0	0	0	1	0	0	0	4690	1522	53	3	806	3	DOCK5	8	25158099	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	384868	25158099	121205923	874	18545											
EBF2	64641	broad.mit.edu	37	chr8	25902252	25902252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtgtcgttacctctgcgCggcgacattagcgtccacca	11	15	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:25902252C>T	uc003xes.1	-	1	141	c.124G>A	c.(124-126)GCG>ACG	p.A42T	PPP2R2A_uc003xek.2_Intron|EBF2_uc003xet.1_Missense_Mutation_p.A42T	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	42					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TACCTCTGCGCGGCGACATTA	0.602													T	25902252	C	T	25902252	3	4	20	1	0	0	0	0	1	0	0	0	4881	768	27	1	1667	1	EBF2	8	25902252	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	744153	25902252	120461770	875	18546											
CLU	1191	broad.mit.edu	37	chr8	27466514	27466515	+	Frame_Shift_Ins	INS	-	-	T													gtcttgcgctcttcgtttgtINStttttctatgagagtcttta					rs138211435		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:27466513_27466514G>GT	uc003xfy.2	-	2	367_368	c.220_221C>AC	c.(220-222)acafs	p.T74fs	CLU_uc003xfw.2_Frame_Shift_Ins_p.T63fs|CLU_uc003xfx.2_Frame_Shift_Ins_p.T63fs|CLU_uc003xfz.2_Frame_Shift_Ins_p.T63fs	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	63					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CTCTTCGTTTGTTTTTTCTATG	0.46													T	27466515	-	T	27466514	7	5	20	1	0	1	1	0	0	0	0	0	3568	1725	60	0	1190	0	CLU	8	27466514	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	1564262	27466514	118897508	876	18547											
SCARA5	286133	broad.mit.edu	37	chr8	27823980	27823980	+	Frame_Shift_Del	DEL	C	C	-													aggaagaccagcaggtagagCcccaggacagcatgcttcag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:27823979_27823979GC>G	uc003xgj.3	-	2	804	c.193_193GC>C	c.(193-195)ctcfs	p.L65fs	SCARA5_uc010luz.3_Frame_Shift_Del_p.L65fs|SCARA5_uc003xgk.3_Intron|SCARA5_uc003xgl.3_Frame_Shift_Del_p.L65fs	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA.	65					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		AGCAGGTAGAGCCCCAGGACA	0.542													-	27823980	C	-	27823980	7	5	20	1	0	1	0	1	0	0	0	0	13880	726	26	0	1323	0	SCARA5	8	27823980	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	357466	27823980	118540042	877	18548											
EXTL3	2137	broad.mit.edu	37	chr8	28575417	28575417	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagggcctttccatctttTcccccacactccctttgacc	4	19	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:28575417T>C	uc003xgz.1	+	3	2434	c.1841T>C	c.(1840-1842)TTC>TCC	p.F614S		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	614	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TTCCATCTTTTCCCCCACACT	0.577													C	28575417	T	C	28575417	3	2	20	1	0	0	0	0	1	0	0	0	5327	1783	62	3	1843	3	EXTL3	8	28575417	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	751437	28575417	117788605	878	18549											
BRF2	55290	broad.mit.edu	37	chr8	37702451	37702451	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcagccatccgcagcaGcacagccagcagctcctgca	9	18	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:37702451G>A	uc003xkk.2	-	4	927	c.817C>T	c.(817-819)CTG>TTG	p.L273L		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	RNA polymerase III transcription initiation	273					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding				0		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			ATCCGCAGCAGCACAGCCAGC	0.582													A	37702451	G	A	37702451	2	1	20	1	0	0	0	0	0	0	0	1	1511	962	34	2		2	BRF2	8	37702451	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	9127034	37702451	108661571	879	18550											
WHSC1L1	54904	broad.mit.edu	37	chr8	38187222	38187223	+	Frame_Shift_Ins	INS	-	-	T													acagatcttggtcgtcgggtINSttttttaacttcggttttgg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:38187221_38187222G>GT	uc003xli.3	-	5	1773_1774	c.1255_1256C>AC	c.(1255-1257)accfs	p.T419fs	WHSC1L1_uc011lbm.2_Frame_Shift_Ins_p.T419fs|WHSC1L1_uc010lwe.3_Frame_Shift_Ins_p.T419fs|WHSC1L1_uc003xlj.3_Frame_Shift_Ins_p.T419fs	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	419					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGGTCGTCGGGTTTTTTTAACT	0.431			T	NUP98	AML								T	38187223	-	T	38187222	7	5	20	1	0	1	1	0	0	0	0	0	17360	1725	60	0	3221	0	WHSC1L1	8	38187222	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	484771	38187222	108176800	880	18551											
FGFR1	2260	broad.mit.edu	37	chr8	38275753	38275753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagtattattacctgtcccGaggcagctcccagcgagggt	11	11	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:38275753G>A	uc003xlp.2	-	11	2365	c.1423C>T	c.(1423-1425)CGG>TGG	p.R475W	FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Missense_Mutation_p.R473W|FGFR1_uc011lbp.1_Missense_Mutation_p.R386W|FGFR1_uc011lbq.1_Missense_Mutation_p.R384W|FGFR1_uc010lwk.2_Missense_Mutation_p.R465W	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	475	Cytoplasmic (Potential).				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TACCTGTCCCGAGGCAGCTCC	0.532		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						A	38275753	G	A	38275753	3	1	20	1	0	0	0	0	1	0	0	0	5863	1057	37	1	1081	1	FGFR1	8	38275753	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	88531	38275753	108088269	881	18552											
GINS4	84296	broad.mit.edu	37	chr8	41399516	41399516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctctttttcagggactaCgtgattgacctggagaaggg	12	9	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:41399516C>T	uc003xnx.2	+	8	792	c.582C>T	c.(580-582)TAC>TAT	p.Y194Y	GINS4_uc003xny.2_Silent_p.Y194Y	NM_032336	NP_115712	Q9BRT9	SLD5_HUMAN	GINS complex subunit 4	194	Important for GINS complex assembly.				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				skin(1)	1	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			TCAGGGACTACGTGATTGACC	0.517													T	41399516	C	T	41399516	2	4	20	1	0	0	0	0	0	0	0	1	6390	547	19	1		1	GINS4	8	41399516	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	3123763	41399516	104964506	882	18553											
CHRNA6	8973	broad.mit.edu	37	chr8	42611479	42611479	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgggatggtttctgtgatgAccagcaaaaacacagtcaga	11	7	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:42611479A>G	uc003xpj.2	-	5	909	c.863T>C	c.(862-864)GTC>GCC	p.V288A	CHRNA6_uc011lcw.1_Missense_Mutation_p.V273A	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	288	Helical; (Potential).					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TTCTGTGATGACCAGCAAAAA	0.473													G	42611479	A	G	42611479	3	3	20	1	0	0	0	0	1	0	0	0	3387	275	10	3	629	3	CHRNA6	8	42611479	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1211963	42611479	103752543	883	18554											
PRKDC	5591	broad.mit.edu	37	chr8	48846583	48846583	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacgtagtctttgtatgtgGgcaccttccatttgccagtt	9	11	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:48846583G>T	uc003xqi.2	-	15	1622	c.1565C>A	c.(1564-1566)CCC>CAC	p.P522H	PRKDC_uc003xqj.2_Missense_Mutation_p.P522H|PRKDC_uc011ldh.1_Missense_Mutation_p.P522H	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	522					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TTTGTATGTGGGCACCTTCCA	0.468								NHEJ					T	48846583	G	T	48846583	3	4	20	1	0	0	0	0	1	0	0	0	12521	1232	43	5	11108	5	PRKDC	8	48846583	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	6235104	48846583	97517439	884	18555											
EFCAB1	79645	broad.mit.edu	37	chr8	49647703	49647703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcttctgcagtttcttgCggttcatgtctggcgctcag	11	11	6	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:49647703C>T	uc003xqo.2	-	1	168	c.8G>A	c.(7-9)CGC>CAC	p.R3H	EFCAB1_uc003xqn.3_RNA|EFCAB1_uc011ldj.1_Missense_Mutation_p.R3H|EFCAB1_uc010lxx.2_RNA|EFCAB1_uc011ldk.1_RNA	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1 isoform a	3							calcium ion binding				0		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CAGTTTCTTGCGGTTCATGTC	0.622													T	49647703	C	T	49647703	3	4	20	1	0	0	0	0	1	0	0	0	4933	768	27	1	651	1	EFCAB1	8	49647703	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	801120	49647703	96716319	885	18556											
SNTG1	54212	broad.mit.edu	37	chr8	51449331	51449331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatccctctacttcattcgCgcttctctcagtatgtgccc	6	15	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:51449331C>T	uc010lxy.1	+	12	1014	c.643C>T	c.(643-645)CGC>TGC	p.R215C	SNTG1_uc003xqs.1_Missense_Mutation_p.R215C|SNTG1_uc010lxz.1_Missense_Mutation_p.R215C|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	215					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ACTTCATTCGCGCTTCTCTCA	0.488													T	51449331	C	T	51449331	3	4	20	1	0	0	0	0	1	0	0	0	14874	768	27	1	677	1	SNTG1	8	51449331	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1801628	51449331	94914691	886	18557											
PXDNL	137902	broad.mit.edu	37	chr8	52366130	52366130	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgccgtggctattgttggCatgacaggtaaatcgaccat	12	8	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:52366130C>A	uc003xqu.3	-	10	1299	c.1198G>T	c.(1198-1200)GCC>TCC	p.A400S		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	400	Ig-like C2-type 2.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTATTGTTGGCATGACAGGTA	0.483													A	52366130	C	A	52366130	3	1	20	1	0	0	0	0	1	0	0	0	12848	710	25	5	3249	5	PXDNL	8	52366130	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	916799	52366130	93997892	887	18558											
RB1CC1	9821	broad.mit.edu	37	chr8	53568877	53568877	+	Frame_Shift_Del	DEL	T	T	-													caattatttgttcttttaggTttttttctatttcaaatgct					rs138517468		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:53568876_53568876GT>G	uc003xre.4	-	14	4071	c.3513_3513AC>C	c.(3511-3513)aacfs	p.N1171fs	RB1CC1_uc003xrf.4_Frame_Shift_Del_p.N1171fs	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	1171					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding	p.N1171fs*8(2)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GTTCTTTTAGGTTTTTTTCTA	0.289													-	53568877	T	-	53568877	7	5	20	1	0	1	0	1	0	0	0	0	13099	1725	60	0	1312	0	RB1CC1	8	53568877	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	1202747	53568877	92795145	888	18559											
NPBWR1	2831	broad.mit.edu	37	chr8	53852727	53852727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgccgacgagctcttcaCgctggtgctgcccatcaaca	9	16	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:53852727C>T	uc011ldu.1	+	1	260	c.260C>T	c.(259-261)ACG>ATG	p.T87M		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	87	Helical; Name=2; (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GAGCTCTTCACGCTGGTGCTG	0.622													T	53852727	C	T	53852727	3	4	20	1	0	0	0	0	1	0	0	0	10568	536	19	1	262	1	NPBWR1	8	53852727	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	283850	53852727	92511295	889	18560											
MRPL15	29088	broad.mit.edu	37	chr8	55055348	55055348	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgatccaagaagtctgggTaagtttgttccacggtcatt	10	7	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:55055348T>C	uc003xsa.2	+	4	616	c.553_splice	c.e4+2	p.D185_splice		NM_014175	NP_054894	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15 precursor						translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome				0		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			GAAGTCTGGGTAAGTTTGTTC	0.363													C	55055348	T	C	55055348	5	2	20	1	0	0	0	0	0	0	1	0	9780	1652	57	3	569	3	MRPL15	8	55055348	Splice_Site	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1202621	55055348	91308674	890	18561											
MOS	4342	broad.mit.edu	37	chr8	57026447	57026447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcccccagaagcagcttcGcaggtagctctgagggactg	14	12	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:57026447G>A	uc011leb.1	-	1	95	c.95C>T	c.(94-96)GCG>GTG	p.A32V		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	32							ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			AAGCAGCTTCGCAGGTAGCTC	0.697													A	57026447	G	A	57026447	3	1	20	1	0	0	0	0	1	0	0	0	9712	1087	38	1	948	1	MOS	8	57026447	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1971099	57026447	89337575	891	18562											
NSMAF	8439	broad.mit.edu	37	chr8	59502106	59502106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccattaacgtgtcctggcGtcttccaaatgctatggaat	8	11	1	0	rs146901191	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:59502106G>A	uc003xtt.2	-	26	2330	c.2116C>T	c.(2116-2118)CGC>TGC	p.R706C	NSMAF_uc011lee.1_Missense_Mutation_p.R737C	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	706					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)				GTGTCCTGGCGTCTTCCAAAT	0.373													A	59502106	G	A	59502106	3	1	20	1	0	0	0	0	1	0	0	0	10674	1145	40	1	661	1	NSMAF	8	59502106	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2475659	59502106	86861916	892	18563											
CHD7	55636	broad.mit.edu	37	chr8	61736543	61736543	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaagaacaggaactgcAagctgttggagggactcaag	15	7	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:61736543A>G	uc003xue.2	+	13	3823	c.3346A>G	c.(3346-3348)AAG>GAG	p.K1116E	CHD7_uc003xuf.2_Missense_Mutation_p.K229E	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1116	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGGAACTGCAAGCTGTTGGA	0.458													G	61736543	A	G	61736543	3	3	20	1	0	0	0	0	1	0	0	0	3330	131	5	3	3392	3	CHD7	8	61736543	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2234437	61736543	84627479	893	18564											
CHD7	55636	broad.mit.edu	37	chr8	61764728	61764728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctaatgaagactgaccGgcgcagacggcggcctcgag	15	13	0	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:61764728G>A	uc003xue.2	+	29	6293	c.5816G>A	c.(5815-5817)CGG>CAG	p.R1939Q		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1939	Poly-Arg.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAGACTGACCGGCGCAGACGG	0.522													A	61764728	G	A	61764728	3	1	20	1	0	0	0	0	1	0	0	0	3330	1116	39	1	5926	1	CHD7	8	61764728	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	28185	61764728	84599294	894	18565											
TTPA	7274	broad.mit.edu	37	chr8	63973933	63973933	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atattccagaggaagaatgtCtgggaaatgctgaagcaagc	12	6	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:63973933C>A	uc003xux.1	-	5	747	c.715G>T	c.(715-717)GAC>TAC	p.D239Y		NM_000370	NP_000361	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	239	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding				0	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GGAAGAATGTCTGGGAAATGC	0.393													A	63973933	C	A	63973933	3	1	20	1	0	0	0	0	1	0	0	0	16733	913	32	5	125	5	TTPA	8	63973933	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2209205	63973933	82390089	895	18566											
C8orf44	56260	broad.mit.edu	37	chr8	67592020	67592020	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagcagaaaaggcaaaAggggtctttggccatcttct	13	7	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:67592020A>G	uc003xwo.1	+	3	464	c.311A>G	c.(310-312)AAG>AGG	p.K104R	SGK3_uc003xwp.2_5'UTR|C8orf44_uc003xwq.1_Missense_Mutation_p.K104R	NM_019607	NP_062553	Q96CB5	CH044_HUMAN	hypothetical protein LOC56260	104											0	Breast(64;0.186)		Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AAAAGGCAAAAGGGGTCTTTG	0.413													G	67592020	A	G	67592020	3	3	20	1	0	0	0	0	1	0	0	0	2429	72	3	3	317	3	C8orf44	8	67592020	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	3618087	67592020	78772002	896	18567											
SGK3	23678	broad.mit.edu	37	chr8	67771720	67771720	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatattctgtgtgtgtatcTtctgactattctatagtgaa	7	7	4	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:67771720T>C	uc003xwr.2	+	17	1694	c.1395T>C	c.(1393-1395)TCT>TCC	p.S465S	SGK3_uc003xwp.2_Silent_p.S459S|SGK3_uc003xwt.2_Silent_p.S465S|SGK3_uc003xwu.2_Silent_p.S433S	NM_001033578	NP_001028750	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase 3 isoform	465	AGC-kinase C-terminal.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			ovary(1)|large_intestine(1)|lung(1)|breast(1)	4	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGTGTGTATCTTCTGACTATT	0.383													C	67771720	T	C	67771720	2	2	20	1	0	0	0	0	0	0	0	1	14212	1596	56	3		3	SGK3	8	67771720	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	179700	67771720	78592302	897	18568											
ARFGEF1	10565	broad.mit.edu	37	chr8	68204282	68204282	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgaggtgattcaggctcgTgatggcttactggagactgt	15	6	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:68204282T>C	uc003xxo.1	-	6	1106	c.716A>G	c.(715-717)CAC>CGC	p.H239R		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	239					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTCAGGCTCGTGATGGCTTAC	0.403													C	68204282	T	C	68204282	3	2	20	1	0	0	0	0	1	0	0	0	852	1696	59	3	4969	3	ARFGEF1	8	68204282	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	432562	68204282	78159740	898	18569											
PREX2	80243	broad.mit.edu	37	chr8	69005938	69005938	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagatgaagcaggggatgcTtttgactgtaaagtagaagg	16	3	0	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:69005938T>C	uc003xxv.1	+	21	2376	c.2349T>C	c.(2347-2349)GCT>GCC	p.A783A	PREX2_uc003xxu.1_Silent_p.A783A|PREX2_uc011lez.1_Silent_p.A718A	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	783					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CAGGGGATGCTTTTGACTGTA	0.403													C	69005938	T	C	69005938	2	2	20	1	0	0	0	0	0	0	0	1	12477	1596	56	3		3	PREX2	8	69005938	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	801656	69005938	77358084	899	18570											
PREX2	80243	broad.mit.edu	37	chr8	69028025	69028025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catattctcctaaattagaaCgtaagacatcagagggcata	7	8	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:69028025C>T	uc003xxv.1	+	26	3211	c.3184C>T	c.(3184-3186)CGT>TGT	p.R1062C		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1062					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						TAAATTAGAACGTAAGACATC	0.348													T	69028025	C	T	69028025	3	4	20	1	0	0	0	0	1	0	0	0	12477	536	19	1	3515	1	PREX2	8	69028025	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	22087	69028025	77335997	900	18571											
TRPA1	8989	broad.mit.edu	37	chr8	72975152	72975152	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattcataaagttaatgtgcAactgtctactgtacccatgc	6	9	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:72975152A>G	uc003xza.2	-	6	864	c.689T>C	c.(688-690)TTG>TCG	p.L230S		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	230	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	GTTAATGTGCAACTGTCTACT	0.358													G	72975152	A	G	72975152	3	3	20	1	0	0	0	0	1	0	0	0	16574	131	5	3	2758	3	TRPA1	8	72975152	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	3947127	72975152	73388870	901	18572											
TRPA1	8989	broad.mit.edu	37	chr8	72977796	72977796	+	Splice_Site	DEL	A	A	-													tctatgctcaagcaagacctAaaaaaaggggagaataattg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:72977795_72977795TA>T	uc003xza.3	-	4	620	c.445_splice	c.e4-1	p.V149_splice		NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	149						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAGCAAGACCTAAAAAAAGGG	0.368													-	72977796	A	-	72977796	8	5	20	1	0	1	0	1	0	0	1	0	16574	377	13	0		0	TRPA1	8	72977796	Splice_Site	DEL	A	TCGA-BR-4362-01A-01D-1158-08	2644	72977796	73386226	902	18573											
TRPA1	8989	broad.mit.edu	37	chr8	72984094	72984094	+	Frame_Shift_Del	DEL	A	A	-													aatccatatgcacttccttcAaaaaccacctagaggtattt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:72984093_72984093CA>C	uc003xza.3	-	1	296	c.121_121TG>G	c.(121-123)gaafs	p.E41fs		NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	41						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCACTTCCTTCAAAAACCACC	0.323													-	72984094	A	-	72984094	7	5	20	1	0	1	0	1	0	0	0	0	16574	127	5	0	3343	0	TRPA1	8	72984094	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	6298	72984094	73379928	903	18574											
STAU2	27067	broad.mit.edu	37	chr8	74525998	74525998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttactattgttttagggCgttttttaaaaaatagtttt	6	4	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:74525998C>T	uc003xzm.2	-	9	1108	c.872G>A	c.(871-873)CGC>CAC	p.R291H	STAU2_uc011lfg.1_Missense_Mutation_p.R119H|STAU2_uc003xzn.2_Missense_Mutation_p.R259H|STAU2_uc011lfh.1_Missense_Mutation_p.R187H|STAU2_uc003xzo.2_Missense_Mutation_p.R291H|STAU2_uc003xzp.2_Missense_Mutation_p.R259H|STAU2_uc011lfi.1_Missense_Mutation_p.R253H|STAU2_uc003xzq.2_Missense_Mutation_p.R71H|STAU2_uc010lzk.2_Missense_Mutation_p.R259H|STAU2_uc010lzl.1_Missense_Mutation_p.R119H	NM_014393	NP_055208	Q9NUL3	STAU2_HUMAN	staufen homolog 2 isoform e	291	Nuclear localization signal 1 (By similarity).				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding				0	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TGTTTTAGGGCGTTTTTTAAA	0.348													T	74525998	C	T	74525998	3	4	20	1	0	0	0	0	1	0	0	0	15272	768	27	1	992	1	STAU2	8	74525998	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1541904	74525998	71838024	904	18575											
ZBTB10	65986	broad.mit.edu	37	chr8	81412237	81412237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatggtctgtcttcatcacGggatcaaaaaattgccagtt	9	8	5	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:81412237G>A	uc003ybx.3	+	2	2079	c.1481G>A	c.(1480-1482)CGG>CAG	p.R494Q	ZBTB10_uc003ybv.3_Missense_Mutation_p.R202Q|ZBTB10_uc003ybw.3_Missense_Mutation_p.R494Q|ZBTB10_uc010lzt.2_Missense_Mutation_p.R494Q	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10 isoform	494					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)	1	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TCTTCATCACGGGATCAAAAA	0.373													A	81412237	G	A	81412237	3	1	20	1	0	0	0	0	1	0	0	0	17520	1116	39	1	1487	1	ZBTB10	8	81412237	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	6886239	81412237	64951785	905	18576											
PAG1	55824	broad.mit.edu	37	chr8	81897572	81897572	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgatgtctggacttcctcGtaatgctgcatgcaggtcag	12	11	2	0	rs113484085		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:81897572G>A	uc003ybz.2	-	7	1026	c.315C>T	c.(313-315)TAC>TAT	p.Y105Y		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid	105	Cytoplasmic (Potential).			Y->F: No effect on interaction with FYN or CSK.	epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity				0	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GGACTTCCTCGTAATGCTGCA	0.498													A	81897572	G	A	81897572	2	1	20	1	0	0	0	0	0	0	0	1	11388	1140	40	1		1	PAG1	8	81897572	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	485335	81897572	64466450	906	18577											
SNX16	64089	broad.mit.edu	37	chr8	82736084	82736084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaacgcttgtaatcctaatTgtctgtcttctaaaaagtca	6	8	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:82736084T>C	uc011lft.1	-	5	1061	c.554A>G	c.(553-555)CAA>CGA	p.Q185R	SNX16_uc003ycn.2_Missense_Mutation_p.Q185R|SNX16_uc003yco.2_Missense_Mutation_p.Q156R	NM_022133	NP_071416	P57768	SNX16_HUMAN	sorting nexin 16 isoform a	185	PX.				cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			ovary(1)|pancreas(1)	2						TAATCCTAATTGTCTGTCTTC	0.333													C	82736084	T	C	82736084	3	2	20	1	0	0	0	0	1	0	0	0	14887	1812	63	3	500	3	SNX16	8	82736084	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	838512	82736084	63627938	907	18578											
MMP16	4325	broad.mit.edu	37	chr8	89086858	89086858	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaacacaaaattcccgtcGctattttcataaactgcatc	4	11	1	1	rs143304974	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:89086858G>A	uc003yeb.3	-	7	1479	c.1197C>T	c.(1195-1197)AGC>AGT	p.S399S	MMP16_uc003yec.2_Silent_p.S399S	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	399	Hemopexin-like 2.|Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						AATTCCCGTCGCTATTTTCAT	0.413													A	89086858	G	A	89086858	2	1	20	1	0	0	0	0	0	0	0	1	9655	1078	38	1		1	MMP16	8	89086858	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	6350774	89086858	57277164	908	18579											
OSGIN2	734	broad.mit.edu	37	chr8	90937290	90937290	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagcttcccaaaaagctgTatcctgaatatcataaagtc	5	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:90937290T>C	uc003yeg.2	+	6	1394	c.1048T>C	c.(1048-1050)TAT>CAT	p.Y350H	OSGIN2_uc003yeh.2_Missense_Mutation_p.Y394H	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family	350					germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CAAAAAGCTGTATCCTGAATA	0.378													C	90937290	T	C	90937290	3	2	20	1	0	0	0	0	1	0	0	0	11290	1638	57	3	1202	3	OSGIN2	8	90937290	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1850432	90937290	55426732	909	18580											
DECR1	1666	broad.mit.edu	37	chr8	91029419	91029419	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaatctaaattcttttcacCtcttcaaaaagcgatgctac	4	11	5	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:91029419C>A	uc003yek.1	+	2	278	c.137C>A	c.(136-138)CCT>CAT	p.P46H	DECR1_uc011lgc.1_Missense_Mutation_p.P37H|DECR1_uc011lgd.1_Intron	NM_001359	NP_001350	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1 precursor	46					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTCTTTTCACCTCTTCAAAAA	0.353													A	91029419	C	A	91029419	3	1	20	1	0	0	0	0	1	0	0	0	4382	681	24	5	143	5	DECR1	8	91029419	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	92129	91029419	55334603	910	18581											
DECR1	1666	broad.mit.edu	37	chr8	91055016	91055016	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgattcaaccagggccTataaaaaccaaagtaagttg	8	7	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:91055016T>C	uc003yek.1	+	7	867	c.726T>C	c.(724-726)CCT>CCC	p.P242P	DECR1_uc011lgc.1_Silent_p.P233P|DECR1_uc011lgd.1_RNA	NM_001359	NP_001350	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1 precursor	242					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)			AACCAGGGCCTATAAAAACCA	0.313													C	91055016	T	C	91055016	2	2	20	1	0	0	0	0	0	0	0	1	4382	1509	53	3		3	DECR1	8	91055016	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	25597	91055016	55309006	911	18582											
TMEM55A	55529	broad.mit.edu	37	chr8	92008941	92008941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaatatatgcacagcagcGtcttcgtggaagtgcactac	11	9	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:92008941G>A	uc003yes.2	-	6	797	c.571C>T	c.(571-573)CGC>TGC	p.R191C		NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	191						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity				0			BRCA - Breast invasive adenocarcinoma(11;0.033)			GCACAGCAGCGTCTTCGTGGA	0.358													A	92008941	G	A	92008941	3	1	20	1	0	0	0	0	1	0	0	0	16178	1145	40	1	210	1	TMEM55A	8	92008941	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	953925	92008941	54355081	912	18583											
TMEM55A	55529	broad.mit.edu	37	chr8	92020972	92020972	+	Splice_Site	DEL	T	T	-													ccaatggtagggaacttacaTttttttgcagtgtgggcatt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:92020971_92020971AT>A	uc003yes.3	-	5	765	c.539_splice	c.e5+1	p.I180_splice		NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	Homo sapiens transmembrane protein 55A (TMEM55A), mRNA.	180						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	p.I180fs*6(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			GGGAACTTACATTTTTTTGCA	0.318													-	92020972	T	-	92020972	8	5	20	1	0	1	0	1	0	0	1	0	16178	1507	52	0	247	0	TMEM55A	8	92020972	Splice_Site	DEL	T	TCGA-BR-4362-01A-01D-1158-08	12031	92020972	54343050	913	18584											
RBM12B	389677	broad.mit.edu	37	chr8	94747757	94747757	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttaaatctctttcgtcaatActgagggacagattttttaa	6	7	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:94747757A>G	uc003yfz.2	-	3	1075	c.882T>C	c.(880-882)AGT>AGC	p.S294S		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	294	RRM 2.						nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTTCGTCAATACTGAGGGACA	0.338													G	94747757	A	G	94747757	2	3	20	1	0	0	0	0	0	0	0	1	13114	388	14	3		3	RBM12B	8	94747757	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2726785	94747757	51616265	914	18585											
CCNE2	9134	broad.mit.edu	37	chr8	95905168	95905168	+	Frame_Shift_Del	DEL	C	C	-													atgataatgcaaggactgatCcccccagataatacaggtgg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:95905167_95905167TC>T	uc003yhc.3	-	4	300	c.196_196GA>A	c.(196-198)atcfs	p.I66fs	CCNE2_uc003yhd.2_Frame_Shift_Del_p.I66fs	NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	66					G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	p.I66fs*8(2)		cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					CAAGGACTGATCCCCCCAGAT	0.308													-	95905168	C	-	95905168	7	5	20	1	0	1	0	1	0	0	0	0	2921	842	30	0	1051	0	CCNE2	8	95905168	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	1157411	95905168	50458854	915	18586											
VPS13B	157680	broad.mit.edu	37	chr8	100147927	100147927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagaaaataatggtactcGcgcagaatttatcttggatt	8	8	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:100147927G>A	uc003yiv.2	+	11	1640	c.1529G>A	c.(1528-1530)CGC>CAC	p.R510H	VPS13B_uc003yiw.2_Missense_Mutation_p.R510H|VPS13B_uc003yit.2_Missense_Mutation_p.R510H|VPS13B_uc003yiu.1_Missense_Mutation_p.R510H|VPS13B_uc003yix.1_5'Flank	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	510					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AATGGTACTCGCGCAGAATTT	0.358													A	100147927	G	A	100147927	3	1	20	1	0	0	0	0	1	0	0	0	17187	1087	38	1	1609	1	VPS13B	8	100147927	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	4242759	100147927	46216095	916	18587											
PABPC1	26986	broad.mit.edu	37	chr8	101721808	101721808	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggttagtgaggtgagccTggcgctcttctttgcgctga	14	9	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:101721808T>C	uc003yjs.1	-	8	1628	c.1124A>G	c.(1123-1125)CAG>CGG	p.Q375R	PABPC1_uc011lhc.1_Missense_Mutation_p.Q343R|PABPC1_uc011lhd.1_Missense_Mutation_p.Q330R|PABPC1_uc003yjt.1_Missense_Mutation_p.Q372R|PABPC1_uc003yju.2_RNA	NM_002568	NP_002559	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	375					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity				0	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GAGGTGAGCCTGGCGCTCTTC	0.493													C	101721808	T	C	101721808	3	2	20	1	0	0	0	0	1	0	0	0	11363	1580	55	3	814	3	PABPC1	8	101721808	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1573881	101721808	44642214	917	18588											
UBR5	51366	broad.mit.edu	37	chr8	103299795	103299795	+	Splice_Site	DEL	A	A	-													ccagctccatatcactccctAaaaaatacatttaaataaga							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:103299794_103299794TA>T	uc003ykr.2	-	37	5281	c.4826_splice	c.e37-1	p.G1609_splice	UBR5_uc003yks.2_Splice_Site_p.G1609_splice	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	1609					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TATCACTCCCTAAAAAATACA	0.403													-	103299795	A	-	103299795	8	5	20	1	0	1	0	1	0	0	1	0	16902	377	13	0		0	UBR5	8	103299795	Splice_Site	DEL	A	TCGA-BR-4362-01A-01D-1158-08	1577987	103299795	43064227	918	18589											
TRHR	7201	broad.mit.edu	37	chr8	110099786	110099786	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaccaaacacagcttcaGccacgagcagtggtggcctt	10	13	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:110099786G>A	uc003ymz.3	+	1	61	c.45G>A	c.(43-45)CAG>CAA	p.Q15Q		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	15	Extracellular (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity			skin(2)|lung(1)	3			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CACAGCTTCAGCCACGAGCAG	0.448													A	110099786	G	A	110099786	2	1	20	1	0	0	0	0	0	0	0	1	16477	962	34	2		2	TRHR	8	110099786	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	6799991	110099786	36264236	919	18590											
SYBU	55638	broad.mit.edu	37	chr8	110587852	110587852	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctaccagtagctccctgtcAgccccttcccccgtgacctg	7	20	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:110587852A>G	uc003ynj.3	-	7	1438	c.1275T>C	c.(1273-1275)GCT>GCC	p.A425A	SYBU_uc003yni.3_Silent_p.A422A|SYBU_uc003ynk.3_Silent_p.A306A|SYBU_uc010mco.2_Silent_p.A424A|SYBU_uc003ynl.3_Silent_p.A424A|SYBU_uc010mcp.2_Silent_p.A425A|SYBU_uc010mcq.2_Silent_p.A425A|SYBU_uc003yno.3_Silent_p.A306A|SYBU_uc010mcr.2_Silent_p.A425A|SYBU_uc003ynm.3_Silent_p.A424A|SYBU_uc003ynn.3_Silent_p.A424A|SYBU_uc010mcs.2_Silent_p.A306A|SYBU_uc010mct.2_Silent_p.A425A|SYBU_uc010mcu.2_Silent_p.A424A|SYBU_uc003ynp.3_Silent_p.A357A|SYBU_uc010mcv.2_Silent_p.A425A|SYBU_uc003ynh.3_Silent_p.A219A|SYBU_uc011lhw.1_Silent_p.A295A	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	425						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						GCTCCCTGTCAGCCCCTTCCC	0.527													G	110587852	A	G	110587852	2	3	20	1	0	0	0	0	0	0	0	1	15424	175	7	3		3	SYBU	8	110587852	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	488066	110587852	35776170	920	18591											
CSMD3	114788	broad.mit.edu	37	chr8	113293501	113293501	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccatgcaggaataaatgActgaactagaaaatgttgtg	9	7	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:113293501A>C	uc003ynu.2	-	59	9569	c.9410T>G	c.(9409-9411)GTC>GGC	p.V3137G	CSMD3_uc003yns.2_Missense_Mutation_p.V2339G|CSMD3_uc003ynt.2_Missense_Mutation_p.V3097G|CSMD3_uc011lhx.1_Missense_Mutation_p.V2968G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3137	Extracellular (Potential).|Sushi 23.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GGAATAAATGACTGAACTAGA	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113293501	A	C	113293501	3	2	20	1	0	0	0	0	1	0	0	0	3946	275	10	5	1765	5	CSMD3	8	113293501	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2705649	113293501	33070521	921	18592											
CSMD3	114788	broad.mit.edu	37	chr8	113694851	113694851	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tattccaggatcagggcattCattatgtccaaatgctttag	8	8	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:113694851C>T	uc003ynu.2	-	16	2656	c.2497G>A	c.(2497-2499)GAA>AAA	p.E833K	CSMD3_uc003yns.2_Missense_Mutation_p.E105K|CSMD3_uc003ynt.2_Missense_Mutation_p.E793K|CSMD3_uc011lhx.1_Missense_Mutation_p.E729K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	833	Sushi 4.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TCAGGGCATTCATTATGTCCA	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113694851	C	T	113694851	3	4	20	1	0	0	0	0	1	0	0	0	3946	835	29	4	8850	4	CSMD3	8	113694851	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	401350	113694851	32669171	922	18593											
TRPS1	7227	broad.mit.edu	37	chr8	116616692	116616692	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgtctctccttctgaacTtttggctagatcattctgat	6	10	4	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:116616692T>G	uc003ynz.2	-	3	1924	c.1465A>C	c.(1465-1467)AGT>CGT	p.S489R	TRPS1_uc011lhy.1_Missense_Mutation_p.S493R|TRPS1_uc003yny.2_Missense_Mutation_p.S502R|TRPS1_uc010mcy.2_Missense_Mutation_p.S489R	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	489					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CCTTCTGAACTTTTGGCTAGA	0.483									Langer-Giedion_syndrome				G	116616692	T	G	116616692	3	3	20	1	0	0	0	0	1	0	0	0	16590	1609	56	5	2396	5	TRPS1	8	116616692	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2921841	116616692	29747330	923	18594											
TRPS1	7227	broad.mit.edu	37	chr8	116616856	116616856	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactacaaaatttacaccagTagtaactggtggcctctgta	7	9	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:116616856T>C	uc003ynz.2	-	3	1760	c.1301A>G	c.(1300-1302)TAC>TGC	p.Y434C	TRPS1_uc011lhy.1_Missense_Mutation_p.Y438C|TRPS1_uc003yny.2_Missense_Mutation_p.Y447C|TRPS1_uc010mcy.2_Missense_Mutation_p.Y434C	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	434					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTACACCAGTAGTAACTGGT	0.473									Langer-Giedion_syndrome				C	116616856	T	C	116616856	3	2	20	1	0	0	0	0	1	0	0	0	16590	1638	57	3	2560	3	TRPS1	8	116616856	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	164	116616856	29747166	924	18595											
RAD21	5885	broad.mit.edu	37	chr8	117859879	117859879	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgttttctgttcgtatttcGacataactcaagcaaactga	6	8	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:117859879G>A	uc003yod.2	-	14	2044	c.1756C>T	c.(1756-1758)CGA>TGA	p.R586*		NM_006265	NP_006256	O60216	RAD21_HUMAN	RAD21 homolog	586					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			lung(1)|skin(1)	2	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TTCGTATTTCGACATAACTCA	0.383													A	117859879	G	A	117859879	4	1	20	1	0	0	0	0	0	1	0	0	12981	1066	37	1	143	1	RAD21	8	117859879	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1243023	117859879	28504143	925	18596											
NOV	4856	broad.mit.edu	37	chr8	120430323	120430323	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagggagataactgtgtgttCgatggggtcatctaccgcag	15	7	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:120430323C>T	uc003yoq.2	+	3	557	c.336C>T	c.(334-336)TTC>TTT	p.F112F		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	112	VWFC.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACTGTGTGTTCGATGGGGTCA	0.483													T	120430323	C	T	120430323	2	4	20	1	0	0	0	0	0	0	0	1	10553	883	31	1		1	NOV	8	120430323	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2570444	120430323	25933699	926	18597											
COL14A1	7373	broad.mit.edu	37	chr8	121259946	121259946	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatcttccccggtgaaaggCtatagaattgtctacaaacc	7	12	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:121259946C>A	uc003yox.2	+	21	2839	c.2574C>A	c.(2572-2574)GGC>GGA	p.G858G	COL14A1_uc003yoy.2_Silent_p.G536G	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	858	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CGGTGAAAGGCTATAGAATTG	0.443													A	121259946	C	A	121259946	2	1	20	1	0	0	0	0	0	0	0	1	3671	784	28	5		5	COL14A1	8	121259946	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	829623	121259946	25104076	927	18598											
SQLE	6713	broad.mit.edu	37	chr8	126015640	126015640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattcctgcagccgggtggtTatcatgttctcaaagacctt	9	10	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:126015640T>C	uc011liq.1	+	2	1440	c.514T>C	c.(514-516)TAT>CAT	p.Y172H		NM_003129	NP_003120	Q14534	ERG1_HUMAN	squalene epoxidase	172					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			ovary(1)|breast(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	GCCGGGTGGTTATCATGTTCT	0.448													C	126015640	T	C	126015640	3	2	20	1	0	0	0	0	1	0	0	0	15127	1754	61	3	520	3	SQLE	8	126015640	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	4755694	126015640	20348382	928	18599											
NSMCE2	286053	broad.mit.edu	37	chr8	126369982	126369985	+	Frame_Shift_Del	DEL	AAGT	AAGT	-													gaagaagccagtgaaaaataAagtgtgtggccacacctatg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:126369981_126369984AAAGT>A	uc003yrw.2	+	6	775_778	c.547_550AAAGT>A	c.(547-552)aaagtgfs	p.K183fs		NM_173685	NP_775956	Q96MF7	NSE2_HUMAN	Homo sapiens non-SMC element 2, MMS21 homolog (S. cerevisiae) (NSMCE2), mRNA.	183					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			AGTGAAAAATAAAGTGTGTGGCCA	0.461													-	126369985	AAGT	-	126369982	7	5	20	1	0	1	0	1	0	0	0	0	10676	14	1	0	566	0	NSMCE2	8	126369982	Frame_Shift_Del	DEL	AAGT	TCGA-BR-4362-01A-01D-1158-08	354342	126369982	19994040	929	18600											
GSDMC	56169	broad.mit.edu	37	chr8	130788386	130788386	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtttggtgatgggatggtAacaatttgaaactcgaggga	15	3	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:130788386A>G	uc003ysr.2	-	3	1248	c.366T>C	c.(364-366)GTT>GTC	p.V122V		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	melanoma-derived leucine zipper, extra-nuclear	122						mitochondrion				ovary(2)|skin(1)	3						ATGGGATGGTAACAATTTGAA	0.493													G	130788386	A	G	130788386	2	3	20	1	0	0	0	0	0	0	0	1	6818	349	13	3		3	GSDMC	8	130788386	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	4418404	130788386	15575636	930	18601											
TG	7038	broad.mit.edu	37	chr8	133881992	133881992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggactgtccagtgccagaaCgacggccgctcctgctggtg	14	13	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:133881992C>T	uc003ytw.2	+	3	236	c.195C>T	c.(193-195)AAC>AAT	p.N65N		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	65	Thyroglobulin type-1 1.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGTGCCAGAACGACGGCCGCT	0.637													T	133881992	C	T	133881992	2	4	20	1	0	0	0	0	0	0	0	1	15810	535	19	1		1	TG	8	133881992	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	3093606	133881992	12482030	931	18602											
WISP1	8840	broad.mit.edu	37	chr8	134225358	134225358	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgactacagcggggaccgCccgaggtacgcaataggagt	15	10	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:134225358C>T	uc003yub.2	+	2	397	c.321C>T	c.(319-321)CGC>CGT	p.R107R	WISP1_uc003yuc.2_Silent_p.R107R|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Silent_p.R107R|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_RNA	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	107	IGFBP N-terminal.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GCGGGGACCGCCCGAGGTACG	0.612													T	134225358	C	T	134225358	2	4	20	1	0	0	0	0	0	0	0	1	17369	726	26	2		2	WISP1	8	134225358	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	343366	134225358	12138664	932	18603											
COL22A1	169044	broad.mit.edu	37	chr8	139833608	139833608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctttcatggcacccacaGcgttgtactcgactgccttg	8	14	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:139833608G>A	uc003yvd.2	-	7	1463	c.1016C>T	c.(1015-1017)GCT>GTT	p.A339V		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	339	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGCACCCACAGCGTTGTACTC	0.567										HNSCC(7;0.00092)			A	139833608	G	A	139833608	3	1	20	1	0	0	0	0	1	0	0	0	3681	971	34	2	4100	2	COL22A1	8	139833608	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	5608250	139833608	6530414	933	18604											
COL22A1	169044	broad.mit.edu	37	chr8	139845316	139845316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagggaaggatcccatccGtacataggaactctgagctc	10	12	1	1	rs141938188		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:139845316G>A	uc003yvd.2	-	5	1258	c.811C>T	c.(811-813)CGG>TGG	p.R271W		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	271	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GATCCCATCCGTACATAGGAA	0.507										HNSCC(7;0.00092)			A	139845316	G	A	139845316	3	1	20	1	0	0	0	0	1	0	0	0	3681	1144	40	1	4313	1	COL22A1	8	139845316	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	11708	139845316	6518706	934	18605											
LYPD2	137797	broad.mit.edu	37	chr8	143833859	143833859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccaggagcgccagccgcGtcccccgcatggtcccggcc	14	20	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:143833859G>A	uc003ywz.2	-	1	94	c.11C>T	c.(10-12)ACG>ATG	p.T4M		NM_205545	NP_991108	Q6UXB3	LYPD2_HUMAN	LY6/PLAUR domain containing 2 precursor	4				T -> A (in Ref. 2; BAF83020).		anchored to membrane|plasma membrane					0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CGCCAGCCGCGTCCCCCGCAT	0.697													A	143833859	G	A	143833859	3	1	20	1	0	0	0	0	1	0	0	0	9110	1145	40	1	378	1	LYPD2	8	143833859	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3988543	143833859	2530163	935	18606											
TOP1MT	116447	broad.mit.edu	37	chr8	144403476	144403476	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccgggtgcagctggacGtgctccacgcggagggaaca	16	13	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:144403476G>A	uc003yxz.2	-	8	1060	c.1041C>T	c.(1039-1041)CAC>CAT	p.H347H	TOP1MT_uc011lkd.1_Silent_p.H249H|TOP1MT_uc011lke.1_Silent_p.H249H|TOP1MT_uc010mfb.2_Silent_p.H249H|TOP1MT_uc011lkf.1_Silent_p.H142H|TOP1MT_uc010mfd.1_Silent_p.H142H	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	347					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GCAGCTGGACGTGCTCCACGC	0.617													A	144403476	G	A	144403476	2	1	20	1	0	0	0	0	0	0	0	1	16361	1136	40	1		1	TOP1MT	8	144403476	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	569617	144403476	1960546	936	18607											
RHPN1	114822	broad.mit.edu	37	chr8	144463474	144463474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagaggccaggatgccacGcctgtcccaggggaaggggc	17	13	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:144463474G>A	uc003yyb.2	+	12	1581	c.1448G>A	c.(1447-1449)CGC>CAC	p.R483H		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	rhophilin 1	508					signal transduction	intracellular				large_intestine(1)	1	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			AGGATGCCACGCCTGTCCCAG	0.627													A	144463474	G	A	144463474	3	1	20	1	0	0	0	0	1	0	0	0	13350	1087	38	1	1494	1	RHPN1	8	144463474	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	59998	144463474	1900548	937	18608											
ZNF623	9831	broad.mit.edu	37	chr8	144732671	144732671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaagcccttcaaatgtgCgcagtgtgggaaggcgtttt	13	7	1	1	rs144210785	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:144732671C>T	uc003yzd.2	+	1	718	c.629C>T	c.(628-630)GCG>GTG	p.A210V	ZNF623_uc011lkp.1_Missense_Mutation_p.A170V|ZNF623_uc003yzc.2_Missense_Mutation_p.A170V	NM_014789	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623 isoform 1	210	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TTCAAATGTGCGCAGTGTGGG	0.473													T	144732671	C	T	144732671	3	4	20	1	0	0	0	0	1	0	0	0	18044	768	27	1	631	1	ZNF623	8	144732671	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	269197	144732671	1631351	938	18609											
MAPK15	225689	broad.mit.edu	37	chr8	144803497	144803497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctgcacaaacccagagccGaccctcagctgccttctagg	8	17	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:144803497G>A	uc003yzj.2	+	11	1161	c.1120G>A	c.(1120-1122)GAC>AAC	p.D374N		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	374					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			lung(2)	2	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACCCAGAGCCGACCCTCAGCT	0.647													A	144803497	G	A	144803497	3	1	20	1	0	0	0	0	1	0	0	0	9277	1058	37	1	1162	1	MAPK15	8	144803497	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	70826	144803497	1560525	939	18610											
MAPK15	225689	broad.mit.edu	37	chr8	144803823	144803823	+	Frame_Shift_Del	DEL	C	C	-													cccctggggcgaaggaagcgCcccccttgacactctcgctg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:144803822_144803822GC>G	uc003yzj.3	+	11	1349	c.1308_1308GC>G	c.(1306-1308)gcgfs	p.A436fs		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	436					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	p.A435fs*57(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CGAAGGAAGCGCCCCCCTTGA	0.647													-	144803823	C	-	144803823	7	5	20	1	0	1	0	1	0	0	0	0	9277	739	26	0	1355	0	MAPK15	8	144803823	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	326	144803823	1560199	940	18611											
FAM83H	286077	broad.mit.edu	37	chr8	144812314	144812314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatggcgcacctgctgggCggaacggatcatcctgcggg	16	11	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:144812314C>T	uc003yzk.2	-	2	508	c.439G>A	c.(439-441)GCC>ACC	p.A147T	FAM83H_uc010mfk.1_5'Flank	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	147					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACCTGCTGGGCGGAACGGATC	0.657													T	144812314	C	T	144812314	3	4	20	1	0	0	0	0	1	0	0	0	5640	768	27	1	3116	1	FAM83H	8	144812314	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	8491	144812314	1551708	941	18612											
PLEC	5339	broad.mit.edu	37	chr8	144993120	144993121	+	In_Frame_Ins	INS	-	-	GAT													ctgtcttctcaatgatctcgINSatgatgatgatgatcatgcg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:144993119_144993120C>CGAT	uc003zaf.1	-	31	11450_11451	c.11280_11281G>ATCG	c.(11278-11283)atcgag>atATCGag	p.E3761S	PLEC_uc003zab.1_In_Frame_Ins_p.E3624S|PLEC_uc003zac.1_In_Frame_Ins_p.E3628S|PLEC_uc003zad.2_In_Frame_Ins_p.E3624S|PLEC_uc003zae.1_In_Frame_Ins_p.E3592S|PLEC_uc003zag.1_In_Frame_Ins_p.E3602S|PLEC_uc003zah.2_In_Frame_Ins_p.E3610S|PLEC_uc003zaj.2_In_Frame_Ins_p.E3651S	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3761	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCAATGATCTCGATGATGATGA	0.614													GAT	144993121	-	GAT	144993120	7	5	20	1	0	1	1	0	0	0	0	0	12052	1048	37	0	2778	0	PLEC	8	144993120	In_Frame_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	180806	144993120	1370902	942	18613											
PLEC	5339	broad.mit.edu	37	chr8	145003396	145003396	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaagaccttctcggcctcGgcagagagccgggcgacccc	13	17	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:145003396G>T	uc003zaf.1	-	25	3716	c.3546C>A	c.(3544-3546)GCC>GCA	p.A1182A	PLEC_uc003zab.1_Silent_p.A1045A|PLEC_uc003zac.1_Silent_p.A1049A|PLEC_uc003zad.2_Silent_p.A1045A|PLEC_uc003zae.1_Silent_p.A1013A|PLEC_uc003zag.1_Silent_p.A1023A|PLEC_uc003zah.2_Silent_p.A1031A|PLEC_uc003zaj.2_Silent_p.A1072A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1182	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TCTCGGCCTCGGCAGAGAGCC	0.682													T	145003396	G	T	145003396	2	4	20	1	0	0	0	0	0	0	0	1	12052	1103	39	5		5	PLEC	8	145003396	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	10276	145003396	1360626	943	18614											
PARP10	84875	broad.mit.edu	37	chr8	145057410	145057410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaagtgccaccaagtggcGggcagcacgggcagggtggg	19	10	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:145057410G>A	uc003zal.3	-	8	2455	c.2347C>T	c.(2347-2349)CGC>TGC	p.R783C	PARP10_uc003zak.3_Missense_Mutation_p.R480C|PARP10_uc011lku.1_Missense_Mutation_p.R795C|PARP10_uc011lkv.1_Intron|PARP10_uc003zam.2_Missense_Mutation_p.R774C	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	783	Myc binding.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCAAGTGGCGGGCAGCACGG	0.657													A	145057410	G	A	145057410	3	1	20	1	0	0	0	0	1	0	0	0	11455	1116	39	1	746	1	PARP10	8	145057410	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	54014	145057410	1306612	944	18615											
SPATC1	375686	broad.mit.edu	37	chr8	145095784	145095784	+	Frame_Shift_Del	DEL	C	C	-													cacccacatcgcccagggtgCcccccatcccccttcccgaa							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:145095783_145095783GC>G	uc011lkw.2	+	2	1183	c.1081_1081GC>G	c.(1081-1083)gccfs	p.A361fs	SPATC1_uc011lkx.2_Frame_Shift_Del_p.A361fs	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	361										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCCCAGGGTGCCCCCCATCC	0.657													-	145095784	C	-	145095784	7	5	20	1	0	1	0	1	0	0	0	0	15016	739	26	0	1092	0	SPATC1	8	145095784	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	38374	145095784	1268238	945	18616											
OPLAH	26873	broad.mit.edu	37	chr8	145111995	145111995	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacgtcagccagggccagcCccagggccgacagcagccca	12	19	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:145111995C>A	uc003zar.3	-	12	1644	c.1562G>T	c.(1561-1563)GGG>GTG	p.G521V	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	521							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CAGGGCCAGCCCCAGGGCCGA	0.677													A	145111995	C	A	145111995	3	1	20	1	0	0	0	0	1	0	0	0	10876	623	22	5	2370	5	OPLAH	8	145111995	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	16211	145111995	1252027	946	18617											
HSF1	3297	broad.mit.edu	37	chr8	145535505	145535505	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccatggcctcccccggCgggagcatagacgagaggtg	15	14	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:145535505C>T	uc003zbt.3	+	8	1013	c.843C>T	c.(841-843)GGC>GGT	p.G281G	HSF1_uc003zbu.3_RNA	NM_005526	NP_005517	Q00613	HSF1_HUMAN	heat shock transcription factor 1	281	Regulatory domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCTCCCCCGGCGGGAGCATAG	0.682													T	145535505	C	T	145535505	2	4	20	1	0	0	0	0	0	0	0	1	7395	755	27	1		1	HSF1	8	145535505	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	423510	145535505	828517	947	18618											
FBXL6	26233	broad.mit.edu	37	chr8	145579704	145579704	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgagcccccaggggtgcTtaagaaggcagccagggcct	16	11	0	2	rs61747069		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:145579704T>C	uc003zcb.2	-	8	1421	c.1396A>G	c.(1396-1398)AGC>GGC	p.S466G	C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Missense_Mutation_p.S193G|FBXL6_uc003zca.2_Missense_Mutation_p.S460G|FBXL6_uc010mfx.2_Missense_Mutation_p.S227G|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6 isoform	466	LRR 10.				proteolysis		ubiquitin-protein ligase activity			ovary(1)|lung(1)	2	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCAGGGGTGCTTAAGAAGGCA	0.607													C	145579704	T	C	145579704	3	2	20	1	0	0	0	0	1	0	0	0	5723	1609	56	3	231	3	FBXL6	8	145579704	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	44199	145579704	784318	948	18619											
FBXL6	26233	broad.mit.edu	37	chr8	145580161	145580161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcgtcccggaggcttggGcagccacatcaggttcaaca	11	15	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:145580161G>A	uc003zcb.2	-	7	1049	c.1024C>T	c.(1024-1026)CCC>TCC	p.P342S	C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Missense_Mutation_p.P69S|FBXL6_uc003zca.2_Missense_Mutation_p.P336S|FBXL6_uc010mfx.2_Missense_Mutation_p.P103S|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6 isoform	342	LRR 6.				proteolysis		ubiquitin-protein ligase activity			ovary(1)|lung(1)	2	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GGAGGCTTGGGCAGCCACATC	0.647													A	145580161	G	A	145580161	3	1	20	1	0	0	0	0	1	0	0	0	5723	1203	42	2	607	2	FBXL6	8	145580161	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	457	145580161	783861	949	18620											
ADCK5	203054	broad.mit.edu	37	chr8	145608327	145608327	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaaggtgctctccaccgcGgtagtgggggcgcccctgct	16	13	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:145608327G>A	uc003zch.2	+	3	216	c.162G>A	c.(160-162)GCG>GCA	p.A54A	ADCK5_uc003zcg.2_RNA	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	54	Helical; (Potential).					integral to membrane	protein serine/threonine kinase activity			stomach(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TCTCCACCGCGGTAGTGGGGG	0.667													A	145608327	G	A	145608327	2	1	20	1	0	0	0	0	0	0	0	1	291	1103	39	1		1	ADCK5	8	145608327	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	28166	145608327	755695	950	18621											
CPSF1	29894	broad.mit.edu	37	chr8	145623932	145623932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatggtggagtcttcccGgctcagaatcaggaatccgt	11	12	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:145623932G>A	uc003zcj.2	-	18	1810	c.1735C>T	c.(1735-1737)CGG>TGG	p.R579W		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	579					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GAGTCTTCCCGGCTCAGAATC	0.677													A	145623932	G	A	145623932	3	1	20	1	0	0	0	0	1	0	0	0	3824	1115	39	1	2680	1	CPSF1	8	145623932	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	15605	145623932	740090	951	18622											
CPSF1	29894	broad.mit.edu	37	chr8	145626214	145626214	+	Splice_Site	DEL	G	G	-													aggaagctggacctctgcctGgggggccaggggcttcagca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:145626213_145626213TG>T	uc003zcj.3	-	7	615	c.540_splice	c.e7-1	p.G180_splice	CPSF1_uc003zck.1_Splice_Site_p.G102_splice|CPSF1_uc011lle.1_Splice_Site_p.G180_splice|CPSF1_uc022bco.1_5'Flank|CPSF1_uc011llf.1_Splice_Site_p.G180_splice	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	180					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GACCTCTGCCTGGGGGGCCAG	0.662													-	145626214	G	-	145626214	8	5	20	1	0	1	0	1	0	0	1	0	3824	1363	47	0		0	CPSF1	8	145626214	Splice_Site	DEL	G	TCGA-BR-4362-01A-01D-1158-08	2282	145626214	737808	952	18623											
NFKBIL2	4796	broad.mit.edu	37	chr8	145662159	145662159	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttcgagtgcggagggtgAcggacgccccccgttcaagc	14	14	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:145662159A>G	uc011llg.1	-	15	1886	c.1871T>C	c.(1870-1872)GTC>GCC	p.V624A	uc011llh.1_RNA	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	624	ANK 3.				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCGGAGGGTGACGGACGCCCC	0.667													G	145662159	A	G	145662159	3	3	20	1	0	0	0	0	1	0	0	0	10382	275	10	3	2313	3	NFKBIL2	8	145662159	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	35945	145662159	701863	953	18624											
DOCK8	81704	broad.mit.edu	37	chr9	376262	376262	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaaggacataagggagTatttaatattgaagtgcaag	13	3	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:376262T>C	uc003zgf.2	+	19	2274	c.2162T>C	c.(2161-2163)GTA>GCA	p.V721A	DOCK8_uc010mgu.2_Missense_Mutation_p.V23A|DOCK8_uc010mgv.2_Missense_Mutation_p.V653A|DOCK8_uc010mgw.1_Missense_Mutation_p.V23A|DOCK8_uc003zgk.2_Missense_Mutation_p.V179A|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	721					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CATAAGGGAGTATTTAATATT	0.398													C	376262	T	C	376262	3	2	20	1	0	0	0	0	1	0	0	0	4693	1638	57	3	2236	3	DOCK8	9	376262	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08		376262	140837169	954	18625											
KANK1	23189	broad.mit.edu	37	chr9	711731	711731	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgtggtgtgaggaagcGgtcctatagtgcggggaacg	18	6	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:711731G>T	uc003zgl.1	+	7	1614	c.965G>T	c.(964-966)CGG>CTG	p.R322L	KANK1_uc003zgm.2_Missense_Mutation_p.R322L|KANK1_uc003zgn.1_Missense_Mutation_p.R322L|KANK1_uc003zgo.1_Missense_Mutation_p.R322L|KANK1_uc003zgp.1_Missense_Mutation_p.R322L|KANK1_uc003zgq.2_Missense_Mutation_p.R164L|KANK1_uc003zgr.1_Missense_Mutation_p.R164L|KANK1_uc003zgs.1_Missense_Mutation_p.R164L	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	322					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GTGAGGAAGCGGTCCTATAGT	0.517													T	711731	G	T	711731	3	4	20	1	0	0	0	0	1	0	0	0	7976	1116	39	5	971	5	KANK1	9	711731	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	335469	711731	140501700	955	18626											
GLIS3	169792	broad.mit.edu	37	chr9	3829471	3829471	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtgtgggggacagaacTtctgcagctgcccataaaat	13	8	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:3829471T>G	uc003zhw.1	-	9	2224	c.2030A>C	c.(2029-2031)AAG>ACG	p.K677T	GLIS3_uc003zhx.1_Missense_Mutation_p.K832T|GLIS3_uc010mhf.1_Missense_Mutation_p.K226T|GLIS3_uc003zhv.1_RNA	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	677					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GGGACAGAACTTCTGCAGCTG	0.532													G	3829471	T	G	3829471	3	3	20	1	0	0	0	0	1	0	0	0	6447	1609	56	5	305	5	GLIS3	9	3829471	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3117740	3829471	137383960	956	18627											
INSL6	11172	broad.mit.edu	37	chr9	5185339	5185339	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgcctcttccccgggcCggggaagcggtttgcgggct	16	12	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:5185339C>T	uc003zix.2	-	1	280	c.264G>A	c.(262-264)CCG>CCA	p.P88P		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	insulin-like 6 precursor	88						extracellular region	hormone activity				0	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		TTCCCCGGGCCGGGGAAGCGG	0.527													T	5185339	C	T	5185339	2	4	20	1	0	0	0	0	0	0	0	1	7770	639	23	1		1	INSL6	9	5185339	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1355868	5185339	136028092	957	18628											
CD274	29126	broad.mit.edu	37	chr9	5467858	5467858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatacacatttggaggagaCgtaatccagcattggaactt	10	7	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:5467858C>T	uc003zje.2	+	7	921	c.869C>T	c.(868-870)ACG>ATG	p.T290M	C9orf46_uc003zjd.2_Intron|CD274_uc010mhn.2_RNA|CD274_uc003zjf.2_Missense_Mutation_p.T176M	NM_014143	NP_054862	Q9NZQ7	PD1L1_HUMAN	CD274 molecule precursor	290	Cytoplasmic (Potential).				cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity			lung(1)|central_nervous_system(1)	2	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		TTGGAGGAGACGTAATCCAGC	0.423			T	CIITA	PMBL|Hodgkin Lymphona|								T	5467858	C	T	5467858	3	4	20	1	0	0	0	0	1	0	0	0	2991	536	19	1	891	1	CD274	9	5467858	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	282519	5467858	135745573	958	18629											
UHRF2	115426	broad.mit.edu	37	chr9	6498070	6498070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggattcttggtttggcGctatcttttaagaagagatg	11	6	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:6498070G>A	uc003zjy.2	+	12	2160	c.1820G>A	c.(1819-1821)CGC>CAC	p.R607H	UHRF2_uc003zjz.2_RNA|UHRF2_uc003zkb.2_RNA	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains	607	YDG.|Methyl-CpG binding and interaction with HDAC1.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		TTGGTTTGGCGCTATCTTTTA	0.383													A	6498070	G	A	6498070	3	1	20	1	0	0	0	0	1	0	0	0	16967	1087	38	1	1866	1	UHRF2	9	6498070	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1030212	6498070	134715361	959	18630											
GLDC	2731	broad.mit.edu	37	chr9	6605272	6605272	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagctcagtgaggactccAgtatatctggaaagacagac	10	9	3	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:6605272A>G	uc003zkc.2	-	6	913	c.720T>C	c.(718-720)ACT>ACC	p.T240T		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	240					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGAGGACTCCAGTATATCTGG	0.423													G	6605272	A	G	6605272	2	3	20	1	0	0	0	0	0	0	0	1	6433	175	7	3		3	GLDC	9	6605272	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	107202	6605272	134608159	960	18631											
KDM4C	23081	broad.mit.edu	37	chr9	7013988	7013988	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtgcaaagtgctgcgtAcgggttcatgcaagtaaatg	12	8	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:7013988A>G	uc003zkh.2	+	14	2749	c.2169A>G	c.(2167-2169)GTA>GTG	p.V723V	KDM4C_uc010mhu.2_Silent_p.V745V|KDM4C_uc011lmi.1_Silent_p.V723V|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Silent_p.V723V|KDM4C_uc011lmk.1_Silent_p.V468V|KDM4C_uc011lml.1_Silent_p.V410V	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	723	PHD-type 1.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1						AGTGCTGCGTACGGGTTCATG	0.368													G	7013988	A	G	7013988	2	3	20	1	0	0	0	0	0	0	0	1	8130	378	14	3		3	KDM4C	9	7013988	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	408716	7013988	134199443	961	18632											
MPDZ	8777	broad.mit.edu	37	chr9	13110649	13110649	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttacctgcatttcaatggAgccagatgcatttttcagta	7	9	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:13110649A>G	uc010mhy.2	-	42	5779	c.5728T>C	c.(5728-5730)TCC>CCC	p.S1910P	MPDZ_uc003zkx.3_Missense_Mutation_p.S134P|MPDZ_uc003zky.3_Missense_Mutation_p.S473P|MPDZ_uc010mib.2_Missense_Mutation_p.S644P|MPDZ_uc010mhx.2_Missense_Mutation_p.S761P|MPDZ_uc011lmm.1_Missense_Mutation_p.S798P|MPDZ_uc003zkz.3_Missense_Mutation_p.S632P|MPDZ_uc010mhz.2_Missense_Mutation_p.S1906P|MPDZ_uc011lmn.1_Missense_Mutation_p.S1877P|MPDZ_uc003zlb.3_Missense_Mutation_p.S1910P	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1939	PDZ 12.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		ATTTCAATGGAGCCAGATGCA	0.418													G	13110649	A	G	13110649	3	3	20	1	0	0	0	0	1	0	0	0	9722	304	11	3	413	3	MPDZ	9	13110649	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	6096661	13110649	128102782	962	18633											
MPDZ	8777	broad.mit.edu	37	chr9	13221391	13221391	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgatcagctactcctccagGcagaatggtttttactatca	7	11	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:13221391G>T	uc010mia.1	-	6	913	c.856C>A	c.(856-858)CCT>ACT	p.P286T	MPDZ_uc010mhy.2_Missense_Mutation_p.P286T|MPDZ_uc010mhz.2_Missense_Mutation_p.P286T|MPDZ_uc011lmn.1_Missense_Mutation_p.P286T|MPDZ_uc003zlb.3_Missense_Mutation_p.P286T	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	286	PDZ 2.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		ACTCCTCCAGGCAGAATGGTT	0.368													T	13221391	G	T	13221391	3	4	20	1	0	0	0	0	1	0	0	0	9722	1203	42	5	5429	5	MPDZ	9	13221391	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	110742	13221391	127992040	963	18634											
CNTLN	54875	broad.mit.edu	37	chr9	17484353	17484353	+	Frame_Shift_Del	DEL	A	A	-													ggcgacaaataagagagcttAaaaaaatgaagaaaaacagg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:17484352_17484352TA>T	uc003zmz.2	+	23	3938	c.3912_3912TA>T	c.(3910-3912)cttfs	p.L1304fs	CNTLN_uc003zmy.3_Frame_Shift_Del_p.L1305fs|CNTLN_uc010mio.3_Frame_Shift_Del_p.L984fs	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	1305						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TAAGAGAGCTTAAAAAAATGA	0.398													-	17484353	A	-	17484353	7	5	20	1	0	1	0	1	0	0	0	0	3639	363	13	0	4040	0	CNTLN	9	17484353	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	4262962	17484353	123729078	964	18635											
SH3GL2	6456	broad.mit.edu	37	chr9	17795624	17795624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttgggatttaaagagggCgatatcatcacactcactaa	10	7	3	1	rs146755876		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:17795624C>T	uc003zna.2	+	9	1230	c.942C>T	c.(940-942)GGC>GGT	p.G314G	SH3GL2_uc011lmy.1_Silent_p.G267G	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	314	SH3.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			skin(1)	1				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TTAAAGAGGGCGATATCATCA	0.478													T	17795624	C	T	17795624	2	4	20	1	0	0	0	0	0	0	0	1	14251	755	27	1		1	SH3GL2	9	17795624	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	311271	17795624	123417807	965	18636											
FAM154A	158297	broad.mit.edu	37	chr9	18928326	18928326	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacagcttttggtattgatAggcaggtggggcacatagtg	14	5	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:18928326A>G	uc003zni.1	-	4	1427	c.1149T>C	c.(1147-1149)CCT>CCC	p.P383P	FAM154A_uc010mip.1_Silent_p.P191P	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	hypothetical protein LOC158297	383										pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.53e-16)		TGGTATTGATAGGCAGGTGGG	0.582													G	18928326	A	G	18928326	2	3	20	1	0	0	0	0	0	0	0	1	5463	407	15	3		3	FAM154A	9	18928326	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1132702	18928326	122285105	966	18637											
IFNA17	3451	broad.mit.edu	37	chr9	21227953	21227953	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggacagagatggcttgagTcttctggaactggttgccat	14	7	2	2	rs150705157	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:21227953T>C	uc003zos.1	-	1	269	c.220A>G	c.(220-222)ACT>GCT	p.T74A	IFNA14_uc003zoo.1_Intron	NM_021268	NP_067091	P01571	IFN17_HUMAN	interferon, alpha 17 precursor	74					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding				0				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ATGGCTTGAGTCTTCTGGAAC	0.502													C	21227953	T	C	21227953	3	2	20	1	0	0	0	0	1	0	0	0	7536	1667	58	3	353	3	IFNA17	9	21227953	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2299627	21227953	119985478	967	18638											
CDKN2A	1029	broad.mit.edu	37	chr9	21970967	21970967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccccccgcagccgcgcGcaggtaccgtgcgacatcgc	14	18	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:21970967G>A	uc003zpk.2	-	2	603	c.391C>T	c.(391-393)CGC>TGC	p.R131C	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	131	ANK 4.				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(13)|p.R131H(4)|p.R128fs*12(3)|p.R128fs*9(2)|p.R131R(2)|p.R131L(1)|p.A118fs*10(1)|p.R131C(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCCGCGCGCAGGTACCGT	0.682		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			A	21970967	G	A	21970967	3	1	20	1	0	0	0	0	1	0	0	0	3161	1087	38	1	87	1	CDKN2A	9	21970967	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	743014	21970967	119242464	968	18639											
TEK	7010	broad.mit.edu	37	chr9	27206671	27206671	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctacaatttatccagtgcTtgactggaatgacatcaaat	6	9	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:27206671T>C	uc003zqi.3	+	15	2898	c.2456T>C	c.(2455-2457)CTT>CCT	p.L819P	TEK_uc011lno.1_Missense_Mutation_p.L776P|TEK_uc011lnp.1_Missense_Mutation_p.L671P|TEK_uc003zqj.1_Missense_Mutation_p.L753P	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	819	Cytoplasmic (Potential).				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TATCCAGTGCTTGACTGGAAT	0.463													C	27206671	T	C	27206671	3	2	20	1	0	0	0	0	1	0	0	0	15748	1609	56	3	2514	3	TEK	9	27206671	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	5235704	27206671	114006760	969	18640											
TEK	7010	broad.mit.edu	37	chr9	27229174	27229174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacctacgtgaataccacgCtttatgagaagtttacttat	7	8	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:27229174C>T	uc003zqi.3	+	23	3761	c.3319C>T	c.(3319-3321)CTT>TTT	p.L1107F	TEK_uc011lno.1_Missense_Mutation_p.L1064F|TEK_uc011lnp.1_Missense_Mutation_p.L959F	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	1107	Cytoplasmic (Potential).				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GAATACCACGCTTTATGAGAA	0.458													T	27229174	C	T	27229174	3	4	20	1	0	0	0	0	1	0	0	0	15748	797	28	2	3409	2	TEK	9	27229174	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	22503	27229174	113984257	970	18641											
C9orf11	54586	broad.mit.edu	37	chr9	27296739	27296739	+	Splice_Site	DEL	A	A	-													gtagcacattaggcaatgctAaaaaaaagtatcacacacca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:27296738_27296738TA>T	uc003zql.3	-	2	161	c.77_splice	c.e2-1	p.A26_splice	C9orf11_uc011lnq.2_Splice_Site_p.A26_splice|C9orf11_uc003zqm.3_Splice_Site_p.A26_splice	NM_020641	NP_065692	Q9NQ60	AFAF_HUMAN	Homo sapiens chromosome 9 open reading frame 11 (C9orf11), transcript variant 1, mRNA.	26						acrosomal membrane|integral to membrane				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	17				OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106)		TAGGCAATGCTAAAAAAAAGT	0.323													-	27296739	A	-	27296739	8	5	20	1	0	1	0	1	0	0	1	0	2448	377	13	0		0	C9orf11	9	27296739	Splice_Site	DEL	A	TCGA-BR-4362-01A-01D-1158-08	67565	27296739	113916692	971	18642											
LINGO2	158038	broad.mit.edu	37	chr9	27949193	27949193	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttaaggaggctgtgaaggTatcattcccagcagcattgc	12	8	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:27949193T>C	uc003zqu.1	-	2	1671	c.1477A>G	c.(1477-1479)ACC>GCC	p.T493A	LINGO2_uc010mjf.1_Missense_Mutation_p.T493A|LINGO2_uc003zqv.1_Missense_Mutation_p.T493A	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	493	Ig-like C2-type.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCTGTGAAGGTATCATTCCCA	0.493													C	27949193	T	C	27949193	3	2	20	1	0	0	0	0	1	0	0	0	8815	1638	57	3	347	3	LINGO2	9	27949193	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	652454	27949193	113264238	972	18643											
DDX58	23586	broad.mit.edu	37	chr9	32466435	32466435	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctacctcttgctcttccTctgcctattagaaaataaat	4	11	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:32466435T>C	uc003zra.2	-	16	2348	c.2190A>G	c.(2188-2190)AGA>AGG	p.R730R	DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Silent_p.R685R|DDX58_uc011lnr.1_Missense_Mutation_p.E526G|DDX58_uc010mji.2_Silent_p.R659R	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	730	Helicase C-terminal.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TTGCTCTTCCTCTGCCTATTA	0.313													C	32466435	T	C	32466435	2	2	20	1	0	0	0	0	0	0	0	1	4375	1548	54	3		3	DDX58	9	32466435	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	4517242	32466435	108746996	973	18644											
TOPORS	10210	broad.mit.edu	37	chr9	32543953	32543953	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactaggtgaatacacagaAgcatttcgttcccttgtcag	8	11	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:32543953A>G	uc003zrb.2	-	3	737	c.570T>C	c.(568-570)GCT>GCC	p.A190A	TOPORS_uc003zrc.2_Silent_p.A123A	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	190	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AATACACAGAAGCATTTCGTT	0.453													G	32543953	A	G	32543953	2	3	20	1	0	0	0	0	0	0	0	1	16367	59	3	3		3	TOPORS	9	32543953	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	77518	32543953	108669478	974	18645											
TAF1L	138474	broad.mit.edu	37	chr9	32630337	32630337	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtacagttccttcctcTtcatctgcaagatcaccatc	5	13	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:32630337T>A	uc003zrg.1	-	1	5331	c.5241A>T	c.(5239-5241)GAA>GAT	p.E1747D		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1747					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTCCTTCCTCTTCATCTGCAA	0.483													A	32630337	T	A	32630337	3	1	20	1	0	0	0	0	1	0	0	0	15520	1606	56	5	243	5	TAF1L	9	32630337	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	86384	32630337	108583094	975	18646											
TAF1L	138474	broad.mit.edu	37	chr9	32633584	32633585	+	Frame_Shift_Ins	INS	-	-	T													ttgttctctcatcttggcctINStttttttgatgtgctttagc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:32633583_32633584C>CT	uc003zrg.1	-	0	2084_2085	c.1994_1995G>AG	c.(1993-1995)aagfs	p.K665fs	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	665					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.K665fs*4(4)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCATCTTGGCCTTTTTTTTGAT	0.48													T	32633585	-	T	32633584	7	5	20	1	0	1	1	0	0	0	0	0	15520	1609	56	0	3490	0	TAF1L	9	32633584	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	3247	32633584	108579847	976	18647											
NFX1	4799	broad.mit.edu	37	chr9	33295421	33295421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaagaatgtggaaacgcaCacaggtaaacctacctagat	8	9	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:33295421C>T	uc003zsq.2	+	2	1090	c.1029C>T	c.(1027-1029)CAC>CAT	p.H343H	SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Silent_p.H343H|NFX1_uc003zso.2_Silent_p.H343H|NFX1_uc003zsp.1_Silent_p.H343H|NFX1_uc010mjr.1_Silent_p.H343H|NFX1_uc003zsr.2_Silent_p.H343H	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	343					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TGGAAACGCACACAGGTAAAC	0.358													T	33295421	C	T	33295421	2	4	20	1	0	0	0	0	0	0	0	1	10387	477	17	4		4	NFX1	9	33295421	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	661837	33295421	107918010	977	18648											
NFX1	4799	broad.mit.edu	37	chr9	33318813	33318813	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttggggatttcagctgttTaaagatatgtggcaagtaag	12	3	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:33318813T>C	uc003zsq.2	+	8	1734	c.1673T>C	c.(1672-1674)TTA>TCA	p.L558S	SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Missense_Mutation_p.L558S|NFX1_uc003zso.2_Missense_Mutation_p.L558S|NFX1_uc003zsp.1_Missense_Mutation_p.L558S|NFX1_uc010mjr.1_Missense_Mutation_p.L558S|NFX1_uc003zsr.2_Missense_Mutation_p.L558S	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	558					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TTCAGCTGTTTAAAGATATGT	0.383													C	33318813	T	C	33318813	3	2	20	1	0	0	0	0	1	0	0	0	10387	1764	61	3	1703	3	NFX1	9	33318813	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	23392	33318813	107894618	978	18649											
NOL6	65083	broad.mit.edu	37	chr9	33466161	33466161	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcagctggaaggcagctcGgacccgctgcacggcctcag	15	15	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:33466161G>A	uc003zsz.2	-	18	2373	c.2272C>T	c.(2272-2274)CGA>TGA	p.R758*	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Nonsense_Mutation_p.R755*|NOL6_uc011lob.1_Nonsense_Mutation_p.R706*|NOL6_uc003ztb.1_Nonsense_Mutation_p.R758*	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	758					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AAGGCAGCTCGGACCCGCTGC	0.612													A	33466161	G	A	33466161	4	1	20	1	0	0	0	0	0	1	0	0	10525	1124	39	1	1204	1	NOL6	9	33466161	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	147348	33466161	107747270	979	18650											
UBAP2	55833	broad.mit.edu	37	chr9	33944640	33944640	+	Splice_Site	DEL	A	A	-													caggttgagatttgaagtctAaaaaaagtaagcagcaatta							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:33944639_33944639TA>T	uc003ztq.1	-	14	1384	c.1271_splice	c.e14-1	p.D424_splice	UBAP2_uc011loc.1_Splice_Site_p.D333_splice|UBAP2_uc011lod.1_Splice_Site_p.D157_splice|UBAP2_uc011loe.1_Splice_Site_p.D179_splice|UBAP2_uc011lof.1_Splice_Site_p.D349_splice|UBAP2_uc011log.1_Splice_Site_p.D370_splice|UBAP2_uc003ztr.2_Splice_Site_p.D296_splice|UBAP2_uc003zts.3_Splice_Site_p.D57_splice	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	424										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ATTTGAAGTCTAAAAAAAGTA	0.438													-	33944640	A	-	33944640	8	5	20	1	0	1	0	1	0	0	1	0	16834	377	13	0		0	UBAP2	9	33944640	Splice_Site	DEL	A	TCGA-BR-4362-01A-01D-1158-08	478479	33944640	107268791	980	18651											
VCP	7415	broad.mit.edu	37	chr9	35065361	35065361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagcacgcatcccaccacGgacaagaaaaatgtctcctg	7	15	1	1	rs121909330		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:35065361G>A	uc003zvy.2	-	5	852	c.463C>T	c.(463-465)CGT>TGT	p.R155C	VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_Missense_Mutation_p.R110C	NM_007126	NP_009057	P55072	TERA_HUMAN	valosin-containing protein	155			R -> C (in IBMPFD; also in one patient without evidence of Paget disease of the bone).|R -> H (in IBMPFD; strongly reduced affinity for ADP and increased affinity for ATP).|R -> P (in IBMPFD).		activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			upper_aerodigestive_tract(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATCCCACCACGGACAAGAAAA	0.493													A	35065361	G	A	35065361	3	1	20	1	0	0	0	0	1	0	0	0	17137	1116	39	1	2009	1	VCP	9	35065361	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1120721	35065361	106148070	981	18652											
TLN1	7094	broad.mit.edu	37	chr9	35719097	35719097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggctggttgggcactgcGcagcagttctgacactgctc	13	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:35719097G>A	uc003zxt.2	-	16	2224	c.1870C>T	c.(1870-1872)CGC>TGC	p.R624C		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	624					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGGCACTGCGCAGCAGTTCT	0.637													A	35719097	G	A	35719097	3	1	20	1	0	0	0	0	1	0	0	0	15944	1087	38	1	5923	1	TLN1	9	35719097	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	653736	35719097	105494334	982	18653											
OR13J1	392309	broad.mit.edu	37	chr9	35869832	35869832	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgaccgacgtgttgccGcatgccagcttcagcactgc	11	15	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:35869832G>A	uc011lph.1	-	1	567	c.567C>T	c.(565-567)TGC>TGT	p.C189C		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J,	189	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			ACGTGTTGCCGCATGCCAGCT	0.597													A	35869832	G	A	35869832	2	1	20	1	0	0	0	0	0	0	0	1	10944	1079	38	1		1	OR13J1	9	35869832	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	150735	35869832	105343599	983	18654											
RNF38	152006	broad.mit.edu	37	chr9	36369774	36369774	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgagcagcaggatgtAgcagacggggagatacattc	16	6	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:36369774A>G	uc003zzh.2	-	4	703	c.512T>C	c.(511-513)CTA>CCA	p.L171P	RNF38_uc003zzi.2_Missense_Mutation_p.L121P|RNF38_uc003zzj.2_Missense_Mutation_p.L88P|RNF38_uc003zzk.2_Missense_Mutation_p.L88P|RNF38_uc003zzl.2_Missense_Mutation_p.L95P|RNF38_uc003zzm.2_Missense_Mutation_p.L88P	NM_022781	NP_073618	Q9H0F5	RNF38_HUMAN	ring finger protein 38 isoform 1	171							zinc ion binding			central_nervous_system(1)	1			STAD - Stomach adenocarcinoma(86;0.228)			AGCAGGATGTAGCAGACGGGG	0.463													G	36369774	A	G	36369774	3	3	20	1	0	0	0	0	1	0	0	0	13490	420	15	3	1071	3	RNF38	9	36369774	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	499942	36369774	104843657	984	18655											
POLR1E	64425	broad.mit.edu	37	chr9	37493650	37493650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaatgaatctttgaatcGtgcagtggctaaagctgcag	12	7	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:37493650G>A	uc003zzz.1	+	5	971	c.683G>A	c.(682-684)CGT>CAT	p.R228H	POLR1E_uc011lqj.1_Intron|POLR1E_uc003zzy.1_Missense_Mutation_p.R166H|POLR1E_uc011lqk.1_Missense_Mutation_p.R95H	NM_022490	NP_071935	Q9GZS1	RPA49_HUMAN	RNA polymerase I associated factor 53	228					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding				0				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		TCTTTGAATCGTGCAGTGGCT	0.443													A	37493650	G	A	37493650	3	1	20	1	0	0	0	0	1	0	0	0	12213	1145	40	1	519	1	POLR1E	9	37493650	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1123876	37493650	103719781	985	18656											
FRMPD1	22844	broad.mit.edu	37	chr9	37744582	37744582	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactacacctctcaggtctcAtttcccctggtgccatcagc	7	16	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:37744582A>G	uc004aag.1	+	16	2597	c.2553A>G	c.(2551-2553)TCA>TCG	p.S851S	FRMPD1_uc004aah.1_Silent_p.S851S	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	851						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		CTCAGGTCTCATTTCCCCTGG	0.557													G	37744582	A	G	37744582	2	3	20	1	0	0	0	0	0	0	0	1	6057	204	8	3		3	FRMPD1	9	37744582	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	250932	37744582	103468849	986	18657											
PGM5	5239	broad.mit.edu	37	chr9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattattggacagaatggcAtcttgtcgacacctgcggtc	11	9	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478													G	70993145	A	G	70993145	3	3	20	1	0	0	0	0	1	0	0	0	11801	217	8	3	298	3	PGM5	9	70993145	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	33248563	70993145	70220286	987	18658											
TJP2	9414	broad.mit.edu	37	chr9	71836092	71836092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggaccaagaccatgcgcGcacccgagaccgcagccgtg	12	17	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:71836092G>A	uc004ahe.2	+	5	832	c.632G>A	c.(631-633)CGC>CAC	p.R211H	TJP2_uc011lrs.1_Missense_Mutation_p.R188H|TJP2_uc004ahb.1_Missense_Mutation_p.R188H|TJP2_uc011lrt.1_Missense_Mutation_p.R188H|TJP2_uc004ahd.2_Missense_Mutation_p.R211H|TJP2_uc004ahf.2_Missense_Mutation_p.R211H|TJP2_uc011lru.1_Missense_Mutation_p.R215H|TJP2_uc011lrv.1_Missense_Mutation_p.R233H	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	211					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						GACCATGCGCGCACCCGAGAC	0.776													A	71836092	G	A	71836092	3	1	20	1	0	0	0	0	1	0	0	0	15927	1087	38	1	807	1	TJP2	9	71836092	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	842947	71836092	69377339	988	18659											
TRPM3	80036	broad.mit.edu	37	chr9	73152166	73152166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggattttgttggactcgGcccgctccagacctgtcagg	13	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:73152166G>A	uc004aid.2	-	25	4071	c.3827C>T	c.(3826-3828)GCC>GTC	p.A1276V	TRPM3_uc004ahu.2_Missense_Mutation_p.A1118V|TRPM3_uc004ahv.2_Missense_Mutation_p.A1078V|TRPM3_uc004ahw.2_Missense_Mutation_p.A1148V|TRPM3_uc004ahx.2_Missense_Mutation_p.A1135V|TRPM3_uc004ahy.2_Missense_Mutation_p.A1138V|TRPM3_uc004ahz.2_Missense_Mutation_p.A1125V|TRPM3_uc004aia.2_Missense_Mutation_p.A1123V|TRPM3_uc004aib.2_Missense_Mutation_p.A1113V|TRPM3_uc004aic.2_Missense_Mutation_p.A1276V	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1301	Cytoplasmic (Potential).|Potential.					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						GTTGGACTCGGCCCGCTCCAG	0.627													A	73152166	G	A	73152166	3	1	20	1	0	0	0	0	1	0	0	0	16584	1203	42	2	1300	2	TRPM3	9	73152166	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1316074	73152166	68061265	989	18660											
TMEM2	23670	broad.mit.edu	37	chr9	74332975	74332975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtggtttttcggggtttGcatcctgatgaggtcgaaat	13	7	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:74332975G>A	uc011lsa.1	-	13	2828	c.2288C>T	c.(2287-2289)GCA>GTA	p.A763V	TMEM2_uc010mos.2_Missense_Mutation_p.A700V|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	763						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TTCGGGGTTTGCATCCTGATG	0.348													A	74332975	G	A	74332975	3	1	20	1	0	0	0	0	1	0	0	0	16118	1319	46	2	1911	2	TMEM2	9	74332975	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1180809	74332975	66880456	990	18661											
ALDH1A1	216	broad.mit.edu	37	chr9	75542080	75542080	+	Frame_Shift_Del	DEL	A	A	-													ggttcatgtcttgtatatgtAaaaaaatttccatctgaaaa							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:75542079_75542079TA>T	uc004ajd.3	-	4	774	c.457_457TA>A	c.(457-459)acafs	p.T153fs	ALDH1A1_uc011lsh.2_Frame_Shift_Del_p.T74fs|ALDH1A1_uc011lsg.2_5'Flank	NM_000689	NP_000680	P00352	AL1A1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), mRNA.	153					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	Ras GTPase activator activity|aldehyde dehydrogenase (NAD) activity|androgen binding|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CTTGTATATGTAAAAAAATTT	0.299													-	75542080	A	-	75542080	7	5	20	1	0	1	0	1	0	0	0	0	490	359	13	0	1085	0	ALDH1A1	9	75542080	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	1209105	75542080	65671351	991	18662											
RORB	6096	broad.mit.edu	37	chr9	77300472	77300472	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcatccagagatagtgaatAcactgtttcctccgttatac	6	11	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:77300472A>G	uc004aji.2	+	10	1400	c.1351A>G	c.(1351-1353)ACA>GCA	p.T451A	RORB_uc004ajh.2_Missense_Mutation_p.T440A	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	451	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						GATAGTGAATACACTGTTTCC	0.458													G	77300472	A	G	77300472	3	3	20	1	0	0	0	0	1	0	0	0	13529	391	14	3	1356	3	RORB	9	77300472	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1758392	77300472	63912959	992	18663											
PRUNE2	158471	broad.mit.edu	37	chr9	79267523	79267525	+	In_Frame_Del	DEL	AGA	AGA	-													gatccttcactttggtccagAgaaagattgatatttggggc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:79267522_79267524GAGA>G	uc010mpk.3	-	10	8556_8558	c.8432_8434TCTC>C	c.(8431-8436)tctctg>tCtg	p.L2812del	PRUNE2_uc011lsk.2_In_Frame_Del_p.L61del|PRUNE2_uc011lsl.2_In_Frame_Del_p.L76del|PRUNE2_uc011lsm.2_In_Frame_Del_p.L76del|PRUNE2_uc004akj.4_In_Frame_Del_p.L265del|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_In_Frame_Del_p.L265del	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2812					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTTGGTCCAGAGAAAGATTGAT	0.414													-	79267525	AGA	-	79267523	7	5	20	1	0	1	0	1	0	0	0	0	12641	291	11	0	869	0	PRUNE2	9	79267523	In_Frame_Del	DEL	AGA	TCGA-BR-4362-01A-01D-1158-08	1967051	79267523	61945908	993	18664											
FOXB2	442425	broad.mit.edu	37	chr9	79635851	79635851	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggcggctccttgcactcGgtgctagtgcactcctaggg	14	12	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:79635851G>A	uc004ako.1	+	1	1281	c.1281G>A	c.(1279-1281)TCG>TCA	p.S427S		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	427					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						CCTTGCACTCGGTGCTAGTGC	0.726													A	79635851	G	A	79635851	2	1	20	1	0	0	0	0	0	0	0	1	5993	1103	39	1		1	FOXB2	9	79635851	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	368328	79635851	61577580	994	18665											
VPS13A	23230	broad.mit.edu	37	chr9	79875051	79875052	+	Frame_Shift_Ins	INS	-	-	A													ttctttacgaatctcagataINSaaaaactacaagggattatg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:79875050_79875051T>TA	uc004akr.3	+	22	2597_2598	c.2337_2338T>TA	c.(2335-2340)gataaafs	p.D779fs	VPS13A_uc004akp.4_Frame_Shift_Ins_p.D779fs|VPS13A_uc004akq.4_Frame_Shift_Ins_p.D779fs|VPS13A_uc004aks.3_Frame_Shift_Ins_p.D779fs	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	779					Golgi to endosome transport|protein transport	intracellular	protein binding	p.D779H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAATCTCAGATAAAAAACTACA	0.297													A	79875052	-	A	79875051	7	5	20	1	0	1	1	0	0	0	0	0	17186	363	13	0	2428	0	VPS13A	9	79875051	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	239200	79875051	61338380	995	18666											
TLE4	7091	broad.mit.edu	37	chr9	82321726	82321726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatggcctagacaagacacGcctgctcaagaaagatgccc	10	12	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:82321726G>A	uc004ald.2	+	11	1676	c.827G>A	c.(826-828)CGC>CAC	p.R276H	TLE4_uc004alc.2_Missense_Mutation_p.R283H|TLE4_uc010mpr.2_Missense_Mutation_p.R162H|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Missense_Mutation_p.R251H|TLE4_uc010mps.2_Intron|TLE4_uc004alf.2_Missense_Mutation_p.R222H	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						GACAAGACACGCCTGCTCAAG	0.517													A	82321726	G	A	82321726	3	1	20	1	0	0	0	0	1	0	0	0	15938	1087	38	1	890	1	TLE4	9	82321726	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2446675	82321726	58891705	996	18667											
TLE1	7088	broad.mit.edu	37	chr9	84225140	84225140	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttgaggtacttacggtttCcccccagggattcctgccag	10	13	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:84225140C>T	uc004aly.2	-	14	1767	c.1326G>A	c.(1324-1326)GGG>GGA	p.G442G	TLE1_uc004alz.2_Silent_p.G452G|TLE1_uc011lsr.1_Silent_p.G427G|TLE1_uc004ama.1_Silent_p.G441G	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	442	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2						CTTACGGTTTCCCCCCAGGGA	0.473													T	84225140	C	T	84225140	2	4	20	1	0	0	0	0	0	0	0	1	15935	842	30	4		4	TLE1	9	84225140	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1903414	84225140	56988291	997	18668											
FLJ46321	389763	broad.mit.edu	37	chr9	84607025	84607025	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcccatgaatccccagtacTtccccctccccaacctctgt	3	20	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:84607025T>G	uc004amn.2	+	4	1687	c.1640T>G	c.(1639-1641)CTT>CGT	p.L547R		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	547						integral to membrane					0						TCCCCAGTACTTCCCCCTCCC	0.502													G	84607025	T	G	84607025	3	3	20	1	0	0	0	0	1	0	0	0	5932	1609	56	5	1654	5	FLJ46321	9	84607025	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	381885	84607025	56606406	998	18669											
DAPK1	1612	broad.mit.edu	37	chr9	90264945	90264945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaaccgagaaggagagaCgcccctcctgacagcctctg	11	14	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:90264945C>T	uc004apc.2	+	16	1676	c.1538C>T	c.(1537-1539)ACG>ATG	p.T513M	DAPK1_uc004ape.2_Missense_Mutation_p.T513M|DAPK1_uc004apd.2_Missense_Mutation_p.T513M|DAPK1_uc011ltg.1_Missense_Mutation_p.T513M|DAPK1_uc011lth.1_Missense_Mutation_p.T250M|DAPK1_uc004apf.1_Missense_Mutation_p.T67M	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	513	ANK 5.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						GAAGGAGAGACGCCCCTCCTG	0.582									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				T	90264945	C	T	90264945	3	4	20	1	0	0	0	0	1	0	0	0	4235	536	19	1	1596	1	DAPK1	9	90264945	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	5657920	90264945	50948486	999	18670											
DIRAS2	54769	broad.mit.edu	37	chr9	93376013	93376013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcgggatgtagctctcccGgaatgtgcctttcacaaacc	10	13	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:93376013G>A	uc004aqx.1	-	2	208	c.97C>T	c.(97-99)CGG>TGG	p.R33W		NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Di-Ras2	33	GTP.				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity				0						TAGCTCTCCCGGAATGTGCCT	0.567													A	93376013	G	A	93376013	3	1	20	1	0	0	0	0	1	0	0	0	4531	1115	39	1	506	1	DIRAS2	9	93376013	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3111068	93376013	47837418	1000	18671											
SYK	6850	broad.mit.edu	37	chr9	93650880	93650880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgtccaagagagatgtaCgatctcatgaatctgtgctg	13	7	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:93650880C>T	uc004aqz.2	+	13	2011	c.1806C>T	c.(1804-1806)TAC>TAT	p.Y602Y	SYK_uc004ara.2_Silent_p.Y579Y|SYK_uc004arb.2_Silent_p.Y579Y|SYK_uc004arc.2_Silent_p.Y602Y|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	602	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						GAGAGATGTACGATCTCATGA	0.478			T	ETV6|ITK	MDS|peripheral T-cell lymphoma								T	93650880	C	T	93650880	2	4	20	1	0	0	0	0	0	0	0	1	15435	547	19	1		1	SYK	9	93650880	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	274867	93650880	47562551	1001	18672											
AUH	549	broad.mit.edu	37	chr9	93978376	93978376	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctatggctaaccctgTtactaaatcgacctgagaat	6	10	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:93978376T>C	uc004arf.3	-	9	942	c.907A>G	c.(907-909)ACA>GCA	p.T303A	AUH_uc004arg.3_Missense_Mutation_p.T274A	NM_001698	NP_001689	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-Coenzyme A	303					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding				0						GCTAACCCTGTTACTAAATCG	0.318													C	93978376	T	C	93978376	3	2	20	1	0	0	0	0	1	0	0	0	1219	1725	60	3	120	3	AUH	9	93978376	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	327496	93978376	47235055	1002	18673											
WNK2	65268	broad.mit.edu	37	chr9	95997117	95997117	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagttcatggcgcccgagaTgtacgaggagcactacgatg	14	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:95997117T>C	uc004ati.1	+	4	1103	c.1103T>C	c.(1102-1104)ATG>ACG	p.M368T	WNK2_uc011lud.1_Missense_Mutation_p.M368T|WNK2_uc004atj.2_Missense_Mutation_p.M368T|WNK2_uc004atk.2_Missense_Mutation_p.M5T|WNK2_uc010mrc.1_Missense_Mutation_p.M368T|WNK2_uc010mrd.1_Missense_Mutation_p.M5T	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	368	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						GCGCCCGAGATGTACGAGGAG	0.617													C	95997117	T	C	95997117	3	2	20	1	0	0	0	0	1	0	0	0	17375	1464	51	3	1117	3	WNK2	9	95997117	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2018741	95997117	45216314	1003	18674											
FAM120A	23196	broad.mit.edu	37	chr9	96233460	96233460	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatcaccatcaggaagtgaTtggtttctgcagagagaatg	13	6	3	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:96233460T>C	uc004atw.2	+	2	537	c.512T>C	c.(511-513)ATT>ACT	p.I171T	FAM120A_uc004atv.2_Missense_Mutation_p.I171T|FAM120A_uc004atx.2_5'UTR|FAM120A_uc004aty.2_5'UTR	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	171						cytoplasm|plasma membrane	RNA binding				0						CAGGAAGTGATTGGTTTCTGC	0.443													C	96233460	T	C	96233460	3	2	20	1	0	0	0	0	1	0	0	0	5415	1493	52	3	518	3	FAM120A	9	96233460	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	236343	96233460	44979971	1004	18675											
FAM120A	23196	broad.mit.edu	37	chr9	96320179	96320179	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcagcttctccaggcagaGccacacgctccctttcccgc	8	19	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:96320179G>T	uc004atw.2	+	14	2580	c.2555G>T	c.(2554-2556)AGC>ATC	p.S852I	FAM120A_uc004aty.2_Missense_Mutation_p.S633I|FAM120A_uc004atz.2_Missense_Mutation_p.S501I|FAM120A_uc010mrg.2_Missense_Mutation_p.S165I	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	852	RNA binding.					cytoplasm|plasma membrane	RNA binding				0						TCCAGGCAGAGCCACACGCTC	0.642													T	96320179	G	T	96320179	3	4	20	1	0	0	0	0	1	0	0	0	5415	971	34	5	2609	5	FAM120A	9	96320179	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	86719	96320179	44893252	1005	18676											
C9orf102	375748	broad.mit.edu	37	chr9	98728851	98728851	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgttttagcaacttcActgtgtggtggttggaagtg	12	5	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:98728851A>G	uc004avt.3	+	14	2376	c.1988A>G	c.(1987-1989)CAC>CGC	p.H663R	C9orf102_uc011lum.1_Missense_Mutation_p.H365R|C9orf102_uc010mry.1_Missense_Mutation_p.H365R|C9orf102_uc010mrz.2_Missense_Mutation_p.H474R|C9orf102_uc004avu.2_5'UTR	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	663	Helicase C-terminal.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				TAGCAACTTCACTGTGTGGTG	0.388													G	98728851	A	G	98728851	3	3	20	1	0	0	0	0	1	0	0	0	2445	159	6	3	2042	3	C9orf102	9	98728851	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2408672	98728851	42484580	1006	18677											
ZNF510	22869	broad.mit.edu	37	chr9	99537116	99537116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaaagagtgtggagaacCgtaaaggataacctgggggt	15	6	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:99537116C>T	uc004awn.1	-	3	272	c.83G>A	c.(82-84)CGG>CAG	p.R28Q	ZNF510_uc004awo.1_Missense_Mutation_p.R28Q	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				TGTGGAGAACCGTAAAGGATA	0.453													T	99537116	C	T	99537116	3	4	20	1	0	0	0	0	1	0	0	0	17951	652	23	1	1984	1	ZNF510	9	99537116	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	808265	99537116	41676315	1007	18678											
ERP44	23071	broad.mit.edu	37	chr9	102780583	102780583	+	Frame_Shift_Del	DEL	T	T	-													tcgccactatatctttccggTtttgaaacatccctatagga							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:102780582_102780582GT>G	uc004bam.3	-	6	809	c.601_601AC>C	c.(601-603)ccgfs	p.P201fs	ERP44_uc010msy.3_Non-coding_Transcript	NM_015051	NP_055866	Q9BS26	ERP44_HUMAN	Homo sapiens endoplasmic reticulum protein 44 (ERP44), mRNA.	201					cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	ER-Golgi intermediate compartment|endoplasmic reticulum lumen|endoplasmic reticulum membrane	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						TATCTTTCCGGTTTTGAAACA	0.323													-	102780583	T	-	102780583	7	5	20	1	0	1	0	1	0	0	0	0	5243	1722	60	0	644	0	ERP44	9	102780583	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	3243467	102780583	38432848	1008	18679											
ZNF462	58499	broad.mit.edu	37	chr9	109746489	109746489	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcgtgttgtccccattgaAgtttgccggtccaaactgtc	11	11	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:109746489A>C	uc004bcz.2	+	10	7144	c.6855A>C	c.(6853-6855)GAA>GAC	p.E2285D	ZNF462_uc010mto.2_Missense_Mutation_p.E2194D|ZNF462_uc004bda.2_Missense_Mutation_p.E2193D|ZNF462_uc011lvz.1_Missense_Mutation_p.E242D|uc004bdc.1_Intron	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	2285					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						TCCCCATTGAAGTTTGCCGGT	0.428													C	109746489	A	C	109746489	3	2	20	1	0	0	0	0	1	0	0	0	17923	69	3	5	6889	5	ZNF462	9	109746489	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	6965906	109746489	31466942	1009	18680											
RAD23B	5887	broad.mit.edu	37	chr9	110081036	110081036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccctccctttttagtgaCgggtcagtcttacgagaata	8	12	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:110081036C>T	uc004bde.2	+	6	924	c.557C>T	c.(556-558)ACG>ATG	p.T186M	RAD23B_uc011lwa.1_Missense_Mutation_p.T186M|RAD23B_uc011lwb.1_Missense_Mutation_p.T165M	NM_002874	NP_002865	P54727	RD23B_HUMAN	UV excision repair protein RAD23 homolog B	186					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			ovary(1)	1						TTTTTAGTGACGGGTCAGTCT	0.328								Direct_reversal_of_damage|NER					T	110081036	C	T	110081036	3	4	20	1	0	0	0	0	1	0	0	0	12983	536	19	1	579	1	RAD23B	9	110081036	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	334547	110081036	31132395	1010	18681											
ACTL7B	10880	broad.mit.edu	37	chr9	111617896	111617896	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagcttgagaggcgcctcCgtgttgagcagctcatggcc	13	13	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:111617896C>T	uc004bdi.2	-	1	380	c.315G>A	c.(313-315)ACG>ACA	p.T105T		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	105						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						GAGGCGCCTCCGTGTTGAGCA	0.632													T	111617896	C	T	111617896	2	4	20	1	0	0	0	0	0	0	0	1	201	639	23	1		1	ACTL7B	9	111617896	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1536860	111617896	29595535	1011	18682											
ACTL7A	10881	broad.mit.edu	37	chr9	111625773	111625773	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgacaccccgcaggtaaacGtgctgcctgaaagagacagt	11	11	0	3	rs142768089	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:111625773G>T	uc004bdj.1	+	1	1171	c.1171G>T	c.(1171-1173)GTG>TTG	p.V391L		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	391						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0						GCAGGTAAACGTGCTGCCTGA	0.587													T	111625773	G	T	111625773	3	4	20	1	0	0	0	0	1	0	0	0	200	1145	40	5	1173	5	ACTL7A	9	111625773	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	7877	111625773	29587658	1012	18683											
C9orf84	158401	broad.mit.edu	37	chr9	114490016	114490017	+	Frame_Shift_Ins	INS	-	-	T													ggtccaaatcattctcttgtINStttttgccatgttcaaaaga							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:114490015_114490016G>GT	uc004bfr.3	-	10	1674_1675	c.1539_1540C>AC	c.(1537-1542)aaacaafs	p.K513fs	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Frame_Shift_Ins_p.K474fs|C9orf84_uc010mug.3_Frame_Shift_Ins_p.K459fs	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	513								p.S514P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCATTCTCTTGTTTTTTGCCAT	0.337													T	114490017	-	T	114490016	7	5	20	1	0	1	1	0	0	0	0	0	2500	1722	60	0	2859	0	C9orf84	9	114490016	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	2864243	114490016	26723415	1013	18684											
HSDL2	84263	broad.mit.edu	37	chr9	115166397	115166397	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaagaccgcccagccacAtccaaaacttctaggcacaa	6	15	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:115166397A>G	uc004bga.1	+	2	233	c.140A>G	c.(139-141)CAT>CGT	p.H47R	HSDL2_uc011lwv.1_Intron|HSDL2_uc004bgb.1_5'UTR|HSDL2_uc004bgc.1_Missense_Mutation_p.H47R|HSDL2_uc011lww.1_5'UTR	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	47						peroxisome	oxidoreductase activity|sterol binding				0						GCCCAGCCACATCCAAAACTT	0.418													G	115166397	A	G	115166397	3	3	20	1	0	0	0	0	1	0	0	0	7394	217	8	3	146	3	HSDL2	9	115166397	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	676381	115166397	26047034	1014	18685											
C9orf80	58493	broad.mit.edu	37	chr9	115456516	115456516	+	Splice_Site	DEL	A	A	-													tatttttgttttgaaaacctAaaaaaaagaggggaatagga							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:115456515_115456515TA>T	uc004bgg.3	-	3	203	c.26_splice	c.e3-1	p.G9_splice	C9orf80_uc010muk.3_Splice_Site	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN	Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA.	9					DNA repair|response to ionizing radiation	SOSS complex	protein binding	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	4						TTTGAAAACCTAAAAAAAAGA	0.348													-	115456516	A	-	115456516	8	5	20	1	0	1	0	1	0	0	1	0	2498	377	13	0		0	C9orf80	9	115456516	Splice_Site	DEL	A	TCGA-BR-4362-01A-01D-1158-08	290119	115456516	25756915	1015	18686											
ZNF883	169834	broad.mit.edu	37	chr9	115759687	115759687	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcacacaagaatgaatttTtagatgttcagtaaggtgtg	9	4	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:115759687T>G	uc011lwy.1	-	5	2092	c.853A>C	c.(853-855)AAA>CAA	p.K285Q		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	hypothetical protein LOC169834	285	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAATGAATTTTTAGATGTTCA	0.378													G	115759687	T	G	115759687	3	3	20	1	0	0	0	0	1	0	0	0	18195	1850	64	5	288	5	ZNF883	9	115759687	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	303171	115759687	25453744	1016	18687											
COL27A1	85301	broad.mit.edu	37	chr9	117062942	117062942	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggcttcaaaggcatccaggGccctcgggggccacctggct	14	14	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:117062942G>C	uc011lxl.1	+	51	4676	c.4676G>C	c.(4675-4677)GGC>GCC	p.G1559A	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	1559	Collagen-like 15.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						GGCATCCAGGGCCCTCGGGGG	0.627													C	117062942	G	C	117062942	3	2	20	1	0	0	0	0	1	0	0	0	3685	1203	42	5	4878	5	COL27A1	9	117062942	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1303255	117062942	24150489	1017	18688											
PAPPA	5069	broad.mit.edu	37	chr9	118950337	118950337	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggccacgacggcggggattgCcgccacctgcgccaccctgc	14	18	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:118950337C>G	uc004bjn.2	+	2	1701	c.1320C>G	c.(1318-1320)TGC>TGG	p.C440W	PAPPA_uc011lxp.1_Missense_Mutation_p.C233W|PAPPA_uc011lxq.1_Missense_Mutation_p.C233W	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	440	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						GCGGGGATTGCCGCCACCTGC	0.592													G	118950337	C	G	118950337	3	3	20	1	0	0	0	0	1	0	0	0	11432	747	26	5	1326	5	PAPPA	9	118950337	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1887395	118950337	22263094	1018	18689											
ASTN2	23245	broad.mit.edu	37	chr9	119413813	119413813	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggagctcacctccttTgtgccattgtcttggatgag	12	11	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:119413813T>C	uc004bjs.1	-	17	3167	c.3066A>G	c.(3064-3066)ACA>ACG	p.T1022T	ASTN2_uc004bjr.1_Silent_p.T1018T|ASTN2_uc004bjt.1_Silent_p.T971T|ASTN2_uc004bjp.1_Silent_p.T115T|ASTN2_uc004bjq.1_Silent_p.T74T|ASTN2_uc011lxr.1_Silent_p.T74T|ASTN2_uc011lxs.1_Silent_p.T74T|ASTN2_uc011lxt.1_Silent_p.T74T|ASTN2_uc004bjv.1_Silent_p.T74T	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	1022	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						TCACCTCCTTTGTGCCATTGT	0.557													C	119413813	T	C	119413813	2	2	20	1	0	0	0	0	0	0	0	1	1065	1799	63	3		3	ASTN2	9	119413813	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	463476	119413813	21799618	1019	18690											
TRIM32	22954	broad.mit.edu	37	chr9	119461051	119461051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcctcacctgctaaacagCggggtcctgaggcagcctcc	13	15	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:119461051C>T	uc004bjx.2	+	2	1188	c.1030C>T	c.(1030-1032)CGG>TGG	p.R344W	ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.R344W	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN	tripartite motif-containing 32	344					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|kidney(1)	3						TGCTAAACAGCGGGGTCCTGA	0.557									Bardet-Biedl_syndrome				T	119461051	C	T	119461051	3	4	20	1	0	0	0	0	1	0	0	0	16503	759	27	1	1032	1	TRIM32	9	119461051	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	47238	119461051	21752380	1020	18691											
DBC1	1620	broad.mit.edu	37	chr9	121929568	121929568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaatatccaacaagaggaGcatcactgacgaagaggaat	10	9	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:121929568G>A	uc004bkc.2	-	8	2536	c.2080C>T	c.(2080-2082)CTC>TTC	p.L694F		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	694					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						AACAAGAGGAGCATCACTGAC	0.577													A	121929568	G	A	121929568	3	1	20	1	0	0	0	0	1	0	0	0	4247	971	34	2	209	2	DBC1	9	121929568	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2468517	121929568	19283863	1021	18692											
DBC1	1620	broad.mit.edu	37	chr9	121929812	121929812	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtagatgtggaccgtctcGaaaaatgttttccaccgatt	10	8	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:121929812G>A	uc004bkc.2	-	8	2292	c.1836C>T	c.(1834-1836)TTC>TTT	p.F612F		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	612					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						GGACCGTCTCGAAAAATGTTT	0.552													A	121929812	G	A	121929812	2	1	20	1	0	0	0	0	0	0	0	1	4247	1049	37	1		1	DBC1	9	121929812	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	244	121929812	19283619	1022	18693											
DBC1	1620	broad.mit.edu	37	chr9	121971057	121971057	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacactgaggccgaaaagcTtgcgggcagtgcgttggatc	15	9	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:121971057T>C	uc004bkc.2	-	7	1541	c.1085A>G	c.(1084-1086)AAG>AGG	p.K362R		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	362					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						GCCGAAAAGCTTGCGGGCAGT	0.587													C	121971057	T	C	121971057	3	2	20	1	0	0	0	0	1	0	0	0	4247	1609	56	3	1208	3	DBC1	9	121971057	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	41245	121971057	19242374	1023	18694											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123210224	123210224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctccatcactgcttcagCcagaattaacttttggtgaa	6	13	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:123210224C>T	uc004bkf.2	-	22	3155	c.2974G>A	c.(2974-2976)GCT>ACT	p.A992T	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.A42T|CDK5RAP2_uc004bke.2_Missense_Mutation_p.A277T|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.A992T|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.A257T|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.A257T|CDK5RAP2_uc011lya.1_Missense_Mutation_p.A257T|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.A762T|CDK5RAP2_uc004bki.2_Missense_Mutation_p.A759T	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	992	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						ACTGCTTCAGCCAGAATTAAC	0.498													T	123210224	C	T	123210224	3	4	20	1	0	0	0	0	1	0	0	0	3146	739	26	2	2775	2	CDK5RAP2	9	123210224	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1239167	123210224	18003207	1024	18695											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123230141	123230144	+	Frame_Shift_Del	DEL	TGTT	TGTT	-													acaaaaatgtttcttacctcTgtttgttctgtagacgcaag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:123230140_123230143CTGTT>C	uc004bkf.3	-	17	2282_2285	c.2101_2104AACAG>G	c.(2101-2106)acagagfs	p.T701fs	CDK5RAP2_uc004bke.3_Frame_Shift_Del_p.T18fs|CDK5RAP2_uc004bkg.3_Frame_Shift_Del_p.T701fs|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Frame_Shift_Del_p.T700fs|CDK5RAP2_uc004bki.3_Frame_Shift_Del_p.T500fs	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	701					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TTTCTTACCTCTGTTTGTTCTGTA	0.441													-	123230144	TGTT	-	123230141	7	5	20	1	0	1	0	1	0	0	0	0	3146	1567	55	0	3662	0	CDK5RAP2	9	123230141	Frame_Shift_Del	DEL	TGTT	TCGA-BR-4362-01A-01D-1158-08	19917	123230141	17983290	1025	18696											
C5	727	broad.mit.edu	37	chr9	123794459	123794459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttatatttagccttgatcGtccacataccatatctgtgg	6	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:123794459G>A	uc004bkv.2	-	6	629	c.599C>T	c.(598-600)ACG>ATG	p.T200M	C5_uc010mvm.1_Missense_Mutation_p.T200M|C5_uc010mvn.1_Missense_Mutation_p.T200M	NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	200					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AGCCTTGATCGTCCACATACC	0.279													A	123794459	G	A	123794459	3	1	20	1	0	0	0	0	1	0	0	0	2280	1145	40	1	4575	1	C5	9	123794459	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	564318	123794459	17418972	1026	18697											
RAB14	51552	broad.mit.edu	37	chr9	123954450	123954450	+	Splice_Site	DEL	T	T	-													cctcatgtattgaacttacaTtttttttctgtaaattgatg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:123954449_123954449AT>A	uc004blc.3	-	3	562	c.106_splice	c.e3+1	p.F36_splice		NM_016322	NP_057406	P61106	RAB14_HUMAN	Homo sapiens RAB14, member RAS oncogene family (RAB14), mRNA.	36					Golgi to endosome transport|embryo development|fibroblast growth factor receptor signaling pathway|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	Golgi membrane|Golgi stack|cytosol|early endosome membrane|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTGAACTTACATTTTTTTTCT	0.294													-	123954450	T	-	123954450	8	5	20	1	0	1	0	1	0	0	1	0	12900	1507	52	0	566	0	RAB14	9	123954450	Splice_Site	DEL	T	TCGA-BR-4362-01A-01D-1158-08	159991	123954450	17258981	1027	18698											
STOM	2040	broad.mit.edu	37	chr9	124111494	124111494	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagtttgtgccaaaagacgGgttgctgagtcagcgttggt	15	6	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:124111494G>T	uc004blh.2	-	5	509	c.429C>A	c.(427-429)ACC>ACA	p.T143T	STOM_uc011lyk.1_Silent_p.T92T|STOM_uc004bli.2_Intron	NM_004099	NP_004090	P27105	STOM_HUMAN	stomatin isoform a	143	Cytoplasmic (Potential).				protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding				0				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		CCAAAAGACGGGTTGCTGAGT	0.478													T	124111494	G	T	124111494	2	4	20	1	0	0	0	0	0	0	0	1	15311	1219	43	5		5	STOM	9	124111494	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	157044	124111494	17101937	1028	18699											
STOM	2040	broad.mit.edu	37	chr9	124116898	124116898	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcctttggctcctccTtgtaaaatgcgacccaatct	7	14	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:124116898T>C	uc004blh.2	-	3	299	c.219A>G	c.(217-219)CAA>CAG	p.Q73Q	STOM_uc011lyk.1_Silent_p.Q22Q|STOM_uc004bli.2_Intron	NM_004099	NP_004090	P27105	STOM_HUMAN	stomatin isoform a	73	Cytoplasmic (Potential).				protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding				0				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		TGGCTCCTCCTTGTAAAATGC	0.284													C	124116898	T	C	124116898	2	2	20	1	0	0	0	0	0	0	0	1	15311	1606	56	3		3	STOM	9	124116898	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	5404	124116898	17096533	1029	18700											
PTGS1	5742	broad.mit.edu	37	chr9	125154583	125154583	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactctatctttggggagagTatgatagagattggggctcc	13	6	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:125154583T>C	uc004bmg.1	+	11	1695	c.1560T>C	c.(1558-1560)AGT>AGC	p.S520S	PTGS1_uc011lys.1_Silent_p.S458S|PTGS1_uc010mwb.1_Silent_p.S374S|PTGS1_uc004bmf.1_Silent_p.S483S|PTGS1_uc004bmh.1_Silent_p.S411S|PTGS1_uc011lyt.1_Silent_p.S411S	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	520					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|skin(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TTGGGGAGAGTATGATAGAGA	0.512													C	125154583	T	C	125154583	2	2	20	1	0	0	0	0	0	0	0	1	12755	1635	57	3		3	PTGS1	9	125154583	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1037685	125154583	16058848	1030	18701											
STRBP	55342	broad.mit.edu	37	chr9	125909141	125909141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaatactgtaccttcaccGctacgtgaagttttgctgtt	7	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:125909141G>A	uc004bns.2	-	13	1761	c.1331C>T	c.(1330-1332)GCG>GTG	p.A444V	STRBP_uc004bnt.2_Missense_Mutation_p.A262V|STRBP_uc004bnu.2_Missense_Mutation_p.A430V|STRBP_uc004bnv.2_Missense_Mutation_p.A444V|STRBP_uc004bnr.2_Missense_Mutation_p.A56V	NM_018387	NP_060857	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	444	DRBM 1.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|skin(1)	2						TACCTTCACCGCTACGTGAAG	0.353													A	125909141	G	A	125909141	3	1	20	1	0	0	0	0	1	0	0	0	15326	1087	38	1	715	1	STRBP	9	125909141	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	754558	125909141	15304290	1031	18702											
ZNF79	7633	broad.mit.edu	37	chr9	130197442	130197442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctcgtgtctactccacGggacaggttcaaggagggga	15	10	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:130197442G>A	uc004bqw.3	+	3	593	c.179G>A	c.(178-180)CGG>CAG	p.R60Q	ZNF79_uc011maf.1_Missense_Mutation_p.R36Q|ZNF79_uc011mag.1_Missense_Mutation_p.R36Q	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	zinc finger protein 79	60	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						TCTACTCCACGGGACAGGTTC	0.453													A	130197442	G	A	130197442	3	1	20	1	0	0	0	0	1	0	0	0	18158	1116	39	1	189	1	ZNF79	9	130197442	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	4288301	130197442	11015989	1032	18703											
FAM129B	64855	broad.mit.edu	37	chr9	130280190	130280190	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatggcatctgtgaacgcaGggccctctaccttggagtcc	13	12	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:130280190G>T	uc004brh.2	-	6	822	c.620C>A	c.(619-621)CCT>CAT	p.P207H	FAM129B_uc004bri.2_Missense_Mutation_p.P194H|FAM129B_uc004brj.3_Missense_Mutation_p.P207H	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	207							protein binding				0						TGTGAACGCAGGGCCCTCTAC	0.612													T	130280190	G	T	130280190	3	4	20	1	0	0	0	0	1	0	0	0	5437	1000	35	5	1656	5	FAM129B	9	130280190	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	82748	130280190	10933241	1033	18704											
DNM1	1759	broad.mit.edu	37	chr9	130986540	130986540	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcgttcagaacggggctgTttaccccagacatggccttt	13	11	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:130986540T>C	uc011mau.1	+	10	1294	c.1207T>C	c.(1207-1209)TTT>CTT	p.F403L	DNM1_uc010mxr.2_Intron|DNM1_uc011mat.1_Missense_Mutation_p.F403L	NM_004408	NP_004399	Q05193	DYN1_HUMAN	dynamin 1 isoform 1	403					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			ovary(2)	2						AACGGGGCTGTTTACCCCAGA	0.348													C	130986540	T	C	130986540	3	2	20	1	0	0	0	0	1	0	0	0	4670	1725	60	3	1245	3	DNM1	9	130986540	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	706350	130986540	10226891	1034	18705											
TRUB2	26995	broad.mit.edu	37	chr9	131076121	131076121	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctaccagcctcccgtcctcAcggaagtcatctgtagcttt	7	15	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:131076121A>G	uc004buq.1	-	5	436	c.426T>C	c.(424-426)CGT>CGC	p.R142R		NM_015679	NP_056494	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase homolog 2	142					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			ovary(1)	1						TCCCGTCCTCACGGAAGTCAT	0.572													G	131076121	A	G	131076121	2	3	20	1	0	0	0	0	0	0	0	1	16600	146	6	3		3	TRUB2	9	131076121	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	89581	131076121	10137310	1035	18706											
SLC27A4	10999	broad.mit.edu	37	chr9	131110839	131110839	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagccatctgtgaggtccAtgccagcctggacccctcgc	10	17	1	1	rs148956936		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:131110839A>G	uc004but.2	+	4	856	c.572A>G	c.(571-573)CAT>CGT	p.H191R	SLC27A4_uc004buu.2_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	191					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0						TGTGAGGTCCATGCCAGCCTG	0.632													G	131110839	A	G	131110839	3	3	20	1	0	0	0	0	1	0	0	0	14528	217	8	3	582	3	SLC27A4	9	131110839	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	34718	131110839	10102592	1036	18707											
PKN3	29941	broad.mit.edu	37	chr9	131468079	131468079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcacctagaggctctccGgaggcagctgcatgtggagc	15	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:131468079G>A	uc004bvw.2	+	3	725	c.332G>A	c.(331-333)CGG>CAG	p.R111Q	PKN3_uc010myh.2_Missense_Mutation_p.R111Q|PKN3_uc011mbk.1_5'UTR	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	protein kinase PKNbeta	111	REM 2.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			stomach(2)|lung(2)	4						GAGGCTCTCCGGAGGCAGCTG	0.657													A	131468079	G	A	131468079	3	1	20	1	0	0	0	0	1	0	0	0	11981	1116	39	1	342	1	PKN3	9	131468079	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	357240	131468079	9745352	1037	18708											
CRAT	1384	broad.mit.edu	37	chr9	131857690	131857690	+	Frame_Shift_Del	DEL	G	G	-													aggggctcagagcttggcccGggggtggctctgcagcaggg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:131857689_131857689CG>C	uc004bxh.3	-	13	2150	c.1868_1868CG>G	c.(1867-1869)cggfs	p.R623fs	CRAT_uc004bxk.4_Frame_Shift_Del_p.R602fs	NM_000755	NP_000746	P43155	CACP_HUMAN	Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	623					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GAGCTTGGCCCGGGGGTGGCT	0.677													-	131857690	G	-	131857690	7	5	20	1	0	1	0	1	0	0	0	0	3847	1115	39	0	17	0	CRAT	9	131857690	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	389611	131857690	9355741	1038	18709											
ABL1	25	broad.mit.edu	37	chr9	133759579	133759579	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggagcgcagaggggccggCgaggaagagggccgagacat	20	10	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:133759579C>T	uc004bzw.2	+	11	1905	c.1902C>T	c.(1900-1902)GGC>GGT	p.G634G	ABL1_uc004bzv.2_Silent_p.G653G	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	634					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GAGGGGCCGGCGAGGAAGAGG	0.647			T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL								T	133759579	C	T	133759579	2	4	20	1	0	0	0	0	0	0	0	1	92	755	27	1		1	ABL1	9	133759579	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1901889	133759579	7453852	1039	18710											
BAT2L1	84726	broad.mit.edu	37	chr9	134357813	134357813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacttgagtgccgagtctcGggagtcgtctgcgacctcct	13	12	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:134357813G>A	uc004can.3	+	20	5094	c.5039G>A	c.(5038-5040)CGG>CAG	p.R1680Q	BAT2L1_uc004cao.3_Missense_Mutation_p.R1037Q|BAT2L1_uc004cap.3_5'Flank	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1680							protein binding				0						GCCGAGTCTCGGGAGTCGTCT	0.602													A	134357813	G	A	134357813	3	1	20	1	0	0	0	0	1	0	0	0	1320	1116	39	1	5117	1	BAT2L1	9	134357813	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	598234	134357813	6855618	1040	18711											
POMT1	10585	broad.mit.edu	37	chr9	134390827	134390827	+	Frame_Shift_Del	DEL	C	C	-													ttccaggcatgatgttgcagCccccctgagcccccattcac							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:134390826_134390826GC>G	uc004cav.3	+	12	1457	c.1255_1255GC>G	c.(1255-1257)gccfs	p.A419fs	POMT1_uc004cax.3_Frame_Shift_Del_p.A397fs|POMT1_uc011mcj.2_Frame_Shift_Del_p.A175fs|POMT1_uc004cau.3_Frame_Shift_Del_p.A397fs|POMT1_uc004caw.3_Frame_Shift_Del_p.A343fs|POMT1_uc011mck.2_Frame_Shift_Del_p.A280fs|POMT1_uc011mcl.2_Frame_Shift_Del_p.A245fs|POMT1_uc011mcm.2_Frame_Shift_Del_p.A367fs	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	419	MIR 2.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TGATGTTGCAGCCCCCCTGAG	0.507													-	134390827	C	-	134390827	7	5	20	1	0	1	0	1	0	0	0	0	12245	739	26	0	1302	0	POMT1	9	134390827	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	33014	134390827	6822604	1041	18712											
RALGDS	5900	broad.mit.edu	37	chr9	135982497	135982497	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcgatccagtgctccAccaccctggccctgtctggg	9	19	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:135982497A>G	uc004cco.2	-	7	1408	c.1388T>C	c.(1387-1389)GTG>GCG	p.V463A	RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.V451A|RALGDS_uc004ccr.2_Missense_Mutation_p.V462A|RALGDS_uc011mcv.1_Missense_Mutation_p.V434A|RALGDS_uc004ccs.2_Missense_Mutation_p.V408A|RALGDS_uc011mcw.1_Missense_Mutation_p.V534A|RALGDS_uc004ccv.1_Missense_Mutation_p.V232A|RALGDS_uc004ccu.1_Missense_Mutation_p.V232A	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	463	Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CCAGTGCTCCACCACCCTGGC	0.622			T	CIITA	PMBL|Hodgkin Lymphona|								G	135982497	A	G	135982497	3	3	20	1	0	0	0	0	1	0	0	0	13016	159	6	3	1404	3	RALGDS	9	135982497	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1591670	135982497	5230934	1042	18713											
C9orf96	169436	broad.mit.edu	37	chr9	136251429	136251429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgctgaagctgcggcacgCccacatctctgtgtaccagg	11	14	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:136251429C>T	uc004cdk.2	+	4	309	c.248C>T	c.(247-249)GCC>GTC	p.A83V	C9orf96_uc004cdl.2_RNA	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	83	Protein kinase.						ATP binding|protein kinase activity			stomach(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTGCGGCACGCCCACATCTCT	0.607													T	136251429	C	T	136251429	3	4	20	1	0	0	0	0	1	0	0	0	2508	739	26	2	262	2	C9orf96	9	136251429	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	268932	136251429	4962002	1043	18714											
C9orf7	11094	broad.mit.edu	37	chr9	136328610	136328610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcttgtttcaagcttgcGcgatctctggcctcttcaac	8	13	5	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:136328610G>A	uc011mdg.1	+	2	229	c.127G>A	c.(127-129)GCG>ACG	p.A43T	C9orf7_uc004cec.2_Missense_Mutation_p.A43T|C9orf7_uc011mdh.1_Missense_Mutation_p.A43T|C9orf7_uc011mdi.1_Missense_Mutation_p.A43T|C9orf7_uc010nan.2_RNA	NM_017586	NP_060056	Q9UGQ2	FLOWR_HUMAN	hypothetical protein LOC11094 isoform a	43	Helical; (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(294;5.7e-39)|all cancers(34;1.83e-23)|OV - Ovarian serous cystadenocarcinoma(145;8.94e-08)|Epithelial(140;1.01e-06)		TCAAGCTTGCGCGATCTCTGG	0.612													A	136328610	G	A	136328610	3	1	20	1	0	0	0	0	1	0	0	0	2493	1087	38	1	133	1	C9orf7	9	136328610	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	77181	136328610	4884821	1044	18715											
C9orf7	11094	broad.mit.edu	37	chr9	136328658	136328658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccaccctctgaacattGcggccggcgtgtggatgatg	12	13	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:136328658G>A	uc011mdg.1	+	2	277	c.175G>A	c.(175-177)GCG>ACG	p.A59T	C9orf7_uc004cec.2_Missense_Mutation_p.A59T|C9orf7_uc011mdh.1_Missense_Mutation_p.A59T|C9orf7_uc011mdi.1_Missense_Mutation_p.A59T|C9orf7_uc010nan.2_RNA	NM_017586	NP_060056	Q9UGQ2	FLOWR_HUMAN	hypothetical protein LOC11094 isoform a	59	Helical; (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(294;5.7e-39)|all cancers(34;1.83e-23)|OV - Ovarian serous cystadenocarcinoma(145;8.94e-08)|Epithelial(140;1.01e-06)		TCTGAACATTGCGGCCGGCGT	0.622													A	136328658	G	A	136328658	3	1	20	1	0	0	0	0	1	0	0	0	2493	1319	46	2	181	2	C9orf7	9	136328658	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	48	136328658	4884773	1045	18716											
BRD3	8019	broad.mit.edu	37	chr9	136918529	136918530	+	Frame_Shift_Ins	INS	-	-	G													gctggggttggagacctccgINSgggggggtgggttcacaggg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:136918528_136918529C>CG	uc004cew.3	-	1	259_260	c.71_72G>CG	c.(70-72)ccgfs	p.P24fs	BRD3_uc004cex.2_Frame_Shift_Ins_p.P24fs	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	24						nucleus	protein binding	p.P24fs*24(1)	BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TGGAGACCTCCGGGGGGGGTGG	0.658			T	C15orf55	lethal midline carcinoma of young people								G	136918530	-	G	136918529	7	5	20	1	0	1	1	0	0	0	0	0	1503	1116	39	0	2153	0	BRD3	9	136918529	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	589871	136918529	4294902	1046	18717											
COL5A1	1289	broad.mit.edu	37	chr9	137622201	137622201	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagtgaggactactacacGccctcaccgtatgatgacct	8	15	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:137622201G>A	uc004cfe.2	+	7	1426	c.1044G>A	c.(1042-1044)ACG>ACA	p.T348T		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	348	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACTACTACACGCCCTCACCGT	0.632													A	137622201	G	A	137622201	2	1	20	1	0	0	0	0	0	0	0	1	3696	1074	38	1		1	COL5A1	9	137622201	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	703672	137622201	3591230	1047	18718											
FCN2	2220	broad.mit.edu	37	chr9	137777737	137777737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaacatccacgccctgaccGcccagggtagggccgctgct	11	17	0	1	rs55860122		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:137777737G>A	uc004cfg.1	+	6	563	c.553G>A	c.(553-555)GCC>ACC	p.A185T	FCN2_uc004cfh.1_Missense_Mutation_p.A147T	NM_004108	NP_004099	Q15485	FCN2_HUMAN	ficolin 2 isoform a precursor	185	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			large_intestine(1)	1		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CGCCCTGACCGCCCAGGGTAG	0.672													A	137777737	G	A	137777737	3	1	20	1	0	0	0	0	1	0	0	0	5792	1087	38	1	575	1	FCN2	9	137777737	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	155536	137777737	3435694	1048	18719											
CAMSAP1	157922	broad.mit.edu	37	chr9	138712780	138712780	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctccccatcctcgtcgggggCcttcaggtcggagaggtcca	13	15	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:138712780C>G	uc004cgr.3	-	11	3727	c.3727G>C	c.(3727-3729)GCC>CCC	p.A1243P	CAMSAP1_uc004cgq.3_Missense_Mutation_p.A1133P|CAMSAP1_uc010nbg.2_Missense_Mutation_p.A965P	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1243						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCGTCGGGGGCCTTCAGGTCG	0.627													G	138712780	C	G	138712780	3	3	20	1	0	0	0	0	1	0	0	0	2611	739	26	5	1109	5	CAMSAP1	9	138712780	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	935043	138712780	2500651	1049	18720											
UBAC1	10422	broad.mit.edu	37	chr9	138847166	138847166	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctggatgttctcttccagGatggtcctggcatcactcag	10	12	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:138847166G>A	uc004cgt.2	-	2	452	c.234C>T	c.(232-234)ATC>ATT	p.I78I	UBAC1_uc004cgs.1_Silent_p.I78I|UBAC1_uc004cgu.2_RNA	NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	ubiquitin associated domain containing 1	78	Ubiquitin-like.					Golgi apparatus|plasma membrane	protein binding			skin(2)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		TCTCTTCCAGGATGGTCCTGG	0.582													A	138847166	G	A	138847166	2	1	20	1	0	0	0	0	0	0	0	1	16831	1164	41	4		4	UBAC1	9	138847166	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	134386	138847166	2366265	1050	18721											
NOTCH1	4851	broad.mit.edu	37	chr9	139396735	139396735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgctcacttgaggcccacGgagtcctcgccgaggggctc	13	16	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:139396735G>A	uc004chz.2	-	28	5373	c.5373C>T	c.(5371-5373)TCC>TCT	p.S1791S		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1791	Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGAGGCCCACGGAGTCCTCGC	0.701			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			A	139396735	G	A	139396735	2	1	20	1	0	0	0	0	0	0	0	1	10547	1103	39	1		1	NOTCH1	9	139396735	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	549569	139396735	1816696	1051	18722											
LCN8	138307	broad.mit.edu	37	chr9	139649870	139649870	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggccaagcttactaaagtActtgaggacgcgaaagttcc	11	9	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:139649870A>G	uc004cjb.1	-	4	674	c.325T>C	c.(325-327)TAC>CAC	p.Y109H	LCN8_uc004cja.2_RNA	NM_178469	NP_848564	Q6JVE9	LCN8_HUMAN	lipocalin 8	132					transport	extracellular region	binding			pancreas(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		TTACTAAAGTACTTGAGGACG	0.652													G	139649870	A	G	139649870	3	3	20	1	0	0	0	0	1	0	0	0	8686	391	14	3	149	3	LCN8	9	139649870	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	253135	139649870	1563561	1052	18723											
ABCA2	20	broad.mit.edu	37	chr9	139911742	139911742	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtagctcaggaagtagatgAtgccaccgcaggccgaggcc	14	12	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:139911742A>G	uc011mem.1	-	17	2604	c.2456T>C	c.(2455-2457)ATC>ACC	p.I819T	ABCA2_uc011mel.1_Missense_Mutation_p.I820T|ABCA2_uc004ckl.1_Missense_Mutation_p.I750T|ABCA2_uc004ckm.1_Missense_Mutation_p.I850T|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	819	Helical; (Potential).				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAAGTAGATGATGCCACCGCA	0.632													G	139911742	A	G	139911742	3	3	20	1	0	0	0	0	1	0	0	0	32	333	12	3	4979	3	ABCA2	9	139911742	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	261872	139911742	1301689	1053	18724											
ENTPD2	954	broad.mit.edu	37	chr9	139945517	139945517	+	Frame_Shift_Del	DEL	C	C	-													aagtgatctgggtagaggcaCcccccaggtccatggccccc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:139945516_139945516AC>A	uc004ckw.2	-	4	666	c.612_612GT>T	c.(610-612)ggtfs	p.G204fs	ENTPD2_uc004ckv.2_5'Flank|ENTPD2_uc022bqb.1_5'Flank|ENTPD2_uc004ckx.2_Frame_Shift_Del_p.G204fs	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 2 (ENTPD2), transcript variant 1, mRNA.	204						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGGTAGAGGCACCCCCCAGGT	0.647													-	139945517	C	-	139945517	7	5	20	1	0	1	0	1	0	0	0	0	5139	507	18	0	896	0	ENTPD2	9	139945517	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	33775	139945517	1267914	1054	18725											
MAN1B1	11253	broad.mit.edu	37	chr9	140002104	140002104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gattctgcagagcttcagccGattcacacgggtgagcacct	11	12	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:140002104G>A	uc004cld.2	+	12	1921	c.1886G>A	c.(1885-1887)CGA>CAA	p.R629Q	MAN1B1_uc011mep.1_Missense_Mutation_p.R629Q|MAN1B1_uc010ncc.2_RNA|MAN1B1_uc004clf.1_Missense_Mutation_p.R302Q|MAN1B1_uc004clg.1_RNA	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	alpha 1,2-mannosidase	629	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		AGCTTCAGCCGATTCACACGG	0.667													A	140002104	G	A	140002104	3	1	20	1	0	0	0	0	1	0	0	0	9212	1058	37	1	1932	1	MAN1B1	9	140002104	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	56587	140002104	1211327	1055	18726											
DPP7	29952	broad.mit.edu	37	chr9	140005118	140005118	+	Frame_Shift_Del	DEL	C	C	-													gctcagaggctgagtctgggCcccccacgcagagctggctg					rs11391519		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:140005117_140005117GC>G	uc004clh.3	-	12	1492	c.1462_1462GC>C	c.(1462-1464)cccfs	p.P488fs		NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	Homo sapiens dipeptidyl-peptidase 7 (DPP7), mRNA.	488						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		CTGAGTCTGGGCCCCCCACGC	0.647													-	140005118	C	-	140005118	7	5	20	1	0	1	0	1	0	0	0	0	4731	726	26	0	21	0	DPP7	9	140005118	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	3014	140005118	1208313	1056	18727											
NELF	26012	broad.mit.edu	37	chr9	140348239	140348239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggggtcgctccaggacCggctgaagctccgctcgcgc	17	14	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:140348239C>T	uc004cna.2	-	8	1098	c.866G>A	c.(865-867)CGG>CAG	p.R289Q	C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_Missense_Mutation_p.R86Q|NELF_uc010nci.2_Intron|NELF_uc011mey.1_Intron|NELF_uc011mez.1_Missense_Mutation_p.R266Q|NELF_uc004cmz.2_Missense_Mutation_p.R287Q|NELF_uc004cnc.2_Missense_Mutation_p.R264Q|NELF_uc004cnb.2_Intron	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	nasal embryonic LHRH factor isoform a	289						nucleus|plasma membrane					0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)		GCTCCAGGACCGGCTGAAGCT	0.697													T	140348239	C	T	140348239	3	4	20	1	0	0	0	0	1	0	0	0	10332	652	23	1	762	1	NELF	9	140348239	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	343121	140348239	865192	1057	18728											
EHMT1	79813	broad.mit.edu	37	chr9	140611142	140611142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaggcccacatggctgcGgacggtgagaccaatgggtc	17	10	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:140611142G>A	uc011mfc.1	+	3	187	c.150G>A	c.(148-150)GCG>GCA	p.A50A	EHMT1_uc004coa.2_Silent_p.A50A|EHMT1_uc004cob.1_Silent_p.A19A	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	50					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACATGGCTGCGGACGGTGAGA	0.562													A	140611142	G	A	140611142	2	1	20	1	0	0	0	0	0	0	0	1	4983	1103	39	1		1	EHMT1	9	140611142	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	262903	140611142	602289	1058	18729											
IL2RA	3559	broad.mit.edu	37	chr10	6061429	6061429	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaaatatggacgtctccAtggttgcagccatttctgtc	9	9	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:6061429A>G	uc001iiz.1	-	6	848	c.689T>C	c.(688-690)ATG>ACG	p.M230T	IL2RA_uc009xih.1_Missense_Mutation_p.M158T|IL2RA_uc001ija.1_Missense_Mutation_p.M96T	NM_000417	NP_000408	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha chain precursor	230	Extracellular (Potential).				cell proliferation	integral to membrane	interleukin-2 receptor activity			ovary(1)|skin(1)	2					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGACGTCTCCATGGTTGCAGC	0.443													G	6061429	A	G	6061429	3	3	20	1	0	0	0	0	1	0	0	0	7686	217	8	3	141	3	IL2RA	10	6061429	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08		6061429	129473318	1059	18730											
ITIH5	80760	broad.mit.edu	37	chr10	7618459	7618459	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctctgcaccaccggttcGggtcccatggcagccgacat	11	16	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:7618459G>A	uc001ijq.2	-	10	2014	c.1935C>T	c.(1933-1935)CCC>CCT	p.P645P	ITIH5_uc001ijp.2_Silent_p.P431P|ITIH5_uc001ijr.1_Silent_p.P645P	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	645					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						CCACCGGTTCGGGTCCCATGG	0.677													A	7618459	G	A	7618459	2	1	20	1	0	0	0	0	0	0	0	1	7907	1103	39	1		1	ITIH5	10	7618459	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1557030	7618459	127916288	1060	18731											
ITIH5	80760	broad.mit.edu	37	chr10	7618934	7618934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggggggataatcgatgCggatgtcagagaggagcggg	20	5	1	1	rs112992012	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:7618934C>T	uc001ijq.2	-	10	1539	c.1460G>A	c.(1459-1461)CGC>CAC	p.R487H	ITIH5_uc001ijp.2_Missense_Mutation_p.R273H|ITIH5_uc001ijr.1_Missense_Mutation_p.R487H	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	487					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						ATAATCGATGCGGATGTCAGA	0.592													T	7618934	C	T	7618934	3	4	20	1	0	0	0	0	1	0	0	0	7907	768	27	1	1511	1	ITIH5	10	7618934	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	475	7618934	127915813	1061	18732											
TAF3	83860	broad.mit.edu	37	chr10	8055793	8055793	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgacgactgcgatgactggTaccactggtgagtgcccagg	15	10	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:8055793T>C	uc010qbd.1	+	6	2668	c.2668T>C	c.(2668-2670)TAC>CAC	p.Y890H		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	890	PHD-type.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1						CGATGACTGGTACCACTGGTG	0.577													C	8055793	T	C	8055793	3	2	20	1	0	0	0	0	1	0	0	0	15522	1638	57	3	2690	3	TAF3	10	8055793	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	436859	8055793	127478954	1062	18733											
MCM10	55388	broad.mit.edu	37	chr10	13231078	13231078	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcctcgtatgcagcttcAatgtaagacgttctcgggct	10	11	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:13231078A>G	uc001ima.2	+	10	1517	c.1416A>G	c.(1414-1416)TCA>TCG	p.S472S	MCM10_uc001imb.2_Silent_p.S471S|MCM10_uc001imc.2_Silent_p.S471S	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	472					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						ATGCAGCTTCAATGTAAGACG	0.473													G	13231078	A	G	13231078	2	3	20	1	0	0	0	0	0	0	0	1	9385	117	5	3		3	MCM10	10	13231078	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	5175285	13231078	122303669	1063	18734											
FRMD4A	55691	broad.mit.edu	37	chr10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-													ggatgtggtgggggctgcttGggggggtggctccaatttca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:13696451_13696451TG>T	uc001ims.3	-	22	3367	c.3015_3015CA>A	c.(3013-3015)ccafs	p.P1005fs	PRPF18_uc001imq.3_Intron|FRMD4A_uc009xjf.1_Frame_Shift_Del_p.P1005fs	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	1005	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGG	0.532													-	13696452	G	-	13696452	7	5	20	1	0	1	0	1	0	0	0	0	6051	1348	47	0	113	0	FRMD4A	10	13696452	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	465374	13696452	121838295	1064	18735											
RPP38	10557	broad.mit.edu	37	chr10	15145991	15145991	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagactgaacctctggaaagCcaagacagagagcttttgga	12	8	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:15145991C>A	uc001iny.3	+	3	1391	c.678C>A	c.(676-678)AGC>AGA	p.S226R	RPP38_uc009xjm.2_Missense_Mutation_p.S226R|RPP38_uc001inx.3_Missense_Mutation_p.S226R	NM_183005	NP_892117	P78345	RPP38_HUMAN	ribonuclease P/MRP 38 subunit	226					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			ovary(1)	1						CTCTGGAAAGCCAAGACAGAG	0.443													A	15145991	C	A	15145991	3	1	20	1	0	0	0	0	1	0	0	0	13613	738	26	5	680	5	RPP38	10	15145991	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1449539	15145991	120388756	1065	18736											
FAM171A1	221061	broad.mit.edu	37	chr10	15255974	15255974	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcgcgacatcatacatTcagtgggtctgcggtccagc	11	12	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:15255974T>C	uc001iob.2	-	8	1620	c.1613A>G	c.(1612-1614)GAA>GGA	p.E538G		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	538	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						CATCATACATTCAGTGGGTCT	0.557													C	15255974	T	C	15255974	3	2	20	1	0	0	0	0	1	0	0	0	5490	1783	62	3	1063	3	FAM171A1	10	15255974	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	109983	15255974	120278773	1066	18737											
PTER	9317	broad.mit.edu	37	chr10	16526546	16526546	+	Frame_Shift_Del	DEL	A	A	-													ccaaagaacctatcgtgatgAaaaatttatattggattcag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:16526545_16526545GA>G	uc001iog.1	+	2	369	c.162_162GA>G	c.(160-162)atgfs	p.M54fs	PTER_uc001ioh.1_Frame_Shift_Del_p.M54fs|PTER_uc001ioi.1_Frame_Shift_Del_p.M54fs|PTER_uc009xjp.1_Frame_Shift_Del_p.M54fs	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	Homo sapiens phosphotriesterase related (PTER), transcript variant 2, mRNA.	54					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						CTATCGTGATGAAAAATTTAT	0.423													-	16526546	A	-	16526546	7	5	20	1	0	1	0	1	0	0	0	0	12739	247	9	0	165	0	PTER	10	16526546	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	1270572	16526546	119008201	1067	18738											
CUBN	8029	broad.mit.edu	37	chr10	17113457	17113457	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcacagtgggcagaacTtccaatttcaaagacagtga	9	8	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:17113457T>G	uc001ioo.2	-	19	2645	c.2593A>C	c.(2593-2595)AGT>CGT	p.S865R		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	865	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGGCAGAACTTCCAATTTCA	0.383													G	17113457	T	G	17113457	3	3	20	1	0	0	0	0	1	0	0	0	4051	1609	56	5	8474	5	CUBN	10	17113457	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	586911	17113457	118421290	1068	18739											
STAM	8027	broad.mit.edu	37	chr10	17756586	17756586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacacatatcccagccaggCgccagtatatagtcctcctc	6	15	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:17756586C>T	uc001ipj.1	+	14	1646	c.1430C>T	c.(1429-1431)GCG>GTG	p.A477V	STAM_uc009xjw.1_Missense_Mutation_p.A135V	NM_003473	NP_003464	Q92783	STAM1_HUMAN	signal transducing adaptor molecule 1	477					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			large_intestine(1)|ovary(1)	2						CCCAGCCAGGCGCCAGTATAT	0.478													T	17756586	C	T	17756586	3	4	20	1	0	0	0	0	1	0	0	0	15247	768	27	1	1484	1	STAM	10	17756586	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	643129	17756586	117778161	1069	18740											
SLC39A12	221074	broad.mit.edu	37	chr10	18292281	18292281	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttatatttatccttggtTgaaatggtaagcttggtggc	10	5	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:18292281T>C	uc001ipo.2	+	12	2214	c.1941T>C	c.(1939-1941)GTT>GTC	p.V647V	SLC39A12_uc001ipn.2_Silent_p.V610V|SLC39A12_uc001ipp.2_Silent_p.V646V|SLC39A12_uc010qck.1_Silent_p.V513V|uc001ipq.1_RNA	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	647	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						TATCCTTGGTTGAAATGGTAA	0.363													C	18292281	T	C	18292281	2	2	20	1	0	0	0	0	0	0	0	1	14615	1799	63	3		3	SLC39A12	10	18292281	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	535695	18292281	117242466	1070	18741											
MLLT10	8028	broad.mit.edu	37	chr10	22021968	22021968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttttccaacaataacaGcaaatcctagtccgtctcat	4	13	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:22021968G>A	uc001iqs.2	+	19	2755	c.2407G>A	c.(2407-2409)GCA>ACA	p.A803T	MLLT10_uc001iqt.2_Missense_Mutation_p.A787T|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.A787T|MLLT10_uc001ira.2_Missense_Mutation_p.A244T|MLLT10_uc001irb.2_RNA	NM_004641	NP_004632	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	803					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(1)|skin(1)	2						AACAATAACAGCAAATCCTAG	0.353			T	MLL|PICALM|CDK6	AL								A	22021968	G	A	22021968	3	1	20	1	0	0	0	0	1	0	0	0	9626	971	34	2	2477	2	MLLT10	10	22021968	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3729687	22021968	113512779	1071	18742											
ARHGAP21	57584	broad.mit.edu	37	chr10	24880871	24880871	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcatgtgggtgaccatgTgggtcatgttgtcttctgat	14	7	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:24880871T>C	uc001isb.2	-	22	4434	c.3947A>G	c.(3946-3948)CAC>CGC	p.H1316R	ARHGAP21_uc010qdb.1_RNA	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1315	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						GGTGACCATGTGGGTCATGTT	0.448													C	24880871	T	C	24880871	3	2	20	1	0	0	0	0	1	0	0	0	871	1696	59	3	1949	3	ARHGAP21	10	24880871	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2858903	24880871	110653876	1072	18743											
ABI1	10006	broad.mit.edu	37	chr10	27066140	27066140	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaataccaatctctcttcGtgccactttctccttatgaa	3	13	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:27066140G>A	uc001isx.2	-	3	483	c.316C>T	c.(316-318)CGA>TGA	p.R106*	ABI1_uc001ite.2_Nonsense_Mutation_p.R106*|ABI1_uc010qdh.1_Nonsense_Mutation_p.R106*|ABI1_uc010qdi.1_Intron|ABI1_uc001isy.2_Nonsense_Mutation_p.R106*|ABI1_uc001ita.2_Nonsense_Mutation_p.R106*|ABI1_uc001isz.2_Nonsense_Mutation_p.R106*|ABI1_uc001itb.2_Nonsense_Mutation_p.R123*|ABI1_uc001itc.2_Nonsense_Mutation_p.R106*|ABI1_uc010qdj.1_Nonsense_Mutation_p.R106*|ABI1_uc001itd.2_Nonsense_Mutation_p.R106*|ABI1_uc010qdk.1_Nonsense_Mutation_p.R106*|ABI1_uc010qdg.1_Translation_Start_Site	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	abl-interactor 1 isoform a	106	t-SNARE coiled-coil homology.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)	1						ATCTCTCTTCGTGCCACTTTC	0.328													A	27066140	G	A	27066140	4	1	20	1	0	0	0	0	0	1	0	0	88	1153	40	1	1250	1	ABI1	10	27066140	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2185269	27066140	108468607	1073	18744											
ACBD5	91452	broad.mit.edu	37	chr10	27512341	27512341	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggacctatgacacgcagcAattcttcaactttctcagtc	6	12	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:27512341A>G	uc010qdp.1	-	5	607	c.416T>C	c.(415-417)TTG>TCG	p.L139S	ACBD5_uc010qdm.1_Missense_Mutation_p.L137S|ACBD5_uc010qdn.1_Missense_Mutation_p.L30S|ACBD5_uc010qdo.1_Missense_Mutation_p.L30S|ACBD5_uc001ito.2_Missense_Mutation_p.L104S|ACBD5_uc001itp.2_Missense_Mutation_p.L30S|ACBD5_uc001itq.2_Missense_Mutation_p.L30S|ACBD5_uc001itr.1_5'UTR	NM_145698	NP_663736	Q5T8D3	ACBD5_HUMAN	acyl-Coenzyme A binding domain containing 5	137					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding				0						GACACGCAGCAATTCTTCAAC	0.328													G	27512341	A	G	27512341	3	3	20	1	0	0	0	0	1	0	0	0	125	131	5	3	1197	3	ACBD5	10	27512341	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	446201	27512341	108022406	1074	18745											
KIAA1462	57608	broad.mit.edu	37	chr10	30316940	30316940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaatgctgcacgactcgGccctcccagctttgcaccag	8	17	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:30316940G>A	uc001iux.2	-	2	2196	c.2137C>T	c.(2137-2139)CCG>TCG	p.P713S	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.P575S|KIAA1462_uc009xle.1_Missense_Mutation_p.P713S	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	713										ovary(4)	4						GCACGACTCGGCCCTCCCAGC	0.572													A	30316940	G	A	30316940	3	1	20	1	0	0	0	0	1	0	0	0	8234	1203	42	2	1950	2	KIAA1462	10	30316940	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2804599	30316940	105217807	1075	18746											
KIF5B	3799	broad.mit.edu	37	chr10	32311826	32311826	+	Frame_Shift_Del	DEL	T	T	-													ctccttttcattttcttccaTttttttgttgctctcagttt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:32311825_32311825AT>A	uc001iwe.4	-	15	2335	c.1865_1865AT>T	c.(1864-1866)atgfs	p.M622fs		NM_004521	NP_004512	P33176	KINH_HUMAN	Homo sapiens kinesin family member 5B (KIF5B), mRNA.	622					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				ATTTTCTTCCATTTTTTTGTT	0.348			T	"RET, ALK"	NSCLC								-	32311826	T	-	32311826	7	5	20	1	0	1	0	1	0	0	0	0	8306	1493	52	0	1067	0	KIF5B	10	32311826	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	1994886	32311826	103222921	1076	18747											
NRP1	8829	broad.mit.edu	37	chr10	33491868	33491868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggcagttggcctggtcGtcatcacattcatccaccaa	9	13	3	0	rs148913335		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:33491868G>A	uc001iwx.3	-	11	2338	c.1815C>T	c.(1813-1815)GAC>GAT	p.D605D	NRP1_uc001iwv.3_Silent_p.D605D|NRP1_uc009xlz.2_Silent_p.D605D|NRP1_uc001iww.3_Silent_p.D424D|NRP1_uc001iwy.3_Silent_p.D605D|NRP1_uc001iwz.2_Silent_p.D605D|NRP1_uc001ixa.2_Intron|NRP1_uc001ixb.1_Silent_p.D605D	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	605	Extracellular (Potential).				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	TGGCCTGGTCGTCATCACATT	0.483													A	33491868	G	A	33491868	2	1	20	1	0	0	0	0	0	0	0	1	10660	1136	40	1		1	NRP1	10	33491868	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1180042	33491868	102042879	1077	18748											
GJD4	219770	broad.mit.edu	37	chr10	35897554	35897554	+	Frame_Shift_Del	DEL	A	A	-													aggaagtctgagtgggtgtgAaaaaaacagcacctggcggt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:35897554delA	uc001iyy.1	+	2	1271	c.1113delA	c.(1111-1113)TGAfs	p.*371fs		NM_153368	NP_699199	Q96KN9	CXD4_HUMAN	connexin40.1	371					cell communication	connexon complex|integral to membrane				large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						AGTGGGTGTGAAAAAAACAGC	0.433													-	35897554	A	-	35897554	7	5	20	1	0	1	0	1	0	0	0	0	6419	259	9	0	1119	0	GJD4	10	35897554	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	2405686	35897554	99637193	1078	18749											
ZNF33B	7582	broad.mit.edu	37	chr10	43089408	43089408	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttcccacattcattacaTtcaaagtgtttctctccttt	3	12	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:43089408T>C	uc001jaf.1	-	5	1105	c.990A>G	c.(988-990)GAA>GAG	p.E330E	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.E218E|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	330	C2H2-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ATTCATTACATTCAAAGTGTT	0.408													C	43089408	T	C	43089408	2	2	20	1	0	0	0	0	0	0	0	1	17852	1490	52	3		3	ZNF33B	10	43089408	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	7191854	43089408	92445339	1079	18750											
C10orf71	118461	broad.mit.edu	37	chr10	50530925	50530925	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgttcagggagaggaaaagtAccccaaaaccagccccccac	9	15	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:50530925A>G	uc010qgp.1	+	3	674	c.335A>G	c.(334-336)TAC>TGC	p.Y112C		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	112											0						GAGGAAAAGTACCCCAAAACC	0.567													G	50530925	A	G	50530925	3	3	20	1	0	0	0	0	1	0	0	0	1614	391	14	3	337	3	C10orf71	10	50530925	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	7441517	50530925	85003822	1080	18751											
ERCC6	2074	broad.mit.edu	37	chr10	50678712	50678712	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcattgctagttacattactActcatgtgagggtcatcttt	7	8	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:50678712A>G	uc001jhs.3	-	18	3448	c.3294T>C	c.(3292-3294)AGT>AGC	p.S1098S	ERCC6_uc009xod.2_Silent_p.S258S|ERCC6_uc010qgr.1_Silent_p.S468S|ERCC6_uc001jhr.3_Silent_p.S466S	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	1098					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						TTACATTACTACTCATGTGAG	0.398								Direct_reversal_of_damage|NER					G	50678712	A	G	50678712	2	3	20	1	0	0	0	0	0	0	0	1	5217	388	14	3		3	ERCC6	10	50678712	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	147787	50678712	84856035	1081	18752											
CSTF2T	23283	broad.mit.edu	37	chr10	53458101	53458101	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaccatccataggtagaccCctttgatctatcatggggcc	8	13	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:53458101C>A	uc001jjp.2	-	1	1255	c.1209G>T	c.(1207-1209)AGG>AGT	p.R403S	PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit	403	Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			ovary(1)	1				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TAGGTAGACCCCTTTGATCTA	0.527													A	53458101	C	A	53458101	3	1	20	1	0	0	0	0	1	0	0	0	3985	622	22	5	645	5	CSTF2T	10	53458101	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2779389	53458101	82076646	1082	18753											
PCDH15	65217	broad.mit.edu	37	chr10	55782925	55782925	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacccaaactgtagtgcacTtgaccatttattccagcatc	5	12	0	1	rs74905541		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:55782925T>G	uc001jju.1	-	19	2648	c.2253A>C	c.(2251-2253)CAA>CAC	p.Q751H	PCDH15_uc010qhq.1_Missense_Mutation_p.Q756H|PCDH15_uc010qhr.1_Missense_Mutation_p.Q751H|PCDH15_uc010qhs.1_Missense_Mutation_p.Q763H|PCDH15_uc010qht.1_Missense_Mutation_p.Q758H|PCDH15_uc010qhu.1_Missense_Mutation_p.Q751H|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.Q751H|PCDH15_uc010qhw.1_Missense_Mutation_p.Q714H|PCDH15_uc010qhx.1_Missense_Mutation_p.Q680H|PCDH15_uc010qhy.1_Missense_Mutation_p.Q756H|PCDH15_uc010qhz.1_Missense_Mutation_p.Q751H|PCDH15_uc010qia.1_Missense_Mutation_p.Q729H|PCDH15_uc010qib.1_Missense_Mutation_p.Q729H|PCDH15_uc001jjw.2_Missense_Mutation_p.Q751H	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	751	Extracellular (Potential).|Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TGTAGTGCACTTGACCATTTA	0.363										HNSCC(58;0.16)			G	55782925	T	G	55782925	3	3	20	1	0	0	0	0	1	0	0	0	11511	1606	56	5	5293	5	PCDH15	10	55782925	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2324824	55782925	79751822	1083	18754											
ANK3	288	broad.mit.edu	37	chr10	61831056	61831056	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggaattgggctgggtttgcCtggtatataagctatgagcg	16	5	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:61831056C>A	uc001jky.2	-	37	9775	c.9583G>T	c.(9583-9585)GGC>TGC	p.G3195C	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	3195					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CTGGGTTTGCCTGGTATATAA	0.488													A	61831056	C	A	61831056	3	1	20	1	0	0	0	0	1	0	0	0	622	681	24	5	3891	5	ANK3	10	61831056	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	6048131	61831056	73703691	1084	18755											
ARID5B	84159	broad.mit.edu	37	chr10	63759903	63759903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagctacccccagtactgcCggtaccgctcgatgctgaaa	9	15	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:63759903C>T	uc001jlt.1	+	4	582	c.556C>T	c.(556-558)CGG>TGG	p.R186W	ARID5B_uc010qil.1_Missense_Mutation_p.R186W	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	186					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					CCAGTACTGCCGGTACCGCTC	0.522													T	63759903	C	T	63759903	3	4	20	1	0	0	0	0	1	0	0	0	922	643	23	1	570	1	ARID5B	10	63759903	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1928847	63759903	71774844	1085	18756											
JMJD1C	221037	broad.mit.edu	37	chr10	64966978	64966978	+	Frame_Shift_Del	DEL	T	T	-													cagccaatgctgccttgtgcTtttttaaatggataaaatca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:64966977_64966977CT>C	uc001jmn.3	-	9	4752	c.4452_4452AG>G	c.(4450-4452)aagfs	p.K1484fs	JMJD1C_uc001jml.3_Frame_Shift_Del_p.K1265fs|JMJD1C_uc001jmm.3_Frame_Shift_Del_p.K1196fs|JMJD1C_uc010qiq.2_Frame_Shift_Del_p.K1302fs|JMJD1C_uc009xpi.3_Frame_Shift_Del_p.K1302fs|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Frame_Shift_Del_p.K521fs	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1484					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTGCCTTGTGCTTTTTTAAAT	0.433													-	64966978	T	-	64966978	7	5	20	1	0	1	0	1	0	0	0	0	7950	1609	56	0	3239	0	JMJD1C	10	64966978	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	1207075	64966978	70567769	1086	18757											
JMJD1C	221037	broad.mit.edu	37	chr10	64967949	64967949	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgttctggtatcttgccTactaaaccttcactttctgg	7	10	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:64967949T>C	uc001jmn.2	-	10	3780	c.3480A>G	c.(3478-3480)GTA>GTG	p.V1160V	JMJD1C_uc001jml.2_Silent_p.V941V|JMJD1C_uc001jmm.2_Silent_p.V872V|JMJD1C_uc010qiq.1_Silent_p.V978V|JMJD1C_uc009xpi.2_Silent_p.V978V|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Silent_p.V197V	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1160					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GTATCTTGCCTACTAAACCTT	0.408													C	64967949	T	C	64967949	2	2	20	1	0	0	0	0	0	0	0	1	7950	1509	53	3		3	JMJD1C	10	64967949	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	971	64967949	70566798	1087	18758											
JMJD1C	221037	broad.mit.edu	37	chr10	64979741	64979741	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtttaggctgtctatgtcGtcctagaattatagattaaa	10	5	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:64979741G>A	uc001jmn.2	-	4	750	c.450C>T	c.(448-450)GAC>GAT	p.D150D	JMJD1C_uc001jml.2_Intron|JMJD1C_uc001jmm.2_Translation_Start_Site|JMJD1C_uc010qiq.1_Translation_Start_Site|JMJD1C_uc009xpi.2_Translation_Start_Site|JMJD1C_uc009xpj.1_Intron|JMJD1C_uc001jmp.1_Intron	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	150					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGTCTATGTCGTCCTAGAATT	0.413													A	64979741	G	A	64979741	2	1	20	1	0	0	0	0	0	0	0	1	7950	1136	40	1		1	JMJD1C	10	64979741	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	11792	64979741	70555006	1088	18759											
DNA2	1763	broad.mit.edu	37	chr10	70225564	70225564	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttggcgtgtggctggatcAgagctctacaaaagcaaatc	11	8	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:70225564A>G	uc001jof.2	-	4	705	c.705T>C	c.(703-705)TCT>TCC	p.S235S	DNA2_uc001jog.1_Silent_p.S149S|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	149					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						TGGCTGGATCAGAGCTCTACA	0.338													G	70225564	A	G	70225564	2	3	20	1	0	0	0	0	0	0	0	1	4596	175	7	3		3	DNA2	10	70225564	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	5245823	70225564	65309183	1089	18760											
HK1	3098	broad.mit.edu	37	chr10	71158430	71158430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgatgacagtatcctcGtcaagacagtgtgcggggtg	14	10	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:71158430G>A	uc001jpl.3	+	17	2556	c.2455G>A	c.(2455-2457)GTC>ATC	p.V819I	HK1_uc001jpg.3_Missense_Mutation_p.V807I|HK1_uc001jph.3_Missense_Mutation_p.V823I|HK1_uc001jpi.3_Missense_Mutation_p.V823I|HK1_uc001jpj.3_Missense_Mutation_p.V854I|HK1_uc001jpk.3_Missense_Mutation_p.V818I	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	819	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						CAGTATCCTCGTCAAGACAGT	0.597													A	71158430	G	A	71158430	3	1	20	1	0	0	0	0	1	0	0	0	7190	1145	40	1	2699	1	HK1	10	71158430	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	932866	71158430	64376317	1090	18761											
UNC5B	219699	broad.mit.edu	37	chr10	73059019	73059019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctggtggctgtggccacCgacggggactgctgagcctc	16	12	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:73059019C>T	uc001jro.2	+	17	3268	c.2823C>T	c.(2821-2823)ACC>ACT	p.T941T	UNC5B_uc001jrp.2_Silent_p.T930T|UNC5B_uc001jrq.1_5'Flank	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	941	Cytoplasmic (Potential).|Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						CTGTGGCCACCGACGGGGACT	0.662													T	73059019	C	T	73059019	2	4	20	1	0	0	0	0	0	0	0	1	16989	639	23	1		1	UNC5B	10	73059019	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1900589	73059019	62475728	1091	18762											
NUDT13	25961	broad.mit.edu	37	chr10	74890516	74890516	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctggttcagtcatgatgaggTagccacagccctgaagagaa	12	9	2	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:74890516T>A	uc001jtj.2	+	9	1039	c.914T>A	c.(913-915)GTA>GAA	p.V305E	NUDT13_uc010qkc.1_Missense_Mutation_p.V179E|NUDT13_uc010qkd.1_Missense_Mutation_p.V108E|NUDT13_uc009xqw.2_RNA|NUDT13_uc001jtk.2_3'UTR|NUDT13_uc010qke.1_Missense_Mutation_p.V108E|NUDT13_uc001jtl.2_Missense_Mutation_p.V216E	NM_015901	NP_056985	Q86X67	NUD13_HUMAN	nudix-type motif 13	305	Nudix hydrolase.						hydrolase activity|metal ion binding				0	Prostate(51;0.0119)					CATGATGAGGTAGCCACAGCC	0.483													A	74890516	T	A	74890516	3	1	20	1	0	0	0	0	1	0	0	0	10729	1638	57	5	944	5	NUDT13	10	74890516	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1831497	74890516	60644231	1092	18763											
PLAU	5328	broad.mit.edu	37	chr10	75676249	75676249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgaaggacaagccaggcGtctacacgagagtctcacac	10	14	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:75676249G>A	uc001jwa.2	+	11	1368	c.1222G>A	c.(1222-1224)GTC>ATC	p.V408I	C10orf55_uc001jvz.1_Intron|PLAU_uc010qkw.1_Missense_Mutation_p.V391I|PLAU_uc010qkx.1_Missense_Mutation_p.V322I|PLAU_uc001jwb.2_RNA|PLAU_uc001jwc.2_Missense_Mutation_p.V408I|PLAU_uc009xrq.1_Missense_Mutation_p.V372I	NM_002658	NP_002649	P00749	UROK_HUMAN	plasminogen activator, urokinase isoform 1	408	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(2)|kidney(1)	3	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	CAAGCCAGGCGTCTACACGAG	0.602													A	75676249	G	A	75676249	3	1	20	1	0	0	0	0	1	0	0	0	12022	1145	40	1	1298	1	PLAU	10	75676249	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	785733	75676249	59858498	1093	18764											
VCL	7414	broad.mit.edu	37	chr10	75871668	75871668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcccgccatcgacaaagcCgggcatcccagccgctgagg	11	17	0	1	rs143321584		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:75871668C>T	uc001jwd.2	+	19	2841	c.2747C>T	c.(2746-2748)CCG>CTG	p.P916L	VCL_uc009xrr.2_Intron|VCL_uc010qky.1_Missense_Mutation_p.P823L|VCL_uc001jwe.2_Intron|VCL_uc010qkz.1_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	916	C-terminal tail.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)					TCGACAAAGCCGGGCATCCCA	0.542													T	75871668	C	T	75871668	3	4	20	1	0	0	0	0	1	0	0	0	17136	666	23	1	2821	1	VCL	10	75871668	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	195419	75871668	59663079	1094	18765											
MYST4	23522	broad.mit.edu	37	chr10	76781836	76781836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagcagtgaagaagaagaGgaggaggaggacgaggagga	21	2	0	5			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:76781836G>A	uc001jwn.1	+	16	3712	c.3219G>A	c.(3217-3219)GAG>GAA	p.E1073E	MYST4_uc001jwm.1_Silent_p.E781E|MYST4_uc001jwo.1_Silent_p.E781E|MYST4_uc001jwp.1_Silent_p.E890E	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1073	Poly-Glu.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					aagaagaagaggaggaggagg	0.239			T	CREBBP	AML						OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	76781836	G	A	76781836	2	1	20	1	0	0	0	0	0	0	0	1	10105	991	35	4		4	MYST4	10	76781836	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	910168	76781836	58752911	1095	18766											
MYST4	23522	broad.mit.edu	37	chr10	76789488	76789488	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcccagatcaaagtgccAtctcagtgccatctctgcag	8	14	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:76789488A>G	uc001jwn.1	+	18	5399	c.4906A>G	c.(4906-4908)ATC>GTC	p.I1636V	MYST4_uc001jwo.1_Missense_Mutation_p.I1344V|MYST4_uc001jwp.1_Missense_Mutation_p.I1453V	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1636	Ser-rich.|Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					TCAAAGTGCCATCTCAGTGCC	0.512			T	CREBBP	AML								G	76789488	A	G	76789488	3	3	20	1	0	0	0	0	1	0	0	0	10105	217	8	3	4968	3	MYST4	10	76789488	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	7652	76789488	58745259	1096	18767											
MYST4	23522	broad.mit.edu	37	chr10	76789800	76789800	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatgctgcagcaaaccagcAtcagctcccctccgacctgc	8	18	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:76789800A>C	uc001jwn.1	+	18	5711	c.5218A>C	c.(5218-5220)ATC>CTC	p.I1740L	MYST4_uc001jwo.1_Missense_Mutation_p.I1448L|MYST4_uc001jwp.1_Missense_Mutation_p.I1557L	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1740	Ser-rich.|Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					GCAAACCAGCATCAGCTCCCC	0.612			T	CREBBP	AML								C	76789800	A	C	76789800	3	2	20	1	0	0	0	0	1	0	0	0	10105	217	8	5	5280	5	MYST4	10	76789800	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	312	76789800	58744947	1097	18768											
SAMD8	142891	broad.mit.edu	37	chr10	76910314	76910314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcctaatcaactctgcattCgccgctggactaccaagcat	7	14	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:76910314C>T	uc001jwx.1	+	2	131	c.28C>T	c.(28-30)CGC>TGC	p.R10C	SAMD8_uc001jwy.1_Missense_Mutation_p.R10C	NM_144660	NP_653261	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	10					sphingomyelin biosynthetic process	integral to membrane					0	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					ACTCTGCATTCGCCGCTGGAC	0.433													T	76910314	C	T	76910314	3	4	20	1	0	0	0	0	1	0	0	0	13825	884	31	1	30	1	SAMD8	10	76910314	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	120514	76910314	58624433	1098	18769											
SH2D4B	387694	broad.mit.edu	37	chr10	82331288	82331288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagtggagatggaagaccGcaaggctgccaaagtcctgg	15	8	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:82331288G>A	uc001kck.1	+	3	879	c.449G>A	c.(448-450)CGC>CAC	p.R150H	SH2D4B_uc001kcl.1_Missense_Mutation_p.R101H	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B isoform 1	149	Glu-rich.										0			Colorectal(32;0.229)			ATGGAAGACCGCAAGGCTGCC	0.587													A	82331288	G	A	82331288	3	1	20	1	0	0	0	0	1	0	0	0	14236	1087	38	1	500	1	SH2D4B	10	82331288	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	5420974	82331288	53203459	1099	18770											
PTEN	5728	broad.mit.edu	37	chr10	89717770	89717770	+	Frame_Shift_Del	DEL	A	A	-													cacaaacagaacaagatgctAaaaaaggtttgtactttact							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:89717770delA	uc001kfb.2	+	8	1826	c.795delA	c.(793-795)CTAfs	p.L265fs		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	265	C2 tensin-type.			KMLKKDK->AAGAADA: Reduces the growth suppression activity and cells show anchorage-independent growth. Reduces binding to phospholipid membranes in vitro. Phosphatase activity towards PtdIns(3,4,5)P3 is not affected.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.K267fs*9(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.D268fs*30(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACAAGATGCTAAAAAAGGTTT	0.348		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89717770	A	-	89717770	7	5	20	1	0	1	0	1	0	0	0	0	12738	349	13	0	821	0	PTEN	10	89717770	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	7386482	89717770	45816977	1100	18771											
ACTA2	59	broad.mit.edu	37	chr10	90697858	90697858	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgctagggccgtgatctccTtctgcattcggtcggcaatg	13	11	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:90697858T>G	uc001kfp.2	-	8	1066	c.950A>C	c.(949-951)AAG>ACG	p.K317T	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Missense_Mutation_p.K272T|ACTA2_uc001kfq.2_Missense_Mutation_p.K317T|uc001kfo.1_Intron	NM_001613	NP_001604	P62736	ACTA_HUMAN	alpha 2 actin	317					response to virus	cytosol	ATP binding				0		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		CGTGATCTCCTTCTGCATTCG	0.517													G	90697858	T	G	90697858	3	3	20	1	0	0	0	0	1	0	0	0	192	1609	56	5	191	5	ACTA2	10	90697858	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	980088	90697858	44836889	1101	18772											
IFIT2	3433	broad.mit.edu	37	chr10	91066183	91066183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaaccaaaatgaaagagCgaaggtgtgctttgagaagg	14	4	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:91066183C>T	uc009xts.2	+	2	645	c.470C>T	c.(469-471)GCG>GTG	p.A157V	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	interferon-induced protein with	157	TPR 2.				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			ovary(1)|skin(1)	2		Colorectal(252;0.0161)				AATGAAAGAGCGAAGGTGTGC	0.483													T	91066183	C	T	91066183	3	4	20	1	0	0	0	0	1	0	0	0	7523	768	27	1	476	1	IFIT2	10	91066183	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	368325	91066183	44468564	1102	18773											
HTR7	3363	broad.mit.edu	37	chr10	92617193	92617193	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccgatcacaactttctcgActctgccgtagttgatctgt	8	12	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:92617193A>G	uc001kha.2	-	1	479	c.236T>C	c.(235-237)GTC>GCC	p.V79A	HTR7_uc001kgz.2_Missense_Mutation_p.V79A|HTR7_uc001khb.2_Missense_Mutation_p.V79A	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	79	Extracellular (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	AACTTTCTCGACTCTGCCGTA	0.637													G	92617193	A	G	92617193	3	3	20	1	0	0	0	0	1	0	0	0	7452	275	10	3	1223	3	HTR7	10	92617193	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1551010	92617193	42917554	1103	18774											
HHEX	3087	broad.mit.edu	37	chr10	94452214	94452214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctccaacgaccagaccatcGagctggagaagaaattcgag	10	11	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:94452214G>A	uc001kid.2	+	2	514	c.451G>A	c.(451-453)GAG>AAG	p.E151K		NM_002729	NP_002720	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	151	Homeobox.				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding			ovary(1)	1						CCAGACCATCGAGCTGGAGAA	0.577													A	94452214	G	A	94452214	3	1	20	1	0	0	0	0	1	0	0	0	7091	1059	37	1	457	1	HHEX	10	94452214	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1835021	94452214	41082533	1104	18775											
MYOF	26509	broad.mit.edu	37	chr10	95111577	95111577	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtggttttgctccgatGgaggaaacagatatgagcat	12	7	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:95111577G>T	uc001kin.2	-	33	3631	c.3508C>A	c.(3508-3510)CAT>AAT	p.H1170N	MYOF_uc001kio.2_Missense_Mutation_p.H1157N|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1170	Cytoplasmic (Potential).|C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						TTGCTCCGATGGAGGAAACAG	0.438													T	95111577	G	T	95111577	3	4	20	1	0	0	0	0	1	0	0	0	10089	1348	47	5	2765	5	MYOF	10	95111577	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	659363	95111577	40423170	1105	18776											
MYOF	26509	broad.mit.edu	37	chr10	95211875	95211875	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaaagtccagtggtatAcccctcaagtcaaactccaa	7	11	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:95211875A>G	uc001kin.2	-	3	291	c.168T>C	c.(166-168)GGT>GGC	p.G56G	MYOF_uc001kio.2_Silent_p.G56G|MYOF_uc001kip.3_Silent_p.G56G|MYOF_uc009xuf.2_Silent_p.G38G	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	56	C2 1.|Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						CCAGTGGTATACCCCTCAAGT	0.348													G	95211875	A	G	95211875	2	3	20	1	0	0	0	0	0	0	0	1	10089	378	14	3		3	MYOF	10	95211875	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	100298	95211875	40322872	1106	18777											
NOC3L	64318	broad.mit.edu	37	chr10	96098412	96098412	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgttctgagcattgcagtActcaggctcatccagttcag	10	10	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:96098412A>G	uc001kjq.1	-	18	2132	c.2044T>C	c.(2044-2046)TAC>CAC	p.Y682H		NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog	682						nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)				GCATTGCAGTACTCAGGCTCA	0.443													G	96098412	A	G	96098412	3	3	20	1	0	0	0	0	1	0	0	0	10514	391	14	3	374	3	NOC3L	10	96098412	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	886537	96098412	39436335	1107	18778											
PDLIM1	9124	broad.mit.edu	37	chr10	97050611	97050611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggctgctcgaagtccttgCcgcccacgaggcggaagccc	14	15	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:97050611C>T	uc001kkh.2	-	1	171	c.62G>A	c.(61-63)GGC>GAC	p.G21D	PDLIM1_uc001kki.2_Missense_Mutation_p.G21D|PDLIM1_uc009xuv.2_Missense_Mutation_p.G21D|PDLIM1_uc001kkj.1_Missense_Mutation_p.G21D	NM_020992	NP_066272	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	21	PDZ.			G -> R (in Ref. 1; AAC05580).	response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding				0		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GAAGTCCTTGCCGCCCACGAG	0.701													T	97050611	C	T	97050611	3	4	20	1	0	0	0	0	1	0	0	0	11679	739	26	2	955	2	PDLIM1	10	97050611	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	952199	97050611	38484136	1108	18779											
ZDHHC16	84287	broad.mit.edu	37	chr10	99212022	99212022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccaggccatcaccactcCgcctgggtacccaccccagg	8	20	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:99212022C>T	uc001knj.2	+	4	768	c.419C>T	c.(418-420)CCG>CTG	p.P140L	ZDHHC16_uc001knp.2_Missense_Mutation_p.P140L|ZDHHC16_uc001knk.2_Missense_Mutation_p.P140L|ZDHHC16_uc001knl.2_Missense_Mutation_p.P140L|ZDHHC16_uc001knm.2_Intron|ZDHHC16_uc001knn.2_Missense_Mutation_p.P140L|ZDHHC16_uc010qow.1_Missense_Mutation_p.P140L|ZDHHC16_uc009xvq.2_RNA|ZDHHC16_uc001kno.2_Missense_Mutation_p.P140L|ZDHHC16_uc009xvr.2_Missense_Mutation_p.P140L	NM_198046	NP_932163	Q969W1	ZDH16_HUMAN	Abl-philin 2 isoform 1	140	Cytoplasmic (Potential).				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		ATCACCACTCCGCCTGGGTAC	0.562													T	99212022	C	T	99212022	3	4	20	1	0	0	0	0	1	0	0	0	17603	652	23	1	425	1	ZDHHC16	10	99212022	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2161411	99212022	36322725	1109	18780											
PI4K2A	55361	broad.mit.edu	37	chr10	99416585	99416585	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcttggttccaggttggttCattccagctctttgttgaag	10	9	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:99416585C>T	uc001kog.1	+	4	833	c.776C>T	c.(775-777)TCA>TTA	p.S259L	PI4K2A_uc010qoy.1_Missense_Mutation_p.S229L|PI4K2A_uc009xvw.1_5'UTR	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	259	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			lung(1)|skin(1)	2		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		CAGGTTGGTTCATTCCAGCTC	0.473													T	99416585	C	T	99416585	3	4	20	1	0	0	0	0	1	0	0	0	11871	838	29	4	790	4	PI4K2A	10	99416585	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	204563	99416585	36118162	1110	18781											
CRTAC1	55118	broad.mit.edu	37	chr10	99664470	99664470	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcatttgcagatagaggcGgtgggggccattccagttgc	15	9	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:99664470G>T	uc001kou.1	-	7	1308	c.952C>A	c.(952-954)CGC>AGC	p.R318S	CRTAC1_uc001kov.2_Missense_Mutation_p.R307S|CRTAC1_uc001kot.1_Missense_Mutation_p.R108S	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	318	FG-GAP 3; atypical.					proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		AGATAGAGGCGGTGGGGGCCA	0.498													T	99664470	G	T	99664470	3	4	20	1	0	0	0	0	1	0	0	0	3896	1116	39	5	1069	5	CRTAC1	10	99664470	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	247885	99664470	35870277	1111	18782											
NKX2-3	159296	broad.mit.edu	37	chr10	101294811	101294811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggaggagagcgagaggcCgaagccacgcagccgccgga	19	12	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:101294811C>T	uc009xwj.2	+	2	627	c.428C>T	c.(427-429)CCG>CTG	p.P143L		NM_145285	NP_660328	Q8TAU0	NKX23_HUMAN	NK2 transcription factor related, locus 3	143						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.45e-08)		AGCGAGAGGCCGAAGCCACGC	0.632													T	101294811	C	T	101294811	3	4	20	1	0	0	0	0	1	0	0	0	10451	652	23	1	434	1	NKX2-3	10	101294811	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1630341	101294811	34239936	1112	18783											
CWF19L1	55280	broad.mit.edu	37	chr10	102013291	102013291	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacattttttggtatccacTtctccctagtaaacaaaaac	3	12	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:102013291T>C	uc001kqq.1	-	6	597	c.510A>G	c.(508-510)GAA>GAG	p.E170E	CWF19L1_uc001kqs.1_5'UTR|CWF19L1_uc001kqr.1_Silent_p.E170E|CWF19L1_uc001kqt.1_5'UTR|CWF19L1_uc010qpn.1_Silent_p.E33E	NM_018294	NP_060764	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control	170							catalytic activity				0		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		TGGTATCCACTTCTCCCTAGT	0.338													C	102013291	T	C	102013291	2	2	20	1	0	0	0	0	0	0	0	1	4071	1606	56	3		3	CWF19L1	10	102013291	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	718480	102013291	33521456	1113	18784											
LDB1	8861	broad.mit.edu	37	chr10	103867901	103867901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttgctttcttggctggaCggaggcttgctgttccaggg	15	8	1	0	rs146408312		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:103867901C>T	uc009xwz.2	-	11	1528	c.1185G>A	c.(1183-1185)CCG>CCA	p.P395P	LDB1_uc001kuk.3_Silent_p.P359P	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN	LIM domain binding 1 isoform 1	395					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			large_intestine(1)	1		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		CTTGGCTGGACGGAGGCTTGC	0.607													T	103867901	C	T	103867901	2	4	20	1	0	0	0	0	0	0	0	1	8695	523	19	1		1	LDB1	10	103867901	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1854610	103867901	31666846	1114	18785											
PSD	5662	broad.mit.edu	37	chr10	104176760	104176760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggggagatggcacagtcGccttccgagcagaagcgcat	16	10	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:104176760G>A	uc001kvg.1	-	2	563	c.36C>T	c.(34-36)GGC>GGT	p.G12G	PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Silent_p.G12G|PSD_uc001kvi.1_Silent_p.G12G|FBXL15_uc001kvj.1_5'Flank|FBXL15_uc001kvk.2_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	12					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TGGCACAGTCGCCTTCCGAGC	0.721													A	104176760	G	A	104176760	2	1	20	1	0	0	0	0	0	0	0	1	12646	1074	38	1		1	PSD	10	104176760	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	308859	104176760	31357987	1115	18786											
C10orf78	119392	broad.mit.edu	37	chr10	105885351	105885351	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttatgagttgcagtcagcTgtgtctgaagagaacaagaa	11	6	2	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:105885351T>C	uc001kxu.2	+	4	640	c.627T>C	c.(625-627)GCT>GCC	p.A209A	C10orf78_uc001kxs.2_Silent_p.A196A|C10orf78_uc001kxt.2_Silent_p.A163A|C10orf78_uc001kxv.2_Silent_p.A271A	NM_001002759	NP_001002759	Q86XK3	SFR1_HUMAN	hypothetical protein LOC119392 isoform a	209					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding				0		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;1.31e-09)|all cancers(201;3.84e-08)|BRCA - Breast invasive adenocarcinoma(275;0.014)		TGCAGTCAGCTGTGTCTGAAG	0.353													C	105885351	T	C	105885351	2	2	20	1	0	0	0	0	0	0	0	1	1617	1567	55	3		3	C10orf78	10	105885351	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1708591	105885351	29649396	1116	18787											
GSTO2	119391	broad.mit.edu	37	chr10	106039129	106039129	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgtcctctgattaggTcccacatttgaccaaggagt	9	11	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:106039129T>C	uc001kyb.2	+	5	996	c.368T>C	c.(367-369)GTC>GCC	p.V123A	GSTO2_uc010qqw.1_Missense_Mutation_p.V123A|GSTO2_uc010qqx.1_Intron|GSTO2_uc001kyc.2_Missense_Mutation_p.V95A|GSTO2_uc010qqy.1_Intron	NM_183239	NP_899062	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	123	GST C-terminal.				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TCTGATTAGGTCCCACATTTG	0.502													C	106039129	T	C	106039129	3	2	20	1	0	0	0	0	1	0	0	0	6843	1681	58	3	382	3	GSTO2	10	106039129	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	153778	106039129	29495618	1117	18788											
SORCS1	114815	broad.mit.edu	37	chr10	108489836	108489836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagttctggcctcaagatgCacaaggtctggttctttatt	9	9	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:108489836C>T	uc001kym.2	-	6	1004	c.996G>A	c.(994-996)GTG>GTA	p.V332V	SORCS1_uc001kyl.2_Silent_p.V332V|SORCS1_uc009xxs.2_Silent_p.V332V|SORCS1_uc001kyn.1_Silent_p.V332V|SORCS1_uc001kyo.2_Silent_p.V332V	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	332	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCTCAAGATGCACAAGGTCTG	0.388													T	108489836	C	T	108489836	2	4	20	1	0	0	0	0	0	0	0	1	14930	697	25	2		2	SORCS1	10	108489836	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2450707	108489836	27044911	1118	18789											
ACSL5	51703	broad.mit.edu	37	chr10	114154784	114154786	+	In_Frame_Del	DEL	TCT	TCT	-													cctgacatttggagctgccaTcttcttgtggctgatcacca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:114154783_114154785ATCT>A	uc001kzu.3	+	1	359_361	c.247_249ATCT>A	c.(247-249)atc>A	p.I83del	ACSL5_uc001kzs.3_In_Frame_Del_p.I27del|ACSL5_uc001kzt.3_In_Frame_Del_p.I27del|ACSL5_uc009xxz.3_In_Frame_Del_p.I27del	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	27					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TGGAGCTGCCATCTTCTTGTGGC	0.448													-	114154786	TCT	-	114154784	7	5	20	1	0	1	0	1	0	0	0	0	180	1435	50	0	254	0	ACSL5	10	114154784	In_Frame_Del	DEL	TCT	TCGA-BR-4362-01A-01D-1158-08	5664948	114154784	21379963	1119	18790											
HABP2	3026	broad.mit.edu	37	chr10	115340373	115340373	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaacccagatgcggacgaaAagccctggtgctttattaaa	10	9	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:115340373A>C	uc001lai.3	+	8	863	c.760A>C	c.(760-762)AAG>CAG	p.K254Q	HABP2_uc010qrz.1_RNA	NM_004132	NP_004123	Q14520	HABP2_HUMAN	hyaluronan binding protein 2 preproprotein	254	Kringle.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TGCGGACGAAAAGCCCTGGTG	0.428													C	115340373	A	C	115340373	3	2	20	1	0	0	0	0	1	0	0	0	6938	15	1	5	790	5	HABP2	10	115340373	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1185589	115340373	20194374	1120	18791											
HABP2	3026	broad.mit.edu	37	chr10	115341710	115341710	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactcctgtggaaagactgAgatagcagagaggaagatca	13	6	1	5			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:115341710A>G	uc001lai.3	+	9	1017	c.914A>G	c.(913-915)GAG>GGG	p.E305G	HABP2_uc010qrz.1_Intron	NM_004132	NP_004123	Q14520	HABP2_HUMAN	hyaluronan binding protein 2 preproprotein	305					cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		GGAAAGACTGAGATAGCAGAG	0.542													G	115341710	A	G	115341710	3	3	20	1	0	0	0	0	1	0	0	0	6938	304	11	3	948	3	HABP2	10	115341710	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1337	115341710	20193037	1121	18792											
C10orf118	55088	broad.mit.edu	37	chr10	115910861	115910861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaaatacctgttccatcCgttgggccatctctttgtgt	9	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:115910861C>T	uc001lbb.1	-	4	1530	c.878G>A	c.(877-879)CGG>CAG	p.R293Q	C10orf118_uc001lbc.1_Missense_Mutation_p.R293Q|C10orf118_uc009xye.1_RNA	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	CTCL tumor antigen L14-2	293	Potential.									ovary(2)	2		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		CTGTTCCATCCGTTGGGCCAT	0.363													T	115910861	C	T	115910861	3	4	20	1	0	0	0	0	1	0	0	0	1587	652	23	1	1870	1	C10orf118	10	115910861	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	569151	115910861	19623886	1122	18793											
VWA2	340706	broad.mit.edu	37	chr10	116038514	116038514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacccctgtgagcacaggaCgctggagatggtccgggagt	15	11	1	2	rs149756313		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:116038514C>T	uc001lbl.1	+	8	1058	c.737C>T	c.(736-738)ACG>ATG	p.T246M	VWA2_uc001lbk.1_Missense_Mutation_p.T246M|VWA2_uc009xyf.1_Translation_Start_Site	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	246						extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)		GAGCACAGGACGCTGGAGATG	0.627													T	116038514	C	T	116038514	3	4	20	1	0	0	0	0	1	0	0	0	17236	536	19	1	763	1	VWA2	10	116038514	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	127653	116038514	19496233	1123	18794											
KIAA1598	57698	broad.mit.edu	37	chr10	118738812	118738812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctaaggtcttcatattcGcctattgctaaaagaaaaaa	6	8	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:118738812G>A	uc009xyw.2	-	2	564	c.66C>T	c.(64-66)GGC>GGT	p.G22G	KIAA1598_uc001lcz.3_Silent_p.G22G|KIAA1598_uc010qso.1_Intron|KIAA1598_uc010qsp.1_Silent_p.G22G|KIAA1598_uc010qsq.1_5'UTR	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN	shootin1 isoform a	22	Potential.				axon guidance	axon					0				all cancers(201;0.00494)		CTTCATATTCGCCTATTGCTA	0.408													A	118738812	G	A	118738812	2	1	20	1	0	0	0	0	0	0	0	1	8246	1074	38	1		1	KIAA1598	10	118738812	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2700298	118738812	16795935	1124	18795											
FAM45A	404636	broad.mit.edu	37	chr10	120889037	120889037	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatgcaggttacgtcgcTggatttgtagacttggaggt	15	5	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:120889037T>C	uc001ldw.2	+	7	749	c.705T>C	c.(703-705)GCT>GCC	p.A235A	FAM45A_uc010qsv.1_Silent_p.A227A|FAM45A_uc010qsw.1_Silent_p.A84A|FAM45A_uc010qsx.1_RNA|FAM45A_uc010qsy.1_Silent_p.A162A|FAM45A_uc010qsz.1_Silent_p.A124A	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	hypothetical protein LOC404636	235										ovary(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		GTTACGTCGCTGGATTTGTAG	0.448													C	120889037	T	C	120889037	2	2	20	1	0	0	0	0	0	0	0	1	5564	1567	55	3		3	FAM45A	10	120889037	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2150225	120889037	14645710	1125	18796											
PRDX3	10935	broad.mit.edu	37	chr10	120928817	120928817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatcgttgacgctcaaatGcttgatgactccattggggt	12	8	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:120928817G>A	uc001lec.2	-	6	632	c.589C>T	c.(589-591)CAT>TAT	p.H197Y		NM_006793	NP_006784	P30048	PRDX3_HUMAN	peroxiredoxin 3 isoform a precursor	197	Thioredoxin.				cell redox homeostasis|hydrogen peroxide catabolic process|mitochondrion organization|myeloid cell differentiation|negative regulation of kinase activity|positive regulation of cell proliferation|positive regulation of NF-kappaB transcription factor activity|regulation of mitochondrial membrane potential|response to lipopolysaccharide	early endosome|mitochondrion	alkyl hydroperoxide reductase activity|caspase inhibitor activity|peroxidase activity|peroxiredoxin activity|protein C-terminus binding|protein kinase binding				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		ACGCTCAAATGCTTGATGACT	0.483													A	120928817	G	A	120928817	3	1	20	1	0	0	0	0	1	0	0	0	12466	1319	46	2	189	2	PRDX3	10	120928817	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	39780	120928817	14605930	1126	18797											
PLEKHA1	59338	broad.mit.edu	37	chr10	124189429	124189429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctagtagacttggacgatgCgagccttccggtcagtgacg	13	11	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:124189429C>T	uc001lge.1	+	12	1313	c.1190C>T	c.(1189-1191)GCG>GTG	p.A397V	PLEKHA1_uc001lgf.1_3'UTR|PLEKHA1_uc001lgg.1_Missense_Mutation_p.A397V	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A	397					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			kidney(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGGACGATGCGAGCCTTCCG	0.502													T	124189429	C	T	124189429	3	4	20	1	0	0	0	0	1	0	0	0	12055	768	27	1	1232	1	PLEKHA1	10	124189429	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	3260612	124189429	11345318	1127	18798											
HMX2	3167	broad.mit.edu	37	chr10	124909354	124909354	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgagcagctcggagcgCgcctgcctcgcctccagcct	11	18	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:124909354C>T	uc001lhc.1	+	2	794	c.537C>T	c.(535-537)CGC>CGT	p.R179R		NM_005519	NP_005510	A2RU54	HMX2_HUMAN	H6 family homeobox 2	179	Homeobox.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		GCTCGGAGCGCGCCTGCCTCG	0.637													T	124909354	C	T	124909354	2	4	20	1	0	0	0	0	0	0	0	1	7247	755	27	1		1	HMX2	10	124909354	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	719925	124909354	10625393	1128	18799											
C10orf137	26098	broad.mit.edu	37	chr10	127451935	127451935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactcccagcttttgagagCaactgcaaataaaaccgcga	7	11	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:127451935C>T	uc001liq.1	+	25	3904	c.3611C>T	c.(3610-3612)GCA>GTA	p.A1204V	C10orf137_uc001lio.1_Missense_Mutation_p.A1170V|C10orf137_uc001lip.1_Missense_Mutation_p.A908V|C10orf137_uc001lis.1_Missense_Mutation_p.A530V|C10orf137_uc001lit.1_Missense_Mutation_p.A114V	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	1204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTTTTGAGAGCAACTGCAAAT	0.468													T	127451935	C	T	127451935	3	4	20	1	0	0	0	0	1	0	0	0	1594	710	25	2	3603	2	C10orf137	10	127451935	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2542581	127451935	8082812	1129	18800											
FAM196A	642938	broad.mit.edu	37	chr10	128973736	128973736	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaggcactgcatcgggggTgagcaggccagggcagtttc	17	10	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:128973736T>C	uc001lju.1	-	1	965	c.924A>G	c.(922-924)TCA>TCG	p.S308S	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Silent_p.S308S|FAM196A_uc001ljv.1_Silent_p.S308S|FAM196A_uc009yap.1_Silent_p.S308S	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	308										ovary(2)	2						GCATCGGGGGTGAGCAGGCCA	0.677													C	128973736	T	C	128973736	2	2	20	1	0	0	0	0	0	0	0	1	5528	1683	59	3		3	FAM196A	10	128973736	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1521801	128973736	6561011	1130	18801											
TCERG1L	256536	broad.mit.edu	37	chr10	132944832	132944832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcctgttgaggtctccgcGgtccttcaggtccatgggct	13	12	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:132944832G>A	uc001lkp.2	-	7	1212	c.1126C>T	c.(1126-1128)CGC>TGC	p.R376C	TCERG1L_uc009yax.1_RNA	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	376										large_intestine(2)|ovary(2)	4		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		AGGTCTCCGCGGTCCTTCAGG	0.547													A	132944832	G	A	132944832	3	1	20	1	0	0	0	0	1	0	0	0	15683	1116	39	1	658	1	TCERG1L	10	132944832	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3971096	132944832	2589915	1131	18802											
TUBGCP2	10844	broad.mit.edu	37	chr10	135093332	135093332	+	Frame_Shift_Del	DEL	G	G	-													cccccgcaggacaggcacttGgggggtggccttctggctcc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:135093332delG	uc001lmg.1	-	18	3004	c.2647delC	c.(2647-2649)CAAfs	p.Q883fs	ADAM8_uc010quz.1_5'Flank|ADAM8_uc009ybi.2_5'Flank|ADAM8_uc010qva.1_5'Flank|ADAM8_uc009ybj.1_5'Flank|TUBGCP2_uc001lmf.1_Frame_Shift_Del_p.Q476fs|TUBGCP2_uc010qvc.1_Frame_Shift_Del_p.Q911fs|TUBGCP2_uc009ybk.1_Frame_Shift_Del_p.Q906fs|TUBGCP2_uc010qvd.1_Frame_Shift_Del_p.Q753fs|TUBGCP2_uc001lmh.1_RNA	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	883					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		ACAGGCACTTGGGGGGTGGCC	0.657													-	135093332	G	-	135093332	7	5	20	1	0	1	0	1	0	0	0	0	16763	1357	47	0	65	0	TUBGCP2	10	135093332	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	2148500	135093332	441415	1132	18803											
NLRP6	171389	broad.mit.edu	37	chr11	281721	281721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgttctgagctactgcGtgaggtgctgccctgctgga	15	10	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:281721G>A	uc010qvs.1	+	4	1987	c.1987G>A	c.(1987-1989)GTG>ATG	p.V663M	NLRP6_uc010qvt.1_Missense_Mutation_p.V663M	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	663						cytoplasm	ATP binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGCTACTGCGTGAGGTGCTG	0.647													A	281721	G	A	281721	3	1	20	1	0	0	0	0	1	0	0	0	10481	1145	40	1	2001	1	NLRP6	11	281721	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08		281721	134724795	1133	18804											
PTDSS2	81490	broad.mit.edu	37	chr11	490481	490481	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcagaacaaggatgaccagGgcagcaccgtcggcaacggg	16	11	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:490481G>C	uc001lpj.2	+	12	1539	c.1363G>C	c.(1363-1365)GGC>CGC	p.G455R		NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	455	Cytoplasmic (Potential).					integral to membrane					0		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GGATGACCAGGGCAGCACCGT	0.657													C	490481	G	C	490481	3	2	20	1	0	0	0	0	1	0	0	0	12737	1232	43	5	1409	5	PTDSS2	11	490481	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	208760	490481	134516035	1134	18805											
DEAF1	10522	broad.mit.edu	37	chr11	686886	686886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcactgcaagggtcggcccGcgtagcgaatgcttcttttc	13	12	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:686886G>A	uc001lqq.1	-	5	1469	c.776C>T	c.(775-777)GCG>GTG	p.A259V	DEAF1_uc009ycf.1_RNA	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	259	SAND.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GGGTCGGCCCGCGTAGCGAAT	0.607													A	686886	G	A	686886	3	1	20	1	0	0	0	0	1	0	0	0	4380	1087	38	1	953	1	DEAF1	11	686886	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	196405	686886	134319630	1135	18806											
PDDC1	347862	broad.mit.edu	37	chr11	770899	770899	+	Frame_Shift_Del	DEL	A	A	-													tgcatctacccagcaggttcAtttcctgcaggacagacgtg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:770899delA	uc001lrc.2	-	8	686	c.661delT	c.(661-663)TGAfs	p.*221fs	PDDC1_uc001lrb.2_5'Flank|PDDC1_uc010qwm.1_Frame_Shift_Del_p.*171fs|PDDC1_uc001lrd.2_Intron|PDDC1_uc001lrf.1_3'UTR|PDDC1_uc001lrg.1_RNA|PDDC1_uc009ycg.2_3'UTR|PDDC1_uc010qwn.1_RNA|PDDC1_uc010qwo.1_RNA|PDDC1_uc010qwp.1_3'UTR|PDDC1_uc010qwq.1_3'UTR|PDDC1_uc010qwr.1_3'UTR|PDDC1_uc010qws.1_3'UTR	NM_182612	NP_872418	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	221						extracellular region					0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGCAGGTTCATTTCCTGCAG	0.627													-	770899	A	-	770899	7	5	20	1	0	1	0	1	0	0	0	0	11629	230	8	0	5	0	PDDC1	11	770899	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	84013	770899	134235617	1136	18807											
MUC6	4588	broad.mit.edu	37	chr11	1018712	1018712	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgcttgctggggttggAcgtgggcctgtcgtctgggt	20	7	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:1018712A>G	uc001lsw.2	-	31	4140	c.4089T>C	c.(4087-4089)CGT>CGC	p.R1363R		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1363	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGGGTTGGACGTGGGCCTG	0.537													G	1018712	A	G	1018712	2	3	20	1	0	0	0	0	0	0	0	1	9980	262	10	3		3	MUC6	11	1018712	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	247813	1018712	133987804	1137	18808											
MUC6	4588	broad.mit.edu	37	chr11	1025193	1025193	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgcggtacctgggaggcacGggcgatcctgatgaggatgg	19	8	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:1025193G>T	uc001lsw.2	-	23	3025	c.2974C>A	c.(2974-2976)CGT>AGT	p.R992S		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	992	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGGAGGCACGGGCGATCCTG	0.667													T	1025193	G	T	1025193	3	4	20	1	0	0	0	0	1	0	0	0	9980	1116	39	5	4389	5	MUC6	11	1025193	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	6481	1025193	133981323	1138	18809											
MUC6	4588	broad.mit.edu	37	chr11	1027354	1027354	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcactgggccttgcgcacAcactcgcccttttggttcag	12	14	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:1027354A>G	uc001lsw.2	-	17	2196	c.2145T>C	c.(2143-2145)TGT>TGC	p.C715C		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	715					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTTGCGCACACACTCGCCCT	0.637													G	1027354	A	G	1027354	2	3	20	1	0	0	0	0	0	0	0	1	9980	157	6	3		3	MUC6	11	1027354	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2161	1027354	133979162	1139	18810											
MUC2	4583	broad.mit.edu	37	chr11	1088727	1088727	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccccggtgccccaaggacaGgcccatctatgaggaggatc	12	15	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:1088727G>T	uc001lsx.1	+	26	3539	c.3512G>T	c.(3511-3513)AGG>ATG	p.R1171M		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	1171						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCCAAGGACAGGCCCATCTAT	0.622													T	1088727	G	T	1088727	3	4	20	1	0	0	0	0	1	0	0	0	9975	1000	35	5	3614	5	MUC2	11	1088727	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	61373	1088727	133917789	1140	18811											
MUC5B	727897	broad.mit.edu	37	chr11	1263838	1263838	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgacctggatcctcacaaagCcgaccacaacagccactacg	7	17	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:1263838C>A	uc009ycr.1	+	47	7933	c.7807C>A	c.(7807-7809)CCG>ACG	p.P2603T	MUC5B_uc001ltb.2_Missense_Mutation_p.P1913T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1910	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTCACAAAGCCGACCACAAC	0.647													A	1263838	C	A	1263838	3	1	20	1	0	0	0	0	1	0	0	0	9979	739	26	5	5859	5	MUC5B	11	1263838	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	175111	1263838	133742678	1141	18812											
CHRNA10	57053	broad.mit.edu	37	chr11	3687702	3687702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccaggctggcactgggcGgacactgggaccacagtaat	14	12	0	0	rs147793274	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:3687702G>A	uc001lyf.2	-	5	1060	c.988C>T	c.(988-990)CGC>TGC	p.R330C	CHRNA10_uc010qxt.1_Missense_Mutation_p.R124C|CHRNA10_uc010qxu.1_Missense_Mutation_p.R124C	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10	330	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			ovary(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GGCACTGGGCGGACACTGGGA	0.607													A	3687702	G	A	3687702	3	1	20	1	0	0	0	0	1	0	0	0	3382	1116	39	1	368	1	CHRNA10	11	3687702	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2423864	3687702	131318814	1142	18813											
NUP98	4928	broad.mit.edu	37	chr11	3744527	3744527	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttaatgcaacaatggtaTcatccacactgttgctgttg	8	8	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:3744527T>C	uc001lyh.2	-	16	2297	c.2006A>G	c.(2005-2007)GAT>GGT	p.D669G	NUP98_uc001lyi.2_Missense_Mutation_p.D669G|NUP98_uc001lyj.1_Missense_Mutation_p.D669G|NUP98_uc001lyk.1_Missense_Mutation_p.D686G	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	686					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AACAATGGTATCATCCACACT	0.428			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								C	3744527	T	C	3744527	3	2	20	1	0	0	0	0	1	0	0	0	10773	1435	50	3	3489	3	NUP98	11	3744527	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	56825	3744527	131261989	1143	18814											
PGAP2	27315	broad.mit.edu	37	chr11	3845180	3845180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccagcgctacgtgtggcGtttctgcatcggcctgcact	12	15	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:3845180G>A	uc001lys.2	+	4	542	c.416G>A	c.(415-417)CGT>CAT	p.R139H	PGAP2_uc001lyl.2_Missense_Mutation_p.R96H|PGAP2_uc010qxw.1_Missense_Mutation_p.R196H|PGAP2_uc010qxx.1_Silent_p.A119A|PGAP2_uc001lyp.3_Intron|PGAP2_uc010qxy.1_Missense_Mutation_p.R135H|PGAP2_uc010qxz.1_Missense_Mutation_p.R135H|PGAP2_uc001lyn.3_Silent_p.A31A|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_Missense_Mutation_p.R78H|PGAP2_uc010qyb.1_Silent_p.A81A|PGAP2_uc001lyt.2_5'UTR	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	139					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0						TACGTGTGGCGTTTCTGCATC	0.637													A	3845180	G	A	3845180	3	1	20	1	0	0	0	0	1	0	0	0	11778	1145	40	1	605	1	PGAP2	11	3845180	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	100653	3845180	131161336	1144	18815											
STIM1	6786	broad.mit.edu	37	chr11	4091365	4091367	+	In_Frame_Del	DEL	GAA	GAA	-													cgttactccaaggagcacatGaagaagatgatgaaggactt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:4091365_4091367delGAA	uc001lyv.2	+	6	1291_1293	c.723_725delGAA	c.(721-726)ATGAAG>ATG	p.K243del	STIM1_uc009yef.2_In_Frame_Del_p.K243del|STIM1_uc009yeg.2_In_Frame_Del_p.K70del	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	243	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			pancreas(1)	1		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		AGGAGCACATGAAGAAGATGATG	0.517													-	4091367	GAA	-	4091365	7	5	20	1	0	1	0	1	0	0	0	0	15282	1290	45	0	745	0	STIM1	11	4091365	In_Frame_Del	DEL	GAA	TCGA-BR-4362-01A-01D-1158-08	246185	4091365	130915151	1145	18816											
OR52K2	119774	broad.mit.edu	37	chr11	4470698	4470698	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatacactggccctgcttggAaactgcactctccttctcat	6	14	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:4470698A>C	uc001lyz.1	+	1	129	c.129A>C	c.(127-129)GGA>GGC	p.G43G		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G43E(1)		skin(2)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCTGCTTGGAAACTGCACTC	0.532													C	4470698	A	C	4470698	2	2	20	1	0	0	0	0	0	0	0	1	11124	233	9	5		5	OR52K2	11	4470698	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	379333	4470698	130535818	1146	18817											
OR52E8	390079	broad.mit.edu	37	chr11	5878374	5878374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacgggcaatgcccatgtGctcacaataagtatgaggga	12	9	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:5878374G>A	uc010qzr.1	-	1	559	c.559C>T	c.(559-561)CAC>TAC	p.H187Y	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCCCATGTGCTCACAATAA	0.483													A	5878374	G	A	5878374	3	1	20	1	0	0	0	0	1	0	0	0	11118	1319	46	2	396	2	OR52E8	11	5878374	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1407676	5878374	129128142	1147	18818											
OR52L1	338751	broad.mit.edu	37	chr11	6007283	6007283	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggagataccatgtggccagaAgaacatggacatgatggggt	15	6	0	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:6007283A>T	uc001mcd.2	-	1	933	c.878T>A	c.(877-879)CTT>CAT	p.L293H		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	293	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGGCCAGAAGAACATGGAC	0.498													T	6007283	A	T	6007283	3	4	20	1	0	0	0	0	1	0	0	0	11125	72	3	5	115	5	OR52L1	11	6007283	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	128909	6007283	128999233	1148	18819											
OR52L1	338751	broad.mit.edu	37	chr11	6007474	6007474	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggaaacaccaatggccagAacatccagcccaatcacaag	7	13	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:6007474A>G	uc001mcd.2	-	1	742	c.687T>C	c.(685-687)GTT>GTC	p.V229V		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	229	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATGGCCAGAACATCCAGCC	0.507													G	6007474	A	G	6007474	2	3	20	1	0	0	0	0	0	0	0	1	11125	233	9	3		3	OR52L1	11	6007474	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	191	6007474	128999042	1149	18820											
CNGA4	1262	broad.mit.edu	37	chr11	6265475	6265475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgagctggagtccagcGcacttaagattgcttaccgc	12	11	0	2	rs149747380		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:6265475G>A	uc001mco.2	+	6	1671	c.1564G>A	c.(1564-1566)GCA>ACA	p.A522T	CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	522	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGTCCAGCGCACTTAAGAT	0.602													A	6265475	G	A	6265475	3	1	20	1	0	0	0	0	1	0	0	0	3599	1087	38	1	1586	1	CNGA4	11	6265475	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	258001	6265475	128741041	1150	18821											
DCHS1	8642	broad.mit.edu	37	chr11	6645998	6645998	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagccatcggcaggggaAgccaggtggtaggaaatgtg	17	7	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:6645998A>C	uc001mem.1	-	20	7658	c.7248T>G	c.(7246-7248)GCT>GCG	p.A2416A		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2416	Cadherin 23.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGCAGGGGAAGCCAGGTGGT	0.557													C	6645998	A	C	6645998	2	2	20	1	0	0	0	0	0	0	0	1	4287	59	3	5		5	DCHS1	11	6645998	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	380523	6645998	128360518	1151	18822											
DCHS1	8642	broad.mit.edu	37	chr11	6655431	6655431	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggttgtgcacacatcaccgCtgtgggcatcaatgcggaat	13	10	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:6655431C>A	uc001mem.1	-	3	2314	c.1904G>T	c.(1903-1905)AGC>ATC	p.S635I		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	635	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACATCACCGCTGTGGGCATC	0.592													A	6655431	C	A	6655431	3	1	20	1	0	0	0	0	1	0	0	0	4287	797	28	5	8068	5	DCHS1	11	6655431	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	9433	6655431	128351085	1152	18823											
OR2AG2	338755	broad.mit.edu	37	chr11	6789899	6789899	+	Frame_Shift_Del	DEL	C	C	-													ccaggaacatctgaagtgcaCagcctccaaaggagatagtg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:6789898_6789898AC>A	uc001meq.1	-	0	291	c.291_291GT>T	c.(289-291)tgtfs	p.C97fs		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 2 (OR2AG2), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTGAAGTGCACAGCCTCCAA	0.532													-	6789899	C	-	6789899	7	5	20	1	0	1	0	1	0	0	0	0	10985	478	17	0	664	0	OR2AG2	11	6789899	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	134468	6789899	128216617	1153	18824											
SYT9	143425	broad.mit.edu	37	chr11	7324420	7324420	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agacaacaaccaggagccccTtaactacatggacacagaga	8	12	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:7324420T>G	uc001mfe.2	+	2	533	c.296T>G	c.(295-297)CTT>CGT	p.L99R	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	99	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CAGGAGCCCCTTAACTACATG	0.552													G	7324420	T	G	7324420	3	3	20	1	0	0	0	0	1	0	0	0	15478	1609	56	5	302	5	SYT9	11	7324420	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	534521	7324420	127682096	1154	18825											
ST5	6764	broad.mit.edu	37	chr11	8752619	8752619	+	Frame_Shift_Del	DEL	G	G	-													gattctggggtgaaggagctGgggggtgccggtccttgagg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:8752618_8752618TG>T	uc001mgt.3	-	2	405	c.219_219CA>A	c.(217-219)ccafs	p.P73fs	ST5_uc009yfr.3_Intron|ST5_uc001mgu.3_Intron|ST5_uc001mgv.3_Frame_Shift_Del_p.P73fs|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Frame_Shift_Del_p.P73fs	NM_213618	NP_998783	P78524	ST5_HUMAN	Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.	73	Pro-rich.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GTGAAGGAGCTGGGGGGTGCC	0.597													-	8752619	G	-	8752619	7	5	20	1	0	1	0	1	0	0	0	0	15219	1348	47	0	3267	0	ST5	11	8752619	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	1428199	8752619	126253897	1155	18826											
IPO7	10527	broad.mit.edu	37	chr11	9450087	9450088	+	Splice_Site	INS	-	-	A													ctgttgtttatatttacagaINSaaaagatctataaagatcag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:9450086_9450087G>GA	uc001mho.3	+	13	1478	c.1336_splice	c.e13-1	p.K446_splice	SNORA23_uc001mhp.1_5'Flank	NM_006391	NP_006382	O95373	IPO7_HUMAN	Homo sapiens importin 7 (IPO7), mRNA.	446					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	Ran GTPase binding|protein transporter activity|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TATATTTACAGAAAAAGATCTA	0.297													A	9450088	-	A	9450087	8	5	20	1	0	1	1	0	0	0	1	0	7797	260	9	0	1386	0	IPO7	11	9450087	Splice_Site	INS	-	TCGA-BR-4362-01A-01D-1158-08	697468	9450087	125556429	1156	18827											
SBF2	81846	broad.mit.edu	37	chr11	9983568	9983568	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggtctaatattgcccggTtttgctggacatgcaaaccc	10	10	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:9983568T>G	uc001mib.2	-	16	1934	c.1796A>C	c.(1795-1797)AAC>ACC	p.N599T	SBF2_uc001mif.3_Missense_Mutation_p.N355T|SBF2_uc001mih.3_Missense_Mutation_p.N128T	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	599					myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TATTGCCCGGTTTTGCTGGAC	0.413													G	9983568	T	G	9983568	3	3	20	1	0	0	0	0	1	0	0	0	13859	1725	60	5	3853	5	SBF2	11	9983568	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	533481	9983568	125022948	1157	18828											
SBF2	81846	broad.mit.edu	37	chr11	10022471	10022471	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaatacttacaagttcatggAcatcagttttaaagacagaa	7	6	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:10022471A>T	uc001mib.2	-	8	989	c.851T>A	c.(850-852)GTC>GAC	p.V284D	SBF2_uc001mif.3_Missense_Mutation_p.V40D	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	284	DENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAGTTCATGGACATCAGTTTT	0.358													T	10022471	A	T	10022471	3	4	20	1	0	0	0	0	1	0	0	0	13859	275	10	5	4830	5	SBF2	11	10022471	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	38903	10022471	124984045	1158	18829											
GALNTL4	374378	broad.mit.edu	37	chr11	11354360	11354360	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttccttgcagtgatgtcccCaatgtcaattcctgagtcct	7	13	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:11354360C>A	uc001mjo.2	-	8	1718	c.1297G>T	c.(1297-1299)GGG>TGG	p.G433W		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	433	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		GTGATGTCCCCAATGTCAATT	0.542													A	11354360	C	A	11354360	3	1	20	1	0	0	0	0	1	0	0	0	6223	594	21	5	542	5	GALNTL4	11	11354360	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1331889	11354360	123652156	1159	18830											
USP47	55031	broad.mit.edu	37	chr11	11926990	11926990	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggcaagctgaaggactaCgtgagatgtctggaatgtgg	15	6	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:11926990C>T	uc001mjq.1	+	9	1687	c.924C>T	c.(922-924)TAC>TAT	p.Y308Y	USP47_uc001mjr.2_Silent_p.Y220Y|USP47_uc001mjs.2_Silent_p.Y288Y	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	308					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			ovary(1)|skin(1)	2				Epithelial(150;0.000339)		TGAAGGACTACGTGAGATGTC	0.368													T	11926990	C	T	11926990	2	4	20	1	0	0	0	0	0	0	0	1	17075	547	19	1		1	USP47	11	11926990	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	572630	11926990	123079526	1160	18831											
USP47	55031	broad.mit.edu	37	chr11	11977643	11977643	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagactggacatcgtgTaacatactcacctcgtaaag	8	11	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:11977643T>C	uc001mjs.2	+	28	4752	c.3989T>C	c.(3988-3990)GTA>GCA	p.V1330A	USP47_uc001mjr.2_Missense_Mutation_p.V1262A|USP47_uc009ygi.2_Missense_Mutation_p.V132A	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	1350					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			ovary(1)|skin(1)	2				Epithelial(150;0.000339)		GGACATCGTGTAACATACTCA	0.373													C	11977643	T	C	11977643	3	2	20	1	0	0	0	0	1	0	0	0	17075	1638	57	3	3891	3	USP47	11	11977643	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	50653	11977643	123028873	1161	18832											
INSC	387755	broad.mit.edu	37	chr11	15222403	15222403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcactcttcaaggtttgcCggcaggacagtttccggtgc	12	11	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:15222403C>T	uc001mly.2	+	7	914	c.868C>T	c.(868-870)CGG>TGG	p.R290W	INSC_uc001mlz.2_Missense_Mutation_p.R243W|INSC_uc001mma.2_Missense_Mutation_p.R243W|INSC_uc010rcs.1_Missense_Mutation_p.R278W|INSC_uc001mmb.2_Missense_Mutation_p.R243W|INSC_uc001mmc.2_Intron	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	290					cell differentiation|nervous system development	cytoplasm	binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						CAAGGTTTGCCGGCAGGACAG	0.557													T	15222403	C	T	15222403	3	4	20	1	0	0	0	0	1	0	0	0	7764	643	23	1	894	1	INSC	11	15222403	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	3244760	15222403	119784113	1162	18833											
C11orf58	10944	broad.mit.edu	37	chr11	16769659	16769659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatagaaagaacatactggtCgtcttgttataggagatcac	9	6	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:16769659C>T	uc001mmk.2	+	3	341	c.163C>T	c.(163-165)CGT>TGT	p.R55C	C11orf58_uc010rct.1_Missense_Mutation_p.R11C	NM_014267	NP_055082	O00193	SMAP_HUMAN	small acidic protein isoform a	55											0						ACATACTGGTCGTCTTGTTAT	0.249													T	16769659	C	T	16769659	3	4	20	1	0	0	0	0	1	0	0	0	1651	884	31	1	173	1	C11orf58	11	16769659	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1547256	16769659	118236857	1163	18834											
GTF2H1	2965	broad.mit.edu	37	chr11	18369452	18369452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatgcagactgctttcagCcagcagtcaaaagggtatgg	13	8	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:18369452C>T	uc001moi.2	+	10	1733	c.1039C>T	c.(1039-1041)CCA>TCA	p.P347S	GTF2H1_uc001moh.2_Missense_Mutation_p.P347S|GTF2H1_uc009yhm.2_Missense_Mutation_p.P231S|GTF2H1_uc001moj.2_Missense_Mutation_p.P35S	NM_001142307	NP_001135779	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1,	347					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding				0						CTGCTTTCAGCCAGCAGTCAA	0.393								NER					T	18369452	C	T	18369452	3	4	20	1	0	0	0	0	1	0	0	0	6860	739	26	2	1069	2	GTF2H1	11	18369452	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1599793	18369452	116637064	1164	18835											
SPTY2D1	144108	broad.mit.edu	37	chr11	18637193	18637193	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttttctcctatgctttcGttcaaggaattctcgctccc	5	12	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:18637193G>A	uc001moy.2	-	3	844	c.628C>T	c.(628-630)CGA>TGA	p.R210*	SPTY2D1_uc010rdi.1_Nonsense_Mutation_p.R210*	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	210										breast(1)	1						CTATGCTTTCGTTCAAGGAAT	0.428													A	18637193	G	A	18637193	4	1	20	1	0	0	0	0	0	1	0	0	15125	1153	40	1	1445	1	SPTY2D1	11	18637193	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	267741	18637193	116369323	1165	18836											
E2F8	79733	broad.mit.edu	37	chr11	19259637	19259637	+	Frame_Shift_Del	DEL	T	T	-													ggtggattctttcagaggtgTtttcattagtccccttttat							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:19259637delT	uc001mpm.2	-	3	580	c.58delA	c.(58-60)ACAfs	p.T20fs	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Frame_Shift_Del_p.T20fs|E2F8_uc001mpo.1_Frame_Shift_Del_p.T20fs	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	20					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						TTCAGAGGTGTTTTCATTAGT	0.408													-	19259637	T	-	19259637	7	5	20	1	0	1	0	1	0	0	0	0	4873	1725	60	0	2589	0	E2F8	11	19259637	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	622444	19259637	115746879	1166	18837											
NAV2	89797	broad.mit.edu	37	chr11	19955098	19955098	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggagactctgcccagcttCgaagagagcgaggagctgga	15	10	1	2	rs113762718		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:19955098C>T	uc010rdm.1	+	8	1738	c.1377C>T	c.(1375-1377)TTC>TTT	p.F459F	NAV2_uc001mpp.2_Silent_p.F372F|NAV2_uc001mpr.3_Silent_p.F436F	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	459						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						TGCCCAGCTTCGAAGAGAGCG	0.612													T	19955098	C	T	19955098	2	4	20	1	0	0	0	0	0	0	0	1	10184	883	31	1		1	NAV2	11	19955098	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	695461	19955098	115051418	1167	18838											
DBX1	120237	broad.mit.edu	37	chr11	20178177	20178177	+	Frame_Shift_Del	DEL	G	G	-													gaggtcagatcaggggctccGggggacgcacgggggcgggg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:20178176_20178176CG>C	uc021qez.1	-	3	733	c.730_730CG>G	c.(730-732)ggafs	p.G244fs	DBX1_uc021qey.1_Intron	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	Homo sapiens developing brain homeobox 1 (DBX1), mRNA.	223					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						TCAGGGGCTCCGGGGGACGCA	0.632													-	20178177	G	-	20178177	7	5	20	1	0	1	0	1	0	0	0	0	4259	1103	39	0	420	0	DBX1	11	20178177	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	223079	20178177	114828339	1168	18839											
PRMT3	10196	broad.mit.edu	37	chr11	20424486	20424486	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaaatacgaacagaaagcTaccgagatttcatataccaa	5	9	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:20424486T>C	uc001mqb.2	+	8	944	c.727T>C	c.(727-729)TAC>CAC	p.Y243H	PRMT3_uc001mqc.2_Missense_Mutation_p.Y166H|PRMT3_uc010rdn.1_Missense_Mutation_p.Y181H	NM_005788	NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3 isoform 1	243							zinc ion binding				0						AACAGAAAGCTACCGAGATTT	0.338													C	20424486	T	C	20424486	3	2	20	1	0	0	0	0	1	0	0	0	12538	1522	53	3	757	3	PRMT3	11	20424486	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	246309	20424486	114582030	1169	18840											
ANO5	203859	broad.mit.edu	37	chr11	22296189	22296189	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttactcaacaaatgccacAcagcctatgacaggatatgt	7	11	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:22296189A>G	uc001mqi.2	+	20	2627	c.2310A>G	c.(2308-2310)ACA>ACG	p.T770T	ANO5_uc001mqj.2_Silent_p.T769T	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	770	Extracellular (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						CAAATGCCACACAGCCTATGA	0.388													G	22296189	A	G	22296189	2	3	20	1	0	0	0	0	0	0	0	1	700	146	6	3		3	ANO5	11	22296189	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1871703	22296189	112710327	1170	18841											
CCDC73	493860	broad.mit.edu	37	chr11	32635417	32635417	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggcttcagttacctgaTtctcatcaatctgattcttt	6	9	5	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:32635417T>A	uc001mtv.2	-	16	2491	c.2447A>T	c.(2446-2448)AAT>ATT	p.N816I		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	816										ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)					AGTTACCTGATTCTCATCAAT	0.333													A	32635417	T	A	32635417	3	1	20	1	0	0	0	0	1	0	0	0	2846	1493	52	5	804	5	CCDC73	11	32635417	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	10339228	32635417	102371099	1171	18842											
QSER1	79832	broad.mit.edu	37	chr11	32953933	32953933	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccactcaggtgagcaacggaGgattacaacagaagacctcc	10	12	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:32953933G>T	uc001mty.2	+	4	1009	c.742G>T	c.(742-744)GGA>TGA	p.G248*	QSER1_uc001mtz.1_Intron|QSER1_uc001mua.2_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	248	Ser-rich.									ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					GAGCAACGGAGGATTACAACA	0.418													T	32953933	G	T	32953933	4	4	20	1	0	0	0	0	0	1	0	0	12882	1001	35	5	748	5	QSER1	11	32953933	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	318516	32953933	102052583	1172	18843											
DEPDC7	91614	broad.mit.edu	37	chr11	33050184	33050184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagaagaaacaattgggCgtctactacaacttgtagac	10	8	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:33050184C>T	uc001mub.2	+	4	720	c.628C>T	c.(628-630)CGT>TGT	p.R210C	DEPDC7_uc001muc.2_Missense_Mutation_p.R201C	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	novel 58.3 KDA protein isoform 1	210					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|skin(1)	2						AACAATTGGGCGTCTACTACA	0.383													T	33050184	C	T	33050184	3	4	20	1	0	0	0	0	1	0	0	0	4444	768	27	1	692	1	DEPDC7	11	33050184	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	96251	33050184	101956332	1173	18844											
NAT10	55226	broad.mit.edu	37	chr11	34145925	34145925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatcagagtgaatgtatttcGagaacacaggcagactattc	10	7	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:34145925G>A	uc001mvk.2	+	11	1329	c.1085G>A	c.(1084-1086)CGA>CAA	p.R362Q	NAT10_uc010ren.1_Missense_Mutation_p.R290Q	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 isoform a	362						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				AATGTATTTCGAGAACACAGG	0.433													A	34145925	G	A	34145925	3	1	20	1	0	0	0	0	1	0	0	0	10174	1058	37	1	1123	1	NAT10	11	34145925	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1095741	34145925	100860591	1174	18845											
ABTB2	25841	broad.mit.edu	37	chr11	34181842	34181842	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctctgggatgctggggatgGgactgctgccatagcagtgg	17	8	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:34181842G>T	uc001mvl.1	-	12	2128	c.1898C>A	c.(1897-1899)CCC>CAC	p.P633H		NM_145804	NP_665803	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing	633							DNA binding			central_nervous_system(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GCTGGGGATGGGACTGCTGCC	0.652													T	34181842	G	T	34181842	3	4	20	1	0	0	0	0	1	0	0	0	103	1232	43	5	645	5	ABTB2	11	34181842	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	35917	34181842	100824674	1175	18846											
SLC1A2	6506	broad.mit.edu	37	chr11	35333945	35333945	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggacatgtaatacaccaTggctctcgtgcccaagcggc	11	13	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:35333945T>C	uc001mwd.2	-	4	953	c.361A>G	c.(361-363)ATG>GTG	p.M121V	SLC1A2_uc001mwe.2_Missense_Mutation_p.M112V|SLC1A2_uc010rev.1_Missense_Mutation_p.M121V	NM_004171	NP_004162	P43004	EAA2_HUMAN	excitatory amino acid transporter 2	121	Helical; (Potential).				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			ovary(2)|central_nervous_system(1)	3	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	TAATACACCATGGCTCTCGTG	0.498													C	35333945	T	C	35333945	3	2	20	1	0	0	0	0	1	0	0	0	14432	1464	51	3	1395	3	SLC1A2	11	35333945	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1152103	35333945	99672571	1176	18847											
PAMR1	25891	broad.mit.edu	37	chr11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-													catagaagtcatccaaggtaCccccccatgagccatttcgg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:35513669_35513669AC>A	uc001mwf.3	-	2	346	c.303_303GT>T	c.(301-303)ggtfs	p.G101fs	PAMR1_uc001mwg.3_Frame_Shift_Del_p.G101fs|PAMR1_uc010rew.2_Frame_Shift_Del_p.G101fs|PAMR1_uc010rex.2_Frame_Shift_Del_p.G61fs	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATG	0.522													-	35513670	C	-	35513670	7	5	20	1	0	1	0	1	0	0	0	0	11413	507	18	0	1951	0	PAMR1	11	35513670	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	179725	35513670	99492846	1177	18848											
ACCSL	390110	broad.mit.edu	37	chr11	44074571	44074571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacacccatcctttccagCtcactgtggacaagttagag	7	13	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:44074571C>T	uc001mxw.1	+	7	957	c.901C>T	c.(901-903)CTC>TTC	p.L301F	ACCSL_uc009ykr.2_Missense_Mutation_p.L120F	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	301							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						TCCTTTCCAGCTCACTGTGGA	0.458													T	44074571	C	T	44074571	3	4	20	1	0	0	0	0	1	0	0	0	134	797	28	2	927	2	ACCSL	11	44074571	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	8560901	44074571	90931945	1178	18849											
CD82	3732	broad.mit.edu	37	chr11	44626950	44626950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattgcccaggtgacggccGgggccctcttctacttcaac	10	15	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:44626950G>A	uc001myc.2	+	6	555	c.307G>A	c.(307-309)GGG>AGG	p.G103R	CD82_uc001myd.2_Intron	NM_002231	NP_002222	P27701	CD82_HUMAN	CD82 antigen isoform 1	103	Helical; (Potential).					integral to plasma membrane	protein binding			ovary(1)	1						GGTGACGGCCGGGGCCCTCTT	0.602													A	44626950	G	A	44626950	3	1	20	1	0	0	0	0	1	0	0	0	3040	1116	39	1	321	1	CD82	11	44626950	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	552379	44626950	90379566	1179	18850											
CHST1	8534	broad.mit.edu	37	chr11	45671304	45671304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttcttcagctcctcctcCgaggcggcgatcttgtagcc	12	14	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:45671304C>T	uc001mys.1	-	4	1841	c.1170G>A	c.(1168-1170)TCG>TCA	p.S390S		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	390	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCTCCTCCTCCGAGGCGGCGA	0.692													T	45671304	C	T	45671304	2	4	20	1	0	0	0	0	0	0	0	1	3397	639	23	1		1	CHST1	11	45671304	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1044354	45671304	89335212	1180	18851											
PHF21A	51317	broad.mit.edu	37	chr11	45967495	45967496	+	Frame_Shift_Ins	INS	-	-	G													gagtcaggatgactggattgINSgggggatgttggggtaaggg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:45967494_45967495T>TG	uc001ncc.4	-	13	1969_1970	c.1345_1346A>CA	c.(1345-1347)caafs	p.Q449fs	PHF21A_uc001ncb.4_Intron|PHF21A_uc009ykx.3_Intron|PHF21A_uc001nce.2_Frame_Shift_Ins_p.Q450fs|PHF21A_uc001nca.1_Frame_Shift_Ins_p.Q185fs	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA.	449					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						ATGACTGGATTGGGGGGATGTT	0.525													G	45967496	-	G	45967495	7	5	20	1	0	1	1	0	0	0	0	0	11833	1357	47	0	717	0	PHF21A	11	45967495	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	296191	45967495	89039021	1181	18852											
CREB3L1	90993	broad.mit.edu	37	chr11	46334005	46334005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggccttgaagagagtcCggaggaaaatcaagaacaag	13	6	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:46334005C>T	uc001ncf.2	+	6	1318	c.883C>T	c.(883-885)CGG>TGG	p.R295W		NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like	295	Cytoplasmic (Potential).|Basic motif.				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	soft_tissue(6)|ovary(2)	8				GBM - Glioblastoma multiforme(35;0.0285)		GAAGAGAGTCCGGAGGAAAAT	0.587			T	FUS	myxofibrosarcoma								T	46334005	C	T	46334005	3	4	20	1	0	0	0	0	1	0	0	0	3856	643	23	1	905	1	CREB3L1	11	46334005	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	366510	46334005	88672511	1182	18853											
CHRM4	1132	broad.mit.edu	37	chr11	46407256	46407256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttatcagccacggggcgCggtggcggtggcagcgctgg	18	12	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:46407256C>T	uc001nct.1	-	1	852	c.852G>A	c.(850-852)CCG>CCA	p.P284P		NM_000741	NP_000732	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	284	Cytoplasmic (By similarity).				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity				0				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	CCACGGGGCGCGGTGGCGGTG	0.687													T	46407256	C	T	46407256	2	4	20	1	0	0	0	0	0	0	0	1	3379	755	27	1		1	CHRM4	11	46407256	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	73251	46407256	88599260	1183	18854											
AMBRA1	55626	broad.mit.edu	37	chr11	46419427	46419427	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacggctgtcatgccgcccTccgccatcagcctctggatc	9	19	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:46419427T>C	uc010rgu.1	-	18	3830	c.3470A>G	c.(3469-3471)GAG>GGG	p.E1157G	AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.E1128G|AMBRA1_uc001ncu.1_Missense_Mutation_p.E1067G|AMBRA1_uc001ncv.2_Missense_Mutation_p.E1160G|AMBRA1_uc001ncw.2_Missense_Mutation_p.E1038G|AMBRA1_uc001ncx.2_Missense_Mutation_p.E1097G	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	1157					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CATGCCGCCCTCCGCCATCAG	0.602													C	46419427	T	C	46419427	3	2	20	1	0	0	0	0	1	0	0	0	565	1551	54	3	430	3	AMBRA1	11	46419427	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	12171	46419427	88587089	1184	18855											
ARHGAP1	392	broad.mit.edu	37	chr11	46702288	46702288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtgtggatttcaggaaGtcgtcatatctgtaggagta	12	5	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:46702288G>A	uc001ndd.2	-	8	714	c.645C>T	c.(643-645)GAC>GAT	p.D215D		NM_004308	NP_004299	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	215	CRAL-TRIO.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			skin(1)	1		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		ATTTCAGGAAGTCGTCATATC	0.607													A	46702288	G	A	46702288	2	1	20	1	0	0	0	0	0	0	0	1	861	1020	36	4		4	ARHGAP1	11	46702288	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	282861	46702288	88304228	1185	18856											
C11orf49	79096	broad.mit.edu	37	chr11	47074021	47074021	+	Frame_Shift_Del	DEL	T	T	-													ccccccacaatagggtatcaTttttacgggccttctggaga							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:47074020_47074020AT>A	uc001ndr.3	+	2	337	c.231_231AT>A	c.(229-231)tcafs	p.S77fs	C11orf49_uc001nds.3_Frame_Shift_Del_p.S77fs|C11orf49_uc001ndq.3_Frame_Shift_Del_p.S77fs|C11orf49_uc001ndp.3_Frame_Shift_Del_p.S77fs|C11orf49_uc010rgx.2_5'UTR|C11orf49_uc010rgy.2_Frame_Shift_Del_p.S68fs|C11orf49_uc010rgz.2_Intron	NM_001003677	NP_001003677	Q9H6J7	CK049_HUMAN	Homo sapiens chromosome 11 open reading frame 49 (C11orf49), transcript variant 2, mRNA.	77										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						ATAGGGTATCATTTTTACGGG	0.448													-	47074021	T	-	47074021	7	5	20	1	0	1	0	1	0	0	0	0	1645	1493	52	0	242	0	C11orf49	11	47074021	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	371733	47074021	87932495	1186	18857											
MADD	8567	broad.mit.edu	37	chr11	47336824	47336824	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agccggcacatgaagaagcaGacatttgtggtacatgcagg	13	8	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:47336824G>T	uc001ner.1	+	30	4514	c.4323G>T	c.(4321-4323)CAG>CAT	p.Q1441H	MADD_uc001neq.2_Missense_Mutation_p.Q1382H|MADD_uc001nev.1_Missense_Mutation_p.Q1339H|MADD_uc001nes.1_Missense_Mutation_p.Q1359H|MADD_uc001net.1_Missense_Mutation_p.Q1402H|MADD_uc009yln.1_Missense_Mutation_p.Q1335H|MADD_uc001neu.1_Missense_Mutation_p.Q1339H|MADD_uc001nex.2_Missense_Mutation_p.Q1441H|MADD_uc001nez.2_Missense_Mutation_p.Q1338H|MADD_uc001new.2_Missense_Mutation_p.Q1381H|MADD_uc009ylo.2_Missense_Mutation_p.Q355H	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	1441					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		TGAAGAAGCAGACATTTGTGG	0.483													T	47336824	G	T	47336824	3	4	20	1	0	0	0	0	1	0	0	0	9152	933	33	5	4437	5	MADD	11	47336824	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	262803	47336824	87669692	1187	18858											
PSMC3	5702	broad.mit.edu	37	chr11	47441881	47441881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcattgggcatcgggAactctatcttgcggtcaagg	11	12	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:47441881A>G	uc001nfh.2	-	10	1255	c.1061T>C	c.(1060-1062)TTC>TCC	p.F354S	PSMC3_uc009ylr.1_Missense_Mutation_p.F312S	NM_002804	NP_002795	P17980	PRS6A_HUMAN	proteasome 26S ATPase subunit 3	354					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			ovary(4)	4				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGGCATCGGGAACTCTATCTT	0.602													G	47441881	A	G	47441881	3	3	20	1	0	0	0	0	1	0	0	0	12687	246	9	3	270	3	PSMC3	11	47441881	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	105057	47441881	87564635	1188	18859											
AGBL2	79841	broad.mit.edu	37	chr11	47711972	47711972	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtaaacggtatttcctgcTaggctcctgcataaagtttg	9	8	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:47711972T>C	uc001ngg.2	-	9	1387	c.1287A>G	c.(1285-1287)CTA>CTG	p.L429L	AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Silent_p.L391L|AGBL2_uc001ngh.1_Silent_p.L373L	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	429					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						TATTTCCTGCTAGGCTCCTGC	0.493													C	47711972	T	C	47711972	2	2	20	1	0	0	0	0	0	0	0	1	376	1509	53	3		3	AGBL2	11	47711972	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	270091	47711972	87294544	1189	18860											
OR4A5	81318	broad.mit.edu	37	chr11	51412117	51412117	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatagctggcccatgcaaccTtggaaggaaatagtcttttt	9	8	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:51412117T>C	uc001nhi.1	-	1	279	c.279A>G	c.(277-279)CAA>CAG	p.Q93Q		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				CCATGCAACCTTGGAAGGAAA	0.448													C	51412117	T	C	51412117	2	2	20	1	0	0	0	0	0	0	0	1	11043	1606	56	3		3	OR4A5	11	51412117	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3700145	51412117	83594399	1190	18861											
OR5L1	219437	broad.mit.edu	37	chr11	55579099	55579099	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcactgattcaggtcagcTctcggctccacacccccatg	8	16	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:55579099T>C	uc001nhw.1	+	1	157	c.157T>C	c.(157-159)TCT>CCT	p.S53P		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)				TCAGGTCAGCTCTCGGCTCCA	0.473													C	55579099	T	C	55579099	3	2	20	1	0	0	0	0	1	0	0	0	11170	1551	54	3	159	3	OR5L1	11	55579099	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	4166982	55579099	79427417	1191	18862											
OR5B17	219965	broad.mit.edu	37	chr11	58125922	58125922	+	Frame_Shift_Del	DEL	A	A	-													atcaaggtaacaagaagtgcAaaaaagacattaaaacttga							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:58125921_58125921CA>C	uc010rke.2	-	0	622	c.622_622TG>G	c.(622-624)gcafs	p.A208fs		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACAAGAAGTGCAAAAAAGACA	0.378													-	58125922	A	-	58125922	7	5	20	1	0	1	0	1	0	0	0	0	11149	127	5	0	325	0	OR5B17	11	58125922	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	2546823	58125922	76880594	1192	18863											
DTX4	23220	broad.mit.edu	37	chr11	58956242	58956242	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaagaacctaaatgggTccagtcctgtcaaccctgcc	9	13	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:58956242T>G	uc001nns.2	+	3	1227	c.970T>G	c.(970-972)TCC>GCC	p.S324A	DTX4_uc001nnr.2_Missense_Mutation_p.S218A	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	324					Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)				CCTAAATGGGTCCAGTCCTGT	0.453													G	58956242	T	G	58956242	3	3	20	1	0	0	0	0	1	0	0	0	4797	1667	58	5	980	5	DTX4	11	58956242	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	830320	58956242	76050274	1193	18864											
TMEM132A	54972	broad.mit.edu	37	chr11	60696229	60696229	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctgggggctgtggctcCggcgaggagaacgaccctgg	19	12	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:60696229C>T	uc001nqj.2	+	4	856	c.663C>T	c.(661-663)TCC>TCT	p.S221S	TMEM132A_uc001nqi.2_Silent_p.S221S|TMEM132A_uc001nqk.2_Silent_p.S234S|TMEM132A_uc001nql.1_Silent_p.S234S	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	221	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						GCTGTGGCTCCGGCGAGGAGA	0.697													T	60696229	C	T	60696229	2	4	20	1	0	0	0	0	0	0	0	1	16042	639	23	1		1	TMEM132A	11	60696229	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1739987	60696229	74310287	1194	18865											
CD5	921	broad.mit.edu	37	chr11	60889125	60889125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtctggtggggggcagcaGcatctgtgaaggcaccgtgg	18	10	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:60889125G>A	uc009ynk.2	+	6	951	c.848G>A	c.(847-849)AGC>AAC	p.S283N		NM_014207	NP_055022	P06127	CD5_HUMAN	CD5 molecule precursor	283	Extracellular (Potential).|SRCR 3.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			ovary(1)	1		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		GGGGGCAGCAGCATCTGTGAA	0.642													A	60889125	G	A	60889125	3	1	20	1	0	0	0	0	1	0	0	0	3021	971	34	2	870	2	CD5	11	60889125	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	192896	60889125	74117391	1195	18866											
DAGLA	747	broad.mit.edu	37	chr11	61511463	61511463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagtgctgcggccaatgaCgaggaggaagaggttggcgg	18	9	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:61511463C>T	uc001nsa.2	+	20	2742	c.2631C>T	c.(2629-2631)GAC>GAT	p.D877D		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	877	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		CGGCCAATGACGAGGAGGAAG	0.726													T	61511463	C	T	61511463	2	4	20	1	0	0	0	0	0	0	0	1	4226	535	19	1		1	DAGLA	11	61511463	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	622338	61511463	73495053	1196	18867											
C11orf9	745	broad.mit.edu	37	chr11	61533640	61533640	+	Frame_Shift_Del	DEL	G	G	-													gctgcccccaagcccttcccGgggggcaccgggccccccat					rs143922330		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:61533639_61533639CG>C	uc001nsc.1	+	2	440	c.344_344CG>C	c.(343-345)ccgfs	p.P115fs	C11orf9_uc001nse.1_Frame_Shift_Del_p.P106fs	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	115	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						AAGCCCTTCCCGGGGGGCACC	0.706													-	61533640	G	-	61533640	7	5	20	1	0	1	0	1	0	0	0	0	1671	1103	39	0	378	0	C11orf9	11	61533640	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	22177	61533640	73472876	1197	18868											
RAB3IL1	5866	broad.mit.edu	37	chr11	61675603	61675603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggaagagctgcgcaggcGcaacacgtccagctgggcgg	16	12	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:61675603G>A	uc001nso.2	-	2	345	c.187C>T	c.(187-189)CGC>TGC	p.R63C	RAB3IL1_uc001nsp.2_Missense_Mutation_p.R110C	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	63							protein binding			skin(2)|central_nervous_system(1)	3						CTGCGCAGGCGCAACACGTCC	0.677													A	61675603	G	A	61675603	3	1	20	1	0	0	0	0	1	0	0	0	12937	1087	38	1	997	1	RAB3IL1	11	61675603	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	141963	61675603	73330913	1198	18869											
EML3	256364	broad.mit.edu	37	chr11	62375291	62375291	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaggactgagtcatttgtActctgaagggaagacactag	12	8	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:62375291A>G	uc001ntu.1	-	11	1517	c.1209T>C	c.(1207-1209)AGT>AGC	p.S403S	EML3_uc001ntr.1_Silent_p.S375S|EML3_uc001nts.1_Silent_p.S375S|EML3_uc001ntt.1_Silent_p.S287S|EML3_uc010rly.1_Silent_p.S403S|EML3_uc009yny.1_Silent_p.S186S	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	403	WD 3.					cytoplasm|microtubule	protein binding			ovary(1)	1						AGTCATTTGTACTCTGAAGGG	0.527													G	62375291	A	G	62375291	2	3	20	1	0	0	0	0	0	0	0	1	5098	388	14	3		3	EML3	11	62375291	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	699688	62375291	72631225	1199	18870											
LGALS12	85329	broad.mit.edu	37	chr11	63278568	63278569	+	Frame_Shift_Ins	INS	-	-	C													agcctttcctgctgatgagcINScccaggctggtgagtgaacc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:63278567_63278568G>GC	uc001nxc.2	+	5	958_959	c.617_618G>GC	c.(616-618)agcfs	p.S206fs	LGALS12_uc001nxa.2_Frame_Shift_Ins_p.S205fs|LGALS12_uc001nxb.2_Intron|LGALS12_uc001nxd.2_Frame_Shift_Ins_p.S144fs|LGALS12_uc001nxe.2_Intron|LGALS12_uc009yot.2_Frame_Shift_Ins_p.S165fs	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	205					apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CTGCTGATGAGCCCCAGGCTGG	0.554													C	63278569	-	C	63278568	7	5	20	1	0	1	1	0	0	0	0	0	8739	738	26	0	640	0	LGALS12	11	63278568	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	903277	63278568	71727948	1200	18871											
DNAJC4	3338	broad.mit.edu	37	chr11	64000186	64000186	+	Frame_Shift_Del	DEL	C	C	-													ctcccagcagctcctggacaCcccccaacgcacagtactgg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:64000185_64000185AC>A	uc001nyt.3	+	3	801	c.378_378AC>A	c.(376-378)acafs	p.T126fs	AX747192_uc001nyr.1_5'Flank|DNAJC4_uc001nys.3_Frame_Shift_Del_p.T125fs|DNAJC4_uc001nyu.3_Frame_Shift_Del_p.T125fs|VEGFB_uc001nyx.3_5'Flank|VEGFB_uc001nyw.3_5'Flank			Q9NNZ3	DNJC4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 4 (DNAJC4), mRNA.	125					protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding	p.A125V(1)		endometrium(1)|lung(1)|prostate(1)	3						GCTCCTGGACACCCCCCAACG	0.577													-	64000186	C	-	64000186	7	5	20	1	0	1	0	1	0	0	0	0	4649	507	18	0	390	0	DNAJC4	11	64000186	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	721618	64000186	71006330	1201	18872											
PRDX5	25824	broad.mit.edu	37	chr11	64088156	64088156	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgccagggtttgtggaGcaggctgaggctctgaaggc	16	10	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:64088156G>A	uc001nzu.2	+	3	449	c.330G>A	c.(328-330)GAG>GAA	p.E110E	PRDX5_uc001nzv.2_Intron|PRDX5_uc001nzw.2_Intron|PRDX5_uc001nzx.2_RNA	NM_012094	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5 isoform a precursor	110	Thioredoxin.				cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis	cytosolic part|mitochondrion|peroxisome	caspase inhibitor activity|peroxidase activity|peroxiredoxin activity			breast(1)	1					Auranofin(DB00995)	GGTTTGTGGAGCAGGCTGAGG	0.592													A	64088156	G	A	64088156	2	1	20	1	0	0	0	0	0	0	0	1	12468	962	34	2		2	PRDX5	11	64088156	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	87970	64088156	70918360	1202	18873											
CCDC88B	283234	broad.mit.edu	37	chr11	64108903	64108903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccctcagtgtgagcaccGggaactcttcatccgccaca	8	17	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:64108903G>A	uc001nzy.2	+	6	502	c.458G>A	c.(457-459)CGG>CAG	p.R153Q	CCDC88B_uc009ypo.1_Missense_Mutation_p.R150Q|CCDC88B_uc001nzz.1_5'Flank	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88	153					microtubule cytoskeleton organization	cytoplasm	microtubule binding			ovary(3)|skin(1)	4						TGTGAGCACCGGGAACTCTTC	0.637													A	64108903	G	A	64108903	3	1	20	1	0	0	0	0	1	0	0	0	2864	1116	39	1	480	1	CCDC88B	11	64108903	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	20747	64108903	70897613	1203	18874											
ATG2A	23130	broad.mit.edu	37	chr11	64678326	64678326	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggggccacagacactccaGcacctccagctgcccgaagt	10	18	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:64678326G>A	uc001obx.2	-	11	1682	c.1567C>T	c.(1567-1569)CTG>TTG	p.L523L		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	523							protein binding			ovary(1)|central_nervous_system(1)	2						AGACACTCCAGCACCTCCAGC	0.667													A	64678326	G	A	64678326	2	1	20	1	0	0	0	0	0	0	0	1	1093	962	34	2		2	ATG2A	11	64678326	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	569423	64678326	70328190	1204	18875											
SLC22A20	440044	broad.mit.edu	37	chr11	65000689	65000689	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttgggctcagcctataccTggtgcaggccctgtttggaa	13	10	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:65000689T>C	uc010roc.1	+	8	1115	c.1112T>C	c.(1111-1113)CTG>CCG	p.L371P		NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	solute carrier family 22, member 20	371	Extracellular (Potential).				ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)	1						AGCCTATACCTGGTGCAGGCC	0.597													C	65000689	T	C	65000689	3	2	20	1	0	0	0	0	1	0	0	0	14451	1595	55	3		3	SLC22A20	11	65000689	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	322363	65000689	70005827	1205	18876											
SF3B2	10992	broad.mit.edu	37	chr11	65836146	65836147	+	Splice_Site	INS	-	-	A													ctctttctccctatacagcaINSaaaaaaacggaaagctcagc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:65836145_65836146C>CA	uc001ogy.1	+	22	2657	c.2617_splice	c.e22-1	p.Q873_splice	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.2_5'Flank	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	873					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCTATACAGCAAAAAAAACGG	0.515											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	65836147	-	A	65836146	8	5	20	1	0	1	1	0	0	0	1	0	14151	144	5	0	2704	0	SF3B2	11	65836146	Splice_Site	INS	-	TCGA-BR-4362-01A-01D-1158-08	835457	65836146	69170370	1206	18877											
KDM2A	22992	broad.mit.edu	37	chr11	67010480	67010480	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttccctcctacccttagAttttgctggaggagcttgcc	8	13	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:67010480A>G	uc001ojw.2	+	13	2344	c.1480A>G	c.(1480-1482)ATT>GTT	p.I494V	KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.I188V|KDM2A_uc010rpn.1_Missense_Mutation_p.I55V|KDM2A_uc001ojz.1_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	494					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						CTACCCTTAGATTTTGCTGGA	0.483													G	67010480	A	G	67010480	3	3	20	1	0	0	0	0	1	0	0	0	8124	347	12	3	1526	3	KDM2A	11	67010480	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1174334	67010480	67996036	1207	18878											
ANKRD13D	338692	broad.mit.edu	37	chr11	67068551	67068551	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctaatggccatcagcaaCgctcactttgccaagctgcg	9	14	2	0	rs148986056	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:67068551C>T	uc001okc.1	+	12	1414	c.903C>T	c.(901-903)AAC>AAT	p.N301N	ANKRD13D_uc001okd.1_Silent_p.N388N|ANKRD13D_uc001oke.1_Silent_p.N301N|ANKRD13D_uc001okg.1_Silent_p.N84N|ANKRD13D_uc001okh.1_Silent_p.N84N|ANKRD13D_uc001oki.1_Silent_p.N38N|SSH3_uc001okj.2_5'Flank|SSH3_uc001okk.2_5'Flank|SSH3_uc001okl.2_5'Flank	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	301										ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCATCAGCAACGCTCACTTTG	0.607													T	67068551	C	T	67068551	2	4	20	1	0	0	0	0	0	0	0	1	644	535	19	1		1	ANKRD13D	11	67068551	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	58071	67068551	67937965	1208	18879											
TBC1D10C	374403	broad.mit.edu	37	chr11	67176565	67176565	+	Frame_Shift_Del	DEL	C	C	-													ctgggagcccttcgagccatCccccccgcgcagctgcagga					rs147560025		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:67176565delC	uc001ola.2	+	9	983	c.954delC	c.(952-954)ATCfs	p.I318fs	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_Frame_Shift_Del_p.P254fs|TBC1D10C_uc001olb.2_RNA	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	318						intracellular	Rab GTPase activator activity				0			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TTCGAGCCATCCCCCCCGCGC	0.687													-	67176565	C	-	67176565	7	5	20	1	0	1	0	1	0	0	0	0	15597	845	30	0	984	0	TBC1D10C	11	67176565	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	108014	67176565	67829951	1209	18880											
CARNS1	57571	broad.mit.edu	37	chr11	67190978	67190978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagttggtgcgggctcgcGgcctcaagctagatggctgc	16	11	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:67190978G>A	uc009yrp.2	+	9	1842	c.1390G>A	c.(1390-1392)GGC>AGC	p.G464S	PPP1CA_uc001okx.1_5'Flank|CARNS1_uc001olc.3_Missense_Mutation_p.G603S	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	ATP-grasp domain containing 1	464					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding				0						GCGGGCTCGCGGCCTCAAGCT	0.612													A	67190978	G	A	67190978	3	1	20	1	0	0	0	0	1	0	0	0	2656	1116	39	1	1793	1	CARNS1	11	67190978	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	14413	67190978	67815538	1210	18881											
TBX10	347853	broad.mit.edu	37	chr11	67399140	67399140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggagccccagcccagctGggagaggcaggcctccttga	14	14	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:67399140G>A	uc001omp.2	-	8	1182	c.1094C>T	c.(1093-1095)CCA>CTA	p.P365L	NUDT8_uc001omn.2_5'Flank|NUDT8_uc001omo.1_5'Flank	NM_005995	NP_005986	O75333	TBX10_HUMAN	T-box 10	365					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						CAGCCCAGCTGGGAGAGGCAG	0.677													A	67399140	G	A	67399140	3	1	20	1	0	0	0	0	1	0	0	0	15648	1348	47	4	67	4	TBX10	11	67399140	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	208162	67399140	67607376	1211	18882											
SAPS3	55291	broad.mit.edu	37	chr11	68370949	68370949	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgccaagacagagactgcGgtcttcaaaaggtaaccagg	12	9	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:68370949G>A	uc001onw.2	+	22	2706	c.2439G>A	c.(2437-2439)GCG>GCA	p.A813A	SAPS3_uc001onv.2_Silent_p.A813A|SAPS3_uc001ony.3_Silent_p.A784A|SAPS3_uc001onx.2_Silent_p.A807A|SAPS3_uc009ysh.2_Silent_p.A733A|SAPS3_uc001onu.2_Silent_p.A733A|SAPS3_uc010rqc.1_Silent_p.A581A|SAPS3_uc010rqd.1_Silent_p.A496A|SAPS3_uc001onz.2_Silent_p.A141A|SAPS3_uc001ooa.2_Silent_p.A263A	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	SAPS domain family, member 3 isoform 6	813					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding				0			LUAD - Lung adenocarcinoma(13;0.102)			CAGAGACTGCGGTCTTCAAAA	0.463													A	68370949	G	A	68370949	2	1	20	1	0	0	0	0	0	0	0	1	13838	1103	39	1		1	SAPS3	11	68370949	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	971809	68370949	66635567	1212	18883											
INPPL1	3636	broad.mit.edu	37	chr11	71948209	71948210	+	Frame_Shift_Ins	INS	-	-	C													gaaccagaaggggtggcggcINSccccccacccaagaacagct							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:71948208_71948209G>GC	uc001osf.3	+	25	3067_3068	c.2920_2921G>GC	c.(2920-2922)gccfs	p.A974fs	INPPL1_uc001osg.3_Frame_Shift_Ins_p.A732fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	974	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding	p.P977fs*7(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGGGGTGGCGGCCCCCCCACCC	0.634													C	71948210	-	C	71948209	7	5	20	1	0	1	1	0	0	0	0	0	7761	739	26	0	3023	0	INPPL1	11	71948209	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	3577260	71948209	63058307	1213	18884											
DNAJB13	374407	broad.mit.edu	37	chr11	73677268	73677268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggttggaggcagggcacacGcatcacctttgagaaggaag	15	9	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:73677268G>A	uc001ouo.2	+	5	1329	c.578G>A	c.(577-579)CGC>CAC	p.R193H		NM_153614	NP_705842	P59910	DJB13_HUMAN	testis spermatogenesis apoptosis-related protein	193					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding				0	Breast(11;7.42e-05)					CAGGGCACACGCATCACCTTT	0.552													A	73677268	G	A	73677268	3	1	20	1	0	0	0	0	1	0	0	0	4618	1087	38	1	596	1	DNAJB13	11	73677268	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1729059	73677268	61329248	1214	18885											
PGM2L1	283209	broad.mit.edu	37	chr11	74082034	74082034	+	Splice_Site	DEL	A	A	-													gcagtgagtttagcaagcctAaaaaaagagagatttaactt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:74082033_74082033TA>T	uc001ovb.1	-	4	683	c.387_splice	c.e4-1	p.R129_splice		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	Homo sapiens phosphoglucomutase 2-like 1 (PGM2L1), mRNA.	129					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TTAGCAAGCCTAAAAAAAGAG	0.343													-	74082034	A	-	74082034	8	5	20	1	0	1	0	1	0	0	1	0	11799	377	13	0		0	PGM2L1	11	74082034	Splice_Site	DEL	A	TCGA-BR-4362-01A-01D-1158-08	404766	74082034	60924482	1215	18886											
SERPINH1	871	broad.mit.edu	37	chr11	75282937	75282937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgtgttccacgccaccGcctttgagttggacacagat	10	14	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:75282937G>A	uc001owr.2	+	5	1295	c.1066G>A	c.(1066-1068)GCC>ACC	p.A356T	SERPINH1_uc009yug.2_Missense_Mutation_p.A356T|SERPINH1_uc001ows.2_Missense_Mutation_p.A356T|SERPINH1_uc001owt.2_Missense_Mutation_p.A139T	NM_001235	NP_001226	P50454	SERPH_HUMAN	serine (or cysteine) proteinase inhibitor, clade	356					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			ovary(2)	2	Ovarian(111;0.11)					CCACGCCACCGCCTTTGAGTT	0.602													A	75282937	G	A	75282937	3	1	20	1	0	0	0	0	1	0	0	0	14117	1087	38	1	1080	1	SERPINH1	11	75282937	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1200903	75282937	59723579	1216	18887											
RSF1	51773	broad.mit.edu	37	chr11	77378348	77378348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatttgcatctccatgagCattgtcacaactctcctcct	5	14	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:77378348C>T	uc001oyn.2	-	16	4060	c.3940G>A	c.(3940-3942)GCT>ACT	p.A1314T	RSF1_uc001oym.2_Missense_Mutation_p.A1062T	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1314					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TCTCCATGAGCATTGTCACAA	0.537													T	77378348	C	T	77378348	3	4	20	1	0	0	0	0	1	0	0	0	13699	710	25	2	389	2	RSF1	11	77378348	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2095411	77378348	57628168	1217	18888											
RSF1	51773	broad.mit.edu	37	chr11	77394826	77394826	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttggatttttttgaatcTtttttcttttcttcttgatc	5	6	4	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:77394826T>C	uc001oyn.2	-	11	3114	c.2994A>G	c.(2992-2994)AAA>AAG	p.K998K	RSF1_uc001oym.2_Silent_p.K746K	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	998	Potential.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTTTTGAATCTTTTTTCTTTT	0.338													C	77394826	T	C	77394826	2	2	20	1	0	0	0	0	0	0	0	1	13699	1606	56	3		3	RSF1	11	77394826	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	16478	77394826	57611690	1218	18889											
FAM181B	220382	broad.mit.edu	37	chr11	82444597	82444597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgcgggtggcctcgcgcaCgtcccctccttcggctcccg	12	19	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:82444597C>T	uc001ozp.2	-	1	310	c.175G>A	c.(175-177)GTG>ATG	p.V59M		NM_175885	NP_787081	A6NEQ2	F181B_HUMAN	hypothetical protein LOC220382	59										large_intestine(1)	1						GCCTCGCGCACGTCCCCTCCT	0.662													T	82444597	C	T	82444597	3	4	20	1	0	0	0	0	1	0	0	0	5509	536	19	1	1109	1	FAM181B	11	82444597	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	5049771	82444597	52561919	1219	18890											
DLG2	1740	broad.mit.edu	37	chr11	83770417	83770417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaataggtcgtcttctaCgcacatacagccgaacgata	7	12	2	0	rs150156552		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:83770417C>T	uc001paj.2	-	6	848	c.545G>A	c.(544-546)CGT>CAT	p.R182H	DLG2_uc001pai.2_Missense_Mutation_p.R131H|DLG2_uc010rsy.1_Missense_Mutation_p.R149H|DLG2_uc010rsz.1_Missense_Mutation_p.R182H|DLG2_uc010rta.1_Missense_Mutation_p.R182H|DLG2_uc001pak.2_Missense_Mutation_p.R287H|DLG2_uc010rtb.1_Missense_Mutation_p.R149H|DLG2_uc001pal.1_Missense_Mutation_p.R182H|DLG2_uc001pam.1_Missense_Mutation_p.R221H	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	182	PDZ 1.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCGTCTTCTACGCACATACAG	0.453													T	83770417	C	T	83770417	3	4	20	1	0	0	0	0	1	0	0	0	4555	536	19	1	2189	1	DLG2	11	83770417	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1325820	83770417	51236099	1220	18891											
TMEM126A	84233	broad.mit.edu	37	chr11	85367435	85367435	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctgtctttagaaagatgTtatttcctattttgctccag	7	8	1	2	rs11556796		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:85367435T>C	uc001par.2	+	5	574	c.478T>C	c.(478-480)TTA>CTA	p.L160L		NM_032273	NP_115649	Q9H061	T126A_HUMAN	transmembrane protein 126A	160						integral to membrane|mitochondrion				ovary(2)	2		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TAGAAAGATGTTATTTCCTAT	0.368													C	85367435	T	C	85367435	2	2	20	1	0	0	0	0	0	0	0	1	16035	1722	60	3		3	TMEM126A	11	85367435	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1597018	85367435	49639081	1221	18892											
CCDC89	220388	broad.mit.edu	37	chr11	85396776	85396776	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcggagcatcaactcgTggttggctgctagggtcata	14	8	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:85396776T>G	uc001pau.1	-	1	545	c.398A>C	c.(397-399)CAC>CCC	p.H133P		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	133	Potential.					cytoplasm|nucleus					0		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CATCAACTCGTGGTTGGCTGC	0.522													G	85396776	T	G	85396776	3	3	20	1	0	0	0	0	1	0	0	0	2866	1696	59	5	730	5	CCDC89	11	85396776	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	29341	85396776	49609740	1222	18893											
PICALM	8301	broad.mit.edu	37	chr11	85694973	85694973	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattcaaagtcaacattaagGccagctgaagggtgtggctg	13	7	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:85694973G>T	uc001pbm.2	-	14	1738	c.1452C>A	c.(1450-1452)GGC>GGA	p.G484G	PICALM_uc001pbl.2_Silent_p.G434G|PICALM_uc001pbn.2_Silent_p.G477G|PICALM_uc010rtl.1_Silent_p.G383G|PICALM_uc001pbk.2_5'Flank|PICALM_uc010rtk.1_Silent_p.G66G|PICALM_uc001pbo.1_Silent_p.G116G	NM_007166	NP_009097	Q13492	PICAL_HUMAN	phosphatidylinositol-binding clathrin assembly	484					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			urinary_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				CAACATTAAGGCCAGCTGAAG	0.323			T	MLLT10|MLL	TALL|AML|								T	85694973	G	T	85694973	2	4	20	1	0	0	0	0	0	0	0	1	11880	1190	42	5		5	PICALM	11	85694973	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	298197	85694973	49311543	1223	18894											
FZD4	8322	broad.mit.edu	37	chr11	86663069	86663069	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggaaaacctagaagaatcGatcaggaaggtcagtactgt	11	6	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:86663069G>A	uc001pce.2	-	2	1035	c.729C>T	c.(727-729)ATC>ATT	p.I243I	PRSS23_uc001pcc.1_RNA	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	frizzled 4 precursor	243	Helical; Name=1; (Potential).				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAGAAGAATCGATCAGGAAGG	0.468													A	86663069	G	A	86663069	2	1	20	1	0	0	0	0	0	0	0	1	6132	1048	37	1		1	FZD4	11	86663069	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	968096	86663069	48343447	1224	18895											
CTSC	1075	broad.mit.edu	37	chr11	88068203	88068203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgccaaggtcatcatatgCtgtatccagcttctgaaggt	9	9	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:88068203C>T	uc001pck.3	-	2	321	c.220G>A	c.(220-222)GCA>ACA	p.A74T	CTSC_uc001pcl.3_5'UTR|CTSC_uc001pcm.3_Missense_Mutation_p.A74T|CTSC_uc001pcn.3_Missense_Mutation_p.A74T	NM_001814	NP_001805	P53634	CATC_HUMAN	cathepsin C isoform a preproprotein	74			Missing (in PLS).		immune response	lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCATCATATGCTGTATCCAGC	0.348													T	88068203	C	T	88068203	3	4	20	1	0	0	0	0	1	0	0	0	4031	797	28	2	1326	2	CTSC	11	88068203	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1405134	88068203	46938313	1225	18896											
GRM5	2915	broad.mit.edu	37	chr11	88258487	88258487	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttgcttacctgctcattgTtgctctcccaccattcccca	5	16	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:88258487T>G	uc001pcq.2	-	8	2916	c.2716A>C	c.(2716-2718)ACA>CCA	p.T906P	GRM5_uc009yvm.2_Intron	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	906	Cytoplasmic (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTGCTCATTGTTGCTCTCCCA	0.507													G	88258487	T	G	88258487	3	3	20	1	0	0	0	0	1	0	0	0	6800	1725	60	5	930	5	GRM5	11	88258487	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	190284	88258487	46748029	1226	18897											
NOX4	50507	broad.mit.edu	37	chr11	89173856	89173856	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctaagaataacaacttacCagttgtgaagagaagttttc	9	6	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:89173856C>A	uc001pct.2	-	6	714	c.475G>T	c.(475-477)GTT>TTT	p.V159F	NOX4_uc009yvr.2_Missense_Mutation_p.V134F|NOX4_uc001pcu.2_Missense_Mutation_p.V85F|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Missense_Mutation_p.V159F|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Intron|NOX4_uc009yvp.2_Missense_Mutation_p.V159F|NOX4_uc010rtv.1_Missense_Mutation_p.V135F|NOX4_uc009yvq.2_Missense_Mutation_p.V135F|NOX4_uc009yvs.1_RNA	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a	159	Ferric oxidoreductase.|Helical; (Potential).				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AACAACTTACCAGTTGTGAAG	0.234													A	89173856	C	A	89173856	3	1	20	1	0	0	0	0	1	0	0	0	10558	608	21	5	1313	5	NOX4	11	89173856	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	915369	89173856	45832660	1227	18898											
FAT3	120114	broad.mit.edu	37	chr11	92577541	92577541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcacatgcatgggttcCggcgcaccctgcggaatgca	14	13	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:92577541C>T	uc001pdj.3	+	18	11025	c.11008C>T	c.(11008-11010)CGG>TGG	p.R3670W	FAT3_uc001pdi.3_Missense_Mutation_p.R110W	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3670	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCATGGGTTCCGGCGCACCCT	0.582										TCGA Ovarian(4;0.039)			T	92577541	C	T	92577541	3	4	20	1	0	0	0	0	1	0	0	0	5691	643	23	1	11078	1	FAT3	11	92577541	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	3403685	92577541	42428975	1228	18899											
GPR83	10888	broad.mit.edu	37	chr11	94113477	94113477	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagggtggcctgtcctcCtgaggcttgggaggtctttg	19	8	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:94113477C>T	uc001pet.2	-	4	1282	c.1110G>A	c.(1108-1110)CAG>CAA	p.Q370Q		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83 precursor	370	Cytoplasmic (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			central_nervous_system(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCCTGTCCTCCTGAGGCTTGG	0.547													T	94113477	C	T	94113477	2	4	20	1	0	0	0	0	0	0	0	1	6713	680	24	4		4	GPR83	11	94113477	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1535936	94113477	40893039	1229	18900											
JRKL	8690	broad.mit.edu	37	chr11	96124882	96124882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaatgacctgaaatcattcTggaagaagctaactctgttg	9	7	3	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:96124882T>C	uc009ywu.2	+	2	1321	c.1069T>C	c.(1069-1071)TGG>CGG	p.W357R	CCDC82_uc001pfx.3_5'Flank|CCDC82_uc009ywr.2_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Missense_Mutation_p.W357R	NM_003772	NP_003763	Q9Y4A0	JERKL_HUMAN	jerky homolog-like	357	DDE.				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		GAAATCATTCTGGAAGAAGCT	0.358													C	96124882	T	C	96124882	3	2	20	1	0	0	0	0	1	0	0	0	7965	1580	55	3	1071	3	JRKL	11	96124882	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2011405	96124882	38881634	1230	18901											
PGR	5241	broad.mit.edu	37	chr11	100996890	100996890	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggcttctgaatccggcCttgaaatgcaaaacaaagta	10	9	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:100996890C>T	uc001pgh.2	-	2	2381	c.1638_splice	c.e2-1	p.R546_splice	PGR_uc001pgi.2_Splice_Site_p.R546_splice|PGR_uc009yww.1_Splice_Site|PGR_uc001pgj.2_Splice_Site|PGR_uc009ywx.1_Splice_Site|uc010rum.1_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor						cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TGAATCCGGCCTTGAAATGCA	0.388													T	100996890	C	T	100996890	5	4	20	1	0	0	0	0	0	0	1	0	11805	695	24	4	1192	4	PGR	11	100996890	Splice_Site	SNP	C	TCGA-BR-4362-01A-01D-1158-08	4872008	100996890	34009626	1231	18902											
TRPC6	7225	broad.mit.edu	37	chr11	101362460	101362460	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcactgcattgacagtttttTgtagtcattctaggaaaaac	8	7	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:101362460T>G	uc001pgk.3	-	3	1380	c.955A>C	c.(955-957)AAA>CAA	p.K319Q	TRPC6_uc009ywy.2_Intron|TRPC6_uc009ywz.1_Missense_Mutation_p.K319Q	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	319	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GACAGTTTTTTGTAGTCATTC	0.373													G	101362460	T	G	101362460	3	3	20	1	0	0	0	0	1	0	0	0	16580	1821	63	5	1884	5	TRPC6	11	101362460	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	365570	101362460	33644056	1232	18903											
BIRC3	330	broad.mit.edu	37	chr11	102196012	102196012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgcagacacatgcagccCgctttaaaacattctttaac	6	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:102196012C>T	uc001pgx.2	+	3	994	c.772C>T	c.(772-774)CGC>TGC	p.R258C		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	baculoviral IAP repeat-containing protein 3	258	BIR 3.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|skin(1)	4	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		ACATGCAGCCCGCTTTAAAAC	0.408			T	MALT1	MALT								T	102196012	C	T	102196012	3	4	20	1	0	0	0	0	1	0	0	0	1436	652	23	1	774	1	BIRC3	11	102196012	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	833552	102196012	32810504	1233	18904											
DYNC2H1	79659	broad.mit.edu	37	chr11	103048288	103048288	+	Frame_Shift_Del	DEL	A	A	-													tatttctttcctactagatcAaaaaggctttagaattgtat							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:103048288delA	uc001pho.2	+	38	6022	c.5878delA	c.(5878-5880)AAAfs	p.K1960fs	DYNC2H1_uc001phn.1_Frame_Shift_Del_p.K1960fs|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1960	AAA 2 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTACTAGATCAAAAAGGCTTT	0.318													-	103048288	A	-	103048288	7	5	20	1	0	1	0	1	0	0	0	0	4846	131	5	0	6028	0	DYNC2H1	11	103048288	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	852276	103048288	31958228	1234	18905											
DYNC2H1	79659	broad.mit.edu	37	chr11	103070064	103070064	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgagtttccctggaggTtcacttctattagcaggacg	12	9	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:103070064T>C	uc001pho.2	+	49	8091	c.7947T>C	c.(7945-7947)GGT>GGC	p.G2649G	DYNC2H1_uc001phn.1_Silent_p.G2649G|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2649	AAA 4 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCCCTGGAGGTTCACTTCTAT	0.433													C	103070064	T	C	103070064	2	2	20	1	0	0	0	0	0	0	0	1	4846	1712	60	3		3	DYNC2H1	11	103070064	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	21776	103070064	31936452	1235	18906											
DDI1	414301	broad.mit.edu	37	chr11	103908639	103908639	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagacttattttcttcctgaGggagagttgcccttatgctc	9	10	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:103908639G>T	uc001phr.2	+	1	1332	c.1089G>T	c.(1087-1089)GAG>GAT	p.E363D	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	363					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TTCTTCCTGAGGGAGAGTTGC	0.458													T	103908639	G	T	103908639	3	4	20	1	0	0	0	0	1	0	0	0	4328	991	35	5	1091	5	DDI1	11	103908639	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	838575	103908639	31097877	1236	18907											
ALKBH8	91801	broad.mit.edu	37	chr11	107427686	107427686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaccgggagcagctggttcCgactcacaccattacccaaa	8	14	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:107427686C>T	uc010rvr.1	-	3	248	c.173G>A	c.(172-174)CGG>CAG	p.R58Q	ALKBH8_uc010rvq.1_5'UTR|ALKBH8_uc009yxp.2_Missense_Mutation_p.R58Q|ALKBH8_uc001pjl.2_RNA	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8	58	RRM.				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity				0		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		CAGCTGGTTCCGACTCACACC	0.433													T	107427686	C	T	107427686	3	4	20	1	0	0	0	0	1	0	0	0	533	652	23	1	1861	1	ALKBH8	11	107427686	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	3519047	107427686	27578830	1237	18908											
EXPH5	23086	broad.mit.edu	37	chr11	108383615	108383615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagatctaaagaatcacaCgaggtcttgtggccaggagt	12	8	3	2	rs114840330	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:108383615C>T	uc001pkk.2	-	6	2730	c.2619G>A	c.(2617-2619)TCG>TCA	p.S873S	EXPH5_uc010rvy.1_Silent_p.S685S|EXPH5_uc010rvz.1_Silent_p.S717S|EXPH5_uc010rwa.1_Silent_p.S797S	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	873					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAGAATCACACGAGGTCTTGT	0.413													T	108383615	C	T	108383615	2	4	20	1	0	0	0	0	0	0	0	1	5322	523	19	1		1	EXPH5	11	108383615	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	955929	108383615	26622901	1238	18909											
FDXACB1	91893	broad.mit.edu	37	chr11	111747699	111747699	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctctacataatgccacGtggacttctccttcctctgc	6	15	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:111747699G>A	uc001pmc.3	-	3	663	c.366C>T	c.(364-366)CAC>CAT	p.H122H	ALG9_uc010rwo.1_Translation_Start_Site|FDXACB1_uc009yyi.2_Translation_Start_Site|C11orf1_uc001pmd.2_5'Flank	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain	122					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0						ATAATGCCACGTGGACTTCTC	0.493													A	111747699	G	A	111747699	2	1	20	1	0	0	0	0	0	0	0	1	5806	1136	40	1		1	FDXACB1	11	111747699	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3364084	111747699	23258817	1239	18910											
ZBTB16	7704	broad.mit.edu	37	chr11	114112978	114112978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatggaggtccacgcgggcGtgcgcagctacatctgcagt	14	12	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:114112978G>A	uc001pop.2	+	5	1807	c.1543G>A	c.(1543-1545)GTG>ATG	p.V515M	ZBTB16_uc001poq.2_Missense_Mutation_p.V515M	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	515					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CCACGCGGGCGTGCGCAGCTA	0.622													A	114112978	G	A	114112978	3	1	20	1	0	0	0	0	1	0	0	0	17523	1145	40	1	1557	1	ZBTB16	11	114112978	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2365279	114112978	20893538	1240	18911											
APOC3	345	broad.mit.edu	37	chr11	116701502	116701502	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcaggagcttcagaggcCgaggatgcctcccttctcag	11	14	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:116701502C>T	uc001ppt.1	+	3	115	c.69C>T	c.(67-69)GCC>GCT	p.A23A		NM_000040	NP_000031	P02656	APOC3_HUMAN	apolipoprotein C-III precursor	23					Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding				0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CTTCAGAGGCCGAGGATGCCT	0.627													T	116701502	C	T	116701502	2	4	20	1	0	0	0	0	0	0	0	1	799	639	23	1		1	APOC3	11	116701502	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2588524	116701502	18305014	1241	18912											
PAFAH1B2	5049	broad.mit.edu	37	chr11	117030719	117030719	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgggagactccatggtgCagttaatgcagcaatatgag	13	7	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:117030719C>T	uc001pqe.1	+	3	253	c.151C>T	c.(151-153)CAG>TAG	p.Q51*	PAFAH1B2_uc009yzk.1_Nonsense_Mutation_p.Q51*|PAFAH1B2_uc009yzl.1_Nonsense_Mutation_p.Q51*|PAFAH1B2_uc009yzm.2_RNA|PAFAH1B2_uc009yzn.2_RNA|PAFAH1B2_uc009yzj.1_Intron	NM_002572	NP_002563	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase,	51					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		CTCCATGGTGCAGTTAATGCA	0.393			T	IGH@	MLCLS								T	117030719	C	T	117030719	4	4	20	1	0	0	0	0	0	1	0	0	11385	711	25	2	157	2	PAFAH1B2	11	117030719	Nonsense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	329217	117030719	17975797	1242	18913											
CEP164	22897	broad.mit.edu	37	chr11	117241945	117241945	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaagggcgacagggaagtggAgcaagacctggtcttccaga	15	8	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:117241945A>T	uc001prc.2	+	9	1062	c.915A>T	c.(913-915)GGA>GGT	p.G305G	CEP164_uc001prb.2_Silent_p.G305G|CEP164_uc010rxk.1_Silent_p.G279G|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	305					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGGGAAGTGGAGCAAGACCTG	0.557													T	117241945	A	T	117241945	2	4	20	1	0	0	0	0	0	0	0	1	3249	291	11	5		5	CEP164	11	117241945	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	211226	117241945	17764571	1243	18914											
DSCAML1	57453	broad.mit.edu	37	chr11	117391893	117391893	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtctgggccttgcgggTagcgaagcactggtaggccc	18	11	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:117391893T>C	uc001prh.1	-	6	1347	c.1345A>G	c.(1345-1347)ACC>GCC	p.T449A	DSCAML1_uc001pri.1_Missense_Mutation_p.T253A	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	389	Extracellular (Potential).|Ig-like C2-type 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCCTTGCGGGTAGCGAAGCAC	0.657													C	117391893	T	C	117391893	3	2	20	1	0	0	0	0	1	0	0	0	4769	1638	57	3	5108	3	DSCAML1	11	117391893	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	149948	117391893	17614623	1244	18915											
AMICA1	120425	broad.mit.edu	37	chr11	118081424	118081424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaatagtatagcacatattCgtcctgaagggcaaaacagt	9	7	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:118081424C>T	uc001psk.2	-	4	376	c.202G>A	c.(202-204)GAA>AAA	p.E68K	AMICA1_uc001psh.2_Missense_Mutation_p.E29K|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.E58K|AMICA1_uc001psj.2_Missense_Mutation_p.E68K|AMICA1_uc010rxw.1_Missense_Mutation_p.E29K|AMICA1_uc010rxx.1_Missense_Mutation_p.E68K|AMICA1_uc001psl.1_Missense_Mutation_p.E24K	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen	68	Ig-like V-type 1.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				ovary(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGCACATATTCGTCCTGAAGG	0.498													T	118081424	C	T	118081424	3	4	20	1	0	0	0	0	1	0	0	0	574	893	31	1	1010	1	AMICA1	11	118081424	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	689531	118081424	16925092	1245	18916											
MPZL3	196264	broad.mit.edu	37	chr11	118110974	118110974	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgatatgtccagtctatagtAagtttgtcagtgacatctga	9	7	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:118110974A>T	uc001psm.2	-	2	194	c.192T>A	c.(190-192)CTT>CTA	p.L64L	MPZL3_uc010rxy.1_Silent_p.L52L|MPZL3_uc010rxz.1_RNA|MPZL3_uc009yzy.2_Intron	NM_198275	NP_938016	Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3 precursor	64	Ig-like V-type.				cell adhesion	integral to membrane					0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGTCTATAGTAAGTTTGTCAG	0.433													T	118110974	A	T	118110974	2	4	20	1	0	0	0	0	0	0	0	1	9751	349	13	5		5	MPZL3	11	118110974	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	29550	118110974	16895542	1246	18917											
MLL	4297	broad.mit.edu	37	chr11	118374596	118374596	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaagcgaggcaagagatcAgctgaaggacaggtggatgg	17	5	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:118374596A>G	uc001pta.2	+	27	8003	c.7980A>G	c.(7978-7980)TCA>TCG	p.S2660S	MLL_uc001ptb.2_Silent_p.S2663S	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2660					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GCAAGAGATCAGCTGAAGGAC	0.453			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								G	118374596	A	G	118374596	2	3	20	1	0	0	0	0	0	0	0	1	9620	175	7	3		3	MLL	11	118374596	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	263622	118374596	16631920	1247	18918											
TTC36	143941	broad.mit.edu	37	chr11	118399486	118399486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaccgtgcccaggcccggcGactccagggagacgtggcag	15	15	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:118399486G>A	uc001ptg.1	+	2	287	c.287G>A	c.(286-288)CGA>CAA	p.R96Q	TTC36_uc010ryb.1_RNA|TTC36_uc010ryc.1_Missense_Mutation_p.R37Q|TMEM25_uc010ryd.1_5'Flank|TMEM25_uc001ptk.3_5'Flank|TMEM25_uc010rye.1_5'Flank|TMEM25_uc001pth.2_5'Flank|TMEM25_uc009zad.2_5'Flank|TMEM25_uc001pti.2_5'Flank|TMEM25_uc010ryf.1_5'Flank|TMEM25_uc001ptl.2_5'Flank|TMEM25_uc001ptm.2_5'Flank	NM_001080441	NP_001073910	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	96	TPR 2.						binding				0						CAGGCCCGGCGACTCCAGGGA	0.587													A	118399486	G	A	118399486	3	1	20	1	0	0	0	0	1	0	0	0	16701	1058	37	1	293	1	TTC36	11	118399486	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	24890	118399486	16607030	1248	18919											
CBL	867	broad.mit.edu	37	chr11	119156153	119156153	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatctgccccaagttccagTgatccctggacaggaagaga	11	11	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:119156153T>C	uc001pwe.2	+	11	1956	c.1818T>C	c.(1816-1818)AGT>AGC	p.S606S		NM_005188	NP_005179	P22681	CBL_HUMAN	Cas-Br-M (murine) ecotropic retroviral	606	Pro-rich.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CAAGTTCCAGTGATCCCTGGA	0.562									CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome				C	119156153	T	C	119156153	2	2	20	1	0	0	0	0	0	0	0	1	2700	1693	59	3		3	CBL	11	119156153	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	756667	119156153	15850363	1249	18920											
C1QTNF5	114902	broad.mit.edu	37	chr11	119210190	119210191	+	Frame_Shift_Ins	INS	-	-	C													ggctccagcctcaccatggcINScccccccgagagcgaggctg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:119210189_119210190G>GC	uc001pwj.2	-	14	3379_3380	c.583_584C>GC	c.(583-585)gccfs	p.A195fs		NM_015645	NP_056460	Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	147	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCTCACCATGGCCCCCCCCGAG	0.589													C	119210191	-	C	119210190	7	5	20	1	0	1	1	0	0	0	0	0	1966	739	26	0	152	0	C1QTNF5	11	119210190	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	54037	119210190	15796326	1250	18921											
TECTA	7007	broad.mit.edu	37	chr11	121037433	121037433	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcaccggcatcgagggggaaGattttatctcctttcagatc	11	10	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:121037433G>T	uc010rzo.1	+	17	5530	c.5530G>T	c.(5530-5532)GAT>TAT	p.D1844Y		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1844	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGAGGGGGAAGATTTTATCTC	0.498													T	121037433	G	T	121037433	3	4	20	1	0	0	0	0	1	0	0	0	15744	942	33	5	5596	5	TECTA	11	121037433	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1827243	121037433	13969083	1251	18922											
TECTA	7007	broad.mit.edu	37	chr11	121038774	121038774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctgcagtccaatggcacGcatatcatgtataaaaacac	7	10	2	0	rs146930070		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:121038774G>A	uc010rzo.1	+	18	5598	c.5598G>A	c.(5596-5598)ACG>ACA	p.T1866T		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1866	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCAATGGCACGCATATCATGT	0.443													A	121038774	G	A	121038774	2	1	20	1	0	0	0	0	0	0	0	1	15744	1074	38	1		1	TECTA	11	121038774	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1341	121038774	13967742	1252	18923											
OR10G7	390265	broad.mit.edu	37	chr11	123909354	123909354	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggccaggtagcgatcatAggacatgactgtgtagagga	15	6	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:123909354A>G	uc001pzq.1	-	1	355	c.355T>C	c.(355-357)TAT>CAT	p.Y119H		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TAGCGATCATAGGACATGACT	0.577													G	123909354	A	G	123909354	3	3	20	1	0	0	0	0	1	0	0	0	10902	420	15	3	584	3	OR10G7	11	123909354	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2870580	123909354	11097162	1253	18924											
VWA5A	4013	broad.mit.edu	37	chr11	124007961	124007961	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctgccccattgaagaTaaaatgccaatcaggtaatg	8	9	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:124007961T>C	uc001pzu.2	+	15	2074	c.1865T>C	c.(1864-1866)ATA>ACA	p.I622T	VWA5A_uc001pzt.2_Missense_Mutation_p.I622T	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	622										upper_aerodigestive_tract(1)|ovary(1)	2						CCATTGAAGATAAAATGCCAA	0.418													C	124007961	T	C	124007961	3	2	20	1	0	0	0	0	1	0	0	0	17239	1406	49	3	1919	3	VWA5A	11	124007961	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	98607	124007961	10998555	1254	18925											
NFRKB	4798	broad.mit.edu	37	chr11	129745274	129745274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgctggtgacatctggtGcaagaaactgggagtcctta	14	7	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:129745274G>A	uc001qfi.2	-	18	2033	c.1832C>T	c.(1831-1833)GCA>GTA	p.A611V	NFRKB_uc001qfg.2_Missense_Mutation_p.A636V|NFRKB_uc001qfh.2_Missense_Mutation_p.A634V|NFRKB_uc010sbw.1_Missense_Mutation_p.A621V|NFRKB_uc009zcr.2_5'Flank	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	611					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GACATCTGGTGCAAGAAACTG	0.378													A	129745274	G	A	129745274	3	1	20	1	0	0	0	0	1	0	0	0	10384	1319	46	2	2107	2	NFRKB	11	129745274	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	5737313	129745274	5261242	1255	18926											
KDM5A	5927	broad.mit.edu	37	chr12	420145	420145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacctgtgattccacttgcGgcagtgcttcaagacgcaca	9	13	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:420145G>A	uc001qif.1	-	21	3485	c.3122C>T	c.(3121-3123)CCG>CTG	p.P1041L	KDM5A_uc001qie.1_Missense_Mutation_p.P1041L|KDM5A_uc010sdn.1_Missense_Mutation_p.P1000L	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	1041					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						TTCCACTTGCGGCAGTGCTTC	0.493			T 	NUP98	AML								A	420145	G	A	420145	3	1	20	1	0	0	0	0	1	0	0	0	8133	1116	39	1	1982	1	KDM5A	12	420145	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08		420145	133431750	1256	18927											
CCDC77	84318	broad.mit.edu	37	chr12	521059	521059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaggagctcctggaatattAtcaaaagaagatggctgagt	11	5	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:521059A>G	uc001qig.2	+	4	365	c.185A>G	c.(184-186)TAT>TGT	p.Y62C	CCDC77_uc009zdk.2_Missense_Mutation_p.Y30C|CCDC77_uc010sdp.1_Missense_Mutation_p.Y30C|CCDC77_uc010sdq.1_Missense_Mutation_p.Y30C	NM_032358	NP_115734	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77 isoform a	62	Potential.					centrosome				ovary(1)	1	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			CTGGAATATTATCAAAAGAAG	0.478													G	521059	A	G	521059	3	3	20	1	0	0	0	0	1	0	0	0	2851	449	16	3	191	3	CCDC77	12	521059	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	100914	521059	133330836	1257	18928											
B4GALNT3	283358	broad.mit.edu	37	chr12	662881	662881	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaagtggtggcggccgcaGgccaggaaggacaagtggag	20	7	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:662881G>T	uc001qii.1	+	14	1792	c.1792G>T	c.(1792-1794)GGC>TGC	p.G598C	B4GALNT3_uc001qij.1_Missense_Mutation_p.G501C|B4GALNT3_uc001qik.1_Missense_Mutation_p.G147C	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	598	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGCGGCCGCAGGCCAGGAAGG	0.493													T	662881	G	T	662881	3	4	20	1	0	0	0	0	1	0	0	0	1268	1000	35	5	1846	5	B4GALNT3	12	662881	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	141822	662881	133189014	1258	18929											
RAD52	5893	broad.mit.edu	37	chr12	1025529	1025529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcactcttctcagctgaCggcgtggagactcgaacctg	10	15	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:1025529C>T	uc001qis.1	-	9	960	c.846G>A	c.(844-846)CCG>CCA	p.P282P	RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Silent_p.P205P|RAD52_uc001qiu.1_Silent_p.P282P|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_RNA|RAD52_uc010sdu.1_Missense_Mutation_p.V300I	NM_134424	NP_602296	P43351	RAD52_HUMAN	RAD52 homolog	282					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			TCTCAGCTGACGGCGTGGAGA	0.428								Homologous_recombination					T	1025529	C	T	1025529	2	4	20	1	0	0	0	0	0	0	0	1	12991	523	19	1		1	RAD52	12	1025529	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	362648	1025529	132826366	1259	18930											
CHD4	1108	broad.mit.edu	37	chr12	6701715	6701715	+	Frame_Shift_Del	DEL	A	A	-													caatgtcagcaaactcctccAaaaaaccttccaaattgctt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:6701714_6701714CA>C	uc001qpo.3	-	18	2957	c.2793_2793TG>G	c.(2791-2793)ttgfs	p.L931fs	CHD4_uc001qpn.3_Frame_Shift_Del_p.L924fs|CHD4_uc001qpp.3_Frame_Shift_Del_p.L928fs	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	931					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CAAACTCCTCCAAAAAACCTT	0.438													-	6701715	A	-	6701715	7	5	20	1	0	1	0	1	0	0	0	0	3327	131	5	0	3034	0	CHD4	12	6701715	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	5676186	6701715	127150180	1260	18931											
USP5	8078	broad.mit.edu	37	chr12	6972488	6972488	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaggtagccttggtttctAtggcaacgaagacgaagact	11	8	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:6972488A>G	uc001qri.3	+	15	1960	c.1901A>G	c.(1900-1902)TAT>TGT	p.Y634C	USP5_uc001qrh.3_Intron	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	634					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4						CTTGGTTTCTATGGCAACGAA	0.592													G	6972488	A	G	6972488	3	3	20	1	0	0	0	0	1	0	0	0	17078	449	16	3	1959	3	USP5	12	6972488	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	270773	6972488	126879407	1261	18932											
PTPN6	5777	broad.mit.edu	37	chr12	7064594	7064594	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaccgagtgttggaactgaaCaagaagcaggagtccgagga	14	7	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:7064594C>A	uc001qsb.2	+	6	935	c.693C>A	c.(691-693)AAC>AAA	p.N231K	PTPN6_uc001qsa.1_Missense_Mutation_p.N233K|PTPN6_uc010sfr.1_Missense_Mutation_p.N192K|PTPN6_uc009zfl.1_Missense_Mutation_p.N231K|PTPN6_uc010sfs.1_Missense_Mutation_p.N219K	NM_002831	NP_002822	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type	231					apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)	1						TGGAACTGAACAAGAAGCAGG	0.592													A	7064594	C	A	7064594	3	1	20	1	0	0	0	0	1	0	0	0	12792	477	17	5	733	5	PTPN6	12	7064594	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	92106	7064594	126787301	1262	18933											
C1RL	51279	broad.mit.edu	37	chr12	7249730	7249730	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgagggtcgtctgattctGggcaatgggggtgactggcc	17	9	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:7249730G>A	uc001qsn.2	-	6	738	c.721C>T	c.(721-723)CAG>TAG	p.Q241*	C1RL_uc009zft.2_Silent_p.P256P	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	241					complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			pancreas(1)	1						GTCTGATTCTGGGCAATGGGG	0.622													A	7249730	G	A	7249730	4	1	20	1	0	0	0	0	0	1	0	0	1973	1357	47	4	746	4	C1RL	12	7249730	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	185136	7249730	126602165	1263	18934											
GDF3	9573	broad.mit.edu	37	chr12	7848094	7848094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagtacattcccgcggacGcccagctcctttacgtagca	9	15	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:7848094G>A	uc001qte.2	-	1	267	c.231C>T	c.(229-231)GGC>GGT	p.G77G		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	growth differentiation factor 3 precursor	77					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						TCCCGCGGACGCCCAGCTCCT	0.498													A	7848094	G	A	7848094	2	1	20	1	0	0	0	0	0	0	0	1	6315	1074	38	1		1	GDF3	12	7848094	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	598364	7848094	126003801	1264	18935											
CLEC4A	50856	broad.mit.edu	37	chr12	8290779	8290779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatcccaatgagcgctgcGttgtgctaaattttcgtaaa	10	8	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:8290779G>A	uc001qtz.1	+	6	857	c.610G>A	c.(610-612)GTT>ATT	p.V204I	CLEC4A_uc009zga.1_Missense_Mutation_p.V165I|CLEC4A_uc001qub.1_Missense_Mutation_p.V171I|CLEC4A_uc001quc.1_Missense_Mutation_p.V132I|CLEC4A_uc009zgb.1_3'UTR	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A isoform	204	Extracellular (Potential).|C-type lectin.				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity				0				Kidney(36;0.0915)		TGAGCGCTGCGTTGTGCTAAA	0.438													A	8290779	G	A	8290779	3	1	20	1	0	0	0	0	1	0	0	0	3512	1145	40	1	632	1	CLEC4A	12	8290779	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	442685	8290779	125561116	1265	18936											
LOH12CR1	118426	broad.mit.edu	37	chr12	12514227	12514227	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcacggaacgtcagcaAcgatcccgatgtcatcaagt	10	13	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:12514227A>G	uc001ral.2	+	2	512	c.146A>G	c.(145-147)AAC>AGC	p.N49S	LOH12CR1_uc009zhu.2_Intron	NM_058169	NP_477517	Q969J3	L12R1_HUMAN	LOH1CR12	49										ovary(1)	1		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		AACGTCAGCAACGATCCCGAT	0.468													G	12514227	A	G	12514227	3	3	20	1	0	0	0	0	1	0	0	0	8891	43	2	3	152	3	LOH12CR1	12	12514227	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	4223448	12514227	121337668	1266	18937											
H2AFJ	55766	broad.mit.edu	37	chr12	14927470	14927470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatcccgctcctcccgcgcGggcctgcagttcccggtggg	13	17	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:14927470G>A	uc009zia.2	+	1	201	c.66G>A	c.(64-66)GCG>GCA	p.A22A	H2AFJ_uc001rch.3_RNA	NM_177925	NP_808760	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	22					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)	1						CCTCCCGCGCGGGCCTGCAGT	0.677													A	14927470	G	A	14927470	2	1	20	1	0	0	0	0	0	0	0	1	6926	1103	39	1		1	H2AFJ	12	14927470	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2413243	14927470	118924425	1267	18938											
KIAA0528	9847	broad.mit.edu	37	chr12	22625276	22625276	+	Frame_Shift_Del	DEL	A	A	-													aatttctgtattacaactatAaaagcctgtcaaaataaatt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:22625276delA	uc001rfq.2	-	18	2341	c.2113delT	c.(2113-2115)TATfs	p.Y705fs	KIAA0528_uc010sir.1_Frame_Shift_Del_p.Y520fs|KIAA0528_uc010sis.1_Frame_Shift_Del_p.Y705fs|KIAA0528_uc010sit.1_Frame_Shift_Del_p.Y707fs|KIAA0528_uc010siu.1_Frame_Shift_Del_p.Y705fs|KIAA0528_uc001rfr.2_Frame_Shift_Del_p.Y696fs	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	hypothetical protein LOC9847	705							protein binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						TTACAACTATAAAAGCCTGTC	0.234													-	22625276	A	-	22625276	7	5	20	1	0	1	0	1	0	0	0	0	8182	362	13	0	921	0	KIAA0528	12	22625276	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	7697806	22625276	111226619	1268	18939											
ITPR2	3709	broad.mit.edu	37	chr12	26568326	26568326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataatggaaaacaggtagaCgaggatgagagccaggactg	14	5	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:26568326C>T	uc001rhg.2	-	51	7633	c.7216G>A	c.(7216-7218)GTC>ATC	p.V2406I	ITPR2_uc009zjg.1_Missense_Mutation_p.V557I	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2406	Helical; (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					AACAGGTAGACGAGGATGAGA	0.413													T	26568326	C	T	26568326	3	4	20	1	0	0	0	0	1	0	0	0	7921	536	19	1	917	1	ITPR2	12	26568326	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	3943050	26568326	107283569	1269	18940											
FGD4	121512	broad.mit.edu	37	chr12	32760948	32760948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgctagaacctgttcagCggattccccggtatgagatg	11	10	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:32760948C>T	uc001rkz.2	+	8	1528	c.1051C>T	c.(1051-1053)CGG>TGG	p.R351W	FGD4_uc001rlc.2_Missense_Mutation_p.R436W|FGD4_uc001rky.2_Missense_Mutation_p.R103W|FGD4_uc001rla.2_Missense_Mutation_p.R7W|FGD4_uc010ske.1_Missense_Mutation_p.R463W|FGD4_uc001rlb.1_RNA	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	351	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					ACCTGTTCAGCGGATTCCCCG	0.383													T	32760948	C	T	32760948	3	4	20	1	0	0	0	0	1	0	0	0	5835	759	27	1	1073	1	FGD4	12	32760948	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	6192622	32760948	101090947	1270	18941											
PKP2	5318	broad.mit.edu	37	chr12	33031126	33031126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagggatgctgtcaaaaaCggtgtcgctaacagagccat	13	9	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:33031126C>T	uc001rlj.3	-	3	803	c.688G>A	c.(688-690)GTT>ATT	p.V230I	PKP2_uc001rlk.3_Missense_Mutation_p.V230I|PKP2_uc010skj.1_Missense_Mutation_p.V230I	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	230					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTGTCAAAAACGGTGTCGCTA	0.602													T	33031126	C	T	33031126	3	4	20	1	0	0	0	0	1	0	0	0	11985	536	19	1	2005	1	PKP2	12	33031126	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	270178	33031126	100820769	1271	18942											
C12orf40	283461	broad.mit.edu	37	chr12	40041751	40041751	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcacctactcctcagaaacTtgcatatgaaaaaaagcaga	6	10	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:40041751T>G	uc001rmc.2	+	6	709	c.542T>G	c.(541-543)CTT>CGT	p.L181R	C12orf40_uc009zjv.1_RNA	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	hypothetical protein LOC283461	181										ovary(6)	6						CCTCAGAAACTTGCATATGAA	0.303													G	40041751	T	G	40041751	3	3	20	1	0	0	0	0	1	0	0	0	1686	1609	56	5	564	5	C12orf40	12	40041751	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	7010625	40041751	93810144	1272	18943											
RAPGEF3	10411	broad.mit.edu	37	chr12	48134094	48134094	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaccacacttacctcccaGgtgtgggctaggcggctgat	12	13	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:48134094G>T	uc009zkp.2	-	21	2630	c.2190C>A	c.(2188-2190)ACC>ACA	p.T730T	uc001rpv.2_RNA|RAPGEF3_uc001rpw.2_Silent_p.T65T|RAPGEF3_uc001rpx.2_Silent_p.T187T|RAPGEF3_uc010sln.1_Silent_p.T227T|RAPGEF3_uc001rpy.2_RNA|RAPGEF3_uc009zkq.2_Silent_p.T730T|RAPGEF3_uc001rpz.3_Silent_p.T772T	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor 3 isoform	730					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			lung(2)|skin(1)|pancreas(1)	4	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TTACCTCCCAGGTGTGGGCTA	0.627													T	48134094	G	T	48134094	2	4	20	1	0	0	0	0	0	0	0	1	13045	987	35	5		5	RAPGEF3	12	48134094	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	8092343	48134094	85717801	1273	18944											
COL2A1	1280	broad.mit.edu	37	chr12	48375934	48375936	+	In_Frame_Del	DEL	CAA	CAA	-													tccctcagggcctttctcacCaacgtcaccctgagggaaga							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:48375933_48375935CCAA>C	uc001rqu.3	-	34	2491_2493	c.2310_2312TTGG>G	c.(2308-2313)gttggt>gtGt	p.G771del	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_In_Frame_Del_p.G702del	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	771	Triple-helical region.		G -> A (in ACG2).|G -> D (in ACG2).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GCCTTTCTCACCAACGTCACCCT	0.621													-	48375936	CAA	-	48375934	7	5	20	1	0	1	0	1	0	0	0	0	3687	594	21	0	2232	0	COL2A1	12	48375934	In_Frame_Del	DEL	CAA	TCGA-BR-4362-01A-01D-1158-08	241840	48375934	85475961	1274	18945											
COL2A1	1280	broad.mit.edu	37	chr12	48391986	48391986	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggttctcctttctgtcccTgaaacatgaaacattcacag	6	12	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:48391986T>C	uc001rqu.2	-	4	491	c.310_splice	c.e4-1	p.G104_splice	COL2A1_uc001rqv.2_Splice_Site_p.G35_splice	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor						axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TTTCTGTCCCTGAAACATGAA	0.483													C	48391986	T	C	48391986	5	2	20	1	0	0	0	0	0	0	1	0	3687	1594	55	3	4359	3	COL2A1	12	48391986	Splice_Site	SNP	T	TCGA-BR-4362-01A-01D-1158-08	16052	48391986	85459909	1275	18946											
ANP32D	23519	broad.mit.edu	37	chr12	48866788	48866788	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgaaaaagttagaaaAcctcgagagcttagaccttt	8	10	0	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:48866788A>G	uc010slt.1	+	1	341	c.341A>G	c.(340-342)AAC>AGC	p.N114S		NM_012404	NP_036536	O95626	AN32D_HUMAN	acidic nuclear phosphoprotein 32D	114	LRR 5.									ovary(1)|central_nervous_system(1)	2						AAGTTAGAAAACCTCGAGAGC	0.413													G	48866788	A	G	48866788	3	3	20	1	0	0	0	0	1	0	0	0	708	43	2	3	343	3	ANP32D	12	48866788	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	474802	48866788	84985107	1276	18947											
OR8S1	341568	broad.mit.edu	37	chr12	48921860	48921860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgcatgctccgcgctgCgcgcggcgcccacggccctg	14	20	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:48921860C>T	uc010slu.1	+	2	1054	c.1054C>T	c.(1054-1056)CGC>TGC	p.R352C		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S,	352	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CTCCGCGCTGCGCGCGGCGCC	0.662													T	48921860	C	T	48921860	3	4	20	1	0	0	0	0	1	0	0	0	11246	768	27	1	1060	1	OR8S1	12	48921860	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	55072	48921860	84930035	1277	18948											
MLL2	8085	broad.mit.edu	37	chr12	49434005	49434005	+	Frame_Shift_Del	DEL	G	G	-													ccaggggaccggacaaaattGgggggctgcccacttgggac							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:49434004_49434004TG>T	uc001rta.4	-	30	7549	c.7549_7549CA>A	c.(7549-7551)aatfs	p.N2517fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2517	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CGGACAAAATTGGGGGGCTGC	0.662			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	49434005	G	-	49434005	7	5	20	1	0	1	0	1	0	0	0	0	9621	1335	47	0	9161	0	MLL2	12	49434005	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	512145	49434005	84417890	1278	18949											
DNAJC22	79962	broad.mit.edu	37	chr12	49742913	49742913	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctttgctgcccaggtgatAgttggcatctattttggcct	11	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:49742913A>G	uc001rua.2	+	2	659	c.258A>G	c.(256-258)ATA>ATG	p.I86M	DNAJC22_uc001rub.2_Missense_Mutation_p.I86M	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	86	Helical; (Potential).				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)	1						CCCAGGTGATAGTTGGCATCT	0.552													G	49742913	A	G	49742913	3	3	20	1	0	0	0	0	1	0	0	0	4641	410	15	3	260	3	DNAJC22	12	49742913	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	308908	49742913	84108982	1279	18950											
NCKAP5L	57701	broad.mit.edu	37	chr12	50188924	50188924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcggtgcttgacctcggCgccaggggctcgctcctggc	16	14	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:50188924C>T	uc009zlk.2	-	8	2921	c.2719G>A	c.(2719-2721)GCC>ACC	p.A907T	NCKAP5L_uc001rvc.3_Missense_Mutation_p.A111T|NCKAP5L_uc001rvb.2_Missense_Mutation_p.A500T	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	903										central_nervous_system(1)	1						TTGACCTCGGCGCCAGGGGCT	0.647													T	50188924	C	T	50188924	3	4	20	1	0	0	0	0	1	0	0	0	10224	768	27	1	1309	1	NCKAP5L	12	50188924	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	446011	50188924	83662971	1280	18951											
NCKAP5L	57701	broad.mit.edu	37	chr12	50190190	50190190	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgttccgacaggggattcGcgagttccgggggagctggg	18	9	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:50190190G>A	uc009zlk.2	-	8	1655	c.1453C>T	c.(1453-1455)CGA>TGA	p.R485*	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_Nonsense_Mutation_p.R78*	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	481	Pro-rich.									central_nervous_system(1)	1						CAGGGGATTCGCGAGTTCCGG	0.662													A	50190190	G	A	50190190	4	1	20	1	0	0	0	0	0	1	0	0	10224	1095	38	1	2575	1	NCKAP5L	12	50190190	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1266	50190190	83661705	1281	18952											
SLC11A2	4891	broad.mit.edu	37	chr12	51392999	51392999	+	Frame_Shift_Del	DEL	A	A	-													ataatagtgatgagaaagccAaaaaatgcttctagcttccg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:51392998_51392998CA>C	uc001rxk.2	-	7	771	c.721_721TG>G	c.(721-723)ggcfs	p.G241fs	SLC11A2_uc001rxd.4_Frame_Shift_Del_p.G61fs|SLC11A2_uc001rxf.3_Non-coding_Transcript|SLC11A2_uc001rxe.4_Frame_Shift_Del_p.G212fs|SLC11A2_uc001rxc.4_Frame_Shift_Del_p.G212fs|SLC11A2_uc010smx.2_Frame_Shift_Del_p.G208fs|SLC11A2_uc001rxh.2_Frame_Shift_Del_p.G212fs|SLC11A2_uc010smy.2_Frame_Shift_Del_p.G175fs|SLC11A2_uc001rxj.2_Frame_Shift_Del_p.G212fs|SLC11A2_uc001rxi.3_Frame_Shift_Del_p.G212fs	NM_001174125	NP_001167596	P49281	NRAM2_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 (SLC11A2), transcript variant 1, mRNA.	212					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						ATGAGAAAGCCAAAAAATGCT	0.413													-	51392999	A	-	51392999	7	5	20	1	0	1	0	1	0	0	0	0	14381	127	5	0	1170	0	SLC11A2	12	51392999	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	1202809	51392999	82458896	1282	18953											
TFCP2	7024	broad.mit.edu	37	chr12	51492670	51492670	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgtcaattcaacagcTgttagttcttctagatagat	6	7	5	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:51492670T>C	uc001rxw.2	-	13	1767	c.1308A>G	c.(1306-1308)ACA>ACG	p.T436T	TFCP2_uc001rxv.1_Silent_p.T436T|TFCP2_uc009zlx.1_Silent_p.T385T|TFCP2_uc001rxx.2_Silent_p.T358T|TFCP2_uc009zly.1_Silent_p.T338T	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	transcription factor CP2	436					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						ATTCAACAGCTGTTAGTTCTT	0.423													C	51492670	T	C	51492670	2	2	20	1	0	0	0	0	0	0	0	1	15792	1567	55	3		3	TFCP2	12	51492670	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	99671	51492670	82359225	1283	18954											
SLC4A8	9498	broad.mit.edu	37	chr12	51865289	51865289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccccatccacatgcacaGccagctggaccaccttagcc	6	19	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:51865289G>A	uc001rys.1	+	14	2055	c.1877G>A	c.(1876-1878)AGC>AAC	p.S626N	SLC4A8_uc010sni.1_Missense_Mutation_p.S573N|SLC4A8_uc001rym.2_Missense_Mutation_p.S573N|SLC4A8_uc001ryn.2_Missense_Mutation_p.S573N|SLC4A8_uc001ryo.2_Missense_Mutation_p.S573N|SLC4A8_uc010snj.1_Missense_Mutation_p.S653N|SLC4A8_uc001ryq.3_Missense_Mutation_p.S626N|SLC4A8_uc001ryr.2_Missense_Mutation_p.S626N|SLC4A8_uc010snk.1_Missense_Mutation_p.S573N	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	626	Extracellular (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.15)		CACATGCACAGCCAGCTGGAC	0.413													A	51865289	G	A	51865289	3	1	20	1	0	0	0	0	1	0	0	0	14659	971	34	2	1931	2	SLC4A8	12	51865289	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	372619	51865289	81986606	1284	18955											
KRT85	3891	broad.mit.edu	37	chr12	52758133	52758133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctgctgtggctctcaggGccacctcctcttcatacctg	8	16	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:52758133G>A	uc001sag.2	-	3	767	c.647C>T	c.(646-648)GCC>GTC	p.A216V		NM_002283	NP_002274	P78386	KRT85_HUMAN	keratin 85	216	Rod.|Coil 1B.				epidermis development	keratin filament	protein binding|structural molecule activity			ovary(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCTCTCAGGGCCACCTCCTC	0.562													A	52758133	G	A	52758133	3	1	20	1	0	0	0	0	1	0	0	0	8499	1203	42	2	904	2	KRT85	12	52758133	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	892844	52758133	81093762	1285	18956											
KRT72	140807	broad.mit.edu	37	chr12	52981585	52981585	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgggcatctttcagggcGcagtccccccgctgttcagc	12	17	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:52981585G>A	uc001sar.2	-	7	1226	c.1140C>T	c.(1138-1140)TGC>TGT	p.C380C	KRT72_uc001saq.2_Silent_p.C380C|KRT72_uc010sns.1_Silent_p.C338C|KRT72_uc010snt.1_Silent_p.C192C	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN	keratin 72 isoform 1	380	Coil 2.|Rod.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6				BRCA - Breast invasive adenocarcinoma(357;0.195)		CTTTCAGGGCGCAGTCCCCCC	0.637													A	52981585	G	A	52981585	2	1	20	1	0	0	0	0	0	0	0	1	8485	1079	38	1		1	KRT72	12	52981585	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	223452	52981585	80870310	1286	18957											
KRT2	3849	broad.mit.edu	37	chr12	53045454	53045454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttgagaggctgcaggaggCtctggttgacagagacttcg	16	8	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:53045454C>T	uc001sat.2	-	1	506	c.473G>A	c.(472-474)AGC>AAC	p.S158N		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	158	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTGCAGGAGGCTCTGGTTGAC	0.458													T	53045454	C	T	53045454	3	4	20	1	0	0	0	0	1	0	0	0	8457	797	28	2	1482	2	KRT2	12	53045454	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	63869	53045454	80806441	1287	18958											
CSAD	51380	broad.mit.edu	37	chr12	53554090	53554090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcctgggacccatggcagCgcttgagcaggttctgtgtg	16	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:53554090C>T	uc001sby.2	-	13	1106	c.980G>A	c.(979-981)CGC>CAC	p.R327H	CSAD_uc001sbw.2_Missense_Mutation_p.R180H|CSAD_uc009zmt.2_Missense_Mutation_p.R109H|CSAD_uc010snx.1_Missense_Mutation_p.R354H|CSAD_uc001sbz.2_Missense_Mutation_p.R327H|CSAD_uc009zmu.2_Missense_Mutation_p.R180H|CSAD_uc001sca.3_RNA	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	327					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CCCATGGCAGCGCTTGAGCAG	0.607									Hereditary_Prostate_Cancer				T	53554090	C	T	53554090	3	4	20	1	0	0	0	0	1	0	0	0	3925	768	27	1	517	1	CSAD	12	53554090	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	508636	53554090	80297805	1288	18959											
PFDN5	5204	broad.mit.edu	37	chr12	53691936	53691936	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcacgccatgaaacagggTaagtttttcctggggcacct	11	10	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:53691936T>C	uc001scl.2	+	5	505	c.388_splice	c.e5+2	p.A130_splice	PFDN5_uc001scm.2_Splice_Site_p.A85_splice|PFDN5_uc001scn.2_Splice_Site|PFDN5_uc001sco.2_Splice_Site|C12orf10_uc010sof.1_5'Flank|C12orf10_uc001scp.3_5'Flank|C12orf10_uc009zmx.2_5'Flank|C12orf10_uc001scq.3_5'Flank	NM_002624	NP_002615	Q99471	PFD5_HUMAN	prefoldin subunit 5 isoform alpha						'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent	nucleus|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)	1						TGAAACAGGGTAAGTTTTTCC	0.468													C	53691936	T	C	53691936	5	2	20	1	0	0	0	0	0	0	1	0	11758	1652	57	3	408	3	PFDN5	12	53691936	Splice_Site	SNP	T	TCGA-BR-4362-01A-01D-1158-08	137846	53691936	80159959	1289	18960											
AMHR2	269	broad.mit.edu	37	chr12	53825046	53825046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgagtgtgtacagcagcGcctggctgccttggcccatc	13	13	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:53825046G>A	uc001scx.1	+	11	1589	c.1511G>A	c.(1510-1512)CGC>CAC	p.R504H	AMHR2_uc009zmy.1_3'UTR	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II isoform	504	Cytoplasmic (Potential).|Protein kinase.		R -> C (in PMDS2).		Mullerian duct regression		ATP binding|hormone binding|metal ion binding			ovary(1)|skin(1)	2					Adenosine triphosphate(DB00171)	GTACAGCAGCGCCTGGCTGCC	0.592									Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)				A	53825046	G	A	53825046	3	1	20	1	0	0	0	0	1	0	0	0	573	1087	38	1	1553	1	AMHR2	12	53825046	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	133110	53825046	80026849	1290	18961											
KIAA0748	9840	broad.mit.edu	37	chr12	55356217	55356217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacctccaacccacttacctCctccaagtcaaaagtgtcct	3	18	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:55356217C>T	uc001sgn.3	-	9	1575	c.1465G>A	c.(1465-1467)GAG>AAG	p.E489K	KIAA0748_uc001sgl.3_Missense_Mutation_p.E351K|KIAA0748_uc001sgm.3_Missense_Mutation_p.E236K|KIAA0748_uc010spb.1_Missense_Mutation_p.E236K|KIAA0748_uc010spc.1_Missense_Mutation_p.E351K|KIAA0748_uc010spd.1_Missense_Mutation_p.E489K|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	489										ovary(1)|central_nervous_system(1)	2						CCACTTACCTCCTCCAAGTCA	0.507													T	55356217	C	T	55356217	3	4	20	1	0	0	0	0	1	0	0	0	8190	864	30	4	108	4	KIAA0748	12	55356217	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1531171	55356217	78495678	1291	18962											
DNAJC14	85406	broad.mit.edu	37	chr12	56221493	56221493	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacgagtaaacagtcctActccacagtaaaacccctgg	7	12	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:56221493A>G	uc001shx.1	-	2	1154	c.950T>C	c.(949-951)GTA>GCA	p.V317A	DNAJC14_uc001shu.1_Missense_Mutation_p.V317A|DNAJC14_uc009zob.1_Missense_Mutation_p.V317A|DNAJC14_uc001shy.1_Missense_Mutation_p.V317A	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	317	Helical; (Potential).				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						AAACAGTCCTACTCCACAGTA	0.527													G	56221493	A	G	56221493	3	3	20	1	0	0	0	0	1	0	0	0	4633	391	14	3	1182	3	DNAJC14	12	56221493	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	865276	56221493	77630402	1292	18963											
WIBG	84305	broad.mit.edu	37	chr12	56295983	56295983	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttctcttgctgctgccgcctCttctcctttcgcttcaggtt	7	15	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:56295983C>G	uc001sif.1	-	3	440	c.288G>C	c.(286-288)AAG>AAC	p.K96N	WIBG_uc001sie.1_Missense_Mutation_p.K95N	NM_032345	NP_115721	Q9BRP8	WIBG_HUMAN	within bgcn homolog isoform 1	96	Potential.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	protein binding|ribosome binding|RNA binding				0						GCTGCCGCCTCTTCTCCTTTC	0.582													G	56295983	C	G	56295983	3	3	20	1	0	0	0	0	1	0	0	0	17362	912	32	5	330	5	WIBG	12	56295983	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	74490	56295983	77555912	1293	18964											
ERBB3	2065	broad.mit.edu	37	chr12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccattgcccaacctccgcGtggtgcgagggacccaggtc	12	15	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:56478854G>A	uc001sjh.2	+	3	503	c.310G>A	c.(310-312)GTG>ATG	p.V104M	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45M|ERBB3_uc001sjg.2_Missense_Mutation_p.V104M	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	104	Extracellular (Potential).		V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).		cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.V104M(1)		lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517													A	56478854	G	A	56478854	3	1	20	1	0	0	0	0	1	0	0	0	5208	1145	40	1	320	1	ERBB3	12	56478854	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	182871	56478854	77373041	1294	18965											
ERBB3	2065	broad.mit.edu	37	chr12	56482369	56482369	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcctgtgtcagggcctgtcCtcctgacaagatggaagtag	12	10	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:56482369C>A	uc001sjh.2	+	8	1110	c.917C>A	c.(916-918)CCT>CAT	p.P306H	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.P247H|ERBB3_uc001sji.2_5'UTR	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	306	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGGGCCTGTCCTCCTGACAAG	0.478													A	56482369	C	A	56482369	3	1	20	1	0	0	0	0	1	0	0	0	5208	681	24	5	1078	5	ERBB3	12	56482369	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	3515	56482369	77369526	1295	18966											
STAT2	6773	broad.mit.edu	37	chr12	56749288	56749288	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgttgctggctctccacaGgtgtttcgagaactggctct	11	11	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:56749288G>T	uc001slc.2	-	5	488	c.410C>A	c.(409-411)CCT>CAT	p.P137H	STAT2_uc001sld.2_Missense_Mutation_p.P133H|STAT2_uc010sqn.1_Missense_Mutation_p.P133H	NM_005419	NP_005410	P52630	STAT2_HUMAN	signal transducer and activator of transcription	137					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						GCTCTCCACAGGTGTTTCGAG	0.468													T	56749288	G	T	56749288	3	4	20	1	0	0	0	0	1	0	0	0	15264	1000	35	5	2225	5	STAT2	12	56749288	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	266919	56749288	77102607	1296	18967											
ATP5B	506	broad.mit.edu	37	chr12	57038606	57038606	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcatcaataggttctccAatgacattcatgattctgcc	5	11	5	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:57038606A>G	uc001slr.2	-	3	549	c.444T>C	c.(442-444)ATT>ATC	p.I148I	SNORD59B_uc001sls.1_5'Flank	NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	148					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1						TAGGTTCTCCAATGACATTCA	0.413													G	57038606	A	G	57038606	2	3	20	1	0	0	0	0	0	0	0	1	1148	126	5	3		3	ATP5B	12	57038606	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	289318	57038606	76813289	1297	18968											
GPR182	11318	broad.mit.edu	37	chr12	57389924	57389924	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcattgactgcttctccatgCtgcactgtgtcatcaacccc	6	15	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:57389924C>G	uc001smk.2	+	2	1025	c.931C>G	c.(931-933)CTG>GTG	p.L311V	RDH16_uc010sqx.1_Intron	NM_007264	NP_009195	O15218	GP182_HUMAN	G protein-coupled receptor 182	311	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(1)	1						CTTCTCCATGCTGCACTGTGT	0.542													G	57389924	C	G	57389924	3	3	20	1	0	0	0	0	1	0	0	0	6677	796	28	5	933	5	GPR182	12	57389924	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	351318	57389924	76461971	1298	18969											
STAT6	6778	broad.mit.edu	37	chr12	57499094	57499094	+	Frame_Shift_Del	DEL	G	G	-													ggtctgagtcttcagtacctGggggggctgcttctccacca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:57499093_57499093TG>T	uc009zpg.3	-	8	991	c.989_989CA>A	c.(988-990)cagfs	p.Q330fs	STAT6_uc009zpe.3_Frame_Shift_Del_p.Q281fs|STAT6_uc001sna.3_Frame_Shift_Del_p.Q281fs|STAT6_uc009zpf.3_Frame_Shift_Del_p.Q281fs|STAT6_uc010srb.2_Frame_Shift_Del_p.Q171fs|STAT6_uc010src.2_Frame_Shift_Del_p.Q171fs|STAT6_uc010srd.2_Frame_Shift_Del_p.Q171fs	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	281					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTTCAGTACCTGGGGGGGCTG	0.637													-	57499094	G	-	57499094	7	5	20	1	0	1	0	1	0	0	0	0	15269	1357	47	0	1758	0	STAT6	12	57499094	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	109170	57499094	76352801	1299	18970											
LRP1	4035	broad.mit.edu	37	chr12	57548011	57548011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgtggaacagatggccatcGactggctgacaggcaacttc	12	11	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:57548011G>A	uc001snd.2	+	7	1328	c.862G>A	c.(862-864)GAC>AAC	p.D288N	LRP1_uc001snc.1_Missense_Mutation_p.D288N	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	288	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GATGGCCATCGACTGGCTGAC	0.517													A	57548011	G	A	57548011	3	1	20	1	0	0	0	0	1	0	0	0	8951	1058	37	1	888	1	LRP1	12	57548011	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	48917	57548011	76303884	1300	18971											
R3HDM2	22864	broad.mit.edu	37	chr12	57674225	57674225	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgTtgctgctgggcagtacaagg	15	10	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:57674225T>C	uc009zpm.1	-	12	1253	c.1218A>G	c.(1216-1218)CAA>CAG	p.Q406Q	R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_Silent_p.Q67Q|R3HDM2_uc001snr.2_Silent_p.Q133Q|R3HDM2_uc001sns.2_Silent_p.Q406Q|R3HDM2_uc001snt.2_Silent_p.Q420Q|R3HDM2_uc009zpn.1_Silent_p.Q29Q	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	406	Gln-rich.					nucleus	nucleic acid binding			ovary(2)	2						gctgctgctgttgctgctgGG	0.478													C	57674225	T	C	57674225	2	2	20	1	0	0	0	0	0	0	0	1	12888	1722	60	3		3	R3HDM2	12	57674225	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	126214	57674225	76177670	1301	18972											
GLI1	2735	broad.mit.edu	37	chr12	57860075	57860075	+	Frame_Shift_Del	DEL	G	G	-													gaaggagttcgtgtgccactGggggggctgctccagggagc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:57860074_57860074TG>T	uc001snx.3	+	7	908	c.814_814TG>T	c.(814-816)tggfs	p.W272fs	GLI1_uc021qzi.1_Frame_Shift_Del_p.W231fs|GLI1_uc009zpq.3_Frame_Shift_Del_p.W144fs	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTG	0.597													-	57860075	G	-	57860075	7	5	20	1	0	1	0	1	0	0	0	0	6437	1357	47	0	841	0	GLI1	12	57860075	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	185850	57860075	75991820	1302	18973											
GLI1	2735	broad.mit.edu	37	chr12	57864151	57864151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctctcttgaacgccgcaGcagcagctccagcagcatca	9	15	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:57864151G>A	uc001snx.2	+	12	1706	c.1628G>A	c.(1627-1629)AGC>AAC	p.S543N	GLI1_uc009zpq.2_Missense_Mutation_p.S415N	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	543					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			GAACGCCGCAGCAGCAGCTCC	0.612													A	57864151	G	A	57864151	3	1	20	1	0	0	0	0	1	0	0	0	6437	971	34	2	1670	2	GLI1	12	57864151	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	4076	57864151	75987744	1303	18974											
MBD6	114785	broad.mit.edu	37	chr12	57920920	57920920	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacctgtcccccctacttttCcccccactttcagccccccc	3	24	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:57920920C>T	uc001soj.1	+	7	2216	c.1992C>T	c.(1990-1992)TTC>TTT	p.F664F	MBD6_uc001sok.1_Silent_p.F531F|MBD6_uc001sol.1_RNA	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	664	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						CCCTACTTTTCCCCCCACTTT	0.647													T	57920920	C	T	57920920	2	4	20	1	0	0	0	0	0	0	0	1	9348	854	30	4		4	MBD6	12	57920920	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	56769	57920920	75930975	1304	18975											
MBD6	114785	broad.mit.edu	37	chr12	57922311	57922311	+	Frame_Shift_Del	DEL	C	C	-													gtgctgagcccaaggatccaCcccctcccgggccccattct							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:57922310_57922310AC>A	uc001soj.1	+	9	3011	c.2787_2787AC>A	c.(2785-2787)ccafs	p.P929fs	MBD6_uc001sok.1_Frame_Shift_Del_p.P797fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	929						chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCAAGGATCCACCCCCTCCCG	0.582													-	57922311	C	-	57922311	7	5	20	1	0	1	0	1	0	0	0	0	9348	507	18	0	2818	0	MBD6	12	57922311	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	1391	57922311	75929584	1305	18976											
TBK1	29110	broad.mit.edu	37	chr12	64878159	64878159	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaacttatctacgaagggCgacgcttagtcttagaacct	9	9	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:64878159C>T	uc001ssc.1	+	9	1131	c.1069C>T	c.(1069-1071)CGA>TGA	p.R357*		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	357	Ubiquitin-like.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5				GBM - Glioblastoma multiforme(28;0.0386)		CTACGAAGGGCGACGCTTAGT	0.373													T	64878159	C	T	64878159	4	4	20	1	0	0	0	0	0	1	0	0	15634	760	27	1	1099	1	TBK1	12	64878159	Nonsense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	6955848	64878159	68973736	1306	18977											
RASSF3	283349	broad.mit.edu	37	chr12	65088630	65088630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgcagaacctgaagaggCgctacacagcctacaggcag	12	12	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:65088630C>T	uc001ssd.2	+	5	775	c.655C>T	c.(655-657)CGC>TGC	p.R219C	RASSF3_uc009zqn.2_RNA|RASSF3_uc001sse.2_Missense_Mutation_p.R149C	NM_178169	NP_835463	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family	219	SARAH.				signal transduction	cytoplasm|microtubule	identical protein binding				0			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		CCTGAAGAGGCGCTACACAGC	0.562													T	65088630	C	T	65088630	3	4	20	1	0	0	0	0	1	0	0	0	13087	768	27	1	673	1	RASSF3	12	65088630	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	210471	65088630	68763265	1307	18978											
TMBIM4	51643	broad.mit.edu	37	chr12	66531769	66531769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attaactgcttccagaaaccGtaacaggtgcaggaatagat	9	8	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:66531769G>A	uc001stc.2	-	7	764	c.688C>T	c.(688-690)CGG>TGG	p.R230W	LLPH_uc010ssx.1_RNA|TMBIM4_uc001std.2_Missense_Mutation_p.R199W|TMBIM4_uc009zqr.2_Missense_Mutation_p.R277W|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_3'UTR|TMBIM4_uc009zqs.2_3'UTR	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	230						integral to membrane	protein binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(28;0.0745)		TCCAGAAACCGTAACAGGTGC	0.353													A	66531769	G	A	66531769	3	1	20	1	0	0	0	0	1	0	0	0	15979	1144	40	1	32	1	TMBIM4	12	66531769	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1443139	66531769	67320126	1308	18979											
GRIP1	23426	broad.mit.edu	37	chr12	66856867	66856867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatctcccacatgcaatgcGccacatctacggaaaggaga	9	12	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:66856867G>A	uc001stk.2	-	9	1120	c.879C>T	c.(877-879)GGC>GGT	p.G293G	GRIP1_uc010sta.1_Silent_p.G237G|GRIP1_uc001stj.2_Silent_p.G23G|GRIP1_uc001stl.1_Silent_p.G237G|GRIP1_uc001stm.2_Silent_p.G293G	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	293	PDZ 3.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CATGCAATGCGCCACATCTAC	0.468													A	66856867	G	A	66856867	2	1	20	1	0	0	0	0	0	0	0	1	6787	1074	38	1		1	GRIP1	12	66856867	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	325098	66856867	66995028	1309	18980											
GRIP1	23426	broad.mit.edu	37	chr12	66909462	66909462	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccacattgtttaagaatacTcatggcttcagcatgcgtag	8	9	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:66909462T>C	uc001stk.2	-	7	902	c.661A>G	c.(661-663)AGT>GGT	p.S221G	GRIP1_uc010sta.1_Missense_Mutation_p.S165G|GRIP1_uc001stl.1_Missense_Mutation_p.S165G|GRIP1_uc001stm.2_Missense_Mutation_p.S221G	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	221	PDZ 2.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TTAAGAATACTCATGGCTTCA	0.478													C	66909462	T	C	66909462	3	2	20	1	0	0	0	0	1	0	0	0	6787	1551	54	3	2641	3	GRIP1	12	66909462	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	52595	66909462	66942433	1310	18981											
CAND1	55832	broad.mit.edu	37	chr12	67696289	67696289	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaaggcagatgtttttcAcgcatacctttctcttttga	7	8	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:67696289A>G	uc001stn.2	+	8	1624	c.1187A>G	c.(1186-1188)CAC>CGC	p.H396R	CAND1_uc001sto.2_Missense_Mutation_p.H74R	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	396	HEAT 9.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GATGTTTTTCACGCATACCTT	0.423													G	67696289	A	G	67696289	3	3	20	1	0	0	0	0	1	0	0	0	2615	159	6	3	1217	3	CAND1	12	67696289	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	786827	67696289	66155606	1311	18982											
RAP1B	5908	broad.mit.edu	37	chr12	69042539	69042539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctagtcgttcttggctcagGaggcgttggaaagtctgctt	14	8	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:69042539G>A	uc001sub.2	+	2	198	c.35G>A	c.(34-36)CGA>CAA	p.R12Q	RAP1B_uc010ste.1_Intron|RAP1B_uc001suc.2_Missense_Mutation_p.G12E|RAP1B_uc010stf.1_Missense_Mutation_p.G12E|RAP1B_uc010stg.1_Missense_Mutation_p.G12E|RAP1B_uc010sth.1_Missense_Mutation_p.G12E|RAP1B_uc010sti.1_Missense_Mutation_p.G12E	NM_001089704	NP_001083173	P61224	RAP1B_HUMAN	SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family;	12	GTP.				blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding				0	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		CTTGGCTCAGGAGGCGTTGGA	0.363													A	69042539	G	A	69042539	3	1	20	1	0	0	0	0	1	0	0	0	13036	1174	41	4	37	4	RAP1B	12	69042539	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1346250	69042539	64809356	1312	18983											
YEATS4	8089	broad.mit.edu	37	chr12	69756672	69756672	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtggacagtatatgtgaaAccatatagaaatgaggtagg	12	4	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:69756672A>G	uc001sux.2	+	2	377	c.156A>G	c.(154-156)AAA>AAG	p.K52K		NM_006530	NP_006521	O95619	YETS4_HUMAN	glioma-amplified sequence-41	52	YEATS.				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton				0	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			TATATGTGAAACCATATAGAA	0.333													G	69756672	A	G	69756672	2	3	20	1	0	0	0	0	0	0	0	1	17470	40	2	3		3	YEATS4	12	69756672	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	714133	69756672	64095223	1313	18984											
FRS2	10818	broad.mit.edu	37	chr12	69968485	69968485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttaactttgatatcagacGcccaagtttagaacacaggc	7	10	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:69968485G>A	uc001suy.2	+	10	1787	c.1277G>A	c.(1276-1278)CGC>CAC	p.R426H	FRS2_uc001suz.2_Missense_Mutation_p.R426H|FRS2_uc009zrj.2_Missense_Mutation_p.R426H|FRS2_uc009zrk.2_Missense_Mutation_p.R426H	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	426					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			prostate(1)|kidney(1)	2	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GATATCAGACGCCCAAGTTTA	0.443													A	69968485	G	A	69968485	3	1	20	1	0	0	0	0	1	0	0	0	6061	1087	38	1	1295	1	FRS2	12	69968485	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	211813	69968485	63883410	1314	18985											
PTPRB	5787	broad.mit.edu	37	chr12	70964915	70964915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaatcgatactcggttgcGgtatttacaaggtgaaaagg	12	5	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:70964915G>A	uc001swb.3	-	11	2637	c.2607C>T	c.(2605-2607)ACC>ACT	p.T869T	PTPRB_uc010sto.1_Silent_p.T869T|PTPRB_uc010stp.1_Silent_p.T779T|PTPRB_uc001swc.3_Silent_p.T1087T|PTPRB_uc001swa.3_Silent_p.T999T|PTPRB_uc001swd.3_Silent_p.T1086T|PTPRB_uc009zrr.1_Silent_p.T966T	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	869	Fibronectin type-III 10.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACTCGGTTGCGGTATTTACAA	0.453													A	70964915	G	A	70964915	2	1	20	1	0	0	0	0	0	0	0	1	12796	1103	39	1		1	PTPRB	12	70964915	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	996430	70964915	62886980	1315	18986											
TRHDE	29953	broad.mit.edu	37	chr12	73046163	73046163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcactactggatgaggatGtctgggaattcatatggatg	13	5	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:73046163G>A	uc001sxa.2	+	16	2632	c.2602G>A	c.(2602-2604)GTC>ATC	p.V868I		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	868	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						GGATGAGGATGTCTGGGAATT	0.368													A	73046163	G	A	73046163	3	1	20	1	0	0	0	0	1	0	0	0	16476	1377	48	4	2664	4	TRHDE	12	73046163	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2081248	73046163	60805732	1316	18987											
OSBPL8	114882	broad.mit.edu	37	chr12	76784295	76784295	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgagtcatcttgtctttctgAtgtatctgtgtcactttctt	7	8	7	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:76784295A>T	uc001sye.1	-	11	1552	c.1072T>A	c.(1072-1074)TCA>ACA	p.S358T	OSBPL8_uc001syf.1_Missense_Mutation_p.S316T|OSBPL8_uc001syg.1_Missense_Mutation_p.S316T|OSBPL8_uc001syh.1_Missense_Mutation_p.S333T	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	358					lipid transport		lipid binding			ovary(1)	1						TGTCTTTCTGATGTATCTGTG	0.378													T	76784295	A	T	76784295	3	4	20	1	0	0	0	0	1	0	0	0	11283	333	12	5	1653	5	OSBPL8	12	76784295	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	3738132	76784295	57067600	1317	18988											
ATP2B1	490	broad.mit.edu	37	chr12	90028843	90028843	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatgacctgaccaccccTgatgacagtgaacttctgtt	8	12	1	6			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:90028843T>C	uc001tbh.2	-	3	773	c.592A>G	c.(592-594)AGG>GGG	p.R198G	ATP2B1_uc001tbg.2_Missense_Mutation_p.R198G	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	198	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						TGACCACCCCTGATGACAGTG	0.408													C	90028843	T	C	90028843	3	2	20	1	0	0	0	0	1	0	0	0	1139	1579	55	3	3300	3	ATP2B1	12	90028843	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	13244548	90028843	43823052	1318	18989											
EEA1	8411	broad.mit.edu	37	chr12	93206795	93206795	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcattttgagctgtgtccaaAtgattctgaagatcagctct	9	8	3	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:93206795A>T	uc001tck.2	-	16	2269	c.2004T>A	c.(2002-2004)CAT>CAA	p.H668Q		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	668	Gln/Glu/Lys-rich.|Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						CTGTGTCCAAATGATTCTGAA	0.348													T	93206795	A	T	93206795	3	4	20	1	0	0	0	0	1	0	0	0	4921	98	4	5	2287	5	EEA1	12	93206795	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	3177952	93206795	40645100	1319	18990											
PLXNC1	10154	broad.mit.edu	37	chr12	94642120	94642120	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagaaatcaagatcttaccAccatcctttgcaaaattaaa	3	10	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:94642120A>G	uc001tdc.2	+	14	2959	c.2710A>G	c.(2710-2712)ACC>GCC	p.T904A		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	904	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						AGATCTTACCACCATCCTTTG	0.388													G	94642120	A	G	94642120	3	3	20	1	0	0	0	0	1	0	0	0	12126	159	6	3	2764	3	PLXNC1	12	94642120	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1435325	94642120	39209775	1320	18991											
ANKS1B	56899	broad.mit.edu	37	chr12	100166822	100166822	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atccttttcttgacagagttTtatttcatccaagagttttg	6	7	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:100166822T>G	uc001tge.1	-	8	1423	c.1006A>C	c.(1006-1008)AAA>CAA	p.K336Q	ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.K302Q	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	336						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGACAGAGTTTTATTTCATCC	0.333													G	100166822	T	G	100166822	3	3	20	1	0	0	0	0	1	0	0	0	689	1850	64	5	3104	5	ANKS1B	12	100166822	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	5524702	100166822	33685073	1321	18992											
UTP20	27340	broad.mit.edu	37	chr12	101763573	101763573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatagaaacaaaagcagaGcagctgacaaaacacctctt	6	11	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:101763573G>A	uc001tia.1	+	49	6615	c.6459G>A	c.(6457-6459)GAG>GAA	p.E2153E		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2153					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						CAAAAGCAGAGCAGCTGACAA	0.488													A	101763573	G	A	101763573	2	1	20	1	0	0	0	0	0	0	0	1	17096	962	34	2		2	UTP20	12	101763573	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1596751	101763573	32088322	1322	18993											
UTP20	27340	broad.mit.edu	37	chr12	101767239	101767239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgcctatctctttgacacGttccctcaggtactgtgacc	7	14	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:101767239G>A	uc001tia.1	+	53	7095	c.6939G>A	c.(6937-6939)ACG>ACA	p.T2313T		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2313					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						TCTTTGACACGTTCCCTCAGG	0.498													A	101767239	G	A	101767239	2	1	20	1	0	0	0	0	0	0	0	1	17096	1132	40	1		1	UTP20	12	101767239	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3666	101767239	32084656	1323	18994											
MYBPC1	4604	broad.mit.edu	37	chr12	102025445	102025445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatggatggacctggccaGcaaagccgggaagcaccttc	12	11	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:102025445G>A	uc001tii.2	+	5	413	c.311G>A	c.(310-312)AGC>AAC	p.S104N	MYBPC1_uc001tif.1_Missense_Mutation_p.S117N|MYBPC1_uc001tig.2_Missense_Mutation_p.S129N|MYBPC1_uc010svq.1_Missense_Mutation_p.S91N|MYBPC1_uc001tih.2_Missense_Mutation_p.S129N|MYBPC1_uc001tij.2_Missense_Mutation_p.S104N|MYBPC1_uc010svr.1_Missense_Mutation_p.S104N|MYBPC1_uc010svs.1_Missense_Mutation_p.S104N|MYBPC1_uc010svt.1_Missense_Mutation_p.S92N|MYBPC1_uc010svu.1_Missense_Mutation_p.S104N|MYBPC1_uc001tik.2_Missense_Mutation_p.S78N	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	104	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						GACCTGGCCAGCAAAGCCGGG	0.507													A	102025445	G	A	102025445	3	1	20	1	0	0	0	0	1	0	0	0	10011	971	34	2	412	2	MYBPC1	12	102025445	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	258206	102025445	31826450	1324	18995											
PAH	5053	broad.mit.edu	37	chr12	103288514	103288514	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattcctctaattcttaccTgtgtctttcttcttatctcg	3	11	6	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:103288514T>G	uc001tjq.1	-	4	823	c.351A>C	c.(349-351)ACA>ACC	p.T117T	PAH_uc010swc.1_Silent_p.T117T	NM_000277	NP_000268	P00439	PH4H_HUMAN	phenylalanine hydroxylase	117					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AATTCTTACCTGTGTCTTTCT	0.348													G	103288514	T	G	103288514	2	3	20	1	0	0	0	0	0	0	0	1	11394	1594	55	5		5	PAH	12	103288514	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1263069	103288514	30563381	1325	18996											
STAB2	55576	broad.mit.edu	37	chr12	103981261	103981261	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaatatttcctcatgatgCtacaacatttagtaattttt	4	7	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:103981261C>T	uc001tjw.2	+	1	193	c.7C>T	c.(7-9)CTA>TTA	p.L3L		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	3					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CCTCATGATGCTACAACATTT	0.383													T	103981261	C	T	103981261	2	4	20	1	0	0	0	0	0	0	0	1	15237	796	28	2		2	STAB2	12	103981261	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	692747	103981261	29870634	1326	18997											
STAB2	55576	broad.mit.edu	37	chr12	104063344	104063344	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgctgcaaaggcttctAtggacctgactgcaaccagt	10	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:104063344A>G	uc001tjw.2	+	21	2384	c.2198A>G	c.(2197-2199)TAT>TGT	p.Y733C		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	733	Extracellular (Potential).				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						AAAGGCTTCTATGGACCTGAC	0.448													G	104063344	A	G	104063344	3	3	20	1	0	0	0	0	1	0	0	0	15237	449	16	3	2280	3	STAB2	12	104063344	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	82083	104063344	29788551	1327	18998											
CORO1C	23603	broad.mit.edu	37	chr12	109042423	109042423	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttggggatgctgatcagGtcgcacttcttgtttgcagt	12	8	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:109042423G>A	uc001tnj.2	-	10	1359	c.1263C>T	c.(1261-1263)GAC>GAT	p.D421D	CORO1C_uc009zva.2_Silent_p.D474D|CORO1C_uc010sxf.1_Silent_p.D384D	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C isoform 1	421					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			skin(3)	3						TGCTGATCAGGTCGCACTTCT	0.517													A	109042423	G	A	109042423	2	1	20	1	0	0	0	0	0	0	0	1	3755	1252	44	4		4	CORO1C	12	109042423	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	4979079	109042423	24809472	1328	18999											
ACACB	32	broad.mit.edu	37	chr12	109702967	109702967	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgtattggcgtctgcgccGcctcctcctggaggaccagg	13	15	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:109702967G>T	uc001tob.2	+	51	7114	c.6995G>T	c.(6994-6996)CGC>CTC	p.R2332L	ACACB_uc001toc.2_Missense_Mutation_p.R2332L|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.R998L	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	2332					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	CGTCTGCGCCGCCTCCTCCTG	0.627													T	109702967	G	T	109702967	3	4	20	1	0	0	0	0	1	0	0	0	107	1087	38	5	7193	5	ACACB	12	109702967	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	660544	109702967	24148928	1329	19000											
MYO1H	283446	broad.mit.edu	37	chr12	109826650	109826650	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcgagaacctcatatacGtaacgtgacccacttctcag	7	13	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:109826650G>A	uc010sxn.1	+	1	126	c.126_splice	c.e1+1	p.Y42_splice		NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN	myosin 1H							myosin complex	motor activity				0						CCTCATATACGTAACGTGACC	0.478													A	109826650	G	A	109826650	5	1	20	1	0	0	0	0	0	0	1	0	10075	1159	40	1	129	1	MYO1H	12	109826650	Splice_Site	SNP	G	TCGA-BR-4362-01A-01D-1158-08	123683	109826650	24025245	1330	19001											
KCTD10	83892	broad.mit.edu	37	chr12	109889420	109889420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactggtggaggtgggcccGgtcatcagggcgcttgatgt	17	9	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:109889420G>A	uc001toi.1	-	7	1010	c.922C>T	c.(922-924)CGG>TGG	p.R308W	KCTD10_uc001toh.1_RNA|KCTD10_uc009zvi.1_Missense_Mutation_p.R282W|KCTD10_uc001toj.1_Missense_Mutation_p.R317W|KCTD10_uc001tok.1_Missense_Mutation_p.R127W	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	potassium channel tetramerisation domain	308					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity				0						AGGTGGGCCCGGTCATCAGGG	0.711													A	109889420	G	A	109889420	3	1	20	1	0	0	0	0	1	0	0	0	8097	1115	39	1	23	1	KCTD10	12	109889420	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	62770	109889420	23962475	1331	19002											
KCTD10	83892	broad.mit.edu	37	chr12	109889456	109889456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtggatcctccgcacgcGctcgatccgctcccgctcct	10	18	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:109889456G>A	uc001toi.1	-	7	974	c.886C>T	c.(886-888)CGC>TGC	p.R296C	KCTD10_uc001toh.1_RNA|KCTD10_uc009zvi.1_Missense_Mutation_p.R270C|KCTD10_uc001toj.1_Missense_Mutation_p.R305C|KCTD10_uc001tok.1_Missense_Mutation_p.R115C	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	potassium channel tetramerisation domain	296					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity				0						CTCCGCACGCGCTCGATCCGC	0.716													A	109889456	G	A	109889456	3	1	20	1	0	0	0	0	1	0	0	0	8097	1087	38	1	59	1	KCTD10	12	109889456	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	36	109889456	23962439	1332	19003											
ATP2A2	488	broad.mit.edu	37	chr12	110734412	110734412	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttttatacaggaaagaaaTgctgaaaatgccatcgaagc	8	7	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:110734412T>C	uc001tqk.3	+	5	896	c.333T>C	c.(331-333)AAT>AAC	p.N111N	ATP2A2_uc001tql.3_Silent_p.N111N|ATP2A2_uc010sxy.1_Silent_p.N111N	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	111	Cytoplasmic (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)|skin(1)	4						AGGAAAGAAATGCTGAAAATG	0.388													C	110734412	T	C	110734412	2	2	20	1	0	0	0	0	0	0	0	1	1137	1461	51	3		3	ATP2A2	12	110734412	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	844956	110734412	23117483	1333	19004											
BRAP	8315	broad.mit.edu	37	chr12	112116963	112116963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aataacttttacctgtgcacGaaactttatcagcaccatat	4	10	1	0	rs76800978	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:112116963G>A	uc001tsn.3	-	4	819	c.625C>T	c.(625-627)CGT>TGT	p.R209C	BRAP_uc010syh.1_Missense_Mutation_p.R68C|BRAP_uc009zvv.2_Missense_Mutation_p.R179C	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	209					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			lung(1)	1						ACCTGTGCACGAAACTTTATC	0.328													A	112116963	G	A	112116963	3	1	20	1	0	0	0	0	1	0	0	0	1497	1058	37	1	1189	1	BRAP	12	112116963	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1382551	112116963	21734932	1334	19005											
SLC24A6	80024	broad.mit.edu	37	chr12	113756814	113756814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagatcctctccgttgccGttggtagatccaggtgcaga	12	11	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:113756814G>A	uc001tvc.2	-	8	967	c.757C>T	c.(757-759)CGG>TGG	p.R253W	SLC24A6_uc001tuz.2_Translation_Start_Site|SLC24A6_uc001tva.2_RNA|SLC24A6_uc001tvb.2_Translation_Start_Site	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	solute carrier family 24 member 6 precursor	253	Cytoplasmic (Potential).				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			central_nervous_system(1)	1						CTCCGTTGCCGTTGGTAGATC	0.577													A	113756814	G	A	113756814	3	1	20	1	0	0	0	0	1	0	0	0	14470	1144	40	1	1033	1	SLC24A6	12	113756814	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1639851	113756814	20095081	1335	19006											
FBXO21	23014	broad.mit.edu	37	chr12	117627076	117627076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgaggctacaatcttccGcgcttctaacccagcttttt	7	13	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:117627076G>A	uc001twk.2	-	2	370	c.331C>T	c.(331-333)CGG>TGG	p.R111W	FBXO21_uc001twj.2_Missense_Mutation_p.R111W|FBXO21_uc009zwq.2_Missense_Mutation_p.R111W	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	111					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		ACAATCTTCCGCGCTTCTAAC	0.483													A	117627076	G	A	117627076	3	1	20	1	0	0	0	0	1	0	0	0	5733	1086	38	1	1599	1	FBXO21	12	117627076	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3870262	117627076	16224819	1336	19007											
VSIG10	54621	broad.mit.edu	37	chr12	118511707	118511707	+	Frame_Shift_Del	DEL	G	G	-													tcagccacaggatcttggcaGgggggtaggccccagacacc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:118511706_118511706AG>A	uc001tws.3	-	4	1351	c.1017_1017CT>T	c.(1015-1017)cctfs	p.P339fs		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	339	Ig-like C2-type 4.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GGATCTTGGCAGGGGGGTAGG	0.597													-	118511707	G	-	118511707	7	5	20	1	0	1	0	1	0	0	0	0	17220	1000	35	0	626	0	VSIG10	12	118511707	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	884631	118511707	15340188	1337	19008											
SRRM4	84530	broad.mit.edu	37	chr12	119419710	119419710	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgagcgttcagcaaggcgAgaagcagctttttgagaagt	15	7	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:119419710A>G	uc001txa.1	+	1	315	c.23A>G	c.(22-24)GAG>GGG	p.E8G		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	8					cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						CAGCAAGGCGAGAAGCAGCTT	0.632													G	119419710	A	G	119419710	3	3	20	1	0	0	0	0	1	0	0	0	15170	304	11	3	25	3	SRRM4	12	119419710	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	908003	119419710	14432185	1338	19009											
CCDC64	92558	broad.mit.edu	37	chr12	120510351	120510351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggaagcctactgccaggttCgctatctgtgctcacacctt	10	13	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:120510351C>T	uc001txl.1	+	6	1151	c.1126C>T	c.(1126-1128)CGC>TGC	p.R376C	CCDC64_uc001txk.2_Missense_Mutation_p.R376C|CCDC64_uc009zwv.1_Intron|CCDC64_uc010sze.1_Intron|CCDC64_uc010szf.1_Missense_Mutation_p.R25C	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	376	Potential.				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			ovary(2)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGCCAGGTTCGCTATCTGTG	0.522													T	120510351	C	T	120510351	3	4	20	1	0	0	0	0	1	0	0	0	2835	884	31	1	1148	1	CCDC64	12	120510351	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1090641	120510351	13341544	1339	19010											
MSI1	4440	broad.mit.edu	37	chr12	120800903	120800904	+	Frame_Shift_Ins	INS	-	-	C													ccgtggtgttcaccgacagcINSccccccacaaagatcttctt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:120800902_120800903G>GC	uc001tye.1	-	5	409_410	c.345_346C>GC	c.(343-348)gggctgfs	p.G115fs		NM_002442	NP_002433	O43347	MSI1H_HUMAN	Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA.	115	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564													C	120800904	-	C	120800903	7	5	20	1	0	1	1	0	0	0	0	0	9875	726	26	0	779	0	MSI1	12	120800903	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	290552	120800903	13050992	1340	19011											
MLEC	9761	broad.mit.edu	37	chr12	121132904	121132904	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccttttcctaggggtacTatgacaatcccaaggtctgt	8	11	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:121132904T>C	uc001tyy.1	+	4	749	c.598T>C	c.(598-600)TAT>CAT	p.Y200H		NM_014730	NP_055545	Q14165	MLEC_HUMAN	malectin precursor	200	Lumenal (Potential).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			ovary(1)	1						CTAGGGGTACTATGACAATCC	0.493													C	121132904	T	C	121132904	3	2	20	1	0	0	0	0	1	0	0	0	9613	1522	53	3	612	3	MLEC	12	121132904	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	332001	121132904	12718991	1341	19012											
CAMKK2	10645	broad.mit.edu	37	chr12	121678610	121678610	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggactgcctctcacaagagcActtcctcctcccccacgggg	9	18	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:121678610A>G	uc001tzu.2	-	17	1783	c.1659T>C	c.(1657-1659)AGT>AGC	p.S553S	CAMKK2_uc001tzt.2_Missense_Mutation_p.V539A|CAMKK2_uc001tzv.2_Silent_p.S553S|CAMKK2_uc001tzw.2_Silent_p.S510S|CAMKK2_uc001tzx.2_Missense_Mutation_p.V539A|CAMKK2_uc001tzy.2_Missense_Mutation_p.V496A|CAMKK2_uc001tzz.1_Intron|CAMKK2_uc001uaa.1_Intron	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase	553					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			lung(1)|large_intestine(1)|stomach(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCACAAGAGCACTTCCTCCTC	0.652													G	121678610	A	G	121678610	2	3	20	1	0	0	0	0	0	0	0	1	2607	159	6	3		3	CAMKK2	12	121678610	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	545706	121678610	12173285	1342	19013											
RNF34	80196	broad.mit.edu	37	chr12	121855521	121855521	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagacttggtggatctagTactgtgccatcatggactag	12	7	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:121855521T>C	uc001ual.1	+	3	554	c.440T>C	c.(439-441)GTA>GCA	p.V147A	RNF34_uc010szw.1_Missense_Mutation_p.V148A|RNF34_uc001uak.1_Missense_Mutation_p.V148A|RNF34_uc001uam.1_Missense_Mutation_p.V147A	NM_025126	NP_079402	Q969K3	RNF34_HUMAN	ring finger protein 34 isoform 2	147					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		GTGGATCTAGTACTGTGCCAT	0.443													C	121855521	T	C	121855521	3	2	20	1	0	0	0	0	1	0	0	0	13489	1638	57	3	463	3	RNF34	12	121855521	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	176911	121855521	11996374	1343	19014											
CLIP1	6249	broad.mit.edu	37	chr12	122826190	122826190	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctacttcctgtactctcaAtgctaggtctttctccagtt	6	12	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:122826190A>G	uc001ucg.1	-	10	1667	c.1561T>C	c.(1561-1563)TTG>CTG	p.L521L	CLIP1_uc001uch.1_Silent_p.L510L|CLIP1_uc001uci.1_Silent_p.L475L|CLIP1_uc001ucj.1_Silent_p.L211L|CLIP1_uc009zxo.1_Silent_p.L77L	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	521	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TGTACTCTCAATGCTAGGTCT	0.418													G	122826190	A	G	122826190	2	3	20	1	0	0	0	0	0	0	0	1	3532	98	4	3		3	CLIP1	12	122826190	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	970669	122826190	11025705	1344	19015											
KNTC1	9735	broad.mit.edu	37	chr12	123060120	123060120	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgccgtgctcaagatcatgTatgcggcagtggttccttgg	13	9	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:123060120T>C	uc001ucv.2	+	28	2576	c.2413T>C	c.(2413-2415)TAT>CAT	p.Y805H	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	805					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CAAGATCATGTATGCGGCAGT	0.483													C	123060120	T	C	123060120	3	2	20	1	0	0	0	0	1	0	0	0	8428	1638	57	3	2519	3	KNTC1	12	123060120	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	233930	123060120	10791775	1345	19016											
HIP1R	9026	broad.mit.edu	37	chr12	123334461	123334461	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acggacagctggtgaatgtcTacaccaagctgctgctgacc	11	12	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:123334461T>G	uc001udj.1	+	5	456	c.397T>G	c.(397-399)TAC>GAC	p.Y133D	HIP1R_uc001udg.1_Missense_Mutation_p.Y121D|HIP1R_uc001udi.1_Missense_Mutation_p.Y133D|HIP1R_uc001udh.2_Missense_Mutation_p.Y133D	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	133	ENTH.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GGTGAATGTCTACACCAAGCT	0.582													G	123334461	T	G	123334461	3	3	20	1	0	0	0	0	1	0	0	0	7115	1522	53	5	415	5	HIP1R	12	123334461	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	274341	123334461	10517434	1346	19017											
EIF2B1	1967	broad.mit.edu	37	chr12	124111688	124111688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaccactctggagtaggCgtgagtcaatattgtctgtg	13	8	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:124111688C>T	uc001ufm.2	-	5	528	c.385G>A	c.(385-387)GCC>ACC	p.A129T	EIF2B1_uc001ufn.2_Missense_Mutation_p.A129T|EIF2B1_uc010tat.1_Missense_Mutation_p.A129T	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B,	129					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		CTGGAGTAGGCGTGAGTCAAT	0.557													T	124111688	C	T	124111688	3	4	20	1	0	0	0	0	1	0	0	0	5000	768	27	1	552	1	EIF2B1	12	124111688	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	777227	124111688	9740207	1347	19018											
DNAH10	196385	broad.mit.edu	37	chr12	124409638	124409638	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcagtttcccgtccccttGggttacgataacaacatcac	8	13	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:124409638G>T	uc001uft.3	+	67	11479	c.11454G>T	c.(11452-11454)TTG>TTT	p.L3818F	DNAH10_uc001ufu.3_5'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3818	TPR 4.				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCGTCCCCTTGGGTTACGATA	0.473													T	124409638	G	T	124409638	3	4	20	1	0	0	0	0	1	0	0	0	4598	1339	47	5	11720	5	DNAH10	12	124409638	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	297950	124409638	9442257	1348	19019											
DNAH10	196385	broad.mit.edu	37	chr12	124419276	124419276	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggacctgccgatcctgaAgatcatccccattgaagccc	9	14	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:124419276A>C	uc001uft.3	+	77	13257	c.13232A>C	c.(13231-13233)AAG>ACG	p.K4411T	DNAH10_uc001ufu.3_Missense_Mutation_p.K324T	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4411					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCGATCCTGAAGATCATCCCC	0.537													C	124419276	A	C	124419276	3	2	20	1	0	0	0	0	1	0	0	0	4598	72	3	5	13538	5	DNAH10	12	124419276	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	9638	124419276	9432619	1349	19020											
NCOR2	9612	broad.mit.edu	37	chr12	124915170	124915170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccgctcacctctgcatgCgctcctgcagctcgcgctgc	10	20	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:124915170C>T	uc010tba.1	-	9	1163	c.1046G>A	c.(1045-1047)CGC>CAC	p.R349H	NCOR2_uc010tay.1_Missense_Mutation_p.R349H|NCOR2_uc010taz.1_Missense_Mutation_p.R349H|NCOR2_uc010tbb.1_Missense_Mutation_p.R349H|NCOR2_uc010tbc.1_Missense_Mutation_p.R349H|NCOR2_uc001ugj.1_Missense_Mutation_p.R349H|NCOR2_uc001ugk.1_Missense_Mutation_p.R349H	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	349					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCTCTGCATGCGCTCCTGCAG	0.662													T	124915170	C	T	124915170	3	4	20	1	0	0	0	0	1	0	0	0	10236	768	27	1	6678	1	NCOR2	12	124915170	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	495894	124915170	8936725	1350	19021											
NCOR2	9612	broad.mit.edu	37	chr12	124968140	124968140	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgggggcccaggcttAccttggtgaggtcttcagat	14	11	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:124968140A>G	uc010tba.1	-	3	528	c.411_splice	c.e3+1	p.K137_splice	NCOR2_uc010tay.1_Splice_Site_p.K137_splice|NCOR2_uc010taz.1_Splice_Site_p.K137_splice|NCOR2_uc010tbb.1_Splice_Site_p.K137_splice|NCOR2_uc010tbc.1_Splice_Site_p.K137_splice|NCOR2_uc001ugj.1_Splice_Site_p.K137_splice|NCOR2_uc001ugk.1_Splice_Site_p.K137_splice|uc001ugl.2_5'Flank	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2						cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCCCAGGCTTACCTTGGTGAG	0.692													G	124968140	A	G	124968140	5	3	20	1	0	0	0	0	0	0	1	0	10236	405	14	3	7335	3	NCOR2	12	124968140	Splice_Site	SNP	A	TCGA-BR-4362-01A-01D-1158-08	52970	124968140	8883755	1351	19022											
UBC	7316	broad.mit.edu	37	chr12	125397600	125397600	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgacctcaagggtgatggTcttgccagtgagtgtcttca	12	10	4	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:125397600T>C	uc001ugs.3	-	2	1166	c.718A>G	c.(718-720)ACC>GCC	p.T240A	UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Missense_Mutation_p.T240A|UBC_uc001ugt.2_Missense_Mutation_p.T240A|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Missense_Mutation_p.T88A	NM_021009	NP_066289	P0CG48	UBC_HUMAN	ubiquitin C	240	Ubiquitin-like 4.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AGGGTGATGGTCTTGCCAGTG	0.507													C	125397600	T	C	125397600	3	2	20	1	0	0	0	0	1	0	0	0	16839	1667	58	3	1343	3	UBC	12	125397600	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	429460	125397600	8454295	1352	19023											
EP400	57634	broad.mit.edu	37	chr12	132491389	132491389	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgggtaaaacagtgcagatcAttgctttttttgcccaccta	8	9	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:132491389A>T	uc001ujn.2	+	14	3306	c.3271A>T	c.(3271-3273)ATT>TTT	p.I1091F	EP400_uc001ujl.2_Missense_Mutation_p.I1090F|EP400_uc001ujm.2_Missense_Mutation_p.I1091F	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1127	Interactions with RUVBL1 and RUVBL2.|Helicase ATP-binding.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGTGCAGATCATTGCTTTTTT	0.423													T	132491389	A	T	132491389	3	4	20	1	0	0	0	0	1	0	0	0	5149	217	8	5	3322	5	EP400	12	132491389	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	7093789	132491389	1360506	1353	19024											
P2RX2	22953	broad.mit.edu	37	chr12	133197136	133197136	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggctttatcgtggagaaGgctggggagagcttcacaga	16	7	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:133197136G>T	uc001ukj.1	+	7	741	c.741G>T	c.(739-741)AAG>AAT	p.K247N	P2RX2_uc001uki.1_Missense_Mutation_p.K247N|P2RX2_uc001ukk.1_Missense_Mutation_p.K247N|P2RX2_uc001ukl.1_Missense_Mutation_p.K223N|P2RX2_uc001ukm.1_Missense_Mutation_p.K175N|P2RX2_uc001ukn.1_Missense_Mutation_p.K155N|P2RX2_uc009zyt.1_Missense_Mutation_p.K247N|P2RX2_uc001uko.1_Missense_Mutation_p.G212C	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X2 isoform A	247	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		TCGTGGAGAAGGCTGGGGAGA	0.647													T	133197136	G	T	133197136	3	4	20	1	0	0	0	0	1	0	0	0	11340	991	35	5	767	5	P2RX2	12	133197136	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	705747	133197136	654759	1354	19025											
POLE	5426	broad.mit.edu	37	chr12	133254211	133254211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggatgtggtagggaacatCgtactcgcgcatgtccacaa	13	10	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:133254211C>T	uc001uks.1	-	7	717	c.673G>A	c.(673-675)GAT>AAT	p.D225N	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.D198N	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	225					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TAGGGAACATCGTACTCGCGC	0.522								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	133254211	C	T	133254211	3	4	20	1	0	0	0	0	1	0	0	0	12196	884	31	1	6359	1	POLE	12	133254211	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	57075	133254211	597684	1355	19026											
PXMP2	5827	broad.mit.edu	37	chr12	133266939	133266939	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagtctggatgtcggtggGcctctgagatatgccgttta	14	7	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:133266939G>T	uc001ukt.2	+	2	278	c.213G>T	c.(211-213)GGG>GGT	p.G71G	POLE_uc001uks.1_5'Flank|POLE_uc010tbq.1_5'Flank|POLE_uc009zyu.1_5'Flank|PGAM5_uc010tbr.1_RNA	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	71	Peroxisomal (Potential).					integral to membrane|peroxisomal membrane	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		ATGTCGGTGGGCCTCTGAGAT	0.512													T	133266939	G	T	133266939	2	4	20	1	0	0	0	0	0	0	0	1	12850	1190	42	5		5	PXMP2	12	133266939	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	12728	133266939	584956	1356	19027											
ZMYM2	7750	broad.mit.edu	37	chr13	20638643	20638643	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttattaccacctgtttttggCgaagaatatgaggaacagcc	9	8	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:20638643C>T	uc001umr.2	+	20	3388	c.3090C>T	c.(3088-3090)GGC>GGT	p.G1030G	ZMYM2_uc001ums.2_Silent_p.G1030G|ZMYM2_uc001umt.2_Silent_p.G1030G|ZMYM2_uc001umv.2_Silent_p.G410G|ZMYM2_uc001umw.2_Silent_p.G483G	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	1030					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CTGTTTTTGGCGAAGAATATG	0.348													T	20638643	C	T	20638643	2	4	20	1	0	0	0	0	0	0	0	1	17697	755	27	1		1	ZMYM2	13	20638643	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08		20638643	94531235	1357	19028											
LATS2	26524	broad.mit.edu	37	chr13	21563416	21563416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgaagctgggcctccgcGtcactggggttggcatgagc	15	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:21563416G>A	uc009zzs.2	-	4	868	c.503C>T	c.(502-504)ACG>ATG	p.T168M	LATS2_uc001unr.3_Missense_Mutation_p.T168M	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	168					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGGCCTCCGCGTCACTGGGGT	0.617													A	21563416	G	A	21563416	3	1	20	1	0	0	0	0	1	0	0	0	8647	1145	40	1	2783	1	LATS2	13	21563416	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	924773	21563416	93606462	1358	19029											
SGCG	6445	broad.mit.edu	37	chr13	23853606	23853606	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggttggtacagataaacTtcgagtaactggtatgtact	11	5	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:23853606T>G	uc001uom.2	+	5	649	c.494T>G	c.(493-495)CTT>CGT	p.L165R	SGCG_uc009zzv.2_Missense_Mutation_p.L165R|SGCG_uc009zzw.2_Missense_Mutation_p.L165R	NM_000231	NP_000222	Q13326	SGCG_HUMAN	gamma sarcoglycan	165	Extracellular (Potential).				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma					0		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		ACAGATAAACTTCGAGTAACT	0.388													G	23853606	T	G	23853606	3	3	20	1	0	0	0	0	1	0	0	0	14203	1609	56	5	508	5	SGCG	13	23853606	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2290190	23853606	91316272	1359	19030											
SACS	26278	broad.mit.edu	37	chr13	23912055	23912055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaatcttacgttcttcatgGaaacccaagtagatccatca	6	10	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:23912055G>A	uc001uon.2	-	10	6549	c.5960C>T	c.(5959-5961)TCC>TTC	p.S1987F	SACS_uc001uoo.2_Missense_Mutation_p.S1840F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1987					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTTCTTCATGGAAACCCAAGT	0.363													A	23912055	G	A	23912055	3	1	20	1	0	0	0	0	1	0	0	0	13804	1174	41	4	7783	4	SACS	13	23912055	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	58449	23912055	91257823	1360	19031											
SACS	26278	broad.mit.edu	37	chr13	23929676	23929676	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttggagtctttttacaatAgttacttatagcagttccca	7	8	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:23929676A>G	uc001uon.2	-	8	1664	c.1075T>C	c.(1075-1077)TAT>CAT	p.Y359H	SACS_uc001uoo.2_Missense_Mutation_p.Y212H|SACS_uc001uop.1_Missense_Mutation_p.Y146H|SACS_uc001uoq.1_Missense_Mutation_p.Y212H	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	359					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTTTTACAATAGTTACTTATA	0.378													G	23929676	A	G	23929676	3	3	20	1	0	0	0	0	1	0	0	0	13804	420	15	3	12676	3	SACS	13	23929676	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	17621	23929676	91240202	1361	19032											
RNF17	56163	broad.mit.edu	37	chr13	25367423	25367423	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctaaaaccattgctgtgttAcctcagatgggatctagccc	8	12	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:25367423A>G	uc001upr.2	+	10	1220	c.1179A>G	c.(1177-1179)TTA>TTG	p.L393L	RNF17_uc010tdd.1_Silent_p.L252L|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.L393L|RNF17_uc001ups.2_Silent_p.L332L|RNF17_uc001upq.1_Silent_p.L393L	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	393					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTGCTGTGTTACCTCAGATGG	0.393													G	25367423	A	G	25367423	2	3	20	1	0	0	0	0	0	0	0	1	13461	388	14	3		3	RNF17	13	25367423	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1437747	25367423	89802455	1362	19033											
NUPL1	9818	broad.mit.edu	37	chr13	25887102	25887102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatctgccacaccatttgCtctacctattacctctacct	3	16	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:25887102C>T	uc001uqi.2	+	4	614	c.368C>T	c.(367-369)GCT>GTT	p.A123V	NUPL1_uc001uqg.1_Missense_Mutation_p.A123V|NUPL1_uc001uqj.2_Missense_Mutation_p.A111V	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1 isoform a	123	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore					0		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		ACACCATTTGCTCTACCTATT	0.433													T	25887102	C	T	25887102	3	4	20	1	0	0	0	0	1	0	0	0	10774	797	28	2	382	2	NUPL1	13	25887102	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	519679	25887102	89282776	1363	19034											
BRCA2	675	broad.mit.edu	37	chr13	32910761	32910762	+	Frame_Shift_Del	DEL	AA	AA	-													atactgactttcaatcccagAaaagtcttttatatgatcat							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:32910760_32910761GAA>G	uc001uub.1	+	10	2495_2496	c.2268_2269GAA>G	c.(2266-2271)cagaaafs	p.Q756fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	756	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTCAATCCCAGAAAAGTCTTTT	0.371			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			-	32910762	AA	-	32910761	7	5	20	1	0	1	0	1	0	0	0	0	1499	247	9	0	2307	0	BRCA2	13	32910761	Frame_Shift_Del	DEL	AA	TCGA-BR-4362-01A-01D-1158-08	7023659	32910761	82259117	1364	19035											
BRCA2	675	broad.mit.edu	37	chr13	32913117	32913117	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaatctttggacaaagTgaaaaacctttttgatgaaa	8	4	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:32913117T>C	uc001uub.1	+	11	4852	c.4625T>C	c.(4624-4626)GTG>GCG	p.V1542A		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1542	BRCA2 4.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTGGACAAAGTGAAAAACCTT	0.388			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			C	32913117	T	C	32913117	3	2	20	1	0	0	0	0	1	0	0	0	1499	1696	59	3	4663	3	BRCA2	13	32913117	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2356	32913117	82256761	1365	19036											
KL	9365	broad.mit.edu	37	chr13	33628375	33628375	+	Missense_Mutation	SNP	A	A	G													agagagatgatgccaaatatAtgtattacctcaaaaagttc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:33628375A>G	uc001uus.2	+	2	1299	c.1291A>G	c.(1291-1293)ATG>GTG	p.M431V	KL_uc001uur.1_Missense_Mutation_p.M124V	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	431	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TGCCAAATATATGTATTACCT	0.363													G	33628375	A	G	33628375	3	3	20	1	0	0	0	0	1	0	0	0	8331	449	16	3	1297	3	KL	13	33628375	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	715258	33628375	81541503	1366	19037	65	2									
KL	9365	broad.mit.edu	37	chr13	33628382	33628382	+	Missense_Mutation	SNP	A	A	G													tgatgccaaatatatgtattAcctcaaaaagttcatcatgg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:33628382A>G	uc001uus.2	+	2	1306	c.1298A>G	c.(1297-1299)TAC>TGC	p.Y433C	KL_uc001uur.1_Missense_Mutation_p.Y126C	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	433	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TATATGTATTACCTCAAAAAG	0.348													G	33628382	A	G	33628382	3	3	20	1	0	0	0	0	1	0	0	0	8331	391	14	3	1304	3	KL	13	33628382	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	7	33628382	81541496	1367	19038	65	2									
STARD13	90627	broad.mit.edu	37	chr13	33703571	33703571	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctactatctgtgggagagaGgctttcaatagaaagtgcct	12	7	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:33703571G>T	uc001uuw.2	-	5	1369	c.1243C>A	c.(1243-1245)CTC>ATC	p.L415I	STARD13_uc001uuu.2_Missense_Mutation_p.L407I|STARD13_uc001uuv.2_Missense_Mutation_p.L297I|STARD13_uc001uux.2_Missense_Mutation_p.L380I|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.L400I	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	415					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GTGGGAGAGAGGCTTTCAATA	0.527													T	33703571	G	T	33703571	3	4	20	1	0	0	0	0	1	0	0	0	15255	1000	35	5	2138	5	STARD13	13	33703571	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	75189	33703571	81466307	1368	19039											
DCLK1	9201	broad.mit.edu	37	chr13	36686055	36686055	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccactcccgagtccagcTtgatggcatcggtgatatcg	10	13	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:36686055T>G	uc001uvf.2	-	3	907	c.674A>C	c.(673-675)AAG>ACG	p.K225T		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	225	Doublecortin 2.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CGAGTCCAGCTTGATGGCATC	0.498													G	36686055	T	G	36686055	3	3	20	1	0	0	0	0	1	0	0	0	4291	1609	56	5	1579	5	DCLK1	13	36686055	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2982484	36686055	78483823	1369	19040											
SPG20	23111	broad.mit.edu	37	chr13	36909272	36909272	+	Frame_Shift_Del	DEL	A	A	-													acctcccctgcaggatttacAaaaaaaatctgtactccatt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:36909271_36909271CA>C	uc001uvn.3	-	2	967	c.697_697TG>G	c.(697-699)gtafs	p.V233fs	SPG20_uc010ten.2_Frame_Shift_Del_p.V233fs|SPG20_uc001uvm.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvo.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvq.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvp.2_Frame_Shift_Del_p.V233fs	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	233					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		GCAGGATTTACAAAAAAAATC	0.438													-	36909272	A	-	36909272	7	5	20	1	0	1	0	1	0	0	0	0	15041	127	5	0	1336	0	SPG20	13	36909272	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	223217	36909272	78260606	1370	19041											
FAM48A	55578	broad.mit.edu	37	chr13	37607598	37607598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaattaccgtttcattgggCgagtgttcatcttttgcttg	10	8	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:37607598C>T	uc001uwg.2	-	10	943	c.695G>A	c.(694-696)CGC>CAC	p.R232H	FAM48A_uc010abt.2_Missense_Mutation_p.R233H|FAM48A_uc001uwh.2_Missense_Mutation_p.R233H|FAM48A_uc001uwi.2_Missense_Mutation_p.R232H|FAM48A_uc001uwj.2_Missense_Mutation_p.R233H|FAM48A_uc001uwk.2_Missense_Mutation_p.R232H|FAM48A_uc010tes.1_Missense_Mutation_p.R220H|FAM48A_uc001uwl.1_Missense_Mutation_p.R232H	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	232					autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		TTTCATTGGGCGAGTGTTCAT	0.423													T	37607598	C	T	37607598	3	4	20	1	0	0	0	0	1	0	0	0	5572	768	27	1	1712	1	FAM48A	13	37607598	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	698326	37607598	77562280	1371	19042											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37679145	37679145	+	Frame_Shift_Del	DEL	T	T	-													atgactagcacattgttgtcTttttcctgaccataccagtg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:37679145delT	uc001uwm.1	-	1	657	c.249delA	c.(247-249)AAAfs	p.K83fs		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	83	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)	1		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CATTGTTGTCTTTTTCCTGAC	0.468													-	37679145	T	-	37679145	7	5	20	1	0	1	0	1	0	0	0	0	3951	1606	56	0	768	0	CSNK1A1L	13	37679145	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	71547	37679145	77490733	1372	19043											
FREM2	341640	broad.mit.edu	37	chr13	39264653	39264653	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggagttactatatgggtgAccatcctgcctgttgatagc	11	8	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:39264653A>G	uc001uwv.2	+	1	3481	c.3172A>G	c.(3172-3174)ACC>GCC	p.T1058A		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1058	Extracellular (Potential).|CSPG 7.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TATATGGGTGACCATCCTGCC	0.408													G	39264653	A	G	39264653	3	3	20	1	0	0	0	0	1	0	0	0	6045	275	10	3	3174	3	FREM2	13	39264653	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1585508	39264653	75905225	1373	19044											
FREM2	341640	broad.mit.edu	37	chr13	39343783	39343783	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaagcacagaaacaagtgCagttcaacccaggccagacc	9	13	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:39343783C>T	uc001uwv.2	+	4	5788	c.5479C>T	c.(5479-5481)CAG>TAG	p.Q1827*	FREM2_uc001uww.2_5'UTR	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1827	Calx-beta 1.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAAACAAGTGCAGTTCAACCC	0.473													T	39343783	C	T	39343783	4	4	20	1	0	0	0	0	0	1	0	0	6045	711	25	2	5493	2	FREM2	13	39343783	Nonsense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	79130	39343783	75826095	1374	19045											
C13orf23	80209	broad.mit.edu	37	chr13	39587233	39587233	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaatgaccctgggagagatActgacggattaagagatggg	14	5	0	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:39587233A>G	uc001uwy.2	-	11	3029	c.2156T>C	c.(2155-2157)GTA>GCA	p.V719A	C13orf23_uc001uwz.2_Missense_Mutation_p.V697A	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	719	Ser-rich.									ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)		TGGGAGAGATACTGACGGATT	0.483													G	39587233	A	G	39587233	3	3	20	1	0	0	0	0	1	0	0	0	1721	391	14	3	690	3	C13orf23	13	39587233	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	243450	39587233	75582645	1375	19046											
KBTBD6	89890	broad.mit.edu	37	chr13	41705322	41705323	+	Frame_Shift_Ins	INS	-	-	C													ctccagtaatagggtctcgcINSccccccaaaatgtagatata					rs147771080		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:41705321_41705322G>GC	uc001uxu.1	-	0	1615_1616	c.1326_1327C>GC	c.(1324-1329)gggcgafs	p.G442fs	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	442							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.47													C	41705323	-	C	41705322	7	5	20	1	0	1	1	0	0	0	0	0	7997	726	26	0	702	0	KBTBD6	13	41705322	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	2118089	41705322	73464556	1376	19047											
DGKH	160851	broad.mit.edu	37	chr13	42764582	42764582	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtgaaccagctaatcaGtcctctgattatgacagcac	7	13	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:42764582G>C	uc001uyl.1	+	16	1977	c.1956G>C	c.(1954-1956)CAG>CAC	p.Q652H	DGKH_uc010tfh.1_Missense_Mutation_p.Q652H|DGKH_uc001uym.1_Missense_Mutation_p.Q652H|DGKH_uc010tfi.1_Missense_Mutation_p.Q407H|DGKH_uc010tfj.1_Missense_Mutation_p.Q507H|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.Q507H|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	652					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CAGCTAATCAGTCCTCTGATT	0.388													C	42764582	G	C	42764582	3	2	20	1	0	0	0	0	1	0	0	0	4470	1020	36	5	2018	5	DGKH	13	42764582	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1059260	42764582	72405296	1377	19048											
DGKH	160851	broad.mit.edu	37	chr13	42773803	42773803	+	Frame_Shift_Del	DEL	A	A	-													taaaagagaggagcaccctgAaaaatgcaggtaattttagt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:42773802_42773802GA>G	uc001uyl.2	+	18	2453	c.2386_2386GA>G	c.(2386-2388)gaafs	p.E796fs	DGKH_uc010tfh.2_Frame_Shift_Del_p.E796fs|DGKH_uc001uym.2_Frame_Shift_Del_p.E796fs|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Frame_Shift_Del_p.E551fs|DGKH_uc001uyo.2_Frame_Shift_Del_p.E660fs|DGKH_uc010tfj.2_Frame_Shift_Del_p.E660fs|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	796					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GGAGCACCCTGAAAAATGCAG	0.289													-	42773803	A	-	42773803	7	5	20	1	0	1	0	1	0	0	0	0	4470	246	9	0	2461	0	DGKH	13	42773803	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	9221	42773803	72396075	1378	19049											
SIAH3	283514	broad.mit.edu	37	chr13	46358019	46358019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacacatgcacaggcagggCgtcaccgggttggcgtgcag	17	11	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:46358019C>T	uc001vap.2	-	2	391	c.309G>A	c.(307-309)ACG>ACA	p.T103T		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	seven in absentia homolog 3	103	SIAH-type; degenerate.				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			ovary(1)|skin(1)	2						ACAGGCAGGGCGTCACCGGGT	0.438													T	46358019	C	T	46358019	2	4	20	1	0	0	0	0	0	0	0	1	14301	755	27	1		1	SIAH3	13	46358019	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	3584216	46358019	68811859	1379	19050											
ZC3H13	23091	broad.mit.edu	37	chr13	46549464	46549464	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttggattcctatcttctcGgatctcttctcgcttttctc	5	13	6	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:46549464G>A	uc010tfw.1	-	11	2428	c.2422C>T	c.(2422-2424)CGA>TGA	p.R808*	ZC3H13_uc001vas.1_Nonsense_Mutation_p.R808*|ZC3H13_uc001vat.1_Nonsense_Mutation_p.R808*	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	808	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTATCTTCTCGGATCTCTTCT	0.323													A	46549464	G	A	46549464	4	1	20	1	0	0	0	0	0	1	0	0	17562	1124	39	1	2296	1	ZC3H13	13	46549464	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	191445	46549464	68620414	1380	19051											
SUCLA2	8803	broad.mit.edu	37	chr13	48562777	48562777	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattctgcccttttctcccgTttgcttggtaaacaattttt	5	10	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:48562777T>G	uc001vbs.2	-	4	490	c.433A>C	c.(433-435)ACG>CCG	p.T145P	SUCLA2_uc010tgb.1_Missense_Mutation_p.T85P|SUCLA2_uc010tgc.1_Missense_Mutation_p.T11P|SUCLA2_uc010tgd.1_Missense_Mutation_p.T85P|SUCLA2_uc001vbt.1_RNA|SUCLA2_uc001vbu.1_Missense_Mutation_p.T145P	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	145	ATP-grasp.				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)	1		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TTTTCTCCCGTTTGCTTGGTA	0.353													G	48562777	T	G	48562777	3	3	20	1	0	0	0	0	1	0	0	0	15362	1725	60	5	990	5	SUCLA2	13	48562777	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2013313	48562777	66607101	1381	19052											
FNDC3A	22862	broad.mit.edu	37	chr13	49772224	49772224	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaaataagcgatgatgAgatagaaaatccccattatt	7	6	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:49772224A>C	uc001vcm.2	+	22	2902	c.2597A>C	c.(2596-2598)GAG>GCG	p.E866A	FNDC3A_uc001vcn.2_Missense_Mutation_p.E866A|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Missense_Mutation_p.E810A	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	866	Fibronectin type-III 7.					Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AGCGATGATGAGATAGAAAAT	0.453													C	49772224	A	C	49772224	3	2	20	1	0	0	0	0	1	0	0	0	5969	304	11	5	2690	5	FNDC3A	13	49772224	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1209447	49772224	65397654	1382	19053											
ATP7B	540	broad.mit.edu	37	chr13	52515321	52515321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttgcgcctcagccactcaCggtttccaatcagcacagag	9	15	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:52515321C>T	uc001vfw.2	-	16	3609	c.3452G>A	c.(3451-3453)CGT>CAT	p.R1151H	ATP7B_uc010adv.2_Missense_Mutation_p.R721H|ATP7B_uc001vfx.2_Missense_Mutation_p.R944H|ATP7B_uc001vfy.2_Missense_Mutation_p.R1040H|ATP7B_uc010tgt.1_Missense_Mutation_p.R1086H|ATP7B_uc010tgu.1_Missense_Mutation_p.R1103H|ATP7B_uc010tgv.1_Missense_Mutation_p.R1073H|ATP7B_uc001vfv.2_Missense_Mutation_p.R423H|ATP7B_uc010tgs.1_Missense_Mutation_p.R362H	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1151	Cytoplasmic (Potential).		R -> H (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CAGCCACTCACGGTTTCCAAT	0.468									Wilson_disease				T	52515321	C	T	52515321	3	4	20	1	0	0	0	0	1	0	0	0	1191	536	19	1	969	1	ATP7B	13	52515321	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2743097	52515321	62654557	1383	19054											
LECT1	11061	broad.mit.edu	37	chr13	53277901	53277901	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctatacaacagattccttcGtgatccagtctagggtcgaa	8	10	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:53277901G>A	uc001vhf.2	-	7	945	c.834C>T	c.(832-834)CAC>CAT	p.H278H	LECT1_uc001vhg.2_Silent_p.H277H|LECT1_uc001vhh.2_Silent_p.H267H	NM_007015	NP_008946	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1 isoform 1	278					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				ovary(2)	2		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		AGATTCCTTCGTGATCCAGTC	0.448													A	53277901	G	A	53277901	2	1	20	1	0	0	0	0	0	0	0	1	8712	1136	40	1		1	LECT1	13	53277901	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	762580	53277901	61891977	1384	19055											
PCDH9	5101	broad.mit.edu	37	chr13	67801672	67801672	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attatttaaagcaaagagtcTtttggttgcaggggcgacct	11	6	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:67801672T>C	uc001vik.2	-	2	1593	c.901A>G	c.(901-903)AGA>GGA	p.R301G	PCDH9_uc001vil.2_Missense_Mutation_p.R301G|PCDH9_uc010thl.1_Missense_Mutation_p.R301G|PCDH9_uc001vin.3_Missense_Mutation_p.R301G	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	301	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GCAAAGAGTCTTTTGGTTGCA	0.458													C	67801672	T	C	67801672	3	2	20	1	0	0	0	0	1	0	0	0	11518	1617	56	3	2828	3	PCDH9	13	67801672	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	14523771	67801672	47368206	1385	19056											
TBC1D4	9882	broad.mit.edu	37	chr13	75886963	75886963	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagatccggcgaggagtgAcagaggttcctcccacactt	13	11	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:75886963A>G	uc001vjl.1	-	13	2641	c.2294T>C	c.(2293-2295)GTC>GCC	p.V765A	TBC1D4_uc010tht.1_5'UTR|TBC1D4_uc010thu.1_5'UTR|TBC1D4_uc010aer.2_Missense_Mutation_p.V757A|TBC1D4_uc010aes.2_Missense_Mutation_p.V702A	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	765						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GCGAGGAGTGACAGAGGTTCC	0.498													G	75886963	A	G	75886963	3	3	20	1	0	0	0	0	1	0	0	0	15619	275	10	3	1638	3	TBC1D4	13	75886963	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	8085291	75886963	39282915	1386	19057											
MYCBP2	23077	broad.mit.edu	37	chr13	77638832	77638833	+	Frame_Shift_Ins	INS	-	-	T													gatggtttctgcaatagcatINStttttgtcactcgggaccaa							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:77638831_77638832A>AT	uc021rks.1	-	72	12857_12858	c.12590_12591T>AT	c.(12589-12591)aatfs	p.N4197fs	MYCBP2_uc010aev.3_Frame_Shift_Ins_p.N3563fs|MYCBP2_uc001vke.3_Frame_Shift_Ins_p.N776fs	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	4159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTGCAATAGCATTTTTTGTCAC	0.376													T	77638833	-	T	77638832	7	5	20	1	0	1	1	0	0	0	0	0	10018	1493	52	0	1490	0	MYCBP2	13	77638832	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	1751869	77638832	37531046	1387	19058											
TPP2	7174	broad.mit.edu	37	chr13	103282504	103282504	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtattcactgagagagaaAttacctgcaaatcaatatac	7	7	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:103282504A>G	uc001vpi.3	+	10	1306	c.1203A>G	c.(1201-1203)AAA>AAG	p.K401K		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	401					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGAGAGAGAAATTACCTGCAA	0.398													G	103282504	A	G	103282504	2	3	20	1	0	0	0	0	0	0	0	1	16409	98	4	3		3	TPP2	13	103282504	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	25643672	103282504	11887374	1388	19059											
MYO16	23026	broad.mit.edu	37	chr13	109318382	109318383	+	Frame_Shift_Ins	INS	-	-	T													actatgagcgcgagaaggctINStttcagaagcaggaagggtt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:109318381_109318382C>CT	uc010agk.2	+	1	798_799	c.176_177C>CT	c.(175-177)gctfs	p.A59fs	MYO16_uc001vqt.1_Frame_Shift_Ins_p.A37fs	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	37					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CGCGAGAAGGCTTTTCAGAAGC	0.53													T	109318383	-	T	109318382	7	5	20	1	0	1	1	0	0	0	0	0	10064	1596	56	0	113	0	MYO16	13	109318382	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	6035878	109318382	5851496	1389	19060											
MYO16	23026	broad.mit.edu	37	chr13	109859071	109859071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcagatcctgcaccacGctgagcccagggtgcctccc	12	17	0	2	rs139848765	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:109859071G>A	uc001vqt.1	+	35	5590	c.5464G>A	c.(5464-5466)GCT>ACT	p.A1822T	MYO16_uc010agk.1_Missense_Mutation_p.A1844T	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1822					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCTGCACCACGCTGAGCCCAG	0.602													A	109859071	G	A	109859071	3	1	20	1	0	0	0	0	1	0	0	0	10064	1087	38	1	5598	1	MYO16	13	109859071	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	540689	109859071	5310807	1390	19061											
COL4A1	1282	broad.mit.edu	37	chr13	110802784	110802784	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccttcaaggtggacggcgTaggcttcctaaaacacgaca	11	11	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:110802784T>C	uc001vqw.3	-	52	5058	c.4936A>G	c.(4936-4938)ACG>GCG	p.T1646A	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1646	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GTGGACGGCGTAGGCTTCCTA	0.532													C	110802784	T	C	110802784	3	2	20	1	0	0	0	0	1	0	0	0	3689	1638	57	3	77	3	COL4A1	13	110802784	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	943713	110802784	4367094	1391	19062											
COL4A1	1282	broad.mit.edu	37	chr13	110859230	110859230	+	Frame_Shift_Del	DEL	T	T	-													acctgaaatccaggttcaccTttttggccctgaaagaattc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:110859229_110859229CT>C	uc001vqw.4	-	13	912	c.790_790AG>G	c.(790-792)ggtfs	p.G264fs		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	264	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCAGGTTCACCTTTTTGGCCC	0.343													-	110859230	T	-	110859230	7	5	20	1	0	1	0	1	0	0	0	0	3689	1606	56	0	4376	0	COL4A1	13	110859230	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	56446	110859230	4310648	1392	19063											
CARKD	55739	broad.mit.edu	37	chr13	111286940	111286940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatccctgttgtcatcgacGcggtgagttgacttctctcc	9	13	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:111286940G>A	uc001vrb.2	+	6	558	c.544G>A	c.(544-546)GCG>ACG	p.A182T	CARKD_uc010tji.1_Missense_Mutation_p.A119T|CARKD_uc010tjj.1_Missense_Mutation_p.A164T|CARKD_uc001vqz.2_RNA|CARKD_uc001vra.2_RNA|CARKD_uc010tjk.1_Missense_Mutation_p.A72T|CARKD_uc010tjl.1_Missense_Mutation_p.A51T|CARKD_uc001vrc.2_Missense_Mutation_p.A182T			Q8IW45	CARKD_HUMAN	RecName: Full=Carbohydrate kinase domain-containing protein; Flags: Precursor;	182	YjeF C-terminal.									skin(1)	1						TGTCATCGACGCGGTGAGTTG	0.547													A	111286940	G	A	111286940	3	1	20	1	0	0	0	0	1	0	0	0	2654	1087	38	1	566	1	CARKD	13	111286940	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	427710	111286940	3882938	1393	19064											
ARHGEF7	8874	broad.mit.edu	37	chr13	111870075	111870075	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtaagagcaaagtttaActtccagcagaccaatgagg	11	7	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:111870075A>G	uc001vrs.2	+	6	831	c.581A>G	c.(580-582)AAC>AGC	p.N194S	ARHGEF7_uc001vrr.2_Missense_Mutation_p.N173S|ARHGEF7_uc001vrt.2_Missense_Mutation_p.N144S|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Missense_Mutation_p.N16S|ARHGEF7_uc001vrv.3_Missense_Mutation_p.N16S|ARHGEF7_uc001vrw.3_Missense_Mutation_p.N16S|ARHGEF7_uc001vrx.3_Missense_Mutation_p.N16S|ARHGEF7_uc010tjo.1_Missense_Mutation_p.N91S	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	194	SH3.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCAAAGTTTAACTTCCAGCAG	0.463													G	111870075	A	G	111870075	3	3	20	1	0	0	0	0	1	0	0	0	911	43	2	3	603	3	ARHGEF7	13	111870075	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	583135	111870075	3299803	1394	19065											
FAM70B	348013	broad.mit.edu	37	chr13	114507957	114507957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcaggcttccgcctgacgCccgagcccgtcccgacctgc	11	20	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:114507957C>T	uc001vuh.2	+	8	796	c.769C>T	c.(769-771)CCC>TCC	p.P257S		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	257	Pro-rich.					integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			CCGCCTGACGCCCGAGCCCGT	0.677													T	114507957	C	T	114507957	3	4	20	1	0	0	0	0	1	0	0	0	5606	739	26	2	799	2	FAM70B	13	114507957	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2637882	114507957	661921	1395	19066											
RASA3	22821	broad.mit.edu	37	chr13	114780718	114780720	+	In_Frame_Del	DEL	AGA	AGA	-													ggccgccgcctcccggagggAgaagaagatgtcacacatga							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:114780717_114780719GAGA>G	uc001vui.3	-	13	1502_1504	c.1371_1373TCTC>C	c.(1369-1374)ttctcc>ttCc	p.S458del	RASA3_uc010tkk.2_In_Frame_Del_p.S426del|RASA3_uc001vuj.3_In_Frame_Del_p.S75del	NM_007368	NP_031394	Q14644	RASA3_HUMAN	Homo sapiens RAS p21 protein activator 3 (RASA3), mRNA.	458	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|calcium-release channel activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CTCCCGGAGGGAGAAGAAGATGT	0.616													-	114780720	AGA	-	114780718	7	5	20	1	0	1	0	1	0	0	0	0	13062	304	11	0	1176	0	RASA3	13	114780718	In_Frame_Del	DEL	AGA	TCGA-BR-4362-01A-01D-1158-08	272761	114780718	389160	1396	19067											
RASA3	22821	broad.mit.edu	37	chr13	114786967	114786967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaaacttcaggttactgGcattccagaggtcaactctg	8	12	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:114786967G>A	uc001vui.2	-	9	829	c.698C>T	c.(697-699)GCC>GTC	p.A233V	RASA3_uc010tkk.1_Missense_Mutation_p.A201V|RASA3_uc001vuj.2_5'UTR|RASA3_uc010tkl.1_RNA|RASA3_uc010aha.1_RNA	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	233	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CAGGTTACTGGCATTCCAGAG	0.537													A	114786967	G	A	114786967	3	1	20	1	0	0	0	0	1	0	0	0	13062	1203	42	2	1870	2	RASA3	13	114786967	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	6249	114786967	382911	1397	19068											
CDC16	8881	broad.mit.edu	37	chr13	115007699	115007699	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctttgaagcttgatgtctActgttttgaagcgttcgatc	10	7	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:115007699A>G	uc001vuk.1	+	6	683	c.485A>G	c.(484-486)TAC>TGC	p.Y162C	CDC16_uc010tkm.1_Missense_Mutation_p.Y162C|CDC16_uc001vul.1_Missense_Mutation_p.Y162C|CDC16_uc001vum.1_Missense_Mutation_p.Y68C|CDC16_uc001vun.1_Missense_Mutation_p.Y161C|CDC16_uc001vuo.1_Missense_Mutation_p.Y161C	NM_003903	NP_003894	Q13042	CDC16_HUMAN	anaphase-promoting complex, subunit 6	162	TPR 1.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding				0	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			CTTGATGTCTACTGTTTTGAA	0.388													G	115007699	A	G	115007699	3	3	20	1	0	0	0	0	1	0	0	0	3058	391	14	3	507	3	CDC16	13	115007699	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	220732	115007699	162179	1398	19069											
OR4N2	390429	broad.mit.edu	37	chr14	20296294	20296294	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgcatacgagggtcttcTtctgaggcaaaaaacaaggc	11	9	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:20296294T>G	uc010tkv.1	+	1	687	c.687T>G	c.(685-687)TCT>TCG	p.S229S		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAGGGTCTTCTTCTGAGGCAA	0.488													G	20296294	T	G	20296294	2	3	20	1	0	0	0	0	0	0	0	1	11077	1596	56	5		5	OR4N2	14	20296294	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08		20296294	87053246	1399	19070											
TEP1	7011	broad.mit.edu	37	chr14	20849766	20849766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctcttcccatagcaacGtttagctgctgttctcaggg	10	12	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:20849766G>A	uc001vxe.2	-	31	4544	c.4504C>T	c.(4504-4506)CGT>TGT	p.R1502C	TEP1_uc010ahk.2_Missense_Mutation_p.R845C|TEP1_uc010tlf.1_Intron|TEP1_uc010tlg.1_Missense_Mutation_p.R1394C|TEP1_uc010tlh.1_Intron	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1502					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCATAGCAACGTTTAGCTGCT	0.627													A	20849766	G	A	20849766	3	1	20	1	0	0	0	0	1	0	0	0	15756	1145	40	1	3479	1	TEP1	14	20849766	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	553472	20849766	86499774	1400	19071											
FLJ10357	55701	broad.mit.edu	37	chr14	21552988	21552988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgaaagaagtgccttcGccatgtctttctcttcgagc	10	12	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:21552988G>A	uc001vzp.2	+	18	3895	c.3866G>A	c.(3865-3867)CGC>CAC	p.R1289H	FLJ10357_uc001vzo.1_Missense_Mutation_p.R368H|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.R575H	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	1289	PH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		AAGTGCCTTCGCCATGTCTTT	0.507													A	21552988	G	A	21552988	3	1	20	1	0	0	0	0	1	0	0	0	5926	1087	38	1	3936	1	FLJ10357	14	21552988	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	703222	21552988	85796552	1401	19072											
RPGRIP1	57096	broad.mit.edu	37	chr14	21792816	21792816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttatggcacccgaccgttgtCgttatgtttggaaacactgc	10	10	0	0	rs3748360	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:21792816C>T	uc001wag.2	+	14	1802	c.1802C>T	c.(1801-1803)TCG>TTG	p.S601L	RPGRIP1_uc001wah.2_Missense_Mutation_p.S243L|RPGRIP1_uc001wai.2_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.S66L|RPGRIP1_uc001wak.2_Missense_Mutation_p.S76L|RPGRIP1_uc010aim.2_Intron|RPGRIP1_uc001wal.2_Missense_Mutation_p.R10C|RPGRIP1_uc001wam.2_5'UTR	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	601					response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CGACCGTTGTCGTTATGTTTG	0.473													T	21792816	C	T	21792816	3	4	20	1	0	0	0	0	1	0	0	0	13549	893	31	1	1856	1	RPGRIP1	14	21792816	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	239828	21792816	85556724	1402	19073											
SUPT16H	11198	broad.mit.edu	37	chr14	21830483	21830483	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccacggacatacttatatTctgttcaaaggaaaagcata	6	8	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:21830483T>C	uc001wao.2	-	15	2005	c.1666A>G	c.(1666-1668)AAT>GAT	p.N556D		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	556					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		ATACTTATATTCTGTTCAAAG	0.363													C	21830483	T	C	21830483	3	2	20	1	0	0	0	0	1	0	0	0	15393	1797	62	3	1525	3	SUPT16H	14	21830483	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	37667	21830483	85519057	1403	19074											
OR10G3	26533	broad.mit.edu	37	chr14	22038071	22038071	+	Frame_Shift_Del	DEL	G	G	-													tagggcagctgccccatccaGggggctgttggtttcaggcc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:22038070_22038070AG>A	uc010tmb.2	-	0	806	c.806_806CT>T	c.(805-807)ctgfs	p.L269fs		NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		TGCCCCATCCAGGGGGCTGTT	0.572													-	22038071	G	-	22038071	7	5	20	1	0	1	0	1	0	0	0	0	10900	991	35	0	139	0	OR10G3	14	22038071	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	207588	22038071	85311469	1404	19075											
CDH24	64403	broad.mit.edu	37	chr14	23523477	23523477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtctgggtcctgggccCggagccggcccaccagtgtg	16	15	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:23523477C>T	uc001wil.2	-	6	1105	c.845G>A	c.(844-846)CGG>CAG	p.R282Q	CDH24_uc010akf.2_Missense_Mutation_p.R282Q|CDH24_uc001win.3_Missense_Mutation_p.R282Q	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	282	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GTCCTGGGCCCGGAGCCGGCC	0.627													T	23523477	C	T	23523477	3	4	20	1	0	0	0	0	1	0	0	0	3109	652	23	1	1646	1	CDH24	14	23523477	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1485406	23523477	83826063	1405	19076											
MYH6	4624	broad.mit.edu	37	chr14	23853917	23853917	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcagctcctctgccaTcatggcggcctgtgtgcagg	11	14	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:23853917T>C	uc001wjv.2	-	36	5366	c.5299A>G	c.(5299-5301)ATG>GTG	p.M1767V		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1767	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCTCTGCCATCATGGCGGCC	0.612													C	23853917	T	C	23853917	3	2	20	1	0	0	0	0	1	0	0	0	10038	1435	50	3	536	3	MYH6	14	23853917	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	330440	23853917	83495623	1406	19077											
DHRS2	10202	broad.mit.edu	37	chr14	24108526	24108526	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcgggcattgtgtgccaCgtggggaaggctgaggaccg	20	8	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:24108526C>T	uc001wkt.3	+	3	726	c.279C>T	c.(277-279)CAC>CAT	p.H93H	DHRS2_uc010aku.1_Silent_p.H93H|DHRS2_uc001wku.3_Silent_p.H93H|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Silent_p.H93H	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	dehydrogenase/reductase member 2 isoform 1	71					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00659)		TTGTGTGCCACGTGGGGAAGG	0.657													T	24108526	C	T	24108526	2	4	20	1	0	0	0	0	0	0	0	1	4490	535	19	1		1	DHRS2	14	24108526	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	254609	24108526	83241014	1407	19078											
STXBP6	29091	broad.mit.edu	37	chr14	25325269	25325269	+	Frame_Shift_Del	DEL	A	A	-													gtgctggctacccactggtcAaaagcattttcaaacaacaa							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:25325269delA	uc001wpu.2	-	4	1039	c.324delT	c.(322-324)TTTfs	p.F108fs	STXBP6_uc001wpv.2_Frame_Shift_Del_p.F108fs|STXBP6_uc001wpw.2_Frame_Shift_Del_p.F108fs|STXBP6_uc001wpx.1_RNA	NM_014178	NP_054897	Q8NFX7	STXB6_HUMAN	amisyn	108					vesicle-mediated transport	cytoplasm|integral to membrane					0				GBM - Glioblastoma multiforme(265;0.0296)		CCCACTGGTCAAAAGCATTTT	0.423													-	25325269	A	-	25325269	7	5	20	1	0	1	0	1	0	0	0	0	15357	127	5	0	320	0	STXBP6	14	25325269	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	1216743	25325269	82024271	1408	19079											
PRKD1	5587	broad.mit.edu	37	chr14	30068878	30068878	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacctgagtaattaaaaacTtcgttatgtgctctggcaac	7	8	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:30068878T>G	uc001wqh.2	-	14	2232	c.2051A>C	c.(2050-2052)AAG>ACG	p.K684T		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	684	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AATTAAAAACTTCGTTATGTG	0.353													G	30068878	T	G	30068878	3	3	20	1	0	0	0	0	1	0	0	0	12518	1609	56	5	707	5	PRKD1	14	30068878	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	4743609	30068878	77280662	1409	19080											
NPAS3	64067	broad.mit.edu	37	chr14	34269414	34269414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgggcctggtggagccccCgcggctgctgtcctccccca	14	19	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:34269414C>T	uc001wru.2	+	12	1965	c.1901C>T	c.(1900-1902)CCG>CTG	p.P634L	NPAS3_uc001wrs.2_Missense_Mutation_p.P621L|NPAS3_uc001wrt.2_Missense_Mutation_p.P602L|NPAS3_uc001wrv.2_Missense_Mutation_p.P604L	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GTGGAGCCCCCGCGGCTGCTG	0.642													T	34269414	C	T	34269414	3	4	20	1	0	0	0	0	1	0	0	0	10564	652	23	1	2002	1	NPAS3	14	34269414	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	4200536	34269414	73080126	1410	19081											
MIPOL1	145282	broad.mit.edu	37	chr14	37754647	37754647	+	Frame_Shift_Del	DEL	A	A	-													aagcatatggaaatgtctctAaaagtgtatgtacacattta							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:37754647delA	uc001wuc.2	+	8	1121	c.618delA	c.(616-618)CTAfs	p.L206fs	MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Frame_Shift_Del_p.L175fs|MIPOL1_uc001wud.2_Frame_Shift_Del_p.L206fs|MIPOL1_uc010ams.2_Frame_Shift_Del_p.L206fs|MIPOL1_uc001wue.2_Frame_Shift_Del_p.L175fs|MIPOL1_uc010amt.2_Frame_Shift_Del_p.L25fs	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	206	Potential.									ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AAATGTCTCTAAAAGTGTATG	0.368													-	37754647	A	-	37754647	7	5	20	1	0	1	0	1	0	0	0	0	9593	349	13	0	636	0	MIPOL1	14	37754647	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	3485233	37754647	69594893	1411	19082											
MIA2	117153	broad.mit.edu	37	chr14	39703369	39703370	+	Frame_Shift_Del	DEL	AA	AA	-													cttctggctatttctctgacAaagtgtctggagagtacaaa							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:39703369_39703370delAA	uc001wux.2	+	1	245_246	c.51_52delAA	c.(49-54)ACAAAGfs	p.T17fs	MIA2_uc010amy.1_5'UTR	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	17_18						extracellular region				ovary(1)|breast(1)	2	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TTTCTCTGACAAAGTGTCTGGA	0.426													-	39703370	AA	-	39703369	7	5	20	1	0	1	0	1	0	0	0	0	9564	117	5	0	53	0	MIA2	14	39703369	Frame_Shift_Del	DEL	AA	TCGA-BR-4362-01A-01D-1158-08	1948722	39703369	67646171	1412	19083											
FBXO33	254170	broad.mit.edu	37	chr14	39870564	39870564	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaatagcccctgaaacacaAgtgatatagctatcaaaatg	6	9	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:39870564A>G	uc001wvk.2	-	3	1550	c.1212T>C	c.(1210-1212)ACT>ACC	p.T404T		NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	F-box protein 33	404											0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		CTGAAACACAAGTGATATAGC	0.343													G	39870564	A	G	39870564	2	3	20	1	0	0	0	0	0	0	0	1	5743	59	3	3		3	FBXO33	14	39870564	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	167195	39870564	67478976	1413	19084											
LRFN5	145581	broad.mit.edu	37	chr14	42356770	42356770	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaagccaggggagacccTgagcctgcaattcactggat	12	11	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:42356770T>C	uc001wvm.2	+	3	2140	c.942T>C	c.(940-942)CCT>CCC	p.P314P	LRFN5_uc010ana.2_Silent_p.P314P	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	314	Extracellular (Potential).|Ig-like.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GGGGAGACCCTGAGCCTGCAA	0.458										HNSCC(30;0.082)			C	42356770	T	C	42356770	2	2	20	1	0	0	0	0	0	0	0	1	8941	1567	55	3		3	LRFN5	14	42356770	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2486206	42356770	64992770	1414	19085											
LRFN5	145581	broad.mit.edu	37	chr14	42357187	42357187	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaatccagtacaatggTacttatgatgacacccttgt	6	9	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:42357187T>A	uc001wvm.2	+	3	2557	c.1359T>A	c.(1357-1359)GGT>GGA	p.G453G	LRFN5_uc010ana.2_Silent_p.G453G	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	453	Extracellular (Potential).|Fibronectin type-III.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGTACAATGGTACTTATGATG	0.323										HNSCC(30;0.082)			A	42357187	T	A	42357187	2	1	20	1	0	0	0	0	0	0	0	1	8941	1625	57	5		5	LRFN5	14	42357187	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	417	42357187	64992353	1415	19086											
FAM179B	23116	broad.mit.edu	37	chr14	45501482	45501482	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaggatgccttctgtcactCatagtccagaaataatggat	8	8	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:45501482C>T	uc001wvv.2	+	11	3924	c.3715C>T	c.(3715-3717)CAT>TAT	p.H1239Y	FAM179B_uc001wvw.2_Missense_Mutation_p.H1239Y|FAM179B_uc010anc.2_RNA	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	1239							binding			skin(2)|upper_aerodigestive_tract(1)	3						TTCTGTCACTCATAGTCCAGA	0.378													T	45501482	C	T	45501482	3	4	20	1	0	0	0	0	1	0	0	0	5506	826	29	4	3757	4	FAM179B	14	45501482	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	3144295	45501482	61848058	1416	19087											
FAM179B	23116	broad.mit.edu	37	chr14	45542738	45542738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagtttggaggaattactcGatatgacaattttaaatgaa	9	3	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:45542738G>A	uc001wvv.2	+	19	5346	c.5137G>A	c.(5137-5139)GAT>AAT	p.D1713N	FAM179B_uc001wvw.2_Missense_Mutation_p.D1766N|FAM179B_uc010anc.2_RNA	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	1713							binding			skin(2)|upper_aerodigestive_tract(1)	3						GGAATTACTCGATATGACAAT	0.313													A	45542738	G	A	45542738	3	1	20	1	0	0	0	0	1	0	0	0	5506	1058	37	1	5211	1	FAM179B	14	45542738	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	41256	45542738	61806802	1417	19088											
RPL10L	140801	broad.mit.edu	37	chr14	47120878	47120878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaacccctcggcagaaaCgagattttgggtacggcttg	13	10	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:47120878C>T	uc001wwg.2	-	1	151	c.62G>A	c.(61-63)CGT>CAT	p.R21H		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	21					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						TCGGCAGAAACGAGATTTTGG	0.542													T	47120878	C	T	47120878	3	4	20	1	0	0	0	0	1	0	0	0	13556	536	19	1	586	1	RPL10L	14	47120878	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1578140	47120878	60228662	1418	19089											
PYGL	5836	broad.mit.edu	37	chr14	51387719	51387719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccgagcagaccagaggcGcatggtgttgacagtgttat	14	9	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:51387719G>A	uc001wyu.2	-	6	854	c.727C>T	c.(727-729)CGC>TGC	p.R243C	PYGL_uc010tqq.1_Missense_Mutation_p.R209C|PYGL_uc001wyv.2_5'UTR|PYGL_uc010anz.1_Missense_Mutation_p.R46C	NM_002863	NP_002854	P06737	PYGL_HUMAN	liver glycogen phosphorylase isoform 1	243					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			skin(1)	1	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GACCAGAGGCGCATGGTGTTG	0.498													A	51387719	G	A	51387719	3	1	20	1	0	0	0	0	1	0	0	0	12861	1087	38	1	1876	1	PYGL	14	51387719	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	4266841	51387719	55961821	1419	19090											
TRIM9	114088	broad.mit.edu	37	chr14	51561516	51561516	+	Frame_Shift_Del	DEL	G	G	-													gcccgcggcccgatggctctGgggggattcagactctgggg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:51561515_51561515TG>T	uc001wyx.4	-	0	908	c.143_143CA>A	c.(142-144)cagfs	p.Q48fs	TRIM9_uc001wyy.2_Frame_Shift_Del_p.Q48fs|TRIM9_uc001wyz.4_Frame_Shift_Del_p.Q48fs	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	48					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CCGATGGCTCTGGGGGGATTC	0.612													-	51561516	G	-	51561516	7	5	20	1	0	1	0	1	0	0	0	0	16546	1357	47	0	2080	0	TRIM9	14	51561516	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	173797	51561516	55788024	1420	19091											
NID2	22795	broad.mit.edu	37	chr14	52485867	52485867	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcagggtccacgcaccagcaGaaaccagtgctgccatgaca	10	14	1	2	rs138141385		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:52485867G>T	uc001wzo.2	-	14	3174	c.2940C>A	c.(2938-2940)TTC>TTA	p.F980L	NID2_uc010tqs.1_Missense_Mutation_p.F932L|NID2_uc010tqt.1_Missense_Mutation_p.F980L|NID2_uc001wzp.2_Missense_Mutation_p.F980L	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	980	Thyroglobulin type-1 1.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					CGCACCAGCAGAAACCAGTGC	0.622													T	52485867	G	T	52485867	3	4	20	1	0	0	0	0	1	0	0	0	10415	933	33	5	1223	5	NID2	14	52485867	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	924351	52485867	54863673	1421	19092											
KIAA0831	22863	broad.mit.edu	37	chr14	55848812	55848812	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatcgtcacagacccatcGtcctgagaggtaagttgtcc	11	11	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:55848812G>A	uc001xbx.1	-	6	781	c.745C>T	c.(745-747)CGA>TGA	p.R249*	FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Nonsense_Mutation_p.R136*	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Barkor	249					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding				0						CAGACCCATCGTCCTGAGAGG	0.537													A	55848812	G	A	55848812	4	1	20	1	0	0	0	0	0	1	0	0	8195	1153	40	1	753	1	KIAA0831	14	55848812	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3362945	55848812	51500728	1422	19093											
TBPL2	387332	broad.mit.edu	37	chr14	55903343	55903343	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtcatgggagttatggAtgccagagacaaggagtcgg	17	5	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:55903343A>T	uc001xby.2	-	2	544	c.544T>A	c.(544-546)TCC>ACC	p.S182T		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	182					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding				0						GGAGTTATGGATGCCAGAGAC	0.438													T	55903343	A	T	55903343	3	4	20	1	0	0	0	0	1	0	0	0	15643	333	12	5	607	5	TBPL2	14	55903343	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	54531	55903343	51446197	1423	19094											
PELI2	57161	broad.mit.edu	37	chr14	56757153	56757153	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgcgagaaaccaggtcGgcccagcaacgaggaaagct	12	12	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:56757153G>A	uc001xch.2	+	5	961	c.675G>A	c.(673-675)TCG>TCA	p.S225S		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	pellino 2	225					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			ovary(1)	1						AAACCAGGTCGGCCCAGCAAC	0.557													A	56757153	G	A	56757153	2	1	20	1	0	0	0	0	0	0	0	1	11722	1103	39	1		1	PELI2	14	56757153	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	853810	56757153	50592387	1424	19095											
C14orf37	145407	broad.mit.edu	37	chr14	58604793	58604793	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaagaaaaacagggcatcGttttccttggtggattccgt	10	8	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:58604793G>A	uc001xdc.2	-	2	1395	c.1284C>T	c.(1282-1284)AAC>AAT	p.N428N	C14orf37_uc010tro.1_Silent_p.N466N|C14orf37_uc001xdd.2_Silent_p.N428N|C14orf37_uc001xde.2_Silent_p.N428N	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	hypothetical protein LOC145407 precursor	428	Extracellular (Potential).					integral to membrane	binding				0						ACAGGGCATCGTTTTCCTTGG	0.413													A	58604793	G	A	58604793	2	1	20	1	0	0	0	0	0	0	0	1	1771	1136	40	1		1	C14orf37	14	58604793	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1847640	58604793	48744747	1425	19096											
C14orf39	317761	broad.mit.edu	37	chr14	60903608	60903608	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtgaggaagatgaaaaAccttttaaagaagaagaagg	11	2	0	6			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:60903608A>C	uc001xez.3	-	18	1829	c.1719T>G	c.(1717-1719)GGT>GGG	p.G573G	C14orf39_uc010apo.2_Silent_p.G284G	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	573										ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		AAGATGAAAAACCTTTTAAAG	0.308													C	60903608	A	C	60903608	2	2	20	1	0	0	0	0	0	0	0	1	1772	30	2	5		5	C14orf39	14	60903608	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2298815	60903608	46445932	1426	19097											
C14orf39	317761	broad.mit.edu	37	chr14	60903657	60903657	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttgaccctgtccaaatgaaAatggaaaactaaaatcatct	5	8	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:60903657A>T	uc001xez.3	-	18	1780	c.1670T>A	c.(1669-1671)TTT>TAT	p.F557Y	C14orf39_uc010apo.2_Missense_Mutation_p.F268Y	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	557										ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TCCAAATGAAAATGGAAAACT	0.338													T	60903657	A	T	60903657	3	4	20	1	0	0	0	0	1	0	0	0	1772	14	1	5	97	5	C14orf39	14	60903657	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	49	60903657	46445883	1427	19098											
ACTN1	87	broad.mit.edu	37	chr14	69392309	69392309	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcagcatgagcttcagGccatcccggaagtcctcttc	10	14	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:69392309G>A	uc001xkl.2	-	2	496	c.186C>T	c.(184-186)GGC>GGT	p.G62G	ACTN1_uc010ttb.1_5'UTR|ACTN1_uc001xkm.2_Silent_p.G62G|ACTN1_uc001xkn.2_Silent_p.G62G|ACTN1_uc001xko.1_5'UTR|ACTN1_uc010ttd.1_Silent_p.G41G	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	62	CH 1.|Actin-binding.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGAGCTTCAGGCCATCCCGGA	0.582													A	69392309	G	A	69392309	2	1	20	1	0	0	0	0	0	0	0	1	204	1190	42	2		2	ACTN1	14	69392309	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	8488652	69392309	37957231	1428	19099											
DCAF5	8816	broad.mit.edu	37	chr14	69588976	69588976	+	Frame_Shift_Del	DEL	A	A	-													cccactgttgaaagccaggcAaaaaatgttggaatggtgct							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:69588975_69588975CA>C	uc001xkp.3	-	1	536	c.317_317TG>G	c.(316-318)tgcfs	p.C106fs	DCAF5_uc001xkq.3_Frame_Shift_Del_p.C106fs|DCAF5_uc001xkr.4_Frame_Shift_Del_p.C106fs|DCAF5_uc001xks.2_Frame_Shift_Del_p.C106fs	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.	106						CUL4 RING ubiquitin ligase complex		p.C106fs*10(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GAAAGCCAGGCAAAAAATGTT	0.488													-	69588976	A	-	69588976	7	5	20	1	0	1	0	1	0	0	0	0	4273	130	5	0	2544	0	DCAF5	14	69588976	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	196667	69588976	37760564	1429	19100											
KIAA0247	9766	broad.mit.edu	37	chr14	70171406	70171406	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggcgctcattctcctcctCgtggtgctgtttgtgctgct	12	12	2	0	rs150724393	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:70171406C>T	uc001xlk.2	+	4	721	c.405C>T	c.(403-405)CTC>CTT	p.L135L	KIAA0247_uc010aqz.2_Silent_p.L110L	NM_014734	NP_055549	Q92537	K0247_HUMAN	hypothetical protein LOC9766 precursor	135	Helical; (Potential).					integral to membrane				ovary(3)	3				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		TTCTCCTCCTCGTGGTGCTGT	0.527													T	70171406	C	T	70171406	2	4	20	1	0	0	0	0	0	0	0	1	8165	871	31	1		1	KIAA0247	14	70171406	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	582430	70171406	37178134	1430	19101											
SMOC1	64093	broad.mit.edu	37	chr14	70346477	70346477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccctgctcgcggccacCgcaccacaggccccagggta	11	19	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:70346477C>T	uc001xls.1	+	1	335	c.82C>T	c.(82-84)CGC>TGC	p.R28C	SMOC1_uc001xlt.1_Missense_Mutation_p.R28C	NM_022137	NP_071420	Q9H4F8	SMOC1_HUMAN	secreted modular calcium-binding protein 1	28					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			upper_aerodigestive_tract(1)|pancreas(1)	2				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		TCGCGGCCACCGCACCACAGG	0.721													T	70346477	C	T	70346477	3	4	20	1	0	0	0	0	1	0	0	0	14801	652	23	1	84	1	SMOC1	14	70346477	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	175071	70346477	37003063	1431	19102											
SLC8A3	6547	broad.mit.edu	37	chr14	70634917	70634917	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaatagacaatgaccctggCaatcttgtccccaagggaag	9	10	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:70634917C>A	uc001xly.2	-	2	977	c.223G>T	c.(223-225)GCC>TCC	p.A75S	SLC8A3_uc001xlw.2_Missense_Mutation_p.A75S|SLC8A3_uc001xlx.2_Missense_Mutation_p.A75S|SLC8A3_uc001xlz.2_Missense_Mutation_p.A75S|SLC8A3_uc010ara.2_RNA	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	75	Helical; (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATGACCCTGGCAATCTTGTCC	0.512													A	70634917	C	A	70634917	3	1	20	1	0	0	0	0	1	0	0	0	14708	710	25	5	2699	5	SLC8A3	14	70634917	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	288440	70634917	36714623	1432	19103											
ADAM21	8747	broad.mit.edu	37	chr14	70924985	70924985	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtacttacataattttgattGgaattgaaatttggaatcaa	7	3	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:70924985G>T	uc001xmd.2	+	1	769	c.769G>T	c.(769-771)GGA>TGA	p.G257*		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	257	Peptidase M12B.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AATTTTGATTGGAATTGAAAT	0.368													T	70924985	G	T	70924985	4	4	20	1	0	0	0	0	0	1	0	0	243	1349	47	5	771	5	ADAM21	14	70924985	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	290068	70924985	36424555	1433	19104											
PCNX	22990	broad.mit.edu	37	chr14	71462617	71462617	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaatgcatctgctgtaggCggtagcagtttgcacgatga	13	8	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:71462617C>T	uc001xmo.2	+	8	3050	c.2604C>T	c.(2602-2604)GGC>GGT	p.G868G	PCNX_uc001xmn.3_Intron|PCNX_uc010are.1_Intron	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	868						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTGCTGTAGGCGGTAGCAGTT	0.468													T	71462617	C	T	71462617	2	4	20	1	0	0	0	0	0	0	0	1	11591	755	27	1		1	PCNX	14	71462617	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	537632	71462617	35886923	1434	19105											
RGS6	9628	broad.mit.edu	37	chr14	72924983	72924983	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcactgttcttacagttgaAgcaatacacttggggagcct	10	9	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:72924983A>G	uc001xna.3	+	5	763	c.240A>G	c.(238-240)GAA>GAG	p.E80E	RGS6_uc010ttn.1_Silent_p.E80E|RGS6_uc001xmx.3_Silent_p.E80E|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Silent_p.E80E|RGS6_uc010ttp.1_Silent_p.E11E|RGS6_uc001xmz.1_5'Flank|RGS6_uc010arg.2_RNA	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	80	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTACAGTTGAAGCAATACACT	0.458													G	72924983	A	G	72924983	2	3	20	1	0	0	0	0	0	0	0	1	13309	69	3	3		3	RGS6	14	72924983	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1462366	72924983	34424557	1435	19106											
HEATR4	399671	broad.mit.edu	37	chr14	73985802	73985802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatagctgcttgttgtaccGatttaggttttccaggacaa	10	7	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:73985802G>A	uc010tub.1	-	5	1457	c.1135C>T	c.(1135-1137)CGG>TGG	p.R379W	HEATR4_uc010tua.1_Missense_Mutation_p.R332W	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)		TTGTTGTACCGATTTAGGTTT	0.458													A	73985802	G	A	73985802	3	1	20	1	0	0	0	0	1	0	0	0	7030	1057	37	1	2001	1	HEATR4	14	73985802	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1060819	73985802	33363738	1436	19107											
FAM161B	145483	broad.mit.edu	37	chr14	74401052	74401052	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttctagagatccttctaaAccctgctctggatctctgat	7	11	4	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:74401052A>G	uc001xpd.1	-	9	1957	c.1851T>C	c.(1849-1851)GGT>GGC	p.G617G		NM_152445	NP_689658			hypothetical protein LOC145483											ovary(1)	1						ATCCTTCTAAACCCTGCTCTG	0.368													G	74401052	A	G	74401052	2	3	20	1	0	0	0	0	0	0	0	1	5473	30	2	3		3	FAM161B	14	74401052	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	415250	74401052	32948488	1437	19108											
KIAA0317	9870	broad.mit.edu	37	chr14	75130505	75130505	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcataggagtcatatgtaGggaggcacagctggttaaaa	12	6	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:75130505G>T	uc001xqb.2	-	20	2895	c.2390C>A	c.(2389-2391)CCT>CAT	p.P797H		NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	797	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)		GTCATATGTAGGGAGGCACAG	0.532													T	75130505	G	T	75130505	3	4	20	1	0	0	0	0	1	0	0	0	8167	1000	35	5	85	5	KIAA0317	14	75130505	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	729453	75130505	32219035	1438	19109											
RPS6KL1	83694	broad.mit.edu	37	chr14	75373805	75373805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctcccatgcccaggcgcCgggtaggctcgaactgcagc	12	16	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:75373805C>T	uc010tux.1	-	11	2090	c.1562G>A	c.(1561-1563)CGG>CAG	p.R521Q	RPS6KL1_uc001xqx.1_3'UTR|RPS6KL1_uc001xqw.2_Missense_Mutation_p.R490Q|RPS6KL1_uc010asd.1_RNA	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	521	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GCCCAGGCGCCGGGTAGGCTC	0.602													T	75373805	C	T	75373805	3	4	20	1	0	0	0	0	1	0	0	0	13659	652	23	1	164	1	RPS6KL1	14	75373805	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	243300	75373805	31975735	1439	19110											
RPS6KL1	83694	broad.mit.edu	37	chr14	75376763	75376763	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggtgggggttgagctgAgccttcatcctctcctgggt	15	9	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:75376763A>C	uc010tux.1	-	7	1281	c.753T>G	c.(751-753)GCT>GCG	p.A251A	RPS6KL1_uc001xqx.1_Silent_p.A3A|RPS6KL1_uc001xqw.2_Silent_p.A220A|RPS6KL1_uc010asd.1_RNA	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	251	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GGTTGAGCTGAGCCTTCATCC	0.642													C	75376763	A	C	75376763	2	2	20	1	0	0	0	0	0	0	0	1	13659	291	11	5		5	RPS6KL1	14	75376763	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2958	75376763	31972777	1440	19111											
NEK9	91754	broad.mit.edu	37	chr14	75580066	75580066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtttcctgagaagagggCgatctagaagttcatctgca	12	8	3	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:75580066C>T	uc001xrl.2	-	8	1068	c.914G>A	c.(913-915)CGC>CAC	p.R305H	NEK9_uc001xrk.2_5'UTR	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	305	Protein kinase.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(2)|stomach(2)|ovary(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00718)		GAGAAGAGGGCGATCTAGAAG	0.398													T	75580066	C	T	75580066	3	4	20	1	0	0	0	0	1	0	0	0	10331	768	27	1	2085	1	NEK9	14	75580066	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	203303	75580066	31769474	1441	19112											
KIAA1737	85457	broad.mit.edu	37	chr14	77576173	77576173	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgggagctcggaatgtcTgagctctgcagagcagatgg	16	7	2	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:77576173T>C	uc001xtd.2	+	3	334	c.155T>C	c.(154-156)CTG>CCG	p.L52P	KIAA1737_uc001xtc.1_5'UTR	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	KIAA1737 protein	52											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		TCGGAATGTCTGAGCTCTGCA	0.443													C	77576173	T	C	77576173	3	2	20	1	0	0	0	0	1	0	0	0	8255	1580	55	3	161	3	KIAA1737	14	77576173	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1996107	77576173	29773367	1442	19113											
GSTZ1	2954	broad.mit.edu	37	chr14	77794336	77794336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagaagagggccagcgtgCgtatgatttctgacctcatc	11	10	2	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:77794336C>T	uc001xtj.2	+	5	580	c.298C>T	c.(298-300)CGT>TGT	p.R100C	GSTZ1_uc001xtk.2_Intron|GSTZ1_uc010ass.2_Missense_Mutation_p.R45C|GSTZ1_uc001xtm.2_Missense_Mutation_p.R45C	NM_145870	NP_665877	O43708	MAAI_HUMAN	glutathione transferase zeta 1 isoform 1	100	GST C-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	GGCCAGCGTGCGTATGATTTC	0.567													T	77794336	C	T	77794336	3	4	20	1	0	0	0	0	1	0	0	0	6848	768	27	1	316	1	GSTZ1	14	77794336	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	218163	77794336	29555204	1443	19114											
NRXN3	9369	broad.mit.edu	37	chr14	79175585	79175585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttataagaataatgacatccGtctggagctgtctcgcctgg	10	9	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:79175585G>A	uc001xun.2	+	4	619	c.128G>A	c.(127-129)CGT>CAT	p.R43H	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.R177H	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	416	Laminin G-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AATGACATCCGTCTGGAGCTG	0.468													A	79175585	G	A	79175585	3	1	20	1	0	0	0	0	1	0	0	0	10667	1145	40	1	134	1	NRXN3	14	79175585	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1381249	79175585	28173955	1444	19115											
NRXN3	9369	broad.mit.edu	37	chr14	80164262	80164262	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacaacccgtaagaatcgCtctacagccagcattcaggt	7	14	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:80164262C>T	uc001xun.2	+	15	3278	c.2787C>T	c.(2785-2787)CGC>CGT	p.R929R	NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Silent_p.R297R|NRXN3_uc010asw.2_Silent_p.R327R|NRXN3_uc001xur.3_Silent_p.R297R	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1302	Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTAAGAATCGCTCTACAGCCA	0.418													T	80164262	C	T	80164262	2	4	20	1	0	0	0	0	0	0	0	1	10667	784	28	2		2	NRXN3	14	80164262	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	988677	80164262	27185278	1445	19116											
EML5	161436	broad.mit.edu	37	chr14	89091345	89091345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccccagtcacgataagtcCatctcgcagggtggtgtaca	10	13	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:89091345C>T	uc001xxg.2	-	36	5053	c.4867G>A	c.(4867-4869)GGA>AGA	p.G1623R	EML5_uc001xxf.2_Missense_Mutation_p.G410R|EML5_uc001xxh.1_Missense_Mutation_p.G754R	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	1615	WD 24.					cytoplasm|microtubule				ovary(3)	3						ACGATAAGTCCATCTCGCAGG	0.463													T	89091345	C	T	89091345	3	4	20	1	0	0	0	0	1	0	0	0	5100	603	21	4	1102	4	EML5	14	89091345	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	8927083	89091345	18258195	1446	19117											
EML5	161436	broad.mit.edu	37	chr14	89202717	89202717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttgcttacctgaccgaaCgatcatcacttccagtcaca	5	13	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:89202717C>T	uc001xxg.2	-	8	1226	c.1040G>A	c.(1039-1041)CGT>CAT	p.R347H		NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	347	WD 7.					cytoplasm|microtubule				ovary(3)	3						CCTGACCGAACGATCATCACT	0.328													T	89202717	C	T	89202717	3	4	20	1	0	0	0	0	1	0	0	0	5100	536	19	1	5041	1	EML5	14	89202717	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	111372	89202717	18146823	1447	19118											
C14orf102	55051	broad.mit.edu	37	chr14	90783003	90783003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcggtgtctgtctcagacCtgctgctactcgacggccca	10	14	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:90783003C>T	uc001xyi.1	-	3	357	c.326G>A	c.(325-327)AGG>AAG	p.R109K	C14orf102_uc001xyj.1_Intron	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	109	Poly-Ser.|Potential.						protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		TGTCTCAGACCTGCTGCTACT	0.313													T	90783003	C	T	90783003	3	4	20	1	0	0	0	0	1	0	0	0	1735	681	24	4	3216	4	C14orf102	14	90783003	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1580286	90783003	16566537	1448	19119											
TC2N	123036	broad.mit.edu	37	chr14	92258779	92258779	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctaagggttctgagtgAcattgagcattctccaatgg	12	7	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:92258779A>G	uc001xzu.3	-	9	1170	c.979T>C	c.(979-981)TCA>CCA	p.S327P	TC2N_uc001xzt.3_Missense_Mutation_p.S327P|TC2N_uc010auc.2_Intron|TC2N_uc001xzv.3_Missense_Mutation_p.S327P	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	327						nucleus				upper_aerodigestive_tract(1)	1				COAD - Colon adenocarcinoma(157;0.218)		GTTCTGAGTGACATTGAGCAT	0.343													G	92258779	A	G	92258779	3	3	20	1	0	0	0	0	1	0	0	0	15662	275	10	3	509	3	TC2N	14	92258779	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1475776	92258779	15090761	1449	19120											
COX8C	341947	broad.mit.edu	37	chr14	93814398	93814398	+	Frame_Shift_Del	DEL	T	T	-													tggctgttggacttgtggtgTtttttacgaccttcttaaca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:93814397_93814397GT>G	uc001ybt.1	+	1	228	c.150_150GT>G	c.(148-150)gtgfs	p.V50fs	UNC79_uc001ybs.1_Intron	NM_182971	NP_892016	Q7Z4L0	COX8C_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIIC (COX8C), nuclear gene encoding mitochondrial protein, mRNA.	50						integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity			large_intestine(1)|lung(1)|prostate(2)|skin(1)	5		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		GACTTGTGGTGTTTTTTACGA	0.453													-	93814398	T	-	93814398	7	5	20	1	0	1	0	1	0	0	0	0	3786	1725	60	0	157	0	COX8C	14	93814398	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	1555619	93814398	13535142	1450	19121											
IFI27L1	122509	broad.mit.edu	37	chr14	94568188	94568188	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggactgtgctcgtggcGctcagtgccatgggcttcac	16	11	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:94568188G>A	uc001ycl.2	+	4	298	c.90G>A	c.(88-90)GCG>GCA	p.A30A	IFI27L1_uc001yck.2_Silent_p.A30A	NM_206949	NP_996832	Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	30	Helical; (Potential).					integral to membrane					0						TGCTCGTGGCGCTCAGTGCCA	0.612													A	94568188	G	A	94568188	2	1	20	1	0	0	0	0	0	0	0	1	7513	1074	38	1		1	IFI27L1	14	94568188	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	753790	94568188	12781352	1451	19122											
ATG2B	55102	broad.mit.edu	37	chr14	96794874	96794874	+	Splice_Site	DEL	T	T	-													taagtcttgcttgattacccTtttaaaaaaaaaaaagaaaa							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:96794873_96794873CT>C	uc001yfi.3	-	14	2340	c.1975_splice	c.e14-1	p.G659_splice		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	659										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTTGATTACCCTTTTAAAAAA	0.294													-	96794874	T	-	96794874	8	5	20	1	0	1	0	1	0	0	1	0	1094	1623	56	0	4379	0	ATG2B	14	96794874	Splice_Site	DEL	T	TCGA-BR-4362-01A-01D-1158-08	2226686	96794874	10554666	1452	19123											
EML1	2009	broad.mit.edu	37	chr14	100380551	100380551	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccaatacggacagtggcCgaggggaaaggcgatgtgat	17	7	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:100380551C>T	uc001ygs.2	+	14	1599	c.1530C>T	c.(1528-1530)GCC>GCT	p.A510A	EML1_uc010tww.1_Silent_p.A498A|EML1_uc001ygr.2_Silent_p.A529A	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	510						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GGACAGTGGCCGAGGGGAAAG	0.453													T	100380551	C	T	100380551	2	4	20	1	0	0	0	0	0	0	0	1	5096	639	23	1		1	EML1	14	100380551	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	3585677	100380551	6968989	1453	19124											
YY1	7528	broad.mit.edu	37	chr14	100728744	100728744	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgacaggaaagaaacttccTcctggaggaatacctggcat	10	9	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:100728744T>C	uc001ygy.1	+	2	1263	c.783T>C	c.(781-783)CCT>CCC	p.P261P		NM_003403	NP_003394	P25490	TYY1_HUMAN	YY1 transcription factor	261	Involved in nuclear matrix association.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding				0		Melanoma(154;0.152)				AGAAACTTCCTCCTGGAGGAA	0.368													C	100728744	T	C	100728744	2	2	20	1	0	0	0	0	0	0	0	1	17504	1538	54	3		3	YY1	14	100728744	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	348193	100728744	6620796	1454	19125											
ZNF839	55778	broad.mit.edu	37	chr14	102792994	102792994	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcagacttgtgaaaagTcatatatagggaagggggga	15	3	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:102792994T>C	uc001ylo.2	+	2	963	c.613T>C	c.(613-615)TCA>CCA	p.S205P	ZNF839_uc010awk.1_Missense_Mutation_p.S321P|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Missense_Mutation_p.S205P|ZNF839_uc001ylr.2_Missense_Mutation_p.S205P	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	zinc finger protein 839	205	C2H2-type.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)	2						TTGTGAAAAGTCATATATAGG	0.512													C	102792994	T	C	102792994	3	2	20	1	0	0	0	0	1	0	0	0	18185	1667	58	3	967	3	ZNF839	14	102792994	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2064250	102792994	4556546	1455	19126											
C14orf73	91828	broad.mit.edu	37	chr14	103571411	103571411	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgcctgcgaggagctcaggTagggctcgcccgctcctgtg	15	14	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:103571411T>C	uc001ymk.2	+	6	1542	c.1466_splice	c.e6+2	p.R489_splice		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	hypothetical protein LOC91828												0		Melanoma(154;0.155)	Epithelial(46;0.221)			GGAGCTCAGGTAGGGCTCGCC	0.711											OREG0022947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	103571411	T	C	103571411	5	2	20	1	0	0	0	0	0	0	1	0	1779	1652	57	3	1490	3	C14orf73	14	103571411	Splice_Site	SNP	T	TCGA-BR-4362-01A-01D-1158-08	778417	103571411	3778129	1456	19127											
EIF5	1983	broad.mit.edu	37	chr14	103802217	103802217	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgtctgtcaatgtcaaccGcagcgtgtcagaccagttct	9	11	5	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:103802217G>T	uc001ymq.2	+	3	542	c.20G>T	c.(19-21)CGC>CTC	p.R7L	EIF5_uc001ymr.2_Missense_Mutation_p.R7L|EIF5_uc001yms.2_Missense_Mutation_p.R7L|EIF5_uc001ymt.2_Missense_Mutation_p.R7L|EIF5_uc001ymu.2_Missense_Mutation_p.R7L|SNORA28_uc001ymv.1_5'Flank	NM_001969	NP_001960	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	7					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			pancreas(1)|breast(1)|skin(1)	3		Melanoma(154;0.155)	Epithelial(46;0.182)			AATGTCAACCGCAGCGTGTCA	0.388													T	103802217	G	T	103802217	3	4	20	1	0	0	0	0	1	0	0	0	5040	1087	38	5	22	5	EIF5	14	103802217	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	230806	103802217	3547323	1457	19128											
EIF5	1983	broad.mit.edu	37	chr14	103802238	103802238	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtgtcagaccagttctAtcgctacaagatgccccgtc	9	14	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:103802238A>G	uc001ymq.2	+	3	563	c.41A>G	c.(40-42)TAT>TGT	p.Y14C	EIF5_uc001ymr.2_Missense_Mutation_p.Y14C|EIF5_uc001yms.2_Missense_Mutation_p.Y14C|EIF5_uc001ymt.2_Missense_Mutation_p.Y14C|EIF5_uc001ymu.2_Missense_Mutation_p.Y14C|SNORA28_uc001ymv.1_5'Flank	NM_001969	NP_001960	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	14					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			pancreas(1)|breast(1)|skin(1)	3		Melanoma(154;0.155)	Epithelial(46;0.182)			GACCAGTTCTATCGCTACAAG	0.388													G	103802238	A	G	103802238	3	3	20	1	0	0	0	0	1	0	0	0	5040	449	16	3	43	3	EIF5	14	103802238	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	21	103802238	3547302	1458	19129											
KLC1	3831	broad.mit.edu	37	chr14	104129110	104129110	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatccccgcgcggctgcggAcgctccacaacctggtgatc	12	16	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:104129110A>G	uc001yno.2	+	5	951	c.643A>G	c.(643-645)ACG>GCG	p.T215A	KLC1_uc010tyd.1_Missense_Mutation_p.T374A|KLC1_uc010tye.1_Missense_Mutation_p.T211A|KLC1_uc001ynm.1_Missense_Mutation_p.T215A|KLC1_uc001ynn.1_Missense_Mutation_p.T211A|KLC1_uc010tyf.1_Missense_Mutation_p.T215A	NM_182923	NP_891553	Q07866	KLC1_HUMAN	kinesin light chain 1 isoform 2	215	TPR 1.				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0		Melanoma(154;0.155)|all_epithelial(191;0.19)				GCGGCTGCGGACGCTCCACAA	0.657													G	104129110	A	G	104129110	3	3	20	1	0	0	0	0	1	0	0	0	8333	275	10	3	657	3	KLC1	14	104129110	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	326872	104129110	3220430	1459	19130											
AHNAK2	113146	broad.mit.edu	37	chr14	105406625	105406625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtcttgaaagctaccccCtgctgtggcactagaaaggg	12	10	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:105406625C>T	uc010axc.1	-	7	15283	c.15163G>A	c.(15163-15165)GGG>AGG	p.G5055R	AHNAK2_uc001ypx.2_Missense_Mutation_p.G4955R	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5055						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)			AAGCTACCCCCTGCTGTGGCA	0.542													T	105406625	C	T	105406625	3	4	20	1	0	0	0	0	1	0	0	0	415	681	24	4	2228	4	AHNAK2	14	105406625	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1277515	105406625	1942915	1460	19131											
AHNAK2	113146	broad.mit.edu	37	chr14	105410125	105410125	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaactgggcatctgcaccTtgggcaggtgtcctttgagg	14	9	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:105410125T>G	uc010axc.1	-	7	11783	c.11663A>C	c.(11662-11664)AAG>ACG	p.K3888T	AHNAK2_uc001ypx.2_Missense_Mutation_p.K3788T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3888						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)			CATCTGCACCTTGGGCAGGTG	0.592													G	105410125	T	G	105410125	3	3	20	1	0	0	0	0	1	0	0	0	415	1609	56	5	5728	5	AHNAK2	14	105410125	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3500	105410125	1939415	1461	19132											
NDN	4692	broad.mit.edu	37	chr15	23931581	23931581	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggctggcccgggagccccAaaagaactcgtattcgggcg	15	13	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:23931581A>G	uc001ywk.2	-	1	870	c.784T>C	c.(784-786)TGG>CGG	p.W262R		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	262	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGGGAGCCCCAAAAGAACTCG	0.577									Prader-Willi_syndrome				G	23931581	A	G	23931581	3	3	20	1	0	0	0	0	1	0	0	0	10247	130	5	3	185	3	NDN	15	23931581	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08		23931581	78599811	1462	19133											
SNRPN	6638	broad.mit.edu	37	chr15	25220628	25220628	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcatatgaatttgatcctcTgtgattgtgatgagttcaga	10	5	2	6			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:25220628T>C	uc001ywp.1	+	8	1017	c.127T>C	c.(127-129)TGT>CGT	p.C43R	SNRPN_uc001ywq.1_Missense_Mutation_p.C43R|SNRPN_uc001ywr.1_Missense_Mutation_p.C43R|SNRPN_uc001yws.1_Missense_Mutation_p.C43R|SNRPN_uc001ywt.1_Missense_Mutation_p.C43R|SNRPN_uc001ywv.1_Missense_Mutation_p.C46R|SNRPN_uc001yww.1_Missense_Mutation_p.C43R|SNRPN_uc001ywx.1_Missense_Mutation_p.C43R|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	NM_022807	NP_073718	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	43				Missing (in Ref. 8).	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TTTGATCCTCTGTGATTGTGA	0.463									Prader-Willi_syndrome				C	25220628	T	C	25220628	3	2	20	1	0	0	0	0	1	0	0	0	14870	1580	55	3	133	3	SNRPN	15	25220628	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1289047	25220628	77310764	1463	19134											
OCA2	4948	broad.mit.edu	37	chr15	28202861	28202861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcagtcaggcgccagaCgtgaatctcgtgcttcagtt	12	11	3	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:28202861C>T	uc001zbh.3	-	16	1767	c.1657G>A	c.(1657-1659)GTC>ATC	p.V553I	OCA2_uc010ayv.2_Missense_Mutation_p.V529I	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	553	Cytoplasmic (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGCGCCAGACGTGAATCTCG	0.617									Oculocutaneous_Albinism				T	28202861	C	T	28202861	3	4	20	1	0	0	0	0	1	0	0	0	10815	536	19	1	895	1	OCA2	15	28202861	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2982233	28202861	74328531	1464	19135											
HERC2	8924	broad.mit.edu	37	chr15	28413691	28413691	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaacgaggggcactccacCggggcgatcatggcggccgg	18	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:28413691C>T	uc001zbj.2	-	67	10381	c.10275G>A	c.(10273-10275)CCG>CCA	p.P3425P		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3425					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGCACTCCACCGGGGCGATCA	0.617													T	28413691	C	T	28413691	2	4	20	1	0	0	0	0	0	0	0	1	7058	639	23	1		1	HERC2	15	28413691	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	210830	28413691	74117701	1465	19136											
FMN1	342184	broad.mit.edu	37	chr15	33261050	33261050	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggggaggtgggggtgcaAgtcctgggggtggtggagca	24	5	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:33261050A>C	uc001zhf.3	-	4	2183	c.2183T>G	c.(2182-2184)CTT>CGT	p.L728R		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	951	FH1.|Pro-rich.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TGGGGGTGCAAGTCCTGGGGG	0.537													C	33261050	A	C	33261050	3	2	20	1	0	0	0	0	1	0	0	0	5949	72	3	5	1463	5	FMN1	15	33261050	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	4847359	33261050	69270342	1466	19137											
RYR3	6263	broad.mit.edu	37	chr15	34064222	34064222	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacttcagaaaacctgaaacTtgggaagttcacccattccc	7	12	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:34064222T>G	uc001zhi.2	+	63	8988	c.8918T>G	c.(8917-8919)CTT>CGT	p.L2973R	RYR3_uc010bar.2_Missense_Mutation_p.L2973R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2973	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AACCTGAAACTTGGGAAGTTC	0.463													G	34064222	T	G	34064222	3	3	20	1	0	0	0	0	1	0	0	0	13770	1609	56	5	9168	5	RYR3	15	34064222	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	803172	34064222	68467170	1467	19138											
SPRED1	161742	broad.mit.edu	37	chr15	38643558	38643558	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atactgccaggaaaggtttaAtcatgaagaaaatgttaggg	11	4	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:38643558A>G	uc001zka.3	+	7	1363	c.1028A>G	c.(1027-1029)AAT>AGT	p.N343S		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	343	SPR.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GAAAGGTTTAATCATGAAGAA	0.398									Legius_syndrome				G	38643558	A	G	38643558	3	3	20	1	0	0	0	0	1	0	0	0	15091	101	4	3	1054	3	SPRED1	15	38643558	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	4579336	38643558	63887834	1468	19139											
PAK6	56924	broad.mit.edu	37	chr15	40564623	40564623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccccagcgggatcccccCgcacctggcacgcccagatc	9	21	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:40564623C>T	uc010bbl.2	+	6	1497	c.1057C>T	c.(1057-1059)CGC>TGC	p.R353C	PAK6_uc010bbm.2_Missense_Mutation_p.R353C|PAK6_uc001zky.3_Missense_Mutation_p.R353C|PAK6_uc010bbn.2_Missense_Mutation_p.R353C|PAK6_uc001zlb.2_Missense_Mutation_p.R353C	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	353	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(5)|large_intestine(1)|ovary(1)|skin(1)	8		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GGGATCCCCCCGCACCTGGCA	0.677													T	40564623	C	T	40564623	3	4	20	1	0	0	0	0	1	0	0	0	11404	652	23	1	1067	1	PAK6	15	40564623	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1921065	40564623	61966769	1469	19140											
PLCB2	5330	broad.mit.edu	37	chr15	40590804	40590804	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acgagttgatgaagtaatgaTtgagtggctgcgtcatgtcg	14	5	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:40590804T>A	uc001zld.2	-	10	1257	c.956A>T	c.(955-957)AAT>ATT	p.N319I	PLCB2_uc010bbo.2_Missense_Mutation_p.N319I|PLCB2_uc010ucm.1_Missense_Mutation_p.N319I	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	319	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GAAGTAATGATTGAGTGGCTG	0.562													A	40590804	T	A	40590804	3	1	20	1	0	0	0	0	1	0	0	0	12028	1493	52	5	2693	5	PLCB2	15	40590804	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	26181	40590804	61940588	1470	19141											
C15orf52	388115	broad.mit.edu	37	chr15	40630826	40630826	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctctatgccttggttcctTgctctggtaggcttttcact	8	13	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:40630826T>G	uc001zlh.3	-	5	571	c.555A>C	c.(553-555)GCA>GCC	p.A185A	C15orf52_uc001zli.1_Silent_p.A117A|C15orf52_uc010ucn.1_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	hypothetical protein LOC388115	185										large_intestine(1)	1		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CTTGGTTCCTTGCTCTGGTAG	0.602											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	40630826	T	G	40630826	2	3	20	1	0	0	0	0	0	0	0	1	1800	1799	63	5		5	C15orf52	15	40630826	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	40022	40630826	61900566	1471	19142											
CASC5	57082	broad.mit.edu	37	chr15	40911163	40911163	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttctaaatagggatgaAcacattgctttctgctccca	6	9	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:40911163A>G	uc010bbs.1	+	10	568	c.407A>G	c.(406-408)AAC>AGC	p.N136S	CASC5_uc010ucq.1_Intron|CASC5_uc001zme.2_Missense_Mutation_p.N110S|CASC5_uc010bbt.1_Missense_Mutation_p.N110S	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	136	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ATAGGGATGAACACATTGCTT	0.333													G	40911163	A	G	40911163	3	3	20	1	0	0	0	0	1	0	0	0	2663	43	2	3	441	3	CASC5	15	40911163	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	280337	40911163	61620229	1472	19143											
CASC5	57082	broad.mit.edu	37	chr15	40917332	40917333	+	Frame_Shift_Del	DEL	AA	AA	-													atagtagagatgaggaaaatAaaaagtctcataatggagct							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:40917332_40917333delAA	uc010bbs.1	+	11	5109_5110	c.4948_4949delAA	c.(4948-4950)AAAfs	p.K1650fs	CASC5_uc010ucq.1_Frame_Shift_Del_p.K1474fs|CASC5_uc001zme.2_Frame_Shift_Del_p.K1624fs|CASC5_uc010bbt.1_Frame_Shift_Del_p.K1624fs	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	1650					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TGAGGAAAATAAAAAGTCTCAT	0.342													-	40917333	AA	-	40917332	7	5	20	1	0	1	0	1	0	0	0	0	2663	363	13	0	4986	0	CASC5	15	40917332	Frame_Shift_Del	DEL	AA	TCGA-BR-4362-01A-01D-1158-08	6169	40917332	61614060	1473	19144											
VPS18	57617	broad.mit.edu	37	chr15	41192619	41192619	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccccgccacaaagagTggctctttgccagccgggcc	12	17	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:41192619T>A	uc001zne.2	+	4	1942	c.1603T>A	c.(1603-1605)TGG>AGG	p.W535R		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	535					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCACAAAGAGTGGCTCTTTGC	0.587													A	41192619	T	A	41192619	3	1	20	1	0	0	0	0	1	0	0	0	17191	1696	59	5	1617	5	VPS18	15	41192619	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	275287	41192619	61338773	1474	19145											
MGA	23269	broad.mit.edu	37	chr15	42019391	42019392	+	Frame_Shift_Del	DEL	AG	AG	-													tgttaagctatatgtgagacAgagcctgaacagcctgttcg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:42019390_42019391CAG>C	uc010ucy.2	+	9	3624_3625	c.3443_3444CAG>C	c.(3442-3444)acafs	p.T1148fs	MGA_uc010ucz.2_Frame_Shift_Del_p.T1148fs	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1148						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ATATGTGAGACAGAGCCTGAAC	0.421													-	42019392	AG	-	42019391	7	5	20	1	0	1	0	1	0	0	0	0	9540	175	7	0	3478	0	MGA	15	42019391	Frame_Shift_Del	DEL	AG	TCGA-BR-4362-01A-01D-1158-08	826772	42019391	60512001	1475	19146											
SPTBN5	51332	broad.mit.edu	37	chr15	42148707	42148707	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcggccacctcgtgggcGgcaaagtgcccagcctgcac	15	16	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:42148707G>A	uc001zos.2	-	53	9126	c.8793C>T	c.(8791-8793)GCC>GCT	p.A2931A		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2966	Spectrin 26.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCTCGTGGGCGGCAAAGTGCC	0.701													A	42148707	G	A	42148707	2	1	20	1	0	0	0	0	0	0	0	1	15121	1103	39	1		1	SPTBN5	15	42148707	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	129316	42148707	60382685	1476	19147											
GANC	2595	broad.mit.edu	37	chr15	42632113	42632114	+	Splice_Site	INS	-	-	A													tcccaacctgtcatgaggtaINSaaaaagcttcatccattcag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:42632112_42632113T>TA	uc001zpi.3	+	17	2401	c.2087_splice	c.e17+2	p.R696_splice		NM_198141	NP_937784	Q8TET4	GANC_HUMAN	Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA.	696					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TGTCATGAGGTAAAAAAGCTTC	0.45													A	42632114	-	A	42632113	8	5	20	1	0	1	1	0	0	0	1	0	6234	377	13	0		0	GANC	15	42632113	Splice_Site	INS	-	TCGA-BR-4362-01A-01D-1158-08	483406	42632113	59899279	1477	19148											
GANC	2595	broad.mit.edu	37	chr15	42641615	42641615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagttatatcttgatgatgGccattcattccaatacctcc	6	10	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:42641615G>A	uc001zpi.2	+	22	2767	c.2453G>A	c.(2452-2454)GGC>GAC	p.G818D	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_5'UTR	NM_198141	NP_937784	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	818					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			central_nervous_system(2)	2		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		CTTGATGATGGCCATTCATTC	0.398													A	42641615	G	A	42641615	3	1	20	1	0	0	0	0	1	0	0	0	6234	1203	42	2	2539	2	GANC	15	42641615	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	9502	42641615	59889777	1478	19149											
ZFP106	64397	broad.mit.edu	37	chr15	42734562	42734562	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctactgttccttcgttctcGtgtgaggctacagggaacct	10	11	2	1	rs141505106	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:42734562G>A	uc001zpw.2	-	7	3738	c.3403C>T	c.(3403-3405)CGA>TGA	p.R1135*	ZFP106_uc001zpu.2_Nonsense_Mutation_p.R320*|ZFP106_uc001zpv.2_Nonsense_Mutation_p.R320*|ZFP106_uc001zpx.2_Nonsense_Mutation_p.R363*	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	1135						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		CTTCGTTCTCGTGTGAGGCTA	0.448													A	42734562	G	A	42734562	4	1	20	1	0	0	0	0	0	1	0	0	17634	1153	40	1	2300	1	ZFP106	15	42734562	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	92947	42734562	59796830	1479	19150											
LCMT2	9836	broad.mit.edu	37	chr15	43622543	43622543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcggtgaatgagcggtgCgcggcgcgccgcgcccggaa	18	14	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:43622543C>T	uc001zrg.2	-	1	349	c.145G>A	c.(145-147)GCA>ACA	p.A49T	LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	49					tRNA processing		methyltransferase activity|protein binding				0		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	ATGAGCGGTGCGCGGCGCGCC	0.711													T	43622543	C	T	43622543	3	4	20	1	0	0	0	0	1	0	0	0	8679	768	27	1	1919	1	LCMT2	15	43622543	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	887981	43622543	58908849	1480	19151											
ELL3	80237	broad.mit.edu	37	chr15	44065384	44065384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggacaatttctggtgaaggTactcacagcgacgcttttct	11	9	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:44065384T>C	uc001zsw.1	-	11	1527	c.1124A>G	c.(1123-1125)TAC>TGC	p.Y375C	ELL3_uc001zsv.1_Missense_Mutation_p.Y329C|ELL3_uc001zsx.1_Missense_Mutation_p.Y259C	NM_025165	NP_079441	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	375					positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				ovary(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CTGGTGAAGGTACTCACAGCG	0.428													C	44065384	T	C	44065384	3	2	20	1	0	0	0	0	1	0	0	0	5064	1638	57	3	73	3	ELL3	15	44065384	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	442841	44065384	58466008	1481	19152											
SPG11	80208	broad.mit.edu	37	chr15	44944003	44944003	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgaaggcccagctctgcAcacttgtactgtggttacca	10	11	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:44944003A>G	uc001ztx.2	-	6	1173	c.1142T>C	c.(1141-1143)GTG>GCG	p.V381A	SPG11_uc010ueh.1_Missense_Mutation_p.V381A|SPG11_uc010uei.1_Missense_Mutation_p.V381A|SPG11_uc001zua.1_Missense_Mutation_p.V381A	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	381	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CCAGCTCTGCACACTTGTACT	0.438													G	44944003	A	G	44944003	3	3	20	1	0	0	0	0	1	0	0	0	15040	159	6	3	6329	3	SPG11	15	44944003	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	878619	44944003	57587389	1482	19153											
B2M	567	broad.mit.edu	37	chr15	45003781	45003782	+	Frame_Shift_Del	DEL	CT	CT	-													ccttagctgtgctcgcgctaCtctctctttctggcctggag					rs11553044		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:45003780_45003781ACT>A	uc001zuc.3	+	0	96_97	c.36_37ACT>A	c.(34-39)ctactcfs	p.L12fs	B2M_uc010uek.1_Frame_Shift_Del_p.L12fs|B2M_uc010bdx.1_Frame_Shift_Del_p.L12fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	12					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.L15fs*41(4)|p.A11fs*42(2)|p.L13F(2)|p.L12Q(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TGCTCGCGCTACTCTCTCTTTC	0.614													-	45003782	CT	-	45003781	7	5	20	1	0	1	0	1	0	0	0	0	1244	565	20	0	39	0	B2M	15	45003781	Frame_Shift_Del	DEL	CT	TCGA-BR-4362-01A-01D-1158-08	59778	45003781	57527611	1483	19154											
TRIM69	140691	broad.mit.edu	37	chr15	45059837	45059837	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaggacagttgtccttctAcaatgctaaaaccatgactc	8	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:45059837A>G	uc001zuf.2	+	8	2265	c.1370A>G	c.(1369-1371)TAC>TGC	p.Y457C	TRIM69_uc001zui.1_Missense_Mutation_p.Y253C|TRIM69_uc010bdy.1_Missense_Mutation_p.Y236C|TRIM69_uc001zug.1_Missense_Mutation_p.Y457C|TRIM69_uc001zuh.1_Missense_Mutation_p.Y298C	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	tripartite motif-containing 69 isoform a	457	B30.2/SPRY.				apoptosis	nuclear speck	zinc ion binding				0		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TTGTCCTTCTACAATGCTAAA	0.433													G	45059837	A	G	45059837	3	3	20	1	0	0	0	0	1	0	0	0	16539	391	14	3	1396	3	TRIM69	15	45059837	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	56056	45059837	57471555	1484	19155											
SLC12A1	6557	broad.mit.edu	37	chr15	48543969	48543969	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgacttgtaagaagccaggTaagataatgactgtctggaa	12	5	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:48543969T>G	uc001zwn.3	+	15	2158	c.1942_splice	c.e15+2	p.D648_splice	SLC12A1_uc010uew.1_Splice_Site_p.D454_splice|SLC12A1_uc010bem.2_Splice_Site_p.D648_splice|SLC12A1_uc001zwq.3_Splice_Site_p.D419_splice|SLC12A1_uc001zwr.3_Splice_Site_p.D375_splice	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2						potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AGAAGCCAGGTAAGATAATGA	0.308													G	48543969	T	G	48543969	5	3	20	1	0	0	0	0	0	0	1	0	14382	1652	57	5	2098	5	SLC12A1	15	48543969	Splice_Site	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3484132	48543969	53987423	1485	19156											
FBN1	2200	broad.mit.edu	37	chr15	48725097	48725097	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtcttctctgagcacataTcccacgggacatttgcattc	8	13	2	1	rs150858138	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:48725097T>C	uc001zwx.1	-	55	7033	c.6705A>G	c.(6703-6705)GGA>GGG	p.G2235G	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2235	EGF-like 38; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGAGCACATATCCCACGGGAC	0.478													C	48725097	T	C	48725097	2	2	20	1	0	0	0	0	0	0	0	1	5702	1422	50	3		3	FBN1	15	48725097	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	181128	48725097	53806295	1486	19157											
FBN1	2200	broad.mit.edu	37	chr15	48936816	48936816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctttaccctttaagcgcgtCgtgtcctccaccgcctcttc	6	18	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:48936816C>T	uc001zwx.1	-	2	479	c.151G>A	c.(151-153)GAC>AAC	p.D51N		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	51					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTAAGCGCGTCGTGTCCTCCA	0.577													T	48936816	C	T	48936816	3	4	20	1	0	0	0	0	1	0	0	0	5702	884	31	1	8724	1	FBN1	15	48936816	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	211719	48936816	53594576	1487	19158											
KIAA1370	56204	broad.mit.edu	37	chr15	52901974	52901974	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatcacaatgaatcaaatgTtgggcaattcttgcaatgat	9	6	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:52901974T>C	uc002acg.3	-	6	1290	c.1137A>G	c.(1135-1137)CAA>CAG	p.Q379Q	KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Silent_p.Q291Q|KIAA1370_uc010ugf.1_Silent_p.Q386Q	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	379											0				all cancers(107;0.0803)		GAATCAAATGTTGGGCAATTC	0.423													C	52901974	T	C	52901974	2	2	20	1	0	0	0	0	0	0	0	1	8226	1722	60	3		3	KIAA1370	15	52901974	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3965158	52901974	49629418	1488	19159											
ONECUT1	3175	broad.mit.edu	37	chr15	53081473	53081473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggtgggcatggcggccccCgggtgggcatagtgggggag	22	9	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:53081473C>T	uc002aci.1	-	1	737	c.609G>A	c.(607-609)CCG>CCA	p.P203P		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	203					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)		TGGCGGCCCCCGGGTGGGCAT	0.706													T	53081473	C	T	53081473	2	4	20	1	0	0	0	0	0	0	0	1	10868	639	23	1		1	ONECUT1	15	53081473	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	179499	53081473	49449919	1489	19160											
CCPG1	9236	broad.mit.edu	37	chr15	55657475	55657475	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcttcatgtatctttctgaCtaactgttgacgcttctgaa	6	9	5	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:55657475C>G	uc002acv.1	-	7	904	c.739G>C	c.(739-741)GTC>CTC	p.V247L	CCPG1_uc002acy.2_Missense_Mutation_p.V247L|CCPG1_uc002acu.1_Missense_Mutation_p.V103L|CCPG1_uc002acw.1_Intron|CCPG1_uc002acx.2_Missense_Mutation_p.V247L|CCPG1_uc010bfk.1_Missense_Mutation_p.V247L|CCPG1_uc002acz.1_Missense_Mutation_p.V247L	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2	247	Lumenal (Potential).|Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)		ATCTTTCTGACTAACTGTTGA	0.234													G	55657475	C	G	55657475	3	3	20	1	0	0	0	0	1	0	0	0	2938	565	20	5	1542	5	CCPG1	15	55657475	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2576002	55657475	46873917	1490	19161											
RFX7	64864	broad.mit.edu	37	chr15	56393577	56393577	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggtgctgctgccattAcagttagagctgccattgac	11	11	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:56393577A>G	uc010bfn.2	-	7	791	c.791T>C	c.(790-792)GTA>GCA	p.V264A	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.V78A	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	167					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						TGCTGCCATTACAGTTAGAGC	0.403													G	56393577	A	G	56393577	3	3	20	1	0	0	0	0	1	0	0	0	13268	391	14	3	3603	3	RFX7	15	56393577	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	736102	56393577	46137815	1491	19162											
RNF111	54778	broad.mit.edu	37	chr15	59376343	59376343	+	Frame_Shift_Del	DEL	C	C	-													tccaggcgggcacatgaacgCcccccaccccatccacatag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:59376343delC	uc002afv.2	+	9	2592	c.2313delC	c.(2311-2313)CGCfs	p.R771fs	RNF111_uc002afs.2_Frame_Shift_Del_p.R771fs|RNF111_uc002aft.2_Frame_Shift_Del_p.R780fs|RNF111_uc002afu.2_Frame_Shift_Del_p.R770fs|RNF111_uc002afw.2_Frame_Shift_Del_p.R780fs|RNF111_uc002afx.2_Frame_Shift_Del_p.R297fs|RNF111_uc002afy.2_5'Flank	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	771	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)		CACATGAACGCCCCCCACCCC	0.443													-	59376343	C	-	59376343	7	5	20	1	0	1	0	1	0	0	0	0	13425	726	26	0	2343	0	RNF111	15	59376343	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	2982766	59376343	43155049	1492	19163											
ANXA2	302	broad.mit.edu	37	chr15	60641385	60641385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcaggaccttatctcgCgtccccttgccctgaaaatc	7	15	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:60641385C>T	uc002agn.2	-	13	1009	c.849G>A	c.(847-849)ACG>ACA	p.T283T	ANXA2_uc002agk.2_Silent_p.T283T|ANXA2_uc002agl.2_Silent_p.T283T|ANXA2_uc002agm.2_Silent_p.T301T|ANXA2_uc010uhd.1_Intron	NM_001136015	NP_001129487	P07355	ANXA2_HUMAN	annexin A2 isoform 2	283	Annexin 4.				angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	CCTTATCTCGCGTCCCCTTGC	0.368													T	60641385	C	T	60641385	2	4	20	1	0	0	0	0	0	0	0	1	718	755	27	1		1	ANXA2	15	60641385	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1265042	60641385	41890007	1493	19164											
VPS13C	54832	broad.mit.edu	37	chr15	62238081	62238081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcccaaaatagagacagCctaaaagtattagattaact	5	8	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:62238081C>T	uc002agz.2	-	45	5055	c.4981G>A	c.(4981-4983)GCT>ACT	p.A1661T	VPS13C_uc002aha.2_Missense_Mutation_p.A1618T|VPS13C_uc002ahb.1_Missense_Mutation_p.A1661T|VPS13C_uc002ahc.1_Missense_Mutation_p.A1618T	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	1661					protein localization					ovary(2)	2						ATAGAGACAGCCTAAAAGTAT	0.363													T	62238081	C	T	62238081	3	4	20	1	0	0	0	0	1	0	0	0	17188	753	26	2	6472	2	VPS13C	15	62238081	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1596696	62238081	40293311	1494	19165											
ZNF609	23060	broad.mit.edu	37	chr15	64970450	64970450	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtaaggactctgtccccAaggaagatgggaaggaaagc	15	7	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:64970450A>G	uc002ann.2	+	5	3538	c.3538A>G	c.(3538-3540)AAG>GAG	p.K1180E		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	1180						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CTCTGTCCCCAAGGAAGATGG	0.567													G	64970450	A	G	64970450	3	3	20	1	0	0	0	0	1	0	0	0	18032	131	5	3	3556	3	ZNF609	15	64970450	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2732369	64970450	37560942	1495	19166											
AAGAB	79719	broad.mit.edu	37	chr15	67528769	67528769	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcagacactctatcgcagAccaagatcatcacctcaggt	6	14	5	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:67528769A>G	uc002aqk.3	-	3	443	c.338T>C	c.(337-339)GTC>GCC	p.V113A	AAGAB_uc002aql.2_Missense_Mutation_p.V4A|AAGAB_uc010uju.1_Missense_Mutation_p.V4A	NM_024666	NP_078942	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin-binding protein p34	113					protein transport	cytoplasm					0						TCTATCGCAGACCAAGATCAT	0.428													G	67528769	A	G	67528769	3	3	20	1	0	0	0	0	1	0	0	0	15	275	10	3	641	3	AAGAB	15	67528769	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2558319	67528769	35002623	1496	19167											
PAQR5	54852	broad.mit.edu	37	chr15	69682068	69682068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccatgactactacgtggCcctggctgtactgaacacca	8	13	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:69682068C>T	uc002arz.2	+	6	839	c.461C>T	c.(460-462)GCC>GTC	p.A154V	PAQR5_uc002asa.2_Missense_Mutation_p.A154V	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	154	Helical; Name=4; (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			ovary(2)	2						TACTACGTGGCCCTGGCTGTA	0.582													T	69682068	C	T	69682068	3	4	20	1	0	0	0	0	1	0	0	0	11438	739	26	2	475	2	PAQR5	15	69682068	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2153299	69682068	32849324	1497	19168											
KIF23	9493	broad.mit.edu	37	chr15	69728066	69728066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaaggaaaagtgcggatgAtcgtgtgtgtgaaccccaag	16	6	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:69728066A>G	uc002asb.2	+	12	1345	c.1228A>G	c.(1228-1230)ATC>GTC	p.I410V	KIF23_uc002asc.2_Missense_Mutation_p.I410V|KIF23_uc010bii.2_Missense_Mutation_p.I300V|KIF23_uc010ukc.1_Missense_Mutation_p.I227V|KIF23_uc010bih.1_RNA	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	410					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0						AGTGCGGATGATCGTGTGTGT	0.368													G	69728066	A	G	69728066	3	3	20	1	0	0	0	0	1	0	0	0	8291	333	12	3	1274	3	KIF23	15	69728066	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	45998	69728066	32803326	1498	19169											
PARP6	56965	broad.mit.edu	37	chr15	72541618	72541618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaatactggagatggggCtcaggtagatgcctttgcca	14	7	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:72541618C>T	uc002auc.2	-	19	1988	c.1529G>A	c.(1528-1530)AGC>AAC	p.S510N	PARP6_uc002aua.2_Missense_Mutation_p.S356N|PARP6_uc002aub.2_Intron|PARP6_uc002aud.3_Intron|PARP6_uc002auf.1_Missense_Mutation_p.S511N	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	510	PARP catalytic.						NAD+ ADP-ribosyltransferase activity				0						GGAGATGGGGCTCAGGTAGAT	0.463													T	72541618	C	T	72541618	3	4	20	1	0	0	0	0	1	0	0	0	11464	797	28	2	383	2	PARP6	15	72541618	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2813552	72541618	29989774	1499	19170											
NEO1	4756	broad.mit.edu	37	chr15	73418845	73418845	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtagtgttgccatgtgTtgcttcaggacttcctactc	11	9	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:73418845T>C	uc002avm.3	+	4	954	c.812T>C	c.(811-813)GTT>GCT	p.V271A	NEO1_uc010ukx.1_Missense_Mutation_p.V271A|NEO1_uc010uky.1_Missense_Mutation_p.V271A|NEO1_uc010ukz.1_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	271	Extracellular (Potential).|Ig-like C2-type 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						TTGCCATGTGTTGCTTCAGGA	0.413													C	73418845	T	C	73418845	3	2	20	1	0	0	0	0	1	0	0	0	10336	1725	60	3	826	3	NEO1	15	73418845	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	877227	73418845	29112547	1500	19171											
SCAMP2	10066	broad.mit.edu	37	chr15	75140996	75140997	+	Frame_Shift_Ins	INS	-	-	A													atgtagatccctatttgacaINSaaaaaatacaaagaagaaca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:75140995_75140996C>CA	uc002azb.1	-	6	753_754	c.679_680G>TG	c.(679-681)tgtfs	p.C227fs	SCAMP2_uc002aza.1_Frame_Shift_Ins_p.C77fs	NM_005697	NP_005688	O15127	SCAM2_HUMAN	Homo sapiens secretory carrier membrane protein 2 (SCAMP2), mRNA.	227					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding	p.C227fs*3(2)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						CCCTATTTGACAAAAAAATACA	0.49													A	75140997	-	A	75140996	7	5	20	1	0	1	1	0	0	0	0	0	13871	130	5	0	322	0	SCAMP2	15	75140996	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	1722151	75140996	27390396	1501	19172											
CSPG4	1464	broad.mit.edu	37	chr15	75974705	75974705	+	Frame_Shift_Del	DEL	G	G	-													gtggaacagccggcctagctGggggccccgcaccacacggt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:75974704_75974704TG>T	uc002baw.3	-	7	4973	c.4880_4880CA>A	c.(4879-4881)cagfs	p.Q1627fs		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	1627	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.P1626L(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCGGCCTAGCTGGGGGCCCCG	0.667													-	75974705	G	-	75974705	7	5	20	1	0	1	0	1	0	0	0	0	3960	1357	47	0	2101	0	CSPG4	15	75974705	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	833709	75974705	26556687	1502	19173											
FBXO22	26263	broad.mit.edu	37	chr15	76222249	76222249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttagataaccctgaacttcGtgtggtccttgtctttggtt	9	8	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:76222249G>A	uc002bbk.2	+	6	758	c.653G>A	c.(652-654)CGT>CAT	p.R218H	FBXO22_uc002bbj.1_Missense_Mutation_p.R218H|FBXO22_uc002bbl.2_Missense_Mutation_p.R114H	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	F-box only protein 22 isoform a	218					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity				0						CCTGAACTTCGTGTGGTCCTT	0.373													A	76222249	G	A	76222249	3	1	20	1	0	0	0	0	1	0	0	0	5734	1145	40	1	675	1	FBXO22	15	76222249	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	247544	76222249	26309143	1503	19174											
MEX3B	84206	broad.mit.edu	37	chr15	82336434	82336434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagaggctgcctgggccGgacccgccggacccatgatg	14	16	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:82336434G>A	uc002bgq.1	-	2	1092	c.777C>T	c.(775-777)TCC>TCT	p.S259S		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	259					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						TGCCTGGGCCGGACCCGCCGG	0.652													A	82336434	G	A	82336434	2	1	20	1	0	0	0	0	0	0	0	1	9510	1103	39	1		1	MEX3B	15	82336434	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	6114185	82336434	20194958	1504	19175											
ALPK3	57538	broad.mit.edu	37	chr15	85360124	85360124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggccaacagccactggCgaggcaaggcgagggtcagt	17	11	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:85360124C>T	uc002ble.2	+	1	214	c.47C>T	c.(46-48)GCG>GTG	p.A16V		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	16					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGCCACTGGCGAGGCAAGGC	0.448													T	85360124	C	T	85360124	3	4	20	1	0	0	0	0	1	0	0	0	546	768	27	1	49	1	ALPK3	15	85360124	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	3023690	85360124	17171268	1505	19176											
AKAP13	11214	broad.mit.edu	37	chr15	86287017	86287017	+	Frame_Shift_Del	DEL	A	A	-													agccaaaggaaaagaaggagAaaaaaaagaagaacaaaacc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:86287016_86287016GA>G	uc002blv.1	+	35	8522	c.8352_8352GA>G	c.(8350-8352)gagfs	p.E2784fs	AKAP13_uc002blu.1_Frame_Shift_Del_p.E2788fs|AKAP13_uc002blw.1_Frame_Shift_Del_p.E1249fs|AKAP13_uc002blx.1_Frame_Shift_Del_p.E1029fs	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2784	Interaction with ESR1.|Poly-Lys.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AAAAGAAGGAGAAAAAAAAGA	0.547													-	86287017	A	-	86287017	7	5	20	1	0	1	0	1	0	0	0	0	449	247	9	0	8561	0	AKAP13	15	86287017	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	926893	86287017	16244375	1506	19177											
ISG20	3669	broad.mit.edu	37	chr15	89195456	89195456	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacacgtccactgacaggcTgttgtggcgtgaggccaagc	14	12	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:89195456T>G	uc002bmv.1	+	3	637	c.344T>G	c.(343-345)CTG>CGG	p.L115R	ISG20_uc002bmu.1_RNA|ISG20_uc002bmw.1_RNA|ISG20_uc010upn.1_RNA	NM_002201	NP_002192	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease	115					cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity				0	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			ACTGACAGGCTGTTGTGGCGT	0.557													G	89195456	T	G	89195456	3	3	20	1	0	0	0	0	1	0	0	0	7854	1580	55	5	350	5	ISG20	15	89195456	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2908439	89195456	13335936	1507	19178											
RHCG	51458	broad.mit.edu	37	chr15	90023542	90023542	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaattctgtctctccttgCtctgctctaggttgcgtcgg	10	12	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:90023542C>A	uc002bnz.2	-	4	644	c.620G>T	c.(619-621)AGC>ATC	p.S207I	RHCG_uc002bny.2_5'Flank|RHCG_uc002boa.2_RNA|RHCG_uc010bnq.1_Missense_Mutation_p.S91I	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	207	Cytoplasmic (Potential).				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			kidney(1)	1	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TCTCTCCTTGCTCTGCTCTAG	0.557													A	90023542	C	A	90023542	3	1	20	1	0	0	0	0	1	0	0	0	13326	797	28	5	847	5	RHCG	15	90023542	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	828086	90023542	12507850	1508	19179											
AP3S2	10239	broad.mit.edu	37	chr15	90454008	90454008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgtccaagatgctgtgccGagatacatcgatcagttctc	10	10	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:90454008G>A	uc002bos.3	-	2	291	c.136C>T	c.(136-138)CGG>TGG	p.R46W	C15orf38_uc002bot.1_RNA|C15orf38_uc002bou.2_Missense_Mutation_p.R46W	NM_182616	NP_872422	P59780	AP3S2_HUMAN	hypothetical protein LOC348110	Error:Variant_position_missing_in_P59780_after_alignment					intracellular protein transport|vesicle-mediated transport	cytoplasmic vesicle membrane|Golgi apparatus|membrane coat	protein transporter activity				0	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			ATGCTGTGCCGAGATACATCG	0.522													A	90454008	G	A	90454008	3	1	20	1	0	0	0	0	1	0	0	0	750	1057	37	1		1	AP3S2	15	90454008	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	430466	90454008	12077384	1509	19180											
SEMA4B	10509	broad.mit.edu	37	chr15	90771824	90771824	+	Frame_Shift_Del	DEL	C	C	-													gtggaggtatccccagtgtgCccccggccccgggtccgcct							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:90771823_90771823GC>G	uc002boy.3	+	14	2745	c.2462_2462GC>G	c.(2461-2463)tgcfs	p.C821fs	SEMA4B_uc002boz.3_Frame_Shift_Del_p.C821fs|SEMA4B_uc010uqd.2_Frame_Shift_Del_p.C659fs|SEMA4B_uc002bpa.3_Frame_Shift_Del_p.C659fs	NM_020210	NP_945119			Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B (SEMA4B), transcript variant 1, mRNA.									p.C821fs*>1(2)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCCCCAGTGTGCCCCCGGCCC	0.637													-	90771824	C	-	90771824	7	5	20	1	0	1	0	1	0	0	0	0	14032	747	26	0	2517	0	SEMA4B	15	90771824	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	317816	90771824	11759568	1510	19181											
PRC1	9055	broad.mit.edu	37	chr15	91524789	91524789	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaacaaaaggcatcttcGtcttcacacaccacatctct	4	14	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:91524789G>A	uc002bqm.2	-	5	769	c.612C>T	c.(610-612)GAC>GAT	p.D204D	PRC1_uc002bqn.2_Silent_p.D204D|PRC1_uc002bqo.2_Silent_p.D204D|PRC1_uc010uqs.1_Silent_p.D163D|PRC1_uc010uqt.1_Silent_p.D152D	NM_003981	NP_003972	O43663	PRC1_HUMAN	protein regulator of cytokinesis 1 isoform 1	204	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			ovary(1)|skin(1)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)					AGGCATCTTCGTCTTCACACA	0.423													A	91524789	G	A	91524789	2	1	20	1	0	0	0	0	0	0	0	1	12446	1136	40	1		1	PRC1	15	91524789	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	752965	91524789	11006603	1511	19182											
PGPEP1L	145814	broad.mit.edu	37	chr15	99514341	99514341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacaggcagctccagagtcCgcagctgcaccactgtttca	9	15	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:99514341C>T	uc002bum.2	-	3	274	c.68G>A	c.(67-69)CGG>CAG	p.R23Q	PGPEP1L_uc010bop.2_5'UTR|PGPEP1L_uc002bun.2_RNA	NM_001102612	NP_001096082	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase 1-like protein	23					proteolysis		cysteine-type peptidase activity				0						CTCCAGAGTCCGCAGCTGCAC	0.612													T	99514341	C	T	99514341	3	4	20	1	0	0	0	0	1	0	0	0	11804	652	23	1	534	1	PGPEP1L	15	99514341	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	7989552	99514341	3017051	1512	19183											
ADAMTS17	170691	broad.mit.edu	37	chr15	100636574	100636574	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcacctgtcccccgggcGtggctgaagtcgcccttcac	10	18	2	1	rs142335314		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:100636574G>A	uc002bvv.1	-	15	2203	c.2124C>T	c.(2122-2124)CAC>CAT	p.H708H	ADAMTS17_uc002bvx.1_Silent_p.H465H	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	708	Spacer.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TCCCCCGGGCGTGGCTGAAGT	0.587													A	100636574	G	A	100636574	2	1	20	1	0	0	0	0	0	0	0	1	262	1136	40	1		1	ADAMTS17	15	100636574	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1122233	100636574	1894818	1513	19184											
NPRL3	8131	broad.mit.edu	37	chr16	138812	138812	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatcctctggttcagtggCgagtccccgctgggaagtag	14	11	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:138812C>T	uc002cfr.2	-	13	1527	c.1428G>A	c.(1426-1428)TCG>TCA	p.S476S	NPRL3_uc010uua.1_RNA|NPRL3_uc002cfp.1_RNA|NPRL3_uc002cfq.2_Silent_p.S297S|NPRL3_uc010uub.1_Silent_p.S451S|NPRL3_uc010uuc.1_Silent_p.S398S|NPRL3_uc002cfs.1_Silent_p.S451S	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	conserved gene telomeric to alpha globin cluster	476							protein binding			ovary(1)	1						GGTTCAGTGGCGAGTCCCCGC	0.632													T	138812	C	T	138812	2	4	20	1	0	0	0	0	0	0	0	1	10598	755	27	1		1	NPRL3	16	138812	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08		138812	90215941	1514	19185											
MSLN	10232	broad.mit.edu	37	chr16	816649	816649	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccttgccacaaggctccTcggcggcccctcccacaggt	9	19	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:816649T>C	uc002cjw.1	+	13	1287	c.1236T>C	c.(1234-1236)CCT>CCC	p.P412P	MSLN_uc002cjt.1_Intron|MSLN_uc002cju.1_Intron|MSLN_uc010brd.1_Intron|MSLN_uc002cjv.1_Intron|MSLN_uc002cjx.1_Intron|MSLN_uc002cjy.1_Intron	NM_013404	NP_037536	Q13421	MSLN_HUMAN	mesothelin isoform 2 preproprotein	412					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				pancreas(1)	1		Hepatocellular(780;0.00335)				ACAAGGCTCCTCGGCGGCCCC	0.637													C	816649	T	C	816649	2	2	20	1	0	0	0	0	0	0	0	1	9881	1538	54	3		3	MSLN	16	816649	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	677837	816649	89538104	1515	19186											
BAIAP3	8938	broad.mit.edu	37	chr16	1392275	1392275	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggggtgcctcaacatAcctgtccgggtgagtgggtg	15	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:1392275A>G	uc002clk.1	+	11	1053	c.1053A>G	c.(1051-1053)ATA>ATG	p.I351M	BAIAP3_uc002clj.2_Missense_Mutation_p.I333M|BAIAP3_uc010uuz.1_Missense_Mutation_p.I316M|BAIAP3_uc010uva.1_Missense_Mutation_p.I288M|BAIAP3_uc010uvb.1_Missense_Mutation_p.I368M|BAIAP3_uc010uvc.1_Missense_Mutation_p.I316M	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	351					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				GCCTCAACATACCTGTCCGGG	0.622													G	1392275	A	G	1392275	3	3	20	1	0	0	0	0	1	0	0	0	1304	381	14	3	1095	3	BAIAP3	16	1392275	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	575626	1392275	88962478	1516	19187											
TSC2	7249	broad.mit.edu	37	chr16	2106665	2106665	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctccctgcaggtgctggaCgccgtggtctgctacaactg	13	13	2	0	rs35501344		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:2106665C>T	uc002con.2	+	8	775	c.669C>T	c.(667-669)GAC>GAT	p.D223D	TSC2_uc010bsd.2_Silent_p.D223D|TSC2_uc002coo.2_Silent_p.D223D|TSC2_uc010uvv.1_Silent_p.D186D|TSC2_uc010uvw.1_Silent_p.D174D|TSC2_uc002cop.2_Silent_p.D23D	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	223	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	p.D223N(1)		central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				AGGTGCTGGACGCCGTGGTCT	0.642			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				T	2106665	C	T	2106665	2	4	20	1	0	0	0	0	0	0	0	1	16603	535	19	1		1	TSC2	16	2106665	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	714390	2106665	88248088	1517	19188											
TRAF7	84231	broad.mit.edu	37	chr16	2223954	2223954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagatcttcaagtgcaaaGggacctttgtgggccaccag	12	10	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:2223954G>A	uc002cow.2	+	13	1267	c.1168G>A	c.(1168-1170)GGG>AGG	p.G390R		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	390					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						CAAGTGCAAAGGGACCTTTGT	0.632													A	2223954	G	A	2223954	3	1	20	1	0	0	0	0	1	0	0	0	16443	1000	35	4	1214	4	TRAF7	16	2223954	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	117289	2223954	88130799	1518	19189											
PGP	283871	broad.mit.edu	37	chr16	2263803	2263803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccattttcttcttagacaCgcagtcactttcctgattat	5	11	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:2263803C>T	uc002cpk.1	-	2	936	c.892G>A	c.(892-894)GTG>ATG	p.V298M	C16orf79_uc002cpi.1_5'Flank|C16orf79_uc010bsh.2_5'Flank|PGP_uc010uvz.1_RNA	NM_001042371	NP_001035830	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase	298					carbohydrate metabolic process		phosphoglycolate phosphatase activity			skin(1)	1						TTCTTAGACACGCAGTCACTT	0.488													T	2263803	C	T	2263803	3	4	20	1	0	0	0	0	1	0	0	0	11802	536	19	1	77	1	PGP	16	2263803	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	39849	2263803	88090950	1519	19190											
PRSS27	83886	broad.mit.edu	37	chr16	2763683	2763683	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagtttctgcaggatccgCggttcgggcaggaggtctgg	18	9	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:2763683C>T	uc002crf.2	-	5	916	c.525G>A	c.(523-525)CCG>CCA	p.P175P	PRSS27_uc002cre.2_Silent_p.P139P|PRSS27_uc002crg.2_Silent_p.P73P|PRSS27_uc010bst.1_Silent_p.P73P	NM_031948	NP_114154	Q9BQR3	PRS27_HUMAN	marapsin precursor	175	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						GCAGGATCCGCGGTTCGGGCA	0.597													T	2763683	C	T	2763683	2	4	20	1	0	0	0	0	0	0	0	1	12621	755	27	1		1	PRSS27	16	2763683	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	499880	2763683	87591070	1520	19191											
MEFV	4210	broad.mit.edu	37	chr16	3299587	3299587	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgtggcaggggctggggGcttaggcttcccgggctctt	17	11	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:3299587G>A	uc002cun.1	-	3	1144	c.1104C>T	c.(1102-1104)AGC>AGT	p.S368S		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	368					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	GGGGCTGGGGGCTTAGGCTTC	0.642													A	3299587	G	A	3299587	2	1	20	1	0	0	0	0	0	0	0	1	9459	1194	42	2		2	MEFV	16	3299587	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	535904	3299587	87055166	1521	19192											
BTBD12	84464	broad.mit.edu	37	chr16	3640962	3640962	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttctgcacctggacacCtgctaggagttgcccagaaa	10	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:3640962C>A	uc002cvp.2	-	12	3304	c.2677G>T	c.(2677-2679)GGT>TGT	p.G893C		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	893	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						ACCTGGACACCTGCTAGGAGT	0.612								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				A	3640962	C	A	3640962	3	1	20	1	0	0	0	0	1	0	0	0	1540	681	24	5	2843	5	BTBD12	16	3640962	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	341375	3640962	86713791	1522	19193											
CREBBP	1387	broad.mit.edu	37	chr16	3781793	3781793	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacctccttgtgcttctccAtggtggcatacagcttctgg	9	13	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:3781793A>G	uc002cvv.2	-	29	5078	c.4874T>C	c.(4873-4875)ATG>ACG	p.M1625T	CREBBP_uc002cvw.2_Missense_Mutation_p.M1587T	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1625	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.M1625L(1)		haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGCTTCTCCATGGTGGCATA	0.507			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				G	3781793	A	G	3781793	3	3	20	1	0	0	0	0	1	0	0	0	3861	217	8	3	2466	3	CREBBP	16	3781793	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	140831	3781793	86572960	1523	19194											
SRL	6345	broad.mit.edu	37	chr16	4247798	4247798	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcacacaagaatattgattAcctgtatagagctgatagcg	8	7	1	4	rs112367857		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:4247798A>G	uc002cvz.3	-	4	389	c.376_splice	c.e4+1	p.G126_splice	SRL_uc002cvy.3_Splice_Site	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	sarcalumenin							sarcoplasmic reticulum lumen	GTP binding|GTPase activity			ovary(3)|skin(2)	5						AATATTGATTACCTGTATAGA	0.338													G	4247798	A	G	4247798	5	3	20	1	0	0	0	0	0	0	1	0	15149	405	14	3	1055	3	SRL	16	4247798	Splice_Site	SNP	A	TCGA-BR-4362-01A-01D-1158-08	466005	4247798	86106955	1524	19195											
TFAP4	7023	broad.mit.edu	37	chr16	4312555	4312555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgctgagcttctctccGtctgtgtgggggatgagggt	15	9	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:4312555G>A	uc010uxg.1	-	2	491	c.237C>T	c.(235-237)GAC>GAT	p.D79D		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	79	Helix-loop-helix motif.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						GCTTCTCTCCGTCTGTGTGGG	0.622													A	4312555	G	A	4312555	2	1	20	1	0	0	0	0	0	0	0	1	15789	1136	40	1		1	TFAP4	16	4312555	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	64757	4312555	86042198	1525	19196											
TFAP4	7023	broad.mit.edu	37	chr16	4322659	4322659	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggggaggaggagtacacacCtacagagccctcctatcact	12	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:4322659C>A	uc010uxg.1	-	1	343	c.89G>T	c.(88-90)AGC>ATC	p.S30I		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	30					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						GAGTACACACCTACAGAGCCC	0.488													A	4322659	C	A	4322659	3	1	20	1	0	0	0	0	1	0	0	0	15789	695	24	5	955	5	TFAP4	16	4322659	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	10104	4322659	86032094	1526	19197											
CLEC16A	23274	broad.mit.edu	37	chr16	11219992	11219992	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtgtttgcatcggtggAcaaggtgccaggtgagccag	15	10	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:11219992A>G	uc002dao.2	+	22	2860	c.2630A>G	c.(2629-2631)GAC>GGC	p.D877G	CLEC16A_uc002dan.3_Missense_Mutation_p.D859G|CLEC16A_uc002dap.2_5'UTR	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	877										ovary(1)|central_nervous_system(1)	2						GCATCGGTGGACAAGGTGCCA	0.652													G	11219992	A	G	11219992	3	3	20	1	0	0	0	0	1	0	0	0	3500	275	10	3	2712	3	CLEC16A	16	11219992	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	6897333	11219992	79134761	1527	19198											
MKL2	57496	broad.mit.edu	37	chr16	14328066	14328066	+	Frame_Shift_Del	DEL	C	C	-													ctccaactgcagatcagcctCccccacggcctgcagctcct							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:14328065_14328065TC>T	uc010uza.2	+	8	911	c.756_756TC>T	c.(754-756)cctfs	p.P252fs	MKL2_uc002dcg.3_Frame_Shift_Del_p.P252fs|MKL2_uc002dch.3_Frame_Shift_Del_p.P241fs|MKL2_uc010uzb.2_Frame_Shift_Del_p.P201fs	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	241					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGATCAGCCTCCCCCACGGC	0.527													-	14328066	C	-	14328066	7	5	20	1	0	1	0	1	0	0	0	0	9602	855	30	0	783	0	MKL2	16	14328066	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	3108074	14328066	76026687	1528	19199											
PARN	5073	broad.mit.edu	37	chr16	14540793	14540793	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttaatttcttggccttttTccttccctctgagaggggct	8	10	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:14540793T>C	uc010uzd.1	-	23	1958	c.1816A>G	c.(1816-1818)AAA>GAA	p.K606E	PARN_uc010uzc.1_Missense_Mutation_p.K545E|PARN_uc010uze.1_Missense_Mutation_p.K560E|PARN_uc010uzf.1_Missense_Mutation_p.K431E	NM_002582	NP_002573	O95453	PARN_HUMAN	poly(A)-specific ribonuclease (deadenylation	606					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			ovary(2)	2						TTGGCCTTTTTCCTTCCCTCT	0.502													C	14540793	T	C	14540793	3	2	20	1	0	0	0	0	1	0	0	0	11453	1792	62	3	111	3	PARN	16	14540793	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	212727	14540793	75813960	1529	19200											
BFAR	51283	broad.mit.edu	37	chr16	14749041	14749042	+	Frame_Shift_Ins	INS	-	-	C													caaagcattaggcgtgaagcINSccccccagaatctctgggaa							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:14749040_14749041G>GC	uc002dco.3	+	4	1037_1038	c.756_757G>GC	c.(754-759)aagcccfs	p.K252fs	BFAR_uc010uzh.2_Frame_Shift_Ins_p.K124fs	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	Homo sapiens bifunctional apoptosis regulator (BFAR), mRNA.	252					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding	p.Q255fs*7(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						TAGGCGTGAAGCCCCCCCAGAA	0.361													C	14749042	-	C	14749041	7	5	20	1	0	1	1	0	0	0	0	0	1414	739	26	0	771	0	BFAR	16	14749041	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	208248	14749041	75605712	1530	19201											
XYLT1	64131	broad.mit.edu	37	chr16	17232375	17232375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggctgttctccaggaccGtatggaagaaggactgcagg	17	8	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:17232375G>A	uc002dfa.2	-	8	1686	c.1601C>T	c.(1600-1602)ACG>ATG	p.T534M		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	534	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						CTCCAGGACCGTATGGAAGAA	0.502													A	17232375	G	A	17232375	3	1	20	1	0	0	0	0	1	0	0	0	17460	1145	40	1	1298	1	XYLT1	16	17232375	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2483334	17232375	73122378	1531	19202											
LOC81691	81691	broad.mit.edu	37	chr16	20851786	20851786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttttgttcttgaaacccGtcaggtaagaccggaaaatt	9	8	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:20851786G>A	uc002dhv.2	+	15	1885	c.1622G>A	c.(1621-1623)CGT>CAT	p.R541H	ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.R541H|LOC81691_uc002dhw.2_Missense_Mutation_p.R284H|LOC81691_uc002dhy.3_Missense_Mutation_p.R541H	NM_030941	NP_112203	Q96IC2	REXON_HUMAN	exonuclease NEF-sp isoform 1	541	RRM 1.					nucleolus	exonuclease activity|nucleotide binding|RNA binding			ovary(1)|kidney(1)	2						CTTGAAACCCGTCAGGTAAGA	0.413													A	20851786	G	A	20851786	3	1	20	1	0	0	0	0	1	0	0	0	8890	1145	40	1	1676	1	LOC81691	16	20851786	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3619411	20851786	69502967	1532	19203											
DNAH3	55567	broad.mit.edu	37	chr16	21042529	21042529	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtggctcacttggtcaaaGcacccatacagctgccccat	8	15	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:21042529G>A	uc010vbe.1	-	37	5277	c.5277C>T	c.(5275-5277)TGC>TGT	p.C1759C		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1759	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CTTGGTCAAAGCACCCATACA	0.507													A	21042529	G	A	21042529	2	1	20	1	0	0	0	0	0	0	0	1	4603	963	34	2		2	DNAH3	16	21042529	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	190743	21042529	69312224	1533	19204											
DNAH3	55567	broad.mit.edu	37	chr16	21049222	21049222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagcacagacttgacagcgCgcataccgtagtcatagtga	10	10	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:21049222C>T	uc010vbe.1	-	34	4811	c.4811G>A	c.(4810-4812)CGC>CAC	p.R1604H		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1604	AAA 1 (By similarity).			YGMR -> FGLH (in Ref. 5; CAB06059).	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CTTGACAGCGCGCATACCGTA	0.522													T	21049222	C	T	21049222	3	4	20	1	0	0	0	0	1	0	0	0	4603	768	27	1	7654	1	DNAH3	16	21049222	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	6693	21049222	69305531	1534	19205											
DNAH3	55567	broad.mit.edu	37	chr16	21109952	21109952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacctcaaactctgcaaaCgcccgatttaggttctttga	6	12	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:21109952C>T	uc010vbe.1	-	17	2505	c.2505G>A	c.(2503-2505)GCG>GCA	p.A835A		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	835	Stem (By similarity).|Potential.				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		ACTCTGCAAACGCCCGATTTA	0.403													T	21109952	C	T	21109952	2	4	20	1	0	0	0	0	0	0	0	1	4603	523	19	1		1	DNAH3	16	21109952	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	60730	21109952	69244801	1535	19206											
ZP2	7783	broad.mit.edu	37	chr16	21222833	21222833	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgcattgaaccagcctgaGggactccaagagcctcctct	9	15	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:21222833G>T	uc002dii.2	-	1	36	c.36C>A	c.(34-36)CCC>CCA	p.P12P	ZP2_uc010bwn.1_Silent_p.P51P|ZP2_uc010bwo.2_Silent_p.P51P	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	12					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(48;0.0573)		ACCAGCCTGAGGGACTCCAAG	0.502													T	21222833	G	T	21222833	2	4	20	1	0	0	0	0	0	0	0	1	18213	987	35	5		5	ZP2	16	21222833	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	112881	21222833	69131920	1536	19207											
ERN2	10595	broad.mit.edu	37	chr16	23706239	23706239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatatttcctggcttcaggTcccggtgcactgtgggagag	14	9	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:23706239T>C	uc002dma.3	-	17	2223	c.2054A>G	c.(2053-2055)GAC>GGC	p.D685G	ERN2_uc010bxp.2_Missense_Mutation_p.D633G	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	637	Protein kinase.|Cytoplasmic (Potential).	Proton acceptor (By similarity).			apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TGGCTTCAGGTCCCGGTGCAC	0.632													C	23706239	T	C	23706239	3	2	20	1	0	0	0	0	1	0	0	0	5238	1667	58	3	894	3	ERN2	16	23706239	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2483406	23706239	66648514	1537	19208											
CACNG3	10368	broad.mit.edu	37	chr16	24372978	24372978	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccagatcccgagacctgTcccccatcagcaaaggcttc	8	17	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:24372978T>C	uc002dmf.2	+	4	1942	c.742T>C	c.(742-744)TCC>CCC	p.S248P		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	248					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0				GBM - Glioblastoma multiforme(48;0.0809)		CCGAGACCTGTCCCCCATCAG	0.577													C	24372978	T	C	24372978	3	2	20	1	0	0	0	0	1	0	0	0	2558	1667	58	3	756	3	CACNG3	16	24372978	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	666739	24372978	65981775	1538	19209											
TNRC6A	27327	broad.mit.edu	37	chr16	24803058	24803058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcccaaatggcaacagccGttcagaccagcaagcacagg	10	14	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:24803058G>A	uc002dmm.2	+	6	3209	c.3095G>A	c.(3094-3096)CGT>CAT	p.R1032H	TNRC6A_uc010bxs.2_Missense_Mutation_p.R779H|TNRC6A_uc010vcc.1_Missense_Mutation_p.R779H|TNRC6A_uc002dmn.2_Missense_Mutation_p.R779H|TNRC6A_uc002dmo.2_Missense_Mutation_p.R779H	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1032	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		GGCAACAGCCGTTCAGACCAG	0.443													A	24803058	G	A	24803058	3	1	20	1	0	0	0	0	1	0	0	0	16337	1145	40	1	3117	1	TNRC6A	16	24803058	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	430080	24803058	65551695	1539	19210											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25258442	25258442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgaagtgtttcataaaagcGagactctttgagaattgcca	9	7	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:25258442G>A	uc002dod.3	-	5	1482	c.1075C>T	c.(1075-1077)CGC>TGC	p.R359C	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.R155C|ZKSCAN2_uc002doe.2_Missense_Mutation_p.R359C	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	359					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		TCATAAAAGCGAGACTCTTTG	0.473													A	25258442	G	A	25258442	3	1	20	1	0	0	0	0	1	0	0	0	17684	1058	37	1	1840	1	ZKSCAN2	16	25258442	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	455384	25258442	65096311	1540	19211											
GTF3C1	2975	broad.mit.edu	37	chr16	27523220	27523220	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgaaccatgacgtcggTccctggcaacacaagcacgg	11	15	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:27523220T>C	uc002dov.1	-	7	1016	c.976A>G	c.(976-978)ACC>GCC	p.T326A	GTF3C1_uc002dou.2_Missense_Mutation_p.T326A	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	326						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						ATGACGTCGGTCCCTGGCAAC	0.537													C	27523220	T	C	27523220	3	2	20	1	0	0	0	0	1	0	0	0	6872	1667	58	3	5477	3	GTF3C1	16	27523220	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2264778	27523220	62831533	1541	19212											
GTF3C1	2975	broad.mit.edu	37	chr16	27549214	27549215	+	Frame_Shift_Ins	INS	-	-	T													agcccgtttttgttcaaaatINSttttctgtgatagtgcagct							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:27549213_27549214A>AT	uc002dov.2	-	3	683_684	c.643_644T>AT	c.(643-645)attfs	p.I215fs	GTF3C1_uc002dou.3_Frame_Shift_Ins_p.I215fs	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	215						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTTGTTCAAAATTTTTCTGTGA	0.45													T	27549215	-	T	27549214	7	5	20	1	0	1	1	0	0	0	0	0	6872	1493	52	0	5822	0	GTF3C1	16	27549214	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	25994	27549214	62805539	1542	19213											
SULT1A2	6799	broad.mit.edu	37	chr16	28604855	28604855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagtggtagtaggaaaccGccacatcctttgcgttgcgg	13	9	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:28604855G>A	uc002dqg.1	-	5	758	c.407C>T	c.(406-408)GCG>GTG	p.A136V	uc010vct.1_Intron|SULT1A2_uc002dqh.1_Missense_Mutation_p.A136V	NM_177528	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A,	136	PAPS (By similarity).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						GTAGGAAACCGCCACATCCTT	0.577													A	28604855	G	A	28604855	3	1	20	1	0	0	0	0	1	0	0	0	15372	1087	38	1	496	1	SULT1A2	16	28604855	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1055641	28604855	61749898	1543	19214											
ATXN2L	11273	broad.mit.edu	37	chr16	28845512	28845512	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcctacatacctcagatcCacatgggaccagctgtgcag	8	14	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:28845512C>A	uc002drc.2	+	16	2320	c.2152C>A	c.(2152-2154)CAC>AAC	p.H718N	uc010vct.1_Intron|ATXN2L_uc002drb.2_Missense_Mutation_p.H718N|ATXN2L_uc002dqy.2_Missense_Mutation_p.H718N|ATXN2L_uc002dra.2_Missense_Mutation_p.H718N|ATXN2L_uc002dqz.2_Missense_Mutation_p.H718N|ATXN2L_uc010vdb.1_Missense_Mutation_p.H724N|ATXN2L_uc002dre.2_Missense_Mutation_p.H718N|ATXN2L_uc002drf.2_Missense_Mutation_p.H127N|ATXN2L_uc002drg.2_5'UTR	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	718						membrane				upper_aerodigestive_tract(1)|ovary(1)	2						ACCTCAGATCCACATGGGACC	0.617													A	28845512	C	A	28845512	3	1	20	1	0	0	0	0	1	0	0	0	1212	594	21	5	2214	5	ATXN2L	16	28845512	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	240657	28845512	61509241	1544	19215											
TAOK2	9344	broad.mit.edu	37	chr16	29990346	29990346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagctgtgacccacggggCgcttcagggcctggcatatc	14	14	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:29990346C>T	uc002dva.1	+	6	1187	c.404C>T	c.(403-405)GCG>GTG	p.A135V	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.A135V|TAOK2_uc002dvc.1_Missense_Mutation_p.A135V|TAOK2_uc010bzm.1_Missense_Mutation_p.A135V|TAOK2_uc002dvd.1_5'Flank	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	135	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						ACCCACGGGGCGCTTCAGGGC	0.587													T	29990346	C	T	29990346	3	4	20	1	0	0	0	0	1	0	0	0	15545	768	27	1	422	1	TAOK2	16	29990346	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1144834	29990346	60364407	1545	19216											
CORO1A	11151	broad.mit.edu	37	chr16	30199690	30199690	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgcccacagtcggacctGttccaggaggacctgtaccc	10	16	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:30199690G>A	uc002dww.2	+	10	1196	c.1074G>A	c.(1072-1074)CTG>CTA	p.L358L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Silent_p.L358L|CORO1A_uc010bzr.2_Intron|CORO1A_uc002dwx.2_Silent_p.L252L|CORO1A_uc002dwy.1_3'UTR|LOC606724_uc002dwz.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	358					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity				0						AGTCGGACCTGTTCCAGGAGG	0.672													A	30199690	G	A	30199690	2	1	20	1	0	0	0	0	0	0	0	1	3753	1364	48	4		4	CORO1A	16	30199690	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	209344	30199690	60155063	1546	19217											
MYLPF	29895	broad.mit.edu	37	chr16	30387188	30387188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagagggcggaagctccagCgtcttctccatgttcgacca	12	12	2	1	rs140103472		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:30387188C>T	uc002dxv.1	+	2	107	c.51C>T	c.(49-51)AGC>AGT	p.S17S		NM_013292	NP_037424	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast	17					skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle				0			Colorectal(24;0.193)			GAAGCTCCAGCGTCTTCTCCA	0.602													T	30387188	C	T	30387188	2	4	20	1	0	0	0	0	0	0	0	1	10060	767	27	1		1	MYLPF	16	30387188	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	187498	30387188	59967565	1547	19218											
SRCAP	10847	broad.mit.edu	37	chr16	30736371	30736372	+	Frame_Shift_Ins	INS	-	-	C													cccccggcctcgacgccagcINScccccccaccacctcgttcc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:30736370_30736371G>GC	uc002dze.1	+	24	6010_6011	c.5625_5626G>GC	c.(5623-5628)cagcccfs	p.Q1875fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Ins_p.Q1670fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1875	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGACGCCAGCCCCCCCCACC	0.569													C	30736372	-	C	30736371	7	5	20	1	0	1	1	0	0	0	0	0	15134	739	26	0	5716	0	SRCAP	16	30736371	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	349183	30736371	59618382	1548	19219											
SRCAP	10847	broad.mit.edu	37	chr16	30750440	30750440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagctccccgtcttggacCgtgacagcacttctgttctc	9	16	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:30750440C>T	uc002dze.1	+	34	9464	c.9079C>T	c.(9079-9081)CGT>TGT	p.R3027C	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R2822C	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	3027					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CGTCTTGGACCGTGACAGCAC	0.607													T	30750440	C	T	30750440	3	4	20	1	0	0	0	0	1	0	0	0	15134	652	23	1	9205	1	SRCAP	16	30750440	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	14069	30750440	59604313	1549	19220											
SETD1A	9739	broad.mit.edu	37	chr16	30970171	30970171	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggccttctcagaaggtgtAccgctatgatggagtccact	11	11	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:30970171A>G	uc002ead.1	+	2	805	c.119A>G	c.(118-120)TAC>TGC	p.Y40C	SETD1A_uc002eae.1_Missense_Mutation_p.Y40C	NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						CAGAAGGTGTACCGCTATGAT	0.607													G	30970171	A	G	30970171	3	3	20	1	0	0	0	0	1	0	0	0	14130	391	14	3	121	3	SETD1A	16	30970171	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	219731	30970171	59384582	1550	19221											
C16orf58	64755	broad.mit.edu	37	chr16	31502222	31502222	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatccacctctagctggtgCttctcggtcttccagccggc	9	16	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:31502222C>A	uc002eci.1	-	13	1353	c.1341G>T	c.(1339-1341)AAG>AAT	p.K447N	C16orf58_uc002ecg.2_5'Flank|C16orf58_uc002ech.1_Missense_Mutation_p.K185N	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN	hypothetical protein LOC64755	447						integral to membrane				ovary(1)|breast(1)	2						CTAGCTGGTGCTTCTCGGTCT	0.622													A	31502222	C	A	31502222	3	1	20	1	0	0	0	0	1	0	0	0	1822	796	28	5	69	5	C16orf58	16	31502222	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	532051	31502222	58852531	1551	19222											
PHKB	5257	broad.mit.edu	37	chr16	47614272	47614272	+	Splice_Site	DEL	A	A	-													aacctttttggcaaccaggtAaaaaataagacccccagaat							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:47614271_47614271TA>T	uc002eev.4	+	8	826	c.774_splice	c.e8+2	p.Q258_splice	PHKB_uc002eeu.4_Splice_Site_p.Q251_splice	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	258					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GGCAACCAGGTAAAAAATAAG	0.323													-	47614272	A	-	47614272	8	5	20	1	0	1	0	1	0	0	1	0	11845	377	13	0		0	PHKB	16	47614272	Splice_Site	DEL	A	TCGA-BR-4362-01A-01D-1158-08	16112050	47614272	42740481	1552	19223											
ABCC12	94160	broad.mit.edu	37	chr16	48158156	48158156	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgcaaggagggagctctTtccacttcccacattcccac	8	15	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:48158156T>C	uc002efc.1	-	10	1901	c.1555A>G	c.(1555-1557)AAG>GAG	p.K519E	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.K519E	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	519	ABC transporter 1.|ATP 1 (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				AGGGAGCTCTTTCCACTTCCC	0.512													C	48158156	T	C	48158156	3	2	20	1	0	0	0	0	1	0	0	0	52	1850	64	3	2604	3	ABCC12	16	48158156	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	543884	48158156	42196597	1553	19224											
ABCC11	85320	broad.mit.edu	37	chr16	48248902	48248902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaggctctggacaagccCgcacttctccaatagtttcc	8	14	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:48248902C>T	uc002eff.1	-	8	1488	c.1138G>A	c.(1138-1140)GGG>AGG	p.G380R	ABCC11_uc002efg.1_Missense_Mutation_p.G380R|ABCC11_uc002efh.1_Missense_Mutation_p.G380R|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	380	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGGACAAGCCCGCACTTCTCC	0.453									Cerumen_Type				T	48248902	C	T	48248902	3	4	20	1	0	0	0	0	1	0	0	0	51	652	23	1	3098	1	ABCC11	16	48248902	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	90746	48248902	42105851	1554	19225											
ABCC11	85320	broad.mit.edu	37	chr16	48249234	48249234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgatgctgagccttcaCagccattcttgtcatgaata	9	9	3	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:48249234C>T	uc002eff.1	-	7	1323	c.973G>A	c.(973-975)GTG>ATG	p.V325M	ABCC11_uc002efg.1_Missense_Mutation_p.V325M|ABCC11_uc002efh.1_Missense_Mutation_p.V325M|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	325	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGAGCCTTCACAGCCATTCTT	0.488									Cerumen_Type				T	48249234	C	T	48249234	3	4	20	1	0	0	0	0	1	0	0	0	51	478	17	4	3267	4	ABCC11	16	48249234	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	332	48249234	42105519	1555	19226											
HEATR3	55027	broad.mit.edu	37	chr16	50102752	50102752	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgactaaggatatcatgAcccctctggttgcgctgcta	11	10	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:50102752A>C	uc002efw.2	+	3	535	c.373A>C	c.(373-375)ACC>CCC	p.T125P	HEATR3_uc002efx.2_Missense_Mutation_p.T39P	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	125							binding			ovary(1)|skin(1)	2						GGATATCATGACCCCTCTGGT	0.373													C	50102752	A	C	50102752	3	2	20	1	0	0	0	0	1	0	0	0	7029	275	10	5	383	5	HEATR3	16	50102752	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1853518	50102752	40252001	1556	19227											
NKD1	85407	broad.mit.edu	37	chr16	50667513	50667513	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagccaaggagagccagcagGgctgccggggcctgcaggca	18	12	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:50667513G>T	uc002egg.1	+	10	1458	c.1234G>T	c.(1234-1236)GGC>TGC	p.G412C		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	naked cuticle homolog 1	412					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding				0		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GAGCCAGCAGGGCTGCCGGGG	0.726													T	50667513	G	T	50667513	3	4	20	1	0	0	0	0	1	0	0	0	10441	1232	43	5	1272	5	NKD1	16	50667513	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	564761	50667513	39687240	1557	19228											
SNX20	124460	broad.mit.edu	37	chr16	50707351	50707351	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcacagtgagctccttcAgggtgatgcctcggggcgtg	15	12	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:50707351A>G	uc002egk.2	-	4	1090	c.917T>C	c.(916-918)CTG>CCG	p.L306P	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	sorting nexin 20 isoform 1	306					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			ovary(1)	1						GAGCTCCTTCAGGGTGATGCC	0.652													G	50707351	A	G	50707351	3	3	20	1	0	0	0	0	1	0	0	0	14892	188	7	3	180	3	SNX20	16	50707351	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	39838	50707351	39647402	1558	19229											
CHD9	80205	broad.mit.edu	37	chr16	53190809	53190809	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcagtaattcacagcaaTtttcttcacattattccttt	3	10	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:53190809T>A	uc002ehb.2	+	1	972	c.808T>A	c.(808-810)TTT>ATT	p.F270I	CHD9_uc002egy.2_Missense_Mutation_p.F270I|CHD9_uc002egz.1_Missense_Mutation_p.F270I|CHD9_uc002eha.1_Missense_Mutation_p.F270I|CHD9_uc002ehc.2_Missense_Mutation_p.F270I	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	270	Ser-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				TTCACAGCAATTTTCTTCACA	0.368													A	53190809	T	A	53190809	3	1	20	1	0	0	0	0	1	0	0	0	3332	1493	52	5	810	5	CHD9	16	53190809	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2483458	53190809	37163944	1559	19230											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53679760	53679760	+	Frame_Shift_Del	DEL	A	A	-													gtatcatggtctgcaaaatcAaaaaacttgtacacaacata							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:53679759_53679759CA>C	uc002ehp.3	-	16	2525	c.2461_2461TG>G	c.(2461-2463)gatfs	p.D821fs	RPGRIP1L_uc002eho.4_Frame_Shift_Del_p.D821fs|RPGRIP1L_uc010vgy.2_Frame_Shift_Del_p.D821fs|RPGRIP1L_uc010cbx.3_Frame_Shift_Del_p.D821fs|RPGRIP1L_uc010vgz.1_Frame_Shift_Del_p.D821fs	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	821	C2 2.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCTGCAAAATCAAAAAACTTG	0.418													-	53679760	A	-	53679760	7	5	20	1	0	1	0	1	0	0	0	0	13550	127	5	0	1531	0	RPGRIP1L	16	53679760	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	488951	53679760	36674993	1560	19231											
SLC6A2	6530	broad.mit.edu	37	chr16	55706069	55706069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaagtacaagttcacgcCggcagccgagttttatgagt	10	11	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:55706069C>T	uc002eif.2	+	4	737	c.626C>T	c.(625-627)CCG>CTG	p.P209L	SLC6A2_uc010ccd.2_Missense_Mutation_p.P209L|SLC6A2_uc002eig.2_Missense_Mutation_p.P209L|SLC6A2_uc002eih.2_Missense_Mutation_p.P209L|SLC6A2_uc002eii.2_Missense_Mutation_p.P104L	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	209	Extracellular (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	p.P209P(1)		lung(4)|ovary(2)|pancreas(2)	8				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AAGTTCACGCCGGCAGCCGAG	0.547													T	55706069	C	T	55706069	3	4	20	1	0	0	0	0	1	0	0	0	14683	652	23	1	727	1	SLC6A2	16	55706069	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2026309	55706069	34648684	1561	19232											
CX3CL1	6376	broad.mit.edu	37	chr16	57416565	57416565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcccgtgccagcgcacaCggatgccttccaggactggg	15	14	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:57416565C>T	uc002eli.2	+	3	882	c.815C>T	c.(814-816)ACG>ATG	p.T272M		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	272	Mucin-like stalk.|Extracellular (Potential).				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity				0						CCAGCGCACACGGATGCCTTC	0.662													T	57416565	C	T	57416565	3	4	20	1	0	0	0	0	1	0	0	0	4074	536	19	1	825	1	CX3CL1	16	57416565	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1710496	57416565	32938188	1562	19233											
CX3CL1	6376	broad.mit.edu	37	chr16	57416914	57416914	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacatcccccggagctgtggTagtaattcatatgtcctggt	10	10	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:57416914T>C	uc002eli.2	+	3	1231	c.1164T>C	c.(1162-1164)GGT>GGC	p.G388G		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	388	Cytoplasmic (Potential).				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity				0						GGAGCTGTGGTAGTAATTCAT	0.582													C	57416914	T	C	57416914	2	2	20	1	0	0	0	0	0	0	0	1	4074	1625	57	3		3	CX3CL1	16	57416914	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	349	57416914	32937839	1563	19234											
GPR97	222487	broad.mit.edu	37	chr16	57702267	57702267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctggccaaggatggcgaCgcccaggggcctgggggccc	19	13	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:57702267C>T	uc002emh.2	+	1	111	c.8C>T	c.(7-9)ACG>ATG	p.T3M	GPR97_uc010cdc.2_Missense_Mutation_p.T3M|GPR97_uc010vhv.1_Translation_Start_Site|GPR97_uc010cdd.2_RNA	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97 precursor	3					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1						AGGATGGCGACGCCCAGGGGC	0.726													T	57702267	C	T	57702267	3	4	20	1	0	0	0	0	1	0	0	0	6720	536	19	1	10	1	GPR97	16	57702267	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	285353	57702267	32652486	1564	19235											
GOT2	2806	broad.mit.edu	37	chr16	58750636	58750636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgttcgatgaagtggcGcacagcccaggcatccttat	11	13	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:58750636G>A	uc002eof.1	-	7	898	c.784C>T	c.(784-786)CGC>TGC	p.R262C	GOT2_uc010vim.1_Missense_Mutation_p.R219C	NM_002080	NP_002071	P00505	AATM_HUMAN	aspartate aminotransferase 2 precursor	262					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATGAAGTGGCGCACAGCCCAG	0.473													A	58750636	G	A	58750636	3	1	20	1	0	0	0	0	1	0	0	0	6581	1087	38	1	524	1	GOT2	16	58750636	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1048369	58750636	31604117	1565	19236											
CDH8	1006	broad.mit.edu	37	chr16	61689544	61689544	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtggaggatttccactatcaCtgattatgattggtaaaaga	10	5	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:61689544C>G	uc002eog.1	-	11	1988	c.1736G>C	c.(1735-1737)AGT>ACT	p.S579T		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	579	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCCACTATCACTGATTATGAT	0.423													G	61689544	C	G	61689544	3	3	20	1	0	0	0	0	1	0	0	0	3116	565	20	5	671	5	CDH8	16	61689544	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2938908	61689544	28665209	1566	19237											
CDH11	1009	broad.mit.edu	37	chr16	65032470	65032470	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacaccgtacgcacccacaTtggacctctcaggcacgttg	8	17	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:65032470T>G	uc002eoi.2	-	4	952	c.518A>C	c.(517-519)AAT>ACT	p.N173T	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.N173T|CDH11_uc010vin.1_Missense_Mutation_p.N47T|CDH11_uc010vio.1_Missense_Mutation_p.N173T	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	173	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGCACCCACATTGGACCTCTC	0.572			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			G	65032470	T	G	65032470	3	3	20	1	0	0	0	0	1	0	0	0	3097	1493	52	5	1912	5	CDH11	16	65032470	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3342926	65032470	25322283	1567	19238											
CDH5	1003	broad.mit.edu	37	chr16	66423351	66423352	+	Frame_Shift_Ins	INS	-	-	G													cgagatgcccagggcctccgINSgggggactcgggcacggcca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:66423350_66423351C>CG	uc002eom.4	+	4	862_863	c.706_707C>CG	c.(706-708)cggfs	p.R236fs	CDH5_uc002eon.1_Frame_Shift_Ins_p.R236fs	NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	236	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCAGGGCCTCCGGGGGGACTCG	0.579													G	66423352	-	G	66423351	7	5	20	1	0	1	1	0	0	0	0	0	3113	1116	39	0	721	0	CDH5	16	66423351	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	1390881	66423351	23931402	1568	19239											
SLC9A5	6553	broad.mit.edu	37	chr16	67286608	67286608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcctcctattgtgttGgactcaggctatttcatgcc	9	12	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:67286608G>A	uc002esm.2	+	2	414	c.351G>A	c.(349-351)TTG>TTA	p.L117L	SLC9A5_uc010cee.2_5'UTR|SLC9A5_uc010vji.1_5'UTR	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	117	Helical; (Potential).				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CTATTGTGTTGGACTCAGGCT	0.537													A	67286608	G	A	67286608	2	1	20	1	0	0	0	0	0	0	0	1	14717	1339	47	4		4	SLC9A5	16	67286608	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	863257	67286608	23068145	1569	19240											
AGRP	181	broad.mit.edu	37	chr16	67516936	67516936	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcagttacctctgccaAggcctgagcctcctgcaaca	9	15	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:67516936A>G	uc002etg.1	-	3	508	c.208T>C	c.(208-210)TTG>CTG	p.L70L	ATP6V0D1_uc002ete.1_5'Flank|ATP6V0D1_uc010vjo.1_5'Flank	NM_001138	NP_001129	O00253	AGRP_HUMAN	agouti related protein homolog isoform 1	70					hormone-mediated signaling pathway|neuropeptide signaling pathway|regulation of feeding behavior	extracellular space|Golgi lumen	neuropeptide hormone activity				0		Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16)		ACCTCTGCCAAGGCCTGAGCC	0.607													G	67516936	A	G	67516936	2	3	20	1	0	0	0	0	0	0	0	1	398	69	3	3		3	AGRP	16	67516936	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	230328	67516936	22837817	1570	19241											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67861807	67861807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacgagaaggaagaagccGtggtggaaatcctccagact	14	8	0	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:67861807G>A	uc002euj.2	+	16	2282	c.1888G>A	c.(1888-1890)GTG>ATG	p.V630M	TSNAXIP1_uc002euf.3_3'UTR|TSNAXIP1_uc010vka.1_Missense_Mutation_p.V684M|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.V615M|TSNAXIP1_uc002eug.3_Missense_Mutation_p.V338M|TSNAXIP1_uc002euh.3_Missense_Mutation_p.V338M|TSNAXIP1_uc002eui.3_Missense_Mutation_p.V338M|TSNAXIP1_uc002euk.2_Missense_Mutation_p.V363M	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	630					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GGAAGAAGCCGTGGTGGAAAT	0.592													A	67861807	G	A	67861807	3	1	20	1	0	0	0	0	1	0	0	0	16629	1145	40	1	1942	1	TSNAXIP1	16	67861807	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	344871	67861807	22492946	1571	19242											
NUTF2	10204	broad.mit.edu	37	chr16	67904812	67904812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcgccctgcacaactttgGctgacctcctctcagctagg	9	16	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:67904812G>A	uc002eup.2	+	5	479	c.380G>A	c.(379-381)GGC>GAC	p.G127D	NUTF2_uc002euq.3_RNA|EDC4_uc002eur.2_5'Flank|EDC4_uc010cer.2_5'Flank|EDC4_uc010vkg.1_5'Flank	NM_005796	NP_005787	P61970	NTF2_HUMAN	nuclear transport factor 2	127					protein transport	cytosol|nuclear pore	protein binding|transporter activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		CACAACTTTGGCTGACCTCCT	0.502													A	67904812	G	A	67904812	3	1	20	1	0	0	0	0	1	0	0	0	10779	1203	42	2	394	2	NUTF2	16	67904812	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	43005	67904812	22449941	1572	19243											
EDC4	23644	broad.mit.edu	37	chr16	67916384	67916384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacacattacaagggccgaTgcaggctgcctaccgggaag	13	11	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:67916384T>C	uc002eur.2	+	25	3495	c.3329T>C	c.(3328-3330)ATG>ACG	p.M1110T	EDC4_uc010cer.2_Missense_Mutation_p.M729T|EDC4_uc002eus.2_Missense_Mutation_p.M840T|EDC4_uc002eut.1_Missense_Mutation_p.M1T|NRN1L_uc002euu.2_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	1110					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CAAGGGCCGATGCAGGCTGCC	0.592													C	67916384	T	C	67916384	3	2	20	1	0	0	0	0	1	0	0	0	4908	1464	51	3	3427	3	EDC4	16	67916384	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	11572	67916384	22438369	1573	19244											
LCAT	3931	broad.mit.edu	37	chr16	67976607	67976607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtcatagggggcggcgcGcacagtctcgtcccgcacgt	14	15	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:67976607G>A	uc002euy.1	-	4	501	c.490C>T	c.(490-492)CGC>TGC	p.R164C		NM_000229	NP_000220	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase precursor	164			R -> C (in LCATD).|R -> H (in LCATD; also in a compound heterozygote carrying R-95 with intermediate phenotype between LCATD and FED; loss of activity).		cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GGGGCGGCGCGCACAGTCTCG	0.687													A	67976607	G	A	67976607	3	1	20	1	0	0	0	0	1	0	0	0	8658	1087	38	1	844	1	LCAT	16	67976607	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	60223	67976607	22378146	1574	19245											
WWP2	11060	broad.mit.edu	37	chr16	69969758	69969758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctcttccttcccaggcGctgtaccatggaaagttcat	9	13	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:69969758G>A	uc002exu.1	+	19	1934	c.1845G>A	c.(1843-1845)GCG>GCA	p.A615A	WWP2_uc002exv.1_Silent_p.A615A|WWP2_uc010vlm.1_Silent_p.A499A|WWP2_uc010vln.1_Silent_p.A233A|WWP2_uc002exw.1_Silent_p.A176A	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	615	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			lung(3)|ovary(1)|breast(1)|skin(1)	6						CTTCCCAGGCGCTGTACCATG	0.552													A	69969758	G	A	69969758	2	1	20	1	0	0	0	0	0	0	0	1	17413	1074	38	1		1	WWP2	16	69969758	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1993151	69969758	20384995	1575	19246											
MTSS1L	92154	broad.mit.edu	37	chr16	70708260	70708260	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggcttggagtaggtggcGtcctgggagacgaagccaga	20	7	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:70708260G>A	uc002ezj.2	-	11	1262	c.1002C>T	c.(1000-1002)GAC>GAT	p.D334D		NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	334	Ser-rich.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1						AGTAGGTGGCGTCCTGGGAGA	0.642													A	70708260	G	A	70708260	2	1	20	1	0	0	0	0	0	0	0	1	9963	1136	40	1		1	MTSS1L	16	70708260	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	738502	70708260	19646493	1576	19247											
FTSJD1	55783	broad.mit.edu	37	chr16	71317725	71317725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattcacactctgcaaatatCggaaaactggatttggaagg	9	8	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:71317725C>T	uc010cga.2	-	3	2505	c.2099G>A	c.(2098-2100)CGA>CAA	p.R700Q	FTSJD1_uc002ezy.3_Missense_Mutation_p.R700Q|FTSJD1_uc002ezz.3_Missense_Mutation_p.R700Q	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN	FtsJ methyltransferase domain containing 1	700						integral to membrane	methyltransferase activity|nucleic acid binding			skin(1)	1						CTGCAAATATCGGAAAACTGG	0.468													T	71317725	C	T	71317725	3	4	20	1	0	0	0	0	1	0	0	0	6090	884	31	1	217	1	FTSJD1	16	71317725	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	609465	71317725	19037028	1577	19248											
PHLPP2	23035	broad.mit.edu	37	chr16	71683763	71683763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaatgggtcttgtacgtgaCgtacagcattgacagcttct	10	9	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:71683763C>T	uc002fax.2	-	18	3008	c.3002G>A	c.(3001-3003)CGT>CAT	p.R1001H	PHLPP2_uc002fav.2_Intron|PHLPP2_uc010cgf.2_Missense_Mutation_p.R934H	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	1001	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						TTGTACGTGACGTACAGCATT	0.463													T	71683763	C	T	71683763	3	4	20	1	0	0	0	0	1	0	0	0	11855	536	19	1	973	1	PHLPP2	16	71683763	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	366038	71683763	18670990	1578	19249											
PMFBP1	83449	broad.mit.edu	37	chr16	72173266	72173266	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggaagcaaaatcggcttgTagttttatcaaagccttttc	8	8	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:72173266T>C	uc002fcc.3	-	7	1012	c.840A>G	c.(838-840)CTA>CTG	p.L280L	PMFBP1_uc002fcd.2_Silent_p.L280L|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Silent_p.L135L	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	280										ovary(2)	2		Ovarian(137;0.179)				AATCGGCTTGTAGTTTTATCA	0.428													C	72173266	T	C	72173266	2	2	20	1	0	0	0	0	0	0	0	1	12134	1625	57	3		3	PMFBP1	16	72173266	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	489503	72173266	18181487	1579	19250											
ZFP1	162239	broad.mit.edu	37	chr16	75203278	75203278	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatctctttggaaaagcactTaatctgaacacagactttgt	7	8	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:75203278T>C	uc002fdo.2	+	4	434	c.270T>C	c.(268-270)CTT>CTC	p.L90L	ZFP1_uc002fdp.2_Silent_p.L35L|ZFP1_uc010cgt.2_Silent_p.L57L|ZFP1_uc010cgs.2_Silent_p.L35L|ZFP1_uc002fdq.2_Silent_p.L90L	NM_153688	NP_710155	Q6P2D0	ZFP1_HUMAN	zinc finger protein 1 homolog	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						GAAAAGCACTTAATCTGAACA	0.343													C	75203278	T	C	75203278	2	2	20	1	0	0	0	0	0	0	0	1	17633	1741	61	3		3	ZFP1	16	75203278	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3030012	75203278	15151475	1580	19251											
PKD1L2	114780	broad.mit.edu	37	chr16	81249951	81249951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgtcaggggcagcggcgGcctgccctccatgccagttg	16	13	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:81249951G>A	uc002fgh.1	-	2	362	c.362C>T	c.(361-363)GCC>GTC	p.A121V	PKD1L2_uc002fgj.2_Missense_Mutation_p.A121V	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	121	Extracellular (Potential).|C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GGCAGCGGCGGCCTGCCCTCC	0.632													A	81249951	G	A	81249951	3	1	20	1	0	0	0	0	1	0	0	0	11965	1203	42	2	7254	2	PKD1L2	16	81249951	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	6046673	81249951	9104802	1581	19252											
PLCG2	5336	broad.mit.edu	37	chr16	81934374	81934376	+	In_Frame_Del	DEL	ATC	ATC	-													ccagccagctgcgggagaagAtcatcatcaaggtaggcacc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:81934374_81934376delATC	uc002fgt.2	+	14	1503_1505	c.1351_1353delATC	c.(1351-1353)ATCdel	p.I453del	PLCG2_uc010chg.1_In_Frame_Del_p.I453del	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	453	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						GCGGGAGAAGATCATCATCAAGG	0.626													-	81934376	ATC	-	81934374	7	5	20	1	0	1	0	1	0	0	0	0	12036	333	12	0	1401	0	PLCG2	16	81934374	In_Frame_Del	DEL	ATC	TCGA-BR-4362-01A-01D-1158-08	684423	81934374	8420379	1582	19253											
MLYCD	23417	broad.mit.edu	37	chr16	83948956	83948956	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggcatcaccggctcctgCggcctgatggccaactaccg	12	15	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:83948956C>T	uc002fgz.2	+	5	1364	c.1344C>T	c.(1342-1344)TGC>TGT	p.C448C		NM_012213	NP_036345	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase precursor	448					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity				0						CCGGCTCCTGCGGCCTGATGG	0.627													T	83948956	C	T	83948956	2	4	20	1	0	0	0	0	0	0	0	1	9638	776	27	1		1	MLYCD	16	83948956	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2014582	83948956	6405797	1583	19254											
ATP2C2	9914	broad.mit.edu	37	chr16	84494378	84494378	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccgcggccatcatcatcAgcgggaccctctttatcttc	8	15	5	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:84494378A>G	uc002fhx.2	+	24	2541	c.2452A>G	c.(2452-2454)AGC>GGC	p.S818G	ATP2C2_uc010chj.2_Missense_Mutation_p.S847G|ATP2C2_uc002fhy.2_Missense_Mutation_p.S835G|ATP2C2_uc002fhz.2_Missense_Mutation_p.S667G|ATP2C2_uc002fia.2_Missense_Mutation_p.S129G	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	818	Helical; Name=7; (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2						CATCATCATCAGCGGGACCCT	0.587													G	84494378	A	G	84494378	3	3	20	1	0	0	0	0	1	0	0	0	1144	188	7	3	2546	3	ATP2C2	16	84494378	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	545422	84494378	5860375	1584	19255											
FOXF1	2294	broad.mit.edu	37	chr16	86544748	86544748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctggcgctggagggcggCctgggcatgatgaacggcca	18	11	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:86544748C>T	uc002fjl.2	+	1	616	c.573C>T	c.(571-573)GGC>GGT	p.G191G	uc002fjk.1_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	191					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0						TGGAGGGCGGCCTGGGCATGA	0.706													T	86544748	C	T	86544748	2	4	20	1	0	0	0	0	0	0	0	1	6005	726	26	2		2	FOXF1	16	86544748	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2050370	86544748	3810005	1585	19256											
MTHFSD	64779	broad.mit.edu	37	chr16	86565850	86565850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggttcccaacgtaaacatCggctgcaagcggggcaccct	12	13	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:86565850C>T	uc002fjn.2	-	8	970	c.919G>A	c.(919-921)GAT>AAT	p.D307N	MTHFSD_uc010voo.1_Missense_Mutation_p.D287N|MTHFSD_uc002fjo.2_Missense_Mutation_p.D144N|MTHFSD_uc002fjm.2_Missense_Mutation_p.D306N|MTHFSD_uc010vop.1_Missense_Mutation_p.D144N|MTHFSD_uc010voq.1_Missense_Mutation_p.D306N|MTHFSD_uc010vor.1_Missense_Mutation_p.D307N	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain	307	RRM.				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding				0						ACGTAAACATCGGCTGCAAGC	0.682													T	86565850	C	T	86565850	3	4	20	1	0	0	0	0	1	0	0	0	9933	884	31	1	236	1	MTHFSD	16	86565850	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	21102	86565850	3788903	1586	19257											
JPH3	57338	broad.mit.edu	37	chr16	87677940	87677940	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtcccgtatggcatggcCgcggtcatccgctcacccct	11	17	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:87677940C>T	uc002fkd.2	+	2	713	c.459C>T	c.(457-459)GCC>GCT	p.A153A	JPH3_uc010vou.1_RNA	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	153	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)		ATGGCATGGCCGCGGTCATCC	0.692													T	87677940	C	T	87677940	2	4	20	1	0	0	0	0	0	0	0	1	7962	639	23	1		1	JPH3	16	87677940	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1112090	87677940	2676813	1587	19258											
KLHDC4	54758	broad.mit.edu	37	chr16	87743249	87743249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttttctgccccgcctgcGtttcttcttttcagacttgg	7	14	5	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:87743249G>A	uc002fki.2	-	10	1115	c.1069C>T	c.(1069-1071)CGC>TGC	p.R357C	KLHDC4_uc002fkh.1_RNA|KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Missense_Mutation_p.R326C|KLHDC4_uc002fkk.2_Missense_Mutation_p.R176C|KLHDC4_uc002fkl.2_Missense_Mutation_p.R300C|KLHDC4_uc010chu.1_Missense_Mutation_p.R176C	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	357	Kelch 5.									pancreas(2)	2				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CCCCGCCTGCGTTTCTTCTTT	0.612													A	87743249	G	A	87743249	3	1	20	1	0	0	0	0	1	0	0	0	8358	1145	40	1	501	1	KLHDC4	16	87743249	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	65309	87743249	2611504	1588	19259											
PRPF8	10594	broad.mit.edu	37	chr17	1579567	1579567	+	Frame_Shift_Del	DEL	G	G	-													tgtcatgcttataggagagtGgggggaatgggatgggtgaa							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:1579566_1579566TG>T	uc002fte.3	-	16	2601	c.2487_2487CA>A	c.(2485-2487)ccafs	p.P829fs		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	829						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding	p.P829Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TATAGGAGAGTGGGGGGAATG	0.522													-	1579567	G	-	1579567	7	5	20	1	0	1	0	1	0	0	0	0	12575	1348	47	0	4629	0	PRPF8	17	1579567	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08		1579567	79615643	1589	19260											
SRR	63826	broad.mit.edu	37	chr17	2227145	2227145	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcaggctgaaaggccagcttCttatcagtctgtttctgttt	10	9	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:2227145C>T	uc002fue.1	+	8	1069	c.1001C>T	c.(1000-1002)TCT>TTT	p.S334F	SRR_uc002fui.1_Missense_Mutation_p.S185F|TSR1_uc002fuj.2_3'UTR	NM_021947	NP_068766	Q9GZT4	SRR_HUMAN	serine racemase	334					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity				0		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AGGCCAGCTTCTTATCAGTCT	0.388													T	2227145	C	T	2227145	3	4	20	1	0	0	0	0	1	0	0	0	15165	913	32	4	1027	4	SRR	17	2227145	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	647578	2227145	78968065	1590	19261											
SGSM2	9905	broad.mit.edu	37	chr17	2279017	2279019	+	In_Frame_Del	DEL	GAG	GAG	-													ggcagagcgtgggcttcgaaGaggaggacggcggtggggag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:2279016_2279018AGAG>A	uc002fum.4	+	17	2508_2510	c.2331_2333AGAG>A	c.(2329-2334)gaagag>gaAg	p.777_778EE>E	SGSM2_uc002fun.4_In_Frame_Del_p.732_733EE>E|SGSM2_uc010vqw.2_In_Frame_Del_p.732_733EE>E|SGSM2_uc002fuq.3_5'Flank	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	732	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TGGGCTTCGAAGAGGAGGACGGC	0.645													-	2279019	GAG	-	2279017	7	5	20	1	0	1	0	1	0	0	0	0	14223	943	33	0	2402	0	SGSM2	17	2279017	In_Frame_Del	DEL	GAG	TCGA-BR-4362-01A-01D-1158-08	51872	2279017	78916193	1591	19262											
MYBBP1A	10514	broad.mit.edu	37	chr17	4444821	4444832	+	In_Frame_Del	DEL	CTGCGCCTTGGT	CTGCGCCTTGGT	-													gaggacagtgcctgctgatgCtgcgccttggtctgcgcctc					rs146114729		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:4444820_4444831GCTGCGCCTTGGT>G	uc002fxz.4	-	23	3286_3297	c.3224_3235ACCAAGGCGCAGC>C	c.(3223-3237)accaaggcgcagcat>aCat	p.KAQH1076del	MYBBP1A_uc002fyb.4_In_Frame_Del_p.KAQH1076del|MYBBP1A_uc002fya.4_In_Frame_Del_p.KAQH21del|MYBBP1A_uc010vsa.2_In_Frame_Del_p.KAQH118del	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	1076					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	p.A1077A(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GCCTGCTGATGCTGCGCCTTGGTCTGCGCCTC	0.627													-	4444832	CTGCGCCTTGGT	-	4444821	7	5	20	1	0	1	0	1	0	0	0	0	10008	796	28	0	804	0	MYBBP1A	17	4444821	In_Frame_Del	DEL	CTGCGCCTTGGT	TCGA-BR-4362-01A-01D-1158-08	2165804	4444821	76750389	1592	19263											
SLC25A11	8402	broad.mit.edu	37	chr17	4842264	4842264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgacgcagcaggccagcCgacagcctgaggagcagagg	16	13	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:4842264C>T	uc002fzo.1	-	3	368	c.255G>A	c.(253-255)TCG>TCA	p.S85S	SLC25A11_uc002fzp.1_Silent_p.S81S|RNF167_uc002fzq.2_5'Flank|RNF167_uc002fzr.2_5'Flank|RNF167_uc002fzs.2_5'Flank|RNF167_uc002fzt.2_5'Flank|RNF167_uc002fzu.2_5'Flank|RNF167_uc002fzv.2_5'Flank|RNF167_uc002fzw.1_5'Flank|RNF167_uc002fzx.2_5'Flank	NM_003562	NP_003553	Q02978	M2OM_HUMAN	solute carrier family 25 member 11 isoform 1	85	Helical; Name=2; (Potential).|Solcar 1.				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity				0						GCAGGCCAGCCGACAGCCTGA	0.602													T	4842264	C	T	4842264	2	4	20	1	0	0	0	0	0	0	0	1	14473	639	23	1		1	SLC25A11	17	4842264	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	397443	4842264	76352946	1593	19264											
ZNF594	84622	broad.mit.edu	37	chr17	5086767	5086767	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attcatagggtttctctccaGtgtgaattctgtgatgtata	9	6	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:5086767G>C	uc010cla.1	-	2	941	c.785C>G	c.(784-786)ACT>AGT	p.T262S		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						TTTCTCTCCAGTGTGAATTCT	0.428													C	5086767	G	C	5086767	3	2	20	1	0	0	0	0	1	0	0	0	18021	1029	36	5	1642	5	ZNF594	17	5086767	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	244503	5086767	76108443	1594	19265											
NUP88	4927	broad.mit.edu	37	chr17	5290760	5290760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcatatttgtcagctaaaCgctcagccatttcccgcaga	6	14	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:5290760C>T	uc002gbo.1	-	14	1888	c.1862G>A	c.(1861-1863)CGT>CAT	p.R621H	NUP88_uc002gbn.2_5'Flank|NUP88_uc010vsx.1_Missense_Mutation_p.R637H	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	621	Potential.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1						GTCAGCTAAACGCTCAGCCAT	0.428													T	5290760	C	T	5290760	3	4	20	1	0	0	0	0	1	0	0	0	10771	536	19	1	379	1	NUP88	17	5290760	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	203993	5290760	75904450	1595	19266											
NLRP1	22861	broad.mit.edu	37	chr17	5462268	5462268	+	Frame_Shift_Del	DEL	T	T	-													catctggactgaaaagggtcTttttttgccagatgccctca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:5462267_5462267CT>C	uc002gci.3	-	3	2304	c.1749_1749AG>G	c.(1747-1749)aagfs	p.K583fs	NLRP1_uc002gcg.1_Frame_Shift_Del_p.K583fs|NLRP1_uc002gch.4_Frame_Shift_Del_p.K583fs|NLRP1_uc002gck.3_Frame_Shift_Del_p.K583fs|NLRP1_uc002gcj.3_Frame_Shift_Del_p.K583fs|NLRP1_uc002gcl.3_Frame_Shift_Del_p.K583fs|NLRP1_uc010clh.3_Frame_Shift_Del_p.K583fs	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	583	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.K582T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGAAAAGGGTCTTTTTTTGCC	0.532													-	5462268	T	-	5462268	7	5	20	1	0	1	0	1	0	0	0	0	10471	1609	56	0	2804	0	NLRP1	17	5462268	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	171508	5462268	75732942	1596	19267											
ALOX12	239	broad.mit.edu	37	chr17	6905060	6905060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtatcacttgctgaacaCtcacctggtggctgaggtca	10	12	3	2	rs143493293	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:6905060C>T	uc002gdx.3	+	8	1144	c.1091C>T	c.(1090-1092)ACT>ATT	p.T364I	uc002gdy.1_RNA	NM_000697	NP_000688	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	364	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			central_nervous_system(1)	1						TTGCTGAACACTCACCTGGTG	0.527													T	6905060	C	T	6905060	3	4	20	1	0	0	0	0	1	0	0	0	536	565	20	4	1121	4	ALOX12	17	6905060	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1442792	6905060	74290150	1597	19268											
BCL6B	255877	broad.mit.edu	37	chr17	6927125	6927125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtcacgctgctggttggCgggcaacccctcagagcaca	13	14	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:6927125C>T	uc002geg.2	+	2	192	c.135C>T	c.(133-135)GGC>GGT	p.G45G	BCL6B_uc010clt.1_Silent_p.G45G	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	45	BTB.					nucleus	zinc ion binding			skin(1)	1						TGCTGGTTGGCGGGCAACCCC	0.667													T	6927125	C	T	6927125	2	4	20	1	0	0	0	0	0	0	0	1	1377	755	27	1		1	BCL6B	17	6927125	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	22065	6927125	74268085	1598	19269											
ACAP1	9744	broad.mit.edu	37	chr17	7249758	7249759	+	Frame_Shift_Del	DEL	CT	CT	-													ttcgtctctgcacagtgaaaCtctgccctgactcagaaagg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:7249757_7249758ACT>A	uc002ggd.2	+	11	1160_1161	c.954_955ACT>A	c.(952-957)aaactcfs	p.K318fs		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	318	PH.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GCACAGTGAAACTCTGCCCTGA	0.53											OREG0024135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	7249759	CT	-	7249758	7	5	20	1	0	1	0	1	0	0	0	0	118	565	20	0	1001	0	ACAP1	17	7249758	Frame_Shift_Del	DEL	CT	TCGA-BR-4362-01A-01D-1158-08	322633	7249758	73945452	1599	19270											
ACAP1	9744	broad.mit.edu	37	chr17	7253540	7253540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccatggaaacagccaacGctgacatcgtcaccctgtaa	8	14	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:7253540G>A	uc002ggd.2	+	20	2262	c.2056G>A	c.(2056-2058)GCT>ACT	p.A686T	KCTD11_uc002gge.3_5'Flank	NM_014716	NP_055531	Q15027	ACAP1_HUMAN	centaurin beta1	686	Required for interaction with GULP1.|ANK 3.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			breast(2)|large_intestine(1)	3						AACAGCCAACGCTGACATCGT	0.677													A	7253540	G	A	7253540	3	1	20	1	0	0	0	0	1	0	0	0	118	1087	38	1	2134	1	ACAP1	17	7253540	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3782	7253540	73941670	1600	19271											
POLR2A	5430	broad.mit.edu	37	chr17	7404634	7404634	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctattggcattggggactccAttgctgattctaagacttac	9	9	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:7404634A>G	uc002ghf.3	+	13	2311	c.2077A>G	c.(2077-2079)ATT>GTT	p.I693V		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	693					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)				TGGGGACTCCATTGCTGATTC	0.448													G	7404634	A	G	7404634	3	3	20	1	0	0	0	0	1	0	0	0	12214	217	8	3	2127	3	POLR2A	17	7404634	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	151094	7404634	73790576	1601	19272											
KDM6B	23135	broad.mit.edu	37	chr17	7756423	7756423	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtcaaggacgagccagcCtactactgcaacgagtgcga	12	12	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:7756423C>A	uc002giw.1	+	21	5092	c.4716C>A	c.(4714-4716)GCC>GCA	p.A1572A	KDM6B_uc002gix.2_Silent_p.A874A|TMEM88_uc002giy.2_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1572					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						ACGAGCCAGCCTACTACTGCA	0.637													A	7756423	C	A	7756423	2	1	20	1	0	0	0	0	0	0	0	1	8138	668	24	5		5	KDM6B	17	7756423	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	351789	7756423	73438787	1602	19273											
ALOXE3	59344	broad.mit.edu	37	chr17	8000064	8000064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcggctctggaaggcggCgatgctccgcctcggggcct	17	14	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:8000064C>T	uc010cnr.2	-	16	2387	c.2017G>A	c.(2017-2019)GCC>ACC	p.A673T	ALOXE3_uc002gka.2_Missense_Mutation_p.A829T|ALOXE3_uc010vuo.1_Missense_Mutation_p.A805T	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3 isoform 2	673	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			skin(3)|lung(1)|central_nervous_system(1)	5						TGGAAGGCGGCGATGCTCCGC	0.622													T	8000064	C	T	8000064	3	4	20	1	0	0	0	0	1	0	0	0	542	768	27	1	122	1	ALOXE3	17	8000064	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	243641	8000064	73195146	1603	19274											
TMEM107	84314	broad.mit.edu	37	chr17	8077872	8077872	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtaccaatacgtagtgcActcccaacgctcgaatatga	7	11	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:8077872A>G	uc002gkg.3	-	4	429	c.319T>C	c.(319-321)TGC>CGC	p.C107R	TMEM107_uc002gkh.3_Missense_Mutation_p.C113R|TMEM107_uc002gki.3_Missense_Mutation_p.C113R|TMEM107_uc002gkj.3_Intron|TMEM107_uc002gkk.2_3'UTR	NM_183065	NP_898888	Q6UX40	TM107_HUMAN	transmembrane protein 107 isoform 2	107						integral to membrane					0						TACGTAGTGCACTCCCAACGC	0.498													G	8077872	A	G	8077872	3	3	20	1	0	0	0	0	1	0	0	0	16020	159	6	3	111	3	TMEM107	17	8077872	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	77808	8077872	73117338	1604	19275											
C17orf68	80169	broad.mit.edu	37	chr17	8140698	8140698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccccagtcctcacctgcaCgatgatggacacgtgggtga	12	13	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:8140698C>T	uc002gkq.3	-	5	846	c.787G>A	c.(787-789)GTG>ATG	p.V263M	C17orf68_uc010cnv.2_RNA	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	alpha accessory factor 132	263					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding				0						CTCACCTGCACGATGATGGAC	0.488													T	8140698	C	T	8140698	3	4	20	1	0	0	0	0	1	0	0	0	1876	536	19	1	2942	1	C17orf68	17	8140698	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	62826	8140698	73054512	1605	19276											
ARHGEF15	22899	broad.mit.edu	37	chr17	8215907	8215908	+	Frame_Shift_Del	DEL	GA	GA	-													cgagagcagatgtgaatgggGagagagaagctcccctcacc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:8215906_8215907GGA>G	uc002glc.3	+	1	704_705	c.549_550GGA>G	c.(547-552)ggggagfs	p.G183fs	ARHGEF15_uc002glb.2_Frame_Shift_Del_p.G183fs|ARHGEF15_uc002gld.3_Frame_Shift_Del_p.G183fs|ARHGEF15_uc010vuw.2_Frame_Shift_Del_p.G183fs	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	183					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						ATGTGAATGGGGAGAGAGAAGC	0.649													-	8215908	GA	-	8215907	7	5	20	1	0	1	0	1	0	0	0	0	898	1175	41	0	552	0	ARHGEF15	17	8215907	Frame_Shift_Del	DEL	GA	TCGA-BR-4362-01A-01D-1158-08	75209	8215907	72979303	1606	19277											
NDEL1	81565	broad.mit.edu	37	chr17	8350200	8350200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctggagcaggccaacgaCgacctggagcgagccaaaag	15	11	0	0	rs146379947	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:8350200C>T	uc002glj.2	+	4	566	c.369C>T	c.(367-369)GAC>GAT	p.D123D	NDEL1_uc002gli.2_Silent_p.D123D	NM_030808	NP_110435	Q9GZM8	NDEL1_HUMAN	nudE nuclear distribution gene E homolog (A.	123	Required for interaction with PAFAH1B1.|Interaction with KATNB1 (By similarity).|Potential.|Self-association (By similarity).				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle					0						AGGCCAACGACGACCTGGAGC	0.428													T	8350200	C	T	8350200	2	4	20	1	0	0	0	0	0	0	0	1	10244	535	19	1		1	NDEL1	17	8350200	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	134293	8350200	72845010	1607	19278											
MYH8	4626	broad.mit.edu	37	chr17	10304992	10304992	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcagctcagcattgatctcTtcctcctcctcagctctttc	5	16	5	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:10304992T>G	uc002gmm.2	-	23	2894	c.2799A>C	c.(2797-2799)GAA>GAC	p.E933D	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	933	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						CATTGATCTCTTCCTCCTCCT	0.453									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				G	10304992	T	G	10304992	3	3	20	1	0	0	0	0	1	0	0	0	10041	1606	56	5	3086	5	MYH8	17	10304992	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1954792	10304992	70890218	1608	19279											
MYH8	4626	broad.mit.edu	37	chr17	10315783	10315783	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgcgggtgaccatccaCaggaacatcttctcgtagac	10	11	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:10315783C>T	uc002gmm.2	-	14	1415	c.1320G>A	c.(1318-1320)CTG>CTA	p.L440L	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	440	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						TGACCATCCACAGGAACATCT	0.493									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				T	10315783	C	T	10315783	2	4	20	1	0	0	0	0	0	0	0	1	10041	465	17	4		4	MYH8	17	10315783	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	10791	10315783	70879427	1609	19280											
MAP2K4	6416	broad.mit.edu	37	chr17	11984731	11984731	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgaagatctcccctgaaCaacactgggatttcactgca	7	12	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:11984731C>T	uc002gnj.2	+	3	346	c.277C>T	c.(277-279)CAA>TAA	p.Q93*	MAP2K4_uc002gnk.2_Nonsense_Mutation_p.Q104*|MAP2K4_uc010vvi.1_5'UTR|MAP2K4_uc010vvj.1_Intron|MIR744_hsa-mir-744|MI0005559_5'Flank	NM_003010	NP_003001	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	93					cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(1)		large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	58		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CTCCCCTGAACAACACTGGGA	0.418			D|Mis|N		pancreatic|breast|colorectal								T	11984731	C	T	11984731	4	4	20	1	0	0	0	0	0	1	0	0	9239	479	17	4	287	4	MAP2K4	17	11984731	Nonsense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1668948	11984731	69210479	1610	19281											
MAP2K4	6416	broad.mit.edu	37	chr17	12028611	12028611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttgtctttatgttccagCctgaaagaatagacccaagc	7	11	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:12028611C>T	uc002gnj.2	+	8	883	c.814C>T	c.(814-816)CCT>TCT	p.P272S	MAP2K4_uc002gnk.2_Missense_Mutation_p.P283S|MAP2K4_uc010vvi.1_Missense_Mutation_p.P154S|MAP2K4_uc010vvj.1_Missense_Mutation_p.P144S	NM_003010	NP_003001	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	272	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(3)		large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	58		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TATGTTCCAGCCTGAAAGAAT	0.423			D|Mis|N		pancreatic|breast|colorectal								T	12028611	C	T	12028611	3	4	20	1	0	0	0	0	1	0	0	0	9239	753	26	2	844	2	MAP2K4	17	12028611	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	43880	12028611	69166599	1611	19282											
CDRT4	284040	broad.mit.edu	37	chr17	15341231	15341231	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggagccatggccaatacCgaataagcgccccacattga	10	12	0	1	rs149000474	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:15341231C>T	uc002gop.1	-	4	596	c.315G>A	c.(313-315)TCG>TCA	p.S105S	CDRT4_uc010vvw.1_3'UTR	NM_173622	NP_775893	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	105											0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		TGGCCAATACCGAATAAGCGC	0.483													T	15341231	C	T	15341231	2	4	20	1	0	0	0	0	0	0	0	1	3176	639	23	1		1	CDRT4	17	15341231	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	3312620	15341231	65853979	1612	19283											
TRIM16	10626	broad.mit.edu	37	chr17	15516133	15516133	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gatcaattcctcttgtatagGacccctggaaaaacaaaaaa	6	9	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:15516133G>T	uc002gor.1	-	11	2271	c.1934C>A	c.(1933-1935)TCC>TAC	p.S645Y	CDRT1_uc002gov.3_Missense_Mutation_p.S335Y			O95361	TRI16_HUMAN	SubName: Full=Putative uncharacterized protein; Flags: Fragment;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding			ovary(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		TCTTGTATAGGACCCCTGGaa	0.373													T	15516133	G	T	15516133	3	4	20	1	0	0	0	0	1	0	0	0	16488	1174	41	5		5	TRIM16	17	15516133	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	174902	15516133	65679077	1613	19284											
RAI1	10743	broad.mit.edu	37	chr17	17696716	17696716	+	Frame_Shift_Del	DEL	C	C	-													tgatgaaaaagacagcagtgCcccccagcaggcagtatgca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:17696715_17696715GC>G	uc002grm.3	+	2	922	c.453_453GC>G	c.(451-453)gtgfs	p.V151fs	RAI1_uc002grn.1_Frame_Shift_Del_p.V151fs	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	151						cytoplasm|nucleus	zinc ion binding	p.V151M(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGACAGCAGTGCCCCCCAGCA	0.652													-	17696716	C	-	17696716	7	5	20	1	0	1	0	1	0	0	0	0	13007	739	26	0	456	0	RAI1	17	17696716	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	2180583	17696716	63498494	1614	19285											
RAI1	10743	broad.mit.edu	37	chr17	17700590	17700590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggggggactgccctggCgcctaagaagaggagccgga	18	11	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:17700590C>T	uc002grm.2	+	3	4797	c.4328C>T	c.(4327-4329)GCG>GTG	p.A1443V	RAI1_uc002grn.1_Missense_Mutation_p.A1443V	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1443						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		ACTGCCCTGGCGCCTAAGAAG	0.612													T	17700590	C	T	17700590	3	4	20	1	0	0	0	0	1	0	0	0	13007	768	27	1	4330	1	RAI1	17	17700590	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	3874	17700590	63494620	1615	19286											
SMCR8	140775	broad.mit.edu	37	chr17	18220589	18220589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggcaagcctcacagtaCcattgagcccccaggtggtc	11	15	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:18220589C>T	uc002gsy.3	+	1	1996	c.1486C>T	c.(1486-1488)CCA>TCA	p.P496S		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region,	496										central_nervous_system(1)	1						CCTCACAGTACCATTGAGCCC	0.537													T	18220589	C	T	18220589	3	4	20	1	0	0	0	0	1	0	0	0	14792	507	18	4	1488	4	SMCR8	17	18220589	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	519999	18220589	62974621	1616	19287											
SHMT1	6470	broad.mit.edu	37	chr17	18259317	18259317	+	Splice_Site	DEL	A	A	-													gcactggttcgaagctgcctAaaaaaatgggaaaaacatgt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:18259316_18259316TA>T	uc002gta.3	-	2	172	c.-18_splice	c.e2-1		SHMT1_uc002gtb.3_Splice_Site|SHMT1_uc010vxt.2_Splice_Site|SHMT1_uc002gtd.1_Splice_Site|SHMT1_uc010vxu.1_Splice_Site	NM_004169	NP_004160	P34896	GLYC_HUMAN	Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.						L-serine catabolic process|carnitine biosynthetic process|folic acid metabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CGAAGCTGCCTAAAAAAATGG	0.408													-	18259317	A	-	18259317	8	5	20	1	0	1	0	1	0	0	1	0	14285	377	13	0		0	SHMT1	17	18259317	Splice_Site	DEL	A	TCGA-BR-4362-01A-01D-1158-08	38728	18259317	62935893	1617	19288											
EPN2	22905	broad.mit.edu	37	chr17	19216468	19216468	+	Frame_Shift_Del	DEL	C	C	-													ttggatttaatggatgctctCcccagctcgggccccgcggc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:19216467_19216467TC>T	uc002gvd.4	+	6	1470	c.1022_1022TC>T	c.(1021-1023)ctcfs	p.L341fs	EPN2_uc010cql.1_Frame_Shift_Del_p.L50fs|EPN2_uc002gve.4_Frame_Shift_Del_p.L284fs|EPN2_uc002gvf.4_Frame_Shift_Del_p.L56fs|EPN2_uc010vyo.2_Frame_Shift_Del_p.L49fs|EPN2_uc002gvh.1_Frame_Shift_Del_p.L341fs|EPN2_uc010vyp.2_Frame_Shift_Del_p.L277fs|EPN2_uc010vyq.2_Frame_Shift_Del_p.L278fs|EPN2_uc002gvj.3_Frame_Shift_Del_p.L4fs	NM_014964	NP_001096134	O95208	EPN2_HUMAN	Homo sapiens epsin 2 (EPN2), transcript variant 2, mRNA.	341					endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					ATGGATGCTCTCCCCAGCTCG	0.592													-	19216468	C	-	19216468	7	5	20	1	0	1	0	1	0	0	0	0	5186	842	30	0	1041	0	EPN2	17	19216468	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	957151	19216468	61978742	1618	19289											
SLC47A2	146802	broad.mit.edu	37	chr17	19618075	19618075	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccgaagacaaaccaactcCtacagaaactccgcagacat	6	14	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:19618075C>A	uc002gwe.3	-	3	428	c.253G>T	c.(253-255)GGA>TGA	p.G85*	SLC47A2_uc002gwg.3_Nonsense_Mutation_p.G85*|SLC47A2_uc002gwf.3_Nonsense_Mutation_p.G85*|SLC47A2_uc002gwh.3_RNA|SLC47A2_uc002gwi.2_RNA|SLC47A2_uc010cqs.1_RNA|SLC47A2_uc010cqt.1_RNA	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	solute carrier family 47, member 2 isoform 1	85	Helical; (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					AAACCAACTCCTACAGAAACT	0.572													A	19618075	C	A	19618075	4	1	20	1	0	0	0	0	0	1	0	0	14648	690	24	5	1615	5	SLC47A2	17	19618075	Nonsense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	401607	19618075	61577135	1619	19290											
ALDH3A1	218	broad.mit.edu	37	chr17	19645383	19645383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttccctcccagctccagcGtgacaggggtcaggtgcttg	12	14	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:19645383G>A	uc010cqu.2	-	4	953	c.623C>T	c.(622-624)ACG>ATG	p.T208M	ALDH3A1_uc010vzd.1_Missense_Mutation_p.T208M|ALDH3A1_uc002gwj.2_Missense_Mutation_p.T208M|ALDH3A1_uc010cqv.2_Missense_Mutation_p.T208M|ALDH3A1_uc002gwk.2_Missense_Mutation_p.T325M|ALDH3A1_uc002gwl.1_Missense_Mutation_p.T135M	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3A1	208					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(1)|pancreas(1)	2	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CAGCTCCAGCGTGACAGGGGT	0.632													A	19645383	G	A	19645383	3	1	20	1	0	0	0	0	1	0	0	0	497	1145	40	1	766	1	ALDH3A1	17	19645383	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	27308	19645383	61549827	1620	19291											
NOS2	4843	broad.mit.edu	37	chr17	26108199	26108199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggggaacacggtgatggCcgaccttcccaggacaggaa	15	11	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:26108199C>T	uc002gzu.2	-	8	991	c.727G>A	c.(727-729)GCC>ACC	p.A243T	NOS2_uc010crh.1_Missense_Mutation_p.A243T|NOS2_uc010wab.1_Missense_Mutation_p.A243T	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	243					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	ACGGTGATGGCCGACCTTCCC	0.617													T	26108199	C	T	26108199	3	4	20	1	0	0	0	0	1	0	0	0	10543	739	26	2	2814	2	NOS2	17	26108199	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	6462816	26108199	55087011	1621	19292											
NOS2	4843	broad.mit.edu	37	chr17	26114723	26114723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctttgaaggagccgtaatAttggttgacaaattcgatag	10	6	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:26114723A>G	uc002gzu.2	-	5	712	c.448T>C	c.(448-450)TAT>CAT	p.Y150H	NOS2_uc010crh.1_Missense_Mutation_p.Y150H|NOS2_uc010wab.1_Missense_Mutation_p.Y150H	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	150					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GAGCCGTAATATTGGTTGACA	0.532													G	26114723	A	G	26114723	3	3	20	1	0	0	0	0	1	0	0	0	10543	449	16	3	3105	3	NOS2	17	26114723	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	6524	26114723	55080487	1622	19293											
KIAA0100	9703	broad.mit.edu	37	chr17	26951336	26951336	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccacacaactggtcactcAtgcctgattcctcttctgtg	7	14	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:26951336A>G	uc002hbu.2	-	25	4766	c.4667T>C	c.(4666-4668)ATG>ACG	p.M1556T	KIAA0100_uc002hbt.2_5'Flank	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1556						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					CTGGTCACTCATGCCTGATTC	0.453													G	26951336	A	G	26951336	3	3	20	1	0	0	0	0	1	0	0	0	8154	217	8	3	2100	3	KIAA0100	17	26951336	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	836613	26951336	54243874	1623	19294											
KIAA0100	9703	broad.mit.edu	37	chr17	26966334	26966334	+	Splice_Site	DEL	T	T	-													tgaaaaagatcagactgaccTttttttcctttgctttagaa							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:26966333_26966333CT>C	uc002hbu.3	-	11	1332	c.1229_splice	c.e11+1	p.R410_splice	KIAA0100_uc002hbv.3_Frame_Shift_Del_p.R410fs	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	410						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCAGACTGACCTTTTTTTCCT	0.433													-	26966334	T	-	26966334	8	5	20	1	0	1	0	1	0	0	1	0	8154	1623	56	0	5595	0	KIAA0100	17	26966334	Splice_Site	DEL	T	TCGA-BR-4362-01A-01D-1158-08	14998	26966334	54228876	1624	19295											
TP53I13	90313	broad.mit.edu	37	chr17	27899538	27899538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcgcagcagcgcctccaCgggcagcccggggccccacc	13	21	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:27899538C>T	uc002hee.2	+	6	930	c.892C>T	c.(892-894)CGG>TGG	p.R298W		NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	298	Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane					0				READ - Rectum adenocarcinoma(3;0.236)		AGCGCCTCCACGGGCAGCCCG	0.711													T	27899538	C	T	27899538	3	4	20	1	0	0	0	0	1	0	0	0	16383	527	19	1	914	1	TP53I13	17	27899538	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	933204	27899538	53295672	1625	19296											
SSH2	85464	broad.mit.edu	37	chr17	27958011	27958011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtccctgggtctgtagcaCgggaaggcctccttcagaac	12	13	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:27958011C>T	uc002heo.1	-	15	4120	c.4120G>A	c.(4120-4122)GTG>ATG	p.V1374M	SSH2_uc010wbh.1_Missense_Mutation_p.V1401M	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	1374					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						GTCTGTAGCACGGGAAGGCCT	0.572													T	27958011	C	T	27958011	3	4	20	1	0	0	0	0	1	0	0	0	15184	536	19	1	155	1	SSH2	17	27958011	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	58473	27958011	53237199	1626	19297											
CPD	1362	broad.mit.edu	37	chr17	28706682	28706683	+	Frame_Shift_Ins	INS	-	-	C													accagtttagcaccggcgaaINSccccccgccctggacgaggt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:28706682_28706683insC	uc002hfb.1	+	1	699_700	c.684_685insC	c.(682-687)GAACCCfs	p.E228fs	CPD_uc010wbo.1_5'Flank|CPD_uc010wbp.1_5'Flank	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	228_229	Extracellular (Potential).|Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						GCACCGGCGAACCCCCCGCCCT	0.703													C	28706683	-	C	28706682	7	5	20	1	0	1	1	0	0	0	0	0	3798	40	2	0	686	0	CPD	17	28706682	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	748671	28706682	52488528	1627	19298											
NF1	4763	broad.mit.edu	37	chr17	29486057	29486057	+	Frame_Shift_Del	DEL	T	T	-													ggagaagctgctgaaaaaaaTttatatctctctcagttgat							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:29486056_29486056AT>A	uc002hgg.3	+	2	616	c.233_233AT>A	c.(232-234)aatfs	p.N78fs	NF1_uc002hge.2_Frame_Shift_Del_p.N78fs|NF1_uc002hgf.2_Frame_Shift_Del_p.N78fs|NF1_uc002hgh.3_Frame_Shift_Del_p.N78fs|NF1_uc010csn.2_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	78					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCTGAAAAAAATTTATATCTC	0.328			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29486057	T	-	29486057	7	5	20	1	0	1	0	1	0	0	0	0	10356	1490	52	0	244	0	NF1	17	29486057	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	779375	29486057	51709153	1628	19299											
EVI2A	2123	broad.mit.edu	37	chr17	29645818	29645818	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcatgtttgtagaattacCtttataatctacttcaggag	8	6	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:29645818C>A	uc002hgm.2	-	2	429	c.214G>T	c.(214-216)GGT>TGT	p.G72C	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2A_uc002hgl.2_Missense_Mutation_p.G95C	NM_014210	NP_055025	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A isoform 2	72	Extracellular (Potential).					integral to membrane	transmembrane receptor activity			ovary(1)|breast(1)	2		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		GTAGAATTACCTTTATAATCT	0.368													A	29645818	C	A	29645818	3	1	20	1	0	0	0	0	1	0	0	0	5287	681	24	5	500	5	EVI2A	17	29645818	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	159761	29645818	51549392	1629	19300											
MYO1D	4642	broad.mit.edu	37	chr17	31075962	31075962	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagatactcacactacatcGcctgcataatgtcgaattcg	6	11	1	1	rs117036818	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:31075962G>A	uc002hho.1	-	12	1542	c.1530C>T	c.(1528-1530)GGC>GGT	p.G510G	MYO1D_uc002hhp.1_Silent_p.G510G	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	510	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACACTACATCGCCTGCATAAT	0.368													A	31075962	G	A	31075962	2	1	20	1	0	0	0	0	0	0	0	1	10071	1074	38	1		1	MYO1D	17	31075962	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1430144	31075962	50119248	1630	19301											
SPACA3	124912	broad.mit.edu	37	chr17	31322545	31322545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggctccacctctgccgcCggcatagaagccaggagcag	14	14	1	1	rs139396445		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:31322545C>T	uc002hhs.1	+	2	228	c.153C>T	c.(151-153)GCC>GCT	p.A51A	SPACA3_uc010cte.1_RNA	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	51	Cytoplasmic (Potential).				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.193)			CCTCTGCCGCCGGCATAGAAG	0.612													T	31322545	C	T	31322545	2	4	20	1	0	0	0	0	0	0	0	1	14973	639	23	1		1	SPACA3	17	31322545	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	246583	31322545	49872665	1631	19302											
SLFN13	146857	broad.mit.edu	37	chr17	33768287	33768287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagtccccatcttcagtaCggaaattctgagcttcgtca	7	13	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:33768287C>T	uc002hjk.1	-	4	2351	c.2021G>A	c.(2020-2022)CGT>CAT	p.R674H	SLFN13_uc010wch.1_Missense_Mutation_p.R674H|SLFN13_uc002hjl.2_Missense_Mutation_p.R674H|SLFN13_uc010ctt.2_Missense_Mutation_p.R356H|SLFN13_uc002hjm.2_Missense_Mutation_p.R343H	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	schlafen family member 13	674						intracellular	ATP binding			ovary(1)|breast(1)	2				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATCTTCAGTACGGAAATTCTG	0.433													T	33768287	C	T	33768287	3	4	20	1	0	0	0	0	1	0	0	0	14736	536	19	1	676	1	SLFN13	17	33768287	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2445742	33768287	47426923	1632	19303											
DDX52	11056	broad.mit.edu	37	chr17	35986851	35986851	+	Frame_Shift_Del	DEL	G	G	-													taccttgctaggtcgattccGgggggatcttgctttaataa							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:35986850_35986850CG>C	uc002hoi.2	-	6	960	c.916_916CG>G	c.(916-918)ggafs	p.G306fs	DDX52_uc002hoh.2_Frame_Shift_Del_p.G198fs	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 (DDX52), mRNA.	306	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				AGGTCGATTCCGGGGGGATCT	0.303													-	35986851	G	-	35986851	7	5	20	1	0	1	0	1	0	0	0	0	4370	1103	39	0	920	0	DDX52	17	35986851	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	2218564	35986851	45208359	1633	19304											
HNF1B	6928	broad.mit.edu	37	chr17	36091778	36091778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaagttggagcccaggcCgtgggctttggagggggaca	18	9	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:36091778C>T	uc002hok.3	-	4	1074	c.853G>A	c.(853-855)GGC>AGC	p.G285S	HNF1B_uc010wdi.1_Missense_Mutation_p.G259S|HNF1B_uc010cve.1_Missense_Mutation_p.G93S	NM_000458	NP_000449	P35680	HNF1B_HUMAN	hepatocyte nuclear factor 1-beta isoform 1	285	Homeobox; HNF1-type.		G -> D (in RCAD).		endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GAGCCCAGGCCGTGGGCTTTG	0.612									Hereditary_Prostate_Cancer				T	36091778	C	T	36091778	3	4	20	1	0	0	0	0	1	0	0	0	7252	652	23	1	844	1	HNF1B	17	36091778	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	104927	36091778	45103432	1634	19305											
PNMT	5409	broad.mit.edu	37	chr17	37826335	37826335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgacgccctggtctctgCcttctgcttggaggctgtga	13	12	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:37826335C>T	uc002hsi.1	+	3	764	c.542C>T	c.(541-543)GCC>GTC	p.A181V		NM_002686	NP_002677	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	181		S-adenosyl-L-methionine; via carbonyl oxygen.			catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			ovary(1)	1	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGGTCTCTGCCTTCTGCTTG	0.677													T	37826335	C	T	37826335	3	4	20	1	0	0	0	0	1	0	0	0	12159	739	26	2	552	2	PNMT	17	37826335	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1734557	37826335	43368875	1635	19306											
GRB7	2886	broad.mit.edu	37	chr17	37900873	37900873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacgtggtgacgcagggccGcaagctctacgggatgccca	15	12	1	1	rs138362707		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:37900873G>A	uc002hsr.2	+	8	1119	c.869G>A	c.(868-870)CGC>CAC	p.R290H	GRB7_uc002hss.2_Missense_Mutation_p.R290H|GRB7_uc010cwc.2_Missense_Mutation_p.R290H|GRB7_uc002hst.2_Missense_Mutation_p.R290H	NM_005310	NP_005301	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	290	PH.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ACGCAGGGCCGCAAGCTCTAC	0.607													A	37900873	G	A	37900873	3	1	20	1	0	0	0	0	1	0	0	0	6759	1087	38	1	895	1	GRB7	17	37900873	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	74538	37900873	43294337	1636	19307											
TNS4	84951	broad.mit.edu	37	chr17	38633914	38633914	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctggctggaccatgtcatActccgcaaagaggtggcata	13	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:38633914A>G	uc010cxb.2	-	13	2238	c.2074T>C	c.(2074-2076)TAT>CAT	p.Y692H	TNS4_uc002huu.3_Missense_Mutation_p.Y105H	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	692	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACCATGTCATACTCCGCAAAG	0.597													G	38633914	A	G	38633914	3	3	20	1	0	0	0	0	1	0	0	0	16342	391	14	3	77	3	TNS4	17	38633914	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	733041	38633914	42561296	1637	19308											
KRT26	353288	broad.mit.edu	37	chr17	38928171	38928171	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaccagcacaggcaccActtcccaaccctccaccgct	5	19	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:38928171A>G	uc002hvf.2	-	1	241	c.195T>C	c.(193-195)AGT>AGC	p.S65S		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	keratin 26	65	Head.|Gly-rich.					intermediate filament	structural molecule activity				0		Breast(137;0.00526)				CACAGGCACCACTTCCCAACC	0.527													G	38928171	A	G	38928171	2	3	20	1	0	0	0	0	0	0	0	1	8463	156	6	3		3	KRT26	17	38928171	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	294257	38928171	42267039	1638	19309											
KRT10	3858	broad.mit.edu	37	chr17	38975866	38975866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtattcagtattctggcactCggtttcagctcgaatctgtt	9	9	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:38975866C>T	uc002hvi.2	-	6	1302	c.1276G>A	c.(1276-1278)GAG>AAG	p.E426K	KRT10_uc010cxd.2_RNA|TMEM99_uc002hvj.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	keratin 10	426	Rod.|Gly-rich.|Coil 2.				epidermis development		protein binding|structural constituent of epidermis				0		Breast(137;0.000301)				TTCTGGCACTCGGTTTCAGCT	0.483													T	38975866	C	T	38975866	3	4	20	1	0	0	0	0	1	0	0	0	8448	893	31	1	490	1	KRT10	17	38975866	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	47695	38975866	42219344	1639	19310											
KLHL10	317719	broad.mit.edu	37	chr17	40001941	40001941	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	accaatcaatggacactcatCgcccccatgcacgaacagag	7	15	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:40001941C>A	uc010cxr.2	+	3	1390	c.1248C>A	c.(1246-1248)ATC>ATA	p.I416I	KLHL10_uc010wfv.1_Silent_p.I410I|KLHL10_uc010wfw.1_Silent_p.I328I	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	416	Kelch 3.					cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)				GGACACTCATCGCCCCCATGC	0.498													A	40001941	C	A	40001941	2	1	20	1	0	0	0	0	0	0	0	1	8366	874	31	5		5	KLHL10	17	40001941	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1026075	40001941	41193269	1640	19311											
KCNH4	23415	broad.mit.edu	37	chr17	40330908	40330908	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcactggtctctgggccGtagaggaaacggcagctgca	15	11	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:40330908G>A	uc002hzb.2	-	2	546	c.213C>T	c.(211-213)TAC>TAT	p.Y71Y		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	71	Cytoplasmic (Potential).|PAS.				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCTCTGGGCCGTAGAGGAAAC	0.627													A	40330908	G	A	40330908	2	1	20	1	0	0	0	0	0	0	0	1	8034	1140	40	1		1	KCNH4	17	40330908	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	328967	40330908	40864302	1641	19312											
COASY	80347	broad.mit.edu	37	chr17	40717259	40717259	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccagaagcagctgaagatActcacggacattatgtggcc	10	12	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:40717259A>G	uc002hzz.2	+	7	1474	c.1317A>G	c.(1315-1317)ATA>ATG	p.I439M	COASY_uc010cyj.2_Missense_Mutation_p.I468M|COASY_uc002iab.2_Missense_Mutation_p.I144M|COASY_uc002iad.2_Missense_Mutation_p.I439M|COASY_uc002iac.2_Missense_Mutation_p.I439M|COASY_uc002iae.2_Missense_Mutation_p.I234M|MLX_uc002iaf.2_5'Flank|MLX_uc002iag.2_5'Flank|MLX_uc002iah.2_5'Flank	NM_001042529	NP_001035994	Q13057	COASY_HUMAN	coenzyme A synthase isoform a	439	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity				0		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		AGCTGAAGATACTCACGGACA	0.562													G	40717259	A	G	40717259	3	3	20	1	0	0	0	0	1	0	0	0	3652	381	14	3	1430	3	COASY	17	40717259	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	386351	40717259	40477951	1642	19313											
RUNDC1	146923	broad.mit.edu	37	chr17	41143362	41143362	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acggccgtgcttatgtggaaTccccagcccggaagctctcc	11	15	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:41143362T>C	uc002ici.1	+	5	1483	c.1471T>C	c.(1471-1473)TCC>CCC	p.S491P	RUNDC1_uc010whi.1_Missense_Mutation_p.S261P	NM_173079	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	491	RUN.										0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TTATGTGGAATCCCCAGCCCG	0.577													C	41143362	T	C	41143362	3	2	20	1	0	0	0	0	1	0	0	0	13742	1435	50	3	1489	3	RUNDC1	17	41143362	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	426103	41143362	40051848	1643	19314											
BRCA1	672	broad.mit.edu	37	chr17	41244853	41244853	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgttcacattcaaaagtgaCttttggactttgtttcttta	6	6	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:41244853C>G	uc002icq.2	-	10	2927	c.2695G>C	c.(2695-2697)GTC>CTC	p.V899L	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.V828L|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.V852L|BRCA1_uc002ict.2_Missense_Mutation_p.V899L|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.V899L|BRCA1_uc002ide.1_Missense_Mutation_p.V730L|BRCA1_uc010cyy.1_Missense_Mutation_p.V899L|BRCA1_uc010whs.1_Missense_Mutation_p.V899L|BRCA1_uc010cyz.2_Missense_Mutation_p.V852L|BRCA1_uc010cza.2_Missense_Mutation_p.V873L|BRCA1_uc010wht.1_Missense_Mutation_p.V603L	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	899					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCAAAAGTGACTTTTGGACTT	0.413			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			G	41244853	C	G	41244853	3	3	20	1	0	0	0	0	1	0	0	0	1498	565	20	5	3022	5	BRCA1	17	41244853	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	101491	41244853	39950357	1644	19315											
BRCA1	672	broad.mit.edu	37	chr17	41246532	41246532	+	Frame_Shift_Del	DEL	T	T	-													gatcagcattcagatctaccTttttttctgtgctgggagtc					rs80357911		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:41246531_41246531CT>C	uc002icq.3	-	9	1249	c.1017_1017AG>G	c.(1015-1017)aagfs	p.K339fs	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Frame_Shift_Del_p.K268fs|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Frame_Shift_Del_p.K292fs|BRCA1_uc002ict.3_Frame_Shift_Del_p.K339fs|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Frame_Shift_Del_p.K339fs|BRCA1_uc002ide.1_Frame_Shift_Del_p.K170fs|BRCA1_uc010cyy.1_Frame_Shift_Del_p.K339fs|BRCA1_uc010whs.1_Frame_Shift_Del_p.K339fs|BRCA1_uc010cyz.2_Frame_Shift_Del_p.K292fs|BRCA1_uc010cza.2_Frame_Shift_Del_p.K313fs|BRCA1_uc010wht.1_Frame_Shift_Del_p.K43fs	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	339					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCAGATCTACCTTTTTTTCTG	0.438			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			-	41246532	T	-	41246532	7	5	20	1	0	1	0	1	0	0	0	0	1498	1609	56	0	4701	0	BRCA1	17	41246532	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	1679	41246532	39948678	1645	19316											
NBR1	4077	broad.mit.edu	37	chr17	41343459	41343459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgagctgagaagaaacaaCgtaaagcagaggtcaaggaa	13	6	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:41343459C>T	uc010czd.2	+	10	1074	c.934C>T	c.(934-936)CGT>TGT	p.R312C	NBR1_uc010diz.2_Missense_Mutation_p.R312C|NBR1_uc010whu.1_Missense_Mutation_p.R312C|NBR1_uc010whv.1_Missense_Mutation_p.R312C|NBR1_uc010whw.1_Missense_Mutation_p.R291C|NBR1_uc010whx.1_Missense_Mutation_p.R121C	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	312					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GAAGAAACAACGTAAAGCAGA	0.403													T	41343459	C	T	41343459	3	4	20	1	0	0	0	0	1	0	0	0	10200	536	19	1	968	1	NBR1	17	41343459	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	96927	41343459	39851751	1646	19317											
MPP2	4355	broad.mit.edu	37	chr17	41958098	41958098	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgatctggatcccacatgaTgagcttgttcttcaggctgc	11	11	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:41958098T>C	uc010wip.1	-	10	1303	c.1246A>G	c.(1246-1248)ATC>GTC	p.I416V	MPP2_uc002ien.1_Missense_Mutation_p.I388V|MPP2_uc010wim.1_Missense_Mutation_p.I360V|MPP2_uc002ieo.1_Missense_Mutation_p.I371V|MPP2_uc010win.1_Missense_Mutation_p.I232V|MPP2_uc010wio.1_Missense_Mutation_p.I360V	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	395	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TCCCACATGATGAGCTTGTTC	0.642											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	41958098	T	C	41958098	3	2	20	1	0	0	0	0	1	0	0	0	9734	1464	51	3	563	3	MPP2	17	41958098	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	614639	41958098	39237112	1647	19318											
TMUB2	79089	broad.mit.edu	37	chr17	42266704	42266704	+	Frame_Shift_Del	DEL	G	G	-													tgaagaggcgggtgaaggtcGgggagactccactggggagg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:42266703_42266703CG>C	uc002ifo.3	+	2	506	c.349_349CG>C	c.(349-351)cggfs	p.R117fs	C17orf65_uc002ifn.3_5'Flank|TMUB2_uc002ifp.3_Frame_Shift_Del_p.R97fs|TMUB2_uc010wiu.2_Intron|TMUB2_uc002ifr.3_Intron|TMUB2_uc002ift.3_Frame_Shift_Del_p.R97fs|TMUB2_uc002ifx.3_Intron|TMUB2_uc002ify.3_Intron	NM_001076674	NP_803190	Q71RG4	TMUB2_HUMAN	Homo sapiens transmembrane and ubiquitin-like domain containing 2 (TMUB2), transcript variant 3, mRNA.	117						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGGTGAAGGTCGGGGAGACTC	0.607													-	42266704	G	-	42266704	7	5	20	1	0	1	0	1	0	0	0	0	16262	1116	39	0	356	0	TMUB2	17	42266704	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	308606	42266704	38928506	1648	19319											
DBF4B	80174	broad.mit.edu	37	chr17	42824781	42824781	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttcagagtgcccagcaccGgagctttgccctggaagccc	11	15	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:42824781G>T	uc002ihf.2	+	12	1175	c.962G>T	c.(961-963)CGG>CTG	p.R321L	DBF4B_uc002ihe.2_Missense_Mutation_p.R135L|DBF4B_uc010wjc.1_Missense_Mutation_p.R305L	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B isoform 1	321	DBF4-type.				cell cycle	nucleus	nucleic acid binding|zinc ion binding				0		Prostate(33;0.0322)				GCCCAGCACCGGAGCTTTGCC	0.622													T	42824781	G	T	42824781	3	4	20	1	0	0	0	0	1	0	0	0	4249	1116	39	5	1053	5	DBF4B	17	42824781	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	558077	42824781	38370429	1649	19320											
KIAA1267	284058	broad.mit.edu	37	chr17	44115975	44115975	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggaggtggagagctgtcGcaccaagggactgtgtggag	19	6	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:44115975G>A	uc002ikb.2	-	9	2555	c.2470C>T	c.(2470-2472)CGA>TGA	p.R824*	KIAA1267_uc002ikc.2_Nonsense_Mutation_p.R824*|KIAA1267_uc002ikd.2_Nonsense_Mutation_p.R824*|KIAA1267_uc010dav.2_Nonsense_Mutation_p.R824*|KIAA1267_uc010wkb.1_Nonsense_Mutation_p.R155*|KIAA1267_uc010wkc.1_Nonsense_Mutation_p.R92*	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	824						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				GAGAGCTGTCGCACCAAGGGA	0.562													A	44115975	G	A	44115975	4	1	20	1	0	0	0	0	0	1	0	0	8219	1095	38	1	871	1	KIAA1267	17	44115975	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1291194	44115975	37079235	1650	19321											
ITGB3	3690	broad.mit.edu	37	chr17	45367089	45367089	+	Frame_Shift_Del	DEL	A	A	-													tgactgagaagctatcccagAaaaacatcaatttgatcttt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:45367088_45367088GA>G	uc002ilj.3	+	6	1001	c.981_981GA>G	c.(979-981)cagfs	p.Q327fs	ITGB3_uc002ili.1_Frame_Shift_Del_p.Q327fs|ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	327	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	AGCTATCCCAGAAAAACATCA	0.453													-	45367089	A	-	45367089	7	5	20	1	0	1	0	1	0	0	0	0	7895	247	9	0	1008	0	ITGB3	17	45367089	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	1251114	45367089	35828121	1651	19322											
C17orf57	124989	broad.mit.edu	37	chr17	45473245	45473245	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgacgatctcagaaaggagaCgatgagtgtttctgacctgt	12	8	2	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:45473245C>G	uc002iln.2	+	17	2258	c.1847C>G	c.(1846-1848)ACG>AGG	p.T616R	C17orf57_uc002ilm.2_Missense_Mutation_p.T520R	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	hypothetical protein LOC124989	616							calcium ion binding			breast(1)|central_nervous_system(1)|skin(1)	3						AGAAAGGAGACGATGAGTGTT	0.368													G	45473245	C	G	45473245	3	3	20	1	0	0	0	0	1	0	0	0	1865	536	19	5	1901	5	C17orf57	17	45473245	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	106156	45473245	35721965	1652	19323											
NFE2L1	4779	broad.mit.edu	37	chr17	46136704	46136704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgcagaactgccgcaagCgcaagctggacaccatcctg	12	15	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:46136704C>T	uc002imz.3	+	6	2671	c.2020C>T	c.(2020-2022)CGC>TGC	p.R674C	NFE2L1_uc002ina.3_Missense_Mutation_p.R644C|NFE2L1_uc002inb.3_Missense_Mutation_p.R644C|NFE2L1_uc010wle.1_Missense_Mutation_p.R486C|NFE2L1_uc010wlf.1_Missense_Mutation_p.R518C	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	674	Basic motif.				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			skin(1)	1						CTGCCGCAAGCGCAAGCTGGA	0.607													T	46136704	C	T	46136704	3	4	20	1	0	0	0	0	1	0	0	0	10367	768	27	1	2038	1	NFE2L1	17	46136704	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	663459	46136704	35058506	1653	19324											
CHAD	1101	broad.mit.edu	37	chr17	48542692	48542693	+	Frame_Shift_Ins	INS	-	-	G													ctttcttggacctcttggtgINSgggaacttgcagctgcggaa					rs138527449	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:48542691_48542692T>TG	uc010dbr.3	-	2	1100_1101	c.1047_1048A>CA	c.(1045-1050)cccaccfs	p.P349fs	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.3_Frame_Shift_Ins_p.P349fs|ACSF2_uc010dbt.1_5'Flank	NM_001267	NP_001258	O15335	CHAD_HUMAN	Homo sapiens chondroadherin (CHAD), mRNA.	349					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GACCTCTTGGTGGGGAACTTGC	0.589													G	48542693	-	G	48542692	7	5	20	1	0	1	1	0	0	0	0	0	3310	1335	47	0	36	0	CHAD	17	48542692	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	2405988	48542692	32652518	1654	19325											
CACNA1G	8913	broad.mit.edu	37	chr17	48649364	48649364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctgtgggcagggctgcttCggaaccgatgcttcctacct	13	12	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:48649364C>T	uc002irk.1	+	5	1084	c.712C>T	c.(712-714)CGG>TGG	p.R238W	CACNA1G_uc002iri.1_Missense_Mutation_p.R238W|CACNA1G_uc002irj.1_Missense_Mutation_p.R238W|CACNA1G_uc002irl.1_Missense_Mutation_p.R238W|CACNA1G_uc002irm.1_Missense_Mutation_p.R238W|CACNA1G_uc002irn.1_Missense_Mutation_p.R238W|CACNA1G_uc002iro.1_Missense_Mutation_p.R238W|CACNA1G_uc002irp.1_Missense_Mutation_p.R238W|CACNA1G_uc002irq.1_Missense_Mutation_p.R238W|CACNA1G_uc002irr.1_Missense_Mutation_p.R238W|CACNA1G_uc002irs.1_Missense_Mutation_p.R238W|CACNA1G_uc002irt.1_Missense_Mutation_p.R238W|CACNA1G_uc002irv.1_Missense_Mutation_p.R238W|CACNA1G_uc002irw.1_Missense_Mutation_p.R238W|CACNA1G_uc002iru.1_Missense_Mutation_p.R238W|CACNA1G_uc002irx.1_Missense_Mutation_p.R151W|CACNA1G_uc002iry.1_Missense_Mutation_p.R151W|CACNA1G_uc002irz.1_Missense_Mutation_p.R151W|CACNA1G_uc002isa.1_Missense_Mutation_p.R151W|CACNA1G_uc002isb.1_Missense_Mutation_p.R151W|CACNA1G_uc002isc.1_Missense_Mutation_p.R151W|CACNA1G_uc002isd.1_Missense_Mutation_p.R151W|CACNA1G_uc002ise.1_Missense_Mutation_p.R151W|CACNA1G_uc002isf.1_Missense_Mutation_p.R151W|CACNA1G_uc002isg.1_Missense_Mutation_p.R151W|CACNA1G_uc002ish.1_Missense_Mutation_p.R151W|CACNA1G_uc002isi.1_Missense_Mutation_p.R151W	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	238	Extracellular (Potential).|I.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGGCTGCTTCGGAACCGATG	0.607													T	48649364	C	T	48649364	3	4	20	1	0	0	0	0	1	0	0	0	2544	875	31	1	730	1	CACNA1G	17	48649364	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	106672	48649364	32545846	1655	19326											
ABCC3	8714	broad.mit.edu	37	chr17	48744971	48744971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgagtgagatcctgaaCggcatcaaggtgctgaagct	13	8	1	5			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:48744971C>T	uc002isl.2	+	12	1568	c.1488C>T	c.(1486-1488)AAC>AAT	p.N496N	ABCC3_uc002isk.3_Silent_p.N496N	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	496	ABC transmembrane type-1 1.|Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AGATCCTGAACGGCATCAAGG	0.587													T	48744971	C	T	48744971	2	4	20	1	0	0	0	0	0	0	0	1	54	535	19	1		1	ABCC3	17	48744971	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	95607	48744971	32450239	1656	19327											
ABCC3	8714	broad.mit.edu	37	chr17	48746874	48746875	+	Frame_Shift_Del	DEL	AG	AG	-													ctgcctggtggggatcagacAgagattggagagaaggtaca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:48746873_48746874CAG>C	uc002isl.3	+	16	2305_2306	c.2225_2226CAG>C	c.(2224-2226)acafs	p.T742fs		NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	742	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GGGGATCAGACAGAGATTGGAG	0.564													-	48746875	AG	-	48746874	7	5	20	1	0	1	0	1	0	0	0	0	54	175	7	0	2376	0	ABCC3	17	48746874	Frame_Shift_Del	DEL	AG	TCGA-BR-4362-01A-01D-1158-08	1903	48746874	32448336	1657	19328											
SPAG9	9043	broad.mit.edu	37	chr17	49098616	49098616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaccttcacaaatccttcGttttcttcctttaagggagt	6	10	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:49098616G>A	uc002itc.2	-	7	1103	c.894C>T	c.(892-894)AAC>AAT	p.N298N	SPAG9_uc002itb.2_Silent_p.N284N|SPAG9_uc002itd.2_Silent_p.N284N|SPAG9_uc002itf.2_Silent_p.N119N|SPAG9_uc002ita.2_Silent_p.N141N|SPAG9_uc002ite.2_Silent_p.N128N	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	298					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CAAATCCTTCGTTTTCTTCCT	0.418													A	49098616	G	A	49098616	2	1	20	1	0	0	0	0	0	0	0	1	14985	1136	40	1		1	SPAG9	17	49098616	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	351742	49098616	32096594	1658	19329											
ANKFN1	162282	broad.mit.edu	37	chr17	54554883	54554883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacaaaaggagtcatcagcGtctctttcctggattatatc	7	10	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:54554883G>A	uc002iun.1	+	15	1852	c.1817G>A	c.(1816-1818)CGT>CAT	p.R606H		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	606										large_intestine(1)|ovary(1)	2						AGTCATCAGCGTCTCTTTCCT	0.363													A	54554883	G	A	54554883	3	1	20	1	0	0	0	0	1	0	0	0	625	1145	40	1	1875	1	ANKFN1	17	54554883	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	5456267	54554883	26640327	1659	19330											
COIL	8161	broad.mit.edu	37	chr17	55027965	55027965	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggagaactacatctctgaTtggcccagtctttcactgcc	8	12	3	2	rs143886618	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:55027965T>C	uc002iuu.2	-	2	669	c.638A>G	c.(637-639)AAT>AGT	p.N213S		NM_004645	NP_004636	P38432	COIL_HUMAN	coilin	213						Cajal body|nucleolus	protein C-terminus binding			ovary(1)	1	Breast(9;6.15e-08)					ACATCTCTGATTGGCCCAGTC	0.408													C	55027965	T	C	55027965	3	2	20	1	0	0	0	0	1	0	0	0	3665	1493	52	3	1116	3	COIL	17	55027965	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	473082	55027965	26167245	1660	19331											
LPO	4025	broad.mit.edu	37	chr17	56324946	56324946	+	Frame_Shift_Del	DEL	G	G	-													catccgcaatggacaggtgtGggaggagtctttaaagagac							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:56324945_56324945TG>T	uc002ivt.3	+	3	587	c.271_271TG>T	c.(271-273)tggfs	p.W91fs	LPO_uc010dco.2_Frame_Shift_Del_p.W91fs|LPO_uc010wnr.1_Intron|LPO_uc010wns.2_Frame_Shift_Del_p.W32fs|LPO_uc010dcp.3_Intron|LPO_uc010dcq.3_5'Flank	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	91					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.W91C(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGGACAGGTGTGGGAGGAGTC	0.572													-	56324946	G	-	56324946	7	5	20	1	0	1	0	1	0	0	0	0	8922	1357	47	0	282	0	LPO	17	56324946	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	1296981	56324946	24870264	1661	19332											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	20	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	110215	56435161	24760049	1662	19333											
RNF43	54894	broad.mit.edu	37	chr17	56448298	56448298	+	Frame_Shift_Del	DEL	G	G	-													agccagtgacaggcaggggcGgggggcccgtcgaggactct					rs2257205	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:56448297_56448297CG>C	uc002iwf.3	-	1	2306	c.350_350CG>G	c.(349-351)cgcfs	p.R117fs	RNF43_uc010wnv.2_Intron|RNF43_uc002iwh.4_Frame_Shift_Del_p.R117fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.R117fs|RNF43_uc010dcw.3_5'UTR	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	117			R -> H (in dbSNP:rs2257205).			endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGGCAGGGGCGGGGGGCCCG	0.602													-	56448298	G	-	56448298	7	5	20	1	0	1	0	1	0	0	0	0	13495	1116	39	0	2034	0	RNF43	17	56448298	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	13137	56448298	24746912	1663	19334											
SEPT4	5414	broad.mit.edu	37	chr17	56599207	56599207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgaattcaacatccaatgGccggagcctggggaacagga	12	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:56599207G>A	uc002iwm.1	-	7	933	c.805C>T	c.(805-807)CCA>TCA	p.P269S	SEPT4_uc002iwk.1_Missense_Mutation_p.P122S|SEPT4_uc010wnw.1_Missense_Mutation_p.P122S|SEPT4_uc002iwl.1_Missense_Mutation_p.P122S|SEPT4_uc002iwn.1_Missense_Mutation_p.P170S|SEPT4_uc002iwo.1_Missense_Mutation_p.P250S|SEPT4_uc002iwp.1_3'UTR|SEPT4_uc010wnx.1_Missense_Mutation_p.P284S|SEPT4_uc010wny.1_Missense_Mutation_p.P261S|SEPT4_uc010dcy.1_3'UTR	NM_004574	NP_004565	O43236	SEPT4_HUMAN	septin 4 isoform 1	269					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACATCCAATGGCCGGAGCCTG	0.597													A	56599207	G	A	56599207	3	1	20	1	0	0	0	0	1	0	0	0	14066	1203	42	2	655	2	SEPT4	17	56599207	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	150909	56599207	24596003	1664	19335											
TEX14	56155	broad.mit.edu	37	chr17	56690811	56690811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggacactgaacaatgtgcCgatagtgatgcgctcgtaca	11	9	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:56690811C>T	uc010dcz.1	-	9	1112	c.994G>A	c.(994-996)GGC>AGC	p.G332S	TEX14_uc002iwr.1_Missense_Mutation_p.G326S|TEX14_uc002iws.1_Missense_Mutation_p.G326S|TEX14_uc010dda.1_Missense_Mutation_p.G106S	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	332	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AACAATGTGCCGATAGTGATG	0.527													T	56690811	C	T	56690811	3	4	20	1	0	0	0	0	1	0	0	0	15775	652	23	1	3599	1	TEX14	17	56690811	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	91604	56690811	24504399	1665	19336											
PPM1E	22843	broad.mit.edu	37	chr17	57057506	57057506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagagaataatggagacaGcagcatggttgcccacaaat	11	7	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:57057506G>A	uc002iwx.2	+	7	1509	c.1382G>A	c.(1381-1383)AGC>AAC	p.S461N	PPM1E_uc010ddd.2_Missense_Mutation_p.S224N	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	470	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			AATGGAGACAGCAGCATGGTT	0.483													A	57057506	G	A	57057506	3	1	20	1	0	0	0	0	1	0	0	0	12338	971	34	2	1408	2	PPM1E	17	57057506	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	366695	57057506	24137704	1666	19337											
C17orf71	55181	broad.mit.edu	37	chr17	57289173	57289173	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactcattacctaaatcaggTagctaaaatttgttcagcat	5	9	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:57289173T>C	uc002ixi.2	+	1	1801	c.1759_splice	c.e1+2	p.G587_splice		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein						nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CTAAATCAGGTAGCTAAAATT	0.338													C	57289173	T	C	57289173	5	2	20	1	0	0	0	0	0	0	1	0	1878	1652	57	3	1763	3	C17orf71	17	57289173	Splice_Site	SNP	T	TCGA-BR-4362-01A-01D-1158-08	231667	57289173	23906037	1667	19338											
DHX40	79665	broad.mit.edu	37	chr17	57679906	57679906	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgatttcccaaaagagacCtttgaaggccctaaacatga	8	9	0	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:57679906C>A	uc002ixn.1	+	15	1977	c.1830C>A	c.(1828-1830)ACC>ACA	p.T610T	DHX40_uc010woe.1_Silent_p.T533T|DHX40_uc010wof.1_Silent_p.T125T	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	610							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CAAAAGAGACCTTTGAAGGCC	0.338													A	57679906	C	A	57679906	2	1	20	1	0	0	0	0	0	0	0	1	4512	668	24	5		5	DHX40	17	57679906	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	390733	57679906	23515304	1668	19339											
RPS6KB1	6198	broad.mit.edu	37	chr17	58024090	58024091	+	Frame_Shift_Ins	INS	-	-	A													gccgaactctgggccatacaINSaaaaacaagcttttcccatg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:58024089_58024090C>CA	uc002ixy.3	+	14	1621_1622	c.1518_1519C>CA	c.(1516-1521)tacaaafs	p.Y506fs	RPS6KB1_uc010ddj.2_Intron|RPS6KB1_uc010wom.2_Frame_Shift_Ins_p.Y453fs|RPS6KB1_uc010won.2_Frame_Shift_Ins_p.Y483fs|RPS6KB1_uc010woo.2_Frame_Shift_Ins_p.Y441fs	NM_003161	NP_003152	P23443	KS6B1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 70kDa, polypeptide 1 (RPS6KB1), mRNA.	506	Autoinhibitory domain.				G1/S transition of mitotic cell cycle|TOR signaling cascade|apoptosis|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity	p.Q509fs*>18(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			CTGGGCCATACAAAAAACAAGC	0.45													A	58024091	-	A	58024090	7	5	20	1	0	1	1	0	0	0	0	0	13656	131	5	0	1577	0	RPS6KB1	17	58024090	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	344184	58024090	23171120	1669	19340											
CA4	762	broad.mit.edu	37	chr17	58234015	58234017	+	In_Frame_Del	DEL	CTT	CTT	-													gtggacaaaaaactgggacgCttcttcttctctggctacga					rs121434552		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:58234014_58234016GCTT>G	uc002iym.4	+	2	300_302	c.206_208GCTT>G	c.(205-210)cgcttc>cGtc	p.F72del	CA4_uc010wou.2_Non-coding_Transcript	NM_000717	NP_000708	P22748	CAH4_HUMAN	Homo sapiens carbonic anhydrase IV (CA4), mRNA.	72					bicarbonate transport|one-carbon metabolic process	ER-Golgi intermediate compartment|anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	AAACTGGGACGCTTCTTCTTCTC	0.571													-	58234017	CTT	-	58234015	7	5	20	1	0	1	0	1	0	0	0	0	2518	784	28	0	217	0	CA4	17	58234015	In_Frame_Del	DEL	CTT	TCGA-BR-4362-01A-01D-1158-08	209925	58234015	22961195	1670	19341											
MARCH10	162333	broad.mit.edu	37	chr17	60814349	60814349	+	Frame_Shift_Del	DEL	C	C	-													acattcttcagactgggtttCctcttcagtgtcatcgcttt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:60814348_60814348TC>T	uc010dds.3	-	6	1280	c.995_995GA>A	c.(994-996)gaafs	p.E332fs	MARCH10_uc010ddr.3_Frame_Shift_Del_p.E294fs|MARCH10_uc002jag.4_Frame_Shift_Del_p.E294fs|MARCH10_uc002jah.2_Frame_Shift_Del_p.E293fs|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	294							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						AGACTGGGTTTCCTCTTCAGT	0.483													-	60814349	C	-	60814349	7	5	20	1	0	1	0	1	0	0	0	0	9299	864	30	0	1570	0	MARCH10	17	60814349	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	2580334	60814349	20380861	1671	19342											
STRADA	92335	broad.mit.edu	37	chr17	61780974	61780974	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctcagaactcccaatcGtccacctccagctcttccag	7	17	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:61780974G>A	uc002jbm.2	-	13	1440	c.1281C>T	c.(1279-1281)GAC>GAT	p.D427D	LIMD2_uc002jbl.3_5'Flank|STRADA_uc002jbn.2_Silent_p.D369D|STRADA_uc002jbo.2_Silent_p.D390D|STRADA_uc002jbp.2_3'UTR|STRADA_uc002jbq.2_Silent_p.D369D|STRADA_uc010wpq.1_3'UTR|STRADA_uc010wpr.1_3'UTR|STRADA_uc010ddw.2_Silent_p.D398D|STRADA_uc002jbr.2_3'UTR	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	427					activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			ovary(1)	1						ACTCCCAATCGTCCACCTCCA	0.592													A	61780974	G	A	61780974	2	1	20	1	0	0	0	0	0	0	0	1	15323	1136	40	1		1	STRADA	17	61780974	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	966625	61780974	19414236	1672	19343											
FTSJ3	117246	broad.mit.edu	37	chr17	61897648	61897650	+	In_Frame_Del	DEL	CTT	CTT	-													ctagccttagcctcagccacCttcttgatgggacgtgcatt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:61897647_61897649CCTT>C	uc002jbz.3	-	17	2300_2302	c.2222_2224AAGG>G	c.(2221-2226)aaggtg>aGtg	p.741_742KV>S	FTSJ3_uc002jca.3_In_Frame_Del_p.741_742KV>S	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	741					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	p.K741E(1)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCCTCAGCCACCTTCTTGATGGG	0.562													-	61897650	CTT	-	61897648	7	5	20	1	0	1	0	1	0	0	0	0	6089	680	24	0	332	0	FTSJ3	17	61897648	In_Frame_Del	DEL	CTT	TCGA-BR-4362-01A-01D-1158-08	116674	61897648	19297562	1673	19344											
SCN4A	6329	broad.mit.edu	37	chr17	62049563	62049563	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagttggtcaagatggtgaTcatgatgaacatgctgaaca	12	6	2	5			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:62049563T>C	uc002jds.1	-	3	492	c.415A>G	c.(415-417)ATC>GTC	p.I139V		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	139	Helical; Name=S1 of repeat I; (Potential).|I.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	AAGATGGTGATCATGATGAAC	0.567													C	62049563	T	C	62049563	3	2	20	1	0	0	0	0	1	0	0	0	13920	1435	50	3	5183	3	SCN4A	17	62049563	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	151915	62049563	19145647	1674	19345											
SMURF2	64750	broad.mit.edu	37	chr17	62587239	62587239	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtatcattgtcatttggCccgagtttgcataaatccaa	7	9	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:62587239C>T	uc002jep.1	-	5	751	c.363G>A	c.(361-363)GGG>GGA	p.G121G	SMURF2_uc002jeq.1_5'UTR|SMURF2_uc002jer.1_5'UTR	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	121					BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			skin(3)|lung(1)	4	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TGTCATTTGGCCCGAGTTTGC	0.348													T	62587239	C	T	62587239	2	4	20	1	0	0	0	0	0	0	0	1	14820	726	26	2		2	SMURF2	17	62587239	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	537676	62587239	18607971	1675	19346											
BPTF	2186	broad.mit.edu	37	chr17	65850791	65850791	+	Frame_Shift_Del	DEL	A	A	-													tgactgtgttgctgaaatccAaaaaaataaaccatatattc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:65850790_65850790CA>C	uc002jgf.3	+	1	1409	c.1348_1348CA>C	c.(1348-1350)caafs	p.Q450fs	BPTF_uc002jge.3_Frame_Shift_Del_p.Q450fs|BPTF_uc010wqm.1_Frame_Shift_Del_p.Q450fs	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	450					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGCTGAAATCCAAAAAAATAA	0.433													-	65850791	A	-	65850791	7	5	20	1	0	1	0	1	0	0	0	0	1495	130	5	0	1355	0	BPTF	17	65850791	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	3263552	65850791	15344419	1676	19347											
ABCA6	23460	broad.mit.edu	37	chr17	67125767	67125767	+	Frame_Shift_Del	DEL	A	A	-													ttaccaaagataagccatatAaaaaaaagagtataaatatg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:67125766_67125766TA>T	uc002jhw.1	-	6	1093	c.918_918TA>A	c.(916-918)ttafs	p.L306fs		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	306					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATAAGCCATATAAAAAAAAGA	0.303													-	67125767	A	-	67125767	7	5	20	1	0	1	0	1	0	0	0	0	36	372	13	0	4068	0	ABCA6	17	67125767	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	1274976	67125767	14069443	1677	19348											
CD300LB	124599	broad.mit.edu	37	chr17	72521917	72521917	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatcactttcacttgagtccCaaggtcaggtcctcttcttt	7	12	5	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:72521917C>A	uc002jkx.2	-	2	464	c.451G>T	c.(451-453)GGG>TGG	p.G151W	CD300LB_uc010wqz.1_Missense_Mutation_p.G151W	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	114	Ig-like V-type.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)	1						ACTTGAGTCCCAAGGTCAGGT	0.522													A	72521917	C	A	72521917	3	1	20	1	0	0	0	0	1	0	0	0	2999	594	21	5	277	5	CD300LB	17	72521917	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	5396150	72521917	8673293	1678	19349											
NUP85	79902	broad.mit.edu	37	chr17	73227720	73227720	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagtacgcctcgggactgTttgctcatcccaggtaggaa	13	10	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:73227720T>C	uc002jng.1	+	13	1491	c.1231T>C	c.(1231-1233)TTT>CTT	p.F411L	NUP85_uc010dgd.1_Missense_Mutation_p.F366L|NUP85_uc010wrv.1_Missense_Mutation_p.F365L|NUP85_uc002jnh.1_Missense_Mutation_p.F14L	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	411					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CTCGGGACTGTTTGCTCATCC	0.547													C	73227720	T	C	73227720	3	2	20	1	0	0	0	0	1	0	0	0	10770	1725	60	3	1281	3	NUP85	17	73227720	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	705803	73227720	7967490	1679	19350											
RECQL5	9400	broad.mit.edu	37	chr17	73654438	73654438	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcccggtcattcctggaGtaatagagacggcaccagga	13	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:73654438G>A	uc010dgl.2	-	7	1245	c.1089C>T	c.(1087-1089)TAC>TAT	p.Y363Y	RECQL5_uc010dgk.2_Silent_p.Y336Y|RECQL5_uc002jpb.1_Silent_p.Y363Y|RECQL5_uc002joz.3_Silent_p.Y363Y|RECQL5_uc002jpa.3_Silent_p.Y363Y	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	363	Helicase C-terminal.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CATTCCTGGAGTAATAGAGAC	0.542								Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	73654438	G	A	73654438	2	1	20	1	0	0	0	0	0	0	0	1	13203	1024	36	4		4	RECQL5	17	73654438	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	426718	73654438	7540772	1680	19351											
RECQL5	9400	broad.mit.edu	37	chr17	73654499	73654499	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccggccagactcctggtagTacccagccatagacttggca	10	15	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:73654499T>C	uc010dgl.2	-	7	1184	c.1028A>G	c.(1027-1029)TAC>TGC	p.Y343C	RECQL5_uc010dgk.2_Missense_Mutation_p.Y316C|RECQL5_uc002jpb.1_Missense_Mutation_p.Y343C|RECQL5_uc002joz.3_Missense_Mutation_p.Y343C|RECQL5_uc002jpa.3_Missense_Mutation_p.Y343C	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	343	Helicase C-terminal.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTCCTGGTAGTACCCAGCCAT	0.547								Other_identified_genes_with_known_or_suspected_DNA_repair_function					C	73654499	T	C	73654499	3	2	20	1	0	0	0	0	1	0	0	0	13203	1638	57	3	2090	3	RECQL5	17	73654499	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	61	73654499	7540711	1681	19352											
FOXJ1	2302	broad.mit.edu	37	chr17	74136150	74136150	+	Frame_Shift_Del	DEL	G	G	-													gtggcgtagtccacgtcgtcGgggggtggggcctgcagccc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:74136149_74136149CG>C	uc002jqx.3	-	1	683	c.328_328CG>G	c.(328-330)gacfs	p.D110fs	LOC100507218_uc002jqy.2_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	110					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.D110D(1)		large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			TCCACGTCGTCGGGGGGTGGG	0.706													-	74136150	G	-	74136150	7	5	20	1	0	1	0	1	0	0	0	0	6011	1103	39	0	946	0	FOXJ1	17	74136150	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	481651	74136150	7059060	1682	19353											
UBE2O	63893	broad.mit.edu	37	chr17	74395938	74395938	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cttccatggaatggtcccggGaacactgggtgtctggggag	16	9	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:74395938G>C	uc002jrm.3	-	9	1285	c.1220C>G	c.(1219-1221)TCC>TGC	p.S407C	UBE2O_uc002jrn.3_Missense_Mutation_p.S407C|UBE2O_uc002jrl.3_Missense_Mutation_p.S10C	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	407							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						ATGGTCCCGGGAACACTGGGT	0.602													C	74395938	G	C	74395938	3	2	20	1	0	0	0	0	1	0	0	0	16865	1174	41	5	2698	5	UBE2O	17	74395938	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	259788	74395938	6799272	1683	19354											
AANAT	15	broad.mit.edu	37	chr17	74465822	74465822	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgcaccgcgccttccggCagcagggcaggggccccatc	14	18	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:74465822C>T	uc002jro.2	+	4	628	c.394C>T	c.(394-396)CAG>TAG	p.Q132*	AANAT_uc010wte.1_RNA	NM_001088	NP_001079	Q16613	SNAT_HUMAN	arylalkylamine N-acetyltransferase	132	N-acetyltransferase.|Acetyl-CoA binding (By similarity).				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity				0						CGCCTTCCGGCAGCAGGGCAG	0.706													T	74465822	C	T	74465822	4	4	20	1	0	0	0	0	0	1	0	0	18	711	25	2	543	2	AANAT	17	74465822	Nonsense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	69884	74465822	6729388	1684	19355											
DNAH17	8632	broad.mit.edu	37	chr17	76421579	76421579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatgatggccgtgaggaacGactgggggttgaagaagccg	18	7	0	4	rs149945771		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:76421579G>A	uc010dhp.1	-	25	4211	c.3989C>T	c.(3988-3990)TCG>TTG	p.S1330L	DNAH17_uc002jvq.2_Missense_Mutation_p.S615L|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)			CGTGAGGAACGACTGGGGGTT	0.602													A	76421579	G	A	76421579	3	1	20	1	0	0	0	0	1	0	0	0	4601	1059	37	1	407	1	DNAH17	17	76421579	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1955757	76421579	4773631	1685	19356											
AATK	9625	broad.mit.edu	37	chr17	79095107	79095107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcctggcctgcaggccgtCgctggacgtgtcggtgaaga	15	13	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:79095107C>T	uc010dia.2	-	11	2709	c.2629G>A	c.(2629-2631)GAC>AAC	p.D877N	AATK_uc010dhz.2_RNA	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	877						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGCAGGCCGTCGCTGGACGTG	0.672													T	79095107	C	T	79095107	3	4	20	1	0	0	0	0	1	0	0	0	26	884	31	1	1511	1	AATK	17	79095107	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2673528	79095107	2100103	1686	19357											
FASN	2194	broad.mit.edu	37	chr17	80043423	80043423	+	Frame_Shift_Del	DEL	G	G	-													gaaggccacgatgtccccgaGggggtgcccccggagcagtg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:80043423delG	uc002kdu.2	-	23	4174	c.4057delC	c.(4057-4059)CTCfs	p.L1353fs	FASN_uc002kdw.1_Frame_Shift_Del_p.L569fs	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	1353				LGDI -> SGH (in Ref. 2; AAA73576).	energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	ATGTCCCCGAGGGGGTGCCCC	0.706													-	80043423	G	-	80043423	7	5	20	1	0	1	0	1	0	0	0	0	5683	1000	35	0	3562	0	FASN	17	80043423	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	948316	80043423	1151787	1687	19358											
RAB40B	10966	broad.mit.edu	37	chr17	80615775	80615776	+	Frame_Shift_Ins	INS	-	-	G													tgtttctggtgcagtttttgINSggggggctctggggggggcg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:80615774_80615775T>TG	uc002kft.3	-	5	927_928	c.801_802A>CA	c.(799-804)cccaaafs	p.P267fs	RAB40B_uc002kfs.3_Non-coding_Transcript	NM_006822	NP_006813	Q12829	RB40B_HUMAN	Homo sapiens RAB40B, member RAS oncogene family (RAB40B), mRNA.	267					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GTGCAGTTTTTGGGGGGGCTCT	0.584													G	80615776	-	G	80615775	7	5	20	1	0	1	1	0	0	0	0	0	12941	1335	47	0	39	0	RAB40B	17	80615775	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	572352	80615775	579435	1688	19359											
THOC1	9984	broad.mit.edu	37	chr18	215507	215507	+	Splice_Site	DEL	A	A	-													tatttcttcagaaggaggctAaaaatgagaaagaagaatgt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:215506_215506TA>T	uc002kkj.4	-	20	1643	c.1603_splice	c.e20-1	p.P535_splice	THOC1_uc002kkh.4_Splice_Site_p.P159_splice	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	Homo sapiens THO complex 1 (THOC1), mRNA.	535					RNA splicing|apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|signal transduction|transcription, DNA-dependent	THO complex part of transcription export complex|cytoplasm|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AGAAGGAGGCTAAAAATGAGA	0.368													-	215507	A	-	215507	8	5	20	1	0	1	0	1	0	0	1	0	15861	377	13	0		0	THOC1	18	215507	Splice_Site	DEL	A	TCGA-BR-4362-01A-01D-1158-08		215507	77861741	1689	19360											
COLEC12	81035	broad.mit.edu	37	chr18	331668	331668	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcttctgagtacttacTtgtagtctggagatgtccca	11	8	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:331668T>C	uc002kkm.2	-	8	2278	c.2063A>G	c.(2062-2064)AAA>AGA	p.K688R		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	688	Extracellular (Potential).|C-type lectin.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GAGTACTTACTTGTAGTCTGG	0.488													C	331668	T	C	331668	3	2	20	1	0	0	0	0	1	0	0	0	3712	1623	56	3	177	3	COLEC12	18	331668	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	116161	331668	77745580	1690	19361											
COLEC12	81035	broad.mit.edu	37	chr18	348092	348092	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcaggtcactttccactgCtgtgagcttgtcatcatagg	9	10	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:348092C>A	uc002kkm.2	-	4	468	c.253G>T	c.(253-255)GCA>TCA	p.A85S		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	85	Potential.|Extracellular (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CTTTCCACTGCTGTGAGCTTG	0.388													A	348092	C	A	348092	3	1	20	1	0	0	0	0	1	0	0	0	3712	797	28	5	2003	5	COLEC12	18	348092	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	16424	348092	77729156	1691	19362											
YES1	7525	broad.mit.edu	37	chr18	732942	732942	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcagcttcaggagctgTccatttgattggaaattttg	11	7	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:732942T>C	uc002kky.2	-	11	1536	c.1315A>G	c.(1315-1317)ACA>GCA	p.T439A	YES1_uc002kkz.2_Missense_Mutation_p.T439A	NM_005433	NP_005424	P07947	YES_HUMAN	viral oncogene yes-1 homolog 1	439	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|ovary(1)	3					Dasatinib(DB01254)	TCAGGAGCTGTCCATTTGATT	0.373													C	732942	T	C	732942	3	2	20	1	0	0	0	0	1	0	0	0	17471	1667	58	3	324	3	YES1	18	732942	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	384850	732942	77344306	1692	19363											
SMCHD1	23347	broad.mit.edu	37	chr18	2718224	2718224	+	Frame_Shift_Del	DEL	A	A	-													gaaaatggccttactggtttAaaaaaatgggtgagttctta							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:2718223_2718223TA>T	uc002klm.4	+	17	2517	c.2328_2328TA>T	c.(2326-2328)tttfs	p.F776fs	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	776					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CTTACTGGTTTAAAAAAATGG	0.274													-	2718224	A	-	2718224	7	5	20	1	0	1	0	1	0	0	0	0	14788	363	13	0	2399	0	SMCHD1	18	2718224	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	1985282	2718224	75359024	1693	19364											
LPIN2	9663	broad.mit.edu	37	chr18	2937883	2937883	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agggctctgggtttgggcttCactatggtacagacagtgtc	14	8	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:2937883C>T	uc002klo.2	-	7	1214	c.975G>A	c.(973-975)GTG>GTA	p.V325V		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	lipin 2	325					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			ovary(1)|skin(1)	2				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GTTTGGGCTTCACTATGGTAC	0.473													T	2937883	C	T	2937883	2	4	20	1	0	0	0	0	0	0	0	1	8919	813	29	4		4	LPIN2	18	2937883	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	219659	2937883	75139365	1694	19365											
LRRC30	339291	broad.mit.edu	37	chr18	7231916	7231916	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtgtagactggtgaggatCgcctggaatcccatggacaa	13	9	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:7231916C>T	uc010wzk.1	+	1	780	c.780C>T	c.(778-780)ATC>ATT	p.I260I		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	260										ovary(1)|liver(1)	2						TGGTGAGGATCGCCTGGAATC	0.587													T	7231916	C	T	7231916	2	4	20	1	0	0	0	0	0	0	0	1	8985	874	31	1		1	LRRC30	18	7231916	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	4294033	7231916	70845332	1695	19366											
KIAA0802	23255	broad.mit.edu	37	chr18	8824926	8824926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgacaggaccgaggtggggCgggcagggcacgaggacagc	20	11	0	0	rs141975395	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:8824926C>T	uc002knr.2	+	15	3560	c.3418C>T	c.(3418-3420)CGG>TGG	p.R1140W	KIAA0802_uc002knq.2_Missense_Mutation_p.R1099W|KIAA0802_uc002kns.2_Missense_Mutation_p.R480W	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1450											0						CGAGGTGGGGCGGGCAGGGCA	0.617													T	8824926	C	T	8824926	3	4	20	1	0	0	0	0	1	0	0	0	8194	759	27	1	3468	1	KIAA0802	18	8824926	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1593010	8824926	69252322	1696	19367											
FAM38B	63895	broad.mit.edu	37	chr18	10696408	10696408	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accccaaaggcccaaaagccGaagacaatgatgatgaagtc	9	11	0	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:10696408G>A	uc002kor.3	-	4	629	c.489C>T	c.(487-489)TTC>TTT	p.F163F	FAM38B_uc002koq.2_Silent_p.F61F	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2206	Helical; (Potential).					integral to membrane	ion channel activity			ovary(1)	1						CCCAAAAGCCGAAGACAATGA	0.547													A	10696408	G	A	10696408	2	1	20	1	0	0	0	0	0	0	0	1	5555	1049	37	1		1	FAM38B	18	10696408	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1871482	10696408	67380840	1697	19368											
CHMP1B	57132	broad.mit.edu	37	chr18	11851987	11851987	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggaaatggcagatgaGgcgggcctcgacctcaacat	12	12	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:11851987G>T	uc002kqe.2	+	1	599	c.477G>T	c.(475-477)GAG>GAT	p.E159D	GNAL_uc002kqc.2_Intron|GNAL_uc010dkz.2_Intron|GNAL_uc002kqd.2_Intron	NM_020412	NP_065145	Q7LBR1	CHM1B_HUMAN	chromatin modifying protein 1B	159				DE->AA: Diminishes interaction with VPS4B.	cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding				0						TGGCAGATGAGGCGGGCCTCG	0.617													T	11851987	G	T	11851987	3	4	20	1	0	0	0	0	1	0	0	0	3353	991	35	5	479	5	CHMP1B	18	11851987	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1155579	11851987	66225261	1698	19369											
SPIRE1	56907	broad.mit.edu	37	chr18	12453140	12453140	+	Splice_Site	DEL	A	A	-													tcggcaacaaaagcagagctAaaaaatacaaatttaagagg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:12453139_12453139TA>T	uc002kre.3	-	14	1824	c.1777_splice	c.e14-1	p.L593_splice	SPIRE1_uc002krc.3_Splice_Site|SPIRE1_uc010wzw.2_Splice_Site_p.L459_splice|SPIRE1_uc010wzx.2_Splice_Site_p.L382_splice|SPIRE1_uc010wzy.2_Splice_Site_p.L579_splice	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	Homo sapiens spire homolog 1 (Drosophila) (SPIRE1), transcript variant 1, mRNA.	593						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						AAAGCAGAGCTAAAAAATACA	0.338													-	12453140	A	-	12453140	8	5	20	1	0	1	0	1	0	0	1	0	15070	377	13	0		0	SPIRE1	18	12453140	Splice_Site	DEL	A	TCGA-BR-4362-01A-01D-1158-08	601153	12453140	65624108	1699	19370											
C18orf19	125228	broad.mit.edu	37	chr18	13681823	13681823	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaaacatgttgcttccctTgcttatggcgaaggactcct	9	10	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:13681823T>C	uc010dlh.2	-	3	686	c.254A>G	c.(253-255)CAA>CGA	p.Q85R	C18orf19_uc010dlg.2_Missense_Mutation_p.Q85R|C18orf19_uc010dli.2_Missense_Mutation_p.Q85R|C18orf19_uc002ksj.3_Missense_Mutation_p.Q85R|C18orf19_uc010dlj.2_Intron	NM_001098801	NP_001092271	Q96ND0	CR019_HUMAN	hypothetical protein LOC125228	85						integral to membrane				breast(2)	2						TTGCTTCCCTTGCTTATGGCG	0.478													C	13681823	T	C	13681823	3	2	20	1	0	0	0	0	1	0	0	0	1896	1812	63	3	576	3	C18orf19	18	13681823	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1228683	13681823	64395425	1700	19371											
LAMA3	3909	broad.mit.edu	37	chr18	21422380	21422380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaagtgaccctgagaggaCgtgtaccacacctgggccga	12	12	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:21422380C>T	uc002kuq.2	+	28	3444	c.3358C>T	c.(3358-3360)CGT>TGT	p.R1120C	LAMA3_uc002kur.2_Missense_Mutation_p.R1120C	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1120	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTGAGAGGACGTGTACCACA	0.488													T	21422380	C	T	21422380	3	4	20	1	0	0	0	0	1	0	0	0	8607	536	19	1	3468	1	LAMA3	18	21422380	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	7740557	21422380	56654868	1701	19372											
DSC2	1824	broad.mit.edu	37	chr18	28654830	28654830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgggctgttatcattcacGtcttgaagtataatgcccag	9	8	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:28654830G>A	uc002kwl.3	-	12	2161	c.1707C>T	c.(1705-1707)GAC>GAT	p.D569D	DSC2_uc002kwk.3_Silent_p.D569D	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	569	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TATCATTCACGTCTTGAAGTA	0.398													A	28654830	G	A	28654830	2	1	20	1	0	0	0	0	0	0	0	1	4766	1136	40	1		1	DSC2	18	28654830	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	7232450	28654830	49422418	1702	19373											
FAM59A	64762	broad.mit.edu	37	chr18	29867432	29867432	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggactgggtgagctcatcGcgggcgtagctgagcgaatt	16	8	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:29867432G>A	uc002kxl.2	-	4	1184	c.1128C>T	c.(1126-1128)CGC>CGT	p.R376R	FAM59A_uc002kxk.1_Silent_p.R376R	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	376										ovary(1)|skin(1)	2						TGAGCTCATCGCGGGCGTAGC	0.562													A	29867432	G	A	29867432	2	1	20	1	0	0	0	0	0	0	0	1	5592	1074	38	1		1	FAM59A	18	29867432	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1212602	29867432	48209816	1703	19374											
KLHL14	57565	broad.mit.edu	37	chr18	30260447	30260447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaaagaggacacatagcGccattcattcgtttctaggt	10	9	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:30260447G>A	uc002kxm.1	-	6	1742	c.1354C>T	c.(1354-1356)CGC>TGC	p.R452C	KLHL14_uc010dmd.1_5'UTR	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	452	Kelch 3.					cytosol|endoplasmic reticulum membrane		p.R452C(1)		ovary(1)	1						GACACATAGCGCCATTCATTC	0.468													A	30260447	G	A	30260447	3	1	20	1	0	0	0	0	1	0	0	0	8370	1087	38	1	548	1	KLHL14	18	30260447	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	393015	30260447	47816801	1704	19375											
DTNA	1837	broad.mit.edu	37	chr18	32346001	32346001	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtttgttcagaagaaatgCaattgtaagtatgccagttg	11	4	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:32346001C>T	uc010dmn.1	+	2	145	c.144C>T	c.(142-144)TGC>TGT	p.C48C	DTNA_uc002kxu.2_Silent_p.C48C|DTNA_uc010xbx.1_Silent_p.C48C|DTNA_uc002kxv.3_Silent_p.C48C|DTNA_uc002kxw.2_Silent_p.C48C|DTNA_uc002kxx.2_Silent_p.C48C|DTNA_uc010dmj.2_Silent_p.C48C|DTNA_uc002kxz.2_Silent_p.C48C|DTNA_uc002kxy.2_Silent_p.C48C|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Silent_p.C48C|DTNA_uc002kyb.3_Silent_p.C48C|DTNA_uc010dmm.2_Silent_p.C48C	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	48	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0						AGAAGAAATGCAATTGTAAGT	0.388													T	32346001	C	T	32346001	2	4	20	1	0	0	0	0	0	0	0	1	4788	718	25	2		2	DTNA	18	32346001	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2085554	32346001	45731247	1705	19376											
DTNA	1837	broad.mit.edu	37	chr18	32391993	32391993	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgaccaattccttcgggaAgttctcaaactacccacggc	7	13	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:32391993A>C	uc010dmn.1	+	5	520	c.519A>C	c.(517-519)GAA>GAC	p.E173D	DTNA_uc002kxu.2_Missense_Mutation_p.E173D|DTNA_uc010xbx.1_Missense_Mutation_p.E173D|DTNA_uc002kxv.3_Missense_Mutation_p.E173D|DTNA_uc002kxw.2_Missense_Mutation_p.E173D|DTNA_uc002kxx.2_Missense_Mutation_p.E173D|DTNA_uc010dmj.2_Missense_Mutation_p.E173D|DTNA_uc002kxz.2_Missense_Mutation_p.E173D|DTNA_uc002kxy.2_Missense_Mutation_p.E173D|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Missense_Mutation_p.E173D|DTNA_uc002kyb.3_Missense_Mutation_p.E173D|DTNA_uc010dmm.2_Missense_Mutation_p.E173D	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	173	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0						TCCTTCGGGAAGTTCTCAAAC	0.408													C	32391993	A	C	32391993	3	2	20	1	0	0	0	0	1	0	0	0	4788	69	3	5	537	5	DTNA	18	32391993	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	45992	32391993	45685255	1706	19377											
SLC14A2	8170	broad.mit.edu	37	chr18	43205723	43205723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaggagtaaaaggaaagacGacggggtggcccatcgggac	16	7	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:43205723G>A	uc010dnj.2	+	4	547	c.226G>A	c.(226-228)GAC>AAC	p.D76N	SLC14A2_uc002lbb.2_Missense_Mutation_p.D76N|SLC14A2_uc002lbe.2_Missense_Mutation_p.D76N	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	76						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						AAGGAAAGACGACGGGGTGGC	0.512													A	43205723	G	A	43205723	3	1	20	1	0	0	0	0	1	0	0	0	14397	1058	37	1	232	1	SLC14A2	18	43205723	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	10813730	43205723	34871525	1707	19378											
KIAA1632	57724	broad.mit.edu	37	chr18	43532417	43532417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaacagctgaactactgaGcaatgcatagatgtaagact	9	8	0	5			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:43532417G>A	uc002lbm.2	-	3	1301	c.1201C>T	c.(1201-1203)CTC>TTC	p.L401F	KIAA1632_uc002lbo.1_Missense_Mutation_p.L401F	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	401					autophagy						0						GAACTACTGAGCAATGCATAG	0.423													A	43532417	G	A	43532417	3	1	20	1	0	0	0	0	1	0	0	0	8249	971	34	2	6706	2	KIAA1632	18	43532417	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	326694	43532417	34544831	1708	19379											
HAUS1	115106	broad.mit.edu	37	chr18	43685174	43685175	+	Frame_Shift_Ins	INS	-	-	A													gttaggttgctgcgtggttaINSaaaaaaatatttggagatca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:43685173_43685174T>TA	uc002lbu.3	+	1	124_125	c.44_45T>TA	c.(43-45)ttafs	p.L15fs	ATP5A1_uc002lbt.1_5'Flank|HAUS1_uc002lbv.3_5'UTR	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 1 (HAUS1), transcript variant 1, mRNA.	15					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GCTGCGTGGTTAAAAAAAATAT	0.391													A	43685175	-	A	43685174	7	5	20	1	0	1	1	0	0	0	0	0	6965	359	13	0	51	0	HAUS1	18	43685174	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	152757	43685174	34392074	1709	19380											
RNF165	494470	broad.mit.edu	37	chr18	44036544	44036544	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggctcgccatgagcaAgaaatgccccatctgccgag	11	14	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:44036544A>C	uc002lcb.1	+	8	1037	c.986A>C	c.(985-987)AAG>ACG	p.K329T	RNF165_uc002lby.1_Missense_Mutation_p.K262T|RNF165_uc010dnn.1_Missense_Mutation_p.K125T	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	ring finger protein 165	329	RING-type; atypical.						zinc ion binding				0				READ - Rectum adenocarcinoma(1;0.0873)		GCCATGAGCAAGAAATGCCCC	0.577													C	44036544	A	C	44036544	3	2	20	1	0	0	0	0	1	0	0	0	13456	72	3	5	1016	5	RNF165	18	44036544	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	351370	44036544	34040704	1710	19381											
MYO5B	4645	broad.mit.edu	37	chr18	47511134	47511134	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcaaagtcctcagcatcGtccacaccctcgatggaagt	7	14	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:47511134G>A	uc002leb.2	-	8	1188	c.900C>T	c.(898-900)GAC>GAT	p.D300D	MYO5B_uc002lec.1_Silent_p.D299D	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	300	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		CCTCAGCATCGTCCACACCCT	0.557													A	47511134	G	A	47511134	2	1	20	1	0	0	0	0	0	0	0	1	10079	1136	40	1		1	MYO5B	18	47511134	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3474590	47511134	30566114	1711	19382											
DCC	1630	broad.mit.edu	37	chr18	50278453	50278453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaagctttcacagcactgCgcttcctctcagaaccttct	5	14	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:50278453C>T	uc002lfe.1	+	2	708	c.121C>T	c.(121-123)CGC>TGC	p.R41C	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	41	Extracellular (Potential).|Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACAGCACTGCGCTTCCTCTC	0.478													T	50278453	C	T	50278453	3	4	20	1	0	0	0	0	1	0	0	0	4282	768	27	1	127	1	DCC	18	50278453	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2767319	50278453	27798795	1712	19383											
STARD6	147323	broad.mit.edu	37	chr18	51851166	51851166	+	Frame_Shift_Del	DEL	T	T	-													tactaagttggaaggcatggTtttttcaattattgatgggg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:51851165_51851165GT>G	uc010xdt.2	-	5	560	c.560_560AC>C	c.(559-561)accfs	p.T187fs		NM_139171	NP_631910	P59095	STAR6_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA.	187	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		GGAAGGCATGGTTTTTTCAAT	0.368													-	51851166	T	-	51851166	7	5	20	1	0	1	0	1	0	0	0	0	15260	1725	60	0	106	0	STARD6	18	51851166	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	1572713	51851166	26226082	1713	19384											
ZNF532	55205	broad.mit.edu	37	chr18	56586354	56586354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccatcgcggctctcagcGctaaaaaggcggcttcagac	11	14	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:56586354G>A	uc002lho.2	+	4	1382	c.835G>A	c.(835-837)GCT>ACT	p.A279T	ZNF532_uc002lhp.2_Missense_Mutation_p.A277T|ZNF532_uc010xeg.1_Missense_Mutation_p.A277T|ZNF532_uc002lhr.2_Missense_Mutation_p.A277T|ZNF532_uc002lhs.2_Missense_Mutation_p.A277T	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						GGCTCTCAGCGCTAAAAAGGC	0.557													A	56586354	G	A	56586354	3	1	20	1	0	0	0	0	1	0	0	0	17969	1087	38	1	837	1	ZNF532	18	56586354	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	4735188	56586354	21490894	1714	19385											
HMSD	284293	broad.mit.edu	37	chr18	61621687	61621687	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaagatggagatattcatCgaggttttcagtcacttctt	10	6	4	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:61621687C>T	uc010dqj.2	+	3	267	c.118C>T	c.(118-120)CGA>TGA	p.R40*		NM_001123366	NP_001116838	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain	40						extracellular region	serine-type endopeptidase inhibitor activity				0						AGATATTCATCGAGGTTTTCA	0.348													T	61621687	C	T	61621687	4	4	20	1	0	0	0	0	0	1	0	0	7246	876	31	1	124	1	HMSD	18	61621687	Nonsense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	5035333	61621687	16455561	1715	19386											
DSEL	92126	broad.mit.edu	37	chr18	65180462	65180462	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgtcctgggttaaaacTtctccacccatcaatccagg	6	14	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:65180462T>G	uc002lke.1	-	2	2638	c.1414A>C	c.(1414-1416)AGT>CGT	p.S472R		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	462						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				GGGTTAAAACTTCTCCACCCA	0.443													G	65180462	T	G	65180462	3	3	20	1	0	0	0	0	1	0	0	0	4775	1609	56	5	2258	5	DSEL	18	65180462	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3558775	65180462	12896786	1716	19387											
SOCS6	9306	broad.mit.edu	37	chr18	67993058	67993058	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttgcaaagcaaggatggtActggggaccaatcacacgtt	11	9	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:67993058A>G	uc002lkr.1	+	2	1470	c.1154A>G	c.(1153-1155)TAC>TGC	p.Y385C	SOCS6_uc010dqq.2_Missense_Mutation_p.Y385C	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	385	SH2.				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)|lung(1)	2		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CAAGGATGGTACTGGGGACCA	0.488													G	67993058	A	G	67993058	3	3	20	1	0	0	0	0	1	0	0	0	14918	391	14	3	1156	3	SOCS6	18	67993058	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2812596	67993058	10084190	1717	19388											
ZNF236	7776	broad.mit.edu	37	chr18	74617125	74617125	+	Frame_Shift_Del	DEL	A	A	-													tttaagatcccatacaggtgAaaaaccttttaaatgttctc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:74617124_74617124GA>G	uc002lmi.3	+	12	2242	c.2044_2044GA>G	c.(2044-2046)gaafs	p.E682fs	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	682					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCATACAGGTGAAAAACCTTT	0.358													-	74617125	A	-	74617125	7	5	20	1	0	1	0	1	0	0	0	0	17786	246	9	0	2095	0	ZNF236	18	74617125	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	6624067	74617125	3460123	1718	19389											
ZNF236	7776	broad.mit.edu	37	chr18	74649204	74649204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcatgtcctcgtcgggcGtgggaggtgacgctagtgtc	17	9	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:74649204G>A	uc002lmi.2	+	26	4879	c.4681G>A	c.(4681-4683)GTG>ATG	p.V1561M	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1561					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CTCGTCGGGCGTGGGAGGTGA	0.542													A	74649204	G	A	74649204	3	1	20	1	0	0	0	0	1	0	0	0	17786	1145	40	1	4783	1	ZNF236	18	74649204	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	32079	74649204	3428044	1719	19390											
KCNG2	26251	broad.mit.edu	37	chr18	77659062	77659062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagtgctcccccaagtgccGcagcctgttcgtgctggaga	13	14	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:77659062G>A	uc010xfl.1	+	2	647	c.647G>A	c.(646-648)CGC>CAC	p.R216H		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	216					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCCAAGTGCCGCAGCCTGTTC	0.706													A	77659062	G	A	77659062	3	1	20	1	0	0	0	0	1	0	0	0	8028	1087	38	1	653	1	KCNG2	18	77659062	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3009858	77659062	418186	1720	19391											
PQLC1	80148	broad.mit.edu	37	chr18	77679327	77679327	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtgatgtagcccgccacGcccgtgaaggccaggacgca	14	13	0	2	rs34425104	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:77679327G>A	uc002lnl.2	-	5	637	c.465C>T	c.(463-465)GGC>GGT	p.G155G	PQLC1_uc010dre.2_Silent_p.G72G|PQLC1_uc002lnk.2_Silent_p.G137G|PQLC1_uc010xfm.1_Intron	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1 isoform 1	155	Helical; (Potential).					integral to membrane				large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		AGCCCGCCACGCCCGTGAAGG	0.632													A	77679327	G	A	77679327	2	1	20	1	0	0	0	0	0	0	0	1	12418	1074	38	1		1	PQLC1	18	77679327	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	20265	77679327	397921	1721	19392											
PPAP2C	8612	broad.mit.edu	37	chr19	288132	288132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaaaatcctcgcttgtacGgggcgttcaccagcgtcagg	12	11	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:288132G>A	uc002loi.2	-	2	191	c.92C>T	c.(91-93)CCG>CTG	p.P31L	PPAP2C_uc002loh.2_Missense_Mutation_p.P52L|PPAP2C_uc002loj.2_5'UTR	NM_003712	NP_003703	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C isoform 1	31					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGCTTGTACGGGGCGTTCAC	0.627													A	288132	G	A	288132	3	1	20	1	0	0	0	0	1	0	0	0	12292	1116	39	1	794	1	PPAP2C	19	288132	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08		288132	58840851	1722	19393											
MIER2	54531	broad.mit.edu	37	chr19	313553	313553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccggccatctcgtgccaaCgccgcttcaccgccctgtac	9	20	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:313553C>T	uc002lok.1	-	8	755	c.746G>A	c.(745-747)CGT>CAT	p.R249H		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family	249	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCGTGCCAACGCCGCTTCAC	0.652													T	313553	C	T	313553	3	4	20	1	0	0	0	0	1	0	0	0	9581	536	19	1	919	1	MIER2	19	313553	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	25421	313553	58815430	1723	19394											
THEG	51298	broad.mit.edu	37	chr19	362241	362241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcacacttttctggtgatgCttttgggggtggcaagctca	12	8	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:362241C>T	uc002lol.2	-	8	1138	c.1099G>A	c.(1099-1101)GCA>ACA	p.A367T	THEG_uc002lom.2_Missense_Mutation_p.A343T	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Theg homolog isoform 1	367					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			ovary(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGGTGATGCTTTTGGGGGT	0.577													T	362241	C	T	362241	3	4	20	1	0	0	0	0	1	0	0	0	15854	797	28	2	44	2	THEG	19	362241	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	48688	362241	58766742	1724	19395											
BSG	682	broad.mit.edu	37	chr19	580705	580705	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaacgagggggagacggccAtgctggtctgcaagtcagag	16	9	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:580705A>G	uc002loz.2	+	5	813	c.715A>G	c.(715-717)ATG>GTG	p.M239V	BSG_uc002loy.2_Missense_Mutation_p.M59V|BSG_uc002lpa.2_Missense_Mutation_p.M123V|BSG_uc002lpb.2_RNA|BSG_uc010drr.2_Missense_Mutation_p.M123V|BSG_uc002lpc.2_Missense_Mutation_p.M286V|BSG_uc002lpd.2_5'Flank	NM_001728	NP_001719	P35613	BASI_HUMAN	basigin isoform 1 precursor	239	Extracellular (Potential).|Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGACGGCCATGCTGGTCTG	0.602													G	580705	A	G	580705	3	3	20	1	0	0	0	0	1	0	0	0	1529	217	8	3	769	3	BSG	19	580705	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	218464	580705	58548278	1725	19396											
POLRMT	5442	broad.mit.edu	37	chr19	632888	632888	+	Frame_Shift_Del	DEL	G	G	-													gcggtcttggtcttgctcctGggggctggcggacgagctcc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:632888delG	uc002lpf.1	-	2	195	c.139delC	c.(139-141)CAGfs	p.Q47fs		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	47					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTGCTCCTGGGGGCTGGCG	0.751													-	632888	G	-	632888	7	5	20	1	0	1	0	1	0	0	0	0	12238	1357	47	0	3633	0	POLRMT	19	632888	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	52183	632888	58496095	1726	19397											
LPPR3	79948	broad.mit.edu	37	chr19	814902	814902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccgtgcagacaggatggCgtggatgtcgtggccggagc	17	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:814902C>T	uc002lpx.1	-	5	647	c.583G>A	c.(583-585)GCC>ACC	p.A195T	LPPR3_uc010dru.1_Missense_Mutation_p.A107T|LPPR3_uc002lpw.1_Missense_Mutation_p.A195T|LPPR3_uc002lpy.1_5'UTR	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	plasticity-related protein 2	195						integral to membrane	phosphatidate phosphatase activity				0						GACAGGATGGCGTGGATGTCG	0.627													T	814902	C	T	814902	3	4	20	1	0	0	0	0	1	0	0	0	8926	768	27	1	1669	1	LPPR3	19	814902	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	182014	814902	58314081	1727	19398											
HMHA1	23526	broad.mit.edu	37	chr19	1074128	1074128	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccgccgaggaggtggaCgtgctgctacagcgctgtga	16	12	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:1074128C>T	uc002lqz.1	+	7	1047	c.816C>T	c.(814-816)GAC>GAT	p.D272D	HMHA1_uc010xgd.1_Silent_p.D288D|HMHA1_uc010xge.1_Silent_p.D112D|HMHA1_uc002lra.1_Silent_p.D112D|HMHA1_uc002lrb.1_Silent_p.D155D	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	272					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGGTGGACGTGCTGCTAC	0.657													T	1074128	C	T	1074128	2	4	20	1	0	0	0	0	0	0	0	1	7240	535	19	1		1	HMHA1	19	1074128	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	259226	1074128	58054855	1728	19399											
C19orf26	255057	broad.mit.edu	37	chr19	1231034	1231035	+	Frame_Shift_Ins	INS	-	-	G													gcgctccctgggccgcctagINSgggggggcgaaggggggcaa							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:1231033_1231034A>AG	uc002lrm.2	-	8	1477_1478	c.1202_1203T>CT	c.(1201-1203)cctfs	p.P401fs		NM_152769	NP_689982	Q8N350	DOS_HUMAN	Homo sapiens chromosome 19 open reading frame 26 (C19orf26), mRNA.	437						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCCGCCTAGGGGGGGGCGA	0.708										HNSCC(14;0.022)			G	1231035	-	G	1231034	7	5	20	1	0	1	1	0	0	0	0	0	1916	1000	35	0	145	0	C19orf26	19	1231034	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	156906	1231034	57897949	1729	19400											
DAZAP1	26528	broad.mit.edu	37	chr19	1434830	1434830	+	Frame_Shift_Del	DEL	G	G	-													ggtccctccgtgccagggtcGgggggcccccccgccggcgg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:1434829_1434829CG>C	uc002lsn.3	+	11	1331	c.1142_1142CG>C	c.(1141-1143)tcgfs	p.S381fs	DAZAP1_uc002lsm.3_3'UTR	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	Homo sapiens DAZ associated protein 1 (DAZAP1), transcript variant 2, mRNA.	381	Pro-rich.		S -> T (in a breast cancer sample; somatic mutation).		cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding	p.S381T(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCCAGGGTcggggggcccc	0.711													-	1434830	G	-	1434830	7	5	20	1	0	1	0	1	0	0	0	0	4244	1103	39	0	1282	0	DAZAP1	19	1434830	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	203796	1434830	57694153	1730	19401											
ADAMTSL5	339366	broad.mit.edu	37	chr19	1510219	1510219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccattgtacagggcacaCtgtaggtctcggaagggcac	14	11	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:1510219C>T	uc002ltd.2	-	5	735	c.291G>A	c.(289-291)CAG>CAA	p.Q97Q	ADAMTSL5_uc010dsl.2_Translation_Start_Site|ADAMTSL5_uc010xgq.1_Silent_p.Q107Q	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5 precursor	97						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGGGCACACTGTAGGTCTC	0.627													T	1510219	C	T	1510219	2	4	20	1	0	0	0	0	0	0	0	1	278	564	20	4		4	ADAMTSL5	19	1510219	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	75389	1510219	57618764	1731	19402											
ATP8B3	148229	broad.mit.edu	37	chr19	1789638	1789638	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgtagaggaaatccctcctgGactggccgagctcctgccac	11	15	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:1789638G>T	uc002ltw.2	-	23	2801	c.2567C>A	c.(2566-2568)TCC>TAC	p.S856Y	ATP8B3_uc002ltv.2_Missense_Mutation_p.S819Y|ATP8B3_uc002ltx.2_Intron	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	856	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCCTCCTGGACTGGCCGAG	0.706													T	1789638	G	T	1789638	3	4	20	1	0	0	0	0	1	0	0	0	1196	1174	41	5	1363	5	ATP8B3	19	1789638	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	279419	1789638	57339345	1732	19403											
AP3D1	8943	broad.mit.edu	37	chr19	2129435	2129435	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccagctcgcagatgacaTtgacggcagccgactgaacc	12	13	0	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:2129435T>C	uc002luz.2	-	7	837	c.614A>G	c.(613-615)AAT>AGT	p.N205S	AP3D1_uc002luy.2_Intron|AP3D1_uc002lva.2_Missense_Mutation_p.N205S	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	205	HEAT 4.				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGATGACATTGACGGCAGC	0.577													C	2129435	T	C	2129435	3	2	20	1	0	0	0	0	1	0	0	0	746	1493	52	3	3101	3	AP3D1	19	2129435	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	339797	2129435	56999548	1733	19404											
ZNF554	115196	broad.mit.edu	37	chr19	2823039	2823039	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctttttcctccccacagcTctgcctgcccaggaacctgc	7	19	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:2823039T>C	uc002lwm.2	+	2	253	c.55T>C	c.(55-57)TCT>CCT	p.S19P	ZNF554_uc002lwl.2_5'UTR	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCACAGCTCTGCCTGCCC	0.602													C	2823039	T	C	2823039	3	2	20	1	0	0	0	0	1	0	0	0	17982	1565	54	3	61	3	ZNF554	19	2823039	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	693604	2823039	56305944	1734	19405											
GNA11	2767	broad.mit.edu	37	chr19	3118934	3118934	+	Frame_Shift_Del	DEL	G	G	-													cctttcaggatggtggatgtGgggggccagcggtcggagcg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:3118933_3118933TG>T	uc002lxd.3	+	4	859	c.617_617TG>T	c.(616-618)gtgfs	p.V206fs	DKFZp434J194_uc010xhe.2_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), mRNA.	206					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		ATGGTGGATGTGGGGGGCCAG	0.617			Mis		uveal melanoma								-	3118934	G	-	3118934	7	5	20	1	0	1	0	1	0	0	0	0	6499	1335	47	0	636	0	GNA11	19	3118934	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	295895	3118934	56010049	1735	19406											
TJP3	27134	broad.mit.edu	37	chr19	3728677	3728679	+	In_Frame_Del	DEL	GTG	GTG	-													gatccatggttgtatctgacGtggtacctggagggccggcg					rs150589606		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:3728676_3728678CGTG>C	uc010xhv.2	+	1	180_182	c.180_182CGTG>C	c.(178-183)gacgtg>gaCg	p.V62del	TJP3_uc010xhs.2_In_Frame_Del_p.V43del|TJP3_uc010xht.2_In_Frame_Del_p.V7del|TJP3_uc010xhu.2_In_Frame_Del_p.V52del|TJP3_uc010xhw.2_In_Frame_Del_p.V62del	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	43	PDZ 1.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGTATCTGACGTGGTACCTGGA	0.65													-	3728679	GTG	-	3728677	7	5	20	1	0	1	0	1	0	0	0	0	15928	1145	40	0	187	0	TJP3	19	3728677	In_Frame_Del	DEL	GTG	TCGA-BR-4362-01A-01D-1158-08	609743	3728677	55400306	1736	19407											
PIAS4	51588	broad.mit.edu	37	chr19	4037403	4037403	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agatcctgagcgagtgtgagGacgccgacgagatcgagtac	15	9	0	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:4037403G>T	uc002lzg.2	+	10	1184	c.1174G>T	c.(1174-1176)GAC>TAC	p.D392Y		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	392					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGTGTGAGGACGCCGACGA	0.701													T	4037403	G	T	4037403	3	4	20	1	0	0	0	0	1	0	0	0	11878	1174	41	5	1212	5	PIAS4	19	4037403	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	308726	4037403	55091580	1737	19408											
TMIGD2	126259	broad.mit.edu	37	chr19	4292852	4292852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttggggccccccggggcCggtataggacgttgctgtag	16	11	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:4292852C>T	uc002lzx.1	-	5	639	c.593G>A	c.(592-594)CGG>CAG	p.R198Q	TMIGD2_uc010dtv.1_Missense_Mutation_p.R194Q	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain	198	Cytoplasmic (Potential).					integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCCGGGGCCGGTATAGGAC	0.587													T	4292852	C	T	4292852	3	4	20	1	0	0	0	0	1	0	0	0	16228	652	23	1	259	1	TMIGD2	19	4292852	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	255449	4292852	54836131	1738	19409											
UBXN6	80700	broad.mit.edu	37	chr19	4453937	4453937	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catatctcaccctggtttcgGatggtgtcctgcgatgtggg	13	10	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:4453937G>A	uc002man.1	-	2	333	c.237C>T	c.(235-237)ATC>ATT	p.I79I	UBXN6_uc010dty.1_Silent_p.I26I|UBXN6_uc002mam.1_Silent_p.I26I	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	79						microtubule organizing center|nucleus	protein binding				0						CCTGGTTTCGGATGGTGTCCT	0.657													A	4453937	G	A	4453937	2	1	20	1	0	0	0	0	0	0	0	1	16914	1164	41	4		4	UBXN6	19	4453937	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	161085	4453937	54675046	1739	19410											
UHRF1	29128	broad.mit.edu	37	chr19	4932942	4932942	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgagaccaggacggcgcgGgaactctacgccaacgtggt	15	13	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:4932942G>A	uc002mbo.2	+	5	927	c.759G>A	c.(757-759)CGG>CGA	p.R253R	UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Silent_p.R266R	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	253					cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GGACGGCGCGGGAACTCTACG	0.667													A	4932942	G	A	4932942	2	1	20	1	0	0	0	0	0	0	0	1	16964	1219	43	4		4	UHRF1	19	4932942	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	479005	4932942	54196041	1740	19411											
PTPRS	5802	broad.mit.edu	37	chr19	5244164	5244164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacaatcatggtggtcgCgctgagcatccgggcttgca	13	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:5244164C>T	uc002mbv.2	-	11	1552	c.1318G>A	c.(1318-1320)GCG>ACG	p.A440T	PTPRS_uc002mbu.1_Missense_Mutation_p.A427T|PTPRS_uc010xin.1_Missense_Mutation_p.A427T|PTPRS_uc002mbw.2_Missense_Mutation_p.A427T|PTPRS_uc002mbx.2_Missense_Mutation_p.A431T|PTPRS_uc002mby.2_Missense_Mutation_p.A427T	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	440	Extracellular (Potential).|Fibronectin type-III 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		ATGGTGGTCGCGCTGAGCATC	0.711													T	5244164	C	T	5244164	3	4	20	1	0	0	0	0	1	0	0	0	12811	768	27	1	4640	1	PTPRS	19	5244164	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	311222	5244164	53884819	1741	19412											
ZNRF4	148066	broad.mit.edu	37	chr19	5455507	5455507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaagacacgacgcatgcCgctctgccgtccggagcact	10	15	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:5455507C>T	uc002mca.3	+	1	82	c.5C>T	c.(4-6)CCG>CTG	p.P2L		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	2						integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CGACGCATGCCGCTCTGCCGT	0.617													T	5455507	C	T	5455507	3	4	20	1	0	0	0	0	1	0	0	0	18211	652	23	1	7	1	ZNRF4	19	5455507	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	211343	5455507	53673476	1742	19413											
LONP1	9361	broad.mit.edu	37	chr19	5699204	5699204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagccgcggagctggctaaCggcaatgaactcctgcagac	14	12	0	2	rs143983421		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:5699204C>T	uc002mcx.2	-	10	1552	c.1519G>A	c.(1519-1521)GTT>ATT	p.V507I	LONP1_uc002mcy.2_Missense_Mutation_p.V443I|LONP1_uc010duh.2_Missense_Mutation_p.V248I|LONP1_uc010dui.2_Missense_Mutation_p.V491I|LONP1_uc002mcz.2_Missense_Mutation_p.V311I	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	507					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						AGCTGGCTAACGGCAATGAAC	0.647													T	5699204	C	T	5699204	3	4	20	1	0	0	0	0	1	0	0	0	8892	536	19	1	1396	1	LONP1	19	5699204	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	243697	5699204	53429779	1743	19414											
MLLT1	4298	broad.mit.edu	37	chr19	6213094	6213094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctctgcagtttgcgcaCggtggtctcgtccagggaga	15	11	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:6213094C>T	uc002mek.2	-	12	1803	c.1639G>A	c.(1639-1641)GTG>ATG	p.V547M		NM_005934	NP_005925	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	547					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			skin(1)	1						AGTTTGCGCACGGTGGTCTCG	0.642			T	MLL	AL								T	6213094	C	T	6213094	3	4	20	1	0	0	0	0	1	0	0	0	9625	536	19	1	44	1	MLLT1	19	6213094	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	513890	6213094	52915889	1744	19415											
GTF2F1	2962	broad.mit.edu	37	chr19	6380419	6380419	+	Frame_Shift_Del	DEL	T	T	-													ctgtcttcttggtctggaacTttttcagcaggtccttagtg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:6380418_6380418CT>C	uc002meq.2	-	12	1713	c.1428_1428AG>G	c.(1426-1428)aagfs	p.K476fs	GTF2F1_uc010xjb.1_Frame_Shift_Del_p.K297fs|GTF2F1_uc010xjc.1_Frame_Shift_Del_p.K391fs	NM_002096	NP_002087	P35269	T2FA_HUMAN	Homo sapiens general transcription factor IIF, polypeptide 1, 74kDa (GTF2F1), mRNA.	476					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	DNA binding|catalytic activity|phosphatase activator activity|transcription coactivator activity|transcription factor binding	p.K476T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						TGGTCTGGAACTTTTTCAGCA	0.582													-	6380419	T	-	6380419	7	5	20	1	0	1	0	1	0	0	0	0	6858	1609	56	0	130	0	GTF2F1	19	6380419	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	167325	6380419	52748564	1745	19416											
FCER2	2208	broad.mit.edu	37	chr19	7754113	7754113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagagggggtgggcaggCggccgtcagggtctggtctt	22	8	3	1	rs149654388		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:7754113C>T	uc002mhn.2	-	11	1116	c.932G>A	c.(931-933)CGC>CAC	p.R311H	FCER2_uc010xjs.1_Missense_Mutation_p.R233H|FCER2_uc010xjt.1_Missense_Mutation_p.R233H|FCER2_uc002mhm.2_Missense_Mutation_p.R311H	NM_002002	NP_001993	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor	311	Extracellular (Potential).				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding				0						GGTGGGCAGGCGGCCGTCAGG	0.652													T	7754113	C	T	7754113	3	4	20	1	0	0	0	0	1	0	0	0	5776	768	27	1	37	1	FCER2	19	7754113	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1373694	7754113	51374870	1746	19417											
EVI5L	115704	broad.mit.edu	37	chr19	7914211	7914211	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgtgggcctgctcctcAtgcaggtaggtggctggggg	17	10	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:7914211A>G	uc002min.2	+	5	776	c.622A>G	c.(622-624)ATG>GTG	p.M208V	EVI5L_uc010xjz.1_Missense_Mutation_p.M208V|EVI5L_uc002mio.1_5'Flank	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	208	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						CCTGCTCCTCATGCAGGTAGG	0.647													G	7914211	A	G	7914211	3	3	20	1	0	0	0	0	1	0	0	0	5290	217	8	3	636	3	EVI5L	19	7914211	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	160098	7914211	51214772	1747	19418											
SNAPC2	6618	broad.mit.edu	37	chr19	7986931	7986931	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctgccaggtgctcaccatCgcggccacggaaccggtcac	12	17	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:7986931C>T	uc002miw.1	+	4	407	c.384C>T	c.(382-384)ATC>ATT	p.I128I	SNAPC2_uc002mix.1_RNA	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex,	128					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity				0						TGCTCACCATCGCGGCCACGG	0.627													T	7986931	C	T	7986931	2	4	20	1	0	0	0	0	0	0	0	1	14835	874	31	1		1	SNAPC2	19	7986931	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	72720	7986931	51142052	1748	19419											
FBN3	84467	broad.mit.edu	37	chr19	8190851	8190851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagacccagcagtgttgaCgcaacgcccgttgggacaga	13	11	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:8190851C>T	uc002mjf.2	-	21	2677	c.2656G>A	c.(2656-2658)GTC>ATC	p.V886I		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	886	EGF-like 11; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GCAGTGTTGACGCAACGCCCG	0.637													T	8190851	C	T	8190851	3	4	20	1	0	0	0	0	1	0	0	0	5704	536	19	1	5945	1	FBN3	19	8190851	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	203920	8190851	50938132	1749	19420											
LASS4	79603	broad.mit.edu	37	chr19	8321559	8321559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgggtttctacctctcaCtgctaatcaggctgcccttt	8	13	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:8321559C>T	uc002mjg.2	+	8	897	c.577C>T	c.(577-579)CTG>TTG	p.L193L	LASS4_uc002mjh.2_Silent_p.L142L|LASS4_uc002mji.2_Silent_p.L29L|LASS4_uc010dvz.2_Silent_p.L193L	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN	LAG1 homolog, ceramide synthase 4	193	TLC.|Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			ovary(1)	1						CTACCTCTCACTGCTAATCAG	0.572													T	8321559	C	T	8321559	2	4	20	1	0	0	0	0	0	0	0	1	8641	564	20	4		4	LASS4	19	8321559	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	130708	8321559	50807424	1750	19421											
MYO1F	4542	broad.mit.edu	37	chr19	8613002	8613002	+	Frame_Shift_Del	DEL	T	T	-													tgcaaaactgctcgaagccaTttttctgcagaaggaggaaa							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:8613001_8613001AT>A	uc002mkg.3	-	11	1326	c.1188_1188AT>T	c.(1186-1188)aatfs	p.N396fs		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	396	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GCTCGAAGCCATTTTTCTGCA	0.547													-	8613002	T	-	8613002	7	5	20	1	0	1	0	1	0	0	0	0	10073	1493	52	0	2177	0	MYO1F	19	8613002	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	291443	8613002	50515981	1751	19422											
ACTL9	284382	broad.mit.edu	37	chr19	8808899	8808899	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccatgtcaataaccacCacgccggtctttggtggcag	11	13	2	0	rs138094625	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:8808899C>T	uc002mkl.2	-	1	274	c.153G>A	c.(151-153)GTG>GTA	p.V51V		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	51						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						CAATAACCACCACGCCGGTCT	0.652													T	8808899	C	T	8808899	2	4	20	1	0	0	0	0	0	0	0	1	203	581	21	4		4	ACTL9	19	8808899	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	195897	8808899	50320084	1752	19423											
MUC16	94025	broad.mit.edu	37	chr19	9046249	9046249	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgtggtctctgatacTtgaggaaacacagttgaagc	13	7	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:9046249T>G	uc002mkp.2	-	5	35586	c.35382A>C	c.(35380-35382)CAA>CAC	p.Q11794H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11796	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCTCTGATACTTGAGGAAACA	0.478													G	9046249	T	G	9046249	3	3	20	1	0	0	0	0	1	0	0	0	9973	1606	56	5	8461	5	MUC16	19	9046249	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	237350	9046249	50082734	1753	19424											
MUC16	94025	broad.mit.edu	37	chr19	9049228	9049228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagttgtacttgtctttgcCgccaaactggtgaccattga	9	9	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:9049228C>T	uc002mkp.2	-	5	32607	c.32403G>A	c.(32401-32403)GCG>GCA	p.A10801A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10803	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTGTCTTTGCCGCCAAACTGG	0.507													T	9049228	C	T	9049228	2	4	20	1	0	0	0	0	0	0	0	1	9973	639	23	1		1	MUC16	19	9049228	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2979	9049228	50079755	1754	19425											
OR7D4	125958	broad.mit.edu	37	chr19	9324694	9324694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggcgtacatcactgaggCggtggagctgctctgggaag	16	9	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:9324694C>T	uc002mla.1	-	1	820	c.820G>A	c.(820-822)GCC>ACC	p.A274T		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D,	274	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						ATCACTGAGGCGGTGGAGCTG	0.552													T	9324694	C	T	9324694	3	4	20	1	0	0	0	0	1	0	0	0	11220	768	27	1	122	1	OR7D4	19	9324694	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	275466	9324694	49804289	1755	19426											
ZNF559	84527	broad.mit.edu	37	chr19	9453697	9453697	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagaaaccatataaggaaTgtgggcaaacctttagtaat	10	5	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:9453697T>G	uc002mlg.2	+	7	2217	c.1570T>G	c.(1570-1572)TGT>GGT	p.C524G	ZNF559_uc002mlf.2_Missense_Mutation_p.C293G|ZNF559_uc010dwl.1_Missense_Mutation_p.C293G|ZNF559_uc010xkn.1_Missense_Mutation_p.C516G|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Missense_Mutation_p.C588G|ZNF559_uc010dwk.1_Missense_Mutation_p.C293G|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN	zinc finger protein 559	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATATAAGGAATGTGGGCAAAC	0.423													G	9453697	T	G	9453697	3	3	20	1	0	0	0	0	1	0	0	0	17987	1464	51	5	1584	5	ZNF559	19	9453697	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	129003	9453697	49675286	1756	19427											
DNMT1	1786	broad.mit.edu	37	chr19	10251513	10251513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaaacacatccagggtcCgcagcttgggcagcttgatc	11	12	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:10251513C>T	uc002mng.2	-	31	3599	c.3419G>A	c.(3418-3420)CGG>CAG	p.R1140Q	DNMT1_uc002mne.2_5'Flank|DNMT1_uc002mnf.2_Missense_Mutation_p.R64Q|DNMT1_uc010xlc.1_Missense_Mutation_p.R1156Q|DNMT1_uc002mnh.2_Missense_Mutation_p.R1035Q|DNMT1_uc010xld.1_Missense_Mutation_p.R1140Q	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	1140	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	ATCCAGGGTCCGCAGCTTGGG	0.617													T	10251513	C	T	10251513	3	4	20	1	0	0	0	0	1	0	0	0	4675	652	23	1	1471	1	DNMT1	19	10251513	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	797816	10251513	48877470	1757	19428											
DNMT1	1786	broad.mit.edu	37	chr19	10260184	10260184	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactttcactttgctgtggAtatatgaaagctgcatgtcc	9	8	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:10260184A>G	uc002mng.2	-	25	2663	c.2483T>C	c.(2482-2484)ATC>ACC	p.I828T	DNMT1_uc010xlc.1_Missense_Mutation_p.I844T|DNMT1_uc002mnh.2_Missense_Mutation_p.I723T|DNMT1_uc010xld.1_Missense_Mutation_p.I828T	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	828	BAH 1.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TTTGCTGTGGATATATGAAAG	0.567													G	10260184	A	G	10260184	3	3	20	1	0	0	0	0	1	0	0	0	4675	333	12	3	2431	3	DNMT1	19	10260184	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	8671	10260184	48868799	1758	19429											
CARM1	10498	broad.mit.edu	37	chr19	11032425	11032425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaccaacaccatgcactacGggagctaggggcccgccccg	12	17	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:11032425G>A	uc002mpz.2	+	16	1945	c.1819G>A	c.(1819-1821)GGG>AGG	p.G607R	CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Missense_Mutation_p.G367R	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	coactivator-associated arginine	607	Transactivation domain (By similarity).				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding				0						CATGCACTACGGGAGCTAGGG	0.542													A	11032425	G	A	11032425	3	1	20	1	0	0	0	0	1	0	0	0	2655	1116	39	1	1881	1	CARM1	19	11032425	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	772241	11032425	48096558	1759	19430											
RGL3	57139	broad.mit.edu	37	chr19	11526717	11526717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagcactccctggggccGcccagcccagaaaggttcgg	12	17	1	1	rs139040605		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:11526717G>A	uc002mrp.2	-	5	597	c.533C>T	c.(532-534)GCG>GTG	p.A178V	RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Missense_Mutation_p.A178V	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	178	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1						CCCTGGGGCCGCCCAGCCCAG	0.617													A	11526717	G	A	11526717	3	1	20	1	0	0	0	0	1	0	0	0	13278	1087	38	1	1677	1	RGL3	19	11526717	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	494292	11526717	47602266	1760	19431											
CCDC151	115948	broad.mit.edu	37	chr19	11534692	11534692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagcagcaggtgctcgcGgtgggtctgctcgtgggttg	18	9	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:11534692G>A	uc002mrs.2	-	8	1113	c.970C>T	c.(970-972)CGC>TGC	p.R324C	CCDC151_uc002mrr.2_Missense_Mutation_p.R259C|CCDC151_uc010dxz.2_Missense_Mutation_p.R264C	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	324	Potential.									ovary(1)	1						AGGTGCTCGCGGTGGGTCTGC	0.657													A	11534692	G	A	11534692	3	1	20	1	0	0	0	0	1	0	0	0	2786	1116	39	1	841	1	CCDC151	19	11534692	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	7975	11534692	47594291	1761	19432											
ZNF439	90594	broad.mit.edu	37	chr19	11979192	11979192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggactcacactggagagaaAccgtatcaatgtaaggaatg	11	7	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:11979192A>G	uc002mss.2	+	3	1436	c.1308A>G	c.(1306-1308)AAA>AAG	p.K436K	ZNF439_uc002msr.2_Silent_p.K300K	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						CTGGAGAGAAACCGTATCAAT	0.448													G	11979192	A	G	11979192	2	3	20	1	0	0	0	0	0	0	0	1	17908	40	2	3		3	ZNF439	19	11979192	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	444500	11979192	47149791	1762	19433											
ZNF799	90576	broad.mit.edu	37	chr19	12501516	12501517	+	Frame_Shift_Del	DEL	CA	CA	-													ggaatgagtgaaggctttacCacattgttgacactcatagg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:12501515_12501516CCA>C	uc010dyt.3	-	3	1900_1901	c.1696_1697TGG>G	c.(1696-1698)ggtfs	p.G566fs	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						GAAGGCTTTACCACATTGTTGA	0.406													-	12501517	CA	-	12501516	7	5	20	1	0	1	0	1	0	0	0	0	18163	594	21	0	239	0	ZNF799	19	12501516	Frame_Shift_Del	DEL	CA	TCGA-BR-4362-01A-01D-1158-08	522324	12501516	46627467	1763	19434											
ZNF709	163051	broad.mit.edu	37	chr19	12575998	12575998	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatagggtttctctccagaGtgagttctttcatgatttcg	9	8	4	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:12575998G>T	uc002mtv.3	-	4	899	c.738C>A	c.(736-738)CAC>CAA	p.H246Q	ZNF709_uc002mtw.3_Missense_Mutation_p.H214Q|ZNF709_uc002mtx.3_Missense_Mutation_p.H246Q	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	zinc finger protein 709 isoform a	246	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCTCTCCAGAGTGAGTTCTTT	0.393													T	12575998	G	T	12575998	3	4	20	1	0	0	0	0	1	0	0	0	18110	1020	36	5	1191	5	ZNF709	19	12575998	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	74482	12575998	46552985	1764	19435											
ZNF709	163051	broad.mit.edu	37	chr19	12639171	12639171	+	Frame_Shift_Del	DEL	T	T	-													tcaatgctctggtcttcccaTttttttcctaaaatatagtc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:12639170_12639170AT>A	uc002mty.3	-	2	349	c.139_139AT>T	c.(139-141)tggfs	p.W47fs	ZNF709_uc002mtx.4_Intron	NM_144976	NP_659413	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 564 (ZNF564), mRNA.	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TGGTCTTCCCATTTTTTTCCT	0.333													-	12639171	T	-	12639171	7	5	20	1	0	1	0	1	0	0	0	0	18110	1490	52	0		0	ZNF709	19	12639171	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	63173	12639171	46489812	1765	19436											
MAN2B1	4125	broad.mit.edu	37	chr19	12759984	12759985	+	Frame_Shift_Ins	INS	-	-	C													gccatctctcaggctgctgcINSccccctgggagcggtcagtc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:12759983_12759984G>GC	uc002mub.2	-	19	2478_2479	c.2402_2403C>GC	c.(2401-2403)ggcfs	p.G801fs	MAN2B1_uc010dyv.1_Frame_Shift_Ins_p.G800fs	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	801			G -> D (in AM; no residual enzyme activity).		protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCAGGCTGCTGCCCCCCTGGGA	0.619													C	12759985	-	C	12759984	7	5	20	1	0	1	1	0	0	0	0	0	9216	739	26	0	653	0	MAN2B1	19	12759984	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	120813	12759984	46368999	1766	19437											
ASNA1	439	broad.mit.edu	37	chr19	12848425	12848425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaacatcatcgagcagcgcAgcctgaagtggatcttcgtc	11	12	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:12848425A>G	uc002muv.2	+	1	120	c.106A>G	c.(106-108)AGC>GGC	p.S36G	C19orf43_uc002muu.2_5'Flank|ASNA1_uc002muw.2_Missense_Mutation_p.S36G	NM_004317	NP_004308	O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog	36					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			ovary(2)	2					Adenosine triphosphate(DB00171)	CGAGCAGCGCAGCCTGAAGTG	0.632													G	12848425	A	G	12848425	3	3	20	1	0	0	0	0	1	0	0	0	1047	188	7	3	108	3	ASNA1	19	12848425	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	88441	12848425	46280558	1767	19438											
MAST1	22983	broad.mit.edu	37	chr19	12962928	12962928	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccactcctgccctgcctcaGgaattcaaccccgaggagtt	8	17	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:12962928G>T	uc002mvm.2	+	9	1005	c.877_splice	c.e9-1	p.E293_splice	MAST1_uc002mvk.2_Splice_Site_p.E289_splice	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase						cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CCCTGCCTCAGGAATTCAACC	0.647													T	12962928	G	T	12962928	5	4	20	1	0	0	0	0	0	0	1	0	9324	1014	35	5	910	5	MAST1	19	12962928	Splice_Site	SNP	G	TCGA-BR-4362-01A-01D-1158-08	114503	12962928	46166055	1768	19439											
MAST1	22983	broad.mit.edu	37	chr19	12977542	12977542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggagcccgtggaaatccGccagttctcttcctgctctc	11	14	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:12977542G>A	uc002mvm.2	+	18	2233	c.2105G>A	c.(2104-2106)CGC>CAC	p.R702H		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	702	AGC-kinase C-terminal.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						GTGGAAATCCGCCAGTTCTCT	0.622													A	12977542	G	A	12977542	3	1	20	1	0	0	0	0	1	0	0	0	9324	1087	38	1	2175	1	MAST1	19	12977542	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	14614	12977542	46151441	1769	19440											
MAST1	22983	broad.mit.edu	37	chr19	12984600	12984600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctatcgccgctggcacacaCgccgtcccccacgcaggcgt	10	19	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:12984600C>T	uc002mvm.2	+	26	3757	c.3629C>T	c.(3628-3630)ACG>ATG	p.T1210M		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1210					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CTGGCACACACGCCGTCCCCC	0.677													T	12984600	C	T	12984600	3	4	20	1	0	0	0	0	1	0	0	0	9324	536	19	1	3731	1	MAST1	19	12984600	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	7058	12984600	46144383	1770	19441											
MAST1	22983	broad.mit.edu	37	chr19	12985060	12985060	+	Frame_Shift_Del	DEL	G	G	-													agcaaggagaaggaatccccGgggggcgccgaggcgtgcac							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:12985060delG	uc002mvm.2	+	26	4217	c.4089delG	c.(4087-4089)CCGfs	p.P1363fs		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1363					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						AGGAATCCCCGGGGGGCGCCG	0.736													-	12985060	G	-	12985060	7	5	20	1	0	1	0	1	0	0	0	0	9324	1103	39	0	4191	0	MAST1	19	12985060	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	460	12985060	46143923	1771	19442											
GCDH	2639	broad.mit.edu	37	chr19	13006913	13006913	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcatccaacaagagctacAccctcaatgggaccaagacc	6	15	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:13006913A>G	uc002mvq.2	+	7	690	c.613A>G	c.(613-615)ACC>GCC	p.T205A	GCDH_uc010xms.1_Missense_Mutation_p.T172A|GCDH_uc002mvp.2_Missense_Mutation_p.T205A|GCDH_uc010xmt.1_Silent_p.T50T|GCDH_uc010xmu.1_Missense_Mutation_p.T161A	NM_000159	NP_000150	Q92947	GCDH_HUMAN	glutaryl-Coenzyme A dehydrogenase isoform a	205					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding				0						CAAGAGCTACACCCTCAATGG	0.602													G	13006913	A	G	13006913	3	3	20	1	0	0	0	0	1	0	0	0	6287	159	6	3	635	3	GCDH	19	13006913	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	21853	13006913	46122070	1772	19443											
C19orf57	79173	broad.mit.edu	37	chr19	14000134	14000134	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgaggcaggtggtctcgcTgccctgccagctctgaggtg	15	11	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:14000134T>C	uc002mxl.1	-	6	1594	c.1535A>G	c.(1534-1536)CAG>CGG	p.Q512R	C19orf57_uc002mxk.1_Missense_Mutation_p.Q394R|C19orf57_uc002mxm.1_Intron	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	512					multicellular organismal development		protein binding			ovary(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GTGGTCTCGCTGCCCTGCCAG	0.602													C	14000134	T	C	14000134	3	2	20	1	0	0	0	0	1	0	0	0	1939	1580	55	3	390	3	C19orf57	19	14000134	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	993221	14000134	45128849	1773	19444											
LPHN1	22859	broad.mit.edu	37	chr19	14269309	14269309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttcactgtggcattctcCgtggacaggaagaggcccag	13	11	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:14269309C>T	uc010xnn.1	-	13	2516	c.2220G>A	c.(2218-2220)ACG>ACA	p.T740T	LPHN1_uc010xno.1_Silent_p.T735T|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	740	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						TGGCATTCTCCGTGGACAGGA	0.587													T	14269309	C	T	14269309	2	4	20	1	0	0	0	0	0	0	0	1	8915	639	23	1		1	LPHN1	19	14269309	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	269175	14269309	44859674	1774	19445											
LPHN1	22859	broad.mit.edu	37	chr19	14271040	14271040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggaggagacgtcccccgCgtagatggagccccgggtgt	17	11	0	3	rs149895143	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:14271040C>T	uc010xnn.1	-	9	1995	c.1699G>A	c.(1699-1701)GCG>ACG	p.A567T	LPHN1_uc010xno.1_Missense_Mutation_p.A562T|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	567	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						ACGTCCCCCGCGTAGATGGAG	0.672													T	14271040	C	T	14271040	3	4	20	1	0	0	0	0	1	0	0	0	8915	768	27	1	2789	1	LPHN1	19	14271040	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1731	14271040	44857943	1775	19446											
SYDE1	85360	broad.mit.edu	37	chr19	15223187	15223187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcttctcctggaccacctgCgcctcgtctcctccttccat	6	20	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:15223187C>T	uc002nah.1	+	7	1640	c.1609C>T	c.(1609-1611)CGC>TGC	p.R537C	SYDE1_uc002nai.1_Missense_Mutation_p.R470C|SYDE1_uc002naj.1_Missense_Mutation_p.R194C	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1	537	Rho-GAP.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|pancreas(1)	2						GGACCACCTGCGCCTCGTCTC	0.622													T	15223187	C	T	15223187	3	4	20	1	0	0	0	0	1	0	0	0	15432	768	27	1	1635	1	SYDE1	19	15223187	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	952147	15223187	43905796	1776	19447											
NOTCH3	4854	broad.mit.edu	37	chr19	15302455	15302455	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacactcatccacgtcctcCgtgcagaactggcctgtggc	10	15	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:15302455C>T	uc002nan.2	-	6	892	c.816G>A	c.(814-816)ACG>ACA	p.T272T	NOTCH3_uc002nao.1_Silent_p.T272T	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	272	Extracellular (Potential).|EGF-like 6; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCACGTCCTCCGTGCAGAACT	0.652													T	15302455	C	T	15302455	2	4	20	1	0	0	0	0	0	0	0	1	10550	639	23	1		1	NOTCH3	19	15302455	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	79268	15302455	43826528	1777	19448											
WIZ	58525	broad.mit.edu	37	chr19	15558926	15558926	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcttaccagagatgccacCtctgccatccagaatgtctc	6	15	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:15558926C>A	uc002nbb.3	-	2	407	c.193G>T	c.(193-195)GGT>TGT	p.G65C	MIR1470_hsa-mir-1470|MI0007075_5'Flank	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						nucleus	zinc ion binding				0						GAGATGCCACCTCTGCCATCC	0.642													A	15558926	C	A	15558926	3	1	20	1	0	0	0	0	1	0	0	0	17372	681	24	5	2219	5	WIZ	19	15558926	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	256471	15558926	43570057	1778	19449											
CPAMD8	27151	broad.mit.edu	37	chr19	17014528	17014528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgctgctgtctgcagaAccttctggttggtcctgtgc	12	13	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:17014528A>G	uc002nfb.2	-	33	4564	c.4532T>C	c.(4531-4533)GTT>GCT	p.V1511A	CPAMD8_uc002nfd.1_5'Flank	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1464						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TGTCTGCAGAACCTTCTGGTT	0.587													G	17014528	A	G	17014528	3	3	20	1	0	0	0	0	1	0	0	0	3795	43	2	3	1306	3	CPAMD8	19	17014528	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1455602	17014528	42114455	1779	19450											
MAP1S	55201	broad.mit.edu	37	chr19	17836734	17836734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgggctcagctggcacccGctgtgcctggccttcagggg	15	14	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:17836734G>A	uc002nhe.1	+	5	550	c.541G>A	c.(541-543)GCT>ACT	p.A181T	MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Missense_Mutation_p.A181T|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Missense_Mutation_p.A155T	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	181	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						GCTGGCACCCGCTGTGCCTGG	0.682													A	17836734	G	A	17836734	3	1	20	1	0	0	0	0	1	0	0	0	9234	1087	38	1	559	1	MAP1S	19	17836734	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	822206	17836734	41292249	1780	19451											
SLC5A5	6528	broad.mit.edu	37	chr19	17983369	17983369	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgtgccgtcggaggccTatcgctatggcctcaagttc	14	12	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:17983369T>C	uc002nhr.3	+	1	588	c.241T>C	c.(241-243)TAT>CAT	p.Y81H		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium iodide	81	Extracellular (Potential).				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4						GTCGGAGGCCTATCGCTATGG	0.682													C	17983369	T	C	17983369	3	2	20	1	0	0	0	0	1	0	0	0	14668	1522	53	3	243	3	SLC5A5	19	17983369	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	146635	17983369	41145614	1781	19452											
NCAN	1463	broad.mit.edu	37	chr19	19337487	19337487	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccctgattttggaggagaAgcaggagtctcaacagaccc	11	10	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:19337487A>C	uc002nlz.2	+	7	1364	c.1265A>C	c.(1264-1266)AAG>ACG	p.K422T	NCAN_uc010ecc.1_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	422					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			TTGGAGGAGAAGCAGGAGTCT	0.622													C	19337487	A	C	19337487	3	2	20	1	0	0	0	0	1	0	0	0	10204	72	3	5	1287	5	NCAN	19	19337487	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1354118	19337487	39791496	1782	19453											
TM6SF2	53345	broad.mit.edu	37	chr19	19377330	19377331	+	Frame_Shift_Del	DEL	CA	CA	-													ctccagcaaacaccaaggccCagtctggaagccaggagcaa							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:19377329_19377330CCA>C	uc002nmd.1	-	8	943_944	c.893_894TGG>G	c.(892-894)tggfs	p.W298fs	HAPLN4_uc002nmc.3_5'UTR	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	Homo sapiens transmembrane 6 superfamily member 2 (TM6SF2), mRNA.	298						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			ACACCAAGGCCCAGTCTGGAAG	0.579													-	19377331	CA	-	19377330	7	5	20	1	0	1	0	1	0	0	0	0	15970	595	21	0	248	0	TM6SF2	19	19377330	Frame_Shift_Del	DEL	CA	TCGA-BR-4362-01A-01D-1158-08	39843	19377330	39751653	1783	19454											
ZNF431	170959	broad.mit.edu	37	chr19	21350433	21350433	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaagaaaaagagccctggAatatgaagagacatgagatg	12	5	0	5			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:21350433A>G	uc002npp.2	+	4	430	c.283A>G	c.(283-285)AAT>GAT	p.N95D	ZNF431_uc010ecq.2_5'UTR|ZNF431_uc010ecr.2_Missense_Mutation_p.N96D	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN	zinc finger protein 431	95	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2						AGAGCCCTGGAATATGAAGAG	0.388													G	21350433	A	G	21350433	3	3	20	1	0	0	0	0	1	0	0	0	17902	246	9	3	297	3	ZNF431	19	21350433	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1973103	21350433	37778550	1784	19455											
ZNF100	163227	broad.mit.edu	37	chr19	21927746	21927746	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attaaagttattctcacccaAgaagaccaggtttctgtagt	7	8	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:21927746A>C	uc002nqi.2	-	3	419	c.220T>G	c.(220-222)TTG>GTG	p.L74V	ZNF100_uc002nqh.2_Missense_Mutation_p.L11V	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	74	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTCTCACCCAAGAAGACCAGG	0.383													C	21927746	A	C	21927746	3	2	20	1	0	0	0	0	1	0	0	0	17710	69	3	5	1420	5	ZNF100	19	21927746	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	577313	21927746	37201237	1785	19456											
ZNF43	7594	broad.mit.edu	37	chr19	21992387	21992387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttatgaaaggctttcacaCatttatcaaatagaaatatt	4	5	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:21992387C>T	uc002nqj.2	-	4	582	c.452G>A	c.(451-453)TGT>TAT	p.C151Y	ZNF43_uc010ecv.2_Missense_Mutation_p.C145Y|ZNF43_uc002nql.2_Missense_Mutation_p.C145Y|ZNF43_uc002nqm.2_Missense_Mutation_p.C145Y|ZNF43_uc002nqk.2_Missense_Mutation_p.C81Y	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GGCTTTCACACATTTATCAAA	0.328													T	21992387	C	T	21992387	3	4	20	1	0	0	0	0	1	0	0	0	17900	478	17	4	1981	4	ZNF43	19	21992387	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	64641	21992387	37136596	1786	19457											
ZNF43	7594	broad.mit.edu	37	chr19	22002026	22002026	+	Splice_Site	DEL	A	A	-													cataaatgtcaatggtccctAaaaaaaacaacacatacaca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383													-	22002026	A	-	22002026	8	5	20	1	0	1	0	1	0	0	1	0	17900	377	13	0		0	ZNF43	19	22002026	Splice_Site	DEL	A	TCGA-BR-4362-01A-01D-1158-08	9639	22002026	37126957	1787	19458											
TSHZ3	57616	broad.mit.edu	37	chr19	31769144	31769144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatttgaggatatcaagccCccccttgggactctcttcta	9	12	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:31769144C>T	uc002nsy.3	-	2	1620	c.1555G>A	c.(1555-1557)GGG>AGG	p.G519R		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	519					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					ATATCAAGCCCCCCCTTGGGA	0.488													T	31769144	C	T	31769144	3	4	20	1	0	0	0	0	1	0	0	0	16622	623	22	4	1694	4	TSHZ3	19	31769144	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	9767118	31769144	27359839	1788	19459											
ZNF507	22847	broad.mit.edu	37	chr19	32873756	32873756	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagtgaagttctgggtAccaacgagaatgagaaactg	11	9	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:32873756A>G	uc002nte.2	+	7	2901	c.2629A>G	c.(2629-2631)ACC>GCC	p.T877A	ZNF507_uc002ntd.2_Missense_Mutation_p.T877A	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	877					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(110;0.162)					AGTTCTGGGTACCAACGAGAA	0.453													G	32873756	A	G	32873756	3	3	20	1	0	0	0	0	1	0	0	0	17950	391	14	3	2647	3	ZNF507	19	32873756	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1104612	32873756	26255227	1789	19460											
ZNF302	55900	broad.mit.edu	37	chr19	35173767	35173767	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagggacttatacaaggatgTgatggtccagaattatgaga	13	4	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:35173767T>C	uc002nvr.1	+	4	490	c.227T>C	c.(226-228)GTG>GCG	p.V76A	ZNF302_uc010xrz.1_Missense_Mutation_p.V32A|ZNF302_uc002nvp.1_Missense_Mutation_p.V32A|ZNF302_uc002nvq.1_Missense_Mutation_p.V32A|ZNF302_uc002nvs.1_Missense_Mutation_p.V32A	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	zinc finger protein 302	Error:Variant_position_missing_in_Q9NR11_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TACAAGGATGTGATGGTCCAG	0.448													C	35173767	T	C	35173767	3	2	20	1	0	0	0	0	1	0	0	0	17829	1696	59	3	101	3	ZNF302	19	35173767	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2300011	35173767	23955216	1790	19461											
GRAMD1A	57655	broad.mit.edu	37	chr19	35501006	35501006	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctctcagattactcctgCgccctgcagcgtgagatcct	8	17	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:35501006C>T	uc010xse.1	+	5	473	c.336C>T	c.(334-336)TGC>TGT	p.C112C	GRAMD1A_uc002nxi.1_Silent_p.C199C|GRAMD1A_uc002nxk.2_Silent_p.C105C|GRAMD1A_uc002nxl.2_5'UTR|GRAMD1A_uc010xsf.1_Silent_p.C117C	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	112	GRAM.					integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ATTACTCCTGCGCCCTGCAGC	0.647													T	35501006	C	T	35501006	2	4	20	1	0	0	0	0	0	0	0	1	6747	776	27	1		1	GRAMD1A	19	35501006	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	327239	35501006	23627977	1791	19462											
ARHGAP33	115703	broad.mit.edu	37	chr19	36273690	36273690	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagtacctgctgaggcaccTggcccgcatggcgagacaca	14	13	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:36273690T>C	uc002obr.1	+	15	1425	c.1340T>C	c.(1339-1341)CTG>CCG	p.L447P	ARHGAP33_uc002obs.1_Missense_Mutation_p.L447P|ARHGAP33_uc002obt.1_Missense_Mutation_p.L311P|ARHGAP33_uc010eel.2_Missense_Mutation_p.L35P|ARHGAP33_uc002obv.1_Missense_Mutation_p.L35P	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	447	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						CTGAGGCACCTGGCCCGCATG	0.662													C	36273690	T	C	36273690	3	2	20	1	0	0	0	0	1	0	0	0	882	1580	55	3	1398	3	ARHGAP33	19	36273690	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	772684	36273690	22855293	1792	19463											
ALKBH6	84964	broad.mit.edu	37	chr19	36501501	36501501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatcgtcctctggccgccGcggctcgtagaagtccagca	12	15	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:36501501G>A	uc002oct.2	-	6	521	c.421C>T	c.(421-423)CGG>TGG	p.R141W	C19orf46_uc002ocr.1_5'Flank|C19orf46_uc002ocs.1_5'Flank|C19orf46_uc002ocq.1_5'Flank|C19orf46_uc010een.1_5'Flank|ALKBH6_uc002ocv.1_Missense_Mutation_p.R169W|ALKBH6_uc002ocx.1_Missense_Mutation_p.R72W|ALKBH6_uc002ocw.1_Missense_Mutation_p.A156V|ALKBH6_uc010eeo.1_Missense_Mutation_p.R141W|ALKBH6_uc010eep.1_3'UTR	NM_032878	NP_116267	Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 isoform 2	141	Fe2OG dioxygenase.					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCTGGCCGCCGCGGCTCGTAG	0.632													A	36501501	G	A	36501501	3	1	20	1	0	0	0	0	1	0	0	0	531	1087	38	1	303	1	ALKBH6	19	36501501	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	227811	36501501	22627482	1793	19464											
ZNF790	388536	broad.mit.edu	37	chr19	37310989	37310989	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgccattttttggtaataacTtcttggtctgacacctcgac	7	10	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:37310989T>A	uc002oew.2	-	5	376	c.257A>T	c.(256-258)AAG>ATG	p.K86M	uc002oev.1_Intron	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	zinc finger protein 790	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGGTAATAACTTCTTGGTCTG	0.323													A	37310989	T	A	37310989	3	1	20	1	0	0	0	0	1	0	0	0	18159	1609	56	5	1657	5	ZNF790	19	37310989	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	809488	37310989	21817994	1794	19465											
ZNF527	84503	broad.mit.edu	37	chr19	37879314	37879314	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggctagcaagtcatggcctTgaatgctccagtttcagaga	11	9	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:37879314T>C	uc010efk.1	+	5	474	c.363T>C	c.(361-363)CTT>CTC	p.L121L	ZNF527_uc002ogf.3_Silent_p.L89L|ZNF527_uc010xtq.1_RNA	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	zinc finger protein 527	121	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTCATGGCCTTGAATGCTCCA	0.423													C	37879314	T	C	37879314	2	2	20	1	0	0	0	0	0	0	0	1	17965	1799	63	3		3	ZNF527	19	37879314	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	568325	37879314	21249669	1795	19466											
RYR1	6261	broad.mit.edu	37	chr19	39009883	39009883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccattgtgagccgtgcaCggccggagctcctgcagtcc	13	15	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:39009883C>T	uc002oit.2	+	67	10178	c.10048C>T	c.(10048-10050)CGG>TGG	p.R3350W	RYR1_uc002oiu.2_Missense_Mutation_p.R3350W|RYR1_uc002oiv.1_Missense_Mutation_p.R270W|RYR1_uc010xuf.1_Missense_Mutation_p.R270W	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3350					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGCCGTGCACGGCCGGAGCT	0.667													T	39009883	C	T	39009883	3	4	20	1	0	0	0	0	1	0	0	0	13768	527	19	1	10314	1	RYR1	19	39009883	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1130569	39009883	20119100	1796	19467											
RYR1	6261	broad.mit.edu	37	chr19	39038900	39038900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaacggcatgatcgcccGgcagatggtggacatgctcg	16	10	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:39038900G>A	uc002oit.2	+	89	12252	c.12122G>A	c.(12121-12123)CGG>CAG	p.R4041Q	RYR1_uc002oiu.2_Missense_Mutation_p.R4036Q|RYR1_uc002oiv.1_Missense_Mutation_p.R950Q	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4041					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ATGATCGCCCGGCAGATGGTG	0.567													A	39038900	G	A	39038900	3	1	20	1	0	0	0	0	1	0	0	0	13768	1116	39	1	12476	1	RYR1	19	39038900	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	29017	39038900	20090083	1797	19468											
LGALS4	3960	broad.mit.edu	37	chr19	39292738	39292738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacggtaccgttgcccatgCggggattaatgtgcagagct	13	11	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:39292738C>T	uc002ojg.2	-	9	933	c.719G>A	c.(718-720)CGC>CAC	p.R240H		NM_006149	NP_006140	P56470	LEG4_HUMAN	galectin-4	240	Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding			ovary(1)|skin(1)	2	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GTTGCCCATGCGGGGATTAAT	0.562													T	39292738	C	T	39292738	3	4	20	1	0	0	0	0	1	0	0	0	8745	768	27	1	260	1	LGALS4	19	39292738	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	253838	39292738	19836245	1798	19469											
PAPL	390928	broad.mit.edu	37	chr19	39600757	39600757	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccggaggatgtacctctAgggatggcggcagctctcct	15	11	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:39600757A>G	uc002oki.2	+	13	1590	c.1316A>G	c.(1315-1317)TAG>TGG	p.*439W	PAPL_uc010egl.2_3'UTR	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	iron/zinc purple acid phosphatase-like protein	439						extracellular region	acid phosphatase activity|metal ion binding				0						ATGTACCTCTAGGGATGGCGG	0.572											OREG0025457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	39600757	A	G	39600757	4	3	20	1	0	0	0	0	0	0	0	0	11427	433	15	3	1362	3	PAPL	19	39600757	Nonstop_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	308019	39600757	19528226	1799	19470											
SAMD4B	55095	broad.mit.edu	37	chr19	39870619	39870619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctaggctttcacggagaCgcagaagaaacggctgctat	11	9	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:39870619C>T	uc002olb.2	+	12	2579	c.1544C>T	c.(1543-1545)ACG>ATG	p.T515M	SAMD4B_uc002ola.2_Missense_Mutation_p.T515M	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	515							protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TTCACGGAGACGCAGAAGAAA	0.512													T	39870619	C	T	39870619	3	4	20	1	0	0	0	0	1	0	0	0	13822	536	19	1	1574	1	SAMD4B	19	39870619	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	269862	39870619	19258364	1800	19471											
SUPT5H	6829	broad.mit.edu	37	chr19	39949665	39949665	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaccagcgagaagaagaacTgggcgagtattacatgaaga	14	6	0	5			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:39949665T>C	uc002olo.3	+	7	589	c.410T>C	c.(409-411)CTG>CCG	p.L137P	SUPT5H_uc002olp.3_Missense_Mutation_p.L137P|SUPT5H_uc002olq.3_Missense_Mutation_p.L133P|SUPT5H_uc002oln.3_Missense_Mutation_p.L137P|SUPT5H_uc002olr.3_Missense_Mutation_p.L137P	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	137					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAAGAAGAACTGGGCGAGTAT	0.572													C	39949665	T	C	39949665	3	2	20	1	0	0	0	0	1	0	0	0	15396	1580	55	3	432	3	SUPT5H	19	39949665	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	79046	39949665	19179318	1801	19472											
SHKBP1	92799	broad.mit.edu	37	chr19	41086254	41086254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagtgaagcggcggaaccGgcacagcctagtggggcctc	15	14	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:41086254G>A	uc002oob.2	+	7	474	c.425G>A	c.(424-426)CGG>CAG	p.R142Q	SHKBP1_uc002ooc.2_Missense_Mutation_p.R142Q|SHKBP1_uc002ood.2_Missense_Mutation_p.R142Q|SHKBP1_uc010xvl.1_Missense_Mutation_p.R65Q|SHKBP1_uc002ooe.2_5'UTR|SHKBP1_uc002oof.2_5'UTR|SHKBP1_uc010xvm.1_5'UTR|SHKBP1_uc010xvn.1_Missense_Mutation_p.R20Q	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	142						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|pancreas(1)	2			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGGCGGAACCGGCACAGCCTA	0.572													A	41086254	G	A	41086254	3	1	20	1	0	0	0	0	1	0	0	0	14284	1116	39	1	451	1	SHKBP1	19	41086254	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1136589	41086254	18042729	1802	19473											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41808741	41808741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggtggcttccggggccGcgggggtggtggtggcttcc	22	9	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:41808741G>A	uc002oqb.3	+	12	2148	c.1859G>A	c.(1858-1860)CGC>CAC	p.R620H	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.R520H|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.R520H|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.R620H|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.R506H|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.R520H|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.R520H|HNRNPUL1_uc010eho.2_Missense_Mutation_p.R520H|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.R520H|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.R476H|HNRNPUL1_uc002oqf.3_Missense_Mutation_p.R144H	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	620	Necessary for transcription repression.|Necessary for interaction with TP53.|Gly-rich.|1-2.|5 X 3 AA repeats of R-G-G.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						TTCCGGGGCCGCGGGGGTGGT	0.667													A	41808741	G	A	41808741	3	1	20	1	0	0	0	0	1	0	0	0	7274	1087	38	1	1905	1	HNRNPUL1	19	41808741	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	722487	41808741	17320242	1803	19474											
B9D2	80776	broad.mit.edu	37	chr19	41860649	41860649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagttgcggagcagcaggcCgatctccaggtgcacggtgc	16	11	1	0	rs138230110		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:41860649C>T	uc002oqj.2	-	4	704	c.484G>A	c.(484-486)GGC>AGC	p.G162S	CYP2F1_uc010xvw.1_Intron|TGFB1_uc002oqh.1_5'Flank|TMEM91_uc002oqi.2_Intron	NM_030578	NP_085055	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	162					cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			ovary(1)	1						AGCAGCAGGCCGATCTCCAGG	0.642													T	41860649	C	T	41860649	3	4	20	1	0	0	0	0	1	0	0	0	1278	652	23	1	47	1	B9D2	19	41860649	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	51908	41860649	17268334	1804	19475											
MEGF8	1954	broad.mit.edu	37	chr19	42838298	42838298	+	Frame_Shift_Del	DEL	G	G	-													gtgtgcctgcgagccgggctGggggggtcctgactgtggcc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:42838297_42838297TG>T	uc002otl.4	+	2	1125	c.490_490TG>T	c.(490-492)tggfs	p.W164fs	MEGF8_uc002otm.4_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	164	EGF-like 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CGAGCCGGGCTGGGGGGGTCC	0.701													-	42838298	G	-	42838298	7	5	20	1	0	1	0	1	0	0	0	0	9463	1357	47	0	501	0	MEGF8	19	42838298	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	977649	42838298	16290685	1805	19476											
PSG4	5672	broad.mit.edu	37	chr19	43708390	43708390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtgggcggattccagaaGtttaaaagtgatgctaggag	15	4	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:43708390G>A	uc002ovy.2	-	2	180	c.78C>T	c.(76-78)AAC>AAT	p.N26N	PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Silent_p.N26N|PSG4_uc002ovz.2_Silent_p.N26N	NM_002780	NP_002771	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4 isoform	26					defense response|female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)				GATTCCAGAAGTTTAAAAGTG	0.468													A	43708390	G	A	43708390	2	1	20	1	0	0	0	0	0	0	0	1	12657	1020	36	4		4	PSG4	19	43708390	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	870092	43708390	15420593	1806	19477											
ZNF283	284349	broad.mit.edu	37	chr19	44352263	44352263	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagtgggtatcaacttactCgacatcaggtatttcacact	8	9	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:44352263C>T	uc002oxr.3	+	7	1778	c.1510C>T	c.(1510-1512)CGA>TGA	p.R504*	ZNF283_uc002oxp.3_Nonsense_Mutation_p.R365*	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	504	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TCAACTTACTCGACATCAGGT	0.403													T	44352263	C	T	44352263	4	4	20	1	0	0	0	0	0	1	0	0	17817	876	31	1	1524	1	ZNF283	19	44352263	Nonsense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	643873	44352263	14776720	1807	19478											
ZNF285	26974	broad.mit.edu	37	chr19	44891190	44891190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttgaactaaagcacttgCcacactcactgcatttgtag	7	11	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:44891190C>T	uc002ozd.3	-	4	1304	c.1217G>A	c.(1216-1218)GGC>GAC	p.G406D	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.G413D	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	406	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4						AAAGCACTTGCCACACTCACT	0.493													T	44891190	C	T	44891190	3	4	20	1	0	0	0	0	1	0	0	0	17819	739	26	2	559	2	ZNF285	19	44891190	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	538927	44891190	14237793	1808	19479											
ZNF229	7772	broad.mit.edu	37	chr19	44936458	44936458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcctgcatcacatcttgGtacagctgcctctgggtaga	9	12	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:44936458G>A	uc002oze.1	-	5	611	c.177C>T	c.(175-177)TAC>TAT	p.Y59Y	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Silent_p.Y59Y	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)				TCACATCTTGGTACAGCTGCC	0.488													A	44936458	G	A	44936458	2	1	20	1	0	0	0	0	0	0	0	1	17779	1256	44	4		4	ZNF229	19	44936458	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	45268	44936458	14192525	1809	19480											
NKPD1	284353	broad.mit.edu	37	chr19	45655788	45655788	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgctgctgctgctgcAgcaggcgcacggtgatgggc	16	13	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:45655788A>T	uc010xxi.1	-	4	1907	c.1907T>A	c.(1906-1908)CTG>CAG	p.L636Q		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CTGCTGCTGCAGCAGGCGCAC	0.697													T	45655788	A	T	45655788	3	4	20	1	0	0	0	0	1	0	0	0	10446	188	7	5	595	5	NKPD1	19	45655788	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	719330	45655788	13473195	1810	19481											
PPP1R13L	10848	broad.mit.edu	37	chr19	45898859	45898859	+	Frame_Shift_Del	DEL	G	G	-													cgggggtgctcgggtgaagaGgggggacccagggagcatgg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:45898859delG	uc002pbn.2	-	7	1266	c.1189delC	c.(1189-1191)CTCfs	p.L397fs	PPP1R13L_uc002pbm.2_5'Flank|PPP1R13L_uc002pbo.2_Frame_Shift_Del_p.L397fs|PPP1R13L_uc002pbp.2_Frame_Shift_Del_p.L397fs	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	397	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CGGGTGAAGAGGGGGGACCCA	0.453													-	45898859	G	-	45898859	7	5	20	1	0	1	0	1	0	0	0	0	12358	1000	35	0	1325	0	PPP1R13L	19	45898859	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	243071	45898859	13230124	1811	19482											
VASP	7408	broad.mit.edu	37	chr19	46020980	46020980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttatgatgatggcaacaagcGatggctccctgctggcacgg	13	10	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:46020980G>A	uc002pcg.2	+	2	407	c.65G>A	c.(64-66)CGA>CAA	p.R22Q	VASP_uc010eki.2_Missense_Mutation_p.D6N|VASP_uc002pci.2_Missense_Mutation_p.R9Q	NM_003370	NP_003361	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	22	WH1.				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding				0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		GGCAACAAGCGATGGCTCCCT	0.622													A	46020980	G	A	46020980	3	1	20	1	0	0	0	0	1	0	0	0	17125	1058	37	1	71	1	VASP	19	46020980	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	122121	46020980	13108003	1812	19483											
EML2	24139	broad.mit.edu	37	chr19	46117919	46117919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccattccatgttcctcacaGcatccgcactggtgatctgc	7	16	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:46117919G>A	uc002pcn.2	-	17	1672	c.1637C>T	c.(1636-1638)GCT>GTT	p.A546V	EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Missense_Mutation_p.A430V|EML2_uc010xxl.1_Missense_Mutation_p.A693V|EML2_uc010xxm.1_Missense_Mutation_p.A747V	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like	546					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GTTCCTCACAGCATCCGCACT	0.527													A	46117919	G	A	46117919	3	1	20	1	0	0	0	0	1	0	0	0	5097	971	34	2	324	2	EML2	19	46117919	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	96939	46117919	13011064	1813	19484											
EML2	24139	broad.mit.edu	37	chr19	46141865	46141865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgggcacagggcggcccCtcaggaacattttcacggag	13	12	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:46141865C>T	uc002pcn.2	-	3	112	c.77G>A	c.(76-78)AGG>AAG	p.R26K	EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Intron|EML2_uc010xxl.1_Missense_Mutation_p.R173K|EML2_uc010xxm.1_Missense_Mutation_p.R227K|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Missense_Mutation_p.R26K|EML2_uc010ekj.2_Missense_Mutation_p.R26K	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like	26					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGGGCGGCCCCTCAGGAACAT	0.612													T	46141865	C	T	46141865	3	4	20	1	0	0	0	0	1	0	0	0	5097	681	24	4	1940	4	EML2	19	46141865	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	23946	46141865	12987118	1814	19485											
NOVA2	4858	broad.mit.edu	37	chr19	46443323	46443324	+	Frame_Shift_Ins	INS	-	-	C													gtactccaccaacgtcttgcINScccccttccccaggatggct							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:46443322_46443323G>GC	uc002pdv.2	-	3	1325_1326	c.1277_1278C>GC	c.(1276-1278)ggcfs	p.G426fs		NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	Homo sapiens neuro-oncological ventral antigen 2 (NOVA2), mRNA.	426	KH 3.					nucleus	RNA binding	p.G425W(1)		endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		CCAACGTCTTGCCCCCCTTCCC	0.649													C	46443324	-	C	46443323	7	5	20	1	0	1	1	0	0	0	0	0	10555	739	26	0	205	0	NOVA2	19	46443323	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	301458	46443323	12685660	1815	19486											
PRKD2	25865	broad.mit.edu	37	chr19	47178330	47178330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatttgtccacgctgtagCgtttgcgcatcttcacctgc	10	12	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:47178330C>T	uc002pfh.2	-	18	2726	c.2384G>A	c.(2383-2385)CGC>CAC	p.R795H	PRKD2_uc002pfd.2_Missense_Mutation_p.R169H|PRKD2_uc010eks.2_Missense_Mutation_p.R198H|PRKD2_uc010ekt.2_Missense_Mutation_p.R62H|PRKD2_uc002pfe.2_Missense_Mutation_p.R325H|PRKD2_uc002pff.2_Missense_Mutation_p.R315H|PRKD2_uc002pfg.2_Missense_Mutation_p.R638H|PRKD2_uc002pfi.2_Missense_Mutation_p.R795H|PRKD2_uc002pfj.2_Missense_Mutation_p.R795H|PRKD2_uc010xye.1_Missense_Mutation_p.R805H|PRKD2_uc002pfk.2_Missense_Mutation_p.R638H	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	795	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CACGCTGTAGCGTTTGCGCAT	0.567													T	47178330	C	T	47178330	3	4	20	1	0	0	0	0	1	0	0	0	12519	768	27	1	260	1	PRKD2	19	47178330	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	735007	47178330	11950653	1816	19487											
STRN4	29888	broad.mit.edu	37	chr19	47231155	47231155	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggggtgcctcttaccttcAtgtggccggggctggggtgt	19	9	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:47231155A>G	uc002pfl.2	-	8	1182	c.1149T>C	c.(1147-1149)CAT>CAC	p.H383H	STRN4_uc002pfm.2_Silent_p.H383H|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	383						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TCTTACCTTCATGTGGCCGGG	0.657													G	47231155	A	G	47231155	2	3	20	1	0	0	0	0	0	0	0	1	15330	214	8	3		3	STRN4	19	47231155	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	52825	47231155	11897828	1817	19488											
STRN4	29888	broad.mit.edu	37	chr19	47242087	47242087	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcttgatccgccgcaccAggtccgtctttagattctcc	8	15	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:47242087A>G	uc002pfl.2	-	2	374	c.341T>C	c.(340-342)CTG>CCG	p.L114P	STRN4_uc002pfm.2_Missense_Mutation_p.L114P|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	114	Potential.					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CCGCCGCACCAGGTCCGTCTT	0.582													G	47242087	A	G	47242087	3	3	20	1	0	0	0	0	1	0	0	0	15330	188	7	3	2005	3	STRN4	19	47242087	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	10932	47242087	11886896	1818	19489											
CYTH2	9266	broad.mit.edu	37	chr19	48977543	48977543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctttgtggccatgaacCggggcatcaacgagggcggg	17	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:48977543C>T	uc002pjj.3	+	7	952	c.652C>T	c.(652-654)CGG>TGG	p.R218W	CYTH2_uc002pji.2_RNA	NM_017457	NP_059431	Q99418	CYH2_HUMAN	cytohesin 2 isoform 1	218					actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						GGCCATGAACCGGGGCATCAA	0.642													T	48977543	C	T	48977543	3	4	20	1	0	0	0	0	1	0	0	0	4204	643	23	1	678	1	CYTH2	19	48977543	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1735456	48977543	10151440	1819	19490											
MAMSTR	284358	broad.mit.edu	37	chr19	49218106	49218107	+	Frame_Shift_Ins	INS	-	-	G													ctgaagttccaacttgtgtgINSgggggggcgaggggctaggg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:49218105_49218106T>TG	uc002pkg.2	-	5	547_548	c.485_486A>CA	c.(484-486)ccafs	p.P162fs	MAMSTR_uc002pkf.2_Frame_Shift_Ins_p.P59fs	NM_001130915	NP_872380	Q6ZN01	MASTR_HUMAN	Homo sapiens MEF2 activating motif and SAP domain containing transcriptional regulator (MAMSTR), transcript variant 1, mRNA.	162	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						CCAACTTGTGTGGGGGGGGCGA	0.569													G	49218107	-	G	49218106	7	5	20	1	0	1	1	0	0	0	0	0	9209	1348	47	0	782	0	MAMSTR	19	49218106	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	240563	49218106	9910877	1820	19491											
NUCB1	4924	broad.mit.edu	37	chr19	49409126	49409126	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcaaggccaagatggaCgccgagcaggatcccagtga	13	12	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:49409126C>T	uc002plb.3	+	4	432	c.360C>T	c.(358-360)GAC>GAT	p.D120D	NUCB1_uc002pla.2_Silent_p.D120D|NUCB1_uc002plc.2_Silent_p.D120D	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	nucleobindin 1 precursor	120						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding				0		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		CCAAGATGGACGCCGAGCAGG	0.657													T	49409126	C	T	49409126	2	4	20	1	0	0	0	0	0	0	0	1	10718	535	19	1		1	NUCB1	19	49409126	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	191020	49409126	9719857	1821	19492											
SLC17A7	57030	broad.mit.edu	37	chr19	49933806	49933807	+	Frame_Shift_Ins	INS	-	-	G													ggacagggggtgggggcctgINSgggggctgaaatgtgctgtg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:49933805_49933806T>TG	uc002pnp.3	-	11	1825_1826	c.1653_1654A>CA	c.(1651-1656)cccaggfs	p.P551fs	SLC17A7_uc002pno.3_Frame_Shift_Ins_p.P213fs	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	551	Pro-rich.				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGTGGGGGCCTGGGGGGCTGAA	0.639													G	49933807	-	G	49933806	7	5	20	1	0	1	1	0	0	0	0	0	14422	1335	47	0	33	0	SLC17A7	19	49933806	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	524680	49933806	9195177	1822	19493											
RPS11	6205	broad.mit.edu	37	chr19	50001234	50001234	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgagactatctgcactAcatccgcaagtacaaccgct	7	16	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:50001234A>G	uc002pob.1	+	4	364	c.284A>G	c.(283-285)TAC>TGC	p.Y95C		NM_001015	NP_001006	P62280	RS11_HUMAN	ribosomal protein S11	95					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome				0		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		TATCTGCACTACATCCGCAAG	0.572													G	50001234	A	G	50001234	3	3	20	1	0	0	0	0	1	0	0	0	13621	391	14	3	298	3	RPS11	19	50001234	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	67428	50001234	9127749	1823	19494											
TSKS	60385	broad.mit.edu	37	chr19	50266380	50266380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcgggatccccttggccCggctggtcaccctccgggga	13	16	2	0	rs146466500		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:50266380C>T	uc002ppm.2	-	1	136	c.125G>A	c.(124-126)CGG>CAG	p.R42Q		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	42							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCTTGGCCCGGCTGGTCAC	0.617													T	50266380	C	T	50266380	3	4	20	1	0	0	0	0	1	0	0	0	16623	652	23	1	1697	1	TSKS	19	50266380	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	265146	50266380	8862603	1824	19495											
AP2A1	160	broad.mit.edu	37	chr19	50304647	50304647	+	Splice_Site	DEL	C	C	-													acacccactcctgcacacagCcccccagtgcagttctccct							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:50304646_50304646GC>G	uc002ppn.3	+	13	1765	c.1554_splice	c.e13-1	p.S518_splice	AP2A1_uc010enj.1_Intron|AP2A1_uc002ppo.3_Splice_Site_p.S518_splice|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 1 subunit (AP2A1), transcript variant 1, mRNA.	518					Golgi to endosome transport|axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CCTGCACACAGCCCCCCAGTG	0.642													-	50304647	C	-	50304647	8	5	20	1	0	1	0	1	0	0	1	0	739	753	26	0	1604	0	AP2A1	19	50304647	Splice_Site	DEL	C	TCGA-BR-4362-01A-01D-1158-08	38267	50304647	8824336	1825	19496											
SIGLEC11	114132	broad.mit.edu	37	chr19	50455204	50455204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcagctgctgccctcttgcGagcttccttcctgcagatct	8	16	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:50455204G>A	uc010ybh.1	-	10	1865	c.1774C>T	c.(1774-1776)CGC>TGC	p.R592C	SIGLEC11_uc010ybi.1_Missense_Mutation_p.R496C	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11 isoform 1	592	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|central_nervous_system(2)|pancreas(1)	6		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GCCCTCTTGCGAGCTTCCTTC	0.642													A	50455204	G	A	50455204	3	1	20	1	0	0	0	0	1	0	0	0	14307	1058	37	1	330	1	SIGLEC11	19	50455204	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	150557	50455204	8673779	1826	19497											
C19orf41	126123	broad.mit.edu	37	chr19	50666247	50666247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccacaaacacgttcagcgCgtagtcccggaagaaaggcc	10	15	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:50666247C>T	uc002prp.1	-	1	292	c.205G>A	c.(205-207)GCG>ACG	p.A69T		NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN	hypothetical protein LOC126123 precursor	69	Extracellular (Potential).					integral to membrane					0		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)		ACGTTCAGCGCGTAGTCCCGG	0.682													T	50666247	C	T	50666247	3	4	20	1	0	0	0	0	1	0	0	0	1924	768	27	1	488	1	C19orf41	19	50666247	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	211043	50666247	8462736	1827	19498											
NAPSA	9476	broad.mit.edu	37	chr19	50862306	50862307	+	Frame_Shift_Ins	INS	-	-	C													gccgtgaggttaaaccagacINSccccccaagaaggaaggaga							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:50862305_50862306A>AC	uc002prx.3	-	7	1050_1051	c.997_998T>GT	c.(997-999)gtcfs	p.V333fs	NR1H2_uc002prv.4_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	Homo sapiens napsin A aspartic peptidase (NAPSA), mRNA.	333					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTTAAACCAGACCCCCCCAAGA	0.53													C	50862307	-	C	50862306	7	5	20	1	0	1	1	0	0	0	0	0	10166	507	18	0	273	0	NAPSA	19	50862306	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	196059	50862306	8266677	1828	19499											
KLK11	11012	broad.mit.edu	37	chr19	51525925	51525925	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatgccttgaagagactggTtacagaccagagggcccccg	12	11	0	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:51525925T>C	uc002pvd.1	-	6	837	c.725A>G	c.(724-726)AAC>AGC	p.N242S	KLK10_uc002puy.2_5'Flank|KLK10_uc002puz.2_5'Flank|KLK10_uc002pva.2_5'Flank|KLK11_uc002pvb.1_Missense_Mutation_p.N235S|KLK11_uc002pve.1_Missense_Mutation_p.N99S|KLK11_uc002pvf.1_Missense_Mutation_p.N210S|KLK11_uc002pvc.3_Missense_Mutation_p.N210S	NM_144947	NP_659196	Q9UBX7	KLK11_HUMAN	kallikrein 11 isoform 2 precursor	242	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		AAGAGACTGGTTACAGACCAG	0.572													C	51525925	T	C	51525925	3	2	20	1	0	0	0	0	1	0	0	0	8399	1725	60	3	127	3	KLK11	19	51525925	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	663619	51525925	7603058	1829	19500											
IGLON5	402665	broad.mit.edu	37	chr19	51830417	51830417	+	Frame_Shift_Del	DEL	C	C	-													gctgcgaagccatggcggttCcccccgcggatttccagtgg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:51830416_51830416TC>T	uc002pwc.2	+	5	729	c.729_729TC>T	c.(727-729)gttfs	p.V243fs		NM_001101372	NP_001094842	A6NGN9	IGLO5_HUMAN	Homo sapiens IgLON family member 5 (IGLON5), mRNA.	243	Ig-like C2-type 3.					extracellular region				large_intestine(5)|lung(6)|prostate(1)	12						CCATGGCGGTTCCCCCCGCGG	0.672													-	51830417	C	-	51830417	7	5	20	1	0	1	0	1	0	0	0	0	7595	855	30	0	752	0	IGLON5	19	51830417	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	304492	51830417	7298566	1830	19501											
ETFB	2109	broad.mit.edu	37	chr19	51848577	51848577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcacagagagcttggagGtcaggtccacacccaggtcc	12	12	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:51848577G>A	uc002pwh.2	-	6	748	c.656C>T	c.(655-657)ACC>ATC	p.T219I	ETFB_uc002pwg.2_Missense_Mutation_p.T310I	NM_001985	NP_001976	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	219					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		GAGCTTGGAGGTCAGGTCCAC	0.587													A	51848577	G	A	51848577	3	1	20	1	0	0	0	0	1	0	0	0	5270	1261	44	4	115	4	ETFB	19	51848577	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	18160	51848577	7280406	1831	19502											
ZNF480	147657	broad.mit.edu	37	chr19	52825530	52825530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttatactggagagaagcctTacaaatgtgatgaatgtggc	11	5	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:52825530T>C	uc010ydl.1	+	5	1097	c.1027T>C	c.(1027-1029)TAC>CAC	p.Y343H	ZNF480_uc002pyv.2_Missense_Mutation_p.Y266H|ZNF480_uc010ydm.1_Missense_Mutation_p.Y300H|ZNF480_uc010epn.2_Missense_Mutation_p.Y174H|uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	343	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		AGAGAAGCCTTACAAATGTGA	0.378													C	52825530	T	C	52825530	3	2	20	1	0	0	0	0	1	0	0	0	17932	1754	61	3	1041	3	ZNF480	19	52825530	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	976953	52825530	6303453	1832	19503											
ZNF468	90333	broad.mit.edu	37	chr19	53344411	53344411	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacatttgtaaggtttctctCcagtatgaagtctatgatgg	9	7	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:53344411C>A	uc002qaf.2	-	4	1287	c.1136G>T	c.(1135-1137)GGA>GTA	p.G379V	ZNF468_uc002qae.2_Missense_Mutation_p.G326V	NM_001008801	NP_001008801	Q5VIY5	ZN468_HUMAN	zinc finger protein ZNF468 isoform 2	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0358)		AGGTTTCTCTCCAGTATGAAG	0.388													A	53344411	C	A	53344411	3	1	20	1	0	0	0	0	1	0	0	0	17925	855	30	5	436	5	ZNF468	19	53344411	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	518881	53344411	5784572	1833	19504											
ZNF347	84671	broad.mit.edu	37	chr19	53644898	53644898	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaaggtttttctccactgtGggttgcctgatggatagcta	12	7	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:53644898G>T	uc002qbb.1	-	5	1252	c.1183C>A	c.(1183-1185)CAC>AAC	p.H395N	ZNF347_uc010eql.1_Missense_Mutation_p.H396N|ZNF347_uc002qbc.1_Missense_Mutation_p.H396N	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	395	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		TCTCCACTGTGGGTTGCCTGA	0.418													T	53644898	G	T	53644898	3	4	20	1	0	0	0	0	1	0	0	0	17858	1348	47	5	1340	5	ZNF347	19	53644898	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	300487	53644898	5484085	1834	19505											
ZNF677	342926	broad.mit.edu	37	chr19	53740463	53740463	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctctccagtatggattttcTtatgctgagtaagatttgaa	8	6	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:53740463T>A	uc002qbf.1	-	5	1702	c.1517A>T	c.(1516-1518)AAG>ATG	p.K506M	ZNF677_uc002qbg.1_Missense_Mutation_p.K506M	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	506	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)		ATGGATTTTCTTATGCTGAGT	0.388													A	53740463	T	A	53740463	3	1	20	1	0	0	0	0	1	0	0	0	18081	1609	56	5	241	5	ZNF677	19	53740463	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	95565	53740463	5388520	1835	19506											
ZNF761	388561	broad.mit.edu	37	chr19	53958901	53958901	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacttcatactggagagaaAccctacaaatgtaatgagtg	9	7	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:53958901A>G	uc010eqp.2	+	7	1598	c.1140A>G	c.(1138-1140)AAA>AAG	p.K380K	ZNF761_uc010ydy.1_Silent_p.K326K|ZNF761_uc002qbt.1_Silent_p.K326K	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		CTGGAGAGAAACCCTACAAAT	0.413													G	53958901	A	G	53958901	2	3	20	1	0	0	0	0	0	0	0	1	18133	40	2	3		3	ZNF761	19	53958901	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	218438	53958901	5170082	1836	19507											
ZNF813	126017	broad.mit.edu	37	chr19	53994944	53994944	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagccctcgtaattcatacGgcaattcatactggagagaa	8	10	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:53994944G>A	uc002qbu.2	+	4	1586	c.1458G>A	c.(1456-1458)ACG>ACA	p.T486T	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	486	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TAATTCATACGGCAATTCATA	0.403													A	53994944	G	A	53994944	2	1	20	1	0	0	0	0	0	0	0	1	18172	1103	39	1		1	ZNF813	19	53994944	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	36043	53994944	5134039	1837	19508											
NLRP12	91662	broad.mit.edu	37	chr19	54297342	54297342	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaggttttgttactcgaagCgctgccaacctactgtgggt	11	9	0	0	rs148506660		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:54297342C>T	uc002qch.3	-	10	3367	c.3147G>A	c.(3145-3147)GCG>GCA	p.A1049A	NLRP12_uc010eqw.2_Silent_p.A275A|NLRP12_uc002qci.3_Silent_p.A992A|NLRP12_uc002qcj.3_Silent_p.A1050A|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_3'UTR	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	1049	LRR 8.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTACTCGAAGCGCTGCCAACC	0.463													T	54297342	C	T	54297342	2	4	20	1	0	0	0	0	0	0	0	1	10474	755	27	1		1	NLRP12	19	54297342	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	302398	54297342	4831641	1838	19509											
PRKCG	5582	broad.mit.edu	37	chr19	54406340	54406340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctagatcattgcctaccAgccctatgggaagtctgtcg	9	14	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:54406340A>G	uc002qcq.1	+	15	1871	c.1589A>G	c.(1588-1590)CAG>CGG	p.Q530R	PRKCG_uc010yeg.1_Missense_Mutation_p.Q530R|PRKCG_uc010yeh.1_Missense_Mutation_p.Q417R	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	530	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ATTGCCTACCAGCCCTATGGG	0.562													G	54406340	A	G	54406340	3	3	20	1	0	0	0	0	1	0	0	0	12512	188	7	3	1647	3	PRKCG	19	54406340	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	108998	54406340	4722643	1839	19510											
CACNG7	59284	broad.mit.edu	37	chr19	54416138	54416138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagcagcgtgtttggtgCgtgtggcctgctcctggtag	17	9	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:54416138C>T	uc002qcr.1	+	1	68	c.53C>T	c.(52-54)GCG>GTG	p.A18V	CACNG7_uc010era.1_Missense_Mutation_p.A18V	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	18	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GTGTTTGGTGCGTGTGGCCTG	0.632													T	54416138	C	T	54416138	3	4	20	1	0	0	0	0	1	0	0	0	2562	768	27	1	55	1	CACNG7	19	54416138	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	9798	54416138	4712845	1840	19511											
PRPF31	26121	broad.mit.edu	37	chr19	54626916	54626916	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccatcatggtcgtcagCgtcaccgcctccaccaccca	7	20	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:54626916C>T	uc002qdh.2	+	6	900	c.504C>T	c.(502-504)AGC>AGT	p.S168S	PRPF31_uc010yek.1_Silent_p.S168S	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31 homolog	168					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			ovary(1)	1	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGGTCGTCAGCGTCACCGCCT	0.597													T	54626916	C	T	54626916	2	4	20	1	0	0	0	0	0	0	0	1	12566	767	27	1		1	PRPF31	19	54626916	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	210778	54626916	4502067	1841	19512											
CNOT3	4849	broad.mit.edu	37	chr19	54647433	54647433	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagacatgggtagcgtccaAcgagatcaaggacaagaggc	13	9	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:54647433A>G	uc002qdj.1	+	5	517	c.206A>G	c.(205-207)AAC>AGC	p.N69S	CNOT3_uc010yel.1_Missense_Mutation_p.N69S|CNOT3_uc002qdi.2_5'UTR|CNOT3_uc002qdk.1_Missense_Mutation_p.N69S|CNOT3_uc010ere.1_RNA	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	69					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTAGCGTCCAACGAGATCAAG	0.443													G	54647433	A	G	54647433	3	3	20	1	0	0	0	0	1	0	0	0	3620	43	2	3	220	3	CNOT3	19	54647433	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	20517	54647433	4481550	1842	19513											
CNOT3	4849	broad.mit.edu	37	chr19	54649502	54649502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgactcatcccaggaccccGacttcgaggagaacgagttt	10	12	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:54649502G>A	uc002qdj.1	+	8	963	c.652G>A	c.(652-654)GAC>AAC	p.D218N	CNOT3_uc010yel.1_Missense_Mutation_p.D218N|CNOT3_uc002qdi.2_Missense_Mutation_p.D131N|CNOT3_uc002qdk.1_Missense_Mutation_p.D218N|CNOT3_uc010ere.1_RNA	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	218					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCAGGACCCCGACTTCGAGGA	0.567													A	54649502	G	A	54649502	3	1	20	1	0	0	0	0	1	0	0	0	3620	1058	37	1	678	1	CNOT3	19	54649502	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2069	54649502	4479481	1843	19514											
LENG8	114823	broad.mit.edu	37	chr19	54967522	54967522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgactcccactcagactcCgacagctcctactcagggaa	8	15	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:54967522C>T	uc002qfv.1	+	9	1356	c.1212C>T	c.(1210-1212)TCC>TCT	p.S404S	LENG8_uc002qfw.2_Silent_p.S441S			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	404	Ser-rich.						protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		ACTCAGACTCCGACAGCTCCT	0.662													T	54967522	C	T	54967522	2	4	20	1	0	0	0	0	0	0	0	1	8724	639	23	1		1	LENG8	19	54967522	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	318020	54967522	4161461	1844	19515											
KIR2DL3	3804	broad.mit.edu	37	chr19	55263953	55263953	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcatcgtgtacacggaactTccaaatgctgagccctgatc	8	12	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:55263953T>C	uc002qgv.2	+	8	1026	c.1008T>C	c.(1006-1008)CTT>CTC	p.L336L	KIR2DS4_uc010yfj.1_5'Flank|KIR2DL3_uc002qgx.2_Silent_p.L336L|KIR2DL3_uc002qgy.2_Silent_p.L238L|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_5'Flank	NM_015868	NP_056952	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two	336	Cytoplasmic (Potential).				immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(193;0.0192)		ACACGGAACTTCCAAATGCTG	0.507													C	55263953	T	C	55263953	2	2	20	1	0	0	0	0	0	0	0	1	8317	1770	62	3		3	KIR2DL3	19	55263953	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	296431	55263953	3865030	1845	19516											
SYT5	6861	broad.mit.edu	37	chr19	55687082	55687082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaggagctcaccttgaAggcgaaggtctccccaaagt	12	11	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:55687082A>G	uc002qjm.1	-	4	1595	c.535T>C	c.(535-537)TTC>CTC	p.F179L	SYT5_uc002qjp.2_Missense_Mutation_p.F176L|SYT5_uc002qjn.1_Missense_Mutation_p.F179L|SYT5_uc002qjo.1_Missense_Mutation_p.F179L	NM_003180	NP_003171	O00445	SYT5_HUMAN	synaptotagmin V	179	Cytoplasmic (Potential).|C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTCACCTTGAAGGCGAAGGTC	0.627													G	55687082	A	G	55687082	3	3	20	1	0	0	0	0	1	0	0	0	15474	72	3	3	645	3	SYT5	19	55687082	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	423129	55687082	3441901	1846	19517											
TMEM150B	284417	broad.mit.edu	37	chr19	55828178	55828178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaatgaggatggtgcagaCgctgcagaggcccaggcgga	16	10	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:55828178C>T	uc010esw.1	-	7	654	c.481G>A	c.(481-483)GTC>ATC	p.V161I	TMEM150B_uc010yfu.1_Missense_Mutation_p.V161I|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	transmembrane protein 150B precursor	161	Helical; (Potential).					integral to membrane					0						ATGGTGCAGACGCTGCAGAGG	0.622													T	55828178	C	T	55828178	3	4	20	1	0	0	0	0	1	0	0	0	16065	536	19	1	228	1	TMEM150B	19	55828178	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	141096	55828178	3300805	1847	19518											
NLRP11	204801	broad.mit.edu	37	chr19	56321607	56321607	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaacacatctgacgaaacGtcacgaaaaaatttataatg	6	7	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:56321607G>A	uc010ygf.1	-	5	1080	c.369C>T	c.(367-369)GAC>GAT	p.D123D	NLRP11_uc002qlz.2_Silent_p.D24D|NLRP11_uc002qmb.2_Silent_p.D24D|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	123							ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTGACGAAACGTCACGAAAAA	0.383													A	56321607	G	A	56321607	2	1	20	1	0	0	0	0	0	0	0	1	10473	1136	40	1		1	NLRP11	19	56321607	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	493429	56321607	2807376	1848	19519											
NLRP4	147945	broad.mit.edu	37	chr19	56369846	56369846	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaaggaaaagacctggccCtgacctgccagagcactacc	10	13	0	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:56369846C>A	uc002qmd.3	+	3	1509	c.1087C>A	c.(1087-1089)CTG>ATG	p.L363M	NLRP4_uc002qmf.2_Missense_Mutation_p.L288M|NLRP4_uc010etf.2_Missense_Mutation_p.L194M	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	363	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGACCTGGCCCTGACCTGCCA	0.537													A	56369846	C	A	56369846	3	1	20	1	0	0	0	0	1	0	0	0	10479	680	24	5	1093	5	NLRP4	19	56369846	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	48239	56369846	2759137	1849	19520											
NLRP5	126206	broad.mit.edu	37	chr19	56515446	56515446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaccctctcggagaaggcaCgggatgacatgaaaagtaag	13	8	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:56515446C>T	uc002qmj.2	+	2	427	c.427C>T	c.(427-429)CGG>TGG	p.R143W	NLRP5_uc002qmi.2_Missense_Mutation_p.R143W	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	143	DAPIN.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGAGAAGGCACGGGATGACAT	0.512													T	56515446	C	T	56515446	3	4	20	1	0	0	0	0	1	0	0	0	10480	527	19	1	433	1	NLRP5	19	56515446	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	145600	56515446	2613537	1850	19521											
ZNF471	57573	broad.mit.edu	37	chr19	57036593	57036593	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgggaaagccttcagtgTtcacataggacttattctgc	10	8	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:57036593T>C	uc002qnh.2	+	5	1290	c.1157T>C	c.(1156-1158)GTT>GCT	p.V386A		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	386	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GCCTTCAGTGTTCACATAGGA	0.408													C	57036593	T	C	57036593	3	2	20	1	0	0	0	0	1	0	0	0	17927	1725	60	3	1171	3	ZNF471	19	57036593	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	521147	57036593	2092390	1851	19522											
ZNF71	58491	broad.mit.edu	37	chr19	57133348	57133348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacttcctctctcacccaGcacgagcggatccacacggg	9	16	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:57133348G>A	uc002qnm.3	+	3	931	c.693G>A	c.(691-693)CAG>CAA	p.Q231Q		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	231	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTCTCACCCAGCACGAGCGGA	0.637													A	57133348	G	A	57133348	2	1	20	1	0	0	0	0	0	0	0	1	18111	962	34	2		2	ZNF71	19	57133348	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	96755	57133348	1995635	1852	19523											
ZNF530	348327	broad.mit.edu	37	chr19	58117151	58117151	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actccaaaggcagatacatcCactgataagagtcacccctg	7	13	1	3	rs144915290		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:58117151C>A	uc002qpk.2	+	3	478	c.258C>A	c.(256-258)TCC>TCA	p.S86S	ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	86	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAGATACATCCACTGATAAGA	0.502													A	58117151	C	A	58117151	2	1	20	1	0	0	0	0	0	0	0	1	17968	581	21	5		5	ZNF530	19	58117151	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	983803	58117151	1011832	1853	19524											
ZNF551	90233	broad.mit.edu	37	chr19	58198191	58198191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgttgaattatttcacctGtggggaggccttcccagccc	11	11	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:58198191G>A	uc002qpw.3	+	3	723	c.500G>A	c.(499-501)TGT>TAT	p.C167Y	ZNF551_uc002qpv.3_Missense_Mutation_p.C110Y|ZNF776_uc002qpx.2_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	zinc finger protein 551	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TATTTCACCTGTGGGGAGGCC	0.512													A	58198191	G	A	58198191	3	1	20	1	0	0	0	0	1	0	0	0	17980	1377	48	4	510	4	ZNF551	19	58198191	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	81040	58198191	930792	1854	19525											
ZNF671	79891	broad.mit.edu	37	chr19	58232420	58232420	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctaaagaatttcccacatTcgctgcactcgtatggcctt	7	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:58232420T>C	uc002qpz.3	-	4	1133	c.1034A>G	c.(1033-1035)GAA>GGA	p.E345G	ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.E268G|ZNF671_uc010yhf.1_Missense_Mutation_p.E247G	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	345	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTTCCCACATTCGCTGCACTC	0.448													C	58232420	T	C	58232420	3	2	20	1	0	0	0	0	1	0	0	0	18075	1783	62	3	574	3	ZNF671	19	58232420	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	34229	58232420	896563	1855	19526											
ZNF587	84914	broad.mit.edu	37	chr19	58370966	58370966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtcaaaagggcaacctcGttcaccatcagcgaggtcat	10	11	4	0	rs140156678		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:58370966G>A	uc002qql.2	+	3	1324	c.1186G>A	c.(1186-1188)GTT>ATT	p.V396I	ZNF587_uc002qqb.2_Missense_Mutation_p.V353I|ZNF587_uc010yhh.1_Missense_Mutation_p.V353I|ZNF587_uc002qqi.1_Missense_Mutation_p.V353I|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Missense_Mutation_p.V395I	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	396	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GGGCAACCTCGTTCACCATCA	0.463													A	58370966	G	A	58370966	3	1	20	1	0	0	0	0	1	0	0	0	18017	1145	40	1	1196	1	ZNF587	19	58370966	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	138546	58370966	758017	1856	19527											
ZNF132	7691	broad.mit.edu	37	chr19	58945384	58945384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtgtgaactttctgatgtCgaaggagatgggagctttgg	15	5	1	3	rs140714420		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:58945384C>T	uc002qst.3	-	3	1828	c.1427G>A	c.(1426-1428)CGA>CAA	p.R476Q		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	476	C2H2-type 10.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TTTCTGATGTCGAAGGAGATG	0.483													T	58945384	C	T	58945384	3	4	20	1	0	0	0	0	1	0	0	0	17719	884	31	1	697	1	ZNF132	19	58945384	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	574418	58945384	183599	1857	19528											
DEFB125	245938	broad.mit.edu	37	chr20	76676	76676	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accccaaaaatgttggaagaAtaatgtaggacattgcagaa	9	6	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:76676A>C	uc002wcw.2	+	2	89	c.89A>C	c.(88-90)AAT>ACT	p.N30T		NM_153325	NP_697020	Q8N687	DB125_HUMAN	defensin, beta 125 preproprotein	30					defense response to bacterium	extracellular region				ovary(1)|central_nervous_system(1)|skin(1)	3		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			TGTTGGAAGAATAATGTAGGA	0.323													C	76676	A	C	76676	3	2	20	1	0	0	0	0	1	0	0	0	4411	101	4	5	95	5	DEFB125	20	76676	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08		76676	62948844	1858	19529											
PDYN	5173	broad.mit.edu	37	chr20	1961052	1961052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactggcgccggagaaaacCgccatagcgcttctggttgt	13	11	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:1961052C>T	uc010gaj.2	-	3	924	c.682G>A	c.(682-684)GGT>AGT	p.G228S	uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.G228S|PDYN_uc010zpt.1_Missense_Mutation_p.G73S	NM_024411	NP_077722	P01213	PDYN_HUMAN	beta-neoendorphin-dynorphin preproprotein	228					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			upper_aerodigestive_tract(1)|ovary(1)	2						CGGAGAAAACCGCCATAGCGC	0.542													T	1961052	C	T	1961052	3	4	20	1	0	0	0	0	1	0	0	0	11699	652	23	1	86	1	PDYN	20	1961052	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1884376	1961052	61064468	1859	19530											
CPXM1	56265	broad.mit.edu	37	chr20	2775271	2775272	+	Frame_Shift_Ins	INS	-	-	A													tgtccctcaccactcctgcaINSatgcccatgcgcacctgtgt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:2775270_2775271C>CA	uc002wgu.3	-	12	1949_1950	c.1875_1876G>TG	c.(1873-1878)attgcafs	p.I625fs	CPXM1_uc010gas.3_Frame_Shift_Ins_p.I551fs	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	625					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACCACTCCTGCAATGCCCATGC	0.554													A	2775272	-	A	2775271	7	5	20	1	0	1	1	0	0	0	0	0	3837	126	5	0	337	0	CPXM1	20	2775271	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	814219	2775271	60250249	1860	19531											
PTPRA	5786	broad.mit.edu	37	chr20	3008359	3008359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggcctgtgcagggctacCggcagaaggactcctatatc	12	13	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:3008359C>T	uc010zqd.1	+	19	2142	c.1825C>T	c.(1825-1827)CGG>TGG	p.R609W	PTPRA_uc002whj.2_Missense_Mutation_p.R598W|PTPRA_uc002whk.2_Missense_Mutation_p.R589W|PTPRA_uc002whl.2_Missense_Mutation_p.R589W|PTPRA_uc002whm.2_Missense_Mutation_p.R365W|PTPRA_uc002whn.2_Missense_Mutation_p.R589W|PTPRA_uc002who.2_Missense_Mutation_p.R261W	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	598	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						GCAGGGCTACCGGCAGAAGGA	0.527													T	3008359	C	T	3008359	3	4	20	1	0	0	0	0	1	0	0	0	12795	643	23	1	1858	1	PTPRA	20	3008359	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	233088	3008359	60017161	1861	19532											
HSPA12B	116835	broad.mit.edu	37	chr20	3729932	3729932	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacgttcctggtggagtcaGgcgtaggagagctgtgggca	18	8	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:3729932G>T	uc002wjd.2	+	9	1007	c.904G>T	c.(904-906)GGC>TGC	p.G302C	HSPA12B_uc010zqi.1_Missense_Mutation_p.G301C|HSPA12B_uc002wje.2_Missense_Mutation_p.G215C|HSPA12B_uc010zqj.1_Missense_Mutation_p.G136C	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	302							ATP binding				0						GGTGGAGTCAGGCGTAGGAGA	0.622													T	3729932	G	T	3729932	3	4	20	1	0	0	0	0	1	0	0	0	7405	1000	35	5	934	5	HSPA12B	20	3729932	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	721573	3729932	59295588	1862	19533											
TASP1	55617	broad.mit.edu	37	chr20	13610646	13610646	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctttgtttccaactctttgGctgttattttaccagccgaa	7	10	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:13610646G>T	uc002woi.2	-	2	197	c.80C>A	c.(79-81)GCC>GAC	p.A27D	TASP1_uc010zri.1_RNA|TASP1_uc002woh.2_Missense_Mutation_p.A27D|TASP1_uc010zrj.1_RNA|TASP1_uc010zrk.1_Missense_Mutation_p.A27D	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	taspase 1 precursor	27					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity				0						CAACTCTTTGGCTGTTATTTT	0.458													T	13610646	G	T	13610646	3	4	20	1	0	0	0	0	1	0	0	0	15586	1203	42	5	1234	5	TASP1	20	13610646	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	9880714	13610646	49414874	1863	19534											
C20orf26	26074	broad.mit.edu	37	chr20	20177224	20177224	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgtaggacattgagtAcatacggtcccattacaaca	7	10	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:20177224A>G	uc002wru.2	+	16	1677	c.1601A>G	c.(1600-1602)TAC>TGC	p.Y534C	C20orf26_uc010zse.1_Missense_Mutation_p.Y514C	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	534										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		GACATTGAGTACATACGGTCC	0.398													G	20177224	A	G	20177224	3	3	20	1	0	0	0	0	1	0	0	0	2106	391	14	3	1691	3	C20orf26	20	20177224	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	6566578	20177224	42848296	1864	19535											
CD93	22918	broad.mit.edu	37	chr20	23065849	23065849	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccttgggggcagcggcaCgtgtagtttttcccatgggg	15	10	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:23065849C>T	uc002wsv.2	-	1	1129	c.981G>A	c.(979-981)ACG>ACA	p.T327T		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	327	EGF-like 2.|Extracellular (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCAGCGGCACGTGTAGTTTT	0.622													T	23065849	C	T	23065849	2	4	20	1	0	0	0	0	0	0	0	1	3047	523	19	1		1	CD93	20	23065849	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2888625	23065849	39959671	1865	19536											
CD93	22918	broad.mit.edu	37	chr20	23065992	23065993	+	Frame_Shift_Ins	INS	-	-	C													ccgcagaggaaggagccatcINSccccccttcaaagcagtcct							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:23065991_23065992T>TC	uc002wsv.3	-	0	986_987	c.838_839A>GA	c.(838-840)gatfs	p.D280fs		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	280	EGF-like 1.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.D280N(2)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAAGGAGCCATCCCCCCCTTCA	0.629													C	23065993	-	C	23065992	7	5	20	1	0	1	1	0	0	0	0	0	3047	855	30	0	1128	0	CD93	20	23065992	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	143	23065992	39959528	1866	19537											
CD93	22918	broad.mit.edu	37	chr20	23066467	23066467	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagttagagtaaggcgtgtcCtcccccccgcccacccagct	9	18	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:23066467C>A	uc002wsv.2	-	1	511	c.363G>T	c.(361-363)GAG>GAT	p.E121D		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	121	Extracellular (Potential).|C-type lectin.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AAGGCGTGTCCTCCCCCCCGC	0.622													A	23066467	C	A	23066467	3	1	20	1	0	0	0	0	1	0	0	0	3047	680	24	5	1603	5	CD93	20	23066467	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	475	23066467	39959053	1867	19538											
CST11	140880	broad.mit.edu	37	chr20	23433327	23433327	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgtccttcgcatagtttTctactgccatcacttcatgg	7	12	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:23433327T>C	uc002wtf.1	-	1	156	c.122A>G	c.(121-123)GAA>GGA	p.E41G	CST11_uc002wtg.1_Missense_Mutation_p.E41G	NM_130794	NP_570612	Q9H112	CST11_HUMAN	cystatin 11 isoform 1 precursor	41					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CGCATAGTTTTCTACTGCCAT	0.483													C	23433327	T	C	23433327	3	2	20	1	0	0	0	0	1	0	0	0	3971	1783	62	3	306	3	CST11	20	23433327	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	366860	23433327	39592193	1868	19539											
ENTPD6	955	broad.mit.edu	37	chr20	25203547	25203547	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagtgcacaggacggaggaAgtgaagcatgtggacttcta	15	6	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:25203547A>G	uc002wuj.2	+	12	1299	c.1119A>G	c.(1117-1119)GAA>GAG	p.E373E	ENTPD6_uc010zsz.1_Silent_p.E155E|ENTPD6_uc002wum.2_Silent_p.E356E|ENTPD6_uc010zta.1_Silent_p.E373E|ENTPD6_uc002wun.2_Silent_p.E339E|ENTPD6_uc002wuk.2_Silent_p.E372E|ENTPD6_uc002wul.2_Silent_p.E372E|ENTPD6_uc010ztb.1_Silent_p.E345E|ENTPD6_uc010ztc.1_Silent_p.E345E|ENTPD6_uc002wuo.2_Silent_p.E125E|ENTPD6_uc010ztd.1_Silent_p.E121E|ENTPD6_uc010gdk.1_RNA|ENTPD6_uc010gdl.1_RNA	NM_001247	NP_001238	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6	373	Lumenal (Potential).					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity				0						GGACGGAGGAAGTGAAGCATG	0.572													G	25203547	A	G	25203547	2	3	20	1	0	0	0	0	0	0	0	1	5143	69	3	3		3	ENTPD6	20	25203547	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1770220	25203547	37821973	1869	19540											
POFUT1	23509	broad.mit.edu	37	chr20	30818680	30818680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcacttcatggcctctcCgcagtgtgtgggctacagcc	11	15	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:30818680C>T	uc002wxp.2	+	6	843	c.794C>T	c.(793-795)CCG>CTG	p.P265L	POFUT1_uc010ztt.1_Missense_Mutation_p.P157L|POFUT1_uc010ztu.1_Missense_Mutation_p.P54L	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1 isoform 1	265					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)	1			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATGGCCTCTCCGCAGTGTGTG	0.612													T	30818680	C	T	30818680	3	4	20	1	0	0	0	0	1	0	0	0	12183	652	23	1	863	1	POFUT1	20	30818680	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	5615133	30818680	32206840	1870	19541											
CBFA2T2	9139	broad.mit.edu	37	chr20	32232389	32232389	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccctcgacaagacctcGgcaaccacatcgcgttcctc	7	19	0	1	rs148637844		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:32232389G>A	uc002wzg.1	+	12	2289	c.1752G>A	c.(1750-1752)TCG>TCA	p.S584S	CBFA2T2_uc010zug.1_Silent_p.S358S|CBFA2T2_uc002wze.1_Silent_p.S575S|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.S555S|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA|CBFA2T2_uc002wzk.1_Silent_p.S132S	NM_005093	NP_005084	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit	584						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)|skin(1)	2						ACAAGACCTCGGCAACCACAT	0.662													A	32232389	G	A	32232389	2	1	20	1	0	0	0	0	0	0	0	1	2697	1103	39	1		1	CBFA2T2	20	32232389	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1413709	32232389	30793131	1871	19542											
C20orf4	25980	broad.mit.edu	37	chr20	34827741	34827741	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctggtttctttctttctcAgctgttcatcaaagaaaaag	6	9	6	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:34827741A>C	uc002xfc.1	+	2	46	c.-47_splice	c.e2-2		C20orf4_uc002xfd.1_Splice_Site|C20orf4_uc002xfe.1_Splice_Site	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	hypothetical protein LOC25980												0	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)				TTTCTTTCTCAGCTGTTCATC	0.363													C	34827741	A	C	34827741	5	2	20	1	0	0	0	0	0	0	1	0	2111	202	7	5		5	C20orf4	20	34827741	Splice_Site	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2595352	34827741	28197779	1872	19543											
CTNNBL1	56259	broad.mit.edu	37	chr20	36488350	36488350	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caatgacaccgaggaggagtTctacctccggcgcctggatg	13	12	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:36488350T>A	uc010zvw.1	+	15	1533	c.1442T>A	c.(1441-1443)TTC>TAC	p.F481Y	CTNNBL1_uc002xhh.2_Missense_Mutation_p.F294Y|CTNNBL1_uc002xhi.2_RNA|CTNNBL1_uc002xhj.2_Missense_Mutation_p.F229Y	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	beta catenin-like 1	481					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			ovary(2)	2		Myeloproliferative disorder(115;0.00878)				GAGGAGGAGTTCTACCTCCGG	0.532													A	36488350	T	A	36488350	3	1	20	1	0	0	0	0	1	0	0	0	4018	1783	62	5	1496	5	CTNNBL1	20	36488350	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1660609	36488350	26537170	1873	19544											
PLCG1	5335	broad.mit.edu	37	chr20	39788762	39788762	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtggctccggaagcagTtttactcagtggatcggaat	13	9	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:39788762T>C	uc002xjp.1	+	4	602	c.481T>C	c.(481-483)TTT>CTT	p.F161L	PLCG1_uc002xjo.1_Missense_Mutation_p.F161L	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	161	EF-hand.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				CCGGAAGCAGTTTTACTCAGT	0.572													C	39788762	T	C	39788762	3	2	20	1	0	0	0	0	1	0	0	0	12035	1725	60	3	495	3	PLCG1	20	39788762	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3300412	39788762	23236758	1874	19545											
PLCG1	5335	broad.mit.edu	37	chr20	39800838	39800838	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtgtcaccagctcacTgaagggaagataatggaacg	13	7	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:39800838T>C	uc002xjp.1	+	25	2935	c.2814T>C	c.(2812-2814)ACT>ACC	p.T938T	PLCG1_uc002xjo.1_Silent_p.T938T|PLCG1_uc010zwe.1_Silent_p.T564T	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	938					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				ACCAGCTCACTGAAGGGAAGA	0.577													C	39800838	T	C	39800838	2	2	20	1	0	0	0	0	0	0	0	1	12035	1567	55	3		3	PLCG1	20	39800838	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	12076	39800838	23224682	1875	19546											
CHD6	84181	broad.mit.edu	37	chr20	40049262	40049262	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggggaaaacgttttgcccctCtgcactttctttccaaggtt	9	11	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:40049262C>G	uc002xka.1	-	31	6191	c.6013G>C	c.(6013-6015)GAG>CAG	p.E2005Q		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2005					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TTTTGCCCCTCTGCACTTTCT	0.413													G	40049262	C	G	40049262	3	3	20	1	0	0	0	0	1	0	0	0	3329	922	32	5	2162	5	CHD6	20	40049262	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	248424	40049262	22976258	1876	19547											
CHD6	84181	broad.mit.edu	37	chr20	40102043	40102043	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattgatccccaggcctccCgctctggtgcacagaagaaa	10	13	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:40102043C>T	uc002xka.1	-	17	2761	c.2583G>A	c.(2581-2583)GCG>GCA	p.A861A	CHD6_uc002xkd.2_Silent_p.A839A	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	861	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				CCAGGCCTCCCGCTCTGGTGC	0.517													T	40102043	C	T	40102043	2	4	20	1	0	0	0	0	0	0	0	1	3329	639	23	1		1	CHD6	20	40102043	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	52781	40102043	22923477	1877	19548											
R3HDML	140902	broad.mit.edu	37	chr20	42979427	42979427	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatccaacaagttcacgtggTtctgaattttctctgggctt	8	9	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:42979427T>C	uc002xls.1	+	5	929	c.757T>C	c.(757-759)TTC>CTC	p.F253L		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like precursor	253						extracellular region	peptidase inhibitor activity				0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GTTCACGTGGTTCTGAATTTT	0.507													C	42979427	T	C	42979427	3	2	20	1	0	0	0	0	1	0	0	0	12889	1725	60	3	775	3	R3HDML	20	42979427	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2877384	42979427	20046093	1878	19549											
NCOA5	57727	broad.mit.edu	37	chr20	44695753	44695753	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctttcggcatcaaagcgTctctggatttcctcaaaata	8	11	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:44695753T>C	uc002xrd.2	-	4	1098	c.570A>G	c.(568-570)AGA>AGG	p.R190R	NCOA5_uc002xrc.2_Silent_p.R78R|NCOA5_uc002xre.2_Silent_p.R190R	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)				CATCAAAGCGTCTCTGGATTT	0.433													C	44695753	T	C	44695753	2	2	20	1	0	0	0	0	0	0	0	1	10232	1664	58	3		3	NCOA5	20	44695753	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1716326	44695753	18329767	1879	19550											
ZMYND8	23613	broad.mit.edu	37	chr20	45875225	45875225	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccgaatcgctgtgctctAcggccgtatagacatcttcc	8	15	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:45875225A>G	uc002xta.1	-	14	2005	c.1751T>C	c.(1750-1752)GTA>GCA	p.V584A	ZMYND8_uc010ghq.1_Missense_Mutation_p.V261A|ZMYND8_uc010ghr.1_Missense_Mutation_p.V559A|ZMYND8_uc002xst.1_Missense_Mutation_p.V512A|ZMYND8_uc002xsu.1_Missense_Mutation_p.V584A|ZMYND8_uc002xsv.1_Missense_Mutation_p.V512A|ZMYND8_uc002xsw.1_Missense_Mutation_p.V336A|ZMYND8_uc002xsx.1_Missense_Mutation_p.V336A|ZMYND8_uc002xsy.1_Missense_Mutation_p.V559A|ZMYND8_uc002xsz.1_Missense_Mutation_p.V521A|ZMYND8_uc010zxy.1_Missense_Mutation_p.V611A|ZMYND8_uc002xtb.1_Missense_Mutation_p.V604A|ZMYND8_uc002xss.2_Missense_Mutation_p.V584A|ZMYND8_uc010zxz.1_Missense_Mutation_p.V579A|ZMYND8_uc002xtc.1_Missense_Mutation_p.V604A|ZMYND8_uc002xtd.1_Missense_Mutation_p.V579A|ZMYND8_uc002xte.1_Missense_Mutation_p.V584A|ZMYND8_uc010zya.1_Missense_Mutation_p.V584A|ZMYND8_uc002xtf.1_Missense_Mutation_p.V604A|ZMYND8_uc002xtg.2_Missense_Mutation_p.V578A|ZMYND8_uc010ghs.1_Missense_Mutation_p.V578A	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	584							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GCTGTGCTCTACGGCCGTATA	0.418													G	45875225	A	G	45875225	3	3	20	1	0	0	0	0	1	0	0	0	17708	391	14	3	1795	3	ZMYND8	20	45875225	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1179472	45875225	17150295	1880	19551											
STAU1	6780	broad.mit.edu	37	chr20	47734382	47734382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgagaggtccatggggtaCgtggcctgaagagatgttat	16	6	0	3	rs146630196		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:47734382C>T	uc002xud.2	-	11	1852	c.1441G>A	c.(1441-1443)GTA>ATA	p.V481I	STAU1_uc002xua.2_Missense_Mutation_p.V400I|STAU1_uc002xub.2_Missense_Mutation_p.V406I|STAU1_uc002xuc.2_Missense_Mutation_p.V400I|STAU1_uc002xue.2_Missense_Mutation_p.V400I|STAU1_uc002xuf.2_Missense_Mutation_p.V406I|STAU1_uc002xug.2_Missense_Mutation_p.V481I	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	481						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CCATGGGGTACGTGGCCTGAA	0.542													T	47734382	C	T	47734382	3	4	20	1	0	0	0	0	1	0	0	0	15271	536	19	1	308	1	STAU1	20	47734382	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1859157	47734382	15291138	1881	19552											
B4GALT5	9334	broad.mit.edu	37	chr20	48256306	48256306	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgttccactgttaagccacTcactccgccaaagaactcgg	7	14	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:48256306T>G	uc002xuu.3	-	7	1020	c.826A>C	c.(826-828)AGT>CGT	p.S276R		NM_004776	NP_004767	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	276	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			GTTAAGCCACTCACTCCGCCA	0.473													G	48256306	T	G	48256306	3	3	20	1	0	0	0	0	1	0	0	0	1274	1551	54	5	352	5	B4GALT5	20	48256306	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	521924	48256306	14769214	1882	19553											
ATP9A	10079	broad.mit.edu	37	chr20	50255941	50255941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggaagatctgtaggatggTgaagttcaggatctggtcgc	16	5	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:50255941T>C	uc002xwg.1	-	15	1609	c.1609A>G	c.(1609-1611)ACC>GCC	p.T537A	ATP9A_uc010gih.1_Missense_Mutation_p.T401A|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	537	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						TGTAGGATGGTGAAGTTCAGG	0.527											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	50255941	T	C	50255941	3	2	20	1	0	0	0	0	1	0	0	0	1198	1696	59	3	1590	3	ATP9A	20	50255941	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1999635	50255941	12769579	1883	19554											
TSHZ2	128553	broad.mit.edu	37	chr20	51870150	51870150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaatgacacagggacggaCgaggagctagaaacgggccc	16	10	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:51870150C>T	uc002xwo.2	+	2	1109	c.153C>T	c.(151-153)GAC>GAT	p.D51D		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	51					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			CAGGGACGGACGAGGAGCTAG	0.408													T	51870150	C	T	51870150	2	4	20	1	0	0	0	0	0	0	0	1	16621	535	19	1		1	TSHZ2	20	51870150	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1614209	51870150	11155370	1884	19555											
ZNF217	7764	broad.mit.edu	37	chr20	52193331	52193331	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggggctaacttcaaggtTatgggtggtactgccatccg	13	8	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:52193331T>C	uc002xwq.3	-	3	2243	c.1972A>G	c.(1972-1974)AAC>GAC	p.N658D	ZNF217_uc010gij.1_Missense_Mutation_p.N650D	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	658					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			ACTTCAAGGTTATGGGTGGTA	0.463													C	52193331	T	C	52193331	3	2	20	1	0	0	0	0	1	0	0	0	17769	1754	61	3	1182	3	ZNF217	20	52193331	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	323181	52193331	10832189	1885	19556											
ZNF217	7764	broad.mit.edu	37	chr20	52198795	52198795	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctggactactctccaagcCttgctgcagtttgcttctgg	10	12	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:52198795C>A	uc002xwq.3	-	1	842	c.571G>T	c.(571-573)GGC>TGC	p.G191C	ZNF217_uc010gij.1_Missense_Mutation_p.G183C	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	191					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CTCTCCAAGCCTTGCTGCAGT	0.507													A	52198795	C	A	52198795	3	1	20	1	0	0	0	0	1	0	0	0	17769	681	24	5	2591	5	ZNF217	20	52198795	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	5464	52198795	10826725	1886	19557											
BCAS1	8537	broad.mit.edu	37	chr20	52645335	52645335	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctgcggcttggtctccggTacgtcctggtacaggccgag	14	12	2	0	rs143563841		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:52645335T>C	uc002xws.2	-	4	657	c.319A>G	c.(319-321)ACC>GCC	p.T107A	BCAS1_uc010zzb.1_Missense_Mutation_p.T10A|BCAS1_uc010gim.2_Missense_Mutation_p.T10A|BCAS1_uc002xwt.2_Missense_Mutation_p.T107A|BCAS1_uc010gil.1_Missense_Mutation_p.T107A|BCAS1_uc010zzc.1_Missense_Mutation_p.T10A	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	107						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TGGTCTCCGGTACGTCCTGGT	0.517													C	52645335	T	C	52645335	3	2	20	1	0	0	0	0	1	0	0	0	1350	1638	57	3	1471	3	BCAS1	20	52645335	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	446540	52645335	10380185	1887	19558											
ZBP1	81030	broad.mit.edu	37	chr20	56188310	56188310	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggaaatccagctgttgggTccattctggcagatcatgtt	11	8	2	1	rs141358064		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:56188310T>C	uc002xyo.2	-	5	860	c.579A>G	c.(577-579)GGA>GGG	p.G193G	ZBP1_uc010gjm.2_Silent_p.G192G|ZBP1_uc002xyp.2_Silent_p.G118G|ZBP1_uc010zzn.1_Silent_p.G193G	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1 isoform a	193						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			ovary(2)	2	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			AGCTGTTGGGTCCATTCTGGC	0.438													C	56188310	T	C	56188310	2	2	20	1	0	0	0	0	0	0	0	1	17518	1654	58	3		3	ZBP1	20	56188310	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3542975	56188310	6837210	1888	19559											
APCDD1L	164284	broad.mit.edu	37	chr20	57036091	57036091	+	Frame_Shift_Del	DEL	G	G	-													gaagagcaggctttgcccgaGggggtcttgttccatcttga							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:57036090_57036090AG>A	uc010zzp.1	-	4	1619	c.1295_1295CT>T	c.(1294-1296)ctcfs	p.L432fs	APCDD1L_uc002xze.1_Frame_Shift_Del_p.L421fs	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1-like (APCDD1L), mRNA.	421						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GCTTTGCCCGAGGGGGTCTTG	0.612													-	57036091	G	-	57036091	7	5	20	1	0	1	0	1	0	0	0	0	766	1000	35	0	248	0	APCDD1L	20	57036091	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	847781	57036091	5989429	1889	19560											
ZNF831	128611	broad.mit.edu	37	chr20	57766920	57766920	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agagaggctccttgggactcTgcccccatggcgtcacctgg	13	14	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:57766920T>A	uc002yan.2	+	1	846	c.846T>A	c.(844-846)TCT>TCA	p.S282S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	282						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CTTGGGACTCTGCCCCCATGG	0.662													A	57766920	T	A	57766920	2	1	20	1	0	0	0	0	0	0	0	1	18182	1567	55	5		5	ZNF831	20	57766920	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	730829	57766920	5258600	1890	19561											
PHACTR3	116154	broad.mit.edu	37	chr20	58349364	58349364	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccgtctgtcgagaacgtcCagcgtggagcggggcaagga	17	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:58349364C>T	uc002yau.2	+	7	1460	c.993C>T	c.(991-993)TCC>TCT	p.S331S	PHACTR3_uc002yat.2_Silent_p.S328S|PHACTR3_uc010zzw.1_Silent_p.S290S|PHACTR3_uc002yav.2_Silent_p.S290S|PHACTR3_uc002yaw.2_Silent_p.S290S|PHACTR3_uc002yax.2_Silent_p.S220S	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	331						nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CGAGAACGTCCAGCGTGGAGC	0.522													T	58349364	C	T	58349364	2	4	20	1	0	0	0	0	0	0	0	1	11811	581	21	4		4	PHACTR3	20	58349364	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	582444	58349364	4676156	1891	19562											
CABLES2	81928	broad.mit.edu	37	chr20	60971390	60971390	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgttcctggtgtcgtActgcctcatgttcttgatga	10	11	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:60971390A>G	uc002ycv.2	-	3	515	c.508T>C	c.(508-510)TAC>CAC	p.Y170H		NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	170					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			pancreas(1)	1	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTGGTGTCGTACTGCCTCATG	0.562													G	60971390	A	G	60971390	3	3	20	1	0	0	0	0	1	0	0	0	2530	391	14	3	960	3	CABLES2	20	60971390	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	2622026	60971390	2054130	1892	19563											
SLCO4A1	28231	broad.mit.edu	37	chr20	61297757	61297757	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggtgccagcgggtggTggcggcaccttcctgggcgg	20	11	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:61297757T>C	uc002ydb.1	+	7	1507	c.1302T>C	c.(1300-1302)GGT>GGC	p.G434G	SLCO4A1_uc002ydc.1_RNA|LOC100127888_uc002ydd.2_RNA|SLCO4A1_uc002yde.1_5'Flank	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family	434	Helical; Name=8; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(1)	1	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CAGCGGGTGGTGGCGGCACCT	0.662													C	61297757	T	C	61297757	2	2	20	1	0	0	0	0	0	0	0	1	14729	1683	59	3		3	SLCO4A1	20	61297757	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	326367	61297757	1727763	1893	19564											
TCFL5	10732	broad.mit.edu	37	chr20	61488984	61488984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgcttgtttgcatagcGctgcttctttgcgaaagaag	11	8	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:61488984G>A	uc002ydp.2	-	4	1094	c.1001C>T	c.(1000-1002)GCG>GTG	p.A334V	TCFL5_uc002ydo.2_Missense_Mutation_p.A107V|TCFL5_uc002ydq.2_Missense_Mutation_p.A333V	NM_006602	NP_006593	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 protein	334					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1	Breast(26;5.68e-08)					TTTGCATAGCGCTGCTTCTTT	0.388													A	61488984	G	A	61488984	3	1	20	1	0	0	0	0	1	0	0	0	15696	1087	38	1	513	1	TCFL5	20	61488984	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	191227	61488984	1536536	1894	19565											
KCNQ2	3785	broad.mit.edu	37	chr20	62070977	62070977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgcgaagaaggagacacCgatgagggtgaaggttgccg	17	8	0	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:62070977C>T	uc002yey.1	-	6	1078	c.901G>A	c.(901-903)GGT>AGT	p.G301S	KCNQ2_uc002yez.1_Missense_Mutation_p.G301S|KCNQ2_uc002yfa.1_Missense_Mutation_p.G301S|KCNQ2_uc002yfb.1_Missense_Mutation_p.G301S|KCNQ2_uc011aax.1_Missense_Mutation_p.G301S|KCNQ2_uc002yfc.1_Missense_Mutation_p.G301S	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	301	Helical; Name=Segment S6; (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	AAGGAGACACCGATGAGGGTG	0.642													T	62070977	C	T	62070977	3	4	20	1	0	0	0	0	1	0	0	0	8083	652	23	1	1829	1	KCNQ2	20	62070977	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	581993	62070977	954543	1895	19566											
PRIC285	85441	broad.mit.edu	37	chr20	62196230	62196230	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcagcaccttggtgatGgtggcctggtccgacggggg	17	10	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:62196230G>T	uc002yfm.2	-	9	4837	c.3945C>A	c.(3943-3945)ACC>ACA	p.T1315T	PRIC285_uc002yfl.1_Silent_p.T746T	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1315					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CCTTGGTGATGGTGGCCTGGT	0.677													T	62196230	G	T	62196230	2	4	20	1	0	0	0	0	0	0	0	1	12485	1335	47	5		5	PRIC285	20	62196230	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	125253	62196230	829290	1896	19567											
ARFRP1	10139	broad.mit.edu	37	chr20	62333552	62333552	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgacgtagatgacgccGtgacactccgcataatactg	9	11	1	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:62333552G>A	uc002yga.2	-	4	849	c.282C>T	c.(280-282)CAC>CAT	p.H94H	ARFRP1_uc002ygc.2_Silent_p.H94H|ARFRP1_uc002ygh.3_Silent_p.H94H|ARFRP1_uc011abf.1_Silent_p.H94H|ARFRP1_uc011abg.1_Silent_p.H94H|ARFRP1_uc002yge.2_RNA|ARFRP1_uc002ygd.2_RNA|ARFRP1_uc002ygf.2_Silent_p.H94H|ARFRP1_uc002ygg.2_RNA|ARFRP1_uc011abh.1_RNA	NM_003224	NP_003215	Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	94					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|skin(1)	2	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			AGATGACGCCGTGACACTCCG	0.622													A	62333552	G	A	62333552	2	1	20	1	0	0	0	0	0	0	0	1	856	1136	40	1		1	ARFRP1	20	62333552	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	137322	62333552	691968	1897	19568											
CXADR	1525	broad.mit.edu	37	chr21	18933045	18933045	+	Frame_Shift_Del	DEL	A	A	-													acttcatctgttatatctgtAaaaaatgcctcttctgagta							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:18933044_18933044TA>T	uc002yki.3	+	4	820	c.596_596TA>T	c.(595-597)gtafs	p.V199fs	CXADR_uc002ykh.2_Intron|CXADR_uc010gld.2_Intron|CXADR_uc010gle.2_Intron|CXADR_uc021whp.1_Intron|CXADR_uc002ykj.2_Frame_Shift_Del_p.V199fs	NM_001338	NP_001329	P78310	CXAR_HUMAN	Homo sapiens coxsackie virus and adenovirus receptor (CXADR), transcript variant 1, mRNA.	199	Ig-like C2-type 2.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		GTTATATCTGTAAAAAATGCC	0.388													-	18933045	A	-	18933045	7	5	20	1	0	1	0	1	0	0	0	0	4076	349	13	0	615	0	CXADR	21	18933045	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08		18933045	29196850	1898	19569											
APP	351	broad.mit.edu	37	chr21	27425630	27425630	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagaatttgcacttgtcAggaacgagaagggcatcact	11	7	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:27425630A>C	uc002ylz.2	-	4	590	c.390T>G	c.(388-390)CCT>CCG	p.P130P	APP_uc010glk.2_Silent_p.P125P|APP_uc002yma.2_Silent_p.P130P|APP_uc011ach.1_Silent_p.P74P|APP_uc002ymb.2_Silent_p.P130P|APP_uc010glj.2_Silent_p.P74P|APP_uc011aci.1_Silent_p.P95P|APP_uc011acj.1_Silent_p.P130P	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	130	Extracellular (Potential).				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				TGCACTTGTCAGGAACGAGAA	0.458													C	27425630	A	C	27425630	2	2	20	1	0	0	0	0	0	0	0	1	815	175	7	5		5	APP	21	27425630	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	8492585	27425630	20704265	1899	19570											
CYYR1	116159	broad.mit.edu	37	chr21	27938629	27938629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtaggagcaacagtagggCgtggttccatcacagcagta	13	8	1	0	rs146759335	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:27938629C>T	uc002ymd.2	-	2	454	c.132G>A	c.(130-132)ACG>ACA	p.T44T	CYYR1_uc011ack.1_RNA|CYYR1_uc002yme.2_Silent_p.T44T	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	cysteine and tyrosine-rich 1 protein precursor	44	Extracellular (Potential).					integral to membrane					0						AACAGTAGGGCGTGGTTCCAT	0.423													T	27938629	C	T	27938629	2	4	20	1	0	0	0	0	0	0	0	1	4211	755	27	1		1	CYYR1	21	27938629	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	512999	27938629	20191266	1900	19571											
ADAMTS5	11096	broad.mit.edu	37	chr21	28296636	28296636	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagctataacggacatcTaatggtttagtggggtctgt	11	5	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:28296636T>A	uc002ymg.2	-	8	3258	c.2529A>T	c.(2527-2529)TTA>TTT	p.L843F		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	843	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						AACGGACATCTAATGGTTTAG	0.463													A	28296636	T	A	28296636	3	1	20	1	0	0	0	0	1	0	0	0	269	1519	53	5	267	5	ADAMTS5	21	28296636	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	358007	28296636	19833259	1901	19572											
RNF160	26046	broad.mit.edu	37	chr21	30365199	30365199	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacacaacttccggcttctGgcggcggaagaggacaccct	13	13	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:30365199G>A	uc002ymr.2	-	1	79	c.66C>T	c.(64-66)GCC>GCT	p.A22A		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	Error:Variant_position_missing_in_O94822_after_alignment							ligase activity|zinc ion binding				0						TCCGGCTTCTGGCGGCGGAAG	0.627													A	30365199	G	A	30365199	2	1	20	1	0	0	0	0	0	0	0	1	13455	1335	47	4		4	RNF160	21	30365199	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2068563	30365199	17764696	1902	19573											
TIAM1	7074	broad.mit.edu	37	chr21	32639181	32639181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcgtgcctggtcctccgCgtcttgtgcgagaggcgcag	16	12	1	1	rs144300474		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:32639181C>T	uc002yow.1	-	5	580	c.108G>A	c.(106-108)ACG>ACA	p.T36T	TIAM1_uc011adk.1_Silent_p.T36T|TIAM1_uc011adl.1_Silent_p.T36T|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	36					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TGGTCCTCCGCGTCTTGTGCG	0.612													T	32639181	C	T	32639181	2	4	20	1	0	0	0	0	0	0	0	1	15887	755	27	1		1	TIAM1	21	32639181	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2273982	32639181	15490714	1903	19574											
SON	6651	broad.mit.edu	37	chr21	34924556	34924556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgtcctatgctgcagaaCgttccatgatgtcatcttac	8	10	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:34924556C>T	uc002yse.1	+	3	3068	c.3019C>T	c.(3019-3021)CGT>TGT	p.R1007C	SON_uc002ysb.1_Missense_Mutation_p.R1007C|SON_uc002ysc.2_Missense_Mutation_p.R1007C|SON_uc002ysd.2_Translation_Start_Site|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Translation_Start_Site	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1007	1-1.|14 X 6 AA repeats of [ED]-R-S-M-M-S.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						TGCTGCAGAACGTTCCATGAT	0.483													T	34924556	C	T	34924556	3	4	20	1	0	0	0	0	1	0	0	0	14926	536	19	1	3029	1	SON	21	34924556	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2285375	34924556	13205339	1904	19575											
DSCR6	53820	broad.mit.edu	37	chr21	38380463	38380463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgccgttccagccccgcGccgtggcgaccttggatcca	12	17	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:38380463G>A	uc002yvv.2	+	2	321	c.111G>A	c.(109-111)GCG>GCA	p.A37A	DSCR6_uc011aec.1_5'UTR|DSCR6_uc010gnd.2_5'UTR	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Down syndrome critical region protein 6	37						nucleus				breast(1)	1		Myeloproliferative disorder(46;0.0632)				CCAGCCCCGCGCCGTGGCGAC	0.587													A	38380463	G	A	38380463	2	1	20	1	0	0	0	0	0	0	0	1	4773	1074	38	1		1	DSCR6	21	38380463	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3455907	38380463	9749432	1905	19576											
HMGN1	3150	broad.mit.edu	37	chr21	40720231	40720231	+	Frame_Shift_Del	DEL	T	T	-													ggcttaccttcgctgctgccTttttcggcttcgcttccact							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:40720230_40720230CT>C	uc002yxo.3	-	3	318	c.114_114AG>G	c.(112-114)aagfs	p.K38fs	HMGN1_uc021wjh.1_5'Flank	NM_004965	NP_004956	P05114	HMGN1_HUMAN	Homo sapiens high mobility group nucleosome binding domain 1 (HMGN1), mRNA.	38					positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				TCGCTGCTGCCTTTTTCGGCT	0.547													-	40720231	T	-	40720231	7	5	20	1	0	1	0	1	0	0	0	0	7234	1609	56	0	201	0	HMGN1	21	40720231	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	2339768	40720231	7409664	1906	19577											
LCA5L	150082	broad.mit.edu	37	chr21	40794907	40794907	+	Frame_Shift_Del	DEL	T	T	-													ccctgaaatacagacctgtaTttttttgtcatttgcgtcca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:40794906_40794906AT>A	uc002yxu.3	-	4	1146	c.833_833AT>T	c.(832-834)atafs	p.I278fs	LCA5L_uc002yxv.3_Frame_Shift_Del_p.I278fs|LCA5L_uc021wji.1_Frame_Shift_Del_p.I140fs|LCA5L_uc002yxw.2_Frame_Shift_Del_p.I278fs|LCA5L_uc002yxy.3_Non-coding_Transcript	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Homo sapiens Leber congenital amaurosis 5-like (LCA5L), mRNA.	278										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				ACAGACCTGTATTTTTTTGTC	0.383													-	40794907	T	-	40794907	7	5	20	1	0	1	0	1	0	0	0	0	8657	1493	52	0	1204	0	LCA5L	21	40794907	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08	74676	40794907	7334988	1907	19578											
ZNF295	49854	broad.mit.edu	37	chr21	43412127	43412127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaaggggtttttctcctGgatgcatttttatatgctgc	9	9	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:43412127G>A	uc002zab.3	-	3	2292	c.2078C>T	c.(2077-2079)CCA>CTA	p.P693L	ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Missense_Mutation_p.P693L|ZNF295_uc002zaa.3_Missense_Mutation_p.P693L	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	693					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						TTTTTCTCCTGGATGCATTTT	0.433													A	43412127	G	A	43412127	3	1	20	1	0	0	0	0	1	0	0	0	17824	1348	47	4	1126	4	ZNF295	21	43412127	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	2617220	43412127	4717768	1908	19579											
RRP1B	23076	broad.mit.edu	37	chr21	45107681	45107681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaataaaaggaaacggccaCggaagaagagcccgagggcc	13	10	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:45107681C>T	uc002zdk.2	+	13	1540	c.1426C>T	c.(1426-1428)CGG>TGG	p.R476W	RRP1B_uc002zdl.2_Missense_Mutation_p.R9W	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1 homolog B	476					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.178)		GAAACGGCCACGGAAGAAGAG	0.617													T	45107681	C	T	45107681	3	4	20	1	0	0	0	0	1	0	0	0	13688	527	19	1	1476	1	RRP1B	21	45107681	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1695554	45107681	3022214	1909	19580											
TRPM2	7226	broad.mit.edu	37	chr21	45786736	45786737	+	Frame_Shift_Ins	INS	-	-	G													tctcttgatctcggtgaccgINSggggggccaagaacttcaac							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:45786735_45786736C>CG	uc010gpt.1	+	3	622_623	c.522_523C>CG	c.(520-525)accgggfs	p.T174fs	TRPM2_uc002zet.1_Frame_Shift_Ins_p.T174fs|TRPM2_uc002zeu.1_Frame_Shift_Ins_p.T174fs|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Frame_Shift_Ins_p.T174fs|TRPM2_uc002zex.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	174						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCTCGGTGACCGGGGGGGCCAA	0.609													G	45786737	-	G	45786736	7	5	20	1	0	1	1	0	0	0	0	0	16583	1116	39	0	537	0	TRPM2	21	45786736	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	679055	45786736	2343159	1910	19581											
KRTAP12-2	353323	broad.mit.edu	37	chr21	46086510	46086510	+	Frame_Shift_Del	DEL	G	G	-													cacagggaggactggcaggaGggggctgcacacacaatggg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:46086509_46086509AG>A	uc002zfu.3	-	0	336	c.295_295CT>T	c.(295-297)tccfs	p.S99fs	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181684	NP_859012	P59991	KR122_HUMAN	Homo sapiens keratin associated protein 12-2 (KRTAP12-2), mRNA.	99	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						GACTGGCAGGAGGGGGCTGCA	0.642													-	46086510	G	-	46086510	7	5	20	1	0	1	0	1	0	0	0	0	8519	987	35	0	150	0	KRTAP12-2	21	46086510	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	299774	46086510	2043385	1911	19582											
COL18A1	80781	broad.mit.edu	37	chr21	46907379	46907379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgacatggaaggctccGgggggcccttctggtcaaca	15	10	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:46907379G>A	uc011afs.1	+	16	3118	c.3097G>A	c.(3097-3099)GGG>AGG	p.G1033R	COL18A1_uc002zhg.2_Missense_Mutation_p.G618R|COL18A1_uc002zhi.2_Missense_Mutation_p.G798R	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1033	Nonhelical region 4 (NC4).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGAAGGCTCCGGGGGGCCCTT	0.647													A	46907379	G	A	46907379	3	1	20	1	0	0	0	0	1	0	0	0	3675	1116	39	1	3273	1	COL18A1	21	46907379	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	820869	46907379	1222516	1912	19583											
COL6A1	1291	broad.mit.edu	37	chr21	47422515	47422515	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatgtcatttcttgccaAggcctggcaccatcccaggg	9	14	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:47422515A>G	uc002zhu.1	+	33	2427	c.2325A>G	c.(2323-2325)CAA>CAG	p.Q775Q	COL6A1_uc010gqd.1_Silent_p.Q106Q|COL6A1_uc002zhv.1_Silent_p.Q106Q|COL6A1_uc002zhw.1_5'UTR	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	775	VWFA 2.|C-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TTTCTTGCCAAGGCCTGGCAC	0.582													G	47422515	A	G	47422515	2	3	20	1	0	0	0	0	0	0	0	1	3699	69	3	3		3	COL6A1	21	47422515	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	515136	47422515	707380	1913	19584											
COL6A2	1292	broad.mit.edu	37	chr21	47545909	47545909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaagacacgtgtgtttgCggtggtcatcacggacgggc	15	10	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:47545909C>T	uc002zia.1	+	26	2262	c.2180C>T	c.(2179-2181)GCG>GTG	p.A727V	COL6A2_uc002zhy.1_Missense_Mutation_p.A727V|COL6A2_uc002zhz.1_Missense_Mutation_p.A727V|COL6A2_uc002zib.1_Missense_Mutation_p.A133V|COL6A2_uc002zic.1_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	727	VWFA 2.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CGTGTGTTTGCGGTGGTCATC	0.657													T	47545909	C	T	47545909	3	4	20	1	0	0	0	0	1	0	0	0	3700	768	27	1	2278	1	COL6A2	21	47545909	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	123394	47545909	583986	1914	19585											
LSS	4047	broad.mit.edu	37	chr21	47626623	47626623	+	Frame_Shift_Del	DEL	C	C	-													ttcagcagctccagcaagtgCcccccacgcttggtctcata							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:47626622_47626622GC>G	uc002zij.3	-	15	1607	c.1528_1528GC>C	c.(1528-1530)cacfs	p.H510fs	LSS_uc002zil.2_Frame_Shift_Del_p.H510fs|LSS_uc011afv.1_Frame_Shift_Del_p.H499fs|LSS_uc002zik.2_Frame_Shift_Del_p.H430fs	NM_001001438	NP_002331	P48449	ERG7_HUMAN	Homo sapiens lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) (LSS), transcript variant 2, mRNA.	510					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					TCCAGCAAGTGCCCCCCACGC	0.597													-	47626623	C	-	47626623	7	5	20	1	0	1	0	1	0	0	0	0	9065	726	26	0	699	0	LSS	21	47626623	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	80714	47626623	503272	1915	19586											
LSS	4047	broad.mit.edu	37	chr21	47633708	47633708	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcagtggaggcgggcccGtccacataccagcgcacaag	14	13	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:47633708G>A	uc002zij.2	-	10	1132	c.1053C>T	c.(1051-1053)GAC>GAT	p.D351D	LSS_uc011afv.1_Silent_p.D340D|LSS_uc002zil.2_Silent_p.D351D|LSS_uc002zik.2_Silent_p.D271D	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	351					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					AGGCGGGCCCGTCCACATACC	0.602													A	47633708	G	A	47633708	2	1	20	1	0	0	0	0	0	0	0	1	9065	1136	40	1		1	LSS	21	47633708	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	7085	47633708	496187	1916	19587											
CLTCL1	8218	broad.mit.edu	37	chr22	19241652	19241652	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaccaaggcaacagtgtTcacagaaacccatttccaga	8	12	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:19241652T>C	uc002zpb.2	-	3	424	c.349A>G	c.(349-351)AAC>GAC	p.N117D	CLTCL1_uc011agv.1_Missense_Mutation_p.N117D|CLTCL1_uc011agw.1_Missense_Mutation_p.N117D	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	117	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					GCAACAGTGTTCACAGAAACC	0.463			T	?	ALCL								C	19241652	T	C	19241652	3	2	20	1	0	0	0	0	1	0	0	0	3567	1783	62	3	4693	3	CLTCL1	22	19241652	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08		19241652	32062914	1917	19588											
TXNRD2	10587	broad.mit.edu	37	chr22	19905729	19905729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgattttgaacagcttctGccatcttcctcctgtgaaga	8	11	2	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:19905729G>A	uc011ahc.1	-	5	419	c.386C>T	c.(385-387)GCA>GTA	p.A129V	TXNRD2_uc002zql.1_5'UTR|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Missense_Mutation_p.A128V|TXNRD2_uc010grv.1_Missense_Mutation_p.A129V|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqs.2_Missense_Mutation_p.A97V	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2 precursor	129					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			ovary(2)	2	Colorectal(54;0.0993)					AACAGCTTCTGCCATCTTCCT	0.493													A	19905729	G	A	19905729	3	1	20	1	0	0	0	0	1	0	0	0	16805	1319	46	2	1240	2	TXNRD2	22	19905729	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	664077	19905729	31398837	1918	19589											
RTN4R	65078	broad.mit.edu	37	chr22	20230039	20230039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttctggtgcagtaggagaCggtcgaggctgtgcagccca	17	9	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:20230039C>T	uc002zrv.2	-	2	818	c.617G>A	c.(616-618)CGT>CAT	p.R206H	RTN4R_uc002zru.2_5'UTR	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor precursor	206	LRR 7.				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity				0	Colorectal(54;0.0993)					CAGTAGGAGACGGTCGAGGCT	0.622													T	20230039	C	T	20230039	3	4	20	1	0	0	0	0	1	0	0	0	13730	536	19	1	808	1	RTN4R	22	20230039	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	324310	20230039	31074527	1919	19590											
ZNF74	7625	broad.mit.edu	37	chr22	20760268	20760268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggaaggccttcagctgCcactcgtccctcaacgtgca	11	15	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:20760268C>T	uc010gsm.2	+	6	1157	c.945C>T	c.(943-945)TGC>TGT	p.C315C	ZNF74_uc002zsg.2_Silent_p.C244C|ZNF74_uc002zsh.2_Silent_p.C315C|ZNF74_uc002zsi.2_Silent_p.C244C|ZNF74_uc010gsn.2_Silent_p.C244C	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	315	C2H2-type 3.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCTTCAGCTGCCACTCGTCCC	0.657													T	20760268	C	T	20760268	2	4	20	1	0	0	0	0	0	0	0	1	18124	747	26	2		2	ZNF74	22	20760268	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	530229	20760268	30544298	1920	19591											
LZTR1	8216	broad.mit.edu	37	chr22	21340177	21340177	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gttcgatgtgaaagactgctCctggtgcaggtgggtggccc	16	9	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:21340177C>G	uc002zto.2	+	3	414	c.311C>G	c.(310-312)TCC>TGC	p.S104C	LZTR1_uc002ztn.2_Missense_Mutation_p.S63C|LZTR1_uc011ahy.1_Intron|LZTR1_uc010gsr.1_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	104	Kelch 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AAAGACTGCTCCTGGTGCAGG	0.582													G	21340177	C	G	21340177	3	3	20	1	0	0	0	0	1	0	0	0	9137	855	30	5	321	5	LZTR1	22	21340177	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	579909	21340177	29964389	1921	19592											
SLC7A4	6545	broad.mit.edu	37	chr22	21385698	21385698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtagccactccaggcaCgggccacggcggcgccaccg	14	18	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:21385698C>T	uc002zud.2	-	2	472	c.404G>A	c.(403-405)CGT>CAT	p.R135H	SLC7A4_uc002zue.2_Missense_Mutation_p.R135H	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	135					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACTCCAGGCACGGGCCACGGC	0.607													T	21385698	C	T	21385698	3	4	20	1	0	0	0	0	1	0	0	0	14699	536	19	1	1519	1	SLC7A4	22	21385698	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	45521	21385698	29918868	1922	19593											
ZNF280A	129025	broad.mit.edu	37	chr22	22869883	22869883	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctggatcttcatcatcctcCtccctttgtttggattctct	5	13	5	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:22869883C>A	uc002zwe.2	-	2	325	c.72G>T	c.(70-72)GAG>GAT	p.E24D	LOC96610_uc011aim.1_Intron	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CATCATCCTCCTCCCTTTGTT	0.383													A	22869883	C	A	22869883	3	1	20	1	0	0	0	0	1	0	0	0	17811	680	24	5	1560	5	ZNF280A	22	22869883	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1484185	22869883	28434683	1923	19594											
SUSD2	56241	broad.mit.edu	37	chr22	24581755	24581755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcacccccgttccgcacGccaccccgagtgcccagcat	10	21	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:24581755G>A	uc002zzn.1	+	8	1241	c.1197G>A	c.(1195-1197)ACG>ACA	p.T399T		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	399	AMOP.|Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CGTTCCGCACGCCACCCCGAG	0.677													A	24581755	G	A	24581755	2	1	20	1	0	0	0	0	0	0	0	1	15405	1074	38	1		1	SUSD2	22	24581755	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1711872	24581755	26722811	1924	19595											
SGSM1	129049	broad.mit.edu	37	chr22	25251295	25251295	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accaagatgaagactgcagaTcacttctggaccgatccctc	8	13	2	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:25251295T>A	uc003abg.2	+	7	724	c.567T>A	c.(565-567)GAT>GAA	p.D189E	SGSM1_uc003abh.2_Missense_Mutation_p.D189E|SGSM1_uc010guu.1_Missense_Mutation_p.D189E|SGSM1_uc003abj.2_Missense_Mutation_p.D189E|SGSM1_uc003abi.1_Missense_Mutation_p.D164E|SGSM1_uc003abf.2_Missense_Mutation_p.D189E	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	189	RUN.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						AGACTGCAGATCACTTCTGGA	0.627													A	25251295	T	A	25251295	3	1	20	1	0	0	0	0	1	0	0	0	14222	1432	50	5	593	5	SGSM1	22	25251295	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	669540	25251295	26053271	1925	19596											
SEZ6L	23544	broad.mit.edu	37	chr22	26736590	26736590	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccagggatttatcatgaActacataggtaggtgtctca	12	7	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:26736590A>G	uc003acb.2	+	10	2360	c.2204A>G	c.(2203-2205)AAC>AGC	p.N735S	SEZ6L_uc003acc.2_Missense_Mutation_p.N735S|SEZ6L_uc011akc.1_Missense_Mutation_p.N735S|SEZ6L_uc003acd.2_Missense_Mutation_p.N735S|SEZ6L_uc011akd.1_Missense_Mutation_p.N735S|SEZ6L_uc003ace.2_Missense_Mutation_p.N735S|SEZ6L_uc003acf.1_Missense_Mutation_p.N508S|SEZ6L_uc010gvc.1_Missense_Mutation_p.N508S	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	735	CUB 3.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						TTTATCATGAACTACATAGGT	0.448													G	26736590	A	G	26736590	3	3	20	1	0	0	0	0	1	0	0	0	14143	43	2	3	2242	3	SEZ6L	22	26736590	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1485295	26736590	24567976	1926	19597											
CHEK2	11200	broad.mit.edu	37	chr22	29090021	29090021	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcactgtcccacacccaccTgaagccacgggtgtcttaag	10	15	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:29090021T>C	uc003adu.1	-	13	1532	c.1460A>G	c.(1459-1461)CAG>CGG	p.Q487R	CHEK2_uc003ads.1_Missense_Mutation_p.Q266R|CHEK2_uc010gvh.1_Missense_Mutation_p.Q396R|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.Q530R|CHEK2_uc003adv.1_Missense_Mutation_p.Q458R|CHEK2_uc003adw.1_Missense_Mutation_p.Q487R|CHEK2_uc003adx.1_Missense_Mutation_p.Q266R|CHEK2_uc003ady.1_Missense_Mutation_p.Q476R|CHEK2_uc003adz.1_Missense_Mutation_p.Q291R	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	487					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						CACACCCACCTGAAGCCACGG	0.478			F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer				C	29090021	T	C	29090021	3	2	20	1	0	0	0	0	1	0	0	0	3335	1594	55	3	183	3	CHEK2	22	29090021	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2353431	29090021	22214545	1927	19598											
ZNRF3	84133	broad.mit.edu	37	chr22	29440867	29440867	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaatcaagctgaagcagCgacgcagtcaggtagtgcct	11	10	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:29440867C>T	uc003aeg.2	+	5	598	c.433C>T	c.(433-435)CGA>TGA	p.R145*	ZNRF3_uc003aeh.1_Nonsense_Mutation_p.R145*	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	245	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1						GCTGAAGCAGCGACGCAGTCA	0.512													T	29440867	C	T	29440867	4	4	20	1	0	0	0	0	0	1	0	0	18210	760	27	1	447	1	ZNRF3	22	29440867	Nonsense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	350846	29440867	21863699	1928	19599											
AP1B1	162	broad.mit.edu	37	chr22	29745219	29745219	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctcacctgtgtgctctcGtcatggaagccctcgaggaa	12	12	3	0	rs144812422		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:29745219G>A	uc003afj.2	-	11	1609	c.1425C>T	c.(1423-1425)GAC>GAT	p.D475D	AP1B1_uc003afi.2_Silent_p.D475D|AP1B1_uc003afk.2_Silent_p.D475D|AP1B1_uc003afl.2_Silent_p.D475D|AP1B1_uc011ako.1_Silent_p.D28D	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	475					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						GTGTGCTCTCGTCATGGAAGC	0.612													A	29745219	G	A	29745219	2	1	20	1	0	0	0	0	0	0	0	1	731	1136	40	1		1	AP1B1	22	29745219	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	304352	29745219	21559347	1929	19600											
AP1B1	162	broad.mit.edu	37	chr22	29754898	29754898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactctgtgatcttgtcaacGcggatgcagcccatggtccg	11	12	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:29754898G>A	uc003afj.2	-	5	526	c.342C>T	c.(340-342)CGC>CGT	p.R114R	AP1B1_uc003afi.2_Silent_p.R114R|AP1B1_uc003afk.2_Silent_p.R114R|AP1B1_uc003afl.2_Silent_p.R114R	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	114					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						TCTTGTCAACGCGGATGCAGC	0.637													A	29754898	G	A	29754898	2	1	20	1	0	0	0	0	0	0	0	1	731	1074	38	1		1	AP1B1	22	29754898	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	9679	29754898	21549668	1930	19601											
MTMR3	8897	broad.mit.edu	37	chr22	30408454	30408454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgtggatcaggatcagCggccggtgctagtacactgc	14	10	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:30408454C>T	uc003agv.3	+	13	1547	c.1219C>T	c.(1219-1221)CGG>TGG	p.R407W	MTMR3_uc003agu.3_Missense_Mutation_p.R407W|MTMR3_uc003agw.3_Missense_Mutation_p.R407W	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	407	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCAGGATCAGCGGCCGGTGCT	0.522													T	30408454	C	T	30408454	3	4	20	1	0	0	0	0	1	0	0	0	9945	759	27	1	1261	1	MTMR3	22	30408454	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	653556	30408454	20896112	1931	19602											
MORC2	22880	broad.mit.edu	37	chr22	31332627	31332627	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttgttcagaagcctcAcacctgtagagacaaggtac	9	10	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:31332627A>G	uc003aje.1	-	18	2786	c.1422T>C	c.(1420-1422)TGT>TGC	p.C474C		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	536	CW-type.						ATP binding|zinc ion binding			ovary(1)|pancreas(1)	2						CAGAAGCCTCACACCTGTAGA	0.498													G	31332627	A	G	31332627	2	3	20	1	0	0	0	0	0	0	0	1	9702	157	6	3		3	MORC2	22	31332627	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	924173	31332627	19971939	1932	19603											
PATZ1	23598	broad.mit.edu	37	chr22	31741479	31741479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgtcgcagaagcgcccgCcgtttttgcgctgctggttc	13	14	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:31741479C>T	uc003akq.2	-	1	771	c.110G>A	c.(109-111)GGC>GAC	p.G37D	PATZ1_uc003akp.2_Missense_Mutation_p.G37D|PATZ1_uc003akr.2_Missense_Mutation_p.G37D|PATZ1_uc003aks.2_Missense_Mutation_p.G37D|uc003akt.2_5'Flank	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	37					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2						GAAGCGCCCGCCGTTTTTGCG	0.637													T	31741479	C	T	31741479	3	4	20	1	0	0	0	0	1	0	0	0	11476	739	26	2	2256	2	PATZ1	22	31741479	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	408852	31741479	19563087	1933	19604											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31840668	31840668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgctggtgacttggtcactCgctgttgcctgtgaacaaac	12	10	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:31840668C>T	uc003akz.1	-	15	2161	c.1997G>A	c.(1996-1998)CGA>CAA	p.R666Q	EIF4ENIF1_uc003akx.1_Missense_Mutation_p.R321Q|EIF4ENIF1_uc003aky.1_Missense_Mutation_p.R346Q|EIF4ENIF1_uc003ala.1_Missense_Mutation_p.R666Q|EIF4ENIF1_uc003alb.1_Missense_Mutation_p.R492Q|EIF4ENIF1_uc003akw.1_Missense_Mutation_p.R156Q	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E	666						nucleus	protein binding|protein transporter activity			ovary(1)	1						CTTGGTCACTCGCTGTTGCCT	0.468											OREG0003516	type=REGULATORY REGION|Gene=EIF4ENIF1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	31840668	C	T	31840668	3	4	20	1	0	0	0	0	1	0	0	0	5035	884	31	1	980	1	EIF4ENIF1	22	31840668	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	99189	31840668	19463898	1934	19605											
SFI1	9814	broad.mit.edu	37	chr22	31924781	31924781	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggagttacctagtaccagTcatctagtgcagtatcgtgg	12	8	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:31924781T>C	uc003ale.2	+	3	591	c.198T>C	c.(196-198)AGT>AGC	p.S66S	SFI1_uc003ald.1_Silent_p.S66S|SFI1_uc003alf.2_Silent_p.S66S|SFI1_uc003alg.2_Intron|SFI1_uc011alp.1_Intron|SFI1_uc011alq.1_Silent_p.S66S|SFI1_uc003alh.2_Intron	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	66					G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						CTAGTACCAGTCATCTAGTGC	0.488													C	31924781	T	C	31924781	2	2	20	1	0	0	0	0	0	0	0	1	14156	1664	58	3		3	SFI1	22	31924781	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	84113	31924781	19379785	1935	19606											
SFI1	9814	broad.mit.edu	37	chr22	32009377	32009377	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcctttgtactggaaaggaGgagaaagaaggcgcggctgc	17	7	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:32009377G>T	uc003ale.2	+	26	2996	c.2603G>T	c.(2602-2604)AGG>ATG	p.R868M	SFI1_uc003alf.2_Missense_Mutation_p.R837M|SFI1_uc003alg.2_Missense_Mutation_p.R786M|SFI1_uc011alp.1_Missense_Mutation_p.R774M|SFI1_uc011alq.1_Missense_Mutation_p.R813M|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA|SFI1_uc003ali.2_5'Flank|SFI1_uc003alj.2_5'Flank	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	868					G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						CTGGAAAGGAGGAGAAAGAAG	0.662													T	32009377	G	T	32009377	3	4	20	1	0	0	0	0	1	0	0	0	14156	1000	35	5	2701	5	SFI1	22	32009377	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	84596	32009377	19295189	1936	19607											
DEPDC5	9681	broad.mit.edu	37	chr22	32179916	32179916	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttcgttctacgtcggcTatggtttacatatttattca	8	7	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:32179916T>C	uc003als.2	+	9	649	c.507T>C	c.(505-507)GCT>GCC	p.A169A	DEPDC5_uc011als.1_Silent_p.A169A|DEPDC5_uc011alu.1_Silent_p.A169A|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Silent_p.A169A|DEPDC5_uc003alr.1_Silent_p.A169A|DEPDC5_uc011alt.1_Silent_p.A141A	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	169					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						CTACGTCGGCTATGGTTTACA	0.284													C	32179916	T	C	32179916	2	2	20	1	0	0	0	0	0	0	0	1	4442	1509	53	3		3	DEPDC5	22	32179916	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	170539	32179916	19124650	1937	19608											
C22orf24	25775	broad.mit.edu	37	chr22	32334034	32334034	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgatgcagccctgttgTatcctcttgagttgtcatga	9	9	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:32334034T>C	uc003aly.2	-	2	186	c.19A>G	c.(19-21)ACA>GCA	p.T7A	C22orf24_uc003alx.2_RNA	NM_015372	NP_056187	Q9Y442	CV024_HUMAN	hypothetical protein LOC25775	7						integral to membrane				central_nervous_system(1)	1						AGCCCTGTTGTATCCTCTTGA	0.358													C	32334034	T	C	32334034	3	2	20	1	0	0	0	0	1	0	0	0	2138	1638	57	3	471	3	C22orf24	22	32334034	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	154118	32334034	18970532	1938	19609											
HMOX1	3162	broad.mit.edu	37	chr22	35785929	35785929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcacgggcaccagggcttCgccagcgggccagcaacaaa	12	16	1	0	rs145427664	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:35785929C>T	uc003ant.1	+	4	789	c.709C>T	c.(709-711)CGC>TGC	p.R237C		NM_002133	NP_002124	P09601	HMOX1_HUMAN	heme oxygenase (decyclizing) 1	237					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			ovary(1)	1					NADH(DB00157)	ACCAGGGCTTCGCCAGCGGGC	0.557													T	35785929	C	T	35785929	3	4	20	1	0	0	0	0	1	0	0	0	7243	884	31	1	723	1	HMOX1	22	35785929	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	3451895	35785929	15518637	1939	19610											
MYH9	4627	broad.mit.edu	37	chr22	36689461	36689461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcccggaaggaattcttctCgtcctccacctgcttgagct	8	15	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:36689461C>T	uc003apg.2	-	30	4240	c.4009G>A	c.(4009-4011)GAG>AAG	p.E1337K		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1337	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GAATTCTTCTCGTCCTCCACC	0.622			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				T	36689461	C	T	36689461	3	4	20	1	0	0	0	0	1	0	0	0	10042	893	31	1	1921	1	MYH9	22	36689461	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	903532	36689461	14615105	1940	19611											
MYH9	4627	broad.mit.edu	37	chr22	36695071	36695071	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaactcagctattctgtcTtccagcagtttcttttcctg	7	11	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:36695071T>C	uc003apg.2	-	24	3225	c.2994A>G	c.(2992-2994)GAA>GAG	p.E998E		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	998	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CTATTCTGTCTTCCAGCAGTT	0.498			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				C	36695071	T	C	36695071	2	2	20	1	0	0	0	0	0	0	0	1	10042	1606	56	3		3	MYH9	22	36695071	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	5610	36695071	14609495	1941	19612											
MYH9	4627	broad.mit.edu	37	chr22	36714301	36714302	+	Missense_Mutation	DNP	CG	CG	TA													aatcccgtcccaccttgatgCgcggggtgaggattcctctg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:36714301_36714302CG>TA	uc003apg.2	-	11	1408_1409	c.1177_1178CG>TA	c.(1177-1179)CGC>TAC	p.R393Y	MYH9_uc003aph.1_Missense_Mutation_p.R257Y	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	393	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CACCTTGATGCGCGGGGTGAGG	0.54			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				TA	36714302	CG	TA	36714301	3	4	20	1	0	0	0	0	1	0	0	0	10042	768	27	1	4828	1	MYH9	22	36714301	Missense_Mutation	DNP	CG	TCGA-BR-4362-01A-01D-1158-08	19230	36714301	14590265	1942	19613											
ELFN2	114794	broad.mit.edu	37	chr22	37769252	37769252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtggtgcttcttgtaggGccggaagcgctcccagatct	14	12	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:37769252G>A	uc003asq.3	-	3	3109	c.2323C>T	c.(2323-2325)CCC>TCC	p.P775S		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	775	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					TTCTTGTAGGGCCGGAAGCGC	0.612													A	37769252	G	A	37769252	3	1	20	1	0	0	0	0	1	0	0	0	5058	1203	42	2	143	2	ELFN2	22	37769252	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1054951	37769252	13535314	1943	19614											
ANKRD54	129138	broad.mit.edu	37	chr22	38228694	38228694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcagaggtcatccaggcGttctcgctgctcatgttgcc	13	12	3	1	rs144561541		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:38228694G>A	uc003auc.2	-	7	836	c.778C>T	c.(778-780)CGC>TGC	p.R260C	ANKRD54_uc003aud.2_Missense_Mutation_p.R137C	NM_138797	NP_620152	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	260											0	Melanoma(58;0.045)					TCATCCAGGCGTTCTCGCTGC	0.612													A	38228694	G	A	38228694	3	1	20	1	0	0	0	0	1	0	0	0	680	1145	40	1	132	1	ANKRD54	22	38228694	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	459442	38228694	13075872	1944	19615											
MGAT3	4248	broad.mit.edu	37	chr22	39884545	39884545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagacagtatgagaaccGcaccggccacatcctggtgc	10	14	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:39884545G>A	uc003axv.3	+	2	1432	c.1193G>A	c.(1192-1194)CGC>CAC	p.R398H	MGAT3_uc010gxy.2_Missense_Mutation_p.R398H	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	398	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					TATGAGAACCGCACCGGCCAC	0.642													A	39884545	G	A	39884545	3	1	20	1	0	0	0	0	1	0	0	0	9544	1087	38	1	1195	1	MGAT3	22	39884545	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1655851	39884545	11420021	1945	19616											
SMCR7L	54471	broad.mit.edu	37	chr22	39909860	39909860	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatgagcgtgacaaacatctCttcattgacttcctgccatc	6	12	2	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:39909860C>T	uc003axx.2	+	6	1422	c.924C>T	c.(922-924)CTC>CTT	p.L308L	SMCR7L_uc003axw.2_Silent_p.L308L|SMCR7L_uc010gxz.1_Silent_p.L130L|SMCR7L_uc003axy.2_Silent_p.L130L	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	308						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)					ACAAACATCTCTTCATTGACT	0.587											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	39909860	C	T	39909860	2	4	20	1	0	0	0	0	0	0	0	1	14791	900	32	4		4	SMCR7L	22	39909860	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	25315	39909860	11394706	1946	19617											
TNRC6B	23112	broad.mit.edu	37	chr22	40681767	40681767	+	Frame_Shift_Del	DEL	C	C	-													agtgcctccccagtttatttCcccccaggtaagcaatttta							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:40681766_40681766TC>T	uc011aor.2	+	11	3911	c.3700_3700TC>T	c.(3700-3702)tccfs	p.S1234fs	TNRC6B_uc003aym.3_Frame_Shift_Del_p.S430fs|TNRC6B_uc003ayn.4_Frame_Shift_Del_p.S1124fs|TNRC6B_uc003ayo.3_Frame_Shift_Del_p.S981fs	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1234					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						CCAGTTTATTTCCCCCCAGGT	0.453													-	40681767	C	-	40681767	7	5	20	1	0	1	0	1	0	0	0	0	16338	855	30	0	3868	0	TNRC6B	22	40681767	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	771907	40681767	10622799	1947	19618											
ADSL	158	broad.mit.edu	37	chr22	40756478	40756478	+	Frame_Shift_Del	DEL	G	G	-													ctgtctgtgctggctagcttGggggcatcagtgcacaaggt							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:40756477_40756477TG>T	uc003ayp.4	+	6	832	c.773_773TG>T	c.(772-774)ttgfs	p.L258fs	ADSL_uc003ays.4_Frame_Shift_Del_p.L258fs|ADSL_uc010gyb.1_Non-coding_Transcript	NM_000026	NP_000017	P30566	PUR8_HUMAN	Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA.	258					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CTGGCTAGCTTGGGGGCATCA	0.478													-	40756478	G	-	40756478	7	5	20	1	0	1	0	1	0	0	0	0	346	1339	47	0	800	0	ADSL	22	40756478	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	74711	40756478	10548088	1948	19619											
SGSM3	27352	broad.mit.edu	37	chr22	40804113	40804113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtggaagtcctggatgagCgcagcaaagaggtgaggggg	19	6	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:40804113C>T	uc003ayu.1	+	15	1827	c.1618C>T	c.(1618-1620)CGC>TGC	p.R540C	SGSM3_uc011aos.1_Missense_Mutation_p.R473C|SGSM3_uc011aot.1_Missense_Mutation_p.R477C|SGSM3_uc010gyd.1_Missense_Mutation_p.R611C	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	540					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2						CCTGGATGAGCGCAGCAAAGA	0.632													T	40804113	C	T	40804113	3	4	20	1	0	0	0	0	1	0	0	0	14224	768	27	1	1672	1	SGSM3	22	40804113	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	47635	40804113	10500453	1949	19620											
MKL1	57591	broad.mit.edu	37	chr22	40816542	40816542	+	Frame_Shift_Del	DEL	G	G	-													tagtggagaggctgcgtactGggggggtcccgctgcttccc					rs34028511		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:40816541_40816541TG>T	uc003ayv.1	-	7	1128	c.921_921CA>A	c.(919-921)ccafs	p.P307fs	MKL1_uc010gyf.1_Frame_Shift_Del_p.P257fs|MKL1_uc003ayw.1_Frame_Shift_Del_p.P307fs|MKL1_uc010gye.1_Frame_Shift_Del_p.P307fs	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	307					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	p.V308fs*9(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGCTGCGTACTGGGGGGGTCC	0.657			T	RBM15	acute megakaryocytic leukemia								-	40816542	G	-	40816542	7	5	20	1	0	1	0	1	0	0	0	0	9601	1348	47	0	1895	0	MKL1	22	40816542	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	12429	40816542	10488024	1950	19621											
SEPT3	55964	broad.mit.edu	37	chr22	42390663	42390663	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggaagtgacacacaacaTccactatgagacttacaggg	9	10	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:42390663T>C	uc003bbr.3	+	10	1094	c.956T>C	c.(955-957)ATC>ACC	p.I319T	WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Missense_Mutation_p.I319T|SEPT3_uc010gyr.2_Missense_Mutation_p.I255T|SEPT3_uc011apj.1_Missense_Mutation_p.I255T|SEPT3_uc010gys.2_Missense_Mutation_p.I99T	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN	septin 3 isoform A	319					cell cycle|cytokinesis	cell junction|septin complex	GTP binding				0						ACACACAACATCCACTATGAG	0.567													C	42390663	T	C	42390663	3	2	20	1	0	0	0	0	1	0	0	0	14065	1435	50	3	994	3	SEPT3	22	42390663	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1574121	42390663	8913903	1951	19622											
TCF20	6942	broad.mit.edu	37	chr22	42609771	42609772	+	Frame_Shift_Ins	INS	-	-	T													atctaatgactctgccatagINSgggacttcagctgttcttca							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:42609770_42609771A>AT	uc003bcj.1	-	0	1675_1676	c.1541_1542T>AT	c.(1540-1542)cctfs	p.P514fs	TCF20_uc003bck.1_Frame_Shift_Ins_p.P514fs	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ACTCTGCCATAGGGGACTTCAG	0.53													T	42609772	-	T	42609771	7	5	20	1	0	1	1	0	0	0	0	0	15687	1000	35	0	4379	0	TCF20	22	42609771	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	219108	42609771	8694795	1952	19623											
TCF20	6942	broad.mit.edu	37	chr22	42610776	42610777	+	In_Frame_Ins	INS	-	-	TGC													ttgtctcaactgctggacttINSgctgctgctgctgctggctg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:42610775_42610776T>TTGC	uc003bcj.1	-	0	670_671	c.536_537A>GCAA	c.(535-537)caa>cGCAA	p.Q179R	TCF20_uc003bck.1_In_Frame_Ins_p.Q179R	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	179	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ACTGCTGGACTTGCTGCTGCTG	0.569													TGC	42610777	-	TGC	42610776	7	5	20	1	0	1	1	0	0	0	0	0	15687	1812	63	0	5384	0	TCF20	22	42610776	In_Frame_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	1005	42610776	8693790	1953	19624											
ATXN10	25814	broad.mit.edu	37	chr22	46136420	46136420	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaagataaccaagacaaggTaagaggatttcttagtatgt	9	4	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:46136420T>C	uc003bgm.1	+	9	1430	c.1173_splice	c.e9+2	p.K391_splice	ATXN10_uc011aqt.1_Splice_Site_p.K327_splice|ATXN10_uc003bgn.1_Splice_Site_p.K202_splice	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	ataxin 10						cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				ovary(1)|kidney(1)	2		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CAAGACAAGGTAAGAGGATTT	0.378													C	46136420	T	C	46136420	5	2	20	1	0	0	0	0	0	0	1	0	1210	1652	57	3	1209	3	ATXN10	22	46136420	Splice_Site	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3525644	46136420	5168146	1954	19625											
PPARA	5465	broad.mit.edu	37	chr22	46611192	46611192	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgcggggacaaggcctcaGgctatcattacggagtccac	12	12	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:46611192G>T	uc003bgw.1	+	5	597	c.331G>T	c.(331-333)GGC>TGC	p.G111C	PPARA_uc003bgx.1_Missense_Mutation_p.G111C|PPARA_uc010hab.1_Missense_Mutation_p.G111C|PPARA_uc003bha.2_Missense_Mutation_p.G111C|PPARA_uc003bhb.1_Missense_Mutation_p.G111C|PPARA_uc010hac.1_Translation_Start_Site	NM_005036	NP_005027	Q07869	PPARA_HUMAN	peroxisome proliferative activated receptor,	111	Nuclear receptor.|NR C4-type.				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CAAGGCCTCAGGCTATCATTA	0.572													T	46611192	G	T	46611192	3	4	20	1	0	0	0	0	1	0	0	0	12297	1000	35	5	337	5	PPARA	22	46611192	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	474772	46611192	4693374	1955	19626											
PKDREJ	10343	broad.mit.edu	37	chr22	46655432	46655432	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtggatggcttaaacaatgcAcgtcgctggtactcacagtt	11	9	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:46655432A>T	uc003bhh.2	-	1	3788	c.3788T>A	c.(3787-3789)GTG>GAG	p.V1263E		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1263	Cytoplasmic (Potential).|PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TAAACAATGCACGTCGCTGGT	0.468													T	46655432	A	T	46655432	3	4	20	1	0	0	0	0	1	0	0	0	11970	159	6	5	2977	5	PKDREJ	22	46655432	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	44240	46655432	4649134	1956	19627											
CELSR1	9620	broad.mit.edu	37	chr22	46793716	46793716	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgttcagggtggcgacGttggtgggcgtcccccccat	14	12	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:46793716G>A	uc003bhw.1	-	12	5556	c.5556C>T	c.(5554-5556)AAC>AAT	p.N1852N	CELSR1_uc011arc.1_Silent_p.N173N	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1852	Extracellular (Potential).|Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGGTGGCGACGTTGGTGGGCG	0.597													A	46793716	G	A	46793716	2	1	20	1	0	0	0	0	0	0	0	1	3221	1136	40	1		1	CELSR1	22	46793716	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	138284	46793716	4510850	1957	19628											
TBC1D22A	25771	broad.mit.edu	37	chr22	47308004	47308004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgttcatatgggcgatccGccacccagccagtggatacg	11	13	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:47308004G>A	uc003bib.2	+	8	1070	c.935G>A	c.(934-936)CGC>CAC	p.R312H	TBC1D22A_uc010haf.2_Missense_Mutation_p.R282H|TBC1D22A_uc003bic.2_Missense_Mutation_p.R253H|TBC1D22A_uc003bie.2_Missense_Mutation_p.R234H|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.R265H	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	312	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TGGGCGATCCGCCACCCAGCC	0.383													A	47308004	G	A	47308004	3	1	20	1	0	0	0	0	1	0	0	0	15608	1087	38	1	965	1	TBC1D22A	22	47308004	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	514288	47308004	3996562	1958	19629											
BRD1	23774	broad.mit.edu	37	chr22	50169717	50169717	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgccgggtaggaggggTagccgctgcacttggcccac	16	13	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:50169717T>C	uc003biv.2	-	10	3306	c.2819A>G	c.(2818-2820)TAC>TGC	p.Y940C	BRD1_uc011arf.1_Missense_Mutation_p.Y666C|BRD1_uc011arg.1_Missense_Mutation_p.Y989C|BRD1_uc011arh.1_Missense_Mutation_p.Y940C|BRD1_uc003biu.3_Missense_Mutation_p.Y1071C	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	940	PWWP.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTAGGAGGGGTAGCCGCTGCA	0.682													C	50169717	T	C	50169717	3	2	20	1	0	0	0	0	1	0	0	0	1501	1638	57	3	369	3	BRD1	22	50169717	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2861713	50169717	1134849	1959	19630											
BRD1	23774	broad.mit.edu	37	chr22	50197979	50197979	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaactgcttcttccgctgaAtggccacctgattcgcaatc	7	14	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:50197979A>G	uc003biv.2	-	2	1884	c.1397T>C	c.(1396-1398)ATT>ACT	p.I466T	BRD1_uc011arf.1_Missense_Mutation_p.I61T|BRD1_uc011arg.1_Missense_Mutation_p.I520T|BRD1_uc011arh.1_Missense_Mutation_p.I466T|BRD1_uc003biu.3_Missense_Mutation_p.I466T	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	466					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTTCCGCTGAATGGCCACCTG	0.507													G	50197979	A	G	50197979	3	3	20	1	0	0	0	0	1	0	0	0	1501	101	4	3	1823	3	BRD1	22	50197979	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	28262	50197979	1106587	1960	19631											
ZBED4	9889	broad.mit.edu	37	chr22	50277790	50277790	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagttgtctcatgaggcaCgtgaggcgcgcacacccgac	12	14	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:50277790C>T	uc003bix.2	+	2	950	c.480C>T	c.(478-480)CAC>CAT	p.H160H		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	160	BED-type 1.					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TCATGAGGCACGTGAGGCGCG	0.547													T	50277790	C	T	50277790	2	4	20	1	0	0	0	0	0	0	0	1	17517	535	19	1		1	ZBED4	22	50277790	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	79811	50277790	1026776	1961	19632											
TTLL8	164714	broad.mit.edu	37	chr22	50470360	50470360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaccttcatggcgtgggCgatggccttcttcatggacg	14	12	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:50470360C>T	uc011ark.1	-	11	1462	c.1462G>A	c.(1462-1464)GCC>ACC	p.A488T		NM_001080447	NP_001073916			tubulin tyrosine ligase-like family, member 8											ovary(2)	2		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		ATGGCGTGGGCGATGGCCTTC	0.637													T	50470360	C	T	50470360	3	4	20	1	0	0	0	0	1	0	0	0	16730	768	27	1	1057	1	TTLL8	22	50470360	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	192570	50470360	834206	1962	19633											
SELO	83642	broad.mit.edu	37	chr22	50655450	50655450	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggacgctgccgcctggCaggctgagcacgtgcgcgtg	18	13	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:50655450C>T	uc011arr.1	+	8	1796	c.1738C>T	c.(1738-1740)CAG>TAG	p.Q580*	SELO_uc010hap.2_Nonsense_Mutation_p.Q391*|SELO_uc003bjy.2_Nonsense_Mutation_p.Q260*|SELO_uc003bjz.2_Nonsense_Mutation_p.Q331*	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN	selenoprotein O	580											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)		TGCCGCCTGGCAGGCTGAGCA	0.642													T	50655450	C	T	50655450	4	4	20	1	0	0	0	0	0	1	0	0	14018	711	25	2	1768	2	SELO	22	50655450	Nonsense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	185090	50655450	649116	1963	19634											
PLXNB2	23654	broad.mit.edu	37	chr22	50714358	50714358	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtattggtagagctggtggAgtgccacgagggtgttcaag	17	5	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:50714358A>G	uc003bkv.3	-	36	5478	c.5372T>C	c.(5371-5373)CTC>CCC	p.L1791P	PLXNB2_uc003bkt.1_Missense_Mutation_p.L583P|PLXNB2_uc003bku.1_Missense_Mutation_p.L776P	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1791	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAGCTGGTGGAGTGCCACGAG	0.672											OREG0026679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	50714358	A	G	50714358	3	3	20	1	0	0	0	0	1	0	0	0	12124	304	11	3	152	3	PLXNB2	22	50714358	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	58908	50714358	590208	1964	19635											
PLXNB2	23654	broad.mit.edu	37	chr22	50717305	50717305	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caggaccacgctgtctggccTgggccagcaggagcagggct	16	13	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:50717305T>A	uc003bkv.3	-	28	4631	c.4525A>T	c.(4525-4527)AGG>TGG	p.R1509W	PLXNB2_uc003bkt.1_Missense_Mutation_p.R301W|PLXNB2_uc003bku.1_Missense_Mutation_p.R494W	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1509	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGTCTGGCCTGGGCCAGCAG	0.662													A	50717305	T	A	50717305	3	1	20	1	0	0	0	0	1	0	0	0	12124	1579	55	5	1031	5	PLXNB2	22	50717305	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2947	50717305	587261	1965	19636											
SBF1	6305	broad.mit.edu	37	chr22	50898756	50898756	+	Frame_Shift_Del	DEL	G	G	-													tggccccggtgctcccagctGggggggttgtacttcttgcg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:50898755_50898755TG>T	uc003blh.3	-	24	3424	c.3229_3229CA>A	c.(3229-3231)agcfs	p.S1077fs	SBF1_uc011arx.2_Frame_Shift_Del_p.S741fs	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1077					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTCCCAGCTGGGGGGGTTG	0.647													-	50898756	G	-	50898756	7	5	20	1	0	1	0	1	0	0	0	0	13858	1335	47	0	2521	0	SBF1	22	50898756	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	181451	50898756	405810	1966	19637											
ACR	49	broad.mit.edu	37	chr22	51183154	51183154	+	Frame_Shift_Del	DEL	G	G	-													ggtcgtgggaatcacaagctGgggggtaggctgtgcccgtg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:51183154delG	uc003bnh.3	+	5	797	c.785delG	c.(784-786)TGGfs	p.W262fs		NM_001097	NP_001088	P10323	ACRO_HUMAN	acrosin precursor	262	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding				0		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		ATCACAAGCTGGGGGGTAGGC	0.587													-	51183154	G	-	51183154	7	5	20	1	0	1	0	1	0	0	0	0	169	1357	47	0	803	0	ACR	22	51183154	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	284398	51183154	121412	1967	19638											
PPP2R3B	28227	broad.mit.edu	37	chrX	302052	302052	+	Frame_Shift_Del	DEL	T	T	-													aggaacccacctggtcggtgTttttttgtcttcctcagaga							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:302051_302051GT>G	uc004cpg.3	-	8	1430	c.1166_1166AC>C	c.(1165-1167)acafs	p.T389fs	PPP2R3B_uc004cpf.3_5'UTR	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA.	389	EF-hand.				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGGTCGGTGTTTTTTTGTC	0.562													-	302052	T	-	302052	7	5	20	1	0	1	0	1	0	0	0	0	12389	1725	60	0	582	0	PPP2R3B	23	302052	Frame_Shift_Del	DEL	T	TCGA-BR-4362-01A-01D-1158-08		302052	154968508	1968	19639											
CLCN4	1183	broad.mit.edu	37	chrX	10176320	10176320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcgcctggtgcaggaggcGcaagaccaccaggctgggga	16	12	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:10176320G>A	uc004csy.3	+	9	1509	c.1079G>A	c.(1078-1080)CGC>CAC	p.R360H	CLCN4_uc011mid.1_Missense_Mutation_p.R266H	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	360						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						TGCAGGAGGCGCAAGACCACC	0.597													A	10176320	G	A	10176320	3	1	20	1	0	0	0	0	1	0	0	0	3465	1087	38	1	1105	1	CLCN4	23	10176320	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	9874268	10176320	145094240	1969	19640											
FANCB	2187	broad.mit.edu	37	chrX	14883542	14883542	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctctttatctgcaaaatTtcctttagacaactggaaaa	6	8	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:14883542T>G	uc004cwg.1	-	3	359	c.91A>C	c.(91-93)AAT>CAT	p.N31H	FANCB_uc004cwh.1_Missense_Mutation_p.N31H	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B	31					DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)					TCTGCAAAATTTCCTTTAGAC	0.363								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				G	14883542	T	G	14883542	3	3	20	1	0	0	0	0	1	0	0	0	5663	1841	64	5	2520	5	FANCB	23	14883542	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	4707222	14883542	140387018	1970	19641											
NHS	4810	broad.mit.edu	37	chrX	17744772	17744772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaaaccaaaggcaaagcCgaccccacctaaacgtagct	8	14	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:17744772C>T	uc004cxx.2	+	6	2821	c.2483C>T	c.(2482-2484)CCG>CTG	p.P828L	NHS_uc011mix.1_Missense_Mutation_p.P849L|NHS_uc004cxy.2_Missense_Mutation_p.P672L|NHS_uc004cxz.2_Missense_Mutation_p.P651L|NHS_uc004cya.2_Missense_Mutation_p.P551L	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	828						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					AAGGCAAAGCCGACCCCACCT	0.502													T	17744772	C	T	17744772	3	4	20	1	0	0	0	0	1	0	0	0	10411	652	23	1	2610	1	NHS	23	17744772	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2861230	17744772	137525788	1971	19642											
NHS	4810	broad.mit.edu	37	chrX	17745811	17745811	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatctcgtcaatactccacTgaagacaccatactgtcctt	5	13	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:17745811T>C	uc004cxx.2	+	6	3860	c.3522T>C	c.(3520-3522)ACT>ACC	p.T1174T	NHS_uc011mix.1_Silent_p.T1195T|NHS_uc004cxy.2_Silent_p.T1018T|NHS_uc004cxz.2_Silent_p.T997T|NHS_uc004cya.2_Silent_p.T897T	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	1174						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					AATACTCCACTGAAGACACCA	0.403													C	17745811	T	C	17745811	2	2	20	1	0	0	0	0	0	0	0	1	10411	1567	55	3		3	NHS	23	17745811	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1039	17745811	137524749	1972	19643											
SH3KBP1	30011	broad.mit.edu	37	chrX	19560215	19560215	+	Frame_Shift_Del	DEL	G	G	-													tgttcccaaagaggatgacaGgggggagggcgccgctgagg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:19560214_19560214AG>A	uc004czm.3	-	15	2037	c.1721_1721CT>T	c.(1720-1722)ctgfs	p.L574fs	SH3KBP1_uc011mje.2_Frame_Shift_Del_p.L313fs|SH3KBP1_uc011mjf.2_Frame_Shift_Del_p.L336fs|SH3KBP1_uc004czl.3_Frame_Shift_Del_p.L537fs|SH3KBP1_uc010nfm.3_Frame_Shift_Del_p.L19fs	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	574					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						AGAGGATGACAGGGGGGAGGG	0.652													-	19560215	G	-	19560215	7	5	20	1	0	1	0	1	0	0	0	0	14255	991	35	0	289	0	SH3KBP1	23	19560215	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	1814404	19560215	135710345	1973	19644											
SH3KBP1	30011	broad.mit.edu	37	chrX	19587236	19587236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccaatgtcattgctgcGgtccgagagatctttgtcca	9	12	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:19587236G>A	uc004czm.2	-	13	1685	c.1369C>T	c.(1369-1371)CGC>TGC	p.R457C	SH3KBP1_uc011mje.1_Missense_Mutation_p.R196C|SH3KBP1_uc011mjf.1_Missense_Mutation_p.R219C|SH3KBP1_uc004czl.2_Missense_Mutation_p.R420C|SH3KBP1_uc010nfm.2_5'UTR	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	457					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0						TCATTGCTGCGGTCCGAGAGA	0.483													A	19587236	G	A	19587236	3	1	20	1	0	0	0	0	1	0	0	0	14255	1116	39	1	652	1	SH3KBP1	23	19587236	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	27021	19587236	135683324	1974	19645											
SH3KBP1	30011	broad.mit.edu	37	chrX	19606847	19606847	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaattggtcttaggtggCcgaggcttttttggcggtat	15	5	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:19606847C>T	uc004czm.2	-	12	1528	c.1212G>A	c.(1210-1212)CGG>CGA	p.R404R	SH3KBP1_uc011mje.1_Silent_p.R143R|SH3KBP1_uc011mjf.1_Silent_p.R166R|SH3KBP1_uc004czl.2_Silent_p.R367R	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	404	Pro-rich.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0						TCTTAGGTGGCCGAGGCTTTT	0.532													T	19606847	C	T	19606847	2	4	20	1	0	0	0	0	0	0	0	1	14255	726	26	2		2	SH3KBP1	23	19606847	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	19611	19606847	135663713	1975	19646											
MAP7D2	256714	broad.mit.edu	37	chrX	20082870	20082870	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatttttctctttcttctcGtctttctttggccaatctct	3	12	6	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:20082870G>A	uc004czr.1	-	2	203	c.184C>T	c.(184-186)CGA>TGA	p.R62*	MAP7D2_uc011mji.1_Nonsense_Mutation_p.R18*|MAP7D2_uc010nfo.1_Nonsense_Mutation_p.R62*|MAP7D2_uc011mjj.1_Nonsense_Mutation_p.R62*|MAP7D2_uc004czs.1_Nonsense_Mutation_p.R18*	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	62	Potential.									ovary(2)|breast(1)	3						CTTTCTTCTCGTCTTTCTTTG	0.398													A	20082870	G	A	20082870	4	1	20	1	0	0	0	0	0	1	0	0	9268	1153	40	1	2197	1	MAP7D2	23	20082870	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	476023	20082870	135187690	1976	19647											
CNKSR2	22866	broad.mit.edu	37	chrX	21670629	21670629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcattcatacattgaaaCgcatgtctaaatgtattctg	5	9	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:21670629C>T	uc004czx.1	+	22	3131	c.3095C>T	c.(3094-3096)ACG>ATG	p.T1032M	CNKSR2_uc011mjo.1_Missense_Mutation_p.T1002M	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	1032					regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						TACATTGAAACGCATGTCTAA	0.378													T	21670629	C	T	21670629	3	4	20	1	0	0	0	0	1	0	0	0	3607	536	19	1	3190	1	CNKSR2	23	21670629	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1587759	21670629	133599931	1977	19648											
ZNF645	158506	broad.mit.edu	37	chrX	22291373	22291373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaatttatatgacaaagtcGgatataaagtatgtccgcgc	8	7	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:22291373G>A	uc004dai.1	+	1	314	c.265G>A	c.(265-267)GGA>AGA	p.G89R		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	89	RING-type.					intracellular	zinc ion binding			lung(1)|pancreas(1)	2						TGACAAAGTCGGATATAAAGT	0.403													A	22291373	G	A	22291373	3	1	20	1	0	0	0	0	1	0	0	0	18058	1117	39	1	267	1	ZNF645	23	22291373	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	620744	22291373	132979187	1978	19649											
ACOT9	23597	broad.mit.edu	37	chrX	23748967	23748967	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagtcaaatatttctctcGtaattcaggctcactgccca	5	12	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:23748967G>A	uc004dap.2	-	4	447	c.301C>T	c.(301-303)CGA>TGA	p.R101*	ACOT9_uc004dao.2_Nonsense_Mutation_p.R110*|ACOT9_uc004daq.2_Nonsense_Mutation_p.R59*|ACOT9_uc004dar.2_Nonsense_Mutation_p.R41*|ACOT9_uc011mjt.1_RNA|ACOT9_uc004das.2_Nonsense_Mutation_p.R41*|ACOT9_uc004dat.1_Nonsense_Mutation_p.R101*	NM_001033583	NP_001028755	Q9Y305	ACOT9_HUMAN	acyl-Coenzyme A thioesterase 2, mitochondrial	101					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(2)|pancreas(1)	3						TATTTCTCTCGTAATTCAGGC	0.333													A	23748967	G	A	23748967	4	1	20	1	0	0	0	0	0	1	0	0	157	1153	40	1	1066	1	ACOT9	23	23748967	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1457594	23748967	131521593	1979	19650											
TAB3	257397	broad.mit.edu	37	chrX	30870905	30870905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcacttaccgtagggatcGcagtggtgcagctgactctt	12	10	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:30870905G>A	uc004dcj.2	-	7	2363	c.1700C>T	c.(1699-1701)GCG>GTG	p.A567V	TAB3_uc004dck.2_Missense_Mutation_p.A567V|TAB3_uc010ngl.2_Missense_Mutation_p.A567V	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	567					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			ovary(1)	1						CGTAGGGATCGCAGTGGTGCA	0.463													A	30870905	G	A	30870905	3	1	20	1	0	0	0	0	1	0	0	0	15494	1087	38	1	458	1	TAB3	23	30870905	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	7121938	30870905	124399655	1980	19651											
DMD	1756	broad.mit.edu	37	chrX	31496309	31496309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgatcacctcagcttggcGcagcttgaggtccagctcat	10	13	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:31496309G>A	uc004dda.1	-	59	9095	c.8851C>T	c.(8851-8853)CGC>TGC	p.R2951C	DMD_uc004dcq.1_Missense_Mutation_p.R222C|DMD_uc004dcr.1_Missense_Mutation_p.R491C|DMD_uc004dcs.1_Missense_Mutation_p.R491C|DMD_uc004dct.1_Missense_Mutation_p.R491C|DMD_uc004dcu.1_Missense_Mutation_p.R491C|DMD_uc004dcv.1_Missense_Mutation_p.R491C|DMD_uc004dcw.2_Missense_Mutation_p.R1607C|DMD_uc004dcx.2_Missense_Mutation_p.R1610C|DMD_uc004dcz.2_Missense_Mutation_p.R2828C|DMD_uc004dcy.1_Missense_Mutation_p.R2947C|DMD_uc004ddb.1_Missense_Mutation_p.R2943C	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2951	Spectrin 22.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAGCTTGGCGCAGCTTGAGG	0.537													A	31496309	G	A	31496309	3	1	20	1	0	0	0	0	1	0	0	0	4580	1087	38	1	2404	1	DMD	23	31496309	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	625404	31496309	123774251	1981	19652											
FAM47B	170062	broad.mit.edu	37	chrX	34961163	34961163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagatacgcttgtttgtcGccgtgacgagtttttactcc	10	9	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:34961163G>A	uc004ddi.1	+	1	233	c.215G>A	c.(214-216)CGC>CAC	p.R72H		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	72										ovary(3)|breast(1)	4						CTTGTTTGTCGCCGTGACGAG	0.527													A	34961163	G	A	34961163	3	1	20	1	0	0	0	0	1	0	0	0	5570	1087	38	1	217	1	FAM47B	23	34961163	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3464854	34961163	120309397	1982	19653											
FAM47B	170062	broad.mit.edu	37	chrX	34961839	34961839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtatctcatctccacccGgagcctcctgagactggagt	10	15	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:34961839G>A	uc004ddi.1	+	1	909	c.891G>A	c.(889-891)CCG>CCA	p.P297P		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	297	Pro-rich.									ovary(3)|breast(1)	4						ATCTCCACCCGGAGCCTCCTG	0.632													A	34961839	G	A	34961839	2	1	20	1	0	0	0	0	0	0	0	1	5570	1103	39	1		1	FAM47B	23	34961839	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	676	34961839	120308721	1983	19654											
LANCL3	347404	broad.mit.edu	37	chrX	37526606	37526606	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctggacacatgtattcggTgtggggaactcacatggcag	13	9	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:37526606T>C	uc011mkd.1	+	4	1269	c.967T>C	c.(967-969)TGT>CGT	p.C323R	LANCL3_uc004ddp.1_Missense_Mutation_p.C323R	NM_198511	NP_940913	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3	323							catalytic activity				0						ATGTATTCGGTGTGGGGAACT	0.498													C	37526606	T	C	37526606	3	2	20	1	0	0	0	0	1	0	0	0	8622	1696	59	3	981	3	LANCL3	23	37526606	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	2564767	37526606	117743954	1984	19655											
XK	7504	broad.mit.edu	37	chrX	37587585	37587585	+	Frame_Shift_Del	DEL	A	A	-													ttgctgggcctgcaggcagcAaaaaccctgtgagccgatag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:37587584_37587584CA>C	uc004ddq.3	+	2	1286	c.1204_1204CA>C	c.(1204-1206)caafs	p.Q402fs		NM_021083	NP_066569	P51811	XK_HUMAN	Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.	402					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				CTGCAGGCAGCAAAAACCCTG	0.468													-	37587585	A	-	37587585	7	5	20	1	0	1	0	1	0	0	0	0	17428	130	5	0	1215	0	XK	23	37587585	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	60979	37587585	117682975	1985	19656											
TSPAN7	7102	broad.mit.edu	37	chrX	38535094	38535094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacacaatctgactgtggccGccaccaaagttaaccagaag	8	12	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:38535094G>A	uc004deg.3	+	5	646	c.577G>A	c.(577-579)GCC>ACC	p.A193T	TSPAN7_uc011mkj.1_Missense_Mutation_p.A219T|TSPAN7_uc011mkk.1_Missense_Mutation_p.A210T|TSPAN7_uc004deh.2_Missense_Mutation_p.A101T	NM_004615	NP_004606	P41732	TSN7_HUMAN	tetraspanin 7	193	Extracellular (Potential).				interspecies interaction between organisms	integral to plasma membrane				ovary(1)	1						GACTGTGGCCGCCACCAAAGT	0.517													A	38535094	G	A	38535094	3	1	20	1	0	0	0	0	1	0	0	0	16649	1087	38	1	595	1	TSPAN7	23	38535094	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	947509	38535094	116735466	1986	19657											
CASK	8573	broad.mit.edu	37	chrX	41519817	41519819	+	Splice_Site	DEL	GAG	GAG	-													ccactgccttggattcatctGaggaggaggaaaggaaaact							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:41519816_41519818TGAG>T	uc004dfk.4	-	3	280	c.154_splice	c.e3-1	p.M52_splice	CASK_uc004dfl.4_Splice_Site_p.M237_splice|CASK_uc004dfm.4_Splice_Site_p.M237_splice|CASK_uc004dfn.4_Splice_Site_p.M237_splice	NM_003688	NP_003679	O14936	CSKP_HUMAN	Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA.	237	Protein kinase.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						TGGATTCATCTGAGGAGGAGGAA	0.379													-	41519819	GAG	-	41519817	8	5	20	1	0	1	0	1	0	0	1	0	2665	1305	45	0		0	CASK	23	41519817	Splice_Site	DEL	GAG	TCGA-BR-4362-01A-01D-1158-08	2984723	41519817	113750743	1987	19658											
MAOA	4128	broad.mit.edu	37	chrX	43587520	43587520	+	Frame_Shift_Del	DEL	G	G	-													tgtggtatgtgaagcagtgcGggggcaccactcggatattc							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:43587519_43587519CG>C	uc004dfy.3	+	5	784	c.603_603CG>C	c.(601-603)tgcfs	p.C201fs	MAOA_uc011mkw.2_Frame_Shift_Del_p.C68fs	NM_000240	NP_000231	P21397	AOFA_HUMAN	Homo sapiens monoamine oxidase A (MAOA), nuclear gene encoding mitochondrial protein, mRNA.	201					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	TGAAGCAGTGCGGGGGCACCA	0.483													-	43587520	G	-	43587520	7	5	20	1	0	1	0	1	0	0	0	0	9225	1116	39	0	626	0	MAOA	23	43587520	Frame_Shift_Del	DEL	G	TCGA-BR-4362-01A-01D-1158-08	2067703	43587520	111683040	1988	19659											
RBM10	8241	broad.mit.edu	37	chrX	47045755	47045755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggcagcggcctgggccGcaagaagcagggcattgtaa	17	9	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:47045755G>A	uc004dhf.2	+	23	3015	c.2636G>A	c.(2635-2637)CGC>CAC	p.R879H	RBM10_uc004dhg.2_Missense_Mutation_p.R801H|RBM10_uc004dhh.2_Missense_Mutation_p.R878H|RBM10_uc010nhq.2_Missense_Mutation_p.R802H|RBM10_uc004dhi.2_Missense_Mutation_p.R944H	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	879	G-patch.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						GGCCTGGGCCGCAAGAAGCAG	0.632													A	47045755	G	A	47045755	3	1	20	1	0	0	0	0	1	0	0	0	13111	1087	38	1	2722	1	RBM10	23	47045755	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3458235	47045755	108224805	1989	19660											
ARAF	369	broad.mit.edu	37	chrX	47430411	47430411	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcggcccctcttcccccaGgtgggctgggtagggggctg	18	13	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:47430411G>T	uc011mlq.1	+	15	1819	c.1686G>T	c.(1684-1686)CAG>CAT	p.Q562H		NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	562	Protein kinase.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	TCTTCCCCCAGGTGGGCTGGG	0.592													T	47430411	G	T	47430411	3	4	20	1	0	0	0	0	1	0	0	0	837	1014	35	5	1740	5	ARAF	23	47430411	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	384656	47430411	107840149	1990	19661											
ZNF81	347344	broad.mit.edu	37	chrX	47774350	47774350	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttggaattaagccttcccAgaggagaatttctgggaaat	10	6	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:47774350A>G	uc010nhy.1	+	6	673	c.305A>G	c.(304-306)CAG>CGG	p.Q102R		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	102						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)				AAGCCTTCCCAGAGGAGAATT	0.338													G	47774350	A	G	47774350	3	3	20	1	0	0	0	0	1	0	0	0	18171	188	7	3	319	3	ZNF81	23	47774350	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	343939	47774350	107496210	1991	19662											
ZNF81	347344	broad.mit.edu	37	chrX	47774500	47774500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacaacaaacttctgagtcGcactactttcctcaataaga	4	12	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:47774500G>A	uc010nhy.1	+	6	823	c.455G>A	c.(454-456)CGC>CAC	p.R152H		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	152						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)				CTTCTGAGTCGCACTACTTTC	0.333													A	47774500	G	A	47774500	3	1	20	1	0	0	0	0	1	0	0	0	18171	1087	38	1	469	1	ZNF81	23	47774500	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	150	47774500	107496060	1992	19663											
ZNF630	57232	broad.mit.edu	37	chrX	47917969	47917969	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagggtttctccccagtgTgtcttctctgatatgtaatc	10	9	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:47917969T>C	uc004div.3	-	5	2114	c.1862A>G	c.(1861-1863)CAC>CGC	p.H621R	ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.H497R	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	zinc finger protein 630	621	C2H2-type 13; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|lung(1)	2						CTCCCCAGTGTGTCTTCTCTG	0.438													C	47917969	T	C	47917969	3	2	20	1	0	0	0	0	1	0	0	0	18051	1696	59	3	115	3	ZNF630	23	47917969	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	143469	47917969	107352591	1993	19664											
MAGIX	79917	broad.mit.edu	37	chrX	49019249	49019249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagccgcgcacagggggcGccgcgaaccctaaggggagc	18	13	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:49019249G>A	uc010nin.1	+	1	69	c.22G>A	c.(22-24)GCC>ACC	p.A8T	MAGIX_uc010nio.1_Missense_Mutation_p.A8T|MAGIX_uc004dmt.2_Missense_Mutation_p.A8T|MAGIX_uc004dmu.2_5'Flank|MAGIX_uc004dmw.2_5'Flank	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked isoform a	8											0						CACAGGGGGCGCCGCGAACCC	0.682													A	49019249	G	A	49019249	3	1	20	1	0	0	0	0	1	0	0	0	9193	1087	38	1	24	1	MAGIX	23	49019249	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1101280	49019249	106251311	1994	19665											
CLCN5	1184	broad.mit.edu	37	chrX	49837186	49837186	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacatgggccttaattcacAgtgtgagtgatgctttttcc	9	9	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:49837186A>G	uc004dos.1	+	3	396	c.148A>G	c.(148-150)AGT>GGT	p.S50G	CLCN5_uc004dor.1_Missense_Mutation_p.S120G|CLCN5_uc004doq.1_Missense_Mutation_p.S120G|CLCN5_uc004dot.1_Missense_Mutation_p.S50G	NM_000084	NP_000075	P51795	CLCN5_HUMAN	chloride channel 5 isoform b	50	Cytoplasmic (By similarity).				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			ovary(2)|lung(1)|central_nervous_system(1)	4	Ovarian(276;0.236)					CTTAATTCACAGTGTGAGTGA	0.363													G	49837186	A	G	49837186	3	3	20	1	0	0	0	0	1	0	0	0	3466	188	7	3	372	3	CLCN5	23	49837186	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	817937	49837186	105433374	1995	19666											
HUWE1	10075	broad.mit.edu	37	chrX	53674333	53674333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatggaactgtacagatgcCgggaaaagctgtactcaatg	11	8	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:53674333C>T	uc004dsp.2	-	6	731	c.329G>A	c.(328-330)CGG>CAG	p.R110Q		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	110					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GTACAGATGCCGGGAAAAGCT	0.438													T	53674333	C	T	53674333	3	4	20	1	0	0	0	0	1	0	0	0	7461	652	23	1	13111	1	HUWE1	23	53674333	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	3837147	53674333	101596227	1996	19667											
TSR2	90121	broad.mit.edu	37	chrX	54470968	54470968	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagatggctggaccattgtCcggagaaaaaaatgagtggg	15	5	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:54470968C>T	uc004dte.2	+	5	563	c.561C>T	c.(559-561)GTC>GTT	p.V187V	TSR2_uc004dtf.2_Silent_p.V92V	NM_058163	NP_477511	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog	187					rRNA processing		protein binding				0						GGACCATTGTCCGGAGAAAAA	0.483													T	54470968	C	T	54470968	2	4	20	1	0	0	0	0	0	0	0	1	16662	842	30	4		4	TSR2	23	54470968	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	796635	54470968	100799592	1997	19668											
GNL3L	54552	broad.mit.edu	37	chrX	54577458	54577458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcagccgcgcatgcagcGtgggagctgttcctggaatt	15	11	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:54577458G>A	uc004dth.1	+	10	977	c.838G>A	c.(838-840)GTG>ATG	p.V280M	GNL3L_uc004dti.2_RNA	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3	280	G.				ribosome biogenesis	nucleolus	GTP binding			ovary(1)	1						CGCATGCAGCGTGGGAGCTGT	0.557													A	54577458	G	A	54577458	3	1	20	1	0	0	0	0	1	0	0	0	6538	1145	40	1	872	1	GNL3L	23	54577458	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	106490	54577458	100693102	1998	19669											
MAGED2	10916	broad.mit.edu	37	chrX	54838668	54838668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccttagagcccactgatGcaggcatactgggaacgtaa	11	11	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:54838668G>A	uc004dtk.1	+	7	1163	c.1069G>A	c.(1069-1071)GCA>ACA	p.A357T	MAGED2_uc004dtl.1_Missense_Mutation_p.A357T|MAGED2_uc004dtm.1_Missense_Mutation_p.A272T|MAGED2_uc010nkc.1_Missense_Mutation_p.A357T|MAGED2_uc004dtn.1_Missense_Mutation_p.A357T|MAGED2_uc004dto.1_Missense_Mutation_p.A331T|SNORA11_uc004dtp.1_5'Flank	NM_177433	NP_803182	Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	357	MAGE.									ovary(2)|breast(1)	3						GCCCACTGATGCAGGCATACT	0.502													A	54838668	G	A	54838668	3	1	20	1	0	0	0	0	1	0	0	0	9184	1319	46	2	1091	2	MAGED2	23	54838668	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	261210	54838668	100431892	1999	19670											
ALAS2	212	broad.mit.edu	37	chrX	55051231	55051231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttcccatcctggagttccGacagcatgaagggacagtgg	12	11	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:55051231G>A	uc004dua.3	-	3	362	c.224C>T	c.(223-225)TCG>TTG	p.S75L	ALAS2_uc004dub.3_Missense_Mutation_p.S99L|ALAS2_uc004dud.3_Missense_Mutation_p.S75L	NM_000032	NP_000023	P22557	HEM0_HUMAN	5-aminolevulinate synthase 2 isoform a	75					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(1)	1					Glycine(DB00145)	CTGGAGTTCCGACAGCATGAA	0.468													A	55051231	G	A	55051231	3	1	20	1	0	0	0	0	1	0	0	0	485	1059	37	1	1575	1	ALAS2	23	55051231	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	212563	55051231	100219329	2000	19671											
RRAGB	10325	broad.mit.edu	37	chrX	55757835	55757835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattatttcactagccaacGggacaacatcttccgaaatg	6	10	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:55757835G>A	uc004dup.2	+	6	1067	c.416G>A	c.(415-417)CGG>CAG	p.R139Q	RRAGB_uc004duq.2_Missense_Mutation_p.R111Q	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B long isoform	139					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding				0						ACTAGCCAACGGGACAACATC	0.398													A	55757835	G	A	55757835	3	1	20	1	0	0	0	0	1	0	0	0	13673	1116	39	1	438	1	RRAGB	23	55757835	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	706604	55757835	99512725	2001	19672											
FAAH2	158584	broad.mit.edu	37	chrX	57474979	57474979	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggctttgttggaagaaaaGctcagatatagcaatgagaa	11	5	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:57474979G>T	uc004dvc.2	+	10	1400	c.1251G>T	c.(1249-1251)AAG>AAT	p.K417N		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	417						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			ovary(3)	3						TGGAAGAAAAGCTCAGATATA	0.348										HNSCC(52;0.14)			T	57474979	G	T	57474979	3	4	20	1	0	0	0	0	1	0	0	0	5354	962	34	5	1289	5	FAAH2	23	57474979	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	1717144	57474979	97795581	2002	19673											
FAM123B	139285	broad.mit.edu	37	chrX	63410310	63410310	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggccaatcataggcccctgGgggttcagtatagagggaaa	14	8	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:63410310G>T	uc004dvo.2	-	2	3130	c.2857C>A	c.(2857-2859)CCA>ACA	p.P953T		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	953	Pro-rich.				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						TAGGCCCCTGGGGGTTCAGTA	0.592													T	63410310	G	T	63410310	3	4	20	1	0	0	0	0	1	0	0	0	5423	1232	43	5	554	5	FAM123B	23	63410310	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	5935331	63410310	91860250	2003	19674											
ZC4H2	55906	broad.mit.edu	37	chrX	64140060	64140060	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctttcagtggcttatacTcatcatgcagcctccttgta	7	11	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:64140060T>C	uc004dvu.2	-	3	387	c.299A>G	c.(298-300)GAG>GGG	p.E100G	ZC4H2_uc004dvv.2_Missense_Mutation_p.E77G|ZC4H2_uc011mov.1_Missense_Mutation_p.E77G|ZC4H2_uc011mow.1_Missense_Mutation_p.E100G|ZC4H2_uc004dvw.1_Missense_Mutation_p.E100G	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	100	Potential.			E -> K (in Ref. 3; BAB14308).			metal ion binding|protein binding			ovary(1)	1						TGGCTTATACTCATCATGCAG	0.483													C	64140060	T	C	64140060	3	2	20	1	0	0	0	0	1	0	0	0	17575	1551	54	3	406	3	ZC4H2	23	64140060	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	729750	64140060	91130500	2004	19675											
ITGB1BP2	26548	broad.mit.edu	37	chrX	70523138	70523138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcctctgaagctgctgcCgctaaatatatcccaagccc	8	14	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:70523138C>T	uc004dzr.1	+	5	373	c.344C>T	c.(343-345)CCG>CTG	p.P115L	BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Missense_Mutation_p.P97L	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein 2	115					muscle organ development|signal transduction		SH3 domain binding			ovary(1)	1	Renal(35;0.156)					AAGCTGCTGCCGCTAAATATA	0.488													T	70523138	C	T	70523138	3	4	20	1	0	0	0	0	1	0	0	0	7892	652	23	1	362	1	ITGB1BP2	23	70523138	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	6383078	70523138	84747422	2005	19676											
ACRC	93953	broad.mit.edu	37	chrX	70823496	70823496	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggaacctccaatagttatTagtgatgatgacaatgacga	9	7	0	4			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:70823496T>C	uc004eae.2	+	8	870	c.369T>C	c.(367-369)ATT>ATC	p.I123I	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	123						nucleus				ovary(3)	3	Renal(35;0.156)					CAATAGTTATTAGTGATGATG	0.438													C	70823496	T	C	70823496	2	2	20	1	0	0	0	0	0	0	0	1	171	1742	61	3		3	ACRC	23	70823496	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	300358	70823496	84447064	2006	19677											
KIAA2022	340533	broad.mit.edu	37	chrX	73961039	73961039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggacctgccgtgaaaggGtactgcagtcccacttgatt	11	10	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:73961039G>A	uc004eby.2	-	3	3970	c.3353C>T	c.(3352-3354)ACC>ATC	p.T1118I		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1118					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						CCGTGAAAGGGTACTGCAGTC	0.448													A	73961039	G	A	73961039	3	1	20	1	0	0	0	0	1	0	0	0	8269	1261	44	4	1205	4	KIAA2022	23	73961039	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	3137543	73961039	81309521	2007	19678											
MAGT1	84061	broad.mit.edu	37	chrX	77112905	77112905	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaatctgctcagctgaaaaAccccgcacctgtaactcata	6	14	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:77112905A>C	uc004fof.2	-	4	638	c.576T>G	c.(574-576)GGT>GGG	p.G192G	MAGT1_uc004fog.3_Intron	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	160					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				upper_aerodigestive_tract(1)	1						CAGCTGAAAAACCCCGCACCT	0.438													C	77112905	A	C	77112905	2	2	20	1	0	0	0	0	0	0	0	1	9196	30	2	5		5	MAGT1	23	77112905	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	3151866	77112905	78157655	2008	19679											
ATP7A	538	broad.mit.edu	37	chrX	77244200	77244200	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctattgaaggaaaaattgggAaactgcaaggtgttcagcga	12	5	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:77244200A>T	uc004ecx.3	+	3	743	c.583A>T	c.(583-585)AAA>TAA	p.K195*	ATP7A_uc004ecw.2_Nonsense_Mutation_p.K195*	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	195	HMA 2.|Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						AAAAATTGGGAAACTGCAAGG	0.398													T	77244200	A	T	77244200	4	4	20	1	0	0	0	0	0	1	0	0	1190	247	9	5	589	5	ATP7A	23	77244200	Nonsense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	131295	77244200	78026360	2009	19680											
BRWD3	254065	broad.mit.edu	37	chrX	79932589	79932589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctggtttgtatgaatttgCtataatcatggtctccatct	8	7	4	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:79932589C>T	uc004edt.2	-	41	5191	c.4928G>A	c.(4927-4929)AGC>AAC	p.S1643N	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.S1239N|BRWD3_uc004edp.2_Missense_Mutation_p.S1472N|BRWD3_uc004edq.2_Missense_Mutation_p.S1239N|BRWD3_uc010nmj.1_Missense_Mutation_p.S1239N|BRWD3_uc004edr.2_Missense_Mutation_p.S1313N|BRWD3_uc004eds.2_Missense_Mutation_p.S1239N|BRWD3_uc004edu.2_Missense_Mutation_p.S1313N|BRWD3_uc004edv.2_Missense_Mutation_p.S1239N|BRWD3_uc004edw.2_Missense_Mutation_p.S1239N|BRWD3_uc004edx.2_Missense_Mutation_p.S1239N|BRWD3_uc004edy.2_Missense_Mutation_p.S1239N|BRWD3_uc004edz.2_Missense_Mutation_p.S1313N|BRWD3_uc004eea.2_Missense_Mutation_p.S1313N|BRWD3_uc004eeb.2_Missense_Mutation_p.S1239N|uc004edn.1_5'Flank	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1643										ovary(4)	4						TATGAATTTGCTATAATCATG	0.413													T	79932589	C	T	79932589	3	4	20	1	0	0	0	0	1	0	0	0	1526	797	28	2	484	2	BRWD3	23	79932589	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	2688389	79932589	75337971	2010	19681											
SATL1	340562	broad.mit.edu	37	chrX	84349197	84349197	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgccagtccatgagtcgtAtgtaaagtagtacatggcaa	10	8	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:84349197A>G	uc011mqx.1	-	4	1813	c.1813T>C	c.(1813-1815)TAC>CAC	p.Y605H	SATL1_uc004een.2_Missense_Mutation_p.Y605H	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	418	N-acetyltransferase.						N-acetyltransferase activity			breast(2)	2						CATGAGTCGTATGTAAAGTAG	0.383													G	84349197	A	G	84349197	3	3	20	1	0	0	0	0	1	0	0	0	13855	449	16	3	93	3	SATL1	23	84349197	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	4416608	84349197	70921363	2011	19682											
SATL1	340562	broad.mit.edu	37	chrX	84363029	84363029	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtgcctggttgtttcaTgccaggttggtttatgtctg	12	8	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:84363029T>A	uc011mqx.1	-	1	946	c.946A>T	c.(946-948)ATG>TTG	p.M316L	SATL1_uc004een.2_Missense_Mutation_p.M316L	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	129	Gln-rich.						N-acetyltransferase activity			breast(2)	2						GGTTGTTTCATGCCAGGTTGG	0.488													A	84363029	T	A	84363029	3	1	20	1	0	0	0	0	1	0	0	0	13855	1464	51	5	972	5	SATL1	23	84363029	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	13832	84363029	70907531	2012	19683											
ZNF711	7552	broad.mit.edu	37	chrX	84510747	84510747	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttctacagttactataaaaAccgaagatgatgatgatgat	8	5	1	5			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:84510747A>G	uc004eeo.2	+	4	909	c.562A>G	c.(562-564)ACC>GCC	p.T188A	ZNF711_uc004eep.2_Missense_Mutation_p.T188A|ZNF711_uc004eeq.2_Missense_Mutation_p.T188A	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	188					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			ovary(3)|skin(1)	4						TACTATAAAAACCGAAGATGA	0.378													G	84510747	A	G	84510747	3	3	20	1	0	0	0	0	1	0	0	0	18113	43	2	3	568	3	ZNF711	23	84510747	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	147718	84510747	70759813	2013	19684											
DRP2	1821	broad.mit.edu	37	chrX	100505457	100505457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcagccagtgtgaccagcGccaccttggtgtcctgcttc	12	14	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:100505457G>A	uc004egz.2	+	15	1955	c.1586G>A	c.(1585-1587)CGC>CAC	p.R529H	DRP2_uc011mrh.1_Missense_Mutation_p.R451H	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	529					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						TGTGACCAGCGCCACCTTGGT	0.612													A	100505457	G	A	100505457	3	1	20	1	0	0	0	0	1	0	0	0	4764	1087	38	1	1636	1	DRP2	23	100505457	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	15994710	100505457	54765103	2014	19685											
BHLHB9	80823	broad.mit.edu	37	chrX	102003967	102003968	+	Frame_Shift_Ins	INS	-	-	A													agagcccaggccaaaactgaINSaaaaaaggctgctatacaag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:102003966_102003967G>GA	uc022cbi.1	+	0	43_44	c.43_44G>GA	c.(43-45)gaafs	p.E15fs	BHLHB9_uc010nog.3_Frame_Shift_Ins_p.E15fs|BHLHB9_uc011mrq.2_Frame_Shift_Ins_p.E15fs|BHLHB9_uc011mrr.2_Frame_Shift_Ins_p.E15fs|BHLHB9_uc011mrs.2_Frame_Shift_Ins_p.E15fs|BHLHB9_uc011mrt.2_Frame_Shift_Ins_p.E15fs|BHLHB9_uc004ejo.3_Frame_Shift_Ins_p.E15fs|BHLHB9_uc011mru.2_Frame_Shift_Ins_p.E15fs|BHLHB9_uc011mrv.2_Frame_Shift_Ins_p.E15fs	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	15						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGCCAAAACTGAAAAAAAGGCT	0.5													A	102003968	-	A	102003967	7	5	20	1	0	1	1	0	0	0	0	0	1420	246	9	0	46	0	BHLHB9	23	102003967	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	1498510	102003967	53266593	2015	19686											
ESX1	80712	broad.mit.edu	37	chrX	103499192	103499192	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctgttccgtactcaggtTtggaccgtgtattctcctcg	9	12	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:103499192T>C	uc004ely.2	-	2	207	c.149A>G	c.(148-150)AAA>AGA	p.K50R		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	extraembryonic, spermatogenesis, homeobox	50					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GTACTCAGGTTTGGACCGTGT	0.597													C	103499192	T	C	103499192	3	2	20	1	0	0	0	0	1	0	0	0	5263	1841	64	3	1083	3	ESX1	23	103499192	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1495225	103499192	51771368	2016	19687											
NRK	203447	broad.mit.edu	37	chrX	105142690	105142690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtgatgaggacccaagaCgctcctatgattacagagtg	11	9	0	5			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:105142690C>T	uc004emd.2	+	8	997	c.694C>T	c.(694-696)CGC>TGC	p.R232C	NRK_uc010npc.1_Translation_Start_Site	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	232	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						GGACCCAAGACGCTCCTATGA	0.393										HNSCC(51;0.14)			T	105142690	C	T	105142690	3	4	20	1	0	0	0	0	1	0	0	0	10655	536	19	1	724	1	NRK	23	105142690	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1643498	105142690	50127870	2017	19688											
MORC4	79710	broad.mit.edu	37	chrX	106228468	106228469	+	Frame_Shift_Ins	INS	-	-	T													gaatcctcggtaataatcatINStttttgtaaaatcaaatata							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:106228467_106228468A>AT	uc004emu.4	-	4	807_808	c.532_533T>AT	c.(532-534)atgfs	p.M178fs	MORC4_uc004emp.4_Intron|MORC4_uc004emv.4_Frame_Shift_Ins_p.M178fs|MORC4_uc004emw.4_Intron	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.	178							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GGTAATAATCATTTTTTGTAAA	0.361													T	106228469	-	T	106228468	7	5	20	1	0	1	1	0	0	0	0	0	9704	1493	52	0	2333	0	MORC4	23	106228468	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	1085778	106228468	49042092	2018	19689											
IRS4	8471	broad.mit.edu	37	chrX	107976465	107976465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctgtttcagcatcatagCgaatggcactgtcagcaaga	10	10	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:107976465C>T	uc004eoc.2	-	1	3143	c.3110G>A	c.(3109-3111)CGC>CAC	p.R1037H		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	1037						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						AGCATCATAGCGAATGGCACT	0.473													T	107976465	C	T	107976465	3	4	20	1	0	0	0	0	1	0	0	0	7842	768	27	1	667	1	IRS4	23	107976465	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	1747997	107976465	47294095	2019	19690											
IRS4	8471	broad.mit.edu	37	chrX	107977589	107977589	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttgcattctttcgtggcTcctctgtcaacacaaaaata	5	11	4	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:107977589T>C	uc004eoc.2	-	1	2019	c.1986A>G	c.(1984-1986)GGA>GGG	p.G662G		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	662						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CTTTCGTGGCTCCTCTGTCAA	0.517													C	107977589	T	C	107977589	2	2	20	1	0	0	0	0	0	0	0	1	7842	1538	54	3		3	IRS4	23	107977589	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1124	107977589	47292971	2020	19691											
ACSL4	2182	broad.mit.edu	37	chrX	108902743	108902743	+	Splice_Site	DEL	A	A	-													atcacataggactgatcactAaaaaaacagaaaataaaata							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:108902742_108902742TA>T	uc004eoi.2	-	16	2326	c.1821_splice	c.e16-1	p.S607_splice	ACSL4_uc004eoj.2_Splice_Site_p.S566_splice|ACSL4_uc004eok.2_Splice_Site_p.S566_splice	NM_022977	NP_004449	O60488	ACSL4_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 4 (ACSL4), transcript variant 2, mRNA.	607					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	GACTGATCACTAAAAAAACAG	0.318													-	108902743	A	-	108902743	8	5	20	1	0	1	0	1	0	0	1	0	179	377	13	0		0	ACSL4	23	108902743	Splice_Site	DEL	A	TCGA-BR-4362-01A-01D-1158-08	925154	108902743	46367817	2021	19692											
HTR2C	3358	broad.mit.edu	37	chrX	114141351	114141351	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagctttgatgttactgcaCggccacaccgaggaaccgcc	10	14	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:114141351C>T	uc004epu.1	+	6	1478	c.750C>T	c.(748-750)CAC>CAT	p.H250H	HTR2C_uc010nqc.1_Silent_p.H250H|HTR2C_uc004epv.1_Missense_Mutation_p.R219W	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	250	Cytoplasmic (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TGTTACTGCACGGCCACACCG	0.512													T	114141351	C	T	114141351	2	4	20	1	0	0	0	0	0	0	0	1	7443	535	19	1		1	HTR2C	23	114141351	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	5238608	114141351	41129209	2022	19693											
WDR44	54521	broad.mit.edu	37	chrX	117480540	117480540	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctagggggcggctaccccgTggggtaagtgactgcagcta	16	11	0	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:117480540T>G	uc004eqn.2	+	1	499	c.74T>G	c.(73-75)GTG>GGG	p.V25G	WDR44_uc004eqo.2_Missense_Mutation_p.V25G|WDR44_uc011mtr.1_Missense_Mutation_p.V25G	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	25	Binding activity.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						GGCTACCCCGTGGGGTAAGTG	0.627													G	117480540	T	G	117480540	3	3	20	1	0	0	0	0	1	0	0	0	17293	1696	59	5	76	5	WDR44	23	117480540	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3339189	117480540	37790020	2023	19694											
DOCK11	139818	broad.mit.edu	37	chrX	117712549	117712549	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgccagaattgaaaaggTactacagggaaacattacac	9	7	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:117712549T>C	uc004eqp.2	+	13	1514	c.1451T>C	c.(1450-1452)GTA>GCA	p.V484A	DOCK11_uc004eqq.2_Missense_Mutation_p.V250A	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	484					blood coagulation	cytosol	GTP binding			ovary(3)	3						ATTGAAAAGGTACTACAGGGA	0.348													C	117712549	T	C	117712549	3	2	20	1	0	0	0	0	1	0	0	0	4686	1638	57	3	1501	3	DOCK11	23	117712549	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	232009	117712549	37558011	2024	19695											
IL13RA1	3597	broad.mit.edu	37	chrX	117895240	117895240	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagccaaactgagacacaTaatgttttctacgtaaggtt	7	8	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:117895240T>C	uc004eqs.2	+	6	859	c.816T>C	c.(814-816)CAT>CAC	p.H272H	IL13RA1_uc004eqr.1_Silent_p.H272H|IL13RA1_uc004eqt.1_Silent_p.H272H	NM_001560	NP_001551	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1 precursor	272	Extracellular (Potential).					interleukin-13 receptor complex	cytokine receptor activity				0						CTGAGACACATAATGTTTTCT	0.289													C	117895240	T	C	117895240	2	2	20	1	0	0	0	0	0	0	0	1	7629	1403	49	3		3	IL13RA1	23	117895240	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	182691	117895240	37375320	2025	19696											
CXorf56	63932	broad.mit.edu	37	chrX	118676477	118676477	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagacacttacagcctcaatCtcctcttcctcttcatcaat	3	15	6	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:118676477C>A	uc004erk.1	-	5	550	c.504G>T	c.(502-504)GAG>GAT	p.E168D	CXorf56_uc004erj.1_Missense_Mutation_p.E119D|CXorf56_uc011mtu.1_Missense_Mutation_p.E154D	NM_022101	NP_071384	Q9H5V9	CX056_HUMAN	hypothetical protein LOC63932	168							protein binding				0						CAGCCTCAATCTCCTCTTCCT	0.502													A	118676477	C	A	118676477	3	1	20	1	0	0	0	0	1	0	0	0	4112	912	32	5	176	5	CXorf56	23	118676477	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	781237	118676477	36594083	2026	19697											
UBE2A	7319	broad.mit.edu	37	chrX	118717213	118717213	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagaacaaagctggcgtgatTgttgaccccgggtacagttt	12	8	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:118717213T>C	uc004erl.2	+	6	630	c.454T>C	c.(454-456)TGT>CGT	p.C152R	UBE2A_uc004erm.2_Missense_Mutation_p.C122R|UBE2A_uc004ern.2_RNA|UBE2A_uc004ero.2_RNA|UBE2A_uc004erp.2_Missense_Mutation_p.C77R	NM_003336	NP_003327	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A isoform 1	152					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity				0						CTGGCGTGATTGTTGACCCCG	0.413								Direct_reversal_of_damage|Rad6_pathway					C	118717213	T	C	118717213	3	2	20	1	0	0	0	0	1	0	0	0	16841	1812	63	3	476	3	UBE2A	23	118717213	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	40736	118717213	36553347	2027	19698											
MCTS1	28985	broad.mit.edu	37	chrX	119742168	119742168	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatgtgtccaggcttaacTtctcctggagctaagcttta	8	10	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:119742168T>G	uc004esx.2	+	4	699	c.351T>G	c.(349-351)ACT>ACG	p.T117T	MCTS1_uc011mub.1_Silent_p.T118T	NM_014060	NP_054779	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1 isoform 1	117	PUA.				cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding				0						CAGGCTTAACTTCTCCTGGAG	0.413													G	119742168	T	G	119742168	2	3	20	1	0	0	0	0	0	0	0	1	9402	1596	56	5		5	MCTS1	23	119742168	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	1024955	119742168	35528392	2028	19699											
ODZ1	10178	broad.mit.edu	37	chrX	123517968	123517968	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaagaactgaaggtgctgCcctaggctggacttactcgc	11	10	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:123517968C>T	uc004euj.2	-	29	6856	c.6792G>A	c.(6790-6792)GGG>GGA	p.G2264G	ODZ1_uc011muj.1_Silent_p.G2270G|ODZ1_uc010nqy.2_Silent_p.G2271G	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	2264	YD 21.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						GAAGGTGCTGCCCTAGGCTGG	0.478													T	123517968	C	T	123517968	2	4	20	1	0	0	0	0	0	0	0	1	10834	726	26	2		2	ODZ1	23	123517968	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	3775800	123517968	31752592	2029	19700											
SMARCA1	6594	broad.mit.edu	37	chrX	128599865	128599865	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgatccttcgttgaattcTtgcttctccacgttcaattt	5	11	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:128599865T>C	uc004eun.3	-	22	2886	c.2773A>G	c.(2773-2775)AGA>GGA	p.R925G	SMARCA1_uc004eup.3_Missense_Mutation_p.R913G|SMARCA1_uc011muk.1_Missense_Mutation_p.R925G|SMARCA1_uc011mul.1_Missense_Mutation_p.R913G	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	925					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			ovary(3)|skin(1)	4						CGTTGAATTCTTGCTTCTCCA	0.333													C	128599865	T	C	128599865	3	2	20	1	0	0	0	0	1	0	0	0	14768	1617	56	3	403	3	SMARCA1	23	128599865	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	5081897	128599865	26670695	2030	19701											
SMARCA1	6594	broad.mit.edu	37	chrX	128621096	128621096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcccattttttgcaggcGttcattcatctctgcagtct	6	13	5	0	rs140388140		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:128621096G>A	uc004eun.3	-	17	2229	c.2116C>T	c.(2116-2118)CGC>TGC	p.R706C	SMARCA1_uc004eup.3_Missense_Mutation_p.R694C|SMARCA1_uc011muk.1_Missense_Mutation_p.R706C|SMARCA1_uc011mul.1_Missense_Mutation_p.R694C	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	706					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			ovary(3)|skin(1)	4						TTTTGCAGGCGTTCATTCATC	0.318													A	128621096	G	A	128621096	3	1	20	1	0	0	0	0	1	0	0	0	14768	1145	40	1	1080	1	SMARCA1	23	128621096	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	21231	128621096	26649464	2031	19702											
ZDHHC9	51114	broad.mit.edu	37	chrX	128948693	128948693	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaggagggagagagaaAggatgaagaggtagaagtag	19	0	0	6			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:128948693A>G	uc004euv.2	-	5	935	c.566T>C	c.(565-567)CTT>CCT	p.L189P	ZDHHC9_uc004euw.2_Missense_Mutation_p.L189P|ZDHHC9_uc004eux.1_Missense_Mutation_p.L189P|ZDHHC9_uc004euy.1_Missense_Mutation_p.L116P	NM_001008222	NP_001008223	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC domain containing 9	189	Helical; (Potential).|DHHC-type.					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1						GGAGAGAGAAAGGATGAAGAG	0.532													G	128948693	A	G	128948693	3	3	20	1	0	0	0	0	1	0	0	0	17619	72	3	3	552	3	ZDHHC9	23	128948693	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	327597	128948693	26321867	2032	19703											
ZDHHC9	51114	broad.mit.edu	37	chrX	128957767	128957767	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttatctggaaattcttgatAcgaggcggtggtcgctggcc	13	8	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:128957767A>G	uc004euv.2	-	4	744	c.375T>C	c.(373-375)CGT>CGC	p.R125R	ZDHHC9_uc004euw.2_Silent_p.R125R|ZDHHC9_uc004eux.1_Silent_p.R125R|ZDHHC9_uc004euy.1_Silent_p.R52R	NM_001008222	NP_001008223	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC domain containing 9	125	Cytoplasmic (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1						AATTCTTGATACGAGGCGGTG	0.488													G	128957767	A	G	128957767	2	3	20	1	0	0	0	0	0	0	0	1	17619	378	14	3		3	ZDHHC9	23	128957767	Silent	SNP	A	TCGA-BR-4362-01A-01D-1158-08	9074	128957767	26312793	2033	19704											
BCORL1	63035	broad.mit.edu	37	chrX	129149510	129149510	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttatgaagaacaagtcaatcCtgtcctcttgaccctcagcc	6	13	3	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:129149510C>A	uc004evb.1	+	4	2876	c.2762C>A	c.(2761-2763)CCT>CAT	p.P921H	BCORL1_uc010nrd.1_Missense_Mutation_p.P823H	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	921					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						CAAGTCAATCCTGTCCTCTTG	0.552													A	129149510	C	A	129149510	3	1	20	1	0	0	0	0	1	0	0	0	1387	681	24	5	2772	5	BCORL1	23	129149510	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	191743	129149510	26121050	2034	19705											
BCORL1	63035	broad.mit.edu	37	chrX	129162713	129162713	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtccaggggatctcggaTtcaccaaacggtttcctccc	9	13	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:129162713T>C	uc004evb.1	+	8	4296	c.4182T>C	c.(4180-4182)GAT>GAC	p.D1394D	BCORL1_uc010nrd.1_Silent_p.D1166D|BCORL1_uc004evc.1_Silent_p.D156D	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1394					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						GGATCTCGGATTCACCAAACG	0.502											OREG0019921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	129162713	T	C	129162713	2	2	20	1	0	0	0	0	0	0	0	1	1387	1490	52	3		3	BCORL1	23	129162713	Silent	SNP	T	TCGA-BR-4362-01A-01D-1158-08	13203	129162713	26107847	2035	19706											
BCORL1	63035	broad.mit.edu	37	chrX	129190011	129190011	+	Frame_Shift_Del	DEL	C	C	-													tggaggcttggacgacagatCccccccaggctcctctgaga							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:129190010_129190010TC>T	uc022cdu.1	+	11	5079	c.5035_5035TC>T	c.(5035-5037)tccfs	p.S1679fs	BCORL1_uc004evc.2_Frame_Shift_Del_p.S515fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1679					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGACGACAGATCCCCCCCAGG	0.607													-	129190011	C	-	129190011	7	5	20	1	0	1	0	1	0	0	0	0	1387	855	30	0	5308	0	BCORL1	23	129190011	Frame_Shift_Del	DEL	C	TCGA-BR-4362-01A-01D-1158-08	27298	129190011	26080549	2036	19707											
IGSF1	3547	broad.mit.edu	37	chrX	130410036	130410036	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcccagagtcctctgctccaAcagtgtggagaaggaagtca	11	11	2	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:130410036A>T	uc004ewd.2	-	15	3033	c.2795T>A	c.(2794-2796)GTT>GAT	p.V932D	IGSF1_uc004ewe.3_Missense_Mutation_p.V926D|IGSF1_uc004ewf.2_Missense_Mutation_p.V912D	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	932	Extracellular (Potential).|Ig-like C2-type 9.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						CTCTGCTCCAACAGTGTGGAG	0.512													T	130410036	A	T	130410036	3	4	20	1	0	0	0	0	1	0	0	0	7596	43	2	5	1239	5	IGSF1	23	130410036	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	1220025	130410036	24860524	2037	19708											
FAM122C	159091	broad.mit.edu	37	chrX	133941656	133941656	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagaaaatgaaactaggtTtcaagtcgctgccgagttcc	11	8	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:133941656T>C	uc004exz.1	+	1	433	c.28T>C	c.(28-30)TTC>CTC	p.F10L	FAM122C_uc010nru.1_Missense_Mutation_p.F46L|FAM122C_uc004exw.2_Missense_Mutation_p.F10L|FAM122C_uc004exx.2_RNA|FAM122C_uc011mvq.1_RNA|FAM122C_uc004exy.1_Missense_Mutation_p.F10L	NM_138819	NP_620174	Q6P4D5	F222C_HUMAN	hypothetical protein LOC159091	10											0	Acute lymphoblastic leukemia(192;0.000127)					GAAACTAGGTTTCAAGTCGCT	0.517													C	133941656	T	C	133941656	3	2	20	1	0	0	0	0	1	0	0	0	5421	1841	64	3	142	3	FAM122C	23	133941656	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	3531620	133941656	21328904	2038	19709											
CXorf48	54967	broad.mit.edu	37	chrX	134303672	134303672	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccacagaaacttgtgacaActccctgcacagttgtcaac	6	14	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:134303672A>G	uc004eyk.1	-	2	781	c.125T>C	c.(124-126)GTT>GCT	p.V42A	CXorf48_uc004eyl.1_Missense_Mutation_p.V42A	NM_001031705	NP_001026875	Q8WUE5	CX048_HUMAN	hypothetical protein LOC54967 isoform 1	42											0	Acute lymphoblastic leukemia(192;0.000127)					ACTTGTGACAACTCCCTGCAC	0.403													G	134303672	A	G	134303672	3	3	20	1	0	0	0	0	1	0	0	0	4111	43	2	3	693	3	CXorf48	23	134303672	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	362016	134303672	20966888	2039	19710											
ZNF449	203523	broad.mit.edu	37	chrX	134494771	134494771	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcataattgtgggaaaAgttttagtcgactgacagct	11	5	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:134494771A>C	uc004eys.2	+	5	1492	c.1327A>C	c.(1327-1329)AGT>CGT	p.S443R	ZNF449_uc004eyt.2_Missense_Mutation_p.S323R|ZNF449_uc004eyu.2_Missense_Mutation_p.S249R	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	443	C2H2-type 5.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TTGTGGGAAAAGTTTTAGTCG	0.368													C	134494771	A	C	134494771	3	2	20	1	0	0	0	0	1	0	0	0	17917	72	3	5	1341	5	ZNF449	23	134494771	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	191099	134494771	20775789	2040	19711											
FHL1	2273	broad.mit.edu	37	chrX	135290680	135290680	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgattgctttgtgtgtgttAcctgctctaagaagctggct	11	9	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:135290680A>G	uc004ezo.2	+	5	668	c.568A>G	c.(568-570)ACC>GCC	p.T190A	FHL1_uc010nrz.2_Missense_Mutation_p.T190A|FHL1_uc004ezm.2_RNA|FHL1_uc004ezl.2_Missense_Mutation_p.T190A|FHL1_uc004ezq.2_Intron|FHL1_uc011mvy.1_Missense_Mutation_p.T190A|FHL1_uc011mvz.1_Missense_Mutation_p.T190A|FHL1_uc004ezn.2_Missense_Mutation_p.T190A|FHL1_uc011mwa.1_Missense_Mutation_p.T219A|FHL1_uc011mwb.1_RNA|FHL1_uc004ezp.2_Missense_Mutation_p.T206A|FHL1_uc004ezr.2_Silent_p.L8L	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	four and a half LIM domains 1 isoform 1	190	LIM zinc-binding 3.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)					TGTGTGTGTTACCTGCTCTAA	0.527													G	135290680	A	G	135290680	3	3	20	1	0	0	0	0	1	0	0	0	5878	391	14	3	699	3	FHL1	23	135290680	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	795909	135290680	19979880	2041	19712											
MAP7D3	79649	broad.mit.edu	37	chrX	135313712	135313712	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgacaaacctttggagcGtctctcgcttttgccttggg	10	11	1	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:135313712G>A	uc004ezt.2	-	8	1495	c.1404C>T	c.(1402-1404)GAC>GAT	p.D468D	MAP7D3_uc004ezs.2_Silent_p.D432D|MAP7D3_uc011mwc.1_Silent_p.D450D|MAP7D3_uc010nsa.1_Silent_p.D426D	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	468						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CCTTTGGAGCGTCTCTCGCTT	0.423													A	135313712	G	A	135313712	2	1	20	1	0	0	0	0	0	0	0	1	9269	1136	40	1		1	MAP7D3	23	135313712	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	23032	135313712	19956848	2042	19713											
HTATSF1	27336	broad.mit.edu	37	chrX	135593401	135593402	+	Frame_Shift_Ins	INS	-	-	A													gatctgaagaggatagtcctINSaaaaaagagtctaaaaagaa							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:135593401_135593402insA	uc004ezw.2	+	10	1919_1920	c.1497_1498insA	c.(1495-1500)CCTAAAfs	p.P499fs	HTATSF1_uc004ezx.2_Frame_Shift_Ins_p.P499fs	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	499_500	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					AGGATAGTCCTAAAAAAGAGTC	0.441													A	135593402	-	A	135593401	7	5	20	1	0	1	1	0	0	0	0	0	7433	1509	53	0	1531	0	HTATSF1	23	135593401	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	279689	135593401	19677159	2043	19714	66	2									
HTATSF1	27336	broad.mit.edu	37	chrX	135593402	135593403	+	Frame_Shift_Ins	INS	-	-	A													atctgaagaggatagtcctaINSaaaaagagtctaaaaagaag							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:135593401_135593402T>TA	uc004ezw.3	+	9	1919_1920	c.1497_1498T>TA	c.(1495-1500)cctaaafs	p.P499fs	HTATSF1_uc004ezx.3_Frame_Shift_Ins_p.P499fs	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	499	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AGGATAGTCCTAAAAAAGAGTC	0.441													A	135593403	-	A	135593402	7	5	20	1	0	1	1	0	0	0	0	0	7433	363	13	0	1532	0	HTATSF1	23	135593402	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	1	135593402	19677158	2044	19715	66	2									
VGLL1	51442	broad.mit.edu	37	chrX	135630774	135630774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgtctccaaatcagtggCgttactcgtctccatggaca	9	12	3	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:135630774C>T	uc004ezy.2	+	3	411	c.241C>T	c.(241-243)CGT>TGT	p.R81C	MIR934_hsa-mir-934|MI0005756_5'Flank	NM_016267	NP_057351	Q99990	VGLL1_HUMAN	vestigial like 1	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity				0	Acute lymphoblastic leukemia(192;0.000127)					AAATCAGTGGCGTTACTCGTC	0.423													T	135630774	C	T	135630774	3	4	20	1	0	0	0	0	1	0	0	0	17155	768	27	1	247	1	VGLL1	23	135630774	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	37372	135630774	19639786	2045	19716											
MCF2	4168	broad.mit.edu	37	chrX	138698521	138698521	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tataaagggtagagccatttCaagaaaattttcaatgtctt	7	5	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:138698521C>T	uc004fau.2	-	9	1405	c.1111G>A	c.(1111-1113)GAA>AAA	p.E371K	MCF2_uc004fav.2_Missense_Mutation_p.E371K|MCF2_uc011mwl.1_Missense_Mutation_p.E332K|MCF2_uc010nsh.1_Missense_Mutation_p.E371K|MCF2_uc011mwm.1_Missense_Mutation_p.E332K|MCF2_uc011mwn.1_Missense_Mutation_p.E516K|MCF2_uc004faw.2_Missense_Mutation_p.E431K|MCF2_uc011mwo.1_Missense_Mutation_p.E431K	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	371					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					AGAGCCATTTCAAGAAAATTT	0.338													T	138698521	C	T	138698521	3	4	20	1	0	0	0	0	1	0	0	0	9378	835	29	4	1814	4	MCF2	23	138698521	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	3067747	138698521	16572039	2046	19717											
ATP11C	286410	broad.mit.edu	37	chrX	138865330	138865330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtataggctcaccattgcaTtacgttccacatggacttta	7	10	1	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:138865330T>C	uc004faz.2	-	17	1871	c.1772A>G	c.(1771-1773)AAT>AGT	p.N591S	ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.N591S	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	591	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					CACCATTGCATTACGTTCCAC	0.368													C	138865330	T	C	138865330	3	2	20	1	0	0	0	0	1	0	0	0	1121	1493	52	3	1745	3	ATP11C	23	138865330	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	166809	138865330	16405230	2047	19718											
SLITRK2	84631	broad.mit.edu	37	chrX	144905424	144905424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgataatatatttggggggaCggccctaaccaggctgaatc	12	8	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:144905424C>T	uc004fcd.2	+	5	2471	c.1481C>T	c.(1480-1482)ACG>ATG	p.T494M	SLITRK2_uc010nsp.2_Missense_Mutation_p.T494M|SLITRK2_uc010nso.2_Missense_Mutation_p.T494M|SLITRK2_uc011mwq.1_Missense_Mutation_p.T494M|SLITRK2_uc011mwr.1_Missense_Mutation_p.T494M|SLITRK2_uc011mws.1_Missense_Mutation_p.T494M|SLITRK2_uc004fcg.2_Missense_Mutation_p.T494M|SLITRK2_uc011mwt.1_Missense_Mutation_p.T494M	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	494	Extracellular (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGGGGGGACGGCCCTAACC	0.463													T	144905424	C	T	144905424	3	4	20	1	0	0	0	0	1	0	0	0	14743	536	19	1	1483	1	SLITRK2	23	144905424	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	6040094	144905424	10365136	2048	19719											
SLITRK2	84631	broad.mit.edu	37	chrX	144905693	144905693	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgtccagacagcccaaacTtgtcagatggaaccgtcttg	9	12	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:144905693T>A	uc004fcd.2	+	5	2740	c.1750T>A	c.(1750-1752)TTG>ATG	p.L584M	SLITRK2_uc010nsp.2_Missense_Mutation_p.L584M|SLITRK2_uc010nso.2_Missense_Mutation_p.L584M|SLITRK2_uc011mwq.1_Missense_Mutation_p.L584M|SLITRK2_uc011mwr.1_Missense_Mutation_p.L584M|SLITRK2_uc011mws.1_Missense_Mutation_p.L584M|SLITRK2_uc004fcg.2_Missense_Mutation_p.L584M|SLITRK2_uc011mwt.1_Missense_Mutation_p.L584M	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	584	Extracellular (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCCAAACTTGTCAGATGG	0.468													A	144905693	T	A	144905693	3	1	20	1	0	0	0	0	1	0	0	0	14743	1606	56	5	1752	5	SLITRK2	23	144905693	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	269	144905693	10364867	2049	19720											
MAGEA8	4107	broad.mit.edu	37	chrX	149013371	149013371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctggagtccctgttcCgggaagcacttgatgagaaa	11	11	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:149013371C>T	uc004fdw.1	+	3	540	c.325C>T	c.(325-327)CGG>TGG	p.R109W		NM_005364	NP_005355	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	109											0	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCCTGTTCCGGGAAGCACT	0.542													T	149013371	C	T	149013371	3	4	20	1	0	0	0	0	1	0	0	0	9171	643	23	1	327	1	MAGEA8	23	149013371	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	4107678	149013371	6257189	2050	19721											
MTMR1	8776	broad.mit.edu	37	chrX	149931153	149931153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctcatcctcatctgagcGgggctcctcgccctcccact	8	19	3	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:149931153G>A	uc004fei.2	+	15	2084	c.1949G>A	c.(1948-1950)CGG>CAG	p.R650Q	MTMR1_uc011mya.1_Missense_Mutation_p.R556Q|MTMR1_uc004feh.1_Missense_Mutation_p.R658Q|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_Intron	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	650						plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					TCATCTGAGCGGGGCTCCTCG	0.677													A	149931153	G	A	149931153	3	1	20	1	0	0	0	0	1	0	0	0	9938	1116	39	1	2007	1	MTMR1	23	149931153	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	917782	149931153	5339407	2051	19722											
PASD1	139135	broad.mit.edu	37	chrX	150839574	150839574	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaactggaactgatgaagaAgttgaaggagcagctagaag	15	4	0	5			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:150839574A>C	uc004fev.3	+	12	1468	c.1136A>C	c.(1135-1137)AAG>ACG	p.K379T		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	379	Potential.					nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CTGATGAAGAAGTTGAAGGAG	0.448													C	150839574	A	C	150839574	3	2	20	1	0	0	0	0	1	0	0	0	11471	72	3	5	1178	5	PASD1	23	150839574	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	908421	150839574	4430986	2052	19723											
MAGEA10	4109	broad.mit.edu	37	chrX	151304043	151304043	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtctcactttgggatTgaagatcttcttcaggcatg	10	9	4	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:151304043T>C	uc004ffk.2	-	5	458	c.50A>G	c.(49-51)CAA>CGA	p.Q17R	MAGEA10_uc004ffl.2_Missense_Mutation_p.Q17R	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	17											0	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTTGGGATTGAAGATCTTC	0.532													C	151304043	T	C	151304043	3	2	20	1	0	0	0	0	1	0	0	0	9164	1812	63	3	1063	3	MAGEA10	23	151304043	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	464469	151304043	3966517	2053	19724											
NSDHL	50814	broad.mit.edu	37	chrX	152031181	152031181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagtgtcatctttgagggCgtcgatatcaagaatggaac	12	8	3	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:152031181C>T	uc004fgt.1	+	6	717	c.456C>T	c.(454-456)GGC>GGT	p.G152G	NSDHL_uc004fgs.1_Silent_p.G152G	NM_001129765	NP_001123237	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	152					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity				0	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	TCTTTGAGGGCGTCGATATCA	0.413													T	152031181	C	T	152031181	2	4	20	1	0	0	0	0	0	0	0	1	10670	755	27	1		1	NSDHL	23	152031181	Silent	SNP	C	TCGA-BR-4362-01A-01D-1158-08	727138	152031181	3239379	2054	19725											
ZNF275	10838	broad.mit.edu	37	chrX	152613218	152613218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagtgtggcaaggccttcCgtgggccctctgacctcatc	13	14	2	1			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:152613218C>T	uc004fhg.1	+	5	1154	c.977C>T	c.(976-978)CCG>CTG	p.P326L	ZNF275_uc011mym.1_Missense_Mutation_p.R359C|ZNF275_uc011myn.1_Missense_Mutation_p.R296C			A6NFS0	A6NFS0_HUMAN	SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;	326						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAAGGCCTTCCGTGGGCCCTC	0.667													T	152613218	C	T	152613218	3	4	20	1	0	0	0	0	1	0	0	0	17807	652	23	1	991	1	ZNF275	23	152613218	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	582037	152613218	2657342	2055	19726											
ATP2B3	492	broad.mit.edu	37	chrX	152813346	152813346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagcccctgaagagcgcgGagggtggggagatggaggag	21	7	0	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:152813346G>A	uc004fht.1	+	7	1138	c.1012G>A	c.(1012-1014)GAG>AAG	p.E338K	ATP2B3_uc004fhs.1_Missense_Mutation_p.E338K	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	338	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAAGAGCGCGGAGGGTGGGGA	0.587													A	152813346	G	A	152813346	3	1	20	1	0	0	0	0	1	0	0	0	1141	1175	41	4	1038	4	ATP2B3	23	152813346	Missense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	200128	152813346	2457214	2056	19727											
ARHGAP4	393	broad.mit.edu	37	chrX	153184481	153184481	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccggagcacctgccccagGgccaggtggaaccctgtgtc	13	16	0	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:153184481G>T	uc004fjk.1	-	7	879	c.837C>A	c.(835-837)GCC>GCA	p.A279A	ARHGAP4_uc011mzf.1_Silent_p.A256A|ARHGAP4_uc004fjl.1_Silent_p.A319A|ARHGAP4_uc010nup.1_RNA	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2	279					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCCCCAGGGCCAGGTGGA	0.662													T	153184481	G	T	153184481	2	4	20	1	0	0	0	0	0	0	0	1	885	1219	43	5		5	ARHGAP4	23	153184481	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	371135	153184481	2086079	2057	19728											
ARHGAP4	393	broad.mit.edu	37	chrX	153184643	153184643	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacgtcatgcaggtagtagTtactgacagcagcgttgaca	12	8	1	3			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:153184643T>C	uc004fjk.1	-	6	818	c.776A>G	c.(775-777)AAC>AGC	p.N259S	ARHGAP4_uc011mzf.1_Missense_Mutation_p.N236S|ARHGAP4_uc004fjl.1_Missense_Mutation_p.N299S|ARHGAP4_uc010nup.1_RNA	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2	259					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGTAGTAGTTACTGACAGC	0.577													C	153184643	T	C	153184643	3	2	20	1	0	0	0	0	1	0	0	0	885	1725	60	3	2132	3	ARHGAP4	23	153184643	Missense_Mutation	SNP	T	TCGA-BR-4362-01A-01D-1158-08	162	153184643	2085917	2058	19729											
HCFC1	3054	broad.mit.edu	37	chrX	153219884	153219884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccgtctcgtgggtctcGcatggcgggttggagcacac	16	12	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:153219884G>A	uc004fjp.2	-	17	4494	c.3966C>T	c.(3964-3966)TGC>TGT	p.C1322C		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1322	HCF repeat 6.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGGGTCTCGCATGGCGGGT	0.687													A	153219884	G	A	153219884	2	1	20	1	0	0	0	0	0	0	0	1	6991	1079	38	1		1	HCFC1	23	153219884	Silent	SNP	G	TCGA-BR-4362-01A-01D-1158-08	35241	153219884	2050676	2059	19730											
IRAK1	3654	broad.mit.edu	37	chrX	153278860	153278860	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccccgccaccactgcctGcagcttctctagcctctcgt	6	21	2	0			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:153278860G>A	uc004fjs.1	-	12	1643	c.1564C>T	c.(1564-1566)CAG>TAG	p.Q522*	IRAK1_uc004fjr.1_Intron|IRAK1_uc004fjt.1_Nonsense_Mutation_p.Q443*|IRAK1_uc010nur.2_Intron	NM_001569	NP_001560	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	522					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCACTGCCTGCAGCTTCTCT	0.657													A	153278860	G	A	153278860	4	1	20	1	0	0	0	0	0	1	0	0	7821	1328	46	2	586	2	IRAK1	23	153278860	Nonsense_Mutation	SNP	G	TCGA-BR-4362-01A-01D-1158-08	58976	153278860	1991700	2060	19731											
TKTL1	8277	broad.mit.edu	37	chrX	153524229	153524229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaatggcggatgctgaggCgagggctgagttcccggagg	18	8	0	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:153524229C>T	uc004fkg.2	+	1	203	c.17C>T	c.(16-18)GCG>GTG	p.A6V	TEX28_uc004fke.2_5'Flank|TEX28_uc004fkf.2_5'Flank|TEX28_uc010nut.1_5'Flank|TKTL1_uc011mzl.1_Missense_Mutation_p.A6V|TKTL1_uc011mzm.1_Missense_Mutation_p.A6V	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	6					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GATGCTGAGGCGAGGGCTGAG	0.612													T	153524229	C	T	153524229	3	4	20	1	0	0	0	0	1	0	0	0	15932	768	27	1	19	1	TKTL1	23	153524229	Missense_Mutation	SNP	C	TCGA-BR-4362-01A-01D-1158-08	245369	153524229	1746331	2061	19732											
FLNA	2316	broad.mit.edu	37	chrX	153590824	153590825	+	Frame_Shift_Ins	INS	-	-	C													ataatggtgtagctgccagcINScccccggggcgtgtacttga							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:153590823_153590824G>GC	uc004fkk.2	-	16	2776_2777	c.2527_2528C>GC	c.(2527-2529)gctfs	p.A843fs	FLNA_uc010nuu.1_Frame_Shift_Ins_p.A843fs	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	843					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTAGCTGCCAGCCCCCCGGGGC	0.599													C	153590825	-	C	153590824	7	5	20	1	0	1	1	0	0	0	0	0	5933	739	26	0	5544	0	FLNA	23	153590824	Frame_Shift_Ins	INS	-	TCGA-BR-4362-01A-01D-1158-08	66595	153590824	1679736	2062	19733											
ATP6AP1	537	broad.mit.edu	37	chrX	153662013	153662013	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtcctgagcacactcAagtccgaagatgtcccatac	10	13	1	2			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:153662013A>G	uc004flf.1	+	6	692	c.631A>G	c.(631-633)AAG>GAG	p.K211E	ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Missense_Mutation_p.K171E	NM_001183	NP_001174	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory	211					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(3)|breast(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAGCACACTCAAGTCCGAAGA	0.607													G	153662013	A	G	153662013	3	3	20	1	0	0	0	0	1	0	0	0	1165	131	5	3	653	3	ATP6AP1	23	153662013	Missense_Mutation	SNP	A	TCGA-BR-4362-01A-01D-1158-08	71189	153662013	1608547	2063	19734											
F8	2157	broad.mit.edu	37	chrX	154088725	154088725	+	Frame_Shift_Del	DEL	A	A	-													acctttactttgccattctgAaaaaagagagtccactgatg							TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:154088724_154088724GA>G	uc004fmt.3	-	24	7054	c.6883_6883TC>C	c.(6883-6885)cagfs	p.Q2295fs	F8_uc004fms.3_Frame_Shift_Del_p.Q160fs	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	2295	F5/8 type C 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.Q2295*(3)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTGCCATTCTGAAAAAAGAGA	0.398													-	154088725	A	-	154088725	7	5	20	1	0	1	0	1	0	0	0	0	5350	243	9	0	181	0	F8	23	154088725	Frame_Shift_Del	DEL	A	TCGA-BR-4362-01A-01D-1158-08	426712	154088725	1181835	2064	19735											
TAS1R3	83756	broad.mit.edu	37	chr1	1266787	1266787	+	Frame_Shift_Del	DEL	C	C	-													cctgcaccctgggacgggggCcccattgtgcctgtcacagc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:1266786_1266786GC>G	uc010nyk.2	+	0	61	c.61_61GC>G	c.(61-63)gccfs	p.A21fs		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA.	21					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	TGGGACGGGGGCCCCATTGTG	0.692													-	1266787	C	-	1266787	7	5	21	1	0	1	0	1	0	0	0	0	15561	739	26	0	64	0	TAS1R3	1	1266787	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08		1266787	247983834	1	19736											
KIAA1751	85452	broad.mit.edu	37	chr1	1900173	1900173	+	Frame_Shift_Del	DEL	G	G	-													agccggtgcctggcactggtGgggggatgctgtttcttcct							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:1900172_1900172TG>T	uc001aim.1	-	10	1303	c.1147_1147CA>A	c.(1147-1149)accfs	p.T383fs	KIAA1751_uc009vkz.1_Frame_Shift_Del_p.T383fs	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	383										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CTGGCACTGGTGGGGGGATGC	0.532													-	1900173	G	-	1900173	7	5	21	1	0	1	0	1	0	0	0	0	8256	1335	47	0	1174	0	KIAA1751	1	1900173	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	633386	1900173	247350448	2	19737											
CHD5	26038	broad.mit.edu	37	chr1	6212502	6212502	+	Frame_Shift_Del	DEL	C	C	-													ttcttcctcttgttgctgatCcccccgaagcggaacttgag							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:6212501_6212501TC>T	uc001amb.2	-	5	952	c.841_841GA>A	c.(841-843)atcfs	p.I281fs		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	281	Lys-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTGTTGCTGATCCCCCCGAAG	0.547													-	6212502	C	-	6212502	7	5	21	1	0	1	0	1	0	0	0	0	3328	842	30	0	5168	0	CHD5	1	6212502	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	4312329	6212502	243038119	3	19738											
RERE	473	broad.mit.edu	37	chr1	8418972	8418972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatgcgctgagctggacGccttctgcagaaggaaaaga	12	10	2	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:8418972G>A	uc001ape.2	-	21	4433	c.3623C>T	c.(3622-3624)GCG>GTG	p.A1208V	RERE_uc001apf.2_Missense_Mutation_p.A1208V|RERE_uc001apd.2_Missense_Mutation_p.A654V	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1208	Potential.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGAGCTGGACGCCTTCTGCAG	0.642													A	8418972	G	A	8418972	3	1	21	1	0	0	0	0	1	0	0	0	13231	1087	38	1	1093	1	RERE	1	8418972	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	2206470	8418972	240831649	4	19739											
SRM	6723	broad.mit.edu	37	chr1	11116784	11116784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagccaatggccatgcctgGcaggaacttcttggagactt	12	10	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:11116784G>A	uc001arz.1	-	4	503	c.412C>T	c.(412-414)CCA>TCA	p.P138S	SRM_uc001ary.1_5'UTR	NM_003132	NP_003123	P19623	SPEE_HUMAN	spermidine synthase	138					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity				0	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	GCCATGCCTGGCAGGAACTTC	0.572													A	11116784	G	A	11116784	3	1	21	1	0	0	0	0	1	0	0	0	15150	1203	42	2	516	2	SRM	1	11116784	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	2697812	11116784	238133837	5	19740											
NPPB	4879	broad.mit.edu	37	chr1	11918372	11918372	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtggtgcccgcagggtgTagaggaccattttgcggtgc	16	9	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:11918372T>C	uc001atj.2	-	2	389	c.287A>G	c.(286-288)TAC>TGC	p.Y96C		NM_002521	NP_002512	P16860	ANFB_HUMAN	natriuretic peptide precursor B preproprotein	96					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			ovary(2)	2	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	CCGCAGGGTGTAGAGGACCAT	0.647													C	11918372	T	C	11918372	3	2	21	1	0	0	0	0	1	0	0	0	10592	1638	57	3	125	3	NPPB	1	11918372	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	801588	11918372	237332249	6	19741											
SPEN	23013	broad.mit.edu	37	chr1	16237752	16237753	+	Frame_Shift_Del	DEL	TT	TT	-													gactgcatcaaaaggaaaacTtttctttggcatgcagattg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:16237752_16237753delTT	uc001axk.1	+	5	1403_1404	c.1199_1200delTT	c.(1198-1200)CTTfs	p.L400fs	SPEN_uc010obp.1_Frame_Shift_Del_p.L359fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	400	RRM 2.|By similarity.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAGGAAAACTTTTCTTTGGCA	0.431													-	16237753	TT	-	16237752	7	5	21	1	0	1	0	1	0	0	0	0	15037	1609	56	0	1217	0	SPEN	1	16237752	Frame_Shift_Del	DEL	TT	TCGA-BR-4363-01A-01D-1158-08	4319380	16237752	233012869	7	19742											
KIAA0090	23065	broad.mit.edu	37	chr1	19577930	19577930	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatcaaacttgcccacttggTcttcgtagaccgcggccgca	9	14	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:19577930T>A	uc001bbo.2	-	1	117	c.74A>T	c.(73-75)GAC>GTC	p.D25V	KIAA0090_uc001bbp.2_Missense_Mutation_p.D25V|KIAA0090_uc001bbq.2_Missense_Mutation_p.D25V|KIAA0090_uc001bbr.2_Missense_Mutation_p.D25V|MRTO4_uc001bbs.2_5'Flank	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	25	Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		GCCCACTTGGTCTTCGTAGAC	0.562													A	19577930	T	A	19577930	3	1	21	1	0	0	0	0	1	0	0	0	8153	1667	58	5	2999	5	KIAA0090	1	19577930	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	3340178	19577930	229672691	8	19743											
PINK1	65018	broad.mit.edu	37	chr1	20964564	20964564	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccaggagaagggcaggAgcgagctccgggggcccctg	18	12	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:20964564A>C	uc001bdm.2	+	2	711	c.617A>C	c.(616-618)GAG>GCG	p.E206A		NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1 precursor	206	Protein kinase.|Cytoplasmic (Potential).				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			ovary(2)|central_nervous_system(1)	3		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAAGGGCAGGAGCGAGCTCCG	0.577													C	20964564	A	C	20964564	3	2	21	1	0	0	0	0	1	0	0	0	11932	304	11	5	623	5	PINK1	1	20964564	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	1386634	20964564	228286057	9	19744											
ECE1	1889	broad.mit.edu	37	chr1	21599193	21599193	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccatgctggatgcttaccGaggaggtgcttgatgattgc	13	9	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:21599193G>A	uc001bek.2	-	4	567	c.492C>T	c.(490-492)CTC>CTT	p.L164L	ECE1_uc001bem.2_Silent_p.L148L|ECE1_uc001bej.2_Silent_p.L152L|ECE1_uc001bei.2_Silent_p.L161L|ECE1_uc010odl.1_Silent_p.L164L|ECE1_uc009vqa.1_Silent_p.L164L	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	164	Extracellular (Potential).				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			ovary(2)|skin(1)	3		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GATGCTTACCGAGGAGGTGCT	0.597													A	21599193	G	A	21599193	2	1	21	1	0	0	0	0	0	0	0	1	4889	1072	37	1		1	ECE1	1	21599193	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	634629	21599193	227651428	10	19745											
LUZP1	7798	broad.mit.edu	37	chr1	23418659	23418660	+	Frame_Shift_Ins	INS	-	-	C													aaatagggaggttctaggtgINScccctcgggttttagccttt							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:23418659_23418660insC	uc001bgk.2	-	4	2479_2480	c.2095_2096insG	c.(2095-2097)GCAfs	p.A699fs	LUZP1_uc010odv.1_Frame_Shift_Ins_p.A699fs|LUZP1_uc001bgl.2_Frame_Shift_Ins_p.A699fs|LUZP1_uc001bgm.1_Frame_Shift_Ins_p.A699fs	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	699						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GGTTCTAGGTGCCCCTCGGGTT	0.465													C	23418660	-	C	23418659	7	5	21	1	0	1	1	0	0	0	0	0	9086	1319	46	0	1142	0	LUZP1	1	23418659	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	1819466	23418659	225831962	11	19746	67	2									
LUZP1	7798	broad.mit.edu	37	chr1	23418660	23418661	+	Frame_Shift_Ins	INS	-	-	C													aatagggaggttctaggtgcINSccctcgggttttagcctttt							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:23418659_23418660G>GC	uc001bgk.2	-	3	2645_2646	c.2095_2096C>GC	c.(2095-2097)gcafs	p.A699fs	LUZP1_uc010odv.1_Frame_Shift_Ins_p.A699fs|LUZP1_uc001bgl.3_Frame_Shift_Ins_p.A699fs|LUZP1_uc001bgm.1_Frame_Shift_Ins_p.A699fs	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA.	699						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GGTTCTAGGTGCCCCTCGGGTT	0.465													C	23418661	-	C	23418660	7	5	21	1	0	1	1	0	0	0	0	0	9086	739	26	0	1143	0	LUZP1	1	23418660	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	1	23418660	225831961	12	19747	67	2									
ARID1A	8289	broad.mit.edu	37	chr1	27100176	27100176	+	Frame_Shift_Del	DEL	C	C	-													atgtattctcctagccgctaCcccccgcagcagcagcagca							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:27100175_27100175AC>A	uc001bmv.1	+	15	4344	c.3971_3971AC>A	c.(3970-3972)tacfs	p.Y1324fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.Y1323fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Y1324fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Y941fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.Y170fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1324					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Y1324fs*1(2)|p.Y1324*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTAGCCGCTACCCCCCgcag	0.602			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27100176	C	-	27100176	7	5	21	1	0	1	0	1	0	0	0	0	913	518	18	0	4034	0	ARID1A	1	27100176	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	3681516	27100176	222150445	13	19748											
ARID1A	8289	broad.mit.edu	37	chr1	27101117	27101117	+	Frame_Shift_Del	DEL	C	C	-													gccgagaccgtgtctctgcaCcccctggcaccaatgcccag							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:27101117delC	uc001bmv.1	+	18	4772	c.4399delC	c.(4399-4401)CCCfs	p.P1467fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.P1466fs|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Frame_Shift_Del_p.P1084fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.P313fs|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1467					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGTCTCTGCACCCCCTGGCAC	0.607			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								-	27101117	C	-	27101117	7	5	21	1	0	1	0	1	0	0	0	0	913	507	18	0	4469	0	ARID1A	1	27101117	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	941	27101117	222149504	14	19749											
PTPRU	10076	broad.mit.edu	37	chr1	29581889	29581889	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaagtgcgaatccaccctgGcacccgggcacctgcggacc	12	17	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:29581889G>T	uc001bru.2	+	2	286	c.176G>T	c.(175-177)GGC>GTC	p.G59V	PTPRU_uc001brv.2_Missense_Mutation_p.G59V|PTPRU_uc001brw.2_Missense_Mutation_p.G59V|PTPRU_uc009vtq.2_Missense_Mutation_p.G59V|PTPRU_uc009vtr.2_Missense_Mutation_p.G59V	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	59	Extracellular (Potential).|MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ATCCACCCTGGCACCCGGGCA	0.507													T	29581889	G	T	29581889	3	4	21	1	0	0	0	0	1	0	0	0	12813	1203	42	5	182	5	PTPRU	1	29581889	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	2480772	29581889	219668732	15	19750											
SDC3	9672	broad.mit.edu	37	chr1	31349751	31349752	+	Frame_Shift_Ins	INS	-	-	C													cactgtggccacagtcgggtINScccctgtgcttgtggcagca							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:31349751_31349752insC	uc001bse.2	-	3	564_565	c.517_518insG	c.(517-519)GACfs	p.D173fs	SDC3_uc001bsd.2_Frame_Shift_Ins_p.D115fs	NM_014654	NP_055469	O75056	SDC3_HUMAN	syndecan 3	173	Extracellular (Potential).|Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CACAGTCGGGTCCCCTGTGCTT	0.644													C	31349752	-	C	31349751	7	5	21	1	0	1	1	0	0	0	0	0	13953	1667	58	0	822	0	SDC3	1	31349751	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	1767862	31349751	217900870	16	19751	68	2									
SDC3	9672	broad.mit.edu	37	chr1	31349752	31349753	+	Frame_Shift_Ins	INS	-	-	C													actgtggccacagtcgggtcINSccctgtgcttgtggcagcag							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:31349751_31349752T>TC	uc001bse.2	-	2	564_565	c.517_518A>GA	c.(517-519)gacfs	p.D173fs	SDC3_uc001bsd.2_Frame_Shift_Ins_p.D115fs	NM_014654	NP_055469	O75056	SDC3_HUMAN	Homo sapiens syndecan 3 (SDC3), mRNA.	173	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CACAGTCGGGTCCCCTGTGCTT	0.644													C	31349753	-	C	31349752	7	5	21	1	0	1	1	0	0	0	0	0	13953	855	30	0	823	0	SDC3	1	31349752	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	1	31349752	217900869	17	19752	68	2									
RBBP4	5928	broad.mit.edu	37	chr1	33134451	33134451	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttacttagtgcttcagatgAccatgtgtgtatccttccca	7	11	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:33134451A>G	uc001bvr.2	+	5	755	c.596A>G	c.(595-597)GAC>GGC	p.D199G	RBBP4_uc001bvs.2_Missense_Mutation_p.D198G|RBBP4_uc010ohj.1_5'UTR|RBBP4_uc010ohk.1_Missense_Mutation_p.D164G	NM_005610	NP_005601	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4 isoform a	199	WD 2.				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GCTTCAGATGACCATGTGTGT	0.463													G	33134451	A	G	33134451	3	3	21	1	0	0	0	0	1	0	0	0	13101	275	10	3	614	3	RBBP4	1	33134451	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	1784699	33134451	216116170	18	19753											
EPHA10	284656	broad.mit.edu	37	chr1	38227120	38227120	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaatcccgcgctgcagctGcagcggcccacaggcaccag	13	16	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:38227120G>A	uc009vvi.2	-	3	893	c.807C>T	c.(805-807)TGC>TGT	p.C269C	EPHA10_uc001cbw.3_Silent_p.C269C	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	269	Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGCTGCAGCTGCAGCGGCCCA	0.687													A	38227120	G	A	38227120	2	1	21	1	0	0	0	0	0	0	0	1	5166	1311	46	2		2	EPHA10	1	38227120	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	5092669	38227120	211023501	19	19754											
RLF	6018	broad.mit.edu	37	chr1	40705156	40705156	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgttgtttgcgttaagtaCggtaccaaaattaaggagga	11	5	0	0	rs145611435	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:40705156C>T	uc001cfc.3	+	8	4813	c.4782C>T	c.(4780-4782)TAC>TAT	p.Y1594Y	RLF_uc001cfd.3_Silent_p.Y1285Y	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1594					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GCGTTAAGTACGGTACCAAAA	0.428													T	40705156	C	T	40705156	2	4	21	1	0	0	0	0	0	0	0	1	13389	547	19	1		1	RLF	1	40705156	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	2478036	40705156	208545465	20	19755											
SLFNL1	200172	broad.mit.edu	37	chr1	41483496	41483496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctactcccacgagcaggctGccgccctcgctgttgaggaa	11	15	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:41483496G>A	uc001cgm.1	-	3	988	c.768C>T	c.(766-768)GGC>GGT	p.G256G	SLFNL1_uc009vwf.1_Silent_p.G256G|SLFNL1_uc001cgn.1_Silent_p.G197G|SLFNL1_uc009vwg.1_Silent_p.G256G	NM_144990	NP_659427	Q499Z3	SLNL1_HUMAN	schlafen-like 1	256							ATP binding			skin(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CGAGCAGGCTGCCGCCCTCGC	0.667													A	41483496	G	A	41483496	2	1	21	1	0	0	0	0	0	0	0	1	14738	1306	46	2		2	SLFNL1	1	41483496	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	778340	41483496	207767125	21	19756											
HIVEP3	59269	broad.mit.edu	37	chr1	42048809	42048809	+	Frame_Shift_Del	DEL	G	G	-													gctacctcggaaggggtggtGgggggtgctgatagtgcagg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:42048808_42048808TG>T	uc001cgz.4	-	3	2874	c.1661_1661CA>A	c.(1660-1662)cacfs	p.H554fs	HIVEP3_uc001cha.4_Frame_Shift_Del_p.H554fs|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	554	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GAAGGGGTGGTGGGGGGTGCT	0.627													-	42048809	G	-	42048809	7	5	21	1	0	1	0	1	0	0	0	0	7188	1348	47	0	5584	0	HIVEP3	1	42048809	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	565313	42048809	207201812	22	19757											
TIE1	7075	broad.mit.edu	37	chr1	43772883	43772883	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctacatggaggtgtctgCcacgaccatgacggcgaatg	13	11	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:43772883C>T	uc001ciu.2	+	5	790	c.711C>T	c.(709-711)TGC>TGT	p.C237C	TIE1_uc010okd.1_Silent_p.C237C|TIE1_uc010oke.1_Silent_p.C192C|TIE1_uc009vwq.2_Intron|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.1_5'UTR|TIE1_uc010okc.1_Silent_p.C237C	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	237	Extracellular (Potential).|EGF-like 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGGTGTCTGCCACGACCATG	0.632													T	43772883	C	T	43772883	2	4	21	1	0	0	0	0	0	0	0	1	15890	747	26	2		2	TIE1	1	43772883	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1724074	43772883	205477738	23	19758											
DMRTB1	63948	broad.mit.edu	37	chr1	53927224	53927224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatgcacccctactgccCgttcccgctgggctacctgg	10	18	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:53927224C>T	uc001cvq.1	+	2	711	c.656C>T	c.(655-657)CCG>CTG	p.P219L		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal,	219	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CCCTACTGCCCGTTCCCGCTG	0.657													T	53927224	C	T	53927224	3	4	21	1	0	0	0	0	1	0	0	0	4590	652	23	1	662	1	DMRTB1	1	53927224	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	10154341	53927224	195323397	24	19759											
BRDT	676	broad.mit.edu	37	chr1	92428391	92428391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaatactaagaaaaatgggcGattgacaaatcaacttcagt	7	6	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:92428391G>A	uc001dok.3	+	2	429	c.80G>A	c.(79-81)CGA>CAA	p.R27Q	BRDT_uc001dol.3_Missense_Mutation_p.R27Q|BRDT_uc010osz.1_Missense_Mutation_p.R27Q|BRDT_uc009wdf.2_Intron|BRDT_uc010ota.1_Missense_Mutation_p.R27Q|BRDT_uc010otb.1_Missense_Mutation_p.R27Q|BRDT_uc001dom.3_Missense_Mutation_p.R27Q	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAAAATGGGCGATTGACAAAT	0.378													A	92428391	G	A	92428391	3	1	21	1	0	0	0	0	1	0	0	0	1508	1058	37	1	82	1	BRDT	1	92428391	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	38501167	92428391	156822230	25	19760											
ABCA4	24	broad.mit.edu	37	chr1	94502716	94502716	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttacctcttccaggggagtGtcagaaattccaaaactgct	8	10	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:94502716G>A	uc001dqh.2	-	25	3902	c.3798C>T	c.(3796-3798)GAC>GAT	p.D1266D		NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	1266	Cytoplasmic.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCAGGGGAGTGTCAGAAATTC	0.453													A	94502716	G	A	94502716	2	1	21	1	0	0	0	0	0	0	0	1	34	1368	48	4		4	ABCA4	1	94502716	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	2074325	94502716	154747905	26	19761											
GPR61	83873	broad.mit.edu	37	chr1	110085827	110085827	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgctgtggctggcaatgcCgctgtgatggccgtgatcgc	15	11	0	2	rs138020817	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:110085827C>T	uc001dxy.2	+	2	866	c.183C>T	c.(181-183)GCC>GCT	p.A61A		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	61	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGGCAATGCCGCTGTGATGG	0.612													T	110085827	C	T	110085827	2	4	21	1	0	0	0	0	0	0	0	1	6702	639	23	1		1	GPR61	1	110085827	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	15583111	110085827	139164794	27	19762											
SLC16A4	9122	broad.mit.edu	37	chr1	110921593	110921593	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggagaaaagaccaagtAaatatgtagaagaaaggatt	11	3	0	5			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:110921593A>G	uc001dzo.1	-	6	1094	c.912T>C	c.(910-912)TTT>TTC	p.F304F	SLC16A4_uc009wfs.1_Silent_p.F256F|SLC16A4_uc001dzp.1_Intron|SLC16A4_uc010ovy.1_Silent_p.F242F|SLC16A4_uc001dzq.1_Intron|SLC16A4_uc010ovz.1_Silent_p.F194F	NM_004696	NP_004687	O15374	MOT5_HUMAN	solute carrier family 16, member 4	304	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			ovary(3)	3		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	AAGACCAAGTAAATATGTAGA	0.393													G	110921593	A	G	110921593	2	3	21	1	0	0	0	0	0	0	0	1	14410	359	13	3		3	SLC16A4	1	110921593	Silent	SNP	A	TCGA-BR-4363-01A-01D-1158-08	835766	110921593	138329028	28	19763											
HIPK1	204851	broad.mit.edu	37	chr1	114483597	114483597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcttggagttcctaggcCgggggacatttggacaggtg	16	7	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:114483597C>T	uc001eem.2	+	2	753	c.592C>T	c.(592-594)CGG>TGG	p.R198W	HIPK1_uc001eel.2_Missense_Mutation_p.R198W|HIPK1_uc001een.2_Missense_Mutation_p.R198W	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	198	Protein kinase.|ATP (Probable).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTCCTAGGCCGGGGGACATT	0.498													T	114483597	C	T	114483597	3	4	21	1	0	0	0	0	1	0	0	0	7116	643	23	1	594	1	HIPK1	1	114483597	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	3562004	114483597	134767024	29	19764											
ATP1A1	476	broad.mit.edu	37	chr1	116931263	116931263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttcttttccaaagcaaGcccttgtgattcgaaatggt	8	8	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:116931263G>A	uc001ege.2	+	6	844	c.505G>A	c.(505-507)GCC>ACC	p.A169T	ATP1A1_uc010owv.1_Missense_Mutation_p.A138T|ATP1A1_uc010oww.1_Missense_Mutation_p.A169T|ATP1A1_uc010owx.1_Missense_Mutation_p.A138T	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	169	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TCCAAAGCAAGCCCTTGTGAT	0.393													A	116931263	G	A	116931263	3	1	21	1	0	0	0	0	1	0	0	0	1128	971	34	2	543	2	ATP1A1	1	116931263	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	2447666	116931263	132319358	30	19765											
PTGFRN	5738	broad.mit.edu	37	chr1	117484649	117484649	+	Frame_Shift_Del	DEL	C	C	-													aggccactacaaatgttcaaCccccagcacagatgccactg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:117484648_117484648AC>A	uc001egv.1	+	1	498	c.361_361AC>A	c.(361-363)accfs	p.T121fs		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	121	Ig-like C2-type 1.					Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CAAATGTTCAACCCCCAGCAC	0.552													-	117484649	C	-	117484649	7	5	21	1	0	1	0	1	0	0	0	0	12750	507	18	0	368	0	PTGFRN	1	117484649	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	553386	117484649	131765972	31	19766											
TTF2	8458	broad.mit.edu	37	chr1	117632754	117632754	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctcaaagaaaggaggagAacggttaagtattttaacca	11	5	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:117632754A>G	uc001egy.2	+	14	2440	c.2420A>G	c.(2419-2421)GAA>GGA	p.E807G		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	807					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AAAGGAGGAGAACGGTTAAGT	0.448													G	117632754	A	G	117632754	3	3	21	1	0	0	0	0	1	0	0	0	16716	246	9	3	2474	3	TTF2	1	117632754	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	148105	117632754	131617867	32	19767											
PDE4DIP	9659	broad.mit.edu	37	chr1	144881535	144881535	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagcgttgtttgcattgtgAcagctgggagcgcaggtgct	15	7	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:144881535A>G	uc001elw.3	-	25	3952	c.3661T>C	c.(3661-3663)TCA>CCA	p.S1221P	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.S1177P|PDE4DIP_uc001elv.3_Missense_Mutation_p.S228P	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1221	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTGCATTGTGACAGCTGGGAG	0.542			T	PDGFRB	MPD								G	144881535	A	G	144881535	3	3	21	1	0	0	0	0	1	0	0	0	11643	275	10	3	3459	3	PDE4DIP	1	144881535	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	27248781	144881535	104369086	33	19768											
PDE4DIP	9659	broad.mit.edu	37	chr1	144915576	144915576	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcgctgtagacgctggcAcagctcctctgctatctcac	8	15	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:144915576A>G	uc001elw.3	-	14	2140	c.1849T>C	c.(1849-1851)TGC>CGC	p.C617R	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.C683R|PDE4DIP_uc001emc.1_Missense_Mutation_p.C617R|PDE4DIP_uc001emd.1_Missense_Mutation_p.C617R|PDE4DIP_uc001emb.1_Missense_Mutation_p.C780R|PDE4DIP_uc001eme.1_Missense_Mutation_p.C146R|PDE4DIP_uc001emf.1_Missense_Mutation_p.C402R	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	617	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGACGCTGGCACAGCTCCTCT	0.478			T	PDGFRB	MPD								G	144915576	A	G	144915576	3	3	21	1	0	0	0	0	1	0	0	0	11643	159	6	3	5325	3	PDE4DIP	1	144915576	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	34041	144915576	104335045	34	19769											
PI4KB	5298	broad.mit.edu	37	chr1	151288916	151288916	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggccagaagtgggctcagaAgttggcttcaagggggcagg	19	7	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:151288916A>C	uc001ext.2	-	2	457	c.42T>G	c.(40-42)ACT>ACG	p.T14T	PI4KB_uc001exr.2_Silent_p.T26T|PI4KB_uc001exs.2_Silent_p.T14T|PI4KB_uc001exu.2_Silent_p.T14T|PI4KB_uc010pcw.1_Intron|PI4KB_uc009wmq.1_Silent_p.T26T	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	catalytic phosphatidylinositol 4-kinase beta	14					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			ovary(2)|skin(2)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGGGCTCAGAAGTTGGCTTCA	0.567													C	151288916	A	C	151288916	2	2	21	1	0	0	0	0	0	0	0	1	11874	59	3	5		5	PI4KB	1	151288916	Silent	SNP	A	TCGA-BR-4363-01A-01D-1158-08	6373340	151288916	97961705	35	19770											
TDRKH	11022	broad.mit.edu	37	chr1	151747603	151747603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcaggaagctcaattgCgtatcctttgtgtactaatt	8	8	3	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:151747603C>T	uc009wnb.1	-	11	1656	c.1474G>A	c.(1474-1476)GCA>ACA	p.A492T	TDRKH_uc001eyy.2_Missense_Mutation_p.A268T|TDRKH_uc001ezb.3_Missense_Mutation_p.A488T|TDRKH_uc001ezc.3_Missense_Mutation_p.A447T|TDRKH_uc001eza.3_Missense_Mutation_p.A492T|TDRKH_uc001ezd.3_Missense_Mutation_p.A492T|TDRKH_uc010pdn.1_Missense_Mutation_p.A268T	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing isoform a	492							RNA binding			ovary(1)|pancreas(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGCTCAATTGCGTATCCTTTG	0.408													T	151747603	C	T	151747603	3	4	21	1	0	0	0	0	1	0	0	0	15734	768	27	1	223	1	TDRKH	1	151747603	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	458687	151747603	97503018	36	19771											
LCE2B	26239	broad.mit.edu	37	chr1	152659638	152659638	+	Frame_Shift_Del	DEL	G	G	-													ctggctgctgccacagctctGggggctgctgctgacctggg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:152659637_152659637TG>T	uc001fai.3	+	1	372	c.318_318TG>T	c.(316-318)tctfs	p.S106fs	LCE2B_uc021ozd.1_Frame_Shift_Del_p.S106fs	NM_014357	NP_055172	O14633	LCE2B_HUMAN	Homo sapiens late cornified envelope 2B (LCE2B), mRNA.	106	Cys-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCACAGCTCTGGGGGCTGCT	0.582													-	152659638	G	-	152659638	7	5	21	1	0	1	0	1	0	0	0	0	8666	1348	47	0	321	0	LCE2B	1	152659638	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	912035	152659638	96590983	37	19772											
S100A8	6279	broad.mit.edu	37	chr1	153362988	153362988	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgtcgatgatagagttcaaGgctttctccagctcggtcaa	10	10	3	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:153362988G>T	uc001fbs.2	-	2	79	c.24C>A	c.(22-24)GCC>GCA	p.A8A		NM_002964	NP_002955	P05109	S10A8_HUMAN	S100 calcium-binding protein A8	8					chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding				0	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TAGAGTTCAAGGCTTTCTCCA	0.507													T	153362988	G	T	153362988	2	4	21	1	0	0	0	0	0	0	0	1	13786	987	35	5		5	S100A8	1	153362988	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	703350	153362988	95887633	38	19773											
ILF2	3608	broad.mit.edu	37	chr1	153634950	153634952	+	In_Frame_Del	DEL	CTT	CTT	-													tcctcttcttcctctccttcCttcttctctggtggcttctc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:153634950_153634952delCTT	uc001fcr.2	-	14	1174_1176	c.1093_1095delAAG	c.(1093-1095)AAGdel	p.K365del	ILF2_uc010pdy.1_In_Frame_Del_p.K327del|ILF2_uc009wok.2_In_Frame_Del_p.K343del	NM_004515	NP_004506	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	365					immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			cctctccttccttcttctCTGGT	0.296													-	153634952	CTT	-	153634950	7	5	21	1	0	1	0	1	0	0	0	0	7711	680	24	0	81	0	ILF2	1	153634950	In_Frame_Del	DEL	CTT	TCGA-BR-4363-01A-01D-1158-08	271962	153634950	95615671	39	19774											
CHRNB2	1141	broad.mit.edu	37	chr1	154543725	154543725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtctcctatgatggcagCatcttctggctgccgcctgc	12	13	3	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:154543725C>T	uc001ffg.2	+	5	690	c.426C>T	c.(424-426)AGC>AGT	p.S142S		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	142	Extracellular (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	ATGATGGCAGCATCTTCTGGC	0.532													T	154543725	C	T	154543725	2	4	21	1	0	0	0	0	0	0	0	1	3391	709	25	2		2	CHRNB2	1	154543725	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	908775	154543725	94706896	40	19775											
ASH1L	55870	broad.mit.edu	37	chr1	155450332	155450332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaactttggcaatcggcGtttaaggaagtcatgatcta	10	8	3	1	rs150671158	by1000genomes	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:155450332G>A	uc009wqq.2	-	3	2809	c.2329C>T	c.(2329-2331)CGC>TGC	p.R777C	ASH1L_uc001fkt.2_Missense_Mutation_p.R777C|ASH1L_uc009wqr.1_Missense_Mutation_p.R777C	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	777					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGCAATCGGCGTTTAAGGAAG	0.393													A	155450332	G	A	155450332	3	1	21	1	0	0	0	0	1	0	0	0	1041	1145	40	1	6669	1	ASH1L	1	155450332	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	906607	155450332	93800289	41	19776											
NES	10763	broad.mit.edu	37	chr1	156640235	156640235	+	Frame_Shift_Del	DEL	C	C	-													ggcttcagccctcccctgcaCcccccagctagcctcctgac							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:156640234_156640234AC>A	uc001fpq.3	-	3	3879	c.3746_3746GT>T	c.(3745-3747)gtgfs	p.V1249fs	NES_uc021pbh.1_Frame_Shift_Del_p.V167fs	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1249	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCCCCTGCACCCCCCAGCT	0.667													-	156640235	C	-	156640235	7	5	21	1	0	1	0	1	0	0	0	0	10337	507	18	0	1124	0	NES	1	156640235	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	1189903	156640235	92610386	42	19777											
NTRK1	4914	broad.mit.edu	37	chr1	156846308	156846308	+	Frame_Shift_Del	DEL	C	C	-													ggcgtctgcaccgagggccgCcccctgctcatggtctttga							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:156846307_156846307GC>G	uc001fqh.1	+	13	1804	c.1748_1748GC>G	c.(1747-1749)cgcfs	p.R583fs	NTRK1_uc001fqf.1_Frame_Shift_Del_p.R547fs|NTRK1_uc009wsi.1_Frame_Shift_Del_p.R282fs|NTRK1_uc001fqi.1_Frame_Shift_Del_p.R577fs|NTRK1_uc009wsk.1_Frame_Shift_Del_p.R580fs	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	583	Protein kinase.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.R583G(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	ACCGAGGGCCGCCCCCTGCTC	0.662			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			-	156846308	C	-	156846308	7	5	21	1	0	1	0	1	0	0	0	0	10706	726	26	0	1933	0	NTRK1	1	156846308	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	206073	156846308	92404313	43	19778											
IFI16	3428	broad.mit.edu	37	chr1	158988127	158988127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagccatttgaatatgagAccccagaaatggagaaaaaa	8	7	0	4			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:158988127A>G	uc001ftf.1	+	6	1265	c.658A>G	c.(658-660)ACC>GCC	p.T220A	IFI16_uc001ftg.2_Missense_Mutation_p.T220A|IFI16_uc010pis.1_Missense_Mutation_p.T164A	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	220	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)					TGAATATGAGACCCCAGAAAT	0.403													G	158988127	A	G	158988127	3	3	21	1	0	0	0	0	1	0	0	0	7511	275	10	3	672	3	IFI16	1	158988127	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	2141819	158988127	90262494	44	19779											
CCDC19	25790	broad.mit.edu	37	chr1	159846359	159846359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctaccgaagaatcctctCgaactcatcccggtcccgtt	6	17	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:159846359C>T	uc001fui.2	-	10	1357	c.1339G>A	c.(1339-1341)GAG>AAG	p.E447K	CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.E362K|CCDC19_uc001ful.2_Missense_Mutation_p.E362K|CCDC19_uc009wtc.1_3'UTR	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	447	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			AGAATCCTCTCGAACTCATCC	0.537													T	159846359	C	T	159846359	3	4	21	1	0	0	0	0	1	0	0	0	2795	893	31	1	328	1	CCDC19	1	159846359	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	858232	159846359	89404262	45	19780											
NR1I3	9970	broad.mit.edu	37	chr1	161201029	161201029	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctacctggaaccccactgtgGgagatactaggattaggagc	12	10	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:161201029G>T	uc001fzx.2	-	7	904	c.701C>A	c.(700-702)CCC>CAC	p.P234H	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Intron|NR1I3_uc001fzg.2_Intron|NR1I3_uc001fzh.2_Intron|NR1I3_uc001fzi.2_Intron|NR1I3_uc001fzj.2_Intron|NR1I3_uc001fzk.2_Intron|NR1I3_uc001fzl.2_Intron|NR1I3_uc001fzm.2_Intron|NR1I3_uc001fzn.2_Intron|NR1I3_uc009wug.2_Intron|NR1I3_uc001fzp.2_Missense_Mutation_p.P234H|NR1I3_uc001fzo.2_Intron|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Missense_Mutation_p.P234H|NR1I3_uc001fzy.2_Intron|NR1I3_uc001fzz.2_Intron|NR1I3_uc001gaa.2_Intron|NR1I3_uc001gab.2_Intron|NR1I3_uc001gac.2_Missense_Mutation_p.P205H|NR1I3_uc010pkm.1_Intron|NR1I3_uc010pkn.1_3'UTR	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2	234					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCCCACTGTGGGAGATACTAG	0.517													T	161201029	G	T	161201029	3	4	21	1	0	0	0	0	1	0	0	0	10621	1232	43	5	479	5	NR1I3	1	161201029	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1354670	161201029	88049592	46	19781											
ALDH9A1	223	broad.mit.edu	37	chr1	165638534	165638534	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgacaaacccaaggactcGctccaggtgtggtcggttga	12	10	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:165638534G>A	uc001gdh.1	-	7	1189	c.1084C>T	c.(1084-1086)CGA>TGA	p.R362*	ALDH9A1_uc010pky.1_Nonsense_Mutation_p.R268*|ALDH9A1_uc010pkz.1_Nonsense_Mutation_p.R352*|ALDH9A1_uc010pla.1_Nonsense_Mutation_p.R268*	NM_000696	NP_000687	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9A1	338					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	CCAAGGACTCGCTCCAGGTGT	0.463													A	165638534	G	A	165638534	4	1	21	1	0	0	0	0	0	1	0	0	506	1095	38	1	492	1	ALDH9A1	1	165638534	Nonsense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	4437505	165638534	83612087	47	19782											
GPR161	23432	broad.mit.edu	37	chr1	168054869	168054869	+	Frame_Shift_Del	DEL	C	C	-													ctcggcggcccccgaagccgCcccccgggacagtccgtgct							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:168054868_168054868GC>G	uc010pln.2	-	6	2085	c.1551_1551GC>C	c.(1549-1551)ggcfs	p.G517fs	GPR161_uc001gfb.3_Frame_Shift_Del_p.G365fs|GPR161_uc001gfc.3_Frame_Shift_Del_p.G497fs|GPR161_uc010pll.2_Frame_Shift_Del_p.G407fs|GPR161_uc010plm.2_Frame_Shift_Del_p.G383fs|GPR161_uc009wvo.3_Frame_Shift_Del_p.G514fs|GPR161_uc001gfd.3_Frame_Shift_Del_p.G497fs	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	497					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCCCGAAGCCGCCCCCCGGGA	0.582													-	168054869	C	-	168054869	7	5	21	1	0	1	0	1	0	0	0	0	6665	739	26	0	103	0	GPR161	1	168054869	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	2416335	168054869	81195752	48	19783											
KLHL20	27252	broad.mit.edu	37	chr1	173720977	173720977	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatccagtgatgagctaaaCgttcgcagtgaagaacaagt	10	7	0	4			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:173720977C>T	uc001gjc.2	+	4	851	c.672C>T	c.(670-672)AAC>AAT	p.N224N	KLHL20_uc010pmr.1_Silent_p.N35N|KLHL20_uc009wwf.2_Silent_p.N206N	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	kelch-like 20	224	BACK.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			ovary(1)	1						ATGAGCTAAACGTTCGCAGTG	0.398													T	173720977	C	T	173720977	2	4	21	1	0	0	0	0	0	0	0	1	8375	535	19	1		1	KLHL20	1	173720977	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	5666108	173720977	75529644	49	19784											
ASTN1	460	broad.mit.edu	37	chr1	176926923	176926923	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaaggaatctaagagaAcctccaggctgtcgaaggag	12	10	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:176926923A>G	uc001glc.2	-	11	1990	c.1778T>C	c.(1777-1779)GTT>GCT	p.V593A	ASTN1_uc001glb.1_Missense_Mutation_p.V593A|ASTN1_uc001gld.1_Missense_Mutation_p.V593A|ASTN1_uc009wwx.1_Missense_Mutation_p.V593A	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	601					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						ATCTAAGAGAACCTCCAGGCT	0.527													G	176926923	A	G	176926923	3	3	21	1	0	0	0	0	1	0	0	0	1064	43	2	3	2162	3	ASTN1	1	176926923	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	3205946	176926923	72323698	50	19785											
RALGPS2	55103	broad.mit.edu	37	chr1	178854243	178854243	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgtctccacagagtggaCgaaaaagtgtggcagctgaa	14	8	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:178854243C>T	uc001glz.2	+	12	1275	c.937C>T	c.(937-939)CGA>TGA	p.R313*	RALGPS2_uc010pnb.1_Nonsense_Mutation_p.R313*	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	313					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding				0						ACAGAGTGGACGAAAAAGTGT	0.433													T	178854243	C	T	178854243	4	4	21	1	0	0	0	0	0	1	0	0	13018	528	19	1	979	1	RALGPS2	1	178854243	Nonsense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1927320	178854243	70396378	51	19786											
LAMC1	3915	broad.mit.edu	37	chr1	183111832	183111832	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggactataaccgagatatCgaggagatcatgaaggacat	11	6	1	3	rs139212722		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:183111832C>T	uc001gpy.3	+	28	4994	c.4737C>T	c.(4735-4737)ATC>ATT	p.I1579I		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	1579	Potential.|Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCGAGATATCGAGGAGATCA	0.473													T	183111832	C	T	183111832	2	4	21	1	0	0	0	0	0	0	0	1	8614	874	31	1		1	LAMC1	1	183111832	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	4257589	183111832	66138789	52	19787											
RGS13	6003	broad.mit.edu	37	chr1	192628502	192628502	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcgacaagagagactatcaTcaggaacattcaggaaccca	8	10	3	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:192628502T>C	uc001gsj.2	+	7	610	c.329T>C	c.(328-330)ATC>ACC	p.I110T	RGS13_uc001gsk.2_Missense_Mutation_p.I110T	NM_002927	NP_002918	O14921	RGS13_HUMAN	regulator of G-protein signalling 13	110	RGS.					plasma membrane	GTPase activator activity|signal transducer activity				0						GAGACTATCATCAGGAACATT	0.353													C	192628502	T	C	192628502	3	2	21	1	0	0	0	0	1	0	0	0	13296	1435	50	3	343	3	RGS13	1	192628502	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	9516670	192628502	56622119	53	19788											
ASPM	259266	broad.mit.edu	37	chr1	197060039	197060039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttacggaggagaaaatggcGcactgctttctgtattactg	11	7	1	1	rs140679756		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:197060039G>A	uc001gtu.2	-	23	9834	c.9577C>T	c.(9577-9579)CGC>TGC	p.R3193C	ASPM_uc001gtv.2_Missense_Mutation_p.R1608C|ASPM_uc001gtw.3_Missense_Mutation_p.R1041C	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	3193	IQ 38.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						AGAAAATGGCGCACTGCTTTC	0.343													A	197060039	G	A	197060039	3	1	21	1	0	0	0	0	1	0	0	0	1056	1087	38	1	880	1	ASPM	1	197060039	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	4431537	197060039	52190582	54	19789											
C1orf106	55765	broad.mit.edu	37	chr1	200880598	200880598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtggattccttccgggCgggtcctgagggccgaggtc	18	11	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:200880598C>T	uc001gvo.2	+	9	1262	c.1232C>T	c.(1231-1233)GCG>GTG	p.A411V	C1orf106_uc010ppm.1_Missense_Mutation_p.A326V	NM_018265	NP_060735	Q3KP66	CA106_HUMAN	hypothetical protein LOC55765 isoform 1	411										skin(2)|ovary(1)	3						TCCTTCCGGGCGGGTCCTGAG	0.642													T	200880598	C	T	200880598	3	4	21	1	0	0	0	0	1	0	0	0	1980	768	27	1	1266	1	C1orf106	1	200880598	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	3820559	200880598	48370023	55	19790											
UBE2T	29089	broad.mit.edu	37	chr1	202304780	202304780	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatttgatacctacgagctcGcaggtcatccatttggtctt	9	10	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:202304780G>A	uc001gxx.3	-	2	239	c.103C>T	c.(103-105)CGA>TGA	p.R35*		NM_014176	NP_054895	Q9NPD8	UBE2T_HUMAN	ubiquitin-conjugating enzyme E2T	35					DNA repair|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	nucleoplasm	ATP binding|ubiquitin-protein ligase activity				0						CTACGAGCTCGCAGGTCATCC	0.433													A	202304780	G	A	202304780	4	1	21	1	0	0	0	0	0	1	0	0	16870	1095	38	1	514	1	UBE2T	1	202304780	Nonsense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1424182	202304780	46945841	56	19791											
KDM5B	10765	broad.mit.edu	37	chr1	202731839	202731839	+	Frame_Shift_Del	DEL	T	T	-													tcactcacagcattggtggcTtttttagatcgactcttggg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:202731838_202731838CT>C	uc009xag.3	-	7	1131	c.1015_1015AG>G	c.(1015-1017)gccfs	p.A339fs	KDM5B_uc001gyf.3_Frame_Shift_Del_p.A303fs|KDM5B_uc001gyg.1_Frame_Shift_Del_p.A145fs	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	303					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GCATTGGTGGCTTTTTTAGAT	0.383													-	202731839	T	-	202731839	7	5	21	1	0	1	0	1	0	0	0	0	8134	1606	56	0	3812	0	KDM5B	1	202731839	Frame_Shift_Del	DEL	T	TCGA-BR-4363-01A-01D-1158-08	427059	202731839	46518782	57	19792											
ATP2B4	493	broad.mit.edu	37	chr1	203667346	203667346	+	Frame_Shift_Del	DEL	C	C	-													gtgtttggacacaacgtgatCccccccaaaaagcccaagac							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:203667345_203667345TC>T	uc001gzw.3	+	2	1151	c.254_254TC>T	c.(253-255)atcfs	p.I85fs	ATP2B4_uc001gzv.3_Frame_Shift_Del_p.I85fs|ATP2B4_uc009xaq.3_Frame_Shift_Del_p.I85fs	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	85					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAA	0.478													-	203667346	C	-	203667346	7	5	21	1	0	1	0	1	0	0	0	0	1142	845	30	0	261	0	ATP2B4	1	203667346	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	935507	203667346	45583275	58	19793											
PIK3C2B	5287	broad.mit.edu	37	chr1	204413529	204413529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatccactgcacagccataCgacgcacctcctggtccggg	9	17	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:204413529C>T	uc001haw.2	-	18	3181	c.2702G>A	c.(2701-2703)CGT>CAT	p.R901H	PIK3C2B_uc010pqv.1_Missense_Mutation_p.R873H	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	901					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CACAGCCATACGACGCACCTC	0.587													T	204413529	C	T	204413529	3	4	21	1	0	0	0	0	1	0	0	0	11910	536	19	1	2270	1	PIK3C2B	1	204413529	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	746183	204413529	44837092	59	19794											
C1orf107	27042	broad.mit.edu	37	chr1	210006641	210006641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaacacgagtcactgttcaGcctggaaaccaattttctgg	8	10	3	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:210006641G>A	uc001hhr.1	+	4	576	c.500G>A	c.(499-501)AGC>AAC	p.S167N	C1orf107_uc009xcu.1_5'UTR	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	digestive-organ expansion factor homolog	167	Glu-rich.				multicellular organismal development	nucleus					0				OV - Ovarian serous cystadenocarcinoma(81;0.0367)		TCACTGTTCAGCCTGGAAACC	0.478													A	210006641	G	A	210006641	3	1	21	1	0	0	0	0	1	0	0	0	1981	971	34	2	514	2	C1orf107	1	210006641	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	5593112	210006641	39243980	60	19795											
NVL	4931	broad.mit.edu	37	chr1	224495799	224495799	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaataaaccatcctcctTcagaatctttggcaggggtc	8	11	3	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:224495799T>C	uc001hok.2	-	6	552	c.509A>G	c.(508-510)GAA>GGA	p.E170G	NVL_uc001hol.2_Missense_Mutation_p.E64G|NVL_uc010pvd.1_Intron|NVL_uc010pve.1_Intron|NVL_uc010pvf.1_RNA	NM_002533	NP_002524	O15381	NVL_HUMAN	nuclear VCP-like isoform 1	170						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			skin(2)	2				GBM - Glioblastoma multiforme(131;0.00501)		CCATCCTCCTTCAGAATCTTT	0.423													C	224495799	T	C	224495799	3	2	21	1	0	0	0	0	1	0	0	0	10780	1783	62	3	2133	3	NVL	1	224495799	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	14489158	224495799	24754822	61	19796											
JMJD4	65094	broad.mit.edu	37	chr1	227920368	227920368	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgatgcccgagcaggaccTcatgatgacctgggcagagg	15	10	1	4			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:227920368T>G	uc001hrb.2	-	6	1117	c.1117A>C	c.(1117-1119)AGG>CGG	p.R373R	SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_5'Flank|SNAP47_uc001hre.2_5'Flank|SNAP47_uc001hrf.2_5'Flank|LOC100130093_uc001hqx.3_RNA|LOC100130093_uc001hqy.3_RNA|JMJD4_uc001hrc.2_Silent_p.R357R	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4 isoform 1	373											0		Prostate(94;0.0885)				GAGCAGGACCTCATGATGACC	0.582													G	227920368	T	G	227920368	2	3	21	1	0	0	0	0	0	0	0	1	7951	1550	54	5		5	JMJD4	1	227920368	Silent	SNP	T	TCGA-BR-4363-01A-01D-1158-08	3424569	227920368	21330253	62	19797											
PRSS38	339501	broad.mit.edu	37	chr1	228003829	228003829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggggaaaatcctgggcGgcgtccctgcgcccgagagg	18	11	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:228003829G>A	uc001hrh.2	+	2	187	c.187G>A	c.(187-189)GGC>AGC	p.G63S		NM_183062	NP_898885	A1L453	PRS38_HUMAN	marapsin 2 precursor	63	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)|pancreas(1)	2						AATCCTGGGCGGCGTCCCTGC	0.612													A	228003829	G	A	228003829	3	1	21	1	0	0	0	0	1	0	0	0	12627	1116	39	1	193	1	PRSS38	1	228003829	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	83461	228003829	21246792	63	19798											
OBSCN	84033	broad.mit.edu	37	chr1	228404718	228404718	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcctgtgtcctgcaggcctCgcgcgctttctgcacaagga	12	14	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:228404718C>T	uc009xez.1	+	8	2426	c.2382C>T	c.(2380-2382)CTC>CTT	p.L794L	OBSCN_uc001hsn.2_Silent_p.L794L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	794					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CTGCAGGCCTCGCGCGCTTTC	0.652													T	228404718	C	T	228404718	2	4	21	1	0	0	0	0	0	0	0	1	10812	871	31	1		1	OBSCN	1	228404718	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	400889	228404718	20845903	64	19799											
ABCB10	23456	broad.mit.edu	37	chr1	229685122	229685122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgacatcaatgatcttccCcaggaagaaaggggcagaca	11	9	2	4			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:229685122C>T	uc001htp.3	-	2	620	c.577G>A	c.(577-579)GGG>AGG	p.G193R		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	193	Mitochondrial intermembrane (Potential).|Mitochondrial matrix (Potential).|ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				ATGATCTTCCCCAGGAAGAAA	0.517													T	229685122	C	T	229685122	3	4	21	1	0	0	0	0	1	0	0	0	41	623	22	4	1687	4	ABCB10	1	229685122	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1280404	229685122	19565499	65	19800											
C1orf198	84886	broad.mit.edu	37	chr1	230979323	230979323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttggcctccctgtccttcGgggcaggttcctgccggtag	13	15	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:230979323G>A	uc001hub.2	-	3	748	c.704C>T	c.(703-705)CCG>CTG	p.P235L	C1orf198_uc009xfh.1_Missense_Mutation_p.P105L|C1orf198_uc001huc.1_Missense_Mutation_p.P18L|C1orf198_uc001hud.1_Missense_Mutation_p.P197L	NM_032800	NP_116189	Q9H425	CA198_HUMAN	hypothetical protein LOC84886 isoform 1	235											0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CCTGTCCTTCGGGGCAGGTTC	0.637													A	230979323	G	A	230979323	3	1	21	1	0	0	0	0	1	0	0	0	2026	1116	39	1	287	1	C1orf198	1	230979323	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1294201	230979323	18271298	66	19801											
LYST	1130	broad.mit.edu	37	chr1	235973738	235973741	+	Frame_Shift_Del	DEL	CTTC	CTTC	-													aaacctgactagacagggcaCttccttctaaatgtaatttt							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:235973737_235973740ACTTC>A	uc001hxj.2	-	4	553_556	c.378_381GAAGT>T	c.(376-381)ggaagtfs	p.G126fs	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Frame_Shift_Del_p.G126fs	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	126					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TAGACAGGGCACTTCCTTCTAAAT	0.377													-	235973741	CTTC	-	235973738	7	5	21	1	0	1	0	1	0	0	0	0	9128	565	20	0	11221	0	LYST	1	235973738	Frame_Shift_Del	DEL	CTTC	TCGA-BR-4363-01A-01D-1158-08	4994415	235973738	13276883	67	19802											
RYR2	6262	broad.mit.edu	37	chr1	237617790	237617790	+	Frame_Shift_Del	DEL	C	C	-													gatctcattggctacttccaCcccccagatgagcatttaga							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:237617789_237617789AC>A	uc001hyl.1	+	14	1511	c.1391_1391AC>A	c.(1390-1392)cacfs	p.H464fs		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	464					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCTACTTCCACCCCCCAGAT	0.488													-	237617790	C	-	237617790	7	5	21	1	0	1	0	1	0	0	0	0	13769	506	18	0	1450	0	RYR2	1	237617790	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	1644052	237617790	11632831	68	19803											
RYR2	6262	broad.mit.edu	37	chr1	237666765	237666765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccccacagtttccctgaCgcaagctgccttcacaccca	8	18	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:237666765C>T	uc001hyl.1	+	22	2693	c.2573C>T	c.(2572-2574)ACG>ATG	p.T858M		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	858	Cytoplasmic (By similarity).|1.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTTCCCTGACGCAAGCTGCC	0.493													T	237666765	C	T	237666765	3	4	21	1	0	0	0	0	1	0	0	0	13769	536	19	1	2659	1	RYR2	1	237666765	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	48975	237666765	11583856	69	19804											
FMN2	56776	broad.mit.edu	37	chr1	240492398	240492398	+	Frame_Shift_Del	DEL	A	A	-													agcacagtcagacgaactcgAaaaaatagaaaagcatggcc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:240492397_240492397GA>G	uc010pye.2	+	9	4474	c.4249_4249GA>G	c.(4249-4251)gaafs	p.E1417fs	FMN2_uc010pyd.2_Frame_Shift_Del_p.E1413fs|FMN2_uc010pyf.1_Frame_Shift_Del_p.E59fs|FMN2_uc010pyg.2_Frame_Shift_Del_p.E9fs	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1413	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.G1416V(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGACGAACTCGAAAAAATAGA	0.378													-	240492398	A	-	240492398	7	5	21	1	0	1	0	1	0	0	0	0	5950	246	9	0	4272	0	FMN2	1	240492398	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	2825633	240492398	8758223	70	19805											
KIF26B	55083	broad.mit.edu	37	chr1	245848974	245848974	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctatcgtgccagccctgCagaagacccggggcgacagc	12	16	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:245848974C>T	uc001ibf.1	+	12	3129	c.2689C>T	c.(2689-2691)CAG>TAG	p.Q897*	KIF26B_uc001ibg.1_Nonsense_Mutation_p.Q515*|KIF26B_uc001ibh.1_Nonsense_Mutation_p.Q139*	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	897					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCCAGCCCTGCAGAAGACCCG	0.647													T	245848974	C	T	245848974	4	4	21	1	0	0	0	0	0	1	0	0	8295	711	25	2	2735	2	KIF26B	1	245848974	Nonsense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	5356576	245848974	3401647	71	19806											
OR2G3	81469	broad.mit.edu	37	chr1	247769005	247769005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctacctcctgacccttGtgggaaacttcaccataatc	5	14	3	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:247769005G>A	uc010pyz.1	+	1	118	c.118G>A	c.(118-120)GTG>ATG	p.V40M		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCTGACCCTTGTGGGAAACTT	0.448													A	247769005	G	A	247769005	3	1	21	1	0	0	0	0	1	0	0	0	10999	1377	48	4	120	4	OR2G3	1	247769005	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1920031	247769005	1481616	72	19807											
OR2W3	343171	broad.mit.edu	37	chr1	248059733	248059733	+	Frame_Shift_Del	DEL	C	C	-													gctcttctacaacattgtcaCccccctcctcaatcctctca							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:248059732_248059732AC>A	uc010pzb.2	+	0	844	c.844_844AC>A	c.(844-846)accfs	p.T282fs	OR2W3_uc001idp.1_Frame_Shift_Del_p.T282fs	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAACATTGTCACCCCCCTCCT	0.512													-	248059733	C	-	248059733	7	5	21	1	0	1	0	1	0	0	0	0	11033	507	18	0	847	0	OR2W3	1	248059733	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	290728	248059733	1190888	73	19808											
OR2T4	127074	broad.mit.edu	37	chr1	248525681	248525681	+	Frame_Shift_Del	DEL	A	A	-													tgaactcagcagagggccggAaaaaggcctttgccacctgc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:248525680_248525680GA>G	uc001ieh.1	+	0	798	c.798_798GA>G	c.(796-798)cggfs	p.R266fs		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGAGGGCCGGAAAAAGGCCT	0.552													-	248525681	A	-	248525681	7	5	21	1	0	1	0	1	0	0	0	0	11027	247	9	0	801	0	OR2T4	1	248525681	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	465948	248525681	724940	74	19809											
SMC6	79677	broad.mit.edu	37	chr2	17847726	17847726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagataaactgtctaaaaCgctgggaatctgccatcttc	8	10	3	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:17847726C>T	uc002rco.2	-	27	3418	c.3122G>A	c.(3121-3123)CGT>CAT	p.R1041H	SMC6_uc010exo.2_Missense_Mutation_p.R1041H|SMC6_uc002rcn.2_Missense_Mutation_p.R1041H	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	1041					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGTCTAAAACGCTGGGAATC	0.348													T	17847726	C	T	17847726	3	4	21	1	0	0	0	0	1	0	0	0	14787	536	19	1	161	1	SMC6	2	17847726	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08		17847726	225351647	75	19810											
C2orf43	60526	broad.mit.edu	37	chr2	20990057	20990057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtctttgggagccaacgCatgcccagcatgactgatag	11	11	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:20990057C>T	uc002rec.2	-	3	289	c.256G>A	c.(256-258)GCG>ACG	p.A86T	C2orf43_uc002rea.1_Missense_Mutation_p.A86T|C2orf43_uc002reb.1_RNA|C2orf43_uc010yka.1_Intron|C2orf43_uc010ykb.1_5'UTR|C2orf43_uc010ykc.1_Intron|C2orf43_uc010ykd.1_Missense_Mutation_p.A86T|C2orf43_uc010yke.1_Intron|C2orf43_uc010ykf.1_Intron	NM_021925	NP_068744	Q9H6V9	CB043_HUMAN	hypothetical protein LOC60526	86											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGCCAACGCATGCCCAGCA	0.423													T	20990057	C	T	20990057	3	4	21	1	0	0	0	0	1	0	0	0	2167	710	25	2	741	2	C2orf43	2	20990057	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	3142331	20990057	222209316	76	19811											
C2orf43	60526	broad.mit.edu	37	chr2	21001136	21001136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaaagaggtctgtccaggGcccacattttagaacctggg	12	9	1	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:21001136G>A	uc002rec.2	-	2	121	c.88C>T	c.(88-90)CCC>TCC	p.P30S	C2orf43_uc002rea.1_Missense_Mutation_p.P30S|C2orf43_uc002reb.1_Intron|C2orf43_uc010yka.1_Missense_Mutation_p.P30S|C2orf43_uc010ykb.1_Intron|C2orf43_uc010ykc.1_Missense_Mutation_p.P30S|C2orf43_uc010ykd.1_Missense_Mutation_p.P30S|C2orf43_uc010yke.1_Missense_Mutation_p.P30S|C2orf43_uc010ykf.1_Intron	NM_021925	NP_068744	Q9H6V9	CB043_HUMAN	hypothetical protein LOC60526	30											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGTCCAGGGCCCACATTTT	0.433													A	21001136	G	A	21001136	3	1	21	1	0	0	0	0	1	0	0	0	2167	1203	42	2	913	2	C2orf43	2	21001136	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	11079	21001136	222198237	77	19812											
KIF3C	3797	broad.mit.edu	37	chr2	26174773	26174773	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagttctcgatgattaggtAcctgggagcaggaatgaagg	15	5	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:26174773A>G	uc002rgu.2	-	5	2548	c.1891T>C	c.(1891-1893)TAC>CAC	p.Y631H	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.Y631H	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	631	Globular (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)					ATGATTAGGTACCTGGGAGCA	0.522													G	26174773	A	G	26174773	3	3	21	1	0	0	0	0	1	0	0	0	8302	405	14	3	506	3	KIF3C	2	26174773	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	5173637	26174773	217024600	78	19813											
IFT172	26160	broad.mit.edu	37	chr2	27695182	27695182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttccagccaatccacacGgctctcatggctgacggtgc	10	14	1	1	rs143520040		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:27695182G>A	uc002rku.2	-	15	1510	c.1459C>T	c.(1459-1461)CGT>TGT	p.R487C	IFT172_uc002rkw.2_Missense_Mutation_p.R487C|IFT172_uc010yls.1_Missense_Mutation_p.R466C|IFT172_uc010ezc.2_Missense_Mutation_p.R487C|IFT172_uc002rkv.2_Missense_Mutation_p.R461C	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	487	WD 8.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CAATCCACACGGCTCTCATGG	0.478													A	27695182	G	A	27695182	3	1	21	1	0	0	0	0	1	0	0	0	7557	1116	39	1	3926	1	IFT172	2	27695182	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1520409	27695182	215504191	79	19814											
SLC4A1AP	22950	broad.mit.edu	37	chr2	27887073	27887073	+	Frame_Shift_Del	DEL	C	C	-													ctggcggtccagcccgggctCccccctaccaagagcctcca							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:27887072_27887072TC>T	uc002rlk.4	+	0	735	c.453_453TC>T	c.(451-453)gctfs	p.A151fs	SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein (SLC4A1AP), mRNA.	151						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					CAGCCCGGGCTCCCCCCTACC	0.647													-	27887073	C	-	27887073	7	5	21	1	0	1	0	1	0	0	0	0	14653	855	30	0	456	0	SLC4A1AP	2	27887073	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	191891	27887073	215312300	80	19815											
GALNT14	79623	broad.mit.edu	37	chr2	31154985	31154985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacgtaggggtgcttcttcCggaagacgtgccccactcgg	13	12	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:31154985C>T	uc002rnr.2	-	10	1626	c.1007G>A	c.(1006-1008)CGG>CAG	p.R336Q	GALNT14_uc002rnq.2_Missense_Mutation_p.R316Q|GALNT14_uc002rns.2_Missense_Mutation_p.R341Q|GALNT14_uc010ymr.1_Missense_Mutation_p.R301Q|GALNT14_uc010ezo.1_Missense_Mutation_p.R303Q|GALNT14_uc010ezp.1_3'UTR	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	336	Lumenal (Potential).|Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					GTGCTTCTTCCGGAAGACGTG	0.592													T	31154985	C	T	31154985	3	4	21	1	0	0	0	0	1	0	0	0	6212	652	23	1	675	1	GALNT14	2	31154985	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	3267912	31154985	212044388	81	19816											
RASGRP3	25780	broad.mit.edu	37	chr2	33783395	33783395	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgcctggaagcccctcgcTgcccccaggtaatgccctct	9	18	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:33783395T>C	uc002rox.2	+	17	2324	c.1697T>C	c.(1696-1698)CTG>CCG	p.L566P	RASGRP3_uc010ync.1_Missense_Mutation_p.L566P|RASGRP3_uc002roy.2_Missense_Mutation_p.L565P	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and	566					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			lung(3)|ovary(1)|pancreas(1)	5	all_hematologic(175;0.115)					AGCCCCTCGCTGCCCCCAGGT	0.577													C	33783395	T	C	33783395	3	2	21	1	0	0	0	0	1	0	0	0	13076	1580	55	3	1751	3	RASGRP3	2	33783395	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	2628410	33783395	209415978	82	19817											
OXER1	165140	broad.mit.edu	37	chr2	42990108	42990108	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcactttcagcttcccTatggcctccgccttcctaga	6	18	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:42990108T>C	uc002rss.2	-	1	1294	c.1212A>G	c.(1210-1212)ATA>ATG	p.I404M		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	G-protein coupled receptor TG1019	404	Cytoplasmic (Potential).				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)	1						TCAGCTTCCCTATGGCCTCCG	0.677													C	42990108	T	C	42990108	3	2	21	1	0	0	0	0	1	0	0	0	11331	1512	53	3	63	3	OXER1	2	42990108	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	9206713	42990108	200209265	83	19818											
GPR75	10936	broad.mit.edu	37	chr2	54081206	54081206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgacttgagcgttcttccGcagggtctgagcaatcatga	11	10	4	4	rs143781055		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:54081206G>A	uc002rxo.3	-	2	959	c.688C>T	c.(688-690)CGG>TGG	p.R230W	ASB3_uc002rxi.3_Intron	NM_006794	NP_006785	O95800	GPR75_HUMAN	G protein-coupled receptor 75	230	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|skin(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCGTTCTTCCGCAGGGTCTGA	0.522													A	54081206	G	A	54081206	3	1	21	1	0	0	0	0	1	0	0	0	6708	1086	38	1	938	1	GPR75	2	54081206	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	11091098	54081206	189118167	84	19819											
USP34	9736	broad.mit.edu	37	chr2	61416142	61416142	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctcttgcagagttggaatTagagctgggtttaactgttt	12	5	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:61416142T>C	uc002sbe.2	-	79	9958	c.9936A>G	c.(9934-9936)CTA>CTG	p.L3312L	USP34_uc002sbd.2_Silent_p.L114L	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	3312					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			GAGTTGGAATTAGAGCTGGGT	0.423													C	61416142	T	C	61416142	2	2	21	1	0	0	0	0	0	0	0	1	17062	1741	61	3		3	USP34	2	61416142	Silent	SNP	T	TCGA-BR-4363-01A-01D-1158-08	7334936	61416142	181783231	85	19820											
C2orf42	54980	broad.mit.edu	37	chr2	70392254	70392254	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctaagatttgtttaacttgCaggatattagtgatatgcca	8	5	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:70392254C>A	uc002sgh.2	-	8	1651	c.1323G>T	c.(1321-1323)CTG>CTT	p.L441L		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	441											0						GTTTAACTTGCAGGATATTAG	0.408													A	70392254	C	A	70392254	2	1	21	1	0	0	0	0	0	0	0	1	2166	697	25	5		5	C2orf42	2	70392254	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	8976112	70392254	172807119	86	19821											
C2orf42	54980	broad.mit.edu	37	chr2	70408792	70408792	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaccgtccagagctcagcTgagtgatgatcgtcccatcc	9	14	1	4			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:70408792T>C	uc002sgh.2	-	3	654	c.326A>G	c.(325-327)CAG>CGG	p.Q109R		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	109											0						AGAGCTCAGCTGAGTGATGAT	0.557													C	70408792	T	C	70408792	3	2	21	1	0	0	0	0	1	0	0	0	2166	1580	55	3	1430	3	C2orf42	2	70408792	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	16538	70408792	172790581	87	19822											
DYSF	8291	broad.mit.edu	37	chr2	71766292	71766292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcccttgctctagggaccGcctgactcacaatgacatcg	9	15	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:71766292G>A	uc002sie.2	+	16	1779	c.1403G>A	c.(1402-1404)CGC>CAC	p.R468H	DYSF_uc010feg.2_Missense_Mutation_p.R499H|DYSF_uc010feh.2_Missense_Mutation_p.R468H|DYSF_uc002sig.3_Missense_Mutation_p.R468H|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R468H|DYSF_uc010fef.2_Missense_Mutation_p.R499H|DYSF_uc010fei.2_Missense_Mutation_p.R499H|DYSF_uc010fek.2_Missense_Mutation_p.R500H|DYSF_uc010fej.2_Missense_Mutation_p.R469H|DYSF_uc010fel.2_Missense_Mutation_p.R469H|DYSF_uc010feo.2_Missense_Mutation_p.R500H|DYSF_uc010fem.2_Missense_Mutation_p.R469H|DYSF_uc010fen.2_Missense_Mutation_p.R500H|DYSF_uc002sif.2_Missense_Mutation_p.R469H	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	468	Cytoplasmic (Potential).|C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						TCTAGGGACCGCCTGACTCAC	0.552													A	71766292	G	A	71766292	3	1	21	1	0	0	0	0	1	0	0	0	4859	1087	38	1	1657	1	DYSF	2	71766292	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1357500	71766292	171433081	88	19823											
PTCD3	55037	broad.mit.edu	37	chr2	86352984	86352984	+	Frame_Shift_Del	DEL	A	A	-													gataaatgagaaatttgaggAaaaatggagtaaaatactgg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:86352983_86352983GA>G	uc002sqw.2	+	11	997	c.931_931GA>G	c.(931-933)gaafs	p.E311fs	PTCD3_uc010ytc.1_Non-coding_Transcript|PTCD3_uc002sqx.1_5'UTR	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	Homo sapiens Pentatricopeptide repeat domain 3 (PTCD3), nuclear gene encoding mitochondrial protein, mRNA.	311						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GAAATTTGAGGAAAAATGGAG	0.333													-	86352984	A	-	86352984	7	5	21	1	0	1	0	1	0	0	0	0	12729	246	9	0	978	0	PTCD3	2	86352984	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	14586692	86352984	156846389	89	19824											
KDM3A	55818	broad.mit.edu	37	chr2	86683981	86683981	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcatgttgaagttgtacaCgataaccttgtgacatgtgg	10	6	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:86683981C>T	uc002sri.3	+	7	1062	c.735C>T	c.(733-735)CAC>CAT	p.H245H	KDM3A_uc010ytj.1_Silent_p.H245H|KDM3A_uc010ytk.1_Silent_p.H193H	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	245					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						AAGTTGTACACGATAACCTTG	0.353													T	86683981	C	T	86683981	2	4	21	1	0	0	0	0	0	0	0	1	8126	535	19	1		1	KDM3A	2	86683981	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	330997	86683981	156515392	90	19825											
SULT1C4	27233	broad.mit.edu	37	chr2	108994703	108994703	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggatagtgtggtagtgtgGtggatagagtgctgcctcta	16	5	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:108994703G>A	uc002tea.1	+	1	283	c.-90G>A	c.(-92--88)TGGTG>TGATG		SULT1C4_uc002tdz.2_Translation_Start_Site|SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Translation_Start_Site	NM_006588	NP_006579	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member						3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity				0						TGGTAGTGTGGTGGATAGAGT	0.522													A	108994703	G	A	108994703	1	1	21	1	0	0	0	0	0	0	0	0	15376	1276	44	4		4	SULT1C4	2	108994703	Translation_Start_Site	SNP	G	TCGA-BR-4363-01A-01D-1158-08	22310722	108994703	134204670	91	19826											
TMEM87B	84910	broad.mit.edu	37	chr2	112832491	112832491	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttactcttttttccagaaTaaagaactaataaatatcag	3	6	2	2	rs141654814		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:112832491T>C	uc002thm.2	+	5	822	c.453T>C	c.(451-453)AAT>AAC	p.N151N	TMEM87B_uc010fkg.2_Intron|TMEM87B_uc010fkh.2_Intron	NM_032824	NP_116213	Q96K49	TM87B_HUMAN	transmembrane protein 87B precursor	151						integral to membrane					0						TTTTCCAGAATAAAGAACTAA	0.259													C	112832491	T	C	112832491	2	2	21	1	0	0	0	0	0	0	0	1	16208	1403	49	3		3	TMEM87B	2	112832491	Silent	SNP	T	TCGA-BR-4363-01A-01D-1158-08	3837788	112832491	130366882	92	19827											
TMEM177	80775	broad.mit.edu	37	chr2	120438597	120438597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagggccagccagctccGctccctccacagctgcagag	10	19	1	1	rs116090839	by1000genomes	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:120438597G>A	uc010flg.1	+	2	641	c.168G>A	c.(166-168)CCG>CCA	p.P56P	TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Silent_p.P56P|TMEM177_uc002tmd.2_Silent_p.P56P|TMEM177_uc010flh.2_Silent_p.P56P	NM_001105198	NP_001098668	Q53S58	TM177_HUMAN	transmembrane protein 177	56						integral to membrane				ovary(1)	1	Colorectal(110;0.196)					AGCCAGCTCCGCTCCCTCCAC	0.582													A	120438597	G	A	120438597	2	1	21	1	0	0	0	0	0	0	0	1	16091	1074	38	1		1	TMEM177	2	120438597	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	7606106	120438597	122760776	93	19828											
TUBA3D	113457	broad.mit.edu	37	chr2	132237023	132237023	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagtcctggaccggatccgCaaactggtaagaagagaagg	13	9	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:132237023C>T	uc002tsu.3	+	3	476	c.369C>T	c.(367-369)CGC>CGT	p.R123R		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	123					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(221;0.13)		ACCGGATCCGCAAACTGGTAA	0.483													T	132237023	C	T	132237023	2	4	21	1	0	0	0	0	0	0	0	1	16744	697	25	2		2	TUBA3D	2	132237023	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	11798426	132237023	110962350	94	19829											
R3HDM1	23518	broad.mit.edu	37	chr2	136393550	136393550	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagagataactctagcttTgacaaagatgataaccaggt	9	6	1	5			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:136393550T>C	uc002tuo.2	+	10	1159	c.789T>C	c.(787-789)TTT>TTC	p.F263F	R3HDM1_uc010fni.2_Silent_p.F261F|R3HDM1_uc002tup.2_Silent_p.F207F|R3HDM1_uc010zbh.1_Silent_p.F95F	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	263							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		ACTCTAGCTTTGACAAAGATG	0.313													C	136393550	T	C	136393550	2	2	21	1	0	0	0	0	0	0	0	1	12887	1809	63	3		3	R3HDM1	2	136393550	Silent	SNP	T	TCGA-BR-4363-01A-01D-1158-08	4156527	136393550	106805823	95	19830											
MCM6	4175	broad.mit.edu	37	chr2	136602247	136602247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctctttaatgctgactcGtcctcttctgcaacaaaaaa	4	13	3	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:136602247G>A	uc002tuw.2	-	16	2293	c.2217C>T	c.(2215-2217)GAC>GAT	p.D739D		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	739					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	ATGCTGACTCGTCCTCTTCTG	0.368													A	136602247	G	A	136602247	2	1	21	1	0	0	0	0	0	0	0	1	9391	1136	40	1		1	MCM6	2	136602247	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	208697	136602247	106597126	96	19831											
RIF1	55183	broad.mit.edu	37	chr2	152324577	152324577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagatgacattgatagaCggtgctctattgttaggtcc	12	7	1	4			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:152324577C>T	uc002txm.2	+	31	6794	c.6664C>T	c.(6664-6666)CGG>TGG	p.R2222W	RIF1_uc002txl.2_Missense_Mutation_p.R2222W|RIF1_uc002txn.2_Missense_Mutation_p.R2222W|RIF1_uc002txo.2_Missense_Mutation_p.R2222W|RIF1_uc002txp.2_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	2222	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CATTGATAGACGGTGCTCTAT	0.393													T	152324577	C	T	152324577	3	4	21	1	0	0	0	0	1	0	0	0	13359	527	19	1	6782	1	RIF1	2	152324577	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	15722330	152324577	90874796	97	19832											
NEB	4703	broad.mit.edu	37	chr2	152363488	152363488	+	Frame_Shift_Del	DEL	T	T	-													cgtgtcttgaacaactgtaaTttttcctttactgtttttaa							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:152363488delT	uc010fnx.2	-	135	18579	c.18388delA	c.(18388-18390)ATTfs	p.I6130fs	NEB_uc002txr.2_Frame_Shift_Del_p.I2553fs|RIF1_uc002txp.2_Intron|NEB_uc010zca.1_5'Flank|NEB_uc010zcb.1_5'UTR|NEB_uc002txt.3_Frame_Shift_Del_p.I635fs	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	6130	Nebulin 168.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACAACTGTAATTTTTCCTTTA	0.308													-	152363488	T	-	152363488	7	5	21	1	0	1	0	1	0	0	0	0	10302	1493	52	0	2166	0	NEB	2	152363488	Frame_Shift_Del	DEL	T	TCGA-BR-4363-01A-01D-1158-08	38911	152363488	90835885	98	19833											
NR4A2	4929	broad.mit.edu	37	chr2	157186441	157186441	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaccttaatggaggactgCtgtccggacaggggcatttg	13	9	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:157186441C>T	uc002tyz.3	-	3	680	c.258G>A	c.(256-258)CAG>CAA	p.Q86Q	NR4A2_uc002tyx.3_Silent_p.Q23Q|NR4A2_uc010zcf.1_Silent_p.Q86Q|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	86	Gln-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						TGGAGGACTGCTGTCCGGACA	0.557													T	157186441	C	T	157186441	2	4	21	1	0	0	0	0	0	0	0	1	10633	796	28	2		2	NR4A2	2	157186441	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	4822953	157186441	86012932	99	19834											
PLA2R1	22925	broad.mit.edu	37	chr2	160798419	160798419	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagccaccgttatgcttgTatatgcagaaggaaagtgtg	12	6	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:160798419T>C	uc002ube.1	-	30	4469	c.4262A>G	c.(4261-4263)TAC>TGC	p.Y1421C	PLA2R1_uc010zcp.1_Missense_Mutation_p.Y1419C	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	1421	Cytoplasmic (Potential).				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3						GTTATGCTTGTATATGCAGAA	0.408													C	160798419	T	C	160798419	3	2	21	1	0	0	0	0	1	0	0	0	12010	1638	57	3	133	3	PLA2R1	2	160798419	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	3611978	160798419	82400954	100	19835											
XIRP2	129446	broad.mit.edu	37	chr2	168100214	168100214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagatgtaagaacagcacGgtggatgtttgaaacacagc	14	6	0	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:168100214G>A	uc002udx.2	+	8	2330	c.2312G>A	c.(2311-2313)CGG>CAG	p.R771Q	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R596Q|XIRP2_uc010fpq.2_Missense_Mutation_p.R549Q|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	596	Xin 7.				actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AGAACAGCACGGTGGATGTTT	0.393													A	168100214	G	A	168100214	3	1	21	1	0	0	0	0	1	0	0	0	17427	1116	39	1	2342	1	XIRP2	2	168100214	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	7301795	168100214	75099159	101	19836											
LRP2	4036	broad.mit.edu	37	chr2	170059292	170059292	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactttccatctcatcactgCcatccccacagtcgttgtca	4	17	3	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:170059292C>A	uc002ues.2	-	43	8396	c.8183G>T	c.(8182-8184)GGC>GTC	p.G2728V		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2728	LDL-receptor class A 16.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTCATCACTGCCATCCCCACA	0.498													A	170059292	C	A	170059292	3	1	21	1	0	0	0	0	1	0	0	0	8956	739	26	5	5932	5	LRP2	2	170059292	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1959078	170059292	73140081	102	19837											
TTN	7273	broad.mit.edu	37	chr2	179395182	179395182	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttagtttctgatatttttGataccttctcatggatactc	5	8	3	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:179395182G>A	uc010zfg.1	-	307	98680	c.98456C>T	c.(98455-98457)TCA>TTA	p.S32819L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S26514L|TTN_uc010zfi.1_Missense_Mutation_p.S26447L|TTN_uc010zfj.1_Missense_Mutation_p.S26322L|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33746							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATATTTTTGATACCTTCTC	0.373													A	179395182	G	A	179395182	3	1	21	1	0	0	0	0	1	0	0	0	16732	1294	45	4	1839	4	TTN	2	179395182	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	9335890	179395182	63804191	103	19838											
TTN	7273	broad.mit.edu	37	chr2	179580341	179580341	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcacagccaccgagtcaacGaatgacattctgaatttact	7	11	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:179580341G>A	uc010zfg.1	-	86	22292	c.22068C>T	c.(22066-22068)TTC>TTT	p.F7356F	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.F4017F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8283							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCGAGTCAACGAATGACATTC	0.463													A	179580341	G	A	179580341	2	1	21	1	0	0	0	0	0	0	0	1	16732	1049	37	1		1	TTN	2	179580341	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	185159	179580341	63619032	104	19839											
TTN	7273	broad.mit.edu	37	chr2	179667001	179667001	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctaaaggagatctgcacGccgggcagagtggaagtgga	16	8	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:179667001G>A	uc002und.2	-	3	384	c.159C>T	c.(157-159)GGC>GGT	p.G53G	TTN_uc010zfg.1_Silent_p.G53G|TTN_uc010zfh.1_Silent_p.G53G|TTN_uc010zfi.1_Silent_p.G53G|TTN_uc010zfj.1_Silent_p.G53G|TTN_uc002unb.2_Silent_p.G53G			Q8WZ42	TITIN_HUMAN	Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.	53							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGATCTGCACGCCGGGCAGAG	0.517													A	179667001	G	A	179667001	2	1	21	1	0	0	0	0	0	0	0	1	16732	1074	38	1		1	TTN	2	179667001	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	86660	179667001	63532372	105	19840											
CALCRL	10203	broad.mit.edu	37	chr2	188217046	188217046	+	Frame_Shift_Del	DEL	A	A	-													cgcgtacaatatttaacaagAaaaaaagattcacctaaaaa							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:188217045_188217045GA>G	uc010frt.3	-	11	1307	c.924_924TC>C	c.(922-924)ttcfs	p.F308fs	CALCRL_uc002upv.4_Frame_Shift_Del_p.F308fs	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	308						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TATTTAACAAGAAAAAAAGAT	0.308													-	188217046	A	-	188217046	7	5	21	1	0	1	0	1	0	0	0	0	2580	246	9	0	474	0	CALCRL	2	188217046	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	8550045	188217046	54982327	106	19841											
SPATS2L	26010	broad.mit.edu	37	chr2	201284108	201284108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acggccccatgaatggctgcGagaaggacagctcgtccaca	12	13	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:201284108G>A	uc002uvn.3	+	6	686	c.334G>A	c.(334-336)GAG>AAG	p.E112K	SPATS2L_uc010fst.2_Missense_Mutation_p.E112K|SPATS2L_uc002uvo.3_Missense_Mutation_p.E52K|SPATS2L_uc002uvp.3_Missense_Mutation_p.E112K|SPATS2L_uc002uvq.3_Missense_Mutation_p.E112K|SPATS2L_uc002uvr.3_Missense_Mutation_p.E112K|SPATS2L_uc010zhc.1_Missense_Mutation_p.E142K	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	SPATS2-like protein isoform a	112						cytoplasm|nucleolus				ovary(2)|pancreas(1)	3						GAATGGCTGCGAGAAGGACAG	0.527													A	201284108	G	A	201284108	3	1	21	1	0	0	0	0	1	0	0	0	15019	1059	37	1	348	1	SPATS2L	2	201284108	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	13067062	201284108	41915265	107	19842											
KCTD18	130535	broad.mit.edu	37	chr2	201369472	201369472	+	Splice_Site	DEL	T	T	-													cttaaaaaaatgccaagaccTttttaagttctatatttgac							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:201369471_201369471CT>C	uc002uvs.3	-	3	889	c.372_splice	c.e3+1	p.K124_splice	KCTD18_uc002uvt.3_Splice_Site_p.K124_splice|KCTD18_uc002uvu.1_Splice_Site_p.K124_splice	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 18 (KCTD18), mRNA.	124						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						ATGCCAAGACCTTTTTAAGTT	0.328													-	201369472	T	-	201369472	8	5	21	1	0	1	0	1	0	0	1	0	8105	1623	56	0	929	0	KCTD18	2	201369472	Splice_Site	DEL	T	TCGA-BR-4363-01A-01D-1158-08	85364	201369472	41829901	108	19843											
CASP8	841	broad.mit.edu	37	chr2	202131514	202131514	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctcaaatttctgcctacaGgtgggtggaaactcccattg	11	10	2	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:202131514G>T	uc002uxr.1	+	3	514	c.305G>T	c.(304-306)AGG>ATG	p.R102M	CASP8_uc010ftc.1_Missense_Mutation_p.R102M|CASP8_uc002uxo.1_Missense_Mutation_p.R102M|CASP8_uc002uxp.1_Missense_Mutation_p.R102M|CASP8_uc002uxq.1_Missense_Mutation_p.R102M|CASP8_uc002uxs.1_Missense_Mutation_p.R102M|CASP8_uc002uxt.1_Missense_Mutation_p.R161M|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.R102M|CASP8_uc002uxw.1_Missense_Mutation_p.R102M|CASP8_uc002uxy.1_Missense_Mutation_p.R102M|CASP8_uc002uxx.1_Missense_Mutation_p.R102M|CASP8_uc010ftf.2_Missense_Mutation_p.R102M	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	102	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						TCTGCCTACAGGTGGGTGGAA	0.493										HNSCC(4;0.00038)			T	202131514	G	T	202131514	3	4	21	1	0	0	0	0	1	0	0	0	2677	1014	35	5	488	5	CASP8	2	202131514	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	762042	202131514	41067859	109	19844											
IHH	3549	broad.mit.edu	37	chr2	219920518	219920518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctgacaaggccacacgcGccccactctccaggcgtacc	10	19	1	1	rs142245478		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:219920518G>A	uc002vjo.1	-	3	647	c.647C>T	c.(646-648)GCG>GTG	p.A216V		NM_002181	NP_002172	Q14623	IHH_HUMAN	Indian hedgehog homolog precursor	216					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)	1		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCACACGCGCCCCACTCTC	0.657													A	219920518	G	A	219920518	3	1	21	1	0	0	0	0	1	0	0	0	7607	1087	38	1	592	1	IHH	2	219920518	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	17789004	219920518	23278855	110	19845											
SPEG	10290	broad.mit.edu	37	chr2	220344783	220344783	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactccaggagagccccagTactgccagtatggcacacct	10	14	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:220344783T>C	uc010fwg.2	+	25	5263	c.5263T>C	c.(5263-5265)TAC>CAC	p.Y1755H		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1755	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGAGCCCCAGTACTGCCAGTA	0.592													C	220344783	T	C	220344783	3	2	21	1	0	0	0	0	1	0	0	0	15035	1638	57	3	5373	3	SPEG	2	220344783	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	424265	220344783	22854590	111	19846											
OBSL1	23363	broad.mit.edu	37	chr2	220420875	220420875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatggacaggcgagagtcGtggggcaggggctgcccacc	18	12	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:220420875G>A	uc010fwk.2	-	14	4533	c.4476C>T	c.(4474-4476)CAC>CAT	p.H1492H	OBSL1_uc002vmh.1_Silent_p.H391H|OBSL1_uc010zli.1_Silent_p.H299H|OBSL1_uc010fwl.1_Silent_p.H967H	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1492	Ig-like 12.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGCGAGAGTCGTGGGGCAGGG	0.677													A	220420875	G	A	220420875	2	1	21	1	0	0	0	0	0	0	0	1	10813	1136	40	1		1	OBSL1	2	220420875	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	76092	220420875	22778498	112	19847											
MOGAT1	116255	broad.mit.edu	37	chr2	223553100	223553100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcactgtgatgctgatcatAcacaactatttgttccttta	5	9	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:223553100A>G	uc010fws.1	+	2	180	c.132A>G	c.(130-132)ATA>ATG	p.I44M	MOGAT1_uc010fwt.1_Missense_Mutation_p.I4M	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	44	Helical; (Potential).				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)	1		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		TGCTGATCATACACAACTATT	0.443													G	223553100	A	G	223553100	3	3	21	1	0	0	0	0	1	0	0	0	9694	381	14	3	138	3	MOGAT1	2	223553100	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	3132225	223553100	19646273	113	19848											
ANO7	50636	broad.mit.edu	37	chr2	242129505	242129505	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcgacgggcccaggaagaGgacagcaccgtcctgatcga	15	13	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:242129505G>T	uc002wax.2	+	2	292	c.189G>T	c.(187-189)GAG>GAT	p.E63D	ANO7_uc002waw.2_Missense_Mutation_p.E63D	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	63	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						CCCAGGAAGAGGACAGCACCG	0.672													T	242129505	G	T	242129505	3	4	21	1	0	0	0	0	1	0	0	0	702	991	35	5	195	5	ANO7	2	242129505	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	18576405	242129505	1069868	114	19849											
ITPR1	3708	broad.mit.edu	37	chr3	4706906	4706906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcggggaccagcggcacGctcctttcagacacatctgc	11	15	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:4706906G>A	uc003bqa.2	+	17	1987	c.1639G>A	c.(1639-1641)GCT>ACT	p.A547T	ITPR1_uc010hca.1_Missense_Mutation_p.A532T|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.A532T	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	547	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CCAGCGGCACGCTCCTTTCAG	0.527													A	4706906	G	A	4706906	3	1	21	1	0	0	0	0	1	0	0	0	7920	1087	38	1	1697	1	ITPR1	3	4706906	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08		4706906	193315524	115	19850											
FANCD2	2177	broad.mit.edu	37	chr3	10078012	10078012	+	Frame_Shift_Del	DEL	T	T	-													tttgagaagttgccagaataTttttttgaaaagtaagtggc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:10078011_10078011AT>A	uc003buw.3	+	6	557	c.479_479AT>A	c.(478-480)tatfs	p.Y160fs	FANCD2_uc003bux.1_Frame_Shift_Del_p.Y160fs|FANCD2_uc003buy.1_Frame_Shift_Del_p.Y160fs|FANCD2_uc003buv.3_Frame_Shift_Del_p.Y160fs	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	160	Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTGCCAGAATATTTTTTTGAA	0.328			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				-	10078012	T	-	10078012	7	5	21	1	0	1	0	1	0	0	0	0	5665	1500	52	0	502	0	FANCD2	3	10078012	Frame_Shift_Del	DEL	T	TCGA-BR-4363-01A-01D-1158-08	5371106	10078012	187944418	116	19851											
TATDN2	9797	broad.mit.edu	37	chr3	10312453	10312453	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcagctccttccctaaggaAtttcagggctgcatctctga	9	12	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:10312453A>T	uc003bvg.2	+	4	2168	c.1587A>T	c.(1585-1587)GAA>GAT	p.E529D	TATDN2_uc003bvf.2_Missense_Mutation_p.E529D|TATDN2_uc011atr.1_Missense_Mutation_p.E529D|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA	NM_014760	NP_055575	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	529						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			pancreas(2)	2						TCCCTAAGGAATTTCAGGGCT	0.488													T	10312453	A	T	10312453	3	4	21	1	0	0	0	0	1	0	0	0	15589	98	4	5	1597	5	TATDN2	3	10312453	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	234441	10312453	187709977	117	19852											
GHRL	51738	broad.mit.edu	37	chr3	10328491	10328491	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccaacatcaaagggggcGttgaactaggaggcagggca	14	8	1	1	rs149447194	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:10328491G>A	uc010hdf.2	-	4	366	c.231C>T	c.(229-231)AAC>AAT	p.N77N	GHRLOS_uc011atw.1_Intron|GHRLOS_uc011atx.1_Intron|GHRLOS_uc011aty.1_Intron|GHRLOS_uc011atz.1_Intron|GHRLOS_uc011aua.1_Intron|GHRLOS_uc010hdl.2_Intron|GHRLOS_uc011aub.1_Intron|GHRLOS_uc010hdm.2_Intron|GHRLOS_uc011auc.1_Intron|GHRLOS_uc011aud.1_Intron|GHRLOS_uc011aue.1_Intron|GHRLOS_uc011auf.1_Intron|GHRLOS_uc011aug.1_Intron|GHRLOS_uc011auh.1_Intron|GHRLOS_uc011aui.1_Intron|GHRLOS_uc011auj.1_Intron|GHRLOS_uc010hdn.2_Intron|GHRL_uc010hda.1_RNA|GHRL_uc010hdb.1_RNA|GHRL_uc003bvj.1_Intron|GHRL_uc003bvk.3_RNA|GHRL_uc010hdk.2_Silent_p.N64N|GHRL_uc010hdc.2_Silent_p.N26N|GHRL_uc010hdd.2_Intron|GHRL_uc010hde.2_Silent_p.N76N|GHRL_uc010hdi.2_Silent_p.N77N|GHRL_uc010hdh.2_Silent_p.N77N|GHRL_uc010hdj.2_Silent_p.N65N|GHRLOS_uc011auk.1_5'Flank	NM_016362	NP_057446	Q9UBU3	GHRL_HUMAN	ghrelin/obestatin isoform 1 preproprotein	77					actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus	axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule	ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity			ovary(1)	1						CAAAGGGGGCGTTGAACTAGG	0.587											OREG0015386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	10328491	G	A	10328491	2	1	21	1	0	0	0	0	0	0	0	1	6374	1136	40	1		1	GHRL	3	10328491	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	16038	10328491	187693939	118	19853											
ATP2B2	491	broad.mit.edu	37	chr3	10442673	10442673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccttgtccacggacttgcGcacctggtcagactctccag	10	15	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:10442673G>A	uc003bvt.2	-	5	1184	c.745C>T	c.(745-747)CGC>TGC	p.R249C	ATP2B2_uc003bvv.2_Missense_Mutation_p.R249C|ATP2B2_uc003bvw.2_Missense_Mutation_p.R249C|ATP2B2_uc010hdp.2_Missense_Mutation_p.R249C|ATP2B2_uc010hdo.2_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	249	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						ACGGACTTGCGCACCTGGTCA	0.597													A	10442673	G	A	10442673	3	1	21	1	0	0	0	0	1	0	0	0	1140	1087	38	1	3062	1	ATP2B2	3	10442673	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	114182	10442673	187579757	119	19854											
PPARG	5468	broad.mit.edu	37	chr3	12434182	12434182	+	Frame_Shift_Del	DEL	A	A	-													atcttaactgtcggatccacAaaaaaagtagaaataaatgt							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:12434181_12434181CA>C	uc003bwx.3	+	3	640	c.549_549CA>C	c.(547-549)cacfs	p.H183fs	PPARG_uc003bwr.3_Frame_Shift_Del_p.H155fs|PPARG_uc003bws.3_Frame_Shift_Del_p.H155fs|PPARG_uc003bwu.3_Frame_Shift_Del_p.H155fs|PPARG_uc003bwv.3_Frame_Shift_Del_p.H155fs|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc003bwt.1_Frame_Shift_Del_p.H155fs|PPARG_uc003bww.1_Frame_Shift_Del_p.H183fs	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	183					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	GTCGGATCCACAAAAAAAGTA	0.363			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"						-	12434182	A	-	12434182	7	5	21	1	0	1	0	1	0	0	0	0	12299	131	5	0	564	0	PPARG	3	12434182	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	1991509	12434182	185588248	120	19855											
RAF1	5894	broad.mit.edu	37	chr3	12645699	12645699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggacattaggtgtggatgtcGacctctgcctctgggagagg	16	8	2	1	rs80338796		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:12645699G>A	uc003bxf.3	-	7	1185	c.770C>T	c.(769-771)TCG>TTG	p.S257L	RAF1_uc011aut.1_Missense_Mutation_p.S42L|RAF1_uc011auu.1_Missense_Mutation_p.S175L	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	257			S -> L (in NS5 and LEOPARD2; shows in vitro greater kinase activity and enhanced ERK activation than wild-type).		activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)	TGTGGATGTCGACCTCTGCCT	0.527			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome				A	12645699	G	A	12645699	3	1	21	1	0	0	0	0	1	0	0	0	13002	1059	37	1	1220	1	RAF1	3	12645699	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	211517	12645699	185376731	121	19856											
FBLN2	2199	broad.mit.edu	37	chr3	13679190	13679190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcttccgcattggccccgCgccagccttcacgggggaca	11	16	2	0	rs112412824		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:13679190C>T	uc011avb.1	+	17	3451	c.3326C>T	c.(3325-3327)GCG>GTG	p.A1109V	FBLN2_uc011auz.1_Missense_Mutation_p.A1135V|FBLN2_uc011ava.1_Missense_Mutation_p.A1156V|FBLN2_uc011avc.1_Missense_Mutation_p.A1156V	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	1109	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ATTGGCCCCGCGCCAGCCTTC	0.622													T	13679190	C	T	13679190	3	4	21	1	0	0	0	0	1	0	0	0	5699	768	27	1	2223	1	FBLN2	3	13679190	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1033491	13679190	184343240	122	19857											
OXSM	54995	broad.mit.edu	37	chr3	25835771	25835771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaggacatctgctgggagCtgcaggggcagtcgaggcag	17	9	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:25835771C>T	uc003cdn.2	+	3	1273	c.1166C>T	c.(1165-1167)GCT>GTT	p.A389V	OXSM_uc011awp.1_Missense_Mutation_p.A114V|OXSM_uc010hfh.2_Missense_Mutation_p.A306V	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial isoform 1	389					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			ovary(1)|breast(1)	2						CTGCTGGGAGCTGCAGGGGCA	0.443													T	25835771	C	T	25835771	3	4	21	1	0	0	0	0	1	0	0	0	11335	797	28	2	1172	2	OXSM	3	25835771	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	12156581	25835771	172186659	123	19858											
SCN11A	11280	broad.mit.edu	37	chr3	38936341	38936341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaaaacaaaaagcccggcGgaatcgatccagtgctaact	8	12	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:38936341G>A	uc011ays.1	-	15	2717	c.2518C>T	c.(2518-2520)CGC>TGC	p.R840C	SCN11A_uc010hhn.1_5'UTR	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	840					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAAGCCCGGCGGAATCGATCC	0.458													A	38936341	G	A	38936341	3	1	21	1	0	0	0	0	1	0	0	0	13913	1116	39	1	2905	1	SCN11A	3	38936341	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	13100570	38936341	159086089	124	19859											
SCN11A	11280	broad.mit.edu	37	chr3	38951623	38951623	+	Frame_Shift_Del	DEL	A	A	-													atggcaagaaaagaccagccAaagttgtcaaaattcgtata							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:38951623delA	uc011ays.1	-	8	1234	c.1035delT	c.(1033-1035)TTTfs	p.F345fs		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	345	I.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAGACCAGCCAAAGTTGTCAA	0.333													-	38951623	A	-	38951623	7	5	21	1	0	1	0	1	0	0	0	0	13913	127	5	0	4416	0	SCN11A	3	38951623	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	15282	38951623	159070807	125	19860											
USP19	10869	broad.mit.edu	37	chr3	49153503	49153503	+	Frame_Shift_Del	DEL	C	C	-													gtgcagccggggcctccaggCccccccagcgctgactctgc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:49153503delC	uc003cwd.1	-	9	1306	c.1145delG	c.(1144-1146)GGCfs	p.G382fs	USP19_uc003cwa.2_Frame_Shift_Del_p.G188fs|USP19_uc003cvz.3_Frame_Shift_Del_p.G483fs|USP19_uc011bcg.1_Frame_Shift_Del_p.G473fs|USP19_uc003cwb.2_Frame_Shift_Del_p.G468fs|USP19_uc003cwc.1_Frame_Shift_Del_p.G138fs|USP19_uc011bch.1_Frame_Shift_Del_p.G483fs|USP19_uc011bci.1_Frame_Shift_Del_p.G468fs	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	382	CS 2.|Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGCCTCCAGGCCCCCCCAGCG	0.602													-	49153503	C	-	49153503	7	5	21	1	0	1	0	1	0	0	0	0	17047	739	26	0	2883	0	USP19	3	49153503	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	10201880	49153503	148868927	126	19861											
DAG1	1605	broad.mit.edu	37	chr3	49568688	49568688	+	Frame_Shift_Del	DEL	A	A	-													atggctggcccgggaaatgcAaaaaaggtggtggagaatgg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:49568688delA	uc003cxc.3	+	3	1162	c.744delA	c.(742-744)GCAfs	p.A248fs		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	248	Required for laminin recognition.			A -> P (in Ref. 1; AAA81779).	cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CGGGAAATGCAAAAAAGGTGG	0.527													-	49568688	A	-	49568688	7	5	21	1	0	1	0	1	0	0	0	0	4225	117	5	0	750	0	DAG1	3	49568688	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	415185	49568688	148453742	127	19862											
DAG1	1605	broad.mit.edu	37	chr3	49568877	49568877	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcttcccaaacgcgtccgGaggcagatccatgctacacc	8	17	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:49568877G>A	uc003cxc.3	+	3	1351	c.933G>A	c.(931-933)CGG>CGA	p.R311R		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	311	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACGCGTCCGGAGGCAGATCC	0.627													A	49568877	G	A	49568877	2	1	21	1	0	0	0	0	0	0	0	1	4225	1161	41	4		4	DAG1	3	49568877	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	189	49568877	148453553	128	19863											
HYAL3	8372	broad.mit.edu	37	chr3	50332546	50332546	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggccttgtagagctgctccTgagggtccaggtcagggaat	15	9	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:50332546T>G	uc003czd.1	-	2	761	c.488A>C	c.(487-489)CAG>CCG	p.Q163P	HYAL3_uc003czc.1_Missense_Mutation_p.Q163P|HYAL3_uc003cze.1_Intron|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Missense_Mutation_p.Q163P	NM_003549	NP_003540	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3 precursor	163					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAGCTGCTCCTGAGGGTCCAG	0.642													G	50332546	T	G	50332546	3	3	21	1	0	0	0	0	1	0	0	0	7465	1580	55	5	777	5	HYAL3	3	50332546	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	763669	50332546	147689884	129	19864											
TLR9	54106	broad.mit.edu	37	chr3	52257641	52257641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgccagtttgacgatgcGgttgtaggacaacagcagat	14	8	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:52257641G>A	uc003dda.1	-	2	1325	c.691C>T	c.(691-693)CGC>TGC	p.R231C	TLR9_uc003ddb.2_Missense_Mutation_p.R328C	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	231	LRR 7.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TTGACGATGCGGTTGTAGGAC	0.617													A	52257641	G	A	52257641	3	1	21	1	0	0	0	0	1	0	0	0	15955	1116	39	1	2411	1	TLR9	3	52257641	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1925095	52257641	145764789	130	19865											
BAP1	8314	broad.mit.edu	37	chr3	52440912	52440912	+	Frame_Shift_Del	DEL	C	C	-													gtctgtccactcctcgtcctCcccccagggccctagtggag							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:52440912delC	uc003ddx.2	-	8	707	c.592delG	c.(592-594)GAGfs	p.E198fs	BAP1_uc010hmh.2_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	198					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCCTCGTCCTCCCCCCAGGGC	0.607			N|Mis|F|S|O		uveal melanoma|breast|NSCLC								-	52440912	C	-	52440912	7	5	21	1	0	1	0	1	0	0	0	0	1311	864	30	0	1637	0	BAP1	3	52440912	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	183271	52440912	145581518	131	19866											
GLT8D1	55830	broad.mit.edu	37	chr3	52731828	52731829	+	Frame_Shift_Ins	INS	-	-	C													ctgtttatagctgcaatggcINSccccccaagcctgtcttcag					rs115960994	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:52731827_52731828G>GC	uc003dfi.4	-	3	469_470	c.238_239C>GC	c.(238-240)gccfs	p.A80fs	GLT8D1_uc003dfk.3_Frame_Shift_Ins_p.A80fs|GLT8D1_uc003dfl.3_Frame_Shift_Ins_p.A80fs|GLT8D1_uc003dfm.3_Frame_Shift_Ins_p.A80fs|GLT8D1_uc003dfn.3_Frame_Shift_Ins_p.A80fs	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 1 (GLT8D1), transcript variant 1, mRNA.	80						integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGCTGCAATGGCCCCCCCAAGC	0.485													C	52731829	-	C	52731828	7	5	21	1	0	1	1	0	0	0	0	0	6469	739	26	0	905	0	GLT8D1	3	52731828	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	290916	52731828	145290602	132	19867											
DNAH12	201625	broad.mit.edu	37	chr3	57493550	57493550	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttttcagtgattcacagtcAattggacctttagctctatt	7	8	4	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:57493550A>G	uc003dit.2	-	8	898	c.717T>C	c.(715-717)ATT>ATC	p.I239I	DNAH12_uc003diu.2_Silent_p.I239I	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	dynein heavy chain domain 2 isoform 1	239	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			pancreas(1)|skin(1)	2						ATTCACAGTCAATTGGACCTT	0.284													G	57493550	A	G	57493550	2	3	21	1	0	0	0	0	0	0	0	1	4600	126	5	3		3	DNAH12	3	57493550	Silent	SNP	A	TCGA-BR-4363-01A-01D-1158-08	4761722	57493550	140528880	133	19868											
ARL13B	200894	broad.mit.edu	37	chr3	93761986	93761987	+	Frame_Shift_Ins	INS	-	-	A													caggttaatcacaatggccaINSaaaaaataatgaatttggac							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:93761985_93761986C>CA	uc003drc.3	+	6	1210_1211	c.925_926C>CA	c.(925-927)caafs	p.Q309fs	ARL13B_uc010hop.3_Frame_Shift_Ins_p.Q160fs|ARL13B_uc003drf.3_Frame_Shift_Ins_p.Q309fs|ARL13B_uc003drg.3_Frame_Shift_Ins_p.Q206fs|ARL13B_uc003drd.3_Frame_Shift_Ins_p.Q202fs|ARL13B_uc003dre.3_Frame_Shift_Ins_p.Q294fs	NM_182896	NP_001167622	Q3SXY8	AR13B_HUMAN	Homo sapiens ADP-ribosylation factor-like 13B (ARL13B), transcript variant 1, mRNA.	309							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						TCACAATGGCCAAAAAAATAAT	0.381													A	93761987	-	A	93761986	7	5	21	1	0	1	1	0	0	0	0	0	929	130	5	0	952	0	ARL13B	3	93761986	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	36268436	93761986	104260444	134	19869											
NFKBIZ	64332	broad.mit.edu	37	chr3	101574616	101574616	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtcatagcccacaatgCtgtggtccatgaactccaga	9	12	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:101574616C>A	uc003dvp.2	+	9	1809	c.1694C>A	c.(1693-1695)GCT>GAT	p.A565D	NFKBIZ_uc003dvo.2_Missense_Mutation_p.A465D|NFKBIZ_uc010hpo.2_Missense_Mutation_p.A465D|NFKBIZ_uc003dvq.2_Missense_Mutation_p.A443D	NM_031419	NP_113607	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene	565	Interaction with NFKB1/p50 (By similarity).|ANK 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(2)	2						GCCCACAATGCTGTGGTCCAT	0.448													A	101574616	C	A	101574616	3	1	21	1	0	0	0	0	1	0	0	0	10383	797	28	5	1728	5	NFKBIZ	3	101574616	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	7812630	101574616	96447814	135	19870											
GUCA1C	9626	broad.mit.edu	37	chr3	108634981	108634981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagctccattaccatcattGtttatatcgatcttatggaa	6	8	2	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:108634981G>A	uc003dxj.2	-	3	503	c.435C>T	c.(433-435)AAC>AAT	p.N145N	GUCA1C_uc003dxk.2_Silent_p.N145N	NM_005459	NP_005450	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	145	3.|EF-hand 4.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0						TACCATCATTGTTTATATCGA	0.418													A	108634981	G	A	108634981	2	1	21	1	0	0	0	0	0	0	0	1	6890	1368	48	4		4	GUCA1C	3	108634981	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	7060365	108634981	89387449	136	19871											
TMPRSS7	344805	broad.mit.edu	37	chr3	111766802	111766802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttttgcccatccggagcaGcatcttgtacaggtacgatg	10	12	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:111766802G>A	uc010hqb.2	+	5	739	c.569G>A	c.(568-570)AGC>AAC	p.S190N	TMPRSS7_uc011bhr.1_Missense_Mutation_p.S45N	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	316	Extracellular (Potential).|CUB 1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			ovary(1)|kidney(1)	2						ATCCGGAGCAGCATCTTGTAC	0.443													A	111766802	G	A	111766802	3	1	21	1	0	0	0	0	1	0	0	0	16249	971	34	2	583	2	TMPRSS7	3	111766802	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	3131821	111766802	86255628	137	19872											
ATP6V1A	523	broad.mit.edu	37	chr3	113508677	113508680	+	Frame_Shift_Del	DEL	TATT	TATT	-													gttgctgctagagaagcctcTatttatactggtgagtatat							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:113508676_113508679CTATT>C	uc003eao.3	+	7	1085_1088	c.977_980CTATT>C	c.(976-981)tctattfs	p.S326fs	ATP6V1A_uc011bik.2_Frame_Shift_Del_p.S293fs	NM_001690	NP_001681	P38606	VATA_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA.	326					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAGAAGCCTCTATTTATACTGGT	0.373													-	113508680	TATT	-	113508677	7	5	21	1	0	1	0	1	0	0	0	0	1177	1509	53	0	1004	0	ATP6V1A	3	113508677	Frame_Shift_Del	DEL	TATT	TCGA-BR-4363-01A-01D-1158-08	1741875	113508677	84513753	138	19873											
C3orf15	89876	broad.mit.edu	37	chr3	119459550	119459550	+	Frame_Shift_Del	DEL	T	T	-													gcatgagcacaaggttttccTttttttgttttcttgttact							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:119459550delT	uc010hqy.1	+	13	1765	c.1688delT	c.(1687-1689)CTTfs	p.L563fs	C3orf15_uc003ede.3_Intron|C3orf15_uc010hqz.2_Intron|C3orf15_uc011bjd.1_Intron|C3orf15_uc011bje.1_Intron|C3orf15_uc010hra.1_Frame_Shift_Del_p.L324fs	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	399	Potential.					mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)		AAGGTTTTCCTTTTTTTGTTT	0.363													-	119459550	T	-	119459550	7	5	21	1	0	1	0	1	0	0	0	0	2209	1624	56	0		0	C3orf15	3	119459550	Frame_Shift_Del	DEL	T	TCGA-BR-4363-01A-01D-1158-08	5950873	119459550	78562880	139	19874											
CASR	846	broad.mit.edu	37	chr3	121981056	121981056	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacagctcgacagccttcCgacccctctgtacaggggat	10	15	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:121981056C>T	uc003eev.3	+	4	1546	c.1174C>T	c.(1174-1176)CGA>TGA	p.R392*	CASR_uc003eew.3_Nonsense_Mutation_p.R392*	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	392	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GACAGCCTTCCGACCCCTCTG	0.493													T	121981056	C	T	121981056	4	4	21	1	0	0	0	0	0	1	0	0	2682	644	23	1	1184	1	CASR	3	121981056	Nonsense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	2521506	121981056	76041374	140	19875											
ADCY5	111	broad.mit.edu	37	chr3	123044231	123044231	+	Frame_Shift_Del	DEL	C	C	-													gttgtagaaggggcgctcagCcccccagtgtggtgggttgt					rs151195921		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:123044230_123044230GC>G	uc003egh.2	-	7	2027	c.2027_2027GC>C	c.(2026-2028)gctfs	p.A676fs	ADCY5_uc021xdd.1_Frame_Shift_Del_p.A326fs|ADCY5_uc003egg.2_Frame_Shift_Del_p.A309fs|ADCY5_uc003egi.1_Frame_Shift_Del_p.A235fs	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	676					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGGGCGCTCAGCCCCCCAGTG	0.587													-	123044231	C	-	123044231	7	5	21	1	0	1	0	1	0	0	0	0	297	739	26	0	1815	0	ADCY5	3	123044231	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	1063175	123044231	74978199	141	19876											
HEG1	57493	broad.mit.edu	37	chr3	124732092	124732092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgctctggctcttaagGtctgcagtttgactactatg	13	8	3	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:124732092G>A	uc003ehs.3	-	6	2399	c.2331C>T	c.(2329-2331)GAC>GAT	p.D777D	HEG1_uc011bke.1_Silent_p.D877D	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	777	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						GGCTCTTAAGGTCTGCAGTTT	0.488													A	124732092	G	A	124732092	2	1	21	1	0	0	0	0	0	0	0	1	7044	1252	44	4		4	HEG1	3	124732092	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1687861	124732092	73290338	142	19877											
ZNF148	7707	broad.mit.edu	37	chr3	124952718	124952719	+	Frame_Shift_Ins	INS	-	-	T													tgatggcacatctatttagtINStttttgtcatgattttcatg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:124952717_124952718G>GT	uc003ehx.4	-	8	1338_1339	c.852_853C>AC	c.(850-855)aaactafs	p.K284fs	SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Frame_Shift_Ins_p.K284fs|ZNF148_uc010hsa.3_Frame_Shift_Ins_p.K284fs|ZNF148_uc003eia.4_Frame_Shift_Ins_p.K284fs|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	284					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CATCTATTTAGTTTTTTGTCAT	0.381													T	124952719	-	T	124952718	7	5	21	1	0	1	1	0	0	0	0	0	17731	1722	60	0	1536	0	ZNF148	3	124952718	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	220626	124952718	73069712	143	19878											
KY	339855	broad.mit.edu	37	chr3	134348463	134348463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacctgtgtcatacatacGtttagccaaggagaacttct	8	9	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:134348463G>A	uc010hty.2	-	4	399	c.337C>T	c.(337-339)CGT>TGT	p.R113C	KY_uc011blw.1_Missense_Mutation_p.R113C|KY_uc011blx.1_Missense_Mutation_p.R92C|KY_uc003eqs.1_Missense_Mutation_p.R133C	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	113						cytoskeleton|Z disc	peptidase activity			ovary(2)	2						TCATACATACGTTTAGCCAAG	0.532													A	134348463	G	A	134348463	3	1	21	1	0	0	0	0	1	0	0	0	8586	1159	40	1	1680	1	KY	3	134348463	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	9395745	134348463	63673967	144	19879											
EPHB1	2047	broad.mit.edu	37	chr3	134960059	134960059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaagttcacttcagccagcGacgtttggagctatgggatc	12	10	2	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:134960059G>A	uc003eqt.2	+	13	2636	c.2416G>A	c.(2416-2418)GAC>AAC	p.D806N	EPHB1_uc003equ.2_Missense_Mutation_p.D367N	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	806	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						TTCAGCCAGCGACGTTTGGAG	0.527													A	134960059	G	A	134960059	3	1	21	1	0	0	0	0	1	0	0	0	5174	1058	37	1	2466	1	EPHB1	3	134960059	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	611596	134960059	63062371	145	19880											
PLSCR5	389158	broad.mit.edu	37	chr3	146307501	146307501	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctagatctgcaggaacaTgaattccgaaattgtcagca	8	9	3	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:146307501T>C	uc003ewb.2	-	6	1720	c.716A>G	c.(715-717)CAT>CGT	p.H239R	PLSCR5_uc010hvb.2_Missense_Mutation_p.H227R|PLSCR5_uc010hvc.2_Missense_Mutation_p.H239R	NM_001085420	NP_001078889	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	239											0						TGCAGGAACATGAATTCCGAA	0.373													C	146307501	T	C	146307501	3	2	21	1	0	0	0	0	1	0	0	0	12113	1464	51	3	107	3	PLSCR5	3	146307501	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	11347442	146307501	51714929	146	19881											
ZIC1	7545	broad.mit.edu	37	chr3	147128660	147128660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatgcacgagctagttaCgcacgtcaccgtggagcacg	11	14	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:147128660C>T	uc003ewe.2	+	1	1480	c.761C>T	c.(760-762)ACG>ATG	p.T254M		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	254	C2H2-type 1; atypical.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GAGCTAGTTACGCACGTCACC	0.557													T	147128660	C	T	147128660	3	4	21	1	0	0	0	0	1	0	0	0	17675	536	19	1	763	1	ZIC1	3	147128660	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	821159	147128660	50893770	147	19882											
MED12L	116931	broad.mit.edu	37	chr3	150845627	150845627	+	Frame_Shift_Del	DEL	A	A	-													tttaggttcctatccttagtAaaaaagaggatgtttttgca							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:150845627delA	uc003eyp.2	+	4	450	c.412delA	c.(412-414)AAAfs	p.K138fs	MED12L_uc011bnz.1_Frame_Shift_Del_p.K138fs|MED12L_uc003eym.1_Frame_Shift_Del_p.K138fs|MED12L_uc003eyn.2_Frame_Shift_Del_p.K138fs|MED12L_uc003eyo.2_Frame_Shift_Del_p.K138fs	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	138					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TATCCTTAGTAAAAAAGAGGA	0.333													-	150845627	A	-	150845627	7	5	21	1	0	1	0	1	0	0	0	0	9429	363	13	0	426	0	MED12L	3	150845627	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	3716967	150845627	47176803	148	19883											
MED12L	116931	broad.mit.edu	37	chr3	151093846	151093846	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcattgcttaaaagaaccTgaaagattatgtacagacaa	8	6	0	4			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:151093846T>C	uc003eyp.2	+	26	3830	c.3792T>C	c.(3790-3792)CCT>CCC	p.P1264P	MED12L_uc011bnz.1_Silent_p.P1124P|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Silent_p.P427P	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1264					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAAAAGAACCTGAAAGATTAT	0.353													C	151093846	T	C	151093846	2	2	21	1	0	0	0	0	0	0	0	1	9429	1567	55	3		3	MED12L	3	151093846	Silent	SNP	T	TCGA-BR-4363-01A-01D-1158-08	248219	151093846	46928584	149	19884											
PLCH1	23007	broad.mit.edu	37	chr3	155206450	155206450	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggccagctcatacctaccAggcactaagctgctgaaggt	10	12	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:155206450A>G	uc011bok.1	-	19	2779	c.2502T>C	c.(2500-2502)CCT>CCC	p.P834P	PLCH1_uc011boj.1_Silent_p.P834P|PLCH1_uc011bol.1_Silent_p.P816P	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	834					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CATACCTACCAGGCACTAAGC	0.418													G	155206450	A	G	155206450	2	3	21	1	0	0	0	0	0	0	0	1	12037	202	7	3		3	PLCH1	3	155206450	Silent	SNP	A	TCGA-BR-4363-01A-01D-1158-08	4112604	155206450	42815980	150	19885											
SERPINI1	5274	broad.mit.edu	37	chr3	167540780	167540780	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctctttttgcagataataAggagatttttctttccaaag	6	6	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:167540780A>G	uc003ffa.3	+	7	1184	c.986A>G	c.(985-987)AAG>AGG	p.K329R	SERPINI1_uc003ffb.3_Missense_Mutation_p.K329R	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN	neuroserpin precursor	329					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(1)	1						GCAGATAATAAGGAGATTTTT	0.338													G	167540780	A	G	167540780	3	3	21	1	0	0	0	0	1	0	0	0	14118	72	3	3	1008	3	SERPINI1	3	167540780	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	12334330	167540780	30481650	151	19886											
LRRC31	79782	broad.mit.edu	37	chr3	169572662	169572662	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatctaggacttgtagatgCtttagcatgaccaactgagc	10	8	1	4			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:169572662C>A	uc003fgc.1	-	6	1007	c.930G>T	c.(928-930)AAG>AAT	p.K310N	LRRC31_uc010hwp.1_Missense_Mutation_p.K254N	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	310										ovary(2)|skin(1)	3	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CTTGTAGATGCTTTAGCATGA	0.428													A	169572662	C	A	169572662	3	1	21	1	0	0	0	0	1	0	0	0	8986	796	28	5	744	5	LRRC31	3	169572662	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	2031882	169572662	28449768	152	19887											
IGF2BP2	10644	broad.mit.edu	37	chr3	185407313	185407313	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagagtggtccccacgctgGgctcgctgagggggcgaagg	19	10	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:185407313G>T	uc003fpo.2	-	6	586	c.507C>A	c.(505-507)GCC>GCA	p.A169A	IGF2BP2_uc010hyi.2_Silent_p.A112A|IGF2BP2_uc010hyj.2_Silent_p.A106A|IGF2BP2_uc010hyk.2_Silent_p.A33A|IGF2BP2_uc010hyl.2_Silent_p.A106A|IGF2BP2_uc003fpp.2_Silent_p.A169A|IGF2BP2_uc003fpq.2_Silent_p.A174A	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding	169					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity				0	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CCCCACGCTGGGCTCGCTGAG	0.612													T	185407313	G	T	185407313	2	4	21	1	0	0	0	0	0	0	0	1	7574	1219	43	5		5	IGF2BP2	3	185407313	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	15834651	185407313	12615117	153	19888											
HTT	3064	broad.mit.edu	37	chr4	3136230	3136230	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcctattggctggtgaggAcagagcttctggaaaccctt	12	9	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:3136230A>G	uc011bvq.1	+	20	2747	c.2602A>G	c.(2602-2604)ACA>GCA	p.T868A		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	866					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCTGGTGAGGACAGAGCTTCT	0.463													G	3136230	A	G	3136230	3	3	21	1	0	0	0	0	1	0	0	0	7457	275	10	3	2670	3	HTT	4	3136230	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08		3136230	188018046	154	19889											
TADA2B	93624	broad.mit.edu	37	chr4	7056038	7056038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccgctgcgggatgattacGagatcgagtatgaccaggat	14	8	0	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:7056038G>A	uc003gjw.3	+	2	671	c.520G>A	c.(520-522)GAG>AAG	p.E174K	TADA2B_uc010idi.2_Missense_Mutation_p.E99K	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2 (ADA2 homolog,	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding				0						GGATGATTACGAGATCGAGTA	0.627													A	7056038	G	A	7056038	3	1	21	1	0	0	0	0	1	0	0	0	15508	1059	37	1	526	1	TADA2B	4	7056038	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	3919808	7056038	184098238	155	19890											
KLHL5	51088	broad.mit.edu	37	chr4	39116879	39116879	+	Frame_Shift_Del	DEL	G	G	-													gtgataagttatatgctgttGgggggtatgatggacaggca							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:39116878_39116878TG>T	uc003gtr.2	+	9	2422	c.2139_2139TG>T	c.(2137-2139)gttfs	p.V713fs	KLHL5_uc003gtp.3_Frame_Shift_Del_p.V667fs|KLHL5_uc003gtq.3_Frame_Shift_Del_p.V526fs|KLHL5_uc003gts.3_Frame_Shift_Del_p.V713fs|KLHL5_uc003gtt.3_Frame_Shift_Del_p.V652fs	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.	713						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TATATGCTGTTGGGGGGTATG	0.453													-	39116879	G	-	39116879	7	5	21	1	0	1	0	1	0	0	0	0	8392	1348	47	0	2178	0	KLHL5	4	39116879	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	32060841	39116879	152037397	156	19891											
SRP72	6731	broad.mit.edu	37	chr4	57354156	57354156	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	taatattgagaagcatagagGagttaaagcataaaccaggc	10	5	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:57354156G>T	uc003hbv.2	+	12	1241	c.1201G>T	c.(1201-1203)GAG>TAG	p.E401*	SRP72_uc010ihe.2_Nonsense_Mutation_p.E340*|SRP72_uc003hbw.1_Nonsense_Mutation_p.E162*	NM_006947	NP_008878	O76094	SRP72_HUMAN	signal recognition particle 72kDa	401					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)					AAGCATAGAGGAGTTAAAGCA	0.259													T	57354156	G	T	57354156	4	4	21	1	0	0	0	0	0	1	0	0	15156	1175	41	5	1247	5	SRP72	4	57354156	Nonsense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	18237277	57354156	133800120	157	19892											
REST	5978	broad.mit.edu	37	chr4	57797557	57797557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagttggcttagtgcctGttaaagatagctggcttcta	11	6	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:57797557G>A	uc003hch.2	+	4	2880	c.2533G>A	c.(2533-2535)GTT>ATT	p.V845I	REST_uc003hci.2_Missense_Mutation_p.V845I|REST_uc010ihf.2_Missense_Mutation_p.V519I	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	845					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Glioma(25;0.08)|all_neural(26;0.181)					CTTAGTGCCTGTTAAAGATAG	0.443													A	57797557	G	A	57797557	3	1	21	1	0	0	0	0	1	0	0	0	13234	1377	48	4	2543	4	REST	4	57797557	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	443401	57797557	133356719	158	19893											
C4orf40	401137	broad.mit.edu	37	chr4	71024318	71024318	+	Frame_Shift_Del	DEL	T	T	-													cgtttgtccctccttcaaggTttttttcagcagctgcagca					rs148239542		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:71024317_71024317GT>G	uc003hfa.4	+	3	421	c.348_348GT>G	c.(346-348)aggfs	p.R116fs	C4orf40_uc003hfb.4_Frame_Shift_Del_p.R116fs	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	116						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTCCTTCAAGGTTTTTTTCAG	0.547													-	71024318	T	-	71024318	7	5	21	1	0	1	0	1	0	0	0	0	2269	1725	60	0	359	0	C4orf40	4	71024318	Frame_Shift_Del	DEL	T	TCGA-BR-4363-01A-01D-1158-08	13226761	71024318	120129958	159	19894											
ANKRD17	26057	broad.mit.edu	37	chr4	74005551	74005551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatccacttgctgtaaccGtgcatagtctccctcagaaa	8	12	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:74005551G>A	uc003hgp.2	-	15	2899	c.2782C>T	c.(2782-2784)CGG>TGG	p.R928W	ANKRD17_uc003hgo.2_Missense_Mutation_p.R815W|ANKRD17_uc003hgq.2_Intron|ANKRD17_uc003hgr.2_Missense_Mutation_p.R928W|ANKRD17_uc011cbd.1_Missense_Mutation_p.R493W	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	928	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCTGTAACCGTGCATAGTCT	0.498													A	74005551	G	A	74005551	3	1	21	1	0	0	0	0	1	0	0	0	646	1144	40	1	5109	1	ANKRD17	4	74005551	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	2981233	74005551	117148725	160	19895											
HELQ	113510	broad.mit.edu	37	chr4	84370031	84370031	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaatctcagccacgagggTttttccaccacttgttggca	8	11	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:84370031T>G	uc003hom.2	-	3	1275	c.1096A>C	c.(1096-1098)ACC>CCC	p.T366P	HELQ_uc010ikb.2_Missense_Mutation_p.T366P|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA|HELQ_uc003hon.1_Missense_Mutation_p.T260P	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	366	ATP (By similarity).|Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)|skin(1)	3						GCCACGAGGGTTTTTCCACCA	0.353								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					G	84370031	T	G	84370031	3	3	21	1	0	0	0	0	1	0	0	0	7047	1725	60	5	2273	5	HELQ	4	84370031	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	10364480	84370031	106784245	161	19896											
NKX6-1	4825	broad.mit.edu	37	chr4	85414492	85414492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtaggaggccgccgccgcCgccgctgctggacttgtgct	15	15	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:85414492C>T	uc003hpa.1	-	3	1060	c.1054G>A	c.(1054-1056)GGC>AGC	p.G352S		NM_006168	NP_006159	P78426	NKX61_HUMAN	NK6 transcription factor related, locus 1	352	Poly-Gly.|Involved in DNA-binding (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus					0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		CCGCCGCCGCCGCCGCTGCTG	0.657													T	85414492	C	T	85414492	3	4	21	1	0	0	0	0	1	0	0	0	10457	652	23	1	53	1	NKX6-1	4	85414492	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1044461	85414492	105739784	162	19897											
WDFY3	23001	broad.mit.edu	37	chr4	85676453	85676454	+	Frame_Shift_Ins	INS	-	-	A													gcggagcattcccaataataINSaaaaaacagcttctgtgcat							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:85676452_85676453T>TA	uc003hpd.3	-	33	5933_5934	c.5525_5526A>TA	c.(5524-5526)ttafs	p.L1842fs		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1842						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTCCCAATAATAAAAAAACAGC	0.421													A	85676454	-	A	85676453	7	5	21	1	0	1	1	0	0	0	0	0	17267	372	13	0	5195	0	WDFY3	4	85676453	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	261961	85676453	105477823	163	19898											
ARHGAP24	83478	broad.mit.edu	37	chr4	86916554	86916554	+	Frame_Shift_Del	DEL	T	T	-													ccacctgcccagagcaagacTtttttggggggaactttgag							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:86916553_86916553CT>C	uc003hpk.3	+	8	2195	c.1746_1746CT>C	c.(1744-1746)gacfs	p.D582fs	ARHGAP24_uc003hpl.3_Frame_Shift_Del_p.D487fs|ARHGAP24_uc010ikf.3_Frame_Shift_Del_p.D497fs|ARHGAP24_uc003hpm.3_Frame_Shift_Del_p.D489fs	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	582					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CAGAGCAAGACTTTTTTGGGG	0.552													-	86916554	T	-	86916554	7	5	21	1	0	1	0	1	0	0	0	0	873	1609	56	0	1893	0	ARHGAP24	4	86916554	Frame_Shift_Del	DEL	T	TCGA-BR-4363-01A-01D-1158-08	1240101	86916554	104237722	164	19899											
SPARCL1	8404	broad.mit.edu	37	chr4	88414917	88414917	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcagtgccgccatcatcGccatcatcatcgccatcatc	5	18	5	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:88414917G>A	uc010ikm.2	-	5	1607	c.1035C>T	c.(1033-1035)GGC>GGT	p.G345G	SPARCL1_uc011cdc.1_Silent_p.G220G|SPARCL1_uc003hqs.3_Silent_p.G345G|SPARCL1_uc011cdd.1_Silent_p.G220G|SPARCL1_uc003hqt.2_Silent_p.G345G	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN	SPARC-like 1 precursor	345					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CGCcatcatcgccatcatcat	0.438													A	88414917	G	A	88414917	2	1	21	1	0	0	0	0	0	0	0	1	14995	1074	38	1		1	SPARCL1	4	88414917	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1498363	88414917	102739359	165	19900											
DMP1	1758	broad.mit.edu	37	chr4	88583274	88583274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggagatgacacctttgGtgacgatgacagtggcccag	14	9	0	4			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:88583274G>A	uc003hqv.2	+	6	448	c.344G>A	c.(343-345)GGT>GAT	p.G115D	DMP1_uc003hqw.2_Missense_Mutation_p.G99D	NM_004407	NP_004398	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1 isoform 1	115					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			pancreas(1)|skin(1)	2		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GACACCTTTGGTGACGATGAC	0.488													A	88583274	G	A	88583274	3	1	21	1	0	0	0	0	1	0	0	0	4583	1261	44	4	362	4	DMP1	4	88583274	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	168357	88583274	102571002	166	19901											
RG9MTD2	93587	broad.mit.edu	37	chr4	100479282	100479282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaacatctcttcgaacaCgttttctgtcatgtccatct	5	12	4	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:100479282C>T	uc003huy.2	-	3	585	c.272G>A	c.(271-273)CGT>CAT	p.R91H	RG9MTD2_uc003huz.3_Missense_Mutation_p.R91H|RG9MTD2_uc003hva.3_Missense_Mutation_p.R91H	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	RNA (guanine-9-) methyltransferase domain	91							methyltransferase activity			ovary(2)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		TCTTCGAACACGTTTTCTGTC	0.348													T	100479282	C	T	100479282	3	4	21	1	0	0	0	0	1	0	0	0	13272	536	19	1	771	1	RG9MTD2	4	100479282	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	11896008	100479282	90674994	167	19902											
CFI	3426	broad.mit.edu	37	chr4	110681532	110681532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatggaagcctttgccttgGcatgctgtgcaaacataagc	10	10	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:110681532G>A	uc003hzr.3	-	6	985	c.777C>T	c.(775-777)TGC>TGT	p.C259C	CFI_uc003hzq.2_Silent_p.C56C|CFI_uc011cft.1_Silent_p.C259C|CFI_uc003hzs.3_Silent_p.C259C	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	259	LDL-receptor class A 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CTTTGCCTTGGCATGCTGTGC	0.403													A	110681532	G	A	110681532	2	1	21	1	0	0	0	0	0	0	0	1	3289	1195	42	2		2	CFI	4	110681532	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	10202250	110681532	80472744	168	19903											
QRFPR	84109	broad.mit.edu	37	chr4	122257967	122257967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaactggagtctacctcaaGttgttgcacgtgccacatgg	10	11	3	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:122257967G>A	uc010inj.1	-	3	935	c.556C>T	c.(556-558)CTT>TTT	p.L186F	QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Missense_Mutation_p.L186F	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	G protein-coupled receptor 103	186	Extracellular (Potential).					plasma membrane	neuropeptide Y receptor activity				0						TCTACCTCAAGTTGTTGCACG	0.418													A	122257967	G	A	122257967	3	1	21	1	0	0	0	0	1	0	0	0	12878	1029	36	4	755	4	QRFPR	4	122257967	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	11576435	122257967	68896309	169	19904											
ANXA5	308	broad.mit.edu	37	chr4	122602903	122602903	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgtcagtactttttcaTttgttccagctccctgtttg	6	10	3	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:122602903T>C	uc003idu.3	-	5	387	c.317A>G	c.(316-318)AAT>AGT	p.N106S	ANXA5_uc003idv.3_Missense_Mutation_p.N106S|ANXA5_uc003idw.3_RNA|ANXA5_uc010inm.2_Missense_Mutation_p.N106S|ANXA5_uc010inn.2_Missense_Mutation_p.N46S|ANXA5_uc010ino.2_Intron	NM_001154	NP_001145	P08758	ANXA5_HUMAN	annexin 5	106	Annexin 2.				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			ovary(1)	1						TACTTTTTCATTTGTTCCAGC	0.308													C	122602903	T	C	122602903	3	2	21	1	0	0	0	0	1	0	0	0	721	1493	52	3	677	3	ANXA5	4	122602903	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	344936	122602903	68551373	170	19905											
KIAA1109	84162	broad.mit.edu	37	chr4	123192637	123192637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaataacaaaaaggaatctcGaaacaagaattcattaggaa	7	5	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:123192637G>A	uc003ieh.2	+	45	8003	c.7958G>A	c.(7957-7959)CGA>CAA	p.R2653Q	KIAA1109_uc003iel.1_Missense_Mutation_p.R588Q|KIAA1109_uc003iek.2_Missense_Mutation_p.R1272Q	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2653					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AAGGAATCTCGAAACAAGAAT	0.368													A	123192637	G	A	123192637	3	1	21	1	0	0	0	0	1	0	0	0	8208	1058	37	1	8136	1	KIAA1109	4	123192637	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	589734	123192637	67961639	171	19906											
ADAD1	132612	broad.mit.edu	37	chr4	123302211	123302212	+	Frame_Shift_Ins	INS	-	-	A													caaatcctgtccttcctccaINSaaaaaaatacctaaggaatt							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:123302210_123302211C>CA	uc003ieo.3	+	3	468_469	c.236_237C>CA	c.(235-237)ccafs	p.P79fs	ADAD1_uc003iep.3_Frame_Shift_Ins_p.P79fs|ADAD1_uc003ieq.3_Frame_Shift_Ins_p.P61fs	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	79					RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTCCTTCCTCCAAAAAAAATAC	0.356													A	123302212	-	A	123302211	7	5	21	1	0	1	1	0	0	0	0	0	231	117	5	0	243	0	ADAD1	4	123302211	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	109574	123302211	67852065	172	19907											
PHF17	79960	broad.mit.edu	37	chr4	129783052	129783052	+	Frame_Shift_Del	DEL	C	C	-													gaatggggcccctgagtgttCcccccggaatccgctggagc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:129783051_129783051TC>T	uc011cgy.2	+	8	1488	c.1174_1174TC>T	c.(1174-1176)tccfs	p.S392fs	PHF17_uc003igj.3_Frame_Shift_Del_p.S392fs|PHF17_uc003igk.3_Frame_Shift_Del_p.S392fs|PHF17_uc003igl.3_Frame_Shift_Del_p.S380fs|PHF17_uc003igm.3_Frame_Shift_Del_p.S392fs	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	392					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCCTGAGTGTTCCCCCCGGAA	0.597													-	129783052	C	-	129783052	7	5	21	1	0	1	0	1	0	0	0	0	11828	855	30	0	1205	0	PHF17	4	129783052	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	6480841	129783052	61371224	173	19908											
INPP4B	8821	broad.mit.edu	37	chr4	143094842	143094842	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggagaatgctggcttgcAgaattaagcagtaggtctgc	13	7	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:143094842A>G	uc003iix.3	-	17	1897	c.1302T>C	c.(1300-1302)TCT>TCC	p.S434S	INPP4B_uc003iiw.3_Silent_p.S434S|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Silent_p.S249S|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Silent_p.S305S	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	434					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					GCTGGCTTGCAGAATTAAGCA	0.383													G	143094842	A	G	143094842	2	3	21	1	0	0	0	0	0	0	0	1	7753	175	7	3		3	INPP4B	4	143094842	Silent	SNP	A	TCGA-BR-4363-01A-01D-1158-08	13311790	143094842	48059434	174	19909											
NR3C2	4306	broad.mit.edu	37	chr4	149356493	149356493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatagcagaggaagggatgCtggcctctgggtaatagctc	14	8	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:149356493C>T	uc003ilj.3	-	2	1854	c.1520G>A	c.(1519-1521)AGC>AAC	p.S507N	NR3C2_uc003ilk.3_Missense_Mutation_p.S507N|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	507	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGAAGGGATGCTGGCCTCTGG	0.502													T	149356493	C	T	149356493	3	4	21	1	0	0	0	0	1	0	0	0	10631	797	28	2	1466	2	NR3C2	4	149356493	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	6261651	149356493	41797783	175	19910											
RBM46	166863	broad.mit.edu	37	chr4	155720669	155720669	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacaaactctgtactacgtTagaagatgcaaaggaactgg	10	7	1	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:155720669T>C	uc003ioo.2	+	4	1528	c.1355T>C	c.(1354-1356)TTA>TCA	p.L452S	RBM46_uc011cim.1_Missense_Mutation_p.L452S|RBM46_uc003iop.1_Missense_Mutation_p.L452S	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	452							nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				TGTACTACGTTAGAAGATGCA	0.348													C	155720669	T	C	155720669	3	2	21	1	0	0	0	0	1	0	0	0	13140	1764	61	3	1365	3	RBM46	4	155720669	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	6364176	155720669	35433607	176	19911											
CPE	1363	broad.mit.edu	37	chr4	166388881	166388881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgggtcgaagcaatgcCcagggaatagatctgaaccg	13	8	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:166388881C>T	uc003irg.3	+	3	823	c.546C>T	c.(544-546)GCC>GCT	p.A182A		NM_001873	NP_001864	P16870	CBPE_HUMAN	carboxypeptidase E preproprotein	182					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAAGCAATGCCCAGGGAATAG	0.378													T	166388881	C	T	166388881	2	4	21	1	0	0	0	0	0	0	0	1	3799	610	22	4		4	CPE	4	166388881	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	10668212	166388881	24765395	177	19912											
KIAA1712	80817	broad.mit.edu	37	chr4	175220290	175220290	+	Frame_Shift_Del	DEL	A	A	-													gtaatggcaacaggtgacttAaaaagaagcttacggaacct							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:175220290delA	uc003itr.2	+	3	432	c.18delA	c.(16-18)TTAfs	p.L6fs	KIAA1712_uc010iro.2_Frame_Shift_Del_p.L6fs|KIAA1712_uc003its.2_RNA	NM_001040157	NP_001035247	Q9C0F1	CEP44_HUMAN	HBV PreS1-transactivated protein 3 isoform a	6						centrosome|midbody|spindle pole					0		Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949)		CAGGTGACTTAAAAAGAAGCT	0.363													-	175220290	A	-	175220290	7	5	21	1	0	1	0	1	0	0	0	0	8253	359	13	0	20	0	KIAA1712	4	175220290	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	8831409	175220290	15933986	178	19913											
TLR3	7098	broad.mit.edu	37	chr4	186997931	186997931	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatgatctacccacaaacaTaacagtgttgaaccttaccc	5	13	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:186997931T>C	uc003iyq.2	+	2	259	c.158T>C	c.(157-159)ATA>ACA	p.I53T		NM_003265	NP_003256	O15455	TLR3_HUMAN	toll-like receptor 3 precursor	53	LRR 1.|Lumenal (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			ovary(2)|prostate(1)|lung(1)|breast(1)	5		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CCCACAAACATAACAGTGTTG	0.473													C	186997931	T	C	186997931	3	2	21	1	0	0	0	0	1	0	0	0	15949	1406	49	3	160	3	TLR3	4	186997931	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	11777641	186997931	4156345	179	19914											
DNAH5	1767	broad.mit.edu	37	chr5	13928247	13928247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatagtaaaacatgaggtgtCggagacctccaacagcaaaa	10	8	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:13928247C>T	uc003jfd.2	-	3	275	c.233G>A	c.(232-234)CGA>CAA	p.R78Q	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	78	Stem (By similarity).				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)					CATGAGGTGTCGGAGACCTCC	0.348									Kartagener_syndrome				T	13928247	C	T	13928247	3	4	21	1	0	0	0	0	1	0	0	0	4604	884	31	1	13949	1	DNAH5	5	13928247	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08		13928247	166987013	180	19915											
FBXL7	23194	broad.mit.edu	37	chr5	15936714	15936714	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcgcggcgcactgcacgCagctcacccacctctacctg	8	20	2	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:15936714C>T	uc003jfn.1	+	4	1376	c.895C>T	c.(895-897)CAG>TAG	p.Q299*		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	299	LRR 5.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						GCACTGCACGCAGCTCACCCA	0.627													T	15936714	C	T	15936714	4	4	21	1	0	0	0	0	0	1	0	0	5724	711	25	2	909	2	FBXL7	5	15936714	Nonsense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	2008467	15936714	164978546	181	19916											
AMACR	23600	broad.mit.edu	37	chr5	34004802	34004802	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagattcagcggggcataCggattctcaccacttctgcc	11	12	3	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:34004802C>T	uc003jig.2	-	3	511	c.429G>A	c.(427-429)CCG>CCA	p.P143P	AMACR_uc003jih.2_Intron|AMACR_uc003jii.2_Silent_p.P143P|AMACR_uc003jij.2_Silent_p.P143P|AMACR_uc003jil.1_Silent_p.P143P|AMACR_uc003jik.1_Intron	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase isoform 1	143					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity				0						GCGGGGCATACGGATTCTCAC	0.408													T	34004802	C	T	34004802	2	4	21	1	0	0	0	0	0	0	0	1	562	523	19	1		1	AMACR	5	34004802	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	18068088	34004802	146910458	182	19917											
CKMT2	1160	broad.mit.edu	37	chr5	80550869	80550869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctcgggtgcgcactggcCgcagcatccgtgggctgagc	15	14	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:80550869C>T	uc003khc.3	+	6	747	c.505C>T	c.(505-507)CGC>TGC	p.R169C	RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Missense_Mutation_p.R169C|CKMT2_uc003khd.3_Missense_Mutation_p.R169C|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	sarcomeric mitochondrial creatine kinase	169	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	GCGCACTGGCCGCAGCATCCG	0.657													T	80550869	C	T	80550869	3	4	21	1	0	0	0	0	1	0	0	0	3451	652	23	1	519	1	CKMT2	5	80550869	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	46546067	80550869	100364391	183	19918											
RASA1	5921	broad.mit.edu	37	chr5	86564686	86564687	+	Frame_Shift_Ins	INS	-	-	C													ttttccccctctgccccctcINSccccttacctgccccctttg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:86564685_86564686T>TC	uc003kiw.3	+	0	616_617	c.417_418T>TC	c.(415-420)cctcccfs	p.P139fs	RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_5'Flank|RASA1_uc011ctv.2_5'Flank|RASA1_uc011ctw.2_5'Flank|RASA1_uc010jaw.3_5'Flank	NM_002890	NP_002881	P20936	RASA1_HUMAN	Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA.	139	Poly-Pro.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of Ras protein signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|regulation of RNA metabolic process|regulation of actin filament polymerization|regulation of cell shape|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	GTPase binding|Ras GTPase activator activity|glycoprotein binding|potassium channel inhibitor activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CTCTGCCCCCTCCCCCTTACCT	0.619													C	86564687	-	C	86564686	7	5	21	1	0	1	1	0	0	0	0	0	13060	855	30	0	420	0	RASA1	5	86564686	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	6013817	86564686	94350574	184	19919											
GPR98	84059	broad.mit.edu	37	chr5	90000297	90000297	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtcattctgtatgatgtcaGgacacaaggtaattcagaat	9	6	4	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:90000297G>T	uc003kju.2	+	36	8474	c.8378G>T	c.(8377-8379)AGG>ATG	p.R2793M	GPR98_uc003kjt.2_Missense_Mutation_p.R499M|GPR98_uc003kjv.2_Missense_Mutation_p.R393M	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2793	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATGATGTCAGGACACAAGGT	0.303													T	90000297	G	T	90000297	3	4	21	1	0	0	0	0	1	0	0	0	6721	1000	35	5	8520	5	GPR98	5	90000297	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	3435611	90000297	90914963	185	19920											
DMXL1	1657	broad.mit.edu	37	chr5	118465026	118465026	+	Frame_Shift_Del	DEL	T	T	-													ttttactttgtccatggaagTttttttacagcaacttagaa							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:118465025_118465025GT>G	uc010jcl.1	+	9	1403	c.1222_1222GT>G	c.(1222-1224)gttfs	p.V408fs	DMXL1_uc003ksd.2_Frame_Shift_Del_p.V408fs|DMXL1_uc021ycw.1_Frame_Shift_Del_p.V235fs|DMXL1_uc003ksc.1_Frame_Shift_Del_p.V408fs	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	408										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTCCATGGAAGTTTTTTTACA	0.348													-	118465026	T	-	118465026	7	5	21	1	0	1	0	1	0	0	0	0	4594	1725	60	0	1261	0	DMXL1	5	118465026	Frame_Shift_Del	DEL	T	TCGA-BR-4363-01A-01D-1158-08	28464729	118465026	62450234	186	19921											
FSTL4	23105	broad.mit.edu	37	chr5	132560966	132560966	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactgctgatgtggagttcGctcccattggctgcagacag	12	11	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:132560966G>A	uc003kyn.1	-	10	1406	c.1188C>T	c.(1186-1188)AGC>AGT	p.S396S	FSTL4_uc003kym.1_Missense_Mutation_p.A3V	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4 precursor	396	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTGGAGTTCGCTCCCATTGG	0.532													A	132560966	G	A	132560966	2	1	21	1	0	0	0	0	0	0	0	1	6079	1078	38	1		1	FSTL4	5	132560966	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	14095940	132560966	48354294	187	19922											
NEUROG1	4762	broad.mit.edu	37	chr5	134871302	134871302	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagtcttcctcgtcggTgaggaagccggataggtcac	14	11	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:134871302T>C	uc003lax.2	-	1	338	c.79A>G	c.(79-81)ACC>GCC	p.T27A		NM_006161	NP_006152	Q92886	NGN1_HUMAN	neurogenin 1	27					positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCTCGTCGGTGAGGAAGCCG	0.522													C	134871302	T	C	134871302	3	2	21	1	0	0	0	0	1	0	0	0	10352	1696	59	3	638	3	NEUROG1	5	134871302	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	2310336	134871302	46043958	188	19923											
KLHL3	26249	broad.mit.edu	37	chr5	136964109	136964109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtggcgtacagctgtcCgctaagcactccaacccctg	9	16	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:136964109C>T	uc010jek.2	-	13	1912	c.1468G>A	c.(1468-1470)GGA>AGA	p.G490R	KLHL3_uc011cyc.1_Missense_Mutation_p.G225R|KLHL3_uc003lbr.3_Missense_Mutation_p.G408R|KLHL3_uc011cyd.1_RNA	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	kelch-like 3	490	Kelch 4.					cytoplasm|cytoskeleton	actin binding|structural molecule activity				0		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TACAGCTGTCCGCTAAGCACT	0.448													T	136964109	C	T	136964109	3	4	21	1	0	0	0	0	1	0	0	0	8383	661	23	1	307	1	KLHL3	5	136964109	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	2092807	136964109	43951151	189	19924											
PCDHA3	56145	broad.mit.edu	37	chr5	140182453	140182453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggtgttcgtgctggaCgagaacgacaacgcgccggc	15	12	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:140182453C>T	uc003lhf.2	+	1	1671	c.1671C>T	c.(1669-1671)GAC>GAT	p.D557D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.D557D	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	557	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.687													T	140182453	C	T	140182453	2	4	21	1	0	0	0	0	0	0	0	1	11525	535	19	1		1	PCDHA3	5	140182453	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	3218344	140182453	40732807	190	19925											
PCDHA11	56138	broad.mit.edu	37	chr5	140250586	140250586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgggcgagataagcacaaCgcgtgccctggacgaggcag	15	12	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:140250586C>T	uc003lia.2	+	1	2756	c.1898C>T	c.(1897-1899)ACG>ATG	p.T633M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.T633M	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	633	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAAGCACAACGCGTGCCCTG	0.662													T	140250586	C	T	140250586	3	4	21	1	0	0	0	0	1	0	0	0	11521	536	19	1	1900	1	PCDHA11	5	140250586	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	68133	140250586	40664674	191	19926											
PCDHA13	56136	broad.mit.edu	37	chr5	140264030	140264030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgctgcggtgctcggcacCgcccaccgagggcgcgtgcg	17	16	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:140264030C>T	uc003lif.2	+	1	2177	c.2177C>T	c.(2176-2178)CCG>CTG	p.P726L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.P726L|PCDHA13_uc003lid.2_Missense_Mutation_p.P726L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	726	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCGGCACCGCCCACCGAG	0.647													T	140264030	C	T	140264030	3	4	21	1	0	0	0	0	1	0	0	0	11523	652	23	1	2179	1	PCDHA13	5	140264030	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	13444	140264030	40651230	192	19927											
PCDHB5	26167	broad.mit.edu	37	chr5	140515675	140515675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcactggacggtggggctcCgcccaggtccgggaccacca	15	15	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:140515675C>T	uc003liq.2	+	1	876	c.659C>T	c.(658-660)CCG>CTG	p.P220L		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	220	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGGGCTCCGCCCAGGTCC	0.557													T	140515675	C	T	140515675	3	4	21	1	0	0	0	0	1	0	0	0	11545	652	23	1	661	1	PCDHB5	5	140515675	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	251645	140515675	40399585	193	19928											
PCDHB16	57717	broad.mit.edu	37	chr5	140563517	140563517	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctacaccctgttcgtccgCgagaacaacagccccgccct	7	19	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:140563517C>T	uc003liv.2	+	1	2538	c.1383C>T	c.(1381-1383)CGC>CGT	p.R461R	PCDHB16_uc010jfw.1_Silent_p.R133R	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	461	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.R461H(1)		ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGTCCGCGAGAACAACA	0.587													T	140563517	C	T	140563517	2	4	21	1	0	0	0	0	0	0	0	1	11541	755	27	1		1	PCDHB16	5	140563517	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	47842	140563517	40351743	194	19929											
PCDHB9	56127	broad.mit.edu	37	chr5	140567312	140567312	+	Frame_Shift_Del	DEL	A	A	-													cggcacaaagagatggtcttAaaaatatcagaaaatacagc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:140567311_140567311TA>T	uc003liw.1	+	0	419	c.419_419TA>T	c.(418-420)ttafs	p.L140fs		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	140	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGATGGTCTTAAAAATATCA	0.413													-	140567312	A	-	140567312	7	5	21	1	0	1	0	1	0	0	0	0	11549	359	13	0	422	0	PCDHB9	5	140567312	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	3795	140567312	40347948	195	19930											
PCDHB14	56122	broad.mit.edu	37	chr5	140604527	140604527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagagactcaggcaccaacGcccaggtcaactactcgctg	9	15	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:140604527G>A	uc003ljb.2	+	1	1450	c.1450G>A	c.(1450-1452)GCC>ACC	p.A484T	PCDHB14_uc011dal.1_Missense_Mutation_p.A331T	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	484	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCACCAACGCCCAGGTCAA	0.642													A	140604527	G	A	140604527	3	1	21	1	0	0	0	0	1	0	0	0	11539	1087	38	1	1452	1	PCDHB14	5	140604527	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	37215	140604527	40310733	196	19931											
PCDHGA3	56112	broad.mit.edu	37	chr5	140724254	140724254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttgcctctgatggtggCgaccctgtccactctggcaa	12	13	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:140724254C>T	uc003ljm.1	+	1	654	c.654C>T	c.(652-654)GGC>GGT	p.G218G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Silent_p.G218G	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	218	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATGGTGGCGACCCTGTCC	0.532													T	140724254	C	T	140724254	2	4	21	1	0	0	0	0	0	0	0	1	11555	755	27	1		1	PCDHGA3	5	140724254	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	119727	140724254	40191006	197	19932											
PCDHGA3	56112	broad.mit.edu	37	chr5	140724659	140724659	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attacaatcacgtctctcacAagctcagtcccagaagaggg	8	12	4	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:140724659A>G	uc003ljm.1	+	1	1059	c.1059A>G	c.(1057-1059)ACA>ACG	p.T353T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.T113T|PCDHGA3_uc011dap.1_Silent_p.T353T	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	353	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCTCTCACAAGCTCAGTCC	0.478													G	140724659	A	G	140724659	2	3	21	1	0	0	0	0	0	0	0	1	11555	117	5	3		3	PCDHGA3	5	140724659	Silent	SNP	A	TCGA-BR-4363-01A-01D-1158-08	405	140724659	40190601	198	19933											
PCDHGC5	56097	broad.mit.edu	37	chr5	140857728	140857728	+	Frame_Shift_Del	DEL	C	C	-													cgagttcccctctggctctgCcccccgggagcagaaaaaaa							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:140857727_140857727GC>G	uc003lkv.2	+	0	2159	c.2044_2044GC>G	c.(2044-2046)gccfs	p.A682fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Frame_Shift_Del_p.A682fs|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	682					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGGCTCTGCCCCCCGGGA	0.512											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	140857728	C	-	140857728	7	5	21	1	0	1	0	1	0	0	0	0	11571	739	26	0		0	PCDHGC5	5	140857728	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	133069	140857728	40057532	199	19934											
JAKMIP2	9832	broad.mit.edu	37	chr5	147012314	147012314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagttcttgttgtaaccGgtgattttctgcctcctgtt	9	9	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:147012314G>A	uc003loq.1	-	13	2087	c.1705C>T	c.(1705-1707)CGG>TGG	p.R569W	JAKMIP2_uc011dbx.1_Missense_Mutation_p.R527W|JAKMIP2_uc003lor.1_Missense_Mutation_p.R548W|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.R569W	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	569	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTGTAACCGGTGATTTTCT	0.378													A	147012314	G	A	147012314	3	1	21	1	0	0	0	0	1	0	0	0	7941	1115	39	1	763	1	JAKMIP2	5	147012314	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	6154586	147012314	33902946	200	19935											
ARHGEF37	389337	broad.mit.edu	37	chr5	148980674	148980674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttgttccttccagttgCcgcagggagatctggatgtc	11	10	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:148980674C>T	uc003lra.1	+	3	254	c.190C>T	c.(190-192)CCG>TCG	p.P64S		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	hypothetical protein LOC389337	64	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0						CTTCCAGTTGCCGCAGGGAGA	0.468													T	148980674	C	T	148980674	3	4	21	1	0	0	0	0	1	0	0	0	906	739	26	2	196	2	ARHGEF37	5	148980674	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1968360	148980674	31934586	201	19936											
RBM22	55696	broad.mit.edu	37	chr5	150072483	150072483	+	Frame_Shift_Del	DEL	G	G	-													gtgggggtggagcaatgccaGggggcggtggcagagcaatg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:150072483delG	uc003lst.2	-	10	1228	c.1106delC	c.(1105-1107)CCTfs	p.P369fs		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	369	Pro-rich.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding				0		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCAATGCCAGGGGGCGGTGG	0.537													-	150072483	G	-	150072483	7	5	21	1	0	1	0	1	0	0	0	0	13122	1000	35	0	164	0	RBM22	5	150072483	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	1091809	150072483	30842777	202	19937											
GABRA6	2559	broad.mit.edu	37	chr5	161113339	161113339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggctatgacaatcggctgCggccgggatttggaggtaag	16	7	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:161113339C>T	uc003lyu.2	+	2	480	c.142C>T	c.(142-144)CGG>TGG	p.R48W		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	48	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAATCGGCTGCGGCCGGGATT	0.483										TCGA Ovarian(5;0.080)			T	161113339	C	T	161113339	3	4	21	1	0	0	0	0	1	0	0	0	6165	759	27	1	148	1	GABRA6	5	161113339	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	11040856	161113339	19801921	203	19938											
ODZ2	57451	broad.mit.edu	37	chr5	167673994	167673994	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttttgggcaccggacgccAggtgttctacaagtatggga	13	9	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:167673994A>G	uc010jjd.2	+	27	6023	c.6023A>G	c.(6022-6024)CAG>CGG	p.Q2008R	ODZ2_uc003lzr.3_Missense_Mutation_p.Q1778R|ODZ2_uc003lzt.3_Missense_Mutation_p.Q1381R|ODZ2_uc010jje.2_Missense_Mutation_p.Q1272R	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		ACCGGACGCCAGGTGTTCTAC	0.502													G	167673994	A	G	167673994	3	3	21	1	0	0	0	0	1	0	0	0	10835	188	7	3	6129	3	ODZ2	5	167673994	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	6560655	167673994	13241266	204	19939											
KCNMB1	3779	broad.mit.edu	37	chr5	169805926	169805926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggctctgaccttctccaCgtcggcccgggccgtctggt	12	15	3	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:169805926C>T	uc003maq.1	-	4	758	c.358G>A	c.(358-360)GTG>ATG	p.V120M	KCNIP1_uc003map.2_Intron	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated	120	Extracellular (Potential).				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			ovary(2)	2	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		ACCTTCTCCACGTCGGCCCGG	0.577													T	169805926	C	T	169805926	3	4	21	1	0	0	0	0	1	0	0	0	8074	536	19	1	221	1	KCNMB1	5	169805926	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	2131932	169805926	11109334	205	19940											
CPEB4	80315	broad.mit.edu	37	chr5	173359456	173359456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcttttaccttcaggtcGtctaaactattcatatccag	4	12	4	0	rs142106976		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:173359456G>A	uc003mcs.3	+	3	2617	c.1211G>A	c.(1210-1212)CGT>CAT	p.R404H	CPEB4_uc010jju.1_Intron|CPEB4_uc010jjv.2_Intron|CPEB4_uc011dfg.1_Intron|CPEB4_uc003mct.3_Missense_Mutation_p.R22H|CPEB4_uc003mcu.3_Intron	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	404							nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCTTCAGGTCGTCTAAACTAT	0.348													A	173359456	G	A	173359456	3	1	21	1	0	0	0	0	1	0	0	0	3803	1145	40	1	1221	1	CPEB4	5	173359456	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	3553530	173359456	7555804	206	19941											
RUFY1	80230	broad.mit.edu	37	chr5	179034632	179034634	+	In_Frame_Del	DEL	AGA	AGA	-													gacacactgtaggcagtgtgAgaaggagttctccatttccc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:179034631_179034633GAGA>G	uc003mka.1	+	16	1954_1956	c.1954_1956GAGA>G	c.(1954-1956)gag>G	p.E652del	RUFY1_uc003mkb.1_In_Frame_Del_p.E544del|RUFY1_uc003mkc.1_In_Frame_Del_p.E544del|RUFY1_uc003mkd.1_In_Frame_Del_p.E254del	NM_025158	NP_001035542	Q96T51	RUFY1_HUMAN	Homo sapiens RUN and FYVE domain containing 1 (RUFY1), transcript variant 1, mRNA.	652					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGGCAGTGTGAGAAGGAGTTCT	0.557										HNSCC(44;0.11)			-	179034634	AGA	-	179034632	7	5	21	1	0	1	0	1	0	0	0	0	13738	304	11	0	2021	0	RUFY1	5	179034632	In_Frame_Del	DEL	AGA	TCGA-BR-4363-01A-01D-1158-08	5675176	179034632	1880628	207	19942											
MAML1	9794	broad.mit.edu	37	chr5	179195922	179195922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccagccgcctgccgtgtcCgtggccagctcccacaacag	10	19	0	0	rs141541345	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:179195922C>T	uc003mkm.2	+	3	2066	c.1803C>T	c.(1801-1803)TCC>TCT	p.S601S	MAML1_uc003mkn.1_Silent_p.S601S	NM_014757	NP_055572	Q92585	MAML1_HUMAN	mastermind-like 1	601					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			lung(4)|ovary(2)	6	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCCGTGTCCGTGGCCAGCT	0.577													T	179195922	C	T	179195922	2	4	21	1	0	0	0	0	0	0	0	1	9205	639	23	1		1	MAML1	5	179195922	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	161290	179195922	1719338	208	19943											
RIOK1	83732	broad.mit.edu	37	chr6	7417589	7417589	+	Frame_Shift_Del	DEL	C	C	-													aaaaaagatggtcaaggaagCccagagagagaaaagaaaaa							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:7417589delC	uc003mxn.2	+	17	1796	c.1622delC	c.(1621-1623)GCCfs	p.A541fs	RIOK1_uc003mxo.2_Frame_Shift_Del_p.A300fs	NM_031480	NP_113668	Q9BRS2	RIOK1_HUMAN	RIO kinase 1 isoform 1	541							ATP binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|skin(1)	4	Ovarian(93;0.0418)					GTCAAGGAAGCCCAGAGAGAG	0.289													-	7417589	C	-	7417589	7	5	21	1	0	1	0	1	0	0	0	0	13377	739	26	0	1688	0	RIOK1	6	7417589	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08		7417589	163697478	209	19944											
HIVEP1	3096	broad.mit.edu	37	chr6	12122268	12122268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaaaaacacttgaggagcGgatatcgaagcttatctcag	9	9	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:12122268G>A	uc003nac.2	+	4	2419	c.2240G>A	c.(2239-2241)CGG>CAG	p.R747Q	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	747					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTTGAGGAGCGGATATCGAAG	0.502													A	12122268	G	A	12122268	3	1	21	1	0	0	0	0	1	0	0	0	7186	1116	39	1	2250	1	HIVEP1	6	12122268	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	4704679	12122268	158992799	210	19945											
JARID2	3720	broad.mit.edu	37	chr6	15511598	15511598	+	Frame_Shift_Del	DEL	C	C	-													cctgctgcaagccaatggcaCcccagggctgcagatgctgg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:15511598delC	uc003nbj.2	+	13	3162	c.2918delC	c.(2917-2919)ACCfs	p.T973fs	JARID2_uc011div.1_Frame_Shift_Del_p.T801fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	973	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GCCAATGGCACCCCAGGGCTG	0.557													-	15511598	C	-	15511598	7	5	21	1	0	1	0	1	0	0	0	0	7945	507	18	0	2968	0	JARID2	6	15511598	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	3389330	15511598	155603469	211	19946											
CDKAL1	54901	broad.mit.edu	37	chr6	21231094	21231094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataggacttcagaaatgggCttgggaaccagctgagttca	12	7	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:21231094C>T	uc003ndc.1	+	16	1738	c.1564C>T	c.(1564-1566)CTT>TTT	p.L522F	CDKAL1_uc003ndd.1_Missense_Mutation_p.L522F|CDKAL1_uc003nde.1_Missense_Mutation_p.L431F|CDKAL1_uc003ndf.1_Missense_Mutation_p.L35F|CDKAL1_uc003ndg.2_RNA	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein	522					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			ovary(2)	2	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			CAGAAATGGGCTTGGGAACCA	0.458													T	21231094	C	T	21231094	3	4	21	1	0	0	0	0	1	0	0	0	3152	797	28	2	1618	2	CDKAL1	6	21231094	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	5719496	21231094	149883973	212	19947											
HIST1H4F	8361	broad.mit.edu	37	chr6	26240923	26240923	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatggatgttgtctacgcGctcaagcgccagggacgcac	13	12	2	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:26240923G>A	uc003nhe.1	+	1	270	c.270G>A	c.(268-270)GCG>GCA	p.A90A		NM_003540	NP_003531	P62805	H4_HUMAN	histone cluster 1, H4f	90					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TTGTCTACGCGCTCAAGCGCC	0.542													A	26240923	G	A	26240923	2	1	21	1	0	0	0	0	0	0	0	1	7170	1074	38	1		1	HIST1H4F	6	26240923	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	5009829	26240923	144874144	213	19948											
FKSG83	83954	broad.mit.edu	37	chr6	27293382	27293382	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttcttttatgggactaaCgtgtgtctttccacttatat	7	7	2	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:27293382C>T	uc010jqt.2	+	1	805	c.321C>T	c.(319-321)AAC>AAT	p.N107N	FKSG83_uc010jqs.1_3'UTR	NM_032030	NP_114419	Q3KNW7	Q3KNW7_HUMAN	FKSG83	107						integral to membrane	pheromone receptor activity				0						ATGGGACTAACGTGTGTCTTT	0.393													T	27293382	C	T	27293382	2	4	21	1	0	0	0	0	0	0	0	1	5918	535	19	1		1	FKSG83	6	27293382	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1052459	27293382	143821685	214	19949											
OR10C1	442194	broad.mit.edu	37	chr6	29408587	29408587	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcgccctaaggccagctaCgatccggccactgaccctct	8	17	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:29408587C>T	uc011dlp.1	+	1	795	c.795C>T	c.(793-795)TAC>TAT	p.Y265Y	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C,	265	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGGCCAGCTACGATCCGGCCA	0.577													T	29408587	C	T	29408587	2	4	21	1	0	0	0	0	0	0	0	1	10898	547	19	1		1	OR10C1	6	29408587	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	2115205	29408587	141706480	215	19950											
TRIM10	10107	broad.mit.edu	37	chr6	30128498	30128498	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctccaggtctgggcctggTatctcacagtagcgggtaag	13	11	2	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:30128498T>C	uc003npo.3	-	1	214	c.138A>G	c.(136-138)ATA>ATG	p.I46M	TRIM10_uc003npn.2_Missense_Mutation_p.I46M|TRIM15_uc010jrx.2_5'Flank	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	tripartite motif-containing 10 isoform 1	46	RING-type.					cytoplasm	zinc ion binding				0						CTGGGCCTGGTATCTCACAGT	0.617													C	30128498	T	C	30128498	3	2	21	1	0	0	0	0	1	0	0	0	16483	1628	57	3	1423	3	TRIM10	6	30128498	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	719911	30128498	140986569	216	19951											
HLA-B	3106	broad.mit.edu	37	chr6	31322269	31322270	+	Frame_Shift_Del	DEL	GA	GA	-													atctcaccttttcaagctgtGagagacacatcagagccctg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:31322269_31322270delGA	uc003nth.2	-	7	1133_1134	c.1079_1080delTC	c.(1078-1080)CTCfs	p.L360fs	HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_RNA|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Frame_Shift_Del_p.L239fs|HLA-B_uc003nti.1_RNA	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	360	Cytoplasmic (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0						TTCAAGCTGTGAGAGACACATC	0.589									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				-	31322270	GA	-	31322269	7	5	21	1	0	1	0	1	0	0	0	0	7196	1277	45	0	12	0	HLA-B	6	31322269	Frame_Shift_Del	DEL	GA	TCGA-BR-4363-01A-01D-1158-08	1193771	31322269	139792798	217	19952											
GRM4	2914	broad.mit.edu	37	chr6	34029800	34029800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgactgggcgatgcacaCgccccctgcaggaggggcac	14	16	0	0	rs144674222		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:34029800C>T	uc003oir.3	-	3	912	c.742G>A	c.(742-744)GTG>ATG	p.V248M	GRM4_uc011dsn.1_Missense_Mutation_p.V248M|GRM4_uc010jvh.2_Missense_Mutation_p.V248M|GRM4_uc010jvi.2_Translation_Start_Site|GRM4_uc003oio.2_Translation_Start_Site|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.V108M|GRM4_uc003oiq.2_Missense_Mutation_p.V115M|GRM4_uc011dsm.1_Missense_Mutation_p.V79M	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	248	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	GCGATGCACACGCCCCCTGCA	0.642													T	34029800	C	T	34029800	3	4	21	1	0	0	0	0	1	0	0	0	6799	536	19	1	2028	1	GRM4	6	34029800	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	2707531	34029800	137085267	218	19953											
TCP11	6954	broad.mit.edu	37	chr6	35096881	35096882	+	Frame_Shift_Ins	INS	-	-	G													caagagcacagctgaagtcaINSgggggagttgctgatagttg					rs11539274		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:35096881_35096882insG	uc003okd.2	-	4	534_535	c.353_354insC	c.(352-354)CCTfs	p.P118fs	TCP11_uc003ojz.1_Frame_Shift_Ins_p.P43fs|TCP11_uc003oka.2_Frame_Shift_Ins_p.P43fs|TCP11_uc003okb.2_Frame_Shift_Ins_p.P42fs|TCP11_uc003okc.2_Frame_Shift_Ins_p.P42fs|TCP11_uc011dsu.1_Frame_Shift_Ins_p.P100fs|TCP11_uc011dsv.1_Frame_Shift_Ins_p.P67fs|TCP11_uc011dsw.1_Frame_Shift_Ins_p.P72fs	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	t-complex 11 isoform 1	105					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(3)|skin(2)	5						AGCTGAAGTCAGGGGGAGTTGC	0.431													G	35096882	-	G	35096881	7	5	21	1	0	1	1	0	0	0	0	0	15710	175	7	0	1224	0	TCP11	6	35096881	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	1067081	35096881	136018186	219	19954	69	2									
TCP11	6954	broad.mit.edu	37	chr6	35096882	35096883	+	Frame_Shift_Ins	INS	-	-	G													aagagcacagctgaagtcagINSggggagttgctgatagttgc					rs11539274		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:35096881_35096882A>AG	uc003okd.2	-	3	534_535	c.353_354T>CT	c.(352-354)cctfs	p.P118fs	TCP11_uc003ojz.1_Frame_Shift_Ins_p.P43fs|TCP11_uc003oka.2_Frame_Shift_Ins_p.P43fs|TCP11_uc003okb.2_Frame_Shift_Ins_p.P42fs|TCP11_uc011dsu.1_Frame_Shift_Ins_p.P100fs|TCP11_uc003okc.2_Frame_Shift_Ins_p.P42fs|TCP11_uc011dsv.1_Frame_Shift_Ins_p.P67fs|TCP11_uc011dsw.1_Frame_Shift_Ins_p.P72fs	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	105					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						AGCTGAAGTCAGGGGGAGTTGC	0.431													G	35096883	-	G	35096882	7	5	21	1	0	1	1	0	0	0	0	0	15710	1000	35	0	1225	0	TCP11	6	35096882	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	1	35096882	136018185	220	19955	69	2									
TBC1D22B	55633	broad.mit.edu	37	chr6	37250063	37250063	+	Frame_Shift_Del	DEL	C	C	-													ggatcagaacgcttctggggCccccccaatgactgtccggg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:37250063delC	uc003onn.2	+	4	670	c.524delC	c.(523-525)GCCfs	p.A175fs	TBC1D22B_uc010jwt.2_RNA	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	175						intracellular	Rab GTPase activator activity				0			OV - Ovarian serous cystadenocarcinoma(102;0.241)			GCTTCTGGGGCCCCCCCAATG	0.572													-	37250063	C	-	37250063	7	5	21	1	0	1	0	1	0	0	0	0	15609	739	26	0	538	0	TBC1D22B	6	37250063	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	2153181	37250063	133865004	221	19956											
PRICKLE4	29964	broad.mit.edu	37	chr6	41752759	41752759	+	Frame_Shift_Del	DEL	G	G	-													aagcaggaagccctgggacaGggggtagcccgcctggtact							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:41752759delG	uc011duf.1	+	5	575	c.327delG	c.(325-327)CAGfs	p.Q109fs	PRICKLE4_uc003ord.2_RNA|TOMM6_uc003org.2_5'Flank|TOMM6_uc011dug.1_5'Flank	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	over-expressed breast tumor protein	69	PET.					nucleus	zinc ion binding				0	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCCTGGGACAGGGGGTAGCCC	0.612													-	41752759	G	-	41752759	7	5	21	1	0	1	0	1	0	0	0	0	12489	991	35	0	337	0	PRICKLE4	6	41752759	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	4502696	41752759	129362308	222	19957											
TTBK1	84630	broad.mit.edu	37	chr6	43227330	43227330	+	Frame_Shift_Del	DEL	C	C	-													ccccagctccccagtgcgtgCccccccagactcccccacaa							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:43227330delC	uc003ouq.1	+	12	1589	c.1310delC	c.(1309-1311)GCCfs	p.A437fs		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	437						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCAGTGCGTGCCCCCCCAGAC	0.672													-	43227330	C	-	43227330	7	5	21	1	0	1	0	1	0	0	0	0	16673	739	26	0	1352	0	TTBK1	6	43227330	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	1474571	43227330	127887737	223	19958											
C6orf142	90523	broad.mit.edu	37	chr6	54095592	54095592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctgctaagtcactgctGcatccacagaccctctcaca	5	18	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:54095592G>A	uc003pcg.3	+	11	1307	c.1194G>A	c.(1192-1194)CTG>CTA	p.L398L	C6orf142_uc003pch.3_Intron|C6orf142_uc011dxa.1_Silent_p.L933L	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	hypothetical protein LOC90523	398						nuclear envelope|PML body	protein binding				0	Lung NSC(77;0.0317)					AGTCACTGCTGCATCCACAGA	0.512													A	54095592	G	A	54095592	2	1	21	1	0	0	0	0	0	0	0	1	2333	1306	46	2		2	C6orf142	6	54095592	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	10868262	54095592	117019475	224	19959											
COL19A1	1310	broad.mit.edu	37	chr6	70639396	70639396	+	Frame_Shift_Del	DEL	T	T	-													gggagatgtgttgaactacaTttttagaaatcgagaactcc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:70639396delT	uc003pfc.1	+	6	587	c.470delT	c.(469-471)ATTfs	p.I157fs	COL19A1_uc010kam.1_Frame_Shift_Del_p.I53fs	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	157	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						TTGAACTACATTTTTAGAAAT	0.368													-	70639396	T	-	70639396	7	5	21	1	0	1	0	1	0	0	0	0	3676	1493	52	0	488	0	COL19A1	6	70639396	Frame_Shift_Del	DEL	T	TCGA-BR-4363-01A-01D-1158-08	16543804	70639396	100475671	225	19960											
DDX43	55510	broad.mit.edu	37	chr6	74111617	74111617	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctgttggaaaagatggaAgcacagataacaatgttgtt	10	5	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:74111617A>C	uc003pgw.2	+	4	816	c.472A>C	c.(472-474)AGC>CGC	p.S158R	DDX43_uc011dyn.1_RNA	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	158						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						AAAAGATGGAAGCACAGATAA	0.313													C	74111617	A	C	74111617	3	2	21	1	0	0	0	0	1	0	0	0	4363	72	3	5	486	5	DDX43	6	74111617	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	3472221	74111617	97003450	226	19961											
COL12A1	1303	broad.mit.edu	37	chr6	75853001	75853001	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttctggtgttttgtatcgAacaatatatttacgcacttt	6	7	2	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:75853001A>G	uc003phs.2	-	26	4960	c.4794T>C	c.(4792-4794)GTT>GTC	p.V1598V	COL12A1_uc003pht.2_Silent_p.V434V	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1598	Fibronectin type-III 11.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TTTTGTATCGAACAATATATT	0.368													G	75853001	A	G	75853001	2	3	21	1	0	0	0	0	0	0	0	1	3669	233	9	3		3	COL12A1	6	75853001	Silent	SNP	A	TCGA-BR-4363-01A-01D-1158-08	1741384	75853001	95262066	227	19962											
KIAA0776	23376	broad.mit.edu	37	chr6	96986656	96986656	+	Frame_Shift_Del	DEL	C	C	-													aatgactgtacagaactgttCcgtgagctgatgcaccagaa							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:96986656delC	uc003por.2	+	10	1176	c.1128delC	c.(1126-1128)TTCfs	p.F376fs	KIAA0776_uc010kck.2_RNA	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	376					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)		CAGAACTGTTCCGTGAGCTGA	0.373													-	96986656	C	-	96986656	7	5	21	1	0	1	0	1	0	0	0	0	8193	854	30	0	1166	0	KIAA0776	6	96986656	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	21133655	96986656	74128411	228	19963											
MCHR2	84539	broad.mit.edu	37	chr6	100368816	100368816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtgatccatgtactttcCtaaaagtgtgatttcagagt	9	6	1	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:100368816C>T	uc003pqh.1	-	6	1338	c.1023G>A	c.(1021-1023)TAG>TAA	p.*341*	MCHR2_uc003pqi.1_Silent_p.*341*	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	341						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATGTACTTTCCTAAAAGTGTG	0.403													T	100368816	C	T	100368816	2	4	21	1	0	0	0	0	0	0	0	1	9383	692	24	4		4	MCHR2	6	100368816	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	3382160	100368816	70746251	229	19964											
PREP	5550	broad.mit.edu	37	chr6	105825262	105825262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtaaaagcagtctcaccGttttcctttcttgaagtggc	8	10	3	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:105825262G>A	uc003prc.2	-	3	456	c.253C>T	c.(253-255)CGG>TGG	p.R85W		NM_002726	NP_002717	P48147	PPCE_HUMAN	prolyl endopeptidase	85					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CAGTCTCACCGTTTTCCTTTC	0.328													A	105825262	G	A	105825262	3	1	21	1	0	0	0	0	1	0	0	0	12474	1159	40	1	1931	1	PREP	6	105825262	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	5456446	105825262	65289805	230	19965											
SOBP	55084	broad.mit.edu	37	chr6	107956521	107956521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggatgctgcccaagaccGgctgcgtgatccagcctgtg	14	13	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:107956521G>A	uc003prx.2	+	6	2977	c.2473G>A	c.(2473-2475)GGC>AGC	p.G825S		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	825							metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GCCCAAGACCGGCTGCGTGAT	0.662													A	107956521	G	A	107956521	3	1	21	1	0	0	0	0	1	0	0	0	14912	1116	39	1	2495	1	SOBP	6	107956521	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	2131259	107956521	63158546	231	19966											
FYN	2534	broad.mit.edu	37	chr6	111995792	111995792	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattgtgaacctcccgtacaGggctgcctcgggggccgtcc	14	14	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:111995792G>T	uc003pvj.2	-	12	1655	c.1315C>A	c.(1315-1317)CTG>ATG	p.L439M	FYN_uc003pvi.2_Missense_Mutation_p.L384M|FYN_uc003pvk.2_Missense_Mutation_p.L439M|FYN_uc003pvh.2_Missense_Mutation_p.L436M	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	439	Protein kinase.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|central_nervous_system(1)|skin(1)	7		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	CTCCCGTACAGGGCTGCCTCG	0.537													T	111995792	G	T	111995792	3	4	21	1	0	0	0	0	1	0	0	0	6126	991	35	5	306	5	FYN	6	111995792	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	4039271	111995792	59119275	232	19967											
HS3ST5	222537	broad.mit.edu	37	chr6	114378456	114378456	+	Frame_Shift_Del	DEL	A	A	-													tgtcctcccagtgatctggtAaaatttttgattaaaaggat							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:114378456delA	uc003pwg.3	-	2	1038	c.1006delT	c.(1006-1008)TACfs	p.Y336fs	uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Frame_Shift_Del_p.Y336fs	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine)	336	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			ovary(1)|pancreas(1)	2		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GTGATCTGGTAAAATTTTTGA	0.428													-	114378456	A	-	114378456	7	5	21	1	0	1	0	1	0	0	0	0	7368	362	13	0	38	0	HS3ST5	6	114378456	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	2382664	114378456	56736611	233	19968											
RSPH4A	345895	broad.mit.edu	37	chr6	116949263	116949263	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagaaatttttcactgggCgattggatgctcccatcata	8	9	3	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:116949263C>T	uc003pxe.2	+	3	1538	c.1393C>T	c.(1393-1395)CGA>TGA	p.R465*	RSPH4A_uc010kee.2_Nonsense_Mutation_p.R465*	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A isoform 1	465					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke					0						TTTCACTGGGCGATTGGATGC	0.418									Kartagener_syndrome				T	116949263	C	T	116949263	4	4	21	1	0	0	0	0	0	1	0	0	13706	760	27	1	1403	1	RSPH4A	6	116949263	Nonsense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	2570807	116949263	54165804	234	19969											
FAM184A	79632	broad.mit.edu	37	chr6	119345681	119345681	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcgacttctctagacatggTcactatgcgttggacatgct	9	10	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:119345681T>C	uc003pyj.2	-	2	805	c.457A>G	c.(457-459)ACC>GCC	p.T153A	FAM184A_uc003pyk.3_Missense_Mutation_p.T33A|FAM184A_uc003pyl.3_Missense_Mutation_p.T33A	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	153	Potential.									ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						CTAGACATGGTCACTATGCGT	0.403													C	119345681	T	C	119345681	3	2	21	1	0	0	0	0	1	0	0	0	5511	1667	58	3	3033	3	FAM184A	6	119345681	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	2396418	119345681	51769386	235	19970											
GJA1	2697	broad.mit.edu	37	chr6	121768435	121768435	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatggtaaggtgaaaatgCgaggggggttgctgcgaacc	17	6	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:121768435C>T	uc003pyr.2	+	2	692	c.442C>T	c.(442-444)CGA>TGA	p.R148*	GJA1_uc011ebo.1_Nonsense_Mutation_p.R49*|GJA1_uc011ebp.1_Intron	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	148	Cytoplasmic (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GGTGAAAATGCGAGGGGGGTT	0.453													T	121768435	C	T	121768435	4	4	21	1	0	0	0	0	0	1	0	0	6400	760	27	1	444	1	GJA1	6	121768435	Nonsense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	2422754	121768435	49346632	236	19971											
MED23	9439	broad.mit.edu	37	chr6	131914220	131914222	+	In_Frame_Del	DEL	AGT	AGT	-													aaggccatgagctccacacaAgtaacatggagagcatgggc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:131914219_131914221AAGT>A	uc003qcs.1	-	23	3497_3499	c.3323_3325ACTT>T	c.(3322-3327)acttgt>aTgt	p.1108_1109TC>M	MED23_uc003qcq.3_In_Frame_Del_p.1114_1115TC>M|MED23_uc003qcr.1_5'UTR	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	1108					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.T1108T(2)|p.T1114T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AGCTCCACACAAGTAACATGGAG	0.478													-	131914222	AGT	-	131914220	7	5	21	1	0	1	0	1	0	0	0	0	9441	59	3	0	813	0	MED23	6	131914220	In_Frame_Del	DEL	AGT	TCGA-BR-4363-01A-01D-1158-08	10145785	131914220	39200847	237	19972											
ENPP1	5167	broad.mit.edu	37	chr6	132185669	132185669	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtaccatttgaagaaaggaTtttagctgttcttcagtggc	10	6	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:132185669T>G	uc011ecf.1	+	10	1069	c.1049T>G	c.(1048-1050)ATT>AGT	p.I350S	ENPP1_uc003qcy.2_5'UTR	NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	350	Phosphodiesterase.|Extracellular (Potential).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GAAGAAAGGATTTTAGCTGTT	0.294													G	132185669	T	G	132185669	3	3	21	1	0	0	0	0	1	0	0	0	5129	1493	52	5	1087	5	ENPP1	6	132185669	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	271449	132185669	38929398	238	19973											
TAAR1	134864	broad.mit.edu	37	chr6	132966641	132966641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtaatatatctcttcagCgcctttgaagtttagctcca	6	9	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:132966641C>T	uc003qdm.1	-	1	502	c.502G>A	c.(502-504)GCT>ACT	p.A168T		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	168	Extracellular (Potential).					plasma membrane					0	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	ATCTCTTCAGCGCCTTTGAAG	0.373													T	132966641	C	T	132966641	3	4	21	1	0	0	0	0	1	0	0	0	15486	768	27	1	521	1	TAAR1	6	132966641	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	780972	132966641	38148426	239	19974											
GRM1	2911	broad.mit.edu	37	chr6	146673425	146673425	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaactatgtccaggacagtaAgatggggtttgtcatcaatg	11	6	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:146673425A>T	uc010khw.1	+	5	1696	c.1226A>T	c.(1225-1227)AAG>ATG	p.K409M	GRM1_uc010khv.1_Missense_Mutation_p.K409M|GRM1_uc003qll.2_Missense_Mutation_p.K409M|GRM1_uc011edz.1_Missense_Mutation_p.K409M|GRM1_uc011eea.1_Missense_Mutation_p.K409M	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	409	Extracellular (Potential).	Glutamate (By similarity).			synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CAGGACAGTAAGATGGGGTTT	0.483													T	146673425	A	T	146673425	3	4	21	1	0	0	0	0	1	0	0	0	6796	72	3	5	1240	5	GRM1	6	146673425	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	13706784	146673425	24441642	240	19975											
SYNE1	23345	broad.mit.edu	37	chr6	152740715	152740715	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccactttaccttatgccgagTaagggctacttgatggtcca	9	11	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:152740715T>A	uc010kiw.2	-	40	6012	c.5410A>T	c.(5410-5412)ACT>TCT	p.T1804S	SYNE1_uc003qot.3_Missense_Mutation_p.T1811S|SYNE1_uc003qou.3_Missense_Mutation_p.T1804S|SYNE1_uc010kjb.1_Missense_Mutation_p.T1787S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1804	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)		TTATGCCGAGTAAGGGCTACT	0.318										HNSCC(10;0.0054)			A	152740715	T	A	152740715	3	1	21	1	0	0	0	0	1	0	0	0	15442	1638	57	5	21484	5	SYNE1	6	152740715	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	6067290	152740715	18374352	241	19976											
SYNE1	23345	broad.mit.edu	37	chr6	152740727	152740727	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgccgagtaagggctacttGatggtccattatgctaatct	10	8	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:152740727G>A	uc010kiw.2	-	40	6000	c.5398C>T	c.(5398-5400)CAA>TAA	p.Q1800*	SYNE1_uc003qot.3_Nonsense_Mutation_p.Q1807*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q1800*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.Q1783*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1800	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)		AGGGCTACTTGATGGTCCATT	0.338										HNSCC(10;0.0054)			A	152740727	G	A	152740727	4	1	21	1	0	0	0	0	0	1	0	0	15442	1299	45	4	21496	4	SYNE1	6	152740727	Nonsense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	12	152740727	18374340	242	19977											
ARID1B	57492	broad.mit.edu	37	chr6	157522190	157522190	+	Frame_Shift_Del	DEL	C	C	-													ctggcggccctacacaggcgCccccttacccaggcatgaac							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:157522189_157522189GC>G	uc003qqp.3	+	16	4422	c.4422_4422GC>G	c.(4420-4422)gcgfs	p.A1474fs	ARID1B_uc003qqo.3_Frame_Shift_Del_p.A1487fs|ARID1B_uc003qqn.3_Frame_Shift_Del_p.A1527fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1474	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTACACAGGCGCCCCCTTACC	0.587													-	157522190	C	-	157522190	7	5	21	1	0	1	0	1	0	0	0	0	914	739	26	0	4532	0	ARID1B	6	157522190	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	4781463	157522190	13592877	243	19978											
SNX9	51429	broad.mit.edu	37	chr6	158349639	158349639	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcacccacagagagcagaAgtgcgaggctgtggggaagt	15	9	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:158349639A>C	uc003qqv.1	+	12	1366	c.1193A>C	c.(1192-1194)AAG>ACG	p.K398T		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	398	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AGAGAGCAGAAGTGCGAGGCT	0.582													C	158349639	A	C	158349639	3	2	21	1	0	0	0	0	1	0	0	0	14909	72	3	5	1239	5	SNX9	6	158349639	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	827449	158349639	12765428	244	19979											
UNC93A	54346	broad.mit.edu	37	chr6	167721271	167721271	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctctgcacccccaggcgcGgtgacccacgtgtcctgcat	10	19	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:167721271G>A	uc003qvq.2	+	7	1156	c.981G>A	c.(979-981)GCG>GCA	p.A327A	UNC93A_uc003qvr.2_Silent_p.A285A	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	327	Helical; (Potential).					integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCCCAGGCGCGGTGACCCACG	0.627													A	167721271	G	A	167721271	2	1	21	1	0	0	0	0	0	0	0	1	16993	1103	39	1		1	UNC93A	6	167721271	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	9371632	167721271	3393796	245	19980											
MLLT4	4301	broad.mit.edu	37	chr6	168294542	168294542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatgtgtcttaaccccagGgagaaggaatcactttgcct	11	10	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:168294542G>A	uc003qwd.2	+	9	1317	c.1175G>A	c.(1174-1176)GGG>GAG	p.G392E	MLLT4_uc003qwb.1_Intron|MLLT4_uc003qwc.1_Missense_Mutation_p.G393E|MLLT4_uc003qwf.2_Intron	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	393					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTAACCCCAGGGAGAAGGAAT	0.473			T	MLL	AL								A	168294542	G	A	168294542	3	1	21	1	0	0	0	0	1	0	0	0	9629	1246	43	4	1212	4	MLLT4	6	168294542	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	573271	168294542	2820525	246	19981											
USP42	84132	broad.mit.edu	37	chr7	6196693	6196693	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagtatggccagggtaagaGgagatacttggaattaggaa	15	3	0	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:6196693G>T	uc011jwo.1	+	16	4073	c.3950G>T	c.(3949-3951)AGG>ATG	p.R1317M	USP42_uc011jwp.1_Intron|USP42_uc011jwq.1_Intron	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	1317					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CAGGGTAAGAGGAGATACTTG	0.433													T	6196693	G	T	6196693	3	4	21	1	0	0	0	0	1	0	0	0	17070	1015	35	5		5	USP42	7	6196693	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08		6196693	152941970	247	19982											
DNAH11	8701	broad.mit.edu	37	chr7	21939646	21939646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtggcccctggataaaaCgcgcttgactgctgatgtta	12	9	0	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:21939646C>T	uc003svc.2	+	82	13263	c.13232C>T	c.(13231-13233)ACG>ATG	p.T4411M		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4411					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CTGGATAAAACGCGCTTGACT	0.428									Kartagener_syndrome				T	21939646	C	T	21939646	3	4	21	1	0	0	0	0	1	0	0	0	4599	536	19	1	13555	1	DNAH11	7	21939646	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	15742953	21939646	137199017	248	19983											
PLEKHA8	84725	broad.mit.edu	37	chr7	30088859	30088859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggaattgatgtgggaaCtttgctgaaatcaacctgta	13	5	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:30088859C>T	uc003tam.1	+	5	549	c.458C>T	c.(457-459)ACT>ATT	p.T153I	PLEKHA8_uc003tao.2_Missense_Mutation_p.T37I|PLEKHA8_uc003tap.1_Missense_Mutation_p.T153I|PLEKHA8_uc003tan.2_Missense_Mutation_p.T153I	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A	153					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(3)|ovary(1)	4						GATGTGGGAACTTTGCTGAAA	0.453													T	30088859	C	T	30088859	3	4	21	1	0	0	0	0	1	0	0	0	12062	565	20	4	476	4	PLEKHA8	7	30088859	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	8149213	30088859	129049804	249	19984											
SFRP4	6424	broad.mit.edu	37	chr7	37956066	37956066	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acatagggatgcgcaccgccTcgcagggcgcgccgcgcacg	15	16	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:37956066T>A	uc003tfo.3	-	1	460	c.74A>T	c.(73-75)GAG>GTG	p.E25V		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	25	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(1)	1						GCGCACCGCCTCGCAGGGCGC	0.687													A	37956066	T	A	37956066	3	1	21	1	0	0	0	0	1	0	0	0	14163	1551	54	5	990	5	SFRP4	7	37956066	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	7867207	37956066	121182597	250	19985											
HECW1	23072	broad.mit.edu	37	chr7	43532713	43532713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagattgtggcatttcttcGccagccaaacatttttgaaa	7	9	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:43532713G>A	uc003tid.1	+	19	3976	c.3371G>A	c.(3370-3372)CGC>CAC	p.R1124H	HECW1_uc011kbi.1_Missense_Mutation_p.R1090H	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1124					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.R1103H(1)		ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GCATTTCTTCGCCAGCCAAAC	0.463													A	43532713	G	A	43532713	3	1	21	1	0	0	0	0	1	0	0	0	7042	1087	38	1	3437	1	HECW1	7	43532713	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	5576647	43532713	115605950	251	19986											
STK17A	9263	broad.mit.edu	37	chr7	43664348	43664348	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctaggacaatgcagacagtcTgaaaaagagaaaatggagca	11	6	1	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:43664348T>A	uc003tih.2	+	7	1303	c.1152T>A	c.(1150-1152)TCT>TCA	p.S384S	C7orf44_uc003til.2_Intron|C7orf44_uc003tii.2_Intron|C7orf44_uc003tij.2_Intron|C7orf44_uc010kxu.1_Intron|C7orf44_uc003tik.2_Intron	NM_004760	NP_004751	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	384					apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			skin(2)	2						GCAGACAGTCTGAAAAAGAGA	0.348													A	43664348	T	A	43664348	2	1	21	1	0	0	0	0	0	0	0	1	15289	1567	55	5		5	STK17A	7	43664348	Silent	SNP	T	TCGA-BR-4363-01A-01D-1158-08	131635	43664348	115474315	252	19987											
TNS3	64759	broad.mit.edu	37	chr7	47408673	47408673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaacgttgctgccaaaacCgtcagataggagtgagttct	10	10	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:47408673C>T	uc003tnv.2	-	17	1937	c.1570G>A	c.(1570-1572)GGT>AGT	p.G524S	TNS3_uc003tnw.2_Missense_Mutation_p.G524S	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	524						focal adhesion	protein binding			ovary(4)	4						CTGCCAAAACCGTCAGATAGG	0.632													T	47408673	C	T	47408673	3	4	21	1	0	0	0	0	1	0	0	0	16341	652	23	1	2827	1	TNS3	7	47408673	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	3744325	47408673	111729990	253	19988											
COBL	23242	broad.mit.edu	37	chr7	51287562	51287562	+	Frame_Shift_Del	DEL	G	G	-													cgacccgagggccccatcgtGggggggcttctggtcactgt							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:51287561_51287561TG>T	uc003tps.3	-	1	307	c.122_122CA>A	c.(121-123)cacfs	p.H41fs	COBL_uc003tpr.4_Frame_Shift_Del_p.H41fs|COBL_uc011kcl.2_Frame_Shift_Del_p.H41fs|COBL_uc010kzc.3_Frame_Shift_Del_p.H41fs|COBL_uc003tpt.3_Frame_Shift_Del_p.H41fs	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	41										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGCCCCATCGTGGGGGGGCTT	0.602													-	51287562	G	-	51287562	7	5	21	1	0	1	0	1	0	0	0	0	3653	1348	47	0	3712	0	COBL	7	51287562	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	3878889	51287562	107851101	254	19989											
POM121L12	285877	broad.mit.edu	37	chr7	53104085	53104085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctctgaagccgagcctcGgcccctggagcctcagtttt	12	15	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:53104085G>A	uc003tpz.2	+	1	737	c.721G>A	c.(721-723)GGC>AGC	p.G241S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	241											0						GCCGAGCCTCGGCCCCTGGAG	0.647													A	53104085	G	A	53104085	3	1	21	1	0	0	0	0	1	0	0	0	12241	1116	39	1	723	1	POM121L12	7	53104085	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1816523	53104085	106034578	255	19990											
TYW1	55253	broad.mit.edu	37	chr7	66648139	66648139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaactgtctacagactgacGctcgtgaaagcatggaacgt	11	10	1	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:66648139G>A	uc003tvn.2	+	14	1874	c.1725G>A	c.(1723-1725)ACG>ACA	p.T575T	TYW1_uc010lai.2_RNA|TYW1_uc011kef.1_Silent_p.T189T	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	radical S-adenosyl methionine and flavodoxin	575					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			skin(1)	1		Lung NSC(55;0.0846)|all_lung(88;0.183)				ACAGACTGACGCTCGTGAAAG	0.517													A	66648139	G	A	66648139	2	1	21	1	0	0	0	0	0	0	0	1	16815	1074	38	1		1	TYW1	7	66648139	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	13544054	66648139	92490524	256	19991											
WBSCR28	135886	broad.mit.edu	37	chr7	73279550	73279550	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacccaggctgatgtgggcTggcatgtggggcagcaccaa	17	10	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:73279550T>C	uc003tzk.2	+	2	336	c.300T>C	c.(298-300)GCT>GCC	p.A100A	RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_5'UTR	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	hypothetical protein LOC135886	100						integral to membrane				breast(1)	1		Lung NSC(55;0.159)				TGATGTGGGCTGGCATGTGGG	0.647													C	73279550	T	C	73279550	2	2	21	1	0	0	0	0	0	0	0	1	17264	1567	55	3		3	WBSCR28	7	73279550	Silent	SNP	T	TCGA-BR-4363-01A-01D-1158-08	6631411	73279550	85859113	257	19992											
ABCB4	5244	broad.mit.edu	37	chr7	87032452	87032452	+	Frame_Shift_Del	DEL	T	T	-													gttgggaggccacacacaccTtttcactttcagtatccaga							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:87032452delT	uc003uiv.1	-	27	3729	c.3653delA	c.(3652-3654)AAGfs	p.K1218fs	ABCB4_uc003uiw.1_Frame_Shift_Del_p.K1211fs|ABCB4_uc003uix.1_Frame_Shift_Del_p.K1164fs	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	1218	ABC transporter 2.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CACACACACCTTTTCACTTTC	0.423													-	87032452	T	-	87032452	7	5	21	1	0	1	0	1	0	0	0	0	43	1623	56	0	215	0	ABCB4	7	87032452	Frame_Shift_Del	DEL	T	TCGA-BR-4363-01A-01D-1158-08	13752902	87032452	72106211	258	19993											
TRRAP	8295	broad.mit.edu	37	chr7	98581951	98581951	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgctacctccagctggcAggcgtcatgggcaaaaacga	11	11	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:98581951A>G	uc003upp.2	+	60	9479	c.9270A>G	c.(9268-9270)GCA>GCG	p.A3090A	TRRAP_uc011kis.1_Silent_p.A3061A|TRRAP_uc003upr.2_Silent_p.A2778A	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3090	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCAGCTGGCAGGCGTCATGG	0.493													G	98581951	A	G	98581951	2	3	21	1	0	0	0	0	0	0	0	1	16598	175	7	3		3	TRRAP	7	98581951	Silent	SNP	A	TCGA-BR-4363-01A-01D-1158-08	11549499	98581951	60556712	259	19994											
MEPCE	56257	broad.mit.edu	37	chr7	100028448	100028448	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagacaccggggacagcaCcaccagcagcagcaggcagc	12	15	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:100028448C>T	uc003uuw.2	+	1	920	c.807C>T	c.(805-807)CAC>CAT	p.H269H	ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	bin3, bicoid-interacting 3	269							methyltransferase activity			upper_aerodigestive_tract(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGGACAGCACCACCAGCAGC	0.637													T	100028448	C	T	100028448	2	4	21	1	0	0	0	0	0	0	0	1	9477	506	18	4		4	MEPCE	7	100028448	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1446497	100028448	59110215	260	19995											
GIGYF1	64599	broad.mit.edu	37	chr7	100281778	100281778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgcactgtgggagctggCggctgcaaatgggacagtgg	19	9	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:100281778C>T	uc003uwg.1	-	15	2742	c.1733G>A	c.(1732-1734)CGC>CAC	p.R578H		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	578	Gln-rich.									large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGGGAGCTGGCGGCTGCAAAT	0.687													T	100281778	C	T	100281778	3	4	21	1	0	0	0	0	1	0	0	0	6377	768	27	1	1414	1	GIGYF1	7	100281778	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	253330	100281778	58856885	261	19996											
SLC12A9	56996	broad.mit.edu	37	chr7	100463572	100463572	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcaagatgaacaagaatgTggtgctggcccgggccagcg	14	11	1	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:100463572T>C	uc003uwp.2	+	14	2232	c.2090T>C	c.(2089-2091)GTG>GCG	p.V697A	SLC12A9_uc011kki.1_Missense_Mutation_p.V228A|SLC12A9_uc003uwr.2_Missense_Mutation_p.V433A|SLC12A9_uc003uws.2_Missense_Mutation_p.V228A|SLC12A9_uc003uwt.2_Missense_Mutation_p.V433A|SLC12A9_uc003uwv.2_Missense_Mutation_p.V228A|TRIP6_uc010lhk.1_5'Flank|TRIP6_uc003uww.2_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	697	Extracellular (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					AACAAGAATGTGGTGCTGGCC	0.697													C	100463572	T	C	100463572	3	2	21	1	0	0	0	0	1	0	0	0	14390	1696	59	3	2140	3	SLC12A9	7	100463572	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	181794	100463572	58675091	262	19997											
ORC5L	5001	broad.mit.edu	37	chr7	103844608	103844608	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctctaaagttttcaacaaCgtttgtgttacataggtctt	6	8	3	0	rs142978774		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:103844608C>T	uc003vcb.2	-	2	258	c.147G>A	c.(145-147)ACG>ACA	p.T49T	ORC5L_uc011klp.1_5'UTR|ORC5L_uc003vcc.2_Silent_p.T49T|ORC5L_uc003vcd.2_Silent_p.T49T	NM_002553	NP_002544	O43913	ORC5_HUMAN	origin recognition complex subunit 5 isoform 1	49					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding				0						TTTTCAACAACGTTTGTGTTA	0.303													T	103844608	C	T	103844608	2	4	21	1	0	0	0	0	0	0	0	1	11265	523	19	1		1	ORC5L	7	103844608	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	3381036	103844608	55294055	263	19998											
NAMPT	10135	broad.mit.edu	37	chr7	105891627	105891627	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgccattcttgaagacagTatggagaagatcctgcataa	9	8	1	4			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:105891627T>C	uc003vdq.2	-	11	1686	c.1378A>G	c.(1378-1380)ACT>GCT	p.T460A		NM_005746	NP_005737	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	460					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			large_intestine(1)	1						TTGAAGACAGTATGGAGAAGA	0.343													C	105891627	T	C	105891627	3	2	21	1	0	0	0	0	1	0	0	0	10149	1638	57	3	101	3	NAMPT	7	105891627	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	2047019	105891627	53247036	264	19999											
RBM28	55131	broad.mit.edu	37	chr7	127953322	127953322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcactttgcctttgtccCgcaacctgaaataacatggc	7	13	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:127953322C>T	uc003vmp.2	-	18	2166	c.2051G>A	c.(2050-2052)CGG>CAG	p.R684Q	RBM28_uc003vmo.2_Missense_Mutation_p.R226Q|RBM28_uc011koj.1_Missense_Mutation_p.R543Q	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	684					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			ovary(2)	2						GCCTTTGTCCCGCAACCTGAA	0.493													T	127953322	C	T	127953322	3	4	21	1	0	0	0	0	1	0	0	0	13128	652	23	1	236	1	RBM28	7	127953322	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	22061695	127953322	31185341	265	20000											
ZYX	7791	broad.mit.edu	37	chr7	143079975	143079975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgcagccgggggcacaGcacccctgcctccttggaag	13	16	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:143079975G>A	uc003wcw.2	+	5	738	c.583G>A	c.(583-585)GCA>ACA	p.A195T	ZYX_uc011ktd.1_Missense_Mutation_p.A38T|ZYX_uc003wcx.2_Missense_Mutation_p.A195T|ZYX_uc011kte.1_Missense_Mutation_p.A164T|ZYX_uc011ktf.1_Missense_Mutation_p.A38T	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN	zyxin	195					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding				0	Melanoma(164;0.205)					CGGGGGCACAGCACCCCTGCC	0.592													A	143079975	G	A	143079975	3	1	21	1	0	0	0	0	1	0	0	0	18251	971	34	2	597	2	ZYX	7	143079975	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	15126653	143079975	16058688	266	20001											
EPHA1	2041	broad.mit.edu	37	chr7	143091370	143091370	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaaagctccacacatcgcTggctgtggtgaagatccgat	10	13	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:143091370T>C	uc003wcz.2	-	15	2506	c.2419A>G	c.(2419-2421)AGC>GGC	p.S807G		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	807	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CACACATCGCTGGCTGTGGTG	0.537													C	143091370	T	C	143091370	3	2	21	1	0	0	0	0	1	0	0	0	5165	1580	55	3	527	3	EPHA1	7	143091370	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	11395	143091370	16047293	267	20002											
OR2F1	26211	broad.mit.edu	37	chr7	143658000	143658000	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaattctctgggttaacaTcaaagctggcaacttgactc	9	9	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:143658000T>C	uc003wds.1	+	1	981	c.937T>C	c.(937-939)TCA>CCA	p.S313P		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F,	313	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	Melanoma(164;0.0903)					TGGGTTAACATCAAAGCTGGC	0.438													C	143658000	T	C	143658000	3	2	21	1	0	0	0	0	1	0	0	0	10996	1435	50	3	939	3	OR2F1	7	143658000	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	566630	143658000	15480663	268	20003											
ZNF862	643641	broad.mit.edu	37	chr7	149544928	149544928	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcctacctttcccacctcAgtacaggcagtggacacatc	7	15	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:149544928A>G	uc010lpn.2	+	4	538	c.346A>G	c.(346-348)AGT>GGT	p.S116G	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						TTCCCACCTCAGTACAGGCAG	0.557													G	149544928	A	G	149544928	3	3	21	1	0	0	0	0	1	0	0	0	18192	188	7	3	360	3	ZNF862	7	149544928	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	5886928	149544928	9593735	269	20004											
ZNF775	285971	broad.mit.edu	37	chr7	150094965	150094965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgctcaccatccaccagCgcatccacacgggtgagcgg	12	17	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:150094965C>T	uc003whf.1	+	3	1521	c.1396C>T	c.(1396-1398)CGC>TGC	p.R466C	LOC728743_uc003whg.2_5'Flank	NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	zinc finger protein 775	466	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCCACCAGCGCATCCACAC	0.701													T	150094965	C	T	150094965	3	4	21	1	0	0	0	0	1	0	0	0	18145	768	27	1	1402	1	ZNF775	7	150094965	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	550037	150094965	9043698	270	20005											
SMARCD3	6604	broad.mit.edu	37	chr7	150937306	150937306	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtcaatgtcatagcacgcCgtcttcttctggtctgaagg	10	11	6	1	rs1050109		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:150937306C>T	uc003wjs.2	-	10	1166	c.1065G>A	c.(1063-1065)ACG>ACA	p.T355T	SMARCD3_uc003wjt.2_Silent_p.T342T|SMARCD3_uc003wju.2_Silent_p.T342T	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin	355					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATAGCACGCCGTCTTCTTCT	0.622													T	150937306	C	T	150937306	2	4	21	1	0	0	0	0	0	0	0	1	14779	639	23	1		1	SMARCD3	7	150937306	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	842341	150937306	8201357	271	20006											
MLL3	58508	broad.mit.edu	37	chr7	151845524	151845524	+	Frame_Shift_Del	DEL	A	A	-													caaagcatagttttgtccttAaaaaacatgcattgtgcttt							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:151845523_151845523TA>T	uc003wla.3	-	51	13708	c.13489_13489TA>A	c.(13489-13491)aagfs	p.K4497fs	MLL3_uc003wkz.3_Frame_Shift_Del_p.K3615fs|MLL3_uc003wkx.3_Frame_Shift_Del_p.K655fs|MLL3_uc003wky.3_Frame_Shift_Del_p.K2061fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4497					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.M4551fs*17(1)|p.M4494fs*17(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTTTTGTCCTTAAAAAACATG	0.433			N		medulloblastoma								-	151845524	A	-	151845524	7	5	21	1	0	1	0	1	0	0	0	0	9622	359	13	0	1279	0	MLL3	7	151845524	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	908218	151845524	7293139	272	20007											
NOM1	64434	broad.mit.edu	37	chr7	156762298	156762298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacttcttgctaaagaaCgcacaggcccacagaagcgc	9	14	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:156762298C>T	uc003wmy.2	+	11	2499	c.2484C>T	c.(2482-2484)AAC>AAT	p.N828N		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	828					RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGCTAAAGAACGCACAGGCCC	0.488													T	156762298	C	T	156762298	2	4	21	1	0	0	0	0	0	0	0	1	10530	535	19	1		1	NOM1	7	156762298	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	4916774	156762298	2376365	273	20008											
SGK223	157285	broad.mit.edu	37	chr8	8176270	8176270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgatgatgagccggggCagctgcttctcccggggccc	15	13	1	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:8176270C>T	uc003wsh.3	-	5	3615	c.3615G>A	c.(3613-3615)CTG>CTA	p.L1205L		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	1205	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity				0						TGAGCCGGGGCAGCTGCTTCT	0.692													T	8176270	C	T	8176270	2	4	21	1	0	0	0	0	0	0	0	1	14210	697	25	2		2	SGK223	8	8176270	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08		8176270	138187752	274	20009											
FAM167A	83648	broad.mit.edu	37	chr8	11282089	11282089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttcagcttgttgatgtcGccacgcaggcgcatgagctg	12	10	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:11282089G>A	uc010lry.1	-	3	1058	c.438C>T	c.(436-438)GGC>GGT	p.G146G	C8orf12_uc003wtu.2_Intron|C8orf12_uc003wtv.2_Intron|FAM167A_uc003wtw.2_Silent_p.G146G	NM_053279	NP_444509	Q96KS9	F167A_HUMAN	hypothetical protein LOC83648	146	Potential.										0						TGTTGATGTCGCCACGCAGGC	0.632													A	11282089	G	A	11282089	2	1	21	1	0	0	0	0	0	0	0	1	5483	1074	38	1		1	FAM167A	8	11282089	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	3105819	11282089	135081933	275	20010											
VPS37A	137492	broad.mit.edu	37	chr8	17125856	17125856	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatggataaacaaggagtgtAtgttacctctccattagtaa	8	6	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:17125856A>G	uc003wxj.2	+	3	643	c.290A>G	c.(289-291)TAT>TGT	p.Y97C	VPS37A_uc003wxk.2_Missense_Mutation_p.Y72C	NM_152415	NP_689628	Q8NEZ2	VP37A_HUMAN	hepatocellular carcinoma related protein 1	97					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus					0				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		CAAGGAGTGTATGTTACCTCT	0.333													G	17125856	A	G	17125856	3	3	21	1	0	0	0	0	1	0	0	0	17202	449	16	3	300	3	VPS37A	8	17125856	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	5843767	17125856	129238166	276	20011											
SLC18A1	6570	broad.mit.edu	37	chr8	20008200	20008200	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccatcttgttggccaacacAccaaagaggttggtgccaat	9	12	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:20008200A>G	uc011kyq.1	-	12	1542	c.1071T>C	c.(1069-1071)GGT>GGC	p.G357G	SLC18A1_uc003wzl.2_Silent_p.G144G|SLC18A1_uc003wzm.2_Silent_p.G357G|SLC18A1_uc011kyr.1_Silent_p.G357G|SLC18A1_uc003wzn.2_Silent_p.G325G|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Silent_p.G325G	NM_001135691	NP_001129163	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine),	357	Helical; (Potential).				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			ovary(2)	2				Colorectal(74;0.0747)		TGGCCAACACACCAAAGAGGT	0.498													G	20008200	A	G	20008200	2	3	21	1	0	0	0	0	0	0	0	1	14425	146	6	3		3	SLC18A1	8	20008200	Silent	SNP	A	TCGA-BR-4363-01A-01D-1158-08	2882344	20008200	126355822	277	20012											
LZTS1	11178	broad.mit.edu	37	chr8	20110677	20110677	+	Frame_Shift_Del	DEL	G	G	-													ctgcactcgtccgtggagatGggggagcggacacacgaggg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:20110676_20110676TG>T	uc003wzr.3	-	1	877	c.766_766CA>A	c.(766-768)atcfs	p.I256fs	LZTS1_uc010ltg.2_Frame_Shift_Del_p.I256fs	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 1 (LZTS1), mRNA.	256					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	Golgi apparatus|cell junction|dendritic spine|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCCGTGGAGATGGGGGAGCGG	0.617													-	20110677	G	-	20110677	7	5	21	1	0	1	0	1	0	0	0	0	9138	1335	47	0	1033	0	LZTS1	8	20110677	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	102477	20110677	126253345	278	20013											
DOCK5	80005	broad.mit.edu	37	chr8	25199933	25199933	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgtgctcttctgcaaaTtcattcaaagcattcctgac	6	13	4	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:25199933T>G	uc003xeg.2	+	25	2664	c.2527T>G	c.(2527-2529)TTC>GTC	p.F843V	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.F557V|DOCK5_uc003xei.2_Missense_Mutation_p.F413V|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	843						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CTTCTGCAAATTCATTCAAAG	0.448													G	25199933	T	G	25199933	3	3	21	1	0	0	0	0	1	0	0	0	4690	1493	52	5	2625	5	DOCK5	8	25199933	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	5089256	25199933	121164089	279	20014											
KCTD9	54793	broad.mit.edu	37	chr8	25293788	25293788	+	Frame_Shift_Del	DEL	A	A	-													acttggttggagttgctagcAaaaatcggacaaattccttt							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:25293787_25293787CA>C	uc003xeo.3	-	7	849	c.627_627TG>G	c.(625-627)ttgfs	p.L209fs	DOCK5_uc003xek.3_Intron|KCTD9_uc011lad.2_5'Flank	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 9 (KCTD9), mRNA.	209						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		GAGTTGCTAGCAAAAATCGGA	0.363													-	25293788	A	-	25293788	7	5	21	1	0	1	0	1	0	0	0	0	8116	131	5	0	563	0	KCTD9	8	25293788	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	93855	25293788	121070234	280	20015											
POLB	5423	broad.mit.edu	37	chr8	42213041	42213041	+	Frame_Shift_Del	DEL	A	A	-													atcttctatacagatctcagAaaaaatgaagataaattgaa							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:42213040_42213040GA>G	uc003xoz.2	+	6	547	c.377_377GA>G	c.(376-378)agafs	p.R126fs	POLB_uc011lcs.2_5'UTR	NM_002690	NP_002681	P06746	DPOLB_HUMAN	Homo sapiens polymerase (DNA directed), beta (POLB), mRNA.	126					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding	p.L125F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	ACAGATCTCAGAAAAAATGAA	0.303								DNA polymerases (catalytic subunits)					-	42213041	A	-	42213041	7	5	21	1	0	1	0	1	0	0	0	0	12189	243	9	0	404	0	POLB	8	42213041	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	16919253	42213041	104150981	281	20016											
XKR4	114786	broad.mit.edu	37	chr8	56435947	56435947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccatcagctacatggccGtcatcatccagttctgctgg	9	14	4	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:56435947G>A	uc003xsf.2	+	3	1146	c.1114G>A	c.(1114-1116)GTC>ATC	p.V372I		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	372	Helical; (Potential).					integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTACATGGCCGTCATCATCCA	0.582													A	56435947	G	A	56435947	3	1	21	1	0	0	0	0	1	0	0	0	17430	1145	40	1	1124	1	XKR4	8	56435947	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	14222906	56435947	89928075	282	20017											
RPS20	6224	broad.mit.edu	37	chr8	56986697	56986697	+	Frame_Shift_Del	DEL	T	T	-													cacctccggctccacgggtgTttttccggtatccttaaaag							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:56986696_56986696GT>G	uc003xsm.2	-	1	224	c.26_26AC>C	c.(25-27)acafs	p.T9fs	RPS20_uc003xsn.2_Frame_Shift_Del_p.T9fs|SNORD54_uc003xso.1_5'Flank|RPS20_uc011lea.1_5'Flank	NM_001146227	NP_001139699	P60866	RS20_HUMAN	Homo sapiens ribosomal protein S20 (RPS20), transcript variant 1, mRNA.	9					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			CTCCACGGGTGTTTTTCCGGT	0.463													-	56986697	T	-	56986697	7	5	21	1	0	1	0	1	0	0	0	0	13632	1725	60	0	446	0	RPS20	8	56986697	Frame_Shift_Del	DEL	T	TCGA-BR-4363-01A-01D-1158-08	550750	56986697	89377325	283	20018											
VCPIP1	80124	broad.mit.edu	37	chr8	67547095	67547095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaatttttttcgctgggCctcaaccaaatcaggatcaa	7	11	3	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:67547095C>T	uc003xwn.2	-	3	3569	c.3310G>A	c.(3310-3312)GCC>ACC	p.A1104T		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	1104					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTTCGCTGGGCCTCAACCAAA	0.448													T	67547095	C	T	67547095	3	4	21	1	0	0	0	0	1	0	0	0	17138	739	26	2	362	2	VCPIP1	8	67547095	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	10560398	67547095	78816927	284	20019											
EYA1	2138	broad.mit.edu	37	chr8	72184073	72184073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcccatctgaacctcgacGcaatcgatcagaatctgaat	6	12	3	3	rs142104253		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:72184073G>A	uc003xys.3	-	9	1173	c.886C>T	c.(886-888)CGT>TGT	p.R296C	EYA1_uc003xyr.3_Missense_Mutation_p.R291C|EYA1_uc003xyt.3_Missense_Mutation_p.R263C|EYA1_uc010lzf.2_Missense_Mutation_p.R223C|EYA1_uc003xyu.2_Missense_Mutation_p.R296C|EYA1_uc011lfe.1_Missense_Mutation_p.R290C|EYA1_uc003xyv.2_Missense_Mutation_p.R174C	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	296					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GAACCTCGACGCAATCGATCA	0.463													A	72184073	G	A	72184073	3	1	21	1	0	0	0	0	1	0	0	0	5328	1087	38	1	928	1	EYA1	8	72184073	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	4636978	72184073	74179949	285	20020											
STAU2	27067	broad.mit.edu	37	chr8	74507471	74507472	+	Frame_Shift_Ins	INS	-	-	T													cagcattgcttctgcagcatINStttttttggctatcttttta							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:74507470_74507471A>AT	uc003xzm.3	-	10	1432_1433	c.1091_1092T>AT	c.(1090-1092)aatfs	p.N364fs	STAU2_uc011lfh.2_Frame_Shift_Ins_p.N260fs|STAU2_uc003xzn.3_Frame_Shift_Ins_p.N332fs|STAU2_uc011lfg.2_Frame_Shift_Ins_p.N192fs|STAU2_uc003xzo.3_Frame_Shift_Ins_p.N364fs|STAU2_uc003xzq.3_Frame_Shift_Ins_p.N144fs|STAU2_uc003xzp.3_Frame_Shift_Ins_p.N332fs|STAU2_uc011lfi.2_Frame_Shift_Ins_p.N326fs|STAU2_uc010lzk.3_Frame_Shift_Ins_p.N332fs|STAU2_uc010lzl.1_Frame_Shift_Ins_p.N192fs	NM_001164380	NP_001157855	Q9NUL3	STAU2_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA.	364	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	p.N332fs*67(1)|p.G364V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			CTTCTGCAGCATTTTTTTTGGC	0.327													T	74507472	-	T	74507471	7	5	21	1	0	1	1	0	0	0	0	0	15272	1493	52	0	765	0	STAU2	8	74507471	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	2323398	74507471	71856551	286	20021											
HNF4G	3174	broad.mit.edu	37	chr8	76456180	76456180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcaagggtttcttcagaCgcagcattcgtaagagtcac	12	9	3	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:76456180C>T	uc003yaq.2	+	3	382	c.112C>T	c.(112-114)CGC>TGC	p.R38C	HNF4G_uc003yap.1_Missense_Mutation_p.R38C|HNF4G_uc003yar.2_Missense_Mutation_p.R75C	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	38	Nuclear receptor.				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TTTCTTCAGACGCAGCATTCG	0.448													T	76456180	C	T	76456180	3	4	21	1	0	0	0	0	1	0	0	0	7254	536	19	1	229	1	HNF4G	8	76456180	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1948709	76456180	69907842	287	20022											
ZFHX4	79776	broad.mit.edu	37	chr8	77764274	77764274	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacgaattacaacagcaagCcgcattctttcagcctcagt	7	13	3	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:77764274C>A	uc003yav.2	+	10	5369	c.4982C>A	c.(4981-4983)GCC>GAC	p.A1661D	ZFHX4_uc003yau.1_Missense_Mutation_p.A1706D|ZFHX4_uc003yaw.1_Missense_Mutation_p.A1661D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1661	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAACAGCAAGCCGCATTCTTT	0.463										HNSCC(33;0.089)			A	77764274	C	A	77764274	3	1	21	1	0	0	0	0	1	0	0	0	17632	739	26	5	5151	5	ZFHX4	8	77764274	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1308094	77764274	68599748	288	20023											
SLC7A13	157724	broad.mit.edu	37	chr8	87229783	87229784	+	Frame_Shift_Ins	INS	-	-	A													tagaccataatgaacccgtgINSaaaaaaatatagtttatcaa							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:87229783_87229784insA	uc003ydq.1	-	3	1192_1193	c.1094_1095insT	c.(1093-1095)TTCfs	p.F365fs	SLC7A13_uc003ydr.1_Frame_Shift_Ins_p.F356fs	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	365	Helical; Name=10; (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1						ATGAACCCGTGAAAAAAATATA	0.337													A	87229784	-	A	87229783	7	5	21	1	0	1	1	0	0	0	0	0	14695	1281	45	0	325	0	SLC7A13	8	87229783	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	9465509	87229783	59134239	289	20024	70	2									
SLC7A13	157724	broad.mit.edu	37	chr8	87229784	87229785	+	Frame_Shift_Ins	INS	-	-	A													agaccataatgaacccgtgaINSaaaaaatatagtttatcaaa							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:87229783_87229784G>GA	uc003ydq.1	-	2	1192_1193	c.1094_1095C>TC	c.(1093-1095)ttcfs	p.F365fs	SLC7A13_uc003ydr.1_Frame_Shift_Ins_p.F356fs	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	365						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATGAACCCGTGAAAAAAATATA	0.337													A	87229785	-	A	87229784	7	5	21	1	0	1	1	0	0	0	0	0	14695	246	9	0	326	0	SLC7A13	8	87229784	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	1	87229784	59134238	290	20025	70	2									
CPNE3	8895	broad.mit.edu	37	chr8	87560586	87560586	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtctccagactcccttcatTacatcagccccaatggcgtt	7	15	3	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:87560586T>C	uc003ydv.2	+	12	1099	c.937T>C	c.(937-939)TAC>CAC	p.Y313H	CPNE3_uc003ydw.1_Missense_Mutation_p.Y29H	NM_003909	NP_003900	O75131	CPNE3_HUMAN	copine III	313	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			ovary(1)|skin(1)	2						CTCCCTTCATTACATCAGCCC	0.478													C	87560586	T	C	87560586	3	2	21	1	0	0	0	0	1	0	0	0	3813	1754	61	3	975	3	CPNE3	8	87560586	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	330802	87560586	58803436	291	20026											
ZFPM2	23414	broad.mit.edu	37	chr8	106573672	106573672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgggaacaacctgggggcCgtttcctgggaagatggact	16	8	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:106573672C>T	uc003ymd.2	+	4	406	c.383C>T	c.(382-384)CCG>CTG	p.P128L		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	128					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACCTGGGGGCCGTTTCCTGGG	0.438													T	106573672	C	T	106573672	3	4	21	1	0	0	0	0	1	0	0	0	17655	652	23	1	397	1	ZFPM2	8	106573672	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	19013086	106573672	39790350	292	20027											
EIF3E	3646	broad.mit.edu	37	chr8	109247236	109247236	+	Frame_Shift_Del	DEL	A	A	-													cttatacttaccagcactctAaaaaaataaagatattctgc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:109247235_109247235TA>T	uc003ymu.3	-	4	491	c.463_463TA>A	c.(463-465)agafs	p.R155fs	EIF3E_uc003ymt.3_Frame_Shift_Del_p.R106fs|EIF3E_uc010mcj.1_Frame_Shift_Del_p.R155fs	NM_001568	NP_001559	P60228	EIF3E_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit E (EIF3E), mRNA.	155	Sufficient for interaction with TRIM27.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	PML body|cytosol|eukaryotic translation initiation factor 3 complex	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			ACCAGCACTCTAAAAAAATAA	0.308													-	109247236	A	-	109247236	7	5	21	1	0	1	0	1	0	0	0	0	5015	359	13	0	911	0	EIF3E	8	109247236	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	2673564	109247236	37116786	293	20028											
PKHD1L1	93035	broad.mit.edu	37	chr8	110453038	110453038	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgaaatcaccataaggggTtttggattcagcacaatacc	8	9	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:110453038T>C	uc003yne.2	+	33	4160	c.4056T>C	c.(4054-4056)GGT>GGC	p.G1352G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1352	Extracellular (Potential).|IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCATAAGGGGTTTTGGATTCA	0.378										HNSCC(38;0.096)			C	110453038	T	C	110453038	2	2	21	1	0	0	0	0	0	0	0	1	11972	1712	60	3		3	PKHD1L1	8	110453038	Silent	SNP	T	TCGA-BR-4363-01A-01D-1158-08	1205802	110453038	35910984	294	20029											
CSMD3	114788	broad.mit.edu	37	chr8	114186058	114186058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagttacacagctgtagCggatcttgtccccgacgtcg	10	13	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:114186058C>T	uc003ynu.2	-	4	761	c.602G>A	c.(601-603)CGC>CAC	p.R201H	CSMD3_uc003ynt.2_Missense_Mutation_p.R161H|CSMD3_uc011lhx.1_Missense_Mutation_p.R201H|CSMD3_uc010mcx.1_Missense_Mutation_p.R201H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	201	Extracellular (Potential).|Sushi 1.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ACAGCTGTAGCGGATCTTGTC	0.458										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	114186058	C	T	114186058	3	4	21	1	0	0	0	0	1	0	0	0	3946	768	27	1	10793	1	CSMD3	8	114186058	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	3733020	114186058	32177964	295	20030											
TNFRSF11B	4982	broad.mit.edu	37	chr8	119945336	119945336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgcagtatagacactcGtcactggtgtgccagctgtc	13	11	1	1	rs144654126	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:119945336G>A	uc003yon.3	-	2	557	c.234C>T	c.(232-234)GAC>GAT	p.D78D	TNFRSF11B_uc010mdc.1_RNA	NM_002546	NP_002537	O00300	TR11B_HUMAN	osteoprotegerin precursor	78	TNFR-Cys 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			central_nervous_system(2)	2	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ATAGACACTCGTCACTGGTGT	0.567													A	119945336	G	A	119945336	2	1	21	1	0	0	0	0	0	0	0	1	16282	1136	40	1		1	TNFRSF11B	8	119945336	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	5759278	119945336	26418686	296	20031											
TAF2	6873	broad.mit.edu	37	chr8	120797490	120797490	+	Frame_Shift_Del	DEL	T	T	-													ttctccattcatcagtgggaTttttttctttttattcctac							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:120797489_120797489AT>A	uc003you.3	-	14	2081	c.1811_1811AT>T	c.(1810-1812)atcfs	p.I604fs		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	604				I -> K (in Ref. 6; AAH35673/AAH47732).	G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.I604I(1)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CATCAGTGGGATTTTTTTCTT	0.289													-	120797490	T	-	120797490	7	5	21	1	0	1	0	1	0	0	0	0	15521	1493	52	0	1837	0	TAF2	8	120797490	Frame_Shift_Del	DEL	T	TCGA-BR-4363-01A-01D-1158-08	852154	120797490	25566532	297	20032											
HAS2	3037	broad.mit.edu	37	chr8	122627103	122627103	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attggttgcccataaattctTgattgtaccaatcttccaca	5	10	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:122627103T>C	uc003yph.2	-	4	1443	c.905A>G	c.(904-906)CAA>CGA	p.Q302R		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	302	Cytoplasmic (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CATAAATTCTTGATTGTACCA	0.458													C	122627103	T	C	122627103	3	2	21	1	0	0	0	0	1	0	0	0	6962	1812	63	3	757	3	HAS2	8	122627103	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	1829613	122627103	23736919	298	20033											
FAM83A	84985	broad.mit.edu	37	chr8	124195533	124195533	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagaccgtcaagcacaacaAcatcagagacctcgtccgcc	7	17	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:124195533A>G	uc003ypv.2	+	2	2451	c.437A>G	c.(436-438)AAC>AGC	p.N146S	FAM83A_uc003ypw.2_Missense_Mutation_p.N146S|FAM83A_uc003ypy.2_Missense_Mutation_p.N146S|FAM83A_uc003ypx.2_Missense_Mutation_p.N146S|FAM83A_uc003ypz.2_Missense_Mutation_p.N146S	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	hypothetical protein LOC84985 isoform a	146										ovary(3)|skin(1)	4	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AAGCACAACAACATCAGAGAC	0.612													G	124195533	A	G	124195533	3	3	21	1	0	0	0	0	1	0	0	0	5633	43	2	3	439	3	FAM83A	8	124195533	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	1568430	124195533	22168489	299	20034											
FAM135B	51059	broad.mit.edu	37	chr8	139158276	139158276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgaaagtctttaccagccGgaggtctgcactgttcccta	9	11	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:139158276G>A	uc003yuy.2	-	15	3637	c.3466C>T	c.(3466-3468)CGG>TGG	p.R1156W	FAM135B_uc003yux.2_Missense_Mutation_p.R1057W|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.R718W|FAM135B_uc003yvb.2_Missense_Mutation_p.P683L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1156										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTTACCAGCCGGAGGTCTGCA	0.438										HNSCC(54;0.14)			A	139158276	G	A	139158276	3	1	21	1	0	0	0	0	1	0	0	0	5449	1115	39	1	778	1	FAM135B	8	139158276	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	14962743	139158276	7205746	300	20035											
EEF1D	1936	broad.mit.edu	37	chr8	144663405	144663405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggggcctcaccgccacGcagactctggttctccactt	10	18	3	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:144663405G>A	uc011lki.1	-	4	552	c.283C>T	c.(283-285)CGT>TGT	p.R95C	NAPRT1_uc003yym.3_5'Flank|NAPRT1_uc003yyn.3_5'Flank|NAPRT1_uc011lkh.1_5'Flank|NAPRT1_uc003yyo.3_5'Flank|EEF1D_uc003yyp.1_Missense_Mutation_p.R437C|EEF1D_uc003yyq.1_Missense_Mutation_p.R511C|EEF1D_uc011lkj.1_Missense_Mutation_p.R460C|EEF1D_uc003yyr.2_Missense_Mutation_p.R461C|EEF1D_uc003yyt.2_Missense_Mutation_p.R461C|EEF1D_uc011lkk.1_Missense_Mutation_p.R95C|EEF1D_uc003yys.2_Missense_Mutation_p.R95C|EEF1D_uc003yyv.2_Missense_Mutation_p.R71C|EEF1D_uc003yyu.2_Missense_Mutation_p.R95C|EEF1D_uc011lkl.1_Intron	NM_001130057	NP_001123529	P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta	95					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			ovary(1)|kidney(1)|skin(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TCACCGCCACGCAGACTCTGG	0.687													A	144663405	G	A	144663405	3	1	21	1	0	0	0	0	1	0	0	0	4926	1087	38	1	582	1	EEF1D	8	144663405	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	5505129	144663405	1700617	301	20036											
SHARPIN	81858	broad.mit.edu	37	chr8	145153900	145153900	+	Splice_Site	DEL	G	G	-													aggacaggaccagctgggctGggggaagagagacagttgtt							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:145153899_145153899TG>T	uc003zba.3	-	8	1532	c.1048_splice	c.e8-1	p.P350_splice	SHARPIN_uc003zbb.3_Splice_Site	NM_030974	NP_112236	Q9H0F6	SHRPN_HUMAN	Homo sapiens SHANK-associated RH domain interactor (SHARPIN), transcript variant 1, mRNA.	350					negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	LUBAC complex|cytosol	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGCTGGGCTGGGGGAAGAG	0.632													-	145153900	G	-	145153900	8	5	21	1	0	1	0	1	0	0	1	0	14267	1363	47	0		0	SHARPIN	8	145153900	Splice_Site	DEL	G	TCGA-BR-4363-01A-01D-1158-08	490495	145153900	1210122	302	20037											
DOCK8	81704	broad.mit.edu	37	chr9	332451	332451	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgtgcagagccctacacGgttatcaaagaaagtgatgg	12	8	1	3	rs139297216		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:332451G>A	uc003zgf.2	+	10	1210	c.1098G>A	c.(1096-1098)ACG>ACA	p.T366T	DOCK8_uc011lls.1_Silent_p.T366T|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Silent_p.T298T|DOCK8_uc003zgg.2_Silent_p.T298T|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	366	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGCCCTACACGGTTATCAAAG	0.348													A	332451	G	A	332451	2	1	21	1	0	0	0	0	0	0	0	1	4693	1103	39	1		1	DOCK8	9	332451	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08		332451	140880980	303	20038											
DOCK8	81704	broad.mit.edu	37	chr9	414890	414890	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaggtcaaaatcgccgcCctttacctacctttagttgg	9	11	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:414890C>T	uc003zgf.2	+	29	3751	c.3639C>T	c.(3637-3639)GCC>GCT	p.A1213A	DOCK8_uc010mgu.2_Silent_p.A515A|DOCK8_uc010mgv.2_Silent_p.A1113A|DOCK8_uc003zgk.2_Silent_p.A671A	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1213					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AAATCGCCGCCCTTTACCTAC	0.478													T	414890	C	T	414890	2	4	21	1	0	0	0	0	0	0	0	1	4693	610	22	4		4	DOCK8	9	414890	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	82439	414890	140798541	304	20039											
RFX3	5991	broad.mit.edu	37	chr9	3277342	3277343	+	Splice_Site	INS	-	-	A													attacaccttaacatacctaINSaaaactgttgatgatgttgg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:3277341_3277342T>TA	uc003zhr.3	-	9	1285	c.973_splice	c.e9+1	p.D325_splice	RFX3_uc010mhd.3_Splice_Site_p.D325_splice|RFX3_uc003zhs.1_Splice_Site_p.D325_splice|RFX3_uc003zht.1_Splice_Site_p.D325_splice|RFX3_uc010mhe.1_Splice_Site_p.D300_splice	NM_134428	NP_602304	P48380	RFX3_HUMAN	Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA.	325					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTAACATACCTAAAAACTGTTG	0.386													A	3277343	-	A	3277342	8	5	21	1	0	1	1	0	0	0	1	0	13264	372	13	0	1474	0	RFX3	9	3277342	Splice_Site	INS	-	TCGA-BR-4363-01A-01D-1158-08	2862452	3277342	137936089	305	20040											
INSL6	11172	broad.mit.edu	37	chr9	5185595	5185595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggacaagcggaggagcCgcggcatccctgtgacccca	15	14	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:5185595C>T	uc003zix.2	-	1	24	c.8G>A	c.(7-9)CGG>CAG	p.R3Q		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	insulin-like 6 precursor	3						extracellular region	hormone activity				0	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		GCGGAGGAGCCGCGGCATCCC	0.672													T	5185595	C	T	5185595	3	4	21	1	0	0	0	0	1	0	0	0	7770	652	23	1	641	1	INSL6	9	5185595	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1908253	5185595	136027836	306	20041											
PSIP1	11168	broad.mit.edu	37	chr9	15468838	15468838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgactaactttgaatcgccGtatctgagaaaacaatatac	6	9	1	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:15468838G>A	uc003zlv.3	-	14	1540	c.1210C>T	c.(1210-1212)CGG>TGG	p.R404W	PSIP1_uc003zlw.3_Missense_Mutation_p.R404W	NM_033222	NP_150091	O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1 isoform 2	404					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(1)	1				GBM - Glioblastoma multiforme(50;2.38e-06)		TTGAATCGCCGTATCTGAGAA	0.303													A	15468838	G	A	15468838	3	1	21	1	0	0	0	0	1	0	0	0	12663	1144	40	1	394	1	PSIP1	9	15468838	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	10283243	15468838	125744593	307	20042											
B4GALT1	2683	broad.mit.edu	37	chr9	33115994	33115994	+	Frame_Shift_Del	DEL	A	A	-													agttatgaccattacctgttAaaaatgtcatcatcttctcc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:33115994delA	uc003zsg.2	-	4	1143	c.954delT	c.(952-954)TTTfs	p.F318fs		NM_001497	NP_001488	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	318	Lumenal (Potential).				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity				0			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	ATTACCTGTTAAAAATGTCAT	0.398													-	33115994	A	-	33115994	7	5	21	1	0	1	0	1	0	0	0	0	1270	359	13	0	254	0	B4GALT1	9	33115994	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	17647156	33115994	108097437	308	20043											
CNTFR	1271	broad.mit.edu	37	chr9	34564807	34564807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcacgtcagagcccaggcGctcgtactgcacatggggtg	14	12	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:34564807G>A	uc003zup.1	-	4	390	c.109C>T	c.(109-111)CGC>TGC	p.R37C	CNTFR_uc003zuq.1_Missense_Mutation_p.R37C	NM_147164	NP_671693	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	37	Ig-like C2-type.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			ovary(3)|central_nervous_system(1)|skin(1)	5	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		GAGCCCAGGCGCTCGTACTGC	0.652													A	34564807	G	A	34564807	3	1	21	1	0	0	0	0	1	0	0	0	3638	1087	38	1	1037	1	CNTFR	9	34564807	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1448813	34564807	106648624	309	20044											
RUSC2	9853	broad.mit.edu	37	chr9	35557979	35557979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcacaagccgggatcccGgggtgaaggtaggcaaggaa	17	8	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:35557979G>A	uc003zww.2	+	6	3307	c.3052G>A	c.(3052-3054)GGG>AGG	p.G1018R	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.G1018R	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1018						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCGGGATCCCGGGGTGAAGGT	0.557													A	35557979	G	A	35557979	3	1	21	1	0	0	0	0	1	0	0	0	13751	1116	39	1	3070	1	RUSC2	9	35557979	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	993172	35557979	105655452	310	20045											
TLN1	7094	broad.mit.edu	37	chr9	35717226	35717226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataacggccagcaggcccaGcccctgtggcatgggctttc	12	15	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:35717226G>A	uc003zxt.2	-	19	2729	c.2375C>T	c.(2374-2376)GCT>GTT	p.A792V		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	792					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCAGGCCCAGCCCCTGTGGC	0.587													A	35717226	G	A	35717226	3	1	21	1	0	0	0	0	1	0	0	0	15944	971	34	2	5406	2	TLN1	9	35717226	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	159247	35717226	105496205	311	20046											
NAA35	60560	broad.mit.edu	37	chr9	88631578	88631578	+	Frame_Shift_Del	DEL	A	A	-													gtagtagtaaaaaaacaaagAaaaaaaagaaaggtgctgtg					rs140184707		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:88631577_88631577GA>G	uc004aoi.4	+	17	1829	c.1692_1692GA>G	c.(1690-1692)aagfs	p.K564fs	NAA35_uc004aoj.4_Frame_Shift_Del_p.K564fs	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.	564					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		p.K564K(2)|p.T563K(1)|p.T563fs*10(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						AAAAAACAAAGAAAAAAAAGA	0.383													-	88631578	A	-	88631578	7	5	21	1	0	1	0	1	0	0	0	0	10123	247	9	0	1759	0	NAA35	9	88631578	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	52914352	88631578	52581853	312	20047											
FGD3	89846	broad.mit.edu	37	chr9	95738590	95738590	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggacccattgctgccctaGggatgccagacactgggcct	12	14	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:95738590G>T	uc004asw.2	+	3	680	c.52G>T	c.(52-54)GGG>TGG	p.G18W	FGD3_uc004asx.2_Missense_Mutation_p.G18W|FGD3_uc004asz.2_Missense_Mutation_p.G18W	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	18					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						TGCTGCCCTAGGGATGCCAGA	0.652													T	95738590	G	T	95738590	3	4	21	1	0	0	0	0	1	0	0	0	5834	1000	35	5	54	5	FGD3	9	95738590	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	7107012	95738590	45474841	313	20048											
C9orf129	445577	broad.mit.edu	37	chr9	96080715	96080715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacggcgggacgctggggCagggcacactggcggagctg	21	10	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:96080715C>T	uc010mre.2	-	5	920	c.556G>A	c.(556-558)GCC>ACC	p.A186T	WNK2_uc011lud.1_3'UTR|WNK2_uc004atj.2_Intron|WNK2_uc004atk.2_3'UTR	NM_001098808	NP_001092278	Q5T035	CI129_HUMAN	hypothetical protein LOC445577	186										ovary(1)	1						GACGCTGGGGCAGGGCACACT	0.592													T	96080715	C	T	96080715	3	4	21	1	0	0	0	0	1	0	0	0	2456	710	25	2	38	2	C9orf129	9	96080715	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	342125	96080715	45132716	314	20049											
PHF2	5253	broad.mit.edu	37	chr9	96437269	96437269	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taagtcccggtcgaagaaaaGgaaaggctcagacgacgctc	12	10	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:96437269G>T	uc004aub.2	+	19	2834	c.2687G>T	c.(2686-2688)AGG>ATG	p.R896M	PHF2_uc011lug.1_Missense_Mutation_p.R779M|PHF2_uc004auc.2_Missense_Mutation_p.R316M	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	896					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TCGAAGAAAAGGAAAGGCTCA	0.572													T	96437269	G	T	96437269	3	4	21	1	0	0	0	0	1	0	0	0	11830	1000	35	5	2761	5	PHF2	9	96437269	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	356554	96437269	44776162	315	20050											
SLC35D2	11046	broad.mit.edu	37	chr9	99098997	99098998	+	Splice_Site	INS	-	-	C													tacttatctatggtttcttaINSccccaaaaaacaggaaagaa							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:99098997_99098998insC	uc004awc.2	-	9	828	c.752_splice	c.e9+1	p.G251_splice	SLC35D2_uc010msd.2_Splice_Site|SLC35D2_uc010mse.2_Splice_Site_p.G204_splice|SLC35D2_uc010msf.2_Intron|SLC35D2_uc004awd.2_Intron	NM_007001	NP_008932	Q76EJ3	S35D2_HUMAN	solute carrier family 35, member D2							Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity				0		Acute lymphoblastic leukemia(62;0.0167)				ATGGTTTCTTACCCCAAAAAAC	0.327													C	99098998	-	C	99098997	8	5	21	1	0	1	1	0	0	0	1	0	14582	405	14	0	275	0	SLC35D2	9	99098997	Splice_Site	INS	-	TCGA-BR-4363-01A-01D-1158-08	2661728	99098997	42114434	316	20051											
ZNF462	58499	broad.mit.edu	37	chr9	109689491	109689492	+	Frame_Shift_Ins	INS	-	-	C													gtccaacatgggttccccacINScccccccacaacccccgcca					rs76712188		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:109689490_109689491A>AC	uc004bcz.3	+	2	3586_3587	c.3297_3298A>AC	c.(3295-3300)ccacccfs	p.P1099fs	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Frame_Shift_Ins_p.P947fs|ZNF462_uc004bda.3_Frame_Shift_Ins_p.P947fs	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1099					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P1100T(2)|p.P1099P(2)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGGGTTCCCCACCCCCCCCACA	0.53													C	109689492	-	C	109689491	7	5	21	1	0	1	1	0	0	0	0	0	17923	507	18	0	3304	0	ZNF462	9	109689491	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	10590494	109689491	31523940	317	20052											
PTPN3	5774	broad.mit.edu	37	chr9	112207535	112207535	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttacattgtacggcataggAcgctagaaccactgctgagt	10	10	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:112207535A>T	uc004bed.2	-	7	563	c.451T>A	c.(451-453)TCC>ACC	p.S151T	PTPN3_uc004beb.2_Missense_Mutation_p.S20T|PTPN3_uc004bec.2_Missense_Mutation_p.S20T|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.S151T|PTPN3_uc011lwh.1_Missense_Mutation_p.S42T	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	151	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						ACGGCATAGGACGCTAGAACC	0.458													T	112207535	A	T	112207535	3	4	21	1	0	0	0	0	1	0	0	0	12789	275	10	5	2370	5	PTPN3	9	112207535	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	2518044	112207535	29005896	318	20053											
ZNF483	158399	broad.mit.edu	37	chr9	114305357	114305357	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacacctaaaaattcatacCggaaggagagaatatgaatg	9	6	1	2	rs142474847		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:114305357C>T	uc004bff.2	+	6	2366	c.2142C>T	c.(2140-2142)ACC>ACT	p.T714T	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	714					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						AAATTCATACCGGAAGGAGAG	0.403													T	114305357	C	T	114305357	2	4	21	1	0	0	0	0	0	0	0	1	17933	639	23	1		1	ZNF483	9	114305357	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	2097822	114305357	26908074	319	20054											
DAB2IP	153090	broad.mit.edu	37	chr9	124535255	124535255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcacctccgagggcgcGccaggccggccccagctgtt	14	18	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:124535255G>A	uc004bln.2	+	12	2433	c.2364G>A	c.(2362-2364)GCG>GCA	p.A788A	DAB2IP_uc004blo.2_Silent_p.A692A|DAB2IP_uc004blp.2_Silent_p.A221A	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	816					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2						CCGAGGGCGCGCCAGGCCGGC	0.726													A	124535255	G	A	124535255	2	1	21	1	0	0	0	0	0	0	0	1	4219	1074	38	1		1	DAB2IP	9	124535255	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	10229898	124535255	16678176	320	20055											
SH2D3C	10044	broad.mit.edu	37	chr9	130502091	130502091	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggctcagggccctctggTggggccgagtcacactccag	15	14	3	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:130502091T>C	uc004bsc.2	-	11	2419	c.2277A>G	c.(2275-2277)CCA>CCG	p.P759P	SH2D3C_uc010mxo.2_Silent_p.P599P|SH2D3C_uc004bry.2_Silent_p.P601P|SH2D3C_uc004brz.3_Silent_p.P405P|SH2D3C_uc011mak.1_Silent_p.P405P|SH2D3C_uc004bsa.2_Silent_p.P602P|SH2D3C_uc004bsb.2_Silent_p.P691P	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	759	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						GGCCCTCTGGTGGGGCCGAGT	0.682													C	130502091	T	C	130502091	2	2	21	1	0	0	0	0	0	0	0	1	14234	1683	59	3		3	SH2D3C	9	130502091	Silent	SNP	T	TCGA-BR-4363-01A-01D-1158-08	5966836	130502091	10711340	321	20056											
WDR34	89891	broad.mit.edu	37	chr9	131396974	131396974	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgccctacgtacctgtggAagggggaacagctcacagag	13	12	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:131396974A>G	uc004bvq.1	-	7	1332	c.1208T>C	c.(1207-1209)TTC>TCC	p.F403S	WDR34_uc004bvs.1_Missense_Mutation_p.F394S|WDR34_uc004bvr.1_Missense_Mutation_p.F375S	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	WD repeat domain 34	403	WD 3.					cytoplasm				central_nervous_system(2)|skin(1)	3						GTACCTGTGGAAGGGGGAACA	0.657													G	131396974	A	G	131396974	3	3	21	1	0	0	0	0	1	0	0	0	17285	246	9	3	414	3	WDR34	9	131396974	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	894883	131396974	9816457	322	20057											
UCK1	83549	broad.mit.edu	37	chr9	134400578	134400578	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaccattcagaatgtccTggatgtgctgcacgatcagg	11	10	3	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:134400578T>C	uc004cay.2	-	7	784	c.683A>G	c.(682-684)CAG>CGG	p.Q228R	UCK1_uc010mzk.2_Missense_Mutation_p.Q219R|UCK1_uc004cba.2_Silent_p.P196P|UCK1_uc004caz.2_RNA	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1 isoform a	228					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		CAGAATGTCCTGGATGTGCTG	0.602													C	134400578	T	C	134400578	3	2	21	1	0	0	0	0	1	0	0	0	16920	1580	55	3	154	3	UCK1	9	134400578	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	3003604	134400578	6812853	323	20058											
SETX	23064	broad.mit.edu	37	chr9	135201742	135201742	+	Frame_Shift_Del	DEL	A	A	-													tattcaataccatcaaagggAaaaaaacattaaaataatct							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:135201741_135201741GA>G	uc004cbk.3	-	9	5427	c.5244_5244TC>C	c.(5242-5244)ttcfs	p.F1748fs	SETX_uc004cbj.3_Frame_Shift_Del_p.F1367fs|SETX_uc010mzt.3_Frame_Shift_Del_p.F1367fs	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1748					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.L1750fs*8(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CCATCAAAGGGAAAAAAACAT	0.378													-	135201742	A	-	135201742	7	5	21	1	0	1	0	1	0	0	0	0	14141	246	9	0	2858	0	SETX	9	135201742	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	801164	135201742	6011689	324	20059											
WDR5	11091	broad.mit.edu	37	chr9	137019598	137019598	+	Frame_Shift_Del	DEL	C	C	-													tttattgcagatgacgacaaCccccccgtgtcttttgtgaa							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:137019597_137019597AC>A	uc004cey.3	+	9	812	c.641_641AC>A	c.(640-642)aacfs	p.N214fs	WDR5_uc004cez.3_Frame_Shift_Del_p.N214fs	NM_017588	NP_438172	P61964	WDR5_HUMAN	Homo sapiens WD repeat domain 5 (WDR5), transcript variant 1, mRNA.	214					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		GATGACGACAACCCCCCCGTG	0.627													-	137019598	C	-	137019598	7	5	21	1	0	1	0	1	0	0	0	0	17300	506	18	0	676	0	WDR5	9	137019598	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	1817856	137019598	4193833	325	20060											
COL5A1	1289	broad.mit.edu	37	chr9	137642390	137642391	+	Frame_Shift_Ins	INS	-	-	C													tggccccttgtcttcagggcINSccccctggacgcccaggcct							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:137642389_137642390G>GC	uc004cfe.3	+	11	1878_1879	c.1496_1497G>GC	c.(1495-1497)ggcfs	p.G499fs		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	499	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.P501fs*57(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGTCTTCAGGGCCCCCCTGGAC	0.663													C	137642391	-	C	137642390	7	5	21	1	0	1	1	0	0	0	0	0	3696	726	26	0	1543	0	COL5A1	9	137642390	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	622792	137642390	3571041	326	20061											
COL5A1	1289	broad.mit.edu	37	chr9	137710590	137710590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccggaccggatggccttcGagggatccctggccctgtgg	16	14	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:137710590G>A	uc004cfe.2	+	55	4701	c.4319G>A	c.(4318-4320)CGA>CAA	p.R1440Q		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1440	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GATGGCCTTCGAGGGATCCCT	0.682													A	137710590	G	A	137710590	3	1	21	1	0	0	0	0	1	0	0	0	3696	1058	37	1	4537	1	COL5A1	9	137710590	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	68200	137710590	3502841	327	20062											
COL5A1	1289	broad.mit.edu	37	chr9	137716476	137716476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaggtcatccagcccctgCcaatccaggcatccaggacg	11	15	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:137716476C>T	uc004cfe.2	+	62	5111	c.4729C>T	c.(4729-4731)CCA>TCA	p.P1577S	uc004cff.2_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1577	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAGCCCCTGCCAATCCAGGC	0.647													T	137716476	C	T	137716476	3	4	21	1	0	0	0	0	1	0	0	0	3696	739	26	2	4975	2	COL5A1	9	137716476	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	5886	137716476	3496955	328	20063											
COL5A1	1289	broad.mit.edu	37	chr9	137727007	137727007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacgacgaggagatgtcctAtgacaacaacccctacatcc	7	14	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:137727007A>G	uc004cfe.2	+	65	5709	c.5327A>G	c.(5326-5328)TAT>TGT	p.Y1776C	uc004cff.2_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1776	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAGATGTCCTATGACAACAAC	0.667													G	137727007	A	G	137727007	3	3	21	1	0	0	0	0	1	0	0	0	3696	449	16	3	5585	3	COL5A1	9	137727007	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	10531	137727007	3486424	329	20064											
EHMT1	79813	broad.mit.edu	37	chr9	140707505	140707506	+	Frame_Shift_Del	DEL	GA	GA	-													caccttaaagaacaaggaagGagagacgcccctgcagtgtg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:140707504_140707505GGA>G	uc011mfc.2	+	19	2951_2952	c.2914_2915GGA>G	c.(2914-2916)ggafs	p.G972fs	EHMT1_uc004coe.3_5'Flank	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	972					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GAACAAGGAAGGAGAGACGCCC	0.525													-	140707506	GA	-	140707505	7	5	21	1	0	1	0	1	0	0	0	0	4983	1174	41	0	3042	0	EHMT1	9	140707505	Frame_Shift_Del	DEL	GA	TCGA-BR-4363-01A-01D-1158-08	2980498	140707505	505926	330	20065											
ZMYND11	10771	broad.mit.edu	37	chr10	298390	298390	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcacgcggagcacaagcgcAcctgccgccggaaaagatga	14	13	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:298390A>G	uc010pzt.1	+	15	2217	c.1789A>G	c.(1789-1791)ACC>GCC	p.T597A	ZMYND11_uc010pzu.1_Missense_Mutation_p.T597A|ZMYND11_uc010pzv.1_Missense_Mutation_p.T542A|ZMYND11_uc010pzw.1_Missense_Mutation_p.T512A|ZMYND11_uc001ifm.2_Missense_Mutation_p.T543A|ZMYND11_uc009xhg.2_Missense_Mutation_p.T580A|ZMYND11_uc009xhh.2_Missense_Mutation_p.T471A|ZMYND11_uc010pzy.1_Missense_Mutation_p.T449A	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	557	MYND-type.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCACAAGCGCACCTGCCGCCG	0.542													G	298390	A	G	298390	3	3	21	1	0	0	0	0	1	0	0	0	17703	159	6	3	1864	3	ZMYND11	10	298390	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08		298390	135236357	331	20066											
LARP4B	23185	broad.mit.edu	37	chr10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-													agataagcagaattccaatgTttttttaagtacttctcggg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:890939delT	uc001ifs.1	-	5	528	c.487delA	c.(487-489)ACAfs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	163	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						AATTCCAATGTTTTTTTAAGT	0.353													-	890939	T	-	890939	7	5	21	1	0	1	0	1	0	0	0	0	8631	1725	60	0	1781	0	LARP4B	10	890939	Frame_Shift_Del	DEL	T	TCGA-BR-4363-01A-01D-1158-08	592549	890939	134643808	332	20067											
PFKP	5214	broad.mit.edu	37	chr10	3155656	3155656	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcgtgggcattgccgaCggccacaggatgctcgccat	15	13	0	0	rs148946725		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:3155656C>T	uc001igp.2	+	13	1353	c.1317C>T	c.(1315-1317)GAC>GAT	p.D439D	PFKP_uc001igq.2_Silent_p.D431D|PFKP_uc009xhr.2_Silent_p.D401D|PFKP_uc009xhs.1_Silent_p.D223D|PFKP_uc009xht.2_Silent_p.D177D|PFKP_uc009xhu.2_Translation_Start_Site	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	439					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GCATTGCCGACGGCCACAGGA	0.617													T	3155656	C	T	3155656	2	4	21	1	0	0	0	0	0	0	0	1	11766	535	19	1		1	PFKP	10	3155656	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	2264717	3155656	132379091	333	20068											
TAF3	83860	broad.mit.edu	37	chr10	8007107	8007107	+	Frame_Shift_Del	DEL	A	A	-													gcagagagatagggagagggAaaaagacaagaacaaggaca							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:8007107delA	uc010qbd.1	+	3	1634	c.1634delA	c.(1633-1635)GAAfs	p.E545fs		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	545	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1						agggagagggaaaaagacaag	0.204													-	8007107	A	-	8007107	7	5	21	1	0	1	0	1	0	0	0	0	15522	246	9	0	1644	0	TAF3	10	8007107	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	4851451	8007107	127527640	334	20069											
UPF2	26019	broad.mit.edu	37	chr10	11997436	11997436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taacagctgattccaccattCggtaattgtaaagttctcct	6	10	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:11997436C>T	uc001ila.2	-	13	3119	c.2645G>A	c.(2644-2646)CGA>CAA	p.R882Q	UPF2_uc001ilb.2_Missense_Mutation_p.R882Q|UPF2_uc001ilc.2_Missense_Mutation_p.R882Q|UPF2_uc009xiz.1_Missense_Mutation_p.R882Q	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	882	Sufficient for interaction with UPF3A and UPF3B.|MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				TTCCACCATTCGGTAATTGTA	0.403													T	11997436	C	T	11997436	3	4	21	1	0	0	0	0	1	0	0	0	17001	884	31	1	1209	1	UPF2	10	11997436	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	3990329	11997436	123537311	335	20070											
CDC123	8872	broad.mit.edu	37	chr10	12291660	12291660	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttaccggctacccaaggaCtttgtagacctctctactgg	9	12	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:12291660C>T	uc001ill.2	+	12	1211	c.927C>T	c.(925-927)GAC>GAT	p.D309D	CDC123_uc001ilm.2_Silent_p.D321D	NM_006023	NP_006014	O75794	CD123_HUMAN	cell division cycle 123	309					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)	1						TACCCAAGGACTTTGTAGACC	0.463													T	12291660	C	T	12291660	2	4	21	1	0	0	0	0	0	0	0	1	3055	564	20	4		4	CDC123	10	12291660	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	294224	12291660	123243087	336	20071											
CCDC3	83643	broad.mit.edu	37	chr10	12940431	12940431	+	Frame_Shift_Del	DEL	G	G	-													gcccgttacccccgcaggtaGggggggcgcacgggcccccg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:12940431delG	uc001ilq.1	-	3	932	c.798delC	c.(796-798)CCCfs	p.P266fs	CCDC3_uc009xjb.1_RNA|CCDC3_uc001ilr.2_RNA|CCDC3_uc009xjc.1_RNA	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3 precursor	266						endoplasmic reticulum|extracellular region				ovary(1)	1		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			CCCGCAGGTAGGGGGGGCGCA	0.642													-	12940431	G	-	12940431	7	5	21	1	0	1	0	1	0	0	0	0	2804	987	35	0	18	0	CCDC3	10	12940431	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	648771	12940431	122594316	337	20072											
BEND7	222389	broad.mit.edu	37	chr10	13541863	13541863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaactgtccactctggggCggtagctcattccacacacc	10	14	2	1	rs113945389	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:13541863C>T	uc001imm.2	-	3	504	c.207G>A	c.(205-207)CCG>CCA	p.P69P	BEND7_uc001imo.3_Silent_p.P69P	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	BEN domain containing 7 isoform 1	121							protein binding			ovary(1)|breast(1)	2						CACTCTGGGGCGGTAGCTCAT	0.577													T	13541863	C	T	13541863	2	4	21	1	0	0	0	0	0	0	0	1	1403	755	27	1		1	BEND7	10	13541863	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	601432	13541863	121992884	338	20073											
HSPA14	51182	broad.mit.edu	37	chr10	14896175	14896175	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgagccatgatgaaattaacGaacagtgctgaagtagcgaa	11	7	0	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:14896175G>A	uc001inf.2	+	9	927	c.786G>A	c.(784-786)ACG>ACA	p.T262T		NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14 isoform 1	262					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			ovary(2)|breast(2)|lung(1)	5						TGAAATTAACGAACAGTGCTG	0.378													A	14896175	G	A	14896175	2	1	21	1	0	0	0	0	0	0	0	1	7407	1045	37	1		1	HSPA14	10	14896175	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1354312	14896175	120638572	339	20074											
CUBN	8029	broad.mit.edu	37	chr10	17085918	17085918	+	Frame_Shift_Del	DEL	G	G	-													ctccactagaacgaataagaGggggtttctcatccccacaa							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:17085917_17085917AG>A	uc001ioo.3	-	25	3790	c.3738_3738CT>T	c.(3736-3738)cctfs	p.P1246fs		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1246	CUB 7.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AACGAATAAGAGGGGGTTTCT	0.433													-	17085918	G	-	17085918	7	5	21	1	0	1	0	1	0	0	0	0	4051	1000	35	0	7302	0	CUBN	10	17085918	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	2189743	17085918	118448829	340	20075											
PLXDC2	84898	broad.mit.edu	37	chr10	20290849	20290849	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcgtcggccaagactcTcctgagcccagaagcttcac	10	15	2	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:20290849T>C	uc001iqg.1	+	2	895	c.258T>C	c.(256-258)TCT>TCC	p.S86S	PLXDC2_uc001iqh.1_Silent_p.S86S	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	86	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						GCCAAGACTCTCCTGAGCCCA	0.493													C	20290849	T	C	20290849	2	2	21	1	0	0	0	0	0	0	0	1	12118	1538	54	3		3	PLXDC2	10	20290849	Silent	SNP	T	TCGA-BR-4363-01A-01D-1158-08	3204931	20290849	115243898	341	20076											
SVIL	6840	broad.mit.edu	37	chr10	29811362	29811362	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttaatagacatggttttGctgggtgagtcaagaaggcc	12	6	2	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:29811362G>A	uc001iut.1	-	16	4119	c.3366C>T	c.(3364-3366)AGC>AGT	p.S1122S	SVIL_uc010qdw.1_Silent_p.S20S|SVIL_uc001iuu.1_Silent_p.S696S	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1122					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				ACATGGTTTTGCTGGGTGAGT	0.483													A	29811362	G	A	29811362	2	1	21	1	0	0	0	0	0	0	0	1	15418	1310	46	2		2	SVIL	10	29811362	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	9520513	29811362	105723385	342	20077											
GPRIN2	9721	broad.mit.edu	37	chr10	47000018	47000018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggtgccgtcccctgtgCgggatgtgcgatgggatgct	18	9	0	0	rs114077038	by1000genomes	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:47000018C>T	uc001jec.2	+	3	1273	c.1138C>T	c.(1138-1140)CGG>TGG	p.R380W	GPRIN2_uc010qfq.1_Missense_Mutation_p.R143W	NM_014696	NP_055511	O60269	GRIN2_HUMAN	G protein-regulated inducer of neurite outgrowth	380											0						GTCCCCTGTGCGGGATGTGCG	0.647													T	47000018	C	T	47000018	3	4	21	1	0	0	0	0	1	0	0	0	6730	759	27	1	1140	1	GPRIN2	10	47000018	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	17188656	47000018	88534729	343	20078											
GDF10	2662	broad.mit.edu	37	chr10	48429407	48429407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggcccaggggcagcgggCggcctgaagcgttcttggcc	19	13	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:48429407C>T	uc001jfb.2	-	2	935	c.479G>A	c.(478-480)CGC>CAC	p.R160H	GDF10_uc009xnp.2_Missense_Mutation_p.R159H|GDF10_uc009xnq.1_Missense_Mutation_p.R160H	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	160					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2						GGGCAGCGGGCGGCCTGAAGC	0.682													T	48429407	C	T	48429407	3	4	21	1	0	0	0	0	1	0	0	0	6311	768	27	1	965	1	GDF10	10	48429407	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1429389	48429407	87105340	344	20079											
C10orf128	170371	broad.mit.edu	37	chr10	50374941	50374941	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccccaggcgtgcttttcaGgtcggaagagtcgtcgtcaa	13	12	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:50374941G>T	uc001jhn.3	-	3	237	c.211C>A	c.(211-213)CTG>ATG	p.L71M	C10orf128_uc001jhl.3_RNA|C10orf128_uc001jhm.3_Missense_Mutation_p.L71M|C10orf128_uc010qgo.1_Missense_Mutation_p.L71M|C10orf128_uc001jho.3_Missense_Mutation_p.L71M	NM_001010863	NP_001010863	Q5T292	CJ128_HUMAN	hypothetical protein LOC170371 precursor	71	Cytoplasmic (Potential).					integral to membrane				lung(1)	1						GTGCTTTTCAGGTCGGAAGAG	0.622													T	50374941	G	T	50374941	3	4	21	1	0	0	0	0	1	0	0	0	1592	991	35	5	122	5	C10orf128	10	50374941	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1945534	50374941	85159806	345	20080											
ANK3	288	broad.mit.edu	37	chr10	62021641	62021641	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtgaaatccacagcagcCgctcggtttaacagcaacgt	11	12	0	1	rs146748344		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:62021641C>T	uc001jky.2	-	7	966	c.774G>A	c.(772-774)GCG>GCA	p.A258A	ANK3_uc010qih.1_Silent_p.A241A|ANK3_uc001jkz.3_Silent_p.A252A|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	258	ANK 6.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CCACAGCAGCCGCTCGGTTTA	0.438													T	62021641	C	T	62021641	2	4	21	1	0	0	0	0	0	0	0	1	622	639	23	1		1	ANK3	10	62021641	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	11646700	62021641	73513106	346	20081											
ZNF365	22891	broad.mit.edu	37	chr10	64136621	64136621	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttaaacagacaggtggaCgtggccgtggaaatgatagc	14	8	0	2	rs150802191		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:64136621C>T	uc001jmc.2	+	2	984	c.669C>T	c.(667-669)GAC>GAT	p.D223D	ZNF365_uc001jly.3_Silent_p.D238D|ZNF365_uc001jmb.3_Silent_p.D223D|ZNF365_uc001jlz.3_Silent_p.D223D|ZNF365_uc001jma.3_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform C	Error:Variant_position_missing_in_Q70YC4_after_alignment										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GACAGGTGGACGTGGCCGTGG	0.512													T	64136621	C	T	64136621	2	4	21	1	0	0	0	0	0	0	0	1	17866	535	19	1		1	ZNF365	10	64136621	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	2114980	64136621	71398126	347	20082											
CCAR1	55749	broad.mit.edu	37	chr10	70525719	70525719	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatattttgcctgatgaaccGgccatcattgtacatccaaa	6	10	1	2	rs149316365		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:70525719G>A	uc001joo.2	+	17	2300	c.2181G>A	c.(2179-2181)CCG>CCA	p.P727P	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Silent_p.P532P|CCAR1_uc009xpx.1_Silent_p.P701P|CCAR1_uc001jon.1_Silent_p.P673P|CCAR1_uc010qiz.1_Silent_p.P712P|CCAR1_uc010qja.1_Silent_p.P712P|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	727	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7						CTGATGAACCGGCCATCATTG	0.383													A	70525719	G	A	70525719	2	1	21	1	0	0	0	0	0	0	0	1	2730	1103	39	1		1	CCAR1	10	70525719	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	6389098	70525719	65009028	348	20083											
VCL	7414	broad.mit.edu	37	chr10	75877825	75877825	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccagaacctcatgcagtcTgtgaaggagactgtgcggga	14	10	2	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:75877825T>C	uc001jwd.2	+	22	3397	c.3303T>C	c.(3301-3303)TCT>TCC	p.S1101S	VCL_uc009xrr.2_Silent_p.S782S|VCL_uc001jwe.2_Silent_p.S1033S|VCL_uc010qkz.1_Silent_p.S294S	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	1101	C-terminal tail.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)					TCATGCAGTCTGTGAAGGAGA	0.512													C	75877825	T	C	75877825	2	2	21	1	0	0	0	0	0	0	0	1	17136	1567	55	3		3	VCL	10	75877825	Silent	SNP	T	TCGA-BR-4363-01A-01D-1158-08	5352106	75877825	59656922	349	20084											
LRIT2	340745	broad.mit.edu	37	chr10	85984651	85984651	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagagcttgttcccctcCagtctcagctccctcagttc	8	16	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:85984651C>T	uc001kcy.2	-	2	338	c.330G>A	c.(328-330)CTG>CTA	p.L110L	LRIT2_uc010qmc.1_Silent_p.L110L	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	leucine rich repeat containing 22 precursor	110	LRR 2.					integral to membrane				ovary(2)	2						TGTTCCCCTCCAGTCTCAGCT	0.527													T	85984651	C	T	85984651	2	4	21	1	0	0	0	0	0	0	0	1	8948	581	21	4		4	LRIT2	10	85984651	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	10106826	85984651	49550096	350	20085											
WAPAL	23063	broad.mit.edu	37	chr10	88260443	88260444	+	Frame_Shift_Ins	INS	-	-	T													cttagtactgtcatcagcatINSttttgtgaatatggtgacta							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:88260442_88260443A>AT	uc001kdn.3	-	3	695_696	c.686_687T>AT	c.(685-687)aatfs	p.N229fs	WAPAL_uc001kdo.3_Frame_Shift_Ins_p.N186fs|WAPAL_uc009xsw.3_Frame_Shift_Ins_p.N186fs	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	186	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TGTCATCAGCATTTTTGTGAAT	0.356													T	88260444	-	T	88260443	7	5	21	1	0	1	1	0	0	0	0	0	17245	1493	52	0	3083	0	WAPAL	10	88260443	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	2275792	88260443	47274304	351	20086											
KIF20B	9585	broad.mit.edu	37	chr10	91514321	91514321	+	Frame_Shift_Del	DEL	A	A	-													tagaaagaaatggttagaagAaaaaatgatgcttatcactc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:91514320_91514320GA>G	uc001kgs.1	+	25	4465	c.4393_4393GA>G	c.(4393-4395)gaafs	p.E1465fs	KIF20B_uc001kgr.1_Frame_Shift_Del_p.E1425fs|KIF20B_uc001kgt.1_Frame_Shift_Del_p.E676fs|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1465					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATGGTTAGAAGAAAAAATGAT	0.323													-	91514321	A	-	91514321	7	5	21	1	0	1	0	1	0	0	0	0	8287	246	9	0	4372	0	KIF20B	10	91514321	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	3253878	91514321	44020426	352	20087											
TNKS2	80351	broad.mit.edu	37	chr10	93622745	93622745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatgaggcctgaaggtatgGtcgatggataaatagttatt	12	3	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:93622745G>A	uc001khp.2	+	27	3787	c.3490G>A	c.(3490-3492)GTC>ATC	p.V1164I		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	1164	PARP catalytic.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				TGAAGGTATGGTCGATGGATA	0.323													A	93622745	G	A	93622745	3	1	21	1	0	0	0	0	1	0	0	0	16318	1261	44	4	3596	4	TNKS2	10	93622745	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	2108424	93622745	41912002	353	20088											
EXOC6	54536	broad.mit.edu	37	chr10	94654754	94654754	+	Frame_Shift_Del	DEL	A	A	-													aaatattacaactgtagtagAaaaattgcagttatgccttc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:94654753_94654753GA>G	uc010qnr.2	+	4	579	c.436_436GA>G	c.(436-438)gaafs	p.E146fs	EXOC6_uc001kie.3_Frame_Shift_Del_p.E125fs|EXOC6_uc001kif.4_Frame_Shift_Del_p.E130fs|EXOC6_uc001kig.3_Frame_Shift_Del_p.E130fs|EXOC6_uc009xub.3_Frame_Shift_Del_p.E130fs|EXOC6_uc009xuc.3_Frame_Shift_Del_p.E130fs	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.	130					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				AACTGTAGTAGAAAAATTGCA	0.308													-	94654754	A	-	94654754	7	5	21	1	0	1	0	1	0	0	0	0	5308	246	9	0	493	0	EXOC6	10	94654754	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	1032009	94654754	40879993	354	20089											
MYOF	26509	broad.mit.edu	37	chr10	95113648	95113648	+	Splice_Site	DEL	A	A	-													gatggtagatgtagactcctAaaaaaacaggataaagatta							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:95113647_95113647TA>T	uc001kin.3	-	32	3527	c.3404_splice	c.e32-1	p.R1135_splice	MYOF_uc001kio.3_Splice_Site_p.R1122_splice|MYOF_uc009xue.3_Splice_Site	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1135	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGTAGACTCCTAAAAAAACAG	0.343													-	95113648	A	-	95113648	8	5	21	1	0	1	0	1	0	0	1	0	10089	377	13	0		0	MYOF	10	95113648	Splice_Site	DEL	A	TCGA-BR-4363-01A-01D-1158-08	458894	95113648	40421099	355	20090											
SLIT1	6585	broad.mit.edu	37	chr10	98799862	98799862	+	Frame_Shift_Del	DEL	C	C	-													actgtgggcggggcaggcagCccccctcctcctggcctagg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:98799862delC	uc001kmw.2	-	21	2432	c.2180delG	c.(2179-2181)GGCfs	p.G727fs	SLIT1_uc009xvh.1_Frame_Shift_Del_p.G737fs	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	727	LRRNT 4.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGGCAGGCAGCCCCCCTCCTC	0.697													-	98799862	C	-	98799862	7	5	21	1	0	1	0	1	0	0	0	0	14739	739	26	0	2492	0	SLIT1	10	98799862	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	3686214	98799862	36734885	356	20091											
CRTAC1	55118	broad.mit.edu	37	chr10	99683148	99683148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacaacttgtcggtgtacGtggccacccctggagagagg	14	10	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:99683148G>A	uc001kou.1	-	4	787	c.431C>T	c.(430-432)ACG>ATG	p.T144M	CRTAC1_uc001kov.2_Missense_Mutation_p.T133M|CRTAC1_uc001kot.1_Translation_Start_Site	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	144	FG-GAP 2; atypical.					proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GTCGGTGTACGTGGCCACCCC	0.572													A	99683148	G	A	99683148	3	1	21	1	0	0	0	0	1	0	0	0	3896	1145	40	1	1602	1	CRTAC1	10	99683148	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	883286	99683148	35851599	357	20092											
SUFU	51684	broad.mit.edu	37	chr10	104356986	104356986	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgacctgagccggcccccCgaggatgacgaggacagccg	15	14	0	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:104356986C>T	uc001kvy.1	+	7	992	c.846C>T	c.(844-846)CCC>CCT	p.P282P	SUFU_uc001kvw.1_Silent_p.P282P|SUFU_uc001kvx.2_Silent_p.P282P|SUFU_uc009xxe.1_RNA|SUFU_uc009xxf.1_RNA	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	suppressor of fused	282					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			central_nervous_system(4)|skin(2)|breast(1)	7		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GCCGGCCCCCCGAGGATGACG	0.597			D|F|S		medulloblastoma	medulloblastoma			Medulloblastoma_associated_with_Germline_SUFU_Mutation		OREG0020482	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	104356986	C	T	104356986	2	4	21	1	0	0	0	0	0	0	0	1	15367	639	23	1		1	SUFU	10	104356986	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	4673838	104356986	31177761	358	20093											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362278	105362278	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggggtcaggttgctcGttctcatccagcaccaaata	10	12	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:105362278G>A	uc001kxj.1	-	14	2753	c.2613C>T	c.(2611-2613)AAC>AAT	p.N871N	SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Silent_p.N706N|SH3PXD2A_uc010qqt.1_Silent_p.N748N|SH3PXD2A_uc009xxn.1_Silent_p.N706N|SH3PXD2A_uc010qqu.1_Silent_p.N814N	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	899	SH3 4.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CAGGTTGCTCGTTCTCATCCA	0.607													A	105362278	G	A	105362278	2	1	21	1	0	0	0	0	0	0	0	1	14256	1136	40	1		1	SH3PXD2A	10	105362278	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1005292	105362278	30172469	359	20094											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105484098	105484099	+	Frame_Shift_Ins	INS	-	-	G													tcgtcacactgtgagatgtgINSggggggcagccggacaagtg					rs149867987		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:105484097_105484098T>TG	uc010qqu.1	-	2	185_186	c.118_119A>CA	c.(118-120)cacfs	p.H40fs	SH3PXD2A_uc001kxj.1_Frame_Shift_Ins_p.H110fs	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	110	PX.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CTGTGAGATGTGGGGGGGCAGC	0.535													G	105484099	-	G	105484098	7	5	21	1	0	1	1	0	0	0	0	0	14256	1348	47	0	3029	0	SH3PXD2A	10	105484098	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	121820	105484098	30050649	360	20095											
TCF7L2	6934	broad.mit.edu	37	chr10	114925622	114925622	+	Frame_Shift_Del	DEL	C	C	-													agccgctttgcagcctgccgCcccctcctcatcaattgcac							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:114925622delC	uc001lae.3	+	14	2207	c.1700delC	c.(1699-1701)GCCfs	p.A567fs	TCF7L2_uc001lac.3_Frame_Shift_Del_p.A561fs|TCF7L2_uc010qrk.1_3'UTR|TCF7L2_uc010qrl.1_Frame_Shift_Del_p.A544fs|TCF7L2_uc010qrm.1_3'UTR|TCF7L2_uc010qrn.1_3'UTR|TCF7L2_uc001lad.3_3'UTR|TCF7L2_uc001lag.3_3'UTR|TCF7L2_uc001laf.3_Frame_Shift_Del_p.A544fs|TCF7L2_uc010qro.1_3'UTR|TCF7L2_uc001lah.2_3'UTR|TCF7L2_uc010qrp.1_3'UTR|TCF7L2_uc010qrq.1_3'UTR|TCF7L2_uc010qrr.1_Frame_Shift_Del_p.A499fs|TCF7L2_uc010qrs.1_Frame_Shift_Del_p.A455fs|TCF7L2_uc010qrt.1_Frame_Shift_Del_p.A455fs|TCF7L2_uc010qru.1_3'UTR|TCF7L2_uc010qrv.1_3'UTR|TCF7L2_uc010qrw.1_3'UTR|TCF7L2_uc010qrx.1_3'UTR	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	584					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CAGCCTGCCGCCCCCTCCTCA	0.687													-	114925622	C	-	114925622	7	5	21	1	0	1	0	1	0	0	0	0	15695	739	26	0	2031	0	TCF7L2	10	114925622	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	9441524	114925622	20609125	361	20096											
NRAP	4892	broad.mit.edu	37	chr10	115364629	115364629	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtcgtctcttacactctgGggccctatgagtttccctcg	11	13	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:115364629G>T	uc001laj.2	-	35	4130	c.3966C>A	c.(3964-3966)CCC>CCA	p.P1322P	NRAP_uc009xyb.2_Silent_p.P111P|NRAP_uc001lak.2_Silent_p.P1287P|NRAP_uc001lal.3_Silent_p.P1322P	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1322	Nebulin 35.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTACACTCTGGGGCCCTATGA	0.577													T	115364629	G	T	115364629	2	4	21	1	0	0	0	0	0	0	0	1	10638	1219	43	5		5	NRAP	10	115364629	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	439007	115364629	20170118	362	20097											
RIC8A	60626	broad.mit.edu	37	chr11	212613	212613	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagggatggccacctccccAggtgctgccccctctgcggg	13	16	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:212613A>G	uc001log.2	+	7	1391	c.1066_splice	c.e7-2	p.V356_splice	RIC8A_uc001lof.2_Missense_Mutation_p.Q361R|RIC8A_uc001loh.2_Splice_Site_p.V349_splice	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	resistance to inhibitors of cholinesterase 8							cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity				0		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCACCTCCCCAGGTGCTGCCC	0.607													G	212613	A	G	212613	5	3	21	1	0	0	0	0	0	0	1	0	13355	188	7	3	1108	3	RIC8A	11	212613	Splice_Site	SNP	A	TCGA-BR-4363-01A-01D-1158-08		212613	134793903	363	20098											
PKP3	11187	broad.mit.edu	37	chr11	400055	400055	+	Frame_Shift_Del	DEL	C	C	-													ctcacagacctggtgttgagCcccctgtcgggggctggggg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:400055delC	uc001lpc.2	+	6	1438	c.1362delC	c.(1360-1362)AGCfs	p.S454fs		NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	plakophilin 3	454	ARM 4.				cell adhesion	desmosome|nucleus	binding			skin(1)	1		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGTGTTGAGCCCCCTGTCGG	0.657													-	400055	C	-	400055	7	5	21	1	0	1	0	1	0	0	0	0	11986	738	26	0	1384	0	PKP3	11	400055	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	187442	400055	134606461	364	20099											
ANO9	338440	broad.mit.edu	37	chr11	428612	428612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcggtagaccaccaggaCgtgggccatgccgatcatga	14	12	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:428612C>T	uc001lpi.2	-	13	1133	c.1048G>A	c.(1048-1050)GTC>ATC	p.V350I	ANO9_uc001lph.2_Missense_Mutation_p.V43I|ANO9_uc010qvv.1_Missense_Mutation_p.V206I	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	350	Helical; (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						ACCACCAGGACGTGGGCCATG	0.721													T	428612	C	T	428612	3	4	21	1	0	0	0	0	1	0	0	0	704	536	19	1	1344	1	ANO9	11	428612	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	28557	428612	134577904	365	20100											
BRSK2	9024	broad.mit.edu	37	chr11	1467138	1467139	+	Splice_Site	DEL	GT	GT	-													atggcccagcacggccagagGtgtgtgtgccccgaggctgc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:1467137_1467138GGT>G	uc001ltm.3	+	12	1617	c.1364_splice	c.e12+1	p.R455_splice	BRSK2_uc009ycv.1_Splice_Site_p.S409_splice|BRSK2_uc001lth.1_Splice_Site_p.R409_splice|BRSK2_uc001lti.3_Splice_Site_p.R409_splice|BRSK2_uc001ltl.3_Splice_Site_p.R409_splice|BRSK2_uc001ltj.3_Splice_Site_p.R409_splice|BRSK2_uc001ltk.3_Splice_Site|BRSK2_uc001ltn.3_Splice_Site|BRSK2_uc010qwx.2_Splice_Site	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA.	409	Pro-rich.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CACGGCCAGAGGTGTGTGTGCC	0.718													-	1467139	GT	-	1467138	8	5	21	1	0	1	0	1	0	0	1	0	1524	1275	44	0	1273	0	BRSK2	11	1467138	Splice_Site	DEL	GT	TCGA-BR-4363-01A-01D-1158-08	1038526	1467138	133539378	366	20101											
OR51G2	81282	broad.mit.edu	37	chr11	4936206	4936206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggaggcgatggacagcaCggtgcgcaggatcagagcat	16	10	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:4936206C>T	uc001lzr.1	-	1	688	c.688G>A	c.(688-690)GTG>ATG	p.V230M		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	230	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGACAGCACGGTGCGCAGG	0.522													T	4936206	C	T	4936206	3	4	21	1	0	0	0	0	1	0	0	0	11099	536	19	1	260	1	OR51G2	11	4936206	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	3469068	4936206	130070310	367	20102											
UBQLNL	143630	broad.mit.edu	37	chr11	5536466	5536466	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtctggagctacttagAgaaacagtggcatccttgta	11	8	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:5536466A>T	uc001maz.3	-	1	1491	c.1206T>A	c.(1204-1206)TCT>TCA	p.S402S	HBG2_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	402										large_intestine(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AGCTACTTAGAGAAACAGTGG	0.498													T	5536466	A	T	5536466	2	4	21	1	0	0	0	0	0	0	0	1	16897	291	11	5		5	UBQLNL	11	5536466	Silent	SNP	A	TCGA-BR-4363-01A-01D-1158-08	600260	5536466	129470050	368	20103											
CNGA4	1262	broad.mit.edu	37	chr11	6261463	6261463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgaaccgctttctccgcGcgccccgcctcttcgaggcc	11	19	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:6261463G>A	uc001mco.2	+	4	546	c.439G>A	c.(439-441)GCG>ACG	p.A147T	CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.A107T	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	147	Extracellular (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTTCTCCGCGCGCCCCGCCT	0.587													A	6261463	G	A	6261463	3	1	21	1	0	0	0	0	1	0	0	0	3599	1087	38	1	453	1	CNGA4	11	6261463	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	724997	6261463	128745053	369	20104											
ILK	3611	broad.mit.edu	37	chr11	6630785	6630785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccagtgctaggtgcctgCcagtctccacctgctcctca	8	18	2	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:6630785C>T	uc001mee.2	+	9	906	c.771C>T	c.(769-771)TGC>TGT	p.C257C	ILK_uc001mef.2_Silent_p.C257C|ILK_uc010rap.1_Silent_p.C123C|ILK_uc010raq.1_Silent_p.C196C|ILK_uc001meg.2_Silent_p.C103C|ILK_uc001meh.2_Silent_p.C257C|ILK_uc001mei.2_5'Flank	NM_001014794	NP_001014794	Q13418	ILK_HUMAN	integrin-linked kinase	257	Protein kinase.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		TAGGTGCCTGCCAGTCTCCAC	0.498													T	6630785	C	T	6630785	2	4	21	1	0	0	0	0	0	0	0	1	7713	747	26	2		2	ILK	11	6630785	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	369322	6630785	128375731	370	20105											
ZNF215	7762	broad.mit.edu	37	chr11	6953704	6953704	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggccccatgaagccctgagCcaactctgggagctctgtct	12	14	3	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:6953704C>A	uc001mey.2	+	3	789	c.201C>A	c.(199-201)AGC>AGA	p.S67R	ZNF215_uc010raw.1_Missense_Mutation_p.S67R|ZNF215_uc010rax.1_5'UTR|ZNF215_uc001mez.1_Missense_Mutation_p.S67R	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	zinc finger protein 215	67	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AAGCCCTGAGCCAACTCTGGG	0.483													A	6953704	C	A	6953704	3	1	21	1	0	0	0	0	1	0	0	0	17768	738	26	5	203	5	ZNF215	11	6953704	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	322919	6953704	128052812	371	20106											
MICALCL	84953	broad.mit.edu	37	chr11	12315408	12315408	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacaggagctggacagggCaagagctatctcccttggct	14	10	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:12315408C>T	uc001mkg.1	+	3	721	c.430C>T	c.(430-432)CAA>TAA	p.Q144*		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	144					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)		CTGGACAGGGCAAGAGCTATC	0.587													T	12315408	C	T	12315408	4	4	21	1	0	0	0	0	0	1	0	0	9572	711	25	2	436	2	MICALCL	11	12315408	Nonsense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	5361704	12315408	122691108	372	20107											
PAX6	5080	broad.mit.edu	37	chr11	31812317	31812317	+	Frame_Shift_Del	DEL	G	G	-													tcatgtgtgtctgcatatgtGggggggtgtaggtatcataa							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:31812316_31812316TG>T	uc009yjr.3	-	11	1594	c.1125_1125CA>A	c.(1123-1125)ccafs	p.P375fs	PAX6_uc001mtd.4_Frame_Shift_Del_p.P375fs|PAX6_uc001mte.4_Frame_Shift_Del_p.P375fs|PAX6_uc001mtg.4_Frame_Shift_Del_p.P389fs|PAX6_uc001mtf.4_Frame_Shift_Del_p.P375fs|PAX6_uc001mth.4_Frame_Shift_Del_p.P375fs|PAX6_uc021qfl.1_Frame_Shift_Del_p.P389fs|PAX6_uc021qfm.1_Frame_Shift_Del_p.P389fs	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGT	0.592									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				-	31812317	G	-	31812317	7	5	21	1	0	1	0	1	0	0	0	0	11483	1348	47	0	152	0	PAX6	11	31812317	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	19496909	31812317	103194199	373	20108											
FBXO3	26273	broad.mit.edu	37	chr11	33773099	33773099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctctgatgatggggaagCcacctgatacaacatttttg	11	8	1	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:33773099C>T	uc001muz.2	-	7	807	c.779G>A	c.(778-780)GGC>GAC	p.G260D	FBXO3_uc010rej.1_5'UTR|FBXO3_uc001muy.2_Missense_Mutation_p.G147D|FBXO3_uc009ykb.2_RNA|FBXO3_uc001mva.1_Missense_Mutation_p.G260D|FBXO3_uc001mvb.1_Missense_Mutation_p.G255D|FBXO3_uc010rek.1_RNA	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	F-box only protein 3 isoform 1	260					proteolysis	nucleus	ubiquitin-protein ligase activity			pancreas(1)	1		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		GATGGGGAAGCCACCTGATAC	0.328													T	33773099	C	T	33773099	3	4	21	1	0	0	0	0	1	0	0	0	5739	739	26	2	665	2	FBXO3	11	33773099	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1960782	33773099	101233417	374	20109											
CAT	847	broad.mit.edu	37	chr11	34485651	34485651	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtggttttgttttgaaGgtggtgctccaaattactac	12	6	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:34485651G>T	uc001mvm.2	+	10	1279	c.1196_splice	c.e10-1	p.G399_splice	CAT_uc009ykc.1_Splice_Site|CAT_uc001mvn.2_Splice_Site_p.G8_splice	NM_001752	NP_001743	P04040	CATA_HUMAN	catalase						hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TTGTTTTGAAGGTGGTGCTCC	0.423													T	34485651	G	T	34485651	5	4	21	1	0	0	0	0	0	0	1	0	2686	1014	35	5	1233	5	CAT	11	34485651	Splice_Site	SNP	G	TCGA-BR-4363-01A-01D-1158-08	712552	34485651	100520865	375	20110											
CHST1	8534	broad.mit.edu	37	chr11	45671729	45671729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgccagagccggtacgtgtCgcggaaggtctcgctgcgcg	16	14	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:45671729C>T	uc001mys.1	-	4	1416	c.745G>A	c.(745-747)GAC>AAC	p.D249N		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	249	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CGGTACGTGTCGCGGAAGGTC	0.647													T	45671729	C	T	45671729	3	4	21	1	0	0	0	0	1	0	0	0	3397	884	31	1	494	1	CHST1	11	45671729	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	11186078	45671729	89334787	376	20111											
PHF21A	51317	broad.mit.edu	37	chr11	45955607	45955607	+	Frame_Shift_Del	DEL	G	G	-													tggaggtggcggcattggcaGggggggtgcagtccgggcca							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:45955606_45955606AG>A	uc001ncc.4	-	17	2580	c.1956_1956CT>T	c.(1954-1956)cctfs	p.P652fs	PHF21A_uc001ncb.4_Frame_Shift_Del_p.P606fs|PHF21A_uc009ykx.3_Frame_Shift_Del_p.P606fs|PHF21A_uc001nca.1_3'UTR	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA.	652	Required for transcriptional repression.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CGGCATTGGCAGGGGGGGTGC	0.617													-	45955607	G	-	45955607	7	5	21	1	0	1	0	1	0	0	0	0	11833	1000	35	0	91	0	PHF21A	11	45955607	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	283878	45955607	89050909	377	20112											
CKAP5	9793	broad.mit.edu	37	chr11	46842731	46842731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaagaatcttaccttgtGttcacatttctgatcaactg	6	10	4	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:46842731G>A	uc001ndi.1	-	2	162	c.52C>T	c.(52-54)CAC>TAC	p.H18Y	CKAP5_uc009ylg.1_5'Flank|CKAP5_uc001ndj.1_Missense_Mutation_p.H18Y	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	18					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						CTTACCTTGTGTTCACATTTC	0.388													A	46842731	G	A	46842731	3	1	21	1	0	0	0	0	1	0	0	0	3445	1377	48	4	6218	4	CKAP5	11	46842731	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	887124	46842731	88163785	378	20113											
PSMC3	5702	broad.mit.edu	37	chr11	47440696	47440696	+	Frame_Shift_Del	DEL	C	C	-													acacacagccttgcactgggCcccattgaagtcatctgtgc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:47440695_47440695GC>G	uc001nfh.2	-	10	1375	c.1181_1181GC>C	c.(1180-1182)gccfs	p.A394fs		NM_002804	NP_002795	P17980	PRS6A_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 3 (PSMC3), mRNA.	394					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity	p.G393E(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTTGCACTGGGCCCCATTGAA	0.607													-	47440696	C	-	47440696	7	5	21	1	0	1	0	1	0	0	0	0	12687	739	26	0	147	0	PSMC3	11	47440696	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	597965	47440696	87565820	379	20114											
KBTBD4	55709	broad.mit.edu	37	chr11	47599113	47599113	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccacatcacctgaaggcAgtttcccacttgcactgtgc	8	15	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:47599113A>G	uc001nfx.2	-	2	610	c.439T>C	c.(439-441)TGC>CGC	p.C147R	NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Missense_Mutation_p.C172R|KBTBD4_uc001nfz.2_Missense_Mutation_p.C163R|KBTBD4_uc001nfy.2_Missense_Mutation_p.C147R|NDUFS3_uc010rhn.1_5'Flank|NDUFS3_uc001nga.2_5'Flank	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	147	BACK.									ovary(1)|central_nervous_system(1)	2						ACCTGAAGGCAGTTTCCCACT	0.532													G	47599113	A	G	47599113	3	3	21	1	0	0	0	0	1	0	0	0	7995	188	7	3	1129	3	KBTBD4	11	47599113	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	158417	47599113	87407403	380	20115											
FIBP	9158	broad.mit.edu	37	chr11	65653077	65653077	+	Frame_Shift_Del	DEL	T	T	-													ccgaagctcagatactgcagTtttttcttccctgtctcaaa							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:65653077delT	uc001ogd.2	-	5	691	c.570delA	c.(568-570)AAAfs	p.K190fs	FIBP_uc009yqu.2_Frame_Shift_Del_p.K187fs|FIBP_uc001oge.2_Frame_Shift_Del_p.K190fs	NM_198897	NP_942600	O43427	FIBP_HUMAN	FGF intracellular binding protein isoform a	190					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.166)		GATACTGCAGTTTTTTCTTCC	0.537											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	65653077	T	-	65653077	7	5	21	1	0	1	0	1	0	0	0	0	5886	1722	60	0	548	0	FIBP	11	65653077	Frame_Shift_Del	DEL	T	TCGA-BR-4363-01A-01D-1158-08	18053964	65653077	69353439	381	20116											
KDM2A	22992	broad.mit.edu	37	chr11	67021880	67021880	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctactctctcacagagctcAatatggcaggtatgccgcta	9	12	3	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:67021880A>G	uc001ojw.2	+	20	4162	c.3298A>G	c.(3298-3300)AAT>GAT	p.N1100D	KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.N794D|KDM2A_uc001ojz.1_Missense_Mutation_p.N558D|KDM2A_uc001oka.2_Missense_Mutation_p.N224D	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	1100	LRR 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						CACAGAGCTCAATATGGCAGG	0.537													G	67021880	A	G	67021880	3	3	21	1	0	0	0	0	1	0	0	0	8124	130	5	3	3372	3	KDM2A	11	67021880	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	1368803	67021880	67984636	382	20117											
MRGPRD	116512	broad.mit.edu	37	chr11	68747740	68747740	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtagagcacaaaccagtagAtgctcagaggcagggaacag	13	8	1	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:68747740A>G	uc010rqf.1	-	1	716	c.716T>C	c.(715-717)ATC>ACC	p.I239T		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	239	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(1)	1			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AAACCAGTAGATGCTCAGAGG	0.627													G	68747740	A	G	68747740	3	3	21	1	0	0	0	0	1	0	0	0	9763	333	12	3	252	3	MRGPRD	11	68747740	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	1725860	68747740	66258776	383	20118											
CCND1	595	broad.mit.edu	37	chr11	69465973	69465973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacatggaccccaaggccGccgaggaggaggaagaggag	17	9	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:69465973G>A	uc001opa.2	+	5	1020	c.811G>A	c.(811-813)GCC>ACC	p.A271T		NM_053056	NP_444284	P24385	CCND1_HUMAN	cyclin D1	271					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			ovary(1)|lung(1)	2	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	CCCCAAGGCCGCCgaggagga	0.582			T	IGH@|FSTL3	CLL|B-ALL|breast					Multiple Myeloma(6;0.086)			A	69465973	G	A	69465973	3	1	21	1	0	0	0	0	1	0	0	0	2916	1087	38	1	829	1	CCND1	11	69465973	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	718233	69465973	65540543	384	20119											
INPPL1	3636	broad.mit.edu	37	chr11	71948748	71948748	+	Frame_Shift_Del	DEL	C	C	-													caggccccctggagctgcagCccccccggggactgccctcg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:71948748delC	uc001osf.2	+	26	3607	c.3460delC	c.(3460-3462)CCCfs	p.P1154fs	INPPL1_uc001osg.2_Frame_Shift_Del_p.P912fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1154					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						GGAGCTGCAGCCCCCCCGGGG	0.697													-	71948748	C	-	71948748	7	5	21	1	0	1	0	1	0	0	0	0	7761	739	26	0	3562	0	INPPL1	11	71948748	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	2482775	71948748	63057768	385	20120											
CHRDL2	25884	broad.mit.edu	37	chr11	74421903	74421903	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagttcttactgtgcagctGcagaggacacactggttggg	15	8	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:74421903G>A	uc001ovi.2	-	4	676	c.423C>T	c.(421-423)TGC>TGT	p.C141C	CHRDL2_uc001ovg.2_Silent_p.C25C|CHRDL2_uc001ovh.2_Silent_p.C141C|CHRDL2_uc001ovk.1_Silent_p.C141C			Q6WN34	CRDL2_HUMAN	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;	141	VWFC 2.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion					0	Hepatocellular(1;0.098)					CTGTGCAGCTGCAGAGGACAC	0.587													A	74421903	G	A	74421903	2	1	21	1	0	0	0	0	0	0	0	1	3374	1311	46	2		2	CHRDL2	11	74421903	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	2473155	74421903	60584613	386	20121											
UVRAG	7405	broad.mit.edu	37	chr11	75694509	75694509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagaagaaagctttgggaCgggaggtggcattactgcat	16	6	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:75694509C>T	uc001oxc.2	+	8	1019	c.778C>T	c.(778-780)CGG>TGG	p.R260W	UVRAG_uc010rrw.1_Missense_Mutation_p.R159W|UVRAG_uc001oxd.2_Translation_Start_Site|UVRAG_uc010rrx.1_Translation_Start_Site|UVRAG_uc009yuh.1_RNA	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	260	Potential.				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			skin(4)|lung(2)	6						AGCTTTGGGACGGGAGGTGGC	0.388													T	75694509	C	T	75694509	3	4	21	1	0	0	0	0	1	0	0	0	17105	527	19	1	808	1	UVRAG	11	75694509	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1272606	75694509	59312007	387	20122											
WNT11	7481	broad.mit.edu	37	chr11	75907667	75907667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgagctccaggttgctgCggcacagctgcacctgtgca	13	13	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:75907667C>T	uc001oxe.2	-	2	302	c.179G>A	c.(178-180)CGC>CAC	p.R60H	WNT11_uc001oxf.1_Missense_Mutation_p.R60H	NM_004626	NP_004617	O96014	WNT11_HUMAN	wingless-type MMTV integration site family,	60					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			lung(1)|skin(1)	2						CAGGTTGCTGCGGCACAGCTG	0.652													T	75907667	C	T	75907667	3	4	21	1	0	0	0	0	1	0	0	0	17381	768	27	1	901	1	WNT11	11	75907667	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	213158	75907667	59098849	388	20123											
PCF11	51585	broad.mit.edu	37	chr11	82877632	82877632	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaaagactgaagaggagCgaccacaagaaactacaaat	9	7	0	5			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:82877632C>T	uc001ozx.3	+	5	2038	c.1693C>T	c.(1693-1695)CGA>TGA	p.R565*	PCF11_uc010rsu.1_Nonsense_Mutation_p.R565*	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	565					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						TGAAGAGGAGCGACCACAAGA	0.423													T	82877632	C	T	82877632	4	4	21	1	0	0	0	0	0	1	0	0	11573	760	27	1	1711	1	PCF11	11	82877632	Nonsense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	6969965	82877632	52128884	389	20124											
C11orf73	51501	broad.mit.edu	37	chr11	86017511	86017511	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgccatcttcaaaatttcAggtcttaaatctggtaagaa	7	7	5	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:86017511A>G	uc001pbu.2	+	2	493	c.255A>G	c.(253-255)TCA>TCG	p.S85S	C11orf73_uc001pbt.2_Silent_p.S85S|C11orf73_uc010rto.1_Intron|C11orf73_uc010rtp.1_Intron|C11orf73_uc001pbv.2_RNA	NM_016401	NP_057485	Q53FT3	CK073_HUMAN	lethal, Chr 7, Rinchik 6	85						cytoplasm					0		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)				TCAAAATTTCAGGTCTTAAAT	0.323													G	86017511	A	G	86017511	2	3	21	1	0	0	0	0	0	0	0	1	1661	175	7	3		3	C11orf73	11	86017511	Silent	SNP	A	TCGA-BR-4363-01A-01D-1158-08	3139879	86017511	48989005	390	20125											
FAT3	120114	broad.mit.edu	37	chr11	92616283	92616283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtggggacggccgcaacGtctaccaggaggtggggccc	18	12	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:92616283G>A	uc001pdj.3	+	23	12678	c.12661G>A	c.(12661-12663)GTC>ATC	p.V4221I	FAT3_uc001pdi.3_Missense_Mutation_p.V661I	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4221	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGGCCGCAACGTCTACCAGGA	0.652										TCGA Ovarian(4;0.039)			A	92616283	G	A	92616283	3	1	21	1	0	0	0	0	1	0	0	0	5691	1145	40	1	12751	1	FAT3	11	92616283	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	6598772	92616283	42390233	391	20126											
MTNR1B	4544	broad.mit.edu	37	chr11	92702954	92702954	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgggcagtgcgcccgggCtggtcgggggctggcagcgc	23	11	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:92702954C>T	uc001pdk.1	+	1	166	c.63C>T	c.(61-63)GGC>GGT	p.G21G		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	21	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	TGCGCCCGGGCTGGTCGGGGG	0.736													T	92702954	C	T	92702954	2	4	21	1	0	0	0	0	0	0	0	1	9952	784	28	2		2	MTNR1B	11	92702954	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	86671	92702954	42303562	392	20127											
C11orf54	28970	broad.mit.edu	37	chr11	93494832	93494832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgatcaaccaaaagagaCgcattcaattgggcgagatt	9	8	2	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:93494832C>T	uc009ywi.2	+	10	1257	c.926C>T	c.(925-927)ACG>ATG	p.T309M	C11orf54_uc001pef.2_Missense_Mutation_p.T259M|C11orf54_uc001peg.2_Missense_Mutation_p.T309M|C11orf54_uc001peh.2_Missense_Mutation_p.T309M|C11orf54_uc001pei.2_Missense_Mutation_p.T290M|C11orf54_uc001pej.2_Missense_Mutation_p.T290M|C11orf54_uc001pek.2_Missense_Mutation_p.T198M	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN	hypothetical protein LOC28970	309						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding				0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCAAAAGAGACGCATTCAATT	0.294													T	93494832	C	T	93494832	3	4	21	1	0	0	0	0	1	0	0	0	1649	536	19	1	802	1	C11orf54	11	93494832	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	791878	93494832	41511684	393	20128											
SESN3	143686	broad.mit.edu	37	chr11	94922973	94922973	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttttgtgatcagccaaggTcgatgtgctagcagcttatt	10	8	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:94922973T>C	uc001pfk.1	-	4	717	c.495A>G	c.(493-495)CGA>CGG	p.R165R	SESN3_uc010rug.1_Intron|SESN3_uc001pfl.2_Silent_p.R165R	NM_144665	NP_653266	P58005	SESN3_HUMAN	sestrin 3	165					cell cycle arrest	nucleus					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TCAGCCAAGGTCGATGTGCTA	0.333													C	94922973	T	C	94922973	2	2	21	1	0	0	0	0	0	0	0	1	14126	1654	58	3		3	SESN3	11	94922973	Silent	SNP	T	TCGA-BR-4363-01A-01D-1158-08	1428141	94922973	40083543	394	20129											
PGR	5241	broad.mit.edu	37	chr11	100999546	100999546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttcagctctggaatatgCgccctccacgtccgacagcg	10	15	2	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:100999546C>T	uc001pgh.2	-	1	999	c.256G>A	c.(256-258)GCA>ACA	p.A86T	PGR_uc001pgi.2_Missense_Mutation_p.A86T|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	86	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CTGGAATATGCGCCCTCCACG	0.602													T	100999546	C	T	100999546	3	4	21	1	0	0	0	0	1	0	0	0	11805	768	27	1	2577	1	PGR	11	100999546	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	6076573	100999546	34006970	395	20130											
MMP3	4314	broad.mit.edu	37	chr11	102713563	102713563	+	Frame_Shift_Del	DEL	T	T	-													gaacttctgcatttctcggaTttttttaacaacaggaccac							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:102713563delT	uc001phj.1	-	2	255	c.190delA	c.(190-192)ATCfs	p.I64fs		NM_002422	NP_002413	P08254	MMP3_HUMAN	matrix metalloproteinase 3 preproprotein	64					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			lung(1)|kidney(1)	2		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	ATTTCTCGGATTTTTTTAACA	0.438													-	102713563	T	-	102713563	7	5	21	1	0	1	0	1	0	0	0	0	9666	1493	52	0	1279	0	MMP3	11	102713563	Frame_Shift_Del	DEL	T	TCGA-BR-4363-01A-01D-1158-08	1714017	102713563	32292953	396	20131											
C11orf53	341032	broad.mit.edu	37	chr11	111154907	111154907	+	Frame_Shift_Del	DEL	G	G	-													gacgtctacacctccagcgtGgggaagccgtttccctgtga							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:111154906_111154906TG>T	uc001plc.3	+	2	260	c.113_113TG>T	c.(112-114)gtgfs	p.V38fs		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	38										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		ACCTCCAGCGTGGGGAAGCCG	0.567											OREG0021325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	111154907	G	-	111154907	7	5	21	1	0	1	0	1	0	0	0	0	1648	1335	47	0	120	0	C11orf53	11	111154907	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	8441344	111154907	23851609	397	20132											
ZW10	9183	broad.mit.edu	37	chr11	113629418	113629418	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtaggtaagattccaaActgctggtatctaagaaaaa	9	5	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:113629418A>C	uc001poe.2	-	6	628	c.591T>G	c.(589-591)AGT>AGG	p.S197R	ZW10_uc009yyv.2_RNA	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	197	Interaction with RINT1.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AAGATTCCAAACTGCTGGTAT	0.403													C	113629418	A	C	113629418	3	2	21	1	0	0	0	0	1	0	0	0	18244	40	2	5	1792	5	ZW10	11	113629418	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	2474511	113629418	21377098	398	20133											
C11orf71	54494	broad.mit.edu	37	chr11	114270731	114270731	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctaatgcaatcaaacgcTgttgcagcacacttcttagg	7	12	2	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:114270731T>G	uc001pou.3	-	1	525	c.323A>C	c.(322-324)CAG>CCG	p.Q108P	C11orf71_uc001pot.1_Missense_Mutation_p.Q108P|RBM7_uc001pov.2_5'Flank|RBM7_uc001pow.2_5'Flank|RBM7_uc001pox.2_5'Flank	NM_019021	NP_061894	Q6IPW1	CK071_HUMAN	hypothetical protein LOC54494	108											0		all_cancers(61;1.15e-11)|all_epithelial(67;5.3e-06)|all_hematologic(158;0.000303)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.6e-06)|Epithelial(105;4.31e-05)|all cancers(92;0.00036)		AATCAAACGCTGTTGCAGCAC	0.517													G	114270731	T	G	114270731	3	3	21	1	0	0	0	0	1	0	0	0	1660	1580	55	5	128	5	C11orf71	11	114270731	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	641313	114270731	20735785	399	20134											
DSCAML1	57453	broad.mit.edu	37	chr11	117389265	117389265	+	Frame_Shift_Del	DEL	G	G	-													cacgcccccgtcgcggatctGggggcctgtgacgttcatgt							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:117389264_117389264TG>T	uc001prh.1	-	6	1609	c.1607_1607CA>A	c.(1606-1608)cagfs	p.Q536fs	DSCAML1_uc001pri.1_Frame_Shift_Del_p.Q340fs	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	476	Ig-like C2-type 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTCGCGGATCTGGGGGCCTGT	0.602													-	117389265	G	-	117389265	7	5	21	1	0	1	0	1	0	0	0	0	4769	1357	47	0	4843	0	DSCAML1	11	117389265	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	3118534	117389265	17617251	400	20135											
ROBO4	54538	broad.mit.edu	37	chr11	124767016	124767016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggcaccatgctcaggGgctgcccattcagcaaccag	13	14	2	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:124767016G>A	uc001qbg.2	-	2	352	c.212C>T	c.(211-213)CCC>CTC	p.P71L	ROBO4_uc010sas.1_Intron|ROBO4_uc001qbh.2_Intron|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	71	Ig-like C2-type 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CATGCTCAGGGGCTGCCCATT	0.687													A	124767016	G	A	124767016	3	1	21	1	0	0	0	0	1	0	0	0	13516	1232	43	4	2879	4	ROBO4	11	124767016	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	7377751	124767016	10239500	401	20136											
STT3A	3703	broad.mit.edu	37	chr11	125472795	125472797	+	In_Frame_Del	DEL	CTC	CTC	-													gtgttcctggcccctctcttCtcctccttcaccaccatcgt							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:125472794_125472796TCTC>T	uc001qcd.2	+	4	478_480	c.368_370TCTC>T	c.(367-372)ttctcc>tTcc	p.S125del	STT3A_uc009zbm.2_In_Frame_Del_p.S125del|STT3A_uc001qce.2_In_Frame_Del_p.S125del|STT3A_uc010sbg.1_In_Frame_Del_p.S33del	NM_152713	NP_689926	P46977	STT3A_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) (STT3A), mRNA.	125					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		GCCCCTCTCTTCTCCTCCTTCAC	0.483													-	125472797	CTC	-	125472795	7	5	21	1	0	1	0	1	0	0	0	0	15332	912	32	0	383	0	STT3A	11	125472795	In_Frame_Del	DEL	CTC	TCGA-BR-4363-01A-01D-1158-08	705779	125472795	9533721	402	20137											
ST3GAL4	6484	broad.mit.edu	37	chr11	126277512	126277512	+	Frame_Shift_Del	DEL	C	C	-													gccatcaccagctcctccatCcccaagaacatccagaggta							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:126277511_126277511TC>T	uc001qdx.1	+	3	307	c.290_290TC>T	c.(289-291)atcfs	p.I97fs	ST3GAL4_uc001qds.3_Frame_Shift_Del_p.I108fs|ST3GAL4_uc001qdu.3_Frame_Shift_Del_p.I104fs|ST3GAL4_uc021qry.1_Frame_Shift_Del_p.I108fs|ST3GAL4_uc009zce.3_Frame_Shift_Del_p.I104fs|ST3GAL4_uc001qdw.3_Frame_Shift_Del_p.I107fs|ST3GAL4_uc001qdz.3_5'UTR			Q11206	SIA4C_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 4 (ST3GAL4), transcript variant 3, mRNA.	108					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		AGCTCCTCCATCCCCAAGAAC	0.607													-	126277512	C	-	126277512	7	5	21	1	0	1	0	1	0	0	0	0	15216	845	30	0	330	0	ST3GAL4	11	126277512	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	804717	126277512	8729004	403	20138											
TMEM45B	120224	broad.mit.edu	37	chr11	129724691	129724691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggacagactggttatggCtgtggcagtattcatggaag	16	5	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:129724691C>T	uc001qfe.1	+	3	426	c.365C>T	c.(364-366)GCT>GTT	p.A122V	TMEM45B_uc001qff.1_Missense_Mutation_p.A122V	NM_138788	NP_620143	Q96B21	TM45B_HUMAN	transmembrane protein 45B	122	Helical; (Potential).					integral to membrane					0	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		CTGGTTATGGCTGTGGCAGTA	0.458													T	129724691	C	T	129724691	3	4	21	1	0	0	0	0	1	0	0	0	16167	797	28	2	371	2	TMEM45B	11	129724691	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	3447179	129724691	5281825	404	20139											
PRDM10	56980	broad.mit.edu	37	chr11	129772249	129772250	+	In_Frame_Ins	INS	-	-	TGG													tcgctgcttccgttcccgttINSggtggtggtggtgatgatgt							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:129772248_129772249T>TTGG	uc001qfm.3	-	21	3674_3675	c.3442_3443A>CCAA	c.(3442-3444)aac>CCAAc	p.N1148P	PRDM10_uc001qfj.3_In_Frame_Ins_p.N1049P|PRDM10_uc001qfk.3_In_Frame_Ins_p.N1011P|PRDM10_uc001qfl.3_In_Frame_Ins_p.N1062P|PRDM10_uc010sbx.2_In_Frame_Ins_p.N1058P|PRDM10_uc001qfn.3_In_Frame_Ins_p.N1144P	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	1135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TCCGTTCCCGTTGGTGGTGGTG	0.55													TGG	129772250	-	TGG	129772249	7	5	21	1	0	1	1	0	0	0	0	0	12451	1812	63	0	44	0	PRDM10	11	129772249	In_Frame_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	47558	129772249	5234267	405	20140											
B4GALNT3	283358	broad.mit.edu	37	chr12	661272	661272	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatgactatacccgcctgaGccacatggagacccacaata	7	14	0	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:661272G>T	uc001qii.1	+	12	1151	c.1151G>T	c.(1150-1152)AGC>ATC	p.S384I	B4GALNT3_uc001qij.1_Missense_Mutation_p.S286I|B4GALNT3_uc001qik.1_5'Flank	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	384	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ACCCGCCTGAGCCACATGGAG	0.483													T	661272	G	T	661272	3	4	21	1	0	0	0	0	1	0	0	0	1268	971	34	5	1197	5	B4GALNT3	12	661272	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08		661272	133190623	406	20141											
CACNA1C	775	broad.mit.edu	37	chr12	2714935	2714935	+	Frame_Shift_Del	DEL	G	G	-													agttcatgtttgcctgcatcGgggtccagctcttcaaggta							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:2714934_2714934CG>C	uc009zdu.1	+	24	3511	c.3198_3198CG>C	c.(3196-3198)atcfs	p.I1066fs	CACNA1C_uc001qkc.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qjz.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qkd.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qke.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qkf.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc009zdw.1_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qkg.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qkh.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qkl.2_Frame_Shift_Del_p.I1066fs|CACNA1C_uc001qkj.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qkk.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qkn.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qkm.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qko.2_Frame_Shift_Del_p.I1066fs|CACNA1C_uc001qkp.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qkq.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qku.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qkr.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qks.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qkt.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc009zdv.1_Frame_Shift_Del_p.I1043fs|CACNA1C_uc001qkb.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qka.1_Frame_Shift_Del_p.I581fs|CACNA1C_uc001qki.1_Frame_Shift_Del_p.I782fs	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1066					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TTGCCTGCATCGGGGTCCAGC	0.552													-	2714935	G	-	2714935	7	5	21	1	0	1	0	1	0	0	0	0	2540	1116	39	0	3405	0	CACNA1C	12	2714935	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	2053663	2714935	131136960	407	20142											
TEAD4	7004	broad.mit.edu	37	chr12	3104142	3104142	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaaaatcatcctgtcggaCgagggcaagatgtatggtaa	12	8	1	1	rs148965461	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:3104142C>T	uc010sej.1	+	3	484	c.207C>T	c.(205-207)GAC>GAT	p.D69D	TEAD4_uc010sek.1_Silent_p.D69D|TEAD4_uc001qln.2_Intron	NM_003213	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4 isoform 1	70	TEA.				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			TCCTGTCGGACGAGGGCAAGA	0.627													T	3104142	C	T	3104142	2	4	21	1	0	0	0	0	0	0	0	1	15738	535	19	1		1	TEAD4	12	3104142	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	389207	3104142	130747753	408	20143											
NDUFA9	4704	broad.mit.edu	37	chr12	4778941	4778941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaggaattgttaatgcagTtaaggatcctgatgccaatg	10	6	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:4778941T>C	uc001qnc.2	+	8	768	c.758T>C	c.(757-759)GTT>GCT	p.V253A	NDUFA9_uc010ses.1_Missense_Mutation_p.V34A	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	253					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	GTTAATGCAGTTAAGGATCCT	0.333													C	4778941	T	C	4778941	3	2	21	1	0	0	0	0	1	0	0	0	10272	1725	60	3	788	3	NDUFA9	12	4778941	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	1674799	4778941	129072954	409	20144											
KCNA6	3742	broad.mit.edu	37	chr12	4919240	4919240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatcccttacgctggcggcGccgggggaggtccgtgggcc	17	13	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:4919240G>A	uc001qng.2	+	1	899	c.33G>A	c.(31-33)GCG>GCA	p.A11A		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	11						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						CGCTGGCGGCGCCGGGGGAGG	0.711										HNSCC(72;0.22)			A	4919240	G	A	4919240	2	1	21	1	0	0	0	0	0	0	0	1	8007	1074	38	1		1	KCNA6	12	4919240	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	140299	4919240	128932655	410	20145											
CHD4	1108	broad.mit.edu	37	chr12	6701626	6701626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcatgttcttgaacacatCggctttgagccgccgcaaca	11	12	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:6701626C>T	uc001qpo.2	-	19	3045	c.2881G>A	c.(2881-2883)GAT>AAT	p.D961N	CHD4_uc001qpn.2_Missense_Mutation_p.D954N|CHD4_uc001qpp.2_Missense_Mutation_p.D958N	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	961					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTGAACACATCGGCTTTGAGC	0.507													T	6701626	C	T	6701626	3	4	21	1	0	0	0	0	1	0	0	0	3327	884	31	1	2945	1	CHD4	12	6701626	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1782386	6701626	127150269	411	20146											
PZP	5858	broad.mit.edu	37	chr12	9301589	9301589	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaacatttccatgctctgtAtctatggagaaaagaaaaac	6	8	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:9301589A>G	uc001qvl.2	-	36	4457	c.4428T>C	c.(4426-4428)GAT>GAC	p.D1476D	PZP_uc009zgl.2_Silent_p.D1262D	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						CATGCTCTGTATCTATGGAGA	0.373													G	9301589	A	G	9301589	2	3	21	1	0	0	0	0	0	0	0	1	12869	463	16	3		3	PZP	12	9301589	Silent	SNP	A	TCGA-BR-4363-01A-01D-1158-08	2599963	9301589	124550306	412	20147											
SOX5	6660	broad.mit.edu	37	chr12	23689454	23689454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttgtattcaccaatgcGcagctttttgccatccacca	6	14	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:23689454G>A	uc001rfw.2	-	14	2023	c.1921C>T	c.(1921-1923)CGC>TGC	p.R641C	SOX5_uc001rfx.2_Missense_Mutation_p.R628C|SOX5_uc001rfy.2_Missense_Mutation_p.R520C|SOX5_uc001rfv.2_Missense_Mutation_p.R255C|SOX5_uc010siv.1_Missense_Mutation_p.R628C|SOX5_uc010siw.1_RNA	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	641					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						TCACCAATGCGCAGCTTTTTG	0.522													A	23689454	G	A	23689454	3	1	21	1	0	0	0	0	1	0	0	0	14954	1087	38	1	378	1	SOX5	12	23689454	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	14387865	23689454	110162441	413	20148											
FAR2	55711	broad.mit.edu	37	chr12	29469849	29469849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaatgctaattttaccaGcaacagcttcacatcacagt	5	12	2	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:29469849G>A	uc001ris.3	+	9	1178	c.1031G>A	c.(1030-1032)AGC>AAC	p.S344N	FAR2_uc001rit.2_Missense_Mutation_p.S344N|FAR2_uc009zjm.2_Missense_Mutation_p.S247N|uc001riu.1_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	344					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0						AATTTTACCAGCAACAGCTTC	0.488													A	29469849	G	A	29469849	3	1	21	1	0	0	0	0	1	0	0	0	5675	971	34	2	1061	2	FAR2	12	29469849	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	5780395	29469849	104382046	414	20149											
PUS7L	83448	broad.mit.edu	37	chr12	44148200	44148200	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttcccacgtttgtgtgcTttttcccgaaatcttactgt	6	11	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:44148200T>C	uc001rnq.3	-	2	1338	c.849A>G	c.(847-849)AAA>AAG	p.K283K	PUS7L_uc001rnr.3_Silent_p.K283K|PUS7L_uc001rns.3_Silent_p.K283K|PUS7L_uc009zkb.2_Intron	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S.	283					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			pancreas(1)	1	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GTTTGTGTGCTTTTTCCCGAA	0.353													C	44148200	T	C	44148200	2	2	21	1	0	0	0	0	0	0	0	1	12834	1606	56	3		3	PUS7L	12	44148200	Silent	SNP	T	TCGA-BR-4363-01A-01D-1158-08	14678351	44148200	89703695	415	20150											
ARID2	196528	broad.mit.edu	37	chr12	46285639	46285639	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatgtatatccagggcagTgtctttgggaaggttgtgag	15	4	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:46285639T>C	uc001ros.1	+	17	4999	c.4999T>C	c.(4999-5001)TGT>CGT	p.C1667R	ARID2_uc001ror.2_Missense_Mutation_p.C1667R|ARID2_uc009zkg.1_Missense_Mutation_p.C1123R|ARID2_uc009zkh.1_Missense_Mutation_p.C1294R|ARID2_uc001rou.1_Missense_Mutation_p.C1001R	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1667					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCCAGGGCAGTGTCTTTGGGA	0.393													C	46285639	T	C	46285639	3	2	21	1	0	0	0	0	1	0	0	0	915	1696	59	3	5065	3	ARID2	12	46285639	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	2137439	46285639	87566256	416	20151											
HDAC7	51564	broad.mit.edu	37	chr12	48185439	48185439	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagaggagcacgtgccgctcAgagtggaccgactgcagctc	14	12	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:48185439A>G	uc010slo.1	-	15	2058	c.1863T>C	c.(1861-1863)TCT>TCC	p.S621S	HDAC7_uc009zku.2_RNA|HDAC7_uc001rqe.2_Silent_p.S55S|HDAC7_uc001rqj.3_Silent_p.S584S|HDAC7_uc001rqk.3_Silent_p.S604S	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7 isoform a	582	Histone deacetylase.				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		CGTGCCGCTCAGAGTGGACCG	0.637													G	48185439	A	G	48185439	2	3	21	1	0	0	0	0	0	0	0	1	7012	175	7	3		3	HDAC7	12	48185439	Silent	SNP	A	TCGA-BR-4363-01A-01D-1158-08	1899800	48185439	85666456	417	20152											
MLL2	8085	broad.mit.edu	37	chr12	49438211	49438211	+	Frame_Shift_Del	DEL	T	T	-													cgatatggtttacgcttgcgTtttttgctttcctcggtctc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:49438210_49438210GT>G	uc001rta.4	-	19	5059	c.5059_5059AC>C	c.(5059-5061)cgcfs	p.R1687fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1687					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TTACGCTTGCGTTTTTTGCTT	0.597			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)	OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	49438211	T	-	49438211	7	5	21	1	0	1	0	1	0	0	0	0	9621	1722	60	0	11695	0	MLL2	12	49438211	Frame_Shift_Del	DEL	T	TCGA-BR-4363-01A-01D-1158-08	1252772	49438211	84413684	418	20153											
TROAP	10024	broad.mit.edu	37	chr12	49724166	49724166	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggagtgcggggaaccacAgccctgccctccggcagagc	15	14	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:49724166A>G	uc001rtx.3	+	13	1705	c.1538A>G	c.(1537-1539)CAG>CGG	p.Q513R	TROAP_uc009zlh.2_Missense_Mutation_p.Q513R|TROAP_uc001rty.2_Missense_Mutation_p.Q221R	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	513	Cys-rich.				cell adhesion	cytoplasm				ovary(1)	1						GGGGAACCACAGCCCTGCCCT	0.592													G	49724166	A	G	49724166	3	3	21	1	0	0	0	0	1	0	0	0	16572	188	7	3	1686	3	TROAP	12	49724166	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	285955	49724166	84127729	419	20154											
C1QL4	338761	broad.mit.edu	37	chr12	49729777	49729777	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccgtcgccgccgcgcaTgagcacgtggtaagcgaaga	16	12	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:49729777T>C	uc001rtz.1	-	1	1195	c.484A>G	c.(484-486)ATG>GTG	p.M162V		NM_001008223	NP_001008224	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	162	C1q.					collagen					0						CCGCCGCGCATGAGCACGTGG	0.627													C	49729777	T	C	49729777	3	2	21	1	0	0	0	0	1	0	0	0	1961	1464	51	3	240	3	C1QL4	12	49729777	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	5611	49729777	84122118	420	20155											
FAM186B	84070	broad.mit.edu	37	chr12	49993929	49993929	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctgccgctgctgccacatCtcctcctcctccagccacag	6	20	2	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:49993929C>A	uc001ruo.2	-	4	1667	c.1494G>T	c.(1492-1494)GAG>GAT	p.E498D	FAM186B_uc010smk.1_Missense_Mutation_p.E408D	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	hypothetical protein LOC84070	498						protein complex				ovary(1)	1						GCTGCCACATCTCCTCCTCCT	0.632													A	49993929	C	A	49993929	3	1	21	1	0	0	0	0	1	0	0	0	5512	912	32	5	1203	5	FAM186B	12	49993929	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	264152	49993929	83857966	421	20156											
TARBP2	6895	broad.mit.edu	37	chr12	53898184	53898185	+	Frame_Shift_Ins	INS	-	-	C													gtgccttttccttcaggagcINSccccccatggaactgcagcc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:53898183_53898184G>GC	uc001sdo.3	+	4	913_914	c.425_426G>GC	c.(424-426)agcfs	p.S142fs	TARBP2_uc001sdp.3_Frame_Shift_Ins_p.S121fs|TARBP2_uc001sdr.3_5'UTR|TARBP2_uc001sdt.3_Frame_Shift_Ins_p.S121fs	NM_134323	NP_599151	Q15633	TRBP2_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 2 (TARBP2), transcript variant 1, mRNA.	142					miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol|nucleus|perinuclear region of cytoplasm	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						TCCTTCAGGAGCCCCCCCATGG	0.564													C	53898185	-	C	53898184	7	5	21	1	0	1	1	0	0	0	0	0	15553	738	26	0	444	0	TARBP2	12	53898184	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	3904255	53898184	79953711	422	20157											
HOXC9	3225	broad.mit.edu	37	chr12	54394139	54394139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttccgtcctgtagcttcgCgcccaagccggcagtgttca	10	14	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:54394139C>T	uc001sep.2	+	2	265	c.167C>T	c.(166-168)GCG>GTG	p.A56V	HOXC9_uc001seq.2_Missense_Mutation_p.A56V	NM_006897	NP_008828	P31274	HXC9_HUMAN	homeobox C9	56					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)|skin(1)	3						TGTAGCTTCGCGCCCAAGCCG	0.687													T	54394139	C	T	54394139	3	4	21	1	0	0	0	0	1	0	0	0	7317	768	27	1	169	1	HOXC9	12	54394139	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	495955	54394139	79457756	423	20158											
OR6C4	341418	broad.mit.edu	37	chr12	55945307	55945307	+	Frame_Shift_Del	DEL	T	T	-													gctggctgcttgactcagtaTttttttgctatatttcttgg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:55945306_55945306AT>A	uc010spp.2	+	0	296	c.296_296AT>A	c.(295-297)tatfs	p.Y99fs		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TTGACTCAGTATTTTTTTGCT	0.403													-	55945307	T	-	55945307	7	5	21	1	0	1	0	1	0	0	0	0	11193	1500	52	0	299	0	OR6C4	12	55945307	Frame_Shift_Del	DEL	T	TCGA-BR-4363-01A-01D-1158-08	1551168	55945307	77906588	424	20159											
DGKA	1606	broad.mit.edu	37	chr12	56332996	56332996	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggagatgatgaaagagatTgactatgatggcagtggctc	14	5	0	6			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:56332996T>C	uc001sij.2	+	8	765	c.501T>C	c.(499-501)ATT>ATC	p.I167I	DGKA_uc009zoc.1_Silent_p.I167I|DGKA_uc001sih.1_Silent_p.I55I|DGKA_uc001sii.1_Silent_p.I25I|DGKA_uc009zod.1_Silent_p.I86I|DGKA_uc009zoe.1_Silent_p.I167I|DGKA_uc001sik.2_Silent_p.I167I|DGKA_uc001sil.2_Silent_p.I167I|DGKA_uc001sim.2_Silent_p.I167I|DGKA_uc001sin.2_Silent_p.I167I|DGKA_uc009zof.2_5'UTR|DGKA_uc001sio.2_5'UTR	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	167	EF-hand 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	TGAAAGAGATTGACTATGATG	0.542													C	56332996	T	C	56332996	2	2	21	1	0	0	0	0	0	0	0	1	4465	1800	63	3		3	DGKA	12	56332996	Silent	SNP	T	TCGA-BR-4363-01A-01D-1158-08	387689	56332996	77518899	425	20160											
ESYT1	23344	broad.mit.edu	37	chr12	56525096	56525096	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagcaggagtcaagggcaTgcaggtaggccagatgtcag	15	8	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:56525096T>C	uc001sjq.2	+	5	760	c.710T>C	c.(709-711)ATG>ACG	p.M237T	ESYT1_uc001sjr.2_Missense_Mutation_p.M237T	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	237						integral to membrane				ovary(4)|skin(1)	5						GTCAAGGGCATGCAGGTAGGC	0.473													C	56525096	T	C	56525096	3	2	21	1	0	0	0	0	1	0	0	0	5264	1464	51	3	728	3	ESYT1	12	56525096	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	192100	56525096	77326799	426	20161											
R3HDM2	22864	broad.mit.edu	37	chr12	57648686	57648686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggggctggggaacacaGccacaatggtgtacaaggca	15	10	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:57648686G>A	uc009zpm.1	-	22	2836	c.2801C>T	c.(2800-2802)GCT>GTT	p.A934V	R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Missense_Mutation_p.A629V|R3HDM2_uc001snr.2_Missense_Mutation_p.A661V|R3HDM2_uc001sns.2_Missense_Mutation_p.A934V|R3HDM2_uc001snt.2_Missense_Mutation_p.A948V|R3HDM2_uc009zpn.1_Intron	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	934						nucleus	nucleic acid binding			ovary(2)	2						GGGGAACACAGCCACAATGGT	0.587													A	57648686	G	A	57648686	3	1	21	1	0	0	0	0	1	0	0	0	12888	971	34	2	133	2	R3HDM2	12	57648686	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1123590	57648686	76203209	427	20162											
DCTN2	10540	broad.mit.edu	37	chr12	57927827	57927827	+	Frame_Shift_Del	DEL	C	C	-													ggggggtcccagtggtttttCcccctgatccccctttgctg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:57927826_57927826TC>T	uc021qzn.1	-	8	726	c.594_594GA>A	c.(592-594)ggafs	p.G198fs	DCTN2_uc001som.1_Frame_Shift_Del_p.G193fs|DCTN2_uc009zpv.1_Frame_Shift_Del_p.G106fs|DCTN2_uc009zpw.1_Frame_Shift_Del_p.G106fs	NM_006400	NP_006391	Q13561	DCTN2_HUMAN	Homo sapiens dynactin 2 (p50) (DCTN2), mRNA.	193					G2/M transition of mitotic cell cycle|cell proliferation|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						CAGTGGTTTTTCCCCCTGATC	0.507													-	57927827	C	-	57927827	7	5	21	1	0	1	0	1	0	0	0	0	4307	855	30	0	659	0	DCTN2	12	57927827	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	279141	57927827	75924068	428	20163											
PPM1H	57460	broad.mit.edu	37	chr12	63113972	63113972	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcctgtcatattaaagtccCtgtagagcatcttctttcca	6	11	3	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:63113972C>A	uc001srk.3	-	6	1201	c.1052G>T	c.(1051-1053)AGG>ATG	p.R351M		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	protein phosphatase 1H (PP2C domain containing)	351	PP2C-like.						phosphoprotein phosphatase activity			lung(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		ATTAAAGTCCCTGTAGAGCAT	0.468													A	63113972	C	A	63113972	3	1	21	1	0	0	0	0	1	0	0	0	12341	681	24	5	512	5	PPM1H	12	63113972	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	5186145	63113972	70737923	429	20164											
TMBIM4	51643	broad.mit.edu	37	chr12	66531853	66531853	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggtgacagtttatgcaTcagtgagtgtgtgtcataga	12	5	3	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:66531853T>A	uc001stc.2	-	7	680	c.604A>T	c.(604-606)ATG>TTG	p.M202L	LLPH_uc010ssx.1_RNA|TMBIM4_uc001std.2_Missense_Mutation_p.M171L|TMBIM4_uc009zqr.2_Missense_Mutation_p.M249L|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_3'UTR|TMBIM4_uc009zqs.2_3'UTR	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	202						integral to membrane	protein binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(28;0.0745)		AGTTTATGCATCAGTGAGTGT	0.423													A	66531853	T	A	66531853	3	1	21	1	0	0	0	0	1	0	0	0	15979	1435	50	5	116	5	TMBIM4	12	66531853	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	3417881	66531853	67320042	430	20165											
CAND1	55832	broad.mit.edu	37	chr12	67696213	67696213	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgaaatgcttccagaaTtctacaagaccgtctctcct	7	12	2	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:67696213T>A	uc001stn.2	+	8	1548	c.1111T>A	c.(1111-1113)TTC>ATC	p.F371I	CAND1_uc001sto.2_Missense_Mutation_p.F49I	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	371	HEAT 9.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GCTTCCAGAATTCTACAAGAC	0.423													A	67696213	T	A	67696213	3	1	21	1	0	0	0	0	1	0	0	0	2615	1493	52	5	1141	5	CAND1	12	67696213	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	1164360	67696213	66155682	431	20166											
PTPRB	5787	broad.mit.edu	37	chr12	70949083	70949083	+	Frame_Shift_Del	DEL	G	G	-													gaatgtgtgggggtggaggaGgggggcctggaaaaagaggt							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:70949083delG	uc001swb.3	-	18	4376	c.4346delC	c.(4345-4347)CCTfs	p.P1449fs	PTPRB_uc010sto.1_Frame_Shift_Del_p.P1359fs|PTPRB_uc010stp.1_Frame_Shift_Del_p.P1359fs|PTPRB_uc001swc.3_Frame_Shift_Del_p.P1667fs|PTPRB_uc001swa.3_Frame_Shift_Del_p.P1579fs	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1449	Fibronectin type-III 17.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGGTGGAGGAGGGGGGCCTGG	0.478													-	70949083	G	-	70949083	7	5	21	1	0	1	0	1	0	0	0	0	12796	1000	35	0	1707	0	PTPRB	12	70949083	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	3252870	70949083	62902812	432	20167											
NAV3	89795	broad.mit.edu	37	chr12	78583914	78583914	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacctatttggcaaacaaacTtgctgaatatgtaataacca	6	8	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:78583914T>G	uc001syp.2	+	34	6379	c.6206T>G	c.(6205-6207)CTT>CGT	p.L2069R	NAV3_uc001syo.2_Missense_Mutation_p.L2047R|NAV3_uc010sub.1_Missense_Mutation_p.L1526R|NAV3_uc009zsf.2_Missense_Mutation_p.L878R	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	2069						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						GCAAACAAACTTGCTGAATAT	0.373										HNSCC(70;0.22)			G	78583914	T	G	78583914	3	3	21	1	0	0	0	0	1	0	0	0	10185	1609	56	5	6270	5	NAV3	12	78583914	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	7634831	78583914	55267981	433	20168											
STAB2	55576	broad.mit.edu	37	chr12	104156095	104156095	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagggatcttctttgccaTcatcctggtgactggggctg	13	10	3	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:104156095T>C	uc001tjw.2	+	67	7589	c.7403T>C	c.(7402-7404)ATC>ACC	p.I2468T	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2468	Helical; (Potential).				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						TTCTTTGCCATCATCCTGGTG	0.488													C	104156095	T	C	104156095	3	2	21	1	0	0	0	0	1	0	0	0	15237	1435	50	3	7669	3	STAB2	12	104156095	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	25572181	104156095	29695800	434	20169											
NUAK1	9891	broad.mit.edu	37	chr12	106460931	106460931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagggattccagtgtgggCatttcagggctgaccagggc	16	9	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:106460931C>T	uc001tlj.1	-	7	3015	c.1635G>A	c.(1633-1635)ATG>ATA	p.M545I		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	545							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						CCAGTGTGGGCATTTCAGGGC	0.612													T	106460931	C	T	106460931	3	4	21	1	0	0	0	0	1	0	0	0	10712	710	25	2	354	2	NUAK1	12	106460931	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	2304836	106460931	27390964	435	20170											
TMEM119	338773	broad.mit.edu	37	chr12	108985933	108985933	+	Frame_Shift_Del	DEL	C	C	-													agttggtggggggtgatgggCcccccagggttatgggctgg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:108985932_108985932GC>G	uc001tng.3	-	1	391	c.228_228GC>C	c.(226-228)ggcfs	p.G76fs	TMEM119_uc021rdl.1_Frame_Shift_Del_p.G76fs	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	76						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						GGGGTGATGGGCCCCCCAGGG	0.667													-	108985933	C	-	108985933	7	5	21	1	0	1	0	1	0	0	0	0	16029	739	26	0	628	0	TMEM119	12	108985933	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	2525002	108985933	24865962	436	20171											
ACACB	32	broad.mit.edu	37	chr12	109671600	109671600	+	Frame_Shift_Del	DEL	C	C	-													cgccaacgtgcccaaagacaCccccctcttcagcgaggccc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:109671599_109671599AC>A	uc001tob.3	+	29	4305	c.4186_4186AC>A	c.(4186-4188)accfs	p.T1396fs	ACACB_uc001toc.3_Frame_Shift_Del_p.T1396fs|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Frame_Shift_Del_p.T62fs	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1396					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GCCCAAAGACACCCCCCTCTT	0.607													-	109671600	C	-	109671600	7	5	21	1	0	1	0	1	0	0	0	0	107	507	18	0	4301	0	ACACB	12	109671600	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	685667	109671600	24180295	437	20172											
UBE3B	89910	broad.mit.edu	37	chr12	109967832	109967832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaactcctgaactgcagcGtctcatctctggcgacaatg	8	14	3	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:109967832G>A	uc001top.2	+	25	3368	c.2765G>A	c.(2764-2766)CGT>CAT	p.R922H	UBE3B_uc001toq.2_Missense_Mutation_p.R922H|UBE3B_uc001tos.2_Missense_Mutation_p.R349H|UBE3B_uc001tot.2_Missense_Mutation_p.R40H|UBE3B_uc010sxp.1_Missense_Mutation_p.R40H	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	922	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						GAACTGCAGCGTCTCATCTCT	0.488													A	109967832	G	A	109967832	3	1	21	1	0	0	0	0	1	0	0	0	16877	1145	40	1	2855	1	UBE3B	12	109967832	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	296232	109967832	23884063	438	20173											
GIT2	9815	broad.mit.edu	37	chr12	110370843	110370843	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcagccttggcgatgtcGtacgcacactggatgacctg	13	11	0	1	rs150244358		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:110370843G>A	uc001tps.2	-	20	2385	c.2220C>T	c.(2218-2220)TAC>TAT	p.Y740Y	TCHP_uc001tpo.1_RNA|GIT2_uc001tpr.2_3'UTR|GIT2_uc001tpq.2_Silent_p.Y710Y|GIT2_uc001tpv.2_Silent_p.Y662Y|GIT2_uc001tpu.2_Silent_p.Y660Y|GIT2_uc001tpt.2_Silent_p.Y612Y|GIT2_uc010sxu.1_Silent_p.Y648Y	NM_057169	NP_476510	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting	740					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			central_nervous_system(1)	1						TGGCGATGTCGTACGCACACT	0.448													A	110370843	G	A	110370843	2	1	21	1	0	0	0	0	0	0	0	1	6397	1140	40	1		1	GIT2	12	110370843	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	403011	110370843	23481052	439	20174											
IFT81	28981	broad.mit.edu	37	chr12	110643263	110643263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataggaagttagaagactcCgtgaagaatgtcttcaagaa	10	5	2	5			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:110643263C>T	uc001tqi.2	+	16	1790	c.1660C>T	c.(1660-1662)CGT>TGT	p.R554C	IFT81_uc001tqh.2_Missense_Mutation_p.R554C|IFT81_uc001tqj.2_RNA	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81-like isoform 1	554	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1						TAGAAGACTCCGTGAAGAATG	0.303													T	110643263	C	T	110643263	3	4	21	1	0	0	0	0	1	0	0	0	7565	652	23	1	1830	1	IFT81	12	110643263	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	272420	110643263	23208632	440	20175											
PPP1CC	5501	broad.mit.edu	37	chr12	111158948	111158948	+	Frame_Shift_Del	DEL	T	T	-													gtctcgtggcatttggcttcTttttctctgcaggctttaaa							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:111158948delT	uc001tru.2	-	7	1150	c.905delA	c.(904-906)AAGfs	p.K302fs		NM_002710	NP_002701	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma	302					cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process	cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|MLL5-L complex|nuclear speck|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity			lung(2)|central_nervous_system(1)	3						ATTTGGCTTCTTTTTCTCTGC	0.398													-	111158948	T	-	111158948	7	5	21	1	0	1	0	1	0	0	0	0	12351	1609	56	0	70	0	PPP1CC	12	111158948	Frame_Shift_Del	DEL	T	TCGA-BR-4363-01A-01D-1158-08	515685	111158948	22692947	441	20176											
OAS1	4938	broad.mit.edu	37	chr12	113348996	113348996	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaagcagcgccccaccAagctcaagagcctcatccgc	8	18	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:113348996A>G	uc001tud.2	+	3	716	c.610A>G	c.(610-612)AAG>GAG	p.K204E	OAS1_uc010syn.1_Missense_Mutation_p.K203E|OAS1_uc010syo.1_Missense_Mutation_p.Q187R|OAS1_uc001tub.2_Missense_Mutation_p.K204E|OAS1_uc001tuc.2_Missense_Mutation_p.K204E|OAS1_uc009zwf.2_Missense_Mutation_p.K203E	NM_016816	NP_058132	P00973	OAS1_HUMAN	2',5'-oligoadenylate synthetase 1 isoform 1	204					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(2)	2						GCGCCCCACCAAGCTCAAGAG	0.527													G	113348996	A	G	113348996	3	3	21	1	0	0	0	0	1	0	0	0	10799	131	5	3	620	3	OAS1	12	113348996	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	2190048	113348996	20502899	442	20177											
LRRC43	254050	broad.mit.edu	37	chr12	122685346	122685346	+	Frame_Shift_Del	DEL	C	C	-													cccaaggagctccggcaggaCccccccatcctccaggtgct							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:122685345_122685345AC>A	uc009zxm.3	+	9	1698	c.1673_1673AC>A	c.(1672-1674)gacfs	p.D558fs	LRRC43_uc001ubw.4_Frame_Shift_Del_p.D373fs|LRRC43_uc009zxn.3_Frame_Shift_Del_p.D319fs|B3GNT4_uc001ubx.3_5'Flank|B3GNT4_uc001uby.3_5'Flank	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	558										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCCGGCAGGACCCCCCCATC	0.667													-	122685346	C	-	122685346	7	5	21	1	0	1	0	1	0	0	0	0	9001	506	18	0	1712	0	LRRC43	12	122685346	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	9336350	122685346	11166549	443	20178											
CCDC62	84660	broad.mit.edu	37	chr12	123270349	123270349	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctcgagaacaagctcttacGacaatgataaagctaaaggt	9	8	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:123270349G>A	uc001udc.2	+	4	625	c.480G>A	c.(478-480)ACG>ACA	p.T160T	CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Silent_p.T160T|CCDC62_uc001ude.2_Intron	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62 isoform b	160	Potential.					cytoplasm|nucleus				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AAGCTCTTACGACAATGATAA	0.403													A	123270349	G	A	123270349	2	1	21	1	0	0	0	0	0	0	0	1	2833	1045	37	1		1	CCDC62	12	123270349	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	585003	123270349	10581546	444	20179											
EIF2B1	1967	broad.mit.edu	37	chr12	124106442	124106442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtcttgtccagtctgcGcgaccttgagagtgtctgcc	13	11	3	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:124106442G>A	uc001ufm.2	-	9	922	c.779C>T	c.(778-780)GCG>GTG	p.A260V	EIF2B1_uc001ufn.2_Missense_Mutation_p.A258V	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B,	260					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TCCAGTCTGCGCGACCTTGAG	0.522													A	124106442	G	A	124106442	3	1	21	1	0	0	0	0	1	0	0	0	5000	1087	38	1	142	1	EIF2B1	12	124106442	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	836093	124106442	9745453	445	20180											
GOLGA3	2802	broad.mit.edu	37	chr12	133359063	133359063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttatcttcttcctaaagCctctggattcttgaagctga	7	9	4	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:133359063C>T	uc001ukz.1	-	17	3843	c.3284G>A	c.(3283-3285)GGC>GAC	p.G1095D	GOLGA3_uc001ula.1_Missense_Mutation_p.G1095D	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1095	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTTCCTAAAGCCTCTGGATTC	0.448													T	133359063	C	T	133359063	3	4	21	1	0	0	0	0	1	0	0	0	6554	739	26	2	1244	2	GOLGA3	12	133359063	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	9252621	133359063	492832	446	20181											
LNX2	222484	broad.mit.edu	37	chr13	28136741	28136741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctgttcaccagagtcccGtttatgaagagccacttgga	10	10	1	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr13:28136741G>A	uc001url.3	-	5	1342	c.1033C>T	c.(1033-1035)CGG>TGG	p.R345W	LNX2_uc001urm.1_Missense_Mutation_p.R345W	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	345	PDZ 2.						zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CCAGAGTCCCGTTTATGAAGA	0.498													A	28136741	G	A	28136741	3	1	21	1	0	0	0	0	1	0	0	0	8866	1144	40	1	1063	1	LNX2	13	28136741	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08		28136741	87033137	447	20182											
SLC7A1	6541	broad.mit.edu	37	chr13	30104821	30104821	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatattttgttgaccatggcCgactctttcacaccaagagt	7	10	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr13:30104821C>T	uc001uso.2	-	5	945	c.558G>A	c.(556-558)TCG>TCA	p.S186S		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	186	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TGACCATGGCCGACTCTTTCA	0.433													T	30104821	C	T	30104821	2	4	21	1	0	0	0	0	0	0	0	1	14692	639	23	1		1	SLC7A1	13	30104821	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1968080	30104821	85065057	448	20183											
DNAJC15	29103	broad.mit.edu	37	chr13	43643080	43643080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttaggtcgctacgcatttCggatctggaaacctctagaa	9	9	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr13:43643080C>T	uc001uyy.2	+	3	576	c.175C>T	c.(175-177)CGG>TGG	p.R59W		NM_013238	NP_037370	Q9Y5T4	DJC15_HUMAN	DNAJ domain-containing	59						integral to membrane	heat shock protein binding				0		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		CTACGCATTTCGGATCTGGAA	0.333													T	43643080	C	T	43643080	3	4	21	1	0	0	0	0	1	0	0	0	4634	875	31	1	185	1	DNAJC15	13	43643080	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	13538259	43643080	71526798	449	20184											
COG3	83548	broad.mit.edu	37	chr13	46083903	46083903	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggaatgtggtatcctacGgttcgaagaactcttgtctg	11	8	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr13:46083903G>A	uc001vak.2	+	15	1772	c.1671G>A	c.(1669-1671)ACG>ACA	p.T557T	COG3_uc001vaj.1_Silent_p.T557T|COG3_uc010tfv.1_Silent_p.T394T|COG3_uc010aci.2_Silent_p.T333T	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	component of golgi transport complex 3	557					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|skin(1)	2		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		GGTATCCTACGGTTCGAAGAA	0.388													A	46083903	G	A	46083903	2	1	21	1	0	0	0	0	0	0	0	1	3659	1103	39	1		1	COG3	13	46083903	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	2440823	46083903	69085975	450	20185											
DHRS12	79758	broad.mit.edu	37	chr13	52351200	52351200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cataaggtcaactcaccactCgggggtcgtgttctttctcc	9	13	4	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr13:52351200C>T	uc001vfq.2	-	6	554	c.506G>A	c.(505-507)CGA>CAA	p.R169Q	DHRS12_uc001vfr.1_Missense_Mutation_p.R120Q|DHRS12_uc001vfs.1_Missense_Mutation_p.R120Q			A0PJE2	DHR12_HUMAN	RecName: Full=Dehydrogenase/reductase SDR family member 12;          EC=1.1.-.-;	169							binding|oxidoreductase activity				0		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		ACTCACCACTCGGGGGTCGTG	0.567													T	52351200	C	T	52351200	3	4	21	1	0	0	0	0	1	0	0	0	4488	884	31	1	646	1	DHRS12	13	52351200	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	6267297	52351200	62818678	451	20186											
DOCK9	23348	broad.mit.edu	37	chr13	99481946	99481946	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgatgatggacagggacTgctggaatctggttccccca	13	9	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr13:99481946T>C	uc001vnt.2	-	42	4689	c.4634A>G	c.(4633-4635)CAG>CGG	p.Q1545R	DOCK9_uc001vnw.2_Missense_Mutation_p.Q1544R|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.Q1545R|DOCK9_uc001vnq.2_Missense_Mutation_p.Q117R|DOCK9_uc001vnr.2_Missense_Mutation_p.Q188R|DOCK9_uc010tin.1_Missense_Mutation_p.Q188R|DOCK9_uc001vns.2_Missense_Mutation_p.Q117R|DOCK9_uc010tio.1_Missense_Mutation_p.Q237R|DOCK9_uc010tip.1_Missense_Mutation_p.Q255R|DOCK9_uc001vnu.1_Missense_Mutation_p.Q117R|DOCK9_uc010tiq.1_Missense_Mutation_p.Q523R	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1545	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGACAGGGACTGCTGGAATCT	0.498													C	99481946	T	C	99481946	3	2	21	1	0	0	0	0	1	0	0	0	4694	1580	55	3	1631	3	DOCK9	13	99481946	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	47130746	99481946	15687932	452	20187											
ARGLU1	55082	broad.mit.edu	37	chr13	107219984	107219984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcttctgcttctcgtccAggctgctgcgcttgctcacc	9	17	3	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr13:107219984A>G	uc001vqk.3	-	1	531	c.284T>C	c.(283-285)CTG>CCG	p.L95P		NM_018011	NP_060481	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	95											0	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CTTCTCGTCCAGGCTGCTGCG	0.582													G	107219984	A	G	107219984	3	3	21	1	0	0	0	0	1	0	0	0	860	188	7	3	553	3	ARGLU1	13	107219984	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	7738038	107219984	7949894	453	20188											
MYO16	23026	broad.mit.edu	37	chr13	109475609	109475609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatcattcacgatcttccCgtactgtcgagtaagctgta	9	10	3	1	rs141132835	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr13:109475609C>T	uc001vqt.1	+	9	1140	c.1014C>T	c.(1012-1014)CCC>CCT	p.P338P	MYO16_uc010agk.1_Silent_p.P360P|MYO16_uc001vqu.1_Silent_p.P138P	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	338					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.P338T(1)		ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACGATCTTCCCGTACTGTCGA	0.428													T	109475609	C	T	109475609	2	4	21	1	0	0	0	0	0	0	0	1	10064	639	23	1		1	MYO16	13	109475609	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	2255625	109475609	5694269	454	20189											
COL4A1	1282	broad.mit.edu	37	chr13	110838771	110838771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcctccaggaaagcctgCttgtcctttgtcaccaatgg	11	12	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr13:110838771C>T	uc001vqw.3	-	26	1980	c.1858G>A	c.(1858-1860)GCA>ACA	p.A620T	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	620	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGAAAGCCTGCTTGTCCTTTG	0.617													T	110838771	C	T	110838771	3	4	21	1	0	0	0	0	1	0	0	0	3689	797	28	2	3259	2	COL4A1	13	110838771	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1363162	110838771	4331107	455	20190											
F10	2159	broad.mit.edu	37	chr13	113783899	113783899	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcatacgaagaggcccgCgaggtctttgaggacagcga	14	10	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr13:113783899C>T	uc001vsx.2	+	2	261	c.204C>T	c.(202-204)CGC>CGT	p.R68R	F10_uc010agq.1_RNA|F10_uc001vsy.2_Silent_p.R68R|F10_uc001vsz.2_Silent_p.R68R	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	68	Gla.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			pancreas(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGAGGCCCGCGAGGTCTTTG	0.592													T	113783899	C	T	113783899	2	4	21	1	0	0	0	0	0	0	0	1	5336	755	27	1		1	F10	13	113783899	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	2945128	113783899	1385979	456	20191											
TMCO3	55002	broad.mit.edu	37	chr13	114188557	114188557	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcttcttaatgttaacggTaattctcaaactatgtgtta	5	6	3	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr13:114188557T>C	uc001vtu.3	+	9	1900	c.1539_splice	c.e9+2	p.T513_splice	TMCO3_uc001vtt.3_Missense_Mutation_p.V514A	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3							integral to membrane	solute:hydrogen antiporter activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			ATGTTAACGGTAATTCTCAAA	0.338													C	114188557	T	C	114188557	5	2	21	1	0	0	0	0	0	0	1	0	15994	1652	57	3	1571	3	TMCO3	13	114188557	Splice_Site	SNP	T	TCGA-BR-4363-01A-01D-1158-08	404658	114188557	981321	457	20192											
EDDM3A	10876	broad.mit.edu	37	chr14	21216035	21216035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgtatgggccccaggtgCcctcaaagtactcgagtgtc	11	11	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:21216035C>T	uc001vyb.2	+	2	363	c.296C>T	c.(295-297)GCC>GTC	p.A99V	EDDM3A_uc001vyc.2_Missense_Mutation_p.A99V	NM_006683	NP_006674	Q14507	EP3A_HUMAN	human epididymis-specific 3 alpha precursor	99					sperm displacement	extracellular space					0						GCCCCAGGTGCCCTCAAAGTA	0.443													T	21216035	C	T	21216035	3	4	21	1	0	0	0	0	1	0	0	0	4909	739	26	2	298	2	EDDM3A	14	21216035	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08		21216035	86133505	458	20193											
PPP2R3C	55012	broad.mit.edu	37	chr14	35577434	35577434	+	Frame_Shift_Del	DEL	A	A	-													tagcaaagacttttgctgtgAaaaattgcctaagaaaagaa							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:35577433_35577433GA>G	uc001wss.3	-	4	768	c.414_414TC>C	c.(412-414)ttcfs	p.F138fs	PPP2R3C_uc001wst.3_Frame_Shift_Del_p.F22fs|PPP2R3C_uc010tpr.2_Frame_Shift_Del_p.F22fs|PPP2R3C_uc001wsu.3_Non-coding_Transcript|PPP2R3C_uc010amn.1_Intron|AK128559_uc001wsv.1_Intron|PPP2R3C_uc001wsw.3_Frame_Shift_Del_p.F138fs|PPP2R3C_uc001wsx.1_Frame_Shift_Del_p.F138fs	NM_017917	NP_060387	Q969Q6	P2R3C_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', gamma (PPP2R3C), mRNA.	138						centrosome|nucleus	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		CTTTTGCTGTGAAAAATTGCC	0.289													-	35577434	A	-	35577434	7	5	21	1	0	1	0	1	0	0	0	0	12390	246	9	0	984	0	PPP2R3C	14	35577434	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	14361399	35577434	71772106	459	20194											
SLC25A21	89874	broad.mit.edu	37	chr14	37641501	37641501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacctgcagaaccaccggCcacgatctgccgagaagcct	9	16	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:37641501C>T	uc001wtz.1	-	1	365	c.55G>A	c.(55-57)GCC>ACC	p.A19T	uc001wua.2_5'UTR	NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial	19	Helical; Name=1; (Potential).|Solcar 1.				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			skin(1)	1	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		GAACCACCGGCCACGATCTGC	0.642													T	37641501	C	T	37641501	3	4	21	1	0	0	0	0	1	0	0	0	14484	739	26	2	889	2	SLC25A21	14	37641501	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	2064067	37641501	69708039	460	20195											
PPIL5	122769	broad.mit.edu	37	chr14	50074337	50074337	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttactgtgggcttgtcCgagttgatatgcgtatgctt	11	8	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:50074337C>T	uc001wwn.2	+	3	826	c.502C>T	c.(502-504)CGA>TGA	p.R168*	SDCCAG1_uc010anj.1_Intron|PPIL5_uc001wwo.2_Intron|PPIL5_uc010ank.2_Nonsense_Mutation_p.R109*|PPIL5_uc001wwp.2_RNA	NM_152329	NP_689542	Q96L50	LLR1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 5	168	LRR 1.										0	all_epithelial(31;0.0021)|Breast(41;0.0124)					TGGGCTTGTCCGAGTTGATAT	0.358													T	50074337	C	T	50074337	4	4	21	1	0	0	0	0	0	1	0	0	12330	644	23	1	512	1	PPIL5	14	50074337	Nonsense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	12432836	50074337	57275203	461	20196											
TRIM9	114088	broad.mit.edu	37	chr14	51467459	51467459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatccatcggcgggcaccGtggacagaggtggctgtttc	15	10	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:51467459G>A	uc001wyx.3	-	6	2171	c.1406C>T	c.(1405-1407)ACG>ATG	p.T469M	TRIM9_uc001wyy.2_Missense_Mutation_p.T465M|TRIM9_uc001wyz.3_Missense_Mutation_p.T469M	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	469	Fibronectin type-III.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					GGCGGGCACCGTGGACAGAGG	0.547													A	51467459	G	A	51467459	3	1	21	1	0	0	0	0	1	0	0	0	16546	1145	40	1	796	1	TRIM9	14	51467459	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1393122	51467459	55882081	462	20197											
NID2	22795	broad.mit.edu	37	chr14	52478375	52478375	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatcctctcccggcagtcGtaatcaattcccacgattat	5	15	2	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:52478375G>A	uc001wzo.2	-	17	3681	c.3447C>T	c.(3445-3447)TAC>TAT	p.Y1149Y	NID2_uc010tqs.1_Silent_p.Y1101Y|NID2_uc010tqt.1_Silent_p.Y1149Y	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	1149						basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					CCCGGCAGTCGTAATCAATTC	0.488													A	52478375	G	A	52478375	2	1	21	1	0	0	0	0	0	0	0	1	10415	1140	40	1		1	NID2	14	52478375	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1010916	52478375	54871165	463	20198											
PSMC6	5706	broad.mit.edu	37	chr14	53194281	53194281	+	Frame_Shift_Del	DEL	A	A	-													gacttcatgaaagcagtcagAaaagtggctgattctaagaa							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:53194281delA	uc010tqx.1	+	14	1158	c.1158delA	c.(1156-1158)AGAfs	p.R386fs	STYX_uc010tqy.1_5'Flank|STYX_uc001xaa.2_5'Flank|PSMC6_uc001wzy.2_RNA	NM_002806	NP_002797	P62333	PRS10_HUMAN	proteasome 26S ATPase subunit 6	372					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			lung(1)	1	Breast(41;0.176)					AAGCAGTCAGAAAAGTGGCTG	0.368													-	53194281	A	-	53194281	7	5	21	1	0	1	0	1	0	0	0	0	12691	243	9	0	1212	0	PSMC6	14	53194281	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	715906	53194281	54155259	464	20199											
FERMT2	10979	broad.mit.edu	37	chr14	53386064	53386064	+	Frame_Shift_Del	DEL	T	T	-													agagcatggtcagaccaatcTttttttacatctataaaaaa							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:53386064delT	uc001xad.2	-	3	223	c.168delA	c.(166-168)AAAfs	p.K56fs	FERMT2_uc001xac.2_Frame_Shift_Del_p.K56fs|FERMT2_uc001xae.2_Frame_Shift_Del_p.K56fs|FERMT2_uc001xaf.2_Frame_Shift_Del_p.K56fs	NM_006832	NP_006823	Q96AC1	FERM2_HUMAN	fermitin family homolog 2 isoform 1	56					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding				0	Breast(41;0.0342)					CAGACCAATCTTTTTTTACAT	0.338													-	53386064	T	-	53386064	7	5	21	1	0	1	0	1	0	0	0	0	5818	1606	56	0	1963	0	FERMT2	14	53386064	Frame_Shift_Del	DEL	T	TCGA-BR-4363-01A-01D-1158-08	191783	53386064	53963476	465	20200											
DAAM1	23002	broad.mit.edu	37	chr14	59834294	59834294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaaaggaggaagaagaaCgtcgagctcgcatggaagct	14	6	0	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:59834294C>T	uc001xdz.1	+	25	3129	c.3004C>T	c.(3004-3006)CGT>TGT	p.R1002C	DAAM1_uc001xea.1_Missense_Mutation_p.R992C|DAAM1_uc001xec.1_RNA	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	1002	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GGAAGAAGAACGTCGAGCTCG	0.413													T	59834294	C	T	59834294	3	4	21	1	0	0	0	0	1	0	0	0	4215	536	19	1	3098	1	DAAM1	14	59834294	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	6448230	59834294	47515246	466	20201											
SYNE2	23224	broad.mit.edu	37	chr14	64514742	64514742	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtggaaatggctatgTcaaaacaactttctcttaat	7	8	2	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:64514742T>C	uc001xgm.2	+	46	7476	c.7246T>C	c.(7246-7248)TCA>CCA	p.S2416P	SYNE2_uc001xgl.2_Missense_Mutation_p.S2416P	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2416	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATGGCTATGTCAAAACAACT	0.313													C	64514742	T	C	64514742	3	2	21	1	0	0	0	0	1	0	0	0	15443	1667	58	3	7424	3	SYNE2	14	64514742	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	4680448	64514742	42834798	467	20202											
SPTB	6710	broad.mit.edu	37	chr14	65253382	65253382	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgatacctgcatgctgctGcaggagctgctcagcctctg	11	13	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:65253382G>A	uc001xht.2	-	15	3355	c.3301C>T	c.(3301-3303)CAG>TAG	p.Q1101*	SPTB_uc001xhr.2_Nonsense_Mutation_p.Q1101*|SPTB_uc001xhs.2_Nonsense_Mutation_p.Q1101*|SPTB_uc001xhu.2_Nonsense_Mutation_p.Q1101*	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	1101	Spectrin 8.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCATGCTGCTGCAGGAGCTGC	0.587													A	65253382	G	A	65253382	4	1	21	1	0	0	0	0	0	1	0	0	15117	1328	46	2	3838	2	SPTB	14	65253382	Nonsense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	738640	65253382	42096158	468	20203											
ZFYVE26	23503	broad.mit.edu	37	chr14	68234521	68234521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggggactctcaccacaaacGagtatggagggctttcattc	11	10	2	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:68234521G>A	uc001xka.2	-	31	5829	c.5690C>T	c.(5689-5691)TCG>TTG	p.S1897L	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.S1897L	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1897					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CACCACAAACGAGTATGGAGG	0.473													A	68234521	G	A	68234521	3	1	21	1	0	0	0	0	1	0	0	0	17665	1059	37	1	1977	1	ZFYVE26	14	68234521	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	2981139	68234521	39115019	469	20204											
C14orf43	91748	broad.mit.edu	37	chr14	74193673	74193673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgggagcccacgttgatcCgtctagaggagtgaaaaggg	15	9	1	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:74193673C>T	uc001xot.2	-	6	2948	c.2165G>A	c.(2164-2166)CGG>CAG	p.R722Q	C14orf43_uc001xos.2_5'UTR|C14orf43_uc001xou.2_Missense_Mutation_p.R722Q|C14orf43_uc010tud.1_Missense_Mutation_p.R722Q|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	722	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		CACGTTGATCCGTCTAGAGGA	0.607													T	74193673	C	T	74193673	3	4	21	1	0	0	0	0	1	0	0	0	1774	652	23	1	1000	1	C14orf43	14	74193673	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	5959152	74193673	33155867	470	20205											
C14orf118	55668	broad.mit.edu	37	chr14	76633039	76633039	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtagcagcagtgacacTgggctctttaccaatgatga	12	8	1	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:76633039T>C	uc001xsh.2	+	3	782	c.696T>C	c.(694-696)ACT>ACC	p.T232T	C14orf118_uc001xsi.2_Silent_p.T232T|C14orf118_uc001xsj.1_Silent_p.T232T|C14orf118_uc001xsk.1_Silent_p.T232T|C14orf118_uc001xsl.2_RNA	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN	hypothetical protein LOC55668 isoform 1	232										ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.0172)		GCAGTGACACTGGGCTCTTTA	0.423													C	76633039	T	C	76633039	2	2	21	1	0	0	0	0	0	0	0	1	1741	1567	55	3		3	C14orf118	14	76633039	Silent	SNP	T	TCGA-BR-4363-01A-01D-1158-08	2439366	76633039	30716501	471	20206											
C14orf4	64207	broad.mit.edu	37	chr14	77492310	77492310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgactcaggtggggtggtcCggttggaatggggtcccaga	18	8	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:77492310C>T	uc001xsy.2	-	1	2725	c.1826G>A	c.(1825-1827)CGG>CAG	p.R609Q		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	chromosome 14 open reading frame 4	609	Pro-rich.					nucleus					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)		TGGGGTGGTCCGGTTGGAATG	0.507													T	77492310	C	T	77492310	3	4	21	1	0	0	0	0	1	0	0	0	1773	652	23	1	568	1	C14orf4	14	77492310	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	859271	77492310	29857230	472	20207											
C14orf148	122945	broad.mit.edu	37	chr14	77889102	77889102	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattatataatagtttgcagAagaaggttgcatgggcacaa	10	4	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:77889102A>G	uc001xtr.2	-	1	278	c.131T>C	c.(130-132)TTC>TCC	p.F44S	C14orf148_uc010tvi.1_Missense_Mutation_p.F44S	NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	hypothetical protein LOC122945 isoform 1	44					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		TAGTTTGCAGAAGAAGGTTGC	0.423													G	77889102	A	G	77889102	3	3	21	1	0	0	0	0	1	0	0	0	1751	246	9	3	1041	3	C14orf148	14	77889102	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	396792	77889102	29460438	473	20208											
SPTLC2	9517	broad.mit.edu	37	chr14	78018519	78018519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaggtgacaatgacgtgGcatacactgcactatgagaa	12	8	0	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:78018519G>A	uc001xub.2	-	9	1411	c.1223C>T	c.(1222-1224)GCC>GTC	p.A408V		NM_004863	NP_004854	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base	408						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			upper_aerodigestive_tract(1)|ovary(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CAATGACGTGGCATACACTGC	0.488													A	78018519	G	A	78018519	3	1	21	1	0	0	0	0	1	0	0	0	15123	1203	42	2	481	2	SPTLC2	14	78018519	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	129417	78018519	29331021	474	20209											
PTPN21	11099	broad.mit.edu	37	chr14	88938739	88938739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcactccccatcaactagcCgtttcttaagaattctttca	4	13	4	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:88938739C>T	uc001xwv.3	-	15	3051	c.2720G>A	c.(2719-2721)CGG>CAG	p.R907Q	PTPN21_uc010twc.1_Missense_Mutation_p.R703Q	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	907	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						ATCAACTAGCCGTTTCTTAAG	0.368													T	88938739	C	T	88938739	3	4	21	1	0	0	0	0	1	0	0	0	12786	652	23	1	824	1	PTPN21	14	88938739	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	10920220	88938739	18410801	475	20210											
TTC7B	145567	broad.mit.edu	37	chr14	91211166	91211166	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttggagatacaggagtgcGatgtcccctgctttctcata	10	10	2	1	rs141007402	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:91211166G>A	uc001xyp.2	-	4	668	c.546C>T	c.(544-546)ATC>ATT	p.I182I		NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	182							binding			ovary(2)	2		Melanoma(154;0.222)				ACAGGAGTGCGATGTCCCCTG	0.443													A	91211166	G	A	91211166	2	1	21	1	0	0	0	0	0	0	0	1	16710	1048	37	1		1	TTC7B	14	91211166	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	2272427	91211166	16138374	476	20211											
KLC1	3831	broad.mit.edu	37	chr14	104121009	104121009	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagtaattcaggggctggaAgctttgaagaatgagcacaa	12	6	1	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:104121009A>G	uc001yno.2	+	2	416	c.108A>G	c.(106-108)GAA>GAG	p.E36E	KLC1_uc010tyd.1_Silent_p.E195E|KLC1_uc010tye.1_Silent_p.E32E|KLC1_uc001ynm.1_Silent_p.E36E|KLC1_uc001ynn.1_Silent_p.E32E|KLC1_uc010tyf.1_Silent_p.E36E	NM_182923	NP_891553	Q07866	KLC1_HUMAN	kinesin light chain 1 isoform 2	36					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0		Melanoma(154;0.155)|all_epithelial(191;0.19)				AGGGGCTGGAAGCTTTGAAGA	0.373													G	104121009	A	G	104121009	2	3	21	1	0	0	0	0	0	0	0	1	8333	69	3	3		3	KLC1	14	104121009	Silent	SNP	A	TCGA-BR-4363-01A-01D-1158-08	12909843	104121009	3228531	477	20212											
SPRED1	161742	broad.mit.edu	37	chr15	38614463	38614463	+	Frame_Shift_Del	DEL	A	A	-													tggttttggaatgtatgcttAaaaaagacctcatttataat							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:38614462_38614462TA>T	uc001zka.4	+	2	563	c.228_228TA>T	c.(226-228)cttfs	p.L76fs		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 1 (SPRED1), mRNA.	76	WH1.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AATGTATGCTTAAAAAAGACC	0.338									Legius syndrome				-	38614463	A	-	38614463	7	5	21	1	0	1	0	1	0	0	0	0	15091	363	13	0	239	0	SPRED1	15	38614463	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08		38614463	63916929	478	20213											
C15orf52	388115	broad.mit.edu	37	chr15	40628852	40628853	+	Frame_Shift_Ins	INS	-	-	T													ccaccgagggtctgctggctINStgcccgccccgacctgcaag							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:40628851_40628852C>CT	uc001zlh.4	-	8	958_959	c.942_943G>AG	c.(940-945)caagccfs	p.Q314fs	C15orf52_uc001zli.1_3'UTR|C15orf52_uc010ucn.2_Frame_Shift_Ins_p.Q104fs	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	314										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GGTCTGCTGGCTTGCCCGCCCC	0.649													T	40628853	-	T	40628852	7	5	21	1	0	1	1	0	0	0	0	0	1800	1606	56	0	674	0	C15orf52	15	40628852	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	2014389	40628852	61902540	479	20214											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42139856	42139856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctccacaggggtccggcGgacacccgaggaggcggcag	16	14	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:42139856G>A	uc010bco.2	+	20	2245	c.2144G>A	c.(2143-2145)CGG>CAG	p.R715Q	JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.R946Q|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.G884R|JMJD7-PLA2G4B_uc001zoq.3_Missense_Mutation_p.R416Q	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	715	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						GGGGTCCGGCGGACACCCGAG	0.632													A	42139856	G	A	42139856	3	1	21	1	0	0	0	0	1	0	0	0	7955	1116	39	1	2935	1	JMJD7-PLA2G4B	15	42139856	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1511004	42139856	60391536	480	20215											
SPTBN5	51332	broad.mit.edu	37	chr15	42170721	42170721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgagtctcagcctggcGccgggcccgttgggccactt	15	15	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:42170721G>A	uc001zos.2	-	17	3517	c.3184C>T	c.(3184-3186)CGC>TGC	p.R1062C		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1097					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCAGCCTGGCGCCGGGCCCGT	0.637													A	42170721	G	A	42170721	3	1	21	1	0	0	0	0	1	0	0	0	15121	1087	38	1	7943	1	SPTBN5	15	42170721	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	30865	42170721	60360671	481	20216											
MAP1A	4130	broad.mit.edu	37	chr15	43819858	43819858	+	Frame_Shift_Del	DEL	C	C	-													gcctcaccccacctgcagttCccccccgtgctcctatcctg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:43819857_43819857TC>T	uc001zrt.3	+	3	6653	c.6186_6186TC>T	c.(6184-6186)gttfs	p.V2062fs		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2062						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CACCTGCAGTTCCCCCCCGTG	0.612													-	43819858	C	-	43819858	7	5	21	1	0	1	0	1	0	0	0	0	9227	855	30	0	6189	0	MAP1A	15	43819858	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	1649137	43819858	58711534	482	20217											
DUOX1	53905	broad.mit.edu	37	chr15	45433228	45433228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaacaatttgtgcggctaCgggatggtgaccgctactgg	14	8	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:45433228C>T	uc001zus.1	+	14	1871	c.1525C>T	c.(1525-1527)CGG>TGG	p.R509W	DUOX1_uc001zut.1_Missense_Mutation_p.R509W|DUOX1_uc010bee.1_Translation_Start_Site	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	509	Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGTGCGGCTACGGGATGGTGA	0.612													T	45433228	C	T	45433228	3	4	21	1	0	0	0	0	1	0	0	0	4800	527	19	1	1571	1	DUOX1	15	45433228	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1613370	45433228	57098164	483	20218											
ALDH1A2	8854	broad.mit.edu	37	chr15	58256130	58256130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagggactccccactacgcGcctcttggcccgctccacgc	9	19	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:58256130G>A	uc002aex.2	-	9	1097	c.1039C>T	c.(1039-1041)CGC>TGC	p.R347C	ALDH1A2_uc002aey.2_Missense_Mutation_p.R309C|ALDH1A2_uc010ugv.1_Missense_Mutation_p.R326C|ALDH1A2_uc010ugw.1_Missense_Mutation_p.R318C|ALDH1A2_uc002aew.2_Missense_Mutation_p.R251C	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	347					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CCCACTACGCGCCTCTTGGCC	0.527													A	58256130	G	A	58256130	3	1	21	1	0	0	0	0	1	0	0	0	491	1087	38	1	537	1	ALDH1A2	15	58256130	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	12822902	58256130	44275262	484	20219											
RNF111	54778	broad.mit.edu	37	chr15	59376343	59376343	+	Frame_Shift_Del	DEL	C	C	-													tccaggcgggcacatgaacgCcccccaccccatccacatag							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:59376343delC	uc002afv.2	+	9	2592	c.2313delC	c.(2311-2313)CGCfs	p.R771fs	RNF111_uc002afs.2_Frame_Shift_Del_p.R771fs|RNF111_uc002aft.2_Frame_Shift_Del_p.R780fs|RNF111_uc002afu.2_Frame_Shift_Del_p.R770fs|RNF111_uc002afw.2_Frame_Shift_Del_p.R780fs|RNF111_uc002afx.2_Frame_Shift_Del_p.R297fs|RNF111_uc002afy.2_5'Flank	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	771	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)		CACATGAACGCCCCCCACCCC	0.443													-	59376343	C	-	59376343	7	5	21	1	0	1	0	1	0	0	0	0	13425	726	26	0	2343	0	RNF111	15	59376343	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	1120213	59376343	43155049	485	20220											
CSNK1G1	53944	broad.mit.edu	37	chr15	64496717	64496717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtctgtgaagagggtccGtaaatactcataatcaggtt	12	6	3	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:64496717G>A	uc002anf.2	-	9	1402	c.922C>T	c.(922-924)CGG>TGG	p.R308W	CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.R308W|CSNK1G1_uc002anh.1_Missense_Mutation_p.R308W|CSNK1G1_uc002anj.2_Missense_Mutation_p.R290W	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	308	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0						AAGAGGGTCCGTAAATACTCA	0.413													A	64496717	G	A	64496717	3	1	21	1	0	0	0	0	1	0	0	0	3954	1144	40	1	362	1	CSNK1G1	15	64496717	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	5120374	64496717	38034675	486	20221											
NPTN	27020	broad.mit.edu	37	chr15	73879916	73879916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctgacaaagtgatataCgcagtggtattcgcctgaat	11	8	0	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:73879916C>T	uc002avs.2	-	4	852	c.655G>A	c.(655-657)GTA>ATA	p.V219I	NPTN_uc010bjc.2_Missense_Mutation_p.V219I|NPTN_uc002avt.2_Missense_Mutation_p.V103I|NPTN_uc002avr.2_Missense_Mutation_p.V103I|NPTN_uc010ula.1_Intron	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	neuroplastin isoform b precursor	219	Ig-like 2.|Extracellular (Potential).				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding				0						AAGTGATATACGCAGTGGTAT	0.473													T	73879916	C	T	73879916	3	4	21	1	0	0	0	0	1	0	0	0	10601	536	19	1	561	1	NPTN	15	73879916	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	9383199	73879916	28651476	487	20222											
C15orf59	388135	broad.mit.edu	37	chr15	74043456	74043456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgcccgaggtccggggCgccccgaatgttcatcgttt	15	13	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:74043456C>T	uc002avy.2	-	1	361	c.16G>A	c.(16-18)GCC>ACC	p.A6T		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	hypothetical protein LOC388135	6										pancreas(1)	1						AGGTCCGGGGCGCCCCGAATG	0.672													T	74043456	C	T	74043456	3	4	21	1	0	0	0	0	1	0	0	0	1807	768	27	1	873	1	C15orf59	15	74043456	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	163540	74043456	28487936	488	20223											
LMAN1L	79748	broad.mit.edu	37	chr15	75112400	75112400	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagatgatcatgatgtccTgtccttcctgaccttcagcc	7	14	2	4			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:75112400T>C	uc002ayt.1	+	7	736	c.734T>C	c.(733-735)CTG>CCG	p.L245P	LMAN1L_uc010bkd.2_3'UTR|LMAN1L_uc010ulo.1_3'UTR|LMAN1L_uc010bke.1_Intron	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like precursor	245	Lumenal (Potential).|L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0						CATGATGTCCTGTCCTTCCTG	0.597													C	75112400	T	C	75112400	3	2	21	1	0	0	0	0	1	0	0	0	8837	1580	55	3	760	3	LMAN1L	15	75112400	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	1068944	75112400	27418992	489	20224											
SCAMP5	192683	broad.mit.edu	37	chr15	75309055	75309055	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcacaccctgctcctaCgtctgctggtttcggcccat	7	17	3	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:75309055C>T	uc002azk.1	+	4	420	c.258C>T	c.(256-258)TAC>TAT	p.Y86Y	SCAMP5_uc002azl.1_Silent_p.Y86Y|SCAMP5_uc002azm.1_Silent_p.Y86Y|SCAMP5_uc002azn.1_Silent_p.Y86Y|SCAMP5_uc010uly.1_Intron	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	86	Helical; (Potential).				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			ovary(1)	1						CCTGCTCCTACGTCTGCTGGT	0.587													T	75309055	C	T	75309055	2	4	21	1	0	0	0	0	0	0	0	1	13874	547	19	1		1	SCAMP5	15	75309055	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	196655	75309055	27222337	490	20225											
CSPG4	1464	broad.mit.edu	37	chr15	75981454	75981454	+	Frame_Shift_Del	DEL	G	G	-													ccaccaccttcagcgtggccGgggggctggcctgcagtcca					rs77773913	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:75981453_75981453CG>C	uc002baw.3	-	2	2046	c.1953_1953CG>G	c.(1951-1953)ccgfs	p.P651fs		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	651	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TCAGCGTGGCCGGGGGGCTGG	0.677													-	75981454	G	-	75981454	7	5	21	1	0	1	0	1	0	0	0	0	3960	1116	39	0	5048	0	CSPG4	15	75981454	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	672399	75981454	26549938	491	20226											
SH2D7	646892	broad.mit.edu	37	chr15	78393576	78393576	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgggatccctgggggctacCtggaggcaggagtttccaaa	15	9	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:78393576C>A	uc010blb.1	+	5	981	c.981C>A	c.(979-981)ACC>ACA	p.T327T		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	327											0						TGGGGGCTACCTGGAGGCAGG	0.612													A	78393576	C	A	78393576	2	1	21	1	0	0	0	0	0	0	0	1	14239	668	24	5		5	SH2D7	15	78393576	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	2412122	78393576	24137816	492	20227											
KIAA1199	57214	broad.mit.edu	37	chr15	81176682	81176682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaagcaaacacttcctgCaccttggatttaggtactgc	10	10	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:81176682C>T	uc002bfw.1	+	6	1044	c.784C>T	c.(784-786)CAC>TAC	p.H262Y	KIAA1199_uc010unn.1_Missense_Mutation_p.H262Y	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	262										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						ACACTTCCTGCACCTTGGATT	0.493													T	81176682	C	T	81176682	3	4	21	1	0	0	0	0	1	0	0	0	8213	710	25	2	802	2	KIAA1199	15	81176682	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	2783106	81176682	21354710	493	20228											
AP3B2	8120	broad.mit.edu	37	chr15	83331474	83331474	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaattcttggatgctgatGccagcaggcagtttgggagt	15	6	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:83331474G>A	uc010uoh.1	-	22	2925	c.2748C>T	c.(2746-2748)GGC>GGT	p.G916G	AP3B2_uc010uoi.1_Silent_p.G935G|AP3B2_uc010uoj.1_Silent_p.G884G|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Silent_p.G552G	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	916					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGATGCTGATGCCAGCAGGCA	0.572													A	83331474	G	A	83331474	2	1	21	1	0	0	0	0	0	0	0	1	745	1306	46	2		2	AP3B2	15	83331474	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	2154792	83331474	19199918	494	20229											
ALPK3	57538	broad.mit.edu	37	chr15	85400935	85400935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaggtgggggcagccaccgGaggtctggtgccctcagcca	16	14	2	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:85400935G>A	uc002ble.2	+	6	3739	c.3572G>A	c.(3571-3573)GGA>GAA	p.G1191E		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1191					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCAGCCACCGGAGGTCTGGTG	0.607													A	85400935	G	A	85400935	3	1	21	1	0	0	0	0	1	0	0	0	546	1174	41	4	3594	4	ALPK3	15	85400935	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	2069461	85400935	17130457	495	20230											
C15orf42	90381	broad.mit.edu	37	chr15	90168613	90168613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcccaggaggaagagggCggtgggctgtggcgccggct	21	10	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:90168613C>T	uc002boe.2	+	20	5072	c.5072C>T	c.(5071-5073)GCG>GTG	p.A1691V	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1691					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			AGGAAGAGGGCGGTGGGCTGT	0.602													T	90168613	C	T	90168613	3	4	21	1	0	0	0	0	1	0	0	0	1796	768	27	1	5150	1	C15orf42	15	90168613	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	4767678	90168613	12362779	496	20231											
ANPEP	290	broad.mit.edu	37	chr15	90342507	90342507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctggccaggttgaaggCgtcattaatgatctgtgccc	11	11	3	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:90342507C>T	uc002bop.3	-	14	2285	c.1993G>A	c.(1993-1995)GCC>ACC	p.A665T		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	665	Extracellular.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)|skin(1)	4	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	AGGTTGAAGGCGTCATTAATG	0.577													T	90342507	C	T	90342507	3	4	21	1	0	0	0	0	1	0	0	0	710	768	27	1	942	1	ANPEP	15	90342507	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	173894	90342507	12188885	497	20232											
RHBDF1	64285	broad.mit.edu	37	chr16	115006	115006	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgctgtccctgcgggccTcactcatggttcctggcaga	12	14	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:115006T>C	uc002cfl.3	-	5	156	c.8A>G	c.(7-9)GAG>GGG	p.E3G	RHBDF1_uc010uty.1_Missense_Mutation_p.E3G|RHBDF1_uc010utz.1_Missense_Mutation_p.E3G|RHBDF1_uc010bqo.1_RNA	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	3	Cytoplasmic (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CCTGCGGGCCTCACTCATGGT	0.592													C	115006	T	C	115006	3	2	21	1	0	0	0	0	1	0	0	0	13319	1551	54	3	2627	3	RHBDF1	16	115006	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08		115006	90239747	498	20233											
METRN	79006	broad.mit.edu	37	chr16	767234	767234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtaccccactgcgctgtggCgtccacccgggcccaggcac	12	19	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:767234C>T	uc002cjd.2	+	4	846	c.729C>T	c.(727-729)GGC>GGT	p.G243G	uc010bra.1_5'Flank	NM_024042	NP_076947	Q9UJH8	METRN_HUMAN	meteorin, glial cell differentiation regulator	243											0		Hepatocellular(780;0.00335)				TGCGCTGTGGCGTCCACCCGG	0.711													T	767234	C	T	767234	2	4	21	1	0	0	0	0	0	0	0	1	9488	755	27	1		1	METRN	16	767234	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	652228	767234	89587519	499	20234											
PTX4	390667	broad.mit.edu	37	chr16	1536245	1536245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaccagcctgcgatccaCgtggagccagtacctgccct	11	17	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:1536245C>T	uc010uvf.1	-	3	1117	c.1117G>A	c.(1117-1119)GTG>ATG	p.V373M		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	neuronal pentraxin II-like	378	Pentaxin.					extracellular region	metal ion binding				0						CTGCGATCCACGTGGAGCCAG	0.677													T	1536245	C	T	1536245	3	4	21	1	0	0	0	0	1	0	0	0	12823	536	19	1	307	1	PTX4	16	1536245	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	769011	1536245	88818508	500	20235											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1818554	1818554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccagctgcccctgcctcGgaggtcgagggccagaagct	16	14	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:1818554G>A	uc002cmk.2	+	31	3936	c.3816G>A	c.(3814-3816)TCG>TCA	p.S1272S	MAPK8IP3_uc002cml.2_Silent_p.S1266S|MAPK8IP3_uc010uvl.1_Silent_p.S1273S	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	1272					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						CCCCTGCCTCGGAGGTCGAGG	0.682													A	1818554	G	A	1818554	2	1	21	1	0	0	0	0	0	0	0	1	9286	1103	39	1		1	MAPK8IP3	16	1818554	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	282309	1818554	88536199	501	20236											
CLDN9	9080	broad.mit.edu	37	chr16	3063873	3063873	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctacctgggctgggcggcGgctgcactgcttatgctggg	16	12	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:3063873G>T	uc010uwo.1	+	1	1417	c.510G>T	c.(508-510)GCG>GCT	p.A170A		NM_020982	NP_066192	O95484	CLD9_HUMAN	claudin 9	170	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						GCTGGGCGGCGGCTGCACTGC	0.721													T	3063873	G	T	3063873	2	4	21	1	0	0	0	0	0	0	0	1	3492	1103	39	5		5	CLDN9	16	3063873	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1245319	3063873	87290880	502	20237											
ADCY9	115	broad.mit.edu	37	chr16	4016487	4016487	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcggtgttcagccctgaCgccgccatgtacgtggctcc	13	15	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:4016487C>T	uc002cvx.2	-	11	3890	c.3351G>A	c.(3349-3351)GCG>GCA	p.A1117A		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	1117	Guanylate cyclase 2.|Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						TCAGCCCTGACGCCGCCATGT	0.617													T	4016487	C	T	4016487	2	4	21	1	0	0	0	0	0	0	0	1	301	523	19	1		1	ADCY9	16	4016487	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	952614	4016487	86338266	503	20238											
MGRN1	23295	broad.mit.edu	37	chr16	4701983	4701983	+	Frame_Shift_Del	DEL	C	C	-													gtttccctacgtcactcctgCcccccacgagcccgtgaaga							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:4701982_4701982GC>G	uc002cxa.3	+	2	363	c.226_226GC>G	c.(226-228)gccfs	p.A76fs	MGRN1_uc002cwz.3_Frame_Shift_Del_p.A76fs|MGRN1_uc010uxo.2_Frame_Shift_Del_p.A76fs|MGRN1_uc010uxp.2_Frame_Shift_Del_p.A76fs|MGRN1_uc010btw.3_Frame_Shift_Del_p.A76fs|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	76					endosome to lysosome transport|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of cAMP-mediated signaling|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CGTCACTCCTGCCCCCCACGA	0.617													-	4701983	C	-	4701983	7	5	21	1	0	1	0	1	0	0	0	0	9559	739	26	0	237	0	MGRN1	16	4701983	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	685496	4701983	85652770	504	20239											
RRN3	54700	broad.mit.edu	37	chr16	15165070	15165070	+	Frame_Shift_Del	DEL	T	T	-													ggattacttgggtcctgcaaTtttttccagagatgttccaa							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:15165069_15165069AT>A	uc002dde.3	-	12	1236	c.1168_1168AT>T	c.(1168-1170)ttgfs	p.L390fs	PDXDC1_uc002ddc.3_Intron|RRN3_uc010uzp.2_Frame_Shift_Del_p.L258fs|RRN3_uc010uzq.2_Frame_Shift_Del_p.L360fs	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	Homo sapiens RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) (RRN3), mRNA.	390					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						GGGTCCTGCAATTTTTTCCAG	0.403													-	15165070	T	-	15165070	7	5	21	1	0	1	0	1	0	0	0	0	13684	1490	52	0	812	0	RRN3	16	15165070	Frame_Shift_Del	DEL	T	TCGA-BR-4363-01A-01D-1158-08	10463087	15165070	75189683	505	20240											
CLN3	1201	broad.mit.edu	37	chr16	28488902	28488902	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccgacagggagatccccaGtgtgtcagagatgcaggtgg	15	11	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:28488902G>T	uc002dpo.2	-	15	1575	c.1252C>A	c.(1252-1254)CTG>ATG	p.L418M	uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.L340M|CLN3_uc010vcu.1_Missense_Mutation_p.L318M|CLN3_uc002dpn.2_Missense_Mutation_p.L319M|CLN3_uc002dpm.2_Missense_Mutation_p.L364M|CLN3_uc010vcv.1_Missense_Mutation_p.L394M|CLN3_uc010byd.2_Missense_Mutation_p.L321M|CLN3_uc002dpp.2_Missense_Mutation_p.L418M|CLN3_uc002dpt.1_Missense_Mutation_p.L318M|CLN3_uc002dpq.1_Missense_Mutation_p.L370M|CLN3_uc010bye.1_Missense_Mutation_p.L401M|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Missense_Mutation_p.L291M|CLN3_uc002dpu.1_Missense_Mutation_p.L316M	NM_000086	NP_000077	Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	418	Helical; (Potential).				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding				0						GAGATCCCCAGTGTGTCAGAG	0.607													T	28488902	G	T	28488902	3	4	21	1	0	0	0	0	1	0	0	0	3543	1020	36	5	68	5	CLN3	16	28488902	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	13323832	28488902	61865851	506	20241											
SEZ6L2	26470	broad.mit.edu	37	chr16	29888645	29888645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggatttgggggcccgggcGgtgcctgaaactgcagtgtg	18	9	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:29888645G>A	uc002duq.3	-	11	2096	c.1856C>T	c.(1855-1857)CCG>CTG	p.P619L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.P549L|SEZ6L2_uc002dur.3_Missense_Mutation_p.P549L|SEZ6L2_uc002dus.3_Missense_Mutation_p.P505L|SEZ6L2_uc010vec.1_Missense_Mutation_p.P619L|SEZ6L2_uc010ved.1_Missense_Mutation_p.P575L	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	619	CUB 3.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						GGGCCCGGGCGGTGCCTGAAA	0.687													A	29888645	G	A	29888645	3	1	21	1	0	0	0	0	1	0	0	0	14144	1116	39	1	947	1	SEZ6L2	16	29888645	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1399743	29888645	60466108	507	20242											
SRCAP	10847	broad.mit.edu	37	chr16	30723591	30723591	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctctgacaggtaaagacGcccattcccctgcttctgcg	8	16	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:30723591G>A	uc002dze.1	+	13	2209	c.1824G>A	c.(1822-1824)ACG>ACA	p.T608T	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.T465T|SRCAP_uc010bzz.1_Silent_p.T178T	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	608					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			AGGTAAAGACGCCCATTCCCC	0.493													A	30723591	G	A	30723591	2	1	21	1	0	0	0	0	0	0	0	1	15134	1074	38	1		1	SRCAP	16	30723591	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	834946	30723591	59631162	508	20243											
SETD1A	9739	broad.mit.edu	37	chr16	30982823	30982823	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcctcatcctcctcctcctcCtcgtcctcatcctcctcgtc	2	23	2	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:30982823C>G	uc002ead.1	+	13	3827	c.3141C>G	c.(3139-3141)TCC>TCG	p.S1047S		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1047	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						cctcctcctcctcgtcctcat	0.413													G	30982823	C	G	30982823	2	3	21	1	0	0	0	0	0	0	0	1	14130	668	24	5		5	SETD1A	16	30982823	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	259232	30982823	59371930	509	20244											
ABCC11	85320	broad.mit.edu	37	chr16	48234332	48234332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggtcggaatagacggcgCgggccaggctgatcctctgt	16	11	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:48234332C>T	uc002eff.1	-	14	2287	c.1937G>A	c.(1936-1938)CGC>CAC	p.R646H	ABCC11_uc002efg.1_Missense_Mutation_p.R646H|ABCC11_uc002efh.1_Missense_Mutation_p.R646H|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	646	ABC transporter 1.|Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				ATAGACGGCGCGGGCCAGGCT	0.587									Cerumen_Type				T	48234332	C	T	48234332	3	4	21	1	0	0	0	0	1	0	0	0	51	768	27	1	2275	1	ABCC11	16	48234332	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	17251509	48234332	42120421	510	20245											
N4BP1	9683	broad.mit.edu	37	chr16	48577044	48577044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgagggagccagtggCttgaaggggctccctgaatc	16	10	0	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:48577044C>T	uc002efp.2	-	7	2699	c.2462G>A	c.(2461-2463)AGC>AAC	p.S821N		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Nedd4 binding protein 1	821					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body					0		all_cancers(37;0.179)|all_lung(18;0.11)				GAGCCAGTGGCTTGAAGGGGC	0.632													T	48577044	C	T	48577044	3	4	21	1	0	0	0	0	1	0	0	0	10109	797	28	2	232	2	N4BP1	16	48577044	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	342712	48577044	41777709	511	20246											
RBL2	5934	broad.mit.edu	37	chr16	53488589	53488589	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagccatcaataaggcctaTgaggagtatgttttatctgt	9	6	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:53488589T>C	uc002ehi.3	+	8	1132	c.1014T>C	c.(1012-1014)TAT>TAC	p.Y338Y	RBL2_uc010vgv.1_Silent_p.Y264Y|RBL2_uc002ehj.2_Silent_p.Y48Y|RBL2_uc010vgw.1_Silent_p.Y122Y	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	338					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						ATAAGGCCTATGAGGAGTATG	0.363													C	53488589	T	C	53488589	2	2	21	1	0	0	0	0	0	0	0	1	13110	1471	51	3		3	RBL2	16	53488589	Silent	SNP	T	TCGA-BR-4363-01A-01D-1158-08	4911545	53488589	36866164	512	20247											
CDH11	1009	broad.mit.edu	37	chr16	65006929	65006929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgtcgaggtcagtgtgaCgatcgatggaatacctaagc	12	8	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:65006929C>T	uc002eoi.2	-	9	1702	c.1268G>A	c.(1267-1269)CGT>CAT	p.R423H	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.R423H|CDH11_uc010vin.1_Missense_Mutation_p.R297H	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	423	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GTCAGTGTGACGATCGATGGA	0.373			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			T	65006929	C	T	65006929	3	4	21	1	0	0	0	0	1	0	0	0	3097	536	19	1	1142	1	CDH11	16	65006929	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	11518340	65006929	25347824	513	20248											
RANBP10	57610	broad.mit.edu	37	chr16	67762413	67762413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccatctccatctcactgtCgctgtggggaggggttgagg	14	11	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:67762413C>T	uc002eud.2	-	11	1470	c.1354G>A	c.(1354-1356)GAC>AAC	p.D452N	RANBP10_uc010ceo.2_Missense_Mutation_p.D223N|RANBP10_uc010vju.1_Missense_Mutation_p.D426N|RANBP10_uc010vjv.1_Missense_Mutation_p.D365N|RANBP10_uc010vjw.1_Missense_Mutation_p.D143N	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	452	Ser-rich.									ovary(1)	1		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ATCTCACTGTCGCTGTGGGGA	0.587													T	67762413	C	T	67762413	3	4	21	1	0	0	0	0	1	0	0	0	13026	898	31	1	524	1	RANBP10	16	67762413	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	2755484	67762413	22592340	514	20249											
TERF2	7014	broad.mit.edu	37	chr16	69390851	69390851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcgatccttaatcatcaCagctgttcggttaacaaatg	7	11	2	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:69390851C>T	uc002exd.2	-	10	1578	c.1453G>A	c.(1453-1455)GTG>ATG	p.V485M		NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	485	HTH myb-type.|H-T-H motif.				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			lung(1)	1		Ovarian(137;0.101)				TTAATCATCACAGCTGTTCGG	0.438													T	69390851	C	T	69390851	3	4	21	1	0	0	0	0	1	0	0	0	15759	478	17	4	53	4	TERF2	16	69390851	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1628438	69390851	20963902	515	20250											
MTSS1L	92154	broad.mit.edu	37	chr16	70708346	70708346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcgccaggctgcggtagcGacaggtggaactgggtgagt	18	9	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:70708346G>A	uc002ezj.2	-	11	1176	c.916C>T	c.(916-918)CGC>TGC	p.R306C		NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	306	Ser-rich.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1						CTGCGGTAGCGACAGGTGGAA	0.652													A	70708346	G	A	70708346	3	1	21	1	0	0	0	0	1	0	0	0	9963	1058	37	1	1347	1	MTSS1L	16	70708346	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1317495	70708346	19646407	516	20251											
PSMD7	5713	broad.mit.edu	37	chr16	74334988	74334988	+	Frame_Shift_Del	DEL	T	T	-													acaaagacgattctgtatggTttttagaccatgattatttg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:74334987_74334987GT>G	uc002fcq.3	+	2	344	c.204_204GT>G	c.(202-204)tggfs	p.W68fs	PSMD7_uc010vmr.2_5'UTR	NM_002811	NP_002802	P51665	PSD7_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (PSMD7), mRNA.	68	MPN.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						ATTCTGTATGGTTTTTAGACC	0.333													-	74334988	T	-	74334988	7	5	21	1	0	1	0	1	0	0	0	0	12703	1725	60	0	215	0	PSMD7	16	74334988	Frame_Shift_Del	DEL	T	TCGA-BR-4363-01A-01D-1158-08	3626642	74334988	16019765	517	20252											
PSMD7	5713	broad.mit.edu	37	chr16	74339301	74339301	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggagctacctggaaaaagtCgccacaggcaagctgcccat	11	12	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:74339301C>T	uc002fcq.2	+	7	777	c.645C>T	c.(643-645)GTC>GTT	p.V215V	PSMD7_uc010vmr.1_Silent_p.V138V	NM_002811	NP_002802	P51665	PSD7_HUMAN	proteasome 26S non-ATPase subunit 7	215					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding				0						TGGAAAAAGTCGCCACAGGCA	0.557													T	74339301	C	T	74339301	2	4	21	1	0	0	0	0	0	0	0	1	12703	871	31	1		1	PSMD7	16	74339301	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	4313	74339301	16015452	518	20253											
ADAMTS18	170692	broad.mit.edu	37	chr16	77353831	77353831	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctggtattcaaacgtggtcCcagcgaaggggaactcccca	12	12	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:77353831C>A	uc002ffc.3	-	16	2866	c.2447G>T	c.(2446-2448)GGG>GTG	p.G816V	ADAMTS18_uc010chc.1_Missense_Mutation_p.G404V|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G512V	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	816	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						AAACGTGGTCCCAGCGAAGGG	0.572													A	77353831	C	A	77353831	3	1	21	1	0	0	0	0	1	0	0	0	263	623	22	5	1250	5	ADAMTS18	16	77353831	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	3014530	77353831	13000922	519	20254											
KIAA0182	23199	broad.mit.edu	37	chr16	85682290	85682291	+	Frame_Shift_Ins	INS	-	-	C													ggccacagcgtgcccagcacINScccccccgtggtgaccatcg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:85682289_85682290A>AC	uc002fix.3	+	2	432_433	c.358_359A>AC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688													C	85682291	-	C	85682290	7	5	21	1	0	1	1	0	0	0	0	0	8159	507	18	0	369	0	KIAA0182	16	85682290	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	8328459	85682290	4672463	520	20255											
ZC3H18	124245	broad.mit.edu	37	chr16	88694459	88694459	+	Frame_Shift_Del	DEL	C	C	-													cctcgacaccccagcaggcaCcccccgggcagccccagcag							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:88694458_88694458AC>A	uc010voz.2	+	15	2672	c.2472_2472AC>A	c.(2470-2472)gcafs	p.A824fs	ZC3H18_uc002fky.3_Frame_Shift_Del_p.A800fs|ZC3H18_uc010chw.3_Intron|ZC3H18_uc002fkz.3_Frame_Shift_Del_p.A70fs	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	800						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCAGCAGGCACCCCCCGGGC	0.607													-	88694459	C	-	88694459	7	5	21	1	0	1	0	1	0	0	0	0	17565	507	18	0	2455	0	ZC3H18	16	88694459	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	3012169	88694459	1660294	521	20256											
CDH15	1013	broad.mit.edu	37	chr16	89258129	89258129	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtgaacgaccatgcacCtgtgctggccccgccgccgc	14	16	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:89258129C>A	uc002fmt.2	+	10	1519	c.1442C>A	c.(1441-1443)CCT>CAT	p.P481H		NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	481	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GACCATGCACCTGTGCTGGCC	0.731													A	89258129	C	A	89258129	3	1	21	1	0	0	0	0	1	0	0	0	3100	681	24	5	1480	5	CDH15	16	89258129	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	563670	89258129	1096624	522	20257											
SPG7	6687	broad.mit.edu	37	chr16	89592837	89592837	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatatcgaggccaaggacaGgatcccagtttcctacaagc	10	11	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:89592837G>T	uc002fnj.2	+	5	740	c.719G>T	c.(718-720)AGG>ATG	p.R240M	SPG7_uc002fni.2_Missense_Mutation_p.R240M	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	240	Mitochondrial intermembrane (Potential).				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GCCAAGGACAGGATCCCAGTT	0.428													T	89592837	G	T	89592837	3	4	21	1	0	0	0	0	1	0	0	0	15043	1000	35	5	737	5	SPG7	16	89592837	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	334708	89592837	761916	523	20258											
DBNDD1	79007	broad.mit.edu	37	chr16	90075763	90075763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacctcctcctccacaggcGtgtggccattgtcccctgtc	9	18	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:90075763G>A	uc002fqf.1	-	2	295	c.107C>T	c.(106-108)ACG>ATG	p.T36M	DBNDD1_uc002fqe.1_Missense_Mutation_p.T56M|DBNDD1_uc002fqg.1_RNA	NM_001042610	NP_001036075	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1)	36						cytoplasm					0		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		CTCCACAGGCGTGTGGCCATT	0.662													A	90075763	G	A	90075763	3	1	21	1	0	0	0	0	1	0	0	0	4253	1145	40	1	381	1	DBNDD1	16	90075763	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	482926	90075763	278990	524	20259											
OR3A2	4995	broad.mit.edu	37	chr17	3181654	3181654	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcaggagagctggaagagCtgtgggaggtcacagtagaa	18	5	1	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:3181654C>A	uc002fvg.2	-	1	615	c.576G>T	c.(574-576)CAG>CAT	p.Q192H		NM_002551	NP_002542	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A,	192	Extracellular (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GCTGGAAGAGCTGTGGGAGGT	0.542													A	3181654	C	A	3181654	3	1	21	1	0	0	0	0	1	0	0	0	11038	796	28	5	393	5	OR3A2	17	3181654	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08		3181654	78013556	525	20260											
MINK1	50488	broad.mit.edu	37	chr17	4796057	4796057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcactggagcggaaccgcGtgggaggtatgtgagccagg	18	9	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:4796057G>A	uc010vsl.1	+	19	2501	c.2305G>A	c.(2305-2307)GTG>ATG	p.V769M	MINK1_uc010vsk.1_Missense_Mutation_p.V732M|MINK1_uc010vsm.1_Missense_Mutation_p.V749M|MINK1_uc010vsn.1_Missense_Mutation_p.V732M|MINK1_uc010vso.1_Missense_Mutation_p.V677M|MINK1_uc010vsp.1_Missense_Mutation_p.V222M	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	769					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						GCGGAACCGCGTGGGAGGTAT	0.677													A	4796057	G	A	4796057	3	1	21	1	0	0	0	0	1	0	0	0	9587	1145	40	1	2118	1	MINK1	17	4796057	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1614403	4796057	76399153	526	20261											
PITPNM3	83394	broad.mit.edu	37	chr17	6367557	6367557	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcggcacattgtatgtgaTgcgaccactgctgttggtga	13	10	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:6367557T>C	uc002gdd.3	-	16	2240	c.2089A>G	c.(2089-2091)ATC>GTC	p.I697V	PITPNM3_uc010cln.2_Missense_Mutation_p.I661V|PITPNM3_uc010clm.2_Missense_Mutation_p.I180V|PITPNM3_uc002gdc.3_Missense_Mutation_p.I288V	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	697					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TTGTATGTGATGCGACCACTG	0.597													C	6367557	T	C	6367557	3	2	21	1	0	0	0	0	1	0	0	0	11952	1464	51	3	855	3	PITPNM3	17	6367557	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	1571500	6367557	74827653	527	20262											
PITPNM3	83394	broad.mit.edu	37	chr17	6381912	6381912	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggacttcaggaactctctGtagacctggttggctcgctc	12	11	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:6381912G>T	uc002gdd.3	-	7	883	c.732C>A	c.(730-732)TAC>TAA	p.Y244*	PITPNM3_uc010cln.2_Nonsense_Mutation_p.Y208*|PITPNM3_uc002gdc.3_5'UTR	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	244					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GGAACTCTCTGTAGACCTGGT	0.647													T	6381912	G	T	6381912	4	4	21	1	0	0	0	0	0	1	0	0	11952	1372	48	5	2248	5	PITPNM3	17	6381912	Nonsense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	14355	6381912	74813298	528	20263											
TXNDC17	84817	broad.mit.edu	37	chr17	6544415	6544417	+	In_Frame_Del	DEL	GAG	GAG	-													tcgtgccaatggcccgctatGaggaggtgagcgtgtccggc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:6544415_6544417delGAG	uc002gdf.3	+	1	194_196	c.13_15delGAG	c.(13-15)GAGdel	p.E6del	KIAA0753_uc002gde.3_5'Flank|KIAA0753_uc010vte.1_5'Flank	NM_032731	NP_116120	Q9BRA2	TXD17_HUMAN	thioredoxin-like 5	6					tumor necrosis factor-mediated signaling pathway	cytosol	electron carrier activity|peroxidase activity|protein binding|protein-disulfide reductase activity			ovary(1)	1						GGCCCGCTATGAGGAGGTGAGCG	0.65													-	6544417	GAG	-	6544415	7	5	21	1	0	1	0	1	0	0	0	0	16793	1291	45	0	15	0	TXNDC17	17	6544415	In_Frame_Del	DEL	GAG	TCGA-BR-4363-01A-01D-1158-08	162503	6544415	74650795	529	20264											
NLGN2	57555	broad.mit.edu	37	chr17	7320661	7320661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcaccgtggccgtgggtgCctccctcctcttcctcaaca	9	18	3	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:7320661C>T	uc002ggt.1	+	7	2124	c.2051C>T	c.(2050-2052)GCC>GTC	p.A684V	FGF11_uc010vtw.1_5'Flank	NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2 precursor	684	Helical; (Potential).				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)	1		Prostate(122;0.157)				GCCGTGGGTGCCTCCCTCCTC	0.701													T	7320661	C	T	7320661	3	4	21	1	0	0	0	0	1	0	0	0	10462	739	26	2	2077	2	NLGN2	17	7320661	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	776246	7320661	73874549	530	20265											
ZBTB4	57659	broad.mit.edu	37	chr17	7366997	7366997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggagaaaggggagcctccGgggctccctggctgtaggtc	17	10	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:7366997G>A	uc002ghc.3	-	4	1554	c.1304C>T	c.(1303-1305)CCG>CTG	p.P435L	ZBTB4_uc002ghd.3_Missense_Mutation_p.P435L	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	435	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GGGAGCCTCCGGGGCTCCCTG	0.662													A	7366997	G	A	7366997	3	1	21	1	0	0	0	0	1	0	0	0	17538	1116	39	1	1741	1	ZBTB4	17	7366997	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	46336	7366997	73828213	531	20266											
TP53	7157	broad.mit.edu	37	chr17	7577036	7577036	+	Frame_Shift_Del	DEL	G	G	-													tacctcgcttagtgctccctGggggcagctcgtggtgaggc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:7577036delG	uc002gim.2	-	8	1096	c.902delC	c.(901-903)CCAfs	p.P301fs	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.P301fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.P169fs|TP53_uc010cng.1_Frame_Shift_Del_p.P169fs|TP53_uc002gii.1_Frame_Shift_Del_p.P169fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P301fs|TP53_uc010cni.1_Frame_Shift_Del_p.P301fs|TP53_uc002gij.2_Frame_Shift_Del_p.P301fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	301	Interaction with HIPK1 (By similarity).|Interaction with CARM1.		P -> T (in a sporadic cancer; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P301fs*44(9)|p.0?(7)|p.G302fs*4(4)|p.?(3)|p.P301fs*5(3)|p.P301S(3)|p.P301_S303delPGS(1)|p.L299fs*2(1)|p.P301P(1)|p.L265_K305del41(1)|p.P301Q(1)|p.P301fs*45(1)|p.P301T(1)|p.G293fs*1(1)|p.P301L(1)|p.P301A(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGTGCTCCCTGGGGGCAGCTC	0.557		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			-	7577036	G	-	7577036	7	5	21	1	0	1	0	1	0	0	0	0	16378	1348	47	0	384	0	TP53	17	7577036	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	210039	7577036	73618174	532	20267											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	12	9	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:7578263G>A	uc002gim.2	-	6	780	c.586C>T	c.(586-588)CGA>TGA	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	196	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(125)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.R196L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R64*(1)|p.I195fs*12(1)|p.R103*(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTCCACTCGGATAAGATGC	0.552		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7578263	G	A	7578263	4	1	21	1	0	0	0	0	0	1	0	0	16378	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1227	7578263	73616947	533	20268											
DNAH2	146754	broad.mit.edu	37	chr17	7674152	7674152	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcatcacgctttgtcaaggcCtttgagaaggatgtggacca	12	9	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:7674152C>A	uc002giu.1	+	26	4277	c.4263C>A	c.(4261-4263)GCC>GCA	p.A1421A		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1421	TPR 1.|Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGTCAAGGCCTTTGAGAAGG	0.493													A	7674152	C	A	7674152	2	1	21	1	0	0	0	0	0	0	0	1	4602	668	24	5		5	DNAH2	17	7674152	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	95889	7674152	73521058	534	20269											
LSMD1	84316	broad.mit.edu	37	chr17	7760123	7760123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgtccgggtaccatggCcaggcccagcacacggggct	16	13	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:7760123C>T	uc002giz.2	-	3	403	c.304G>A	c.(304-306)GCC>ACC	p.A102T	LSMD1_uc002gja.2_Missense_Mutation_p.A150T|CYB5D1_uc010cnn.1_5'Flank|CYB5D1_uc002gjb.3_5'Flank			Q9BRA0	LSMD1_HUMAN	RecName: Full=LSM domain-containing protein 1; AltName: Full=Phosphonoformate immuno-associated protein 2;	102						cytoplasm|nucleus				ovary(1)	1		all_cancers(10;0.11)|Prostate(122;0.219)				GGTACCATGGCCAGGCCCAGC	0.587											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	7760123	C	T	7760123	3	4	21	1	0	0	0	0	1	0	0	0	9062	739	26	2	77	2	LSMD1	17	7760123	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	85971	7760123	73435087	535	20270											
MYH10	4628	broad.mit.edu	37	chr17	8409738	8409738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggtcctgcaggtcggtcGtctccccgtcgagttttctt	11	13	3	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:8409738G>A	uc002gll.2	-	25	3287	c.3191C>T	c.(3190-3192)ACG>ATG	p.T1064M	MYH10_uc002glm.2_Missense_Mutation_p.T1095M|MYH10_uc010cnx.2_Missense_Mutation_p.T1073M	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1064	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						CAGGTCGGTCGTCTCCCCGTC	0.532													A	8409738	G	A	8409738	3	1	21	1	0	0	0	0	1	0	0	0	10030	1145	40	1	2807	1	MYH10	17	8409738	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	649615	8409738	72785472	536	20271											
PIK3R6	146850	broad.mit.edu	37	chr17	8732080	8732080	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggggccatgcacgcttctTgatgccccctttgcgctgca	11	15	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:8732080T>C	uc002glq.1	-	11	1357	c.1117A>G	c.(1117-1119)AAG>GAG	p.K373E	PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	373					platelet activation	cytosol					0						GCACGCTTCTTGATGCCCCCT	0.687													C	8732080	T	C	8732080	3	2	21	1	0	0	0	0	1	0	0	0	11923	1821	63	3	1186	3	PIK3R6	17	8732080	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	322342	8732080	72463130	537	20272											
DNAH9	1770	broad.mit.edu	37	chr17	11511606	11511607	+	Frame_Shift_Ins	INS	-	-	A													cctcttccagcaggctcagaINSaaaaatggagtttgcggatt							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:11511605_11511606G>GA	uc002gne.3	+	1	645_646	c.577_578G>GA	c.(577-579)gaafs	p.E193fs	DNAH9_uc002gnd.1_Frame_Shift_Ins_p.E193fs	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	193	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGCAGGCTCAGAAAAAATGGAG	0.5													A	11511607	-	A	11511606	7	5	21	1	0	1	1	0	0	0	0	0	4608	246	9	0	584	0	DNAH9	17	11511606	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	2779526	11511606	69683604	538	20273											
DNAH9	1770	broad.mit.edu	37	chr17	11520904	11520904	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgggaaggctgactgtgCtgctccaggagatttgcaac	13	12	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:11520904C>T	uc002gne.2	+	5	1149	c.1081C>T	c.(1081-1083)CTG>TTG	p.L361L		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	361	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTGACTGTGCTGCTCCAGGA	0.617													T	11520904	C	T	11520904	2	4	21	1	0	0	0	0	0	0	0	1	4608	796	28	2		2	DNAH9	17	11520904	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	9298	11520904	69674306	539	20274											
PMP22	5376	broad.mit.edu	37	chr17	15134393	15134393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcagcactcatcacgcaCagacctggggaaggagaggg	15	12	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:15134393C>T	uc002goj.2	-	4	373	c.324G>A	c.(322-324)CTG>CTA	p.L108L	PMP22_uc002gok.2_Silent_p.L108L|PMP22_uc002gol.2_Silent_p.L108L	NM_153322	NP_696997	Q01453	PMP22_HUMAN	peripheral myelin protein 22	108	Helical; (By similarity).				peripheral nervous system development|synaptic transmission	integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		TCATCACGCACAGACCTGGGG	0.622													T	15134393	C	T	15134393	2	4	21	1	0	0	0	0	0	0	0	1	12139	465	17	4		4	PMP22	17	15134393	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	3613489	15134393	66060817	540	20275											
TRPV2	51393	broad.mit.edu	37	chr17	16332204	16332204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagtggtacctgcccctgCttgtgtctgcgctggtgctg	14	12	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:16332204C>T	uc002gpy.2	+	10	1862	c.1495C>T	c.(1495-1497)CTT>TTT	p.L499F	TRPV2_uc002gpz.2_Missense_Mutation_p.L69F	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	499	Helical; (Potential).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTGCCCCTGCTTGTGTCTGC	0.582													T	16332204	C	T	16332204	3	4	21	1	0	0	0	0	1	0	0	0	16593	797	28	2	1529	2	TRPV2	17	16332204	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1197811	16332204	64863006	541	20276											
MPRIP	23164	broad.mit.edu	37	chr17	17078646	17078646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagagatcacacggttgCggacgctgctgactggggac	15	11	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:17078646C>T	uc002gqu.1	+	19	2685	c.2629C>T	c.(2629-2631)CGG>TGG	p.R877W	MPRIP_uc002gqv.1_Missense_Mutation_p.R877W|MPRIP_uc002gqw.1_Missense_Mutation_p.R632W|MPRIP_uc002gqx.1_Missense_Mutation_p.R1106W|MPRIP_uc002gqy.1_Missense_Mutation_p.R1106W|MPRIP_uc010cpl.1_Intron|MPRIP_uc010cpm.1_Intron	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	877	Interaction with PPP1R12A.|Potential.					cytoplasm|cytoskeleton	actin binding				0						CACACGGTTGCGGACGCTGCT	0.627													T	17078646	C	T	17078646	3	4	21	1	0	0	0	0	1	0	0	0	9743	759	27	1	2703	1	MPRIP	17	17078646	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	746442	17078646	64116564	542	20277											
SLC5A10	125206	broad.mit.edu	37	chr17	18923663	18923663	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaaacaccccagaaacaCgccttctgggcccgtgtctg	10	16	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:18923663C>T	uc002guu.1	+	15	1751	c.1710C>T	c.(1708-1710)CAC>CAT	p.H570H	SLC5A10_uc002gur.1_Silent_p.H540H|SLC5A10_uc002gut.1_Silent_p.H586H|SLC5A10_uc002guv.1_Silent_p.H543H|SLC5A10_uc010vyl.1_Silent_p.H534H	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/glucose	570	Cytoplasmic (Potential).				sodium ion transport|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1						CCCAGAAACACGCCTTCTGGG	0.552													T	18923663	C	T	18923663	2	4	21	1	0	0	0	0	0	0	0	1	14662	535	19	1		1	SLC5A10	17	18923663	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1845017	18923663	62271547	543	20278											
NLK	51701	broad.mit.edu	37	chr17	26449711	26449711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatctggtctcttgcaaaAgggtcttccgggaattgaag	12	7	3	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:26449711A>G	uc010crj.2	+	2	753	c.541A>G	c.(541-543)AGG>GGG	p.R181G	NLK_uc010cri.1_RNA	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	nemo like kinase	181	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTCTTGCAAAAGGGTCTTCCG	0.398													G	26449711	A	G	26449711	3	3	21	1	0	0	0	0	1	0	0	0	10466	63	3	3	547	3	NLK	17	26449711	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	7526048	26449711	54745499	544	20279											
FOXN1	8456	broad.mit.edu	37	chr17	26854350	26854350	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctcccttgcagcatatgTactgctcctcccagcccccc	6	20	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:26854350T>C	uc010crm.2	+	4	868	c.670T>C	c.(670-672)TAC>CAC	p.Y224H	FOXN1_uc002hbj.2_Missense_Mutation_p.Y224H	NM_003593	NP_003584	O15353	FOXN1_HUMAN	forkhead box N1	224					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	Lung NSC(42;0.00431)					GCAGCATATGTACTGCTCCTC	0.587													C	26854350	T	C	26854350	3	2	21	1	0	0	0	0	1	0	0	0	6019	1638	57	3	680	3	FOXN1	17	26854350	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	404639	26854350	54340860	545	20280											
SSH2	85464	broad.mit.edu	37	chr17	27959375	27959376	+	Frame_Shift_Ins	INS	-	-	G													gaggacaaatgaatgttctgINSggggggcttcatcacttttc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:27959374_27959375T>TG	uc002heo.1	-	14	2756_2757	c.2756_2757A>CA	c.(2755-2757)ccafs	p.P919fs	SSH2_uc010wbh.1_Frame_Shift_Ins_p.P946fs	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	919					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.48													G	27959376	-	G	27959375	7	5	21	1	0	1	1	0	0	0	0	0	15184	1348	47	0	1519	0	SSH2	17	27959375	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	1105025	27959375	53235835	546	20281											
GOSR1	9527	broad.mit.edu	37	chr17	28811743	28811743	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgtcccctccttgaaTgcagccctgatgcatacatt	9	13	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:28811743T>C	uc002hfe.2	+	4	329	c.303T>C	c.(301-303)AAT>AAC	p.N101N	GOSR1_uc002hfd.2_Silent_p.N99N|GOSR1_uc002hff.2_Silent_p.N36N|GOSR1_uc002hfc.1_Silent_p.N101N	NM_004871	NP_004862	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1 isoform 1	101	Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity				0						CCTCCTTGAATGCAGCCCTGA	0.358													C	28811743	T	C	28811743	2	2	21	1	0	0	0	0	0	0	0	1	6577	1461	51	3		3	GOSR1	17	28811743	Silent	SNP	T	TCGA-BR-4363-01A-01D-1158-08	852368	28811743	52383467	547	20282											
TMEM132E	124842	broad.mit.edu	37	chr17	32964419	32964419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgccagaaaaccaaacGcaagagtgtgctcgccacga	11	12	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:32964419G>A	uc002hif.2	+	10	2451	c.2123G>A	c.(2122-2124)CGC>CAC	p.R708H		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	708	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		AAAACCAAACGCAAGAGTGTG	0.652													A	32964419	G	A	32964419	3	1	21	1	0	0	0	0	1	0	0	0	16045	1087	38	1	2161	1	TMEM132E	17	32964419	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	4152676	32964419	48230791	548	20283											
FBXO47	494188	broad.mit.edu	37	chr17	37099048	37099048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccaaagccaaaaagactaCgagccttgccagttcaatgg	8	11	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:37099048C>T	uc002hrc.2	-	9	1266	c.1066G>A	c.(1066-1068)GTA>ATA	p.V356I		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	F-box protein 47	356											0						AAAAAGACTACGAGCCTTGCC	0.403													T	37099048	C	T	37099048	3	4	21	1	0	0	0	0	1	0	0	0	5756	536	19	1	304	1	FBXO47	17	37099048	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	4134629	37099048	44096162	549	20284											
WNK4	65266	broad.mit.edu	37	chr17	40939870	40939870	+	Frame_Shift_Del	DEL	G	G	-													accctgcccttcagccccctGggggggtgccatccagcctg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:40939869_40939869TG>T	uc002ibj.3	+	7	1883	c.1815_1815TG>T	c.(1813-1815)cctfs	p.P605fs	WNK4_uc010wgx.2_Frame_Shift_Del_p.P269fs|WNK4_uc002ibk.1_Frame_Shift_Del_p.P377fs|WNK4_uc010wgy.1_Intron	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	605					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.L605I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCAGCCCCCTGGGGGGGTGC	0.632													-	40939870	G	-	40939870	7	5	21	1	0	1	0	1	0	0	0	0	17377	1348	47	0	1846	0	WNK4	17	40939870	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	3840822	40939870	40255340	550	20285											
WNK4	65266	broad.mit.edu	37	chr17	40940150	40940150	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccttatcctgtttcaggcTtttgccctatccattccacg	5	15	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:40940150T>C	uc002ibj.2	+	9	1887	c.1866T>C	c.(1864-1866)GCT>GCC	p.A622A	WNK4_uc010wgx.1_Silent_p.A286A|WNK4_uc002ibk.1_Silent_p.A394A|WNK4_uc010wgy.1_5'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	622					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TGTTTCAGGCTTTTGCCCTAT	0.522													C	40940150	T	C	40940150	2	2	21	1	0	0	0	0	0	0	0	1	17377	1596	56	3		3	WNK4	17	40940150	Silent	SNP	T	TCGA-BR-4363-01A-01D-1158-08	280	40940150	40255060	551	20286											
BECN1	8678	broad.mit.edu	37	chr17	40970864	40970864	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgcctccccaatcagagTgaagctgttggcactttctg	10	11	2	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:40970864T>G	uc002ibo.3	-	5	427	c.292A>C	c.(292-294)ACT>CCT	p.T98P	BECN1_uc010whb.1_Missense_Mutation_p.T11P|BECN1_uc010whc.1_Intron|BECN1_uc002ibn.2_Missense_Mutation_p.T98P	NM_003766	NP_003757	Q14457	BECN1_HUMAN	beclin 1	98					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			ovary(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CCAATCAGAGTGAAGCTGTTG	0.597													G	40970864	T	G	40970864	3	3	21	1	0	0	0	0	1	0	0	0	1396	1696	59	5	1092	5	BECN1	17	40970864	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	30714	40970864	40224346	552	20287											
AOC2	314	broad.mit.edu	37	chr17	40997723	40997723	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctatgaagtcagtgtccaGgagtgtgtatctatctatgg	12	7	3	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:40997723G>T	uc002ibu.2	+	1	1115	c.1080G>T	c.(1078-1080)CAG>CAT	p.Q360H	AOC2_uc002ibt.2_Missense_Mutation_p.Q360H	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	360					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			ovary(2)	2		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCAGTGTCCAGGAGTGTGTAT	0.527													T	40997723	G	T	40997723	3	4	21	1	0	0	0	0	1	0	0	0	727	991	35	5	1082	5	AOC2	17	40997723	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	26859	40997723	40197487	553	20288											
ARL4D	379	broad.mit.edu	37	chr17	41477611	41477611	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgtgcaaggctgcagcgctGtggacggtctgggcctgcag	17	10	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:41477611G>C	uc002idt.2	+	2	692	c.511G>C	c.(511-513)GTG>CTG	p.V171L		NM_001661	NP_001652	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	171					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)	1		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CTGCAGCGCTGTGGACGGTCT	0.632													C	41477611	G	C	41477611	3	2	21	1	0	0	0	0	1	0	0	0	938	1377	48	5	513	5	ARL4D	17	41477611	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	479888	41477611	39717599	554	20289											
DHX8	1659	broad.mit.edu	37	chr17	41568548	41568548	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaagatccagttgttaaacCtaaaacagaaaaagaaaagc	6	7	0	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:41568548C>A	uc002idu.1	+	4	396	c.323C>A	c.(322-324)CCT>CAT	p.P108H	DHX8_uc010wif.1_Missense_Mutation_p.P17H|DHX8_uc010wig.1_Missense_Mutation_p.P108H	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	108						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GTTGTTAAACCTAAAACAGAA	0.328													A	41568548	C	A	41568548	3	1	21	1	0	0	0	0	1	0	0	0	4515	681	24	5	337	5	DHX8	17	41568548	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	90937	41568548	39626662	555	20290											
SLC4A1	6521	broad.mit.edu	37	chr17	42337271	42337272	+	Frame_Shift_Ins	INS	-	-	C													caggactgcaggcttcacacINScccccagggcctccagctct					rs139653615		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:42337270_42337271A>AC	uc002igf.4	-	6	664_665	c.515_516T>GT	c.(514-516)ggtfs	p.G172fs	SLC4A1_uc021tyc.1_Frame_Shift_Ins_p.G172fs	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	172					bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.G172V(2)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAGGCTTCACACCCCCCAGGGC	0.604													C	42337272	-	C	42337271	7	5	21	1	0	1	1	0	0	0	0	0	14650	507	18	0	2276	0	SLC4A1	17	42337271	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	768723	42337271	38857939	556	20291											
FMNL1	752	broad.mit.edu	37	chr17	43314678	43314678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttgtcatgaaccacccaGcctgtgtcaatgagattgct	9	12	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:43314678G>A	uc002iin.2	+	8	954	c.754G>A	c.(754-756)GCC>ACC	p.A252T		NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	252	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						GAACCACCCAGCCTGTGTCAA	0.403													A	43314678	G	A	43314678	3	1	21	1	0	0	0	0	1	0	0	0	5951	971	34	2	784	2	FMNL1	17	43314678	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	977407	43314678	37880532	557	20292											
FAM117A	81558	broad.mit.edu	37	chr17	47799955	47799955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcttgccaggacaggggcGtctgcagggagagaaacaca	15	10	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:47799955G>A	uc002ipk.2	-	3	437	c.368C>T	c.(367-369)ACG>ATG	p.T123M	FAM117A_uc010wlz.1_Translation_Start_Site	NM_030802	NP_110429	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	123										ovary(1)	1						GGACAGGGGCGTCTGCAGGGA	0.577													A	47799955	G	A	47799955	3	1	21	1	0	0	0	0	1	0	0	0	5409	1159	40	1	1017	1	FAM117A	17	47799955	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	4485277	47799955	33395255	558	20293											
ACSF2	80221	broad.mit.edu	37	chr17	48539865	48539865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtggtggcggctggcagCacacggcagcatctggacca	16	11	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:48539865C>T	uc002iqu.2	+	6	815	c.711C>T	c.(709-711)AGC>AGT	p.S237S	ACSF2_uc010wml.1_Silent_p.S194S|ACSF2_uc010wmm.1_Silent_p.S262S|ACSF2_uc010wmn.1_Silent_p.S224S|ACSF2_uc010wmo.1_Silent_p.S77S	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2 precursor	237					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CGGCTGGCAGCACACGGCAGC	0.612													T	48539865	C	T	48539865	2	4	21	1	0	0	0	0	0	0	0	1	175	709	25	2		2	ACSF2	17	48539865	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	739910	48539865	32655345	559	20294											
VEZF1	7716	broad.mit.edu	37	chr17	56056587	56056588	+	In_Frame_Ins	INS	-	-	TGT													ccctggccagcttgtcacatINSgttgttgttgttgttgttgc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:56056586_56056587A>ATGT	uc002ivf.1	-	4	1207_1208	c.1064_1065T>ACAT	c.(1063-1065)cat>cACAT	p.H355H	VEZF1_uc010dcn.1_In_Frame_Ins_p.H205H	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.	355					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						AGCTTGTCACAtgttgttgttg	0.475													TGT	56056588	-	TGT	56056587	7	5	21	1	0	1	1	0	0	0	0	0	17152	1464	51	0	509	0	VEZF1	17	56056587	In_Frame_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	7516722	56056587	25138623	560	20295											
BZRAP1	9256	broad.mit.edu	37	chr17	56389796	56389796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttgaggaccaccagacGgcgggggtaaggcacggcag	17	11	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:56389796G>A	uc002ivx.3	-	17	3257	c.2386C>T	c.(2386-2388)CGT>TGT	p.R796C	BZRAP1_uc010dcs.2_Missense_Mutation_p.R736C|BZRAP1_uc010wnt.1_Missense_Mutation_p.R796C	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	796	Fibronectin type-III 1.					mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACCACCAGACGGCGGGGGTAA	0.662													A	56389796	G	A	56389796	3	1	21	1	0	0	0	0	1	0	0	0	1577	1116	39	1	3247	1	BZRAP1	17	56389796	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	333209	56389796	24805414	561	20296											
APPBP2	10513	broad.mit.edu	37	chr17	58541474	58541474	+	Splice_Site	DEL	A	A	-													gatgcaccatttgtatgcctAaaaaaattatttatagaaga							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:58541473_58541473TA>T	uc002iys.1	-	6	961	c.673_splice	c.e6-1	p.A225_splice	APPBP2_uc010ddl.1_Splice_Site_p.A154_splice	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	225					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TTTGTATGCCTAAAAAAATTA	0.323													-	58541474	A	-	58541474	8	5	21	1	0	1	0	1	0	0	1	0	816	377	13	0		0	APPBP2	17	58541474	Splice_Site	DEL	A	TCGA-BR-4363-01A-01D-1158-08	2151678	58541474	22653736	562	20297											
SOX9	6662	broad.mit.edu	37	chr17	70119910	70119910	+	Frame_Shift_Del	DEL	G	G	-													ctgccgcccaacggccacccGggggtgccggccacgcacgg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:70119909_70119909CG>C	uc002jiw.3	+	2	1283	c.911_911CG>C	c.(910-912)ccgfs	p.P304fs	AK094963_uc002jiv.3_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	304					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			AACGGCCACCCGGGGGTGCCG	0.682													-	70119910	G	-	70119910	7	5	21	1	0	1	0	1	0	0	0	0	14958	1103	39	0	922	0	SOX9	17	70119910	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	11578436	70119910	11075300	563	20298											
CASKIN2	57513	broad.mit.edu	37	chr17	73498994	73498994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggggctgggatctccacCgctgggctgtggggcaggct	21	10	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:73498994C>T	uc002joc.2	-	18	2711	c.2161G>A	c.(2161-2163)GGT>AGT	p.G721S	CASKIN2_uc010wsc.1_Missense_Mutation_p.G639S	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	721	Pro-rich.					cytoplasm				pancreas(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGATCTCCACCGCTGGGCTGT	0.677													T	73498994	C	T	73498994	3	4	21	1	0	0	0	0	1	0	0	0	2667	652	23	1	1459	1	CASKIN2	17	73498994	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	3379084	73498994	7696216	564	20299											
TBCD	6904	broad.mit.edu	37	chr17	80714084	80714084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctcatctgttggacccGcaccttggtaagaatagaag	10	11	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:80714084G>A	uc002kfz.2	+	2	358	c.228G>A	c.(226-228)CCG>CCA	p.P76P	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Silent_p.P76P	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	76					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TGTTGGACCCGCACCTTGGTA	0.433													A	80714084	G	A	80714084	2	1	21	1	0	0	0	0	0	0	0	1	15630	1074	38	1		1	TBCD	17	80714084	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	7215090	80714084	481126	565	20300											
USP14	9097	broad.mit.edu	37	chr18	211160	211160	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gattaagtttgatgatgacaAagtcagcatcgtaacaccag	9	7	1	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr18:211160A>C	uc002kkf.1	+	16	1577	c.1361A>C	c.(1360-1362)AAA>ACA	p.K454T	USP14_uc002kkg.1_Missense_Mutation_p.K419T|USP14_uc010wyr.1_Missense_Mutation_p.K443T	NM_005151	NP_005142	P54578	UBP14_HUMAN	ubiquitin specific protease 14 isoform a	454					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)	2		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				GATGATGACAAAGTCAGCATC	0.403													C	211160	A	C	211160	3	2	21	1	0	0	0	0	1	0	0	0	17042	14	1	5	1423	5	USP14	18	211160	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08		211160	77866088	566	20301											
ESCO1	114799	broad.mit.edu	37	chr18	19154750	19154750	+	Frame_Shift_Del	DEL	T	T	-													ttctgaattcttatcgtcacTttttttagtaactttggagg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr18:19154749_19154749CT>C	uc002kth.1	-	3	990	c.56_56AG>G	c.(55-57)agtfs	p.S19fs	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae) (ESCO1), mRNA.	19					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						CTTATCGTCACTTTTTTTAGT	0.333													-	19154750	T	-	19154750	7	5	21	1	0	1	0	1	0	0	0	0	5248	1609	56	0	2503	0	ESCO1	18	19154750	Frame_Shift_Del	DEL	T	TCGA-BR-4363-01A-01D-1158-08	18943590	19154750	58922498	567	20302											
FAM59A	64762	broad.mit.edu	37	chr18	29867460	29867460	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgagcgaattgggcacgTggttgtggccagagcaccga	16	9	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr18:29867460T>C	uc002kxl.2	-	4	1156	c.1100A>G	c.(1099-1101)CAC>CGC	p.H367R	FAM59A_uc002kxk.1_Missense_Mutation_p.H367R	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	367										ovary(1)|skin(1)	2						ATTGGGCACGTGGTTGTGGCC	0.552													C	29867460	T	C	29867460	3	2	21	1	0	0	0	0	1	0	0	0	5592	1696	59	3	1539	3	FAM59A	18	29867460	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	10712710	29867460	48209788	568	20303											
SETBP1	26040	broad.mit.edu	37	chr18	42531918	42531918	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccccagcgacagcggcatTgggacagacaacaacagcac	10	14	0	1	rs36110095		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr18:42531918T>C	uc010dni.2	+	4	2909	c.2613T>C	c.(2611-2613)ATT>ATC	p.I871I		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	871			I -> T (in SGMFS).			nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACAGCGGCATTGGGACAGACA	0.567									Schinzel-Giedion_syndrome				C	42531918	T	C	42531918	2	2	21	1	0	0	0	0	0	0	0	1	14129	1800	63	3		3	SETBP1	18	42531918	Silent	SNP	T	TCGA-BR-4363-01A-01D-1158-08	12664458	42531918	35545330	569	20304											
KIAA0427	9811	broad.mit.edu	37	chr18	46385731	46385731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctgcagagtacaggccGgctgctggaggaacagctgc	16	11	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr18:46385731G>A	uc002ldc.2	+	12	1883	c.1598G>A	c.(1597-1599)CGG>CAG	p.R533Q	KIAA0427_uc002ldd.2_Missense_Mutation_p.R535Q|KIAA0427_uc002lde.3_Missense_Mutation_p.R162Q	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	533	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						AGTACAGGCCGGCTGCTGGAG	0.632													A	46385731	G	A	46385731	3	1	21	1	0	0	0	0	1	0	0	0	8176	1116	39	1	1646	1	KIAA0427	18	46385731	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	3853813	46385731	31691517	570	20305											
DCC	1630	broad.mit.edu	37	chr18	50278508	50278508	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggggaggaaatgtcctccTcgactgctccgcggagtccg	15	13	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr18:50278508T>C	uc002lfe.1	+	2	763	c.176T>C	c.(175-177)CTC>CCC	p.L59P	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	59	Extracellular (Potential).|Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AATGTCCTCCTCGACTGCTCC	0.507													C	50278508	T	C	50278508	3	2	21	1	0	0	0	0	1	0	0	0	4282	1551	54	3	182	3	DCC	18	50278508	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	3892777	50278508	27798740	571	20306											
TCF4	6925	broad.mit.edu	37	chr18	52895520	52895520	+	Frame_Shift_Del	DEL	G	G	-													gtgggccggccaaggagagaGggggaggctctgaggacacc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr18:52895519_52895519AG>A	uc002lga.3	-	19	2319	c.2259_2259CT>T	c.(2257-2259)cctfs	p.P753fs	TCF4_uc021ukg.1_Frame_Shift_Del_p.P487fs|TCF4_uc021ukh.1_Frame_Shift_Del_p.P487fs|TCF4_uc002lfw.4_Frame_Shift_Del_p.P491fs|TCF4_uc010xdu.1_Frame_Shift_Del_p.P517fs|TCF4_uc010xdv.1_Frame_Shift_Del_p.P517fs|TCF4_uc021uki.1_Frame_Shift_Del_p.P576fs|TCF4_uc002lfx.2_Frame_Shift_Del_p.P580fs|TCF4_uc010xdw.1_Frame_Shift_Del_p.P517fs|TCF4_uc002lfy.2_Frame_Shift_Del_p.P605fs|TCF4_uc010xdx.1_Frame_Shift_Del_p.P623fs|TCF4_uc021ukj.1_Frame_Shift_Del_p.P587fs|TCF4_uc021ukk.1_Frame_Shift_Del_p.P591fs|TCF4_uc021ukl.1_Frame_Shift_Del_p.P644fs|TCF4_uc002lfz.2_Frame_Shift_Del_p.P647fs|TCF4_uc010dph.1_Frame_Shift_Del_p.P651fs|TCF4_uc010dpi.3_Frame_Shift_Del_p.P657fs|TCF4_uc010xdy.1_Frame_Shift_Del_p.P627fs	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	647					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CCAAGGAGAGAGGGGGAGGCT	0.502													-	52895520	G	-	52895520	7	5	21	1	0	1	0	1	0	0	0	0	15692	1000	35	0	67	0	TCF4	18	52895520	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	2617012	52895520	25181728	572	20307											
ZNF407	55628	broad.mit.edu	37	chr18	72776341	72776341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagagcagctggccagcGtggtcatctacacccaggag	15	12	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr18:72776341G>A	uc002llw.2	+	8	6721	c.6664G>A	c.(6664-6666)GTG>ATG	p.V2222M		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	2222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCTGGCCAGCGTGGTCATCTA	0.662													A	72776341	G	A	72776341	3	1	21	1	0	0	0	0	1	0	0	0	17884	1145	40	1	6824	1	ZNF407	18	72776341	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	19880821	72776341	5300907	573	20308											
ZNF236	7776	broad.mit.edu	37	chr18	74649233	74649233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgctagtgtcacgctgacGctggccgatactcagggtat	13	11	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr18:74649233G>A	uc002lmi.2	+	26	4908	c.4710G>A	c.(4708-4710)ACG>ACA	p.T1570T	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1570					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCACGCTGACGCTGGCCGATA	0.577													A	74649233	G	A	74649233	2	1	21	1	0	0	0	0	0	0	0	1	17786	1074	38	1		1	ZNF236	18	74649233	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1872892	74649233	3428015	574	20309											
HCN2	610	broad.mit.edu	37	chr19	605189	605189	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatgctgcaggacttcccGcgcaactgctgggtgtccat	11	14	0	0	rs139997813	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:605189G>A	uc002lpe.2	+	3	1238	c.1185G>A	c.(1183-1185)CCG>CCA	p.P395P		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic	395	Extracellular (Potential).				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGACTTCCCGCGCAACTGCT	0.652													A	605189	G	A	605189	2	1	21	1	0	0	0	0	0	0	0	1	6997	1074	38	1		1	HCN2	19	605189	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08		605189	58523794	575	20310											
ELANE	1991	broad.mit.edu	37	chr19	852928	852928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgagcgcggccccacgcGtggcccttcatggtgtccct	14	17	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:852928G>A	uc002lqb.2	+	2	158	c.120G>A	c.(118-120)GCG>GCA	p.A40A		NM_001972	NP_001963	P08246	ELNE_HUMAN	neutrophil elastase preproprotein	40	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			pancreas(1)	1					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGCCCCACGCGTGGCCCTTCA	0.716									Kostmann_syndrome				A	852928	G	A	852928	2	1	21	1	0	0	0	0	0	0	0	1	5048	1132	40	1		1	ELANE	19	852928	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	247739	852928	58276055	576	20311											
STK11	6794	broad.mit.edu	37	chr19	1207077	1207077	+	Frame_Shift_Del	DEL	G	G	-													tacctgatgggggacctgctGggggaaggctcttacggcaa					rs121913319		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:1207076_1207076TG>T	uc002lrl.1	+	0	1279	c.164_164TG>T	c.(163-165)ctgfs	p.L55fs		NM_000455	NP_000446	Q15831	STK11_HUMAN	Homo sapiens serine/threonine kinase 11 (STK11), mRNA.	55	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)|p.G52_P179del(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGACCTGCTGGGGGAAGGC	0.602		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			-	1207077	G	-	1207077	7	5	21	1	0	1	0	1	0	0	0	0	15286	1335	47	0	167	0	STK11	19	1207077	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	354149	1207077	57921906	577	20312											
LMNB2	84823	broad.mit.edu	37	chr19	2435142	2435142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacctccaccaggcgccgctCgtgccgccgccgcgtctccc	10	23	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:2435142C>T	uc002lvy.2	-	5	739	c.652G>A	c.(652-654)GAG>AAG	p.E218K	LMNB2_uc002lwa.1_Missense_Mutation_p.E238K	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	218	Rod.|Linker 2.					nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCGCCGCTCGTGCCGCCGC	0.687													T	2435142	C	T	2435142	3	4	21	1	0	0	0	0	1	0	0	0	8850	893	31	1	1182	1	LMNB2	19	2435142	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1228065	2435142	56693841	578	20313											
DPP9	91039	broad.mit.edu	37	chr19	4704312	4704312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagaccccatggtggggcGtggcctggaaacatacaggg	16	9	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:4704312G>A	uc002mba.2	-	6	689	c.431C>T	c.(430-432)ACG>ATG	p.T144M	DPP9_uc002mbb.2_Missense_Mutation_p.T144M|DPP9_uc002mbc.2_Missense_Mutation_p.T144M	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9	115					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		ATGGTGGGGCGTGGCCTGGAA	0.647													A	4704312	G	A	4704312	3	1	21	1	0	0	0	0	1	0	0	0	4733	1145	40	1	2315	1	DPP9	19	4704312	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	2269170	4704312	54424671	579	20314											
UHRF1	29128	broad.mit.edu	37	chr19	4941597	4941597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgaagtcttcaagattgaGcggccgggtgaagggagccc	16	9	2	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:4941597G>A	uc002mbo.2	+	6	1011	c.843G>A	c.(841-843)GAG>GAA	p.E281E	UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Silent_p.E294E	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	281					cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TCAAGATTGAGCGGCCGGGTG	0.602													A	4941597	G	A	4941597	2	1	21	1	0	0	0	0	0	0	0	1	16964	962	34	2		2	UHRF1	19	4941597	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	237285	4941597	54187386	580	20315											
RFX2	5990	broad.mit.edu	37	chr19	6004312	6004312	+	Splice_Site	DEL	G	G	-													tggcctgtgtcaaggtacctGggggatacagaccatgatat							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:6004311_6004311TG>T	uc002meb.3	-	13	1672	c.1403_splice	c.e13-1	p.S468_splice	RFX2_uc002mec.3_Splice_Site_p.S443_splice	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCAAGGTACCTGGGGGATACA	0.507													-	6004312	G	-	6004312	8	5	21	1	0	1	0	1	0	0	1	0	13263	1363	47	0		0	RFX2	19	6004312	Splice_Site	DEL	G	TCGA-BR-4363-01A-01D-1158-08	1062715	6004312	53124671	581	20316											
ALKBH7	84266	broad.mit.edu	37	chr19	6374970	6374970	+	Frame_Shift_Del	DEL	C	C	-													caggggagtctggacagccgCccccagcctgctgaccccca							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:6374969_6374969GC>G	uc002meo.2	+	3	1039	c.651_651GC>G	c.(649-651)ccgfs	p.P217fs		NM_032306	NP_115682	Q9BT30	ALKB7_HUMAN	Homo sapiens alkB, alkylation repair homolog 7 (E. coli) (ALKBH7), mRNA.	217						extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CTGGACAGCCGCCCCCAGCCT	0.617													-	6374970	C	-	6374970	7	5	21	1	0	1	0	1	0	0	0	0	532	739	26	0	666	0	ALKBH7	19	6374970	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	370658	6374970	52754013	582	20317											
XAB2	56949	broad.mit.edu	37	chr19	7690872	7690872	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcggatgatggcgtccacaTtgagggactgtaccttgtcc	13	11	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:7690872T>C	uc002mgx.2	-	6	742	c.716A>G	c.(715-717)AAT>AGT	p.N239S		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	239	HAT 7.				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						GGCGTCCACATTGAGGGACTG	0.627								Direct_reversal_of_damage|NER					C	7690872	T	C	7690872	3	2	21	1	0	0	0	0	1	0	0	0	17415	1493	52	3	1907	3	XAB2	19	7690872	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	1315902	7690872	51438111	583	20318											
PCP2	126006	broad.mit.edu	37	chr19	7697386	7697386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccatgaggctgtccatctCgggggtggggtcgctctctg	16	11	2	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:7697386C>T	uc002mgz.2	-	3	411	c.184G>A	c.(184-186)GAG>AAG	p.E62K	XAB2_uc002mgx.2_5'Flank	NM_174895	NP_777555	Q8IVA1	PCP2_HUMAN	Purkinje cell protein 2	62					signal transduction		GTPase activator activity				0						CTGTCCATCTCGGGGGTGGGG	0.657													T	7697386	C	T	7697386	3	4	21	1	0	0	0	0	1	0	0	0	11597	893	31	1	234	1	PCP2	19	7697386	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	6514	7697386	51431597	584	20319											
OR7D4	125958	broad.mit.edu	37	chr19	9325158	9325158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccacaaaccggtcatagGccatcacggccagtaggaaa	11	12	2	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:9325158G>A	uc002mla.1	-	1	356	c.356C>T	c.(355-357)GCC>GTC	p.A119V		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						CCGGTCATAGGCCATCACGGC	0.517													A	9325158	G	A	9325158	3	1	21	1	0	0	0	0	1	0	0	0	11220	1203	42	2	586	2	OR7D4	19	9325158	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1627772	9325158	49803825	585	20320											
EPOR	2057	broad.mit.edu	37	chr19	11488894	11488894	+	Frame_Shift_Del	DEL	G	G	-													ggacgcaagagctgggagctGgggtccaggatagtgtactc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:11488894delG	uc002mrj.1	-	8	1429	c.1293delC	c.(1291-1293)CCCfs	p.P431fs	EPOR_uc002mrh.2_Frame_Shift_Del_p.P90fs|EPOR_uc002mri.2_Frame_Shift_Del_p.P258fs|EPOR_uc002mrk.1_Frame_Shift_Del_p.P258fs|EPOR_uc002mrl.1_RNA|EPOR_uc010xlx.1_RNA|EPOR_uc010xly.1_Frame_Shift_Del_p.P258fs	NM_000121	NP_000112	P19235	EPOR_HUMAN	erythropoietin receptor precursor	431	Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			ovary(1)	1					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GCTGGGAGCTGGGGTCCAGGA	0.582											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	11488894	G	-	11488894	7	5	21	1	0	1	0	1	0	0	0	0	5189	1335	47	0	237	0	EPOR	19	11488894	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	2163736	11488894	47640089	586	20321											
TNPO2	30000	broad.mit.edu	37	chr19	12821569	12821569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattggcgaggacgtccagtGcagccgctgagcacttccct	12	14	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:12821569G>A	uc002muo.2	-	12	1321	c.1136C>T	c.(1135-1137)GCA>GTA	p.A379V	TNPO2_uc002mup.2_Missense_Mutation_p.A471V|TNPO2_uc002muq.2_Missense_Mutation_p.A379V|TNPO2_uc002mur.2_Missense_Mutation_p.A379V	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	379					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						GACGTCCAGTGCAGCCGCTGA	0.647													A	12821569	G	A	12821569	3	1	21	1	0	0	0	0	1	0	0	0	16333	1319	46	2	1609	2	TNPO2	19	12821569	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1332675	12821569	46307414	587	20322											
EMR3	84658	broad.mit.edu	37	chr19	14736376	14736376	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactcagattttgattttacGatctctctaaaccacttttg	5	9	3	2	rs147270469	by1000genomes	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:14736376G>A	uc002mzi.3	-	15	1996	c.1848C>T	c.(1846-1848)ATC>ATT	p.I616I	EMR3_uc010dzp.2_Silent_p.I564I|EMR3_uc010xnv.1_Silent_p.I490I	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	egf-like module-containing mucin-like receptor	616	Cytoplasmic (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(5)|skin(1)	6						TTGATTTTACGATCTCTCTAA	0.403													A	14736376	G	A	14736376	2	1	21	1	0	0	0	0	0	0	0	1	5106	1048	37	1		1	EMR3	19	14736376	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1914807	14736376	44392607	588	20323											
OR10H1	26539	broad.mit.edu	37	chr19	15917904	15917904	+	Frame_Shift_Del	DEL	T	T	-													atttctcctacatcattacaTttttttctgggtagagttta							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:15917903_15917903AT>A	uc002nbq.2	-	0	1034	c.945_945AT>T	c.(943-945)aatfs	p.N315fs		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						ACATCATTACATTTTTTTCTG	0.438													-	15917904	T	-	15917904	7	5	21	1	0	1	0	1	0	0	0	0	10905	1493	52	0	16	0	OR10H1	19	15917904	Frame_Shift_Del	DEL	T	TCGA-BR-4363-01A-01D-1158-08	1181528	15917904	43211079	589	20324											
CPAMD8	27151	broad.mit.edu	37	chr19	17015120	17015121	+	Missense_Mutation	DNP	CA	CA	GC													gcggcagccacgtcacccagCagagtgtaggtcagaagggc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:17015120_17015121CA>GC	uc002nfb.2	-	32	4339_4340	c.4307_4308TG>GC	c.(4306-4308)CTG>CGC	p.L1436R	CPAMD8_uc002nfd.1_5'Flank	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1389						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						CGTCACCCAGCAGAGTGTAGGT	0.629													GC	17015121	CA	GC	17015120	3	3	21	1	0	0	0	0	1	0	0	0	3795	697	25	5	1534	5	CPAMD8	19	17015120	Missense_Mutation	DNP	CA	TCGA-BR-4363-01A-01D-1158-08	1097216	17015120	42113863	590	20325											
NCAN	1463	broad.mit.edu	37	chr19	19338902	19338902	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctacagatgaaggacccActgtgaatcccatggattcc	9	11	0	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:19338902A>G	uc002nlz.2	+	8	2572	c.2473A>G	c.(2473-2475)ACT>GCT	p.T825A	NCAN_uc010ecc.1_Missense_Mutation_p.T389A	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	825					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			TGAAGGACCCACTGTGAATCC	0.557													G	19338902	A	G	19338902	3	3	21	1	0	0	0	0	1	0	0	0	10204	159	6	3	2499	3	NCAN	19	19338902	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	2323782	19338902	39790081	591	20326											
WTIP	126374	broad.mit.edu	37	chr19	34991049	34991049	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctaggactgcgggctgcagCtgagcggggaggagggacgc	20	10	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:34991049C>T	uc002nvm.2	+	8	1168	c.1168C>T	c.(1168-1170)CTG>TTG	p.L390L		NM_001080436	NP_001073905			Wilms tumor 1 interacting protein												0	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CGGGCTGCAGCTGAGCGGGGA	0.682													T	34991049	C	T	34991049	2	4	21	1	0	0	0	0	0	0	0	1	17407	796	28	2		2	WTIP	19	34991049	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	15652147	34991049	24137934	592	20327											
MAG	4099	broad.mit.edu	37	chr19	35793406	35793406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccgtagagggggagacGgtctctatcttgtgctccac	15	10	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:35793406G>A	uc002nyy.1	+	7	1175	c.1026G>A	c.(1024-1026)ACG>ACA	p.T342T	MAG_uc002nyx.1_Silent_p.T342T|MAG_uc010eds.1_Silent_p.T317T|MAG_uc002nyz.1_Silent_p.T342T	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	342	Ig-like C2-type 3.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGGGGGAGACGGTCTCTATCT	0.577													A	35793406	G	A	35793406	2	1	21	1	0	0	0	0	0	0	0	1	9162	1103	39	1		1	MAG	19	35793406	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	802357	35793406	23335577	593	20328											
TMEM147	10430	broad.mit.edu	37	chr19	36038232	36038232	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acattttcctgcaggaccttCgtccacctctgctcgctggg	9	15	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:36038232C>T	uc002oaj.1	+	7	655	c.558C>T	c.(556-558)TTC>TTT	p.F186F	uc010eec.1_5'Flank|uc002oag.2_5'Flank|TMEM147_uc002oai.1_Silent_p.F137F|TMEM147_uc002oak.1_Silent_p.F141F	NM_032635	NP_116024	Q9BVK8	TM147_HUMAN	transmembrane protein 147	186	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCAGGACCTTCGTCCACCTCT	0.572													T	36038232	C	T	36038232	2	4	21	1	0	0	0	0	0	0	0	1	16058	883	31	1		1	TMEM147	19	36038232	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	244826	36038232	23090751	594	20329											
LRFN3	79414	broad.mit.edu	37	chr19	36431600	36431600	+	Frame_Shift_Del	DEL	C	C	-													ccaaggtggccgacactgggCcccctaccgaccgtggcgtc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:36431599_36431599GC>G	uc002oco.3	+	1	1724	c.1272_1272GC>G	c.(1270-1272)gggfs	p.G424fs		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA.	424					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCGACACTGGGCCCCCTACCG	0.677													-	36431600	C	-	36431600	7	5	21	1	0	1	0	1	0	0	0	0	8939	739	26	0	1275	0	LRFN3	19	36431600	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	393368	36431600	22697383	595	20330											
WDR62	284403	broad.mit.edu	37	chr19	36558338	36558338	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcttggaagtctccactgAgacaaaggtgagtttctgtc	11	8	3	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:36558338A>G	uc002odc.2	+	6	783	c.692A>G	c.(691-693)GAG>GGG	p.E231G	WDR62_uc002odd.2_Missense_Mutation_p.E231G|WDR62_uc002odb.2_Missense_Mutation_p.E231G	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	231	WD 3.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTCTCCACTGAGACAAAGGTG	0.532													G	36558338	A	G	36558338	3	3	21	1	0	0	0	0	1	0	0	0	17310	304	11	3	714	3	WDR62	19	36558338	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	126738	36558338	22570645	596	20331											
WDR62	284403	broad.mit.edu	37	chr19	36595830	36595830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacccccgtccccacCgacgctgtaccccctggcca	8	23	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:36595830C>T	uc002odc.2	+	32	4548	c.4457C>T	c.(4456-4458)CCG>CTG	p.P1486L	WDR62_uc002odd.2_Missense_Mutation_p.P1491L	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1486					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCGTCCCCACCGACGCTGTAC	0.687													T	36595830	C	T	36595830	3	4	21	1	0	0	0	0	1	0	0	0	17310	652	23	1	4598	1	WDR62	19	36595830	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	37492	36595830	22533153	597	20332											
ZNF571	51276	broad.mit.edu	37	chr19	38055639	38055639	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccacgactaaaggccctcCcacattccttacattcatag	5	15	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:38055639C>A	uc002ogt.2	-	4	1792	c.1691G>T	c.(1690-1692)GGG>GTG	p.G564V	uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Missense_Mutation_p.G564V	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	564	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAGGCCCTCCCACATTCCTT	0.438													A	38055639	C	A	38055639	3	1	21	1	0	0	0	0	1	0	0	0	18000	623	22	5	142	5	ZNF571	19	38055639	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1459809	38055639	21073344	598	20333											
RYR1	6261	broad.mit.edu	37	chr19	38990408	38990408	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaggccatccgcatctcCgaggaccctgcgagggatgg	15	12	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:38990408C>T	uc002oit.2	+	44	7291	c.7161C>T	c.(7159-7161)TCC>TCT	p.S2387S	RYR1_uc002oiu.2_Silent_p.S2387S|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2387	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCGCATCTCCGAGGACCCTG	0.706													T	38990408	C	T	38990408	2	4	21	1	0	0	0	0	0	0	0	1	13768	639	23	1		1	RYR1	19	38990408	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	934769	38990408	20138575	599	20334											
SARS2	54938	broad.mit.edu	37	chr19	39410406	39410406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatcttggcccatacccggCggagaagcttgttgaatgtg	12	10	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:39410406C>T	uc002oka.2	-	7	915	c.755G>A	c.(754-756)CGC>CAC	p.R252H	SARS2_uc002ojz.2_Missense_Mutation_p.R62H|SARS2_uc010xup.1_Missense_Mutation_p.R254H|SARS2_uc002okb.2_Missense_Mutation_p.R252H|SARS2_uc010xuq.1_Missense_Mutation_p.R252H|SARS2_uc010xur.1_RNA	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2 isoform b precursor	252					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CCATACCCGGCGGAGAAGCTT	0.602													T	39410406	C	T	39410406	3	4	21	1	0	0	0	0	1	0	0	0	13845	768	27	1	841	1	SARS2	19	39410406	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	419998	39410406	19718577	600	20335											
NCCRP1	342897	broad.mit.edu	37	chr19	39691287	39691287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccgccattatggtcccgGtgtgcgctttatccacttcc	8	14	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:39691287G>A	uc002okq.1	+	6	738	c.719G>A	c.(718-720)GGT>GAT	p.G240D		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1	240	FBA.				protein catabolic process					ovary(1)	1						TATGGTCCCGGTGTGCGCTTT	0.622													A	39691287	G	A	39691287	3	1	21	1	0	0	0	0	1	0	0	0	10213	1261	44	4	741	4	NCCRP1	19	39691287	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	280881	39691287	19437696	601	20336											
IL28B	282617	broad.mit.edu	37	chr19	39734754	39734754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctccagaaccttcagcGtcagggccagctcagcctcc	10	17	3	1	rs145428712	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:39734754G>A	uc010xut.1	-	3	306	c.302C>T	c.(301-303)ACG>ATG	p.T101M	IL28B_uc010xuu.1_Missense_Mutation_p.T101M	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	interleukin 28B	101					response to virus	extracellular space	cytokine activity				0	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AACCTTCAGCGTCAGGGCCAG	0.483													A	39734754	G	A	39734754	3	1	21	1	0	0	0	0	1	0	0	0	7683	1145	40	1	299	1	IL28B	19	39734754	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	43467	39734754	19394229	602	20337											
FCGBP	8857	broad.mit.edu	37	chr19	40357606	40357607	+	Frame_Shift_Del	DEL	AC	AC	-													ggttggcacccacagacaggAcacagagaccacgggtggcc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:40357605_40357606GAC>G	uc002omp.4	-	33	15715_15716	c.15707_15708GTC>C	c.(15706-15708)gtcfs	p.V5236fs		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5236	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCACAGACAGGACACAGAGACC	0.629													-	40357607	AC	-	40357606	7	5	21	1	0	1	0	1	0	0	0	0	5778	275	10	0	522	0	FCGBP	19	40357606	Frame_Shift_Del	DEL	AC	TCGA-BR-4363-01A-01D-1158-08	622852	40357606	18771377	603	20338											
C19orf47	126526	broad.mit.edu	37	chr19	40842077	40842077	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcacccaccacggtcacGcccagctcattcattatctc	5	17	5	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:40842077G>A	uc002oni.3	-	4	274	c.273C>T	c.(271-273)GGC>GGT	p.G91G	C19orf47_uc002ong.2_5'UTR|C19orf47_uc002onh.2_Silent_p.G24G	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	hypothetical protein LOC126526	91										ovary(1)|skin(1)	2			Lung(22;0.000636)			CCACGGTCACGCCCAGCTCAT	0.577													A	40842077	G	A	40842077	2	1	21	1	0	0	0	0	0	0	0	1	1930	1074	38	1		1	C19orf47	19	40842077	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	484471	40842077	18286906	604	20339											
SPTBN4	57731	broad.mit.edu	37	chr19	40996063	40996063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttctgaaggagcagcgcGtgcacctggagaacgtgggt	16	8	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:40996063G>A	uc002ony.2	+	4	489	c.403G>A	c.(403-405)GTG>ATG	p.V135M	SPTBN4_uc002onx.2_Missense_Mutation_p.V135M|SPTBN4_uc002onz.2_Missense_Mutation_p.V135M	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	135	CH 1.|Actin-binding.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAGCAGCGCGTGCACCTGGA	0.647													A	40996063	G	A	40996063	3	1	21	1	0	0	0	0	1	0	0	0	15120	1145	40	1	413	1	SPTBN4	19	40996063	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	153986	40996063	18132920	605	20340											
CIC	23152	broad.mit.edu	37	chr19	42795129	42795129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggacaagaagtcggcagcaGccacctcaccagccccacac	9	18	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:42795129G>A	uc002otf.1	+	10	2249	c.2209G>A	c.(2209-2211)GCC>ACC	p.A737T		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	737	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.A737A(1)		ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				GTCGGCAGCAGCCACCTCACC	0.647			T	DUX4	soft tissue sarcoma								A	42795129	G	A	42795129	3	1	21	1	0	0	0	0	1	0	0	0	3424	971	34	2	2247	2	CIC	19	42795129	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1799066	42795129	16333854	606	20341											
PHLDB3	653583	broad.mit.edu	37	chr19	44005952	44005954	+	In_Frame_Del	DEL	CTC	CTC	-													tccagcagctcccgcagctgCtcctcctcccggcgagcggc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:44005952_44005954delCTC	uc002own.3	-	4	725_727	c.466_468delGAG	c.(466-468)GAGdel	p.E156del	PHLDB3_uc002owo.2_In_Frame_Del_p.E156del	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B,	156	Potential.										0		Prostate(69;0.0153)				CCCGCAGCTGCTCCTCCTCCCGG	0.704													-	44005954	CTC	-	44005952	7	5	21	1	0	1	0	1	0	0	0	0	11853	796	28	0	1506	0	PHLDB3	19	44005952	In_Frame_Del	DEL	CTC	TCGA-BR-4363-01A-01D-1158-08	1210823	44005952	15123031	607	20342											
ZNF285	26974	broad.mit.edu	37	chr19	44892073	44892073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctgaagagaaatgcctgCccactcttcactgagggaaa	9	10	3	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:44892073C>T	uc002ozd.3	-	4	421	c.334G>A	c.(334-336)GCA>ACA	p.A112T	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.A119T	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4						GAAATGCCTGCCCACTCTTCA	0.398													T	44892073	C	T	44892073	3	4	21	1	0	0	0	0	1	0	0	0	17819	739	26	2	1442	2	ZNF285	19	44892073	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	886121	44892073	14236910	608	20343											
IGFL3	388555	broad.mit.edu	37	chr19	46627291	46627291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcaggtggagccacagcGgcgggtctcctttaaggata	16	9	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:46627291G>A	uc002pea.1	-	3	227	c.202C>T	c.(202-204)CGC>TGC	p.R68C		NM_207393	NP_997276	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3 precursor	68						extracellular region	protein binding				0		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		GAGCCACAGCGGCGGGTCTCC	0.557													A	46627291	G	A	46627291	3	1	21	1	0	0	0	0	1	0	0	0	7588	1116	39	1	183	1	IGFL3	19	46627291	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1735218	46627291	12501692	609	20344											
ZC3H4	23211	broad.mit.edu	37	chr19	47570582	47570582	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagggggatcaggtcctcGggattccagagcacggtgcg	18	9	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:47570582G>A	uc002pga.3	-	15	2981	c.2943C>T	c.(2941-2943)CCC>CCT	p.P981P	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	981							nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCAGGTCCTCGGGATTCCAGA	0.682													A	47570582	G	A	47570582	2	1	21	1	0	0	0	0	0	0	0	1	17567	1103	39	1		1	ZC3H4	19	47570582	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	943291	47570582	11558401	610	20345											
TRPM4	54795	broad.mit.edu	37	chr19	49685882	49685882	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacgccctgctgaatgaccgGcctgagttcgtgcgcttgct	13	13	0	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:49685882G>T	uc002pmw.2	+	11	1383	c.1311G>T	c.(1309-1311)CGG>CGT	p.R437R	TRPM4_uc010emu.2_Silent_p.R437R|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Silent_p.R263R|TRPM4_uc010emv.2_Silent_p.R322R|TRPM4_uc010yal.1_Silent_p.R83R|TRPM4_uc002pmy.2_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	437	Cytoplasmic (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TGAATGACCGGCCTGAGTTCG	0.597													T	49685882	G	T	49685882	2	4	21	1	0	0	0	0	0	0	0	1	16585	1190	42	5		5	TRPM4	19	49685882	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	2115300	49685882	9443101	611	20346											
SLC6A16	28968	broad.mit.edu	37	chr19	49794007	49794007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggtggcccaacaggatcGtcaggtctgcaaggaacctg	15	10	2	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:49794007G>A	uc002pmz.2	-	11	2030	c.1796C>T	c.(1795-1797)ACG>ATG	p.T599M	SLC6A16_uc002pna.2_Missense_Mutation_p.T599M	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	599						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			skin(2)|ovary(1)|kidney(1)	4		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CAACAGGATCGTCAGGTCTGC	0.562													A	49794007	G	A	49794007	3	1	21	1	0	0	0	0	1	0	0	0	14679	1145	40	1	422	1	SLC6A16	19	49794007	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	108125	49794007	9334976	612	20347											
RPS11	6205	broad.mit.edu	37	chr19	50000524	50000526	+	In_Frame_Del	DEL	AGG	AGG	-													cctgctgggagaaactggcaAggagaagctcccgcggtact							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:50000523_50000525AAGG>A	uc002pob.1	+	1	168_170	c.88_90AAGG>A	c.(88-90)aag>A	p.K30del	SNORD35B_uc002poc.3_5'Flank	NM_001015	NP_001006	P62280	RS11_HUMAN	Homo sapiens ribosomal protein S11 (RPS11), mRNA.	30					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		AGAAACTGGCAAGGAGAAGCTCC	0.522													-	50000526	AGG	-	50000524	7	5	21	1	0	1	0	1	0	0	0	0	13621	72	3	0	95	0	RPS11	19	50000524	In_Frame_Del	DEL	AGG	TCGA-BR-4363-01A-01D-1158-08	206517	50000524	9128459	613	20348											
IL4I1	259307	broad.mit.edu	37	chr19	50393802	50393802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagcacaagcccggacaGcgagctcagcagcgcgcgcg	13	16	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:50393802G>A	uc002pqt.1	-	8	907	c.829C>T	c.(829-831)CTG>TTG	p.L277L	IL4I1_uc002pqv.1_Silent_p.L286L|IL4I1_uc010eno.1_Silent_p.L285L|IL4I1_uc002pqw.1_Silent_p.L285L|IL4I1_uc002pqu.1_Silent_p.L299L	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 1 precursor	277						lysosome	L-amino-acid oxidase activity			lung(1)|ovary(1)|prostate(1)	3		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		AGCCCGGACAGCGAGCTCAGC	0.716													A	50393802	G	A	50393802	2	1	21	1	0	0	0	0	0	0	0	1	7697	962	34	2		2	IL4I1	19	50393802	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	393278	50393802	8735181	614	20349											
POLD1	5424	broad.mit.edu	37	chr19	50905061	50905061	+	Frame_Shift_Del	DEL	C	C	-													cgcagcctgtgcctggggggCccccaccatcccgcggctcc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:50905060_50905060GC>G	uc010eny.3	+	2	343	c.342_342GC>G	c.(340-342)gggfs	p.G114fs	POLD1_uc002psb.4_Frame_Shift_Del_p.G114fs|POLD1_uc002psc.4_Frame_Shift_Del_p.G114fs|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	114					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TGCCTGGGGGGCCCCCACCAT	0.662								DNA polymerases (catalytic subunits)					-	50905061	C	-	50905061	7	5	21	1	0	1	0	1	0	0	0	0	12190	739	26	0	353	0	POLD1	19	50905061	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	511259	50905061	8223922	615	20350											
LRRC4B	94030	broad.mit.edu	37	chr19	51021562	51021562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaccactgcccccagggcCgcccccgccgctgccggtgc	11	23	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:51021562C>T	uc002pss.2	-	3	1545	c.1408G>A	c.(1408-1410)GGC>AGC	p.G470S		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	470	Gly-rich.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		cccccagggccgcccccgccg	0.418													T	51021562	C	T	51021562	3	4	21	1	0	0	0	0	1	0	0	0	9007	652	23	1	737	1	LRRC4B	19	51021562	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	116501	51021562	8107421	616	20351											
SHANK1	50944	broad.mit.edu	37	chr19	51219975	51219975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccatcatgctgaagtgggCgtcgtctgggacggacattg	15	9	2	1	rs150390491		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:51219975C>T	uc002psx.1	-	1	221	c.202G>A	c.(202-204)GCC>ACC	p.A68T		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	68					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTGAAGTGGGCGTCGTCTGGG	0.672													T	51219975	C	T	51219975	3	4	21	1	0	0	0	0	1	0	0	0	14264	768	27	1	6375	1	SHANK1	19	51219975	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	198413	51219975	7909008	617	20352											
KLK14	43847	broad.mit.edu	37	chr19	51582715	51582715	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcctcaccgatggggcTggatatagttccccagcctg	13	12	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:51582715T>G	uc002pvs.1	-	5	724	c.505A>C	c.(505-507)AGC>CGC	p.S169R		NM_022046	NP_071329	Q9P0G3	KLK14_HUMAN	kallikrein 14 preproprotein	169	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			skin(1)	1		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CCGATGGGGCTGGATATAGTT	0.398													G	51582715	T	G	51582715	3	3	21	1	0	0	0	0	1	0	0	0	8402	1580	55	5	310	5	KLK14	19	51582715	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	362740	51582715	7546268	618	20353											
CACNG6	59285	broad.mit.edu	37	chr19	54515282	54515282	+	Frame_Shift_Del	DEL	C	C	-													agagagtcagcccggagcctCccccggccccacgcctcacc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:54515281_54515281TC>T	uc002qct.3	+	3	1211	c.621_621TC>T	c.(619-621)cctfs	p.P207fs	CACNG6_uc002qcu.3_Frame_Shift_Del_p.P161fs|CACNG6_uc002qcv.3_Frame_Shift_Del_p.P136fs	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 6 (CACNG6), transcript variant 1, mRNA.	207						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GCCCGGAGCCTCCCCCGGCCC	0.697													-	54515282	C	-	54515282	7	5	21	1	0	1	0	1	0	0	0	0	2561	855	30	0	636	0	CACNG6	19	54515282	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	2932567	54515282	4613701	619	20354											
LILRB5	10990	broad.mit.edu	37	chr19	54760565	54760565	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggggcccctgacaccAgagggtcacgggcttccccc	12	18	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:54760565A>C	uc002qex.2	-	3	253	c.142T>G	c.(142-144)TGG>GGG	p.W48G	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.W48G|LILRB5_uc002qey.2_Missense_Mutation_p.W48G|LILRB5_uc002qez.2_Missense_Mutation_p.W48G|LILRB5_uc002qfa.1_Missense_Mutation_p.W38G|LILRB5_uc010yes.1_RNA	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	48	Ig-like C2-type 1.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCTGACACCAGAGGGTCACG	0.627													C	54760565	A	C	54760565	3	2	21	1	0	0	0	0	1	0	0	0	8794	188	7	5	1677	5	LILRB5	19	54760565	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	245283	54760565	4368418	620	20355											
ZNF582	147948	broad.mit.edu	37	chr19	56896019	56896019	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcacaatctttacatTcatacggtttctcaccagta	3	13	4	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:56896019T>G	uc002qmz.1	-	5	926	c.767A>C	c.(766-768)GAA>GCA	p.E256A	ZNF582_uc002qmy.2_Missense_Mutation_p.E287A	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	zinc finger protein 582	256	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|large_intestine(1)	4		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		ATCTTTACATTCATACGGTTT	0.408													G	56896019	T	G	56896019	3	3	21	1	0	0	0	0	1	0	0	0	18011	1783	62	5	790	5	ZNF582	19	56896019	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	2135454	56896019	2232964	621	20356											
ZBTB45	84878	broad.mit.edu	37	chr19	59028872	59028872	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcttgtcttggaagaAgggtgagccggccgccagca	15	11	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:59028872A>T	uc002qtd.2	-	2	461	c.169T>A	c.(169-171)TTC>ATC	p.F57I	ZBTB45_uc002qte.2_Missense_Mutation_p.F57I|ZBTB45_uc002qtf.2_Missense_Mutation_p.F57I	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	57	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TCTTGGAAGAAGGGTGAGCCG	0.637											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	59028872	A	T	59028872	3	4	21	1	0	0	0	0	1	0	0	0	17543	72	3	5	1374	5	ZBTB45	19	59028872	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	2132853	59028872	100111	622	20357											
CDS2	8760	broad.mit.edu	37	chr20	5165505	5165505	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactttggttcatttctaggTtcattgtccccatatcttgt	6	9	4	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:5165505T>C	uc002wls.2	+	8	930	c.673T>C	c.(673-675)TTC>CTC	p.F225L	CDS2_uc002wlr.1_Missense_Mutation_p.F147L|CDS2_uc010zqt.1_RNA|CDS2_uc002wlu.2_Missense_Mutation_p.F170L|CDS2_uc010zqu.1_Missense_Mutation_p.F105L|CDS2_uc002wlv.2_Missense_Mutation_p.F127L|CDS2_uc010zqv.1_Missense_Mutation_p.F46L	NM_003818	NP_003809	O95674	CDS2_HUMAN	phosphatidate cytidylyltransferase 2	225	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity				0						CATTTCTAGGTTCATTGTCCC	0.403													C	5165505	T	C	5165505	3	2	21	1	0	0	0	0	1	0	0	0	3178	1739	60	3	703	3	CDS2	20	5165505	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08		5165505	57860015	623	20358											
ANKRD5	63926	broad.mit.edu	37	chr20	10033880	10033880	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaactaaaaggcaagacacCtcctatactgaagactgaag	7	9	0	4			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:10033880C>A	uc002wno.2	+	9	2384	c.1991C>A	c.(1990-1992)CCT>CAT	p.P664H	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.P664H|ANKRD5_uc010gbz.2_Missense_Mutation_p.P475H	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	664							calcium ion binding			ovary(1)|breast(1)	2						GGCAAGACACCTCCTATACTG	0.353													A	10033880	C	A	10033880	3	1	21	1	0	0	0	0	1	0	0	0	676	681	24	5	2017	5	ANKRD5	20	10033880	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	4868375	10033880	52991640	624	20359											
ANKRD5	63926	broad.mit.edu	37	chr20	10036224	10036224	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgagagaggtttacacatgaGgtggacttcgacgattttat	12	6	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:10036224G>T	uc002wno.2	+	11	2640	c.2247G>T	c.(2245-2247)GAG>GAT	p.E749D	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.E749D|ANKRD5_uc010gbz.2_Missense_Mutation_p.E560D	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	749							calcium ion binding			ovary(1)|breast(1)	2						TTACACATGAGGTGGACTTCG	0.448													T	10036224	G	T	10036224	3	4	21	1	0	0	0	0	1	0	0	0	676	991	35	5	2281	5	ANKRD5	20	10036224	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	2344	10036224	52989296	625	20360											
MKKS	8195	broad.mit.edu	37	chr20	10394237	10394237	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctatttattgcattatcacGttttaacattaaaaattatt	2	5	2	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:10394237G>A	uc002wnt.1	-	3	813	c.-74C>T	c.(-76--72)AACGT>AATGT		MKKS_uc002wnu.1_Translation_Start_Site|MKKS_uc010zrd.1_Intron	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome protein						brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding				0						GCATTATCACGTTTTAACATT	0.299									Bardet-Biedl_syndrome				A	10394237	G	A	10394237	1	1	21	1	0	0	0	0	0	0	0	0	9600	1160	40	1		1	MKKS	20	10394237	Translation_Start_Site	SNP	G	TCGA-BR-4363-01A-01D-1158-08	358013	10394237	52631283	626	20361											
C20orf134	170487	broad.mit.edu	37	chr20	32255583	32255583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtccctggacttcgagggcGacctccgcgaccccgcccgc	12	19	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:32255583G>A	uc002wzt.2	+	1	1280	c.280G>A	c.(280-282)GAC>AAC	p.D94N	NECAB3_uc002wzm.3_Intron|NECAB3_uc002wzn.3_Intron|NECAB3_uc002wzo.3_Intron|NECAB3_uc002wzp.3_Intron|NECAB3_uc002wzq.3_Intron|NECAB3_uc002wzr.3_Intron|NECAB3_uc010geo.2_Intron	NM_001024675	NP_001019846	Q5JWF8	CT134_HUMAN	hypothetical protein LOC170487	94										pancreas(1)	1						CTTCGAGGGCGACCTCCGCGA	0.672													A	32255583	G	A	32255583	3	1	21	1	0	0	0	0	1	0	0	0	2087	1058	37	1	282	1	C20orf134	20	32255583	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	21861346	32255583	30769937	627	20362											
DLGAP4	22839	broad.mit.edu	37	chr20	35060141	35060141	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaaaggcctcggtgacagCcgcccccgccacctctccga	10	18	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:35060141C>T	uc002xff.2	+	3	456	c.21C>T	c.(19-21)AGC>AGT	p.S7S	DLGAP4_uc010zvp.1_Silent_p.S7S	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	7					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TCGGTGACAGCCGCCCCCGCC	0.706													T	35060141	C	T	35060141	2	4	21	1	0	0	0	0	0	0	0	1	4562	738	26	2		2	DLGAP4	20	35060141	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	2804558	35060141	27965379	628	20363											
NCOA5	57727	broad.mit.edu	37	chr20	44695696	44695699	+	Splice_Site	DEL	TGTC	TGTC	-													atatctaagggttcttacttTgtctgtttgttgaccacaat							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:44695695_44695698TTGTC>T	uc002xrd.3	-	4	1157	c.629_splice	c.e4+1	p.K210_splice	NCOA5_uc002xrc.3_Splice_Site_p.K98_splice|NCOA5_uc002xre.3_Splice_Site_p.K210_splice	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GGTTCTTACTTTGTCTGTTTGTTG	0.431													-	44695699	TGTC	-	44695696	8	5	21	1	0	1	0	1	0	0	1	0	10232	1799	63	0	1128	0	NCOA5	20	44695696	Splice_Site	DEL	TGTC	TCGA-BR-4363-01A-01D-1158-08	9635555	44695696	18329824	629	20364											
ZNF334	55713	broad.mit.edu	37	chr20	45130805	45130805	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctctgatgcgcagtaagGgctgactgacagaagaaggt	13	7	1	5			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:45130805G>A	uc002xsc.2	-	5	1357	c.1173C>T	c.(1171-1173)GCC>GCT	p.A391A	ZNF334_uc002xsa.2_Silent_p.A414A|ZNF334_uc002xsb.2_Silent_p.A353A|ZNF334_uc002xsd.2_Silent_p.A353A|ZNF334_uc010ghl.2_Silent_p.A390A	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	391	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				GCGCAGTAAGGGCTGACTGAC	0.418													A	45130805	G	A	45130805	2	1	21	1	0	0	0	0	0	0	0	1	17848	1219	43	4		4	ZNF334	20	45130805	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	435109	45130805	17894715	630	20365											
ZNFX1	57169	broad.mit.edu	37	chr20	47865975	47865975	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctccgcactagcgagaggaGgatgatgtcattctcttccc	11	12	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:47865975G>T	uc002xui.2	-	14	3833	c.3586C>A	c.(3586-3588)CTC>ATC	p.L1196I		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1196							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGCGAGAGGAGGATGATGTCA	0.532													T	47865975	G	T	47865975	3	4	21	1	0	0	0	0	1	0	0	0	18202	1000	35	5	2174	5	ZNFX1	20	47865975	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	2735170	47865975	15159545	631	20366											
PTGIS	5740	broad.mit.edu	37	chr20	48129730	48129730	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctgccatgggcatggccaGgtccaccacaacctcgcggg	13	15	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:48129730G>T	uc002xut.2	-	8	1147	c.1093C>A	c.(1093-1095)CTG>ATG	p.L365M	PTGIS_uc010zyi.1_Missense_Mutation_p.L226M	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	prostaglandin I2 synthase	365					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GGCATGGCCAGGTCCACCACA	0.612													T	48129730	G	T	48129730	3	4	21	1	0	0	0	0	1	0	0	0	12752	991	35	5	421	5	PTGIS	20	48129730	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	263755	48129730	14895790	632	20367											
NFATC2	4773	broad.mit.edu	37	chr20	50139969	50139969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgaggggctccgggagcGctggggtgaggctccgggcg	23	11	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:50139969G>A	uc002xwd.2	-	2	1031	c.811C>T	c.(811-813)CGC>TGC	p.R271C	NFATC2_uc002xwc.2_Missense_Mutation_p.R271C|NFATC2_uc010zyv.1_Missense_Mutation_p.R52C|NFATC2_uc010zyw.1_Missense_Mutation_p.R52C|NFATC2_uc010zyx.1_Missense_Mutation_p.R251C|NFATC2_uc010zyy.1_Missense_Mutation_p.R52C|NFATC2_uc010zyz.1_Missense_Mutation_p.R52C|NFATC2_uc002xwe.2_Missense_Mutation_p.R251C	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	271	3 X approximate SP repeats.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					CTCCGGGAGCGCTGGGGTGAG	0.731													A	50139969	G	A	50139969	3	1	21	1	0	0	0	0	1	0	0	0	10362	1087	38	1	2050	1	NFATC2	20	50139969	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	2010239	50139969	12885551	633	20368											
C20orf177	63939	broad.mit.edu	37	chr20	58519082	58519082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaaatcccaagtaccccaCgcttcttcccagccgagaag	7	15	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:58519082C>T	uc002yba.2	+	5	499	c.84C>T	c.(82-84)CAC>CAT	p.H28H	C20orf177_uc010zzx.1_Intron|C20orf177_uc002ybc.2_Silent_p.H28H	NM_022106	NP_071389	Q9NTX9	CT177_HUMAN	hypothetical protein LOC63939	28										ovary(2)|breast(1)	3	all_lung(29;0.00693)		BRCA - Breast invasive adenocarcinoma(7;1.22e-08)			AAGTACCCCACGCTTCTTCCC	0.448													T	58519082	C	T	58519082	2	4	21	1	0	0	0	0	0	0	0	1	2096	535	19	1		1	C20orf177	20	58519082	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	8379113	58519082	4506438	634	20369											
DIDO1	11083	broad.mit.edu	37	chr20	61541269	61541269	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgcagtttgggcagaTatagtcttccccattccttt	9	9	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:61541269T>C	uc002ydr.1	-	4	1207	c.943A>G	c.(943-945)ATC>GTC	p.I315V	DIDO1_uc002yds.1_Missense_Mutation_p.I315V|DIDO1_uc002ydt.1_Missense_Mutation_p.I315V|DIDO1_uc002ydu.1_Missense_Mutation_p.I315V|DIDO1_uc002ydv.1_Missense_Mutation_p.I315V|DIDO1_uc002ydw.1_Missense_Mutation_p.I315V|DIDO1_uc002ydx.1_Missense_Mutation_p.I315V|DIDO1_uc011aao.1_Missense_Mutation_p.I315V	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	315	PHD-type.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					TTTGGGCAGATATAGTCTTCC	0.493													C	61541269	T	C	61541269	3	2	21	1	0	0	0	0	1	0	0	0	4522	1406	49	3	5961	3	DIDO1	20	61541269	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	3022187	61541269	1484251	635	20370											
MYT1	4661	broad.mit.edu	37	chr20	62839241	62839241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcgaagtcaccaccgagcGctcccaggacctgtgtcccc	10	18	1	0	rs139069988		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:62839241G>A	uc002yii.2	+	7	1056	c.692G>A	c.(691-693)CGC>CAC	p.R231H	MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	231	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACCACCGAGCGCTCCCAGGAC	0.557													A	62839241	G	A	62839241	3	1	21	1	0	0	0	0	1	0	0	0	10106	1087	38	1	710	1	MYT1	20	62839241	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1297972	62839241	186279	636	20371											
KRTAP26-1	388818	broad.mit.edu	37	chr21	31691822	31691822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgaggctgctggacacaaCgtgaagactttgaggacgat	13	8	1	4			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr21:31691822C>T	uc002ynw.2	-	1	786	c.532G>A	c.(532-534)GTT>ATT	p.V178I		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	178						intermediate filament				ovary(1)	1						CTGGACACAACGTGAAGACTT	0.557													T	31691822	C	T	31691822	3	4	21	1	0	0	0	0	1	0	0	0	8543	536	19	1	104	1	KRTAP26-1	21	31691822	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08		31691822	16438073	637	20372											
TIAM1	7074	broad.mit.edu	37	chr21	32617973	32617973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgtagaaaaatagcgtgCatcctgaggaaacagaacag	10	8	1	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr21:32617973C>T	uc002yow.1	-	7	1887	c.1415G>A	c.(1414-1416)TGC>TAC	p.C472Y	TIAM1_uc011adk.1_Missense_Mutation_p.C472Y|TIAM1_uc011adl.1_Missense_Mutation_p.C472Y|TIAM1_uc002yox.1_Missense_Mutation_p.C80Y	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	472	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						AAATAGCGTGCATCCTGAGGA	0.527													T	32617973	C	T	32617973	3	4	21	1	0	0	0	0	1	0	0	0	15887	710	25	2	3452	2	TIAM1	21	32617973	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	926151	32617973	15511922	638	20373											
RIPK4	54101	broad.mit.edu	37	chr21	43162041	43162041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgcagcaggctggcacCgctgtccagtgccaggtcca	14	14	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr21:43162041C>T	uc002yzn.1	-	8	1360	c.1312G>A	c.(1312-1314)GGT>AGT	p.G438S		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	438						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						AGGCTGGCACCGCTGTCCAGT	0.627													T	43162041	C	T	43162041	3	4	21	1	0	0	0	0	1	0	0	0	13383	652	23	1	1046	1	RIPK4	21	43162041	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	10544068	43162041	4967854	639	20374											
PKNOX1	5316	broad.mit.edu	37	chr21	44437072	44437072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagggaattgtggtgccgGcgtccgcgctgcagcaggga	17	11	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr21:44437072G>A	uc002zcq.1	+	6	765	c.577G>A	c.(577-579)GCG>ACG	p.A193T	PKNOX1_uc002zcp.1_Missense_Mutation_p.A193T|PKNOX1_uc011aex.1_Missense_Mutation_p.A76T|PKNOX1_uc002zcr.2_Missense_Mutation_p.A193T	NM_004571	NP_004562	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	193							sequence-specific DNA binding			large_intestine(2)	2						TGTGGTGCCGGCGTCCGCGCT	0.512													A	44437072	G	A	44437072	3	1	21	1	0	0	0	0	1	0	0	0	11982	1203	42	2	595	2	PKNOX1	21	44437072	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1275031	44437072	3692823	640	20375											
CECR2	27443	broad.mit.edu	37	chr22	17983977	17983977	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcgcgagaggacctcccttCgagaacggcagctctacaag	11	13	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr22:17983977C>T	uc010gqw.1	+	6	799	c.673C>T	c.(673-675)CGA>TGA	p.R225*	CECR2_uc010gqv.1_Nonsense_Mutation_p.R104*|CECR2_uc002zml.2_Nonsense_Mutation_p.R104*|CECR2_uc002zmm.1_Nonsense_Mutation_p.R104*	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	267					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		GACCTCCCTTCGAGAACGGCA	0.582													T	17983977	C	T	17983977	4	4	21	1	0	0	0	0	0	1	0	0	3206	876	31	1	697	1	CECR2	22	17983977	Nonsense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08		17983977	33320589	641	20376											
CECR2	27443	broad.mit.edu	37	chr22	18021539	18021539	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgcagaggccagcagtAccaggaacatttggccctct	12	12	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr22:18021539A>G	uc010gqw.1	+	14	1956	c.1830A>G	c.(1828-1830)GTA>GTG	p.V610V	CECR2_uc010gqv.1_Silent_p.V469V|CECR2_uc002zml.2_Silent_p.V469V	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	652					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		GGCCAGCAGTACCAGGAACAT	0.542													G	18021539	A	G	18021539	2	3	21	1	0	0	0	0	0	0	0	1	3206	378	14	3		3	CECR2	22	18021539	Silent	SNP	A	TCGA-BR-4363-01A-01D-1158-08	37562	18021539	33283027	642	20377											
CECR2	27443	broad.mit.edu	37	chr22	18022047	18022047	+	Frame_Shift_Del	DEL	G	G	-													gattcattcctccccggcatGggggggctccagcccggcca					rs41277560	by1000genomes	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr22:18022046_18022046TG>T	uc010gqw.1	+	14	2142	c.2142_2142TG>T	c.(2140-2142)catfs	p.H714fs	CECR2_uc010gqv.1_Frame_Shift_Del_p.H575fs|CECR2_uc002zml.2_Frame_Shift_Del_p.H575fs	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	758					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CTCCCCGGCATGGGGGGGCTC	0.547													-	18022047	G	-	18022047	7	5	21	1	0	1	0	1	0	0	0	0	3206	1348	47	0	2209	0	CECR2	22	18022047	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	508	18022047	33282519	643	20378											
CYTSA	23384	broad.mit.edu	37	chr22	24717989	24717989	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatggacaatttagacagTgagtgcagtgaggtctacca	11	8	1	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr22:24717989T>C	uc002zzw.2	+	5	1348	c.1041T>C	c.(1039-1041)AGT>AGC	p.S347S	CYTSA_uc002zzv.3_Silent_p.S347S|CYTSA_uc011ajq.1_Silent_p.S347S	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	347					cell cycle|cell division						0						ATTTAGACAGTGAGTGCAGTG	0.542													C	24717989	T	C	24717989	2	2	21	1	0	0	0	0	0	0	0	1	4209	1693	59	3		3	CYTSA	22	24717989	Silent	SNP	T	TCGA-BR-4363-01A-01D-1158-08	6695942	24717989	26586577	644	20379											
PIK3IP1	113791	broad.mit.edu	37	chr22	31679239	31679239	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcatctccctctcacatActttctgatcatgctgttct	5	14	5	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr22:31679239A>G	uc003akm.2	-	6	813	c.623T>C	c.(622-624)GTA>GCA	p.V208A	PIK3IP1_uc003akl.2_RNA|PIK3IP1_uc011alo.1_3'UTR|PIK3IP1_uc003akn.2_Missense_Mutation_p.V188A	NM_052880	NP_443112	Q96FE7	P3IP1_HUMAN	HGFL protein isoform 1	208	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1						CCTCTCACATACTTTCTGATC	0.483													G	31679239	A	G	31679239	3	3	21	1	0	0	0	0	1	0	0	0	11917	391	14	3	172	3	PIK3IP1	22	31679239	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	6961250	31679239	19625327	645	20380											
ANKRD54	129138	broad.mit.edu	37	chr22	38228002	38228004	+	In_Frame_Del	DEL	AGG	AGG	-													tgagggaggtgaagctggccAggaggtcagtcacttcatcc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr22:38228001_38228003CAGG>C	uc003auc.3	-	7	958_960	c.850_852CCTG>G	c.(850-852)ctg>G	p.L284del	ANKRD54_uc003aud.3_In_Frame_Del_p.L161del	NM_138797	NP_620152	Q6NXT1	ANR54_HUMAN	Homo sapiens ankyrin repeat domain 54 (ANKRD54), transcript variant 1, mRNA.	284										lung(1)	1	Melanoma(58;0.045)					TGAAGCTGGCCAGGAGGTCAGTC	0.616													-	38228004	AGG	-	38228002	7	5	21	1	0	1	0	1	0	0	0	0	680	188	7	0	55	0	ANKRD54	22	38228002	In_Frame_Del	DEL	AGG	TCGA-BR-4363-01A-01D-1158-08	6548763	38228002	13076564	646	20381											
DDX17	10521	broad.mit.edu	37	chr22	38897211	38897212	+	Frame_Shift_Ins	INS	-	-	TT													gagctcactcaaatcccactINStttttttacgcaaacgctcc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr22:38897210_38897211C>CTT	uc003avy.4	-	1	465_466	c.362_363G>AAG	c.(361-363)aagfs	p.K121fs	DDX17_uc003avx.4_Frame_Shift_Ins_p.K121fs|DDX17_uc011anu.2_Frame_Shift_Ins_p.K34fs	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	42					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TCAAATCCCACTTTTTTTTACG	0.421													TT	38897212	-	TT	38897211	7	5	21	1	0	1	1	0	0	0	0	0	4344	1609	56	0	1881	0	DDX17	22	38897211	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	669209	38897211	12407355	647	20382											
L3MBTL2	83746	broad.mit.edu	37	chr22	41620769	41620769	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catcaccccaccttccggaaGatctactgtgatgccgttcc	7	16	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr22:41620769G>T	uc003azo.2	+	10	1269	c.1215G>T	c.(1213-1215)AAG>AAT	p.K405N	L3MBTL2_uc010gyi.1_Missense_Mutation_p.K314N|L3MBTL2_uc003azn.2_RNA	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2	405	MBT 3.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3						CCTTCCGGAAGATCTACTGTG	0.582													T	41620769	G	T	41620769	3	4	21	1	0	0	0	0	1	0	0	0	8592	933	33	5	1253	5	L3MBTL2	22	41620769	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	2723558	41620769	9683797	648	20383											
ARFGAP3	26286	broad.mit.edu	37	chr22	43227589	43227589	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtggtttccacaggcctTgatgttaaagaagatggttc	11	6	0	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr22:43227589T>C	uc003bdd.2	-	6	751	c.531A>G	c.(529-531)TCA>TCG	p.S177S	ARFGAP3_uc010gzf.2_Silent_p.S133S|ARFGAP3_uc011apu.1_Silent_p.S105S	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating	177					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(1)	1						CCACAGGCCTTGATGTTAAAG	0.408													C	43227589	T	C	43227589	2	2	21	1	0	0	0	0	0	0	0	1	851	1799	63	3		3	ARFGAP3	22	43227589	Silent	SNP	T	TCGA-BR-4363-01A-01D-1158-08	1606820	43227589	8076977	649	20384											
RIBC2	26150	broad.mit.edu	37	chr22	45818216	45818216	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtttgacgagacagccaaGcacctccagaagctggaaag	11	11	0	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr22:45818216G>A	uc011aqs.1	+	5	797	c.588G>A	c.(586-588)AAG>AAA	p.K196K		NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	128											0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AGACAGCCAAGCACCTCCAGA	0.547													A	45818216	G	A	45818216	2	1	21	1	0	0	0	0	0	0	0	1	13353	962	34	2		2	RIBC2	22	45818216	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	2590627	45818216	5486350	650	20385											
SBF1	6305	broad.mit.edu	37	chr22	50906280	50906280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggcgctcggagttgatgtCggtgaggacagcaacaaaga	16	7	0	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr22:50906280C>T	uc003blh.2	-	3	409	c.214G>A	c.(214-216)GAC>AAC	p.D72N	SBF1_uc011arx.1_5'Flank|SBF1_uc003bli.2_Missense_Mutation_p.D72N	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	72	UDENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GAGTTGATGTCGGTGAGGACA	0.602													T	50906280	C	T	50906280	3	4	21	1	0	0	0	0	1	0	0	0	13858	884	31	1	5623	1	SBF1	22	50906280	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	5088064	50906280	398286	651	20386											
PPP2R3B	28227	broad.mit.edu	37	chrX	302052	302052	+	Frame_Shift_Del	DEL	T	T	-													aggaacccacctggtcggtgTttttttgtcttcctcagaga							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:302051_302051GT>G	uc004cpg.3	-	8	1430	c.1166_1166AC>C	c.(1165-1167)acafs	p.T389fs	PPP2R3B_uc004cpf.3_5'UTR	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA.	389	EF-hand.				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGGTCGGTGTTTTTTTGTC	0.562													-	302052	T	-	302052	7	5	21	1	0	1	0	1	0	0	0	0	12389	1725	60	0	582	0	PPP2R3B	23	302052	Frame_Shift_Del	DEL	T	TCGA-BR-4363-01A-01D-1158-08		302052	154968508	652	20387											
TLR8	51311	broad.mit.edu	37	chrX	12940244	12940244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgactgaaaatgattcaCggtataacaatatgtatgtc	7	6	2	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:12940244C>T	uc004cve.2	+	2	3153	c.3085C>T	c.(3085-3087)CGG>TGG	p.R1029W	TLR8_uc004cvd.2_Missense_Mutation_p.R1047W	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	1029	Cytoplasmic (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						AAATGATTCACGGTATAACAA	0.403													T	12940244	C	T	12940244	3	4	21	1	0	0	0	0	1	0	0	0	15954	527	19	1	3091	1	TLR8	23	12940244	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	12638192	12940244	142330316	653	20388											
CTPS2	56474	broad.mit.edu	37	chrX	16720875	16720875	+	Frame_Shift_Del	DEL	A	A	-													cgtaccgtgttcataaggtgAaaaagtgccagcatcgatgt							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:16720874_16720874GA>G	uc004cxk.3	-	1	896	c.152_152TC>C	c.(151-153)tcafs	p.S51fs	CTPS2_uc004cxl.3_Frame_Shift_Del_p.S51fs|CTPS2_uc004cxm.3_Frame_Shift_Del_p.S51fs	NM_001144002	NP_787055	Q9NRF8	PYRG2_HUMAN	Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA.	51					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TTCATAAGGTGAAAAAGTGCC	0.413													-	16720875	A	-	16720875	7	5	21	1	0	1	0	1	0	0	0	0	4023	246	9	0	1677	0	CTPS2	23	16720875	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	3780631	16720875	138549685	654	20389											
SCML2	10389	broad.mit.edu	37	chrX	18265925	18265926	+	Frame_Shift_Del	DEL	GA	GA	-													ctttgttttggggagcttagGagagagaggaacaacatatg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:18265924_18265925GGA>G	uc004cyl.2	-	11	1691_1692	c.1534_1535TCC>C	c.(1534-1536)cctfs	p.P512fs	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Frame_Shift_Del_p.P512fs|SCML2_uc011miz.1_Frame_Shift_Del_p.P446fs|SCML2_uc010nfc.2_Frame_Shift_Del_p.P248fs	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	512					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GGGGAGCTTAGGAGAGAGAGGA	0.406													-	18265926	GA	-	18265925	7	5	21	1	0	1	0	1	0	0	0	0	13910	1174	41	0	584	0	SCML2	23	18265925	Frame_Shift_Del	DEL	GA	TCGA-BR-4363-01A-01D-1158-08	1545050	18265925	137004635	655	20390											
PHKA2	5256	broad.mit.edu	37	chrX	18969298	18969298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggccccactggtcgtcGcccaccaccgtgccacaggt	12	17	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:18969298G>A	uc004cyv.3	-	4	808	c.378C>T	c.(376-378)GGC>GGT	p.G126G	PHKA2_uc010nfh.1_Intron|PHKA2_uc010nfi.1_Silent_p.G68G	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	126					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					ACTGGTCGTCGCCCACCACCG	0.622													A	18969298	G	A	18969298	2	1	21	1	0	0	0	0	0	0	0	1	11844	1074	38	1		1	PHKA2	23	18969298	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	703373	18969298	136301262	656	20391											
GPR64	10149	broad.mit.edu	37	chrX	19031842	19031842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctggtagtgttgacattcGcaggggcagacacggtggga	17	8	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:19031842G>A	uc004cyx.2	-	16	1225	c.1061C>T	c.(1060-1062)GCG>GTG	p.A354V	GPR64_uc004cyy.2_Missense_Mutation_p.A351V|GPR64_uc004cyz.2_Missense_Mutation_p.A340V|GPR64_uc004czb.2_Missense_Mutation_p.A354V|GPR64_uc004czc.2_Missense_Mutation_p.A338V|GPR64_uc004czd.2_Missense_Mutation_p.A330V|GPR64_uc004cze.2_Missense_Mutation_p.A324V|GPR64_uc004czf.2_Missense_Mutation_p.A316V|GPR64_uc004cza.2_Missense_Mutation_p.A332V|GPR64_uc004cyw.2_Missense_Mutation_p.A338V|GPR64_uc010nfj.2_Missense_Mutation_p.A324V	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	354	Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					GTTGACATTCGCAGGGGCAGA	0.527													A	19031842	G	A	19031842	3	1	21	1	0	0	0	0	1	0	0	0	6705	1087	38	1	2048	1	GPR64	23	19031842	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	62544	19031842	136238718	657	20392											
SAT1	6303	broad.mit.edu	37	chrX	23801523	23801523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgactgcagtgacatactgCggctgatcaaggtagcggag	14	10	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:23801523C>T	uc004dau.2	+	1	249	c.55C>T	c.(55-57)CGG>TGG	p.R19W	SAT1_uc010nfv.2_Missense_Mutation_p.R19W|SAT1_uc004dav.2_RNA	NM_002970	NP_002961	P21673	SAT1_HUMAN	diamine N-acetyltransferase 1	19	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding				0					Spermine(DB00127)	TGACATACTGCGGCTGATCAA	0.597											OREG0019712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	23801523	C	T	23801523	3	4	21	1	0	0	0	0	1	0	0	0	13851	759	27	1	57	1	SAT1	23	23801523	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	4769681	23801523	131469037	658	20393											
FAM48B1	100130302	broad.mit.edu	37	chrX	24382737	24382737	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagggcccagtccagggagcCcaggctttggggagcagttt	17	10	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:24382737C>A	uc011mjx.1	+	1	1860	c.1860C>A	c.(1858-1860)GCC>GCA	p.A620A		NM_001136234	NP_001129706			hypothetical protein LOC100130302											kidney(1)	1						TCCAGGGAGCCCAGGCTTTGG	0.602													A	24382737	C	A	24382737	2	1	21	1	0	0	0	0	0	0	0	1	5573	610	22	5		5	FAM48B1	23	24382737	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	581214	24382737	130887823	659	20394											
FAM47A	158724	broad.mit.edu	37	chrX	34150134	34150134	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccgcttttggggtcagCttggggacctctgagagata	14	10	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:34150134C>G	uc004ddg.2	-	1	295	c.262G>C	c.(262-264)GCT>CCT	p.A88P		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	88										ovary(4)|central_nervous_system(1)	5						TTGGGGTCAGCTTGGGGACCT	0.542													G	34150134	C	G	34150134	3	3	21	1	0	0	0	0	1	0	0	0	5569	797	28	5	2117	5	FAM47A	23	34150134	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	9767397	34150134	121120426	660	20395											
FAM47C	442444	broad.mit.edu	37	chrX	37028447	37028447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactggagtgtcccatctctGcccagagcctcccaagactc	8	16	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:37028447G>A	uc004ddl.1	+	1	1978	c.1964G>A	c.(1963-1965)TGC>TAC	p.C655Y		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	655										ovary(3)	3						TCCCATCTCTGCCCAGAGCCT	0.642													A	37028447	G	A	37028447	3	1	21	1	0	0	0	0	1	0	0	0	5571	1319	46	2	1966	2	FAM47C	23	37028447	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	2878313	37028447	118242113	661	20396											
BCOR	54880	broad.mit.edu	37	chrX	39916480	39916480	+	Frame_Shift_Del	DEL	C	C	-													gtcgcacaatgttgagccagCccctagcacaagcttcatgc							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:39916479_39916479GC>G	uc004den.4	-	10	4816	c.4524_4524GC>C	c.(4522-4524)ggcfs	p.G1508fs	BCOR_uc004dep.4_Frame_Shift_Del_p.G1474fs|BCOR_uc004deo.4_Frame_Shift_Del_p.G1456fs|BCOR_uc010nhb.3_Frame_Shift_Del_p.G216fs|BCOR_uc004dem.4_Frame_Shift_Del_p.G1474fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1508					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGTTGAGCCAGCCCCTAGCAC	0.512			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						-	39916480	C	-	39916480	7	5	21	1	0	1	0	1	0	0	0	0	1386	739	26	0	764	0	BCOR	23	39916480	Frame_Shift_Del	DEL	C	TCGA-BR-4363-01A-01D-1158-08	2888033	39916480	115354080	662	20397											
KDM6A	7403	broad.mit.edu	37	chrX	44935952	44935952	+	Frame_Shift_Del	DEL	A	A	-													ttttttccaggaatctaggtAaaaatggcttatctaacagt							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:44935952delA	uc004dge.3	+	18	3088	c.2713delA	c.(2713-2715)AAAfs	p.K905fs	KDM6A_uc010nhk.2_Frame_Shift_Del_p.K871fs|KDM6A_uc011mkz.1_Frame_Shift_Del_p.K957fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.K860fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.K912fs|KDM6A_uc011mlc.1_Frame_Shift_Del_p.K609fs|KDM6A_uc011mld.1_Frame_Shift_Del_p.K544fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	905					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						GAATCTAGGTAAAAATGGCTT	0.338			D|N|F|S		renal|oesophageal SCC|MM								-	44935952	A	-	44935952	7	5	21	1	0	1	0	1	0	0	0	0	8137	363	13	0	2783	0	KDM6A	23	44935952	Frame_Shift_Del	DEL	A	TCGA-BR-4363-01A-01D-1158-08	5019472	44935952	110334608	663	20398											
SLC9A7	84679	broad.mit.edu	37	chrX	46508232	46508232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcccaggaagatggcaaCctgaccacaaggtagaaggt	12	10	1	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:46508232C>T	uc004dgu.1	-	11	1356	c.1348G>A	c.(1348-1350)GTT>ATT	p.V450I		NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	solute carrier family 9, member 7	450	Helical; (Potential).				regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			ovary(2)	2						AAGATGGCAACCTGACCACAA	0.502													T	46508232	C	T	46508232	3	4	21	1	0	0	0	0	1	0	0	0	14719	521	18	4	857	4	SLC9A7	23	46508232	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1572280	46508232	108762328	664	20399											
PIM2	11040	broad.mit.edu	37	chrX	48776073	48776074	+	Frame_Shift_Ins	INS	-	-	G													gcggcggcgtgggggtcccgINSgggggcgcgggaggcccctg							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:48776072_48776073C>CG	uc004dls.3	-	0	341_342	c.39_40G>CG	c.(37-42)cccgggfs	p.P13fs		NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN	Homo sapiens pim-2 oncogene (PIM2), mRNA.	13					anti-apoptosis|cell proliferation|male meiosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of autophagy|response to virus		ATP binding|protein serine/threonine kinase activity	p.G14W(1)		lung(3)|stomach(1)	4						GTGGGGGTCCCGGGGGGCGCGG	0.698													G	48776074	-	G	48776073	7	5	21	1	0	1	1	0	0	0	0	0	11928	1103	39	0	920	0	PIM2	23	48776073	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	2267841	48776073	106494487	665	20400											
KCND1	3750	broad.mit.edu	37	chrX	48826129	48826129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagtagaaaacgagggctgCggtgctcgtgtgtggattct	15	6	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:48826129C>T	uc004dlx.1	-	1	2123	c.550G>A	c.(550-552)GCA>ACA	p.A184T	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	184	Cytoplasmic (Potential).					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3						ACGAGGGCTGCGGTGCTCGTG	0.662													T	48826129	C	T	48826129	3	4	21	1	0	0	0	0	1	0	0	0	8018	768	27	1	1417	1	KCND1	23	48826129	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	50056	48826129	106444431	666	20401											
CCNB3	85417	broad.mit.edu	37	chrX	50085219	50085219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtcctttgagatgaccCatgagaccctgtacttggca	11	10	0	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:50085219C>T	uc004dox.3	+	9	3833	c.3535C>T	c.(3535-3537)CAT>TAT	p.H1179Y	CCNB3_uc004doy.2_Missense_Mutation_p.H1179Y|CCNB3_uc004doz.2_Missense_Mutation_p.H75Y|CCNB3_uc010njq.2_Missense_Mutation_p.H71Y|CCNB3_uc004dpa.2_Missense_Mutation_p.H18Y	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	1179					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					TGAGATGACCCATGAGACCCT	0.488													T	50085219	C	T	50085219	3	4	21	1	0	0	0	0	1	0	0	0	2914	594	21	4	3561	4	CCNB3	23	50085219	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	1259090	50085219	105185341	667	20402											
SMC1A	8243	broad.mit.edu	37	chrX	53438754	53438754	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccagatccagacggtccTggtcagctttctggtctcga	10	13	3	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:53438754T>C	uc004dsg.2	-	7	1280	c.1211A>G	c.(1210-1212)CAG>CGG	p.Q404R	SMC1A_uc011moe.1_Missense_Mutation_p.Q382R|SMC1A_uc011mof.1_Missense_Mutation_p.Q170R	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	404	Potential.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6						CAGACGGTCCTGGTCAGCTTT	0.463													C	53438754	T	C	53438754	3	2	21	1	0	0	0	0	1	0	0	0	14781	1580	55	3	2566	3	SMC1A	23	53438754	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	3353535	53438754	101831806	668	20403											
HUWE1	10075	broad.mit.edu	37	chrX	53600835	53600835	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtaggcattaaaggttTgctgcccttgcctttctgtt	12	8	1	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:53600835T>C	uc004dsp.2	-	47	6589	c.6187A>G	c.(6187-6189)AAA>GAA	p.K2063E	HUWE1_uc004dsn.2_Missense_Mutation_p.K887E	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2063					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						ATTAAAGGTTTGCTGCCCTTG	0.493													C	53600835	T	C	53600835	3	2	21	1	0	0	0	0	1	0	0	0	7461	1821	63	3	7089	3	HUWE1	23	53600835	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	162081	53600835	101669725	669	20404											
TRO	7216	broad.mit.edu	37	chrX	54956889	54956889	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctttgatggtgggctaggTaccagcgctggcttcggtgg	18	8	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:54956889T>C	uc004dtq.2	+	12	3839	c.3732T>C	c.(3730-3732)GGT>GGC	p.G1244G	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.G775G|TRO_uc004dtw.2_Silent_p.G847G|TRO_uc004dtx.2_Silent_p.G627G	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	1244	44.|62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						GTGGGCTAGGTACCAGCGCTG	0.612													C	54956889	T	C	54956889	2	2	21	1	0	0	0	0	0	0	0	1	16571	1625	57	3		3	TRO	23	54956889	Silent	SNP	T	TCGA-BR-4363-01A-01D-1158-08	1356054	54956889	100313671	670	20405											
OTUD6A	139562	broad.mit.edu	37	chrX	69283028	69283028	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaccacggcatggggaggCcagctggagctgagggccct	17	13	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:69283028C>T	uc004dxu.1	+	1	688	c.654C>T	c.(652-654)GGC>GGT	p.G218G		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	218	OTU.									lung(1)|skin(1)	2						CATGGGGAGGCCAGCTGGAGC	0.617													T	69283028	C	T	69283028	2	4	21	1	0	0	0	0	0	0	0	1	11316	726	26	2		2	OTUD6A	23	69283028	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	14326139	69283028	85987532	671	20406											
PDZD11	51248	broad.mit.edu	37	chrX	69509183	69509183	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtcatcataaggaatccgGctgtccatctcgggcaaggc	11	11	3	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:69509183G>A	uc004dyd.1	-	2	111	c.9C>T	c.(7-9)AGC>AGT	p.S3S	KIF4A_uc004dyg.2_5'Flank|KIF4A_uc010nkw.2_5'Flank|PDZD11_uc004dye.1_Silent_p.S35S|KIF4A_uc004dyf.1_5'Flank	NM_016484	NP_057568	Q5EBL8	PDZ11_HUMAN	PDZ domain containing 11	3						basolateral plasma membrane|cytosol|extracellular region	protein C-terminus binding				0						AAGGAATCCGGCTGTCCATCT	0.512													A	69509183	G	A	69509183	2	1	21	1	0	0	0	0	0	0	0	1	11700	1194	42	2		2	PDZD11	23	69509183	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	226155	69509183	85761377	672	20407											
IL2RG	3561	broad.mit.edu	37	chrX	70327614	70327614	+	Frame_Shift_Del	DEL	G	G	-													caggctttagggtgtaacatGggggggcccagtaggggcta							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:70327614delG	uc004dyw.1	-	8	1096	c.1082delC	c.(1081-1083)CCAfs	p.P361fs	CXorf65_uc011mpo.1_5'Flank|CXorf65_uc011mpp.1_5'Flank|IL2RG_uc004dyv.1_Frame_Shift_Del_p.P90fs|IL2RG_uc004dyx.1_Frame_Shift_Del_p.P171fs	NM_000206	NP_000197	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma precursor	361	Cytoplasmic (Potential).				immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			pancreas(1)	1	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGTGTAACATGGGGGGGCCCA	0.582									Severe_Combined_Immunodeficiency_X-linked				-	70327614	G	-	70327614	7	5	21	1	0	1	0	1	0	0	0	0	7688	1348	47	0	31	0	IL2RG	23	70327614	Frame_Shift_Del	DEL	G	TCGA-BR-4363-01A-01D-1158-08	818431	70327614	84942946	673	20408											
TAF1	6872	broad.mit.edu	37	chrX	70602920	70602920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaactccggcagttccatcGcccacctctgaaaaagtact	6	15	1	1	rs143439292		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:70602920G>A	uc004dzu.3	+	12	1901	c.1850G>A	c.(1849-1851)CGC>CAC	p.R617H	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R638H	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	617					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				CAGTTCCATCGCCCACCTCTG	0.483													A	70602920	G	A	70602920	3	1	21	1	0	0	0	0	1	0	0	0	15510	1087	38	1	1959	1	TAF1	23	70602920	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	275306	70602920	84667640	674	20409											
HDX	139324	broad.mit.edu	37	chrX	83724526	83724526	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caaagaggttcctgttgttgCtgttccagattcagagttct	10	8	2	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:83724526C>G	uc004eek.1	-	3	314	c.205G>C	c.(205-207)GCA>CCA	p.A69P	HDX_uc011mqv.1_Missense_Mutation_p.A69P|HDX_uc004eel.1_Missense_Mutation_p.A11P	NM_144657	NP_653258	Q7Z353	HDX_HUMAN	highly divergent homeobox	69						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)	2						CCTGTTGTTGCTGTTCCAGAT	0.403													G	83724526	C	G	83724526	3	3	21	1	0	0	0	0	1	0	0	0	7026	797	28	5	1899	5	HDX	23	83724526	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	13121606	83724526	71546034	675	20410											
KLHL4	56062	broad.mit.edu	37	chrX	86887291	86887291	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatggccgtaggcttcaatTtggagtcgcagttattgata	12	6	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:86887291T>G	uc004efb.2	+	7	1588	c.1406T>G	c.(1405-1407)TTT>TGT	p.F469C	KLHL4_uc004efa.2_Missense_Mutation_p.F469C	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	469	Kelch 1.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						AGGCTTCAATTTGGAGTCGCA	0.393													G	86887291	T	G	86887291	3	3	21	1	0	0	0	0	1	0	0	0	8391	1841	64	5	1432	5	KLHL4	23	86887291	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	3162765	86887291	68383269	676	20411											
NOX1	27035	broad.mit.edu	37	chrX	100099016	100099016	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcggtgacagcatttgcgCaggctctttgccaaagtccg	11	11	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:100099016C>T	uc004egj.2	-	13	1826	c.1620G>A	c.(1618-1620)CTG>CTA	p.L540L	NOX1_uc004egl.3_Silent_p.L491L|NOX1_uc010nne.2_Silent_p.L503L	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1 isoform long	540	Cytoplasmic (Potential).				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			ovary(1)	1						AGCATTTGCGCAGGCTCTTTG	0.418													T	100099016	C	T	100099016	2	4	21	1	0	0	0	0	0	0	0	1	10556	697	25	2		2	NOX1	23	100099016	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	13211725	100099016	55171544	677	20412											
CAPN6	827	broad.mit.edu	37	chrX	110489890	110489890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttggaccacccttcttaCgcaggtacagagacttcaga	9	12	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:110489890C>T	uc004epc.1	-	13	2009	c.1841G>A	c.(1840-1842)CGT>CAT	p.R614H	CAPN6_uc011msu.1_Missense_Mutation_p.R359H	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	614	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						ACCCTTCTTACGCAGGTACAG	0.507													T	110489890	C	T	110489890	3	4	21	1	0	0	0	0	1	0	0	0	2630	536	19	1	88	1	CAPN6	23	110489890	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	10390874	110489890	44780670	678	20413											
KIAA1210	57481	broad.mit.edu	37	chrX	118222233	118222233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggattcatcaagggctggCaaagaagtttaggaggcaga	14	5	2	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:118222233C>T	uc004era.3	-	11	2960	c.2960G>A	c.(2959-2961)TGC>TAC	p.C987Y		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	987										ovary(4)|skin(1)	5						CAAGGGCTGGCAAAGAAGTTT	0.458													T	118222233	C	T	118222233	3	4	21	1	0	0	0	0	1	0	0	0	8214	710	25	2	2185	2	KIAA1210	23	118222233	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	7732343	118222233	37048327	679	20414											
SEPT6	23157	broad.mit.edu	37	chrX	118767398	118767398	+	Frame_Shift_Del	DEL	T	T	-													atctgtctcatctcctcttcTtttttctggagttcccctag							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:118767397_118767397CT>C	uc004erv.3	-	7	1280	c.1015_1015AG>G	c.(1015-1017)gaafs	p.E339fs	SEPT6_uc010nqk.3_Intron|SEPT6_uc004ers.3_Frame_Shift_Del_p.E339fs|SEPT6_uc004ert.3_Frame_Shift_Del_p.E339fs|SEPT6_uc004eru.3_Frame_Shift_Del_p.E339fs|SEPT6_uc004erw.3_Frame_Shift_Del_p.E281fs|SEPT6_uc011mtv.1_Frame_Shift_Del_p.E281fs|SEPT6_uc011mtw.1_Frame_Shift_Del_p.E369fs	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	Homo sapiens septin 6 (SEPT6), transcript variant II, mRNA.	339					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						ATCTCCTCTTCTTTTTTCTGG	0.438			T	MLL	AML								-	118767398	T	-	118767398	7	5	21	1	0	1	0	1	0	0	0	0	14068	1606	56	0	324	0	SEPT6	23	118767398	Frame_Shift_Del	DEL	T	TCGA-BR-4363-01A-01D-1158-08	545165	118767398	36503162	680	20415											
GRIA3	2892	broad.mit.edu	37	chrX	122319737	122319737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcgctttccgctttgccGtgcagttatacaacaccaac	7	14	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:122319737G>A	uc004etq.3	+	3	456	c.163G>A	c.(163-165)GTG>ATG	p.V55M	GRIA3_uc004etr.3_Missense_Mutation_p.V55M|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.V39M|GRIA3_uc010nqs.1_Missense_Mutation_p.V55M	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	55	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)	CCGCTTTGCCGTGCAGTTATA	0.473													A	122319737	G	A	122319737	3	1	21	1	0	0	0	0	1	0	0	0	6769	1145	40	1	169	1	GRIA3	23	122319737	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	3552339	122319737	32950823	681	20416											
GRIA3	2892	broad.mit.edu	37	chrX	122537342	122537342	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacagtgcatcctcagagaAtcggaccatagtagtgacta	10	9	1	3			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:122537342A>G	uc004etq.3	+	10	1558	c.1265A>G	c.(1264-1266)AAT>AGT	p.N422S	GRIA3_uc004etr.3_Missense_Mutation_p.N422S|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.N406S	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	422	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)	TCCTCAGAGAATCGGACCATA	0.433													G	122537342	A	G	122537342	3	3	21	1	0	0	0	0	1	0	0	0	6769	101	4	3	1299	3	GRIA3	23	122537342	Missense_Mutation	SNP	A	TCGA-BR-4363-01A-01D-1158-08	217605	122537342	32733218	682	20417											
XPNPEP2	7512	broad.mit.edu	37	chrX	128890518	128890519	+	Frame_Shift_Ins	INS	-	-	G													gatgtacctgctggactctgINSgggggcagtactggtatgta							TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:128890517_128890518T>TG	uc004eut.1	+	13	1597_1598	c.1353_1354T>TG	c.(1351-1356)tctgggfs	p.S451fs		NM_003399	NP_003390	O43895	XPP2_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.	451					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TGCTGGACTCTGGGGGGCAGTA	0.579													G	128890519	-	G	128890518	7	5	21	1	0	1	1	0	0	0	0	0	17440	1348	47	0	1408	0	XPNPEP2	23	128890518	Frame_Shift_Ins	INS	-	TCGA-BR-4363-01A-01D-1158-08	6353176	128890518	26380042	683	20418											
BCORL1	63035	broad.mit.edu	37	chrX	129147951	129147951	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacccatgcctgctgccacGccagctgccattcccacctc	6	21	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:129147951G>A	uc004evb.1	+	4	1317	c.1203G>A	c.(1201-1203)ACG>ACA	p.T401T	BCORL1_uc010nrd.1_Silent_p.T303T	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	401	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						ctgctgccacgccagctgcca	0.154													A	129147951	G	A	129147951	2	1	21	1	0	0	0	0	0	0	0	1	1387	1074	38	1		1	BCORL1	23	129147951	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	257433	129147951	26122609	684	20419											
ZNF280C	55609	broad.mit.edu	37	chrX	129370483	129370483	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggatgtcactggaggagaGccaattaaaggcaatgaagt	14	5	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:129370483G>A	uc004evm.2	-	7	778	c.624C>T	c.(622-624)GGC>GGT	p.G208G	ZNF280C_uc010nrf.1_Silent_p.G208G	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	208	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3						CTGGAGGAGAGCCAATTAAAG	0.333													A	129370483	G	A	129370483	2	1	21	1	0	0	0	0	0	0	0	1	17813	958	34	2		2	ZNF280C	23	129370483	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	222532	129370483	25900077	685	20420											
FHL1	2273	broad.mit.edu	37	chrX	135292049	135292049	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtttggtaaaggctccagTgtggtggcctatgaaggaca	16	6	0	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:135292049T>C	uc004ezo.2	+	7	1008	c.908T>C	c.(907-909)GTG>GCG	p.V303A	FHL1_uc010nrz.2_Silent_p.S236S|FHL1_uc004ezm.2_RNA|FHL1_uc004ezl.2_Silent_p.S236S|FHL1_uc004ezq.2_Missense_Mutation_p.V174A|FHL1_uc011mvy.1_Silent_p.S236S|FHL1_uc011mvz.1_Silent_p.S236S|FHL1_uc004ezn.2_Silent_p.S236S|FHL1_uc011mwa.1_Silent_p.S265S|FHL1_uc011mwb.1_RNA|FHL1_uc004ezp.2_Silent_p.S252S|FHL1_uc004ezr.2_Missense_Mutation_p.V55A	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	four and a half LIM domains 1 isoform 1	303					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)					AAGGCTCCAGTGTGGTGGCCT	0.363											OREG0019943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	135292049	T	C	135292049	3	2	21	1	0	0	0	0	1	0	0	0	5878	1696	59	3	1047	3	FHL1	23	135292049	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	5921566	135292049	19978511	686	20421											
ARHGEF6	9459	broad.mit.edu	37	chrX	135789067	135789067	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggaaatgttaactatttacCtgtgctgagtgagcacattt	10	6	0	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:135789067C>A	uc004fab.2	-	9	1508	c.1046G>T	c.(1045-1047)AGT>ATT	p.S349I	ARHGEF6_uc011mwd.1_Missense_Mutation_p.S222I|ARHGEF6_uc011mwe.1_Missense_Mutation_p.S195I	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	349	DH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					AACTATTTACCTGTGCTGAGT	0.413													A	135789067	C	A	135789067	3	1	21	1	0	0	0	0	1	0	0	0	910	695	24	5	1340	5	ARHGEF6	23	135789067	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	497018	135789067	19481493	687	20422											
MAGEA10	4109	broad.mit.edu	37	chrX	151303089	151303089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggctctctcttcctcatctTtcaaagcctcctcataccac	4	17	6	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:151303089T>C	uc004ffk.2	-	5	1412	c.1004A>G	c.(1003-1005)AAA>AGA	p.K335R	MAGEA10_uc004ffl.2_Missense_Mutation_p.K335R	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	335											0	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTCATCTTTCAAAGCCTC	0.483													C	151303089	T	C	151303089	3	2	21	1	0	0	0	0	1	0	0	0	9164	1841	64	3	109	3	MAGEA10	23	151303089	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	15514022	151303089	3967471	688	20423											
HAUS7	55559	broad.mit.edu	37	chrX	152721808	152721808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctcctcctcggacttgGcagaggcactggccctgcag	11	16	1	1			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:152721808G>A	uc004fho.1	-	7	1208	c.650C>T	c.(649-651)GCC>GTC	p.A217V	HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA|HAUS7_uc004fhn.1_Missense_Mutation_p.A217V|HAUS7_uc004fhp.1_RNA|HAUS7_uc011myq.1_RNA	NM_017518	NP_059988	Q99871	HAUS7_HUMAN	HAUS augmin-like complex subunit 7	217	Potential.				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding				0						CTCGGACTTGGCAGAGGCACT	0.617													A	152721808	G	A	152721808	3	1	21	1	0	0	0	0	1	0	0	0	6971	1203	42	2	472	2	HAUS7	23	152721808	Missense_Mutation	SNP	G	TCGA-BR-4363-01A-01D-1158-08	1418719	152721808	2548752	689	20424											
ATP2B3	492	broad.mit.edu	37	chrX	152813345	152813345	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcagcccctgaagagcgcGgagggtggggagatggagga	20	7	0	3	rs142541769	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:152813345G>A	uc004fht.1	+	7	1137	c.1011G>A	c.(1009-1011)GCG>GCA	p.A337A	ATP2B3_uc004fhs.1_Silent_p.A337A	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	337	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGAGCGCGGAGGGTGGGG	0.592													A	152813345	G	A	152813345	2	1	21	1	0	0	0	0	0	0	0	1	1141	1103	39	1		1	ATP2B3	23	152813345	Silent	SNP	G	TCGA-BR-4363-01A-01D-1158-08	91537	152813345	2457215	690	20425											
PLXNB3	5365	broad.mit.edu	37	chrX	153036432	153036432	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccccagggcctgcctgccTccttccactgctggctggag	11	17	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:153036432T>G	uc004fii.2	+	12	2323	c.2149T>G	c.(2149-2151)TCC>GCC	p.S717A	PLXNB3_uc011mzb.1_Silent_p.P172P|PLXNB3_uc011mzc.1_Missense_Mutation_p.S399A|PLXNB3_uc010nuk.2_Missense_Mutation_p.S740A|PLXNB3_uc011mzd.1_Missense_Mutation_p.S356A	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	717	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCCTGCCTCCTTCCACTG	0.647													G	153036432	T	G	153036432	3	3	21	1	0	0	0	0	1	0	0	0	12125	1551	54	5	2309	5	PLXNB3	23	153036432	Missense_Mutation	SNP	T	TCGA-BR-4363-01A-01D-1158-08	223087	153036432	2234128	691	20426											
ARHGAP4	393	broad.mit.edu	37	chrX	153175711	153175711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggaagacccgatcgggCtgcactatgagcgtctgcac	15	12	1	2			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:153175711C>T	uc004fjk.1	-	17	2112	c.2070G>A	c.(2068-2070)CAG>CAA	p.Q690Q	ARHGAP4_uc004fjj.1_Silent_p.Q41Q|ARHGAP4_uc011mzf.1_Silent_p.Q667Q|ARHGAP4_uc004fjl.1_Silent_p.Q730Q|ARHGAP4_uc010nup.1_Intron	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2	690	Rho-GAP.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGATCGGGCTGCACTATGA	0.701													T	153175711	C	T	153175711	2	4	21	1	0	0	0	0	0	0	0	1	885	796	28	2		2	ARHGAP4	23	153175711	Silent	SNP	C	TCGA-BR-4363-01A-01D-1158-08	139279	153175711	2094849	692	20427											
FLNA	2316	broad.mit.edu	37	chrX	153585838	153585838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcgtccccggtgggcaCggcacgcacgcggtacgggg	19	14	0	0			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:153585838C>T	uc004fkk.2	-	29	5158	c.4909G>A	c.(4909-4911)GTG>ATG	p.V1637M	FLNA_uc011mzn.1_Translation_Start_Site|FLNA_uc010nuu.1_Missense_Mutation_p.V1637M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1637			Missing (in otopalatodigital spectrum disorder).		actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGGTGGGCACGGCACGCACG	0.657													T	153585838	C	T	153585838	3	4	21	1	0	0	0	0	1	0	0	0	5933	536	19	1	3114	1	FLNA	23	153585838	Missense_Mutation	SNP	C	TCGA-BR-4363-01A-01D-1158-08	410127	153585838	1684722	693	20428											
CAMTA1	23261	broad.mit.edu	37	chr1	7725165	7725165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacgtcgccgaggtggtctCggccgcctcggcccagggca	16	16	1	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr1:7725165C>T	uc001aoi.2	+	9	2765	c.2558C>T	c.(2557-2559)TCG>TTG	p.S853L		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GAGGTGGTCTCGGCCGCCTCG	0.672													T	7725165	C	T	7725165	3	4	22	1	0	0	0	0	1	0	0	0	2613	893	31	1	2592	1	CAMTA1	1	7725165	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08		7725165	241525456	1	20429											
ZNF643	65243	broad.mit.edu	37	chr1	40928715	40928715	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccttcatcgcttactcaacaTgttagaattcataccgggga	7	11	3	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr1:40928715T>A	uc001cfn.1	+	5	1356	c.1059T>A	c.(1057-1059)CAT>CAA	p.H353Q	ZNF643_uc001cfl.1_Missense_Mutation_p.H251Q|ZNF643_uc001cfm.1_Missense_Mutation_p.H219Q	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	zinc finger protein 643	353	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			TTACTCAACATGTTAGAATTC	0.428													A	40928715	T	A	40928715	3	1	22	1	0	0	0	0	1	0	0	0	18056	1461	51	5	1077	5	ZNF643	1	40928715	Missense_Mutation	SNP	T	TCGA-BR-4366-01A-01D-1158-08	33203550	40928715	208321906	2	20430											
C1orf168	199920	broad.mit.edu	37	chr1	57258418	57258418	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atttaataggtcctggaagaGgtggagcatcaagattttga	12	4	1	3			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr1:57258418G>C	uc001cym.3	-	2	474	c.68C>G	c.(67-69)CCT>CGT	p.P23R	C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Missense_Mutation_p.P23R	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	hypothetical protein LOC199920	23										ovary(3)|skin(2)	5						TCCTGGAAGAGGTGGAGCATC	0.398													C	57258418	G	C	57258418	3	2	22	1	0	0	0	0	1	0	0	0	2012	1000	35	5	2194	5	C1orf168	1	57258418	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	16329703	57258418	191992203	3	20431											
WDR78	79819	broad.mit.edu	37	chr1	67306240	67306240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtcgttccaagttggcgGgtattgttgattcttctgca	11	7	2	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr1:67306240G>A	uc001dcx.2	-	9	1462	c.1406C>T	c.(1405-1407)CCC>CTC	p.P469L	WDR78_uc001dcy.2_Missense_Mutation_p.P469L|WDR78_uc009waw.2_Missense_Mutation_p.P215L|WDR78_uc009wax.2_RNA	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	469										ovary(2)	2						CAAGTTGGCGGGTATTGTTGA	0.408													A	67306240	G	A	67306240	3	1	22	1	0	0	0	0	1	0	0	0	17325	1232	43	4	1233	4	WDR78	1	67306240	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	10047822	67306240	181944381	4	20432											
LPHN2	23266	broad.mit.edu	37	chr1	82372880	82372880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatggagaatacagactgCtacctccccgatgccttcaa	8	13	1	3			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr1:82372880C>T	uc001dit.3	+	4	433	c.252C>T	c.(250-252)TGC>TGT	p.C84C	LPHN2_uc001dis.2_Silent_p.C84C|LPHN2_uc001diu.2_Silent_p.C84C|LPHN2_uc001div.2_Silent_p.C84C|LPHN2_uc009wcd.2_Silent_p.C84C	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	84	Extracellular (Potential).|SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATACAGACTGCTACCTCCCCG	0.408													T	82372880	C	T	82372880	2	4	22	1	0	0	0	0	0	0	0	1	8916	805	28	2		2	LPHN2	1	82372880	Silent	SNP	C	TCGA-BR-4366-01A-01D-1158-08	15066640	82372880	166877741	5	20433											
SLC44A3	126969	broad.mit.edu	37	chr1	95357932	95357932	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccctctgttattggtagcTttttttgcctacttagtagc	8	9	1	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr1:95357932T>C	uc001dqv.3	+	14	1823	c.1716T>C	c.(1714-1716)GCT>GCC	p.A572A	SLC44A3_uc001dqx.3_Silent_p.A571A|SLC44A3_uc010otq.1_Silent_p.A504A|SLC44A3_uc010otr.1_Silent_p.A536A|SLC44A3_uc001dqw.3_Silent_p.A524A|SLC44A3_uc010ots.1_Silent_p.A492A|SLC44A3_uc009wds.2_Silent_p.A475A|SLC44A3_uc010ott.1_Silent_p.A491A	NM_001114106	NP_001107578	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3 isoform 1	572	Helical; (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)	1		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TATTGGTAGCTTTTTTTGCCT	0.423													C	95357932	T	C	95357932	2	2	22	1	0	0	0	0	0	0	0	1	14637	1596	56	3		3	SLC44A3	1	95357932	Silent	SNP	T	TCGA-BR-4366-01A-01D-1158-08	12985052	95357932	153892689	6	20434											
DPYD	1806	broad.mit.edu	37	chr1	98039509	98039509	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaaattcacacttttcTtccttagcaagttccatcta	5	11	3	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr1:98039509T>A	uc001drv.2	-	11	1283	c.1146A>T	c.(1144-1146)GAA>GAT	p.E382D		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	382					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CACACTTTTCTTCCTTAGCAA	0.368													A	98039509	T	A	98039509	3	1	22	1	0	0	0	0	1	0	0	0	4745	1606	56	5	1983	5	DPYD	1	98039509	Missense_Mutation	SNP	T	TCGA-BR-4366-01A-01D-1158-08	2681577	98039509	151211112	7	20435											
CELSR2	1952	broad.mit.edu	37	chr1	109806965	109806965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagccggcggtgtggcccGtggctttcggggctgtttgc	18	12	0	0	rs142723500		TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr1:109806965G>A	uc001dxa.3	+	10	5328	c.5267G>A	c.(5266-5268)CGT>CAT	p.R1756H		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1756	Extracellular (Potential).|Laminin G-like 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGTGTGGCCCGTGGCTTTCGG	0.672											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	109806965	G	A	109806965	3	1	22	1	0	0	0	0	1	0	0	0	3222	1145	40	1	5305	1	CELSR2	1	109806965	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	11767456	109806965	139443656	8	20436											
OVGP1	5016	broad.mit.edu	37	chr1	111957318	111957318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccatcctggggtgagtgCccacctcagaagtcaaattc	9	13	2	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr1:111957318C>T	uc001eba.2	-	11	1861	c.1805G>A	c.(1804-1806)GGC>GAC	p.G602D	OVGP1_uc001eaz.2_Missense_Mutation_p.G564D|OVGP1_uc010owb.1_Missense_Mutation_p.G250D	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1 precursor	602					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			ovary(4)|large_intestine(1)	5		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GGGGTGAGTGCCCACCTCAGA	0.537													T	111957318	C	T	111957318	3	4	22	1	0	0	0	0	1	0	0	0	11325	739	26	2	235	2	OVGP1	1	111957318	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	2150353	111957318	137293303	9	20437											
MOV10	4343	broad.mit.edu	37	chr1	113239107	113239107	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacttcacacacatcttcatCgatgaggctggccactgcat	7	14	3	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr1:113239107C>T	uc001eck.2	+	13	2202	c.1932C>T	c.(1930-1932)ATC>ATT	p.I644I	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Silent_p.I644I|MOV10_uc001ecm.2_Silent_p.I584I|MOV10_uc009wgj.1_3'UTR	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	644					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		ACATCTTCATCGATGAGGCTG	0.567													T	113239107	C	T	113239107	2	4	22	1	0	0	0	0	0	0	0	1	9718	874	31	1		1	MOV10	1	113239107	Silent	SNP	C	TCGA-BR-4366-01A-01D-1158-08	1281789	113239107	136011514	10	20438											
FMO5	2330	broad.mit.edu	37	chr1	146658693	146658693	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcagggtcccagtaatAagtgtaatgccagcttgggg	15	7	0	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr1:146658693A>G	uc001epi.2	-	9	1777	c.1388T>C	c.(1387-1389)TTA>TCA	p.L463S	FMO5_uc001eph.3_Intron|FMO5_uc001epj.2_3'UTR	NM_001461	NP_001452	P49326	FMO5_HUMAN	flavin containing monooxygenase 5 isoform 1	463						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			ovary(3)	3	all_hematologic(923;0.0487)					TCCCAGTAATAAGTGTAATGC	0.532													G	146658693	A	G	146658693	3	3	22	1	0	0	0	0	1	0	0	0	5958	372	13	3	360	3	FMO5	1	146658693	Missense_Mutation	SNP	A	TCGA-BR-4366-01A-01D-1158-08	33419586	146658693	102591928	11	20439											
SPTA1	6708	broad.mit.edu	37	chr1	158585084	158585084	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggtcccactgctgagccaatCcaatggtgctgtatttgata	10	10	0	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr1:158585084C>G	uc001fst.1	-	48	6909	c.6710G>C	c.(6709-6711)GGA>GCA	p.G2237A		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2237	Spectrin 21.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CTGAGCCAATCCAATGGTGCT	0.527													G	158585084	C	G	158585084	3	3	22	1	0	0	0	0	1	0	0	0	15115	855	30	5	569	5	SPTA1	1	158585084	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	11926391	158585084	90665537	12	20440											
OR10J5	127385	broad.mit.edu	37	chr1	159505686	159505686	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgttagcaaccagagTtaaaatgtagacagttagga	11	4	0	3			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr1:159505686T>G	uc010piw.1	-	1	112	c.112A>C	c.(112-114)ACT>CCT	p.T38P		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J,	38	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_hematologic(112;0.0429)					GCAACCAGAGTTAAAATGTAG	0.398													G	159505686	T	G	159505686	3	3	22	1	0	0	0	0	1	0	0	0	10912	1725	60	5	819	5	OR10J5	1	159505686	Missense_Mutation	SNP	T	TCGA-BR-4366-01A-01D-1158-08	920602	159505686	89744935	13	20441											
OLFML2B	25903	broad.mit.edu	37	chr1	161967674	161967674	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgtggggctggcaggggttGttccccacccagcaggagca	17	12	0	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr1:161967674G>T	uc001gbu.2	-	6	1839	c.1415C>A	c.(1414-1416)ACA>AAA	p.T472K	OLFML2B_uc010pkq.1_Missense_Mutation_p.T473K	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	472										skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGCAGGGGTTGTTCCCCACCC	0.567													T	161967674	G	T	161967674	3	4	22	1	0	0	0	0	1	0	0	0	10858	1377	48	5	849	5	OLFML2B	1	161967674	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	2461988	161967674	87282947	14	20442											
SLC19A2	10560	broad.mit.edu	37	chr1	169446719	169446719	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaaagtggcacttcgacAgtaacttgtgactttctggt	9	10	1	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr1:169446719A>C	uc001gge.3	-	2	685	c.481T>G	c.(481-483)TGT>GGT	p.C161G	SLC19A2_uc001ggf.3_Intron	NM_006996	NP_008927	O60779	S19A2_HUMAN	solute carrier family 19, member 2	161	Cytoplasmic (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity				0	all_hematologic(923;0.208)					GCACTTCGACAGTAACTTGTG	0.483													C	169446719	A	C	169446719	3	2	22	1	0	0	0	0	1	0	0	0	14429	188	7	5	1032	5	SLC19A2	1	169446719	Missense_Mutation	SNP	A	TCGA-BR-4366-01A-01D-1158-08	7479045	169446719	79803902	15	20443											
FMO1	2326	broad.mit.edu	37	chr1	171251385	171251385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatctgcaaaagccaaccCtggccattattggcctcatc	6	15	2	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr1:171251385C>T	uc009wvz.2	+	7	1232	c.1096C>T	c.(1096-1098)CTG>TTG	p.L366L	FMO1_uc010pme.1_Silent_p.L303L|FMO1_uc001ghl.2_Silent_p.L366L|FMO1_uc001ghm.2_Silent_p.L366L|FMO1_uc001ghn.2_Silent_p.L366L	NM_002021	NP_002012	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	366					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAAGCCAACCCTGGCCATTAT	0.473													T	171251385	C	T	171251385	2	4	22	1	0	0	0	0	0	0	0	1	5954	680	24	4		4	FMO1	1	171251385	Silent	SNP	C	TCGA-BR-4366-01A-01D-1158-08	1804666	171251385	77999236	16	20444											
HMCN1	83872	broad.mit.edu	37	chr1	185959498	185959498	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggaagaggtaacacttccAtgtgaagtgaagagcttacc	13	7	0	4			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr1:185959498A>G	uc001grq.1	+	22	3529	c.3300A>G	c.(3298-3300)CCA>CCG	p.P1100P	HMCN1_uc001grr.1_Silent_p.P441P	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1100	Ig-like C2-type 8.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TAACACTTCCATGTGAAGTGA	0.483													G	185959498	A	G	185959498	2	3	22	1	0	0	0	0	0	0	0	1	7220	204	8	3		3	HMCN1	1	185959498	Silent	SNP	A	TCGA-BR-4366-01A-01D-1158-08	14708113	185959498	63291123	17	20445											
MARK1	4139	broad.mit.edu	37	chr1	220825398	220825398	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgctgtcccctcagcaCgaccccgccaccagaagtcc	7	21	2	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr1:220825398C>T	uc001hmn.3	+	15	2239	c.1642C>T	c.(1642-1644)CGA>TGA	p.R548*	MARK1_uc009xdw.2_Nonsense_Mutation_p.R548*|MARK1_uc010pun.1_Nonsense_Mutation_p.R548*|MARK1_uc001hmm.3_Nonsense_Mutation_p.R526*	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	548					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)		CCCCTCAGCACGACCCCGCCA	0.512													T	220825398	C	T	220825398	4	4	22	1	0	0	0	0	0	1	0	0	9312	528	19	1	1700	1	MARK1	1	220825398	Nonsense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	34865900	220825398	28425223	18	20446											
OR2G6	391211	broad.mit.edu	37	chr1	248685614	248685614	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctcctatggctttatcactCaagctgtgttaaggataaaa	7	8	3	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr1:248685614C>G	uc001ien.1	+	1	667	c.667C>G	c.(667-669)CAA>GAA	p.Q223E		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	223	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTTATCACTCAAGCTGTGTT	0.468													G	248685614	C	G	248685614	3	3	22	1	0	0	0	0	1	0	0	0	11000	827	29	5	669	5	OR2G6	1	248685614	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	27860216	248685614	565007	19	20447											
SPTBN1	6711	broad.mit.edu	37	chr2	54891664	54891664	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgagctctaaagagtccagCcccatcccctccccgacctc	6	20	1	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr2:54891664C>A	uc002rxu.2	+	33	6744	c.6495C>A	c.(6493-6495)AGC>AGA	p.S2165R	SPTBN1_uc010you.1_Missense_Mutation_p.S155R	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	2165					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			AAGAGTCCAGCCCCATCCCCT	0.597													A	54891664	C	A	54891664	3	1	22	1	0	0	0	0	1	0	0	0	15118	738	26	5	6821	5	SPTBN1	2	54891664	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08		54891664	188307709	20	20448											
FER1L5	90342	broad.mit.edu	37	chr2	97361584	97361584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggccaacatcgacttcCtccagccctacttctgtgac	7	17	1	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr2:97361584C>T	uc010fia.2	+	35	4081	c.4081C>T	c.(4081-4083)CTC>TTC	p.L1361F	FER1L5_uc002sws.3_Missense_Mutation_p.L79F|FER1L5_uc010fib.1_RNA|FER1L5_uc002swt.3_Missense_Mutation_p.L79F|FER1L5_uc010yus.1_Missense_Mutation_p.L78F	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	1361						integral to membrane				ovary(1)	1						CATCGACTTCCTCCAGCCCTA	0.617													T	97361584	C	T	97361584	3	4	22	1	0	0	0	0	1	0	0	0	5814	681	24	4	4219	4	FER1L5	2	97361584	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	42469920	97361584	145837789	21	20449											
SH3RF3	344558	broad.mit.edu	37	chr2	110053479	110053479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccactgccaccaggcccGccctgcccatcaccactccc	7	23	1	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr2:110053479G>A	uc010ywt.1	+	7	1705	c.1705G>A	c.(1705-1707)GCC>ACC	p.A569T		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	569							zinc ion binding			ovary(1)	1						CACCAGGCCCGCCCTGCCCAT	0.657													A	110053479	G	A	110053479	3	1	22	1	0	0	0	0	1	0	0	0	14260	1087	38	1	1731	1	SH3RF3	2	110053479	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	12691895	110053479	133145894	22	20450											
ZC3H6	376940	broad.mit.edu	37	chr2	113088706	113088706	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caacaaccttccacagaactCagcactcctactgatccaag	4	16	1	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr2:113088706C>G	uc002thq.1	+	12	2605	c.2211C>G	c.(2209-2211)CTC>CTG	p.L737L		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	737							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4						CCACAGAACTCAGCACTCCTA	0.408													G	113088706	C	G	113088706	2	3	22	1	0	0	0	0	0	0	0	1	17568	813	29	5		5	ZC3H6	2	113088706	Silent	SNP	C	TCGA-BR-4366-01A-01D-1158-08	3035227	113088706	130110667	23	20451											
LRP1B	53353	broad.mit.edu	37	chr2	141272221	141272221	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagaagatacacaacttaCcacaaatgctgtcactttca	5	11	2	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr2:141272221C>T	uc002tvj.1	-	51	9241	c.8269_splice	c.e51+1	p.G2757_splice		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACACAACTTACCACAAATGCT	0.318										TSP Lung(27;0.18)			T	141272221	C	T	141272221	5	4	22	1	0	0	0	0	0	0	1	0	8955	521	18	4	5693	4	LRP1B	2	141272221	Splice_Site	SNP	C	TCGA-BR-4366-01A-01D-1158-08	28183515	141272221	101927152	24	20452											
LRP1B	53353	broad.mit.edu	37	chr2	141625336	141625336	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcaaagggatgggaaaggtAttcatgacctcggatgattt	13	5	1	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr2:141625336A>T	uc002tvj.1	-	27	5374	c.4402T>A	c.(4402-4404)TAC>AAC	p.Y1468N	LRP1B_uc010fnl.1_Missense_Mutation_p.Y650N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1468	Extracellular (Potential).|LDL-receptor class B 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGGAAAGGTATTCATGACCT	0.423										TSP Lung(27;0.18)			T	141625336	A	T	141625336	3	4	22	1	0	0	0	0	1	0	0	0	8955	449	16	5	9657	5	LRP1B	2	141625336	Missense_Mutation	SNP	A	TCGA-BR-4366-01A-01D-1158-08	353115	141625336	101574037	25	20453											
ARHGAP15	55843	broad.mit.edu	37	chr2	144245037	144245037	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgaagaccttccctgaaaActctgcaagaaaaaggactt	7	12	1	3			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr2:144245037A>C	uc002tvm.3	+	9	950	c.799A>C	c.(799-801)ACT>CCT	p.T267P	ARHGAP15_uc002tvn.2_Missense_Mutation_p.T33P	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	267					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)		TTCCCTGAAAACTCTGCAAGA	0.373													C	144245037	A	C	144245037	3	2	22	1	0	0	0	0	1	0	0	0	866	43	2	5	829	5	ARHGAP15	2	144245037	Missense_Mutation	SNP	A	TCGA-BR-4366-01A-01D-1158-08	2619701	144245037	98954336	26	20454											
ZEB2	9839	broad.mit.edu	37	chr2	145147197	145147197	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcgaactcctcgtcgcCatcctgtctgcccagcttcc	6	20	1	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr2:145147197C>A	uc002tvu.2	-	10	3946	c.3466G>T	c.(3466-3468)GGC>TGC	p.G1156C	ZEB2_uc002tvv.2_Missense_Mutation_p.G1150C|ZEB2_uc010zbm.1_Missense_Mutation_p.G1127C|ZEB2_uc010fnp.2_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	1156	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCCTCGTCGCCATCCTGTCTG	0.532													A	145147197	C	A	145147197	3	1	22	1	0	0	0	0	1	0	0	0	17621	594	21	5	182	5	ZEB2	2	145147197	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	902160	145147197	98052176	27	20455											
DNAH7	56171	broad.mit.edu	37	chr2	196636411	196636411	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttttgaatatttacgcaCgaatctcttatggtcttcag	7	8	3	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr2:196636411C>T	uc002utj.3	-	61	11507	c.11406G>A	c.(11404-11406)TCG>TCA	p.S3802S	DNAH7_uc002uti.3_Silent_p.S285S	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3802					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TATTTACGCACGAATCTCTTA	0.328													T	196636411	C	T	196636411	2	4	22	1	0	0	0	0	0	0	0	1	4606	523	19	1		1	DNAH7	2	196636411	Silent	SNP	C	TCGA-BR-4366-01A-01D-1158-08	51489214	196636411	46562962	28	20456											
GTF3C3	9330	broad.mit.edu	37	chr2	197639881	197639881	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	actcttggtcattgctgtctGatattttgtctctcgatact	7	9	4	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr2:197639881G>C	uc002uts.2	-	13	1880	c.1790C>G	c.(1789-1791)TCA>TGA	p.S597*	GTF3C3_uc010zgu.1_Nonsense_Mutation_p.S568*	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	597						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						ATTGCTGTCTGATATTTTGTC	0.348													C	197639881	G	C	197639881	4	2	22	1	0	0	0	0	0	1	0	0	6874	1294	45	5	894	5	GTF3C3	2	197639881	Nonsense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	1003470	197639881	45559492	29	20457											
ALPP	250	broad.mit.edu	37	chr2	233243531	233243531	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acatgctggggccctgcatgCtgctgctgctgctgctgctg	14	13	0	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr2:233243531C>G	uc002vsq.2	+	1	184	c.19C>G	c.(19-21)CTG>GTG	p.L7V	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	7						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCCCTGCAtgctgctgctgct	0.542													G	233243531	C	G	233243531	3	3	22	1	0	0	0	0	1	0	0	0	548	796	28	5	21	5	ALPP	2	233243531	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	35603650	233243531	9955842	30	20458											
CNTN6	27255	broad.mit.edu	37	chr3	1394007	1394007	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aatgatgtattttctttttaGaatatttctcttggaggatg	8	3	2	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr3:1394007G>C	uc003boz.2	+	12	1632	c.1365_splice	c.e12-1	p.R455_splice	CNTN6_uc011asj.1_Splice_Site_p.R383_splice|CNTN6_uc003bpa.2_Splice_Site_p.R455_splice	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor						axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TTTCTTTTTAGAATATTTCTC	0.328													C	1394007	G	C	1394007	5	2	22	1	0	0	0	0	0	0	1	0	3645	956	33	5	1406	5	CNTN6	3	1394007	Splice_Site	SNP	G	TCGA-BR-4366-01A-01D-1158-08		1394007	196628423	31	20459											
CNTN6	27255	broad.mit.edu	37	chr3	1424781	1424781	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatcccactgtctcccttTgaagtcaaagtgggtgtgta	9	10	3	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr3:1424781T>G	uc003boz.2	+	18	2589	c.2322T>G	c.(2320-2322)TTT>TTG	p.F774L	CNTN6_uc011asj.1_Missense_Mutation_p.F702L|CNTN6_uc003bpa.2_Missense_Mutation_p.F774L	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	774	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGTCTCCCTTTGAAGTCAAAG	0.468													G	1424781	T	G	1424781	3	3	22	1	0	0	0	0	1	0	0	0	3645	1809	63	5	2388	5	CNTN6	3	1424781	Missense_Mutation	SNP	T	TCGA-BR-4366-01A-01D-1158-08	30774	1424781	196597649	32	20460											
SLC25A38	54977	broad.mit.edu	37	chr3	39433101	39433101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctatcactgtaatcaagaCgcgctatgaggtgagttcaa	9	9	3	3	rs143865753		TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr3:39433101C>T	uc003cjo.2	+	4	847	c.446C>T	c.(445-447)ACG>ATG	p.T149M		NM_017875	NP_060345	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	149	Solcar 2.				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GTAATCAAGACGCGCTATGAG	0.562													T	39433101	C	T	39433101	3	4	22	1	0	0	0	0	1	0	0	0	14502	536	19	1	460	1	SLC25A38	3	39433101	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	38008320	39433101	158589329	33	20461											
P4HTM	54681	broad.mit.edu	37	chr3	49027828	49027828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggcgaggacgcaccggtgCgtccgctgtgcaagccccgc	15	16	0	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr3:49027828C>T	uc003cvg.2	+	1	488	c.139C>T	c.(139-141)CGT>TGT	p.R47C	P4HTM_uc003cvh.2_Missense_Mutation_p.R47C	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN	hypoxia-inducible factor prolyl 4-hydroxylase	47	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)|pancreas(1)	2					Vitamin C(DB00126)	CGCACCGGTGCGTCCGCTGTG	0.731													T	49027828	C	T	49027828	3	4	22	1	0	0	0	0	1	0	0	0	11360	768	27	1	141	1	P4HTM	3	49027828	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	9594727	49027828	148994602	34	20462											
LAMB2	3913	broad.mit.edu	37	chr3	49160188	49160188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgaagttcctggttggCctgttccacctgtcccctgg	10	13	1	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr3:49160188C>T	uc003cwe.2	-	27	4821	c.4522G>A	c.(4522-4524)GCC>ACC	p.A1508T	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1508	Potential.|Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCTGGTTGGCCTGTTCCACC	0.597													T	49160188	C	T	49160188	3	4	22	1	0	0	0	0	1	0	0	0	8611	739	26	2	898	2	LAMB2	3	49160188	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	132360	49160188	148862242	35	20463											
TMEM115	11070	broad.mit.edu	37	chr3	50396054	50396054	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccatggtttgcttgagtgcCaccaggacgccacctaggaa	11	13	0	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr3:50396054C>G	uc003dan.1	-	1	886	c.441G>C	c.(439-441)GTG>GTC	p.V147V		NM_007024	NP_008955	Q12893	TM115_HUMAN	PL6 protein	147	Helical; (Potential).				negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus					0				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCTTGAGTGCCACCAGGACGC	0.517													G	50396054	C	G	50396054	2	3	22	1	0	0	0	0	0	0	0	1	16026	581	21	5		5	TMEM115	3	50396054	Silent	SNP	C	TCGA-BR-4366-01A-01D-1158-08	1235866	50396054	147626376	36	20464											
HTR1F	3355	broad.mit.edu	37	chr3	88040851	88040851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaagaattagttgttaatGtctgtgacaaatgtaaaatt	7	2	1	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr3:88040851G>A	uc003dqr.2	+	2	1110	c.952G>A	c.(952-954)GTC>ATC	p.V318I		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	318	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AGTTGTTAATGTCTGTGACAA	0.348													A	88040851	G	A	88040851	3	1	22	1	0	0	0	0	1	0	0	0	7440	1377	48	4	954	4	HTR1F	3	88040851	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	37644797	88040851	109981579	37	20465											
DZIP3	9666	broad.mit.edu	37	chr3	108380769	108380769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actatggagaaactgaaaagGaaaggcttgctcgtcaaagg	12	6	1	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr3:108380769G>A	uc003dxd.2	+	20	2667	c.2245G>A	c.(2245-2247)GAA>AAA	p.E749K	DZIP3_uc003dxf.1_Missense_Mutation_p.E749K|DZIP3_uc011bhm.1_Missense_Mutation_p.E200K	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	749					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						AACTGAAAAGGAAAGGCTTGC	0.348													A	108380769	G	A	108380769	3	1	22	1	0	0	0	0	1	0	0	0	4865	1175	41	4	2319	4	DZIP3	3	108380769	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	20339918	108380769	89641661	38	20466											
ITGB5	3693	broad.mit.edu	37	chr3	124527925	124527925	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accaggataggataccccatCttggcaggtagcagtaaaga	11	9	1	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr3:124527925C>A	uc003eho.2	-	9	1504	c.1207G>T	c.(1207-1209)GAT>TAT	p.D403Y	ITGB5_uc010hrx.2_Intron	NM_002213	NP_002204	P18084	ITB5_HUMAN	integrin, beta 5 precursor	403	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			skin(2)	2				GBM - Glioblastoma multiforme(114;0.163)		GATACCCCATCTTGGCAGGTA	0.463													A	124527925	C	A	124527925	3	1	22	1	0	0	0	0	1	0	0	0	7898	913	32	5	1220	5	ITGB5	3	124527925	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	16147156	124527925	73494505	39	20467											
COL6A6	131873	broad.mit.edu	37	chr3	130381114	130381114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaacctgaccacagttatgGtgtgaagtttgtgaagtcct	10	7	0	3			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr3:130381114G>A	uc010htl.2	+	34	6495	c.6464G>A	c.(6463-6465)GGT>GAT	p.G2155D	COL6A6_uc003eni.3_Missense_Mutation_p.G254D	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	2155	VWFA 9.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						CACAGTTATGGTGTGAAGTTT	0.418													A	130381114	G	A	130381114	3	1	22	1	0	0	0	0	1	0	0	0	3703	1261	44	4	6598	4	COL6A6	3	130381114	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	5853189	130381114	67641316	40	20468											
STAG1	10274	broad.mit.edu	37	chr3	136342064	136342064	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcgctgccagcatcggaaTgggcagtagtttcattagtt	12	9	1	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr3:136342064T>C	uc003era.1	-	3	348	c.56A>G	c.(55-57)CAT>CGT	p.H19R	STAG1_uc003erb.1_Missense_Mutation_p.H19R|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003ere.2_Missense_Mutation_p.H19R	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	19					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						AGCATCGGAATGGGCAGTAGT	0.388													C	136342064	T	C	136342064	3	2	22	1	0	0	0	0	1	0	0	0	15241	1464	51	3	3848	3	STAG1	3	136342064	Missense_Mutation	SNP	T	TCGA-BR-4366-01A-01D-1158-08	5960950	136342064	61680366	41	20469											
ATP1B3	483	broad.mit.edu	37	chr3	141644421	141644421	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggtcagctttgctcctAacaacactgggaaagaagta	9	9	2	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr3:141644421A>G	uc003eug.1	+	7	892	c.718A>G	c.(718-720)AAC>GAC	p.N240D	ATP1B3_uc011bne.1_RNA|ATP1B3_uc003euh.1_Missense_Mutation_p.N226D|ATP1B3_uc003eui.1_RNA	NM_001679	NP_001670	P54709	AT1B3_HUMAN	Na+/K+ -ATPase beta 3 subunit	240	Extracellular (Potential).				ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity				0						CTTTGCTCCTAACAACACTGG	0.388													G	141644421	A	G	141644421	3	3	22	1	0	0	0	0	1	0	0	0	1134	362	13	3	744	3	ATP1B3	3	141644421	Missense_Mutation	SNP	A	TCGA-BR-4366-01A-01D-1158-08	5302357	141644421	56378009	42	20470											
PHC3	80012	broad.mit.edu	37	chr3	169840471	169840471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggggttctatccatcCggacacattcatctgactct	10	11	4	1	rs146149780	by1000genomes	TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr3:169840471C>T	uc010hws.1	-	9	1878	c.1814G>A	c.(1813-1815)CGG>CAG	p.R605Q	PHC3_uc003fgl.2_Missense_Mutation_p.R617Q|PHC3_uc011bpq.1_Missense_Mutation_p.R564Q	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	polyhomeotic like 3	605	Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TCTATCCATCCGGACACATTC	0.433													T	169840471	C	T	169840471	3	4	22	1	0	0	0	0	1	0	0	0	11818	652	23	1	1165	1	PHC3	3	169840471	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	28196050	169840471	28181959	43	20471											
IL8	3576	broad.mit.edu	37	chr4	74607379	74607379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagagtggaccacactgcgCcaacacagaaattatgtaag	10	9	0	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr4:74607379C>T	uc003hhe.2	+	2	286	c.185C>T	c.(184-186)GCC>GTC	p.A62V	IL8_uc011cbh.1_Missense_Mutation_p.A62V	NM_000584	NP_000575	P10145	IL8_HUMAN	interleukin 8 precursor	62					angiogenesis|calcium-mediated signaling|cell cycle arrest|cellular response to lipopolysaccharide|embryonic digestive tract development|G-protein coupled receptor protein signaling pathway|immune response|induction of positive chemotaxis|inflammatory response|negative regulation of cell proliferation|neutrophil activation|neutrophil chemotaxis|positive regulation of neutrophil chemotaxis|regulation of cell adhesion|regulation of retroviral genome replication	extracellular space|intracellular	chemokine activity|interleukin-8 receptor binding			ovary(2)	2	Breast(15;0.00102)		all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	LUSC - Lung squamous cell carcinoma(721;0.008)	Ketoprofen(DB01009)|Salbutamol(DB01001)|Simvastatin(DB00641)|Zileuton(DB00744)	CCACACTGCGCCAACACAGAA	0.318													T	74607379	C	T	74607379	3	4	22	1	0	0	0	0	1	0	0	0	7706	739	26	2	191	2	IL8	4	74607379	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08		74607379	116546897	44	20472											
G3BP2	9908	broad.mit.edu	37	chr4	76570710	76570710	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccttggaggaggtcctctTccatcacgatcacgcatcat	8	15	4	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr4:76570710T>C	uc003hir.2	-	12	1518	c.1353A>G	c.(1351-1353)GGA>GGG	p.G451G	G3BP2_uc003his.2_Silent_p.G451G|G3BP2_uc003hit.2_Silent_p.G418G	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Ras-GTPase activating protein SH3 domain-binding	451	Gly-rich.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(2)|central_nervous_system(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GAGGTCCTCTTCCATCACGAT	0.577													C	76570710	T	C	76570710	2	2	22	1	0	0	0	0	0	0	0	1	6142	1770	62	3		3	G3BP2	4	76570710	Silent	SNP	T	TCGA-BR-4366-01A-01D-1158-08	1963331	76570710	114583566	45	20473											
PAQR3	152559	broad.mit.edu	37	chr4	79860320	79860320	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggggcaccaggaccggcCagtactggtagctgcccagc	14	15	0	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr4:79860320C>T	uc003hlp.1	-	1	263	c.59G>A	c.(58-60)TGG>TAG	p.W20*	PAQR3_uc003hlm.2_RNA|PAQR3_uc003hln.2_RNA|PAQR3_uc003hlq.1_5'UTR	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	20	Cytoplasmic (Potential).					Golgi membrane|integral to membrane	receptor activity				0						CAGGACCGGCCAGTACTGGTA	0.667													T	79860320	C	T	79860320	4	4	22	1	0	0	0	0	0	1	0	0	11436	595	21	4	900	4	PAQR3	4	79860320	Nonsense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	3289610	79860320	111293956	46	20474											
NAA11	84779	broad.mit.edu	37	chr4	80246965	80246965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcatctggtagttctcagGaaggcaaaggaggttgcagt	13	6	3	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr4:80246965G>A	uc003hlt.3	-	1	207	c.67C>T	c.(67-69)CCT>TCT	p.P23S		NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	alpha-N-acetyltransferase 1B	23	Interaction with NAA15 (By similarity).|N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2						TAGTTCTCAGGAAGGCAAAGG	0.498													A	80246965	G	A	80246965	3	1	22	1	0	0	0	0	1	0	0	0	10117	1174	41	4	626	4	NAA11	4	80246965	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	386645	80246965	110907311	47	20475											
PRKG2	5593	broad.mit.edu	37	chr4	82065442	82065443	+	Frame_Shift_Ins	INS	-	-	T													ccacatatccttcaaggtatINSttttgcagctcttcaaatgt							TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr4:82065441_82065442A>AT	uc003hmh.2	-	8	1210_1211	c.1197_1198T>AT	c.(1195-1200)aaatacfs	p.K399fs	PRKG2_uc011ccf.1_5'UTR|PRKG2_uc011ccg.1_5'UTR|PRKG2_uc011cch.1_Frame_Shift_Ins_p.K399fs	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	399					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CCTTCAAGGTATTTTTGCAGCT	0.416													T	82065443	-	T	82065442	7	5	22	1	0	1	1	0	0	0	0	0	12523	1490	52	0	1131	0	PRKG2	4	82065442	Frame_Shift_Ins	INS	-	TCGA-BR-4366-01A-01D-1158-08	1818477	82065442	109088834	48	20476											
PRSS12	8492	broad.mit.edu	37	chr4	119252907	119252907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagatcacttctgcatcgGcatcatcccattggtcatca	7	13	5	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr4:119252907G>A	uc003ica.1	-	4	982	c.935C>T	c.(934-936)GCC>GTC	p.A312V		NM_003619	NP_003610	P56730	NETR_HUMAN	neurotrypsin precursor	312	SRCR 2.					membrane	scavenger receptor activity			skin(1)	1						TTCTGCATCGGCATCATCCCA	0.493													A	119252907	G	A	119252907	3	1	22	1	0	0	0	0	1	0	0	0	12615	1203	42	2	1732	2	PRSS12	4	119252907	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	37187465	119252907	71901369	49	20477											
CTNND2	1501	broad.mit.edu	37	chr5	11098707	11098707	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccagctccctgcagccaAgttctgcagggcgcctgccg	11	17	1	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr5:11098707A>C	uc003jfa.1	-	15	2762	c.2617T>G	c.(2617-2619)TTG>GTG	p.L873V	CTNND2_uc010itt.2_Missense_Mutation_p.L782V|CTNND2_uc011cmy.1_Missense_Mutation_p.L536V|CTNND2_uc011cmz.1_Missense_Mutation_p.L440V|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.L440V	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	873	ARM 7.				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						CCTGCAGCCAAGTTCTGCAGG	0.493													C	11098707	A	C	11098707	3	2	22	1	0	0	0	0	1	0	0	0	4020	69	3	5	1092	5	CTNND2	5	11098707	Missense_Mutation	SNP	A	TCGA-BR-4366-01A-01D-1158-08		11098707	169816553	50	20478											
RXFP3	51289	broad.mit.edu	37	chr5	33937955	33937955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgtgccaggtatacgcGttccctgtgagcgtgtgcct	12	12	0	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr5:33937955G>A	uc003jic.1	+	1	1467	c.1110G>A	c.(1108-1110)GCG>GCA	p.A370A		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	370	Helical; Name=7; (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						AGGTATACGCGTTCCCTGTGA	0.617													A	33937955	G	A	33937955	2	1	22	1	0	0	0	0	0	0	0	1	13761	1132	40	1		1	RXFP3	5	33937955	Silent	SNP	G	TCGA-BR-4366-01A-01D-1158-08	22839248	33937955	146977305	51	20479											
LIFR	3977	broad.mit.edu	37	chr5	38510603	38510603	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccaaatatgttatcttcGgttgtaaaaactacatttgt	6	6	1	0	rs61748202	byFrequency	TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr5:38510603G>A	uc010ive.1	-	7	1286	c.954C>T	c.(952-954)ACC>ACT	p.T318T	LIFR_uc003jli.2_Silent_p.T318T	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	318	Extracellular (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					TGTTATCTTCGGTTGTAAAAA	0.348			T	PLAG1	salivary adenoma								A	38510603	G	A	38510603	2	1	22	1	0	0	0	0	0	0	0	1	8780	1103	39	1		1	LIFR	5	38510603	Silent	SNP	G	TCGA-BR-4366-01A-01D-1158-08	4572648	38510603	142404657	52	20480											
FGF10	2255	broad.mit.edu	37	chr5	44388771	44388771	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggcacaatgtgtcagtAtccatttccacattgtactg	8	10	1	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr5:44388771A>C	uc003jog.1	-	1	14	c.14T>G	c.(13-15)ATA>AGA	p.I5R		NM_004465	NP_004456	O15520	FGF10_HUMAN	fibroblast growth factor 10 precursor	5					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			lung(3)	3	Lung NSC(6;1.12e-06)					ATGTGTCAGTATCCATTTCCA	0.517													C	44388771	A	C	44388771	3	2	22	1	0	0	0	0	1	0	0	0	5839	449	16	5	624	5	FGF10	5	44388771	Missense_Mutation	SNP	A	TCGA-BR-4366-01A-01D-1158-08	5878168	44388771	136526489	53	20481											
SNCAIP	9627	broad.mit.edu	37	chr5	121739511	121739511	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagtcacatcactcaagacGatcccagaactgtgccgaag	8	13	4	2	rs149915358	byFrequency	TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr5:121739511G>A	uc003ksw.1	+	3	287	c.81G>A	c.(79-81)ACG>ACA	p.T27T	SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.2_Silent_p.T27T|SNCAIP_uc003ksx.1_Silent_p.T74T|SNCAIP_uc003ksy.1_Missense_Mutation_p.R12Q|SNCAIP_uc003ksz.1_Missense_Mutation_p.R12Q|SNCAIP_uc010jcu.2_Missense_Mutation_p.R12Q|SNCAIP_uc011cwm.1_Missense_Mutation_p.R12Q|SNCAIP_uc003kta.1_Missense_Mutation_p.R10Q|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.R12Q|SNCAIP_uc010jcx.1_Silent_p.T27T	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	27					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CACTCAAGACGATCCCAGAAC	0.453													A	121739511	G	A	121739511	2	1	22	1	0	0	0	0	0	0	0	1	14841	1045	37	1		1	SNCAIP	5	121739511	Silent	SNP	G	TCGA-BR-4366-01A-01D-1158-08	77350740	121739511	59175749	54	20482											
PCDHA3	56145	broad.mit.edu	37	chr5	140180983	140180983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgcctgttccgggtggcGtccaaaagacacggggacct	14	14	0	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr5:140180983G>A	uc003lhf.2	+	1	201	c.201G>A	c.(199-201)GCG>GCA	p.A67A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.A67A	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	67	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGGTGGCGTCCAAAAGAC	0.632													A	140180983	G	A	140180983	2	1	22	1	0	0	0	0	0	0	0	1	11525	1132	40	1		1	PCDHA3	5	140180983	Silent	SNP	G	TCGA-BR-4366-01A-01D-1158-08	18441472	140180983	40734277	55	20483											
PCDHGA10	56106	broad.mit.edu	37	chr5	140794719	140794719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggccagccccctctctcCgccactgtcacgctcaccgt	7	22	3	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr5:140794719C>T	uc003lkl.1	+	1	1977	c.1977C>T	c.(1975-1977)TCC>TCT	p.S659S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.S659S|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	659	Cadherin 6.|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)			CCCCTCTCTCCGCCACTGTCA	0.672													T	140794719	C	T	140794719	2	4	22	1	0	0	0	0	0	0	0	1	11551	639	23	1		1	PCDHGA10	5	140794719	Silent	SNP	C	TCGA-BR-4366-01A-01D-1158-08	613736	140794719	40120541	56	20484											
PCDHGB7	56099	broad.mit.edu	37	chr5	140799123	140799123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgcgggtgctgtaccctgCgctgggtcccgacggctccg	15	16	0	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr5:140799123C>T	uc003lkn.1	+	1	1842	c.1697C>T	c.(1696-1698)GCG>GTG	p.A566V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.A566V|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	566	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTACCCTGCGCTGGGTCCC	0.726													T	140799123	C	T	140799123	3	4	22	1	0	0	0	0	1	0	0	0	11568	768	27	1	1699	1	PCDHGB7	5	140799123	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	4404	140799123	40116137	57	20485											
TNIP1	10318	broad.mit.edu	37	chr5	150422226	150422226	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agccagcttctgacgcagctCagtgatctgggttcagaggc	13	11	4	3			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr5:150422226C>A	uc003ltf.2	-	11	1598	c.1009G>T	c.(1009-1011)GAG>TAG	p.E337*	TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_Nonsense_Mutation_p.E337*|TNIP1_uc010jhn.2_Nonsense_Mutation_p.E337*|TNIP1_uc011dco.1_Nonsense_Mutation_p.E337*|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_Nonsense_Mutation_p.E337*|TNIP1_uc003ltg.2_Nonsense_Mutation_p.E284*|TNIP1_uc003ltj.2_Nonsense_Mutation_p.E337*|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_Nonsense_Mutation_p.E284*|TNIP1_uc010jhp.1_Nonsense_Mutation_p.E284*|TNIP1_uc010jhr.1_Nonsense_Mutation_p.E337*|TNIP1_uc003ltk.2_Nonsense_Mutation_p.E337*	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	337	Potential.|Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACGCAGCTCAGTGATCTGG	0.612													A	150422226	C	A	150422226	4	1	22	1	0	0	0	0	0	1	0	0	16311	835	29	5	933	5	TNIP1	5	150422226	Nonsense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	9623103	150422226	30493034	58	20486											
SLC36A2	153201	broad.mit.edu	37	chr5	150723081	150723081	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctcacctcttacagaAgcgctgggcacacttgacca	7	14	2	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr5:150723081A>G	uc003lty.2	-	3	464	c.334T>C	c.(334-336)TTC>CTC	p.F112L	GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_5'UTR|SLC36A2_uc010jhv.2_Missense_Mutation_p.F112L|SLC36A2_uc011dct.1_Missense_Mutation_p.F112L	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	solute carrier family 36, member 2	112	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCTTACAGAAGCGCTGGGCA	0.512													G	150723081	A	G	150723081	3	3	22	1	0	0	0	0	1	0	0	0	14594	72	3	3	1149	3	SLC36A2	5	150723081	Missense_Mutation	SNP	A	TCGA-BR-4366-01A-01D-1158-08	300855	150723081	30192179	59	20487											
EBF1	1879	broad.mit.edu	37	chr5	158204508	158204508	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cacaacaccagggatgtgccGaggaggggtctgcacacgga	15	11	1	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr5:158204508G>T	uc010jip.2	-	10	1251	c.949C>A	c.(949-951)CGG>AGG	p.R317R	EBF1_uc011ddw.1_Silent_p.R185R|EBF1_uc011ddx.1_Silent_p.R318R|EBF1_uc003lxl.3_Silent_p.R286R	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	317	IPT/TIG.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGATGTGCCGAGGAGGGGTC	0.468			T	HMGA2	lipoma								T	158204508	G	T	158204508	2	4	22	1	0	0	0	0	0	0	0	1	4880	1057	37	5		5	EBF1	5	158204508	Silent	SNP	G	TCGA-BR-4366-01A-01D-1158-08	7481427	158204508	22710752	60	20488											
SQSTM1	8878	broad.mit.edu	37	chr5	179263587	179263587	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattcaaagcatcccccgccGttgtgaccacttttgcccac	6	16	1	1	rs11548636		TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr5:179263587G>A	uc003mkw.3	+	8	1412	c.1317G>A	c.(1315-1317)CCG>CCA	p.P439P	SQSTM1_uc011dgr.1_Silent_p.P355P|SQSTM1_uc011dgs.1_Silent_p.P355P|SQSTM1_uc003mkv.3_Missense_Mutation_p.R356H|SQSTM1_uc003mkx.2_Silent_p.P355P	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1 isoform 1	439	Interaction with NTRK1 (By similarity).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCCCCCGCCGTTGTGACCAC	0.542									Paget_Disease_of_Bone				A	179263587	G	A	179263587	2	1	22	1	0	0	0	0	0	0	0	1	15129	1132	40	1		1	SQSTM1	5	179263587	Silent	SNP	G	TCGA-BR-4366-01A-01D-1158-08	21059079	179263587	1651673	61	20489											
RIMS1	22999	broad.mit.edu	37	chr6	72955550	72955550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattcctgagagctcccaccCtccactggagtccagtgagt	10	14	0	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr6:72955550C>T	uc003pga.2	+	11	2191	c.2114C>T	c.(2113-2115)CCT>CTT	p.P705L	RIMS1_uc011dyb.1_Missense_Mutation_p.P331L|RIMS1_uc003pgc.2_Missense_Mutation_p.P331L|RIMS1_uc010kaq.2_Missense_Mutation_p.P179L|RIMS1_uc011dyc.1_Missense_Mutation_p.P179L|RIMS1_uc010kar.2_Missense_Mutation_p.P98L|RIMS1_uc011dyd.1_Missense_Mutation_p.P164L|RIMS1_uc003pgb.3_Missense_Mutation_p.P331L|RIMS1_uc010kas.1_Missense_Mutation_p.P164L	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	705					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGCTCCCACCCTCCACTGGAG	0.363													T	72955550	C	T	72955550	3	4	22	1	0	0	0	0	1	0	0	0	13367	681	24	4	2319	4	RIMS1	6	72955550	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08		72955550	98159517	62	20490											
C6orf186	728464	broad.mit.edu	37	chr6	110620262	110620262	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgctgactctccagaaTgtgagctgacttgacactag	11	9	1	5			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr6:110620262T>C	uc010kdu.1	-	4	649	c.649A>G	c.(649-651)ATT>GTT	p.I217V	C6orf186_uc003pub.2_Missense_Mutation_p.I20V	NM_001123364	NP_001116836	Q5JXM2	CF186_HUMAN	chromosome 6 open reading frame 186 precursor	217						extracellular region					0						CTCTCCAGAATGTGAGCTGAC	0.478													C	110620262	T	C	110620262	3	2	22	1	0	0	0	0	1	0	0	0	2347	1464	51	3	459	3	C6orf186	6	110620262	Missense_Mutation	SNP	T	TCGA-BR-4366-01A-01D-1158-08	37664712	110620262	60494805	63	20491											
PEX3	8504	broad.mit.edu	37	chr6	143792193	143792193	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttggtggatatatttacctgGataatgcagcagttggcaaa	11	5	0	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr6:143792193G>T	uc003qjl.2	+	5	689	c.427G>T	c.(427-429)GAT>TAT	p.D143Y	PEX3_uc011edx.1_Missense_Mutation_p.D143Y	NM_003630	NP_003621	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	143	Cytoplasmic (Potential).				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TATTTACCTGGATAATGCAGC	0.373													T	143792193	G	T	143792193	3	4	22	1	0	0	0	0	1	0	0	0	11747	1174	41	5	445	5	PEX3	6	143792193	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	33171931	143792193	27322874	64	20492											
UST	10090	broad.mit.edu	37	chr6	149394999	149394999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttggaaacatgactgtgaCggtgaagaagactgtcccct	12	9	0	5			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr6:149394999C>T	uc003qmg.2	+	8	1264	c.968C>T	c.(967-969)ACG>ATG	p.T323M		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	323	Lumenal (Potential).				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ATGACTGTGACGGTGAAGAAG	0.537													T	149394999	C	T	149394999	3	4	22	1	0	0	0	0	1	0	0	0	17090	536	19	1	998	1	UST	6	149394999	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	5602806	149394999	21720068	65	20493											
KATNA1	11104	broad.mit.edu	37	chr6	149944303	149944303	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacagctttccctctgtcaTtgtgaacattctgtgcagat	8	10	3	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr6:149944303T>C	uc003qmr.1	-	3	482	c.437A>G	c.(436-438)AAT>AGT	p.N146S	KATNA1_uc003qms.2_Missense_Mutation_p.N146S|KATNA1_uc003qmt.2_Missense_Mutation_p.N146S|KATNA1_uc011eed.1_Missense_Mutation_p.N146S	NM_007044	NP_008975	O75449	KTNA1_HUMAN	katanin p60 subunit A 1	146	Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			skin(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		CCCTCTGTCATTGTGAACATT	0.368													C	149944303	T	C	149944303	3	2	22	1	0	0	0	0	1	0	0	0	7984	1493	52	3	1070	3	KATNA1	6	149944303	Missense_Mutation	SNP	T	TCGA-BR-4366-01A-01D-1158-08	549304	149944303	21170764	66	20494											
ARID1B	57492	broad.mit.edu	37	chr6	157527345	157527345	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcgagtactttagaaaatgCctgattgacatttttggaat	9	5	0	3			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr6:157527345C>A	uc003qqn.2	+	20	5168	c.5016C>A	c.(5014-5016)TGC>TGA	p.C1672*	ARID1B_uc003qqo.2_Nonsense_Mutation_p.C1632*|ARID1B_uc003qqp.2_Nonsense_Mutation_p.C1619*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1677					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TTAGAAAATGCCTGATTGACA	0.433													A	157527345	C	A	157527345	4	1	22	1	0	0	0	0	0	1	0	0	914	747	26	5	5148	5	ARID1B	6	157527345	Nonsense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	7583042	157527345	13587722	67	20495											
TAX1BP1	8887	broad.mit.edu	37	chr7	27832693	27832693	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttctttctaggacaagacTgatacactggaacacgaact	8	9	2	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr7:27832693T>C	uc003szl.2	+	10	1430	c.1272T>C	c.(1270-1272)ACT>ACC	p.T424T	TAX1BP1_uc011jzo.1_Silent_p.T424T|TAX1BP1_uc003szk.2_Silent_p.T424T|TAX1BP1_uc011jzp.1_Silent_p.T267T	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	424	Potential.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)	1			GBM - Glioblastoma multiforme(3;0.0823)			AGGACAAGACTGATACACTGG	0.323													C	27832693	T	C	27832693	2	2	22	1	0	0	0	0	0	0	0	1	15591	1567	55	3		3	TAX1BP1	7	27832693	Silent	SNP	T	TCGA-BR-4366-01A-01D-1158-08		27832693	131305970	68	20496											
IKZF1	10320	broad.mit.edu	37	chr7	50468108	50468108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgagaactcgcaggacgCgctccgcgtggtcagcacca	12	16	1	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr7:50468108C>T	uc003tow.3	+	9	1511	c.1343C>T	c.(1342-1344)GCG>GTG	p.A448V	IKZF1_uc003tox.3_Missense_Mutation_p.A406V|IKZF1_uc003toy.3_Missense_Mutation_p.A406V|IKZF1_uc011kck.1_Missense_Mutation_p.A361V|IKZF1_uc003toz.3_Missense_Mutation_p.A418V|IKZF1_uc010kyx.2_Missense_Mutation_p.A188V|IKZF1_uc003tpa.3_Missense_Mutation_p.A190V	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	448					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding			haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCGCAGGACGCGCTCCGCGTG	0.652			D		ALL								T	50468108	C	T	50468108	3	4	22	1	0	0	0	0	1	0	0	0	7614	768	27	1	1369	1	IKZF1	7	50468108	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	22635415	50468108	108670555	69	20497											
CCDC132	55610	broad.mit.edu	37	chr7	92935138	92935138	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctccttttttaacatctAggaatttaaattcatggaac	6	7	2	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr7:92935138A>G	uc003umo.2	+	18	1581	c.1453_splice	c.e18-2	p.E485_splice	CCDC132_uc003umq.2_Splice_Site|CCDC132_uc003ump.2_Splice_Site_p.E455_splice|CCDC132_uc003umr.2_Splice_Site|CCDC132_uc011khz.1_Splice_Site_p.E205_splice	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132 isoform a												0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTAACATCTAGGAATTTAAA	0.368													G	92935138	A	G	92935138	5	3	22	1	0	0	0	0	0	0	1	0	2767	434	15	3	1563	3	CCDC132	7	92935138	Splice_Site	SNP	A	TCGA-BR-4366-01A-01D-1158-08	42467030	92935138	66203525	70	20498											
COL1A2	1278	broad.mit.edu	37	chr7	94059632	94059632	+	Missense_Mutation	SNP	A	A	C													atcacgcctgcccttccttgAtattgcacctttggacatcg							TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr7:94059632A>C	uc003ung.1	+	52	4499	c.4028A>C	c.(4027-4029)GAT>GCT	p.D1343A	COL1A2_uc011kib.1_Missense_Mutation_p.D195A	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1343	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCTTCCTTGATATTGCACCT	0.363										HNSCC(75;0.22)			C	94059632	A	C	94059632	3	2	22	1	0	0	0	0	1	0	0	0	3678	333	12	5	4234	5	COL1A2	7	94059632	Missense_Mutation	SNP	A	TCGA-BR-4366-01A-01D-1158-08	1124494	94059632	65079031	71	20499	71	2									
COL1A2	1278	broad.mit.edu	37	chr7	94059634	94059634	+	Missense_Mutation	SNP	A	A	T													cacgcctgcccttccttgatAttgcacctttggacatcggt							TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr7:94059634A>T	uc003ung.1	+	52	4501	c.4030A>T	c.(4030-4032)ATT>TTT	p.I1344F	COL1A2_uc011kib.1_Missense_Mutation_p.I196F	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1344	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTTCCTTGATATTGCACCTTT	0.363										HNSCC(75;0.22)			T	94059634	A	T	94059634	3	4	22	1	0	0	0	0	1	0	0	0	3678	449	16	5	4236	5	COL1A2	7	94059634	Missense_Mutation	SNP	A	TCGA-BR-4366-01A-01D-1158-08	2	94059634	65079029	72	20500	71	2									
CTTNBP2	83992	broad.mit.edu	37	chr7	117431934	117431934	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggattcgtgggtttagacctGgatgcaaagaggtgttggca	16	5	0	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr7:117431934G>C	uc003vjf.2	-	4	1408	c.1316C>G	c.(1315-1317)CCA>CGA	p.P439R		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	439	Pro-rich.									ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GTTTAGACCTGGATGCAAAGA	0.498													C	117431934	G	C	117431934	3	2	22	1	0	0	0	0	1	0	0	0	4045	1348	47	5	3755	5	CTTNBP2	7	117431934	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	23372300	117431934	41706729	73	20501											
ZNF800	168850	broad.mit.edu	37	chr7	127014104	127014104	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatttgttccctttaattcaTtctgtggagaatgggtaatg	10	5	2	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr7:127014104T>G	uc003vlx.1	-	5	1549	c.1286A>C	c.(1285-1287)AAT>ACT	p.N429T	ZNF800_uc003vlw.1_Missense_Mutation_p.N332T|ZNF800_uc003vly.1_Missense_Mutation_p.N429T|ZNF800_uc010lla.2_Missense_Mutation_p.N429T	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	zinc finger protein 800	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTTTAATTCATTCTGTGGAGA	0.368													G	127014104	T	G	127014104	3	3	22	1	0	0	0	0	1	0	0	0	18166	1493	52	5	716	5	ZNF800	7	127014104	Missense_Mutation	SNP	T	TCGA-BR-4366-01A-01D-1158-08	9582170	127014104	32124559	74	20502											
CHRM2	1129	broad.mit.edu	37	chr7	136700630	136700630	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgactcatgtaccccaActaataccaccgtggaggta	8	11	1	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr7:136700630A>G	uc003vtf.1	+	4	1641	c.1018A>G	c.(1018-1020)ACT>GCT	p.T340A	CHRM2_uc003vtg.1_Missense_Mutation_p.T340A|CHRM2_uc003vtj.1_Missense_Mutation_p.T340A|CHRM2_uc003vtk.1_Missense_Mutation_p.T340A|CHRM2_uc003vtl.1_Missense_Mutation_p.T340A|CHRM2_uc003vtm.1_Missense_Mutation_p.T340A|CHRM2_uc003vti.1_Missense_Mutation_p.T340A|CHRM2_uc003vto.1_Missense_Mutation_p.T340A|CHRM2_uc003vtn.1_Missense_Mutation_p.T340A|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	340	Cytoplasmic (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ATGTACCCCAACTAATACCAC	0.473													G	136700630	A	G	136700630	3	3	22	1	0	0	0	0	1	0	0	0	3377	43	2	3	1020	3	CHRM2	7	136700630	Missense_Mutation	SNP	A	TCGA-BR-4366-01A-01D-1158-08	9686526	136700630	22438033	75	20503											
CNTNAP2	26047	broad.mit.edu	37	chr7	147869380	147869380	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgggctgcatccgctccttGaggatgaatggggtgacact	14	10	0	3			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr7:147869380G>C	uc003weu.1	+	18	3336	c.2820G>C	c.(2818-2820)TTG>TTC	p.L940F		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	940	Laminin G-like 3.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCCGCTCCTTGAGGATGAATG	0.542										HNSCC(39;0.1)			C	147869380	G	C	147869380	3	2	22	1	0	0	0	0	1	0	0	0	3647	1281	45	5	2890	5	CNTNAP2	7	147869380	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	11168750	147869380	11269283	76	20504											
TMUB1	83590	broad.mit.edu	37	chr7	150779627	150779627	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggacggtcacctcatcAcccaccccttcaatcagggt	7	15	5	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr7:150779627A>G	uc003wjb.2	-	1	139	c.24T>C	c.(22-24)GGT>GGC	p.G8G	FASTK_uc003wiw.1_5'Flank|FASTK_uc003wix.1_5'Flank|FASTK_uc003wiy.1_5'Flank|FASTK_uc003wiz.1_5'Flank|FASTK_uc003wja.1_5'Flank|TMUB1_uc003wjc.2_Silent_p.G8G|TMUB1_uc003wjd.2_Silent_p.G8G	NM_031434	NP_113622	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain	8						cytoplasm|integral to membrane|nucleus					0			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCACCTCATCACCCACCCCTT	0.682													G	150779627	A	G	150779627	2	3	22	1	0	0	0	0	0	0	0	1	16261	146	6	3		3	TMUB1	7	150779627	Silent	SNP	A	TCGA-BR-4366-01A-01D-1158-08	2910247	150779627	8359036	77	20505											
DEFB136	613210	broad.mit.edu	37	chr8	11831582	11831582	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aacatacggctttctggctaGtgcaggtgcgaactttgact	11	9	1	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr8:11831582G>C	uc011kxm.1	-	2	101	c.101C>G	c.(100-102)ACT>AGT	p.T34S		NM_001033018	NP_001028190	Q30KP8	DB136_HUMAN	beta-defensin 136 precursor	34					defense response to bacterium	extracellular region					0			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		TTTCTGGCTAGTGCAGGTGCG	0.453													C	11831582	G	C	11831582	3	2	22	1	0	0	0	0	1	0	0	0	4420	1029	36	5	137	5	DEFB136	8	11831582	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08		11831582	134532440	78	20506											
ATP6V1B2	526	broad.mit.edu	37	chr8	20067922	20067922	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagtttactggggatattctCcgaacaccggtgtctgagga	13	8	2	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr8:20067922C>T	uc003wzp.2	+	4	571	c.357C>T	c.(355-357)CTC>CTT	p.L119L		NM_001693	NP_001684	P21281	VATB2_HUMAN	vacuolar H+ATPase B2	119					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		GGGATATTCTCCGAACACCGG	0.358													T	20067922	C	T	20067922	2	4	22	1	0	0	0	0	0	0	0	1	1179	842	30	4		4	ATP6V1B2	8	20067922	Silent	SNP	C	TCGA-BR-4366-01A-01D-1158-08	8236340	20067922	126296100	79	20507											
SCARA3	51435	broad.mit.edu	37	chr8	27528492	27528492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgttggcggcagaggccCgaaaggagaccccggcagct	16	13	0	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr8:27528492C>T	uc003xga.1	+	6	1586	c.1445C>T	c.(1444-1446)CCG>CTG	p.P482L	SCARA3_uc003xgb.1_Intron	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	482	Collagen-like 1.|Extracellular (Potential).				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			skin(2)|ovary(1)|breast(1)	4		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GGCAGAGGCCCGAAAGGAGAC	0.662													T	27528492	C	T	27528492	3	4	22	1	0	0	0	0	1	0	0	0	13879	652	23	1	1467	1	SCARA3	8	27528492	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	7460570	27528492	118835530	80	20508											
SFRP1	6422	broad.mit.edu	37	chr8	41122917	41122917	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcttcaggtccttcttcttGatgggccccaacttcagggg	10	12	5	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr8:41122917G>C	uc003xnt.2	-	3	1016	c.714C>G	c.(712-714)ATC>ATG	p.I238M		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1 precursor	238	NTR.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CCTTCTTCTTGATGGGCCCCA	0.488													C	41122917	G	C	41122917	3	2	22	1	0	0	0	0	1	0	0	0	14161	1280	45	5	234	5	SFRP1	8	41122917	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	13594425	41122917	105241105	81	20509											
CSPP1	79848	broad.mit.edu	37	chr8	68084687	68084687	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccatggatatatttgatatGgctagacatcggttgcaagc	10	8	0	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr8:68084687G>C	uc003xxi.2	+	25	2986	c.2955G>C	c.(2953-2955)ATG>ATC	p.M985I	CSPP1_uc003xxj.2_Missense_Mutation_p.M950I|CSPP1_uc003xxk.2_Missense_Mutation_p.M605I|CSPP1_uc010lyw.2_Missense_Mutation_p.M45I	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	985						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TATTTGATATGGCTAGACATC	0.378													C	68084687	G	C	68084687	3	2	22	1	0	0	0	0	1	0	0	0	3962	1348	47	5	3053	5	CSPP1	8	68084687	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	26961770	68084687	78279335	82	20510											
STAU2	27067	broad.mit.edu	37	chr8	74516095	74516095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttggccatattctggtcCggcctaaaaattaatttaag	7	10	1	0	rs142831475		TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr8:74516095C>T	uc003xzm.2	-	10	1131	c.895G>A	c.(895-897)GGA>AGA	p.G299R	STAU2_uc011lfg.1_Missense_Mutation_p.G127R|STAU2_uc003xzn.2_Missense_Mutation_p.G267R|STAU2_uc011lfh.1_Missense_Mutation_p.G195R|STAU2_uc003xzo.2_Missense_Mutation_p.G299R|STAU2_uc003xzp.2_Missense_Mutation_p.G267R|STAU2_uc011lfi.1_Missense_Mutation_p.G261R|STAU2_uc003xzq.2_Missense_Mutation_p.G79R|STAU2_uc010lzk.2_Missense_Mutation_p.G267R|STAU2_uc010lzl.1_Missense_Mutation_p.G127R	NM_014393	NP_055208	Q9NUL3	STAU2_HUMAN	staufen homolog 2 isoform e	299					transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding				0	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TATTCTGGTCCGGCCTAAAAA	0.418													T	74516095	C	T	74516095	3	4	22	1	0	0	0	0	1	0	0	0	15272	661	23	1	965	1	STAU2	8	74516095	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	6431408	74516095	71847927	83	20511											
CNBD1	168975	broad.mit.edu	37	chr8	88365898	88365898	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgtttatatggggaaacTtaaggagaaggagtcctttg	12	4	0	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr8:88365898T>C	uc003ydy.2	+	10	1235	c.1187T>C	c.(1186-1188)CTT>CCT	p.L396P		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	396	cNMP.									ovary(3)	3						ATGGGGAAACTTAAGGAGAAG	0.323													C	88365898	T	C	88365898	3	2	22	1	0	0	0	0	1	0	0	0	3591	1609	56	3	1225	3	CNBD1	8	88365898	Missense_Mutation	SNP	T	TCGA-BR-4366-01A-01D-1158-08	13849803	88365898	57998124	84	20512											
DCAF13	25879	broad.mit.edu	37	chr8	104427572	104427572	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctccgcgagtcacgtgacTggaagtagtctgggaaaagc	14	10	2	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr8:104427572T>G	uc003yln.2	+	1	631	c.354T>G	c.(352-354)ACT>ACG	p.T118T	SLC25A32_uc003yll.2_5'Flank|SLC25A32_uc011lhr.1_5'Flank|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	Error:Variant_position_missing_in_Q9NV06_after_alignment					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						GTCACGTGACTGGAAGTAGTC	0.637													G	104427572	T	G	104427572	2	3	22	1	0	0	0	0	0	0	0	1	4266	1567	55	5		5	DCAF13	8	104427572	Silent	SNP	T	TCGA-BR-4366-01A-01D-1158-08	16061674	104427572	41936450	85	20513											
TG	7038	broad.mit.edu	37	chr8	134146930	134146930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtttcagatggagccaaGggcgggcagtcagcagagag	16	8	3	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr8:134146930G>A	uc003ytw.2	+	48	8240	c.8199G>A	c.(8197-8199)AAG>AAA	p.K2733K	TG_uc010mdw.2_Silent_p.K1492K|TG_uc011ljb.1_Silent_p.K1102K|TG_uc011ljc.1_Silent_p.K866K	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2733					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATGGAGCCAAGGGCGGGCAGT	0.547													A	134146930	G	A	134146930	2	1	22	1	0	0	0	0	0	0	0	1	15810	991	35	4		4	TG	8	134146930	Silent	SNP	G	TCGA-BR-4366-01A-01D-1158-08	29719358	134146930	12217092	86	20514											
FAM135B	51059	broad.mit.edu	37	chr8	139164785	139164785	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctccctcagggtagaacTtagtggatcacagggctcag	14	10	3	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr8:139164785T>G	uc003yuy.2	-	13	2104	c.1933A>C	c.(1933-1935)AGT>CGT	p.S645R	FAM135B_uc003yux.2_Missense_Mutation_p.S546R|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.S207R|FAM135B_uc003yvb.2_Missense_Mutation_p.S207R	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	645										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGGGTAGAACTTAGTGGATCA	0.488										HNSCC(54;0.14)			G	139164785	T	G	139164785	3	3	22	1	0	0	0	0	1	0	0	0	5449	1609	56	5	2319	5	FAM135B	8	139164785	Missense_Mutation	SNP	T	TCGA-BR-4366-01A-01D-1158-08	5017855	139164785	7199237	87	20515											
AK3	50808	broad.mit.edu	37	chr9	4741007	4741007	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcagctcgaagtgtgtagtGatgcgcgacgacacggtgcc	14	10	1	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr9:4741007G>A	uc003ziq.1	-	1	221	c.81C>T	c.(79-81)ATC>ATT	p.I27I	AK3_uc011lma.1_Silent_p.I27I|AK3_uc003zir.1_Intron	NM_016282	NP_057366	Q9UIJ7	KAD3_HUMAN	adenylate kinase 3	27					blood coagulation	mitochondrial matrix	ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity			ovary(2)	2	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)		AGTGTGTAGTGATGCGCGACG	0.721													A	4741007	G	A	4741007	2	1	22	1	0	0	0	0	0	0	0	1	441	1280	45	4		4	AK3	9	4741007	Silent	SNP	G	TCGA-BR-4366-01A-01D-1158-08		4741007	136472424	88	20516											
GLDC	2731	broad.mit.edu	37	chr9	6610217	6610217	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacagctgcagtgcctctgCggctgcagtcccctcatcca	10	17	2	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr9:6610217C>A	uc003zkc.2	-	4	803	c.610G>T	c.(610-612)GCA>TCA	p.A204S		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	204					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AGTGCCTCTGCGGCTGCAGTC	0.403													A	6610217	C	A	6610217	3	1	22	1	0	0	0	0	1	0	0	0	6433	768	27	5	2540	5	GLDC	9	6610217	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	1869210	6610217	134603214	89	20517											
CDKN2A	1029	broad.mit.edu	37	chr9	21971119	21971119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcagcgtcgtgcacgggtCgggtgagagtggcggggtcg	23	8	0	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr9:21971119C>T	uc003zpk.2	-	2	451	c.239G>A	c.(238-240)CGA>CAA	p.R80Q	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.P135P	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	80	ANK 3.		R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.R80*(85)|p.?(13)|p.R80Q(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTGCACGGGTCGGGTGAGAGT	0.731		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			T	21971119	C	T	21971119	3	4	22	1	0	0	0	0	1	0	0	0	3161	884	31	1	239	1	CDKN2A	9	21971119	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	15360902	21971119	119242312	90	20518											
NOL6	65083	broad.mit.edu	37	chr9	33466322	33466322	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccggtcatgggctccacGtaggccggacagggcttatc	13	12	1	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr9:33466322G>A	uc003zsz.2	-	17	2294	c.2193C>T	c.(2191-2193)TAC>TAT	p.Y731Y	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Silent_p.Y728Y|NOL6_uc011lob.1_Silent_p.Y679Y|NOL6_uc003ztb.1_Silent_p.Y731Y	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	731					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TGGGCTCCACGTAGGCCGGAC	0.607											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	33466322	G	A	33466322	2	1	22	1	0	0	0	0	0	0	0	1	10525	1140	40	1		1	NOL6	9	33466322	Silent	SNP	G	TCGA-BR-4366-01A-01D-1158-08	11495203	33466322	107747109	91	20519											
TLN1	7094	broad.mit.edu	37	chr9	35700205	35700205	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccttgcaagcccgaagcaTatctgcaatagcacggcggc	10	13	1	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr9:35700205T>C	uc003zxt.2	-	49	6997	c.6643A>G	c.(6643-6645)ATG>GTG	p.M2215V		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	2215					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCCCGAAGCATATCTGCAATA	0.547													C	35700205	T	C	35700205	3	2	22	1	0	0	0	0	1	0	0	0	15944	1406	49	3	1018	3	TLN1	9	35700205	Missense_Mutation	SNP	T	TCGA-BR-4366-01A-01D-1158-08	2233883	35700205	105513226	92	20520											
SEMA4D	10507	broad.mit.edu	37	chr9	91993768	91993768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttgctcggtctcatagcCggtgtccagggctggcttgg	15	11	2	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr9:91993768C>T	uc004aqo.1	-	18	3012	c.2440G>A	c.(2440-2442)GGC>AGC	p.G814S	SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.G812S	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	814	Cytoplasmic (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						GTCTCATAGCCGGTGTCCAGG	0.577													T	91993768	C	T	91993768	3	4	22	1	0	0	0	0	1	0	0	0	14034	652	23	1	722	1	SEMA4D	9	91993768	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	56293563	91993768	49219663	93	20521											
MEGF9	1955	broad.mit.edu	37	chr9	123370282	123370282	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacattcaggttccaattcaCtcgattctaaaagagagaat	6	9	3	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr9:123370282C>G	uc004bkj.1	-	7	1205	c.1205G>C	c.(1204-1206)AGT>ACT	p.S402T	MEGF9_uc011lyb.1_Missense_Mutation_p.S357T	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	365	Laminin EGF-like 4.|Extracellular (Potential).					integral to membrane	calcium ion binding				0						TTCCAATTCACTCGATTCTAA	0.328													G	123370282	C	G	123370282	3	3	22	1	0	0	0	0	1	0	0	0	9464	565	20	5	722	5	MEGF9	9	123370282	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	31376514	123370282	17843149	94	20522											
ARMC3	219681	broad.mit.edu	37	chr10	23321810	23321810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatgtagcagaaaaaatggGtggtaagattccaaaagaga	12	3	0	3			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr10:23321810G>A	uc001irm.3	+	18	2350	c.2267G>A	c.(2266-2268)GGT>GAT	p.G756D	ARMC3_uc010qcv.1_Missense_Mutation_p.G749D|ARMC3_uc010qcw.1_Missense_Mutation_p.G493D	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	756							binding				0						GAAAAAATGGGTGGTAAGATT	0.338													A	23321810	G	A	23321810	3	1	22	1	0	0	0	0	1	0	0	0	952	1261	44	4	2333	4	ARMC3	10	23321810	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08		23321810	112212937	95	20523											
ENTPD7	57089	broad.mit.edu	37	chr10	101421366	101421366	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	attggagtgcttcattaccaCgagataggcaatacgaaagg	11	7	1	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr10:101421366C>G	uc001kqa.3	+	3	350	c.172C>G	c.(172-174)CGA>GGA	p.R58G	ENTPD7_uc009xwl.2_Missense_Mutation_p.R60G|SLC25A28_uc001kpy.2_5'Flank	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	58	Vesicular (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TTCATTACCACGAGATAGGCA	0.403													G	101421366	C	G	101421366	3	3	22	1	0	0	0	0	1	0	0	0	5144	528	19	5	178	5	ENTPD7	10	101421366	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	78099556	101421366	34113381	96	20524											
ACTR1A	10121	broad.mit.edu	37	chr10	104241914	104241914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagagcaactcaggggcccGgaatcgggaaggaccaatct	14	10	2	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr10:104241914G>A	uc001kvv.2	-	8	877	c.769C>T	c.(769-771)CGG>TGG	p.R257W	ACTR1A_uc010qqn.1_Missense_Mutation_p.R183W|ACTR1A_uc010qqo.1_Missense_Mutation_p.R210W	NM_005736	NP_005727	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A,	257					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)	1		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TCAGGGGCCCGGAATCGGGAA	0.582													A	104241914	G	A	104241914	3	1	22	1	0	0	0	0	1	0	0	0	209	1115	39	1	377	1	ACTR1A	10	104241914	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	2820548	104241914	31292833	97	20525											
PLEKHA1	59338	broad.mit.edu	37	chr10	124159876	124159876	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taggttagcgatgctactaaGctaaggccaaaggcggagtt	13	7	0	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr10:124159876G>C	uc001lge.1	+	4	339	c.216G>C	c.(214-216)AAG>AAC	p.K72N	PLEKHA1_uc001lgf.1_Missense_Mutation_p.K72N|PLEKHA1_uc001lgg.1_Missense_Mutation_p.K72N|PLEKHA1_uc001lgh.2_Missense_Mutation_p.K72N	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A	72	PH 1.				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			kidney(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATGCTACTAAGCTAAGGCCAA	0.333													C	124159876	G	C	124159876	3	2	22	1	0	0	0	0	1	0	0	0	12055	962	34	5	226	5	PLEKHA1	10	124159876	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	19917962	124159876	11374871	98	20526											
GPR26	2849	broad.mit.edu	37	chr10	125434364	125434364	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgtctggaggagcagaaGcggaggcgacagcgagccac	17	11	1	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr10:125434364G>A	uc001lhh.2	+	2	752	c.699G>A	c.(697-699)AAG>AAA	p.K233K		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	233	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				AGGAGCAGAAGCGGAGGCGAC	0.562													A	125434364	G	A	125434364	2	1	22	1	0	0	0	0	0	0	0	1	6684	962	34	2		2	GPR26	10	125434364	Silent	SNP	G	TCGA-BR-4366-01A-01D-1158-08	1274488	125434364	10100383	99	20527											
ADAM8	101	broad.mit.edu	37	chr10	135085440	135085440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggtacaggccacgcccaCggggttcttgctgtggtcct	13	13	1	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr10:135085440C>T	uc010qva.1	-	10	910	c.859G>A	c.(859-861)GTG>ATG	p.V287M	ADAM8_uc010quz.1_Missense_Mutation_p.V326M|ADAM8_uc009ybi.2_Missense_Mutation_p.V326M|ADAM8_uc010qvb.1_3'UTR			P78325	ADAM8_HUMAN	SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);	287					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	p.N287N(1)		large_intestine(2)|central_nervous_system(1)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		GCCACGCCCACGGGGTTCTTG	0.647													T	135085440	C	T	135085440	3	4	22	1	0	0	0	0	1	0	0	0	252	536	19	1	1468	1	ADAM8	10	135085440	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	9651076	135085440	449307	100	20528											
QSER1	79832	broad.mit.edu	37	chr11	32975670	32975670	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaagcggaggagaaggccAatacagagagcgtgatgaat	15	5	0	5			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr11:32975670A>G	uc001mty.2	+	5	4325	c.4058A>G	c.(4057-4059)CAA>CGA	p.Q1353R	QSER1_uc001mtz.1_Missense_Mutation_p.Q1114R|QSER1_uc001mua.2_Missense_Mutation_p.Q858R	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1353										ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					GGAGAAGGCCAATACAGAGAG	0.428													G	32975670	A	G	32975670	3	3	22	1	0	0	0	0	1	0	0	0	12882	130	5	3	4068	3	QSER1	11	32975670	Missense_Mutation	SNP	A	TCGA-BR-4366-01A-01D-1158-08		32975670	102030846	101	20529											
CAPRIN1	4076	broad.mit.edu	37	chr11	34107866	34107866	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaggattcaatgctggaTtttgaaaatcagacacttga	9	6	2	3			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr11:34107866T>C	uc001mvh.1	+	11	1326	c.1137T>C	c.(1135-1137)GAT>GAC	p.D379D	CAPRIN1_uc001mvg.2_Silent_p.D379D|CAPRIN1_uc001mvi.2_Silent_p.D379D|CAPRIN1_uc001mvj.1_Silent_p.D298D	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	membrane component chromosome 11 surface marker	379	G3BP1-binding.				negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				CAATGCTGGATTTTGAAAATC	0.383													C	34107866	T	C	34107866	2	2	22	1	0	0	0	0	0	0	0	1	2635	1490	52	3		3	CAPRIN1	11	34107866	Silent	SNP	T	TCGA-BR-4366-01A-01D-1158-08	1132196	34107866	100898650	102	20530											
HRASLS5	117245	broad.mit.edu	37	chr11	63233831	63233831	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atggaagtaatgctgcccacCtcaaactcctcacctggaga	8	13	2	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr11:63233831C>G	uc001nwy.2	-	5	672	c.498G>C	c.(496-498)GAG>GAC	p.E166D	HRASLS5_uc001nwz.2_Missense_Mutation_p.E156D|HRASLS5_uc010rmq.1_Missense_Mutation_p.E166D|HRASLS5_uc009yos.2_RNA	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5 isoform 1	166										ovary(1)	1						TGCTGCCCACCTCAAACTCCT	0.498													G	63233831	C	G	63233831	3	3	22	1	0	0	0	0	1	0	0	0	7351	680	24	5	349	5	HRASLS5	11	63233831	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	29125965	63233831	71772685	103	20531											
PGR	5241	broad.mit.edu	37	chr11	100912766	100912766	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctcaaaccaattgccttgatGagctctctaatgtagcttga	7	10	2	3			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr11:100912766G>C	uc001pgh.2	-	7	3299	c.2556C>G	c.(2554-2556)CTC>CTG	p.L852L	PGR_uc001pgg.2_Silent_p.L233L|PGR_uc001pgi.2_Silent_p.L750L|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	852	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TTGCCTTGATGAGCTCTCTAA	0.403													C	100912766	G	C	100912766	2	2	22	1	0	0	0	0	0	0	0	1	11805	1277	45	5		5	PGR	11	100912766	Silent	SNP	G	TCGA-BR-4366-01A-01D-1158-08	37678935	100912766	34093750	104	20532											
OR8B12	219858	broad.mit.edu	37	chr11	124413458	124413458	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acggtgaccgtgtagaaaccCagaaacaggaagaagagggg	15	7	0	5			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr11:124413458C>A	uc010sam.1	-	1	93	c.93G>T	c.(91-93)CTG>CTT	p.L31L		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	31	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TGTAGAAACCCAGAAACAGGA	0.512													A	124413458	C	A	124413458	2	1	22	1	0	0	0	0	0	0	0	1	11226	581	21	5		5	OR8B12	11	124413458	Silent	SNP	C	TCGA-BR-4366-01A-01D-1158-08	23500692	124413458	10593058	105	20533											
CLEC2B	9976	broad.mit.edu	37	chr12	10005899	10005899	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccattatcttagacattaacTtagtgtattcttttcctgca	4	9	2	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr12:10005899T>G	uc001qwn.2	-	5	1107	c.450A>C	c.(448-450)TAA>TAC	p.*150Y		NM_005127	NP_005118	Q92478	CLC2B_HUMAN	C-type lectin, superfamily member 2	150						integral to plasma membrane	sugar binding				0						AGACATTAACTTAGTGTATTC	0.358													G	10005899	T	G	10005899	4	3	22	1	0	0	0	0	0	0	0	0	3507	1616	56	5	3	5	CLEC2B	12	10005899	Nonstop_Mutation	SNP	T	TCGA-BR-4366-01A-01D-1158-08		10005899	123845996	106	20534											
MRPS35	60488	broad.mit.edu	37	chr12	27869258	27869258	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagagaaaatggctgttgAccaggactggcctagtgttt	13	7	0	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr12:27869258A>G	uc001rih.2	+	3	236	c.188A>G	c.(187-189)GAC>GGC	p.D63G	MRPS35_uc001rii.2_Missense_Mutation_p.D63G	NM_021821	NP_068593	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35 precursor	63					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit					0	Lung SC(9;0.0873)					ATGGCTGTTGACCAGGACTGG	0.388													G	27869258	A	G	27869258	3	3	22	1	0	0	0	0	1	0	0	0	9844	275	10	3	198	3	MRPS35	12	27869258	Missense_Mutation	SNP	A	TCGA-BR-4366-01A-01D-1158-08	17863359	27869258	105982637	107	20535											
TMTC1	83857	broad.mit.edu	37	chr12	29670473	29670473	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctcccaaaggtgacaAtatctcagctttgtgtgcca	9	11	1	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr12:29670473A>G	uc001rjb.2	-	14	2206	c.1732T>C	c.(1732-1734)TTG>CTG	p.L578L	TMTC1_uc001riz.2_Silent_p.L335L|TMTC1_uc001rja.2_Silent_p.L422L|TMTC1_uc001riy.2_Silent_p.L31L	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	686	TPR 7.					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AAAGGTGACAATATCTCAGCT	0.458													G	29670473	A	G	29670473	2	3	22	1	0	0	0	0	0	0	0	1	16257	98	4	3		3	TMTC1	12	29670473	Silent	SNP	A	TCGA-BR-4366-01A-01D-1158-08	1801215	29670473	104181422	108	20536											
LRRK2	120892	broad.mit.edu	37	chr12	40653377	40653377	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accagtgcagctggaggcgcTtcgagctattttacatttta	10	9	0	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr12:40653377T>G	uc001rmg.3	+	13	1635	c.1514T>G	c.(1513-1515)CTT>CGT	p.L505R	LRRK2_uc001rmh.1_Missense_Mutation_p.L127R	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	505					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTGGAGGCGCTTCGAGCTATT	0.388													G	40653377	T	G	40653377	3	3	22	1	0	0	0	0	1	0	0	0	9033	1609	56	5	1564	5	LRRK2	12	40653377	Missense_Mutation	SNP	T	TCGA-BR-4366-01A-01D-1158-08	10982904	40653377	93198518	109	20537											
ACSS3	79611	broad.mit.edu	37	chr12	81627146	81627146	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agggatattatgataccatgGatgctggttacatggatgaa	12	4	0	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr12:81627146G>C	uc001szl.1	+	13	1706	c.1615G>C	c.(1615-1617)GAT>CAT	p.D539H	ACSS3_uc001szm.1_Missense_Mutation_p.D538H|ACSS3_uc001szn.1_Missense_Mutation_p.D221H	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	539						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						TGATACCATGGATGCTGGTTA	0.343													C	81627146	G	C	81627146	3	2	22	1	0	0	0	0	1	0	0	0	190	1174	41	5	1665	5	ACSS3	12	81627146	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	40973769	81627146	52224749	110	20538			1	4		3	3	92	G		1.14893e-07
ACSS3	79611	broad.mit.edu	37	chr12	81627200	81627200	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgttatgtctcgagtggatGatgtaataaatgttgcaggt	12	3	1	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr12:81627200G>T	uc001szl.1	+	13	1760	c.1669G>T	c.(1669-1671)GAT>TAT	p.D557Y	ACSS3_uc001szm.1_Missense_Mutation_p.D556Y|ACSS3_uc001szn.1_Missense_Mutation_p.D239Y	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	557						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						TCGAGTGGATGATGTAATAAA	0.373													T	81627200	G	T	81627200	3	4	22	1	0	0	0	0	1	0	0	0	190	1290	45	5	1719	5	ACSS3	12	81627200	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	54	81627200	52224695	111	20539			1	4		3	3	92	G		1.14893e-07
ACSS3	79611	broad.mit.edu	37	chr12	81627237	81627237	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtcacagaatttctgcagGcgccattgaagaggtattga	12	7	2	4			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr12:81627237G>T	uc001szl.1	+	13	1797	c.1706G>T	c.(1705-1707)GGC>GTC	p.G569V	ACSS3_uc001szm.1_Missense_Mutation_p.G568V|ACSS3_uc001szn.1_Missense_Mutation_p.G251V	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	569						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						ATTTCTGCAGGCGCCATTGAA	0.398													T	81627237	G	T	81627237	3	4	22	1	0	0	0	0	1	0	0	0	190	1203	42	5	1756	5	ACSS3	12	81627237	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	37	81627237	52224658	112	20540			1	4		3	3	92	G		1.14893e-07
VEZT	55591	broad.mit.edu	37	chr12	95660289	95660290	+	Frame_Shift_Ins	INS	-	-	A													ccaaactacaagtgaccctaINSaaaaaatacagcgttcattt							TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr12:95660288_95660289T>TA	uc001tdz.2	+	4	695_696	c.590_591T>TA	c.(589-591)ctafs	p.L197fs	VEZT_uc001tds.3_Frame_Shift_Ins_p.L149fs|VEZT_uc001tdv.3_Frame_Shift_Ins_p.L166fs|VEZT_uc009zsy.1_Frame_Shift_Ins_p.L39fs|VEZT_uc001tdr.2_Frame_Shift_Ins_p.L39fs|VEZT_uc001tdt.2_Frame_Shift_Ins_p.L149fs|VEZT_uc009zsz.1_Frame_Shift_Ins_p.L197fs|VEZT_uc001tdw.1_Frame_Shift_Ins_p.L149fs|VEZT_uc009zta.1_Frame_Shift_Ins_p.L149fs	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA.	197						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CAAGTGACCCTAAAAAAATACA	0.421													A	95660290	-	A	95660289	7	5	22	1	0	1	1	0	0	0	0	0	17153	349	13	0	609	0	VEZT	12	95660289	Frame_Shift_Ins	INS	-	TCGA-BR-4366-01A-01D-1158-08	14033052	95660289	38191606	113	20541											
ALDH1L2	160428	broad.mit.edu	37	chr12	105433501	105433501	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaatacctcttcatgaTctgtttgccaataggagtgg	8	9	3	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr12:105433501T>G	uc001tlc.2	-	17	2162	c.2035A>C	c.(2035-2037)ATC>CTC	p.I679L	ALDH1L2_uc009zuo.2_Missense_Mutation_p.I134L|ALDH1L2_uc009zup.2_RNA	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	679	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			skin(1)	1						CTCTTCATGATCTGTTTGCCA	0.388													G	105433501	T	G	105433501	3	3	22	1	0	0	0	0	1	0	0	0	495	1435	50	5	764	5	ALDH1L2	12	105433501	Missense_Mutation	SNP	T	TCGA-BR-4366-01A-01D-1158-08	9773212	105433501	28418394	114	20542											
NCOR2	9612	broad.mit.edu	37	chr12	124950804	124950804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcttctcaggctcgggcGgcttggcagcctcctcctcc	13	17	1	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr12:124950804G>A	uc010tba.1	-	5	737	c.620C>T	c.(619-621)CCG>CTG	p.P207L	NCOR2_uc010tay.1_Missense_Mutation_p.P207L|NCOR2_uc010taz.1_Missense_Mutation_p.P207L|NCOR2_uc010tbb.1_Missense_Mutation_p.P207L|NCOR2_uc010tbc.1_Missense_Mutation_p.P207L|NCOR2_uc001ugj.1_Missense_Mutation_p.P207L|NCOR2_uc001ugk.1_Missense_Mutation_p.P207L	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	207	Potential.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AGGCTCGGGCGGCTTGGCAGC	0.682													A	124950804	G	A	124950804	3	1	22	1	0	0	0	0	1	0	0	0	10236	1116	39	1	7120	1	NCOR2	12	124950804	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	19517303	124950804	8901091	115	20543											
ZNF10	7556	broad.mit.edu	37	chr12	133733085	133733085	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaagtcttacagccagagatCtcaccttgttgtgcatcata	7	10	3	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr12:133733085C>T	uc009zzb.2	+	5	1700	c.1253C>T	c.(1252-1254)TCT>TTT	p.S418F	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.S418F	NM_015394	NP_056209	P21506	ZNF10_HUMAN	zinc finger protein 10	418	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AGCCAGAGATCTCACCTTGTT	0.413													T	133733085	C	T	133733085	3	4	22	1	0	0	0	0	1	0	0	0	17709	913	32	4	1267	4	ZNF10	12	133733085	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	8782281	133733085	118810	116	20544											
PABPC3	5042	broad.mit.edu	37	chr13	25671314	25671314	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcactagtgcaaaggttatGatggaaggtggtcgcagcaa	13	6	1	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr13:25671314G>A	uc001upy.2	+	1	1039	c.978G>A	c.(976-978)ATG>ATA	p.M326I		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	326	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CAAAGGTTATGATGGAAGGTG	0.408													A	25671314	G	A	25671314	3	1	22	1	0	0	0	0	1	0	0	0	11365	1290	45	4	980	4	PABPC3	13	25671314	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08		25671314	89498564	117	20545											
KDELC1	79070	broad.mit.edu	37	chr13	103445952	103445952	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaatcatgtgttgtaccTtgttatcctttaaggtgtag	8	5	1	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr13:103445952T>G	uc001vpq.3	-	3	977	c.593A>C	c.(592-594)AAG>ACG	p.K198T	KDELC1_uc001vpr.3_5'UTR	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1 precursor	198						endoplasmic reticulum lumen				ovary(1)	1	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GTGTTGTACCTTGTTATCCTT	0.348													G	103445952	T	G	103445952	3	3	22	1	0	0	0	0	1	0	0	0	8117	1623	56	5	947	5	KDELC1	13	103445952	Missense_Mutation	SNP	T	TCGA-BR-4366-01A-01D-1158-08	77774638	103445952	11723926	118	20546											
CARS2	79587	broad.mit.edu	37	chr13	111298372	111298372	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggcccaggatggcatcaAccaccctgggtgtgtcaaaa	11	12	2	0	rs146878400		TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr13:111298372A>G	uc001vrd.2	-	12	1299	c.1259T>C	c.(1258-1260)GTT>GCT	p.V420A	CARS2_uc010tjm.1_RNA	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial	420					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding				0	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GATGGCATCAACCACCCTGGG	0.612													G	111298372	A	G	111298372	3	3	22	1	0	0	0	0	1	0	0	0	2658	43	2	3	451	3	CARS2	13	111298372	Missense_Mutation	SNP	A	TCGA-BR-4366-01A-01D-1158-08	7852420	111298372	3871506	119	20547											
TOX4	9878	broad.mit.edu	37	chr14	21961177	21961177	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccattctgcagcagcctcctCcactccaggccatgcaacag	7	18	1	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr14:21961177C>G	uc001waz.2	+	7	1505	c.1402C>G	c.(1402-1404)CCA>GCA	p.P468A	TOX4_uc001way.2_Missense_Mutation_p.P338A|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Missense_Mutation_p.P445A|TOX4_uc010tlv.1_Missense_Mutation_p.P338A	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	468	Gln/Pro-rich.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			ovary(1)	1	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GCAGCCTCCTCCACTCCAGGC	0.542													G	21961177	C	G	21961177	3	3	22	1	0	0	0	0	1	0	0	0	16377	855	30	5	1428	5	TOX4	14	21961177	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08		21961177	85388363	120	20548											
G2E3	55632	broad.mit.edu	37	chr14	31085623	31085623	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttggaaacaagtgtaataaCtgtttagcaattcccatcac	7	8	1	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr14:31085623C>G	uc001wqk.2	+	15	2158	c.2004C>G	c.(2002-2004)AAC>AAG	p.N668K	G2E3_uc010tpf.1_Missense_Mutation_p.N622K|G2E3_uc001wql.1_Missense_Mutation_p.N180K	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	668	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						AGTGTAATAACTGTTTAGCAA	0.378													G	31085623	C	G	31085623	3	3	22	1	0	0	0	0	1	0	0	0	6140	564	20	5	2058	5	G2E3	14	31085623	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	9124446	31085623	76263917	121	20549											
OCA2	4948	broad.mit.edu	37	chr15	28228581	28228581	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgtttgtgaagatcacTtctgcaatcaggacttgtct	8	9	4	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr15:28228581T>G	uc001zbh.3	-	14	1523	c.1413A>C	c.(1411-1413)GAA>GAC	p.E471D	OCA2_uc010ayv.2_Missense_Mutation_p.E447D	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	471	Extracellular (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TGAAGATCACTTCTGCAATCA	0.463									Oculocutaneous_Albinism				G	28228581	T	G	28228581	3	3	22	1	0	0	0	0	1	0	0	0	10815	1606	56	5	1147	5	OCA2	15	28228581	Missense_Mutation	SNP	T	TCGA-BR-4366-01A-01D-1158-08		28228581	74302811	122	20550											
CLN6	54982	broad.mit.edu	37	chr15	68504080	68504080	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaggtggtgctggtagccaCtgaagagcaggcggtggttg	18	7	0	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr15:68504080C>A	uc002arf.2	-	4	577	c.419G>T	c.(418-420)AGT>ATT	p.S140I	CLN6_uc010ujy.1_Intron|CLN6_uc010ujz.1_Missense_Mutation_p.S172I	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN	CLN6 protein	140					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity				0						CTGGTAGCCACTGAAGAGCAG	0.587													A	68504080	C	A	68504080	3	1	22	1	0	0	0	0	1	0	0	0	3545	565	20	5	532	5	CLN6	15	68504080	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	40275499	68504080	34027312	123	20551											
ADPGK	83440	broad.mit.edu	37	chr15	73052844	73052844	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aagaagctcatgtagctttgGaccaactggaccgcaaagaa	10	9	1	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr15:73052844G>C	uc002avg.3	-	4	641	c.547C>G	c.(547-549)CCA>GCA	p.P183A	ADPGK_uc010ukw.1_Missense_Mutation_p.P125A|ADPGK_uc002avf.3_Missense_Mutation_p.P183A|ADPGK_uc002avi.3_Missense_Mutation_p.P61A|ADPGK_uc002avh.3_5'UTR	NM_031284	NP_112574	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	183	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding				0						TGTAGCTTTGGACCAACTGGA	0.498													C	73052844	G	C	73052844	3	2	22	1	0	0	0	0	1	0	0	0	330	1174	41	5	959	5	ADPGK	15	73052844	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	4548764	73052844	29478548	124	20552											
IFT140	9742	broad.mit.edu	37	chr16	1614069	1614069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcgcggcgtctcctgcaCggcttcgcatacaaacagcc	12	15	1	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr16:1614069C>T	uc002cmb.2	-	17	2358	c.1996G>A	c.(1996-1998)GTG>ATG	p.V666M	IFT140_uc002clz.2_Missense_Mutation_p.V317M	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	666										ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)				GTCTCCTGCACGGCTTCGCAT	0.572													T	1614069	C	T	1614069	3	4	22	1	0	0	0	0	1	0	0	0	7556	536	19	1	2452	1	IFT140	16	1614069	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08		1614069	88740684	125	20553											
DCUN1D3	123879	broad.mit.edu	37	chr16	20873428	20873428	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acataaagtgtttgtgactaAcctggtgaatttgcacatgg	10	6	0	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr16:20873428A>C	uc002dhz.2	-	2	572	c.431_splice	c.e2+1	p.R144_splice	ERI2_uc002dht.3_Intron	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain						negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				ovary(2)	2				GBM - Glioblastoma multiforme(48;0.249)		TTTGTGACTAACCTGGTGAAT	0.517													C	20873428	A	C	20873428	5	2	22	1	0	0	0	0	0	0	1	0	4315	57	2	5	489	5	DCUN1D3	16	20873428	Splice_Site	SNP	A	TCGA-BR-4366-01A-01D-1158-08	19259359	20873428	69481325	126	20554											
CDH8	1006	broad.mit.edu	37	chr16	61747758	61747758	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tatttaccttcatttttcttGatggtgaaattcggattgtt	7	5	2	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr16:61747758G>C	uc002eog.1	-	10	1893	c.1641C>G	c.(1639-1641)ATC>ATG	p.I547M		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	547	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CATTTTTCTTGATGGTGAAAT	0.313													C	61747758	G	C	61747758	3	2	22	1	0	0	0	0	1	0	0	0	3116	1280	45	5	770	5	CDH8	16	61747758	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	40874330	61747758	28606995	127	20555											
CDH8	1006	broad.mit.edu	37	chr16	61935315	61935315	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttatttgaaatatggtcccAgctccatcacctgataggat	7	9	1	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr16:61935315A>C	uc002eog.1	-	3	567	c.315T>G	c.(313-315)GCT>GCG	p.A105A		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	105	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATATGGTCCCAGCTCCATCAC	0.408													C	61935315	A	C	61935315	2	2	22	1	0	0	0	0	0	0	0	1	3116	175	7	5		5	CDH8	16	61935315	Silent	SNP	A	TCGA-BR-4366-01A-01D-1158-08	187557	61935315	28419438	128	20556											
TP53	7157	broad.mit.edu	37	chr17	7578431	7578431	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaacctccgtcatgtgctGtgactgcttgtagatggcca	10	12	1	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr17:7578431G>A	uc002gim.2	-	5	693	c.499C>T	c.(499-501)CAG>TAG	p.Q167*	TP53_uc002gig.1_Nonsense_Mutation_p.Q167*|TP53_uc002gih.2_Nonsense_Mutation_p.Q167*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q35*|TP53_uc010cng.1_Nonsense_Mutation_p.Q35*|TP53_uc002gii.1_Nonsense_Mutation_p.Q35*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q167*|TP53_uc010cni.1_Nonsense_Mutation_p.Q167*|TP53_uc002gij.2_Nonsense_Mutation_p.Q167*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.Q74*|TP53_uc002gio.2_Nonsense_Mutation_p.Q35*|TP53_uc010vug.1_Nonsense_Mutation_p.Q128*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	167	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		QH -> HD (in a sporadic cancer; somatic mutation).|Q -> K (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|QH -> YL (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q167*(19)|p.Q167fs*14(8)|p.0?(7)|p.Q167R(4)|p.Q167L(3)|p.Q167H(3)|p.Q167Q(3)|p.Q167fs*13(3)|p.Q167fs*3(3)|p.K164fs*3(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.Q167K(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.Q167E(1)|p.Q167del(1)|p.Q167fs*12(1)|p.S149fs*72(1)|p.Q167_H168>HD(1)|p.Q167_H168>YL(1)|p.Q167fs*4(1)|p.Q165_M169delQSQHM(1)|p.A159_Q167delAMAIYKQSQ(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTCATGTGCTGTGACTGCTTG	0.642		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7578431	G	A	7578431	4	1	22	1	0	0	0	0	0	1	0	0	16378	1386	48	4	799	4	TP53	17	7578431	Nonsense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08		7578431	73616779	129	20557											
FLCN	201163	broad.mit.edu	37	chr17	17127308	17127308	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggaagggccaggagttgatGaggtagatccggtccatcat	15	7	1	3			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr17:17127308G>T	uc002gra.3	-	6	1050	c.546C>A	c.(544-546)CTC>CTA	p.L182L	PLD6_uc010cpn.2_Intron|FLCN_uc002grb.3_Silent_p.L182L	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	folliculin isoform 1	182					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						AGGAGTTGATGAGGTAGATCC	0.582									Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer				T	17127308	G	T	17127308	2	4	22	1	0	0	0	0	0	0	0	1	5921	1277	45	5		5	FLCN	17	17127308	Silent	SNP	G	TCGA-BR-4366-01A-01D-1158-08	9548877	17127308	64067902	130	20558											
ULK2	9706	broad.mit.edu	37	chr17	19687073	19687073	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagcccctctaggctgggGggtgaagcaccgtaaggcac	15	11	1	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr17:19687073G>A	uc002gwm.3	-	22	2906	c.2397C>T	c.(2395-2397)CCC>CCT	p.P799P	ULK2_uc002gwn.2_Silent_p.P799P	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	799					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CTAGGCTGGGGGGTGAAGCAC	0.602													A	19687073	G	A	19687073	2	1	22	1	0	0	0	0	0	0	0	1	16973	1219	43	4		4	ULK2	17	19687073	Silent	SNP	G	TCGA-BR-4366-01A-01D-1158-08	2559765	19687073	61508137	131	20559											
UTP6	55813	broad.mit.edu	37	chr17	30207692	30207692	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcgttgtaggctgctcTtctgtctgtgactcaatctc	9	10	5	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr17:30207692T>C	uc002hgr.2	-	11	950	c.867A>G	c.(865-867)GAA>GAG	p.E289E	UTP6_uc002hgq.2_Silent_p.E105E|UTP6_uc010cst.2_Silent_p.E138E|UTP6_uc010wbw.1_Silent_p.E289E	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	hepatocellular carcinoma-associated antigen 66	289					rRNA processing	nucleolus	binding			ovary(1)	1		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TAGGCTGCTCTTCTGTCTGTG	0.488													C	30207692	T	C	30207692	2	2	22	1	0	0	0	0	0	0	0	1	17099	1606	56	3		3	UTP6	17	30207692	Silent	SNP	T	TCGA-BR-4366-01A-01D-1158-08	10520619	30207692	50987518	132	20560											
RAPGEFL1	51195	broad.mit.edu	37	chr17	38346698	38346698	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcagagaaggtccttcTccagcccactgaggactgtg	11	13	1	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr17:38346698T>C	uc010cwu.1	+	7	999	c.509T>C	c.(508-510)CTC>CCC	p.L170P	RAPGEFL1_uc010wfd.1_Missense_Mutation_p.L106P	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor	376					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						AAGGTCCTTCTCCAGCCCACT	0.557													C	38346698	T	C	38346698	3	2	22	1	0	0	0	0	1	0	0	0	13049	1551	54	3	527	3	RAPGEFL1	17	38346698	Missense_Mutation	SNP	T	TCGA-BR-4366-01A-01D-1158-08	8139006	38346698	42848512	133	20561											
KRT33A	3883	broad.mit.edu	37	chr17	39506755	39506755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgtgaccgctcccGgatgaggttctccagctccg	12	15	1	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr17:39506755G>A	uc002hwk.1	-	1	302	c.265C>T	c.(265-267)CGG>TGG	p.R89W		NM_004138	NP_004129	O76009	KT33A_HUMAN	keratin 33A	89	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)				GACCGCTCCCGGATGAGGTTC	0.607													A	39506755	G	A	39506755	3	1	22	1	0	0	0	0	1	0	0	0	8469	1115	39	1	977	1	KRT33A	17	39506755	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	1160057	39506755	41688455	134	20562											
PRPSAP1	5635	broad.mit.edu	37	chr17	74328423	74328423	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgctctgcttgctgtagggGaagtaggggatgaccccaat	14	8	1	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr17:74328423G>A	uc010wta.1	-	4	830	c.384C>T	c.(382-384)TTC>TTT	p.F128F	PRPSAP1_uc010wtb.1_Silent_p.F25F	NM_002766	NP_002757	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate	99					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			ovary(1)	1						TGCTGTAGGGGAAGTAGGGGA	0.537													A	74328423	G	A	74328423	2	1	22	1	0	0	0	0	0	0	0	1	12581	1165	41	4		4	PRPSAP1	17	74328423	Silent	SNP	G	TCGA-BR-4366-01A-01D-1158-08	34821668	74328423	6866787	135	20563											
ROCK1	6093	broad.mit.edu	37	chr18	18539829	18539829	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caataccatagatggattggAttgctccttatcttgttcgt	8	8	1	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr18:18539829A>G	uc002kte.2	-	29	4425	c.3484T>C	c.(3484-3486)TCC>CCC	p.S1162P		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	1162	PH.|Auto-inhibitory.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					GATGGATTGGATTGCTCCTTA	0.313													G	18539829	A	G	18539829	3	3	22	1	0	0	0	0	1	0	0	0	13517	333	12	3	600	3	ROCK1	18	18539829	Missense_Mutation	SNP	A	TCGA-BR-4366-01A-01D-1158-08		18539829	59537419	136	20564											
ASXL3	80816	broad.mit.edu	37	chr18	31319396	31319396	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaaactttcatgcatctttGatgtcagaaatatctccaat	5	8	4	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr18:31319396G>A	uc010dmg.1	+	11	2083	c.2028G>A	c.(2026-2028)TTG>TTA	p.L676L	ASXL3_uc002kxq.2_Silent_p.L383L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	676	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						ATGCATCTTTGATGTCAGAAA	0.373													A	31319396	G	A	31319396	2	1	22	1	0	0	0	0	0	0	0	1	1068	1281	45	4		4	ASXL3	18	31319396	Silent	SNP	G	TCGA-BR-4366-01A-01D-1158-08	12779567	31319396	46757852	137	20565											
SHC2	25759	broad.mit.edu	37	chr19	422149	422149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtgcacagcttaccacGccctcggggtccacgagcag	11	16	0	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr19:422149G>A	uc002loq.3	-	11	1617	c.1617C>T	c.(1615-1617)GGC>GGT	p.G539G	SHC2_uc002lop.3_Silent_p.G280G	NM_012435	NP_036567	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing)	539	SH2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol					0		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTTACCACGCCCTCGGGGT	0.682													A	422149	G	A	422149	2	1	22	1	0	0	0	0	0	0	0	1	14271	1074	38	1		1	SHC2	19	422149	Silent	SNP	G	TCGA-BR-4366-01A-01D-1158-08		422149	58706834	138	20566											
MUC16	94025	broad.mit.edu	37	chr19	9007487	9007487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccattgactggtacttacTtgtggggctggggacggggg	18	7	0	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr19:9007487T>C	uc002mkp.2	-	43	39685	c.39481A>G	c.(39481-39483)ACC>GCC	p.T13161A	MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13163	Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGGTACTTACTTGTGGGGCTG	0.458													C	9007487	T	C	9007487	3	2	22	1	0	0	0	0	1	0	0	0	9973	1623	56	3	4210	3	MUC16	19	9007487	Missense_Mutation	SNP	T	TCGA-BR-4366-01A-01D-1158-08	8585338	9007487	50121496	139	20567											
ELAVL3	1995	broad.mit.edu	37	chr19	11565551	11565551	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaacagctgccacagcacGctctcgtctgcctccggtga	10	17	2	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr19:11565551G>A	uc002mry.1	-	7	1274	c.894C>T	c.(892-894)AGC>AGT	p.S298S	ELAVL3_uc002mrx.1_Silent_p.S291S	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	298	RRM 3.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)|skin(1)	3						GCCACAGCACGCTCTCGTCTG	0.522													A	11565551	G	A	11565551	2	1	22	1	0	0	0	0	0	0	0	1	5051	1078	38	1		1	ELAVL3	19	11565551	Silent	SNP	G	TCGA-BR-4366-01A-01D-1158-08	2558064	11565551	47563432	140	20568											
SLC1A6	6511	broad.mit.edu	37	chr19	15067316	15067316	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcccatagcggtgatgaGggcttgtagcatgcccccaa	13	12	0	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr19:15067316G>T	uc002naa.1	-	6	1149	c.1141C>A	c.(1141-1143)CTC>ATC	p.L381I	SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Missense_Mutation_p.L317I	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	381	Helical; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	GCGGTGATGAGGGCTTGTAGC	0.582													T	15067316	G	T	15067316	3	4	22	1	0	0	0	0	1	0	0	0	14436	1000	35	5	569	5	SLC1A6	19	15067316	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	3501765	15067316	44061667	141	20569											
EPHX3	79852	broad.mit.edu	37	chr19	15342603	15342603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaccagttctcagggaagcCgtgcagaaacagcatgaggg	14	9	1	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr19:15342603C>T	uc002nap.2	-	2	522	c.313G>A	c.(313-315)GGC>AGC	p.G105S	EPHX3_uc002naq.2_Missense_Mutation_p.G105S	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	abhydrolase domain containing 9 precursor	105						extracellular region	hydrolase activity				0						TCAGGGAAGCCGTGCAGAAAC	0.672													T	15342603	C	T	15342603	3	4	22	1	0	0	0	0	1	0	0	0	5181	652	23	1	793	1	EPHX3	19	15342603	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	275287	15342603	43786380	142	20570											
ZNF257	113835	broad.mit.edu	37	chr19	22271961	22271961	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggcaaagcctttaaccAgtcttcacaccttactcaac	6	13	3	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr19:22271961A>G	uc010ecx.2	+	4	1578	c.1409A>G	c.(1408-1410)CAG>CGG	p.Q470R	ZNF257_uc010ecy.2_Missense_Mutation_p.Q438R	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	470	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCCTTTAACCAGTCTTCACAC	0.408													G	22271961	A	G	22271961	3	3	22	1	0	0	0	0	1	0	0	0	17797	188	7	3	1423	3	ZNF257	19	22271961	Missense_Mutation	SNP	A	TCGA-BR-4366-01A-01D-1158-08	6929358	22271961	36857022	143	20571			2	5		3	3	65	A		5.656812e-08
ZNF257	113835	broad.mit.edu	37	chr19	22271975	22271975	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttaaccagtcttcacaccttActcaacataaaataattcat	1	11	4	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr19:22271975A>T	uc010ecx.2	+	4	1592	c.1423A>T	c.(1423-1425)ACT>TCT	p.T475S	ZNF257_uc010ecy.2_Missense_Mutation_p.T443S	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	475	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCACACCTTACTCAACATAA	0.393													T	22271975	A	T	22271975	3	4	22	1	0	0	0	0	1	0	0	0	17797	391	14	5	1437	5	ZNF257	19	22271975	Missense_Mutation	SNP	A	TCGA-BR-4366-01A-01D-1158-08	14	22271975	36857008	144	20572			2	5		3	3	65	A		5.656812e-08
ZNF257	113835	broad.mit.edu	37	chr19	22272025	22272025	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagccctacaaatgtgaagaAtgtggcaaagcctttaaccg	9	9	0	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr19:22272025A>G	uc010ecx.2	+	4	1642	c.1473A>G	c.(1471-1473)GAA>GAG	p.E491E	ZNF257_uc010ecy.2_Silent_p.E459E	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	491	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				AATGTGAAGAATGTGGCAAAG	0.398													G	22272025	A	G	22272025	2	3	22	1	0	0	0	0	0	0	0	1	17797	98	4	3		3	ZNF257	19	22272025	Silent	SNP	A	TCGA-BR-4366-01A-01D-1158-08	50	22272025	36856958	145	20573			2	5		3	3	65	A		5.656812e-08
ZNF536	9745	broad.mit.edu	37	chr19	30935907	30935907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccagcatggcccacggcGtcccggagggggacaagcac	14	15	1	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr19:30935907G>A	uc002nsu.1	+	2	1576	c.1438G>A	c.(1438-1440)GTC>ATC	p.V480I	ZNF536_uc010edd.1_Missense_Mutation_p.V480I	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GGCCCACGGCGTCCCGGAGGG	0.662													A	30935907	G	A	30935907	3	1	22	1	0	0	0	0	1	0	0	0	17971	1145	40	1	1440	1	ZNF536	19	30935907	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	8663882	30935907	28193076	146	20574											
SPTBN4	57731	broad.mit.edu	37	chr19	41000878	41000878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaatgccctcattcaccGgcacaggtaccacctggcct	7	17	3	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr19:41000878G>A	uc002ony.2	+	6	748	c.662G>A	c.(661-663)CGG>CAG	p.R221Q	SPTBN4_uc002onx.2_Missense_Mutation_p.R221Q|SPTBN4_uc002onz.2_Missense_Mutation_p.R221Q	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	221	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCATTCACCGGCACAGGTAC	0.502													A	41000878	G	A	41000878	3	1	22	1	0	0	0	0	1	0	0	0	15120	1116	39	1	680	1	SPTBN4	19	41000878	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	10064971	41000878	18128105	147	20575											
TGM3	7053	broad.mit.edu	37	chr20	2321089	2321089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccccatcagcgtgccgacCctagggcccaaggaggggtc	13	16	1	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr20:2321089C>T	uc002wfx.3	+	13	2041	c.1944C>T	c.(1942-1944)ACC>ACT	p.T648T		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	648					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	GCGTGCCGACCCTAGGGCCCA	0.617													T	2321089	C	T	2321089	2	4	22	1	0	0	0	0	0	0	0	1	15828	610	22	4		4	TGM3	20	2321089	Silent	SNP	C	TCGA-BR-4366-01A-01D-1158-08		2321089	60704431	148	20576											
PHF20	51230	broad.mit.edu	37	chr20	34501210	34501210	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaataaagagaagaaattcaAggagtttgtgagagtgaagc	13	2	1	4			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr20:34501210A>G	uc002xek.1	+	11	1712	c.1601A>G	c.(1600-1602)AAG>AGG	p.K534R	PHF20_uc002xei.1_Missense_Mutation_p.K534R|PHF20_uc010gfo.1_Missense_Mutation_p.K534R|PHF20_uc002xej.1_Missense_Mutation_p.K418R|PHF20_uc002xem.1_RNA	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	534	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					aagaaattcaaggagtttgtg	0.199													G	34501210	A	G	34501210	3	3	22	1	0	0	0	0	1	0	0	0	11831	72	3	3	1639	3	PHF20	20	34501210	Missense_Mutation	SNP	A	TCGA-BR-4366-01A-01D-1158-08	32180121	34501210	28524310	149	20577											
MATN4	8785	broad.mit.edu	37	chr20	43926920	43926920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggggccgtgcaccctgcGcctcggagaagctgtgctcc	14	16	0	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr20:43926920G>A	uc002xnn.2	-	7	1503	c.1316C>T	c.(1315-1317)GCG>GTG	p.A439V	MATN4_uc002xno.2_Missense_Mutation_p.A398V|MATN4_uc002xnp.2_Missense_Mutation_p.A357V|MATN4_uc010zwr.1_Missense_Mutation_p.A387V|MATN4_uc002xnr.1_Missense_Mutation_p.A439V	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	480	VWFA 2.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				TGCACCCTGCGCCTCGGAGAA	0.677													A	43926920	G	A	43926920	3	1	22	1	0	0	0	0	1	0	0	0	9336	1087	38	1	445	1	MATN4	20	43926920	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	9425710	43926920	19098600	150	20578											
NFATC2	4773	broad.mit.edu	37	chr20	50139845	50139845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatcccacaaggcgagtccGtggcgaggctgttcagggca	16	11	1	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr20:50139845G>A	uc002xwd.2	-	2	1155	c.935C>T	c.(934-936)ACG>ATG	p.T312M	NFATC2_uc002xwc.2_Missense_Mutation_p.T312M|NFATC2_uc010zyv.1_Missense_Mutation_p.T93M|NFATC2_uc010zyw.1_Missense_Mutation_p.T93M|NFATC2_uc010zyx.1_Missense_Mutation_p.T292M|NFATC2_uc010zyy.1_Missense_Mutation_p.T93M|NFATC2_uc010zyz.1_Missense_Mutation_p.T93M|NFATC2_uc002xwe.2_Missense_Mutation_p.T292M	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	312					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					AGGCGAGTCCGTGGCGAGGCT	0.687													A	50139845	G	A	50139845	3	1	22	1	0	0	0	0	1	0	0	0	10362	1145	40	1	1926	1	NFATC2	20	50139845	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	6212925	50139845	12885675	151	20579											
ZNF217	7764	broad.mit.edu	37	chr20	52193274	52193274	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgacaatccacacttggccTgtatctgcagtcagctgcgg	11	12	2	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr20:52193274T>G	uc002xwq.3	-	3	2300	c.2029A>C	c.(2029-2031)AGG>CGG	p.R677R	ZNF217_uc010gij.1_Silent_p.R669R	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	677					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			ACACTTGGCCTGTATCTGCAG	0.473													G	52193274	T	G	52193274	2	3	22	1	0	0	0	0	0	0	0	1	17769	1579	55	5		5	ZNF217	20	52193274	Silent	SNP	T	TCGA-BR-4366-01A-01D-1158-08	2053429	52193274	10832246	152	20580											
RAE1	8480	broad.mit.edu	37	chr20	55949675	55949675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgcaggtaaatggaatcGcgttccatcctgttcatggc	10	11	1	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr20:55949675G>A	uc002xyg.2	+	11	1179	c.838G>A	c.(838-840)GCG>ACG	p.A280T	RAE1_uc010gis.1_Missense_Mutation_p.A233T|RAE1_uc010git.1_Missense_Mutation_p.A280T|RAE1_uc002xyh.2_Missense_Mutation_p.A280T|RAE1_uc002xyi.2_Missense_Mutation_p.A280T	NM_003610	NP_003601	P78406	RAE1L_HUMAN	RAE1 (RNA export 1, S.pombe) homolog	280	WD 4.				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding				0	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			AAATGGAATCGCGTTCCATCC	0.493													A	55949675	G	A	55949675	3	1	22	1	0	0	0	0	1	0	0	0	12998	1087	38	1	876	1	RAE1	20	55949675	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	3756401	55949675	7075845	153	20581											
LAMA5	3911	broad.mit.edu	37	chr20	60887023	60887023	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taatggggggcaccatcggcGaagcccgcttgagttttcac	13	11	1	1	rs139135120		TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr20:60887023G>A	uc002ycq.2	-	70	9655	c.9588C>T	c.(9586-9588)TTC>TTT	p.F3196F		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3196	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCATCGGCGAAGCCCGCTT	0.652													A	60887023	G	A	60887023	2	1	22	1	0	0	0	0	0	0	0	1	8609	1049	37	1		1	LAMA5	20	60887023	Silent	SNP	G	TCGA-BR-4366-01A-01D-1158-08	4937348	60887023	2138497	154	20582											
TPTE	7179	broad.mit.edu	37	chr21	10906954	10906954	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtcattttctcgccaaaaAgtatctccacggcaaaatct	5	11	4	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr21:10906954A>C	uc002yip.1	-	24	1975	c.1607T>G	c.(1606-1608)CTT>CGT	p.L536R	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.L518R|TPTE_uc002yir.1_Missense_Mutation_p.L498R|TPTE_uc010gkv.1_Missense_Mutation_p.L398R	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	536	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTCGCCAAAAAGTATCTCCAC	0.378													C	10906954	A	C	10906954	3	2	22	1	0	0	0	0	1	0	0	0	16427	72	3	5	52	5	TPTE	21	10906954	Missense_Mutation	SNP	A	TCGA-BR-4366-01A-01D-1158-08		10906954	37222941	155	20583											
DONSON	29980	broad.mit.edu	37	chr21	34957049	34957049	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctctgctggaaggtacaaCggagctcagaggagagtttg	16	7	2	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr21:34957049C>G	uc002ysk.2	-	4	699	c.632G>C	c.(631-633)CGT>CCT	p.R211P	DONSON_uc002ysn.1_Missense_Mutation_p.R94P|DONSON_uc002ysi.1_Intron|DONSON_uc002ysj.2_5'UTR|DONSON_uc002ysl.2_5'UTR|DONSON_uc010gme.2_Missense_Mutation_p.R184P|DONSON_uc002ysm.2_Missense_Mutation_p.R211P	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	211					multicellular organismal development	nucleus				ovary(1)|central_nervous_system(1)	2						GAAGGTACAACGGAGCTCAGA	0.443													G	34957049	C	G	34957049	3	3	22	1	0	0	0	0	1	0	0	0	4706	536	19	5	1096	5	DONSON	21	34957049	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	24050095	34957049	13172846	156	20584											
ELFN2	114794	broad.mit.edu	37	chr22	37769783	37769783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgaaaggaagctgggccGctccagggccccggggccag	18	13	0	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr22:37769783G>A	uc003asq.3	-	3	2578	c.1792C>T	c.(1792-1794)CGG>TGG	p.R598W		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	598	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					AAGCTGGGCCGCTCCAGGGCC	0.711													A	37769783	G	A	37769783	3	1	22	1	0	0	0	0	1	0	0	0	5058	1086	38	1	674	1	ELFN2	22	37769783	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08		37769783	13534783	157	20585											
KCNJ4	3761	broad.mit.edu	37	chr22	38823394	38823394	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaagatgcggtccaggccGatgtcatagcccacgttgag	14	10	1	2			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr22:38823394G>A	uc003avs.1	-	2	841	c.744C>T	c.(742-744)ATC>ATT	p.I248I	KCNJ4_uc003avt.1_Silent_p.I248I	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	248	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					GGTCCAGGCCGATGTCATAGC	0.632													A	38823394	G	A	38823394	2	1	22	1	0	0	0	0	0	0	0	1	8053	1048	37	1		1	KCNJ4	22	38823394	Silent	SNP	G	TCGA-BR-4366-01A-01D-1158-08	1053611	38823394	12481172	158	20586											
EFCAB6	64800	broad.mit.edu	37	chr22	43926804	43926804	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttgggctgaatacgcagcAgagcagagtaaaaagatggc	13	6	0	4			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chr22:43926804A>T	uc003bdy.1	-	31	4489	c.4274T>A	c.(4273-4275)CTG>CAG	p.L1425Q	EFCAB6_uc003bdz.1_Missense_Mutation_p.L1273Q|EFCAB6_uc010gzi.1_Missense_Mutation_p.L1273Q	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1425	Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				AATACGCAGCAGAGCAGAGTA	0.542													T	43926804	A	T	43926804	3	4	22	1	0	0	0	0	1	0	0	0	4939	188	7	5	239	5	EFCAB6	22	43926804	Missense_Mutation	SNP	A	TCGA-BR-4366-01A-01D-1158-08	5103410	43926804	7377762	159	20587											
FRMPD4	9758	broad.mit.edu	37	chrX	12736052	12736052	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caagctggccgatggtgaggGgaaggcaccccctaatggga	16	10	0	1			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chrX:12736052G>C	uc004cuz.1	+	16	3613	c.3107G>C	c.(3106-3108)GGG>GCG	p.G1036A	FRMPD4_uc011mij.1_Missense_Mutation_p.G1028A	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1036					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						GATGGTGAGGGGAAGGCACCC	0.512													C	12736052	G	C	12736052	3	2	22	1	0	0	0	0	1	0	0	0	6059	1232	43	5	3169	5	FRMPD4	23	12736052	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08		12736052	142534508	160	20588											
FANCB	2187	broad.mit.edu	37	chrX	14883234	14883234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccattaaggacccttagGccatccttcatctcatagcc	8	14	2	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chrX:14883234G>A	uc004cwg.1	-	3	667	c.399C>T	c.(397-399)GGC>GGT	p.G133G	FANCB_uc004cwh.1_Silent_p.G133G	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B	133					DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)					GGACCCTTAGGCCATCCTTCA	0.333								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				A	14883234	G	A	14883234	2	1	22	1	0	0	0	0	0	0	0	1	5663	1190	42	2		2	FANCB	23	14883234	Silent	SNP	G	TCGA-BR-4366-01A-01D-1158-08	2147182	14883234	140387326	161	20589											
NHS	4810	broad.mit.edu	37	chrX	17745707	17745707	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaaagaagaaaacaatacaGatctcccttatttagaggaa	6	6	1	4			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chrX:17745707G>A	uc004cxx.2	+	6	3756	c.3418G>A	c.(3418-3420)GAT>AAT	p.D1140N	NHS_uc011mix.1_Missense_Mutation_p.D1161N|NHS_uc004cxy.2_Missense_Mutation_p.D984N|NHS_uc004cxz.2_Missense_Mutation_p.D963N|NHS_uc004cya.2_Missense_Mutation_p.D863N	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	1140						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					AAACAATACAGATCTCCCTTA	0.413													A	17745707	G	A	17745707	3	1	22	1	0	0	0	0	1	0	0	0	10411	942	33	4	3545	4	NHS	23	17745707	Missense_Mutation	SNP	G	TCGA-BR-4366-01A-01D-1158-08	2862473	17745707	137524853	162	20590											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29417401	29417401	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggaggctttgttgtgagaAgaactactgaattaactgtt	11	4	0	3			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chrX:29417401A>C	uc004dby.2	+	5	1187	c.679A>C	c.(679-681)AGA>CGA	p.R227R		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	227	Ig-like C2-type 2.|Extracellular (Potential).				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						TGTTGTGAGAAGAACTACTGA	0.308													C	29417401	A	C	29417401	2	2	22	1	0	0	0	0	0	0	0	1	7661	64	3	5		5	IL1RAPL1	23	29417401	Silent	SNP	A	TCGA-BR-4366-01A-01D-1158-08	11671694	29417401	125853159	163	20591											
MAOA	4128	broad.mit.edu	37	chrX	43603732	43603732	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgccctggggtttgtgctgtAcaaatacaagctcctgccac	10	12	0	0			TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chrX:43603732A>T	uc004dfy.2	+	15	1737	c.1556A>T	c.(1555-1557)TAC>TTC	p.Y519F	MAOA_uc011mkw.1_Missense_Mutation_p.Y386F	NM_000240	NP_000231	P21397	AOFA_HUMAN	monoamine oxidase A	519	Mitochondrial intermembrane.				behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			breast(2)|ovary(1)	3					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	TTTGTGCTGTACAAATACAAG	0.458													T	43603732	A	T	43603732	3	4	22	1	0	0	0	0	1	0	0	0	9225	391	14	5	1614	5	MAOA	23	43603732	Missense_Mutation	SNP	A	TCGA-BR-4366-01A-01D-1158-08	14186331	43603732	111666828	164	20592											
PABPC5	140886	broad.mit.edu	37	chrX	90690690	90690690	+	Missense_Mutation	SNP	C	C	A													gacatgctctataagaagttCaggcctgctggccctctgcg							TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chrX:90690690C>A	uc004efg.2	+	2	554	c.114C>A	c.(112-114)TTC>TTA	p.F38L	PABPC5_uc004eff.1_Intron	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	38	RRM 1.					cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3						ATAAGAAGTTCAGGCCTGCTG	0.562													A	90690690	C	A	90690690	3	1	22	1	0	0	0	0	1	0	0	0	11367	825	29	5	116	5	PABPC5	23	90690690	Missense_Mutation	SNP	C	TCGA-BR-4366-01A-01D-1158-08	47086958	90690690	64579870	165	20593	72	2									
PABPC5	140886	broad.mit.edu	37	chrX	90690691	90690691	+	Missense_Mutation	SNP	A	A	G													acatgctctataagaagttcAggcctgctggccctctgcga							TCGA-BR-4366-01A-01D-1158-08	TCGA-BR-4366-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb78138d-9862-4c8e-ac8f-a5a2a31628cc	993d8925-5c1f-43d2-9000-0f6c8f754710	g.chrX:90690691A>G	uc004efg.2	+	2	555	c.115A>G	c.(115-117)AGG>GGG	p.R39G	PABPC5_uc004eff.1_Intron	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	39	RRM 1.					cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3						TAAGAAGTTCAGGCCTGCTGG	0.567													G	90690691	A	G	90690691	3	3	22	1	0	0	0	0	1	0	0	0	11367	179	7	3	117	3	PABPC5	23	90690691	Missense_Mutation	SNP	A	TCGA-BR-4366-01A-01D-1158-08	1	90690691	64579869	166	20594	72	2									
UBE2J2	118424	broad.mit.edu	37	chr1	1190730	1190730	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgaggtttgggacggcCcccggcgcatgcccgttgag	16	14	0	1	rs139942147		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:1190730C>A	uc001adn.2	-	7	943	c.633G>T	c.(631-633)GGG>GGT	p.G211G	UBE2J2_uc001adm.2_Silent_p.G176G|UBE2J2_uc001ado.2_Silent_p.G227G|UBE2J2_uc001adp.2_Silent_p.G211G|UBE2J2_uc001adq.2_Silent_p.G159G|UBE2J2_uc001adr.2_Silent_p.G159G|UBE2J2_uc001ads.2_Silent_p.G159G	NM_194458	NP_919440	Q8N2K1	UB2J2_HUMAN	ubiquitin conjugating enzyme E2, J2 isoform 3	211	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		TTGGGACGGCCCCCGGCGCAT	0.647													A	1190730	C	A	1190730	2	1	23	1	0	0	0	0	0	0	0	1	16858	610	22	5		5	UBE2J2	1	1190730	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08		1190730	248059891	1	20595											
PRKCZ	5590	broad.mit.edu	37	chr1	2103590	2103590	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaacgtcctcctggatgcGgacgggcacatcaagctcac	11	14	2	0	rs148343947		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:2103590G>A	uc001aiq.2	+	12	1319	c.1158G>A	c.(1156-1158)GCG>GCA	p.A386A	PRKCZ_uc001air.2_Silent_p.A203A|PRKCZ_uc010nyw.1_Silent_p.A282A|PRKCZ_uc001ais.2_Silent_p.A203A|PRKCZ_uc009vla.2_Silent_p.A210A|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc001ait.2_Silent_p.A234A	NM_002744	NP_002735	Q05513	KPCZ_HUMAN	protein kinase C, zeta isoform 1	386	Protein kinase.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(2)	6	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		TCCTGGATGCGGACGGGCACA	0.632													A	2103590	G	A	2103590	2	1	23	1	0	0	0	0	0	0	0	1	12517	1103	39	1		1	PRKCZ	1	2103590	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	912860	2103590	247147031	2	20596											
ACTRT2	140625	broad.mit.edu	37	chr1	2938800	2938800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcagtcaccaagctccacGtggcgggcagggacatcacg	13	14	2	0	rs147956405	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:2938800G>A	uc001ajz.2	+	1	755	c.550G>A	c.(550-552)GTG>ATG	p.V184M		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	184						cytoplasm|cytoskeleton					0	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CAAGCTCCACGTGGCGGGCAG	0.647													A	2938800	G	A	2938800	3	1	23	1	0	0	0	0	1	0	0	0	219	1145	40	1	552	1	ACTRT2	1	2938800	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	835210	2938800	246311821	3	20597											
PRDM16	63976	broad.mit.edu	37	chr1	3319548	3319548	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggactgcgagcggatgttCcccaacaagtacaggtgcca	12	11	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:3319548C>T	uc001akf.2	+	6	950	c.870C>T	c.(868-870)TTC>TTT	p.F290F	PRDM16_uc001akc.2_Silent_p.F290F|PRDM16_uc001akd.2_Silent_p.F290F|PRDM16_uc001ake.2_Silent_p.F290F|PRDM16_uc009vlh.2_5'UTR	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	290	C2H2-type 2.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGCGGATGTTCCCCAACAAGT	0.453			T	EVI1	MDS|AML								T	3319548	C	T	3319548	2	4	23	1	0	0	0	0	0	0	0	1	12457	854	30	4		4	PRDM16	1	3319548	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	380748	3319548	245931073	4	20598											
NPHP4	261734	broad.mit.edu	37	chr1	5933359	5933359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacttccaaggtgacacggCgtccatgcccttctcgttgc	11	14	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:5933359C>T	uc001alq.1	-	23	3534	c.3268G>A	c.(3268-3270)GCC>ACC	p.A1090T		NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	1090					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGACACGGCGTCCATGCCC	0.587													T	5933359	C	T	5933359	3	4	23	1	0	0	0	0	1	0	0	0	10581	768	27	1	1044	1	NPHP4	1	5933359	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2613811	5933359	243317262	5	20599											
CLSTN1	22883	broad.mit.edu	37	chr1	9795564	9795564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtctgcgaattccgggcGtggggaactgccgggagttc	17	9	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:9795564G>A	uc001aqh.2	-	13	2603	c.1844C>T	c.(1843-1845)ACG>ATG	p.T615M	CLSTN1_uc001aqi.2_Missense_Mutation_p.T605M|CLSTN1_uc010oag.1_Missense_Mutation_p.T596M|CLSTN1_uc001aqf.2_5'Flank	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	615	Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		AATTCCGGGCGTGGGGAACTG	0.507													A	9795564	G	A	9795564	3	1	23	1	0	0	0	0	1	0	0	0	3561	1145	40	1	1129	1	CLSTN1	1	9795564	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3862205	9795564	239455057	6	20600											
CLSTN1	22883	broad.mit.edu	37	chr1	9809959	9809959	+	Frame_Shift_Del	DEL	T	T	-													cgtagtttaatttctctgtgTtttttatataaccttacaga							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:9809958_9809958GT>G	uc001aqh.3	-	5	1422	c.663_663AC>C	c.(661-663)aacfs	p.N221fs	CLSTN1_uc001aqi.3_Frame_Shift_Del_p.N211fs|CLSTN1_uc010oag.2_Frame_Shift_Del_p.N221fs	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	221	Cadherin 2.				homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	p.N221fs*5(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		ATTTCTCTGTGTTTTTTATAT	0.403													-	9809959	T	-	9809959	7	5	23	1	0	1	0	1	0	0	0	0	3561	1725	60	0	2339	0	CLSTN1	1	9809959	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	14395	9809959	239440662	7	20601											
CLSTN1	22883	broad.mit.edu	37	chr1	9811549	9811549	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatctttgtcaacagtaaAgggcacgtctggagtgatga	11	8	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:9811549A>G	uc001aqh.2	-	5	1390	c.631T>C	c.(631-633)TTT>CTT	p.F211L	CLSTN1_uc001aqi.2_Missense_Mutation_p.F201L|CLSTN1_uc010oag.1_Missense_Mutation_p.F211L	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	211	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TCAACAGTAAAGGGCACGTCT	0.527													G	9811549	A	G	9811549	3	3	23	1	0	0	0	0	1	0	0	0	3561	72	3	3	2374	3	CLSTN1	1	9811549	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	1590	9811549	239439072	8	20602											
CLSTN1	22883	broad.mit.edu	37	chr1	9833363	9833363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgcatctttatccagcgCgatcagtggggggtcgagga	16	9	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:9833363C>T	uc001aqh.2	-	2	940	c.181G>A	c.(181-183)GCG>ACG	p.A61T	CLSTN1_uc001aqi.2_Missense_Mutation_p.A61T|CLSTN1_uc010oag.1_Missense_Mutation_p.A61T	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	61	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TTATCCAGCGCGATCAGTGGG	0.542													T	9833363	C	T	9833363	3	4	23	1	0	0	0	0	1	0	0	0	3561	768	27	1	2836	1	CLSTN1	1	9833363	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	21814	9833363	239417258	9	20603											
PTCHD2	57540	broad.mit.edu	37	chr1	11589888	11589888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcggcttcaacccctgcGtgaacacgggctgcgggaag	13	14	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:11589888G>A	uc001ash.3	+	15	3112	c.2974G>A	c.(2974-2976)GTG>ATG	p.V992M		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	992	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.V1209M(1)		skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAACCCCTGCGTGAACACGGG	0.642													A	11589888	G	A	11589888	3	1	23	1	0	0	0	0	1	0	0	0	12733	1145	40	1	3028	1	PTCHD2	1	11589888	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1756525	11589888	237660733	10	20604											
MFN2	9927	broad.mit.edu	37	chr1	12061540	12061540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgatcccaggccggggaccGcatcttctttgtgtctgcta	11	13	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:12061540G>A	uc001atn.3	+	9	1352	c.899G>A	c.(898-900)CGC>CAC	p.R300H	MFN2_uc009vni.2_Missense_Mutation_p.R300H	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	300	Cytoplasmic (Potential).				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GCCGGGGACCGCATCTTCTTT	0.567													A	12061540	G	A	12061540	3	1	23	1	0	0	0	0	1	0	0	0	9524	1087	38	1	925	1	MFN2	1	12061540	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	471652	12061540	237189081	11	20605											
PRDM2	7799	broad.mit.edu	37	chr1	14106911	14106911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcattcagtgcagcctaCgtgtagtgctgtaaagaaaa	10	7	2	1	rs145695645		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:14106911C>T	uc001avi.2	+	8	3477	c.2621C>T	c.(2620-2622)ACG>ATG	p.T874M	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.T874M|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.T673M|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	874						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GTGCAGCCTACGTGTAGTGCT	0.428													T	14106911	C	T	14106911	3	4	23	1	0	0	0	0	1	0	0	0	12458	536	19	1	2647	1	PRDM2	1	14106911	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2045371	14106911	235143710	12	20606											
TMEM51	55092	broad.mit.edu	37	chr1	15546202	15546202	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccaccgcagtatgatgaagTccaggagaaggcccccgaca	11	13	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:15546202T>A	uc001avw.3	+	4	1244	c.725T>A	c.(724-726)GTC>GAC	p.V242D	TMEM51_uc010obk.1_Missense_Mutation_p.V242D|TMEM51_uc001avz.2_3'UTR|TMEM51_uc001avy.2_Missense_Mutation_p.V242D|TMEM51_uc001avx.2_Missense_Mutation_p.V242D	NM_001136216	NP_001129688	Q9NW97	TMM51_HUMAN	transmembrane protein 51	242						integral to membrane					0		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		TATGATGAAGTCCAGGAGAAG	0.562													A	15546202	T	A	15546202	3	1	23	1	0	0	0	0	1	0	0	0	16174	1667	58	5	731	5	TMEM51	1	15546202	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	1439291	15546202	233704419	13	20607											
SPEN	23013	broad.mit.edu	37	chr1	16261327	16261327	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgattctgtcacagcatcGcagcctccatccaaaggccc	7	17	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:16261327G>A	uc001axk.1	+	11	8796	c.8592G>A	c.(8590-8592)TCG>TCA	p.S2864S	SPEN_uc010obp.1_Silent_p.S2823S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2864	Interaction with RBPSUH (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCACAGCATCGCAGCCTCCAT	0.562													A	16261327	G	A	16261327	2	1	23	1	0	0	0	0	0	0	0	1	15037	1074	38	1		1	SPEN	1	16261327	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	715125	16261327	232989294	14	20608											
NECAP2	55707	broad.mit.edu	37	chr1	16774560	16774560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgttgttccccagggcgaCgggcgtttattggaattggc	15	8	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:16774560C>T	uc001ayo.2	+	4	394	c.304C>T	c.(304-306)CGG>TGG	p.R102W	NECAP2_uc001ayp.3_RNA|NECAP2_uc010ocd.1_Missense_Mutation_p.R76W|NECAP2_uc001ayq.2_Missense_Mutation_p.R102W	NM_018090	NP_060560	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2 isoform 1	102					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane					0		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGGGCGACGGGCGTTTAT	0.527													T	16774560	C	T	16774560	3	4	23	1	0	0	0	0	1	0	0	0	10308	527	19	1	318	1	NECAP2	1	16774560	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	513233	16774560	232476061	15	20609											
UBR4	23352	broad.mit.edu	37	chr1	19465685	19465685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagaaccatctgtcgctgCtgtactgccctcgtcgtctg	11	13	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:19465685C>T	uc001bbi.2	-	59	8627	c.8623G>A	c.(8623-8625)GCA>ACA	p.A2875T	UBR4_uc001bbk.1_Missense_Mutation_p.A522T	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2875					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTGTCGCTGCTGTACTGCCC	0.483													T	19465685	C	T	19465685	3	4	23	1	0	0	0	0	1	0	0	0	16901	797	28	2	7120	2	UBR4	1	19465685	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2691125	19465685	229784936	16	20610											
HNRNPR	10236	broad.mit.edu	37	chr1	23640194	23640194	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcacaaacaaaacttttAcctagtaagcaacaaataaa	2	9	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:23640194A>G	uc001bgr.3	-	9	1178	c.1019T>C	c.(1018-1020)GTA>GCA	p.V340A	HNRNPR_uc001bgo.2_5'Flank|HNRNPR_uc001bgp.3_Missense_Mutation_p.V343A|HNRNPR_uc009vqk.2_Missense_Mutation_p.V242A|HNRNPR_uc001bgs.3_Missense_Mutation_p.V239A|HNRNPR_uc010odw.1_Missense_Mutation_p.V302A|HNRNPR_uc010odx.1_Missense_Mutation_p.V180A|HNRNPR_uc009vql.2_Missense_Mutation_p.V201A	NM_005826	NP_005817	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	340						catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CAAAACTTTTACCTAGTAAGC	0.338													G	23640194	A	G	23640194	3	3	23	1	0	0	0	0	1	0	0	0	7272	405	14	3	894	3	HNRNPR	1	23640194	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	4174509	23640194	225610427	17	20611											
MYOM3	127294	broad.mit.edu	37	chr1	24416564	24416564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccgcgtaccttcaaaagCgtctgtgctgatggtgatct	10	11	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:24416564C>T	uc001bin.3	-	13	1640	c.1477G>A	c.(1477-1479)GCT>ACT	p.A493T	MYOM3_uc001bim.3_Missense_Mutation_p.A150T|MYOM3_uc001bio.2_Missense_Mutation_p.A493T|MYOM3_uc001bip.1_Missense_Mutation_p.A150T	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	493										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CCTTCAAAAGCGTCTGTGCTG	0.552													T	24416564	C	T	24416564	3	4	23	1	0	0	0	0	1	0	0	0	10093	768	27	1	2936	1	MYOM3	1	24416564	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	776370	24416564	224834057	18	20612											
IL22RA1	58985	broad.mit.edu	37	chr1	24447935	24447935	+	Frame_Shift_Del	DEL	G	G	-													tcacctgaggtgcataggatGggggcccgacctcaggggca							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:24447934_24447934TG>T	uc001biq.2	-	6	1289	c.1086_1086CA>A	c.(1084-1086)ccafs	p.P362fs	IL22RA1_uc010oeg.1_Frame_Shift_Del_p.P294fs|IL22RA1_uc009vrb.2_Frame_Shift_Del_p.P226fs|IL22RA1_uc010oeh.2_Frame_Shift_Del_p.P362fs	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	362						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GTGCATAGGATGGGGGCCCGA	0.617													-	24447935	G	-	24447935	7	5	23	1	0	1	0	1	0	0	0	0	7673	1348	47	0	643	0	IL22RA1	1	24447935	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	31371	24447935	224802686	19	20613											
GRHL3	57822	broad.mit.edu	37	chr1	24664149	24664150	+	Frame_Shift_Ins	INS	-	-	C													tttgaatacaccctgggctcINSccccaaagccatccacatca							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:24664148_24664149T>TC	uc021oiw.1	+	5	939_940	c.709_710T>TC	c.(709-711)tccfs	p.S237fs	GRHL3_uc001bix.3_Frame_Shift_Ins_p.S237fs|GRHL3_uc021oix.1_Frame_Shift_Ins_p.S191fs|GRHL3_uc001biy.3_Frame_Shift_Ins_p.S242fs|GRHL3_uc001biz.3_Frame_Shift_Ins_p.S144fs	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	237					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CACCCTGGGCTCCCCCAAAGCC	0.614													C	24664150	-	C	24664149	7	5	23	1	0	1	1	0	0	0	0	0	6765	855	30	0	768	0	GRHL3	1	24664149	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	216214	24664149	224586472	20	20614											
ARID1A	8289	broad.mit.edu	37	chr1	27057709	27057710	+	Frame_Shift_Ins	INS	-	-	A													ccagactccatattacaaccINSagcaaagtcctcaccctcag							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:27057708_27057709C>CA	uc001bmv.1	+	2	1789_1790	c.1416_1417C>CA	c.(1414-1419)aaccagfs	p.N472fs	ARID1A_uc001bmt.1_Frame_Shift_Ins_p.N472fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.N472fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.N89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	472					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATATTACAACCAGCAAAGTCC	0.535			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								A	27057710	-	A	27057709	7	5	23	1	0	1	1	0	0	0	0	0	913	595	21	0	1427	0	ARID1A	1	27057709	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	2393560	27057709	222192912	21	20615											
EPB41	2035	broad.mit.edu	37	chr1	29342251	29342251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaagttttatccacctgacCcagcacagttaacagaagac	6	11	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:29342251C>T	uc001brm.1	+	5	884	c.877C>T	c.(877-879)CCA>TCA	p.P293S	EPB41_uc001brg.1_Missense_Mutation_p.P84S|EPB41_uc001brh.1_Missense_Mutation_p.P84S|EPB41_uc001bri.1_Missense_Mutation_p.P258S|EPB41_uc001brj.1_Missense_Mutation_p.P84S|EPB41_uc009vtk.1_Missense_Mutation_p.P258S|EPB41_uc001brk.2_Missense_Mutation_p.P293S|EPB41_uc001brl.1_Missense_Mutation_p.P293S|EPB41_uc009vtl.1_Missense_Mutation_p.P84S|EPB41_uc009vtm.1_5'UTR	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	293	FERM.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			ovary(1)	1		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TCCACCTGACCCAGCACAGTT	0.274													T	29342251	C	T	29342251	3	4	23	1	0	0	0	0	1	0	0	0	5151	623	22	4	895	4	EPB41	1	29342251	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2284542	29342251	219908370	22	20616											
SERINC2	347735	broad.mit.edu	37	chr1	31899504	31899506	+	In_Frame_Del	DEL	TCT	TCT	-													ctacccctctggcccaggccTcttcttcttcactctcctct							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:31899503_31899505CTCT>C	uc021okm.1	+	6	913_915	c.640_642CTCT>C	c.(640-642)ctc>C	p.L214del	SERINC2_uc010ogg.2_In_Frame_Del_p.L209del|SERINC2_uc001bst.3_In_Frame_Del_p.L205del|SERINC2_uc001bsu.3_In_Frame_Del_p.L150del|SERINC2_uc010ogh.2_In_Frame_Del_p.L209del	NM_001199038	NP_001185967	Q96SA4	SERC2_HUMAN	Homo sapiens serine incorporator 2 (SERINC2), transcript variant 4, mRNA.	205						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TGGCCCAGGCCTCTTCTTCTTCA	0.621													-	31899506	TCT	-	31899504	7	5	23	1	0	1	0	1	0	0	0	0	14080	1551	54	0	636	0	SERINC2	1	31899504	In_Frame_Del	DEL	TCT	TCGA-BR-4368-01A-01D-1158-08	2557253	31899504	217351117	23	20617											
PEF1	553115	broad.mit.edu	37	chr1	32096261	32096261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgaagtcctcgaagctgaGccgaatgttgccttgtacag	12	10	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:32096261G>A	uc001bth.1	-	5	820	c.808C>T	c.(808-810)CTC>TTC	p.L270F	HCRTR1_uc010ogl.1_Intron|PEF1_uc001bte.1_3'UTR|PEF1_uc001btf.1_Missense_Mutation_p.L109F|PEF1_uc001btg.1_Missense_Mutation_p.L200F	NM_012392	NP_036524	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	270	EF-hand 5.|Required for interaction with PDCD6.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity				0		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		TCGAAGCTGAGCCGAATGTTG	0.567													A	32096261	G	A	32096261	3	1	23	1	0	0	0	0	1	0	0	0	11718	971	34	2	50	2	PEF1	1	32096261	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	196757	32096261	217154360	24	20618											
COL16A1	1307	broad.mit.edu	37	chr1	32164183	32164183	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaccagggcaaactcctcCgggagaccccgagggaatac	12	14	0	1	rs76478494	by1000genomes	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:32164183C>T	uc001btk.1	-	5	656	c.291G>A	c.(289-291)CCG>CCA	p.P97P	COL16A1_uc001btj.1_5'UTR|COL16A1_uc001btl.3_Silent_p.P97P	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	97	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CAAACTCCTCCGGGAGACCCC	0.567													T	32164183	C	T	32164183	2	4	23	1	0	0	0	0	0	0	0	1	3673	639	23	1		1	COL16A1	1	32164183	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	67922	32164183	217086438	25	20619											
BAI2	576	broad.mit.edu	37	chr1	32205538	32205538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttctacctagattatctGtgacaatcagagagctctgg	8	10	4	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:32205538G>A	uc001btn.2	-	14	2510	c.2156C>T	c.(2155-2157)ACA>ATA	p.T719I	BAI2_uc010ogo.1_Missense_Mutation_p.T361I|BAI2_uc010ogp.1_Missense_Mutation_p.T652I|BAI2_uc010ogq.1_Missense_Mutation_p.T719I|BAI2_uc001bto.2_Missense_Mutation_p.T719I|BAI2_uc001btq.1_Missense_Mutation_p.T652I|BAI2_uc010ogr.1_Silent_p.H528H	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	719	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TAGATTATCTGTGACAATCAG	0.537													A	32205538	G	A	32205538	3	1	23	1	0	0	0	0	1	0	0	0	1299	1377	48	4	2681	4	BAI2	1	32205538	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	41355	32205538	217045083	26	20620											
MARCKSL1	65108	broad.mit.edu	37	chr1	32800540	32800540	+	Frame_Shift_Del	DEL	G	G	-													ttcttcttgggggtctccttGggggggacctcccccttggc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:32800539_32800539TG>T	uc001bvd.3	-	1	447	c.247_247CA>A	c.(247-249)aagfs	p.K83fs		NM_023009	NP_075385	P49006	MRP_HUMAN	Homo sapiens MARCKS-like 1 (MARCKSL1), mRNA.	83						plasma membrane	calmodulin binding	p.K83fs*33(4)		breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGGGTCTCCTTGGGGGGGACC	0.587													-	32800540	G	-	32800540	7	5	23	1	0	1	0	1	0	0	0	0	9310	1335	47	0	345	0	MARCKSL1	1	32800540	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	595002	32800540	216450081	27	20621											
GJB5	2709	broad.mit.edu	37	chr1	35223699	35223700	+	In_Frame_Ins	INS	-	-	TCC													ttctgggctcagacagtcatINScctcctctcttaccagaccg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:35223698_35223699A>ATCC	uc001bxu.3	+	1	867_868	c.767_768A>ATCC	c.(766-768)cat>cATCC	p.H256H	GJB5_uc021okz.1_In_Frame_Ins_p.H256H|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	256					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TCAGACAGTCATCCTCCTCTCT	0.584													TCC	35223700	-	TCC	35223699	7	5	23	1	0	1	1	0	0	0	0	0	6411	1432	50	0	770	0	GJB5	1	35223699	In_Frame_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	2423159	35223699	214026922	28	20622											
ZMYM4	9202	broad.mit.edu	37	chr1	35836080	35836080	+	Frame_Shift_Del	DEL	A	A	-													gagtttcctgttctggttgtAaaaaaatcctccagaagggg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:35836079_35836079TA>T	uc001byt.3	+	6	1112	c.1032_1032TA>T	c.(1030-1032)tgtfs	p.C344fs	ZMYM4_uc009vuu.3_Frame_Shift_Del_p.C312fs|ZMYM4_uc001byu.3_Frame_Shift_Del_p.C20fs|ZMYM4_uc009vuv.3_Frame_Shift_Del_p.C83fs|AF119915_uc001byv.2_5'Flank	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	344					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTTCTGGTTGTAAAAAAATCC	0.478													-	35836080	A	-	35836080	7	5	23	1	0	1	0	1	0	0	0	0	17699	363	13	0	1059	0	ZMYM4	1	35836080	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	612381	35836080	213414541	29	20623											
NCDN	23154	broad.mit.edu	37	chr1	36030950	36030950	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctagccctgtcccctgagTatgagggcatctgggccgac	13	13	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:36030950T>C	uc001bza.2	+	8	2003	c.1876T>C	c.(1876-1878)TAT>CAT	p.Y626H	NCDN_uc001bzb.2_Missense_Mutation_p.Y626H|NCDN_uc001bzc.2_Missense_Mutation_p.Y609H	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	626					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTCCCCTGAGTATGAGGGCAT	0.677													C	36030950	T	C	36030950	3	2	23	1	0	0	0	0	1	0	0	0	10214	1638	57	3	1902	3	NCDN	1	36030950	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	194870	36030950	213219671	30	20624											
MEAF6	64769	broad.mit.edu	37	chr1	37961520	37961520	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttaacttcagatcaatcCtgtgacagaaaagataaaag	7	6	2	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:37961520C>T	uc001cbg.1	-	6	551	c.534_splice	c.e6-1	p.R178_splice	MEAF6_uc001cbd.1_Splice_Site_p.R156_splice|MEAF6_uc001cbe.1_Splice_Site_p.E188_splice|MEAF6_uc009vvd.1_Splice_Site|MEAF6_uc001cbf.1_Splice_Site|MEAF6_uc001cbh.1_Intron	NM_022756	NP_073593	Q9HAF1	EAF6_HUMAN	MYST/Esa1-associated factor 6						histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus	protein binding				0						CAGATCAATCCTGTGACAGAA	0.358													T	37961520	C	T	37961520	5	4	23	1	0	0	0	0	0	0	1	0	9421	695	24	4	50	4	MEAF6	1	37961520	Splice_Site	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1930570	37961520	211289101	31	20625											
GNL2	29889	broad.mit.edu	37	chr1	38059433	38059433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcatgttttggcctcctgCtccctgcactcgatctacaa	6	16	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:38059433C>T	uc001cbk.2	-	2	242	c.79G>A	c.(79-81)GCA>ACA	p.A27T	GNL2_uc010oif.1_5'UTR|GNL2_uc009vve.2_Missense_Mutation_p.A27T	NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	27					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)				TGGCCTCCTGCTCCCTGCACT	0.483													T	38059433	C	T	38059433	3	4	23	1	0	0	0	0	1	0	0	0	6536	797	28	2	2176	2	GNL2	1	38059433	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	97913	38059433	211191188	32	20626											
UTP11L	51118	broad.mit.edu	37	chr1	38484942	38484942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagttgaacagtttgatgtcGcaactcacctgcaaacagcc	8	11	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:38484942G>A	uc001ccn.3	+	6	545	c.454G>A	c.(454-456)GCA>ACA	p.A152T	UTP11L_uc009vvm.2_Missense_Mutation_p.A83T|UTP11L_uc010oil.1_Intron|UTP11L_uc001cco.3_Missense_Mutation_p.A83T	NM_016037	NP_057121	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar	152					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTTTGATGTCGCAACTCACCT	0.448													A	38484942	G	A	38484942	3	1	23	1	0	0	0	0	1	0	0	0	17091	1087	38	1	476	1	UTP11L	1	38484942	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	425509	38484942	210765679	33	20627											
SMAP2	64744	broad.mit.edu	37	chr1	40872413	40872413	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgactttcacagggccgCgatgggcctcttggaacatt	11	12	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:40872413C>T	uc001cfj.2	+	2	174	c.109C>T	c.(109-111)CGA>TGA	p.R37*	SMAP2_uc010ojh.1_Nonsense_Mutation_p.R37*|SMAP2_uc001cfk.2_Nonsense_Mutation_p.R7*|SMAP2_uc010oji.1_5'UTR	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	37	C4-type.|Arf-GAP.				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			CACAGGGCCGCGATGGGCCTC	0.433													T	40872413	C	T	40872413	4	4	23	1	0	0	0	0	0	1	0	0	14767	760	27	1	115	1	SMAP2	1	40872413	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2387471	40872413	208378208	34	20628											
SMAP2	64744	broad.mit.edu	37	chr1	40874380	40874380	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actttatgaagcctatcttcCtgagacctttcggcgacctc	7	13	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:40874380C>A	uc001cfj.2	+	3	358	c.293C>A	c.(292-294)CCT>CAT	p.P98H	SMAP2_uc010ojh.1_Missense_Mutation_p.P98H|SMAP2_uc001cfk.2_Missense_Mutation_p.P68H|SMAP2_uc010oji.1_Missense_Mutation_p.P15H	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	98	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			GCCTATCTTCCTGAGACCTTT	0.458													A	40874380	C	A	40874380	3	1	23	1	0	0	0	0	1	0	0	0	14767	681	24	5	303	5	SMAP2	1	40874380	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1967	40874380	208376241	35	20629											
FOXJ3	22887	broad.mit.edu	37	chr1	42693608	42693608	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaggcagcacatcttccttCggattggtgtctattgccca	10	11	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:42693608C>T	uc001che.2	-	7	786	c.474G>A	c.(472-474)CCG>CCA	p.P158P	FOXJ3_uc001chf.2_Silent_p.P158P|FOXJ3_uc001chg.2_Silent_p.P158P|FOXJ3_uc001chh.1_Silent_p.P158P	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	158	Fork-head.				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)	2	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CATCTTCCTTCGGATTGGTGT	0.373													T	42693608	C	T	42693608	2	4	23	1	0	0	0	0	0	0	0	1	6013	871	31	1		1	FOXJ3	1	42693608	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1819228	42693608	206557013	36	20630											
SLC2A1	6513	broad.mit.edu	37	chr1	43396302	43396302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccccagcttacctgggCgatgaggatgccgacgacga	13	14	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:43396302C>T	uc001cik.2	-	4	1036	c.511G>A	c.(511-513)GCC>ACC	p.A171T		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	171	Helical; Name=5; (Potential).				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CTTACCTGGGCGATGAGGATG	0.642													T	43396302	C	T	43396302	3	4	23	1	0	0	0	0	1	0	0	0	14538	768	27	1	995	1	SLC2A1	1	43396302	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	702694	43396302	205854319	37	20631											
TIE1	7075	broad.mit.edu	37	chr1	43779013	43779013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtggcctcaacgccagcaCgcgctacctcttccgcatgc	9	19	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:43779013C>T	uc001ciu.2	+	13	2214	c.2135C>T	c.(2134-2136)ACG>ATG	p.T712M	TIE1_uc010okd.1_Missense_Mutation_p.T712M|TIE1_uc010oke.1_Missense_Mutation_p.T667M|TIE1_uc009vwq.2_Missense_Mutation_p.T668M|TIE1_uc010okf.1_Missense_Mutation_p.T357M|TIE1_uc010okg.1_Missense_Mutation_p.T357M	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	712	Fibronectin type-III 3.|Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AACGCCAGCACGCGCTACCTC	0.647													T	43779013	C	T	43779013	3	4	23	1	0	0	0	0	1	0	0	0	15890	536	19	1	2185	1	TIE1	1	43779013	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	382711	43779013	205471608	38	20632											
SLC6A9	6536	broad.mit.edu	37	chr1	44476464	44476464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcccacggcatagcccaCgctcgtcagtacaaactcga	9	16	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:44476464C>T	uc001cll.2	-	3	532	c.340G>A	c.(340-342)GTG>ATG	p.V114M	SLC6A9_uc009vxe.2_Translation_Start_Site|SLC6A9_uc010okm.1_Missense_Mutation_p.V41M|SLC6A9_uc001clm.2_Missense_Mutation_p.V60M|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.V60M|SLC6A9_uc001cln.2_Missense_Mutation_p.V41M|SLC6A9_uc010oko.1_Intron|SLC6A9_uc010okp.1_Intron	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	114	Helical; Name=1; (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCATAGCCCACGCTCGTCAGT	0.627													T	44476464	C	T	44476464	3	4	23	1	0	0	0	0	1	0	0	0	14691	536	19	1	1828	1	SLC6A9	1	44476464	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	697451	44476464	204774157	39	20633											
EIF2B3	8891	broad.mit.edu	37	chr1	45407285	45407285	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctaaacaggtccacaaccTcatgtaaggcaacgtctgtt	7	12	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:45407285T>G	uc001cmt.1	-	4	474	c.347A>C	c.(346-348)GAG>GCG	p.E116A	EIF2B3_uc001cmu.1_Missense_Mutation_p.E116A|EIF2B3_uc001cmv.1_Missense_Mutation_p.E116A|EIF2B3_uc001cmw.2_Missense_Mutation_p.E116A	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B,	116					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GTCCACAACCTCATGTAAGGC	0.418													G	45407285	T	G	45407285	3	3	23	1	0	0	0	0	1	0	0	0	5002	1551	54	5	1084	5	EIF2B3	1	45407285	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	930821	45407285	203843336	40	20634											
HECTD3	79654	broad.mit.edu	37	chr1	45473964	45473964	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaggcaggtaccaggtggTgcaggacactatcgaggatc	14	11	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:45473964T>C	uc009vxk.2	-	9	1366	c.1268A>G	c.(1267-1269)CAC>CGC	p.H423R	HECTD3_uc001cmx.3_5'Flank|HECTD3_uc001cmy.3_Missense_Mutation_p.H33R|HECTD3_uc010olh.1_Missense_Mutation_p.H139R	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	423					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)					TACCAGGTGGTGCAGGACACT	0.527													C	45473964	T	C	45473964	3	2	23	1	0	0	0	0	1	0	0	0	7041	1696	59	3	1369	3	HECTD3	1	45473964	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	66679	45473964	203776657	41	20635											
CYP4B1	1580	broad.mit.edu	37	chr1	47283696	47283696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtgctgtatggcccgacCctgaggtaccctttccctgg	11	14	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:47283696C>T	uc001cqm.3	+	10	1348	c.1264C>T	c.(1264-1266)CCT>TCT	p.P422S	CYP4B1_uc001cqn.3_Missense_Mutation_p.P423S|CYP4B1_uc009vym.2_Missense_Mutation_p.P408S|CYP4B1_uc010omk.1_Missense_Mutation_p.P259S	NM_000779	NP_000770	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	422					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					ATGGCCCGACCCTGAGGTACC	0.582													T	47283696	C	T	47283696	3	4	23	1	0	0	0	0	1	0	0	0	4185	623	22	4	1305	4	CYP4B1	1	47283696	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1809732	47283696	201966925	42	20636											
PODN	127435	broad.mit.edu	37	chr1	53547667	53547667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacaggtttaacaagctggCtgtgggctccgtggtggaca	14	9	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:53547667C>T	uc001cuv.2	+	10	1827	c.1820C>T	c.(1819-1821)GCT>GTT	p.A607V	PODN_uc001cuw.2_Missense_Mutation_p.A588V|PODN_uc010onr.1_Missense_Mutation_p.A588V|PODN_uc010ons.1_Missense_Mutation_p.A465V	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	559	LRR 19.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2						AACAAGCTGGCTGTGGGCTCC	0.572													T	53547667	C	T	53547667	3	4	23	1	0	0	0	0	1	0	0	0	12178	797	28	2	1858	2	PODN	1	53547667	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	6263971	53547667	195702954	43	20637											
SLC1A7	6512	broad.mit.edu	37	chr1	53580635	53580635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatccagggaggcaagtcCggacatcaagctgggagggc	17	10	1	0	rs146594134		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:53580635C>T	uc001cuy.2	-	3	394	c.226G>A	c.(226-228)GGA>AGA	p.G76R	SLC1A7_uc001cuz.3_Missense_Mutation_p.G76R|uc001cva.1_RNA	NM_006671	NP_006662	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter),	76	Helical; (Potential).					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			ovary(2)|large_intestine(1)	3				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GAGGCAAGTCCGGACATCAAG	0.657													T	53580635	C	T	53580635	3	4	23	1	0	0	0	0	1	0	0	0	14437	661	23	1	1492	1	SLC1A7	1	53580635	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	32968	53580635	195669986	44	20638											
LRP8	7804	broad.mit.edu	37	chr1	53727864	53727864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtctacccagtacaagCgctggctcagcagatcttgg	12	11	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:53727864C>T	uc001cvi.1	-	12	1932	c.1790G>A	c.(1789-1791)CGC>CAC	p.R597H	LRP8_uc001cvh.1_Missense_Mutation_p.R150H|LRP8_uc001cvk.1_Missense_Mutation_p.R427H|LRP8_uc001cvj.1_Missense_Mutation_p.R597H|LRP8_uc001cvl.1_Missense_Mutation_p.R468H|LRP8_uc001cvm.1_Missense_Mutation_p.R182H	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	597	LDL-receptor class B 4.|Extracellular (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0						CCAGTACAAGCGCTGGCTCAG	0.542													T	53727864	C	T	53727864	3	4	23	1	0	0	0	0	1	0	0	0	8963	768	27	1	1133	1	LRP8	1	53727864	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	147229	53727864	195522757	45	20639											
TMEM61	199964	broad.mit.edu	37	chr1	55457572	55457572	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcttcccagtggccgagggGcccccaacaccacctgcata	10	17	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:55457572G>C	uc001cyd.2	+	3	703	c.429G>C	c.(427-429)GGG>GGC	p.G143G		NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	143						integral to membrane					0						TGGCCGAGGGGCCCCCAACAC	0.642													C	55457572	G	C	55457572	2	2	23	1	0	0	0	0	0	0	0	1	16185	1190	42	5		5	TMEM61	1	55457572	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1729708	55457572	193793049	46	20640											
BSND	7809	broad.mit.edu	37	chr1	55472853	55472853	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggagaaggtggccctggCgacgttcaggcctggatgga	19	8	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:55472853C>T	uc001cye.2	+	3	699	c.456C>T	c.(454-456)GGC>GGT	p.G152G		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	barttin	152	Cytoplasmic (Potential).					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				ovary(1)|skin(1)	2						GTGGCCCTGGCGACGTTCAGG	0.617													T	55472853	C	T	55472853	2	4	23	1	0	0	0	0	0	0	0	1	1531	755	27	1		1	BSND	1	55472853	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	15281	55472853	193777768	47	20641											
PGM1	5236	broad.mit.edu	37	chr1	64059334	64059334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggaggccacgctggtgGtgggcggggacggccggttc	22	10	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:64059334G>A	uc001dbh.2	+	1	388	c.175G>A	c.(175-177)GTG>ATG	p.V59M	PGM1_uc010ooy.1_5'Flank	NM_002633	NP_002624	P36871	PGM1_HUMAN	phosphoglucomutase 1	59					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			ovary(2)|kidney(1)	3						CACGCTGGTGGTGGGCGGGGA	0.667													A	64059334	G	A	64059334	3	1	23	1	0	0	0	0	1	0	0	0	11797	1261	44	4	177	4	PGM1	1	64059334	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	8586481	64059334	185191287	48	20642											
SGIP1	84251	broad.mit.edu	37	chr1	67147821	67147821	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggtcccacaggccccccaGggcctcctgggcctcctcgc	11	21	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:67147821G>T	uc001dcr.2	+	15	1301	c.1084G>T	c.(1084-1086)GGG>TGG	p.G362W	SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.G129W	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	362	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						AGGCCCCCCAGGGCCTCCTGG	0.567													T	67147821	G	T	67147821	3	4	23	1	0	0	0	0	1	0	0	0	14206	1000	35	5	1142	5	SGIP1	1	67147821	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3088487	67147821	182102800	49	20643											
SERBP1	26135	broad.mit.edu	37	chr1	67891817	67891817	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaaaacaagaaacaacttaCctatcaactgaaaattcgcc	3	11	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:67891817C>A	uc001ddv.2	-	2	604	c.464_splice	c.e2+1	p.R155_splice	SERBP1_uc001ddx.2_Splice_Site_p.R155_splice|SERBP1_uc001ddy.2_Splice_Site_p.R155_splice|SERBP1_uc001ddw.2_Splice_Site_p.R155_splice	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1 isoform 1						regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			skin(1)	1						aaaCAACTTACCTATCAACTG	0.224													A	67891817	C	A	67891817	5	1	23	1	0	0	0	0	0	0	1	0	14075	521	18	5	789	5	SERBP1	1	67891817	Splice_Site	SNP	C	TCGA-BR-4368-01A-01D-1158-08	743996	67891817	181358804	50	20644											
GNG12	55970	broad.mit.edu	37	chr1	68171151	68171151	+	Frame_Shift_Del	DEL	T	T	-													ccactataagatgatgcaagTttttttatccttgaaagggt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:68171150_68171150GT>G	uc001dea.2	-	3	408	c.203_203AC>C	c.(202-204)actfs	p.T68fs		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 12 (GNG12), mRNA.	68					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						GATGATGCAAGTTTTTTTATC	0.433													-	68171151	T	-	68171151	7	5	23	1	0	1	0	1	0	0	0	0	6525	1725	60	0	20	0	GNG12	1	68171151	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	279334	68171151	181079470	51	20645											
LRRC7	57554	broad.mit.edu	37	chr1	70504040	70504040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcacatcttcgcatggaCgcaggcctttgatcaggcaa	11	11	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:70504040C>T	uc001dep.2	+	19	2449	c.2419C>T	c.(2419-2421)CGC>TGC	p.R807C	LRRC7_uc009wbg.2_Missense_Mutation_p.R91C|LRRC7_uc001deq.2_Missense_Mutation_p.R48C	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	807						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TTCGCATGGACGCAGGCCTTT	0.483													T	70504040	C	T	70504040	3	4	23	1	0	0	0	0	1	0	0	0	9020	536	19	1	2493	1	LRRC7	1	70504040	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2332889	70504040	178746581	52	20646											
LHX8	431707	broad.mit.edu	37	chr1	75622692	75622692	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgtctccacccatgttagaaGaaatggcttattctgcctac	7	11	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:75622692G>C	uc001dgo.2	+	9	1589	c.925G>C	c.(925-927)GAA>CAA	p.E309Q	LHX8_uc001dgq.2_Missense_Mutation_p.E248Q	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	LIM homeobox 8	309						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CATGTTAGAAGAAATGGCTTA	0.498													C	75622692	G	C	75622692	3	2	23	1	0	0	0	0	1	0	0	0	8776	943	33	5	955	5	LHX8	1	75622692	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	5118652	75622692	173627929	53	20647											
USP33	23032	broad.mit.edu	37	chr1	78187594	78187594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccaaaaccagctagggaCacatgagacaacaaacctga	7	13	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:78187594C>T	uc001dht.2	-	15	2019	c.1672G>A	c.(1672-1674)GTC>ATC	p.V558I	USP33_uc001dhs.2_Missense_Mutation_p.V279I|USP33_uc001dhu.2_Missense_Mutation_p.V527I|USP33_uc001dhv.2_Missense_Mutation_p.V363I|USP33_uc001dhw.2_Intron	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	558					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3						CAGCTAGGGACACATGAGACA	0.383													T	78187594	C	T	78187594	3	4	23	1	0	0	0	0	1	0	0	0	17061	478	17	4	1212	4	USP33	1	78187594	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2564902	78187594	171063027	54	20648											
USP33	23032	broad.mit.edu	37	chr1	78205026	78205027	+	Frame_Shift_Ins	INS	-	-	A													agttcctaatttcctatccaINSaaaatacttctttgctgcaa							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:78205025_78205026C>CA	uc001dht.3	-	5	715_716	c.368_369G>TG	c.(367-369)ttgfs	p.L123fs	USP33_uc001dhu.3_Frame_Shift_Ins_p.L92fs|USP33_uc001dhv.3_5'UTR|USP33_uc001dhw.3_Frame_Shift_Ins_p.L123fs	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	123					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ATTTCCTATCCAAAAATACTTC	0.376													A	78205027	-	A	78205026	7	5	23	1	0	1	1	0	0	0	0	0	17061	131	5	0	2552	0	USP33	1	78205026	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	17432	78205026	171045595	55	20649											
LPAR3	23566	broad.mit.edu	37	chr1	85279838	85279838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaccaggcccggggtccaGcataccacaaacgcccctgc	9	19	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:85279838G>A	uc001dkl.2	-	2	792	c.753C>T	c.(751-753)TGC>TGT	p.C251C	LPAR3_uc009wcj.1_Silent_p.C251C	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	251	Helical; Name=6; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				lung(3)|ovary(2)	5						CCGGGGTCCAGCATACCACAA	0.577													A	85279838	G	A	85279838	2	1	23	1	0	0	0	0	0	0	0	1	8906	963	34	2		2	LPAR3	1	85279838	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	7074812	85279838	163970783	56	20650											
GBP5	115362	broad.mit.edu	37	chr1	89733134	89733134	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaccctgatcaattttgtTcacagtattgtacacaaagg	7	9	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:89733134T>C	uc001dnc.2	-	5	931	c.394A>G	c.(394-396)AAC>GAC	p.N132D	GBP5_uc001dnd.2_Missense_Mutation_p.N132D|GBP5_uc001dne.1_Missense_Mutation_p.N132D	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	132						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)		TCAATTTTGTTCACAGTATTG	0.438													C	89733134	T	C	89733134	3	2	23	1	0	0	0	0	1	0	0	0	6277	1783	62	3	1398	3	GBP5	1	89733134	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	4453296	89733134	159517487	57	20651											
LRRC8C	84230	broad.mit.edu	37	chr1	90178423	90178423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcactgtggaaatgaaaggCctgaagacagatttggacct	11	7	1	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:90178423C>T	uc001dnl.3	+	3	536	c.294C>T	c.(292-294)GGC>GGT	p.G98G		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member	98						endoplasmic reticulum membrane|integral to membrane				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AAATGAAAGGCCTGAAGACAG	0.478													T	90178423	C	T	90178423	2	4	23	1	0	0	0	0	0	0	0	1	9023	726	26	2		2	LRRC8C	1	90178423	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	445289	90178423	159072198	58	20652											
DNTTIP2	30836	broad.mit.edu	37	chr1	94343392	94343392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtactactttctggatgCgcttgaatcccattagcagc	8	12	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:94343392C>T	uc001dqf.2	-	2	137	c.99G>A	c.(97-99)GCG>GCA	p.A33A	DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Intron	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal,	33					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTTCTGGATGCGCTTGAATCC	0.443													T	94343392	C	T	94343392	2	4	23	1	0	0	0	0	0	0	0	1	4682	755	27	1		1	DNTTIP2	1	94343392	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	4164969	94343392	154907229	59	20653											
DPYD	1806	broad.mit.edu	37	chr1	98058829	98058829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgaagacgatgaacacaCggcgagctccacaacgtaga	10	11	1	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:98058829C>T	uc001drv.2	-	10	1210	c.1073G>A	c.(1072-1074)CGT>CAT	p.R358H		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	358					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GATGAACACACGGCGAGCTCC	0.468													T	98058829	C	T	98058829	3	4	23	1	0	0	0	0	1	0	0	0	4745	536	19	1	2060	1	DPYD	1	98058829	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3715437	98058829	151191792	60	20654											
AGL	178	broad.mit.edu	37	chr1	100336320	100336320	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgacatttttcagtccatcCgaaaaataatttgggaggat	8	6	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:100336320C>T	uc001dsi.1	+	7	1253	c.853C>T	c.(853-855)CGA>TGA	p.R285*	AGL_uc001dsj.1_Nonsense_Mutation_p.R285*|AGL_uc001dsk.1_Nonsense_Mutation_p.R285*|AGL_uc001dsl.1_Nonsense_Mutation_p.R285*|AGL_uc001dsm.1_Nonsense_Mutation_p.R269*|AGL_uc001dsn.1_Nonsense_Mutation_p.R268*	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	285	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TCAGTCCATCCGAAAAATAAT	0.284													T	100336320	C	T	100336320	4	4	23	1	0	0	0	0	0	1	0	0	384	644	23	1	944	1	AGL	1	100336320	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2277491	100336320	148914301	61	20655											
SASS6	163786	broad.mit.edu	37	chr1	100568561	100568561	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttggcagatatcgaatgagGgaaggtattctggaatgcaa	13	4	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:100568561G>T	uc001dsu.2	-	14	1765	c.1624C>A	c.(1624-1626)CCT>ACT	p.P542T	SASS6_uc009wdz.2_Missense_Mutation_p.P375T	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	spindle assembly abnormal protein 6	542					centriole replication	centriole				upper_aerodigestive_tract(1)|ovary(1)	2		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		ATCGAATGAGGGAAGGTATTC	0.388													T	100568561	G	T	100568561	3	4	23	1	0	0	0	0	1	0	0	0	13850	1232	43	5	365	5	SASS6	1	100568561	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	232241	100568561	148682060	62	20656											
VCAM1	7412	broad.mit.edu	37	chr1	101186087	101186087	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatatcttgctcagattggTgactccgtctcattgacttg	9	9	3	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:101186087T>C	uc001dti.2	+	2	240	c.120T>C	c.(118-120)GGT>GGC	p.G40G	VCAM1_uc001dtj.2_Silent_p.G40G|VCAM1_uc010ouj.1_Silent_p.G40G	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	40	Ig-like C2-type 1.|Extracellular (Potential).				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTCAGATTGGTGACTCCGTCT	0.438													C	101186087	T	C	101186087	2	2	23	1	0	0	0	0	0	0	0	1	17134	1683	59	3		3	VCAM1	1	101186087	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	617526	101186087	148064534	63	20657											
SARS	6301	broad.mit.edu	37	chr1	109777940	109777940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaccgggatgagtggctcCggccggaggacctgcccatc	15	14	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:109777940C>T	uc001dwu.1	+	7	931	c.856C>T	c.(856-858)CGG>TGG	p.R286W	SARS_uc001dwt.1_Missense_Mutation_p.R286W|SARS_uc001dwv.1_Missense_Mutation_p.R286W|SARS_uc001dww.1_Missense_Mutation_p.R219W|SARS_uc001dwx.1_Missense_Mutation_p.R238W|SARS_uc009wfa.1_Missense_Mutation_p.R286W|SARS_uc001dwy.1_Missense_Mutation_p.R111W|SARS_uc001dwz.1_Missense_Mutation_p.R111W	NM_006513	NP_006504	P49591	SYSC_HUMAN	seryl-tRNA synthetase	286					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TGAGTGGCTCCGGCCGGAGGA	0.587													T	109777940	C	T	109777940	3	4	23	1	0	0	0	0	1	0	0	0	13844	643	23	1	882	1	SARS	1	109777940	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	8591853	109777940	139472681	64	20658											
CELSR2	1952	broad.mit.edu	37	chr1	109806835	109806835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggagccagcggggggcccGgccatgccattctgtccttc	15	14	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:109806835G>A	uc001dxa.3	+	10	5198	c.5137G>A	c.(5137-5139)GGC>AGC	p.G1713S		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1713	Extracellular (Potential).|Laminin G-like 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGGGGGGCCCGGCCATGCCAT	0.657											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	109806835	G	A	109806835	3	1	23	1	0	0	0	0	1	0	0	0	3222	1116	39	1	5175	1	CELSR2	1	109806835	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	28895	109806835	139443786	65	20659											
PSRC1	84722	broad.mit.edu	37	chr1	109824371	109824371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcgtcaaagagttcacaGtgggcagcaggtctcggaca	13	11	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:109824371G>A	uc001dxg.2	-	4	511	c.389C>T	c.(388-390)ACT>ATT	p.T130I	PSRC1_uc001dxb.2_5'UTR|PSRC1_uc001dxc.2_Missense_Mutation_p.T130I|PSRC1_uc001dxd.2_Missense_Mutation_p.T130I|PSRC1_uc001dxe.2_Missense_Mutation_p.T130I|PSRC1_uc001dxf.2_Missense_Mutation_p.T130I|PSRC1_uc001dxh.2_Missense_Mutation_p.T130I|PSRC1_uc001dxi.2_Missense_Mutation_p.T130I|PSRC1_uc001dxj.2_Missense_Mutation_p.T130I	NM_001032290	NP_001027461	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1 isoform c	130	4 X 4 AA repeats of P-X-X-P.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding				0		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		AGAGTTCACAGTGGGCAGCAG	0.642													A	109824371	G	A	109824371	3	1	23	1	0	0	0	0	1	0	0	0	12719	1029	36	4	693	4	PSRC1	1	109824371	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	17536	109824371	139426250	66	20660											
SORT1	6272	broad.mit.edu	37	chr1	109884778	109884778	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtggatccttcttgttgtAtcctagaacagatgtcaata	8	8	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:109884778A>G	uc001dxm.1	-	9	1015	c.966T>C	c.(964-966)GAT>GAC	p.D322D	SORT1_uc010ovi.1_Silent_p.D185D	NM_002959	NP_002950	Q99523	SORT_HUMAN	sortilin 1 preproprotein	322	Extracellular (Potential).				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			ovary(1)	1		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TTCTTGTTGTATCCTAGAACA	0.423													G	109884778	A	G	109884778	2	3	23	1	0	0	0	0	0	0	0	1	14935	446	16	3		3	SORT1	1	109884778	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	60407	109884778	139365843	67	20661											
RBM15	64783	broad.mit.edu	37	chr1	110883026	110883026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagagagaaagagactaCccgttctatgagagagtgcg	14	7	1	5			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:110883026C>T	uc001dzl.1	+	1	1082	c.999C>T	c.(997-999)TAC>TAT	p.Y333Y	RBM15_uc001dzm.1_Silent_p.Y333Y|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	333					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAAGAGACTACCCGTTCTATG	0.587			T	MKL1	acute megakaryocytic leukemia								T	110883026	C	T	110883026	2	4	23	1	0	0	0	0	0	0	0	1	13116	518	18	4		4	RBM15	1	110883026	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	998248	110883026	138367595	68	20662											
DENND2D	79961	broad.mit.edu	37	chr1	111730238	111730239	+	Frame_Shift_Ins	INS	-	-	T													cacagctcttatttcacagtINStttttcccttggtttcttct							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:111730237_111730238G>GT	uc001eak.1	-	11	1605_1606	c.1405_1406C>AC	c.(1405-1407)actfs	p.T469fs	DENND2D_uc001eal.1_Frame_Shift_Ins_p.T466fs	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	Homo sapiens DENN/MADD domain containing 2D (DENND2D), mRNA.	469										breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TTATTTCACAGTTTTTTCCCTT	0.426													T	111730239	-	T	111730238	7	5	23	1	0	1	1	0	0	0	0	0	4431	1725	60	0	14	0	DENND2D	1	111730238	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	847212	111730238	137520383	69	20663											
RAP1A	5906	broad.mit.edu	37	chr1	112246040	112246040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctattacagctcagtccaCgtttaacgacttacaggacc	6	12	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:112246040C>T	uc001ebi.2	+	5	370	c.266C>T	c.(265-267)ACG>ATG	p.T89M	RAP1A_uc001ebk.2_Missense_Mutation_p.T89M|RAP1A_uc001ebl.2_Missense_Mutation_p.T89M|RAP1A_uc001ebm.2_RNA	NM_002884	NP_002875	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family precursor	89					activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity				0		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		GCTCAGTCCACGTTTAACGAC	0.373													T	112246040	C	T	112246040	3	4	23	1	0	0	0	0	1	0	0	0	13035	536	19	1	280	1	RAP1A	1	112246040	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	515802	112246040	137004581	70	20664											
TRIM33	51592	broad.mit.edu	37	chr1	114969882	114969882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagggacaggatcacacCgtgctttcaaaatatgacgc	10	11	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:114969882C>T	uc001eew.2	-	8	1421	c.1337G>A	c.(1336-1338)CGG>CAG	p.R446Q	TRIM33_uc010owr.1_Missense_Mutation_p.R54Q|TRIM33_uc010ows.1_Missense_Mutation_p.R54Q|TRIM33_uc001eex.2_Missense_Mutation_p.R446Q	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	446					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGATCACACCGTGCTTTCAA	0.363			T	RET	papillary thyroid								T	114969882	C	T	114969882	3	4	23	1	0	0	0	0	1	0	0	0	16504	652	23	1	2098	1	TRIM33	1	114969882	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2723842	114969882	134280739	71	20665											
CASQ2	845	broad.mit.edu	37	chr1	116243913	116243914	+	In_Frame_Ins	INS	-	-	ATC													tatcctcttcatcagaattaINStcatcatcatcatcatcttc					rs72554069		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:116243912_116243913T>TATC	uc001efx.4	-	10	1413_1414	c.1149_1150A>GATA	c.(1147-1152)gataat>gaGATAat	p.383_384DN>EI	CASQ2_uc010owu.2_In_Frame_Ins_p.312_313DN>EI	NM_001232	NP_001223	O14958	CASQ2_HUMAN	Homo sapiens calsequestrin 2 (cardiac muscle) (CASQ2), nuclear gene encoding mitochondrial protein, mRNA.	383	Asp/Glu-rich (acidic).				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		tcatcagaattatcatcatcat	0.406													ATC	116243914	-	ATC	116243913	7	5	23	1	0	1	1	0	0	0	0	0	2681	446	16	0	54	0	CASQ2	1	116243913	In_Frame_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	1274031	116243913	133006708	72	20666											
NHLH2	4808	broad.mit.edu	37	chr1	116380938	116380938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcccagggactccggatccGagtgcgccgagctgggatgg	17	13	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:116380938G>A	uc009wgz.2	-	2	561	c.56C>T	c.(55-57)TCG>TTG	p.S19L	NHLH2_uc001efy.2_Missense_Mutation_p.S19L	NM_001111061	NP_001104531	Q02577	HEN2_HUMAN	nescient helix loop helix 2	19					cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CTCCGGATCCGAGTGCGCCGA	0.632													A	116380938	G	A	116380938	3	1	23	1	0	0	0	0	1	0	0	0	10404	1059	37	1	355	1	NHLH2	1	116380938	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	137025	116380938	132869683	73	20667											
WARS2	10352	broad.mit.edu	37	chr1	119575803	119575803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgccactatgttggacaCgccagcgcggccagccgggt	13	16	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:119575803C>T	uc001ehn.2	-	6	842	c.814G>A	c.(814-816)GTG>ATG	p.V272M	WARS2_uc010oxf.1_Missense_Mutation_p.V178M|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.V215M|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	272					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	ATGTTGGACACGCCAGCGCGG	0.627													T	119575803	C	T	119575803	3	4	23	1	0	0	0	0	1	0	0	0	17247	536	19	1	272	1	WARS2	1	119575803	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3194865	119575803	129674818	74	20668											
ADAM30	11085	broad.mit.edu	37	chr1	120436658	120436658	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgctttagattcttcctGtccagtttttgctttagatt	7	7	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:120436658G>A	uc001eij.2	-	1	2456	c.2302C>T	c.(2302-2304)CAG>TAG	p.Q768*		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	768	5 X 9 AA approximate repeats.|5.|Cytoplasmic (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GATTCTTCCTGTCCAGTTTTT	0.358													A	120436658	G	A	120436658	4	1	23	1	0	0	0	0	0	1	0	0	248	1386	48	4	74	4	ADAM30	1	120436658	Nonsense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	860855	120436658	128813963	75	20669											
NOTCH2	4853	broad.mit.edu	37	chr1	120462980	120462980	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccatggccgtcgatcaAtggggtcatcttcttctgag	12	10	5	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:120462980A>T	uc001eik.2	-	30	5607	c.5351T>A	c.(5350-5352)ATT>AAT	p.I1784N		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1784	Cytoplasmic (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCGTCGATCAATGGGGTCATC	0.532			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				T	120462980	A	T	120462980	3	4	23	1	0	0	0	0	1	0	0	0	10548	101	4	5	2084	5	NOTCH2	1	120462980	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	26322	120462980	128787641	76	20670											
PDE4DIP	9659	broad.mit.edu	37	chr1	144922006	144922006	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcactctgaagatcaagCagagctacctgttgctgagc	10	10	2	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:144922006C>T	uc001elw.3	-	9	1314	c.1023G>A	c.(1021-1023)CTG>CTA	p.L341L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.L407L|PDE4DIP_uc001emc.1_Silent_p.L341L|PDE4DIP_uc001emd.1_Silent_p.L341L|PDE4DIP_uc001emb.1_Silent_p.L504L|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Silent_p.L128L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	341					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAAGATCAAGCAGAGCTACCT	0.483			T	PDGFRB	MPD								T	144922006	C	T	144922006	2	4	23	1	0	0	0	0	0	0	0	1	11643	697	25	2		2	PDE4DIP	1	144922006	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	24459026	144922006	104328615	77	20671											
NOTCH2NL	388677	broad.mit.edu	37	chr1	145281505	145281505	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtgagactgatgtcaaTgagtgtgacattccaggaca	12	6	1	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:145281505T>C	uc001emn.3	+	4	805	c.435T>C	c.(433-435)AAT>AAC	p.N145N	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Silent_p.N145N|NOTCH2NL_uc001emo.2_Silent_p.N145N|NOTCH2NL_uc010oyh.1_RNA	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Notch homolog 2 N-terminal like protein	145	EGF-like 5; calcium-binding (Potential).				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			ovary(1)	1						CTGATGTCAATGAGTGTGACA	0.547													C	145281505	T	C	145281505	2	2	23	1	0	0	0	0	0	0	0	1	10549	1461	51	3		3	NOTCH2NL	1	145281505	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	359499	145281505	103969116	78	20672											
HFE2	148738	broad.mit.edu	37	chr1	145416569	145416569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggtagcagaggatgtggCcatggccttctcagctgaac	13	10	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:145416569C>T	uc001eni.2	+	4	1239	c.914C>T	c.(913-915)GCC>GTC	p.A305V	NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Missense_Mutation_p.A79V|HFE2_uc001enk.2_Missense_Mutation_p.A192V|HFE2_uc001enl.2_Missense_Mutation_p.A79V	NM_213653	NP_998818	Q6ZVN8	RGMC_HUMAN	hemojuvelin isoform a precursor	305					axon guidance	anchored to membrane				ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGGATGTGGCCATGGCCTTC	0.552													T	145416569	C	T	145416569	3	4	23	1	0	0	0	0	1	0	0	0	7082	739	26	2	924	2	HFE2	1	145416569	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	135064	145416569	103834052	79	20673											
ANKRD34A	284615	broad.mit.edu	37	chr1	145473759	145473759	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtacggaggtcatcatcaTcaccaccgatacctcgccct	9	15	4	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:145473759T>C	uc001enq.1	+	4	1724	c.431T>C	c.(430-432)ATC>ACC	p.I144T	NBPF10_uc001emp.3_Intron	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	144											0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTCATCATCATCACCACCGAT	0.652													C	145473759	T	C	145473759	3	2	23	1	0	0	0	0	1	0	0	0	662	1435	50	3	433	3	ANKRD34A	1	145473759	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	57190	145473759	103776862	80	20674											
ANKRD34A	284615	broad.mit.edu	37	chr1	145473989	145473989	+	Frame_Shift_Del	DEL	C	C	-													ttgaattccctcttcctaagCcccccgatgacccatcccct							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:145473988_145473988GC>G	uc021ouy.1	+	0	660	c.660_660GC>G	c.(658-660)aagfs	p.K220fs	ANKRD34A_uc001enq.1_Frame_Shift_Del_p.K220fs	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA.	220	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTCTTCCTAAGCCCCCCGATG	0.612													-	145473989	C	-	145473989	7	5	23	1	0	1	0	1	0	0	0	0	662	739	26	0	663	0	ANKRD34A	1	145473989	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	230	145473989	103776632	81	20675											
ANKRD35	148741	broad.mit.edu	37	chr1	145562723	145562723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacgatgagcgggaagaGccaggagatcggaaagctga	17	8	0	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:145562723G>A	uc001eob.1	+	10	2519	c.2411G>A	c.(2410-2412)AGC>AAC	p.S804N	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.S647N	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	804	Potential.									ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCGGGAAGAGCCAGGAGATC	0.617													A	145562723	G	A	145562723	3	1	23	1	0	0	0	0	1	0	0	0	664	971	34	2	2449	2	ANKRD35	1	145562723	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	88734	145562723	103687898	82	20676											
BCL9	607	broad.mit.edu	37	chr1	147092681	147092681	+	Frame_Shift_Del	DEL	C	C	-													tgctgctgcttccattaagtCcccccctgttttggggtctg					rs35292683		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:147092680_147092680TC>T	uc001epq.3	+	7	3459	c.2719_2719TC>T	c.(2719-2721)tccfs	p.S907fs	BCL9_uc010ozr.1_Frame_Shift_Del_p.S833fs	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	907	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TTCCATTAAGTCCCCCCCTGT	0.617			T	"IGH@, IGL@"	B-ALL								-	147092681	C	-	147092681	7	5	23	1	0	1	0	1	0	0	0	0	1381	855	30	0	2738	0	BCL9	1	147092681	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	1529958	147092681	102157940	83	20677											
GJA5	2702	broad.mit.edu	37	chr1	147231341	147231341	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcccaggaagctccaatcGcccatcttggcacagccagg	9	15	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:147231341G>A	uc001eps.1	-	2	147	c.6C>T	c.(4-6)GGC>GGT	p.G2G	GJA5_uc001ept.1_Silent_p.G2G	NM_181703	NP_859054	P36382	CXA5_HUMAN	connexin 40	2	Cytoplasmic (Potential).				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				ovary(1)	1	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			AGCTCCAATCGCCCATCTTGG	0.498													A	147231341	G	A	147231341	2	1	23	1	0	0	0	0	0	0	0	1	6404	1074	38	1		1	GJA5	1	147231341	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	138660	147231341	102019280	84	20678											
MTMR11	10903	broad.mit.edu	37	chr1	149905749	149905749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctaaccatcacactgaccGgtccacggccctgatgaaag	8	16	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:149905749G>A	uc001etl.3	-	8	1021	c.770C>T	c.(769-771)CCG>CTG	p.P257L	MTMR11_uc001etm.1_Missense_Mutation_p.P185L|MTMR11_uc010pbm.1_Missense_Mutation_p.P229L|MTMR11_uc010pbn.1_Missense_Mutation_p.P99L	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	257	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CACACTGACCGGTCCACGGCC	0.562													A	149905749	G	A	149905749	3	1	23	1	0	0	0	0	1	0	0	0	9940	1130	39	1	1438	1	MTMR11	1	149905749	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2674408	149905749	99344872	85	20679											
OTUD7B	56957	broad.mit.edu	37	chr1	149939441	149939441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagatgcccctagacaggcGtttttctgcaatgagaaatg	12	8	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:149939441G>A	uc001etn.2	-	4	636	c.280C>T	c.(280-282)CGC>TGC	p.R94C	OTUD7B_uc001eto.2_Intron	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	94					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CTAGACAGGCGTTTTTCTGCA	0.537													A	149939441	G	A	149939441	3	1	23	1	0	0	0	0	1	0	0	0	11319	1145	40	1	2287	1	OTUD7B	1	149939441	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	33692	149939441	99311180	86	20680											
ANP32E	81611	broad.mit.edu	37	chr1	150199124	150199124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcttcatcatcttcatcgCcatctttaaaaaatcattta	1	12	7	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:150199124C>T	uc001etw.2	-	5	867	c.497G>A	c.(496-498)GGC>GAC	p.G166D	ANP32E_uc010pbt.1_RNA|ANP32E_uc010pbu.1_Missense_Mutation_p.G118D|ANP32E_uc010pbv.1_Missense_Mutation_p.G125D|ANP32E_uc001etv.3_Missense_Mutation_p.G166D|ANP32E_uc010pbw.1_Missense_Mutation_p.A111T	NM_030920	NP_112182	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32	166	Asp/Glu-rich (highly acidic).					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity				0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATCTTCATCGCCATCTTTAAA	0.294													T	150199124	C	T	150199124	3	4	23	1	0	0	0	0	1	0	0	0	709	739	26	2	321	2	ANP32E	1	150199124	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	259683	150199124	99051497	87	20681											
RPRD2	23248	broad.mit.edu	37	chr1	150337344	150337344	+	Frame_Shift_Del	DEL	A	A	-													cgtcttggtgtatagagaacAaaaaacaccacagtactatc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:150337343_150337343CA>C	uc009wlr.3	+	0	354	c.153_153CA>C	c.(151-153)aacfs	p.N51fs	RPRD2_uc010pcc.1_Frame_Shift_Del_p.N51fs|RPRD2_uc001eup.4_Frame_Shift_Del_p.N51fs	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	51	CID.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GTATAGAGAACAAAAAACACC	0.502													-	150337344	A	-	150337344	7	5	23	1	0	1	0	1	0	0	0	0	13617	131	5	0	156	0	RPRD2	1	150337344	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	138220	150337344	98913277	88	20682											
TARS2	80222	broad.mit.edu	37	chr1	150476841	150476841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctccacgatgccctgggcCggccacatcagtgtgggaca	12	15	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:150476841C>T	uc001euq.2	+	14	1655	c.1648C>T	c.(1648-1650)CGG>TGG	p.R550W	TARS2_uc001eur.2_Missense_Mutation_p.R468W|TARS2_uc009wlt.2_Missense_Mutation_p.R176W|TARS2_uc009wls.2_Missense_Mutation_p.R420W	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	550					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TGCCCTGGGCCGGCCACATCA	0.453													T	150476841	C	T	150476841	3	4	23	1	0	0	0	0	1	0	0	0	15557	643	23	1	1702	1	TARS2	1	150476841	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	139497	150476841	98773780	89	20683											
TARS2	80222	broad.mit.edu	37	chr1	150479415	150479415	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggccagaaagagcaaagtAagagaacagtgaacattcgg	12	6	0	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:150479415A>G	uc001euq.2	+	18	2039	c.2032A>G	c.(2032-2034)AAG>GAG	p.K678E	TARS2_uc001eur.2_Missense_Mutation_p.K596E|TARS2_uc009wlt.2_Missense_Mutation_p.K304E|TARS2_uc009wls.2_Missense_Mutation_p.K548E|ECM1_uc010pce.1_5'Flank|ECM1_uc010pcf.1_5'Flank|ECM1_uc001eus.2_5'Flank|ECM1_uc001eut.2_5'Flank|ECM1_uc001euu.2_5'Flank|ECM1_uc001euv.2_5'Flank|ECM1_uc009wlu.2_5'Flank	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	678					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	AGAGCAAAGTAAGAGAACAGT	0.512													G	150479415	A	G	150479415	3	3	23	1	0	0	0	0	1	0	0	0	15557	363	13	3	2102	3	TARS2	1	150479415	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	2574	150479415	98771206	90	20684											
ZNF687	57592	broad.mit.edu	37	chr1	151259629	151259631	+	In_Frame_Del	DEL	GAT	GAT	-													gtcagcccttgaaggaagaaGatgatgatgaggggccagtg					rs149043825		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:151259628_151259630AGAT>A	uc001exq.3	+	1	959_961	c.861_863AGAT>A	c.(859-864)gaagat>gaAt	p.D290del	ZNF687_uc001exp.1_In_Frame_Del_p.D299del|ZNF687_uc009wmo.3_In_Frame_Del_p.D290del|ZNF687_uc009wmp.3_In_Frame_Del_p.D290del	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	290	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	p.E287D(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGAAGGAAGAAGATGATGATGAG	0.611													-	151259631	GAT	-	151259629	7	5	23	1	0	1	0	1	0	0	0	0	18089	942	33	0	864	0	ZNF687	1	151259629	In_Frame_Del	DEL	GAT	TCGA-BR-4368-01A-01D-1158-08	780214	151259629	97990992	91	20685											
LINGO4	339398	broad.mit.edu	37	chr1	151774033	151774033	+	Frame_Shift_Del	DEL	G	G	-													gatgggggccagcacaggcaGggggggacatgccaaagtcc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:151774032_151774032AG>A	uc001ezf.1	-	1	1339	c.1149_1149CT>T	c.(1147-1149)cctfs	p.P383fs	LINGO4_uc021oyu.1_Frame_Shift_Del_p.P383fs	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	383	LRRCT.					integral to membrane		p.P383T(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACAGGCAGGGGGGGACA	0.627													-	151774033	G	-	151774033	7	5	23	1	0	1	0	1	0	0	0	0	8817	1000	35	0	637	0	LINGO4	1	151774033	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	514404	151774033	97476588	92	20686											
TCHH	7062	broad.mit.edu	37	chr1	152081942	152081942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggaatcttccaactgccGgaactgttcattctctctgc	8	13	4	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:152081942G>A	uc001ezp.2	-	2	3751	c.3751C>T	c.(3751-3753)CGG>TGG	p.R1251W	TCHH_uc009wne.1_Missense_Mutation_p.R1251W	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1251					keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAACTGCCGGAACTGTTCA	0.507													A	152081942	G	A	152081942	3	1	23	1	0	0	0	0	1	0	0	0	15697	1115	39	1	2084	1	TCHH	1	152081942	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	307909	152081942	97168679	93	20687											
FLG2	388698	broad.mit.edu	37	chr1	152329498	152329498	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgttctctaattcttgacTgagtagagtttgattcatgc	8	6	3	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:152329498T>C	uc001ezw.3	-	3	837	c.764A>G	c.(763-765)CAG>CGG	p.Q255R	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	255	Ser-rich.|Filaggrin 1.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATTCTTGACTGAGTAGAGTT	0.453													C	152329498	T	C	152329498	3	2	23	1	0	0	0	0	1	0	0	0	5923	1580	55	3	6415	3	FLG2	1	152329498	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	247556	152329498	96921123	94	20688											
LCE1F	353137	broad.mit.edu	37	chr1	152748934	152748934	+	Frame_Shift_Del	DEL	C	C	-													aagtgccccacaccgaagtgCcccccaaagtgtccccctaa							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:152748933_152748933GC>G	uc010pdv.2	+	0	86	c.86_86GC>G	c.(85-87)tgcfs	p.C29fs		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	29	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			acaccgaagtgccccccaaag	0.657													-	152748934	C	-	152748934	7	5	23	1	0	1	0	1	0	0	0	0	8664	747	26	0	89	0	LCE1F	1	152748934	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	419436	152748934	96501687	95	20689											
DENND4B	9909	broad.mit.edu	37	chr1	153912194	153912194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggctccttggacttcgcGctccagccgggccctgcggc	14	16	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:153912194G>A	uc001fdd.1	-	12	2091	c.1690C>T	c.(1690-1692)CGC>TGC	p.R564C		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	564	dDENN.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGACTTCGCGCTCCAGCCGG	0.657													A	153912194	G	A	153912194	3	1	23	1	0	0	0	0	1	0	0	0	4434	1087	38	1	2868	1	DENND4B	1	153912194	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1163260	153912194	95338427	96	20690											
SLC39A1	27173	broad.mit.edu	37	chr1	153932959	153932959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctcgctgcagccctaccGccagcccctcgaacacggag	11	18	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:153932959G>A	uc001fdh.2	-	4	759	c.590C>T	c.(589-591)GCG>GTG	p.A197V	CRTC2_uc010ped.1_5'Flank|SLC39A1_uc001fdi.2_Missense_Mutation_p.A197V|SLC39A1_uc001fdj.2_Missense_Mutation_p.A197V|SLC39A1_uc001fdk.2_Missense_Mutation_p.A197V|SLC39A1_uc010pee.1_Missense_Mutation_p.A95V|SLC39A1_uc001fdl.2_Missense_Mutation_p.A197V	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter),	197	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		CAGCCCTACCGCCAGCCCCTC	0.677													A	153932959	G	A	153932959	3	1	23	1	0	0	0	0	1	0	0	0	14612	1087	38	1	388	1	SLC39A1	1	153932959	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	20765	153932959	95317662	97	20691											
TRIM46	80128	broad.mit.edu	37	chr1	155148062	155148062	+	Frame_Shift_Del	DEL	C	C	-													tccaccccttccacccgcagCccccgcctctcccgcagaac							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:155148061_155148061GC>G	uc001fhs.1	+	1	346	c.263_263GC>G	c.(262-264)agcfs	p.S88fs	KRTCAP2_uc001fho.3_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc010pez.1_Frame_Shift_Del_p.S75fs|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Frame_Shift_Del_p.S88fs|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Intron|TRIM46_uc001fhu.1_Frame_Shift_Del_p.S65fs|TRIM46_uc009wpg.1_Frame_Shift_Del_p.S75fs|TRIM46_uc009wpf.2_Frame_Shift_Del_p.S75fs|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	88						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCACCCGCAGCCCCCGCCTC	0.682													-	155148062	C	-	155148062	7	5	23	1	0	1	0	1	0	0	0	0	16518	738	26	0	270	0	TRIM46	1	155148062	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	1215103	155148062	94102559	98	20692											
PKLR	5313	broad.mit.edu	37	chr1	155264954	155264954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgtcgtcaatgtagatgCggccccccaccggcacgacc	11	18	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:155264954C>T	uc001fkb.3	-	5	686	c.647G>A	c.(646-648)CGC>CAC	p.R216H	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.R185H	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	216					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AATGTAGATGCGGCCCCCCAC	0.652													T	155264954	C	T	155264954	3	4	23	1	0	0	0	0	1	0	0	0	11976	768	27	1	1105	1	PKLR	1	155264954	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	116892	155264954	93985667	99	20693											
ARHGEF2	9181	broad.mit.edu	37	chr1	155927507	155927507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggcagacactcacgtgCgcacgctctgctgaatgacc	12	14	2	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:155927507C>T	uc001fmt.2	-	13	1830	c.1712G>A	c.(1711-1713)CGC>CAC	p.R571H	ARHGEF2_uc001fmr.2_Missense_Mutation_p.R543H|ARHGEF2_uc001fms.2_Missense_Mutation_p.R570H|ARHGEF2_uc001fmu.2_Missense_Mutation_p.R615H	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	571	PH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CACTCACGTGCGCACGCTCTG	0.572													T	155927507	C	T	155927507	3	4	23	1	0	0	0	0	1	0	0	0	903	768	27	1	1288	1	ARHGEF2	1	155927507	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	662553	155927507	93323114	100	20694											
BCAN	63827	broad.mit.edu	37	chr1	156621478	156621478	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaggcccctaggacgctcCtaggtaagtcggatccctta	11	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:156621478C>A	uc001fpp.2	+	7	1630	c.1294C>A	c.(1294-1296)CTA>ATA	p.L432I	BCAN_uc001fpo.2_Missense_Mutation_p.L432I	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	432	Glu-rich.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TAGGACGCTCCTAGGTAAGTC	0.552													A	156621478	C	A	156621478	3	1	23	1	0	0	0	0	1	0	0	0	1345	680	24	5	1316	5	BCAN	1	156621478	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	693971	156621478	92629143	101	20695											
CRABP2	1382	broad.mit.edu	37	chr1	156670692	156670692	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctcccatccacagtctGctcctcaaactcctccccaa	5	20	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:156670692G>A	uc001fpr.2	-	2	360	c.223C>T	c.(223-225)CAG>TAG	p.Q75*		NM_001878	NP_001869	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	75					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity			upper_aerodigestive_tract(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	TCCACAGTCTGCTCCTCAAAC	0.547													A	156670692	G	A	156670692	4	1	23	1	0	0	0	0	0	1	0	0	3844	1328	46	2	205	2	CRABP2	1	156670692	Nonsense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	49214	156670692	92579929	102	20696											
SH2D2A	9047	broad.mit.edu	37	chr1	156779494	156779494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgcatcgggactggggCttgcccctgtttgatgattg	13	9	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:156779494C>T	uc001fqd.2	-	6	813	c.673G>A	c.(673-675)GCC>ACC	p.A225T	SH2D2A_uc001fqc.1_Missense_Mutation_p.A197T|SH2D2A_uc009wsh.2_Missense_Mutation_p.A235T|SH2D2A_uc001fqe.2_Missense_Mutation_p.A207T|SH2D2A_uc010phs.1_Missense_Mutation_p.A225T	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN	SH2 domain protein 2A isoform 2	225	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity				0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGGACTGGGGCTTGCCCCTGT	0.607													T	156779494	C	T	156779494	3	4	23	1	0	0	0	0	1	0	0	0	14232	797	28	2	508	2	SH2D2A	1	156779494	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	108802	156779494	92471127	103	20697											
OR6N1	128372	broad.mit.edu	37	chr1	158736446	158736446	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaagatgatgaattctgcTacctggctccagttccctgt	8	13	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:158736446T>C	uc010piq.1	-	1	27	c.27A>G	c.(25-27)GTA>GTG	p.V9V		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TGAATTCTGCTACCTGGCTCC	0.458													C	158736446	T	C	158736446	2	2	23	1	0	0	0	0	0	0	0	1	11206	1509	53	3		3	OR6N1	1	158736446	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	1956952	158736446	90514175	104	20698											
UHMK1	127933	broad.mit.edu	37	chr1	162470799	162470799	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagtgatacagaatgtAcctcagctgttgatctgtgg	12	7	2	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:162470799A>G	uc001gcc.1	+	3	794	c.658A>G	c.(658-660)ACC>GCC	p.T220A	UHMK1_uc001gcb.1_Missense_Mutation_p.T146A|UHMK1_uc009wuu.1_Missense_Mutation_p.T220A	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	kinase interacting stathmin	220	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding				0	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TACAGAATGTACCTCAGCTGT	0.438													G	162470799	A	G	162470799	3	3	23	1	0	0	0	0	1	0	0	0	16963	391	14	3	718	3	UHMK1	1	162470799	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	3734353	162470799	86779822	105	20699											
LRRC52	440699	broad.mit.edu	37	chr1	165513785	165513785	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaccttgtttatttggactgTcagaacaaccggattcgaga	10	8	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:165513785T>A	uc001gde.2	+	1	308	c.252T>A	c.(250-252)TGT>TGA	p.C84*	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	84	LRR 2.|Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					ATTTGGACTGTCAGAACAACC	0.488													A	165513785	T	A	165513785	4	1	23	1	0	0	0	0	0	1	0	0	9010	1673	58	5	254	5	LRRC52	1	165513785	Nonsense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	3042986	165513785	83736836	106	20700											
TBX19	9095	broad.mit.edu	37	chr1	168282167	168282167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccacctggacagcagtggCctcgcatcccttcgcgggct	12	16	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:168282167C>T	uc001gfl.2	+	8	1325	c.1274C>T	c.(1273-1275)GCC>GTC	p.A425V	TBX19_uc001gfj.3_Missense_Mutation_p.A293V|TBX19_uc001gfm.2_Missense_Mutation_p.A128V	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	425					anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)					ACAGCAGTGGCCTCGCATCCC	0.622													T	168282167	C	T	168282167	3	4	23	1	0	0	0	0	1	0	0	0	15651	739	26	2	1304	2	TBX19	1	168282167	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2768382	168282167	80968454	107	20701											
NME7	29922	broad.mit.edu	37	chr1	169292503	169292503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtccgctttaaaaaggtgcGatgattctttacatcatgct	9	8	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:169292503G>A	uc001gfu.2	-	3	368	c.130C>T	c.(130-132)CGC>TGC	p.R44C	NME7_uc010plq.1_RNA|NME7_uc001gft.2_Missense_Mutation_p.R8C|NME7_uc001gfv.1_Missense_Mutation_p.R44C	NM_013330	NP_037462	Q9Y5B8	NDK7_HUMAN	nucleoside diphosphate kinase 7 isoform a	44	DM10.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)	1	all_hematologic(923;0.208)					AAAAAGGTGCGATGATTCTTT	0.313													A	169292503	G	A	169292503	3	1	23	1	0	0	0	0	1	0	0	0	10496	1058	37	1	1040	1	NME7	1	169292503	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1010336	169292503	79958118	108	20702											
BLZF1	8548	broad.mit.edu	37	chr1	169347718	169347718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctttctgaacagttagaaCgtatgtcaatacagtgtgat	9	6	2	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:169347718C>T	uc001gfx.1	+	4	1056	c.619C>T	c.(619-621)CGT>TGT	p.R207C	BLZF1_uc001gfy.2_Missense_Mutation_p.R207C|BLZF1_uc009wvp.1_Missense_Mutation_p.R184C	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	207	Potential.				cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			skin(1)	1	all_hematologic(923;0.208)					ACAGTTAGAACGTATGTCAAT	0.393													T	169347718	C	T	169347718	3	4	23	1	0	0	0	0	1	0	0	0	1453	536	19	1	629	1	BLZF1	1	169347718	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	55215	169347718	79902903	109	20703											
GORAB	92344	broad.mit.edu	37	chr1	170511699	170511699	+	Frame_Shift_Del	DEL	A	A	-													tggaagagaaaaataaacgtAaaaaagctcttttggctaaa							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:170511698_170511698TA>T	uc001gha.2	+	2	588	c.561_561TA>T	c.(559-561)cgtfs	p.R187fs	GORAB_uc001ggz.4_Frame_Shift_Del_p.R187fs|GORAB_uc009wvx.2_Frame_Shift_Del_p.R7fs|GORAB_uc001ghb.2_Frame_Shift_Del_p.R7fs|GORAB_uc001ghc.2_Frame_Shift_Del_p.R7fs|GORAB_uc001ghd.2_5'Flank	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.	187						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						AAAATAAACGTAAAAAAGCTC	0.393													-	170511699	A	-	170511699	7	5	23	1	0	1	0	1	0	0	0	0	6574	363	13	0	572	0	GORAB	1	170511699	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	1163981	170511699	78738922	110	20704											
BAT2L2	23215	broad.mit.edu	37	chr1	171511137	171511137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtgatttcaatgagaggcGagagagggatgaaaaaaaaa	13	3	1	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:171511137G>A	uc010pmg.1	+	16	4792	c.4526G>A	c.(4525-4527)CGA>CAA	p.R1509Q	BAT2L2_uc010pmh.1_Missense_Mutation_p.R486Q	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	1509							protein C-terminus binding				0						AATGAGAGGCGAGAGAGGGAT	0.398													A	171511137	G	A	171511137	3	1	23	1	0	0	0	0	1	0	0	0	1321	1058	37	1	4584	1	BAT2L2	1	171511137	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	999438	171511137	77739484	111	20705											
TNR	7143	broad.mit.edu	37	chr1	175292549	175292549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacggtggttgtaggggcGcatcttcatttccacaaagg	14	8	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:175292549G>A	uc001gkp.1	-	21	4102	c.4021C>T	c.(4021-4023)CGC>TGC	p.R1341C	TNR_uc009wwu.1_Missense_Mutation_p.R1341C	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1341	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					TTGTAGGGGCGCATCTTCATT	0.512													A	175292549	G	A	175292549	3	1	23	1	0	0	0	0	1	0	0	0	16335	1087	38	1	59	1	TNR	1	175292549	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3781412	175292549	73958072	112	20706											
CACNA1E	777	broad.mit.edu	37	chr1	181680102	181680103	+	Frame_Shift_Ins	INS	-	-	AG													tccacagggaatttgccaaaINSgagagagagagagtggagaa					rs147596634	by1000genomes	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:181680101_181680102A>AAG	uc009wxt.3	+	7	1262_1263	c.1067_1068A>AAG	c.(1066-1068)aaafs	p.K356fs	CACNA1E_uc001gow.3_Frame_Shift_Ins_p.K356fs|CACNA1E_uc009wxs.3_Frame_Shift_Ins_p.K356fs	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	356					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAATTTGCCAAAGAGAGAGAGA	0.51													AG	181680103	-	AG	181680102	7	5	23	1	0	1	1	0	0	0	0	0	2542	69	3	0	1098	0	CACNA1E	1	181680102	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	6387553	181680102	67570519	113	20707											
ZNF648	127665	broad.mit.edu	37	chr1	182026465	182026465	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtactttcctgctgttccgCgcttttgccaggaccgcggc	11	14	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:182026465C>T	uc001goz.2	-	2	889	c.681G>A	c.(679-681)GCG>GCA	p.A227A		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGCTGTTCCGCGCTTTTGCCA	0.701													T	182026465	C	T	182026465	2	4	23	1	0	0	0	0	0	0	0	1	18060	755	27	1		1	ZNF648	1	182026465	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	346363	182026465	67224156	114	20708											
TEDDM1	127670	broad.mit.edu	37	chr1	182369414	182369414	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgaacatggtgaggtgctgCcactctttggggtacatgaa	13	7	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:182369414C>A	uc001gpe.2	-	1	338	c.207G>T	c.(205-207)TGG>TGT	p.W69C		NM_172000	NP_741997	Q5T9Z0	TEDM1_HUMAN	putative membrane protein HE9	69						integral to membrane				ovary(2)	2						TGAGGTGCTGCCACTCTTTGG	0.498													A	182369414	C	A	182369414	3	1	23	1	0	0	0	0	1	0	0	0	15746	740	26	5	618	5	TEDDM1	1	182369414	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	342949	182369414	66881207	115	20709											
RGS16	6004	broad.mit.edu	37	chr1	182569617	182569617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtctgcaggttcatcctcGtcagctcgtgggtctcatgg	12	12	4	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:182569617G>A	uc001gpl.3	-	5	573	c.419C>T	c.(418-420)ACG>ATG	p.T140M		NM_002928	NP_002919	O15492	RGS16_HUMAN	regulator of G-protein signalling 16	140	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(1)	1						GTTCATCCTCGTCAGCTCGTG	0.587													A	182569617	G	A	182569617	3	1	23	1	0	0	0	0	1	0	0	0	13298	1145	40	1	193	1	RGS16	1	182569617	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	200203	182569617	66681004	116	20710											
GLT25D2	23127	broad.mit.edu	37	chr1	183933050	183933050	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcactcattgcttcaatctGcacatggatgaggttctcga	8	11	5	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:183933050G>A	uc001gqr.2	-	6	1309	c.937C>T	c.(937-939)CAG>TAG	p.Q313*	GLT25D2_uc010poj.1_Nonsense_Mutation_p.Q313*|GLT25D2_uc001gqq.2_Nonsense_Mutation_p.Q50*|GLT25D2_uc001gqs.2_Nonsense_Mutation_p.Q193*	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	313					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						GCTTCAATCTGCACATGGATG	0.547													A	183933050	G	A	183933050	4	1	23	1	0	0	0	0	0	1	0	0	6467	1328	46	2	971	2	GLT25D2	1	183933050	Nonsense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1363433	183933050	65317571	117	20711											
FAM129A	116496	broad.mit.edu	37	chr1	184764680	184764680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcattttcttggggaaCgtggctctccccattcgtat	8	11	4	0	rs140276880		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:184764680C>T	uc001gra.2	-	14	2412	c.2218G>A	c.(2218-2220)GTT>ATT	p.V740I	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	740	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4						TCTTGGGGAACGTGGCTCTCC	0.532													T	184764680	C	T	184764680	3	4	23	1	0	0	0	0	1	0	0	0	5436	536	19	1	572	1	FAM129A	1	184764680	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	831630	184764680	64485941	118	20712											
HMCN1	83872	broad.mit.edu	37	chr1	185958730	185958730	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggggagtatgtctgcactgcCaccaatacagccggctacgc	12	13	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:185958730C>G	uc001grq.1	+	21	3388	c.3159C>G	c.(3157-3159)GCC>GCG	p.A1053A	HMCN1_uc001grr.1_Silent_p.A394A	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1053	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TCTGCACTGCCACCAATACAG	0.483													G	185958730	C	G	185958730	2	3	23	1	0	0	0	0	0	0	0	1	7220	581	21	5		5	HMCN1	1	185958730	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1194050	185958730	63291891	119	20713											
HMCN1	83872	broad.mit.edu	37	chr1	185966629	185966629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaagagtggccaatcaaCgcattgaatttccatgtcct	8	9	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:185966629C>T	uc001grq.1	+	25	4076	c.3847C>T	c.(3847-3849)CGC>TGC	p.R1283C		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1283	Ig-like C2-type 10.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GGCCAATCAACGCATTGAATT	0.348													T	185966629	C	T	185966629	3	4	23	1	0	0	0	0	1	0	0	0	7220	536	19	1	3945	1	HMCN1	1	185966629	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	7899	185966629	63283992	120	20714											
HMCN1	83872	broad.mit.edu	37	chr1	186106003	186106003	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcagaaagaagatacctctGaatttgaatgtgttgctcga	9	7	2	5			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:186106003G>T	uc001grq.1	+	87	13745	c.13516G>T	c.(13516-13518)GAA>TAA	p.E4506*	HMCN1_uc001grs.1_Nonsense_Mutation_p.E75*	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4506	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AGATACCTCTGAATTTGAATG	0.433													T	186106003	G	T	186106003	4	4	23	1	0	0	0	0	0	1	0	0	7220	1291	45	5	13862	5	HMCN1	1	186106003	Nonsense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	139374	186106003	63144618	121	20715											
PRG4	10216	broad.mit.edu	37	chr1	186276379	186276379	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggagcctgcacccaccAccaccaaggagccttcaccc	7	20	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:186276379A>G	uc001gru.3	+	7	1579	c.1528A>G	c.(1528-1530)ACC>GCC	p.T510A	PRG4_uc001grt.3_Missense_Mutation_p.T469A|PRG4_uc009wyl.2_Missense_Mutation_p.T417A|PRG4_uc009wym.2_Missense_Mutation_p.T376A|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	510	59 X 8 AA repeats of K-X-P-X-P-T-T-X.|21.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						TGCACCCACCACCACCAAGGA	0.637													G	186276379	A	G	186276379	3	3	23	1	0	0	0	0	1	0	0	0	12481	159	6	3	1550	3	PRG4	1	186276379	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	170376	186276379	62974242	122	20716											
TPR	7175	broad.mit.edu	37	chr1	186292897	186292897	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatgtggtgggcgtctcggtGactgaggtgctcgaggggcc	20	8	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:186292897G>A	uc001grv.2	-	43	6515	c.6218C>T	c.(6217-6219)TCA>TTA	p.S2073L		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2073					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCGTCTCGGTGACTGAGGTGC	0.507			T	NTRK1	papillary thyroid								A	186292897	G	A	186292897	3	1	23	1	0	0	0	0	1	0	0	0	16413	1294	45	4	909	4	TPR	1	186292897	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	16518	186292897	62957724	123	20717											
CRB1	23418	broad.mit.edu	37	chr1	197404527	197404527	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaacactgtgaactcaacatCgatgaatgcttttcaaaccc	5	11	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:197404527C>T	uc001gtz.2	+	9	3669	c.3534C>T	c.(3532-3534)ATC>ATT	p.I1178I	CRB1_uc010poz.1_Silent_p.I1154I|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.I1066I|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Silent_p.I659I|CRB1_uc001gub.1_Silent_p.I827I	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	1178	EGF-like 16; calcium-binding (Potential).|Extracellular (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						AACTCAACATCGATGAATGCT	0.488													T	197404527	C	T	197404527	2	4	23	1	0	0	0	0	0	0	0	1	3848	874	31	1		1	CRB1	1	197404527	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	11111630	197404527	51846094	124	20718											
PPP1R12B	4660	broad.mit.edu	37	chr1	202464774	202464774	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaggcggcccaaggaacgAcgaagaggcacaggcatcaa	15	10	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:202464774A>G	uc001gya.1	+	17	2556	c.2412A>G	c.(2410-2412)CGA>CGG	p.R804R	PPP1R12B_uc001gxz.1_Silent_p.R804R|PPP1R12B_uc001gyb.1_Silent_p.R30R|PPP1R12B_uc001gyc.1_Silent_p.R30R	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	804					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			CCAAGGAACGACGAAGAGGCA	0.463													G	202464774	A	G	202464774	2	3	23	1	0	0	0	0	0	0	0	1	12355	262	10	3		3	PPP1R12B	1	202464774	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	5060247	202464774	46785847	125	20719											
CYB5R1	51706	broad.mit.edu	37	chr1	202934510	202934510	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcattaccttttccagtgTaagtgagcaacccgcttggc	10	11	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:202934510T>C	uc001gyt.2	-	5	535	c.464A>G	c.(463-465)TAC>TGC	p.Y155C	CYB5R1_uc010pqe.1_RNA	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	155	FAD-binding FR-type.|FAD (By similarity).				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.141)			TTTTCCAGTGTAAGTGAGCAA	0.517													C	202934510	T	C	202934510	3	2	23	1	0	0	0	0	1	0	0	0	4126	1638	57	3	473	3	CYB5R1	1	202934510	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	469736	202934510	46316111	126	20720											
TMEM183A	92703	broad.mit.edu	37	chr1	202990020	202990020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggactgctgcctactgcagGtcaccaccctcaatttcatc	7	15	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:202990020G>A	uc001gyu.1	+	7	947	c.889G>A	c.(889-891)GTC>ATC	p.V297I	TMEM183A_uc001gyv.1_RNA|TMEM183A_uc001gyw.1_Missense_Mutation_p.V296I|TMEM183A_uc001gyx.1_Missense_Mutation_p.G293D|TMEM183A_uc001gyy.2_5'Flank	NM_001079809	NP_001073277	Q8IXX5	T183A_HUMAN	transmembrane protein 183B	297						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(75;0.18)			CCTACTGCAGGTCACCACCCT	0.458													A	202990020	G	A	202990020	3	1	23	1	0	0	0	0	1	0	0	0	16099	1261	44	4	915	4	TMEM183A	1	202990020	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	55510	202990020	46260601	127	20721											
PPFIA4	8497	broad.mit.edu	37	chr1	203033065	203033065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgcctggtggacgcccGcatgctggaccacctcacca	13	15	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:203033065G>A	uc001gyz.2	+	12	2059	c.1466G>A	c.(1465-1467)CGC>CAC	p.R489H	PPFIA4_uc009xaj.2_Missense_Mutation_p.R1120H|PPFIA4_uc010pqf.1_Missense_Mutation_p.R702H|PPFIA4_uc001gza.2_Missense_Mutation_p.R480H|PPFIA4_uc001gzb.1_Missense_Mutation_p.R175H|PPFIA4_uc001gzc.1_Missense_Mutation_p.R31H	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	489	SAM 2.				cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						GTGGACGCCCGCATGCTGGAC	0.622													A	203033065	G	A	203033065	3	1	23	1	0	0	0	0	1	0	0	0	12312	1087	38	1	1512	1	PPFIA4	1	203033065	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	43045	203033065	46217556	128	20722											
PLEKHA6	22874	broad.mit.edu	37	chr1	204234077	204234077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccaactgaccttaaacGtgtgtttccggctgatgttg	11	9	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:204234077G>A	uc001hau.2	-	6	691	c.374C>T	c.(373-375)ACG>ATG	p.T125M		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	125	PH.									ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GACCTTAAACGTGTGTTTCCG	0.582													A	204234077	G	A	204234077	3	1	23	1	0	0	0	0	1	0	0	0	12060	1145	40	1	2840	1	PLEKHA6	1	204234077	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1201012	204234077	45016544	129	20723											
TMEM81	388730	broad.mit.edu	37	chr1	205053329	205053330	+	Frame_Shift_Ins	INS	-	-	C													tggcattgatgataactttcINScccacagcttcttgcagctt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:205053328_205053329T>TC	uc001hbt.3	-	0	260_261	c.120_121A>GA	c.(118-123)gggaaafs	p.G40fs		NM_203376	NP_976310	Q6P7N7	TMM81_HUMAN	Homo sapiens transmembrane protein 81 (TMEM81), mRNA.	40						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			ATGATAACTTTCCCCACAGCTT	0.53													C	205053330	-	C	205053329	7	5	23	1	0	1	1	0	0	0	0	0	16202	842	30	0	651	0	TMEM81	1	205053329	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	819252	205053329	44197292	130	20724											
LAMB3	3914	broad.mit.edu	37	chr1	209807865	209807865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcctgccagctctgaggcCgaccctggcggacccgaggg	14	16	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:209807865C>T	uc001hhg.2	-	5	881	c.491G>A	c.(490-492)CGG>CAG	p.R164Q	LAMB3_uc009xco.2_Missense_Mutation_p.R164Q|LAMB3_uc001hhh.2_Missense_Mutation_p.R164Q|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Intron	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	164	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCTCTGAGGCCGACCCTGGCG	0.597													T	209807865	C	T	209807865	3	4	23	1	0	0	0	0	1	0	0	0	8612	652	23	1	3099	1	LAMB3	1	209807865	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	4754536	209807865	39442756	131	20725											
HHAT	55733	broad.mit.edu	37	chr1	210761245	210761245	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctcttctttctctaggtaTgtgtacattccagtgggcgg	11	10	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:210761245T>G	uc009xcx.2	+	10	1213	c.1047T>G	c.(1045-1047)TAT>TAG	p.Y349*	HHAT_uc010psq.1_Nonsense_Mutation_p.Y212*|HHAT_uc001hhz.3_Nonsense_Mutation_p.Y349*|HHAT_uc010psr.1_Nonsense_Mutation_p.Y350*|HHAT_uc010pss.1_Nonsense_Mutation_p.Y304*|HHAT_uc009xcy.2_Nonsense_Mutation_p.Y284*|HHAT_uc010pst.1_Nonsense_Mutation_p.Y286*|HHAT_uc010psu.1_Nonsense_Mutation_p.Y284*|HHAT_uc001hia.3_Nonsense_Mutation_p.Y39*	NM_001122834	NP_001116306	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	349					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TCTCTAGGTATGTGTACATTC	0.537													G	210761245	T	G	210761245	4	3	23	1	0	0	0	0	0	1	0	0	7089	1471	51	5	1179	5	HHAT	1	210761245	Nonsense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	953380	210761245	38489376	132	20726											
KCNH1	3756	broad.mit.edu	37	chr1	211307209	211307209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccgaatgcacctcttacCattggaccgccgaacaatat	6	13	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:211307209C>T	uc001hib.2	-	1	249	c.79G>A	c.(79-81)GAT>AAT	p.D27N	KCNH1_uc001hic.2_Missense_Mutation_p.D27N	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	27	Cytoplasmic (Potential).|PAS.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CACCTCTTACCATTGGACCGC	0.582											OREG0014229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	211307209	C	T	211307209	3	4	23	1	0	0	0	0	1	0	0	0	8031	608	21	4	2934	4	KCNH1	1	211307209	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	545964	211307209	37943412	133	20727											
PROX1	5629	broad.mit.edu	37	chr1	214170906	214170906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccaaactccttacaacCggaaggcaaacatttggctg	10	11	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:214170906C>T	uc001hkh.2	+	2	1300	c.1028C>T	c.(1027-1029)CCG>CTG	p.P343L	PROX1_uc001hkg.1_Missense_Mutation_p.P343L	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	343					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCCTTACAACCGGAAGGCAAA	0.512													T	214170906	C	T	214170906	3	4	23	1	0	0	0	0	1	0	0	0	12560	652	23	1	1030	1	PROX1	1	214170906	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2863697	214170906	35079715	134	20728											
CENPF	1063	broad.mit.edu	37	chr1	214818951	214818951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagaggtgaaggaaaagaCggaactccttcagactttgt	13	7	1	4	rs150986314	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:214818951C>T	uc001hkm.2	+	13	6212	c.6038C>T	c.(6037-6039)ACG>ATG	p.T2013M		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2109	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGGAAAAGACGGAACTCCTT	0.443													T	214818951	C	T	214818951	3	4	23	1	0	0	0	0	1	0	0	0	3231	536	19	1	6084	1	CENPF	1	214818951	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	648045	214818951	34431670	135	20729											
KCTD3	51133	broad.mit.edu	37	chr1	215792267	215792267	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgactgtactacaatatcCtcatttacagtgagggaatg	9	7	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:215792267C>A	uc001hks.2	+	16	1896	c.1602C>A	c.(1600-1602)TCC>TCA	p.S534S	KCTD3_uc001hkt.2_Silent_p.S534S|KCTD3_uc010pub.1_Silent_p.S432S|KCTD3_uc009xdn.2_Silent_p.S258S	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	534						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CTACAATATCCTCATTTACAG	0.428													A	215792267	C	A	215792267	2	1	23	1	0	0	0	0	0	0	0	1	8110	668	24	5		5	KCTD3	1	215792267	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	973316	215792267	33458354	136	20730											
TGFB2	7042	broad.mit.edu	37	chr1	218607536	218607536	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgatgtaactgatgctgttcAtgaatggcttcaccataaag	9	8	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:218607536A>G	uc001hlm.2	+	3	1276	c.623A>G	c.(622-624)CAT>CGT	p.H208R	TGFB2_uc001hln.2_Missense_Mutation_p.H236R|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	NM_003238	NP_003229	P61812	TGFB2_HUMAN	transforming growth factor, beta 2 isoform 2	208					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding				0				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GATGCTGTTCATGAATGGCTT	0.413													G	218607536	A	G	218607536	3	3	23	1	0	0	0	0	1	0	0	0	15815	217	8	3	721	3	TGFB2	1	218607536	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	2815269	218607536	30643085	137	20731											
MIA3	375056	broad.mit.edu	37	chr1	222802779	222802780	+	Frame_Shift_Ins	INS	-	-	A													atgaaaacgctataaatgcaINSaaacggtctaaagaaaaaaa							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:222802778_222802779C>CA	uc001hnl.3	+	3	2225_2226	c.2216_2217C>CA	c.(2215-2217)gcafs	p.A739fs	MIA3_uc009xea.1_Frame_Shift_Ins_p.A575fs	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	739					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	p.A739S(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GCTATAAATGCAAAACGGTCTA	0.436													A	222802780	-	A	222802779	7	5	23	1	0	1	1	0	0	0	0	0	9565	117	5	0	2231	0	MIA3	1	222802779	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	4195243	222802779	26447842	138	20732											
TMEM63A	9725	broad.mit.edu	37	chr1	226040398	226040398	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgggacaagtgatgctgtAggccacgatgacagtgaaga	15	6	0	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:226040398A>G	uc001hpm.1	-	20	2120	c.1870T>C	c.(1870-1872)TAC>CAC	p.Y624H		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	624	Helical; (Potential).					integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					GTGATGCTGTAGGCCACGATG	0.562													G	226040398	A	G	226040398	3	3	23	1	0	0	0	0	1	0	0	0	16187	420	15	3	573	3	TMEM63A	1	226040398	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	3237619	226040398	23210223	139	20733											
C1orf55	163859	broad.mit.edu	37	chr1	226175780	226175780	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccttcttctcctgggtctcTtctgtttctgtaaccatcct	6	14	5	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:226175780T>A	uc001hpu.3	-	6	1004	c.951A>T	c.(949-951)GAA>GAT	p.E317D	C1orf55_uc001hpv.2_Missense_Mutation_p.E317D	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	hypothetical protein LOC163859	317										lung(1)	1	Breast(184;0.197)					CCTGGGTCTCTTCTGTTTCTG	0.493													A	226175780	T	A	226175780	3	1	23	1	0	0	0	0	1	0	0	0	2047	1606	56	5	412	5	C1orf55	1	226175780	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	135382	226175780	23074841	140	20734											
MRPL55	128308	broad.mit.edu	37	chr1	228294490	228294490	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcctggtccagaactgtcGgtagcgctccacatgcaagt	12	12	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:228294490G>A	uc001hry.2	-	3	1102	c.358C>T	c.(358-360)CGA>TGA	p.R120*	MRPL55_uc001hrz.3_Nonsense_Mutation_p.R156*|MRPL55_uc009xex.2_Nonsense_Mutation_p.R120*|MRPL55_uc001hsa.3_Nonsense_Mutation_p.R120*|MRPL55_uc001hsb.3_Nonsense_Mutation_p.R120*|MRPL55_uc001hsc.3_Nonsense_Mutation_p.R120*|MRPL55_uc001hsd.3_Nonsense_Mutation_p.R120*|MRPL55_uc001hse.3_Nonsense_Mutation_p.R120*|MRPL55_uc001hsf.3_Nonsense_Mutation_p.R120*|MRPL55_uc001hsg.3_Nonsense_Mutation_p.R120*	NM_181465	NP_852130	Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55 isoform a	120					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			central_nervous_system(1)	1		Prostate(94;0.0405)				CAGAACTGTCGGTAGCGCTCC	0.587													A	228294490	G	A	228294490	4	1	23	1	0	0	0	0	0	1	0	0	9819	1124	39	1	32	1	MRPL55	1	228294490	Nonsense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2118710	228294490	20956131	141	20735											
OBSCN	84033	broad.mit.edu	37	chr1	228529196	228529196	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaccgcgccttcgaggtgtGgcaggagcgggaggactcgg	19	10	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:228529196G>T	uc009xez.1	+	74	17959	c.17915G>T	c.(17914-17916)TGG>TTG	p.W5972L	OBSCN_uc001hsn.2_Missense_Mutation_p.W5972L|OBSCN_uc001hsr.1_Missense_Mutation_p.W601L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5972	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TTCGAGGTGTGGCAGGAGCGG	0.642													T	228529196	G	T	228529196	3	4	23	1	0	0	0	0	1	0	0	0	10812	1357	47	5	18205	5	OBSCN	1	228529196	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	234706	228529196	20721425	142	20736											
TRIM11	81559	broad.mit.edu	37	chr1	228582822	228582822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcgctcctggcccagcaCgcaggggccggggtcaaagc	16	14	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:228582822C>T	uc001hss.2	-	6	1246	c.991G>A	c.(991-993)GTG>ATG	p.V331M	TRIM11_uc010pvx.1_Missense_Mutation_p.V330M	NM_145214	NP_660215	Q96F44	TRI11_HUMAN	tripartite motif-containing 11	331	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			lung(3)|ovary(1)	4		Prostate(94;0.0724)				TGGCCCAGCACGCAGGGGCCG	0.697													T	228582822	C	T	228582822	3	4	23	1	0	0	0	0	1	0	0	0	16484	536	19	1	419	1	TRIM11	1	228582822	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	53626	228582822	20667799	143	20737											
RHOU	58480	broad.mit.edu	37	chr1	228879181	228879181	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtcccaaagcccccatcatCctagttggaacgcagtcgga	9	14	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:228879181C>T	uc001htf.2	+	3	1092	c.471C>T	c.(469-471)ATC>ATT	p.I157I		NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	ras homolog gene family, member U	157					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding				0	Breast(184;0.162)	Prostate(94;0.183)				CCCCCATCATCCTAGTTGGAA	0.522													T	228879181	C	T	228879181	2	4	23	1	0	0	0	0	0	0	0	1	13345	845	30	4		4	RHOU	1	228879181	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	296359	228879181	20371440	144	20738											
COG2	22796	broad.mit.edu	37	chr1	230820911	230820911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagatgagatgttcttgCcattactggtgcatcgcctg	12	9	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:230820911C>T	uc001htw.2	+	12	1460	c.1309C>T	c.(1309-1311)CCA>TCA	p.P437S	COG2_uc001htx.2_Missense_Mutation_p.P437S|COG2_uc010pwc.1_Missense_Mutation_p.P310S	NM_007357	NP_031383	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2 isoform	437					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GATGTTCTTGCCATTACTGGT	0.468													T	230820911	C	T	230820911	3	4	23	1	0	0	0	0	1	0	0	0	3658	739	26	2	1355	2	COG2	1	230820911	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1941730	230820911	18429710	145	20739											
CAPN9	10753	broad.mit.edu	37	chr1	230928178	230928178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacatggcacagaccagcGgcaatgggaagctggagttt	13	11	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:230928178G>A	uc001htz.1	+	16	1842	c.1729G>A	c.(1729-1731)GGC>AGC	p.G577S	CAPN9_uc009xfg.1_Missense_Mutation_p.G514S|CAPN9_uc001hua.1_Missense_Mutation_p.G551S	NM_006615	NP_006606	O14815	CAN9_HUMAN	calpain 9 isoform 1	577	1 (Potential).|EF-hand 2.|Domain IV.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				ACAGACCAGCGGCAATGGGAA	0.567													A	230928178	G	A	230928178	3	1	23	1	0	0	0	0	1	0	0	0	2632	1116	39	1	1791	1	CAPN9	1	230928178	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	107267	230928178	18322443	146	20740											
EGLN1	54583	broad.mit.edu	37	chr1	231503356	231503356	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtgctctctcatctgcaTcaaaataccaaacagttatt	4	12	4	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:231503356T>C	uc001huv.2	-	4	4331	c.1175A>G	c.(1174-1176)GAT>GGT	p.D392G	EGLN1_uc001huu.3_Missense_Mutation_p.D94G	NM_022051	NP_071334	Q9GZT9	EGLN1_HUMAN	egl nine homolog 1	392	Fe2OG dioxygenase.				negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding				0		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	CTCATCTGCATCAAAATACCA	0.378													C	231503356	T	C	231503356	3	2	23	1	0	0	0	0	1	0	0	0	4968	1435	50	3	113	3	EGLN1	1	231503356	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	575178	231503356	17747265	147	20741											
TARBP1	6894	broad.mit.edu	37	chr1	234541716	234541716	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggagtcagggcatcaaattCttcaacacttaacactttac	6	10	4	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:234541716C>A	uc001hwd.2	-	24	3922	c.3922G>T	c.(3922-3924)GAA>TAA	p.E1308*		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	1308					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GCATCAAATTCTTCAACACTT	0.463													A	234541716	C	A	234541716	4	1	23	1	0	0	0	0	0	1	0	0	15552	922	32	5	971	5	TARBP1	1	234541716	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3038360	234541716	14708905	148	20742											
ACTN2	88	broad.mit.edu	37	chr1	236907942	236907942	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcaaagagcagatcttGctgcagaaggattacgagtc	13	8	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:236907942G>T	uc001hyf.2	+	12	1476	c.1272G>T	c.(1270-1272)TTG>TTT	p.L424F	ACTN2_uc001hyg.2_Missense_Mutation_p.L216F|ACTN2_uc009xgi.1_Missense_Mutation_p.L424F|ACTN2_uc010pxu.1_Missense_Mutation_p.L113F|ACTN2_uc001hyh.2_Missense_Mutation_p.L112F	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	424	Spectrin 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AGCAGATCTTGCTGCAGAAGG	0.597													T	236907942	G	T	236907942	3	4	23	1	0	0	0	0	1	0	0	0	205	1310	46	5	1318	5	ACTN2	1	236907942	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2366226	236907942	12342679	149	20743											
RYR2	6262	broad.mit.edu	37	chr1	237664023	237664023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaataggttgtattgctcGtactgtaagctcaccaaacc	7	12	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:237664023G>A	uc001hyl.1	+	21	2336	c.2216G>A	c.(2215-2217)CGT>CAT	p.R739H		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	739	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTATTGCTCGTACTGTAAGC	0.393													A	237664023	G	A	237664023	3	1	23	1	0	0	0	0	1	0	0	0	13769	1145	40	1	2298	1	RYR2	1	237664023	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	756081	237664023	11586598	150	20744											
OPN3	23596	broad.mit.edu	37	chr1	241757740	241757740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcattcctacaaaggaCgaacttggattacatcaact	5	10	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:241757740C>T	uc001hza.2	-	4	1344	c.1199G>A	c.(1198-1200)CGT>CAT	p.R400H	KMO_uc009xgp.2_3'UTR|OPN3_uc001hzb.2_RNA|OPN3_uc001hzc.2_RNA	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	opsin 3	400	Cytoplasmic (Potential).				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity				0	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CTACAAAGGACGAACTTGGAT	0.408													T	241757740	C	T	241757740	3	4	23	1	0	0	0	0	1	0	0	0	10881	536	19	1	13	1	OPN3	1	241757740	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	4093717	241757740	7492881	151	20745											
CHML	1122	broad.mit.edu	37	chr1	241797190	241797190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacattattggttccaggagCctctggctgcttatcatcac	8	11	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:241797190C>T	uc001hzd.2	-	1	2043	c.1879G>A	c.(1879-1881)GCT>ACT	p.A627T	OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	choroideremia-like Rab escort protein 2	627					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(4)|skin(2)	6	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GTTCCAGGAGCCTCTGGCTGC	0.423													T	241797190	C	T	241797190	3	4	23	1	0	0	0	0	1	0	0	0	3351	739	26	2	95	2	CHML	1	241797190	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	39450	241797190	7453431	152	20746											
SDCCAG8	10806	broad.mit.edu	37	chr1	243433519	243433519	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagtgtgggaaatgaggaCgccaggacagcctggcccga	15	11	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:243433519C>T	uc001hzw.2	+	2	336	c.180C>T	c.(178-180)GAC>GAT	p.D60D	SDCCAG8_uc010pyk.1_Intron|SDCCAG8_uc010pyl.1_Intron	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	60					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding				0	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GAAATGAGGACGCCAGGACAG	0.458													T	243433519	C	T	243433519	2	4	23	1	0	0	0	0	0	0	0	1	13959	535	19	1		1	SDCCAG8	1	243433519	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1636329	243433519	5817102	153	20747											
C1orf101	257044	broad.mit.edu	37	chr1	244769065	244769065	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaaatacacggcagggAtgactatagctttaataata	11	5	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:244769065A>T	uc001iam.2	+	18	2431	c.2372A>T	c.(2371-2373)GAT>GTT	p.D791V	C1orf101_uc001iak.1_Missense_Mutation_p.D345V|C1orf101_uc001ial.2_Missense_Mutation_p.D791V|C1orf101_uc010pym.1_Missense_Mutation_p.D640V|C1orf101_uc010pyn.1_Missense_Mutation_p.D724V	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	hypothetical protein LOC257044 isoform 1	791	Extracellular (Potential).					integral to membrane				ovary(1)|breast(1)	2	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			CACGGCAGGGATGACTATAGC	0.338													T	244769065	A	T	244769065	3	4	23	1	0	0	0	0	1	0	0	0	1976	333	12	5	2442	5	C1orf101	1	244769065	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	1335546	244769065	4481556	154	20748											
OR2AK2	391191	broad.mit.edu	37	chr1	248129152	248129152	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttctatcaatgctttcatAcatacattgtatgtgtttca	6	7	4	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:248129152A>G	uc010pzd.1	+	1	519	c.519A>G	c.(517-519)ATA>ATG	p.I173M	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	173	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G167fs*43(1)		ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATGCTTTCATACATACATTGT	0.428													G	248129152	A	G	248129152	3	3	23	1	0	0	0	0	1	0	0	0	10986	381	14	3	521	3	OR2AK2	1	248129152	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	3360087	248129152	1121469	155	20749											
OR2L3	391192	broad.mit.edu	37	chr1	248224720	248224720	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcacccacctcactgTagtaactttctactatgcac	5	15	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:248224720T>C	uc001idx.1	+	1	737	c.737T>C	c.(736-738)GTA>GCA	p.V246A	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	246	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CACCTCACTGTAGTAACTTTC	0.488													C	248224720	T	C	248224720	3	2	23	1	0	0	0	0	1	0	0	0	11008	1638	57	3	739	3	OR2L3	1	248224720	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	95568	248224720	1025901	156	20750											
ASAP2	8853	broad.mit.edu	37	chr2	9525431	9525431	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacgttgaatatgaatggCgactactccacgaagacctg	9	10	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:9525431C>T	uc002qzh.2	+	21	2414	c.2074C>T	c.(2074-2076)CGA>TGA	p.R692*	ASAP2_uc002qzi.2_Nonsense_Mutation_p.R692*	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	692					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						ATATGAATGGCGACTACTCCA	0.453													T	9525431	C	T	9525431	4	4	23	1	0	0	0	0	0	1	0	0	1011	760	27	1	2156	1	ASAP2	2	9525431	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08		9525431	233673942	157	20751											
GREB1	9687	broad.mit.edu	37	chr2	11736258	11736258	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgacattgacattttgcTggacaaatttcaccaggaaa	10	7	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:11736258T>C	uc002rbk.1	+	13	2147	c.1847T>C	c.(1846-1848)CTG>CCG	p.L616P	GREB1_uc002rbo.1_Missense_Mutation_p.L250P	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	616						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GACATTTTGCTGGACAAATTT	0.378													C	11736258	T	C	11736258	3	2	23	1	0	0	0	0	1	0	0	0	6760	1580	55	3	2001	3	GREB1	2	11736258	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	2210827	11736258	231463115	158	20752											
ITSN2	50618	broad.mit.edu	37	chr2	24521655	24521655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctcccattctaagcgaCgttgtcgttcaagttcctgt	7	12	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:24521655C>T	uc002rfe.2	-	13	1631	c.1373G>A	c.(1372-1374)CGT>CAT	p.R458H	ITSN2_uc002rff.2_Missense_Mutation_p.R458H|ITSN2_uc002rfg.2_Missense_Mutation_p.R458H|ITSN2_uc010eyd.2_Missense_Mutation_p.R483H	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	458	Potential.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTAAGCGACGTTGTCGTTC	0.338													T	24521655	C	T	24521655	3	4	23	1	0	0	0	0	1	0	0	0	7927	536	19	1	3883	1	ITSN2	2	24521655	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	12785397	24521655	218677718	159	20753											
ASXL2	55252	broad.mit.edu	37	chr2	25965592	25965592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttgtgtcacccttgccaGcactctgggaaacctggggc	11	13	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:25965592G>A	uc002rgs.2	-	12	3835	c.3614C>T	c.(3613-3615)GCT>GTT	p.A1205V	ASXL2_uc002rgt.1_Missense_Mutation_p.A688V	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	1205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCCTTGCCAGCACTCTGGGA	0.483													A	25965592	G	A	25965592	3	1	23	1	0	0	0	0	1	0	0	0	1067	971	34	2	697	2	ASXL2	2	25965592	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1443937	25965592	217233781	160	20754											
KIF3C	3797	broad.mit.edu	37	chr2	26178514	26178514	+	Missense_Mutation	SNP	T	T	A													gagcatcatctcctgctgcaTctcccgctcacgacgtttct							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:26178514T>A	uc002rgu.2	-	3	2323	c.1666A>T	c.(1666-1668)ATG>TTG	p.M556L	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.M556L	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	556	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)					TCCTGCTGCATCTCCCGCTCA	0.592													A	26178514	T	A	26178514	3	1	23	1	0	0	0	0	1	0	0	0	8302	1435	50	5	739	5	KIF3C	2	26178514	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	212922	26178514	217020859	161	20755	73	2									
KIF3C	3797	broad.mit.edu	37	chr2	26178519	26178519	+	Missense_Mutation	SNP	C	C	T													tcatctcctgctgcatctccCgctcacgacgtttctaggcc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:26178519C>T	uc002rgu.2	-	3	2318	c.1661G>A	c.(1660-1662)CGG>CAG	p.R554Q	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.R554Q	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	554	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)					CTGCATCTCCCGCTCACGACG	0.597													T	26178519	C	T	26178519	3	4	23	1	0	0	0	0	1	0	0	0	8302	652	23	1	744	1	KIF3C	2	26178519	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	5	26178519	217020854	162	20756	73	2									
HADHB	3032	broad.mit.edu	37	chr2	26492864	26492864	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atttggctagagcagcgcttAcgtaagtaaatgcagtttca	10	7	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:26492864A>T	uc002rgz.2	+	5	504	c.253A>T	c.(253-255)ACG>TCG	p.T85S	HADHB_uc010ykv.1_Missense_Mutation_p.T63S|HADHB_uc010ykw.1_Intron|HADHB_uc002rha.2_Missense_Mutation_p.T85S|HADHB_uc010ykx.1_Missense_Mutation_p.T11S	NM_000183	NP_000174	P55084	ECHB_HUMAN	mitochondrial trifunctional protein, beta	85					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCAGCGCTTACGTAAGTAAA	0.348													T	26492864	A	T	26492864	3	4	23	1	0	0	0	0	1	0	0	0	6944	405	14	5	267	5	HADHB	2	26492864	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	314345	26492864	216706509	163	20757											
C2orf18	54978	broad.mit.edu	37	chr2	26998046	26998046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttttcctgcccccagcGctctgtgacatgacagggac	9	15	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:26998046G>A	uc002rhp.1	+	3	361	c.285G>A	c.(283-285)GCG>GCA	p.A95A	C2orf18_uc002rhq.1_Intron|C2orf18_uc010eyo.1_Silent_p.A42A|C2orf18_uc010ylc.1_Intron	NM_017877	NP_060347	Q8N357	CB018_HUMAN	ANT2-binding protein precursor	95	Helical; (Potential).					integral to membrane|lysosomal membrane					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCCCCAGCGCTCTGTGACA	0.602													A	26998046	G	A	26998046	2	1	23	1	0	0	0	0	0	0	0	1	2158	1074	38	1		1	C2orf18	2	26998046	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	505182	26998046	216201327	164	20758											
MAPRE3	22924	broad.mit.edu	37	chr2	27248479	27248479	+	Frame_Shift_Del	DEL	A	A	-													aggacgtcccccacaggcccAaaaaacatgcagacctctgg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:27248478_27248478CA>C	uc002rhw.3	+	4	650	c.497_497CA>C	c.(496-498)ccafs	p.P166fs		NM_012326	NP_036458	Q9UPY8	MARE3_HUMAN	Homo sapiens microtubule-associated protein, RP/EB family, member 3 (MAPRE3), mRNA.	166					cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCACAGGCCCAAAAAACATG	0.597													-	27248479	A	-	27248479	7	5	23	1	0	1	0	1	0	0	0	0	9296	117	5	0	512	0	MAPRE3	2	27248479	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	250433	27248479	215950894	165	20759											
ABHD1	84696	broad.mit.edu	37	chr2	27351875	27351875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccaagcagcctgacaGcagccaagaccctgatccta	10	15	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:27351875G>A	uc002rit.2	+	3	498	c.338G>A	c.(337-339)AGC>AAC	p.S113N	ABHD1_uc002riu.2_RNA|ABHD1_uc002riv.2_RNA	NM_032604	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain-containing protein 1	113						integral to membrane	carboxylesterase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCTGACAGCAGCCAAGAC	0.522													A	27351875	G	A	27351875	3	1	23	1	0	0	0	0	1	0	0	0	73	971	34	2	348	2	ABHD1	2	27351875	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	103396	27351875	215847498	166	20760											
C2orf71	388939	broad.mit.edu	37	chr2	29294162	29294162	+	Frame_Shift_Del	DEL	G	G	-													gagaggcctttctgcccacaGgggggcttctctctcggctc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:29294161_29294161AG>A	uc002rmt.2	-	0	2967	c.2967_2967CT>T	c.(2965-2967)cctfs	p.P989fs		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	989					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTCTGCCCACAGGGGGGCTTC	0.642													-	29294162	G	-	29294162	7	5	23	1	0	1	0	1	0	0	0	0	2191	1000	35	0	908	0	C2orf71	2	29294162	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	1942287	29294162	213905211	167	20761											
HEATR5B	54497	broad.mit.edu	37	chr2	37241024	37241024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccagtttttccatggtcGtggcactctctcggtacagc	10	13	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:37241024G>A	uc002rpp.1	-	27	4340	c.4244C>T	c.(4243-4245)ACG>ATG	p.T1415M	HEATR5B_uc010ezy.1_Translation_Start_Site|HEATR5B_uc002rpq.3_Translation_Start_Site	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1415							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				TTCCATGGTCGTGGCACTCTC	0.443													A	37241024	G	A	37241024	3	1	23	1	0	0	0	0	1	0	0	0	7032	1145	40	1	2011	1	HEATR5B	2	37241024	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	7946862	37241024	205958349	168	20762											
CEBPZ	10153	broad.mit.edu	37	chr2	37430154	37430154	+	Splice_Site	DEL	A	A	-													ttttcttttttcttggccctAaaaaaaattgtaagtctaca							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:37430153_37430153TA>T	uc002rpz.3	-	14	2915	c.2885_splice	c.e14-1	p.G962_splice	LOC100505876_uc002rpy.2_3'UTR|LOC100505876_uc002rpx.2_3'UTR	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	962					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTCTTGGCCCTAAAAAAAATT	0.269													-	37430154	A	-	37430154	8	5	23	1	0	1	0	1	0	0	1	0	3204	377	13	0		0	CEBPZ	2	37430154	Splice_Site	DEL	A	TCGA-BR-4368-01A-01D-1158-08	189130	37430154	205769219	169	20763											
CDKL4	344387	broad.mit.edu	37	chr2	39456572	39456572	+	Frame_Shift_Del	DEL	T	T	-													tcatcttcagattccacaaaTtttttaacagctactacttg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:39456571_39456571AT>A	uc010fal.2	-	0	103	c.103_103AT>T	c.(103-105)tttfs	p.F35fs	CDKL4_uc002rrm.3_Frame_Shift_Del_p.F35fs	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	Homo sapiens cyclin-dependent kinase-like 4 (CDKL4), mRNA.	35	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				GATTCCACAAATTTTTTAACA	0.323													-	39456572	T	-	39456572	7	5	23	1	0	1	0	1	0	0	0	0	3156	1490	52	0	877	0	CDKL4	2	39456572	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	2026418	39456572	203742801	170	20764											
TMEM178	130733	broad.mit.edu	37	chr2	39944310	39944310	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaggctttattgtggcagcTggaggtctctgcatcgctta	12	8	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:39944310T>C	uc002rrt.2	+	4	838	c.813T>C	c.(811-813)GCT>GCC	p.A271A	TMEM178_uc010fam.1_Silent_p.A225A	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	transmembrane protein 178 precursor	271	Helical; (Potential).					integral to membrane					0		all_hematologic(82;0.248)				TTGTGGCAGCTGGAGGTCTCT	0.512													C	39944310	T	C	39944310	2	2	23	1	0	0	0	0	0	0	0	1	16092	1567	55	3		3	TMEM178	2	39944310	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	487738	39944310	203255063	171	20765											
SLC8A1	6546	broad.mit.edu	37	chr2	40656343	40656343	+	Frame_Shift_Del	DEL	T	T	-													aatgcgataaaatgctctacTtttttgctgctgacttagga							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:40656342_40656342CT>C	uc002rrx.3	-	0	1103	c.1079_1079AG>G	c.(1078-1080)agtfs	p.S360fs	SLC8A1_uc002rry.3_Frame_Shift_Del_p.S360fs|SLC8A1_uc002rsb.2_Frame_Shift_Del_p.S360fs|SLC8A1_uc002rrz.3_Frame_Shift_Del_p.S360fs|SLC8A1_uc002rsa.3_Frame_Shift_Del_p.S360fs|SLC8A1_uc002rsd.4_Frame_Shift_Del_p.S360fs|SLC8A1_uc010fan.1_Frame_Shift_Del_p.S360fs|SLC8A1_uc002rsc.1_Frame_Shift_Del_p.S360fs	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	360					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.S360fs*2(2)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAATGCTCTACTTTTTTGCTG	0.423													-	40656343	T	-	40656343	7	5	23	1	0	1	0	1	0	0	0	0	14706	1609	56	0	1991	0	SLC8A1	2	40656343	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	712033	40656343	202543030	172	20766											
RHOQ	23433	broad.mit.edu	37	chr2	46808174	46808174	+	Frame_Shift_Del	DEL	A	A	-													actccaaagaaacacactgtAaaaaaaagaataggatcaag							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:46808173_46808173TA>T	uc002rva.3	+	4	888	c.569_569TA>T	c.(568-570)gtafs	p.V190fs	BC048424_uc002rvb.3_5'Flank	NM_012249	NP_036381	P17081	RHOQ_HUMAN	Homo sapiens ras homolog gene family, member Q (RHOQ), mRNA.	190					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAACACACTGTAAAAAAAAGA	0.368													-	46808174	A	-	46808174	7	5	23	1	0	1	0	1	0	0	0	0	13342	349	13	0	588	0	RHOQ	2	46808174	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	6151831	46808174	196391199	173	20767											
MSH6	2956	broad.mit.edu	37	chr2	48026138	48026138	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaccaagaatactttgagagCtttctctgcccctcaaaatt	5	11	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:48026138C>A	uc002rwd.3	+	4	1168	c.1016C>A	c.(1015-1017)GCT>GAT	p.A339D	MSH6_uc002rwc.2_Missense_Mutation_p.A339D|MSH6_uc010fbj.2_Missense_Mutation_p.A37D|MSH6_uc010yoi.1_Missense_Mutation_p.A209D|MSH6_uc010yoj.1_Missense_Mutation_p.A37D	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	339					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACTTTGAGAGCTTTCTCTGCC	0.448			Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				A	48026138	C	A	48026138	3	1	23	1	0	0	0	0	1	0	0	0	9874	797	28	5	1030	5	MSH6	2	48026138	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1217964	48026138	195173235	174	20768											
LHCGR	3973	broad.mit.edu	37	chr2	48915426	48915426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatgtaattgctgacacCgacaaggggcaacatagcaa	9	10	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:48915426C>T	uc002rwu.3	-	11	1580	c.1510G>A	c.(1510-1512)GGT>AGT	p.G504S	GTF2A1L_uc002rwt.2_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	504	Helical; Name=4; (Potential).				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|lung(2)|breast(2)|skin(1)	8		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TTGCTGACACCGACAAGGGGC	0.428									Familial_Male-Limited_Precocious_Puberty				T	48915426	C	T	48915426	3	4	23	1	0	0	0	0	1	0	0	0	8762	652	23	1	593	1	LHCGR	2	48915426	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	889288	48915426	194283947	175	20769											
GPR75	10936	broad.mit.edu	37	chr2	54080276	54080276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagcctccatgactttaaaCggaggggactggaatctgct	11	9	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:54080276C>T	uc002rxo.3	-	2	1889	c.1618G>A	c.(1618-1620)GTT>ATT	p.V540I	ASB3_uc002rxi.3_Intron	NM_006794	NP_006785	O95800	GPR75_HUMAN	G protein-coupled receptor 75	540	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|skin(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGACTTTAAACGGAGGGGACT	0.393													T	54080276	C	T	54080276	3	4	23	1	0	0	0	0	1	0	0	0	6708	536	19	1	8	1	GPR75	2	54080276	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	5164850	54080276	189119097	176	20770											
GPR75	10936	broad.mit.edu	37	chr2	54081175	54081175	+	Frame_Shift_Del	DEL	G	G	-													aagcatcgactgtgattacaGgggggcactttctgacttga							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:54081174_54081174AG>A	uc021vhn.1	-	0	720	c.720_720CT>T	c.(718-720)cctfs	p.P240fs	GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_Frame_Shift_Del_p.P240fs	NM_006794	NP_006785	O95800	GPR75_HUMAN	Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.	240						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CTGTGATTACAGGGGGGCACT	0.542													-	54081175	G	-	54081175	7	5	23	1	0	1	0	1	0	0	0	0	6708	1000	35	0	907	0	GPR75	2	54081175	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	899	54081175	189118198	177	20771											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	23	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-BR-4368-01A-01D-1158-08	85965	54167140	189032233	178	20772											
CCDC88A	55704	broad.mit.edu	37	chr2	55561646	55561647	+	Frame_Shift_Ins	INS	-	-	T													ttattgctgttctctaaagtINStttttgcagtctttgatttt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:55561645_55561646G>GT	uc002ryv.2	-	14	3153_3154	c.2311_2312C>AC	c.(2311-2313)actfs	p.T771fs	CCDC88A_uc010ypa.1_Frame_Shift_Ins_p.T771fs|CCDC88A_uc010yoz.1_Frame_Shift_Ins_p.T771fs|CCDC88A_uc010ypb.1_Frame_Shift_Ins_p.T673fs|CCDC88A_uc002ryu.2_Frame_Shift_Ins_p.T54fs|CCDC88A_uc002ryw.3_Frame_Shift_Ins_p.T54fs	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	771					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTTCTCTAAAGTTTTTTGCAGT	0.342													T	55561647	-	T	55561646	7	5	23	1	0	1	1	0	0	0	0	0	2863	1725	60	0	3376	0	CCDC88A	2	55561646	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	1394506	55561646	187637727	179	20773											
CCDC88A	55704	broad.mit.edu	37	chr2	55561755	55561755	+	Frame_Shift_Del	DEL	T	T	-													aaacccttcttaagttgctcTttttcactttccagttcttt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:55561754_55561754CT>C	uc002ryv.2	-	14	3045	c.2203_2203AG>G	c.(2203-2205)gagfs	p.E735fs	CCDC88A_uc010ypa.1_Frame_Shift_Del_p.E735fs|CCDC88A_uc010yoz.1_Frame_Shift_Del_p.E735fs|CCDC88A_uc010ypb.1_Frame_Shift_Del_p.E637fs|CCDC88A_uc002ryu.2_Frame_Shift_Del_p.E18fs|CCDC88A_uc002ryw.3_Frame_Shift_Del_p.E18fs	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	735					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTAAGTTGCTCTTTTTCACTT	0.383													-	55561755	T	-	55561755	7	5	23	1	0	1	0	1	0	0	0	0	2863	1606	56	0	3485	0	CCDC88A	2	55561755	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	109	55561755	187637618	180	20774											
USP34	9736	broad.mit.edu	37	chr2	61577527	61577527	+	Splice_Site	DEL	A	A	-													ggatgccaagtacagtgtctAaaaaaaagagggagagattt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:61577526_61577526TA>T	uc002sbe.3	-	12	1400	c.1378_splice	c.e12-1	p.T460_splice		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	460					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTACAGTGTCTAAAAAAAAGA	0.338													-	61577527	A	-	61577527	8	5	23	1	0	1	0	1	0	0	1	0	17062	377	13	0		0	USP34	2	61577527	Splice_Site	DEL	A	TCGA-BR-4368-01A-01D-1158-08	6015772	61577527	181621846	181	20775											
MXD1	4084	broad.mit.edu	37	chr2	70164409	70164409	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccgttcaccaaatcgacCagcttcagcgagagcagcga	10	13	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:70164409C>T	uc002sfy.2	+	5	621	c.361C>T	c.(361-363)CAG>TAG	p.Q121*	MXD1_uc010yqp.1_Nonsense_Mutation_p.Q121*|MXD1_uc010yqq.1_Nonsense_Mutation_p.Q58*|MXD1_uc010yqr.1_RNA|MXD1_uc010yqs.1_Nonsense_Mutation_p.Q111*	NM_002357	NP_002348	Q05195	MAD1_HUMAN	MAX dimerization protein 1	121					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						CCAAATCGACCAGCTTCAGCG	0.552													T	70164409	C	T	70164409	4	4	23	1	0	0	0	0	0	1	0	0	9999	595	21	4	379	4	MXD1	2	70164409	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	8586882	70164409	173034964	182	20776											
ASPRV1	151516	broad.mit.edu	37	chr2	70188638	70188638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccacagagcagtgtcggCgcaatcacgctggaaaacgg	12	12	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:70188638C>T	uc002sfz.3	-	1	760	c.183G>A	c.(181-183)GCG>GCA	p.A61A		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1 precursor	61	Helical; (Potential).				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			ovary(1)	1						GCAGTGTCGGCGCAATCACGC	0.642													T	70188638	C	T	70188638	2	4	23	1	0	0	0	0	0	0	0	1	1058	755	27	1		1	ASPRV1	2	70188638	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	24229	70188638	173010735	183	20777											
DYSF	8291	broad.mit.edu	37	chr2	71894590	71894590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcagcagggcctggtccCggagcacgtggagtcacggc	16	13	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:71894590C>T	uc002sie.2	+	47	5661	c.5285C>T	c.(5284-5286)CCG>CTG	p.P1762L	DYSF_uc010feg.2_Missense_Mutation_p.P1793L|DYSF_uc010feh.2_Missense_Mutation_p.P1769L|DYSF_uc002sig.3_Missense_Mutation_p.P1748L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.P1783L|DYSF_uc010fef.2_Missense_Mutation_p.P1800L|DYSF_uc010fei.2_Missense_Mutation_p.P1779L|DYSF_uc010fek.2_Missense_Mutation_p.P1780L|DYSF_uc010fej.2_Missense_Mutation_p.P1770L|DYSF_uc010fel.2_Missense_Mutation_p.P1749L|DYSF_uc010feo.2_Missense_Mutation_p.P1794L|DYSF_uc010fem.2_Missense_Mutation_p.P1784L|DYSF_uc010fen.2_Missense_Mutation_p.P1801L|DYSF_uc002sif.2_Missense_Mutation_p.P1763L|DYSF_uc010yqy.1_Missense_Mutation_p.P643L|DYSF_uc010yqz.1_Missense_Mutation_p.P523L	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1762	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GGCCTGGTCCCGGAGCACGTG	0.637													T	71894590	C	T	71894590	3	4	23	1	0	0	0	0	1	0	0	0	4859	652	23	1	5730	1	DYSF	2	71894590	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1705952	71894590	171304783	184	20778											
EGR4	1961	broad.mit.edu	37	chr2	73518943	73518943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcgggcagaagcagcgcGtgctgcatttgccgccgcgg	17	14	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:73518943G>A	uc010yrj.1	-	2	1487	c.1412C>T	c.(1411-1413)ACG>ATG	p.T471M	EGR4_uc010yrk.1_Missense_Mutation_p.T470M	NM_001965	NP_001956	Q05215	EGR4_HUMAN	early growth response 4	367						intracellular	nucleic acid binding|zinc ion binding				0						GAAGCAGCGCGTGCTGCATTT	0.726													A	73518943	G	A	73518943	3	1	23	1	0	0	0	0	1	0	0	0	4974	1145	40	1	361	1	EGR4	2	73518943	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1624353	73518943	169680430	185	20779											
ALMS1	7840	broad.mit.edu	37	chr2	73677057	73677057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactagcagaccagaagactGgcacaccaactgtaacctca	8	13	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:73677057G>A	uc002sje.1	+	10	3517	c.3406G>A	c.(3406-3408)GGC>AGC	p.G1136S	ALMS1_uc002sjf.1_Missense_Mutation_p.G1092S|ALMS1_uc002sjg.2_Missense_Mutation_p.G522S|ALMS1_uc002sjh.1_Missense_Mutation_p.G522S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1134	34 X 47 AA approximate tandem repeat.|13.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						CCAGAAGACTGGCACACCAAC	0.483													A	73677057	G	A	73677057	3	1	23	1	0	0	0	0	1	0	0	0	535	1348	47	4	3430	4	ALMS1	2	73677057	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	158114	73677057	169522316	186	20780											
DCTN1	1639	broad.mit.edu	37	chr2	74597938	74597938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcgttcctttgcctccagCgcctccttggcttcctgagg	10	15	0	1	rs151107870		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:74597938C>T	uc002skx.2	-	10	1169	c.858G>A	c.(856-858)GCG>GCA	p.A286A	DCTN1_uc002skv.2_Silent_p.A152A|DCTN1_uc002sku.2_Silent_p.A152A|DCTN1_uc002skw.1_Silent_p.A262A|DCTN1_uc010ffd.2_Silent_p.A266A|DCTN1_uc002sky.2_Silent_p.A249A	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	286	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						TTGCCTCCAGCGCCTCCTTGG	0.567													T	74597938	C	T	74597938	2	4	23	1	0	0	0	0	0	0	0	1	4306	755	27	1		1	DCTN1	2	74597938	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	920881	74597938	168601435	187	20781											
LOXL3	84695	broad.mit.edu	37	chr2	74761465	74761465	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctgacactcagtgtcttcGagacagaaactagctttgtg	9	10	2	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:74761465G>A	uc002smp.1	-	11	1989	c.1917C>T	c.(1915-1917)CTC>CTT	p.L639L	LOXL3_uc002smo.1_Silent_p.L278L|LOXL3_uc010ffm.1_Silent_p.L583L|LOXL3_uc002smq.1_Silent_p.L494L|LOXL3_uc010ffn.1_Silent_p.L494L	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	639	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0						CAGTGTCTTCGAGACAGAAAC	0.507													A	74761465	G	A	74761465	2	1	23	1	0	0	0	0	0	0	0	1	8901	1045	37	1		1	LOXL3	2	74761465	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	163527	74761465	168437908	188	20782											
REG1A	5967	broad.mit.edu	37	chr2	79348754	79348754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggcaccaatgcctatcGctcctactgctactacttta	6	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:79348754G>A	uc002snz.2	+	3	234	c.131G>A	c.(130-132)CGC>CAC	p.R44H	REG1A_uc010ffx.1_Missense_Mutation_p.R44H|REG1A_uc010ysd.1_Missense_Mutation_p.R44H	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	44	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0						AATGCCTATCGCTCCTACTGC	0.537													A	79348754	G	A	79348754	3	1	23	1	0	0	0	0	1	0	0	0	13210	1087	38	1	137	1	REG1A	2	79348754	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	4587289	79348754	163850619	189	20783											
MAT2A	4144	broad.mit.edu	37	chr2	85769750	85769750	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatggcggttggggtgctcaTggaggaggtgccttttcagg	18	6	2	0	rs144914741	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:85769750T>C	uc002spr.2	+	7	954	c.831T>C	c.(829-831)CAT>CAC	p.H277H	MAT2A_uc010ysr.1_Silent_p.H277H|MAT2A_uc010fgk.2_Silent_p.H251H|MAT2A_uc010fgl.2_Silent_p.H214H	NM_005911	NP_005902	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	277					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GGGGTGCTCATGGAGGAGGTG	0.478													C	85769750	T	C	85769750	2	2	23	1	0	0	0	0	0	0	0	1	9330	1461	51	3		3	MAT2A	2	85769750	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	6420996	85769750	157429623	190	20784											
EIF2AK3	9451	broad.mit.edu	37	chr2	88892797	88892797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaatacacacttctcatTgccactgcgaggtccgacag	8	13	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:88892797T>C	uc002stc.3	-	4	962	c.760A>G	c.(760-762)AAT>GAT	p.N254D		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	254	Lumenal (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						CACTTCTCATTGCCACTGCGA	0.393													C	88892797	T	C	88892797	3	2	23	1	0	0	0	0	1	0	0	0	4998	1812	63	3	2646	3	EIF2AK3	2	88892797	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	3123047	88892797	154306576	191	20785											
ADRA2B	151	broad.mit.edu	37	chr2	96781451	96781451	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcccttgtagatgaggggCggcagcgagatgacggcggc	18	10	0	4	rs13306147		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:96781451C>T	uc002svi.2	-	1	438	c.438G>A	c.(436-438)CCG>CCA	p.P146P		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	146	Helical; Name=4; (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	AGATGAGGGGCGGCAGCGAGA	0.677													T	96781451	C	T	96781451	2	4	23	1	0	0	0	0	0	0	0	1	338	755	27	1		1	ADRA2B	2	96781451	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	7888654	96781451	146417922	192	20786											
C2orf55	343990	broad.mit.edu	37	chr2	99413824	99413824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctaagcacctggcctctctCgggcaccttggcttgctttc	9	15	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:99413824C>T	uc002szf.1	-	8	2887	c.2593G>A	c.(2593-2595)GAG>AAG	p.E865K		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	865											0						TGGCCTCTCTCGGGCACCTTG	0.612													T	99413824	C	T	99413824	3	4	23	1	0	0	0	0	1	0	0	0	2176	893	31	1	307	1	C2orf55	2	99413824	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2632373	99413824	143785549	193	20787											
IL1RL2	8808	broad.mit.edu	37	chr2	102805670	102805670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaattctagcaaaatcccaGtgtccaaaatcatacagtct	4	10	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:102805670G>A	uc002tbs.2	+	3	319	c.193G>A	c.(193-195)GTG>ATG	p.V65M	IL1RL2_uc002tbt.2_Intron	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2 precursor	65	Extracellular (Potential).|Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			ovary(2)	2						CAAAATCCCAGTGTCCAAAAT	0.413													A	102805670	G	A	102805670	3	1	23	1	0	0	0	0	1	0	0	0	7664	1029	36	4	199	4	IL1RL2	2	102805670	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3391846	102805670	140393703	194	20788											
NCK2	8440	broad.mit.edu	37	chr2	106497989	106497989	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcaccgtcatggagaagtgCagcgacggttggtggcgggg	19	8	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:106497989C>G	uc002tdg.2	+	4	874	c.432C>G	c.(430-432)TGC>TGG	p.C144W	NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Missense_Mutation_p.C144W	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	144	SH3 2.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			ovary(1)|lung(1)	2						TGGAGAAGTGCAGCGACGGTT	0.637													G	106497989	C	G	106497989	3	3	23	1	0	0	0	0	1	0	0	0	10220	718	25	5	438	5	NCK2	2	106497989	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3692319	106497989	136701384	195	20789											
ST6GAL2	84620	broad.mit.edu	37	chr2	107446579	107446579	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctttagtgttctcctggaTaatatcccagagctgccata	7	11	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:107446579T>C	uc002tdq.2	-	5	1380	c.1261A>G	c.(1261-1263)ATC>GTC	p.I421V	ST6GAL2_uc002tdr.2_Missense_Mutation_p.I421V|ST6GAL2_uc002tds.3_Missense_Mutation_p.I421V	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	421	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						TTCTCCTGGATAATATCCCAG	0.393													C	107446579	T	C	107446579	3	2	23	1	0	0	0	0	1	0	0	0	15221	1406	49	3	423	3	ST6GAL2	2	107446579	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	948590	107446579	135752794	196	20790											
EDAR	10913	broad.mit.edu	37	chr2	109524475	109524475	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggatgaggcatcgttctcGctgcaaaaacaagagcgatg	12	9	1	2	rs143674939		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:109524475G>A	uc002teq.3	-	10	1235	c.804C>T	c.(802-804)AGC>AGT	p.S268S	EDAR_uc010fjn.2_Silent_p.S300S|EDAR_uc010yws.1_Silent_p.S300S	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	268	Cytoplasmic (Potential).				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1						CATCGTTCTCGCTGCAAAAAC	0.607													A	109524475	G	A	109524475	2	1	23	1	0	0	0	0	0	0	0	1	4905	1101	38	1		1	EDAR	2	109524475	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2077896	109524475	133674898	197	20791											
PSD4	23550	broad.mit.edu	37	chr2	113950132	113950132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctatcgcctggagggcttcCggaagtctgaagtggctgcc	14	11	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:113950132C>T	uc002tjc.2	+	6	1987	c.1804C>T	c.(1804-1806)CGG>TGG	p.R602W	PSD4_uc002tjd.2_Missense_Mutation_p.R223W|PSD4_uc002tje.2_Missense_Mutation_p.R573W|PSD4_uc002tjf.2_Missense_Mutation_p.R223W	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	602	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						GGAGGGCTTCCGGAAGTCTGA	0.597													T	113950132	C	T	113950132	3	4	23	1	0	0	0	0	1	0	0	0	12649	643	23	1	1822	1	PSD4	2	113950132	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	4425657	113950132	129249241	198	20792											
DDX18	8886	broad.mit.edu	37	chr2	118583858	118583858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaaaggaatatattcatcGtgtgggtagaacagccagag	11	7	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:118583858G>A	uc002tlh.1	+	11	1634	c.1535G>A	c.(1534-1536)CGT>CAT	p.R512H		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	512	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4						TATATTCATCGTGTGGGTAGA	0.458													A	118583858	G	A	118583858	3	1	23	1	0	0	0	0	1	0	0	0	4345	1145	40	1	1577	1	DDX18	2	118583858	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	4633726	118583858	124615515	199	20793											
STEAP3	55240	broad.mit.edu	37	chr2	120005432	120005432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggccctggggctcttcGtctgcttctatgcctacaac	10	14	3	0	rs139584756	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:120005432G>A	uc002tlp.2	+	4	827	c.670G>A	c.(670-672)GTC>ATC	p.V224I	STEAP3_uc002tlq.2_Missense_Mutation_p.V234I|STEAP3_uc002tlr.2_Missense_Mutation_p.V224I|STEAP3_uc010fle.2_Missense_Mutation_p.V224I	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	224	Helical; (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			central_nervous_system(2)|skin(1)	3						GGGGCTCTTCGTCTGCTTCTA	0.632													A	120005432	G	A	120005432	3	1	23	1	0	0	0	0	1	0	0	0	15278	1145	40	1	710	1	STEAP3	2	120005432	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1421574	120005432	123193941	200	20794											
PTPN4	5775	broad.mit.edu	37	chr2	120677773	120677773	+	Frame_Shift_Del	DEL	T	T	-													ccacttccacctcaaaagaaTttttttgcacattattttac							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:120677772_120677772AT>A	uc002tmf.1	+	11	1727	c.956_956AT>A	c.(955-957)aatfs	p.N319fs	PTPN4_uc010flj.1_Frame_Shift_Del_p.N32fs	NM_002830	NP_002821	P29074	PTN4_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA.	319						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CCTCAAAAGAATTTTTTTGCA	0.333													-	120677773	T	-	120677773	7	5	23	1	0	1	0	1	0	0	0	0	12790	1490	52	0	999	0	PTPN4	2	120677773	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	672341	120677773	122521600	201	20795											
INHBB	3625	broad.mit.edu	37	chr2	121107175	121107175	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgacttccgcctcatcggcTggaacgactggatcatagca	10	12	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:121107175T>C	uc002tmn.2	+	2	995	c.949T>C	c.(949-951)TGG>CGG	p.W317R		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	317					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)				CCTCATCGGCTGGAACGACTG	0.622													C	121107175	T	C	121107175	3	2	23	1	0	0	0	0	1	0	0	0	7742	1580	55	3	955	3	INHBB	2	121107175	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	429402	121107175	122092198	202	20796											
GLI2	2736	broad.mit.edu	37	chr2	121744020	121744020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggggccgacacctcagCcctggctgccccctccgctg	11	21	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:121744020C>T	uc010flp.2	+	12	2153	c.2123C>T	c.(2122-2124)GCC>GTC	p.A708V	GLI2_uc002tmq.1_Missense_Mutation_p.A380V|GLI2_uc002tmr.1_Missense_Mutation_p.A363V|GLI2_uc002tmt.3_Missense_Mutation_p.A380V|GLI2_uc002tmu.3_Missense_Mutation_p.A363V|GLI2_uc002tmw.1_Missense_Mutation_p.A691V	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	708					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				GACACCTCAGCCCTGGCTGCC	0.652													T	121744020	C	T	121744020	3	4	23	1	0	0	0	0	1	0	0	0	6438	739	26	2	2169	2	GLI2	2	121744020	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	636845	121744020	121455353	203	20797											
SAP130	79595	broad.mit.edu	37	chr2	128700069	128700069	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgggataatcccttcctGcaggttagtaagtctttcat	8	9	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:128700069G>A	uc002tpp.2	-	19	3049	c.2917C>T	c.(2917-2919)CAG>TAG	p.Q973*	SAP130_uc002tpn.2_Nonsense_Mutation_p.Q733*|SAP130_uc002tpo.2_Nonsense_Mutation_p.Q753*|SAP130_uc010fmd.2_Nonsense_Mutation_p.Q1008*	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	973	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ATCCCTTCCTGCAGGTTAGTA	0.423													A	128700069	G	A	128700069	4	1	23	1	0	0	0	0	0	1	0	0	13831	1328	46	2	237	2	SAP130	2	128700069	Nonsense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	6956049	128700069	114499304	204	20798											
UGGT1	56886	broad.mit.edu	37	chr2	128865513	128865513	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatgttcttccttgacaggTaccgattattcctactatca	5	10	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:128865513T>C	uc002tps.2	+	4	457	c.279T>C	c.(277-279)GGT>GGC	p.G93G	UGGT1_uc010fme.1_Intron|UGGT1_uc002tpr.2_Silent_p.G69G	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	93					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1						CCTTGACAGGTACCGATTATT	0.378													C	128865513	T	C	128865513	2	2	23	1	0	0	0	0	0	0	0	1	16938	1652	57	3		3	UGGT1	2	128865513	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	165444	128865513	114333860	205	20799											
CCDC74B	91409	broad.mit.edu	37	chr2	130897852	130897852	+	Frame_Shift_Del	DEL	G	G	-													ggggaaggggcaggatcattGgggggtgtgccgccgccccc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:130897851_130897851TG>T	uc010yzw.1	-	3	1827	c.1083_1083CA>A	c.(1081-1083)ccafs	p.P361fs	CCDC74B_uc002tqm.1_Frame_Shift_Del_p.P259fs|CCDC74B_uc002tqn.1_Frame_Shift_Del_p.P193fs			Q96LY2	CC74B_HUMAN	Homo sapiens coiled-coil domain containing 74B (CCDC74B), mRNA.	259										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GCAGGATCATTGGGGGGTGTG	0.612													-	130897852	G	-	130897852	7	5	23	1	0	1	0	1	0	0	0	0	2848	1348	47	0	382	0	CCDC74B	2	130897852	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	2032339	130897852	112301521	206	20800											
NCKAP5	344148	broad.mit.edu	37	chr2	133543248	133543248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagcaaagccacttgggagcGaagaatcaatacttagcctt	9	9	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:133543248G>A	uc002ttp.2	-	14	1510	c.1136C>T	c.(1135-1137)TCG>TTG	p.S379L	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	379	Ser-rich.						protein binding				0						ACTTGGGAGCGAAGAATCAAT	0.388													A	133543248	G	A	133543248	3	1	23	1	0	0	0	0	1	0	0	0	10223	1059	37	1	4621	1	NCKAP5	2	133543248	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2645396	133543248	109656125	207	20801											
MGAT5	4249	broad.mit.edu	37	chr2	135102526	135102526	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagaaggttgtaggaaacCgatctggctgcccaactgta	12	8	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:135102526C>T	uc002ttv.1	+	8	1148	c.1003C>T	c.(1003-1005)CGA>TGA	p.R335*		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	335	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TGTAGGAAACCGATCTGGCTG	0.388													T	135102526	C	T	135102526	4	4	23	1	0	0	0	0	0	1	0	0	9548	644	23	1	1033	1	MGAT5	2	135102526	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1559278	135102526	108096847	208	20802											
LCT	3938	broad.mit.edu	37	chr2	136561685	136561685	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctgtggtaggtcccagTggtaaatggtcacctgggaa	15	8	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:136561685T>C	uc002tuu.1	-	11	4489	c.4478A>G	c.(4477-4479)CAC>CGC	p.H1493R		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1493	Extracellular (Potential).|4.|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		TAGGTCCCAGTGGTAAATGGT	0.532													C	136561685	T	C	136561685	3	2	23	1	0	0	0	0	1	0	0	0	8693	1696	59	3	1333	3	LCT	2	136561685	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	1459159	136561685	106637688	209	20803											
LCT	3938	broad.mit.edu	37	chr2	136566693	136566693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggggaaattcccctgagCcataacctagccatgccagg	11	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:136566693C>T	uc002tuu.1	-	8	3235	c.3224G>A	c.(3223-3225)GGC>GAC	p.G1075D		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1075	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTCCCCTGAGCCATAACCTAG	0.507													T	136566693	C	T	136566693	3	4	23	1	0	0	0	0	1	0	0	0	8693	739	26	2	2599	2	LCT	2	136566693	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	5008	136566693	106632680	210	20804											
LRP1B	53353	broad.mit.edu	37	chr2	141625218	141625218	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggctgtgcactggttttcTgaatcacactgacattctgc	9	10	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:141625218T>C	uc002tvj.1	-	27	5492	c.4520A>G	c.(4519-4521)CAG>CGG	p.Q1507R	LRP1B_uc010fnl.1_Missense_Mutation_p.Q689R	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1507	Extracellular (Potential).|LDL-receptor class B 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTGGTTTTCTGAATCACACT	0.473										TSP Lung(27;0.18)			C	141625218	T	C	141625218	3	2	23	1	0	0	0	0	1	0	0	0	8955	1580	55	3	9539	3	LRP1B	2	141625218	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	5058525	141625218	101574155	211	20805											
RND3	390	broad.mit.edu	37	chr2	151326739	151326739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctgctccaatctgtttgGccatatttgccccctgagaa	8	12	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:151326739G>A	uc002txe.2	-	5	741	c.497C>T	c.(496-498)GCC>GTC	p.A166V	RND3_uc002txf.2_Missense_Mutation_p.A165V|RND3_uc002txg.2_Missense_Mutation_p.A166V|RND3_uc010zbv.1_Intron|RND3_uc010zbw.1_Intron	NM_005168	NP_005159	P61587	RND3_HUMAN	ras homolog gene family, member E precursor	166					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.106)		AATCTGTTTGGCCATATTTGC	0.403													A	151326739	G	A	151326739	3	1	23	1	0	0	0	0	1	0	0	0	13421	1203	42	2	241	2	RND3	2	151326739	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	9701521	151326739	91872634	212	20806											
RIF1	55183	broad.mit.edu	37	chr2	152273371	152273371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttaacaaaggagagacGcattctgctgttgttgattt	10	6	1	2	rs149505451	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:152273371G>A	uc002txm.2	+	6	589	c.459G>A	c.(457-459)ACG>ACA	p.T153T	RIF1_uc002txl.2_Silent_p.T153T|RIF1_uc010fnv.1_Silent_p.T117T|RIF1_uc002txn.2_Silent_p.T153T|RIF1_uc002txo.2_Silent_p.T153T|RIF1_uc010zby.1_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	153					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAGGAGAGACGCATTCTGCTG	0.299													A	152273371	G	A	152273371	2	1	23	1	0	0	0	0	0	0	0	1	13359	1074	38	1		1	RIF1	2	152273371	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	946632	152273371	90926002	213	20807											
NEB	4703	broad.mit.edu	37	chr2	152476209	152476209	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaccacattatcttggggTcatcgtgtactgctcgggcg	14	10	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:152476209T>C	uc010fnx.2	-	69	10090	c.9899A>G	c.(9898-9900)GAC>GGC	p.D3300G		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3300	Nebulin 90.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TATCTTGGGGTCATCGTGTAC	0.448													C	152476209	T	C	152476209	3	2	23	1	0	0	0	0	1	0	0	0	10302	1667	58	3	15498	3	NEB	2	152476209	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	202838	152476209	90723164	214	20808											
NEB	4703	broad.mit.edu	37	chr2	152500546	152500546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtcactctggatcttgGccacatgcatggaccacatc	8	15	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:152500546G>A	uc010fnx.2	-	57	7933	c.7742C>T	c.(7741-7743)GCC>GTC	p.A2581V		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2581	Nebulin 69.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGGATCTTGGCCACATGCAT	0.527													A	152500546	G	A	152500546	3	1	23	1	0	0	0	0	1	0	0	0	10302	1203	42	2	18448	2	NEB	2	152500546	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	24337	152500546	90698827	215	20809											
PRPF40A	55660	broad.mit.edu	37	chr2	153515706	153515706	+	Splice_Site	DEL	A	A	-													atcatctgaatctgacccctAaaaaacacaaataatttcat							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:153515705_153515705TA>T	uc002tyh.4	-	23	2432	c.2410_splice	c.e23-1	p.G804_splice	PRPF40A_uc002tyg.4_Splice_Site_p.G260_splice|PRPF40A_uc010zcd.1_Splice_Site_p.G755_splice	NM_017892	NP_060362	O75400	PR40A_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) (PRPF40A), mRNA.	831					RNA splicing|mRNA processing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						ATCTGACCCCTAAAAAACACA	0.373													-	153515706	A	-	153515706	8	5	23	1	0	1	0	1	0	0	1	0	12571	377	13	0		0	PRPF40A	2	153515706	Splice_Site	DEL	A	TCGA-BR-4368-01A-01D-1158-08	1015160	153515706	89683667	216	20810											
CYTIP	9595	broad.mit.edu	37	chr2	158272530	158272530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggagctcagccagctctTacagctgctctcactggata	9	13	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:158272530T>C	uc002tzj.1	-	8	811	c.739A>G	c.(739-741)AAG>GAG	p.K247E	CYTIP_uc010zcl.1_Missense_Mutation_p.K141E	NM_004288	NP_004279	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	247	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			ovary(1)|kidney(1)|skin(1)	3						AGCCAGCTCTTACAGCTGCTC	0.557													C	158272530	T	C	158272530	3	2	23	1	0	0	0	0	1	0	0	0	4207	1763	61	3	344	3	CYTIP	2	158272530	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	4756824	158272530	84926843	217	20811											
PKP4	8502	broad.mit.edu	37	chr2	159499197	159499197	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctattgatgcagaagtaaGggagcttgttacaggtaggt	13	4	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:159499197G>T	uc002tzv.2	+	11	2155	c.1895G>T	c.(1894-1896)AGG>ATG	p.R632M	PKP4_uc002tzt.1_Missense_Mutation_p.R484M|PKP4_uc002tzu.2_Missense_Mutation_p.R632M|PKP4_uc002tzw.2_Missense_Mutation_p.R632M|PKP4_uc002tzx.2_Missense_Mutation_p.R289M|PKP4_uc002tzy.1_Missense_Mutation_p.R290M|PKP4_uc002tzz.1_Missense_Mutation_p.R630M|PKP4_uc002uaa.2_Missense_Mutation_p.R484M	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	632	ARM 4.				cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						GCAGAAGTAAGGGAGCTTGTT	0.408										HNSCC(62;0.18)			T	159499197	G	T	159499197	3	4	23	1	0	0	0	0	1	0	0	0	11987	1000	35	5	1933	5	PKP4	2	159499197	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1226667	159499197	83700176	218	20812											
RBMS1	5937	broad.mit.edu	37	chr2	161223832	161223832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctgagttgctactgctgCtactgttgttattactgctg	9	9	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:161223832C>T	uc002ubo.2	-	2	590	c.146G>A	c.(145-147)AGC>AAC	p.S49N	RBMS1_uc002ubj.2_Missense_Mutation_p.S16N|RBMS1_uc002ubk.2_Missense_Mutation_p.S16N|RBMS1_uc002ubl.2_Missense_Mutation_p.S47N|RBMS1_uc002ubn.2_Missense_Mutation_p.S49N|RBMS1_uc002ubi.3_Missense_Mutation_p.S49N|RBMS1_uc002ubm.2_Missense_Mutation_p.S16N|RBMS1_uc002ubp.2_Missense_Mutation_p.S49N|RBMS1_uc010fox.2_Missense_Mutation_p.S49N	NM_016836	NP_058520	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting	49					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding				0						gctactgctgctactgttgtt	0.448													T	161223832	C	T	161223832	3	4	23	1	0	0	0	0	1	0	0	0	13148	797	28	2	1122	2	RBMS1	2	161223832	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1724635	161223832	81975541	219	20813											
TTC21B	79809	broad.mit.edu	37	chr2	166747406	166747406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattttgctctggagttacGtttctcagccattgagaaaa	8	8	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:166747406G>A	uc002udk.2	-	23	3176	c.3043C>T	c.(3043-3045)CGT>TGT	p.R1015C	TTC21B_uc002udj.1_RNA	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1015						cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						CTGGAGTTACGTTTCTCAGCC	0.328													A	166747406	G	A	166747406	3	1	23	1	0	0	0	0	1	0	0	0	16685	1145	40	1	935	1	TTC21B	2	166747406	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	5523574	166747406	76451967	220	20814											
NOSTRIN	115677	broad.mit.edu	37	chr2	169718513	169718513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagactttgcaaggccttGtattcttttcaagccaggca	9	10	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:169718513G>A	uc002ueg.2	+	15	1342	c.1338G>A	c.(1336-1338)TTG>TTA	p.L446L	NOSTRIN_uc002uef.2_Silent_p.L503L|NOSTRIN_uc002uei.2_Silent_p.L329L|NOSTRIN_uc010fpu.2_Silent_p.L418L|NOSTRIN_uc002ueh.2_Silent_p.L368L|NOSTRIN_uc002uej.2_Silent_p.L329L|NOSTRIN_uc002uek.2_Silent_p.L130L	NM_001039724	NP_001034813	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficker isoform 2	446	SH3.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding				0						GCAAGGCCTTGTATTCTTTTC	0.403													A	169718513	G	A	169718513	2	1	23	1	0	0	0	0	0	0	0	1	10546	1368	48	4		4	NOSTRIN	2	169718513	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2971107	169718513	73480860	221	20815											
LRP2	4036	broad.mit.edu	37	chr2	170099926	170099926	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttaccacaaccaacctcAtcagatccatcaacacaatc	1	17	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:170099926A>G	uc002ues.2	-	23	3750	c.3537T>C	c.(3535-3537)GAT>GAC	p.D1179D	LRP2_uc010zdf.1_Silent_p.D1042D	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1179	LDL-receptor class A 11.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AACCAACCTCATCAGATCCAT	0.328													G	170099926	A	G	170099926	2	3	23	1	0	0	0	0	0	0	0	1	8956	214	8	3		3	LRP2	2	170099926	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	381413	170099926	73099447	222	20816											
SP5	389058	broad.mit.edu	37	chr2	171572828	171572828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcccctggcattgctggcCgccacctgtagccgcatcgg	12	17	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:171572828C>T	uc002uge.2	+	2	277	c.111C>T	c.(109-111)GCC>GCT	p.A37A	LOC440925_uc002ugd.2_5'Flank	NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CATTGCTGGCCGCCACCTGTA	0.612													T	171572828	C	T	171572828	2	4	23	1	0	0	0	0	0	0	0	1	14967	639	23	1		1	SP5	2	171572828	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1472902	171572828	71626545	223	20817											
TTC30B	150737	broad.mit.edu	37	chr2	178416719	178416719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagttggtattctatagctGccttaaggttgaaggcttcc	10	8	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:178416719G>A	uc002uln.2	-	1	806	c.773C>T	c.(772-774)GCA>GTA	p.A258V	TTC30B_uc010zfc.1_Missense_Mutation_p.A30V	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	258					cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TTCTATAGCTGCCTTAAGGTT	0.527													A	178416719	G	A	178416719	3	1	23	1	0	0	0	0	1	0	0	0	16696	1319	46	2	1228	2	TTC30B	2	178416719	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	6843891	178416719	64782654	224	20818											
TTN	7273	broad.mit.edu	37	chr2	179397575	179397575	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cggatgcgcttgggtcgtttCtgtacaactctgtcaagttt	11	9	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:179397575C>A	uc010zfg.1	-	307	96287	c.96063G>T	c.(96061-96063)CAG>CAT	p.Q32021H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q25716H|TTN_uc010zfi.1_Missense_Mutation_p.Q25649H|TTN_uc010zfj.1_Missense_Mutation_p.Q25524H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32948							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGTCGTTTCTGTACAACTC	0.448													A	179397575	C	A	179397575	3	1	23	1	0	0	0	0	1	0	0	0	16732	912	32	5	4232	5	TTN	2	179397575	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	980856	179397575	63801798	225	20819											
TTN	7273	broad.mit.edu	37	chr2	179416834	179416834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttagtttgtgaagtttcccGcttctcgatgctgtaacaag	10	8	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:179416834G>A	uc010zfg.1	-	284	83313	c.83089C>T	c.(83089-83091)CGG>TGG	p.R27697W	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R21392W|TTN_uc010zfi.1_Missense_Mutation_p.R21325W|TTN_uc010zfj.1_Missense_Mutation_p.R21200W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28624							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAGTTTCCCGCTTCTCGATG	0.413													A	179416834	G	A	179416834	3	1	23	1	0	0	0	0	1	0	0	0	16732	1086	38	1	17298	1	TTN	2	179416834	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	19259	179416834	63782539	226	20820											
TTN	7273	broad.mit.edu	37	chr2	179422586	179422586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtaacttgacttccaccGtcatacttaggtggctccca	8	12	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:179422586G>A	uc010zfg.1	-	277	80015	c.79791C>T	c.(79789-79791)GAC>GAT	p.D26597D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.D20292D|TTN_uc010zfi.1_Silent_p.D20225D|TTN_uc010zfj.1_Silent_p.D20100D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27524							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACTTCCACCGTCATACTTAG	0.438													A	179422586	G	A	179422586	2	1	23	1	0	0	0	0	0	0	0	1	16732	1136	40	1		1	TTN	2	179422586	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	5752	179422586	63776787	227	20821											
TTN	7273	broad.mit.edu	37	chr2	179444665	179444665	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgatggttcatttgcttaCgggaagctttgacagcatca	11	7	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:179444665C>T	uc010zfg.1	-	267	59868	c.59644_splice	c.e267+1	p.Q19882_splice	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Splice_Site_p.Q13577_splice|TTN_uc010zfi.1_Splice_Site_p.Q13510_splice|TTN_uc010zfj.1_Splice_Site_p.Q13385_splice|uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTTGCTTACGGGAAGCTTT	0.413													T	179444665	C	T	179444665	5	4	23	1	0	0	0	0	0	0	1	0	16732	550	19	1	40810	1	TTN	2	179444665	Splice_Site	SNP	C	TCGA-BR-4368-01A-01D-1158-08	22079	179444665	63754708	228	20822											
TTN	7273	broad.mit.edu	37	chr2	179485716	179485716	+	Frame_Shift_Del	DEL	T	T	-													agaggaactacgatcctgagTttttctgaaagcaaccgaca							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:179485715_179485715GT>G	uc021vsy.1	-	195	38143	c.37918_37918AC>C	c.(37918-37920)ctcfs	p.L12640fs	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.L6335fs|TTN_uc021vta.1_Frame_Shift_Del_p.L6268fs|TTN_uc021vtb.1_Frame_Shift_Del_p.L6143fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13567	Ig-like 84.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGATCCTGAGTTTTTCTGAA	0.373													-	179485716	T	-	179485716	7	5	23	1	0	1	0	1	0	0	0	0	16732	1722	60	0	62536	0	TTN	2	179485716	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	41051	179485716	63713657	229	20823											
TTN	7273	broad.mit.edu	37	chr2	179542346	179542346	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attccaagaagagctgctatAcctggtgcaggtactggcac	11	10	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:179542346A>G	uc010zfg.1	-	143	30783	c.30559_splice	c.e143+1	p.V10187_splice	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Splice_Site_p.V6848_splice|TTN_uc010fre.1_Intron|TTN_uc002una.1_Splice_Site|TTN_uc010frf.1_Splice_Site	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGCTGCTATACCTGGTGCAG	0.418													G	179542346	A	G	179542346	5	3	23	1	0	0	0	0	0	0	1	0	16732	405	14	3	70104	3	TTN	2	179542346	Splice_Site	SNP	A	TCGA-BR-4368-01A-01D-1158-08	56630	179542346	63657027	230	20824											
TTN	7273	broad.mit.edu	37	chr2	179605782	179605782	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtcaagtgcttcaactgcggGaccctttaagggtgtctgtg	13	9	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:179605782G>T	uc010zfh.1	-	46	11889	c.11665C>A	c.(11665-11667)CCC>ACC	p.P3889T	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.P3822T|TTN_uc010zfj.1_Missense_Mutation_p.P3697T|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	3829							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAACTGCGGGACCCTTTAAG	0.458													T	179605782	G	T	179605782	3	4	23	1	0	0	0	0	1	0	0	0	16732	1174	41	5	92611	5	TTN	2	179605782	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	63436	179605782	63593591	231	20825											
TTN	7273	broad.mit.edu	37	chr2	179666960	179666960	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggctttagtcacggcggggAtcgtcagtttagcgcggcca	15	10	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:179666960A>T	uc002und.2	-	3	425	c.200T>A	c.(199-201)ATC>AAC	p.I67N	TTN_uc010zfg.1_Missense_Mutation_p.I67N|TTN_uc010zfh.1_Missense_Mutation_p.I67N|TTN_uc010zfi.1_Missense_Mutation_p.I67N|TTN_uc010zfj.1_Missense_Mutation_p.I67N|TTN_uc002unb.2_Missense_Mutation_p.I67N			Q8WZ42	TITIN_HUMAN	Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.	67							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACGGCGGGGATCGTCAGTTT	0.547													T	179666960	A	T	179666960	3	4	23	1	0	0	0	0	1	0	0	0	16732	333	12	5	111228	5	TTN	2	179666960	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	61178	179666960	63532413	232	20826											
ITGAV	3685	broad.mit.edu	37	chr2	187541976	187541976	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagaacaagaaagggagcAgcttcaacctcatgaaaatg	10	7	2	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:187541976A>G	uc002upq.2	+	30	3380	c.3104A>G	c.(3103-3105)CAG>CGG	p.Q1035R	ITGAV_uc010frs.2_Missense_Mutation_p.Q999R|ITGAV_uc010zfv.1_Missense_Mutation_p.Q989R	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	1035	Cytoplasmic (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GAAAGGGAGCAGCTTCAACCT	0.378													G	187541976	A	G	187541976	3	3	23	1	0	0	0	0	1	0	0	0	7888	188	7	3	3273	3	ITGAV	2	187541976	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	7875016	187541976	55657397	233	20827											
TMEFF2	23671	broad.mit.edu	37	chr2	193049182	193049183	+	Frame_Shift_Del	DEL	CA	CA	-													gtagctctccccattggagcCacacacaggcacatagtcat							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:193049181_193049182CCA>C	uc002utc.3	-	2	704_705	c.310_311TGG>G	c.(310-312)ggcfs	p.G104fs	TMEFF2_uc002utd.1_Frame_Shift_Del_p.G104fs	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.	104	Kazal-like 1.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CCCATTGGAGCCACACACAGGC	0.47													-	193049183	CA	-	193049182	7	5	23	1	0	1	0	1	0	0	0	0	16011	594	21	0	846	0	TMEFF2	2	193049182	Frame_Shift_Del	DEL	CA	TCGA-BR-4368-01A-01D-1158-08	5507206	193049182	50150191	234	20828											
DNAH7	56171	broad.mit.edu	37	chr2	196722261	196722261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccttgtcatattcatgaaGtgactgcagaaacctcatgt	8	9	3	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:196722261G>A	uc002utj.3	-	44	8355	c.8254C>T	c.(8254-8256)CTT>TTT	p.L2752F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2752	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TATTCATGAAGTGACTGCAGA	0.373													A	196722261	G	A	196722261	3	1	23	1	0	0	0	0	1	0	0	0	4606	1029	36	4	3908	4	DNAH7	2	196722261	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3673079	196722261	46477112	235	20829											
SATB2	23314	broad.mit.edu	37	chr2	200246470	200246470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagacatcttgtagcatgtcGgccactgtcgcgtcgggtgc	13	11	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:200246470G>A	uc002uuy.1	-	4	1237	c.420C>T	c.(418-420)GCC>GCT	p.A140A	SATB2_uc010fsq.1_Intron|SATB2_uc002uuz.1_Silent_p.A140A|SATB2_uc002uva.1_Silent_p.A140A	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	140						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GTAGCATGTCGGCCACTGTCG	0.463													A	200246470	G	A	200246470	2	1	23	1	0	0	0	0	0	0	0	1	13854	1103	39	1		1	SATB2	2	200246470	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3524209	200246470	42952903	236	20830											
RAPH1	65059	broad.mit.edu	37	chr2	204304285	204304285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccttctgttgatcagacaGcagttcagggggtggtggag	16	7	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:204304285G>A	uc002vad.2	-	14	3853	c.3628C>T	c.(3628-3630)CTG>TTG	p.L1210L		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	1210					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						TGATCAGACAGCAGTTCAGGG	0.567													A	204304285	G	A	204304285	2	1	23	1	0	0	0	0	0	0	0	1	13050	962	34	2		2	RAPH1	2	204304285	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	4057815	204304285	38895088	237	20831											
CD28	940	broad.mit.edu	37	chr2	204591543	204591543	+	Frame_Shift_Del	DEL	A	A	-													cagcagcttcaggtttactcAaaaacggggttcaactgtga							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:204591542_204591542CA>C	uc002vah.4	+	1	461	c.239_239CA>C	c.(238-240)tcafs	p.S80fs	CD28_uc010zio.2_Intron|CD28_uc010ftx.3_Intron|CD28_uc002vaj.4_Intron|CD28_uc002vag.1_Intron	NM_006139	NP_006130	P10747	CD28_HUMAN	Homo sapiens CD28 molecule (CD28), transcript variant 1, mRNA.	80	Ig-like V-type.				T cell costimulation|cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	SH3/SH2 adaptor activity|coreceptor activity|protease binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CAGGTTTACTCAAAAACGGGG	0.428													-	204591543	A	-	204591543	7	5	23	1	0	1	0	1	0	0	0	0	2993	117	5	0	246	0	CD28	2	204591543	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	287258	204591543	38607830	238	20832											
PARD3B	117583	broad.mit.edu	37	chr2	205990401	205990401	+	Frame_Shift_Del	DEL	G	G	-													atgctcaggagcaccaagcaGggggagacagcatcgctggt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:205990400_205990400AG>A	uc002var.2	+	9	1580	c.1373_1373AG>A	c.(1372-1374)cagfs	p.Q458fs	PARD3B_uc010fub.2_Frame_Shift_Del_p.Q458fs|PARD3B_uc002vao.2_Frame_Shift_Del_p.Q458fs|PARD3B_uc002vap.2_Frame_Shift_Del_p.Q458fs|PARD3B_uc002vaq.2_Frame_Shift_Del_p.Q458fs	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	458	PDZ 2.				cell cycle|cell division	endomembrane system|tight junction		p.T457T(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AGCACCAAGCAGGGGGAGACA	0.493													-	205990401	G	-	205990401	7	5	23	1	0	1	0	1	0	0	0	0	11444	991	35	0	1412	0	PARD3B	2	205990401	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	1398858	205990401	37208972	239	20833											
ABCA12	26154	broad.mit.edu	37	chr2	215809820	215809820	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcggatccatgccagagctCggctcatccttaatagaaag	9	11	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:215809820C>T	uc002vew.2	-	49	7468	c.7248G>A	c.(7246-7248)CCG>CCA	p.P2416P	ABCA12_uc002vev.2_Silent_p.P2098P|ABCA12_uc010zjn.1_Silent_p.P1343P	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	2416	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGCCAGAGCTCGGCTCATCCT	0.368													T	215809820	C	T	215809820	2	4	23	1	0	0	0	0	0	0	0	1	30	871	31	1		1	ABCA12	2	215809820	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	9819419	215809820	27389553	240	20834											
ABCA12	26154	broad.mit.edu	37	chr2	215843717	215843717	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgtgattggatcattgcTgtcacggccatggtgtcaca	12	8	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:215843717T>C	uc002vew.2	-	32	5008	c.4788A>G	c.(4786-4788)ACA>ACG	p.T1596T	ABCA12_uc002vev.2_Silent_p.T1278T|ABCA12_uc010zjn.1_Silent_p.T523T	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1596					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGATCATTGCTGTCACGGCCA	0.443													C	215843717	T	C	215843717	2	2	23	1	0	0	0	0	0	0	0	1	30	1567	55	3		3	ABCA12	2	215843717	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	33897	215843717	27355656	241	20835											
SMARCAL1	50485	broad.mit.edu	37	chr2	217280167	217280167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgtaaggaacggcgatcGtttccaggtgttgattgggt	16	6	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:217280167G>A	uc002vgc.3	+	3	1070	c.740G>A	c.(739-741)CGT>CAT	p.R247H	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.R247H|SMARCAL1_uc010fvg.2_Missense_Mutation_p.R247H	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	247					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AACGGCGATCGTTTCCAGGTG	0.468									Schimke_Immuno-Osseous_Dysplasia				A	217280167	G	A	217280167	3	1	23	1	0	0	0	0	1	0	0	0	14773	1145	40	1	742	1	SMARCAL1	2	217280167	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1436450	217280167	25919206	242	20836											
SLC11A1	6556	broad.mit.edu	37	chr2	219259385	219259385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtcacctcttccatcatGgtgctagtctgcgccatcaa	8	14	5	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:219259385G>A	uc002vhv.2	+	14	1759	c.1419G>A	c.(1417-1419)ATG>ATA	p.M473I	SLC11A1_uc010zkc.1_Missense_Mutation_p.M406I|SLC11A1_uc002vhu.1_Missense_Mutation_p.M268I|SLC11A1_uc002vhw.2_Missense_Mutation_p.M355I|SLC11A1_uc010fvr.2_Missense_Mutation_p.M268I	NM_000578	NP_000569	P49279	NRAM1_HUMAN	natural resistance-associated macrophage protein	473	Helical; (Potential).				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			ovary(3)|central_nervous_system(1)	4		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCCATCATGGTGCTAGTCT	0.607													A	219259385	G	A	219259385	3	1	23	1	0	0	0	0	1	0	0	0	14380	1348	47	4	1473	4	SLC11A1	2	219259385	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1979218	219259385	23939988	243	20837											
STK36	27148	broad.mit.edu	37	chr2	219562280	219562280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatggaagtatcctcatGtccatcctgaagcatctgct	8	12	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:219562280G>A	uc002viu.2	+	24	3122	c.2856G>A	c.(2854-2856)ATG>ATA	p.M952I	STK36_uc002viv.2_Missense_Mutation_p.M931I|STK36_uc002viw.2_Missense_Mutation_p.M130I|STK36_uc002vix.2_Missense_Mutation_p.V14I	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	952					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GTATCCTCATGTCCATCCTGA	0.582													A	219562280	G	A	219562280	3	1	23	1	0	0	0	0	1	0	0	0	15301	1377	48	4	2946	4	STK36	2	219562280	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	302895	219562280	23637093	244	20838											
WNT6	7475	broad.mit.edu	37	chr2	219736229	219736229	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcgggagacggccttcgtGttcgccatcactgcggccgg	14	13	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:219736229G>A	uc002vjc.1	+	3	539	c.324G>A	c.(322-324)GTG>GTA	p.V108V		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family,	108					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			ovary(2)|skin(1)	3		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCCTTCGTGTTCGCCATCA	0.612													A	219736229	G	A	219736229	2	1	23	1	0	0	0	0	0	0	0	1	17390	1364	48	4		4	WNT6	2	219736229	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	173949	219736229	23463144	245	20839											
WNT10A	80326	broad.mit.edu	37	chr2	219745808	219745808	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcctgttcttcctactgCtgctggctgctgccatgccc	9	16	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:219745808C>T	uc002vjd.1	+	1	554	c.91C>T	c.(91-93)CTG>TTG	p.L31L		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family,	31					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			lung(1)|skin(1)	2		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCCTACTGCTGCTGGCTGC	0.711													T	219745808	C	T	219745808	2	4	23	1	0	0	0	0	0	0	0	1	17379	796	28	2		2	WNT10A	2	219745808	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	9579	219745808	23453565	246	20840											
WNT10A	80326	broad.mit.edu	37	chr2	219754704	219754704	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttctgggtctttaaccacAggtttccgagagagcgcttt	11	9	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:219754704A>G	uc002vjd.1	+	3	840	c.377_splice	c.e3-2	p.G126_splice		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family,						anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			lung(1)|skin(1)	2		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTTAACCACAGGTTTCCGAG	0.378													G	219754704	A	G	219754704	5	3	23	1	0	0	0	0	0	0	1	0	17379	202	7	3	385	3	WNT10A	2	219754704	Splice_Site	SNP	A	TCGA-BR-4368-01A-01D-1158-08	8896	219754704	23444669	247	20841											
SPEG	10290	broad.mit.edu	37	chr2	220326765	220326765	+	Frame_Shift_Del	DEL	C	C	-													ctgacactggctccaaggcaCcccccaccttcaaggtcaga							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:220326764_220326764AC>A	uc010fwg.3	+	6	2601	c.2601_2601AC>A	c.(2599-2601)gcafs	p.A867fs	SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_Frame_Shift_Del_p.A75fs|SPEG_uc002vln.1_Frame_Shift_Del_p.A75fs|SPEG_uc002vlp.1_Frame_Shift_Del_p.A75fs|SPEG_uc002vlq.3_Frame_Shift_Del_p.A18fs	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	867					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCTCCAAGGCACCCCCCACCT	0.652													-	220326765	C	-	220326765	7	5	23	1	0	1	0	1	0	0	0	0	15035	507	18	0	2628	0	SPEG	2	220326765	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	572061	220326765	22872608	248	20842											
ACCN4	55515	broad.mit.edu	37	chr2	220396848	220396848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgtcctgccaggaacagCgggtgagcatctcctgctag	13	11	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:220396848C>T	uc002vma.2	+	3	1248	c.1234C>T	c.(1234-1236)CGG>TGG	p.R412W	ACCN4_uc010fwi.1_Missense_Mutation_p.R412W|ACCN4_uc010fwj.1_Missense_Mutation_p.R412W|ACCN4_uc002vly.1_Missense_Mutation_p.R412W|ACCN4_uc002vlz.2_Missense_Mutation_p.R412W|ACCN4_uc002vmb.2_Missense_Mutation_p.R66W	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN	amiloride-sensitive cation channel 4 isoform 2	412	Extracellular (Potential).					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity			ovary(2)	2		Renal(207;0.0183)		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)		CCAGGAACAGCGGGTGAGCAT	0.632													T	220396848	C	T	220396848	3	4	23	1	0	0	0	0	1	0	0	0	131	759	27	1	1244	1	ACCN4	2	220396848	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	70083	220396848	22802525	249	20843											
INHA	3623	broad.mit.edu	37	chr2	220439886	220439886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggtctccctctgctctgCgcctgctgcagaggcctccg	11	17	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:220439886C>T	uc002vmk.1	+	2	883	c.739C>T	c.(739-741)CGC>TGC	p.R247C		NM_002191	NP_002182	P05111	INHA_HUMAN	inhibin alpha subunit precursor	247					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTCTGCTCTGCGCCTGCTGCA	0.642													T	220439886	C	T	220439886	3	4	23	1	0	0	0	0	1	0	0	0	7740	768	27	1	745	1	INHA	2	220439886	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	43038	220439886	22759487	250	20844											
SLC4A3	6508	broad.mit.edu	37	chr2	220500084	220500084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagcattgtgatcccccCgtccgaggtggagggccgtg	16	12	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:220500084C>T	uc002vmp.3	+	13	2107	c.1838C>T	c.(1837-1839)CCG>CTG	p.P613L	SLC4A3_uc002vmo.3_Missense_Mutation_p.P640L|SLC4A3_uc010fwm.2_Missense_Mutation_p.P163L|SLC4A3_uc010fwn.1_Missense_Mutation_p.P122L	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	613	Cytoplasmic.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGATCCCCCCGTCCGAGGTG	0.612													T	220500084	C	T	220500084	3	4	23	1	0	0	0	0	1	0	0	0	14655	652	23	1	1965	1	SLC4A3	2	220500084	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	60198	220500084	22699289	251	20845											
GPR55	9290	broad.mit.edu	37	chr2	231775249	231775249	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaccaggacccagatggtGcagcagatcccaaagatctt	9	13	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:231775249G>A	uc002vrg.2	-	2	622	c.429C>T	c.(427-429)TGC>TGT	p.C143C	GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Silent_p.C143C	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	143	Helical; Name=4; (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		CCCAGATGGTGCAGCAGATCC	0.527													A	231775249	G	A	231775249	2	1	23	1	0	0	0	0	0	0	0	1	6699	1311	46	2		2	GPR55	2	231775249	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	11275165	231775249	11424124	252	20846											
ALPPL2	251	broad.mit.edu	37	chr2	233274566	233274566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccttgctgctgctggggaCggccactgctccctgagtgt	14	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:233274566C>T	uc002vss.3	+	11	1636	c.1583C>T	c.(1582-1584)ACG>ATG	p.T528M		NM_031313	NP_112603	P10696	PPBN_HUMAN	placental-like alkaline phosphatase	528					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			skin(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CTGCTGGGGACGGCCACTGCT	0.736													T	233274566	C	T	233274566	3	4	23	1	0	0	0	0	1	0	0	0	549	536	19	1	1625	1	ALPPL2	2	233274566	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1499317	233274566	9924807	253	20847											
ECEL1	9427	broad.mit.edu	37	chr2	233349233	233349233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctgcatgtagtctgtcGccagcagcaccacctcctct	8	17	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:233349233G>A	uc002vsv.2	-	6	1338	c.1133C>T	c.(1132-1134)GCG>GTG	p.A378V	ECEL1_uc010fya.1_Missense_Mutation_p.A378V|ECEL1_uc010fyb.1_Missense_Mutation_p.A85V	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	378	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GTAGTCTGTCGCCAGCAGCAC	0.582													A	233349233	G	A	233349233	3	1	23	1	0	0	0	0	1	0	0	0	4891	1087	38	1	1246	1	ECEL1	2	233349233	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	74667	233349233	9850140	254	20848											
UGT1A1	54658	broad.mit.edu	37	chr2	234668982	234668982	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttgtcctgggcctgctgCtgtgtgtgctgggcccagtg	15	12	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:234668982C>T	uc002vvb.2	+	1	64	c.49C>T	c.(49-51)CTG>TTG	p.L17L	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Silent_p.L17L	NM_000463	NP_000454	P22309	UD11_HUMAN	UDP glycosyltransferase 1 family, polypeptide A1	17					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			central_nervous_system(1)|skin(1)	2		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GGGCCTGCTGCTGTGTGTGCT	0.592											OREG0003837	type=REGULATORY REGION|Gene=UGT1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	234668982	C	T	234668982	2	4	23	1	0	0	0	0	0	0	0	1	16941	796	28	2		2	UGT1A1	2	234668982	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1319749	234668982	8530391	255	20849											
COL6A3	1293	broad.mit.edu	37	chr2	238289604	238289604	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggtgccagcaagccaggCagcatgccttgcaatggggc	15	11	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:238289604C>T	uc002vwl.2	-	5	2136	c.1851G>A	c.(1849-1851)CTG>CTA	p.L617L	COL6A3_uc002vwo.2_Silent_p.L411L|COL6A3_uc010znj.1_Silent_p.L210L|COL6A3_uc002vwq.2_Silent_p.L411L|COL6A3_uc002vwr.2_Silent_p.L210L|COL6A3_uc010znk.1_Silent_p.L617L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	617	VWFA 3.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCAAGCCAGGCAGCATGCCTT	0.597													T	238289604	C	T	238289604	2	4	23	1	0	0	0	0	0	0	0	1	3701	697	25	2		2	COL6A3	2	238289604	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3620622	238289604	4909769	256	20850											
RNPEPL1	57140	broad.mit.edu	37	chr2	241516387	241516387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctgacctccacagggtgCggcgcttcctggagagccag	13	14	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:241516387C>T	uc002vzi.2	+	10	1764	c.1171C>T	c.(1171-1173)CGG>TGG	p.R391W	RNPEPL1_uc010fzf.2_Missense_Mutation_p.R297W|RNPEPL1_uc002vzj.2_Missense_Mutation_p.R39W	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like	391					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCACAGGGTGCGGCGCTTCCT	0.647													T	241516387	C	T	241516387	3	4	23	1	0	0	0	0	1	0	0	0	13510	759	27	1	1201	1	RNPEPL1	2	241516387	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3226783	241516387	1682986	257	20851											
PASK	23178	broad.mit.edu	37	chr2	242065690	242065690	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcaggccagcagccccGcgcatcacgatcacgggcgt	13	17	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:242065690G>A	uc002wao.1	-	10	2732	c.2640C>T	c.(2638-2640)CGC>CGT	p.R880R	PASK_uc010zol.1_Silent_p.R694R|PASK_uc010zom.1_Silent_p.R845R|PASK_uc010fzl.1_Silent_p.R880R|PASK_uc010zon.1_Silent_p.R661R|PASK_uc002wap.2_Silent_p.R423R|PASK_uc002waq.2_Silent_p.R880R	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	880					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CAGCAGCCCCGCGCATCACGA	0.642													A	242065690	G	A	242065690	2	1	23	1	0	0	0	0	0	0	0	1	11472	1074	38	1		1	PASK	2	242065690	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	549303	242065690	1133683	258	20852											
PASK	23178	broad.mit.edu	37	chr2	242079329	242079329	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacaccaccgcagcgtggcCgtcggcctccatgtgctcct	10	17	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:242079329C>A	uc002wao.1	-	4	663	c.571G>T	c.(571-573)GGC>TGC	p.G191C	PASK_uc010zol.1_Intron|PASK_uc010zom.1_Missense_Mutation_p.G191C|PASK_uc010fzl.1_Missense_Mutation_p.G191C|PASK_uc010zon.1_Intron|PASK_uc002waq.2_Missense_Mutation_p.G191C	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	191					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCAGCGTGGCCGTCGGCCTCC	0.607													A	242079329	C	A	242079329	3	1	23	1	0	0	0	0	1	0	0	0	11472	652	23	5	3460	5	PASK	2	242079329	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	13639	242079329	1120044	259	20853											
CHL1	10752	broad.mit.edu	37	chr3	447269	447269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacagcttagtcgaatacGgagagggagaccatggtctc	13	9	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:447269G>A	uc003bou.2	+	27	3773	c.3502G>A	c.(3502-3504)GGA>AGA	p.G1168R	CHL1_uc003bot.2_Missense_Mutation_p.G1184R|CHL1_uc011asi.1_Missense_Mutation_p.G1131R	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	1168	Cytoplasmic (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGTCGAATACGGAGAGGGAGA	0.458													A	447269	G	A	447269	3	1	23	1	0	0	0	0	1	0	0	0	3349	1117	39	1	3652	1	CHL1	3	447269	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08		447269	197575161	260	20854											
CNTN6	27255	broad.mit.edu	37	chr3	1339624	1339624	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgcgttttcctgaaactaTacaagctgcaaaggattcat	8	8	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:1339624T>C	uc003boz.2	+	7	977	c.710T>C	c.(709-711)ATA>ACA	p.I237T	CNTN6_uc010hbo.2_Missense_Mutation_p.I232T|CNTN6_uc011asj.1_Missense_Mutation_p.I165T|CNTN6_uc003bpa.2_Missense_Mutation_p.I237T	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	237	Ig-like C2-type 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CCTGAAACTATACAAGCTGCA	0.323													C	1339624	T	C	1339624	3	2	23	1	0	0	0	0	1	0	0	0	3645	1406	49	3	732	3	CNTN6	3	1339624	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	892355	1339624	196682806	261	20855											
SETD5	55209	broad.mit.edu	37	chr3	9517295	9517296	+	Frame_Shift_Ins	INS	-	-	C													ctgcactgagacctggaaacINScccccctctcacggttcttc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:9517294_9517295A>AC	uc003brt.3	+	22	4283_4284	c.3848_3849A>AC	c.(3847-3849)aacfs	p.N1283fs	SETD5_uc003bru.3_Frame_Shift_Ins_p.N1185fs|SETD5_uc003brv.3_Frame_Shift_Ins_p.N1172fs|SETD5_uc010hck.3_Frame_Shift_Ins_p.N765fs|SETD5_uc003brx.3_Frame_Shift_Ins_p.N952fs	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	1283	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGACCTGGAAACCCCCCCTCTC	0.55													C	9517296	-	C	9517295	7	5	23	1	0	1	1	0	0	0	0	0	14134	506	18	0	3931	0	SETD5	3	9517295	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	8177671	9517295	188505135	262	20856											
BRPF1	7862	broad.mit.edu	37	chr3	9784805	9784805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaccgggcagcagtgcggCttcgtgagcagggtggtgct	17	10	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:9784805C>T	uc003bse.2	+	7	2560	c.2161C>T	c.(2161-2163)CTT>TTT	p.L721F	BRPF1_uc003bsf.2_Missense_Mutation_p.L727F|BRPF1_uc003bsg.2_Missense_Mutation_p.L721F|BRPF1_uc011ati.1_Missense_Mutation_p.L721F	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	721	Required for RUNX1 and RUNX2 transcriptional activation.|Interaction with MEAF6 and ING5.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					AGCAGTGCGGCTTCGTGAGCA	0.562													T	9784805	C	T	9784805	3	4	23	1	0	0	0	0	1	0	0	0	1520	797	28	2	2201	2	BRPF1	3	9784805	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	267510	9784805	188237625	263	20857											
BRPF1	7862	broad.mit.edu	37	chr3	9786077	9786077	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacggaggcagtcctgtgggGcccccccagctccccatcat	11	18	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:9786077G>C	uc003bse.2	+	9	3186	c.2787G>C	c.(2785-2787)GGG>GGC	p.G929G	BRPF1_uc003bsf.2_Silent_p.G935G|BRPF1_uc003bsg.2_Silent_p.G928G|BRPF1_uc011ati.1_Intron	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	929	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					GTCCTGTGGGGCCCCCCCAGC	0.662													C	9786077	G	C	9786077	2	2	23	1	0	0	0	0	0	0	0	1	1520	1190	42	5		5	BRPF1	3	9786077	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1272	9786077	188236353	264	20858											
FANCD2	2177	broad.mit.edu	37	chr3	10133927	10133927	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacttcagtatcctcatcaaCttgataaaggtgagtatgga	9	7	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:10133927C>G	uc003buw.2	+	38	3918	c.3840C>G	c.(3838-3840)AAC>AAG	p.N1280K	FANCD2_uc003bux.1_Missense_Mutation_p.N1280K|FANCD2_uc003buy.1_Missense_Mutation_p.N1280K|FANCD2_uc010hcw.1_RNA|C3orf24_uc003buz.2_Intron	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	1280					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TCCTCATCAACTTGATAAAGG	0.458			D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				G	10133927	C	G	10133927	3	3	23	1	0	0	0	0	1	0	0	0	5665	564	20	5	3986	5	FANCD2	3	10133927	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	347850	10133927	187888503	265	20859											
NUP210	23225	broad.mit.edu	37	chr3	13367333	13367333	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccagcgacctcatagtAaaccgtcacggatcccacgg	10	15	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:13367333A>G	uc003bxv.1	-	33	4689	c.4606T>C	c.(4606-4608)TAC>CAC	p.Y1536H		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1536	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					ACCTCATAGTAAACCGTCACG	0.642													G	13367333	A	G	13367333	3	3	23	1	0	0	0	0	1	0	0	0	10760	362	13	3	1089	3	NUP210	3	13367333	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	3233406	13367333	184655097	266	20860											
GRIP2	80852	broad.mit.edu	37	chr3	14538015	14538015	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctctgccaaggccggtgGccaggcctgccctcgagggc	14	18	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:14538015G>A	uc011avi.1	-	23	3027	c.3027C>T	c.(3025-3027)GGC>GGT	p.G1009G	GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Silent_p.G540G	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	911					synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1						AAGGCCGGTGGCCAGGCCTGC	0.572													A	14538015	G	A	14538015	2	1	23	1	0	0	0	0	0	0	0	1	6788	1190	42	2		2	GRIP2	3	14538015	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1170682	14538015	183484415	267	20861											
SGOL1	151648	broad.mit.edu	37	chr3	20215937	20215939	+	In_Frame_Del	DEL	GTT	GTT	-													cagaggctcacttcagactcGttgttttcttctctattaga							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:20215936_20215938CGTT>C	uc003cbu.3	-	5	1240_1242	c.1085_1087AACG>G	c.(1084-1089)aacgag>aGag	p.362_363NE>R	SGOL1_uc003cbw.3_Intron|SGOL1_uc003cbv.3_Intron|SGOL1_uc003cbt.3_Intron|SGOL1_uc010hfa.3_Intron|SGOL1_uc003cbs.3_In_Frame_Del_p.362_363NE>R|SGOL1_uc003cbr.3_Intron|SGOL1_uc003ccc.3_Intron|SGOL1_uc021wtx.1_Intron|SGOL1_uc021wty.1_Intron|SGOL1_uc003ccb.3_Intron|SGOL1_uc003cca.3_In_Frame_Del_p.362_363NE>R|SGOL1_uc003cby.3_Intron|SGOL1_uc003cbx.3_Intron|SGOL1_uc003cbz.3_In_Frame_Del_p.362_363NE>R	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN	Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.	362					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						ACTTCAGACTCGTTGTTTTCTTC	0.414													-	20215939	GTT	-	20215937	7	5	23	1	0	1	0	1	0	0	0	0	14216	1136	40	0	635	0	SGOL1	3	20215937	In_Frame_Del	DEL	GTT	TCGA-BR-4368-01A-01D-1158-08	5677922	20215937	177806493	268	20862											
NEK10	152110	broad.mit.edu	37	chr3	27161323	27161323	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggtaatctgctgtgaaaaAgttgggctcaatcggttctg	12	6	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:27161323A>G	uc010hfk.2	-	14	1454	c.1225T>C	c.(1225-1227)TTT>CTT	p.F409L	NEK10_uc010hfj.2_Missense_Mutation_p.F352L			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	1097							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						GCTGTGAAAAAGTTGGGCTCA	0.428													G	27161323	A	G	27161323	3	3	23	1	0	0	0	0	1	0	0	0	10322	87	3	3		3	NEK10	3	27161323	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	6945386	27161323	170861107	269	20863											
RBMS3	27303	broad.mit.edu	37	chr3	29781250	29781250	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaacctatacatctcaaatCtccccatttctatggatgag	4	12	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:29781250C>A	uc003cel.2	+	5	669	c.439C>A	c.(439-441)CTC>ATC	p.L147I	RBMS3_uc003cek.2_Missense_Mutation_p.L147I|RBMS3_uc010hfq.2_Missense_Mutation_p.L147I|RBMS3_uc003cem.2_Missense_Mutation_p.L146I|RBMS3_uc010hfr.2_Missense_Mutation_p.L147I	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	147	RRM 2.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				CATCTCAAATCTCCCCATTTC	0.393													A	29781250	C	A	29781250	3	1	23	1	0	0	0	0	1	0	0	0	13150	913	32	5	457	5	RBMS3	3	29781250	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2619927	29781250	168241180	270	20864											
GPD1L	23171	broad.mit.edu	37	chr3	32200470	32200470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggaaatgattgcttttGccaggatcttctgcaaaggc	10	8	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:32200470G>A	uc003cew.2	+	6	781	c.721G>A	c.(721-723)GCC>ACC	p.A241T		NM_015141	NP_055956	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	241					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity				0						GATTGCTTTTGCCAGGATCTT	0.597													A	32200470	G	A	32200470	3	1	23	1	0	0	0	0	1	0	0	0	6605	1319	46	2	743	2	GPD1L	3	32200470	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2419220	32200470	165821960	271	20865											
SUSD5	26032	broad.mit.edu	37	chr3	33195131	33195131	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accttggtttcaggttcaccTgggaccaattttacaccact	7	12	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:33195131T>G	uc003cfo.1	-	5	1411	c.993A>C	c.(991-993)CCA>CCC	p.P331P		NM_015551	NP_056366	O60279	SUSD5_HUMAN	sushi domain containing 5 precursor	331	Extracellular (Potential).				cell adhesion	integral to membrane	hyaluronic acid binding			ovary(1)|central_nervous_system(1)	2						CAGGTTCACCTGGGACCAATT	0.517													G	33195131	T	G	33195131	2	3	23	1	0	0	0	0	0	0	0	1	15408	1567	55	5		5	SUSD5	3	33195131	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	994661	33195131	164827299	272	20866											
PDCD6IP	10015	broad.mit.edu	37	chr3	33887074	33887074	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaaagaccatgcagggCagtgaggtaagaaggacact	13	9	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:33887074C>T	uc003cfx.2	+	12	1790	c.1635C>T	c.(1633-1635)GGC>GGT	p.G545G	PDCD6IP_uc003cfy.2_Silent_p.G550G|PDCD6IP_uc011axw.1_Silent_p.G326G	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	545	Interaction with EIAV p9.|Self-association.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2						CCATGCAGGGCAGTGAGGTAA	0.438													T	33887074	C	T	33887074	2	4	23	1	0	0	0	0	0	0	0	1	11624	697	25	2		2	PDCD6IP	3	33887074	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	691943	33887074	164135356	273	20867											
STAC	6769	broad.mit.edu	37	chr3	36485060	36485060	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggtctgcatccaggtggcAaggctcatgcctttcaggaa	12	11	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:36485060A>G	uc003cgh.1	+	2	355	c.316A>G	c.(316-318)AAG>GAG	p.K106E	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.K106E	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	106					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						TCCAGGTGGCAAGGCTCATGC	0.572													G	36485060	A	G	36485060	3	3	23	1	0	0	0	0	1	0	0	0	15238	131	5	3	322	3	STAC	3	36485060	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	2597986	36485060	161537370	274	20868											
TRANK1	9881	broad.mit.edu	37	chr3	36884133	36884133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccagcactggtgcttggCgtagtaatctccctgtgcaa	10	12	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:36884133C>T	uc003cgj.2	-	8	3780	c.3478G>A	c.(3478-3480)GCC>ACC	p.A1160T		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1710	TPR 3.				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TGGTGCTTGGCGTAGTAATCT	0.488													T	36884133	C	T	36884133	3	4	23	1	0	0	0	0	1	0	0	0	16451	768	27	1	3677	1	TRANK1	3	36884133	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	399073	36884133	161138297	275	20869											
ITGA9	3680	broad.mit.edu	37	chr3	37574834	37574834	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtcattacggtggatgtctCcatcttcctcccgggctcca	9	14	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:37574834C>A	uc003chd.2	+	14	1456	c.1403C>A	c.(1402-1404)TCC>TAC	p.S468Y	ITGA9_uc003chc.2_Missense_Mutation_p.S468Y	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	468	Extracellular (Potential).|FG-GAP 7.				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GTGGATGTCTCCATCTTCCTC	0.547													A	37574834	C	A	37574834	3	1	23	1	0	0	0	0	1	0	0	0	7883	855	30	5	1457	5	ITGA9	3	37574834	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	690701	37574834	160447596	276	20870											
VILL	50853	broad.mit.edu	37	chr3	38048186	38048186	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agggcgtggaccctgcccgcAgggaggtgggcaccccctca	16	15	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:38048186A>C	uc003chj.2	+	19	2738	c.2452A>C	c.(2452-2454)AGG>CGG	p.R818R	VILL_uc003chl.2_Silent_p.R818R	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	818	HP.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCCTGCCCGCAGGGAGGTGGG	0.672													C	38048186	A	C	38048186	2	2	23	1	0	0	0	0	0	0	0	1	17162	179	7	5		5	VILL	3	38048186	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	473352	38048186	159974244	277	20871											
SCN10A	6336	broad.mit.edu	37	chr3	38763831	38763831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatacggtagcaagtcttgCgcacctgccagcccacatcc	9	16	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:38763831C>T	uc003ciq.2	-	19	3425	c.3425G>A	c.(3424-3426)CGC>CAC	p.R1142H		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1142					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCAAGTCTTGCGCACCTGCCA	0.552													T	38763831	C	T	38763831	3	4	23	1	0	0	0	0	1	0	0	0	13912	768	27	1	2481	1	SCN10A	3	38763831	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	715645	38763831	159258599	278	20872											
TTC21A	199223	broad.mit.edu	37	chr3	39170206	39170206	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactctgctgtgctcctcctAggtccgagatcaccccctct	7	18	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:39170206A>G	uc003cjc.2	+	14	1879	c.1702_splice	c.e14-2	p.V568_splice	TTC21A_uc003cje.2_Splice_Site_p.V569_splice|TTC21A_uc003cjd.2_Splice_Site|TTC21A_uc011ayx.1_Splice_Site_p.V520_splice	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2								binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGCTCCTCCTAGGTCCGAGAT	0.567													G	39170206	A	G	39170206	5	3	23	1	0	0	0	0	0	0	1	0	16684	434	15	3	1757	3	TTC21A	3	39170206	Splice_Site	SNP	A	TCGA-BR-4368-01A-01D-1158-08	406375	39170206	158852224	279	20873											
KBTBD5	131377	broad.mit.edu	37	chr3	42727821	42727821	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgcctttctggaaagccgCgtggagcgccaccctctcgt	12	16	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:42727821C>T	uc003clv.1	+	1	811	c.711C>T	c.(709-711)CGC>CGT	p.R237R		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	237	BACK.									ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TGGAAAGCCGCGTGGAGCGCC	0.706													T	42727821	C	T	42727821	2	4	23	1	0	0	0	0	0	0	0	1	7996	755	27	1		1	KBTBD5	3	42727821	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3557615	42727821	155294609	280	20874											
CCBP2	1238	broad.mit.edu	37	chr3	42906869	42906869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagccagcatctagactAcgcactccaggtaacagaga	10	12	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:42906869A>G	uc003cme.2	+	3	1054	c.875A>G	c.(874-876)TAC>TGC	p.Y292C	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmf.2_Missense_Mutation_p.Y292C|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron	NM_001296	NP_001287	O00590	CCBP2_HUMAN	chemokine binding protein 2	292	Extracellular (Potential).				chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity	p.Y292Y(1)		lung(4)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CATCTAGACTACGCACTCCAG	0.522													G	42906869	A	G	42906869	3	3	23	1	0	0	0	0	1	0	0	0	2734	391	14	3	877	3	CCBP2	3	42906869	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	179048	42906869	155115561	281	20875											
CYP8B1	1582	broad.mit.edu	37	chr3	42916264	42916264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggtgcagccctcagccGcagcgtctcctccaccacgc	12	18	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:42916264G>A	uc003cmh.2	-	1	1370	c.1045C>T	c.(1045-1047)CGG>TGG	p.R349W	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.R349W	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B,	349					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GCCCTCAGCCGCAGCGTCTCC	0.587													A	42916264	G	A	42916264	3	1	23	1	0	0	0	0	1	0	0	0	4198	1086	38	1	464	1	CYP8B1	3	42916264	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	9395	42916264	155106166	282	20876											
LARS2	23395	broad.mit.edu	37	chr3	45527192	45527192	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcattttcagattgcctcAcgcctgtaatggctgtgaac	8	11	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:45527192A>G	uc003cop.1	+	11	1212	c.1027A>G	c.(1027-1029)ACG>GCG	p.T343A	LARS2_uc010hit.1_Missense_Mutation_p.T300A	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	343					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AGATTGCCTCACGCCTGTAAT	0.453													G	45527192	A	G	45527192	3	3	23	1	0	0	0	0	1	0	0	0	8635	159	6	3	1061	3	LARS2	3	45527192	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	2610928	45527192	152495238	283	20877											
PRSS50	29122	broad.mit.edu	37	chr3	46754421	46754421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccctgtgggtgtcctcCgcacacatcatctgggactt	9	14	3	0	rs138214038	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:46754421C>T	uc003cqe.1	-	5	950	c.891G>A	c.(889-891)GCG>GCA	p.A297A	PRSS50_uc003cqf.1_Silent_p.A211A	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	testes-specific protease 50 precursor	297	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity				0						GGGTGTCCTCCGCACACATCA	0.488													T	46754421	C	T	46754421	2	4	23	1	0	0	0	0	0	0	0	1	12631	639	23	1		1	PRSS50	3	46754421	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1227229	46754421	151268009	284	20878											
SETD2	29072	broad.mit.edu	37	chr3	47084146	47084146	+	Frame_Shift_Del	DEL	G	G	-													gtttttggtttgggaggagaGgggggcggcagatccaagag							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:47084145_47084145AG>A	uc003cqv.3	-	17	7431	c.7345_7345CT>T	c.(7345-7347)tctfs	p.S2449fs	SETD2_uc003cqs.3_Frame_Shift_Del_p.S2382fs|SETD2_uc003cqr.3_5'UTR	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	2382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.P2380fs(2)|p.P1877fs(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTGGGAGGAGAGGGGGGCGGC	0.428			"N, F, S, Mis"		clear cell renal carcinoma								-	47084146	G	-	47084146	7	5	23	1	0	1	0	1	0	0	0	0	14131	987	35	0	571	0	SETD2	3	47084146	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	329725	47084146	150938284	285	20879											
KIF9	64147	broad.mit.edu	37	chr3	47316957	47316957	+	Frame_Shift_Del	DEL	T	T	-													acaactcctctccgaatgtcTttttttaagtgaatatcaat							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:47316956_47316956CT>C	uc010hjp.3	-	3	722	c.118_118AG>G	c.(118-120)gacfs	p.D40fs	KIF9_uc003cqx.3_Frame_Shift_Del_p.D40fs|KIF9_uc003cqy.3_Frame_Shift_Del_p.D40fs|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript|KIF9_uc003cra.4_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	40	Kinesin-motor.				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTCCGAATGTCTTTTTTTAAG	0.363													-	47316957	T	-	47316957	7	5	23	1	0	1	0	1	0	0	0	0	8310	1606	56	0	2331	0	KIF9	3	47316957	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	232811	47316957	150705473	286	20880											
PTPN23	25930	broad.mit.edu	37	chr3	47448823	47448823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgacactgtgcaagacGcgcttcgcttcactatggat	10	12	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:47448823G>A	uc003crf.1	+	11	985	c.889G>A	c.(889-891)GCG>ACG	p.A297T	PTPN23_uc011baw.1_Missense_Mutation_p.A262T|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.A167T	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	297	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGTGCAAGACGCGCTTCGCTT	0.597													A	47448823	G	A	47448823	3	1	23	1	0	0	0	0	1	0	0	0	12788	1087	38	1	931	1	PTPN23	3	47448823	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	131866	47448823	150573607	287	20881											
PTPN23	25930	broad.mit.edu	37	chr3	47452588	47452588	+	Frame_Shift_Del	DEL	C	C	-													cctggtccggtaccccctcgCcccccagcagcagaaccacc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:47452588delC	uc003crf.1	+	20	3396	c.3300delC	c.(3298-3300)CGCfs	p.R1100fs	PTPN23_uc011baw.1_Frame_Shift_Del_p.R1065fs|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Frame_Shift_Del_p.R970fs|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1100	Pro-rich.|His.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACCCCCTCGCCCCCCAGCAG	0.692													-	47452588	C	-	47452588	7	5	23	1	0	1	0	1	0	0	0	0	12788	726	26	0	3378	0	PTPN23	3	47452588	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	3765	47452588	150569842	288	20882											
DHX30	22907	broad.mit.edu	37	chr3	47888228	47888228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggagggcgtgagccacGtcatcgtggatgaggtgcat	17	9	1	2	rs36045705	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:47888228G>A	uc003cru.2	+	11	2092	c.1666G>A	c.(1666-1668)GTC>ATC	p.V556I	DHX30_uc003crt.2_Missense_Mutation_p.V517I|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	556	Helicase ATP-binding.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.V556I(1)		ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CGTGAGCCACGTCATCGTGGA	0.637													A	47888228	G	A	47888228	3	1	23	1	0	0	0	0	1	0	0	0	4504	1145	40	1	1711	1	DHX30	3	47888228	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	435640	47888228	150134202	289	20883											
DHX30	22907	broad.mit.edu	37	chr3	47890951	47890951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccctgcaggtgaggcaggGcaaggtcacccggcagggga	17	11	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:47890951G>A	uc003cru.2	+	20	3524	c.3098G>A	c.(3097-3099)GGC>GAC	p.G1033D	DHX30_uc003crt.2_Missense_Mutation_p.G994D|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	1033						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GTGAGGCAGGGCAAGGTCACC	0.587													A	47890951	G	A	47890951	3	1	23	1	0	0	0	0	1	0	0	0	4504	1203	42	2	3179	2	DHX30	3	47890951	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2723	47890951	150131479	290	20884											
COL7A1	1294	broad.mit.edu	37	chr3	48605162	48605162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctctcctttgtgtcctGccagcccggggcggcctggg	13	16	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:48605162G>A	uc003ctz.2	-	107	7965	c.7964C>T	c.(7963-7965)GCA>GTA	p.A2655V		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2655	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTTGTGTCCTGCCAGCCCGGG	0.667													A	48605162	G	A	48605162	3	1	23	1	0	0	0	0	1	0	0	0	3704	1319	46	2	918	2	COL7A1	3	48605162	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	714211	48605162	149417268	291	20885											
TMEM89	440955	broad.mit.edu	37	chr3	48658932	48658932	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgagcgccgccgcccctgCagtatcttgcggcagatcat	12	14	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:48658932C>T	uc011bbo.1	-	1	258	c.258G>A	c.(256-258)CTG>CTA	p.L86L		NM_001008269	NP_001008270	A2RUT3	TMM89_HUMAN	transmembrane protein 89 precursor	86	Helical; (Potential).					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCCGCCCCTGCAGTATCTTGC	0.627													T	48658932	C	T	48658932	2	4	23	1	0	0	0	0	0	0	0	1	16210	697	25	2		2	TMEM89	3	48658932	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	53770	48658932	149363498	292	20886											
PRKAR2A	5576	broad.mit.edu	37	chr3	48789046	48789046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggttgcccagatccacgCtggagccaaacatcttcacc	9	15	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:48789046C>T	uc010hki.1	-	11	1428	c.1187G>A	c.(1186-1188)AGC>AAC	p.S396N	PRKAR2A_uc003cux.1_Missense_Mutation_p.S396N|PRKAR2A_uc003cuy.1_Missense_Mutation_p.S374N	NM_004157	NP_004148	P13861	KAP2_HUMAN	cAMP-dependent protein kinase, regulatory	396	cAMP 2.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		CAGATCCACGCTGGAGCCAAA	0.522													T	48789046	C	T	48789046	3	4	23	1	0	0	0	0	1	0	0	0	12505	797	28	2	31	2	PRKAR2A	3	48789046	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	130114	48789046	149233384	293	20887											
P4HTM	54681	broad.mit.edu	37	chr3	49043193	49043194	+	Frame_Shift_Ins	INS	-	-	C													actggggacctgctcagtgcINScccccctgccttacagctac							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:49043192_49043193G>GC	uc003cvh.3	+	6	1588_1589	c.1239_1240G>GC	c.(1237-1242)gtgcccfs	p.V413fs	P4HTM_uc003cvg.3_Intron|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN	Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	350	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	L-ascorbic acid binding|calcium ion binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.L416fs*6(1)|p.L416fs*28(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CCTGCTCAGTGCCCCCCCTGCC	0.554													C	49043194	-	C	49043193	7	5	23	1	0	1	1	0	0	0	0	0	11360	739	26	0	1266	0	P4HTM	3	49043193	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	254147	49043193	148979237	294	20888											
C3orf62	375341	broad.mit.edu	37	chr3	49314258	49314258	+	Frame_Shift_Del	DEL	T	T	-													tcctttctgcatcttcttagTttttcagacatttctcctaa							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:49314258delT	uc003cwn.2	-	1	251	c.48delA	c.(46-48)AAAfs	p.K16fs	C3orf62_uc003cwm.2_5'Flank	NM_198562	NP_940964	Q6ZUJ4	CC062_HUMAN	hypothetical protein LOC375341	16											0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATCTTCTTAGTTTTTCAGACA	0.448													-	49314258	T	-	49314258	7	5	23	1	0	1	0	1	0	0	0	0	2238	1722	60	0	767	0	C3orf62	3	49314258	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	271065	49314258	148708172	295	20889											
BSN	8927	broad.mit.edu	37	chr3	49694496	49694497	+	Frame_Shift_Ins	INS	-	-	C													ccagaatggccagtattggcINSccccccttacacatgcagcc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:49694495_49694496G>GC	uc003cxe.4	+	4	7620_7621	c.7506_7507G>GC	c.(7504-7509)tggcccfs	p.W2502fs		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2502					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCCAGTATTGGCCCCCCCTTAC	0.649													C	49694497	-	C	49694496	7	5	23	1	0	1	1	0	0	0	0	0	1530	739	26	0	7525	0	BSN	3	49694496	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	380238	49694496	148327934	296	20890											
RNF123	63891	broad.mit.edu	37	chr3	49738978	49738980	+	In_Frame_Del	DEL	GGA	GGA	-													atcaagagccccctgcgtgtGgaggaggccggcctgcagga							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:49738977_49738979TGGA>T	uc003cxh.3	+	15	1417_1419	c.1331_1333TGGA>T	c.(1330-1335)gtggag>gTag	p.E446del	RNF123_uc010hky.1_In_Frame_Del_p.E108del|RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	446						cytoplasm	ligase activity|protein binding|zinc ion binding	p.E445Q(2)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCCCTGCGTGTGGAGGAGGCCGG	0.635											OREG0015570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	49738980	GGA	-	49738978	7	5	23	1	0	1	0	1	0	0	0	0	13433	1335	47	0	1390	0	RNF123	3	49738978	In_Frame_Del	DEL	GGA	TCGA-BR-4368-01A-01D-1158-08	44482	49738978	148283452	297	20891											
RBM6	10180	broad.mit.edu	37	chr3	50005145	50005146	+	Frame_Shift_Ins	INS	-	-	G													ggacctggacatgatttcagINSggggggagatttttcgtctt					rs141234052		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:50005144_50005145A>AG	uc003cyc.3	+	2	534_535	c.286_287A>AG	c.(286-288)aggfs	p.R96fs	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	96					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACATGATTTCAGGGGGGGAGAT	0.495													G	50005146	-	G	50005145	7	5	23	1	0	1	1	0	0	0	0	0	13144	1000	35	0	293	0	RBM6	3	50005145	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	266167	50005145	148017285	298	20892											
RBM6	10180	broad.mit.edu	37	chr3	50106123	50106123	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaattgcctctcttctcagCaaaacctggaaatccaccgg	7	13	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:50106123C>T	uc003cyc.2	+	18	3077	c.2944C>T	c.(2944-2946)CAA>TAA	p.Q982*	RBM6_uc003cyd.2_Nonsense_Mutation_p.Q460*|RBM6_uc003cye.2_Nonsense_Mutation_p.Q460*|RBM6_uc011bdi.1_Nonsense_Mutation_p.Q324*|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	982					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CTCTTCTCAGCAAAACCTGGA	0.438													T	50106123	C	T	50106123	4	4	23	1	0	0	0	0	0	1	0	0	13144	724	25	2	3010	2	RBM6	3	50106123	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	100978	50106123	147916307	299	20893											
SEMA3B	7869	broad.mit.edu	37	chr3	50313251	50313251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagtggactttccagcgCgcaggggtgacagcccacac	15	12	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:50313251C>T	uc003cyu.2	+	18	2063	c.1821C>T	c.(1819-1821)CGC>CGT	p.R607R	SEMA3B_uc003cyt.2_Silent_p.R606R|SEMA3B_uc003cyv.2_Silent_p.R494R|SEMA3B_uc003cyw.2_Silent_p.R330R|SEMA3B_uc010hli.2_Silent_p.R499R|SEMA3B_uc003cyx.2_Silent_p.R493R|SEMA3B_uc003cyy.2_Silent_p.R264R|SEMA3B_uc011bdo.1_Silent_p.R264R	NM_004636	NP_004627	Q13214	SEM3B_HUMAN	semaphorin 3B isoform 1 precursor	607	Ig-like C2-type.				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			lung(2)|central_nervous_system(2)|kidney(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CTTTCCAGCGCGCAGGGGTGA	0.692													T	50313251	C	T	50313251	2	4	23	1	0	0	0	0	0	0	0	1	14025	755	27	1		1	SEMA3B	3	50313251	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	207128	50313251	147709179	300	20894											
DOCK3	1795	broad.mit.edu	37	chr3	51395259	51395259	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcacccagctcaaggagcTtatgcaggagcaggtatgtc	12	10	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:51395259T>G	uc011bds.1	+	45	4777	c.4754T>G	c.(4753-4755)CTT>CGT	p.L1585R		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1585	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTCAAGGAGCTTATGCAGGAG	0.502													G	51395259	T	G	51395259	3	3	23	1	0	0	0	0	1	0	0	0	4688	1609	56	5	4932	5	DOCK3	3	51395259	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	1082008	51395259	146627171	301	20895											
GRM2	2912	broad.mit.edu	37	chr3	51752116	51752116	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtggtggactcgacaacGtcatcgctttgaagacccca	12	11	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:51752116G>A	uc010hlv.2	+	6	2846	c.2607G>A	c.(2605-2607)ACG>ACA	p.T869T	GRM2_uc003dbo.3_Silent_p.T251T|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	869	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	ACTCGACAACGTCATCGCTTT	0.597													A	51752116	G	A	51752116	2	1	23	1	0	0	0	0	0	0	0	1	6797	1132	40	1		1	GRM2	3	51752116	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	356857	51752116	146270314	302	20896											
PARP3	10039	broad.mit.edu	37	chr3	51979569	51979569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctctgagcaggagaagaCggtggaggaggtgccacacc	16	9	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:51979569C>T	uc003dby.2	+	7	1291	c.920C>T	c.(919-921)ACG>ATG	p.T307M	PARP3_uc003dbz.2_Missense_Mutation_p.T314M	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	307					DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAGGAGAAGACGGTGGAGGAG	0.607													T	51979569	C	T	51979569	3	4	23	1	0	0	0	0	1	0	0	0	11462	536	19	1	967	1	PARP3	3	51979569	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	227453	51979569	146042861	303	20897											
TLR9	54106	broad.mit.edu	37	chr3	52263948	52263948	+	Frame_Shift_Del	DEL	G	G	-													ccactcacctacagactcaaGggggtcgccctcatgggtgt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:52263947_52263947AG>A	uc003ddd.3	-	6	900	c.749_749CT>T	c.(748-750)cttfs	p.L250fs	TLR9_uc003ddb.3_Frame_Shift_Del_p.L54fs|TLR9_uc003ddc.1_5'Flank	NM_007284	NP_009215	Q9NR96	TLR9_HUMAN	Homo sapiens twinfilin, actin-binding protein, homolog 2 (Drosophila) (TWF2), mRNA.	0					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TACAGACTCAAGGGGGTCGCC	0.667													-	52263948	G	-	52263948	7	5	23	1	0	1	0	1	0	0	0	0	15955	1000	35	0		0	TLR9	3	52263948	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	284379	52263948	145758482	304	20898											
DNAH1	25981	broad.mit.edu	37	chr3	52391956	52391956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactactagagatcttgtcGcagacaaaggaccccacggc	10	12	1	2	rs149752071	by1000genomes	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:52391956G>A	uc011bef.1	+	24	4284	c.4023G>A	c.(4021-4023)TCG>TCA	p.S1341S		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1341	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGATCTTGTCGCAGACAAAGG	0.632													A	52391956	G	A	52391956	2	1	23	1	0	0	0	0	0	0	0	1	4597	1074	38	1		1	DNAH1	3	52391956	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	128008	52391956	145630474	305	20899											
DNAH1	25981	broad.mit.edu	37	chr3	52422920	52422920	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggcgatgtcctggtggcCgctggctttgtggcctacct	14	13	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:52422920C>T	uc011bef.1	+	59	9723	c.9462C>T	c.(9460-9462)GCC>GCT	p.A3154A	DNAH1_uc003ddv.2_Silent_p.A12A	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3219					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCTGGTGGCCGCTGGCTTTG	0.607													T	52422920	C	T	52422920	2	4	23	1	0	0	0	0	0	0	0	1	4597	639	23	1		1	DNAH1	3	52422920	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	30964	52422920	145599510	306	20900											
STAB1	23166	broad.mit.edu	37	chr3	52553354	52553354	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgaacggcatcctgcacttCattgaccgtgtcctgctgcc	10	14	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:52553354C>T	uc003dej.2	+	49	5183	c.5109C>T	c.(5107-5109)TTC>TTT	p.F1703F	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.2_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1703	Extracellular (Potential).|FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCCTGCACTTCATTGACCGTG	0.642													T	52553354	C	T	52553354	2	4	23	1	0	0	0	0	0	0	0	1	15236	825	29	4		4	STAB1	3	52553354	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	130434	52553354	145469076	307	20901											
PRKCD	5580	broad.mit.edu	37	chr3	53220294	53220294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccatggttgagaagcggGtgctgacacttgccgcagag	15	10	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:53220294G>A	uc003dgl.2	+	13	1551	c.1198G>A	c.(1198-1200)GTG>ATG	p.V400M	PRKCD_uc003dgm.2_Missense_Mutation_p.V400M	NM_006254	NP_006245	Q05655	KPCD_HUMAN	protein kinase C, delta	400	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		TGAGAAGCGGGTGCTGACACT	0.592													A	53220294	G	A	53220294	3	1	23	1	0	0	0	0	1	0	0	0	12509	1261	44	4	1240	4	PRKCD	3	53220294	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	666940	53220294	144802136	308	20902											
CACNA1D	776	broad.mit.edu	37	chr3	53531320	53531320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggctgcccaaactatgaGcacctctgcacccccacctg	7	18	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:53531320G>A	uc003dgv.3	+	2	372	c.209G>A	c.(208-210)AGC>AAC	p.S70N	CACNA1D_uc003dgu.3_Missense_Mutation_p.S70N|CACNA1D_uc003dgy.3_Missense_Mutation_p.S70N	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	70	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CAAACTATGAGCACCTCTGCA	0.532													A	53531320	G	A	53531320	3	1	23	1	0	0	0	0	1	0	0	0	2541	971	34	2	215	2	CACNA1D	3	53531320	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	311026	53531320	144491110	309	20903											
CHDH	55349	broad.mit.edu	37	chr3	53856589	53856589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaatagcaccctgctcaCaagcgtctcggcctcggcct	8	17	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:53856589C>T	uc003dgz.2	-	4	1224	c.784G>A	c.(784-786)GTG>ATG	p.V262M		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	choline dehydrogenase precursor	262					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			ovary(1)|central_nervous_system(1)	2		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	ACCCTGCTCACAAGCGTCTCG	0.632													T	53856589	C	T	53856589	3	4	23	1	0	0	0	0	1	0	0	0	3333	478	17	4	1024	4	CHDH	3	53856589	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	325269	53856589	144165841	310	20904											
ACTR8	93973	broad.mit.edu	37	chr3	53910110	53910110	+	Splice_Site	DEL	G	G	-													cctgatggaccacaatccctGgggggggaaaagaaaaggca							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:53910109_53910109TG>T	uc003dhd.3	-	7	880	c.779_splice	c.e7-1	p.G260_splice	ACTR8_uc003dhb.3_Splice_Site_p.G10_splice|ACTR8_uc003dhc.3_Splice_Site_p.G149_splice	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.	260					DNA recombination|DNA repair|cell division|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CCACAATCCCTGGGGGGGGAA	0.517													-	53910110	G	-	53910110	8	5	23	1	0	1	0	1	0	0	1	0	217	1363	47	0		0	ACTR8	3	53910110	Splice_Site	DEL	G	TCGA-BR-4368-01A-01D-1158-08	53521	53910110	144112320	311	20905											
LRTM1	57408	broad.mit.edu	37	chr3	54952605	54952605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggtgcagccatagatggCagctgccaacatcatgagac	11	10	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:54952605C>T	uc003dhl.2	-	3	1053	c.919G>A	c.(919-921)GCC>ACC	p.A307T	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	307	Helical; (Potential).					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CCATAGATGGCAGCTGCCAAC	0.542													T	54952605	C	T	54952605	3	4	23	1	0	0	0	0	1	0	0	0	9044	710	25	2	122	2	LRTM1	3	54952605	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1042495	54952605	143069825	312	20906											
C3orf63	23272	broad.mit.edu	37	chr3	56657240	56657240	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgtctgatgagtgagaAcattaaaatgactaaactga	8	4	1	5			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:56657240A>G	uc003did.3	-	23	4756	c.4655T>C	c.(4654-4656)GTT>GCT	p.V1552A	C3orf63_uc003dib.3_Missense_Mutation_p.V671A|C3orf63_uc003dic.3_Missense_Mutation_p.V1176A|C3orf63_uc003die.3_3'UTR	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	1613										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		ATGAGTGAGAACATTAAAATG	0.343													G	56657240	A	G	56657240	3	3	23	1	0	0	0	0	1	0	0	0	2239	43	2	3	178	3	C3orf63	3	56657240	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	1704635	56657240	141365190	313	20907											
C3orf63	23272	broad.mit.edu	37	chr3	56681079	56681079	+	Frame_Shift_Del	DEL	A	A	-													cctgaaccaaaacctcgcttAaaaaattcacttacatactt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:56681079delA	uc003did.3	-	14	1787	c.1686delT	c.(1684-1686)TTTfs	p.F562fs	C3orf63_uc003dic.3_Frame_Shift_Del_p.F166fs|C3orf63_uc003die.3_Frame_Shift_Del_p.F562fs	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	562										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		AACCTCGCTTAAAAAATTCAC	0.289													-	56681079	A	-	56681079	7	5	23	1	0	1	0	1	0	0	0	0	2239	359	13	0	3430	0	C3orf63	3	56681079	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	23839	56681079	141341351	314	20908											
FLNB	2317	broad.mit.edu	37	chr3	58155348	58155348	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttagccctggctcagccaaCgagacctcatccatcctggt	9	15	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:58155348C>T	uc003djj.2	+	45	7614	c.7449C>T	c.(7447-7449)AAC>AAT	p.N2483N	FLNB_uc010hne.2_Silent_p.N2514N|FLNB_uc003djk.2_Silent_p.N2472N|FLNB_uc010hnf.2_Silent_p.N2459N|FLNB_uc003djl.2_Silent_p.N2303N|FLNB_uc003djm.2_Silent_p.N2290N|uc003djn.2_Intron	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	2483	Hinge 2 (By similarity).|Interaction with INPPL1.|Self-association site, tail (By similarity).				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCTCAGCCAACGAGACCTCAT	0.582													T	58155348	C	T	58155348	2	4	23	1	0	0	0	0	0	0	0	1	5934	535	19	1		1	FLNB	3	58155348	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1474269	58155348	139867082	315	20909											
CADPS	8618	broad.mit.edu	37	chr3	62535675	62535675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggcttgtgtgactgcccCgtggcccgatacatggcctg	13	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:62535675C>T	uc003dll.2	-	11	2229	c.1869G>A	c.(1867-1869)ACG>ACA	p.T623T	CADPS_uc003dlk.1_Silent_p.T127T|CADPS_uc003dlm.2_Silent_p.T623T|CADPS_uc003dln.2_Silent_p.T623T	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	623	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTGACTGCCCCGTGGCCCGAT	0.547													T	62535675	C	T	62535675	2	4	23	1	0	0	0	0	0	0	0	1	2570	639	23	1		1	CADPS	3	62535675	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	4380327	62535675	135486755	316	20910											
ATXN7	6314	broad.mit.edu	37	chr3	63973915	63973915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagaacgtcacaggagccgCaccaaaaccctcacggagtg	10	14	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:63973915C>T	uc003dlw.3	+	9	1829	c.1276C>T	c.(1276-1278)CAC>TAC	p.H426Y	ATXN7_uc003dlv.2_Missense_Mutation_p.H426Y|ATXN7_uc010hnv.2_Missense_Mutation_p.H426Y|ATXN7_uc011bfn.1_Missense_Mutation_p.H281Y	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	426	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		ACAGGAGCCGCACCAAAACCC	0.557													T	63973915	C	T	63973915	3	4	23	1	0	0	0	0	1	0	0	0	1215	710	25	2	1370	2	ATXN7	3	63973915	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1438240	63973915	134048515	317	20911											
IMPG2	50939	broad.mit.edu	37	chr3	100964716	100964716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccagtctgaagcactgcCggggtgacagaatgaagagt	14	8	1	5			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:100964716C>T	uc003duq.1	-	12	1676	c.1473G>A	c.(1471-1473)CCG>CCA	p.P491P	IMPG2_uc011bhe.1_Silent_p.P354P	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	491	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GAAGCACTGCCGGGGTGACAG	0.478													T	100964716	C	T	100964716	2	4	23	1	0	0	0	0	0	0	0	1	7729	639	23	1		1	IMPG2	3	100964716	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	36990801	100964716	97057714	318	20912											
DPPA4	55211	broad.mit.edu	37	chr3	109049450	109049450	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggaggccagcaaagcCtctggggcagaagttgtcac	14	12	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:109049450C>A	uc003dxq.3	-	5	655	c.600G>T	c.(598-600)GAG>GAT	p.E200D	DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.E200D	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	200						nucleus	protein binding			upper_aerodigestive_tract(1)	1						CCAGCAAAGCCTCTGGGGCAG	0.567													A	109049450	C	A	109049450	3	1	23	1	0	0	0	0	1	0	0	0	4736	680	24	5	326	5	DPPA4	3	109049450	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	8084734	109049450	88972980	319	20913											
PVRL3	25945	broad.mit.edu	37	chr3	110852822	110852822	+	Frame_Shift_Del	DEL	A	A	-													gattcttacccagacagtgtAaaaaaagaaaacaaaaatcc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:110852822delA	uc003dxt.1	+	6	1410	c.1410delA	c.(1408-1410)GTAfs	p.V470fs	PVRL3_uc003dxu.1_Intron	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3 precursor	470	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			upper_aerodigestive_tract(2)	2						CAGACAGTGTAAAAAAAGAAA	0.333													-	110852822	A	-	110852822	7	5	23	1	0	1	0	1	0	0	0	0	12841	349	13	0	1432	0	PVRL3	3	110852822	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	1803372	110852822	87169608	320	20914											
PHLDB2	90102	broad.mit.edu	37	chr3	111604188	111604188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtattagctccatttcaggaCgtgatgacctgatggattat	10	7	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:111604188C>T	uc010hqa.2	+	2	1675	c.1264C>T	c.(1264-1266)CGT>TGT	p.R422C	PHLDB2_uc003dyc.2_Missense_Mutation_p.R449C|PHLDB2_uc003dyd.2_Missense_Mutation_p.R422C|PHLDB2_uc003dyg.2_Missense_Mutation_p.R422C|PHLDB2_uc003dyh.2_Missense_Mutation_p.R422C|PHLDB2_uc003dye.3_Missense_Mutation_p.R422C|PHLDB2_uc003dyf.3_Missense_Mutation_p.R422C	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	422						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						CATTTCAGGACGTGATGACCT	0.517													T	111604188	C	T	111604188	3	4	23	1	0	0	0	0	1	0	0	0	11852	536	19	1	1351	1	PHLDB2	3	111604188	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	751366	111604188	86418242	321	20915											
CCDC52	152185	broad.mit.edu	37	chr3	113212908	113212908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaatacctgtgcgcctacGaggaaacagctcttttgctg	10	10	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:113212908G>A	uc003eag.3	-	5	664	c.373C>T	c.(373-375)CGT>TGT	p.R125C	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.R21C	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	125					cell division|mitosis	centriole|spindle	protein binding				0						GTGCGCCTACGAGGAAACAGC	0.373													A	113212908	G	A	113212908	3	1	23	1	0	0	0	0	1	0	0	0	2822	1058	37	1	2250	1	CCDC52	3	113212908	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1608720	113212908	84809522	322	20916											
ZBTB20	26137	broad.mit.edu	37	chr3	114058088	114058088	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctttttgcagatgtagcActcgtaggacttctctcccc	7	13	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:114058088A>G	uc003ebi.2	-	5	2170	c.1990T>C	c.(1990-1992)TGC>CGC	p.C664R	ZBTB20_uc003ebj.2_Missense_Mutation_p.C591R|ZBTB20_uc010hqp.2_Missense_Mutation_p.C591R|ZBTB20_uc003ebk.2_Missense_Mutation_p.C591R|ZBTB20_uc003ebl.2_Missense_Mutation_p.C591R|ZBTB20_uc003ebm.2_Missense_Mutation_p.C591R|ZBTB20_uc003ebn.2_Missense_Mutation_p.C591R	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	664	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CAGATGTAGCACTCGTAGGAC	0.587													G	114058088	A	G	114058088	3	3	23	1	0	0	0	0	1	0	0	0	17526	159	6	3	239	3	ZBTB20	3	114058088	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	845180	114058088	83964342	323	20917											
ZBTB20	26137	broad.mit.edu	37	chr3	114070354	114070354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgttctgtgacacgatgcGcgtgcactcgtcgatgactg	12	12	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:114070354G>A	uc003ebi.2	-	4	751	c.571C>T	c.(571-573)CGC>TGC	p.R191C	ZBTB20_uc003ebj.2_Missense_Mutation_p.R118C|ZBTB20_uc010hqp.2_Missense_Mutation_p.R118C|ZBTB20_uc003ebk.2_Missense_Mutation_p.R118C|ZBTB20_uc003ebl.2_Missense_Mutation_p.R118C|ZBTB20_uc003ebm.2_Missense_Mutation_p.R118C|ZBTB20_uc003ebn.2_Missense_Mutation_p.R118C|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GACACGATGCGCGTGCACTCG	0.642													A	114070354	G	A	114070354	3	1	23	1	0	0	0	0	1	0	0	0	17526	1087	38	1	1662	1	ZBTB20	3	114070354	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	12266	114070354	83952076	324	20918											
EAF2	55840	broad.mit.edu	37	chr3	121573634	121573634	+	Frame_Shift_Del	DEL	A	A	-													tactggagaatgtcggctagAaaaactcagcagcaacatca							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:121573633_121573633GA>G	uc003een.3	+	2	400	c.301_301GA>G	c.(301-303)gaafs	p.E101fs	EAF2_uc003eeo.3_Intron	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	101	Necessary for interaction with ELL.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		ATGTCGGCTAGAAAAACTCAG	0.294													-	121573634	A	-	121573634	7	5	23	1	0	1	0	1	0	0	0	0	4876	246	9	0	312	0	EAF2	3	121573634	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	7503280	121573634	76448796	325	20919											
SLC15A2	6565	broad.mit.edu	37	chr3	121658261	121658261	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaacaaaatgtccattgcGtggcagctaccacaatatgc	8	12	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:121658261G>A	uc003eep.2	+	20	1980	c.1827G>A	c.(1825-1827)GCG>GCA	p.A609A	SLC15A2_uc011bjn.1_Silent_p.A578A	NM_021082	NP_066568	Q16348	S15A2_HUMAN	peptide transporter 2 isoform a	609				A -> R (in Ref. 1; AAB34388).	protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGTCCATTGCGTGGCAGCTAC	0.443													A	121658261	G	A	121658261	2	1	23	1	0	0	0	0	0	0	0	1	14399	1132	40	1		1	SLC15A2	3	121658261	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	84627	121658261	76364169	326	20920											
MYLK	4638	broad.mit.edu	37	chr3	123419170	123419170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcttggcattgcccatggGcttcagggtctcggcaggct	15	11	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:123419170G>A	uc003ego.2	-	18	3427	c.3145C>T	c.(3145-3147)CCC>TCC	p.P1049S	MYLK_uc011bjw.1_Missense_Mutation_p.P1049S|MYLK_uc003egp.2_Missense_Mutation_p.P980S|MYLK_uc003egq.2_Missense_Mutation_p.P1049S|MYLK_uc003egr.2_Missense_Mutation_p.P980S|MYLK_uc003egs.2_Missense_Mutation_p.P873S|MYLK_uc003egt.2_Missense_Mutation_p.P240S	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1049	6 X 12 AA approximate tandem repeats.|2-5.			KPM -> EAH (in Ref. 1 and 7).	aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTGCCCATGGGCTTCAGGGTC	0.547													A	123419170	G	A	123419170	3	1	23	1	0	0	0	0	1	0	0	0	10056	1203	42	2	2667	2	MYLK	3	123419170	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1760909	123419170	74603260	327	20921											
ROPN1B	152015	broad.mit.edu	37	chr3	125701223	125701223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctctacacgtatattgcCgaagtggatggggagatctg	12	7	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:125701223C>T	uc003eih.2	+	5	735	c.507C>T	c.(505-507)GCC>GCT	p.A169A	ROPN1B_uc010hsb.2_Silent_p.A169A|ROPN1B_uc010hsc.2_Silent_p.A77A	NM_001012337	NP_001012337	Q9BZX4	ROP1B_HUMAN	ropporin, rhophilin associated protein 1B	169					acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity				0				GBM - Glioblastoma multiforme(114;0.151)		CGTATATTGCCGAAGTGGATG	0.438													T	125701223	C	T	125701223	2	4	23	1	0	0	0	0	0	0	0	1	13524	639	23	1		1	ROPN1B	3	125701223	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2282053	125701223	72321207	328	20922											
ABTB1	80325	broad.mit.edu	37	chr3	127396115	127396115	+	Frame_Shift_Del	DEL	C	C	-													tgctggccgattgtgccctgCcccccgagctccgagtaagt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:127396115delC	uc003ejt.2	+	8	836	c.748delC	c.(748-750)CCCfs	p.P250fs	ABTB1_uc003ejr.2_Frame_Shift_Del_p.P108fs|ABTB1_uc003ejs.2_Frame_Shift_Del_p.P225fs|ABTB1_uc003eju.2_Frame_Shift_Del_p.P108fs|ABTB1_uc010hsm.2_Frame_Shift_Del_p.P10fs	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	250						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0						TTGTGCCCTGCCCCCCGAGCT	0.637													-	127396115	C	-	127396115	7	5	23	1	0	1	0	1	0	0	0	0	102	739	26	0	778	0	ABTB1	3	127396115	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	1694892	127396115	70626315	329	20923											
ABTB1	80325	broad.mit.edu	37	chr3	127396654	127396654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccgacgtcttcactcacGtgctctactacatgtacagc	6	16	4	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:127396654G>A	uc003ejt.2	+	10	1085	c.997G>A	c.(997-999)GTG>ATG	p.V333M	ABTB1_uc003ejr.2_Missense_Mutation_p.V191M|ABTB1_uc003ejs.2_Missense_Mutation_p.V308M|ABTB1_uc003eju.2_Missense_Mutation_p.V191M|ABTB1_uc010hsm.2_Missense_Mutation_p.V60M	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	333	BTB 2.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0						CTTCACTCACGTGCTCTACTA	0.647													A	127396654	G	A	127396654	3	1	23	1	0	0	0	0	1	0	0	0	102	1145	40	1	1035	1	ABTB1	3	127396654	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	539	127396654	70625776	330	20924											
CCRL1	51554	broad.mit.edu	37	chr3	132319752	132319752	+	Frame_Shift_Del	DEL	C	C	-													ctgccatcttgctgagcataCcccagctggttttttataca							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:132319752delC	uc003eow.2	+	2	594	c.511delC	c.(511-513)CCCfs	p.P171fs	ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Frame_Shift_Del_p.P171fs	NM_016557	NP_057641	Q9NPB9	CCRL1_HUMAN	chemokine (C-C motif) receptor-like 1	171	Helical; Name=4; (Potential).				chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity				0						GCTGAGCATACCCCAGCTGGT	0.448													-	132319752	C	-	132319752	7	5	23	1	0	1	0	1	0	0	0	0	2949	507	18	0	513	0	CCRL1	3	132319752	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	4923098	132319752	65702678	331	20925											
ACAD11	84129	broad.mit.edu	37	chr3	132349315	132349315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcttaaaatatgaaaggGcaagaaagaaattccagtta	7	6	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:132349315G>A	uc003eov.3	-	7	1309	c.929C>T	c.(928-930)GCC>GTC	p.A310V	ACAD11_uc003eoy.2_Missense_Mutation_p.A310V	NM_032169	NP_115545	Q709F0	ACD11_HUMAN	putative acyl-CoA dehydrogenase	310						peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups			ovary(1)	1						ATATGAAAGGGCAAGAAAGAA	0.353													A	132349315	G	A	132349315	3	1	23	1	0	0	0	0	1	0	0	0	109	1203	42	2	1469	2	ACAD11	3	132349315	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	29563	132349315	65673115	332	20926											
UBA5	79876	broad.mit.edu	37	chr3	132387690	132387690	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttgattatgacaaggtggAactagccaatatgaatagac	9	6	0	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:132387690A>T	uc003epa.3	+	4	568	c.326A>T	c.(325-327)GAA>GTA	p.E109V	NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.2_Missense_Mutation_p.E53V|UBA5_uc010htt.2_Missense_Mutation_p.E109V|UBA5_uc003epb.3_Missense_Mutation_p.E53V	NM_024818	NP_079094	Q9GZZ9	UBA5_HUMAN	ubiquitin-activating enzyme 5 isoform 1	109					protein ufmylation	aggresome|cytoplasm|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			kidney(1)	1						GACAAGGTGGAACTAGCCAAT	0.318													T	132387690	A	T	132387690	3	4	23	1	0	0	0	0	1	0	0	0	16827	246	9	5	340	5	UBA5	3	132387690	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	38375	132387690	65634740	333	20927											
TOPBP1	11073	broad.mit.edu	37	chr3	133371424	133371424	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacatattgattcacttacGcaacttgcatttatgttgga	6	7	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:133371424G>A	uc003eps.2	-	8	1104	c.972C>T	c.(970-972)TGC>TGT	p.C324C		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	324					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						ATTCACTTACGCAACTTGCAT	0.328								Other_conserved_DNA_damage_response_genes					A	133371424	G	A	133371424	2	1	23	1	0	0	0	0	0	0	0	1	16366	1079	38	1		1	TOPBP1	3	133371424	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	983734	133371424	64651006	334	20928											
DZIP1L	199221	broad.mit.edu	37	chr3	137811279	137811279	+	Frame_Shift_Del	DEL	T	T	-													ttaaattcatcccaaaataaTttttttagtttatctatttc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:137811278_137811278AT>A	uc003erq.3	-	4	1180	c.817_817AT>T	c.(817-819)ttafs	p.L273fs	DZIP1L_uc003err.1_Frame_Shift_Del_p.L273fs	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	273						intracellular	zinc ion binding	p.K272Q(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TCCCAAAATAATTTTTTTAGT	0.338													-	137811279	T	-	137811279	7	5	23	1	0	1	0	1	0	0	0	0	4864	1490	52	0	1544	0	DZIP1L	3	137811279	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	4439855	137811279	60211151	335	20929											
DBR1	51163	broad.mit.edu	37	chr3	137880739	137880740	+	In_Frame_Ins	INS	-	-	CAT													agtaaatcatcttaagctgcINSatcgtcatcatcatcatcca							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:137880738_137880739G>GCAT	uc003erv.3	-	7	1781_1782	c.1627_1628C>ATGC	c.(1627-1629)gca>ATGCa	p.A543M	DBR1_uc003eru.3_In_Frame_Ins_p.A492M|DBR1_uc003ert.3_In_Frame_Ins_p.A311M	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	543						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ATCTTAAGCTGCATCGTCATCA	0.386													CAT	137880740	-	CAT	137880739	7	5	23	1	0	1	1	0	0	0	0	0	4257	710	25	0	11	0	DBR1	3	137880739	In_Frame_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	69460	137880739	60141691	336	20930											
DBR1	51163	broad.mit.edu	37	chr3	137880841	137880841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcactcagcctcttcaatgGcaccttggttaagtcctctc	6	14	5	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:137880841G>A	uc003erv.2	-	8	1661	c.1525C>T	c.(1525-1527)CCA>TCA	p.P509S	DBR1_uc003eru.2_Missense_Mutation_p.P458S|DBR1_uc003ert.2_Missense_Mutation_p.P277S	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	509						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						CTCTTCAATGGCACCTTGGTT	0.448													A	137880841	G	A	137880841	3	1	23	1	0	0	0	0	1	0	0	0	4257	1203	42	2	113	2	DBR1	3	137880841	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	102	137880841	60141589	337	20931											
CHST2	9435	broad.mit.edu	37	chr3	142840892	142840892	+	Frame_Shift_Del	DEL	C	C	-													cgctgcagacagccctgcagCcccctgactggctgcagggc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:142840891_142840891GC>G	uc003evm.3	+	1	2172	c.1233_1233GC>G	c.(1231-1233)cagfs	p.Q411fs	CHST2_uc021xex.1_Frame_Shift_Del_p.Q411fs	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	411					N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CAGCCCTGCAGCCCCCTGACT	0.622													-	142840892	C	-	142840892	7	5	23	1	0	1	0	1	0	0	0	0	3404	739	26	0	1236	0	CHST2	3	142840892	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	4960051	142840892	55181538	338	20932											
MED12L	116931	broad.mit.edu	37	chr3	150883689	150883689	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttggatcgtcactgttttGaccgaactgattccagcaat	8	9	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:150883689G>A	uc003eyp.2	+	10	1452	c.1414G>A	c.(1414-1416)GAC>AAC	p.D472N	MED12L_uc011bnz.1_Missense_Mutation_p.D332N|MED12L_uc003eyn.2_Missense_Mutation_p.D472N|MED12L_uc003eyo.2_Missense_Mutation_p.D472N	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	472					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCACTGTTTTGACCGAACTGA	0.363													A	150883689	G	A	150883689	3	1	23	1	0	0	0	0	1	0	0	0	9429	1290	45	4	1452	4	MED12L	3	150883689	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	8042797	150883689	47138741	339	20933											
IGSF10	285313	broad.mit.edu	37	chr3	151161469	151161469	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgcttccggaatgaactgTgatctctttggtacgtctct	10	9	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:151161469T>C	uc011bod.1	-	5	5266	c.5266A>G	c.(5266-5268)ACA>GCA	p.T1756A	IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1756	Ig-like C2-type 4.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAATGAACTGTGATCTCTTTG	0.498													C	151161469	T	C	151161469	3	2	23	1	0	0	0	0	1	0	0	0	7597	1696	59	3	2661	3	IGSF10	3	151161469	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	277780	151161469	46860961	340	20934											
PTX3	5806	broad.mit.edu	37	chr3	157154774	157154774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctggtctgcagtgttggccGagaactcggatgattatgat	13	7	2	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:157154774G>A	uc003fbl.3	+	1	195	c.52G>A	c.(52-54)GAG>AAG	p.E18K	VEPH1_uc003fbj.1_Intron|VEPH1_uc003fbk.1_Intron|VEPH1_uc010hvu.1_Intron	NM_002852	NP_002843	P26022	PTX3_HUMAN	pentraxin 3 precursor	18					inflammatory response	extracellular region				central_nervous_system(1)	1			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGTGTTGGCCGAGAACTCGGA	0.473													A	157154774	G	A	157154774	3	1	23	1	0	0	0	0	1	0	0	0	12822	1059	37	1	54	1	PTX3	3	157154774	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	5993305	157154774	40867656	341	20935											
SMC4	10051	broad.mit.edu	37	chr3	160143940	160143941	+	Frame_Shift_Ins	INS	-	-	A													acttgctacagcccctgacaINSaaaaaaagcagaaattgcta							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:160143939_160143940C>CA	uc003fdh.3	+	16	2669_2670	c.2556_2557C>CA	c.(2554-2559)gacaaafs	p.D852fs	IFT80_uc003fda.3_Intron|SMC4_uc003fdi.3_Frame_Shift_Ins_p.D827fs|SMC4_uc003fdj.3_Frame_Shift_Ins_p.D852fs|SMC4_uc010hwd.3_Frame_Shift_Ins_p.D852fs|SMC4_uc003fdl.3_Frame_Shift_Ins_p.D555fs	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	852					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAGCCCCTGACAAAAAAAAGCA	0.322													A	160143941	-	A	160143940	7	5	23	1	0	1	1	0	0	0	0	0	14785	131	5	0	2619	0	SMC4	3	160143940	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	2989166	160143940	37878490	342	20936											
TBL1XR1	79718	broad.mit.edu	37	chr3	176756141	176756141	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taataggtctgtcttgtcctAatttacagacatgaatgcac	7	8	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:176756141A>G	uc003fiw.3	-	11	1267	c.1007T>C	c.(1006-1008)TTA>TCA	p.L336S	TBL1XR1_uc003fix.3_Missense_Mutation_p.L336S|TBL1XR1_uc011bpz.1_Missense_Mutation_p.L8S	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	336	WD 4.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GTCTTGTCCTAATTTACAGAC	0.373													G	176756141	A	G	176756141	3	3	23	1	0	0	0	0	1	0	0	0	15637	372	13	3	561	3	TBL1XR1	3	176756141	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	16612201	176756141	21266289	343	20937											
B3GNT5	84002	broad.mit.edu	37	chr3	182987655	182987655	+	Frame_Shift_Del	DEL	T	T	-													attcagttatttgctacttgTtttttagcgagcctcatgtt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:182987654_182987654GT>G	uc003flm.3	+	1	591	c.68_68GT>G	c.(67-69)tgtfs	p.C23fs	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003flk.3_Frame_Shift_Del_p.C23fs|B3GNT5_uc003fll.3_Frame_Shift_Del_p.C23fs|B3GNT5_uc021xic.1_Frame_Shift_Del_p.C23fs	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA.	23					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTTGCTACTTGTTTTTTAGCG	0.348													-	182987655	T	-	182987655	7	5	23	1	0	1	0	1	0	0	0	0	1260	1731	60	0	71	0	B3GNT5	3	182987655	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	6231514	182987655	15034775	344	20938											
ECE2	9718	broad.mit.edu	37	chr3	184005700	184005700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctttggggtccctcttcGtgaaggccacgtttgaccgg	13	11	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:184005700G>A	uc003fni.3	+	11	1731	c.1693G>A	c.(1693-1695)GTG>ATG	p.V565M	ECE2_uc011brh.1_Missense_Mutation_p.V418M|ECE2_uc003fnl.3_Missense_Mutation_p.V493M|ECE2_uc003fnm.3_Missense_Mutation_p.V447M|ECE2_uc003fnk.3_Missense_Mutation_p.V418M|ECE2_uc011bri.1_Missense_Mutation_p.V480M|ECE2_uc010hxv.2_Missense_Mutation_p.V209M	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	565	Lumenal (Potential).|Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTCCCTCTTCGTGAAGGCCAC	0.493													A	184005700	G	A	184005700	3	1	23	1	0	0	0	0	1	0	0	0	4890	1145	40	1	2299	1	ECE2	3	184005700	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1018045	184005700	14016730	345	20939											
TRA2B	6434	broad.mit.edu	37	chr3	185641637	185641637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggcaaatcctcttgaacGcctagactgctggtcatata	8	10	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:185641637G>A	uc003fpv.2	-	4	745	c.469C>T	c.(469-471)CGT>TGT	p.R157C	TRA2B_uc003fpt.2_RNA|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_Missense_Mutation_p.R57C|TRA2B_uc003fpw.2_Missense_Mutation_p.R157C	NM_004593	NP_004584	P62995	TRA2B_HUMAN	splicing factor, arginine/serine-rich 10	157	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)	2						CCTCTTGAACGCCTAGACTGC	0.398													A	185641637	G	A	185641637	3	1	23	1	0	0	0	0	1	0	0	0	16431	1087	38	1	421	1	TRA2B	3	185641637	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1635937	185641637	12380793	346	20940											
KNG1	3827	broad.mit.edu	37	chr3	186456933	186456933	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgacttcgtggccagggaaAccacatgttccaaggaaagt	11	9	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:186456933A>G	uc011bsa.1	+	8	1188	c.976A>G	c.(976-978)ACC>GCC	p.T326A	KNG1_uc003fqr.2_Missense_Mutation_p.T326A	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	kininogen 1 isoform 1	326	Cystatin 3.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			skin(1)	1	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GGCCAGGGAAACCACATGTTC	0.378													G	186456933	A	G	186456933	3	3	23	1	0	0	0	0	1	0	0	0	8427	43	2	3	1006	3	KNG1	3	186456933	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	815296	186456933	11565497	347	20941											
IL1RAP	3556	broad.mit.edu	37	chr3	190366179	190366179	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagcagacgcctcctggtTgttctaagccccaactacgt	8	13	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:190366179T>C	uc003fsm.1	+	12	1604	c.1398T>C	c.(1396-1398)GTT>GTC	p.V466V	IL1RAP_uc010hzg.1_Silent_p.V466V|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Silent_p.V466V|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	466	Cytoplasmic (Potential).|TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GCCTCCTGGTTGTTCTAAGCC	0.507													C	190366179	T	C	190366179	2	2	23	1	0	0	0	0	0	0	0	1	7660	1799	63	3		3	IL1RAP	3	190366179	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	3909246	190366179	7656251	348	20942											
CPN2	1370	broad.mit.edu	37	chr3	194062974	194062974	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcctggagctggttccccTgcaggtggagggactccagg	18	11	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:194062974T>C	uc003fts.2	-	2	548	c.458A>G	c.(457-459)CAG>CGG	p.Q153R		NM_001080513	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	153	LRR 3.				protein stabilization	extracellular region	enzyme regulator activity			ovary(5)	5	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CTGGTTCCCCTGCAGGTGGAG	0.642													C	194062974	T	C	194062974	3	2	23	1	0	0	0	0	1	0	0	0	3810	1580	55	3	1183	3	CPN2	3	194062974	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	3696795	194062974	3959456	349	20943											
FAM43A	131583	broad.mit.edu	37	chr3	194408798	194408798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcccgccaggccgacggcGccagtgcagacgagccccac	13	19	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:194408798G>A	uc003fuj.2	+	1	2177	c.1243G>A	c.(1243-1245)GCC>ACC	p.A415T		NM_153690	NP_710157	Q8N2R8	FA43A_HUMAN	hypothetical protein LOC131583	415										central_nervous_system(1)	1	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		GGCCGACGGCGCCAGTGCAGA	0.741													A	194408798	G	A	194408798	3	1	23	1	0	0	0	0	1	0	0	0	5562	1087	38	1	1245	1	FAM43A	3	194408798	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	345824	194408798	3613632	350	20944											
LRRC33	375387	broad.mit.edu	37	chr3	196387199	196387199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcgggctcacgcggctgCgggtcctcaacgtcagctac	12	15	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:196387199C>T	uc003fwv.2	+	3	789	c.685C>T	c.(685-687)CGG>TGG	p.R229W		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	229	Extracellular (Potential).|LRR 8.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CACGCGGCTGCGGGTCCTCAA	0.647													T	196387199	C	T	196387199	3	4	23	1	0	0	0	0	1	0	0	0	8988	759	27	1	691	1	LRRC33	3	196387199	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1978401	196387199	1635231	351	20945											
PAK2	5062	broad.mit.edu	37	chr3	196537509	196537509	+	Frame_Shift_Del	DEL	A	A	-													gaaaaaatatacaagatatgAaaaaattggacaagggtaag							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:196537508_196537508GA>G	uc003fwy.4	+	7	1079	c.757_757GA>G	c.(757-759)gaafs	p.E253fs		NM_002577	NP_002568	Q13177	PAK2_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 (PAK2), mRNA.	253	Protein kinase.				T cell costimulation|T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TACAAGATATGAAAAAATTGG	0.333													-	196537509	A	-	196537509	7	5	23	1	0	1	0	1	0	0	0	0	11401	246	9	0	784	0	PAK2	3	196537509	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	150310	196537509	1484921	352	20946											
PAK2	5062	broad.mit.edu	37	chr3	196539089	196539089	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgtgttttctccctctaGggcttctggtacagttttca	9	9	4	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:196539089G>A	uc003fwy.3	+	9	1096	c.774_splice	c.e9-1	p.G258_splice		NM_002577	NP_002568	Q13177	PAK2_HUMAN	p21-activated kinase 2						axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			ovary(1)|lung(1)	2	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TCTCCCTCTAGGGCTTCTGGT	0.378													A	196539089	G	A	196539089	5	1	23	1	0	0	0	0	0	0	1	0	11401	1014	35	4	803	4	PAK2	3	196539089	Splice_Site	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1580	196539089	1483341	353	20947											
KIAA0226	9711	broad.mit.edu	37	chr3	197444966	197444966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataccaaaccctccaccgtcGtcttcaaattacccagcaac	3	17	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:197444966G>A	uc003fyc.2	-	2	284	c.101C>T	c.(100-102)ACG>ATG	p.T34M	KIAA0226_uc003fyd.3_Translation_Start_Site|KIAA0226_uc003fyf.2_Intron|KIAA0226_uc003fyg.2_Missense_Mutation_p.T27M	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	34					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTCCACCGTCGTCTTCAAATT	0.502													A	197444966	G	A	197444966	3	1	23	1	0	0	0	0	1	0	0	0	8162	1145	40	1	2942	1	KIAA0226	3	197444966	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	905877	197444966	577464	354	20948											
FAM193A	8603	broad.mit.edu	37	chr4	2695386	2695386	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccgaggaatagccccacGggcttggcccccctcccagc	11	20	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:2695386G>A	uc010icl.2	+	14	2355	c.2004G>A	c.(2002-2004)ACG>ACA	p.T668T	FAM193A_uc010ick.2_Silent_p.T868T|FAM193A_uc003gfd.2_Silent_p.T668T|FAM193A_uc011bvm.1_Silent_p.T690T|FAM193A_uc011bvn.1_Silent_p.T668T|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Silent_p.T522T	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	668										ovary(3)	3						ATAGCCCCACGGGCTTGGCCC	0.627													A	2695386	G	A	2695386	2	1	23	1	0	0	0	0	0	0	0	1	5524	1103	39	1		1	FAM193A	4	2695386	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08		2695386	188458890	355	20949											
TMEM128	85013	broad.mit.edu	37	chr4	4248030	4248030	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaatggatattaagtctTggaagaggtttctccttttt	9	6	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:4248030T>C	uc003ghr.1	-	2	168	c.138A>G	c.(136-138)CCA>CCG	p.P46P	TMEM128_uc003ghq.1_Silent_p.P22P|TMEM128_uc003ghs.2_Silent_p.P46P|TMEM128_uc011bvv.1_Silent_p.P46P|TMEM128_uc011bvw.1_Silent_p.P46P	NM_032927	NP_116316	Q5BJH2	TM128_HUMAN	transmembrane protein 128	46						integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		TATTAAGTCTTGGAAGAGGTT	0.358													C	4248030	T	C	4248030	2	2	23	1	0	0	0	0	0	0	0	1	16038	1799	63	3		3	TMEM128	4	4248030	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	1552644	4248030	186906246	356	20950											
LYAR	55646	broad.mit.edu	37	chr4	4270270	4270271	+	Frame_Shift_Ins	INS	-	-	T													ccatacctttttccttagctINSttttgatggttatttcattg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:4270269_4270270C>CT	uc011bvy.2	-	8	1135_1136	c.992_993G>AG	c.(991-993)aagfs	p.K331fs	LYAR_uc011bvx.2_Frame_Shift_Ins_p.K214fs|LYAR_uc003ght.3_Frame_Shift_Ins_p.K331fs	NM_001145725	NP_060286	Q9NX58	LYAR_HUMAN	Homo sapiens Ly1 antibody reactive homolog (mouse) (LYAR), transcript variant 2, mRNA.	331	Lys-rich.					nucleolus	metal ion binding|protein binding			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTTTCCTTAGCTTTTTGATGGT	0.327													T	4270271	-	T	4270270	7	5	23	1	0	1	1	0	0	0	0	0	9103	1609	56	0	155	0	LYAR	4	4270270	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	22240	4270270	186884006	357	20951											
MAN2B2	23324	broad.mit.edu	37	chr4	6588761	6588761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaaacatttgggatccggCcacagttctcctggcacgtt	10	11	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:6588761C>T	uc003gjf.1	+	4	466	c.430C>T	c.(430-432)CCA>TCA	p.P144S	MAN2B2_uc003gje.1_Missense_Mutation_p.P144S|MAN2B2_uc011bwf.1_Missense_Mutation_p.P144S	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	144					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						TGGGATCCGGCCACAGTTCTC	0.632													T	6588761	C	T	6588761	3	4	23	1	0	0	0	0	1	0	0	0	9217	739	26	2	444	2	MAN2B2	4	6588761	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2318491	6588761	184565515	358	20952											
C4orf23	152992	broad.mit.edu	37	chr4	8477523	8477523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgggagagttcacatccGcgactggcgagaggagacac	15	9	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:8477523G>A	uc003glg.1	+	11	1570	c.1382G>A	c.(1381-1383)CGC>CAC	p.R461H	C4orf23_uc003glh.1_Missense_Mutation_p.R298H|C4orf23_uc003gli.1_RNA	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	hypothetical protein LOC152992 isoform 2	690					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding				0						GTTCACATCCGCGACTGGCGA	0.498													A	8477523	G	A	8477523	3	1	23	1	0	0	0	0	1	0	0	0	2256	1087	38	1	2111	1	C4orf23	4	8477523	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1888762	8477523	182676753	359	20953											
CPZ	8532	broad.mit.edu	37	chr4	8603054	8603054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtgctggccccccggtGtgagggcggctgggtgcgca	19	12	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:8603054G>A	uc003glm.2	+	3	452	c.326G>A	c.(325-327)TGT>TAT	p.C109Y	CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Translation_Start_Site|CPZ_uc003glo.2_Missense_Mutation_p.C98Y|CPZ_uc003glp.2_RNA	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z isoform 1	109	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3						GCCCCCCGGTGTGAGGGCGGC	0.687													A	8603054	G	A	8603054	3	1	23	1	0	0	0	0	1	0	0	0	3839	1377	48	4	336	4	CPZ	4	8603054	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	125531	8603054	182551222	360	20954											
CPEB2	132864	broad.mit.edu	37	chr4	15060834	15060834	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaatacgtccttggaatttAagtgatagtgattttgtaat	8	4	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:15060834A>G	uc003gni.1	+	9	1356	c.1269A>G	c.(1267-1269)TTA>TTG	p.L423L	CPEB2_uc003gnj.1_Silent_p.L393L|CPEB2_uc003gnk.1_Silent_p.L431L|CPEB2_uc003gnl.1_Silent_p.L404L|CPEB2_uc003gnm.1_Silent_p.L401L|CPEB2_uc003gnn.1_Silent_p.L396L	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding	423	RRM 1.				regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1						CTTGGAATTTAAGTGATAGTG	0.373													G	15060834	A	G	15060834	2	3	23	1	0	0	0	0	0	0	0	1	3801	359	13	3		3	CPEB2	4	15060834	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	6457780	15060834	176093442	361	20955											
LDB2	9079	broad.mit.edu	37	chr4	16504380	16504380	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattgttgaagtcctcctcGtcgtccatgccgttggccgc	11	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:16504380G>A	uc003goz.2	-	8	1324	c.1008C>T	c.(1006-1008)GAC>GAT	p.D336D	LDB2_uc003gpa.2_3'UTR|LDB2_uc003gpb.2_Silent_p.D334D|LDB2_uc011bxh.1_Silent_p.D308D|LDB2_uc010iee.2_3'UTR|LDB2_uc003goy.2_Silent_p.D211D|LDB2_uc011bxi.1_3'UTR	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	336	LIM-binding domain (LID) (By similarity).						LIM domain binding|transcription cofactor activity				0						AGTCCTCCTCGTCGTCCATGC	0.542													A	16504380	G	A	16504380	2	1	23	1	0	0	0	0	0	0	0	1	8696	1136	40	1		1	LDB2	4	16504380	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1443546	16504380	174649896	362	20956											
SLIT2	9353	broad.mit.edu	37	chr4	20620584	20620584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggctcctcctttgtggaCgaggttgagaaagtggtgaa	15	7	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:20620584C>T	uc003gpr.1	+	37	4746	c.4542C>T	c.(4540-4542)GAC>GAT	p.D1514D	SLIT2_uc003gps.1_Silent_p.D1506D	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1514	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						CCTTTGTGGACGAGGTTGAGA	0.547													T	20620584	C	T	20620584	2	4	23	1	0	0	0	0	0	0	0	1	14740	535	19	1		1	SLIT2	4	20620584	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	4116204	20620584	170533692	363	20957											
LGI2	55203	broad.mit.edu	37	chr4	25005545	25005545	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacctgggagcggctggacAggatgagatgcgattttcca	16	8	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:25005545A>G	uc003grf.2	-	8	1265	c.1166T>C	c.(1165-1167)CTG>CCG	p.L389P		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	389	EAR 4.					extracellular region					0		Breast(46;0.173)				GCGGCTGGACAGGATGAGATG	0.507													G	25005545	A	G	25005545	3	3	23	1	0	0	0	0	1	0	0	0	8752	188	7	3	475	3	LGI2	4	25005545	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	4384961	25005545	166148731	364	20958											
RFC1	5981	broad.mit.edu	37	chr4	39310257	39310257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgaggttgtaaaatcaccGtgttttttatcttcggaaga	10	5	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:39310257G>A	uc003gty.1	-	13	2018	c.1884C>T	c.(1882-1884)CAC>CAT	p.H628H	RFC1_uc003gtx.1_Silent_p.H628H	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	628					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4						TAAAATCACCGTGTTTTTTAT	0.388													A	39310257	G	A	39310257	2	1	23	1	0	0	0	0	0	0	0	1	13244	1159	40	1		1	RFC1	4	39310257	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	14304712	39310257	151844019	365	20959											
N4BP2	55728	broad.mit.edu	37	chr4	40115053	40115053	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgtctttgttgtatgtagtCtcagaaacacaaatataaag	7	5	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:40115053C>A	uc003guy.3	+	7	1927	c.1589C>A	c.(1588-1590)TCT>TAT	p.S530Y	N4BP2_uc010ifq.2_Missense_Mutation_p.S450Y|N4BP2_uc010ifr.2_Missense_Mutation_p.S450Y	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	530						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						TGTATGTAGTCTCAGAAACAC	0.308													A	40115053	C	A	40115053	3	1	23	1	0	0	0	0	1	0	0	0	10110	927	32	5	1607	5	N4BP2	4	40115053	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	804796	40115053	151039223	366	20960											
CHRNA9	55584	broad.mit.edu	37	chr4	40337892	40337892	+	Frame_Shift_Del	DEL	T	T	-													tcagaagttgtttaatgaccTttttgaagattattctaatg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:40337891_40337891CT>C	uc003gva.1	+	1	128	c.112_112CT>C	c.(112-114)cttfs	p.L38fs		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	38					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GTTTAATGACCTTTTTGAAGA	0.398													-	40337892	T	-	40337892	7	5	23	1	0	1	0	1	0	0	0	0	3389	1609	56	0	119	0	CHRNA9	4	40337892	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	222839	40337892	150816384	367	20961											
PHOX2B	8929	broad.mit.edu	37	chr4	41748245	41748245	+	Frame_Shift_Del	DEL	T	T	-													cgtccctggaagagtcagacTttttgcccgaggagccgttc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:41748244_41748244CT>C	uc003gwf.4	-	2	885	c.525_525AG>G	c.(523-525)aagfs	p.K175fs		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.	175					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						AAGAGTCAGACTTTTTGCCCG	0.672			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				-	41748245	T	-	41748245	7	5	23	1	0	1	0	1	0	0	0	0	11859	1609	56	0	424	0	PHOX2B	4	41748245	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	1410353	41748245	149406031	368	20962											
SHISA3	152573	broad.mit.edu	37	chr4	42403231	42403231	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccagggcaccctcccgGcagtccagcacagccacgag	11	19	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:42403231G>A	uc003gwp.2	+	2	698	c.480G>A	c.(478-480)CGG>CGA	p.R160R		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	shisa homolog 3 precursor	160	Cytoplasmic (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				ovary(1)|skin(1)	2						CACCCTCCCGGCAGTCCAGCA	0.677													A	42403231	G	A	42403231	2	1	23	1	0	0	0	0	0	0	0	1	14281	1190	42	2		2	SHISA3	4	42403231	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	654986	42403231	148751045	369	20963											
ATP10D	57205	broad.mit.edu	37	chr4	47559941	47559942	+	Frame_Shift_Del	DEL	AG	AG	-													tcagcttgctgcacagaaacAgagaaacaacacggtgatgc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:47559941_47559942delAG	uc003gxk.1	+	12	2249_2250	c.2085_2086delAG	c.(2083-2088)ACAGAGfs	p.T695fs	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	695_696	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						GCACAGAAACAGAGAAACAACA	0.559													-	47559942	AG	-	47559941	7	5	23	1	0	1	0	1	0	0	0	0	1118	175	7	0	2127	0	ATP10D	4	47559941	Frame_Shift_Del	DEL	AG	TCGA-BR-4368-01A-01D-1158-08	5156710	47559941	143594335	370	20964											
SLC10A4	201780	broad.mit.edu	37	chr4	48490497	48490497	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccttttcataatgaccggCactatgttaggacctgaact	8	10	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:48490497C>T	uc003gyc.2	+	3	1074	c.855C>T	c.(853-855)GGC>GGT	p.G285G	ZAR1_uc003gyd.2_5'Flank	NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	285	Helical; (Potential).					integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)	1						TAATGACCGGCACTATGTTAG	0.443													T	48490497	C	T	48490497	2	4	23	1	0	0	0	0	0	0	0	1	14376	697	25	2		2	SLC10A4	4	48490497	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	930556	48490497	142663779	371	20965											
FRYL	285527	broad.mit.edu	37	chr4	48544141	48544141	+	Splice_Site	DEL	G	G	-													aagctcaatcacaaatccctGgggggaaaaaggcagatttt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:48544140_48544140TG>T	uc003gyh.1	-	45	6198	c.5593_splice	c.e45-1	p.G1865_splice	FRYL_uc003gyg.1_Splice_Site_p.G561_splice|FRYL_uc003gyi.1_Splice_Site_p.G753_splice|FRYL_uc003gyj.1_Splice_Site_p.G160_splice	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1865					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CACAAATCCCTGGGGGGAAAA	0.363													-	48544141	G	-	48544141	8	5	23	1	0	1	0	1	0	0	1	0	6064	1363	47	0		0	FRYL	4	48544141	Splice_Site	DEL	G	TCGA-BR-4368-01A-01D-1158-08	53644	48544141	142610135	372	20966											
SGCB	6443	broad.mit.edu	37	chr4	52896001	52896001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagccatttggtccaatgCgaatcacggcccaaataaca	7	13	1	0	rs104893869		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:52896001C>T	uc003gzj.2	-	3	332	c.272G>A	c.(271-273)CGC>CAC	p.R91H	SGCB_uc011bzp.1_Missense_Mutation_p.R21H	NM_000232	NP_000223	Q16585	SGCB_HUMAN	sarcoglycan, beta	91	Extracellular (Potential).		R -> C (in LGMD2E).|R -> L (in LGMD2E).		cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma					0			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TGGTCCAATGCGAATCACGGC	0.388													T	52896001	C	T	52896001	3	4	23	1	0	0	0	0	1	0	0	0	14200	768	27	1	700	1	SGCB	4	52896001	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	4351860	52896001	138258275	373	20967											
TMEM165	55858	broad.mit.edu	37	chr4	56283253	56283253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagttttgtttggctatGccaccacagtcatccccagg	8	13	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:56283253G>A	uc003hax.2	+	3	715	c.448G>A	c.(448-450)GCC>ACC	p.A150T	TMEM165_uc011bzy.1_Missense_Mutation_p.A87T	NM_018475	NP_060945	Q9HC07	TM165_HUMAN	transmembrane protein 165	150						integral to membrane					0	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			GTTTGGCTATGCCACCACAGT	0.383													A	56283253	G	A	56283253	3	1	23	1	0	0	0	0	1	0	0	0	16077	1319	46	2	458	2	TMEM165	4	56283253	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3387252	56283253	134871023	374	20968											
REST	5978	broad.mit.edu	37	chr4	57777446	57777446	+	Frame_Shift_Del	DEL	C	C	-													gagggagatttctccaagggCcccattcgctgtgaccgctg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:57777445_57777445GC>G	uc003hch.3	+	1	988	c.641_641GC>G	c.(640-642)ggcfs	p.G214fs	REST_uc003hci.3_Frame_Shift_Del_p.G214fs|REST_uc003hcj.1_Frame_Shift_Del_p.G214fs|REST_uc010ihf.3_5'UTR	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	214					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TTCTCCAAGGGCCCCATTCGC	0.498													-	57777446	C	-	57777446	7	5	23	1	0	1	0	1	0	0	0	0	13234	726	26	0	644	0	REST	4	57777446	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	1494193	57777446	133376830	375	20969											
POLR2B	5431	broad.mit.edu	37	chr4	57860640	57860640	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgggaaagagatggtgctcCttcaccaatgatgcccaatg	11	9	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:57860640C>A	uc003hcl.1	+	4	357	c.314C>A	c.(313-315)CCT>CAT	p.P105H	POLR2B_uc011cae.1_Missense_Mutation_p.P98H|POLR2B_uc011caf.1_Missense_Mutation_p.P30H	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	105					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)					GATGGTGCTCCTTCACCAATG	0.353													A	57860640	C	A	57860640	3	1	23	1	0	0	0	0	1	0	0	0	12215	681	24	5	328	5	POLR2B	4	57860640	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	83194	57860640	133293636	376	20970											
POLR2B	5431	broad.mit.edu	37	chr4	57861549	57861549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccaccagtactatatggGttagcatgctggcaagagga	12	9	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:57861549G>A	uc003hcl.1	+	6	752	c.709G>A	c.(709-711)GTT>ATT	p.V237I	POLR2B_uc011cae.1_Missense_Mutation_p.V230I|POLR2B_uc011caf.1_Missense_Mutation_p.V162I	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	237					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)					TACTATATGGGTTAGCATGCT	0.403													A	57861549	G	A	57861549	3	1	23	1	0	0	0	0	1	0	0	0	12215	1261	44	4	731	4	POLR2B	4	57861549	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	909	57861549	133292727	377	20971											
IGFBP7	3490	broad.mit.edu	37	chr4	57907023	57907023	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggacaggtgtcgggattccGatgacctcacagctcaagta	12	10	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:57907023G>A	uc003hcn.2	-	2	574	c.552C>T	c.(550-552)ATC>ATT	p.I184I	IGFBP7_uc011cag.1_Silent_p.I184I	NM_001553	NP_001544	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	184	Ig-like C2-type.				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			lung(2)|central_nervous_system(1)	3	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCGGGATTCCGATGACCTCAC	0.537													A	57907023	G	A	57907023	2	1	23	1	0	0	0	0	0	0	0	1	7584	1048	37	1		1	IGFBP7	4	57907023	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	45474	57907023	133247253	378	20972											
LPHN3	23284	broad.mit.edu	37	chr4	62801758	62801758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taccttaaagcaaaatggccGaaatggtaggttagagttta	10	5	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:62801758G>A	uc010ihh.2	+	12	2383	c.2210G>A	c.(2209-2211)CGA>CAA	p.R737Q	LPHN3_uc003hcq.3_Missense_Mutation_p.R737Q|LPHN3_uc003hct.2_Missense_Mutation_p.R130Q	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	724	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						CAAAATGGCCGAAATGGTAGG	0.398													A	62801758	G	A	62801758	3	1	23	1	0	0	0	0	1	0	0	0	8917	1058	37	1	2256	1	LPHN3	4	62801758	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	4894735	62801758	128352518	379	20973											
UGT2A3	79799	broad.mit.edu	37	chr4	69795767	69795767	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atctaggggctttacaggttGatcatggtgaattcttgata	11	5	3	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:69795767G>A	uc003hef.2	-	6	1379	c.1348C>T	c.(1348-1350)CAA>TAA	p.Q450*	UGT2A3_uc010ihp.1_RNA	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	450	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)|skin(1)	2						TTTACAGGTTGATCATGGTGA	0.428													A	69795767	G	A	69795767	4	1	23	1	0	0	0	0	0	1	0	0	16952	1299	45	4	239	4	UGT2A3	4	69795767	Nonsense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	6994009	69795767	121358509	380	20974											
ADAMTS3	9508	broad.mit.edu	37	chr4	73184422	73184422	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggagacagtcataggaaCtgtaggaagaaaaatattgc	11	5	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:73184422C>T	uc003hgk.1	-	10	1390	c.1353_splice	c.e10-1	p.H451_splice		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1						collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCATAGGAACTGTAGGAAGA	0.323													T	73184422	C	T	73184422	5	4	23	1	0	0	0	0	0	0	1	0	267	579	20	4	2317	4	ADAMTS3	4	73184422	Splice_Site	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3388655	73184422	117969854	381	20975											
SHROOM3	57619	broad.mit.edu	37	chr4	77661573	77661573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagagccgcctgccccctcGcacccgcacacatccagtct	8	20	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:77661573G>A	uc011cbx.1	+	5	3200	c.2247G>A	c.(2245-2247)TCG>TCA	p.S749S	SHROOM3_uc011cbz.1_Silent_p.S573S|SHROOM3_uc003hkf.1_Silent_p.S624S|SHROOM3_uc003hkg.2_Silent_p.S527S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	749					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			CTGCCCCCTCGCACCCGCACA	0.697													A	77661573	G	A	77661573	2	1	23	1	0	0	0	0	0	0	0	1	14295	1074	38	1		1	SHROOM3	4	77661573	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	4477151	77661573	113492703	382	20976											
C4orf22	255119	broad.mit.edu	37	chr4	81884720	81884720	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactatcctgacagaactctAcgtacaagctgtcatttttg	6	11	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:81884720A>G	uc003hmf.2	+	6	705	c.656A>G	c.(655-657)TAC>TGC	p.Y219C	C4orf22_uc010ijp.2_Missense_Mutation_p.Y236C	NM_152770	NP_689983	Q6V702	CD022_HUMAN	hypothetical protein LOC255119	219										skin(2)	2						ACAGAACTCTACGTACAAGCT	0.338													G	81884720	A	G	81884720	3	3	23	1	0	0	0	0	1	0	0	0	2255	391	14	3	678	3	C4orf22	4	81884720	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	4223147	81884720	109269556	383	20977											
PRKG2	5593	broad.mit.edu	37	chr4	82090847	82090847	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtttctgtattgttcatctCtagcttgggctgtcctcctc	8	11	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:82090847C>T	uc003hmh.2	-	4	832	c.818G>A	c.(817-819)AGA>AAA	p.R273K	PRKG2_uc011cch.1_Missense_Mutation_p.R273K	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	273	cGMP 1.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						TTGTTCATCTCTAGCTTGGGC	0.363													T	82090847	C	T	82090847	3	4	23	1	0	0	0	0	1	0	0	0	12523	913	32	4	1530	4	PRKG2	4	82090847	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	206127	82090847	109063429	384	20978											
LIN54	132660	broad.mit.edu	37	chr4	83867618	83867618	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgatggtctgcacagttgAtttcactgcctattaaacaa	8	8	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:83867618A>G	uc003hnx.3	-	5	1339	c.961T>C	c.(961-963)TCA>CCA	p.S321P	LIN54_uc003hnz.3_Missense_Mutation_p.S100P|LIN54_uc003hny.3_5'UTR|LIN54_uc010ijt.2_Missense_Mutation_p.S232P|LIN54_uc010iju.2_Intron|LIN54_uc010ijv.2_Missense_Mutation_p.S100P	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	lin-54 homolog isoform a	321					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Hepatocellular(203;0.114)				TGCACAGTTGATTTCACTGCC	0.388													G	83867618	A	G	83867618	3	3	23	1	0	0	0	0	1	0	0	0	8809	333	12	3	1324	3	LIN54	4	83867618	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	1776771	83867618	107286658	385	20979											
HELQ	113510	broad.mit.edu	37	chr4	84367233	84367233	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acggcttccttcaccaatcaTgtgcaacttcgagatttttt	6	11	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:84367233T>C	uc003hom.2	-	5	1578	c.1399A>G	c.(1399-1401)ATG>GTG	p.M467V	HELQ_uc010ikb.2_Missense_Mutation_p.M400V|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	467	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)|skin(1)	3						TCACCAATCATGTGCAACTTC	0.328								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					C	84367233	T	C	84367233	3	2	23	1	0	0	0	0	1	0	0	0	7047	1464	51	3	1962	3	HELQ	4	84367233	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	499615	84367233	106787043	386	20980											
ARHGAP24	83478	broad.mit.edu	37	chr4	86916256	86916256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacagaatggaacggtgcgCatgggcattttgaacagcga	14	7	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:86916256C>T	uc003hpk.2	+	9	1898	c.1449C>T	c.(1447-1449)CGC>CGT	p.R483R	ARHGAP24_uc003hpl.2_Silent_p.R388R|ARHGAP24_uc010ikf.2_Silent_p.R398R|ARHGAP24_uc003hpm.2_Silent_p.R390R	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	483					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GAACGGTGCGCATGGGCATTT	0.522													T	86916256	C	T	86916256	2	4	23	1	0	0	0	0	0	0	0	1	873	697	25	2		2	ARHGAP24	4	86916256	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2549023	86916256	104238020	387	20981											
KLHL8	57563	broad.mit.edu	37	chr4	88091651	88091651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtattcattggtgccactGtactccactgatcagattct	8	10	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:88091651G>A	uc011cdb.1	-	7	1710	c.1325C>T	c.(1324-1326)ACA>ATA	p.T442I	KLHL8_uc003hql.1_Missense_Mutation_p.T442I|KLHL8_uc003hqm.1_Missense_Mutation_p.T366I|KLHL8_uc003hqn.1_Missense_Mutation_p.T259I|KLHL8_uc010ikj.1_Missense_Mutation_p.T91I	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	kelch-like 8	442	Kelch 3.										0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TGGTGCCACTGTACTCCACTG	0.408													A	88091651	G	A	88091651	3	1	23	1	0	0	0	0	1	0	0	0	8395	1377	48	4	553	4	KLHL8	4	88091651	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1175395	88091651	103062625	388	20982											
GRID2	2895	broad.mit.edu	37	chr4	94376883	94376883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtggactttacgacacGttacatggactactcagtgg	12	8	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:94376883G>A	uc011cdt.1	+	11	1874	c.1616G>A	c.(1615-1617)CGT>CAT	p.R539H	GRID2_uc011cdu.1_Missense_Mutation_p.R444H	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	539	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTTACGACACGTTACATGGAC	0.443													A	94376883	G	A	94376883	3	1	23	1	0	0	0	0	1	0	0	0	6772	1145	40	1	1658	1	GRID2	4	94376883	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	6285232	94376883	96777393	389	20983											
BMPR1B	658	broad.mit.edu	37	chr4	96052564	96052564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttagtactcaaggcaaacCagcaattgcccatcgagatc	7	12	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:96052564C>T	uc003htm.3	+	10	1251	c.977C>T	c.(976-978)CCA>CTA	p.P326L	BMPR1B_uc010ilb.2_Missense_Mutation_p.P326L|BMPR1B_uc003htn.3_Missense_Mutation_p.P326L	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	326	Cytoplasmic (Potential).|Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CAAGGCAAACCAGCAATTGCC	0.413													T	96052564	C	T	96052564	3	4	23	1	0	0	0	0	1	0	0	0	1470	594	21	4	1003	4	BMPR1B	4	96052564	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1675681	96052564	95101712	390	20984											
TSPAN5	10098	broad.mit.edu	37	chr4	99403314	99403314	+	Frame_Shift_Del	DEL	G	G	-													caggaagaaaataattcccaGgaacacagaaaactaagata							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:99403313_99403313AG>A	uc003hub.3	-	3	728	c.293_293CT>T	c.(292-294)ctgfs	p.L98fs	TSPAN5_uc011cdz.2_Frame_Shift_Del_p.L27fs	NM_005723	NP_005714	P62079	TSN5_HUMAN	Homo sapiens tetraspanin 5 (TSPAN5), mRNA.	98						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		AATAATTCCCAGGAACACAGA	0.363													-	99403314	G	-	99403314	7	5	23	1	0	1	0	1	0	0	0	0	16647	991	35	0	534	0	TSPAN5	4	99403314	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	3350750	99403314	91750962	391	20985											
TET2	54790	broad.mit.edu	37	chr4	106156409	106156409	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttagaagaacaccaccactAccccaaccaaagtaacacaa	3	14	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:106156409A>G	uc003hxk.2	+	3	1696	c.1310A>G	c.(1309-1311)TAC>TGC	p.Y437C	TET2_uc011cez.1_Missense_Mutation_p.Y458C|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.Y437C|TET2_uc003hxi.1_Missense_Mutation_p.Y437C	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	437					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CACCACCACTACCCCAACCAA	0.463			Mis N|F		MDS								G	106156409	A	G	106156409	3	3	23	1	0	0	0	0	1	0	0	0	15767	391	14	3	1312	3	TET2	4	106156409	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	6753095	106156409	84997867	392	20986											
INTS12	57117	broad.mit.edu	37	chr4	106621122	106621122	+	Frame_Shift_Del	DEL	A	A	-													gcaagaaacctagtgctttcAaaaaaatgggatcaagttcc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:106621121_106621121CA>C	uc003hxw.3	-	2	300	c.42_42TG>G	c.(40-42)ttgfs	p.L14fs	INTS12_uc010ilr.3_Frame_Shift_Del_p.L14fs	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	Homo sapiens integrator complex subunit 12 (INTS12), transcript variant 1, mRNA.	14					snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		CTAGTGCTTTCAAAAAAATGG	0.388													-	106621122	A	-	106621122	7	5	23	1	0	1	0	1	0	0	0	0	7777	131	5	0	1371	0	INTS12	4	106621122	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	464713	106621122	84533154	393	20987											
PAPSS1	9061	broad.mit.edu	37	chr4	108615044	108615044	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaggactaaagccaagAtttttattgagaccttgacg	8	8	2	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:108615044A>G	uc003hyk.2	-	3	378	c.294T>C	c.(292-294)AAT>AAC	p.N98N	PAPSS1_uc011cfh.1_RNA	NM_005443	NP_005434	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase	98	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TAAAGCCAAGATTTTTATTGA	0.443													G	108615044	A	G	108615044	2	3	23	1	0	0	0	0	0	0	0	1	11434	330	12	3		3	PAPSS1	4	108615044	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	1993922	108615044	82539232	394	20988											
LEF1	51176	broad.mit.edu	37	chr4	109084737	109084737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttactgttctcgggatgGgtggagaaagagatccattt	12	6	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:109084737G>A	uc003hyt.1	-	3	1056	c.401C>T	c.(400-402)CCC>CTC	p.P134L	LEF1_uc011cfj.1_Missense_Mutation_p.P19L|LEF1_uc011cfk.1_Missense_Mutation_p.P66L|LEF1_uc003hyu.1_Missense_Mutation_p.P134L|LEF1_uc003hyv.1_Missense_Mutation_p.P134L|LEF1_uc010imb.1_RNA	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1 isoform 1	134	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TCTCGGGATGGGTGGAGAAAG	0.383													A	109084737	G	A	109084737	3	1	23	1	0	0	0	0	1	0	0	0	8714	1232	43	4	918	4	LEF1	4	109084737	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	469693	109084737	82069539	395	20989											
PITX2	5308	broad.mit.edu	37	chr4	111553611	111553611	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggagtctttggagaagagAcattcaacggccgccggctg	14	10	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:111553611A>G	uc003iad.2	-	3	654	c.72T>C	c.(70-72)TGT>TGC	p.C24C	PITX2_uc003iae.2_Intron|PITX2_uc010iml.2_5'UTR|PITX2_uc003iaf.2_Silent_p.C24C	NM_153426	NP_700475	Q99697	PITX2_HUMAN	paired-like homeodomain transcription factor 2	24					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TGGAGAAGAGACATTCAACGG	0.662													G	111553611	A	G	111553611	2	3	23	1	0	0	0	0	0	0	0	1	11955	273	10	3		3	PITX2	4	111553611	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	2468874	111553611	79600665	396	20990											
ANK2	287	broad.mit.edu	37	chr4	114275575	114275575	+	Frame_Shift_Del	DEL	A	A	-													agtatcgcctgggagaacagAaaaacgcttgcctgtttcac							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:114275574_114275574GA>G	uc003ibe.4	+	37	5900	c.5800_5800GA>G	c.(5800-5802)gaafs	p.E1934fs	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Frame_Shift_Del_p.E1949fs	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1901	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGGAGAACAGAAAAACGCTT	0.542													-	114275575	A	-	114275575	7	5	23	1	0	1	0	1	0	0	0	0	621	246	9	0	6016	0	ANK2	4	114275575	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	2721964	114275575	76878701	397	20991											
TRAM1L1	133022	broad.mit.edu	37	chr4	118005517	118005517	+	Frame_Shift_Del	DEL	T	T	-													tcccactccgttttctgttcTttttttagaagatctcgacc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:118005516_118005516CT>C	uc003ibv.4	-	0	1221	c.1034_1034AG>G	c.(1033-1035)agafs	p.R345fs		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	345					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GTTTTCTGTTCTTTTTTTAGA	0.388													-	118005517	T	-	118005517	7	5	23	1	0	1	0	1	0	0	0	0	16449	1617	56	0	80	0	TRAM1L1	4	118005517	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	3729942	118005517	73148759	398	20992											
USP53	54532	broad.mit.edu	37	chr4	120177651	120177651	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaccttttacagaatttgTgcggtacatttctacaacag	6	9	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:120177651T>C	uc003ics.3	+	8	1608	c.542T>C	c.(541-543)GTG>GCG	p.V181A	USP53_uc003icr.3_Missense_Mutation_p.V181A|USP53_uc003icu.3_5'UTR	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	181					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4						ACAGAATTTGTGCGGTACATT	0.318													C	120177651	T	C	120177651	3	2	23	1	0	0	0	0	1	0	0	0	17081	1696	59	3	560	3	USP53	4	120177651	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	2172134	120177651	70976625	399	20993											
USP53	54532	broad.mit.edu	37	chr4	120193037	120193037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccttgtagagggtaaagtGcatggtgataattggcagat	15	4	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:120193037G>A	uc003ics.3	+	15	3088	c.2022G>A	c.(2020-2022)GTG>GTA	p.V674V	USP53_uc003icr.3_Silent_p.V674V|USP53_uc003icu.3_Silent_p.V297V|USP53_uc003ict.2_Silent_p.V297V	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	674					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4						AGGGTAAAGTGCATGGTGATA	0.393													A	120193037	G	A	120193037	2	1	23	1	0	0	0	0	0	0	0	1	17081	1306	46	2		2	USP53	4	120193037	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	15386	120193037	70961239	400	20994											
KIAA1109	84162	broad.mit.edu	37	chr4	123165029	123165029	+	Frame_Shift_Del	DEL	A	A	-													tacgccgtatactccattggAaaaaaaactcgctgataaca							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:123165028_123165028GA>G	uc003ieh.3	+	28	4807	c.4762_4762GA>G	c.(4762-4764)gaafs	p.E1588fs	KIAA1109_uc003iek.2_Frame_Shift_Del_p.E207fs	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1588					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TACTCCATTGGAAAAAAAACT	0.383													-	123165029	A	-	123165029	7	5	23	1	0	1	0	1	0	0	0	0	8208	246	9	0	4877	0	KIAA1109	4	123165029	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	2971992	123165029	67989247	401	20995											
ADAD1	132612	broad.mit.edu	37	chr4	123301319	123301319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcaaccagcgacaaagaCgataactacacccacaggat	7	12	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:123301319C>T	uc003ieo.2	+	3	327	c.95C>T	c.(94-96)ACG>ATG	p.T32M	ADAD1_uc003iep.2_Missense_Mutation_p.T32M|ADAD1_uc003ieq.2_Missense_Mutation_p.T14M	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	32					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						GCGACAAAGACGATAACTACA	0.473													T	123301319	C	T	123301319	3	4	23	1	0	0	0	0	1	0	0	0	231	536	19	1	97	1	ADAD1	4	123301319	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	136290	123301319	67852957	402	20996											
FAT4	79633	broad.mit.edu	37	chr4	126370100	126370100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatggatagaggccagagaCggtggtttccctcctttctc	12	10	1	2	rs146157250	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:126370100C>T	uc003ifj.3	+	9	7929	c.7929C>T	c.(7927-7929)GAC>GAT	p.D2643D	FAT4_uc011cgp.1_Silent_p.D941D|FAT4_uc003ifi.1_Silent_p.D121D	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2643	Extracellular (Potential).|Cadherin 25.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						aggccagagacggtggtttcc	0.134													T	126370100	C	T	126370100	2	4	23	1	0	0	0	0	0	0	0	1	5692	535	19	1		1	FAT4	4	126370100	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3068781	126370100	64784176	403	20997											
LARP1B	55132	broad.mit.edu	37	chr4	129012184	129012184	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagatagagaaaaaagggaTgatcaagatgacgtttccag	12	5	1	5			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:129012184T>C	uc003iga.2	+	6	518	c.387T>C	c.(385-387)GAT>GAC	p.D129D	LARP1B_uc003ifw.1_Silent_p.D82D|LARP1B_uc003ifx.2_Silent_p.D129D|LARP1B_uc003ify.2_Silent_p.D129D|LARP1B_uc003ifz.1_Silent_p.D129D	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family member 2	129	Arg-rich.						RNA binding				0						AAAAAAGGGATGATCAAGATG	0.398													C	129012184	T	C	129012184	2	2	23	1	0	0	0	0	0	0	0	1	8629	1461	51	3		3	LARP1B	4	129012184	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	2642084	129012184	62142092	404	20998											
SCLT1	132320	broad.mit.edu	37	chr4	129864163	129864164	+	Frame_Shift_Ins	INS	-	-	T													aaaatacctttactttggctINStttttttgagcctccagggc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:129864162_129864163C>CT	uc003igp.2	-	16	2126_2127	c.1620_1621G>AG	c.(1618-1623)aaagccfs	p.K540fs	SCLT1_uc003ign.2_Frame_Shift_Ins_p.K204fs|SCLT1_uc003igo.2_Frame_Shift_Ins_p.K150fs|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	540						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTTACTTTGGCTTTTTTTTGAG	0.356													T	129864164	-	T	129864163	7	5	23	1	0	1	1	0	0	0	0	0	13906	1606	56	0	466	0	SCLT1	4	129864163	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	851979	129864163	61290113	405	20999											
PCDH18	54510	broad.mit.edu	37	chr4	138453025	138453026	+	Frame_Shift_Ins	INS	-	-	T													tactacaagtagaggagaatINSttcccctctgcatggctcga							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:138453024_138453025A>AT	uc003ihe.4	-	0	605_606	c.218_219T>AT	c.(217-219)aatfs	p.N73fs	PCDH18_uc003ihf.4_Frame_Shift_Ins_p.N66fs|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	73	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTAGAGGAGAATTTCCCCTCTG	0.426													T	138453026	-	T	138453025	7	5	23	1	0	1	1	0	0	0	0	0	11513	1493	52	0	3205	0	PCDH18	4	138453025	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	8588862	138453025	52701251	406	21000											
GAB1	2549	broad.mit.edu	37	chr4	144387375	144387375	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaaatccacaccaccacgTaaggtgagtgacatgtgaca	11	10	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:144387375T>C	uc003ije.2	+	9	2282	c.1923T>C	c.(1921-1923)CGT>CGC	p.R641R	GAB1_uc003ijd.2_Silent_p.R671R|GAB1_uc011chq.1_Silent_p.R538R	NM_002039	NP_002030	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1 isoform b	641					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(2)|lung(1)|skin(1)	4	all_hematologic(180;0.158)					CACCACCACGTAAGGTGAGTG	0.398													C	144387375	T	C	144387375	2	2	23	1	0	0	0	0	0	0	0	1	6148	1625	57	3		3	GAB1	4	144387375	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	5934350	144387375	46766901	407	21001											
DCHS2	54798	broad.mit.edu	37	chr4	155254486	155254486	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctcggtgctgctgcaggcTggggcgctgccgagctgcgc	17	14	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:155254486T>C	uc003inw.2	-	9	1377	c.1377A>G	c.(1375-1377)CCA>CCG	p.P459P	DCHS2_uc003inx.2_Silent_p.P958P	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	459	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGCTGCAGGCTGGGGCGCTGC	0.607													C	155254486	T	C	155254486	2	2	23	1	0	0	0	0	0	0	0	1	4288	1567	55	3		3	DCHS2	4	155254486	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	10867111	155254486	35899790	408	21002											
LRAT	9227	broad.mit.edu	37	chr4	155665562	155665562	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacgctctttagttcgggCgccgcgggcgaagacaaagg	14	11	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:155665562C>T	uc003iom.1	+	1	411	c.84C>T	c.(82-84)GGC>GGT	p.G28G	uc003iol.2_Intron|LRAT_uc003ion.1_Silent_p.G28G	NM_004744	NP_004735	O95237	LRAT_HUMAN	lecithin retinol acyltransferase	28	Cytoplasmic (By similarity).				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)	1	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TTAGTTCGGGCGCCGCGGGCG	0.572													T	155665562	C	T	155665562	2	4	23	1	0	0	0	0	0	0	0	1	8930	755	27	1		1	LRAT	4	155665562	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	411076	155665562	35488714	409	21003											
RBM46	166863	broad.mit.edu	37	chr4	155720533	155720533	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attactgcaacaaaaataacTgggcaccaccagaatattat	5	9	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:155720533T>A	uc003ioo.2	+	4	1392	c.1219T>A	c.(1219-1221)TGG>AGG	p.W407R	RBM46_uc011cim.1_Missense_Mutation_p.W407R|RBM46_uc003iop.1_Missense_Mutation_p.W407R	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	407							nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				CAAAAATAACTGGGCACCACC	0.328													A	155720533	T	A	155720533	3	1	23	1	0	0	0	0	1	0	0	0	13140	1580	55	5	1229	5	RBM46	4	155720533	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	54971	155720533	35433743	410	21004											
GRIA2	2891	broad.mit.edu	37	chr4	158254500	158254500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcaaaactaatgggcccCggaaggtaaatccttagtga	10	9	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:158254500C>T	uc003ipm.3	+	8	1609	c.1150C>T	c.(1150-1152)CGG>TGG	p.R384W	GRIA2_uc011cit.1_Missense_Mutation_p.R337W|GRIA2_uc003ipl.3_Missense_Mutation_p.R384W|GRIA2_uc003ipk.3_Missense_Mutation_p.R337W|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	384	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TAATGGGCCCCGGAAGGTAAA	0.398													T	158254500	C	T	158254500	3	4	23	1	0	0	0	0	1	0	0	0	6768	643	23	1	1180	1	GRIA2	4	158254500	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2533967	158254500	32899776	411	21005											
TRIM60	166655	broad.mit.edu	37	chr4	165961522	165961522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatgccatgtgtgaaaaaCacaaccagtttctgaccctc	7	11	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:165961522C>T	uc003iqy.1	+	3	468	c.298C>T	c.(298-300)CAC>TAC	p.H100Y	TRIM60_uc010iqx.1_Missense_Mutation_p.H100Y	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	ring finger protein 129	100	B box-type.					intracellular	zinc ion binding			skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GTGTGAAAAACACAACCAGTT	0.428													T	165961522	C	T	165961522	3	4	23	1	0	0	0	0	1	0	0	0	16532	478	17	4	300	4	TRIM60	4	165961522	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	7707022	165961522	25192754	412	21006											
DDX60L	91351	broad.mit.edu	37	chr4	169393087	169393087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatttaatatgctggaataCctaaaataaaaatcaaagag	5	5	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:169393087C>T	uc003irq.3	-	4	296	c.75G>A	c.(73-75)GGG>GGA	p.G25G	DDX60L_uc003irr.1_Silent_p.G25G|DDX60L_uc003irt.1_Silent_p.G25G	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	25							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TGCTGGAATACCTAAAATAAA	0.289													T	169393087	C	T	169393087	2	4	23	1	0	0	0	0	0	0	0	1	4379	521	18	4		4	DDX60L	4	169393087	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3431565	169393087	21761189	413	21007											
IRF2	3660	broad.mit.edu	37	chr4	185339800	185339800	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcaggcaaggaattcatggCgcatctgaaattcgccttcc	9	11	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:185339800C>G	uc003iwf.3	-	4	450	c.250G>C	c.(250-252)GCC>CCC	p.A84P		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	84	IRF tryptophan pentad repeat.				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GAATTCATGGCGCATCTGAAA	0.398													G	185339800	C	G	185339800	3	3	23	1	0	0	0	0	1	0	0	0	7828	768	27	5	823	5	IRF2	4	185339800	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	15946713	185339800	5814476	414	21008											
CCDC110	256309	broad.mit.edu	37	chr4	186379494	186379494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattttctatgcttcttacGtaattttctaaaagtatttt	3	6	4	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:186379494G>A	uc003ixu.3	-	6	2323	c.2247C>T	c.(2245-2247)TAC>TAT	p.Y749Y	CCDC110_uc003ixv.3_Silent_p.Y712Y|CCDC110_uc011ckt.1_Silent_p.Y749Y	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	749	Potential.					nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TGCTTCTTACGTAATTTTCTA	0.284													A	186379494	G	A	186379494	2	1	23	1	0	0	0	0	0	0	0	1	2747	1140	40	1		1	CCDC110	4	186379494	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1039694	186379494	4774782	415	21009											
SORBS2	8470	broad.mit.edu	37	chr4	186515044	186515044	+	Frame_Shift_Del	DEL	C	C	-													taagaagaatacttacggttCccccccaccttgaatatttt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:186515043_186515043TC>T	uc003iyg.3	-	18	3505	c.3473_3473GA>A	c.(3472-3474)gaafs	p.E1158fs	SORBS2_uc003iyh.3_Frame_Shift_Del_p.E768fs|SORBS2_uc011ckw.2_Frame_Shift_Del_p.E605fs|SORBS2_uc003iyi.3_Frame_Shift_Del_p.E675fs|SORBS2_uc011ckx.2_Frame_Shift_Del_p.E610fs|SORBS2_uc003iyk.3_Frame_Shift_Del_p.E588fs|SORBS2_uc003iym.3_Frame_Shift_Del_p.E1144fs|SORBS2_uc003iyl.3_Frame_Shift_Del_p.E1044fs|SORBS2_uc003iyn.1_Frame_Shift_Del_p.E635fs|SORBS2_uc011cku.2_Frame_Shift_Del_p.E436fs|SORBS2_uc011ckv.2_Frame_Shift_Del_p.E948fs|SORBS2_uc003iyd.3_Frame_Shift_Del_p.E743fs|SORBS2_uc003iye.3_Frame_Shift_Del_p.E617fs|SORBS2_uc003iya.3_Frame_Shift_Del_p.E564fs|SORBS2_uc003iyb.3_Frame_Shift_Del_p.E517fs|SORBS2_uc003iyc.3_Frame_Shift_Del_p.E497fs|SORBS2_uc003iyf.3_Frame_Shift_Del_p.E580fs	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	1044						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E1044fs*8(2)|p.E605fs*8(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TACTTACGGTTCCCCCCCACC	0.353													-	186515044	C	-	186515044	7	5	23	1	0	1	0	1	0	0	0	0	14928	864	30	0	184	0	SORBS2	4	186515044	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	135550	186515044	4639232	416	21010											
SORBS2	8470	broad.mit.edu	37	chr4	186583258	186583258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggtgagtaaattacttacCgagggatgtgccgtgctgca	13	8	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:186583258C>T	uc003iyl.2	-	5	952	c.94G>A	c.(94-96)GAT>AAT	p.D32N	SORBS2_uc003iyh.2_Missense_Mutation_p.D211N|SORBS2_uc011ckw.1_Missense_Mutation_p.D101N|SORBS2_uc003iyi.2_Missense_Mutation_p.D118N|SORBS2_uc011ckx.1_Missense_Mutation_p.D78N|SORBS2_uc003iyk.2_Missense_Mutation_p.D118N|SORBS2_uc003iym.2_Missense_Mutation_p.D132N|SORBS2_uc003iyn.1_Missense_Mutation_p.D78N|SORBS2_uc011cky.1_Missense_Mutation_p.D95N|SORBS2_uc003iyp.2_Missense_Mutation_p.D132N|SORBS2_uc003iyd.2_Missense_Mutation_p.D211N|SORBS2_uc003iye.2_Missense_Mutation_p.D32N|SORBS2_uc003iya.2_Missense_Mutation_p.D32N|SORBS2_uc003iyb.2_Missense_Mutation_p.D32N|SORBS2_uc003iyc.2_Missense_Mutation_p.D32N|SORBS2_uc003iyg.2_Missense_Mutation_p.D118N|SORBS2_uc003iyf.2_Missense_Mutation_p.D95N	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	32						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AATTACTTACCGAGGGATGTG	0.527													T	186583258	C	T	186583258	3	4	23	1	0	0	0	0	1	0	0	0	14928	666	23	1	3616	1	SORBS2	4	186583258	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	68214	186583258	4571018	417	21011											
FAT1	2195	broad.mit.edu	37	chr4	187519161	187519162	+	Frame_Shift_Del	DEL	AA	AA	-													aatcctctacactggcaaacAaagcctccgttgtcgacaac							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:187519160_187519161CAA>C	uc003izf.3	-	22	12410_12411	c.12222_12223TTG>G	c.(12220-12225)tttgttfs	p.F4074fs	FAT1_uc010isn.3_5'Flank	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	4074	EGF-like 3.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CACTGGCAAACAAAGCCTCCGT	0.416										HNSCC(5;0.00058)			-	187519162	AA	-	187519161	7	5	23	1	0	1	0	1	0	0	0	0	5689	127	5	0	1564	0	FAT1	4	187519161	Frame_Shift_Del	DEL	AA	TCGA-BR-4368-01A-01D-1158-08	935903	187519161	3635115	418	21012											
ZDHHC11	79844	broad.mit.edu	37	chr5	840720	840720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagggtctgcacctgcaccGggaacagggggaggaacagc	16	11	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:840720G>A	uc011cma.1	-	5	1058	c.674C>T	c.(673-675)CCG>CTG	p.P225L	ZDHHC11_uc003jbj.2_RNA|ZDHHC11_uc010itd.1_RNA|ZDHHC11_uc003jbk.2_Missense_Mutation_p.P12L	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	225						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)|pancreas(1)	2			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CACCTGCACCGGGAACAGGGG	0.587													A	840720	G	A	840720	3	1	23	1	0	0	0	0	1	0	0	0	17598	1116	39	1	596	1	ZDHHC11	5	840720	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08		840720	180074540	419	21013											
CLPTM1L	81037	broad.mit.edu	37	chr5	1325892	1325892	+	Frame_Shift_Del	DEL	A	A	-													ttcgggcatcaggcctctccAaaaaatagtcatcttcaatg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:1325891_1325891CA>C	uc003jch.3	-	9	1167	c.1121_1121TG>G	c.(1120-1122)tggfs	p.W374fs	CLPTM1L_uc003jcg.3_Frame_Shift_Del_p.W205fs	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Homo sapiens CLPTM1-like (CLPTM1L), mRNA.	374					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CAGGCCTCTCCAAAAAATAGT	0.453													-	1325892	A	-	1325892	7	5	23	1	0	1	0	1	0	0	0	0	3555	130	5	0	528	0	CLPTM1L	5	1325892	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	485172	1325892	179589368	420	21014											
IRX1	79192	broad.mit.edu	37	chr5	3599758	3599758	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaaagcatcgacattgacaaGatcgacgagcacgatggcga	12	9	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:3599758G>C	uc003jde.2	+	2	748	c.696G>C	c.(694-696)AAG>AAC	p.K232N		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	232						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						ACATTGACAAGATCGACGAGC	0.642													C	3599758	G	C	3599758	3	2	23	1	0	0	0	0	1	0	0	0	7843	933	33	5	702	5	IRX1	5	3599758	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2273866	3599758	177315502	421	21015											
ADAMTS16	170690	broad.mit.edu	37	chr5	5306831	5306831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagctggtttgcctcacCctggtctcaggtaggggagg	17	10	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:5306831C>T	uc003jdl.2	+	21	3539	c.3401C>T	c.(3400-3402)CCC>CTC	p.P1134L		NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1134	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						TTTGCCTCACCCTGGTCTCAG	0.697													T	5306831	C	T	5306831	3	4	23	1	0	0	0	0	1	0	0	0	261	623	22	4	3483	4	ADAMTS16	5	5306831	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1707073	5306831	175608429	422	21016											
MTRR	4552	broad.mit.edu	37	chr5	7875406	7875406	+	Frame_Shift_Del	DEL	G	G	-													aatacacctacttttgcaatGgggggaagataattgataaa							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:7875405_7875405TG>T	uc003jed.3	+	3	429	c.399_399TG>T	c.(397-399)aatfs	p.N133fs	MTRR_uc010itn.1_Non-coding_Transcript|MTRR_uc003jee.4_Frame_Shift_Del_p.N106fs|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Non-coding_Transcript	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA.	133	Flavodoxin-like.				methionine biosynthetic process	cytosol	FMN binding|NADP binding|[methionine synthase] reductase activity|flavin adenine dinucleotide binding|iron ion binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	ACTTTTGCAATGGGGGGAAGA	0.408													-	7875406	G	-	7875406	7	5	23	1	0	1	0	1	0	0	0	0	9961	1348	47	0	414	0	MTRR	5	7875406	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	2568575	7875406	173039854	423	21017											
SEMA5A	9037	broad.mit.edu	37	chr5	9154620	9154620	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgtgtgcggtagaactgGcacctcttcagggggatctt	14	10	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:9154620G>A	uc003jek.2	-	12	2173	c.1461C>T	c.(1459-1461)TGC>TGT	p.C487C		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	487	Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						GGTAGAACTGGCACCTCTTCA	0.637													A	9154620	G	A	9154620	2	1	23	1	0	0	0	0	0	0	0	1	14037	1195	42	2		2	SEMA5A	5	9154620	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1279214	9154620	171760640	424	21018											
FAM173B	134145	broad.mit.edu	37	chr5	10239372	10239372	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacaagcccagtaagtaagAacccccagttgcttttctgc	7	14	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:10239372A>G	uc003jeo.2	-	2	142	c.113T>C	c.(112-114)TTC>TCC	p.F38S	FAM173B_uc003jep.2_RNA|FAM173B_uc010itr.2_Missense_Mutation_p.F38S	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN	hypothetical protein LOC134145	38	Helical; (Potential).					integral to membrane				kidney(1)|central_nervous_system(1)	2						AGTAAGTAAGAACCCCCAGTT	0.478													G	10239372	A	G	10239372	3	3	23	1	0	0	0	0	1	0	0	0	5494	246	9	3	604	3	FAM173B	5	10239372	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	1084752	10239372	170675888	425	21019											
CCT5	22948	broad.mit.edu	37	chr5	10260965	10260965	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgatgatgaagcaaatcActtacttcttcagaacaact	5	9	3	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:10260965A>G	uc003jeq.2	+	7	1106	c.935A>G	c.(934-936)CAC>CGC	p.H312R	CCT5_uc011cmq.1_Missense_Mutation_p.H159R|CCT5_uc003jer.2_Missense_Mutation_p.H312R|CCT5_uc010its.2_Missense_Mutation_p.H312R|CCT5_uc011cmr.1_Missense_Mutation_p.H257R|CCT5_uc011cms.1_Missense_Mutation_p.H274R|CCT5_uc011cmt.1_Missense_Mutation_p.H219R	NM_012073	NP_036205	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	312					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			ovary(2)	2						GAAGCAAATCACTTACTTCTT	0.448													G	10260965	A	G	10260965	3	3	23	1	0	0	0	0	1	0	0	0	2956	159	6	3	961	3	CCT5	5	10260965	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	21593	10260965	170654295	426	21020											
DNAH5	1767	broad.mit.edu	37	chr5	13928247	13928247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatagtaaaacatgaggtgtCggagacctccaacagcaaaa	10	8	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:13928247C>T	uc003jfd.2	-	3	275	c.233G>A	c.(232-234)CGA>CAA	p.R78Q	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	78	Stem (By similarity).				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)					CATGAGGTGTCGGAGACCTCC	0.348									Kartagener_syndrome				T	13928247	C	T	13928247	3	4	23	1	0	0	0	0	1	0	0	0	4604	884	31	1	13949	1	DNAH5	5	13928247	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3667282	13928247	166987013	427	21021											
ANKH	56172	broad.mit.edu	37	chr5	14713763	14713763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagccacccggtgagatgCgccctcactgtgactgttgg	12	13	2	2	rs146419748		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:14713763C>T	uc003jfm.3	-	10	1486	c.1155G>A	c.(1153-1155)GCG>GCA	p.A385A	ANKH_uc003jfl.3_Silent_p.A98A	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	progressive ankylosis protein	385	Cytoplasmic (Potential).				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			upper_aerodigestive_tract(1)	1						CGGTGAGATGCGCCCTCACTG	0.617													T	14713763	C	T	14713763	2	4	23	1	0	0	0	0	0	0	0	1	627	755	27	1		1	ANKH	5	14713763	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	785516	14713763	166201497	428	21022											
CDH6	1004	broad.mit.edu	37	chr5	31267788	31267788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaggaatacacaggatccGattatcagtatgtgggcaag	13	6	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:31267788G>A	uc003jhe.1	+	2	534	c.208G>A	c.(208-210)GAT>AAT	p.D70N	CDH6_uc003jhd.1_Missense_Mutation_p.D70N	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	70	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						CACAGGATCCGATTATCAGTA	0.443													A	31267788	G	A	31267788	3	1	23	1	0	0	0	0	1	0	0	0	3114	1058	37	1	210	1	CDH6	5	31267788	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	16554025	31267788	149647472	429	21023											
PDZD2	23037	broad.mit.edu	37	chr5	32061224	32061224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttcgccttgtcatcggccGgcaccctaatccaaaggtga	10	14	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:32061224G>A	uc003jhl.2	+	14	2823	c.2435G>A	c.(2434-2436)CGG>CAG	p.R812Q	PDZD2_uc003jhm.2_Missense_Mutation_p.R812Q|PDZD2_uc011cnx.1_Missense_Mutation_p.R638Q	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	812	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GTCATCGGCCGGCACCCTAAT	0.522													A	32061224	G	A	32061224	3	1	23	1	0	0	0	0	1	0	0	0	11701	1116	39	1	2485	1	PDZD2	5	32061224	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	793436	32061224	148854036	430	21024											
SLC45A2	51151	broad.mit.edu	37	chr5	33963963	33963963	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttgcaacctctgtaagtgGggcttcagagatactgcaca	10	10	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:33963963G>T	uc003jid.2	-	3	813	c.721C>A	c.(721-723)CCA>ACA	p.P241T	SLC45A2_uc003jie.2_Missense_Mutation_p.P241T|SLC45A2_uc003jif.3_Intron|SLC45A2_uc011coe.1_Intron	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	241	Cytoplasmic (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						TCTGTAAGTGGGGCTTCAGAG	0.473													T	33963963	G	T	33963963	3	4	23	1	0	0	0	0	1	0	0	0	14641	1232	43	5	906	5	SLC45A2	5	33963963	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1902739	33963963	146951297	431	21025											
SPEF2	79925	broad.mit.edu	37	chr5	35694403	35694403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaggatccacaacatgTattttcagctggtccagttt	7	10	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:35694403T>C	uc003jjo.2	+	13	2024	c.1913T>C	c.(1912-1914)GTA>GCA	p.V638A	SPEF2_uc003jjq.3_Missense_Mutation_p.V638A|SPEF2_uc003jjp.1_Missense_Mutation_p.V129A	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	638					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACAACATGTATTTTCAGCT	0.318													C	35694403	T	C	35694403	3	2	23	1	0	0	0	0	1	0	0	0	15034	1638	57	3	1984	3	SPEF2	5	35694403	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	1730440	35694403	145220857	432	21026											
PARP8	79668	broad.mit.edu	37	chr5	50090845	50090845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtcacacaggacctttgGccgctccttgtccagcgatc	9	14	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:50090845G>A	uc003jon.3	+	13	1204	c.1022G>A	c.(1021-1023)GGC>GAC	p.G341D	PARP8_uc011cpz.1_Missense_Mutation_p.G233D|PARP8_uc003joo.2_Missense_Mutation_p.G341D|PARP8_uc003jop.2_Missense_Mutation_p.G341D	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	341						intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				AGGACCTTTGGCCGCTCCTTG	0.522													A	50090845	G	A	50090845	3	1	23	1	0	0	0	0	1	0	0	0	11465	1203	42	2	1068	2	PARP8	5	50090845	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	14396442	50090845	130824415	433	21027											
MOCS2	4338	broad.mit.edu	37	chr5	52402940	52402940	+	Frame_Shift_Del	DEL	G	G	-													aagcactatcctccactaatGggggggataacggcaatttc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:52402939_52402939TG>T	uc003joz.3	-	2	480	c.66_66CA>A	c.(64-66)ccafs	p.P22fs	MOCS2_uc011cqf.2_Frame_Shift_Del_p.I85fs|LOC257396_uc003jpb.2_5'Flank	NM_004531	NP_004522	O96033	MOC2A_HUMAN	Homo sapiens molybdenum cofactor synthesis 2 (MOCS2), transcript variant 3, mRNA.	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	p.P21P(1)		endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATA	0.428													-	52402940	G	-	52402940	7	5	23	1	0	1	0	1	0	0	0	0	9691	1348	47	0	521	0	MOCS2	5	52402940	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	2312095	52402940	128512320	434	21028											
NDUFS4	4724	broad.mit.edu	37	chr5	52954446	52954446	+	Frame_Shift_Del	DEL	A	A	-													agatgcagtttcctttgcagAaaaaaatggtatgtttggtc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:52954445_52954445GA>G	uc003jpe.2	+	3	443	c.415_415GA>G	c.(415-417)gaafs	p.E139fs		NM_002495	NP_002486	O43181	NDUS4_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) (NDUFS4), nuclear gene encoding mitochondrial protein, mRNA.	139					brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(3)	10		Lung NSC(810;8.27e-05)|Breast(144;0.0848)			NADH(DB00157)	TTCCTTTGCAGAAAAAAATGG	0.303													-	52954446	A	-	52954446	7	5	23	1	0	1	0	1	0	0	0	0	10294	246	9	0	430	0	NDUFS4	5	52954446	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	551506	52954446	127960814	435	21029											
CDC20B	166979	broad.mit.edu	37	chr5	54423154	54423154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaagcatatttctcagcCgctttttagttaccacatcc	5	13	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:54423154C>T	uc003jpo.1	-	8	1095	c.920G>A	c.(919-921)CGG>CAG	p.R307Q	CDC20B_uc003jpn.1_Missense_Mutation_p.R307Q|CDC20B_uc010ivu.1_Missense_Mutation_p.R307Q|CDC20B_uc010ivv.1_Missense_Mutation_p.R307Q	NM_152623	NP_689836	Q86Y33	CD20B_HUMAN	CDC20 cell division cycle 20 homolog B isoform	307	WD 2.										0		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ATTTCTCAGCCGCTTTTTAGT	0.438													T	54423154	C	T	54423154	3	4	23	1	0	0	0	0	1	0	0	0	3060	652	23	1	659	1	CDC20B	5	54423154	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1468708	54423154	126492106	436	21030											
RAB3C	115827	broad.mit.edu	37	chr5	58120900	58120900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatactcttgggacaatgCccaagttattctggttggga	10	8	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:58120900C>T	uc003jrp.2	+	4	504	c.407C>T	c.(406-408)GCC>GTC	p.A136V		NM_138453	NP_612462	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	136					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			ovary(1)|central_nervous_system(1)	2		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		TGGGACAATGCCCAAGTTATT	0.413													T	58120900	C	T	58120900	3	4	23	1	0	0	0	0	1	0	0	0	12933	739	26	2	421	2	RAB3C	5	58120900	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3697746	58120900	122794360	437	21031											
IPO11	51194	broad.mit.edu	37	chr5	61822085	61822085	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaagatggtttagaattatgGtaagaggaaaaacttaatac	10	2	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:61822085G>C	uc003jtc.2	+	21	2202	c.2012_splice	c.e21+1	p.W671_splice	IPO11_uc011cqr.1_Splice_Site_p.W711_splice|IPO11_uc003jtd.1_Splice_Site|IPO11_uc010iwr.2_Intron	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2							cytoplasm|nucleus	protein binding			lung(2)|skin(2)	4		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TAGAATTATGGTAAGAGGAAA	0.383													C	61822085	G	C	61822085	5	2	23	1	0	0	0	0	0	0	1	0	7793	1275	44	5	2215	5	IPO11	5	61822085	Splice_Site	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3701185	61822085	119093175	438	21032											
C5orf44	80006	broad.mit.edu	37	chr5	64946675	64946676	+	Frame_Shift_Ins	INS	-	-	A													tatacaactcaggctggagaINSaaaaatgtatttcagaaaat							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:64946674_64946675G>GA	uc003jua.4	+	5	796_797	c.466_467G>GA	c.(466-468)gaafs	p.E156fs	C5orf44_uc003jtz.4_Frame_Shift_Ins_p.E156fs|C5orf44_uc010iwv.3_Frame_Shift_Ins_p.E156fs|C5orf44_uc003juc.4_Frame_Shift_Ins_p.E156fs	NM_001093755	NP_001087224	A5PLN9	CE044_HUMAN	Homo sapiens chromosome 5 open reading frame 44 (C5orf44), transcript variant 1, mRNA.	156										kidney(4)|large_intestine(2)|lung(1)|ovary(1)	8						TCAGGCTGGAGAAAAAATGTAT	0.297													A	64946676	-	A	64946675	7	5	23	1	0	1	1	0	0	0	0	0	2303	246	9	0	489	0	C5orf44	5	64946675	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	3124590	64946675	115968585	439	21033											
ERBB2IP	55914	broad.mit.edu	37	chr5	65319175	65319175	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttggatggatgctaatagaCtgacttttattccaggggta	11	5	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:65319175C>A	uc003juk.1	+	9	963	c.655C>A	c.(655-657)CTG>ATG	p.L219M	ERBB2IP_uc003juh.1_Missense_Mutation_p.L219M|ERBB2IP_uc003jui.1_Missense_Mutation_p.L219M|ERBB2IP_uc003juj.1_Missense_Mutation_p.L219M|ERBB2IP_uc011cqx.1_Missense_Mutation_p.L219M|ERBB2IP_uc011cqy.1_Missense_Mutation_p.L219M|ERBB2IP_uc011cqz.1_Missense_Mutation_p.L219M|ERBB2IP_uc010iwx.1_Missense_Mutation_p.L219M|ERBB2IP_uc003jul.1_Missense_Mutation_p.L219M	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	219	LRR 9.				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TGCTAATAGACTGACTTTTAT	0.348													A	65319175	C	A	65319175	3	1	23	1	0	0	0	0	1	0	0	0	5207	564	20	5	681	5	ERBB2IP	5	65319175	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	372500	65319175	115596085	440	21034											
CCDC125	202243	broad.mit.edu	37	chr5	68590716	68590716	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatgacaaaggcaggctccGaggaccgcaagctttaaatt	10	11	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:68590716G>A	uc003jvv.1	-	8	871	c.828C>T	c.(826-828)CTC>CTT	p.L276L	CCDC125_uc003jvx.1_Silent_p.L275L|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_Silent_p.L151L	NM_176816	NP_789786	Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	276						cytoplasm					0		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		GGCAGGCTCCGAGGACCGCAA	0.488													A	68590716	G	A	68590716	2	1	23	1	0	0	0	0	0	0	0	1	2761	1045	37	1		1	CCDC125	5	68590716	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3271541	68590716	112324544	441	21035											
GTF2H2C	728340	broad.mit.edu	37	chr5	68875669	68875669	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgctagctcaagttcTgaatgctcacttattcgtat	6	12	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:68875669T>C	uc003jwx.3	+	11	806	c.735T>C	c.(733-735)TCT>TCC	p.S245S	GTF2H2C_uc003jww.1_3'UTR|GTF2H2C_uc003jwz.3_Silent_p.S245S|GTF2H2C_uc011cre.1_Silent_p.S188S|GTF2H2C_uc003jwy.3_Silent_p.S245S|GTF2H2C_uc003jxa.1_5'Flank	NM_001098728	NP_001092198	Q6P1K8	T2H2L_HUMAN	general transcription factor IIH, polypeptide	245					DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding				0						GCTCAAGTTCTGAATGCTCAC	0.328													C	68875669	T	C	68875669	2	2	23	1	0	0	0	0	0	0	0	1	6862	1567	55	3		3	GTF2H2C	5	68875669	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	284953	68875669	112039591	442	21036											
CARTPT	9607	broad.mit.edu	37	chr5	71015123	71015123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgacgagtttcagaacgatGgagagctcccgcgtgaggct	14	10	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:71015123G>A	uc003kbv.1	+	1	130	c.3G>A	c.(1-3)ATG>ATA	p.M1I		NM_004291	NP_004282	Q16568	CART_HUMAN	cocaine- and amphetamine-regulated transcript	1					activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space				ovary(1)	1		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	TCAGAACGATGGAGAGCTCCC	0.652													A	71015123	G	A	71015123	3	1	23	1	0	0	0	0	1	0	0	0	2659	1348	47	4	5	4	CARTPT	5	71015123	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2139454	71015123	109900137	443	21037											
ZNF366	167465	broad.mit.edu	37	chr5	71756924	71756924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtagaattggaagcccaCgttgcacaggtcgatcatct	12	10	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:71756924C>T	uc003kce.1	-	2	586	c.400G>A	c.(400-402)GTG>ATG	p.V134M		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGGAAGCCCACGTTGCACAGG	0.607													T	71756924	C	T	71756924	3	4	23	1	0	0	0	0	1	0	0	0	17867	536	19	1	1850	1	ZNF366	5	71756924	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	741801	71756924	109158336	444	21038											
DMGDH	29958	broad.mit.edu	37	chr5	78324348	78324348	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacatcatcactaagatctTcagaggtcagtttctgaagg	8	8	6	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:78324348T>C	uc003kfs.2	-	12	1946	c.1940A>G	c.(1939-1941)GAA>GGA	p.E647G	DMGDH_uc011cte.1_Missense_Mutation_p.E497G|DMGDH_uc011ctf.1_Missense_Mutation_p.E446G|DMGDH_uc011ctg.1_Missense_Mutation_p.E267G	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	647					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		ACTAAGATCTTCAGAGGTCAG	0.388													C	78324348	T	C	78324348	3	2	23	1	0	0	0	0	1	0	0	0	4581	1783	62	3	680	3	DMGDH	5	78324348	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	6567424	78324348	102590912	445	21039											
ZFYVE16	9765	broad.mit.edu	37	chr5	79773189	79773189	+	Frame_Shift_Del	DEL	T	T	-													gtttttcattatagaacatcTtttttagtgaaagaatgtgc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:79773188_79773188CT>C	uc003kgr.4	+	18	4914	c.4612_4612CT>C	c.(4612-4614)cttfs	p.L1538fs	ZFYVE16_uc003kgq.4_Frame_Shift_Del_p.L1538fs|ZFYVE16_uc003kgs.4_Frame_Shift_Del_p.L1538fs|ZFYVE16_uc003kgt.4_Frame_Shift_Del_p.L626fs|ZFYVE16_uc003kgu.4_Frame_Shift_Del_p.L290fs	NM_001105251	NP_055548	Q7Z3T8	ZFY16_HUMAN	Homo sapiens zinc finger, FYVE domain containing 16 (ZFYVE16), transcript variant 2, mRNA.	1538					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TATAGAACATCTTTTTTAGTG	0.328													-	79773189	T	-	79773189	7	5	23	1	0	1	0	1	0	0	0	0	17661	1609	56	0	4679	0	ZFYVE16	5	79773189	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	1448841	79773189	101142071	446	21040											
EDIL3	10085	broad.mit.edu	37	chr5	83476311	83476311	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttatttcacaggttcctccAttatggcatggattaggagt	9	8	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:83476311A>G	uc003kio.1	-	4	674	c.255T>C	c.(253-255)AAT>AAC	p.N85N	EDIL3_uc003kip.1_Silent_p.N75N	NM_005711	NP_005702	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like	85	EGF-like 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			skin(2)	2		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		AGGTTCCTCCATTATGGCATG	0.393													G	83476311	A	G	83476311	2	3	23	1	0	0	0	0	0	0	0	1	4915	214	8	3		3	EDIL3	5	83476311	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	3703122	83476311	97438949	447	21041											
CETN3	1070	broad.mit.edu	37	chr5	89695208	89695208	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctttgtcaaattcttctaTcatagctcgaagttcttcat	4	9	7	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:89695208T>C	uc003kjo.2	-	4	552	c.427A>G	c.(427-429)ATA>GTA	p.I143V		NM_004365	NP_004356	O15182	CETN3_HUMAN	centrin 3	143	EF-hand 4.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding				0		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		AATTCTTCTATCATAGCTCGA	0.343													C	89695208	T	C	89695208	3	2	23	1	0	0	0	0	1	0	0	0	3276	1435	50	3	84	3	CETN3	5	89695208	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	6218897	89695208	91220052	448	21042											
MBLAC2	153364	broad.mit.edu	37	chr5	89757254	89757254	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcagtgatccatcatacacGacgtctccactgaagagaat	7	11	3	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:89757254G>A	uc003kjp.2	-	2	1046	c.570C>T	c.(568-570)GTC>GTT	p.V190V		NM_203406	NP_981951	Q68D91	MBLC2_HUMAN	beta-lactamase-like	190							hydrolase activity|metal ion binding				0						CATCATACACGACGTCTCCAC	0.463													A	89757254	G	A	89757254	2	1	23	1	0	0	0	0	0	0	0	1	9352	1045	37	1		1	MBLAC2	5	89757254	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	62046	89757254	91158006	449	21043											
GPR98	84059	broad.mit.edu	37	chr5	90052364	90052364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacaggacagccaagtgtgCggaggcccggaatggaaata	14	9	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:90052364C>T	uc003kju.2	+	56	11770	c.11674C>T	c.(11674-11676)CGG>TGG	p.R3892W	GPR98_uc003kjt.2_Missense_Mutation_p.R1598W|GPR98_uc003kjv.2_Missense_Mutation_p.R1492W	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3892	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCCAAGTGTGCGGAGGCCCGG	0.438													T	90052364	C	T	90052364	3	4	23	1	0	0	0	0	1	0	0	0	6721	759	27	1	11896	1	GPR98	5	90052364	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	295110	90052364	90862896	450	21044											
SPATA9	83890	broad.mit.edu	37	chr5	94994442	94994442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaatgtctggcttctccGgcaatgacctataaggtttt	9	9	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:94994442G>A	uc003klj.1	-	5	806	c.650C>T	c.(649-651)CCG>CTG	p.P217L	SPATA9_uc010jbh.1_Intron|SPATA9_uc003klh.1_RNA|SPATA9_uc003kli.1_RNA	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	217					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane					0		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		TGGCTTCTCCGGCAATGACCT	0.408													A	94994442	G	A	94994442	3	1	23	1	0	0	0	0	1	0	0	0	15015	1116	39	1	118	1	SPATA9	5	94994442	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	4942078	94994442	85920818	451	21045											
LNPEP	4012	broad.mit.edu	37	chr5	96328734	96328734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaggtttctatatatgctGtaccagaaaagattggtcaa	8	5	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:96328734G>A	uc003kmv.1	+	5	1661	c.1147G>A	c.(1147-1149)GTA>ATA	p.V383I	LNPEP_uc003kmw.1_Missense_Mutation_p.V369I	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	383	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TATATATGCTGTACCAGAAAA	0.343													A	96328734	G	A	96328734	3	1	23	1	0	0	0	0	1	0	0	0	8864	1377	48	4	1165	4	LNPEP	5	96328734	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1334292	96328734	84586526	452	21046											
ST8SIA4	7903	broad.mit.edu	37	chr5	100147699	100147699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataataatgatatttgaccGcttttccatttaaatcctta	3	8	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:100147699G>A	uc003knk.2	-	5	1260	c.932C>T	c.(931-933)GCG>GTG	p.A311V		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	311	Lumenal (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		ATATTTGACCGCTTTTCCATT	0.373													A	100147699	G	A	100147699	3	1	23	1	0	0	0	0	1	0	0	0	15233	1087	38	1	151	1	ST8SIA4	5	100147699	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3818965	100147699	80767561	453	21047											
SLCO4C1	353189	broad.mit.edu	37	chr5	101631748	101631748	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcgacagtgaccggagcttCtcttcggagacattgggagg	15	9	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:101631748C>T	uc003knm.2	-	1	506	c.219G>A	c.(217-219)GAG>GAA	p.E73E		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	73	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ACCGGAGCTTCTCTTCGGAGA	0.572													T	101631748	C	T	101631748	2	4	23	1	0	0	0	0	0	0	0	1	14730	912	32	4		4	SLCO4C1	5	101631748	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1484049	101631748	79283512	454	21048											
EPB41L4A	64097	broad.mit.edu	37	chr5	111576418	111576418	+	Frame_Shift_Del	DEL	A	A	-													atttttacatcaatttacctAaaaaatgtatgatgttccac							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:111576418delA	uc003kpv.1	-	10	1159	c.885delT	c.(883-885)TTTfs	p.F295fs		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	295	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CAATTTACCTAAAAAATGTAT	0.303													-	111576418	A	-	111576418	7	5	23	1	0	1	0	1	0	0	0	0	5155	359	13	0	1231	0	EPB41L4A	5	111576418	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	9944670	111576418	69338842	455	21049											
YTHDC2	64848	broad.mit.edu	37	chr5	112889545	112889545	+	Frame_Shift_Del	DEL	A	A	-													aacccacctgcaggtgttcgAaaaatagtaagcttcataaa							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:112889544_112889544GA>G	uc003kqn.3	+	14	2247	c.2045_2045GA>G	c.(2044-2046)cgafs	p.R682fs	YTHDC2_uc010jce.2_Frame_Shift_Del_p.R682fs|YTHDC2_uc010jcf.2_Frame_Shift_Del_p.R382fs	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	682	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GCAGGTGTTCGAAAAATAGTA	0.284													-	112889545	A	-	112889545	7	5	23	1	0	1	0	1	0	0	0	0	17494	233	9	0	2104	0	YTHDC2	5	112889545	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	1313127	112889545	68025715	456	21050											
SEMA6A	57556	broad.mit.edu	37	chr5	115813758	115813758	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccaaggggaacctttatcAcacaggtagagaacgcaaca	11	10	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:115813758A>G	uc010jck.2	-	14	2229	c.1520T>C	c.(1519-1521)GTG>GCG	p.V507A	SEMA6A_uc003krx.3_Missense_Mutation_p.V507A|SEMA6A_uc003krw.3_Missense_Mutation_p.V39A|SEMA6A_uc010jcj.2_Missense_Mutation_p.V51A	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	507	Sema.|Extracellular (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		AACCTTTATCACACAGGTAGA	0.448													G	115813758	A	G	115813758	3	3	23	1	0	0	0	0	1	0	0	0	14039	159	6	3	1596	3	SEMA6A	5	115813758	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	2924213	115813758	65101502	457	21051											
FTMT	94033	broad.mit.edu	37	chr5	121188033	121188033	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgggaggagaccgagcaCgcggagaagctgatgaggct	17	10	0	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:121188033C>T	uc003kss.2	+	1	384	c.375C>T	c.(373-375)CAC>CAT	p.H125H		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial precursor	125	Ferritin-like diiron.	Iron 1.			cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			ovary(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		AGACCGAGCACGCGGAGAAGC	0.587													T	121188033	C	T	121188033	2	4	23	1	0	0	0	0	0	0	0	1	6085	535	19	1		1	FTMT	5	121188033	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	5374275	121188033	59727227	458	21052											
GRAMD3	65983	broad.mit.edu	37	chr5	125759363	125759363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgctcgggaagagggagaGcaaacttggctcagcccagt	15	9	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:125759363G>A	uc003ktu.2	+	1	495	c.65G>A	c.(64-66)AGC>AAC	p.S22N	GRAMD3_uc011cwt.1_Intron|GRAMD3_uc011cwv.1_Missense_Mutation_p.A16T|GRAMD3_uc011cww.1_5'UTR|GRAMD3_uc011cwx.1_RNA|GRAMD3_uc011cwu.1_Intron	NM_023927	NP_076416	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3 isoform 2	22										central_nervous_system(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		AAGAGGGAGAGCAAACTTGGC	0.577													A	125759363	G	A	125759363	3	1	23	1	0	0	0	0	1	0	0	0	6751	971	34	2	199	2	GRAMD3	5	125759363	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	4571330	125759363	55155897	459	21053											
ADAMTS19	171019	broad.mit.edu	37	chr5	128984535	128984535	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatggtcccagaaaacaatAcagaatatgtgagaatccac	7	8	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:128984535A>G	uc003kvb.1	+	13	2030	c.2030A>G	c.(2029-2031)TAC>TGC	p.Y677C	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	677	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGAAAACAATACAGAATATGT	0.378													G	128984535	A	G	128984535	3	3	23	1	0	0	0	0	1	0	0	0	264	391	14	3	2080	3	ADAMTS19	5	128984535	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	3225172	128984535	51930725	460	21054											
C5orf56	441108	broad.mit.edu	37	chr5	131796357	131796357	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccccgtggagtacagccaTgctgtctgctgcttacagcc	10	14	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:131796357T>C	uc003kwy.1	+	4	323	c.192T>C	c.(190-192)CAT>CAC	p.H64H	C5orf56_uc003kwz.1_Intron|C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron	NM_001013717	NP_001013739	Q8N8D9	CE056_HUMAN	hypothetical protein LOC441108	64											0						agtacagccatgctgtctgct	0.05													C	131796357	T	C	131796357	2	2	23	1	0	0	0	0	0	0	0	1	2312	1461	51	3		3	C5orf56	5	131796357	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	2811822	131796357	49118903	461	21055											
C5orf56	441108	broad.mit.edu	37	chr5	131822135	131822135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagacatcgagcgccctcCgaccaaccctgcagcctgca	9	18	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:131822135C>T	uc010jds.1	+	4	471	c.296C>T	c.(295-297)CCG>CTG	p.P99L	IRF1_uc003kxd.2_Intron|IRF1_uc003kxa.2_Intron|IRF1_uc003kxb.2_Intron|IRF1_uc010jdt.1_Intron			Q8N8D9	CE056_HUMAN	Homo sapiens full length insert cDNA clone ZA99C08.	Error:Variant_position_missing_in_Q8N8D9_after_alignment											0						GAGCGCCCTCCGACCAACCCT	0.577													T	131822135	C	T	131822135	3	4	23	1	0	0	0	0	1	0	0	0	2312	667	23	1		1	C5orf56	5	131822135	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	25778	131822135	49093125	462	21056											
FSTL4	23105	broad.mit.edu	37	chr5	132560966	132560966	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactgctgatgtggagttcGctcccattggctgcagacag	12	11	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:132560966G>A	uc003kyn.1	-	10	1406	c.1188C>T	c.(1186-1188)AGC>AGT	p.S396S	FSTL4_uc003kym.1_Missense_Mutation_p.A3V	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4 precursor	396	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTGGAGTTCGCTCCCATTGG	0.532													A	132560966	G	A	132560966	2	1	23	1	0	0	0	0	0	0	0	1	6079	1078	38	1		1	FSTL4	5	132560966	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	738831	132560966	48354294	463	21057											
GFRA3	2676	broad.mit.edu	37	chr5	137593643	137593643	+	Splice_Site	DEL	G	G	-													tgaggcagaggtctgagtctGgggggaaagggcacggagtc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:137593642_137593642TG>T	uc003lcn.3	-	4	613	c.473_splice	c.e4-1	p.D158_splice	GFRA3_uc003lco.3_Splice_Site_p.D127_splice	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	158					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGTCTGAGTCTGGGGGGAAAG	0.617													-	137593643	G	-	137593643	8	5	23	1	0	1	0	1	0	0	1	0	6349	1363	47	0		0	GFRA3	5	137593643	Splice_Site	DEL	G	TCGA-BR-4368-01A-01D-1158-08	5032677	137593643	43321617	464	21058											
PSD2	84249	broad.mit.edu	37	chr5	139193088	139193088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcatccagcagcgggcccGtgacagccctgagccagggg	14	16	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:139193088G>A	uc003leu.1	+	3	771	c.566G>A	c.(565-567)CGT>CAT	p.R189H		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	189					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCGGGCCCGTGACAGCCCT	0.682													A	139193088	G	A	139193088	3	1	23	1	0	0	0	0	1	0	0	0	12647	1145	40	1	572	1	PSD2	5	139193088	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1599445	139193088	41722172	465	21059											
SLC35A4	113829	broad.mit.edu	37	chr5	139946788	139946788	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgggggtatgccaggcctgGgccgtcccaggcaggcccgc	17	14	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:139946788G>T	uc003lgg.1	+	3	762	c.34G>T	c.(34-36)GGC>TGC	p.G12C	APBB3_uc003lgc.1_5'Flank|APBB3_uc003lgd.1_5'Flank|APBB3_uc003lge.1_5'Flank|APBB3_uc003lgf.1_5'Flank|APBB3_uc010jfp.1_5'Flank|APBB3_uc011czi.1_5'Flank|APBB3_uc010jfr.1_5'Flank|SLC35A4_uc003lgh.1_Missense_Mutation_p.G12C	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	12						Golgi membrane|integral to membrane	sugar:hydrogen symporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGGCCTGGGCCGTCCCAG	0.607													T	139946788	G	T	139946788	3	4	23	1	0	0	0	0	1	0	0	0	14573	1232	43	5	36	5	SLC35A4	5	139946788	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	753700	139946788	40968472	466	21060											
DND1	373863	broad.mit.edu	37	chr5	140052887	140052887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccatacttcctctgcccGttcacctgcaccaggcggat	8	18	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140052887G>A	uc003lgt.2	-	2	155	c.111C>T	c.(109-111)AAC>AAT	p.N37N		NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	dead end homolog 1	37					multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTCTGCCCGTTCACCTGCA	0.667													A	140052887	G	A	140052887	2	1	23	1	0	0	0	0	0	0	0	1	4666	1136	40	1		1	DND1	5	140052887	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	106099	140052887	40862373	467	21061											
PCDHA1	56147	broad.mit.edu	37	chr5	140166202	140166202	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcatccacctggagttgatCgccgacaggccgctgcaggt	13	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140166202C>T	uc003lhb.2	+	1	327	c.327C>T	c.(325-327)ATC>ATT	p.I109I	PCDHA1_uc003lha.2_Silent_p.I109I|PCDHA1_uc003lgz.2_Silent_p.I109I	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	109	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGTTGATCGCCGACAGGC	0.498													T	140166202	C	T	140166202	2	4	23	1	0	0	0	0	0	0	0	1	11519	874	31	1		1	PCDHA1	5	140166202	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	113315	140166202	40749058	468	21062											
PCDHA2	56146	broad.mit.edu	37	chr5	140174554	140174554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattgaggattggtaatggCgtcttctatcagaaggggcc	13	7	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140174554C>T	uc003lhd.2	+	1	111	c.5C>T	c.(4-6)GCG>GTG	p.A2V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A2V|PCDHA2_uc011czy.1_Missense_Mutation_p.A2V	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	2					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGTAATGGCGTCTTCTATC	0.502													T	140174554	C	T	140174554	3	4	23	1	0	0	0	0	1	0	0	0	11524	768	27	1	7	1	PCDHA2	5	140174554	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	8352	140174554	40740706	469	21063											
PCDHA5	56143	broad.mit.edu	37	chr5	140202649	140202649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaccgcgcgggacggggGctcgccttcgctgtgggcca	19	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140202649G>A	uc003lhl.2	+	1	1289	c.1289G>A	c.(1288-1290)GGC>GAC	p.G430D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.G430D|PCDHA5_uc003lhj.1_Missense_Mutation_p.G430D	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	430	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGACGGGGGCTCGCCTTCG	0.647													A	140202649	G	A	140202649	3	1	23	1	0	0	0	0	1	0	0	0	11527	1203	42	2	1291	2	PCDHA5	5	140202649	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	28095	140202649	40712611	470	21064											
PCDHA7	56141	broad.mit.edu	37	chr5	140215225	140215225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaccgcgagagtgtgtcCgcctatgagctggtggttac	15	10	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140215225C>T	uc003lhq.2	+	1	1257	c.1257C>T	c.(1255-1257)TCC>TCT	p.S419S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.S419S	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	419	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGTGTGTCCGCCTATGAGC	0.627													T	140215225	C	T	140215225	2	4	23	1	0	0	0	0	0	0	0	1	11529	639	23	1		1	PCDHA7	5	140215225	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	12576	140215225	40700035	471	21065											
PCDHA7	56141	broad.mit.edu	37	chr5	140215333	140215333	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacgacaacgccccggcgttCgcgcagcccgagtatacggt	12	15	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140215333C>T	uc003lhq.2	+	1	1365	c.1365C>T	c.(1363-1365)TTC>TTT	p.F455F	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.F455F	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	455	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCGGCGTTCGCGCAGCCCG	0.677													T	140215333	C	T	140215333	2	4	23	1	0	0	0	0	0	0	0	1	11529	883	31	1		1	PCDHA7	5	140215333	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	108	140215333	40699927	472	21066											
PCDHAC2	56134	broad.mit.edu	37	chr5	140348144	140348144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagatggtgcctcgaactgCccctgctggctacctggtca	12	14	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140348144C>T	uc003lii.2	+	1	2033	c.1793C>T	c.(1792-1794)GCC>GTC	p.A598V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.A598V	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	598	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCGAACTGCCCCTGCTGGC	0.522													T	140348144	C	T	140348144	3	4	23	1	0	0	0	0	1	0	0	0	11533	739	26	2	1795	2	PCDHAC2	5	140348144	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	132811	140348144	40567116	473	21067											
PCDHB1	29930	broad.mit.edu	37	chr5	140431398	140431398	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtcctggtggagccgctgCagtccttccgggccgaggtc	15	13	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140431398C>T	uc003lik.1	+	1	420	c.343C>T	c.(343-345)CAG>TAG	p.Q115*		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	115	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCCGCTGCAGTCCTTCCG	0.507													T	140431398	C	T	140431398	4	4	23	1	0	0	0	0	0	1	0	0	11534	711	25	2	345	2	PCDHB1	5	140431398	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	83254	140431398	40483862	474	21068											
PCDHB1	29930	broad.mit.edu	37	chr5	140431483	140431483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagccgcttttaaagattcCggagagcacccctttgggtt	12	10	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140431483C>T	uc003lik.1	+	1	505	c.428C>T	c.(427-429)CCG>CTG	p.P143L		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	143	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAAAGATTCCGGAGAGCACC	0.552													T	140431483	C	T	140431483	3	4	23	1	0	0	0	0	1	0	0	0	11534	652	23	1	430	1	PCDHB1	5	140431483	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	85	140431483	40483777	475	21069											
PCDHB5	26167	broad.mit.edu	37	chr5	140515561	140515561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacactttcatgttgctaCgcataatcgcggagatggca	9	10	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140515561C>T	uc003liq.2	+	1	762	c.545C>T	c.(544-546)ACG>ATG	p.T182M		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	182	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATGTTGCTACGCATAATCGC	0.502													T	140515561	C	T	140515561	3	4	23	1	0	0	0	0	1	0	0	0	11545	536	19	1	547	1	PCDHB5	5	140515561	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	84078	140515561	40399699	476	21070											
PCDHB6	56130	broad.mit.edu	37	chr5	140531365	140531365	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatcaacgcggacaacggCcacctgtttgccctcaggtc	9	16	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140531365C>T	uc003lir.2	+	1	1527	c.1527C>T	c.(1525-1527)GGC>GGT	p.G509G	PCDHB6_uc011dah.1_Silent_p.G373G	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	509	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGACAACGGCCACCTGTTTG	0.672													T	140531365	C	T	140531365	2	4	23	1	0	0	0	0	0	0	0	1	11546	726	26	2		2	PCDHB6	5	140531365	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	15804	140531365	40383895	477	21071											
PCDHB8	56128	broad.mit.edu	37	chr5	140558115	140558115	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttagatataggccaaaacaAtattgagaactatataatca	5	6	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140558115A>G	uc011dai.1	+	1	686	c.500A>G	c.(499-501)AAT>AGT	p.N167S	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	167	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCAAAACAATATTGAGAAC	0.463													G	140558115	A	G	140558115	3	3	23	1	0	0	0	0	1	0	0	0	11548	101	4	3	502	3	PCDHB8	5	140558115	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	26750	140558115	40357145	478	21072											
PCDHB12	56124	broad.mit.edu	37	chr5	140588900	140588900	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggaaaaagaaatgctcttaGaaatcccagagaacagtcct	8	8	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140588900G>C	uc003liz.2	+	1	610	c.421G>C	c.(421-423)GAA>CAA	p.E141Q	PCDHB12_uc011dak.1_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	141	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGCTCTTAGAAATCCCAGA	0.393													C	140588900	G	C	140588900	3	2	23	1	0	0	0	0	1	0	0	0	11537	943	33	5	423	5	PCDHB12	5	140588900	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	30785	140588900	40326360	479	21073											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712592	140712592	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actatgcggacacactcatcAgccaggagagctgtgagaaa	11	10	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140712592A>G	uc003lji.1	+	1	2341	c.2341A>G	c.(2341-2343)AGC>GGC	p.S781G	PCDHGA1_uc011dan.1_Missense_Mutation_p.S781G	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	781	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACACTCATCAGCCAGGAGAG	0.498													G	140712592	A	G	140712592	3	3	23	1	0	0	0	0	1	0	0	0	11550	188	7	3	2343	3	PCDHGA1	5	140712592	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	123692	140712592	40202668	480	21074											
PCDHGB1	56104	broad.mit.edu	37	chr5	140731932	140731932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagtgctctttctcctcgCggtgattctagcgatcgccc	9	15	4	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140731932C>T	uc003ljo.1	+	1	2105	c.2105C>T	c.(2104-2106)GCG>GTG	p.A702V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA4_uc003ljq.1_5'Flank|PCDHGB1_uc011daq.1_Missense_Mutation_p.A702V|PCDHGA4_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	702	Helical; (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)			TTTCTCCTCGCGGTGATTCTA	0.617													T	140731932	C	T	140731932	3	4	23	1	0	0	0	0	1	0	0	0	11562	768	27	1	2107	1	PCDHGB1	5	140731932	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	19340	140731932	40183328	481	21075											
PCDHGA10	56106	broad.mit.edu	37	chr5	140794669	140794669	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctggacagagacgcgctcAagcaaagcctcgtagtggcc	13	12	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140794669A>G	uc003lkl.1	+	1	1927	c.1927A>G	c.(1927-1929)AAG>GAG	p.K643E	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.K643E|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	643	Cadherin 6.|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)			AGACGCGCTCAAGCAAAGCCT	0.697													G	140794669	A	G	140794669	3	3	23	1	0	0	0	0	1	0	0	0	11551	131	5	3	1929	3	PCDHGA10	5	140794669	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	62737	140794669	40120591	482	21076											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811073	140811073	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctcagcccgagtaccgcgcGagcgttccggagaatctggc	14	14	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140811073G>A	uc003lkt.1	+	1	916	c.747G>A	c.(745-747)GCG>GCA	p.A249A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.A249A	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	249	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTACCGCGCGAGCGTTCCGG	0.632													A	140811073	G	A	140811073	2	1	23	1	0	0	0	0	0	0	0	1	11553	1045	37	1		1	PCDHGA12	5	140811073	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	16404	140811073	40104187	483	21077											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812291	140812291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggccagccccctctctcCgccactgtcacgctcaccgt	7	22	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140812291C>T	uc003lkt.1	+	1	2134	c.1965C>T	c.(1963-1965)TCC>TCT	p.S655S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.S655S	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	655	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCTCTCTCCGCCACTGTCA	0.682													T	140812291	C	T	140812291	2	4	23	1	0	0	0	0	0	0	0	1	11553	639	23	1		1	PCDHGA12	5	140812291	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1218	140812291	40102969	484	21078											
PCDH12	51294	broad.mit.edu	37	chr5	141336748	141336748	+	Frame_Shift_Del	DEL	G	G	-													accaagctggtacctgacttGggggggttcccattgtcata							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:141336747_141336747TG>T	uc003llx.3	-	0	1881	c.670_670CA>A	c.(670-672)aagfs	p.K224fs		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	224	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTC	0.483													-	141336748	G	-	141336748	7	5	23	1	0	1	0	1	0	0	0	0	11510	1335	47	0	2901	0	PCDH12	5	141336748	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	524457	141336748	39578512	485	21079											
PRELID2	153768	broad.mit.edu	37	chr5	145199532	145199532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaaaatttctggaaccacGttctgacagattgcaatcct	6	10	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:145199532G>A	uc003lnp.1	-	3	236	c.183C>T	c.(181-183)AAC>AAT	p.N61N	PRELID2_uc003lnq.1_Silent_p.N61N|PRELID2_uc003lno.1_Silent_p.N32N|PRELID2_uc003lnr.1_Silent_p.N61N	NM_182960	NP_892005	Q8N945	PRLD2_HUMAN	PRELI domain containing 2 isoform a	61	PRELI/MSF1.										0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGAACCACGTTCTGACAGA	0.284													A	145199532	G	A	145199532	2	1	23	1	0	0	0	0	0	0	0	1	12472	1136	40	1		1	PRELID2	5	145199532	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3862784	145199532	35715728	486	21080											
DPYSL3	1809	broad.mit.edu	37	chr5	146788290	146788290	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcatcccctgtaacttaCctcttctggcctgctcagta	5	16	4	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:146788290C>T	uc003lon.1	-	7	800	c.690_splice	c.e7+1	p.E230_splice	DPYSL3_uc003loo.2_Splice_Site_p.E344_splice	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3						axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTAACTTACCTCTTCTGGC	0.433													T	146788290	C	T	146788290	5	4	23	1	0	0	0	0	0	0	1	0	4748	521	18	4	1053	4	DPYSL3	5	146788290	Splice_Site	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1588758	146788290	34126970	487	21081											
FBXO38	81545	broad.mit.edu	37	chr5	147813209	147813209	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgtaggttcttgtattAaaatccaagaatcttgttgg	9	5	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:147813209A>G	uc003lpf.1	+	17	2886	c.2766A>G	c.(2764-2766)TTA>TTG	p.L922L	FBXO38_uc003lpg.1_Silent_p.L847L|FBXO38_uc003lph.2_Silent_p.L677L	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	922						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTTGTATTAAAATCCAAGA	0.333													G	147813209	A	G	147813209	2	3	23	1	0	0	0	0	0	0	0	1	5746	359	13	3		3	FBXO38	5	147813209	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	1024919	147813209	33102051	488	21082											
ADRB2	154	broad.mit.edu	37	chr5	148206896	148206896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccttacctccttcttgCccattcagatgcactggtac	7	15	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:148206896C>T	uc003lpr.1	+	1	741	c.502C>T	c.(502-504)CCC>TCC	p.P168S	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	168	Helical; Name=4.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	CTCCTTCTTGCCCATTCAGAT	0.517													T	148206896	C	T	148206896	3	4	23	1	0	0	0	0	1	0	0	0	341	739	26	2	504	2	ADRB2	5	148206896	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	393687	148206896	32708364	489	21083											
FAT2	2196	broad.mit.edu	37	chr5	150931050	150931050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggcaatggtgcgggacCcatctgtcacctcaacagtc	12	12	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:150931050C>T	uc003lue.3	-	6	4287	c.4274G>A	c.(4273-4275)GGG>GAG	p.G1425E	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1425	Extracellular (Potential).|Cadherin 12.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGCGGGACCCATCTGTCAC	0.532													T	150931050	C	T	150931050	3	4	23	1	0	0	0	0	1	0	0	0	5690	623	22	4	8847	4	FAT2	5	150931050	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2724154	150931050	29984210	490	21084											
FAT2	2196	broad.mit.edu	37	chr5	150946645	150946645	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtttgagggatatcactccGgagaaatgatttagatcaaa	10	6	2	4	rs79269043	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:150946645G>A	uc003lue.3	-	1	1861	c.1848C>T	c.(1846-1848)TCC>TCT	p.S616S	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.S616S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	616	Extracellular (Potential).|Cadherin 5.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATATCACTCCGGAGAAATGAT	0.403													A	150946645	G	A	150946645	2	1	23	1	0	0	0	0	0	0	0	1	5690	1103	39	1		1	FAT2	5	150946645	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	15595	150946645	29968615	491	21085											
FAM71B	153745	broad.mit.edu	37	chr5	156590335	156590335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatttttgatagctgctcccGccagcgctgtggtcacttga	11	11	1	2	rs146575394		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:156590335G>A	uc003lwn.2	-	2	1041	c.941C>T	c.(940-942)GCG>GTG	p.A314V		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	314	Ala-rich.					nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGCTGCTCCCGCCAGCGCTGT	0.527													A	156590335	G	A	156590335	3	1	23	1	0	0	0	0	1	0	0	0	5608	1087	38	1	880	1	FAM71B	5	156590335	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	5643690	156590335	24324925	492	21086											
EBF1	1879	broad.mit.edu	37	chr5	158204430	158204430	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggttcttacctgtataaaTgaatctgcctggtgttcctt	9	8	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:158204430T>C	uc010jip.2	-	10	1329	c.1027A>G	c.(1027-1029)ATT>GTT	p.I343V	EBF1_uc011ddw.1_Missense_Mutation_p.I211V|EBF1_uc011ddx.1_Missense_Mutation_p.I344V|EBF1_uc003lxl.3_Missense_Mutation_p.I312V	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	343	IPT/TIG.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTGTATAAATGAATCTGCCT	0.473			T	HMGA2	lipoma								C	158204430	T	C	158204430	3	2	23	1	0	0	0	0	1	0	0	0	4880	1464	51	3	776	3	EBF1	5	158204430	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	1614095	158204430	22710830	493	21087											
RNF145	153830	broad.mit.edu	37	chr5	158596066	158596066	+	Splice_Site	DEL	A	A	-													actccttctgtcatgcccctAaaaaaagcatacattttcag							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:158596065_158596065TA>T	uc010jiq.2	-	8	1179	c.1029_splice	c.e8-1	p.R343_splice	RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	313						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATGCCCCTAAAAAAAGCA	0.363													-	158596066	A	-	158596066	8	5	23	1	0	1	0	1	0	0	1	0	13447	377	13	0		0	RNF145	5	158596066	Splice_Site	DEL	A	TCGA-BR-4368-01A-01D-1158-08	391636	158596066	22319194	494	21088											
GABRA6	2559	broad.mit.edu	37	chr5	161116284	161116284	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatcaatgctgactgtccCatgaggctggttaactttcc	8	12	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:161116284C>T	uc003lyu.2	+	5	809	c.471C>T	c.(469-471)CCC>CCT	p.P157P	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	157	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTGACTGTCCCATGAGGCTGG	0.413										TCGA Ovarian(5;0.080)			T	161116284	C	T	161116284	2	4	23	1	0	0	0	0	0	0	0	1	6165	581	21	4		4	GABRA6	5	161116284	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2520218	161116284	19798976	495	21089											
HMMR	3161	broad.mit.edu	37	chr5	162909718	162909718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcattacaggaaaaagcgGccaaggctgggaaaaatgca	11	8	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:162909718G>A	uc003lzf.2	+	13	1635	c.1453G>A	c.(1453-1455)GCC>ACC	p.A485T	HMMR_uc003lzh.2_Missense_Mutation_p.A486T|HMMR_uc003lzg.2_Missense_Mutation_p.A470T|HMMR_uc011dem.1_Missense_Mutation_p.A399T|uc003lzi.2_RNA	NM_012484	NP_036616	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor isoform b	485						cell surface|cytoplasm	hyaluronic acid binding				0	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		GGAAAAAGCGGCCAAGGCTGG	0.373													A	162909718	G	A	162909718	3	1	23	1	0	0	0	0	1	0	0	0	7242	1203	42	2	1506	2	HMMR	5	162909718	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1793434	162909718	18005542	496	21090											
WWC1	23286	broad.mit.edu	37	chr5	167850695	167850695	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagctggactcagagctgCagagcaaggtggagttcctg	15	9	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:167850695C>T	uc003lzu.2	+	11	1525	c.1432C>T	c.(1432-1434)CAG>TAG	p.Q478*	WWC1_uc003lzv.2_Nonsense_Mutation_p.Q478*|WWC1_uc011den.1_Nonsense_Mutation_p.Q478*|WWC1_uc003lzw.2_Nonsense_Mutation_p.Q277*	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	478					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CTCAGAGCTGCAGAGCAAGGT	0.622													T	167850695	C	T	167850695	4	4	23	1	0	0	0	0	0	1	0	0	17408	711	25	2	1474	2	WWC1	5	167850695	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	4940977	167850695	13064565	497	21091											
LCP2	3937	broad.mit.edu	37	chr5	169697783	169697783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggatggagttctgcagagCttcctcgtcattggagggtg	15	8	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:169697783C>T	uc003man.1	-	7	670	c.463G>A	c.(463-465)GCT>ACT	p.A155T	LCP2_uc011det.1_5'UTR|LCP2_uc010jjo.1_5'Flank	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	155					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TTCTGCAGAGCTTCCTCGTCA	0.577													T	169697783	C	T	169697783	3	4	23	1	0	0	0	0	1	0	0	0	8692	797	28	2	1198	2	LCP2	5	169697783	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1847088	169697783	11217477	498	21092											
STK10	6793	broad.mit.edu	37	chr5	171481591	171481591	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgcagctgctgcagctcGctcatgttgctctcacactg	9	15	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:171481591G>A	uc003mbo.1	-	17	2934	c.2634C>T	c.(2632-2634)AGC>AGT	p.S878S		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	878	Gln-rich.|Potential.						ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTGCAGCTCGCTCATGTTGC	0.627													A	171481591	G	A	171481591	2	1	23	1	0	0	0	0	0	0	0	1	15285	1078	38	1		1	STK10	5	171481591	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1783808	171481591	9433669	499	21093											
KIAA1191	57179	broad.mit.edu	37	chr5	175774604	175774604	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatccctggaaagagggctcTagaagccagtgggtgtgagc	15	8	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:175774604T>C	uc003mdw.2	-	9	1289	c.917A>G	c.(916-918)TAG>TGG	p.*306W	KIAA1191_uc003mdx.2_Nonstop_Mutation_p.*287W|KIAA1191_uc003mdy.2_Nonstop_Mutation_p.*306W|KIAA1191_uc003mea.2_Nonstop_Mutation_p.*99W|KIAA1191_uc003mdz.2_RNA	NM_020444	NP_065177	Q96A73	K1191_HUMAN	hypothetical protein LOC57179 isoform a	306							protein binding			ovary(1)	1	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		AAGAGGGCTCTAGAAGCCAGT	0.483													C	175774604	T	C	175774604	4	2	23	1	0	0	0	0	0	0	0	0	8212	1535	53	3	4	3	KIAA1191	5	175774604	Nonstop_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	4293013	175774604	5140656	500	21094											
EIF4E1B	253314	broad.mit.edu	37	chr5	176070674	176070674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcaagaatgaccgcagcCgggcctggcaggacaacctg	12	13	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:176070674C>T	uc010jkf.1	+	5	819	c.235C>T	c.(235-237)CGG>TGG	p.R79W		NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E	79					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity				0	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGACCGCAGCCGGGCCTGGCA	0.647													T	176070674	C	T	176070674	3	4	23	1	0	0	0	0	1	0	0	0	5029	643	23	1	245	1	EIF4E1B	5	176070674	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	296070	176070674	4844586	501	21095											
NSD1	64324	broad.mit.edu	37	chr5	176673695	176673695	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataggcactaccaagatattTgacaagccaaggaagcgaaa	9	8	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:176673695T>C	uc003mfr.3	+	10	4533	c.4395T>C	c.(4393-4395)TTT>TTC	p.F1465F	NSD1_uc003mft.3_Silent_p.F1196F|NSD1_uc003mfs.1_Silent_p.F1362F|NSD1_uc011dfx.1_Silent_p.F1113F	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1465					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCAAGATATTTGACAAGCCAA	0.398			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			C	176673695	T	C	176673695	2	2	23	1	0	0	0	0	0	0	0	1	10669	1809	63	3		3	NSD1	5	176673695	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	603021	176673695	4241565	502	21096											
ADAMTS2	9509	broad.mit.edu	37	chr5	178555066	178555066	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgacattcagtgagtcctcAtggatcatgtatttgtacgt	9	8	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:178555066A>G	uc003mjw.2	-	17	2511	c.2511T>C	c.(2509-2511)CAT>CAC	p.H837H		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	837	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTGAGTCCTCATGGATCATGT	0.572													G	178555066	A	G	178555066	2	3	23	1	0	0	0	0	0	0	0	1	265	214	8	3		3	ADAMTS2	5	178555066	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	1881371	178555066	2360194	503	21097											
GFPT2	9945	broad.mit.edu	37	chr5	179751867	179751867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagagcttgtatttgctccGgactccgatgagcagggggc	16	9	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:179751867G>A	uc003mlw.1	-	8	723	c.625C>T	c.(625-627)CGG>TGG	p.R209W		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	209	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			ovary(1)|skin(1)	2	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TATTTGCTCCGGACTCCGATG	0.547													A	179751867	G	A	179751867	3	1	23	1	0	0	0	0	1	0	0	0	6346	1115	39	1	1471	1	GFPT2	5	179751867	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1196801	179751867	1163393	504	21098											
MGAT1	4245	broad.mit.edu	37	chr5	180219105	180219105	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggccgccgcatccagtcGtcccagaaggcctttggcca	11	17	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:180219105G>A	uc003mmg.3	-	2	1362	c.867C>T	c.(865-867)GAC>GAT	p.D289D	MGAT1_uc010jlf.2_Silent_p.D289D|MGAT1_uc010jlg.2_Silent_p.D289D|MGAT1_uc003mmh.3_Silent_p.D289D|MGAT1_uc010jlh.2_Silent_p.D289D|MGAT1_uc003mmi.3_Silent_p.D289D	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	289	Lumenal (Potential).	Proton acceptor (Potential).			post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(1)	1	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCATCCAGTCGTCCCAGAAGG	0.662													A	180219105	G	A	180219105	2	1	23	1	0	0	0	0	0	0	0	1	9542	1136	40	1		1	MGAT1	5	180219105	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	467238	180219105	696155	505	21099											
DUSP22	56940	broad.mit.edu	37	chr6	348224	348224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcctgtgccaaccccaacGtgggcttccagagacagctc	10	15	0	1	rs140673019		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:348224G>A	uc003msx.2	+	6	824	c.385G>A	c.(385-387)GTG>ATG	p.V129M	DUSP22_uc011dhn.1_Missense_Mutation_p.V129M|DUSP22_uc003msy.1_Missense_Mutation_p.V86M	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	129	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CAACCCCAACGTGGGCTTCCA	0.572													A	348224	G	A	348224	3	1	23	1	0	0	0	0	1	0	0	0	4821	1145	40	1	407	1	DUSP22	6	348224	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08		348224	170766843	506	21100											
IRF4	3662	broad.mit.edu	37	chr6	397130	397130	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttcacaactacatgatgcCacccctcgaccgaagctgga	9	14	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:397130C>A	uc003msz.3	+	5	628	c.515C>A	c.(514-516)CCA>CAA	p.P172Q	IRF4_uc010jne.1_Missense_Mutation_p.P172Q|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.P171Q|IRF4_uc003mtc.1_Missense_Mutation_p.P2Q	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	172					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		TACATGATGCCACCCCTCGAC	0.582			T	IGH@	MM 								A	397130	C	A	397130	3	1	23	1	0	0	0	0	1	0	0	0	7832	594	21	5	529	5	IRF4	6	397130	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	48906	397130	170717937	507	21101											
NQO2	4835	broad.mit.edu	37	chr6	3012850	3012850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacaagcaaaggtctctggCtagcgacatcactgatgagc	10	11	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:3012850C>T	uc003mus.2	+	4	583	c.245C>T	c.(244-246)GCT>GTT	p.A82V	NQO2_uc003mup.1_Missense_Mutation_p.A82V|NQO2_uc003mut.2_Missense_Mutation_p.A82V	NM_000904	NP_000895	P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	82						cytoplasm|nucleus	coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity			ovary(1)	1	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Menadione(DB00170)|NADH(DB00157)	AGGTCTCTGGCTAGCGACATC	0.418													T	3012850	C	T	3012850	3	4	23	1	0	0	0	0	1	0	0	0	10612	797	28	2	255	2	NQO2	6	3012850	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2615720	3012850	168102217	508	21102											
TUBB2A	7280	broad.mit.edu	37	chr6	3154797	3154797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggtcagcttcagggtgCggaagcagatgtcatacagg	17	7	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:3154797C>T	uc003mvc.2	-	4	724	c.638G>A	c.(637-639)CGC>CAC	p.R213H	TUBB2A_uc003mvb.2_Missense_Mutation_p.R206H|TUBB2A_uc003mvd.2_Missense_Mutation_p.R176H	NM_001069	NP_001060	Q13885	TBB2A_HUMAN	tubulin, beta 2	213					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			skin(1)	1	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CTTCAGGGTGCGGAAGCAGAT	0.612													T	3154797	C	T	3154797	3	4	23	1	0	0	0	0	1	0	0	0	16751	768	27	1	703	1	TUBB2A	6	3154797	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	141947	3154797	167960270	509	21103											
PRPF4B	8899	broad.mit.edu	37	chr6	4052975	4052975	+	Frame_Shift_Del	DEL	A	A	-													atgaacttacgagaggtgttAaaaaaatatggtaaagatgt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:4052975delA	uc003mvv.2	+	11	2425	c.2334delA	c.(2332-2334)TTAfs	p.L778fs	PRPF4B_uc003mvw.2_RNA|C6orf146_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	778	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GAGAGGTGTTAAAAAAATATG	0.299													-	4052975	A	-	4052975	7	5	23	1	0	1	0	1	0	0	0	0	12573	359	13	0	2376	0	PRPF4B	6	4052975	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	898178	4052975	167062092	510	21104											
CDYL	9425	broad.mit.edu	37	chr6	4716061	4716061	+	Frame_Shift_Del	DEL	A	A	-													cctggggaaaaagcaggaagAaaaactggcaatacgagggc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:4716060_4716060GA>G	uc003mwi.3	+	1	179	c.48_48GA>G	c.(46-48)aagfs	p.K16fs		NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	Homo sapiens chromodomain protein, Y-like (CDYL), transcript variant 5, mRNA.	16					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AAAGCAGGAAGAAAAACTGGC	0.458													-	4716061	A	-	4716061	7	5	23	1	0	1	0	1	0	0	0	0	3185	261	9	0		0	CDYL	6	4716061	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	663086	4716061	166399006	511	21105											
RREB1	6239	broad.mit.edu	37	chr6	7182150	7182150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaacccctgtcccaatgacGtcaagttcgcccgctggctt	8	15	1	1	rs149124719		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:7182150G>A	uc003mxc.2	+	4	396	c.6G>A	c.(4-6)ACG>ACA	p.T2T	RREB1_uc010jnw.2_Silent_p.T2T|RREB1_uc003mxb.2_Silent_p.T2T|RREB1_uc010jnx.2_Silent_p.T2T|RREB1_uc003mxd.2_Silent_p.T2T	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	2					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TCCCAATGACGTCAAGTTCGC	0.478													A	7182150	G	A	7182150	2	1	23	1	0	0	0	0	0	0	0	1	13679	1132	40	1		1	RREB1	6	7182150	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2466089	7182150	163932917	512	21106											
TXNDC5	81567	broad.mit.edu	37	chr6	7889011	7889011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccgtcgctccagtctctGtgcgctgcagctgcgactcc	10	17	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:7889011G>A	uc003mxv.2	-	7	922	c.890C>T	c.(889-891)ACA>ATA	p.T297I	TXNDC5_uc003mxw.2_Missense_Mutation_p.T254I|TXNDC5_uc010jnz.2_Missense_Mutation_p.T189I|TXNDC5_uc010joa.1_Missense_Mutation_p.T189I	NM_030810	NP_110437	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 isoform 1	297					anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity				0	Ovarian(93;0.0398)					TCCAGTCTCTGTGCGCTGCAG	0.652													A	7889011	G	A	7889011	3	1	23	1	0	0	0	0	1	0	0	0	16796	1377	48	4	424	4	TXNDC5	6	7889011	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	706861	7889011	163226056	513	21107											
TFAP2A	7020	broad.mit.edu	37	chr6	10402804	10402804	+	Frame_Shift_Del	DEL	T	T	-													tttaatcctattttgtccagTttttctcttaaagatcttcc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:10402804delT	uc003myr.2	-	5	1056	c.804delA	c.(802-804)AAAfs	p.K268fs	TFAP2A_uc003myq.2_Frame_Shift_Del_p.K262fs|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Frame_Shift_Del_p.K268fs|TFAP2A_uc003myt.2_Frame_Shift_Del_p.K264fs|TFAP2A_uc003myu.1_Frame_Shift_Del_p.K268fs	NM_003220	NP_003211	P05549	AP2A_HUMAN	transcription factor AP-2 alpha isoform a	268					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			ovary(1)	1	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TTTTGTCCAGTTTTTCTCTTA	0.423													-	10402804	T	-	10402804	7	5	23	1	0	1	0	1	0	0	0	0	15784	1722	60	0	521	0	TFAP2A	6	10402804	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	2513793	10402804	160712263	514	21108											
HIST1H2AA	221613	broad.mit.edu	37	chr6	25726410	25726410	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtcttcttgggcagcaGcactgcctgaatgttaggca	11	11	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:25726410G>A	uc003nfc.2	-	1	381	c.346C>T	c.(346-348)CTG>TTG	p.L116L	HIST1H2BA_uc003nfd.2_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	116					nucleosome assembly	nucleosome|nucleus	DNA binding				0						TTGGGCAGCAGCACTGCCTGA	0.493													A	25726410	G	A	25726410	2	1	23	1	0	0	0	0	0	0	0	1	7128	962	34	2		2	HIST1H2AA	6	25726410	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	15323606	25726410	145388657	515	21109											
BTN2A1	11120	broad.mit.edu	37	chr6	26459819	26459819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgaggacatggaggtgCggtggttccggtctcagttc	16	8	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:26459819C>T	uc003nib.1	+	3	405	c.193C>T	c.(193-195)CGG>TGG	p.R65W	BTN2A1_uc003nic.1_Missense_Mutation_p.R65W|BTN2A1_uc003nid.1_5'UTR|BTN2A1_uc011dko.1_Missense_Mutation_p.R4W	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1 isoform 1	65	Extracellular (Potential).|Ig-like V-type.				lipid metabolic process	integral to plasma membrane				ovary(1)|skin(1)	2						CATGGAGGTGCGGTGGTTCCG	0.547													T	26459819	C	T	26459819	3	4	23	1	0	0	0	0	1	0	0	0	1560	759	27	1	199	1	BTN2A1	6	26459819	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	733409	26459819	144655248	516	21110											
HIST1H4I	8294	broad.mit.edu	37	chr6	27107305	27107305	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatccgggacgccgtgacctAcacggagcacgccaagcgca	13	15	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:27107305A>G	uc003niy.1	+	1	218	c.218A>G	c.(217-219)TAC>TGC	p.Y73C	HIST1H2BK_uc003nix.1_Intron	NM_003495	NP_003486	P62805	H4_HUMAN	histone cluster 1, H4i	73					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1						GCCGTGACCTACACGGAGCAC	0.642			T	BCL6	NHL								G	27107305	A	G	27107305	3	3	23	1	0	0	0	0	1	0	0	0	7173	391	14	3	220	3	HIST1H4I	6	27107305	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	647486	27107305	144007762	517	21111											
ZNF165	7718	broad.mit.edu	37	chr6	28056594	28056594	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatacagtcagaggtgaAataataagccacgatggatg	10	5	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:28056594A>G	uc003nkg.2	+	5	1888	c.804A>G	c.(802-804)GAA>GAG	p.E268E	ZNF165_uc003nkh.2_Silent_p.E268E|ZNF165_uc003nki.3_Silent_p.E268E|ZSCAN12P1_uc003nkj.3_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	268					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TCAGAGGTGAAATAATAAGCC	0.423													G	28056594	A	G	28056594	2	3	23	1	0	0	0	0	0	0	0	1	17737	11	1	3		3	ZNF165	6	28056594	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	949289	28056594	143058473	518	21112											
ZNF165	7718	broad.mit.edu	37	chr6	28057166	28057166	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaaccctatgaatgcaGtgagtgtggaagagccttca	11	7	1	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:28057166G>T	uc003nkg.2	+	5	2460	c.1376G>T	c.(1375-1377)AGT>ATT	p.S459I	ZNF165_uc003nkh.2_Missense_Mutation_p.S459I|ZNF165_uc003nki.3_Missense_Mutation_p.S459I|ZSCAN12P1_uc003nkj.3_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	459	C2H2-type 6.				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TATGAATGCAGTGAGTGTGGA	0.408													T	28057166	G	T	28057166	3	4	23	1	0	0	0	0	1	0	0	0	17737	1029	36	5	1386	5	ZNF165	6	28057166	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	572	28057166	143057901	519	21113											
RNF39	80352	broad.mit.edu	37	chr6	30043318	30043318	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggacacgtcgccagctgCtccagacgctccaccagccc	10	18	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:30043318C>T	uc003npe.2	-	1	311	c.249G>A	c.(247-249)GAG>GAA	p.E83E	RNF39_uc003npd.2_Silent_p.E83E	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	ring finger protein 39 isoform 1	83						cytoplasm	zinc ion binding				0						TCGCCAGCTGCTCCAGACGCT	0.716													T	30043318	C	T	30043318	2	4	23	1	0	0	0	0	0	0	0	1	13491	796	28	2		2	RNF39	6	30043318	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1986152	30043318	141071749	520	21114											
DPCR1	135656	broad.mit.edu	37	chr6	30919763	30919763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacacccagaaaagaccacGtcaaccacagagaaaaccac	6	14	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:30919763G>A	uc003nsg.2	+	2	3522	c.3522G>A	c.(3520-3522)ACG>ACA	p.T1174T		NM_080870	NP_543146	Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	305	Extracellular (Potential).|Thr-rich.					integral to membrane					0						AAAAGACCACGTCAACCACAG	0.468													A	30919763	G	A	30919763	2	1	23	1	0	0	0	0	0	0	0	1	4712	1132	40	1		1	DPCR1	6	30919763	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	876445	30919763	140195304	521	21115											
POU5F1	5460	broad.mit.edu	37	chr6	31132537	31132537	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagaggaaaggacactggTccccctgagaaaggagaccc	13	12	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:31132537T>C	uc003nsv.2	-	5	978	c.924A>G	c.(922-924)GGA>GGG	p.G308G	POU5F1_uc003nsu.2_Silent_p.G213G|uc011dnf.1_5'Flank	NM_002701	NP_002692	Q01860	PO5F1_HUMAN	POU domain, class 5, transcription factor 1	308					anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding		EWSR1/POU5F1(10)	skin(7)|salivary_gland(2)|bone(2)|lung(1)|ovary(1)	13						AGGACACTGGTCCCCCTGAGA	0.587			T	EWSR1	sarcoma								C	31132537	T	C	31132537	2	2	23	1	0	0	0	0	0	0	0	1	12281	1654	58	3		3	POU5F1	6	31132537	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	212774	31132537	139982530	522	21116											
LTA	4049	broad.mit.edu	37	chr6	31541350	31541350	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggaaccctggctgcactcGatgtaccacggggctgcgtt	13	13	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:31541350G>A	uc011dnu.1	+	4	711	c.498G>A	c.(496-498)TCG>TCA	p.S166S	LTA_uc003nue.1_Silent_p.S166S|LTA_uc003nuf.2_Intron|LTA_uc003nuh.2_Intron|LTA_uc003nug.2_Missense_Mutation_p.D76N|LTA_uc010jsr.2_RNA|TNF_uc003nui.2_5'Flank|TNF_uc003nuj.2_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	lymphotoxin alpha precursor	166					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding				0					Etanercept(DB00005)	GGCTGCACTCGATGTACCACG	0.592													A	31541350	G	A	31541350	2	1	23	1	0	0	0	0	0	0	0	1	9068	1045	37	1		1	LTA	6	31541350	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	408813	31541350	139573717	523	21117											
APOM	55937	broad.mit.edu	37	chr6	31624328	31624328	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagttggcaacttttgaccCtgtggacaacattgtcttca	10	9	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:31624328C>A	uc003nvl.2	+	2	267	c.194C>A	c.(193-195)CCT>CAT	p.P65H	APOM_uc003nvk.2_Translation_Start_Site	NM_019101	NP_061974	O95445	APOM_HUMAN	apolipoprotein M	65					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity				0						ACTTTTGACCCTGTGGACAAC	0.552													A	31624328	C	A	31624328	3	1	23	1	0	0	0	0	1	0	0	0	812	681	24	5	200	5	APOM	6	31624328	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	82978	31624328	139490739	524	21118											
C6orf47	57827	broad.mit.edu	37	chr6	31627258	31627258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttccccccgcagccagCccaacagcttctcacgccta	7	20	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:31627258C>T	uc003nvm.1	-	1	1292	c.467G>A	c.(466-468)GGC>GAC	p.G156D		NM_021184	NP_067007	O95873	CF047_HUMAN	G4 protein	156										ovary(1)	1						CCGCAGCCAGCCCAACAGCTT	0.647													T	31627258	C	T	31627258	3	4	23	1	0	0	0	0	1	0	0	0	2364	739	26	2	421	2	C6orf47	6	31627258	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2930	31627258	139487809	525	21119											
DDAH2	23564	broad.mit.edu	37	chr6	31696024	31696024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccatgccgcagagaccgcGcaggtgggagggacccgaga	16	14	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:31696024G>A	uc003nwp.2	-	4	1148	c.517C>T	c.(517-519)CGC>TGC	p.R173C	DDAH2_uc003nwq.2_Missense_Mutation_p.R173C	NM_013974	NP_039268	O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	173					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding				0					L-Citrulline(DB00155)	CAGAGACCGCGCAGGTGGGAG	0.667													A	31696024	G	A	31696024	3	1	23	1	0	0	0	0	1	0	0	0	4322	1087	38	1	352	1	DDAH2	6	31696024	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	68766	31696024	139419043	526	21120											
HSPA1L	3305	broad.mit.edu	37	chr6	31779156	31779156	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cctccacccagatcaaaaatCaggacatgtcgttctccttg	6	14	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:31779156C>G	uc003nxh.2	-	2	777	c.594G>C	c.(592-594)CTG>CTC	p.L198L	HSPA1L_uc010jte.2_Silent_p.L198L	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	198					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						GATCAAAAATCAGGACATGTC	0.468													G	31779156	C	G	31779156	2	3	23	1	0	0	0	0	0	0	0	1	7410	813	29	5		5	HSPA1L	6	31779156	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	83132	31779156	139335911	527	21121											
EHMT2	10919	broad.mit.edu	37	chr6	31856457	31856457	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttgggtgcctccatgcgGcagctgcacaggggcaactc	13	13	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:31856457G>A	uc003nxz.1	-	11	1294	c.1284C>T	c.(1282-1284)TGC>TGT	p.C428C	EHMT2_uc003nxy.1_Silent_p.C219C|EHMT2_uc011don.1_Silent_p.C451C|EHMT2_uc003nya.1_Silent_p.C394C	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	428					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						CCTCCATGCGGCAGCTGCACA	0.622													A	31856457	G	A	31856457	2	1	23	1	0	0	0	0	0	0	0	1	4984	1195	42	2		2	EHMT2	6	31856457	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	77301	31856457	139258610	528	21122											
SKIV2L	6499	broad.mit.edu	37	chr6	31936718	31936718	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggcgggtggcttgtgccaTgagcagccatgagttgctcc	16	10	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:31936718T>C	uc003nyn.1	+	26	3640	c.3251T>C	c.(3250-3252)ATG>ACG	p.M1084T	SKIV2L_uc011dou.1_Missense_Mutation_p.M926T|SKIV2L_uc011dov.1_Missense_Mutation_p.M891T|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	1084						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						GCTTGTGCCATGAGCAGCCAT	0.592													C	31936718	T	C	31936718	3	2	23	1	0	0	0	0	1	0	0	0	14359	1464	51	3	3353	3	SKIV2L	6	31936718	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	80261	31936718	139178349	529	21123											
C4A	720	broad.mit.edu	37	chr6	31997538	31997538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcggcctggctcacccGtcagggcagcttccaagggg	16	14	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:31997538G>A	uc011dpd.1	+	29	3923	c.3872G>A	c.(3871-3873)CGT>CAT	p.R1291H	C4A_uc011dpe.1_Missense_Mutation_p.R1291H	NM_007293	NP_009224	P0C0L4	CO4A_HUMAN	complement component 4A preproprotein	1291					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity				0						TGGCTCACCCGTCAGGGCAGC	0.647													A	31997538	G	A	31997538	3	1	23	1	0	0	0	0	1	0	0	0	2247	1145	40	1	8711	1	C4A	6	31997538	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	60820	31997538	139117529	530	21124											
TNXB	7148	broad.mit.edu	37	chr6	32023661	32023661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggacaccgggcccacacGccgcccctcgtggaggccgt	15	17	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:32023661G>A	uc003nzl.2	-	24	8636	c.8434C>T	c.(8434-8436)CGT>TGT	p.R2812C		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2870	Fibronectin type-III 20.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GGGCCCACACGCCGCCCCTCG	0.607													A	32023661	G	A	32023661	3	1	23	1	0	0	0	0	1	0	0	0	16343	1087	38	1	6363	1	TNXB	6	32023661	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	26123	32023661	139091406	531	21125											
PRRT1	80863	broad.mit.edu	37	chr6	32119591	32119591	+	Frame_Shift_Del	DEL	T	T	-													tgttattgtttttacctgacTtttcggatgacatgcctgcg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:32119590_32119590CT>C	uc003nzu.3	-	2	280	c.15_15AG>G	c.(13-15)aagfs	p.K5fs	PRRT1_uc003nzs.3_5'UTR|PRRT1_uc003nzt.3_Frame_Shift_Del_p.K5fs|PPT2_uc003nzw.3_5'Flank|PPT2_uc003nzx.3_5'Flank|PPT2_uc003nzz.3_5'Flank|PPT2_uc021yvl.1_5'Flank|EGFL8_uc003nzy.2_5'Flank|PPT2_uc010jtu.1_5'Flank			Q99946	PRRT1_HUMAN	Homo sapiens proline-rich transmembrane protein 1 (PRRT1), mRNA.	5					response to biotic stimulus	integral to membrane		p.E4G(1)		breast(2)|endometrium(1)|kidney(1)|lung(2)	6						TTTTACCTGACTTTTCGGATG	0.632													-	32119591	T	-	32119591	7	5	23	1	0	1	0	1	0	0	0	0	12609	1609	56	0	922	0	PRRT1	6	32119591	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	95930	32119591	138995476	532	21126											
RING1	6015	broad.mit.edu	37	chr6	33178996	33178996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacaacgatgagtggggggGaaggagagcccggggaggga	21	7	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:33178996G>A	uc003odk.2	+	5	711	c.517G>A	c.(517-519)GAA>AAA	p.E173K	RING1_uc011dqx.1_Missense_Mutation_p.E173K|RING1_uc003odl.2_Missense_Mutation_p.E144K	NM_002931	NP_002922	Q06587	RING1_HUMAN	ring finger protein 1	173	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GAGTGGGGGGGAAGGAGAGCC	0.627													A	33178996	G	A	33178996	3	1	23	1	0	0	0	0	1	0	0	0	13374	1175	41	4	531	4	RING1	6	33178996	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1059405	33178996	137936071	533	21127											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411215	33411215	+	Silent	SNP	C	C	T													tcccatcaccaccaccaccaCcatcaccaccaccgaggtgg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:33411215C>T	uc011dri.1	+	15	3081	c.2886C>T	c.(2884-2886)CAC>CAT	p.H962H	SYNGAP1_uc010juy.2_Silent_p.H933H|SYNGAP1_uc010juz.2_Silent_p.H674H	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	962					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						accaccaccaccatcaccacc	0.557													T	33411215	C	T	33411215	2	4	23	1	0	0	0	0	0	0	0	1	15444	506	18	4		4	SYNGAP1	6	33411215	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	232219	33411215	137703852	534	21128	74	2									
SYNGAP1	8831	broad.mit.edu	37	chr6	33411218	33411218	+	Silent	SNP	T	T	C													catcaccaccaccaccaccaTcaccaccaccgaggtggaga							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:33411218T>C	uc011dri.1	+	15	3084	c.2889T>C	c.(2887-2889)CAT>CAC	p.H963H	SYNGAP1_uc010juy.2_Silent_p.H934H|SYNGAP1_uc010juz.2_Silent_p.H675H	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	963					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						accaccaccatcaccaccacc	0.557													C	33411218	T	C	33411218	2	2	23	1	0	0	0	0	0	0	0	1	15444	1432	50	3		3	SYNGAP1	6	33411218	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	3	33411218	137703849	535	21129	74	2									
UHRF1BP1	54887	broad.mit.edu	37	chr6	34825969	34825969	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcccttgtcttctctgcGtcaggcatgattgccaccaa	9	14	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:34825969G>A	uc003oju.3	+	14	2070	c.1836G>A	c.(1834-1836)GCG>GCA	p.A612A	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	612										ovary(3)	3						TCTTCTCTGCGTCAGGCATGA	0.488													A	34825969	G	A	34825969	2	1	23	1	0	0	0	0	0	0	0	1	16965	1132	40	1		1	UHRF1BP1	6	34825969	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1414751	34825969	136289098	536	21130											
TAF11	6882	broad.mit.edu	37	chr6	34846381	34846381	+	Frame_Shift_Del	DEL	T	T	-													tttggtctagaagaagatgaTttttttgtgcttcgagttag					rs139408667		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:34846380_34846380AT>A	uc003ojw.1	-	4	708	c.623_623AT>T	c.(622-624)atcfs	p.I208fs	UHRF1BP1_uc010jvm.2_Intron|TAF11_uc011dsr.1_3'UTR	NM_005643	NP_005634	Q15544	TAF11_HUMAN	Homo sapiens TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa (TAF11), mRNA.	208					positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding	p.I208fs*>4(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						GAAGAAGATGATTTTTTTGTG	0.418													-	34846381	T	-	34846381	7	5	23	1	0	1	0	1	0	0	0	0	15512	1493	52	0	17	0	TAF11	6	34846381	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	20412	34846381	136268686	537	21131											
CLPS	1208	broad.mit.edu	37	chr6	35763018	35763018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctcacaggtcaggccacGctcacagggacacttgtagt	10	14	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:35763018G>A	uc003ole.1	-	3	281	c.244C>T	c.(244-246)CGT>TGT	p.R82C	CLPS_uc003olf.1_Missense_Mutation_p.R41C	NM_001832	NP_001823	P04118	COL_HUMAN	colipase preproprotein	82					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region					0						GTCAGGCCACGCTCACAGGGA	0.542													A	35763018	G	A	35763018	3	1	23	1	0	0	0	0	1	0	0	0	3553	1087	38	1	98	1	CLPS	6	35763018	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	916637	35763018	135352049	538	21132											
PPIL1	51645	broad.mit.edu	37	chr6	36823635	36823635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcacgtcgtccacagggCggtcctgggagtttgtttct	12	11	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:36823635C>T	uc003omu.2	-	4	707	c.455G>A	c.(454-456)CGC>CAC	p.R152H		NM_016059	NP_057143	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase-like 1	152	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1						GTCCACAGGGCGGTCCTGGGA	0.532													T	36823635	C	T	36823635	3	4	23	1	0	0	0	0	1	0	0	0	12326	768	27	1	49	1	PPIL1	6	36823635	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1060617	36823635	134291432	539	21133											
DNAH8	1769	broad.mit.edu	37	chr6	38941437	38941437	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacttatttttggatacagGgtggttgggtattactacaa	11	4	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:38941437G>T	uc003ooe.1	+	82	12475	c.11875G>T	c.(11875-11877)GGT>TGT	p.G3959C	DNAH8_uc003oog.1_Missense_Mutation_p.G408C	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TTGGATACAGGGTGGTTGGGT	0.338													T	38941437	G	T	38941437	3	4	23	1	0	0	0	0	1	0	0	0	4607	1246	43	5	12193	5	DNAH8	6	38941437	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2117802	38941437	132173630	540	21134											
DAAM2	23500	broad.mit.edu	37	chr6	39828752	39828752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaggctatgtttgcactgCcccctgagaagaaatggcag	13	9	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:39828752C>T	uc003oow.2	+	3	373	c.217C>T	c.(217-219)CCC>TCC	p.P73S	DAAM2_uc010jxc.2_Missense_Mutation_p.P73S|DAAM2_uc003oox.2_Missense_Mutation_p.P73S|DAAM2_uc003oov.3_Missense_Mutation_p.P73S|DAAM2_uc003ooy.3_Missense_Mutation_p.P73S	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	73	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					GTTTGCACTGCCCCCTGAGAA	0.488													T	39828752	C	T	39828752	3	4	23	1	0	0	0	0	1	0	0	0	4216	739	26	2	223	2	DAAM2	6	39828752	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	887315	39828752	131286315	541	21135											
DAAM2	23500	broad.mit.edu	37	chr6	39843178	39843178	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagattgtcctccaggAtgagcggggtgtggaccctg	15	11	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:39843178A>G	uc003oow.2	+	11	1391	c.1235A>G	c.(1234-1236)GAT>GGT	p.D412G	DAAM2_uc010jxc.2_Missense_Mutation_p.D412G|DAAM2_uc003oox.2_Missense_Mutation_p.D412G	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	412	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					GTCCTCCAGGATGAGCGGGGT	0.552													G	39843178	A	G	39843178	3	3	23	1	0	0	0	0	1	0	0	0	4216	333	12	3	1273	3	DAAM2	6	39843178	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	14426	39843178	131271889	542	21136											
DAAM2	23500	broad.mit.edu	37	chr6	39856508	39856508	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catcttgaagatggatgagcAggaggaccttgctaaggaca	13	7	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:39856508A>T	uc003oow.2	+	17	2270	c.2114A>T	c.(2113-2115)CAG>CTG	p.Q705L	DAAM2_uc003oox.2_Missense_Mutation_p.Q705L|uc003ooz.1_5'Flank	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	705	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					ATGGATGAGCAGGAGGACCTT	0.577													T	39856508	A	T	39856508	3	4	23	1	0	0	0	0	1	0	0	0	4216	188	7	5	2176	5	DAAM2	6	39856508	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	13330	39856508	131258559	543	21137											
TREML2	79865	broad.mit.edu	37	chr6	41162312	41162312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcattgctgggagacgcGgtcactgtctgggaccccat	14	12	2	1	rs141822677	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:41162312G>A	uc010jxm.1	-	3	815	c.636C>T	c.(634-636)ACC>ACT	p.T212T		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid	212	Extracellular (Potential).				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGGAGACGCGGTCACTGTCT	0.627													A	41162312	G	A	41162312	2	1	23	1	0	0	0	0	0	0	0	1	16470	1103	39	1		1	TREML2	6	41162312	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1305804	41162312	129952755	544	21138											
FOXP4	116113	broad.mit.edu	37	chr6	41557560	41557560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggcccacctgcacatgCggccctcggagcccaagccc	11	18	0	1	rs140387832		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:41557560C>T	uc003oql.2	+	10	1575	c.1117C>T	c.(1117-1119)CGG>TGG	p.R373W	FOXP4_uc003oqm.2_Missense_Mutation_p.R371W|FOXP4_uc003oqn.2_Missense_Mutation_p.R372W	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	forkhead box P4 isoform 1	373					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCTGCACATGCGGCCCTCGGA	0.692											OREG0004066	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	41557560	C	T	41557560	3	4	23	1	0	0	0	0	1	0	0	0	6029	759	27	1	1151	1	FOXP4	6	41557560	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	395248	41557560	129557507	545	21139											
BYSL	705	broad.mit.edu	37	chr6	41897948	41897948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtcatgtcagaggtgtcGggcttccctatgccccagct	11	13	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:41897948G>A	uc003orl.2	+	3	846	c.510G>A	c.(508-510)TCG>TCA	p.S170S		NM_004053	NP_004044	Q13895	BYST_HUMAN	bystin	170					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus					0	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGAGGTGTCGGGCTTCCCTA	0.592													A	41897948	G	A	41897948	2	1	23	1	0	0	0	0	0	0	0	1	1576	1103	39	1		1	BYSL	6	41897948	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	340388	41897948	129217119	546	21140											
KLHDC3	116138	broad.mit.edu	37	chr6	42986253	42986253	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcttggctggactgtccccCgactccagtgctgcctgagg	14	14	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:42986253C>A	uc003otl.2	+	6	861	c.692C>A	c.(691-693)CCG>CAG	p.P231Q	KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Missense_Mutation_p.P207Q|KLHDC3_uc003otn.2_Missense_Mutation_p.P115Q|KLHDC3_uc003oto.2_Missense_Mutation_p.P172Q	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	231	Kelch 4.				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			upper_aerodigestive_tract(1)	1			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GACTGTCCCCCGACTCCAGTG	0.577													A	42986253	C	A	42986253	3	1	23	1	0	0	0	0	1	0	0	0	8357	652	23	5	710	5	KLHDC3	6	42986253	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1088305	42986253	128128814	547	21141											
PTK7	5754	broad.mit.edu	37	chr6	43110015	43110015	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcaacatcaagcacacGgaggcccccctctatgtcgt	9	15	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:43110015G>A	uc003oub.1	+	13	2223	c.2025G>A	c.(2023-2025)ACG>ACA	p.T675T	PTK7_uc003ouc.1_Intron|PTK7_uc003oud.1_Silent_p.T635T|PTK7_uc003oue.1_Silent_p.T545T|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Silent_p.T683T|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	PTK7 protein tyrosine kinase 7 isoform a	675	Ig-like C2-type 7.|Extracellular (Potential).				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(2)|large_intestine(1)	3			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TCAAGCACACGGAGGCCCCCC	0.587													A	43110015	G	A	43110015	2	1	23	1	0	0	0	0	0	0	0	1	12765	1103	39	1		1	PTK7	6	43110015	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	123762	43110015	128005052	548	21142											
CUL9	23113	broad.mit.edu	37	chr6	43152098	43152098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggtgcccttagggcctcGgctgcaggcatatcctgaag	13	12	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:43152098G>A	uc003ouk.2	+	2	125	c.50G>A	c.(49-51)CGG>CAG	p.R17Q	CUL9_uc003ouj.1_Missense_Mutation_p.R17Q|CUL9_uc003oul.2_Missense_Mutation_p.R17Q|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	17					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						TTAGGGCCTCGGCTGCAGGCA	0.552													A	43152098	G	A	43152098	3	1	23	1	0	0	0	0	1	0	0	0	4061	1116	39	1	52	1	CUL9	6	43152098	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	42083	43152098	127962969	549	21143											
TDRD6	221400	broad.mit.edu	37	chr6	46657163	46657163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgggattaatctgaaccGtgtgtttggagtacagtcgt	13	5	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:46657163G>A	uc003oyj.2	+	1	1298	c.1298G>A	c.(1297-1299)CGT>CAT	p.R433H	TDRD6_uc010jze.2_Missense_Mutation_p.R427H	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	433					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			AATCTGAACCGTGTGTTTGGA	0.463													A	46657163	G	A	46657163	3	1	23	1	0	0	0	0	1	0	0	0	15731	1145	40	1	1300	1	TDRD6	6	46657163	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3505065	46657163	124457904	550	21144											
TDRD6	221400	broad.mit.edu	37	chr6	46657579	46657579	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatgtattcttagttgacCgaggcaattcggaaaatgtg	12	5	1	1	rs141346043		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:46657579C>T	uc003oyj.2	+	1	1714	c.1714C>T	c.(1714-1716)CGA>TGA	p.R572*	TDRD6_uc010jze.2_Nonsense_Mutation_p.R566*	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	572	Tudor 3.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			CTTAGTTGACCGAGGCAATTC	0.443													T	46657579	C	T	46657579	4	4	23	1	0	0	0	0	0	1	0	0	15731	644	23	1	1716	1	TDRD6	6	46657579	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	416	46657579	124457488	551	21145											
PKHD1	5314	broad.mit.edu	37	chr6	51890007	51890007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtctggcacacaacgtggCttgcattaaaaaaagttaca	8	8	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:51890007C>T	uc003pah.1	-	32	4877	c.4601G>A	c.(4600-4602)AGC>AAC	p.S1534N	PKHD1_uc003pai.2_Missense_Mutation_p.S1534N	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1534	Extracellular (Potential).|IPT/TIG 10.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CACAACGTGGCTTGCATTAAA	0.453													T	51890007	C	T	51890007	3	4	23	1	0	0	0	0	1	0	0	0	11971	797	28	2	7806	2	PKHD1	6	51890007	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	5232428	51890007	119225060	552	21146											
GCM1	8521	broad.mit.edu	37	chr6	52993662	52993662	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagctattaaatgtccactgTaactaccaggcaattggacg	8	9	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:52993662T>C	uc003pbp.2	-	6	862	c.653A>G	c.(652-654)TAC>TGC	p.Y218C		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	glial cells missing homolog a	218						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)	1	Lung NSC(77;0.0755)					ATGTCCACTGTAACTACCAGG	0.433													C	52993662	T	C	52993662	3	2	23	1	0	0	0	0	1	0	0	0	6297	1638	57	3	661	3	GCM1	6	52993662	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	1103655	52993662	118121405	553	21147											
TINAG	27283	broad.mit.edu	37	chr6	54208091	54208091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttataaatggcctggatggaCtcatggcccattggatcaaa	10	8	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:54208091C>T	uc003pcj.2	+	5	838	c.692C>T	c.(691-693)ACT>ATT	p.T231I	TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	231					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CCTGGATGGACTCATGGCCCA	0.373													T	54208091	C	T	54208091	3	4	23	1	0	0	0	0	1	0	0	0	15918	565	20	4	710	4	TINAG	6	54208091	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1214429	54208091	116906976	554	21148											
BMP5	653	broad.mit.edu	37	chr6	55620357	55620357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccacatgagcgtactaCcatatttctatattttttca	5	10	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:55620357C>T	uc003pcq.2	-	7	2051	c.1339G>A	c.(1339-1341)GTA>ATA	p.V447I	BMP5_uc011dxf.1_Missense_Mutation_p.V410I	NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	447					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAGCGTACTACCATATTTCTA	0.333													T	55620357	C	T	55620357	3	4	23	1	0	0	0	0	1	0	0	0	1463	507	18	4	29	4	BMP5	6	55620357	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1412266	55620357	115494710	555	21149											
COL21A1	81578	broad.mit.edu	37	chr6	55939064	55939064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaggctggcctggtgagCcattgcttcccattaaaccc	9	14	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:55939064C>T	uc003pcs.2	-	20	2163	c.1931G>A	c.(1930-1932)GGC>GAC	p.G644D	COL21A1_uc010jzz.2_Missense_Mutation_p.G29D|COL21A1_uc011dxg.1_Missense_Mutation_p.G29D|COL21A1_uc011dxh.1_Missense_Mutation_p.G29D|COL21A1_uc003pcr.2_Missense_Mutation_p.A2T	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	644	Collagen-like 3.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCCTGGTGAGCCATTGCTTCC	0.328													T	55939064	C	T	55939064	3	4	23	1	0	0	0	0	1	0	0	0	3680	739	26	2	986	2	COL21A1	6	55939064	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	318707	55939064	115176003	556	21150											
COL12A1	1303	broad.mit.edu	37	chr6	75898209	75898209	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	catggttcagtgaaggtgtgGaggcaatttgtttgagttct	14	4	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:75898209G>T	uc003phs.2	-	8	1032	c.866C>A	c.(865-867)TCC>TAC	p.S289Y	COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_5'UTR	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	289	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TGAAGGTGTGGAGGCAATTTG	0.408													T	75898209	G	T	75898209	3	4	23	1	0	0	0	0	1	0	0	0	3669	1174	41	5	8561	5	COL12A1	6	75898209	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	19959145	75898209	95216858	557	21151											
COX7A2	1347	broad.mit.edu	37	chr6	75950905	75950905	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagtacctggaacagttttTgcttctccggaactttattt	7	9	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:75950905T>C	uc003phv.1	-	2	170	c.95A>G	c.(94-96)CAA>CGA	p.Q32R		NM_001865	NP_001856	P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2	32						mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity				0						GAACAGTTTTTGCTTCTCCGG	0.338													C	75950905	T	C	75950905	3	2	23	1	0	0	0	0	1	0	0	0	3780	1812	63	3	168	3	COX7A2	6	75950905	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	52696	75950905	95164162	558	21152											
HTR1B	3351	broad.mit.edu	37	chr6	78172363	78172363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtcggttatcagctgggctCgggtcaagcgcttgccggtc	15	11	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:78172363C>T	uc003pil.1	-	1	758	c.758G>A	c.(757-759)CGA>CAA	p.R253Q		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	253	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	CAGCTGGGCTCGGGTCAAGCG	0.617													T	78172363	C	T	78172363	3	4	23	1	0	0	0	0	1	0	0	0	7437	884	31	1	418	1	HTR1B	6	78172363	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2221458	78172363	92942704	559	21153											
IBTK	25998	broad.mit.edu	37	chr6	82891643	82891644	+	Frame_Shift_Ins	INS	-	-	T													caattcctttaaaagaaactINStttttgacatgatcgcctga							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:82891642_82891643C>CT	uc003pjl.1	-	25	4205_4206	c.3678_3679G>AG	c.(3676-3681)aaagttfs	p.K1226fs	IBTK_uc011dyu.1_Frame_Shift_Ins_p.K177fs|IBTK_uc011dyv.1_Frame_Shift_Ins_p.K1211fs|IBTK_uc011dyw.1_Frame_Shift_Ins_p.K1025fs|IBTK_uc010kbi.1_Frame_Shift_Ins_p.K920fs	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	1226					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TTAAAAGAAACTTTTTTGACAT	0.322													T	82891644	-	T	82891643	7	5	23	1	0	1	1	0	0	0	0	0	7476	1606	56	0	399	0	IBTK	6	82891643	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	4719280	82891643	88223424	560	21154											
DOPEY1	23033	broad.mit.edu	37	chr6	83839167	83839167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctagagtgctcaagtttcCcagtttacattgctgagggg	11	9	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:83839167C>T	uc003pjs.1	+	16	2541	c.2281C>T	c.(2281-2283)CCA>TCA	p.P761S	DOPEY1_uc011dyy.1_Missense_Mutation_p.P752S|DOPEY1_uc010kbl.1_Missense_Mutation_p.P752S	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	761					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTCAAGTTTCCCAGTTTACAT	0.383													T	83839167	C	T	83839167	3	4	23	1	0	0	0	0	1	0	0	0	4707	623	22	4	2335	4	DOPEY1	6	83839167	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	947524	83839167	87275900	561	21155											
PM20D2	135293	broad.mit.edu	37	chr6	89871861	89871861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagttctacactctgcggaCggccaaagctctggcaatga	10	12	4	1	rs147495131	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:89871861C>T	uc003pmz.2	+	7	1285	c.1190C>T	c.(1189-1191)ACG>ATG	p.T397M		NM_001010853	NP_001010853	Q8IYS1	P20D2_HUMAN	aminoacylase 1-like 2	397							hydrolase activity				0		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		ACTCTGCGGACGGCCAAAGCT	0.398													T	89871861	C	T	89871861	3	4	23	1	0	0	0	0	1	0	0	0	12129	536	19	1	1216	1	PM20D2	6	89871861	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	6032694	89871861	81243206	562	21156											
ASCC3	10973	broad.mit.edu	37	chr6	101053555	101053555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaactgcggcctcccagcaCgccccatcatctggaggaca	10	17	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:101053555C>T	uc003pqk.2	-	33	5395	c.5066G>A	c.(5065-5067)CGT>CAT	p.R1689H		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1689	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CCTCCCAGCACGCCCCATCAT	0.383													T	101053555	C	T	101053555	3	4	23	1	0	0	0	0	1	0	0	0	1033	536	19	1	1582	1	ASCC3	6	101053555	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	11181694	101053555	70061512	563	21157											
ASCC3	10973	broad.mit.edu	37	chr6	101127558	101127558	+	Frame_Shift_Del	DEL	T	T	-													agaagggaatatggccacaaTtttttgctctttctattaga							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:101127557_101127557AT>A	uc003pqk.3	-	13	2552	c.2223_2223AT>T	c.(2221-2223)aatfs	p.N741fs	ASCC3_uc011eai.1_Frame_Shift_Del_p.N643fs	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	741	Helicase C-terminal 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TATGGCCACAATTTTTTGCTC	0.363													-	101127558	T	-	101127558	7	5	23	1	0	1	0	1	0	0	0	0	1033	1493	52	0	4502	0	ASCC3	6	101127558	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	74003	101127558	69987509	564	21158											
GRIK2	2898	broad.mit.edu	37	chr6	102503432	102503433	+	Frame_Shift_Ins	INS	-	-	A													agaatttttatacaaatccaINSaaaaaaacgctcaattggaa							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:102503431_102503432C>CA	uc003pqp.4	+	14	2831_2832	c.2538_2539C>CA	c.(2536-2541)tccaaafs	p.S846fs	GRIK2_uc010kcw.3_Frame_Shift_Ins_p.S846fs|GRIK2_uc003pqo.4_Frame_Shift_Ins_p.S846fs|GRIK2_uc021zdk.1_Frame_Shift_Ins_p.S659fs|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	846					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.N849fs*12(1)|p.N849fs*14(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TATACAAATCCAAAAAAAACGC	0.351													A	102503433	-	A	102503432	7	5	23	1	0	1	1	0	0	0	0	0	6774	131	5	0	2597	0	GRIK2	6	102503432	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	1375874	102503432	68611635	565	21159											
PREP	5550	broad.mit.edu	37	chr6	105726144	105726144	+	Frame_Shift_Del	DEL	G	G	-													ggtgtccacgtggataagcaGggggttgctttgcttcctgc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:105726143_105726143AG>A	uc003prc.3	-	14	2242	c.2009_2009CT>T	c.(2008-2010)ctgfs	p.L670fs		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	670					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GTGGATAAGCAGGGGGTTGCT	0.597													-	105726144	G	-	105726144	7	5	23	1	0	1	0	1	0	0	0	0	12474	991	35	0	128	0	PREP	6	105726144	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	3222712	105726144	65388923	566	21160											
ATG5	9474	broad.mit.edu	37	chr6	106634539	106634539	+	Frame_Shift_Del	DEL	T	T	-													catgaatcatcacttgattcTttttttccccatctattcca							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:106634538_106634538CT>C	uc003prf.3	-	7	1058	c.705_705AG>G	c.(703-705)aagfs	p.K235fs	ATG5_uc010kdb.3_3'UTR|ATG5_uc003prg.3_Frame_Shift_Del_p.K157fs|ATG5_uc010kdc.3_3'UTR	NM_004849	NP_004840	Q9H1Y0	ATG5_HUMAN	Homo sapiens ATG5 autophagy related 5 homolog (S. cerevisiae) (ATG5), mRNA.	235					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		TCACTTGATTCTTTTTTTCCC	0.368													-	106634539	T	-	106634539	7	5	23	1	0	1	0	1	0	0	0	0	1100	1609	56	0	127	0	ATG5	6	106634539	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	908395	106634539	64480528	567	21161											
BEND3	57673	broad.mit.edu	37	chr6	107392009	107392009	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgagatgccatacagaggcTtcttgtaggaaggggtggtg	17	6	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:107392009T>C	uc003prs.2	-	5	1036	c.386A>G	c.(385-387)AAG>AGG	p.K129R		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	129										ovary(3)	3						ATACAGAGGCTTCTTGTAGGA	0.587													C	107392009	T	C	107392009	3	2	23	1	0	0	0	0	1	0	0	0	1399	1609	56	3	2104	3	BEND3	6	107392009	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	757470	107392009	63723058	568	21162											
WASF1	8936	broad.mit.edu	37	chr6	110423044	110423044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggtggtgggggtggaggCagcccctgaacttcaccttg	18	10	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:110423044C>T	uc003ptv.1	-	10	2106	c.1269G>A	c.(1267-1269)CTG>CTA	p.L423L	WASF1_uc003ptw.1_Silent_p.L423L|WASF1_uc003ptx.1_Silent_p.L423L|WASF1_uc003pty.1_Silent_p.L423L	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Wiskott-Aldrich syndrome protein family member	423					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding				0		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GGGGTGGAGGCAGCCCCTGAA	0.577													T	110423044	C	T	110423044	2	4	23	1	0	0	0	0	0	0	0	1	17249	697	25	2		2	WASF1	6	110423044	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3031035	110423044	60692023	569	21163											
ZUFSP	221302	broad.mit.edu	37	chr6	116966982	116966982	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgagactgctagcctcTatgtcttgctttaataattt	7	8	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:116966982T>C	uc003pxf.1	-	9	1830	c.1584A>G	c.(1582-1584)ATA>ATG	p.I528M	ZUFSP_uc010kef.1_Missense_Mutation_p.I332M	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	528						intracellular	zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TGCTAGCCTCTATGTCTTGCT	0.368													C	116966982	T	C	116966982	3	2	23	1	0	0	0	0	1	0	0	0	18243	1512	53	3	160	3	ZUFSP	6	116966982	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	6543938	116966982	54148085	570	21164											
ZUFSP	221302	broad.mit.edu	37	chr6	116987852	116987852	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttttcacatgagtttccatAtcttcactgtgctcctctat	5	11	4	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:116987852A>G	uc003pxf.1	-	2	750	c.504T>C	c.(502-504)GAT>GAC	p.D168D	ZUFSP_uc010kef.1_Intron	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	168	C2H2-type 2.					intracellular	zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		GAGTTTCCATATCTTCACTGT	0.353													G	116987852	A	G	116987852	2	3	23	1	0	0	0	0	0	0	0	1	18243	446	16	3		3	ZUFSP	6	116987852	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	20870	116987852	54127215	571	21165											
FAM184A	79632	broad.mit.edu	37	chr6	119297156	119297156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgatgatgattatgccGtaacaaatcaattgcagctg	8	7	2	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:119297156G>A	uc003pyj.2	-	12	2857	c.2509C>T	c.(2509-2511)CGG>TGG	p.R837W	FAM184A_uc003pyk.3_Missense_Mutation_p.R717W|FAM184A_uc003pyl.3_Missense_Mutation_p.R717W|FAM184A_uc003pyi.2_RNA	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	837										ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						TGATTATGCCGTAACAAATCA	0.378													A	119297156	G	A	119297156	3	1	23	1	0	0	0	0	1	0	0	0	5511	1144	40	1	941	1	FAM184A	6	119297156	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2309304	119297156	51817911	572	21166											
LAMA2	3908	broad.mit.edu	37	chr6	129663524	129663524	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggtgacttctgtgaaCgatgtgctcttggatactat	11	8	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:129663524C>T	uc003qbn.2	+	30	4453	c.4348C>T	c.(4348-4350)CGA>TGA	p.R1450*	LAMA2_uc003qbo.2_Nonsense_Mutation_p.R1450*	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1450	Laminin EGF-like 15.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTTCTGTGAACGATGTGCTCT	0.378													T	129663524	C	T	129663524	4	4	23	1	0	0	0	0	0	1	0	0	8606	528	19	1	4466	1	LAMA2	6	129663524	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	10366368	129663524	41451543	573	21167											
TAAR6	319100	broad.mit.edu	37	chr6	132891518	132891518	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctacgcgaacgtgaatGggtcctgtgtgaaaatcccc	12	10	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:132891518G>T	uc011eck.1	+	1	58	c.58G>T	c.(58-60)GGG>TGG	p.G20W		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	20	Extracellular (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(1)	3	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GAACGTGAATGGGTCCTGTGT	0.502													T	132891518	G	T	132891518	3	4	23	1	0	0	0	0	1	0	0	0	15489	1348	47	5	60	5	TAAR6	6	132891518	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3227994	132891518	38223549	574	21168											
HEBP2	23593	broad.mit.edu	37	chr6	138727269	138727269	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcttcattgaagatagagccGaaatgactgtgtttgtacgg	11	6	2	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:138727269G>T	uc003qhw.1	+	3	697	c.400G>T	c.(400-402)GAA>TAA	p.E134*		NM_014320	NP_055135	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	134						mitochondrion					0	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		AGATAGAGCCGAAATGACTGT	0.413													T	138727269	G	T	138727269	4	4	23	1	0	0	0	0	0	1	0	0	7037	1059	37	5	410	5	HEBP2	6	138727269	Nonsense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	5835751	138727269	32387798	575	21169											
FUCA2	2519	broad.mit.edu	37	chr6	143825243	143825243	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaggaagagcggatgaaAccattcaaaaagggaatagt	11	6	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:143825243A>G	uc003qjm.2	-	3	651	c.559T>C	c.(559-561)TTT>CTT	p.F187L	FUCA2_uc003qjn.2_5'Flank	NM_032020	NP_114409	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma precursor	187					fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		AGCGGATGAAACCATTCAAAA	0.443													G	143825243	A	G	143825243	3	3	23	1	0	0	0	0	1	0	0	0	6095	43	2	3	864	3	FUCA2	6	143825243	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	5097974	143825243	27289824	576	21170											
PHACTR2	9749	broad.mit.edu	37	chr6	144086414	144086415	+	Frame_Shift_Ins	INS	-	-	A													tagctggctcctctcattcaINSaaaaaaacaactggctctaa							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:144086413_144086414C>CA	uc010khi.3	+	5	909_910	c.710_711C>CA	c.(709-711)tcafs	p.S237fs	PHACTR2_uc003qjq.4_Frame_Shift_Ins_p.S226fs|PHACTR2_uc010khh.3_Frame_Shift_Ins_p.S146fs|PHACTR2_uc003qjr.4_Frame_Shift_Ins_p.S157fs	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	226							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TCCTCTCATTCAAAAAAAACAA	0.396													A	144086415	-	A	144086414	7	5	23	1	0	1	1	0	0	0	0	0	11810	117	5	0	750	0	PHACTR2	6	144086414	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	261171	144086414	27028653	577	21171											
GRM1	2911	broad.mit.edu	37	chr6	146720745	146720745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccacctctgatgttgtccGcatgcatgttggcgatggca	11	12	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:146720745G>A	uc010khw.1	+	8	3040	c.2570G>A	c.(2569-2571)CGC>CAC	p.R857H	GRM1_uc010khv.1_Missense_Mutation_p.R857H|GRM1_uc003qll.2_Missense_Mutation_p.R857H|GRM1_uc011edz.1_Missense_Mutation_p.R857H|GRM1_uc011eea.1_Missense_Mutation_p.R857H	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	857	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GATGTTGTCCGCATGCATGTT	0.532													A	146720745	G	A	146720745	3	1	23	1	0	0	0	0	1	0	0	0	6796	1087	38	1	2596	1	GRM1	6	146720745	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2634331	146720745	24394322	578	21172											
SYNE1	23345	broad.mit.edu	37	chr6	152777037	152777037	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacctgaaaagcaacatgaAtatctgcaatctgtctttgt	6	8	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:152777037A>G	uc010kiw.2	-	23	3313	c.2711T>C	c.(2710-2712)ATT>ACT	p.I904T	SYNE1_uc003qot.3_Missense_Mutation_p.I911T|SYNE1_uc003qou.3_Missense_Mutation_p.I904T|SYNE1_uc010kjb.1_Missense_Mutation_p.I887T|SYNE1_uc003qow.2_Missense_Mutation_p.I199T|SYNE1_uc003qox.1_Missense_Mutation_p.I420T|SYNE1_uc003qoz.2_Missense_Mutation_p.I336T|SYNE1_uc003qoy.2_Missense_Mutation_p.I471T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	904	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)		AGCAACATGAATATCTGCAAT	0.423										HNSCC(10;0.0054)			G	152777037	A	G	152777037	3	3	23	1	0	0	0	0	1	0	0	0	15442	101	4	3	24251	3	SYNE1	6	152777037	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	6056292	152777037	18338030	579	21173											
TIAM2	26230	broad.mit.edu	37	chr6	155450812	155450812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcattgcctccaccccacCgggcgaagaccgcaagagcc	11	17	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:155450812C>T	uc003qqb.2	+	6	1728	c.455C>T	c.(454-456)CCG>CTG	p.P152L	TIAM2_uc003qqe.2_Missense_Mutation_p.P152L	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	152					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)		TCCACCCCACCGGGCGAAGAC	0.577													T	155450812	C	T	155450812	3	4	23	1	0	0	0	0	1	0	0	0	15888	652	23	1	457	1	TIAM2	6	155450812	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2673775	155450812	15664255	580	21174											
ARID1B	57492	broad.mit.edu	37	chr6	157522469	157522469	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgccgtctatgaagatgCagaaggtcatgcccacggtc	11	11	3	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:157522469C>T	uc003qqn.2	+	18	4839	c.4687C>T	c.(4687-4689)CAG>TAG	p.Q1563*	ARID1B_uc003qqo.2_Nonsense_Mutation_p.Q1523*|ARID1B_uc003qqp.2_Nonsense_Mutation_p.Q1510*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1568	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TATGAAGATGCAGAAGGTCAT	0.592													T	157522469	C	T	157522469	4	4	23	1	0	0	0	0	0	1	0	0	914	711	25	2	4811	2	ARID1B	6	157522469	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2071657	157522469	13592598	581	21175											
SYNJ2	8871	broad.mit.edu	37	chr6	158483059	158483059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgccacgcgggcgacacGcctatgatcaattttgactt	9	12	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:158483059G>A	uc003qqx.1	+	8	1065	c.990G>A	c.(988-990)ACG>ACA	p.T330T	SYNJ2_uc011efm.1_Intron|SYNJ2_uc003qqw.1_Silent_p.T330T|SYNJ2_uc003qqy.1_Silent_p.T43T|SYNJ2_uc011efn.1_Intron|SYNJ2_uc010kjo.1_Silent_p.T279T|SYNJ2_uc003qqz.1_5'UTR	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	330	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CGGGCGACACGCCTATGATCA	0.383													A	158483059	G	A	158483059	2	1	23	1	0	0	0	0	0	0	0	1	15450	1074	38	1		1	SYNJ2	6	158483059	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	960590	158483059	12632008	582	21176											
SLC22A2	6582	broad.mit.edu	37	chr6	160679392	160679392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttacctcggtgacgatggacGagccaggcgtctcgtacacc	12	13	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:160679392G>A	uc003qtf.2	-	1	568	c.398C>T	c.(397-399)TCG>TTG	p.S133L	SLC22A2_uc003qte.1_Missense_Mutation_p.S133L|SLC22A2_uc003qth.1_Missense_Mutation_p.S133L	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	133	Extracellular (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)|skin(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GACGATGGACGAGCCAGGCGT	0.627													A	160679392	G	A	160679392	3	1	23	1	0	0	0	0	1	0	0	0	14450	1059	37	1	1313	1	SLC22A2	6	160679392	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2196333	160679392	10435675	583	21177											
AGPAT4	56895	broad.mit.edu	37	chr6	161574397	161574397	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctacatttctcaagctcctCacggtgatggcgaagccctt	8	14	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:161574397C>T	uc003qtr.1	-	5	872	c.645G>A	c.(643-645)GTG>GTA	p.V215V	AGPAT4_uc003qts.1_Silent_p.V75V|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_RNA|AGPAT4_uc011egc.1_3'UTR|AGPAT4_uc011egd.1_3'UTR|AGPAT4_uc011ege.1_3'UTR	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	215					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding				0		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		TCAAGCTCCTCACGGTGATGG	0.612											OREG0017775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	161574397	C	T	161574397	2	4	23	1	0	0	0	0	0	0	0	1	389	813	29	4		4	AGPAT4	6	161574397	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	895005	161574397	9540670	584	21178											
GPR146	115330	broad.mit.edu	37	chr7	1098028	1098028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccagcagctttgtgacaCcacttctctaccgctacatg	6	15	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:1098028C>T	uc003sjw.2	+	2	953	c.877C>T	c.(877-879)CCA>TCA	p.P293S	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjx.3_Missense_Mutation_p.P293S|GPR146_uc003sjy.1_Missense_Mutation_p.P293S	NM_138445	NP_612454	Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	293	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CTTTGTGACACCACTTCTCTA	0.582													T	1098028	C	T	1098028	3	4	23	1	0	0	0	0	1	0	0	0	6652	507	18	4	879	4	GPR146	7	1098028	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08		1098028	158040635	585	21179											
EIF3B	8662	broad.mit.edu	37	chr7	2414230	2414230	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacagttcgtggtgttggcGggcctgaggaggtaggtgtc	20	6	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:2414230G>A	uc003slx.2	+	13	1961	c.1878G>A	c.(1876-1878)GCG>GCA	p.A626A	EIF3B_uc003sly.2_Silent_p.A626A|EIF3B_uc003sma.2_Silent_p.A354A|EIF3B_uc003smb.2_5'Flank	NM_003751	NP_003742	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3,	626					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity				0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		TGGTGTTGGCGGGCCTGAGGA	0.627													A	2414230	G	A	2414230	2	1	23	1	0	0	0	0	0	0	0	1	5013	1103	39	1		1	EIF3B	7	2414230	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1316202	2414230	156724433	586	21180											
CHST12	55501	broad.mit.edu	37	chr7	2473129	2473129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaccacaccagcctgccCgcctcggcgcgcgaggcctt	11	20	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:2473129C>T	uc003smc.2	+	2	990	c.855C>T	c.(853-855)CCC>CCT	p.P285P	CHST12_uc003smd.2_Silent_p.P285P	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN	carbohydrate sulfotransferase 12	285	Lumenal (Potential).				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			kidney(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CCAGCCTGCCCGCCTCGGCGC	0.652													T	2473129	C	T	2473129	2	4	23	1	0	0	0	0	0	0	0	1	3400	639	23	1		1	CHST12	7	2473129	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	58899	2473129	156665534	587	21181											
CARD11	84433	broad.mit.edu	37	chr7	2962768	2962768	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccgccatcccctcaccaGcagcagctggtggccctcac	9	19	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:2962768G>A	uc003smv.2	-	16	2544	c.2140C>T	c.(2140-2142)CTG>TTG	p.L714L		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	714	PDZ.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCCCTCACCAGCAGCAGCTGG	0.647			Mis		DLBCL								A	2962768	G	A	2962768	2	1	23	1	0	0	0	0	0	0	0	1	2645	962	34	2		2	CARD11	7	2962768	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	489639	2962768	156175895	588	21182											
RADIL	55698	broad.mit.edu	37	chr7	4917262	4917262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggtgtccacctccttgGctgccagctcctccacgtcc	9	17	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:4917262G>A	uc003snj.1	-	2	682	c.509C>T	c.(508-510)GCC>GTC	p.A170V	RADIL_uc003sng.1_RNA|RADIL_uc011jwd.1_RNA	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	170					cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CACCTCCTTGGCTGCCAGCTC	0.602													A	4917262	G	A	4917262	3	1	23	1	0	0	0	0	1	0	0	0	12997	1203	42	2	2774	2	RADIL	7	4917262	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1954494	4917262	154221401	589	21183											
SLC29A4	222962	broad.mit.edu	37	chr7	5338627	5338627	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctccctccaggagcacccAgccccggccctggcccccaa	8	23	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:5338627A>G	uc003sod.2	+	8	1052	c.891A>G	c.(889-891)CCA>CCG	p.P297P	SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Silent_p.P297P|SLC29A4_uc003soe.2_Silent_p.P283P|SLC29A4_uc010ksw.2_RNA	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (nucleoside	297	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			liver(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		AGGAGCACCCAGCCCCGGCCC	0.672													G	5338627	A	G	5338627	2	3	23	1	0	0	0	0	0	0	0	1	14537	175	7	3		3	SLC29A4	7	5338627	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	421365	5338627	153800036	590	21184											
CYTH3	9265	broad.mit.edu	37	chr7	6205435	6205435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcttccaggtcttcacaCgccctcctagaagcagaagg	11	14	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:6205435C>T	uc003spt.2	-	10	934	c.830G>A	c.(829-831)CGT>CAT	p.R277H	CYTH3_uc011jws.1_Missense_Mutation_p.R192H	NM_004227	NP_004218	O43739	CYH3_HUMAN	cytohesin 3	278	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity				0						GGTCTTCACACGCCCTCCTAG	0.602													T	6205435	C	T	6205435	3	4	23	1	0	0	0	0	1	0	0	0	4205	536	19	1	385	1	CYTH3	7	6205435	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	866808	6205435	152933228	591	21185											
AHR	196	broad.mit.edu	37	chr7	17379837	17379837	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagtactgccaggccaacaGgcatttttaaacaaggtaag	9	10	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:17379837G>T	uc011jxz.1	+	10	3001	c.2388G>T	c.(2386-2388)CAG>CAT	p.Q796H	AHR_uc003stt.3_RNA	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor precursor	796					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CAGGCCAACAGGCATTTTTAA	0.428													T	17379837	G	T	17379837	3	4	23	1	0	0	0	0	1	0	0	0	416	991	35	5	2426	5	AHR	7	17379837	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	11174402	17379837	141758826	592	21186											
FERD3L	222894	broad.mit.edu	37	chr7	19184632	19184632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagctggtcaaaggcctcGttgaggttgaacatccgctt	12	11	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:19184632G>A	uc003suo.1	-	1	413	c.354C>T	c.(352-354)AAC>AAT	p.N118N	uc003sun.1_RNA	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	118	Helix-loop-helix motif.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(1)	1						CAAAGGCCTCGTTGAGGTTGA	0.587													A	19184632	G	A	19184632	2	1	23	1	0	0	0	0	0	0	0	1	5816	1136	40	1		1	FERD3L	7	19184632	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1804795	19184632	139954031	593	21187											
TWISTNB	221830	broad.mit.edu	37	chr7	19738156	19738156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcccagatgccattcGcattattagtattctgcagg	7	13	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:19738156G>A	uc003sup.1	-	4	821	c.800C>T	c.(799-801)GCG>GTG	p.A267V		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	TWIST neighbor	267	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			ovary(1)	1						GATGCCATTCGCATTATTAGT	0.478													A	19738156	G	A	19738156	3	1	23	1	0	0	0	0	1	0	0	0	16781	1087	38	1	220	1	TWISTNB	7	19738156	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	553524	19738156	139400507	594	21188											
SP8	221833	broad.mit.edu	37	chr7	20824665	20824665	+	Frame_Shift_Del	DEL	C	C	-													gagtgcagcgaggtttggagCcccccggcggcagggtgcag							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:20824665delC	uc003suy.2	-	3	958	c.717delG	c.(715-717)GGGfs	p.G239fs	SP8_uc003suz.2_Frame_Shift_Del_p.G257fs	NM_198956	NP_945194	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor isoform 2	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1						AGGTTTGGAGCCCCCCGGCGG	0.711													-	20824665	C	-	20824665	7	5	23	1	0	1	0	1	0	0	0	0	14970	726	26	0	759	0	SP8	7	20824665	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	1086509	20824665	138313998	595	21189											
DNAH11	8701	broad.mit.edu	37	chr7	21639564	21639564	+	Frame_Shift_Del	DEL	T	T	-													aacaattgaaaccggcaccgTtttttcaagcacaaatgatc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:21639563_21639563GT>G	uc003svc.3	+	14	2857	c.2826_2826GT>G	c.(2824-2826)ccgfs	p.P942fs		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	942	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AACCGGCACCGTTTTTTCAAG	0.408									Kartagener syndrome				-	21639564	T	-	21639564	7	5	23	1	0	1	0	1	0	0	0	0	4599	1725	60	0	2885	0	DNAH11	7	21639564	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	814899	21639564	137499099	596	21190											
IGF2BP3	10643	broad.mit.edu	37	chr7	23401218	23401218	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttccgagtcagtgttcacTagaggaagagaaaaacgaag	12	6	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:23401218T>C	uc003swg.2	-	5	604	c.338_splice	c.e5-1	p.V113_splice		NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding						anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			ovary(2)	2						CAGTGTTCACTAGAGGAAGAG	0.348													C	23401218	T	C	23401218	5	2	23	1	0	0	0	0	0	0	1	0	7575	1536	53	3	1447	3	IGF2BP3	7	23401218	Splice_Site	SNP	T	TCGA-BR-4368-01A-01D-1158-08	1761654	23401218	135737445	597	21191											
NOD1	10392	broad.mit.edu	37	chr7	30491486	30491486	+	Frame_Shift_Del	DEL	A	A	-													aggcctggagggtgaggtggAaaaactcataggactgctgg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:30491485_30491485GA>G	uc003tav.3	-	5	2071	c.1548_1548TC>C	c.(1546-1548)ttcfs	p.F516fs		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	516	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GGGTGAGGTGGAAAAACTCAT	0.632													-	30491486	A	-	30491486	7	5	23	1	0	1	0	1	0	0	0	0	10516	246	9	0	1350	0	NOD1	7	30491486	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	7090268	30491486	128647177	598	21192											
NOD1	10392	broad.mit.edu	37	chr7	30491514	30491514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggactgctggtcaccccCggggcccagctccggcaaag	13	15	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:30491514C>T	uc003tav.2	-	6	2042	c.1519G>A	c.(1519-1521)GGG>AGG	p.G507R		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	507	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2						TGGTCACCCCCGGGGCCCAGC	0.627													T	30491514	C	T	30491514	3	4	23	1	0	0	0	0	1	0	0	0	10516	652	23	1	1378	1	NOD1	7	30491514	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	28	30491514	128647149	599	21193											
ANLN	54443	broad.mit.edu	37	chr7	36489380	36489380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttgaattaattactgtccGaccacaaagagaagatgacc	7	8	0	4	rs140729544		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:36489380G>A	uc003tff.2	+	23	3389	c.3185G>A	c.(3184-3186)CGA>CAA	p.R1062Q	ANLN_uc011kaz.1_Missense_Mutation_p.R974Q|ANLN_uc003tfg.2_Missense_Mutation_p.R1025Q|ANLN_uc010kxe.2_Missense_Mutation_p.R1024Q	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	1062	PH.|Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3						ATTACTGTCCGACCACAAAGA	0.403													A	36489380	G	A	36489380	3	1	23	1	0	0	0	0	1	0	0	0	694	1058	37	1	3275	1	ANLN	7	36489380	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	5997866	36489380	122649283	600	21194											
AOAH	313	broad.mit.edu	37	chr7	36677512	36677512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtagtgtaaatttccatGtctcctataaaaacaaagtt	5	7	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:36677512G>A	uc003tfh.3	-	5	796	c.395C>T	c.(394-396)ACA>ATA	p.T132I	AOAH_uc010kxf.2_Missense_Mutation_p.T132I|AOAH_uc011kba.1_Missense_Mutation_p.T100I	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor	132					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			skin(1)	1						AAATTTCCATGTCTCCTATAA	0.358													A	36677512	G	A	36677512	3	1	23	1	0	0	0	0	1	0	0	0	726	1377	48	4	1741	4	AOAH	7	36677512	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	188132	36677512	122461151	601	21195											
MRPS24	64951	broad.mit.edu	37	chr7	43906548	43906548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaaaacatcctccaccgttCgctctgcggcatggtcctct	9	15	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:43906548C>T	uc003tit.1	-	4	305	c.254G>A	c.(253-255)CGA>CAA	p.R85Q		NM_032014	NP_114403	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24 precursor	85					translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0						CTCCACCGTTCGCTCTGCGGC	0.562													T	43906548	C	T	43906548	3	4	23	1	0	0	0	0	1	0	0	0	9835	884	31	1	253	1	MRPS24	7	43906548	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	7229036	43906548	115232115	602	21196											
AEBP1	165	broad.mit.edu	37	chr7	44152488	44152488	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcgtcaacggggccaAgtggaacccccggaccggga	16	13	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:44152488A>G	uc003tkb.2	+	18	2854	c.2549A>G	c.(2548-2550)AAG>AGG	p.K850R	AEBP1_uc003tkc.3_Missense_Mutation_p.K425R|AEBP1_uc003tkd.2_Missense_Mutation_p.K100R	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	850	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AACGGGGCCAAGTGGAACCCC	0.682													G	44152488	A	G	44152488	3	3	23	1	0	0	0	0	1	0	0	0	349	72	3	3	2619	3	AEBP1	7	44152488	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	245940	44152488	114986175	603	21197											
ZPBP	11055	broad.mit.edu	37	chr7	50022992	50022992	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attcattccatatcctggaaAgcagcgattaatccaaacca	5	11	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:50022992A>C	uc003tou.2	-	7	977	c.907T>G	c.(907-909)TTT>GTT	p.F303V	ZPBP_uc011kci.1_Missense_Mutation_p.F229V|ZPBP_uc010kyw.2_Missense_Mutation_p.F302V	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein isoform 1	303					binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)					TATCCTGGAAAGCAGCGATTA	0.333													C	50022992	A	C	50022992	3	2	23	1	0	0	0	0	1	0	0	0	18216	72	3	5	156	5	ZPBP	7	50022992	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	5870504	50022992	109115671	604	21198											
FIGNL1	63979	broad.mit.edu	37	chr7	50514362	50514362	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattttgcagtagctgactcAcctacaggtgctgagaatgt	10	8	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:50514362A>G	uc003tpc.2	-	4	1001	c.624T>C	c.(622-624)GGT>GGC	p.G208G	FIGNL1_uc003tpb.2_Silent_p.G97G|FIGNL1_uc003tpd.2_Silent_p.G208G|FIGNL1_uc003tpe.2_Silent_p.G208G|FIGNL1_uc010kyy.2_Silent_p.G208G	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	208					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			ovary(3)	3	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TAGCTGACTCACCTACAGGTG	0.433													G	50514362	A	G	50514362	2	3	23	1	0	0	0	0	0	0	0	1	5892	146	6	3		3	FIGNL1	7	50514362	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	491370	50514362	108624301	605	21199											
POM121L12	285877	broad.mit.edu	37	chr7	53104115	53104115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcagtttttgtgatgatGcttggccttccgtgctggtc	12	10	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:53104115G>A	uc003tpz.2	+	1	767	c.751G>A	c.(751-753)GCT>ACT	p.A251T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	251											0						TTGTGATGATGCTTGGCCTTC	0.637													A	53104115	G	A	53104115	3	1	23	1	0	0	0	0	1	0	0	0	12241	1319	46	2	753	2	POM121L12	7	53104115	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2589753	53104115	106034548	606	21200											
POM121	9883	broad.mit.edu	37	chr7	72412589	72412589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaacccttcaggcagagaCggctaccaaaccccaagcca	7	17	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:72412589C>T	uc003twk.2	+	11	2057	c.2057C>T	c.(2056-2058)ACG>ATG	p.T686M	POM121_uc003twj.2_Missense_Mutation_p.T421M|POM121_uc010lam.1_Missense_Mutation_p.T421M	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	686	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore					0		Lung NSC(55;0.163)				CAGGCAGAGACGGCTACCAAA	0.607													T	72412589	C	T	72412589	3	4	23	1	0	0	0	0	1	0	0	0	12239	536	19	1	1300	1	POM121	7	72412589	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	19308474	72412589	86726074	607	21201											
BAZ1B	9031	broad.mit.edu	37	chr7	72857062	72857062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacagcactcacctgaaggGccagctgaagcggtacttca	10	13	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:72857062G>A	uc003tyc.2	-	18	4432	c.4087C>T	c.(4087-4089)CCC>TCC	p.P1363S		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1363	Bromo.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)				CACCTGAAGGGCCAGCTGAAG	0.592													A	72857062	G	A	72857062	3	1	23	1	0	0	0	0	1	0	0	0	1330	1203	42	2	372	2	BAZ1B	7	72857062	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	444473	72857062	86281601	608	21202											
MLXIPL	51085	broad.mit.edu	37	chr7	73011248	73011248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaagtggtggctccagggCttgctccggcttagctgtgc	14	11	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:73011248C>T	uc003tyn.1	-	10	1666	c.1618G>A	c.(1618-1620)GCC>ACC	p.A540T	MLXIPL_uc003tyj.1_5'UTR|MLXIPL_uc003tyk.1_Missense_Mutation_p.A540T|MLXIPL_uc003tyl.1_Missense_Mutation_p.A540T|MLXIPL_uc003tym.1_Missense_Mutation_p.A540T|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.A447T|MLXIPL_uc003tyq.1_Missense_Mutation_p.A282T	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	540					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGCTCCAGGGCTTGCTCCGGC	0.667													T	73011248	C	T	73011248	3	4	23	1	0	0	0	0	1	0	0	0	9637	797	28	2	972	2	MLXIPL	7	73011248	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	154186	73011248	86127415	609	21203											
GTF2I	2969	broad.mit.edu	37	chr7	74114939	74114939	+	Frame_Shift_Del	DEL	T	T	-													gttttgttttaatgcagaccTtttttagagccaaagaagca							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:74114938_74114938CT>C	uc003uau.3	+	5	930	c.560_560CT>C	c.(559-561)cctfs	p.P187fs	GTF2I_uc003uat.3_Frame_Shift_Del_p.P187fs|GTF2I_uc003uav.3_Frame_Shift_Del_p.P187fs|GTF2I_uc003uaw.3_Frame_Shift_Del_p.P187fs|GTF2I_uc003uay.3_Frame_Shift_Del_p.P187fs|GTF2I_uc003uax.3_Frame_Shift_Del_p.P187fs|BC070376_uc003uaz.3_Intron	NM_032999	NP_127492	P78347	GTF2I_HUMAN	Homo sapiens general transcription factor IIi (GTF2I), transcript variant 1, mRNA.	187					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						tAATGCAGACCTTTTTTAGAG	0.313													-	74114939	T	-	74114939	7	5	23	1	0	1	0	1	0	0	0	0	6867	1596	56	0	579	0	GTF2I	7	74114939	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	1103691	74114939	85023724	610	21204											
MAGI2	9863	broad.mit.edu	37	chr7	77764526	77764527	+	Splice_Site	INS	-	-	A													gattttatggggcacagctaINSaaaaaaccccaacagaaata							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:77764525_77764526T>TA	uc003ugx.3	-	17	3100	c.2846_splice	c.e17-1	p.T949_splice	MAGI2_uc003ugy.3_Splice_Site_p.T935_splice|MAGI2_uc010ldx.1_Splice_Site_p.T542_splice	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	949	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGGGCACAGCTAAAAAAACCCC	0.46													A	77764527	-	A	77764526	8	5	23	1	0	1	1	0	0	0	1	0	9191	377	13	0		0	MAGI2	7	77764526	Splice_Site	INS	-	TCGA-BR-4368-01A-01D-1158-08	3649587	77764526	81374137	611	21205											
PCLO	27445	broad.mit.edu	37	chr7	82390038	82390038	+	Frame_Shift_Del	DEL	T	T	-													atcatgtctgcatactcttgTttttttcttgatcacctttt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:82390037_82390037GT>G	uc003uhx.2	-	23	15495	c.15206_15206AC>C	c.(15205-15207)acafs	p.T5069fs		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4992					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCATACTCTTGTTTTTTTCTT	0.328													-	82390038	T	-	82390038	7	5	23	1	0	1	0	1	0	0	0	0	11583	1725	60	0	231	0	PCLO	7	82390038	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	4625512	82390038	76748625	612	21206											
PCLO	27445	broad.mit.edu	37	chr7	82582944	82582944	+	Frame_Shift_Del	DEL	T	T	-													ctggagatgcaactgttaacTtttttttaggaagaatagtt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:82582943_82582943CT>C	uc003uhx.2	-	4	7615	c.7326_7326AG>G	c.(7324-7326)aagfs	p.K2442fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.K2442fs|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2373	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.K2442N(3)|p.K2373N(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAACTGTTAACTTTTTTTTAG	0.493													-	82582944	T	-	82582944	7	5	23	1	0	1	0	1	0	0	0	0	11583	1609	56	0	8204	0	PCLO	7	82582944	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	192906	82582944	76555719	613	21207											
PCLO	27445	broad.mit.edu	37	chr7	82764703	82764703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatctgcctcagggggctgCttggccttggctgaaggaga	16	9	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:82764703C>T	uc003uhx.2	-	3	2452	c.2163G>A	c.(2161-2163)AAG>AAA	p.K721K	PCLO_uc003uhv.2_Silent_p.K721K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	667	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CAGGGGGCTGCTTGGCCTTGG	0.537													T	82764703	C	T	82764703	2	4	23	1	0	0	0	0	0	0	0	1	11583	796	28	2		2	PCLO	7	82764703	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	181759	82764703	76373960	614	21208											
ABCB4	5244	broad.mit.edu	37	chr7	87038559	87038559	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagagaacttacaggcttcAgcccctcttcactgtagctg	8	13	4	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:87038559A>G	uc003uiv.1	-	24	3150	c.3074T>C	c.(3073-3075)CTG>CCG	p.L1025P	ABCB4_uc003uiw.1_Missense_Mutation_p.L1025P|ABCB4_uc003uix.1_Missense_Mutation_p.L978P	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	1025	Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TACAGGCTTCAGCCCCTCTTC	0.423													G	87038559	A	G	87038559	3	3	23	1	0	0	0	0	1	0	0	0	43	188	7	3	806	3	ABCB4	7	87038559	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	4273856	87038559	72100104	615	21209											
PEX1	5189	broad.mit.edu	37	chr7	92129019	92129019	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agataagtagacaacataccTtgacacttataaaattcatt	4	7	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:92129019T>C	uc003uly.2	-	16	2813	c.2717A>G	c.(2716-2718)AAG>AGG	p.K906R	PEX1_uc011khr.1_Missense_Mutation_p.K698R|PEX1_uc010ley.2_Missense_Mutation_p.K849R|PEX1_uc011khs.1_Missense_Mutation_p.K584R|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	906					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ACAACATACCTTGACACTTAT	0.244													C	92129019	T	C	92129019	3	2	23	1	0	0	0	0	1	0	0	0	11735	1623	56	3	1170	3	PEX1	7	92129019	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	5090460	92129019	67009644	616	21210											
CDK6	1021	broad.mit.edu	37	chr7	92355017	92355017	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttatttgtccgctgctggTcaccagaatgttctgtggtt	10	8	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:92355017T>A	uc011khw.1	-	4	872	c.460A>T	c.(460-462)ACC>TCC	p.T154S	CDK6_uc010lez.2_Missense_Mutation_p.T154S	NM_001259	NP_001250	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	154	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|skin(1)	2	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CCGCTGCTGGTCACCAGAATG	0.468			T	MLLT10	ALL								A	92355017	T	A	92355017	3	1	23	1	0	0	0	0	1	0	0	0	3148	1667	58	5	540	5	CDK6	7	92355017	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	225998	92355017	66783646	617	21211											
SAMD9	54809	broad.mit.edu	37	chr7	92732375	92732375	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgaagaacaaattctcagtTagcatatccaacataatttg	5	8	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:92732375T>C	uc003umf.2	-	3	3292	c.3036A>G	c.(3034-3036)CTA>CTG	p.L1012L	SAMD9_uc003umg.2_Silent_p.L1012L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1012						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AATTCTCAGTTAGCATATCCA	0.383													C	92732375	T	C	92732375	2	2	23	1	0	0	0	0	0	0	0	1	13826	1741	61	3		3	SAMD9	7	92732375	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	377358	92732375	66406288	618	21212											
SAMD9L	219285	broad.mit.edu	37	chr7	92761061	92761061	+	Frame_Shift_Del	DEL	T	T	-													tgcaagacctctcggagttgTttttttagcgtggtaagtgg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:92761060_92761060GT>G	uc003umh.1	-	4	5441	c.4225_4225AC>C	c.(4225-4227)caafs	p.Q1409fs	SAMD9L_uc003umj.1_Frame_Shift_Del_p.Q1409fs|SAMD9L_uc003umi.1_Frame_Shift_Del_p.Q1409fs|SAMD9L_uc010lfb.1_Frame_Shift_Del_p.Q1409fs|SAMD9L_uc003umk.1_Frame_Shift_Del_p.Q1409fs|SAMD9L_uc010lfc.1_Frame_Shift_Del_p.Q1409fs|SAMD9L_uc010lfd.1_Frame_Shift_Del_p.Q1409fs|SAMD9L_uc022ahh.1_Frame_Shift_Del_p.Q1409fs	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1409										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTCGGAGTTGTTTTTTTAGC	0.403													-	92761061	T	-	92761061	7	5	23	1	0	1	0	1	0	0	0	0	13827	1722	60	0	534	0	SAMD9L	7	92761061	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	28686	92761061	66377602	619	21213											
CASD1	64921	broad.mit.edu	37	chr7	94184878	94184878	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtactgatacctggaaacccTatgctcaacatcattgtcag	7	11	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:94184878T>C	uc003uni.3	+	18	2429	c.2202T>C	c.(2200-2202)CCT>CCC	p.P734P	CASD1_uc003unj.3_Silent_p.P734P	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	734	Helical; (Potential).					integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTGGAAACCCTATGCTCAACA	0.373													C	94184878	T	C	94184878	2	2	23	1	0	0	0	0	0	0	0	1	2664	1509	53	3		3	CASD1	7	94184878	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	1423817	94184878	64953785	620	21214											
LMTK2	22853	broad.mit.edu	37	chr7	97822305	97822305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagggagaaacccagcccaCgtgtttagatgttattgtcc	10	10	0	2	rs61734172	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:97822305C>T	uc003upd.1	+	11	2821	c.2528C>T	c.(2527-2529)ACG>ATG	p.T843M		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	843					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ACCCAGCCCACGTGTTTAGAT	0.557													T	97822305	C	T	97822305	3	4	23	1	0	0	0	0	1	0	0	0	8859	536	19	1	2570	1	LMTK2	7	97822305	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3637427	97822305	61316358	621	21215											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97946560	97946560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgttcatatttgagtgCgtttcggcttccttggcttt	10	7	1	1	rs151171453		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:97946560C>T	uc003upj.2	-	6	720	c.457G>A	c.(457-459)GCA>ACA	p.A153T		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	153	Potential.|IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			ovary(1)	1	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TATTTGAGTGCGTTTCGGCTT	0.348													T	97946560	C	T	97946560	3	4	23	1	0	0	0	0	1	0	0	0	1302	768	27	1	1114	1	BAIAP2L1	7	97946560	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	124255	97946560	61192103	622	21216											
ARPC1A	10552	broad.mit.edu	37	chr7	98957328	98957328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaactgaggaccgcaacaCggccttggagacgctgcacc	11	15	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:98957328C>T	uc003upx.1	+	8	1097	c.950C>T	c.(949-951)ACG>ATG	p.T317M	ARPC1A_uc010lfu.1_RNA|ARPC1A_uc003upy.1_Missense_Mutation_p.T303M|ARPC1A_uc011kit.1_RNA	NM_006409	NP_006400	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex subunit 1A	317					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			ovary(1)	1	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			GACCGCAACACGGCCTTGGAG	0.537													T	98957328	C	T	98957328	3	4	23	1	0	0	0	0	1	0	0	0	969	536	19	1	976	1	ARPC1A	7	98957328	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1010768	98957328	60181335	623	21217											
CYP3A43	64816	broad.mit.edu	37	chr7	99461224	99461224	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccttttggagctggacccCgaaactgcattggcatgagg	12	10	0	1	rs149091175		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:99461224C>T	uc003urx.1	+	12	1421	c.1318C>T	c.(1318-1320)CGA>TGA	p.R440*	CYP3A43_uc003ury.1_Nonsense_Mutation_p.R441*|CYP3A43_uc003urz.1_Intron|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Nonsense_Mutation_p.R330*|CYP3A43_uc003usb.1_Intron	NM_057095	NP_476436	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A,	440			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	AGCTGGACCCCGAAACTGCAT	0.398													T	99461224	C	T	99461224	4	4	23	1	0	0	0	0	0	1	0	0	4179	644	23	1	1367	1	CYP3A43	7	99461224	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	503896	99461224	59677439	624	21218											
ZAN	7455	broad.mit.edu	37	chr7	100350276	100350276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccatccccatggaaaaaCccaccatctccacagaaaaa	3	16	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:100350276C>T	uc003uwj.2	+	14	2713	c.2548C>T	c.(2548-2550)CCC>TCC	p.P850S	ZAN_uc003uwk.2_Missense_Mutation_p.P850S|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	850	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CATGGAAAAACCCACCATCTC	0.502													T	100350276	C	T	100350276	3	4	23	1	0	0	0	0	1	0	0	0	17510	507	18	4	2598	4	ZAN	7	100350276	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	889052	100350276	58788387	625	21219											
SLC12A9	56996	broad.mit.edu	37	chr7	100452322	100452323	+	Frame_Shift_Del	DEL	CT	CT	-													tcatcctggcactcaccgtcCtctctgtctgtgccatcgcc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:100452321_100452322CCT>C	uc003uwp.3	+	2	403_404	c.261_262CCT>C	c.(259-264)gtcctcfs	p.V87fs	SLC12A9_uc003uwo.1_Intron|SLC12A9_uc003uwq.3_Intron|SLC12A9_uc011kki.2_Intron|SLC12A9_uc003uwr.3_5'Flank|SLC12A9_uc003uws.3_5'Flank|SLC12A9_uc003uwt.3_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	87						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CACTCACCGTCCTCTCTGTCTG	0.619													-	100452323	CT	-	100452322	7	5	23	1	0	1	0	1	0	0	0	0	14390	681	24	0	268	0	SLC12A9	7	100452322	Frame_Shift_Del	DEL	CT	TCGA-BR-4368-01A-01D-1158-08	102046	100452322	58686341	626	21220											
ACHE	43	broad.mit.edu	37	chr7	100488914	100488914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgagcccccgccgtgtaCgggggccattgtggggcctt	16	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:100488914C>T	uc003uxd.2	-	3	1755	c.1599G>A	c.(1597-1599)CCG>CCA	p.P533P	UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Silent_p.P533P|ACHE_uc003uxf.2_Silent_p.P533P|ACHE_uc003uxg.2_Silent_p.P533P|ACHE_uc003uxh.2_Silent_p.P445P|ACHE_uc003uxi.2_Silent_p.P533P	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	533					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CCGCCGTGTACGGGGGCCATT	0.706													T	100488914	C	T	100488914	2	4	23	1	0	0	0	0	0	0	0	1	141	523	19	1		1	ACHE	7	100488914	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	36592	100488914	58649749	627	21221											
AP1S1	1174	broad.mit.edu	37	chr7	100799894	100799894	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgcggttcatgctattatTcagccggcagggaaaactgc	12	9	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:100799894T>G	uc003uxv.3	+	2	133	c.23T>G	c.(22-24)TTC>TGC	p.F8C		NM_001283	NP_001274	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1	8					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)					ATGCTATTATTCAGCCGGCAG	0.522													G	100799894	T	G	100799894	3	3	23	1	0	0	0	0	1	0	0	0	736	1783	62	5	29	5	AP1S1	7	100799894	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	310980	100799894	58338769	628	21222											
CLDN15	24146	broad.mit.edu	37	chr7	100880766	100880766	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgacgttcccgtgcacagTggacactcgccagtagctgt	12	12	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:100880766T>C	uc003uyg.1	-	1	351	c.97A>G	c.(97-99)ACT>GCT	p.T33A	CLDN15_uc003uyh.1_Missense_Mutation_p.T33A|CLDN15_uc003uyi.2_Missense_Mutation_p.T33A	NM_014343	NP_055158	P56746	CLD15_HUMAN	claudin 15	33	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)					CCGTGCACAGTGGACACTCGC	0.572													C	100880766	T	C	100880766	3	2	23	1	0	0	0	0	1	0	0	0	3476	1696	59	3	609	3	CLDN15	7	100880766	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	80872	100880766	58257897	629	21223											
FBXL13	222235	broad.mit.edu	37	chr7	102518012	102518012	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcaaatgttcacaatttcGtaaactcaagtagtttaaat	5	6	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:102518012G>A	uc003vaq.2	-	16	1964	c.1537C>T	c.(1537-1539)CGA>TGA	p.R513*	FBXL13_uc010liq.1_Intron|FBXL13_uc010lir.1_Nonsense_Mutation_p.R513*|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Nonsense_Mutation_p.R513*	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	513	LRR 11.										0						TCACAATTTCGTAAACTCAAG	0.323													A	102518012	G	A	102518012	4	1	23	1	0	0	0	0	0	1	0	0	5709	1153	40	1	690	1	FBXL13	7	102518012	Nonsense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1637246	102518012	56620651	630	21224											
SYPL1	6856	broad.mit.edu	37	chr7	105739652	105739652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttttattctcagtaactGcaggaggacaattcacttga	8	8	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:105739652G>A	uc003vdp.2	-	3	282	c.200C>T	c.(199-201)GCA>GTA	p.A67V	SYPL1_uc003vdo.2_Missense_Mutation_p.A49V	NM_006754	NP_006745	Q16563	SYPL1_HUMAN	synaptophysin-like 1 isoform a	67	MARVEL.|Vesicular (Potential).				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity				0						CTCAGTAACTGCAGGAGGACA	0.348													A	105739652	G	A	105739652	3	1	23	1	0	0	0	0	1	0	0	0	15459	1319	46	2	595	2	SYPL1	7	105739652	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3221640	105739652	53399011	631	21225											
PIK3CG	5294	broad.mit.edu	37	chr7	106509611	106509611	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctaagcatcagcccacCcctgacccggaaggggaccg	11	17	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:106509611C>T	uc003vdv.3	+	2	1690	c.1605C>T	c.(1603-1605)ACC>ACT	p.T535T	PIK3CG_uc003vdu.2_Silent_p.T535T|PIK3CG_uc003vdw.2_Silent_p.T535T	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	535					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						ATCAGCCCACCCCTGACCCGG	0.542													T	106509611	C	T	106509611	2	4	23	1	0	0	0	0	0	0	0	1	11916	610	22	4		4	PIK3CG	7	106509611	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	769959	106509611	52629052	632	21226											
PIK3CG	5294	broad.mit.edu	37	chr7	106519994	106519994	+	Frame_Shift_Del	DEL	A	A	-													gtaaagtaatggcctccaagAaaaaaccactatggcttgag							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:106519993_106519993GA>G	uc003vdv.4	+	5	2506	c.2421_2421GA>G	c.(2419-2421)aagfs	p.K807fs	PIK3CG_uc003vdu.3_Frame_Shift_Del_p.K807fs|PIK3CG_uc003vdw.3_Frame_Shift_Del_p.K807fs	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	807					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.S806F(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGGCCTCCAAGAAAAAACCAC	0.378													-	106519994	A	-	106519994	7	5	23	1	0	1	0	1	0	0	0	0	11916	247	9	0	2440	0	PIK3CG	7	106519994	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	10383	106519994	52618669	633	21227											
COG5	10466	broad.mit.edu	37	chr7	106871061	106871061	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaagaattcggtcttaccTgaatgatctcagcatccgat	7	10	2	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:106871061T>C	uc003ved.2	-	18	2722	c.2197A>G	c.(2197-2199)AGA>GGA	p.R733G	COG5_uc003vec.2_Missense_Mutation_p.R754G|COG5_uc003vee.2_Missense_Mutation_p.R754G	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	733					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						CGGTCTTACCTGAATGATCTC	0.313													C	106871061	T	C	106871061	3	2	23	1	0	0	0	0	1	0	0	0	3661	1594	55	3	342	3	COG5	7	106871061	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	351067	106871061	52267602	634	21228											
LRRN3	54674	broad.mit.edu	37	chr7	110763732	110763732	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagctgatttccatcgatAgtcttgctgtggataacctg	10	9	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:110763732A>G	uc003vft.3	+	4	1950	c.904A>G	c.(904-906)AGT>GGT	p.S302G	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.S302G|LRRN3_uc003vfs.3_Missense_Mutation_p.S302G	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	302	Extracellular (Potential).|LRR 10.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TTCCATCGATAGTCTTGCTGT	0.363													G	110763732	A	G	110763732	3	3	23	1	0	0	0	0	1	0	0	0	9036	420	15	3	906	3	LRRN3	7	110763732	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	3892671	110763732	48374931	635	21229											
LRRN3	54674	broad.mit.edu	37	chr7	110764048	110764048	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaattccaaggtcagaatgTtcggcaagtgcatttcaggg	12	7	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:110764048T>A	uc003vft.3	+	4	2266	c.1220T>A	c.(1219-1221)GTT>GAT	p.V407D	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.V407D|LRRN3_uc003vfs.3_Missense_Mutation_p.V407D	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	407	Extracellular (Potential).|LRRCT.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GGTCAGAATGTTCGGCAAGTG	0.438													A	110764048	T	A	110764048	3	1	23	1	0	0	0	0	1	0	0	0	9036	1725	60	5	1222	5	LRRN3	7	110764048	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	316	110764048	48374615	636	21230											
GPR37	2861	broad.mit.edu	37	chr7	124386748	124386748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcactccatgaaggccCgactgaagggtttgcagaga	13	10	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:124386748C>T	uc003vli.2	-	2	2324	c.1673G>A	c.(1672-1674)CGG>CAG	p.R558Q		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	558	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						CATGAAGGCCCGACTGAAGGG	0.488													T	124386748	C	T	124386748	3	4	23	1	0	0	0	0	1	0	0	0	6691	652	23	1	172	1	GPR37	7	124386748	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	13622700	124386748	34751915	637	21231											
ZNF800	168850	broad.mit.edu	37	chr7	127013401	127013401	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaactgttcctcaccagacAagagccttagatcttgtact	6	11	2	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:127013401A>G	uc003vlx.1	-	5	2252	c.1989T>C	c.(1987-1989)CTT>CTC	p.L663L	ZNF800_uc003vlw.1_Silent_p.L566L|ZNF800_uc003vly.1_Silent_p.L663L|ZNF800_uc010lla.2_Silent_p.L663L	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	zinc finger protein 800	663					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTCACCAGACAAGAGCCTTAG	0.368													G	127013401	A	G	127013401	2	3	23	1	0	0	0	0	0	0	0	1	18166	117	5	3		3	ZNF800	7	127013401	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	2626653	127013401	32125262	638	21232											
ZNF800	168850	broad.mit.edu	37	chr7	127014560	127014560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactagaacattcttactgCgtcctttagaggattggttt	9	7	1	2	rs141987989	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:127014560C>T	uc003vlx.1	-	5	1093	c.830G>A	c.(829-831)CGC>CAC	p.R277H	ZNF800_uc003vlw.1_Missense_Mutation_p.R180H|ZNF800_uc003vly.1_Missense_Mutation_p.R277H|ZNF800_uc010lla.2_Missense_Mutation_p.R277H	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	zinc finger protein 800	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATTCTTACTGCGTCCTTTAGA	0.368													T	127014560	C	T	127014560	3	4	23	1	0	0	0	0	1	0	0	0	18166	768	27	1	1172	1	ZNF800	7	127014560	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1159	127014560	32124103	639	21233											
FSCN3	29999	broad.mit.edu	37	chr7	127236057	127236057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcatctcagtcatctacGgcaagtgctggacccaacac	9	13	4	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:127236057G>A	uc003vmd.1	+	2	1060	c.841G>A	c.(841-843)GAT>AAT	p.D281N	FSCN3_uc003vmc.1_3'UTR|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Missense_Mutation_p.D147N|FSCN3_uc010llc.1_Missense_Mutation_p.D281N	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	281						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1						AGTCATCTACGGCAAGTGCTG	0.517													A	127236057	G	A	127236057	3	1	23	1	0	0	0	0	1	0	0	0	6069	1130	39	1	847	1	FSCN3	7	127236057	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	221497	127236057	31902606	640	21234											
FAM71F1	84691	broad.mit.edu	37	chr7	128356976	128356976	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccaacatcctactcatggCcagtgtcaaatggcaccagg	8	15	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:128356976C>A	uc003vno.1	+	2	412	c.359C>A	c.(358-360)GCC>GAC	p.A120D	FAM71F1_uc010llo.1_Missense_Mutation_p.A21D|FAM71F1_uc011koq.1_Silent_p.G44G|FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Silent_p.G41G|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Missense_Mutation_p.A120D	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	testes development-related NYD-SP18	120										skin(1)	1						CTACTCATGGCCAGTGTCAAA	0.562													A	128356976	C	A	128356976	3	1	23	1	0	0	0	0	1	0	0	0	5612	739	26	5	365	5	FAM71F1	7	128356976	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1120919	128356976	30781687	641	21235											
AHCYL2	23382	broad.mit.edu	37	chr7	129062714	129062714	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagaactgacctgggagCgagtgagatctcaagttgac	12	10	1	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:129062714C>T	uc011kov.1	+	13	1549	c.1495C>T	c.(1495-1497)CGA>TGA	p.R499*	AHCYL2_uc003vot.2_Nonsense_Mutation_p.R498*|AHCYL2_uc003vov.2_Nonsense_Mutation_p.R396*|AHCYL2_uc011kow.1_Nonsense_Mutation_p.R397*|AHCYL2_uc011kox.1_Nonsense_Mutation_p.R396*	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	S-adenosylhomocysteine hydrolase-like 2 isoform	499					one-carbon metabolic process		adenosylhomocysteinase activity			ovary(2)	2						GACCTGGGAGCGAGTGAGATC	0.512													T	129062714	C	T	129062714	4	4	23	1	0	0	0	0	0	1	0	0	411	760	27	1	1667	1	AHCYL2	7	129062714	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	705738	129062714	30075949	642	21236											
CPA2	1358	broad.mit.edu	37	chr7	129929544	129929544	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agccgaggagacctggcttgGcttgaaggcaatcatggagc	15	9	1	2	rs148949036		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:129929544G>C	uc003vpq.2	+	11	1236	c.1217G>C	c.(1216-1218)GGC>GCC	p.G406A		NM_001869	NP_001860	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic) precursor	406					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					ACCTGGCTTGGCTTGAAGGCA	0.527													C	129929544	G	C	129929544	3	2	23	1	0	0	0	0	1	0	0	0	3790	1203	42	5	1259	5	CPA2	7	129929544	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	866830	129929544	29209119	643	21237											
CPA4	51200	broad.mit.edu	37	chr7	129946724	129946724	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatcctgatggatatgtgtAtactcaaactcaagtgagta	8	7	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:129946724A>G	uc003vpr.2	+	7	736	c.689A>G	c.(688-690)TAT>TGT	p.Y230C	CPA4_uc011kpd.1_Missense_Mutation_p.Y197C|CPA4_uc011kpe.1_Missense_Mutation_p.Y126C	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4 preproprotein	230					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					GGATATGTGTATACTCAAACT	0.423													G	129946724	A	G	129946724	3	3	23	1	0	0	0	0	1	0	0	0	3792	449	16	3	715	3	CPA4	7	129946724	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	17180	129946724	29191939	644	21238											
CPA1	1357	broad.mit.edu	37	chr7	130021652	130021652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgttcgccttccggtcccGggcgcgctccaccgacactt	11	17	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:130021652G>A	uc003vpx.2	+	3	401	c.329G>A	c.(328-330)CGG>CAG	p.R110Q	CPA1_uc011kpf.1_Missense_Mutation_p.R22Q|CPA1_uc003vpw.2_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	carboxypeptidase A1 precursor	110					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					TTCCGGTCCCGGGCGCGCTCC	0.627											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	130021652	G	A	130021652	3	1	23	1	0	0	0	0	1	0	0	0	3789	1116	39	1	339	1	CPA1	7	130021652	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	74928	130021652	29117011	645	21239											
CPA1	1357	broad.mit.edu	37	chr7	130025028	130025028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctcggagacttaccacGgcaagtttgccaattccgaa	9	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:130025028G>A	uc003vpx.2	+	8	901	c.829G>A	c.(829-831)GGC>AGC	p.G277S	CPA1_uc003vpw.2_Missense_Mutation_p.G111S	NM_001868	NP_001859	P15085	CBPA1_HUMAN	carboxypeptidase A1 precursor	277					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					GACTTACCACGGCAAGTTTGC	0.557													A	130025028	G	A	130025028	3	1	23	1	0	0	0	0	1	0	0	0	3789	1116	39	1	859	1	CPA1	7	130025028	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3376	130025028	29113635	646	21240											
PLXNA4	91584	broad.mit.edu	37	chr7	132174136	132174136	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacagacgtcatgcggtccCtgtcctccgtgaagacggga	13	12	1	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:132174136C>A	uc003vra.3	-	3	1515	c.1286G>T	c.(1285-1287)AGG>ATG	p.R429M	PLXNA4_uc003vrc.2_Missense_Mutation_p.R429M|PLXNA4_uc003vrb.2_Missense_Mutation_p.R429M	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	429	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						CATGCGGTCCCTGTCCTCCGT	0.532													A	132174136	C	A	132174136	3	1	23	1	0	0	0	0	1	0	0	0	12122	681	24	5	4832	5	PLXNA4	7	132174136	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2149108	132174136	26964527	647	21241											
CHCHD3	54927	broad.mit.edu	37	chr7	132754985	132754985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcgatcaatcacattttccGaaagctggaaaagcaacatc	6	10	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:132754985G>A	uc003vre.2	-	2	222	c.86C>T	c.(85-87)TCG>TTG	p.S29L	CHCHD3_uc010lmi.2_RNA|CHCHD3_uc003vrf.2_Missense_Mutation_p.S29L|CHCHD3_uc010lmj.2_Intron|CHCHD3_uc011kpn.1_Missense_Mutation_p.S29L	NM_017812	NP_060282	Q9NX63	CHCH3_HUMAN	coiled-coil-helix-coiled-coil-helix domain	29					inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold				0						CACATTTTCCGAAAGCTGGAA	0.368													A	132754985	G	A	132754985	3	1	23	1	0	0	0	0	1	0	0	0	3317	1059	37	1	625	1	CHCHD3	7	132754985	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	580849	132754985	26383678	648	21242											
WDR91	29062	broad.mit.edu	37	chr7	134891882	134891882	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaacaaaccttctgacgcAgaacttcattttcttcttga	5	11	4	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:134891882A>G	uc003vsp.2	-	4	646	c.584T>C	c.(583-585)CTG>CCG	p.L195P	WDR91_uc010lmq.2_5'UTR|WDR91_uc010lmr.2_RNA	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	WD repeat domain 91	195	Potential.									breast(2)|ovary(1)|skin(1)	4						CTTCTGACGCAGAACTTCATT	0.443													G	134891882	A	G	134891882	3	3	23	1	0	0	0	0	1	0	0	0	17335	188	7	3	1707	3	WDR91	7	134891882	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	2136897	134891882	24246781	649	21243											
STRA8	346673	broad.mit.edu	37	chr7	134925394	134925394	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgtcccaggcccgccacCgagccaccctggcagcgctc	12	20	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:134925394C>T	uc011kpx.1	+	2	184	c.184C>T	c.(184-186)CGA>TGA	p.R62*		NM_182489	NP_872295	Q7Z7C7	STRA8_HUMAN	STRA8	62					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus					0						GGCCCGCCACCGAGCCACCCT	0.607													T	134925394	C	T	134925394	4	4	23	1	0	0	0	0	0	1	0	0	15322	644	23	1	190	1	STRA8	7	134925394	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	33512	134925394	24213269	650	21244											
NUP205	23165	broad.mit.edu	37	chr7	135272360	135272360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgggcagatgaagatgctcGaatgattcacatgagtatgc	12	7	1	5			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:135272360G>A	uc003vsw.2	+	9	1287	c.1256G>A	c.(1255-1257)CGA>CAA	p.R419Q	NUP205_uc011kqa.1_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	419					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						GAAGATGCTCGAATGATTCAC	0.343													A	135272360	G	A	135272360	3	1	23	1	0	0	0	0	1	0	0	0	10759	1058	37	1	1290	1	NUP205	7	135272360	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	346966	135272360	23866303	651	21245											
NUP205	23165	broad.mit.edu	37	chr7	135310094	135310094	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcactttatacttatgaAtctaaaatggtaaggctttc	6	6	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:135310094A>G	uc003vsw.2	+	32	4693	c.4662A>G	c.(4660-4662)GAA>GAG	p.E1554E	NUP205_uc003vsx.2_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1554					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						ATACTTATGAATCTAAAATGG	0.378													G	135310094	A	G	135310094	2	3	23	1	0	0	0	0	0	0	0	1	10759	98	4	3		3	NUP205	7	135310094	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	37734	135310094	23828569	652	21246											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138758692	138758694	+	In_Frame_Del	DEL	AGA	AGA	-													gaattggctggcttggtgacAgaagaaggagtggagaggcg					rs142594623		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:138758691_138758693CAGA>C	uc003vun.3	-	6	2169_2171	c.1781_1783TCTG>G	c.(1780-1785)tctgtc>tGtc	p.594_595SV>C	ZC3HAV1_uc003vuo.3_In_Frame_Del_p.55_56SV>C|ZC3HAV1_uc003vup.3_In_Frame_Del_p.594_595SV>C	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	594	WWE.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GGCTTGGTGACAGAAGAAGGAGT	0.438													-	138758694	AGA	-	138758692	7	5	23	1	0	1	0	1	0	0	0	0	17572	175	7	0	958	0	ZC3HAV1	7	138758692	In_Frame_Del	DEL	AGA	TCGA-BR-4368-01A-01D-1158-08	3448598	138758692	20379971	653	21247											
C7orf34	135927	broad.mit.edu	37	chr7	142637594	142637594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcttctgctttagtctgGccagtgtcatggttttctca	9	10	5	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:142637594G>A	uc003wca.2	+	2	405	c.364G>A	c.(364-366)GCC>ACC	p.A122T		NM_178829	NP_849151	Q96L11	CG034_HUMAN	hypothetical protein LOC135927	97						extracellular region					0	Melanoma(164;0.059)					CTTTAGTCTGGCCAGTGTCAT	0.557													A	142637594	G	A	142637594	3	1	23	1	0	0	0	0	1	0	0	0	2389	1203	42	2	370	2	C7orf34	7	142637594	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3878902	142637594	16501069	654	21248											
KEL	3792	broad.mit.edu	37	chr7	142638384	142638384	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggttcaagagagcaccacgTgcacagcggaaatacctggc	13	11	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:142638384T>C	uc003wcb.2	-	19	2364	c.2154A>G	c.(2152-2154)GCA>GCG	p.A718A		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	718	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)					GAGCACCACGTGCACAGCGGA	0.602													C	142638384	T	C	142638384	2	2	23	1	0	0	0	0	0	0	0	1	8142	1683	59	3		3	KEL	7	142638384	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	790	142638384	16500279	655	21249											
KEL	3792	broad.mit.edu	37	chr7	142643397	142643397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacttcatccatcgtgggCgggcaggctatggagacaaa	13	11	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:142643397C>T	uc003wcb.2	-	11	1421	c.1211G>A	c.(1210-1212)CGC>CAC	p.R404H		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	404	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)					CCATCGTGGGCGGGCAGGCTA	0.567													T	142643397	C	T	142643397	3	4	23	1	0	0	0	0	1	0	0	0	8142	768	27	1	1023	1	KEL	7	142643397	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	5013	142643397	16495266	656	21250											
GIMAP8	155038	broad.mit.edu	37	chr7	150174435	150174435	+	Frame_Shift_Del	DEL	A	A	-													gcgctgtttgtcctgctgtgAaaaaggggacacattttttg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:150174435delA	uc003whj.2	+	5	1895	c.1565delA	c.(1564-1566)GAAfs	p.E522fs		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	522						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TCCTGCTGTGAAAAAGGGGAC	0.517													-	150174435	A	-	150174435	7	5	23	1	0	1	0	1	0	0	0	0	6385	246	9	0	1579	0	GIMAP8	7	150174435	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	7531038	150174435	8964228	657	21251											
CHPF2	54480	broad.mit.edu	37	chr7	150935717	150935717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggggctagggggccgtGcccagctggctatggctctc	18	11	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:150935717G>A	uc003wjr.1	+	4	3782	c.2269G>A	c.(2269-2271)GCC>ACC	p.A757T	CHPF2_uc003wjq.1_Missense_Mutation_p.A749T	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	757	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1						AGGGGGCCGTGCCCAGCTGGC	0.622													A	150935717	G	A	150935717	3	1	23	1	0	0	0	0	1	0	0	0	3369	1319	46	2	2283	2	CHPF2	7	150935717	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	761282	150935717	8202946	658	21252											
PRKAG2	51422	broad.mit.edu	37	chr7	151372719	151372719	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggagaggaggagaggccGgaggctgcagaagaaacacc	18	8	0	4	rs141804012		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:151372719G>A	uc003wkk.2	-	4	1082	c.471C>T	c.(469-471)TCC>TCT	p.S157S	PRKAG2_uc011kvl.1_Silent_p.S33S|PRKAG2_uc003wkj.2_Silent_p.S113S|PRKAG2_uc010lqe.1_RNA|PRKAG2_uc003wkm.1_Silent_p.S157S	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	AMP-activated protein kinase gamma2 subunit	157					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(1)|kidney(1)	2	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		AGGAGAGGCCGGAGGCTGCAG	0.592													A	151372719	G	A	151372719	2	1	23	1	0	0	0	0	0	0	0	1	12501	1103	39	1		1	PRKAG2	7	151372719	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	437002	151372719	7765944	659	21253											
MLL3	58508	broad.mit.edu	37	chr7	151845959	151845959	+	Frame_Shift_Del	DEL	T	T	-													ttccatttcattcctctccaTtttttattgagcggcctgca							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:151845959delT	uc003wla.2	-	52	13272	c.13053delA	c.(13051-13053)AAAfs	p.K4351fs	MLL3_uc003wkz.2_Frame_Shift_Del_p.K3469fs|MLL3_uc003wkx.2_Frame_Shift_Del_p.K509fs|MLL3_uc003wky.2_Frame_Shift_Del_p.K1915fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4351					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTCCTCTCCATTTTTTATTGA	0.443			N		medulloblastoma								-	151845959	T	-	151845959	7	5	23	1	0	1	0	1	0	0	0	0	9622	1490	52	0	1714	0	MLL3	7	151845959	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	473240	151845959	7292704	660	21254											
PTPRN2	5799	broad.mit.edu	37	chr7	157959937	157959937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggtaggtcagcgcagacGtgtgggccacataggtcagg	18	8	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:157959937G>A	uc003wno.2	-	6	717	c.596C>T	c.(595-597)ACG>ATG	p.T199M	PTPRN2_uc003wnp.2_Missense_Mutation_p.T182M|PTPRN2_uc003wnq.2_Missense_Mutation_p.T199M|PTPRN2_uc003wnr.2_Missense_Mutation_p.T161M|PTPRN2_uc011kwa.1_Missense_Mutation_p.T222M	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	199	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CAGCGCAGACGTGTGGGCCAC	0.622													A	157959937	G	A	157959937	3	1	23	1	0	0	0	0	1	0	0	0	12808	1145	40	1	2523	1	PTPRN2	7	157959937	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	6113978	157959937	1178726	661	21255											
MYOM2	9172	broad.mit.edu	37	chr8	2044088	2044088	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggttgtgcttccttgcagcCgtcccgtcccatccttatgg	10	14	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:2044088C>A	uc003wpx.3	+	18	2265	c.2127C>A	c.(2125-2127)ACC>ACA	p.T709T	MYOM2_uc011kwi.1_Silent_p.T134T	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	709					muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCCTTGCAGCCGTCCCGTCCC	0.622													A	2044088	C	A	2044088	2	1	23	1	0	0	0	0	0	0	0	1	10092	666	23	5		5	MYOM2	8	2044088	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08		2044088	144319934	662	21256											
CSMD1	64478	broad.mit.edu	37	chr8	2796120	2796120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgagggctataccactgtaCagactgtgttcagagttgtg	12	8	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:2796120C>A	uc011kwk.1	-	70	11075	c.10685G>T	c.(10684-10686)TGT>TTT	p.C3562F	CSMD1_uc011kwj.1_Missense_Mutation_p.C2876F|CSMD1_uc010lrg.2_Missense_Mutation_p.C1453F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3562	Cytoplasmic (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TACCACTGTACAGACTGTGTT	0.463													A	2796120	C	A	2796120	3	1	23	1	0	0	0	0	1	0	0	0	3944	478	17	5	16	5	CSMD1	8	2796120	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	752032	2796120	143567902	663	21257											
CSMD1	64478	broad.mit.edu	37	chr8	2857552	2857552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggaagttcccacaagccGgaaaccaggattgcactggt	11	12	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:2857552G>A	uc011kwk.1	-	53	8524	c.8134C>T	c.(8134-8136)CGG>TGG	p.R2712W	CSMD1_uc011kwj.1_Missense_Mutation_p.R2041W|CSMD1_uc010lrg.2_Missense_Mutation_p.R722W	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2712	Extracellular (Potential).|Sushi 18.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCACAAGCCGGAAACCAGGA	0.527													A	2857552	G	A	2857552	3	1	23	1	0	0	0	0	1	0	0	0	3944	1115	39	1	2635	1	CSMD1	8	2857552	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	61432	2857552	143506470	664	21258											
CSMD1	64478	broad.mit.edu	37	chr8	3216699	3216699	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caccttggcagaggtgcactCcacacacggcggcccccacc	10	19	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:3216699C>A	uc011kwk.1	-	21	3672	c.3282G>T	c.(3280-3282)TGG>TGT	p.W1094C	CSMD1_uc011kwj.1_Missense_Mutation_p.W486C|CSMD1_uc003wqe.2_Missense_Mutation_p.W250C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1094	Sushi 6.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAGGTGCACTCCACACACGGC	0.572													A	3216699	C	A	3216699	3	1	23	1	0	0	0	0	1	0	0	0	3944	856	30	5	7615	5	CSMD1	8	3216699	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	359147	3216699	143147323	665	21259											
ANGPT2	285	broad.mit.edu	37	chr8	6372237	6372237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctctgaaaatcaacgctGccatcctcacgtcgctgaat	7	14	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:6372237G>A	uc003wqj.3	-	6	1322	c.993C>T	c.(991-993)GGC>GGT	p.G331G	MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Silent_p.G330G|ANGPT2_uc010lri.2_Silent_p.G279G|ANGPT2_uc003wql.3_Silent_p.G330G	NM_001147	NP_001138	O15123	ANGP2_HUMAN	angiopoietin 2 isoform a precursor	331	Fibrinogen C-terminal.				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			upper_aerodigestive_tract(1)	1		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		AATCAACGCTGCCATCCTCAC	0.448													A	6372237	G	A	6372237	2	1	23	1	0	0	0	0	0	0	0	1	611	1306	46	2		2	ANGPT2	8	6372237	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3155538	6372237	139991785	666	21260											
PRSS55	203074	broad.mit.edu	37	chr8	10389018	10389018	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggccctgccacatggcgCgaatgctgggtggcaggttg	16	13	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:10389018C>T	uc003wta.2	+	3	576	c.561C>T	c.(559-561)CGC>CGT	p.R187R	uc010lru.2_Intron|PRSS55_uc003wtb.2_RNA	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	hypothetical protein LOC203074 precursor	187	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			ovary(1)	1						CCACATGGCGCGAATGCTGGG	0.602													T	10389018	C	T	10389018	2	4	23	1	0	0	0	0	0	0	0	1	12634	755	27	1		1	PRSS55	8	10389018	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	4016781	10389018	135975004	667	21261											
AMAC1L2	83650	broad.mit.edu	37	chr8	11188883	11188883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccctgctacttaaactgCgtggcgacccccttctggga	10	14	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:11188883C>T	uc003wtp.1	+	1	389	c.268C>T	c.(268-270)CGT>TGT	p.R90C		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	acyl-malonyl condensing enzyme	90	DUF6 1.					integral to membrane					0			STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)		ACTTAAACTGCGTGGCGACCC	0.582													T	11188883	C	T	11188883	3	4	23	1	0	0	0	0	1	0	0	0	560	768	27	1	270	1	AMAC1L2	8	11188883	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	799865	11188883	135175139	668	21262											
MTUS1	57509	broad.mit.edu	37	chr8	17542025	17542025	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggctggatacataagcttcGaggattcttttgcctgctct	10	9	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:17542025G>A	uc003wxv.2	-	7	3124	c.2650C>T	c.(2650-2652)CGA>TGA	p.R884*	MTUS1_uc003wxt.2_Nonsense_Mutation_p.R131*|MTUS1_uc011kyg.1_Nonsense_Mutation_p.R29*|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Nonsense_Mutation_p.R830*|MTUS1_uc003wxs.2_Nonsense_Mutation_p.R50*|hsa-mir-548v|MI0014174_5'Flank	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	884						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		CATAAGCTTCGAGGATTCTTT	0.398													A	17542025	G	A	17542025	4	1	23	1	0	0	0	0	0	1	0	0	9965	1066	37	1	1198	1	MTUS1	8	17542025	Nonsense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	6353142	17542025	128821997	669	21263											
NAT1	9	broad.mit.edu	37	chr8	18079720	18079720	+	Frame_Shift_Del	DEL	T	T	-													ggacttaggcttagaggccaTttttgatcaagttgtgagaa							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:18079719_18079719AT>A	uc010ltd.3	+	4	530	c.163_163AT>A	c.(163-165)attfs	p.I55fs	NAT1_uc003wyt.3_Frame_Shift_Del_p.I117fs|NAT1_uc003wyu.3_Frame_Shift_Del_p.I55fs|NAT1_uc003wyv.3_Frame_Shift_Del_p.I55fs|NAT1_uc010ltc.3_Frame_Shift_Del_p.I55fs|NAT1_uc003wys.3_Frame_Shift_Del_p.I117fs|NAT1_uc003wyr.3_Frame_Shift_Del_p.I55fs|NAT1_uc003wyq.3_Frame_Shift_Del_p.I55fs|NAT1_uc011kyl.2_Frame_Shift_Del_p.I55fs	NM_001160179	NP_001153651	P18440	ARY1_HUMAN	Homo sapiens N-acetyltransferase 1 (arylamine N-acetyltransferase) (NAT1), transcript variant 9, mRNA.	55					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		CTTAGAGGCCATTTTTGATCA	0.458													-	18079720	T	-	18079720	7	5	23	1	0	1	0	1	0	0	0	0	10173	1493	52	0	360	0	NAT1	8	18079720	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	537695	18079720	128284302	670	21264											
GFRA2	2675	broad.mit.edu	37	chr8	21608373	21608373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggagcgcagcttcttgCagttgtcattcaggttgcag	14	8	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:21608373C>T	uc003wzu.1	-	4	1196	c.521G>A	c.(520-522)TGC>TAC	p.C174Y	GFRA2_uc003wzv.1_Missense_Mutation_p.C69Y|GFRA2_uc003wzw.1_Missense_Mutation_p.C41Y|DOK2_uc003wzx.1_Intron	NM_001495	NP_001486	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2 isoform a	174						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity				0				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		CAGCTTCTTGCAGTTGTCATT	0.617													T	21608373	C	T	21608373	3	4	23	1	0	0	0	0	1	0	0	0	6348	710	25	2	897	2	GFRA2	8	21608373	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3528653	21608373	124755649	671	21265											
XPO7	23039	broad.mit.edu	37	chr8	21839264	21839264	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttatcagacccaaacaattAccatgagttttgcagactac	5	10	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:21839264A>G	uc003xaa.3	+	10	1082	c.980A>G	c.(979-981)TAC>TGC	p.Y327C	XPO7_uc010lti.2_Missense_Mutation_p.Y336C|XPO7_uc010ltk.2_Missense_Mutation_p.Y328C	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	327				Missing (in Ref. 3; BAA34465).	mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CCAAACAATTACCATGAGTTT	0.403													G	21839264	A	G	21839264	3	3	23	1	0	0	0	0	1	0	0	0	17446	391	14	3	1070	3	XPO7	8	21839264	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	230891	21839264	124524758	672	21266											
BMP1	649	broad.mit.edu	37	chr8	22051620	22051620	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctatcgtctccactgacagCcgcctctgggttgaattccg	9	15	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:22051620C>T	uc003xbg.2	+	10	1474	c.1230C>T	c.(1228-1230)AGC>AGT	p.S410S	BMP1_uc003xba.2_Silent_p.S410S|BMP1_uc003xbb.2_Silent_p.S410S|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Silent_p.S159S|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Silent_p.S159S|BMP1_uc011kzc.1_Silent_p.S159S|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	410	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCACTGACAGCCGCCTCTGGG	0.592													T	22051620	C	T	22051620	2	4	23	1	0	0	0	0	0	0	0	1	1456	738	26	2		2	BMP1	8	22051620	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	212356	22051620	124312402	673	21267											
BMP1	649	broad.mit.edu	37	chr8	22052262	22052262	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgccacgacagctgtgcctAcgactatctggaggtgcgcg	14	13	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:22052262A>G	uc003xbg.2	+	12	1713	c.1469A>G	c.(1468-1470)TAC>TGC	p.Y490C	BMP1_uc003xba.2_Missense_Mutation_p.Y490C|BMP1_uc003xbb.2_Missense_Mutation_p.Y490C|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Missense_Mutation_p.Y239C|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Missense_Mutation_p.Y239C|BMP1_uc011kzc.1_Missense_Mutation_p.Y239C|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	490	CUB 2.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGCTGTGCCTACGACTATCTG	0.612													G	22052262	A	G	22052262	3	3	23	1	0	0	0	0	1	0	0	0	1456	391	14	3	1515	3	BMP1	8	22052262	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	642	22052262	124311760	674	21268											
SLC39A14	23516	broad.mit.edu	37	chr8	22273344	22273344	+	Frame_Shift_Del	DEL	G	G	-													tccaagaaggaccaggaggaGggggtgatggagaagctgca							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:22273343_22273343AG>A	uc003xbq.4	+	5	987	c.812_812AG>A	c.(811-813)gagfs	p.E271fs	SLC39A14_uc011kzg.2_Frame_Shift_Del_p.E271fs|SLC39A14_uc003xbp.4_Frame_Shift_Del_p.E271fs|SLC39A14_uc011kzh.2_Frame_Shift_Del_p.E271fs	NM_001128431	NP_001128625	Q15043	S39AE_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 14 (SLC39A14), transcript variant 1, mRNA.	271						Golgi apparatus|endoplasmic reticulum|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GACCAGGAGGAGGGGGTGATG	0.582													-	22273344	G	-	22273344	7	5	23	1	0	1	0	1	0	0	0	0	14617	991	35	0	1005	0	SLC39A14	8	22273344	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	221082	22273344	124090678	675	21269											
BIN3	55909	broad.mit.edu	37	chr8	22488003	22488003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatggccgtgtccagggcCgtcaccatgttcagaaggtc	12	12	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:22488003C>T	uc003xcl.2	-	5	346	c.249G>A	c.(247-249)ACG>ACA	p.T83T	BIN3_uc003xck.2_Silent_p.T35T|BIN3_uc010ltw.2_Silent_p.T29T	NM_018688	NP_061158	Q9NQY0	BIN3_HUMAN	bridging integrator 3	83	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity				0		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		TGTCCAGGGCCGTCACCATGT	0.552													T	22488003	C	T	22488003	2	4	23	1	0	0	0	0	0	0	0	1	1434	639	23	1		1	BIN3	8	22488003	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	214659	22488003	123876019	676	21270											
RHOBTB2	23221	broad.mit.edu	37	chr8	22862133	22862133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgaccaatatcgtgtgtgCcaggaggtaaggctgcagga	14	8	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:22862133C>T	uc003xcq.2	+	2	723	c.186C>T	c.(184-186)TGC>TGT	p.C62C	RHOBTB2_uc003xcp.2_Silent_p.C84C|RHOBTB2_uc011kzp.1_Silent_p.C69C	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	62	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		ATCGTGTGTGCCAGGAGGTAA	0.622											OREG0018628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	22862133	C	T	22862133	2	4	23	1	0	0	0	0	0	0	0	1	13334	747	26	2		2	RHOBTB2	8	22862133	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	374130	22862133	123501889	677	21271											
RHOBTB2	23221	broad.mit.edu	37	chr8	22865598	22865598	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggctgccatgtttggggggCcatttgtggagagctccacc	15	10	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:22865598C>G	uc003xcq.2	+	6	2131	c.1594C>G	c.(1594-1596)CCA>GCA	p.P532A	RHOBTB2_uc003xcp.2_Missense_Mutation_p.P554A|RHOBTB2_uc011kzp.1_Missense_Mutation_p.P539A|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	532	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GTTTGGGGGGCCATTTGTGGA	0.567													G	22865598	C	G	22865598	3	3	23	1	0	0	0	0	1	0	0	0	13334	739	26	5	1697	5	RHOBTB2	8	22865598	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3465	22865598	123498424	678	21272											
CHMP7	91782	broad.mit.edu	37	chr8	23106785	23106785	+	Frame_Shift_Del	DEL	G	G	-													agacagcagctggatctcctGgggggttggggtcttcctgc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:23106784_23106784TG>T	uc003xdc.2	+	2	1009	c.361_361TG>T	c.(361-363)tggfs	p.W121fs	CHMP7_uc011kzs.1_Intron|CHMP7_uc003xdd.2_Frame_Shift_Del_p.W11fs	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	Homo sapiens charged multivesicular body protein 7 (CHMP7), mRNA.	121					cellular membrane organization|late endosome to vacuole transport	ESCRT III complex|cytosol	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CTGGATCTCCTGGGGGGTTGG	0.542													-	23106785	G	-	23106785	7	5	23	1	0	1	0	1	0	0	0	0	3361	1357	47	0	368	0	CHMP7	8	23106785	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	241187	23106785	123257237	679	21273											
LOXL2	4017	broad.mit.edu	37	chr8	23191025	23191025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcaggtgacattcttcatGgggtccagtgacacctgggg	14	10	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:23191025G>A	uc003xdh.1	-	5	1194	c.855C>T	c.(853-855)CCC>CCT	p.P285P	uc003xdj.2_5'Flank|uc003xdi.2_5'Flank	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	285	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CATTCTTCATGGGGTCCAGTG	0.617													A	23191025	G	A	23191025	2	1	23	1	0	0	0	0	0	0	0	1	8900	1335	47	4		4	LOXL2	8	23191025	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	84240	23191025	123172997	680	21274											
SLC25A37	51312	broad.mit.edu	37	chr8	23429231	23429231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacggtgtaccagctcaacGgcctggccggctacttcaaa	12	13	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:23429231G>A	uc003xdo.2	+	4	1033	c.880G>A	c.(880-882)GGC>AGC	p.G294S	SLC25A37_uc003xdp.2_RNA|SLC25A37_uc010ltz.2_RNA|SLC25A37_uc003xdq.2_RNA|uc003xds.2_5'Flank	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25, member 37	294	Solcar 3.				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CCAGCTCAACGGCCTGGCCGG	0.577													A	23429231	G	A	23429231	3	1	23	1	0	0	0	0	1	0	0	0	14501	1116	39	1	894	1	SLC25A37	8	23429231	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	238206	23429231	122934791	681	21275											
ADAM28	10863	broad.mit.edu	37	chr8	24167473	24167474	+	Frame_Shift_Ins	INS	-	-	A													aattgcagtgctttatttgaINSaaaaaaacaagtaagtatct							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:24167472_24167473G>GA	uc003xdy.3	+	2	299_300	c.216_217G>GA	c.(214-219)ttgaaafs	p.L72fs	ADAM28_uc003xdx.3_Frame_Shift_Ins_p.L72fs|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	72					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGCTTTATTTGAAAAAAAACAA	0.332													A	24167474	-	A	24167473	7	5	23	1	0	1	1	0	0	0	0	0	246	247	9	0	227	0	ADAM28	8	24167473	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	738242	24167473	122196549	682	21276											
ADAM7	8756	broad.mit.edu	37	chr8	24321458	24321458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggagaagcgttcaccagGcatcctcagatcatggtatc	10	10	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:24321458G>A	uc003xeb.2	+	4	410	c.297G>A	c.(295-297)AGG>AGA	p.R99R	ADAM7_uc003xea.1_Silent_p.R99R	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	99	Extracellular (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)		CGTTCACCAGGCATCCTCAGA	0.428													A	24321458	G	A	24321458	2	1	23	1	0	0	0	0	0	0	0	1	251	1194	42	2		2	ADAM7	8	24321458	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	153985	24321458	122042564	683	21277											
KCTD9	54793	broad.mit.edu	37	chr8	25287444	25287445	+	Frame_Shift_Del	DEL	CT	CT	-													agctcccttcacgttggaccCtctcaggttggcttcttgaa							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:25287443_25287444CCT>C	uc003xeo.3	-	11	1321_1322	c.1099_1100AGG>G	c.(1099-1101)gggfs	p.G367fs	DOCK5_uc003xek.3_Intron|KCTD9_uc011lad.2_Non-coding_Transcript	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 9 (KCTD9), mRNA.	367	Pentapeptide repeat 3.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		CACGTTGGACCCTCTCAGGTTG	0.411													-	25287445	CT	-	25287444	7	5	23	1	0	1	0	1	0	0	0	0	8116	681	24	0	74	0	KCTD9	8	25287444	Frame_Shift_Del	DEL	CT	TCGA-BR-4368-01A-01D-1158-08	965986	25287444	121076578	684	21278											
EBF2	64641	broad.mit.edu	37	chr8	25708244	25708244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggaggatggaggatgtgCtggaagacccaacggtggga	19	5	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:25708244C>T	uc003xes.1	-	15	1579	c.1562G>A	c.(1561-1563)AGC>AAC	p.S521N	PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	521	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GGAGGATGTGCTGGAAGACCC	0.443													T	25708244	C	T	25708244	3	4	23	1	0	0	0	0	1	0	0	0	4881	797	28	2	173	2	EBF2	8	25708244	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	420800	25708244	120655778	685	21279											
SCARA3	51435	broad.mit.edu	37	chr8	27507225	27507225	+	Missense_Mutation	SNP	C	C	T													tggcttcattatagtgaggtCggccggcggcgatggagatg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:27507225C>T	uc003xga.1	+	2	155	c.14C>T	c.(13-15)TCG>TTG	p.S5L	SCARA3_uc003xgb.1_Missense_Mutation_p.S5L	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	5	Cytoplasmic (Potential).				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity	p.S5L(1)		skin(2)|ovary(1)|breast(1)	4		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		ATAGTGAGGTCGGCCGGCGGC	0.592													T	27507225	C	T	27507225	3	4	23	1	0	0	0	0	1	0	0	0	13879	893	31	1	20	1	SCARA3	8	27507225	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1798981	27507225	118856797	686	21280	75	2									
SCARA3	51435	broad.mit.edu	37	chr8	27507232	27507232	+	Silent	SNP	C	C	T													attatagtgaggtcggccggCggcgatggagatgccttgtg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:27507232C>T	uc003xga.1	+	2	162	c.21C>T	c.(19-21)GGC>GGT	p.G7G	SCARA3_uc003xgb.1_Silent_p.G7G	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	7	Cytoplasmic (Potential).				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			skin(2)|ovary(1)|breast(1)	4		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GGTCGGCCGGCGGCGATGGAG	0.592													T	27507232	C	T	27507232	2	4	23	1	0	0	0	0	0	0	0	1	13879	755	27	1		1	SCARA3	8	27507232	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	7	27507232	118856790	687	21281	75	2									
MAK16	84549	broad.mit.edu	37	chr8	33354189	33354189	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgccttcgacaaagcccTggaacaacaggaggcagaga	11	11	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:33354189T>C	uc003xjj.2	+	8	609	c.569T>C	c.(568-570)CTG>CCG	p.L190P	C8orf41_uc010lvu.1_Intron	NM_032509	NP_115898	Q9BXY0	MAK16_HUMAN	MAK16 homolog	190						nucleolus				ovary(1)	1						GACAAAGCCCTGGAACAACAG	0.363													C	33354189	T	C	33354189	3	2	23	1	0	0	0	0	1	0	0	0	9198	1580	55	3	599	3	MAK16	8	33354189	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	5846957	33354189	113009833	688	21282											
UNC5D	137970	broad.mit.edu	37	chr8	35624428	35624428	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcccctgcaggaagtcccGttctcccgcgtgtggtgcag	12	15	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:35624428G>A	uc003xjr.1	+	15	2650	c.2322G>A	c.(2320-2322)CCG>CCA	p.P774P	UNC5D_uc003xjs.1_Silent_p.P769P|UNC5D_uc003xju.1_Silent_p.P350P	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	774	Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGGAAGTCCCGTTCTCCCGCG	0.527													A	35624428	G	A	35624428	2	1	23	1	0	0	0	0	0	0	0	1	16992	1132	40	1		1	UNC5D	8	35624428	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2270239	35624428	110739594	689	21283											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37756850	37756850	+	Frame_Shift_Del	DEL	C	C	-													ccgcgtacgcgtcgctcgtgCccccggggcccttggcccgc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:37756849_37756849GC>G	uc003xkm.2	-	0	167	c.111_111GC>C	c.(109-111)ggcfs	p.G37fs	RAB11FIP1_uc003xkn.2_Frame_Shift_Del_p.G37fs	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	37	C2.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	p.T38fs*90(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CGTCGCTCGTGCCCCCGGGGC	0.751													-	37756850	C	-	37756850	7	5	23	1	0	1	0	1	0	0	0	0	12893	739	26	0	3765	0	RAB11FIP1	8	37756850	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	2132422	37756850	108607172	690	21284											
ASH2L	9070	broad.mit.edu	37	chr8	37986420	37986420	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggattttatattaatcttcCtgaagacacagagacagcca	8	8	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:37986420C>A	uc003xkt.3	+	12	1536	c.1478C>A	c.(1477-1479)CCT>CAT	p.P493H	ASH2L_uc011lbk.1_Missense_Mutation_p.P354H|ASH2L_uc003xku.3_Missense_Mutation_p.P399H|ASH2L_uc010lwa.2_Missense_Mutation_p.P399H	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	ash2-like isoform a	493	B30.2/SPRY.				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				ATTAATCTTCCTGAAGACACA	0.493													A	37986420	C	A	37986420	3	1	23	1	0	0	0	0	1	0	0	0	1042	681	24	5	1524	5	ASH2L	8	37986420	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	229570	37986420	108377602	691	21285											
LSM1	27257	broad.mit.edu	37	chr8	38027335	38027335	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttactatttctcctagtagGaccacattttctcctctgac	4	13	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:38027335G>A	uc003xkw.2	-	3	404	c.216C>T	c.(214-216)GTC>GTT	p.V72V	LSM1_uc003xkx.2_RNA	NM_014462	NP_055277	O15116	LSM1_HUMAN	Lsm1 protein	72					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding				0	Colorectal(12;0.000442)					CTCCTAGTAGGACCACATTTT	0.363													A	38027335	G	A	38027335	2	1	23	1	0	0	0	0	0	0	0	1	9050	1161	41	4		4	LSM1	8	38027335	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	40915	38027335	108336687	692	21286											
CHRNB3	1142	broad.mit.edu	37	chr8	42587571	42587571	+	Frame_Shift_Del	DEL	A	A	-													agtgaaaggcaaagtcctcgAaaaaaagaaacagaaacagc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:42587570_42587570GA>G	uc003xpi.1	+	4	1248	c.1120_1120GA>G	c.(1120-1122)gaafs	p.E374fs		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	374					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CAAAGTCCTCGAAAAAAAGAA	0.388													-	42587571	A	-	42587571	7	5	23	1	0	1	0	1	0	0	0	0	3392	246	9	0	1139	0	CHRNB3	8	42587571	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	4560236	42587571	103776451	693	21287											
CHRNA6	8973	broad.mit.edu	37	chr8	42611455	42611455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgggaccaccagagatGtggatgggatggtttctgtg	16	7	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:42611455G>A	uc003xpj.2	-	5	933	c.887C>T	c.(886-888)ACA>ATA	p.T296I	CHRNA6_uc011lcw.1_Missense_Mutation_p.T281I	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	296						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CACCAGAGATGTGGATGGGAT	0.473													A	42611455	G	A	42611455	3	1	23	1	0	0	0	0	1	0	0	0	3387	1377	48	4	605	4	CHRNA6	8	42611455	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	23884	42611455	103752567	694	21288											
MCM4	4173	broad.mit.edu	37	chr8	48878843	48878843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccagtgccaagtgtgtgCccacacgacccgggtggaga	13	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:48878843C>T	uc003xqk.1	+	9	1024	c.929C>T	c.(928-930)GCC>GTC	p.A310V	MCM4_uc003xql.1_Missense_Mutation_p.A310V|MCM4_uc011ldi.1_Missense_Mutation_p.A297V	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	310					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CAAGTGTGTGCCCACACGACC	0.617													T	48878843	C	T	48878843	3	4	23	1	0	0	0	0	1	0	0	0	9389	739	26	2	959	2	MCM4	8	48878843	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	6267388	48878843	97485179	695	21289											
SNAI2	6591	broad.mit.edu	37	chr8	49831507	49831507	+	Frame_Shift_Del	DEL	A	A	-													ctcagatttgacctgtctgcAaatgctctgttgcagtgagg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:49831506_49831506CA>C	uc003xqp.3	-	2	842	c.667_667TG>G	c.(667-669)gcafs	p.A223fs		NM_003068	NP_003059	O43623	SNAI2_HUMAN	Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.	223					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GACCTGTCTGCAAATGCTCTG	0.448													-	49831507	A	-	49831507	7	5	23	1	0	1	0	1	0	0	0	0	14827	127	5	0	144	0	SNAI2	8	49831507	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	952664	49831507	96532515	696	21290											
PXDNL	137902	broad.mit.edu	37	chr8	52321490	52321490	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctccgagctcccgtaaacGttggagccatcgatgtaggc	12	13	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:52321490G>A	uc003xqu.3	-	17	2795	c.2694C>T	c.(2692-2694)AAC>AAT	p.N898N	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	898					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCCCGTAAACGTTGGAGCCAT	0.622													A	52321490	G	A	52321490	2	1	23	1	0	0	0	0	0	0	0	1	12848	1136	40	1		1	PXDNL	8	52321490	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2489983	52321490	94042532	697	21291											
ST18	9705	broad.mit.edu	37	chr8	53079492	53079492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgtcacgtgtcccgtgCcatcacatccagggatcggg	12	15	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:53079492C>T	uc003xqz.2	-	6	1280	c.1124G>A	c.(1123-1125)GGC>GAC	p.G375D	ST18_uc011ldq.1_Missense_Mutation_p.G22D|ST18_uc011ldr.1_Missense_Mutation_p.G340D|ST18_uc011lds.1_Missense_Mutation_p.G280D|ST18_uc003xra.2_Missense_Mutation_p.G375D|ST18_uc003xrb.2_Missense_Mutation_p.G375D	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	375	C2HC-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GTGTCCCGTGCCATCACATCC	0.537													T	53079492	C	T	53079492	3	4	23	1	0	0	0	0	1	0	0	0	15211	739	26	2	2083	2	ST18	8	53079492	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	758002	53079492	93284530	698	21292											
RP1	6101	broad.mit.edu	37	chr8	55533959	55533959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccccaccccgtagccgtcGctgctcccggcatgccccgc	10	23	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:55533959G>A	uc003xsd.1	+	2	581	c.433G>A	c.(433-435)GCT>ACT	p.A145T	RP1_uc011ldy.1_Missense_Mutation_p.A145T	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	145					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CGTAGCCGTCGCTGCTCCCGG	0.701													A	55533959	G	A	55533959	3	1	23	1	0	0	0	0	1	0	0	0	13532	1087	38	1	435	1	RP1	8	55533959	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2454467	55533959	90830063	699	21293											
RP1	6101	broad.mit.edu	37	chr8	55534032	55534032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacccgaagacgaggcgtgCggttcttctgagcaggaggg	17	10	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:55534032C>T	uc003xsd.1	+	2	654	c.506C>T	c.(505-507)GCG>GTG	p.A169V	RP1_uc011ldy.1_Missense_Mutation_p.A169V	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	169	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACGAGGCGTGCGGTTCTTCTG	0.647													T	55534032	C	T	55534032	3	4	23	1	0	0	0	0	1	0	0	0	13532	768	27	1	508	1	RP1	8	55534032	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	73	55534032	90829990	700	21294											
RP1	6101	broad.mit.edu	37	chr8	55539295	55539295	+	Frame_Shift_Del	DEL	T	T	-													gtaaattgtagcaataatagTttttcagggaatgatcccca							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:55539294_55539294GT>G	uc003xsd.1	+	3	3000	c.2852_2852GT>G	c.(2851-2853)agtfs	p.S951fs	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	951					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGCAATAATAGTTTTTCAGGG	0.328													-	55539295	T	-	55539295	7	5	23	1	0	1	0	1	0	0	0	0	13532	1722	60	0	2863	0	RP1	8	55539295	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	5263	55539295	90824727	701	21295											
TGS1	96764	broad.mit.edu	37	chr8	56698411	56698411	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgagaagtatgggattgccActtcaatttggtaggataac	11	5	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:56698411A>G	uc003xsj.3	+	3	687	c.300A>G	c.(298-300)CCA>CCG	p.P100P	TGS1_uc010lyh.2_Silent_p.P4P	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase homolog	100					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			ovary(1)|lung(1)|breast(1)	3		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TGGGATTGCCACTTCAATTTG	0.363													G	56698411	A	G	56698411	2	3	23	1	0	0	0	0	0	0	0	1	15834	146	6	3		3	TGS1	8	56698411	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	1159116	56698411	89665611	702	21296											
PLAG1	5324	broad.mit.edu	37	chr8	57079754	57079754	+	Frame_Shift_Del	DEL	T	T	-													cacaatgttcgcactggtgcTttttttctttaaccccacca					rs141930943		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:57079753_57079753CT>C	uc003xsq.4	-	2	1003	c.552_552AG>G	c.(550-552)aagfs	p.K184fs	PLAG1_uc003xsr.4_Frame_Shift_Del_p.K184fs|PLAG1_uc010lyi.3_Frame_Shift_Del_p.K184fs|PLAG1_uc010lyj.3_Frame_Shift_Del_p.K102fs|PLAG1_uc022aur.1_Frame_Shift_Del_p.K102fs	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	184	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CGCACTGGTGCTTTTTTTCTT	0.483			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma								-	57079754	T	-	57079754	7	5	23	1	0	1	0	1	0	0	0	0	12018	1609	56	0	955	0	PLAG1	8	57079754	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	381343	57079754	89284268	703	21297											
CYP7B1	9420	broad.mit.edu	37	chr8	65528501	65528501	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgtcacaaacaataacTtttccatatatagttgtaaa	4	6	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:65528501T>C	uc003xvj.2	-	3	801	c.597A>G	c.(595-597)AAA>AAG	p.K199K		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	199					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AAACAATAACTTTTCCATATA	0.328													C	65528501	T	C	65528501	2	2	23	1	0	0	0	0	0	0	0	1	4197	1606	56	3		3	CYP7B1	8	65528501	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	8448747	65528501	80835521	704	21298											
ADHFE1	137872	broad.mit.edu	37	chr8	67361171	67361171	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccctccacatgcctgccCgagtggtcgccaacagtggc	10	17	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:67361171C>T	uc003xwb.3	+	8	734	c.700C>T	c.(700-702)CGA>TGA	p.R234*	ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Nonsense_Mutation_p.R186*|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_RNA|ADHFE1_uc011les.1_Nonsense_Mutation_p.R164*|ADHFE1_uc011leq.1_RNA|ADHFE1_uc011ler.1_RNA	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	234					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CATGCCTGCCCGAGTGGTCGC	0.498													T	67361171	C	T	67361171	4	4	23	1	0	0	0	0	0	1	0	0	314	644	23	1	730	1	ADHFE1	8	67361171	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1832670	67361171	79002851	705	21299											
PREX2	80243	broad.mit.edu	37	chr8	68956736	68956736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaagacggttgaagaacaGcaaggcatctacagatggac	11	8	1	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:68956736G>A	uc003xxv.1	+	8	881	c.854G>A	c.(853-855)AGC>AAC	p.S285N	PREX2_uc003xxu.1_Missense_Mutation_p.S285N|PREX2_uc011lez.1_Missense_Mutation_p.S220N	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	285	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						TTGAAGAACAGCAAGGCATCT	0.388													A	68956736	G	A	68956736	3	1	23	1	0	0	0	0	1	0	0	0	12477	971	34	2	884	2	PREX2	8	68956736	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1595565	68956736	77407286	706	21300											
SULF1	23213	broad.mit.edu	37	chr8	70541824	70541824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagaggaaggagaagagaCggcagaggaagggggaagag	22	2	0	5			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:70541824C>T	uc010lza.1	+	19	2911	c.2194C>T	c.(2194-2196)CGG>TGG	p.R732W	SULF1_uc003xyd.2_Missense_Mutation_p.R732W|SULF1_uc003xye.2_Missense_Mutation_p.R732W|SULF1_uc003xyf.2_Missense_Mutation_p.R732W|SULF1_uc003xyg.2_Missense_Mutation_p.R732W|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_Translation_Start_Site	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	732					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GGAGAAGAGACGGCAGAGGAA	0.537													T	70541824	C	T	70541824	3	4	23	1	0	0	0	0	1	0	0	0	15369	527	19	1	2252	1	SULF1	8	70541824	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1585088	70541824	75822198	707	21301											
XKR9	389668	broad.mit.edu	37	chr8	71646272	71646272	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttgttaggtataatatgGgcatttaaaaacaacaccca	8	6	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:71646272G>A	uc003xyq.2	+	5	1269	c.735G>A	c.(733-735)TGG>TGA	p.W245*	XKR9_uc010lze.2_Nonsense_Mutation_p.W245*|XKR9_uc010lzd.2_Nonsense_Mutation_p.W113*	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related	245						integral to membrane				ovary(1)|skin(1)	2	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GTATAATATGGGCATTTAAAA	0.274													A	71646272	G	A	71646272	4	1	23	1	0	0	0	0	0	1	0	0	17435	1241	43	4	745	4	XKR9	8	71646272	Nonsense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1104448	71646272	74717750	708	21302											
CRISPLD1	83690	broad.mit.edu	37	chr8	75898440	75898440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaccttcataataaattacGaagtcaggtgtatccaacag	8	8	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:75898440G>A	uc003yan.2	+	2	593	c.218G>A	c.(217-219)CGA>CAA	p.R73Q		NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	73						extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			AATAAATTACGAAGTCAGGTG	0.398													A	75898440	G	A	75898440	3	1	23	1	0	0	0	0	1	0	0	0	3882	1058	37	1	220	1	CRISPLD1	8	75898440	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	4252168	75898440	70465582	709	21303											
ZFHX4	79776	broad.mit.edu	37	chr8	77766151	77766151	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgacttgattacgcatcagAaaaagcagtgttacaaggat	9	6	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:77766151A>G	uc003yav.2	+	10	7246	c.6859A>G	c.(6859-6861)AAA>GAA	p.K2287E	ZFHX4_uc003yau.1_Missense_Mutation_p.K2332E|ZFHX4_uc003yaw.1_Missense_Mutation_p.K2287E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2287	C2H2-type 15; degenerate.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TACGCATCAGAAAAAGCAGTG	0.423										HNSCC(33;0.089)			G	77766151	A	G	77766151	3	3	23	1	0	0	0	0	1	0	0	0	17632	247	9	3	7028	3	ZFHX4	8	77766151	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	1867711	77766151	68597871	710	21304											
PSKH2	85481	broad.mit.edu	37	chr8	87076335	87076335	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccactgcactggtataaggCttccttagcaaaacctcagg	8	12	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:87076335C>A	uc011lfy.1	-	2	711	c.711G>T	c.(709-711)AAG>AAT	p.K237N		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	237	Protein kinase.						ATP binding|protein serine/threonine kinase activity			stomach(2)|lung(2)|ovary(1)	5			STAD - Stomach adenocarcinoma(118;0.129)			TGGTATAAGGCTTCCTTAGCA	0.463													A	87076335	C	A	87076335	3	1	23	1	0	0	0	0	1	0	0	0	12665	796	28	5	452	5	PSKH2	8	87076335	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	9310184	87076335	59287687	711	21305											
DECR1	1666	broad.mit.edu	37	chr8	91013752	91013752	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccagggttttctttactcTggggtcccggctgccctgtg	14	12	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:91013752T>C	uc003yek.1	+	1	173	c.32T>C	c.(31-33)CTG>CCG	p.L11P	DECR1_uc011lgc.1_5'UTR|DECR1_uc011lgd.1_RNA	NM_001359	NP_001350	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1 precursor	11					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTCTTTACTCTGGGGTCCCGG	0.672											OREG0018857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	91013752	T	C	91013752	3	2	23	1	0	0	0	0	1	0	0	0	4382	1580	55	3	34	3	DECR1	8	91013752	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	3937417	91013752	55350270	712	21306											
DECR1	1666	broad.mit.edu	37	chr8	91031391	91031391	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaactgatcaaagttgcaggAcatcctaatgtaagtgtagc	10	7	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:91031391A>T	uc003yek.1	+	4	549	c.408A>T	c.(406-408)GGA>GGT	p.G136G	DECR1_uc011lgc.1_Silent_p.G127G|DECR1_uc011lgd.1_RNA	NM_001359	NP_001350	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1 precursor	136					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)			AAGTTGCAGGACATCCTAATG	0.363													T	91031391	A	T	91031391	2	4	23	1	0	0	0	0	0	0	0	1	4382	262	10	5		5	DECR1	8	91031391	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	17639	91031391	55332631	713	21307											
RUNX1T1	862	broad.mit.edu	37	chr8	93029539	93029539	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggagtcagcctagattgCgtcttcacatccacaggtga	12	10	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:93029539C>T	uc003yfd.2	-	2	225	c.141G>A	c.(139-141)ACG>ACA	p.T47T	RUNX1T1_uc003yfc.1_Silent_p.T20T|RUNX1T1_uc003yfe.1_Silent_p.T10T|RUNX1T1_uc010mao.2_Silent_p.T20T|RUNX1T1_uc011lgi.1_Silent_p.T58T|RUNX1T1_uc003yfh.1_Silent_p.T10T|RUNX1T1_uc003yfb.1_Silent_p.T10T|RUNX1T1_uc003yff.1_Silent_p.T10T|RUNX1T1_uc003yfg.1_Silent_p.T10T	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	47					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)			GCCTAGATTGCGTCTTCACAT	0.478													T	93029539	C	T	93029539	2	4	23	1	0	0	0	0	0	0	0	1	13747	755	27	1		1	RUNX1T1	8	93029539	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1998148	93029539	53334483	714	21308											
CDH17	1015	broad.mit.edu	37	chr8	95188800	95188800	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgccttactgagccttcGtactttgactggagaaacgt	9	10	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:95188800G>A	uc003ygh.2	-	5	518	c.393C>T	c.(391-393)TAC>TAT	p.Y131Y	CDH17_uc011lgo.1_Silent_p.Y131Y|CDH17_uc011lgp.1_Silent_p.Y131Y	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	131	Extracellular (Potential).|Cadherin 2.					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTGAGCCTTCGTACTTTGACT	0.507													A	95188800	G	A	95188800	2	1	23	1	0	0	0	0	0	0	0	1	3102	1140	40	1		1	CDH17	8	95188800	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2159261	95188800	51175222	715	21309											
KIAA1429	25962	broad.mit.edu	37	chr8	95531575	95531575	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgacataaaaaaaagaagAcccttctgtgactgtgcaag	8	9	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:95531575A>G	uc003ygo.1	-	9	2164	c.2151T>C	c.(2149-2151)GGT>GGC	p.G717G	KIAA1429_uc003ygp.2_Silent_p.G717G|KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	717					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AAAAAAGAAGACCCTTCTGTG	0.413													G	95531575	A	G	95531575	2	3	23	1	0	0	0	0	0	0	0	1	8231	262	10	3		3	KIAA1429	8	95531575	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	342775	95531575	50832447	716	21310											
INTS8	55656	broad.mit.edu	37	chr8	95888348	95888348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaattgactacaaaacagCgtttaaatctctgcaagaac	6	8	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:95888348C>T	uc003yhb.2	+	24	2861	c.2735C>T	c.(2734-2736)GCG>GTG	p.A912V	INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.A722V	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	912					snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					TACAAAACAGCGTTTAAATCT	0.308													T	95888348	C	T	95888348	3	4	23	1	0	0	0	0	1	0	0	0	7784	768	27	1	2829	1	INTS8	8	95888348	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	356773	95888348	50475674	717	21311											
CCNE2	9134	broad.mit.edu	37	chr8	95906149	95906149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgatgtttcttggtgacCtcctctcttctttttttgac	6	10	3	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:95906149C>T	uc003yhc.2	-	4	244	c.135G>A	c.(133-135)GAG>GAA	p.E45E	C8orf38_uc003yhe.1_5'Flank|C8orf38_uc003yhf.2_5'Flank|CCNE2_uc003yhd.2_Silent_p.E45E	NM_057749	NP_477097	O96020	CCNE2_HUMAN	cyclin E2	45					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding				0	Breast(36;8.75e-07)					TCTTGGTGACCTCCTCTCTTC	0.393													T	95906149	C	T	95906149	2	4	23	1	0	0	0	0	0	0	0	1	2921	680	24	4		4	CCNE2	8	95906149	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	17801	95906149	50457873	718	21312											
C8orf38	137682	broad.mit.edu	37	chr8	96044227	96044227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgtctgttacaggaaaCgggattatgaaggttattta	10	4	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:96044227C>T	uc003yhj.2	+	2	218	c.202C>T	c.(202-204)CGG>TGG	p.R68W	C8orf38_uc003yhe.1_RNA|C8orf38_uc003yhf.2_Translation_Start_Site|C8orf38_uc011lgs.1_RNA|C8orf38_uc003yhi.2_Missense_Mutation_p.R16W|C8orf38_uc003yhk.2_RNA|C8orf38_uc003yhl.2_Translation_Start_Site	NM_152416	NP_689629	Q330K2	CH038_HUMAN	hypothetical protein LOC137682 precursor	68					biosynthetic process	mitochondrion	transferase activity				0	Breast(36;3.32e-06)					TTACAGGAAACGGGATTATGA	0.418													T	96044227	C	T	96044227	3	4	23	1	0	0	0	0	1	0	0	0	2424	527	19	1	208	1	C8orf38	8	96044227	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	138078	96044227	50319795	719	21313											
MATN2	4147	broad.mit.edu	37	chr8	99030335	99030335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcgctgaggatgggaaaCgctgccgaagtaagtagcct	15	9	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:99030335C>T	uc003yic.2	+	12	2041	c.1810C>T	c.(1810-1812)CGC>TGC	p.R604C	MATN2_uc010mbh.1_Missense_Mutation_p.R563C|MATN2_uc003yid.2_Missense_Mutation_p.R604C|MATN2_uc003yie.1_Missense_Mutation_p.R604C|MATN2_uc010mbi.1_Missense_Mutation_p.R437C|MATN2_uc010mbj.1_Missense_Mutation_p.R103C	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	604	EGF-like 9.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GGATGGGAAACGCTGCCGAAG	0.473													T	99030335	C	T	99030335	3	4	23	1	0	0	0	0	1	0	0	0	9334	536	19	1	1852	1	MATN2	8	99030335	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2986108	99030335	47333687	720	21314											
OSR2	116039	broad.mit.edu	37	chr8	99961765	99961765	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccatgagaggacccacacGgacgagaggccgtacacgtg	13	12	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:99961765G>A	uc003yir.2	+	2	1120	c.585G>A	c.(583-585)ACG>ACA	p.T195T	OSR2_uc010mbn.2_Silent_p.T195T|OSR2_uc003yiq.2_Silent_p.T195T|OSR2_uc011lgx.1_Silent_p.T316T	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	195					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GGACCCACACGGACGAGAGGC	0.537													A	99961765	G	A	99961765	2	1	23	1	0	0	0	0	0	0	0	1	11294	1103	39	1		1	OSR2	8	99961765	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	931430	99961765	46402257	721	21315											
GRHL2	79977	broad.mit.edu	37	chr8	102589722	102589722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcactctcggcagcatacGgcgaagcagagggtccttga	14	11	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:102589722G>A	uc010mbu.2	+	7	1308	c.978G>A	c.(976-978)ACG>ACA	p.T326T		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	transcription factor CP2-like 3	326						cytoplasm|nucleus	DNA binding			ovary(2)|skin(1)	3	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GGCAGCATACGGCGAAGCAGA	0.498													A	102589722	G	A	102589722	2	1	23	1	0	0	0	0	0	0	0	1	6764	1103	39	1		1	GRHL2	8	102589722	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2627957	102589722	43774300	722	21316											
RIMS2	9699	broad.mit.edu	37	chr8	105001565	105001565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggggcttcgagggacccGcactatgaccggacattata	12	11	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:105001565G>A	uc003yls.2	+	15	2535	c.2294G>A	c.(2293-2295)CGC>CAC	p.R765H	RIMS2_uc003ylp.2_Missense_Mutation_p.R987H|RIMS2_uc003ylw.2_Missense_Mutation_p.R779H|RIMS2_uc003ylq.2_Missense_Mutation_p.R779H|RIMS2_uc003ylr.2_Missense_Mutation_p.R826H	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1049					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGAGGGACCCGCACTATGACC	0.378										HNSCC(12;0.0054)			A	105001565	G	A	105001565	3	1	23	1	0	0	0	0	1	0	0	0	13368	1087	38	1	3152	1	RIMS2	8	105001565	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2411843	105001565	41362457	723	21317											
TM7SF4	81501	broad.mit.edu	37	chr8	105361024	105361024	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcatgcacgatgttttAttcttcttgtctttctctct	5	11	5	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:105361024A>T	uc003ylx.1	+	2	293	c.244A>T	c.(244-246)ATT>TTT	p.I82F		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	82					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ACGATGTTTTATTCTTCTTGT	0.498													T	105361024	A	T	105361024	3	4	23	1	0	0	0	0	1	0	0	0	15973	449	16	5	246	5	TM7SF4	8	105361024	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	359459	105361024	41002998	724	21318											
LRP12	29967	broad.mit.edu	37	chr8	105509656	105509656	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggtatttcccatggcaaaCagaacccatctacttggtaa	8	10	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:105509656C>A	uc003yma.2	-	5	1219	c.1124G>T	c.(1123-1125)TGT>TTT	p.C375F	LRP12_uc003ymb.2_Missense_Mutation_p.C356F|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	375	Extracellular (Potential).|LDL-receptor class A 3.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCATGGCAAACAGAACCCATC	0.448													A	105509656	C	A	105509656	3	1	23	1	0	0	0	0	1	0	0	0	8954	478	17	5	1467	5	LRP12	8	105509656	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	148632	105509656	40854366	725	21319											
LRP12	29967	broad.mit.edu	37	chr8	105509809	105509809	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacgcaaaagcttgtgtggaTtctcctctaatccatcatat	6	11	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:105509809T>A	uc003yma.2	-	5	1066	c.971A>T	c.(970-972)AAT>ATT	p.N324I	LRP12_uc003ymb.2_Missense_Mutation_p.N305I|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	324	Extracellular (Potential).|CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGTGTGGATTCTCCTCTAA	0.383													A	105509809	T	A	105509809	3	1	23	1	0	0	0	0	1	0	0	0	8954	1493	52	5	1620	5	LRP12	8	105509809	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	153	105509809	40854213	726	21320											
TRPS1	7227	broad.mit.edu	37	chr8	116599323	116599323	+	Frame_Shift_Del	DEL	C	C	-													cttctctccgccagctggcgCcccctgcaggaatcccttgg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:116599322_116599322GC>G	uc003yny.3	-	4	3184	c.2606_2606GC>C	c.(2605-2607)gcgfs	p.A869fs	TRPS1_uc011lhy.2_Frame_Shift_Del_p.A860fs|TRPS1_uc003ynz.3_Frame_Shift_Del_p.A856fs|TRPS1_uc010mcy.3_Frame_Shift_Del_p.A856fs	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	856					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GCCAGCTGGCGCCCCCTGCAG	0.577									Langer-Giedion syndrome				-	116599323	C	-	116599323	7	5	23	1	0	1	0	1	0	0	0	0	16590	739	26	0	1291	0	TRPS1	8	116599323	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	11089514	116599323	29764699	727	21321											
TRPS1	7227	broad.mit.edu	37	chr8	116599521	116599521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctctccaagtcacattgcGaaggtcatcactggaactct	7	14	5	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:116599521G>A	uc003ynz.2	-	4	2827	c.2368C>T	c.(2368-2370)CGC>TGC	p.R790C	TRPS1_uc011lhy.1_Missense_Mutation_p.R794C|TRPS1_uc003yny.2_Missense_Mutation_p.R803C|TRPS1_uc010mcy.2_Missense_Mutation_p.R790C	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	790	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GTCACATTGCGAAGGTCATCA	0.567									Langer-Giedion_syndrome				A	116599521	G	A	116599521	3	1	23	1	0	0	0	0	1	0	0	0	16590	1058	37	1	1489	1	TRPS1	8	116599521	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	198	116599521	29764501	728	21322											
COL14A1	7373	broad.mit.edu	37	chr8	121237389	121237389	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacctctcacagagtatacTattgctattttctccatcta	3	12	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:121237389T>C	uc003yox.2	+	15	2065	c.1800T>C	c.(1798-1800)ACT>ACC	p.T600T	COL14A1_uc003yoy.2_Silent_p.T278T	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	600	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGAGTATACTATTGCTATTT	0.403													C	121237389	T	C	121237389	2	2	23	1	0	0	0	0	0	0	0	1	3671	1509	53	3		3	COL14A1	8	121237389	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	4637868	121237389	25126633	729	21323											
MTBP	27085	broad.mit.edu	37	chr8	121466147	121466147	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaagcttcctgctcctggTaatattttatgactgctttc	7	10	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:121466147T>C	uc003ypc.1	+	5	529	c.484_splice	c.e5+2	p.G162_splice	MTBP_uc011lie.1_Splice_Site	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53						cell cycle arrest					skin(2)|ovary(1)	3	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGCTCCTGGTAATATTTTAT	0.313													C	121466147	T	C	121466147	5	2	23	1	0	0	0	0	0	0	1	0	9912	1652	57	3	504	3	MTBP	8	121466147	Splice_Site	SNP	T	TCGA-BR-4368-01A-01D-1158-08	228758	121466147	24897875	730	21324											
FAM91A1	157769	broad.mit.edu	37	chr8	124799557	124799557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggacacacgaagcgcatcGcattcctgtttgactccact	8	14	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:124799557G>A	uc003yqv.2	+	13	1196	c.1135G>A	c.(1135-1137)GCA>ACA	p.A379T	FAM91A1_uc011lik.1_Missense_Mutation_p.A379T|FAM91A1_uc011lil.1_Missense_Mutation_p.A137T	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	379										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GAAGCGCATCGCATTCCTGTT	0.378													A	124799557	G	A	124799557	3	1	23	1	0	0	0	0	1	0	0	0	5651	1087	38	1	1185	1	FAM91A1	8	124799557	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3333410	124799557	21564465	731	21325											
FER1L6	654463	broad.mit.edu	37	chr8	125131143	125131143	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagctgagaaaaatcctgTtggaaaagcccgaaaggagc	12	7	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:125131143T>C	uc003yqw.2	+	40	5554	c.5348T>C	c.(5347-5349)GTT>GCT	p.V1783A	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1783	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAAAATCCTGTTGGAAAAGCC	0.498													C	125131143	T	C	125131143	3	2	23	1	0	0	0	0	1	0	0	0	5815	1725	60	3	5502	3	FER1L6	8	125131143	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	331586	125131143	21232879	732	21326											
MTSS1	9788	broad.mit.edu	37	chr8	125740157	125740157	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgatggtctggaagaggcCtccgagcgcgctgcattcct	14	11	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:125740157C>A	uc003yrk.2	-	1	574	c.40G>T	c.(40-42)GGC>TGC	p.G14C	MTSS1_uc003yrj.2_Missense_Mutation_p.G14C|MTSS1_uc003yrl.2_Missense_Mutation_p.G14C	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	14	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TGGAAGAGGCCTCCGAGCGCG	0.557													A	125740157	C	A	125740157	3	1	23	1	0	0	0	0	1	0	0	0	9962	681	24	5	2283	5	MTSS1	8	125740157	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	609014	125740157	20623865	733	21327											
GSDMC	56169	broad.mit.edu	37	chr8	130764140	130764140	+	Splice_Site	DEL	A	A	-													tgtgaacttgttcgtattctAaaaaaagaaatgaaattcct							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:130764139_130764139TA>T	uc003ysr.3	-	9	1769	c.887_splice	c.e9-1	p.K296_splice		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	296						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GTTCGTATTCTAAAAAAAGAA	0.473													-	130764140	A	-	130764140	8	5	23	1	0	1	0	1	0	0	1	0	6818	377	13	0		0	GSDMC	8	130764140	Splice_Site	DEL	A	TCGA-BR-4368-01A-01D-1158-08	5023983	130764140	15599882	734	21328											
ASAP1	50807	broad.mit.edu	37	chr8	131072914	131072914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgcttgcttttggatggCgtctctggactgcacatttg	12	8	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:131072914C>T	uc003yta.1	-	27	3131	c.3103G>A	c.(3103-3105)GCC>ACC	p.A1035T	ASAP1_uc003ysz.1_Missense_Mutation_p.A846T|ASAP1_uc011liw.1_Missense_Mutation_p.A1028T	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	1035					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						TTTTGGATGGCGTCTCTGGAC	0.542													T	131072914	C	T	131072914	3	4	23	1	0	0	0	0	1	0	0	0	1010	768	27	1	298	1	ASAP1	8	131072914	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	308774	131072914	15291108	735	21329											
ASAP1	50807	broad.mit.edu	37	chr8	131370319	131370319	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccgcgtggtgaagctggAcgtggtgggcgagttgtagt	19	7	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:131370319A>G	uc003yta.1	-	2	158	c.130T>C	c.(130-132)TCC>CCC	p.S44P	ASAP1_uc011liw.1_Missense_Mutation_p.S37P	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	44					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						GTGAAGCTGGACGTGGTGGGC	0.682													G	131370319	A	G	131370319	3	3	23	1	0	0	0	0	1	0	0	0	1010	275	10	3	3371	3	ASAP1	8	131370319	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	297405	131370319	14993703	736	21330											
KCNQ3	3786	broad.mit.edu	37	chr8	133144483	133144483	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcttcgatttctgatgTggatggtctggctacatatg	12	6	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:133144483T>C	uc003ytj.2	-	14	2053	c.1828A>G	c.(1828-1830)ACA>GCA	p.T610A	KCNQ3_uc010mdt.2_Missense_Mutation_p.T598A	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	610					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATTTCTGATGTGGATGGTCTG	0.383													C	133144483	T	C	133144483	3	2	23	1	0	0	0	0	1	0	0	0	8084	1696	59	3	798	3	KCNQ3	8	133144483	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	1774164	133144483	13219539	737	21331											
FAM135B	51059	broad.mit.edu	37	chr8	139189644	139189644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctccatgtaaaagaagGcctcagaaaaccttcggacc	10	11	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:139189644G>A	uc003yuy.2	-	11	1220	c.1049C>T	c.(1048-1050)GCC>GTC	p.A350V	FAM135B_uc003yux.2_Missense_Mutation_p.A251V|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	350										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTAAAAGAAGGCCTCAGAAAA	0.403										HNSCC(54;0.14)			A	139189644	G	A	139189644	3	1	23	1	0	0	0	0	1	0	0	0	5449	1203	42	2	3211	2	FAM135B	8	139189644	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	6045161	139189644	7174378	738	21332											
COL22A1	169044	broad.mit.edu	37	chr8	139661990	139661990	+	Frame_Shift_Del	DEL	G	G	-													ctggtagaccagggaggcctGgggggccaggagggcagtca							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:139661989_139661989TG>T	uc003yvd.3	-	45	3813	c.3366_3366CA>A	c.(3364-3366)ccafs	p.P1122fs	COL22A1_uc011ljo.2_Frame_Shift_Del_p.P402fs	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1122	Collagen-like 10.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGGGAGGCCTGGGGGGCCAG	0.512										HNSCC(7;0.00092)			-	139661990	G	-	139661990	7	5	23	1	0	1	0	1	0	0	0	0	3681	1348	47	0	1595	0	COL22A1	8	139661990	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	472346	139661990	6702032	739	21333											
EIF2C2	27161	broad.mit.edu	37	chr8	141570576	141570576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttagagcagccttcggaCgcggtgaagaaggagcggcc	18	9	0	3	rs144947708	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:141570576C>T	uc003yvn.2	-	5	592	c.552G>A	c.(550-552)GCG>GCA	p.A184A	EIF2C2_uc010men.2_Silent_p.A107A|EIF2C2_uc010meo.2_Silent_p.A184A	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	184					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			AGCCTTCGGACGCGGTGAAGA	0.602													T	141570576	C	T	141570576	2	4	23	1	0	0	0	0	0	0	0	1	5006	523	19	1		1	EIF2C2	8	141570576	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1908586	141570576	4793446	740	21334											
PTP4A3	11156	broad.mit.edu	37	chr8	142441117	142441117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggttcaaagacccacacacGcacaagacccggtgctgcgt	10	15	1	2	rs145258592		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:142441117G>A	uc003ywg.1	+	5	829	c.495G>A	c.(493-495)ACG>ACA	p.T165T	PTP4A3_uc003ywh.1_Silent_p.T140T|PTP4A3_uc010met.1_Missense_Mutation_p.R79H	NM_032611	NP_116000	O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	165						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			ACCCACACACGCACAAGACCC	0.617													A	142441117	G	A	142441117	2	1	23	1	0	0	0	0	0	0	0	1	12772	1074	38	1		1	PTP4A3	8	142441117	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	870541	142441117	3922905	741	21335											
JRK	8629	broad.mit.edu	37	chr8	143747298	143747298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaagaaccggagcagctgCgccttgtgggccctgatgtc	15	12	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:143747298C>T	uc003ywo.2	-	2	694	c.180G>A	c.(178-180)GCG>GCA	p.A60A	JRK_uc003ywp.2_Silent_p.A60A|JRK_uc010mew.1_Silent_p.A60A	NM_001077527	NP_001070995			jerky isoform b												0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				ggagcagctgcgccttgtggg	0													T	143747298	C	T	143747298	2	4	23	1	0	0	0	0	0	0	0	1	7964	755	27	1		1	JRK	8	143747298	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1306181	143747298	2616724	742	21336											
LY6H	4062	broad.mit.edu	37	chr8	144239712	144239712	+	Frame_Shift_Del	DEL	C	C	-													ggccccaggctgagcaggagCcccccggccagggcccaggg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:144239711_144239711GC>G	uc003yxt.3	-	2	1240	c.493_493GC>C	c.(493-495)ctcfs	p.L165fs	LY6H_uc011lka.2_Frame_Shift_Del_p.L127fs|LY6H_uc011lkb.2_Frame_Shift_Del_p.L148fs|LY6H_uc011lkc.2_Frame_Shift_Del_p.L148fs			O94772	LY6H_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus H (LY6H), transcript variant 3, mRNA.	127					nervous system development|organ morphogenesis	anchored to membrane|plasma membrane				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGAGCAGGAGCCCCCCGGCC	0.672													-	144239712	C	-	144239712	7	5	23	1	0	1	0	1	0	0	0	0	9097	726	26	0	48	0	LY6H	8	144239712	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	492414	144239712	2124310	743	21337											
RHPN1	114822	broad.mit.edu	37	chr8	144457822	144457822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcagatgcggacgggcGctgagaacctctacaggtca	14	11	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:144457822G>A	uc003yyb.2	+	2	293	c.160G>A	c.(160-162)GCT>ACT	p.A54T		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	rhophilin 1	54	REM.				signal transduction	intracellular				large_intestine(1)	1	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GCGGACGGGCGCTGAGAACCT	0.667													A	144457822	G	A	144457822	3	1	23	1	0	0	0	0	1	0	0	0	13350	1087	38	1	166	1	RHPN1	8	144457822	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	218110	144457822	1906200	744	21338											
ZC3H3	23144	broad.mit.edu	37	chr8	144620861	144620861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgggaagctcgccttgaCggcaatcacactctcactga	11	12	2	2	rs75499773		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:144620861C>T	uc003yyd.2	-	2	705	c.676G>A	c.(676-678)GTC>ATC	p.V226I		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	226					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CTCGCCTTGACGGCAATCACA	0.662													T	144620861	C	T	144620861	3	4	23	1	0	0	0	0	1	0	0	0	17566	536	19	1	2214	1	ZC3H3	8	144620861	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	163039	144620861	1743161	745	21339											
MAPK15	225689	broad.mit.edu	37	chr8	144804319	144804319	+	Frame_Shift_Del	DEL	G	G	-													tctgccttgcagggtgcccaGgggggtgccagggctttgct							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:144804318_144804318AG>A	uc003yzj.3	+	13	1573	c.1532_1532AG>A	c.(1531-1533)cagfs	p.Q511fs		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	511					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGGGTGCCCAGGGGGGTGCC	0.667													-	144804319	G	-	144804319	7	5	23	1	0	1	0	1	0	0	0	0	9277	991	35	0	1587	0	MAPK15	8	144804319	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	183458	144804319	1559703	746	21340											
SCRIB	23513	broad.mit.edu	37	chr8	144874253	144874253	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccccggccttcctgggacCtgctgaggaccatctgtgct	12	15	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:144874253C>A	uc003yzp.1	-	33	4572	c.4565G>T	c.(4564-4566)AGG>ATG	p.R1522M	SCRIB_uc003yzn.1_Missense_Mutation_p.R255M|SCRIB_uc003yzo.1_Missense_Mutation_p.R1522M	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1522					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TTCCTGGGACCTGCTGAGGAC	0.692													A	144874253	C	A	144874253	3	1	23	1	0	0	0	0	1	0	0	0	13937	681	24	5	422	5	SCRIB	8	144874253	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	69934	144874253	1489769	747	21341											
EPPK1	83481	broad.mit.edu	37	chr8	144944997	144944997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaaggcctgctgggtggCactgtccaccagcggggact	16	12	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:144944997C>T	uc003zaa.1	-	1	2438	c.2425G>A	c.(2425-2427)GCC>ACC	p.A809T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	809						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCTGGGTGGCACTGTCCACC	0.627													T	144944997	C	T	144944997	3	4	23	1	0	0	0	0	1	0	0	0	5190	710	25	2	4841	2	EPPK1	8	144944997	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	70744	144944997	1419025	748	21342											
PARP10	84875	broad.mit.edu	37	chr8	145057230	145057230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccttcagcgtctgccccGccactgatgcatggggaaaa	11	15	2	1	rs141244035	by1000genomes	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:145057230G>A	uc003zal.3	-	9	2534	c.2426C>T	c.(2425-2427)GCG>GTG	p.A809V	PARP10_uc003zak.3_Missense_Mutation_p.A506V|PARP10_uc011lku.1_Missense_Mutation_p.A821V|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.A800V	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	809	PARP catalytic.|Myc binding.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGTCTGCCCCGCCACTGATGC	0.657													A	145057230	G	A	145057230	3	1	23	1	0	0	0	0	1	0	0	0	11455	1087	38	1	663	1	PARP10	8	145057230	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	112233	145057230	1306792	749	21343											
CPSF1	29894	broad.mit.edu	37	chr8	145624413	145624413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacaatctccaggtccggctCggggctgttctgaaactgca	11	13	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:145624413C>T	uc003zcj.2	-	16	1558	c.1483G>A	c.(1483-1485)GAG>AAG	p.E495K		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	495					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGGTCCGGCTCGGGGCTGTTC	0.483													T	145624413	C	T	145624413	3	4	23	1	0	0	0	0	1	0	0	0	3824	893	31	1	2940	1	CPSF1	8	145624413	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	567183	145624413	739609	750	21344											
FOXD4	2298	broad.mit.edu	37	chr9	116989	116989	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgcgcccttggtgggagcGcagccgttggcgcagtcctc	15	15	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:116989G>A	uc003zfz.2	-	1	1429	c.1131C>T	c.(1129-1131)TGC>TGT	p.C377C		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	377					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TGGTGGGAGCGCAGCCGTTGG	0.692													A	116989	G	A	116989	2	1	23	1	0	0	0	0	0	0	0	1	5999	1079	38	1		1	FOXD4	9	116989	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08		116989	141096442	751	21345											
CBWD1	55871	broad.mit.edu	37	chr9	121993	121993	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgatttgttctctcagtgTcatccttccagctcactgga	7	12	4	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:121993T>C	uc003zga.3	-	14	1155	c.1049A>G	c.(1048-1050)GAC>GGC	p.D350G	CBWD1_uc010mgs.2_RNA|CBWD1_uc003zgb.3_Missense_Mutation_p.D314G|CBWD1_uc003zgc.3_Missense_Mutation_p.D331G	NM_018491	NP_060961	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1 isoform 1	350	CobW C-terminal.						ATP binding|protein binding			ovary(1)	1	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCTCTCAGTGTCATCCTTCCA	0.418													C	121993	T	C	121993	3	2	23	1	0	0	0	0	1	0	0	0	2712	1667	58	3	146	3	CBWD1	9	121993	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	5004	121993	141091438	752	21346											
KCNV2	169522	broad.mit.edu	37	chr9	2718573	2718573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctccgtggtggcgctggcGctcaacaccgtggaggagat	16	11	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:2718573G>A	uc003zho.1	+	1	1048	c.834G>A	c.(832-834)GCG>GCA	p.A278A		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	278	Helical; Name=Segment S2; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		TGGCGCTGGCGCTCAACACCG	0.677													A	2718573	G	A	2718573	2	1	23	1	0	0	0	0	0	0	0	1	8095	1074	38	1		1	KCNV2	9	2718573	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2596580	2718573	138494858	753	21347											
JAK2	3717	broad.mit.edu	37	chr9	5054649	5054649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaataaggtacagatttcGcagatttattcagcaattca	8	7	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:5054649G>A	uc010mhm.2	+	6	814	c.701G>A	c.(700-702)CGC>CAC	p.R234H	JAK2_uc003ziw.2_Missense_Mutation_p.R234H	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	234	Interaction with cytokine/interferon/growth hormone receptors (By similarity).|FERM.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TACAGATTTCGCAGATTTATT	0.368		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				A	5054649	G	A	5054649	3	1	23	1	0	0	0	0	1	0	0	0	7938	1087	38	1	719	1	JAK2	9	5054649	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2336076	5054649	136158782	754	21348											
GLDC	2731	broad.mit.edu	37	chr9	6553433	6553433	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggggccgcactgacggttcCcacaggacaggcatcctcat	12	14	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:6553433C>A	uc003zkc.2	-	20	2585	c.2392G>T	c.(2392-2394)GGA>TGA	p.G798*		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	798					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTGACGGTTCCCACAGGACAG	0.512													A	6553433	C	A	6553433	4	1	23	1	0	0	0	0	0	1	0	0	6433	632	22	5	694	5	GLDC	9	6553433	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1498784	6553433	134659998	755	21349											
KDM4C	23081	broad.mit.edu	37	chr9	7015923	7015923	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cggtgcaaaagaaatgcgtgGacagcagtaagtagcttatt	12	6	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:7015923G>C	uc003zkh.2	+	15	2833	c.2253G>C	c.(2251-2253)TGG>TGC	p.W751C	KDM4C_uc010mhu.2_Missense_Mutation_p.W773C|KDM4C_uc011lmi.1_Missense_Mutation_p.W751C|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.W751C|KDM4C_uc011lmk.1_Missense_Mutation_p.W496C|KDM4C_uc011lml.1_Missense_Mutation_p.W438C	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	751					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1						GAAATGCGTGGACAGCAGTAA	0.408													C	7015923	G	C	7015923	3	2	23	1	0	0	0	0	1	0	0	0	8130	1183	41	5	2377	5	KDM4C	9	7015923	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	462490	7015923	134197508	756	21350											
BNC2	54796	broad.mit.edu	37	chr9	16436812	16436812	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcttcaggtgaacagcattGtaatgaattttgagagtacc	9	6	2	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:16436812G>T	uc003zml.2	-	6	1520	c.1380C>A	c.(1378-1380)TAC>TAA	p.Y460*	BNC2_uc011lmw.1_Nonsense_Mutation_p.Y365*|BNC2_uc003zmm.2_Nonsense_Mutation_p.Y418*|BNC2_uc003zmq.1_Nonsense_Mutation_p.Y474*|BNC2_uc003zmr.1_Nonsense_Mutation_p.Y497*|BNC2_uc003zmp.1_Nonsense_Mutation_p.Y488*|BNC2_uc010mij.1_Nonsense_Mutation_p.Y382*|BNC2_uc011lmv.1_Nonsense_Mutation_p.Y286*|BNC2_uc003zmo.1_Nonsense_Mutation_p.Y382*|BNC2_uc003zmj.2_Nonsense_Mutation_p.Y225*|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Nonsense_Mutation_p.Y225*|BNC2_uc003zmn.1_Nonsense_Mutation_p.Y225*	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	460	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		GAACAGCATTGTAATGAATTT	0.453													T	16436812	G	T	16436812	4	4	23	1	0	0	0	0	0	1	0	0	1475	1372	48	5	1927	5	BNC2	9	16436812	Nonsense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	9420889	16436812	124776619	757	21351											
DENND4C	55667	broad.mit.edu	37	chr9	19316732	19316732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattcaagaggcatttttgCgctttatggcgtctatttta	8	6	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:19316732C>T	uc003znq.2	+	8	1027	c.994C>T	c.(994-996)CGC>TGC	p.R332C	DENND4C_uc011lnc.1_5'UTR	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	332	dDENN.					integral to membrane				ovary(1)|skin(1)	2						GGCATTTTTGCGCTTTATGGC	0.413													T	19316732	C	T	19316732	3	4	23	1	0	0	0	0	1	0	0	0	4435	768	27	1	1024	1	DENND4C	9	19316732	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2879920	19316732	121896699	758	21352											
CDKN2A	1029	broad.mit.edu	37	chr9	21994370	21994370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagctcggcagccgctgcGccgccctttggcaccagagg	14	17	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:21994370G>A	uc003zpl.2	-	1	121	c.84C>T	c.(82-84)GGC>GGT	p.G28G	MTAP_uc003zpi.1_Intron|CDKN2BAS_uc010miw.1_5'Flank|CDKN2BAS_uc010mix.1_5'Flank|CDKN2BAS_uc003zpm.2_5'Flank	NM_058195	NP_478102	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 4	Error:Variant_position_missing_in_P42771_after_alignment					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(197)|p.V28_E33del(2)|p.V28V(2)|p.V28_V51del(1)|p.V28fs*26(1)|p.V28G(1)|p.V28fs*15(1)|p.V28M(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGCCGCTGCGCCGCCCTTTG	0.726		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			A	21994370	G	A	21994370	2	1	23	1	0	0	0	0	0	0	0	1	3161	1074	38	1		1	CDKN2A	9	21994370	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2677638	21994370	119219061	759	21353											
LINGO2	158038	broad.mit.edu	37	chr9	27948946	27948946	+	Frame_Shift_Del	DEL	T	T	-													catactcaaggtcaatgctgTttttgtgcttgcctttccct							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:27948945_27948945GT>G	uc003zqv.1	-	6	2375	c.1725_1725AC>C	c.(1723-1725)aacfs	p.N575fs	LINGO2_uc010mjf.1_Frame_Shift_Del_p.N575fs|LINGO2_uc003zqu.1_Frame_Shift_Del_p.N575fs|LINGO2_uc022bfc.1_Frame_Shift_Del_p.N575fs	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	575						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GGTCAATGCTGTTTTTGTGCT	0.463													-	27948946	T	-	27948946	7	5	23	1	0	1	0	1	0	0	0	0	8815	1725	60	0	100	0	LINGO2	9	27948946	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	5954576	27948946	113264485	760	21354											
NFX1	4799	broad.mit.edu	37	chr9	33351731	33351731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagctgactgtggtcacccGtgtatggcaccctgccatac	11	13	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:33351731G>A	uc003zsq.2	+	16	2659	c.2598G>A	c.(2596-2598)CCG>CCA	p.P866P	SUGT1P1_uc010mjq.1_Intron|NFX1_uc003zsp.1_Silent_p.P866P|NFX1_uc010mjr.1_Silent_p.P867P|NFX1_uc003zsr.2_Silent_p.P867P	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	866	NF-X1-type 8.				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GTGGTCACCCGTGTATGGCAC	0.552													A	33351731	G	A	33351731	2	1	23	1	0	0	0	0	0	0	0	1	10387	1132	40	1		1	NFX1	9	33351731	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	5402785	33351731	107861700	761	21355											
UNC13B	10497	broad.mit.edu	37	chr9	35313894	35313894	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtactttttctctgttacaAgttttcctgaggagaatgca	8	7	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:35313894A>G	uc003zwq.2	+	10	1369	c.1077_splice	c.e10-2	p.S359_splice	UNC13B_uc010mkl.1_Splice_Site_p.S359_splice|UNC13B_uc003zwr.2_Splice_Site_p.S359_splice	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like						excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CTCTGTTACAAGTTTTCCTGA	0.433													G	35313894	A	G	35313894	5	3	23	1	0	0	0	0	0	0	1	0	16982	86	3	3	1113	3	UNC13B	9	35313894	Splice_Site	SNP	A	TCGA-BR-4368-01A-01D-1158-08	1962163	35313894	105899537	762	21356											
ALDH1B1	219	broad.mit.edu	37	chr9	38395863	38395863	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatcccctacaaccagctgTtcatcaacaatgaatggcaa	5	13	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:38395863T>C	uc004aay.2	+	2	230	c.118T>C	c.(118-120)TTC>CTC	p.F40L		NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	40					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			skin(1)	1				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CAACCAGCTGTTCATCAACAA	0.607													C	38395863	T	C	38395863	3	2	23	1	0	0	0	0	1	0	0	0	493	1725	60	3	120	3	ALDH1B1	9	38395863	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	3081969	38395863	102817568	763	21357											
TRPM3	80036	broad.mit.edu	37	chr9	73213556	73213556	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccataccttcactttctGtagcaacttccctggctctg	6	15	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:73213556G>A	uc004aid.2	-	20	3035	c.2791C>T	c.(2791-2793)CAG>TAG	p.Q931*	TRPM3_uc004ahu.2_Nonsense_Mutation_p.Q761*|TRPM3_uc004ahv.2_Nonsense_Mutation_p.Q733*|TRPM3_uc004ahw.2_Nonsense_Mutation_p.Q803*|TRPM3_uc004ahx.2_Nonsense_Mutation_p.Q790*|TRPM3_uc004ahy.2_Nonsense_Mutation_p.Q793*|TRPM3_uc004ahz.2_Nonsense_Mutation_p.Q780*|TRPM3_uc004aia.2_Nonsense_Mutation_p.Q778*|TRPM3_uc004aib.2_Nonsense_Mutation_p.Q768*|TRPM3_uc004aic.2_Nonsense_Mutation_p.Q931*	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	956	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						TTCACTTTCTGTAGCAACTTC	0.498													A	73213556	G	A	73213556	4	1	23	1	0	0	0	0	0	1	0	0	16584	1386	48	4	2356	4	TRPM3	9	73213556	Nonsense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	34817693	73213556	67999875	764	21358											
ALDH1A1	216	broad.mit.edu	37	chr9	75543858	75543858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccaacctgcacagtagCgcaatgttttgatgcagcct	9	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:75543858C>T	uc004ajd.2	-	4	445	c.392G>A	c.(391-393)CGC>CAC	p.R131H	ALDH1A1_uc011lsh.1_Missense_Mutation_p.R52H	NM_000689	NP_000680	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1A1	131					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			ovary(3)|lung(1)	4					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TGCACAGTAGCGCAATGTTTT	0.428													T	75543858	C	T	75543858	3	4	23	1	0	0	0	0	1	0	0	0	490	768	27	1	1153	1	ALDH1A1	9	75543858	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2330302	75543858	65669573	765	21359											
GNAQ	2776	broad.mit.edu	37	chr9	80537249	80537250	+	Frame_Shift_Del	DEL	CT	CT	-													tgataaacgtactcttgccaCtctctcctgtccctgaaaga							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:80537248_80537249ACT>A	uc004akw.3	-	1	217_218	c.149_150AGT>T	c.(148-150)agtfs	p.S50fs		NM_002072	NP_002063	P50148	GNAQ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), q polypeptide (GNAQ), mRNA.	50					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						TACTCTTGCCACTCTCTCCTGT	0.436			Mis		uveal melanoma								-	80537250	CT	-	80537249	7	5	23	1	0	1	0	1	0	0	0	0	6509	565	20	0	954	0	GNAQ	9	80537249	Frame_Shift_Del	DEL	CT	TCGA-BR-4368-01A-01D-1158-08	4993391	80537249	60676182	766	21360											
TLE1	7088	broad.mit.edu	37	chr9	84225192	84225192	+	Frame_Shift_Del	DEL	G	G	-													tggtaggtactctcatgtgaGggggaggatcaaaccccacc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:84225191_84225191AG>A	uc004alz.3	-	13	1746	c.1305_1305CT>T	c.(1303-1305)cctfs	p.P435fs	TLE1_uc004aly.3_Frame_Shift_Del_p.P425fs|TLE1_uc011lsr.2_Frame_Shift_Del_p.P410fs|TLE1_uc004ama.1_Frame_Shift_Del_p.P424fs	NM_005077	NP_005068	Q04724	TLE1_HUMAN	Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA.	425	Pro/Ser-rich.				Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CTCTCATGTGAGGGGGAGGAT	0.448													-	84225192	G	-	84225192	7	5	23	1	0	1	0	1	0	0	0	0	15935	1000	35	0	1066	0	TLE1	9	84225192	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	3687943	84225192	56988239	767	21361											
AGTPBP1	23287	broad.mit.edu	37	chr9	88193897	88193897	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtataacttctttgtactcCtatttccctccaaactacaa	3	12	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:88193897C>A	uc011ltd.1	-	23	3313	c.3280G>T	c.(3280-3282)GGA>TGA	p.G1094*	AGTPBP1_uc004aod.3_Nonsense_Mutation_p.G720*|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Nonsense_Mutation_p.G1054*|AGTPBP1_uc011lte.1_Nonsense_Mutation_p.G1106*	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1094					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						CTTTGTACTCCTATTTCCCTC	0.398													A	88193897	C	A	88193897	4	1	23	1	0	0	0	0	0	1	0	0	400	690	24	5	412	5	AGTPBP1	9	88193897	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3968705	88193897	53019534	768	21362											
GOLM1	51280	broad.mit.edu	37	chr9	88694210	88694210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcggcgacttcatgctgCgacgcccgtttcccaagccc	13	16	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:88694210C>T	uc004aol.2	-	2	224	c.26G>A	c.(25-27)CGC>CAC	p.R9H	GOLM1_uc010mqd.1_RNA|GOLM1_uc004aom.2_Missense_Mutation_p.R9H	NM_016548	NP_057632	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	9	Cytoplasmic (Potential).					Golgi apparatus|integral to plasma membrane					0						CTTCATGCTGCGACGCCCGTT	0.527													T	88694210	C	T	88694210	3	4	23	1	0	0	0	0	1	0	0	0	6567	768	27	1	1215	1	GOLM1	9	88694210	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	500313	88694210	52519221	769	21363											
ZCCHC6	79670	broad.mit.edu	37	chr9	88937823	88937823	+	Frame_Shift_Del	DEL	A	A	-													gataagtttactgaattcatAaaaaaaatcagactgatcca							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:88937822_88937822TA>T	uc004aou.3	-	12	2981	c.2843_2843TA>A	c.(2842-2844)tatfs	p.Y948fs	ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Frame_Shift_Del_p.Y948fs|ZCCHC6_uc004aot.3_Frame_Shift_Del_p.Y825fs|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	948					RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						ACTGAATTCATAAAAAAAATC	0.333													-	88937823	A	-	88937823	7	5	23	1	0	1	0	1	0	0	0	0	17589	362	13	0	1705	0	ZCCHC6	9	88937823	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	243613	88937823	52275608	770	21364											
SUSD3	203328	broad.mit.edu	37	chr9	95840243	95840243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgctgcctcctcaagtgCgtgaagaagagcaagcggcg	13	12	1	3	rs149186318	by1000genomes	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:95840243C>T	uc004atb.2	+	3	429	c.393C>T	c.(391-393)TGC>TGT	p.C131C	SUSD3_uc004atc.2_Silent_p.C118C	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN	sushi domain containing 3	131	Cytoplasmic (Potential).					integral to membrane				breast(2)|skin(2)|ovary(1)|lung(1)	6						TCCTCAAGTGCGTGAAGAAGA	0.607													T	95840243	C	T	95840243	2	4	23	1	0	0	0	0	0	0	0	1	15406	776	27	1		1	SUSD3	9	95840243	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	6902420	95840243	45373188	771	21365											
FAM22G	441457	broad.mit.edu	37	chr9	99697697	99697697	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgcgggaatggcagcacacGagcaactttgaccggatgat	13	9	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:99697697G>A	uc004awq.1	+	3	1516	c.801G>A	c.(799-801)ACG>ACA	p.T267T	HIATL2_uc004awr.1_Intron	NM_001045477	NP_001038942	Q5VZR2	FA22G_HUMAN	hypothetical protein LOC441457	267										skin(1)	1		Acute lymphoblastic leukemia(62;0.0527)				GGCAGCACACGAGCAACTTTG	0.627													A	99697697	G	A	99697697	2	1	23	1	0	0	0	0	0	0	0	1	5546	1045	37	1		1	FAM22G	9	99697697	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3857454	99697697	41515734	772	21366											
INVS	27130	broad.mit.edu	37	chr9	103008902	103008902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagttttcttacaggaaaCggttaaagtgtttttaaaac	7	5	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:103008902C>T	uc004bap.1	+	8	1123	c.911C>T	c.(910-912)ACG>ATG	p.T304M	INVS_uc010mta.1_Missense_Mutation_p.T208M|INVS_uc011lve.1_Missense_Mutation_p.T208M|INVS_uc004bao.1_Missense_Mutation_p.T304M|INVS_uc004baq.1_Missense_Mutation_p.T208M|INVS_uc004bar.1_Missense_Mutation_p.T208M|INVS_uc010mtb.1_Translation_Start_Site	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	304	ANK 9.				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				TTACAGGAAACGGTTAAAGTG	0.343													T	103008902	C	T	103008902	3	4	23	1	0	0	0	0	1	0	0	0	7787	536	19	1	937	1	INVS	9	103008902	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3311205	103008902	38204529	773	21367											
MURC	347273	broad.mit.edu	37	chr9	103340555	103340555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacaaagtagcctccatcGtggacagtgtgcaggcaagc	13	10	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:103340555G>A	uc004bba.2	+	1	220	c.130G>A	c.(130-132)GTG>ATG	p.V44M		NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	44	Potential.				cell differentiation|muscle organ development|transcription, DNA-dependent					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0461)				AGCCTCCATCGTGGACAGTGT	0.463													A	103340555	G	A	103340555	3	1	23	1	0	0	0	0	1	0	0	0	9987	1145	40	1	132	1	MURC	9	103340555	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	331653	103340555	37872876	774	21368											
RNF20	56254	broad.mit.edu	37	chr9	104324640	104324640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctatgacacccgccagcGcaaatgtcccaagtgtaatg	9	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:104324640G>A	uc004bbn.2	+	20	2954	c.2864G>A	c.(2863-2865)CGC>CAC	p.R955H		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	955	RING-type.				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		ACCCGCCAGCGCAAATGTCCC	0.448													A	104324640	G	A	104324640	3	1	23	1	0	0	0	0	1	0	0	0	13473	1087	38	1	2938	1	RNF20	9	104324640	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	984085	104324640	36888791	775	21369											
GRIN3A	116443	broad.mit.edu	37	chr9	104449155	104449155	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcatgaccccaaactgggTtgtaatttcgaaaatccgcc	10	11	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:104449155T>C	uc004bbp.1	-	2	1628	c.1027A>G	c.(1027-1029)ACC>GCC	p.T343A	GRIN3A_uc004bbq.1_Missense_Mutation_p.T343A	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	343	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CCAAACTGGGTTGTAATTTCG	0.517													C	104449155	T	C	104449155	3	2	23	1	0	0	0	0	1	0	0	0	6783	1725	60	3	2352	3	GRIN3A	9	104449155	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	124515	104449155	36764276	776	21370											
SMC2	10592	broad.mit.edu	37	chr9	106889604	106889604	+	Frame_Shift_Del	DEL	A	A	-													tcaagaagaggtgaccaagcAaaaagaggtgataacagccc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:106889603_106889603CA>C	uc004bbv.3	+	19	2920	c.2632_2632CA>C	c.(2632-2634)caafs	p.Q878fs	SMC2_uc004bbw.3_Frame_Shift_Del_p.Q878fs|SMC2_uc011lvl.2_Frame_Shift_Del_p.Q878fs|SMC2_uc004bbx.3_Frame_Shift_Del_p.Q878fs|SMC2_uc004bby.3_Non-coding_Transcript	NM_001042551	NP_006435	O95347	SMC2_HUMAN	Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.	878					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGTGACCAAGCAAAAAGAGGT	0.308													-	106889604	A	-	106889604	7	5	23	1	0	1	0	1	0	0	0	0	14783	130	5	0	2707	0	SMC2	9	106889604	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	2440449	106889604	34323827	777	21371											
CDC26	246184	broad.mit.edu	37	chr9	116029676	116029676	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatggctccttctccatcaCtgcctcctacaacttccaca	3	18	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:116029676C>A	uc004bgw.2	-	4	484	c.125G>T	c.(124-126)AGT>ATT	p.S42I	FKBP15_uc010muu.1_Intron	NM_139286	NP_644815	Q8NHZ8	CDC26_HUMAN	CDC26 subunit of anaphase promoting complex	42					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm					0						TTCTCCATCACTGCCTCCTAC	0.388													A	116029676	C	A	116029676	3	1	23	1	0	0	0	0	1	0	0	0	3065	565	20	5	136	5	CDC26	9	116029676	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	9140072	116029676	25183755	778	21372											
TLR4	7099	broad.mit.edu	37	chr9	120474910	120474910	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccaatctttcaaattaccTgagtatttttctaatctgac	3	9	4	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:120474910T>C	uc004bjz.2	+	3	795	c.504T>C	c.(502-504)CCT>CCC	p.P168P	TLR4_uc004bka.2_Silent_p.P128P|TLR4_uc004bkb.2_5'UTR	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	168	Extracellular (Potential).|LRR 5.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						TCAAATTACCTGAGTATTTTT	0.373													C	120474910	T	C	120474910	2	2	23	1	0	0	0	0	0	0	0	1	15950	1567	55	3		3	TLR4	9	120474910	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	4445234	120474910	20738521	779	21373											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123220813	123220813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttctaggcagccaggtgCgtgggccccatcacaatctg	11	13	4	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:123220813C>T	uc004bkf.2	-	20	2471	c.2290G>A	c.(2290-2292)GCA>ACA	p.A764T	CDK5RAP2_uc004bke.2_Missense_Mutation_p.A49T|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.A764T|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.A29T|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.A29T|CDK5RAP2_uc011lya.1_Missense_Mutation_p.A29T|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.2_Missense_Mutation_p.A531T	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	764					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						CAGCCAGGTGCGTGGGCCCCA	0.458													T	123220813	C	T	123220813	3	4	23	1	0	0	0	0	1	0	0	0	3146	768	27	1	3467	1	CDK5RAP2	9	123220813	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2745903	123220813	17992618	780	21374											
FBXW2	26190	broad.mit.edu	37	chr9	123526872	123526872	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacaacaccaggtgaatacTgtggtcaggcatgctggtgg	13	10	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:123526872T>C	uc004bkl.1	-	8	1491	c.1330A>G	c.(1330-1332)AGT>GGT	p.S444G	FBXW2_uc011lyc.1_Missense_Mutation_p.S315G|FBXW2_uc004bkn.2_Missense_Mutation_p.S476G|FBXW2_uc004bkm.1_Missense_Mutation_p.S444G|FBXW2_uc010mvj.1_Missense_Mutation_p.S379G	NM_012164	NP_036296	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	444					proteolysis		protein binding|ubiquitin-protein ligase activity			urinary_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						AGGTGAATACTGTGGTCAGGC	0.592													C	123526872	T	C	123526872	3	2	23	1	0	0	0	0	1	0	0	0	5766	1580	55	3	38	3	FBXW2	9	123526872	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	306059	123526872	17686559	781	21375											
C5	727	broad.mit.edu	37	chr9	123723809	123723809	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagactttctgaattttgatAttggaagtgctataaaacat	7	5	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:123723809A>G	uc004bkv.2	-	37	4569	c.4539T>C	c.(4537-4539)AAT>AAC	p.N1513N		NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	1513					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GAATTTTGATATTGGAAGTGC	0.363													G	123723809	A	G	123723809	2	3	23	1	0	0	0	0	0	0	0	1	2280	446	16	3		3	C5	9	123723809	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	196937	123723809	17489622	782	21376											
ZBTB26	57684	broad.mit.edu	37	chr9	125681387	125681387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacaccctggtacactttGggcactggtgatgccactgt	11	11	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:125681387G>A	uc004bnj.2	-	2	1039	c.827C>T	c.(826-828)CCA>CTA	p.P276L	ZBTB26_uc004bnk.2_Missense_Mutation_p.P276L	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	276	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGTACACTTTGGGCACTGGTG	0.453													A	125681387	G	A	125681387	3	1	23	1	0	0	0	0	1	0	0	0	17530	1348	47	4	502	4	ZBTB26	9	125681387	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1957578	125681387	15532044	783	21377											
SCAI	286205	broad.mit.edu	37	chr9	127733710	127733710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatcttgtgaggagcaagCgaagaaattcatctccaaaa	8	7	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:127733710C>T	uc004bpe.2	-	17	1694	c.1613G>A	c.(1612-1614)CGC>CAC	p.R538H	SCAI_uc004bpd.2_Missense_Mutation_p.R561H|SCAI_uc010mwu.2_RNA	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion isoform 2	538					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			ovary(2)|breast(2)|central_nervous_system(1)	5						GAGGAGCAAGCGAAGAAATTC	0.358													T	127733710	C	T	127733710	3	4	23	1	0	0	0	0	1	0	0	0	13869	768	27	1	215	1	SCAI	9	127733710	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2052323	127733710	13479721	784	21378											
HSPA5	3309	broad.mit.edu	37	chr9	128001567	128001567	+	Frame_Shift_Del	DEL	C	C	-													aaacaccaggatgttcttctCcccctccctcttatccaggc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:128001566_128001566TC>T	uc004bpn.3	-	4	911	c.650_650GA>A	c.(649-651)gagfs	p.E217fs		NM_005347	NP_005338	P11021	GRP78_HUMAN	Homo sapiens heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5), mRNA.	217					ER-associated protein catabolic process|anti-apoptosis|cellular response to glucose starvation|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	GATGTTCTTCTCCCCCTCCCT	0.458										Prostate(1;0.17)			-	128001567	C	-	128001567	7	5	23	1	0	1	0	1	0	0	0	0	7414	864	30	0	1331	0	HSPA5	9	128001567	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	267857	128001567	13211864	785	21379											
TTC16	158248	broad.mit.edu	37	chr9	130486410	130486410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccgacaggggcaccatgtAccgacggctccaggagttcg	13	15	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:130486410A>G	uc004brq.1	+	8	951	c.884A>G	c.(883-885)TAC>TGC	p.Y295C	PTRH1_uc011mah.1_Intron|TTC16_uc011mai.1_Missense_Mutation_p.Y282C|TTC16_uc004brr.1_Missense_Mutation_p.Y240C|TTC16_uc010mxn.1_5'UTR	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	295	TPR 5.						binding				0						GGCACCATGTACCGACGGCTC	0.672													G	130486410	A	G	130486410	3	3	23	1	0	0	0	0	1	0	0	0	16680	391	14	3	914	3	TTC16	9	130486410	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	2484843	130486410	10727021	786	21380											
PTGES2	80142	broad.mit.edu	37	chr9	130884666	130884666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgagattcggcttctggCcccccatgaagggccggtcc	13	15	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:130884666C>T	uc004bti.2	-	6	1458	c.980G>A	c.(979-981)GGC>GAC	p.G327D	PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_Missense_Mutation_p.G136D|PTGES2_uc004btl.2_Missense_Mutation_p.G136D|PTGES2_uc004btm.2_RNA	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	327	GST C-terminal.|Cytoplasmic (Potential).				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity				0						CGGCTTCTGGCCCCCCATGAA	0.637													T	130884666	C	T	130884666	3	4	23	1	0	0	0	0	1	0	0	0	12747	739	26	2	161	2	PTGES2	9	130884666	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	398256	130884666	10328765	787	21381											
GOLGA2	2801	broad.mit.edu	37	chr9	131022375	131022375	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtttccttcagctcgctcaGcttctcctgcagctcgccca	7	18	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:131022375G>A	uc011maw.1	-	18	1784	c.1771C>T	c.(1771-1773)CTG>TTG	p.L591L	GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_Silent_p.L64L	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	591	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						AGCTCGCTCAGCTTCTCCTGC	0.622													A	131022375	G	A	131022375	2	1	23	1	0	0	0	0	0	0	0	1	6552	962	34	2		2	GOLGA2	9	131022375	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	137709	131022375	10191056	788	21382											
ZER1	10444	broad.mit.edu	37	chr9	131495728	131495728	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatttccttggtctcctgCcgtgcggtcgccatcttaat	9	14	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:131495728C>T	uc004bwa.1	-	15	2653	c.2220G>A	c.(2218-2220)CGG>CGA	p.R740R		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	740	ARM 5.				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						TGGTCTCCTGCCGTGCGGTCG	0.572											OREG0019523	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	131495728	C	T	131495728	2	4	23	1	0	0	0	0	0	0	0	1	17622	726	26	2		2	ZER1	9	131495728	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	473353	131495728	9717703	789	21383											
FAM73B	84895	broad.mit.edu	37	chr9	131832626	131832626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctgcagctgtcccggcGccgcagcgagatattgctgg	13	14	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:131832626G>A	uc004bxa.2	+	16	1862	c.1676G>A	c.(1675-1677)CGC>CAC	p.R559H	FAM73B_uc004bwy.2_RNA|FAM73B_uc004bwz.2_RNA|FAM73B_uc004bxb.2_Missense_Mutation_p.R135H	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	hypothetical protein LOC84895	559						integral to membrane				skin(1)	1						CTGTCCCGGCGCCGCAGCGAG	0.667													A	131832626	G	A	131832626	3	1	23	1	0	0	0	0	1	0	0	0	5618	1087	38	1	1734	1	FAM73B	9	131832626	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	336898	131832626	9380805	790	21384											
PPP2R4	5524	broad.mit.edu	37	chr9	131898802	131898802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catacaggatggagccagccGgcagccagggagtgtggggt	18	9	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:131898802G>A	uc004bxm.1	+	8	985	c.718G>A	c.(718-720)GGC>AGC	p.G240S	PPP2R4_uc004bxl.1_Missense_Mutation_p.G205S|PPP2R4_uc011mbo.1_Missense_Mutation_p.G240S|PPP2R4_uc010myr.1_Intron|PPP2R4_uc004bxn.1_Missense_Mutation_p.G205S|PPP2R4_uc004bxo.1_Missense_Mutation_p.G163S|PPP2R4_uc011mbp.1_Missense_Mutation_p.G176S|PPP2R4_uc011mbq.1_Missense_Mutation_p.G163S|PPP2R4_uc010mys.1_Missense_Mutation_p.G170S|PPP2R4_uc011mbr.1_5'Flank	NM_178001	NP_821068	Q15257	PTPA_HUMAN	protein phosphatase 2A, regulatory subunit B'	240	ATP.			G->D: Impairs ATPase activity of the PP2A(D):PPP2R4 complex; no effect on interaction with the PP2A(D) complex.	ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			ovary(1)|lung(1)|pancreas(1)	3		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		GGAGCCAGCCGGCAGCCAGGG	0.537													A	131898802	G	A	131898802	3	1	23	1	0	0	0	0	1	0	0	0	12391	1116	39	1	748	1	PPP2R4	9	131898802	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	66176	131898802	9314629	791	21385											
RAPGEF1	2889	broad.mit.edu	37	chr9	134455650	134455650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggggcagtggcactcacGcctgctggaagcagcgcatg	15	14	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:134455650G>A	uc004cbc.2	-	23	3213	c.3083C>T	c.(3082-3084)GCG>GTG	p.A1028V	RAPGEF1_uc004cbb.2_Missense_Mutation_p.A1046V	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	1028	Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TGGCACTCACGCCTGCTGGAA	0.642													A	134455650	G	A	134455650	3	1	23	1	0	0	0	0	1	0	0	0	13043	1101	38	1	158	1	RAPGEF1	9	134455650	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2556848	134455650	6757781	792	21386											
RAPGEF1	2889	broad.mit.edu	37	chr9	134464198	134464198	+	Frame_Shift_Del	DEL	C	C	-													ggcttctcacctggctgctaCcccccgggctgccaggggct							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:134464198delC	uc004cbc.2	-	17	2615	c.2485delG	c.(2485-2487)GTAfs	p.V829fs	RAPGEF1_uc004cbb.2_Frame_Shift_Del_p.V847fs	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	829					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CTGGCTGCTACCCCCCGGGCT	0.657													-	134464198	C	-	134464198	7	5	23	1	0	1	0	1	0	0	0	0	13043	507	18	0	780	0	RAPGEF1	9	134464198	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	8548	134464198	6749233	793	21387											
SETX	23064	broad.mit.edu	37	chr9	135176111	135176111	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatctttcttctcttcattTattctctcaggagctaaaaa	4	9	6	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:135176111T>C	uc004cbk.2	-	12	5637	c.5454A>G	c.(5452-5454)ATA>ATG	p.I1818M	SETX_uc004cbj.2_Missense_Mutation_p.I1437M|SETX_uc010mzt.2_Missense_Mutation_p.I1437M	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	1818					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCTCTTCATTTATTCTCTCAG	0.368													C	135176111	T	C	135176111	3	2	23	1	0	0	0	0	1	0	0	0	14141	1744	61	3	2639	3	SETX	9	135176111	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	711913	135176111	6037320	794	21388											
TTF1	7270	broad.mit.edu	37	chr9	135277202	135277202	+	Frame_Shift_Del	DEL	T	T	-													cctggtgattggactttttcTtttttttcttagacttgttt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:135277201_135277201CT>C	uc004cbl.3	-	1	1077	c.1008_1008AG>G	c.(1006-1008)aagfs	p.K336fs	TTF1_uc004cbm.3_Intron|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	336	Poly-Lys.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TGGACTTTTTCTTTTTTTTCT	0.507													-	135277202	T	-	135277202	7	5	23	1	0	1	0	1	0	0	0	0	16715	1609	56	0	1750	0	TTF1	9	135277202	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	101091	135277202	5936229	795	21389											
RALGDS	5900	broad.mit.edu	37	chr9	135978272	135978272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcagcttgatctgggCgatcacctcgaactcctggg	12	13	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:135978272C>T	uc004cco.2	-	13	1827	c.1807G>A	c.(1807-1809)GCC>ACC	p.A603T	RALGDS_uc004ccn.2_5'Flank|RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.A591T|RALGDS_uc004ccr.2_Missense_Mutation_p.A602T|RALGDS_uc011mcv.1_Missense_Mutation_p.A574T|RALGDS_uc004ccs.2_Missense_Mutation_p.A548T|RALGDS_uc011mcw.1_Missense_Mutation_p.A674T|RALGDS_uc004ccv.1_Missense_Mutation_p.A372T|RALGDS_uc004ccu.1_Missense_Mutation_p.A372T	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	603	Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TTGATCTGGGCGATCACCTCG	0.647			T	CIITA	PMBL|Hodgkin Lymphona|						OREG0019581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	135978272	C	T	135978272	3	4	23	1	0	0	0	0	1	0	0	0	13016	768	27	1	961	1	RALGDS	9	135978272	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	701070	135978272	5235159	796	21390											
SURF1	6834	broad.mit.edu	37	chr9	136221754	136221755	+	Frame_Shift_Ins	INS	-	-	T													gaaaggagtcatcttccgctINStttgtggcagatgcttctgc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:136221753_136221754C>CT	uc004cdh.1	-	2	197_198	c.165_166G>AG	c.(163-168)aaagcgfs	p.K55fs	SURF2_uc004cdi.2_5'Flank	NM_003172	NP_003163	Q15526	SURF1_HUMAN	Homo sapiens surfeit 1 (SURF1), nuclear gene encoding mitochondrial protein, mRNA.	55					aerobic respiration|respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			breast(2)|endometrium(1)|ovary(2)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)		TCATCTTCCGCTTTTGTGGCAG	0.564													T	136221755	-	T	136221754	7	5	23	1	0	1	1	0	0	0	0	0	15400	1606	56	0	765	0	SURF1	9	136221754	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	243482	136221754	4991677	797	21391											
ADAMTS13	11093	broad.mit.edu	37	chr9	136319630	136319630	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagctcgaccaaggccaGgacgtggaggtggacgaggc	18	10	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:136319630G>T	uc004cdv.3	+	24	3582	c.3138G>T	c.(3136-3138)CAG>CAT	p.Q1046H	ADAMTS13_uc004cdp.3_Missense_Mutation_p.Q273H|ADAMTS13_uc004cdt.1_Missense_Mutation_p.Q1046H|ADAMTS13_uc004cdu.1_Missense_Mutation_p.Q1015H|ADAMTS13_uc004cdw.3_Missense_Mutation_p.Q1046H|ADAMTS13_uc004cdx.3_Missense_Mutation_p.Q1015H|ADAMTS13_uc004cdz.3_Missense_Mutation_p.Q716H|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.3_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1046	TSP type-1 7.				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)		ACCAAGGCCAGGACGTGGAGG	0.662													T	136319630	G	T	136319630	3	4	23	1	0	0	0	0	1	0	0	0	258	991	35	5	3232	5	ADAMTS13	9	136319630	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	97876	136319630	4893801	798	21392											
WDR5	11091	broad.mit.edu	37	chr9	137023052	137023054	+	In_Frame_Del	DEL	CAT	CAT	-													gcttgtcacccaacagaaaaCatcatcgcctctgctgcgct							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:137023051_137023053ACAT>A	uc004cey.3	+	13	1112_1114	c.941_943ACAT>A	c.(940-945)aacatc>aAtc	p.I316del	WDR5_uc004cez.3_In_Frame_Del_p.I316del	NM_017588	NP_438172	P61964	WDR5_HUMAN	Homo sapiens WD repeat domain 5 (WDR5), transcript variant 1, mRNA.	316					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		CCAACAGAAAACATCATCGCCTC	0.517													-	137023054	CAT	-	137023052	7	5	23	1	0	1	0	1	0	0	0	0	17300	477	17	0	992	0	WDR5	9	137023052	In_Frame_Del	DEL	CAT	TCGA-BR-4368-01A-01D-1158-08	703422	137023052	4190379	799	21393											
LCN9	392399	broad.mit.edu	37	chr9	138557130	138557130	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtctcggagactgactAcaggctgttcatcaccttcc	10	14	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:138557130A>G	uc004cgk.1	+	4	347	c.347A>G	c.(346-348)TAC>TGC	p.Y116C		NM_001001676	NP_001001676	Q8WX39	LCN9_HUMAN	lipocalin 9	116						extracellular region	pheromone binding|transporter activity			large_intestine(2)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		GAGACTGACTACAGGCTGTTC	0.632													G	138557130	A	G	138557130	3	3	23	1	0	0	0	0	1	0	0	0	8687	391	14	3	361	3	LCN9	9	138557130	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	1534078	138557130	2656301	800	21394											
KCNT1	57582	broad.mit.edu	37	chr9	138667192	138667192	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcccaactcgccctacatCggcagctccccaaccctgtg	6	21	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:138667192C>T	uc011mdq.1	+	20	2354	c.2280C>T	c.(2278-2280)ATC>ATT	p.I760I	KCNT1_uc011mdr.1_Silent_p.I587I|KCNT1_uc010nbf.2_Silent_p.I715I|KCNT1_uc004cgo.1_Silent_p.I509I	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	760						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CGCCCTACATCGGCAGCTCCC	0.662													T	138667192	C	T	138667192	2	4	23	1	0	0	0	0	0	0	0	1	8091	874	31	1		1	KCNT1	9	138667192	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	110062	138667192	2546239	801	21395											
CAMSAP1	157922	broad.mit.edu	37	chr9	138742178	138742178	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgttattaccttcaacactAatggcgcatacagcatatct	5	11	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:138742178A>G	uc004cgr.3	-	6	938	c.938T>C	c.(937-939)TTA>TCA	p.L313S	CAMSAP1_uc004cgq.3_Missense_Mutation_p.L203S|CAMSAP1_uc010nbg.2_Missense_Mutation_p.L35S	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	313	CH.					cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTTCAACACTAATGGCGCATA	0.338													G	138742178	A	G	138742178	3	3	23	1	0	0	0	0	1	0	0	0	2611	372	13	3	3918	3	CAMSAP1	9	138742178	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	74986	138742178	2471253	802	21396											
C9orf69	90120	broad.mit.edu	37	chr9	139008560	139008560	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcgccgcagtgaacaggcTgcagctaaagtagagtagga	15	8	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:139008560T>C	uc004cgx.3	-	2	712	c.261A>G	c.(259-261)GCA>GCG	p.A87A	C9orf69_uc004cgy.2_RNA	NM_152833	NP_690046			hypothetical protein LOC90120												0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GTGAACAGGCTGCAGCTAAAG	0.622													C	139008560	T	C	139008560	2	2	23	1	0	0	0	0	0	0	0	1	2492	1567	55	3		3	C9orf69	9	139008560	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	266382	139008560	2204871	803	21397											
SNAPC4	6621	broad.mit.edu	37	chr9	139275256	139275257	+	Frame_Shift_Del	DEL	CT	CT	-													gcctgggtggcagggccttcCtctctcggacgacctccaag							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:139275255_139275256CCT>C	uc004chh.3	-	18	2444_2445	c.2435_2436AGG>G	c.(2434-2436)aggfs	p.R812fs		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	812					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GCAGGGCCTTCCTCTCTCGGAC	0.619													-	139275257	CT	-	139275256	7	5	23	1	0	1	0	1	0	0	0	0	14837	681	24	0	1990	0	SNAPC4	9	139275256	Frame_Shift_Del	DEL	CT	TCGA-BR-4368-01A-01D-1158-08	266696	139275256	1938175	804	21398											
SEC16A	9919	broad.mit.edu	37	chr9	139358175	139358175	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatctcctcctgctcagaCgtgtgctgcagcaaggccta	10	15	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:139358175C>T	uc004chx.2	-	10	4773	c.4464G>A	c.(4462-4464)ACG>ACA	p.T1488T	SEC16A_uc004chv.3_Silent_p.T878T|SEC16A_uc004chw.2_Silent_p.T1488T|SEC16A_uc010nbn.2_Silent_p.T1488T	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1310					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCTGCTCAGACGTGTGCTGCA	0.642													T	139358175	C	T	139358175	2	4	23	1	0	0	0	0	0	0	0	1	13986	523	19	1		1	SEC16A	9	139358175	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	82919	139358175	1855256	805	21399											
KIAA1984	84960	broad.mit.edu	37	chr9	139694927	139694927	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgctgtatttggacctGctggattatctgaagacagt	10	9	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:139694927G>A	uc004cjf.2	+	5	573	c.525G>A	c.(523-525)CTG>CTA	p.L175L		NM_001039374	NP_001034463	Q5T5S1	K1984_HUMAN	hypothetical protein LOC84960	175	Potential.									ovary(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		ATTTGGACCTGCTGGATTATC	0.627													A	139694927	G	A	139694927	2	1	23	1	0	0	0	0	0	0	0	1	8266	1306	46	2		2	KIAA1984	9	139694927	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	336752	139694927	1518504	806	21400											
ABCA2	20	broad.mit.edu	37	chr9	139905558	139905558	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcatcttgtcaaactggcCtgcggggagacagctcaggg	13	11	4	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:139905558C>A	uc011mem.1	-	38	6069	c.5921_splice	c.e38-1	p.G1974_splice	ABCA2_uc011mel.1_Splice_Site_p.G1975_splice|ABCA2_uc004ckl.1_Splice_Site_p.G1905_splice|ABCA2_uc004ckm.1_Splice_Site_p.G2005_splice	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2						cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCAAACTGGCCTGCGGGGAGA	0.662													A	139905558	C	A	139905558	5	1	23	1	0	0	0	0	0	0	1	0	32	695	24	5	1431	5	ABCA2	9	139905558	Splice_Site	SNP	C	TCGA-BR-4368-01A-01D-1158-08	210631	139905558	1307873	807	21401											
DPP7	29952	broad.mit.edu	37	chr9	140006327	140006327	+	Splice_Site	DEL	C	C	-													accccccctcagccttaccaCccccccagaagctggtcagc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:140006326_140006326AC>A	uc004clh.3	-	10	1237	c.1207_splice	c.e10+1	p.D403_splice		NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	Homo sapiens dipeptidyl-peptidase 7 (DPP7), mRNA.	403						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity	p.D403fs*1(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		CAGCCTTACCACCCCCCCAGA	0.701													-	140006327	C	-	140006327	8	5	23	1	0	1	0	1	0	0	1	0	4731	507	18	0	289	0	DPP7	9	140006327	Splice_Site	DEL	C	TCGA-BR-4368-01A-01D-1158-08	100769	140006327	1207104	808	21402											
CACNA1B	774	broad.mit.edu	37	chr9	140880954	140880954	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgctcttcctgttcaTtgtggtcttcgccctgctgg	9	13	4	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:140880954T>C	uc004cog.2	+	14	2004	c.1859T>C	c.(1858-1860)ATT>ACT	p.I620T	CACNA1B_uc011mfd.1_Missense_Mutation_p.I151T	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	620	Helical; Name=S5 of repeat II; (Potential).|II.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TTCCTGTTCATTGTGGTCTTC	0.607													C	140880954	T	C	140880954	3	2	23	1	0	0	0	0	1	0	0	0	2539	1493	52	3	1913	3	CACNA1B	9	140880954	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	874627	140880954	332477	809	21403											
CACNA1B	774	broad.mit.edu	37	chr9	140968005	140968005	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctgatcaagctgctccgCcagggctacaccatccgcat	10	16	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:140968005C>T	uc004cog.2	+	32	4885	c.4740C>T	c.(4738-4740)CGC>CGT	p.R1580R	CACNA1B_uc004coi.2_Silent_p.R792R|CACNA1B_uc004cok.1_5'Flank|CACNA1B_uc010ncp.1_5'Flank	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1580	Helical; Name=S4 of repeat IV; (Potential).|IV.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGCTGCTCCGCCAGGGCTACA	0.572													T	140968005	C	T	140968005	2	4	23	1	0	0	0	0	0	0	0	1	2539	726	26	2		2	CACNA1B	9	140968005	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	87051	140968005	245426	810	21404											
DIP2C	22982	broad.mit.edu	37	chr10	412274	412275	+	Frame_Shift_Ins	INS	-	-	CA													gacgtgcccgtcgcaactgcINSacacacacacagctccccga							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:412273_412274G>GCA	uc001ifp.3	-	18	2299_2300	c.2209_2210C>TGC	c.(2209-2211)gcafs	p.A737fs	DIP2C_uc009xhi.1_Frame_Shift_Ins_p.A123fs|DIP2C_uc010pzz.1_Frame_Shift_Ins_p.A58fs	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	737						nucleus	catalytic activity|transcription factor binding	p.A737fs*15(2)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGTCGCAACTGCACACACACAC	0.545													CA	412275	-	CA	412274	7	5	23	1	0	1	1	0	0	0	0	0	4529	710	25	0	2537	0	DIP2C	10	412274	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08		412274	135122473	811	21405											
LARP4B	23185	broad.mit.edu	37	chr10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-													agataagcagaattccaatgTttttttaagtacttctcggg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:890938_890938GT>G	uc001ifs.1	-	4	529	c.488_488AC>C	c.(487-489)acafs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	163	HTH La-type RNA-binding.						RNA binding|nucleotide binding	p.T163P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GAATTCCAATGTTTTTTTAAG	0.353													-	890939	T	-	890939	7	5	23	1	0	1	0	1	0	0	0	0	8631	1725	60	0	1781	0	LARP4B	10	890939	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	478665	890939	134643808	812	21406											
CELF2	10659	broad.mit.edu	37	chr10	11317065	11317065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacctgggtgcgttcagcGgcattcaacaaatggcaggt	13	10	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:11317065G>A	uc001iki.3	+	8	894	c.802G>A	c.(802-804)GGC>AGC	p.G268S	CELF2_uc010qbi.1_Missense_Mutation_p.G40S|CELF2_uc010qbj.1_Missense_Mutation_p.G268S|CELF2_uc001ikk.2_Missense_Mutation_p.G275S|CELF2_uc001ikl.3_Missense_Mutation_p.G275S|CELF2_uc010qbk.1_RNA|CELF2_uc010qbl.1_Missense_Mutation_p.G244S|CELF2_uc010qbm.1_Missense_Mutation_p.G40S|CELF2_uc001iko.3_Missense_Mutation_p.G244S|CELF2_uc001ikp.3_Missense_Mutation_p.G244S|CELF2_uc010qbn.1_Missense_Mutation_p.G252S|CELF2_uc010qbo.1_Missense_Mutation_p.G157S|CELF2_uc010qbp.1_Missense_Mutation_p.G40S	NM_001025077	NP_001020248	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2	268	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0						TGCGTTCAGCGGCATTCAACA	0.542													A	11317065	G	A	11317065	3	1	23	1	0	0	0	0	1	0	0	0	3216	1116	39	1	910	1	CELF2	10	11317065	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	10426126	11317065	124217682	813	21407											
USP6NL	9712	broad.mit.edu	37	chr10	11505504	11505504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctgatatttgaagtggCgttgctattttggttggcag	12	6	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:11505504C>T	uc001ikt.3	-	15	1744	c.1423G>A	c.(1423-1425)GCC>ACC	p.A475T	USP6NL_uc001iks.1_Missense_Mutation_p.A492T	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	475						intracellular	Rab GTPase activator activity				0						TTTGAAGTGGCGTTGCTATTT	0.453													T	11505504	C	T	11505504	3	4	23	1	0	0	0	0	1	0	0	0	17084	768	27	1	1067	1	USP6NL	10	11505504	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	188439	11505504	124029243	814	21408											
C10orf47	254427	broad.mit.edu	37	chr10	11894126	11894126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgacatgaactcagacaCgtcccccagctgcaggctcc	8	16	2	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:11894126C>T	uc001ikx.2	+	2	204	c.50C>T	c.(49-51)ACG>ATG	p.T17M	uc001iky.1_Intron	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN	hypothetical protein LOC254427	17	Ser-rich.									central_nervous_system(1)	1						AACTCAGACACGTCCCCCAGC	0.602													T	11894126	C	T	11894126	3	4	23	1	0	0	0	0	1	0	0	0	1605	536	19	1	52	1	C10orf47	10	11894126	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	388622	11894126	123640621	815	21409											
NMT2	9397	broad.mit.edu	37	chr10	15183500	15183500	+	Frame_Shift_Del	DEL	T	T	-													ctccggaatttggtttctccTtttttctcttctgtttcttc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:15183499_15183499CT>C	uc001inz.1	-	1	252	c.168_168AG>G	c.(166-168)aagfs	p.K56fs	NMT2_uc001ioa.1_Frame_Shift_Del_p.R29fs|NMT2_uc010qbz.1_5'UTR	NM_004808	NP_004799	O60551	NMT2_HUMAN	Homo sapiens N-myristoyltransferase 2 (NMT2), mRNA.	56	Poly-Lys.				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TTGGTttctccttttttctct	0.413													-	15183500	T	-	15183500	7	5	23	1	0	1	0	1	0	0	0	0	10504	1609	56	0	1373	0	NMT2	10	15183500	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	3289374	15183500	120351247	816	21410											
CUBN	8029	broad.mit.edu	37	chr10	16979614	16979614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaatggtaggtaaaacaCcatcaggtgcatccactgca	10	10	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:16979614C>T	uc001ioo.2	-	39	5955	c.5903G>A	c.(5902-5904)GGT>GAT	p.G1968D		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1968					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGTAAAACACCATCAGGTGC	0.413													T	16979614	C	T	16979614	3	4	23	1	0	0	0	0	1	0	0	0	4051	507	18	4	5084	4	CUBN	10	16979614	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1796114	16979614	118555133	817	21411											
CUBN	8029	broad.mit.edu	37	chr10	17107617	17107617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgcttgtgagagatggcGggatcgactttccacagtat	12	9	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:17107617G>A	uc001ioo.2	-	22	3081	c.3029C>T	c.(3028-3030)CCG>CTG	p.P1010L		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1010	CUB 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGAGATGGCGGGATCGACTT	0.393													A	17107617	G	A	17107617	3	1	23	1	0	0	0	0	1	0	0	0	4051	1116	39	1	8026	1	CUBN	10	17107617	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	128003	17107617	118427130	818	21412											
PTPLA	9200	broad.mit.edu	37	chr10	17636319	17636319	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcacatgcggcaaggcAgcgtatattgtaagaagttc	10	8	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:17636319A>G	uc001ipg.2	-	6	704	c.669T>C	c.(667-669)GCT>GCC	p.A223A		NM_014241	NP_055056	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like, member A	223	Lumenal (Potential).				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			central_nervous_system(1)|skin(1)	2						GCGGCAAGGCAGCGTATATTG	0.323													G	17636319	A	G	17636319	2	3	23	1	0	0	0	0	0	0	0	1	12774	175	7	3		3	PTPLA	10	17636319	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	528702	17636319	117898428	819	21413											
MRC1	4360	broad.mit.edu	37	chr10	17865318	17865318	+	Frame_Shift_Del	DEL	A	A	-													aatttcagaaatgggagtgcAaaaatgacacacttttgggg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:17865317_17865317CA>C	uc001ipk.3	+	1	409	c.306_306CA>C	c.(304-306)tgcfs	p.C102fs		NM_002438	NP_002429	P22897	MRC1_HUMAN	Homo sapiens mannose receptor, C type 1 (MRC1), mRNA.	102	Ricin B-type lectin.				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity			breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						AATGGGAGTGCAAAAATGACA	0.383													-	17865318	A	-	17865318	7	5	23	1	0	1	0	1	0	0	0	0	9756	131	5	0	313	0	MRC1	10	17865318	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	228999	17865318	117669429	820	21414											
NEBL	10529	broad.mit.edu	37	chr10	21147169	21147169	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctagatgaaccacttacGccgctgagcattttgctggc	10	13	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:21147169G>A	uc001iqi.2	-	9	1300	c.903C>T	c.(901-903)GGC>GGT	p.G301G	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	301	Nebulin 8.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						AACCACTTACGCCGCTGAGCA	0.448													A	21147169	G	A	21147169	2	1	23	1	0	0	0	0	0	0	0	1	10303	1101	38	1		1	NEBL	10	21147169	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3281851	21147169	114387578	821	21415											
KIAA1217	56243	broad.mit.edu	37	chr10	24727369	24727369	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaaggatcctgcacatgcGtttaatcacacaccaaaaac	5	12	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:24727369G>A	uc001iru.3	+	5	1210	c.807G>A	c.(805-807)GCG>GCA	p.A269A	KIAA1217_uc001irs.2_Silent_p.A189A|KIAA1217_uc001irt.3_Silent_p.A269A|KIAA1217_uc010qcy.1_Silent_p.A269A|KIAA1217_uc010qcz.1_Silent_p.A269A|KIAA1217_uc001irv.1_Silent_p.A119A|KIAA1217_uc010qda.1_RNA	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	269					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						CTGCACATGCGTTTAATCACA	0.408													A	24727369	G	A	24727369	2	1	23	1	0	0	0	0	0	0	0	1	8216	1132	40	1		1	KIAA1217	10	24727369	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3580200	24727369	110807378	822	21416											
MYO3A	53904	broad.mit.edu	37	chr10	26359255	26359255	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctatgtatagtgcattgtTatttctggagaaagtggtgc	11	4	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:26359255T>C	uc001isn.2	+	14	1644	c.1284T>C	c.(1282-1284)GTT>GTC	p.V428V	MYO3A_uc009xko.1_Silent_p.V428V|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Silent_p.V428V	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	428	Myosin head-like.				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						AGTGCATTGTTATTTCTGGAG	0.343													C	26359255	T	C	26359255	2	2	23	1	0	0	0	0	0	0	0	1	10076	1741	61	3		3	MYO3A	10	26359255	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	1631886	26359255	109175492	823	21417											
SVIL	6840	broad.mit.edu	37	chr10	29821497	29821497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttggcagatgccaggaacGcacttcggagctgggcgaca	15	11	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:29821497G>A	uc001iut.1	-	8	2552	c.1799C>T	c.(1798-1800)GCG>GTG	p.A600V	SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.A600V	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	600					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TGCCAGGAACGCACTTCGGAG	0.582													A	29821497	G	A	29821497	3	1	23	1	0	0	0	0	1	0	0	0	15418	1087	38	1	4969	1	SVIL	10	29821497	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3462242	29821497	105713250	824	21418											
ZNF438	220929	broad.mit.edu	37	chr10	31134090	31134090	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gagaaacgtgtggaggccagGacactcagggccctggcagg	17	10	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:31134090G>T	uc010qdz.1	-	8	2722	c.2287C>A	c.(2287-2289)CCT>ACT	p.P763T	ZNF438_uc001ivn.2_Missense_Mutation_p.P714T|ZNF438_uc010qdy.1_Missense_Mutation_p.P753T|ZNF438_uc001ivo.3_Missense_Mutation_p.P327T|ZNF438_uc009xlg.2_Missense_Mutation_p.P763T|ZNF438_uc001ivp.3_Missense_Mutation_p.P753T|ZNF438_uc010qea.1_Missense_Mutation_p.P763T|ZNF438_uc010qeb.1_Missense_Mutation_p.P763T	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				TGGAGGCCAGGACACTCAGGG	0.547													T	31134090	G	T	31134090	3	4	23	1	0	0	0	0	1	0	0	0	17907	1174	41	5	203	5	ZNF438	10	31134090	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1312593	31134090	104400657	825	21419											
ZNF438	220929	broad.mit.edu	37	chr10	31139183	31139183	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaatgacatggcaGcattctggacgttaggactt	13	6	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:31139183G>A	uc010qdz.1	-	7	586	c.151C>T	c.(151-153)CTG>TTG	p.L51L	ZNF438_uc001ivn.2_Silent_p.L2L|ZNF438_uc010qdy.1_Silent_p.L41L|ZNF438_uc001ivo.3_5'UTR|ZNF438_uc009xlg.2_Silent_p.L51L|ZNF438_uc001ivp.3_Silent_p.L41L|ZNF438_uc010qea.1_Silent_p.L51L|ZNF438_uc010qeb.1_Silent_p.L51L|ZNF438_uc010qec.1_5'UTR	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				TGACATGGCAGCATTCTGGAC	0.488													A	31139183	G	A	31139183	2	1	23	1	0	0	0	0	0	0	0	1	17907	962	34	2		2	ZNF438	10	31139183	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	5093	31139183	104395564	826	21420											
RASGEF1A	221002	broad.mit.edu	37	chr10	43696165	43696165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagggggtcgcagcacaCgcccaggatgtccttctggg	14	14	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:43696165C>T	uc001jap.1	-	5	712	c.631G>A	c.(631-633)GTG>ATG	p.V211M	RASGEF1A_uc001jao.1_Missense_Mutation_p.V219M	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	211					cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						TCGCAGCACACGCCCAGGATG	0.652													T	43696165	C	T	43696165	3	4	23	1	0	0	0	0	1	0	0	0	13069	536	19	1	850	1	RASGEF1A	10	43696165	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	12556982	43696165	91838582	827	21421											
RASSF4	83937	broad.mit.edu	37	chr10	45487447	45487447	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaataatcaaactgaccaTgaagtaagcagcacttaaac	6	8	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:45487447T>C	uc001jbo.2	+	10	1036	c.902T>C	c.(901-903)ATG>ACG	p.M301T	RASSF4_uc001jbp.2_Missense_Mutation_p.M332T|RASSF4_uc009xmn.2_Missense_Mutation_p.M231T|RASSF4_uc001jbq.2_Missense_Mutation_p.M198T|RASSF4_uc001jbt.2_Missense_Mutation_p.M258T	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN	Ras association domain family 4	301	SARAH.				cell cycle|signal transduction		protein binding			large_intestine(1)	1						AAACTGACCATGAAGTAAGCA	0.453													C	45487447	T	C	45487447	3	2	23	1	0	0	0	0	1	0	0	0	13088	1464	51	3	936	3	RASSF4	10	45487447	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	1791282	45487447	90047300	828	21422											
ANUBL1	93550	broad.mit.edu	37	chr10	46121425	46121425	+	Frame_Shift_Del	DEL	G	G	-													aactcctgtatgttctaactGgggagaacttttcctaaagt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:46121425delG	uc001jcp.3	-	7	2088	c.1846delC	c.(1846-1848)CAGfs	p.Q616fs	ANUBL1_uc001jcl.3_Frame_Shift_Del_p.Q136fs|ANUBL1_uc001jcm.3_Frame_Shift_Del_p.Q616fs|ANUBL1_uc009xmu.2_Frame_Shift_Del_p.Q542fs|ANUBL1_uc001jcn.3_Frame_Shift_Del_p.Q542fs|ANUBL1_uc001jco.3_Intron	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN	AN1, ubiquitin-like, homolog	616							zinc ion binding				0						TGTTCTAACTGGGGAGAACTT	0.408													-	46121425	G	-	46121425	7	5	23	1	0	1	0	1	0	0	0	0	713	1357	47	0	353	0	ANUBL1	10	46121425	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	633978	46121425	89413322	829	21423											
SLC18A3	6572	broad.mit.edu	37	chr10	50820184	50820184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctctatgctcccgtcttGctgctgctccgcaacgtggg	11	15	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:50820184G>A	uc001jhw.2	+	1	1838	c.1398G>A	c.(1396-1398)TTG>TTA	p.L466L	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	466	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						CTCCCGTCTTGCTGCTGCTCC	0.647													A	50820184	G	A	50820184	2	1	23	1	0	0	0	0	0	0	0	1	14427	1310	46	2		2	SLC18A3	10	50820184	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	4698759	50820184	84714563	830	21424											
CHAT	1103	broad.mit.edu	37	chr10	50863204	50863204	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgattccaggagggacgCgtggacaacatcagatcggc	14	12	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:50863204C>T	uc001jhz.2	+	12	1851	c.1698C>T	c.(1696-1698)CGC>CGT	p.R566R	CHAT_uc001jhv.1_Silent_p.R448R|CHAT_uc001jhx.1_Silent_p.R448R|CHAT_uc001jhy.1_Silent_p.R448R|CHAT_uc001jia.2_Silent_p.R448R|CHAT_uc010qgs.1_Silent_p.R448R	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	566					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	AGGAGGGACGCGTGGACAACA	0.597													T	50863204	C	T	50863204	2	4	23	1	0	0	0	0	0	0	0	1	3313	755	27	1		1	CHAT	10	50863204	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	43020	50863204	84671543	831	21425											
PRKG1	5592	broad.mit.edu	37	chr10	52913011	52913011	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccaggagattgtggattgTatgtacccggtggagtatgg	15	5	0	1	rs56398862		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:52913011T>C	uc001jjm.2	+	2	548	c.354T>C	c.(352-354)TGT>TGC	p.C118C	PRKG1_uc001jjn.2_Silent_p.C133C|PRKG1_uc001jjo.2_Silent_p.C133C|PRKG1_uc010qhp.1_Silent_p.C118C	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	118	cGMP 1.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TTGTGGATTGTATGTACCCGG	0.458													C	52913011	T	C	52913011	2	2	23	1	0	0	0	0	0	0	0	1	12522	1644	57	3		3	PRKG1	10	52913011	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	2049807	52913011	82621736	832	21426											
PRKG1	5592	broad.mit.edu	37	chr10	54042012	54042012	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagatcatcctgaacaaaGgccatgacatttcagccgac	8	12	2	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:54042012G>T	uc001jjm.2	+	14	1794	c.1600G>T	c.(1600-1602)GGC>TGC	p.G534C	PRKG1_uc001jjo.2_Missense_Mutation_p.G549C|PRKG1_uc009xow.1_Missense_Mutation_p.G252C|uc001jjq.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	534	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CCTGAACAAAGGCCATGACAT	0.423													T	54042012	G	T	54042012	3	4	23	1	0	0	0	0	1	0	0	0	12522	1000	35	5	1969	5	PRKG1	10	54042012	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1129001	54042012	81492735	833	21427											
PCDH15	65217	broad.mit.edu	37	chr10	55582333	55582333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caataggtaacatacaaataGgtgtctctctcctagagagt	8	8	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:55582333G>A	uc001jju.1	-	33	5548	c.5153C>T	c.(5152-5154)CCT>CTT	p.P1718L	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1715L|PCDH15_uc010qhw.1_Missense_Mutation_p.P1678L|PCDH15_uc010qhx.1_Missense_Mutation_p.P1649L|PCDH15_uc010qhy.1_Missense_Mutation_p.P1725L|PCDH15_uc010qhz.1_Missense_Mutation_p.P1720L|PCDH15_uc010qia.1_Missense_Mutation_p.P1698L|PCDH15_uc010qib.1_Missense_Mutation_p.P1695L	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1718	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CATACAAATAGGTGTCTCTCT	0.363										HNSCC(58;0.16)			A	55582333	G	A	55582333	3	1	23	1	0	0	0	0	1	0	0	0	11511	1000	35	4	2324	4	PCDH15	10	55582333	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1540321	55582333	79952414	834	21428											
BICC1	80114	broad.mit.edu	37	chr10	60549123	60549123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcagcatatatcacaaacGtacaatatttcagtatcatt	3	8	4	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:60549123G>A	uc001jki.1	+	7	702	c.702G>A	c.(700-702)ACG>ACA	p.T234T		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	234					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						TATCACAAACGTACAATATTT	0.413													A	60549123	G	A	60549123	2	1	23	1	0	0	0	0	0	0	0	1	1427	1132	40	1		1	BICC1	10	60549123	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	4966790	60549123	74985624	835	21429											
ANK3	288	broad.mit.edu	37	chr10	61847936	61847936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgaattcttttagttaggGcaccctctgggaaagatgct	10	9	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:61847936G>A	uc001jky.2	-	29	3701	c.3509C>T	c.(3508-3510)GCC>GTC	p.A1170V	ANK3_uc001jkw.2_Missense_Mutation_p.A304V|ANK3_uc009xpa.2_Missense_Mutation_p.A304V|ANK3_uc001jkx.2_Missense_Mutation_p.A348V|ANK3_uc010qih.1_Missense_Mutation_p.A1171V|ANK3_uc001jkz.3_Missense_Mutation_p.A1164V|ANK3_uc001jla.1_Missense_Mutation_p.A236V|ANK3_uc001jlb.1_Missense_Mutation_p.A688V	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1170					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TTTAGTTAGGGCACCCTCTGG	0.488													A	61847936	G	A	61847936	3	1	23	1	0	0	0	0	1	0	0	0	622	1203	42	2	9997	2	ANK3	10	61847936	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1298813	61847936	73686811	836	21430											
EGR2	1959	broad.mit.edu	37	chr10	64575649	64575649	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actccgttcatctggtcaaaGgggcctcccagttcggcatt	10	13	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:64575649G>C	uc010qim.1	-	2	295	c.141C>G	c.(139-141)CCC>CCG	p.P47P	EGR2_uc010qin.1_5'UTR|EGR2_uc001jmi.2_Silent_p.P47P|EGR2_uc010qio.1_Silent_p.P60P|EGR2_uc009xph.2_Silent_p.P47P	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	47					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					TCTGGTCAAAGGGGCCTCCCA	0.642													C	64575649	G	C	64575649	2	2	23	1	0	0	0	0	0	0	0	1	4972	987	35	5		5	EGR2	10	64575649	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2727713	64575649	70959098	837	21431											
JMJD1C	221037	broad.mit.edu	37	chr10	64974663	64974663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttagggtctcttctcctgCcttctcattattatggggtt	8	9	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:64974663C>T	uc001jmn.2	-	8	1564	c.1264G>A	c.(1264-1266)GCA>ACA	p.A422T	JMJD1C_uc001jml.2_Missense_Mutation_p.A203T|JMJD1C_uc001jmm.2_Missense_Mutation_p.A134T|JMJD1C_uc010qiq.1_Missense_Mutation_p.A240T|JMJD1C_uc009xpi.2_Missense_Mutation_p.A240T|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_Missense_Mutation_p.A134T	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	422					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCTTCTCCTGCCTTCTCATTA	0.368													T	64974663	C	T	64974663	3	4	23	1	0	0	0	0	1	0	0	0	7950	739	26	2	6434	2	JMJD1C	10	64974663	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	399014	64974663	70560084	838	21432											
PBLD	64081	broad.mit.edu	37	chr10	70051980	70051980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagtgacaaacgtgagcGtgctattcatgttttctggc	11	8	3	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:70051980G>A	uc001jns.1	-	5	502	c.299C>T	c.(298-300)ACG>ATG	p.T100M	PBLD_uc001jnr.1_Missense_Mutation_p.T67M|PBLD_uc001jnt.1_Missense_Mutation_p.T100M|PBLD_uc001jnu.1_Missense_Mutation_p.T100M|PBLD_uc001jnv.1_Missense_Mutation_p.T67M	NM_022129	NP_071412	P30039	PBLD_HUMAN	MAWD binding protein isoform a	100					biosynthetic process		isomerase activity			skin(2)|ovary(1)	3						AAACGTGAGCGTGCTATTCAT	0.463													A	70051980	G	A	70051980	3	1	23	1	0	0	0	0	1	0	0	0	11489	1145	40	1	680	1	PBLD	10	70051980	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	5077317	70051980	65482767	839	21433											
HNRNPH3	3189	broad.mit.edu	37	chr10	70098402	70098402	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggagctgggcgtggaagtAtgtatgacagaatgcgacga	16	5	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:70098402A>G	uc001jnw.3	+	4	623	c.394A>G	c.(394-396)ATG>GTG	p.M132V	HNRNPH3_uc001jnx.3_Intron|HNRNPH3_uc009xpu.2_Missense_Mutation_p.M1V|HNRNPH3_uc010qiv.1_Intron|HNRNPH3_uc001jny.3_Missense_Mutation_p.M83V	NM_012207	NP_036339	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3	132	Gly-rich.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			ovary(2)	2						GCGTGGAAGTATGTATGACAG	0.438													G	70098402	A	G	70098402	3	3	23	1	0	0	0	0	1	0	0	0	7268	449	16	3	404	3	HNRNPH3	10	70098402	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	46422	70098402	65436345	840	21434											
DDX50	79009	broad.mit.edu	37	chr10	70696705	70696705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accataggtctctggcttccGtttcttacgctgctgttgat	9	11	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:70696705G>A	uc001jou.2	+	12	1716	c.1609G>A	c.(1609-1611)GTT>ATT	p.V537I	DDX50_uc010qjc.1_Missense_Mutation_p.V537I	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	nucleolar protein GU2	537						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1						TCTGGCTTCCGTTTCTTACGC	0.388													A	70696705	G	A	70696705	3	1	23	1	0	0	0	0	1	0	0	0	4368	1145	40	1	1655	1	DDX50	10	70696705	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	598303	70696705	64838042	841	21435											
H2AFY2	55506	broad.mit.edu	37	chr10	71851665	71851665	+	Frame_Shift_Del	DEL	G	G	-													aaggccacgtcaggcaagaaGggggggaagaaatccaaggc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:71851664_71851664AG>A	uc001jqm.3	+	3	890	c.431_431AG>A	c.(430-432)aagfs	p.K144fs		NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	Homo sapiens H2A histone family, member Y2 (H2AFY2), mRNA.	144	Lys-rich.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						TCAGGCAAGAAGGGGGGGAAG	0.592													-	71851665	G	-	71851665	7	5	23	1	0	1	0	1	0	0	0	0	6930	991	35	0	442	0	H2AFY2	10	71851665	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	1154960	71851665	63683082	842	21436											
ADAMTS14	140766	broad.mit.edu	37	chr10	72496472	72496472	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaagcagctgtggtgcAgccatcctgacaacccgtac	10	15	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:72496472A>G	uc001jrh.2	+	10	1522	c.1522A>G	c.(1522-1524)AGC>GGC	p.S508G	ADAMTS14_uc001jrg.2_Missense_Mutation_p.S511G|ADAMTS14_uc001jri.1_Missense_Mutation_p.S31G	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	508	Disintegrin.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						GCTGTGGTGCAGCCATCCTGA	0.587													G	72496472	A	G	72496472	3	3	23	1	0	0	0	0	1	0	0	0	259	188	7	3	1569	3	ADAMTS14	10	72496472	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	644807	72496472	63038275	843	21437											
KIAA0913	23053	broad.mit.edu	37	chr10	75557154	75557154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatggccagcattgacagCagtgcccctgaaacaacatc	10	13	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:75557154C>T	uc009xrl.2	+	18	3470	c.3438C>T	c.(3436-3438)AGC>AGT	p.S1146S	KIAA0913_uc001jve.2_Silent_p.S1151S|KIAA0913_uc001jvf.2_Silent_p.S1146S|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Silent_p.S581S|KIAA0913_uc010qkr.1_Silent_p.S569S|KIAA0913_uc001jvj.2_Silent_p.S569S|KIAA0913_uc009xrn.1_5'Flank	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	1146	Ser-rich.						zinc ion binding			breast(1)	1	Prostate(51;0.0112)					GCATTGACAGCAGTGCCCCTG	0.567													T	75557154	C	T	75557154	2	4	23	1	0	0	0	0	0	0	0	1	8200	709	25	2		2	KIAA0913	10	75557154	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3060682	75557154	59977593	844	21438											
ADK	132	broad.mit.edu	37	chr10	76153932	76153932	+	Frame_Shift_Del	DEL	T	T	-													agccacacaaagcagcaacaTtttttggatgcattgggata							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:76153931_76153931AT>A	uc001jwi.3	+	4	400	c.306_306AT>A	c.(304-306)acafs	p.T102fs	ADK_uc010qlb.2_Frame_Shift_Del_p.T102fs|ADK_uc001jwj.3_Frame_Shift_Del_p.T85fs|ADK_uc010qlc.2_Frame_Shift_Del_p.T67fs	NM_006721	NP_006712	P55263	ADK_HUMAN	Homo sapiens adenosine kinase (ADK), transcript variant 2, mRNA.	102					purine base metabolic process|purine ribonucleoside salvage	cytosol	ATP binding|adenosine kinase activity|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	AAGCAGCAACATTTTTTGGAT	0.393													-	76153932	T	-	76153932	7	5	23	1	0	1	0	1	0	0	0	0	320	1493	52	0	343	0	ADK	10	76153932	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	596778	76153932	59380815	845	21439											
MYST4	23522	broad.mit.edu	37	chr10	76790548	76790548	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacatgaacatgaacactcTcaacgccatgaatgggtaca	8	10	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:76790548T>C	uc001jwn.1	+	18	6459	c.5966T>C	c.(5965-5967)CTC>CCC	p.L1989P	MYST4_uc001jwo.1_Missense_Mutation_p.L1697P|MYST4_uc001jwp.1_Missense_Mutation_p.L1806P	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1989	Interaction with RUNX1 and RUNX2.|Met-rich.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					ATGAACACTCTCAACGCCATG	0.483			T	CREBBP	AML								C	76790548	T	C	76790548	3	2	23	1	0	0	0	0	1	0	0	0	10105	1551	54	3	6028	3	MYST4	10	76790548	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	636616	76790548	58744199	846	21440											
KCNMA1	3778	broad.mit.edu	37	chr10	78771771	78771771	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttgggatctgtgatgtcAtcatgacaggccttgcagta	11	8	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:78771771A>G	uc001jxn.2	-	18	2223	c.2046T>C	c.(2044-2046)GAT>GAC	p.D682D	KCNMA1_uc001jxj.2_Silent_p.D686D|KCNMA1_uc001jxk.1_Silent_p.D297D|KCNMA1_uc009xrt.1_Silent_p.D502D|KCNMA1_uc001jxl.1_Silent_p.D336D|KCNMA1_uc001jxo.2_Silent_p.D682D|KCNMA1_uc001jxm.2_Silent_p.D682D|KCNMA1_uc001jxq.2_Silent_p.D682D	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	682	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CTGTGATGTCATCATGACAGG	0.418													G	78771771	A	G	78771771	2	3	23	1	0	0	0	0	0	0	0	1	8073	214	8	3		3	KCNMA1	10	78771771	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	1981223	78771771	56762976	847	21441											
DLG5	9231	broad.mit.edu	37	chr10	79581412	79581412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttgggccaggtcccgcCgctgttggagccttcagagt	15	13	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:79581412C>T	uc001jzk.2	-	15	2900	c.2830G>A	c.(2830-2832)GGC>AGC	p.G944S	DLG5_uc001jzi.2_5'Flank|DLG5_uc001jzj.2_Intron|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.G548S	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	944					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CAGGTCCCGCCGCTGTTGGAG	0.607													T	79581412	C	T	79581412	3	4	23	1	0	0	0	0	1	0	0	0	4558	652	23	1	3001	1	DLG5	10	79581412	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	809641	79581412	55953335	848	21442											
LDB3	11155	broad.mit.edu	37	chr10	88441340	88441340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgccttctcctcactcgccGaggcctctgaccctggccct	8	21	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:88441340G>A	uc001kdv.2	+	4	492	c.469G>A	c.(469-471)GAG>AAG	p.E157K	LDB3_uc010qml.1_Missense_Mutation_p.E157K|LDB3_uc010qmm.1_Missense_Mutation_p.E157K|LDB3_uc001kdu.2_Intron|LDB3_uc009xsz.2_Intron|LDB3_uc001kdr.2_Intron|LDB3_uc009xsy.2_Missense_Mutation_p.E157K|LDB3_uc001kds.2_Missense_Mutation_p.E157K|LDB3_uc001kdt.2_RNA	NM_007078	NP_009009	O75112	LDB3_HUMAN	LIM domain binding 3 isoform 1	157						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			ovary(1)	1						CTCACTCGCCGAGGCCTCTGA	0.736													A	88441340	G	A	88441340	3	1	23	1	0	0	0	0	1	0	0	0	8697	1059	37	1	483	1	LDB3	10	88441340	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	8859928	88441340	47093407	849	21443											
GLUD1	2746	broad.mit.edu	37	chr10	88822563	88822563	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccccttggctgatgggtttAccagtaacacaggcgtgtgc	12	12	0	1	rs144831842		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:88822563A>G	uc001keh.2	-	6	868	c.771T>C	c.(769-771)GGT>GGC	p.G257G	GLUD1_uc001keg.2_Silent_p.G90G|GLUD1_uc010qmp.1_Silent_p.G124G	NM_005271	NP_005262	P00367	DHE3_HUMAN	glutamate dehydrogenase 1 precursor	257					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding				0					L-Glutamic Acid(DB00142)|NADH(DB00157)	TGATGGGTTTACCAGTAACAC	0.418													G	88822563	A	G	88822563	2	3	23	1	0	0	0	0	0	0	0	1	6476	378	14	3		3	GLUD1	10	88822563	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	381223	88822563	46712184	850	21444											
STAMBPL1	57559	broad.mit.edu	37	chr10	90682146	90682147	+	Frame_Shift_Ins	INS	-	-	A													gcttgaggtttctgcttgtaINSaaaaaaagggctttcatcca							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:90682145_90682146T>TA	uc001kfk.3	+	9	1629_1630	c.1206_1207T>TA	c.(1204-1209)tgtaaafs	p.C402fs	STAMBPL1_uc010qmx.1_Frame_Shift_Ins_p.C402fs|STAMBPL1_uc009xto.3_Non-coding_Transcript|STAMBPL1_uc001kfl.3_Frame_Shift_Ins_p.C402fs|STAMBPL1_uc001kfn.3_Frame_Shift_Ins_p.C236fs	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA.	402							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TTTCTGCTTGTAAAAAAAAGGG	0.426													A	90682147	-	A	90682146	7	5	23	1	0	1	1	0	0	0	0	0	15250	363	13	0	1241	0	STAMBPL1	10	90682146	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	1859583	90682146	44852601	851	21445											
CH25H	9023	broad.mit.edu	37	chr10	90967020	90967020	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcccggagctgcaaaggacCtgggggtcggagcagttgtg	18	9	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:90967020C>A	uc001kfz.2	-	1	52	c.30G>T	c.(28-30)CAG>CAT	p.Q10H		NM_003956	NP_003947	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	10					bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding				0		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		TGCAAAGGACCTGGGGGTCGG	0.637													A	90967020	C	A	90967020	3	1	23	1	0	0	0	0	1	0	0	0	3307	680	24	5	792	5	CH25H	10	90967020	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	284874	90967020	44567727	852	21446											
PLCE1	51196	broad.mit.edu	37	chr10	96014707	96014707	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttccagaagagcccactcttTgaccacagctgggtccccca	8	16	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:96014707T>A	uc001kjk.2	+	11	4089	c.3455T>A	c.(3454-3456)TTG>TAG	p.L1152*	PLCE1_uc010qnx.1_Nonsense_Mutation_p.L1152*|PLCE1_uc001kjm.2_Nonsense_Mutation_p.L844*	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1152					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				GCCCACTCTTTGACCACAGCT	0.542													A	96014707	T	A	96014707	4	1	23	1	0	0	0	0	0	1	0	0	12034	1821	63	5	3779	5	PLCE1	10	96014707	Nonsense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	5047687	96014707	39520040	853	21447											
TCTN3	26123	broad.mit.edu	37	chr10	97446824	97446824	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taagactgtgaagttatagtAagaggcagcattgagggctg	14	4	0	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:97446824A>G	uc001klb.3	-	6	1073	c.829T>C	c.(829-831)TAC>CAC	p.Y277H	TCTN3_uc001kla.3_Missense_Mutation_p.Y126H|TCTN3_uc010qoi.1_Missense_Mutation_p.Y198H|TCTN3_uc001kld.2_Missense_Mutation_p.Y295H|TCTN3_uc009xux.1_Missense_Mutation_p.Y126H|TCTN3_uc009xuy.1_RNA	NM_015631	NP_056446	Q6NUS6	TECT3_HUMAN	tectonic 3 isoform a precursor	277	Extracellular (Potential).				apoptosis	integral to membrane					0		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		AAGTTATAGTAAGAGGCAGCA	0.423													G	97446824	A	G	97446824	3	3	23	1	0	0	0	0	1	0	0	0	15721	362	13	3	1030	3	TCTN3	10	97446824	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	1432117	97446824	38087923	854	21448											
RRP12	23223	broad.mit.edu	37	chr10	99126211	99126211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctgtgcttacccaggactCgttgggccaccttgggatcc	11	15	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:99126211C>T	uc001knf.2	-	28	3522	c.3383G>A	c.(3382-3384)CGA>CAA	p.R1128Q	RRP12_uc001kne.2_Missense_Mutation_p.R143Q|RRP12_uc009xvl.2_Missense_Mutation_p.R245Q|RRP12_uc009xvm.2_Missense_Mutation_p.R846Q|RRP12_uc010qou.1_Missense_Mutation_p.R1067Q|RRP12_uc009xvn.2_Missense_Mutation_p.R1028Q	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	1128						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		ACCCAGGACTCGTTGGGCCAC	0.627													T	99126211	C	T	99126211	3	4	23	1	0	0	0	0	1	0	0	0	13686	884	31	1	538	1	RRP12	10	99126211	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1679387	99126211	36408536	855	21449											
CRTAC1	55118	broad.mit.edu	37	chr10	99677257	99677257	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccatgtcactctgcatacCtgtatatttgctgaccccag	6	14	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:99677257C>A	uc001kou.1	-	5	1071	c.715G>T	c.(715-717)GGG>TGG	p.G239W	CRTAC1_uc001kov.2_Missense_Mutation_p.G228W|CRTAC1_uc001kot.1_Missense_Mutation_p.G29W	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	239						proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CTCTGCATACCTGTATATTTG	0.577													A	99677257	C	A	99677257	3	1	23	1	0	0	0	0	1	0	0	0	3896	695	24	5	1314	5	CRTAC1	10	99677257	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	551046	99677257	35857490	856	21450											
NKX2-3	159296	broad.mit.edu	37	chr10	101294790	101294790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggccggagactgcaaggCggcggaggagagcgagaggc	21	9	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:101294790C>T	uc009xwj.2	+	2	606	c.407C>T	c.(406-408)GCG>GTG	p.A136V		NM_145285	NP_660328	Q8TAU0	NKX23_HUMAN	NK2 transcription factor related, locus 3	136						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.45e-08)		GACTGCAAGGCGGCGGAGGAG	0.642													T	101294790	C	T	101294790	3	4	23	1	0	0	0	0	1	0	0	0	10451	768	27	1	413	1	NKX2-3	10	101294790	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1617533	101294790	34239957	857	21451											
COX15	1355	broad.mit.edu	37	chr10	101486818	101486818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtaggcagcaggcaggatGtacacaaggcctacaaggcg	14	9	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:101486818G>A	uc001kqb.3	-	4	1106	c.489C>T	c.(487-489)TAC>TAT	p.Y163Y	COX15_uc001kqc.3_Silent_p.Y163Y|COX15_uc010qpj.1_5'UTR	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	COX15 homolog isoform 1	163	Helical; (Potential).				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		CAGGCAGGATGTACACAAGGC	0.517													A	101486818	G	A	101486818	2	1	23	1	0	0	0	0	0	0	0	1	3764	1372	48	4		4	COX15	10	101486818	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	192028	101486818	34047929	858	21452											
CUTC	51076	broad.mit.edu	37	chr10	101514331	101514332	+	Missense_Mutation	DNP	CA	CA	TG													acaaaggatccttgagggttCaggtgctacagaattccact							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:101514331_101514332CA>TG	uc001kqd.3	+	8	795_796	c.647_648CA>TG	c.(646-648)TCA>TTG	p.S216L	CUTC_uc001kqe.3_RNA	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN	cutC copper transporter homolog	216					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		CTTGAGGGTTCAGGTGCTACAG	0.356													TG	101514332	CA	TG	101514331	3	4	23	1	0	0	0	0	1	0	0	0	4063	838	29	4	677	4	CUTC	10	101514331	Missense_Mutation	DNP	CA	TCGA-BR-4368-01A-01D-1158-08	27513	101514331	34020416	859	21453											
ABCC2	1244	broad.mit.edu	37	chr10	101590172	101590172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagagagaacagctttcGtcgaacacttagccgcaggt	12	9	0	3	rs149359610		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:101590172G>A	uc001kqf.2	+	20	2868	c.2729G>A	c.(2728-2730)CGT>CAT	p.R910H		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	910	Cytoplasmic (By similarity).					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AACAGCTTTCGTCGAACACTT	0.478													A	101590172	G	A	101590172	3	1	23	1	0	0	0	0	1	0	0	0	53	1145	40	1	2807	1	ABCC2	10	101590172	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	75841	101590172	33944575	860	21454											
ABCC2	1244	broad.mit.edu	37	chr10	101590491	101590491	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttctaggtccaatggcagGcatctgaagtccctgagaaa	11	9	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:101590491G>A	uc001kqf.2	+	21	2905	c.2766G>A	c.(2764-2766)AGG>AGA	p.R922R		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	922	Cytoplasmic (By similarity).					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCAATGGCAGGCATCTGAAGT	0.468													A	101590491	G	A	101590491	2	1	23	1	0	0	0	0	0	0	0	1	53	1194	42	2		2	ABCC2	10	101590491	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	319	101590491	33944256	861	21455											
CPN1	1369	broad.mit.edu	37	chr10	101835823	101835823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagctcgcggcccaacgcttCgttgccgtgcatgttcccca	10	17	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:101835823C>T	uc001kql.2	-	2	525	c.265G>A	c.(265-267)GAA>AAA	p.E89K		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	89	Catalytic.	Zinc; catalytic.			proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCCAACGCTTCGTTGCCGTGC	0.562													T	101835823	C	T	101835823	3	4	23	1	0	0	0	0	1	0	0	0	3809	893	31	1	1143	1	CPN1	10	101835823	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	245332	101835823	33698924	862	21456											
CWF19L1	55280	broad.mit.edu	37	chr10	101997844	101997844	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acaccatttccctcgactctTaaagaaccgtctcagagtgg	7	13	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:101997844T>A	uc001kqq.1	-	11	1276	c.1189A>T	c.(1189-1191)AAG>TAG	p.K397*	CWF19L1_uc001kqs.1_Nonsense_Mutation_p.K149*|CWF19L1_uc001kqr.1_Nonsense_Mutation_p.K397*|CWF19L1_uc001kqt.1_Nonsense_Mutation_p.K101*|CWF19L1_uc010qpn.1_Nonsense_Mutation_p.K260*|SNORA12_uc001kqu.1_5'Flank	NM_018294	NP_060764	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control	397							catalytic activity				0		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		CCTCGACTCTTAAAGAACCGT	0.483													A	101997844	T	A	101997844	4	1	23	1	0	0	0	0	0	1	0	0	4071	1763	61	5	443	5	CWF19L1	10	101997844	Nonsense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	162021	101997844	33536903	863	21457											
C10orf76	79591	broad.mit.edu	37	chr10	103799868	103799868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacgtttctctacctgtgCcatggttagagaatctgtga	9	10	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:103799868C>T	uc009xwy.1	-	2	106	c.4G>A	c.(4-6)GCA>ACA	p.A2T	C10orf76_uc001kui.2_Missense_Mutation_p.A2T	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	hypothetical protein LOC79591	2						integral to membrane					0		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TCTACCTGTGCCATGGTTAGA	0.294													T	103799868	C	T	103799868	3	4	23	1	0	0	0	0	1	0	0	0	1616	739	26	2	2165	2	C10orf76	10	103799868	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1802024	103799868	31734879	864	21458											
AS3MT	57412	broad.mit.edu	37	chr10	104632870	104632870	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaggtggaagtggctgaaaAgtatcttgactatcacatgg	12	5	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:104632870A>C	uc001kwk.2	+	5	478	c.338A>C	c.(337-339)AAG>ACG	p.K113T	AS3MT_uc001kwj.2_Missense_Mutation_p.K115T|AS3MT_uc009xxh.2_Missense_Mutation_p.K113T	NM_020682	NP_065733	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	113					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		GTGGCTGAAAAGTATCTTGAC	0.323													C	104632870	A	C	104632870	3	2	23	1	0	0	0	0	1	0	0	0	1005	72	3	5	356	5	AS3MT	10	104632870	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	833002	104632870	30901877	865	21459											
INA	9118	broad.mit.edu	37	chr10	105037797	105037797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagtatgagtccctggccGctaagaacctgcagtccgcg	11	15	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:105037797G>A	uc001kws.2	+	1	878	c.829G>A	c.(829-831)GCT>ACT	p.A277T	uc001kwr.2_5'Flank|INA_uc009xxj.2_Missense_Mutation_p.A277T	NM_032727	NP_116116	Q16352	AINX_HUMAN	internexin neuronal intermediate filament	277	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			ovary(1)|breast(1)	2				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GTCCCTGGCCGCTAAGAACCT	0.657													A	105037797	G	A	105037797	3	1	23	1	0	0	0	0	1	0	0	0	7730	1087	38	1	831	1	INA	10	105037797	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	404927	105037797	30496950	866	21460											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105361647	105361647	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatccaggatctggcagtAccaccagccattagggttcc	9	14	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:105361647A>G	uc001kxj.1	-	14	3384	c.3244T>C	c.(3244-3246)TAC>CAC	p.Y1082H	SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.Y917H|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.Y959H|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.Y917H|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.Y1025H	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	1110	SH3 5.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ATCTGGCAGTACCACCAGCCA	0.567													G	105361647	A	G	105361647	3	3	23	1	0	0	0	0	1	0	0	0	14256	391	14	3	77	3	SH3PXD2A	10	105361647	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	323850	105361647	30173100	867	21461											
SORCS1	114815	broad.mit.edu	37	chr10	108489875	108489875	+	Splice_Site	DEL	A	A	-													tttgaccccatcacagacctAaaaaatggagaaacatgaaa							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:108489874_108489874TA>T	uc001kyl.3	-	6	1142	c.960_splice	c.e6-1	p.W320_splice	SORCS1_uc021pxw.1_Splice_Site_p.W320_splice|SORCS1_uc009xxs.3_Splice_Site_p.W320_splice|SORCS1_uc001kym.3_Splice_Site_p.W320_splice|SORCS1_uc001kyn.2_Splice_Site_p.W320_splice|SORCS1_uc001kyo.3_Splice_Site_p.W320_splice	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	320						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATCACAGACCTAAAAAATGGA	0.423													-	108489875	A	-	108489875	8	5	23	1	0	1	0	1	0	0	1	0	14930	377	13	0		0	SORCS1	10	108489875	Splice_Site	DEL	A	TCGA-BR-4368-01A-01D-1158-08	3128228	108489875	27044872	868	21462											
SORCS1	114815	broad.mit.edu	37	chr10	108923733	108923733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccattctactcacgctgctGttgtggccagaccagtggac	10	14	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:108923733G>A	uc001kym.2	-	1	560	c.552C>T	c.(550-552)AAC>AAT	p.N184N	SORCS1_uc001kyl.2_Silent_p.N184N|SORCS1_uc009xxs.2_Silent_p.N184N|SORCS1_uc001kyn.1_Silent_p.N184N|SORCS1_uc001kyo.2_Silent_p.N184N	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	184	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCACGCTGCTGTTGTGGCCAG	0.557													A	108923733	G	A	108923733	2	1	23	1	0	0	0	0	0	0	0	1	14930	1368	48	4		4	SORCS1	10	108923733	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	433858	108923733	26611014	869	21463											
HABP2	3026	broad.mit.edu	37	chr10	115343921	115343921	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acctagcattgctcaagttaAagccagtggatggtcactgt	10	9	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:115343921A>C	uc001lai.3	+	11	1355	c.1252A>C	c.(1252-1254)AAG>CAG	p.K418Q	HABP2_uc010qrz.1_RNA	NM_004132	NP_004123	Q14520	HABP2_HUMAN	hyaluronan binding protein 2 preproprotein	418	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		GCTCAAGTTAAAGCCAGTGGA	0.507													C	115343921	A	C	115343921	3	2	23	1	0	0	0	0	1	0	0	0	6938	15	1	5	1294	5	HABP2	10	115343921	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	6420188	115343921	20190826	870	21464											
NRAP	4892	broad.mit.edu	37	chr10	115377303	115377303	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaagcatctggatgctgacGgtacttcttctgttgagcag	11	9	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:115377303G>T	uc001laj.2	-	26	3048	c.2884C>A	c.(2884-2886)CGT>AGT	p.R962S	NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.R927S|NRAP_uc001lal.3_Missense_Mutation_p.R962S	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	962	Nebulin 24.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGATGCTGACGGTACTTCTTC	0.403													T	115377303	G	T	115377303	3	4	23	1	0	0	0	0	1	0	0	0	10638	1116	39	5	2376	5	NRAP	10	115377303	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	33382	115377303	20157444	871	21465											
NRAP	4892	broad.mit.edu	37	chr10	115383322	115383322	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcttggctttggctgccAggaaggtcaaggaatcaaga	12	10	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:115383322A>G	uc001laj.2	-	23	2587	c.2423T>C	c.(2422-2424)CTG>CCG	p.L808P	NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.L773P|NRAP_uc001lal.3_Missense_Mutation_p.L808P	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	808	Nebulin 20.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		tttggctgccaggaaggtcaa	0.398													G	115383322	A	G	115383322	3	3	23	1	0	0	0	0	1	0	0	0	10638	188	7	3	2849	3	NRAP	10	115383322	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	6019	115383322	20151425	872	21466											
VWA2	340706	broad.mit.edu	37	chr10	116037686	116037686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacaggtgggaggagctgCatgcactggccagcgagcct	17	11	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:116037686C>T	uc001lbl.1	+	7	901	c.580C>T	c.(580-582)CAT>TAT	p.H194Y	VWA2_uc001lbk.1_Missense_Mutation_p.H194Y|VWA2_uc009xyf.1_5'UTR	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	194	VWFA 1.					extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)		GGAGGAGCTGCATGCACTGGC	0.617													T	116037686	C	T	116037686	3	4	23	1	0	0	0	0	1	0	0	0	17236	710	25	2	602	2	VWA2	10	116037686	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	654364	116037686	19497061	873	21467											
PNLIPRP1	5407	broad.mit.edu	37	chr10	118360629	118360629	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaggatgcccacagatgggtCactatgctgataaatttgct	10	8	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:118360629C>T	uc001lco.1	+	10	997	c.979C>T	c.(979-981)CAC>TAC	p.H327Y	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.H327Y	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	327					lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)		ACAGATGGGTCACTATGCTGA	0.443													T	118360629	C	T	118360629	3	4	23	1	0	0	0	0	1	0	0	0	12150	826	29	4	1013	4	PNLIPRP1	10	118360629	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2322943	118360629	17174118	874	21468											
C10orf46	143384	broad.mit.edu	37	chr10	120514110	120514110	+	Frame_Shift_Del	DEL	C	C	-													gcgggcaccgccagcagctgCccccccggaggctctcgggc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:120514110delC	uc001lds.1	-	1	649	c.165delG	c.(163-165)GGGfs	p.G55fs	C10orf46_uc010qst.1_RNA	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN	chromosome 10 open reading frame 46	55	Pro-rich.				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding				0		Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0131)		CCAGCAGCTGCCCCCCCGGAG	0.736													-	120514110	C	-	120514110	7	5	23	1	0	1	0	1	0	0	0	0	1604	726	26	0	980	0	C10orf46	10	120514110	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	2153481	120514110	15020637	875	21469											
SEC23IP	11196	broad.mit.edu	37	chr10	121658058	121658058	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagtgatccttttgggAatattggacagtcaccatta	10	8	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:121658058A>G	uc001leu.1	+	2	355	c.283A>G	c.(283-285)AAT>GAT	p.N95D	SEC23IP_uc010qtc.1_Intron	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	95	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TCCTTTTGGGAATATTGGACA	0.473													G	121658058	A	G	121658058	3	3	23	1	0	0	0	0	1	0	0	0	13993	246	9	3	289	3	SEC23IP	10	121658058	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	1143948	121658058	13876689	876	21470											
PLEKHA1	59338	broad.mit.edu	37	chr10	124186520	124186520	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggcgccattgtagcacaGcggggtcccggcagatctgc	14	13	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:124186520G>A	uc001lge.1	+	11	996	c.873G>A	c.(871-873)CAG>CAA	p.Q291Q	PLEKHA1_uc001lgf.1_Silent_p.Q291Q|PLEKHA1_uc001lgg.1_Silent_p.Q291Q|PLEKHA1_uc001lgh.2_Silent_p.Q291Q	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A	291					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			kidney(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGTAGCACAGCGGGGTCCCG	0.488													A	124186520	G	A	124186520	2	1	23	1	0	0	0	0	0	0	0	1	12055	962	34	2		2	PLEKHA1	10	124186520	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2528462	124186520	11348227	877	21471											
PLEKHA1	59338	broad.mit.edu	37	chr10	124189240	124189240	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctcgcagcaactctttggTctcaacctttaccatggaga	7	13	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:124189240T>C	uc001lge.1	+	12	1124	c.1001T>C	c.(1000-1002)GTC>GCC	p.V334A	PLEKHA1_uc001lgf.1_3'UTR|PLEKHA1_uc001lgg.1_Missense_Mutation_p.V334A	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A	334					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			kidney(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AACTCTTTGGTCTCAACCTTT	0.542													C	124189240	T	C	124189240	3	2	23	1	0	0	0	0	1	0	0	0	12055	1667	58	3	1043	3	PLEKHA1	10	124189240	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	2720	124189240	11345507	878	21472											
HTRA1	5654	broad.mit.edu	37	chr10	124249045	124249045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggtgaccaacaagcaccGggtcaaagttgagctgaaga	13	9	1	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:124249045G>A	uc001lgj.2	+	3	808	c.680G>A	c.(679-681)CGG>CAG	p.R227Q		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1 precursor	227	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AACAAGCACCGGGTCAAAGTT	0.493													A	124249045	G	A	124249045	3	1	23	1	0	0	0	0	1	0	0	0	7453	1116	39	1	690	1	HTRA1	10	124249045	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	59805	124249045	11285702	879	21473											
CUZD1	50624	broad.mit.edu	37	chr10	124596473	124596473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgaaggtgggagtcacacGgccacagacttgtccaatca	11	11	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:124596473G>A	uc001lgq.2	-	5	1023	c.691C>T	c.(691-693)CGT>TGT	p.R231C	CUZD1_uc001lgp.2_5'UTR|CUZD1_uc009yad.2_5'UTR|CUZD1_uc009yaf.2_Intron|CUZD1_uc001lgr.2_5'UTR|CUZD1_uc010qty.1_Intron|CUZD1_uc009yae.2_Intron|CUZD1_uc001lgs.2_Missense_Mutation_p.R231C|CUZD1_uc010qtz.1_Missense_Mutation_p.R231C	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1 precursor	231	Extracellular (Potential).|CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				ovary(1)|skin(1)	2		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		GGAGTCACACGGCCACAGACT	0.463													A	124596473	G	A	124596473	3	1	23	1	0	0	0	0	1	0	0	0	4066	1116	39	1	1152	1	CUZD1	10	124596473	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	347428	124596473	10938274	880	21474											
ZRANB1	54764	broad.mit.edu	37	chr10	126631072	126631072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagtgcacaatgtcagaaCgtggaattaagtgggcttgt	13	5	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:126631072C>T	uc001lic.2	+	1	381	c.10C>T	c.(10-12)CGT>TGT	p.R4C	ZRANB1_uc010qug.1_Missense_Mutation_p.R30C	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	4	RanBP2-type 1.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AATGTCAGAACGTGGAATTAA	0.388													T	126631072	C	T	126631072	3	4	23	1	0	0	0	0	1	0	0	0	18219	536	19	1	12	1	ZRANB1	10	126631072	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2034599	126631072	8903675	881	21475											
FANK1	92565	broad.mit.edu	37	chr10	127697821	127697821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcctagaaatggccagaGtttttgacagacaggttggg	14	6	0	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:127697821G>A	uc001ljh.3	+	10	1062	c.958G>A	c.(958-960)GTT>ATT	p.V320I	FANK1_uc009yan.2_Missense_Mutation_p.V346I|FANK1_uc001lji.2_Missense_Mutation_p.V314I	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains	320						cytoplasm|nucleus				ovary(1)	1		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				AATGGCCAGAGTTTTTGACAG	0.408													A	127697821	G	A	127697821	3	1	23	1	0	0	0	0	1	0	0	0	5672	1029	36	4	996	4	FANK1	10	127697821	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1066749	127697821	7836926	882	21476											
ADAM12	8038	broad.mit.edu	37	chr10	127726832	127726832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtgggtaggaatctggcGgcttcctcatcaggcctttt	13	10	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:127726832G>A	uc001ljk.2	-	20	2749	c.2336C>T	c.(2335-2337)CCG>CTG	p.P779L	ADAM12_uc010qul.1_Missense_Mutation_p.P730L	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	779	Cytoplasmic (Potential).				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GGAATCTGGCGGCTTCCTCAT	0.557													A	127726832	G	A	127726832	3	1	23	1	0	0	0	0	1	0	0	0	236	1116	39	1	409	1	ADAM12	10	127726832	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	29011	127726832	7807915	883	21477											
MKI67	4288	broad.mit.edu	37	chr10	129903029	129903029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaggtttctcttgggccGttgctttgtgcttgctgggg	15	9	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:129903029G>A	uc001lke.2	-	13	7270	c.7075C>T	c.(7075-7077)CGG>TGG	p.R2359W	MKI67_uc001lkf.2_Missense_Mutation_p.R1999W|MKI67_uc009yav.1_Missense_Mutation_p.R1934W|MKI67_uc009yaw.1_Missense_Mutation_p.R1509W	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2359	16 X 122 AA approximate repeats.|12.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCTTGGGCCGTTGCTTTGTG	0.502													A	129903029	G	A	129903029	3	1	23	1	0	0	0	0	1	0	0	0	9598	1144	40	1	2707	1	MKI67	10	129903029	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2176197	129903029	5631718	884	21478											
STK32C	282974	broad.mit.edu	37	chr10	134041580	134041580	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgatgcactgctgcttgttcAtgtacttcatggcgtacatc	9	11	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:134041580A>G	uc001lle.1	-	3	511	c.371T>C	c.(370-372)ATG>ACG	p.M124T	STK32C_uc001lld.1_Missense_Mutation_p.M7T|STK32C_uc010quu.1_Missense_Mutation_p.M137T|STK32C_uc009ybc.1_Missense_Mutation_p.M7T|STK32C_uc009ybd.1_Missense_Mutation_p.M7T|STK32C_uc001llb.2_5'UTR|STK32C_uc001llc.1_RNA	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	124	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|breast(1)	5		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CTGCTTGTTCATGTACTTCAT	0.607													G	134041580	A	G	134041580	3	3	23	1	0	0	0	0	1	0	0	0	15298	217	8	3	1129	3	STK32C	10	134041580	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	4138551	134041580	1493167	885	21479											
B4GALNT4	338707	broad.mit.edu	37	chr11	375700	375700	+	Frame_Shift_Del	DEL	G	G	-													cagtctccagccagccacgtGggggggcgtccgccgcagga							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:375699_375699TG>T	uc001lpb.3	+	9	920	c.911_911TG>T	c.(910-912)gtgfs	p.V304fs		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	304						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCAGCCACGTGGGGGGGCGT	0.672													-	375700	G	-	375700	7	5	23	1	0	1	0	1	0	0	0	0	1269	1335	47	0	950	0	B4GALNT4	11	375700	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08		375700	134630816	886	21480											
ANO9	338440	broad.mit.edu	37	chr11	432030	432030	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcttgttgttcatgacaacGaagttcacgattcggattct	9	8	4	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:432030G>A	uc001lpi.2	-	5	460	c.375C>T	c.(373-375)TTC>TTT	p.F125F	ANO9_uc001lph.2_5'Flank|ANO9_uc010qvv.1_5'UTR	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	125	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						TCATGACAACGAAGTTCACGA	0.622													A	432030	G	A	432030	2	1	23	1	0	0	0	0	0	0	0	1	704	1049	37	1		1	ANO9	11	432030	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	56330	432030	134574486	887	21481											
PTDSS2	81490	broad.mit.edu	37	chr11	489433	489433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatcgccttccagttcacGccgtacagctgggttcgctt	11	13	1	0	rs75188178	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:489433G>A	uc001lpj.2	+	9	1064	c.888G>A	c.(886-888)ACG>ACA	p.T296T		NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	296	Cytoplasmic (Potential).					integral to membrane					0		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	TCCAGTTCACGCCGTACAGCT	0.667													A	489433	G	A	489433	2	1	23	1	0	0	0	0	0	0	0	1	12737	1074	38	1		1	PTDSS2	11	489433	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	57403	489433	134517083	888	21482											
EPS8L2	64787	broad.mit.edu	37	chr11	724757	724757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccagccatggccaagtaCgtcaagatcctgtatgactt	8	12	1	2	rs139122869	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:724757C>T	uc001lqt.2	+	16	1735	c.1488C>T	c.(1486-1488)TAC>TAT	p.Y496Y	EPS8L2_uc001lqu.2_Silent_p.Y496Y|EPS8L2_uc010qwk.1_Silent_p.Y512Y|EPS8L2_uc001lqv.2_Silent_p.Y451Y|EPS8L2_uc001lqw.2_Silent_p.Y108Y|EPS8L2_uc001lqx.2_Silent_p.Y108Y|EPS8L2_uc001lqy.2_Silent_p.Y4Y	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	epidermal growth factor receptor pathway	496	SH3.					cytoplasm				pancreas(1)	1		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGCCAAGTACGTCAAGATCC	0.602													T	724757	C	T	724757	2	4	23	1	0	0	0	0	0	0	0	1	5196	547	19	1		1	EPS8L2	11	724757	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	235324	724757	134281759	889	21483											
SLC25A22	79751	broad.mit.edu	37	chr11	792014	792014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggcgcgatgaccagcgcGcggcagtaggcgcccttcag	17	13	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:792014G>A	uc001lri.2	-	10	1215	c.873C>T	c.(871-873)CGC>CGT	p.R291R	CEND1_uc001lrh.1_5'Flank|SLC25A22_uc009yci.2_Silent_p.R291R|SLC25A22_uc001lrj.2_Silent_p.R291R	NM_024698	NP_078974	Q9H936	GHC1_HUMAN	mitochondrial glutamate carrier 1	291	Solcar 3.					integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity				0		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	TGACCAGCGCGCGGCAGTAGG	0.687													A	792014	G	A	792014	2	1	23	1	0	0	0	0	0	0	0	1	14485	1074	38	1		1	SLC25A22	11	792014	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	67257	792014	134214502	890	21484											
MUC5B	727897	broad.mit.edu	37	chr11	1268464	1268464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagtgccgaacaccacgGccaccacacacgggcggtcc	10	20	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:1268464G>A	uc009ycr.1	+	50	12064	c.11938G>A	c.(11938-11940)GCC>ACC	p.A3980T	MUC5B_uc001ltb.2_Missense_Mutation_p.A3455T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	3452	7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GAACACCACGGCCACCACACA	0.542													A	1268464	G	A	1268464	3	1	23	1	0	0	0	0	1	0	0	0	9979	1203	42	2	10485	2	MUC5B	11	1268464	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	476450	1268464	133738052	891	21485											
MOB2	81532	broad.mit.edu	37	chr11	1491525	1491525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggtcgtccatgatggcGgtctctttggggtccagcag	16	9	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:1491525G>A	uc010qwz.1	-	5	874	c.684C>T	c.(682-684)ACC>ACT	p.T228T	MOB2_uc001lto.1_Silent_p.T112T|MOB2_uc001ltp.1_5'UTR|MOB2_uc001ltq.1_Silent_p.T191T|MOB2_uc010qwy.1_Silent_p.T112T	NM_053005	NP_443731	Q70IA6	MOB2_HUMAN	HCCA2 protein	197						nucleus|perinuclear region of cytoplasm	metal ion binding				0						CCATGATGGCGGTCTCTTTGG	0.667													A	1491525	G	A	1491525	2	1	23	1	0	0	0	0	0	0	0	1	9681	1103	39	1		1	MOB2	11	1491525	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	223061	1491525	133514991	892	21486											
MOB2	81532	broad.mit.edu	37	chr11	1501680	1501680	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaactcggagatggtgCtatactgcaggttgatgtgg	15	6	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:1501680C>A	uc010qwz.1	-	3	498	c.308G>T	c.(307-309)AGC>ATC	p.S103I	MOB2_uc001lto.1_5'UTR|MOB2_uc001ltp.1_5'UTR|MOB2_uc001ltq.1_Missense_Mutation_p.S66I|MOB2_uc010qwy.1_5'UTR	NM_053005	NP_443731	Q70IA6	MOB2_HUMAN	HCCA2 protein	72						nucleus|perinuclear region of cytoplasm	metal ion binding				0						GGAGATGGTGCTATACTGCAG	0.567													A	1501680	C	A	1501680	3	1	23	1	0	0	0	0	1	0	0	0	9681	797	28	5	510	5	MOB2	11	1501680	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	10155	1501680	133504836	893	21487											
CD81	975	broad.mit.edu	37	chr11	2411682	2411682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgtggccctgtggctccGccatgacccgcagaccacca	13	16	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:2411682G>A	uc001lwf.1	+	2	340	c.107G>A	c.(106-108)CGC>CAC	p.R36H	CD81_uc001lwg.1_Missense_Mutation_p.R29H	NM_004356	NP_004347	P60033	CD81_HUMAN	CD81 antigen	36	Extracellular (Potential).				activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding				0		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTGTGGCTCCGCCATGACCCG	0.627													A	2411682	G	A	2411682	3	1	23	1	0	0	0	0	1	0	0	0	3039	1087	38	1	113	1	CD81	11	2411682	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	910002	2411682	132594834	894	21488											
CD81	975	broad.mit.edu	37	chr11	2417118	2417118	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttgactgctgtggctccaGcacactgactgctttgacca	10	13	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:2417118G>T	uc001lwf.1	+	6	712	c.479G>T	c.(478-480)AGC>ATC	p.S160I	CD81_uc001lwg.1_Missense_Mutation_p.S153I|CD81_uc001lwh.1_5'Flank	NM_004356	NP_004347	P60033	CD81_HUMAN	CD81 antigen	160	Extracellular (Potential).				activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding				0		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGTGGCTCCAGCACACTGACT	0.612													T	2417118	G	T	2417118	3	4	23	1	0	0	0	0	1	0	0	0	3039	971	34	5	501	5	CD81	11	2417118	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	5436	2417118	132589398	895	21489											
TRPM5	29850	broad.mit.edu	37	chr11	2436251	2436251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcagccacttctggccCgtgggccgcttggccgggcc	14	17	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:2436251C>T	uc001lwm.3	-	10	1515	c.1506G>A	c.(1504-1506)ACG>ACA	p.T502T	TRPM5_uc010qxl.1_Silent_p.T502T|TRPM5_uc009ydn.2_Silent_p.T504T	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	502	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACTTCTGGCCCGTGGGCCGCT	0.711													T	2436251	C	T	2436251	2	4	23	1	0	0	0	0	0	0	0	1	16586	639	23	1		1	TRPM5	11	2436251	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	19133	2436251	132570265	896	21490											
OSBPL5	114879	broad.mit.edu	37	chr11	3140787	3140787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggactcaccatctgactcGgaggcggccctgaagatcag	13	12	3	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:3140787G>A	uc001lxk.2	-	7	839	c.681C>T	c.(679-681)TCC>TCT	p.S227S	OSBPL5_uc010qxq.1_Silent_p.S138S|OSBPL5_uc009ydw.2_Silent_p.S159S|OSBPL5_uc001lxl.2_Silent_p.S159S|OSBPL5_uc009ydx.2_Silent_p.S251S	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	oxysterol-binding protein-like protein 5 isoform	227	PH.				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CATCTGACTCGGAGGCGGCCC	0.632													A	3140787	G	A	3140787	2	1	23	1	0	0	0	0	0	0	0	1	11280	1103	39	1		1	OSBPL5	11	3140787	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	704536	3140787	131865729	897	21491											
STIM1	6786	broad.mit.edu	37	chr11	4104524	4104524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaggtgacagcagcattgCgggagcgcctgcaccgctgg	17	12	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:4104524C>T	uc001lyv.2	+	10	1838	c.1270C>T	c.(1270-1272)CGG>TGG	p.R424W	STIM1_uc009yef.2_Missense_Mutation_p.R424W|STIM1_uc009yeg.2_Missense_Mutation_p.R251W	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	424	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			pancreas(1)	1		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		AGCAGCATTGCGGGAGCGCCT	0.557													T	4104524	C	T	4104524	3	4	23	1	0	0	0	0	1	0	0	0	15282	759	27	1	1308	1	STIM1	11	4104524	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	963737	4104524	130901992	898	21492											
OR51B4	79339	broad.mit.edu	37	chr11	5323054	5323054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatgaggacaagaagagtGccatttccaaaaaggacgga	11	7	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:5323054G>A	uc010qza.1	-	1	123	c.123C>T	c.(121-123)GGC>GGT	p.G41G	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B,	41	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGAAGAGTGCCATTTCCAA	0.498													A	5323054	G	A	5323054	2	1	23	1	0	0	0	0	0	0	0	1	11090	1306	46	2		2	OR51B4	11	5323054	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1218530	5323054	129683462	899	21493											
OR52E4	390081	broad.mit.edu	37	chr11	5905736	5905736	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggccatgttgtctatgattGatctgggtctgtccacatcc	10	10	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:5905736G>T	uc010qzs.1	+	1	214	c.214G>T	c.(214-216)GAT>TAT	p.D72Y	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCTATGATTGATCTGGGTCT	0.448													T	5905736	G	T	5905736	3	4	23	1	0	0	0	0	1	0	0	0	11116	1290	45	5	216	5	OR52E4	11	5905736	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	582682	5905736	129100780	900	21494											
OR52E4	390081	broad.mit.edu	37	chr11	5906312	5906312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttttcttttatgacacatCgttttggccaaaacattccc	4	10	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:5906312C>T	uc010qzs.1	+	1	790	c.790C>T	c.(790-792)CGT>TGT	p.R264C	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGACACATCGTTTTGGCCA	0.428													T	5906312	C	T	5906312	3	4	23	1	0	0	0	0	1	0	0	0	11116	884	31	1	792	1	OR52E4	11	5906312	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	576	5906312	129100204	901	21495											
CNGA4	1262	broad.mit.edu	37	chr11	6262667	6262667	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccttactctcaggtatcaGcacctgcagatcaacaagaa	7	12	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:6262667G>A	uc001mco.2	+	5	1031	c.924G>A	c.(922-924)CAG>CAA	p.Q308Q	CNGA4_uc010raa.1_Silent_p.Q77Q|CNGA4_uc001mcn.2_Silent_p.Q268Q	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	308	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGGTATCAGCACCTGCAGA	0.547													A	6262667	G	A	6262667	2	1	23	1	0	0	0	0	0	0	0	1	3599	962	34	2		2	CNGA4	11	6262667	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	356355	6262667	128743849	902	21496											
OR2D2	120776	broad.mit.edu	37	chr11	6913404	6913404	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagaagggcgcactgggTacacccaaaaatgaggaaaa	12	8	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:6913404T>C	uc010rau.1	-	1	328	c.328A>G	c.(328-330)ACC>GCC	p.T110A		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCGCACTGGGTACACCCAAAA	0.478													C	6913404	T	C	6913404	3	2	23	1	0	0	0	0	1	0	0	0	10994	1638	57	3	601	3	OR2D2	11	6913404	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	650737	6913404	128093112	903	21497											
SYT9	143425	broad.mit.edu	37	chr11	7324616	7324616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacagagccaacctcgtcGgcccggtcagtaatgccttc	10	15	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:7324616G>A	uc001mfe.2	+	2	729	c.492G>A	c.(490-492)TCG>TCA	p.S164S	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	164	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CAACCTCGTCGGCCCGGTCAG	0.587													A	7324616	G	A	7324616	2	1	23	1	0	0	0	0	0	0	0	1	15478	1103	39	1		1	SYT9	11	7324616	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	411212	7324616	127681900	904	21498											
SCUBE2	57758	broad.mit.edu	37	chr11	9048996	9048996	+	Frame_Shift_Del	DEL	G	G	-													acgatcaggatgcggcgcttGgggggtgggttgatggtcca							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:9048995_9048995TG>T	uc001mhi.2	-	18	2521	c.2446_2446CA>A	c.(2446-2448)aagfs	p.K816fs	SCUBE2_uc021qdk.1_Frame_Shift_Del_p.K292fs|SCUBE2_uc001mhj.2_Intron	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	844	CUB.					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ATGCGGCGCTTGGGGGGTGGG	0.567													-	9048996	G	-	9048996	7	5	23	1	0	1	0	1	0	0	0	0	13945	1335	47	0	486	0	SCUBE2	11	9048996	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	1724380	9048996	125957520	905	21499											
CSNK2A1	1457	broad.mit.edu	37	chr11	11373969	11373969	+	Frame_Shift_Del	DEL	A	A	-													cataattgtcacgtccatggAaaaatggctccttccgaaag							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:11373968_11373968GA>G	uc001mjp.3	-	0	937	c.699_699TC>C	c.(697-699)ttcfs	p.F233fs	GALNTL4_uc001mjo.2_Intron	NM_177559	NP_808227	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	233	Protein kinase.				Wnt receptor signaling pathway|axon guidance	NuRD complex|Sin3 complex|cytosol|plasma membrane	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CACGTCCATGGAAAAATGGCT	0.388													-	11373969	A	-	11373969	7	5	23	1	0	1	0	1	0	0	0	0	3957	261	9	0		0	CSNK2A1	11	11373969	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	2324973	11373969	123632547	906	21500											
FAR1	84188	broad.mit.edu	37	chr11	13734540	13734540	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacatcatggtgtataattgTacaacaggcagcactaatcc	7	9	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:13734540T>C	uc001mld.2	+	8	1070	c.915T>C	c.(913-915)TGT>TGC	p.C305C	FAR1_uc009ygp.2_Silent_p.C305C	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	305					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			ovary(1)|skin(1)	2						TGTATAATTGTACAACAGGCA	0.353													C	13734540	T	C	13734540	2	2	23	1	0	0	0	0	0	0	0	1	5674	1644	57	3		3	FAR1	11	13734540	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	2360571	13734540	121271976	907	21501											
PIK3C2A	5286	broad.mit.edu	37	chr11	17111327	17111327	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agctgataccatttaaccgtCtctttgctcaagttgaaatc	6	10	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:17111327C>T	uc001mmq.3	-	32	5085	c.5019G>A	c.(5017-5019)GAG>GAA	p.E1673E	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Silent_p.E1293E|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	1673					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	ATTTAACCGTCTCTTTGCTCA	0.398													T	17111327	C	T	17111327	2	4	23	1	0	0	0	0	0	0	0	1	11909	912	32	4		4	PIK3C2A	11	17111327	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3376787	17111327	117895189	908	21502											
ABCC8	6833	broad.mit.edu	37	chr11	17419240	17419240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgctcaccattagggcGtaggtaaggcccaggcccac	12	15	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:17419240G>A	uc001mnc.2	-	31	3984	c.3858C>T	c.(3856-3858)TAC>TAT	p.Y1286Y		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1286	Helical; Name=17; (By similarity).|ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCATTAGGGCGTAGGTAAGGC	0.632													A	17419240	G	A	17419240	2	1	23	1	0	0	0	0	0	0	0	1	58	1140	40	1		1	ABCC8	11	17419240	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	307913	17419240	117587276	909	21503											
MYOD1	4654	broad.mit.edu	37	chr11	17741370	17741370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccgcgacgtagacctgaCggcccccgacggctctctct	11	18	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:17741370C>T	uc001mni.2	+	1	261	c.41C>T	c.(40-42)ACG>ATG	p.T14M		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	14					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3						GTAGACCTGACGGCCCCCGAC	0.652													T	17741370	C	T	17741370	3	4	23	1	0	0	0	0	1	0	0	0	10088	536	19	1	43	1	MYOD1	11	17741370	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	322130	17741370	117265146	910	21504											
KCNC1	3746	broad.mit.edu	37	chr11	17793391	17793391	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccttacctacatcgagggCgtctgtgtggtctggttcac	11	11	3	0	rs147271572	by1000genomes	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:17793391C>T	uc001mnk.3	+	2	805	c.750C>T	c.(748-750)GGC>GGT	p.G250G	KCNC1_uc009yhc.1_Silent_p.G250G	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	250	Helical; Name=Segment S2; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						ACATCGAGGGCGTCTGTGTGG	0.537													T	17793391	C	T	17793391	2	4	23	1	0	0	0	0	0	0	0	1	8014	755	27	1		1	KCNC1	11	17793391	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	52021	17793391	117213125	911	21505											
MRGPRX3	117195	broad.mit.edu	37	chr11	18158919	18158919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctgggctgccgcatgcGcaggaacgctgtctccatct	12	15	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:18158919G>A	uc001mnu.2	+	3	531	c.170G>A	c.(169-171)CGC>CAC	p.R57H		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	57	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						TGCCGCATGCGCAGGAACGCT	0.577													A	18158919	G	A	18158919	3	1	23	1	0	0	0	0	1	0	0	0	9768	1087	38	1	172	1	MRGPRX3	11	18158919	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	365528	18158919	116847597	912	21506											
MRGPRX2	117194	broad.mit.edu	37	chr11	19076991	19076991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcgacatctccggggtgCcctgacggaagcatccttca	10	14	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:19076991C>T	uc001mph.2	-	2	1047	c.959G>A	c.(958-960)GGC>GAC	p.G320D		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	320	Cytoplasmic (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						CTCCGGGGTGCCCTGACGGAA	0.562													T	19076991	C	T	19076991	3	4	23	1	0	0	0	0	1	0	0	0	9767	739	26	2	37	2	MRGPRX2	11	19076991	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	918072	19076991	115929525	913	21507											
LUZP2	338645	broad.mit.edu	37	chr11	24759794	24759794	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgaagtctcttcaggaggcCctgcaaaatcagcttaagga	10	9	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:24759794C>A	uc001mqs.2	+	4	513	c.279C>A	c.(277-279)GCC>GCA	p.A93A	LUZP2_uc009yif.2_Silent_p.A7A|LUZP2_uc009yig.2_Silent_p.A93A	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2 precursor	93	Potential.					extracellular region				ovary(1)|skin(1)	2						TTCAGGAGGCCCTGCAAAATC	0.363													A	24759794	C	A	24759794	2	1	23	1	0	0	0	0	0	0	0	1	9087	610	22	5		5	LUZP2	11	24759794	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	5682803	24759794	110246722	914	21508											
FBXO3	26273	broad.mit.edu	37	chr11	33790478	33790478	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctttttaatagcagcatAatggtcaatgtatcttccta	7	8	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:33790478A>G	uc001muz.2	-	3	305	c.277T>C	c.(277-279)TAT>CAT	p.Y93H	FBXO3_uc001muy.2_5'UTR|FBXO3_uc009ykb.2_RNA|FBXO3_uc001mva.1_Missense_Mutation_p.Y93H|FBXO3_uc001mvb.1_Missense_Mutation_p.Y88H|FBXO3_uc010rek.1_RNA	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	F-box only protein 3 isoform 1	93					proteolysis	nucleus	ubiquitin-protein ligase activity			pancreas(1)	1		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		ATAGCAGCATAATGGTCAATG	0.393													G	33790478	A	G	33790478	3	3	23	1	0	0	0	0	1	0	0	0	5739	362	13	3	1183	3	FBXO3	11	33790478	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	9030684	33790478	101216038	915	21509											
CD44	960	broad.mit.edu	37	chr11	35250752	35250752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagccaagtggactcaacGgagaggccagcaagtctcag	13	10	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:35250752G>A	uc001mvu.2	+	18	2535	c.2101G>A	c.(2101-2103)GGA>AGA	p.G701R	CD44_uc001mvv.2_Missense_Mutation_p.G658R|CD44_uc001mvw.2_Missense_Mutation_p.G452R|CD44_uc001mvx.2_Missense_Mutation_p.G320R|CD44_uc001mvy.2_Missense_Mutation_p.R113Q|CD44_uc001mwc.3_Missense_Mutation_p.G388R|CD44_uc010rer.1_Missense_Mutation_p.G299R|CD44_uc009ykh.2_RNA	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	701	Cytoplasmic (Potential).				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			pancreas(1)	1	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	TGGACTCAACGGAGAGGCCAG	0.458													A	35250752	G	A	35250752	3	1	23	1	0	0	0	0	1	0	0	0	3017	1117	39	1	2171	1	CD44	11	35250752	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1460274	35250752	99755764	916	21510											
CHST1	8534	broad.mit.edu	37	chr11	45672030	45672030	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcggcggaagatcctgtcGgtggtgtggttgaccggcgg	19	10	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:45672030G>A	uc001mys.1	-	4	1115	c.444C>T	c.(442-444)ACC>ACT	p.T148T		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	148	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		AGATCCTGTCGGTGGTGTGGT	0.687													A	45672030	G	A	45672030	2	1	23	1	0	0	0	0	0	0	0	1	3397	1103	39	1		1	CHST1	11	45672030	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	10421278	45672030	89334486	917	21511											
PEX16	9409	broad.mit.edu	37	chr11	45935969	45935969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtgatgctgctgctgccGtccctcccgctgctggggag	14	15	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:45935969G>A	uc001nbu.2	-	7	904	c.592C>T	c.(592-594)CGG>TGG	p.R198W	PEX16_uc001nbt.2_Missense_Mutation_p.R198W	NM_004813	NP_004804	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16 isoform 1	198	Cytoplasmic (Potential).				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			ovary(2)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.223)		TGCTGCTGCCGTCCCTCCCGC	0.682													A	45935969	G	A	45935969	3	1	23	1	0	0	0	0	1	0	0	0	11743	1144	40	1	531	1	PEX16	11	45935969	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	263939	45935969	89070547	918	21512											
AMBRA1	55626	broad.mit.edu	37	chr11	46564318	46564318	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tactgtccgggtccactcagAtcctgtcaacccaggagcta	9	14	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:46564318A>C	uc010rgu.1	-	7	1609	c.1249T>G	c.(1249-1251)TCT>GCT	p.S417A	AMBRA1_uc010rgt.1_5'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.S417A|AMBRA1_uc001ncu.1_Missense_Mutation_p.S327A|AMBRA1_uc001ncv.2_Missense_Mutation_p.S327A|AMBRA1_uc001ncw.2_Missense_Mutation_p.S327A|AMBRA1_uc001ncx.2_Missense_Mutation_p.S417A	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	417					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GTCCACTCAGATCCTGTCAAC	0.592													C	46564318	A	C	46564318	3	2	23	1	0	0	0	0	1	0	0	0	565	333	12	5	2695	5	AMBRA1	11	46564318	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	628349	46564318	88442198	919	21513											
RAPSN	5913	broad.mit.edu	37	chr11	47464296	47464296	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatggcccggtacttcaggCtccagcctttgccatagttg	10	13	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:47464296C>A	uc001nfi.1	-	3	816	c.602G>T	c.(601-603)AGC>ATC	p.S201I	RAPSN_uc001nfj.1_Missense_Mutation_p.S201I|RAPSN_uc009yls.1_Missense_Mutation_p.S201I	NM_005055	NP_005046	Q13702	RAPSN_HUMAN	43 kD receptor-associated protein of the synapse	201					synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			ovary(1)	1						GTACTTCAGGCTCCAGCCTTT	0.612													A	47464296	C	A	47464296	3	1	23	1	0	0	0	0	1	0	0	0	13051	797	28	5	660	5	RAPSN	11	47464296	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	899978	47464296	87542220	920	21514											
KBTBD4	55709	broad.mit.edu	37	chr11	47594883	47594884	+	Frame_Shift_Ins	INS	-	-	C													aagtccagatcattctcctcINScccccctagtaagtagatga							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:47594882_47594883T>TC	uc001nfx.3	-	3	1327_1328	c.1156_1157A>GA	c.(1156-1158)gagfs	p.E386fs	PTPMT1_uc001nfs.4_3'UTR|PTPMT1_uc001nfv.4_3'UTR|PTPMT1_uc009ylt.3_3'UTR|PTPMT1_uc001nfu.4_3'UTR|NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.2_Frame_Shift_Ins_p.E411fs|KBTBD4_uc001nfz.3_Frame_Shift_Ins_p.E402fs|KBTBD4_uc001nfy.3_Frame_Shift_Ins_p.E386fs	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 4 (KBTBD4), transcript variant 2, mRNA.	386								p.E386fs*4(4)|p.E386E(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						ATCATTCTCCTCCCCCCCTAGT	0.515													C	47594884	-	C	47594883	7	5	23	1	0	1	1	0	0	0	0	0	7995	864	30	0	404	0	KBTBD4	11	47594883	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	130587	47594883	87411633	921	21515											
NUP160	23279	broad.mit.edu	37	chr11	47828658	47828658	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taaagcaccagagtctgttaAttccagtactgataagtgtt	8	7	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:47828658A>T	uc001ngm.2	-	19	2495	c.2410T>A	c.(2410-2412)TTA>ATA	p.L804I	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	804					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						GAGTCTGTTAATTCCAGTACT	0.363													T	47828658	A	T	47828658	3	4	23	1	0	0	0	0	1	0	0	0	10757	98	4	5	1972	5	NUP160	11	47828658	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	233775	47828658	87177858	922	21516											
OR4X1	390113	broad.mit.edu	37	chr11	48285771	48285771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgatggcctatgaccGctatgtggccatctgcaagc	13	10	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:48285771G>A	uc010rht.1	+	1	359	c.359G>A	c.(358-360)CGC>CAC	p.R120H		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X,	120	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3						GCCTATGACCGCTATGTGGCC	0.542													A	48285771	G	A	48285771	3	1	23	1	0	0	0	0	1	0	0	0	11084	1087	38	1	361	1	OR4X1	11	48285771	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	457113	48285771	86720745	923	21517											
OR4C13	283092	broad.mit.edu	37	chr11	49974702	49974702	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacctgtgtctcccacatcaCagttgtcatcttatccttta	4	13	4	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:49974702C>A	uc010rhz.1	+	1	728	c.728C>A	c.(727-729)ACA>AAA	p.T243K		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						TCCCACATCACAGTTGTCATC	0.458													A	49974702	C	A	49974702	3	1	23	1	0	0	0	0	1	0	0	0	11047	478	17	5	730	5	OR4C13	11	49974702	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1688931	49974702	85031814	924	21518											
OR5AP2	338675	broad.mit.edu	37	chr11	56409492	56409492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcaaattctcccagacaCgagaactgggtagagcaggg	12	9	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:56409492C>T	uc001njb.1	-	1	424	c.424G>A	c.(424-426)GTG>ATG	p.V142M		NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP,	142	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						CTCCCAGACACGAGAACTGGG	0.488													T	56409492	C	T	56409492	3	4	23	1	0	0	0	0	1	0	0	0	11144	536	19	1	530	1	OR5AP2	11	56409492	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	6434790	56409492	78597024	925	21519											
SSRP1	6749	broad.mit.edu	37	chr11	57093923	57093923	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtcctctgagctggggggAgtactggctagttcttcttc	14	9	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:57093923A>G	uc001njt.2	-	17	2355	c.2088T>C	c.(2086-2088)ACT>ACC	p.T696T	TNKS1BP1_uc001njs.2_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	696	Ser-rich.				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			ovary(2)	2						AGCTGGGGGGAGTACTGGCTA	0.557													G	57093923	A	G	57093923	2	3	23	1	0	0	0	0	0	0	0	1	15193	291	11	3		3	SSRP1	11	57093923	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	684431	57093923	77912593	926	21520											
PRG3	10394	broad.mit.edu	37	chr11	57147021	57147021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataggtagcggcagatcttGcaccttggacttccctgcac	10	12	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:57147021G>A	uc001njv.1	-	3	431	c.321C>T	c.(319-321)TGC>TGT	p.C107C		NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3 precursor	107	C-type lectin.				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding				0						GGCAGATCTTGCACCTTGGAC	0.537													A	57147021	G	A	57147021	2	1	23	1	0	0	0	0	0	0	0	1	12480	1311	46	2		2	PRG3	11	57147021	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	53098	57147021	77859495	927	21521											
RTN4RL2	349667	broad.mit.edu	37	chr11	57235469	57235469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtcgctgcatttgtaccGctgccagctcagcagcctgc	11	15	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:57235469G>A	uc010rjt.1	+	2	419	c.419G>A	c.(418-420)CGC>CAC	p.R140H		NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2 precursor	140	LRR 4.				axon regeneration	anchored to plasma membrane	receptor activity				0						CATTTGTACCGCTGCCAGCTC	0.657													A	57235469	G	A	57235469	3	1	23	1	0	0	0	0	1	0	0	0	13732	1087	38	1	425	1	RTN4RL2	11	57235469	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	88448	57235469	77771047	928	21522											
SERPING1	710	broad.mit.edu	37	chr11	57373915	57373915	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatttgatcccaagaaaacCagaatggaaccctttcactt	5	11	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:57373915C>A	uc001nkp.1	+	6	1115	c.924C>A	c.(922-924)ACC>ACA	p.T308T	SERPING1_uc001nkq.1_Silent_p.T308T|SERPING1_uc010rju.1_Silent_p.T256T|SERPING1_uc010rjv.1_Silent_p.T313T|SERPING1_uc001nkr.1_Silent_p.T308T|SERPING1_uc009ymi.1_Silent_p.T317T|SERPING1_uc009ymj.1_Silent_p.T308T|SERPING1_uc001nks.1_5'UTR	NM_000062	NP_000053	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	308					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)	1						CCAAGAAAACCAGAATGGAAC	0.433									Hereditary_Angioedema				A	57373915	C	A	57373915	2	1	23	1	0	0	0	0	0	0	0	1	14116	581	21	5		5	SERPING1	11	57373915	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	138446	57373915	77632601	929	21523											
CTNND1	1500	broad.mit.edu	37	chr11	57582936	57582936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcgatcgggggatctaggCgacatggagccattgaaggg	17	7	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:57582936C>T	uc001nmc.3	+	19	3343	c.2772C>T	c.(2770-2772)GGC>GGT	p.G924G	CTNND1_uc001nlh.1_Silent_p.G924G|CTNND1_uc001nlu.3_Silent_p.G817G|CTNND1_uc001nlt.3_Silent_p.G817G|CTNND1_uc001nls.3_Silent_p.G796G|CTNND1_uc001nlw.3_Silent_p.G817G|CTNND1_uc001nmf.3_Silent_p.G924G|CTNND1_uc001nmd.3_Silent_p.G870G|CTNND1_uc001nlk.3_Silent_p.G870G|CTNND1_uc001nme.3_Silent_p.G918G|CTNND1_uc001nll.3_Silent_p.G864G|CTNND1_uc001nmg.3_Silent_p.G864G|CTNND1_uc001nlj.3_Silent_p.G864G|CTNND1_uc001nlr.3_Silent_p.G864G|CTNND1_uc001nlp.3_Silent_p.G843G|CTNND1_uc001nlx.3_Silent_p.G601G|CTNND1_uc001nlz.3_Silent_p.G601G|CTNND1_uc009ymn.2_Silent_p.G595G|CTNND1_uc001nlm.3_Silent_p.G918G|CTNND1_uc001nly.3_Silent_p.G595G|CTNND1_uc001nmb.3_Silent_p.G595G|CTNND1_uc001nma.3_Silent_p.G574G|CTNND1_uc001nmi.3_Silent_p.G823G|CTNND1_uc001nmh.3_Silent_p.G918G|CTNND1_uc001nlq.3_Silent_p.G823G|CTNND1_uc001nln.3_Silent_p.G918G|CTNND1_uc001nli.3_Silent_p.G897G|CTNND1_uc001nlo.3_Silent_p.G817G|CTNND1_uc001nlv.3_Silent_p.G817G	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	924					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)				GGGATCTAGGCGACATGGAGC	0.388													T	57582936	C	T	57582936	2	4	23	1	0	0	0	0	0	0	0	1	4019	755	27	1		1	CTNND1	11	57582936	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	209021	57582936	77423580	930	21524											
OR1S1	219959	broad.mit.edu	37	chr11	57982425	57982425	+	Frame_Shift_Del	DEL	C	C	-													cttggatacgtaccttcataCccccatgtatctcttccttg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:57982424_57982424AC>A	uc010rkc.2	+	0	208	c.208_208AC>A	c.(208-210)accfs	p.T70fs		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H69H(1)		breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GTACCTTCATACCCCCATGTA	0.443													-	57982425	C	-	57982425	7	5	23	1	0	1	0	1	0	0	0	0	10972	507	18	0	211	0	OR1S1	11	57982425	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	399489	57982425	77024091	931	21525											
OR4D11	219986	broad.mit.edu	37	chr11	59271831	59271831	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctatgtctatgcccggccCttcactgccctccccacaga	6	18	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:59271831C>A	uc001noa.1	+	1	783	c.783C>A	c.(781-783)CCC>CCA	p.P261P		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						ATGCCCGGCCCTTCACTGCCC	0.552													A	59271831	C	A	59271831	2	1	23	1	0	0	0	0	0	0	0	1	11055	668	24	5		5	OR4D11	11	59271831	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1289406	59271831	75734685	932	21526											
OR4D9	390199	broad.mit.edu	37	chr11	59282549	59282549	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agttacctgtgaatctcaccTtcatacgcccatgtacttcc	5	14	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:59282549T>A	uc010rkv.1	+	1	164	c.164T>A	c.(163-165)CTT>CAT	p.L55H		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D,	55	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GAATCTCACCTTCATACGCCC	0.443													A	59282549	T	A	59282549	3	1	23	1	0	0	0	0	1	0	0	0	11059	1609	56	5	166	5	OR4D9	11	59282549	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	10718	59282549	75723967	933	21527											
CCDC86	79080	broad.mit.edu	37	chr11	60615436	60615436	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaagcccctgcgcacatcGtggcagcggaagatgaagga	14	11	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:60615436G>A	uc001nqa.2	+	2	967	c.798G>A	c.(796-798)TCG>TCA	p.S266S	CCDC86_uc001nqb.2_Silent_p.S10S	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	266					interspecies interaction between organisms	nucleus					0						TGCGCACATCGTGGCAGCGGA	0.627													A	60615436	G	A	60615436	2	1	23	1	0	0	0	0	0	0	0	1	2861	1132	40	1		1	CCDC86	11	60615436	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1332887	60615436	74391080	934	21528											
ZP1	22917	broad.mit.edu	37	chr11	60640952	60640952	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcagaggacagaccccAacctggtcctgctgctgcac	10	15	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:60640952A>G	uc001nqd.2	+	8	1365	c.1345A>G	c.(1345-1347)AAC>GAC	p.N449D	ZP1_uc001nqe.2_Missense_Mutation_p.N156D	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	449	Extracellular (Potential).|ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0						GACAGACCCCAACCTGGTCCT	0.632													G	60640952	A	G	60640952	3	3	23	1	0	0	0	0	1	0	0	0	18212	130	5	3	1375	3	ZP1	11	60640952	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	25516	60640952	74365564	935	21529											
SLC15A3	51296	broad.mit.edu	37	chr11	60704755	60704755	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gggacgccctctcatagcgtCcagcgatccagacaaatagg	11	13	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:60704755C>A	uc001nqn.2	-	8	1916	c.1682G>T	c.(1681-1683)GGA>GTA	p.G561V	SLC15A3_uc001nqo.2_3'UTR	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	solute carrier family 15, member 3	561					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0						CTCATAGCGTCCAGCGATCCA	0.597													A	60704755	C	A	60704755	3	1	23	1	0	0	0	0	1	0	0	0	14400	855	30	5	67	5	SLC15A3	11	60704755	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	63803	60704755	74301761	936	21530											
SLC15A3	51296	broad.mit.edu	37	chr11	60714281	60714281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcgggtggcgtcgcggcCgagatccatcacctgccatt	15	14	1	1	rs140918009		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:60714281C>T	uc001nqn.2	-	2	805	c.571G>A	c.(571-573)GGC>AGC	p.G191S	SLC15A3_uc001nqo.2_Missense_Mutation_p.G191S	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	solute carrier family 15, member 3	191					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0						GCGTCGCGGCCGAGATCCATC	0.587													T	60714281	C	T	60714281	3	4	23	1	0	0	0	0	1	0	0	0	14400	652	23	1	1202	1	SLC15A3	11	60714281	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	9526	60714281	74292235	937	21531											
DDB1	1642	broad.mit.edu	37	chr11	61094348	61094348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacctcataggtttttacGtgccgcccctgagggtcctg	11	13	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:61094348G>A	uc001nrc.3	-	5	793	c.567C>T	c.(565-567)CAC>CAT	p.H189H	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.H189H|DDB1_uc010rlg.1_RNA|DDB1_uc001nrd.2_Silent_p.H189H|DDB1_uc009ynl.1_Silent_p.H76H	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	189	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						AGGTTTTTACGTGCCGCCCCT	0.512								NER					A	61094348	G	A	61094348	2	1	23	1	0	0	0	0	0	0	0	1	4323	1136	40	1		1	DDB1	11	61094348	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	380067	61094348	73912168	938	21532											
TMEM138	51524	broad.mit.edu	37	chr11	61136177	61136177	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagttcatgcaagttcgaaGgtgacctcttgtcacactga	11	9	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:61136177G>T	uc001nrl.1	+	5	661	c.485G>T	c.(484-486)AGG>ATG	p.R162M	TMEM138_uc001nrm.2_3'UTR	NM_016464	NP_057548	Q9NPI0	TM138_HUMAN	transmembrane protein 138	162						integral to membrane					0						CAAGTTCGAAGGTGACCTCTT	0.493													T	61136177	G	T	61136177	3	4	23	1	0	0	0	0	1	0	0	0	16050	1000	35	5	499	5	TMEM138	11	61136177	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	41829	61136177	73870339	939	21533											
C11orf9	745	broad.mit.edu	37	chr11	61539013	61539014	+	Frame_Shift_Ins	INS	-	-	C													aagaggaagcactctgaatcINScccccccagcaccctcaatg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:61539012_61539013T>TC	uc001nsc.1	+	5	877_878	c.781_782T>TC	c.(781-783)tccfs	p.S261fs	C11orf9_uc001nse.1_Frame_Shift_Ins_p.S252fs	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	261	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S255fs*74(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						GCACTCTGAATCCCCCCCCAGC	0.634													C	61539014	-	C	61539013	7	5	23	1	0	1	1	0	0	0	0	0	1671	855	30	0	827	0	C11orf9	11	61539013	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	402836	61539013	73467503	940	21534											
FADS1	3992	broad.mit.edu	37	chr11	61578343	61578343	+	Frame_Shift_Del	DEL	G	G	-													atgtggttccaccaactggcGggggccccctacagaaaagc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:61578342_61578342CG>C	uc010rlm.2	-	4	924	c.796_796CG>G	c.(796-798)gccfs	p.A266fs	FADS1_uc001nsh.3_Frame_Shift_Del_p.A125fs|FADS1_uc010rln.1_Frame_Shift_Del_p.A125fs	NM_013402	NP_037534	O60427	FADS1_HUMAN	Homo sapiens fatty acid desaturase 1 (FADS1), mRNA.	209					cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CACCAACTGGCGGGGGCCCCC	0.557													-	61578343	G	-	61578343	7	5	23	1	0	1	0	1	0	0	0	0	5365	1103	39	0	742	0	FADS1	11	61578343	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	39330	61578343	73428173	941	21535											
TUT1	64852	broad.mit.edu	37	chr11	62343367	62343367	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgcaaggggtaaagggatCggcgtagcagagagcaggga	20	5	0	1	rs149885942		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:62343367C>T	uc001nto.2	-	9	1976	c.1938G>A	c.(1936-1938)CCG>CCA	p.P646P	EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank|TUT1_uc001ntp.1_Silent_p.P142P	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	608					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2						GTAAAGGGATCGGCGTAGCAG	0.627													T	62343367	C	T	62343367	2	4	23	1	0	0	0	0	0	0	0	1	16777	871	31	1		1	TUT1	11	62343367	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	765024	62343367	72663149	942	21536											
TUT1	64852	broad.mit.edu	37	chr11	62346056	62346056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactgagggagacatcaccGtggagacctgaaggccgatg	14	9	1	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:62346056G>A	uc001nto.2	-	5	1289	c.1251C>T	c.(1249-1251)CAC>CAT	p.H417H	TUT1_uc001ntp.1_5'Flank	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	379					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2						AGACATCACCGTGGAGACCTG	0.393													A	62346056	G	A	62346056	2	1	23	1	0	0	0	0	0	0	0	1	16777	1136	40	1		1	TUT1	11	62346056	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2689	62346056	72660460	943	21537											
STIP1	10963	broad.mit.edu	37	chr11	63960668	63960668	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaccacgtgctgtacagcaAccgttctgctgcctatgcca	8	15	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:63960668A>G	uc001nyk.1	+	2	275	c.128A>G	c.(127-129)AAC>AGC	p.N43S	STIP1_uc001nyj.2_Missense_Mutation_p.N43S|STIP1_uc010rnb.1_Missense_Mutation_p.N43S	NM_006819	NP_006810	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	43	TPR 2.				axon guidance|response to stress	Golgi apparatus|nucleus				ovary(2)|liver(1)	3						CTGTACAGCAACCGTTCTGCT	0.527													G	63960668	A	G	63960668	3	3	23	1	0	0	0	0	1	0	0	0	15284	43	2	3	134	3	STIP1	11	63960668	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	1614612	63960668	71045848	944	21538											
NRXN2	9379	broad.mit.edu	37	chr11	64418979	64418979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggtccatgtagggctggCcattgaacacgagcccactc	11	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:64418979C>T	uc001oar.2	-	15	3105	c.2666G>A	c.(2665-2667)GGC>GAC	p.G889D	NRXN2_uc001oas.2_Missense_Mutation_p.G849D|NRXN2_uc001oaq.2_Missense_Mutation_p.G556D	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	271	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						GTAGGGCTGGCCATTGAACAC	0.577											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	64418979	C	T	64418979	3	4	23	1	0	0	0	0	1	0	0	0	10666	739	26	2	2781	2	NRXN2	11	64418979	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	458311	64418979	70587537	945	21539											
ATG2A	23130	broad.mit.edu	37	chr11	64669492	64669492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcactgtccagggtgtctCcatcgccctcctcttccctt	6	18	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:64669492C>T	uc001obx.2	-	29	4176	c.4061G>A	c.(4060-4062)GGA>GAA	p.G1354E	ATG2A_uc001obw.2_Missense_Mutation_p.G119E	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1354							protein binding			ovary(1)|central_nervous_system(1)	2						CAGGGTGTCTCCATCGCCCTC	0.632													T	64669492	C	T	64669492	3	4	23	1	0	0	0	0	1	0	0	0	1093	855	30	4	1807	4	ATG2A	11	64669492	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	250513	64669492	70337024	946	21540											
SNX32	254122	broad.mit.edu	37	chr11	65617442	65617444	+	In_Frame_Del	DEL	GAG	GAG	-													tctcagtcgtgcggcagcacGaggagttcatctggctgcat							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:65617441_65617443CGAG>C	uc001ofr.3	+	2	319_321	c.192_194CGAG>C	c.(190-195)cacgag>caCg	p.E66del	SNX32_uc009yqt.3_3'UTR|SNX32_uc010rop.1_In_Frame_Del_p.E66del	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	Homo sapiens sorting nexin 32 (SNX32), mRNA.	66	PX.				cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		TGCGGCAGCACGAGGAGTTCATC	0.645													-	65617444	GAG	-	65617442	7	5	23	1	0	1	0	1	0	0	0	0	14902	1059	37	0	203	0	SNX32	11	65617442	In_Frame_Del	DEL	GAG	TCGA-BR-4368-01A-01D-1158-08	947950	65617442	69389074	947	21541											
RIN1	9610	broad.mit.edu	37	chr11	66102359	66102359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagggcataggcggaaggCtagggccactgcctgctggc	19	10	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:66102359C>T	uc001ohn.1	-	6	1038	c.911G>A	c.(910-912)AGC>AAC	p.S304N	RIN1_uc010roy.1_5'UTR|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Missense_Mutation_p.S199N|RIN1_uc010rpa.1_Missense_Mutation_p.S199N	NM_004292	NP_004283	Q13671	RIN1_HUMAN	ras inhibitor RIN1	304	Ras and 14-3-3 protein binding region.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			lung(2)|breast(1)	3						AGGCGGAAGGCTAGGGCCACT	0.711													T	66102359	C	T	66102359	3	4	23	1	0	0	0	0	1	0	0	0	13371	797	28	2	1460	2	RIN1	11	66102359	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	484917	66102359	68904157	948	21542											
SLC29A2	3177	broad.mit.edu	37	chr11	66131829	66131829	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggggcacgtggcacagcaTgaagaggggcacgaacagga	17	9	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:66131829T>C	uc001oht.2	-	11	1355	c.1126A>G	c.(1126-1128)ATG>GTG	p.M376V	SLC29A2_uc001ohs.2_Missense_Mutation_p.M256V|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.M256V|SLC29A2_uc001ohu.2_Missense_Mutation_p.M376V|SLC29A2_uc001ohv.2_Missense_Mutation_p.H331R	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	376	Helical; (Potential).				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1						TGGCACAGCATGAAGAGGGGC	0.602													C	66131829	T	C	66131829	3	2	23	1	0	0	0	0	1	0	0	0	14535	1464	51	3	252	3	SLC29A2	11	66131829	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	29470	66131829	68874687	949	21543											
PELI3	246330	broad.mit.edu	37	chr11	66235678	66235678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggaacaagggctcttgcGttctctcctctcccggtgaa	13	12	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:66235678G>A	uc001oic.3	+	2	243	c.79G>A	c.(79-81)GTT>ATT	p.V27I	PELI3_uc001oib.2_Missense_Mutation_p.V27I|PELI3_uc001oid.3_Missense_Mutation_p.V27I|PELI3_uc001oie.3_5'UTR	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN	pellino 3 alpha isoform 1	27						cytosol	protein binding			ovary(1)	1						GGGCTCTTGCGTTCTCTCCTC	0.607													A	66235678	G	A	66235678	3	1	23	1	0	0	0	0	1	0	0	0	11723	1145	40	1	81	1	PELI3	11	66235678	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	103849	66235678	68770838	950	21544											
BBS1	582	broad.mit.edu	37	chr11	66290971	66290971	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcgagctgagcgcccagcCtgtgggacttatccgggtac	13	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:66290971C>A	uc001oij.1	+	10	887	c.875C>A	c.(874-876)CCT>CAT	p.P292H	BBS1_uc001oii.1_Missense_Mutation_p.P329H|BBS1_uc010rpf.1_RNA|BBS1_uc010rpg.1_Missense_Mutation_p.P195H|BBS1_uc001oik.1_Missense_Mutation_p.P216H|BBS1_uc001oil.1_Intron|ZDHHC24_uc001oim.1_Intron|ZDHHC24_uc009yrg.1_Intron|BBS1_uc010rph.1_5'Flank	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	292					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1						AGCGCCCAGCCTGTGGGACTT	0.577									Bardet-Biedl_syndrome				A	66290971	C	A	66290971	3	1	23	1	0	0	0	0	1	0	0	0	1335	681	24	5	913	5	BBS1	11	66290971	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	55293	66290971	68715545	951	21545											
BBS1	582	broad.mit.edu	37	chr11	66297418	66297418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagccactcaagctgcacGccgtggtgagcatctgggtg	15	11	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:66297418G>A	uc001oij.1	+	14	1480	c.1468G>A	c.(1468-1470)GCC>ACC	p.A490T	BBS1_uc001oii.1_Missense_Mutation_p.A527T|BBS1_uc010rpg.1_Missense_Mutation_p.A393T|BBS1_uc001oik.1_Missense_Mutation_p.A414T|BBS1_uc001oil.1_Missense_Mutation_p.A361T|ZDHHC24_uc001oim.1_Intron|ZDHHC24_uc009yrg.1_Intron|BBS1_uc010rph.1_Missense_Mutation_p.A158T	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	490					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1						CAAGCTGCACGCCGTGGTGAG	0.667									Bardet-Biedl_syndrome				A	66297418	G	A	66297418	3	1	23	1	0	0	0	0	1	0	0	0	1335	1087	38	1	1522	1	BBS1	11	66297418	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	6447	66297418	68709098	952	21546											
RBM14	10432	broad.mit.edu	37	chr11	66392333	66392333	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgcagcttcttcgctcaActcctatggggctcagggtt	11	12	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:66392333A>G	uc001oit.2	+	2	1125	c.986A>G	c.(985-987)AAC>AGC	p.N329S	RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	329	TRBP-interacting domain.|Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						TCTTCGCTCAACTCCTATGGG	0.612													G	66392333	A	G	66392333	3	3	23	1	0	0	0	0	1	0	0	0	13115	43	2	3	992	3	RBM14	11	66392333	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	94915	66392333	68614183	953	21547											
RBM4B	83759	broad.mit.edu	37	chr11	66436179	66436179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaattccgtgtagctgcGgaagcctgagataattcact	11	8	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:66436179G>A	uc001oja.2	-	2	1665	c.996C>T	c.(994-996)TCC>TCT	p.S332S	RBM4B_uc001ojb.2_Silent_p.S332S	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	332	Interaction with TNPO3 (By similarity).				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding				0						GTGTAGCTGCGGAAGCCTGAG	0.557													A	66436179	G	A	66436179	2	1	23	1	0	0	0	0	0	0	0	1	13142	1103	39	1		1	RBM4B	11	66436179	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	43846	66436179	68570337	954	21548											
SPTBN2	6712	broad.mit.edu	37	chr11	66457417	66457417	+	Splice_Site	DEL	G	G	-													tccgcggaggacacatccctGgggggaggcagaaacagcat							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:66457416_66457416TG>T	uc001ojd.3	-	28	5883	c.5811_splice	c.e28-1	p.R1937_splice	SPTBN2_uc001ojc.1_5'Flank	NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1937					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GACACATCCCTGGGGGGAGGC	0.627													-	66457417	G	-	66457417	8	5	23	1	0	1	0	1	0	0	1	0	15119	1363	47	0		0	SPTBN2	11	66457417	Splice_Site	DEL	G	TCGA-BR-4368-01A-01D-1158-08	21238	66457417	68549099	955	21549											
C11orf80	79703	broad.mit.edu	37	chr11	66605896	66605896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggacgcacctgataacaGcagcctggagctcctagcag	12	12	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:66605896G>A	uc001ojf.2	+	15	1734	c.1727G>A	c.(1726-1728)AGC>AAC	p.S576N	C11orf80_uc001ojg.2_Missense_Mutation_p.S343N|C11orf80_uc001ojh.2_Missense_Mutation_p.S344N|C11orf80_uc001oji.2_Missense_Mutation_p.S344N|C11orf80_uc010rpl.1_Missense_Mutation_p.S210N|C11orf80_uc001ojj.2_Missense_Mutation_p.S174N	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	hypothetical protein LOC79703	421											0						CCTGATAACAGCAGCCTGGAG	0.433													A	66605896	G	A	66605896	3	1	23	1	0	0	0	0	1	0	0	0	1664	971	34	2	1785	2	C11orf80	11	66605896	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	148479	66605896	68400620	956	21550											
SYT12	91683	broad.mit.edu	37	chr11	66807288	66807288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctcacccctagagagtgCctgcctggaatgcccagcgg	11	14	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:66807288C>T	uc009yrl.2	+	4	465	c.235C>T	c.(235-237)CCT>TCT	p.P79S	SYT12_uc001oju.2_Missense_Mutation_p.P79S	NM_177963	NP_808878	Q8IV01	SYT12_HUMAN	synaptotagmin XII	79	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane				ovary(1)	1						CTAGAGAGTGCCTGCCTGGAA	0.597													T	66807288	C	T	66807288	3	4	23	1	0	0	0	0	1	0	0	0	15465	739	26	2	245	2	SYT12	11	66807288	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	201392	66807288	68199228	957	21551											
RPS6KB2	6199	broad.mit.edu	37	chr11	67200454	67200454	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccgactttggactctgCaaggagtctatccatgaggg	12	10	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:67200454C>T	uc001old.2	+	8	730	c.648C>T	c.(646-648)TGC>TGT	p.C216C	RPS6KB2_uc001olf.2_Silent_p.C16C|RPS6KB2_uc001olg.2_Silent_p.C216C|RPS6KB2_uc009yrq.2_Silent_p.C16C|RPS6KB2_uc001ole.2_RNA|RPS6KB2_uc001olh.2_RNA|RPS6KB2_uc009yrr.2_Silent_p.C47C	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	216	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)|salivary_gland(1)	7			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TTGGACTCTGCAAGGAGTCTA	0.622													T	67200454	C	T	67200454	2	4	23	1	0	0	0	0	0	0	0	1	13657	718	25	2		2	RPS6KB2	11	67200454	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	393166	67200454	67806062	958	21552											
CORO1B	57175	broad.mit.edu	37	chr11	67208620	67208620	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccagagcgccagctgccgCtcgctcattcggctgaagcc	11	17	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:67208620C>T	uc001olj.1	-	5	768	c.732G>A	c.(730-732)GAG>GAA	p.E244E	CORO1B_uc009yrs.1_RNA|CORO1B_uc001olk.1_Silent_p.E244E|CORO1B_uc009yrt.1_RNA|CORO1B_uc009yru.1_RNA|CORO1B_uc001oll.1_Silent_p.E244E|CORO1B_uc010rps.1_Silent_p.E244E	NM_020441	NP_065174	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	244	WD 4.				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			large_intestine(1)|ovary(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCAGCTGCCGCTCGCTCATTC	0.672													T	67208620	C	T	67208620	2	4	23	1	0	0	0	0	0	0	0	1	3754	796	28	2		2	CORO1B	11	67208620	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	8166	67208620	67797896	959	21553											
LRP5	4041	broad.mit.edu	37	chr11	68192599	68192599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaccaacatgcaggaccGggcagccaagatcgaacgcg	11	14	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:68192599G>A	uc001ont.2	+	15	3341	c.3266G>A	c.(3265-3267)CGG>CAG	p.R1089Q	LRP5_uc009ysg.2_Missense_Mutation_p.R499Q	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1089	LDL-receptor class B 18.|Beta-propeller 4.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						ATGCAGGACCGGGCAGCCAAG	0.672													A	68192599	G	A	68192599	3	1	23	1	0	0	0	0	1	0	0	0	8960	1116	39	1	3324	1	LRP5	11	68192599	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	983979	68192599	66813917	960	21554											
SHANK2	22941	broad.mit.edu	37	chr11	70332838	70332838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgctcgcggagggcactGctgggctgctctcgggcccc	16	16	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:70332838G>A	uc001oqc.2	-	21	3638	c.3560C>T	c.(3559-3561)GCA>GTA	p.A1187V	SHANK2_uc010rqn.1_Missense_Mutation_p.A599V|SHANK2_uc001opz.2_Missense_Mutation_p.A592V|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	808					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGAGGGCACTGCTGGGCTGCT	0.687													A	70332838	G	A	70332838	3	1	23	1	0	0	0	0	1	0	0	0	14265	1319	46	2	1997	2	SHANK2	11	70332838	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2140239	70332838	64673678	961	21555											
KRTAP5-7	440050	broad.mit.edu	37	chr11	71238792	71238792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagttgctgcaatccctGctgctcccagtctagctgct	9	15	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:71238792G>A	uc001oqq.1	+	1	480	c.446G>A	c.(445-447)TGC>TAC	p.C149Y		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	149	7 X 4 AA repeats of C-C-X-P.					keratin filament					0						tgcaatccctgctgctCCCAG	0.264													A	71238792	G	A	71238792	3	1	23	1	0	0	0	0	1	0	0	0	8566	1319	46	2	448	2	KRTAP5-7	11	71238792	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	905954	71238792	63767724	962	21556											
FOLR3	2352	broad.mit.edu	37	chr11	71850033	71850033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggaagaagaatgcctgCtgcacggccagcaccagcca	11	15	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:71850033C>T	uc001ory.1	+	3	373	c.323C>T	c.(322-324)GCT>GTT	p.A108V	FOLR3_uc001orx.1_Silent_p.C65C			P41439	FOLR3_HUMAN	SubName: Full=FOLR3 protein; Flags: Fragment;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity				0					Folic Acid(DB00158)	AGAATGCCTGCTGCACGGCCA	0.587													T	71850033	C	T	71850033	3	4	23	1	0	0	0	0	1	0	0	0	5983	805	28	2	201	2	FOLR3	11	71850033	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	611241	71850033	63156483	963	21557											
INPPL1	3636	broad.mit.edu	37	chr11	71948521	71948521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaccagggccagtggtccGgggccgtggtggggctgagg	20	9	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:71948521G>A	uc001osf.2	+	26	3380	c.3233G>A	c.(3232-3234)CGG>CAG	p.R1078Q	INPPL1_uc001osg.2_Missense_Mutation_p.R836Q	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1078	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						CCAGTGGTCCGGGGCCGTGGT	0.692													A	71948521	G	A	71948521	3	1	23	1	0	0	0	0	1	0	0	0	7761	1116	39	1	3335	1	INPPL1	11	71948521	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	98488	71948521	63057995	964	21558											
KCTD21	283219	broad.mit.edu	37	chr11	77885584	77885584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttccccccgacgttcagcGtgatggggtcggacatggca	14	13	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:77885584G>A	uc001ozb.2	-	2	92	c.17C>T	c.(16-18)ACG>ATG	p.T6M		NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	potassium channel tetramerisation domain	6	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GACGTTCAGCGTGATGGGGTC	0.552													A	77885584	G	A	77885584	3	1	23	1	0	0	0	0	1	0	0	0	8109	1145	40	1	769	1	KCTD21	11	77885584	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	5937063	77885584	57120932	965	21559											
ANKRD42	338699	broad.mit.edu	37	chr11	82936061	82936061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttacagtttatccaggggGctgagtatgaaggaaaagac	12	5	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:82936061G>A	uc001ozz.1	+	6	1089	c.667G>A	c.(667-669)GCT>ACT	p.A223T	ANKRD42_uc010rsv.1_Missense_Mutation_p.A251T|ANKRD42_uc001paa.2_Missense_Mutation_p.A251T|ANKRD42_uc001pab.1_Missense_Mutation_p.A250T	NM_182603	NP_872409	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	223	ANK 6.									skin(1)	1						TATCCAGGGGGCTGAGTATGA	0.313													A	82936061	G	A	82936061	3	1	23	1	0	0	0	0	1	0	0	0	670	1203	42	2	689	2	ANKRD42	11	82936061	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	5050477	82936061	52070455	966	21560											
FAT3	120114	broad.mit.edu	37	chr11	92088255	92088255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaagcaagtggtgccatcCgcttgagcaaagagcttgat	11	8	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:92088255C>T	uc001pdj.3	+	1	2994	c.2977C>T	c.(2977-2979)CGC>TGC	p.R993C		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	993	Cadherin 9.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGTGCCATCCGCTTGAGCAA	0.463										TCGA Ovarian(4;0.039)			T	92088255	C	T	92088255	3	4	23	1	0	0	0	0	1	0	0	0	5691	652	23	1	2979	1	FAT3	11	92088255	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	9152194	92088255	42918261	967	21561											
FAT3	120114	broad.mit.edu	37	chr11	92543082	92543082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatggccaaggccactgaCgggggtggcaggttctgcca	16	11	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:92543082C>T	uc001pdj.3	+	12	9338	c.9321C>T	c.(9319-9321)GAC>GAT	p.D3107D		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3107	Cadherin 28.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGCCACTGACGGGGGTGGCA	0.522										TCGA Ovarian(4;0.039)			T	92543082	C	T	92543082	2	4	23	1	0	0	0	0	0	0	0	1	5691	535	19	1		1	FAT3	11	92543082	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	454827	92543082	42463434	968	21562											
FAT3	120114	broad.mit.edu	37	chr11	92600334	92600334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacgcctgcaagcgcagccCgtgccagcacgggggcagct	15	16	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:92600334C>T	uc001pdj.3	+	21	12103	c.12086C>T	c.(12085-12087)CCG>CTG	p.P4029L	FAT3_uc001pdi.3_Missense_Mutation_p.P469L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4029	EGF-like 2.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAGCGCAGCCCGTGCCAGCAC	0.672										TCGA Ovarian(4;0.039)			T	92600334	C	T	92600334	3	4	23	1	0	0	0	0	1	0	0	0	5691	652	23	1	12168	1	FAT3	11	92600334	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	57252	92600334	42406182	969	21563											
MAML2	84441	broad.mit.edu	37	chr11	95712232	95712232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttagggcagggcccatGttatcattttgttggctgag	13	7	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:95712232G>A	uc001pfw.1	-	5	4636	c.3351C>T	c.(3349-3351)AAC>AAT	p.N1117N		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	1117					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CAGGGCCCATGTTATCATTTT	0.423			T	MECT1|CRTC3	salivary gland mucoepidermoid								A	95712232	G	A	95712232	2	1	23	1	0	0	0	0	0	0	0	1	9206	1368	48	4		4	MAML2	11	95712232	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3111898	95712232	39294284	970	21564											
MAML2	84441	broad.mit.edu	37	chr11	95825802	95825802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggtccagcagaagaggGcaaggctgaccagttggtag	16	7	0	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:95825802G>A	uc001pfw.1	-	2	2678	c.1393C>T	c.(1393-1395)CCC>TCC	p.P465S		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	465					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GCAGAAGAGGGCAAGGCTGAC	0.493			T	MECT1|CRTC3	salivary gland mucoepidermoid								A	95825802	G	A	95825802	3	1	23	1	0	0	0	0	1	0	0	0	9206	1203	42	2	2093	2	MAML2	11	95825802	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	113570	95825802	39180714	971	21565											
CNTN5	53942	broad.mit.edu	37	chr11	100126491	100126491	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccattgcctttgacctataGgacccccaggcccacctggg	9	16	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:100126491G>T	uc001pga.2	+	17	2345	c.2006_splice	c.e17-1	p.G669_splice	CNTN5_uc001pfz.2_Splice_Site_p.G669_splice|CNTN5_uc001pgb.2_Splice_Site_p.G595_splice|CNTN5_uc010ruk.1_Splice_Site	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long						cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTGACCTATAGGACCCCCAGG	0.448													T	100126491	G	T	100126491	5	4	23	1	0	0	0	0	0	0	1	0	3644	1014	35	5	2063	5	CNTN5	11	100126491	Splice_Site	SNP	G	TCGA-BR-4368-01A-01D-1158-08	4300689	100126491	34880025	972	21566											
KIAA1377	57562	broad.mit.edu	37	chr11	101833873	101833873	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaatgttacgactttaggaGgatctggagcagaccatatg	11	6	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:101833873G>T	uc001pgm.2	+	6	2377	c.2107G>T	c.(2107-2109)GGA>TGA	p.G703*	KIAA1377_uc001pgn.2_Nonsense_Mutation_p.G659*|KIAA1377_uc010run.1_Nonsense_Mutation_p.G504*|KIAA1377_uc009yxa.1_Nonsense_Mutation_p.G504*	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	703							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GACTTTAGGAGGATCTGGAGC	0.378													T	101833873	G	T	101833873	4	4	23	1	0	0	0	0	0	1	0	0	8227	1001	35	5	2129	5	KIAA1377	11	101833873	Nonsense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1707382	101833873	33172643	973	21567											
MMP8	4317	broad.mit.edu	37	chr11	102585436	102585436	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactcagagcccagtattgGttgcctgtcaatgattcagg	10	11	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:102585436G>A	uc001phe.2	-	8	1140	c.1041C>T	c.(1039-1041)AAC>AAT	p.N347N	MMP8_uc010rut.1_Intron|MMP8_uc010ruu.1_Silent_p.N324N	NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	347	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		CCCAGTATTGGTTGCCTGTCA	0.328													A	102585436	G	A	102585436	2	1	23	1	0	0	0	0	0	0	0	1	9668	1252	44	4		4	MMP8	11	102585436	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	751563	102585436	32421080	974	21568											
KIAA1826	84437	broad.mit.edu	37	chr11	105881195	105881195	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacttacttcaggactctgCggatccctttcttcctcttc	5	14	4	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:105881195C>T	uc001piy.2	-	2	623	c.450G>A	c.(448-450)CCG>CCA	p.P150P	KIAA1826_uc001piz.2_Silent_p.P150P	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	hypothetical protein LOC84437	150						nucleus				breast(1)	1		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)		CAGGACTCTGCGGATCCCTTT	0.418													T	105881195	C	T	105881195	2	4	23	1	0	0	0	0	0	0	0	1	8260	755	27	1		1	KIAA1826	11	105881195	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3295759	105881195	29125321	975	21569											
LAYN	143903	broad.mit.edu	37	chr11	111430909	111430909	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcccggacctagaggtctAcaatgtcataagaaaacaaa	8	10	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:111430909A>G	uc001plr.1	+	8	1211	c.875A>G	c.(874-876)TAC>TGC	p.Y292C	LAYN_uc001plp.1_Missense_Mutation_p.Y284C|LAYN_uc001plq.1_3'UTR|LAYN_uc001pls.1_3'UTR|LAYN_uc010rwg.1_Missense_Mutation_p.Y139C|LAYN_uc010rwh.1_Missense_Mutation_p.Y140C	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	layilin	292	Cytoplasmic (Potential).					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding				0		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		CTAGAGGTCTACAATGTCATA	0.512													G	111430909	A	G	111430909	3	3	23	1	0	0	0	0	1	0	0	0	8649	391	14	3	877	3	LAYN	11	111430909	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	5549714	111430909	23575607	976	21570											
BACE1	23621	broad.mit.edu	37	chr11	117186302	117186302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtagtagccctgccccgaCttgcccctcaggttgtccac	9	17	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:117186302C>T	uc001pqz.2	-	1	671	c.210G>A	c.(208-210)AAG>AAA	p.K70K	BACE1_uc001pqw.2_Silent_p.K70K|BACE1_uc001pqx.2_Silent_p.K70K|BACE1_uc001pqy.2_Silent_p.K70K|BACE1_uc001pra.1_Silent_p.K70K	NM_012104	NP_036236	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1 isoform A	70	Extracellular (Potential).				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			ovary(1)	1	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CCTGCCCCGACTTGCCCCTCA	0.701													T	117186302	C	T	117186302	2	4	23	1	0	0	0	0	0	0	0	1	1281	564	20	4		4	BACE1	11	117186302	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	5755393	117186302	17820214	977	21571											
NLRX1	79671	broad.mit.edu	37	chr11	119044614	119044614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccaacttgtggcccagcGctacacgcccctgaaggagg	13	14	0	1	rs146004436	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:119044614G>A	uc001pvu.2	+	5	871	c.656G>A	c.(655-657)CGC>CAC	p.R219H	NLRX1_uc010rzc.1_Missense_Mutation_p.R41H|NLRX1_uc001pvv.2_Missense_Mutation_p.R219H|NLRX1_uc001pvw.2_Missense_Mutation_p.R219H|NLRX1_uc001pvx.2_Missense_Mutation_p.R219H	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	219	Required for interaction with MAVS.|NACHT.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTGGCCCAGCGCTACACGCCC	0.647													A	119044614	G	A	119044614	3	1	23	1	0	0	0	0	1	0	0	0	10485	1087	38	1	670	1	NLRX1	11	119044614	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1858312	119044614	15961902	978	21572											
CBL	867	broad.mit.edu	37	chr11	119169107	119169107	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcccatgccaacactggtcCcgaggagtcagaaaatgagg	12	11	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:119169107C>A	uc001pwe.2	+	15	2429	c.2291C>A	c.(2290-2292)CCC>CAC	p.P764H		NM_005188	NP_005179	P22681	CBL_HUMAN	Cas-Br-M (murine) ecotropic retroviral	764	Interaction with CD2AP.|Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		AACACTGGTCCCGAGGAGTCA	0.502									CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome				A	119169107	C	A	119169107	3	1	23	1	0	0	0	0	1	0	0	0	2700	623	22	5	2349	5	CBL	11	119169107	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	124493	119169107	15837409	979	21573											
OR6X1	390260	broad.mit.edu	37	chr11	123624522	123624522	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgaggcacaggtagagaaAgtcttttggtggccagtggc	16	7	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:123624522A>C	uc010rzy.1	-	1	705	c.705T>G	c.(703-705)ACT>ACG	p.T235T		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGGTAGAGAAAGTCTTTTGGT	0.468													C	123624522	A	C	123624522	2	2	23	1	0	0	0	0	0	0	0	1	11212	59	3	5		5	OR6X1	11	123624522	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	4455415	123624522	11381994	980	21574											
OR8D4	338662	broad.mit.edu	37	chr11	123777442	123777443	+	Frame_Shift_Ins	INS	-	-	T													tggatgcatgattcagctgtINStttttttctgtgtttgtgtt					rs79561639	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:123777441_123777442G>GT	uc010saa.2	+	0	303_304	c.303_304G>GT	c.(301-306)ctgtttfs	p.L101fs		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													T	123777443	-	T	123777442	7	5	23	1	0	1	1	0	0	0	0	0	11233	1725	60	0	306	0	OR8D4	11	123777442	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	152920	123777442	11229074	981	21575											
FEZ1	9638	broad.mit.edu	37	chr11	125330401	125330401	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagggccctcaccttcataGgaccagttgttgttgaaggt	11	11	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:125330401G>T	uc001qbx.2	-	5	812	c.660C>A	c.(658-660)TCC>TCA	p.S220S	FEZ1_uc010sbc.1_Silent_p.S191S	NM_005103	NP_005094	Q99689	FEZ1_HUMAN	zygin 1 isoform 1	220					axon guidance|cell adhesion|transport	microtubule|plasma membrane				central_nervous_system(3)|ovary(1)	4	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CACCTTCATAGGACCAGTTGT	0.582													T	125330401	G	T	125330401	2	4	23	1	0	0	0	0	0	0	0	1	5823	987	35	5		5	FEZ1	11	125330401	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1552959	125330401	9676115	982	21576											
CDON	50937	broad.mit.edu	37	chr11	125880287	125880287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accatgttcatttgcagcttCgcagatgtatttccccgcat	7	12	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:125880287C>T	uc009zbw.2	-	8	1629	c.1501G>A	c.(1501-1503)GAA>AAA	p.E501K	CDON_uc001qdc.3_Missense_Mutation_p.E501K|CDON_uc001qdd.3_RNA	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	501	Ig-like C2-type 5.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TTTGCAGCTTCGCAGATGTAT	0.443													T	125880287	C	T	125880287	3	4	23	1	0	0	0	0	1	0	0	0	3170	893	31	1	2345	1	CDON	11	125880287	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	549886	125880287	9126229	983	21577											
ARHGAP32	9743	broad.mit.edu	37	chr11	128851757	128851757	+	Frame_Shift_Del	DEL	T	T	-													gagcccaaacaattgctagaTtttttgcatgcatatttgtg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:128851757delT	uc009zcp.2	-	15	1559	c.1559delA	c.(1558-1560)AATfs	p.N520fs	ARHGAP32_uc009zcq.1_Frame_Shift_Del_p.N480fs|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Frame_Shift_Del_p.N171fs	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	520	Rho-GAP.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						AATTGCTAGATTTTTTGCATG	0.333													-	128851757	T	-	128851757	7	5	23	1	0	1	0	1	0	0	0	0	881	1493	52	0	4736	0	ARHGAP32	11	128851757	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	2971470	128851757	6154759	984	21578											
PRDM10	56980	broad.mit.edu	37	chr11	129785641	129785641	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtgtgtgtgctcagcaTggggtctggctctccaggac	16	10	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:129785641T>C	uc001qfm.2	-	17	2684	c.2452A>G	c.(2452-2454)ATG>GTG	p.M818V	PRDM10_uc001qfj.2_Missense_Mutation_p.M732V|PRDM10_uc001qfk.2_Missense_Mutation_p.M728V|PRDM10_uc001qfl.2_Missense_Mutation_p.M732V|PRDM10_uc010sbx.1_Missense_Mutation_p.M728V|PRDM10_uc001qfn.2_Missense_Mutation_p.M814V|PRDM10_uc009zcs.1_Missense_Mutation_p.M1V	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	818					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GTGCTCAGCATGGGGTCTGGC	0.627													C	129785641	T	C	129785641	3	2	23	1	0	0	0	0	1	0	0	0	12451	1464	51	3	1054	3	PRDM10	11	129785641	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	933884	129785641	5220875	985	21579											
OPCML	4978	broad.mit.edu	37	chr11	132812832	132812832	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctccctacctgagggtggcGctctccccctgccggaccgt	12	18	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:132812832G>T	uc001qgs.2	-	1	206	c.156C>A	c.(154-156)AGC>AGA	p.S52R	OPCML_uc001qgu.2_Missense_Mutation_p.S45R|OPCML_uc010sck.1_Missense_Mutation_p.S52R|OPCML_uc001qgt.2_Missense_Mutation_p.S52R|OPCML_uc010scl.1_Missense_Mutation_p.S11R	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	52	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGAGGGTGGCGCTCTCCCCCT	0.677													T	132812832	G	T	132812832	3	4	23	1	0	0	0	0	1	0	0	0	10874	1078	38	5	909	5	OPCML	11	132812832	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3027191	132812832	2193684	986	21580											
IGSF9B	22997	broad.mit.edu	37	chr11	133800877	133800877	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagccttgccggccacgtAccgatgacggtgaggtgggt	15	13	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:133800877A>G	uc001qgx.3	-	11	1750	c.1519_splice	c.e11+1	p.G507_splice	IGSF9B_uc001qgy.1_Splice_Site_p.G349_splice	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B							integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCGGCCACGTACCGATGACGG	0.692													G	133800877	A	G	133800877	5	3	23	1	0	0	0	0	0	0	1	0	7606	405	14	3	2564	3	IGSF9B	11	133800877	Splice_Site	SNP	A	TCGA-BR-4368-01A-01D-1158-08	988045	133800877	1205639	987	21581											
NCAPD3	23310	broad.mit.edu	37	chr11	134022868	134022868	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttcagaggggtctttcGgagggacctcctgctgcagg	15	9	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:134022868G>A	uc001qhd.1	-	35	5074	c.4468C>T	c.(4468-4470)CGA>TGA	p.R1490*	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Silent_p.S440S	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1490					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GGGGTCTTTCGGAGGGACCTC	0.597													A	134022868	G	A	134022868	4	1	23	1	0	0	0	0	0	1	0	0	10206	1124	39	1	32	1	NCAPD3	11	134022868	Nonsense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	221991	134022868	983648	988	21582											
SLC6A12	6539	broad.mit.edu	37	chr12	313794	313794	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctggtgtattggcccaaCgccacctccaggaagaacac	11	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:313794C>T	uc001qhz.2	-	5	828	c.285G>A	c.(283-285)GCG>GCA	p.A95A	SLC6A12_uc001qia.2_Silent_p.A95A|SLC6A12_uc001qib.2_Silent_p.A95A|SLC6A12_uc009zdh.1_Silent_p.A95A|SLC6A12_uc009zdi.1_RNA	NM_003044	NP_003035	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter	95					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			ATTGGCCCAACGCCACCTCCA	0.587													T	313794	C	T	313794	2	4	23	1	0	0	0	0	0	0	0	1	14675	523	19	1		1	SLC6A12	12	313794	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08		313794	133538101	989	21583											
KDM5A	5927	broad.mit.edu	37	chr12	416953	416954	+	Frame_Shift_Ins	INS	-	-	T													tagcttgccagctggatcctINStttttttgggaacttgattt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:416952_416953C>CT	uc001qif.1	-	22	3960_3961	c.3597_3598G>AG	c.(3595-3600)aaaggafs	p.K1199fs		NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1199					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CAGCTGGATCCTTTTTTTTGGG	0.475			T	NUP98	AML								T	416954	-	T	416953	7	5	23	1	0	1	1	0	0	0	0	0	8133	1606	56	0	1499	0	KDM5A	12	416953	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	103159	416953	133434942	990	21584											
CACNA1C	775	broad.mit.edu	37	chr12	2795379	2795379	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgaagcgacagaaggacCgagggggagacatctctcag	15	9	3	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:2795379C>T	uc009zdu.1	+	48	6290	c.5977C>T	c.(5977-5979)CGA>TGA	p.R1993*	CACNA1C_uc009zdv.1_Nonsense_Mutation_p.R1907*|CACNA1C_uc001qkb.2_Nonsense_Mutation_p.R1910*|CACNA1C_uc001qkc.2_Nonsense_Mutation_p.R1929*|CACNA1C_uc001qke.2_Nonsense_Mutation_p.R1899*|CACNA1C_uc001qkf.2_Nonsense_Mutation_p.R1918*|CACNA1C_uc001qjz.2_Nonsense_Mutation_p.R1910*|CACNA1C_uc001qkd.2_Nonsense_Mutation_p.R1929*|CACNA1C_uc001qkg.2_Nonsense_Mutation_p.R1916*|CACNA1C_uc009zdw.1_Nonsense_Mutation_p.R1951*|CACNA1C_uc001qkh.2_Nonsense_Mutation_p.R1918*|CACNA1C_uc001qkl.2_Nonsense_Mutation_p.R1958*|CACNA1C_uc001qkn.2_Nonsense_Mutation_p.R1910*|CACNA1C_uc001qko.2_Nonsense_Mutation_p.R1930*|CACNA1C_uc001qkp.2_Nonsense_Mutation_p.R1910*|CACNA1C_uc001qkr.2_Nonsense_Mutation_p.R1927*|CACNA1C_uc001qku.2_Nonsense_Mutation_p.R1945*|CACNA1C_uc001qkq.2_Nonsense_Mutation_p.R1938*|CACNA1C_uc001qks.2_Nonsense_Mutation_p.R1910*|CACNA1C_uc001qkt.2_Nonsense_Mutation_p.R1929*|CACNA1C_uc001qki.1_Nonsense_Mutation_p.R1717*|CACNA1C_uc001qkj.1_Nonsense_Mutation_p.R1681*|CACNA1C_uc001qkk.1_Nonsense_Mutation_p.R1646*|CACNA1C_uc001qkm.1_Nonsense_Mutation_p.R1706*|CACNA1C_uc010sea.1_Nonsense_Mutation_p.R601*|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Nonsense_Mutation_p.R228*	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1993	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ACAGAAGGACCGAGGGGGAGA	0.582													T	2795379	C	T	2795379	4	4	23	1	0	0	0	0	0	1	0	0	2540	644	23	1	6615	1	CACNA1C	12	2795379	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2378426	2795379	131056516	991	21585											
FOXM1	2305	broad.mit.edu	37	chr12	2968088	2968088	+	Frame_Shift_Del	DEL	G	G	-													gagcctttgcggtgattcaaGggggggagcactttgcaagg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:2968087_2968087AG>A	uc001qlf.3	-	8	2292	c.2009_2009CT>T	c.(2008-2010)cttfs	p.L670fs	LOC100507424_uc021qtc.1_Intron|FOXM1_uc001qle.3_Frame_Shift_Del_p.L708fs|FOXM1_uc009zea.3_Frame_Shift_Del_p.L655fs|FOXM1_uc009zeb.3_Frame_Shift_Del_p.L654fs|FOXM1_uc001qlg.3_Frame_Shift_Del_p.L655fs	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	670					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CGGTGATTCAAGGGGGGGAGC	0.582													-	2968088	G	-	2968088	7	5	23	1	0	1	0	1	0	0	0	0	6018	1000	35	0	287	0	FOXM1	12	2968088	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	172709	2968088	130883807	992	21586											
VWF	7450	broad.mit.edu	37	chr12	6122709	6122709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtagggaggtcttcgattCgctggagcttcaccacgttg	14	9	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:6122709C>T	uc001qnn.1	-	32	5808	c.5558G>A	c.(5557-5559)CGA>CAA	p.R1853Q	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1853	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	GTCTTCGATTCGCTGGAGCTT	0.512													T	6122709	C	T	6122709	3	4	23	1	0	0	0	0	1	0	0	0	17243	884	31	1	2967	1	VWF	12	6122709	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3154621	6122709	127729186	993	21587											
ACRBP	84519	broad.mit.edu	37	chr12	6753627	6753627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcttgtgttcttgtgtcGgctcctgcctgtgctccact	10	14	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:6753627G>A	uc001qpu.1	-	5	668	c.620C>T	c.(619-621)CCG>CTG	p.P207L	ACRBP_uc010sfg.1_Missense_Mutation_p.P174L	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	proacrosin binding protein sp32 precursor	207						acrosomal vesicle|extracellular region				central_nervous_system(1)	1						TTCTTGTGTCGGCTCCTGCCT	0.333													A	6753627	G	A	6753627	3	1	23	1	0	0	0	0	1	0	0	0	170	1116	39	1	1035	1	ACRBP	12	6753627	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	630918	6753627	127098268	994	21588											
CD163L1	283316	broad.mit.edu	37	chr12	7522128	7522128	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccagagcagagccacaGcccagctgctgacacaccac	10	17	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:7522128G>A	uc001qsy.2	-	15	3890	c.3864C>T	c.(3862-3864)GGC>GGT	p.G1288G	CD163L1_uc010sge.1_Silent_p.G1298G	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	1288	SRCR 12.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						CAGAGCCACAGCCCAGCTGCT	0.602													A	7522128	G	A	7522128	2	1	23	1	0	0	0	0	0	0	0	1	2968	958	34	2		2	CD163L1	12	7522128	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	768501	7522128	126329767	995	21589											
MGST1	4257	broad.mit.edu	37	chr12	16510630	16510630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacagagtagaacgtgtacGcaggtaaaccagtgtctctt	11	8	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:16510630G>A	uc001rdf.2	+	3	283	c.218G>A	c.(217-219)CGC>CAC	p.R73H	MGST1_uc001rdg.2_Missense_Mutation_p.R73H|MGST1_uc009zih.1_RNA|MGST1_uc001rdh.2_Missense_Mutation_p.R73H|MGST1_uc001rdi.2_Missense_Mutation_p.R73H	NM_145792	NP_665735	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	73	Helical; (By similarity).	Glutathione (By similarity).			protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity				0		Hepatocellular(102;0.121)			Glutathione(DB00143)	GAACGTGTACGCAGGTAAACC	0.398													A	16510630	G	A	16510630	3	1	23	1	0	0	0	0	1	0	0	0	9560	1087	38	1	224	1	MGST1	12	16510630	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	8988502	16510630	117341265	996	21590											
ABCC9	10060	broad.mit.edu	37	chr12	22005061	22005061	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgatcttgccgattcatAagtgttttccagtgttcata	7	8	4	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:22005061A>G	uc001rfi.1	-	22	2759	c.2739T>C	c.(2737-2739)CTT>CTC	p.L913L	ABCC9_uc001rfh.2_Silent_p.L913L|ABCC9_uc001rfj.1_Silent_p.L877L	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	913	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCCGATTCATAAGTGTTTTCC	0.358													G	22005061	A	G	22005061	2	3	23	1	0	0	0	0	0	0	0	1	59	349	13	3		3	ABCC9	12	22005061	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	5494431	22005061	111846834	997	21591											
KRAS	3845	broad.mit.edu	37	chr12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggcactcttgcctacgCcaccagctccaactaccaca	5	18	2	0	rs112445441		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:25398281C>T	uc001rgp.1	-	2	219	c.38G>A	c.(37-39)GGC>GAC	p.G13D	KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	13	GTP.		G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).|G -> D (in a breast carcinoma cell line and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13D(2647)|p.G13C(182)|p.G13S(58)|p.G13R(41)|p.G13V(27)|p.G13A(24)|p.G13G(11)|p.G13E(4)|p.G12_G13insG(4)|p.G13N(3)|p.G13I(1)|p.G13_V14>DI(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(NCIH647_LUNG)|G13D(MDAMB231_BREAST)|G13D(NCIH747_LARGE_INTESTINE)|G13D(T84_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT15_LARGE_INTESTINE)|G13D(HCT116_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25398281	C	T	25398281	3	4	23	1	0	0	0	0	1	0	0	0	8438	739	26	2	668	2	KRAS	12	25398281	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3393220	25398281	108453614	998	21592											
C12orf72	254013	broad.mit.edu	37	chr12	31820594	31820594	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttaagttgcaggaatggcTattacactaaattgtgaatt	8	4	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:31820594T>A	uc009zjr.2	+	4	668	c.459T>A	c.(457-459)GCT>GCA	p.A153A	C12orf72_uc001rkl.2_Silent_p.A153A|C12orf72_uc001rkm.2_Silent_p.A153A	NM_001135864	NP_001129336	Q8IXQ9	MET20_HUMAN	hypothetical protein LOC254013	153						cytoplasm	protein methyltransferase activity				0						CAGGAATGGCTATTACACTAA	0.299													A	31820594	T	A	31820594	2	1	23	1	0	0	0	0	0	0	0	1	1713	1509	53	5		5	C12orf72	12	31820594	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	6422313	31820594	102031301	999	21593											
ALG10B	144245	broad.mit.edu	37	chr12	38714473	38714473	+	Frame_Shift_Del	DEL	T	T	-													attttcctcaactattctacTttttttcatttactctcttt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:38714472_38714472CT>C	uc001rln.4	+	2	1018	c.879_879CT>C	c.(877-879)tacfs	p.Y293fs		NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA.	293					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AACTATTCTACTTTTTTTCAT	0.343													-	38714473	T	-	38714473	7	5	23	1	0	1	0	1	0	0	0	0	512	1609	56	0	890	0	ALG10B	12	38714473	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	6893879	38714473	95137422	1000	21594											
KIF21A	55605	broad.mit.edu	37	chr12	39735929	39735929	+	Splice_Site	DEL	A	A	-													tcctctttaccagccacactAaaaaaaggaacataagggta							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:39735928_39735928TA>T	uc001rly.3	-	13	2133	c.1713_splice	c.e13-1	p.S571_splice	KIF21A_uc001rlw.3_5'Flank|KIF21A_uc001rlx.3_Splice_Site_p.S558_splice|KIF21A_uc001rlz.3_Splice_Site_p.S558_splice|KIF21A_uc010skl.2_Splice_Site_p.S558_splice	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	571					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCAGCCACACTAAAAAAAGGA	0.333													-	39735929	A	-	39735929	8	5	23	1	0	1	0	1	0	0	1	0	8288	377	13	0		0	KIF21A	12	39735929	Splice_Site	DEL	A	TCGA-BR-4368-01A-01D-1158-08	1021456	39735929	94115966	1001	21595											
LRRK2	120892	broad.mit.edu	37	chr12	40697791	40697791	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaatgatattcagtaccTaccaggtcccgcacactgga	8	13	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:40697791T>C	uc001rmg.3	+	27	3753	c.3632T>C	c.(3631-3633)CTA>CCA	p.L1211P	LRRK2_uc001rmh.1_Missense_Mutation_p.L833P|LRRK2_uc009zjw.2_Missense_Mutation_p.L49P|LRRK2_uc001rmi.2_Missense_Mutation_p.L44P	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1211	LRR 9.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATTCAGTACCTACCAGGTCCC	0.358													C	40697791	T	C	40697791	3	2	23	1	0	0	0	0	1	0	0	0	9033	1522	53	3	3738	3	LRRK2	12	40697791	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	961862	40697791	93154104	1002	21596											
PRICKLE1	144165	broad.mit.edu	37	chr12	42860065	42860065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagccacagcagaaggggcGgccgtccttcatgatatacc	11	13	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:42860065G>A	uc010skv.1	-	6	993	c.706C>T	c.(706-708)CGC>TGC	p.R236C	PRICKLE1_uc001rnl.2_Missense_Mutation_p.R236C|PRICKLE1_uc010skw.1_Missense_Mutation_p.R236C|PRICKLE1_uc001rnm.2_Missense_Mutation_p.R236C	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	236	LIM zinc-binding 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CAGAAGGGGCGGCCGTCCTTC	0.547													A	42860065	G	A	42860065	3	1	23	1	0	0	0	0	1	0	0	0	12486	1116	39	1	1801	1	PRICKLE1	12	42860065	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2162274	42860065	90991830	1003	21597											
PUS7L	83448	broad.mit.edu	37	chr12	44148382	44148382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaattttctttctttgcatCcaaatatttaaaaaagtcaa	4	6	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:44148382C>T	uc001rnq.3	-	2	1156	c.667G>A	c.(667-669)GAT>AAT	p.D223N	PUS7L_uc001rnr.3_Missense_Mutation_p.D223N|PUS7L_uc001rns.3_Missense_Mutation_p.D223N|PUS7L_uc009zkb.2_Intron	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S.	223					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			pancreas(1)	1	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTCTTTGCATCCAAATATTTA	0.303													T	44148382	C	T	44148382	3	4	23	1	0	0	0	0	1	0	0	0	12834	855	30	4	1470	4	PUS7L	12	44148382	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1288317	44148382	89703513	1004	21598											
SLC38A2	54407	broad.mit.edu	37	chr12	46760899	46760899	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgatccagatgctgcaagCtttccaactaatccaaatgc	6	11	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:46760899C>A	uc001rpg.2	-	6	881	c.441G>T	c.(439-441)AAG>AAT	p.K147N	SLC38A2_uc010sli.1_5'Flank|SLC38A2_uc001rph.2_Missense_Mutation_p.K47N	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	147	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ATGCTGCAAGCTTTCCAACTA	0.348													A	46760899	C	A	46760899	3	1	23	1	0	0	0	0	1	0	0	0	14604	796	28	5	1123	5	SLC38A2	12	46760899	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2612517	46760899	87090996	1005	21599											
LALBA	3906	broad.mit.edu	37	chr12	48962351	48962351	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttggcacacattatgtcaTcagtaatgtcatcatccagg	7	10	5	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:48962351T>C	uc001rrt.2	-	3	343	c.317A>G	c.(316-318)GAT>GGT	p.D106G		NM_002289	NP_002280	P00709	LALBA_HUMAN	lactalbumin, alpha- precursor	106					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity				0						CATTATGTCATCAGTAATGTC	0.438													C	48962351	T	C	48962351	3	2	23	1	0	0	0	0	1	0	0	0	8604	1435	50	3	119	3	LALBA	12	48962351	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	2201452	48962351	84889544	1006	21600											
CCNT1	904	broad.mit.edu	37	chr12	49110331	49110331	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccccatgtcctgaagcagaTtggccgcctgctggcgataa	12	13	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:49110331T>C	uc001rse.1	-	1	451	c.128A>G	c.(127-129)AAT>AGT	p.N43S	CCNT1_uc009zkz.1_5'UTR	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	43					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			ovary(3)|lung(1)|breast(1)|skin(1)	6						CTGAAGCAGATTGGCCGCCTG	0.557											OREG0021767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	49110331	T	C	49110331	3	2	23	1	0	0	0	0	1	0	0	0	2934	1493	52	3	2088	3	CCNT1	12	49110331	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	147980	49110331	84741564	1007	21601											
MLL2	8085	broad.mit.edu	37	chr12	49443667	49443667	+	Frame_Shift_Del	DEL	C	C	-													actccatggacagggagccaCccccctccgggtctggagag							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:49443667delC	uc001rta.3	-	11	3704	c.3704delG	c.(3703-3705)GGTfs	p.G1235fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1235					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CAGGGAGCCACCCCCCTCCGG	0.592			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			-	49443667	C	-	49443667	7	5	23	1	0	1	0	1	0	0	0	0	9621	507	18	0	13085	0	MLL2	12	49443667	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	333336	49443667	84408228	1008	21602											
MLL2	8085	broad.mit.edu	37	chr12	49446436	49446436	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggctgcccttggcatgcaAcgtacagagcatcgggctcg	13	12	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:49446436A>G	uc001rta.3	-	9	1169	c.1169T>C	c.(1168-1170)GTT>GCT	p.V390A		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	390	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TTGGCATGCAACGTACAGAGC	0.597			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			G	49446436	A	G	49446436	3	3	23	1	0	0	0	0	1	0	0	0	9621	43	2	3	15628	3	MLL2	12	49446436	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	2769	49446436	84405459	1009	21603											
DHH	50846	broad.mit.edu	37	chr12	49488122	49488122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccgctggcccactggcGcccagggtccgctctggcac	12	20	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:49488122G>A	uc001rtf.2	-	1	481	c.174C>T	c.(172-174)GGC>GGT	p.G58G		NM_021044	NP_066382	O43323	DHH_HUMAN	desert hedgehog preproprotein	58					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			lung(1)|breast(1)	2						GCCCACTGGCGCCCAGGGTCC	0.612													A	49488122	G	A	49488122	2	1	23	1	0	0	0	0	0	0	0	1	4483	1074	38	1		1	DHH	12	49488122	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	41686	49488122	84363773	1010	21604											
DIP2B	57609	broad.mit.edu	37	chr12	51086785	51086785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgctgggctgtggcacGgcatgtttgcggtaagctac	16	8	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:51086785G>A	uc001rwv.2	+	14	1864	c.1708G>A	c.(1708-1710)GGC>AGC	p.G570S	DIP2B_uc009zlt.2_5'UTR	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	570						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						GCTGTGGCACGGCATGTTTGC	0.388													A	51086785	G	A	51086785	3	1	23	1	0	0	0	0	1	0	0	0	4528	1116	39	1	1762	1	DIP2B	12	51086785	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1598663	51086785	82765110	1011	21605											
KRT7	3855	broad.mit.edu	37	chr12	52635388	52635388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagatggccaaatgcagcCgggctgaggctgaagcctgg	17	9	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:52635388C>T	uc001saa.1	+	5	953	c.826C>T	c.(826-828)CGG>TGG	p.R276W	KRT7_uc009zmf.1_Missense_Mutation_p.R276W	NM_005556	NP_005547	P08729	K2C7_HUMAN	keratin 7	276	Rod.|Coil 2.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.105)		CAAATGCAGCCGGGCTGAGGC	0.597													T	52635388	C	T	52635388	3	4	23	1	0	0	0	0	1	0	0	0	8483	643	23	1	844	1	KRT7	12	52635388	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1548603	52635388	81216507	1012	21606											
KRT82	3888	broad.mit.edu	37	chr12	52794311	52794311	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtcagggctgtgggtacCtcctcatacaggcttttcag	12	10	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:52794311C>T	uc001sai.1	-	4	892	c.777G>A	c.(775-777)GAG>GAA	p.E259E		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	keratin 82	259	Coil 1B.|Rod.					keratin filament	protein binding|structural constituent of epidermis			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.193)		CTGTGGGTACCTCCTCATACA	0.592													T	52794311	C	T	52794311	2	4	23	1	0	0	0	0	0	0	0	1	8496	695	24	4		4	KRT82	12	52794311	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	158923	52794311	81057584	1013	21607											
KRT6B	3854	broad.mit.edu	37	chr12	52841159	52841159	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccaggcctaagccactgcCgacaccgctggcaccgccat	9	19	0	0	rs150021015	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:52841159C>A	uc001sak.2	-	9	1558	c.1510G>T	c.(1510-1512)GGC>TGC	p.G504C		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	504	Tail.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)		AAGCCACTGCCGACACCGCTG	0.612													A	52841159	C	A	52841159	3	1	23	1	0	0	0	0	1	0	0	0	8481	652	23	5	188	5	KRT6B	12	52841159	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	46848	52841159	81010736	1014	21608											
KRT74	121391	broad.mit.edu	37	chr12	52967139	52967139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcaccttgatctgttcCcgctcctgggcgcgcacctt	9	16	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:52967139C>T	uc001sap.1	-	1	471	c.423G>A	c.(421-423)CGG>CGA	p.R141R		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	keratin 6 irs4	141	Coil 1A.|Rod.					keratin filament	structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGATCTGTTCCCGCTCCTGGG	0.597													T	52967139	C	T	52967139	2	4	23	1	0	0	0	0	0	0	0	1	8487	610	22	4		4	KRT74	12	52967139	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	125980	52967139	80884756	1015	21609											
ESPL1	9700	broad.mit.edu	37	chr12	53680216	53680216	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatacacactgttggcactGgagggcctgaaccagccatc	11	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:53680216G>A	uc001sck.2	+	18	3787	c.3696G>A	c.(3694-3696)CTG>CTA	p.L1232L	ESPL1_uc001scj.2_Silent_p.L907L|ESPL1_uc010soe.1_Intron	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1232					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						TGTTGGCACTGGAGGGCCTGA	0.547													A	53680216	G	A	53680216	2	1	23	1	0	0	0	0	0	0	0	1	5253	1335	47	4		4	ESPL1	12	53680216	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	713077	53680216	80171679	1016	21610											
PFDN5	5204	broad.mit.edu	37	chr12	53691682	53691682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaacacgtgctcatcgatGtgggaactgggtactatgta	13	7	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:53691682G>A	uc001scl.2	+	4	373	c.256G>A	c.(256-258)GTG>ATG	p.V86M	PFDN5_uc001scm.2_Missense_Mutation_p.V41M|PFDN5_uc001scn.2_RNA|PFDN5_uc001sco.2_RNA|C12orf10_uc010sof.1_5'Flank|C12orf10_uc001scp.3_5'Flank|C12orf10_uc009zmx.2_5'Flank|C12orf10_uc001scq.3_5'Flank	NM_002624	NP_002615	Q99471	PFD5_HUMAN	prefoldin subunit 5 isoform alpha	86					'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent	nucleus|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)	1						GCTCATCGATGTGGGAACTGG	0.507													A	53691682	G	A	53691682	3	1	23	1	0	0	0	0	1	0	0	0	11758	1377	48	4	270	4	PFDN5	12	53691682	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	11466	53691682	80160213	1017	21611											
MAP3K12	7786	broad.mit.edu	37	chr12	53876462	53876462	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttccagttcccagaagccCcacaccttcaccaggcccta	5	20	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:53876462C>A	uc001sdm.1	-	12	2124	c.2026G>T	c.(2026-2028)GGG>TGG	p.G676W	MAP3K12_uc001sdn.1_Missense_Mutation_p.G709W	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	676					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						CCCAGAAGCCCCACACCTTCA	0.662													A	53876462	C	A	53876462	3	1	23	1	0	0	0	0	1	0	0	0	9246	623	22	5	569	5	MAP3K12	12	53876462	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	184780	53876462	79975433	1018	21612											
HOXC13	3229	broad.mit.edu	37	chr12	54338839	54338839	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgcgggcgcaagaaacgCgtgccctacactaaggtgca	14	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:54338839C>T	uc001sei.2	+	2	907	c.792C>T	c.(790-792)CGC>CGT	p.R264R	HOXC13_uc010sop.1_RNA	NM_017410	NP_059106	P31276	HXC13_HUMAN	homeobox C13	264	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						GCAAGAAACGCGTGCCCTACA	0.617			T	NUP98	AML								T	54338839	C	T	54338839	2	4	23	1	0	0	0	0	0	0	0	1	7312	755	27	1		1	HOXC13	12	54338839	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	462377	54338839	79513056	1019	21613											
NFE2	4778	broad.mit.edu	37	chr12	54686821	54686821	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcaagagattcagcatcGctatagttgagggataatcc	10	8	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:54686821G>A	uc009znk.2	-	2	969	c.459C>T	c.(457-459)AGC>AGT	p.S153S	NFE2_uc001sfq.2_Silent_p.S153S|NFE2_uc001sfr.3_Silent_p.S153S|NFE2_uc009znl.2_Silent_p.S153S	NM_006163	NP_006154	Q16621	NFE2_HUMAN	nuclear factor, erythroid derived 2 isoform 1	153	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding				0						ATTCAGCATCGCTATAGTTGA	0.567													A	54686821	G	A	54686821	2	1	23	1	0	0	0	0	0	0	0	1	10366	1078	38	1		1	NFE2	12	54686821	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	347982	54686821	79165074	1020	21614											
NCKAP1L	3071	broad.mit.edu	37	chr12	54925553	54925553	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgtgctaaagcgcatgAccatcattggggttatcctc	9	9	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:54925553A>G	uc001sgc.3	+	25	2804	c.2725A>G	c.(2725-2727)ACC>GCC	p.T909A	NCKAP1L_uc010sox.1_Missense_Mutation_p.T451A|NCKAP1L_uc010soy.1_Missense_Mutation_p.T859A	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	909					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						AAAGCGCATGACCATCATTGG	0.498													G	54925553	A	G	54925553	3	3	23	1	0	0	0	0	1	0	0	0	10222	275	10	3	2823	3	NCKAP1L	12	54925553	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	238732	54925553	78926342	1021	21615											
OR10A7	121364	broad.mit.edu	37	chr12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-													ggctgtggtacccagatgtaCttcttcttcttctttggcag							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:55615113_55615115ACTT>A	uc010spf.2	+	0	305_307	c.305_307ACTT>A	c.(304-309)tacttc>tAtc	p.F107del		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						ACCCAGATGTACTTCTTCTTCTT	0.414													-	55615116	CTT	-	55615114	7	5	23	1	0	1	0	1	0	0	0	0	10895	576	20	0	308	0	OR10A7	12	55615114	In_Frame_Del	DEL	CTT	TCGA-BR-4368-01A-01D-1158-08	689561	55615114	78236781	1022	21616											
OR6C65	403282	broad.mit.edu	37	chr12	55794998	55794998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattctgaagattccctctgCccagcaaaggaaaaaggctt	8	10	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:55794998C>T	uc010spl.1	+	1	686	c.686C>T	c.(685-687)GCC>GTC	p.A229V		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ATTCCCTCTGCCCAGCAAAGG	0.398													T	55794998	C	T	55794998	3	4	23	1	0	0	0	0	1	0	0	0	11195	739	26	2	688	2	OR6C65	12	55794998	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	179884	55794998	78056897	1023	21617											
OR6C2	341416	broad.mit.edu	37	chr12	55846033	55846033	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaataagaacttttatcctGctgggactgacaggtgaccc	10	9	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:55846033G>T	uc001sgz.1	+	1	36	c.36G>T	c.(34-36)CTG>CTT	p.L12L		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C,	12	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						CTTTTATCCTGCTGGGACTGA	0.398													T	55846033	G	T	55846033	2	4	23	1	0	0	0	0	0	0	0	1	11191	1306	46	5		5	OR6C2	12	55846033	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	51035	55846033	78005862	1024	21618											
ERBB3	2065	broad.mit.edu	37	chr12	56477656	56477656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccttgagattgtgctcacGggacacaatgccgacctctc	9	13	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:56477656G>A	uc001sjh.2	+	2	397	c.204G>A	c.(202-204)ACG>ACA	p.T68T	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Silent_p.T9T|ERBB3_uc001sjg.2_Silent_p.T68T	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	68	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TTGTGCTCACGGGACACAATG	0.547													A	56477656	G	A	56477656	2	1	23	1	0	0	0	0	0	0	0	1	5208	1103	39	1		1	ERBB3	12	56477656	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	631623	56477656	77374239	1025	21619											
ZC3H10	84872	broad.mit.edu	37	chr12	56515173	56515173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacaaaatgctcagttccGcaatcaggccaaggtcataa	9	10	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:56515173G>A	uc001sjp.1	+	3	1016	c.827G>A	c.(826-828)CGC>CAC	p.R276H		NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	276	Potential.						nucleic acid binding|zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GCTCAGTTCCGCAATCAGGCC	0.537													A	56515173	G	A	56515173	3	1	23	1	0	0	0	0	1	0	0	0	17556	1087	38	1	829	1	ZC3H10	12	56515173	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	37517	56515173	77336722	1026	21620											
BAZ2A	11176	broad.mit.edu	37	chr12	56993616	56993616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcatcattgtcacccttcCggcagactagacatgtctgg	8	13	4	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:56993616C>T	uc001slq.1	-	26	5242	c.5048G>A	c.(5047-5049)CGG>CAG	p.R1683Q	BAZ2A_uc001slp.1_Missense_Mutation_p.R1681Q|BAZ2A_uc001slo.1_Missense_Mutation_p.R489Q|BAZ2A_uc009zov.1_Missense_Mutation_p.R649Q|BAZ2A_uc009zow.1_Missense_Mutation_p.R1651Q	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1683	PHD-type.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding				0						GTCACCCTTCCGGCAGACTAG	0.582													T	56993616	C	T	56993616	3	4	23	1	0	0	0	0	1	0	0	0	1331	652	23	1	685	1	BAZ2A	12	56993616	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	478443	56993616	76858279	1027	21621											
ATP5B	506	broad.mit.edu	37	chr12	57033821	57033821	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctcactgccaacaatgttGggatccatgatacgagaggt	11	9	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:57033821G>T	uc001slr.2	-	8	1335	c.1230C>A	c.(1228-1230)CCC>CCA	p.P410P		NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	410					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1						CAACAATGTTGGGATCCATGA	0.502													T	57033821	G	T	57033821	2	4	23	1	0	0	0	0	0	0	0	1	1148	1335	47	5		5	ATP5B	12	57033821	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	40205	57033821	76818074	1028	21622											
LRP1	4035	broad.mit.edu	37	chr12	57571281	57571281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccatgagtggggctgggcGccgcaccgtgcaccgggaga	17	13	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:57571281G>A	uc001snd.2	+	26	4734	c.4268G>A	c.(4267-4269)CGC>CAC	p.R1423H		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1423	LDL-receptor class B 10.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.R1423C(1)		ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGGGCTGGGCGCCGCACCGTG	0.667													A	57571281	G	A	57571281	3	1	23	1	0	0	0	0	1	0	0	0	8951	1087	38	1	4370	1	LRP1	12	57571281	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	537460	57571281	76280614	1029	21623											
LRP1	4035	broad.mit.edu	37	chr12	57584720	57584720	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccatcgaccaccgtgcCgagaagctctacttctctga	9	15	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:57584720C>T	uc001snd.2	+	43	7630	c.7164C>T	c.(7162-7164)GCC>GCT	p.A2388A		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	2388	Extracellular (Potential).|LDL-receptor class B 23.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCACCGTGCCGAGAAGCTCT	0.627													T	57584720	C	T	57584720	2	4	23	1	0	0	0	0	0	0	0	1	8951	639	23	1		1	LRP1	12	57584720	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	13439	57584720	76267175	1030	21624											
GLI1	2735	broad.mit.edu	37	chr12	57860075	57860075	+	Frame_Shift_Del	DEL	G	G	-													gaaggagttcgtgtgccactGggggggctgctccagggagc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:57860074_57860074TG>T	uc001snx.3	+	7	908	c.814_814TG>T	c.(814-816)tggfs	p.W272fs	GLI1_uc021qzi.1_Frame_Shift_Del_p.W231fs|GLI1_uc009zpq.3_Frame_Shift_Del_p.W144fs	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTG	0.597													-	57860075	G	-	57860075	7	5	23	1	0	1	0	1	0	0	0	0	6437	1357	47	0	841	0	GLI1	12	57860075	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	275355	57860075	75991820	1031	21625											
FAM19A2	338811	broad.mit.edu	37	chr12	62147455	62147455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccatcctttccgatccGgaagaactttacattcttct	5	13	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:62147455G>A	uc001sqw.2	-	4	1845	c.332C>T	c.(331-333)CCG>CTG	p.P111L	FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Missense_Mutation_p.P111L|FAM19A2_uc001sqy.2_RNA	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine	111						cytoplasm				ovary(1)	1			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TTTCCGATCCGGAAGAACTTT	0.408													A	62147455	G	A	62147455	3	1	23	1	0	0	0	0	1	0	0	0	5532	1116	39	1	71	1	FAM19A2	12	62147455	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	4287380	62147455	71704440	1032	21626											
C12orf56	115749	broad.mit.edu	37	chr12	64784109	64784109	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctcaccaggtcaatggccacGacgtcccgcagagccactac	9	17	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:64784109G>T	uc001ssa.3	-	1	237	c.237C>A	c.(235-237)GTC>GTA	p.V79V	uc001srx.2_Intron	NM_001099676	NP_001093146	Q8IXR9	CL056_HUMAN	hypothetical protein LOC115749	79											0			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		CAATGGCCACGACGTCCCGCA	0.677													T	64784109	G	T	64784109	2	4	23	1	0	0	0	0	0	0	0	1	1700	1045	37	5		5	C12orf56	12	64784109	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2636654	64784109	69067786	1033	21627											
GNS	2799	broad.mit.edu	37	chr12	65141603	65141604	+	Frame_Shift_Ins	INS	-	-	C													aggacttactactgcagttcINSccctccagagtgttgttcac							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:65141602_65141603T>TC	uc010ssq.2	-	3	614_615	c.444_445A>GA	c.(442-447)gggaacfs	p.G148fs	GNS_uc001ssf.3_Frame_Shift_Ins_p.G60fs|GNS_uc001ssg.4_Frame_Shift_Ins_p.G116fs|GNS_uc010ssr.2_Frame_Shift_Ins_p.G96fs	NM_002076	NP_002067	P15586	GNS_HUMAN	Homo sapiens glucosamine (N-acetyl)-6-sulfatase (GNS), mRNA.	116						lysosome	N-acetylglucosamine-6-sulfatase activity|metal ion binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		CTACTGCAGTTCCCCTCCAGAG	0.46													C	65141604	-	C	65141603	7	5	23	1	0	1	1	0	0	0	0	0	6550	842	30	0	1358	0	GNS	12	65141603	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	357494	65141603	68710292	1034	21628											
IRAK3	11213	broad.mit.edu	37	chr12	66605356	66605356	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagattcaaaacctaacataTgctgtcaaattatttaaaca	4	7	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:66605356T>C	uc001sth.2	+	5	669	c.567T>C	c.(565-567)TAT>TAC	p.Y189Y	IRAK3_uc010ssy.1_Silent_p.Y128Y	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	189	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8				GBM - Glioblastoma multiforme(28;0.0203)		ACCTAACATATGCTGTCAAAT	0.308													C	66605356	T	C	66605356	2	2	23	1	0	0	0	0	0	0	0	1	7824	1471	51	3		3	IRAK3	12	66605356	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	1463753	66605356	67246539	1035	21629											
GRIP1	23426	broad.mit.edu	37	chr12	66788074	66788074	+	Frame_Shift_Del	DEL	C	C	-													gaaattgtgatgccaaggggCcccccgtagcgtttaagctc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:66788073_66788073GC>G	uc001stk.3	-	15	2129	c.1888_1888GC>C	c.(1888-1890)cccfs	p.P630fs	GRIP1_uc010sta.1_Frame_Shift_Del_p.P574fs|GRIP1_uc001stj.3_Frame_Shift_Del_p.P412fs|GRIP1_uc001stm.3_Frame_Shift_Del_p.P630fs|GRIP1_uc001stl.1_Frame_Shift_Del_p.P522fs	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	682	PDZ 5.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ATGCCAAGGGGCCCCCCGTAG	0.408													-	66788074	C	-	66788074	7	5	23	1	0	1	0	1	0	0	0	0	6787	726	26	0	1379	0	GRIP1	12	66788074	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	182718	66788074	67063821	1036	21630											
MDM2	4193	broad.mit.edu	37	chr12	69229704	69229704	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaatttgaagttgaatctctCgactcagaagattatagcct	8	7	2	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:69229704C>T	uc001sui.2	+	9	1067	c.780C>T	c.(778-780)CTC>CTT	p.L260L	MDM2_uc009zri.2_Silent_p.L215L|MDM2_uc009zqx.2_Silent_p.L205L|MDM2_uc009zqw.2_Intron|MDM2_uc001suk.2_Intron|MDM2_uc009zqy.1_Silent_p.L249L|MDM2_uc001sun.3_Silent_p.L79L|MDM2_uc009zqz.2_Intron|MDM2_uc009zra.2_Silent_p.L84L|MDM2_uc001sum.1_Intron|MDM2_uc009zrd.2_5'UTR|MDM2_uc009zrc.2_Intron|MDM2_uc009zre.2_Intron|MDM2_uc009zrf.2_Intron|MDM2_uc001suo.2_Silent_p.L54L|MDM2_uc009zrg.2_Intron|MDM2_uc009zrh.2_Silent_p.L54L	NM_002392	NP_002383	Q00987	MDM2_HUMAN	mouse double minute 2 homolog isoform MDM2	254	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP (By similarity).|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|central_nervous_system(1)	3	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTGAATCTCTCGACTCAGAAG	0.353			A		sarcoma|glioma|colorectal|other								T	69229704	C	T	69229704	2	4	23	1	0	0	0	0	0	0	0	1	9413	871	31	1		1	MDM2	12	69229704	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2441630	69229704	64622191	1037	21631											
YEATS4	8089	broad.mit.edu	37	chr12	69783974	69783974	+	Frame_Shift_Del	DEL	A	A	-													aaaaattagaagctgctaagAaaaaaacaagctttgagatt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:69783974delA	uc001sux.2	+	7	783	c.562delA	c.(562-564)AAAfs	p.K188fs		NM_006530	NP_006521	O95619	YETS4_HUMAN	glioma-amplified sequence-41	188	Interaction with MLLT10.|Potential.|Interaction with TACC1.				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton				0	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			AGCTGCTAAGAAAAAAACAAG	0.289													-	69783974	A	-	69783974	7	5	23	1	0	1	0	1	0	0	0	0	17470	247	9	0	588	0	YEATS4	12	69783974	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	554270	69783974	64067921	1038	21632											
RAB3IP	117177	broad.mit.edu	37	chr12	70194001	70194001	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgttaggctgacttatccTtgtataatgaattccgattg	8	6	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:70194001T>G	uc001svp.2	+	7	1396	c.949T>G	c.(949-951)TTG>GTG	p.L317V	RAB3IP_uc001svm.2_Missense_Mutation_p.L301V|RAB3IP_uc001svn.2_Missense_Mutation_p.L301V|RAB3IP_uc001svo.2_Intron|RAB3IP_uc001svq.2_Missense_Mutation_p.L317V|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_Intron|RAB3IP_uc001svt.2_Missense_Mutation_p.L95V	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein isoform alpha 2	317					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TGACTTATCCTTGTATAATGA	0.343													G	70194001	T	G	70194001	3	3	23	1	0	0	0	0	1	0	0	0	12938	1606	56	5	975	5	RAB3IP	12	70194001	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	410027	70194001	63657894	1039	21633											
LGR5	8549	broad.mit.edu	37	chr12	71966693	71966693	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccagcagttgcttagcctCcgatcgctgtgagtatcacc	9	13	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:71966693C>T	uc001swl.2	+	13	1248	c.1200C>T	c.(1198-1200)CTC>CTT	p.L400L	LGR5_uc001swm.2_Silent_p.L376L|LGR5_uc001swn.1_RNA	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	400	LRR 15.|Extracellular (Potential).					integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						TGCTTAGCCTCCGATCGCTGT	0.418													T	71966693	C	T	71966693	2	4	23	1	0	0	0	0	0	0	0	1	8757	842	30	4		4	LGR5	12	71966693	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1772692	71966693	61885202	1040	21634											
E2F7	144455	broad.mit.edu	37	chr12	77436967	77436967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattggctatgtcatagaggCgtcgtacctttgcttgaaga	11	8	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:77436967C>T	uc001sym.3	-	7	1237	c.1001G>A	c.(1000-1002)CGC>CAC	p.R334H		NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	334	Potential.			R->A: Loss of DNA-binding and inhibition of E2F1-dependent activation.	cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						GTCATAGAGGCGTCGTACCTT	0.463													T	77436967	C	T	77436967	3	4	23	1	0	0	0	0	1	0	0	0	4872	768	27	1	1762	1	E2F7	12	77436967	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	5470274	77436967	56414928	1041	21635											
PPFIA2	8499	broad.mit.edu	37	chr12	81799628	81799628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctgactctgtggatccctCgcttgatgccatttttcttt	7	11	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:81799628C>T	uc001szo.1	-	8	861	c.700G>A	c.(700-702)GAG>AAG	p.E234K	PPFIA2_uc010sue.1_Missense_Mutation_p.E134K|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	160										ovary(3)|lung(2)|pancreas(1)	6						GTGGATCCCTCGCTTGATGCC	0.398													T	81799628	C	T	81799628	3	4	23	1	0	0	0	0	1	0	0	0	12310	893	31	1	3173	1	PPFIA2	12	81799628	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	4362661	81799628	52052267	1042	21636											
VEZT	55591	broad.mit.edu	37	chr12	95694231	95694231	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcagatggaagtggtctgAccactgcccctccaactccc	9	15	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:95694231A>G	uc001tdz.2	+	12	2227	c.2122A>G	c.(2122-2124)ACC>GCC	p.T708A	VEZT_uc009ztb.1_RNA|VEZT_uc009ztc.1_Missense_Mutation_p.T73A|VEZT_uc001tdy.2_RNA	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane	708						acrosomal vesicle|adherens junction|integral to membrane|nucleus				ovary(1)	1						AAGTGGTCTGACCACTGCCCC	0.493													G	95694231	A	G	95694231	3	3	23	1	0	0	0	0	1	0	0	0	17153	275	10	3	2168	3	VEZT	12	95694231	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	13894603	95694231	38157664	1043	21637											
CCDC38	120935	broad.mit.edu	37	chr12	96275317	96275317	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaaactgtcttctgaaccGaaactttcagccaggctgta	7	12	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:96275317G>A	uc001tek.1	-	11	1170	c.936C>T	c.(934-936)TTC>TTT	p.F312F		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	312										skin(1)	1						CTTCTGAACCGAAACTTTCAG	0.343													A	96275317	G	A	96275317	2	1	23	1	0	0	0	0	0	0	0	1	2810	1049	37	1		1	CCDC38	12	96275317	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	581086	96275317	37576578	1044	21638											
CCDC38	120935	broad.mit.edu	37	chr12	96300205	96300205	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggtcattaataaattcaTggacagtcctttttgtgtcg	8	7	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:96300205T>C	uc001tek.1	-	5	563	c.329A>G	c.(328-330)CAT>CGT	p.H110R		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	110										skin(1)	1						AATAAATTCATGGACAGTCCT	0.343													C	96300205	T	C	96300205	3	2	23	1	0	0	0	0	1	0	0	0	2810	1464	51	3	1410	3	CCDC38	12	96300205	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	24888	96300205	37551690	1045	21639											
FICD	11153	broad.mit.edu	37	chr12	108913233	108913233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactctgggttcaaggagaCgcttcctgtgaagccctaac	10	13	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:108913233C>T	uc001tmx.1	+	3	1504	c.1358C>T	c.(1357-1359)ACG>ATG	p.T453M		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Huntingtin interacting protein E	453					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity				0						TTCAAGGAGACGCTTCCTGTG	0.488													T	108913233	C	T	108913233	3	4	23	1	0	0	0	0	1	0	0	0	5887	536	19	1	1364	1	FICD	12	108913233	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	12613028	108913233	24938662	1046	21640											
CORO1C	23603	broad.mit.edu	37	chr12	109041214	109041214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccatctgctgttctaactTggaaatacgctcatcttgat	7	10	4	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:109041214T>C	uc001tnj.2	-	11	1486	c.1390A>G	c.(1390-1392)AAG>GAG	p.K464E	CORO1C_uc009zva.2_Missense_Mutation_p.K517E|CORO1C_uc010sxf.1_Missense_Mutation_p.K427E	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C isoform 1	464	Potential.				actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			skin(3)	3						TGTTCTAACTTGGAAATACGC	0.403													C	109041214	T	C	109041214	3	2	23	1	0	0	0	0	1	0	0	0	3755	1821	63	3	38	3	CORO1C	12	109041214	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	127981	109041214	24810681	1047	21641											
ALKBH2	121642	broad.mit.edu	37	chr12	109526014	109526014	+	Frame_Shift_Del	DEL	T	T	-													aactgttaaaaatgtttttaTtttttagtaagcaaaatttt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:109526014delT	uc001tnx.2	-	4	1176	c.783delA	c.(781-783)AAAfs	p.K261fs	ALKBH2_uc001tny.2_Frame_Shift_Del_p.K261fs|ALKBH2_uc010sxj.1_Frame_Shift_Del_p.K261fs|ALKBH2_uc009zvd.2_3'UTR|ALKBH2_uc010sxk.1_3'UTR	NM_001145374	NP_001138846	Q6NS38	ALKB2_HUMAN	AlkB homolog 2	261					DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)	AATGTTTTTATTTTTTAGTAA	0.418								Direct_reversal_of_damage					-	109526014	T	-	109526014	7	5	23	1	0	1	0	1	0	0	0	0	527	1490	52	0	6	0	ALKBH2	12	109526014	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	484800	109526014	24325881	1048	21642											
CUX2	23316	broad.mit.edu	37	chr12	111729244	111729244	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtgcctgtgtttgaggcGgcacgcagcctagacgacag	14	13	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:111729244G>A	uc001tsa.1	+	5	477	c.324G>A	c.(322-324)GCG>GCA	p.A108A	CUX2_uc001tsb.1_Silent_p.A163A	NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	108						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						TGTTTGAGGCGGCACGCAGCC	0.652													A	111729244	G	A	111729244	2	1	23	1	0	0	0	0	0	0	0	1	4065	1103	39	1		1	CUX2	12	111729244	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2203230	111729244	22122651	1049	21643											
CUX2	23316	broad.mit.edu	37	chr12	111758485	111758485	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccgagcagtacgagctgtAcatgtaccgtgaggtagaca	12	11	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:111758485A>G	uc001tsa.1	+	17	2825	c.2672A>G	c.(2671-2673)TAC>TGC	p.Y891C		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	891	CUT 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						TACGAGCTGTACATGTACCGT	0.667													G	111758485	A	G	111758485	3	3	23	1	0	0	0	0	1	0	0	0	4065	391	14	3	2738	3	CUX2	12	111758485	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	29241	111758485	22093410	1050	21644											
C12orf51	283450	broad.mit.edu	37	chr12	112622112	112622120	+	In_Frame_Del	DEL	CCCAGGCTG	CCCAGGCTG	-													ctgcattgtccaggggctccCccaggctgcccaggctgccc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:112622111_112622119CCCCAGGCTG>C	uc021reb.1	-	60	10645_10653	c.10249_10257CAGCCTGGGG>G	c.(10249-10257)agcctgggg>G	p.SLG3417del		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CCAGGGGCTCCcccaggctgcccaggctg	0.679													-	112622120	CCCAGGCTG	-	112622112	7	5	23	1	0	1	0	1	0	0	0	0	1696	623	22	0	2662	0	C12orf51	12	112622112	In_Frame_Del	DEL	CCCAGGCTG	TCGA-BR-4368-01A-01D-1158-08	863627	112622112	21229783	1051	21645											
PTPN11	5781	broad.mit.edu	37	chr12	112924286	112924286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctctactccaggggaataCggagagaacggtctggcaat	14	9	2	1	rs121918467		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:112924286C>T	uc001ttx.2	+	11	1612	c.1232C>T	c.(1231-1233)ACG>ATG	p.T411M	PTPN11_uc001ttw.1_Missense_Mutation_p.T411M	NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	415	Tyrosine-protein phosphatase.		T -> M (in NS1).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392						CAGGGGAATACGGAGAGAACG	0.527			Mis		JMML|AML|MDS		Noonan Syndrome		Noonan_syndrome				T	112924286	C	T	112924286	3	4	23	1	0	0	0	0	1	0	0	0	12780	536	19	1	1274	1	PTPN11	12	112924286	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	302174	112924286	20927609	1052	21646											
SLC24A6	80024	broad.mit.edu	37	chr12	113758306	113758306	+	Splice_Site	DEL	G	G	-													taaccagcacgccagcgcctGgggggaggaggccagagctc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:113758305_113758305TG>T	uc001tvc.3	-	7	737	c.527_splice	c.e7-1	p.G176_splice	SLC24A6_uc001tuz.3_5'Flank|SLC24A6_uc001tva.3_Splice_Site|SLC24A6_uc001tvb.3_Intron	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	176					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CGCCAGCGCCTGGGGGGAGGA	0.647													-	113758306	G	-	113758306	8	5	23	1	0	1	0	1	0	0	1	0	14470	1363	47	0		0	SLC24A6	12	113758306	Splice_Site	DEL	G	TCGA-BR-4368-01A-01D-1158-08	834020	113758306	20093589	1053	21647											
NOS1	4842	broad.mit.edu	37	chr12	117655869	117655869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcatcggtgtcttttttgCtctcttcaatgaaggcaatg	8	9	4	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:117655869C>T	uc001twm.1	-	28	4957	c.4271G>A	c.(4270-4272)AGC>AAC	p.S1424N		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1424					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTCTTTTTTGCTCTCTTCAAT	0.507													T	117655869	C	T	117655869	3	4	23	1	0	0	0	0	1	0	0	0	10541	797	28	2	41	2	NOS1	12	117655869	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3897563	117655869	16196026	1054	21648											
NOS1	4842	broad.mit.edu	37	chr12	117705943	117705943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctaagttcatcttcttggCcacttcctgaaagaggaagg	10	9	4	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:117705943C>T	uc001twm.1	-	11	2532	c.1846G>A	c.(1846-1848)GCC>ACC	p.A616T		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	616					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATCTTCTTGGCCACTTCCTGA	0.473													T	117705943	C	T	117705943	3	4	23	1	0	0	0	0	1	0	0	0	10541	739	26	2	2534	2	NOS1	12	117705943	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	50074	117705943	16145952	1055	21649											
PRKAB1	5564	broad.mit.edu	37	chr12	120106124	120106124	+	Frame_Shift_Del	DEL	G	G	-													acgccccggagggacagctcGgggggcaccaaggacgggga							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:120106123_120106123CG>C	uc009zwu.3	+	1	177	c.74_74CG>C	c.(73-75)tcgfs	p.S25fs	PRKAB1_uc001txg.3_Frame_Shift_Del_p.S25fs	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN	Homo sapiens protein kinase, AMP-activated, beta 1 non-catalytic subunit (PRKAB1), mRNA.	25					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		p.T28fs*39(1)		endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	AGGGACAGCTCGGGGGGCACC	0.662													-	120106124	G	-	120106124	7	5	23	1	0	1	0	1	0	0	0	0	12495	1103	39	0	77	0	PRKAB1	12	120106124	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	2400181	120106124	13745771	1056	21650											
CIT	11113	broad.mit.edu	37	chr12	120210640	120210640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggttctgcagcttctccagCtccctctcggctcgctcctt	8	18	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:120210640C>T	uc001txi.1	-	17	2069	c.2016G>A	c.(2014-2016)GAG>GAA	p.E672E	CIT_uc001txh.1_Silent_p.E206E|CIT_uc001txj.1_Silent_p.E672E	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	672	Potential.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCTTCTCCAGCTCCCTCTCGG	0.582													T	120210640	C	T	120210640	2	4	23	1	0	0	0	0	0	0	0	1	3438	796	28	2		2	CIT	12	120210640	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	104516	120210640	13641255	1057	21651											
RNF10	9921	broad.mit.edu	37	chr12	120990439	120990439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggcagtggacatggtagCtggggaaagaggaacaagtg	18	4	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:120990439C>T	uc001typ.3	+	3	975	c.492C>T	c.(490-492)AGC>AGT	p.S164S	RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Silent_p.S70S	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	ring finger protein 10	164	Interaction with MEOX2.				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACATGGTAGCTGGGGAAAGA	0.473													T	120990439	C	T	120990439	2	4	23	1	0	0	0	0	0	0	0	1	13422	796	28	2		2	RNF10	12	120990439	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	779799	120990439	12861456	1058	21652											
ANAPC5	51433	broad.mit.edu	37	chr12	121765029	121765029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgggcctgttgcagtgccAtggtgctgggtggggagagg	20	7	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:121765029A>G	uc001uag.2	-	11	1432	c.1310T>C	c.(1309-1311)ATG>ACG	p.M437T	ANAPC5_uc010szu.1_Missense_Mutation_p.M103T|ANAPC5_uc001uae.2_Missense_Mutation_p.M1T|ANAPC5_uc010szv.1_Missense_Mutation_p.M39T|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Missense_Mutation_p.M325T|ANAPC5_uc001uai.1_Missense_Mutation_p.M39T	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	anaphase-promoting complex subunit 5 isoform a	437					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			skin(3)|breast(2)|kidney(1)	6	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTGCAGTGCCATGGTGCTGGG	0.582													G	121765029	A	G	121765029	3	3	23	1	0	0	0	0	1	0	0	0	605	217	8	3	985	3	ANAPC5	12	121765029	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	774590	121765029	12086866	1059	21653											
KDM2B	84678	broad.mit.edu	37	chr12	121880054	121880054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacacctccctgtgcatgaCgtgggctgccccatcgtcca	9	18	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:121880054C>T	uc001uat.2	-	19	3294	c.3190G>A	c.(3190-3192)GTC>ATC	p.V1064I	KDM2B_uc001uaq.2_Missense_Mutation_p.V504I|KDM2B_uc010szy.1_Missense_Mutation_p.V504I|KDM2B_uc001uar.2_Missense_Mutation_p.V655I|KDM2B_uc001uas.2_Missense_Mutation_p.V995I|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.V312I|KDM2B_uc010szx.1_Missense_Mutation_p.V312I|KDM2B_uc001uap.2_RNA	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	1064	F-box.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						CTGTGCATGACGTGGGCTGCC	0.652													T	121880054	C	T	121880054	3	4	23	1	0	0	0	0	1	0	0	0	8125	536	19	1	892	1	KDM2B	12	121880054	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	115025	121880054	11971841	1060	21654											
VPS33A	65082	broad.mit.edu	37	chr12	122751031	122751031	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaccacggacgcagtcaCgtgaccaaacgtccacgtga	12	13	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:122751031C>T	uc001ucd.2	-	1	38	c.-75G>A	c.(-77--73)ACGTG>ACATG		VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Translation_Start_Site	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33A						lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			skin(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GACGCAGTCACGTGACCAAAC	0.652													T	122751031	C	T	122751031	1	4	23	1	0	0	0	0	0	0	0	0	17198	551	19	1		1	VPS33A	12	122751031	Translation_Start_Site	SNP	C	TCGA-BR-4368-01A-01D-1158-08	870977	122751031	11100864	1061	21655											
CCDC62	84660	broad.mit.edu	37	chr12	123290732	123290732	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccaagattcccactctttgGgttcttcaaaatctgccttg	6	12	4	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:123290732G>T	uc001udc.2	+	10	1886	c.1741G>T	c.(1741-1743)GGT>TGT	p.G581C	CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Missense_Mutation_p.G581C|CCDC62_uc001ude.2_Missense_Mutation_p.G342C	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62 isoform b	581						cytoplasm|nucleus				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		CCACTCTTTGGGTTCTTCAAA	0.358													T	123290732	G	T	123290732	3	4	23	1	0	0	0	0	1	0	0	0	2833	1232	43	5	1779	5	CCDC62	12	123290732	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	539701	123290732	10561163	1062	21656											
DNAH10	196385	broad.mit.edu	37	chr12	124305198	124305198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtcaggaactggctaacGctgagaaacttttcgatctt	10	10	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:124305198G>A	uc001uft.3	+	23	3743	c.3718G>A	c.(3718-3720)GCT>ACT	p.A1240T		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1240	TPR 1.|Stem (By similarity).|Potential.				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACTGGCTAACGCTGAGAAACT	0.428													A	124305198	G	A	124305198	3	1	23	1	0	0	0	0	1	0	0	0	4598	1087	38	1	3808	1	DNAH10	12	124305198	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1014466	124305198	9546697	1063	21657											
BRI3BP	140707	broad.mit.edu	37	chr12	125497154	125497154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactgtggaaagtctggacCgagctcttggatgttcttgg	13	8	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:125497154C>T	uc001uha.1	+	2	431	c.288C>T	c.(286-288)ACC>ACT	p.T96T		NM_080626	NP_542193	Q8WY22	BRI3B_HUMAN	BRI3-binding protein	96						integral to membrane|mitochondrial outer membrane				ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		AAGTCTGGACCGAGCTCTTGG	0.483													T	125497154	C	T	125497154	2	4	23	1	0	0	0	0	0	0	0	1	1513	639	23	1		1	BRI3BP	12	125497154	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1191956	125497154	8354741	1064	21658											
GPR133	283383	broad.mit.edu	37	chr12	131593289	131593289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccctgccaagtgatggcCgtgctcctacactacttctt	7	16	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:131593289C>T	uc001uit.3	+	18	2467	c.1908C>T	c.(1906-1908)GCC>GCT	p.A636A	GPR133_uc010tbm.1_Silent_p.A668A|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Silent_p.A155A|GPR133_uc009zyp.2_RNA	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	636	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AAGTGATGGCCGTGCTCCTAC	0.577													T	131593289	C	T	131593289	2	4	23	1	0	0	0	0	0	0	0	1	6643	639	23	1		1	GPR133	12	131593289	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	6096135	131593289	2258606	1065	21659											
MMP17	4326	broad.mit.edu	37	chr12	132329951	132329951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctggacagcgtggacgcCgtgtacgagcgcaccagcga	14	14	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:132329951C>T	uc001ujc.1	+	8	1260	c.1161C>T	c.(1159-1161)GCC>GCT	p.A387A	MMP17_uc001ujd.1_Silent_p.A303A	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	387	Hemopexin-like 2.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		GCGTGGACGCCGTGTACGAGC	0.692													T	132329951	C	T	132329951	2	4	23	1	0	0	0	0	0	0	0	1	9656	639	23	1		1	MMP17	12	132329951	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	736662	132329951	1521944	1066	21660											
EP400	57634	broad.mit.edu	37	chr12	132547164	132547164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcagcaacagacgacgaCgacctctcaggtgcaagttc	11	13	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:132547164C>T	uc001ujn.2	+	46	8287	c.8252C>T	c.(8251-8253)ACG>ATG	p.T2751M	EP400_uc001ujl.2_Missense_Mutation_p.T2750M|EP400_uc001ujm.2_Missense_Mutation_p.T2670M|EP400_uc001ujp.2_Translation_Start_Site	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2787	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		cagACGACGACGACCTCTCAG	0.343													T	132547164	C	T	132547164	3	4	23	1	0	0	0	0	1	0	0	0	5149	536	19	1	8431	1	EP400	12	132547164	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	217213	132547164	1304731	1067	21661											
GOLGA3	2802	broad.mit.edu	37	chr12	133381582	133381582	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgagggcggccagctgggcCtgcagctcagccttctcttt	13	14	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:133381582C>A	uc001ukz.1	-	7	1876	c.1317G>T	c.(1315-1317)CAG>CAT	p.Q439H	GOLGA3_uc001ula.1_Missense_Mutation_p.Q439H|GOLGA3_uc001ulb.2_Missense_Mutation_p.Q439H	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	439	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CCAGCTGGGCCTGCAGCTCAG	0.557													A	133381582	C	A	133381582	3	1	23	1	0	0	0	0	1	0	0	0	6554	680	24	5	3389	5	GOLGA3	12	133381582	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	834418	133381582	470313	1068	21662											
GOLGA3	2802	broad.mit.edu	37	chr12	133385003	133385003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaccttaggcccccgagGgacactggtgcgcaggaagg	15	14	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:133385003G>A	uc001ukz.1	-	5	1211	c.652C>T	c.(652-654)CCT>TCT	p.P218S	GOLGA3_uc001ula.1_Missense_Mutation_p.P218S|GOLGA3_uc001ulb.2_Missense_Mutation_p.P218S	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	218	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GGCCCCCGAGGGACACTGGTG	0.517													A	133385003	G	A	133385003	3	1	23	1	0	0	0	0	1	0	0	0	6554	1232	43	4	4062	4	GOLGA3	12	133385003	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3421	133385003	466892	1069	21663											
PSPC1	55269	broad.mit.edu	37	chr13	20279895	20279895	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccattggtgggccaggtatAgttgctctgttgttcatatt	11	8	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:20279895A>G	uc001uml.2	-	8	1479	c.1293T>C	c.(1291-1293)ACT>ACC	p.T431T	PSPC1_uc001umj.1_Intron|PSPC1_uc001umk.1_Intron	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	paraspeckle protein 1	431	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)	1		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		GGCCAGGTATAGTTGCTCTGT	0.483													G	20279895	A	G	20279895	2	3	23	1	0	0	0	0	0	0	0	1	12716	407	15	3		3	PSPC1	13	20279895	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08		20279895	94889983	1070	21664											
LATS2	26524	broad.mit.edu	37	chr13	21563291	21563291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaggtagtccacgtacgGccgcggcatctcctccagcg	12	14	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:21563291G>A	uc009zzs.2	-	4	993	c.628C>T	c.(628-630)CCG>TCG	p.P210S	LATS2_uc001unr.3_Missense_Mutation_p.P210S	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	210					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TCCACGTACGGCCGCGGCATC	0.701													A	21563291	G	A	21563291	3	1	23	1	0	0	0	0	1	0	0	0	8647	1203	42	2	2658	2	LATS2	13	21563291	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1283396	21563291	93606587	1071	21665											
SACS	26278	broad.mit.edu	37	chr13	23911749	23911749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtaacacgaagaactcccGagaactcatcaactttttca	6	11	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:23911749G>A	uc001uon.2	-	10	6855	c.6266C>T	c.(6265-6267)TCG>TTG	p.S2089L	SACS_uc001uoo.2_Missense_Mutation_p.S1942L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2089					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGAACTCCCGAGAACTCATC	0.383													A	23911749	G	A	23911749	3	1	23	1	0	0	0	0	1	0	0	0	13804	1059	37	1	7477	1	SACS	13	23911749	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2348458	23911749	91258129	1072	21666											
CENPJ	55835	broad.mit.edu	37	chr13	25458604	25458604	+	Splice_Site	DEL	A	A	-													cttataaaccttttccacctAaaaaaccaacacaagattat							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:25458603_25458603TA>T	uc001upt.4	-	14	3731	c.3478_splice	c.e14-1	p.V1160_splice	CENPJ_uc010tdf.2_Splice_Site|CENPJ_uc010aaf.3_Splice_Site	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	1160					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTTTTCCACCTAAAAAACCAA	0.388													-	25458604	A	-	25458604	8	5	23	1	0	1	0	1	0	0	1	0	3234	377	13	0		0	CENPJ	13	25458604	Splice_Site	DEL	A	TCGA-BR-4368-01A-01D-1158-08	1546855	25458604	89711274	1073	21667											
CENPJ	55835	broad.mit.edu	37	chr13	25473679	25473679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaaactcttctattcgagCtaattcttttgctttctgtt	4	8	4	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:25473679C>T	uc001upt.3	-	9	3122	c.2869G>A	c.(2869-2871)GCT>ACT	p.A957T	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_5'UTR	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	957					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TCTATTCGAGCTAATTCTTTT	0.368													T	25473679	C	T	25473679	3	4	23	1	0	0	0	0	1	0	0	0	3234	797	28	2	1183	2	CENPJ	13	25473679	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	15075	25473679	89696199	1074	21668											
MTMR6	9107	broad.mit.edu	37	chr13	25828013	25828013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgaattcaaaggcttgtGgaaactgttcggtcaaatgc	10	8	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:25828013G>A	uc001uqf.3	-	11	1554	c.1235C>T	c.(1234-1236)CCA>CTA	p.P412L	MTMR6_uc001uqe.1_Missense_Mutation_p.P412L	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	412	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)|skin(2)	4		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		AAAGGCTTGTGGAAACTGTTC	0.438													A	25828013	G	A	25828013	3	1	23	1	0	0	0	0	1	0	0	0	9947	1348	47	4	646	4	MTMR6	13	25828013	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	354334	25828013	89341865	1075	21669											
USP12	219333	broad.mit.edu	37	chr13	27664254	27664254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgatgtattttgttccacGtcaacagaaaggtctaaaaa	7	6	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:27664254G>A	uc001uqy.2	-	5	868	c.615C>T	c.(613-615)GAC>GAT	p.D205D		NM_182488	NP_872294	O75317	UBP12_HUMAN	ubiquitin thiolesterase 12	205					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)	1		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TTTGTTCCACGTCAACAGAAA	0.269													A	27664254	G	A	27664254	2	1	23	1	0	0	0	0	0	0	0	1	17040	1136	40	1		1	USP12	13	27664254	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1836241	27664254	87505624	1076	21670											
CDX2	1045	broad.mit.edu	37	chr13	28537278	28537279	+	Frame_Shift_Ins	INS	-	-	C													gtgacggtggggtttagcacINSccccccagttggccccagaa					rs142861632		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:28537277_28537278A>AC	uc001urv.3	-	2	1090_1091	c.916_917T>GT	c.(916-918)gtgfs	p.V306fs		NM_001265	NP_001256	Q99626	CDX2_HUMAN	Homo sapiens caudal type homeobox 2 (CDX2), mRNA.	306					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GGGGTTTAGCACCCCCCCAGTT	0.629			T	ETV6	AML								C	28537279	-	C	28537278	7	5	23	1	0	1	1	0	0	0	0	0	3183	507	18	0	29	0	CDX2	13	28537278	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	873024	28537278	86632600	1077	21671											
SLC7A1	6541	broad.mit.edu	37	chr13	30097437	30097437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagggagcccacggccaCtgcgtacttggcaccttccc	12	16	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:30097437C>T	uc001uso.2	-	7	1402	c.1015G>A	c.(1015-1017)GTG>ATG	p.V339M		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	339	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCCACGGCCACTGCGTACTTG	0.622													T	30097437	C	T	30097437	3	4	23	1	0	0	0	0	1	0	0	0	14692	565	20	4	902	4	SLC7A1	13	30097437	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1560159	30097437	85072441	1078	21672											
BRCA2	675	broad.mit.edu	37	chr13	32913837	32913838	+	Frame_Shift_Ins	INS	-	-	A													ttgaagaatgttgaagatcaINSaaaaaacactagtttttcca					rs80358757		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:32913836_32913837C>CA	uc001uub.1	+	10	5571_5572	c.5344_5345C>CA	c.(5344-5346)caafs	p.Q1782fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1782					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding	p.N1784fs*7(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTTGAAGATCAAAAAAACACT	0.322			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			A	32913838	-	A	32913837	7	5	23	1	0	1	1	0	0	0	0	0	1499	130	5	0	5383	0	BRCA2	13	32913837	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	2816400	32913837	82256041	1079	21673											
PDS5B	23047	broad.mit.edu	37	chr13	33344568	33344568	+	Frame_Shift_Del	DEL	A	A	-													agccaacaatgaaaacttctAaaaaaggaagcaaaaaaaaa							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:33344567_33344567TA>T	uc010abf.3	+	31	4119	c.3933_3933TA>T	c.(3931-3933)tctfs	p.S1311fs	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	1311					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TGAAAACTTCTAAAAAAGGAA	0.423													-	33344568	A	-	33344568	7	5	23	1	0	1	0	1	0	0	0	0	11692	363	13	0	4056	0	PDS5B	13	33344568	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	430731	33344568	81825310	1080	21674											
STARD13	90627	broad.mit.edu	37	chr13	33704275	33704275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgctctcactgctggtcGtgttcctcatccccgtgcct	10	16	2	0	rs149234861	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:33704275G>A	uc001uuw.2	-	5	665	c.539C>T	c.(538-540)ACG>ATG	p.T180M	STARD13_uc001uuu.2_Missense_Mutation_p.T172M|STARD13_uc001uuv.2_Missense_Mutation_p.T62M|STARD13_uc001uux.2_Missense_Mutation_p.T145M|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.T165M	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	180					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		ACTGCTGGTCGTGTTCCTCAT	0.622													A	33704275	G	A	33704275	3	1	23	1	0	0	0	0	1	0	0	0	15255	1145	40	1	2842	1	STARD13	13	33704275	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	359707	33704275	81465603	1081	21675											
POSTN	10631	broad.mit.edu	37	chr13	38148746	38148746	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggctgaagactgccttcaatCactttaatttttggttccac	7	10	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:38148746C>T	uc001uwo.3	-	17	2170	c.2052G>A	c.(2050-2052)GTG>GTA	p.V684V	POSTN_uc010tet.1_Intron|POSTN_uc001uwp.3_Intron|POSTN_uc001uwr.2_Intron|POSTN_uc001uwq.2_Intron|POSTN_uc010teu.1_Intron|POSTN_uc010tev.1_Intron|POSTN_uc010tew.1_Intron	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	684					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGCCTTCAATCACTTTAATTT	0.289													T	38148746	C	T	38148746	2	4	23	1	0	0	0	0	0	0	0	1	12259	813	29	4		4	POSTN	13	38148746	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	4444471	38148746	77021132	1082	21676											
RB1	5925	broad.mit.edu	37	chr13	49030368	49030368	+	Frame_Shift_Del	DEL	A	A	-													ctcctgtaagatctccaaagAaaaaaggttcaactacgcgt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:49030367_49030367GA>G	uc001vcb.3	+	18	2008	c.1842_1842GA>G	c.(1840-1842)aagfs	p.K614fs		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	614	Pocket; binds T and E1A.|Spacer.				G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GATCTCCAAAGAAAAAAGGTT	0.378		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			-	49030368	A	-	49030368	7	5	23	1	0	1	0	1	0	0	0	0	13098	247	9	0	1917	0	RB1	13	49030368	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	10881622	49030368	66139510	1083	21677											
FNDC3A	22862	broad.mit.edu	37	chr13	49705409	49705409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtcccaactatgatgcCgcctccaccacgtcatatgt	6	16	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:49705409C>T	uc001vcm.2	+	5	694	c.389C>T	c.(388-390)CCG>CTG	p.P130L	FNDC3A_uc001vcl.1_Missense_Mutation_p.P130L|FNDC3A_uc001vcn.2_Missense_Mutation_p.P130L|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.P74L|FNDC3A_uc001vcq.2_Missense_Mutation_p.P74L	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	130	Pro-rich.					Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ACTATGATGCCGCCTCCACCA	0.507													T	49705409	C	T	49705409	3	4	23	1	0	0	0	0	1	0	0	0	5969	652	23	1	414	1	FNDC3A	13	49705409	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	675041	49705409	65464469	1084	21678											
UTP14C	9724	broad.mit.edu	37	chr13	52605100	52605100	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagctgactactcccaaggtCgtcaccaagccaggccatat	8	14	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:52605100C>T	uc001vgb.2	+	2	2695	c.2160C>T	c.(2158-2160)GTC>GTT	p.V720V	UTP14C_uc001vgc.2_RNA	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	720					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				ovary(3)|large_intestine(1)|breast(1)	5		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CTCCCAAGGTCGTCACCAAGC	0.502													T	52605100	C	T	52605100	2	4	23	1	0	0	0	0	0	0	0	1	17093	871	31	1		1	UTP14C	13	52605100	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2899691	52605100	62564778	1085	21679											
NEK5	341676	broad.mit.edu	37	chr13	52684545	52684545	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttcttgctaagaaaaatgTtctataaatggagaaaatgt	8	4	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:52684545T>C	uc001vge.2	-	7	538	c.398A>G	c.(397-399)AAC>AGC	p.N133S	NEK5_uc001vgf.2_Missense_Mutation_p.N133S	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	133	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)	1		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		AAGAAAAATGTTCTATAAATG	0.358													C	52684545	T	C	52684545	3	2	23	1	0	0	0	0	1	0	0	0	10327	1739	60	3	1792	3	NEK5	13	52684545	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	79445	52684545	62485333	1086	21680											
THSD1	55901	broad.mit.edu	37	chr13	52952361	52952361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgatccggaacttgtttgCtgcagcttcttccgggcttt	10	10	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:52952361C>T	uc001vgo.2	-	5	2289	c.1744G>A	c.(1744-1746)GCA>ACA	p.A582T	THSD1_uc001vgp.2_Missense_Mutation_p.A529T|THSD1_uc010tgz.1_Missense_Mutation_p.A203T|THSD1_uc010aea.2_Missense_Mutation_p.A43T	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	582	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		AACTTGTTTGCTGCAGCTTCT	0.572													T	52952361	C	T	52952361	3	4	23	1	0	0	0	0	1	0	0	0	15874	797	28	2	818	2	THSD1	13	52952361	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	267816	52952361	62217517	1087	21681											
THSD1	55901	broad.mit.edu	37	chr13	52952664	52952664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgtgggcccgtctccccCatccgagaagctcccgcgct	10	21	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:52952664C>T	uc001vgo.2	-	5	1986	c.1441G>A	c.(1441-1443)GGG>AGG	p.G481R	THSD1_uc001vgp.2_Missense_Mutation_p.G428R|THSD1_uc010tgz.1_Missense_Mutation_p.G102R|THSD1_uc010aea.2_5'UTR	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	481	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CCGTCTCCCCCATCCGAGAAG	0.652													T	52952664	C	T	52952664	3	4	23	1	0	0	0	0	1	0	0	0	15874	594	21	4	1121	4	THSD1	13	52952664	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	303	52952664	62217214	1088	21682											
PCDH8	5100	broad.mit.edu	37	chr13	53422421	53422421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactttcatatgcaggtcctCggccagggtcccgatgaccg	11	13	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:53422421C>T	uc001vhi.2	-	1	354	c.151G>A	c.(151-153)GAG>AAG	p.E51K	PCDH8_uc001vhj.2_Missense_Mutation_p.E51K	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	51	Extracellular (Potential).|Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TGCAGGTCCTCGGCCAGGGTC	0.607													T	53422421	C	T	53422421	3	4	23	1	0	0	0	0	1	0	0	0	11517	893	31	1	3073	1	PCDH8	13	53422421	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	469757	53422421	61747457	1089	21683											
PCDH17	27253	broad.mit.edu	37	chr13	58207121	58207121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcggagaacgctgctccGggcacccgcttccccctcac	9	19	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:58207121G>A	uc001vhq.1	+	1	1333	c.441G>A	c.(439-441)CCG>CCA	p.P147P	PCDH17_uc010aec.1_Silent_p.P147P	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	147	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACGCTGCTCCGGGCACCCGCT	0.617													A	58207121	G	A	58207121	2	1	23	1	0	0	0	0	0	0	0	1	11512	1103	39	1		1	PCDH17	13	58207121	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	4784700	58207121	56962757	1090	21684											
PCDH17	27253	broad.mit.edu	37	chr13	58208648	58208648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttctgggaggacgtgacGcccgtggtggagctggtggt	18	9	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:58208648G>A	uc001vhq.1	+	1	2860	c.1968G>A	c.(1966-1968)ACG>ACA	p.T656T	PCDH17_uc010aec.1_Silent_p.T656T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	656	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGGACGTGACGCCCGTGGTGG	0.642													A	58208648	G	A	58208648	2	1	23	1	0	0	0	0	0	0	0	1	11512	1074	38	1		1	PCDH17	13	58208648	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1527	58208648	56961230	1091	21685											
PCDH20	64881	broad.mit.edu	37	chr13	61987429	61987429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaattaggtagggggtgCgctccccattctcattctcc	10	12	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:61987429C>T	uc001vid.3	-	2	1167	c.803G>A	c.(802-804)CGC>CAC	p.R268H	PCDH20_uc010thj.1_Missense_Mutation_p.R268H	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	241	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTAGGGGGTGCGCTCCCCATT	0.522													T	61987429	C	T	61987429	3	4	23	1	0	0	0	0	1	0	0	0	11515	768	27	1	2056	1	PCDH20	13	61987429	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3778781	61987429	53182449	1092	21686											
PCDH9	5101	broad.mit.edu	37	chr13	67477738	67477738	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttgctgtgtgagttacaCtgaaagagattaccaaataa	8	6	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:67477738C>T	uc001vik.2	-	3	3729	c.3037_splice	c.e3-1	p.C1013_splice	PCDH9_uc010aei.2_Splice_Site|PCDH9_uc001vil.2_Intron|PCDH9_uc010thl.1_Splice_Site_p.C1013_splice	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTGAGTTACACTGAAAGAGAT	0.413													T	67477738	C	T	67477738	5	4	23	1	0	0	0	0	0	0	1	0	11518	579	20	4	689	4	PCDH9	13	67477738	Splice_Site	SNP	C	TCGA-BR-4368-01A-01D-1158-08	5490309	67477738	47692140	1093	21687											
PCDH9	5101	broad.mit.edu	37	chr13	67801412	67801412	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgtccttatctgaaacTgtaattagggcaatctttgt	8	7	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:67801412T>G	uc001vik.2	-	2	1853	c.1161A>C	c.(1159-1161)ACA>ACC	p.T387T	PCDH9_uc001vil.2_Silent_p.T387T|PCDH9_uc010thl.1_Silent_p.T387T|PCDH9_uc001vin.3_Silent_p.T387T	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	387	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TATCTGAAACTGTAATTAGGG	0.378													G	67801412	T	G	67801412	2	3	23	1	0	0	0	0	0	0	0	1	11518	1567	55	5		5	PCDH9	13	67801412	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	323674	67801412	47368466	1094	21688											
LMO7	4008	broad.mit.edu	37	chr13	76432062	76432062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttgcccgatcagctggaCggccaaccgccatgtgatgt	11	14	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:76432062C>T	uc001vjv.2	+	27	4831	c.4071C>T	c.(4069-4071)GAC>GAT	p.D1357D	LMO7_uc010thv.1_Missense_Mutation_p.R1345W|LMO7_uc010thw.1_Missense_Mutation_p.R1271W|LMO7_uc001vjx.1_RNA	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	Error:Variant_position_missing_in_Q8WWI1_after_alignment						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATCAGCTGGACGGCCAACCGC	0.438													T	76432062	C	T	76432062	2	4	23	1	0	0	0	0	0	0	0	1	8855	536	19	1		1	LMO7	13	76432062	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	8630650	76432062	38737816	1095	21689											
UGGT2	55757	broad.mit.edu	37	chr13	96601605	96601605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccaaattatgaaaattgCgccttatggaaggtacactt	7	8	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:96601605C>T	uc001vmt.2	-	13	1609	c.1439G>A	c.(1438-1440)CGC>CAC	p.R480H		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	480					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3						ATGAAAATTGCGCCTTATGGA	0.274													T	96601605	C	T	96601605	3	4	23	1	0	0	0	0	1	0	0	0	16939	768	27	1	3219	1	UGGT2	13	96601605	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	20169543	96601605	18568273	1096	21690											
IPO5	3843	broad.mit.edu	37	chr13	98671871	98671871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtaagagttattcagtctgCggattctaagaccaaagaaa	10	6	3	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:98671871C>T	uc001vne.2	+	27	3107	c.2927C>T	c.(2926-2928)GCG>GTG	p.A976V		NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	958	HEAT 6.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						ATTCAGTCTGCGGATTCTAAG	0.383													T	98671871	C	T	98671871	3	4	23	1	0	0	0	0	1	0	0	0	7796	768	27	1	3025	1	IPO5	13	98671871	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2070266	98671871	16498007	1097	21691											
TMTC4	84899	broad.mit.edu	37	chr13	101287385	101287385	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgaccacgaagcccactcGgaagaacaggttactcgcgg	12	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:101287385G>A	uc001vou.2	-	10	1370	c.1210C>T	c.(1210-1212)CGA>TGA	p.R404*	TMTC4_uc001vot.2_Nonsense_Mutation_p.R423*|TMTC4_uc010tja.1_Nonsense_Mutation_p.R293*|TMTC4_uc001vov.1_Nonsense_Mutation_p.R149*|TMTC4_uc001vow.1_Nonsense_Mutation_p.R187*	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	404						integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AAGCCCACTCGGAAGAACAGG	0.498													A	101287385	G	A	101287385	4	1	23	1	0	0	0	0	0	1	0	0	16260	1124	39	1	1051	1	TMTC4	13	101287385	Nonsense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2615514	101287385	13882493	1098	21692											
ITGBL1	9358	broad.mit.edu	37	chr13	102250558	102250558	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaagcaggctggtatgggaaGaagtgtgagcacccacagtc	14	8	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:102250558G>T	uc001vpb.2	+	7	1143	c.924G>T	c.(922-924)AAG>AAT	p.K308N	ITGBL1_uc010agb.2_Missense_Mutation_p.K259N|ITGBL1_uc001vpc.3_Missense_Mutation_p.K167N	NM_004791	NP_004782	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat	308	VI.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			ovary(1)|skin(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGTATGGGAAGAAGTGTGAGC	0.498													T	102250558	G	T	102250558	3	4	23	1	0	0	0	0	1	0	0	0	7902	933	33	5	950	5	ITGBL1	13	102250558	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	963173	102250558	12919320	1099	21693											
ERCC5	2073	broad.mit.edu	37	chr13	103518646	103518646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggagagcaacctcttagCacagcagaattcactgaaag	9	10	3	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:103518646C>T	uc001vpw.2	+	10	2677	c.2234C>T	c.(2233-2235)GCA>GTA	p.A745V	ERCC5_uc001vpu.1_Missense_Mutation_p.A1199V|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.A577V	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	745					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AACCTCTTAGCACAGCAGAAT	0.413			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				T	103518646	C	T	103518646	3	4	23	1	0	0	0	0	1	0	0	0	5216	710	25	2	2272	2	ERCC5	13	103518646	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1268088	103518646	11651232	1100	21694											
EFNB2	1948	broad.mit.edu	37	chr13	107164918	107164918	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttctgaaattctagacccCagaggttagggctgaattct	9	9	4	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:107164918C>A	uc001vqi.2	-	2	390	c.365G>T	c.(364-366)TGG>TTG	p.W122L		NM_004093	NP_004084	P52799	EFNB2_HUMAN	ephrin B2 precursor	122	Extracellular (Potential).			LW->YM: Complete loss of Nipah protein G binding.	cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			ovary(1)	1	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TTCTAGACCCCAGAGGTTAGG	0.313													A	107164918	C	A	107164918	3	1	23	1	0	0	0	0	1	0	0	0	4956	595	21	5	652	5	EFNB2	13	107164918	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3646272	107164918	8004960	1101	21695											
COL4A1	1282	broad.mit.edu	37	chr13	110838886	110838886	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggggggccacgctctcctttCaatcctacagaaccctgatg	10	14	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:110838886C>T	uc001vqw.3	-	26	1865	c.1743G>A	c.(1741-1743)TTG>TTA	p.L581L	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	581	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCTCTCCTTTCAATCCTACAG	0.542													T	110838886	C	T	110838886	2	4	23	1	0	0	0	0	0	0	0	1	3689	825	29	4		4	COL4A1	13	110838886	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3673968	110838886	4330992	1102	21696											
ING1	3621	broad.mit.edu	37	chr13	111371924	111371924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacgagaaccgtgagaacgCgtccagcaaccacgaccacg	10	15	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:111371924C>T	uc001vri.2	+	2	1346	c.914C>T	c.(913-915)GCG>GTG	p.A305V	ING1_uc001vrf.2_Missense_Mutation_p.A118V|ING1_uc001vrg.2_Missense_Mutation_p.A93V|ING1_uc001vrh.2_Missense_Mutation_p.A162V	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1 isoform D	305					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			ovary(1)	1	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CGTGAGAACGCGTCCAGCAAC	0.657													T	111371924	C	T	111371924	3	4	23	1	0	0	0	0	1	0	0	0	7735	768	27	1	1068	1	ING1	13	111371924	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	533038	111371924	3797954	1103	21697											
ARHGEF7	8874	broad.mit.edu	37	chr13	111932912	111932912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gattgagcggatattagtgtCgtgcaacaaccagcaggatc	12	8	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:111932912C>T	uc001vrs.2	+	16	1926	c.1676C>T	c.(1675-1677)TCG>TTG	p.S559L	ARHGEF7_uc001vrr.2_Missense_Mutation_p.S538L|ARHGEF7_uc001vrt.2_Missense_Mutation_p.S509L|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Missense_Mutation_p.S381L|ARHGEF7_uc001vrv.3_Missense_Mutation_p.S381L|ARHGEF7_uc001vrw.3_Missense_Mutation_p.S381L|ARHGEF7_uc001vrx.3_Missense_Mutation_p.S381L|ARHGEF7_uc010tjo.1_Missense_Mutation_p.S456L|ARHGEF7_uc010tjp.1_Missense_Mutation_p.S303L|ARHGEF7_uc001vry.1_5'Flank	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	559	PH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ATATTAGTGTCGTGCAACAAC	0.507													T	111932912	C	T	111932912	3	4	23	1	0	0	0	0	1	0	0	0	911	893	31	1	1738	1	ARHGEF7	13	111932912	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	560988	111932912	3236966	1104	21698											
SOX1	6656	broad.mit.edu	37	chr13	112722343	112722343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacaagtaccggccgcgccGcaagaccaagacgctgctca	10	15	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:112722343G>A	uc001vsb.1	+	1	431	c.371G>A	c.(370-372)CGC>CAC	p.R124H		NM_005986	NP_005977	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	124					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		CGGCCGCGCCGCAAGACCAAG	0.493													A	112722343	G	A	112722343	3	1	23	1	0	0	0	0	1	0	0	0	14940	1087	38	1	373	1	SOX1	13	112722343	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	789431	112722343	2447535	1105	21699											
F7	2155	broad.mit.edu	37	chr13	113768274	113768274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggccggaactgtgagacgCgtaaggccccactttgggtc	15	11	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:113768274C>T	uc001vsv.2	+	5	481	c.430C>T	c.(430-432)CAC>TAC	p.H144Y	F7_uc010agp.1_Missense_Mutation_p.H137Y|F7_uc001vsw.2_Missense_Mutation_p.H122Y|F7_uc010tjt.1_Missense_Mutation_p.H75Y	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	144					anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CTGTGAGACGCGTAAGGCCCC	0.632													T	113768274	C	T	113768274	3	4	23	1	0	0	0	0	1	0	0	0	5349	782	27	1	448	1	F7	13	113768274	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1045931	113768274	1401604	1106	21700											
TMCO3	55002	broad.mit.edu	37	chr13	114193765	114193765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggtcaccgaggagatcGccacctccatcgaacccatc	9	17	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:114193765G>A	uc001vtu.3	+	10	1994	c.1633G>A	c.(1633-1635)GCC>ACC	p.A545T		NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	545						integral to membrane	solute:hydrogen antiporter activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CGAGGAGATCGCCACCTCCAT	0.557													A	114193765	G	A	114193765	3	1	23	1	0	0	0	0	1	0	0	0	15994	1087	38	1	1667	1	TMCO3	13	114193765	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	425491	114193765	976113	1107	21701											
GAS6	2621	broad.mit.edu	37	chr13	114523858	114523858	+	Frame_Shift_Del	DEL	G	G	-													taggctgcggcgggctccacGggggggcaggagtgggccgt					rs77565607		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:114523857_114523857CG>C	uc001vug.3	-	6	2172	c.1120_1120CG>G	c.(1120-1122)gtgfs	p.V374fs	GAS6_uc001vud.3_Frame_Shift_Del_p.V673fs|GAS6_uc001vuf.3_Frame_Shift_Del_p.V400fs	NM_001143946	NP_001137418	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 3, mRNA.	716	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GCGGGCTCCACGGGGGGGCAG	0.706													-	114523858	G	-	114523858	7	5	23	1	0	1	0	1	0	0	0	0	6249	1103	39	0	24	0	GAS6	13	114523858	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	330093	114523858	646020	1108	21702											
OR4K15	81127	broad.mit.edu	37	chr14	20444458	20444458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaagcatggcgaaggccCgctccacattgactgctcac	10	15	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:20444458C>T	uc010tkx.1	+	1	781	c.781C>T	c.(781-783)CGC>TGC	p.R261C		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	261	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCGAAGGCCCGCTCCACATT	0.458													T	20444458	C	T	20444458	3	4	23	1	0	0	0	0	1	0	0	0	11070	652	23	1	783	1	OR4K15	14	20444458	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08		20444458	86905082	1109	21703											
MMP14	4323	broad.mit.edu	37	chr14	23315098	23315098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgaggtggacgaggagggCggcggggcggtgagcgcggc	24	7	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:23315098C>T	uc001whc.2	+	10	1833	c.1599C>T	c.(1597-1599)GGC>GGT	p.G533G		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	533	Extracellular (Potential).					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		ACGAGGAGGGCGGCGGGGCGG	0.682													T	23315098	C	T	23315098	2	4	23	1	0	0	0	0	0	0	0	1	9653	755	27	1		1	MMP14	14	23315098	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2870640	23315098	84034442	1110	21704											
HOMEZ	57594	broad.mit.edu	37	chr14	23745847	23745848	+	Frame_Shift_Del	DEL	CT	CT	-													actcctttaatttctggtgaCtctgtggcagtggtggcatc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:23745846_23745847ACT>A	uc001wja.2	-	1	738_739	c.590_591AGT>T	c.(589-591)agtfs	p.S197fs	HOMEZ_uc001wjb.2_Frame_Shift_Del_p.S199fs	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	Homo sapiens homeobox and leucine zipper encoding (HOMEZ), mRNA.	197						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ATTTCTGGTGACTCTGTGGCAG	0.505													-	23745848	CT	-	23745847	7	5	23	1	0	1	0	1	0	0	0	0	7281	565	20	0	1066	0	HOMEZ	14	23745847	Frame_Shift_Del	DEL	CT	TCGA-BR-4368-01A-01D-1158-08	430749	23745847	83603693	1111	21705											
JPH4	84502	broad.mit.edu	37	chr14	24045135	24045135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccactcgccctcgtagcGcagcccgttggagcgctggc	13	17	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:24045135G>A	uc001wkq.2	-	4	1828	c.910C>T	c.(910-912)CGC>TGC	p.R304C	JPH4_uc010tnr.1_5'Flank|JPH4_uc001wkr.2_Missense_Mutation_p.R304C|JPH4_uc001wks.2_Missense_Mutation_p.R304C	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	junctophilin 4	304	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				ovary(1)|pancreas(1)	2	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCCTCGTAGCGCAGCCCGTTG	0.701													A	24045135	G	A	24045135	3	1	23	1	0	0	0	0	1	0	0	0	7963	1087	38	1	992	1	JPH4	14	24045135	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	299288	24045135	83304405	1112	21706											
DCAF11	80344	broad.mit.edu	37	chr14	24589026	24589026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaaagtgtgggatcgacGcaccatgcgggaggatgacc	15	10	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:24589026G>A	uc001wlv.2	+	11	1293	c.1013G>A	c.(1012-1014)CGC>CAC	p.R338H	DCAF11_uc001wlw.2_Missense_Mutation_p.R338H|DCAF11_uc001wlz.2_Missense_Mutation_p.R238H|DCAF11_uc001wly.2_Missense_Mutation_p.R294H|DCAF11_uc001wme.2_Missense_Mutation_p.R298H|DCAF11_uc010tny.1_Missense_Mutation_p.R205H|DCAF11_uc001wmd.2_Missense_Mutation_p.R338H|DCAF11_uc001wmc.2_Missense_Mutation_p.R238H|DCAF11_uc001wmb.3_Missense_Mutation_p.R312H|DCAF11_uc001wma.3_Missense_Mutation_p.R338H	NM_001163484	NP_001156956	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11 isoform 1	338	WD 4.					CUL4 RING ubiquitin ligase complex	protein binding				0						TGGGATCGACGCACCATGCGG	0.552													A	24589026	G	A	24589026	3	1	23	1	0	0	0	0	1	0	0	0	4262	1087	38	1	1051	1	DCAF11	14	24589026	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	543891	24589026	82760514	1113	21707											
ADCY4	196883	broad.mit.edu	37	chr14	24802094	24802094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggacaggggacgcgtccagCgctgcagtcgctgctcccgg	16	15	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:24802094C>T	uc001wov.2	-	2	266	c.260G>A	c.(259-261)CGC>CAC	p.R87H	ADCY4_uc001wow.2_Missense_Mutation_p.R87H|ADCY4_uc010toh.1_5'UTR|ADCY4_uc001wox.2_Missense_Mutation_p.R87H|ADCY4_uc001woy.2_Missense_Mutation_p.R87H|ADCY4_uc001woz.3_Missense_Mutation_p.R87H	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	87					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		ACGCGTCCAGCGCTGCAGTCG	0.697											OREG0022624	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	24802094	C	T	24802094	3	4	23	1	0	0	0	0	1	0	0	0	296	768	27	1	3069	1	ADCY4	14	24802094	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	213068	24802094	82547446	1114	21708											
NFATC4	4776	broad.mit.edu	37	chr14	24842495	24842495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcacaggcaagatggtggCcacggccagctatgaagccg	13	11	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:24842495C>T	uc001wpc.2	+	4	1799	c.1478C>T	c.(1477-1479)GCC>GTC	p.A493V	NFATC4_uc010tok.1_Missense_Mutation_p.A556V|NFATC4_uc010tol.1_Missense_Mutation_p.A556V|NFATC4_uc010alr.2_Missense_Mutation_p.A556V|NFATC4_uc010als.2_Missense_Mutation_p.A506V|NFATC4_uc010tom.1_Missense_Mutation_p.A506V|NFATC4_uc010ton.1_Missense_Mutation_p.A506V|NFATC4_uc010too.1_Missense_Mutation_p.A506V|NFATC4_uc010alt.2_Missense_Mutation_p.A525V|NFATC4_uc010top.1_Missense_Mutation_p.A525V|NFATC4_uc010toq.1_Missense_Mutation_p.A525V|NFATC4_uc010alu.2_Missense_Mutation_p.A185V|NFATC4_uc010tor.1_Missense_Mutation_p.A493V|NFATC4_uc010tos.1_Missense_Mutation_p.A423V|NFATC4_uc010tot.1_Missense_Mutation_p.A481V|NFATC4_uc010tou.1_Missense_Mutation_p.A423V|NFATC4_uc010tov.1_Missense_Mutation_p.A481V|NFATC4_uc010tow.1_Missense_Mutation_p.A423V|NFATC4_uc010alv.2_Missense_Mutation_p.A481V|NFATC4_uc010tox.1_Missense_Mutation_p.A423V|NFATC4_uc001wpd.2_Missense_Mutation_p.A28V|NFATC4_uc010toy.1_Missense_Mutation_p.A28V|NFATC4_uc010toz.1_Missense_Mutation_p.A28V|NFATC4_uc010tpa.1_5'Flank|NFATC4_uc010tpb.1_5'Flank	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	493	RHD.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		AAGATGGTGGCCACGGCCAGC	0.547													T	24842495	C	T	24842495	3	4	23	1	0	0	0	0	1	0	0	0	10365	739	26	2	1685	2	NFATC4	14	24842495	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	40401	24842495	82507045	1115	21709											
FOXG1	2290	broad.mit.edu	37	chr14	29237000	29237000	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggggaggggggcaaggaggGcgagaagaagaacggcaagt	22	5	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:29237000G>C	uc001wqe.2	+	1	714	c.515G>C	c.(514-516)GGC>GCC	p.G172A		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	172	Gly-rich.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		ggcaaggagggcgagaagaag	0.323													C	29237000	G	C	29237000	3	2	23	1	0	0	0	0	1	0	0	0	6007	1203	42	5	517	5	FOXG1	14	29237000	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	4394505	29237000	78112540	1116	21710											
HECTD1	25831	broad.mit.edu	37	chr14	31582679	31582679	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccagactttgttccatgCtcacaaaaatcctatagaaa	4	11	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:31582679C>T	uc001wrc.1	-	33	6357	c.5868G>A	c.(5866-5868)GAG>GAA	p.E1956E	HECTD1_uc001wra.1_Silent_p.E82E|HECTD1_uc001wrb.1_Silent_p.E82E|HECTD1_uc001wrd.1_Silent_p.E1424E	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1956					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTGTTCCATGCTCACAAAAAT	0.363													T	31582679	C	T	31582679	2	4	23	1	0	0	0	0	0	0	0	1	7039	796	28	2		2	HECTD1	14	31582679	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2345679	31582679	75766861	1117	21711											
SRP54	6729	broad.mit.edu	37	chr14	35498275	35498275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttgctctaggtggtatgGcaggacttcagtcaatgatg	12	7	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:35498275G>A	uc001wso.2	+	16	1783	c.1432G>A	c.(1432-1434)GCA>ACA	p.A478T	SRP54_uc010tpp.1_Missense_Mutation_p.A429T|SRP54_uc010tpq.1_Missense_Mutation_p.A414T	NM_003136	NP_003127	P61011	SRP54_HUMAN	signal recognition particle 54kDa isoform 1	478	M-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			ovary(1)	1	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		AGGTGGTATGGCAGGACTTCA	0.363													A	35498275	G	A	35498275	3	1	23	1	0	0	0	0	1	0	0	0	15154	1203	42	2	1490	2	SRP54	14	35498275	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3915596	35498275	71851265	1118	21712											
SSTR1	6751	broad.mit.edu	37	chr14	38679662	38679662	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggttgactattacgccacCgcgctcaagagccgtgccta	10	15	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:38679662C>T	uc001wul.1	+	3	1685	c.1068C>T	c.(1066-1068)ACC>ACT	p.T356T	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	356	Cytoplasmic (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			central_nervous_system(3)|ovary(1)|lung(1)	5	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	ATTACGCCACCGCGCTCAAGA	0.582													T	38679662	C	T	38679662	2	4	23	1	0	0	0	0	0	0	0	1	15196	639	23	1		1	SSTR1	14	38679662	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3181387	38679662	68669878	1119	21713											
SEC23A	10484	broad.mit.edu	37	chr14	39508238	39508238	+	Frame_Shift_Del	DEL	C	C	-													ctgctatttaaacttacctgCccccaggcatacatattatt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:39508237_39508237GC>G	uc001wup.1	-	18	2429	c.2206_2206GC>C	c.(2206-2208)cagfs	p.Q736fs	SEC23A_uc010tqa.1_Frame_Shift_Del_p.Q622fs|SEC23A_uc010tqb.1_Frame_Shift_Del_p.Q707fs	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA.	736					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AAACTTACCTGCCCCCAGGCA	0.318													-	39508238	C	-	39508238	7	5	23	1	0	1	0	1	0	0	0	0	13991	726	26	0	100	0	SEC23A	14	39508238	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	828576	39508238	67841302	1120	21714											
LRFN5	145581	broad.mit.edu	37	chr14	42356185	42356185	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaattacaaatgatatgttCagtggtctttccaatcttca	5	7	4	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:42356185C>T	uc001wvm.2	+	3	1555	c.357C>T	c.(355-357)TTC>TTT	p.F119F	LRFN5_uc010ana.2_Silent_p.F119F	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	119	Extracellular (Potential).|LRR 3.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ATGATATGTTCAGTGGTCTTT	0.378										HNSCC(30;0.082)			T	42356185	C	T	42356185	2	4	23	1	0	0	0	0	0	0	0	1	8941	825	29	4		4	LRFN5	14	42356185	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2847947	42356185	64993355	1121	21715											
C14orf28	122525	broad.mit.edu	37	chr14	45370058	45370059	+	Frame_Shift_Ins	INS	-	-	A													atgagcatgataattttacaINSaaaaatcttgaaaatctcat							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:45370057_45370058C>CA	uc001wvo.3	+	1	685_686	c.419_420C>CA	c.(418-420)acafs	p.T140fs	C14orf28_uc001wvp.1_Frame_Shift_Ins_p.T140fs	NM_001017923	NP_001017923	Q4W4Y0	CN028_HUMAN	Homo sapiens chromosome 14 open reading frame 28 (C14orf28), mRNA.	140										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						GATAATTTTACAAAAAATCTTG	0.371													A	45370059	-	A	45370058	7	5	23	1	0	1	1	0	0	0	0	0	1770	117	5	0	422	0	C14orf28	14	45370058	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	3013873	45370058	61979482	1122	21716											
FAM179B	23116	broad.mit.edu	37	chr14	45542625	45542625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagctggaggaaatatacGaacagccacagctaaattat	10	7	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:45542625G>A	uc001wvv.2	+	19	5233	c.5024G>A	c.(5023-5025)CGA>CAA	p.R1675Q	FAM179B_uc001wvw.2_Missense_Mutation_p.R1728Q|FAM179B_uc010anc.2_RNA	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	1675							binding			skin(2)|upper_aerodigestive_tract(1)	3						GGAAATATACGAACAGCCACA	0.428													A	45542625	G	A	45542625	3	1	23	1	0	0	0	0	1	0	0	0	5506	1058	37	1	5098	1	FAM179B	14	45542625	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	172567	45542625	61806915	1123	21717											
SAV1	60485	broad.mit.edu	37	chr14	51111571	51111571	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggaggaagtccttctcGctcaagaggatggctccagt	12	11	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:51111571G>A	uc001wyg.1	-	4	858	c.697C>T	c.(697-699)CGA>TGA	p.R233*	SAV1_uc001wyh.1_Nonsense_Mutation_p.R233*	NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	WW45 protein	233					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)	1	all_epithelial(31;0.000611)|Breast(41;0.0333)					AGTCCTTCTCGCTCAAGAGGA	0.458													A	51111571	G	A	51111571	4	1	23	1	0	0	0	0	0	1	0	0	13856	1095	38	1	466	1	SAV1	14	51111571	Nonsense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	5568946	51111571	56237969	1124	21718											
DDHD1	80821	broad.mit.edu	37	chr14	53522429	53522429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattctccatagtgtcggcGggacaaaactggtgaggtca	13	8	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:53522429G>A	uc001xai.2	-	10	2424	c.2194C>T	c.(2194-2196)CGC>TGC	p.R732C	DDHD1_uc001xaj.2_Missense_Mutation_p.R739C|DDHD1_uc001xah.2_Missense_Mutation_p.R732C|DDHD1_uc001xag.2_Missense_Mutation_p.R314C|DDHD1_uc001xak.1_Missense_Mutation_p.R128C	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	732	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)					TAGTGTCGGCGGGACAAAACT	0.408													A	53522429	G	A	53522429	3	1	23	1	0	0	0	0	1	0	0	0	4326	1116	39	1	524	1	DDHD1	14	53522429	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2410858	53522429	53827111	1125	21719											
KTN1	3895	broad.mit.edu	37	chr14	56137475	56137475	+	Frame_Shift_Del	DEL	A	A	-													tgaatggttgcatggatttgAaaaaaaggcaaaagaatgta							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:56137474_56137474GA>G	uc001xcb.3	+	35	3597	c.3295_3295GA>G	c.(3295-3297)gaafs	p.E1099fs	KTN1_uc001xcc.3_Frame_Shift_Del_p.E1099fs|KTN1_uc001xcd.3_Frame_Shift_Del_p.E1076fs|KTN1_uc001xce.3_Frame_Shift_Del_p.E1070fs|KTN1_uc010trb.2_Frame_Shift_Del_p.E1099fs|KTN1_uc001xcf.1_Frame_Shift_Del_p.E1076fs|KTN1_uc010aoq.3_Frame_Shift_Del_p.E365fs|KTN1_uc010trc.2_Frame_Shift_Del_p.E104fs|KTN1_uc001xcg.3_Frame_Shift_Del_p.E60fs	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.	1099					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GCATGGATTTGAAAAAAAGGC	0.318			T	RET	papillary thryoid								-	56137475	A	-	56137475	7	5	23	1	0	1	0	1	0	0	0	0	8585	246	9	0	3430	0	KTN1	14	56137475	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	2615046	56137475	51212065	1126	21720											
OTX2	5015	broad.mit.edu	37	chr14	57271049	57271049	+	Frame_Shift_Del	DEL	G	G	-													cctctcccggcgctgtttccGgggggtggctgcgggacaag							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:57271048_57271048CG>C	uc001xcq.3	-	3	405	c.131_131CG>G	c.(130-132)cggfs	p.R44fs	OTX2_uc001xcp.3_Frame_Shift_Del_p.R36fs|OTX2_uc021rtm.1_Intron|OTX2_uc010aou.3_Frame_Shift_Del_p.R36fs	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	36					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding	p.R44fs*52(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GCGCTGTTTCCGGGGGGTGGC	0.632													-	57271049	G	-	57271049	7	5	23	1	0	1	0	1	0	0	0	0	11321	1115	39	0	771	0	OTX2	14	57271049	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	1133574	57271049	50078491	1127	21721											
RTN1	6252	broad.mit.edu	37	chr14	60063471	60063471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaaatcagtttactcagCatgcctcttagcgcctggga	11	10	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:60063471C>T	uc001xen.1	-	9	2532	c.2323G>A	c.(2323-2325)GCT>ACT	p.A775T	RTN1_uc001xem.1_Missense_Mutation_p.A355T|RTN1_uc001xek.1_Missense_Mutation_p.A207T|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Missense_Mutation_p.A192T	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	775	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GTTTACTCAGCATGCCTCTTA	0.393													T	60063471	C	T	60063471	3	4	23	1	0	0	0	0	1	0	0	0	13725	710	25	2	11	2	RTN1	14	60063471	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2792422	60063471	47286069	1128	21722											
TRMT5	57570	broad.mit.edu	37	chr14	61446285	61446285	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgccctttttagggatcGcatcaatttactgactattt	7	9	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:61446285G>A	uc001xff.3	-	2	422	c.331C>T	c.(331-333)CGA>TGA	p.R111*	SLC38A6_uc001xfg.1_5'Flank|SLC38A6_uc001xfh.1_5'Flank|SLC38A6_uc001xfi.2_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.2_5'Flank|SLC38A6_uc010trz.1_5'Flank	NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	111						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			central_nervous_system(2)|large_intestine(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TTTAGGGATCGCATCAATTTA	0.403													A	61446285	G	A	61446285	4	1	23	1	0	0	0	0	0	1	0	0	16564	1095	38	1	1214	1	TRMT5	14	61446285	Nonsense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1382814	61446285	45903255	1129	21723											
KCNH5	27133	broad.mit.edu	37	chr14	63174303	63174303	+	Frame_Shift_Del	DEL	G	G	-													aatatcctgacatggtatctGggggggtacttggagtggca					rs35940222		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:63174302_63174302TG>T	uc001xfx.3	-	10	2942	c.2891_2891CA>A	c.(2890-2892)cagfs	p.Q964fs	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	964					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTAC	0.388													-	63174303	G	-	63174303	7	5	23	1	0	1	0	1	0	0	0	0	8035	1357	47	0	80	0	KCNH5	14	63174303	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	1728018	63174303	44175237	1130	21724											
SYNE2	23224	broad.mit.edu	37	chr14	64520155	64520155	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaatctcaattacagcagcCattacttataaatttggaaa	4	7	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:64520155C>A	uc001xgm.2	+	48	9754	c.9524C>A	c.(9523-9525)CCA>CAA	p.P3175Q	SYNE2_uc001xgl.2_Missense_Mutation_p.P3175Q|SYNE2_uc010apw.1_5'Flank	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3175	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTACAGCAGCCATTACTTATA	0.308													A	64520155	C	A	64520155	3	1	23	1	0	0	0	0	1	0	0	0	15443	594	21	5	9710	5	SYNE2	14	64520155	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1345852	64520155	42829385	1131	21725											
FUT8	2530	broad.mit.edu	37	chr14	66209091	66209091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcgagagaagatagaaaCggtcaagtaccccacatatc	9	9	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:66209091C>T	uc001xin.2	+	11	2888	c.1691C>T	c.(1690-1692)ACG>ATG	p.T564M	FUT8_uc001xio.2_Missense_Mutation_p.T564M|FUT8_uc010tsp.1_Missense_Mutation_p.T401M|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.T564M|FUT8_uc001xiq.2_Missense_Mutation_p.T435M|FUT8_uc001xis.2_Missense_Mutation_p.T158M	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 isoform a	564	Lumenal (Potential).				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		AAGATAGAAACGGTCAAGTAC	0.443													T	66209091	C	T	66209091	3	4	23	1	0	0	0	0	1	0	0	0	6110	536	19	1	1824	1	FUT8	14	66209091	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1688936	66209091	41140449	1132	21726											
PLEK2	26499	broad.mit.edu	37	chr14	67864541	67864541	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagttgtggacaatgtgGccctatggacagacaagaaa	11	8	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:67864541G>A	uc001xjh.1	-	2	97	c.45C>T	c.(43-45)GGC>GGT	p.G15G		NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	15	PH 1.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				ovary(1)|pancreas(1)	2				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		GGACAATGTGGCCCTATGGAC	0.582													A	67864541	G	A	67864541	2	1	23	1	0	0	0	0	0	0	0	1	12054	1190	42	2		2	PLEK2	14	67864541	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1655450	67864541	39484999	1133	21727											
RDH12	145226	broad.mit.edu	37	chr14	68191306	68191306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccagagagctcgctagccGaggtaagtgtttccccttta	12	11	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:68191306G>A	uc001xjz.3	+	4	509	c.185G>A	c.(184-186)CGA>CAA	p.R62Q		NM_152443	NP_689656	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12	62					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			ovary(1)	1				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	CTCGCTAGCCGAGGTAAGTGT	0.552													A	68191306	G	A	68191306	3	1	23	1	0	0	0	0	1	0	0	0	13191	1058	37	1	191	1	RDH12	14	68191306	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	326765	68191306	39158234	1134	21728											
ZFYVE26	23503	broad.mit.edu	37	chr14	68215185	68215185	+	Frame_Shift_Del	DEL	G	G	-													gcctgggccatgggcaccccGggggtggcttgtcagaagcc					rs36063417		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:68215184_68215184CG>C	uc001xka.2	-	41	7728	c.7589_7589CG>G	c.(7588-7590)cggfs	p.R2530fs	ZFYVE26_uc010tsz.1_Non-coding_Transcript	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	2530					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ATGGGCACCCCGGGGGTGGCT	0.652													-	68215185	G	-	68215185	7	5	23	1	0	1	0	1	0	0	0	0	17665	1115	39	0	35	0	ZFYVE26	14	68215185	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	23879	68215185	39134355	1135	21729											
DCAF5	8816	broad.mit.edu	37	chr14	69521511	69521511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtgctccgctcaggggacGaggttggggaggaggagagg	21	6	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:69521511G>A	uc001xkp.2	-	9	2111	c.1892C>T	c.(1891-1893)TCG>TTG	p.S631L	DCAF5_uc001xkq.2_Missense_Mutation_p.S630L	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	631						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2						CTCAGGGGACGAGGTTGGGGA	0.493													A	69521511	G	A	69521511	3	1	23	1	0	0	0	0	1	0	0	0	4273	1059	37	1	940	1	DCAF5	14	69521511	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1306326	69521511	37828029	1136	21730											
DPF3	8110	broad.mit.edu	37	chr14	73140953	73140953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggccacactcaccagagCgtccacagtctgcgcaggac	12	15	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:73140953C>T	uc001xnc.2	-	8	879	c.866G>A	c.(865-867)CGC>CAC	p.R289H	DPF3_uc001xnd.1_RNA|DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.R289H|DPF3_uc010ttq.1_Missense_Mutation_p.R299H	NM_012074	NP_036206	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	289	PHD-type 1.				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTCACCAGAGCGTCCACAGTC	0.577													T	73140953	C	T	73140953	3	4	23	1	0	0	0	0	1	0	0	0	4718	768	27	1	215	1	DPF3	14	73140953	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3619442	73140953	34208587	1137	21731											
DCAF4	26094	broad.mit.edu	37	chr14	73425386	73425386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctactgagaaccataccctCcccgtaccctgcctccaagg	6	19	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:73425386C>T	uc001xng.2	+	14	1581	c.1361C>T	c.(1360-1362)TCC>TTC	p.S454F	DCAF4_uc001xnj.2_Missense_Mutation_p.S448F|DCAF4_uc010ttr.1_Missense_Mutation_p.S433F|DCAF4_uc001xnh.2_Missense_Mutation_p.S354F|DCAF4_uc010tts.1_Missense_Mutation_p.S394F|DCAF4_uc010ttt.1_Missense_Mutation_p.S240F|DCAF4_uc001xni.2_Missense_Mutation_p.S284F	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4 isoform 1	454						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)|skin(1)	3						ACCATACCCTCCCCGTACCCT	0.657													T	73425386	C	T	73425386	3	4	23	1	0	0	0	0	1	0	0	0	4270	855	30	4	1414	4	DCAF4	14	73425386	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	284433	73425386	33924154	1138	21732											
PAPLN	89932	broad.mit.edu	37	chr14	73732083	73732083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttgtttggcaggctgcGtttggaccagaaccagcccc	12	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:73732083G>A	uc010ttx.1	+	22	3294	c.3131G>A	c.(3130-3132)CGT>CAT	p.R1044H	PAPLN_uc001xnw.3_Missense_Mutation_p.R1017H|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.R1028H|PAPLN_uc010arm.2_Missense_Mutation_p.R243H|PAPLN_uc010arn.2_Missense_Mutation_p.R244H	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	1044	Ig-like C2-type 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GGCAGGCTGCGTTTGGACCAG	0.677													A	73732083	G	A	73732083	3	1	23	1	0	0	0	0	1	0	0	0	11428	1145	40	1	3132	1	PAPLN	14	73732083	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	306697	73732083	33617457	1139	21733											
C14orf43	91748	broad.mit.edu	37	chr14	74193655	74193655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggatttctgcctggaacCgggagcccacgttgatccgt	14	11	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:74193655C>T	uc001xot.2	-	6	2966	c.2183G>A	c.(2182-2184)CGG>CAG	p.R728Q	C14orf43_uc001xos.2_5'UTR|C14orf43_uc001xou.2_Missense_Mutation_p.R728Q|C14orf43_uc010tud.1_Missense_Mutation_p.R728Q|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	728	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		TGCCTGGAACCGGGAGCCCAC	0.597													T	74193655	C	T	74193655	3	4	23	1	0	0	0	0	1	0	0	0	1774	652	23	1	982	1	C14orf43	14	74193655	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	461572	74193655	33155885	1140	21734											
LTBP2	4053	broad.mit.edu	37	chr14	75017918	75017918	+	Frame_Shift_Del	DEL	G	G	-													ggctggcaggcagccagggcGggggtctggtctccacgctg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:75017917_75017917CG>C	uc001xqa.3	-	6	1923	c.1536_1536CG>G	c.(1534-1536)ccgfs	p.P512fs		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	512					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.P512P(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCAGCCAGGGCGGGGGTCTGG	0.701													-	75017918	G	-	75017918	7	5	23	1	0	1	0	1	0	0	0	0	9074	1116	39	0	4050	0	LTBP2	14	75017918	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	824263	75017918	32331622	1141	21735											
YLPM1	56252	broad.mit.edu	37	chr14	75276988	75276988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgagccttattttgatcGtcaaagtaatgtcatagcag	9	7	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:75276988G>A	uc001xqj.3	+	9	5217	c.5093G>A	c.(5092-5094)CGT>CAT	p.R1698H	YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Missense_Mutation_p.R181H	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1503	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TATTTTGATCGTCAAAGTAAT	0.393													A	75276988	G	A	75276988	3	1	23	1	0	0	0	0	1	0	0	0	17483	1145	40	1	5127	1	YLPM1	14	75276988	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	259070	75276988	32072552	1142	21736											
MLH3	27030	broad.mit.edu	37	chr14	75513336	75513336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgtggcatcttctaccGgattcattaacattccactg	6	13	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:75513336G>A	uc001xrd.1	-	2	3239	c.3023C>T	c.(3022-3024)CCG>CTG	p.P1008L	MLH3_uc001xre.1_Missense_Mutation_p.P1008L|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	1008					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ATCTTCTACCGGATTCATTAA	0.393								MMR					A	75513336	G	A	75513336	3	1	23	1	0	0	0	0	1	0	0	0	9618	1116	39	1	1386	1	MLH3	14	75513336	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	236348	75513336	31836204	1143	21737											
TMED8	283578	broad.mit.edu	37	chr14	77809701	77809701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggatgagtaggtacccGgatggtcaccacctcaccac	10	14	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:77809701G>A	uc001xto.1	-	5	580	c.580C>T	c.(580-582)CGG>TGG	p.R194W	TMED8_uc010ast.1_RNA|TMED8_uc001xtn.1_Missense_Mutation_p.R38W	NM_213601	NP_998766	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain	194	GOLD.				transport	integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GTAGGTACCCGGATGGTCACC	0.517													A	77809701	G	A	77809701	3	1	23	1	0	0	0	0	1	0	0	0	16008	1115	39	1	404	1	TMED8	14	77809701	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2296365	77809701	29539839	1144	21738											
C14orf174	161394	broad.mit.edu	37	chr14	77857438	77857438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccctatagggatattatcGgcttatatttagagcaaaaa	7	6	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:77857438G>A	uc001xtq.1	+	3	1876	c.1876G>A	c.(1876-1878)GGC>AGC	p.G626S		NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	hypothetical protein LOC161394	626											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)		GGATATTATCGGCTTATATTT	0.418													A	77857438	G	A	77857438	3	1	23	1	0	0	0	0	1	0	0	0	1759	1116	39	1	1886	1	C14orf174	14	77857438	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	47737	77857438	29492102	1145	21739											
VIPAR	63894	broad.mit.edu	37	chr14	77907427	77907427	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accgcaagctcttctgttctAtctaggaacctgggaagaag	10	10	4	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:77907427A>G	uc001xtt.1	-	12	1082	c.744T>C	c.(742-744)GAT>GAC	p.D248D	VIPAR_uc001xtu.1_Silent_p.D248D|VIPAR_uc010tvj.1_Silent_p.D199D|VIPAR_uc001xtv.1_Silent_p.D248D	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	hypothetical protein LOC63894	248					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding			central_nervous_system(1)	1						CTTCTGTTCTATCTAGGAACC	0.373													G	77907427	A	G	77907427	2	3	23	1	0	0	0	0	0	0	0	1	17165	446	16	3		3	VIPAR	14	77907427	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	49989	77907427	29442113	1146	21740											
TSHR	7253	broad.mit.edu	37	chr14	81609460	81609460	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcataacaacgctcattattAcgtcttctttgaagaacaag	5	9	4	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:81609460A>G	uc001xvd.1	+	10	1214	c.1058A>G	c.(1057-1059)TAC>TGC	p.Y353C		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	353	Extracellular (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCTCATTATTACGTCTTCTTT	0.448			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 						G	81609460	A	G	81609460	3	3	23	1	0	0	0	0	1	0	0	0	16619	391	14	3	1233	3	TSHR	14	81609460	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	3702033	81609460	25740080	1147	21741											
SEL1L	6400	broad.mit.edu	37	chr14	81943446	81943446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactgttcccaacagcagcGcaatgatggtcatgaggtaa	11	9	1	3	rs141918133		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:81943446G>A	uc010tvv.1	-	21	2372	c.2255C>T	c.(2254-2256)GCG>GTG	p.A752V		NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	752	Mediates retention to the endoplasmic reticulum.|Helical; (Potential).				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CAACAGCAGCGCAATGATGGT	0.512													A	81943446	G	A	81943446	3	1	23	1	0	0	0	0	1	0	0	0	14010	1087	38	1	133	1	SEL1L	14	81943446	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	333986	81943446	25406094	1148	21742											
SERPINA6	866	broad.mit.edu	37	chr14	94776089	94776089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacctgctggtcaggcctgCggaccacctgttaatcgtgt	11	12	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:94776089C>T	uc001ycv.2	-	3	972	c.868G>A	c.(868-870)GCA>ACA	p.A290T	SERPINA6_uc010auv.2_RNA	NM_001756	NP_001747	P08185	CBG_HUMAN	corticosteroid binding globulin precursor	290					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			skin(3)|ovary(1)|central_nervous_system(1)	5		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GTCAGGCCTGCGGACCACCTG	0.562													T	94776089	C	T	94776089	3	4	23	1	0	0	0	0	1	0	0	0	14093	768	27	1	361	1	SERPINA6	14	94776089	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	12832643	94776089	12573451	1149	21743											
DEGS2	123099	broad.mit.edu	37	chr14	100616037	100616037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatcagggccttgatggcCgggtacttggctgcaaggaa	15	10	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:100616037C>T	uc001ygx.2	-	2	181	c.93G>A	c.(91-93)CCG>CCA	p.P31P		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	degenerative spermatocyte homolog 2, lipid	31					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity				0		Melanoma(154;0.212)				CCTTGATGGCCGGGTACTTGG	0.701													T	100616037	C	T	100616037	2	4	23	1	0	0	0	0	0	0	0	1	4423	639	23	1		1	DEGS2	14	100616037	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	5839948	100616037	6733503	1150	21744											
WARS	7453	broad.mit.edu	37	chr14	100801237	100801237	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaagtcgaaggacagcttcCggggagtcatgaactctttc	12	9	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:100801237C>A	uc001yhf.1	-	10	1475	c.1391G>T	c.(1390-1392)CGG>CTG	p.R464L	WARS_uc001yhe.1_Missense_Mutation_p.R270L|WARS_uc001yhg.1_Missense_Mutation_p.R464L|WARS_uc001yhh.1_Missense_Mutation_p.R464L|WARS_uc001yhi.1_Missense_Mutation_p.R423L|WARS_uc001yhj.1_Missense_Mutation_p.R423L|WARS_uc001yhk.1_Missense_Mutation_p.R423L|WARS_uc001yhl.1_Missense_Mutation_p.R464L	NM_173701	NP_776049	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase isoform a	464					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(1)	1		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	GGACAGCTTCCGGGGAGTCAT	0.478													A	100801237	C	A	100801237	3	1	23	1	0	0	0	0	1	0	0	0	17246	652	23	5	28	5	WARS	14	100801237	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	185200	100801237	6548303	1151	21745											
DYNC1H1	1778	broad.mit.edu	37	chr14	102452687	102452687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaaggaaggtgcagcagCgcaacctcggtgtctcgggg	18	10	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:102452687C>T	uc001yks.2	+	8	2289	c.2125C>T	c.(2125-2127)CGC>TGC	p.R709C		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	709	Interaction with DYNC1LI2 (By similarity).|Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						GGTGCAGCAGCGCAACCTCGG	0.537													T	102452687	C	T	102452687	3	4	23	1	0	0	0	0	1	0	0	0	4841	768	27	1	2155	1	DYNC1H1	14	102452687	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1651450	102452687	4896853	1152	21746											
DYNC1H1	1778	broad.mit.edu	37	chr14	102466418	102466418	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagagagaagtgtgcaaaGgccaaggaggcgctggaatt	16	6	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:102466418G>A	uc001yks.2	+	17	4061	c.3897G>A	c.(3895-3897)AAG>AAA	p.K1299K		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1299	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						AGTGTGCAAAGGCCAAGGAGG	0.557													A	102466418	G	A	102466418	2	1	23	1	0	0	0	0	0	0	0	1	4841	991	35	4		4	DYNC1H1	14	102466418	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	13731	102466418	4883122	1153	21747											
TECPR2	9895	broad.mit.edu	37	chr14	102912234	102912234	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgggaacctgtggttcagaActggcattatttccaagaag	11	7	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:102912234A>C	uc001ylw.1	+	13	3173	c.3025A>C	c.(3025-3027)ACT>CCT	p.T1009P	TECPR2_uc010awl.2_Missense_Mutation_p.T1009P|TECPR2_uc010txx.1_Missense_Mutation_p.T172P	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1009	TECPR 2.						protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						GTGGTTCAGAACTGGCATTAT	0.542													C	102912234	A	C	102912234	3	2	23	1	0	0	0	0	1	0	0	0	15741	43	2	5	3071	5	TECPR2	14	102912234	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	445816	102912234	4437306	1154	21748											
AHNAK2	113146	broad.mit.edu	37	chr14	105410506	105410506	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggcagagacacctccacaTcaggggctgtgacttccgcc	12	14	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:105410506T>C	uc010axc.1	-	7	11402	c.11282A>G	c.(11281-11283)GAT>GGT	p.D3761G	AHNAK2_uc001ypx.2_Missense_Mutation_p.D3661G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3761						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)			CACCTCCACATCAGGGGCTGT	0.607													C	105410506	T	C	105410506	3	2	23	1	0	0	0	0	1	0	0	0	415	1435	50	3	6109	3	AHNAK2	14	105410506	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	2498272	105410506	1939034	1155	21749											
AHNAK2	113146	broad.mit.edu	37	chr14	105412039	105412039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcaggtccagcttggggCccttgatgtctatctggggg	14	10	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:105412039C>T	uc010axc.1	-	7	9869	c.9749G>A	c.(9748-9750)GGC>GAC	p.G3250D	AHNAK2_uc001ypx.2_Missense_Mutation_p.G3150D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3250						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)			CAGCTTGGGGCCCTTGATGTC	0.622													T	105412039	C	T	105412039	3	4	23	1	0	0	0	0	1	0	0	0	415	739	26	2	7642	2	AHNAK2	14	105412039	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1533	105412039	1937501	1156	21750											
CRIP1	1396	broad.mit.edu	37	chr14	105954725	105954725	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagccatgtttgggcctaaaGgtatgctcccgtcatcccca	9	14	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:105954725G>T	uc001yri.3	+	4	307	c.193G>T	c.(193-195)GGC>TGC	p.G65C	C14orf80_uc001yrj.2_5'Flank|C14orf80_uc001yrk.2_5'Flank|C14orf80_uc001yrn.2_5'Flank|C14orf80_uc001yro.2_5'Flank|C14orf80_uc001yrm.2_5'Flank	NM_001311	NP_001302	P50238	CRIP1_HUMAN	cysteine-rich protein 1 (intestinal)	65	Gly-rich.				cell proliferation	cytoplasm	zinc ion binding				0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		TGGGCCTAAAGGTATGCTCCC	0.547													T	105954725	G	T	105954725	3	4	23	1	0	0	0	0	1	0	0	0	3874	1014	35	5	203	5	CRIP1	14	105954725	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	542686	105954725	1394815	1157	21751											
CYFIP1	23191	broad.mit.edu	37	chr15	22962283	22962283	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgttttgaccaatttgtttAcaagctagcagaccagatat	7	7	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:22962283A>G	uc001yus.2	+	19	2215	c.2111A>G	c.(2110-2112)TAC>TGC	p.Y704C	CYFIP1_uc001yut.2_Missense_Mutation_p.Y704C|CYFIP1_uc010aya.1_Missense_Mutation_p.Y732C|CYFIP1_uc001yuu.2_Missense_Mutation_p.Y273C	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	704				Y->D: Constitutive induction of the formation of actin filaments; when associated with D-697.	axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CAATTTGTTTACAAGCTAGCA	0.343													G	22962283	A	G	22962283	3	3	23	1	0	0	0	0	1	0	0	0	4137	391	14	3	2562	3	CYFIP1	15	22962283	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08		22962283	79569109	1158	21752											
CYFIP1	23191	broad.mit.edu	37	chr15	22999391	22999391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaaggagcgcctctgctGcggcctgtccatgtttgagg	14	11	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:22999391G>A	uc001yus.2	+	29	3367	c.3263G>A	c.(3262-3264)TGC>TAC	p.C1088Y	CYFIP1_uc001yut.2_Missense_Mutation_p.C1088Y|CYFIP1_uc001yuu.2_Missense_Mutation_p.C657Y|CYFIP1_uc001yuv.2_Missense_Mutation_p.C282Y	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	1088					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CGCCTCTGCTGCGGCCTGTCC	0.607													A	22999391	G	A	22999391	3	1	23	1	0	0	0	0	1	0	0	0	4137	1319	46	2	3754	2	CYFIP1	15	22999391	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	37108	22999391	79532001	1159	21753											
ATP10A	57194	broad.mit.edu	37	chr15	25924712	25924712	+	Frame_Shift_Del	DEL	G	G	-													caggctgaagagggaagacaGgggggtcaccctgccggtgc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:25924711_25924711AG>A	uc010ayu.3	-	20	4383	c.4277_4277CT>T	c.(4276-4278)ctgfs	p.L1426fs		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	1426					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GAGGGAAGACAGGGGGGTCAC	0.622													-	25924712	G	-	25924712	7	5	23	1	0	1	0	1	0	0	0	0	1116	991	35	0	227	0	ATP10A	15	25924712	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	2925321	25924712	76606680	1160	21754											
HERC2	8924	broad.mit.edu	37	chr15	28473545	28473545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatggtttgcaggggaacCggctggatacctaatgagca	15	7	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:28473545C>T	uc001zbj.2	-	35	5389	c.5283G>A	c.(5281-5283)CCG>CCA	p.P1761P		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1761					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCAGGGGAACCGGCTGGATAC	0.527													T	28473545	C	T	28473545	2	4	23	1	0	0	0	0	0	0	0	1	7058	639	23	1		1	HERC2	15	28473545	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2548833	28473545	74057847	1161	21755											
MTMR15	22909	broad.mit.edu	37	chr15	31206224	31206224	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgttggtcaacctcggcCgaatggagtttcctagttac	10	11	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:31206224C>T	uc001zff.2	+	5	2032	c.1741C>T	c.(1741-1743)CGA>TGA	p.R581*	MTMR15_uc001zfe.2_Nonsense_Mutation_p.R186*	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	581					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		CAACCTCGGCCGAATGGAGTT	0.458								Direct_reversal_of_damage|Editing_and_processing_nucleases					T	31206224	C	T	31206224	4	4	23	1	0	0	0	0	0	1	0	0	9943	644	23	1	1780	1	MTMR15	15	31206224	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2732679	31206224	71325168	1162	21756											
RYR3	6263	broad.mit.edu	37	chr15	34145819	34145819	+	Frame_Shift_Del	DEL	A	A	-													ctgaacttctgggtttggacAaaaatgctcttgactttagc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:34145818_34145818CA>C	uc001zhi.3	+	95	13804	c.13734_13734CA>C	c.(13732-13734)gacfs	p.D4578fs	RYR3_uc010bar.3_Frame_Shift_Del_p.D4573fs	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4578					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGGTTTGGACAAAAATGCTC	0.478													-	34145819	A	-	34145819	7	5	23	1	0	1	0	1	0	0	0	0	13770	131	5	0	14117	0	RYR3	15	34145819	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	2939595	34145819	68385573	1163	21757											
SLC12A6	9990	broad.mit.edu	37	chr15	34531214	34531214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcgctttgacgccagccatTaggccagcccatcaccaccg	8	17	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:34531214T>C	uc001zhw.2	-	19	2748	c.2584A>G	c.(2584-2586)AAT>GAT	p.N862D	SLC12A6_uc001zhv.2_Missense_Mutation_p.N811D|SLC12A6_uc001zhx.2_Missense_Mutation_p.N847D|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.N803D|SLC12A6_uc001zib.2_Missense_Mutation_p.N853D|SLC12A6_uc001zic.2_Missense_Mutation_p.N862D|SLC12A6_uc010bau.2_Missense_Mutation_p.N862D|SLC12A6_uc001zid.2_Missense_Mutation_p.N803D|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.N674D	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	862					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CGCCAGCCATTAGGCCAGCCC	0.537													C	34531214	T	C	34531214	3	2	23	1	0	0	0	0	1	0	0	0	14387	1754	61	3	896	3	SLC12A6	15	34531214	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	385395	34531214	68000178	1164	21758											
LPCAT4	254531	broad.mit.edu	37	chr15	34652368	34652368	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcccccatccagagctgctaGtgcaagggccacatctcgga	11	15	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:34652368G>C	uc001zig.2	-	12	1280	c.1186C>G	c.(1186-1188)CTA>GTA	p.L396V		NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	396					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding				0						AGAGCTGCTAGTGCAAGGGCC	0.592													C	34652368	G	C	34652368	3	2	23	1	0	0	0	0	1	0	0	0	8913	1020	36	5	400	5	LPCAT4	15	34652368	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	121154	34652368	67879024	1165	21759											
THBS1	7057	broad.mit.edu	37	chr15	39874929	39874929	+	Frame_Shift_Del	DEL	G	G	-													gccagactccgcatcgcaaaGgggggcgtcaatgacaattt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:39874928_39874928AG>A	uc001zkh.3	+	2	781	c.602_602AG>A	c.(601-603)aagfs	p.K201fs		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	201	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CGCATCGCAAAGGGGGGCGTC	0.557													-	39874929	G	-	39874929	7	5	23	1	0	1	0	1	0	0	0	0	15850	991	35	0	609	0	THBS1	15	39874929	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	5222561	39874929	62656463	1166	21760											
DISP2	85455	broad.mit.edu	37	chr15	40660038	40660039	+	Frame_Shift_Ins	INS	-	-	G													gcaagagccagctgccgtcgINSggggggctggcgcagcgcgt					rs75662097	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:40660037_40660038C>CG	uc001zlk.1	+	7	1813_1814	c.1724_1725C>CG	c.(1723-1725)tcgfs	p.S575fs		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	575	SSD.				smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CAGCTGCCGTCGGGGGGGCTGG	0.663													G	40660039	-	G	40660038	7	5	23	1	0	1	1	0	0	0	0	0	4540	1103	39	0	1755	0	DISP2	15	40660038	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	785109	40660038	61871354	1167	21761											
IVD	3712	broad.mit.edu	37	chr15	40700156	40700156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaattttggaagcagctgGggaacctgggcgtattgggc	17	6	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:40700156G>A	uc001zls.3	+	3	596	c.262G>A	c.(262-264)GGG>AGG	p.G88R	IVD_uc001zlq.2_Missense_Mutation_p.G58R	NM_002225	NP_002216	P26440	IVD_HUMAN	isovaleryl Coenzyme A dehydrogenase isoform 1	85					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			ovary(1)	1		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		GAAGCAGCTGGGGAACCTGGG	0.478													A	40700156	G	A	40700156	3	1	23	1	0	0	0	0	1	0	0	0	7928	1232	43	4	272	4	IVD	15	40700156	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	40118	40700156	61831236	1168	21762											
CASC5	57082	broad.mit.edu	37	chr15	40912977	40912978	+	Frame_Shift_Ins	INS	-	-	A													ttagataatcccataagtgaINSaaagtccaccaagatagata							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:40912976_40912977G>GA	uc010bbs.1	+	10	753_754	c.592_593G>GA	c.(592-594)gaafs	p.E198fs	CASC5_uc010ucq.1_Frame_Shift_Ins_p.E22fs|CASC5_uc001zme.3_Frame_Shift_Ins_p.E172fs|CASC5_uc010bbt.1_Frame_Shift_Ins_p.E172fs	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	198	Interaction with BUB1 and BUB1B.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TCCCATAAGTGAAAAGTCCACC	0.361													A	40912978	-	A	40912977	7	5	23	1	0	1	1	0	0	0	0	0	2663	246	9	0	631	0	CASC5	15	40912977	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	212821	40912977	61618415	1169	21763											
CASC5	57082	broad.mit.edu	37	chr15	40915554	40915554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggggccctgtagaggtagCtgataacatggaattgtcta	13	6	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:40915554C>T	uc010bbs.1	+	11	3331	c.3170C>T	c.(3169-3171)GCT>GTT	p.A1057V	CASC5_uc010ucq.1_Missense_Mutation_p.A881V|CASC5_uc001zme.2_Missense_Mutation_p.A1031V|CASC5_uc010bbt.1_Missense_Mutation_p.A1031V	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	1057	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GTAGAGGTAGCTGATAACATG	0.423													T	40915554	C	T	40915554	3	4	23	1	0	0	0	0	1	0	0	0	2663	797	28	2	3208	2	CASC5	15	40915554	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2577	40915554	61615838	1170	21764											
VPS18	57617	broad.mit.edu	37	chr15	41191837	41191837	+	Frame_Shift_Del	DEL	C	C	-													cagtgagttggccttctacaCccccaagctgcgctccgcac							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:41191836_41191836AC>A	uc001zne.3	+	3	1159	c.820_820AC>A	c.(820-822)accfs	p.T274fs		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	274					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGCCTTCTACACCCCCAAGCT	0.622													-	41191837	C	-	41191837	7	5	23	1	0	1	0	1	0	0	0	0	17191	507	18	0	835	0	VPS18	15	41191837	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	276283	41191837	61339555	1171	21765											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42132848	42132848	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttcacttcaggatccacaGgcagctcaaggtgggccagg	12	12	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:42132848G>T	uc010bco.2	+	3	310	c.209G>T	c.(208-210)AGG>ATG	p.R70M	JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.R301M|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.R301M|JMJD7-PLA2G4B_uc001zoq.3_Translation_Start_Site|JMJD7-PLA2G4B_uc001zor.1_5'Flank	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	70	C2.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						AGGATCCACAGGCAGCTCAAG	0.632													T	42132848	G	T	42132848	3	4	23	1	0	0	0	0	1	0	0	0	7955	1000	35	5	932	5	JMJD7-PLA2G4B	15	42132848	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	941011	42132848	60398544	1172	21766											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42134398	42134398	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcccctgcaggatgcccCcgaggagcaactaaaggcgc	12	14	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:42134398C>A	uc010bco.2	+	9	730	c.629C>A	c.(628-630)CCC>CAC	p.P210H	JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.P441H|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.P441H|JMJD7-PLA2G4B_uc001zoq.3_5'UTR|JMJD7-PLA2G4B_uc001zor.1_5'Flank	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	210					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						CAGGATGCCCCCGAGGAGCAA	0.572													A	42134398	C	A	42134398	3	1	23	1	0	0	0	0	1	0	0	0	7955	623	22	5	1376	5	JMJD7-PLA2G4B	15	42134398	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1550	42134398	60396994	1173	21767											
CAPN3	825	broad.mit.edu	37	chr15	42681202	42681202	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acttcacaggaggggtggcaGagttttttgagatcagggat	15	5	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:42681202G>T	uc001zpn.1	+	5	1015	c.709G>T	c.(709-711)GAG>TAG	p.E237*	CAPN3_uc001zpk.1_Nonsense_Mutation_p.E10*|CAPN3_uc001zpl.1_Nonsense_Mutation_p.E150*|CAPN3_uc010udf.1_Nonsense_Mutation_p.E150*|CAPN3_uc010udg.1_Nonsense_Mutation_p.E150*|CAPN3_uc001zpo.1_Nonsense_Mutation_p.E237*|CAPN3_uc001zpp.1_Nonsense_Mutation_p.E237*	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	237	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AGGGGTGGCAGAGTTTTTTGA	0.502													T	42681202	G	T	42681202	4	4	23	1	0	0	0	0	0	1	0	0	2628	943	33	5	779	5	CAPN3	15	42681202	Nonsense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	546804	42681202	59850190	1174	21768											
ZFP106	64397	broad.mit.edu	37	chr15	42743249	42743249	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctgtattcctgtagttatCaagctaaaatcaaagagagg	8	7	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:42743249C>A	uc001zpw.2	-	2	1487	c.1152G>T	c.(1150-1152)TTG>TTT	p.L384F	ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.L167F|ZFP106_uc001zpy.1_Missense_Mutation_p.L407F	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	384						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		CTGTAGTTATCAAGCTAAAAT	0.388													A	42743249	C	A	42743249	3	1	23	1	0	0	0	0	1	0	0	0	17634	825	29	5	4571	5	ZFP106	15	42743249	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	62047	42743249	59788143	1175	21769											
TTBK2	146057	broad.mit.edu	37	chr15	43044817	43044817	+	Frame_Shift_Del	DEL	T	T	-													catcatccttagatatcttaTttttttgcatttctgccact							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:43044816_43044816AT>A	uc001zqo.2	-	13	3067	c.2628_2628AT>T	c.(2626-2628)aatfs	p.N876fs	TTBK2_uc010bcy.2_Frame_Shift_Del_p.N807fs	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	876					cell death		ATP binding|protein serine/threonine kinase activity	p.N876fs*2(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TAGATATCTTATTTTTTTGCA	0.408													-	43044817	T	-	43044817	7	5	23	1	0	1	0	1	0	0	0	0	16674	1493	52	0	1115	0	TTBK2	15	43044817	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	301568	43044817	59486575	1176	21770											
TGM7	116179	broad.mit.edu	37	chr15	43585663	43585663	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaccggtctcagccacaaaGgtgatgtggtcgttctggga	13	10	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:43585663G>T	uc001zrf.1	-	2	182	c.177C>A	c.(175-177)ACC>ACA	p.T59T		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	59					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CAGCCACAAAGGTGATGTGGT	0.627													T	43585663	G	T	43585663	2	4	23	1	0	0	0	0	0	0	0	1	15832	987	35	5		5	TGM7	15	43585663	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	540846	43585663	58945729	1177	21771											
TP53BP1	7158	broad.mit.edu	37	chr15	43748297	43748297	+	Frame_Shift_Del	DEL	G	G	-													cactaaaggtaaggaaggctGtgaagaatcttgctctacag							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:43748296_43748296TG>T	uc001zrs.3	-	11	2643	c.2495_2495CA>A	c.(2494-2496)cagfs	p.Q832fs	TP53BP1_uc010udp.2_Frame_Shift_Del_p.Q832fs|TP53BP1_uc001zrq.4_Frame_Shift_Del_p.Q837fs|TP53BP1_uc001zrr.4_Frame_Shift_Del_p.Q837fs|TP53BP1_uc010udq.1_Frame_Shift_Del_p.Q837fs	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	832					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding	p.Q832Q(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TAAGGAAGGCTGTGAAGAATC	0.413								Other conserved DNA damage response genes					-	43748297	G	-	43748297	7	5	23	1	0	1	0	1	0	0	0	0	16380	1386	48	0	3492	0	TP53BP1	15	43748297	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	162634	43748297	58783095	1178	21772											
MAP1A	4130	broad.mit.edu	37	chr15	43816368	43816368	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtaccatctcacccacctcCtcactggaagaagacaaggg	9	14	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:43816368C>A	uc001zrt.2	+	4	3164	c.2697C>A	c.(2695-2697)TCC>TCA	p.S899S		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	899						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CACCCACCTCCTCACTGGAAG	0.537													A	43816368	C	A	43816368	2	1	23	1	0	0	0	0	0	0	0	1	9227	668	24	5		5	MAP1A	15	43816368	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	68071	43816368	58715024	1179	21773											
DUOX1	53905	broad.mit.edu	37	chr15	45454089	45454089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgcttagcctgcacatccGggcagcagggccctggacca	12	16	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:45454089G>A	uc001zus.1	+	31	4356	c.4010G>A	c.(4009-4011)CGG>CAG	p.R1337Q	DUOX1_uc001zut.1_Missense_Mutation_p.R1337Q|DUOX1_uc010bee.1_Missense_Mutation_p.R717Q	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1337	Cytoplasmic (Potential).|FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTGCACATCCGGGCAGCAGGG	0.637													A	45454089	G	A	45454089	3	1	23	1	0	0	0	0	1	0	0	0	4800	1116	39	1	4124	1	DUOX1	15	45454089	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1637721	45454089	57077303	1180	21774											
SPATA5L1	79029	broad.mit.edu	37	chr15	45694912	45694912	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcccggaggagtctcagCctgaatcgcctcctcctagt	10	14	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:45694912C>T	uc001zve.2	+	1	394	c.285C>T	c.(283-285)AGC>AGT	p.S95S	uc001zvd.2_5'Flank|SPATA5L1_uc001zvf.2_RNA	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	95						cytoplasm	ATP binding|nucleoside-triphosphatase activity			ovary(3)|skin(1)	4		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GGAGTCTCAGCCTGAATCGCC	0.746													T	45694912	C	T	45694912	2	4	23	1	0	0	0	0	0	0	0	1	15011	738	26	2		2	SPATA5L1	15	45694912	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	240823	45694912	56836480	1181	21775											
ATP8B4	79895	broad.mit.edu	37	chr15	50271884	50271884	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagaatgttaagaatccggAgaacacagagctcttctctc	8	11	2	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:50271884A>G	uc001zxu.2	-	12	1106	c.964T>C	c.(964-966)TCC>CCC	p.S322P	ATP8B4_uc010ber.2_Missense_Mutation_p.S195P|ATP8B4_uc010ufd.1_Missense_Mutation_p.S195P|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	322	Extracellular (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AAGAATCCGGAGAACACAGAG	0.343													G	50271884	A	G	50271884	3	3	23	1	0	0	0	0	1	0	0	0	1197	304	11	3	2682	3	ATP8B4	15	50271884	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	4576972	50271884	52259508	1182	21776											
UNC13C	440279	broad.mit.edu	37	chr15	54527276	54527277	+	Frame_Shift_Ins	INS	-	-	A													gcatgccggatcttcgcagaINSaaaaaaactttgcctattgt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:54527275_54527276G>GA	uc021smr.1	+	3	3119_3120	c.3119_3120G>GA	c.(3118-3120)agafs	p.R1040fs	UNC13C_uc021sms.1_Frame_Shift_Ins_p.R1040fs	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1040					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.R1039G(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GATCTTCGCAGAAAAAAAACTT	0.366													A	54527277	-	A	54527276	7	5	23	1	0	1	1	0	0	0	0	0	16983	243	9	0	3134	0	UNC13C	15	54527276	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	4255392	54527276	48004116	1183	21777											
RAB27A	5873	broad.mit.edu	37	chr15	55522599	55522599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataactgaagatctcatacCtctcctgccctgctgtgtcc	6	15	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:55522599C>T	uc002aco.2	-	4	472	c.239G>A	c.(238-240)AGG>AAG	p.R80K	RAB27A_uc002acr.2_Missense_Mutation_p.R80K|RAB27A_uc002acp.2_Missense_Mutation_p.R80K|RAB27A_uc002acq.2_Missense_Mutation_p.R80K	NM_183234	NP_899057	P51159	RB27A_HUMAN	Ras-related protein Rab-27A	80					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			ovary(1)	1				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		GATCTCATACCTCTCCTGCCC	0.488													T	55522599	C	T	55522599	3	4	23	1	0	0	0	0	1	0	0	0	12914	695	24	4	442	4	RAB27A	15	55522599	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	995323	55522599	47008793	1184	21778											
FAM63B	54629	broad.mit.edu	37	chr15	59102469	59102469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattttgcacaaactacagaCaggcctggatgtaaatgtaa	8	7	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:59102469C>T	uc002afj.2	+	4	1206	c.1004C>T	c.(1003-1005)ACA>ATA	p.T335I	FAM63B_uc002afi.2_Missense_Mutation_p.T335I|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	hypothetical protein LOC54629 isoform a	335										central_nervous_system(1)	1						AAACTACAGACAGGCCTGGAT	0.358													T	59102469	C	T	59102469	3	4	23	1	0	0	0	0	1	0	0	0	5597	478	17	4	1018	4	FAM63B	15	59102469	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3579870	59102469	43428923	1185	21779											
HERC1	8925	broad.mit.edu	37	chr15	63952005	63952005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgatgctcccagtggatcGctgtcagggaactgaactgg	13	10	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:63952005G>A	uc002amp.2	-	47	9502	c.9354C>T	c.(9352-9354)AGC>AGT	p.S3118S		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3118					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						CCAGTGGATCGCTGTCAGGGA	0.438													A	63952005	G	A	63952005	2	1	23	1	0	0	0	0	0	0	0	1	7057	1078	38	1		1	HERC1	15	63952005	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	4849536	63952005	38579387	1186	21780											
CILP	8483	broad.mit.edu	37	chr15	65499120	65499120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggggcgttctggcttacCtggtgggcagaggaagcgta	19	7	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:65499120C>T	uc002aon.2	-	4	605	c.424G>A	c.(424-426)GGA>AGA	p.G142R		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	142					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						TCTGGCTTACCTGGTGGGCAG	0.612													T	65499120	C	T	65499120	3	4	23	1	0	0	0	0	1	0	0	0	3429	695	24	4	3154	4	CILP	15	65499120	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1547115	65499120	37032272	1187	21781											
DPP8	54878	broad.mit.edu	37	chr15	65739248	65739248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttttagagcagcaatacGtgatccaaggttttcttgaa	8	8	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:65739248G>A	uc002aov.2	-	20	4249	c.2671C>T	c.(2671-2673)CGT>TGT	p.R891C	DPP8_uc002aow.2_Missense_Mutation_p.R891C|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.R875C|DPP8_uc002aoy.2_Missense_Mutation_p.R840C|DPP8_uc002aoz.2_Missense_Mutation_p.R775C|DPP8_uc010bhj.2_Missense_Mutation_p.R891C|DPP8_uc002apa.2_Missense_Mutation_p.R684C|DPP8_uc010bhi.2_Missense_Mutation_p.R194C	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	dipeptidyl peptidase 8 isoform 1	891					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			ovary(1)	1						GCAGCAATACGTGATCCAAGG	0.383													A	65739248	G	A	65739248	3	1	23	1	0	0	0	0	1	0	0	0	4732	1145	40	1	29	1	DPP8	15	65739248	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	240128	65739248	36792144	1188	21782											
TIPIN	54962	broad.mit.edu	37	chr15	66629397	66629397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcatttaaagtattggCaatagcatcattacatggat	6	7	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:66629397C>T	uc002apr.2	-	8	891	c.805G>A	c.(805-807)GCC>ACC	p.A269T	TIPIN_uc010ujn.1_Missense_Mutation_p.A168T|TIPIN_uc010ujo.1_Missense_Mutation_p.A168T	NM_017858	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	269					cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding			ovary(1)	1						AAAGTATTGGCAATAGCATCA	0.383													T	66629397	C	T	66629397	3	4	23	1	0	0	0	0	1	0	0	0	15922	710	25	2	104	2	TIPIN	15	66629397	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	890149	66629397	35901995	1189	21783											
MAP2K1	5604	broad.mit.edu	37	chr15	66729203	66729203	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcgttctacagcgatggCgagatcagtatctgcatgga	14	8	3	1	rs146415623		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:66729203C>T	uc010bhq.2	+	3	886	c.411C>T	c.(409-411)GGC>GGT	p.G137G	MAP2K1_uc010ujp.1_Silent_p.G115G	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	137	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						ACAGCGATGGCGAGATCAGTA	0.532									Cardiofaciocutaneous_syndrome				T	66729203	C	T	66729203	2	4	23	1	0	0	0	0	0	0	0	1	9236	755	27	1		1	MAP2K1	15	66729203	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	99806	66729203	35802189	1190	21784											
SMAD3	4088	broad.mit.edu	37	chr15	67477177	67477177	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgctatggctggcacccGgccaccgtctgcaagatccc	11	17	1	1	rs150994304		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:67477177G>A	uc002aqj.2	+	7	1282	c.984G>A	c.(982-984)CCG>CCA	p.P328P	SMAD3_uc010ujr.1_Silent_p.P223P|SMAD3_uc010ujs.1_Silent_p.P284P|SMAD3_uc010ujt.1_Silent_p.P133P	NM_005902	NP_005893	P84022	SMAD3_HUMAN	mothers against decapentaplegic homolog 3	328	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GCTGGCACCCGGCCACCGTCT	0.597													A	67477177	G	A	67477177	2	1	23	1	0	0	0	0	0	0	0	1	14759	1103	39	1		1	SMAD3	15	67477177	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	747974	67477177	35054215	1191	21785											
LBXCOR1	390598	broad.mit.edu	37	chr15	68118543	68118543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgtggccctgggcatcaCgtgcgtgcagtgcacgccgg	16	15	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:68118543C>T	uc002aqy.1	+	2	350	c.350C>T	c.(349-351)ACG>ATG	p.T117M		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	126					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0						CTGGGCATCACGTGCGTGCAG	0.642													T	68118543	C	T	68118543	3	4	23	1	0	0	0	0	1	0	0	0	8655	536	19	1	356	1	LBXCOR1	15	68118543	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	641366	68118543	34412849	1192	21786											
MYO9A	4649	broad.mit.edu	37	chr15	72190884	72190884	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctctcactatcaggtgtAccccgtggagactgaaggcc	12	12	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:72190884A>G	uc002atl.3	-	25	4433	c.3960T>C	c.(3958-3960)GGT>GGC	p.G1320G	MYO9A_uc010biq.2_Silent_p.G940G|MYO9A_uc002atn.1_Silent_p.G1301G|MYO9A_uc002atk.2_Silent_p.G44G|MYO9A_uc002atm.1_Silent_p.G44G	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1320	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						TATCAGGTGTACCCCGTGGAG	0.463													G	72190884	A	G	72190884	2	3	23	1	0	0	0	0	0	0	0	1	10084	378	14	3		3	MYO9A	15	72190884	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	4072341	72190884	30340508	1193	21787											
HEXA	3073	broad.mit.edu	37	chr15	72637826	72637826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtgacaaacgttcatagGcaaatgtcaggtcagatgtc	11	7	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:72637826G>A	uc002aun.3	-	13	1694	c.1487C>T	c.(1486-1488)GCC>GTC	p.A496V	uc002aug.2_RNA|CELF6_uc002auk.3_RNA|HEXA_uc010ukn.1_Missense_Mutation_p.A507V|HEXA_uc002auo.3_Missense_Mutation_p.A359V|HEXA_uc010bix.2_Missense_Mutation_p.A496V	NM_000520	NP_000511	P06865	HEXA_HUMAN	hexosaminidase A preproprotein	496					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			ovary(3)|upper_aerodigestive_tract(1)	4						ACGTTCATAGGCAAATGTCAG	0.582													A	72637826	G	A	72637826	3	1	23	1	0	0	0	0	1	0	0	0	7073	1203	42	2	110	2	HEXA	15	72637826	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	446942	72637826	29893566	1194	21788											
HCN4	10021	broad.mit.edu	37	chr15	73635953	73635953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaatccgctgcgggtccaGgatgatctctgtgttgtcct	11	10	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:73635953G>A	uc002avp.2	-	2	1976	c.982C>T	c.(982-984)CTG>TTG	p.L328L		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	328	Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		TGCGGGTCCAGGATGATCTCT	0.488													A	73635953	G	A	73635953	2	1	23	1	0	0	0	0	0	0	0	1	6999	991	35	4		4	HCN4	15	73635953	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	998127	73635953	28895439	1195	21789											
ISLR2	57611	broad.mit.edu	37	chr15	74425464	74425464	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgacctgcgcaacctgagCgcgctgcagctgctcaaaat	11	14	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:74425464C>T	uc002axd.2	+	4	1138	c.369C>T	c.(367-369)AGC>AGT	p.S123S	ISLR2_uc002axe.2_Silent_p.S123S|ISLR2_uc010bjg.2_Silent_p.S123S|ISLR2_uc010bjf.2_Silent_p.S123S	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	123	LRR 3.|Extracellular (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						GCAACCTGAGCGCGCTGCAGC	0.617													T	74425464	C	T	74425464	2	4	23	1	0	0	0	0	0	0	0	1	7859	767	27	1		1	ISLR2	15	74425464	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	789511	74425464	28105928	1196	21790											
CCDC33	80125	broad.mit.edu	37	chr15	74626275	74626275	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggccaagctggaacaCgctcagagccggatcctgtc	11	15	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:74626275C>T	uc002axo.2	+	17	2386	c.1992C>T	c.(1990-1992)CAC>CAT	p.H664H	CCDC33_uc002axp.2_Silent_p.H520H|CCDC33_uc002axq.2_Silent_p.H291H|CCDC33_uc002axr.2_Silent_p.H257H	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	867	Potential.						protein binding			ovary(3)|skin(2)	5						AGCTGGAACACGCTCAGAGCC	0.567													T	74626275	C	T	74626275	2	4	23	1	0	0	0	0	0	0	0	1	2806	535	19	1		1	CCDC33	15	74626275	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	200811	74626275	27905117	1197	21791											
LMAN1L	79748	broad.mit.edu	37	chr15	75117834	75117834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcaggagctgaacaagaGccttcaggagtgtctgtcca	13	10	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:75117834G>A	uc002ayt.1	+	14	1471	c.1469G>A	c.(1468-1470)AGC>AAC	p.S490N	LMAN1L_uc010bke.1_Missense_Mutation_p.S478N|CPLX3_uc002ayu.1_5'Flank	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like precursor	490	Cytoplasmic (Potential).					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0						CTGAACAAGAGCCTTCAGGAG	0.577													A	75117834	G	A	75117834	3	1	23	1	0	0	0	0	1	0	0	0	8837	971	34	2	1523	2	LMAN1L	15	75117834	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	491559	75117834	27413558	1198	21792											
CSPG4	1464	broad.mit.edu	37	chr15	75968944	75968944	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgctgcctctggctcctcCcgatctgaaaccacccggag	9	16	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:75968944C>T	uc002baw.2	-	10	6009	c.5916G>A	c.(5914-5916)CGG>CGA	p.R1972R		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1972	Extracellular (Potential).|CSPG 14.|Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						CTGGCTCCTCCCGATCTGAAA	0.662													T	75968944	C	T	75968944	2	4	23	1	0	0	0	0	0	0	0	1	3960	610	22	4		4	CSPG4	15	75968944	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	851110	75968944	26562448	1199	21793											
ADAMTS7	11173	broad.mit.edu	37	chr15	79083119	79083119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtgttgtctgcatggtgCgtgatctttaggtcctcctg	14	8	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:79083119C>T	uc002bej.3	-	6	1132	c.921G>A	c.(919-921)ACG>ACA	p.T307T	ADAMTS7_uc010und.1_Silent_p.T307T|ADAMTS7_uc002bek.1_Silent_p.T307T	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	307	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						CTGCATGGTGCGTGATCTTTA	0.562													T	79083119	C	T	79083119	2	4	23	1	0	0	0	0	0	0	0	1	271	755	27	1		1	ADAMTS7	15	79083119	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3114175	79083119	23448273	1200	21794											
AP3B2	8120	broad.mit.edu	37	chr15	83334219	83334219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgctgacctccacgttgCgcacagatgggtctggggct	13	15	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:83334219C>T	uc010uoh.1	-	16	2138	c.1961G>A	c.(1960-1962)CGC>CAC	p.R654H	AP3B2_uc010uoi.1_Missense_Mutation_p.R654H|AP3B2_uc010uoj.1_Missense_Mutation_p.R622H|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.R290H|AP3B2_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	654	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			CTCCACGTTGCGCACAGATGG	0.458													T	83334219	C	T	83334219	3	4	23	1	0	0	0	0	1	0	0	0	745	768	27	1	1331	1	AP3B2	15	83334219	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	4251100	83334219	19197173	1201	21795											
AKAP13	11214	broad.mit.edu	37	chr15	86123335	86123335	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacttctagtggcgatttggTtgcaaaactgtgtgataaca	11	6	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:86123335T>C	uc002blv.1	+	7	2206	c.2036T>C	c.(2035-2037)GTT>GCT	p.V679A	AKAP13_uc002blt.1_Missense_Mutation_p.V679A|AKAP13_uc002blu.1_Missense_Mutation_p.V679A|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	679					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						GGCGATTTGGTTGCAAAACTG	0.483													C	86123335	T	C	86123335	3	2	23	1	0	0	0	0	1	0	0	0	449	1725	60	3	2058	3	AKAP13	15	86123335	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	2789116	86123335	16408057	1202	21796											
AKAP13	11214	broad.mit.edu	37	chr15	86287017	86287017	+	Frame_Shift_Del	DEL	A	A	-													agccaaaggaaaagaaggagAaaaaaaagaagaacaaaacc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:86287016_86287016GA>G	uc002blv.1	+	35	8522	c.8352_8352GA>G	c.(8350-8352)gagfs	p.E2784fs	AKAP13_uc002blu.1_Frame_Shift_Del_p.E2788fs|AKAP13_uc002blw.1_Frame_Shift_Del_p.E1249fs|AKAP13_uc002blx.1_Frame_Shift_Del_p.E1029fs	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2784	Interaction with ESR1.|Poly-Lys.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AAAAGAAGGAGAAAAAAAAGA	0.547													-	86287017	A	-	86287017	7	5	23	1	0	1	0	1	0	0	0	0	449	247	9	0	8561	0	AKAP13	15	86287017	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	163682	86287017	16244375	1203	21797											
KLHL25	64410	broad.mit.edu	37	chr15	86311780	86311780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccatcatccacttgttgGccccagggtcgtatttctcc	7	16	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:86311780G>A	uc002bly.2	-	2	1465	c.1262C>T	c.(1261-1263)GCC>GTC	p.A421V		NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	BTB/POZ KELCH domain protein	421	Kelch 3.					cytoplasm				ovary(2)	2						CCACTTGTTGGCCCCAGGGTC	0.587													A	86311780	G	A	86311780	3	1	23	1	0	0	0	0	1	0	0	0	8380	1203	42	2	511	2	KLHL25	15	86311780	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	24763	86311780	16219612	1204	21798											
KIF7	374654	broad.mit.edu	37	chr15	90171797	90171797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggctcagccgcctcccgCtgcctcagttcctcggggga	14	16	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:90171797C>T	uc002bof.2	-	19	3962	c.3885G>A	c.(3883-3885)CAG>CAA	p.Q1295Q	KIF7_uc010upw.1_Silent_p.Q781Q|C15orf42_uc010upv.1_Intron	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1295					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			ovary(2)|lung(1)	3	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCGCCTCCCGCTGCCTCAGTT	0.682													T	90171797	C	T	90171797	2	4	23	1	0	0	0	0	0	0	0	1	8309	796	28	2		2	KIF7	15	90171797	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3860017	90171797	12359595	1205	21799											
C15orf32	145858	broad.mit.edu	37	chr15	93015505	93015505	+	Frame_Shift_Del	DEL	C	C	-													caagaggagaaggaacggctCcccctttctcggcgaggcca							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:93015504_93015504TC>T	uc002brc.1	+	0	598	c.126_126TC>T	c.(124-126)gctfs	p.A42fs	C15orf32_uc010bod.1_Non-coding_Transcript	NM_153040	NP_694585	Q32M92	CO032_HUMAN	Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA.	42										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			AAGGAACGGCTCCCCCTTTCT	0.542													-	93015505	C	-	93015505	7	5	23	1	0	1	0	1	0	0	0	0	1790	855	30	0	129	0	C15orf32	15	93015505	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	2843708	93015505	9515887	1206	21800											
ASB7	140460	broad.mit.edu	37	chr15	101152629	101152629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgggtttttctagaacacGgaggtgagttttgtagaagc	13	5	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:101152629G>A	uc002bwk.2	+	4	977	c.208G>A	c.(208-210)GGA>AGA	p.G70R	ASB7_uc002bwj.2_Missense_Mutation_p.G70R	NM_198243	NP_937886	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box-containing protein 7	70	ANK 2.				intracellular signal transduction					skin(1)	1	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			TCTAGAACACGGAGGTGAGTT	0.398													A	101152629	G	A	101152629	3	1	23	1	0	0	0	0	1	0	0	0	1028	1117	39	1	210	1	ASB7	15	101152629	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	8137124	101152629	1378763	1207	21801											
AXIN1	8312	broad.mit.edu	37	chr16	396309	396309	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctcatcttcatttaaggtCggcaggtatccagatatgcc	8	11	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:396309C>T	uc002cgp.1	-	2	894	c.717G>A	c.(715-717)CCG>CCA	p.P239P	AXIN1_uc002cgq.1_Silent_p.P239P	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	239	Interaction with TP53 (By similarity).				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CATTTAAGGTCGGCAGGTATC	0.542													T	396309	C	T	396309	2	4	23	1	0	0	0	0	0	0	0	1	1236	871	31	1		1	AXIN1	16	396309	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08		396309	89958444	1208	21802											
DECR2	26063	broad.mit.edu	37	chr16	461554	461554	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcaaagggctgccggatttCgcatccttctctgctaagct	10	12	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:461554C>T	uc002chb.2	+	8	961	c.855C>T	c.(853-855)TTC>TTT	p.F285F	DECR2_uc002chc.2_Silent_p.F201F|DECR2_uc010bqv.2_Silent_p.F201F|DECR2_uc002chd.2_Silent_p.F201F|DECR2_uc002che.1_RNA	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2	285						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding				0		Hepatocellular(16;0.00015)				TGCCGGATTTCGCATCCTTCT	0.622													T	461554	C	T	461554	2	4	23	1	0	0	0	0	0	0	0	1	4383	883	31	1		1	DECR2	16	461554	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	65245	461554	89893199	1209	21803											
WFIKKN1	117166	broad.mit.edu	37	chr16	683373	683373	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctctggcactacgacccGcagcggggcggctgcatgac	14	15	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:683373G>A	uc002cht.1	+	2	1205	c.963G>A	c.(961-963)CCG>CCA	p.P321P	WFIKKN1_uc002chs.1_3'UTR	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz	321	BPTI/Kunitz inhibitor 1.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity				0		Hepatocellular(780;0.00335)				ACTACGACCCGCAGCGGGGCG	0.726													A	683373	G	A	683373	2	1	23	1	0	0	0	0	0	0	0	1	17355	1074	38	1		1	WFIKKN1	16	683373	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	221819	683373	89671380	1210	21804											
BAIAP3	8938	broad.mit.edu	37	chr16	1394682	1394682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttctgctacagtgtgtaCgccagcctcttccacaggtg	10	13	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:1394682C>T	uc002clk.1	+	19	1845	c.1845C>T	c.(1843-1845)TAC>TAT	p.Y615Y	BAIAP3_uc002clj.2_Silent_p.Y597Y|BAIAP3_uc010uuz.1_Silent_p.Y580Y|BAIAP3_uc010uva.1_Silent_p.Y552Y|BAIAP3_uc010uvc.1_Silent_p.Y544Y	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	615					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				ACAGTGTGTACGCCAGCCTCT	0.647													T	1394682	C	T	1394682	2	4	23	1	0	0	0	0	0	0	0	1	1304	547	19	1		1	BAIAP3	16	1394682	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	711309	1394682	88960071	1211	21805											
GNPTG	84572	broad.mit.edu	37	chr16	1411874	1411874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgccatctgtgtccccaggTacaagtatgagttctgcccg	10	12	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:1411874T>C	uc002clm.2	+	5	270	c.235T>C	c.(235-237)TAC>CAC	p.Y79H		NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphotransferase, gamma	79	PRKCSH.					extracellular region|Golgi apparatus	protein binding			central_nervous_system(1)	1		Hepatocellular(780;0.0893)				TGTCCCCAGGTACAAGTATGA	0.652													C	1411874	T	C	1411874	3	2	23	1	0	0	0	0	1	0	0	0	6546	1652	57	3	253	3	GNPTG	16	1411874	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	17192	1411874	88942879	1212	21806											
TBL3	10607	broad.mit.edu	37	chr16	2024837	2024837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccacttccgaggctcgccCggtgtcgtgcagtgagttgg	14	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:2024837C>T	uc002cnu.1	+	6	555	c.453C>T	c.(451-453)CCC>CCT	p.P151P	TBL3_uc002cnv.1_Silent_p.P37P|TBL3_uc010bsb.1_5'UTR|TBL3_uc010bsc.1_Silent_p.P37P|TBL3_uc010uvt.1_5'Flank|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	151	WD 3.				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						GAGGCTCGCCCGGTGTCGTGC	0.682													T	2024837	C	T	2024837	2	4	23	1	0	0	0	0	0	0	0	1	15640	639	23	1		1	TBL3	16	2024837	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	612963	2024837	88329916	1213	21807											
PKD1	5310	broad.mit.edu	37	chr16	2163281	2163281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccgagccggcctccaccaCggggctgtacctctgcgggg	15	16	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:2163281C>T	uc002cos.1	-	12	3075	c.2866G>A	c.(2866-2868)GTG>ATG	p.V956M	PKD1_uc002cot.1_Missense_Mutation_p.V956M	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	956	Extracellular (Potential).|PKD 4.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						GCCTCCACCACGGGGCTGTAC	0.617													T	2163281	C	T	2163281	3	4	23	1	0	0	0	0	1	0	0	0	11963	536	19	1	10185	1	PKD1	16	2163281	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	138444	2163281	88191472	1214	21808											
ABCA3	21	broad.mit.edu	37	chr16	2347854	2347854	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccgtgagttccacttgtcCtccaggccgatgatgtgcag	11	13	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:2347854C>A	uc002cpy.1	-	16	2677	c.1965G>T	c.(1963-1965)GAG>GAT	p.E655D	ABCA3_uc010bsk.1_Missense_Mutation_p.E597D|ABCA3_uc010bsl.1_Missense_Mutation_p.E655D	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	655	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				TCCACTTGTCCTCCAGGCCGA	0.627													A	2347854	C	A	2347854	3	1	23	1	0	0	0	0	1	0	0	0	33	680	24	5	3221	5	ABCA3	16	2347854	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	184573	2347854	88006899	1215	21809											
ZNF174	7727	broad.mit.edu	37	chr16	3458393	3458393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaggagcaaagccatgtgCagtgtcagctggcagatcca	12	9	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:3458393C>T	uc002cvc.2	+	3	1513	c.698C>T	c.(697-699)GCA>GTA	p.A233V		NM_003450	NP_003441	Q15697	ZN174_HUMAN	zinc finger protein 174 isoform a	233					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0						AAGCCATGTGCAGTGTCAGCT	0.483													T	3458393	C	T	3458393	3	4	23	1	0	0	0	0	1	0	0	0	17741	710	25	2	792	2	ZNF174	16	3458393	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1110539	3458393	86896360	1216	21810											
BTBD12	84464	broad.mit.edu	37	chr16	3640516	3640516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccgcggggactcccgccCtggggaggccccaataggaa	15	15	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:3640516C>T	uc002cvp.2	-	12	3750	c.3123G>A	c.(3121-3123)CAG>CAA	p.Q1041Q		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1041	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						GACTCCCGCCCTGGGGAGGCC	0.672								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				T	3640516	C	T	3640516	2	4	23	1	0	0	0	0	0	0	0	1	1540	680	24	4		4	BTBD12	16	3640516	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	182123	3640516	86714237	1217	21811											
TRAP1	10131	broad.mit.edu	37	chr16	3736128	3736128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcattggagatcagctcccGtataaacacctacaggaata	9	10	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:3736128G>A	uc002cvt.3	-	4	429	c.340C>T	c.(340-342)CGG>TGG	p.R114W	TRAP1_uc010uxf.1_Missense_Mutation_p.R61W	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	114					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)				ATCAGCTCCCGTATAAACACC	0.478													A	3736128	G	A	3736128	3	1	23	1	0	0	0	0	1	0	0	0	16452	1144	40	1	1834	1	TRAP1	16	3736128	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	95612	3736128	86618625	1218	21812											
CREBBP	1387	broad.mit.edu	37	chr16	3777898	3777898	+	Frame_Shift_Del	DEL	G	G	-													ggtgactgcgagtccggggtGgggggaaccagtctggggtg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:3777897_3777897TG>T	uc002cvv.3	-	30	7355	c.7151_7151CA>A	c.(7150-7152)cacfs	p.H2384fs	CREBBP_uc002cvw.3_Frame_Shift_Del_p.H2346fs	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	2384					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.H2384Q(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GAGTCCGGGGTGGGGGGAACC	0.647			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						-	3777898	G	-	3777898	7	5	23	1	0	1	0	1	0	0	0	0	3861	1348	47	0	182	0	CREBBP	16	3777898	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	41770	3777898	86576855	1219	21813											
ADCY9	115	broad.mit.edu	37	chr16	4164370	4164370	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcgaggtggcatgcctcttGacagaattctcactctcctc	8	14	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:4164370G>A	uc002cvx.2	-	2	1613	c.1074C>T	c.(1072-1074)GTC>GTT	p.V358V		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	358	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						CATGCCTCTTGACAGAATTCT	0.468													A	4164370	G	A	4164370	2	1	23	1	0	0	0	0	0	0	0	1	301	1277	45	4		4	ADCY9	16	4164370	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	386472	4164370	86190383	1220	21814											
CORO7	79585	broad.mit.edu	37	chr16	4410338	4410338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccagacaatgcgagctccGcgtcctcccttgggccctgg	11	17	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:4410338G>A	uc002cwh.3	-	21	2169	c.2049C>T	c.(2047-2049)CGC>CGT	p.R683R	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Silent_p.R683R|CORO7_uc002cwg.3_Silent_p.R463R|CORO7_uc010uxh.1_Silent_p.R665R|CORO7_uc010uxi.1_Silent_p.R598R|CORO7_uc002cwi.1_Silent_p.R463R	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	683						cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						TGCGAGCTCCGCGTCCTCCCT	0.617													A	4410338	G	A	4410338	2	1	23	1	0	0	0	0	0	0	0	1	3759	1074	38	1		1	CORO7	16	4410338	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	245968	4410338	85944415	1221	21815											
TXNDC11	51061	broad.mit.edu	37	chr16	11773386	11773386	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtggagcaggctgtgctGctcttccagggcccgctgct	15	13	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:11773386G>T	uc010buu.1	-	13	2685	c.2623C>A	c.(2623-2625)CAG>AAG	p.Q875K	TXNDC11_uc002dbg.1_Missense_Mutation_p.Q848K	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	875	Potential.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						AGGCTGTGCTGCTCTTCCAGG	0.657													T	11773386	G	T	11773386	3	4	23	1	0	0	0	0	1	0	0	0	16789	1328	46	5	338	5	TXNDC11	16	11773386	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	7363048	11773386	78581367	1222	21816											
TMC7	79905	broad.mit.edu	37	chr16	19051753	19051753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctccaggctttgagatccGtctgacaatccttaggtaat	8	10	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:19051753G>A	uc002dfq.2	+	9	1452	c.1322G>A	c.(1321-1323)CGT>CAT	p.R441H	TMC7_uc010vao.1_3'UTR|TMC7_uc002dfp.2_Missense_Mutation_p.R441H|TMC7_uc010vap.1_Missense_Mutation_p.R331H	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7 isoform a	441	Cytoplasmic (Potential).					integral to membrane				skin(2)|ovary(1)	3						TTTGAGATCCGTCTGACAATC	0.284													A	19051753	G	A	19051753	3	1	23	1	0	0	0	0	1	0	0	0	15987	1145	40	1	1356	1	TMC7	16	19051753	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	7278367	19051753	71303000	1223	21817											
GPRC5B	51704	broad.mit.edu	37	chr16	19883732	19883732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaccagcctccgcacgcGccatgcctggctcagcaggc	11	20	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:19883732G>A	uc002dgt.2	-	2	544	c.436C>T	c.(436-438)CGC>TGC	p.R146C	GPRC5B_uc010vav.1_Missense_Mutation_p.R172C	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5,	146	Helical; Name=3; (Potential).									lung(1)|breast(1)|skin(1)	3						CTCCGCACGCGCCATGCCTGG	0.667													A	19883732	G	A	19883732	3	1	23	1	0	0	0	0	1	0	0	0	6725	1087	38	1	787	1	GPRC5B	16	19883732	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	831979	19883732	70471021	1224	21818											
DNAH3	55567	broad.mit.edu	37	chr16	21170726	21170726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcccggatggggaggggCggccagtgtgagctcgaggc	22	9	0	1	rs150677996	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:21170726C>T	uc010vbe.1	-	1	37	c.37G>A	c.(37-39)GCC>ACC	p.A13T	TMEM159_uc002dif.3_Intron|TMEM159_uc002dig.3_Intron|TMEM159_uc010vbf.1_Intron|TMEM159_uc002dih.3_Intron	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	13	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TGGGGAGGGGCGGCCAGTGTG	0.632													T	21170726	C	T	21170726	3	4	23	1	0	0	0	0	1	0	0	0	4603	768	27	1	12560	1	DNAH3	16	21170726	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1286994	21170726	69184027	1225	21819											
ZP2	7783	broad.mit.edu	37	chr16	21216851	21216851	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcagggtcagagtttTggctcttgcaccatcaccaa	10	12	4	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:21216851T>G	uc002dii.2	-	7	583	c.583A>C	c.(583-585)AAA>CAA	p.K195Q	ZP2_uc010bwn.1_Missense_Mutation_p.K234Q|ZP2_uc010bwo.2_Missense_Mutation_p.K234Q	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	195	Extracellular (Potential).				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(48;0.0573)		GTCAGAGTTTTGGCTCTTGCA	0.507													G	21216851	T	G	21216851	3	3	23	1	0	0	0	0	1	0	0	0	18213	1821	63	5	1706	5	ZP2	16	21216851	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	46125	21216851	69137902	1226	21820											
EEF2K	29904	broad.mit.edu	37	chr16	22291646	22291646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatgctggccagggaggccGagatgctgttcacaggaggc	17	9	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:22291646G>A	uc002dki.2	+	17	2502	c.2017G>A	c.(2017-2019)GAG>AAG	p.E673K	EEF2K_uc002dkh.2_RNA	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	673					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(48;0.0223)		CAGGGAGGCCGAGATGCTGTT	0.637													A	22291646	G	A	22291646	3	1	23	1	0	0	0	0	1	0	0	0	4930	1059	37	1	2079	1	EEF2K	16	22291646	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1074795	22291646	68063107	1227	21821											
USP31	57478	broad.mit.edu	37	chr16	23091344	23091344	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatgtagtcctcagggtccCtcccgagtccatagggccgt	12	13	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:23091344C>A	uc002dll.2	-	13	2099	c.2099G>T	c.(2098-2100)AGG>ATG	p.R700M	USP31_uc010bxm.2_Missense_Mutation_p.G5W	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	700					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		CTCAGGGTCCCTCCCGAGTCC	0.582													A	23091344	C	A	23091344	3	1	23	1	0	0	0	0	1	0	0	0	17059	681	24	5	1975	5	USP31	16	23091344	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	799698	23091344	67263409	1228	21822											
COG7	91949	broad.mit.edu	37	chr16	23444982	23444982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgccaggctgctaaaaGctgcacctgcagagacagaa	10	12	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:23444982G>A	uc002dlo.2	-	6	882	c.694C>T	c.(694-696)CTT>TTT	p.L232F		NM_153603	NP_705831	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	232					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0				GBM - Glioblastoma multiforme(48;0.0401)		GCTGCTAAAAGCTGCACCTGC	0.527													A	23444982	G	A	23444982	3	1	23	1	0	0	0	0	1	0	0	0	3663	971	34	2	1666	2	COG7	16	23444982	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	353638	23444982	66909771	1229	21823											
PALB2	79728	broad.mit.edu	37	chr16	23637590	23637590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtataaagtttttcccaCtgccaagcatccagagcttt	7	11	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:23637590C>T	uc002dlx.1	-	7	2915	c.2715G>A	c.(2713-2715)CAG>CAA	p.Q905Q		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	905	Interaction with RAD51 and BRCA2.|WD 1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11				GBM - Glioblastoma multiforme(48;0.0167)		GTTTTTCCCACTGCCAAGCAT	0.458			F|N|Mis			Wilms tumor|medulloblastoma|AML ,breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of				T	23637590	C	T	23637590	2	4	23	1	0	0	0	0	0	0	0	1	11406	564	20	4		4	PALB2	16	23637590	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	192608	23637590	66717163	1230	21824											
TNRC6A	27327	broad.mit.edu	37	chr16	24762058	24762060	+	In_Frame_Del	DEL	AAG	AAG	-													gtggttcagggatttagtgcAagaagaagaacagttgatgg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:24762057_24762059CAAG>C	uc002dmm.3	+	2	178_180	c.64_66CAAG>C	c.(64-66)caa>C	p.Q22del		NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	22					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GGATTTAGTGCaagaagaagaac	0.31													-	24762060	AAG	-	24762058	7	5	23	1	0	1	0	1	0	0	0	0	16337	130	5	0	75	0	TNRC6A	16	24762058	In_Frame_Del	DEL	AAG	TCGA-BR-4368-01A-01D-1158-08	1124468	24762058	65592695	1231	21825											
LCMT1	51451	broad.mit.edu	37	chr16	25123281	25123281	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgacgcagacgacgagggcgTgcgcggcacctgcgaagatg	17	12	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:25123281T>C	uc002dnx.1	+	1	235	c.77T>C	c.(76-78)GTG>GCG	p.V26A	LCMT1_uc002dny.1_Missense_Mutation_p.V26A|LCMT1_uc002dnz.1_5'UTR|LCMT1_uc002doa.1_5'UTR|LCMT1_uc002dnw.1_RNA	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1 isoform a	26							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity				0				GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GACGAGGGCGTGCGCGGCACC	0.687													C	25123281	T	C	25123281	3	2	23	1	0	0	0	0	1	0	0	0	8678	1696	59	3	79	3	LCMT1	16	25123281	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	361223	25123281	65231472	1232	21826											
GTF3C1	2975	broad.mit.edu	37	chr16	27556722	27556722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcctctccttaaagtagCggcatgagccctggatgcca	9	12	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:27556722C>T	uc002dov.1	-	2	384	c.344G>A	c.(343-345)CGC>CAC	p.R115H	GTF3C1_uc002dou.2_Missense_Mutation_p.R115H	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	115						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CTTAAAGTAGCGGCATGAGCC	0.468													T	27556722	C	T	27556722	3	4	23	1	0	0	0	0	1	0	0	0	6872	768	27	1	6129	1	GTF3C1	16	27556722	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2433441	27556722	62798031	1233	21827											
CD19	930	broad.mit.edu	37	chr16	28946835	28946835	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actttggcttatctgatcttCtgcctgtgttcccttgtggg	10	10	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:28946835C>T	uc002drs.2	+	5	968	c.906C>T	c.(904-906)TTC>TTT	p.F302F	uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.F302F	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen precursor	302	Helical; (Potential).				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3						ATCTGATCTTCTGCCTGTGTT	0.542													T	28946835	C	T	28946835	2	4	23	1	0	0	0	0	0	0	0	1	2973	912	32	4		4	CD19	16	28946835	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1390113	28946835	61407918	1234	21828											
C16orf93	90835	broad.mit.edu	37	chr16	30768963	30768963	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgatgtaggctcggaggAcgtggatgtggcctgcaggg	18	7	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:30768963A>G	uc002dzm.2	-	9	1161	c.830T>C	c.(829-831)GTC>GCC	p.V277A	C16orf93_uc002dzn.2_Missense_Mutation_p.V342A|C16orf93_uc002dzo.2_Missense_Mutation_p.V240A	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN	hypothetical protein LOC90835	277											0						GGCTCGGAGGACGTGGATGTG	0.617													G	30768963	A	G	30768963	3	3	23	1	0	0	0	0	1	0	0	0	1846	275	10	3	169	3	C16orf93	16	30768963	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	1822128	30768963	59585790	1235	21829											
RNF40	9810	broad.mit.edu	37	chr16	30780556	30780556	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgacaggtcaggcttttgAggacatgcaggaacagaacg	14	7	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:30780556A>G	uc002dzq.2	+	16	2420	c.2297A>G	c.(2296-2298)GAG>GGG	p.E766G	RNF40_uc010caa.2_Missense_Mutation_p.E766G|RNF40_uc010cab.2_Missense_Mutation_p.E666G|RNF40_uc010vfa.1_Missense_Mutation_p.E98G|RNF40_uc002dzr.2_Missense_Mutation_p.E766G|RNF40_uc010vfb.1_Missense_Mutation_p.E458G|RNF40_uc010vfc.1_Missense_Mutation_p.E98G	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	766	Potential.				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)			CAGGCTTTTGAGGACATGCAG	0.537													G	30780556	A	G	30780556	3	3	23	1	0	0	0	0	1	0	0	0	13493	304	11	3	2355	3	RNF40	16	30780556	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	11593	30780556	59574197	1236	21830											
SETD1A	9739	broad.mit.edu	37	chr16	30990956	30990956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaggccacagagacatcGgacgaggccgagcgccctag	14	13	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:30990956G>A	uc002ead.1	+	14	4535	c.3849G>A	c.(3847-3849)TCG>TCA	p.S1283S		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						CAGAGACATCGGACGAGGCCG	0.711													A	30990956	G	A	30990956	2	1	23	1	0	0	0	0	0	0	0	1	14130	1103	39	1		1	SETD1A	16	30990956	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	210400	30990956	59363797	1237	21831											
HSD3B7	80270	broad.mit.edu	37	chr16	30999231	30999231	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggagttcctgggcccctgCggactgcggctggtgggcgc	18	12	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:30999231C>T	uc002eaf.2	+	7	943	c.837C>T	c.(835-837)TGC>TGT	p.C279C	HSD3B7_uc010cac.2_3'UTR|HSD3B7_uc002eag.2_3'UTR|HSD3B7_uc002eah.2_Silent_p.C279C	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta-	279					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity				0						TGGGCCCCTGCGGACTGCGGC	0.642													T	30999231	C	T	30999231	2	4	23	1	0	0	0	0	0	0	0	1	7392	776	27	1		1	HSD3B7	16	30999231	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	8275	30999231	59355522	1238	21832											
ZNF668	79759	broad.mit.edu	37	chr16	31073185	31073185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggccagagtgcaccagcGcgtgccgcttgaggtcccag	15	14	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:31073185G>A	uc010caf.2	-	3	1421	c.1064C>T	c.(1063-1065)GCG>GTG	p.A355V	ZNF668_uc002eao.2_Missense_Mutation_p.A355V	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	355	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4						GTGCACCAGCGCGTGCCGCTT	0.682													A	31073185	G	A	31073185	3	1	23	1	0	0	0	0	1	0	0	0	18072	1087	38	1	799	1	ZNF668	16	31073185	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	73954	31073185	59281568	1239	21833											
PYCARD	29108	broad.mit.edu	37	chr16	31212940	31212941	+	Frame_Shift_Del	DEL	TG	TG	-													ggtcctccaccaggtaggacTgggactcccttagggcctgg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:31212940_31212941delTG	uc010cak.2	-	3	793_794	c.553_554delCA	c.(553-555)CAGfs	p.Q185fs	PYCARD_uc002ebm.2_Frame_Shift_Del_p.Q166fs	NM_013258	NP_037390	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing isoform a	185	CARD.				induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding				0						CAGGTAGGACTGGGACTCCCTT	0.589													-	31212941	TG	-	31212940	7	5	23	1	0	1	0	1	0	0	0	0	12854	1580	55	0	37	0	PYCARD	16	31212940	Frame_Shift_Del	DEL	TG	TCGA-BR-4368-01A-01D-1158-08	139755	31212940	59141813	1240	21834											
ITGAM	3684	broad.mit.edu	37	chr16	31336659	31336659	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaatgatggtgaggactcCtacaggacacaggtcacctt	11	9	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:31336659C>A	uc002ebq.2	+	20	2537	c.2439C>A	c.(2437-2439)TCC>TCA	p.S813S	ITGAM_uc002ebr.2_Silent_p.S814S|ITGAM_uc010can.2_Silent_p.S219S|ITGAM_uc002ebs.1_Silent_p.S219S|ITGAM_uc010vfj.1_RNA	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	813	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						GTGAGGACTCCTACAGGACAC	0.577													A	31336659	C	A	31336659	2	1	23	1	0	0	0	0	0	0	0	1	7887	668	24	5		5	ITGAM	16	31336659	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	123719	31336659	59018094	1241	21835											
ITGAD	3681	broad.mit.edu	37	chr16	31422507	31422507	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tatgagcagacccgagggggCcaggtgtccgtgtgtccctt	15	11	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:31422507C>G	uc002ebv.1	+	13	1516	c.1467C>G	c.(1465-1467)GGC>GGG	p.G489G	ITGAD_uc010cap.1_Silent_p.G489G	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	489	Extracellular (Potential).|FG-GAP 5.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						CCCGAGGGGGCCAGGTGTCCG	0.642													G	31422507	C	G	31422507	2	3	23	1	0	0	0	0	0	0	0	1	7884	726	26	5		5	ITGAD	16	31422507	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	85848	31422507	58932246	1242	21836											
ZNF267	10308	broad.mit.edu	37	chr16	31926819	31926819	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagaatgtggcaaagccTttcgctgtagttcatacctt	9	8	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:31926819T>C	uc002ecs.3	+	4	1458	c.1249T>C	c.(1249-1251)TTT>CTT	p.F417L		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	417	C2H2-type 4.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						TGGCAAAGCCTTTCGCTGTAG	0.363													C	31926819	T	C	31926819	3	2	23	1	0	0	0	0	1	0	0	0	17803	1609	56	3	1263	3	ZNF267	16	31926819	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	504312	31926819	58427934	1243	21837											
NOD2	64127	broad.mit.edu	37	chr16	50744556	50744556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctatgatggagcagagaCgctctgcctggaggacatat	12	9	1	2	rs148516118	by1000genomes	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:50744556C>T	uc002egm.1	+	4	839	c.734C>T	c.(733-735)ACG>ATG	p.T245M	NOD2_uc010cbk.1_Missense_Mutation_p.T218M|NOD2_uc002egl.1_Missense_Mutation_p.T23M|NOD2_uc010cbl.1_Missense_Mutation_p.T23M|NOD2_uc010cbm.1_Missense_Mutation_p.T23M|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	245					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				GGAGCAGAGACGCTCTGCCTG	0.582													T	50744556	C	T	50744556	3	4	23	1	0	0	0	0	1	0	0	0	10517	536	19	1	748	1	NOD2	16	50744556	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	18817737	50744556	39610197	1244	21838											
CES7	221223	broad.mit.edu	37	chr16	55893467	55893467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaattcttaccataggcaGcaggaagccacactcgtggt	10	11	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:55893467G>A	uc002eip.2	-	8	1197	c.1048C>T	c.(1048-1050)CTG>TTG	p.L350L	CES7_uc002eio.2_Silent_p.L350L|CES7_uc002eiq.2_Silent_p.L111L|CES7_uc002eir.2_Silent_p.L244L	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	350						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		ACCATAGGCAGCAGGAAGCCA	0.463													A	55893467	G	A	55893467	2	1	23	1	0	0	0	0	0	0	0	1	3272	962	34	2		2	CES7	16	55893467	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	5148911	55893467	34461286	1245	21839											
OGFOD1	55239	broad.mit.edu	37	chr16	56485630	56485630	+	Frame_Shift_Del	DEL	A	A	-													ctgttacggaagaaaccttgAaaaagcaggtggctgaggcc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:56485629_56485629GA>G	uc002ejb.3	+	0	206	c.105_105GA>G	c.(103-105)ttgfs	p.L35fs	OGFOD1_uc002ejc.3_Intron|NUDT21_uc002eja.3_5'Flank	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN	Homo sapiens 2-oxoglutarate and iron-dependent oxygenase domain containing 1 (OGFOD1), mRNA.	35							L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	AAGAAACCTTGAAAAAGCAGG	0.627													-	56485630	A	-	56485630	7	5	23	1	0	1	0	1	0	0	0	0	10841	247	9	0	108	0	OGFOD1	16	56485630	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	592163	56485630	33869123	1246	21840											
GPR56	9289	broad.mit.edu	37	chr16	57689865	57689865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaaagtagccaacctcacGgagcccgtggtgctcacttt	9	14	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:57689865G>A	uc002emb.2	+	8	1270	c.978G>A	c.(976-978)ACG>ACA	p.T326T	GPR56_uc002elz.1_Silent_p.T156T|GPR56_uc002ema.1_Silent_p.T151T|GPR56_uc002emc.2_Silent_p.T326T|GPR56_uc002emf.2_Silent_p.T326T|GPR56_uc010vhs.1_Silent_p.T326T|GPR56_uc002emd.2_Silent_p.T326T|GPR56_uc002eme.2_Silent_p.T326T|GPR56_uc010vht.1_Silent_p.T331T|GPR56_uc002emg.3_Silent_p.T326T|GPR56_uc010vhu.1_Silent_p.T151T	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	326	Extracellular (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						CCAACCTCACGGAGCCCGTGG	0.567													A	57689865	G	A	57689865	2	1	23	1	0	0	0	0	0	0	0	1	6700	1103	39	1		1	GPR56	16	57689865	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1204235	57689865	32664888	1247	21841											
CCDC135	84229	broad.mit.edu	37	chr16	57731887	57731887	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctgagggagaaggtggAggaggaggaggaggccgagc	23	5	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:57731887A>T	uc002emi.2	+	2	115	c.26A>T	c.(25-27)GAG>GTG	p.E9V	CCDC135_uc002emj.2_Missense_Mutation_p.E9V|CCDC135_uc002emk.2_Missense_Mutation_p.E9V	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	9	Potential.					cytoplasm				central_nervous_system(1)	1						gagaaggtggaggaggaggag	0.448													T	57731887	A	T	57731887	3	4	23	1	0	0	0	0	1	0	0	0	2769	304	11	5	28	5	CCDC135	16	57731887	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	42022	57731887	32622866	1248	21842											
ZNF319	57567	broad.mit.edu	37	chr16	58031166	58031166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgctcggcgctgtgtgtgCgctcatgctgccgcaggtcc	15	15	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:58031166C>T	uc002emx.1	-	2	1627	c.1004G>A	c.(1003-1005)CGC>CAC	p.R335H		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	335	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCTGTGTGTGCGCTCATGCTG	0.682													T	58031166	C	T	58031166	3	4	23	1	0	0	0	0	1	0	0	0	17834	768	27	1	748	1	ZNF319	16	58031166	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	299279	58031166	32323587	1249	21843											
ZNF319	57567	broad.mit.edu	37	chr16	58031252	58031252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctccccacttggcgtgcaCgggtgctgcagcagctccga	13	16	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:58031252C>T	uc002emx.1	-	2	1541	c.918G>A	c.(916-918)CCG>CCA	p.P306P		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	306	C2H2-type 7; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTGGCGTGCACGGGTGCTGCA	0.672													T	58031252	C	T	58031252	2	4	23	1	0	0	0	0	0	0	0	1	17834	523	19	1		1	ZNF319	16	58031252	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	86	58031252	32323501	1250	21844											
DYNC1LI2	1783	broad.mit.edu	37	chr16	66776563	66776563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaatccacacgttgcagcGcgtgtgatctgagaaaacaa	10	10	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:66776563G>A	uc002eqb.1	-	4	338	c.307C>T	c.(307-309)CGC>TGC	p.R103C	DYNC1LI2_uc010vis.1_Intron|DYNC1LI2_uc010vit.1_Missense_Mutation_p.R103C|DYNC1LI2_uc010viu.1_Missense_Mutation_p.R64C	NM_006141	NP_006132	O43237	DC1L2_HUMAN	dynein, cytoplasmic, light intermediate	103					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|skin(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		ACGTTGCAGCGCGTGTGATCT	0.468													A	66776563	G	A	66776563	3	1	23	1	0	0	0	0	1	0	0	0	4845	1087	38	1	1211	1	DYNC1LI2	16	66776563	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	8745311	66776563	23578190	1251	21845											
CES2	8824	broad.mit.edu	37	chr16	66974560	66974560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtggcgtggccctcctgCccggcctcattgccagctca	12	16	2	1	rs147942040		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:66974560C>T	uc002eqr.2	+	5	1970	c.970C>T	c.(970-972)CCC>TCC	p.P324S	CES2_uc002eqq.2_Missense_Mutation_p.P324S|CES2_uc002eqs.2_Missense_Mutation_p.P167S	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	260					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GGCCCTCCTGCCCGGCCTCAT	0.617													T	66974560	C	T	66974560	3	4	23	1	0	0	0	0	1	0	0	0	3270	739	26	2	988	2	CES2	16	66974560	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	197997	66974560	23380193	1252	21846											
CES8	283848	broad.mit.edu	37	chr16	67037211	67037211	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagcacacagatcctggtaaActgcctgagggcactatcag	10	12	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:67037211A>T	uc002eqv.2	+	7	891	c.848A>T	c.(847-849)AAC>ATC	p.N283I	CES8_uc010vix.1_Missense_Mutation_p.N283I|CES8_uc002eqw.2_Missense_Mutation_p.N283I|CES8_uc002eqy.2_Missense_Mutation_p.N185I|CES8_uc002eqx.2_Missense_Mutation_p.N89I|CES8_uc010viy.1_Missense_Mutation_p.N189I|CES8_uc010viz.1_Missense_Mutation_p.N185I|CES8_uc002eqz.2_5'Flank	NM_173815	NP_776176	Q5XG92	EST4A_HUMAN	carboxylesterase 8 (putative)	283						extracellular region	carboxylesterase activity				0						ATCCTGGTAAACTGCCTGAGG	0.547													T	67037211	A	T	67037211	3	4	23	1	0	0	0	0	1	0	0	0	3273	43	2	5	955	5	CES8	16	67037211	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	62651	67037211	23317542	1253	21847											
PLEKHG4	25894	broad.mit.edu	37	chr16	67320703	67320703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaggatgagtttgtggtgCgcactgggcgccacaagtcc	15	10	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:67320703C>T	uc002eso.3	+	16	5341	c.2806C>T	c.(2806-2808)CGC>TGC	p.R936C	PLEKHG4_uc002esp.3_Missense_Mutation_p.R743C|PLEKHG4_uc002esq.3_Missense_Mutation_p.R936C|PLEKHG4_uc010cef.2_Missense_Mutation_p.R936C|PLEKHG4_uc002ess.3_Missense_Mutation_p.R936C|PLEKHG4_uc010ceg.2_Missense_Mutation_p.R855C	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	936	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GTTTGTGGTGCGCACTGGGCG	0.597													T	67320703	C	T	67320703	3	4	23	1	0	0	0	0	1	0	0	0	12071	768	27	1	2868	1	PLEKHG4	16	67320703	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	283492	67320703	23034050	1254	21848											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67487596	67487596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagttaccataatcagtGctctgcagatgcagtttcaa	9	8	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:67487596G>A	uc002ete.1	-	2	253	c.153C>T	c.(151-153)AGC>AGT	p.S51S	ATP6V0D1_uc010vjo.1_Silent_p.S51S|ATP6V0D1_uc010vjn.1_5'UTR	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	51					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CATAATCAGTGCTCTGCAGAT	0.572													A	67487596	G	A	67487596	2	1	23	1	0	0	0	0	0	0	0	1	1173	1310	46	2		2	ATP6V0D1	16	67487596	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	166893	67487596	22867157	1255	21849											
DDX28	55794	broad.mit.edu	37	chr16	68056553	68056553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagagccgttgaagcagcgGcaggaggtagctgagagtct	16	8	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:68056553G>A	uc002evh.1	-	1	1407	c.553C>T	c.(553-555)CCG>TCG	p.P185S	DUS2L_uc002evi.2_5'Flank|DUS2L_uc002evj.2_5'Flank|DUS2L_uc010vkk.1_5'Flank	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	185	Helicase ATP-binding.|Nuclear export signal (Potential).					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TGAAGCAGCGGCAGGAGGTAG	0.627													A	68056553	G	A	68056553	3	1	23	1	0	0	0	0	1	0	0	0	4355	1203	42	2	1073	2	DDX28	16	68056553	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	568957	68056553	22298200	1256	21850											
DUS2L	54920	broad.mit.edu	37	chr16	68104958	68104958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggaacccatctatcttcCtcaaggagggtctgcggccc	11	13	4	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:68104958C>T	uc002evi.2	+	12	906	c.757C>T	c.(757-759)CTC>TTC	p.L253F	DUS2L_uc002evj.2_Missense_Mutation_p.L253F|DUS2L_uc010vkk.1_Missense_Mutation_p.L218F|DUS2L_uc010cez.2_Missense_Mutation_p.L166F	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2-like, SMM1 homolog	253					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		ATCTATCTTCCTCAAGGAGGG	0.512													T	68104958	C	T	68104958	3	4	23	1	0	0	0	0	1	0	0	0	4806	681	24	4	795	4	DUS2L	16	68104958	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	48405	68104958	22249795	1257	21851											
SLC7A6	9057	broad.mit.edu	37	chr16	68321694	68321694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgtcaagtggggcacacGtgtgcaggacacgttcactt	12	10	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:68321694G>A	uc002evt.1	+	5	878	c.569G>A	c.(568-570)CGT>CAT	p.R190H	SLC7A6_uc010cfb.1_RNA|SLC7A6_uc002evu.1_Missense_Mutation_p.R190H|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_Intron	NM_001076785	NP_001070253	Q92536	YLAT2_HUMAN	solute carrier family 7 (cationic amino acid	190	Cytoplasmic (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		TGGGGCACACGTGTGCAGGAC	0.552													A	68321694	G	A	68321694	3	1	23	1	0	0	0	0	1	0	0	0	14701	1145	40	1	575	1	SLC7A6	16	68321694	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	216736	68321694	22033059	1258	21852											
AARS	16	broad.mit.edu	37	chr16	70303552	70303552	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttgtcaggccggccaccatCagccagtgccacagtgatgg	13	13	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:70303552C>T	uc002eyn.1	-	7	1041	c.931G>A	c.(931-933)GAT>AAT	p.D311N	AARS_uc010vlu.1_Missense_Mutation_p.D141N	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	311					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	CGGCCACCATCAGCCAGTGCC	0.572													T	70303552	C	T	70303552	3	4	23	1	0	0	0	0	1	0	0	0	19	826	29	4	2035	4	AARS	16	70303552	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1981858	70303552	20051201	1259	21853											
DDX19B	11269	broad.mit.edu	37	chr16	70363861	70363861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcgtgaggaagagaccctgGacaccatcaagcagtactat	11	10	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:70363861G>A	uc002eyo.2	+	9	1042	c.913G>A	c.(913-915)GAC>AAC	p.D305N	DDX19B_uc010vly.1_Missense_Mutation_p.D305N|DDX19A_uc002eys.2_Intron|DDX19B_uc010vlv.1_Missense_Mutation_p.D279N|DDX19B_uc010vlw.1_Missense_Mutation_p.D196N|DDX19B_uc002eyp.2_Missense_Mutation_p.D274N|DDX19B_uc002eyq.2_Missense_Mutation_p.D196N|DDX19B_uc002eyr.2_Missense_Mutation_p.D154N|DDX19B_uc010vlx.1_Missense_Mutation_p.D154N|uc002eyt.2_Intron	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform	305					mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			kidney(1)	1		Ovarian(137;0.0694)				AGAGACCCTGGACACCATCAA	0.517													A	70363861	G	A	70363861	3	1	23	1	0	0	0	0	1	0	0	0	4347	1174	41	4	947	4	DDX19B	16	70363861	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	60309	70363861	19990892	1260	21854											
IL34	146433	broad.mit.edu	37	chr16	70693979	70693979	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcccagagccctcattgcaGtatgcggccacccagctgta	10	15	1	1	rs145782768		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:70693979G>C	uc002ezh.1	+	6	1001	c.618G>C	c.(616-618)CAG>CAC	p.Q206H	IL34_uc002ezi.1_Missense_Mutation_p.Q205H	NM_152456	NP_689669	Q6ZMJ4	IL34_HUMAN	interleukin 34 precursor	206					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			central_nervous_system(1)|skin(1)	2						CCTCATTGCAGTATGCGGCCA	0.637													C	70693979	G	C	70693979	3	2	23	1	0	0	0	0	1	0	0	0	7694	1020	36	5	640	5	IL34	16	70693979	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	330118	70693979	19660774	1261	21855											
FTSJD1	55783	broad.mit.edu	37	chr16	71317774	71317774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaacacatagcaggactgCgcaggtcctcaggggatcag	12	12	2	0	rs148258352	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:71317774C>T	uc010cga.2	-	3	2456	c.2050G>A	c.(2050-2052)GCA>ACA	p.A684T	FTSJD1_uc002ezy.3_Missense_Mutation_p.A684T|FTSJD1_uc002ezz.3_Missense_Mutation_p.A684T	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN	FtsJ methyltransferase domain containing 1	684						integral to membrane	methyltransferase activity|nucleic acid binding			skin(1)	1						AGCAGGACTGCGCAGGTCCTC	0.433													T	71317774	C	T	71317774	3	4	23	1	0	0	0	0	1	0	0	0	6090	768	27	1	266	1	FTSJD1	16	71317774	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	623795	71317774	19036979	1262	21856											
ZNF821	55565	broad.mit.edu	37	chr16	71894461	71894461	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgcacacaagcagaatTccagcagggtacactggagg	12	9	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:71894461T>C	uc010vmj.1	-	7	1075	c.699A>G	c.(697-699)GGA>GGG	p.G233G	ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.2_Silent_p.G83G|ZNF821_uc002fbf.2_Silent_p.G191G|ZNF821_uc002fbg.3_Silent_p.G83G|ZNF821_uc002fbh.3_Silent_p.G191G|ZNF821_uc002fbi.3_Silent_p.G30G	NM_017530	NP_060000	O75541	ZN821_HUMAN	zinc finger protein 821	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CAAGCAGAATTCCAGCAGGGT	0.517													C	71894461	T	C	71894461	2	2	23	1	0	0	0	0	0	0	0	1	18175	1770	62	3		3	ZNF821	16	71894461	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	576687	71894461	18460292	1263	21857											
ZFHX3	463	broad.mit.edu	37	chr16	72822157	72822157	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggctgtaggggaacaggcCttccatgccatacataggct	13	10	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:72822157C>A	uc002fck.2	-	10	10691	c.10018G>T	c.(10018-10020)GGC>TGC	p.G3340C	ZFHX3_uc002fcl.2_Missense_Mutation_p.G2426C	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3340					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GGGAACAGGCCTTCCATGCCA	0.582													A	72822157	C	A	72822157	3	1	23	1	0	0	0	0	1	0	0	0	17631	681	24	5	1097	5	ZFHX3	16	72822157	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	927696	72822157	17532596	1264	21858											
ZFHX3	463	broad.mit.edu	37	chr16	72828501	72828501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcctttcctttcccgagCtcgggtgttctgaaaccaga	9	13	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:72828501C>T	uc002fck.2	-	9	8753	c.8080G>A	c.(8080-8082)GCT>ACT	p.A2694T	ZFHX3_uc002fcl.2_Missense_Mutation_p.A1780T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	2694	Homeobox 3.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				CTTTCCCGAGCTCGGGTGTTC	0.532													T	72828501	C	T	72828501	3	4	23	1	0	0	0	0	1	0	0	0	17631	797	28	2	3039	2	ZFHX3	16	72828501	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	6344	72828501	17526252	1265	21859											
WWOX	51741	broad.mit.edu	37	chr16	78466573	78466573	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgcatcctggaaatatgaTgtactccaacattcatcgca	7	10	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:78466573T>C	uc002ffk.2	+	8	1105	c.980T>C	c.(979-981)ATG>ACG	p.M327T	WWOX_uc010vnk.1_Missense_Mutation_p.M214T|WWOX_uc002ffl.2_Intron|WWOX_uc010che.2_Intron	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	WW domain-containing oxidoreductase isoform 1	327	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity				0		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		GGAAATATGATGTACTCCAAC	0.557													C	78466573	T	C	78466573	3	2	23	1	0	0	0	0	1	0	0	0	17411	1464	51	3	1072	3	WWOX	16	78466573	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	5638072	78466573	11888180	1266	21860											
HSDL1	83693	broad.mit.edu	37	chr16	84163662	84163662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagagatcgtgacgatggCacctttctttctctccacca	8	12	2	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:84163662C>T	uc002fhk.2	-	4	779	c.595G>A	c.(595-597)GCC>ACC	p.A199T	HSDL1_uc010vnv.1_Missense_Mutation_p.A144T	NM_031463	NP_113651	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1 isoform a	199						mitochondrion	oxidoreductase activity|protein binding				0						GTGACGATGGCACCTTTCTTT	0.488													T	84163662	C	T	84163662	3	4	23	1	0	0	0	0	1	0	0	0	7393	710	25	2	409	2	HSDL1	16	84163662	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	5697089	84163662	6191091	1267	21861											
USP10	9100	broad.mit.edu	37	chr16	84806187	84806187	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactctggaaaaactccctcCtgtcctcgtgctgcacctga	8	15	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:84806187C>A	uc002fii.2	+	12	2181	c.2039C>A	c.(2038-2040)CCT>CAT	p.P680H	USP10_uc010voe.1_Missense_Mutation_p.P684H|USP10_uc010vof.1_Missense_Mutation_p.P242H|USP10_uc002fij.2_Missense_Mutation_p.P206H	NM_005153	NP_005144	Q14694	UBP10_HUMAN	ubiquitin specific protease 10	680					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						AAACTCCCTCCTGTCCTCGTG	0.453													A	84806187	C	A	84806187	3	1	23	1	0	0	0	0	1	0	0	0	17038	681	24	5	2085	5	USP10	16	84806187	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	642525	84806187	5548566	1268	21862											
KIAA0182	23199	broad.mit.edu	37	chr16	85701834	85701834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgcagtcctccagccgCgcccctccaccccagcacaa	8	21	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:85701834C>T	uc002fix.2	+	14	3293	c.3219C>T	c.(3217-3219)CGC>CGT	p.R1073R	KIAA0182_uc002fiw.2_Silent_p.R969R|KIAA0182_uc002fiy.2_Silent_p.R1000R|KIAA0182_uc002fiz.2_Silent_p.R215R|KIAA0182_uc010cho.2_Silent_p.R253R	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	1073							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						CCTCCAGCCGCGCCCCTCCAC	0.592													T	85701834	C	T	85701834	2	4	23	1	0	0	0	0	0	0	0	1	8159	755	27	1		1	KIAA0182	16	85701834	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	895647	85701834	4652919	1269	21863											
ZFPM1	161882	broad.mit.edu	37	chr16	88599110	88599110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaggtgcacacggacacGctgagcggtaggcaccgcag	14	13	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:88599110G>A	uc002fkv.2	+	8	1068	c.1035G>A	c.(1033-1035)ACG>ACA	p.T345T		NM_153813	NP_722520	Q8IX07	FOG1_HUMAN	zinc finger protein, multitype 1	345					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0478)		ACACGGACACGCTGAGCGGTA	0.692													A	88599110	G	A	88599110	2	1	23	1	0	0	0	0	0	0	0	1	17654	1074	38	1		1	ZFPM1	16	88599110	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2897276	88599110	1755643	1270	21864											
CBFA2T3	863	broad.mit.edu	37	chr16	88952449	88952449	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggggaggaggcgctggcGtccagcaggagctgctcatg	19	9	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:88952449G>A	uc002fmm.1	-	6	999	c.813C>T	c.(811-813)GAC>GAT	p.D271D	CBFA2T3_uc002fml.1_Silent_p.D185D|CBFA2T3_uc010cif.1_Silent_p.D210D|CBFA2T3_uc002fmn.1_Silent_p.D246D	NM_005187	NP_005178	O75081	MTG16_HUMAN	myeloid translocation gene on chromosome 16	271	Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0275)		AGGCGCTGGCGTCCAGCAGGA	0.657			T	RUNX1	AML								A	88952449	G	A	88952449	2	1	23	1	0	0	0	0	0	0	0	1	2698	1136	40	1		1	CBFA2T3	16	88952449	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	353339	88952449	1402304	1271	21865											
ANKRD11	29123	broad.mit.edu	37	chr16	89349001	89349001	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctccaggaaggcagtcaGccccggctcctgccctcggt	12	17	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:89349001G>A	uc002fmx.1	-	9	4410	c.3949C>T	c.(3949-3951)CTG>TTG	p.L1317L	ANKRD11_uc002fmy.1_Silent_p.L1317L|ANKRD11_uc002fnc.1_Silent_p.L1317L|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.L1274L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1317	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AAGGCAGTCAGCCCCGGCTCC	0.582													A	89349001	G	A	89349001	2	1	23	1	0	0	0	0	0	0	0	1	639	962	34	2		2	ANKRD11	16	89349001	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	396552	89349001	1005752	1272	21866											
ANKRD11	29123	broad.mit.edu	37	chr16	89352509	89352509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggaggttcaccatcgtgGgggagttggccactttcagc	14	10	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:89352509G>A	uc002fmx.1	-	8	1291	c.830C>T	c.(829-831)CCC>CTC	p.P277L	ANKRD11_uc002fmy.1_Missense_Mutation_p.P277L|ANKRD11_uc002fnc.1_Missense_Mutation_p.P277L|ANKRD11_uc002fnb.1_Missense_Mutation_p.P234L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	277	ANK 4.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CACCATCGTGGGGGAGTTGGC	0.577													A	89352509	G	A	89352509	3	1	23	1	0	0	0	0	1	0	0	0	639	1232	43	4	7185	4	ANKRD11	16	89352509	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3508	89352509	1002244	1273	21867											
SPATA2L	124044	broad.mit.edu	37	chr16	89763857	89763857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagtggcctggacggcagGcgggcagggctgcacagtgg	21	10	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:89763857G>A	uc002foj.2	-	3	1225	c.1160C>T	c.(1159-1161)GCC>GTC	p.A387V	SPATA2L_uc002fok.2_Intron	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	387											0		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		TGGACGGCAGGCGGGCAGGGC	0.687													A	89763857	G	A	89763857	3	1	23	1	0	0	0	0	1	0	0	0	15008	1203	42	2	118	2	SPATA2L	16	89763857	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	411348	89763857	590896	1274	21868											
C16orf7	9605	broad.mit.edu	37	chr16	89777784	89777784	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtgacaggtcccccggatTcctcttgagcttggccttcc	11	14	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:89777784T>C	uc002fom.1	-	9	909	c.784A>G	c.(784-786)AAT>GAT	p.N262D	C16orf7_uc002fol.1_Missense_Mutation_p.N192D|uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	262					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TCCCCCGGATTCCTCTTGAGC	0.662													C	89777784	T	C	89777784	3	2	23	1	0	0	0	0	1	0	0	0	1828	1783	62	3	1139	3	C16orf7	16	89777784	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	13927	89777784	576969	1275	21869											
TCF25	22980	broad.mit.edu	37	chr16	89970558	89970558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcgagtcttgcagtgtgCggcccgacgccagcgtttcc	13	14	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:89970558C>T	uc002fpb.2	+	13	1496	c.1414C>T	c.(1414-1416)CGG>TGG	p.R472W	TCF25_uc002fpc.2_Missense_Mutation_p.R237W|TCF25_uc002fpd.1_5'UTR	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	NULP1	472					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TTGCAGTGTGCGGCCCGACGC	0.517													T	89970558	C	T	89970558	3	4	23	1	0	0	0	0	1	0	0	0	15690	759	27	1	1464	1	TCF25	16	89970558	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	192774	89970558	384195	1276	21870											
TUBB3	10381	broad.mit.edu	37	chr16	90001975	90001975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttcatcgggaacagcacGgccatccaggagctgttcaa	10	13	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:90001975G>A	uc002fph.1	+	4	1181	c.1116G>A	c.(1114-1116)ACG>ACA	p.T372T	TUBB3_uc002fpf.2_Silent_p.T719T|TUBB3_uc010ciz.1_Silent_p.T300T|TUBB3_uc002fpg.1_Silent_p.T226T|TUBB3_uc002fpi.1_Silent_p.T300T|TUBB3_uc002fpj.1_Silent_p.T300T|TUBB3_uc010cjb.1_Silent_p.T226T|TUBB3_uc002fpk.1_Silent_p.T226T	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	372					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGAACAGCACGGCCATCCAGG	0.622													A	90001975	G	A	90001975	2	1	23	1	0	0	0	0	0	0	0	1	16754	1103	39	1		1	TUBB3	16	90001975	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	31417	90001975	352778	1277	21871											
SLC43A2	124935	broad.mit.edu	37	chr17	1520045	1520045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgctgtgccgcccactGtgccattggtgacattctct	10	14	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:1520045G>A	uc002fsv.2	-	3	268	c.179C>T	c.(178-180)ACA>ATA	p.T60I	SLC43A2_uc002fsu.2_Missense_Mutation_p.T60I|SLC43A2_uc002fsw.2_Missense_Mutation_p.T60I|SLC43A2_uc002fsx.2_Missense_Mutation_p.T60I	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	solute carrier family 43, member 2	60					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GCCGCCCACTGTGCCATTGGT	0.577													A	1520045	G	A	1520045	3	1	23	1	0	0	0	0	1	0	0	0	14633	1377	48	4	1578	4	SLC43A2	17	1520045	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08		1520045	79675165	1278	21872											
PRPF8	10594	broad.mit.edu	37	chr17	1584919	1584919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggagctgattagccaggCggtagagagtcgacatcata	13	8	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:1584919C>T	uc002fte.2	-	6	833	c.719G>A	c.(718-720)CGC>CAC	p.R240H		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	240						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATTAGCCAGGCGGTAGAGAGT	0.468													T	1584919	C	T	1584919	3	4	23	1	0	0	0	0	1	0	0	0	12575	768	27	1	6440	1	PRPF8	17	1584919	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	64874	1584919	79610291	1279	21873											
SMG6	23293	broad.mit.edu	37	chr17	2203910	2203910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatagatttccagatctggaCgcctgttatctttgcgcggc	10	10	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:2203910C>T	uc002fub.1	-	2	192	c.137G>A	c.(136-138)CGT>CAT	p.R46H	SMG6_uc002fud.1_Missense_Mutation_p.R15H	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	46					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4						CAGATCTGGACGCCTGTTATC	0.448													T	2203910	C	T	2203910	3	4	23	1	0	0	0	0	1	0	0	0	14797	536	19	1	4194	1	SMG6	17	2203910	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	618991	2203910	78991300	1280	21874											
KIAA0664	23277	broad.mit.edu	37	chr17	2601713	2601713	+	Frame_Shift_Del	DEL	C	C	-													cgccacgtaggccgccacgtCccccccgaagtccttgtagt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:2601712_2601712TC>T	uc002fuy.1	-	9	1411	c.1325_1325GA>A	c.(1324-1326)gacfs	p.D442fs	KIAA0664_uc002fux.1_Frame_Shift_Del_p.D374fs	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	442							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						GGCCGCCACGTCCCCCCCGAA	0.622													-	2601713	C	-	2601713	7	5	23	1	0	1	0	1	0	0	0	0	8189	855	30	0	2673	0	KIAA0664	17	2601713	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	397803	2601713	78593497	1281	21875											
TRPV3	162514	broad.mit.edu	37	chr17	3436182	3436182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgctccatcagcagctgCacaatctcgggctggttggt	12	12	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:3436182C>T	uc002fvt.1	-	8	1156	c.834G>A	c.(832-834)GTG>GTA	p.V278V	TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Silent_p.V262V|TRPV3_uc010vri.1_Silent_p.V233V|TRPV3_uc010vrj.1_Silent_p.V262V|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Silent_p.V262V|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Silent_p.V278V|TRPV3_uc002fvu.2_Silent_p.V278V|TRPV3_uc010vrn.1_5'Flank	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	278	ANK 2.|Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	TCAGCAGCTGCACAATCTCGG	0.627													T	3436182	C	T	3436182	2	4	23	1	0	0	0	0	0	0	0	1	16594	697	25	2		2	TRPV3	17	3436182	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	834469	3436182	77759028	1282	21876											
ZZEF1	23140	broad.mit.edu	37	chr17	4020386	4020386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgctggagagccgattgcGgtgcaggaagcgcagtatca	16	10	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:4020386G>A	uc002fxe.2	-	3	638	c.574C>T	c.(574-576)CGC>TGC	p.R192C	ZZEF1_uc002fxk.1_Missense_Mutation_p.R192C	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	192							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						AGCCGATTGCGGTGCAGGAAG	0.502													A	4020386	G	A	4020386	3	1	23	1	0	0	0	0	1	0	0	0	18252	1116	39	1	8523	1	ZZEF1	17	4020386	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	584204	4020386	77174824	1283	21877											
SPAG7	9552	broad.mit.edu	37	chr17	4862892	4862892	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcttggctctgatctcattCatagcctcttcaatggagcg	8	11	6	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:4862892C>T	uc002gae.2	-	7	654	c.621G>A	c.(619-621)ATG>ATA	p.M207I	SPAG7_uc002gad.2_Missense_Mutation_p.M156I|SPAG7_uc002gaf.2_3'UTR	NM_004890	NP_004881	O75391	SPAG7_HUMAN	sperm associated antigen 7	207						nucleus	nucleic acid binding|protein binding			ovary(1)|central_nervous_system(1)	2						TGATCTCATTCATAGCCTCTT	0.622													T	4862892	C	T	4862892	3	4	23	1	0	0	0	0	1	0	0	0	14983	826	29	4	66	4	SPAG7	17	4862892	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	842506	4862892	76332318	1284	21878											
ZFP3	124961	broad.mit.edu	37	chr17	4995874	4995874	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttattagacatattagaattCatactggtgagaagccctat	7	6	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:4995874C>T	uc002gaq.2	+	2	1200	c.1075C>T	c.(1075-1077)CAT>TAT	p.H359Y		NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN	zinc finger protein-3	359	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TATTAGAATTCATACTGGTGA	0.423													T	4995874	C	T	4995874	3	4	23	1	0	0	0	0	1	0	0	0	17640	826	29	4	1077	4	ZFP3	17	4995874	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	132982	4995874	76199336	1285	21879											
USP6	9098	broad.mit.edu	37	chr17	5050419	5050419	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtacaactctcagtgagCggatttttgtgtgcatttga	10	6	1	2	rs147105926	by1000genomes	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:5050419C>T	uc002gau.1	+	29	4591	c.2361C>T	c.(2359-2361)AGC>AGT	p.S787S	USP6_uc002gav.1_Silent_p.S787S|USP6_uc010ckz.1_Silent_p.S470S	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	787					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						TCTCAGTGAGCGGATTTTTGT	0.393			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								T	5050419	C	T	5050419	2	4	23	1	0	0	0	0	0	0	0	1	17083	767	27	1		1	USP6	17	5050419	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	54545	5050419	76144791	1286	21880											
PHF23	79142	broad.mit.edu	37	chr17	7139893	7139893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtcgggggcctgcagaCgagagaaagtggaccttggg	17	9	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:7139893C>T	uc002gfa.2	-	4	580	c.353G>A	c.(352-354)CGT>CAT	p.R118H	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Intron|PHF23_uc010cma.2_5'UTR	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	118							zinc ion binding				0						GGCCTGCAGACGAGAGAAAGT	0.542													T	7139893	C	T	7139893	3	4	23	1	0	0	0	0	1	0	0	0	11835	536	19	1	866	1	PHF23	17	7139893	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2089474	7139893	74055317	1287	21881											
PHF23	79142	broad.mit.edu	37	chr17	7140733	7140733	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggggaatgtaaccagcatAtgccaaaacaaaactgcaga	10	8	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:7140733A>G	uc002gfa.2	-	3	357	c.130T>C	c.(130-132)TAT>CAT	p.Y44H	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Missense_Mutation_p.Y44H|PHF23_uc010cma.2_5'UTR	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	44							zinc ion binding				0						TAACCAGCATATGCCAAAACA	0.453													G	7140733	A	G	7140733	3	3	23	1	0	0	0	0	1	0	0	0	11835	449	16	3	1093	3	PHF23	17	7140733	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	840	7140733	74054477	1288	21882											
TNK1	8711	broad.mit.edu	37	chr17	7291907	7291907	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctagggagaggcttcccTggcccaaaagaaaaccccca	9	15	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:7291907T>C	uc002ggi.3	+	11	1835	c.1675T>C	c.(1675-1677)TGG>CGG	p.W559R	TNK1_uc002ggj.3_Missense_Mutation_p.W554R|TNK1_uc010cmf.2_RNA|TNK1_uc002ggk.3_Intron	NM_003985	NP_003976	Q13470	TNK1_HUMAN	tyrosine kinase, non-receptor, 1	559	Pro-rich.				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(122;0.157)				GAGGCTTCCCTGGCCCAAAAG	0.622													C	7291907	T	C	7291907	3	2	23	1	0	0	0	0	1	0	0	0	16314	1580	55	3	1698	3	TNK1	17	7291907	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	151174	7291907	73903303	1289	21883											
SENP3	26168	broad.mit.edu	37	chr17	7466947	7466947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccatccccctgttgtcGttttgactccccccgggggc	12	16	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:7466947G>A	uc002ghm.2	+	2	827	c.554G>A	c.(553-555)CGT>CAT	p.R185H	EIF4A1_uc002gho.1_5'Flank|SENP3_uc002ghn.1_5'Flank	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific protease 3	185					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			ovary(1)|central_nervous_system(1)	2		Prostate(122;0.157)				CCCTGTTGTCGTTTTGACTCC	0.562													A	7466947	G	A	7466947	3	1	23	1	0	0	0	0	1	0	0	0	14048	1145	40	1	556	1	SENP3	17	7466947	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	175040	7466947	73728263	1290	21884											
DNAH2	146754	broad.mit.edu	37	chr17	7644225	7644225	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaacggaacaagaaatggcCagacctggagccctacgtgg	13	10	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:7644225C>A	uc002giu.1	+	10	1618	c.1604C>A	c.(1603-1605)CCA>CAA	p.P535Q	DNAH2_uc002git.2_Missense_Mutation_p.P617Q|DNAH2_uc010vuk.1_Missense_Mutation_p.P535Q	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	535	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AAGAAATGGCCAGACCTGGAG	0.572													A	7644225	C	A	7644225	3	1	23	1	0	0	0	0	1	0	0	0	4602	594	21	5	1642	5	DNAH2	17	7644225	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	177278	7644225	73550985	1291	21885											
SLC25A35	399512	broad.mit.edu	37	chr17	8194159	8194159	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcccagagcacttccttaCcttgccctgtgcatctgtgg	8	15	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:8194159C>T	uc002gla.3	-	4	774	c.729_splice	c.e4+1	p.K243_splice	SLC25A35_uc002gku.1_Splice_Site_p.K243_splice|SLC25A35_uc002gkt.2_Splice_Site_p.K243_splice|SLC25A35_uc002gkz.1_Splice_Site	NM_201520	NP_958928	Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35						transport	integral to membrane|mitochondrial inner membrane					0						CACTTCCTTACCTTGCCCTGT	0.587													T	8194159	C	T	8194159	5	4	23	1	0	0	0	0	0	0	1	0	14499	521	18	4	169	4	SLC25A35	17	8194159	Splice_Site	SNP	C	TCGA-BR-4368-01A-01D-1158-08	549934	8194159	73001051	1292	21886											
MYH10	4628	broad.mit.edu	37	chr17	8417117	8417117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctcacctttgtgaagactCgccaccactgccagtgccgt	9	15	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:8417117C>T	uc002gll.2	-	20	2603	c.2507G>A	c.(2506-2508)CGA>CAA	p.R836Q	MYH10_uc002glm.2_Missense_Mutation_p.R867Q|MYH10_uc010cnx.2_Missense_Mutation_p.R845Q	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	836					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						TGTGAAGACTCGCCACCACTG	0.488													T	8417117	C	T	8417117	3	4	23	1	0	0	0	0	1	0	0	0	10030	884	31	1	3511	1	MYH10	17	8417117	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	222958	8417117	72778093	1293	21887											
PIK3R6	146850	broad.mit.edu	37	chr17	8731436	8731436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtccagtcacctcaggcGccagcacggggatgtagtag	15	12	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:8731436G>A	uc002glq.1	-	12	1625	c.1385C>T	c.(1384-1386)GCG>GTG	p.A462V	PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	462					platelet activation	cytosol					0						CACCTCAGGCGCCAGCACGGG	0.587													A	8731436	G	A	8731436	3	1	23	1	0	0	0	0	1	0	0	0	11923	1087	38	1	914	1	PIK3R6	17	8731436	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	314319	8731436	72463774	1294	21888											
MYH13	8735	broad.mit.edu	37	chr17	10248525	10248525	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtatctctctaccttctcGatgagctcgatgcaggcagc	9	13	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:10248525G>A	uc002gmk.1	-	15	1668	c.1578C>T	c.(1576-1578)ATC>ATT	p.I526I	MYH13_uc010vvf.1_Silent_p.I201I	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	526	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						CTACCTTCTCGATGAGCTCGA	0.542													A	10248525	G	A	10248525	2	1	23	1	0	0	0	0	0	0	0	1	10032	1048	37	1		1	MYH13	17	10248525	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1517089	10248525	70946685	1295	21889											
C17orf48	56985	broad.mit.edu	37	chr17	10608264	10608264	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggatgataaacccaatccTgaagccctaagtgacagttc	8	10	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:10608264T>C	uc002gmt.2	+	2	96	c.21T>C	c.(19-21)CCT>CCC	p.P7P	C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA|C17orf48_uc010vvg.1_Silent_p.P7P	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol pyrophosphatase	7							ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding				0						AACCCAATCCTGAAGCCCTAA	0.363													C	10608264	T	C	10608264	2	2	23	1	0	0	0	0	0	0	0	1	1859	1567	55	3		3	C17orf48	17	10608264	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	359739	10608264	70586946	1296	21890											
DNAH9	1770	broad.mit.edu	37	chr17	11775045	11775045	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaccttggcttcttcacaaAgaaataccggcagagcctcc	7	14	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:11775045A>G	uc002gne.2	+	52	10252	c.10184A>G	c.(10183-10185)AAG>AGG	p.K3395R	DNAH9_uc010coo.2_Missense_Mutation_p.K2689R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3395					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTCTTCACAAAGAAATACCGG	0.408													G	11775045	A	G	11775045	3	3	23	1	0	0	0	0	1	0	0	0	4608	72	3	3	10390	3	DNAH9	17	11775045	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	1166781	11775045	69420165	1297	21891											
MYOCD	93649	broad.mit.edu	37	chr17	12639605	12639605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcgggatccccgccagaCgctaaagcctcagatacccc	9	17	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:12639605C>T	uc002gnn.2	+	6	842	c.543C>T	c.(541-543)GAC>GAT	p.D181D	MYOCD_uc002gno.2_Silent_p.D181D|MYOCD_uc002gnp.1_Silent_p.D85D	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	181	HDAC5-binding (By similarity).				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCCGCCAGACGCTAAAGCCT	0.488													T	12639605	C	T	12639605	2	4	23	1	0	0	0	0	0	0	0	1	10087	535	19	1		1	MYOCD	17	12639605	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	864560	12639605	68555605	1298	21892											
NCOR1	9611	broad.mit.edu	37	chr17	15935741	15935741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacatgcaatcggtgttgGtggagtactgctgagcatcc	13	9	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:15935741G>A	uc002gpo.2	-	46	7432	c.7192C>T	c.(7192-7194)CCA>TCA	p.P2398S	NCOR1_uc002gpn.2_Missense_Mutation_p.P2295S|NCOR1_uc002gpl.2_Missense_Mutation_p.P412S|NCOR1_uc002gpm.2_Missense_Mutation_p.P917S|NCOR1_uc010vwb.1_Missense_Mutation_p.P982S|NCOR1_uc010coy.2_Missense_Mutation_p.P1306S	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	2398	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATCGGTGTTGGTGGAGTACTG	0.498													A	15935741	G	A	15935741	3	1	23	1	0	0	0	0	1	0	0	0	10235	1261	44	4	134	4	NCOR1	17	15935741	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3296136	15935741	65259469	1299	21893											
TRPV2	51393	broad.mit.edu	37	chr17	16325986	16325986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtcaatgcctgcattctGccactgctgcagatcgacag	11	12	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:16325986G>A	uc002gpy.2	+	4	775	c.408G>A	c.(406-408)CTG>CTA	p.L136L	TRPV2_uc002gpz.2_5'UTR	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	136	Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 2.				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTGCATTCTGCCACTGCTGC	0.577													A	16325986	G	A	16325986	2	1	23	1	0	0	0	0	0	0	0	1	16593	1306	46	2		2	TRPV2	17	16325986	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	390245	16325986	64869224	1300	21894											
NT5M	56953	broad.mit.edu	37	chr17	17250190	17250190	+	Frame_Shift_Del	DEL	C	C	-													accagcacctgcagctgcagCccccccgccgcaggctgcac							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:17250189_17250189GC>G	uc002grf.3	+	4	800	c.615_615GC>G	c.(613-615)cagfs	p.Q205fs	NT5M_uc002grg.3_Frame_Shift_Del_p.Q211fs	NM_020201	NP_064586	Q9NPB1	NT5M_HUMAN	Homo sapiens 5',3'-nucleotidase, mitochondrial (NT5M), nuclear gene encoding mitochondrial protein, mRNA.	205					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding	p.L204P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TGCAGCTGCAGCCCCCCCGCC	0.672													-	17250190	C	-	17250190	7	5	23	1	0	1	0	1	0	0	0	0	10694	739	26	0	634	0	NT5M	17	17250190	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	924204	17250190	63945020	1301	21895											
RAI1	10743	broad.mit.edu	37	chr17	17698291	17698291	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttgcagctggacaagggcGgcaatgccaaggacttcagc	13	12	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:17698291G>T	uc002grm.2	+	3	2498	c.2029G>T	c.(2029-2031)GGC>TGC	p.G677C	RAI1_uc002grn.1_Missense_Mutation_p.G677C	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	677						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GGACAAGGGCGGCAATGCCAA	0.637													T	17698291	G	T	17698291	3	4	23	1	0	0	0	0	1	0	0	0	13007	1116	39	5	2031	5	RAI1	17	17698291	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	448101	17698291	63496919	1302	21896											
MYO15A	51168	broad.mit.edu	37	chr17	18023293	18023293	+	Frame_Shift_Del	DEL	C	C	-													ggtggggacgaggccatctaCccccccgaggtgccctattt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:18023292_18023292AC>A	uc021trm.1	+	0	1397	c.1178_1178AC>A	c.(1177-1179)tacfs	p.Y393fs	MYO15A_uc021trl.1_Frame_Shift_Del_p.Y393fs	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	393	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GAGGCCATCTACCCCCCCGAG	0.617													-	18023293	C	-	18023293	7	5	23	1	0	1	0	1	0	0	0	0	10063	518	18	0	1181	0	MYO15A	17	18023293	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	325002	18023293	63171917	1303	21897											
FBXW10	10517	broad.mit.edu	37	chr17	18647574	18647574	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatcatggaaaacctggaatCaaggctcaagaatgccccct	9	11	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:18647574C>T	uc002guk.2	+	1	249	c.17C>T	c.(16-18)TCA>TTA	p.S6L	FBXW10_uc002guj.2_Missense_Mutation_p.S6L|FBXW10_uc002gul.2_Missense_Mutation_p.S6L|FBXW10_uc010cqh.1_Missense_Mutation_p.S6L	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	F-box and WD-40 domain protein 10	6										ovary(1)	1						AACCTGGAATCAAGGCTCAAG	0.498													T	18647574	C	T	18647574	3	4	23	1	0	0	0	0	1	0	0	0	5763	838	29	4	19	4	FBXW10	17	18647574	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	624281	18647574	62547636	1304	21898											
KIAA0100	9703	broad.mit.edu	37	chr17	26960768	26960768	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtgtactggaatatttcCgctggggtagaggaacaaag	13	6	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:26960768C>T	uc002hbu.2	-	18	3363	c.3264G>A	c.(3262-3264)TCG>TCA	p.S1088S		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1088						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					GGAATATTTCCGCTGGGGTAG	0.532													T	26960768	C	T	26960768	2	4	23	1	0	0	0	0	0	0	0	1	8154	666	23	1		1	KIAA0100	17	26960768	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	8313194	26960768	54234442	1305	21899											
SUPT6H	6830	broad.mit.edu	37	chr17	27013675	27013675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacactcatcccaccagggaCgcccagatgttgattgaaga	9	12	1	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:27013675C>T	uc002hby.2	+	21	2658	c.2568C>T	c.(2566-2568)GAC>GAT	p.D856D	SUPT6H_uc010crt.2_Silent_p.D856D|SUPT6H_uc002hbz.1_5'Flank	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	856					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					CCACCAGGGACGCCCAGATGT	0.512													T	27013675	C	T	27013675	2	4	23	1	0	0	0	0	0	0	0	1	15397	535	19	1		1	SUPT6H	17	27013675	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	52907	27013675	54181535	1306	21900											
C17orf63	55731	broad.mit.edu	37	chr17	27086113	27086113	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggttggcgatctggccctcAcacactgaggtagtgctgat	14	10	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:27086113A>T	uc002hct.1	-	3	1131	c.864T>A	c.(862-864)TGT>TGA	p.C288*	C17orf63_uc010wax.1_Nonsense_Mutation_p.C288*|C17orf63_uc010way.1_Nonsense_Mutation_p.C288*|C17orf63_uc002hcw.2_Nonsense_Mutation_p.C160*	NM_018182	NP_060652	Q8WU58	CQ063_HUMAN	hypothetical protein LOC55731	288										ovary(1)	1	all_epithelial(6;5.06e-20)|Lung NSC(42;0.01)		Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104)			TCTGGCCCTCACACACTGAGG	0.597													T	27086113	A	T	27086113	4	4	23	1	0	0	0	0	0	1	0	0	1871	157	6	5		5	C17orf63	17	27086113	Nonsense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	72438	27086113	54109097	1307	21901											
CRYBA1	1411	broad.mit.edu	37	chr17	27577216	27577218	+	In_Frame_Del	DEL	AGG	AGG	-													tcagataaccatctatgatcAggagaactttcagggcaaga							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:27577215_27577217CAGG>C	uc002hdw.3	+	2	119_121	c.112_114CAGG>C	c.(112-114)cag>C	p.Q38del		NM_005208	NP_005199	P05813	CRBA1_HUMAN	Homo sapiens crystallin, beta A1 (CRYBA1), mRNA.	38	Beta/gamma crystallin 'Greek key' 1.				visual perception	soluble fraction	structural constituent of eye lens			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CATCTATGATCAGGAGAACTTTC	0.473													-	27577218	AGG	-	27577216	7	5	23	1	0	1	0	1	0	0	0	0	3907	188	7	0	123	0	CRYBA1	17	27577216	In_Frame_Del	DEL	AGG	TCGA-BR-4368-01A-01D-1158-08	491103	27577216	53617994	1308	21902											
SUZ12	23512	broad.mit.edu	37	chr17	30310094	30310094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaataagcaagaaaagaGcaacatgggagactattctt	9	7	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:30310094G>A	uc002hgs.2	+	9	1216	c.994G>A	c.(994-996)GCA>ACA	p.A332T	SUZ12_uc002hgt.2_Missense_Mutation_p.A309T	NM_015355	NP_056170	Q15022	SUZ12_HUMAN	joined to JAZF1	332					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		JAZF1/SUZ12(131)	soft_tissue(98)|endometrium(33)	131		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CAAGAAAAGAGCAACATGGGA	0.398			T	JAZF1	endometrial stromal tumours								A	30310094	G	A	30310094	3	1	23	1	0	0	0	0	1	0	0	0	15413	971	34	2	1028	2	SUZ12	17	30310094	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2732878	30310094	50885116	1309	21903											
RHBDL3	162494	broad.mit.edu	37	chr17	30616026	30616026	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttcatgatcacagtcacGctgctggaggcaaggacaag	13	9	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:30616026G>A	uc002hhe.1	+	4	524	c.510G>A	c.(508-510)ACG>ACA	p.T170T	RHBDL3_uc010csw.1_Silent_p.T162T|RHBDL3_uc010csx.1_Silent_p.T170T|RHBDL3_uc010csy.1_Silent_p.T72T|RHBDL3_uc002hhf.1_Silent_p.T72T	NM_138328	NP_612201	P58872	RHBL3_HUMAN	rhomboid protease 3	170	Helical; (Potential).				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)				TCACAGTCACGCTGCTGGAGG	0.607													A	30616026	G	A	30616026	2	1	23	1	0	0	0	0	0	0	0	1	13323	1074	38	1		1	RHBDL3	17	30616026	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	305932	30616026	50579184	1310	21904											
CCL13	6357	broad.mit.edu	37	chr17	32684573	32684573	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagaggctgaagagctatgtGatcaccaccagcaggtgtcc	12	11	1	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:32684573G>A	uc002hic.2	+	2	231	c.156G>A	c.(154-156)GTG>GTA	p.V52V		NM_005408	NP_005399	Q99616	CCL13_HUMAN	small inducible cytokine A13 precursor	52					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity				0		Ovarian(249;0.0443)|Breast(31;0.151)				AGAGCTATGTGATCACCACCA	0.483													A	32684573	G	A	32684573	2	1	23	1	0	0	0	0	0	0	0	1	2884	1277	45	4		4	CCL13	17	32684573	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2068547	32684573	48510637	1311	21905											
TMEM132E	124842	broad.mit.edu	37	chr17	32963111	32963111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatcacacagcttcaggCccaggtggtggccagcctgg	13	14	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:32963111C>T	uc002hif.2	+	9	2121	c.1793C>T	c.(1792-1794)GCC>GTC	p.A598V		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	598	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		CAGCTTCAGGCCCAGGTGGTG	0.662													T	32963111	C	T	32963111	3	4	23	1	0	0	0	0	1	0	0	0	16045	739	26	2	1827	2	TMEM132E	17	32963111	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	278538	32963111	48232099	1312	21906											
SLFN5	162394	broad.mit.edu	37	chr17	33585942	33585942	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggagtaggattggatgTgcctccaattttcagaagcc	11	8	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:33585942T>C	uc002hjf.3	+	2	350	c.233T>C	c.(232-234)GTG>GCG	p.V78A	SLFN5_uc002hje.2_Missense_Mutation_p.V78A|SLFN5_uc010wcg.1_Missense_Mutation_p.V78A	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	78					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GGATTGGATGTGCCTCCAATT	0.433													C	33585942	T	C	33585942	3	2	23	1	0	0	0	0	1	0	0	0	14737	1696	59	3	235	3	SLFN5	17	33585942	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	622831	33585942	47609268	1313	21907											
ACACA	31	broad.mit.edu	37	chr17	35470033	35470033	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacgctacctgctttctcGgtcagcatacatctccatgt	8	14	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:35470033G>A	uc002hnm.2	-	51	6522	c.6331C>T	c.(6331-6333)CGA>TGA	p.R2111*	ACACA_uc002hnk.2_Nonsense_Mutation_p.R2033*|ACACA_uc002hnl.2_Nonsense_Mutation_p.R2053*|ACACA_uc002hnn.2_Nonsense_Mutation_p.R2111*|ACACA_uc002hno.2_Nonsense_Mutation_p.R2148*|ACACA_uc010cuy.2_Nonsense_Mutation_p.R756*|ACACA_uc010wdb.1_Nonsense_Mutation_p.R149*|ACACA_uc010wdc.1_Nonsense_Mutation_p.R237*	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	2111	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTGCTTTCTCGGTCAGCATAC	0.552													A	35470033	G	A	35470033	4	1	23	1	0	0	0	0	0	1	0	0	106	1124	39	1	733	1	ACACA	17	35470033	Nonsense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1884091	35470033	45725177	1314	21908											
GRB7	2886	broad.mit.edu	37	chr17	37900851	37900851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgtgaacgagtccaacGtgtacgtggtgacgcagggc	15	9	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:37900851G>A	uc002hsr.2	+	8	1097	c.847G>A	c.(847-849)GTG>ATG	p.V283M	GRB7_uc002hss.2_Missense_Mutation_p.V283M|GRB7_uc010cwc.2_Missense_Mutation_p.V283M|GRB7_uc002hst.2_Missense_Mutation_p.V283M	NM_005310	NP_005301	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	283	PH.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGAGTCCAACGTGTACGTGGT	0.582													A	37900851	G	A	37900851	3	1	23	1	0	0	0	0	1	0	0	0	6759	1145	40	1	873	1	GRB7	17	37900851	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2430818	37900851	43294359	1315	21909											
IKZF3	22806	broad.mit.edu	37	chr17	37922143	37922143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttacactcgaaagggtcaCggaagccgtggcagcccatg	13	11	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:37922143C>T	uc002hsu.2	-	8	1492	c.1430G>A	c.(1429-1431)CGT>CAT	p.R477H	IKZF3_uc002htd.2_Missense_Mutation_p.R443H|IKZF3_uc010cwd.2_Missense_Mutation_p.R334H|IKZF3_uc002hsv.2_Missense_Mutation_p.R404H|IKZF3_uc010cwe.2_Missense_Mutation_p.R343H|IKZF3_uc010cwf.2_Missense_Mutation_p.R295H|IKZF3_uc010cwg.2_Missense_Mutation_p.R256H|IKZF3_uc002hsw.2_Missense_Mutation_p.R438H|IKZF3_uc002hsx.2_Missense_Mutation_p.R421H|IKZF3_uc002hsy.2_Missense_Mutation_p.R438H|IKZF3_uc002hsz.2_Missense_Mutation_p.R382H|IKZF3_uc002hta.2_Missense_Mutation_p.R399H|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.R390H|IKZF3_uc002htc.2_Missense_Mutation_p.R230H|IKZF3_uc010wel.1_Missense_Mutation_p.R230H	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	477					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GAAAGGGTCACGGAAGCCGTG	0.527													T	37922143	C	T	37922143	3	4	23	1	0	0	0	0	1	0	0	0	7616	536	19	1	103	1	IKZF3	17	37922143	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	21292	37922143	43273067	1316	21910											
IKZF3	22806	broad.mit.edu	37	chr17	37947745	37947745	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaggtgacacttaaaaggTttttcccctgtgtgcagttt	10	8	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:37947745T>G	uc002hsu.2	-	5	578	c.516A>C	c.(514-516)AAA>AAC	p.K172N	IKZF3_uc002htd.2_Missense_Mutation_p.K138N|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Missense_Mutation_p.K138N|IKZF3_uc010cwe.2_Intron|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Missense_Mutation_p.K172N|IKZF3_uc002hsx.2_Intron|IKZF3_uc002hsy.2_Missense_Mutation_p.K172N|IKZF3_uc002hsz.2_Intron|IKZF3_uc002hta.2_Missense_Mutation_p.K172N|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.K85N|IKZF3_uc002htc.2_Intron	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	172					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ACTTAAAAGGTTTTTCCCCTG	0.458													G	37947745	T	G	37947745	3	3	23	1	0	0	0	0	1	0	0	0	7616	1722	60	5	1029	5	IKZF3	17	37947745	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	25602	37947745	43247465	1317	21911											
KRT31	3881	broad.mit.edu	37	chr17	39551538	39551538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgatctccagggcgttgaCtgtgcgtctcagctcgatga	12	12	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:39551538C>T	uc002hwn.2	-	5	888	c.835G>A	c.(835-837)GTC>ATC	p.V279I	KRT31_uc010cxn.2_Missense_Mutation_p.V279I	NM_002277	NP_002268	Q15323	K1H1_HUMAN	keratin 31	279	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000496)				AGGGCGTTGACTGTGCGTCTC	0.602													T	39551538	C	T	39551538	3	4	23	1	0	0	0	0	1	0	0	0	8467	565	20	4	427	4	KRT31	17	39551538	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1603793	39551538	41643672	1318	21912											
DNAJC7	7266	broad.mit.edu	37	chr17	40134291	40134291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggatggtgcatcaaggCccgtttccgataagctttct	10	11	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:40134291C>T	uc002hyo.2	-	11	1450	c.1213G>A	c.(1213-1215)GCC>ACC	p.A405T	DNAJC7_uc010cxu.2_Missense_Mutation_p.A349T|DNAJC7_uc010cxv.2_Intron|DNAJC7_uc010wgb.1_Missense_Mutation_p.A349T|DNAJC7_uc010wgc.1_Missense_Mutation_p.A263T|DNAJC7_uc002hyp.2_Missense_Mutation_p.A349T	NM_003315	NP_003306	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	405	J.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			ovary(1)	1		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				TGCATCAAGGCCCGTTTCCGA	0.542													T	40134291	C	T	40134291	3	4	23	1	0	0	0	0	1	0	0	0	4654	739	26	2	287	2	DNAJC7	17	40134291	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	582753	40134291	41060919	1319	21913											
TMEM101	84336	broad.mit.edu	37	chr17	42090431	42090431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtggactgcagggagcgGctgcgaggtttccggcggta	19	10	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:42090431G>A	uc002ieu.2	-	3	436	c.411C>T	c.(409-411)AGC>AGT	p.S137S	TMEM101_uc010wis.1_Silent_p.S79S	NM_032376	NP_115752	Q96IK0	TM101_HUMAN	transmembrane protein 101	137					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCAGGGAGCGGCTGCGAGGTT	0.617													A	42090431	G	A	42090431	2	1	23	1	0	0	0	0	0	0	0	1	16013	1194	42	2		2	TMEM101	17	42090431	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1956140	42090431	39104779	1320	21914											
FZD2	2535	broad.mit.edu	37	chr17	42635524	42635524	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtcggccagaaccactcCgaggacggagctcccgcgct	13	16	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:42635524C>T	uc002igx.1	+	1	600	c.468C>T	c.(466-468)TCC>TCT	p.S156S		NM_001466	NP_001457	Q14332	FZD2_HUMAN	frizzled 2 precursor	156	Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AGAACCACTCCGAGGACGGAG	0.428													T	42635524	C	T	42635524	2	4	23	1	0	0	0	0	0	0	0	1	6130	639	23	1		1	FZD2	17	42635524	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	545093	42635524	38559686	1321	21915											
C1QL1	10882	broad.mit.edu	37	chr17	43044868	43044868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactggtgccgtcgccgccGcgcatgaggacatggtaggt	15	11	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:43044868G>A	uc002ihv.2	-	1	777	c.549C>T	c.(547-549)CGC>CGT	p.R183R		NM_006688	NP_006679	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	183	C1q.				locomotory behavior	collagen					0		Prostate(33;0.155)				CGTCGCCGCCGCGCATGAGGA	0.642													A	43044868	G	A	43044868	2	1	23	1	0	0	0	0	0	0	0	1	1958	1074	38	1		1	C1QL1	17	43044868	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	409344	43044868	38150342	1322	21916											
PLCD3	113026	broad.mit.edu	37	chr17	43195441	43195441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtatggccatgatagatgaCgggctcccctcctggcccct	12	14	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:43195441C>T	uc002iib.2	-	7	1294	c.1180G>A	c.(1180-1182)GTC>ATC	p.V394I		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	394	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	TGATAGATGACGGGCTCCCCT	0.642													T	43195441	C	T	43195441	3	4	23	1	0	0	0	0	1	0	0	0	12032	536	19	1	1224	1	PLCD3	17	43195441	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	150573	43195441	37999769	1323	21917											
TBX21	30009	broad.mit.edu	37	chr17	45822678	45822678	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcccctgctggggccccTtctccttttgataaggaagc	9	15	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:45822678T>G	uc002ilv.1	+	6	1765	c.1554T>G	c.(1552-1554)CCT>CCG	p.P518P		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	T-box 21	518					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0						CTGGGGCCCCTTCTCCTTTTG	0.498													G	45822678	T	G	45822678	2	3	23	1	0	0	0	0	0	0	0	1	15654	1596	56	5		5	TBX21	17	45822678	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	2627237	45822678	35372532	1324	21918											
HOXB3	3213	broad.mit.edu	37	chr17	46629792	46629792	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtacgaggaatagcctccGaagagagcagccgcggcgtt	16	10	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:46629792G>A	uc002inn.2	-	1	445	c.45C>T	c.(43-45)TTC>TTT	p.F15F	HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Silent_p.F15F|HOXB3_uc010dbg.2_Silent_p.F15F|HOXB3_uc002ino.2_Silent_p.F15F|HOXB3_uc010wlk.1_Intron|HOXB3_uc010wll.1_Intron	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	15					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AATAGCCTCCGAAGAGAGCAG	0.632													A	46629792	G	A	46629792	2	1	23	1	0	0	0	0	0	0	0	1	7302	1049	37	1		1	HOXB3	17	46629792	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	807114	46629792	34565418	1325	21919											
IGF2BP1	10642	broad.mit.edu	37	chr17	47118830	47118830	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggaacctgaagaaggtagaGcaagataccgagacaaaaat	11	7	0	5			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:47118830G>T	uc002iom.2	+	8	1243	c.909G>T	c.(907-909)GAG>GAT	p.E303D	IGF2BP1_uc010dbj.2_Missense_Mutation_p.E164D	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	303	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).|KH 2.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						AGAAGGTAGAGCAAGATACCG	0.502													T	47118830	G	T	47118830	3	4	23	1	0	0	0	0	1	0	0	0	7573	962	34	5	939	5	IGF2BP1	17	47118830	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	489038	47118830	34076380	1326	21920											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602													-	48433967	C	-	48433967	7	5	23	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	1315137	48433967	32761243	1327	21921											
SPAG9	9043	broad.mit.edu	37	chr17	49057256	49057256	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcgcacttggctctccttcCtgggatgtgcatcaaaagat	10	11	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:49057256C>A	uc002itc.2	-	26	3469	c.3260G>T	c.(3259-3261)AGG>ATG	p.R1087M	SPAG9_uc002itb.2_Missense_Mutation_p.R1073M|SPAG9_uc002itd.2_Missense_Mutation_p.R1077M|SPAG9_uc002ita.2_Missense_Mutation_p.R930M	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	1087					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GCTCTCCTTCCTGGGATGTGC	0.448													A	49057256	C	A	49057256	3	1	23	1	0	0	0	0	1	0	0	0	14985	681	24	5	725	5	SPAG9	17	49057256	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	623289	49057256	32137954	1328	21922											
PCTP	58488	broad.mit.edu	37	chr17	53851106	53851106	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtctaccttcggcagcggCgagacctggacatggaaggg	15	10	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:53851106C>T	uc002iul.3	+	4	470	c.361C>T	c.(361-363)CGA>TGA	p.R121*	PCTP_uc002ium.3_Nonsense_Mutation_p.R49*|PCTP_uc010dcg.2_Intron|PCTP_uc010dch.2_RNA	NM_021213	NP_067036	Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein isoform 1	121	START.					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity			lung(1)	1			BRCA - Breast invasive adenocarcinoma(1;0.00207)			TCGGCAGCGGCGAGACCTGGA	0.567													T	53851106	C	T	53851106	4	4	23	1	0	0	0	0	0	1	0	0	11607	760	27	1	375	1	PCTP	17	53851106	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	4793850	53851106	27344104	1329	21923											
TRIM25	7706	broad.mit.edu	37	chr17	54972887	54972887	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccatgataacttaccctccAagccagcttgttttaaatcc	4	14	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:54972887A>G	uc002iut.2	-	7	1319	c.1259T>C	c.(1258-1260)TTG>TCG	p.L420S	TRIM25_uc010dcj.2_Missense_Mutation_p.L212S	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	420	Interaction with influenza A virus NS1.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)					CTTACCCTCCAAGCCAGCTTG	0.527													G	54972887	A	G	54972887	3	3	23	1	0	0	0	0	1	0	0	0	16496	131	5	3	645	3	TRIM25	17	54972887	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	1121781	54972887	26222323	1330	21924											
SCPEP1	59342	broad.mit.edu	37	chr17	55078244	55078246	+	In_Frame_Del	DEL	GGA	GGA	-													accaacgtctttgtgaacatGgaggaggacttcatgaagcc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:55078243_55078245TGGA>T	uc002iuv.4	+	10	1075_1077	c.1022_1024TGGA>T	c.(1021-1026)atggag>aTag	p.341_342ME>I	SCPEP1_uc010dcl.3_Non-coding_Transcript|SCPEP1_uc010wnk.2_In_Frame_Del_p.291_292ME>I	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	Homo sapiens serine carboxypeptidase 1 (SCPEP1), mRNA.	341					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					TTTGTGAACATGGAGGAGGACTT	0.517													-	55078246	GGA	-	55078244	7	5	23	1	0	1	0	1	0	0	0	0	13935	1348	47	0	1065	0	SCPEP1	17	55078244	In_Frame_Del	DEL	GGA	TCGA-BR-4368-01A-01D-1158-08	105357	55078244	26116966	1331	21925											
AKAP1	8165	broad.mit.edu	37	chr17	55191844	55191844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcctgatggcatcaccGtggaggtcattgtggtcaac	13	10	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:55191844G>A	uc002iux.2	+	6	2359	c.2128G>A	c.(2128-2130)GTG>ATG	p.V710M	AKAP1_uc010wnl.1_Missense_Mutation_p.V710M|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Missense_Mutation_p.V710M	NM_003488	NP_003479	Q92667	AKAP1_HUMAN	A-kinase anchor protein 1 precursor	710					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			ovary(1)	1	Breast(9;5.46e-08)					TGGCATCACCGTGGAGGTCAT	0.567											OREG0024595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	55191844	G	A	55191844	3	1	23	1	0	0	0	0	1	0	0	0	445	1145	40	1	2146	1	AKAP1	17	55191844	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	113600	55191844	26003366	1332	21926											
LPO	4025	broad.mit.edu	37	chr17	56342193	56342193	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatcccagaatttccaatgtCttcaccttcgccttccgctt	5	15	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:56342193C>A	uc002ivt.2	+	10	1693	c.1377C>A	c.(1375-1377)GTC>GTA	p.V459V	LPO_uc010wns.1_Silent_p.V400V|LPO_uc010dcp.2_Silent_p.V376V|LPO_uc010dcq.2_Silent_p.V130V|LPO_uc010dcr.2_Silent_p.V22V	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	459					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2						TTTCCAATGTCTTCACCTTCG	0.517													A	56342193	C	A	56342193	2	1	23	1	0	0	0	0	0	0	0	1	8922	900	32	5		5	LPO	17	56342193	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1150349	56342193	24853017	1333	21927											
RNF43	54894	broad.mit.edu	37	chr17	56435035	56435035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccaggcctggaggtccaCagatcaaggggtgtgcctct	14	11	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:56435035C>T	uc002iwf.2	-	8	4058	c.2102G>A	c.(2101-2103)TGT>TAT	p.C701Y	RNF43_uc010wnv.1_Missense_Mutation_p.C660Y|RNF43_uc002iwh.3_Missense_Mutation_p.C701Y|RNF43_uc002iwg.3_Missense_Mutation_p.C701Y|RNF43_uc010dcw.2_Missense_Mutation_p.C574Y	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	701	Pro-rich.|Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGAGGTCCACAGATCAAGGG	0.592													T	56435035	C	T	56435035	3	4	23	1	0	0	0	0	1	0	0	0	13495	478	17	4	257	4	RNF43	17	56435035	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	92842	56435035	24760175	1334	21928											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	23	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	126	56435161	24760049	1335	21929											
RNF43	54894	broad.mit.edu	37	chr17	56435709	56435709	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagttgaccacagagtcActggaagagccatgacaggg	14	9	1	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:56435709A>G	uc002iwf.2	-	8	3384	c.1428T>C	c.(1426-1428)AGT>AGC	p.S476S	RNF43_uc010wnv.1_Silent_p.S435S|RNF43_uc002iwh.3_Silent_p.S476S|RNF43_uc002iwg.3_Silent_p.S476S|RNF43_uc010dcw.2_Silent_p.S349S	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	476	Cytoplasmic (Potential).|Ser-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCACAGAGTCACTGGAAGAGC	0.567													G	56435709	A	G	56435709	2	3	23	1	0	0	0	0	0	0	0	1	13495	156	6	3		3	RNF43	17	56435709	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	548	56435709	24759501	1336	21930											
TEX14	56155	broad.mit.edu	37	chr17	56642289	56642289	+	Frame_Shift_Del	DEL	T	T	-													aaaagcatactactatcttcTtttttactgtcagtttcttg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:56642288_56642288CT>C	uc010dcz.2	-	28	4262	c.4144_4144AG>G	c.(4144-4146)gaafs	p.E1382fs	TEX14_uc002iwr.2_Frame_Shift_Del_p.E1376fs|TEX14_uc002iws.2_Frame_Shift_Del_p.E1336fs|TEX14_uc010dda.2_Frame_Shift_Del_p.E1116fs	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	1382						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTACTATCTTCTTTTTTACTG	0.328													-	56642289	T	-	56642289	7	5	23	1	0	1	0	1	0	0	0	0	15775	1606	56	0	370	0	TEX14	17	56642289	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	206580	56642289	24552921	1337	21931											
TRIM37	4591	broad.mit.edu	37	chr17	57134370	57134370	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcgaatgatattttttgtAggatcattacaggactggtg	10	5	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:57134370A>G	uc002iwy.3	-	13	1509	c.1065T>C	c.(1063-1065)CCT>CCC	p.P355P	TRIM37_uc002iwz.3_Silent_p.P355P|TRIM37_uc002ixa.3_Silent_p.P233P|TRIM37_uc010woc.1_Silent_p.P321P	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	355	MATH.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TATTTTTTGTAGGATCATTAC	0.333									Mulibrey_Nanism				G	57134370	A	G	57134370	2	3	23	1	0	0	0	0	0	0	0	1	16508	407	15	3		3	TRIM37	17	57134370	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	492081	57134370	24060840	1338	21932											
USP32	84669	broad.mit.edu	37	chr17	58288786	58288786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gataaaatactgtgtcagtgGctgtgtgttactaacacact	9	7	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:58288786G>A	uc002iyo.1	-	20	2555	c.2269C>T	c.(2269-2271)CCA>TCA	p.P757S	USP32_uc002iyn.1_Missense_Mutation_p.P427S	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	757					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGTGTCAGTGGCTGTGTGTTA	0.433													A	58288786	G	A	58288786	3	1	23	1	0	0	0	0	1	0	0	0	17060	1203	42	2	2605	2	USP32	17	58288786	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1154416	58288786	22906424	1339	21933											
CSHL1	1444	broad.mit.edu	37	chr17	61988105	61988105	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgccacccctgacccgcacCcattccccaagagcttataa	5	18	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:61988105C>A	uc002jda.1	-	2	252	c.190G>T	c.(190-192)GAA>TAA	p.E64*	CSHL1_uc002jcz.1_Missense_Mutation_p.D64Y|CSHL1_uc002jdb.1_Intron|CSHL1_uc002jdc.1_Intron|CSHL1_uc002jdd.1_Intron|CSHL1_uc002jde.2_Missense_Mutation_p.G92C|CSHL1_uc002jdf.2_Intron|CSHL1_uc002jdg.2_Missense_Mutation_p.G64C|CSHL1_uc002jdh.2_Intron	NM_022579	NP_072101	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	64						extracellular region	hormone activity|metal ion binding				0						TGACCCGCACCCATTCCCCAA	0.532													A	61988105	C	A	61988105	4	1	23	1	0	0	0	0	0	1	0	0	3942	637	22	5	494	5	CSHL1	17	61988105	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3699319	61988105	19207105	1340	21934											
POLG2	11232	broad.mit.edu	37	chr17	62481916	62481916	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaatcatagaggtaggccaGcatgcctcggtctaggtccc	12	11	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:62481916G>T	uc002jei.2	-	5	1122	c.1039C>A	c.(1039-1041)CTG>ATG	p.L347M	POLG2_uc010deg.1_Missense_Mutation_p.L347M	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	DNA polymerase subunit gamma-2, mitochondrial	347					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)	1	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			AGGTAGGCCAGCATGCCTCGG	0.408													T	62481916	G	T	62481916	3	4	23	1	0	0	0	0	1	0	0	0	12201	962	34	5	434	5	POLG2	17	62481916	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	493811	62481916	18713294	1341	21935											
DDX5	1655	broad.mit.edu	37	chr17	62496298	62496298	+	Frame_Shift_Del	DEL	T	T	-													actgtaaacaccattctgagTttttgccccaaaatctcttt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:62496297_62496297GT>G	uc010deh.2	-	12	1632	c.1589_1589AC>C	c.(1588-1590)actfs	p.T530fs	DDX5_uc002jek.2_Frame_Shift_Del_p.T530fs|DDX5_uc002jej.2_Frame_Shift_Del_p.T425fs|DDX5_uc010wqa.1_Frame_Shift_Del_p.T451fs	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	530					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			ACCATTCTGAGTTTTTGCCCC	0.413			T	ETV4	prostate								-	62496298	T	-	62496298	7	5	23	1	0	1	0	1	0	0	0	0	4367	1725	60	0	260	0	DDX5	17	62496298	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	14382	62496298	18698912	1342	21936											
LRRC37A3	374819	broad.mit.edu	37	chr17	62856577	62856577	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggcttggtgtagacggcGtttcccgctaacttctcagg	13	10	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:62856577G>A	uc002jey.2	-	11	4218	c.3687C>T	c.(3685-3687)AAC>AAT	p.N1229N	LRRC37A3_uc010wqg.1_Silent_p.N347N|LRRC37A3_uc002jex.1_Silent_p.N206N|LRRC37A3_uc010wqf.1_Silent_p.N267N|LRRC37A3_uc010dek.1_Silent_p.N235N	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1229	Extracellular (Potential).					integral to membrane					0						TGTAGACGGCGTTTCCCGCTA	0.572													A	62856577	G	A	62856577	2	1	23	1	0	0	0	0	0	0	0	1	8993	1136	40	1		1	LRRC37A3	17	62856577	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	360279	62856577	18338633	1343	21937											
BPTF	2186	broad.mit.edu	37	chr17	65850305	65850305	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcatggcagagatgcatgTtgtgcttttgaaagcagttc	11	7	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:65850305T>C	uc002jgf.2	+	2	924	c.863T>C	c.(862-864)GTT>GCT	p.V288A	BPTF_uc002jge.2_Missense_Mutation_p.V288A|BPTF_uc010wqm.1_Missense_Mutation_p.V288A	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	288	DDT.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAGATGCATGTTGTGCTTTTG	0.433													C	65850305	T	C	65850305	3	2	23	1	0	0	0	0	1	0	0	0	1495	1725	60	3	869	3	BPTF	17	65850305	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	2993728	65850305	15344905	1344	21938											
SLC16A6	9120	broad.mit.edu	37	chr17	66270150	66270151	+	Frame_Shift_Ins	INS	-	-	C													tcccggtgctgacaagtagcINSccccccaacatcactaccag							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:66270149_66270150G>GC	uc002jha.2	-	3	607_608	c.294_295C>GC	c.(292-297)gggctafs	p.G98fs	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Frame_Shift_Ins_p.G98fs	NM_001174166	NP_004685	O15403	MOT7_HUMAN	Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA.	98						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTGACAAGTAGCCCCCCCAACA	0.535													C	66270151	-	C	66270150	7	5	23	1	0	1	1	0	0	0	0	0	14412	726	26	0	1293	0	SLC16A6	17	66270150	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	419845	66270150	14925060	1345	21939											
ABCA5	23461	broad.mit.edu	37	chr17	67260957	67260957	+	Frame_Shift_Del	DEL	A	A	-													agcatcaaaataagaatgatAaaaaataaggggatatcaac							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:67260956_67260956TA>T	uc002jif.2	-	22	4453	c.3235_3235TA>A	c.(3235-3237)atcfs	p.I1079fs	ABCA5_uc002jib.2_Frame_Shift_Del_p.I45fs|ABCA5_uc002jic.2_Frame_Shift_Del_p.I302fs|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Frame_Shift_Del_p.I1079fs	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1079					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ATAAGAATGATAAAAAATAAG	0.308													-	67260957	A	-	67260957	7	5	23	1	0	1	0	1	0	0	0	0	35	359	13	0	1758	0	ABCA5	17	67260957	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	990807	67260957	13934253	1346	21940											
CDC42EP4	23580	broad.mit.edu	37	chr17	71282556	71282556	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaagtcgcccagcggggcGctgatcatctcggccgtgag	16	13	2	2	rs141752695		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:71282556G>A	uc002jjn.2	-	2	231	c.84C>T	c.(82-84)AGC>AGT	p.S28S	CDC42EP4_uc002jjo.2_Silent_p.S28S|CDC42EP4_uc002jjp.1_Silent_p.S28S	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Cdc42 effector protein 4	28	CRIB.				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding				0			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCAGCGGGGCGCTGATCATCT	0.662													A	71282556	G	A	71282556	2	1	23	1	0	0	0	0	0	0	0	1	3078	1078	38	1		1	CDC42EP4	17	71282556	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	4021599	71282556	9912654	1347	21941											
GPRC5C	55890	broad.mit.edu	37	chr17	72436848	72436848	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagtccagcccagagcaaagCtaccagggggacatgtaccc	11	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:72436848C>A	uc002jks.2	+	1	972	c.933C>A	c.(931-933)AGC>AGA	p.S311R	GPRC5C_uc002jkp.2_Missense_Mutation_p.S356R|GPRC5C_uc002jkq.2_Intron|GPRC5C_uc002jkr.2_Missense_Mutation_p.S323R|GPRC5C_uc002jkt.2_Missense_Mutation_p.S311R|GPRC5C_uc002jku.2_5'Flank	NM_018653	NP_061123	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor family C, group 5,	311	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1)	5						CAGAGCAAAGCTACCAGGGGG	0.612													A	72436848	C	A	72436848	3	1	23	1	0	0	0	0	1	0	0	0	6726	796	28	5	1082	5	GPRC5C	17	72436848	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1154292	72436848	8758362	1348	21942											
OTOP3	347741	broad.mit.edu	37	chr17	72937882	72937882	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctctaccaagatccccaCgcggggcccctctgggtgcg	13	16	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:72937882C>T	uc010wrr.1	+	2	468	c.468C>T	c.(466-468)CAC>CAT	p.H156H	OTOP3_uc010wrq.1_Silent_p.H138H	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	156						integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)					AAGATCCCCACGCGGGGCCCC	0.687													T	72937882	C	T	72937882	2	4	23	1	0	0	0	0	0	0	0	1	11307	535	19	1		1	OTOP3	17	72937882	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	501034	72937882	8257328	1349	21943											
OTOP3	347741	broad.mit.edu	37	chr17	72942905	72942905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagaacgtgggccgccacGtggcaccccacatgggtgcc	15	14	0	1	rs141385371		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:72942905G>A	uc010wrr.1	+	6	955	c.955G>A	c.(955-957)GTG>ATG	p.V319M	OTOP3_uc010wrq.1_Missense_Mutation_p.V301M	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	319						integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)					GGGCCGCCACGTGGCACCCCA	0.637													A	72942905	G	A	72942905	3	1	23	1	0	0	0	0	1	0	0	0	11307	1145	40	1	977	1	OTOP3	17	72942905	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	5023	72942905	8252305	1350	21944											
ITGB4	3691	broad.mit.edu	37	chr17	73738521	73738521	+	Frame_Shift_Del	DEL	C	C	-													caggtggaacagagggccttCcacgacctcaaggtggcccc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:73738521delC	uc002jpg.2	+	24	2920	c.2733delC	c.(2731-2733)TTCfs	p.F911fs	ITGB4_uc002jph.2_Frame_Shift_Del_p.F911fs|ITGB4_uc002jpi.3_Frame_Shift_Del_p.F911fs|ITGB4_uc010dgp.1_Frame_Shift_Del_p.P924fs|ITGB4_uc002jpj.2_Frame_Shift_Del_p.F911fs	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	911	Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGAGGGCCTTCCACGACCTCA	0.657													-	73738521	C	-	73738521	7	5	23	1	0	1	0	1	0	0	0	0	7897	854	30	0	2823	0	ITGB4	17	73738521	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	795616	73738521	7456689	1351	21945											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74623163	74623163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttaccggaacacgtagtcGtgactgtctatctcctggcc	10	13	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:74623163G>A	uc002jsh.2	-	4	1332	c.1158C>T	c.(1156-1158)CAC>CAT	p.H386H	ST6GALNAC1_uc002jsi.2_Silent_p.H254H|ST6GALNAC1_uc002jsj.2_RNA	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	sialyltransferase 7A	386	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity				0						ACACGTAGTCGTGACTGTCTA	0.433													A	74623163	G	A	74623163	2	1	23	1	0	0	0	0	0	0	0	1	15222	1136	40	1		1	ST6GALNAC1	17	74623163	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	884642	74623163	6572047	1352	21946											
CYTH1	9267	broad.mit.edu	37	chr17	76696462	76696462	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaatatcgctgggcaaaCgcctccatcatccggtcgat	9	13	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:76696462C>T	uc002jvw.2	-	7	572	c.501G>A	c.(499-501)GCG>GCA	p.A167A	CYTH1_uc010wtw.1_Silent_p.A108A|CYTH1_uc010wtx.1_Silent_p.A108A	NM_017456	NP_059430	Q15438	CYH1_HUMAN	cytohesin 1 isoform 2	167	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						GCTGGGCAAACGCCTCCATCA	0.512													T	76696462	C	T	76696462	2	4	23	1	0	0	0	0	0	0	0	1	4203	523	19	1		1	CYTH1	17	76696462	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2073299	76696462	4498748	1353	21947											
GAA	2548	broad.mit.edu	37	chr17	78086728	78086728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcggggccgacgtctgcGgcttcctgggcaacacctca	14	14	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:78086728G>A	uc002jxo.2	+	15	2124	c.1942G>A	c.(1942-1944)GGC>AGC	p.G648S	GAA_uc002jxp.2_Missense_Mutation_p.G648S|GAA_uc002jxq.2_Missense_Mutation_p.G648S	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	648			G -> S (in GSD2).		cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CGACGTCTGCGGCTTCCTGGG	0.637													A	78086728	G	A	78086728	3	1	23	1	0	0	0	0	1	0	0	0	6147	1116	39	1	1992	1	GAA	17	78086728	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1390266	78086728	3108482	1354	21948											
GAA	2548	broad.mit.edu	37	chr17	78091429	78091429	+	Frame_Shift_Del	DEL	C	C	-													aggcccttggcagcctcccaCccccacctgcagctccccgt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:78091428_78091428AC>A	uc002jxp.3	+	16	2728	c.2361_2361AC>A	c.(2359-2361)ccafs	p.P787fs	GAA_uc002jxo.3_Frame_Shift_Del_p.P787fs|GAA_uc002jxq.3_Frame_Shift_Del_p.P787fs	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	787					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCAGCCTCCCACCCCCACCTG	0.677													-	78091429	C	-	78091429	7	5	23	1	0	1	0	1	0	0	0	0	6147	507	18	0	2424	0	GAA	17	78091429	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	4701	78091429	3103781	1355	21949											
SLC26A11	284129	broad.mit.edu	37	chr17	78195443	78195443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgctgctgctcccctgcGgccctgcagaggaggctgcc	14	17	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:78195443G>A	uc002jyb.1	+	3	353	c.84G>A	c.(82-84)GCG>GCA	p.A28A	SGSH_uc002jxz.3_5'Flank|SGSH_uc002jya.3_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.1_Silent_p.A28A|SLC26A11_uc002jyd.1_Silent_p.A28A|SLC26A11_uc010dhv.1_Silent_p.A28A	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	solute carrier family 26, member 11	28	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity				0	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCTCCCCTGCGGCCCTGCAGA	0.687													A	78195443	G	A	78195443	2	1	23	1	0	0	0	0	0	0	0	1	14516	1103	39	1		1	SLC26A11	17	78195443	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	104014	78195443	2999767	1356	21950											
RNF213	57674	broad.mit.edu	37	chr17	78337427	78337427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccctggacgcatttgccGcaatggcctgcacggagatg	13	12	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:78337427G>A	uc002jyh.1	+	16	6029	c.5806G>A	c.(5806-5808)GCA>ACA	p.A1936T	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.A318T	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGCATTTGCCGCAATGGCCTG	0.627													A	78337427	G	A	78337427	3	1	23	1	0	0	0	0	1	0	0	0	13477	1087	38	1	12064	1	RNF213	17	78337427	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	141984	78337427	2857783	1357	21951											
RPTOR	57521	broad.mit.edu	37	chr17	78882653	78882653	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactcagatttggagagtccTgctgcacctggctgctgacc	11	13	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:78882653T>C	uc002jyt.1	+	21	3249	c.2444T>C	c.(2443-2445)CTG>CCG	p.L815P	RPTOR_uc010wug.1_Missense_Mutation_p.L657P	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	815					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						TGGAGAGTCCTGCTGCACCTG	0.522													C	78882653	T	C	78882653	3	2	23	1	0	0	0	0	1	0	0	0	13665	1580	55	3	2526	3	RPTOR	17	78882653	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	545226	78882653	2312557	1358	21952											
C17orf56	146705	broad.mit.edu	37	chr17	79205464	79205464	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaagctcaactcctgctgAcagtcactcagggccaccac	7	17	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:79205464A>G	uc002jzu.1	-	9	751	c.729T>C	c.(727-729)TGT>TGC	p.C243C	C17orf56_uc002jzr.1_5'Flank|C17orf56_uc002jzs.1_Silent_p.C159C|C17orf56_uc002jzt.1_Silent_p.C159C|C17orf56_uc002jzv.1_Silent_p.C91C|uc002jzw.1_RNA	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	hypothetical protein LOC146705	243						integral to membrane					0	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ACTCCTGCTGACAGTCACTCA	0.652													G	79205464	A	G	79205464	2	3	23	1	0	0	0	0	0	0	0	1	1864	273	10	3		3	C17orf56	17	79205464	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	322811	79205464	1989746	1359	21953											
ARL16	339231	broad.mit.edu	37	chr17	79650094	79650094	+	Frame_Shift_Del	DEL	C	C	-													gaccagatggggcccatgcaCcccccaagctcccggatggt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:79650093_79650093AC>A	uc002kbf.3	-	2	355	c.256_256GT>T	c.(256-258)tgcfs	p.C86fs	ARL16_uc021ufd.1_Frame_Shift_Del_p.G36fs|HGS_uc010wus.2_5'Flank|HGS_uc002kbg.3_5'Flank	NM_001040025	NP_001035114	Q0P5N6	ARL16_HUMAN	Homo sapiens ADP-ribosylation factor-like 16 (ARL16), mRNA.	86							GTP binding			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGGCCCATGCACCCCCCAAGC	0.483													-	79650094	C	-	79650094	7	5	23	1	0	1	0	1	0	0	0	0	932	494	18	0	350	0	ARL16	17	79650094	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	444630	79650094	1545116	1360	21954											
FASN	2194	broad.mit.edu	37	chr17	80049540	80049540	+	Frame_Shift_Del	DEL	G	G	-													aggttgggggcccagagcccGtgctccagggacagcagcac							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:80049540delG	uc002kdu.2	-	9	1167	c.1050delC	c.(1048-1050)CACfs	p.H350fs	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	350	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCCAGAGCCCGTGCTCCAGGG	0.697													-	80049540	G	-	80049540	7	5	23	1	0	1	0	1	0	0	0	0	5683	1136	40	0	6625	0	FASN	17	80049540	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	399446	80049540	1145670	1361	21955											
C17orf101	79701	broad.mit.edu	37	chr17	80361822	80361822	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcgctcaccttgtccacGtgcgcatgccagtactcgtc	11	16	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:80361822G>A	uc002keu.1	-	7	791	c.690C>T	c.(688-690)CAC>CAT	p.H230H	C17orf101_uc002ket.1_Silent_p.H230H|C17orf101_uc010dip.1_RNA	NM_024648	NP_078924	Q6PK18	CQ101_HUMAN	hypothetical protein LOC79701 isoform 1	230	Fe2OG dioxygenase.|Lumenal (Potential).	Iron (By similarity).				integral to membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(1)	1						CCTTGTCCACGTGCGCATGCC	0.672													A	80361822	G	A	80361822	2	1	23	1	0	0	0	0	0	0	0	1	1848	1136	40	1		1	C17orf101	17	80361822	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	312282	80361822	833388	1362	21956											
USP14	9097	broad.mit.edu	37	chr18	211247	211247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttctactctatgggcctcGcagagttgaaataatggaag	11	8	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:211247G>A	uc002kkf.1	+	16	1664	c.1448G>A	c.(1447-1449)CGC>CAC	p.R483H	USP14_uc002kkg.1_Missense_Mutation_p.R448H|USP14_uc010wyr.1_Missense_Mutation_p.R472H	NM_005151	NP_005142	P54578	UBP14_HUMAN	ubiquitin specific protease 14 isoform a	483					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)	2		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TATGGGCCTCGCAGAGTTGAA	0.363													A	211247	G	A	211247	3	1	23	1	0	0	0	0	1	0	0	0	17042	1087	38	1	1510	1	USP14	18	211247	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08		211247	77866001	1363	21957											
DLGAP1	9229	broad.mit.edu	37	chr18	3879415	3879415	+	Frame_Shift_Del	DEL	G	G	-													cccatggtcatcacgcccgaGggggcgtggtagatgcacat							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:3879414_3879414AG>A	uc002kmf.3	-	3	1182	c.655_655CT>T	c.(655-657)tcgfs	p.S219fs	DLGAP1_uc010wyz.2_Frame_Shift_Del_p.S219fs|DLGAP1_uc002kmk.2_Frame_Shift_Del_p.S219fs|LOC201477_uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	219					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.S219W(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				ATCACGCCCGAGGGGGCGTGG	0.692													-	3879415	G	-	3879415	7	5	23	1	0	1	0	1	0	0	0	0	4559	987	35	0	2374	0	DLGAP1	18	3879415	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	3668168	3879415	74197833	1364	21958											
EPB41L3	23136	broad.mit.edu	37	chr18	5410606	5410606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggctgcggtgtccgtgcGctcactgtcagtctgttgac	14	12	3	1	rs143942399		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:5410606G>A	uc002kmt.1	-	14	2166	c.2080C>T	c.(2080-2082)CGC>TGC	p.R694C	EPB41L3_uc010wzh.1_Missense_Mutation_p.R525C|EPB41L3_uc002kmu.1_Missense_Mutation_p.R525C|EPB41L3_uc010dkq.1_Missense_Mutation_p.R416C|EPB41L3_uc002kms.1_5'UTR|EPB41L3_uc010wze.1_5'UTR|EPB41L3_uc010wzf.1_5'UTR|EPB41L3_uc010wzg.1_5'UTR|EPB41L3_uc010dkr.2_Missense_Mutation_p.R86C	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	694	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GTGTCCGTGCGCTCACTGTCA	0.557													A	5410606	G	A	5410606	3	1	23	1	0	0	0	0	1	0	0	0	5154	1087	38	1	1219	1	EPB41L3	18	5410606	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1531191	5410606	72666642	1365	21959											
CEP192	55125	broad.mit.edu	37	chr18	13056468	13056468	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtggcttctcaggaggCcttccctatccagctgttgc	11	13	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:13056468C>T	uc010xac.1	+	19	3959	c.3879C>T	c.(3877-3879)GGC>GGT	p.G1293G	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.G818G|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Silent_p.G1034G	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1293										ovary(4)|pancreas(1)	5						TCTCAGGAGGCCTTCCCTATC	0.532													T	13056468	C	T	13056468	2	4	23	1	0	0	0	0	0	0	0	1	3251	726	26	2		2	CEP192	18	13056468	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	7645862	13056468	65020780	1366	21960											
MC2R	4158	broad.mit.edu	37	chr18	13885348	13885348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgaaaaagtacatgggtGcctggagattcttattcttg	11	5	2	3	rs140534585		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:13885348G>A	uc002ksp.1	-	2	347	c.170C>T	c.(169-171)GCA>GTA	p.A57V		NM_000529	NP_000520	Q01718	ACTHR_HUMAN	melanocortin 2 receptor	57	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			ovary(4)|skin(1)	5					Corticotropin(DB01285)|Cosyntropin(DB01284)	GTACATGGGTGCCTGGAGATT	0.418													A	13885348	G	A	13885348	3	1	23	1	0	0	0	0	1	0	0	0	9364	1319	46	2	727	2	MC2R	18	13885348	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	828880	13885348	64191900	1367	21961											
OSBPL1A	114876	broad.mit.edu	37	chr18	21913010	21913010	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaagggtgtatttcctaacTgatccgaacagttaacatca	8	9	1	1	rs141897082	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:21913010T>C	uc002kve.2	-	7	695	c.521A>G	c.(520-522)CAG>CGG	p.Q174R		NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	174					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					ATTTCCTAACTGATCCGAACA	0.393													C	21913010	T	C	21913010	3	2	23	1	0	0	0	0	1	0	0	0	11277	1580	55	3	2419	3	OSBPL1A	18	21913010	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	8027662	21913010	56164238	1368	21962											
ZNF521	25925	broad.mit.edu	37	chr18	22805411	22805411	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctcgcaagtgtttttctAacaaaatgatcgcatggaag	8	7	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:22805411A>G	uc002kvk.2	-	4	2718	c.2471T>C	c.(2470-2472)TTA>TCA	p.L824S	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.L824S|ZNF521_uc002kvl.2_Missense_Mutation_p.L604S	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	824	C2H2-type 20.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GTGTTTTTCTAACAAAATGAT	0.463			T	PAX5	ALL								G	22805411	A	G	22805411	3	3	23	1	0	0	0	0	1	0	0	0	17962	372	13	3	1484	3	ZNF521	18	22805411	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	892401	22805411	55271837	1369	21963											
TAF4B	6875	broad.mit.edu	37	chr18	23845164	23845164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattaaaagtaacagtggtcCgttgatgttggtatctcctc	10	7	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:23845164C>T	uc002kvu.3	+	2	863	c.374C>T	c.(373-375)CCG>CTG	p.P125L	TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Missense_Mutation_p.P125L	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding	125					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)|skin(1)	3	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			AACAGTGGTCCGTTGATGTTG	0.388													T	23845164	C	T	23845164	3	4	23	1	0	0	0	0	1	0	0	0	15524	652	23	1	380	1	TAF4B	18	23845164	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1039753	23845164	54232084	1370	21964											
CHST9	83539	broad.mit.edu	37	chr18	24496680	24496680	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattggggtgttcaaatttgTccctaaaggctgatactaat	9	6	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:24496680T>C	uc002kwd.2	-	5	1073	c.875A>G	c.(874-876)GAC>GGC	p.D292G	C18orf16_uc002kwb.2_Intron|C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_Missense_Mutation_p.D207G|CHST9_uc002kwe.2_Missense_Mutation_p.D292G	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN	GalNAc-4-sulfotransferase 2	292	Lumenal (Potential).				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			ovary(2)|skin(1)	3	all_lung(6;0.0145)|Ovarian(20;0.124)					TTCAAATTTGTCCCTAAAGGC	0.373													C	24496680	T	C	24496680	3	2	23	1	0	0	0	0	1	0	0	0	3411	1667	58	3	460	3	CHST9	18	24496680	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	651516	24496680	53580568	1371	21965											
DSC3	1825	broad.mit.edu	37	chr18	28605830	28605830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttctttatcaactccacGtccacttattgagtagaaga	7	9	2	3	rs137869359		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:28605830G>A	uc002kwj.3	-	5	681	c.526C>T	c.(526-528)CGT>TGT	p.R176C	DSC3_uc002kwi.3_Missense_Mutation_p.R176C	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	176	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)|skin(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCAACTCCACGTCCACTTATT	0.313													A	28605830	G	A	28605830	3	1	23	1	0	0	0	0	1	0	0	0	4767	1145	40	1	2243	1	DSC3	18	28605830	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	4109150	28605830	49471418	1372	21966											
DSG3	1830	broad.mit.edu	37	chr18	29036431	29036431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attggttcatggagaattgcGaatagaggtaaagtatgaaa	12	2	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:29036431G>A	uc002kws.2	+	2	186	c.77G>A	c.(76-78)CGA>CAA	p.R26Q		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	26					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGAGAATTGCGAATAGAGGTA	0.199													A	29036431	G	A	29036431	3	1	23	1	0	0	0	0	1	0	0	0	4778	1058	37	1	83	1	DSG3	18	29036431	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	430601	29036431	49040817	1373	21967											
FHOD3	80206	broad.mit.edu	37	chr18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-													gcgatgagaccacggagccaCcccccagtgggtgccgggac							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:34205515_34205515AC>A	uc021uiv.1	+	9	1096	c.999_999AC>A	c.(997-999)ccafs	p.P333fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzt.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P158fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P86fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	333	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCACGGAGCCACCCCCCAGTG	0.677													-	34205516	C	-	34205516	7	5	23	1	0	1	0	1	0	0	0	0	5883	507	18	0	1038	0	FHOD3	18	34205516	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	5169085	34205516	43871732	1374	21968											
FHOD3	80206	broad.mit.edu	37	chr18	34340718	34340718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgccacccccgcgctgggcGtccgcacacgcagccgagca	12	20	0	0	rs149906669		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:34340718G>A	uc002kzt.1	+	22	4094	c.3997G>A	c.(3997-3999)GTC>ATC	p.V1333I	FHOD3_uc002kzs.1_Missense_Mutation_p.V1350I|FHOD3_uc010dmz.1_Missense_Mutation_p.V1065I|FHOD3_uc010dnb.1_Intron	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1333					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CGCGCTGGGCGTCCGCACACG	0.677													A	34340718	G	A	34340718	3	1	23	1	0	0	0	0	1	0	0	0	5883	1145	40	1	4138	1	FHOD3	18	34340718	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	135202	34340718	43736530	1375	21969											
SYT4	6860	broad.mit.edu	37	chr18	40857246	40857246	+	Frame_Shift_Del	DEL	T	T	-													gctggtggtgatcggagccaTtttttactgcgtgttctgtc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:40857245_40857245AT>A	uc002law.3	-	0	371	c.2_2AT>T	c.(1-3)atgfs	p.M1fs	SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Frame_Shift_Del_p.M1fs	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	1						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GATCGGAGCCATTTTTTACTG	0.493													-	40857246	T	-	40857246	7	5	23	1	0	1	0	1	0	0	0	0	15473	1493	52	0	1292	0	SYT4	18	40857246	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	6516528	40857246	37220002	1376	21970											
SETBP1	26040	broad.mit.edu	37	chr18	42530073	42530073	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagatccccgctcttgagccCgtggcttcctttgcaaaggc	10	14	1	2	rs141858699		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:42530073C>A	uc010dni.2	+	4	1064	c.768C>A	c.(766-768)CCC>CCA	p.P256P		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	256						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTCTTGAGCCCGTGGCTTCCT	0.537									Schinzel-Giedion_syndrome				A	42530073	C	A	42530073	2	1	23	1	0	0	0	0	0	0	0	1	14129	639	23	5		5	SETBP1	18	42530073	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1672827	42530073	35547175	1377	21971											
SETBP1	26040	broad.mit.edu	37	chr18	42643634	42643634	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaaggcagaggaagtccCgagggagtgagagcgaggtc	17	8	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:42643634C>T	uc010dni.2	+	6	5058	c.4762C>T	c.(4762-4764)CGA>TGA	p.R1588*		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1588						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAGGAAGTCCCGAGGGAGTGA	0.682									Schinzel-Giedion_syndrome				T	42643634	C	T	42643634	4	4	23	1	0	0	0	0	0	1	0	0	14129	644	23	1	4973	1	SETBP1	18	42643634	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	113561	42643634	35433614	1378	21972											
SLC14A1	6563	broad.mit.edu	37	chr18	43311097	43311097	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggacttcttgttcagaaccCctggtgggctctcactggct	11	12	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:43311097C>A	uc010xcn.1	+	5	588	c.269C>A	c.(268-270)CCC>CAC	p.P90H	SLC14A1_uc010dnk.2_Missense_Mutation_p.P146H|SLC14A1_uc002lbf.3_Missense_Mutation_p.P90H|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_5'UTR|SLC14A1_uc002lbh.3_Intron|SLC14A1_uc002lbi.3_Intron|SLC14A1_uc002lbj.3_Missense_Mutation_p.P146H|SLC14A1_uc002lbk.3_Missense_Mutation_p.P90H	NM_001146036	NP_001139508	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter),	90	Helical; (Potential).					integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|pancreas(1)	2						GTTCAGAACCCCTGGTGGGCT	0.547													A	43311097	C	A	43311097	3	1	23	1	0	0	0	0	1	0	0	0	14396	623	22	5	447	5	SLC14A1	18	43311097	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	667463	43311097	34766151	1379	21973											
PSTPIP2	9050	broad.mit.edu	37	chr18	43579446	43579446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggttggcactccggctgaCggcctgttctgcctcatctt	11	14	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:43579446C>T	uc002lbp.3	-	7	568	c.472G>A	c.(472-474)GTC>ATC	p.V158I	PSTPIP2_uc002lbq.3_Missense_Mutation_p.V158I	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting	158	Potential.					membrane				ovary(1)	1						CTCCGGCTGACGGCCTGTTCT	0.468													T	43579446	C	T	43579446	3	4	23	1	0	0	0	0	1	0	0	0	12722	536	19	1	564	1	PSTPIP2	18	43579446	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	268349	43579446	34497802	1380	21974											
KATNAL2	83473	broad.mit.edu	37	chr18	44601710	44601710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctggacgagctggagtcGgtgatgagtcagagaggcac	16	8	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:44601710G>A	uc002lco.2	+	11	1049	c.855G>A	c.(853-855)TCG>TCA	p.S285S	KATNAL2_uc010dnq.1_Silent_p.S64S|KATNAL2_uc002lcp.3_Silent_p.S212S	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	357						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						AGCTGGAGTCGGTGATGAGTC	0.502													A	44601710	G	A	44601710	2	1	23	1	0	0	0	0	0	0	0	1	7986	1103	39	1		1	KATNAL2	18	44601710	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1022264	44601710	33475538	1381	21975											
SMAD7	4092	broad.mit.edu	37	chr18	46448038	46448038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggttgtacacccacacacCatccacctcccgcgtcagct	7	19	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:46448038C>T	uc002ldg.2	-	4	1272	c.985G>A	c.(985-987)GGT>AGT	p.G329S	SMAD7_uc002ldf.2_Missense_Mutation_p.G141S|SMAD7_uc010xde.1_Missense_Mutation_p.G114S	NM_005904	NP_005895	O15105	SMAD7_HUMAN	SMAD family member 7	329	MH2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding				0	Colorectal(1;0.0518)					ACCCACACACCATCCACCTCC	0.577													T	46448038	C	T	46448038	3	4	23	1	0	0	0	0	1	0	0	0	14763	594	21	4	299	4	SMAD7	18	46448038	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1846328	46448038	31629210	1382	21976											
LMAN1	3998	broad.mit.edu	37	chr18	57013285	57013285	+	Splice_Site	DEL	T	T	-													tttctttatctggtgtgggcTtttttttggagttttggaat							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:57013284_57013284CT>C	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CTGGTGTGGGCTTTTTTTTGG	0.294													-	57013285	T	-	57013285	8	5	23	1	0	1	0	1	0	0	1	0	8836	1623	56	0	735	0	LMAN1	18	57013285	Splice_Site	DEL	T	TCGA-BR-4368-01A-01D-1158-08	10565247	57013285	21063963	1383	21977											
KIAA1468	57614	broad.mit.edu	37	chr18	59936122	59936122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcctcagcaggaaatgggGtcctcactaaagctacagtc	9	11	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:59936122G>A	uc002lil.2	+	20	2916	c.2701G>A	c.(2701-2703)GTC>ATC	p.V901I	KIAA1468_uc002lik.1_Missense_Mutation_p.V897I|KIAA1468_uc010xel.1_Missense_Mutation_p.V901I|KIAA1468_uc002lim.2_Missense_Mutation_p.V545I	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	901							binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				AGGAAATGGGGTCCTCACTAA	0.289													A	59936122	G	A	59936122	3	1	23	1	0	0	0	0	1	0	0	0	8236	1261	44	4	2779	4	KIAA1468	18	59936122	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2922837	59936122	18141126	1384	21978											
DSEL	92126	broad.mit.edu	37	chr18	65180208	65180208	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcacaaataccatttccccAtgttgagaggcagtgattat	7	10	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:65180208A>G	uc002lke.1	-	2	2892	c.1668T>C	c.(1666-1668)CAT>CAC	p.H556H		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	546						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				CCATTTCCCCATGTTGAGAGG	0.483													G	65180208	A	G	65180208	2	3	23	1	0	0	0	0	0	0	0	1	4775	214	8	3		3	DSEL	18	65180208	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	5244086	65180208	12897040	1385	21979											
CBLN2	147381	broad.mit.edu	37	chr18	70209175	70209175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggtgacggcgccgtccGccgacgggctggagtcgcac	18	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:70209175G>A	uc002lku.2	-	2	456	c.221C>T	c.(220-222)GCG>GTG	p.A74V	CBLN2_uc002lkv.2_Missense_Mutation_p.A74V	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	74						integral to membrane					0		Esophageal squamous(42;0.131)				GGCGCCGTCCGCCGACGGGCT	0.716													A	70209175	G	A	70209175	3	1	23	1	0	0	0	0	1	0	0	0	2705	1087	38	1	465	1	CBLN2	18	70209175	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	5028967	70209175	7868073	1386	21980											
NFATC1	4772	broad.mit.edu	37	chr18	77193701	77193701	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacggagggcagccggggggCcgtgaaggcgtcggccggag	23	10	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:77193701C>G	uc010xfg.1	+	3	1802	c.1349C>G	c.(1348-1350)GCC>GGC	p.A450G	NFATC1_uc002lnc.1_Missense_Mutation_p.A450G|NFATC1_uc010xff.1_Missense_Mutation_p.A450G|NFATC1_uc002lnd.2_Missense_Mutation_p.A450G|NFATC1_uc002lne.2_5'UTR|NFATC1_uc010xfh.1_Missense_Mutation_p.A450G|NFATC1_uc010xfi.1_Missense_Mutation_p.A437G|NFATC1_uc010xfj.1_5'UTR|NFATC1_uc002lnf.2_Missense_Mutation_p.A437G|NFATC1_uc002lng.2_Missense_Mutation_p.A437G|NFATC1_uc010xfk.1_Missense_Mutation_p.A437G	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	450	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		AGCCGGGGGGCCGTGAAGGCG	0.632													G	77193701	C	G	77193701	3	3	23	1	0	0	0	0	1	0	0	0	10361	739	26	5	1451	5	NFATC1	18	77193701	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	6984526	77193701	883547	1387	21981											
PQLC1	80148	broad.mit.edu	37	chr18	77664092	77664092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagcacctgcagcaggcCgcacacggagaactgcagag	12	15	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:77664092C>T	uc002lnl.2	-	6	872	c.700G>A	c.(700-702)GGC>AGC	p.G234S	PQLC1_uc010dre.2_Missense_Mutation_p.G151S|PQLC1_uc002lnk.2_Missense_Mutation_p.G216S|PQLC1_uc010xfm.1_3'UTR	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1 isoform 1	234	Helical; (Potential).					integral to membrane				large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		TGCAGCAGGCCGCACACGGAG	0.667													T	77664092	C	T	77664092	3	4	23	1	0	0	0	0	1	0	0	0	12418	652	23	1	119	1	PQLC1	18	77664092	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	470391	77664092	413156	1388	21982											
MIER2	54531	broad.mit.edu	37	chr19	308804	308804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagggctgcacgcacgtgGttccggacgggacgtacttc	17	11	0	0	rs150878648		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:308804G>A	uc002lok.1	-	11	1115	c.1106C>T	c.(1105-1107)ACC>ATC	p.T369I		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGCACGTGGTTCCGGACGG	0.687													A	308804	G	A	308804	3	1	23	1	0	0	0	0	1	0	0	0	9581	1261	44	4	547	4	MIER2	19	308804	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08		308804	58820179	1389	21983											
PALM	5064	broad.mit.edu	37	chr19	726187	726187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagcggctgcaggccatcGcagtgagtttccgccgcccc	14	15	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:726187G>A	uc002lpm.1	+	2	249	c.55G>A	c.(55-57)GCA>ACA	p.A19T	PALM_uc010xft.1_Missense_Mutation_p.A19T|PALM_uc002lpn.1_Missense_Mutation_p.A19T|PALM_uc010xfu.1_5'Flank	NM_002579	NP_002570	O75781	PALM_HUMAN	paralemmin isoform 1	19	Potential.				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane					0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		GCAGGCCATCGCAGTGAGTTT	0.612													A	726187	G	A	726187	3	1	23	1	0	0	0	0	1	0	0	0	11408	1087	38	1	61	1	PALM	19	726187	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	417383	726187	58402796	1390	21984											
MBD3	53615	broad.mit.edu	37	chr19	1581136	1581136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctttgcacaggggctgcGtggtgttgagccatacgccg	16	10	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:1581136G>A	uc002ltl.1	-	5	654	c.632C>T	c.(631-633)ACG>ATG	p.T211M	MBD3_uc002ltj.2_Missense_Mutation_p.T211M|MBD3_uc002ltk.2_Missense_Mutation_p.T179M	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	211					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGGCTGCGTGGTGTTGAG	0.657													A	1581136	G	A	1581136	3	1	23	1	0	0	0	0	1	0	0	0	9344	1145	40	1	251	1	MBD3	19	1581136	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	854949	1581136	57547847	1391	21985											
FAM108A1	81926	broad.mit.edu	37	chr19	1879997	1879997	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgcccgagctggcaccGtagccggagtagtcgtagga	16	12	0	0	rs139072903	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:1879997G>A	uc002lug.2	-	3	856	c.450C>T	c.(448-450)TAC>TAT	p.Y150Y	FAM108A1_uc002lud.2_Silent_p.Y132Y|FAM108A1_uc002lue.2_Silent_p.Y150Y|FAM108A1_uc002luf.2_Silent_p.Y201Y	NM_001130111	NP_001123583	Q96GS6	F18A1_HUMAN	hypothetical protein LOC81926 isoform 2	150						extracellular region	hydrolase activity				0		Ovarian(11;0.000137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGGCACCGTAGCCGGAGT	0.667													A	1879997	G	A	1879997	2	1	23	1	0	0	0	0	0	0	0	1	5391	1140	40	1		1	FAM108A1	19	1879997	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	298861	1879997	57248986	1392	21986											
TMPRSS9	360200	broad.mit.edu	37	chr19	2421894	2421894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgaggaggcccctggcGtgttttatctggcagggatc	15	11	1	0	rs151191920		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:2421894G>A	uc010xgx.1	+	13	2095	c.2095G>A	c.(2095-2097)GTG>ATG	p.V699M		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	699	Extracellular (Potential).|Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCCTGGCGTGTTTTATCT	0.612													A	2421894	G	A	2421894	3	1	23	1	0	0	0	0	1	0	0	0	16250	1145	40	1	2145	1	TMPRSS9	19	2421894	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	541897	2421894	56707089	1393	21987											
SLC39A3	29985	broad.mit.edu	37	chr19	2733010	2733010	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaccgccagcttggccgcGtcccgcaggggcatggcact	15	15	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:2733010G>A	uc002lwg.2	-	3	938	c.684C>T	c.(682-684)GAC>GAT	p.D228D	SLC39A3_uc010xgy.1_Silent_p.D228D	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter),	228	Cytoplasmic (Potential).					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTGGCCGCGTCCCGCAGGG	0.706													A	2733010	G	A	2733010	2	1	23	1	0	0	0	0	0	0	0	1	14619	1136	40	1		1	SLC39A3	19	2733010	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	311116	2733010	56395973	1394	21988											
DOHH	83475	broad.mit.edu	37	chr19	3496662	3496662	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtgcttgagcagggcggAatcgtcatcgaaggcctggc	15	11	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:3496662A>G	uc002lxs.2	-	2	314	c.151T>C	c.(151-153)TCC>CCC	p.S51P	DOHH_uc010xhl.1_Missense_Mutation_p.S51P	NM_031304	NP_112594	Q9BU89	DOHH_HUMAN	deoxyhypusine hydroxylase/monooxygenase	51					peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAGGGCGGAATCGTCATCG	0.677													G	3496662	A	G	3496662	3	3	23	1	0	0	0	0	1	0	0	0	4695	246	9	3	773	3	DOHH	19	3496662	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	763652	3496662	55632321	1395	21989											
C19orf28	126321	broad.mit.edu	37	chr19	3546152	3546152	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagctcatggagccgtacacGaacgctccgctgttctgtgg	12	12	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:3546152G>A	uc002lxz.2	-	8	1379	c.1209C>T	c.(1207-1209)TTC>TTT	p.F403F	C19orf28_uc002lxw.2_Silent_p.F403F|C19orf28_uc002lxx.2_Silent_p.F403F|C19orf28_uc002lxy.2_Silent_p.F394F	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform c	403	Helical; (Potential).				transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCGTACACGAACGCTCCGC	0.637													A	3546152	G	A	3546152	2	1	23	1	0	0	0	0	0	0	0	1	1917	1049	37	1		1	C19orf28	19	3546152	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	49490	3546152	55582831	1396	21990											
C19orf28	126321	broad.mit.edu	37	chr19	3547329	3547329	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggacaagaagccgctgaGgtacatcaccaggggaatgg	16	8	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:3547329G>T	uc002lxz.2	-	6	1134	c.964C>A	c.(964-966)CTC>ATC	p.L322I	C19orf28_uc002lxw.2_Missense_Mutation_p.L322I|C19orf28_uc002lxx.2_Missense_Mutation_p.L322I|C19orf28_uc002lxy.2_Missense_Mutation_p.L313I	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform c	322	Helical; (Potential).				transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGCCGCTGAGGTACATCACC	0.632													T	3547329	G	T	3547329	3	4	23	1	0	0	0	0	1	0	0	0	1917	1000	35	5	705	5	C19orf28	19	3547329	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1177	3547329	55581654	1397	21991											
C19orf29	58509	broad.mit.edu	37	chr19	3613306	3613306	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtccacctcggcctccgcGgggccgccctccgaggaggg	15	19	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:3613306G>A	uc002lyh.2	-	9	1589	c.1536C>T	c.(1534-1536)CCC>CCT	p.P512P	C19orf29_uc010xho.1_5'UTR|C19orf29_uc010dtn.2_Silent_p.P360P|C19orf29_uc002lyi.3_Silent_p.P512P|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	512						catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCCTCCGCGGGGCCGCCCT	0.786													A	3613306	G	A	3613306	2	1	23	1	0	0	0	0	0	0	0	1	1918	1103	39	1		1	C19orf29	19	3613306	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	65977	3613306	55515677	1398	21992											
C19orf29	58509	broad.mit.edu	37	chr19	3624077	3624077	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtccgactgagaggacCcatctcttgagtgccacttg	11	12	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:3624077C>A	uc002lyh.2	-	2	304	c.251G>T	c.(250-252)GGG>GTG	p.G84V	C19orf29_uc002lyi.3_Missense_Mutation_p.G84V|C19orf29_uc010dto.2_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	84						catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGAGAGGACCCATCTCTTGA	0.672													A	3624077	C	A	3624077	3	1	23	1	0	0	0	0	1	0	0	0	1918	623	22	5	2061	5	C19orf29	19	3624077	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	10771	3624077	55504906	1399	21993											
TJP3	27134	broad.mit.edu	37	chr19	3734422	3734422	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccgaggccagccagacCgactctcccgtgtaagtatc	10	16	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:3734422C>T	uc010xhv.1	+	7	1074	c.1074C>T	c.(1072-1074)ACC>ACT	p.T358T	TJP3_uc010xhs.1_Silent_p.T325T|TJP3_uc010xht.1_Silent_p.T289T|TJP3_uc010xhu.1_Silent_p.T334T|TJP3_uc010xhw.1_Silent_p.T344T	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	339						tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCCAGACCGACTCTCCCG	0.647													T	3734422	C	T	3734422	2	4	23	1	0	0	0	0	0	0	0	1	15928	639	23	1		1	TJP3	19	3734422	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	110345	3734422	55394561	1400	21994											
TJP3	27134	broad.mit.edu	37	chr19	3746525	3746525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccccctccgccatcgagCgcctcaactatgtgcagtac	8	17	1	1	rs142262857		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:3746525C>T	uc010xhv.1	+	16	2152	c.2152C>T	c.(2152-2154)CGC>TGC	p.R718C	TJP3_uc010xhs.1_Missense_Mutation_p.R685C|TJP3_uc010xht.1_Missense_Mutation_p.R649C|TJP3_uc010xhu.1_Missense_Mutation_p.R694C|TJP3_uc010xhw.1_Missense_Mutation_p.R704C	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	699	Guanylate kinase-like.					tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCATCGAGCGCCTCAACTA	0.652													T	3746525	C	T	3746525	3	4	23	1	0	0	0	0	1	0	0	0	15928	768	27	1	2214	1	TJP3	19	3746525	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	12103	3746525	55382458	1401	21995											
SHD	56961	broad.mit.edu	37	chr19	4283236	4283236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacatctccagggcgtttGcaggtgcttctcagacccac	9	15	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:4283236G>A	uc002lzw.2	+	3	2052	c.589G>A	c.(589-591)GCA>ACA	p.A197T	SHD_uc010dtu.2_Missense_Mutation_p.A197T	NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming	197											0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGCGTTTGCAGGTGCTTC	0.532													A	4283236	G	A	4283236	3	1	23	1	0	0	0	0	1	0	0	0	14275	1319	46	2	599	2	SHD	19	4283236	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	536711	4283236	54845747	1402	21996											
TICAM1	148022	broad.mit.edu	37	chr19	4816902	4816902	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcggagctgagctgggcCggggagctctccaggggcag	20	10	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:4816902C>T	uc002mbi.2	-	2	1739	c.1488G>A	c.(1486-1488)CCG>CCA	p.P496P		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	496					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TGAGCTGGGCCGGGGAGCTCT	0.652													T	4816902	C	T	4816902	2	4	23	1	0	0	0	0	0	0	0	1	15889	639	23	1		1	TICAM1	19	4816902	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	533666	4816902	54312081	1403	21997											
UHRF1	29128	broad.mit.edu	37	chr19	4947210	4947210	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtcttgtgatcagaaactcAccaacaccaacaggtttgtg	8	10	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:4947210A>T	uc002mbo.2	+	11	1672	c.1504A>T	c.(1504-1506)ACC>TCC	p.T502S	UHRF1_uc010xik.1_RNA|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.T515S	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	502	YDG.|Methyl-CpG binding and interaction with HDAC1.				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TCAGAAACTCACCAACACCAA	0.478													T	4947210	A	T	4947210	3	4	23	1	0	0	0	0	1	0	0	0	16964	159	6	5	1581	5	UHRF1	19	4947210	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	130308	4947210	54181773	1404	21998											
KDM4B	23030	broad.mit.edu	37	chr19	5047503	5047503	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggacgtggcccagtggaAcatcgggagcctccggacca	14	13	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:5047503A>G	uc002mbq.3	+	6	675	c.449A>G	c.(448-450)AAC>AGC	p.N150S	KDM4B_uc010xil.1_Missense_Mutation_p.N150S|KDM4B_uc010xim.1_Missense_Mutation_p.N150S	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	150	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						GCCCAGTGGAACATCGGGAGC	0.667													G	5047503	A	G	5047503	3	3	23	1	0	0	0	0	1	0	0	0	8129	43	2	3	463	3	KDM4B	19	5047503	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	100293	5047503	54081480	1405	21999											
PTPRS	5802	broad.mit.edu	37	chr19	5238970	5238970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaccacgggggtgaaggcGcccaggccctgcggcgagcg	18	15	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:5238970G>A	uc002mbv.2	-	13	2043	c.1809C>T	c.(1807-1809)GGC>GGT	p.G603G	PTPRS_uc002mbu.1_Silent_p.G590G|PTPRS_uc010xin.1_Silent_p.G590G|PTPRS_uc002mbw.2_Silent_p.G590G|PTPRS_uc002mbx.2_Silent_p.G594G|PTPRS_uc002mby.2_Silent_p.G590G	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	603	Extracellular (Potential).|Fibronectin type-III 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGGTGAAGGCGCCCAGGCCCT	0.706													A	5238970	G	A	5238970	2	1	23	1	0	0	0	0	0	0	0	1	12811	1074	38	1		1	PTPRS	19	5238970	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	191467	5238970	53890013	1406	22000											
LONP1	9361	broad.mit.edu	37	chr19	5711821	5711821	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaagtcctcgtggacaacGttctctacctccaccatgag	9	13	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:5711821G>A	uc002mcx.2	-	4	864	c.831C>T	c.(829-831)AAC>AAT	p.N277N	LONP1_uc002mcy.2_Silent_p.N213N|LONP1_uc010duh.2_Silent_p.N18N|LONP1_uc010dui.2_Intron|LONP1_uc002mcz.2_Silent_p.N81N	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	277	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						CGTGGACAACGTTCTCTACCT	0.682													A	5711821	G	A	5711821	2	1	23	1	0	0	0	0	0	0	0	1	8892	1136	40	1		1	LONP1	19	5711821	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	472851	5711821	53417162	1407	22001											
DUS3L	56931	broad.mit.edu	37	chr19	5786792	5786792	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggggctggcggcctgcacgCactcctcgatgtactgccag	14	14	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:5786792C>A	uc002mdc.2	-	9	1551	c.1454G>T	c.(1453-1455)TGC>TTC	p.C485F	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Missense_Mutation_p.C243F|DUS3L_uc010duk.2_Missense_Mutation_p.C150F	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like isoform 1	485					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0						GGCCTGCACGCACTCCTCGAT	0.622													A	5786792	C	A	5786792	3	1	23	1	0	0	0	0	1	0	0	0	4807	710	25	5	518	5	DUS3L	19	5786792	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	74971	5786792	53342191	1408	22002											
RFX2	5990	broad.mit.edu	37	chr19	6002844	6002844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggttgagggacgtgtagCgccgcagcgtctgggcgaag	20	8	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:6002844C>T	uc002meb.2	-	14	1807	c.1538G>A	c.(1537-1539)CGC>CAC	p.R513H	RFX2_uc002mec.2_Missense_Mutation_p.R488H	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						GGACGTGTAGCGCCGCAGCGT	0.662													T	6002844	C	T	6002844	3	4	23	1	0	0	0	0	1	0	0	0	13263	768	27	1	653	1	RFX2	19	6002844	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	216052	6002844	53126139	1409	22003											
RFX2	5990	broad.mit.edu	37	chr19	6040186	6040186	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggcaccgcctggggcctcGaagtaagaagccgtgctgct	15	12	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:6040186G>A	uc002meb.2	-	5	596	c.327C>T	c.(325-327)TTC>TTT	p.F109F	RFX2_uc002mec.2_Silent_p.F109F|RFX2_uc010xiy.1_Silent_p.F64F	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						CTGGGGCCTCGAAGTAAGAAG	0.642													A	6040186	G	A	6040186	2	1	23	1	0	0	0	0	0	0	0	1	13263	1049	37	1		1	RFX2	19	6040186	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	37342	6040186	53088797	1410	22004											
VAV1	7409	broad.mit.edu	37	chr19	6825086	6825086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttgaagcccctgcaacGgttcctgaaacctcaagaca	7	13	2	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:6825086G>A	uc002mfu.1	+	7	774	c.677G>A	c.(676-678)CGG>CAG	p.R226Q	VAV1_uc010xjh.1_Missense_Mutation_p.R194Q|VAV1_uc010dva.1_Missense_Mutation_p.R226Q|VAV1_uc002mfv.1_Missense_Mutation_p.R171Q	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	226	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						CCCCTGCAACGGTTCCTGAAA	0.473													A	6825086	G	A	6825086	3	1	23	1	0	0	0	0	1	0	0	0	17128	1116	39	1	703	1	VAV1	19	6825086	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	784900	6825086	52303897	1411	22005											
EMR1	2015	broad.mit.edu	37	chr19	6924823	6924823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctccacctgcacctctgCgtgtgtctcctcttggcgaa	8	16	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:6924823C>T	uc002mfw.2	+	15	1964	c.1926C>T	c.(1924-1926)TGC>TGT	p.C642C	EMR1_uc010dvc.2_Intron|EMR1_uc010dvb.2_Silent_p.C590C|EMR1_uc010xji.1_Silent_p.C501C|EMR1_uc010xjj.1_Silent_p.C465C	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	642	Helical; Name=2; (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					TGCACCTCTGCGTGTGTCTCC	0.527													T	6924823	C	T	6924823	2	4	23	1	0	0	0	0	0	0	0	1	5104	776	27	1		1	EMR1	19	6924823	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	99737	6924823	52204160	1412	22006											
EMR1	2015	broad.mit.edu	37	chr19	6935074	6935074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttaatgccgaagtctcaaCgctaaaagacaccaggtaaa	8	9	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:6935074C>T	uc002mfw.2	+	18	2404	c.2366C>T	c.(2365-2367)ACG>ATG	p.T789M	EMR1_uc010dvc.2_Missense_Mutation_p.T724M|EMR1_uc010dvb.2_Missense_Mutation_p.T770M|EMR1_uc010xji.1_Missense_Mutation_p.T648M|EMR1_uc010xjj.1_Missense_Mutation_p.T612M	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	789	Cytoplasmic (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					GAAGTCTCAACGCTAAAAGAC	0.478													T	6935074	C	T	6935074	3	4	23	1	0	0	0	0	1	0	0	0	5104	536	19	1	2436	1	EMR1	19	6935074	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	10251	6935074	52193909	1413	22007											
EMR1	2015	broad.mit.edu	37	chr19	6937643	6937643	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatcttgctgtcctccatgcCatccgcttccaagacggtga	9	14	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:6937643C>A	uc002mfw.2	+	20	2677	c.2639C>A	c.(2638-2640)CCA>CAA	p.P880Q	EMR1_uc010dvc.2_Missense_Mutation_p.P815Q|EMR1_uc010dvb.2_Missense_Mutation_p.P861Q|EMR1_uc010xji.1_Missense_Mutation_p.P739Q|EMR1_uc010xjj.1_Missense_Mutation_p.P703Q	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	880	Cytoplasmic (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					TCCTCCATGCCATCCGCTTCC	0.587													A	6937643	C	A	6937643	3	1	23	1	0	0	0	0	1	0	0	0	5104	594	21	5	2717	5	EMR1	19	6937643	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2569	6937643	52191340	1414	22008											
ZNF358	140467	broad.mit.edu	37	chr19	7584517	7584517	+	Frame_Shift_Del	DEL	C	C	-													ctcctctggcctcactgccaCcccccaggtcttggccacca							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:7584516_7584516AC>A	uc002mgn.2	+	1	558	c.388_388AC>A	c.(388-390)accfs	p.T130fs	ZNF358_uc021unu.1_Frame_Shift_Del_p.T130fs|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	130					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CCTCACTGCCACCCCCCAGGT	0.697													-	7584517	C	-	7584517	7	5	23	1	0	1	0	1	0	0	0	0	17864	507	18	0	391	0	ZNF358	19	7584517	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	646874	7584517	51544466	1415	22009											
PNPLA6	10908	broad.mit.edu	37	chr19	7625616	7625616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaatgctcacagaccggcGgtctacagaccttaatgaga	10	10	2	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:7625616G>A	uc010xjq.1	+	31	4007	c.3812G>A	c.(3811-3813)CGG>CAG	p.R1271Q	PNPLA6_uc002mgq.1_Missense_Mutation_p.R1223Q|PNPLA6_uc010xjp.1_Missense_Mutation_p.R1196Q|PNPLA6_uc002mgr.1_Missense_Mutation_p.R1223Q|PNPLA6_uc002mgs.2_Missense_Mutation_p.R1261Q|PNPLA6_uc002mgt.1_RNA	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	1262	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						ACAGACCGGCGGTCTACAGAC	0.577													A	7625616	G	A	7625616	3	1	23	1	0	0	0	0	1	0	0	0	12169	1116	39	1	3930	1	PNPLA6	19	7625616	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	41099	7625616	51503367	1416	22010											
MAP2K7	5609	broad.mit.edu	37	chr19	7975347	7975347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgtgcagcaaatgcggCgctccgggaacaaggaggag	16	10	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:7975347C>T	uc002mit.2	+	5	522	c.457C>T	c.(457-459)CGC>TGC	p.R153C	MAP2K7_uc002miv.2_Missense_Mutation_p.R153C|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.R153C|MAP2K7_uc010dvv.2_Missense_Mutation_p.R28C	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	153	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	GCAAATGCGGCGCTCCGGGAA	0.632													T	7975347	C	T	7975347	3	4	23	1	0	0	0	0	1	0	0	0	9242	768	27	1	475	1	MAP2K7	19	7975347	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	349731	7975347	51153636	1417	22011											
ANGPTL4	51129	broad.mit.edu	37	chr19	8431200	8431200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacaatgtcagccgcctgCaccgtgagtgtctgcccctc	9	17	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:8431200C>T	uc002mjq.1	+	3	739	c.544C>T	c.(544-546)CAC>TAC	p.H182Y	ANGPTL4_uc002mjr.1_Missense_Mutation_p.H182Y|ANGPTL4_uc010xkc.1_Missense_Mutation_p.H15Y	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4 protein isoform a precursor	182	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			ovary(1)	1						CAGCCGCCTGCACCGTGAGTG	0.622													T	8431200	C	T	8431200	3	4	23	1	0	0	0	0	1	0	0	0	616	710	25	2	554	2	ANGPTL4	19	8431200	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	455853	8431200	50697783	1418	22012											
MUC16	94025	broad.mit.edu	37	chr19	9067398	9067398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaggtctcagtagcaccaGtggtcaacttgtgaaggaca	12	8	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:9067398G>A	uc002mkp.2	-	3	20252	c.20048C>T	c.(20047-20049)ACT>ATT	p.T6683I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6685	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGTAGCACCAGTGGTCAACTT	0.517													A	9067398	G	A	9067398	3	1	23	1	0	0	0	0	1	0	0	0	9973	1029	36	4	23803	4	MUC16	19	9067398	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	636198	9067398	50061585	1419	22013											
MUC16	94025	broad.mit.edu	37	chr19	9068980	9068980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggacctgtttgtgtggCgatggtcttgtgtgtagata	15	4	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:9068980C>T	uc002mkp.2	-	3	18670	c.18466G>A	c.(18466-18468)GCC>ACC	p.A6156T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6158	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTTTGTGTGGCGATGGTCTTG	0.507													T	9068980	C	T	9068980	3	4	23	1	0	0	0	0	1	0	0	0	9973	768	27	1	25385	1	MUC16	19	9068980	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1582	9068980	50060003	1420	22014											
ZNF317	57693	broad.mit.edu	37	chr19	9270841	9270841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatacgctcacttgttcgaaGtctttggcatggaccctcat	8	11	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:9270841G>A	uc002mku.2	+	7	795	c.520G>A	c.(520-522)GTC>ATC	p.V174I	ZNF317_uc002mkv.2_Missense_Mutation_p.V33I|ZNF317_uc002mkw.2_Missense_Mutation_p.V142I|ZNF317_uc002mkx.2_Missense_Mutation_p.V89I|ZNF317_uc002mky.2_Missense_Mutation_p.V57I	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTTGTTCGAAGTCTTTGGCAT	0.527													A	9270841	G	A	9270841	3	1	23	1	0	0	0	0	1	0	0	0	17832	1029	36	4	542	4	ZNF317	19	9270841	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	201861	9270841	49858142	1421	22015											
ZNF317	57693	broad.mit.edu	37	chr19	9271917	9271917	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagaaaccgtacgaatgCgatcactgtgggaaggcctt	15	8	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:9271917C>T	uc002mku.2	+	7	1871	c.1596C>T	c.(1594-1596)TGC>TGT	p.C532C	ZNF317_uc002mkv.2_Silent_p.C391C|ZNF317_uc002mkw.2_Silent_p.C500C|ZNF317_uc002mkx.2_Silent_p.C447C|ZNF317_uc002mky.2_Silent_p.C415C	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	532	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CGTACGAATGCGATCACTGTG	0.567													T	9271917	C	T	9271917	2	4	23	1	0	0	0	0	0	0	0	1	17832	776	27	1		1	ZNF317	19	9271917	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1076	9271917	49857066	1422	22016											
ZNF559	84527	broad.mit.edu	37	chr19	9453476	9453476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaagcctttagatactcctCgcaccttagtcaacataaaa	5	11	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:9453476C>T	uc002mlg.2	+	7	1996	c.1349C>T	c.(1348-1350)TCG>TTG	p.S450L	ZNF559_uc002mlf.2_Missense_Mutation_p.S219L|ZNF559_uc010dwl.1_Missense_Mutation_p.S219L|ZNF559_uc010xkn.1_Missense_Mutation_p.S442L|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Missense_Mutation_p.S514L|ZNF559_uc010dwk.1_Missense_Mutation_p.S219L|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN	zinc finger protein 559	450	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGATACTCCTCGCACCTTAGT	0.428													T	9453476	C	T	9453476	3	4	23	1	0	0	0	0	1	0	0	0	17987	893	31	1	1363	1	ZNF559	19	9453476	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	181559	9453476	49675507	1423	22017											
ZNF426	79088	broad.mit.edu	37	chr19	9640164	9640164	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtagaggttttctcacacAgggtaaggaaatcttttcca	9	8	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:9640164A>G	uc002mlq.2	-	8	821	c.557T>C	c.(556-558)CTG>CCG	p.L186P	ZNF426_uc010dws.2_Missense_Mutation_p.L148P	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	zinc finger protein 426	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTTCTCACACAGGGTAAGGAA	0.403													G	9640164	A	G	9640164	3	3	23	1	0	0	0	0	1	0	0	0	17897	188	7	3	1111	3	ZNF426	19	9640164	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	186688	9640164	49488819	1424	22018											
FDX1L	112812	broad.mit.edu	37	chr19	10426107	10426107	+	Frame_Shift_Del	DEL	C	C	-													ggccaggtgaagaacattgtCcccgactctgccactcactg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:10426106_10426106TC>T	uc002mny.1	-	2	282	c.263_263GA>A	c.(262-264)gacfs	p.D88fs	FDX1L_uc002mnx.1_Non-coding_Transcript	NM_001031734	NP_001026904	Q6P4F2	ADXL_HUMAN	Homo sapiens ferredoxin 1-like (FDX1L), nuclear gene encoding mitochondrial protein, mRNA.	88	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			AAGAACATTGTCCCCGACTCT	0.557													-	10426107	C	-	10426107	7	5	23	1	0	1	0	1	0	0	0	0	5805	855	30	0	301	0	FDX1L	19	10426107	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	785943	10426107	48702876	1425	22019											
LDLR	3949	broad.mit.edu	37	chr19	11224014	11224014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaagatgacgctggaccGgagcgagtacaccagcctca	13	12	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:11224014G>A	uc002mqk.3	+	9	1415	c.1247G>A	c.(1246-1248)CGG>CAG	p.R416Q	LDLR_uc010xlk.1_Missense_Mutation_p.R416Q|LDLR_uc010xll.1_Missense_Mutation_p.R375Q|LDLR_uc010xlm.1_Missense_Mutation_p.R269Q|LDLR_uc010xln.1_Missense_Mutation_p.R289Q|LDLR_uc010xlo.1_Missense_Mutation_p.R248Q	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	416	LDL-receptor class B 1.|Extracellular (Potential).		R -> Q (in FH; German patient).|R -> W (in FH).		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	ACGCTGGACCGGAGCGAGTAC	0.622													A	11224014	G	A	11224014	3	1	23	1	0	0	0	0	1	0	0	0	8704	1116	39	1	1281	1	LDLR	19	11224014	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	797907	11224014	47904969	1426	22020											
EPOR	2057	broad.mit.edu	37	chr19	11493831	11493831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccagcgctcgccgcttcctCccagaaacacaccaagtcct	6	20	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:11493831C>T	uc002mrj.1	-	2	329	c.193G>A	c.(193-195)GAG>AAG	p.E65K	EPOR_uc002mrh.2_5'Flank|EPOR_uc002mri.2_5'UTR|EPOR_uc002mrk.1_5'UTR|EPOR_uc002mrl.1_RNA|EPOR_uc010xlx.1_RNA|EPOR_uc010xly.1_5'UTR|RGL3_uc002mrn.2_3'UTR|RGL3_uc002mrm.2_3'UTR	NM_000121	NP_000112	P19235	EPOR_HUMAN	erythropoietin receptor precursor	65	Extracellular (Potential).					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			ovary(1)	1					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GCCGCTTCCTCCCAGAAACAC	0.682													T	11493831	C	T	11493831	3	4	23	1	0	0	0	0	1	0	0	0	5189	864	30	4	1361	4	EPOR	19	11493831	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	269817	11493831	47635152	1427	22021											
ZNF442	79973	broad.mit.edu	37	chr19	12461820	12461820	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgtcttcgaaggtttccCgaagaactgaaggttttccc	10	9	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:12461820C>T	uc002mtr.1	-	6	1190	c.579G>A	c.(577-579)TCG>TCA	p.S193S	ZNF442_uc010xmk.1_Silent_p.S124S	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	193	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|breast(1)|kidney(1)	4						GAAGGTTTCCCGAAGAACTGA	0.413													T	12461820	C	T	12461820	2	4	23	1	0	0	0	0	0	0	0	1	17912	639	23	1		1	ZNF442	19	12461820	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	967989	12461820	46667163	1428	22022											
DAND5	199699	broad.mit.edu	37	chr19	13080535	13080535	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggggccctgcctacaggcTcagggaggcctgaaccccag	15	15	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:13080535T>C	uc002mwc.1	+	1	104	c.61T>C	c.(61-63)TCA>CCA	p.S21P	DAND5_uc010dyz.1_Missense_Mutation_p.S51P	NM_152654	NP_689867	Q8N907	DAND5_HUMAN	dante precursor	21						extracellular region				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			GCCTACAGGCTCAGGGAGGCC	0.547													C	13080535	T	C	13080535	3	2	23	1	0	0	0	0	1	0	0	0	4230	1551	54	3	63	3	DAND5	19	13080535	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	618715	13080535	46048448	1429	22023											
TRMT1	55621	broad.mit.edu	37	chr19	13220273	13220273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagtacagaggcacgtccGggagctcctgcgatggggga	17	9	0	1	rs150358822		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:13220273G>A	uc002mwj.2	-	11	1569	c.1319C>T	c.(1318-1320)CCG>CTG	p.P440L	TRMT1_uc010xmy.1_Missense_Mutation_p.P44L|TRMT1_uc002mwk.2_Missense_Mutation_p.P411L|TRMT1_uc002mwl.3_Missense_Mutation_p.P440L|TRMT1_uc010xmz.1_Missense_Mutation_p.P226L	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	440							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		AGGCACGTCCGGGAGCTCCTG	0.642													A	13220273	G	A	13220273	3	1	23	1	0	0	0	0	1	0	0	0	16558	1116	39	1	684	1	TRMT1	19	13220273	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	139738	13220273	45908710	1430	22024											
CACNA1A	773	broad.mit.edu	37	chr19	13419248	13419248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttgtgactttgaaaataCgcaataacctgagggctcgt	9	8	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:13419248C>T	uc010dze.2	-	13	2002	c.1766G>A	c.(1765-1767)CGT>CAT	p.R589H	CACNA1A_uc010dzc.2_Missense_Mutation_p.R114H|CACNA1A_uc002mwy.3_Missense_Mutation_p.R588H|CACNA1A_uc010xne.1_Missense_Mutation_p.R114H	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	589	Helical; Name=S4 of repeat II; (Potential).|II.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTTGAAAATACGCAATAACCT	0.507													T	13419248	C	T	13419248	3	4	23	1	0	0	0	0	1	0	0	0	2538	536	19	1	6008	1	CACNA1A	19	13419248	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	198975	13419248	45709735	1431	22025											
NOTCH3	4854	broad.mit.edu	37	chr19	15302821	15302821	+	Frame_Shift_Del	DEL	C	C	-													cgccactctgcctgcaggtgCccccgttacggcatggtgag					rs61336539		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:15302820_15302820GC>G	uc002nan.3	-	3	706	c.630_630GC>C	c.(628-630)ggcfs	p.G210fs	NOTCH3_uc002nao.1_Frame_Shift_Del_p.G210fs	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	210	EGF-like 5.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCCTGCAGGTGCCCCCGTTAC	0.642													-	15302821	C	-	15302821	7	5	23	1	0	1	0	1	0	0	0	0	10550	739	26	0	6456	0	NOTCH3	19	15302821	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	1883573	15302821	43826162	1432	22026											
SIN3B	23309	broad.mit.edu	37	chr19	16980447	16980447	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atccaccagctgctgcaccaGttcgtgcccagcctcttctt	7	17	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:16980447G>C	uc002ney.1	+	14	2093	c.2079G>C	c.(2077-2079)CAG>CAC	p.Q693H	SIN3B_uc002nez.1_Missense_Mutation_p.Q661H|SIN3B_uc010xpi.1_Missense_Mutation_p.Q251H	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	693					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						TGCTGCACCAGTTCGTGCCCA	0.647													C	16980447	G	C	16980447	3	2	23	1	0	0	0	0	1	0	0	0	14326	1020	36	5	2133	5	SIN3B	19	16980447	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1677626	16980447	42148536	1433	22027											
CPAMD8	27151	broad.mit.edu	37	chr19	17137400	17137400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcgcacgccgtcccgcgccGacagcagcaggagcaggagc	15	17	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:17137400G>A	uc002nfb.2	-	1	226	c.194C>T	c.(193-195)TCG>TTG	p.S65L		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	18						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						GTCCCGCGCCGACAGCAGCAG	0.587													A	17137400	G	A	17137400	3	1	23	1	0	0	0	0	1	0	0	0	3795	1059	37	1	5772	1	CPAMD8	19	17137400	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	156953	17137400	41991583	1434	22028											
NR2F6	2063	broad.mit.edu	37	chr19	17343237	17343237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcagtgtctcaatgggcGtcttccccaccaggcgcatg	11	13	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:17343237G>A	uc002nfq.2	-	4	1261	c.1139C>T	c.(1138-1140)ACG>ATG	p.T380M		NM_005234	NP_005225	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	380	Important for dimerization (By similarity).|Ligand-binding (By similarity).				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding				0						CTCAATGGGCGTCTTCCCCAC	0.667													A	17343237	G	A	17343237	3	1	23	1	0	0	0	0	1	0	0	0	10629	1145	40	1	79	1	NR2F6	19	17343237	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	205837	17343237	41785746	1435	22029											
ANO8	57719	broad.mit.edu	37	chr19	17441686	17441686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccccaggtgagtccagcGtcccccacttatatgccagc	8	17	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:17441686G>A	uc002ngf.2	-	8	1103	c.944C>T	c.(943-945)ACG>ATG	p.T315M	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	315	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(3)	3						TGAGTCCAGCGTCCCCCACTT	0.592													A	17441686	G	A	17441686	3	1	23	1	0	0	0	0	1	0	0	0	703	1145	40	1	2798	1	ANO8	19	17441686	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	98449	17441686	41687297	1436	22030											
UPF1	5976	broad.mit.edu	37	chr19	18967769	18967769	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgctccattttaatcgaCgaaagcacccaggccaccga	7	15	0	0	rs140516243		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:18967769C>T	uc002nkg.2	+	14	2216	c.1941C>T	c.(1939-1941)GAC>GAT	p.D647D	UPF1_uc002nkf.2_Silent_p.D636D|UPF1_uc002nkh.2_5'Flank	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	647				DE->AA: Loss of ATPase activity and helicase activity.	cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						TTTTAATCGACGAAAGCACCC	0.622													T	18967769	C	T	18967769	2	4	23	1	0	0	0	0	0	0	0	1	17000	535	19	1		1	UPF1	19	18967769	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1526083	18967769	40161214	1437	22031											
ZNF536	9745	broad.mit.edu	37	chr19	30936135	30936135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacactttggcaaacgccGgggttctgtttgataaggag	13	7	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:30936135G>A	uc002nsu.1	+	2	1804	c.1666G>A	c.(1666-1668)GGG>AGG	p.G556R	ZNF536_uc010edd.1_Missense_Mutation_p.G556R	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GGCAAACGCCGGGGTTCTGTT	0.542													A	30936135	G	A	30936135	3	1	23	1	0	0	0	0	1	0	0	0	17971	1116	39	1	1668	1	ZNF536	19	30936135	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	11968366	30936135	28192848	1438	22032											
ZNF536	9745	broad.mit.edu	37	chr19	31039610	31039610	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gccaaccacctgggcaaagcGaaacgcaaagataacaccat	8	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:31039610G>T	uc002nsu.1	+	4	3222	c.3084G>T	c.(3082-3084)GCG>GCT	p.A1028A	ZNF536_uc010edd.1_Silent_p.A1028A	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1028					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					TGGGCAAAGCGAAACGCAAAG	0.542													T	31039610	G	T	31039610	2	4	23	1	0	0	0	0	0	0	0	1	17971	1045	37	5		5	ZNF536	19	31039610	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	103475	31039610	28089373	1439	22033											
ZNF536	9745	broad.mit.edu	37	chr19	31039805	31039805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctgggagagcagaagagCggtgcatggaccggccacgt	16	10	1	3	rs147863190		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:31039805C>T	uc002nsu.1	+	4	3417	c.3279C>T	c.(3277-3279)AGC>AGT	p.S1093S	ZNF536_uc010edd.1_Silent_p.S1093S	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1093					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					AGCAGAAGAGCGGTGCATGGA	0.537													T	31039805	C	T	31039805	2	4	23	1	0	0	0	0	0	0	0	1	17971	767	27	1		1	ZNF536	19	31039805	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	195	31039805	28089178	1440	22034											
SLC7A9	11136	broad.mit.edu	37	chr19	33355638	33355638	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacgaagatcccagagccAatgatggtgcccacgatgat	11	10	0	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:33355638A>G	uc002ntv.3	-	3	249	c.132T>C	c.(130-132)ATT>ATC	p.I44I	SLC7A9_uc002ntt.3_Intron|SLC7A9_uc002ntu.3_Silent_p.I44I|SLC7A9_uc002ntw.3_Intron	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	44	Helical; (Potential).		I -> T (in CSNU; type I).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	TCCCAGAGCCAATGATGGTGC	0.627													G	33355638	A	G	33355638	2	3	23	1	0	0	0	0	0	0	0	1	14705	126	5	3		3	SLC7A9	19	33355638	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	2315833	33355638	25773345	1441	22035											
PEPD	5184	broad.mit.edu	37	chr19	34002042	34002042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctcagtgacaccgaacGcccagtgaaagaaggactcc	11	13	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:34002042G>A	uc002nur.3	-	3	356	c.221C>T	c.(220-222)GCG>GTG	p.A74V	PEPD_uc010xrr.1_Missense_Mutation_p.A74V|PEPD_uc010xrs.1_Intron	NM_000285	NP_000276	P12955	PEPD_HUMAN	prolidase isoform 1	74					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			ovary(2)	2	Esophageal squamous(110;0.137)					GACACCGAACGCCCAGTGAAA	0.572													A	34002042	G	A	34002042	3	1	23	1	0	0	0	0	1	0	0	0	11728	1087	38	1	1312	1	PEPD	19	34002042	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	646404	34002042	25126941	1442	22036											
KCTD15	79047	broad.mit.edu	37	chr19	34297866	34297866	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagattttccgctacgtccTgagcttcctgcggacgtcca	11	13	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:34297866T>C	uc002nuy.3	+	5	609	c.341T>C	c.(340-342)CTG>CCG	p.L114P	KCTD15_uc002nuv.2_Missense_Mutation_p.L114P|KCTD15_uc002nuw.3_Missense_Mutation_p.L114P|KCTD15_uc010xrt.1_Missense_Mutation_p.L114P|KCTD15_uc002nux.3_Missense_Mutation_p.L114P	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	114	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)					CGCTACGTCCTGAGCTTCCTG	0.537													C	34297866	T	C	34297866	3	2	23	1	0	0	0	0	1	0	0	0	8102	1580	55	3	351	3	KCTD15	19	34297866	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	295824	34297866	24831117	1443	22037											
PDCD2L	84306	broad.mit.edu	37	chr19	34895868	34895868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcccagtgcctgcaggtGccagagagagaggcgcagga	16	12	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:34895868G>A	uc002nvj.2	+	3	342	c.309G>A	c.(307-309)GTG>GTA	p.V103V		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	103						cytoplasm				ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GCCTGCAGGTGCCAGAGAGAG	0.582													A	34895868	G	A	34895868	2	1	23	1	0	0	0	0	0	0	0	1	11620	1306	46	2		2	PDCD2L	19	34895868	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	598002	34895868	24233115	1444	22038											
ZNF30	90075	broad.mit.edu	37	chr19	35435665	35435665	+	Frame_Shift_Del	DEL	A	A	-													gtgagaaaccctttaaatgcAaaaaatgtgggaagaccttt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:35435664_35435664CA>C	uc010edq.1	+	4	2175	c.1797_1797CA>C	c.(1795-1797)tgcfs	p.C599fs	ZNF30_uc002nxf.2_Frame_Shift_Del_p.C517fs|ZNF30_uc010edp.1_Frame_Shift_Del_p.C598fs|ZNF30_uc010edr.1_Frame_Shift_Del_p.C599fs	NM_001099437	NP_001092908	P17039	ZNF30_HUMAN	Homo sapiens zinc finger protein 30 (ZNF30), transcript variant 2, mRNA.	598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CCTTTAAATGCAAAAAATGTG	0.408													-	35435665	A	-	35435665	7	5	23	1	0	1	0	1	0	0	0	0	17827	131	5	0	1812	0	ZNF30	19	35435665	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	539797	35435665	23693318	1445	22039											
MLL4	9757	broad.mit.edu	37	chr19	36210710	36210710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgccccgaggtcggggtcGcaagcataagacgacccccc	13	16	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:36210710G>A	uc010eei.2	+	3	461	c.461G>A	c.(460-462)CGC>CAC	p.R154H		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	154					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTCGGGGTCGCAAGCATAAG	0.557													A	36210710	G	A	36210710	3	1	23	1	0	0	0	0	1	0	0	0	9623	1087	38	1	471	1	MLL4	19	36210710	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	775045	36210710	22918273	1446	22040											
ARHGAP33	115703	broad.mit.edu	37	chr19	36271669	36271669	+	Frame_Shift_Del	DEL	C	C	-													cgcctagcagatgccgatggCcccccatgtggcatcccggc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:36271668_36271668GC>G	uc002obs.2	+	9	923	c.779_779GC>G	c.(778-780)ggcfs	p.G260fs	ARHGAP33_uc002obr.2_Frame_Shift_Del_p.G260fs|ARHGAP33_uc002obt.2_Frame_Shift_Del_p.G124fs|ARHGAP33_uc002obv.1_5'Flank	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	260					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GATGCCGATGGCCCCCCATGT	0.632													-	36271669	C	-	36271669	7	5	23	1	0	1	0	1	0	0	0	0	882	726	26	0	818	0	ARHGAP33	19	36271669	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	60959	36271669	22857314	1447	22041											
ZNF790	388536	broad.mit.edu	37	chr19	37310215	37310215	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccacgagtaaaagctttcCcacactccttacattcataa	3	13	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:37310215C>A	uc002oew.2	-	5	1150	c.1031G>T	c.(1030-1032)GGG>GTG	p.G344V	uc002oev.1_Intron	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	zinc finger protein 790	344	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAAAGCTTTCCCACACTCCTT	0.383													A	37310215	C	A	37310215	3	1	23	1	0	0	0	0	1	0	0	0	18159	623	22	5	883	5	ZNF790	19	37310215	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1038546	37310215	21818768	1448	22042											
ZNF829	374899	broad.mit.edu	37	chr19	37383204	37383204	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtgagttttgattaaaggtCtttccacatatcttacattc	6	7	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:37383204C>A	uc002ofa.1	-	6	851	c.489G>T	c.(487-489)AAG>AAT	p.K163N	ZNF345_uc002oez.2_Intron	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	163	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATTAAAGGTCTTTCCACATA	0.368													A	37383204	C	A	37383204	3	1	23	1	0	0	0	0	1	0	0	0	18179	912	32	5	813	5	ZNF829	19	37383204	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	72989	37383204	21745779	1449	22043											
HKR1	284459	broad.mit.edu	37	chr19	37854119	37854119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttatgtctgcctggagtgCgggcagtgctttagcctgaa	13	10	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:37854119C>T	uc002ogb.2	+	6	1691	c.1422C>T	c.(1420-1422)TGC>TGT	p.C474C	HKR1_uc002ofx.2_Silent_p.C190C|HKR1_uc002ofy.2_Silent_p.C190C|HKR1_uc002oga.2_Silent_p.C456C|HKR1_uc010xto.1_Silent_p.C456C|HKR1_uc002ogc.2_Silent_p.C455C|HKR1_uc010xtp.1_Silent_p.C413C|HKR1_uc002ogd.2_Silent_p.C413C	NM_181786	NP_861451	P10072	HKR1_HUMAN	GLI-Kruppel family member HKR1	474	C2H2-type 7.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCCTGGAGTGCGGGCAGTGCT	0.502													T	37854119	C	T	37854119	2	4	23	1	0	0	0	0	0	0	0	1	7194	776	27	1		1	HKR1	19	37854119	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	470915	37854119	21274864	1450	22044											
ZNF607	84775	broad.mit.edu	37	chr19	38190221	38190221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagtatgaatactctgatGtactttaaggcctgctttga	8	8	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:38190221G>A	uc002ohc.1	-	5	1407	c.811C>T	c.(811-813)CAT>TAT	p.H271Y	ZNF607_uc002ohb.1_Missense_Mutation_p.H270Y	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	271	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATACTCTGATGTACTTTAAGG	0.428													A	38190221	G	A	38190221	3	1	23	1	0	0	0	0	1	0	0	0	18030	1377	48	4	1283	4	ZNF607	19	38190221	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	336102	38190221	20938762	1451	22045											
SIPA1L3	23094	broad.mit.edu	37	chr19	38579399	38579399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggatgagaagctggggCcagtggctgtgagcattaag	18	6	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:38579399C>T	uc002ohk.2	+	4	2082	c.1573C>T	c.(1573-1575)CCA>TCA	p.P525S		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	525					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GAAGCTGGGGCCAGTGGCTGT	0.582													T	38579399	C	T	38579399	3	4	23	1	0	0	0	0	1	0	0	0	14331	739	26	2	1579	2	SIPA1L3	19	38579399	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	389178	38579399	20549584	1452	22046											
GGN	199720	broad.mit.edu	37	chr19	38876201	38876201	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccagtctgagaggccccGctgccaccaccccctccacc	8	23	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:38876201G>A	uc002oij.1	-	3	1836	c.1701C>T	c.(1699-1701)AGC>AGT	p.S567S	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Intron	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	567	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).|Poly-Gly.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAGAGGCCCCGCTGCCACCAC	0.657													A	38876201	G	A	38876201	2	1	23	1	0	0	0	0	0	0	0	1	6358	1078	38	1		1	GGN	19	38876201	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	296802	38876201	20252782	1453	22047											
CLC	1178	broad.mit.edu	37	chr19	40225698	40225698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagtagacaaagaggcagCctctgtgtatggcacctgcc	11	12	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:40225698C>T	uc002omh.2	-	2	107	c.31G>A	c.(31-33)GCT>ACT	p.A11T		NM_001828	NP_001819	Q05315	LPPL_HUMAN	Charcot-Leyden crystal protein	11	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding				0	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		AAAGAGGCAGCCTCTGTGTAT	0.547													T	40225698	C	T	40225698	3	4	23	1	0	0	0	0	1	0	0	0	3456	739	26	2	409	2	CLC	19	40225698	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1349497	40225698	18903285	1454	22048											
PSMC4	5704	broad.mit.edu	37	chr19	40480659	40480659	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagatcggcatcgatcccccCcgaggcgtcctcatgtatgg	11	15	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:40480659C>A	uc002omq.2	+	6	634	c.597C>A	c.(595-597)CCC>CCA	p.P199P	PSMC4_uc002omr.2_Silent_p.P168P	NM_006503	NP_006494	P43686	PRS6B_HUMAN	proteasome 26S ATPase subunit 4 isoform 1	199					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			ovary(1)	1	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCGATCCCCCCCGAGGCGTCC	0.622													A	40480659	C	A	40480659	2	1	23	1	0	0	0	0	0	0	0	1	12689	610	22	5		5	PSMC4	19	40480659	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	254961	40480659	18648324	1455	22049											
SPTBN4	57731	broad.mit.edu	37	chr19	41060057	41060057	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctcctgcccccagggccTgcggcgggagatccaggcgc	14	17	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:41060057T>C	uc002ony.2	+	23	4765	c.4679T>C	c.(4678-4680)CTG>CCG	p.L1560P	SPTBN4_uc002onx.2_Missense_Mutation_p.L1560P|SPTBN4_uc002onz.2_Missense_Mutation_p.L1560P|SPTBN4_uc010egx.2_Missense_Mutation_p.L303P|SPTBN4_uc010egy.1_Missense_Mutation_p.L236P|SPTBN4_uc002ooa.2_Missense_Mutation_p.L236P	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1560	Spectrin 13.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCCAGGGCCTGCGGCGGGAG	0.746													C	41060057	T	C	41060057	3	2	23	1	0	0	0	0	1	0	0	0	15120	1580	55	3	4765	3	SPTBN4	19	41060057	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	579398	41060057	18068926	1456	22050											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41778132	41778132	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtactttgagcaccgagaGgataggaggtgggtgtatga	18	4	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:41778132G>T	uc002oqb.3	+	3	853	c.564G>T	c.(562-564)GAG>GAT	p.E188D	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.E88D|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.E88D|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.E188D|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.E145D|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.E88D|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.E88D|HNRNPUL1_uc010eho.2_Missense_Mutation_p.E88D|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.E88D|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.E44D|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.E88D	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	188					nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						AGCACCGAGAGGATAGGAGGT	0.532													T	41778132	G	T	41778132	3	4	23	1	0	0	0	0	1	0	0	0	7274	991	35	5	574	5	HNRNPUL1	19	41778132	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	718075	41778132	17350851	1457	22051											
DMRTC2	63946	broad.mit.edu	37	chr19	42352907	42352907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccatcccccggaagcctcGcccttgtcctggactccggt	10	18	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:42352907G>A	uc002ors.2	+	5	575	c.492G>A	c.(490-492)TCG>TCA	p.S164S	DMRTC2_uc002orr.1_Silent_p.S41S|DMRTC2_uc010xwe.1_Silent_p.S164S	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	164	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0						CGGAAGCCTCGCCCTTGTCCT	0.647													A	42352907	G	A	42352907	2	1	23	1	0	0	0	0	0	0	0	1	4591	1074	38	1		1	DMRTC2	19	42352907	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	574775	42352907	16776076	1458	22052											
ATP1A3	478	broad.mit.edu	37	chr19	42482921	42482921	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcaggtatcggttgtcGttggggtcctcggtctcatg	14	10	1	0	rs138797500		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:42482921G>A	uc002osg.2	-	12	1621	c.1467C>T	c.(1465-1467)AAC>AAT	p.N489N	ATP1A3_uc010xwf.1_Silent_p.N500N|ATP1A3_uc010xwg.1_Silent_p.N459N|ATP1A3_uc010xwh.1_Silent_p.N502N|ATP1A3_uc002osh.2_Silent_p.N489N	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	489	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						ATCGGTTGTCGTTGGGGTCCT	0.647													A	42482921	G	A	42482921	2	1	23	1	0	0	0	0	0	0	0	1	1130	1136	40	1		1	ATP1A3	19	42482921	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	130014	42482921	16646062	1459	22053											
ATP1A3	478	broad.mit.edu	37	chr19	42492106	42492106	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgttgtcaccagaggggtcGtcctcggtgcccgcctggat	14	13	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:42492106G>A	uc002osg.2	-	4	493	c.339C>T	c.(337-339)GAC>GAT	p.D113D	ATP1A3_uc010xwf.1_Silent_p.D124D|ATP1A3_uc010xwg.1_Silent_p.D83D|ATP1A3_uc010xwh.1_Silent_p.D126D|ATP1A3_uc002osh.2_Silent_p.D113D	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	113	Extracellular (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						CAGAGGGGTCGTCCTCGGTGC	0.587													A	42492106	G	A	42492106	2	1	23	1	0	0	0	0	0	0	0	1	1130	1136	40	1		1	ATP1A3	19	42492106	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	9185	42492106	16636877	1460	22054											
CIC	23152	broad.mit.edu	37	chr19	42797376	42797376	+	Frame_Shift_Del	DEL	C	C	-													actcccacggcccggagcagCcccccactgcccccacctgc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:42797376delC	uc002otf.1	+	15	3778	c.3738delC	c.(3736-3738)AGCfs	p.S1246fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1246	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CCCGGAGCAGCCCCCCACTGC	0.706			T	DUX4	soft tissue sarcoma								-	42797376	C	-	42797376	7	5	23	1	0	1	0	1	0	0	0	0	3424	738	26	0	3796	0	CIC	19	42797376	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	305270	42797376	16331607	1461	22055											
MEGF8	1954	broad.mit.edu	37	chr19	42847703	42847703	+	Frame_Shift_Del	DEL	G	G	-													gcagcgtcctgttggtggctGgggggtacagcggccggccc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:42847702_42847702TG>T	uc002otl.4	+	8	2222	c.1587_1587TG>T	c.(1585-1587)gctfs	p.A529fs	MEGF8_uc002otm.4_Frame_Shift_Del_p.A70fs	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	529						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGTTGGTGGCTGGGGGGTACA	0.642													-	42847703	G	-	42847703	7	5	23	1	0	1	0	1	0	0	0	0	9463	1348	47	0	1622	0	MEGF8	19	42847703	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	50327	42847703	16281280	1462	22056											
ZNF233	353355	broad.mit.edu	37	chr19	44778628	44778629	+	Frame_Shift_Del	DEL	AT	AT	-													aaaggcttcatctggaactcAtatcttcatgttcatcagag					rs146078644	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:44778627_44778628CAT>C	uc021uvi.1	+	4	1920_1921	c.1814_1815CAT>C	c.(1813-1815)tcafs	p.S605fs	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_Frame_Shift_Del_p.S420fs|ZNF233_uc002oyz.2_Frame_Shift_Del_p.S605fs	NM_001207005	NP_001193934	A6NK53	ZN233_HUMAN	Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA.	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S605L(2)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				ATCTGGAACTCATATCTTCATG	0.45													-	44778629	AT	-	44778628	7	5	23	1	0	1	0	1	0	0	0	0	17783	204	8	0	1829	0	ZNF233	19	44778628	Frame_Shift_Del	DEL	AT	TCGA-BR-4368-01A-01D-1158-08	1930925	44778628	14350355	1463	22057											
SYMPK	8189	broad.mit.edu	37	chr19	46332457	46332457	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggctggccaggatctttaTgcggacctggtgggagggtg	18	8	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:46332457T>C	uc002pdn.2	-	14	2001	c.1756A>G	c.(1756-1758)ATA>GTA	p.I586V	SYMPK_uc002pdo.1_Missense_Mutation_p.I586V|SYMPK_uc002pdp.1_Missense_Mutation_p.I586V	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	586					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AGGATCTTTATGCGGACCTGG	0.632													C	46332457	T	C	46332457	3	2	23	1	0	0	0	0	1	0	0	0	15436	1464	51	3	2124	3	SYMPK	19	46332457	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	1553829	46332457	12796526	1464	22058											
PPP5C	5536	broad.mit.edu	37	chr19	46888085	46888085	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaatggtgactttgtggacCgaggctccttctctgtagaa	11	8	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:46888085C>A	uc002pem.2	+	7	883	c.823C>A	c.(823-825)CGA>AGA	p.R275R	PPP5C_uc010xya.1_Silent_p.R142R|PPP5C_uc002pen.2_Silent_p.R253R|PPP5C_uc010xyb.1_Silent_p.R133R	NM_006247	NP_006238	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	275	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			lung(1)|pancreas(1)	2		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CTTTGTGGACCGAGGCTCCTT	0.547													A	46888085	C	A	46888085	2	1	23	1	0	0	0	0	0	0	0	1	12406	644	23	5		5	PPP5C	19	46888085	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	555628	46888085	12240898	1465	22059											
CCDC8	83987	broad.mit.edu	37	chr19	46915402	46915402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggccagccgggcctcGcccaccccggggcccgccct	15	20	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:46915402G>A	uc002pep.2	-	1	1518	c.666C>T	c.(664-666)GGC>GGT	p.G222G		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	222						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCCGGGCCTCGCCCACCCCGG	0.701													A	46915402	G	A	46915402	2	1	23	1	0	0	0	0	0	0	0	1	2853	1074	38	1		1	CCDC8	19	46915402	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	27317	46915402	12213581	1466	22060											
TMEM143	55260	broad.mit.edu	37	chr19	48866695	48866695	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatgagagggcccgggggggCccgaggagcgcgggcaacag	22	10	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:48866695C>G	uc002pix.1	-	2	126	c.117G>C	c.(115-117)GGG>GGC	p.G39G	TMEM143_uc002piw.1_RNA|TMEM143_uc002piy.1_Silent_p.G39G|TMEM143_uc010xzn.1_Silent_p.G39G|TMEM143_uc010elw.1_Silent_p.G39G|TMEM143_uc010xzo.1_Intron|TMEM143_uc010xzp.1_Silent_p.G39G|TMEM143_uc010xzq.1_Silent_p.G39G|SYNGR4_uc002piz.2_5'Flank	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	transmembrane protein 143	39						integral to membrane|mitochondrion					0		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		CCCGGGGGGGCCCGAGGAGCG	0.677													G	48866695	C	G	48866695	2	3	23	1	0	0	0	0	0	0	0	1	16054	726	26	5		5	TMEM143	19	48866695	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1951293	48866695	10262288	1467	22061											
KCNJ14	3770	broad.mit.edu	37	chr19	48965204	48965204	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagggcgcgcgctacctgAgcgacctgttcaccacatgc	12	16	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:48965204A>C	uc002pje.1	+	2	628	c.223A>C	c.(223-225)AGC>CGC	p.S75R	KCNJ14_uc002pjf.1_Missense_Mutation_p.S75R	NM_013348	NP_037480	Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel J14	75	Cytoplasmic (By similarity).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			skin(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		GCGCTACCTGAGCGACCTGTT	0.662													C	48965204	A	C	48965204	3	2	23	1	0	0	0	0	1	0	0	0	8048	304	11	5	225	5	KCNJ14	19	48965204	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	98509	48965204	10163779	1468	22062											
PPP1R15A	23645	broad.mit.edu	37	chr19	49377689	49377689	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagaggacacagaggaggAggaagatgaggacagtgata	18	3	0	5			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:49377689A>G	uc002pky.3	+	2	1468	c.1199A>G	c.(1198-1200)GAG>GGG	p.E400G		NM_014330	NP_055145	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	400	4 X 34 AA approximate repeats.|Glu-rich.|2.|Interaction with SMAD7.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			lung(1)	1		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		ACAGAGGAGGAGGAAGATGAG	0.537													G	49377689	A	G	49377689	3	3	23	1	0	0	0	0	1	0	0	0	12363	304	11	3	1201	3	PPP1R15A	19	49377689	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	412485	49377689	9751294	1469	22063											
KCNA7	3743	broad.mit.edu	37	chr19	49573562	49573562	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cacgcccgcaatggcacacaGagagcccactatcttgccac	8	17	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:49573562G>C	uc002pmg.2	-	2	1485	c.1129C>G	c.(1129-1131)CTG>GTG	p.L377V		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related	377	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)	1		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		ATGGCACACAGAGAGCCCACT	0.557													C	49573562	G	C	49573562	3	2	23	1	0	0	0	0	1	0	0	0	8008	933	33	5	245	5	KCNA7	19	49573562	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	195873	49573562	9555421	1470	22064											
KCNA7	3743	broad.mit.edu	37	chr19	49575520	49575520	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgggcagccctcgtccTcgcgcaggcgtgccagggcc	15	18	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:49575520T>G	uc002pmg.2	-	1	679	c.323A>C	c.(322-324)GAG>GCG	p.E108A		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related	108						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)	1		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		GCCCTCGTCCTCGCGCAGGCG	0.761													G	49575520	T	G	49575520	3	3	23	1	0	0	0	0	1	0	0	0	8008	1551	54	5	1055	5	KCNA7	19	49575520	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	1958	49575520	9553463	1471	22065											
SCAF1	58506	broad.mit.edu	37	chr19	50148366	50148366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgccagacagagaccccaCgctttctccttctgccttta	6	17	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:50148366C>T	uc002poq.2	+	2	207	c.83C>T	c.(82-84)ACG>ATG	p.T28M		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	28					mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		AGAGACCCCACGCTTTCTCCT	0.632													T	50148366	C	T	50148366	3	4	23	1	0	0	0	0	1	0	0	0	13868	536	19	1	85	1	SCAF1	19	50148366	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	572846	50148366	8980617	1472	22066											
BCL2L12	83596	broad.mit.edu	37	chr19	50173596	50173596	+	Frame_Shift_Del	DEL	C	C	-													caagccgagcatgccccgggCccccgcctccttccccggag							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:50173596delC	uc002ppa.2	+	6	1487	c.805delC	c.(805-807)CCCfs	p.P269fs	BCL2L12_uc002ppb.2_Frame_Shift_Del_p.P268fs	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	BCL2-like 12 isoform 1	269					apoptosis					central_nervous_system(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		ATGCCCCGGGCCCCCGCCTCC	0.731													-	50173596	C	-	50173596	7	5	23	1	0	1	0	1	0	0	0	0	1370	739	26	0	827	0	BCL2L12	19	50173596	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	25230	50173596	8955387	1473	22067											
AP2A1	160	broad.mit.edu	37	chr19	50302683	50302683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctggagagcatgtgcacGctggccagctccgagttctc	13	14	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:50302683G>A	uc002ppn.2	+	9	1276	c.1065G>A	c.(1063-1065)ACG>ACA	p.T355T	AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Silent_p.T355T|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	355					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GCATGTGCACGCTGGCCAGCT	0.642													A	50302683	G	A	50302683	2	1	23	1	0	0	0	0	0	0	0	1	739	1074	38	1		1	AP2A1	19	50302683	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	129087	50302683	8826300	1474	22068											
NR1H2	7376	broad.mit.edu	37	chr19	50880894	50880895	+	Frame_Shift_Ins	INS	-	-	C													accacgagttccctggatacINSccccctgcctggtgagtgac							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:50880893_50880894A>AC	uc010enw.3	+	2	500_501	c.31_32A>AC	c.(31-33)accfs	p.T11fs	NR1H2_uc002prv.4_Non-coding_Transcript|NR1H2_uc002psa.4_Frame_Shift_Ins_p.T11fs	NM_007121	NP_009052	P55055	NR1H2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA.	11					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TTCCCTGGATACCCCCCTGCCT	0.564													C	50880895	-	C	50880894	7	5	23	1	0	1	1	0	0	0	0	0	10617	507	18	0	34	0	NR1H2	19	50880894	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	578211	50880894	8248089	1475	22069											
MYBPC2	4606	broad.mit.edu	37	chr19	50957532	50957533	+	Frame_Shift_Ins	INS	-	-	C													cccctgcagatgtcccagacINScccccggaggctgtgcgcat							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:50957531_50957532A>AC	uc002psf.2	+	17	1970_1971	c.1919_1920A>AC	c.(1918-1920)gacfs	p.D640fs		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	640	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GATGTCCCAGACCCCCCGGAGG	0.639													C	50957533	-	C	50957532	7	5	23	1	0	1	1	0	0	0	0	0	10012	506	18	0	1990	0	MYBPC2	19	50957532	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	76638	50957532	8171451	1476	22070											
ZNF432	9668	broad.mit.edu	37	chr19	52538109	52538109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgatgttcaatcagacGgctcttcatagtgaagactt	9	9	4	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:52538109G>A	uc002pyk.2	-	5	1141	c.823C>T	c.(823-825)CGT>TGT	p.R275C		NM_014650	NP_055465	O94892	ZN432_HUMAN	zinc finger protein 432	275	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|pancreas(1)	3		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCAATCAGACGGCTCTTCATA	0.393													A	52538109	G	A	52538109	3	1	23	1	0	0	0	0	1	0	0	0	17903	1116	39	1	1139	1	ZNF432	19	52538109	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1580577	52538109	6590874	1477	22071											
NLRP12	91662	broad.mit.edu	37	chr19	54314259	54314259	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggacttgcctatccctgcCgcgccttgcatgaccacggt	10	15	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:54314259C>T	uc002qch.3	-	3	874	c.654G>A	c.(652-654)GCG>GCA	p.A218A	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.A218A|NLRP12_uc002qcj.3_Silent_p.A218A|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.A218A	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	218	NACHT.|ATP (Potential).				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTATCCCTGCCGCGCCTTGCA	0.592													T	54314259	C	T	54314259	2	4	23	1	0	0	0	0	0	0	0	1	10474	639	23	1		1	NLRP12	19	54314259	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1776150	54314259	4814724	1478	22072											
LILRB1	10859	broad.mit.edu	37	chr19	55143507	55143509	+	In_Frame_Del	DEL	AGA	AGA	-													ttcagtctgtgtaaggaaggAgaagatgaacacccacaatg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:55143506_55143508GAGA>G	uc002qgj.3	+	5	819_821	c.479_481GAGA>G	c.(478-483)ggagaa>gGaa	p.E161del	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_In_Frame_Del_p.E161del|LILRB1_uc002qgk.3_In_Frame_Del_p.E161del|LILRB1_uc002qgm.3_In_Frame_Del_p.E161del|LILRB1_uc010erq.3_In_Frame_Del_p.E161del|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	161	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGTAAGGAAGGAGAAGATGAACA	0.606										HNSCC(37;0.09)			-	55143509	AGA	-	55143507	7	5	23	1	0	1	0	1	0	0	0	0	8790	291	11	0	494	0	LILRB1	19	55143507	In_Frame_Del	DEL	AGA	TCGA-BR-4368-01A-01D-1158-08	829248	55143507	3985476	1479	22073											
EPS8L1	54869	broad.mit.edu	37	chr19	55593853	55593853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgggggggccggagttcgCgagcagtgtgcggcggccgc	22	11	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:55593853C>T	uc002qis.3	+	12	1201	c.1097C>T	c.(1096-1098)GCG>GTG	p.A366V	EPS8L1_uc010ess.1_Missense_Mutation_p.A348V|EPS8L1_uc010est.1_Missense_Mutation_p.A366V|EPS8L1_uc010yfr.1_Missense_Mutation_p.A302V|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Missense_Mutation_p.A239V|EPS8L1_uc002qiv.2_Missense_Mutation_p.A12V|EPS8L1_uc002qiw.2_Missense_Mutation_p.A113V	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	epidermal growth factor receptor pathway	366						cytoplasm					0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCGGAGTTCGCGAGCAGTGTG	0.657													T	55593853	C	T	55593853	3	4	23	1	0	0	0	0	1	0	0	0	5195	768	27	1	1191	1	EPS8L1	19	55593853	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	450346	55593853	3535130	1480	22074											
ZNF628	89887	broad.mit.edu	37	chr19	55995118	55995118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcacaggaagtaaccaCggtccagctccagccagcac	10	16	0	0	rs151142470	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:55995118C>T	uc002qld.2	+	3	3111	c.2546C>T	c.(2545-2547)ACG>ATG	p.T849M	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	849	3.|4 X approximate tandem repeats.					nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GAAGTAACCACGGTCCAGCTC	0.657													T	55995118	C	T	55995118	3	4	23	1	0	0	0	0	1	0	0	0	18049	536	19	1	2548	1	ZNF628	19	55995118	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	401265	55995118	3133865	1481	22075											
NLRP4	147945	broad.mit.edu	37	chr19	56379209	56379209	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccccttttgtgtgaagcccTgtgcagcccagacacggtcc	11	15	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:56379209T>C	uc002qmd.3	+	6	2743	c.2321T>C	c.(2320-2322)CTG>CCG	p.L774P	NLRP4_uc002qmf.2_Missense_Mutation_p.L699P|NLRP4_uc010etf.2_Intron	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	774	LRR 4.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGTGAAGCCCTGTGCAGCCCA	0.537													C	56379209	T	C	56379209	3	2	23	1	0	0	0	0	1	0	0	0	10479	1580	55	3	2339	3	NLRP4	19	56379209	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	384091	56379209	2749774	1482	22076											
ZFP28	140612	broad.mit.edu	37	chr19	57065621	57065621	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaagctttcatacagaacacAtcccttatccgtcactggag	6	12	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:57065621A>T	uc002qnj.2	+	8	1538	c.1467A>T	c.(1465-1467)ACA>ACT	p.T489T	uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	zinc finger protein 28	489	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TACAGAACACATCCCTTATCC	0.478													T	57065621	A	T	57065621	2	4	23	1	0	0	0	0	0	0	0	1	17639	204	8	5		5	ZFP28	19	57065621	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	686412	57065621	2063362	1483	22077											
ZNF71	58491	broad.mit.edu	37	chr19	57133351	57133351	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcctctctcacccagcaCgagcggatccacacggggga	10	16	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:57133351C>T	uc002qnm.3	+	3	934	c.696C>T	c.(694-696)CAC>CAT	p.H232H		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	232	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TCACCCAGCACGAGCGGATCC	0.642													T	57133351	C	T	57133351	2	4	23	1	0	0	0	0	0	0	0	1	18111	535	19	1		1	ZNF71	19	57133351	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	67730	57133351	1995632	1484	22078											
ZIM3	114026	broad.mit.edu	37	chr19	57647457	57647457	+	Frame_Shift_Del	DEL	T	T	-													tctgccctccaatgtccccaTttttttctaaaatggaatac							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:57647456_57647456AT>A	uc002qnz.1	-	4	635	c.249_249AT>T	c.(247-249)aatfs	p.N83fs		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAATGTCCCCATTTTTTTCTA	0.383													-	57647457	T	-	57647457	7	5	23	1	0	1	0	1	0	0	0	0	17682	1493	52	0	1174	0	ZIM3	19	57647457	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	514106	57647457	1481526	1485	22079											
AURKC	6795	broad.mit.edu	37	chr19	57746748	57746748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgggttcaggcccactcccGaagggtgctgcctccctgtg	13	15	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:57746748G>A	uc002qoe.2	+	7	1082	c.893G>A	c.(892-894)CGA>CAA	p.R298Q	AURKC_uc002qoc.2_Missense_Mutation_p.R279Q|AURKC_uc002qod.2_Missense_Mutation_p.R264Q|AURKC_uc010etv.2_Missense_Mutation_p.R295Q	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	298					cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		GCCCACTCCCGAAGGGTGCTG	0.617													A	57746748	G	A	57746748	3	1	23	1	0	0	0	0	1	0	0	0	1224	1058	37	1	924	1	AURKC	19	57746748	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	99291	57746748	1382235	1486	22080											
VN1R1	57191	broad.mit.edu	37	chr19	57967320	57967320	+	Frame_Shift_Del	DEL	G	G	-													agatgcattcatcaagacatGgggggcccagcagaggagac							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:57967319_57967319TG>T	uc002qos.2	-	0	789	c.536_536CA>A	c.(535-537)catfs	p.H179fs		NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN	Homo sapiens vomeronasal 1 receptor 1 (VN1R1), mRNA.	179					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		CATCAAGACATGGGGGGCCCA	0.423													-	57967320	G	-	57967320	7	5	23	1	0	1	0	1	0	0	0	0	17175	1348	47	0	530	0	VN1R1	19	57967320	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	220572	57967320	1161663	1487	22081											
ZNF772	400720	broad.mit.edu	37	chr19	57987127	57987127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcctgggagaagtacaCgaacacgtcctcaaagttca	8	13	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:57987127C>T	uc002qot.2	-	3	361	c.100G>A	c.(100-102)GTG>ATG	p.V34M	ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Missense_Mutation_p.V34M|ZNF772_uc010ygz.1_Intron|ZNF772_uc010yha.1_Missense_Mutation_p.V21M|ZNF772_uc002qou.2_Intron	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	zinc finger protein 772 isoform 1	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		GAGAAGTACACGAACACGTCC	0.567													T	57987127	C	T	57987127	3	4	23	1	0	0	0	0	1	0	0	0	18142	536	19	1	1381	1	ZNF772	19	57987127	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	19807	57987127	1141856	1488	22082											
ZNF154	7710	broad.mit.edu	37	chr19	58213887	58213887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaacaagtgtgtgtttacCgctgaatgcttttgtgtgtt	11	6	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:58213887C>T	uc010euf.2	-	3	670	c.430G>A	c.(430-432)GGT>AGT	p.G144S	ZNF776_uc002qpx.2_Intron|ZNF154_uc002qpy.2_RNA	NM_001085384	NP_001078853	Q13106	ZN154_HUMAN	zinc finger protein 154	144	C2H2-type 2; degenerate.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGTGTTTACCGCTGAATGCT	0.443													T	58213887	C	T	58213887	3	4	23	1	0	0	0	0	1	0	0	0	17732	652	23	1	887	1	ZNF154	19	58213887	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	226760	58213887	915096	1489	22083											
ZNF552	79818	broad.mit.edu	37	chr19	58320008	58320008	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacagctgtaatggcttttTcccccatgaaacagagacac	7	13	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:58320008T>C	uc002qqg.2	-	3	794	c.624A>G	c.(622-624)GGA>GGG	p.G208G	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Silent_p.G204G	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	zinc finger protein 552	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AATGGCTTTTTCCCCCATGAA	0.463													C	58320008	T	C	58320008	2	2	23	1	0	0	0	0	0	0	0	1	17981	1770	62	3		3	ZNF552	19	58320008	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08	106121	58320008	808975	1490	22084											
ZNF418	147686	broad.mit.edu	37	chr19	58438151	58438151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgttcaatgaggtgggaCttgcccctaaataatttcct	10	8	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:58438151C>T	uc002qqs.1	-	4	1690	c.1398G>A	c.(1396-1398)AAG>AAA	p.K466K	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Silent_p.K381K	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	466	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TGAGGTGGGACTTGCCCCTAA	0.443													T	58438151	C	T	58438151	2	4	23	1	0	0	0	0	0	0	0	1	17892	564	20	4		4	ZNF418	19	58438151	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	118143	58438151	690832	1491	22085											
ZBTB45	84878	broad.mit.edu	37	chr19	59025430	59025430	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcgccatcagggcgcAgggtgcgccgccaggtggcg	17	16	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:59025430A>C	uc002qtd.2	-	3	1819	c.1527T>G	c.(1525-1527)CCT>CCG	p.P509P	SLC27A5_uc002qtc.2_5'Flank|ZBTB45_uc002qte.2_Silent_p.P509P|ZBTB45_uc002qtf.2_Silent_p.P509P	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		ATCAGGGCGCAGGGTGCGCCG	0.766													C	59025430	A	C	59025430	2	2	23	1	0	0	0	0	0	0	0	1	17543	175	7	5		5	ZBTB45	19	59025430	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	587279	59025430	103553	1492	22086											
RBCK1	10616	broad.mit.edu	37	chr20	398429	398429	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtgggtgattgggcaGcggctggcacgagaccagga	18	9	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:398429G>A	uc002wdp.3	+	4	1008	c.315G>A	c.(313-315)CAG>CAA	p.Q105Q	RBCK1_uc010zpl.1_Silent_p.Q105Q|RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Silent_p.Q63Q|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_5'UTR	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing	105	Interaction with IRF3.|Ubiquitin-like.|Interaction with RNF31.|Interaction with TAB2.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				TGATTGGGCAGCGGCTGGCAC	0.483													A	398429	G	A	398429	2	1	23	1	0	0	0	0	0	0	0	1	13107	962	34	2		2	RBCK1	20	398429	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08		398429	62627091	1493	22087											
ZNF343	79175	broad.mit.edu	37	chr20	2465000	2465000	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgttgccttttctaggacTtgctgactgtctttggagtg	11	8	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:2465000T>G	uc002wge.1	-	6	1095	c.607A>C	c.(607-609)AGT>CGT	p.S203R	ZNF343_uc010gao.1_Missense_Mutation_p.S203R|ZNF343_uc002wgd.1_Missense_Mutation_p.S113R	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TTTCTAGGACTTGCTGACTGT	0.522													G	2465000	T	G	2465000	3	3	23	1	0	0	0	0	1	0	0	0	17855	1609	56	5	1196	5	ZNF343	20	2465000	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	2066571	2465000	60560520	1494	22088											
BMP2	650	broad.mit.edu	37	chr20	6759174	6759174	+	Frame_Shift_Del	DEL	C	C	-													gtgggaaagttttgatgtcaCccccgctgtgatgcggtgga							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:6759173_6759173AC>A	uc002wmu.1	+	2	1413	c.628_628AC>A	c.(628-630)accfs	p.T210fs		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	210					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	TTTTGATGTCACCCCCGCTGT	0.527													-	6759174	C	-	6759174	7	5	23	1	0	1	0	1	0	0	0	0	1459	507	18	0	635	0	BMP2	20	6759174	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	4294174	6759174	56266346	1495	22089											
JAG1	182	broad.mit.edu	37	chr20	10622291	10622291	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcagctctgcccgctgggGcactcgctgtgccctttgtg	13	14	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:10622291G>A	uc002wnw.2	-	23	3249	c.2733C>T	c.(2731-2733)TGC>TGT	p.C911C	JAG1_uc010gcd.1_Silent_p.C469C	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	911	Extracellular (Potential).		C -> Y (in ALGS1).		angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						GCCCGCTGGGGCACTCGCTGT	0.617									Alagille_Syndrome				A	10622291	G	A	10622291	2	1	23	1	0	0	0	0	0	0	0	1	7934	1195	42	2		2	JAG1	20	10622291	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3863117	10622291	52403229	1496	22090											
SEL1L2	80343	broad.mit.edu	37	chr20	13839964	13839964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagattgaacatggcttgcgCgttgtggtatttgttggctg	14	6	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:13839964C>T	uc010gcf.2	-	18	1844	c.1762G>A	c.(1762-1764)GCG>ACG	p.A588T	SEL1L2_uc002woq.3_Missense_Mutation_p.A449T|SEL1L2_uc010zrl.1_Intron|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	588	Extracellular (Potential).|Sel1-like 11.					integral to membrane	binding			ovary(2)	2						ATGGCTTGCGCGTTGTGGTAT	0.403													T	13839964	C	T	13839964	3	4	23	1	0	0	0	0	1	0	0	0	14011	768	27	1	316	1	SEL1L2	20	13839964	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3217673	13839964	49185556	1497	22091											
FLRT3	23767	broad.mit.edu	37	chr20	14308143	14308143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaagatgctccaggctgCgctgatcatggtcagcagtg	15	9	2	2	rs142379846		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:14308143C>T	uc002wov.1	-	3	477	c.10G>A	c.(10-12)GCA>ACA	p.A4T	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.A4T	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	4					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CTCCAGGCTGCGCTGATCATG	0.438													T	14308143	C	T	14308143	3	4	23	1	0	0	0	0	1	0	0	0	5940	768	27	1	1943	1	FLRT3	20	14308143	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	468179	14308143	48717377	1498	22092											
SLC24A3	57419	broad.mit.edu	37	chr20	19673915	19673915	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttccagcgggtaaactggAaacagtgaaatgggcgttca	12	7	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:19673915A>G	uc002wrl.2	+	13	1534	c.1337A>G	c.(1336-1338)GAA>GGA	p.E446G		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	446	Cytoplasmic (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						GGTAAACTGGAAACAGTGAAA	0.433											OREG0025804	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	19673915	A	G	19673915	3	3	23	1	0	0	0	0	1	0	0	0	14467	246	9	3	1387	3	SLC24A3	20	19673915	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	5365772	19673915	43351605	1499	22093											
TMEM90B	79953	broad.mit.edu	37	chr20	24524024	24524024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatcctctattcagagggCgtgctgcgctcctgggggga	14	11	3	1	rs146291718	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:24524024C>T	uc002wtw.1	+	2	924	c.291C>T	c.(289-291)GGC>GGT	p.G97G		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	transmembrane protein 90B	97	Cytoplasmic (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane					0						ATTCAGAGGGCGTGCTGCGCT	0.652													T	24524024	C	T	24524024	2	4	23	1	0	0	0	0	0	0	0	1	16216	755	27	1		1	TMEM90B	20	24524024	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	4850109	24524024	38501496	1500	22094											
ASXL1	171023	broad.mit.edu	37	chr20	31023213	31023213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagttctttgcattggataCccatcccatcgaatgatgag	8	10	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:31023213C>T	uc002wxs.2	+	12	3124	c.2698C>T	c.(2698-2700)CCC>TCC	p.P900S	ASXL1_uc010geb.2_Missense_Mutation_p.P791S	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	900					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						GCATTGGATACCCATCCCATC	0.478			F|N|Mis		MDS|CMML								T	31023213	C	T	31023213	3	4	23	1	0	0	0	0	1	0	0	0	1066	507	18	4	2754	4	ASXL1	20	31023213	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	6499189	31023213	32002307	1501	22095											
DNMT3B	1789	broad.mit.edu	37	chr20	31375119	31375119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaccatcgacctcacagaCgacacagaggacacacatgg	8	14	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:31375119C>T	uc002wyc.2	+	6	837	c.516C>T	c.(514-516)GAC>GAT	p.D172D	DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Silent_p.D172D|DNMT3B_uc002wye.2_Silent_p.D172D|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Silent_p.D130D|DNMT3B_uc010zua.1_Silent_p.D96D|DNMT3B_uc002wyf.2_Silent_p.D184D	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	172	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5						ACCTCACAGACGACACAGAGG	0.652													T	31375119	C	T	31375119	2	4	23	1	0	0	0	0	0	0	0	1	4677	535	19	1		1	DNMT3B	20	31375119	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	351906	31375119	31650401	1502	22096											
C20orf70	140683	broad.mit.edu	37	chr20	31756984	31756984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaacttgttctcctgtgCggcgtgctcactgggacctc	12	12	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:31756984C>T	uc002wyo.1	+	2	104	c.33C>T	c.(31-33)TGC>TGT	p.C11C		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	chromosome 20 open reading frame 70 precursor	11						extracellular region	lipid binding			ovary(1)|central_nervous_system(1)	2						TTCTCCTGTGCGGCGTGCTCA	0.493													T	31756984	C	T	31756984	2	4	23	1	0	0	0	0	0	0	0	1	2116	776	27	1		1	C20orf70	20	31756984	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	381865	31756984	31268536	1503	22097											
ZNF341	84905	broad.mit.edu	37	chr20	32328795	32328795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaggccagagtgtcaatgCgccccctgctatccagccat	10	15	1	1	rs151120596	by1000genomes	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:32328795C>T	uc002wzy.2	+	2	139	c.119C>T	c.(118-120)GCG>GTG	p.A40V	ZNF341_uc002wzx.2_Missense_Mutation_p.A40V|ZNF341_uc010geq.2_Missense_Mutation_p.R16C|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						AGTGTCAATGCGCCCCCTGCT	0.557													T	32328795	C	T	32328795	3	4	23	1	0	0	0	0	1	0	0	0	17854	768	27	1	125	1	ZNF341	20	32328795	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	571811	32328795	30696725	1504	22098											
AHCY	191	broad.mit.edu	37	chr20	32878577	32878577	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttgatggggtcaatctcGgtgatgatgacgcgggctcc	16	9	2	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:32878577G>A	uc002xai.2	-	6	865	c.726C>T	c.(724-726)ACC>ACT	p.T242T	AHCY_uc002xaj.2_Silent_p.T214T	NM_000687	NP_000678	P23526	SAHH_HUMAN	adenosylhomocysteinase isoform 1	242					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding				0						GGTCAATCTCGGTGATGATGA	0.632													A	32878577	G	A	32878577	2	1	23	1	0	0	0	0	0	0	0	1	409	1103	39	1		1	AHCY	20	32878577	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	549782	32878577	30146943	1505	22099											
RBM12	10137	broad.mit.edu	37	chr20	34240741	34240746	+	In_Frame_Del	DEL	GGGCCG	GGGCCG	-													caccaatatggattgggccaGggccggggccggggccgggg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:34240740_34240745AGGGCCG>A	uc021wcr.1	-	0	2500_2505	c.2500_2505CGGCCCT>T	c.(2500-2505)ggccct>T	p.GP836del	CPNE1_uc010zvj.2_Intron|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_In_Frame_Del_p.GP836del|RBM12_uc002xds.3_In_Frame_Del_p.GP836del|RBM12_uc002xdr.3_In_Frame_Del_p.GP836del|RBM12_uc021wcq.1_In_Frame_Del_p.GP836del	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	836	Gly-rich.|Pro-rich.					nucleus	RNA binding|nucleotide binding|protein binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGATTgggccagggccggggccgggg	0.602													-	34240746	GGGCCG	-	34240741	7	5	23	1	0	1	0	1	0	0	0	0	13113	1000	35	0	298	0	RBM12	20	34240741	In_Frame_Del	DEL	GGGCCG	TCGA-BR-4368-01A-01D-1158-08	1362164	34240741	28784779	1506	22100											
DLGAP4	22839	broad.mit.edu	37	chr20	35060160	35060160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgcccccgccacctctccGacagcctagacccaccccac	6	25	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:35060160G>A	uc002xff.2	+	3	475	c.40G>A	c.(40-42)GAC>AAC	p.D14N	DLGAP4_uc010zvp.1_Missense_Mutation_p.D14N	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	14					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCACCTCTCCGACAGCCTAGA	0.726													A	35060160	G	A	35060160	3	1	23	1	0	0	0	0	1	0	0	0	4562	1058	37	1	42	1	DLGAP4	20	35060160	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	819419	35060160	27965360	1507	22101											
RPN2	6185	broad.mit.edu	37	chr20	35852284	35852284	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctattttcctctagctcAgagtcaagatctccactgaa	5	12	5	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:35852284A>G	uc002xgp.2	+	10	1400	c.1096A>G	c.(1096-1098)AGA>GGA	p.R366G	RPN2_uc002xgo.3_Missense_Mutation_p.R366G|RPN2_uc010gfw.2_Missense_Mutation_p.R209G|RPN2_uc002xgq.2_Missense_Mutation_p.R334G	NM_002951	NP_002942	P04844	RPN2_HUMAN	ribophorin II isoform 1 precursor	366	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				CCTCTAGCTCAGAGTCAAGAT	0.423													G	35852284	A	G	35852284	3	3	23	1	0	0	0	0	1	0	0	0	13608	180	7	3	1134	3	RPN2	20	35852284	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	792124	35852284	27173236	1508	22102											
KIAA0406	9675	broad.mit.edu	37	chr20	36640052	36640052	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttagcatctgagttccgcaGcatgacttccaggacctttg	10	11	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:36640052G>A	uc002xhl.2	-	3	2376	c.2167C>T	c.(2167-2169)CTG>TTG	p.L723L	KIAA0406_uc002xhm.2_Silent_p.L723L	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	723							binding				0		Myeloproliferative disorder(115;0.00874)				GAGTTCCGCAGCATGACTTCC	0.463													A	36640052	G	A	36640052	2	1	23	1	0	0	0	0	0	0	0	1	8173	962	34	2		2	KIAA0406	20	36640052	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	787768	36640052	26385468	1509	22103											
ZHX3	23051	broad.mit.edu	37	chr20	39831909	39831909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggagcccttcaagttccGgcagtggtatctacgatcac	10	12	4	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:39831909G>A	uc002xjs.1	-	3	2026	c.1648C>T	c.(1648-1650)CGG>TGG	p.R550W	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.R550W|ZHX3_uc002xjt.1_Missense_Mutation_p.R550W|ZHX3_uc002xju.1_Missense_Mutation_p.R550W|ZHX3_uc002xjv.1_Missense_Mutation_p.R550W|ZHX3_uc002xjw.1_Missense_Mutation_p.R550W|ZHX3_uc010ggg.1_Missense_Mutation_p.R550W	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	550	Required for nuclear localization.|Homeobox 2.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				TTCAAGTTCCGGCAGTGGTAT	0.537													A	39831909	G	A	39831909	3	1	23	1	0	0	0	0	1	0	0	0	17674	1115	39	1	1230	1	ZHX3	20	39831909	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3191857	39831909	23193611	1510	22104											
PTPRT	11122	broad.mit.edu	37	chr20	41101110	41101110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggttgtagctatggcagcGggtcaccgcgtagccgaagg	17	9	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:41101110G>A	uc002xkg.2	-	8	1430	c.1246C>T	c.(1246-1248)CGC>TGC	p.R416C	PTPRT_uc010ggj.2_Missense_Mutation_p.R416C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	416	Extracellular (Potential).|Fibronectin type-III 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)				CTATGGCAGCGGGTCACCGCG	0.587													A	41101110	G	A	41101110	3	1	23	1	0	0	0	0	1	0	0	0	12812	1116	39	1	3236	1	PTPRT	20	41101110	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1269201	41101110	21924410	1511	22105											
SNX21	90203	broad.mit.edu	37	chr20	44469908	44469909	+	Frame_Shift_Ins	INS	-	-	C													aggccttacccccacaccacINScccccagtctcaaagaattg					rs11477383		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:44469907_44469908A>AC	uc002xpv.1	+	3	1166_1167	c.1077_1078A>AC	c.(1075-1080)ccacccfs	p.P359fs	SNX21_uc002xpt.1_3'UTR|SNX21_uc002xps.1_Intron|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_Frame_Shift_Ins_p.P170fs|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_Frame_Shift_Ins_p.P170fs|SNX21_uc002xpz.1_Frame_Shift_Ins_p.P170fs	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	Homo sapiens sorting nexin family member 21 (SNX21), transcript variant 1, mRNA.	359					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	p.T358S(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CCCCCACACCACCCCCCAGTCT	0.614													C	44469909	-	C	44469908	7	5	23	1	0	1	1	0	0	0	0	0	14893	507	18	0	1107	0	SNX21	20	44469908	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	3368798	44469908	18555612	1512	22106											
MMP9	4318	broad.mit.edu	37	chr20	44639209	44639209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggagcgcggtgacgccGctcaccttcactcgcgtgta	13	14	2	1	rs149020208		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:44639209G>A	uc002xqz.2	+	3	478	c.459G>A	c.(457-459)CCG>CCA	p.P153P		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	153					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CGGTGACGCCGCTCACCTTCA	0.607													A	44639209	G	A	44639209	2	1	23	1	0	0	0	0	0	0	0	1	9669	1074	38	1		1	MMP9	20	44639209	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	169301	44639209	18386311	1513	22107											
CDH22	64405	broad.mit.edu	37	chr20	44869687	44869687	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgatgtcctgcaccttgatGatgaactccgactcgggctc	10	12	0	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:44869687G>A	uc002xrm.2	-	2	866	c.465C>T	c.(463-465)ATC>ATT	p.I155I	CDH22_uc010ghk.1_Silent_p.I155I	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	155	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				GCACCTTGATGATGAACTCCG	0.642													A	44869687	G	A	44869687	2	1	23	1	0	0	0	0	0	0	0	1	3107	1280	45	4		4	CDH22	20	44869687	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	230478	44869687	18155833	1514	22108											
ZNF334	55713	broad.mit.edu	37	chr20	45130930	45130930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttccacattccttgcattCgtaaggcttctcccctgtgt	6	13	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:45130930C>T	uc002xsc.2	-	5	1232	c.1048G>A	c.(1048-1050)GAA>AAA	p.E350K	ZNF334_uc002xsa.2_Missense_Mutation_p.E373K|ZNF334_uc002xsb.2_Missense_Mutation_p.E312K|ZNF334_uc002xsd.2_Missense_Mutation_p.E312K|ZNF334_uc010ghl.2_Missense_Mutation_p.E349K	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	350	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				TCCTTGCATTCGTAAGGCTTC	0.438													T	45130930	C	T	45130930	3	4	23	1	0	0	0	0	1	0	0	0	17848	893	31	1	998	1	ZNF334	20	45130930	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	261243	45130930	17894590	1515	22109											
SULF2	55959	broad.mit.edu	37	chr20	46290538	46290538	+	Frame_Shift_Del	DEL	G	G	-													caggtccatgtttcgagtccGggggttacactgcttgtaac							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:46290537_46290537CG>C	uc002xto.3	-	17	2804	c.2474_2474CG>G	c.(2473-2475)cggfs	p.R825fs	SULF2_uc002xtr.3_Frame_Shift_Del_p.R825fs|SULF2_uc002xtq.3_Frame_Shift_Del_p.R825fs|SULF2_uc010zyd.2_Frame_Shift_Del_p.R104fs	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	825					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	p.R825Q(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GTTTCGAGTCCGGGGGTTACA	0.562													-	46290538	G	-	46290538	7	5	23	1	0	1	0	1	0	0	0	0	15370	1115	39	0	155	0	SULF2	20	46290538	Frame_Shift_Del	DEL	G	TCGA-BR-4368-01A-01D-1158-08	1159608	46290538	16734982	1516	22110											
STAU1	6780	broad.mit.edu	37	chr20	47739699	47739699	+	Frame_Shift_Del	DEL	T	T	-													tgtactctggctccttctccTtttttgcctgctggatctgg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:47739698_47739698CT>C	uc002xud.3	-	7	1308	c.897_897AG>G	c.(895-897)aagfs	p.K299fs	STAU1_uc002xua.3_Frame_Shift_Del_p.K218fs|STAU1_uc002xub.3_Frame_Shift_Del_p.K224fs|STAU1_uc002xuc.3_Frame_Shift_Del_p.K218fs|STAU1_uc002xue.3_Frame_Shift_Del_p.K218fs|STAU1_uc002xuf.3_Frame_Shift_Del_p.K224fs|STAU1_uc002xug.3_Frame_Shift_Del_p.K299fs	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	299	DRBM 3.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GCTCCTTCTCCTTTTTTGCCT	0.587													-	47739699	T	-	47739699	7	5	23	1	0	1	0	1	0	0	0	0	15271	1609	56	0	865	0	STAU1	20	47739699	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	1449161	47739699	15285821	1517	22111											
SLC9A8	23315	broad.mit.edu	37	chr20	48503378	48503378	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggcaggaccttaagggcttCgtgtggctggacgccaagta	15	10	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:48503378C>T	uc002xuv.1	+	15	1791	c.1581C>T	c.(1579-1581)TTC>TTT	p.F527F	SLC9A8_uc010zym.1_Silent_p.F227F|SLC9A8_uc010gid.2_Silent_p.F151F	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	527						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTAAGGGCTTCGTGTGGCTGG	0.627													T	48503378	C	T	48503378	2	4	23	1	0	0	0	0	0	0	0	1	14720	883	31	1		1	SLC9A8	20	48503378	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	763679	48503378	14522142	1518	22112											
ADNP	23394	broad.mit.edu	37	chr20	49509400	49509401	+	Frame_Shift_Ins	INS	-	-	T													aaagggttttcccaacatctINStttttatagggcactgcagc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:49509399_49509400C>CT	uc002xvt.1	-	4	2196_2197	c.1851_1852G>AG	c.(1849-1854)aaagatfs	p.K617fs	ADNP_uc002xvu.1_Frame_Shift_Ins_p.K617fs	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	617						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TTCCCAACATCTTTTTTATAGG	0.426													T	49509401	-	T	49509400	7	5	23	1	0	1	1	0	0	0	0	0	323	1606	56	0	1461	0	ADNP	20	49509400	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	1006022	49509400	13516120	1519	22113											
KCNG1	3755	broad.mit.edu	37	chr20	49626608	49626608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcaggccttgagctggcCcaggcgcgtcagcgggaact	17	12	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:49626608C>T	uc002xwa.3	-	2	563	c.268G>A	c.(268-270)GGC>AGC	p.G90S	KCNG1_uc002xwb.2_Missense_Mutation_p.G90S	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	90	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						TTGAGCTGGCCCAGGCGCGTC	0.632													T	49626608	C	T	49626608	3	4	23	1	0	0	0	0	1	0	0	0	8027	623	22	4	1281	4	KCNG1	20	49626608	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	117208	49626608	13398912	1520	22114											
CASS4	57091	broad.mit.edu	37	chr20	55012423	55012423	+	Frame_Shift_Del	DEL	C	C	-													gtcgctgcagacaggccgtgCcccccattcctgagaggcct							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:55012422_55012422GC>G	uc002xxp.2	+	2	464	c.239_239GC>G	c.(238-240)tgcfs	p.C80fs	CASS4_uc002xxq.4_Frame_Shift_Del_p.C80fs|CASS4_uc010zze.1_Frame_Shift_Del_p.C80fs|CASS4_uc002xxr.2_Frame_Shift_Del_p.C80fs|CASS4_uc010gio.2_Frame_Shift_Del_p.C80fs	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	80					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GACAGGCCGTGCCCCCCATTC	0.632													-	55012423	C	-	55012423	7	5	23	1	0	1	0	1	0	0	0	0	2683	747	26	0	246	0	CASS4	20	55012423	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	5385815	55012423	8013097	1521	22115											
TFAP2C	7022	broad.mit.edu	37	chr20	55206380	55206380	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtcgccgaatatcagccGccaccctactttccccctcc	7	19	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:55206380G>A	uc002xya.2	+	2	411	c.168G>A	c.(166-168)CCG>CCA	p.P56P	TFAP2C_uc010zzi.1_5'UTR	NM_003222	NP_003213	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma	56	Gln/Pro-rich (transactivation domain).				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Colorectal(105;0.229)			AATATCAGCCGCCACCCTACT	0.687													A	55206380	G	A	55206380	2	1	23	1	0	0	0	0	0	0	0	1	15786	1074	38	1		1	TFAP2C	20	55206380	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	193957	55206380	7819140	1522	22116											
APCDD1L	164284	broad.mit.edu	37	chr20	57042206	57042206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagcccgtgggccggtagtGccgcctctccgccgggtcgg	17	15	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:57042206G>A	uc002xze.1	-	3	883	c.697C>T	c.(697-699)CAC>TAC	p.H233Y	APCDD1L_uc010zzp.1_Missense_Mutation_p.H244Y	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated	233						integral to membrane				ovary(1)	1	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GGCCGGTAGTGCCGCCTCTCC	0.741													A	57042206	G	A	57042206	3	1	23	1	0	0	0	0	1	0	0	0	766	1319	46	2	816	2	APCDD1L	20	57042206	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1835826	57042206	5983314	1523	22117											
TAF4	6874	broad.mit.edu	37	chr20	60585189	60585189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgccgtcccaagtgaagcCgtctgggcagcgccacccag	13	16	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:60585189C>T	uc002ybs.2	-	4	1674	c.1674G>A	c.(1672-1674)ACG>ACA	p.T558T		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	558					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CAAGTGAAGCCGTCTGGGCAG	0.622													T	60585189	C	T	60585189	2	4	23	1	0	0	0	0	0	0	0	1	15523	639	23	1		1	TAF4	20	60585189	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3542983	60585189	2440331	1524	22118											
SLCO4A1	28231	broad.mit.edu	37	chr20	61291766	61291766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactgcctcttccacaggaCggagctgaccaccgagagcc	10	17	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:61291766C>T	uc002ydb.1	+	4	1095	c.890C>T	c.(889-891)ACG>ATG	p.T297M	SLCO4A1_uc002ydc.1_RNA	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family	297	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(1)	1	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TTCCACAGGACGGAGCTGACC	0.687													T	61291766	C	T	61291766	3	4	23	1	0	0	0	0	1	0	0	0	14729	536	19	1	900	1	SLCO4A1	20	61291766	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	706577	61291766	1733754	1525	22119											
DIDO1	11083	broad.mit.edu	37	chr20	61528133	61528133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaccactcgatggggtagCggagagccatggcctcttgg	15	11	1	1	rs138811075		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:61528133C>T	uc002ydr.1	-	7	2068	c.1804G>A	c.(1804-1806)GCT>ACT	p.A602T	DIDO1_uc002yds.1_Missense_Mutation_p.A602T|DIDO1_uc002ydt.1_Missense_Mutation_p.A602T|DIDO1_uc002ydu.1_Missense_Mutation_p.A602T	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	602					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GATGGGGTAGCGGAGAGCCAT	0.592													T	61528133	C	T	61528133	3	4	23	1	0	0	0	0	1	0	0	0	4522	768	27	1	4987	1	DIDO1	20	61528133	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	236367	61528133	1497387	1526	22120											
COL20A1	57642	broad.mit.edu	37	chr20	61944531	61944531	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagggaggcacacagagtaCgacgtcaccatcttggccta	11	12	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:61944531C>T	uc011aau.1	+	17	2239	c.2139C>T	c.(2137-2139)TAC>TAT	p.Y713Y	COL20A1_uc011aav.1_Silent_p.Y534Y	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	713	Fibronectin type-III 5.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					ACACAGAGTACGACGTCACCA	0.657													T	61944531	C	T	61944531	2	4	23	1	0	0	0	0	0	0	0	1	3679	547	19	1		1	COL20A1	20	61944531	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	416398	61944531	1080989	1527	22121											
ARFRP1	10139	broad.mit.edu	37	chr20	62331956	62331957	+	Splice_Site	DEL	TG	TG	-													ggtgcagcccccactcacccTgtgagggccgagcaggcctg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:62331955_62331956CTG>C	uc002ygf.3	-	7	661	c.518_splice	c.e7+1	p.G173_splice	ARFRP1_uc002yga.3_Splice_Site_p.G173_splice|ARFRP1_uc011abf.2_3'UTR|ARFRP1_uc002ygh.4_Frame_Shift_Del_p.T172fs|ARFRP1_uc002ygc.3_Splice_Site_p.G173_splice|ARFRP1_uc011abg.2_Frame_Shift_Del_p.T172fs|ARFRP1_uc011abh.2_Splice_Site	NM_003224	NP_003215	Q13795	ARFRP_HUMAN	Homo sapiens ADP-ribosylation factor related protein 1 (ARFRP1), transcript variant 1, mRNA.	173					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			CCCACTCACCCTGTGAGGGCCG	0.658													-	62331957	TG	-	62331956	8	5	23	1	0	1	0	1	0	0	1	0	856	1567	55	0	101	0	ARFRP1	20	62331956	Splice_Site	DEL	TG	TCGA-BR-4368-01A-01D-1158-08	387425	62331956	693564	1528	22122											
ZGPAT	84619	broad.mit.edu	37	chr20	62365068	62365068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgactcagacagcgacggtaCgggtgactccagctatgcca	12	13	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:62365068C>T	uc002ygk.2	+	4	1026	c.848C>T	c.(847-849)ACG>ATG	p.T283M	ZGPAT_uc002ygi.2_Missense_Mutation_p.T283M|ZGPAT_uc002ygj.2_Missense_Mutation_p.T283M|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Missense_Mutation_p.T283M|ZGPAT_uc002ygm.2_Intron|ZGPAT_uc002ygn.3_RNA|LIME1_uc011abi.1_5'Flank|LIME1_uc002ygp.3_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	283					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					AGCGACGGTACGGGTGACTCC	0.667													T	62365068	C	T	62365068	3	4	23	1	0	0	0	0	1	0	0	0	17671	536	19	1	858	1	ZGPAT	20	62365068	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	33112	62365068	660452	1529	22123											
ZBTB46	140685	broad.mit.edu	37	chr20	62421359	62421359	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctgagaaagagttctgtActgcaccgtccttggcagaa	11	10	2	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:62421359A>G	uc002ygv.1	-	2	953	c.752T>C	c.(751-753)GTA>GCA	p.V251A	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					AGAGTTCTGTACTGCACCGTC	0.587													G	62421359	A	G	62421359	3	3	23	1	0	0	0	0	1	0	0	0	17544	391	14	3	1033	3	ZBTB46	20	62421359	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	56291	62421359	604161	1530	22124											
PCMTD2	55251	broad.mit.edu	37	chr20	62891516	62891516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacattcacctctcagccccGtgcatctactcggaggtgat	8	14	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:62891516G>A	uc002yil.3	+	2	398	c.198G>A	c.(196-198)CCG>CCA	p.P66P	PCMTD2_uc002yim.3_Silent_p.P66P	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	66						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TCTCAGCCCCGTGCATCTACT	0.493													A	62891516	G	A	62891516	2	1	23	1	0	0	0	0	0	0	0	1	11587	1132	40	1		1	PCMTD2	20	62891516	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	470157	62891516	134004	1531	22125											
BTG3	10950	broad.mit.edu	37	chr21	18966420	18966420	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaaacgaagttagtgaggTgctaacatgtgaggattaat	11	4	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:18966420T>C	uc002ykk.2	-	5	1010	c.750A>G	c.(748-750)GCA>GCG	p.A250A	BTG3_uc002ykl.2_Silent_p.A294A	NM_006806	NP_006797	Q14201	BTG3_HUMAN	B-cell translocation gene 3 isoform b	250					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm					0				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		GTTAGTGAGGTGCTAACATGT	0.373													C	18966420	T	C	18966420	2	2	23	1	0	0	0	0	0	0	0	1	1555	1683	59	3		3	BTG3	21	18966420	Silent	SNP	T	TCGA-BR-4368-01A-01D-1158-08		18966420	29163475	1532	22126											
NCAM2	4685	broad.mit.edu	37	chr21	22906922	22906922	+	Nonsense_Mutation	SNP	G	G	T													atgaaagagttactaatcacGaagatgggagcccagtaaat							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:22906922G>T	uc002yld.1	+	17	2596	c.2347G>T	c.(2347-2349)GAA>TAA	p.E783*	NCAM2_uc011acb.1_Nonsense_Mutation_p.E641*	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	783	Cytoplasmic (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TACTAATCACGAAGATGGGAG	0.413													T	22906922	G	T	22906922	4	4	23	1	0	0	0	0	0	1	0	0	10203	1059	37	5	2413	5	NCAM2	21	22906922	Nonsense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3940502	22906922	25222973	1533	22127	76	2									
NCAM2	4685	broad.mit.edu	37	chr21	22906925	22906925	+	Missense_Mutation	SNP	G	G	A													aaagagttactaatcacgaaGatgggagcccagtaaatgag							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:22906925G>A	uc002yld.1	+	17	2599	c.2350G>A	c.(2350-2352)GAT>AAT	p.D784N	NCAM2_uc011acb.1_Missense_Mutation_p.D642N	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	784	Cytoplasmic (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TAATCACGAAGATGGGAGCCC	0.413													A	22906925	G	A	22906925	3	1	23	1	0	0	0	0	1	0	0	0	10203	942	33	4	2416	4	NCAM2	21	22906925	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3	22906925	25222970	1534	22128	76	2									
RWDD2B	10069	broad.mit.edu	37	chr21	30380587	30380587	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaatttcaggcagaactgcCgggtatttaaagggaagaat	12	5	1	2	rs145317909	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:30380587C>T	uc002yms.2	-	3	423	c.336G>A	c.(334-336)CCG>CCA	p.P112P	RWDD2B_uc002ymt.2_Silent_p.P83P|RWDD2B_uc002ymu.2_Intron|RWDD2B_uc002ymv.2_Silent_p.P32P	NM_016940	NP_058636	P57060	RWD2B_HUMAN	RWD domain containing 2B	112	RWD.										0						GCAGAACTGCCGGGTATTTAA	0.383													T	30380587	C	T	30380587	2	4	23	1	0	0	0	0	0	0	0	1	13756	639	23	1		1	RWDD2B	21	30380587	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	7473662	30380587	17749308	1535	22129											
BACH1	571	broad.mit.edu	37	chr21	30701983	30701983	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagagaaaacttgactgtaTacagaatcttgaatcagaaa	7	6	2	5			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:30701983T>C	uc002ynj.2	+	4	1860	c.1745T>C	c.(1744-1746)ATA>ACA	p.I582T	BACH1_uc002ynk.2_Missense_Mutation_p.I582T|BACH1_uc002ynl.2_RNA	NM_001186	NP_001177	O14867	BACH1_HUMAN	BTB and CNC homology 1 transcription factor	582						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|liver(1)	2						CTTGACTGTATACAGAATCTT	0.348													C	30701983	T	C	30701983	3	2	23	1	0	0	0	0	1	0	0	0	1283	1406	49	3	1755	3	BACH1	21	30701983	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	321396	30701983	17427912	1536	22130											
TIAM1	7074	broad.mit.edu	37	chr21	32638992	32638992	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtcagtgtaagacacaggTctcaagcccatgtccactcg	10	12	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:32638992T>G	uc002yow.1	-	5	769	c.297A>C	c.(295-297)AGA>AGC	p.R99S	TIAM1_uc011adk.1_Missense_Mutation_p.R99S|TIAM1_uc011adl.1_Missense_Mutation_p.R99S|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	99					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						AAGACACAGGTCTCAAGCCCA	0.572													G	32638992	T	G	32638992	3	3	23	1	0	0	0	0	1	0	0	0	15887	1664	58	5	4578	5	TIAM1	21	32638992	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	1937009	32638992	15490903	1537	22131											
SFRS15	57466	broad.mit.edu	37	chr21	33063217	33063217	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taacaccaagttctacatccCaatactgcttataatctgcc	3	13	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:33063217C>A	uc002ypd.2	-	15	2204	c.1778G>T	c.(1777-1779)TGG>TTG	p.W593L	SFRS15_uc002ype.2_Missense_Mutation_p.W593L|SFRS15_uc010glu.2_Missense_Mutation_p.W578L|SFRS15_uc002ypf.1_Missense_Mutation_p.W267L	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	593						nucleus	nucleotide binding|RNA binding				0						TTCTACATCCCAATACTGCTT	0.383													A	33063217	C	A	33063217	3	1	23	1	0	0	0	0	1	0	0	0	14171	595	21	5	1689	5	SFRS15	21	33063217	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	424225	33063217	15066678	1538	22132											
GCFC1	94104	broad.mit.edu	37	chr21	34131467	34131467	+	Frame_Shift_Del	DEL	C	C	-													atttataccgttcaccaataCccccagaagacccttctaat							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:34131466_34131466AC>A	uc002yqn.3	-	6	1498	c.1308_1308GT>T	c.(1306-1308)ggtfs	p.G436fs	GCFC1_uc002yqm.3_5'Flank|GCFC1_uc002yqo.3_Non-coding_Transcript|GCFC1_uc002yqp.3_Frame_Shift_Del_p.G436fs	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	Homo sapiens GC-rich sequence DNA-binding factor 1 (GCFC1), transcript variant 1, mRNA.	436						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(11)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	39						GTTCACCAATACCCCCAGAAG	0.408													-	34131467	C	-	34131467	7	5	23	1	0	1	0	1	0	0	0	0	6289	507	18	0	1612	0	GCFC1	21	34131467	Frame_Shift_Del	DEL	C	TCGA-BR-4368-01A-01D-1158-08	1068250	34131467	13998428	1539	22133											
IFNAR1	3454	broad.mit.edu	37	chr21	34697419	34697419	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgccgtggcgccatgggTgttgtccgcagccgcaggtg	17	13	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:34697419T>C	uc002yrn.2	+	1	206	c.59T>C	c.(58-60)GTG>GCG	p.V20A	IFNAR1_uc011adv.1_Intron	NM_000629	NP_000620	P17181	INAR1_HUMAN	interferon-alpha receptor 1 precursor	20					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			central_nervous_system(1)|skin(1)	2					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GCGCCATGGGTGTTGTCCGCA	0.692													C	34697419	T	C	34697419	3	2	23	1	0	0	0	0	1	0	0	0	7544	1696	59	3	61	3	IFNAR1	21	34697419	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	565952	34697419	13432476	1540	22134											
IFNAR1	3454	broad.mit.edu	37	chr21	34713411	34713411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatgaagaaattaaattgCgtataagagcagaaaaagaa	8	2	0	5			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:34713411C>T	uc002yrn.2	+	3	454	c.307C>T	c.(307-309)CGT>TGT	p.R103C	IFNAR1_uc011adv.1_Missense_Mutation_p.R34C	NM_000629	NP_000620	P17181	INAR1_HUMAN	interferon-alpha receptor 1 precursor	103	Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			central_nervous_system(1)|skin(1)	2					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AATTAAATTGCGTATAAGAGC	0.328													T	34713411	C	T	34713411	3	4	23	1	0	0	0	0	1	0	0	0	7544	768	27	1	317	1	IFNAR1	21	34713411	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	15992	34713411	13416484	1541	22135											
DONSON	29980	broad.mit.edu	37	chr21	34951696	34951696	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaggcagatgttaaatAcagcagttggctcgtgtgga	13	6	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:34951696A>G	uc002ysk.2	-	9	1590	c.1523T>C	c.(1522-1524)GTA>GCA	p.V508A	DONSON_uc002ysi.1_Missense_Mutation_p.V268A|DONSON_uc002ysj.2_Missense_Mutation_p.V141A|DONSON_uc002ysl.2_Missense_Mutation_p.V141A|DONSON_uc010gme.2_Missense_Mutation_p.V481A|DONSON_uc002ysm.2_Missense_Mutation_p.V508A	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	508					multicellular organismal development	nucleus				ovary(1)|central_nervous_system(1)	2						GATGTTAAATACAGCAGTTGG	0.438													G	34951696	A	G	34951696	3	3	23	1	0	0	0	0	1	0	0	0	4706	391	14	3	185	3	DONSON	21	34951696	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	238285	34951696	13178199	1542	22136											
DOPEY2	9980	broad.mit.edu	37	chr21	37571453	37571453	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgtttgcaccctgcccTgcccagtggtgtccacttaa	9	14	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:37571453T>A	uc002yvg.2	+	3	303	c.224T>A	c.(223-225)CTG>CAG	p.L75Q	DOPEY2_uc011aeb.1_Missense_Mutation_p.L75Q	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	75					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						CACCCTGCCCTGCCCAGTGGT	0.488													A	37571453	T	A	37571453	3	1	23	1	0	0	0	0	1	0	0	0	4708	1580	55	5	230	5	DOPEY2	21	37571453	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	2619757	37571453	10558442	1543	22137											
DOPEY2	9980	broad.mit.edu	37	chr21	37664445	37664445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtggacacagagggccctGccttcctgtcggatgtagag	14	10	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:37664445G>A	uc002yvg.2	+	36	6638	c.6559G>A	c.(6559-6561)GCC>ACC	p.A2187T	DOPEY2_uc011aeb.1_Missense_Mutation_p.A2136T	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	2187					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						AGAGGGCCCTGCCTTCCTGTC	0.458													A	37664445	G	A	37664445	3	1	23	1	0	0	0	0	1	0	0	0	4708	1319	46	2	6697	2	DOPEY2	21	37664445	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	92992	37664445	10465450	1544	22138											
DSCAM	1826	broad.mit.edu	37	chr21	41719642	41719642	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagcggacagcttgtcctTgcgcacaaagcactggtatg	12	10	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:41719642T>C	uc002yyq.1	-	6	1617	c.1165A>G	c.(1165-1167)AAG>GAG	p.K389E	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	389	Extracellular (Potential).|Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGCTTGTCCTTGCGCACAAAG	0.507													C	41719642	T	C	41719642	3	2	23	1	0	0	0	0	1	0	0	0	4768	1821	63	3	4985	3	DSCAM	21	41719642	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	4055197	41719642	6410253	1545	22139											
DSCAM	1826	broad.mit.edu	37	chr21	41725614	41725614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctccacacgctgcccagCcatggctttgcgatggtcaa	10	15	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:41725614C>T	uc002yyq.1	-	5	1164	c.712G>A	c.(712-714)GCT>ACT	p.A238T	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	238	Extracellular (Potential).|Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGCTGCCCAGCCATGGCTTTG	0.547													T	41725614	C	T	41725614	3	4	23	1	0	0	0	0	1	0	0	0	4768	739	26	2	5442	2	DSCAM	21	41725614	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	5972	41725614	6404281	1546	22140											
POFUT2	23275	broad.mit.edu	37	chr21	46703350	46703350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgatcaatacacggccGctcgtccaccttctcttccc	7	17	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:46703350G>A	uc002zhc.2	-	3	500	c.475C>T	c.(475-477)CGG>TGG	p.R159W	POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Missense_Mutation_p.R159W|POFUT2_uc011afp.1_Missense_Mutation_p.R159W	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2 isoform C	159					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity				0				Colorectal(79;0.243)		ATACACGGCCGCTCGTCCACC	0.527													A	46703350	G	A	46703350	3	1	23	1	0	0	0	0	1	0	0	0	12184	1086	38	1	981	1	POFUT2	21	46703350	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	4977736	46703350	1426545	1547	22141											
COL18A1	80781	broad.mit.edu	37	chr21	46896330	46896330	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgccacccttggctggaggCagcagcacggaagattccag	13	13	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:46896330C>T	uc011afs.1	+	5	2130	c.2109C>T	c.(2107-2109)GGC>GGT	p.G703G	COL18A1_uc002zhg.2_Silent_p.G288G|COL18A1_uc002zhi.2_Silent_p.G468G	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	703	Nonhelical region 1 (NC1).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGGCTGGAGGCAGCAGCACGG	0.567													T	46896330	C	T	46896330	2	4	23	1	0	0	0	0	0	0	0	1	3675	697	25	2		2	COL18A1	21	46896330	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	192980	46896330	1233565	1548	22142											
PCNT	5116	broad.mit.edu	37	chr21	47746486	47746486	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacccctgatggggcaggaGgggcctttgcagctcaggta	15	11	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:47746486G>T	uc002zji.3	+	2	357	c.250G>T	c.(250-252)GGG>TGG	p.G84W	PCNT_uc002zjj.2_Translation_Start_Site|C21orf58_uc011afx.1_5'Flank|C21orf58_uc002zjf.2_5'Flank|C21orf58_uc010gqj.1_5'Flank|C21orf58_uc002zjg.1_5'Flank	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	84					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					TGGGGCAGGAGGGGCCTTTGC	0.483													T	47746486	G	T	47746486	3	4	23	1	0	0	0	0	1	0	0	0	11590	1000	35	5	256	5	PCNT	21	47746486	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	850156	47746486	383409	1549	22143											
CCT8L2	150160	broad.mit.edu	37	chr22	17073165	17073166	+	Frame_Shift_Ins	INS	-	-	T													ctgcctgggtttgtcctgctINStcccggaggagccatgctgc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:17073164_17073165C>CT	uc002zlp.1	-	0	536_537	c.276_277G>AG	c.(274-279)gaagcafs	p.E92fs		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	92					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity	p.R91L(1)|p.R91W(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTTTGTCCTGCTTCCCGGAGGA	0.614													T	17073166	-	T	17073165	7	5	23	1	0	1	1	0	0	0	0	0	2961	1606	56	0	1401	0	CCT8L2	22	17073165	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08		17073165	34231401	1550	22144											
MICAL3	57553	broad.mit.edu	37	chr22	18305761	18305761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtccccatcctctgctgCctccccttctatctcggctg	8	18	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:18305761C>T	uc002zng.3	-	23	3612	c.3259G>A	c.(3259-3261)GCA>ACA	p.A1087T	MICAL3_uc011agl.1_Intron	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1087	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		TCCTCTGCTGCCTCCCCTTCT	0.572													T	18305761	C	T	18305761	3	4	23	1	0	0	0	0	1	0	0	0	9571	739	26	2	2789	2	MICAL3	22	18305761	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1232596	18305761	32998805	1551	22145											
HIRA	7290	broad.mit.edu	37	chr22	19319037	19319037	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatcggaggttctgcccgaTgactggtagcagctccttca	12	11	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:19319037T>C	uc002zpf.1	-	25	3200	c.2980A>G	c.(2980-2982)ATC>GTC	p.I994V	HIRA_uc011agx.1_Missense_Mutation_p.H830R|HIRA_uc010grn.1_Missense_Mutation_p.I787V|HIRA_uc010gro.1_Missense_Mutation_p.I950V	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	994	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					TTCTGCCCGATGACTGGTAGC	0.592													C	19319037	T	C	19319037	3	2	23	1	0	0	0	0	1	0	0	0	7120	1464	51	3	77	3	HIRA	22	19319037	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	1013276	19319037	31985529	1552	22146											
HIRA	7290	broad.mit.edu	37	chr22	19371200	19371200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccggccatctgctgtcCgagtctcaacttgtttcttc	7	14	4	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:19371200C>T	uc002zpf.1	-	13	1578	c.1358G>A	c.(1357-1359)CGG>CAG	p.R453Q	HIRA_uc011agx.1_Missense_Mutation_p.R319Q|HIRA_uc010grn.1_Missense_Mutation_p.R453Q|HIRA_uc010gro.1_Missense_Mutation_p.R409Q|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	453	Interaction with CCNA1.|Interaction with ASF1A.|Required for repression of histone gene transcription.			Missing: Impairs binding to ASF1A.	chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					ATCTGCTGTCCGAGTCTCAAC	0.418													T	19371200	C	T	19371200	3	4	23	1	0	0	0	0	1	0	0	0	7120	652	23	1	1747	1	HIRA	22	19371200	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	52163	19371200	31933366	1553	22147											
TXNRD2	10587	broad.mit.edu	37	chr22	19868175	19868175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatcagatctgaggacccGccgaagagccgctgcaccag	11	15	2	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:19868175G>A	uc011ahc.1	-	13	1185	c.1152C>T	c.(1150-1152)GGC>GGT	p.G384G	TXNRD2_uc002zql.1_Silent_p.G138G|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Silent_p.G383G|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_Silent_p.G34G	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2 precursor	384					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			ovary(2)	2	Colorectal(54;0.0993)					CTGAGGACCCGCCGAAGAGCC	0.632													A	19868175	G	A	19868175	2	1	23	1	0	0	0	0	0	0	0	1	16805	1074	38	1		1	TXNRD2	22	19868175	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	496975	19868175	31436391	1554	22148											
HIC2	23119	broad.mit.edu	37	chr22	21799992	21799992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacctcactcccgatgacGcagcccagctgagcgacagc	9	19	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:21799992G>A	uc002zur.3	+	3	1038	c.808G>A	c.(808-810)GCA>ACA	p.A270T	HIC2_uc002zus.3_Missense_Mutation_p.A270T	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	270					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				TCCCGATGACGCAGCCCAGCT	0.672													A	21799992	G	A	21799992	3	1	23	1	0	0	0	0	1	0	0	0	7102	1087	38	1	814	1	HIC2	22	21799992	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1931817	21799992	29504574	1555	22149											
ZNF70	7621	broad.mit.edu	37	chr22	24086656	24086656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccgcattccctgcactcGtagggcctctttccggtgtg	10	15	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:24086656G>A	uc002zxs.2	-	2	1133	c.672C>T	c.(670-672)TAC>TAT	p.Y224Y	ZNF70_uc002zxr.1_5'Flank	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	224	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						CCCTGCACTCGTAGGGCCTCT	0.562													A	24086656	G	A	24086656	2	1	23	1	0	0	0	0	0	0	0	1	18100	1140	40	1		1	ZNF70	22	24086656	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2286664	24086656	27217910	1556	22150											
ADRBK2	157	broad.mit.edu	37	chr22	26114215	26114215	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattttgtattcctcagattAcgctctggggaaggactgta	11	7	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:26114215A>G	uc003abx.3	+	19	1805	c.1658A>G	c.(1657-1659)TAC>TGC	p.Y553C	ADRBK2_uc003aby.3_RNA	NM_005160	NP_005151	P35626	ARBK2_HUMAN	beta-adrenergic receptor kinase 2	553							ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7					Adenosine triphosphate(DB00171)	TCCTCAGATTACGCTCTGGGG	0.403													G	26114215	A	G	26114215	3	3	23	1	0	0	0	0	1	0	0	0	344	391	14	3	1732	3	ADRBK2	22	26114215	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	2027559	26114215	25190351	1557	22151											
ADRBK2	157	broad.mit.edu	37	chr22	26117303	26117303	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaagaaactcaaattaAagacaaaaaatgcattttgt	7	4	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:26117303A>T	uc003abx.3	+	20	1991	c.1844A>T	c.(1843-1845)AAA>ATA	p.K615I	ADRBK2_uc003aby.3_RNA	NM_005160	NP_005151	P35626	ARBK2_HUMAN	beta-adrenergic receptor kinase 2	615	PH.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7					Adenosine triphosphate(DB00171)	ACTCAAATTAAAGACAAAAAA	0.274													T	26117303	A	T	26117303	3	4	23	1	0	0	0	0	1	0	0	0	344	14	1	5	1922	5	ADRBK2	22	26117303	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	3088	26117303	25187263	1558	22152											
TFIP11	24144	broad.mit.edu	37	chr22	26888055	26888055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggacaaagaccactcccCggtcgatgtagatcacaatg	9	13	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:26888055C>T	uc003acr.2	-	14	2812	c.2438G>A	c.(2437-2439)CGG>CAG	p.R813Q	TFIP11_uc003acq.2_Missense_Mutation_p.R172Q|TFIP11_uc003acs.2_Missense_Mutation_p.R813Q|TFIP11_uc003act.2_Missense_Mutation_p.R813Q|uc003acu.1_RNA	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	813					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						GACCACTCCCCGGTCGATGTA	0.567													T	26888055	C	T	26888055	3	4	23	1	0	0	0	0	1	0	0	0	15804	652	23	1	79	1	TFIP11	22	26888055	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	770752	26888055	24416511	1559	22153											
CRYBB1	1414	broad.mit.edu	37	chr22	26997907	26997907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagacccagagactgggtgCgtcgtccccctggatctcta	12	13	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:26997907C>T	uc003acy.1	-	5	581	c.511G>A	c.(511-513)GCA>ACA	p.A171T		NM_001887	NP_001878	P53674	CRBB1_HUMAN	crystallin, beta B1	171	Beta/gamma crystallin 'Greek key' 3.				visual perception		structural constituent of eye lens			ovary(1)	1						AGACTGGGTGCGTCGTCCCCC	0.612													T	26997907	C	T	26997907	3	4	23	1	0	0	0	0	1	0	0	0	3910	768	27	1	255	1	CRYBB1	22	26997907	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	109852	26997907	24306659	1560	22154											
EMID1	129080	broad.mit.edu	37	chr22	29654828	29654828	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagctggggtctggggcGggccctgccggcacaggcac	18	14	1	1	rs138894145		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:29654828G>A	uc003aen.2	+	15	1296	c.1221G>A	c.(1219-1221)GCG>GCA	p.A407A	EMID1_uc003aem.2_Silent_p.A409A|EMID1_uc003aeo.2_Silent_p.A411A|EMID1_uc003aep.2_Silent_p.A388A	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	EMI domain containing 1	407						collagen					0						GGTCTGGGGCGGGCCCTGCCG	0.677													A	29654828	G	A	29654828	2	1	23	1	0	0	0	0	0	0	0	1	5091	1103	39	1		1	EMID1	22	29654828	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	2656921	29654828	21649738	1561	22155											
OSBP2	23762	broad.mit.edu	37	chr22	31289120	31289121	+	Frame_Shift_Ins	INS	-	-	C													ggtctcaggtgagccaccacINScccccctcagctgcgcacta							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:31289119_31289120A>AC	uc003aiy.1	+	8	1984_1985	c.1880_1881A>AC	c.(1879-1881)cacfs	p.H627fs	OSBP2_uc011ala.1_Frame_Shift_Ins_p.H461fs|OSBP2_uc010gwc.1_Frame_Shift_Ins_p.H454fs|OSBP2_uc011alb.1_Frame_Shift_Ins_p.H578fs|OSBP2_uc003aiz.1_Frame_Shift_Ins_p.H626fs|OSBP2_uc003aja.1_Frame_Shift_Ins_p.H260fs|OSBP2_uc011alc.2_Frame_Shift_Ins_p.H369fs|OSBP2_uc011ald.1_Frame_Shift_Ins_p.H171fs|OSBP2_uc010gwd.1_Frame_Shift_Ins_p.H172fs	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	627					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTGAGCCACCACCCCCCCTCAG	0.594													C	31289121	-	C	31289120	7	5	23	1	0	1	1	0	0	0	0	0	11274	506	18	0	1915	0	OSBP2	22	31289120	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	1634292	31289120	20015446	1562	22156											
OSBP2	23762	broad.mit.edu	37	chr22	31289636	31289636	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcgccagtcaggggacatCgagattgtgaaccataagac	11	10	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:31289636C>T	uc003aiy.1	+	11	2210	c.2106C>T	c.(2104-2106)ATC>ATT	p.I702I	OSBP2_uc011ala.1_Silent_p.I536I|OSBP2_uc010gwc.1_Silent_p.I529I|OSBP2_uc011alb.1_Silent_p.I653I|OSBP2_uc003aiz.1_Silent_p.I701I|OSBP2_uc003aja.1_Silent_p.I335I|OSBP2_uc011alc.1_Silent_p.I444I|OSBP2_uc003ajb.2_Silent_p.I247I|OSBP2_uc011ald.1_Silent_p.I246I|OSBP2_uc010gwd.1_Silent_p.I247I	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	702					lipid transport	membrane	lipid binding			breast(1)|skin(1)	2						CAGGGGACATCGAGATTGTGA	0.627													T	31289636	C	T	31289636	2	4	23	1	0	0	0	0	0	0	0	1	11274	874	31	1		1	OSBP2	22	31289636	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	516	31289636	20014930	1563	22157											
SFI1	9814	broad.mit.edu	37	chr22	31971347	31971347	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaactggccaggaagatggcCctgcggcgcgcctttactca	12	13	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:31971347C>A	uc003ale.2	+	10	1446	c.1053C>A	c.(1051-1053)GCC>GCA	p.A351A	SFI1_uc003ald.1_Silent_p.A327A|SFI1_uc003alf.2_Silent_p.A351A|SFI1_uc003alg.2_Silent_p.A269A|SFI1_uc011alp.1_Silent_p.A269A|SFI1_uc011alq.1_Silent_p.A327A|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	351	HAT 4.				G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						GGAAGATGGCCCTGCGGCGCG	0.562													A	31971347	C	A	31971347	2	1	23	1	0	0	0	0	0	0	0	1	14156	610	22	5		5	SFI1	22	31971347	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	681711	31971347	19333219	1564	22158											
SYN3	8224	broad.mit.edu	37	chr22	32924872	32924873	+	Frame_Shift_Ins	INS	-	-	G													ggtcttacccaaggtctgagINSgggggagggcgctgtgcctc							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:32924871_32924872A>AG	uc003amx.3	-	9	1381_1382	c.1219_1220T>CT	c.(1219-1221)ctcfs	p.L407fs	SYN3_uc003amy.3_Frame_Shift_Ins_p.L407fs|SYN3_uc003amz.3_Frame_Shift_Ins_p.L406fs|SYN3_uc011amc.1_Frame_Shift_Ins_p.L41fs	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	407	J; Pro-rich linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCAAGGTCTGAGGGGGGAGGGC	0.559											OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	32924873	-	G	32924872	7	5	23	1	0	1	1	0	0	0	0	0	15439	1000	35	0	539	0	SYN3	22	32924872	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	953525	32924872	18379694	1565	22159											
APOL3	80833	broad.mit.edu	37	chr22	36537739	36537739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgtgtatgagtgctccaCgatgctggtggtgatcccag	14	8	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:36537739C>T	uc003aot.2	-	3	756	c.718G>A	c.(718-720)GTG>ATG	p.V240M	APOL3_uc003aoq.2_Missense_Mutation_p.V169M|APOL3_uc003aor.2_Missense_Mutation_p.V169M|APOL3_uc003aos.2_Missense_Mutation_p.V169M|APOL3_uc003aou.2_Missense_Mutation_p.V40M|APOL3_uc003aov.2_Missense_Mutation_p.V40M	NM_145640	NP_663615	O95236	APOL3_HUMAN	apolipoprotein L3 isoform 1	240					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity				0						GAGTGCTCCACGATGCTGGTG	0.532													T	36537739	C	T	36537739	3	4	23	1	0	0	0	0	1	0	0	0	807	536	19	1	494	1	APOL3	22	36537739	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3612867	36537739	14766827	1566	22160											
C22orf33	339669	broad.mit.edu	37	chr22	37387547	37387547	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatccgtcttcctgccatgCcagtgttctaagtccctcac	6	16	4	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:37387547C>T	uc003aqf.2	-	5	866	c.720G>A	c.(718-720)TGG>TGA	p.W240*	C22orf33_uc003aqe.2_Nonsense_Mutation_p.W155*	NM_001163857	NP_001157329	O43247	EAN57_HUMAN	hypothetical protein LOC339669 isoform 1	240											0						TCCTGCCATGCCAGTGTTCTA	0.542													T	37387547	C	T	37387547	4	4	23	1	0	0	0	0	0	1	0	0	2145	740	26	2	130	2	C22orf33	22	37387547	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	849808	37387547	13917019	1567	22161											
POLR2F	5435	broad.mit.edu	37	chr22	38363644	38363644	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccacagggcccgaaagatCcccatcatcattcgccgtta	8	15	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:38363644C>T	uc003aul.2	+	5	427	c.306C>T	c.(304-306)ATC>ATT	p.I102I	POLR2F_uc010gxi.2_3'UTR|POLR2F_uc003aum.2_Intron	NM_021974	NP_068809	P61218	RPAB2_HUMAN	DNA directed RNA polymerase II polypeptide F	102					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)	1	Melanoma(58;0.045)					CCCGAAAGATCCCCATCATCA	0.562													T	38363644	C	T	38363644	2	4	23	1	0	0	0	0	0	0	0	1	12219	845	30	4		4	POLR2F	22	38363644	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	976097	38363644	12940922	1568	22162											
TSPO	706	broad.mit.edu	37	chr22	43557100	43557101	+	Frame_Shift_Del	DEL	AG	AG	-													aaagagctgggaggcttcacAgagaaggctgtggttcccct							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:43557099_43557100CAG>C	uc003bdn.3	+	2	329_330	c.224_225CAG>C	c.(223-225)acafs	p.T75fs	TSPO_uc003bdo.3_5'UTR	NM_000714	NP_000705	B1AH88	TSPOB_HUMAN	Homo sapiens translocator protein (18kDa) (TSPO), transcript variant PBR, mRNA.	28										endometrium(1)|prostate(1)	2		Ovarian(80;0.0694)				GGAGGCTTCACAGAGAAGGCTG	0.599													-	43557101	AG	-	43557100	7	5	23	1	0	1	0	1	0	0	0	0	16652	175	7	0	231	0	TSPO	22	43557100	Frame_Shift_Del	DEL	AG	TCGA-BR-4368-01A-01D-1158-08	5193456	43557100	7747466	1569	22163											
MPPED1	758	broad.mit.edu	37	chr22	43870822	43870822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcaccgtgcggggcttcCggatctatggctccccatgg	14	13	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:43870822C>T	uc011apv.1	+	4	836	c.613C>T	c.(613-615)CGG>TGG	p.R205W	MPPED1_uc011apw.1_Missense_Mutation_p.R99W|MPPED1_uc011apx.1_Missense_Mutation_p.R47W|MPPED1_uc011apy.1_Missense_Mutation_p.R205W|MPPED1_uc011apz.1_Missense_Mutation_p.R238W	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	205							hydrolase activity				0		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCGGGGCTTCCGGATCTATGG	0.498													T	43870822	C	T	43870822	3	4	23	1	0	0	0	0	1	0	0	0	9741	643	23	1	623	1	MPPED1	22	43870822	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	313722	43870822	7433744	1570	22164											
SMC1B	27127	broad.mit.edu	37	chr22	45755790	45755790	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctaatcgtttctgttcCagagaagtttgaatacttac	6	8	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:45755790C>T	uc003bgc.2	-	18	2809	c.2757G>A	c.(2755-2757)CTG>CTA	p.L919L	SMC1B_uc003bgd.2_Silent_p.L919L	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	919	Potential.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GTTTCTGTTCCAGAGAAGTTT	0.363													T	45755790	C	T	45755790	2	4	23	1	0	0	0	0	0	0	0	1	14782	581	21	4		4	SMC1B	22	45755790	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1884968	45755790	5548776	1571	22165											
SMC1B	27127	broad.mit.edu	37	chr22	45809346	45809346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgctcagttaccagagcCgttggggccgatgatgcagg	15	10	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:45809346C>T	uc003bgc.2	-	1	155	c.103G>A	c.(103-105)GGC>AGC	p.G35S	SMC1B_uc003bgd.2_Missense_Mutation_p.G35S|RIBC2_uc011aqs.1_5'Flank	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	35	ATP (Potential).				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTACCAGAGCCGTTGGGGCCG	0.687													T	45809346	C	T	45809346	3	4	23	1	0	0	0	0	1	0	0	0	14782	652	23	1	3704	1	SMC1B	22	45809346	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	53556	45809346	5495220	1572	22166											
FBLN1	2192	broad.mit.edu	37	chr22	45996231	45996231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgggcccatttcatgccGtcctgaagctggagatgaac	12	11	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:45996231G>A	uc003bgj.1	+	17	2164	c.2017G>A	c.(2017-2019)GTC>ATC	p.V673I	FBLN1_uc003bgk.1_RNA	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	673					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATTTCATGCCGTCCTGAAGCT	0.577													A	45996231	G	A	45996231	3	1	23	1	0	0	0	0	1	0	0	0	5698	1145	40	1	2563	1	FBLN1	22	45996231	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	186885	45996231	5308335	1573	22167											
FBLN1	2192	broad.mit.edu	37	chr22	45996292	45996292	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaccgaaatgttgtcaAcgtccacatcttcgtctctg	6	15	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:45996292A>G	uc003bgj.1	+	17	2225	c.2078A>G	c.(2077-2079)AAC>AGC	p.N693S	FBLN1_uc003bgk.1_RNA	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	693					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AATGTTGTCAACGTCCACATC	0.597													G	45996292	A	G	45996292	3	3	23	1	0	0	0	0	1	0	0	0	5698	43	2	3	2624	3	FBLN1	22	45996292	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	61	45996292	5308274	1574	22168											
PIM3	415116	broad.mit.edu	37	chr22	50356388	50356388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctaccaccgctaccacgGgcgctcggccaccgtgtggt	12	18	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:50356388G>A	uc003bjb.2	+	5	1121	c.668G>A	c.(667-669)GGG>GAG	p.G223E	PIM3_uc011arj.1_5'UTR	NM_001001852	NP_001001852	Q86V86	PIM3_HUMAN	serine/threonine protein kinase pim-3	223	Protein kinase.				cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity				0		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		CGCTACCACGGGCGCTCGGCC	0.667													A	50356388	G	A	50356388	3	1	23	1	0	0	0	0	1	0	0	0	11929	1232	43	4	686	4	PIM3	22	50356388	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	4360096	50356388	948178	1575	22169											
PANX2	56666	broad.mit.edu	37	chr22	50615790	50615790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagaagtacctggagcgcCgcggccgcagcaacttcctg	13	14	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:50615790C>T	uc003bjn.3	+	2	649	c.649C>T	c.(649-651)CGC>TGC	p.R217C	PANX2_uc003bjp.3_Missense_Mutation_p.R83C|PANX2_uc003bjo.3_Missense_Mutation_p.R217C	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	217	Cytoplasmic (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		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)		CCTGGAGCGCCGCGGCCGCAG	0.652													T	50615790	C	T	50615790	3	4	23	1	0	0	0	0	1	0	0	0	11421	652	23	1	655	1	PANX2	22	50615790	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	259402	50615790	688776	1576	22170											
MAPK12	6300	broad.mit.edu	37	chr22	50694077	50694077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgctgcacaaactcagcCggaggcgtccccgtcacctt	10	17	2	0	rs138308621		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:50694077C>T	uc003bkm.1	-	9	889	c.738G>A	c.(736-738)CCG>CCA	p.P246P	MAPK12_uc003bkn.2_Silent_p.P65P|MAPK12_uc003bko.2_Silent_p.P156P|MAPK12_uc003bkl.1_Silent_p.P236P|MAPK12_uc003bkp.2_Silent_p.P31P|MAPK12_uc003bkq.2_Silent_p.P65P	NM_002969	NP_002960	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	246	Protein kinase.				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAAACTCAGCCGGAGGCGTCC	0.667													T	50694077	C	T	50694077	2	4	23	1	0	0	0	0	0	0	0	1	9274	639	23	1		1	MAPK12	22	50694077	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	78287	50694077	610489	1577	22171											
KLHDC7B	113730	broad.mit.edu	37	chr22	50987980	50987980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggggtcacctcttctaccGcctgctcaggtacagccccg	11	17	4	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:50987980G>A	uc003bmi.2	+	1	1519	c.1385G>A	c.(1384-1386)CGC>CAC	p.R462H		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	462	Kelch 4.									central_nervous_system(1)	1		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCTTCTACCGCCTGCTCAGG	0.677													A	50987980	G	A	50987980	3	1	23	1	0	0	0	0	1	0	0	0	8361	1087	38	1	1387	1	KLHDC7B	22	50987980	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	293903	50987980	316586	1578	22172											
PPP2R3B	28227	broad.mit.edu	37	chrX	299579	299579	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgatgttgaagaaggtgtcGaagaagacgttagccagctt	13	6	0	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:299579G>A	uc004cpg.2	-	11	1605	c.1404C>T	c.(1402-1404)TTC>TTT	p.F468F	PPP2R3B_uc004cpf.2_Silent_p.F69F	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	468					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGAAGGTGTCGAAGAAGACGT	0.507													A	299579	G	A	299579	2	1	23	1	0	0	0	0	0	0	0	1	12389	1049	37	1		1	PPP2R3B	23	299579	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08		299579	154970981	1579	22173											
ARSF	416	broad.mit.edu	37	chrX	3021856	3021856	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcgtcccaggaattgtcCgatggcctggaaaggtacca	12	12	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:3021856C>T	uc004cre.1	+	9	1377	c.1156C>T	c.(1156-1158)CGA>TGA	p.R386*	ARSF_uc004crf.1_Nonsense_Mutation_p.R386*	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	386						extracellular region	arylsulfatase activity|metal ion binding			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGAATTGTCCGATGGCCTGG	0.458													T	3021856	C	T	3021856	4	4	23	1	0	0	0	0	0	1	0	0	991	644	23	1	1186	1	ARSF	23	3021856	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2722277	3021856	152248704	1580	22174											
MXRA5	25878	broad.mit.edu	37	chrX	3229209	3229209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgttccggatggtggcGggcgctgtcaccaccttgac	14	12	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:3229209G>A	uc004crg.3	-	7	7192	c.7035C>T	c.(7033-7035)CCC>CCT	p.P2345P		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2345	Ig-like C2-type 8.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGATGGTGGCGGGCGCTGTCA	0.562													A	3229209	G	A	3229209	2	1	23	1	0	0	0	0	0	0	0	1	10003	1103	39	1		1	MXRA5	23	3229209	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	207353	3229209	152041351	1581	22175											
PRKX	5613	broad.mit.edu	37	chrX	3592808	3592808	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgcccgaacgtcccagtgcCtggagagagaagaaatcgac	12	13	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:3592808C>A	uc010nde.2	-	2	534	c.167_splice	c.e2-1	p.G56_splice		NM_005044	NP_005035	P51817	PRKX_HUMAN	protein kinase, X-linked								ATP binding|cAMP-dependent protein kinase activity			skin(2)|lung(1)	3		all_lung(23;0.000396)|Lung NSC(23;0.00123)				GTCCCAGTGCCTGGAGAGAGA	0.557													A	3592808	C	A	3592808	5	1	23	1	0	0	0	0	0	0	1	0	12527	695	24	5	938	5	PRKX	23	3592808	Splice_Site	SNP	C	TCGA-BR-4368-01A-01D-1158-08	363599	3592808	151677752	1582	22176											
FAM9A	171482	broad.mit.edu	37	chrX	8767015	8767015	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtgtttacctgtgtgcTtcttcgccggggcggcccta	14	12	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:8767015T>C	uc004csg.2	-	3	323	c.212A>G	c.(211-213)AAG>AGG	p.K71R		NM_174951	NP_777611	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	71						nucleolus					0		Hepatocellular(5;0.219)				ACCTGTGTGCTTCTTCGCCGG	0.622													C	8767015	T	C	8767015	3	2	23	1	0	0	0	0	1	0	0	0	5659	1609	56	3	814	3	FAM9A	23	8767015	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	5174207	8767015	146503545	1583	22177											
CTPS2	56474	broad.mit.edu	37	chrX	16685651	16685651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttaccagaggaactggggCatttggcctaaactctgtgg	12	9	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:16685651C>T	uc004cxk.2	-	13	2026	c.1282G>A	c.(1282-1284)GCC>ACC	p.A428T	CTPS2_uc004cxl.2_Missense_Mutation_p.A428T|CTPS2_uc004cxm.2_Missense_Mutation_p.A428T	NM_001144002	NP_001137474	Q9NRF8	PYRG2_HUMAN	cytidine triphosphate synthase II	428	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			ovary(1)	1	Hepatocellular(33;0.0997)					GGAACTGGGGCATTTGGCCTA	0.383													T	16685651	C	T	16685651	3	4	23	1	0	0	0	0	1	0	0	0	4023	710	25	2	502	2	CTPS2	23	16685651	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	7918636	16685651	138584909	1584	22178											
CDKL5	6792	broad.mit.edu	37	chrX	18525131	18525131	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaatttcttccttcagaCggttttggatcttactgcac	8	9	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:18525131C>T	uc004cym.2	+	2	168	c.-85C>T	c.(-87--83)GACGG>GATGG		CDKL5_uc004cyn.2_Translation_Start_Site	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5						neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					TTCCTTCAGACGGTTTTGGAT	0.368													T	18525131	C	T	18525131	1	4	23	1	0	0	0	0	0	0	0	0	3157	551	19	1		1	CDKL5	23	18525131	Translation_Start_Site	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1839480	18525131	136745429	1585	22179											
MAP3K15	389840	broad.mit.edu	37	chrX	19416470	19416470	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccatttgcatcatggtcaTactcatactgaagaaggaaa	7	9	3	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:19416470T>C	uc004czk.1	-	16	2002	c.365A>G	c.(364-366)TAT>TGT	p.Y122C	MAP3K15_uc004czj.1_Missense_Mutation_p.Y82C	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	647							ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)					ATCATGGTCATACTCATACTG	0.443													C	19416470	T	C	19416470	3	2	23	1	0	0	0	0	1	0	0	0	9249	1406	49	3	2061	3	MAP3K15	23	19416470	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	891339	19416470	135854090	1586	22180											
EIF1AX	1964	broad.mit.edu	37	chrX	20153899	20153899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgacataacctctttacaCcatcgaaacacattgcttct	4	12	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:20153899C>T	uc004czt.2	-	3	369	c.161G>A	c.(160-162)GGT>GAT	p.G54D		NM_001412	NP_001403	P47813	IF1AX_HUMAN	X-linked eukaryotic translation initiation	54	S1-like.					cytosol	translation initiation factor activity			ovary(1)	1						CCTCTTTACACCATCGAAACA	0.373													T	20153899	C	T	20153899	3	4	23	1	0	0	0	0	1	0	0	0	4992	507	18	4	293	4	EIF1AX	23	20153899	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	737429	20153899	135116661	1587	22181											
SMPX	23676	broad.mit.edu	37	chrX	21772423	21772423	+	Splice_Site	DEL	A	A	-													attcatgcagtcttatccctAaaaaaacaagtaagaaactg							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:21772422_21772422TA>T	uc004daa.3	-	2	220	c.-11_splice	c.e2-1		SMPX_uc022btv.1_Splice_Site	NM_014332	NP_055147	Q9UHP9	SMPX_HUMAN	Homo sapiens small muscle protein, X-linked (SMPX), transcript variant 1, mRNA.						striated muscle contraction					breast(1)|endometrium(1)	2						GTCTTATCCCTAAAAAAACAA	0.408													-	21772423	A	-	21772423	8	5	23	1	0	1	0	1	0	0	1	0	14810	377	13	0		0	SMPX	23	21772423	Splice_Site	DEL	A	TCGA-BR-4368-01A-01D-1158-08	1618524	21772423	133498137	1588	22182											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998141	27998141	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaacacatttgattgtgtcAttatttctgtgccccttata	5	8	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:27998141A>G	uc004dbx.1	-	1	1426	c.1311T>C	c.(1309-1311)AAT>AAC	p.N437N		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	437	WD 6.									ovary(3)|skin(1)	4						TGATTGTGTCATTATTTCTGT	0.448													G	27998141	A	G	27998141	2	3	23	1	0	0	0	0	0	0	0	1	4277	214	8	3		3	DCAF8L1	23	27998141	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	6225718	27998141	127272419	1589	22183											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998625	27998625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacacgcttagtattctcgCaatatgatgcattaattagt	6	9	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:27998625C>T	uc004dbx.1	-	1	942	c.827G>A	c.(826-828)TGC>TAC	p.C276Y		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	276	WD 2.									ovary(3)|skin(1)	4						AGTATTCTCGCAATATGATGC	0.502													T	27998625	C	T	27998625	3	4	23	1	0	0	0	0	1	0	0	0	4277	710	25	2	979	2	DCAF8L1	23	27998625	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	484	27998625	127271935	1590	22184											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998761	27998761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accactctcaaagttcagtaCtggcttctgccgcacccagt	7	15	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:27998761C>T	uc004dbx.1	-	1	806	c.691G>A	c.(691-693)GTA>ATA	p.V231I		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	231	WD 1.									ovary(3)|skin(1)	4						AAGTTCAGTACTGGCTTCTGC	0.502													T	27998761	C	T	27998761	3	4	23	1	0	0	0	0	1	0	0	0	4277	565	20	4	1115	4	DCAF8L1	23	27998761	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	136	27998761	127271799	1591	22185											
USP9X	8239	broad.mit.edu	37	chrX	41012336	41012336	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagactatatgctagaggTatgtattgtaagctaaaata	9	3	0	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:41012336T>C	uc004dfb.2	+	14	2530	c.1897_splice	c.e14+2	p.D633_splice	USP9X_uc004dfc.2_Splice_Site_p.D633_splice	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						ATGCTAGAGGTATGTATTGTA	0.328													C	41012336	T	C	41012336	5	2	23	1	0	0	0	0	0	0	1	0	17087	1652	57	3	1949	3	USP9X	23	41012336	Splice_Site	SNP	T	TCGA-BR-4368-01A-01D-1158-08	13013575	41012336	114258224	1592	22186											
UBA1	7317	broad.mit.edu	37	chrX	47058955	47058955	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcgctgagctcaacagctAtgtgcctgtcactgcctaca	8	15	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:47058955A>C	uc004dhj.3	+	5	573	c.422A>C	c.(421-423)TAT>TCT	p.Y141S	UBA1_uc004dhk.3_Missense_Mutation_p.Y141S	NM_153280	NP_695012	P22314	UBA1_HUMAN	ubiquitin-activating enzyme E1	141	1-1.|2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			ovary(1)	1						CTCAACAGCTATGTGCCTGTC	0.557													C	47058955	A	C	47058955	3	2	23	1	0	0	0	0	1	0	0	0	16824	449	16	5	436	5	UBA1	23	47058955	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	6046619	47058955	108211605	1593	22187											
SSX5	6758	broad.mit.edu	37	chrX	48054732	48054732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtcacctcaccttttgCatcttctctggtatttgaga	8	11	4	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:48054732C>T	uc004dja.1	-	2	116	c.63G>A	c.(61-63)ATG>ATA	p.M21I	SSX5_uc004diz.1_Missense_Mutation_p.M21I	NM_175723	NP_783729	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5 isoform b	21	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding				0						TCACCTTTTGCATCTTCTCTG	0.542													T	48054732	C	T	48054732	3	4	23	1	0	0	0	0	1	0	0	0	15207	710	25	2	654	2	SSX5	23	48054732	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	995777	48054732	107215828	1594	22188											
CCNB3	85417	broad.mit.edu	37	chrX	50053728	50053728	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcccagtgttgacacagaAgctcactttaaggaaacttt	9	9	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:50053728A>G	uc004dox.3	+	6	2857	c.2559A>G	c.(2557-2559)GAA>GAG	p.E853E	CCNB3_uc004doy.2_Silent_p.E853E|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	853					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					TTGACACAGAAGCTCACTTTA	0.532													G	50053728	A	G	50053728	2	3	23	1	0	0	0	0	0	0	0	1	2914	69	3	3		3	CCNB3	23	50053728	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	1998996	50053728	105216832	1595	22189											
SMC1A	8243	broad.mit.edu	37	chrX	53426512	53426512	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taattctttccttccttaccTttttgagcttttctatctca	2	11	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:53426512T>C	uc004dsg.2	-	16	2630	c.2561A>G	c.(2560-2562)AAG>AGG	p.K854R	SMC1A_uc011moe.1_Missense_Mutation_p.K832R	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	854	Potential.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6						CTTCCTTACCTTTTTGAGCTT	0.323													C	53426512	T	C	53426512	3	2	23	1	0	0	0	0	1	0	0	0	14781	1623	56	3	1180	3	SMC1A	23	53426512	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	3372784	53426512	101844048	1596	22190											
HUWE1	10075	broad.mit.edu	37	chrX	53586422	53586422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctaccaggaggcgggccCgaccccggctttgtagggga	16	13	0	0	rs146149373		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:53586422C>T	uc004dsp.2	-	57	8210	c.7808G>A	c.(7807-7809)CGG>CAG	p.R2603Q	HUWE1_uc004dsn.2_Missense_Mutation_p.R1427Q|uc004dss.2_5'Flank|MIRLET7F2_hsa-let-7f-2|MI0000068_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2603					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GAGGCGGGCCCGACCCCGGCT	0.567													T	53586422	C	T	53586422	3	4	23	1	0	0	0	0	1	0	0	0	7461	652	23	1	5428	1	HUWE1	23	53586422	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	159910	53586422	101684138	1597	22191											
HUWE1	10075	broad.mit.edu	37	chrX	53590731	53590731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgtactgttcccagatcCgccatccctctcaagcaact	5	15	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:53590731C>T	uc004dsp.2	-	52	7483	c.7081G>A	c.(7081-7083)GGA>AGA	p.G2361R	HUWE1_uc004dsn.2_Missense_Mutation_p.G1185R	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2361	Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						TTCCCAGATCCGCCATCCCTC	0.453													T	53590731	C	T	53590731	3	4	23	1	0	0	0	0	1	0	0	0	7461	661	23	1	6175	1	HUWE1	23	53590731	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	4309	53590731	101679829	1598	22192											
GNL3L	54552	broad.mit.edu	37	chrX	54578085	54578085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcccaactcagaggtgggCaccatcctgcgtaactgcgt	13	13	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:54578085C>T	uc004dth.1	+	11	1087	c.948C>T	c.(946-948)GGC>GGT	p.G316G	GNL3L_uc004dti.2_RNA	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3	316	G.				ribosome biogenesis	nucleolus	GTP binding			ovary(1)	1						CAGAGGTGGGCACCATCCTGC	0.612													T	54578085	C	T	54578085	2	4	23	1	0	0	0	0	0	0	0	1	6538	697	25	2		2	GNL3L	23	54578085	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	987354	54578085	100692475	1599	22193											
GNL3L	54552	broad.mit.edu	37	chrX	54578110	54578110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcgtaactgcgtccacGtgcagaagctggcagaccct	11	14	0	2	rs148611493		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:54578110G>A	uc004dth.1	+	11	1112	c.973G>A	c.(973-975)GTG>ATG	p.V325M	GNL3L_uc004dti.2_RNA	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3	325					ribosome biogenesis	nucleolus	GTP binding			ovary(1)	1						CTGCGTCCACGTGCAGAAGCT	0.627													A	54578110	G	A	54578110	3	1	23	1	0	0	0	0	1	0	0	0	6538	1145	40	1	1011	1	GNL3L	23	54578110	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	25	54578110	100692450	1600	22194											
TRO	7216	broad.mit.edu	37	chrX	54955519	54955519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcactagctccagcttcAgcagcgcagccagcattagc	10	14	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:54955519A>G	uc004dtq.2	+	12	2469	c.2362A>G	c.(2362-2364)AGC>GGC	p.S788G	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.S319G|TRO_uc004dtw.2_Missense_Mutation_p.S391G|TRO_uc004dtx.2_Missense_Mutation_p.S171G	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	788	4.|62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						CTCCAGCTTCAGCAGCGCAGC	0.532													G	54955519	A	G	54955519	3	3	23	1	0	0	0	0	1	0	0	0	16571	188	7	3	2404	3	TRO	23	54955519	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	377409	54955519	100315041	1601	22195											
TRO	7216	broad.mit.edu	37	chrX	54955602	54955602	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcattagctttggtggCatgccttgtaccagtgccag	12	11	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:54955602C>T	uc004dtq.2	+	12	2552	c.2445C>T	c.(2443-2445)GGC>GGT	p.G815G	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.G346G|TRO_uc004dtw.2_Silent_p.G418G|TRO_uc004dtx.2_Silent_p.G198G	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	815	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						GCTTTGGTGGCATGCCTTGTA	0.547													T	54955602	C	T	54955602	2	4	23	1	0	0	0	0	0	0	0	1	16571	697	25	2		2	TRO	23	54955602	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	83	54955602	100314958	1602	22196											
LAS1L	81887	broad.mit.edu	37	chrX	64734815	64734815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtcctcggtctgacctgGcattcggcctaggggaaatg	15	10	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:64734815G>A	uc004dwa.1	-	13	2038	c.1966C>T	c.(1966-1968)CCA>TCA	p.P656S	LAS1L_uc004dwc.1_Missense_Mutation_p.P639S|LAS1L_uc004dwd.1_Missense_Mutation_p.P597S|LAS1L_uc004dvy.1_Missense_Mutation_p.P169S|LAS1L_uc004dvz.1_Missense_Mutation_p.P169S	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	LAS1-like	656						MLL1 complex|nucleolus	protein binding			ovary(3)|large_intestine(1)	4						GTCTGACCTGGCATTCGGCCT	0.562													A	64734815	G	A	64734815	3	1	23	1	0	0	0	0	1	0	0	0	8636	1203	42	2	246	2	LAS1L	23	64734815	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	9779213	64734815	90535745	1603	22197											
AR	367	broad.mit.edu	37	chrX	66937333	66937333	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccaggcttccgcaacttAcacgtggacgaccagatggc	10	14	1	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:66937333A>G	uc004dwu.1	+	5	3302	c.2187A>G	c.(2185-2187)TTA>TTG	p.L729L	AR_uc004dwv.1_Silent_p.L197L	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	728	Ligand-binding.|Interaction with MYST2.		L -> S (in PAIS).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.L729I(1)		ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TCCGCAACTTACACGTGGACG	0.557									Androgen_Insensitivity_Syndrome				G	66937333	A	G	66937333	2	3	23	1	0	0	0	0	0	0	0	1	836	388	14	3		3	AR	23	66937333	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	2202518	66937333	88333227	1604	22198											
PJA1	64219	broad.mit.edu	37	chrX	68381384	68381384	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctctccttgcttgctggtggAttggccacctctacatccac	8	15	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:68381384A>T	uc004dxh.2	-	2	1984	c.1698T>A	c.(1696-1698)AAT>AAA	p.N566K	PJA1_uc011mpi.1_Missense_Mutation_p.N284K|PJA1_uc004dxg.2_Missense_Mutation_p.N378K|PJA1_uc004dxi.2_Missense_Mutation_p.N511K	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	566							zinc ion binding				0						TTGCTGGTGGATTGGCCACCT	0.557													T	68381384	A	T	68381384	3	4	23	1	0	0	0	0	1	0	0	0	11961	330	12	5	237	5	PJA1	23	68381384	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	1444051	68381384	86889176	1605	22199											
FAM155B	27112	broad.mit.edu	37	chrX	68749653	68749653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccggtctctgggggctccCgcctcagccctagcaggatc	13	16	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:68749653C>T	uc004dxk.2	+	3	1321	c.1273C>T	c.(1273-1275)CGC>TGC	p.R425C		NM_015686	NP_056501	O75949	F155B_HUMAN	transmembrane protein 28	426						integral to membrane				ovary(1)|breast(1)	2						TGGGGGCTCCCGCCTCAGCCC	0.517													T	68749653	C	T	68749653	3	4	23	1	0	0	0	0	1	0	0	0	5466	652	23	1	1283	1	FAM155B	23	68749653	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	368269	68749653	86520907	1606	22200											
IGBP1	3476	broad.mit.edu	37	chrX	69385717	69385717	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagctcagcaacaggaagaAcaagaagaaaaggaggaaga	13	6	1	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:69385717A>G	uc004dxv.2	+	6	1405	c.906A>G	c.(904-906)GAA>GAG	p.E302E	IGBP1_uc004dxw.2_Silent_p.E302E	NM_001551	NP_001542	P78318	IGBP1_HUMAN	immunoglobulin binding protein 1	302					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(1)|pancreas(1)	2						AACAGGAAGAACAAGAAGAAA	0.473													G	69385717	A	G	69385717	2	3	23	1	0	0	0	0	0	0	0	1	7567	40	2	3		3	IGBP1	23	69385717	Silent	SNP	A	TCGA-BR-4368-01A-01D-1158-08	636064	69385717	85884843	1607	22201											
ARR3	407	broad.mit.edu	37	chrX	69496058	69496058	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgaatccagcagccctcAggggcccctcacagtcctac	9	17	2	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:69496058A>G	uc004dyb.2	+	6	340	c.272A>G	c.(271-273)CAG>CGG	p.Q91R	ARR3_uc004dya.2_Missense_Mutation_p.Q91R	NM_004312	NP_004303	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	91					signal transduction|visual perception	cytoplasm|soluble fraction				large_intestine(2)|ovary(2)	4						AGCAGCCCTCAGGGGCCCCTC	0.577													G	69496058	A	G	69496058	3	3	23	1	0	0	0	0	1	0	0	0	979	188	7	3	290	3	ARR3	23	69496058	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	110341	69496058	85774502	1608	22202											
DLG3	1741	broad.mit.edu	37	chrX	69712027	69712027	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggctcagcttctcttatggtGacattctgcatgtcattaat	8	9	4	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:69712027G>T	uc004dyi.1	+	11	1919	c.1591G>T	c.(1591-1593)GAC>TAC	p.D531Y	DLG3_uc004dyj.1_Missense_Mutation_p.D194Y|DLG3_uc011mpn.1_Missense_Mutation_p.D47Y	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	531	SH3.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					CTCTTATGGTGACATTCTGCA	0.527													T	69712027	G	T	69712027	3	4	23	1	0	0	0	0	1	0	0	0	4556	1290	45	5	1771	5	DLG3	23	69712027	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	215969	69712027	85558533	1609	22203											
NLGN3	54413	broad.mit.edu	37	chrX	70367840	70367840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgcagctcccccgatcggcGagaaacgtttcctgccccct	9	18	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:70367840G>A	uc004dzd.1	+	1	441	c.241G>A	c.(241-243)GAG>AAG	p.E81K	NLGN3_uc010nlb.1_Missense_Mutation_p.E81K|NLGN3_uc004dzb.2_Missense_Mutation_p.E81K|NLGN3_uc004dzc.2_Intron|NLGN3_uc011mps.1_Missense_Mutation_p.E81K|NLGN3_uc011mpr.1_Missense_Mutation_p.E81K	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	81	Extracellular (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)					CCCGATCGGCGAGAAACGTTT	0.632													A	70367840	G	A	70367840	3	1	23	1	0	0	0	0	1	0	0	0	10463	1059	37	1	243	1	NLGN3	23	70367840	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	655813	70367840	84902720	1610	22204											
PHKA1	5255	broad.mit.edu	37	chrX	71813009	71813009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactggaactctattcagtGccccatccagccttcttcgg	7	15	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:71813009G>A	uc004eax.3	-	29	3489	c.3188C>T	c.(3187-3189)GCA>GTA	p.A1063V	PHKA1_uc004eay.3_Missense_Mutation_p.A1050V|PHKA1_uc011mqi.1_Missense_Mutation_p.A991V|PHKA1_uc010nll.2_Missense_Mutation_p.A95V	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	1063	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					TCTATTCAGTGCCCCATCCAG	0.423													A	71813009	G	A	71813009	3	1	23	1	0	0	0	0	1	0	0	0	11843	1319	46	2	499	2	PHKA1	23	71813009	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1445169	71813009	83457551	1611	22205											
ATRX	546	broad.mit.edu	37	chrX	76937945	76937945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcagcaacttttctaacttCcaaagaagtaaaactctgct	4	10	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:76937945C>T	uc004ecp.3	-	9	3035	c.2803G>A	c.(2803-2805)GAA>AAA	p.E935K	ATRX_uc004ecq.3_Missense_Mutation_p.E897K|ATRX_uc004eco.3_Missense_Mutation_p.E720K|ATRX_uc004ecr.2_Missense_Mutation_p.E867K|ATRX_uc010nlx.1_Missense_Mutation_p.E906K|ATRX_uc010nly.1_Missense_Mutation_p.E880K	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	935					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TTTCTAACTTCCAAAGAAGTA	0.378			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76937945	C	T	76937945	3	4	23	1	0	0	0	0	1	0	0	0	1208	864	30	4	4783	4	ATRX	23	76937945	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	5124936	76937945	78332615	1612	22206											
LPAR4	2846	broad.mit.edu	37	chrX	78010323	78010323	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccggtccatagtgtcagaGtggtgaacccctgcagccag	12	12	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:78010323G>A	uc010nme.2	+	2	362	c.-43G>A	c.(-45--41)GAGTG>GAATG			NM_005296	NP_005287	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4							integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			ovary(3)	3						TAGTGTCAGAGTGGTGAACCC	0.418													A	78010323	G	A	78010323	1	1	23	1	0	0	0	0	0	0	0	0	8907	1044	36	4		4	LPAR4	23	78010323	Translation_Start_Site	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1072378	78010323	77260237	1613	22207											
RPA4	29935	broad.mit.edu	37	chrX	96139888	96139888	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaatgatgctggggataaCgatgagagtcaccgcaattt	13	6	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:96139888C>T	uc004efv.3	+	1	877	c.579C>T	c.(577-579)AAC>AAT	p.N193N	DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	replication protein A4, 34kDa	193					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding				0						CTGGGGATAACGATGAGAGTC	0.502								Other_identified_genes_with_known_or_suspected_DNA_repair_function					T	96139888	C	T	96139888	2	4	23	1	0	0	0	0	0	0	0	1	13539	535	19	1		1	RPA4	23	96139888	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	18129565	96139888	59130672	1614	22208											
SRPX2	27286	broad.mit.edu	37	chrX	99924335	99924335	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggcgcatccgggagcaaCagctgtcagccaacatcatc	12	13	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:99924335C>T	uc004egb.2	+	10	1666	c.1186C>T	c.(1186-1188)CAG>TAG	p.Q396*		NM_014467	NP_055282	O60687	SRPX2_HUMAN	sushi-repeat-containing protein, X-linked 2	396					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			ovary(2)	2						CCGGGAGCAACAGCTGTCAGC	0.637													T	99924335	C	T	99924335	4	4	23	1	0	0	0	0	0	1	0	0	15164	479	17	4	1220	4	SRPX2	23	99924335	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3784447	99924335	55346225	1615	22209											
BTK	695	broad.mit.edu	37	chrX	100609618	100609618	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgaaaaagccacactcacCtggacaggccgaaatcagat	9	11	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:100609618C>A	uc004ehg.2	-	16	1824	c.1631G>T	c.(1630-1632)AGG>ATG	p.R544M	BTK_uc004ehf.2_Missense_Mutation_p.R44M|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_RNA|BTK_uc010nnj.2_Intron|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Intron|BTK_uc010nnm.2_Missense_Mutation_p.R114M|BTK_uc010nnn.2_Missense_Mutation_p.R368M|BTK_uc010nno.2_Missense_Mutation_p.R578M|BTK_uc004ehh.1_RNA	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	544	Protein kinase.		R -> K (in XLA).|R -> G (in XLA).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			lung(3)|central_nervous_system(2)|ovary(1)	6						CCACACTCACCTGGACAGGCC	0.423									Agammaglobulinemia_X-linked				A	100609618	C	A	100609618	3	1	23	1	0	0	0	0	1	0	0	0	1557	695	24	5	364	5	BTK	23	100609618	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	685283	100609618	54660942	1616	22210											
BTK	695	broad.mit.edu	37	chrX	100617587	100617587	+	Frame_Shift_Del	DEL	T	T	-													aaatttggcagcccatagcaTttttggctgtctgagagcag							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:100617586_100617586AT>A	uc010nno.2	-	5	818	c.585_585AT>T	c.(583-585)aatfs	p.N195fs	BTK_uc004ehg.2_Frame_Shift_Del_p.N161fs|BTK_uc010nnn.2_Frame_Shift_Del_p.N161fs|BTK_uc004ehi.3_Frame_Shift_Del_p.N161fs	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	161					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.E194D(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGCCCATAGCATTTTTGGCTG	0.443									Agammaglobulinemia, X-linked				-	100617587	T	-	100617587	7	5	23	1	0	1	0	1	0	0	0	0	1557	1493	52	0	1553	0	BTK	23	100617587	Frame_Shift_Del	DEL	T	TCGA-BR-4368-01A-01D-1158-08	7969	100617587	54652973	1617	22211											
BHLHB9	80823	broad.mit.edu	37	chrX	102005017	102005017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtttattaacgaagtagGtgtagtgacacttattgaaa	10	3	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:102005017G>A	uc010nog.2	+	4	1665	c.1094G>A	c.(1093-1095)GGT>GAT	p.G365D	BHLHB9_uc011mrq.1_Missense_Mutation_p.G365D|BHLHB9_uc011mrr.1_Missense_Mutation_p.G365D|BHLHB9_uc011mrs.1_Missense_Mutation_p.G365D|BHLHB9_uc011mrt.1_Missense_Mutation_p.G365D|BHLHB9_uc004ejo.2_Missense_Mutation_p.G365D|BHLHB9_uc011mru.1_Missense_Mutation_p.G365D|BHLHB9_uc011mrv.1_Missense_Mutation_p.G365D	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	365						cytoplasm|nucleus	binding			ovary(2)	2						AACGAAGTAGGTGTAGTGACA	0.388													A	102005017	G	A	102005017	3	1	23	1	0	0	0	0	1	0	0	0	1420	1261	44	4	1096	4	BHLHB9	23	102005017	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1387430	102005017	53265543	1618	22212											
GLRA4	441509	broad.mit.edu	37	chrX	102979004	102979004	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggctatccacccggtgcAcctgatgctgtacagcacat	9	15	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:102979004A>G	uc011mse.1	-	4	915	c.494_splice	c.e4+1	p.R165_splice	GLRA4_uc010nou.2_Splice_Site_p.R165_splice	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4 precursor							cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity				0						CACCCGGTGCACCTGATGCTG	0.527													G	102979004	A	G	102979004	5	3	23	1	0	0	0	0	0	0	1	0	6457	173	6	3	876	3	GLRA4	23	102979004	Splice_Site	SNP	A	TCGA-BR-4368-01A-01D-1158-08	973987	102979004	52291556	1619	22213											
ESX1	80712	broad.mit.edu	37	chrX	103495262	103495262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtggcacaggcgccatgcGtggcccgggtggcacaggcg	20	12	0	0	rs148783552	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:103495262G>A	uc004ely.2	-	4	926	c.868C>T	c.(868-870)CGC>TGC	p.R290C		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	extraembryonic, spermatogenesis, homeobox	290	6.|15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGCGCCATGCGTGGCCCGGGT	0.572													A	103495262	G	A	103495262	3	1	23	1	0	0	0	0	1	0	0	0	5263	1145	40	1	356	1	ESX1	23	103495262	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	516258	103495262	51775298	1620	22214											
IRS4	8471	broad.mit.edu	37	chrX	107977803	107977804	+	Frame_Shift_Ins	INS	-	-	C													cccacttcctgagcctttgcINScccccccagagttcttgcca							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:107977802_107977803G>GC	uc004eoc.2	-	0	1805_1806	c.1772_1773C>GC	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													C	107977804	-	C	107977803	7	5	23	1	0	1	1	0	0	0	0	0	7842	739	26	0	2005	0	IRS4	23	107977803	Frame_Shift_Ins	INS	-	TCGA-BR-4368-01A-01D-1158-08	4482541	107977803	47292757	1621	22215											
LHFPL1	340596	broad.mit.edu	37	chrX	111914251	111914251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttacctccaacaaactgcGctgctcccatgcaacgtccc	5	18	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:111914251G>A	uc004epq.2	-	2	701	c.368C>T	c.(367-369)GCG>GTG	p.A123V	LHFPL1_uc004epp.2_Missense_Mutation_p.A146V|LHFPL1_uc010nqa.2_Intron|LHFPL1_uc010nqb.2_Missense_Mutation_p.A123V	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1 precursor	123	Helical; (Potential).					integral to membrane					0						AACAAACTGCGCTGCTCCCAT	0.577													A	111914251	G	A	111914251	3	1	23	1	0	0	0	0	1	0	0	0	8764	1087	38	1	306	1	LHFPL1	23	111914251	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3936448	111914251	43356309	1622	22216											
AMOT	154796	broad.mit.edu	37	chrX	112058802	112058802	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctgctgctgttgTtggtggtgatggtgatgatg	18	5	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:112058802T>G	uc004epr.2	-	2	1176	c.1176A>C	c.(1174-1176)CAA>CAC	p.Q392H	AMOT_uc004eps.2_5'UTR|AMOT_uc004ept.1_Missense_Mutation_p.Q392H	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	392					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						gctgctgttgttggtggtgat	0.338													G	112058802	T	G	112058802	3	3	23	1	0	0	0	0	1	0	0	0	582	1722	60	5	2118	5	AMOT	23	112058802	Missense_Mutation	SNP	T	TCGA-BR-4368-01A-01D-1158-08	144551	112058802	43211758	1623	22217											
SLC6A14	11254	broad.mit.edu	37	chrX	115582757	115582757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtctcactagcgtgtttGctggatttgctattttttct	8	8	2	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:115582757G>A	uc004eqi.2	+	8	1185	c.1081G>A	c.(1081-1083)GCT>ACT	p.A361T		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid	361	Helical; Name=7; (Potential).				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)|pancreas(1)	3					L-Proline(DB00172)	TAGCGTGTTTGCTGGATTTGC	0.358													A	115582757	G	A	115582757	3	1	23	1	0	0	0	0	1	0	0	0	14677	1319	46	2	1111	2	SLC6A14	23	115582757	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	3523955	115582757	39687803	1624	22218											
WDR44	54521	broad.mit.edu	37	chrX	117529236	117529236	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggaaaagcacctgatgggCagactgtagcaggtgaagtg	15	6	0	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:117529236C>T	uc004eqn.2	+	6	1407	c.982C>T	c.(982-984)CAG>TAG	p.Q328*	WDR44_uc004eqo.2_Nonsense_Mutation_p.Q328*|WDR44_uc011mtr.1_Nonsense_Mutation_p.Q303*|WDR44_uc010nqi.2_Nonsense_Mutation_p.Q38*	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	328						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						ACCTGATGGGCAGACTGTAGC	0.348													T	117529236	C	T	117529236	4	4	23	1	0	0	0	0	0	1	0	0	17293	711	25	2	1004	2	WDR44	23	117529236	Nonsense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1946479	117529236	37741324	1625	22219											
ZBTB33	10009	broad.mit.edu	37	chrX	119387551	119387551	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttctaaaattgttcgtgttaGatcagatttgcttgatgagt	9	4	2	4			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:119387551G>C	uc004esn.1	+	2	509	c.281G>C	c.(280-282)AGA>ACA	p.R94T	ZBTB33_uc010nqm.1_Missense_Mutation_p.R94T	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	kaiso	94	BTB.|Self-association (By similarity).|Interaction with NCOR1.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						GTTCGTGTTAGATCAGATTTG	0.358													C	119387551	G	C	119387551	3	2	23	1	0	0	0	0	1	0	0	0	17533	942	33	5	283	5	ZBTB33	23	119387551	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1858315	119387551	35883009	1626	22220											
ODZ1	10178	broad.mit.edu	37	chrX	123785941	123785941	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttggagtcctgcttgaccaGctgtttgccatccattagtt	9	11	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:123785941G>T	uc004euj.2	-	8	1466	c.1402C>A	c.(1402-1404)CTG>ATG	p.L468M	ODZ1_uc011muj.1_Missense_Mutation_p.L467M|ODZ1_uc010nqy.2_Missense_Mutation_p.L468M	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	468	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TGCTTGACCAGCTGTTTGCCA	0.418													T	123785941	G	T	123785941	3	4	23	1	0	0	0	0	1	0	0	0	10834	962	34	5	6896	5	ODZ1	23	123785941	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	4398390	123785941	31484619	1627	22221											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298898	125298898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccggatgttctgctggCgctggcgcggatccaggaag	19	10	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:125298898C>T	uc004euk.1	-	1	1037	c.1010G>A	c.(1009-1011)CGC>CAC	p.R337H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	337										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						GTTCTGCTGGCGCTGGCGCGG	0.622													T	125298898	C	T	125298898	3	4	23	1	0	0	0	0	1	0	0	0	4265	768	27	1	385	1	DCAF12L2	23	125298898	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1512957	125298898	29971662	1628	22222											
IGSF1	3547	broad.mit.edu	37	chrX	130419221	130419221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcatctggatatgagtgCggcagatgtaaaccccttca	12	9	2	2	rs149790689		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:130419221C>T	uc004ewd.2	-	5	837	c.599G>A	c.(598-600)CGC>CAC	p.R200H	IGSF1_uc004ewe.3_Missense_Mutation_p.R189H|IGSF1_uc004ewf.2_Missense_Mutation_p.R180H|IGSF1_uc004ewg.2_Missense_Mutation_p.R200H	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	200	Ig-like C2-type 2.|Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						GATATGAGTGCGGCAGATGTA	0.552													T	130419221	C	T	130419221	3	4	23	1	0	0	0	0	1	0	0	0	7596	768	27	1	3552	1	IGSF1	23	130419221	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	5120323	130419221	24851339	1629	22223											
TFDP3	51270	broad.mit.edu	37	chrX	132351232	132351232	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcaggtcactggcagaaagCcacgtgccattagacctgga	12	11	2	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:132351232C>A	uc004exb.1	-	1	1145	c.1056G>T	c.(1054-1056)TGG>TGT	p.W352C		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	352						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					TGGCAGAAAGCCACGTGCCAT	0.567													A	132351232	C	A	132351232	3	1	23	1	0	0	0	0	1	0	0	0	15796	740	26	5	165	5	TFDP3	23	132351232	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1932011	132351232	22919328	1630	22224											
GPC3	2719	broad.mit.edu	37	chrX	132887715	132887715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaccacattgcagtaacCgccacagggtttaaccatca	7	13	1	1	rs141100113	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:132887715C>T	uc004exe.1	-	3	1016	c.826G>A	c.(826-828)GGT>AGT	p.G276S	GPC3_uc004exd.1_Missense_Mutation_p.G148S|GPC3_uc010nrn.1_Missense_Mutation_p.G276S|GPC3_uc011mvh.1_Missense_Mutation_p.G260S|GPC3_uc010nro.1_Missense_Mutation_p.G222S|GPC3_uc010nrp.1_Missense_Mutation_p.G148S	NM_004484	NP_004475	P51654	GPC3_HUMAN	glypican 3 isoform 2 precursor	276						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			lung(2)|prostate(1)|breast(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					TTGCAGTAACCGCCACAGGGT	0.483			T|D|Mis|N|F|S			Wilms tumour			Simpson-Golabi-Behmel_syndrome				T	132887715	C	T	132887715	3	4	23	1	0	0	0	0	1	0	0	0	6599	652	23	1	1013	1	GPC3	23	132887715	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	536483	132887715	22382845	1631	22225											
MAP7D3	79649	broad.mit.edu	37	chrX	135313852	135313852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttgggggctacttctgCgctccccttgggaggtgctt	13	13	1	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:135313852C>T	uc004ezt.2	-	8	1355	c.1264G>A	c.(1264-1266)GCA>ACA	p.A422T	MAP7D3_uc004ezs.2_Missense_Mutation_p.A386T|MAP7D3_uc011mwc.1_Missense_Mutation_p.A404T|MAP7D3_uc010nsa.1_Missense_Mutation_p.A380T	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	422						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					GCTACTTCTGCGCTCCCCTTG	0.612													T	135313852	C	T	135313852	3	4	23	1	0	0	0	0	1	0	0	0	9269	768	27	1	1410	1	MAP7D3	23	135313852	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	2426137	135313852	19956708	1632	22226											
HTATSF1	27336	broad.mit.edu	37	chrX	135593604	135593604	+	Frame_Shift_Del	DEL	A	A	-													ctccgaaagagaatttgaagAaaatggtctcgagaaagatt							TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:135593603_135593603GA>G	uc004ezw.3	+	9	2121	c.1699_1699GA>G	c.(1699-1701)gaafs	p.E567fs	HTATSF1_uc004ezx.3_Frame_Shift_Del_p.E567fs	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	567	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AGAATTTGAAGAAAATGGTCT	0.408													-	135593604	A	-	135593604	7	5	23	1	0	1	0	1	0	0	0	0	7433	246	9	0	1734	0	HTATSF1	23	135593604	Frame_Shift_Del	DEL	A	TCGA-BR-4368-01A-01D-1158-08	279752	135593604	19676956	1633	22227											
SLITRK2	84631	broad.mit.edu	37	chrX	144904851	144904851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggctccgaaagccagccGgccgcccaaaatgagaaatc	11	14	0	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:144904851G>A	uc004fcd.2	+	5	1898	c.908G>A	c.(907-909)CGG>CAG	p.R303Q	SLITRK2_uc010nsp.2_Missense_Mutation_p.R303Q|SLITRK2_uc010nso.2_Missense_Mutation_p.R303Q|SLITRK2_uc011mwq.1_Missense_Mutation_p.R303Q|SLITRK2_uc011mwr.1_Missense_Mutation_p.R303Q|SLITRK2_uc011mws.1_Missense_Mutation_p.R303Q|SLITRK2_uc004fcg.2_Missense_Mutation_p.R303Q|SLITRK2_uc011mwt.1_Missense_Mutation_p.R303Q	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	303	Extracellular (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGCCAGCCGGCCGCCCAAA	0.547													A	144904851	G	A	144904851	3	1	23	1	0	0	0	0	1	0	0	0	14743	1116	39	1	910	1	SLITRK2	23	144904851	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	9311247	144904851	10365709	1634	22228											
FMR1NB	158521	broad.mit.edu	37	chrX	147106459	147106459	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaagaaggaagcgaaAgaggaagtctgaaatgttac	12	4	1	3			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:147106459A>G	uc004fcm.2	+	5	781	c.707A>G	c.(706-708)AAG>AGG	p.K236R		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	236	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAAGCGAAAGAGGAAGTCT	0.413													G	147106459	A	G	147106459	3	3	23	1	0	0	0	0	1	0	0	0	5961	72	3	3	725	3	FMR1NB	23	147106459	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	2201608	147106459	8164101	1635	22229											
GPR50	9248	broad.mit.edu	37	chrX	150348463	150348463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgccacagcctccagtaCgaacggatcttcagtgtgcg	10	13	3	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:150348463C>T	uc010ntg.1	+	2	543	c.408C>T	c.(406-408)TAC>TAT	p.Y136Y	uc004fes.1_5'Flank|GPR50_uc011myc.1_Silent_p.Y136Y	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	136	Cytoplasmic (Potential).				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTCCAGTACGAACGGATCT	0.542													T	150348463	C	T	150348463	2	4	23	1	0	0	0	0	0	0	0	1	6697	547	19	1		1	GPR50	23	150348463	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	3242004	150348463	4922097	1636	22230											
CNGA2	1260	broad.mit.edu	37	chrX	150911109	150911109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacctcttcatccgattgcGcacaggtcagtgagcaactg	11	12	3	1			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:150911109G>A	uc004fey.1	+	6	808	c.584G>A	c.(583-585)CGC>CAC	p.R195H		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	195	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCGATTGCGCACAGGTCAG	0.478													A	150911109	G	A	150911109	3	1	23	1	0	0	0	0	1	0	0	0	3597	1087	38	1	602	1	CNGA2	23	150911109	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	562646	150911109	4359451	1637	22231											
ATP2B3	492	broad.mit.edu	37	chrX	152845658	152845658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaacaacgccatagacagcGgcatctacctgaccacgcat	7	15	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:152845658G>A	uc004fht.1	+	20	3691	c.3565G>A	c.(3565-3567)GGC>AGC	p.G1189S	ATP2B3_uc004fhs.1_3'UTR|ATP2B3_uc010nuf.1_Missense_Mutation_p.G326S|ATP2B3_uc004fhu.1_Missense_Mutation_p.G141S	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	1189	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATAGACAGCGGCATCTACCT	0.627													A	152845658	G	A	152845658	3	1	23	1	0	0	0	0	1	0	0	0	1141	1116	39	1	3801	1	ATP2B3	23	152845658	Missense_Mutation	SNP	G	TCGA-BR-4368-01A-01D-1158-08	1934549	152845658	2424902	1638	22232											
SRPK3	26576	broad.mit.edu	37	chrX	153046961	153046961	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacatctcccctgggcaggCggctaccaccctgtgaagat	10	15	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:153046961C>T	uc004fil.2	+	3	224	c.192C>T	c.(190-192)GGC>GGT	p.G64G	SRPK3_uc004fik.2_Silent_p.G130G|SRPK3_uc010nul.2_Silent_p.G22G|SRPK3_uc004fin.2_Silent_p.G64G|SRPK3_uc004fim.2_Silent_p.G64G	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	serine arginine rich protein-specific kinase 3	64					cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			pancreas(2)|lung(1)	3	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGGCAGGCGGCTACCACC	0.657													T	153046961	C	T	153046961	2	4	23	1	0	0	0	0	0	0	0	1	15160	782	27	1		1	SRPK3	23	153046961	Silent	SNP	C	TCGA-BR-4368-01A-01D-1158-08	201303	153046961	2223599	1639	22233											
SRPK3	26576	broad.mit.edu	37	chrX	153048550	153048550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtggcaacaggcaggggCgccgcccccctcccgctcca	14	18	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:153048550C>T	uc004fil.2	+	7	757	c.725C>T	c.(724-726)GCG>GTG	p.A242V	SRPK3_uc004fik.2_Missense_Mutation_p.A308V|SRPK3_uc010nul.2_Missense_Mutation_p.A200V|SRPK3_uc004fin.2_Missense_Mutation_p.A242V|SRPK3_uc004fim.2_Missense_Mutation_p.A242V	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	serine arginine rich protein-specific kinase 3	242	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			pancreas(2)|lung(1)	3	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCAGGGGCGCCGCCCCCC	0.667													T	153048550	C	T	153048550	3	4	23	1	0	0	0	0	1	0	0	0	15160	768	27	1	751	1	SRPK3	23	153048550	Missense_Mutation	SNP	C	TCGA-BR-4368-01A-01D-1158-08	1589	153048550	2222010	1640	22234											
FLNA	2316	broad.mit.edu	37	chrX	153577241	153577241	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccacaacgcggtagggGctgcctgggatgtgctcgtc	16	12	0	0			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:153577241G>A	uc004fkk.2	-	48	8169	c.7920C>T	c.(7918-7920)AGC>AGT	p.S2640S	FLNA_uc004fki.2_Silent_p.S680S|FLNA_uc011mzn.1_Silent_p.S773S|FLNA_uc010nuu.1_Silent_p.S2632S	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	2640	Self-association site, tail.|Filamin 24.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCGGTAGGGGCTGCCTGGGA	0.677													A	153577241	G	A	153577241	2	1	23	1	0	0	0	0	0	0	0	1	5933	1194	42	2		2	FLNA	23	153577241	Silent	SNP	G	TCGA-BR-4368-01A-01D-1158-08	528691	153577241	1693319	1641	22235											
VAMP7	6845	broad.mit.edu	37	chrX	155119136	155119136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatagactgaagccatggcgAttctttttgctgttgttgcc	11	8	1	2			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:155119136A>G	uc004fnr.2	+	2	181	c.7A>G	c.(7-9)ATT>GTT	p.I3V	VAMP7_uc004fnt.2_Missense_Mutation_p.I3V|VAMP7_uc011naa.1_5'UTR|VAMP7_uc011nab.1_5'UTR|VAMP7_uc004fns.2_Missense_Mutation_p.I3V|VAMP7_uc011nac.1_5'UTR	NM_005638	NP_005629	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7 isoform 1	3	Cytoplasmic (Potential).				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCCATGGCGATTCTTTTTGC	0.398													G	155119136	A	G	155119136	3	3	23	1	0	0	0	0	1	0	0	0	17114	333	12	3	9	3	VAMP7	23	155119136	Missense_Mutation	SNP	A	TCGA-BR-4368-01A-01D-1158-08	1541895	155119136	151424	1642	22236											
AKR7A2	8574	broad.mit.edu	37	chr1	19632583	19632583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggcgctggcgccatatgCggcctgcagggccttctcca	16	14	1	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:19632583C>T	uc001bbw.2	-	6	869	c.847G>A	c.(847-849)GCA>ACA	p.A283T	AKR7A2_uc001bbx.2_Missense_Mutation_p.A248T	NM_003689	NP_003680	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2	283					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCGCCATATGCGGCCTGCAGG	0.632													T	19632583	C	T	19632583	3	4	24	1	0	0	0	0	1	0	0	0	475	768	27	1	240	1	AKR7A2	1	19632583	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08		19632583	229618038	1	22237											
SLC9A1	6548	broad.mit.edu	37	chr1	27434258	27434258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgagggtctcgctgacgCtgctccacatcttcaggaag	12	11	3	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:27434258C>T	uc001bnm.2	-	4	1789	c.1163G>A	c.(1162-1164)AGC>AAC	p.S388N	SLC9A1_uc010ofk.1_Missense_Mutation_p.S49N|SLC9A1_uc001bnn.2_Missense_Mutation_p.S388N	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	388					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CTCGCTGACGCTGCTCCACAT	0.582													T	27434258	C	T	27434258	3	4	24	1	0	0	0	0	1	0	0	0	14709	797	28	2	1320	2	SLC9A1	1	27434258	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	7801675	27434258	221816363	2	22238											
RBBP4	5928	broad.mit.edu	37	chr1	33134400	33134400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcagaaggaaggctatgGgctttcttggaacccaaatc	10	9	2	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:33134400G>A	uc001bvr.2	+	5	704	c.545G>A	c.(544-546)GGG>GAG	p.G182E	RBBP4_uc001bvs.2_Missense_Mutation_p.G181E|RBBP4_uc010ohj.1_5'UTR|RBBP4_uc010ohk.1_Missense_Mutation_p.G147E	NM_005610	NP_005601	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4 isoform a	182	WD 2.				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GAAGGCTATGGGCTTTCTTGG	0.488													A	33134400	G	A	33134400	3	1	24	1	0	0	0	0	1	0	0	0	13101	1232	43	4	563	4	RBBP4	1	33134400	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	5700142	33134400	216116221	3	22239											
RLF	6018	broad.mit.edu	37	chr1	40703533	40703533	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccatttgtgcttctaaaagGccctgtacagaggataccat	8	10	1	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:40703533G>T	uc001cfc.3	+	8	3190	c.3159G>T	c.(3157-3159)AGG>AGT	p.R1053S	RLF_uc001cfd.3_Missense_Mutation_p.R744S	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1053					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CTTCTAAAAGGCCCTGTACAG	0.398													T	40703533	G	T	40703533	3	4	24	1	0	0	0	0	1	0	0	0	13389	1194	42	5	3189	5	RLF	1	40703533	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	7569133	40703533	208547088	4	22240											
SLFNL1	200172	broad.mit.edu	37	chr1	41483646	41483646	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagagctggtccttgcccacGatctgctggtgcacaatggc	12	12	1	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:41483646G>A	uc001cgm.1	-	3	838	c.618C>T	c.(616-618)ATC>ATT	p.I206I	SLFNL1_uc009vwf.1_Silent_p.I206I|SLFNL1_uc001cgn.1_Silent_p.I147I|SLFNL1_uc009vwg.1_Silent_p.I206I	NM_144990	NP_659427	Q499Z3	SLNL1_HUMAN	schlafen-like 1	206							ATP binding			skin(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CCTTGCCCACGATCTGCTGGT	0.657													A	41483646	G	A	41483646	2	1	24	1	0	0	0	0	0	0	0	1	14738	1048	37	1		1	SLFNL1	1	41483646	Silent	SNP	G	TCGA-BR-4369-01A-01D-1158-08	780113	41483646	207766975	5	22241											
PIK3R3	8503	broad.mit.edu	37	chr1	46597556	46597556	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atataaaatatcagttctgtCgaatagggcatcatcacctc	6	9	4	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:46597556C>T	uc001cpb.3	-	1	825	c.69G>A	c.(67-69)TCG>TCA	p.S23S	PIK3R3_uc009vyb.2_Silent_p.S23S|PIK3R3_uc009vyc.2_Silent_p.S40S|PIK3R3_uc001cpc.3_Silent_p.S23S|PIK3R3_uc010olw.1_Intron	NM_003629	NP_003620	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3	23					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					TCAGTTCTGTCGAATAGGGCA	0.463													T	46597556	C	T	46597556	2	4	24	1	0	0	0	0	0	0	0	1	11920	871	31	1		1	PIK3R3	1	46597556	Silent	SNP	C	TCGA-BR-4369-01A-01D-1158-08	5113910	46597556	202653065	6	22242											
WDR78	79819	broad.mit.edu	37	chr1	67356850	67356850	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcattacctgtgaaactagtCaatctttcccgtttatagga	6	9	3	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:67356850C>T	uc001dcx.2	-	4	686	c.630G>A	c.(628-630)TTG>TTA	p.L210L	WDR78_uc001dcy.2_Silent_p.L210L|WDR78_uc001dcz.2_Silent_p.L210L|WDR78_uc009wax.2_5'Flank	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	210										ovary(2)	2						TGAAACTAGTCAATCTTTCCC	0.343													T	67356850	C	T	67356850	2	4	24	1	0	0	0	0	0	0	0	1	17325	825	29	4		4	WDR78	1	67356850	Silent	SNP	C	TCGA-BR-4369-01A-01D-1158-08	20759294	67356850	181893771	7	22243											
SLC35D1	23169	broad.mit.edu	37	chr1	67512967	67512967	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttgaatctaatttttgtTttacgtatgcaccatttgct	5	7	1	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:67512967T>G	uc001ddk.2	-	7	1001	c.617A>C	c.(616-618)AAA>ACA	p.K206T	SLC35D1_uc010oph.1_Missense_Mutation_p.K127T	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-glucuronic	206					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity				0					Lorazepam(DB00186)	TAATTTTTGTTTTACGTATGC	0.353													G	67512967	T	G	67512967	3	3	24	1	0	0	0	0	1	0	0	0	14581	1841	64	5	474	5	SLC35D1	1	67512967	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	156117	67512967	181737654	8	22244											
COL24A1	255631	broad.mit.edu	37	chr1	86355275	86355275	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtcctctgtcacctgtacTtccaggcaatccctgtaaac	6	14	2	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:86355275T>G	uc001dlj.2	-	32	2986	c.2944A>C	c.(2944-2946)AGT>CGT	p.S982R	COL24A1_uc001dli.2_Missense_Mutation_p.S118R|COL24A1_uc010osd.1_Missense_Mutation_p.S282R|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	982	Collagen-like 8.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCACCTGTACTTCCAGGCAAT	0.373													G	86355275	T	G	86355275	3	3	24	1	0	0	0	0	1	0	0	0	3683	1609	56	5	2316	5	COL24A1	1	86355275	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	18842308	86355275	162895346	9	22245											
HFM1	164045	broad.mit.edu	37	chr1	91850767	91850767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttctgtgacagccttcaagGaacctaaaccattttctgtt	6	10	3	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:91850767G>A	uc001doa.3	-	6	879	c.779C>T	c.(778-780)TCC>TTC	p.S260F	HFM1_uc010osu.1_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.S260F	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	260							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AGCCTTCAAGGAACCTAAACC	0.254													A	91850767	G	A	91850767	3	1	24	1	0	0	0	0	1	0	0	0	7083	1174	41	4	3664	4	HFM1	1	91850767	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	5495492	91850767	157399854	10	22246											
AP4B1	10717	broad.mit.edu	37	chr1	114437899	114437899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacccagccctactcattgCgatggtctggatgttcacta	9	12	3	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:114437899C>T	uc001eeb.2	-	10	2151	c.2008G>A	c.(2008-2010)GCA>ACA	p.A670T	uc001edv.1_Intron|AP4B1_uc001eec.2_Missense_Mutation_p.A502T|AP4B1_uc001eed.2_Missense_Mutation_p.A670T|AP4B1_uc010owp.1_Missense_Mutation_p.A571T|AP4B1_uc001eea.1_3'UTR|AP4B1_uc001eee.1_3'UTR	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1	670					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			ovary(3)|central_nervous_system(1)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTACTCATTGCGATGGTCTGG	0.502													T	114437899	C	T	114437899	3	4	24	1	0	0	0	0	1	0	0	0	751	768	27	1	215	1	AP4B1	1	114437899	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	22587132	114437899	134812722	11	22247											
TDRD10	126668	broad.mit.edu	37	chr1	154516536	154516536	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaggcggggctgctggtgAcgagtatcgtcccgaagacc	18	10	0	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:154516536A>G	uc009wow.2	+	9	1439	c.601A>G	c.(601-603)ACG>GCG	p.T201A	TDRD10_uc001ffd.2_Missense_Mutation_p.T201A|TDRD10_uc001ffe.2_Missense_Mutation_p.T122A	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	tudor domain containing 10 isoform a	201							nucleotide binding|RNA binding			ovary(1)	1	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTGCTGGTGACGAGTATCGT	0.622													G	154516536	A	G	154516536	3	3	24	1	0	0	0	0	1	0	0	0	15728	275	10	3	631	3	TDRD10	1	154516536	Missense_Mutation	SNP	A	TCGA-BR-4369-01A-01D-1158-08	40078637	154516536	94734085	12	22248											
CD1E	913	broad.mit.edu	37	chr1	158324409	158324409	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcactgttccagttatacTtccatagttttatccagata	5	9	1	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:158324409T>G	uc001fse.2	+	2	540	c.301T>G	c.(301-303)TTC>GTC	p.F101V	CD1E_uc010pid.1_Missense_Mutation_p.F99V|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Missense_Mutation_p.F101V|CD1E_uc001fsk.2_Missense_Mutation_p.F101V|CD1E_uc001fsj.2_Missense_Mutation_p.F101V|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.F101V|CD1E_uc001fry.2_Missense_Mutation_p.F101V|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Missense_Mutation_p.F101V|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Missense_Mutation_p.F101V|CD1E_uc009wsw.2_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	101					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					CCAGTTATACTTCCATAGTTT	0.453													G	158324409	T	G	158324409	3	3	24	1	0	0	0	0	1	0	0	0	2978	1609	56	5	307	5	CD1E	1	158324409	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	3807873	158324409	90926212	13	22249											
OR10Z1	128368	broad.mit.edu	37	chr1	158576892	158576892	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcctacgcctacatcTtggcagcaatactgaggatc	7	14	2	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:158576892T>C	uc010pio.1	+	1	664	c.664T>C	c.(664-666)TTG>CTG	p.L222L		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	222	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					CGCCTACATCTTGGCAGCAAT	0.512													C	158576892	T	C	158576892	2	2	24	1	0	0	0	0	0	0	0	1	10923	1606	56	3		3	OR10Z1	1	158576892	Silent	SNP	T	TCGA-BR-4369-01A-01D-1158-08	252483	158576892	90673729	14	22250											
SPTA1	6708	broad.mit.edu	37	chr1	158590118	158590118	+	Frame_Shift_Del	DEL	C	C	-													agccagggaggccaagaagtCctcatggtctttctgcagct							TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:158590117_158590117TC>T	uc001fst.1	-	43	6459	c.6260_6260GA>A	c.(6259-6261)gacfs	p.D2087fs		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2087					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGCCAAGAAGTCCTCATGGTC	0.493													-	158590118	C	-	158590118	7	5	24	1	0	1	0	1	0	0	0	0	15115	855	30	0	1036	0	SPTA1	1	158590118	Frame_Shift_Del	DEL	C	TCGA-BR-4369-01A-01D-1158-08	13226	158590118	90660503	15	22251											
SPTA1	6708	broad.mit.edu	37	chr1	158606534	158606534	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccatagtcctgggagctcActcgtatcaacttctcccta	6	15	3	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:158606534A>C	uc001fst.1	-	37	5406	c.5207T>G	c.(5206-5208)GTG>GGG	p.V1736G		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1736	Spectrin 17.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CTGGGAGCTCACTCGTATCAA	0.473													C	158606534	A	C	158606534	3	2	24	1	0	0	0	0	1	0	0	0	15115	159	6	5	2116	5	SPTA1	1	158606534	Missense_Mutation	SNP	A	TCGA-BR-4369-01A-01D-1158-08	16416	158606534	90644087	16	22252											
CADM3	57863	broad.mit.edu	37	chr1	159169651	159169651	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttccttggccactacTtgatccggcacaaaggtcag	8	13	3	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:159169651T>G	uc001ftl.2	+	8	1205	c.1063T>G	c.(1063-1065)TTG>GTG	p.L355V	CADM3_uc001ftk.2_Missense_Mutation_p.L389V|uc001ftm.1_Splice_Site	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	355	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					TGGCCACTACTTGATCCGGCA	0.567													G	159169651	T	G	159169651	3	3	24	1	0	0	0	0	1	0	0	0	2568	1606	56	5	1199	5	CADM3	1	159169651	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	563117	159169651	90080970	17	22253											
FCRLA	84824	broad.mit.edu	37	chr1	161682977	161682977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgggcctctgcctccgcCgccaaccccatcttctgagg	9	20	3	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:161682977C>T	uc001gbe.2	+	6	1198	c.956C>T	c.(955-957)CCG>CTG	p.P319L	FCRLA_uc001gbd.2_Missense_Mutation_p.P313L|FCRLA_uc001gbf.2_Missense_Mutation_p.P224L|FCRLA_uc001gbg.2_Missense_Mutation_p.P173L|FCRLA_uc009wuo.2_Missense_Mutation_p.P179L|FCRLA_uc009wup.2_Missense_Mutation_p.P129L|FCRLA_uc009wuq.2_Missense_Mutation_p.P78L	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	296	Pro-rich.				cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGCCTCCGCCGCCAACCCCA	0.572													T	161682977	C	T	161682977	3	4	24	1	0	0	0	0	1	0	0	0	5800	652	23	1	978	1	FCRLA	1	161682977	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	2513326	161682977	87567644	18	22254											
PIGC	5279	broad.mit.edu	37	chr1	172411186	172411186	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcatgcagggaccggggaaGacgtgatgccaagcatacag	16	9	0	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:172411186G>A	uc001gil.2	-	2	858	c.577C>T	c.(577-579)CTT>TTT	p.L193F	PIGC_uc001gii.1_Intron|PIGC_uc001gij.1_Intron|C1orf105_uc001gik.2_Intron|PIGC_uc001gin.2_Missense_Mutation_p.L193F|PIGC_uc001gio.2_Missense_Mutation_p.L193F	NM_153747	NP_714969	Q92535	PIGC_HUMAN	phosphatidylinositol glycan, class C	193					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			lung(1)	1						GACCGGGGAAGACGTGATGCC	0.483													A	172411186	G	A	172411186	3	1	24	1	0	0	0	0	1	0	0	0	11886	942	33	4	320	4	PIGC	1	172411186	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	10728209	172411186	76839435	19	22255											
TNFSF18	8995	broad.mit.edu	37	chr1	173010835	173010835	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagaagatgccatttgcCattttgagggtaatggtcct	11	7	1	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:173010835C>T	uc001giu.2	-	3	273	c.272G>A	c.(271-273)TGG>TAG	p.W91*		NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily,	91	Extracellular (Potential).				anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)	1						TGCCATTTGCCATTTTGAGGG	0.348													T	173010835	C	T	173010835	4	4	24	1	0	0	0	0	0	1	0	0	16306	595	21	4	331	4	TNFSF18	1	173010835	Nonsense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	599649	173010835	76239786	20	22256											
CR2	1380	broad.mit.edu	37	chr1	207640231	207640231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaaataatatgtgggggcCgacacgactaccaacctgtg	11	10	0	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:207640231C>T	uc001hfw.2	+	2	513	c.419C>T	c.(418-420)CCG>CTG	p.P140L	CR2_uc001hfv.2_Missense_Mutation_p.P140L|CR2_uc009xch.2_Missense_Mutation_p.P140L	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	140	Sushi 2.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						ATGTGGGGGCCGACACGACTA	0.478													T	207640231	C	T	207640231	3	4	24	1	0	0	0	0	1	0	0	0	3842	652	23	1	425	1	CR2	1	207640231	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	34629396	207640231	41610390	21	22257											
CENPF	1063	broad.mit.edu	37	chr1	214814102	214814102	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attggagaacaaggaagcatGccttcagagaggagtgaatg	14	5	1	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:214814102G>T	uc001hkm.2	+	12	2595	c.2421G>T	c.(2419-2421)ATG>ATT	p.M807I		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	807					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGGAAGCATGCCTTCAGAGA	0.393													T	214814102	G	T	214814102	3	4	24	1	0	0	0	0	1	0	0	0	3231	1319	46	5	2463	5	CENPF	1	214814102	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	7173871	214814102	34436519	22	22258											
ESRRG	2104	broad.mit.edu	37	chr1	216692753	216692753	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctggtccgccagggacagCgtggagaagcctgcatggaa	15	10	1	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:216692753C>T	uc001hkw.1	-	6	1039	c.873G>A	c.(871-873)ACG>ACA	p.T291T	ESRRG_uc001hky.1_Silent_p.T268T|ESRRG_uc009xdp.1_Silent_p.T268T|ESRRG_uc001hkz.1_Silent_p.T229T|ESRRG_uc010puc.1_Silent_p.T268T|ESRRG_uc001hla.1_Silent_p.T268T|ESRRG_uc001hlb.1_Silent_p.T268T|ESRRG_uc010pud.1_Silent_p.T99T|ESRRG_uc001hlc.1_Silent_p.T268T|ESRRG_uc001hld.1_Silent_p.T268T|ESRRG_uc001hkx.1_Silent_p.T303T|ESRRG_uc009xdo.1_Silent_p.T268T|ESRRG_uc001hle.1_Silent_p.T268T	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	291					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CCAGGGACAGCGTGGAGAAGC	0.453													T	216692753	C	T	216692753	2	4	24	1	0	0	0	0	0	0	0	1	5262	755	27	1		1	ESRRG	1	216692753	Silent	SNP	C	TCGA-BR-4369-01A-01D-1158-08	1878651	216692753	32557868	23	22259											
EPRS	2058	broad.mit.edu	37	chr1	220193402	220193402	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcactgtgttgttgagatttAgccgactatattcccaaata	8	8	0	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:220193402A>T	uc001hly.1	-	10	1547	c.1277T>A	c.(1276-1278)CTA>CAA	p.L426Q	EPRS_uc010puf.1_Missense_Mutation_p.L177Q|EPRS_uc001hlz.1_Missense_Mutation_p.L426Q|EPRS_uc009xdt.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	426	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	GTTGAGATTTAGCCGACTATA	0.363													T	220193402	A	T	220193402	3	4	24	1	0	0	0	0	1	0	0	0	5191	420	15	5	3353	5	EPRS	1	220193402	Missense_Mutation	SNP	A	TCGA-BR-4369-01A-01D-1158-08	3500649	220193402	29057219	24	22260											
KIAA1804	84451	broad.mit.edu	37	chr1	233498012	233498012	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaagtcgtttaaagctcaaaGatggacatcgaatcagttta	9	6	2	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:233498012G>A	uc001hvt.3	+	5	1786	c.1525G>A	c.(1525-1527)GAT>AAT	p.D509N	KIAA1804_uc001hvs.1_Missense_Mutation_p.D509N	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	509					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				AAAGCTCAAAGATGGACATCG	0.378													A	233498012	G	A	233498012	3	1	24	1	0	0	0	0	1	0	0	0	8259	942	33	4	1543	4	KIAA1804	1	233498012	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	13304610	233498012	15752609	25	22261											
AHCTF1	25909	broad.mit.edu	37	chr1	247054343	247054343	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgggaaaccacaaacttAttgcttaagtctatcagtcc	8	9	2	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:247054343A>G	uc001ibu.1	-	15	1972	c.1965T>C	c.(1963-1965)AAT>AAC	p.N655N	AHCTF1_uc001ibv.1_Silent_p.N664N|AHCTF1_uc009xgs.1_5'UTR	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	655	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CCACAAACTTATTGCTTAAGT	0.353													G	247054343	A	G	247054343	2	3	24	1	0	0	0	0	0	0	0	1	408	446	16	3		3	AHCTF1	1	247054343	Silent	SNP	A	TCGA-BR-4369-01A-01D-1158-08	13556331	247054343	2196278	26	22262											
ZNF670	93474	broad.mit.edu	37	chr1	247201286	247201286	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagttctttcatgttcacgaAgataacttgaataattgaag	8	5	3	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:247201286A>C	uc001icd.1	-	4	806	c.635T>G	c.(634-636)CTT>CGT	p.L212R	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	zinc finger protein 670	212	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			ATGTTCACGAAGATAACTTGA	0.348													C	247201286	A	C	247201286	3	2	24	1	0	0	0	0	1	0	0	0	18074	72	3	5	538	5	ZNF670	1	247201286	Missense_Mutation	SNP	A	TCGA-BR-4369-01A-01D-1158-08	146943	247201286	2049335	27	22263											
OR2L3	391192	broad.mit.edu	37	chr1	248224727	248224727	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccacctcactgtagtaacTttctactatgcaccttttgt	4	13	2	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:248224727T>C	uc001idx.1	+	1	744	c.744T>C	c.(742-744)ACT>ACC	p.T248T	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	248	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTGTAGTAACTTTCTACTATG	0.502													C	248224727	T	C	248224727	2	2	24	1	0	0	0	0	0	0	0	1	11008	1596	56	3		3	OR2L3	1	248224727	Silent	SNP	T	TCGA-BR-4369-01A-01D-1158-08	1023441	248224727	1025894	28	22264											
SNTG2	54221	broad.mit.edu	37	chr2	1271173	1271173	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actgctggttgcaagcaaacTtgtatctgggtcttcaagat	10	8	3	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:1271173T>A	uc002qwq.2	+	14	1242	c.1114T>A	c.(1114-1116)TTG>ATG	p.L372M	SNTG2_uc010ewi.2_Missense_Mutation_p.L245M	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	372	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCAAGCAAACTTGTATCTGGG	0.522													A	1271173	T	A	1271173	3	1	24	1	0	0	0	0	1	0	0	0	14875	1606	56	5	1168	5	SNTG2	2	1271173	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08		1271173	241928200	29	22265											
PAPOLG	64895	broad.mit.edu	37	chr2	61021178	61021178	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccgtagtaggacgaaatgTcattcctagaatcacaacac	7	10	2	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:61021178T>C	uc002sai.2	+	19	2072	c.1841T>C	c.(1840-1842)GTC>GCC	p.V614A	PAPOLG_uc002saj.2_Missense_Mutation_p.V303A|PAPOLG_uc002sak.2_Missense_Mutation_p.V149A|PAPOLG_uc010fch.2_Missense_Mutation_p.V303A	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	614					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			GGACGAAATGTCATTCCTAGA	0.408													C	61021178	T	C	61021178	3	2	24	1	0	0	0	0	1	0	0	0	11431	1667	58	3	1915	3	PAPOLG	2	61021178	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	59750005	61021178	182178195	30	22266											
PROKR1	10887	broad.mit.edu	37	chr2	68882442	68882442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctacggcttcaccatcGtgcgcgacttcttccccacc	6	19	3	0	rs143892402	byFrequency	TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:68882442G>A	uc010yqj.1	+	2	916	c.916G>A	c.(916-918)GTG>ATG	p.V306M	PROKR1_uc002ses.2_RNA	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	306	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1						CTTCACCATCGTGCGCGACTT	0.587													A	68882442	G	A	68882442	3	1	24	1	0	0	0	0	1	0	0	0	12552	1145	40	1	922	1	PROKR1	2	68882442	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	7861264	68882442	174316931	31	22267											
REG3G	130120	broad.mit.edu	37	chr2	79255020	79255020	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaatccctccaccatcTtaaaccctggccactgtggg	7	14	1	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:79255020T>G	uc002snw.2	+	5	506	c.421T>G	c.(421-423)TTA>GTA	p.L141V	REG3G_uc002snx.2_Missense_Mutation_p.L141V|REG3G_uc010ffu.2_Missense_Mutation_p.L95V	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma precursor	141	C-type lectin.				acute-phase response	extracellular region	sugar binding				0						CTCCACCATCTTAAACCCTGG	0.498													G	79255020	T	G	79255020	3	3	24	1	0	0	0	0	1	0	0	0	13213	1606	56	5	435	5	REG3G	2	79255020	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	10372578	79255020	163944353	32	22268											
EIF2AK3	9451	broad.mit.edu	37	chr2	88889965	88889965	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatacatttactcacccaaGtaaacactgttttctgtggc	6	10	2	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:88889965G>A	uc002stc.3	-	6	1363	c.1161C>T	c.(1159-1161)TAC>TAT	p.Y387Y		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	387	Lumenal (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ACTCACCCAAGTAAACACTGT	0.358													A	88889965	G	A	88889965	2	1	24	1	0	0	0	0	0	0	0	1	4998	1024	36	4		4	EIF2AK3	2	88889965	Silent	SNP	G	TCGA-BR-4369-01A-01D-1158-08	9634945	88889965	154309408	33	22269											
TEKT4	150483	broad.mit.edu	37	chr2	95540714	95540714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaggagctggaggacgcgCggtacaagctgcatcaccac	15	11	1	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:95540714C>T	uc002stw.1	+	4	1000	c.907C>T	c.(907-909)CGG>TGG	p.R303W	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	303					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3						GGAGGACGCGCGGTACAAGCT	0.667													T	95540714	C	T	95540714	3	4	24	1	0	0	0	0	1	0	0	0	15752	759	27	1	921	1	TEKT4	2	95540714	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	6650749	95540714	147658659	34	22270											
RNF149	284996	broad.mit.edu	37	chr2	101893708	101893708	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgggcacgtgtgctaggagaTgggtcctccatgccgagagt	16	9	0	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:101893708T>A	uc002taz.1	-	7	1297	c.1195A>T	c.(1195-1197)ATC>TTC	p.I399F	RNF149_uc002tax.1_Intron	NM_173647	NP_775918	Q8NC42	RN149_HUMAN	ring finger protein 149 precursor	399						integral to membrane	ligase activity|zinc ion binding			ovary(1)|breast(1)	2						TGCTAGGAGATGGGTCCTCCA	0.448													A	101893708	T	A	101893708	3	1	24	1	0	0	0	0	1	0	0	0	13450	1464	51	5	11	5	RNF149	2	101893708	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	6352994	101893708	141305665	35	22271											
ERCC3	2071	broad.mit.edu	37	chr2	128051203	128051203	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccacctgcttccccgccgcCgagggaaccgcttcctgagg	11	18	0	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:128051203C>A	uc002toh.1	-	2	215	c.120G>T	c.(118-120)TCG>TCT	p.S40S	ERCC3_uc002toe.1_5'Flank|ERCC3_uc002tof.1_5'UTR|ERCC3_uc002tog.1_5'UTR|ERCC3_uc010flx.1_5'UTR|ERCC3_uc010yzh.1_RNA|ERCC3_uc010fly.2_Silent_p.S40S	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	40					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCCCCGCCGCCGAGGGAACCG	0.567			Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				A	128051203	C	A	128051203	2	1	24	1	0	0	0	0	0	0	0	1	5214	639	23	5		5	ERCC3	2	128051203	Silent	SNP	C	TCGA-BR-4369-01A-01D-1158-08	26157495	128051203	115148170	36	22272											
NCKAP5	344148	broad.mit.edu	37	chr2	133539979	133539979	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttcttcgattgtgggtgAgaggggggcttctgaactca	14	7	3	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:133539979A>G	uc002ttp.2	-	14	4779	c.4405T>C	c.(4405-4407)TCA>CCA	p.S1469P	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1469							protein binding				0						ATTGTGGGTGAGAGGGGGGCT	0.493													G	133539979	A	G	133539979	3	3	24	1	0	0	0	0	1	0	0	0	10223	304	11	3	1352	3	NCKAP5	2	133539979	Missense_Mutation	SNP	A	TCGA-BR-4369-01A-01D-1158-08	5488776	133539979	109659394	37	22273											
CCNT2	905	broad.mit.edu	37	chr2	135711860	135711860	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gagcagtgatggcatttcctCtagctccagctcttcaagga	10	11	3	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:135711860C>G	uc002tuc.1	+	9	1867	c.1835C>G	c.(1834-1836)TCT>TGT	p.S612C	CCNT2_uc002tub.1_Missense_Mutation_p.S612C|CCNT2_uc010zbf.1_Missense_Mutation_p.S437C|CCNT2_uc002tud.1_Missense_Mutation_p.S275C	NM_058241	NP_490595	O60583	CCNT2_HUMAN	cyclin T2 isoform b	612	Poly-Ser.				cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			ovary(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.107)		GGCATTTCCTCTAGCTCCAGC	0.502													G	135711860	C	G	135711860	3	3	24	1	0	0	0	0	1	0	0	0	2935	913	32	5	1869	5	CCNT2	2	135711860	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	2171881	135711860	107487513	38	22274											
THSD7B	80731	broad.mit.edu	37	chr2	138373777	138373777	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacacaatgcagagaagaacTcgccacctgctaagaccatc	7	14	0	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:138373777T>G	uc002tva.1	+	17	3369	c.3369T>G	c.(3367-3369)ACT>ACG	p.T1123T	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGAGAAGAACTCGCCACCTGC	0.423													G	138373777	T	G	138373777	2	3	24	1	0	0	0	0	0	0	0	1	15877	1538	54	5		5	THSD7B	2	138373777	Silent	SNP	T	TCGA-BR-4369-01A-01D-1158-08	2661917	138373777	104825596	39	22275											
SCN3A	6328	broad.mit.edu	37	chr2	165984255	165984255	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgaggctggggttgtttatGaatgacatataatcattttc	11	4	1	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:165984255G>A	uc002ucx.2	-	18	3771	c.3279C>T	c.(3277-3279)TTC>TTT	p.F1093F	SCN3A_uc002ucy.2_Silent_p.F1044F|SCN3A_uc002ucz.2_Silent_p.F1044F|SCN3A_uc002uda.1_Silent_p.F913F|SCN3A_uc002udb.1_Silent_p.F913F	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1093						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	GGTTGTTTATGAATGACATAT	0.403													A	165984255	G	A	165984255	2	1	24	1	0	0	0	0	0	0	0	1	13918	1281	45	4		4	SCN3A	2	165984255	Silent	SNP	G	TCGA-BR-4369-01A-01D-1158-08	27610478	165984255	77215118	40	22276											
GAD1	2571	broad.mit.edu	37	chr2	171687621	171687621	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggcatggagggcttcaacTtggagctctctgaccacccc	11	13	2	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:171687621T>G	uc002ugi.2	+	5	888	c.466T>G	c.(466-468)TTG>GTG	p.L156V	GAD1_uc002ugh.2_Missense_Mutation_p.L156V	NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	156					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGGCTTCAACTTGGAGCTCTC	0.542													G	171687621	T	G	171687621	3	3	24	1	0	0	0	0	1	0	0	0	6179	1606	56	5	480	5	GAD1	2	171687621	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	5703366	171687621	71511752	41	22277											
GPR155	151556	broad.mit.edu	37	chr2	175335232	175335232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatggttcaccacactgtcGcccttgtccaagagttccac	8	14	1	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:175335232G>A	uc002uit.2	-	5	1303	c.912C>T	c.(910-912)GGC>GGT	p.G304G	GPR155_uc002uiu.2_Silent_p.G304G|GPR155_uc002uiv.2_Silent_p.G304G|GPR155_uc010fqs.2_Silent_p.G304G	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155 isoform 9	304					intracellular signal transduction|transmembrane transport	integral to membrane				ovary(1)	1						CCACACTGTCGCCCTTGTCCA	0.408													A	175335232	G	A	175335232	2	1	24	1	0	0	0	0	0	0	0	1	6660	1074	38	1		1	GPR155	2	175335232	Silent	SNP	G	TCGA-BR-4369-01A-01D-1158-08	3647611	175335232	67864141	42	22278											
PRKRA	8575	broad.mit.edu	37	chr2	179301024	179301024	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggaatgccaagtacatcctAaagaatgtcctactacattt	6	9	0	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:179301024A>T	uc002umf.2	-	7	833	c.632T>A	c.(631-633)TTA>TAA	p.L211*	PRKRA_uc002umc.2_Nonsense_Mutation_p.L43*|PRKRA_uc002umd.2_Nonsense_Mutation_p.L186*|PRKRA_uc002ume.2_Nonsense_Mutation_p.L200*|PRKRA_uc002umg.2_Nonsense_Mutation_p.L98*|PRKRA_uc002umh.1_5'Flank	NM_003690	NP_003681	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double	211	Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			AGTACATCCTAAAGAATGTCC	0.388													T	179301024	A	T	179301024	4	4	24	1	0	0	0	0	0	1	0	0	12524	372	13	5	317	5	PRKRA	2	179301024	Nonsense_Mutation	SNP	A	TCGA-BR-4369-01A-01D-1158-08	3965792	179301024	63898349	43	22279											
ORMDL1	94101	broad.mit.edu	37	chr2	190636564	190636564	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggaattagtacactcaggaGagaagctgtgtttaggatga	14	4	1	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:190636564G>A	uc002urb.3	-	3	1178	c.391C>T	c.(391-393)CTC>TTC	p.L131F	ORMDL1_uc002urc.3_Missense_Mutation_p.L131F|ORMDL1_uc002urd.3_Missense_Mutation_p.L131F|ORMDL1_uc002ure.3_Missense_Mutation_p.L131F	NM_016467	NP_057551	Q9P0S3	ORML1_HUMAN	ORM1-like 1	131					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			ACACTCAGGAGAGAAGCTGTG	0.318													A	190636564	G	A	190636564	3	1	24	1	0	0	0	0	1	0	0	0	11269	942	33	4	74	4	ORMDL1	2	190636564	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	11335540	190636564	52562809	44	22280											
NDUFS1	4719	broad.mit.edu	37	chr2	207014614	207014614	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gacaacctttcatgataacaGaatcgagggatctgcatgcc	9	10	2	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:207014614G>T	uc002vbe.2	-	4	316	c.189C>A	c.(187-189)TTC>TTA	p.F63L	NDUFS1_uc010ziq.1_Missense_Mutation_p.F77L|NDUFS1_uc010zir.1_Intron|NDUFS1_uc010zis.1_Missense_Mutation_p.F6L|NDUFS1_uc010zit.1_Intron|NDUFS1_uc010ziu.1_Intron	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	63	2Fe-2S ferredoxin-type.				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	CATGATAACAGAATCGAGGGA	0.368													T	207014614	G	T	207014614	3	4	24	1	0	0	0	0	1	0	0	0	10291	933	33	5	2058	5	NDUFS1	2	207014614	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	16378050	207014614	36184759	45	22281											
PTH2R	5746	broad.mit.edu	37	chr2	209324631	209324631	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtctcaggtgctgggaacTtagtgctggagacatcaagt	13	7	2	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:209324631T>G	uc002vdb.2	+	9	1139	c.926T>G	c.(925-927)CTT>CGT	p.L309R	PTH2R_uc010zjb.1_Missense_Mutation_p.L320R	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	309	Extracellular (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TGCTGGGAACTTAGTGCTGGA	0.338													G	209324631	T	G	209324631	3	3	24	1	0	0	0	0	1	0	0	0	12760	1609	56	5	960	5	PTH2R	2	209324631	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	2310017	209324631	33874742	46	22282											
CPS1	1373	broad.mit.edu	37	chr2	211512654	211512654	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggcagttcctctatacaAgaatggtgtcaagatcatgg	10	9	3	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:211512654A>G	uc002vee.3	+	26	3341	c.3209A>G	c.(3208-3210)AAG>AGG	p.K1070R	CPS1_uc010fur.2_Missense_Mutation_p.K1076R|CPS1_uc010fus.2_Missense_Mutation_p.K619R	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	1070					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CCTCTATACAAGAATGGTGTC	0.507													G	211512654	A	G	211512654	3	3	24	1	0	0	0	0	1	0	0	0	3823	72	3	3	3333	3	CPS1	2	211512654	Missense_Mutation	SNP	A	TCGA-BR-4369-01A-01D-1158-08	2188023	211512654	31686719	47	22283											
SPEG	10290	broad.mit.edu	37	chr2	220315878	220315878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcttcggatgactcctacGtgtccgctggagaagagccc	12	12	1	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:220315878G>A	uc010fwg.2	+	5	2134	c.2134G>A	c.(2134-2136)GTG>ATG	p.V712M	SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Translation_Start_Site|SPEG_uc002vln.1_Translation_Start_Site|SPEG_uc002vlp.1_Translation_Start_Site	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	712					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.V712_P722del(1)		stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGACTCCTACGTGTCCGCTGG	0.592													A	220315878	G	A	220315878	3	1	24	1	0	0	0	0	1	0	0	0	15035	1145	40	1	2152	1	SPEG	2	220315878	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	8803224	220315878	22883495	48	22284											
SPHKAP	80309	broad.mit.edu	37	chr2	228882722	228882722	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgttttccactggagttgtCaaggcaaatcgctgcaattt	9	8	1	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:228882722C>G	uc002vpq.2	-	7	2895	c.2848G>C	c.(2848-2850)GAC>CAC	p.D950H	SPHKAP_uc002vpp.2_Missense_Mutation_p.D950H|SPHKAP_uc010zlx.1_Missense_Mutation_p.D950H	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	950						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGGAGTTGTCAAGGCAAATC	0.468													G	228882722	C	G	228882722	3	3	24	1	0	0	0	0	1	0	0	0	15047	826	29	5	2278	5	SPHKAP	2	228882722	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	8566844	228882722	14316651	49	22285											
CHL1	10752	broad.mit.edu	37	chr3	403458	403458	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagtgctttcttacattgCgagttctttgcttcacctga	7	10	3	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr3:403458C>T	uc003bou.2	+	12	1606	c.1335C>T	c.(1333-1335)TGC>TGT	p.C445C	CHL1_uc003bot.2_Silent_p.C461C|CHL1_uc003bow.1_Silent_p.C445C|CHL1_uc011asi.1_Silent_p.C461C	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	445	Ig-like C2-type 5.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCTTACATTGCGAGTTCTTTG	0.408													T	403458	C	T	403458	2	4	24	1	0	0	0	0	0	0	0	1	3349	776	27	1		1	CHL1	3	403458	Silent	SNP	C	TCGA-BR-4369-01A-01D-1158-08		403458	197618972	50	22286											
SLC6A6	6533	broad.mit.edu	37	chr3	14520637	14520637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgaggacatgattggctatCggcccgggccctggatgaag	15	9	0	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr3:14520637C>T	uc010heg.2	+	20	1786	c.1495C>T	c.(1495-1497)CGG>TGG	p.R499W	SLC6A6_uc003byq.2_Missense_Mutation_p.R499W|SLC6A6_uc003byr.2_RNA	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter	499					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			ovary(1)	1						GATTGGCTATCGGCCCGGGCC	0.532													T	14520637	C	T	14520637	3	4	24	1	0	0	0	0	1	0	0	0	14688	875	31	1	1541	1	SLC6A6	3	14520637	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	14117179	14520637	183501793	51	22287											
OXNAD1	92106	broad.mit.edu	37	chr3	16344234	16344234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agactacacaaatcaatgcgGaactcaagccatacatcacg	6	12	3	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr3:16344234G>A	uc003caw.2	+	8	1220	c.763G>A	c.(763-765)GAA>AAA	p.E255K	OXNAD1_uc003cax.2_Missense_Mutation_p.E255K|OXNAD1_uc011awb.1_Missense_Mutation_p.E273K	NM_138381	NP_612390	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	255							oxidoreductase activity			skin(1)	1						AATCAATGCGGAACTCAAGCC	0.383													A	16344234	G	A	16344234	3	1	24	1	0	0	0	0	1	0	0	0	11333	1175	41	4	785	4	OXNAD1	3	16344234	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	1823597	16344234	181678196	52	22288											
C3orf23	285343	broad.mit.edu	37	chr3	44434444	44434444	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttaaaagatgaactgtctCatcaattgcaactctcagat	6	8	3	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr3:44434444C>A	uc010him.2	+	6	915	c.670C>A	c.(670-672)CAT>AAT	p.H224N	C3orf23_uc003cnd.3_Missense_Mutation_p.H224N|C3orf23_uc003cne.3_Missense_Mutation_p.H80N	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	hypothetical protein LOC285343 isoform 1	224						mitochondrion				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TGAACTGTCTCATCAATTGCA	0.333													A	44434444	C	A	44434444	3	1	24	1	0	0	0	0	1	0	0	0	2216	826	29	5	740	5	C3orf23	3	44434444	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	28090210	44434444	153587986	53	22289											
KLHDC8B	200942	broad.mit.edu	37	chr3	49212502	49212502	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctctcctgcagggtcctgGaccaaattgccccgcagcct	9	18	1	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr3:49212502G>A	uc003cwh.2	+	5	959	c.774G>A	c.(772-774)TGG>TGA	p.W258*	KLHDC8B_uc003cwi.1_3'UTR	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	258	Kelch 6.					cytoplasm					0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGGGTCCTGGACCAAATTGC	0.597													A	49212502	G	A	49212502	4	1	24	1	0	0	0	0	0	1	0	0	8363	1183	41	4	788	4	KLHDC8B	3	49212502	Nonsense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	4778058	49212502	148809928	54	22290											
PDHB	5162	broad.mit.edu	37	chr3	58419403	58419403	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaagcgcctcttcagcagCccggagacctggcagggaga	14	12	2	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr3:58419403C>T	uc003dkf.3	-	2	80	c.51G>A	c.(49-51)GGG>GGA	p.G17G	PDHB_uc003dke.3_5'UTR|PDHB_uc003dkg.3_Intron|PDHB_uc010hnl.2_Intron|PDHB_uc011bff.1_Silent_p.G17G	NM_000925	NP_000916	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	17					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	NADH(DB00157)|Pyruvic acid(DB00119)	TCTTCAGCAGCCCGGAGACCT	0.706													T	58419403	C	T	58419403	2	4	24	1	0	0	0	0	0	0	0	1	11666	726	26	2		2	PDHB	3	58419403	Silent	SNP	C	TCGA-BR-4369-01A-01D-1158-08	9206901	58419403	139603027	55	22291											
HTR1F	3355	broad.mit.edu	37	chr3	88040723	88040723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtctgaattcaagcatgAgaaatcttggagaaggcaaa	11	6	3	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr3:88040723A>G	uc003dqr.2	+	2	982	c.824A>G	c.(823-825)GAG>GGG	p.E275G		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	275	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TTCAAGCATGAGAAATCTTGG	0.408													G	88040723	A	G	88040723	3	3	24	1	0	0	0	0	1	0	0	0	7440	304	11	3	826	3	HTR1F	3	88040723	Missense_Mutation	SNP	A	TCGA-BR-4369-01A-01D-1158-08	29621320	88040723	109981707	56	22292											
ARHGAP31	57514	broad.mit.edu	37	chr3	119132796	119132796	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggagctctcatcgttgccaCctcctgctctgaagaccagc	9	15	2	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr3:119132796C>A	uc003ecj.3	+	12	2552	c.2020C>A	c.(2020-2022)CCT>ACT	p.P674T		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	674	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						ATCGTTGCCACCTCCTGCTCT	0.522													A	119132796	C	A	119132796	3	1	24	1	0	0	0	0	1	0	0	0	880	507	18	5	2066	5	ARHGAP31	3	119132796	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	31092073	119132796	78889634	57	22293											
TRH	7200	broad.mit.edu	37	chr3	129694763	129694763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccagcaggaggcagtgaCggccgcggagcatccgggcc	18	14	0	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr3:129694763C>T	uc003enc.2	+	2	665	c.104C>T	c.(103-105)ACG>ATG	p.T35M		NM_007117	NP_009048	P20396	TRH_HUMAN	thyrotropin-releasing hormone	35					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			ovary(1)	1						GAGGCAGTGACGGCCGCGGAG	0.692													T	129694763	C	T	129694763	3	4	24	1	0	0	0	0	1	0	0	0	16475	536	19	1	106	1	TRH	3	129694763	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	10561967	129694763	68327667	58	22294											
CPNE4	131034	broad.mit.edu	37	chr3	131442333	131442333	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caccaaggaagtcggcctccTtcagcccattgtggttgctg	11	13	1	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr3:131442333T>G	uc003eok.2	-	3	752	c.317A>C	c.(316-318)AAG>ACG	p.K106T	CPNE4_uc011blq.1_Missense_Mutation_p.K124T|CPNE4_uc003eol.2_Missense_Mutation_p.K124T|CPNE4_uc003eom.2_Missense_Mutation_p.K106T	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	106	C2 1.									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						GTCGGCCTCCTTCAGCCCATT	0.542													G	131442333	T	G	131442333	3	3	24	1	0	0	0	0	1	0	0	0	3814	1609	56	5	1412	5	CPNE4	3	131442333	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	1747570	131442333	66580097	59	22295											
KCNMB2	10242	broad.mit.edu	37	chr3	178560470	178560470	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atacctaaatgtggaaaaaaTtttgaagaatccatgtccct	6	7	0	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr3:178560470T>G	uc003fjd.2	+	5	796	c.453T>G	c.(451-453)AAT>AAG	p.N151K	uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Missense_Mutation_p.N151K|KCNMB2_uc003fjf.2_Missense_Mutation_p.N151K|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_RNA	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	calcium-activated potassium channel beta 2	151	Extracellular (Potential).				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(1)	1	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			GTGGAAAAAATTTTGAAGAAT	0.403													G	178560470	T	G	178560470	3	3	24	1	0	0	0	0	1	0	0	0	8075	1490	52	5	467	5	KCNMB2	3	178560470	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	47118137	178560470	19461960	60	22296											
KLHL24	54800	broad.mit.edu	37	chr3	183396874	183396874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttatatatttggttaaacagGaaaactgtggtatgtctgtg	10	3	1	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr3:183396874G>A	uc003flv.2	+	8	1898	c.1603G>A	c.(1603-1605)GAA>AAA	p.E535K	KLHL24_uc003flw.2_Missense_Mutation_p.E535K	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	535	Kelch 5.					axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GGTTAAACAGGAAAACTGTGG	0.338													A	183396874	G	A	183396874	3	1	24	1	0	0	0	0	1	0	0	0	8379	1188	41	4	1625	4	KLHL24	3	183396874	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	4836404	183396874	14625556	61	22297											
GAK	2580	broad.mit.edu	37	chr4	843686	843686	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcagctctgctcaccttgtcGgggtgcacagccagcaccgc	12	16	2	0	rs56278731	byFrequency	TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr4:843686G>C	uc003gbm.3	-	27	4027	c.3828C>G	c.(3826-3828)CCC>CCG	p.P1276P	GAK_uc003gbn.3_Silent_p.P1197P|GAK_uc003gbk.3_Silent_p.P73P|GAK_uc010ibi.2_Silent_p.P501P|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Silent_p.P1129P	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	1276	J.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		TCACCTTGTCGGGGTGCACAG	0.532													C	843686	G	C	843686	2	2	24	1	0	0	0	0	0	0	0	1	6195	1103	39	5		5	GAK	4	843686	Silent	SNP	G	TCGA-BR-4369-01A-01D-1158-08		843686	190310590	62	22298											
EVC2	132884	broad.mit.edu	37	chr4	5617166	5617166	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaccttttccaccaggtcttCagaggcctgttcctcacaga	8	14	3	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr4:5617166C>T	uc003gij.2	-	16	2866	c.2812G>A	c.(2812-2814)GAA>AAA	p.E938K	EVC2_uc011bwb.1_Missense_Mutation_p.E378K|EVC2_uc003gik.2_Missense_Mutation_p.E858K	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	938						integral to membrane				large_intestine(3)|ovary(2)	5						ACCAGGTCTTCAGAGGCCTGT	0.507													T	5617166	C	T	5617166	3	4	24	1	0	0	0	0	1	0	0	0	5286	835	29	4	1142	4	EVC2	4	5617166	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	4773480	5617166	185537110	63	22299											
GRXCR1	389207	broad.mit.edu	37	chr4	42895288	42895288	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgggtggaggtgaccatgcTtaaaagggagatgaagccag	16	5	0	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr4:42895288T>G	uc003gwt.2	+	1	5	c.5T>G	c.(4-6)CTT>CGT	p.L2R		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	2					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	p.L2H(1)		ovary(1)	1						GTGACCATGCTTAAAAGGGAG	0.488													G	42895288	T	G	42895288	3	3	24	1	0	0	0	0	1	0	0	0	6812	1609	56	5	7	5	GRXCR1	4	42895288	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	37278122	42895288	148258988	64	22300											
CORIN	10699	broad.mit.edu	37	chr4	47682178	47682178	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagttgacctcgtcagacTtatccacacagtcgtggtca	9	12	2	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr4:47682178T>G	uc003gxm.2	-	8	1205	c.1112A>C	c.(1111-1113)AAG>ACG	p.K371T	CORIN_uc011bzf.1_Missense_Mutation_p.K232T|CORIN_uc011bzg.1_Missense_Mutation_p.K304T|CORIN_uc011bzh.1_Intron|CORIN_uc011bzi.1_Intron|CORIN_uc003gxn.3_3'UTR	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	371	Extracellular (Potential).|LDL-receptor class A 3.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2						CTCGTCAGACTTATCCACACA	0.507													G	47682178	T	G	47682178	3	3	24	1	0	0	0	0	1	0	0	0	3752	1609	56	5	2076	5	CORIN	4	47682178	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	4786890	47682178	143472098	65	22301											
RG9MTD2	93587	broad.mit.edu	37	chr4	100470429	100470429	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaggctttgtctgtgggaAcagctcctttccgttggggc	13	11	1	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr4:100470429A>C	uc003huy.2	-	8	1149	c.836T>G	c.(835-837)GTT>GGT	p.V279G	RG9MTD2_uc003huz.3_Missense_Mutation_p.V279G|RG9MTD2_uc003hva.3_Missense_Mutation_p.V279G	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	RNA (guanine-9-) methyltransferase domain	279							methyltransferase activity			ovary(2)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		GTCTGTGGGAACAGCTCCTTT	0.438													C	100470429	A	C	100470429	3	2	24	1	0	0	0	0	1	0	0	0	13272	43	2	5	187	5	RG9MTD2	4	100470429	Missense_Mutation	SNP	A	TCGA-BR-4369-01A-01D-1158-08	52788251	100470429	90683847	66	22302											
FAT4	79633	broad.mit.edu	37	chr4	126411219	126411219	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctggggtgatttgctGtgcattaatcagtggtatgc	13	8	1	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr4:126411219G>A	uc003ifj.3	+	17	13242	c.13242G>A	c.(13240-13242)CTG>CTA	p.L4414L	FAT4_uc011cgp.1_Silent_p.L2655L|FAT4_uc003ifi.1_Silent_p.L1891L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4414	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GTGATTTGCTGTGCATTAATC	0.577													A	126411219	G	A	126411219	2	1	24	1	0	0	0	0	0	0	0	1	5692	1364	48	4		4	FAT4	4	126411219	Silent	SNP	G	TCGA-BR-4369-01A-01D-1158-08	25940790	126411219	64743057	67	22303											
KIAA0922	23240	broad.mit.edu	37	chr4	154525488	154525488	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaacgggagctctgtccactGaagacctccaagaaactacc	9	13	1	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr4:154525488G>A	uc003inm.3	+	25	3373	c.3321G>A	c.(3319-3321)CTG>CTA	p.L1107L	KIAA0922_uc010ipp.2_Silent_p.L1108L|KIAA0922_uc010ipq.2_Silent_p.L876L	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	1107	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				TCTGTCCACTGAAGACCTCCA	0.428													A	154525488	G	A	154525488	2	1	24	1	0	0	0	0	0	0	0	1	8201	1277	45	4		4	KIAA0922	4	154525488	Silent	SNP	G	TCGA-BR-4369-01A-01D-1158-08	28114269	154525488	36628788	68	22304											
TRIML1	339976	broad.mit.edu	37	chr4	189068336	189068336	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtcagagagcctgtgtgtaAggttggtgtcttcctggact	14	8	2	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr4:189068336A>C	uc003izm.1	+	6	1332	c.1217A>C	c.(1216-1218)AAG>ACG	p.K406T	TRIML1_uc003izn.1_Missense_Mutation_p.K130T	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	406	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCTGTGTGTAAGGTTGGTGTC	0.483													C	189068336	A	C	189068336	3	2	24	1	0	0	0	0	1	0	0	0	16547	72	3	5	1239	5	TRIML1	4	189068336	Missense_Mutation	SNP	A	TCGA-BR-4369-01A-01D-1158-08	34542848	189068336	2085940	69	22305											
ADAMTS16	170690	broad.mit.edu	37	chr5	5303848	5303848	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgccacaagcccaagaAgctgcagtggctggtgtccg	14	13	0	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:5303848A>C	uc003jdl.2	+	20	3293	c.3155A>C	c.(3154-3156)AAG>ACG	p.K1052T	ADAMTS16_uc003jdk.1_Missense_Mutation_p.K1052T	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1052	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						AAGCCCAAGAAGCTGCAGTGG	0.612													C	5303848	A	C	5303848	3	2	24	1	0	0	0	0	1	0	0	0	261	72	3	5	3233	5	ADAMTS16	5	5303848	Missense_Mutation	SNP	A	TCGA-BR-4369-01A-01D-1158-08		5303848	175611412	70	22306											
ADAMTS16	170690	broad.mit.edu	37	chr5	5319202	5319202	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacgggatgtgcagccacaAgttctacggcaagcagtgct	13	11	1	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:5319202A>G	uc003jdl.2	+	23	3764	c.3626A>G	c.(3625-3627)AAG>AGG	p.K1209R		NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1209	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.K1209M(1)		ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						TGCAGCCACAAGTTCTACGGC	0.522													G	5319202	A	G	5319202	3	3	24	1	0	0	0	0	1	0	0	0	261	72	3	3	3716	3	ADAMTS16	5	5319202	Missense_Mutation	SNP	A	TCGA-BR-4369-01A-01D-1158-08	15354	5319202	175596058	71	22307											
SPEF2	79925	broad.mit.edu	37	chr5	35705878	35705878	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaagtaaaagaaattcTtacgactgaaatagcaaaaa	6	4	1	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:35705878T>C	uc003jjo.2	+	18	2744	c.2633T>C	c.(2632-2634)CTT>CCT	p.L878P	SPEF2_uc003jjq.3_Missense_Mutation_p.L873P|SPEF2_uc003jjp.1_Missense_Mutation_p.L364P	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	878	Potential.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAGAAATTCTTACGACTGAA	0.274													C	35705878	T	C	35705878	3	2	24	1	0	0	0	0	1	0	0	0	15034	1609	56	3	2724	3	SPEF2	5	35705878	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	30386676	35705878	145209382	72	22308											
LIFR	3977	broad.mit.edu	37	chr5	38527279	38527279	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acgttttgttcatttagtgtGaatttacttgtagaacttcc	7	6	1	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:38527279G>C	uc010ive.1	-	4	707	c.375C>G	c.(373-375)TTC>TTG	p.F125L	LIFR_uc003jli.2_Missense_Mutation_p.F125L	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	125	Extracellular (Potential).|Fibronectin type-III 1.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					CATTTAGTGTGAATTTACTTG	0.289			T	PLAG1	salivary adenoma								C	38527279	G	C	38527279	3	2	24	1	0	0	0	0	1	0	0	0	8780	1281	45	5	2986	5	LIFR	5	38527279	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	2821401	38527279	142387981	73	22309											
HCN1	348980	broad.mit.edu	37	chr5	45262335	45262335	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcgagggctgcgaggcGgagagtggcctgacttcccg	19	11	0	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:45262335G>A	uc003jok.2	-	8	2386	c.2361C>T	c.(2359-2361)TCC>TCT	p.S787S		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	787	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						GCTGCGAGGCGGAGAGTGGCC	0.622													A	45262335	G	A	45262335	2	1	24	1	0	0	0	0	0	0	0	1	6996	1103	39	1		1	HCN1	5	45262335	Silent	SNP	G	TCGA-BR-4369-01A-01D-1158-08	6735056	45262335	135652925	74	22310											
PIK3R1	5295	broad.mit.edu	37	chr5	67591121	67591121	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattaaaccagaccttatcCagctgagaaagacgagagac	9	10	0	4			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:67591121C>T	uc003jva.2	+	13	2274	c.1714C>T	c.(1714-1716)CAG>TAG	p.Q572*	PIK3R1_uc003jvb.2_Nonsense_Mutation_p.Q572*|PIK3R1_uc003jvc.2_Nonsense_Mutation_p.Q272*|PIK3R1_uc003jvd.2_Nonsense_Mutation_p.Q302*|PIK3R1_uc003jve.2_Nonsense_Mutation_p.Q251*|PIK3R1_uc011crb.1_Nonsense_Mutation_p.Q242*	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	572					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.L570_D578del(1)|p.L570_Q572del(1)|p.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AGACCTTATCCAGCTGAGAAA	0.373			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)			T	67591121	C	T	67591121	4	4	24	1	0	0	0	0	0	1	0	0	11918	595	21	4	1890	4	PIK3R1	5	67591121	Nonsense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	22328786	67591121	113324139	75	22311											
GPR98	84059	broad.mit.edu	37	chr5	90119348	90119348	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggaacttcagtctgtgtcaGggaccacaacctgtacaatg	10	10	3	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:90119348G>C	uc003kju.2	+	76	16399	c.16303G>C	c.(16303-16305)GGG>CGG	p.G5435R	GPR98_uc003kjt.2_Missense_Mutation_p.G3141R|GPR98_uc003kjw.2_Missense_Mutation_p.G1096R	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5435	Calx-beta 35.|Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTCTGTGTCAGGGACCACAAC	0.438													C	90119348	G	C	90119348	3	2	24	1	0	0	0	0	1	0	0	0	6721	1000	35	5	16605	5	GPR98	5	90119348	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	22528227	90119348	90795912	76	22312											
APC	324	broad.mit.edu	37	chr5	112177050	112177050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaaagcagccaataaatcGaggtcagcctaaacccatac	7	12	1	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:112177050G>A	uc010jby.2	+	16	6139	c.5759G>A	c.(5758-5760)CGA>CAA	p.R1920Q	APC_uc011cvt.1_Missense_Mutation_p.R1902Q|APC_uc003kpz.3_Missense_Mutation_p.R1920Q|APC_uc003kpy.3_Missense_Mutation_p.R1920Q|APC_uc010jbz.2_Missense_Mutation_p.R1637Q|APC_uc010jca.2_Missense_Mutation_p.R1220Q	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1920	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCAATAAATCGAGGTCAGCCT	0.423		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			A	112177050	G	A	112177050	3	1	24	1	0	0	0	0	1	0	0	0	763	1058	37	1	5817	1	APC	5	112177050	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	22057702	112177050	68738210	77	22313											
KCNN2	3781	broad.mit.edu	37	chr5	113740479	113740479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagactttaatgactatatgCccaggaactgtactcttggt	8	8	1	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:113740479C>T	uc003kqo.2	+	3	1384	c.927C>T	c.(925-927)TGC>TGT	p.C309C		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	309	Helical; Name=Segment S5; (Potential).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TGACTATATGCCCAGGAACTG	0.373													T	113740479	C	T	113740479	2	4	24	1	0	0	0	0	0	0	0	1	8079	747	26	2		2	KCNN2	5	113740479	Silent	SNP	C	TCGA-BR-4369-01A-01D-1158-08	1563429	113740479	67174781	78	22314											
PCDHA3	56145	broad.mit.edu	37	chr5	140182956	140182956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgctctgcggtgctccgCgccgccaaccgaaggcgact	12	16	1	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:140182956C>T	uc003lhf.2	+	1	2174	c.2174C>T	c.(2173-2175)GCG>GTG	p.A725V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A725V	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	725	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGCTCCGCGCCGCCAACC	0.637													T	140182956	C	T	140182956	3	4	24	1	0	0	0	0	1	0	0	0	11525	768	27	1	2176	1	PCDHA3	5	140182956	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	26442477	140182956	40732304	79	22315											
PCDHAC1	56135	broad.mit.edu	37	chr5	140307553	140307553	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcccctggcacagtgaTtgctctctttagtgtaaagg	11	11	1	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:140307553T>A	uc003lih.2	+	1	1252	c.1076T>A	c.(1075-1077)ATT>AAT	p.I359N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.I359N	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	359	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCACAGTGATTGCTCTCTTT	0.527													A	140307553	T	A	140307553	3	1	24	1	0	0	0	0	1	0	0	0	11532	1493	52	5	1078	5	PCDHAC1	5	140307553	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	124597	140307553	40607707	80	22316											
PCDHB5	26167	broad.mit.edu	37	chr5	140516111	140516111	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccggaaactgtagttgcCgttttcagtgtttctgatcc	10	11	2	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:140516111C>T	uc003liq.2	+	1	1312	c.1095C>T	c.(1093-1095)GCC>GCT	p.A365A		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	365	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTAGTTGCCGTTTTCAGTG	0.488													T	140516111	C	T	140516111	2	4	24	1	0	0	0	0	0	0	0	1	11545	639	23	1		1	PCDHB5	5	140516111	Silent	SNP	C	TCGA-BR-4369-01A-01D-1158-08	208558	140516111	40399149	81	22317											
PCDHB9	56127	broad.mit.edu	37	chr5	140568302	140568302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagccccgccctgcacatcGgcagtgtcagcgccacagac	10	18	1	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:140568302G>A	uc003liw.1	+	3	1411	c.1411G>A	c.(1411-1413)GGC>AGC	p.G471S		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	471	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCACATCGGCAGTGTCAG	0.652													A	140568302	G	A	140568302	3	1	24	1	0	0	0	0	1	0	0	0	11549	1103	39	1	1412	1	PCDHB9	5	140568302	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	52191	140568302	40346958	82	22318											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712418	140712418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggcgctggcacaagtcaCgtctgctacaggcttcggga	14	12	2	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:140712418C>T	uc003lji.1	+	1	2167	c.2167C>T	c.(2167-2169)CGT>TGT	p.R723C	PCDHGA1_uc011dan.1_Missense_Mutation_p.R723C	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	723	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACAAGTCACGTCTGCTACA	0.657													T	140712418	C	T	140712418	3	4	24	1	0	0	0	0	1	0	0	0	11550	536	19	1	2169	1	PCDHGA1	5	140712418	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	144116	140712418	40202842	83	22319											
PCDHGC4	56098	broad.mit.edu	37	chr5	140865132	140865132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgtgaatgatcacgcccCccgttttccgcggcagcagc	11	14	1	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:140865132C>T	uc003lky.1	+	1	392	c.392C>T	c.(391-393)CCC>CTC	p.P131L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.P131L	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	131	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCACGCCCCCCGTTTTCCG	0.572													T	140865132	C	T	140865132	3	4	24	1	0	0	0	0	1	0	0	0	11570	623	22	4	394	4	PCDHGC4	5	140865132	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	152714	140865132	40050128	84	22320											
LARP1	23367	broad.mit.edu	37	chr5	154183812	154183812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacccacccttggagagcCatgtgggctgggtgatggat	14	10	0	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:154183812C>T	uc003lvp.2	+	14	2920	c.2491C>T	c.(2491-2493)CAT>TAT	p.H831Y	LARP1_uc003lvo.2_Missense_Mutation_p.H754Y	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	831							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTTGGAGAGCCATGTGGGCTG	0.532													T	154183812	C	T	154183812	3	4	24	1	0	0	0	0	1	0	0	0	8628	594	21	4	2314	4	LARP1	5	154183812	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	13318680	154183812	26731448	85	22321											
GABRA1	2554	broad.mit.edu	37	chr5	161300185	161300185	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggttaaaatttaaaggAcctatgacagtcctccggtt	9	7	0	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:161300185A>C	uc010jiw.2	+	6	786	c.318A>C	c.(316-318)GGA>GGC	p.G106G	GABRA1_uc010jix.2_Silent_p.G106G|GABRA1_uc010jiy.2_Silent_p.G106G|GABRA1_uc003lyx.3_Silent_p.G106G|GABRA1_uc010jiz.2_Silent_p.G106G|GABRA1_uc010jja.2_Silent_p.G106G|GABRA1_uc010jjb.2_Silent_p.G106G	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	106	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AATTTAAAGGACCTATGACAG	0.388													C	161300185	A	C	161300185	2	2	24	1	0	0	0	0	0	0	0	1	6160	262	10	5		5	GABRA1	5	161300185	Silent	SNP	A	TCGA-BR-4369-01A-01D-1158-08	7116373	161300185	19615075	86	22322											
GFPT2	9945	broad.mit.edu	37	chr5	179729482	179729482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcggaatcacgctcaGgatgccctggaggcagtcca	13	13	2	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:179729482G>A	uc003mlw.1	-	18	2043	c.1945C>T	c.(1945-1947)CTG>TTG	p.L649L		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	649	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			ovary(1)|skin(1)	2	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	ATCACGCTCAGGATGCCCTGG	0.527													A	179729482	G	A	179729482	2	1	24	1	0	0	0	0	0	0	0	1	6346	991	35	4		4	GFPT2	5	179729482	Silent	SNP	G	TCGA-BR-4369-01A-01D-1158-08	18429297	179729482	1185778	87	22323											
DSP	1832	broad.mit.edu	37	chr6	7583269	7583269	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggattctaccagggagacacAgtcacagttagaaacagaac	10	9	2	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr6:7583269A>G	uc003mxp.1	+	24	6053	c.5774A>G	c.(5773-5775)CAG>CGG	p.Q1925R	DSP_uc003mxq.1_Missense_Mutation_p.Q1326R	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1925	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGGAGACACAGTCACAGTTA	0.493													G	7583269	A	G	7583269	3	3	24	1	0	0	0	0	1	0	0	0	4781	188	7	3	5868	3	DSP	6	7583269	Missense_Mutation	SNP	A	TCGA-BR-4369-01A-01D-1158-08		7583269	163531798	88	22324											
HIST1H2BG	8339	broad.mit.edu	37	chr6	26216771	26216771	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acacggagtagctctccttaCgactgcgcttgcgcttcttg	10	13	2	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr6:26216771C>G	uc003ngz.2	-	1	102	c.101G>C	c.(100-102)CGT>CCT	p.R34P	HIST1H2AE_uc003nha.1_5'Flank	NM_003518	NP_003509	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	34					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1		all_hematologic(11;0.196)				GCTCTCCTTACGACTGCGCTT	0.522													G	26216771	C	G	26216771	3	3	24	1	0	0	0	0	1	0	0	0	7146	536	19	5	283	5	HIST1H2BG	6	26216771	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	18633502	26216771	144898296	89	22325											
SCAND3	114821	broad.mit.edu	37	chr6	28554203	28554204	+	Missense_Mutation	DNP	CC	CC	TA													caggatggtcaggaactgctCcagcaccaacaattccagga							TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr6:28554203_28554204CC>TA	uc003nlo.2	-	1	909_910	c.291_292GG>TA	c.(289-294)CTGGAG>CTTAAG	p.E98K	uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	98	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AGGAACTGCTCCAGCACCAACA	0.554													TA	28554204	CC	TA	28554203	3	4	24	1	0	0	0	0	1	0	0	0	13876	864	30	4	3701	4	SCAND3	6	28554203	Missense_Mutation	DNP	CC	TCGA-BR-4369-01A-01D-1158-08	2337432	28554203	142560864	90	22326											
EHMT2	10919	broad.mit.edu	37	chr6	31852223	31852223	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaccccaagtcggagcTtgcggttgagttgaagcgca	12	12	0	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr6:31852223T>A	uc003nxz.1	-	21	2727	c.2717A>T	c.(2716-2718)AAG>ATG	p.K906M	EHMT2_uc003nxv.1_Translation_Start_Site|EHMT2_uc003nxw.1_Translation_Start_Site|EHMT2_uc003nxx.1_Missense_Mutation_p.K104M|EHMT2_uc003nxy.1_Missense_Mutation_p.K704M|EHMT2_uc011don.1_Missense_Mutation_p.K929M|EHMT2_uc003nya.1_Missense_Mutation_p.K872M	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	906					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						AAGTCGGAGCTTGCGGTTGAG	0.637													A	31852223	T	A	31852223	3	1	24	1	0	0	0	0	1	0	0	0	4984	1609	56	5	947	5	EHMT2	6	31852223	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	3298020	31852223	139262844	91	22327											
TFAP2B	7021	broad.mit.edu	37	chr6	50803904	50803904	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctctgctcagttcaacttcGaagtacaaagtaactgtggg	9	9	3	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr6:50803904G>A	uc003pag.2	+	4	898	c.732G>A	c.(730-732)TCG>TCA	p.S244S		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	244					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					GTTCAACTTCGAAGTACAAAG	0.537													A	50803904	G	A	50803904	2	1	24	1	0	0	0	0	0	0	0	1	15785	1045	37	1		1	TFAP2B	6	50803904	Silent	SNP	G	TCGA-BR-4369-01A-01D-1158-08	18951681	50803904	120311163	92	22328											
BAI3	577	broad.mit.edu	37	chr6	70071176	70071176	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatggaaaccttgccgcaTgaaaggctattgcactacaa	10	10	0	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr6:70071176T>C	uc003pev.3	+	29	4459	c.4011T>C	c.(4009-4011)CAT>CAC	p.H1337H	BAI3_uc010kak.2_Silent_p.H1337H|BAI3_uc011dxx.1_Silent_p.H543H	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1337	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				CCTTGCCGCATGAAAGGCTAT	0.408													C	70071176	T	C	70071176	2	2	24	1	0	0	0	0	0	0	0	1	1300	1461	51	3		3	BAI3	6	70071176	Silent	SNP	T	TCGA-BR-4369-01A-01D-1158-08	19267272	70071176	101043891	93	22329											
SERAC1	84947	broad.mit.edu	37	chr6	158540190	158540190	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaataaaaaggacatctgcTttaatgggctgactaatagg	10	5	1	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr6:158540190T>G	uc003qrc.2	-	12	1321	c.1179A>C	c.(1177-1179)AAA>AAC	p.K393N	SERAC1_uc003qrb.2_Missense_Mutation_p.K121N	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	serine active site containing 1	393					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds				0		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		GGACATCTGCTTTAATGGGCT	0.428													G	158540190	T	G	158540190	3	3	24	1	0	0	0	0	1	0	0	0	14074	1606	56	5	809	5	SERAC1	6	158540190	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	88469014	158540190	12574877	94	22330											
WIPI2	26100	broad.mit.edu	37	chr7	5256764	5256764	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgacaactgctacttggcGtacccagggagcgcgaccat	11	13	0	0	rs149226373	byFrequency	TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:5256764G>A	uc003snv.2	+	6	738	c.522G>A	c.(520-522)GCG>GCA	p.A174A	WIPI2_uc003snw.2_Silent_p.A174A|WIPI2_uc003snx.2_Silent_p.A156A|WIPI2_uc003sny.2_Silent_p.A156A|WIPI2_uc010ksv.2_Silent_p.A30A|WIPI2_uc003snz.2_Silent_p.A115A|WIPI2_uc003soa.2_Silent_p.A115A	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	174					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GCTACTTGGCGTACCCAGGGA	0.512													A	5256764	G	A	5256764	2	1	24	1	0	0	0	0	0	0	0	1	17368	1132	40	1		1	WIPI2	7	5256764	Silent	SNP	G	TCGA-BR-4369-01A-01D-1158-08		5256764	153881899	95	22331											
TMEM196	256130	broad.mit.edu	37	chr7	19765389	19765389	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagcaggctgaaaagaggatCatctgataagaaaaagaaag	11	5	2	5			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:19765389C>A	uc011jyg.1	-	3	292	c.207G>T	c.(205-207)ATG>ATT	p.M69I	TMEM196_uc003sur.2_RNA	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN	transmembrane protein 196	75	Helical; (Potential).					integral to membrane					0						AAAAGAGGATCATCTGATAAG	0.473													A	19765389	C	A	19765389	3	1	24	1	0	0	0	0	1	0	0	0	16115	826	29	5	319	5	TMEM196	7	19765389	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	14508625	19765389	139373274	96	22332											
ADCY1	107	broad.mit.edu	37	chr7	45753346	45753346	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccctaccactttgtgtgcCgaggcaaagtcagtgtcaag	11	12	2	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:45753346C>T	uc003tne.3	+	20	3130	c.3112C>T	c.(3112-3114)CGA>TGA	p.R1038*		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	1038	Cytoplasmic (Potential).|Interaction with calmodulin (By similarity).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTTTGTGTGCCGAGGCAAAGT	0.537													T	45753346	C	T	45753346	4	4	24	1	0	0	0	0	0	1	0	0	292	644	23	1	3190	1	ADCY1	7	45753346	Nonsense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	25987957	45753346	113385317	97	22333											
IGFBP3	3486	broad.mit.edu	37	chr7	45954522	45954522	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaccagcagaagccccgcTtcctgcctttggaagggcga	11	15	0	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:45954522T>G	uc003tns.2	-	4	905	c.773A>C	c.(772-774)AAG>ACG	p.K258T	IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Missense_Mutation_p.K264T|IGFBP3_uc003tnt.2_Missense_Mutation_p.K161T	NM_000598	NP_000589	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	258	Thyroglobulin type-1.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(2)|lung(1)	3					Mecasermin(DB01277)	GAAGCCCCGCTTCCTGCCTTT	0.587													G	45954522	T	G	45954522	3	3	24	1	0	0	0	0	1	0	0	0	7580	1609	56	5	106	5	IGFBP3	7	45954522	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	201176	45954522	113184141	98	22334											
ABCA13	154664	broad.mit.edu	37	chr7	48550761	48550761	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttactttccgcaagaacTtggcagccacggccctcctg	8	15	0	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:48550761T>G	uc003toq.2	+	51	13631	c.13606T>G	c.(13606-13608)TTG>GTG	p.L4536V	ABCA13_uc010kys.1_Missense_Mutation_p.L1611V|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.L266V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4536	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CCGCAAGAACTTGGCAGCCAC	0.458													G	48550761	T	G	48550761	3	3	24	1	0	0	0	0	1	0	0	0	31	1606	56	5	13637	5	ABCA13	7	48550761	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	2596239	48550761	110587902	99	22335											
BCL7B	9275	broad.mit.edu	37	chr7	72954381	72954381	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactctggttgctgttttcGtctgaaaaccaaacagaaca	8	9	2	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:72954381G>A	uc003tyf.1	-	4	383	c.267C>T	c.(265-267)GAC>GAT	p.D89D	BCL7B_uc010lbf.1_RNA|BCL7B_uc003tye.1_RNA|BCL7B_uc003tyg.1_Intron	NM_001707	NP_001698	Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7B	89							actin binding			ovary(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGCTGTTTTCGTCTGAAAACC	0.547													A	72954381	G	A	72954381	2	1	24	1	0	0	0	0	0	0	0	1	1379	1159	40	1		1	BCL7B	7	72954381	Silent	SNP	G	TCGA-BR-4369-01A-01D-1158-08	24403620	72954381	86184282	100	22336											
PTPN12	5782	broad.mit.edu	37	chr7	77212905	77212905	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caaaagcatatgtagcaactCaaggacctttagcaaataca	6	9	1	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:77212905C>G	uc003ugh.2	+	4	410	c.319C>G	c.(319-321)CAA>GAA	p.Q107E	PTPN12_uc011kgp.1_5'UTR|PTPN12_uc011kgq.1_Intron|PTPN12_uc010ldq.1_RNA|PTPN12_uc010ldr.1_Intron	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	107	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3						TGTAGCAACTCAAGGACCTTT	0.294													G	77212905	C	G	77212905	3	3	24	1	0	0	0	0	1	0	0	0	12781	827	29	5	333	5	PTPN12	7	77212905	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	4258524	77212905	81925758	101	22337											
TRRAP	8295	broad.mit.edu	37	chr7	98513368	98513368	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcacttgcacaagattgtgaAcagctctatggagctcgcgc	10	11	2	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:98513368A>T	uc003upp.2	+	19	2431	c.2222A>T	c.(2221-2223)AAC>ATC	p.N741I	TRRAP_uc011kis.1_Missense_Mutation_p.N741I|TRRAP_uc003upr.2_Missense_Mutation_p.N433I	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	741					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAGATTGTGAACAGCTCTATG	0.527													T	98513368	A	T	98513368	3	4	24	1	0	0	0	0	1	0	0	0	16598	43	2	5	2292	5	TRRAP	7	98513368	Missense_Mutation	SNP	A	TCGA-BR-4369-01A-01D-1158-08	21300463	98513368	60625295	102	22338											
MOGAT3	346606	broad.mit.edu	37	chr7	100839530	100839530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggctgagaagagaccgCgaccccagaagatgcaagga	15	9	0	4			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:100839530C>T	uc003uyc.2	-	6	976	c.809G>A	c.(808-810)CGC>CAC	p.R270H	MOGAT3_uc010lhr.2_Intron	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	270					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			ovary(2)	2	Lung NSC(181;0.168)|all_lung(186;0.215)					GAAGAGACCGCGACCCCAGAA	0.602													T	100839530	C	T	100839530	3	4	24	1	0	0	0	0	1	0	0	0	9696	768	27	1	224	1	MOGAT3	7	100839530	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	2326162	100839530	58299133	103	22339											
MLL5	55904	broad.mit.edu	37	chr7	104753038	104753038	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccagggcattttttgccctCtcagaaccctaccattcacc	5	16	2	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:104753038C>T	uc003vcm.2	+	27	5369	c.4835C>T	c.(4834-4836)TCT>TTT	p.S1612F	MLL5_uc010ljc.2_Missense_Mutation_p.S1612F|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.S346F	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1612	Pro-rich.				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						TTTTTGCCCTCTCAGAACCCT	0.542													T	104753038	C	T	104753038	3	4	24	1	0	0	0	0	1	0	0	0	9624	913	32	4	4933	4	MLL5	7	104753038	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	3913508	104753038	54385625	104	22340											
FOXP2	93986	broad.mit.edu	37	chr7	114174676	114174676	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatttttacttctaggctcTccaggcagcaagacaacttc	6	12	3	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:114174676T>G	uc003vhb.2	+	3	547	c.173T>G	c.(172-174)CTC>CGC	p.L58R	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.L58R|FOXP2_uc003vha.2_5'UTR|FOXP2_uc011kmu.1_Missense_Mutation_p.L58R|FOXP2_uc011kmv.1_Missense_Mutation_p.L58R|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Missense_Mutation_p.L58R|FOXP2_uc003vgw.2_Missense_Mutation_p.L58R|FOXP2_uc003vgx.2_Missense_Mutation_p.L58R|FOXP2_uc003vhd.2_Missense_Mutation_p.L58R|FOXP2_uc003vhc.2_Missense_Mutation_p.L58R	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	58	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						TTCTAGGCTCTCCAGGCAGCA	0.353													G	114174676	T	G	114174676	3	3	24	1	0	0	0	0	1	0	0	0	6027	1551	54	5	179	5	FOXP2	7	114174676	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	9421638	114174676	44963987	105	22341											
AHCYL2	23382	broad.mit.edu	37	chr7	129066383	129066383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactcaacaagaatgggcCcttcaagcctaattactaca	8	11	2	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:129066383C>T	uc011kov.1	+	16	1862	c.1808C>T	c.(1807-1809)CCC>CTC	p.P603L	AHCYL2_uc003vot.2_Missense_Mutation_p.P602L|AHCYL2_uc003vov.2_Missense_Mutation_p.P500L|AHCYL2_uc011kow.1_Missense_Mutation_p.P501L|AHCYL2_uc011kox.1_Missense_Mutation_p.P500L	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	S-adenosylhomocysteine hydrolase-like 2 isoform	603					one-carbon metabolic process		adenosylhomocysteinase activity			ovary(2)	2						AAGAATGGGCCCTTCAAGCCT	0.527													T	129066383	C	T	129066383	3	4	24	1	0	0	0	0	1	0	0	0	411	623	22	4	1992	4	AHCYL2	7	129066383	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	14891707	129066383	30072280	106	22342											
MLL3	58508	broad.mit.edu	37	chr7	151874791	151874791	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctcagattagaagatgcctCtacaacgctgccaggtggag	11	10	2	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:151874791C>G	uc003wla.2	-	38	7966	c.7747G>C	c.(7747-7749)GAG>CAG	p.E2583Q	MLL3_uc003wkz.2_Missense_Mutation_p.E1644Q|MLL3_uc003wky.2_Missense_Mutation_p.E92Q	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2583	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GAAGATGCCTCTACAACGCTG	0.557			N		medulloblastoma								G	151874791	C	G	151874791	3	3	24	1	0	0	0	0	1	0	0	0	9622	922	32	5	7076	5	MLL3	7	151874791	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	22808408	151874791	7263872	107	22343											
GSR	2936	broad.mit.edu	37	chr8	30546716	30546716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccttggtattcgggacccGcccaatggcccagagcaggc	13	14	0	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:30546716G>A	uc003xih.1	-	9	1094	c.1003C>T	c.(1003-1005)CGG>TGG	p.R335W		NM_000637	NP_000628	P00390	GSHR_HUMAN	glutathione reductase precursor	335					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			ovary(2)|pancreas(2)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TTCGGGACCCGCCCAATGGCC	0.488													A	30546716	G	A	30546716	3	1	24	1	0	0	0	0	1	0	0	0	6828	1086	38	1	585	1	GSR	8	30546716	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08		30546716	115817306	108	22344											
UNC5D	137970	broad.mit.edu	37	chr8	35631916	35631916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccctactccatcagacagCggatttgtgctacatttgat	7	11	1	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:35631916C>T	uc003xjr.1	+	16	2906	c.2578C>T	c.(2578-2580)CGG>TGG	p.R860W	UNC5D_uc003xjs.1_Missense_Mutation_p.R855W|UNC5D_uc003xju.1_Missense_Mutation_p.R436W	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	860	Death.|Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CATCAGACAGCGGATTTGTGC	0.488													T	35631916	C	T	35631916	3	4	24	1	0	0	0	0	1	0	0	0	16992	759	27	1	2640	1	UNC5D	8	35631916	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	5085200	35631916	110732106	109	22345											
PXDNL	137902	broad.mit.edu	37	chr8	52321637	52321637	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgccccgggggtcggcGtgccgggtgttcatggggaa	21	9	1	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:52321637G>A	uc003xqu.3	-	17	2648	c.2547C>T	c.(2545-2547)CAC>CAT	p.H849H	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	849					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGGGGTCGGCGTGCCGGGTGT	0.692													A	52321637	G	A	52321637	2	1	24	1	0	0	0	0	0	0	0	1	12848	1136	40	1		1	PXDNL	8	52321637	Silent	SNP	G	TCGA-BR-4369-01A-01D-1158-08	16689721	52321637	94042385	110	22346											
MOS	4342	broad.mit.edu	37	chr8	57026167	57026167	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggaccctgcgggcgtgcgCgtgctggcagccaccacgcg	16	15	0	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:57026167C>T	uc011leb.1	-	1	375	c.375G>A	c.(373-375)ACG>ACA	p.T125T		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	125	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			CGGGCGTGCGCGTGCTGGCAG	0.612													T	57026167	C	T	57026167	2	4	24	1	0	0	0	0	0	0	0	1	9712	755	27	1		1	MOS	8	57026167	Silent	SNP	C	TCGA-BR-4369-01A-01D-1158-08	4704530	57026167	89337855	111	22347											
CYP7B1	9420	broad.mit.edu	37	chr8	65536991	65536991	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtgaaagtgtcaccatgTtgcttttgaagtgttttcat	9	6	2	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:65536991T>G	uc003xvj.2	-	2	432	c.228A>C	c.(226-228)CAA>CAC	p.Q76H		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	76					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGTCACCATGTTGCTTTTGAA	0.383													G	65536991	T	G	65536991	3	3	24	1	0	0	0	0	1	0	0	0	4197	1722	60	5	1312	5	CYP7B1	8	65536991	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	8510824	65536991	80827031	112	22348											
CNGB3	54714	broad.mit.edu	37	chr8	87645052	87645052	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaacaatttcaaataaAgtttgtggttctggaaggcc	9	5	2	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:87645052A>C	uc003ydx.2	-	11	1294	c.1248T>G	c.(1246-1248)ACT>ACG	p.T416T	CNGB3_uc010maj.2_Silent_p.T278T	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	416	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						TTTCAAATAAAGTTTGTGGTT	0.338													C	87645052	A	C	87645052	2	2	24	1	0	0	0	0	0	0	0	1	3601	59	3	5		5	CNGB3	8	87645052	Silent	SNP	A	TCGA-BR-4369-01A-01D-1158-08	22108061	87645052	58718970	113	22349											
CNGB3	54714	broad.mit.edu	37	chr8	87751922	87751922	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcagacgtgactggagTtgacttggttttgagagatt	12	6	2	5			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:87751922T>G	uc003ydx.2	-	2	218	c.172A>C	c.(172-174)ACT>CCT	p.T58P		NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	58	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						GTGACTGGAGTTGACTTGGTT	0.318													G	87751922	T	G	87751922	3	3	24	1	0	0	0	0	1	0	0	0	3601	1725	60	5	2325	5	CNGB3	8	87751922	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	106870	87751922	58612100	114	22350											
CNBD1	168975	broad.mit.edu	37	chr8	87899806	87899806	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacattaattatggccagtTgaatgcattatgccacatta	7	8	0	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:87899806T>C	uc003ydy.2	+	2	173	c.125T>C	c.(124-126)TTG>TCG	p.L42S		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	42										ovary(3)	3						TATGGCCAGTTGAATGCATTA	0.284													C	87899806	T	C	87899806	3	2	24	1	0	0	0	0	1	0	0	0	3591	1821	63	3	131	3	CNBD1	8	87899806	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	147884	87899806	58464216	115	22351											
MMP16	4325	broad.mit.edu	37	chr8	89068435	89068435	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accatgagggggaattccacTtccaagggttatcaagtcat	10	9	2	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:89068435T>C	uc003yeb.3	-	8	1576	c.1294A>G	c.(1294-1296)AGT>GGT	p.S432G		NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	432	Hemopexin-like 2.|Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						GGAATTCCACTTCCAAGGGTT	0.418													C	89068435	T	C	89068435	3	2	24	1	0	0	0	0	1	0	0	0	9655	1609	56	3	541	3	MMP16	8	89068435	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	1168629	89068435	57295587	116	22352											
RIMS2	9699	broad.mit.edu	37	chr8	105160990	105160990	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgggcaccagtggcaaaaAgcggcgctctagccttggtg	14	11	1	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:105160990A>G	uc003yls.2	+	23	3543	c.3302A>G	c.(3301-3303)AAG>AGG	p.K1101R	RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.K1090R|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGTGGCAAAAAGCGGCGCTCT	0.522										HNSCC(12;0.0054)			G	105160990	A	G	105160990	3	3	24	1	0	0	0	0	1	0	0	0	13368	87	3	3		3	RIMS2	8	105160990	Missense_Mutation	SNP	A	TCGA-BR-4369-01A-01D-1158-08	16092555	105160990	41203032	117	22353											
RIMS2	9699	broad.mit.edu	37	chr8	105263384	105263384	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agagagtccacaaggaaaagTtttacaggtatctacttaat	8	6	1	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:105263384T>A	uc003yls.2	+	27	4119	c.3878T>A	c.(3877-3879)GTT>GAT	p.V1293D	RIMS2_uc003ylp.2_Missense_Mutation_p.V1275D|RIMS2_uc003ylw.2_Missense_Mutation_p.V1282D|RIMS2_uc003ylq.2_Missense_Mutation_p.V1089D|RIMS2_uc003ylr.2_Missense_Mutation_p.V1114D	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1337	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAAGGAAAAGTTTTACAGGTA	0.368										HNSCC(12;0.0054)			A	105263384	T	A	105263384	3	1	24	1	0	0	0	0	1	0	0	0	13368	1725	60	5	4110	5	RIMS2	8	105263384	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	102394	105263384	41100638	118	22354											
CSMD3	114788	broad.mit.edu	37	chr8	113933947	113933947	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgccctgtaggacataatcTtcatcacaagagaactgcac	8	12	3	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:113933947T>G	uc003ynu.2	-	10	1701	c.1542A>C	c.(1540-1542)GAA>GAC	p.E514D	CSMD3_uc003ynt.2_Missense_Mutation_p.E474D|CSMD3_uc011lhx.1_Missense_Mutation_p.E410D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	514	Extracellular (Potential).|Sushi 2.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GGACATAATCTTCATCACAAG	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113933947	T	G	113933947	3	3	24	1	0	0	0	0	1	0	0	0	3946	1606	56	5	9829	5	CSMD3	8	113933947	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	8670563	113933947	32430075	119	22355											
TRPS1	7227	broad.mit.edu	37	chr8	116599678	116599678	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtcaattttgggctcctcTttgatggtggatatggcatg	12	6	2	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:116599678T>G	uc003ynz.2	-	4	2670	c.2211A>C	c.(2209-2211)AAA>AAC	p.K737N	TRPS1_uc011lhy.1_Missense_Mutation_p.K741N|TRPS1_uc003yny.2_Missense_Mutation_p.K750N|TRPS1_uc010mcy.2_Missense_Mutation_p.K737N	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	737	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGGGCTCCTCTTTGATGGTGG	0.498									Langer-Giedion_syndrome				G	116599678	T	G	116599678	3	3	24	1	0	0	0	0	1	0	0	0	16590	1606	56	5	1646	5	TRPS1	8	116599678	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	2665731	116599678	29764344	120	22356											
OC90	729330	broad.mit.edu	37	chr8	133048652	133048652	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgatcagtctgtcagcctcAgtctctgcagccactgtgaa	10	12	5	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:133048652A>G	uc003ytg.2	-	8	645	c.645T>C	c.(643-645)ACT>ACC	p.T215T	OC90_uc011lix.1_Intron	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90	231					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TGTCAGCCTCAGTCTCTGCAG	0.453													G	133048652	A	G	133048652	2	3	24	1	0	0	0	0	0	0	0	1	10814	203	7	3		3	OC90	8	133048652	Silent	SNP	A	TCGA-BR-4369-01A-01D-1158-08	16448974	133048652	13315370	121	22357											
KCNV2	169522	broad.mit.edu	37	chr9	2718193	2718193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agacagacgaatacttcttcGaccgcgacccggccgtcttc	9	15	2	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr9:2718193G>A	uc003zho.1	+	1	668	c.454G>A	c.(454-456)GAC>AAC	p.D152N		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	152	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		ATACTTCTTCGACCGCGACCC	0.652													A	2718193	G	A	2718193	3	1	24	1	0	0	0	0	1	0	0	0	8095	1058	37	1	456	1	KCNV2	9	2718193	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08		2718193	138495238	122	22358											
PTPRD	5789	broad.mit.edu	37	chr9	8376048	8376048	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accatgatcaggccaggcggTgaactggaattgtctcactt	11	10	2	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr9:8376048T>G	uc003zkk.2	-	38	5260	c.4549A>C	c.(4549-4551)ACC>CCC	p.T1517P	PTPRD_uc003zkp.2_Missense_Mutation_p.T1111P|PTPRD_uc003zkq.2_Missense_Mutation_p.T1110P|PTPRD_uc003zkr.2_Missense_Mutation_p.T1101P|PTPRD_uc003zks.2_Missense_Mutation_p.T1110P|PTPRD_uc003zkl.2_Missense_Mutation_p.T1508P|PTPRD_uc003zkm.2_Missense_Mutation_p.T1504P|PTPRD_uc003zkn.2_Missense_Mutation_p.T1106P|PTPRD_uc003zko.2_Missense_Mutation_p.T1107P	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1517	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGCCAGGCGGTGAACTGGAAT	0.458										TSP Lung(15;0.13)			G	8376048	T	G	8376048	3	3	24	1	0	0	0	0	1	0	0	0	12799	1696	59	5	1221	5	PTPRD	9	8376048	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	5657855	8376048	132837383	123	22359											
KIF27	55582	broad.mit.edu	37	chr9	86506355	86506355	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaagtcactgacaggttaAgttttgttagttcttcactc	8	7	3	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr9:86506355A>C	uc004ana.2	-	6	1808	c.1664T>G	c.(1663-1665)CTT>CGT	p.L555R	KIF27_uc010mpw.2_Missense_Mutation_p.L555R|KIF27_uc010mpx.2_Missense_Mutation_p.L555R	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	555	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						TGACAGGTTAAGTTTTGTTAG	0.358													C	86506355	A	C	86506355	3	2	24	1	0	0	0	0	1	0	0	0	8296	72	3	5	2593	5	KIF27	9	86506355	Missense_Mutation	SNP	A	TCGA-BR-4369-01A-01D-1158-08	78130307	86506355	54707076	124	22360											
NXNL2	158046	broad.mit.edu	37	chr9	91150520	91150520	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctatacggcgctggtggcCgaggcgcggcggcccgcgcc	17	15	1	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr9:91150520C>T	uc011ltj.1	+	1	505	c.171C>T	c.(169-171)GCC>GCT	p.A57A	NXNL2_uc004aqa.2_Silent_p.A57A	NM_001161625	NP_001155097	Q5VZ03	NXNL2_HUMAN	nucleoredoxin-like 2 isoform 1	57	Thioredoxin.										0						CGCTGGTGGCCGAGGCGCGGC	0.692													T	91150520	C	T	91150520	2	4	24	1	0	0	0	0	0	0	0	1	10789	639	23	1		1	NXNL2	9	91150520	Silent	SNP	C	TCGA-BR-4369-01A-01D-1158-08	4644165	91150520	50062911	125	22361											
TLR4	7099	broad.mit.edu	37	chr9	120475898	120475898	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacagagctgagaaacTtgaccttcctggacctctct	7	13	3	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr9:120475898T>G	uc004bjz.2	+	3	1783	c.1492T>G	c.(1492-1494)TTG>GTG	p.L498V	TLR4_uc004bka.2_Missense_Mutation_p.L458V|TLR4_uc004bkb.2_Missense_Mutation_p.L298V	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	498	LRR 16.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						GCTGAGAAACTTGACCTTCCT	0.448													G	120475898	T	G	120475898	3	3	24	1	0	0	0	0	1	0	0	0	15950	1606	56	5	1502	5	TLR4	9	120475898	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	29325378	120475898	20737533	126	22362											
SPTAN1	6709	broad.mit.edu	37	chr9	131329152	131329152	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaagctggaagattcctatCgattccagttctttcaaaga	8	8	2	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr9:131329152C>T	uc004bvl.3	+	2	246	c.133C>T	c.(133-135)CGA>TGA	p.R45*	SPTAN1_uc011mbg.1_Nonsense_Mutation_p.R45*|SPTAN1_uc011mbh.1_Nonsense_Mutation_p.R57*|SPTAN1_uc004bvm.3_Nonsense_Mutation_p.R45*|SPTAN1_uc004bvn.3_Nonsense_Mutation_p.R45*	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	45	Spectrin 2.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						AGATTCCTATCGATTCCAGTT	0.468													T	131329152	C	T	131329152	4	4	24	1	0	0	0	0	0	1	0	0	15116	876	31	1	135	1	SPTAN1	9	131329152	Nonsense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	10853254	131329152	9884279	127	22363											
FAM78A	286336	broad.mit.edu	37	chr9	134136516	134136516	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agctctggtcccggtagataTtggtgagcttggccacgttg	14	9	1	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr9:134136516T>A	uc004cak.2	-	2	885	c.545A>T	c.(544-546)AAT>ATT	p.N182I	FAM78A_uc004caj.2_Missense_Mutation_p.N179I	NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN	hypothetical protein LOC286336	182										ovary(1)	1	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CCGGTAGATATTGGTGAGCTT	0.572													A	134136516	T	A	134136516	3	1	24	1	0	0	0	0	1	0	0	0	5626	1493	52	5	310	5	FAM78A	9	134136516	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	2807364	134136516	7076915	128	22364											
CUBN	8029	broad.mit.edu	37	chr10	17087092	17087092	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctgccgtggctagattTcaaccaccagtagcattcag	10	12	2	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr10:17087092T>G	uc001ioo.2	-	25	3638	c.3586A>C	c.(3586-3588)AAA>CAA	p.K1196Q		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1196	CUB 7.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGCTAGATTTCAACCACCAG	0.463													G	17087092	T	G	17087092	3	3	24	1	0	0	0	0	1	0	0	0	4051	1792	62	5	7457	5	CUBN	10	17087092	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08		17087092	118447655	129	22365											
NRG3	10718	broad.mit.edu	37	chr10	84744903	84744903	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatacatcaataaatatgCaactgccttcaagagagaca	6	8	2	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr10:84744903C>T	uc001kco.2	+	9	1660	c.1633C>T	c.(1633-1635)CAA>TAA	p.Q545*	NRG3_uc010qlz.1_Nonsense_Mutation_p.Q544*|NRG3_uc001kcp.2_Nonsense_Mutation_p.Q348*|NRG3_uc001kcq.2_Nonsense_Mutation_p.Q195*|NRG3_uc001kcr.2_Nonsense_Mutation_p.Q219*	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	569	Cytoplasmic (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AATAAATATGCAACTGCCTTC	0.418													T	84744903	C	T	84744903	4	4	24	1	0	0	0	0	0	1	0	0	10649	711	25	2	1911	2	NRG3	10	84744903	Nonsense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	67657811	84744903	50789844	130	22366											
BTAF1	9044	broad.mit.edu	37	chr10	93786897	93786897	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttatccagaaacgtgtggTtaacgtataccgattgataa	8	7	1	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr10:93786897T>G	uc001khr.2	+	37	5344	c.5246T>G	c.(5245-5247)GTT>GGT	p.V1749G		NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	1749	Helicase C-terminal.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				AAACGTGTGGTTAACGTATAC	0.373													G	93786897	T	G	93786897	3	3	24	1	0	0	0	0	1	0	0	0	1536	1725	60	5	5392	5	BTAF1	10	93786897	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	9041994	93786897	41747850	131	22367											
TACC2	10579	broad.mit.edu	37	chr10	124008265	124008265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgtggagaagtctctggccGacctcttcagaagatatgag	12	10	3	4			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr10:124008265G>A	uc001lfv.2	+	20	8860	c.8500G>A	c.(8500-8502)GAC>AAC	p.D2834N	TACC2_uc001lfw.2_Missense_Mutation_p.D980N|TACC2_uc009xzx.2_Missense_Mutation_p.D2712N|TACC2_uc010qtv.1_Missense_Mutation_p.D2761N|TACC2_uc001lfx.2_Missense_Mutation_p.D461N|TACC2_uc001lfy.2_Missense_Mutation_p.D457N|TACC2_uc001lfz.2_Missense_Mutation_p.D912N|TACC2_uc001lga.2_Missense_Mutation_p.D882N|TACC2_uc009xzy.2_Missense_Mutation_p.D894N|TACC2_uc001lgb.2_Missense_Mutation_p.D792N	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2834	Potential.					microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTCTCTGGCCGACCTCTTCAG	0.572													A	124008265	G	A	124008265	3	1	24	1	0	0	0	0	1	0	0	0	15499	1058	37	1	8646	1	TACC2	10	124008265	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	30221368	124008265	11526482	132	22368											
FAM196A	642938	broad.mit.edu	37	chr10	128974010	128974010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctggtaatcgggctcttcgGatggaggccgagtggagttt	17	7	1	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr10:128974010G>A	uc001lju.1	-	1	691	c.650C>T	c.(649-651)TCC>TTC	p.S217F	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.S217F|FAM196A_uc001ljv.1_Missense_Mutation_p.S217F|FAM196A_uc009yap.1_Missense_Mutation_p.S217F	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	217										ovary(2)	2						GGGCTCTTCGGATGGAGGCCG	0.627													A	128974010	G	A	128974010	3	1	24	1	0	0	0	0	1	0	0	0	5528	1174	41	4	801	4	FAM196A	10	128974010	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	4965745	128974010	6560737	133	22369											
OR52N4	390072	broad.mit.edu	37	chr11	5776694	5776694	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcagaaggcctttaatAcctgcactgcccacatttgt	8	13	0	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr11:5776694A>G	uc001mbu.2	+	1	772	c.724A>G	c.(724-726)ACC>GCC	p.T242A	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GGCCTTTAATACCTGCACTGC	0.498													G	5776694	A	G	5776694	3	3	24	1	0	0	0	0	1	0	0	0	11129	391	14	3	726	3	OR52N4	11	5776694	Missense_Mutation	SNP	A	TCGA-BR-4369-01A-01D-1158-08		5776694	129229822	134	22370											
OVCH2	341277	broad.mit.edu	37	chr11	7722004	7722004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggcccctttcttattcCggcacatgagtgaacctcct	7	15	1	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr11:7722004C>T	uc010rbf.1	-	7	740	c.740G>A	c.(739-741)CGG>CAG	p.R247Q		NM_198185	NP_937828			ovochymase 2 precursor												0				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		TTTCTTATTCCGGCACATGAG	0.512													T	7722004	C	T	7722004	3	4	24	1	0	0	0	0	1	0	0	0	11324	652	23	1	989	1	OVCH2	11	7722004	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	1945310	7722004	127284512	135	22371											
OR4C15	81309	broad.mit.edu	37	chr11	55322842	55322842	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaacaggccatgaggagaAtatggaacagactgatggtg	13	5	0	4			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr11:55322842A>C	uc010rig.1	+	1	1060	c.1060A>C	c.(1060-1062)ATA>CTA	p.I354L		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CATGAGGAGAATATGGAACAG	0.318										HNSCC(20;0.049)			C	55322842	A	C	55322842	3	2	24	1	0	0	0	0	1	0	0	0	11048	101	4	5	1062	5	OR4C15	11	55322842	Missense_Mutation	SNP	A	TCGA-BR-4369-01A-01D-1158-08	47600838	55322842	79683674	136	22372											
OR8H1	219469	broad.mit.edu	37	chr11	56057755	56057755	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaagaataagactttcTtggttttaaataagtaaaaa	5	5	1	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr11:56057755T>G	uc010rje.1	-	1	784	c.784A>C	c.(784-786)AGA>CGA	p.R262R		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					TAAGACTTTCTTGGTTTTAAA	0.358													G	56057755	T	G	56057755	2	3	24	1	0	0	0	0	0	0	0	1	11237	1617	56	5		5	OR8H1	11	56057755	Silent	SNP	T	TCGA-BR-4369-01A-01D-1158-08	734913	56057755	78948761	137	22373											
FAT3	120114	broad.mit.edu	37	chr11	92616518	92616518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaccctgccgctccgactGcgactccatccggaagaatg	10	16	1	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr11:92616518G>A	uc001pdj.3	+	23	12913	c.12896G>A	c.(12895-12897)TGC>TAC	p.C4299Y	FAT3_uc001pdi.3_Missense_Mutation_p.C739Y	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4299	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGCTCCGACTGCGACTCCATC	0.657										TCGA Ovarian(4;0.039)			A	92616518	G	A	92616518	3	1	24	1	0	0	0	0	1	0	0	0	5691	1319	46	2	12986	2	FAT3	11	92616518	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	36558763	92616518	42389998	138	22374											
DDI1	414301	broad.mit.edu	37	chr11	103907674	103907674	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcggagtccagagtccccGtcgaagagatccagatcatc	11	12	1	3	rs147776291	byFrequency	TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr11:103907674G>T	uc001phr.2	+	1	367	c.124G>T	c.(124-126)GTC>TTC	p.V42F	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	42	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CAGAGTCCCCGTCGAAGAGAT	0.577													T	103907674	G	T	103907674	3	4	24	1	0	0	0	0	1	0	0	0	4328	1145	40	5	126	5	DDI1	11	103907674	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	11291156	103907674	31098842	139	22375											
KCNA5	3741	broad.mit.edu	37	chr12	5154807	5154807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggcaagatcgtgggctcGctgtgtgccatcgccggggt	19	10	0	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr12:5154807G>A	uc001qni.2	+	1	1723	c.1494G>A	c.(1492-1494)TCG>TCA	p.S498S		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	498	Helical; Name=Segment S6; (Potential).					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						TCGTGGGCTCGCTGTGTGCCA	0.612													A	5154807	G	A	5154807	2	1	24	1	0	0	0	0	0	0	0	1	8006	1074	38	1		1	KCNA5	12	5154807	Silent	SNP	G	TCGA-BR-4369-01A-01D-1158-08		5154807	128697088	140	22376											
GNB3	2784	broad.mit.edu	37	chr12	6954785	6954785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggccatctgcacgggctcGgatgacgcttcctgccgctt	13	14	1	1	rs112732503		TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr12:6954785G>A	uc001qrd.2	+	10	1140	c.735G>A	c.(733-735)TCG>TCA	p.S245S	GNB3_uc001qrc.2_Silent_p.S201S|GNB3_uc009zfe.2_Silent_p.S244S|CDCA3_uc001qre.2_3'UTR|uc001qrf.1_RNA	NM_002075	NP_002066	P16520	GBB3_HUMAN	guanine nucleotide-binding protein, beta-3	245	WD 5.				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity				0						GCACGGGCTCGGATGACGCTT	0.632													A	6954785	G	A	6954785	2	1	24	1	0	0	0	0	0	0	0	1	6519	1103	39	1		1	GNB3	12	6954785	Silent	SNP	G	TCGA-BR-4369-01A-01D-1158-08	1799978	6954785	126897110	141	22377											
CD163L1	283316	broad.mit.edu	37	chr12	7528460	7528460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccacagaaagagatatgGcatctccacagtttaattct	6	11	2	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr12:7528460G>A	uc001qsy.2	-	10	2548	c.2522C>T	c.(2521-2523)GCC>GTC	p.A841V	CD163L1_uc010sge.1_Missense_Mutation_p.A851V	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	841	SRCR 8.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						AAGAGATATGGCATCTCCACA	0.453													A	7528460	G	A	7528460	3	1	24	1	0	0	0	0	1	0	0	0	2968	1203	42	2	1879	2	CD163L1	12	7528460	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	573675	7528460	126323435	142	22378											
LST-3TM12	338821	broad.mit.edu	37	chr12	21200087	21200087	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctacattgcttctcttacTtatatcattaaaatggtgga	6	7	2	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr12:21200087T>G	uc010sin.1	+	7	930	c.930T>G	c.(928-930)ACT>ACG	p.T310T	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.T357T	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	310						membrane	transporter activity				0						CTTCTCTTACTTATATCATTA	0.338													G	21200087	T	G	21200087	2	3	24	1	0	0	0	0	0	0	0	1	9066	1596	56	5		5	LST-3TM12	12	21200087	Silent	SNP	T	TCGA-BR-4369-01A-01D-1158-08	13671627	21200087	112651808	143	22379											
SH2B3	10019	broad.mit.edu	37	chr12	111884628	111884628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgcacacggcttgagatGcctgacaacctttacacctt	9	12	0	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr12:111884628G>A	uc001tse.2	+	3	1161	c.804G>A	c.(802-804)ATG>ATA	p.M268I	SH2B3_uc010syf.1_Missense_Mutation_p.M268I|SH2B3_uc001tsf.2_Missense_Mutation_p.M268I|SH2B3_uc010syg.1_Missense_Mutation_p.M66I	NM_005475	NP_005466	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	268	PH.				blood coagulation	cytosol	signal transducer activity			ovary(1)	1						GGCTTGAGATGCCTGACAACC	0.522													A	111884628	G	A	111884628	3	1	24	1	0	0	0	0	1	0	0	0	14229	1319	46	2	810	2	SH2B3	12	111884628	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	90684541	111884628	21967267	144	22380											
SACS	26278	broad.mit.edu	37	chr13	23905608	23905608	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttcactcctaaactgtcaAgtttctcaccaatcctgtaa	3	12	3	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr13:23905608A>C	uc001uon.2	-	10	12996	c.12407T>G	c.(12406-12408)CTT>CGT	p.L4136R	SACS_uc001uoo.2_Missense_Mutation_p.L3989R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4136					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAAACTGTCAAGTTTCTCACC	0.383													C	23905608	A	C	23905608	3	2	24	1	0	0	0	0	1	0	0	0	13804	72	3	5	1336	5	SACS	13	23905608	Missense_Mutation	SNP	A	TCGA-BR-4369-01A-01D-1158-08		23905608	91264270	145	22381											
DCLK1	9201	broad.mit.edu	37	chr13	36686252	36686252	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgaagacactgcccgagaAgccgaggtggtcttgacgtt	14	9	1	4			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr13:36686252A>C	uc001uvf.2	-	3	710	c.477T>G	c.(475-477)GCT>GCG	p.A159A		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	159					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTGCCCGAGAAGCCGAGGTGG	0.517													C	36686252	A	C	36686252	2	2	24	1	0	0	0	0	0	0	0	1	4291	59	3	5		5	DCLK1	13	36686252	Silent	SNP	A	TCGA-BR-4369-01A-01D-1158-08	12780644	36686252	78483626	146	22382											
SPG20	23111	broad.mit.edu	37	chr13	36888456	36888456	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactaacttccacgggttttTcttctggttgaatccgctct	8	11	3	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr13:36888456T>C	uc001uvn.2	-	7	1661	c.1391A>G	c.(1390-1392)GAA>GGA	p.E464G	SPG20_uc010ten.1_Missense_Mutation_p.E454G|SPG20_uc001uvm.2_Missense_Mutation_p.E464G|SPG20_uc001uvo.2_Missense_Mutation_p.E464G|SPG20_uc001uvq.2_Missense_Mutation_p.E464G	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	464					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CACGGGTTTTTCTTCTGGTTG	0.478													C	36888456	T	C	36888456	3	2	24	1	0	0	0	0	1	0	0	0	15041	1783	62	3	625	3	SPG20	13	36888456	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	202204	36888456	78281422	147	22383											
FOXO1	2308	broad.mit.edu	37	chr13	41134248	41134248	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcaactccttcaagagTccaggcgcacagttatactg	9	12	2	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr13:41134248T>C	uc001uxl.3	-	2	1765	c.1380A>G	c.(1378-1380)GGA>GGG	p.G460G	FOXO1_uc010acc.1_Silent_p.G275G	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	forkhead box O1	460					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX3/FOXO1(749)|PAX7/FOXO1(197)	soft_tissue(946)|lung(1)|central_nervous_system(1)	948		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		CCTTCAAGAGTCCAGGCGCAC	0.517													C	41134248	T	C	41134248	2	2	24	1	0	0	0	0	0	0	0	1	6023	1654	58	3		3	FOXO1	13	41134248	Silent	SNP	T	TCGA-BR-4369-01A-01D-1158-08	4245792	41134248	74035630	148	22384											
COCH	1690	broad.mit.edu	37	chr14	31349900	31349900	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagtggctctaatgttgggaAttggaacagaaggaccacat	12	6	1	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr14:31349900A>T	uc001wqr.2	+	8	669	c.589A>T	c.(589-591)ATT>TTT	p.I197F	COCH_uc001wqp.2_Missense_Mutation_p.I197F|COCH_uc001wqq.3_Missense_Mutation_p.I197F|uc001wqs.2_Intron|COCH_uc001wqt.1_Missense_Mutation_p.I4F	NM_004086	NP_004077	O43405	COCH_HUMAN	cochlin precursor	197	VWFA 1.				sensory perception of sound	proteinaceous extracellular matrix				pancreas(1)|central_nervous_system(1)|skin(1)	3	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		AATGTTGGGAATTGGAACAGA	0.343													T	31349900	A	T	31349900	3	4	24	1	0	0	0	0	1	0	0	0	3656	101	4	5	615	5	COCH	14	31349900	Missense_Mutation	SNP	A	TCGA-BR-4369-01A-01D-1158-08		31349900	75999640	149	22385											
EXOC5	10640	broad.mit.edu	37	chr14	57675476	57675476	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aactaccagaagattgcaaaGagcatgcagagtatcaaaaa	8	7	1	4			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr14:57675476G>C	uc001xct.2	-	18	2229	c.1978C>G	c.(1978-1980)CTT>GTT	p.L660V	EXOC5_uc001xcs.2_Missense_Mutation_p.L339V|EXOC5_uc010trg.1_Missense_Mutation_p.L605V|EXOC5_uc010trh.1_Missense_Mutation_p.L595V	NM_006544	NP_006535	O00471	EXOC5_HUMAN	SEC10 protein	660					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				ovary(2)|breast(1)	3						AGATTGCAAAGAGCATGCAGA	0.348													C	57675476	G	C	57675476	3	2	24	1	0	0	0	0	1	0	0	0	5307	942	33	5	152	5	EXOC5	14	57675476	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	26325576	57675476	49674064	150	22386											
ARID4A	5926	broad.mit.edu	37	chr14	58832906	58832906	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ataaacacagagaaaaacatCcgaattcatcccctaggaca	5	11	1	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr14:58832906C>G	uc001xdp.2	+	22	3735	c.3481C>G	c.(3481-3483)CCG>GCG	p.P1161A	ARID4A_uc001xdo.2_Intron|ARID4A_uc001xdq.2_Intron	NM_002892	NP_002883	P29374	ARI4A_HUMAN	retinoblastoma-binding protein 1 isoform I	1161					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|lung(1)	6						AGAAAAACATCCGAATTCATC	0.373													G	58832906	C	G	58832906	3	3	24	1	0	0	0	0	1	0	0	0	919	855	30	5	3563	5	ARID4A	14	58832906	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	1157430	58832906	48516634	151	22387											
RTL1	388015	broad.mit.edu	37	chr14	101350961	101350961	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggccactggggggctccttCttttcctgggctgggccgct	16	13	1	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr14:101350961C>A	uc010txj.1	-	1	224	c.165G>T	c.(163-165)AAG>AAT	p.K55N	uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	55										pancreas(1)	1						GGGGCTCCTTCTTTTCCTGGG	0.622													A	101350961	C	A	101350961	3	1	24	1	0	0	0	0	1	0	0	0	13724	912	32	5	3915	5	RTL1	14	101350961	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	42518055	101350961	5998579	152	22388											
OR4N4	283694	broad.mit.edu	37	chr15	22382668	22382668	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctatttatttctgggcaacTtggccttcctggatgcatcc	8	11	2	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr15:22382668T>G	uc001yuc.1	+	7	1177	c.196T>G	c.(196-198)TTG>GTG	p.L66V	LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.L66V	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	66	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTGGGCAACTTGGCCTTCCT	0.468													G	22382668	T	G	22382668	3	3	24	1	0	0	0	0	1	0	0	0	11078	1606	56	5	198	5	OR4N4	15	22382668	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08		22382668	80148724	153	22389											
ACAN	176	broad.mit.edu	37	chr15	89392845	89392845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcctccgctaccccatcGtcaccccaaggcctgcctgc	8	21	1	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr15:89392845G>A	uc010upo.1	+	10	2283	c.1909G>A	c.(1909-1911)GTC>ATC	p.V637I	ACAN_uc002bmx.2_Missense_Mutation_p.V637I|ACAN_uc010upp.1_Missense_Mutation_p.V637I|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	637					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTACCCCATCGTCACCCCAAG	0.692													A	89392845	G	A	89392845	3	1	24	1	0	0	0	0	1	0	0	0	117	1145	40	1	1943	1	ACAN	15	89392845	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	67010177	89392845	13138547	154	22390											
SNX29	92017	broad.mit.edu	37	chr16	12662459	12662459	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccccgggagacccgcaaCgtggagccccagagcggtga	15	15	0	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr16:12662459C>T	uc002dby.3	+	14	1316	c.1260C>T	c.(1258-1260)AAC>AAT	p.N420N		NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	420					cell communication		phosphatidylinositol binding			ovary(1)	1						AGACCCGCAACGTGGAGCCCC	0.697													T	12662459	C	T	12662459	2	4	24	1	0	0	0	0	0	0	0	1	14898	535	19	1		1	SNX29	16	12662459	Silent	SNP	C	TCGA-BR-4369-01A-01D-1158-08		12662459	77692294	155	22391											
GPR139	124274	broad.mit.edu	37	chr16	20043132	20043132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgcagtgtgagtttgcCggcgagatccaggggctact	15	8	0	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr16:20043132C>T	uc002dgu.1	-	2	1149	c.987G>A	c.(985-987)CCG>CCA	p.P329P	GPR139_uc010vaw.1_Silent_p.P236P	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	329	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)	2						GTGAGTTTGCCGGCGAGATCC	0.473													T	20043132	C	T	20043132	2	4	24	1	0	0	0	0	0	0	0	1	6648	639	23	1		1	GPR139	16	20043132	Silent	SNP	C	TCGA-BR-4369-01A-01D-1158-08	7380673	20043132	70311621	156	22392											
ACSM2B	348158	broad.mit.edu	37	chr16	20559473	20559473	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaagaagggactcccctcCagcgaggcagttctgtagat	13	10	1	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr16:20559473C>A	uc002dhj.3	-	9	1219	c.1009G>T	c.(1009-1011)GGA>TGA	p.G337*	ACSM2B_uc002dhk.3_Nonsense_Mutation_p.G337*|ACSM2B_uc010bwf.1_Nonsense_Mutation_p.G337*	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	337					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5						GACTCCCCTCCAGCGAGGCAG	0.522													A	20559473	C	A	20559473	4	1	24	1	0	0	0	0	0	1	0	0	184	603	21	5	752	5	ACSM2B	16	20559473	Nonsense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	516341	20559473	69795280	157	22393											
MMP2	4313	broad.mit.edu	37	chr16	55516874	55516874	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagagctgcaacctgtttgtGctgaaggacacactaaagaa	11	8	0	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr16:55516874G>C	uc002ehz.3	+	2	518	c.207G>C	c.(205-207)GTG>GTC	p.V69V	MMP2_uc010vhd.1_5'UTR|MMP2_uc010ccc.2_Silent_p.V19V	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	69					angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	ACCTGTTTGTGCTGAAGGACA	0.512													C	55516874	G	C	55516874	2	2	24	1	0	0	0	0	0	0	0	1	9658	1306	46	5		5	MMP2	16	55516874	Silent	SNP	G	TCGA-BR-4369-01A-01D-1158-08	34957401	55516874	34837879	158	22394											
ADAT1	23536	broad.mit.edu	37	chr16	75636996	75636996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcacctgagggagtgtgGccacttgtcccttgcaattc	11	12	1	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr16:75636996G>A	uc002feo.1	-	10	1465	c.1363C>T	c.(1363-1365)CCA>TCA	p.P455S	ADAT1_uc002fep.1_Missense_Mutation_p.P306S	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	455	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			ovary(1)|skin(1)	2						AGGGAGTGTGGCCACTTGTCC	0.438													A	75636996	G	A	75636996	3	1	24	1	0	0	0	0	1	0	0	0	284	1203	42	2	153	2	ADAT1	16	75636996	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	20120122	75636996	14717757	159	22395											
GLP2R	9340	broad.mit.edu	37	chr17	9745873	9745873	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttggcagacgatagagaaCgccacggatatttggcagga	13	8	0	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr17:9745873C>T	uc002gmd.1	+	4	444	c.444C>T	c.(442-444)AAC>AAT	p.N148N	GLP2R_uc010cog.1_RNA	NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	148	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				lung(2)|ovary(1)	3					Glucagon recombinant(DB00040)	CGATAGAGAACGCCACGGATA	0.527													T	9745873	C	T	9745873	2	4	24	1	0	0	0	0	0	0	0	1	6453	535	19	1		1	GLP2R	17	9745873	Silent	SNP	C	TCGA-BR-4369-01A-01D-1158-08		9745873	71449337	160	22396											
MYH8	4626	broad.mit.edu	37	chr17	10303964	10303964	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caattccacctgagcagaagTtgccccaccggcttcttcca	7	16	1	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr17:10303964T>A	uc002gmm.2	-	27	3573	c.3478A>T	c.(3478-3480)ACT>TCT	p.T1160S	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1160	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						TGAGCAGAAGTTGCCCCACCG	0.612									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				A	10303964	T	A	10303964	3	1	24	1	0	0	0	0	1	0	0	0	10041	1725	60	5	2391	5	MYH8	17	10303964	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	558091	10303964	70891246	161	22397											
ANKRD13B	124930	broad.mit.edu	37	chr17	27936244	27936244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgctgagccggcttaccGcgcccgtcgtcaccactcag	12	16	2	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr17:27936244G>A	uc002hei.2	+	6	819	c.706G>A	c.(706-708)GCG>ACG	p.A236T	ANKRD13B_uc002heh.2_Missense_Mutation_p.A104T|ANKRD13B_uc002hej.2_RNA	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	236											0						CCGGCTTACCGCGCCCGTCGT	0.632													A	27936244	G	A	27936244	3	1	24	1	0	0	0	0	1	0	0	0	642	1087	38	1	728	1	ANKRD13B	17	27936244	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	17632280	27936244	53258966	162	22398											
ATAD5	79915	broad.mit.edu	37	chr17	29167747	29167747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatagcgatacccttaaggcGctcctctagacatcagacac	7	13	2	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr17:29167747G>A	uc002hfs.1	+	4	2535	c.2189G>A	c.(2188-2190)CGC>CAC	p.R730H	ATAD5_uc002hft.1_Missense_Mutation_p.R627H	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	730					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CCCTTAAGGCGCTCCTCTAGA	0.343													A	29167747	G	A	29167747	3	1	24	1	0	0	0	0	1	0	0	0	1076	1087	38	1	2203	1	ATAD5	17	29167747	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	1231503	29167747	52027463	163	22399											
SRCIN1	80725	broad.mit.edu	37	chr17	36708206	36708206	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccccttgggggtaagagaGgctccttcagctggcccgct	13	15	1	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr17:36708206G>T	uc002hqd.2	-	14	2868	c.2643C>A	c.(2641-2643)GCC>GCA	p.A881A	SRCIN1_uc002hqf.1_Silent_p.A753A|SRCIN1_uc002hqe.2_Silent_p.A735A|SRCIN1_uc002hqg.2_Silent_p.A187A	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	753					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						GGGTAAGAGAGGCTCCTTCAG	0.617													T	36708206	G	T	36708206	2	4	24	1	0	0	0	0	0	0	0	1	15135	987	35	5		5	SRCIN1	17	36708206	Silent	SNP	G	TCGA-BR-4369-01A-01D-1158-08	7540459	36708206	44487004	164	22400											
FMNL1	752	broad.mit.edu	37	chr17	43322779	43322779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcagacagcaagacggCtcaggtgcgccagggctggc	17	12	1	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr17:43322779C>T	uc002iin.2	+	22	3088	c.2888C>T	c.(2887-2889)GCT>GTT	p.A963V	FMNL1_uc002iiq.2_Missense_Mutation_p.A541V|FMNL1_uc010dag.2_RNA|LOC100133991_uc010dah.2_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	963	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						AGCAAGACGGCTCAGGTGCGC	0.632													T	43322779	C	T	43322779	3	4	24	1	0	0	0	0	1	0	0	0	5951	797	28	2	2974	2	FMNL1	17	43322779	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	6614573	43322779	37872431	165	22401											
CA10	56934	broad.mit.edu	37	chr17	50008436	50008436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgttgactggcgactgccGtttccccacagagcaaagat	10	11	0	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr17:50008436G>A	uc002itw.3	-	3	1179	c.193C>T	c.(193-195)CGG>TGG	p.R65W	CA10_uc002itv.3_Missense_Mutation_p.R71W|CA10_uc002itx.3_Missense_Mutation_p.R65W|CA10_uc002ity.3_Missense_Mutation_p.R65W|CA10_uc002itz.2_Missense_Mutation_p.R65W	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	65					brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GGCGACTGCCGTTTCCCCACA	0.473													A	50008436	G	A	50008436	3	1	24	1	0	0	0	0	1	0	0	0	2511	1144	40	1	821	1	CA10	17	50008436	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	6685657	50008436	31186774	166	22402											
DDX42	11325	broad.mit.edu	37	chr17	61889335	61889335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtggagattctccattctgGacctagtaaatggaactggc	11	8	2	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr17:61889335G>A	uc002jbu.2	+	15	1699	c.1442G>A	c.(1441-1443)GGA>GAA	p.G481E	DDX42_uc002jbv.2_Missense_Mutation_p.G481E|DDX42_uc002jbw.1_Missense_Mutation_p.G217E|DDX42_uc002jbx.2_Missense_Mutation_p.G217E|DDX42_uc002jby.2_Missense_Mutation_p.G27E	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	481					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)|large_intestine(1)	5						CTCCATTCTGGACCTAGTAAA	0.448													A	61889335	G	A	61889335	3	1	24	1	0	0	0	0	1	0	0	0	4362	1174	41	4	1492	4	DDX42	17	61889335	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	11880899	61889335	19305875	167	22403											
FASN	2194	broad.mit.edu	37	chr17	80037290	80037290	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggcgccacccgtcttggcGcgcagtagcatcacgttgcc	12	15	2	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr17:80037290G>A	uc002kdu.2	-	42	7458	c.7341C>T	c.(7339-7341)CGC>CGT	p.R2447R	FASN_uc002kdv.1_RNA	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	2447	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCGTCTTGGCGCGCAGTAGCA	0.647													A	80037290	G	A	80037290	2	1	24	1	0	0	0	0	0	0	0	1	5683	1074	38	1		1	FASN	17	80037290	Silent	SNP	G	TCGA-BR-4369-01A-01D-1158-08	18147955	80037290	1157920	168	22404											
EPB41L3	23136	broad.mit.edu	37	chr18	5419834	5419834	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtgatcaagttggtcTgagagatgccttttgttgtg	14	5	2	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr18:5419834T>C	uc002kmt.1	-	12	1468	c.1382A>G	c.(1381-1383)CAG>CGG	p.Q461R	EPB41L3_uc010wzh.1_Missense_Mutation_p.Q479R|EPB41L3_uc002kmu.1_Missense_Mutation_p.Q479R|EPB41L3_uc010dkq.1_Missense_Mutation_p.Q370R|EPB41L3_uc002kms.1_5'UTR|EPB41L3_uc010wze.1_5'UTR|EPB41L3_uc010wzf.1_5'UTR|EPB41L3_uc010wzg.1_5'UTR|EPB41L3_uc010dkr.2_Missense_Mutation_p.Q40R	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	461	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						CAAGTTGGTCTGAGAGATGCC	0.318													C	5419834	T	C	5419834	3	2	24	1	0	0	0	0	1	0	0	0	5154	1580	55	3	1925	3	EPB41L3	18	5419834	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08		5419834	72657414	169	22405											
PSMA8	143471	broad.mit.edu	37	chr18	23759077	23759077	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacttgctataataagaAgaaatcaacctttgaaggta	7	5	1	4			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr18:23759077A>C	uc002kvq.2	+	6	775	c.661A>C	c.(661-663)AGA>CGA	p.R221R	PSMA8_uc002kvo.2_Silent_p.R177R|PSMA8_uc002kvp.2_Silent_p.R215R|PSMA8_uc002kvr.2_Silent_p.R189R	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	proteasome alpha 8 subunit isoform 1	221					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			skin(1)	1	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			TATAATAAGAAGAAATCAACC	0.303													C	23759077	A	C	23759077	2	2	24	1	0	0	0	0	0	0	0	1	12673	64	3	5		5	PSMA8	18	23759077	Silent	SNP	A	TCGA-BR-4369-01A-01D-1158-08	18339243	23759077	54318171	170	22406											
SETBP1	26040	broad.mit.edu	37	chr18	42530045	42530045	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtctggcagagaaactgcaaGcaccagcaagatccccgctc	10	14	1	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr18:42530045G>C	uc010dni.2	+	4	1036	c.740G>C	c.(739-741)AGC>ACC	p.S247T		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	247						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAAACTGCAAGCACCAGCAAG	0.547									Schinzel-Giedion_syndrome				C	42530045	G	C	42530045	3	2	24	1	0	0	0	0	1	0	0	0	14129	971	34	5	943	5	SETBP1	18	42530045	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	18770968	42530045	35547203	171	22407											
MUC16	94025	broad.mit.edu	37	chr19	9084024	9084024	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgaagtctcagtgactacCaaaaggctctcaggagtagc	10	10	3	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr19:9084024C>A	uc002mkp.2	-	1	7995	c.7791G>T	c.(7789-7791)TTG>TTT	p.L2597F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2597	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CAGTGACTACCAAAAGGCTCT	0.453													A	9084024	C	A	9084024	3	1	24	1	0	0	0	0	1	0	0	0	9973	593	21	5	36068	5	MUC16	19	9084024	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08		9084024	50044959	172	22408											
SAMD1	90378	broad.mit.edu	37	chr19	14200075	14200075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctgcaggacggtcactctCgggcacttcagagccctctg	11	15	4	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr19:14200075C>T	uc010xnl.1	-	4	1054	c.1054G>A	c.(1054-1056)GAG>AAG	p.E352K		NM_138352	NP_612361	Q6SPF0	SAMD1_HUMAN	sterile alpha motif domain containing 1	352						cytoplasm|extracellular region					0		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)		CGGTCACTCTCGGGCACTTCA	0.478													T	14200075	C	T	14200075	3	4	24	1	0	0	0	0	1	0	0	0	13814	893	31	1	577	1	SAMD1	19	14200075	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	5116051	14200075	44928908	173	22409											
UPK1A	11045	broad.mit.edu	37	chr19	36166802	36166802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcacgtcagccttccggGcggccactccggaggtggtg	14	14	2	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr19:36166802G>A	uc002oaw.2	+	5	529	c.529G>A	c.(529-531)GCG>ACG	p.A177T	UPK1A_uc010eeh.2_Missense_Mutation_p.A177T|uc002oax.1_5'Flank	NM_007000	NP_008931	O00322	UPK1A_HUMAN	uroplakin 1A	177	Extracellular (Potential).				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity				0	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCCTTCCGGGCGGCCACTCC	0.617													A	36166802	G	A	36166802	3	1	24	1	0	0	0	0	1	0	0	0	17004	1203	42	2	547	2	UPK1A	19	36166802	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	21966727	36166802	22962181	174	22410											
ZNF260	339324	broad.mit.edu	37	chr19	37006121	37006121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctgattcatgctgaagaCtttccaacatgcctatcatg	7	10	3	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr19:37006121C>T	uc002oee.1	-	4	864	c.20G>A	c.(19-21)AGT>AAT	p.S7N	ZNF260_uc002oed.1_Missense_Mutation_p.S4N|ZNF260_uc010eey.1_Missense_Mutation_p.S4N|ZNF260_uc002oef.1_Missense_Mutation_p.S4N	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	7					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)					ATGCTGAAGACTTTCCAACAT	0.343													T	37006121	C	T	37006121	3	4	24	1	0	0	0	0	1	0	0	0	17799	565	20	4	1222	4	ZNF260	19	37006121	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	839319	37006121	22122862	175	22411											
ZNF461	92283	broad.mit.edu	37	chr19	37130918	37130918	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatccctttttggagataacTtctggggctcatctctggat	9	9	3	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr19:37130918T>C	uc002oem.2	-	6	557	c.329A>G	c.(328-330)AAG>AGG	p.K110R	ZNF461_uc002oen.2_Missense_Mutation_p.K79R|ZNF461_uc010xtj.1_Missense_Mutation_p.K87R	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	gonadotropin inducible transcription repressor	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGGAGATAACTTCTGGGGCTC	0.348													C	37130918	T	C	37130918	3	2	24	1	0	0	0	0	1	0	0	0	17922	1609	56	3	1366	3	ZNF461	19	37130918	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	124797	37130918	21998065	176	22412											
GGN	199720	broad.mit.edu	37	chr19	38877004	38877004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaacctctcccaaggggcGagcggctccaggaggcaggg	16	12	1	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr19:38877004G>A	uc002oij.1	-	3	1033	c.898C>T	c.(898-900)CGC>TGC	p.R300C	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.R217C	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	300	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCCAAGGGGCGAGCGGCTCCA	0.692													A	38877004	G	A	38877004	3	1	24	1	0	0	0	0	1	0	0	0	6358	1058	37	1	1068	1	GGN	19	38877004	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	1746086	38877004	20251979	177	22413											
FCGBP	8857	broad.mit.edu	37	chr19	40392045	40392045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacattgctggatgggcaCgcaggcttggccgttgtaga	15	10	0	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr19:40392045C>T	uc002omp.3	-	17	8349	c.8341G>A	c.(8341-8343)GTG>ATG	p.V2781M		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	2781	Cys-rich.|TIL 6.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGATGGGCACGCAGGCTTGG	0.607													T	40392045	C	T	40392045	3	4	24	1	0	0	0	0	1	0	0	0	5778	536	19	1	7956	1	FCGBP	19	40392045	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	1515041	40392045	18736938	178	22414											
GYS1	2997	broad.mit.edu	37	chr19	49489176	49489176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcagcgtggcatgggtGgtgaagatggttgctacagg	17	8	0	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr19:49489176G>A	uc002plp.2	-	4	850	c.609C>T	c.(607-609)ACC>ACT	p.T203T	GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Silent_p.T139T|GYS1_uc010xzz.1_Silent_p.T123T|GYS1_uc010yaa.1_RNA	NM_002103	NP_002094	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle) isoform 1	203					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TGGCATGGGTGGTGAAGATGG	0.612													A	49489176	G	A	49489176	2	1	24	1	0	0	0	0	0	0	0	1	6912	1335	47	4		4	GYS1	19	49489176	Silent	SNP	G	TCGA-BR-4369-01A-01D-1158-08	9097131	49489176	9639807	179	22415											
LILRA1	11024	broad.mit.edu	37	chr19	55107775	55107775	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttccttctgaccaaggcGggagcagctgatgcccccct	10	15	1	2	rs59777368	byFrequency	TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr19:55107775G>A	uc002qgh.1	+	7	1262	c.1080G>A	c.(1078-1080)GCG>GCA	p.A360A	LILRA2_uc010yfg.1_Silent_p.A358A|LILRA1_uc010yfh.1_Silent_p.A360A	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	360	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		TGACCAAGGCGGGAGCAGCTG	0.587													A	55107775	G	A	55107775	2	1	24	1	0	0	0	0	0	0	0	1	8784	1103	39	1		1	LILRA1	19	55107775	Silent	SNP	G	TCGA-BR-4369-01A-01D-1158-08	5618599	55107775	4021208	180	22416											
ZSCAN18	65982	broad.mit.edu	37	chr19	58601615	58601615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcctgggggaggcaaacGccttctccaaaggcaacatc	11	13	1	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr19:58601615G>A	uc002qri.2	-	2	329	c.20C>T	c.(19-21)GCG>GTG	p.A7V	ZSCAN18_uc002qrj.3_Missense_Mutation_p.A7V|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.A7V|ZSCAN18_uc010yht.1_Missense_Mutation_p.A63V|ZSCAN18_uc002qrk.1_Missense_Mutation_p.A7V|ZSCAN18_uc002qrl.2_Missense_Mutation_p.A7V	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	7					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGAGGCAAACGCCTTCTCCAA	0.617													A	58601615	G	A	58601615	3	1	24	1	0	0	0	0	1	0	0	0	18227	1087	38	1	1536	1	ZSCAN18	19	58601615	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	3493840	58601615	527368	181	22417											
KIF16B	55614	broad.mit.edu	37	chr20	16486762	16486762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctccggtggcatctgcaCgctcacttccggcaagatca	11	14	3	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr20:16486762C>T	uc002wpg.1	-	8	931	c.773G>A	c.(772-774)CGT>CAT	p.R258H	KIF16B_uc010gch.1_Missense_Mutation_p.R258H|KIF16B_uc010gci.1_Missense_Mutation_p.R258H|KIF16B_uc010gcj.1_Missense_Mutation_p.R258H	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	258	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						GGCATCTGCACGCTCACTTCC	0.458													T	16486762	C	T	16486762	3	4	24	1	0	0	0	0	1	0	0	0	8278	536	19	1	3256	1	KIF16B	20	16486762	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08		16486762	46538758	182	22418											
MYH7B	57644	broad.mit.edu	37	chr20	33583278	33583278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgacctggccgcccgccGgcgcaagctggaggacgagt	16	15	0	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr20:33583278G>A	uc002xbi.1	+	26	3058	c.2966G>A	c.(2965-2967)CGG>CAG	p.R989Q		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	947	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCCGCCCGCCGGCGCAAGCTG	0.592													A	33583278	G	A	33583278	3	1	24	1	0	0	0	0	1	0	0	0	10040	1116	39	1	3068	1	MYH7B	20	33583278	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	17096516	33583278	29442242	183	22419											
C20orf152	140894	broad.mit.edu	37	chr20	34560665	34560665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagactgctcactggaagCaccctatcttctccttctgg	8	13	4	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr20:34560665C>T	uc002xes.1	+	2	322	c.166C>T	c.(166-168)CAC>TAC	p.H56Y	C20orf152_uc002xer.1_Missense_Mutation_p.H56Y|C20orf152_uc010gfp.1_RNA			Q96M20	CT152_HUMAN	SubName: Full=C20orf152 protein;	56											0	Breast(12;0.00631)					TCACTGGAAGCACCCTATCTT	0.363													T	34560665	C	T	34560665	3	4	24	1	0	0	0	0	1	0	0	0	2092	710	25	2	172	2	C20orf152	20	34560665	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	977387	34560665	28464855	184	22420											
NEURL2	140825	broad.mit.edu	37	chr20	44519034	44519034	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcatgtcggccgtgccAtcggggcgcgggcaaaagag	17	10	0	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr20:44519034A>T	uc002xqg.1	-	1	868	c.597T>A	c.(595-597)GAT>GAA	p.D199E	C20orf165_uc002xqf.2_5'Flank|CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN	neuralized-like protein 2	199	NHR.				intracellular signal transduction						0		Myeloproliferative disorder(115;0.0122)				CGGCCGTGCCATCGGGGCGCG	0.672											OREG0025985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	44519034	A	T	44519034	3	4	24	1	0	0	0	0	1	0	0	0	10346	214	8	5	268	5	NEURL2	20	44519034	Missense_Mutation	SNP	A	TCGA-BR-4369-01A-01D-1158-08	9958369	44519034	18506486	185	22421											
PRIC285	85441	broad.mit.edu	37	chr20	62191324	62191324	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcccgcgtgacagccacattCacttggttggggtccacaac	11	14	1	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr20:62191324C>A	uc002yfm.2	-	19	8674	c.7782G>T	c.(7780-7782)GTG>GTT	p.V2594V	PRIC285_uc002yfl.1_Silent_p.V2025V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	2594					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CAGCCACATTCACTTGGTTGG	0.657													A	62191324	C	A	62191324	2	1	24	1	0	0	0	0	0	0	0	1	12485	813	29	5		5	PRIC285	20	62191324	Silent	SNP	C	TCGA-BR-4369-01A-01D-1158-08	17672290	62191324	834196	186	22422											
GRIK1	2897	broad.mit.edu	37	chr21	31045320	31045320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgcttaaggatttcagCggctgtttcatgtgaacaat	9	8	2	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr21:31045320C>T	uc002yno.1	-	4	1173	c.709G>A	c.(709-711)GCT>ACT	p.A237T	GRIK1_uc002ynn.2_Missense_Mutation_p.A237T|GRIK1_uc011acs.1_Missense_Mutation_p.A237T|GRIK1_uc011act.1_Missense_Mutation_p.A181T|GRIK1_uc010glq.1_Missense_Mutation_p.A95T|GRIK1_uc002ynr.2_Missense_Mutation_p.A237T	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	237	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	AGGATTTCAGCGGCTGTTTCA	0.413													T	31045320	C	T	31045320	3	4	24	1	0	0	0	0	1	0	0	0	6773	768	27	1	2263	1	GRIK1	21	31045320	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08		31045320	17084575	187	22423											
KCNE2	9992	broad.mit.edu	37	chr21	35742989	35742989	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgtggccatcctggtgagcaCtgtgaaatccaagagacggg	14	10	0	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr21:35742989C>G	uc002ytt.1	+	2	352	c.212C>G	c.(211-213)ACT>AGT	p.T71S		NM_172201	NP_751951	Q9Y6J6	KCNE2_HUMAN	potassium voltage-gated channel, Isk-related	71	Cytoplasmic (Potential).				blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity				0						CTGGTGAGCACTGTGAAATCC	0.453													G	35742989	C	G	35742989	3	3	24	1	0	0	0	0	1	0	0	0	8023	565	20	5	214	5	KCNE2	21	35742989	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	4697669	35742989	12386906	188	22424											
COL6A1	1291	broad.mit.edu	37	chr21	47422312	47422312	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgctctgcagccccggcatCcaggtggggtggccaccccc	14	17	1	0			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr21:47422312C>T	uc002zhu.1	+	32	2349	c.2247C>T	c.(2245-2247)ATC>ATT	p.I749I	COL6A1_uc010gqd.1_Silent_p.I80I|COL6A1_uc002zhv.1_Silent_p.I80I|COL6A1_uc002zhw.1_5'Flank	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	749	VWFA 2.|C-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCCCCGGCATCCAGGTGGGGT	0.701													T	47422312	C	T	47422312	2	4	24	1	0	0	0	0	0	0	0	1	3699	845	30	4		4	COL6A1	21	47422312	Silent	SNP	C	TCGA-BR-4369-01A-01D-1158-08	11679323	47422312	707583	189	22425											
RTN4R	65078	broad.mit.edu	37	chr22	20229416	20229416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaacagcctggcctccggcGagggcccgaggtggggaacc	17	13	0	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr22:20229416G>A	uc002zrv.2	-	2	1441	c.1240C>T	c.(1240-1242)CGC>TGC	p.R414C	RTN4R_uc002zru.2_Missense_Mutation_p.R186C	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor precursor	414					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity				0	Colorectal(54;0.0993)					GGCCTCCGGCGAGGGCCCGAG	0.706													A	20229416	G	A	20229416	3	1	24	1	0	0	0	0	1	0	0	0	13730	1058	37	1	185	1	RTN4R	22	20229416	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08		20229416	31075150	190	22426											
CSF2RB	1439	broad.mit.edu	37	chr22	37319374	37319374	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacacccaggatgcccagcgGctcgtcaacgtgaccctcat	10	16	2	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr22:37319374G>T	uc003aqa.3	+	3	382	c.165G>T	c.(163-165)CGG>CGT	p.R55R	CSF2RB_uc003aqc.3_Silent_p.R55R	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	55	Extracellular (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	ATGCCCAGCGGCTCGTCAACG	0.647													T	37319374	G	T	37319374	2	4	24	1	0	0	0	0	0	0	0	1	3935	1190	42	5		5	CSF2RB	22	37319374	Silent	SNP	G	TCGA-BR-4369-01A-01D-1158-08	17089958	37319374	13985192	191	22427											
PICK1	9463	broad.mit.edu	37	chr22	38469813	38469813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtgaaggagatggatgacGaggaatacagctgcattgtg	16	4	0	3			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr22:38469813G>A	uc003auq.2	+	11	1207	c.817G>A	c.(817-819)GAG>AAG	p.E273K	PICK1_uc003aur.2_Missense_Mutation_p.E273K|PICK1_uc003aus.2_Missense_Mutation_p.E273K|PICK1_uc003aut.2_Missense_Mutation_p.E273K	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	protein interacting with C kinase 1	273	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding				0	Melanoma(58;0.045)					GATGGATGACGAGGAATACAG	0.622													A	38469813	G	A	38469813	3	1	24	1	0	0	0	0	1	0	0	0	11881	1059	37	1	855	1	PICK1	22	38469813	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	1150439	38469813	12834753	192	22428											
MKL1	57591	broad.mit.edu	37	chr22	40820311	40820311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcatggctggcaggctgctCgggggataaggcatcgctgc	16	11	1	0	rs138116355		TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr22:40820311C>T	uc003ayv.1	-	5	583	c.376G>A	c.(376-378)GAG>AAG	p.E126K	MKL1_uc003ayw.1_Missense_Mutation_p.E126K|MKL1_uc010gye.1_Missense_Mutation_p.E126K|MKL1_uc010gyf.1_Missense_Mutation_p.E126K	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	126	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GCAGGCTGCTCGGGGGATAAG	0.597			T	RBM15	acute megakaryocytic leukemia								T	40820311	C	T	40820311	3	4	24	1	0	0	0	0	1	0	0	0	9601	893	31	1	2451	1	MKL1	22	40820311	Missense_Mutation	SNP	C	TCGA-BR-4369-01A-01D-1158-08	2350498	40820311	10484255	193	22429											
GPR143	4935	broad.mit.edu	37	chrX	9693809	9693809	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taggtctccatgggttgggaGagcagggtcaccctcatttt	13	9	3	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chrX:9693809G>A	uc004cst.1	-	9	1252	c.1252C>T	c.(1252-1254)CTC>TTC	p.L418F		NM_000273	NP_000264	P51810	GP143_HUMAN	G protein-coupled receptor 143	398	Cytoplasmic (Potential).				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			ovary(1)	1		Hepatocellular(5;0.000888)				TGGGTTGGGAGAGCAGGGTCA	0.473													A	9693809	G	A	9693809	3	1	24	1	0	0	0	0	1	0	0	0	6651	942	33	4	26	4	GPR143	23	9693809	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08		9693809	145576751	194	22430											
CNKSR2	22866	broad.mit.edu	37	chrX	21581553	21581553	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcatgggcactcctgtgccaGagaccacactataccatgta	8	13	1	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chrX:21581553G>A	uc004czx.1	+	13	1627	c.1591G>A	c.(1591-1593)GAG>AAG	p.E531K	CNKSR2_uc004czw.2_Missense_Mutation_p.E531K|CNKSR2_uc011mjn.1_Missense_Mutation_p.E482K|CNKSR2_uc011mjo.1_Missense_Mutation_p.E501K|CNKSR2_uc004czy.2_Missense_Mutation_p.E123K	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	531					regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						TCCTGTGCCAGAGACCACACT	0.393													A	21581553	G	A	21581553	3	1	24	1	0	0	0	0	1	0	0	0	3607	943	33	4	1641	4	CNKSR2	23	21581553	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	11887744	21581553	133689007	195	22431											
DMD	1756	broad.mit.edu	37	chrX	32486747	32486747	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccggctaatttcagagggCgctttcttcgacatctcttt	8	11	3	1	rs72468666		TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chrX:32486747C>T	uc004dda.1	-	23	3274	c.3030G>A	c.(3028-3030)GCG>GCA	p.A1010A	DMD_uc004dcz.2_Silent_p.A887A|DMD_uc004dcy.1_Silent_p.A1006A|DMD_uc004ddb.1_Silent_p.A1002A|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1010	Spectrin 6.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTCAGAGGGCGCTTTCTTCG	0.413													T	32486747	C	T	32486747	2	4	24	1	0	0	0	0	0	0	0	1	4580	755	27	1		1	DMD	23	32486747	Silent	SNP	C	TCGA-BR-4369-01A-01D-1158-08	10905194	32486747	122783813	196	22432											
KIAA2022	340533	broad.mit.edu	37	chrX	73959949	73959949	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattacctcagtttttcaaaAgaagctgtcccagactcatc	5	11	3	2			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chrX:73959949A>G	uc004eby.2	-	3	5060	c.4443T>C	c.(4441-4443)TCT>TCC	p.S1481S		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1481					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						GTTTTTCAAAAGAAGCTGTCC	0.483													G	73959949	A	G	73959949	2	3	24	1	0	0	0	0	0	0	0	1	8269	59	3	3		3	KIAA2022	23	73959949	Silent	SNP	A	TCGA-BR-4369-01A-01D-1158-08	41473202	73959949	81310611	197	22433											
KLHL4	56062	broad.mit.edu	37	chrX	86887303	86887303	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaatttggagtcgcagTtattgataataagctctatg	9	6	2	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chrX:86887303T>G	uc004efb.2	+	7	1600	c.1418T>G	c.(1417-1419)GTT>GGT	p.V473G	KLHL4_uc004efa.2_Missense_Mutation_p.V473G	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	473	Kelch 1.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GGAGTCGCAGTTATTGATAAT	0.403													G	86887303	T	G	86887303	3	3	24	1	0	0	0	0	1	0	0	0	8391	1725	60	5	1444	5	KLHL4	23	86887303	Missense_Mutation	SNP	T	TCGA-BR-4369-01A-01D-1158-08	12927354	86887303	68383257	198	22434											
SLC6A14	11254	broad.mit.edu	37	chrX	115586617	115586617	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgctggtttgtaattacGcctatccttttgattgtaag	9	7	0	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chrX:115586617G>A	uc004eqi.2	+	12	1703	c.1599G>A	c.(1597-1599)ACG>ACA	p.T533T		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid	533	Helical; Name=11; (Potential).				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)|pancreas(1)	3					L-Proline(DB00172)	TTGTAATTACGCCTATCCTTT	0.353													A	115586617	G	A	115586617	2	1	24	1	0	0	0	0	0	0	0	1	14677	1074	38	1		1	SLC6A14	23	115586617	Silent	SNP	G	TCGA-BR-4369-01A-01D-1158-08	28699314	115586617	39683943	199	22435											
ATP1B4	23439	broad.mit.edu	37	chrX	119505008	119505008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttaacttcaacttcaacGtttctgaacccgacacttgg	6	13	3	1			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chrX:119505008G>A	uc004esr.2	+	4	589	c.505G>A	c.(505-507)GTT>ATT	p.V169I	ATP1B4_uc004esq.2_Missense_Mutation_p.V165I|ATP1B4_uc011mtx.1_Missense_Mutation_p.V134I|ATP1B4_uc011mty.1_Missense_Mutation_p.V126I	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	ATPase, (Na+)/K+ transporting, beta 4	169	Perinuclear space (Potential).				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			ovary(1)|skin(1)	2						CAACTTCAACGTTTCTGAACC	0.408													A	119505008	G	A	119505008	3	1	24	1	0	0	0	0	1	0	0	0	1135	1145	40	1	519	1	ATP1B4	23	119505008	Missense_Mutation	SNP	G	TCGA-BR-4369-01A-01D-1158-08	3918391	119505008	35765552	200	22436											
UBE2J2	118424	broad.mit.edu	37	chr1	1190726	1190726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccctgcgaggtttgggaCggcccccggcgcatgcccgt	16	15	0	0	rs115989405	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:1190726C>T	uc001adn.2	-	7	947	c.637G>A	c.(637-639)GTC>ATC	p.V213I	UBE2J2_uc001adm.2_Missense_Mutation_p.V178I|UBE2J2_uc001ado.2_Missense_Mutation_p.V229I|UBE2J2_uc001adp.2_Missense_Mutation_p.V213I|UBE2J2_uc001adq.2_Missense_Mutation_p.V161I|UBE2J2_uc001adr.2_Missense_Mutation_p.V161I|UBE2J2_uc001ads.2_Missense_Mutation_p.V161I	NM_194458	NP_919440	Q8N2K1	UB2J2_HUMAN	ubiquitin conjugating enzyme E2, J2 isoform 3	213	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		AGGTTTGGGACGGCCCCCGGC	0.647													T	1190726	C	T	1190726	3	4	25	1	0	0	0	0	1	0	0	0	16858	536	19	1	146	1	UBE2J2	1	1190726	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08		1190726	248059895	1	22437											
ACAP3	116983	broad.mit.edu	37	chr1	1233229	1233229	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcaactgtcagggctctcGcggtaggcggaggcgatgct	16	10	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:1233229G>A	uc001aeb.2	-	14	1175	c.1101C>T	c.(1099-1101)CGC>CGT	p.R367R	ACAP3_uc001ady.2_Silent_p.R97R|ACAP3_uc001aea.2_Silent_p.R325R	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH	367					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding				0						CAGGGCTCTCGCGGTAGGCGG	0.692													A	1233229	G	A	1233229	2	1	25	1	0	0	0	0	0	0	0	1	120	1074	38	1		1	ACAP3	1	1233229	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	42503	1233229	248017392	2	22438											
CPSF3L	54973	broad.mit.edu	37	chr1	1248444	1248444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctccatctcgagcttccGctgcccgctgaggatcttgt	9	17	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:1248444G>A	uc001aee.1	-	11	1160	c.1102C>T	c.(1102-1104)CGG>TGG	p.R368W	CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.R374W|CPSF3L_uc009vjz.1_Missense_Mutation_p.R346W|CPSF3L_uc010nyj.1_Missense_Mutation_p.R339W|CPSF3L_uc001aeg.1_Missense_Mutation_p.R244W|CPSF3L_uc001aeh.1_Missense_Mutation_p.R267W|CPSF3L_uc001aei.1_Missense_Mutation_p.R270W|CPSF3L_uc001aej.1_Missense_Mutation_p.R195W|CPSF3L_uc001aek.1_Missense_Mutation_p.R110W	NM_017871	NP_060341	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor	368						Golgi apparatus|nucleus	hydrolase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TCGAGCTTCCGCTGCCCGCTG	0.687													A	1248444	G	A	1248444	3	1	25	1	0	0	0	0	1	0	0	0	3827	1086	38	1	728	1	CPSF3L	1	1248444	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	15215	1248444	248002177	3	22439											
DVL1	1855	broad.mit.edu	37	chr1	1275151	1275151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcccgcagcacccgcacGgcatcgtcattgctcatgtt	8	16	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:1275151G>A	uc001aer.3	-	9	998	c.951C>T	c.(949-951)GCC>GCT	p.A317A	DVL1_uc002quu.2_Silent_p.A34A|DVL1_uc009vka.2_5'UTR|DVL1_uc001aeu.1_Missense_Mutation_p.P4L	NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	317	PDZ.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCACCCGCACGGCATCGTCAT	0.657													A	1275151	G	A	1275151	2	1	25	1	0	0	0	0	0	0	0	1	4835	1103	39	1		1	DVL1	1	1275151	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	26707	1275151	247975470	4	22440											
NADK	65220	broad.mit.edu	37	chr1	1687734	1687734	+	Frame_Shift_Del	DEL	C	C	-													cgtacagcagcgtcccgtctCcccccaggcagatgatgaag							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:1687733_1687733TC>T	uc001aic.3	-	5	771	c.549_549GA>A	c.(547-549)ggafs	p.G183fs	NADK_uc001aid.4_Frame_Shift_Del_p.G183fs|NADK_uc001aie.3_Frame_Shift_Del_p.G328fs|NADK_uc010nyv.2_Frame_Shift_Del_p.G151fs|NADK_uc009vkx.1_Frame_Shift_Del_p.G61fs	NM_023018	NP_075394	O95544	NADK_HUMAN	Homo sapiens NAD kinase (NADK), transcript variant 1, mRNA.	183					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ kinase activity|metal ion binding|protein binding	p.G183R(1)		NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GCGTCCCGTCTCCCCCCAGGC	0.522													-	1687734	C	-	1687734	7	5	25	1	0	1	0	1	0	0	0	0	10137	855	30	0	820	0	NADK	1	1687734	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	412583	1687734	247562887	5	22441											
ACTRT2	140625	broad.mit.edu	37	chr1	2939191	2939191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccacgggctggatgaccGgcttctcaaggagctggagc	15	11	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:2939191G>A	uc001ajz.2	+	1	1146	c.941G>A	c.(940-942)CGG>CAG	p.R314Q		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	314						cytoplasm|cytoskeleton					0	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CTGGATGACCGGCTTCTCAAG	0.602													A	2939191	G	A	2939191	3	1	25	1	0	0	0	0	1	0	0	0	219	1116	39	1	943	1	ACTRT2	1	2939191	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1251457	2939191	246311430	6	22442											
PRDM16	63976	broad.mit.edu	37	chr1	3328020	3328020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggatgcacgccgactgccGcacgcagatcaagtgcaagg	14	13	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:3328020G>A	uc001akf.2	+	9	1339	c.1259G>A	c.(1258-1260)CGC>CAC	p.R420H	PRDM16_uc001akc.2_Missense_Mutation_p.R420H|PRDM16_uc001akd.2_Missense_Mutation_p.R420H|PRDM16_uc001ake.2_Missense_Mutation_p.R420H|PRDM16_uc009vlh.2_Missense_Mutation_p.R121H	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	420					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCCGACTGCCGCACGCAGATC	0.572			T	EVI1	MDS|AML								A	3328020	G	A	3328020	3	1	25	1	0	0	0	0	1	0	0	0	12457	1087	38	1	1293	1	PRDM16	1	3328020	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	388829	3328020	245922601	7	22443											
MEGF6	1953	broad.mit.edu	37	chr1	3424477	3424477	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttcttcccaaaggtgtcCggaggacaagctacaaagaa	10	10	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:3424477C>T	uc001akl.2	-	14	1898	c.1671G>A	c.(1669-1671)CCG>CCA	p.P557P	MEGF6_uc001akk.2_Silent_p.P452P	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	557						extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CAAAGGTGTCCGGAGGACAAG	0.602													T	3424477	C	T	3424477	2	4	25	1	0	0	0	0	0	0	0	1	9462	639	23	1		1	MEGF6	1	3424477	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	96457	3424477	245826144	8	22444											
MEGF6	1953	broad.mit.edu	37	chr1	3425231	3425231	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtcaagctgcagtcatgGccaaaggagtcatccaggca	12	11	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:3425231G>A	uc001akl.2	-	13	1778	c.1551C>T	c.(1549-1551)GGC>GGT	p.G517G	MEGF6_uc001akk.2_Silent_p.G412G	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	517	EGF-like 9.					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TGCAGTCATGGCCAAAGGAGT	0.642													A	3425231	G	A	3425231	2	1	25	1	0	0	0	0	0	0	0	1	9462	1190	42	2		2	MEGF6	1	3425231	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	754	3425231	245825390	9	22445											
MEGF6	1953	broad.mit.edu	37	chr1	3432062	3432062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacagtggtgctggcagcCgccattgcccagggcgcagg	16	13	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:3432062C>T	uc001akl.2	-	6	861	c.634G>A	c.(634-636)GGC>AGC	p.G212S	MEGF6_uc001akk.2_Missense_Mutation_p.G107S	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	212	EGF-like 3.					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TGCTGGCAGCCGCCATTGCCC	0.647													T	3432062	C	T	3432062	3	4	25	1	0	0	0	0	1	0	0	0	9462	652	23	1	4119	1	MEGF6	1	3432062	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	6831	3432062	245818559	10	22446											
PLEKHG5	57449	broad.mit.edu	37	chr1	6533156	6533156	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtcatggtcgaagcgcaGcccccggggcagcctgggca	17	13	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:6533156G>A	uc001ano.1	-	10	1143	c.1042C>T	c.(1042-1044)CTG>TTG	p.L348L	PLEKHG5_uc001ann.1_Silent_p.L329L|PLEKHG5_uc001anq.1_Silent_p.L369L|PLEKHG5_uc001anp.1_Silent_p.L369L|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_Silent_p.L132L|PLEKHG5_uc010nzr.1_Silent_p.L361L|PLEKHG5_uc001ank.1_Silent_p.L292L|PLEKHG5_uc009vmb.1_Silent_p.L292L|PLEKHG5_uc001anl.1_Silent_p.L292L|PLEKHG5_uc001anm.1_Silent_p.L292L	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	348					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TCGAAGCGCAGCCCCCGGGGC	0.617													A	6533156	G	A	6533156	2	1	25	1	0	0	0	0	0	0	0	1	12073	962	34	2		2	PLEKHG5	1	6533156	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3101094	6533156	242717465	11	22447											
TAS1R1	80835	broad.mit.edu	37	chr1	6634730	6634730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagacgctcagcgtgaagCggcagtatccctctttcctg	12	13	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:6634730C>T	uc001ant.2	+	3	538	c.538C>T	c.(538-540)CGG>TGG	p.R180W	TAS1R1_uc001anu.2_Intron|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_Missense_Mutation_p.R180W	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	180	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)		CAGCGTGAAGCGGCAGTATCC	0.453													T	6634730	C	T	6634730	3	4	25	1	0	0	0	0	1	0	0	0	15559	759	27	1	548	1	TAS1R1	1	6634730	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	101574	6634730	242615891	12	22448											
CAMTA1	23261	broad.mit.edu	37	chr1	7723546	7723546	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtgtcggagggcaagcaCgagcacagccacagcaaggg	16	11	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:7723546C>T	uc001aoi.2	+	9	1146	c.939C>T	c.(937-939)CAC>CAT	p.H313H		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGGGCAAGCACGAGCACAGCC	0.652													T	7723546	C	T	7723546	2	4	25	1	0	0	0	0	0	0	0	1	2613	535	19	1		1	CAMTA1	1	7723546	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1088816	7723546	241527075	13	22449											
RERE	473	broad.mit.edu	37	chr1	8416191	8416191	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgaagcatctcgtgctcGtgtgggggctgtccaagcag	16	10	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:8416191G>A	uc001ape.2	-	22	5265	c.4455C>T	c.(4453-4455)CAC>CAT	p.H1485H	RERE_uc001apf.2_Silent_p.H1485H|RERE_uc001apd.2_Silent_p.H931H	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1485	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TCTCGTGCTCGTGTGGGGGCT	0.662													A	8416191	G	A	8416191	2	1	25	1	0	0	0	0	0	0	0	1	13231	1136	40	1		1	RERE	1	8416191	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	692645	8416191	240834430	14	22450											
PIK3CD	5293	broad.mit.edu	37	chr1	9781845	9781845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcacgtgccgtcggtggCcctgcgcttcggcctcatcc	13	16	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:9781845C>T	uc001aqb.3	+	16	2190	c.1982C>T	c.(1981-1983)GCC>GTC	p.A661V	PIK3CD_uc010oaf.1_Missense_Mutation_p.A660V|PIK3CD_uc001aqe.3_Missense_Mutation_p.A685V	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	661					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(4)|skin(2)|central_nervous_system(1)	7	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CCGTCGGTGGCCCTGCGCTTC	0.687											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	9781845	C	T	9781845	3	4	25	1	0	0	0	0	1	0	0	0	11915	739	26	2	2036	2	PIK3CD	1	9781845	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1365654	9781845	239468776	15	22451											
CLSTN1	22883	broad.mit.edu	37	chr1	9795563	9795563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagtctgcgaattccgggCgtggggaactgccgggagtt	17	8	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:9795563C>T	uc001aqh.2	-	13	2604	c.1845G>A	c.(1843-1845)ACG>ACA	p.T615T	CLSTN1_uc001aqi.2_Silent_p.T605T|CLSTN1_uc010oag.1_Silent_p.T596T|CLSTN1_uc001aqf.2_5'Flank	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	615	Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GAATTCCGGGCGTGGGGAACT	0.502													T	9795563	C	T	9795563	2	4	25	1	0	0	0	0	0	0	0	1	3561	755	27	1		1	CLSTN1	1	9795563	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	13718	9795563	239455058	16	22452											
UBE4B	10277	broad.mit.edu	37	chr1	10211398	10211398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagatactctccccaggCgctttatgagccctgtactc	8	14	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:10211398C>T	uc001aqs.3	+	21	3418	c.2705C>T	c.(2704-2706)GCG>GTG	p.A902V	UBE4B_uc001aqr.3_Missense_Mutation_p.A773V|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.A357V|UBE4B_uc001aqt.1_Missense_Mutation_p.A242V	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	902					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TCTCCCCAGGCGCTTTATGAG	0.473													T	10211398	C	T	10211398	3	4	25	1	0	0	0	0	1	0	0	0	16880	768	27	1	2787	1	UBE4B	1	10211398	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	415835	10211398	239039223	17	22453											
MTOR	2475	broad.mit.edu	37	chr1	11184640	11184640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcacacgctcatcctggcGcagatcttcatggcctttta	7	14	4	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:11184640G>A	uc001asd.2	-	47	6698	c.6577C>T	c.(6577-6579)CGC>TGC	p.R2193C	MTOR_uc001asc.2_Missense_Mutation_p.R398C	NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	2193	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						TCATCCTGGCGCAGATCTTCA	0.507													A	11184640	G	A	11184640	3	1	25	1	0	0	0	0	1	0	0	0	9954	1087	38	1	1120	1	MTOR	1	11184640	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	973242	11184640	238065981	18	22454											
MTOR	2475	broad.mit.edu	37	chr1	11204707	11204707	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttctaccaagctcacctGcagtctctcccaccagatct	5	17	4	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:11204707G>A	uc001asd.2	-	34	4991	c.4870C>T	c.(4870-4872)CAG>TAG	p.Q1624*		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	1624	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						AAGCTCACCTGCAGTCTCTCC	0.582													A	11204707	G	A	11204707	4	1	25	1	0	0	0	0	0	1	0	0	9954	1328	46	2	2879	2	MTOR	1	11204707	Nonsense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	20067	11204707	238045914	19	22455											
UQCRHL	440567	broad.mit.edu	37	chr1	16134105	16134105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcctcctcaggatctcCggattcggtaagcatctttt	7	13	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:16134105C>T	uc009vol.1	-	1	90	c.40G>A	c.(40-42)GGA>AGA	p.G14R		NM_001089591	NP_001083060			ubiquinol-cytochrome c reductase hinge												0						tcAGGATCTCCGGATTCGGTA	0.413													T	16134105	C	T	16134105	3	4	25	1	0	0	0	0	1	0	0	0	17020	661	23	1	239	1	UQCRHL	1	16134105	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	4929398	16134105	233116516	20	22456											
SPEN	23013	broad.mit.edu	37	chr1	16260214	16260214	+	Frame_Shift_Del	DEL	C	C	-													ggggggatcccacaccagagCccccctactaaggtgacaga							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:16260213_16260213GC>G	uc001axk.1	+	10	7682	c.7478_7478GC>G	c.(7477-7479)agcfs	p.S2493fs	SPEN_uc010obp.1_Frame_Shift_Del_p.S2452fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2493	Pro-rich.|RID.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCACACCAGAGCCCCCCTACT	0.592													-	16260214	C	-	16260214	7	5	25	1	0	1	0	1	0	0	0	0	15037	738	26	0	7521	0	SPEN	1	16260214	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	126109	16260214	232990407	21	22457											
C1orf151	440574	broad.mit.edu	37	chr1	19923596	19923596	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtctggcggatgcggtcgtGaagataggtaaggggctttt	17	5	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:19923596G>T	uc001bci.1	+	1	130	c.57G>T	c.(55-57)GTG>GTT	p.V19V	C1orf151_uc001bch.1_RNA|NBL1_uc009vpl.1_5'UTR	NM_001032363	NP_001027535	Q5TGZ0	CA151_HUMAN	chromosome 1 open reading frame 151 protein	19	Helical; (Potential).					integral to membrane|mitochondrion				central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000323)|Lung NSC(340;0.000401)|Breast(348;0.00043)|Ovarian(437;0.00374)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.58e-05)|Kidney(64;0.000191)|GBM - Glioblastoma multiforme(114;0.000696)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		ATGCGGTCGTGAAGATAGGTA	0.692													T	19923596	G	T	19923596	2	4	25	1	0	0	0	0	0	0	0	1	2005	1277	45	5		5	C1orf151	1	19923596	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3663382	19923596	229327025	22	22458											
RAP1GAP	5909	broad.mit.edu	37	chr1	21937954	21937954	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaggctacctgctgggcGtccccttccgtgtatggcag	13	15	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:21937954G>A	uc001bex.2	-	13	1092	c.834C>T	c.(832-834)GAC>GAT	p.D278D	RAP1GAP_uc001bev.2_Silent_p.D278D|RAP1GAP_uc001bew.2_Silent_p.D342D|RAP1GAP_uc001bey.2_Silent_p.D278D	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform c	278	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CCTGCTGGGCGTCCCCTTCCG	0.617													A	21937954	G	A	21937954	2	1	25	1	0	0	0	0	0	0	0	1	13037	1136	40	1		1	RAP1GAP	1	21937954	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2014358	21937954	227312667	23	22459											
ARID1A	8289	broad.mit.edu	37	chr1	27101268	27101268	+	Frame_Shift_Del	DEL	C	C	-													caggcagagcacgggctctgCcccccagggccccgcctatc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:27101267_27101267GC>G	uc001bmv.1	+	17	4922	c.4549_4549GC>G	c.(4549-4551)gccfs	p.A1517fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.A1516fs|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Frame_Shift_Del_p.A1134fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.A363fs|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1517					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CACGGGCTCTGCCCCCCAGGG	0.587			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27101268	C	-	27101268	7	5	25	1	0	1	0	1	0	0	0	0	913	739	26	0	4620	0	ARID1A	1	27101268	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	5163314	27101268	222149353	24	22460											
ARID1A	8289	broad.mit.edu	37	chr1	27106648	27106648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgcctgcctgtcctggacGgactcctacactgggcagtt	11	13	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:27106648G>A	uc001bmv.1	+	20	6632	c.6259G>A	c.(6259-6261)GGA>AGA	p.G2087R	ARID1A_uc001bmu.1_Missense_Mutation_p.G1870R|ARID1A_uc001bmx.1_Missense_Mutation_p.G933R|ARID1A_uc009vsm.1_Missense_Mutation_p.G415R|ARID1A_uc009vsn.1_Missense_Mutation_p.G329R	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2087	LXXLL.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGTCCTGGACGGACTCCTACA	0.592			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								A	27106648	G	A	27106648	3	1	25	1	0	0	0	0	1	0	0	0	913	1117	39	1	6337	1	ARID1A	1	27106648	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	5380	27106648	222143973	25	22461											
PIGV	55650	broad.mit.edu	37	chr1	27121087	27121087	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggcagctggagaggggcCgagtctggactagtgtactc	18	8	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:27121087C>T	uc001bmz.2	+	3	893	c.562C>T	c.(562-564)CGA>TGA	p.R188*	PIGV_uc001bmy.2_Intron|PIGV_uc009vso.2_Nonsense_Mutation_p.R188*|PIGV_uc010ofg.1_Intron|PIGV_uc001bna.2_Nonsense_Mutation_p.R188*	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan class V	188	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			ovary(1)	1		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		GGAGAGGGGCCGAGTCTGGAC	0.552													T	27121087	C	T	27121087	4	4	25	1	0	0	0	0	0	1	0	0	11901	644	23	1	568	1	PIGV	1	27121087	Nonsense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	14439	27121087	222129534	26	22462											
PTPRU	10076	broad.mit.edu	37	chr1	29586039	29586039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgttccagtgcatggccgCgggcagagcggccgaggccg	18	13	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:29586039C>T	uc001bru.2	+	5	748	c.638C>T	c.(637-639)GCG>GTG	p.A213V	PTPRU_uc001brv.2_Missense_Mutation_p.A213V|PTPRU_uc001brw.2_Missense_Mutation_p.A213V|PTPRU_uc009vtq.2_Missense_Mutation_p.A213V|PTPRU_uc009vtr.2_Missense_Mutation_p.A213V	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	213	Extracellular (Potential).|Ig-like C2-type.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCATGGCCGCGGGCAGAGCG	0.687													T	29586039	C	T	29586039	3	4	25	1	0	0	0	0	1	0	0	0	12813	768	27	1	656	1	PTPRU	1	29586039	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2464952	29586039	219664582	27	22463											
SPOCD1	90853	broad.mit.edu	37	chr1	32280324	32280324	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctccatttctttcttaccCtcacagggactgggtctggt	8	13	4	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:32280324C>A	uc001bts.1	-	2	669	c.611G>T	c.(610-612)AGG>ATG	p.R204M	SPOCD1_uc001btu.2_Missense_Mutation_p.R204M|SPOCD1_uc001btv.2_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	204					transcription, DNA-dependent					ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTTTCTTACCCTCACAGGGAC	0.577													A	32280324	C	A	32280324	3	1	25	1	0	0	0	0	1	0	0	0	15077	681	24	5	3099	5	SPOCD1	1	32280324	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2694285	32280324	216970297	28	22464											
THRAP3	9967	broad.mit.edu	37	chr1	36752135	36752135	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggggccaatataaccgaGgaggctatggaaactaccgc	12	10	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:36752135G>T	uc001cae.3	+	4	528	c.304G>T	c.(304-306)GGA>TGA	p.G102*	THRAP3_uc001caf.3_Nonsense_Mutation_p.G102*|THRAP3_uc001cag.1_Nonsense_Mutation_p.G102*	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	102	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATATAACCGAGGAGGCTATGG	0.517			T	USP6	aneurysmal bone cysts								T	36752135	G	T	36752135	4	4	25	1	0	0	0	0	0	1	0	0	15871	1001	35	5	310	5	THRAP3	1	36752135	Nonsense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	4471811	36752135	212498486	29	22465											
THRAP3	9967	broad.mit.edu	37	chr1	36756997	36756997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagtggcttattggctcagGaacgcaagctttgccgagat	12	10	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:36756997G>A	uc001cae.3	+	6	1992	c.1768G>A	c.(1768-1770)GAA>AAA	p.E590K	THRAP3_uc001caf.3_Missense_Mutation_p.E590K	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	590					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATTGGCTCAGGAACGCAAGCT	0.423			T	USP6	aneurysmal bone cysts								A	36756997	G	A	36756997	3	1	25	1	0	0	0	0	1	0	0	0	15871	1175	41	4	1782	4	THRAP3	1	36756997	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	4862	36756997	212493624	30	22466											
EPHA10	284656	broad.mit.edu	37	chr1	38185238	38185238	+	Frame_Shift_Del	DEL	G	G	-													agaaggttaggacagttcctGgggggtggcagccggaagcc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:38185237_38185237TG>T	uc009vvi.3	-	14	2691	c.2605_2605CA>A	c.(2605-2607)aggfs	p.R869fs	EPHA10_uc001cbt.3_Non-coding_Transcript|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	869	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGACAGTTCCTGGGGGGTGGC	0.612													-	38185238	G	-	38185238	7	5	25	1	0	1	0	1	0	0	0	0	5166	1335	47	0	434	0	EPHA10	1	38185238	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	1428241	38185238	211065383	31	22467											
CAP1	10487	broad.mit.edu	37	chr1	40533259	40533259	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccatctggaccctctgcCggatcatgtcctcctccccc	7	20	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:40533259C>T	uc001cfa.3	+	8	907	c.678C>T	c.(676-678)GCC>GCT	p.A226A	CAP1_uc001cey.3_Silent_p.A226A|CAP1_uc001cez.3_Silent_p.A226A|CAP1_uc009vvz.2_Silent_p.A226A|CAP1_uc010oje.1_Silent_p.A143A	NM_006367	NP_006358	Q01518	CAP1_HUMAN	adenylyl cyclase-associated protein	226	Ala/Pro/Ser-rich.				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			ovary(1)	1	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACCCTCTGCCGGATCATGTC	0.572													T	40533259	C	T	40533259	2	4	25	1	0	0	0	0	0	0	0	1	2619	639	23	1		1	CAP1	1	40533259	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2348021	40533259	208717362	32	22468											
SCMH1	22955	broad.mit.edu	37	chr1	41582667	41582667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacatgggccaagaagacGcattcagccgaaatcctgca	11	11	1	2	rs140656390	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:41582667G>A	uc001cgo.2	-	7	709	c.398C>T	c.(397-399)GCG>GTG	p.A133V	SCMH1_uc010ojr.1_Intron|SCMH1_uc001cgp.2_Missense_Mutation_p.A72V|SCMH1_uc001cgr.2_Missense_Mutation_p.A72V|SCMH1_uc001cgs.2_Missense_Mutation_p.A143V|SCMH1_uc001cgt.2_Missense_Mutation_p.A72V|SCMH1_uc001cgq.2_Missense_Mutation_p.A86V|SCMH1_uc010ojs.1_RNA	NM_001031694	NP_001026864	Q96GD3	SCMH1_HUMAN	sex comb on midleg 1 isoform 1	133					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CCAAGAAGACGCATTCAGCCG	0.383													A	41582667	G	A	41582667	3	1	25	1	0	0	0	0	1	0	0	0	13908	1087	38	1	1624	1	SCMH1	1	41582667	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1049408	41582667	207667954	33	22469											
KIAA0467	23334	broad.mit.edu	37	chr1	43908512	43908512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaacccattcctgctgcCgaccatggaagtggagaccc	10	15	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:43908512C>T	uc001cjk.1	+	44	5939	c.5477C>T	c.(5476-5478)CCG>CTG	p.P1826L		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2725						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTCCTGCTGCCGACCATGGAA	0.612													T	43908512	C	T	43908512	3	4	25	1	0	0	0	0	1	0	0	0	8178	652	23	1	5643	1	KIAA0467	1	43908512	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2325845	43908512	205342109	34	22470											
PTPRF	5792	broad.mit.edu	37	chr1	44084972	44084972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcagcgcgggcgtgggcCgcaccggctgcttcatcgtg	16	15	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:44084972C>T	uc001cjr.2	+	28	5000	c.4660C>T	c.(4660-4662)CGC>TGC	p.R1554C	PTPRF_uc001cjs.2_Missense_Mutation_p.R1545C|PTPRF_uc001cju.2_Missense_Mutation_p.R943C|PTPRF_uc009vwt.2_Missense_Mutation_p.R1114C|PTPRF_uc001cjv.2_Missense_Mutation_p.R1025C|PTPRF_uc001cjw.2_Missense_Mutation_p.R780C	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1554	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).|Substrate binding (By similarity).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGGCGTGGGCCGCACCGGCTG	0.642													T	44084972	C	T	44084972	3	4	25	1	0	0	0	0	1	0	0	0	12801	652	23	1	4762	1	PTPRF	1	44084972	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	176460	44084972	205165649	35	22471											
IPO13	9670	broad.mit.edu	37	chr1	44429947	44429947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattatattttagggcccaGggatcatcctgatattgttg	9	6	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:44429947G>A	uc001ckx.2	+	15	3146	c.2351G>A	c.(2350-2352)AGG>AAG	p.R784K	IPO13_uc001cky.2_5'Flank	NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	784					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TTAGGGCCCAGGGATCATCCT	0.378													A	44429947	G	A	44429947	3	1	25	1	0	0	0	0	1	0	0	0	7794	1000	35	4	2409	4	IPO13	1	44429947	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	344975	44429947	204820674	36	22472											
PLK3	1263	broad.mit.edu	37	chr1	45271288	45271288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcggcagctgggctgctctCcagacctgcggcagcgactc	13	15	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:45271288C>T	uc001cmn.2	+	15	1979	c.1879C>T	c.(1879-1881)CCA>TCA	p.P627S	PLK3_uc001cmo.2_RNA|BTBD19_uc010old.1_5'Flank|BTBD19_uc010ole.1_5'Flank	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	627	POLO box 2.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity				0	Acute lymphoblastic leukemia(166;0.155)					GGGCTGCTCTCCAGACCTGCG	0.637													T	45271288	C	T	45271288	3	4	25	1	0	0	0	0	1	0	0	0	12097	855	30	4	1937	4	PLK3	1	45271288	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	841341	45271288	203979333	37	22473											
HECTD3	79654	broad.mit.edu	37	chr1	45470328	45470328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttggatgaaacgagaacGgtccccatatcccacgacga	10	12	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:45470328G>A	uc009vxk.2	-	16	2184	c.2086C>T	c.(2086-2088)CGT>TGT	p.R696C	HECTD3_uc001cmx.3_Missense_Mutation_p.R45C|HECTD3_uc001cmy.3_Missense_Mutation_p.R306C|HECTD3_uc010olh.1_Missense_Mutation_p.R412C	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	696	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)					AAACGAGAACGGTCCCCATAT	0.557													A	45470328	G	A	45470328	3	1	25	1	0	0	0	0	1	0	0	0	7041	1116	39	1	523	1	HECTD3	1	45470328	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	199040	45470328	203780293	38	22474											
C1orf190	541468	broad.mit.edu	37	chr1	46669228	46669228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaacctctggcgccctgCtgctcccaggggcgtctagc	14	15	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:46669228C>T	uc010oma.1	+	1	223	c.130C>T	c.(130-132)CTG>TTG	p.L44L	POMGNT1_uc001cpg.2_Intron|POMGNT1_uc001cpf.2_Intron	NM_001013615	NP_001013633	Q96LR2	CA190_HUMAN	hypothetical protein LOC541468	44					positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm				ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(166;0.155)					TGGCGCCCTGCTGCTCCCAGG	0.652													T	46669228	C	T	46669228	2	4	25	1	0	0	0	0	0	0	0	1	2023	796	28	2		2	C1orf190	1	46669228	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1198900	46669228	202581393	39	22475											
SLC5A9	200010	broad.mit.edu	37	chr1	48705022	48705022	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggggcctcgtgtttggccTgggagtggggcttctgcgta	18	9	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:48705022T>C	uc001cro.2	+	12	1542	c.1490T>C	c.(1489-1491)CTG>CCG	p.L497P	SLC5A9_uc001crn.2_Missense_Mutation_p.L522P|SLC5A9_uc010omt.1_Missense_Mutation_p.L511P|SLC5A9_uc001crp.2_Missense_Mutation_p.L164P|SLC5A9_uc010omu.1_Missense_Mutation_p.L164P|SLC5A9_uc009vyt.1_RNA	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	497	Helical; (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3						GTGTTTGGCCTGGGAGTGGGG	0.587													C	48705022	T	C	48705022	3	2	25	1	0	0	0	0	1	0	0	0	14672	1580	55	3	1615	3	SLC5A9	1	48705022	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	2035794	48705022	200545599	40	22476											
ZFYVE9	9372	broad.mit.edu	37	chr1	52800392	52800392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttctttgtgttcagtggcGctctgaaatcctcttctgga	10	9	5	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:52800392G>A	uc001cto.2	+	15	3794	c.3622G>A	c.(3622-3624)GCT>ACT	p.A1208T	ZFYVE9_uc001ctp.2_Missense_Mutation_p.A1149T	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	1208					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						GTTCAGTGGCGCTCTGAAATC	0.383													A	52800392	G	A	52800392	3	1	25	1	0	0	0	0	1	0	0	0	17668	1087	38	1	3683	1	ZFYVE9	1	52800392	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	4095370	52800392	196450229	41	22477											
C1orf175	374977	broad.mit.edu	37	chr1	55167778	55167778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggcacgagaggtcgtgCgctcctcctgcatcaacctg	11	16	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:55167778C>T	uc010ooe.1	+	20	3625	c.3301C>T	c.(3301-3303)CGC>TGC	p.R1101C	C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.R619C|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_Missense_Mutation_p.R303C	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	1101	HEAT 3.					integral to membrane	binding				0						AGAGGTCGTGCGCTCCTCCTG	0.617													T	55167778	C	T	55167778	3	4	25	1	0	0	0	0	1	0	0	0	2016	768	27	1	3371	1	C1orf175	1	55167778	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2367386	55167778	194082843	42	22478											
L1TD1	54596	broad.mit.edu	37	chr1	62675694	62675694	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagggctggaggaggaAgaagaagaagaggcttcagg	17	7	2	4			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:62675694A>G	uc001dae.3	+	4	1550	c.1248A>G	c.(1246-1248)GAA>GAG	p.E416E		NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	416	Glu-rich.									ovary(1)|skin(1)	2						tggaggaggaagaagaagaag	0.249													G	62675694	A	G	62675694	2	3	25	1	0	0	0	0	0	0	0	1	8589	69	3	3		3	L1TD1	1	62675694	Silent	SNP	A	TCGA-BR-4370-01A-01D-1158-08	7507916	62675694	186574927	43	22479											
ATG4C	84938	broad.mit.edu	37	chr1	63329809	63329809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattaaaaagatttagcacGgaagagtttgtcttgcttta	8	5	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:63329809G>A	uc001dat.2	+	11	1518	c.1356G>A	c.(1354-1356)ACG>ACA	p.T452T	ATG4C_uc001dau.2_Silent_p.T452T	NM_178221	NP_835739	Q96DT6	ATG4C_HUMAN	APG4 autophagy 4 homolog C isoform 8	452					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity			ovary(1)	1						GATTTAGCACGGAAGAGTTTG	0.318													A	63329809	G	A	63329809	2	1	25	1	0	0	0	0	0	0	0	1	1098	1103	39	1		1	ATG4C	1	63329809	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	654115	63329809	185920812	44	22480											
UBE2U	148581	broad.mit.edu	37	chr1	64707368	64707368	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatttcattggacagtattAcaaatggaagaaaatggatc	8	4	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:64707368A>G	uc001dbn.1	+	8	873	c.629A>G	c.(628-630)TAC>TGC	p.Y210C		NM_152489	NP_689702	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	210							ATP binding|protein binding|ubiquitin-protein ligase activity				0						GGACAGTATTACAAATGGAAG	0.264													G	64707368	A	G	64707368	3	3	25	1	0	0	0	0	1	0	0	0	16871	391	14	3	659	3	UBE2U	1	64707368	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	1377559	64707368	184543253	45	22481											
DNAJC6	9829	broad.mit.edu	37	chr1	65858399	65858399	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaactactgagtgacctgtTtgggggtggaggtgcagctg	17	6	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:65858399T>G	uc001dcd.1	+	12	1747	c.1583T>G	c.(1582-1584)TTT>TGT	p.F528C	DNAJC6_uc001dcc.1_Missense_Mutation_p.F559C|DNAJC6_uc010opc.1_Missense_Mutation_p.F515C|DNAJC6_uc001dce.1_Missense_Mutation_p.F585C	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	528	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						AGTGACCTGTTTGGGGGTGGA	0.572													G	65858399	T	G	65858399	3	3	25	1	0	0	0	0	1	0	0	0	4653	1841	64	5	1629	5	DNAJC6	1	65858399	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	1151031	65858399	183392222	46	22482											
MIER1	57708	broad.mit.edu	37	chr1	67442326	67442326	+	Frame_Shift_Del	DEL	A	A	-													tagcattctattacatgtggAaaaaatctgaacgttatgat							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:67442325_67442325GA>G	uc001dde.2	+	11	1283	c.1149_1149GA>G	c.(1147-1149)tggfs	p.W383fs	MIER1_uc010opf.1_Frame_Shift_Del_p.W347fs|MIER1_uc009way.2_Frame_Shift_Del_p.W347fs|MIER1_uc010opg.1_Frame_Shift_Del_p.W347fs|MIER1_uc001ddf.2_Frame_Shift_Del_p.W347fs|MIER1_uc001ddc.2_Frame_Shift_Del_p.W383fs|MIER1_uc001ddg.2_Frame_Shift_Del_p.W303fs|MIER1_uc001ddh.2_Frame_Shift_Del_p.W267fs|MIER1_uc001ddj.1_Frame_Shift_Del_p.W330fs|MIER1_uc001ddi.2_Frame_Shift_Del_p.W330fs	NM_001077700	NP_001139584	Q8N108	MIER1_HUMAN	Homo sapiens mesoderm induction early response 1 homolog (Xenopus laevis) (MIER1), transcript variant 2, mRNA.	354					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.S333fs*2(1)|p.S386fs*2(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						ATTACATGTGGAAAAAATCTG	0.333													-	67442326	A	-	67442326	7	5	25	1	0	1	0	1	0	0	0	0	9580	247	9	0	1273	0	MIER1	1	67442326	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	1583927	67442326	181808295	47	22483											
NEGR1	257194	broad.mit.edu	37	chr1	72400932	72400932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaccacttatcacctcccGcaaaaataatacttgaccgg	5	14	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:72400932G>A	uc001dfw.2	-	2	339	c.239C>T	c.(238-240)GCG>GTG	p.A80V	NEGR1_uc001dfv.2_5'UTR|NEGR1_uc010oqs.1_Missense_Mutation_p.A80V	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1 precursor	80	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				ovary(1)	1		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		ATCACCTCCCGCAAAAATAAT	0.393													A	72400932	G	A	72400932	3	1	25	1	0	0	0	0	1	0	0	0	10317	1087	38	1	849	1	NEGR1	1	72400932	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	4958606	72400932	176849689	48	22484											
ZNF644	84146	broad.mit.edu	37	chr1	91406777	91406777	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgagataaaattgttgTcatctaggagttcttcttta	8	5	5	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:91406777T>G	uc001dnw.2	-	3	276	c.134A>C	c.(133-135)GAC>GCC	p.D45A	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.D45A	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AAAATTGTTGTCATCTAGGAG	0.358													G	91406777	T	G	91406777	3	3	25	1	0	0	0	0	1	0	0	0	18057	1667	58	5	3865	5	ZNF644	1	91406777	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	19005845	91406777	157843844	49	22485											
DPYD	1806	broad.mit.edu	37	chr1	98058819	98058819	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaagccttttctgaagacGatgaacacacggcgagctcc	9	12	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:98058819G>A	uc001drv.2	-	10	1220	c.1083C>T	c.(1081-1083)ATC>ATT	p.I361I		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	361					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTCTGAAGACGATGAACACAC	0.458													A	98058819	G	A	98058819	2	1	25	1	0	0	0	0	0	0	0	1	4745	1048	37	1		1	DPYD	1	98058819	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	6652042	98058819	151191802	50	22486											
LPPR5	163404	broad.mit.edu	37	chr1	99469999	99469999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgggcttaccacgagcaCggggaccccggcggccagcg	15	18	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:99469999C>T	uc001dsb.2	-	1	451	c.229G>A	c.(229-231)GTG>ATG	p.V77M	uc001dsd.1_RNA|LPPR5_uc001dsc.2_Missense_Mutation_p.V77M	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	phosphatidic acid phosphatase type 2d isoform 1	77	Helical; (Potential).					integral to membrane	hydrolase activity				0						ACCACGAGCACGGGGACCCCG	0.721													T	99469999	C	T	99469999	3	4	25	1	0	0	0	0	1	0	0	0	8928	536	19	1	760	1	LPPR5	1	99469999	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1411180	99469999	149780622	51	22487											
FRRS1	391059	broad.mit.edu	37	chr1	100174665	100174665	+	Frame_Shift_Del	DEL	A	A	-													attgccaacactgcctttttAaaagcatgaccctgaaagaa							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:100174664_100174664TA>T	uc001dsh.1	-	16	2273	c.1671_1671TA>A	c.(1669-1671)ttafs	p.L557fs		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA.	0					electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		ACTGCCTTTTTAAAAGCATGA	0.338													-	100174665	A	-	100174665	7	5	25	1	0	1	0	1	0	0	0	0	6060	372	13	0	214	0	FRRS1	1	100174665	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	704666	100174665	149075956	52	22488											
AGL	178	broad.mit.edu	37	chr1	100382219	100382219	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttccagattgatgggcccGgagactactgcaaagactat	10	9	0	4			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:100382219G>A	uc001dsi.1	+	33	4813	c.4413G>A	c.(4411-4413)CCG>CCA	p.P1471P	AGL_uc001dsj.1_Silent_p.P1471P|AGL_uc001dsk.1_Silent_p.P1471P|AGL_uc001dsl.1_Silent_p.P1471P|AGL_uc001dsm.1_Silent_p.P1455P|AGL_uc001dsn.1_Silent_p.P1454P	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	1471	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGATGGGCCCGGAGACTACTG	0.353													A	100382219	G	A	100382219	2	1	25	1	0	0	0	0	0	0	0	1	384	1103	39	1		1	AGL	1	100382219	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	207554	100382219	148868402	53	22489											
CDC14A	8556	broad.mit.edu	37	chr1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-													gcactcctgtctggctcaaaCcccccctatcttccattcag					rs138415707		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:100889836_100889836AC>A	uc001dtf.2	+	4	856	c.368_368AC>A	c.(367-369)aacfs	p.N123fs	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Frame_Shift_Del_p.N65fs|CDC14A_uc001dte.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wed.1_5'UTR|CDC14A_uc001dtg.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wee.3_Frame_Shift_Del_p.N123fs	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	123	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTGGCTCAAACCCCCCCTAT	0.403													-	100889837	C	-	100889837	7	5	25	1	0	1	0	1	0	0	0	0	3056	506	18	0	387	0	CDC14A	1	100889837	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	507618	100889837	148360784	54	22490											
VAV3	10451	broad.mit.edu	37	chr1	108116784	108116784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgcacagaagtcatacCgagcgatggcaatgcccagc	10	13	2	1	rs142668144	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:108116784C>T	uc001dvk.1	-	26	2441	c.2387G>A	c.(2386-2388)CGG>CAG	p.R796Q	VAV3_uc010ouu.1_Missense_Mutation_p.R228Q|VAV3_uc001dvj.1_Missense_Mutation_p.R236Q|VAV3_uc010ouv.1_Missense_Mutation_p.R200Q|VAV3_uc010ouw.1_Missense_Mutation_p.R824Q	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	796	SH3 2.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GAAGTCATACCGAGCGATGGC	0.428													T	108116784	C	T	108116784	3	4	25	1	0	0	0	0	1	0	0	0	17130	652	23	1	164	1	VAV3	1	108116784	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	7226947	108116784	141133837	55	22491											
C1orf59	113802	broad.mit.edu	37	chr1	109197431	109197431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtcaaattcagatccCgaggtttcagaaaatccccc	8	11	3	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:109197431C>T	uc001dvt.3	-	5	543	c.305G>A	c.(304-306)CGG>CAG	p.R102Q	C1orf59_uc001dvu.3_Missense_Mutation_p.R102Q|C1orf59_uc009wer.2_Missense_Mutation_p.R102Q	NM_001102592	NP_001096062	Q5T8I9	HENMT_HUMAN	hypothetical protein LOC113802	102					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity				0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0152)|Lung(183;0.0895)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.163)		ATTCAGATCCCGAGGTTTCAG	0.378													T	109197431	C	T	109197431	3	4	25	1	0	0	0	0	1	0	0	0	2051	652	23	1	892	1	C1orf59	1	109197431	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1080647	109197431	140053190	56	22492											
GNAI3	2773	broad.mit.edu	37	chr1	110128869	110128869	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggtggccaaagatcagaaCgaaaaaagtggattcactgt	11	6	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:110128869C>T	uc001dxz.2	+	6	779	c.622C>T	c.(622-624)CGA>TGA	p.R208*		NM_006496	NP_006487	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein),	208					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			ovary(1)	1		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		AAGATCAGAACGAAAAAAGTG	0.448													T	110128869	C	T	110128869	4	4	25	1	0	0	0	0	0	1	0	0	6506	528	19	1	644	1	GNAI3	1	110128869	Nonsense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	931438	110128869	139121752	57	22493											
LRIG2	9860	broad.mit.edu	37	chr1	113657401	113657401	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagttggcattgtcatcatTgttgtggtctgctgtgttgt	12	6	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:113657401T>C	uc001edf.1	+	15	2631	c.2433T>C	c.(2431-2433)ATT>ATC	p.I811I	LRIG2_uc009wgn.1_Silent_p.I708I	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	811	Helical; (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TTGTCATCATTGTTGTGGTCT	0.413													C	113657401	T	C	113657401	2	2	25	1	0	0	0	0	0	0	0	1	8945	1800	63	3		3	LRIG2	1	113657401	Silent	SNP	T	TCGA-BR-4370-01A-01D-1158-08	3528532	113657401	135593220	58	22494											
SYCP1	6847	broad.mit.edu	37	chr1	115418692	115418692	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaactttatatttcagaaAatgataacagcttttgagga	6	4	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:115418692A>C	uc001efr.2	+	10	869	c.660A>C	c.(658-660)AAA>AAC	p.K220N	SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.K220N|SYCP1_uc009wgw.2_Missense_Mutation_p.K220N	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	220	Potential.				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding			skin(1)	1	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)		TATTTCAGAAAATGATAACAG	0.264													C	115418692	A	C	115418692	3	2	25	1	0	0	0	0	1	0	0	0	15428	11	1	5	694	5	SYCP1	1	115418692	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	1761291	115418692	133831929	59	22495											
SYCP1	6847	broad.mit.edu	37	chr1	115527421	115527422	+	Frame_Shift_Ins	INS	-	-	A													tatacccattgaagaaagtaINSaaaaaaagagaaaaatggcc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:115527420_115527421T>TA	uc001efr.3	+	29	2843_2844	c.2634_2635T>TA	c.(2632-2637)agtaaafs	p.S878fs	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Frame_Shift_Ins_p.S878fs|SYCP1_uc009wgw.3_Frame_Shift_Ins_p.S853fs	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	878					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.K881fs*21(1)	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)		TTGAAGAAAGTAAAAAAAAGAG	0.262													A	115527422	-	A	115527421	7	5	25	1	0	1	1	0	0	0	0	0	15428	363	13	0	2749	0	SYCP1	1	115527421	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	108729	115527421	133723200	60	22496											
SYCP1	6847	broad.mit.edu	37	chr1	115537372	115537372	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtataggaacaataatccAccagcttctcatctttgtgt	6	10	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:115537372A>G	uc001efr.2	+	31	2966	c.2757A>G	c.(2755-2757)CCA>CCG	p.P919P	SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Silent_p.P919P|SYCP1_uc009wgw.2_Silent_p.P894P	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	919					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding			skin(1)	1	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)		ACAATAATCCACCAGCTTCTC	0.289													G	115537372	A	G	115537372	2	3	25	1	0	0	0	0	0	0	0	1	15428	146	6	3		3	SYCP1	1	115537372	Silent	SNP	A	TCGA-BR-4370-01A-01D-1158-08	9951	115537372	133713249	61	22497											
C1orf161	126868	broad.mit.edu	37	chr1	116663675	116663675	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgccttactctgacacGtacaatgaaaatattaaggt	8	8	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:116663675G>A	uc001egc.1	+	3	436	c.171G>A	c.(169-171)ACG>ACA	p.T57T		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	hypothetical protein LOC126868	57											0	Lung SC(450;0.184)	all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		ACTCTGACACGTACAATGAAA	0.458													A	116663675	G	A	116663675	2	1	25	1	0	0	0	0	0	0	0	1	2009	1132	40	1		1	C1orf161	1	116663675	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1126303	116663675	132586946	62	22498											
NOTCH2	4853	broad.mit.edu	37	chr1	120458868	120458868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtggtgtcggaaacataCgtgtgaggagattctaggga	16	4	1	2	rs145566650		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:120458868C>T	uc001eik.2	-	34	6733	c.6477G>A	c.(6475-6477)ACG>ACA	p.T2159T		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	2159	Cytoplasmic (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGAAACATACGTGTGAGGAG	0.522			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				T	120458868	C	T	120458868	2	4	25	1	0	0	0	0	0	0	0	1	10548	523	19	1		1	NOTCH2	1	120458868	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3795193	120458868	128791753	63	22499											
ITGA10	8515	broad.mit.edu	37	chr1	145535840	145535840	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggccaagaggcagtctgtctGactgcagccctttgcttcca	11	13	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:145535840G>A	uc001eoa.2	+	16	2104	c.2028G>A	c.(2026-2028)CTG>CTA	p.L676L	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Silent_p.L545L|ITGA10_uc009wiw.2_Silent_p.L533L|ITGA10_uc010oyw.1_Silent_p.L621L	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	676	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGTCTGTCTGACTGCAGCCC	0.557													A	145535840	G	A	145535840	2	1	25	1	0	0	0	0	0	0	0	1	7873	1277	45	4		4	ITGA10	1	145535840	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	25076972	145535840	103714781	64	22500											
CHD1L	9557	broad.mit.edu	37	chr1	146766109	146766109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaagtgttcatcttccacGtattggacatgccacgaaag	9	10	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:146766109G>A	uc001epm.3	+	22	2588	c.2525G>A	c.(2524-2526)CGT>CAT	p.R842H	uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.R729H|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.R748H|CHD1L_uc010ozp.1_Missense_Mutation_p.R561H|CHD1L_uc001epo.3_Missense_Mutation_p.R638H|CHD1L_uc009wji.2_Missense_Mutation_p.R561H	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein	842	Macro.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.0487)					CATCTTCCACGTATTGGACAT	0.378													A	146766109	G	A	146766109	3	1	25	1	0	0	0	0	1	0	0	0	3324	1145	40	1	2611	1	CHD1L	1	146766109	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1230269	146766109	102484512	65	22501											
PLEKHO1	51177	broad.mit.edu	37	chr1	150131356	150131356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccgcaccctccagctgCgggctgaggaacccccaacc	10	20	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:150131356C>T	uc001ett.2	+	6	1146	c.868C>T	c.(868-870)CGG>TGG	p.R290W	PLEKHO1_uc001etr.2_Missense_Mutation_p.R118W|PLEKHO1_uc001ets.2_Missense_Mutation_p.R107W|PLEKHO1_uc001etu.2_Missense_Mutation_p.R118W	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O	290	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				lung(1)	1	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTCCAGCTGCGGGCTGAGGA	0.652													T	150131356	C	T	150131356	3	4	25	1	0	0	0	0	1	0	0	0	12084	759	27	1	890	1	PLEKHO1	1	150131356	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3365247	150131356	99119265	66	22502											
FLG	2312	broad.mit.edu	37	chr1	152275618	152275618	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtctgactgtacaggtgaaGactgtacatgactggctgta	12	7	1	4			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:152275618G>T	uc001ezu.1	-	3	11780	c.11744C>A	c.(11743-11745)TCT>TAT	p.S3915Y		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3915	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TACAGGTGAAGACTGTACATG	0.498									Ichthyosis				T	152275618	G	T	152275618	3	4	25	1	0	0	0	0	1	0	0	0	5922	942	33	5	445	5	FLG	1	152275618	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2144262	152275618	96975003	67	22503											
FLG	2312	broad.mit.edu	37	chr1	152277049	152277049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcttctgcttgaccccGggtgtccacgaatggtgtcc	10	14	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:152277049G>A	uc001ezu.1	-	3	10349	c.10313C>T	c.(10312-10314)CCG>CTG	p.P3438L		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3438	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTTGACCCCGGGTGTCCACG	0.597									Ichthyosis				A	152277049	G	A	152277049	3	1	25	1	0	0	0	0	1	0	0	0	5922	1116	39	1	1876	1	FLG	1	152277049	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1431	152277049	96973572	68	22504											
FLG	2312	broad.mit.edu	37	chr1	152277533	152277533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaggaagtctctgcgtgacGagtgcctgattgtctggagc	15	8	2	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:152277533G>A	uc001ezu.1	-	3	9865	c.9829C>T	c.(9829-9831)CGT>TGT	p.R3277C		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3277	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGCGTGACGAGTGCCTGAT	0.602									Ichthyosis				A	152277533	G	A	152277533	3	1	25	1	0	0	0	0	1	0	0	0	5922	1058	37	1	2360	1	FLG	1	152277533	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	484	152277533	96973088	69	22505											
LCE1E	353135	broad.mit.edu	37	chr1	152759797	152759797	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctgccagcagagccagCagcagtgccagccccctccc	10	19	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:152759797C>T	uc001fan.2	+	2	75	c.22C>T	c.(22-24)CAG>TAG	p.Q8*		NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	8	Cys-rich.				keratinization						0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGAGCCAGCAGCAGTGCCA	0.502													T	152759797	C	T	152759797	4	4	25	1	0	0	0	0	0	1	0	0	8663	711	25	2	24	2	LCE1E	1	152759797	Nonsense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	482264	152759797	96490824	70	22506											
INTS3	65123	broad.mit.edu	37	chr1	153744815	153744815	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctggtgattcctgcacaGcctgaggagctctagcagca	12	12	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:153744815G>A	uc009wom.2	+	28	2942	c.2721_splice	c.e28-1	p.S907_splice	INTS3_uc001fct.2_Splice_Site_p.S907_splice|INTS3_uc001fcu.2_Splice_Site_p.S599_splice|INTS3_uc001fcv.2_Splice_Site_p.S701_splice|INTS3_uc010peb.1_Splice_Site_p.S701_splice|INTS3_uc001fcw.2_Splice_Site_p.S420_splice|INTS3_uc010pec.1_Splice_Site_p.S420_splice|INTS3_uc001fcy.2_Splice_Site_p.S204_splice|INTS3_uc001fcx.2_Splice_Site_p.S204_splice	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3						DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTCCTGCACAGCCTGAGGAGC	0.602											OREG0013827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	153744815	G	A	153744815	5	1	25	1	0	0	0	0	0	0	1	0	7779	985	34	2	2826	2	INTS3	1	153744815	Splice_Site	SNP	G	TCGA-BR-4370-01A-01D-1158-08	985018	153744815	95505806	71	22507											
PKLR	5313	broad.mit.edu	37	chr1	155271181	155271181	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgatatgttctcctggatCgacatgctttcagtgtgggc	12	8	2	1	rs139697646	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:155271181C>T	uc001fkb.3	-	1	45	c.6G>A	c.(4-6)TCG>TCA	p.S2S	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_5'Flank|PKLR_uc010pga.1_5'Flank	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	2					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	TCTCCTGGATCGACATGCTTT	0.512													T	155271181	C	T	155271181	2	4	25	1	0	0	0	0	0	0	0	1	11976	871	31	1		1	PKLR	1	155271181	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1526366	155271181	93979440	72	22508											
IQGAP3	128239	broad.mit.edu	37	chr1	156514000	156514000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccgagctgcccacatccGggcccaggcctggatctggg	13	17	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:156514000G>A	uc001fpf.2	-	21	2479	c.2404C>T	c.(2404-2406)CGG>TGG	p.R802W		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	802	IQ 3.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCCACATCCGGGCCCAGGCC	0.572													A	156514000	G	A	156514000	3	1	25	1	0	0	0	0	1	0	0	0	7816	1115	39	1	2563	1	IQGAP3	1	156514000	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1242819	156514000	92736621	73	22509											
NTRK1	4914	broad.mit.edu	37	chr1	156843499	156843499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctctgtggatgggcagCcggcaccgtctctgcgctgg	14	14	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:156843499C>T	uc001fqh.1	+	8	981	c.925C>T	c.(925-927)CCG>TCG	p.P309S	NTRK1_uc001fqf.1_Missense_Mutation_p.P279S|NTRK1_uc009wsi.1_Missense_Mutation_p.P14S|NTRK1_uc001fqi.1_Missense_Mutation_p.P309S|NTRK1_uc009wsk.1_Missense_Mutation_p.P309S	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	309	Ig-like C2-type 2.|Extracellular (Potential).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GGATGGGCAGCCGGCACCGTC	0.617			T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)			T	156843499	C	T	156843499	3	4	25	1	0	0	0	0	1	0	0	0	10706	739	26	2	1085	2	NTRK1	1	156843499	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	329499	156843499	92407122	74	22510											
ARHGEF11	9826	broad.mit.edu	37	chr1	156916459	156916459	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccaaggacgcacctgcaTgaagagctggaatcgactct	12	11	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:156916459T>C	uc001fqo.2	-	27	3609	c.2569A>G	c.(2569-2571)ATG>GTG	p.M857V	ARHGEF11_uc010phu.1_Missense_Mutation_p.M273V|ARHGEF11_uc001fqn.2_Missense_Mutation_p.M897V	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	857	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGCACCTGCATGAAGAGCTGG	0.522													C	156916459	T	C	156916459	3	2	25	1	0	0	0	0	1	0	0	0	896	1464	51	3	2055	3	ARHGEF11	1	156916459	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	72960	156916459	92334162	75	22511											
CD1C	911	broad.mit.edu	37	chr1	158262112	158262112	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcacttgcccccgatttctCttgggtctcctggatgcagg	11	13	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:158262112C>A	uc001fru.2	+	3	859	c.567C>A	c.(565-567)CTC>CTA	p.L189L	CD1C_uc001frv.2_5'UTR	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	189	Extracellular (Potential).				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					CCCGATTTCTCTTGGGTCTCC	0.453													A	158262112	C	A	158262112	2	1	25	1	0	0	0	0	0	0	0	1	2976	900	32	5		5	CD1C	1	158262112	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1345653	158262112	90988509	76	22512											
OR10Z1	128368	broad.mit.edu	37	chr1	158576487	158576487	+	Frame_Shift_Del	DEL	G	G	-													gaatgctctctggcctggctGggggggaccaggctatctcc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:158576486_158576486TG>T	uc010pio.2	+	0	258	c.258_258TG>T	c.(256-258)gctfs	p.A86fs		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGGCCTGGCTGGGGGGGACC	0.557													-	158576487	G	-	158576487	7	5	25	1	0	1	0	1	0	0	0	0	10923	1348	47	0	261	0	OR10Z1	1	158576487	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	314375	158576487	90674134	77	22513											
SPTA1	6708	broad.mit.edu	37	chr1	158622284	158622284	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcatcaaactttttctgCagctcccaaacatcatctag	3	13	5	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:158622284C>T	uc001fst.1	-	23	3547	c.3348G>A	c.(3346-3348)CTG>CTA	p.L1116L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1116	Spectrin 11.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					ACTTTTTCTGCAGCTCCCAAA	0.403													T	158622284	C	T	158622284	2	4	25	1	0	0	0	0	0	0	0	1	15115	697	25	2		2	SPTA1	1	158622284	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	45797	158622284	90628337	78	22514											
OR6K3	391114	broad.mit.edu	37	chr1	158687412	158687412	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggcccacagaaaggcagtGtggaaatcatcacaatctcg	11	10	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:158687412G>T	uc010pip.1	-	1	542	c.542C>A	c.(541-543)ACA>AAA	p.T181K		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	181	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					GAAAGGCAGTGTGGAAATCAT	0.507													T	158687412	G	T	158687412	3	4	25	1	0	0	0	0	1	0	0	0	11203	1377	48	5	455	5	OR6K3	1	158687412	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	65128	158687412	90563209	79	22515											
ARHGAP30	257106	broad.mit.edu	37	chr1	161023081	161023081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccccaaagagctggtccaCgtgtgtgaggatgaactcca	11	12	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:161023081C>T	uc001fxl.2	-	6	977	c.631G>A	c.(631-633)GTG>ATG	p.V211M	ARHGAP30_uc001fxk.2_Missense_Mutation_p.V211M|ARHGAP30_uc001fxm.2_Missense_Mutation_p.V57M|ARHGAP30_uc009wtx.2_Translation_Start_Site|ARHGAP30_uc001fxn.1_Missense_Mutation_p.V57M	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	211	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGCTGGTCCACGTGTGTGAGG	0.562													T	161023081	C	T	161023081	3	4	25	1	0	0	0	0	1	0	0	0	879	536	19	1	2702	1	ARHGAP30	1	161023081	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2335669	161023081	88227540	80	22516											
SLC9A11	284525	broad.mit.edu	37	chr1	173545816	173545816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttacttagtaattacaagttCgatcttcggtttaaaagtta	6	5	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:173545816C>T	uc001giz.2	-	8	1309	c.886G>A	c.(886-888)GAA>AAA	p.E296K	SLC9A11_uc009wwe.2_5'UTR|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	296					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						ATTACAAGTTCGATCTTCGGT	0.398													T	173545816	C	T	173545816	3	4	25	1	0	0	0	0	1	0	0	0	14711	893	31	1	2572	1	SLC9A11	1	173545816	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	12522735	173545816	75704805	81	22517											
PAPPA2	60676	broad.mit.edu	37	chr1	176675551	176675551	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcggagatggctgctccaAggtgtgtgagctggaggaag	19	6	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:176675551A>G	uc001gkz.2	+	10	4586	c.3422A>G	c.(3421-3423)AAG>AGG	p.K1141R	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1141					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						GGCTGCTCCAAGGTGTGTGAG	0.413													G	176675551	A	G	176675551	3	3	25	1	0	0	0	0	1	0	0	0	11433	72	3	3	3509	3	PAPPA2	1	176675551	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	3129735	176675551	72575070	82	22518											
FAM5B	57795	broad.mit.edu	37	chr1	177250079	177250079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcctgtcatggccatctaCgtcaacccctttgggggcag	12	13	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:177250079C>T	uc001glf.2	+	8	2079	c.1767C>T	c.(1765-1767)TAC>TAT	p.Y589Y	FAM5B_uc001glg.2_Silent_p.Y484Y	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	589						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						TGGCCATCTACGTCAACCCCT	0.567													T	177250079	C	T	177250079	2	4	25	1	0	0	0	0	0	0	0	1	5593	547	19	1		1	FAM5B	1	177250079	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	574528	177250079	72000542	83	22519											
QSOX1	5768	broad.mit.edu	37	chr1	180155212	180155212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatctacatggctgacctGgaatctgcactgcactacat	8	11	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:180155212G>A	uc001gnz.2	+	8	987	c.912G>A	c.(910-912)CTG>CTA	p.L304L	QSOX1_uc001gny.2_Silent_p.L304L|QSOX1_uc001goa.2_Silent_p.L304L	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	304					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						TGGCTGACCTGGAATCTGCAC	0.562													A	180155212	G	A	180155212	2	1	25	1	0	0	0	0	0	0	0	1	12883	1335	47	4		4	QSOX1	1	180155212	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2905133	180155212	69095409	84	22520											
CACNA1E	777	broad.mit.edu	37	chr1	181702089	181702089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagccatgcccactgaagGggagaaggaccatgagctca	13	10	1	4			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:181702089G>A	uc001gow.2	+	20	3032	c.2867G>A	c.(2866-2868)GGG>GAG	p.G956E	CACNA1E_uc009wxs.2_Missense_Mutation_p.G844E|CACNA1E_uc001gox.1_Missense_Mutation_p.G182E|CACNA1E_uc009wxt.2_Missense_Mutation_p.G182E	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	956	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						CCCACTGAAGGGGAGAAGGAC	0.592													A	181702089	G	A	181702089	3	1	25	1	0	0	0	0	1	0	0	0	2542	1232	43	4	2945	4	CACNA1E	1	181702089	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1546877	181702089	67548532	85	22521											
ZNF648	127665	broad.mit.edu	37	chr1	182026671	182026671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgggacatccaagactgCgtcctggtttgcccccgagt	14	12	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:182026671C>T	uc001goz.2	-	2	683	c.475G>A	c.(475-477)GCA>ACA	p.A159T		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCCAAGACTGCGTCCTGGTTT	0.537													T	182026671	C	T	182026671	3	4	25	1	0	0	0	0	1	0	0	0	18060	768	27	1	1235	1	ZNF648	1	182026671	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	324582	182026671	67223950	86	22522											
LAMC1	3915	broad.mit.edu	37	chr1	183077451	183077451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcagagtaactcttaatcGcctgaacacttttggagatg	8	9	2	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:183077451G>A	uc001gpy.3	+	3	1021	c.764G>A	c.(763-765)CGC>CAC	p.R255H		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	255	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTCTTAATCGCCTGAACACT	0.388													A	183077451	G	A	183077451	3	1	25	1	0	0	0	0	1	0	0	0	8614	1087	38	1	774	1	LAMC1	1	183077451	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1050780	183077451	66173170	87	22523											
LAMC1	3915	broad.mit.edu	37	chr1	183083684	183083684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcctgtgattgcaatggtcGatcccaggaatgctacttcg	11	10	0	1	rs150210600		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:183083684G>A	uc001gpy.3	+	5	1297	c.1040G>A	c.(1039-1041)CGA>CAA	p.R347Q		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	347	Laminin EGF-like 2.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCAATGGTCGATCCCAGGAA	0.468													A	183083684	G	A	183083684	3	1	25	1	0	0	0	0	1	0	0	0	8614	1058	37	1	1058	1	LAMC1	1	183083684	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	6233	183083684	66166937	88	22524											
FAM129A	116496	broad.mit.edu	37	chr1	184863256	184863256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataatcatttttaactacaaCgtatctctccttccacttct	1	12	3	0	rs143246041		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:184863256C>T	uc001gra.2	-	3	465	c.271G>A	c.(271-273)GTT>ATT	p.V91I	FAM129A_uc009wyh.1_Missense_Mutation_p.V91I|FAM129A_uc009wyi.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	91					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4						TTAACTACAACGTATCTCTCC	0.363													T	184863256	C	T	184863256	3	4	25	1	0	0	0	0	1	0	0	0	5436	536	19	1	2563	1	FAM129A	1	184863256	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1779572	184863256	64387365	89	22525											
TPR	7175	broad.mit.edu	37	chr1	186296653	186296653	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcactgtcaattacaatgAcatcatctcctttgccttga	4	12	4	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:186296653A>G	uc001grv.2	-	40	6125	c.5828T>C	c.(5827-5829)GTC>GCC	p.V1943A		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1943					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		aATTACAATGACATCATCTCC	0.308			T	NTRK1	papillary thyroid								G	186296653	A	G	186296653	3	3	25	1	0	0	0	0	1	0	0	0	16413	275	10	3	1311	3	TPR	1	186296653	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	1433397	186296653	62953968	90	22526											
PDC	5132	broad.mit.edu	37	chr1	186413572	186413572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctgcatacactgtctacGgtatttacgaaggcagtttt	8	9	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:186413572G>A	uc001gsa.2	-	4	353	c.280C>T	c.(280-282)CGT>TGT	p.R94C	PDC_uc001grz.2_Missense_Mutation_p.R42C	NM_002597	NP_002588	P20941	PHOS_HUMAN	phosducin isoform a	94					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			skin(1)	1		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		CACTGTCTACGGTATTTACGA	0.368													A	186413572	G	A	186413572	3	1	25	1	0	0	0	0	1	0	0	0	11614	1116	39	1	464	1	PDC	1	186413572	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	116919	186413572	62837049	91	22527											
CFHR5	81494	broad.mit.edu	37	chr1	196971705	196971705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggatggagaaaaagtagCtgttctctgtaaagaaaact	10	5	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:196971705C>T	uc001gts.3	+	8	1369	c.1241C>T	c.(1240-1242)GCT>GTT	p.A414V		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	414	Sushi 7.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						GAAAAAGTAGCTGTTCTCTGT	0.388													T	196971705	C	T	196971705	3	4	25	1	0	0	0	0	1	0	0	0	3288	797	28	2	1271	2	CFHR5	1	196971705	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	10558133	196971705	52278916	92	22528											
CRB1	23418	broad.mit.edu	37	chr1	197404029	197404029	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagattattctttcaattGcaaagtggcaacagctttta	6	8	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:197404029G>A	uc001gtz.2	+	9	3171	c.3036G>A	c.(3034-3036)TTG>TTA	p.L1012L	CRB1_uc010poz.1_Silent_p.L988L|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.L900L|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Silent_p.L493L|CRB1_uc001gub.1_Silent_p.L661L	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	1012	Extracellular (Potential).|Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						TCTTTCAATTGCAAAGTGGCA	0.383													A	197404029	G	A	197404029	2	1	25	1	0	0	0	0	0	0	0	1	3848	1310	46	2		2	CRB1	1	197404029	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	432324	197404029	51846592	93	22529											
LAD1	3898	broad.mit.edu	37	chr1	201352206	201352206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgagcccctcaccttcCggctggaggctggttctgct	13	15	2	1	rs115025356	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:201352206C>T	uc001gwm.2	-	7	1617	c.1382G>A	c.(1381-1383)CGG>CAG	p.R461Q		NM_005558	NP_005549	O00515	LAD1_HUMAN	ladinin 1	461						basement membrane	structural molecule activity				0						CCTCACCTTCCGGCTGGAGGC	0.572													T	201352206	C	T	201352206	3	4	25	1	0	0	0	0	1	0	0	0	8599	652	23	1	187	1	LAD1	1	201352206	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3948177	201352206	47898415	94	22530											
PPP1R12B	4660	broad.mit.edu	37	chr1	202385958	202385958	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catggtgaagtttctggtggAgaacagagccaatgtaaacc	12	7	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:202385958A>T	uc001gya.1	+	2	479	c.335A>T	c.(334-336)GAG>GTG	p.E112V	PPP1R12B_uc001gxy.2_Missense_Mutation_p.E112V|PPP1R12B_uc009xad.1_5'UTR|PPP1R12B_uc009xae.1_Missense_Mutation_p.E112V|PPP1R12B_uc001gxz.1_Missense_Mutation_p.E112V	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	112	ANK 2.				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTTCTGGTGGAGAACAGAGCC	0.373													T	202385958	A	T	202385958	3	4	25	1	0	0	0	0	1	0	0	0	12355	304	11	5	341	5	PPP1R12B	1	202385958	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	1033752	202385958	46864663	95	22531											
TMCC2	9911	broad.mit.edu	37	chr1	205238587	205238587	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcacaggccacccacacCgccgtggtgtccaagccccg	9	20	1	0	rs146274386		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:205238587C>T	uc001hbz.1	+	4	1701	c.1257C>T	c.(1255-1257)ACC>ACT	p.T419T	TMCC2_uc010prf.1_Silent_p.T341T|TMCC2_uc001hca.2_Silent_p.T194T|TMCC2_uc001hcb.1_Silent_p.T179T|TMCC2_uc001hcc.1_Silent_p.T40T|TMCC2_uc001hcd.2_Silent_p.T186T	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	419						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCACCCACACCGCCGTGGTGT	0.667													T	205238587	C	T	205238587	2	4	25	1	0	0	0	0	0	0	0	1	15990	639	23	1		1	TMCC2	1	205238587	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2852629	205238587	44012034	96	22532											
PIGR	5284	broad.mit.edu	37	chr1	207105105	207105105	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccctggagttctcgaagtctGacatgctaatgtctgtcctg	10	11	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:207105105G>A	uc001hez.2	-	9	2235	c.2051C>T	c.(2050-2052)TCA>TTA	p.S684L	PIGR_uc009xbz.2_Missense_Mutation_p.S684L	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	684	Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CTCGAAGTCTGACATGCTAAT	0.527													A	207105105	G	A	207105105	3	1	25	1	0	0	0	0	1	0	0	0	11897	1294	45	4	255	4	PIGR	1	207105105	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1866518	207105105	42145516	97	22533											
PIGR	5284	broad.mit.edu	37	chr1	207106471	207106471	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtctagcaccttctcatcAggagcagcgtctgccttcgc	10	14	4	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:207106471A>G	uc001hez.2	-	7	1930	c.1746T>C	c.(1744-1746)CCT>CCC	p.P582P	PIGR_uc009xbz.2_Silent_p.P582P	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	582	Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CCTTCTCATCAGGAGCAGCGT	0.537													G	207106471	A	G	207106471	2	3	25	1	0	0	0	0	0	0	0	1	11897	175	7	3		3	PIGR	1	207106471	Silent	SNP	A	TCGA-BR-4370-01A-01D-1158-08	1366	207106471	42144150	98	22534											
KCNH1	3756	broad.mit.edu	37	chr1	210970965	210970965	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtcccctggggcacagtgCaccgtctggaactccatggc	13	14	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:210970965C>A	uc001hib.2	-	9	1970	c.1800G>T	c.(1798-1800)GTG>GTT	p.V600V	KCNH1_uc001hic.2_Silent_p.V573V	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	600	Cytoplasmic (Potential).|cNMP.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GGGCACAGTGCACCGTCTGGA	0.612													A	210970965	C	A	210970965	2	1	25	1	0	0	0	0	0	0	0	1	8031	697	25	5		5	KCNH1	1	210970965	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3864494	210970965	38279656	99	22535											
INTS7	25896	broad.mit.edu	37	chr1	212194449	212194449	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaaaacatcagctaacTttaggaatgcagaattgata	7	7	2	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:212194449T>G	uc001hiw.1	-	2	305	c.200A>C	c.(199-201)AAG>ACG	p.K67T	INTS7_uc009xdb.1_Missense_Mutation_p.K67T|INTS7_uc001hix.1_5'UTR|INTS7_uc001hiy.1_Missense_Mutation_p.K67T|INTS7_uc010pta.1_Missense_Mutation_p.K67T	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	67					snRNA processing	integrator complex	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ATCAGCTAACTTTAGGAATGC	0.348													G	212194449	T	G	212194449	3	3	25	1	0	0	0	0	1	0	0	0	7783	1609	56	5	2764	5	INTS7	1	212194449	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	1223484	212194449	37056172	100	22536											
FAM71A	149647	broad.mit.edu	37	chr1	212798363	212798363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgcaccgatatttgagagCgactttatccagatcaccaa	7	10	1	2	rs141841205		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:212798363C>T	uc001hjk.2	+	1	548	c.144C>T	c.(142-144)AGC>AGT	p.S48S	uc010pth.1_Intron	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	48										skin(3)|ovary(1)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TATTTGAGAGCGACTTTATCC	0.507													T	212798363	C	T	212798363	2	4	25	1	0	0	0	0	0	0	0	1	5607	767	27	1		1	FAM71A	1	212798363	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	603914	212798363	36452258	101	22537											
RPS6KC1	26750	broad.mit.edu	37	chr1	213302993	213302993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttggtctcaatctttcttCggattcttcagcactagggg	9	9	5	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:213302993C>T	uc010ptr.1	+	6	755	c.596C>T	c.(595-597)TCG>TTG	p.S199L	RPS6KC1_uc001hkd.2_Missense_Mutation_p.S187L|RPS6KC1_uc010pts.1_Missense_Mutation_p.S18L|RPS6KC1_uc010ptt.1_Missense_Mutation_p.S18L|RPS6KC1_uc010ptu.1_Missense_Mutation_p.S18L|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc001hke.2_Missense_Mutation_p.S18L	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	199					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AATCTTTCTTCGGATTCTTCA	0.433													T	213302993	C	T	213302993	3	4	25	1	0	0	0	0	1	0	0	0	13658	893	31	1	618	1	RPS6KC1	1	213302993	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	504630	213302993	35947628	102	22538											
PTPN14	5784	broad.mit.edu	37	chr1	214557590	214557590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagctctggggtgctcacCgtgtgcgagatggcgcttgc	16	12	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:214557590C>T	uc001hkk.1	-	13	1879	c.1608G>A	c.(1606-1608)ACG>ACA	p.T536T	PTPN14_uc010pty.1_Silent_p.T437T	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	536					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGGTGCTCACCGTGTGCGAGA	0.572													T	214557590	C	T	214557590	2	4	25	1	0	0	0	0	0	0	0	1	12783	639	23	1		1	PTPN14	1	214557590	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1254597	214557590	34693031	103	22539											
CENPF	1063	broad.mit.edu	37	chr1	214815832	214815832	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtgtctttggctccatTggacgagagtaattcctacg	10	11	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:214815832T>C	uc001hkm.2	+	12	4325	c.4151T>C	c.(4150-4152)TTG>TCG	p.L1384S		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTGGCTCCATTGGACGAGAGT	0.423													C	214815832	T	C	214815832	3	2	25	1	0	0	0	0	1	0	0	0	3231	1821	63	3	4193	3	CENPF	1	214815832	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	258242	214815832	34434789	104	22540											
MIA3	375056	broad.mit.edu	37	chr1	222833602	222833602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgacagtggagccacctGtgagacctctctctgctact	9	13	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:222833602G>A	uc001hnl.2	+	24	5068	c.5059G>A	c.(5059-5061)GTG>ATG	p.V1687M	MIA3_uc001hnm.2_Missense_Mutation_p.V565M	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1687	Pro-rich.|Cytoplasmic (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		GGAGCCACCTGTGAGACCTCT	0.488													A	222833602	G	A	222833602	3	1	25	1	0	0	0	0	1	0	0	0	9565	1377	48	4	5153	4	MIA3	1	222833602	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	8017770	222833602	26417019	105	22541											
SUSD4	55061	broad.mit.edu	37	chr1	223465929	223465929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcaaagaaaacccctccGctgggggtcctgaagccatt	9	14	1	2	rs148470082		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:223465929G>A	uc001hnx.2	-	2	847	c.213C>T	c.(211-213)AGC>AGT	p.S71S	SUSD4_uc001hny.3_Silent_p.S71S|SUSD4_uc010puw.1_5'UTR|SUSD4_uc001hnz.2_Silent_p.S71S|SUSD4_uc010pux.1_Intron	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	sushi domain containing 4 isoform a	71	Sushi 1.|Extracellular (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(131;0.0611)		AAACCCCTCCGCTGGGGGTCC	0.498													A	223465929	G	A	223465929	2	1	25	1	0	0	0	0	0	0	0	1	15407	1078	38	1		1	SUSD4	1	223465929	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	632327	223465929	25784692	106	22542											
CABC1	56997	broad.mit.edu	37	chr1	227174287	227174287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgtcatgctgaggcaccGtctcgtccccccacccgagg	10	19	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:227174287G>A	uc001hqm.1	+	20	5212	c.1793G>A	c.(1792-1794)CGT>CAT	p.R598H	CABC1_uc001hqn.1_Missense_Mutation_p.R598H|CABC1_uc009xeq.1_Missense_Mutation_p.R546H|CABC1_uc010pvq.1_Missense_Mutation_p.R319H|CABC1_uc010pvr.1_Missense_Mutation_p.R272H|CABC1_uc001hqo.1_Missense_Mutation_p.R319H|CABC1_uc009xer.1_Missense_Mutation_p.R114H	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	598					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				CTGAGGCACCGTCTCGTCCCC	0.602													A	227174287	G	A	227174287	3	1	25	1	0	0	0	0	1	0	0	0	2527	1145	40	1	1847	1	CABC1	1	227174287	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3708358	227174287	22076334	107	22543											
ARF1	375	broad.mit.edu	37	chr1	228285303	228285303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggcaggcctgatcttcGtggtggacagcaatgacaga	14	11	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:228285303G>A	uc001hrr.2	+	4	499	c.271G>A	c.(271-273)GTG>ATG	p.V91M	ARF1_uc001hrs.2_Missense_Mutation_p.V91M|ARF1_uc001hrt.2_Intron|ARF1_uc009xev.2_Intron|ARF1_uc001hru.2_Missense_Mutation_p.V91M|ARF1_uc001hrv.2_Missense_Mutation_p.V91M|ARF1_uc001hrw.2_Missense_Mutation_p.V91M	NM_001024226	NP_001019397	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	91					cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity				0		Prostate(94;0.0405)				CCTGATCTTCGTGGTGGACAG	0.622													A	228285303	G	A	228285303	3	1	25	1	0	0	0	0	1	0	0	0	844	1145	40	1	281	1	ARF1	1	228285303	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1111016	228285303	20965318	108	22544											
ARF1	375	broad.mit.edu	37	chr1	228285355	228285355	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaggcccgtgaggagctcaTgaggatgctggccgaggacg	18	10	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:228285355T>C	uc001hrr.2	+	4	551	c.323T>C	c.(322-324)ATG>ACG	p.M108T	ARF1_uc001hrs.2_Missense_Mutation_p.M108T|ARF1_uc001hrt.2_Intron|ARF1_uc009xev.2_Intron|ARF1_uc001hru.2_Missense_Mutation_p.M108T|ARF1_uc001hrv.2_Missense_Mutation_p.M108T|ARF1_uc001hrw.2_Missense_Mutation_p.M108T	NM_001024226	NP_001019397	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	108					cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity				0		Prostate(94;0.0405)				GAGGAGCTCATGAGGATGCTG	0.627													C	228285355	T	C	228285355	3	2	25	1	0	0	0	0	1	0	0	0	844	1464	51	3	333	3	ARF1	1	228285355	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	52	228285355	20965266	109	22545											
OBSCN	84033	broad.mit.edu	37	chr1	228481116	228481116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagaaggggcaacagccGtgctgcggtgtgagctgagc	16	11	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:228481116G>A	uc009xez.1	+	41	10974	c.10930G>A	c.(10930-10932)GTG>ATG	p.V3644M	OBSCN_uc001hsn.2_Missense_Mutation_p.V3644M|OBSCN_uc001hsq.1_Missense_Mutation_p.V900M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3644	Ig-like 37.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GGCAACAGCCGTGCTGCGGTG	0.587													A	228481116	G	A	228481116	3	1	25	1	0	0	0	0	1	0	0	0	10812	1145	40	1	11088	1	OBSCN	1	228481116	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	195761	228481116	20769505	110	22546											
OBSCN	84033	broad.mit.edu	37	chr1	228506705	228506705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggaaacgtcgcatgagccGtgagcccacgctggactcca	12	14	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:228506705G>A	uc009xez.1	+	54	14296	c.14252G>A	c.(14251-14253)CGT>CAT	p.R4751H	OBSCN_uc001hsn.2_Missense_Mutation_p.R4751H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4751					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CGCATGAGCCGTGAGCCCACG	0.672													A	228506705	G	A	228506705	3	1	25	1	0	0	0	0	1	0	0	0	10812	1145	40	1	14462	1	OBSCN	1	228506705	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	25589	228506705	20743916	111	22547											
OBSCN	84033	broad.mit.edu	37	chr1	228566376	228566376	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctaacagaggagggcccGgcctgttcgcggcccgcgcc	16	15	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:228566376G>A	uc009xez.1	+	105	23831	c.23787G>A	c.(23785-23787)CCG>CCA	p.P7929P	OBSCN_uc001hsr.1_Silent_p.P2558P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	7929					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGGAGGGCCCGGCCTGTTCGC	0.716													A	228566376	G	A	228566376	2	1	25	1	0	0	0	0	0	0	0	1	10812	1103	39	1		1	OBSCN	1	228566376	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	59671	228566376	20684245	112	22548											
HIST3H3	8290	broad.mit.edu	37	chr1	228613002	228613002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgccacccgttgacttgcGcgcagtctgcttggttcggg	13	13	1	1	rs147766330		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:228613002G>A	uc001hsx.1	-	1	25	c.25C>T	c.(25-27)CGC>TGC	p.R9C		NM_003493	NP_003484	Q16695	H31T_HUMAN	histone cluster 3, H3	9					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0		Prostate(94;0.0724)				GTTGACTTGCGCGCAGTCTGC	0.642													A	228613002	G	A	228613002	3	1	25	1	0	0	0	0	1	0	0	0	7184	1087	38	1	389	1	HIST3H3	1	228613002	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	46626	228613002	20637619	113	22549											
RAB4A	5867	broad.mit.edu	37	chr1	229438688	229438688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgaggtcaccgcggcgCgcacaggccccgaacgctca	13	17	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:229438688C>T	uc001hth.2	+	7	829	c.621C>T	c.(619-621)CGC>CGT	p.R207R	RAB4A_uc001hti.2_RNA|RAB4A_uc001htj.2_RNA|SPHAR_uc001htk.3_5'Flank	NM_004578	NP_004569	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	202							GDP binding|GTP binding|GTPase activity			ovary(1)	1	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				CACCGCGGCGCGCACAGGCCC	0.582													T	229438688	C	T	229438688	2	4	25	1	0	0	0	0	0	0	0	1	12946	755	27	1		1	RAB4A	1	229438688	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	825686	229438688	19811933	114	22550											
ACTA1	58	broad.mit.edu	37	chr1	229567811	229567811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgatggtgatgacctgcccGtctggcagctcgtagctctt	12	13	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:229567811G>A	uc001htm.2	-	5	843	c.738C>T	c.(736-738)GAC>GAT	p.D246D		NM_001100	NP_001091	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	246					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton				0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TGACCTGCCCGTCTGGCAGCT	0.602													A	229567811	G	A	229567811	2	1	25	1	0	0	0	0	0	0	0	1	191	1136	40	1		1	ACTA1	1	229567811	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	129123	229567811	19682810	115	22551											
TAF5L	27097	broad.mit.edu	37	chr1	229750217	229750217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctgaatctgctcggtacGcactcgtttcatgaccttca	7	13	4	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:229750217G>A	uc001htq.2	-	2	179	c.13C>T	c.(13-15)CGT>TGT	p.R5C	TAF5L_uc001htr.2_Missense_Mutation_p.R5C	NM_014409	NP_055224	O75529	TAF5L_HUMAN	PCAF associated factor 65 beta isoform a	5					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			ovary(1)	1	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TGCTCGGTACGCACTCGTTTC	0.562													A	229750217	G	A	229750217	3	1	25	1	0	0	0	0	1	0	0	0	15526	1087	38	1	1778	1	TAF5L	1	229750217	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	182406	229750217	19500404	116	22552											
URB2	9816	broad.mit.edu	37	chr1	229773794	229773794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttcccaaggaagcgacaGgacgctgctctcccatgttg	10	13	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:229773794G>A	uc001hts.1	+	4	3570	c.3434G>A	c.(3433-3435)AGG>AAG	p.R1145K	URB2_uc009xfd.1_Missense_Mutation_p.R1145K	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	1145						nucleolus				central_nervous_system(2)|ovary(1)	3						GGAAGCGACAGGACGCTGCTC	0.582													A	229773794	G	A	229773794	3	1	25	1	0	0	0	0	1	0	0	0	17022	1000	35	4	3444	4	URB2	1	229773794	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	23577	229773794	19476827	117	22553											
SLC35F3	148641	broad.mit.edu	37	chr1	234367374	234367374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttcaggaagttcgacgcGcccttcaccctcacgtggtt	9	15	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:234367374G>A	uc001hwa.1	+	2	516	c.288G>A	c.(286-288)GCG>GCA	p.A96A	SLC35F3_uc001hvy.1_Silent_p.A165A	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	96					transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AGTTCGACGCGCCCTTCACCC	0.582													A	234367374	G	A	234367374	2	1	25	1	0	0	0	0	0	0	0	1	14590	1074	38	1		1	SLC35F3	1	234367374	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	4593580	234367374	14883247	118	22554											
NID1	4811	broad.mit.edu	37	chr1	236148772	236148772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtaaaccatcttgtccaCgcagtcaaaggccagtccaa	7	14	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:236148772C>T	uc001hxo.2	-	15	3064	c.2962G>A	c.(2962-2964)GTG>ATG	p.V988M	NID1_uc009xgd.2_Missense_Mutation_p.V855M|NID1_uc009xgc.2_Missense_Mutation_p.V74M	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	988					cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	ATCTTGTCCACGCAGTCAAAG	0.428													T	236148772	C	T	236148772	3	4	25	1	0	0	0	0	1	0	0	0	10414	536	19	1	805	1	NID1	1	236148772	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1781398	236148772	13101849	119	22555											
RYR2	6262	broad.mit.edu	37	chr1	237656303	237656303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccacggggttgcagtccGttctaaccagcatctcatct	9	13	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:237656303G>A	uc001hyl.1	+	19	1997	c.1877G>A	c.(1876-1878)CGT>CAT	p.R626H		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	626	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTGCAGTCCGTTCTAACCAG	0.403													A	237656303	G	A	237656303	3	1	25	1	0	0	0	0	1	0	0	0	13769	1145	40	1	1951	1	RYR2	1	237656303	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1507531	237656303	11594318	120	22556											
RYR2	6262	broad.mit.edu	37	chr1	237947036	237947036	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcttgtggaatcttccaaCaacgtggagatgattctcaa	9	8	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:237947036C>T	uc001hyl.1	+	90	12144	c.12024C>T	c.(12022-12024)AAC>AAT	p.N4008N	RYR2_uc010pya.1_Silent_p.N423N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4008					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATCTTCCAACAACGTGGAGA	0.368													T	237947036	C	T	237947036	2	4	25	1	0	0	0	0	0	0	0	1	13769	477	17	4		4	RYR2	1	237947036	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	290733	237947036	11303585	121	22557											
WDR64	128025	broad.mit.edu	37	chr1	241907814	241907814	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttttgccacaggagcgtaTaatggtcagactaacatcca	8	10	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:241907814T>C	uc001hze.1	+	12	1767	c.1560T>C	c.(1558-1560)TAT>TAC	p.Y520Y	WDR64_uc001hzf.1_Silent_p.Y240Y			B1ANS9	WDR64_HUMAN	RecName: Full=WD repeat-containing protein 64;	520	WD 7.									skin(1)	1	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CAGGAGCGTATAATGGTCAGA	0.438													C	241907814	T	C	241907814	2	2	25	1	0	0	0	0	0	0	0	1	17312	1413	49	3		3	WDR64	1	241907814	Silent	SNP	T	TCGA-BR-4370-01A-01D-1158-08	3960778	241907814	7342807	122	22558											
KIF26B	55083	broad.mit.edu	37	chr1	245849479	245849479	+	Frame_Shift_Del	DEL	C	C	-													caagcccaggcccatgggctCcccccggctgggcatcgcca							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:245849478_245849478TC>T	uc001ibf.1	+	11	3633	c.3193_3193TC>T	c.(3193-3195)tccfs	p.S1065fs	KIF26B_uc001ibg.1_Frame_Shift_Del_p.S683fs|KIF26B_uc001ibh.1_Frame_Shift_Del_p.S307fs	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1065					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCCCATGGGCTCCCCCCGGCT	0.662													-	245849479	C	-	245849479	7	5	25	1	0	1	0	1	0	0	0	0	8295	855	30	0	3240	0	KIF26B	1	245849479	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	3941665	245849479	3401142	123	22559											
ZNF695	57116	broad.mit.edu	37	chr1	247151469	247151469	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtaatttctcaagacaacaTctttcatatcttctcagcat	3	11	5	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:247151469T>A	uc009xgu.2	-	4	493	c.348A>T	c.(346-348)AGA>AGT	p.R116S	ZNF695_uc001ica.2_RNA|ZNF695_uc001icb.1_RNA|ZNF695_uc009xgt.1_RNA|ZNF695_uc001ibx.2_Missense_Mutation_p.R116S|ZNF695_uc001iby.2_Intron|ZNF695_uc001icc.2_Missense_Mutation_p.R104S	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	116					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CAAGACAACATCTTTCATATC	0.398													A	247151469	T	A	247151469	3	1	25	1	0	0	0	0	1	0	0	0	18095	1432	50	5	1203	5	ZNF695	1	247151469	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	1301990	247151469	2099152	124	22560											
OR6F1	343169	broad.mit.edu	37	chr1	247875544	247875544	+	Frame_Shift_Del	DEL	G	G	-													gaagaagtggttgatggcacGggggccacagaaggacaggc					rs61730473	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:247875543_247875543CG>C	uc001idj.1	-	0	515	c.515_515CG>G	c.(514-516)cgtfs	p.R172fs		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GTTGATGGCACGGGGGCCACA	0.597													-	247875544	G	-	247875544	7	5	25	1	0	1	0	1	0	0	0	0	11201	1116	39	0	416	0	OR6F1	1	247875544	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	724075	247875544	1375077	125	22561											
TPO	7173	broad.mit.edu	37	chr2	1418199	1418199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgagagcgctcgctgtgCtgtctgtcacgctggttatg	14	9	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:1418199C>T	uc002qww.2	+	2	110	c.19C>T	c.(19-21)CTG>TTG	p.L7L	TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Silent_p.L7L|TPO_uc002qwu.2_Silent_p.L7L|TPO_uc002qwr.2_Silent_p.L7L|TPO_uc002qwx.2_Silent_p.L7L|TPO_uc010yio.1_Silent_p.L7L|TPO_uc010yip.1_Silent_p.L7L	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	7					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCTCGCTGTGCTGTCTGTCAC	0.507													T	1418199	C	T	1418199	2	4	25	1	0	0	0	0	0	0	0	1	16407	796	28	2		2	TPO	2	1418199	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08		1418199	241781174	126	22562											
KIDINS220	57498	broad.mit.edu	37	chr2	8926140	8926141	+	Frame_Shift_Ins	INS	-	-	T													aaagatgggagacaacatgtINSttttttccatttctttttac							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:8926139_8926140G>GT	uc002qzc.2	-	16	2142_2143	c.1960_1961C>AC	c.(1960-1962)acafs	p.T654fs	KIDINS220_uc010yiv.1_Frame_Shift_Ins_p.T420fs|KIDINS220_uc002qzd.2_Frame_Shift_Ins_p.T612fs|KIDINS220_uc010yiw.1_Frame_Shift_Ins_p.T655fs	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	654	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAGACAACATGTTTTTTTCCAT	0.322													T	8926141	-	T	8926140	7	5	25	1	0	1	1	0	0	0	0	0	8271	1725	60	0	3411	0	KIDINS220	2	8926140	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	7507941	8926140	234273233	127	22563											
KCNF1	3754	broad.mit.edu	37	chr2	11053018	11053018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacgacctgggcgtggacGcagccgagggccgctggcgc	19	13	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:11053018G>A	uc002rax.2	+	1	956	c.466G>A	c.(466-468)GCA>ACA	p.A156T		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	156	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GGGCGTGGACGCAGCCGAGGG	0.692													A	11053018	G	A	11053018	3	1	25	1	0	0	0	0	1	0	0	0	8026	1087	38	1	468	1	KCNF1	2	11053018	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2126878	11053018	232146355	128	22564											
RAD51AP2	729475	broad.mit.edu	37	chr2	17697088	17697089	+	Frame_Shift_Ins	INS	-	-	A													aaaacatgtcatccattggaINSaaaaaactatctttctcttc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:17697087_17697088G>GA	uc002rcl.1	-	0	2619_2620	c.2595_2596C>TC	c.(2593-2598)tttccafs	p.F865fs	RAD51AP2_uc010exn.1_Frame_Shift_Ins_p.F856fs	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	865										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCATCCATTGGAAAAAAACTAT	0.282													A	17697089	-	A	17697088	7	5	25	1	0	1	1	0	0	0	0	0	12987	243	9	0	896	0	RAD51AP2	2	17697088	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	6644070	17697088	225502285	129	22565											
ATAD2B	54454	broad.mit.edu	37	chr2	24103515	24103515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttagagttgcctacctattgGaggtgcttggtatcgatcca	11	8	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:24103515G>A	uc002rek.3	-	7	1189	c.895C>T	c.(895-897)CCA>TCA	p.P299S	ATAD2B_uc010yki.1_RNA|ATAD2B_uc010exx.1_Missense_Mutation_p.P313S	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	299							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACCTATTGGAGGTGCTTGG	0.333													A	24103515	G	A	24103515	3	1	25	1	0	0	0	0	1	0	0	0	1072	1174	41	4	3569	4	ATAD2B	2	24103515	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	6406427	24103515	219095858	130	22566											
ITSN2	50618	broad.mit.edu	37	chr2	24494722	24494722	+	Frame_Shift_Del	DEL	T	T	-													ttcttgaattttttcttgtgTtttttcttcctggagtcgct							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:24494721_24494721GT>G	uc002rfe.2	-	18	2429	c.2171_2171AC>C	c.(2170-2172)acafs	p.T724fs	ITSN2_uc002rff.2_Frame_Shift_Del_p.T697fs|ITSN2_uc002rfg.3_Frame_Shift_Del_p.T724fs	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	724					endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					tttttcttgtgttttttcttc	0.348													-	24494722	T	-	24494722	7	5	25	1	0	1	0	1	0	0	0	0	7927	1725	60	0	3062	0	ITSN2	2	24494722	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	391207	24494722	218704651	131	22567											
OTOF	9381	broad.mit.edu	37	chr2	26688695	26688695	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattccatggggaaggaggcCtcgatgtcaaaggacctggt	15	8	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:26688695C>A	uc002rhk.2	-	38	4771	c.4644G>T	c.(4642-4644)GAG>GAT	p.E1548D	OTOF_uc010yla.1_Missense_Mutation_p.E278D|OTOF_uc002rhh.2_Missense_Mutation_p.E781D|OTOF_uc002rhi.2_Missense_Mutation_p.E858D|OTOF_uc002rhj.2_Missense_Mutation_p.E781D	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1548	Cytoplasmic (Potential).|C2 4.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAGGAGGCCTCGATGTCAA	0.572													A	26688695	C	A	26688695	3	1	25	1	0	0	0	0	1	0	0	0	11303	680	24	5	1570	5	OTOF	2	26688695	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2193973	26688695	216510678	132	22568											
TRIM54	57159	broad.mit.edu	37	chr2	27521604	27521604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catttacaagcaggagtcatCcaggtgagccaccagagtct	10	11	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:27521604C>T	uc002rjo.2	+	2	338	c.338C>T	c.(337-339)TCC>TTC	p.S113F	TRIM54_uc002rjn.2_Missense_Mutation_p.S113F	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	ring finger protein 30 isoform 2	113					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGAGTCATCCAGGTGAGCC	0.537													T	27521604	C	T	27521604	3	4	25	1	0	0	0	0	1	0	0	0	16525	855	30	4	344	4	TRIM54	2	27521604	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	832909	27521604	215677769	133	22569											
IFT172	26160	broad.mit.edu	37	chr2	27703932	27703932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcataacttcctagcaCaacagactggcccccaggac	7	16	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:27703932C>T	uc002rku.2	-	8	817	c.766G>A	c.(766-768)GTG>ATG	p.V256M	IFT172_uc002rkw.2_Missense_Mutation_p.V256M|IFT172_uc010yls.1_Missense_Mutation_p.V235M|IFT172_uc010ezc.2_Missense_Mutation_p.V256M|IFT172_uc002rkv.2_Missense_Mutation_p.V256M	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	256	WD 6.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CTTCCTAGCACAACAGACTGG	0.473													T	27703932	C	T	27703932	3	4	25	1	0	0	0	0	1	0	0	0	7557	478	17	4	4647	4	IFT172	2	27703932	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	182328	27703932	215495441	134	22570											
PREPL	9581	broad.mit.edu	37	chr2	44549925	44549925	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccttgagtttctcagtataActtacaattcctttcagagg	6	9	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:44549925A>T	uc002ruf.2	-	12	2000	c.1965T>A	c.(1963-1965)AGT>AGA	p.S655R	PREPL_uc002rug.2_Missense_Mutation_p.S589R|PREPL_uc002ruh.2_Missense_Mutation_p.S593R|PREPL_uc010fax.2_Missense_Mutation_p.S655R|PREPL_uc002rui.3_Missense_Mutation_p.S566R|PREPL_uc002ruj.1_Missense_Mutation_p.S566R|PREPL_uc002ruk.1_Missense_Mutation_p.S655R	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like isoform C	655					proteolysis	cytosol	serine-type endopeptidase activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTCAGTATAACTTACAATTC	0.438													T	44549925	A	T	44549925	3	4	25	1	0	0	0	0	1	0	0	0	12475	40	2	5	230	5	PREPL	2	44549925	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	16845993	44549925	198649448	135	22571											
TTC7A	57217	broad.mit.edu	37	chr2	47202114	47202114	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accctcttcctcccgcaggcCtctctctggaacgcctaccc	6	21	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:47202114C>A	uc002rvo.2	+	4	888	c.520C>A	c.(520-522)CTC>ATC	p.L174I	TTC7A_uc002rvm.2_Missense_Mutation_p.L140I|TTC7A_uc002rvn.1_Missense_Mutation_p.L55I|TTC7A_uc010fbb.2_Missense_Mutation_p.L174I|TTC7A_uc010fbc.2_5'UTR|TTC7A_uc002rvp.2_Missense_Mutation_p.L55I	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	174							binding			breast(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TCCCGCAGGCCTCTCTCTGGA	0.657													A	47202114	C	A	47202114	3	1	25	1	0	0	0	0	1	0	0	0	16709	681	24	5	534	5	TTC7A	2	47202114	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2652189	47202114	195997259	136	22572											
MSH6	2956	broad.mit.edu	37	chr2	48018188	48018188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagaaagggaaatcagtccGtgttcatgtacagttttttg	11	6	2	1	rs63750143		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:48018188G>A	uc002rwd.3	+	2	535	c.383G>A	c.(382-384)CGT>CAT	p.R128H	MSH6_uc002rwc.2_Missense_Mutation_p.R128H|MSH6_uc010fbj.2_Translation_Start_Site|MSH6_uc010yoi.1_Intron|MSH6_uc010yoj.1_Translation_Start_Site	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	128	PWWP.		R -> L (no impairment of heterodimerization with MSH2 and of in vitro mismatch repair capacity).		determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAATCAGTCCGTGTTCATGTA	0.463			Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				A	48018188	G	A	48018188	3	1	25	1	0	0	0	0	1	0	0	0	9874	1145	40	1	389	1	MSH6	2	48018188	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	816074	48018188	195181185	137	22573											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	25	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-BR-4370-01A-01D-1158-08	6148952	54167140	189032233	138	22574											
SPTBN1	6711	broad.mit.edu	37	chr2	54876812	54876812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacattgggcaggagcgcGtggacacggtcaatcacctg	15	10	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:54876812G>A	uc002rxu.2	+	26	5512	c.5263G>A	c.(5263-5265)GTG>ATG	p.V1755M	SPTBN1_uc002rxx.2_Missense_Mutation_p.V1742M|SPTBN1_uc002rxy.2_5'Flank	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1755	Interaction with ANK2.|Spectrin 14.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			GCAGGAGCGCGTGGACACGGT	0.552													A	54876812	G	A	54876812	3	1	25	1	0	0	0	0	1	0	0	0	15118	1145	40	1	5474	1	SPTBN1	2	54876812	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	709672	54876812	188322561	139	22575											
CCDC88A	55704	broad.mit.edu	37	chr2	55561925	55561926	+	Frame_Shift_Ins	INS	-	-	T													tttttaaagctatccaatgtINStttttttaattttctatttt							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:55561924_55561925G>GT	uc002ryv.2	-	14	2874_2875	c.2032_2033C>AC	c.(2032-2034)acafs	p.T678fs	CCDC88A_uc010ypa.1_Frame_Shift_Ins_p.T678fs|CCDC88A_uc010yoz.1_Frame_Shift_Ins_p.T678fs|CCDC88A_uc010ypb.1_Frame_Shift_Ins_p.T580fs|CCDC88A_uc002ryu.2_5'UTR|CCDC88A_uc002ryw.3_5'UTR	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	678					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GCTATCCAATGTTTTTTTTAAT	0.287													T	55561926	-	T	55561925	7	5	25	1	0	1	1	0	0	0	0	0	2863	1725	60	0	3655	0	CCDC88A	2	55561925	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	685113	55561925	187637448	140	22576											
EFEMP1	2202	broad.mit.edu	37	chr2	56098226	56098226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacacatttcatcctcccGgcattcatttgtggtctcac	5	15	3	0	rs121434491		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:56098226G>A	uc002rzh.2	-	9	1363	c.1033C>T	c.(1033-1035)CGG>TGG	p.R345W	EFEMP1_uc002rzi.2_Missense_Mutation_p.R345W|EFEMP1_uc002rzj.2_Missense_Mutation_p.R345W|EFEMP1_uc010ypc.1_Missense_Mutation_p.R207W	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	345	Mediates interaction with TIMP3.|EGF-like 6; calcium-binding (Potential).		R -> W (in DHRD; misfolded, accumulates in cells due to inefficient secretion; induces the formation of deposits between Bruch's membrane and the retinal pigment epithelium where it accumulates).		negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	p.R345W(1)		ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCATCCTCCCGGCATTCATTT	0.368													A	56098226	G	A	56098226	3	1	25	1	0	0	0	0	1	0	0	0	4941	1115	39	1	460	1	EFEMP1	2	56098226	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	536301	56098226	187101147	141	22577											
CCDC85A	114800	broad.mit.edu	37	chr2	56420402	56420402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatctccccagagccagggGcaccagcccggagcacctca	11	18	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:56420402G>A	uc002rzn.2	+	2	1569	c.1067G>A	c.(1066-1068)GGC>GAC	p.G356D		NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	356	His-rich.									breast(3)|ovary(2)	5			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGAGCCAGGGGCACCAGCCCG	0.637													A	56420402	G	A	56420402	3	1	25	1	0	0	0	0	1	0	0	0	2859	1203	42	2	1073	2	CCDC85A	2	56420402	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	322176	56420402	186778971	142	22578											
BCL11A	53335	broad.mit.edu	37	chr2	60687584	60687585	+	Frame_Shift_Ins	INS	-	-	T													acactcgatcactgtgccatINStttttcatgtgtttctccag							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:60687583_60687584A>AT	uc002sae.1	-	3	2691_2692	c.2463_2464T>AT	c.(2461-2466)aaatggfs	p.K821fs	BCL11A_uc002sab.3_Intron|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Intron|BCL11A_uc002sad.1_Frame_Shift_Ins_p.K669fs|BCL11A_uc002saf.1_Frame_Shift_Ins_p.K787fs	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	821					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCACTGTGCCATTTTTTCATGT	0.426			T	IGH@	B-CLL								T	60687585	-	T	60687584	7	5	25	1	0	1	1	0	0	0	0	0	1363	1490	52	0	154	0	BCL11A	2	60687584	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	4267182	60687584	182511789	143	22579											
MDH1	4190	broad.mit.edu	37	chr2	63832498	63832498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaagccatctgtgaccacGtcagggacatctggtttgga	11	10	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:63832498G>A	uc002scj.1	+	7	816	c.760G>A	c.(760-762)GTC>ATC	p.V254I	MDH1_uc010ypv.1_Missense_Mutation_p.V272I|MDH1_uc010ypw.1_Missense_Mutation_p.V159I	NM_005917	NP_005908	P40925	MDHC_HUMAN	cytosolic malate dehydrogenase	254					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			kidney(2)	2					NADH(DB00157)	CTGTGACCACGTCAGGGACAT	0.468													A	63832498	G	A	63832498	3	1	25	1	0	0	0	0	1	0	0	0	9408	1145	40	1	786	1	MDH1	2	63832498	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3144914	63832498	179366875	144	22580											
PROKR1	10887	broad.mit.edu	37	chr2	68873189	68873189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgctggtctgcggcattgGaaacttcatctttatcgctg	10	10	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:68873189G>A	uc010yqj.1	+	1	236	c.236G>A	c.(235-237)GGA>GAA	p.G79E	PROKR1_uc002ses.2_RNA	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	79	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1						TGCGGCATTGGAAACTTCATC	0.537													A	68873189	G	A	68873189	3	1	25	1	0	0	0	0	1	0	0	0	12552	1174	41	4	238	4	PROKR1	2	68873189	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	5040691	68873189	174326184	145	22581											
ARHGAP25	9938	broad.mit.edu	37	chr2	69014990	69014990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctcatgggaccagaatcGcatgggacaggactcctatg	12	11	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:69014990G>A	uc002seu.2	+	4	732	c.368G>A	c.(367-369)CGC>CAC	p.R123H	ARHGAP25_uc010yqk.1_Missense_Mutation_p.R97H|ARHGAP25_uc010fdg.2_Missense_Mutation_p.R123H|ARHGAP25_uc010yql.1_Intron|ARHGAP25_uc002sev.2_Missense_Mutation_p.R116H|ARHGAP25_uc002sew.2_Missense_Mutation_p.R116H|ARHGAP25_uc002sex.2_Missense_Mutation_p.R116H|ARHGAP25_uc010fdh.1_RNA	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	123	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						GACCAGAATCGCATGGGACAG	0.522													A	69014990	G	A	69014990	3	1	25	1	0	0	0	0	1	0	0	0	874	1087	38	1	422	1	ARHGAP25	2	69014990	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	141801	69014990	174184383	146	22582											
ARHGAP25	9938	broad.mit.edu	37	chr2	69034552	69034552	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccgtctgcctgggcaggAcaacctggtgaagcagctga	13	12	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:69034552A>G	uc002seu.2	+	5	975	c.611A>G	c.(610-612)GAC>GGC	p.D204G	ARHGAP25_uc010yqk.1_Missense_Mutation_p.D179G|ARHGAP25_uc010fdg.2_Missense_Mutation_p.D205G|ARHGAP25_uc010yql.1_Missense_Mutation_p.D165G|ARHGAP25_uc002sev.2_Missense_Mutation_p.D198G|ARHGAP25_uc002sew.2_Missense_Mutation_p.D197G|ARHGAP25_uc002sex.2_Missense_Mutation_p.D198G|ARHGAP25_uc010fdh.1_RNA|ARHGAP25_uc002sey.2_5'UTR	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	204	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						CCTGGGCAGGACAACCTGGTG	0.607													G	69034552	A	G	69034552	3	3	25	1	0	0	0	0	1	0	0	0	874	275	10	3	672	3	ARHGAP25	2	69034552	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	19562	69034552	174164821	147	22583											
TGFA	7039	broad.mit.edu	37	chr2	70741999	70741999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcactcaccactcagcGgggacgtgctgttctccaag	11	14	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:70741999G>A	uc002sgs.3	-	2	292	c.86C>T	c.(85-87)CCG>CTG	p.P29L	TGFA_uc010fdq.2_Missense_Mutation_p.P35L|TGFA_uc010fdr.2_Missense_Mutation_p.P35L|TGFA_uc002sgt.3_Missense_Mutation_p.P29L|TGFA_uc002sgu.2_Missense_Mutation_p.P29L|TGFA_uc002sgv.2_Missense_Mutation_p.P29L|TGFA_uc002sgw.2_Missense_Mutation_p.P29L	NM_003236	NP_003227	P01135	TGFA_HUMAN	transforming growth factor, alpha isoform 1	29	Extracellular (Potential).				activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity			prostate(1)	1						ACCACTCAGCGGGGACGTGCT	0.607													A	70741999	G	A	70741999	3	1	25	1	0	0	0	0	1	0	0	0	15812	1116	39	1	416	1	TGFA	2	70741999	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1707447	70741999	172457374	148	22584											
ATP6V1B1	525	broad.mit.edu	37	chr2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-													tttcttctccctcagatctaCccccccatcaacgtgctccc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:71191572_71191572AC>A	uc002shj.3	+	11	1235	c.1148_1148AC>A	c.(1147-1149)tacfs	p.Y383fs	ATP6V1B1_uc010fdx.3_Frame_Shift_Del_p.Y341fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	383					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATC	0.542											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	71191573	C	-	71191573	7	5	25	1	0	1	0	1	0	0	0	0	1178	518	18	0	1195	0	ATP6V1B1	2	71191573	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	449574	71191573	172007800	149	22585											
ALMS1	7840	broad.mit.edu	37	chr2	73681186	73681186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaagaggaaagccgggtacGagcacatggtaagaagaaag	16	5	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:73681186G>A	uc002sje.1	+	10	7646	c.7535G>A	c.(7534-7536)CGA>CAA	p.R2512Q	ALMS1_uc002sjf.1_Missense_Mutation_p.R2468Q|ALMS1_uc002sjg.2_Missense_Mutation_p.R1898Q|ALMS1_uc002sjh.1_Missense_Mutation_p.R1898Q	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2510					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						AGCCGGGTACGAGCACATGGT	0.368													A	73681186	G	A	73681186	3	1	25	1	0	0	0	0	1	0	0	0	535	1058	37	1	7559	1	ALMS1	2	73681186	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2489613	73681186	169518187	150	22586											
THNSL2	55258	broad.mit.edu	37	chr2	88482275	88482275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggtcgtggcagtgaaccGcaatgacatcatccacagga	11	11	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:88482275G>A	uc002ssz.3	+	6	1013	c.860G>A	c.(859-861)CGC>CAC	p.R287H	THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_Missense_Mutation_p.R287H|THNSL2_uc002ssx.3_Intron|THNSL2_uc002sta.3_Missense_Mutation_p.R129H|THNSL2_uc002ssy.3_Missense_Mutation_p.R287H|THNSL2_uc010fhe.2_Missense_Mutation_p.R129H	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2	287					threonine biosynthetic process		threonine synthase activity			ovary(1)	1						GCAGTGAACCGCAATGACATC	0.463													A	88482275	G	A	88482275	3	1	25	1	0	0	0	0	1	0	0	0	15860	1087	38	1	878	1	THNSL2	2	88482275	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	14801089	88482275	154717098	151	22587											
NCAPH	23397	broad.mit.edu	37	chr2	97019989	97019989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatcaatgctgaagttgaCgagagtgactgtggagactt	13	6	1	5			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:97019989C>T	uc002svz.1	+	9	1155	c.1071C>T	c.(1069-1071)GAC>GAT	p.D357D	NCAPH_uc010fhu.1_Silent_p.D333D|NCAPH_uc010fhv.1_Silent_p.D346D|NCAPH_uc010yum.1_Silent_p.D333D|NCAPH_uc010fhw.1_Silent_p.D346D|NCAPH_uc010yun.1_Silent_p.D221D|NCAPH_uc002swa.1_Translation_Start_Site	NM_015341	NP_056156	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	357					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)|skin(1)	2		Ovarian(717;0.0221)				CTGAAGTTGACGAGAGTGACT	0.498													T	97019989	C	T	97019989	2	4	25	1	0	0	0	0	0	0	0	1	10209	535	19	1		1	NCAPH	2	97019989	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	8537714	97019989	146179384	152	22588											
NCAPH	23397	broad.mit.edu	37	chr2	97025921	97025921	+	Frame_Shift_Del	DEL	A	A	-													gaaaacaaaaagaagagtacAaaaaaagattttgaaattga							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:97025920_97025920CA>C	uc002svz.1	+	10	1481	c.1397_1397CA>C	c.(1396-1398)acafs	p.T466fs	NCAPH_uc010fhv.1_Frame_Shift_Del_p.T455fs|NCAPH_uc010yum.1_Frame_Shift_Del_p.T442fs|NCAPH_uc010yun.1_Frame_Shift_Del_p.T330fs	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	466					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AAGAAGAGTACAAAAAAAGAT	0.328													-	97025921	A	-	97025921	7	5	25	1	0	1	0	1	0	0	0	0	10209	117	5	0	1440	0	NCAPH	2	97025921	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	5932	97025921	146173452	153	22589											
C2orf55	343990	broad.mit.edu	37	chr2	99439344	99439344	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctctcgggctccgtctcCgcttctctctcgggctcagg	10	18	5	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:99439344C>T	uc002szf.1	-	7	1686	c.1392G>A	c.(1390-1392)GCG>GCA	p.A464A		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	464	Pro-rich.										0						GCTCCGTCTCCGCTTCTCTCT	0.602													T	99439344	C	T	99439344	2	4	25	1	0	0	0	0	0	0	0	1	2176	639	23	1		1	C2orf55	2	99439344	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2413423	99439344	143760029	154	22590											
EIF5B	9669	broad.mit.edu	37	chr2	100010862	100010862	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaacatcagaagtgcccGtaagtaactacaactcgctc	7	11	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:100010862G>A	uc002tab.2	+	19	3196	c.3012_splice	c.e19+1	p.P1004_splice	EIF5B_uc010yvq.1_Splice_Site	NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B						regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						AGAAGTGCCCGTAAGTAACTA	0.423													A	100010862	G	A	100010862	5	1	25	1	0	0	0	0	0	0	1	0	5044	1159	40	1	3087	1	EIF5B	2	100010862	Splice_Site	SNP	G	TCGA-BR-4370-01A-01D-1158-08	571518	100010862	143188511	155	22591											
CREG2	200407	broad.mit.edu	37	chr2	101967439	101967439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccttgaaatactggatgcGcctccataccatttctgaag	7	12	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:101967439G>A	uc002tba.2	-	4	865	c.819C>T	c.(817-819)GGC>GGT	p.G273G		NM_153836	NP_722578	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	273						extracellular region	FMN binding			ovary(1)	1						TACTGGATGCGCCTCCATACC	0.448													A	101967439	G	A	101967439	2	1	25	1	0	0	0	0	0	0	0	1	3865	1074	38	1		1	CREG2	2	101967439	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1956577	101967439	141231934	156	22592											
NCK2	8440	broad.mit.edu	37	chr2	106498310	106498310	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcgtccccaaaaactaCgtggtggtcctcagtgacgg	12	13	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:106498310C>T	uc002tdg.2	+	4	1195	c.753C>T	c.(751-753)TAC>TAT	p.Y251Y	NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Silent_p.Y251Y	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	251	SH3 3.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			ovary(1)|lung(1)	2						CCAAAAACTACGTGGTGGTCC	0.647													T	106498310	C	T	106498310	2	4	25	1	0	0	0	0	0	0	0	1	10220	547	19	1		1	NCK2	2	106498310	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	4530871	106498310	136701063	157	22593											
UXS1	80146	broad.mit.edu	37	chr2	106715192	106715192	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacaaggtttttaattaacTgagcaaattctaggattgtg	8	5	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:106715192T>C	uc002tdm.2	-	13	1105	c.1007A>G	c.(1006-1008)CAG>CGG	p.Q336R	UXS1_uc002tdk.2_5'Flank|UXS1_uc002tdl.2_Missense_Mutation_p.Q168R|UXS1_uc002tdn.2_Missense_Mutation_p.Q341R|UXS1_uc002tdo.2_Missense_Mutation_p.Q279R	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	336	Lumenal (Potential).				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			ovary(2)	2						TTTAATTAACTGAGCAAATTC	0.418													C	106715192	T	C	106715192	3	2	25	1	0	0	0	0	1	0	0	0	17106	1580	55	3	267	3	UXS1	2	106715192	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	216882	106715192	136484181	158	22594											
ST6GAL2	84620	broad.mit.edu	37	chr2	107423342	107423342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggcacagctccgtctgcCgcacggatgggatatattca	12	11	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:107423342C>T	uc002tdq.2	-	6	1501	c.1382G>A	c.(1381-1383)CGG>CAG	p.R461Q	ST6GAL2_uc002tdr.2_Missense_Mutation_p.R461Q	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	461	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						CTCCGTCTGCCGCACGGATGG	0.517													T	107423342	C	T	107423342	3	4	25	1	0	0	0	0	1	0	0	0	15221	652	23	1	211	1	ST6GAL2	2	107423342	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	708150	107423342	135776031	159	22595											
ACOXL	55289	broad.mit.edu	37	chr2	111691125	111691125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggagctggtcaacagtcGctcgctgcaggctctggtgg	15	10	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:111691125G>A	uc002tgr.3	+	12	1189	c.965G>A	c.(964-966)CGC>CAC	p.R322H	ACOXL_uc010fkc.2_Missense_Mutation_p.R322H|ACOXL_uc010yxk.1_Missense_Mutation_p.R322H	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN	acyl-Coenzyme A oxidase-like 2	322					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity				0						GTCAACAGTCGCTCGCTGCAG	0.622													A	111691125	G	A	111691125	3	1	25	1	0	0	0	0	1	0	0	0	161	1087	38	1	1007	1	ACOXL	2	111691125	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	4267783	111691125	131508248	160	22596											
FBLN7	129804	broad.mit.edu	37	chr2	112942900	112942900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcggcaatgtgagctacGtgaagacgtctccattgtga	13	9	1	4			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:112942900G>A	uc002tho.1	+	7	1202	c.931G>A	c.(931-933)GTG>ATG	p.V311M	FBLN7_uc002thn.2_Missense_Mutation_p.V311M|FBLN7_uc010fki.1_Missense_Mutation_p.V265M|FBLN7_uc010fkj.1_Missense_Mutation_p.V177M	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	fibulin 7 isoform 1	311	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			ovary(1)|central_nervous_system(1)	2						TGTGAGCTACGTGAAGACGTC	0.612													A	112942900	G	A	112942900	3	1	25	1	0	0	0	0	1	0	0	0	5701	1145	40	1	957	1	FBLN7	2	112942900	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1251775	112942900	130256473	161	22597											
SLC35F5	80255	broad.mit.edu	37	chr2	114480774	114480774	+	Splice_Site	DEL	A	A	-													gaggtaagaaagcagcccctAaaaaaaagaaaatatacatt							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:114480773_114480773TA>T	uc002tku.1	-	13	1665	c.1251_splice	c.e13-1	p.W417_splice	SLC35F5_uc002tkt.3_Splice_Site|MIR4782_uc021vmz.1_5'Flank	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	417					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AAGCAGCCCCtaaaaaaaaga	0.338													-	114480774	A	-	114480774	8	5	25	1	0	1	0	1	0	0	1	0	14592	377	13	0		0	SLC35F5	2	114480774	Splice_Site	DEL	A	TCGA-BR-4370-01A-01D-1158-08	1537874	114480774	128718599	162	22598											
CCDC93	54520	broad.mit.edu	37	chr2	118732806	118732806	+	Frame_Shift_Del	DEL	T	T	-													tcttcctcgtgggcatcagcTttttctgtagctgacagccc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:118732805_118732805CT>C	uc002tlj.3	-	8	877	c.709_709AG>G	c.(709-711)gctfs	p.A237fs	CCDC93_uc010fld.2_Frame_Shift_Del_p.A293fs	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	237										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TGGGCATCAGCTTTTTCTGTA	0.517													-	118732806	T	-	118732806	7	5	25	1	0	1	0	1	0	0	0	0	2872	1606	56	0	1251	0	CCDC93	2	118732806	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	4252032	118732806	124466567	163	22599											
EN1	2019	broad.mit.edu	37	chr2	119604372	119604372	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcagccaccagaagctgCggtggcggctgctccttttt	13	14	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:119604372C>T	uc002tlm.2	-	1	1388	c.372G>A	c.(370-372)CCG>CCA	p.P124P		NM_001426	NP_001417	Q05925	HME1_HUMAN	engrailed homeobox 1	124					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)	2						CCAGAAGCTGCGGTGGCGGCT	0.667													T	119604372	C	T	119604372	2	4	25	1	0	0	0	0	0	0	0	1	5109	755	27	1		1	EN1	2	119604372	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	871566	119604372	123595001	164	22600											
WDR33	55339	broad.mit.edu	37	chr2	128477227	128477227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaggaccctggttctccCgggggcctggaggcccctgc	16	15	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:128477227C>T	uc002tpg.1	-	16	2555	c.2372G>A	c.(2371-2373)CGG>CAG	p.R791Q		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	791					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTGGTTCTCCCGGGGGCCTGG	0.612													T	128477227	C	T	128477227	3	4	25	1	0	0	0	0	1	0	0	0	17284	652	23	1	1666	1	WDR33	2	128477227	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	8872855	128477227	114722146	165	22601											
AMMECR1L	83607	broad.mit.edu	37	chr2	128628936	128628936	+	Splice_Site	DEL	A	A	-													cacgtcacaaagagcggactAaaaaaagcaaaacacaaaac							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:128628935_128628935TA>T	uc002tpl.3	-	4	659	c.408_splice	c.e4-1	p.Y136_splice	AMMECR1L_uc002tpm.3_Splice_Site_p.Y136_splice	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	Homo sapiens AMME chromosomal region gene 1-like (AMMECR1L), transcript variant 1, mRNA.	136	AMMECR1.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		AAGAGCGGACTAAAAAAAGCA	0.438													-	128628936	A	-	128628936	8	5	25	1	0	1	0	1	0	0	1	0	579	377	13	0		0	AMMECR1L	2	128628936	Splice_Site	DEL	A	TCGA-BR-4370-01A-01D-1158-08	151709	128628936	114570437	166	22602											
ACMSD	130013	broad.mit.edu	37	chr2	135625178	135625178	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggctgaagtgttccctgttCgtgcatccctgggacatgca	12	11	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:135625178C>T	uc002ttz.2	+	6	583	c.516C>T	c.(514-516)TTC>TTT	p.F172F	ACMSD_uc002tua.2_Silent_p.F114F|uc010zbe.1_RNA	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	172					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.115)		GTTCCCTGTTCGTGCATCCCT	0.507													T	135625178	C	T	135625178	2	4	25	1	0	0	0	0	0	0	0	1	144	883	31	1		1	ACMSD	2	135625178	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	6996242	135625178	107574195	167	22603											
RBM43	375287	broad.mit.edu	37	chr2	152112048	152112048	+	Splice_Site	DEL	T	T	-													aaatttgacttggaaataccTtttttttctttgaatattac							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:152112047_152112047CT>C	uc002txh.3	-	2	362	c.214_splice	c.e2+1	p.V72_splice		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	Homo sapiens RNA binding motif protein 43 (RBM43), mRNA.	72	RRM.						RNA binding|nucleotide binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTGGAAATACCTTTTTTTTCT	0.284													-	152112048	T	-	152112048	8	5	25	1	0	1	0	1	0	0	1	0	13137	1623	56	0	872	0	RBM43	2	152112048	Splice_Site	DEL	T	TCGA-BR-4370-01A-01D-1158-08	16486870	152112048	91087325	168	22604											
RIF1	55183	broad.mit.edu	37	chr2	152320989	152320989	+	Frame_Shift_Del	DEL	A	A	-													tttaccaaatgtgtgtgaggAaaaaaatgaaactagcaaat							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:152320988_152320988GA>G	uc002txm.3	+	29	5115	c.4954_4954GA>G	c.(4954-4956)gaafs	p.E1652fs	RIF1_uc002txn.3_Frame_Shift_Del_p.E1652fs|RIF1_uc002txl.3_Frame_Shift_Del_p.E1652fs|RIF1_uc002txo.3_Frame_Shift_Del_p.E1652fs|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	1652					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGTGTGTGAGGAAAAAAATGA	0.328													-	152320989	A	-	152320989	7	5	25	1	0	1	0	1	0	0	0	0	13359	246	9	0	5069	0	RIF1	2	152320989	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	208941	152320989	90878384	169	22605											
GALNT5	11227	broad.mit.edu	37	chr2	158167733	158167734	+	Frame_Shift_Ins	INS	-	-	T													ctccaggtgaatcacattgtINSttttgaaaacaatcagcaat							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:158167732_158167733G>GT	uc002tzg.3	+	9	2950_2951	c.2695_2696G>GT	c.(2695-2697)gttfs	p.V899fs	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	899	Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GAATCACATTGTTTTTGAAAAC	0.366													T	158167734	-	T	158167733	7	5	25	1	0	1	1	0	0	0	0	0	6216	1725	60	0	2734	0	GALNT5	2	158167733	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	5846744	158167733	85031640	170	22606											
FAP	2191	broad.mit.edu	37	chr2	163055294	163055294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaagtgcatagtacttggCgtagtcgctgaaacttgctg	12	8	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:163055294C>T	uc002ucd.2	-	16	1583	c.1375G>A	c.(1375-1377)GCC>ACC	p.A459T	FAP_uc010fpc.2_5'UTR|FAP_uc010zct.1_Missense_Mutation_p.A434T|FAP_uc010fpd.2_5'UTR	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	459	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3						TAGTACTTGGCGTAGTCGCTG	0.463													T	163055294	C	T	163055294	3	4	25	1	0	0	0	0	1	0	0	0	5673	768	27	1	951	1	FAP	2	163055294	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	4887561	163055294	80144079	171	22607											
SCN3A	6328	broad.mit.edu	37	chr2	165956828	165956828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaccctcatgccttcaaacCgggataaggctcttagaggt	9	11	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:165956828C>T	uc002ucx.2	-	22	4442	c.3950G>A	c.(3949-3951)CGG>CAG	p.R1317Q	SCN3A_uc002ucy.2_Missense_Mutation_p.R1268Q|SCN3A_uc002ucz.2_Missense_Mutation_p.R1268Q|SCN3A_uc002uda.1_Missense_Mutation_p.R1137Q|SCN3A_uc002udb.1_Missense_Mutation_p.R1137Q	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1317	Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	GCCTTCAAACCGGGATAAGGC	0.403													T	165956828	C	T	165956828	3	4	25	1	0	0	0	0	1	0	0	0	13918	652	23	1	2080	1	SCN3A	2	165956828	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2901534	165956828	77242545	172	22608											
SCN3A	6328	broad.mit.edu	37	chr2	165984285	165984285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatcattttcatcgattacGtatttttcaacactgcttcc	3	10	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:165984285G>A	uc002ucx.2	-	18	3741	c.3249C>T	c.(3247-3249)TAC>TAT	p.Y1083Y	SCN3A_uc002ucy.2_Silent_p.Y1034Y|SCN3A_uc002ucz.2_Silent_p.Y1034Y|SCN3A_uc002uda.1_Silent_p.Y903Y|SCN3A_uc002udb.1_Silent_p.Y903Y	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1083						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	CATCGATTACGTATTTTTCAA	0.378													A	165984285	G	A	165984285	2	1	25	1	0	0	0	0	0	0	0	1	13918	1140	40	1		1	SCN3A	2	165984285	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	27457	165984285	77215088	173	22609											
CYBRD1	79901	broad.mit.edu	37	chr2	172409896	172409896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttctgcttccatgggctcCgctttctctccgagcatttc	7	15	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:172409896C>T	uc002ugy.3	+	3	633	c.443C>T	c.(442-444)CCG>CTG	p.P148L	CYBRD1_uc002ugz.3_Silent_p.S78S	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1 isoform 1	148	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding				0						CCATGGGCTCCGCTTTCTCTC	0.363													T	172409896	C	T	172409896	3	4	25	1	0	0	0	0	1	0	0	0	4134	652	23	1	453	1	CYBRD1	2	172409896	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	6425611	172409896	70789477	174	22610											
ZAK	51776	broad.mit.edu	37	chr2	174074513	174074513	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtccatgtcaaatgacacGagccttcctgacaagtgtaa	9	10	1	2	rs145549000		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:174074513G>A	uc002uhz.2	+	10	1001	c.801G>A	c.(799-801)ACG>ACA	p.T267T	ZAK_uc002uhx.2_Silent_p.T267T|ZAK_uc002uhy.2_Silent_p.T267T|ZAK_uc010zei.1_Silent_p.T166T|ZAK_uc002uia.1_Silent_p.T267T|uc002uib.2_RNA	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	267	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)			CAAATGACACGAGCCTTCCTG	0.468													A	174074513	G	A	174074513	2	1	25	1	0	0	0	0	0	0	0	1	17509	1045	37	1		1	ZAK	2	174074513	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1664617	174074513	69124860	175	22611											
SP3	6670	broad.mit.edu	37	chr2	174774779	174774779	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attaacagttcctatccctgAaacagaaccttgttgaatat	5	9	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:174774779A>G	uc002uig.2	-	7	2400	c.2236T>C	c.(2236-2238)TCA>CCA	p.S746P	SP3_uc002uie.2_Missense_Mutation_p.S678P|SP3_uc002uif.2_Missense_Mutation_p.S693P|SP3_uc010zel.1_Missense_Mutation_p.S743P	NM_003111	NP_003102	Q02447	SP3_HUMAN	Sp3 transcription factor isoform 1	746					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CCTATCCCTGAAACAGAACCT	0.433													G	174774779	A	G	174774779	3	3	25	1	0	0	0	0	1	0	0	0	14965	246	9	3	113	3	SP3	2	174774779	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	700266	174774779	68424594	176	22612											
EVX2	344191	broad.mit.edu	37	chr2	176948177	176948177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctcatgtcggcctcagCggccgcctctgaataatggc	12	14	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:176948177C>T	uc010zeu.1	-	1	514	c.328G>A	c.(328-330)GCT>ACT	p.A110T		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	110						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TCGGCCTCAGCGGCCGCCTCT	0.657													T	176948177	C	T	176948177	3	4	25	1	0	0	0	0	1	0	0	0	5295	768	27	1	1112	1	EVX2	2	176948177	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2173398	176948177	66251196	177	22613											
TTN	7273	broad.mit.edu	37	chr2	179391930	179391930	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttccaccacaggaccatgTtacttctggggtaggctcac	9	13	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:179391930T>C	uc010zfg.1	-	312	100305	c.100081A>G	c.(100081-100083)ACA>GCA	p.T33361A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T27056A|TTN_uc010zfi.1_Missense_Mutation_p.T26989A|TTN_uc010zfj.1_Missense_Mutation_p.T26864A|TTN_uc002umq.2_Missense_Mutation_p.T277A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	34288							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGACCATGTTACTTCTGGG	0.463													C	179391930	T	C	179391930	3	2	25	1	0	0	0	0	1	0	0	0	16732	1725	60	3	194	3	TTN	2	179391930	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	2443753	179391930	63807443	178	22614											
TTN	7273	broad.mit.edu	37	chr2	179395635	179395635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttcacccgaggctctgggGatttgactcttggtggtgat	13	8	3	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:179395635G>A	uc010zfg.1	-	307	98227	c.98003C>T	c.(98002-98004)TCC>TTC	p.S32668F	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S26363F|TTN_uc010zfi.1_Missense_Mutation_p.S26296F|TTN_uc010zfj.1_Missense_Mutation_p.S26171F|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33595							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGCTCTGGGGATTTGACTCT	0.478													A	179395635	G	A	179395635	3	1	25	1	0	0	0	0	1	0	0	0	16732	1174	41	4	2292	4	TTN	2	179395635	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3705	179395635	63803738	179	22615											
TTN	7273	broad.mit.edu	37	chr2	179426759	179426759	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actgtttgaaacacataattCataagttccaacatcttcct	3	10	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:179426759C>T	uc010zfg.1	-	275	76620	c.76396G>A	c.(76396-76398)GAA>AAA	p.E25466K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E19161K|TTN_uc010zfi.1_Missense_Mutation_p.E19094K|TTN_uc010zfj.1_Missense_Mutation_p.E18969K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26393							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACATAATTCATAAGTTCCA	0.373													T	179426759	C	T	179426759	3	4	25	1	0	0	0	0	1	0	0	0	16732	835	29	4	24027	4	TTN	2	179426759	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	31124	179426759	63772614	180	22616											
TTN	7273	broad.mit.edu	37	chr2	179428010	179428010	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggagtgcaggttgtccAttcatccgcagcagcttctt	12	10	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:179428010A>G	uc010zfg.1	-	275	75369	c.75145T>C	c.(75145-75147)TGG>CGG	p.W25049R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.W18744R|TTN_uc010zfi.1_Missense_Mutation_p.W18677R|TTN_uc010zfj.1_Missense_Mutation_p.W18552R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25976							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGTTGTCCATTCATCCGCA	0.448													G	179428010	A	G	179428010	3	3	25	1	0	0	0	0	1	0	0	0	16732	217	8	3	25278	3	TTN	2	179428010	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	1251	179428010	63771363	181	22617											
TTN	7273	broad.mit.edu	37	chr2	179440367	179440367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacacccttcagacaagcCggtaactttatatgtgcatt	6	11	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:179440367C>T	uc010zfg.1	-	275	63012	c.62788G>A	c.(62788-62790)GGC>AGC	p.G20930S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G14625S|TTN_uc010zfi.1_Missense_Mutation_p.G14558S|TTN_uc010zfj.1_Missense_Mutation_p.G14433S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21857							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGACAAGCCGGTAACTTTA	0.418													T	179440367	C	T	179440367	3	4	25	1	0	0	0	0	1	0	0	0	16732	652	23	1	37635	1	TTN	2	179440367	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	12357	179440367	63759006	182	22618											
TTN	7273	broad.mit.edu	37	chr2	179472567	179472567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcggtccttcccctgcGgcattgacagcactcacccg	10	18	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:179472567G>A	uc010zfg.1	-	225	45467	c.45243C>T	c.(45241-45243)GCC>GCT	p.A15081A	uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A8776A|TTN_uc010zfi.1_Silent_p.A8709A|TTN_uc010zfj.1_Silent_p.A8584A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16008							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCCCCTGCGGCATTGACAG	0.463													A	179472567	G	A	179472567	2	1	25	1	0	0	0	0	0	0	0	1	16732	1103	39	1		1	TTN	2	179472567	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	32200	179472567	63726806	183	22619											
PDE1A	5136	broad.mit.edu	37	chr2	183094749	183094749	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaccatgatacctgtatgaAgcattatgtaatgcacagtt	7	7	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:183094749A>C	uc002uos.2	-	7	791	c.707T>G	c.(706-708)CTT>CGT	p.L236R	PDE1A_uc010zfp.1_Missense_Mutation_p.L132R|PDE1A_uc002uoq.1_Missense_Mutation_p.L236R|PDE1A_uc010zfq.1_Missense_Mutation_p.L236R|PDE1A_uc002uor.2_Missense_Mutation_p.L220R|PDE1A_uc002uou.2_Missense_Mutation_p.L202R	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 2	236	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ACCTGTATGAAGCATTATGTA	0.348													C	183094749	A	C	183094749	3	2	25	1	0	0	0	0	1	0	0	0	11633	72	3	5	1014	5	PDE1A	2	183094749	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	3622182	183094749	60104624	184	22620											
FRZB	2487	broad.mit.edu	37	chr2	183731002	183731002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcaatggtgcagatgggCgcgtacatggcacagaggaa	15	7	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:183731002C>T	uc002upa.1	-	1	497	c.279G>A	c.(277-279)GCG>GCA	p.A93A		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	frizzled-related protein precursor	93	FZ.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TGCAGATGGGCGCGTACATGG	0.612													T	183731002	C	T	183731002	2	4	25	1	0	0	0	0	0	0	0	1	6065	755	27	1		1	FRZB	2	183731002	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	636253	183731002	59468371	185	22621											
FAM171B	165215	broad.mit.edu	37	chr2	187626384	187626384	+	Frame_Shift_Del	DEL	A	A	-													actcctcatatagtcctcagAaaaaggaaccatcaaaggca							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:187626383_187626383GA>G	uc002ups.3	+	7	1426	c.1314_1314GA>G	c.(1312-1314)cagfs	p.Q438fs	FAM171B_uc002upr.1_Intron|FAM171B_uc002upt.3_5'Flank	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	438						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ATAGTCCTCAGAAAAAGGAAC	0.353													-	187626384	A	-	187626384	7	5	25	1	0	1	0	1	0	0	0	0	5491	247	9	0	1345	0	FAM171B	2	187626384	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	3895382	187626384	55572989	186	22622											
WDR75	84128	broad.mit.edu	37	chr2	190328454	190328454	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgaaaccttgaagcatcCgcagtaattcaaggcctagt	8	12	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:190328454C>T	uc002uql.1	+	10	1032	c.972C>T	c.(970-972)TCC>TCT	p.S324S	WDR75_uc002uqm.1_Silent_p.S260S|WDR75_uc002uqn.1_Silent_p.S102S|WDR75_uc002uqo.1_Silent_p.S102S	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	324	WD 5.					nucleolus				ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TTGAAGCATCCGCAGTAATTC	0.299													T	190328454	C	T	190328454	2	4	25	1	0	0	0	0	0	0	0	1	17322	639	23	1		1	WDR75	2	190328454	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2702070	190328454	52870919	187	22623											
DNAH7	56171	broad.mit.edu	37	chr2	196759791	196759791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaatcataaaaccatgaCgcacaatcatcatttcatat	2	11	4	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:196759791C>T	uc002utj.3	-	30	4906	c.4805G>A	c.(4804-4806)CGT>CAT	p.R1602H		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1602	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						AAAACCATGACGCACAATCAT	0.373													T	196759791	C	T	196759791	3	4	25	1	0	0	0	0	1	0	0	0	4606	536	19	1	7413	1	DNAH7	2	196759791	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	6431337	196759791	46439582	188	22624											
STK17B	9262	broad.mit.edu	37	chr2	197008310	197008310	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attctggtgttcccatgattTcccgaagttcacacgcatgc	8	12	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:197008310T>C	uc002utk.2	-	5	905	c.581A>G	c.(580-582)GAA>GGA	p.E194G	STK17B_uc010fsh.2_Missense_Mutation_p.E194G	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	194	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)			TCCCATGATTTCCCGAAGTTC	0.333													C	197008310	T	C	197008310	3	2	25	1	0	0	0	0	1	0	0	0	15290	1783	62	3	553	3	STK17B	2	197008310	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	248519	197008310	46191063	189	22625											
HECW2	57520	broad.mit.edu	37	chr2	197080603	197080603	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttacctgggaagagcagtGattttcccccatttctccac	7	12	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:197080603G>A	uc002utm.1	-	28	4776	c.4593C>T	c.(4591-4593)ATC>ATT	p.I1531I	HECW2_uc002utl.1_Silent_p.I1175I	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	1531	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						GAAGAGCAGTGATTTTCCCCC	0.378													A	197080603	G	A	197080603	2	1	25	1	0	0	0	0	0	0	0	1	7043	1280	45	4		4	HECW2	2	197080603	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	72293	197080603	46118770	190	22626											
FAM117B	150864	broad.mit.edu	37	chr2	203620321	203620321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccaaatcaacaggctccCggttccggaatagcgtggaa	10	12	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:203620321C>T	uc010zhx.1	+	5	1031	c.1021C>T	c.(1021-1023)CGG>TGG	p.R341W		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	341										ovary(1)	1						AACAGGCTCCCGGTTCCGGAA	0.413													T	203620321	C	T	203620321	3	4	25	1	0	0	0	0	1	0	0	0	5410	643	23	1	1039	1	FAM117B	2	203620321	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	6539718	203620321	39579052	191	22627											
TMBIM1	64114	broad.mit.edu	37	chr2	219144816	219144816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgaagctatcactcactGctctctcctccccatcatag	5	18	4	0	rs147296873		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:219144816G>A	uc002vho.1	-	4	962	c.236C>T	c.(235-237)GCA>GTA	p.A79V	PNKD_uc002vhn.2_Intron|TMBIM1_uc002vhp.1_Missense_Mutation_p.A79V|TMBIM1_uc010zjz.1_5'UTR|TMBIM1_uc010zka.1_5'UTR	NM_022152	NP_071435	Q969X1	TMBI1_HUMAN	transmembrane BAX inhibitor motif containing 1	79						integral to membrane					0		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCACTCACTGCTCTCTCCTC	0.572													A	219144816	G	A	219144816	3	1	25	1	0	0	0	0	1	0	0	0	15978	1319	46	2	739	2	TMBIM1	2	219144816	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	15524495	219144816	24054557	192	22628											
SPEG	10290	broad.mit.edu	37	chr2	220336640	220336640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggggcctcagcacgccGgtgtctacaagagcgtcatt	13	13	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:220336640G>A	uc010fwg.2	+	14	3766	c.3766G>A	c.(3766-3768)GGT>AGT	p.G1256S		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1256	Ig-like 6.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCAGCACGCCGGTGTCTACAA	0.622													A	220336640	G	A	220336640	3	1	25	1	0	0	0	0	1	0	0	0	15035	1116	39	1	3832	1	SPEG	2	220336640	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1191824	220336640	22862733	193	22629											
STK11IP	114790	broad.mit.edu	37	chr2	220473425	220473425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggaactccaagcagctcGcaccttggagcgactggagc	14	12	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:220473425G>A	uc002vml.2	+	15	1800	c.1757G>A	c.(1756-1758)CGC>CAC	p.R586H	STK11IP_uc010zll.1_Missense_Mutation_p.R543H|STK11IP_uc002vmm.1_Missense_Mutation_p.R575H	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein	586	Glu-rich.				protein localization	cytoplasm	protein kinase binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAAGCAGCTCGCACCTTGGAG	0.652													A	220473425	G	A	220473425	3	1	25	1	0	0	0	0	1	0	0	0	15287	1087	38	1	1815	1	STK11IP	2	220473425	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	136785	220473425	22725948	194	22630											
CCDC140	151278	broad.mit.edu	37	chr2	223168942	223168942	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatccaactccacccgggcGtctcctgagagcgcacagtc	9	16	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:223168942G>A	uc002vnb.1	+	2	705	c.321G>A	c.(319-321)GCG>GCA	p.A107A		NM_153038	NP_694583	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	107											0		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACCCGGGCGTCTCCTGAGA	0.637													A	223168942	G	A	223168942	2	1	25	1	0	0	0	0	0	0	0	1	2774	1132	40	1		1	CCDC140	2	223168942	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2695517	223168942	20030431	195	22631											
MFF	56947	broad.mit.edu	37	chr2	228195480	228195480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaagtagcaccgccaaaCgctgacctggaacaaggatt	9	10	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:228195480C>T	uc002vos.2	+	4	595	c.177C>T	c.(175-177)AAC>AAT	p.N59N	MFF_uc002vot.2_Silent_p.N33N|MFF_uc002vou.2_Silent_p.N59N|MFF_uc002vov.2_Silent_p.N33N|MFF_uc002vow.2_Silent_p.N33N|MFF_uc002vox.2_Silent_p.N33N|MFF_uc002voy.2_Silent_p.N59N|MFF_uc002voz.2_Silent_p.N33N	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	59	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane				large_intestine(1)	1						CACCGCCAAACGCTGACCTGG	0.423													T	228195480	C	T	228195480	2	4	25	1	0	0	0	0	0	0	0	1	9519	535	19	1		1	MFF	2	228195480	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	5026538	228195480	15003893	196	22632											
TRIP12	9320	broad.mit.edu	37	chr2	230724116	230724117	+	Frame_Shift_Ins	INS	-	-	T													tatgctgaagtgcttttggtINSttttttgcagagctaggaga							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:230724115_230724116G>GT	uc002vpx.1	-	3	508_509	c.399_400C>AC	c.(397-402)aaaccafs	p.K133fs	TRIP12_uc021vxw.1_Frame_Shift_Ins_p.K91fs|TRIP12_uc002vpy.1_Intron|TRIP12_uc002vpw.1_Frame_Shift_Ins_p.K91fs|TRIP12_uc010zlz.1_Non-coding_Transcript|TRIP12_uc010fxh.1_Frame_Shift_Ins_p.K91fs	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	91					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGTGCTTTTGGTTTTTTTGCAG	0.436													T	230724117	-	T	230724116	7	5	25	1	0	1	1	0	0	0	0	0	16553	1722	60	0	5861	0	TRIP12	2	230724116	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	2528636	230724116	12475257	197	22633											
GPR55	9290	broad.mit.edu	37	chr2	231775009	231775009	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgcgatgctgtagatgcaGgctttctgctgcacccagtc	12	12	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:231775009G>T	uc002vrg.2	-	2	862	c.669C>A	c.(667-669)GCC>GCA	p.A223A	GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Silent_p.A223A	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	223	Cytoplasmic (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		TGTAGATGCAGGCTTTCTGCT	0.597													T	231775009	G	T	231775009	2	4	25	1	0	0	0	0	0	0	0	1	6699	987	35	5		5	GPR55	2	231775009	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1050893	231775009	11424364	198	22634											
NGEF	25791	broad.mit.edu	37	chr2	233756178	233756178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctgcgcgatcagctcccGgaaagctgccttctcctggc	11	15	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:233756178G>A	uc002vts.2	-	8	1410	c.1162C>T	c.(1162-1164)CGG>TGG	p.R388W	NGEF_uc010zmm.1_Missense_Mutation_p.R111W|NGEF_uc010fyg.1_Missense_Mutation_p.R296W	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	388	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)|skin(1)	7		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		ATCAGCTCCCGGAAAGCTGCC	0.612													A	233756178	G	A	233756178	3	1	25	1	0	0	0	0	1	0	0	0	10394	1115	39	1	1002	1	NGEF	2	233756178	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1981169	233756178	9443195	199	22635											
DGKD	8527	broad.mit.edu	37	chr2	234343474	234343474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattggtacgcctgttcccaCgcgaggccgacctactgcaa	10	14	0	0	rs150294529		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:234343474C>T	uc002vui.1	+	5	525	c.513C>T	c.(511-513)CAC>CAT	p.H171H	DGKD_uc002vuj.1_Silent_p.H127H|DGKD_uc010fyh.1_Silent_p.H38H|DGKD_uc002vuk.1_Silent_p.H38H	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	171	Phorbol-ester/DAG-type 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CCTGTTCCCACGCGAGGCCGA	0.562													T	234343474	C	T	234343474	2	4	25	1	0	0	0	0	0	0	0	1	4467	535	19	1		1	DGKD	2	234343474	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	587296	234343474	8855899	200	22636											
HJURP	55355	broad.mit.edu	37	chr2	234754463	234754463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagggctttgaggcactgCaggctgatcaaaaaagagaa	12	7	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:234754463C>T	uc002vvg.2	-	6	472	c.406G>A	c.(406-408)GCA>ACA	p.A136T	HJURP_uc010znd.1_Missense_Mutation_p.A75T|HJURP_uc010zne.1_Intron	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	136					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TGAGGCACTGCAGGCTGATCA	0.378													T	234754463	C	T	234754463	3	4	25	1	0	0	0	0	1	0	0	0	7189	710	25	2	1856	2	HJURP	2	234754463	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	410989	234754463	8444910	201	22637											
GBX2	2637	broad.mit.edu	37	chr2	237074757	237074757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctcgctgagtttgagggCgtgggcgatctgcgagcgct	16	11	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:237074757C>T	uc002vvw.1	-	2	885	c.847G>A	c.(847-849)GCC>ACC	p.A283T	GBX2_uc010zng.1_3'UTR	NM_001485	NP_001476	P52951	GBX2_HUMAN	gastrulation brain homeo box 2	283	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		AGTTTGAGGGCGTGGGCGATC	0.587													T	237074757	C	T	237074757	3	4	25	1	0	0	0	0	1	0	0	0	6281	768	27	1	203	1	GBX2	2	237074757	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2320294	237074757	6124616	202	22638											
COL6A3	1293	broad.mit.edu	37	chr2	238274435	238274435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctggctgcgcatgttcCggaacttctcgagcatctct	12	12	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:238274435C>T	uc002vwl.2	-	12	6029	c.5744G>A	c.(5743-5745)CGG>CAG	p.R1915Q	COL6A3_uc002vwo.2_Missense_Mutation_p.R1709Q|COL6A3_uc010znj.1_Missense_Mutation_p.R1308Q	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1915	VWFA 10.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCGCATGTTCCGGAACTTCTC	0.612													T	238274435	C	T	238274435	3	4	25	1	0	0	0	0	1	0	0	0	3701	652	23	1	3921	1	COL6A3	2	238274435	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1199678	238274435	4924938	203	22639											
AGXT	189	broad.mit.edu	37	chr2	241818169	241818169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggctgcaatgccacccgCgagaatgtggaccgcgtgac	14	13	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:241818169C>T	uc002waa.3	+	11	1231	c.1110C>T	c.(1108-1110)CGC>CGT	p.R370R	AGXT_uc002wab.3_Silent_p.R248R	NM_000030	NP_000021	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	370					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity				0		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ATGCCACCCGCGAGAATGTGG	0.697													T	241818169	C	T	241818169	2	4	25	1	0	0	0	0	0	0	0	1	404	755	27	1		1	AGXT	2	241818169	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3543734	241818169	1381204	204	22640											
SNED1	25992	broad.mit.edu	37	chr2	242009422	242009422	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccccgactccaggcagctTgctggaggcttatgtcatca	11	13	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:242009422T>C	uc002wah.1	+	24	3395	c.3395T>C	c.(3394-3396)TTG>TCG	p.L1132S	SNED1_uc002wai.1_Missense_Mutation_p.L367S|SNED1_uc002waj.1_Missense_Mutation_p.L219S|SNED1_uc002wak.2_Missense_Mutation_p.L219S|SNED1_uc002wal.2_5'Flank	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	1132	Fibronectin type-III 3.				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CCAGGCAGCTTGCTGGAGGCT	0.647													C	242009422	T	C	242009422	3	2	25	1	0	0	0	0	1	0	0	0	14845	1821	63	3	3489	3	SNED1	2	242009422	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	191253	242009422	1189951	205	22641											
PDCD1	5133	broad.mit.edu	37	chr2	242793372	242793372	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacagggcacggggggctcCggggtcttctctcgccactg	15	14	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:242793372C>T	uc002wcq.3	-	5	773	c.705G>A	c.(703-705)CCG>CCA	p.P235P	PDCD1_uc010fzs.2_Silent_p.P114P|PDCD1_uc010fzt.2_RNA	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	programmed cell death 1 precursor	235	Cytoplasmic (Potential).				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			ovary(1)	1		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		CGGGGGGCTCCGGGGTCTTCT	0.622													T	242793372	C	T	242793372	2	4	25	1	0	0	0	0	0	0	0	1	11615	639	23	1		1	PDCD1	2	242793372	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	783950	242793372	406001	206	22642											
HRH1	3269	broad.mit.edu	37	chr3	11301418	11301418	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcatcaataggtccctccCttccttctcagaaattaagc	5	14	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:11301418C>A	uc010hdr.2	+	2	1037	c.695C>A	c.(694-696)CCT>CAT	p.P232H	HRH1_uc010hds.2_Missense_Mutation_p.P232H|HRH1_uc010hdt.2_Missense_Mutation_p.P232H|HRH1_uc003bwb.3_Missense_Mutation_p.P232H	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	232	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			large_intestine(1)|ovary(1)	2					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	AGGTCCCTCCCTTCCTTCTCA	0.532													A	11301418	C	A	11301418	3	1	25	1	0	0	0	0	1	0	0	0	7355	681	24	5	697	5	HRH1	3	11301418	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08		11301418	186721012	207	22643											
C3orf31	132001	broad.mit.edu	37	chr3	11871205	11871205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctgaataggagagaccgGcaatctctatgaagaggtct	11	8	2	4			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:11871205G>A	uc003bwh.2	-	4	787	c.545C>T	c.(544-546)GCC>GTC	p.A182V	C3orf31_uc003bwj.2_Missense_Mutation_p.A182V|C3orf31_uc003bwi.2_RNA|C3orf31_uc011auo.1_Missense_Mutation_p.A182V|C3orf31_uc011aup.1_RNA	NM_138807	NP_620162	Q96BW9	MMP37_HUMAN	MMP37-like protein, mitochondrial precursor	182					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane					0						GGAGAGACCGGCAATCTCTAT	0.473													A	11871205	G	A	11871205	3	1	25	1	0	0	0	0	1	0	0	0	2221	1203	42	2	421	2	C3orf31	3	11871205	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	569787	11871205	186151225	208	22644											
SYN2	6854	broad.mit.edu	37	chr3	12211375	12211375	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggactcctgccctgtctcCtcagagacccctaacaaccc	6	19	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:12211375C>A	uc003bwm.2	+	14	1441	c.1277C>A	c.(1276-1278)CCT>CAT	p.P426H	SYN2_uc003bwl.1_Missense_Mutation_p.P426H|SYN2_uc003bwn.2_Missense_Mutation_p.P100H	NM_133625	NP_598328	Q92777	SYN2_HUMAN	synapsin II isoform IIa	426					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			ovary(1)|central_nervous_system(1)	2						GCCCTGTCTCCTCAGAGACCC	0.537													A	12211375	C	A	12211375	3	1	25	1	0	0	0	0	1	0	0	0	15438	681	24	5	1316	5	SYN2	3	12211375	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	340170	12211375	185811055	209	22645											
TSEN2	80746	broad.mit.edu	37	chr3	12545181	12545181	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagacggcagccagcacatCggcctcctgcatcctgggga	13	14	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:12545181C>T	uc003bxc.2	+	5	1116	c.729C>T	c.(727-729)ATC>ATT	p.I243I	TSEN2_uc003bwy.2_Silent_p.I243I|TSEN2_uc003bwz.2_Silent_p.I184I|TSEN2_uc003bxa.2_Silent_p.I243I|TSEN2_uc011auq.1_Silent_p.I243I|TSEN2_uc003bxb.2_Silent_p.I243I|TSEN2_uc011aur.1_Silent_p.I152I	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	tRNA-intron nuclease 2 isoform 1	243					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(1)	1						GCCAGCACATCGGCCTCCTGC	0.602													T	12545181	C	T	12545181	2	4	25	1	0	0	0	0	0	0	0	1	16609	874	31	1		1	TSEN2	3	12545181	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	333806	12545181	185477249	210	22646											
CAND2	23066	broad.mit.edu	37	chr3	12869032	12869032	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcactgcttgagagctgcCtgggccagctggatatctgt	12	10	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:12869032C>A	uc003bxk.2	+	13	3353	c.3304C>A	c.(3304-3306)CTG>ATG	p.L1102M	CAND2_uc003bxj.2_Missense_Mutation_p.L985M	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	1102					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						TGAGAGCTGCCTGGGCCAGCT	0.567													A	12869032	C	A	12869032	3	1	25	1	0	0	0	0	1	0	0	0	2616	680	24	5	3354	5	CAND2	3	12869032	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	323851	12869032	185153398	211	22647											
NUP210	23225	broad.mit.edu	37	chr3	13381471	13381471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgctcaccagcgcaacGctctcattgctgatggagaa	11	13	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:13381471G>A	uc003bxv.1	-	25	3437	c.3354C>T	c.(3352-3354)AGC>AGT	p.S1118S		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1118	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					CCAGCGCAACGCTCTCATTGC	0.627													A	13381471	G	A	13381471	2	1	25	1	0	0	0	0	0	0	0	1	10760	1078	38	1		1	NUP210	3	13381471	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	512439	13381471	184640959	212	22648											
ANKRD28	23243	broad.mit.edu	37	chr3	15765943	15765943	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcattccactagaggcTgctgcatgaagaggtgtata	11	8	1	4			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:15765943T>G	uc003caj.1	-	7	782	c.639A>C	c.(637-639)GCA>GCC	p.A213A	ANKRD28_uc003cai.1_Silent_p.A59A|ANKRD28_uc011avz.1_Silent_p.A59A|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Silent_p.A243A|ANKRD28_uc003cam.2_Silent_p.A246A	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	213	ANK 6.					nucleoplasm	protein binding			breast(1)	1						CACTAGAGGCTGCTGCATGAA	0.373													G	15765943	T	G	15765943	2	3	25	1	0	0	0	0	0	0	0	1	656	1567	55	5		5	ANKRD28	3	15765943	Silent	SNP	T	TCGA-BR-4370-01A-01D-1158-08	2384472	15765943	182256487	213	22649											
KCNH8	131096	broad.mit.edu	37	chr3	19436644	19436644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcctcttgcgtcttttgCgtctgctgcagaagttagac	11	11	3	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:19436644C>T	uc003cbk.1	+	7	1213	c.1018C>T	c.(1018-1020)CGT>TGT	p.R340C	KCNH8_uc011awe.1_Missense_Mutation_p.R340C|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	340	Helical; Voltage-sensor; Name=Segment S4; (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						GCGTCTTTTGCGTCTGCTGCA	0.488													T	19436644	C	T	19436644	3	4	25	1	0	0	0	0	1	0	0	0	8038	768	27	1	1044	1	KCNH8	3	19436644	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3670701	19436644	178585786	214	22650											
ZNF385D	79750	broad.mit.edu	37	chr3	21552413	21552413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtgaaggtagtctttgCgctgtccttggcagttacag	15	7	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:21552413C>T	uc003cce.2	-	4	787	c.379G>A	c.(379-381)GCA>ACA	p.A127T	ZNF385D_uc010hfb.1_RNA	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	127						nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|skin(2)|ovary(1)	5						GTAGTCTTTGCGCTGTCCTTG	0.468													T	21552413	C	T	21552413	3	4	25	1	0	0	0	0	1	0	0	0	17875	768	27	1	828	1	ZNF385D	3	21552413	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2115769	21552413	176470017	215	22651											
GLB1	2720	broad.mit.edu	37	chr3	33038565	33038565	+	Frame_Shift_Del	DEL	T	T	-													ggtccagccatgaatctttgTttttttgcgggggtgggggc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:33038564_33038564GT>G	uc011axk.1	-	16	2268	c.2151_2151AC>C	c.(2149-2151)aacfs	p.N717fs	GLB1_uc003cfh.1_Frame_Shift_Del_p.N639fs|GLB1_uc003cfi.1_Frame_Shift_Del_p.N669fs|GLB1_uc003cfj.1_Frame_Shift_Del_p.N538fs	NM_001079811	NP_001073279	P16278	BGAL_HUMAN	Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 2, mRNA.	669					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				ATGAATCTTTGTTTTTTTGCG	0.478													-	33038565	T	-	33038565	7	5	25	1	0	1	0	1	0	0	0	0	6427	1725	60	0	31	0	GLB1	3	33038565	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	11486152	33038565	164983865	216	22652											
MLH1	4292	broad.mit.edu	37	chr3	37090086	37090086	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactgcctatcttcattcttCgactagccactgaggtcagt	8	12	4	1	rs63750131		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:37090086C>T	uc003cgl.2	+	17	2035	c.1975C>T	c.(1975-1977)CGA>TGA	p.R659*	MLH1_uc011aye.1_Nonsense_Mutation_p.R418*|MLH1_uc011ayb.1_Nonsense_Mutation_p.R418*|MLH1_uc010hge.2_Intron|MLH1_uc003cgn.3_Nonsense_Mutation_p.R418*|MLH1_uc011ayc.1_Nonsense_Mutation_p.R561*|MLH1_uc011ayd.1_Nonsense_Mutation_p.R418*|MLH1_uc003cgo.2_Nonsense_Mutation_p.R418*|MLH1_uc010hgk.2_Nonsense_Mutation_p.R246*|MLH1_uc010hgn.2_Intron|MLH1_uc010hgm.2_Intron|MLH1_uc010hgo.2_Intron|MLH1_uc010hgp.2_Intron|MLH1_uc010hgq.2_Intron	NM_000249	NP_000240	P40692	MLH1_HUMAN	MutL protein homolog 1	659			R -> Q.|R -> L (in HNPCC2).|R -> P (in HNPCC2; interacts only very weakly with PMS2; equivalent substitution in yeast causes almost complete loss of function in a mismatch repair assay; abrogates interaction with EXO1).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						CTTCATTCTTCGACTAGCCAC	0.478		1	D|Mis|N|F|S		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				T	37090086	C	T	37090086	4	4	25	1	0	0	0	0	0	1	0	0	9617	876	31	1	2041	1	MLH1	3	37090086	Nonsense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	4051521	37090086	160932344	217	22653											
ITGA9	3680	broad.mit.edu	37	chr3	37514892	37514892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agacctgccgggaagaccgcGatgatgagtggatgggggtg	19	7	0	4			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:37514892G>A	uc003chd.2	+	3	414	c.361G>A	c.(361-363)GAT>AAT	p.D121N	ITGA9_uc003chc.2_Missense_Mutation_p.D121N	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	121	Extracellular (Potential).|FG-GAP 2.				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GGAAGACCGCGATGATGAGTG	0.617													A	37514892	G	A	37514892	3	1	25	1	0	0	0	0	1	0	0	0	7883	1058	37	1	371	1	ITGA9	3	37514892	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	424806	37514892	160507538	218	22654											
ITGA9	3680	broad.mit.edu	37	chr3	37574910	37574910	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctgtgaactgcctgaaCgtcaccacctgcttcagctt	8	15	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:37574910C>T	uc003chd.2	+	14	1532	c.1479C>T	c.(1477-1479)AAC>AAT	p.N493N	ITGA9_uc003chc.2_Silent_p.N493N	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	493	Extracellular (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		ACTGCCTGAACGTCACCACCT	0.567													T	37574910	C	T	37574910	2	4	25	1	0	0	0	0	0	0	0	1	7883	535	19	1		1	ITGA9	3	37574910	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	60018	37574910	160447520	219	22655											
CTDSPL	10217	broad.mit.edu	37	chr3	37998618	37998618	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagggtgaccagaggcaggTcattcccataccaagtgtat	11	10	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:37998618T>C	uc003chg.2	+	3	273	c.251T>C	c.(250-252)GTC>GCC	p.V84A	CTDSPL_uc003chh.2_Intron|CTDSPL_uc003chi.2_Intron	NM_001008392	NP_001008393	O15194	CTDSL_HUMAN	small CTD phosphatase 3 isoform 1	84						nucleus	metal ion binding|phosphoprotein phosphatase activity				0		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		CAGAGGCAGGTCATTCCCATA	0.323													C	37998618	T	C	37998618	3	2	25	1	0	0	0	0	1	0	0	0	4005	1667	58	3	261	3	CTDSPL	3	37998618	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	423708	37998618	160023812	220	22656											
XIRP1	165904	broad.mit.edu	37	chr3	39227527	39227527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagatgccatcctgaattGtcacccaccccccaggcagc	8	16	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:39227527G>A	uc003cjk.1	-	2	3631	c.3410C>T	c.(3409-3411)ACA>ATA	p.T1137I	XIRP1_uc003cji.2_Intron|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1137							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ATCCTGAATTGTCACCCACCC	0.617													A	39227527	G	A	39227527	3	1	25	1	0	0	0	0	1	0	0	0	17426	1377	48	4	2125	4	XIRP1	3	39227527	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1228909	39227527	158794903	221	22657											
XCR1	2829	broad.mit.edu	37	chr3	46062693	46062693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatctgggtccgaaacagCgtctgcagaaacagggtgaa	13	8	2	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:46062693C>T	uc003cpe.2	-	3	971	c.747G>A	c.(745-747)ACG>ACA	p.T249T	uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Silent_p.T249T	NM_005283	NP_005274	P46094	XCR1_HUMAN	XC chemokine receptor 1	249	Helical; Name=6; (Potential).				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TCCGAAACAGCGTCTGCAGAA	0.597													T	46062693	C	T	46062693	2	4	25	1	0	0	0	0	0	0	0	1	17422	755	27	1		1	XCR1	3	46062693	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	6835166	46062693	151959737	222	22658											
SETD2	29072	broad.mit.edu	37	chr3	47162245	47162245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagtaatcacgtgtcccaCcatactgttctgcattttgc	7	13	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:47162245C>T	uc003cqs.2	-	3	3934	c.3881G>A	c.(3880-3882)GGT>GAT	p.G1294D	SETD2_uc003cqv.2_Missense_Mutation_p.G1283D	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACGTGTCCCACCATACTGTTC	0.473			N|F|S|Mis		clear cell renal carcinoma								T	47162245	C	T	47162245	3	4	25	1	0	0	0	0	1	0	0	0	14131	507	18	4	3889	4	SETD2	3	47162245	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1099552	47162245	150860185	223	22659											
SCAP	22937	broad.mit.edu	37	chr3	47459204	47459204	+	Frame_Shift_Del	DEL	G	G	-													gccccgggggcggtgtctcaGgggagggctgtccccaggct							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:47459204delG	uc003crh.1	-	17	2815	c.2560delC	c.(2560-2562)CTGfs	p.L854fs	SCAP_uc011baz.1_Frame_Shift_Del_p.L598fs|SCAP_uc003crg.2_Frame_Shift_Del_p.L461fs	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	854	Interaction with SREBF2 (By similarity).|Cytoplasmic (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CGGTGTCTCAGGGGAGGGCTG	0.657													-	47459204	G	-	47459204	7	5	25	1	0	1	0	1	0	0	0	0	13877	991	35	0	1307	0	SCAP	3	47459204	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	296959	47459204	150563226	224	22660											
NCKIPSD	51517	broad.mit.edu	37	chr3	48718986	48718988	+	In_Frame_Del	DEL	CTT	CTT	-													tgaggttgtaccagttgccaCttcttcttctgcagggggtt							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:48718985_48718987ACTT>A	uc003cun.3	-	4	919_921	c.825_827AAGT>T	c.(823-828)gaagtg>gaTg	p.275_276EV>D	NCKIPSD_uc003cum.3_In_Frame_Del_p.268_269EV>D|NCKIPSD_uc010hkh.2_In_Frame_Del_p.275_276EV>D	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.	275	Pro-rich.				NLS-bearing substrate import into nucleus|cytoskeleton organization|signal transduction	intermediate filament|nucleus	SH3 domain binding|cytoskeletal protein binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACCAGTTGCCACTTCTTCTTCTG	0.645													-	48718988	CTT	-	48718986	7	5	25	1	0	1	0	1	0	0	0	0	10225	565	20	0	1378	0	NCKIPSD	3	48718986	In_Frame_Del	DEL	CTT	TCGA-BR-4370-01A-01D-1158-08	1259782	48718986	149303444	225	22661											
WDR6	11180	broad.mit.edu	37	chr3	49049119	49049119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactttggtgggcatctgcGgatgataaagcgagtgcaga	16	6	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:49049119G>A	uc003cvj.2	+	2	380	c.242G>A	c.(241-243)CGG>CAG	p.R81Q	WDR6_uc011bbx.1_Intron|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.R25Q|WDR6_uc011bbz.1_5'UTR	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	51					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GGGCATCTGCGGATGATAAAG	0.537													A	49049119	G	A	49049119	3	1	25	1	0	0	0	0	1	0	0	0	17307	1116	39	1	248	1	WDR6	3	49049119	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	330133	49049119	148973311	226	22662											
DAG1	1605	broad.mit.edu	37	chr3	49568875	49568875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctcttcccaaacgcgtcCggaggcagatccatgctaca	8	17	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:49568875C>T	uc003cxc.3	+	3	1349	c.931C>T	c.(931-933)CGG>TGG	p.R311W		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	311	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CAAACGCGTCCGGAGGCAGAT	0.627													T	49568875	C	T	49568875	3	4	25	1	0	0	0	0	1	0	0	0	4225	643	23	1	937	1	DAG1	3	49568875	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	519756	49568875	148453555	227	22663											
ZMYND10	51364	broad.mit.edu	37	chr3	50379246	50379246	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccacaggccttaccttcgCgcctgcagccgcaggtcctg	10	17	0	0	rs143000634		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:50379246C>T	uc003dag.1	-	10	1262	c.1116G>A	c.(1114-1116)GCG>GCA	p.A372A	RASSF1_uc003dad.1_5'Flank|RASSF1_uc003dae.1_5'Flank|RASSF1_uc010hlk.1_5'Flank|RASSF1_uc003daf.1_5'Flank|RASSF1_uc011bdq.1_5'Flank|ZMYND10_uc010hll.1_Silent_p.A367A|ZMYND10_uc003dah.1_Silent_p.A293A	NM_015896	NP_056980	O75800	ZMY10_HUMAN	zinc finger, MYND domain-containing 10	372						cytoplasm	protein binding|zinc ion binding			lung(4)|ovary(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTTACCTTCGCGCCTGCAGCC	0.632										TSP Lung(30;0.18)			T	50379246	C	T	50379246	2	4	25	1	0	0	0	0	0	0	0	1	17702	755	27	1		1	ZMYND10	3	50379246	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	810371	50379246	147643184	228	22664											
DOCK3	1795	broad.mit.edu	37	chr3	51273835	51273835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgataatacagagaagtaCggcctgttggtttttcagtc	11	6	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:51273835C>T	uc011bds.1	+	20	2000	c.1977C>T	c.(1975-1977)TAC>TAT	p.Y659Y		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	659						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGAGAAGTACGGCCTGTTGG	0.368													T	51273835	C	T	51273835	2	4	25	1	0	0	0	0	0	0	0	1	4688	547	19	1		1	DOCK3	3	51273835	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	894589	51273835	146748595	229	22665											
RBM15B	29890	broad.mit.edu	37	chr3	51431126	51431126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgacccagctgaagatcGcccagcgccttcgactggac	11	15	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:51431126G>A	uc003dbd.2	+	1	2396	c.2296G>A	c.(2296-2298)GCC>ACC	p.A766T		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	766	Interaction with Epstein-Barr virus BMLF1.|SPOC.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCTGAAGATCGCCCAGCGCCT	0.607													A	51431126	G	A	51431126	3	1	25	1	0	0	0	0	1	0	0	0	13117	1087	38	1	2298	1	RBM15B	3	51431126	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	157291	51431126	146591304	230	22666											
GPR62	118442	broad.mit.edu	37	chr3	51990299	51990299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggcccccacggccggcgCgcgggtcccgactccactcg	14	19	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:51990299C>T	uc003dca.3	+	1	970	c.631C>T	c.(631-633)CGC>TGC	p.R211C		NM_080865	NP_543141	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	211	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACGGCCGGCGCGCGGGTCCCG	0.761													T	51990299	C	T	51990299	3	4	25	1	0	0	0	0	1	0	0	0	6703	768	27	1	633	1	GPR62	3	51990299	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	559173	51990299	146032131	231	22667											
CCDC66	285331	broad.mit.edu	37	chr3	56651196	56651196	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cacattgtggatcattaatgGagagggacatcacaaattgt	10	6	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:56651196G>T	uc003dhz.2	+	14	1987	c.1900G>T	c.(1900-1902)GAG>TAG	p.E634*	CCDC66_uc003dhy.2_Nonsense_Mutation_p.E270*|CCDC66_uc003dhu.2_Nonsense_Mutation_p.E600*|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dia.2_Nonsense_Mutation_p.E2*	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66 isoform 1	634										breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		ATCATTAATGGAGAGGGACAT	0.313													T	56651196	G	T	56651196	4	4	25	1	0	0	0	0	0	1	0	0	2838	1175	41	5	1954	5	CCDC66	3	56651196	Nonsense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	4660897	56651196	141371234	232	22668											
PTPRG	5793	broad.mit.edu	37	chr3	62189088	62189088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcccacgcgcctcccgaCggccgcctcagccagcaagc	12	20	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:62189088C>T	uc003dlb.2	+	12	2338	c.1619C>T	c.(1618-1620)ACG>ATG	p.T540M	PTPRG_uc003dlc.2_Missense_Mutation_p.T540M	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	540	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CGCCTCCCGACGGCCGCCTCA	0.682													T	62189088	C	T	62189088	3	4	25	1	0	0	0	0	1	0	0	0	12802	536	19	1	1665	1	PTPRG	3	62189088	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	5537892	62189088	135833342	233	22669											
ATXN7	6314	broad.mit.edu	37	chr3	63973914	63973914	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctagaacgtcacaggagccGcaccaaaaccctcacggagt	9	15	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:63973914G>A	uc003dlw.3	+	9	1828	c.1275G>A	c.(1273-1275)CCG>CCA	p.P425P	ATXN7_uc003dlv.2_Silent_p.P425P|ATXN7_uc010hnv.2_Silent_p.P425P|ATXN7_uc011bfn.1_Silent_p.P280P	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	425	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CACAGGAGCCGCACCAAAACC	0.552													A	63973914	G	A	63973914	2	1	25	1	0	0	0	0	0	0	0	1	1215	1074	38	1		1	ATXN7	3	63973914	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1784826	63973914	134048516	234	22670											
MAGI1	9223	broad.mit.edu	37	chr3	66024037	66024037	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagagacaggtgccccccaCagcacgagcccccaagcctc	10	19	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:66024037C>T	uc003dmn.2	-	1	473	c.-53G>A	c.(-55--51)CTGTG>CTATG		MAGI1_uc003dmm.2_Translation_Start_Site|MAGI1_uc003dmo.2_Translation_Start_Site|MAGI1_uc003dmp.2_Translation_Start_Site|MAGI1_uc003dmr.2_Translation_Start_Site	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ						cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GTGCCCCCCACAGCACGAGCC	0.522													T	66024037	C	T	66024037	1	4	25	1	0	0	0	0	0	0	0	0	9190	493	17	4		4	MAGI1	3	66024037	Translation_Start_Site	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2050123	66024037	131998393	235	22671											
C3orf64	285203	broad.mit.edu	37	chr3	69053564	69053564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttgcgctgaccttcagaCgtcaatgtacggatgtcaag	10	10	3	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:69053564C>T	uc003dnl.2	-	8	990	c.585G>A	c.(583-585)ACG>ACA	p.T195T	C3orf64_uc003dnj.2_5'Flank|C3orf64_uc003dnk.2_Silent_p.T195T|C3orf64_uc011bfw.1_RNA|C3orf64_uc003dnm.1_RNA	NM_173654	NP_775925	Q5NDL2	AER61_HUMAN	AER61 glycosyltransferase	195						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)	1		Lung NSC(201;0.126)		BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216)		GACCTTCAGACGTCAATGTAC	0.383													T	69053564	C	T	69053564	2	4	25	1	0	0	0	0	0	0	0	1	2240	523	19	1		1	C3orf64	3	69053564	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3029527	69053564	128968866	236	22672											
PDZRN3	23024	broad.mit.edu	37	chr3	73432925	73432925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcctcttggtgatgtagCgcgtcccgtcgctgcggatc	15	13	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:73432925C>T	uc003dpl.1	-	10	2888	c.2792G>A	c.(2791-2793)CGC>CAC	p.R931H	PDZRN3_uc011bgh.1_Missense_Mutation_p.R588H|PDZRN3_uc010hoe.1_Missense_Mutation_p.R629H|PDZRN3_uc011bgf.1_Missense_Mutation_p.R648H|PDZRN3_uc011bgg.1_Missense_Mutation_p.R651H	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	931							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGTGATGTAGCGCGTCCCGTC	0.677													T	73432925	C	T	73432925	3	4	25	1	0	0	0	0	1	0	0	0	11709	768	27	1	412	1	PDZRN3	3	73432925	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	4379361	73432925	124589505	237	22673											
ROBO1	6091	broad.mit.edu	37	chr3	78766491	78766491	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacagggtcacctcgggccTcacatttaaattctgcactg	9	12	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:78766491T>C	uc003dqe.2	-	7	1059	c.851A>G	c.(850-852)GAG>GGG	p.E284G	ROBO1_uc003dqb.2_Missense_Mutation_p.E245G|ROBO1_uc003dqc.2_Missense_Mutation_p.E245G|ROBO1_uc003dqd.2_Missense_Mutation_p.E245G|ROBO1_uc003dqf.1_5'Flank	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	284	Extracellular (Potential).|Ig-like C2-type 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ACCTCGGGCCTCACATTTAAA	0.423													C	78766491	T	C	78766491	3	2	25	1	0	0	0	0	1	0	0	0	13513	1551	54	3	4217	3	ROBO1	3	78766491	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	5333566	78766491	119255939	238	22674											
DCBLD2	131566	broad.mit.edu	37	chr3	98600451	98600451	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttaaagtgacaagaatcagaAtcttcaatgtcaaagtcacc	6	8	5	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:98600451A>T	uc003dtd.2	-	2	729	c.366T>A	c.(364-366)GAT>GAA	p.D122E	DCBLD2_uc003dte.2_Missense_Mutation_p.D122E|DCBLD2_uc003dtf.1_RNA	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	122	Extracellular (Potential).|CUB.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3						AAGAATCAGAATCTTCAATGT	0.368													T	98600451	A	T	98600451	3	4	25	1	0	0	0	0	1	0	0	0	4281	98	4	5	2021	5	DCBLD2	3	98600451	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	19833960	98600451	99421979	239	22675											
COL8A1	1295	broad.mit.edu	37	chr3	99514534	99514534	+	Frame_Shift_Del	DEL	C	C	-													tgggaattgatggcgtgaaaCccccccatgcctacggggct							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:99514533_99514533AC>A	uc003dti.1	+	2	1919	c.1791_1791AC>A	c.(1789-1791)aaafs	p.K597fs	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Frame_Shift_Del_p.K596fs|COL8A1_uc003dth.1_Frame_Shift_Del_p.K596fs	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	596	Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ATGGCGTGAAACCCCCCCATG	0.612													-	99514534	C	-	99514534	7	5	25	1	0	1	0	1	0	0	0	0	3705	507	18	0	1795	0	COL8A1	3	99514534	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	914083	99514534	98507896	240	22676											
MYH15	22989	broad.mit.edu	37	chr3	108172981	108172981	+	Frame_Shift_Del	DEL	A	A	-													tggcccagaaacccagctttAaaaaacacctaaaggaaaag							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:108172980_108172980TA>T	uc003dxa.1	-	21	2389	c.2332_2332TA>A	c.(2332-2334)aaafs	p.K778fs		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	778	Actin-binding (By similarity).|Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AACCCAGCTTTAAAAAACACC	0.408													-	108172981	A	-	108172981	7	5	25	1	0	1	0	1	0	0	0	0	10034	359	13	0	3593	0	MYH15	3	108172981	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	8658447	108172981	89849449	241	22677											
POLQ	10721	broad.mit.edu	37	chr3	121207935	121207935	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatttagaaaattctcatgCtggccttctgatttgctaaa	6	7	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:121207935C>T	uc003eee.3	-	16	3972	c.3843G>A	c.(3841-3843)CAG>CAA	p.Q1281Q	POLQ_uc003eed.2_Silent_p.Q453Q	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1281					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		AATTCTCATGCTGGCCTTCTG	0.348								DNA_polymerases_(catalytic_subunits)					T	121207935	C	T	121207935	2	4	25	1	0	0	0	0	0	0	0	1	12208	796	28	2		2	POLQ	3	121207935	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	13034954	121207935	76814495	242	22678											
CCDC14	64770	broad.mit.edu	37	chr3	123666111	123666111	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtagaacatcagtacaggttGcagaaactgttttaccttgt	9	7	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:123666111G>C	uc011bjx.1	-	8	975	c.884C>G	c.(883-885)GCA>GGA	p.A295G	CCDC14_uc003egv.3_Intron|CCDC14_uc003egx.3_Missense_Mutation_p.A95G|CCDC14_uc010hrt.2_Missense_Mutation_p.A254G|CCDC14_uc003egy.3_Missense_Mutation_p.A95G|CCDC14_uc003egz.2_Missense_Mutation_p.A95G	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	295						centrosome					0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		AGTACAGGTTGCAGAAACTGT	0.393													C	123666111	G	C	123666111	3	2	25	1	0	0	0	0	1	0	0	0	2773	1319	46	5	2001	5	CCDC14	3	123666111	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2458176	123666111	74356319	243	22679											
SNX4	8723	broad.mit.edu	37	chr3	125216990	125216990	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaattcactatatcgccgCcatagtgagtctgttaggac	8	10	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:125216990C>T	uc003eib.2	-	3	354	c.312G>A	c.(310-312)TGG>TGA	p.W104*	SNX4_uc011bkf.1_5'UTR	NM_003794	NP_003785	O95219	SNX4_HUMAN	sorting nexin 4	104	PX.				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4						TATATCGCCGCCATAGTGAGT	0.378													T	125216990	C	T	125216990	4	4	25	1	0	0	0	0	0	1	0	0	14904	740	26	2	1088	2	SNX4	3	125216990	Nonsense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1550879	125216990	72805440	244	22680											
KLF15	28999	broad.mit.edu	37	chr3	126071104	126071104	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcacgggctggatctgcAgcaacactgggatggggcca	16	11	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:126071104A>G	uc011bkk.1	-	2	844	c.662T>C	c.(661-663)CTG>CCG	p.L221P		NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	221						nucleus	DNA binding|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(114;0.147)		CTGGATCTGCAGCAACACTGG	0.672													G	126071104	A	G	126071104	3	3	25	1	0	0	0	0	1	0	0	0	8343	188	7	3	596	3	KLF15	3	126071104	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	854114	126071104	71951326	245	22681											
PLXNA1	5361	broad.mit.edu	37	chr3	126736387	126736387	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcttcgtcatggacaaCgtgcgctccctgcttgtgct	12	13	1	0	rs148780407		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:126736387C>T	uc003ejg.2	+	17	3331	c.3327C>T	c.(3325-3327)AAC>AAT	p.N1109N		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1132	Extracellular (Potential).|IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		TCATGGACAACGTGCGCTCCC	0.652													T	126736387	C	T	126736387	2	4	25	1	0	0	0	0	0	0	0	1	12119	535	19	1		1	PLXNA1	3	126736387	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	665283	126736387	71286043	246	22682											
DNAJB8	165721	broad.mit.edu	37	chr3	128181483	128181483	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctccacgcgctcctgcccGttctccacgatgcgcttggt	9	18	1	0	rs148414049		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:128181483G>A	uc003ekk.1	-	3	2267	c.606C>T	c.(604-606)AAC>AAT	p.N202N	uc003ekl.1_5'Flank	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	DnaJ homolog, subfamily B, member 8	202					protein folding		heat shock protein binding|unfolded protein binding				0				GBM - Glioblastoma multiforme(114;0.177)		GCTCCTGCCCGTTCTCCACGA	0.607													A	128181483	G	A	128181483	2	1	25	1	0	0	0	0	0	0	0	1	4626	1136	40	1		1	DNAJB8	3	128181483	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1445096	128181483	69840947	247	22683											
TOPBP1	11073	broad.mit.edu	37	chr3	133327401	133327401	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatgagataatcagcaatgTattctgttctcaagcagtac	8	8	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:133327401T>C	uc003eps.2	-	27	4535	c.4403A>G	c.(4402-4404)TAC>TGC	p.Y1468C		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1468	BRCT 8.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						ATCAGCAATGTATTCTGTTCT	0.388								Other_conserved_DNA_damage_response_genes					C	133327401	T	C	133327401	3	2	25	1	0	0	0	0	1	0	0	0	16366	1638	57	3	173	3	TOPBP1	3	133327401	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	5145918	133327401	64695029	248	22684											
NCK1	4690	broad.mit.edu	37	chr3	136665004	136665004	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctccacagtgtgattacaTtaggccttcactcactggaa	7	12	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:136665004T>C	uc003erh.2	+	3	913	c.806T>C	c.(805-807)ATT>ACT	p.I269T	NCK1_uc011bme.1_Missense_Mutation_p.I205T	NM_006153	NP_006144	P16333	NCK1_HUMAN	NCK adaptor protein 1	269					axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			pancreas(1)	1						TGTGATTACATTAGGCCTTCA	0.403													C	136665004	T	C	136665004	3	2	25	1	0	0	0	0	1	0	0	0	10219	1493	52	3	812	3	NCK1	3	136665004	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	3337603	136665004	61357426	249	22685											
RBP1	5947	broad.mit.edu	37	chr3	139257784	139257784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaagttggcgattttgcGcaaggccacattgacgtctg	12	10	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:139257784G>A	uc003eti.2	-	2	388	c.277C>T	c.(277-279)CGC>TGC	p.R93C	RBP1_uc011bmx.1_Missense_Mutation_p.R93C|RBP1_uc010huj.2_RNA|RBP1_uc011bmy.1_Missense_Mutation_p.R93C	NM_002899	NP_002890	P09455	RET1_HUMAN	retinol binding protein 1, cellular isoform a	31						cytoplasm	retinal binding|retinol binding|transporter activity				0					Vitamin A(DB00162)	GCGATTTTGCGCAAGGCCACA	0.552													A	139257784	G	A	139257784	3	1	25	1	0	0	0	0	1	0	0	0	13155	1087	38	1	396	1	RBP1	3	139257784	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2592780	139257784	58764646	250	22686											
ACPL2	92370	broad.mit.edu	37	chr3	141011879	141011879	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccggattctttacaatggCgtcgatgtcacattccacac	8	12	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:141011879C>T	uc003etu.2	+	8	1574	c.1275C>T	c.(1273-1275)GGC>GGT	p.G425G	ACPL2_uc003etv.2_Silent_p.G425G|ACPL2_uc011bna.1_Silent_p.G387G|ACPL2_uc011bnb.1_Silent_p.G408G	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2 precursor	425						extracellular region	acid phosphatase activity			skin(1)	1						TTTACAATGGCGTCGATGTCA	0.512													T	141011879	C	T	141011879	2	4	25	1	0	0	0	0	0	0	0	1	166	755	27	1		1	ACPL2	3	141011879	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1754095	141011879	57010551	251	22687											
RASA2	5922	broad.mit.edu	37	chr3	141295889	141295889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagcagctttgtatttcttCgtttctttgctgtagccgta	9	8	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:141295889C>T	uc003etz.1	+	15	1531	c.1531C>T	c.(1531-1533)CGT>TGT	p.R511C	RASA2_uc010huq.1_Missense_Mutation_p.R511C|RASA2_uc003eua.1_Missense_Mutation_p.R511C|RASA2_uc011bnc.1_Missense_Mutation_p.R103C	NM_006506	NP_006497	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	511	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			ovary(2)|lung(2)|breast(1)|skin(1)	6						TGTATTTCTTCGTTTCTTTGC	0.358													T	141295889	C	T	141295889	3	4	25	1	0	0	0	0	1	0	0	0	13061	884	31	1	1589	1	RASA2	3	141295889	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	284010	141295889	56726541	252	22688											
PLOD2	5352	broad.mit.edu	37	chr3	145828190	145828190	+	Frame_Shift_Del	DEL	T	T	-													ttgtggtttgccttttggaaTttttttagaacttcttctgg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:145828189_145828189AT>A	uc003evr.1	-	3	891	c.385_385AT>T	c.(385-387)ttcfs	p.F129fs	PLOD2_uc011bnm.1_Frame_Shift_Del_p.F74fs|PLOD2_uc003evs.1_Frame_Shift_Del_p.F129fs	NM_182943	NP_891988	O00469	PLOD2_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (PLOD2), transcript variant 1, mRNA.	129					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	GCCTTTTGGAATTTTTTTAGA	0.388													-	145828190	T	-	145828190	7	5	25	1	0	1	0	1	0	0	0	0	12102	1490	52	0	1960	0	PLOD2	3	145828190	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	4532301	145828190	52194240	253	22689											
GYG1	2992	broad.mit.edu	37	chr3	148727089	148727089	+	Frame_Shift_Del	DEL	T	T	-													accaaggcatactgaacacaTtttttagcagctgggcaaca							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:148727088_148727088AT>A	uc003ewn.3	+	4	740	c.507_507AT>A	c.(505-507)acafs	p.T169fs	GYG1_uc011bnp.2_Intron|GYG1_uc003ewo.3_Frame_Shift_Del_p.T169fs|GYG1_uc003ewp.3_Frame_Shift_Del_p.T169fs	NM_004130	NP_004121	P46976	GLYG_HUMAN	Homo sapiens glycogenin 1 (GYG1), transcript variant 1, mRNA.	169					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TACTGAACACATTTTTTAGCA	0.358													-	148727089	T	-	148727089	7	5	25	1	0	1	0	1	0	0	0	0	6905	1493	52	0	526	0	GYG1	3	148727089	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	2898899	148727089	49295341	254	22690											
GPR160	26996	broad.mit.edu	37	chr3	169802275	169802275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacagaatgcttattctcGtcactgtcctttctatgtca	7	11	4	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:169802275G>A	uc003fgi.2	+	4	1105	c.515G>A	c.(514-516)CGT>CAT	p.R172H	GPR160_uc010hwq.2_Missense_Mutation_p.R172H	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	172	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GCTTATTCTCGTCACTGTCCT	0.378													A	169802275	G	A	169802275	3	1	25	1	0	0	0	0	1	0	0	0	6664	1145	40	1	517	1	GPR160	3	169802275	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	21075186	169802275	28220155	255	22691											
CCDC39	339829	broad.mit.edu	37	chr3	180364954	180364954	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttcaacaatttttgcttcAagcgcttgtttttcttctga	6	8	4	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:180364954A>G	uc010hxe.2	-	11	1555	c.1440T>C	c.(1438-1440)CTT>CTC	p.L480L	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	480	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTTTGCTTCAAGCGCTTGTT	0.343													G	180364954	A	G	180364954	2	3	25	1	0	0	0	0	0	0	0	1	2811	117	5	3		3	CCDC39	3	180364954	Silent	SNP	A	TCGA-BR-4370-01A-01D-1158-08	10562679	180364954	17657476	256	22692											
FAM131A	131408	broad.mit.edu	37	chr3	184062384	184062384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctccgtggagcctgagagcGactgctcacagaccgtgtcc	13	14	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:184062384G>A	uc003fog.2	+	3	1998	c.634G>A	c.(634-636)GAC>AAC	p.D212N	FAM131A_uc003fob.1_Missense_Mutation_p.D120N|FAM131A_uc003foc.2_Missense_Mutation_p.D158N|FAM131A_uc003foe.2_Missense_Mutation_p.D158N	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	212						extracellular region				breast(1)	1	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCTGAGAGCGACTGCTCACA	0.697													A	184062384	G	A	184062384	3	1	25	1	0	0	0	0	1	0	0	0	5439	1058	37	1	749	1	FAM131A	3	184062384	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3697430	184062384	13960046	257	22693											
IGF2BP2	10644	broad.mit.edu	37	chr3	185363326	185363326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtgggagcctcacttgCtgcgctgtgaggcgactccc	14	14	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:185363326C>T	uc003fpo.2	-	16	1872	c.1793G>A	c.(1792-1794)AGC>AAC	p.S598N	IGF2BP2_uc010hyi.2_Missense_Mutation_p.S541N|IGF2BP2_uc010hyj.2_Missense_Mutation_p.S535N|IGF2BP2_uc010hyk.2_Missense_Mutation_p.S462N|IGF2BP2_uc010hyl.2_Missense_Mutation_p.S492N|IGF2BP2_uc003fpp.2_Missense_Mutation_p.S555N|IGF2BP2_uc003fpq.2_Missense_Mutation_p.S603N	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding	598					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity				0	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GCCTCACTTGCTGCGCTGTGA	0.552													T	185363326	C	T	185363326	3	4	25	1	0	0	0	0	1	0	0	0	7574	797	28	2	10	2	IGF2BP2	3	185363326	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1300942	185363326	12659104	258	22694											
AHSG	197	broad.mit.edu	37	chr3	186338454	186338455	+	Frame_Shift_Ins	INS	-	-	C													gacccagatgcacctccgtcINSccctccacttggcgcacctg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:186338453_186338454T>TC	uc003fqk.4	+	6	919_920	c.838_839T>TC	c.(838-840)tccfs	p.S280fs		NM_001622	NP_001613	P02765	FETUA_HUMAN	Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.	280					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TGCACCTCCGTCCCCTCCACTT	0.624													C	186338455	-	C	186338454	7	5	25	1	0	1	1	0	0	0	0	0	420	855	30	0	865	0	AHSG	3	186338454	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	975128	186338454	11683976	259	22695											
BCL6	604	broad.mit.edu	37	chr3	187447327	187447327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagggaagtagggggcatttCgggctgagggggcagcaggt	21	5	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:187447327C>T	uc003frp.3	-	5	1323	c.866G>A	c.(865-867)CGA>CAA	p.R289Q	BCL6_uc011bsf.1_Missense_Mutation_p.R289Q|BCL6_uc010hza.2_Missense_Mutation_p.R187Q|BCL6_uc003frq.1_Missense_Mutation_p.R289Q	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	289					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GGGGGCATTTCGGGCTGAGGG	0.542			T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL								T	187447327	C	T	187447327	3	4	25	1	0	0	0	0	1	0	0	0	1376	884	31	1	1278	1	BCL6	3	187447327	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1108873	187447327	10575103	260	22696											
CLDN1	9076	broad.mit.edu	37	chr3	190030818	190030818	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaaggcacgggttgcttgCaatgtgcctggcagaaaaca	12	9	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:190030818C>T	uc003fsh.2	-	2	451	c.231G>A	c.(229-231)TTG>TTA	p.L77L		NM_021101	NP_066924	O95832	CLD1_HUMAN	claudin 1	77	Extracellular (Potential).				calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(1)	1	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		GGGTTGCTTGCAATGTGCCTG	0.438													T	190030818	C	T	190030818	2	4	25	1	0	0	0	0	0	0	0	1	3471	709	25	2		2	CLDN1	3	190030818	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2583491	190030818	7991612	261	22697											
PCYT1A	5130	broad.mit.edu	37	chr3	195975116	195975116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattagggaaaaggttcttcGcttgcatcagagctcgggcg	13	8	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:195975116G>A	uc003fwg.2	-	5	469	c.296C>T	c.(295-297)GCG>GTG	p.A99V	PCYT1A_uc003fwh.2_Missense_Mutation_p.A99V	NM_005017	NP_005008	P49585	PCY1A_HUMAN	choline phosphate cytidylyltransferase 1 alpha	99	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity				0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	AAGGTTCTTCGCTTGCATCAG	0.428													A	195975116	G	A	195975116	3	1	25	1	0	0	0	0	1	0	0	0	11610	1087	38	1	831	1	PCYT1A	3	195975116	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	5944298	195975116	2047314	262	22698											
UBXN7	26043	broad.mit.edu	37	chr3	196096324	196096324	+	Frame_Shift_Del	DEL	A	A	-													ccaatatggaaacataggggAaatcccctaacttataaaac							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:196096323_196096323GA>G	uc003fwm.4	-	6	750	c.675_675TC>C	c.(673-675)ttcfs	p.F225fs	UBXN7_uc003fwn.4_Frame_Shift_Del_p.F77fs|UBXN7_uc010iae.3_Frame_Shift_Del_p.F63fs	NM_015562	NP_056377	O94888	UBXN7_HUMAN	Homo sapiens UBX domain protein 7 (UBXN7), mRNA.	225							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AAACATAGGGGAAATCCCCTA	0.353													-	196096324	A	-	196096324	7	5	25	1	0	1	0	1	0	0	0	0	16915	246	9	0	815	0	UBXN7	3	196096324	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	121208	196096324	1926106	263	22699											
PIGZ	80235	broad.mit.edu	37	chr3	196674301	196674302	+	Frame_Shift_Ins	INS	-	-	C													acagggcccagtcctcagtcINSccccccatgtccaccacctc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:196674300_196674301T>TC	uc003fxh.3	-	2	1614_1615	c.1467_1468A>GA	c.(1465-1470)gggactfs	p.G489fs		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA.	489					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		CAGTCCTCAGTCCCCCCCATGT	0.629													C	196674302	-	C	196674301	7	5	25	1	0	1	1	0	0	0	0	0	11905	842	30	0	276	0	PIGZ	3	196674301	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	577977	196674301	1348129	264	22700											
MFI2	4241	broad.mit.edu	37	chr3	196736547	196736547	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgaataagggcacccacGgggacatcccagcctgcagg	12	14	1	1	rs146339339	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:196736547G>A	uc003fxk.3	-	11	1580	c.1467C>T	c.(1465-1467)CCC>CCT	p.P489P		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	489	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GGGCACCCACGGGGACATCCC	0.627													A	196736547	G	A	196736547	2	1	25	1	0	0	0	0	0	0	0	1	9522	1103	39	1		1	MFI2	3	196736547	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	62246	196736547	1285883	265	22701											
SLC26A1	10861	broad.mit.edu	37	chr4	983202	983202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggccagcagggcggtgcGtgggcgttgggtgcggccgg	24	10	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:983202G>A	uc003gcb.2	-	4	1903	c.1525C>T	c.(1525-1527)CGC>TGC	p.R509C	SLC26A1_uc003gbx.2_Intron|IDUA_uc003gby.2_Intron|IDUA_uc003gbz.2_Intron|IDUA_uc003gca.2_Intron|SLC26A1_uc003gcc.2_Missense_Mutation_p.R509C	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	solute carrier family 26, member 1 isoform a	509						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGGGCGGTGCGTGGGCGTTGG	0.706													A	983202	G	A	983202	3	1	25	1	0	0	0	0	1	0	0	0	14514	1145	40	1	687	1	SLC26A1	4	983202	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08		983202	190171074	266	22702											
TACC3	10460	broad.mit.edu	37	chr4	1730308	1730309	+	Frame_Shift_Ins	INS	-	-	C													ggagcggagcaggagaggacINSccccccatgccagcttctcg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:1730307_1730308A>AC	uc003gdo.3	+	3	1333_1334	c.1178_1179A>AC	c.(1177-1179)gacfs	p.D393fs	TACC3_uc010ibz.3_Frame_Shift_Ins_p.D393fs|TACC3_uc003gdp.3_Intron	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	393						centrosome		p.M396fs*17(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GCAGGAGAGGACCCCCCCATGC	0.609													C	1730309	-	C	1730308	7	5	25	1	0	1	1	0	0	0	0	0	15500	506	18	0	1189	0	TACC3	4	1730308	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	747106	1730308	189423968	267	22703											
FAM193A	8603	broad.mit.edu	37	chr4	2641566	2641566	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttcagagcaacttgccCgcactggtgtcacagatcag	9	13	4	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:2641566C>T	uc010icl.2	+	4	621	c.270C>T	c.(268-270)CCC>CCT	p.P90P	FAM193A_uc010ick.2_Silent_p.P290P|FAM193A_uc003gfd.2_Silent_p.P90P|FAM193A_uc011bvm.1_Silent_p.P90P|FAM193A_uc011bvn.1_Silent_p.P90P|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	90										ovary(3)	3						GCAACTTGCCCGCACTGGTGT	0.463													T	2641566	C	T	2641566	2	4	25	1	0	0	0	0	0	0	0	1	5524	639	23	1		1	FAM193A	4	2641566	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	911258	2641566	188512710	268	22704											
NOP14	8602	broad.mit.edu	37	chr4	2958520	2958520	+	Frame_Shift_Del	DEL	T	T	-													ttcatttagattgtagatgcTttttttctcatgatgtcgct							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:2958519_2958519CT>C	uc003ggj.1	-	2	422	c.350_350AG>G	c.(349-351)agcfs	p.S117fs	NOP14-AS1_uc003ggi.1_Intron|NOP14_uc003ggl.3_Frame_Shift_Del_p.S117fs|NOP14_uc010icq.1_Non-coding_Transcript	NM_003703	NP_003694	P78316	NOP14_HUMAN	Homo sapiens NOP14 nucleolar protein homolog (yeast) (NOP14), mRNA.	117					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)	Noc4p-Nop14p complex|mitochondrion|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						ATTGTAGATGCTTTTTTTCTC	0.348													-	2958520	T	-	2958520	7	5	25	1	0	1	0	1	0	0	0	0	10536	1609	56	0	2288	0	NOP14	4	2958520	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	316954	2958520	188195756	269	22705											
HTT	3064	broad.mit.edu	37	chr4	3158843	3158843	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgttacaacaagtaaaTcctcatcactggggagtttc	8	10	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:3158843T>A	uc011bvq.1	+	29	3821	c.3676T>A	c.(3676-3678)TCC>ACC	p.S1226T		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1224					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AACAAGTAAATCCTCATCACT	0.388													A	3158843	T	A	3158843	3	1	25	1	0	0	0	0	1	0	0	0	7457	1435	50	5	3780	5	HTT	4	3158843	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	200323	3158843	187995433	270	22706											
HTT	3064	broad.mit.edu	37	chr4	3215861	3215861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacttcatcctggaggcCggtgagtccccgtccatgaa	12	13	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:3215861C>T	uc011bvq.1	+	51	7102	c.6957C>T	c.(6955-6957)GCC>GCT	p.A2319A		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2317					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCCTGGAGGCCGGTGAGTCCC	0.453													T	3215861	C	T	3215861	2	4	25	1	0	0	0	0	0	0	0	1	7457	666	23	1		1	HTT	4	3215861	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	57018	3215861	187938415	271	22707											
ZBTB49	166793	broad.mit.edu	37	chr4	4304082	4304082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaaaacgttggatgaatcGcatccgcatgcttcaccatc	7	12	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:4304082G>A	uc003ghu.2	+	3	694	c.519G>A	c.(517-519)TCG>TCA	p.S173S	ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_5'UTR	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	zinc finger protein 509	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						TGGATGAATCGCATCCGCATG	0.473													A	4304082	G	A	4304082	2	1	25	1	0	0	0	0	0	0	0	1	17547	1074	38	1		1	ZBTB49	4	4304082	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1088221	4304082	186850194	272	22708											
PPP2R2C	5522	broad.mit.edu	37	chr4	6349592	6349592	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcttggaatgcttgtcacaCagggcagctgcccgcatgtc	12	13	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:6349592C>T	uc003gjc.2	-	6	1141	c.771G>A	c.(769-771)CTG>CTA	p.L257L	PPP2R2C_uc003gjb.2_Silent_p.L240L|PPP2R2C_uc011bwd.1_Silent_p.L250L|PPP2R2C_uc011bwe.1_Silent_p.L250L|PPP2R2C_uc003gja.2_Silent_p.L257L|PPP2R2C_uc003gjd.1_Silent_p.L345L	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	257	WD 4.				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						GCTTGTCACACAGGGCAGCTG	0.637													T	6349592	C	T	6349592	2	4	25	1	0	0	0	0	0	0	0	1	12386	465	17	4		4	PPP2R2C	4	6349592	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2045510	6349592	184804684	273	22709											
MAN2B2	23324	broad.mit.edu	37	chr4	6588807	6588807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttggcgcctctgccacgaCgcccaccctatttgcgctgg	11	16	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:6588807C>T	uc003gjf.1	+	4	512	c.476C>T	c.(475-477)ACG>ATG	p.T159M	MAN2B2_uc003gje.1_Missense_Mutation_p.T159M|MAN2B2_uc011bwf.1_Missense_Mutation_p.T159M	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	159					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						TCTGCCACGACGCCCACCCTA	0.607													T	6588807	C	T	6588807	3	4	25	1	0	0	0	0	1	0	0	0	9217	536	19	1	490	1	MAN2B2	4	6588807	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	239215	6588807	184565469	274	22710											
ABLIM2	84448	broad.mit.edu	37	chr4	7985012	7985012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagtctcgtccggtccacGtctttgggcagtttcacgcg	11	14	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:7985012G>A	uc003gko.2	-	19	1844	c.1701C>T	c.(1699-1701)GAC>GAT	p.D567D	ABLIM2_uc003gkk.2_Silent_p.D192D|ABLIM2_uc003gkl.2_Silent_p.D295D|ABLIM2_uc003gkj.3_Silent_p.D601D|ABLIM2_uc003gkm.3_Silent_p.D515D|ABLIM2_uc003gkp.2_Silent_p.D487D|ABLIM2_uc003gkq.2_Silent_p.D528D|ABLIM2_uc003gkr.2_Silent_p.D477D|ABLIM2_uc003gki.2_RNA	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	567	HP.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3						TCCGGTCCACGTCTTTGGGCA	0.592													A	7985012	G	A	7985012	2	1	25	1	0	0	0	0	0	0	0	1	95	1136	40	1		1	ABLIM2	4	7985012	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1396205	7985012	183169264	275	22711											
SH3TC1	54436	broad.mit.edu	37	chr4	8216302	8216302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagttttccacctaccatgCtctcggtaaagaggtgaccc	9	12	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:8216302C>T	uc003gkv.3	+	5	577	c.476C>T	c.(475-477)GCT>GTT	p.A159V	SH3TC1_uc003gkw.3_Missense_Mutation_p.A83V|SH3TC1_uc003gkx.3_RNA	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	159							binding			large_intestine(2)|pancreas(1)	3						ACCTACCATGCTCTCGGTAAA	0.502													T	8216302	C	T	8216302	3	4	25	1	0	0	0	0	1	0	0	0	14261	797	28	2	490	2	SH3TC1	4	8216302	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	231290	8216302	182937974	276	22712											
HTRA3	94031	broad.mit.edu	37	chr4	8307814	8307814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctactggaggtgcggcGggggaacgacgacctcctct	14	13	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:8307814G>A	uc003gla.2	+	9	1517	c.1313G>A	c.(1312-1314)CGG>CAG	p.R438Q		NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	438	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1						GAGGTGCGGCGGGGGAACGAC	0.632													A	8307814	G	A	8307814	3	1	25	1	0	0	0	0	1	0	0	0	7455	1116	39	1	1347	1	HTRA3	4	8307814	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	91512	8307814	182846462	277	22713											
ZNF518B	85460	broad.mit.edu	37	chr4	10445916	10445916	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatttgaagccaaagatgaCggcttcccacaggactcaat	8	11	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:10445916C>T	uc003gmn.2	-	3	2524	c.2037G>A	c.(2035-2037)CCG>CCA	p.P679P		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4						CCAAAGATGACGGCTTCCCAC	0.443													T	10445916	C	T	10445916	2	4	25	1	0	0	0	0	0	0	0	1	17960	523	19	1		1	ZNF518B	4	10445916	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2138102	10445916	180708360	278	22714											
BOD1L	259282	broad.mit.edu	37	chr4	13601751	13601751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtcttccaccgagctcGtagagatgatgccactcccg	9	15	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:13601751G>A	uc003gmz.1	-	10	6890	c.6773C>T	c.(6772-6774)ACG>ATG	p.T2258M	BOD1L_uc010idr.1_Missense_Mutation_p.T1595M	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2258							DNA binding			ovary(5)|breast(1)	6						CACCGAGCTCGTAGAGATGAT	0.547													A	13601751	G	A	13601751	3	1	25	1	0	0	0	0	1	0	0	0	1483	1145	40	1	2450	1	BOD1L	4	13601751	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3155835	13601751	177552525	279	22715											
PROM1	8842	broad.mit.edu	37	chr4	15995680	15995681	+	Frame_Shift_Ins	INS	-	-	T													agtgccgtaagtgcctctatINStttttttgcagtcactgtgg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:15995679_15995680A>AT	uc003goo.2	-	14	1909_1910	c.1697_1698T>AT	c.(1696-1698)aatfs	p.N566fs	PROM1_uc003gor.2_Frame_Shift_Ins_p.N566fs|PROM1_uc003gos.2_Frame_Shift_Ins_p.N557fs|PROM1_uc003got.2_Frame_Shift_Ins_p.N566fs|PROM1_uc003gou.2_Frame_Shift_Ins_p.N557fs|PROM1_uc003gop.2_Frame_Shift_Ins_p.N557fs|PROM1_uc003goq.3_Frame_Shift_Ins_p.N557fs	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	566					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	p.N565N(4)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AAGTGCCTCTATTTTTTTTGCA	0.426													T	15995681	-	T	15995680	7	5	25	1	0	1	1	0	0	0	0	0	12555	1493	52	0	948	0	PROM1	4	15995680	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	2393929	15995680	175158596	280	22716											
SEL1L3	23231	broad.mit.edu	37	chr4	25760663	25760663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggattatcgtaccttcctCgattagcagggccaggttaa	11	9	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:25760663C>T	uc003gru.3	-	21	3135	c.2983G>A	c.(2983-2985)GAG>AAG	p.E995K	SEL1L3_uc003grt.2_Missense_Mutation_p.E43K|SEL1L3_uc003grv.2_Missense_Mutation_p.E402K	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	995						integral to membrane	binding				0						GTACCTTCCTCGATTAGCAGG	0.393													T	25760663	C	T	25760663	3	4	25	1	0	0	0	0	1	0	0	0	14012	893	31	1	431	1	SEL1L3	4	25760663	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	9764983	25760663	165393613	281	22717											
STIM2	57620	broad.mit.edu	37	chr4	27024297	27024297	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattcctcccgaggggattcGcctgtaactgtggatgtgtc	13	10	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:27024297G>A	uc003gsh.3	+	13	2421	c.2205G>A	c.(2203-2205)TCG>TCA	p.S735S	STIM2_uc003gsg.3_Silent_p.S727S|STIM2_uc010iex.2_3'UTR|STIM2_uc010iey.2_3'UTR	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	640	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			central_nervous_system(1)|skin(1)	2		Breast(46;0.0503)				GAGGGGATTCGCCTGTAACTG	0.473													A	27024297	G	A	27024297	2	1	25	1	0	0	0	0	0	0	0	1	15283	1074	38	1		1	STIM2	4	27024297	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1263634	27024297	164129979	282	22718											
RELL1	768211	broad.mit.edu	37	chr4	37636637	37636637	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatccctctcgacaacaccGcccaccgtatgcagatgatg	7	16	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:37636637G>A	uc003gsz.2	-	5	642	c.552C>T	c.(550-552)GGC>GGT	p.G184G	RELL1_uc010ifc.2_Silent_p.G184G	NM_001085399	NP_001078868	Q8IUW5	RELL1_HUMAN	receptor expressed in lymphoid tissues like 1	184	Cytoplasmic (Potential).					cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane					0						CGACAACACCGCCCACCGTAT	0.612													A	37636637	G	A	37636637	2	1	25	1	0	0	0	0	0	0	0	1	13218	1074	38	1		1	RELL1	4	37636637	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	10612340	37636637	153517639	283	22719											
UGDH	7358	broad.mit.edu	37	chr4	39515753	39515753	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcatcaatattggtagAaaaaaaaagattttttcctc	6	6	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:39515753A>G	uc003guk.1	-	3	530	c.214T>C	c.(214-216)TCT>CCT	p.S72P	UGDH_uc011byp.1_5'UTR|UGDH_uc003gul.1_Missense_Mutation_p.S72P	NM_003359	NP_003350	O60701	UGDH_HUMAN	UDP-glucose dehydrogenase	72					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4					NADH(DB00157)	ATATTGGTAGAAAAAAAAAGA	0.299													G	39515753	A	G	39515753	3	3	25	1	0	0	0	0	1	0	0	0	16937	246	9	3	1310	3	UGDH	4	39515753	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	1879116	39515753	151638523	284	22720											
APBB2	323	broad.mit.edu	37	chr4	41015658	41015660	+	In_Frame_Del	DEL	CTC	CTC	-													gacaacgttgtccagctggaCtcctcatcgctcggtgccag							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:41015657_41015659ACTC>A	uc003gvn.3	-	5	1406_1408	c.776_778GAGT>T	c.(775-780)gagtcc>gTcc	p.259_260ES>V	APBB2_uc003gvl.3_In_Frame_Del_p.259_260ES>V|APBB2_uc003gvm.3_In_Frame_Del_p.259_260ES>V|APBB2_uc011byt.1_In_Frame_Del_p.242_243ES>V	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	259					cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GTCCAGCTGGACTCCTCATCGCT	0.567													-	41015660	CTC	-	41015658	7	5	25	1	0	1	0	1	0	0	0	0	761	564	20	0	1554	0	APBB2	4	41015658	In_Frame_Del	DEL	CTC	TCGA-BR-4370-01A-01D-1158-08	1499905	41015658	150138618	285	22721											
FRYL	285527	broad.mit.edu	37	chr4	48578234	48578234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactttcttagcattgatgGggctactaaggaaaaaaaaa	8	5	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:48578234G>A	uc003gyh.1	-	24	3139	c.2534C>T	c.(2533-2535)CCC>CTC	p.P845L	FRYL_uc003gyk.2_Missense_Mutation_p.P845L	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	845					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						AGCATTGATGGGGCTACTAAG	0.328													A	48578234	G	A	48578234	3	1	25	1	0	0	0	0	1	0	0	0	6064	1232	43	4	6671	4	FRYL	4	48578234	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	7562576	48578234	142576042	286	22722											
FRYL	285527	broad.mit.edu	37	chr4	48622707	48622707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcataagattcatcttccGttccattttggcgtctgtac	6	10	4	1	rs147277630	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:48622707G>A	uc003gyh.1	-	6	868	c.263C>T	c.(262-264)ACG>ATG	p.T88M	FRYL_uc003gyk.2_Missense_Mutation_p.T88M|FRYL_uc003gyl.1_Missense_Mutation_p.T139M|FRYL_uc003gym.1_Missense_Mutation_p.T88M	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						TTCATCTTCCGTTCCATTTTG	0.423													A	48622707	G	A	48622707	3	1	25	1	0	0	0	0	1	0	0	0	6064	1145	40	1	9014	1	FRYL	4	48622707	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	44473	48622707	142531569	287	22723											
PDGFRA	5156	broad.mit.edu	37	chr4	54249979	54249979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgatagtgatagtgacagcGatgatgatgaagatgatgtt	13	2	0	8			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:54249979G>A	uc003haa.2	+	5	454	c.268G>A	c.(268-270)GAT>AAT	p.D90N	FIP1L1_uc003gzx.3_Missense_Mutation_p.D75N|FIP1L1_uc011bzt.1_Missense_Mutation_p.D90N|FIP1L1_uc003gzy.2_Missense_Mutation_p.D90N|FIP1L1_uc011bzu.1_Missense_Mutation_p.D75N|FIP1L1_uc003gzz.2_Missense_Mutation_p.D75N|FIP1L1_uc003hab.2_Missense_Mutation_p.D78N|FIP1L1_uc003hac.2_Intron	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	tagtgacagcgatgatgatga	0.229			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			A	54249979	G	A	54249979	3	1	25	1	0	0	0	0	1	0	0	0	11661	1058	37	1		1	PDGFRA	4	54249979	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	5627272	54249979	136904297	288	22724											
FIP1L1	81608	broad.mit.edu	37	chr4	54325608	54325608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcaccgaagctacacctGcagaataggcatggttttgg	12	9	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:54325608G>A	uc003gzy.2	+	18	1963	c.1777G>A	c.(1777-1779)GCA>ACA	p.A593T	PDGFRA_uc003haa.2_Intron|FIP1L1_uc011bzu.1_Missense_Mutation_p.A587T|FIP1L1_uc003gzz.2_Missense_Mutation_p.A519T|FIP1L1_uc003hab.2_Missense_Mutation_p.A558T|FIP1L1_uc003hac.2_Missense_Mutation_p.A347T|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_Silent_p.L177L|FIP1L1_uc003hae.2_Silent_p.L180L	NM_030917	NP_112179	Q6UN15	FIP1_HUMAN	FIP1 like 1 isoform 1	593	Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing	nucleus	RNA binding			ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGCTACACCTGCAGAATAGGC	0.388			T	PDGFRA	idiopathic hypereosinophilic syndrome								A	54325608	G	A	54325608	3	1	25	1	0	0	0	0	1	0	0	0	5896	1319	46	2	1878	2	FIP1L1	4	54325608	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	75629	54325608	136828668	289	22725											
LPHN3	23284	broad.mit.edu	37	chr4	62599176	62599176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataccagtacattgcagctGtggattacaaccccagggac	9	12	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:62599176G>A	uc010ihh.2	+	5	1272	c.1099G>A	c.(1099-1101)GTG>ATG	p.V367M	LPHN3_uc003hcq.3_Missense_Mutation_p.V367M|LPHN3_uc010ihg.1_Missense_Mutation_p.V435M|LPHN3_uc003hcs.1_Missense_Mutation_p.V196M	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	367	Extracellular (Potential).|Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						CATTGCAGCTGTGGATTACAA	0.398													A	62599176	G	A	62599176	3	1	25	1	0	0	0	0	1	0	0	0	8917	1377	48	4	1117	4	LPHN3	4	62599176	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	8273568	62599176	128555100	290	22726											
UGT2B10	7365	broad.mit.edu	37	chr4	69885835	69885838	+	Frame_Shift_Del	DEL	TTAG	TTAG	-													tgatattctccaactcagttTtagttaaagatgtaggataa							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:69885834_69885837TTTAG>T	uc011cao.1	-	1	258_261	c.132_135CTAAA>A	c.(130-135)actaaafs	p.T44fs	UGT2B10_uc011can.1_Frame_Shift_Del_p.T44fs			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	81					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CCAACTCAGTTTTAGTTAAAGATG	0.348													-	69885838	TTAG	-	69885835	7	5	25	1	0	1	0	1	0	0	0	0	16953	1841	64	0	2956	0	UGT2B10	4	69885835	Frame_Shift_Del	DEL	TTAG	TCGA-BR-4370-01A-01D-1158-08	7286659	69885835	121268441	291	22727											
ENAM	10117	broad.mit.edu	37	chr4	71503555	71503556	+	Frame_Shift_Ins	INS	-	-	G													accaatcagcaatgaagaagINSggggggtaagtacaagtaaa							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:71503554_71503555A>AG	uc011caw.1	+	7	863_864	c.582_583A>AG	c.(580-585)gaagggfs	p.E194fs		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	194					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GCAATGAAGAAGGGGGGGTAAG	0.431													G	71503556	-	G	71503555	7	5	25	1	0	1	1	0	0	0	0	0	5112	1000	35	0	609	0	ENAM	4	71503555	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	1617720	71503555	119650721	292	22728											
NPFFR2	10886	broad.mit.edu	37	chr4	73012837	73012837	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagaagaaaaatattacCgagtgagactcaactcccag	8	9	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:73012837C>A	uc003hgg.2	+	4	975	c.877C>A	c.(877-879)CGA>AGA	p.R293R	NPFFR2_uc010iig.1_Silent_p.R75R|NPFFR2_uc003hgi.2_Silent_p.R194R|NPFFR2_uc003hgh.2_Silent_p.R191R|NPFFR2_uc003hgj.2_RNA	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	293	Extracellular (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AAAATATTACCGAGTGAGACT	0.438													A	73012837	C	A	73012837	2	1	25	1	0	0	0	0	0	0	0	1	10578	644	23	5		5	NPFFR2	4	73012837	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1509282	73012837	118141439	293	22729											
AFM	173	broad.mit.edu	37	chr4	74351751	74351751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggatcccgaagagaaatGccaggcttatgaaagtaaca	10	9	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:74351751G>A	uc003hhb.2	+	4	474	c.443G>A	c.(442-444)TGC>TAC	p.C148Y		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor	148	Albumin 1.				vitamin transport		vitamin E binding			ovary(2)|central_nervous_system(1)	3	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAAGAGAAATGCCAGGCTTAT	0.368													A	74351751	G	A	74351751	3	1	25	1	0	0	0	0	1	0	0	0	361	1319	46	2	457	2	AFM	4	74351751	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1338914	74351751	116802525	294	22730											
PRDM8	56978	broad.mit.edu	37	chr4	81123474	81123474	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccagagcctcagcagcggTagcggcagcggcggcggcgg	19	14	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:81123474T>C	uc010ijo.2	+	8	1697	c.858T>C	c.(856-858)GGT>GGC	p.G286G	PRDM8_uc003hmb.3_Silent_p.G286G|PRDM8_uc003hmc.3_Silent_p.G286G	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	286	Gly-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TCAgcagcggtagcggcagcg	0.557											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	81123474	T	C	81123474	2	2	25	1	0	0	0	0	0	0	0	1	12462	1625	57	3		3	PRDM8	4	81123474	Silent	SNP	T	TCGA-BR-4370-01A-01D-1158-08	6771723	81123474	110030802	295	22731											
HELQ	113510	broad.mit.edu	37	chr4	84370022	84370022	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagcattaaaatctcagCcacgagggtttttccaccac	7	12	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:84370022C>A	uc003hom.2	-	3	1284	c.1105G>T	c.(1105-1107)GCT>TCT	p.A369S	HELQ_uc010ikb.2_Missense_Mutation_p.A369S|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA|HELQ_uc003hon.1_Missense_Mutation_p.A263S	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	369	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)|skin(1)	3						AAAATCTCAGCCACGAGGGTT	0.373								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	84370022	C	A	84370022	3	1	25	1	0	0	0	0	1	0	0	0	7047	739	26	5	2264	5	HELQ	4	84370022	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3246548	84370022	106784254	296	22732											
WDFY3	23001	broad.mit.edu	37	chr4	85638104	85638104	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatcttcatatgcaaaaatgCtgcatgttctcttgagttga	7	7	3	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:85638104C>A	uc003hpd.2	-	49	8228	c.7820G>T	c.(7819-7821)AGC>ATC	p.S2607I	WDFY3_uc003hpe.1_Missense_Mutation_p.S218I	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2607						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGCAAAAATGCTGCATGTTCT	0.383													A	85638104	C	A	85638104	3	1	25	1	0	0	0	0	1	0	0	0	17267	797	28	5	2840	5	WDFY3	4	85638104	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1268082	85638104	105516172	297	22733											
WDFY3	23001	broad.mit.edu	37	chr4	85738729	85738729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcttgcacctccaaattctCgaaaaattccttgaaggaag	6	10	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:85738729C>T	uc003hpd.2	-	13	2111	c.1703G>A	c.(1702-1704)CGA>CAA	p.R568Q	WDFY3_uc003hpf.2_Missense_Mutation_p.R568Q	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	568						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCCAAATTCTCGAAAAATTCC	0.388													T	85738729	C	T	85738729	3	4	25	1	0	0	0	0	1	0	0	0	17267	884	31	1	9144	1	WDFY3	4	85738729	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	100625	85738729	105415547	298	22734											
ARHGAP24	83478	broad.mit.edu	37	chr4	86916593	86916593	+	Frame_Shift_Del	DEL	C	C	-													aggaccctgttttggatgggCccccgcaggacgacctttcc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:86916592_86916592GC>G	uc003hpk.3	+	8	2234	c.1785_1785GC>G	c.(1783-1785)gggfs	p.G595fs	ARHGAP24_uc003hpl.3_Frame_Shift_Del_p.G500fs|ARHGAP24_uc010ikf.3_Frame_Shift_Del_p.G510fs|ARHGAP24_uc003hpm.3_Frame_Shift_Del_p.G502fs	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	595					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TTTTGGATGGGCCCCCGCAGG	0.562													-	86916593	C	-	86916593	7	5	25	1	0	1	0	1	0	0	0	0	873	739	26	0	1932	0	ARHGAP24	4	86916593	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	1177864	86916593	104237683	299	22735											
PDHA2	5161	broad.mit.edu	37	chr4	96761910	96761910	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaatcaggggcagatagcCgaagctttcaatatggcagc	13	9	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:96761910C>T	uc003htr.3	+	1	672	c.609C>T	c.(607-609)GCC>GCT	p.A203A		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	203					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GGCAGATAGCCGAAGCTTTCA	0.458													T	96761910	C	T	96761910	2	4	25	1	0	0	0	0	0	0	0	1	11665	639	23	1		1	PDHA2	4	96761910	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	9845317	96761910	94392366	300	22736											
PAPSS1	9061	broad.mit.edu	37	chr4	108565999	108565999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgggagatgggaagatggCcaccactgtcgtctcaggat	14	9	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:108565999C>T	uc003hyk.2	-	10	1549	c.1465G>A	c.(1465-1467)GCC>ACC	p.A489T		NM_005443	NP_005434	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase	489	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		GGGAAGATGGCCACCACTGTC	0.488													T	108565999	C	T	108565999	3	4	25	1	0	0	0	0	1	0	0	0	11434	739	26	2	421	2	PAPSS1	4	108565999	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	11804089	108565999	82588277	301	22737											
LEF1	51176	broad.mit.edu	37	chr4	109010379	109010379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggggtgagaggatggaccGcatgggatggctgcaccacg	20	8	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:109010379G>A	uc003hyt.1	-	4	1104	c.449C>T	c.(448-450)GCG>GTG	p.A150V	LEF1_uc011cfj.1_Missense_Mutation_p.A35V|LEF1_uc011cfk.1_Missense_Mutation_p.A82V|LEF1_uc003hyu.1_Missense_Mutation_p.A150V|LEF1_uc003hyv.1_Missense_Mutation_p.A150V|LEF1_uc010imb.1_RNA	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1 isoform 1	150	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		AGGATGGACCGCATGGGATGG	0.493													A	109010379	G	A	109010379	3	1	25	1	0	0	0	0	1	0	0	0	8714	1087	38	1	866	1	LEF1	4	109010379	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	444380	109010379	82143897	302	22738											
PITX2	5308	broad.mit.edu	37	chr4	111553569	111553569	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcggctctcaggagagtcCgtgaactcgacctttttgat	10	10	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:111553569C>T	uc003iad.2	-	3	696	c.114G>A	c.(112-114)ACG>ACA	p.T38T	PITX2_uc003iae.2_Intron|PITX2_uc010iml.2_5'UTR|PITX2_uc003iaf.2_Silent_p.T38T	NM_153426	NP_700475	Q99697	PITX2_HUMAN	paired-like homeodomain transcription factor 2	38					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CAGGAGAGTCCGTGAACTCGA	0.652													T	111553569	C	T	111553569	2	4	25	1	0	0	0	0	0	0	0	1	11955	639	23	1		1	PITX2	4	111553569	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2543190	111553569	79600707	303	22739											
PITX2	5308	broad.mit.edu	37	chr4	111554160	111554160	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagttggtctccattccccGttatctgcaaaacagaagag	9	11	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:111554160G>A	uc003iad.2	-	2	577	c.-5C>T	c.(-7--3)AACGG>AATGG		PITX2_uc003iae.2_Translation_Start_Site|PITX2_uc010iml.2_Translation_Start_Site|PITX2_uc003iaf.2_Translation_Start_Site	NM_153426	NP_700475	Q99697	PITX2_HUMAN	paired-like homeodomain transcription factor 2						determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TCCATTCCCCGTTATCTGCAA	0.577													A	111554160	G	A	111554160	1	1	25	1	0	0	0	0	0	0	0	0	11955	1160	40	1		1	PITX2	4	111554160	Translation_Start_Site	SNP	G	TCGA-BR-4370-01A-01D-1158-08	591	111554160	79600116	304	22740											
ANK2	287	broad.mit.edu	37	chr4	114251594	114251594	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctggccagtcgcctgatCgaagttggaccttctggtgc	14	12	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:114251594C>T	uc003ibe.3	+	27	3193	c.3093C>T	c.(3091-3093)ATC>ATT	p.I1031I	ANK2_uc003ibd.3_Silent_p.I1022I|ANK2_uc003ibf.3_Silent_p.I1031I|ANK2_uc011cgc.1_Silent_p.I240I|ANK2_uc003ibg.3_Silent_p.I59I|ANK2_uc003ibc.2_Silent_p.I1007I|ANK2_uc011cgb.1_Silent_p.I1046I	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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)		GTCGCCTGATCGAAGTTGGAC	0.532													T	114251594	C	T	114251594	2	4	25	1	0	0	0	0	0	0	0	1	621	874	31	1		1	ANK2	4	114251594	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2697434	114251594	76902682	305	22741											
UGT8	7368	broad.mit.edu	37	chr4	115544628	115544628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaaggatgaaaaataccGgtgtttacctcatttccaga	8	8	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:115544628G>A	uc003ibs.2	+	2	1114	c.592G>A	c.(592-594)GGT>AGT	p.G198S	UGT8_uc003ibt.2_Missense_Mutation_p.G198S|UGT8_uc011cge.1_RNA	NM_001128174	NP_001121646	Q16880	CGT_HUMAN	UDP-galactose-ceramide galactosyltransferase 8	198					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			ovary(1)|skin(1)	2		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		GAAAAATACCGGTGTTTACCT	0.463													A	115544628	G	A	115544628	3	1	25	1	0	0	0	0	1	0	0	0	16962	1116	39	1	594	1	UGT8	4	115544628	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1293034	115544628	75609648	306	22742											
PRSS12	8492	broad.mit.edu	37	chr4	119203326	119203326	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccctgtaaaccgacccttaTaacgttcttcacaaaacctt	3	14	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:119203326T>C	uc003ica.1	-	13	2440	c.2393A>G	c.(2392-2394)TAT>TGT	p.Y798C		NM_003619	NP_003610	P56730	NETR_HUMAN	neurotrypsin precursor	798	Peptidase S1.					membrane	scavenger receptor activity			skin(1)	1						CCGACCCTTATAACGTTCTTC	0.478													C	119203326	T	C	119203326	3	2	25	1	0	0	0	0	1	0	0	0	12615	1406	49	3	238	3	PRSS12	4	119203326	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	3658698	119203326	71950950	307	22743											
SEC24D	9871	broad.mit.edu	37	chr4	119674004	119674005	+	Frame_Shift_Ins	INS	-	-	A													gaactttgttatatgtgataINSaaacccactcgaattgcaga					rs138187019	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:119674003_119674004T>TA	uc003ici.4	-	11	1733_1734	c.1461_1462A>TA	c.(1459-1464)tttatcfs	p.F487fs	SEC24D_uc003ich.4_Non-coding_Transcript|SEC24D_uc003icj.4_Frame_Shift_Ins_p.F488fs|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	487					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TTATATGTGATAAAACCCACTC	0.376													A	119674005	-	A	119674004	7	5	25	1	0	1	1	0	0	0	0	0	13997	359	13	0	1685	0	SEC24D	4	119674004	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	470678	119674004	71480272	308	22744											
USP53	54532	broad.mit.edu	37	chr4	120182871	120182871	+	Splice_Site	DEL	T	T	-													taccaatttttttaaacagcTtttttatagagttactgatg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:120182870_120182870CT>C	uc003ics.4	+	11	1889	c.823_splice	c.e11-1	p.L275_splice	USP53_uc003icr.4_Splice_Site_p.L275_splice|USP53_uc003icu.4_Splice_Site	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.	275					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TTTTAAACAGCTTTTTTATAG	0.299													-	120182871	T	-	120182871	8	5	25	1	0	1	0	1	0	0	1	0	17081	1623	56	0	854	0	USP53	4	120182871	Splice_Site	DEL	T	TCGA-BR-4370-01A-01D-1158-08	508867	120182871	70971405	309	22745											
PRDM5	11107	broad.mit.edu	37	chr4	121738035	121738035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaacagagcactgaaaacttCgcgaagactcctttagactg	8	10	0	4			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:121738035C>T	uc003idn.2	-	6	945	c.695G>A	c.(694-696)CGA>CAA	p.R232Q	PRDM5_uc003ido.2_Intron|PRDM5_uc010ine.2_Intron|PRDM5_uc010inf.2_Intron	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	232					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2						CTGAAAACTTCGCGAAGACTC	0.373													T	121738035	C	T	121738035	3	4	25	1	0	0	0	0	1	0	0	0	12460	884	31	1	1241	1	PRDM5	4	121738035	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1555164	121738035	69416241	310	22746											
TNIP3	79931	broad.mit.edu	37	chr4	122075821	122075821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtaattcttcatttaggCgttccttttccttctgaagt	6	9	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:122075821C>T	uc010ing.2	-	5	573	c.377G>A	c.(376-378)CGC>CAC	p.R126H	TNIP3_uc010inh.2_Missense_Mutation_p.R126H|TNIP3_uc011cgj.1_Missense_Mutation_p.R184H|TNIP3_uc010ini.2_Missense_Mutation_p.R126H	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	126	Potential.									ovary(1)	1						TTCATTTAGGCGTTCCTTTTC	0.318													T	122075821	C	T	122075821	3	4	25	1	0	0	0	0	1	0	0	0	16313	768	27	1	628	1	TNIP3	4	122075821	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	337786	122075821	69078455	311	22747											
KIAA1109	84162	broad.mit.edu	37	chr4	123097031	123097031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatggattcatcatttttcGgtggtggaaaatgtataacc	10	5	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:123097031G>A	uc003ieh.2	+	4	365	c.320G>A	c.(319-321)CGG>CAG	p.R107Q		NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	107					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ATCATTTTTCGGTGGTGGAAA	0.279													A	123097031	G	A	123097031	3	1	25	1	0	0	0	0	1	0	0	0	8208	1116	39	1	334	1	KIAA1109	4	123097031	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1021210	123097031	68057245	312	22748											
KIAA1109	84162	broad.mit.edu	37	chr4	123176343	123176343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaggcttacaaaagttgctCgctttctccaagaaaatcct	6	11	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:123176343C>T	uc003ieh.2	+	38	6328	c.6283C>T	c.(6283-6285)CGC>TGC	p.R2095C	KIAA1109_uc003iel.1_Missense_Mutation_p.R30C|KIAA1109_uc003iek.2_Missense_Mutation_p.R714C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2095					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AAAAGTTGCTCGCTTTCTCCA	0.338													T	123176343	C	T	123176343	3	4	25	1	0	0	0	0	1	0	0	0	8208	884	31	1	6433	1	KIAA1109	4	123176343	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	79312	123176343	67977933	313	22749											
KIAA1109	84162	broad.mit.edu	37	chr4	123202735	123202735	+	Frame_Shift_Del	DEL	A	A	-													tgcaaccccactaccttctgAaaaaaccccaacaagtgtta							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:123202734_123202734GA>G	uc003ieh.3	+	49	8887	c.8842_8842GA>G	c.(8842-8844)gaafs	p.E2948fs	KIAA1109_uc003iel.1_Frame_Shift_Del_p.E883fs	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2948					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACTACCTTCTGAAAAAACCCC	0.343													-	123202735	A	-	123202735	7	5	25	1	0	1	0	1	0	0	0	0	8208	246	9	0	9041	0	KIAA1109	4	123202735	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	26392	123202735	67951541	314	22750											
KIAA1109	84162	broad.mit.edu	37	chr4	123227182	123227182	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaccaattgtttatgcacagCctgtggcctttgatagaggt	11	8	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:123227182C>G	uc003ieh.2	+	55	9868	c.9823C>G	c.(9823-9825)CCT>GCT	p.P3275A	KIAA1109_uc003iel.1_Missense_Mutation_p.P1210A	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3275					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TTATGCACAGCCTGTGGCCTT	0.388													G	123227182	C	G	123227182	3	3	25	1	0	0	0	0	1	0	0	0	8208	739	26	5	10041	5	KIAA1109	4	123227182	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	24447	123227182	67927094	315	22751											
BBS12	166379	broad.mit.edu	37	chr4	123664621	123664621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctggacatgtgcctatcGtttgtattatgctctaaaag	9	7	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:123664621G>A	uc003ieu.2	+	2	1767	c.1574G>A	c.(1573-1575)CGT>CAT	p.R525H		NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	525					cellular protein metabolic process	cilium	ATP binding			ovary(2)	2						TGTGCCTATCGTTTGTATTAT	0.403									Bardet-Biedl_syndrome				A	123664621	G	A	123664621	3	1	25	1	0	0	0	0	1	0	0	0	1337	1145	40	1	1576	1	BBS12	4	123664621	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	437439	123664621	67489655	316	22752											
FAT4	79633	broad.mit.edu	37	chr4	126411904	126411904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaacactacaagcagttcCgcagccacacaccaaaattt	4	14	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:126411904C>T	uc003ifj.3	+	17	13927	c.13927C>T	c.(13927-13929)CGC>TGC	p.R4643C	FAT4_uc011cgp.1_Missense_Mutation_p.R2884C|FAT4_uc003ifi.1_Missense_Mutation_p.R2120C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4643	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CAAGCAGTTCCGCAGCCACAC	0.517													T	126411904	C	T	126411904	3	4	25	1	0	0	0	0	1	0	0	0	5692	652	23	1	13993	1	FAT4	4	126411904	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2747283	126411904	64742372	317	22753											
PCDH10	57575	broad.mit.edu	37	chr4	134071459	134071459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcggctcgcgggtttcagaCggtgcccaactcaaggaccc	12	14	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:134071459C>T	uc003iha.2	+	1	990	c.164C>T	c.(163-165)ACG>ATG	p.T55M	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.T55M	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	55	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GGGTTTCAGACGGTGCCCAAC	0.517													T	134071459	C	T	134071459	3	4	25	1	0	0	0	0	1	0	0	0	11507	536	19	1	166	1	PCDH10	4	134071459	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	7659555	134071459	57082817	318	22754											
SLC7A11	23657	broad.mit.edu	37	chr4	139140513	139140513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgtctttaaagttctgcGtttgacctgtaattagaata	9	6	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:139140513G>A	uc011chb.1	-	5	933	c.653C>T	c.(652-654)ACG>ATG	p.T218M		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	solute carrier family 7, (cationic amino acid	218	Extracellular (Potential).				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			skin(1)	1	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	AAAGTTCTGCGTTTGACCTGT	0.383													A	139140513	G	A	139140513	3	1	25	1	0	0	0	0	1	0	0	0	14694	1145	40	1	884	1	SLC7A11	4	139140513	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	5069054	139140513	52013763	319	22755											
CLGN	1047	broad.mit.edu	37	chr4	141321537	141321537	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tataaagatgagtcttcctgTctgtaaagaactttttaagg	8	5	2	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:141321537T>A	uc011chi.1	-	8	886	c.668A>T	c.(667-669)GAC>GTC	p.D223V	CLGN_uc003iii.2_Missense_Mutation_p.D223V	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	223	Lumenal (Potential).				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)					AGTCTTCCTGTCTGTAAAGAA	0.254													A	141321537	T	A	141321537	3	1	25	1	0	0	0	0	1	0	0	0	3524	1667	58	5	1200	5	CLGN	4	141321537	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	2181024	141321537	49832739	320	22756											
HHIP	64399	broad.mit.edu	37	chr4	145636548	145636548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtagaggctacttttcCggtcacatcttgggatttgg	11	9	2	1	rs141850394	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:145636548C>T	uc003ijs.1	+	10	2299	c.1644C>T	c.(1642-1644)TCC>TCT	p.S548S		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	548						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCTACTTTTCCGGTCACATCT	0.443													T	145636548	C	T	145636548	2	4	25	1	0	0	0	0	0	0	0	1	7092	639	23	1		1	HHIP	4	145636548	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	4315011	145636548	45517728	321	22757											
ZNF827	152485	broad.mit.edu	37	chr4	146697029	146697029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtactcaccagcttcaCggaatggacggtcaagtgct	11	11	4	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:146697029C>T	uc003ikn.2	-	10	2653	c.2605G>A	c.(2605-2607)GTG>ATG	p.V869M	ZNF827_uc003ikm.2_Missense_Mutation_p.V869M|ZNF827_uc010iox.2_Missense_Mutation_p.V519M|ZNF827_uc003ikl.2_Translation_Start_Site	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	869					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					ACCAGCTTCACGGAATGGACG	0.498													T	146697029	C	T	146697029	3	4	25	1	0	0	0	0	1	0	0	0	18177	536	19	1	644	1	ZNF827	4	146697029	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1060481	146697029	44457247	322	22758											
KIAA0922	23240	broad.mit.edu	37	chr4	154548824	154548824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgccgggcccacaggtGttgaagaagataaaggtgag	14	8	0	4			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:154548824G>A	uc003inm.3	+	31	4241	c.4189G>A	c.(4189-4191)GTT>ATT	p.V1397I	KIAA0922_uc010ipp.2_Missense_Mutation_p.V1398I|KIAA0922_uc010ipq.2_Missense_Mutation_p.V1166I	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	1397	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				GCCCACAGGTGTTGAAGAAGA	0.532													A	154548824	G	A	154548824	3	1	25	1	0	0	0	0	1	0	0	0	8201	1377	48	4	4314	4	KIAA0922	4	154548824	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	7851795	154548824	36605452	323	22759											
TLR2	7097	broad.mit.edu	37	chr4	154625419	154625419	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatacacagtgtaacaggcTgcattcccaagacactggaa	9	10	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:154625419T>C	uc003inq.2	+	3	1579	c.1360T>C	c.(1360-1362)TGC>CGC	p.C454R	TLR2_uc003inr.2_Missense_Mutation_p.C454R|TLR2_uc003ins.2_Missense_Mutation_p.C454R	NM_003264	NP_003255	O60603	TLR2_HUMAN	toll-like receptor 2 precursor	454	LRR 11.|Extracellular (Potential).				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			ovary(1)|lung(1)|breast(1)	3	all_hematologic(180;0.093)	Renal(120;0.117)				TGTAACAGGCTGCATTCCCAA	0.348													C	154625419	T	C	154625419	3	2	25	1	0	0	0	0	1	0	0	0	15948	1580	55	3	1362	3	TLR2	4	154625419	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	76595	154625419	36528857	324	22760											
PDGFC	56034	broad.mit.edu	37	chr4	157684304	157684304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggtgctccagggccacgtCggtgagtgatttgtgcaatc	14	9	0	2	rs150603208	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:157684304C>T	uc003iph.1	-	6	1467	c.976G>A	c.(976-978)GAC>AAC	p.D326N	PDGFC_uc003ipi.1_Missense_Mutation_p.D163N|PDGFC_uc011cis.1_Missense_Mutation_p.D163N|PDGFC_uc011cir.1_Missense_Mutation_p.D170N	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	platelet-derived growth factor C precursor	326					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			ovary(1)|lung(1)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AGGGCCACGTCGGTGAGTGAT	0.527													T	157684304	C	T	157684304	3	4	25	1	0	0	0	0	1	0	0	0	11659	884	31	1	65	1	PDGFC	4	157684304	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3058885	157684304	33469972	325	22761											
GLRB	2743	broad.mit.edu	37	chr4	158065087	158065087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctggatcaacccggacGcgagtgctgccagagtgccc	12	15	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:158065087G>A	uc003ipj.2	+	8	1082	c.880G>A	c.(880-882)GCG>ACG	p.A294T		NM_000824	NP_000815	P48167	GLRB_HUMAN	glycine receptor, beta isoform A precursor	294					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			skin(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CAACCCGGACGCGAGTGCTGC	0.488													A	158065087	G	A	158065087	3	1	25	1	0	0	0	0	1	0	0	0	6458	1087	38	1	906	1	GLRB	4	158065087	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	380783	158065087	33089189	326	22762											
GRIA2	2891	broad.mit.edu	37	chr4	158233934	158233934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgacaagaaagatgagatGtaccgatcactttttcaaga	8	6	2	5			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:158233934G>A	uc003ipm.3	+	4	1032	c.573G>A	c.(571-573)ATG>ATA	p.M191I	GRIA2_uc011cit.1_Missense_Mutation_p.M144I|GRIA2_uc003ipl.3_Missense_Mutation_p.M191I|GRIA2_uc003ipk.3_Missense_Mutation_p.M144I|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	191	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AAGATGAGATGTACCGATCAC	0.403													A	158233934	G	A	158233934	3	1	25	1	0	0	0	0	1	0	0	0	6768	1377	48	4	587	4	GRIA2	4	158233934	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	168847	158233934	32920342	327	22763											
GRIA2	2891	broad.mit.edu	37	chr4	158233975	158233975	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctggagttaaaaaaggaacGgcgtgtaattctggactgtg	13	5	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:158233975G>T	uc003ipm.3	+	4	1073	c.614G>T	c.(613-615)CGG>CTG	p.R205L	GRIA2_uc011cit.1_Missense_Mutation_p.R158L|GRIA2_uc003ipl.3_Missense_Mutation_p.R205L|GRIA2_uc003ipk.3_Missense_Mutation_p.R158L|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	205	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AAAAAGGAACGGCGTGTAATT	0.373													T	158233975	G	T	158233975	3	4	25	1	0	0	0	0	1	0	0	0	6768	1116	39	5	628	5	GRIA2	4	158233975	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	41	158233975	32920301	328	22764											
FSTL5	56884	broad.mit.edu	37	chr4	162680595	162680595	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaattcttcaagagccaggTgcttgtcagcattaaaatca	7	8	4	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:162680595T>C	uc003iqh.2	-	6	1131	c.695A>G	c.(694-696)CAC>CGC	p.H232R	FSTL5_uc003iqi.2_Missense_Mutation_p.H231R|FSTL5_uc010iqv.2_Missense_Mutation_p.H231R	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	232	2 (Potential).|EF-hand 2.					extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AAGAGCCAGGTGCTTGTCAGC	0.343													C	162680595	T	C	162680595	3	2	25	1	0	0	0	0	1	0	0	0	6080	1696	59	3	1892	3	FSTL5	4	162680595	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	4446620	162680595	28473681	329	22765											
TLL1	7092	broad.mit.edu	37	chr4	166924664	166924664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgataggcttttggcatgaaCacacaagaccagatcgagat	10	8	0	5			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:166924664C>T	uc003irh.1	+	6	1401	c.754C>T	c.(754-756)CAC>TAC	p.H252Y	TLL1_uc011cjn.1_Missense_Mutation_p.H252Y|TLL1_uc011cjo.1_Missense_Mutation_p.H76Y	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	252	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTGGCATGAACACACAAGACC	0.438													T	166924664	C	T	166924664	3	4	25	1	0	0	0	0	1	0	0	0	15942	478	17	4	776	4	TLL1	4	166924664	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	4244069	166924664	24229612	330	22766											
TLL1	7092	broad.mit.edu	37	chr4	167020437	167020437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcctgggcagagtgtggcGgacgattgaaagcagaatca	14	7	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:167020437G>A	uc003irh.1	+	20	3312	c.2665G>A	c.(2665-2667)GGA>AGA	p.G889R	TLL1_uc011cjn.1_Missense_Mutation_p.G912R|TLL1_uc011cjo.1_Missense_Mutation_p.G713R	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	889	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGAGTGTGGCGGACGATTGAA	0.418													A	167020437	G	A	167020437	3	1	25	1	0	0	0	0	1	0	0	0	15942	1117	39	1	2743	1	TLL1	4	167020437	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	95773	167020437	24133839	331	22767											
DDX60	55601	broad.mit.edu	37	chr4	169227765	169227765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actcttttgataagcatctcGaaaatgttgttcgaacatca	6	8	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:169227765G>A	uc003irp.2	-	5	663	c.371C>T	c.(370-372)TCG>TTG	p.S124L		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	124							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TAAGCATCTCGAAAATGTTGT	0.393													A	169227765	G	A	169227765	3	1	25	1	0	0	0	0	1	0	0	0	4378	1059	37	1	4903	1	DDX60	4	169227765	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2207328	169227765	21926511	332	22768											
SH3RF1	57630	broad.mit.edu	37	chr4	170043340	170043340	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccagcagcagcagcagcGgcggtggcgcctggtggtgt	17	11	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:170043340G>A	uc003isa.1	-	7	1592	c.1257C>T	c.(1255-1257)GCC>GCT	p.A419A	SH3RF1_uc010irc.1_Silent_p.A119A	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	419	Poly-Ala.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CAGCAGCAGCGGCGGTGGCGC	0.582													A	170043340	G	A	170043340	2	1	25	1	0	0	0	0	0	0	0	1	14258	1103	39	1		1	SH3RF1	4	170043340	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	815575	170043340	21110936	333	22769											
SH3RF1	57630	broad.mit.edu	37	chr4	170190147	170190147	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctctgtttgatgccatccaGaagtctgaccagcaagatgt	9	11	2	4			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:170190147G>T	uc003isa.1	-	2	552	c.217C>A	c.(217-219)CTG>ATG	p.L73M		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	73						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		ATGCCATCCAGAAGTCTGACC	0.527													T	170190147	G	T	170190147	3	4	25	1	0	0	0	0	1	0	0	0	14258	933	33	5	2493	5	SH3RF1	4	170190147	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	146807	170190147	20964129	334	22770											
VEGFC	7424	broad.mit.edu	37	chr4	177713367	177713367	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgagaggtcgagtccggaCtcgaaggcggcggcggcggc	19	12	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:177713367C>T	uc003ius.1	-	1	529	c.99G>A	c.(97-99)GAG>GAA	p.E33E		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	33					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(5)	5		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CGAGTCCGGACTCGAAggcgg	0.582													T	177713367	C	T	177713367	2	4	25	1	0	0	0	0	0	0	0	1	17149	564	20	4		4	VEGFC	4	177713367	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	7523220	177713367	13440909	335	22771											
ODZ3	55714	broad.mit.edu	37	chr4	183267888	183267888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgcggaaatggggctccCtcacagaggttactctatca	11	10	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:183267888C>T	uc003ivd.1	+	2	354	c.317C>T	c.(316-318)CCT>CTT	p.P106L	ODZ3_uc010irv.1_Missense_Mutation_p.P106L	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	106	Cytoplasmic (Potential).|Teneurin N-terminal.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ATGGGGCTCCCTCACAGAGGT	0.498													T	183267888	C	T	183267888	3	4	25	1	0	0	0	0	1	0	0	0	10836	681	24	4	323	4	ODZ3	4	183267888	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	5554521	183267888	7886388	336	22772											
C4orf41	60684	broad.mit.edu	37	chr4	184614172	184614172	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtgtggttttaaattgGcagggaggaggaggagatgc	18	2	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:184614172G>A	uc003ivx.2	+	20	2285	c.2109G>A	c.(2107-2109)TGG>TGA	p.W703*	C4orf41_uc003ivw.2_Nonsense_Mutation_p.W703*|C4orf41_uc010isc.2_Nonsense_Mutation_p.W47*|C4orf41_uc003ivy.2_Nonsense_Mutation_p.W309*	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	703											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		TTTTAAATTGGCAGGGAGGAG	0.453													A	184614172	G	A	184614172	4	1	25	1	0	0	0	0	0	1	0	0	2270	1212	42	2	2183	2	C4orf41	4	184614172	Nonsense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1346284	184614172	6540104	337	22773											
IRF2	3660	broad.mit.edu	37	chr4	185340636	185340636	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttagtacctgtatggattgcCcagtttctaaagagtggtgc	11	7	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:185340636C>A	uc003iwf.3	-	3	374	c.174G>T	c.(172-174)TGG>TGT	p.W58C		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	58	IRF tryptophan pentad repeat.			W -> R (in Ref. 1; CAA34073).	blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.W58R(1)		ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TATGGATTGCCCAGTTTCTAA	0.408													A	185340636	C	A	185340636	3	1	25	1	0	0	0	0	1	0	0	0	7828	624	22	5	903	5	IRF2	4	185340636	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	726464	185340636	5813640	338	22774											
SORBS2	8470	broad.mit.edu	37	chr4	186578685	186578685	+	Frame_Shift_Del	DEL	G	G	-													ttcctctgaggatcggtacaGggggatagagctgctggtgg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:186578684_186578684AG>A	uc003iyg.3	-	4	451	c.419_419CT>T	c.(418-420)ctgfs	p.L140fs	SORBS2_uc003iyh.3_Frame_Shift_Del_p.L233fs|SORBS2_uc011ckw.2_Frame_Shift_Del_p.L123fs|SORBS2_uc003iyi.3_Frame_Shift_Del_p.L140fs|SORBS2_uc011ckx.2_Frame_Shift_Del_p.L100fs|SORBS2_uc003iyk.3_Frame_Shift_Del_p.L140fs|SORBS2_uc003iym.3_Frame_Shift_Del_p.L154fs|SORBS2_uc003iyl.3_Frame_Shift_Del_p.L54fs|SORBS2_uc003iyn.1_Frame_Shift_Del_p.L100fs|SORBS2_uc011cky.1_Frame_Shift_Del_p.L117fs|SORBS2_uc011cku.2_5'Flank|SORBS2_uc011ckv.2_5'Flank|SORBS2_uc003iyd.3_Frame_Shift_Del_p.L233fs|SORBS2_uc003iye.3_Frame_Shift_Del_p.L54fs|SORBS2_uc003iya.3_Frame_Shift_Del_p.L54fs|SORBS2_uc003iyb.3_Frame_Shift_Del_p.L54fs|SORBS2_uc003iyc.3_Frame_Shift_Del_p.L54fs|SORBS2_uc003iyf.3_Frame_Shift_Del_p.L117fs|SORBS2_uc003iyo.1_5'Flank	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	54						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GGATCGGTACAGGGGGATAGA	0.527													-	186578685	G	-	186578685	7	5	25	1	0	1	0	1	0	0	0	0	14928	991	35	0	3546	0	SORBS2	4	186578685	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	1238049	186578685	4575591	339	22775											
ZDHHC11	79844	broad.mit.edu	37	chr5	819657	819657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgtgccatcgagccccCgtctgggtgtacacgagtgg	13	13	1	0	rs148805710	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:819657C>T	uc011cma.1	-	10	1513	c.1129G>A	c.(1129-1131)GGG>AGG	p.G377R	ZDHHC11_uc010itc.2_RNA|ZDHHC11_uc003jbj.2_RNA	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	377						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)|pancreas(1)	2			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			ATCGAGCCCCCGTCTGGGTGT	0.582													T	819657	C	T	819657	3	4	25	1	0	0	0	0	1	0	0	0	17598	652	23	1	121	1	ZDHHC11	5	819657	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08		819657	180095603	340	22776											
SLC12A7	10723	broad.mit.edu	37	chr5	1083980	1083980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaagaggccccagagcgCggaggtggctgagttgttgt	18	8	0	4	rs140054338		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:1083980C>T	uc003jbu.2	-	8	1075	c.1009G>A	c.(1009-1011)GCG>ACG	p.A337T		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	337					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCCCAGAGCGCGGAGGTGGCT	0.662													T	1083980	C	T	1083980	3	4	25	1	0	0	0	0	1	0	0	0	14388	768	27	1	2310	1	SLC12A7	5	1083980	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	264323	1083980	179831280	341	22777											
IRX4	50805	broad.mit.edu	37	chr5	1879904	1879904	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtgctggtggtctcgcgCgtggcgttcttgcgccgcgt	17	12	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:1879904C>T	uc003jcz.2	-	4	569	c.450G>A	c.(448-450)ACG>ACA	p.T150T	IRX4_uc011cmf.1_Silent_p.T11T	NM_016358	NP_057442	P78413	IRX4_HUMAN	iroquois homeobox 4	150	Homeobox; TALE-type.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(108;0.242)		TGGTCTCGCGCGTGGCGTTCT	0.642													T	1879904	C	T	1879904	2	4	25	1	0	0	0	0	0	0	0	1	7846	755	27	1		1	IRX4	5	1879904	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	795924	1879904	179035356	342	22778											
PAPD7	11044	broad.mit.edu	37	chr5	6754978	6754978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgggcaacaggggacacCaccagtataaccgcaccggc	12	14	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:6754978C>T	uc003jdx.1	+	13	1678	c.1549C>T	c.(1549-1551)CAC>TAC	p.H517Y	PAPD7_uc011cmn.1_Missense_Mutation_p.H507Y|PAPD7_uc010itl.1_Missense_Mutation_p.H337Y	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	517					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			ovary(1)	1						CAGGGGACACCACCAGTATAA	0.622													T	6754978	C	T	6754978	3	4	25	1	0	0	0	0	1	0	0	0	11426	594	21	4	1595	4	PAPD7	5	6754978	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	4875074	6754978	174160282	343	22779											
CTNND2	1501	broad.mit.edu	37	chr5	11732318	11732318	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catccccgttggaggtgtttAagccggggctcagggaactc	14	11	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:11732318A>G	uc003jfa.1	-	2	249	c.104T>C	c.(103-105)TTA>TCA	p.L35S	CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	35					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						GGAGGTGTTTAAGCCGGGGCT	0.507													G	11732318	A	G	11732318	3	3	25	1	0	0	0	0	1	0	0	0	4020	372	13	3	3657	3	CTNND2	5	11732318	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	4977340	11732318	169182942	344	22780											
TRIO	7204	broad.mit.edu	37	chr5	14363855	14363855	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcagattatctcagacctCgagtcttggaatgatgagct	9	8	3	4	rs141315662		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:14363855C>T	uc003jff.2	+	14	2412	c.2406C>T	c.(2404-2406)CTC>CTT	p.L802L	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.L753L|TRIO_uc003jfh.1_Silent_p.L451L	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	802					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					TCTCAGACCTCGAGTCTTGGA	0.433													T	14363855	C	T	14363855	2	4	25	1	0	0	0	0	0	0	0	1	16549	871	31	1		1	TRIO	5	14363855	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2631537	14363855	166551405	345	22781											
C5orf22	55322	broad.mit.edu	37	chr5	31534451	31534451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtaagttttttacatttcGactcacatccagacctcctt	4	11	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:31534451G>A	uc003jhj.3	+	2	281	c.154G>A	c.(154-156)GAC>AAC	p.D52N	RNASEN_uc003jhh.2_5'Flank|RNASEN_uc003jhg.2_5'Flank|RNASEN_uc003jhi.2_5'Flank|C5orf22_uc011cnw.1_RNA|C5orf22_uc003jhk.3_5'UTR	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	hypothetical protein LOC55322	52										ovary(2)	2						TTTACATTTCGACTCACATCC	0.398													A	31534451	G	A	31534451	3	1	25	1	0	0	0	0	1	0	0	0	2285	1058	37	1	160	1	C5orf22	5	31534451	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	17170596	31534451	149380809	346	22782											
PDZD2	23037	broad.mit.edu	37	chr5	32090175	32090175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcattccagggggcccctcGggggaggaccatctctactt	13	13	1	0	rs138558075		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:32090175G>A	uc003jhl.2	+	20	7009	c.6621G>A	c.(6619-6621)TCG>TCA	p.S2207S	PDZD2_uc003jhm.2_Silent_p.S2207S	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	2207					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GGGGCCCCTCGGGGGAGGACC	0.582													A	32090175	G	A	32090175	2	1	25	1	0	0	0	0	0	0	0	1	11701	1103	39	1		1	PDZD2	5	32090175	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	555724	32090175	148825085	347	22783											
CAPSL	133690	broad.mit.edu	37	chr5	35921207	35921207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccatctctcggtcatggcGcgctgtccctgccatctgag	11	16	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:35921207G>A	uc003jjt.1	-	2	111	c.16C>T	c.(16-18)CGC>TGC	p.R6C	CAPSL_uc003jju.1_Missense_Mutation_p.R6C	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	6						cytoplasm	calcium ion binding			skin(1)	1	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CGGTCATGGCGCGCTGTCCCT	0.612													A	35921207	G	A	35921207	3	1	25	1	0	0	0	0	1	0	0	0	2639	1087	38	1	626	1	CAPSL	5	35921207	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3831032	35921207	144994053	348	22784											
NIPBL	25836	broad.mit.edu	37	chr5	36958222	36958222	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagagagttgaaagataacCttggcagtgatgacccagaa	11	8	0	6			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:36958222C>A	uc003jkl.3	+	4	746	c.247C>A	c.(247-249)CTT>ATT	p.L83I	NIPBL_uc003jkk.3_Missense_Mutation_p.L83I	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	83					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAAAGATAACCTTGGCAGTGA	0.393													A	36958222	C	A	36958222	3	1	25	1	0	0	0	0	1	0	0	0	10428	681	24	5	257	5	NIPBL	5	36958222	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1037015	36958222	143957038	349	22785											
ITGA1	3672	broad.mit.edu	37	chr5	52227934	52227934	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtaaacatttctatcccGgtaaaatatgaagttggact	8	6	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:52227934G>A	uc003jou.2	+	22	2881	c.2829G>A	c.(2827-2829)CCG>CCA	p.P943P	ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Silent_p.P474P	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	943	Extracellular (Potential).				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTTCTATCCCGGTAAAATATG	0.318													A	52227934	G	A	52227934	2	1	25	1	0	0	0	0	0	0	0	1	7872	1103	39	1		1	ITGA1	5	52227934	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	15269712	52227934	128687326	350	22786											
DHX29	54505	broad.mit.edu	37	chr5	54589966	54589966	+	Frame_Shift_Del	DEL	T	T	-													cttccatatttttttcttccTtttttggctagaaagagaaa							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:54589965_54589965CT>C	uc003jpx.3	-	5	780	c.660_660AG>G	c.(658-660)aagfs	p.K220fs	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	220							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTTTTTCTTCCTTTTTTGGCT	0.294													-	54589966	T	-	54589966	7	5	25	1	0	1	0	1	0	0	0	0	4503	1609	56	0	3538	0	DHX29	5	54589966	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	2362032	54589966	126325294	351	22787											
MAST4	375449	broad.mit.edu	37	chr5	66459966	66459966	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatggtctctgccactccctCgacaggggcatctctgggaa	12	13	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:66459966C>T	uc003jut.1	+	28	4460	c.4392C>T	c.(4390-4392)CTC>CTT	p.L1464L	MAST4_uc003juw.2_Silent_p.L1392L|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1656						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCCACTCCCTCGACAGGGGCA	0.652													T	66459966	C	T	66459966	2	4	25	1	0	0	0	0	0	0	0	1	9327	871	31	1		1	MAST4	5	66459966	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	11870000	66459966	114455294	352	22788											
CCNB1	891	broad.mit.edu	37	chr5	68473458	68473458	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggctgtggcaaaggtgtaActtgtaaacttgagttggag	14	4	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:68473458A>G	uc003jvm.2	+	9	1479	c.1302A>G	c.(1300-1302)TAA>TAG	p.*434*	CCNB1_uc010ixb.2_Silent_p.*397*	NM_031966	NP_114172	P14635	CCNB1_HUMAN	cyclin B1	434					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole					0		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CAAAGGTGTAACTTGTAAACT	0.383													G	68473458	A	G	68473458	2	3	25	1	0	0	0	0	0	0	0	1	2911	50	2	3		3	CCNB1	5	68473458	Silent	SNP	A	TCGA-BR-4370-01A-01D-1158-08	2013492	68473458	112441802	353	22789											
HMGCR	3156	broad.mit.edu	37	chr5	74647031	74647031	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcacatctcctgtagtgacAcaaaagaaagtcccagacaa	6	11	2	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:74647031A>G	uc003kdp.2	+	10	1236	c.1080A>G	c.(1078-1080)ACA>ACG	p.T360T	HMGCR_uc011cst.1_Silent_p.T380T|HMGCR_uc003kdq.2_Silent_p.T360T	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	360	Linker.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CTGTAGTGACACAAAAGAAAG	0.408													G	74647031	A	G	74647031	2	3	25	1	0	0	0	0	0	0	0	1	7231	146	6	3		3	HMGCR	5	74647031	Silent	SNP	A	TCGA-BR-4370-01A-01D-1158-08	6173573	74647031	106268229	354	22790											
CMYA5	202333	broad.mit.edu	37	chr5	79033262	79033262	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttcagcaaaaagcaacTatgctcaatttatatctaat	4	8	4	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:79033262T>C	uc003kgc.2	+	2	8746	c.8674T>C	c.(8674-8676)TAT>CAT	p.Y2892H		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2892						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAAAGCAACTATGCTCAATT	0.398													C	79033262	T	C	79033262	3	2	25	1	0	0	0	0	1	0	0	0	3590	1522	53	3	8680	3	CMYA5	5	79033262	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	4386231	79033262	101881998	355	22791											
VCAN	1462	broad.mit.edu	37	chr5	82818051	82818051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacctcaggcgctttctaCgccacagcccccagcaagca	9	17	2	0	rs149651541		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:82818051C>T	uc003kii.3	+	7	4282	c.3926C>T	c.(3925-3927)ACG>ATG	p.T1309M	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.T1309M|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1309	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GCGCTTTCTACGCCACAGCCC	0.448													T	82818051	C	T	82818051	3	4	25	1	0	0	0	0	1	0	0	0	17135	536	19	1	3948	1	VCAN	5	82818051	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3784789	82818051	98097209	356	22792											
GPR98	84059	broad.mit.edu	37	chr5	90124781	90124781	+	Frame_Shift_Del	DEL	T	T	-													gtaccacaggttgaagtgtaTttttttgtggaactatatga							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:90124780_90124780AT>A	uc003kju.3	+	76	16484	c.16388_16388AT>A	c.(16387-16389)tatfs	p.Y5463fs	GPR98_uc003kjt.3_Frame_Shift_Del_p.Y3169fs|GPR98_uc003kjw.3_Frame_Shift_Del_p.Y1124fs	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5463	Calx-beta 35.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTTGAAGTGTATTTTTTTGTG	0.318													-	90124781	T	-	90124781	7	5	25	1	0	1	0	1	0	0	0	0	6721	1500	52	0	16695	0	GPR98	5	90124781	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	7306730	90124781	90790479	357	22793											
NR2F1	7025	broad.mit.edu	37	chr5	92923980	92923980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctatgccgctgcacgtggCgccgttgctggccgccgccg	14	17	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:92923980C>T	uc003kkj.2	+	2	2508	c.821C>T	c.(820-822)GCG>GTG	p.A274V		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	274					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CTGCACGTGGCGCCGTTGCTG	0.672													T	92923980	C	T	92923980	3	4	25	1	0	0	0	0	1	0	0	0	10627	768	27	1	827	1	NR2F1	5	92923980	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2799199	92923980	87991280	358	22794											
FAM172A	83989	broad.mit.edu	37	chr5	93217343	93217343	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tacgtgtatcttcggcttttCtacttcaatatagttttcat	5	8	4	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:93217343C>A	uc010jbd.2	-	7	826	c.619G>T	c.(619-621)GAA>TAA	p.E207*	FAM172A_uc011cuf.1_Nonsense_Mutation_p.E161*|FAM172A_uc011cug.1_Nonsense_Mutation_p.E97*|FAM172A_uc011cuh.1_Nonsense_Mutation_p.E60*|FAM172A_uc011cui.1_RNA|FAM172A_uc011cuj.1_Intron|FAM172A_uc003kkm.3_Nonsense_Mutation_p.E207*	NM_032042	NP_114431	Q8WUF8	F172A_HUMAN	hypothetical protein LOC83989 isoform 1	207						endoplasmic reticulum|extracellular region					0						TTCGGCTTTTCTACTTCAATA	0.323													A	93217343	C	A	93217343	4	1	25	1	0	0	0	0	0	1	0	0	5492	922	32	5	651	5	FAM172A	5	93217343	Nonsense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	293363	93217343	87697917	359	22795											
RGMB	285704	broad.mit.edu	37	chr5	98115503	98115503	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtgacctcatgagccagaGgaattgttccaaggatggac	12	9	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:98115503G>T	uc003knc.2	+	4	881	c.479G>T	c.(478-480)AGG>ATG	p.R160M	RGMB_uc003knb.2_Missense_Mutation_p.R160M	NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	RGM domain family, member B	119					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding				0		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		ATGAGCCAGAGGAATTGTTCC	0.552													T	98115503	G	T	98115503	3	4	25	1	0	0	0	0	1	0	0	0	13281	1000	35	5	489	5	RGMB	5	98115503	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	4898160	98115503	82799757	360	22796											
ST8SIA4	7903	broad.mit.edu	37	chr5	100147676	100147676	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaagtacctatattttaagtCatcataataatgatatttga	4	4	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:100147676C>T	uc003knk.2	-	5	1283	c.955G>A	c.(955-957)GAC>AAC	p.D319N		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	319	Lumenal (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TATTTTAAGTCATCATAATAA	0.358													T	100147676	C	T	100147676	3	4	25	1	0	0	0	0	1	0	0	0	15233	826	29	4	128	4	ST8SIA4	5	100147676	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2032173	100147676	80767584	361	22797											
TSLP	85480	broad.mit.edu	37	chr5	110407586	110407586	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtggaattgggtgtccaCgtatgttcccttttgcctta	13	8	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:110407586C>T	uc003kpb.2	+	1	197	c.-2C>T	c.(-4-0)CACGT>CATGT		TSLP_uc003kpa.2_Intron|TSLP_uc010jbt.1_5'Flank	NM_033035	NP_149024	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin isoform 1							extracellular space	cytokine activity				0		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		TGGGTGTCCACGTATGTTCCC	0.458													T	110407586	C	T	110407586	1	4	25	1	0	0	0	0	0	0	0	0	16625	551	19	1		1	TSLP	5	110407586	Translation_Start_Site	SNP	C	TCGA-BR-4370-01A-01D-1158-08	10259910	110407586	70507674	362	22798											
YTHDC2	64848	broad.mit.edu	37	chr5	112868745	112868745	+	Splice_Site	DEL	A	A	-													gatccgattagaaagcaggtAaaaacagttctcatgtatct							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:112868744_112868744TA>T	uc003kqn.3	+	5	1044	c.842_splice	c.e5+2	p.R281_splice	YTHDC2_uc010jce.2_Splice_Site_p.R281_splice|YTHDC2_uc010jcf.2_Splice_Site	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	281	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGAAAGCAGGTAAAAACAGTT	0.383													-	112868745	A	-	112868745	8	5	25	1	0	1	0	1	0	0	1	0	17494	377	13	0		0	YTHDC2	5	112868745	Splice_Site	DEL	A	TCGA-BR-4370-01A-01D-1158-08	2461159	112868745	68046515	363	22799											
SEMA6A	57556	broad.mit.edu	37	chr5	115783233	115783233	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccgttgtgcatgagtggcgtGaggatggcctccggctttgg	17	9	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:115783233G>A	uc010jck.2	-	19	2878	c.2169C>T	c.(2167-2169)CTC>CTT	p.L723L	SEMA6A_uc003krx.3_Silent_p.L740L|SEMA6A_uc011cwe.1_Silent_p.L102L|SEMA6A_uc003krv.3_Silent_p.L150L|SEMA6A_uc003krw.3_Silent_p.L200L|SEMA6A_uc010jcj.2_Silent_p.L267L	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	723	Cytoplasmic (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGAGTGGCGTGAGGATGGCCT	0.627													A	115783233	G	A	115783233	2	1	25	1	0	0	0	0	0	0	0	1	14039	1277	45	4		4	SEMA6A	5	115783233	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2914488	115783233	65132027	364	22800											
ZNF608	57507	broad.mit.edu	37	chr5	123980122	123980122	+	Frame_Shift_Del	DEL	T	T	-													caggagtctttcgatcatcaTttttcagcttgctctcctcc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:123980121_123980121AT>A	uc003ktq.1	-	4	4122	c.3939_3939AT>T	c.(3937-3939)aatfs	p.N1313fs	ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003ktp.1_Frame_Shift_Del_p.N8fs	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	1313						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTCGATCATCATTTTTCAGCT	0.483													-	123980122	T	-	123980122	7	5	25	1	0	1	0	1	0	0	0	0	18031	1493	52	0	620	0	ZNF608	5	123980122	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	8196889	123980122	56935138	365	22801											
RAPGEF6	51735	broad.mit.edu	37	chr5	131039814	131039814	+	Frame_Shift_Del	DEL	A	A	-													ttcaaagagaggaaaatgtgAaaaaaagaattcattaaatt					rs13177318		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:131039813_131039813GA>G	uc003kvs.1	-	9	1203	c.1061_1061TC>C	c.(1060-1062)tcafs	p.S354fs	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Frame_Shift_Del_p.S326fs|RAPGEF6_uc010jdm.1_Frame_Shift_Del_p.S309fs|RAPGEF6_uc003kvu.3_Frame_Shift_Del_p.S354fs	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity	p.A354S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGGAAAATGTGAAAAAAAGAA	0.289													-	131039814	A	-	131039814	7	5	25	1	0	1	0	1	0	0	0	0	13048	246	9	0		0	RAPGEF6	5	131039814	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	7059692	131039814	49875446	366	22802											
KDM3B	51780	broad.mit.edu	37	chr5	137729043	137729043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattctactgtagcctgccGtttctttcacttccggaggt	9	11	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:137729043G>A	uc003lcy.1	+	9	3013	c.2813G>A	c.(2812-2814)CGT>CAT	p.R938H	KDM3B_uc010jew.1_Missense_Mutation_p.R594H|KDM3B_uc011cys.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	938					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						GTAGCCTGCCGTTTCTTTCAC	0.458													A	137729043	G	A	137729043	3	1	25	1	0	0	0	0	1	0	0	0	8127	1145	40	1	2847	1	KDM3B	5	137729043	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	6689229	137729043	43186217	367	22803											
HSPA9	3313	broad.mit.edu	37	chr5	137893663	137893663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaactccacgaggggctgGtggaattccaatctaaaata	11	8	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:137893663G>A	uc003ldf.2	-	13	1636	c.1528C>T	c.(1528-1530)CCA>TCA	p.P510S	HSPA9_uc003lde.2_5'Flank|HSPA9_uc011cyw.1_Intron	NM_004134	NP_004125	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 precursor	510					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CGAGGGGCTGGTGGAATTCCA	0.393													A	137893663	G	A	137893663	3	1	25	1	0	0	0	0	1	0	0	0	7417	1261	44	4	531	4	HSPA9	5	137893663	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	164620	137893663	43021597	368	22804											
DNAJC18	202052	broad.mit.edu	37	chr5	138764375	138764375	+	Splice_Site	DEL	A	A	-													tttctgcatttcttgatcctAaaaaaaatcacaagcatgta							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373													-	138764375	A	-	138764375	8	5	25	1	0	1	0	1	0	0	1	0	4637	377	13	0		0	DNAJC18	5	138764375	Splice_Site	DEL	A	TCGA-BR-4370-01A-01D-1158-08	870712	138764375	42150885	369	22805											
CXXC5	51523	broad.mit.edu	37	chr5	139061006	139061006	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaaatgtgaggaactcAaaaagaagccttccgctgct	9	9	2	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:139061006A>G	uc010jfg.1	+	2	1188	c.898A>G	c.(898-900)AAA>GAA	p.K300E	CXXC5_uc003let.2_Missense_Mutation_p.K300E	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	CXXC finger 5	300					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGAACTCAAAAAGAAGCC	0.562													G	139061006	A	G	139061006	3	3	25	1	0	0	0	0	1	0	0	0	4099	131	5	3	900	3	CXXC5	5	139061006	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	296631	139061006	41854254	370	22806											
PSD2	84249	broad.mit.edu	37	chr5	139189047	139189047	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaggacaagctcttaTctgcagtgcctgaggaaggc	15	8	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:139189047T>C	uc003leu.1	+	2	227	c.22T>C	c.(22-24)TCT>CCT	p.S8P		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	8					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGCTCTTATCTGCAGTGCC	0.627													C	139189047	T	C	139189047	3	2	25	1	0	0	0	0	1	0	0	0	12647	1435	50	3	24	3	PSD2	5	139189047	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	128041	139189047	41726213	371	22807											
WDR55	54853	broad.mit.edu	37	chr5	140048212	140048214	+	In_Frame_Del	DEL	TCT	TCT	-													tctagtgcccccatcaatagTcttctgctggtggatgagaa							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:140048211_140048213GTCT>G	uc003lgr.4	+	3	509_511	c.395_397GTCT>G	c.(394-399)agtctt>aGtt	p.L135del	WDR55_uc011czl.1_5'UTR	NM_017706	NP_060176	Q9H6Y2	WDR55_HUMAN	Homo sapiens WD repeat domain 55 (WDR55), mRNA.	135					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCATCAATAGTCTTCTGCTGGT	0.537													-	140048214	TCT	-	140048212	7	5	25	1	0	1	0	1	0	0	0	0	17304	1664	58	0	410	0	WDR55	5	140048212	In_Frame_Del	DEL	TCT	TCGA-BR-4370-01A-01D-1158-08	859165	140048212	40867048	372	22808											
HARS	3035	broad.mit.edu	37	chr5	140059380	140059380	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttagaaagatacagtgaggTcatagcgaagggacaggagc	14	5	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:140059380T>C	uc003lgv.2	-	4	471	c.389A>G	c.(388-390)GAC>GGC	p.D130G	HARS_uc003lgu.2_Missense_Mutation_p.D61G|HARS_uc011czm.1_Missense_Mutation_p.D90G|HARS_uc003lgw.2_Missense_Mutation_p.D130G|HARS_uc011czn.1_Missense_Mutation_p.D90G|HARS_uc010jfu.2_Missense_Mutation_p.D130G|HARS_uc011czo.1_Intron|HARS_uc011czp.1_Intron|HARS_uc011czq.1_Intron	NM_002109	NP_002100	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	130					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TACAGTGAGGTCATAGCGAAG	0.468													C	140059380	T	C	140059380	3	2	25	1	0	0	0	0	1	0	0	0	6959	1667	58	3	1180	3	HARS	5	140059380	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	11168	140059380	40855880	373	22809											
PCDHA7	56141	broad.mit.edu	37	chr5	140216233	140216233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattctcccagcagaggcgGcagagggtgtgctctgggga	16	10	3	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:140216233G>A	uc003lhq.2	+	1	2265	c.2265G>A	c.(2263-2265)CGG>CGA	p.R755R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.R755R	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	755	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGAGGCGGCAGAGGGTGT	0.612													A	140216233	G	A	140216233	2	1	25	1	0	0	0	0	0	0	0	1	11529	1190	42	2		2	PCDHA7	5	140216233	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	156853	140216233	40699027	374	22810											
PCDHA13	56136	broad.mit.edu	37	chr5	140262138	140262138	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggatcgaccgcgaggagctGtgtgggcggagcgcggagtg	21	9	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:140262138G>A	uc003lif.2	+	1	285	c.285G>A	c.(283-285)CTG>CTA	p.L95L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.L95L|PCDHA13_uc003lid.2_Silent_p.L95L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	95	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGGAGCTGTGTGGGCGGA	0.567													A	140262138	G	A	140262138	2	1	25	1	0	0	0	0	0	0	0	1	11523	1364	48	4		4	PCDHA13	5	140262138	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	45905	140262138	40653122	375	22811											
PCDHB4	56131	broad.mit.edu	37	chr5	140503140	140503140	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcaggtcgctggactaCgaggccctgcaggcgttcga	14	14	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:140503140C>T	uc003lip.1	+	1	1560	c.1560C>T	c.(1558-1560)TAC>TAT	p.Y520Y		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	520	Cadherin 5.|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)			CGCTGGACTACGAGGCCCTGC	0.692													T	140503140	C	T	140503140	2	4	25	1	0	0	0	0	0	0	0	1	11544	547	19	1		1	PCDHB4	5	140503140	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	241002	140503140	40412120	376	22812											
PCDHB9	56127	broad.mit.edu	37	chr5	140568769	140568769	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaatggggaggtgcgcacCgccaggctgctgagcgagcg	17	12	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:140568769C>T	uc003liw.1	+	3	1878	c.1878C>T	c.(1876-1878)ACC>ACT	p.T626T		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	626	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTGCGCACCGCCAGGCTGC	0.692													T	140568769	C	T	140568769	2	4	25	1	0	0	0	0	0	0	0	1	11549	652	23	1		1	PCDHB9	5	140568769	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	65629	140568769	40346491	377	22813											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719316	140719316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatacgctcgtgggcaccCggatactcacggtgaccgcc	12	14	1	2	rs145851665		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:140719316C>T	uc003ljk.1	+	1	963	c.778C>T	c.(778-780)CGG>TGG	p.R260W	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.R260W	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	260	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGGCACCCGGATACTCAC	0.532													T	140719316	C	T	140719316	3	4	25	1	0	0	0	0	1	0	0	0	11554	643	23	1	780	1	PCDHGA2	5	140719316	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	150547	140719316	40195944	378	22814											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720770	140720770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcactttgtgggcgtggaCggggttcgggctttcctgca	16	10	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:140720770C>T	uc003ljk.1	+	1	2417	c.2232C>T	c.(2230-2232)GAC>GAT	p.D744D	PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Silent_p.D744D|PCDHGA3_uc011dap.1_5'Flank	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	744	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGTGGACGGGGTTCGGG	0.632													T	140720770	C	T	140720770	2	4	25	1	0	0	0	0	0	0	0	1	11554	535	19	1		1	PCDHGA2	5	140720770	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1454	140720770	40194490	379	22815											
PCDHGA4	56111	broad.mit.edu	37	chr5	140735546	140735546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgttcctgtaggcactcGgctactcaccgtaaaagcca	9	13	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:140735546G>A	uc003ljq.1	+	1	779	c.779G>A	c.(778-780)CGG>CAG	p.R260Q	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.R260Q	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	260	Cadherin 3.|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)			GTAGGCACTCGGCTACTCACC	0.463													A	140735546	G	A	140735546	3	1	25	1	0	0	0	0	1	0	0	0	11556	1116	39	1	781	1	PCDHGA4	5	140735546	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	14776	140735546	40179714	380	22816											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751583	140751583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgaccagggctcgcctaCgctcagcgccaacgtgagcc	12	18	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:140751583C>T	uc003ljw.1	+	1	1622	c.1622C>T	c.(1621-1623)ACG>ATG	p.T541M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.T541M|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	541	Extracellular (Potential).|Cadherin 5.				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)			GGCTCGCCTACGCTCAGCGCC	0.692													T	140751583	C	T	140751583	3	4	25	1	0	0	0	0	1	0	0	0	11564	536	19	1	1624	1	PCDHGB3	5	140751583	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	16037	140751583	40163677	381	22817											
PCDHGA6	56109	broad.mit.edu	37	chr5	140754301	140754301	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccttactgccatggatggCggcgaccctgtccgctcaag	12	14	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:140754301C>T	uc003ljy.1	+	1	651	c.651C>T	c.(649-651)GGC>GGT	p.G217G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.G217G	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	217	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGGATGGCGGCGACCCTG	0.572													T	140754301	C	T	140754301	2	4	25	1	0	0	0	0	0	0	0	1	11558	755	27	1		1	PCDHGA6	5	140754301	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2718	140754301	40160959	382	22818											
PCDHGC5	56097	broad.mit.edu	37	chr5	140869617	140869617	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaatgccactgatccagaCgagggcaccaacggccaact	9	15	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:140869617C>T	uc003lla.1	+	1	810	c.810C>T	c.(808-810)GAC>GAT	p.D270D	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Silent_p.D270D	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	270	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATCCAGACGAGGGCACCA	0.532													T	140869617	C	T	140869617	2	4	25	1	0	0	0	0	0	0	0	1	11571	535	19	1		1	PCDHGC5	5	140869617	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	115316	140869617	40045643	383	22819											
PCDH12	51294	broad.mit.edu	37	chr5	141335044	141335044	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatctttgtgggactgcccGacttcacaaggctcacctgc	9	14	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:141335044G>A	uc003llx.2	-	1	3584	c.2373C>T	c.(2371-2373)GTC>GTT	p.V791V		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	791	Cytoplasmic (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACTGCCCGACTTCACAAG	0.622													A	141335044	G	A	141335044	2	1	25	1	0	0	0	0	0	0	0	1	11510	1045	37	1		1	PCDH12	5	141335044	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	465427	141335044	39580216	384	22820											
PPARGC1B	133522	broad.mit.edu	37	chr5	149210433	149210433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagatctaaaagtcaacGgccttgtgttaaggtatttc	8	9	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:149210433G>A	uc003lrc.2	+	4	611	c.569G>A	c.(568-570)CGG>CAG	p.R190Q	PPARGC1B_uc003lrb.1_Missense_Mutation_p.R190Q|PPARGC1B_uc003lrd.2_Intron|PPARGC1B_uc003lrf.2_Missense_Mutation_p.R169Q|PPARGC1B_uc003lre.1_Missense_Mutation_p.R169Q	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	190					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AAAAGTCAACGGCCTTGTGTT	0.557													A	149210433	G	A	149210433	3	1	25	1	0	0	0	0	1	0	0	0	12301	1116	39	1	590	1	PPARGC1B	5	149210433	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	7875389	149210433	31704827	385	22821											
GRIA1	2890	broad.mit.edu	37	chr5	153026617	153026617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgagctttcccgttgataCatccaatcagtttgtccttc	7	13	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:153026617C>T	uc003lva.3	+	3	715	c.350C>T	c.(349-351)ACA>ATA	p.T117I	GRIA1_uc003luy.3_Missense_Mutation_p.T117I|GRIA1_uc003luz.3_Missense_Mutation_p.T22I|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Intron|GRIA1_uc011dcx.1_Missense_Mutation_p.T48I|GRIA1_uc011dcy.1_Missense_Mutation_p.T127I|GRIA1_uc011dcz.1_Missense_Mutation_p.T127I|GRIA1_uc010jia.1_Missense_Mutation_p.T97I	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	117	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCCGTTGATACATCCAATCAG	0.478													T	153026617	C	T	153026617	3	4	25	1	0	0	0	0	1	0	0	0	6767	478	17	4	360	4	GRIA1	5	153026617	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3816184	153026617	27888643	386	22822											
LARP1	23367	broad.mit.edu	37	chr5	154173390	154173391	+	Frame_Shift_Ins	INS	-	-	C													gccacctacgtgcccgtggcINScccccccaccccagcctggc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:154173389_154173390G>GC	uc003lvo.3	+	5	691_692	c.667_668G>GC	c.(667-669)gccfs	p.A223fs	LARP1_uc021ygh.1_Frame_Shift_Ins_p.A95fs|LARP1_uc021ygi.1_Frame_Shift_Ins_p.A300fs|LARP1_uc010jie.1_Frame_Shift_Ins_p.A95fs	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	300							RNA binding|protein binding	p.T303fs*19(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGTGCCCGTGGCCCCCCCCACC	0.644													C	154173391	-	C	154173390	7	5	25	1	0	1	1	0	0	0	0	0	8628	739	26	0	690	0	LARP1	5	154173390	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	1146773	154173390	26741870	387	22823											
ITK	3702	broad.mit.edu	37	chr5	156672939	156672939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacaggcaccaaattcccGgtgaagtgggcatccccaga	10	14	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:156672939G>A	uc003lwo.1	+	15	1645	c.1563G>A	c.(1561-1563)CCG>CCA	p.P521P		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	521	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAAATTCCCGGTGAAGTGGG	0.557			T	SYK	peripheral T-cell lymphoma								A	156672939	G	A	156672939	2	1	25	1	0	0	0	0	0	0	0	1	7909	1103	39	1		1	ITK	5	156672939	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2499549	156672939	24242321	388	22824											
ITK	3702	broad.mit.edu	37	chr5	156673004	156673004	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagcaagtccgatgtgtggtCatttggtgagtgtcatgctg	14	7	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:156673004C>T	uc003lwo.1	+	15	1710	c.1628C>T	c.(1627-1629)TCA>TTA	p.S543L		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	543	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATGTGTGGTCATTTGGTGAG	0.532			T	SYK	peripheral T-cell lymphoma								T	156673004	C	T	156673004	3	4	25	1	0	0	0	0	1	0	0	0	7909	838	29	4	1686	4	ITK	5	156673004	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	65	156673004	24242256	389	22825											
CYFIP2	26999	broad.mit.edu	37	chr5	156816213	156816213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaaatcgccattgctcGcgagggtgacctcctgacca	10	15	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:156816213G>A	uc003lwq.2	+	31	3362	c.3224G>A	c.(3223-3225)CGC>CAC	p.R1075H	CYFIP2_uc011ddn.1_Missense_Mutation_p.R1049H|CYFIP2_uc011ddo.1_Missense_Mutation_p.R879H|CYFIP2_uc003lwr.2_Missense_Mutation_p.R1075H|CYFIP2_uc003lws.2_Missense_Mutation_p.R1075H|CYFIP2_uc003lwt.2_Missense_Mutation_p.R978H|CYFIP2_uc011ddp.1_Missense_Mutation_p.R809H|CYFIP2_uc003lwv.2_Missense_Mutation_p.R30H	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1100					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCATTGCTCGCGAGGGTGAC	0.577													A	156816213	G	A	156816213	3	1	25	1	0	0	0	0	1	0	0	0	4138	1087	38	1	3334	1	CYFIP2	5	156816213	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	143209	156816213	24099047	390	22826											
EBF1	1879	broad.mit.edu	37	chr5	158267047	158267047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagacccacctggaatctcCgcatgtcacgtgggtttccc	9	15	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:158267047C>T	uc010jip.2	-	7	928	c.626G>A	c.(625-627)CGG>CAG	p.R209Q	EBF1_uc011ddw.1_Missense_Mutation_p.R76Q|EBF1_uc011ddx.1_Missense_Mutation_p.R209Q|EBF1_uc003lxl.3_Missense_Mutation_p.R186Q	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	209					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGGAATCTCCGCATGTCACG	0.388			T	HMGA2	lipoma								T	158267047	C	T	158267047	3	4	25	1	0	0	0	0	1	0	0	0	4880	652	23	1	1189	1	EBF1	5	158267047	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1450834	158267047	22648213	391	22827											
GABRB2	2561	broad.mit.edu	37	chr5	160753482	160753482	+	Frame_Shift_Del	DEL	A	A	-													attttgtttaatatctttatAaaaaatctggaagacaaagt							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:160753481_160753481TA>T	uc003lys.1	-	9	1303	c.1085_1085TA>A	c.(1084-1086)tatfs	p.Y362fs	GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Intron|GABRB2_uc003lyt.1_Intron	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	362					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	aatatctttataaaaaatctg	0.373													-	160753482	A	-	160753482	7	5	25	1	0	1	0	1	0	0	0	0	6167	362	13	0	462	0	GABRB2	5	160753482	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	2486435	160753482	20161778	392	22828											
GABRB2	2561	broad.mit.edu	37	chr5	160838047	160838047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttaggtccatcatgcaggCagctgtggttgtgattctag	12	9	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:160838047C>T	uc003lys.1	-	6	693	c.475G>A	c.(475-477)GCC>ACC	p.A159T	GABRB2_uc011deh.1_5'UTR|GABRB2_uc003lyr.1_Missense_Mutation_p.A159T|GABRB2_uc003lyt.1_Missense_Mutation_p.A159T|GABRB2_uc010jiu.1_Missense_Mutation_p.A96T	NM_021911	NP_068711	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	159	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity				0	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATCATGCAGGCAGCTGTGGTT	0.433													T	160838047	C	T	160838047	3	4	25	1	0	0	0	0	1	0	0	0	6167	710	25	2	1087	2	GABRB2	5	160838047	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	84565	160838047	20077213	393	22829											
LCP2	3937	broad.mit.edu	37	chr5	169714973	169714973	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagttggaggagtacttaCggcacccggagcttggggaa	16	7	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:169714973C>T	uc003man.1	-	3	395	c.188_splice	c.e3+1	p.P63_splice	LCP2_uc011det.1_Splice_Site	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2						immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GGAGTACTTACGGCACCCGGA	0.522													T	169714973	C	T	169714973	5	4	25	1	0	0	0	0	0	0	1	0	8692	550	19	1	1488	1	LCP2	5	169714973	Splice_Site	SNP	C	TCGA-BR-4370-01A-01D-1158-08	8876926	169714973	11200287	394	22830											
STC2	8614	broad.mit.edu	37	chr5	172744894	172744894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agactgttcgtcttcccactCgctgcttccggaaggtccct	9	15	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:172744894C>T	uc003mco.1	-	4	2175	c.865G>A	c.(865-867)GAG>AAG	p.E289K	STC2_uc003mcn.1_Missense_Mutation_p.E204K	NM_003714	NP_003705	O76061	STC2_HUMAN	stanniocalcin 2 precursor	289					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			skin(2)|ovary(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTTCCCACTCGCTGCTTCCG	0.577													T	172744894	C	T	172744894	3	4	25	1	0	0	0	0	1	0	0	0	15275	893	31	1	47	1	STC2	5	172744894	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3029921	172744894	8170366	395	22831											
CDHR2	54825	broad.mit.edu	37	chr5	176017672	176017673	+	Frame_Shift_Ins	INS	-	-	GT													gatcatgaccatggccttcgINStgtgtgtgcggaagaggtgc					rs145867125	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:176017671_176017672C>CGT	uc021yie.1	+	27	3796_3797	c.3522_3523C>CGT	c.(3520-3525)ttcgtgfs	p.F1174fs	CDHR2_uc003mem.2_Frame_Shift_Ins_p.F1174fs|CDHR2_uc003men.1_Frame_Shift_Ins_p.F1174fs	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	1174					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	p.V1175M(2)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCATGGCCTTCGTGTGTGTGCG	0.584													GT	176017673	-	GT	176017672	7	5	25	1	0	1	1	0	0	0	0	0	3119	1145	40	0	3629	0	CDHR2	5	176017672	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	3272778	176017672	4897588	396	22832											
HK3	3101	broad.mit.edu	37	chr5	176309124	176309124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtagcaggcattggtgccGgttcctgcagagaggccaga	15	9	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:176309124G>A	uc003mfa.2	-	16	2150	c.2058C>T	c.(2056-2058)ACC>ACT	p.T686T	HK3_uc003mez.2_Silent_p.T242T	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	686	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATTGGTGCCGGTTCCTGCAG	0.597													A	176309124	G	A	176309124	2	1	25	1	0	0	0	0	0	0	0	1	7192	1103	39	1		1	HK3	5	176309124	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	291452	176309124	4606136	397	22833											
RGS14	10636	broad.mit.edu	37	chr5	176795177	176795177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgggcgggactgcaaaCgccgccttgcgccgagagtc	16	13	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:176795177C>T	uc003mgf.2	+	8	941	c.759C>T	c.(757-759)AAC>AAT	p.N253N	RGS14_uc003mgg.1_Silent_p.N100N|RGS14_uc003mgh.2_Silent_p.N100N|RGS14_uc003mgi.2_Silent_p.N23N	NM_006480	NP_006471	O43566	RGS14_HUMAN	regulator of G-protein signalling 14	253					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			lung(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACTGCAAACGCCGCCTTGC	0.647													T	176795177	C	T	176795177	2	4	25	1	0	0	0	0	0	0	0	1	13297	535	19	1		1	RGS14	5	176795177	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	486053	176795177	4120083	398	22834											
SLC34A1	6569	broad.mit.edu	37	chr5	176823997	176823997	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctacccgctcacactgggTtccaacatcggcaccaccac	7	19	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:176823997T>C	uc003mgk.3	+	12	1439	c.1338T>C	c.(1336-1338)GGT>GGC	p.G446G		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	solute carrier family 34 (sodium phosphate),	446	Extracellular (Potential).				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCACACTGGGTTCCAACATCG	0.647													C	176823997	T	C	176823997	2	2	25	1	0	0	0	0	0	0	0	1	14567	1712	60	3		3	SLC34A1	5	176823997	Silent	SNP	T	TCGA-BR-4370-01A-01D-1158-08	28820	176823997	4091263	399	22835											
NHP2	55651	broad.mit.edu	37	chr5	177580535	177580535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgaacctctttcacccCgcgccgaatctgcttctgct	6	16	5	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:177580535C>T	uc003mir.2	-	2	330	c.187G>A	c.(187-189)GGG>AGG	p.G63R	NHP2_uc003mis.2_Missense_Mutation_p.G63R	NM_017838	NP_060308	Q9NX24	NHP2_HUMAN	nucleolar protein family A, member 2 isoform a	63					rRNA pseudouridine synthesis	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding				0						TCTTTCACCCCGCGCCGAATC	0.542													T	177580535	C	T	177580535	3	4	25	1	0	0	0	0	1	0	0	0	10409	652	23	1	286	1	NHP2	5	177580535	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	756538	177580535	3334725	400	22836											
ZNF354B	117608	broad.mit.edu	37	chr5	178311021	178311021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tactggagagaaaccatatcGatgtttagaatgtgggatgt	12	4	0	2	rs115229877	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:178311021G>A	uc003mjl.2	+	5	1794	c.1568G>A	c.(1567-1569)CGA>CAA	p.R523Q	ZNF354B_uc003mjm.2_Missense_Mutation_p.R523Q	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	523	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAACCATATCGATGTTTAGAA	0.383													A	178311021	G	A	178311021	3	1	25	1	0	0	0	0	1	0	0	0	17862	1058	37	1	1582	1	ZNF354B	5	178311021	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	730486	178311021	2604239	401	22837											
MGAT1	4245	broad.mit.edu	37	chr5	180218922	180218922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcggtcataggcctcccgCtgcaggtaagacaggtccag	12	13	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:180218922C>T	uc003mmg.3	-	2	1545	c.1050G>A	c.(1048-1050)CAG>CAA	p.Q350Q	MGAT1_uc010jlf.2_Silent_p.Q350Q|MGAT1_uc010jlg.2_Silent_p.Q350Q|MGAT1_uc003mmh.3_Silent_p.Q350Q|MGAT1_uc010jlh.2_Silent_p.Q350Q|MGAT1_uc003mmi.3_Silent_p.Q350Q	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	350	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(1)	1	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCCTCCCGCTGCAGGTAAG	0.587													T	180218922	C	T	180218922	2	4	25	1	0	0	0	0	0	0	0	1	9542	796	28	2		2	MGAT1	5	180218922	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1907901	180218922	696338	402	22838											
SLC22A23	63027	broad.mit.edu	37	chr6	3273381	3273381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccgagtagtccttgagctCggcgttggtgagcagcagtg	16	10	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:3273381C>T	uc003mvm.3	-	10	1969	c.1969G>A	c.(1969-1971)GAG>AAG	p.E657K	uc003mvi.1_Intron|SLC22A23_uc003mvn.3_Missense_Mutation_p.E376K|SLC22A23_uc003mvo.3_Missense_Mutation_p.E376K|SLC22A23_uc003mvp.1_RNA	NM_015482	NP_056297	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23 isoform a	657					ion transport	integral to membrane	transmembrane transporter activity			ovary(1)	1	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				TCCTTGAGCTCGGCGTTGGTG	0.657													T	3273381	C	T	3273381	3	4	25	1	0	0	0	0	1	0	0	0	14452	893	31	1	95	1	SLC22A23	6	3273381	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08		3273381	167841686	403	22839											
RREB1	6239	broad.mit.edu	37	chr6	7231875	7231875	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcggggagtttgccagcatCgagaagatgctggccaccac	14	11	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:7231875C>T	uc003mxc.2	+	10	3933	c.3543C>T	c.(3541-3543)ATC>ATT	p.I1181I	RREB1_uc003mxb.2_Silent_p.I1181I|RREB1_uc010jnx.2_Silent_p.I1181I	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1181					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TTGCCAGCATCGAGAAGATGC	0.642													T	7231875	C	T	7231875	2	4	25	1	0	0	0	0	0	0	0	1	13679	874	31	1		1	RREB1	6	7231875	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3958494	7231875	163883192	404	22840											
DSP	1832	broad.mit.edu	37	chr6	7583008	7583008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggaggatgagctgaatcGtgcaaaatcaactctagagg	13	7	2	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:7583008G>A	uc003mxp.1	+	24	5792	c.5513G>A	c.(5512-5514)CGT>CAT	p.R1838H	DSP_uc003mxq.1_Missense_Mutation_p.R1239H	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1838	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGCTGAATCGTGCAAAATCA	0.478													A	7583008	G	A	7583008	3	1	25	1	0	0	0	0	1	0	0	0	4781	1145	40	1	5607	1	DSP	6	7583008	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	351133	7583008	163532059	405	22841											
NEDD9	4739	broad.mit.edu	37	chr6	11190803	11190803	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatccgtaacaccgccagtcGgtagtgaccagtgccattag	10	12	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:11190803G>A	uc003mzv.2	-	5	1466	c.1299C>T	c.(1297-1299)ACC>ACT	p.T433T	NEDD9_uc010joz.2_Silent_p.T433T|NEDD9_uc003mzw.3_Silent_p.T287T	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	433					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			ACCGCCAGTCGGTAGTGACCA	0.517													A	11190803	G	A	11190803	2	1	25	1	0	0	0	0	0	0	0	1	10313	1103	39	1		1	NEDD9	6	11190803	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3607795	11190803	159924264	406	22842											
PHACTR1	221692	broad.mit.edu	37	chr6	13206135	13206135	+	Frame_Shift_Del	DEL	G	G	-													gtcatgatctgtatgcccgtGggggggccagacctctcact							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:13206134_13206134TG>T	uc003nah.2	+	7	1125	c.752_752TG>T	c.(751-753)gtgfs	p.V251fs	PHACTR1_uc011dir.2_Frame_Shift_Del_p.V320fs|PHACTR1_uc010jpc.3_Frame_Shift_Del_p.V251fs|PHACTR1_uc003nag.2_Frame_Shift_Del_p.V251fs	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCA	0.597													-	13206135	G	-	13206135	7	5	25	1	0	1	0	1	0	0	0	0	11809	1335	47	0	775	0	PHACTR1	6	13206135	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	2015332	13206135	157908932	407	22843											
GFOD1	54438	broad.mit.edu	37	chr6	13365237	13365237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcatcttgatggtgccgCgcaggtagggcgaggggatg	18	8	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:13365237C>T	uc003nat.1	-	2	1576	c.911G>A	c.(910-912)CGC>CAC	p.R304H	GFOD1_uc003nas.1_Missense_Mutation_p.R201H	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain	304						extracellular region	binding|oxidoreductase activity			ovary(2)	2	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GATGGTGCCGCGCAGGTAGGG	0.697													T	13365237	C	T	13365237	3	4	25	1	0	0	0	0	1	0	0	0	6343	768	27	1	265	1	GFOD1	6	13365237	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	159102	13365237	157749830	408	22844											
ATXN1	6310	broad.mit.edu	37	chr6	16306662	16306662	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttcgtcttctgacttctcCagtttgcggctctctggcgc	11	13	4	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:16306662C>A	uc003nbt.2	-	9	3317	c.2346G>T	c.(2344-2346)CTG>CTT	p.L782L	ATXN1_uc010jpi.2_Silent_p.L782L|ATXN1_uc010jpj.1_RNA	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	782	Interaction with USP7.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CTGACTTCTCCAGTTTGCGGC	0.527													A	16306662	C	A	16306662	2	1	25	1	0	0	0	0	0	0	0	1	1209	581	21	5		5	ATXN1	6	16306662	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2941425	16306662	154808405	409	22845											
CAP2	10486	broad.mit.edu	37	chr6	17507411	17507411	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttacagaatgacgtggcCgcacttctgaaacccatatc	8	12	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:17507411C>T	uc003ncb.2	+	5	555	c.312C>T	c.(310-312)GCC>GCT	p.A104A	CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Silent_p.A78A|CAP2_uc011djb.1_Silent_p.A104A|CAP2_uc011djc.1_Intron|CAP2_uc011djd.1_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	adenylyl cyclase-associated protein 2	104					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			ovary(1)	1	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			ATGACGTGGCCGCACTTCTGA	0.473													T	17507411	C	T	17507411	2	4	25	1	0	0	0	0	0	0	0	1	2620	639	23	1		1	CAP2	6	17507411	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1200749	17507411	153607656	410	22846											
NHLRC1	378884	broad.mit.edu	37	chr6	18122675	18122675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtgcgccagggcggccaCgcaggccaggcagaccacgt	17	15	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:18122675C>T	uc003ncl.1	-	1	177	c.163G>A	c.(163-165)GTG>ATG	p.V55M		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	55	RING-type.				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			AGGGCGGCCACGCAGGCCAGG	0.706													T	18122675	C	T	18122675	3	4	25	1	0	0	0	0	1	0	0	0	10405	536	19	1	1028	1	NHLRC1	6	18122675	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	615264	18122675	152992392	411	22847											
BTN3A3	10384	broad.mit.edu	37	chr6	26448537	26448537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggaccctgcctatctcGttgctgcttctcgcaggagc	12	14	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:26448537G>A	uc003nhz.2	+	6	957	c.777G>A	c.(775-777)TCG>TCA	p.S259S	BTN3A3_uc003nia.2_Silent_p.S217S|BTN3A3_uc011dkn.1_Silent_p.S217S	NM_006994	NP_008925	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3 isoform a	259	Helical; (Potential).					integral to membrane					0						TGCCTATCTCGTTGCTGCTTC	0.562													A	26448537	G	A	26448537	2	1	25	1	0	0	0	0	0	0	0	1	1564	1132	40	1		1	BTN3A3	6	26448537	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	8325862	26448537	144666530	412	22848											
HIST1H2AG	8969	broad.mit.edu	37	chr6	27101205	27101205	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggccgtgctactgcccAaaaagactgagagccaccac	9	14	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:27101205A>C	uc003niw.2	+	1	389	c.355A>C	c.(355-357)AAA>CAA	p.K119Q	HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	119					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding				0						GCTACTGCCCAAAAAGACTGA	0.537													C	27101205	A	C	27101205	3	2	25	1	0	0	0	0	1	0	0	0	7133	131	5	5	357	5	HIST1H2AG	6	27101205	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	652668	27101205	144013862	413	22849											
ZNF165	7718	broad.mit.edu	37	chr6	28056479	28056479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagacatctgtaagtctgCaggcagggtaaagagacaat	11	7	3	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:28056479C>T	uc003nkg.2	+	5	1773	c.689C>T	c.(688-690)GCA>GTA	p.A230V	ZNF165_uc003nkh.2_Missense_Mutation_p.A230V|ZNF165_uc003nki.3_Missense_Mutation_p.A230V|ZSCAN12P1_uc003nkj.3_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	230					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TGTAAGTCTGCAGGCAGGGTA	0.403													T	28056479	C	T	28056479	3	4	25	1	0	0	0	0	1	0	0	0	17737	710	25	2	699	2	ZNF165	6	28056479	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	955274	28056479	143058588	414	22850											
PGBD1	84547	broad.mit.edu	37	chr6	28269913	28269913	+	Frame_Shift_Del	DEL	T	T	-													aagcaagaaatggtactcaaTtttggtgagctacatgattg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:28269912_28269912AT>A	uc003nky.3	+	6	2701	c.2281_2281AT>A	c.(2281-2283)attfs	p.I761fs	PGBD1_uc003nkz.3_Frame_Shift_Del_p.I761fs	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	761					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ATGGTACTCAATTTTGGTGAG	0.408													-	28269913	T	-	28269913	7	5	25	1	0	1	0	1	0	0	0	0	11780	1493	52	0	2304	0	PGBD1	6	28269913	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	213434	28269913	142845154	415	22851											
OR2J2	26707	broad.mit.edu	37	chr6	29142310	29142310	+	Frame_Shift_Del	DEL	G	G	-													tcagaaacaagcatgtaaaaGgggcagcgaagagactattg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:29142309_29142309AG>A	uc011dlm.2	+	0	999	c.897_897AG>A	c.(895-897)aaafs	p.K299fs		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AGCATGTAAAAGGGGCAGCGA	0.438													-	29142310	G	-	29142310	7	5	25	1	0	1	0	1	0	0	0	0	11003	1000	35	0	900	0	OR2J2	6	29142310	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	872397	29142310	141972757	416	22852											
GABBR1	2550	broad.mit.edu	37	chr6	29591092	29591092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctcaccgaagtgaagAcctcagtggtctgctggatg	11	13	3	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:29591092A>G	uc003nmt.3	-	8	1289	c.953T>C	c.(952-954)GTC>GCC	p.V318A	GABBR1_uc003nmp.3_Missense_Mutation_p.V201A|GABBR1_uc003nms.3_Missense_Mutation_p.V201A|GABBR1_uc003nmu.3_Missense_Mutation_p.V256A|GABBR1_uc011dlr.1_Missense_Mutation_p.V141A|GABBR1_uc011dls.1_Missense_Mutation_p.V318A	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	318	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	CGAAGTGAAGACCTCAGTGGT	0.532													G	29591092	A	G	29591092	3	3	25	1	0	0	0	0	1	0	0	0	6155	275	10	3	1996	3	GABBR1	6	29591092	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	448782	29591092	141523975	417	22853											
HLA-F	3134	broad.mit.edu	37	chr6	29694737	29694737	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggggtgctcttccaaggaTatttgggctgcctccggagt	15	9	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:29694737T>C	uc003nno.3	+	7	1238	c.1114T>C	c.(1114-1116)TAT>CAT	p.Y372H	HLA-F_uc011dlx.1_Missense_Mutation_p.Y372H|HLA-F_uc011dly.1_RNA|LOC285830_uc003nnp.2_RNA|LOC285830_uc011dlz.1_RNA	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	Error:Variant_position_missing_in_P30511_after_alignment					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						CTTCCAAGGATATTTGGGCTG	0.493													C	29694737	T	C	29694737	3	2	25	1	0	0	0	0	1	0	0	0	7211	1406	49	3	1149	3	HLA-F	6	29694737	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	103645	29694737	141420330	418	22854											
HLA-A	3105	broad.mit.edu	37	chr6	29911900	29911900	+	Splice_Site	DEL	C	C	-													ttctgactcttcccgtcagaCccccccaagacacatatgac					rs75368153		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:29911899_29911899AC>A	uc003nol.3	+	4	704	c.620_splice	c.e4-1	p.D207_splice	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_5'Flank|HLA-A_uc021ytz.1_Splice_Site_p.D207_splice|HLA-A_uc010jrq.3_Splice_Site_p.D86_splice|HLA-A_uc003nok.3_Splice_Site_p.D86_splice|HLA-A_uc010klp.2_Splice_Site_p.D179_splice|HLA-A_uc011dmc.2_Splice_Site_p.D86_splice|HLA-A_uc011dmd.2_Splice_Site_p.D86_splice|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	207	Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TTCCCGTCAGACCCCCCCAAG	0.577									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			-	29911900	C	-	29911900	8	5	25	1	0	1	0	1	0	0	1	0	7195	521	18	0	635	0	HLA-A	6	29911900	Splice_Site	DEL	C	TCGA-BR-4370-01A-01D-1158-08	217163	29911900	141203167	419	22855											
TRIM39	56658	broad.mit.edu	37	chr6	30303703	30303703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggacctggcccacttggCtgccgaggtggagggcaagt	17	12	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:30303703C>T	uc010jrz.2	+	5	1043	c.731C>T	c.(730-732)GCT>GTT	p.A244V	TRIM39_uc003npz.2_Missense_Mutation_p.A244V|TRIM39_uc003nqb.2_Missense_Mutation_p.A244V|TRIM39_uc003nqc.2_Missense_Mutation_p.A244V|TRIM39_uc010jsa.1_Missense_Mutation_p.A244V	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN	tripartite motif-containing 39 isoform 1	244	Potential.				apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding			ovary(3)	3						GCCCACTTGGCTGCCGAGGTG	0.572													T	30303703	C	T	30303703	3	4	25	1	0	0	0	0	1	0	0	0	16510	797	28	2	741	2	TRIM39	6	30303703	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	391803	30303703	140811364	420	22856											
ABCF1	23	broad.mit.edu	37	chr6	30554267	30554267	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtgtgacattcggctaCcagggacagaaaccactctt	10	11	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:30554267C>A	uc003nql.2	+	19	1997	c.1902C>A	c.(1900-1902)TAC>TAA	p.Y634*	ABCF1_uc003nqm.2_Nonsense_Mutation_p.Y596*|ABCF1_uc010jsb.2_Intron	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F, member 1	634	ABC transporter 2.				inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			ovary(2)	2						CATTCGGCTACCAGGGACAGA	0.493													A	30554267	C	A	30554267	4	1	25	1	0	0	0	0	0	1	0	0	65	518	18	5	1976	5	ABCF1	6	30554267	Nonsense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	250564	30554267	140560800	421	22857											
PPP1R10	5514	broad.mit.edu	37	chr6	30574379	30574379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcgctcaggaagggtagttCgactttttccttcatcttta	9	9	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:30574379C>T	uc003nqn.1	-	8	1052	c.500G>A	c.(499-501)CGA>CAA	p.R167Q	PPP1R10_uc010jsc.1_5'UTR	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	167	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						AAGGGTAGTTCGACTTTTTCC	0.463													T	30574379	C	T	30574379	3	4	25	1	0	0	0	0	1	0	0	0	12352	884	31	1	2374	1	PPP1R10	6	30574379	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	20112	30574379	140540688	422	22858											
AIF1	199	broad.mit.edu	37	chr6	31584597	31584597	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcccatctcaaccaggatcCtgatgtatgaggaaaaagcg	9	10	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:31584597C>A	uc003nuy.2	+	6	438	c.364C>A	c.(364-366)CTG>ATG	p.L122M	AIF1_uc010jsy.2_3'UTR|AIF1_uc003nva.2_Missense_Mutation_p.L68M	NM_001623	NP_001614	P55008	AIF1_HUMAN	allograft inflammatory factor 1 isoform 3	122					actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding			ovary(1)	1						AACCAGGATCCTGATGTATGA	0.498													A	31584597	C	A	31584597	3	1	25	1	0	0	0	0	1	0	0	0	424	680	24	5	584	5	AIF1	6	31584597	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1010218	31584597	139530470	423	22859											
DDAH2	23564	broad.mit.edu	37	chr6	31696699	31696699	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agggccgtgtccccttggatCacggccgtgtcgccaagcag	14	14	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:31696699C>A	uc003nwp.2	-	1	871	c.240G>T	c.(238-240)GTG>GTT	p.V80V	DDAH2_uc003nwq.2_Silent_p.V80V	NM_013974	NP_039268	O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	80					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding				0					L-Citrulline(DB00155)	CCCCTTGGATCACGGCCGTGT	0.652													A	31696699	C	A	31696699	2	1	25	1	0	0	0	0	0	0	0	1	4322	813	29	5		5	DDAH2	6	31696699	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	112102	31696699	139418368	424	22860											
SKIV2L	6499	broad.mit.edu	37	chr6	31931880	31931880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccttgctcgcctccgtgGctctgaccgccagctgcccc	10	20	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:31931880G>A	uc003nyn.1	+	16	2227	c.1838G>A	c.(1837-1839)GGC>GAC	p.G613D	SKIV2L_uc011dou.1_Missense_Mutation_p.G455D|SKIV2L_uc011dov.1_Missense_Mutation_p.G420D	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	613	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						CGCCTCCGTGGCTCTGACCGC	0.542													A	31931880	G	A	31931880	3	1	25	1	0	0	0	0	1	0	0	0	14359	1203	42	2	1900	2	SKIV2L	6	31931880	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	235181	31931880	139183187	425	22861											
SKIV2L	6499	broad.mit.edu	37	chr6	31934881	31934881	+	Frame_Shift_Del	DEL	G	G	-													cctgcctgaatattacagctGgggggaggaactgacagaga							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:31934880_31934880TG>T	uc003nyn.1	+	19	2829	c.2440_2440TG>T	c.(2440-2442)tggfs	p.W814fs	SKIV2L_uc011dou.1_Frame_Shift_Del_p.W656fs|SKIV2L_uc011dov.1_Frame_Shift_Del_p.W621fs	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	814						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						ATATTACAGCTGGGGGGAGGA	0.552													-	31934881	G	-	31934881	7	5	25	1	0	1	0	1	0	0	0	0	14359	1357	47	0	2519	0	SKIV2L	6	31934881	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	3001	31934881	139180186	426	22862											
DOM3Z	1797	broad.mit.edu	37	chr6	31939231	31939231	+	Frame_Shift_Del	DEL	G	G	-													ttggggcctggaccgttagtGgggggtgggctatagtagcg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:31939230_31939230TG>T	uc003nyp.1	-	1	556	c.223_223CA>A	c.(223-225)actfs	p.T75fs	DOM3Z_uc003nyq.1_Intron|DOM3Z_uc010jtl.1_Frame_Shift_Del_p.T75fs|STK19_uc003nyt.3_Intron|DOM3Z_uc003nyu.1_Frame_Shift_Del_p.T75fs|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	Homo sapiens dom-3 homolog Z (C. elegans) (DOM3Z), mRNA.	75							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						GGACCGTTAGTGGGGGGTGGG	0.622													-	31939231	G	-	31939231	7	5	25	1	0	1	0	1	0	0	0	0	4705	1335	47	0	992	0	DOM3Z	6	31939231	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	4350	31939231	139175836	427	22863											
CYP21A2	1589	broad.mit.edu	37	chr6	32008351	32008351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgccccaccgcaccacaCggcccagcaggtgactcccg	9	21	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:32008351C>T	uc003nze.1	+	8	1226	c.1108C>T	c.(1108-1110)CGG>TGG	p.R370W	CYP21A2_uc003nzf.1_Missense_Mutation_p.R340W	NM_000500	NP_000491	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A,	369			R -> W (in AH3).		glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding				0						CCGCACCACACGGCCCAGCAG	0.667													T	32008351	C	T	32008351	3	4	25	1	0	0	0	0	1	0	0	0	4153	527	19	1	2659	1	CYP21A2	6	32008351	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	69120	32008351	139106716	428	22864											
PRRT1	80863	broad.mit.edu	37	chr6	32117088	32117088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatggccgcgatgcccaCggccagggagatgaaggaga	15	12	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:32117088C>T	uc003nzt.2	-	4	948	c.832G>A	c.(832-834)GTG>ATG	p.V278M	PRRT1_uc003nzs.2_Missense_Mutation_p.V319M|PRRT1_uc003nzu.2_Missense_Mutation_p.R170H	NM_030651	NP_085154	Q99946	PRRT1_HUMAN	NG5 protein	278	Helical; (Potential).				response to biotic stimulus	integral to membrane				breast(1)	1						GCGATGCCCACGGCCAGGGAG	0.637													T	32117088	C	T	32117088	3	4	25	1	0	0	0	0	1	0	0	0	12609	536	19	1	92	1	PRRT1	6	32117088	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	108737	32117088	138997979	429	22865											
RING1	6015	broad.mit.edu	37	chr6	33178990	33178990	+	Frame_Shift_Del	DEL	G	G	-													atcagaccacaacgatgagtGggggggaaggagagcccggg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:33178989_33178989TG>T	uc003odk.3	+	4	704	c.510_510TG>T	c.(508-510)agtfs	p.S170fs	RING1_uc011dqx.1_Frame_Shift_Del_p.S170fs|RING1_uc003odl.3_Frame_Shift_Del_p.S141fs	NM_002931	NP_002922	Q06587	RING1_HUMAN	Homo sapiens ring finger protein 1 (RING1), mRNA.	170	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|cytoplasm|nuclear speck	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CAACGATGAGTGGGGGGGAAG	0.617													-	33178990	G	-	33178990	7	5	25	1	0	1	0	1	0	0	0	0	13374	1348	47	0	525	0	RING1	6	33178990	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	1061902	33178990	137936077	430	22866											
ITPR3	3710	broad.mit.edu	37	chr6	33658886	33658886	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcccaacaaccactccacaGgtcttggaggcttcctctcc	7	17	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:33658886G>T	uc011drk.1	+	52	7444	c.7225G>T	c.(7225-7227)GCC>TCC	p.A2409S	ITPR3_uc003oey.2_Missense_Mutation_p.A496S	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2409	Extracellular (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CCACTCCACAGGTCTTGGAGG	0.582													T	33658886	G	T	33658886	3	4	25	1	0	0	0	0	1	0	0	0	7922	1014	35	5	7431	5	ITPR3	6	33658886	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	479896	33658886	137456181	431	22867											
PPARD	5467	broad.mit.edu	37	chr6	35392119	35392119	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagccctttgtgatccAcgacatcgagacattgtggc	9	11	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:35392119A>T	uc003okm.2	+	7	950	c.641A>T	c.(640-642)CAC>CTC	p.H214L	PPARD_uc003okl.2_Missense_Mutation_p.H214L|PPARD_uc003okn.2_Missense_Mutation_p.H214L|PPARD_uc011dtb.1_Missense_Mutation_p.H175L|PPARD_uc011dtc.1_Missense_Mutation_p.H116L	NM_006238	NP_006229	Q03181	PPARD_HUMAN	peroxisome proliferative activated receptor,	214					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	TTTGTGATCCACGACATCGAG	0.582													T	35392119	A	T	35392119	3	4	25	1	0	0	0	0	1	0	0	0	12298	159	6	5	676	5	PPARD	6	35392119	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	1733233	35392119	135722948	432	22868											
BRPF3	27154	broad.mit.edu	37	chr6	36193095	36193095	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cggagacctggagcccttggAgctggtgtgggccaagtgcc	17	11	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:36193095A>T	uc003olv.3	+	11	3457	c.3233A>T	c.(3232-3234)GAG>GTG	p.E1078V	BRPF3_uc010jwb.2_Missense_Mutation_p.E808V|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_Intron|BRPF3_uc011dtk.1_Missense_Mutation_p.E744V|BRPF3_uc010jwd.2_5'UTR	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1078	PWWP.				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GAGCCCTTGGAGCTGGTGTGG	0.657													T	36193095	A	T	36193095	3	4	25	1	0	0	0	0	1	0	0	0	1521	304	11	5	3271	5	BRPF3	6	36193095	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	800976	36193095	134921972	433	22869											
MDGA1	266727	broad.mit.edu	37	chr6	37619886	37619886	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccatagtcactgaagtgcaGgtcaatgagctctaggctgc	12	10	3	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:37619886G>T	uc003onu.1	-	7	2392	c.1213C>A	c.(1213-1215)CTG>ATG	p.L405M	MDGA1_uc003onw.3_RNA	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	405	Ig-like 4.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						CTGAAGTGCAGGTCAATGAGC	0.597													T	37619886	G	T	37619886	3	4	25	1	0	0	0	0	1	0	0	0	9406	991	35	5	1698	5	MDGA1	6	37619886	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1426791	37619886	133495181	434	22870											
KCNK17	89822	broad.mit.edu	37	chr6	39272281	39272281	+	Frame_Shift_Del	DEL	C	C	-													gccccctcacctgccaggtgCcccccagcctgctggcccag							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:39272280_39272280GC>G	uc003ooo.3	-	2	645	c.504_504GC>C	c.(502-504)ggcfs	p.G168fs	KCNK17_uc003oop.3_Frame_Shift_Del_p.G168fs	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	Homo sapiens potassium channel, subfamily K, member 17 (KCNK17), transcript variant 1, mRNA.	168						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						CCTGCCAGGTGCCCCCCAGCC	0.607													-	39272281	C	-	39272281	7	5	25	1	0	1	0	1	0	0	0	0	8064	739	26	0	639	0	KCNK17	6	39272281	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	1652395	39272281	131842786	435	22871											
FOXP4	116113	broad.mit.edu	37	chr6	41562617	41562617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacccacagaacgccgtgCgccacaacctcagcctgcac	8	19	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:41562617C>T	uc003oql.2	+	14	2004	c.1546C>T	c.(1546-1548)CGC>TGC	p.R516C	FOXP4_uc003oqm.2_Missense_Mutation_p.R514C|FOXP4_uc003oqn.2_Missense_Mutation_p.R503C	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	forkhead box P4 isoform 1	516	Fork-head.				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					GAACGCCGTGCGCCACAACCT	0.607											OREG0004067	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	41562617	C	T	41562617	3	4	25	1	0	0	0	0	1	0	0	0	6029	768	27	1	1596	1	FOXP4	6	41562617	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2290336	41562617	129552450	436	22872											
PRICKLE4	29964	broad.mit.edu	37	chr6	41751963	41751963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctgcagcaactccctcCgcaggacattgatgtgggtc	10	15	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:41751963C>T	uc011duf.1	+	4	475	c.227C>T	c.(226-228)CCG>CTG	p.P76L	PRICKLE4_uc003ord.2_RNA|TOMM6_uc003org.2_5'Flank	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	over-expressed breast tumor protein	36	PET.					nucleus	zinc ion binding				0	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAACTCCCTCCGCAGGACATT	0.488													T	41751963	C	T	41751963	3	4	25	1	0	0	0	0	1	0	0	0	12489	652	23	1	233	1	PRICKLE4	6	41751963	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	189346	41751963	129363104	437	22873											
CUL9	23113	broad.mit.edu	37	chr6	43163940	43163940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgactcagccacacgccCgggctctgagagcctgctcc	10	18	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:43163940C>T	uc003ouk.2	+	10	2597	c.2522C>T	c.(2521-2523)CCG>CTG	p.P841L	CUL9_uc003oul.2_Missense_Mutation_p.P841L|CUL9_uc010jyk.2_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	841					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GCCACACGCCCGGGCTCTGAG	0.552													T	43163940	C	T	43163940	3	4	25	1	0	0	0	0	1	0	0	0	4061	652	23	1	2556	1	CUL9	6	43163940	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1411977	43163940	127951127	438	22874											
TTBK1	84630	broad.mit.edu	37	chr6	43230733	43230733	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcgacagcaaagagtgggTcatcatcgacaaggagacgg	13	8	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:43230733T>C	uc003ouq.1	+	13	1910	c.1631T>C	c.(1630-1632)GTC>GCC	p.V544A	TTBK1_uc011dvg.1_Missense_Mutation_p.V67A	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	544						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AAAGAGTGGGTCATCATCGAC	0.642													C	43230733	T	C	43230733	3	2	25	1	0	0	0	0	1	0	0	0	16673	1667	58	3	1677	3	TTBK1	6	43230733	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	66793	43230733	127884334	439	22875											
SLC22A7	10864	broad.mit.edu	37	chr6	43270090	43270090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacgcaggacgccgcctcaCgcaagctgggacactgctgg	13	15	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:43270090C>T	uc003out.2	+	8	1313	c.1214C>T	c.(1213-1215)ACG>ATG	p.T405M	SLC22A7_uc010jyl.1_Missense_Mutation_p.T406M|SLC22A7_uc003ous.2_Missense_Mutation_p.T403M	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	solute carrier family 22 member 7 isoform b	405	Helical; (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity				0			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CGCCGCCTCACGCAAGCTGGG	0.637													T	43270090	C	T	43270090	3	4	25	1	0	0	0	0	1	0	0	0	14459	536	19	1	1240	1	SLC22A7	6	43270090	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	39357	43270090	127844977	440	22876											
TFAP2B	7021	broad.mit.edu	37	chr6	50810964	50810964	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccggccatttgcgccgcgctCacggccctgcagaactatct	10	17	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:50810964C>T	uc003pag.2	+	7	1408	c.1242C>T	c.(1240-1242)CTC>CTT	p.L414L		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	414				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					GCGCCGCGCTCACGGCCCTGC	0.637													T	50810964	C	T	50810964	2	4	25	1	0	0	0	0	0	0	0	1	15785	813	29	4		4	TFAP2B	6	50810964	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	7540874	50810964	120304103	441	22877											
BMP5	653	broad.mit.edu	37	chr6	55625309	55625309	+	Frame_Shift_Del	DEL	T	T	-													tcgtgcttcttacaggcttgTttttgctcacttgtgttata							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:55625308_55625308GT>G	uc003pcq.3	-	4	1763	c.1051_1051AC>C	c.(1051-1053)caafs	p.Q351fs	BMP5_uc011dxf.2_Frame_Shift_Del_p.Q351fs	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	351					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTACAGGCTTGTTTTTGCTCA	0.363													-	55625309	T	-	55625309	7	5	25	1	0	1	0	1	0	0	0	0	1463	1722	60	0	326	0	BMP5	6	55625309	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	4814345	55625309	115489758	442	22878											
DST	667	broad.mit.edu	37	chr6	56505005	56505005	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tattgatttcttcttctgttAaattttgatccagcaaagaa	5	6	3	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:56505005A>C	uc003pdf.2	-	17	2355	c.2327T>G	c.(2326-2328)TTA>TGA	p.L776*	DST_uc003pcz.3_Nonsense_Mutation_p.L598*|DST_uc011dxj.1_Nonsense_Mutation_p.L627*|DST_uc011dxk.1_Nonsense_Mutation_p.L638*|DST_uc011dxl.1_Nonsense_Mutation_p.L627*|DST_uc003pcy.3_Nonsense_Mutation_p.L272*|DST_uc003pdb.2_Nonsense_Mutation_p.L272*|DST_uc003pdc.3_Nonsense_Mutation_p.L272*|DST_uc003pdd.3_Nonsense_Mutation_p.L272*|DST_uc003pde.2_Nonsense_Mutation_p.L714*	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	598					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)			TTCTTCTGTTAAATTTTGATC	0.348													C	56505005	A	C	56505005	4	2	25	1	0	0	0	0	0	1	0	0	4783	372	13	5	19664	5	DST	6	56505005	Nonsense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	879696	56505005	114610062	443	22879											
EYS	346007	broad.mit.edu	37	chr6	66054021	66054021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcagtgcagtttgcagcCagaaagaaataggcatcaat	9	8	3	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:66054021C>T	uc011dxu.1	-	10	2047	c.1509G>A	c.(1507-1509)CTG>CTA	p.L503L	EYS_uc003peq.2_Silent_p.L503L|EYS_uc003per.1_Silent_p.L503L	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	503					response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						AGTTTGCAGCCAGAAAGAAAT	0.353													T	66054021	C	T	66054021	2	4	25	1	0	0	0	0	0	0	0	1	5332	581	21	4		4	EYS	6	66054021	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	9549016	66054021	105061046	444	22880											
CD109	135228	broad.mit.edu	37	chr6	74497026	74497026	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaatgaaataaatgccacaGgccaccagcagacccttctg	7	13	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:74497026G>T	uc003php.2	+	21	2832	c.2407G>T	c.(2407-2409)GGC>TGC	p.G803C	CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.G803C|CD109_uc010kba.2_Missense_Mutation_p.G726C	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	803				G -> S (in Ref. 2; AAN78483).		anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						AAATGCCACAGGCCACCAGCA	0.398													T	74497026	G	T	74497026	3	4	25	1	0	0	0	0	1	0	0	0	2963	1000	35	5	2489	5	CD109	6	74497026	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	8443005	74497026	96618041	445	22881											
IBTK	25998	broad.mit.edu	37	chr6	82891683	82891683	+	Frame_Shift_Del	DEL	T	T	-													aactatggctagtaacagacTttttttcttctagtaagaaa							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:82891682_82891682CT>C	uc003pjl.1	-	25	4166	c.3639_3639AG>G	c.(3637-3639)aagfs	p.K1213fs	IBTK_uc011dyu.1_Frame_Shift_Del_p.K164fs|IBTK_uc011dyv.1_Frame_Shift_Del_p.K1198fs|IBTK_uc011dyw.1_Frame_Shift_Del_p.K1012fs|IBTK_uc010kbi.1_Frame_Shift_Del_p.K907fs	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	1213					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TAGTAACAGACTTTTTTTCTT	0.348													-	82891683	T	-	82891683	7	5	25	1	0	1	0	1	0	0	0	0	7476	1609	56	0	439	0	IBTK	6	82891683	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	8394657	82891683	88223384	446	22882											
C6orf168	84553	broad.mit.edu	37	chr6	99729068	99729068	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgttcgtggtctgtatagTcatccatgtccacatccgaa	8	11	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:99729068T>G	uc003ppj.3	-	6	1485	c.1202A>C	c.(1201-1203)GAC>GCC	p.D401A	C6orf168_uc003ppi.3_Missense_Mutation_p.D121A	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	hypothetical protein LOC84553	401										ovary(2)|central_nervous_system(1)	3		all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.073)		GTCTGTATAGTCATCCATGTC	0.502													G	99729068	T	G	99729068	3	3	25	1	0	0	0	0	1	0	0	0	2343	1667	58	5	31	5	C6orf168	6	99729068	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	16837385	99729068	71385999	447	22883											
MCHR2	84539	broad.mit.edu	37	chr6	100390836	100390836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaacttaccagagtacatcGtcaggggatgtcaaatcaaa	8	9	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:100390836G>A	uc003pqh.1	-	4	891	c.576C>T	c.(574-576)GAC>GAT	p.D192D	MCHR2_uc003pqi.1_Silent_p.D192D	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	192	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGAGTACATCGTCAGGGGATG	0.413													A	100390836	G	A	100390836	2	1	25	1	0	0	0	0	0	0	0	1	9383	1136	40	1		1	MCHR2	6	100390836	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	661768	100390836	70724231	448	22884											
AIM1	202	broad.mit.edu	37	chr6	106968459	106968461	+	In_Frame_Del	DEL	AAG	AAG	-													tttgtatgcccatgaaaagaAagaaggccaggatgccaaac					rs139190201		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:106968458_106968460AAAG>A	uc003prh.3	+	1	3063_3065	c.2151_2153AAAG>A	c.(2149-2154)agaaag>agAg	p.K719del		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	719							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CCATGAAAAGAAAGAAGGCCAGG	0.394													-	106968461	AAG	-	106968459	7	5	25	1	0	1	0	1	0	0	0	0	430	15	1	0	2158	0	AIM1	6	106968459	In_Frame_Del	DEL	AAG	TCGA-BR-4370-01A-01D-1158-08	6577623	106968459	64146608	449	22885											
FOXO3	2309	broad.mit.edu	37	chr6	108882671	108882671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcggcggcgggagcggcaCgctgggctccgggctgctcc	20	15	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:108882671C>T	uc003psk.2	+	2	576	c.260C>T	c.(259-261)ACG>ATG	p.T87M	FOXO3_uc003psn.2_Missense_Mutation_p.T87M|FOXO3_uc003psm.2_Missense_Mutation_p.T87M	NM_201559	NP_963853	O43524	FOXO3_HUMAN	forkhead box O3A	87					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(4)|lung(2)	6		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GGGAGCGGCACGCTGGGCTCC	0.761													T	108882671	C	T	108882671	3	4	25	1	0	0	0	0	1	0	0	0	6024	536	19	1	262	1	FOXO3	6	108882671	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1914212	108882671	62232396	450	22886											
SLC22A16	85413	broad.mit.edu	37	chr6	110763711	110763711	+	Frame_Shift_Del	DEL	T	T	-													cttggccatgatgtcaactaTtttttgtgcttcttcatatc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:110763710_110763710AT>A	uc003puf.3	-	3	987	c.920_920AT>T	c.(919-921)atafs	p.I307fs	SLC22A16_uc003pue.3_Frame_Shift_Del_p.I288fs	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	307					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GATGTCAACTATTTTTTGTGC	0.473													-	110763711	T	-	110763711	7	5	25	1	0	1	0	1	0	0	0	0	14447	1493	52	0	834	0	SLC22A16	6	110763711	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	1881040	110763711	60351356	451	22887											
LAMA4	3910	broad.mit.edu	37	chr6	112430676	112430676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttgatgcttacggcgccGctgaccagggctgctttact	13	11	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:112430676G>A	uc003pvu.2	-	39	5745	c.5436C>T	c.(5434-5436)AGC>AGT	p.S1812S	LAMA4_uc003pvv.2_Silent_p.S1805S|LAMA4_uc003pvt.2_Silent_p.S1805S	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1812	Laminin G-like 5.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTACGGCGCCGCTGACCAGGG	0.532													A	112430676	G	A	112430676	2	1	25	1	0	0	0	0	0	0	0	1	8608	1078	38	1		1	LAMA4	6	112430676	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1666965	112430676	58684391	452	22888											
LAMA4	3910	broad.mit.edu	37	chr6	112450166	112450166	+	Frame_Shift_Del	DEL	T	T	-													ggcttggataaattttttccTtttttatggaggagaaacaa							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:112450165_112450165CT>C	uc003pvu.2	-	30	4555	c.4246_4246AG>G	c.(4246-4248)ggafs	p.G1416fs	LAMA4_uc003pvv.2_Frame_Shift_Del_p.G1409fs|LAMA4_uc003pvt.2_Frame_Shift_Del_p.G1409fs	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	1416					cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AAATTTTTTCCTTTTTTATGG	0.373													-	112450166	T	-	112450166	7	5	25	1	0	1	0	1	0	0	0	0	8608	1606	56	0	1262	0	LAMA4	6	112450166	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	19490	112450166	58664901	453	22889											
GPRC6A	222545	broad.mit.edu	37	chr6	117113654	117113654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaataatctccacagctGgtacatatttgccaaatgtg	7	9	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:117113654G>A	uc003pxj.1	-	6	2454	c.2432C>T	c.(2431-2433)CCA>CTA	p.P811L	GPRC6A_uc003pxk.1_Missense_Mutation_p.P636L|GPRC6A_uc003pxl.1_Missense_Mutation_p.P740L	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	811	Helical; Name=7; (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTCCACAGCTGGTACATATTT	0.343													A	117113654	G	A	117113654	3	1	25	1	0	0	0	0	1	0	0	0	6728	1348	47	4	352	4	GPRC6A	6	117113654	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	4663488	117113654	54001413	454	22890											
MOXD1	26002	broad.mit.edu	37	chr6	132618385	132618385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagggaagaggaagaagaCgtgccacacaccaaaggttc	13	9	0	3	rs146840521	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:132618385C>T	uc003qdf.2	-	12	1848	c.1749G>A	c.(1747-1749)ACG>ACA	p.T583T	MOXD1_uc003qde.2_Silent_p.T515T	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	583	Lumenal (Potential).				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		AGGAAGAAGACGTGCCACACA	0.438													T	132618385	C	T	132618385	2	4	25	1	0	0	0	0	0	0	0	1	9720	523	19	1		1	MOXD1	6	132618385	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	15504731	132618385	38496682	455	22891											
HECA	51696	broad.mit.edu	37	chr6	139488244	139488244	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataagctgaacactttccaCgtgcgcatggaagacgatgc	10	11	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:139488244C>T	uc003qin.2	+	2	1380	c.1095C>T	c.(1093-1095)CAC>CAT	p.H365H		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	365					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		ACACTTTCCACGTGCGCATGG	0.597													T	139488244	C	T	139488244	2	4	25	1	0	0	0	0	0	0	0	1	7038	535	19	1		1	HECA	6	139488244	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	6869859	139488244	31626823	456	22892											
UTRN	7402	broad.mit.edu	37	chr6	144759980	144759980	+	Frame_Shift_Del	DEL	C	C	-													attcagaagatggaaacttgCcccctggatgatgatgtaaa							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:144759979_144759979GC>G	uc003qkt.3	+	10	1432	c.1340_1340GC>G	c.(1339-1341)tgcfs	p.C447fs	UTRN_uc010khq.1_Frame_Shift_Del_p.C447fs	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	447	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATGGAAACTTGCCCCCTGGAT	0.438													-	144759980	C	-	144759980	7	5	25	1	0	1	0	1	0	0	0	0	17100	747	26	0	1383	0	UTRN	6	144759980	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	5271736	144759980	26355087	457	22893											
UTRN	7402	broad.mit.edu	37	chr6	144898290	144898290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaggacggtgcaggcctctCgcagagatctggaaaacttc	14	10	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:144898290C>T	uc003qkt.2	+	50	7437	c.7345C>T	c.(7345-7347)CGC>TGC	p.R2449C		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2449	Spectrin 17.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCAGGCCTCTCGCAGAGATCT	0.498													T	144898290	C	T	144898290	3	4	25	1	0	0	0	0	1	0	0	0	17100	884	31	1	7543	1	UTRN	6	144898290	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	138310	144898290	26216777	458	22894											
UST	10090	broad.mit.edu	37	chr6	149395142	149395142	+	Frame_Shift_Del	DEL	C	C	-													ttaagtctcacgtcagcaagCcccccctgaggccacacttc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:149395141_149395141GC>G	uc003qmg.3	+	7	1406	c.1110_1110GC>G	c.(1108-1110)aagfs	p.K370fs		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	Homo sapiens uronyl-2-sulfotransferase (UST), mRNA.	370					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACGTCAGCAAGCCCCCCCTGA	0.493													-	149395142	C	-	149395142	7	5	25	1	0	1	0	1	0	0	0	0	17090	739	26	0	1141	0	UST	6	149395142	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	4496852	149395142	21719925	459	22895											
PLEKHG1	57480	broad.mit.edu	37	chr6	151152273	151152273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaactaatggttgctaagCgggaagaagctgaatccact	10	7	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:151152273C>T	uc003qny.1	+	16	2338	c.2026C>T	c.(2026-2028)CGG>TGG	p.R676W	PLEKHG1_uc011eel.1_Missense_Mutation_p.R716W|PLEKHG1_uc011eem.1_Missense_Mutation_p.R735W|PLEKHG1_uc003qnz.2_Missense_Mutation_p.R676W	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	676					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GGTTGCTAAGCGGGAAGAAGC	0.478													T	151152273	C	T	151152273	3	4	25	1	0	0	0	0	1	0	0	0	12068	759	27	1	2080	1	PLEKHG1	6	151152273	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1757131	151152273	19962794	460	22896											
CLDN20	49861	broad.mit.edu	37	chr6	155597113	155597113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagccaccatggtcctggCgtgtgttctgtctgctttgg	14	10	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:155597113C>T	uc003qql.1	+	2	640	c.260C>T	c.(259-261)GCG>GTG	p.A87V	TFB1M_uc003qqj.3_Intron|TFB1M_uc003qqk.2_Intron	NM_001001346	NP_001001346	P56880	CLD20_HUMAN	claudin 20	87	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		ATGGTCCTGGCGTGTGTTCTG	0.542													T	155597113	C	T	155597113	3	4	25	1	0	0	0	0	1	0	0	0	3482	768	27	1	262	1	CLDN20	6	155597113	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	4444840	155597113	15517954	461	22897											
ARID1B	57492	broad.mit.edu	37	chr6	157528284	157528284	+	Frame_Shift_Del	DEL	G	G	-													aaagaggaggatgaggacaaGggggtggcctgcagcaaaga							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:157528283_157528283AG>A	uc003qqp.3	+	18	5969	c.5969_5969AG>A	c.(5968-5970)aagfs	p.K1990fs	ARID1B_uc003qqo.3_Frame_Shift_Del_p.K2003fs|ARID1B_uc003qqn.3_Frame_Shift_Del_p.K2043fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1990					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GATGAGGACAAGGGGGTGGCC	0.567													-	157528284	G	-	157528284	7	5	25	1	0	1	0	1	0	0	0	0	914	991	35	0	6087	0	ARID1B	6	157528284	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	1931171	157528284	13586783	462	22898											
ZDHHC14	79683	broad.mit.edu	37	chr6	158066823	158066823	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtccatcgttggcctctcAggattccacacctacttgat	8	13	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:158066823A>G	uc003qqt.2	+	6	1304	c.807A>G	c.(805-807)TCA>TCG	p.S269S	ZDHHC14_uc003qqs.2_Silent_p.S269S|ZDHHC14_uc010kjn.2_5'UTR	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14 isoform 1	269	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|skin(1)	2		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		TTGGCCTCTCAGGATTCCACA	0.557													G	158066823	A	G	158066823	2	3	25	1	0	0	0	0	0	0	0	1	17601	175	7	3		3	ZDHHC14	6	158066823	Silent	SNP	A	TCGA-BR-4370-01A-01D-1158-08	538539	158066823	13048244	463	22899											
FNDC1	84624	broad.mit.edu	37	chr6	159653470	159653470	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccagcttgaatgacaaCgacttggtggactcagacga	11	11	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:159653470C>T	uc010kjv.2	+	11	2126	c.1926C>T	c.(1924-1926)AAC>AAT	p.N642N	FNDC1_uc010kjw.1_Silent_p.N527N	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	642						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGAATGACAACGACTTGGTGG	0.701													T	159653470	C	T	159653470	2	4	25	1	0	0	0	0	0	0	0	1	5968	535	19	1		1	FNDC1	6	159653470	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1586647	159653470	11461597	464	22900											
MRPL18	29074	broad.mit.edu	37	chr6	160219129	160219129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaggtggtgtggttctaCgggaacctcagagaatctat	13	7	3	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:160219129C>T	uc003qsw.3	+	4	645	c.517C>T	c.(517-519)CGG>TGG	p.R173W	MRPL18_uc010kkb.2_RNA|PNLDC1_uc003qsx.1_5'Flank|PNLDC1_uc003qsy.1_5'Flank	NM_014161	NP_054880	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18 precursor	173					rRNA transport|translation	mitochondrial ribosome	5S rRNA binding|structural constituent of ribosome				0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		TGTGGTTCTACGGGAACCTCA	0.383													T	160219129	C	T	160219129	3	4	25	1	0	0	0	0	1	0	0	0	9783	527	19	1	531	1	MRPL18	6	160219129	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	565659	160219129	10895938	465	22901											
PARK2	5071	broad.mit.edu	37	chr6	161771140	161771140	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccgccctggctacacgtcGaaccagtggtcccccatgca	11	17	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:161771140G>A	uc003qtx.3	-	12	1523	c.1389C>T	c.(1387-1389)TTC>TTT	p.F463F	PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Silent_p.F272F|PARK2_uc003qtw.3_3'UTR|PARK2_uc003qty.3_Silent_p.F435F|PARK2_uc003qtz.3_Silent_p.F314F|PARK2_uc011egf.1_Silent_p.F137F	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	463					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GCTACACGTCGAACCAGTGGT	0.572													A	161771140	G	A	161771140	2	1	25	1	0	0	0	0	0	0	0	1	11449	1049	37	1		1	PARK2	6	161771140	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1552011	161771140	9343927	466	22902											
C6orf118	168090	broad.mit.edu	37	chr6	165706906	165706906	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcacacagacacctgcctgaTcgttcctttgcagactgcag	8	14	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:165706906T>A	uc003qum.3	-	6	1152	c.1116A>T	c.(1114-1116)CGA>CGT	p.R372R	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	372	Potential.										0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		ACCTGCCTGATCGTTCCTTTG	0.463													A	165706906	T	A	165706906	2	1	25	1	0	0	0	0	0	0	0	1	2323	1422	50	5		5	C6orf118	6	165706906	Silent	SNP	T	TCGA-BR-4370-01A-01D-1158-08	3935766	165706906	5408161	467	22903											
C6orf118	168090	broad.mit.edu	37	chr6	165715084	165715084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctttctctcgtggcccgCggccgccttgctcccagtga	11	17	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:165715084C>T	uc003qum.3	-	2	763	c.727G>A	c.(727-729)GCG>ACG	p.A243T	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	243											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCGTGGCCCGCGGCCGCCTTG	0.607													T	165715084	C	T	165715084	3	4	25	1	0	0	0	0	1	0	0	0	2323	768	27	1	714	1	C6orf118	6	165715084	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	8178	165715084	5399983	468	22904											
UNC93A	54346	broad.mit.edu	37	chr6	167709603	167709603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacatacctcacgatcaCgggaaacacacatgcagaga	9	12	2	1	rs34631973	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:167709603C>T	uc003qvq.2	+	3	528	c.353C>T	c.(352-354)ACG>ATG	p.T118M	UNC93A_uc003qvr.2_Missense_Mutation_p.T118M	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	118						integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTCACGATCACGGGAAACACA	0.542													T	167709603	C	T	167709603	3	4	25	1	0	0	0	0	1	0	0	0	16993	536	19	1	363	1	UNC93A	6	167709603	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1994519	167709603	3405464	469	22905											
KIF25	3834	broad.mit.edu	37	chr6	168443281	168443281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggccctgagggagatggcGtgcatcagccgcagccttgc	15	12	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:168443281G>A	uc003qwk.1	+	8	1132	c.870G>A	c.(868-870)GCG>GCA	p.A290A	KIF25_uc003qwl.1_Intron	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	kinesin family member 25 isoform 1	290	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(1)|pancreas(1)	2		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGGAGATGGCGTGCATCAGCC	0.647													A	168443281	G	A	168443281	2	1	25	1	0	0	0	0	0	0	0	1	8293	1132	40	1		1	KIF25	6	168443281	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	733678	168443281	2671786	470	22906											
DLL1	28514	broad.mit.edu	37	chr6	170592774	170592774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctctagcttctcagtgagGtccaccaccgctgggcccgg	11	17	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:170592774G>A	uc003qxm.2	-	9	2063	c.1593C>T	c.(1591-1593)GAC>GAT	p.D531D		NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	531	Extracellular (Potential).				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TCTCAGTGAGGTCCACCACCG	0.697													A	170592774	G	A	170592774	2	1	25	1	0	0	0	0	0	0	0	1	4566	1252	44	4		4	DLL1	6	170592774	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2149493	170592774	522293	471	22907											
GPER	2852	broad.mit.edu	37	chr7	1131745	1131745	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcggtactacgacatcgcCgtcctgtgcaccttcatgtc	10	14	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:1131745C>T	uc010ksd.1	+	2	770	c.381C>T	c.(379-381)GCC>GCT	p.A127A	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Silent_p.A127A|GPER_uc003ska.1_Silent_p.A127A|GPER_uc003skb.2_Silent_p.A127A	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	127	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		ACGACATCGCCGTCCTGTGCA	0.587													T	1131745	C	T	1131745	2	4	25	1	0	0	0	0	0	0	0	1	6607	639	23	1		1	GPER	7	1131745	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08		1131745	158006918	472	22908											
SNX8	29886	broad.mit.edu	37	chr7	2317940	2317940	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggcctggggtgtcggcagaTctgcaggggagatggtgaat	19	6	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:2317940T>A	uc003slw.2	-	2	138	c.95A>T	c.(94-96)GAT>GTT	p.D32V		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	32					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		TGTCGGCAGATCTGCAGGGGA	0.488													A	2317940	T	A	2317940	3	1	25	1	0	0	0	0	1	0	0	0	14908	1449	50	5	1342	5	SNX8	7	2317940	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	1186195	2317940	156820723	473	22909											
CHST12	55501	broad.mit.edu	37	chr7	2472943	2472943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaagttctggcgccgctaCgggaagctctcccgccacct	10	16	2	0	rs148723150		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:2472943C>T	uc003smc.2	+	2	804	c.669C>T	c.(667-669)TAC>TAT	p.Y223Y	CHST12_uc003smd.2_Silent_p.Y223Y	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN	carbohydrate sulfotransferase 12	223	Lumenal (Potential).				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			kidney(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GGCGCCGCTACGGGAAGCTCT	0.652													T	2472943	C	T	2472943	2	4	25	1	0	0	0	0	0	0	0	1	3400	547	19	1		1	CHST12	7	2472943	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	155003	2472943	156665720	474	22910											
C7orf27	221927	broad.mit.edu	37	chr7	2580614	2580614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctatccccaccaccgtaccGtggggctggagccggggctc	13	16	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:2580614G>A	uc003smi.2	-	10	1436	c.1394C>T	c.(1393-1395)ACG>ATG	p.T465M	C7orf27_uc003smh.3_Translation_Start_Site	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	465					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		CCACCGTACCGTGGGGCTGGA	0.677													A	2580614	G	A	2580614	3	1	25	1	0	0	0	0	1	0	0	0	2382	1159	40	1	1091	1	C7orf27	7	2580614	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	107671	2580614	156558049	475	22911											
IQCE	23288	broad.mit.edu	37	chr7	2632682	2632682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaagcagctcctgcaggCgaaggccgacctggagaagg	17	10	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:2632682C>T	uc003smo.3	+	15	1455	c.1271C>T	c.(1270-1272)GCG>GTG	p.A424V	IQCE_uc010ksm.1_Missense_Mutation_p.A424V|IQCE_uc003sml.1_Missense_Mutation_p.A424V|IQCE_uc011jvy.1_Missense_Mutation_p.A408V|IQCE_uc011jvz.1_Missense_Mutation_p.A359V|IQCE_uc003smk.3_Missense_Mutation_p.A408V|IQCE_uc003smn.3_Missense_Mutation_p.A359V	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	IQ motif containing E isoform 1	424	Potential.										0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CTCCTGCAGGCGAAGGCCGAC	0.383													T	2632682	C	T	2632682	3	4	25	1	0	0	0	0	1	0	0	0	7806	768	27	1	1329	1	IQCE	7	2632682	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	52068	2632682	156505981	476	22912											
RADIL	55698	broad.mit.edu	37	chr7	4841602	4841602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcggggcctccaggtgccCgtcaaggaccacgtggtgca	15	14	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:4841602C>T	uc003snj.1	-	12	2697	c.2524G>A	c.(2524-2526)GGG>AGG	p.G842R	RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Missense_Mutation_p.G347R|RADIL_uc011jwc.1_Missense_Mutation_p.G602R|RADIL_uc011jwd.1_RNA|RADIL_uc003snh.1_Missense_Mutation_p.G138R	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	842					cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TCCAGGTGCCCGTCAAGGACC	0.687													T	4841602	C	T	4841602	3	4	25	1	0	0	0	0	1	0	0	0	12997	652	23	1	719	1	RADIL	7	4841602	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2208920	4841602	154297061	477	22913											
PAPOLB	56903	broad.mit.edu	37	chr7	4901260	4901260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccaaaactaaaatcctgCgctgcagttcctcttcctct	4	14	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:4901260C>T	uc003snk.2	-	1	366	c.182G>A	c.(181-183)CGC>CAC	p.R61H	RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	60					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TAAAATCCTGCGCTGCAGTTC	0.473													T	4901260	C	T	4901260	3	4	25	1	0	0	0	0	1	0	0	0	11430	768	27	1	1735	1	PAPOLB	7	4901260	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	59658	4901260	154237403	478	22914											
MMD2	221938	broad.mit.edu	37	chr7	4949602	4949602	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcaggaagacaagccgtGccggccttaggacatgcctc	13	13	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:4949602G>A	uc003sno.3	-	6	715	c.519C>T	c.(517-519)GGC>GGT	p.G173G	MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Intron|MMD2_uc010ksq.2_Intron	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	monocyte to macrophage	173	Cytoplasmic (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		GACAAGCCGTGCCGGCCTTAG	0.567													A	4949602	G	A	4949602	2	1	25	1	0	0	0	0	0	0	0	1	9644	1306	46	2		2	MMD2	7	4949602	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	48342	4949602	154189061	479	22915											
SLC29A4	222962	broad.mit.edu	37	chr7	5327554	5327554	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtcaccagctggaggaggCggcggaggcggctcagggcc	19	12	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:5327554C>A	uc003sod.2	+	2	268	c.107C>A	c.(106-108)GCG>GAG	p.A36E	SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Missense_Mutation_p.A36E|SLC29A4_uc003soe.2_Missense_Mutation_p.A36E	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (nucleoside	36	Extracellular (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			liver(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CTGGAGGAGGCGGCGGAGGCG	0.672													A	5327554	C	A	5327554	3	1	25	1	0	0	0	0	1	0	0	0	14537	768	27	5	109	5	SLC29A4	7	5327554	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	377952	5327554	153811109	480	22916											
FBXL18	80028	broad.mit.edu	37	chr7	5540290	5540290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgggcagctgtgcgagcGtcaggtgccgcaggaaggcc	18	12	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:5540290G>A	uc003soo.2	-	3	1704	c.1610C>T	c.(1609-1611)ACG>ATG	p.T537M	FBXL18_uc003son.3_Missense_Mutation_p.T537M	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	537	LRR 9.									central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CTGTGCGAGCGTCAGGTGCCG	0.697													A	5540290	G	A	5540290	3	1	25	1	0	0	0	0	1	0	0	0	5714	1145	40	1	558	1	FBXL18	7	5540290	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	212736	5540290	153598373	481	22917											
FSCN1	6624	broad.mit.edu	37	chr7	5643549	5643549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccccatcatcgtgttccgCggggagcatggcttcatcgg	13	14	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:5643549C>T	uc003sou.2	+	4	1281	c.1167C>T	c.(1165-1167)CGC>CGT	p.R389R	FSCN1_uc003sov.2_Silent_p.R111R|FSCN1_uc003sow.2_Silent_p.R111R	NM_003088	NP_003079	Q16658	FSCN1_HUMAN	fascin 1	389					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			ovary(1)	1		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		TCGTGTTCCGCGGGGAGCATG	0.617													T	5643549	C	T	5643549	2	4	25	1	0	0	0	0	0	0	0	1	6067	755	27	1		1	FSCN1	7	5643549	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	103259	5643549	153495114	482	22918											
SOSTDC1	25928	broad.mit.edu	37	chr7	16502286	16502286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggactcgttgtgctgccGggtgtacctcttgcacttgc	12	12	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:16502286G>A	uc003stg.2	-	2	689	c.508C>T	c.(508-510)CGG>TGG	p.R170W	SOSTDC1_uc003sth.2_Missense_Mutation_p.R194W	NM_015464	NP_056279	Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1 precursor	170	CTCK.				Wnt receptor signaling pathway					ovary(2)|central_nervous_system(1)	3	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TTGTGCTGCCGGGTGTACCTC	0.537													A	16502286	G	A	16502286	3	1	25	1	0	0	0	0	1	0	0	0	14939	1115	39	1	116	1	SOSTDC1	7	16502286	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	10858737	16502286	142636377	483	22919											
SOSTDC1	25928	broad.mit.edu	37	chr7	16502300	16502300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccgggtgtacctcttgCacttgcaggcagtgactact	12	12	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:16502300C>T	uc003stg.2	-	2	675	c.494G>A	c.(493-495)TGC>TAC	p.C165Y	SOSTDC1_uc003sth.2_Missense_Mutation_p.C189Y	NM_015464	NP_056279	Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1 precursor	165	CTCK.				Wnt receptor signaling pathway					ovary(2)|central_nervous_system(1)	3	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		GTACCTCTTGCACTTGCAGGC	0.542													T	16502300	C	T	16502300	3	4	25	1	0	0	0	0	1	0	0	0	14939	710	25	2	130	2	SOSTDC1	7	16502300	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	14	16502300	142636363	484	22920											
DNAH11	8701	broad.mit.edu	37	chr7	21760398	21760398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaatgtaccttctgacaGcccaaaagaagtttatgaag	8	7	1	4			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:21760398G>A	uc003svc.2	+	45	7242	c.7211G>A	c.(7210-7212)AGC>AAC	p.S2404N		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2404					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CCTTCTGACAGCCCAAAAGAA	0.353									Kartagener_syndrome				A	21760398	G	A	21760398	3	1	25	1	0	0	0	0	1	0	0	0	4599	971	34	2	7386	2	DNAH11	7	21760398	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	5258098	21760398	137378265	485	22921											
HOXA2	3199	broad.mit.edu	37	chr7	27140938	27140938	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctctcagtcaaatccaGcagcgctgcaatctccaccc	6	16	4	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:27140938G>T	uc003syh.2	-	2	813	c.538C>A	c.(538-540)CTG>ATG	p.L180M		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	180	Homeobox.					nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						GTCAAATCCAGCAGCGCTGCA	0.478													T	27140938	G	T	27140938	3	4	25	1	0	0	0	0	1	0	0	0	7292	962	34	5	596	5	HOXA2	7	27140938	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	5380540	27140938	131997725	486	22922											
HOXA3	3200	broad.mit.edu	37	chr7	27147924	27147924	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcgcagctgggcagggaCgcagggtaggaggcgggggg	25	7	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:27147924C>T	uc011jzl.1	-	3	1142	c.942G>A	c.(940-942)GCG>GCA	p.A314A	HOXA3_uc011jzk.1_Silent_p.A156A|HOXA3_uc003syk.2_Silent_p.A314A	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	314					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2						TGGGCAGGGACGCAGGGTAGG	0.726													T	27147924	C	T	27147924	2	4	25	1	0	0	0	0	0	0	0	1	7293	523	19	1		1	HOXA3	7	27147924	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	6986	27147924	131990739	487	22923											
HOXA3	3200	broad.mit.edu	37	chr7	27150221	27150221	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggtaggggtagccaccGtagatcgccgagctgtcgta	15	11	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:27150221G>A	uc011jzl.1	-	2	239	c.39C>T	c.(37-39)TAC>TAT	p.Y13Y	HOXA3_uc011jzk.1_Intron|HOXA3_uc003syk.2_Silent_p.Y13Y	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	13					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2						GGTAGCCACCGTAGATCGCCG	0.607													A	27150221	G	A	27150221	2	1	25	1	0	0	0	0	0	0	0	1	7293	1140	40	1		1	HOXA3	7	27150221	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2297	27150221	131988442	488	22924											
TXNDC3	51314	broad.mit.edu	37	chr7	37901657	37901657	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaattatcgaaaagattcagGgtgcaaatgcaccgcttgtt	9	7	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:37901657G>T	uc003tfn.2	+	7	670	c.298G>T	c.(298-300)GGT>TGT	p.G100C		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	100	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						AAAGATTCAGGGTGCAAATGC	0.378									Kartagener_syndrome				T	37901657	G	T	37901657	3	4	25	1	0	0	0	0	1	0	0	0	16795	1232	43	5	316	5	TXNDC3	7	37901657	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	10751436	37901657	121237006	489	22925											
TARP	445347	broad.mit.edu	37	chr7	38357047	38357047	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggagcaaaactacttaCgagccccaaggactgccagc	12	12	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:38357047C>T	uc003tge.1	-	2	423	c.46_splice	c.e2+1	p.L16_splice	uc003tfz.1_5'Flank|TARP_uc003tgf.1_5'Flank|TARP_uc003tgj.1_5'Flank|TARP_uc003tgh.1_5'Flank|TARP_uc003tgi.1_5'Flank|TARP_uc003tgg.1_5'Flank			A2JGV3	A2JGV3_HUMAN	Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds.												0						AAACTACTTACGAGCCCCAAG	0.448													T	38357047	C	T	38357047	5	4	25	1	0	0	0	0	0	0	1	0	15555	551	19	1		1	TARP	7	38357047	Splice_Site	SNP	C	TCGA-BR-4370-01A-01D-1158-08	455390	38357047	120781616	490	22926											
POLM	27434	broad.mit.edu	37	chr7	44112960	44112960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtcttcctctgaagccGcttggaaaaatgtcttctgc	9	10	4	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:44112960G>A	uc003tjt.2	-	11	1507	c.1415C>T	c.(1414-1416)GCG>GTG	p.A472V	POLM_uc003tjw.1_Missense_Mutation_p.R109W|POLM_uc003tju.2_Missense_Mutation_p.A435V|POLM_uc003tjx.2_Missense_Mutation_p.R410W|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Missense_Mutation_p.R140W	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	DNA-directed DNA polymerase mu	472					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3						CTCTGAAGCCGCTTGGAAAAA	0.567								DNA_polymerases_(catalytic_subunits)					A	44112960	G	A	44112960	3	1	25	1	0	0	0	0	1	0	0	0	12206	1087	38	1	73	1	POLM	7	44112960	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	5755913	44112960	115025703	491	22927											
OGDH	4967	broad.mit.edu	37	chr7	44734127	44734127	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcctgtgttacagaagtaCgctgagctgctggtgtcgca	13	9	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:44734127C>T	uc003tln.2	+	12	1729	c.1620C>T	c.(1618-1620)TAC>TAT	p.Y540Y	OGDH_uc011kbx.1_Silent_p.Y536Y|OGDH_uc011kby.1_Silent_p.Y390Y|OGDH_uc003tlp.2_Silent_p.Y551Y|OGDH_uc011kbz.1_Silent_p.Y335Y|OGDH_uc003tlo.1_Silent_p.Y373Y	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	540					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	TACAGAAGTACGCTGAGCTGC	0.587													T	44734127	C	T	44734127	2	4	25	1	0	0	0	0	0	0	0	1	10839	547	19	1		1	OGDH	7	44734127	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	621167	44734127	114404536	492	22928											
TNS3	64759	broad.mit.edu	37	chr7	47343041	47343041	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctggagctctgacggcggGaagcaggacagcactgggga	18	10	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:47343041G>A	uc003tnv.2	-	22	3331	c.2964C>T	c.(2962-2964)TTC>TTT	p.F988F	TNS3_uc003tnw.2_Silent_p.F988F	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	988						focal adhesion	protein binding			ovary(4)	4						CTGACGGCGGGAAGCAGGACA	0.672													A	47343041	G	A	47343041	2	1	25	1	0	0	0	0	0	0	0	1	16341	1165	41	4		4	TNS3	7	47343041	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2608914	47343041	111795622	493	22929											
PKD1L1	168507	broad.mit.edu	37	chr7	47879214	47879214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggggaaggcccacggctgtCgtgccagaggcggatcttcc	16	12	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:47879214C>T	uc003tny.1	-	36	5599	c.5599G>A	c.(5599-5601)GAC>AAC	p.D1867N		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1867	PLAT.|Cytoplasmic (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						CCACGGCTGTCGTGCCAGAGG	0.652													T	47879214	C	T	47879214	3	4	25	1	0	0	0	0	1	0	0	0	11964	884	31	1	3038	1	PKD1L1	7	47879214	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	536173	47879214	111259449	494	22930											
COBL	23242	broad.mit.edu	37	chr7	51096436	51096437	+	Frame_Shift_Del	DEL	CT	CT	-													aggggggtcccctggcagagCtctctgagggtcggcccagg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:51096435_51096436GCT>G	uc003tps.3	-	10	2713_2714	c.2528_2529AGC>C	c.(2527-2529)agcfs	p.S843fs	COBL_uc003tpr.4_Frame_Shift_Del_p.S786fs|COBL_uc011kcl.2_Frame_Shift_Del_p.S786fs|COBL_uc003tpp.4_Frame_Shift_Del_p.S572fs|COBL_uc003tpq.4_Frame_Shift_Del_p.S727fs|COBL_uc003tpo.4_Frame_Shift_Del_p.S328fs	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	786								p.S786I(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCCTGGCAGAGCTCTCTGAGGG	0.584													-	51096437	CT	-	51096436	7	5	25	1	0	1	0	1	0	0	0	0	3653	797	28	0	1444	0	COBL	7	51096436	Frame_Shift_Del	DEL	CT	TCGA-BR-4370-01A-01D-1158-08	3217222	51096436	108042227	495	22931											
ZNF713	349075	broad.mit.edu	37	chr7	56007338	56007338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgtgggaaagccttccGtcagcattcatcctttactc	9	11	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:56007338G>A	uc003trc.1	+	4	970	c.932G>A	c.(931-933)CGT>CAT	p.R311H	ZNF713_uc003tra.1_Missense_Mutation_p.R324H|MRPS17_uc003trb.2_Intron	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	zinc finger protein 713	311	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AAAGCCTTCCGTCAGCATTCA	0.403													A	56007338	G	A	56007338	3	1	25	1	0	0	0	0	1	0	0	0	18114	1145	40	1	946	1	ZNF713	7	56007338	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	4910902	56007338	103131325	496	22932											
AUTS2	26053	broad.mit.edu	37	chr7	70254984	70254984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacggccacgaggggcgcGccgcgggcgaagaggccaag	20	13	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:70254984G>A	uc003tvw.3	+	19	3525	c.2782G>A	c.(2782-2784)GCC>ACC	p.A928T	AUTS2_uc003tvx.3_Missense_Mutation_p.A904T|AUTS2_uc011keg.1_Missense_Mutation_p.A380T	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	928										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CGAGGGGCGCGCCGCGGGCGA	0.716													A	70254984	G	A	70254984	3	1	25	1	0	0	0	0	1	0	0	0	1225	1087	38	1	3001	1	AUTS2	7	70254984	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	14247646	70254984	88883679	497	22933											
WBSCR17	64409	broad.mit.edu	37	chr7	70885914	70885914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgagccggttctatcccGcatccaggaaaaccggaagc	12	13	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:70885914G>A	uc003tvy.2	+	5	785	c.785G>A	c.(784-786)CGC>CAC	p.R262H	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	262	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GTTCTATCCCGCATCCAGGAA	0.537													A	70885914	G	A	70885914	3	1	25	1	0	0	0	0	1	0	0	0	17261	1087	38	1	803	1	WBSCR17	7	70885914	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	630930	70885914	88252749	498	22934											
TRIM50	135892	broad.mit.edu	37	chr7	72738631	72738631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccggcacacggggcagCgcagctcggcatccaggtgg	16	15	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:72738631C>T	uc010lbd.1	-	2	280	c.155G>A	c.(154-156)CGC>CAC	p.R52H	FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Missense_Mutation_p.R52H|TRIM50_uc003txz.1_Missense_Mutation_p.R52H	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	tripartite motif protein 50A	52	RING-type.					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			skin(1)	1						CACGGGGCAGCGCAGCTCGGC	0.677											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	72738631	C	T	72738631	3	4	25	1	0	0	0	0	1	0	0	0	16523	768	27	1	1332	1	TRIM50	7	72738631	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1852717	72738631	86400032	499	22935											
TBL2	26608	broad.mit.edu	37	chr7	72985188	72985188	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaggcggcacggcgcggcAcccgccgcctcttcaaagcg	14	18	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:72985188A>G	uc003tyh.2	-	7	1127	c.993T>C	c.(991-993)GGT>GGC	p.G331G	TBL2_uc011kex.1_Silent_p.G295G|TBL2_uc010lbg.2_Silent_p.G236G|TBL2_uc003tyi.2_Silent_p.G166G|TBL2_uc011key.1_Silent_p.G202G|TBL2_uc010lbh.2_Silent_p.G236G	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	331	WD 6.										0		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACGGCGCGGCACCCGCCGCCT	0.602													G	72985188	A	G	72985188	2	3	25	1	0	0	0	0	0	0	0	1	15639	146	6	3		3	TBL2	7	72985188	Silent	SNP	A	TCGA-BR-4370-01A-01D-1158-08	246557	72985188	86153475	500	22936											
WBSCR22	114049	broad.mit.edu	37	chr7	73106929	73106929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcctgtttctttcaggtcCggggatcccgagctgtcctg	12	12	2	0	rs141991727		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:73106929C>T	uc003tyt.2	+	7	521	c.463C>T	c.(463-465)CGG>TGG	p.R155W	WBSCR22_uc010lbi.1_RNA|WBSCR22_uc003tyu.2_Missense_Mutation_p.R155W|WBSCR22_uc003tyv.2_Missense_Mutation_p.R117W|WBSCR22_uc003tyw.1_Missense_Mutation_p.R18W	NM_017528	NP_059998	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	155						nucleus	methyltransferase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTTTCAGGTCCGGGGATCCCG	0.488													T	73106929	C	T	73106929	3	4	25	1	0	0	0	0	1	0	0	0	17262	643	23	1	489	1	WBSCR22	7	73106929	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	121741	73106929	86031734	501	22937											
PCLO	27445	broad.mit.edu	37	chr7	82387901	82387901	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatgtttcttcaatgcgttTgagtaggactgaccaaaagt	9	7	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:82387901T>C	uc003uhx.2	-	25	15708	c.15419A>G	c.(15418-15420)CAA>CGA	p.Q5140R		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	5063					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TCAATGCGTTTGAGTAGGACT	0.378													C	82387901	T	C	82387901	3	2	25	1	0	0	0	0	1	0	0	0	11583	1812	63	3	13	3	PCLO	7	82387901	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	9280972	82387901	76750762	502	22938											
PCLO	27445	broad.mit.edu	37	chr7	82595405	82595405	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttttcttctaggagtggCtttttttcttcagaacgtat	7	6	4	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:82595405C>T	uc003uhx.2	-	4	3988	c.3699G>A	c.(3697-3699)AAG>AAA	p.K1233K	PCLO_uc003uhv.2_Silent_p.K1233K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1172					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTAGGAGTGGCTTTTTTTCTT	0.383													T	82595405	C	T	82595405	2	4	25	1	0	0	0	0	0	0	0	1	11583	796	28	2		2	PCLO	7	82595405	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	207504	82595405	76543258	503	22939											
SEMA3D	223117	broad.mit.edu	37	chr7	84636220	84636220	+	Frame_Shift_Del	DEL	A	A	-													gttgagttaaattcaatgccAaaaatcaccttttcatcagc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:84636219_84636219CA>C	uc003uic.3	-	15	1847	c.1807_1807TG>G	c.(1807-1809)ggcfs	p.G603fs	SEMA3D_uc010led.3_Frame_Shift_Del_p.G603fs|SEMA3D_uc003uib.3_Frame_Shift_Del_p.G242fs	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	603	Ig-like C2-type.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AATTCAATGCCAAAAATCACC	0.378													-	84636220	A	-	84636220	7	5	25	1	0	1	0	1	0	0	0	0	14027	127	5	0	535	0	SEMA3D	7	84636220	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	2040815	84636220	74502443	504	22940											
DMTF1	9988	broad.mit.edu	37	chr7	86811625	86811625	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctgtcaaagatcggtgCcgactgatgaaggatacttg	11	8	3	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:86811625C>T	uc003uih.2	+	10	1118	c.792C>T	c.(790-792)TGC>TGT	p.C264C	DMTF1_uc003uii.2_5'UTR|DMTF1_uc003uij.2_5'UTR|DMTF1_uc011khb.1_Silent_p.C176C|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Silent_p.C264C|DMTF1_uc003uin.2_5'UTR	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	264	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)					AAGATCGGTGCCGACTGATGA	0.493													T	86811625	C	T	86811625	2	4	25	1	0	0	0	0	0	0	0	1	4592	747	26	2		2	DMTF1	7	86811625	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2175405	86811625	72327038	505	22941											
ABCB1	5243	broad.mit.edu	37	chr7	87178807	87178808	+	Frame_Shift_Del	DEL	CT	CT	-													cccaccactcaactgggcccCtctctctccaaccagggtgt							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:87178806_87178807CCT>C	uc003uiz.2	-	14	2075_2076	c.1582_1583AGG>G	c.(1582-1584)gggfs	p.G528fs	ABCB1_uc011khc.2_Frame_Shift_Del_p.G464fs	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	528	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CAACTGGGCCCCTCTCTCTCCA	0.505													-	87178808	CT	-	87178807	7	5	25	1	0	1	0	1	0	0	0	0	40	681	24	0	2320	0	ABCB1	7	87178807	Frame_Shift_Del	DEL	CT	TCGA-BR-4370-01A-01D-1158-08	367182	87178807	71959856	506	22942											
ADAM22	53616	broad.mit.edu	37	chr7	87765316	87765316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgtaaatgcgaggacaCgtggtccgggtgcataatgg	15	6	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:87765316C>T	uc003ujn.2	+	14	1269	c.1190C>T	c.(1189-1191)ACG>ATG	p.T397M	ADAM22_uc003ujk.1_Missense_Mutation_p.T397M|ADAM22_uc003ujl.1_Missense_Mutation_p.T397M|ADAM22_uc003ujm.2_Missense_Mutation_p.T397M|ADAM22_uc003ujo.2_Missense_Mutation_p.T397M|ADAM22_uc003ujp.1_Missense_Mutation_p.T449M	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	397	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TGCGAGGACACGTGGTCCGGG	0.373													T	87765316	C	T	87765316	3	4	25	1	0	0	0	0	1	0	0	0	244	536	19	1	1244	1	ADAM22	7	87765316	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	586509	87765316	71373347	507	22943											
C7orf63	79846	broad.mit.edu	37	chr7	89939548	89939548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaaaaaagagtattcctaCgtaatatactatagagactt	5	7	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:89939548C>T	uc010lep.2	+	23	3073	c.2822C>T	c.(2821-2823)ACG>ATG	p.T941M	C7orf63_uc011khj.1_Missense_Mutation_p.T923M|C7orf63_uc011khk.1_Missense_Mutation_p.T457M	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	hypothetical protein LOC79846 isoform 1	941							binding			ovary(1)	1						AGTATTCCTACGTAATATACT	0.308													T	89939548	C	T	89939548	3	4	25	1	0	0	0	0	1	0	0	0	2409	536	19	1	2912	1	C7orf63	7	89939548	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2174232	89939548	69199115	508	22944											
CYP51A1	1595	broad.mit.edu	37	chr7	91752621	91752621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatcatcagtcaaaggaCgcccatccctaaggaatgaa	7	12	4	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:91752621C>T	uc003ulm.3	-	7	1061	c.899G>A	c.(898-900)CGT>CAT	p.R300H	CYP51A1_uc011khn.1_Missense_Mutation_p.R195H|CYP51A1_uc003uln.3_Missense_Mutation_p.R237H	NM_000786	NP_000777	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A,	294					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity				0	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	AGTCAAAGGACGCCCATCCCT	0.393													T	91752621	C	T	91752621	3	4	25	1	0	0	0	0	1	0	0	0	4195	536	19	1	646	1	CYP51A1	7	91752621	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1813073	91752621	67386042	509	22945											
SAMD9	54809	broad.mit.edu	37	chr7	92732292	92732292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcaccttcatgttcatcgCggtgtcttgtgagtaggagt	11	8	4	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:92732292C>T	uc003umf.2	-	3	3375	c.3119G>A	c.(3118-3120)CGC>CAC	p.R1040H	SAMD9_uc003umg.2_Missense_Mutation_p.R1040H	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1040						cytoplasm		p.R1040L(1)		ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGTTCATCGCGGTGTCTTGT	0.363													T	92732292	C	T	92732292	3	4	25	1	0	0	0	0	1	0	0	0	13826	768	27	1	1654	1	SAMD9	7	92732292	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	979671	92732292	66406371	510	22946											
COL1A2	1278	broad.mit.edu	37	chr7	94052330	94052330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagggcttcgtggtcctcGtggtgaccaaggtccagttg	15	9	0	2	rs1800240		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:94052330G>A	uc003ung.1	+	40	2936	c.2465G>A	c.(2464-2466)CGT>CAT	p.R822H	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	822			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CGTGGTCCTCGTGGTGACCAA	0.557										HNSCC(75;0.22)			A	94052330	G	A	94052330	3	1	25	1	0	0	0	0	1	0	0	0	3678	1145	40	1	2623	1	COL1A2	7	94052330	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1320038	94052330	65086333	511	22947											
COL1A2	1278	broad.mit.edu	37	chr7	94057007	94057007	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggttatgactttggttaCgatggagacttctacagggc	14	6	1	2	rs34691365	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:94057007C>T	uc003ung.1	+	49	3807	c.3336C>T	c.(3334-3336)TAC>TAT	p.Y1112Y	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1112					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ACTTTGGTTACGATGGAGACT	0.547										HNSCC(75;0.22)			T	94057007	C	T	94057007	2	4	25	1	0	0	0	0	0	0	0	1	3678	547	19	1		1	COL1A2	7	94057007	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	4677	94057007	65081656	512	22948											
PPP1R9A	55607	broad.mit.edu	37	chr7	94917878	94917878	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggacagtctcccaaacacAgtcagtgtcagaatcgggcc	10	12	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:94917878A>G	uc003unp.2	+	15	3214	c.2932A>G	c.(2932-2934)AGT>GGT	p.S978G	PPP1R9A_uc010lfj.2_Missense_Mutation_p.S1254G|PPP1R9A_uc011kif.1_Missense_Mutation_p.S1176G|PPP1R9A_uc003unq.2_Intron|PPP1R9A_uc011kig.1_Missense_Mutation_p.S970G|PPP1R9A_uc003unr.2_Missense_Mutation_p.S267G	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	978	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCCCAAACACAGTCAGTGTCA	0.428										HNSCC(28;0.073)			G	94917878	A	G	94917878	3	3	25	1	0	0	0	0	1	0	0	0	12378	188	7	3	3858	3	PPP1R9A	7	94917878	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	860871	94917878	64220785	513	22949											
LMTK2	22853	broad.mit.edu	37	chr7	97821441	97821441	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcgactattatatccagtTagaagaaaaaagtggtagta	9	4	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:97821441T>C	uc003upd.1	+	11	1957	c.1664T>C	c.(1663-1665)TTA>TCA	p.L555S		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	555					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TATATCCAGTTAGAAGAAAAA	0.502													C	97821441	T	C	97821441	3	2	25	1	0	0	0	0	1	0	0	0	8859	1764	61	3	1706	3	LMTK2	7	97821441	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	2903563	97821441	61317222	514	22950											
ARPC1A	10552	broad.mit.edu	37	chr7	98935830	98935830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctcagtcccaataatcacGaagtgcacatctataagaag	6	12	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:98935830G>A	uc003upx.1	+	3	238	c.91G>A	c.(91-93)GAA>AAA	p.E31K	ARPC1A_uc010lfu.1_RNA|ARPC1A_uc003upy.1_Missense_Mutation_p.E17K|ARPC1A_uc011kit.1_RNA	NM_006409	NP_006400	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex subunit 1A	31	WD 1.				actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			ovary(1)	1	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			CAATAATCACGAAGTGCACAT	0.468													A	98935830	G	A	98935830	3	1	25	1	0	0	0	0	1	0	0	0	969	1059	37	1	97	1	ARPC1A	7	98935830	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1114389	98935830	60202833	515	22951											
AP4M1	9179	broad.mit.edu	37	chr7	99702683	99702683	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacagagatgcgcattggctTgacggaagagttttgtgtgg	16	5	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:99702683T>C	uc003utb.3	+	9	897	c.689T>C	c.(688-690)TTG>TCG	p.L230S	AP4M1_uc011kjg.1_Missense_Mutation_p.L184S|AP4M1_uc010lgl.1_Missense_Mutation_p.L230S|AP4M1_uc003utc.3_Missense_Mutation_p.L237S|AP4M1_uc010lgm.2_Missense_Mutation_p.L102S|AP4M1_uc003utd.2_Missense_Mutation_p.L230S|AP4M1_uc011kjh.1_Missense_Mutation_p.L182S|AP4M1_uc003ute.3_Missense_Mutation_p.L5S|AP4M1_uc003utf.3_Missense_Mutation_p.L102S	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	230	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGCATTGGCTTGACGGAAGAG	0.532													C	99702683	T	C	99702683	3	2	25	1	0	0	0	0	1	0	0	0	753	1821	63	3	723	3	AP4M1	7	99702683	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	766853	99702683	59435980	516	22952											
ZAN	7455	broad.mit.edu	37	chr7	100361492	100361492	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctgcagagcagcatgtcGgggccagggttctgtggacg	16	10	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:100361492G>A	uc003uwj.2	+	21	4215	c.4050G>A	c.(4048-4050)TCG>TCA	p.S1350S	ZAN_uc003uwk.2_Silent_p.S1350S|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Intron	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1350	VWFD 1.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCAGCATGTCGGGGCCAGGGT	0.577													A	100361492	G	A	100361492	2	1	25	1	0	0	0	0	0	0	0	1	17510	1103	39	1		1	ZAN	7	100361492	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	658809	100361492	58777171	517	22953											
MUC17	140453	broad.mit.edu	37	chr7	100677551	100677551	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaactcctgttgacaccAgcacacctgtgaccacttct	6	16	1	2	rs146914932		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:100677551A>G	uc003uxp.1	+	3	2907	c.2854A>G	c.(2854-2856)AGC>GGC	p.S952G	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	952	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|14.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TGTTGACACCAGCACACCTGT	0.507													G	100677551	A	G	100677551	3	3	25	1	0	0	0	0	1	0	0	0	9974	188	7	3	2864	3	MUC17	7	100677551	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	316059	100677551	58461112	518	22954											
CUX1	1523	broad.mit.edu	37	chr7	101921277	101921277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtgagctggacagcctgCgcgccgacaacatcaagctc	12	13	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:101921277C>T	uc003uyt.2	+	18	1640	c.1621C>T	c.(1621-1623)CGC>TGC	p.R541C	CUX1_uc011kkn.1_Missense_Mutation_p.R502C|CUX1_uc003uyw.2_Missense_Mutation_p.R495C|CUX1_uc003uyv.2_Missense_Mutation_p.R525C|CUX1_uc003uyu.2_Missense_Mutation_p.R539C|CUX1_uc003uyz.2_RNA	NM_001913	NP_001904	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform b	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						GGACAGCCTGCGCGCCGACAA	0.672													T	101921277	C	T	101921277	3	4	25	1	0	0	0	0	1	0	0	0	4064	768	27	1	5061	1	CUX1	7	101921277	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1243726	101921277	57217386	519	22955											
CUX1	1523	broad.mit.edu	37	chr7	101925162	101925162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctccaacaagatggcgCgcaccatcggcttcttctac	7	15	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:101925162C>T	uc003uyt.2	+	21	1871	c.1852C>T	c.(1852-1854)CGC>TGC	p.R618C	CUX1_uc011kkn.1_Missense_Mutation_p.R579C|CUX1_uc003uyw.2_Missense_Mutation_p.R572C|CUX1_uc003uyv.2_Missense_Mutation_p.R602C|CUX1_uc003uyu.2_Missense_Mutation_p.R616C|CUX1_uc003uyz.2_RNA	NM_001913	NP_001904	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform b	Error:Variant_position_missing_in_P39880_after_alignment					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						CAAGATGGCGCGCACCATCGG	0.652													T	101925162	C	T	101925162	3	4	25	1	0	0	0	0	1	0	0	0	4064	768	27	1	5304	1	CUX1	7	101925162	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3885	101925162	57213501	520	22956											
RELN	5649	broad.mit.edu	37	chr7	103155812	103155812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtcgttctgatccaggcCgtcatgtcttggctgccacc	10	15	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:103155812C>T	uc003vca.2	-	50	8099	c.7939G>A	c.(7939-7941)GGC>AGC	p.G2647S	RELN_uc010liz.2_Missense_Mutation_p.G2647S	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2647					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGATCCAGGCCGTCATGTCTT	0.532													T	103155812	C	T	103155812	3	4	25	1	0	0	0	0	1	0	0	0	13220	652	23	1	2507	1	RELN	7	103155812	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1230650	103155812	55982851	521	22957											
RELN	5649	broad.mit.edu	37	chr7	103163922	103163922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacattatctattgcccatGtctgctgcttgtcaaaagga	8	9	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:103163922G>A	uc003vca.2	-	47	7566	c.7406C>T	c.(7405-7407)ACA>ATA	p.T2469I	RELN_uc010liz.2_Missense_Mutation_p.T2469I	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2469					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TATTGCCCATGTCTGCTGCTT	0.463													A	103163922	G	A	103163922	3	1	25	1	0	0	0	0	1	0	0	0	13220	1377	48	4	3052	4	RELN	7	103163922	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	8110	103163922	55974741	522	22958											
RINT1	60561	broad.mit.edu	37	chr7	105182968	105182968	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaaactcatctcttcagCgccattaacagccatttgct	6	13	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:105182968C>T	uc003vda.1	+	4	618	c.387C>T	c.(385-387)AGC>AGT	p.S129S	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	129					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			ovary(3)|central_nervous_system(1)	4						ATCTCTTCAGCGCCATTAACA	0.408													T	105182968	C	T	105182968	2	4	25	1	0	0	0	0	0	0	0	1	13376	767	27	1		1	RINT1	7	105182968	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2019046	105182968	53955695	523	22959											
ATXN7L1	222255	broad.mit.edu	37	chr7	105516960	105516960	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttccctgttccttcggcAgcagcagccgagagacacgg	11	13	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:105516960A>G	uc003vde.2	-	1	72	c.45T>C	c.(43-45)GCT>GCC	p.A15A	ATXN7L1_uc003vdi.2_Silent_p.A15A|CDHR3_uc003vdk.2_5'Flank|uc003vdj.1_5'Flank	NM_020725	NP_065776	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1 isoform 1	15											0						TTCCTTCGGCAGCAGCAGCCG	0.498													G	105516960	A	G	105516960	2	3	25	1	0	0	0	0	0	0	0	1	1216	175	7	3		3	ATXN7L1	7	105516960	Silent	SNP	A	TCGA-BR-4370-01A-01D-1158-08	333992	105516960	53621703	524	22960											
DLD	1738	broad.mit.edu	37	chr7	107559493	107559493	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgaagctgctcttgctttGgaatatggagcatcctgtga	11	7	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:107559493G>A	uc003vet.2	+	13	1523	c.1413G>A	c.(1411-1413)TTG>TTA	p.L471L	DLD_uc011kmg.1_Silent_p.L423L|DLD_uc011kmh.1_Silent_p.L448L|DLD_uc011kmi.1_Silent_p.L372L	NM_000108	NP_000099	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase precursor	471					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			central_nervous_system(1)	1					NADH(DB00157)	CTCTTGCTTTGGAATATGGAG	0.368													A	107559493	G	A	107559493	2	1	25	1	0	0	0	0	0	0	0	1	4551	1339	47	4		4	DLD	7	107559493	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2042533	107559493	51579170	525	22961											
NRCAM	4897	broad.mit.edu	37	chr7	107818475	107818475	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactctgtcaaaatgccattCgggtggctcggtggatccca	11	11	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:107818475C>T	uc003vfb.2	-	26	3405	c.2934G>A	c.(2932-2934)CCG>CCA	p.P978P	NRCAM_uc003vfc.2_Silent_p.P962P|NRCAM_uc011kmk.1_Silent_p.P973P|NRCAM_uc003vfd.2_Silent_p.P954P|NRCAM_uc003vfe.2_Silent_p.P954P|NRCAM_uc011kmj.1_5'Flank	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	978	Fibronectin type-III 4.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						AAATGCCATTCGGGTGGCTCG	0.413													T	107818475	C	T	107818475	2	4	25	1	0	0	0	0	0	0	0	1	10644	871	31	1		1	NRCAM	7	107818475	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	258982	107818475	51320188	526	22962											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519666	113519666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgattctttgagacatgccGacgtatctgaatggaaatct	9	7	3	3	rs17847377	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:113519666G>A	uc010ljy.1	-	4	1512	c.1481C>T	c.(1480-1482)TCG>TTG	p.S494L		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	494					glycogen metabolic process	integral to membrane		p.S494L(1)		lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						GAGACATGCCGACGTATCTGA	0.333													A	113519666	G	A	113519666	3	1	25	1	0	0	0	0	1	0	0	0	12371	1059	37	1	1891	1	PPP1R3A	7	113519666	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	5701191	113519666	45618997	527	22963											
CFTR	1080	broad.mit.edu	37	chr7	117304765	117304766	+	Frame_Shift_Del	DEL	AC	AC	-													gggctcagatctgtgatagaAcagtttcctgggaagcttga							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:117304764_117304765AAC>A	uc003vjd.3	+	24	4118_4119	c.3986_3987AAC>A	c.(3985-3987)gaafs	p.E1329fs	CFTR_uc011knq.2_Frame_Shift_Del_p.E735fs	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1329	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCTGTGATAGAACAGTTTCCTG	0.446									Cystic Fibrosis				-	117304766	AC	-	117304765	7	5	25	1	0	1	0	1	0	0	0	0	3294	40	2	0	4085	0	CFTR	7	117304765	Frame_Shift_Del	DEL	AC	TCGA-BR-4370-01A-01D-1158-08	3785099	117304765	41833898	528	22964											
WNT16	51384	broad.mit.edu	37	chr7	120971879	120971880	+	Frame_Shift_Ins	INS	-	-	G													gcaagtgaaggctggcactgINSggggggctgctccgatgatg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:120971878_120971879T>TG	uc003vjw.3	+	2	750_751	c.493_494T>TG	c.(493-495)tggfs	p.W165fs	WNT16_uc003vjv.3_Frame_Shift_Ins_p.W155fs|WNT16_uc010lkl.3_Intron	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA.	165					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	p.C168fs*4(2)|p.H164P(1)|p.G167fs*17(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					AGGCTGGCACTGGGGGGGCTGC	0.535													G	120971880	-	G	120971879	7	5	25	1	0	1	1	0	0	0	0	0	17382	1357	47	0	573	0	WNT16	7	120971879	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	3667114	120971879	38166784	529	22965											
HYAL4	23553	broad.mit.edu	37	chr7	123516944	123516944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataaggaagatgtggaacgCgcccagttaccttcacttga	10	10	1	2	rs150077532	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:123516944C>T	uc003vlc.2	+	5	1819	c.1181C>T	c.(1180-1182)GCG>GTG	p.A394V	HYAL4_uc011knz.1_3'UTR	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	394	Extracellular (Potential).				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			skin(1)	1						ATGTGGAACGCGCCCAGTTAC	0.507													T	123516944	C	T	123516944	3	4	25	1	0	0	0	0	1	0	0	0	7466	768	27	1	1191	1	HYAL4	7	123516944	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2545065	123516944	35621719	530	22966											
ZNF800	168850	broad.mit.edu	37	chr7	127013702	127013702	+	Frame_Shift_Del	DEL	T	T	-													ttagaacaaaatcaataggcTtttttatagctctgatctct							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:127013701_127013701CT>C	uc010lla.2	-	4	2401	c.1689_1689AG>G	c.(1687-1689)aagfs	p.K563fs	ZNF800_uc003vlw.1_Frame_Shift_Del_p.K466fs|ZNF800_uc003vlx.1_Frame_Shift_Del_p.K563fs|ZNF800_uc003vly.1_Frame_Shift_Del_p.K563fs	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	Homo sapiens zinc finger protein 800 (ZNF800), mRNA.	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						AATCAATAGGCTTTTTTATAG	0.368													-	127013702	T	-	127013702	7	5	25	1	0	1	0	1	0	0	0	0	18166	1609	56	0	314	0	ZNF800	7	127013702	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	3496758	127013702	32124961	531	22967											
GCC1	79571	broad.mit.edu	37	chr7	127222456	127222456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaagtgggctcattggccGctgcaagttgtaatgcttgg	14	7	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:127222456G>A	uc003vma.2	-	2	2358	c.1940C>T	c.(1939-1941)GCG>GTG	p.A647V		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Golgi coiled-coil protein 1	647	Potential.					Golgi membrane|plasma membrane	protein binding			ovary(2)	2						CTCATTGGCCGCTGCAAGTTG	0.587													A	127222456	G	A	127222456	3	1	25	1	0	0	0	0	1	0	0	0	6285	1087	38	1	391	1	GCC1	7	127222456	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	208754	127222456	31916207	532	22968											
SND1	27044	broad.mit.edu	37	chr7	127724851	127724851	+	Frame_Shift_Del	DEL	C	C	-													ccctgtagagggctcctatgCcccccgcaggggagagttct							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:127724850_127724850GC>G	uc003vmi.3	+	18	2411	c.2185_2185GC>G	c.(2185-2187)gccfs	p.A729fs	SND1_uc010lle.3_Frame_Shift_Del_p.A382fs	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	729	Tudor.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GGGCTCCTATGCCCCCCGCAG	0.547													-	127724851	C	-	127724851	7	5	25	1	0	1	0	1	0	0	0	0	14844	739	26	0	2260	0	SND1	7	127724851	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	502395	127724851	31413812	533	22969											
SND1	27044	broad.mit.edu	37	chr7	127729627	127729627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgtggaacacctgagtgcCggctgcccccatgtcaccct	10	16	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:127729627C>T	uc003vmi.2	+	22	2731	c.2505C>T	c.(2503-2505)GCC>GCT	p.A835A	SND1_uc010lle.2_Silent_p.A488A	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	835					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						ACCTGAGTGCCGGCTGCCCCC	0.607													T	127729627	C	T	127729627	2	4	25	1	0	0	0	0	0	0	0	1	14844	639	23	1		1	SND1	7	127729627	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	4776	127729627	31409036	534	22970											
C7orf68	29923	broad.mit.edu	37	chr7	128097324	128097324	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtagggtcctttcagccaTgaagcatgtgttgaacctct	11	9	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:128097324T>C	uc003vne.3	+	2	264	c.2T>C	c.(1-3)ATG>ACG	p.M1T	C7orf68_uc010lli.2_Missense_Mutation_p.M1T|C7orf68_uc010llj.1_Intron	NM_013332	NP_037464	Q9Y5L2	HIG2_HUMAN	hypoxia-inducible protein 2	1					autocrine signaling|positive regulation of cell proliferation|response to stress	cell surface|extracellular space|integral to membrane|stored secretory granule	receptor binding				0						CTTTCAGCCATGAAGCATGTG	0.488													C	128097324	T	C	128097324	3	2	25	1	0	0	0	0	1	0	0	0	2413	1464	51	3	4	3	C7orf68	7	128097324	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	367697	128097324	31041339	535	22971											
TSGA13	114960	broad.mit.edu	37	chr7	130356601	130356601	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttttgaatacttcccttcGctcttgaaatcattgtcagt	5	10	3	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:130356601G>A	uc003vqi.2	-	7	1015	c.558C>T	c.(556-558)AGC>AGT	p.S186S	TSGA13_uc003vqj.2_Silent_p.S186S	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	testis specific, 13	186										ovary(2)	2	Melanoma(18;0.0435)					ACTTCCCTTCGCTCTTGAAAT	0.388													A	130356601	G	A	130356601	2	1	25	1	0	0	0	0	0	0	0	1	16616	1078	38	1		1	TSGA13	7	130356601	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2259277	130356601	28782062	536	22972											
MKLN1	4289	broad.mit.edu	37	chr7	131148075	131148076	+	Frame_Shift_Ins	INS	-	-	A													gataaggaaaagagggaagaINSaaatgttagaaattcattct							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:131148074_131148075G>GA	uc011kpm.2	+	12	1688_1689	c.1624_1625G>GA	c.(1624-1626)gaafs	p.E542fs	MKLN1_uc011kpl.2_Frame_Shift_Ins_p.E519fs|MKLN1_uc010lmh.2_Frame_Shift_Ins_p.E542fs|MKLN1_uc003vqs.3_Frame_Shift_Ins_p.E335fs|MKLN1_uc003vqu.3_Frame_Shift_Ins_p.E32fs	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	Homo sapiens muskelin 1, intracellular mediator containing kelch motifs (MKLN1), transcript variant 2, mRNA.	542					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					AAAGAGGGAAGAAAATGTTAGA	0.361													A	131148076	-	A	131148075	7	5	25	1	0	1	1	0	0	0	0	0	9603	246	9	0	1708	0	MKLN1	7	131148075	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	791474	131148075	27990588	537	22973											
PODXL	5420	broad.mit.edu	37	chr7	131191478	131191478	+	Frame_Shift_Del	DEL	C	C	-													tcaatttctcatccgaagcgCcccctgcctatggtggggag							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:131191477_131191477GC>G	uc003vqw.4	-	5	1368	c.1110_1110GC>C	c.(1108-1110)ggcfs	p.G370fs	PODXL_uc003vqx.4_Frame_Shift_Del_p.G338fs	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	370					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATCCGAAGCGCCCCCTGCCT	0.617											OREG0018320	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	131191478	C	-	131191478	7	5	25	1	0	1	0	1	0	0	0	0	12180	739	26	0	583	0	PODXL	7	131191478	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	43403	131191478	27947185	538	22974											
EXOC4	60412	broad.mit.edu	37	chr7	132973839	132973839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggaacagtgcatggccaGcaagcactatctcagtgcca	11	12	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:132973839G>A	uc003vrk.2	+	3	475	c.440G>A	c.(439-441)AGC>AAC	p.S147N	EXOC4_uc011kpo.1_Missense_Mutation_p.S46N|EXOC4_uc003vri.2_Missense_Mutation_p.S147N|EXOC4_uc003vrj.2_Missense_Mutation_p.S147N	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	147					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				TGCATGGCCAGCAAGCACTAT	0.423													A	132973839	G	A	132973839	3	1	25	1	0	0	0	0	1	0	0	0	5306	971	34	2	450	2	EXOC4	7	132973839	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1782361	132973839	26164824	539	22975											
CALD1	800	broad.mit.edu	37	chr7	134632499	134632499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggaagcaggaggaagcCgatcgaaaactcagagagga	16	6	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:134632499C>T	uc003vrz.2	+	8	2232	c.1773C>T	c.(1771-1773)GCC>GCT	p.A591A	CALD1_uc003vry.2_Silent_p.A336A|CALD1_uc003vsa.2_Silent_p.A362A|CALD1_uc003vsb.2_Silent_p.A336A|CALD1_uc010lmm.2_Silent_p.A362A|CALD1_uc011kpt.1_Silent_p.A110A|CALD1_uc003vsc.2_Silent_p.A356A|CALD1_uc003vsd.2_Silent_p.A330A|CALD1_uc011kpu.1_Silent_p.A341A|CALD1_uc011kpv.1_Silent_p.A200A|CALD1_uc003vse.2_Silent_p.A455A	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	591	Tropomyosin-binding (Potential).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						aggaggaagCCGATCGAAAAC	0.294													T	134632499	C	T	134632499	2	4	25	1	0	0	0	0	0	0	0	1	2581	639	23	1		1	CALD1	7	134632499	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1658660	134632499	24506164	540	22976											
MKRN1	23608	broad.mit.edu	37	chr7	140156541	140156541	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgcagttggagaggatcccGaagcggcgctcactggggtt	16	9	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:140156541G>A	uc003vvt.2	-	5	1122	c.897C>T	c.(895-897)TTC>TTT	p.F299F	MKRN1_uc003vvs.2_Silent_p.F235F|MKRN1_uc011krd.1_Silent_p.F33F|MKRN1_uc003vvv.3_Silent_p.F299F|MKRN1_uc003vvu.3_Silent_p.F235F	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1 isoform 1	299	RING-type.						ligase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.00956)					AGAGGATCCCGAAGCGGCGCT	0.527													A	140156541	G	A	140156541	2	1	25	1	0	0	0	0	0	0	0	1	9606	1049	37	1		1	MKRN1	7	140156541	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	5524042	140156541	18982122	541	22977											
MGAM	8972	broad.mit.edu	37	chr7	141727518	141727518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtcgtggagagaaatcgcGcagcacagctcccttatgta	11	10	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:141727518G>A	uc003vwy.2	+	10	1258	c.1204G>A	c.(1204-1206)GCA>ACA	p.A402T		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	402	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGAAATCGCGCAGCACAGCT	0.453													A	141727518	G	A	141727518	3	1	25	1	0	0	0	0	1	0	0	0	9541	1087	38	1	1238	1	MGAM	7	141727518	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1570977	141727518	17411145	542	22978											
NOBOX	135935	broad.mit.edu	37	chr7	144098303	144098303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactgggttgtgtgtggcaCgggctgagttaggggcaccc	18	9	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:144098303C>T	uc011kue.1	-	4	680	c.680G>A	c.(679-681)CGT>CAT	p.R227H		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	227					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			ovary(1)	1	Melanoma(164;0.14)					GTGTGTGGCACGGGCTGAGTT	0.597													T	144098303	C	T	144098303	3	4	25	1	0	0	0	0	1	0	0	0	10512	536	19	1	1327	1	NOBOX	7	144098303	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2370785	144098303	15040360	543	22979											
CNTNAP2	26047	broad.mit.edu	37	chr7	146471423	146471423	+	Frame_Shift_Del	DEL	C	C	-													ggctttcagcagctcctcctCcatctctggtagctattctc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:146471422_146471422TC>T	uc003weu.2	+	1	673	c.157_157TC>T	c.(157-159)tccfs	p.S53fs		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	53	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGCTCCTCCTCCATCTCTGG	0.423										HNSCC(39;0.1)			-	146471423	C	-	146471423	7	5	25	1	0	1	0	1	0	0	0	0	3647	855	30	0	164	0	CNTNAP2	7	146471423	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	2373120	146471423	12667240	544	22980											
ZNF425	155054	broad.mit.edu	37	chr7	148801229	148801229	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcacgcgaagggcttctcGtccctgtgcatccgctggtg	13	15	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:148801229G>A	uc003wfj.2	-	4	1807	c.1734C>T	c.(1732-1734)GAC>GAT	p.D578D		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	578					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGGGCTTCTCGTCCCTGTGCA	0.602													A	148801229	G	A	148801229	2	1	25	1	0	0	0	0	0	0	0	1	17896	1136	40	1		1	ZNF425	7	148801229	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2329806	148801229	10337434	545	22981											
ZNF862	643641	broad.mit.edu	37	chr7	149545202	149545202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctgtgtcaatgccttggCagcgagggaccccatctggg	14	11	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:149545202C>T	uc010lpn.2	+	4	812	c.620C>T	c.(619-621)GCA>GTA	p.A207V	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	207	TTF-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						AATGCCTTGGCAGCGAGGGAC	0.572													T	149545202	C	T	149545202	3	4	25	1	0	0	0	0	1	0	0	0	18192	710	25	2	634	2	ZNF862	7	149545202	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	743973	149545202	9593461	546	22982											
ABCB8	11194	broad.mit.edu	37	chr7	150730745	150730745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggccgtggcccacctgcGgtcccagctctgggcccacc	13	20	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:150730745G>A	uc003wil.3	+	3	293	c.200G>A	c.(199-201)CGG>CAG	p.R67Q	ABCB8_uc003wii.2_Missense_Mutation_p.R87Q|ABCB8_uc003wij.3_Missense_Mutation_p.R50Q|ABCB8_uc010lpw.1_Intron|ABCB8_uc010lpx.2_Missense_Mutation_p.R50Q|ABCB8_uc011kvd.1_Intron|ABCB8_uc003wim.3_Intron|ABCB8_uc003wik.3_Missense_Mutation_p.R50Q	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	67						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCCACCTGCGGTCCCAGCTC	0.677													A	150730745	G	A	150730745	3	1	25	1	0	0	0	0	1	0	0	0	47	1116	39	1	155	1	ABCB8	7	150730745	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1185543	150730745	8407918	547	22983											
AGAP3	116988	broad.mit.edu	37	chr7	150839596	150839596	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacctgtcccgggtgcgctcCcttgacctcgatgactggcc	11	17	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:150839596C>G	uc003wjg.1	+	16	2151	c.2148C>G	c.(2146-2148)TCC>TCG	p.S716S	AGAP3_uc003wje.1_Silent_p.S385S|AGAP3_uc003wjj.1_Silent_p.S215S|AGAP3_uc003wjk.1_Silent_p.S134S	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	680	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3						GGGTGCGCTCCCTTGACCTCG	0.642													G	150839596	C	G	150839596	2	3	25	1	0	0	0	0	0	0	0	1	369	610	22	5		5	AGAP3	7	150839596	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	108851	150839596	8299067	548	22984											
CRYGN	155051	broad.mit.edu	37	chr7	151135151	151135151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaagaagtcggggtagtcGccgtgctccaagatgaactg	15	9	0	3	rs139524541		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:151135151G>A	uc003wke.2	-	2	297	c.201C>T	c.(199-201)GGC>GGT	p.G67G	CRYGN_uc003wkf.2_Silent_p.G67G|CRYGN_uc003wkg.2_RNA|CRYGN_uc010lqd.1_5'Flank	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	gammaN-crystallin	67	Beta/gamma crystallin 'Greek key' 2.										0			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGGGTAGTCGCCGTGCTCCA	0.607													A	151135151	G	A	151135151	2	1	25	1	0	0	0	0	0	0	0	1	3918	1074	38	1		1	CRYGN	7	151135151	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	295555	151135151	8003512	549	22985											
RNF32	140545	broad.mit.edu	37	chr7	156436577	156436577	+	Frame_Shift_Del	DEL	A	A	-													ttttcctaattcggcatgttAaaaaataaggtacgctattc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:156436576_156436576TA>T	uc003wmo.3	+	1	235	c.5_5TA>T	c.(4-6)ttafs	p.L2fs	RNF32_uc010lql.1_Non-coding_Transcript|RNF32_uc010lqm.3_Frame_Shift_Del_p.L2fs|RNF32_uc003wmq.3_Frame_Shift_Del_p.L2fs|RNF32_uc003wmr.3_Frame_Shift_Del_p.L2fs|RNF32_uc003wms.3_Frame_Shift_Del_p.L2fs|RNF32_uc003wmu.3_Non-coding_Transcript|RNF32_uc003wmt.3_Frame_Shift_Del_p.L2fs	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.	2						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TTCGGCATGTTAAAAAATAAG	0.338													-	156436577	A	-	156436577	7	5	25	1	0	1	0	1	0	0	0	0	13488	359	13	0	8	0	RNF32	7	156436577	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	5301426	156436577	2702086	550	22986											
PTPRN2	5799	broad.mit.edu	37	chr7	157931052	157931052	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctccagactctcccagggCcgctctcccagggctgcctc	9	19	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:157931052C>A	uc003wno.2	-	7	1187	c.1066G>T	c.(1066-1068)GCC>TCC	p.A356S	PTPRN2_uc003wnp.2_Missense_Mutation_p.A339S|PTPRN2_uc003wnq.2_Missense_Mutation_p.A356S|PTPRN2_uc003wnr.2_Missense_Mutation_p.A318S|PTPRN2_uc011kwa.1_Missense_Mutation_p.A379S	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	356	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCTCCCAGGGCCGCTCTCCCA	0.672													A	157931052	C	A	157931052	3	1	25	1	0	0	0	0	1	0	0	0	12808	739	26	5	2049	5	PTPRN2	7	157931052	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1494475	157931052	1207611	551	22987											
WDR60	55112	broad.mit.edu	37	chr7	158738447	158738447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgcaggaagccctgtggCcagagggaaaactgcacaag	13	9	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:158738447C>T	uc003woe.3	+	25	3336	c.3178C>T	c.(3178-3180)CCA>TCA	p.P1060S	WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Missense_Mutation_p.P692S	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	1060										ovary(2)|breast(1)|central_nervous_system(1)	4	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AGCCCTGTGGCCAGAGGGAAA	0.552													T	158738447	C	T	158738447	3	4	25	1	0	0	0	0	1	0	0	0	17308	739	26	2	3276	2	WDR60	7	158738447	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	807395	158738447	400216	552	22988											
MYOM2	9172	broad.mit.edu	37	chr8	2040280	2040280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggacctgctgggctactaCgtggactgctgtgtggccgg	17	10	0	0	rs112566516		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:2040280C>T	uc003wpx.3	+	16	2073	c.1935C>T	c.(1933-1935)TAC>TAT	p.Y645Y	MYOM2_uc011kwi.1_Silent_p.Y70Y	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	645	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGGGCTACTACGTGGACTGCT	0.622													T	2040280	C	T	2040280	2	4	25	1	0	0	0	0	0	0	0	1	10092	547	19	1		1	MYOM2	8	2040280	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08		2040280	144323742	553	22989											
MFHAS1	9258	broad.mit.edu	37	chr8	8654933	8654933	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccaaggcaacatttactcGctcgctgccgttcttggggc	10	13	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:8654933G>A	uc003wsj.1	-	2	3630	c.3067C>T	c.(3067-3069)CGA>TGA	p.R1023*		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	1023											0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		ACATTTACTCGCTCGCTGCCG	0.572													A	8654933	G	A	8654933	4	1	25	1	0	0	0	0	0	1	0	0	9521	1095	38	1	99	1	MFHAS1	8	8654933	Nonsense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	6614653	8654933	137709089	554	22990											
RP1L1	94137	broad.mit.edu	37	chr8	10470311	10470311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccacaggccactgcagcGgacgtgctgggccagtcccc	13	18	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:10470311G>A	uc003wtc.2	-	4	1526	c.1297C>T	c.(1297-1299)CGC>TGC	p.R433C		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	433					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CCACTGCAGCGGACGTGCTGG	0.682													A	10470311	G	A	10470311	3	1	25	1	0	0	0	0	1	0	0	0	13533	1116	39	1	5909	1	RP1L1	8	10470311	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1815378	10470311	135893711	555	22991											
C8orf74	203076	broad.mit.edu	37	chr8	10555303	10555303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccacctggaggtgtgcAtgccaccccatcccctcccg	9	19	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:10555303A>G	uc003wtd.1	+	3	465	c.436A>G	c.(436-438)ATG>GTG	p.M146V	C8orf74_uc003wte.1_RNA	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	hypothetical protein LOC203076	146											0				COAD - Colon adenocarcinoma(149;0.0811)		GGAGGTGTGCATGCCACCCCA	0.632													G	10555303	A	G	10555303	3	3	25	1	0	0	0	0	1	0	0	0	2436	217	8	3	446	3	C8orf74	8	10555303	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	84992	10555303	135808719	556	22992											
SOX7	83595	broad.mit.edu	37	chr8	10583952	10583952	+	Frame_Shift_Del	DEL	C	C	-													gtcctccttctcccccagcgCcccccggctgccgcttctct							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:10583951_10583951GC>G	uc011kwz.2	-	5	653	c.620_620GC>C	c.(619-621)gcgfs	p.A207fs	BC043573_uc003wtg.1_5'Flank|SOX7_uc003wtf.3_Frame_Shift_Del_p.A155fs	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	155					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CTCCCCCAGCGCCCCCCGGCT	0.731													-	10583952	C	-	10583952	7	5	25	1	0	1	0	1	0	0	0	0	14956	739	26	0	707	0	SOX7	8	10583952	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	28649	10583952	135780070	557	22993											
XKR6	286046	broad.mit.edu	37	chr8	10756078	10756078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacattcgatatcgagtcCgcccttccttgacgttaaac	6	13	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:10756078C>T	uc003wtk.1	-	3	1337	c.1310G>A	c.(1309-1311)CGG>CAG	p.R437Q		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	437						integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		ATATCGAGTCCGCCCTTCCTT	0.478													T	10756078	C	T	10756078	3	4	25	1	0	0	0	0	1	0	0	0	17432	652	23	1	619	1	XKR6	8	10756078	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	172126	10756078	135607944	558	22994											
MTMR9	66036	broad.mit.edu	37	chr8	11180273	11180273	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggcagaactggaaacagaGgacgggatgcaggagagtcc	16	7	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:11180273G>T	uc003wtm.2	+	10	2024	c.1626G>T	c.(1624-1626)GAG>GAT	p.E542D	MTMR9_uc010lrx.2_Missense_Mutation_p.E435D|MTMR9_uc011kxa.1_Missense_Mutation_p.E457D|uc003wtn.1_5'Flank|uc003wto.1_Intron	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	542						cytoplasm	phosphatase activity|protein binding				0			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		TGGAAACAGAGGACGGGATGC	0.468													T	11180273	G	T	11180273	3	4	25	1	0	0	0	0	1	0	0	0	9950	991	35	5	1664	5	MTMR9	8	11180273	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	424195	11180273	135183749	559	22995											
NAT2	10	broad.mit.edu	37	chr8	18257858	18257858	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgcaggtgaccattgaCggcaggaattacattgtcga	11	10	0	2	rs45532639	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:18257858C>T	uc003wyw.1	+	2	452	c.345C>T	c.(343-345)GAC>GAT	p.D115D		NM_000015	NP_000006	P11245	ARY2_HUMAN	N-acetyltransferase 2	115					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			ovary(1)|skin(1)	2				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TGACCATTGACGGCAGGAATT	0.488									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				T	18257858	C	T	18257858	2	4	25	1	0	0	0	0	0	0	0	1	10177	535	19	1		1	NAT2	8	18257858	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	7077585	18257858	128106164	560	22996											
DOK2	9046	broad.mit.edu	37	chr8	21769786	21769786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacccagtcgccgcgctccGctgcaggggccgccaggagg	16	17	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:21769786G>A	uc003wzy.1	-	2	392	c.299C>T	c.(298-300)GCG>GTG	p.A100V	DOK2_uc003wzx.1_Missense_Mutation_p.A100V|DOK2_uc003wzz.1_5'UTR|DOK2_uc010lth.1_Intron	NM_003974	NP_003965	O60496	DOK2_HUMAN	docking protein 2	100	PH.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding				0				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GCCGCGCTCCGCTGCAGGGGC	0.726													A	21769786	G	A	21769786	3	1	25	1	0	0	0	0	1	0	0	0	4697	1087	38	1	955	1	DOK2	8	21769786	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3511928	21769786	124594236	561	22997											
FAM160B2	64760	broad.mit.edu	37	chr8	21960389	21960389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccattgccttcgtcaagtttCccccacatgatcctcgccag	6	17	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:21960389C>T	uc011kyx.1	+	17	2230	c.2179C>T	c.(2179-2181)CCC>TCC	p.P727S	FAM160B2_uc011kyy.1_RNA	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	retinoic acid induced 16	727											0						CGTCAAGTTTCCCCCACATGA	0.652													T	21960389	C	T	21960389	3	4	25	1	0	0	0	0	1	0	0	0	5471	855	30	4	2044	4	FAM160B2	8	21960389	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	190603	21960389	124403633	562	22998											
HR	55806	broad.mit.edu	37	chr8	21983112	21983112	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctccgcacttgctgagaGtggcaggcgtgccctcctcc	11	17	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:21983112G>A	uc003xas.2	-	4	2204	c.1539C>T	c.(1537-1539)CAC>CAT	p.H513H	HR_uc003xat.2_Silent_p.H513H	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	513							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTTGCTGAGAGTGGCAGGCGT	0.647													A	21983112	G	A	21983112	2	1	25	1	0	0	0	0	0	0	0	1	7347	1020	36	4		4	HR	8	21983112	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	22723	21983112	124380910	563	22999											
LOXL2	4017	broad.mit.edu	37	chr8	23190950	23190950	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccggaatcttgagggtccGtcagggctgaagacctgccc	13	12	2	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:23190950G>A	uc003xdh.1	-	5	1269	c.930C>T	c.(928-930)GAC>GAT	p.D310D	uc003xdj.2_5'Flank|uc003xdi.2_5'Flank	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	310					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TTGAGGGTCCGTCAGGGCTGA	0.627													A	23190950	G	A	23190950	2	1	25	1	0	0	0	0	0	0	0	1	8900	1136	40	1		1	LOXL2	8	23190950	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1207838	23190950	123173072	564	23000											
ADAM7	8756	broad.mit.edu	37	chr8	24333950	24333950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatttatatttccagtatcGcagaaatggtcatcctcaca	5	9	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:24333950G>A	uc003xeb.2	+	8	751	c.638G>A	c.(637-639)CGC>CAC	p.R213H	ADAM7_uc003xec.2_5'UTR	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	213	Peptidase M12B.|Extracellular (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)		ttCCAGTATCGCAGAAATGGT	0.289													A	24333950	G	A	24333950	3	1	25	1	0	0	0	0	1	0	0	0	251	1087	38	1	668	1	ADAM7	8	24333950	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1143000	24333950	122030072	565	23001											
NEFM	4741	broad.mit.edu	37	chr8	24771772	24771772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtacgaccaggagatccgcGagctgcgcgccaccctggag	14	15	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:24771772G>A	uc003xed.3	+	1	499	c.466G>A	c.(466-468)GAG>AAG	p.E156K	NEFM_uc011lac.1_Missense_Mutation_p.E156K|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	156	Rod.|Coil 1B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGAGATCCGCGAGCTGCGCGC	0.647													A	24771772	G	A	24771772	3	1	25	1	0	0	0	0	1	0	0	0	10316	1059	37	1	468	1	NEFM	8	24771772	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	437822	24771772	121592250	566	23002											
KCTD9	54793	broad.mit.edu	37	chr8	25290076	25290076	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttacagttcttcaactttgCattttttaaggtagccactc	6	9	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:25290076C>G	uc003xeo.2	-	11	1155	c.997G>C	c.(997-999)GCA>CCA	p.A333P	PPP2R2A_uc003xek.2_Intron|KCTD9_uc011lad.1_RNA	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	potassium channel tetramerisation domain	333	Pentapeptide repeat 2.					voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		TTCAACTTTGCATTTTTTAAG	0.403													G	25290076	C	G	25290076	3	3	25	1	0	0	0	0	1	0	0	0	8116	710	25	5	180	5	KCTD9	8	25290076	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	518304	25290076	121073946	567	23003											
CDCA2	157313	broad.mit.edu	37	chr8	25365223	25365223	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctctgactgccttggaaaGgattgaacataatggagaaa	10	7	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:25365223G>T	uc003xep.1	+	15	3520	c.3041G>T	c.(3040-3042)AGG>ATG	p.R1014M	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.R999M|CDCA2_uc003xer.1_Missense_Mutation_p.R677M	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	1014					cell division|mitosis	cytoplasm|nucleus					0		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GCCTTGGAAAGGATTGAACAT	0.433													T	25365223	G	T	25365223	3	4	25	1	0	0	0	0	1	0	0	0	3086	1000	35	5	3095	5	CDCA2	8	25365223	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	75147	25365223	120998799	568	23004											
FZD3	7976	broad.mit.edu	37	chr8	28413451	28413451	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatccacagcaaagtgagcAgctaccacggcagcctccac	9	16	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:28413451A>G	uc003xgx.2	+	7	2228	c.1750A>G	c.(1750-1752)AGC>GGC	p.S584G	FZD3_uc010lvb.2_Missense_Mutation_p.S584G	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3 precursor	584	Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		CAAAGTGAGCAGCTACCACGG	0.448													G	28413451	A	G	28413451	3	3	25	1	0	0	0	0	1	0	0	0	6131	188	7	3	1768	3	FZD3	8	28413451	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	3048228	28413451	117950571	569	23005											
KIF13B	23303	broad.mit.edu	37	chr8	28989881	28989881	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaaatcccacagggcgggGtttttccggggatcgtttat	12	11	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:28989881G>T	uc003xhh.3	-	23	2945	c.2886C>A	c.(2884-2886)AAC>AAA	p.N962K	uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	962					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ACAGGGCGGGGTTTTTCCGGG	0.398													T	28989881	G	T	28989881	3	4	25	1	0	0	0	0	1	0	0	0	8275	1252	44	5	2666	5	KIF13B	8	28989881	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	576430	28989881	117374141	570	23006											
TEX15	56154	broad.mit.edu	37	chr8	30700994	30700994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtcctgttttcctggatacGaatgaactttaggagagtcc	11	8	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:30700994G>A	uc003xil.2	-	1	5540	c.5540C>T	c.(5539-5541)TCG>TTG	p.S1847L		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1847										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCCTGGATACGAATGAACTTT	0.348													A	30700994	G	A	30700994	3	1	25	1	0	0	0	0	1	0	0	0	15776	1059	37	1	2845	1	TEX15	8	30700994	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1711113	30700994	115663028	571	23007											
KCNU1	157855	broad.mit.edu	37	chr8	36766851	36766851	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acgaactggcaagtcaaagtAtaagtttcggaaccatattg	9	7	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:36766851A>T	uc010lvw.2	+	21	2216	c.2129A>T	c.(2128-2130)TAT>TTT	p.Y710F	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	710	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AAGTCAAAGTATAAGTTTCGG	0.468													T	36766851	A	T	36766851	3	4	25	1	0	0	0	0	1	0	0	0	8093	449	16	5	2211	5	KCNU1	8	36766851	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	6065857	36766851	109597171	572	23008											
GOT1L1	137362	broad.mit.edu	37	chr8	37792610	37792610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttgagtccaagatagccGtgggtcccactctgctcggt	12	12	1	2	rs146808588	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:37792610G>A	uc011lbj.1	-	8	1153	c.1053C>T	c.(1051-1053)CAC>CAT	p.H351H		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	351					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			ovary(1)	1	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			CAAGATAGCCGTGGGTCCCAC	0.527													A	37792610	G	A	37792610	2	1	25	1	0	0	0	0	0	0	0	1	6580	1136	40	1		1	GOT1L1	8	37792610	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1025759	37792610	108571412	573	23009											
WHSC1L1	54904	broad.mit.edu	37	chr8	38146945	38146946	+	Frame_Shift_Ins	INS	-	-	T													gggagggggttttcttgagtINSttttttcaatctctagggct							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:38146944_38146945G>GT	uc003xli.3	-	17	3715_3716	c.3197_3198C>AC	c.(3196-3198)aacfs	p.N1066fs	WHSC1L1_uc011lbm.2_Frame_Shift_Ins_p.N1066fs|WHSC1L1_uc010lwe.3_Frame_Shift_Ins_p.N1017fs	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	1066					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GTTTTCTTGAGTTTTTTTCAAT	0.371			T	NUP98	AML								T	38146946	-	T	38146945	7	5	25	1	0	1	1	0	0	0	0	0	17360	1725	60	0	1144	0	WHSC1L1	8	38146945	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	354335	38146945	108217077	574	23010											
ADAM2	2515	broad.mit.edu	37	chr8	39624771	39624771	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctccaataagggcacaatcCtgtaaggcaaatcaaatgct	7	10	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:39624771C>A	uc003xnj.2	-	13	1288	c.1213_splice	c.e13-1	p.D405_splice	ADAM2_uc003xnk.2_Splice_Site_p.D386_splice|ADAM2_uc011lck.1_Splice_Site_p.D405_splice|ADAM2_uc003xnl.2_Splice_Site_p.D279_splice	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein						cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GGGCACAATCCTGTAAGGCAA	0.383													A	39624771	C	A	39624771	5	1	25	1	0	0	0	0	0	0	1	0	241	695	24	5	1027	5	ADAM2	8	39624771	Splice_Site	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1477826	39624771	106739251	575	23011											
IKBKB	3551	broad.mit.edu	37	chr8	42129709	42129709	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggatttggaaatgtcatcCgatggcacaatcaggtaggc	14	7	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:42129709C>T	uc003xow.1	+	2	268	c.91C>T	c.(91-93)CGA>TGA	p.R31*	IKBKB_uc003xov.2_Nonsense_Mutation_p.R31*|IKBKB_uc010lxh.1_Missense_Mutation_p.P20L|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Silent_p.S3S|IKBKB_uc003xox.1_5'UTR|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Intron|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Silent_p.S3S	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	31	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	AAATGTCATCCGATGGCACAA	0.597													T	42129709	C	T	42129709	4	4	25	1	0	0	0	0	0	1	0	0	7611	644	23	1	93	1	IKBKB	8	42129709	Nonsense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2504938	42129709	104234313	576	23012											
PXDNL	137902	broad.mit.edu	37	chr8	52321597	52321597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgcggggctggagcgcgCgaagagcatgcagggcgcgt	19	11	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:52321597C>T	uc003xqu.3	-	17	2688	c.2587G>A	c.(2587-2589)GCG>ACG	p.A863T	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	863					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGGAGCGCGCGAAGAGCATG	0.667													T	52321597	C	T	52321597	3	4	25	1	0	0	0	0	1	0	0	0	12848	768	27	1	1832	1	PXDNL	8	52321597	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	10191888	52321597	94042425	577	23013											
ST18	9705	broad.mit.edu	37	chr8	53071553	53071553	+	Frame_Shift_Del	DEL	G	G	-													ggcagcagctgctgctatgtGggtgtcttcactacattgac							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:53071552_53071552TG>T	uc003xqz.2	-	9	1868	c.1712_1712CA>A	c.(1711-1713)cacfs	p.H571fs	ST18_uc011ldq.1_Frame_Shift_Del_p.H218fs|ST18_uc011ldr.1_Frame_Shift_Del_p.H536fs|ST18_uc011lds.1_Frame_Shift_Del_p.H476fs|ST18_uc003xra.2_Frame_Shift_Del_p.H571fs|ST18_uc003xrb.2_Frame_Shift_Del_p.H571fs	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	571						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGCTGCTATGTGGGTGTCTTC	0.567													-	53071553	G	-	53071553	7	5	25	1	0	1	0	1	0	0	0	0	15211	1348	47	0	1480	0	ST18	8	53071553	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	749956	53071553	93292469	578	23014											
SOX17	64321	broad.mit.edu	37	chr8	55372549	55372549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattactgcaactatcctgaCgtgtgacaggtccctgatcc	8	12	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:55372549C>T	uc003xsb.3	+	2	1443	c.1239C>T	c.(1237-1239)GAC>GAT	p.D413D		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	413	Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			ACTATCCTGACGTGTGACAGG	0.577													T	55372549	C	T	55372549	2	4	25	1	0	0	0	0	0	0	0	1	14947	535	19	1		1	SOX17	8	55372549	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2300996	55372549	90991473	579	23015											
RP1	6101	broad.mit.edu	37	chr8	55540279	55540279	+	Frame_Shift_Del	DEL	T	T	-													acatgtaaccccagtgacacTttttttcctagtgatggtta							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:55540278_55540278CT>C	uc003xsd.1	+	3	3984	c.3836_3836CT>C	c.(3835-3837)actfs	p.T1279fs	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1279					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCCAGTGACACTTTTTTTCCT	0.418													-	55540279	T	-	55540279	7	5	25	1	0	1	0	1	0	0	0	0	13532	1596	56	0	3847	0	RP1	8	55540279	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	167730	55540279	90823743	580	23016											
RP1	6101	broad.mit.edu	37	chr8	55542107	55542107	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgatgctattaaaaacCaaccattgcctggcagtaat	7	9	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:55542107C>T	uc003xsd.1	+	4	5813	c.5665C>T	c.(5665-5667)CAA>TAA	p.Q1889*	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1889					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATTAAAAACCAACCATTGCC	0.408													T	55542107	C	T	55542107	4	4	25	1	0	0	0	0	0	1	0	0	13532	595	21	4	5675	4	RP1	8	55542107	Nonsense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1828	55542107	90821915	581	23017											
BHLHE22	27319	broad.mit.edu	37	chr8	65494237	65494237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactacatcctcatgcaggCgcaggccctggaggagatgc	13	12	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:65494237C>T	uc003xvi.2	+	1	1424	c.890C>T	c.(889-891)GCG>GTG	p.A297V	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	297	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						CTCATGCAGGCGCAGGCCCTG	0.682													T	65494237	C	T	65494237	3	4	25	1	0	0	0	0	1	0	0	0	1421	768	27	1	892	1	BHLHE22	8	65494237	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	9952130	65494237	80869785	582	23018											
SGK3	23678	broad.mit.edu	37	chr8	67763157	67763157	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accatttaatcctaatgtggTaagtatatatccaaatcttt	4	7	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:67763157T>C	uc003xwr.2	+	16	1619	c.1320_splice	c.e16+2	p.V440_splice	SGK3_uc003xwp.2_Splice_Site_p.V434_splice|SGK3_uc003xwt.2_Splice_Site_p.V440_splice|SGK3_uc003xwu.2_Splice_Site_p.V408_splice	NM_001033578	NP_001028750	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase 3 isoform						cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			ovary(1)|large_intestine(1)|lung(1)|breast(1)	4	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CCTAATGTGGTAAGTATATAT	0.338													C	67763157	T	C	67763157	5	2	25	1	0	0	0	0	0	0	1	0	14212	1652	57	3	1380	3	SGK3	8	67763157	Splice_Site	SNP	T	TCGA-BR-4370-01A-01D-1158-08	2268920	67763157	78600865	583	23019											
LRRC67	286187	broad.mit.edu	37	chr8	67929861	67929861	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagttcttacaattgcaTctatatttttgtctgaaaaa	4	6	4	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:67929861T>C	uc003xxc.2	-	2	267	c.122A>G	c.(121-123)GAT>GGT	p.D41G		NM_001013626	NP_001013648	Q7Z4L9	LRC67_HUMAN	leucine rich repeat containing 67	41	LRR 1.										0						TACAATTGCATCTATATTTTT	0.259													C	67929861	T	C	67929861	3	2	25	1	0	0	0	0	1	0	0	0	9019	1435	50	3	584	3	LRRC67	8	67929861	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	166704	67929861	78434161	584	23020											
ARFGEF1	10565	broad.mit.edu	37	chr8	68138302	68138302	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcacaatggcgaataagtcGaattgcttccatacttgtgt	9	8	0	0	rs146133956		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:68138302G>A	uc003xxo.1	-	28	4423	c.4033C>T	c.(4033-4035)CGA>TGA	p.R1345*	ARFGEF1_uc003xxl.1_Nonsense_Mutation_p.R799*|ARFGEF1_uc003xxn.1_Nonsense_Mutation_p.R328*	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1345					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CGAATAAGTCGAATTGCTTCC	0.393													A	68138302	G	A	68138302	4	1	25	1	0	0	0	0	0	1	0	0	852	1066	37	1	1564	1	ARFGEF1	8	68138302	Nonsense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	208441	68138302	78225720	585	23021											
SULF1	23213	broad.mit.edu	37	chr8	70570765	70570765	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttatgggatggatgggaaGgttaatcagccccgtctcac	13	8	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:70570765G>T	uc010lza.1	+	23	3328	c.2611G>T	c.(2611-2613)GGT>TGT	p.G871C	SULF1_uc003xyd.2_Missense_Mutation_p.G871C|SULF1_uc003xye.2_Missense_Mutation_p.G871C|SULF1_uc003xyf.2_Missense_Mutation_p.G871C|SULF1_uc003xyg.2_Missense_Mutation_p.G871C|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_Missense_Mutation_p.K17N|SULF1_uc003xyj.1_Missense_Mutation_p.K17N	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	871					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TGGATGGGAAGGTTAATCAGC	0.438													T	70570765	G	T	70570765	3	4	25	1	0	0	0	0	1	0	0	0	15369	1000	35	5	2685	5	SULF1	8	70570765	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2432463	70570765	75793257	586	23022											
JPH1	56704	broad.mit.edu	37	chr8	75227703	75227703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcggcggcggctgcggcgtCgtggagcacgctgccattgc	18	13	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:75227703C>T	uc003yae.2	-	2	572	c.532G>A	c.(532-534)GAC>AAC	p.D178N	JPH1_uc003yaf.2_Missense_Mutation_p.D178N|JPH1_uc003yag.1_Missense_Mutation_p.D42N	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	178	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GCTGCGGCGTCGTGGAGCACG	0.706													T	75227703	C	T	75227703	3	4	25	1	0	0	0	0	1	0	0	0	7960	884	31	1	1469	1	JPH1	8	75227703	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	4656938	75227703	71136319	587	23023											
IMPA1	3612	broad.mit.edu	37	chr8	82586109	82586109	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacttgtagtttttgaccatTacaaaaggcaccttttcctt	5	9	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:82586109T>C	uc003ych.2	-	6	551	c.424A>G	c.(424-426)AAT>GAT	p.N142D	IMPA1_uc011lfq.1_Missense_Mutation_p.N201D|IMPA1_uc011lfr.1_Missense_Mutation_p.N142D	NM_005536	NP_005527	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1 isoform	142					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			skin(1)	1					Lithium(DB01356)	TTTTGACCATTACAAAAGGCA	0.333													C	82586109	T	C	82586109	3	2	25	1	0	0	0	0	1	0	0	0	7722	1754	61	3	425	3	IMPA1	8	82586109	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	7358406	82586109	63777913	588	23024											
NBN	4683	broad.mit.edu	37	chr8	90965666	90965666	+	Frame_Shift_Del	DEL	T	T	-													ggccacatcatccatttcccTttttttatttgatcttagct							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:90965665_90965665CT>C	uc003yej.1	-	10	1762	c.1652_1652AG>G	c.(1651-1653)aggfs	p.R551fs	NBN_uc011lgb.1_Frame_Shift_Del_p.R551fs|NBN_uc003yei.1_Frame_Shift_Del_p.R469fs	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	551					DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATCCATTTCCCTTTTTTTATT	0.323								Homologous recombination					-	90965666	T	-	90965666	7	5	25	1	0	1	0	1	0	0	0	0	10191	1608	56	0	637	0	NBN	8	90965666	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	8379557	90965666	55398356	589	23025											
INTS8	55656	broad.mit.edu	37	chr8	95848830	95848830	+	Frame_Shift_Del	DEL	T	T	-													atgaaaatgccagggaaaaaTtttttagaaccaaagaacta							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:95848829_95848829AT>A	uc003yhb.3	+	6	957	c.831_831AT>A	c.(829-831)aaafs	p.K277fs	INTS8_uc003yha.1_Frame_Shift_Del_p.K277fs|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Frame_Shift_Del_p.K104fs	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	277					snRNA processing	integrator complex	protein binding	p.K277N(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					CCAGGGAAAAATTTTTTAGAA	0.348													-	95848830	T	-	95848830	7	5	25	1	0	1	0	1	0	0	0	0	7784	1493	52	0	858	0	INTS8	8	95848830	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	4883164	95848830	50515192	590	23026											
TSPYL5	85453	broad.mit.edu	37	chr8	98289664	98289665	+	Frame_Shift_Ins	INS	-	-	G													ccacgccggtttccaacgcgINSgggggcatttttcggccttc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:98289663_98289664C>CG	uc003yhy.3	-	0	513_514	c.409_410G>CG	c.(409-411)cgcfs	p.R137fs		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	Homo sapiens TSPY-like 5 (TSPYL5), mRNA.	137					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GTTTCCAACGCGGGGGGCATTT	0.673													G	98289665	-	G	98289664	7	5	25	1	0	1	1	0	0	0	0	0	16659	1116	39	0	848	0	TSPYL5	8	98289664	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	2440834	98289664	48074358	591	23027											
POP1	10940	broad.mit.edu	37	chr8	99148887	99148887	+	Frame_Shift_Del	DEL	A	A	-													gagaaaatgctaaaccaattAaaaaaattatcggtgatgga							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:99148886_99148886TA>T	uc003yij.4	+	7	1288	c.1188_1188TA>T	c.(1186-1188)attfs	p.I396fs	POP1_uc011lgv.2_Frame_Shift_Del_p.I396fs|POP1_uc003yik.3_Frame_Shift_Del_p.I396fs	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	396					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CTAAACCAATTAAAAAAATTA	0.368													-	99148887	A	-	99148887	7	5	25	1	0	1	0	1	0	0	0	0	12251	363	13	0	1215	0	POP1	8	99148887	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	859223	99148887	47215135	592	23028											
POP1	10940	broad.mit.edu	37	chr8	99149090	99149090	+	Missense_Mutation	SNP	G	G	A													gatgttctttctttttcagcGatttgacgatggagatgaac							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:99149090G>A	uc003yij.3	+	9	1370	c.1270G>A	c.(1270-1272)GAT>AAT	p.D424N	POP1_uc011lgv.1_Missense_Mutation_p.D424N|POP1_uc003yik.2_Missense_Mutation_p.D424N	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	424					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CTTTTTCAGCGATTTGACGAT	0.423													A	99149090	G	A	99149090	3	1	25	1	0	0	0	0	1	0	0	0	12251	1072	37	1	1300	1	POP1	8	99149090	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	203	99149090	47214932	593	23029	77	2									
POP1	10940	broad.mit.edu	37	chr8	99149097	99149097	+	Missense_Mutation	SNP	C	C	T													tttctttttcagcgatttgaCgatggagatgaacagattcc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:99149097C>T	uc003yij.3	+	9	1377	c.1277C>T	c.(1276-1278)ACG>ATG	p.T426M	POP1_uc011lgv.1_Missense_Mutation_p.T426M|POP1_uc003yik.2_Missense_Mutation_p.T426M	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	426					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AGCGATTTGACGATGGAGATG	0.413													T	99149097	C	T	99149097	3	4	25	1	0	0	0	0	1	0	0	0	12251	536	19	1	1307	1	POP1	8	99149097	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	7	99149097	47214925	594	23030	77	2									
KCNS2	3788	broad.mit.edu	37	chr8	99441361	99441361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgtggtcccagggaccaCggcaggaaagctgactgcct	15	11	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:99441361C>T	uc003yin.2	+	2	1504	c.1154C>T	c.(1153-1155)ACG>ATG	p.T385M		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	385	Extracellular (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CCAGGGACCACGGCAGGAAAG	0.597													T	99441361	C	T	99441361	3	4	25	1	0	0	0	0	1	0	0	0	8089	536	19	1	1156	1	KCNS2	8	99441361	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	292264	99441361	46922661	595	23031											
UBR5	51366	broad.mit.edu	37	chr8	103297394	103297394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaagctagcttcttctcgcGcagtcatcctctctcttctc	6	15	6	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:103297394G>A	uc003ykr.1	-	40	5690	c.5657C>T	c.(5656-5658)GCG>GTG	p.A1886V	UBR5_uc003yks.1_Missense_Mutation_p.A1886V	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1886					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTCTTCTCGCGCAGTCATCCT	0.403													A	103297394	G	A	103297394	3	1	25	1	0	0	0	0	1	0	0	0	16902	1087	38	1	2822	1	UBR5	8	103297394	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3856033	103297394	43066628	596	23032											
FZD6	8323	broad.mit.edu	37	chr8	104342161	104342161	+	Frame_Shift_Del	DEL	C	C	-													gaaagcggacggagctagcaCccccaggttaagagaacagg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:104342160_104342160AC>A	uc003ylh.3	+	5	2109	c.1819_1819AC>A	c.(1819-1821)accfs	p.T607fs	FZD6_uc011lhn.2_Frame_Shift_Del_p.T575fs|FZD6_uc003ylj.3_Frame_Shift_Del_p.T607fs|FZD6_uc011lho.2_Frame_Shift_Del_p.T302fs|FZD6_uc011lhp.2_Frame_Shift_Del_p.T552fs	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	607					G-protein signaling, coupled to cGMP nucleotide second messenger|angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			CGGAGCTAGCACCCCCAGGTT	0.527													-	104342161	C	-	104342161	7	5	25	1	0	1	0	1	0	0	0	0	6134	507	18	0	1838	0	FZD6	8	104342161	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	1044767	104342161	42021861	597	23033											
DCAF13	25879	broad.mit.edu	37	chr8	104432678	104432678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctactgtcctttctggggCgtgtgatggagaggcaagtg	17	7	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:104432678C>T	uc003yln.2	+	2	990	c.713C>T	c.(712-714)GCG>GTG	p.A238V	DCAF13_uc003ylm.1_Intron|DCAF13_uc003ylo.2_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	86	WD 1.			A -> S (in Ref. 3; AAH26067).	rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						CTTTCTGGGGCGTGTGATGGA	0.403													T	104432678	C	T	104432678	3	4	25	1	0	0	0	0	1	0	0	0	4266	768	27	1	719	1	DCAF13	8	104432678	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	90517	104432678	41931344	598	23034											
OXR1	55074	broad.mit.edu	37	chr8	107758067	107758067	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttatcaaaggagacatggaTtcactagctttcggtggtgg	12	6	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:107758067T>C	uc011lht.1	+	15	2565	c.2466T>C	c.(2464-2466)GAT>GAC	p.D822D	OXR1_uc003ymf.2_Silent_p.D794D|OXR1_uc011lhu.1_Silent_p.D787D|OXR1_uc010mcg.2_RNA|OXR1_uc010mch.2_Silent_p.D450D|OXR1_uc003ymk.2_Silent_p.D191D|OXR1_uc003yml.2_Silent_p.D164D	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	822	TLD.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GAGACATGGATTCACTAGCTT	0.279													C	107758067	T	C	107758067	2	2	25	1	0	0	0	0	0	0	0	1	11334	1490	52	3		3	OXR1	8	107758067	Silent	SNP	T	TCGA-BR-4370-01A-01D-1158-08	3325389	107758067	38605955	599	23035											
MTBP	27085	broad.mit.edu	37	chr8	121514828	121514829	+	Frame_Shift_Ins	INS	-	-	A													caaaatttggaaacttttgaINSaaaaactaaacaaaaaatga							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:121514827_121514828G>GA	uc003ypc.1	+	14	1750_1751	c.1705_1706G>GA	c.(1705-1707)gaafs	p.E569fs		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.	569	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GGAAACTTTTGAAAAAACTAAA	0.292													A	121514829	-	A	121514828	7	5	25	1	0	1	1	0	0	0	0	0	9912	246	9	0	1764	0	MTBP	8	121514828	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	13756761	121514828	24849194	600	23036											
WDR67	93594	broad.mit.edu	37	chr8	124140619	124140619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgacattcatccagacagCatgcttaatgtttttgttgc	7	9	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:124140619C>T	uc003ypp.1	+	14	2073	c.1983C>T	c.(1981-1983)AGC>AGT	p.S661S	WDR67_uc011lig.1_Silent_p.S661S|WDR67_uc011lih.1_Silent_p.S551S|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Intron|WDR67_uc003ypt.1_Silent_p.S118S|WDR67_uc003ypu.1_Silent_p.S118S	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	661						centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ATCCAGACAGCATGCTTAATG	0.363													T	124140619	C	T	124140619	2	4	25	1	0	0	0	0	0	0	0	1	17315	709	25	2		2	WDR67	8	124140619	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2625791	124140619	22223403	601	23037											
RNF139	11236	broad.mit.edu	37	chr8	125498442	125498442	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttactgtttacttcttccttGattctcacattaaatacagt	3	9	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:125498442G>A	uc003yrc.2	+	2	895	c.552G>A	c.(550-552)TTG>TTA	p.L184L		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	184	Helical; (Potential).				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTCTTCCTTGATTCTCACAT	0.353									Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3				A	125498442	G	A	125498442	2	1	25	1	0	0	0	0	0	0	0	1	13442	1281	45	4		4	RNF139	8	125498442	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1357823	125498442	20865580	602	23038											
KIAA0196	9897	broad.mit.edu	37	chr8	126051080	126051080	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaattactcaccttattcaGtgggttgtgaatgccagctg	9	8	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:126051080G>A	uc003yrt.2	-	25	3405	c.3076C>T	c.(3076-3078)CTG>TTG	p.L1026L	KIAA0196_uc011lir.1_Silent_p.L878L|KIAA0196_uc003yru.1_Silent_p.L600L	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	1026					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ACCTTATTCAGTGGGTTGTGA	0.438													A	126051080	G	A	126051080	2	1	25	1	0	0	0	0	0	0	0	1	8161	1020	36	4		4	KIAA0196	8	126051080	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	552638	126051080	20312942	603	23039											
MYC	4609	broad.mit.edu	37	chr8	128753090	128753090	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaaaaaagccacagcataCatcctgtccgtccaagcaga	6	13	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:128753090C>T	uc003ysi.2	+	3	1776	c.1251C>T	c.(1249-1251)TAC>TAT	p.Y417Y		NM_002467	NP_002458	P01106	MYC_HUMAN	myc proto-oncogene protein	402	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		CCACAGCATACATCCTGTCCG	0.468		3	A|T	IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@	Burkitt lymphoma| amplified in other cancers|B-CLL								T	128753090	C	T	128753090	2	4	25	1	0	0	0	0	0	0	0	1	10016	489	17	4		4	MYC	8	128753090	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2702010	128753090	17610932	604	23040											
ADCY8	114	broad.mit.edu	37	chr8	131792892	131792892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcccagaagaaagtacGttttgatttttccttcctgt	6	10	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:131792892G>A	uc003ytd.3	-	18	3756	c.3500C>T	c.(3499-3501)ACG>ATG	p.T1167M	ADCY8_uc010mds.2_Missense_Mutation_p.T1036M	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	1167	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGAAAGTACGTTTTGATTTT	0.517										HNSCC(32;0.087)			A	131792892	G	A	131792892	3	1	25	1	0	0	0	0	1	0	0	0	300	1145	40	1	259	1	ADCY8	8	131792892	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3039802	131792892	14571130	605	23041											
KCNK9	51305	broad.mit.edu	37	chr8	140630719	140630719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgccatagtcctgcgagcGgtagcaggtgcaggagcaca	15	12	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:140630719G>A	uc003yvf.1	-	2	971	c.907C>T	c.(907-909)CGC>TGC	p.R303C	KCNK9_uc003yvg.1_Missense_Mutation_p.R303C|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	303	Cytoplasmic (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TCCTGCGAGCGGTAGCAGGTG	0.637													A	140630719	G	A	140630719	3	1	25	1	0	0	0	0	1	0	0	0	8072	1116	39	1	221	1	KCNK9	8	140630719	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	8837827	140630719	5733303	606	23042											
EIF2C2	27161	broad.mit.edu	37	chr8	141542570	141542570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggaaggccaccaggtgagCgtagtatgctggcgctggga	17	10	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:141542570C>T	uc003yvn.2	-	18	2456	c.2416G>A	c.(2416-2418)GCT>ACT	p.A806T	EIF2C2_uc010men.2_Missense_Mutation_p.A729T|EIF2C2_uc010meo.2_Missense_Mutation_p.A772T	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	806	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			ACCAGGTGAGCGTAGTATGCT	0.587													T	141542570	C	T	141542570	3	4	25	1	0	0	0	0	1	0	0	0	5006	768	27	1	171	1	EIF2C2	8	141542570	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	911851	141542570	4821452	607	23043											
EIF2C2	27161	broad.mit.edu	37	chr8	141561430	141561430	+	Frame_Shift_Del	DEL	G	G	-													gacttccgtgcactggcgctGgggggcgaagcacgcaatgg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:141561429_141561429TG>T	uc003yvn.3	-	10	1417	c.1376_1376CA>A	c.(1375-1377)cagfs	p.Q459fs	EIF2C2_uc010meo.3_Frame_Shift_Del_p.Q459fs|EIF2C2_uc010men.3_Frame_Shift_Del_p.Q382fs	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	459					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			GCACTGGCGCTGGGGGGCGAA	0.642													-	141561430	G	-	141561430	7	5	25	1	0	1	0	1	0	0	0	0	5006	1357	47	0	1240	0	EIF2C2	8	141561430	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	18860	141561430	4802592	608	23044											
SLC45A4	57210	broad.mit.edu	37	chr8	142222546	142222546	+	Frame_Shift_Del	DEL	C	C	-													tccccacggcgtcgaccacgCccccaagggcagaggccacc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:142222545_142222545GC>G	uc003ywd.1	-	6	2207	c.1899_1899GC>C	c.(1897-1899)ggcfs	p.G633fs	SLC45A4_uc003ywc.1_Frame_Shift_Del_p.G633fs|SLC45A4_uc010meq.1_Frame_Shift_Del_p.G631fs	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	684					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGTCGACCACGCCCCCAAGGG	0.617													-	142222546	C	-	142222546	7	5	25	1	0	1	0	1	0	0	0	0	14643	739	26	0	506	0	SLC45A4	8	142222546	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	661116	142222546	4141476	609	23045											
TSNARE1	203062	broad.mit.edu	37	chr8	143427220	143427220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacgggcaggggaaatggCggattccatactcggtccaa	15	10	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:143427220C>T	uc003ywk.2	-	3	240	c.122G>A	c.(121-123)CGC>CAC	p.R41H	TSNARE1_uc011lju.1_Missense_Mutation_p.R41H|TSNARE1_uc003ywj.2_Missense_Mutation_p.R41H|TSNARE1_uc003ywl.3_Intron	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	41					vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGGGAAATGGCGGATTCCATA	0.622													T	143427220	C	T	143427220	3	4	25	1	0	0	0	0	1	0	0	0	16627	768	27	1	1463	1	TSNARE1	8	143427220	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1204674	143427220	2936802	610	23046											
CYP11B1	1584	broad.mit.edu	37	chr8	143961145	143961145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtcctggggacccgggCggctctcgtgcccagtgcct	14	16	1	0	rs144224988	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:143961145C>T	uc003yxi.2	-	1	92	c.85G>A	c.(85-87)GCC>ACC	p.A29T	CYP11B1_uc003yxj.2_Missense_Mutation_p.A29T|CYP11B1_uc010mey.2_Missense_Mutation_p.A29T	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	29					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GGGACCCGGGCGGCTCTCGTG	0.642									Familial_Hyperaldosteronism_type_I				T	143961145	C	T	143961145	3	4	25	1	0	0	0	0	1	0	0	0	4145	768	27	1	1462	1	CYP11B1	8	143961145	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	533925	143961145	2402877	611	23047											
ZC3H3	23144	broad.mit.edu	37	chr8	144621326	144621326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgagggagtatttcttgcGccacgaaggcccatggtggg	15	10	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:144621326G>A	uc003yyd.2	-	2	240	c.211C>T	c.(211-213)CGC>TGC	p.R71C		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	71					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TATTTCTTGCGCCACGAAGGC	0.677													A	144621326	G	A	144621326	3	1	25	1	0	0	0	0	1	0	0	0	17566	1087	38	1	2679	1	ZC3H3	8	144621326	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	660181	144621326	1742696	612	23048											
C8orf73	642475	broad.mit.edu	37	chr8	144652140	144652140	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccctgtgaagaaggccataGccgtgagacgctgcgggtcg	15	12	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:144652140G>T	uc010mff.2	-	7	1183	c.1139C>A	c.(1138-1140)GCT>GAT	p.A380D	C8orf73_uc010mfg.1_Silent_p.G392G	NM_001100878	NP_001094348	A6NGR9	CH073_HUMAN	hypothetical protein LOC642475	380	Leu-rich.						binding			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAAGGCCATAGCCGTGAGACG	0.662													T	144652140	G	T	144652140	3	4	25	1	0	0	0	0	1	0	0	0	2435	971	34	5	1052	5	C8orf73	8	144652140	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	30814	144652140	1711882	613	23049											
EPPK1	83481	broad.mit.edu	37	chr8	144946637	144946637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcggccagcctgccctccCgcagaccctgcacagcctgc	10	21	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:144946637C>T	uc003zaa.1	-	1	798	c.785G>A	c.(784-786)CGG>CAG	p.R262Q		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	262						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGCCCTCCCGCAGACCCTG	0.697													T	144946637	C	T	144946637	3	4	25	1	0	0	0	0	1	0	0	0	5190	652	23	1	6481	1	EPPK1	8	144946637	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	294497	144946637	1417385	614	23050											
PLEC	5339	broad.mit.edu	37	chr8	144996013	144996013	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactcaggatgccggcctccTgcagcctctgagctgacacc	10	17	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:144996013T>C	uc003zaf.1	-	32	8557	c.8387A>G	c.(8386-8388)CAG>CGG	p.Q2796R	PLEC_uc003zab.1_Missense_Mutation_p.Q2659R|PLEC_uc003zac.1_Missense_Mutation_p.Q2663R|PLEC_uc003zad.2_Missense_Mutation_p.Q2659R|PLEC_uc003zae.1_Missense_Mutation_p.Q2627R|PLEC_uc003zag.1_Missense_Mutation_p.Q2637R|PLEC_uc003zah.2_Missense_Mutation_p.Q2645R|PLEC_uc003zaj.2_Missense_Mutation_p.Q2686R	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2796	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCCGGCCTCCTGCAGCCTCTG	0.692													C	144996013	T	C	144996013	3	2	25	1	0	0	0	0	1	0	0	0	12052	1580	55	3	5671	3	PLEC	8	144996013	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	49376	144996013	1368009	615	23051											
OPLAH	26873	broad.mit.edu	37	chr8	145113480	145113480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtaggcgtcggcacaggcCgtgtgcccccgagggacgat	17	12	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:145113480C>T	uc003zar.3	-	6	784	c.702G>A	c.(700-702)ACG>ACA	p.T234T	OPLAH_uc003zat.1_Silent_p.T12T	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	234							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CGGCACAGGCCGTGTGCCCCC	0.687													T	145113480	C	T	145113480	2	4	25	1	0	0	0	0	0	0	0	1	10876	639	23	1		1	OPLAH	8	145113480	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	117467	145113480	1250542	616	23052											
ADCK5	203054	broad.mit.edu	37	chr8	145617856	145617856	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaacatcaacaccgtgcgCgctatcaacgtggccctcgg	10	16	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:145617856C>T	uc003zch.2	+	13	1518	c.1464C>T	c.(1462-1464)CGC>CGT	p.R488R	ADCK5_uc003zcg.2_RNA|ADCK5_uc003zci.2_Silent_p.R77R	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	488						integral to membrane	protein serine/threonine kinase activity			stomach(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ACACCGTGCGCGCTATCAACG	0.692													T	145617856	C	T	145617856	2	4	25	1	0	0	0	0	0	0	0	1	291	755	27	1		1	ADCK5	8	145617856	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	504376	145617856	746166	617	23053											
RECQL4	9401	broad.mit.edu	37	chr8	145738055	145738055	+	Frame_Shift_Del	DEL	C	C	-													gggcctggagctgggcagggCccccagggcagttcagacgg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:145738054_145738054GC>G	uc003zdj.3	-	16	2898	c.2856_2856GC>C	c.(2854-2856)ggcfs	p.G952fs		NM_004260	NP_004251	O94761	RECQ4_HUMAN	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.	952					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|bubble DNA binding|zinc ion binding	p.G952G(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCTGGGCAGGGCCCCCAGGGC	0.627			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				-	145738055	C	-	145738055	7	5	25	1	0	1	0	1	0	0	0	0	13202	739	26	0	795	0	RECQL4	8	145738055	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	120199	145738055	625967	618	23054											
ARHGAP39	80728	broad.mit.edu	37	chr8	145771183	145771183	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgaactgggcacaggcagcGaggtcctcagactgagaagg	15	10	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:145771183G>A	uc003zdt.1	-	7	2526	c.1971C>T	c.(1969-1971)CTC>CTT	p.L657L	ARHGAP39_uc011llk.1_Silent_p.L657L|ARHGAP39_uc003zds.1_Silent_p.L657L	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	657					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						CACAGGCAGCGAGGTCCTCAG	0.677													A	145771183	G	A	145771183	2	1	25	1	0	0	0	0	0	0	0	1	884	1045	37	1		1	ARHGAP39	8	145771183	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	33128	145771183	592839	619	23055											
KANK1	23189	broad.mit.edu	37	chr9	742244	742244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggcggtcagtcacggaCggatagacatggtgaagggc	17	8	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:742244C>T	uc003zgl.1	+	14	4385	c.3736C>T	c.(3736-3738)CGG>TGG	p.R1246W	KANK1_uc003zgn.1_Missense_Mutation_p.R1246W|KANK1_uc003zgs.1_Missense_Mutation_p.R1088W|KANK1_uc010mgx.1_Missense_Mutation_p.R224W|KANK1_uc010mgy.1_Missense_Mutation_p.R158W|KANK1_uc003zgt.1_Missense_Mutation_p.R158W	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	1246	ANK 3.				negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CAGTCACGGACGGATAGACAT	0.597													T	742244	C	T	742244	3	4	25	1	0	0	0	0	1	0	0	0	7976	527	19	1	3770	1	KANK1	9	742244	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08		742244	140471187	620	23056											
VLDLR	7436	broad.mit.edu	37	chr9	2650419	2650419	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatggaggatgtgaatacctAtgcctgccagcaccacagat	10	10	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:2650419A>G	uc003zhk.1	+	15	2551	c.2154A>G	c.(2152-2154)CTA>CTG	p.L718L	VLDLR_uc003zhl.1_Silent_p.L718L|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Silent_p.L677L	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	718	Extracellular (Potential).|EGF-like 3.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GTGAATACCTATGCCTGCCAG	0.413													G	2650419	A	G	2650419	2	3	25	1	0	0	0	0	0	0	0	1	17171	436	16	3		3	VLDLR	9	2650419	Silent	SNP	A	TCGA-BR-4370-01A-01D-1158-08	1908175	2650419	138563012	621	23057											
RFX3	5991	broad.mit.edu	37	chr9	3248099	3248100	+	Frame_Shift_Del	DEL	AT	AT	-													gatgttctactaagtaaaacAtatattcgtcgtagagtaga							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:3248098_3248099CAT>C	uc003zhr.3	-	15	2213_2214	c.1901_1902ATG>G	c.(1900-1902)atgfs	p.M634fs	RFX3_uc010mhd.3_Frame_Shift_Del_p.M634fs|RFX3_uc003zhs.1_Frame_Shift_Del_p.M634fs	NM_134428	NP_602304	P48380	RFX3_HUMAN	Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA.	634					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CTAAGTAAAACATATATTCGTC	0.485													-	3248100	AT	-	3248099	7	5	25	1	0	1	0	1	0	0	0	0	13264	217	8	0	516	0	RFX3	9	3248099	Frame_Shift_Del	DEL	AT	TCGA-BR-4370-01A-01D-1158-08	597680	3248099	137965332	622	23058											
UHRF2	115426	broad.mit.edu	37	chr9	6498129	6498129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctctgaaggaatagaaCggtcaaggagattatgtcta	12	6	3	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:6498129C>T	uc003zjy.2	+	12	2219	c.1879C>T	c.(1879-1881)CGG>TGG	p.R627W	UHRF2_uc003zjz.2_RNA|UHRF2_uc003zkb.2_RNA	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains	627	Methyl-CpG binding and interaction with HDAC1.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		AGGAATAGAACGGTCAAGGAG	0.408													T	6498129	C	T	6498129	3	4	25	1	0	0	0	0	1	0	0	0	16967	527	19	1	1925	1	UHRF2	9	6498129	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3250030	6498129	134715302	623	23059											
PTPRD	5789	broad.mit.edu	37	chr9	8504278	8504278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttgactgcatggttctaGctgatatttctgcagtagaa	9	7	2	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:8504278G>A	uc003zkk.2	-	22	2516	c.1805C>T	c.(1804-1806)GCT>GTT	p.A602V	PTPRD_uc003zkp.2_Missense_Mutation_p.A602V|PTPRD_uc003zkq.2_Missense_Mutation_p.A602V|PTPRD_uc003zkr.2_Missense_Mutation_p.A596V|PTPRD_uc003zks.2_Missense_Mutation_p.A592V|PTPRD_uc003zkl.2_Missense_Mutation_p.A602V|PTPRD_uc003zkm.2_Missense_Mutation_p.A589V|PTPRD_uc003zkn.2_Missense_Mutation_p.A602V|PTPRD_uc003zko.2_Missense_Mutation_p.A599V	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	602	Fibronectin type-III 3.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CATGGTTCTAGCTGATATTTC	0.458										TSP Lung(15;0.13)			A	8504278	G	A	8504278	3	1	25	1	0	0	0	0	1	0	0	0	12799	971	34	2	4097	2	PTPRD	9	8504278	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2006149	8504278	132709153	624	23060											
MPDZ	8777	broad.mit.edu	37	chr9	13221386	13221386	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctacctgatcagctactccTccaggcagaatggtttttac	7	13	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:13221386T>C	uc010mia.1	-	6	918	c.861A>G	c.(859-861)GGA>GGG	p.G287G	MPDZ_uc010mhy.2_Silent_p.G287G|MPDZ_uc010mhz.2_Silent_p.G287G|MPDZ_uc011lmn.1_Silent_p.G287G|MPDZ_uc003zlb.3_Silent_p.G287G	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	287	PDZ 2.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		CAGCTACTCCTCCAGGCAGAA	0.363													C	13221386	T	C	13221386	2	2	25	1	0	0	0	0	0	0	0	1	9722	1538	54	3		3	MPDZ	9	13221386	Silent	SNP	T	TCGA-BR-4370-01A-01D-1158-08	4717108	13221386	127992045	625	23061											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18795510	18795510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgactctgtctccattgccGtcacattagcaggtaaccca	7	14	3	0	rs77886371	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:18795510G>A	uc003zne.3	+	20	3920	c.3793G>A	c.(3793-3795)GTC>ATC	p.V1265I		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	1265	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		CTCCATTGCCGTCACATTAGC	0.323													A	18795510	G	A	18795510	3	1	25	1	0	0	0	0	1	0	0	0	274	1145	40	1	3875	1	ADAMTSL1	9	18795510	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	5574124	18795510	122417921	626	23062											
IFNA16	3449	broad.mit.edu	37	chr9	21216773	21216773	+	Frame_Shift_Del	DEL	A	A	-													tcctttttgcaagtttgttgAaaaagagaaggatctcatga							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:21216772_21216772GA>G	uc003zor.1	-	0	539	c.533_533TC>C	c.(532-534)tcafs	p.S178fs	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	178					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CAAGTTTGTTGAAAAAGAGAA	0.363													-	21216773	A	-	21216773	7	5	25	1	0	1	0	1	0	0	0	0	7535	246	9	0	41	0	IFNA16	9	21216773	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	2421263	21216773	119996658	627	23063											
UNC13B	10497	broad.mit.edu	37	chr9	35400423	35400423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcatcaagacctttgtgcGctcgcagaccacccaaggta	8	14	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:35400423G>A	uc003zwq.2	+	36	4512	c.4220G>A	c.(4219-4221)CGC>CAC	p.R1407H	UNC13B_uc003zwr.2_Missense_Mutation_p.R1407H	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	1407					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ACCTTTGTGCGCTCGCAGACC	0.522													A	35400423	G	A	35400423	3	1	25	1	0	0	0	0	1	0	0	0	16982	1087	38	1	4362	1	UNC13B	9	35400423	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	14183650	35400423	105813008	628	23064											
CA9	768	broad.mit.edu	37	chr9	35674217	35674217	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggatctacctggagaggaGgatctacctggagaggagga	17	6	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:35674217G>T	uc003zxo.3	+	1	303	c.261G>T	c.(259-261)GAG>GAT	p.E87D	C9orf100_uc003zxl.2_RNA|CA9_uc003zxp.3_Missense_Mutation_p.E87D	NM_001216	NP_001207	Q16790	CAH9_HUMAN	carbonic anhydrase IX precursor	87	Extracellular.|Proteoglycan-like (PG).				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			ovary(4)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGGAGAGGAGGATCTACCTG	0.547													T	35674217	G	T	35674217	3	4	25	1	0	0	0	0	1	0	0	0	2524	991	35	5	263	5	CA9	9	35674217	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	273794	35674217	105539214	629	23065											
TLN1	7094	broad.mit.edu	37	chr9	35704763	35704763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccttggtgaccagagcgGcacagccatggcccagctcc	12	16	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:35704763G>A	uc003zxt.2	-	44	6137	c.5783C>T	c.(5782-5784)GCC>GTC	p.A1928V		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1928	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACCAGAGCGGCACAGCCATG	0.572													A	35704763	G	A	35704763	3	1	25	1	0	0	0	0	1	0	0	0	15944	1203	42	2	1898	2	TLN1	9	35704763	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	30546	35704763	105508668	630	23066											
ZCCHC7	84186	broad.mit.edu	37	chr9	37349416	37349416	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcagccttagcatattgCtatcactgcgcgcaaaaagg	8	12	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:37349416C>T	uc003zzq.2	+	7	1223	c.1050C>T	c.(1048-1050)TGC>TGT	p.C350C	ZCCHC7_uc011lqh.1_Silent_p.C60C|ZCCHC7_uc011lqi.1_Silent_p.C349C|ZCCHC7_uc010mlt.2_Silent_p.C349C	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	350	CCHC-type 4.						nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(29;0.0137)		TAGCATATTGCTATCACTGCG	0.443													T	37349416	C	T	37349416	2	4	25	1	0	0	0	0	0	0	0	1	17590	805	28	2		2	ZCCHC7	9	37349416	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1644653	37349416	103864015	631	23067											
TJP2	9414	broad.mit.edu	37	chr9	71831355	71831355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttctgatgtgctcccggGtgggcctgctgatgggctgc	15	11	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:71831355G>A	uc004ahe.2	+	3	415	c.215G>A	c.(214-216)GGT>GAT	p.G72D	TJP2_uc011lrs.1_Missense_Mutation_p.G49D|TJP2_uc004ahb.1_Missense_Mutation_p.G49D|TJP2_uc011lrt.1_Missense_Mutation_p.G49D|TJP2_uc004ahd.2_Missense_Mutation_p.G72D|TJP2_uc004ahf.2_Missense_Mutation_p.G72D|TJP2_uc011lru.1_Missense_Mutation_p.G76D|TJP2_uc011lrv.1_Missense_Mutation_p.G94D	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	72	PDZ 1.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						GTGCTCCCGGGTGGGCCTGCT	0.552													A	71831355	G	A	71831355	3	1	25	1	0	0	0	0	1	0	0	0	15927	1261	44	4	382	4	TJP2	9	71831355	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	34481939	71831355	69382076	632	23068											
TMEM2	23670	broad.mit.edu	37	chr9	74319544	74319544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggtatagaaatgtagtcCgtggtgccggcccattccag	13	10	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:74319544C>T	uc011lsa.1	-	18	3701	c.3161G>A	c.(3160-3162)CGG>CAG	p.R1054Q	TMEM2_uc011lrz.1_Missense_Mutation_p.R47Q|TMEM2_uc010mos.2_Missense_Mutation_p.R991Q|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	1054						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AAATGTAGTCCGTGGTGCCGG	0.433													T	74319544	C	T	74319544	3	4	25	1	0	0	0	0	1	0	0	0	16118	652	23	1	1018	1	TMEM2	9	74319544	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2488189	74319544	66893887	633	23069											
TRPM6	140803	broad.mit.edu	37	chr9	77397640	77397640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgtatatcatccagtatgGctcaaatacaatatctcgag	6	10	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:77397640G>A	uc004ajl.1	-	22	3287	c.3049C>T	c.(3049-3051)CCA>TCA	p.P1017S	TRPM6_uc004ajk.1_Missense_Mutation_p.P1012S|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.P303S	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1017					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						ATCCAGTATGGCTCAAATACA	0.458													A	77397640	G	A	77397640	3	1	25	1	0	0	0	0	1	0	0	0	16587	1203	42	2	3091	2	TRPM6	9	77397640	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3078096	77397640	63815791	634	23070											
TRPM6	140803	broad.mit.edu	37	chr9	77416834	77416834	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgagtaattcttcaactcTtctgaggcatcatccaccat	5	11	5	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:77416834T>G	uc004ajl.1	-	16	2227	c.1989A>C	c.(1987-1989)GAA>GAC	p.E663D	TRPM6_uc004ajk.1_Missense_Mutation_p.E658D|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.E41D	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	663	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						TCTTCAACTCTTCTGAGGCAT	0.428													G	77416834	T	G	77416834	3	3	25	1	0	0	0	0	1	0	0	0	16587	1606	56	5	4175	5	TRPM6	9	77416834	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	19194	77416834	63796597	635	23071											
PCSK5	5125	broad.mit.edu	37	chr9	78506228	78506228	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccactgggcagtcaaaatcgCcgggggcttcccggaggcca	14	14	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:78506228C>A	uc004ajz.2	+	1	669	c.131C>A	c.(130-132)GCC>GAC	p.A44D	PCSK5_uc004ajy.2_Missense_Mutation_p.A44D|PCSK5_uc004aka.2_RNA	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	44					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3						GTCAAAATCGCCGGGGGCTTC	0.632													A	78506228	C	A	78506228	3	1	25	1	0	0	0	0	1	0	0	0	11603	739	26	5	133	5	PCSK5	9	78506228	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1089394	78506228	62707203	636	23072											
PRUNE2	158471	broad.mit.edu	37	chr9	79322909	79322909	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtttttcatgggtatcTtttggctgcaggttatctgc	12	6	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:79322909T>G	uc010mpk.2	-	8	4405	c.4281A>C	c.(4279-4281)AAA>AAC	p.K1427N		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1427					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						CATGGGTATCTTTTGGCTGCA	0.428													G	79322909	T	G	79322909	3	3	25	1	0	0	0	0	1	0	0	0	12641	1606	56	5	5033	5	PRUNE2	9	79322909	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	816681	79322909	61890522	637	23073											
VPS13A	23230	broad.mit.edu	37	chr9	79897181	79897181	+	Frame_Shift_Del	DEL	A	A	-													aagacaaaggagatgtcattAaaaaattaggtatgtttttt					rs78046172	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:79897180_79897180TA>T	uc004akr.3	+	28	3368	c.3108_3108TA>T	c.(3106-3108)attfs	p.I1036fs	VPS13A_uc004akp.4_Frame_Shift_Del_p.I1036fs|VPS13A_uc004akq.4_Frame_Shift_Del_p.I1036fs|VPS13A_uc004aks.3_Frame_Shift_Del_p.I1036fs	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1036					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGATGTCATTAAAAAATTAG	0.299													-	79897181	A	-	79897181	7	5	25	1	0	1	0	1	0	0	0	0	17186	363	13	0	3223	0	VPS13A	9	79897181	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	574272	79897181	61316250	638	23074											
VPS13A	23230	broad.mit.edu	37	chr9	79954754	79954754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaagcagacggaattcatcGaaagcatccacctaattata	6	10	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:79954754G>A	uc004akr.2	+	48	6961	c.6701G>A	c.(6700-6702)CGA>CAA	p.R2234Q	VPS13A_uc004akp.3_Missense_Mutation_p.R2234Q|VPS13A_uc004akq.3_Missense_Mutation_p.R2234Q|VPS13A_uc004aks.2_Missense_Mutation_p.R2195Q	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2234					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						GGAATTCATCGAAAGCATCCA	0.363													A	79954754	G	A	79954754	3	1	25	1	0	0	0	0	1	0	0	0	17186	1058	37	1	6891	1	VPS13A	9	79954754	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	57573	79954754	61258677	639	23075											
GAS1	2619	broad.mit.edu	37	chr9	89561072	89561072	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggcatagccagcatgtccTcaatgacggtgcggcattcg	13	11	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:89561072T>C	uc004aox.3	-	1	1033	c.623A>G	c.(622-624)GAG>GGG	p.E208G	uc004aoy.2_5'Flank	NM_002048	NP_002039	P54826	GAS1_HUMAN	growth arrest-specific 1 precursor	208					cell cycle arrest|negative regulation of S phase of mitotic cell cycle	anchored to plasma membrane					0						CAGCATGTCCTCAATGACGGT	0.657													C	89561072	T	C	89561072	3	2	25	1	0	0	0	0	1	0	0	0	6244	1551	54	3	418	3	GAS1	9	89561072	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	9606318	89561072	51652359	640	23076											
PTCH1	5727	broad.mit.edu	37	chr9	98229519	98229519	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaagtaagtgctggatattCgggtagtctgctttctgggt	13	5	2	0	rs151266988		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:98229519C>T	uc004avk.3	-	15	2627	c.2439G>A	c.(2437-2439)CCG>CCA	p.P813P	PTCH1_uc010mro.2_Silent_p.P662P|PTCH1_uc010mrp.2_Silent_p.P662P|PTCH1_uc010mrq.2_Silent_p.P662P|PTCH1_uc004avl.3_Silent_p.P662P|PTCH1_uc010mrr.2_Silent_p.P747P|PTCH1_uc004avm.3_Silent_p.P812P	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	813	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.N814fs*16(1)		skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GCTGGATATTCGGGTAGTCTG	0.398									Basal_Cell_Nevus_syndrome				T	98229519	C	T	98229519	2	4	25	1	0	0	0	0	0	0	0	1	12730	871	31	1		1	PTCH1	9	98229519	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	8668447	98229519	42983912	641	23077											
FOXE1	2304	broad.mit.edu	37	chr9	100616467	100616467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagcgcttccccttctacCgcgacaaccccaaaaagtgg	8	17	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:100616467C>T	uc004axu.2	+	1	931	c.271C>T	c.(271-273)CGC>TGC	p.R91C		NM_004473	NP_004464	O00358	FOXE1_HUMAN	forkhead box E1	91	Fork-head.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		Acute lymphoblastic leukemia(62;0.158)				CCCCTTCTACCGCGACAACCC	0.647													T	100616467	C	T	100616467	3	4	25	1	0	0	0	0	1	0	0	0	6003	652	23	1	273	1	FOXE1	9	100616467	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2386948	100616467	40596964	642	23078											
STX17	55014	broad.mit.edu	37	chr9	102677556	102677556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaagtgaaattacgccGtcttgaaccagctatccaga	8	9	1	4			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:102677556G>A	uc004bal.3	+	2	171	c.35G>A	c.(34-36)CGT>CAT	p.R12H	STX17_uc004bak.2_Missense_Mutation_p.R12H|STX17_uc010msx.2_RNA|STX17_uc011lvd.1_RNA	NM_017919	NP_060389	P56962	STX17_HUMAN	syntaxin 17	12	Cytoplasmic (Potential).				intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			large_intestine(1)	1		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AAATTACGCCGTCTTGAACCA	0.378													A	102677556	G	A	102677556	3	1	25	1	0	0	0	0	1	0	0	0	15339	1145	40	1	37	1	STX17	9	102677556	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2061089	102677556	38535875	643	23079											
ACTL7B	10880	broad.mit.edu	37	chr9	111617781	111617781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagaccagcacagcgtgctCctcggggaggatcttcatgg	15	11	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:111617781C>T	uc004bdi.2	-	1	495	c.430G>A	c.(430-432)GAG>AAG	p.E144K		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	144						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						ACAGCGTGCTCCTCGGGGAGG	0.627													T	111617781	C	T	111617781	3	4	25	1	0	0	0	0	1	0	0	0	201	864	30	4	821	4	ACTL7B	9	111617781	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	8940225	111617781	29595650	644	23080											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112705242	112705242	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaggactgtgattgcagAtgggagcctcagccatccca	12	10	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:112705242A>G	uc004bei.2	+	7	965	c.773A>G	c.(772-774)GAT>GGT	p.D258G	PALM2_uc004bef.2_Missense_Mutation_p.D260G|PALM2_uc004beg.2_Missense_Mutation_p.D226G|PALM2_uc004beh.3_Missense_Mutation_p.D258G|PALM2-AKAP2_uc004bek.3_Intron|PALM2-AKAP2_uc004bej.3_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	520							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						GTGATTGCAGATGGGAGCCTC	0.473													G	112705242	A	G	112705242	3	3	25	1	0	0	0	0	1	0	0	0	11410	333	12	3		3	PALM2-AKAP2	9	112705242	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	1087461	112705242	28508189	645	23081											
TXNDC8	255220	broad.mit.edu	37	chr9	113088522	113088522	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaagtttcagccagctccTgggaaagcaaagaaatggca	11	9	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:113088522T>C	uc004bes.2	-	4	239	c.190_splice	c.e4-1	p.E64_splice	TXNDC8_uc011lwl.1_Splice_Site_p.E44_splice	NM_001003936	NP_001003936	Q6A555	TXND8_HUMAN	thioredoxin domain containing 8						cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	Golgi apparatus	electron carrier activity|protein disulfide oxidoreductase activity				0						AGCCAGCTCCTGGGAAAGCAA	0.418													C	113088522	T	C	113088522	5	2	25	1	0	0	0	0	0	0	1	0	16798	1594	55	3	171	3	TXNDC8	9	113088522	Splice_Site	SNP	T	TCGA-BR-4370-01A-01D-1158-08	383280	113088522	28124909	646	23082											
SUSD1	64420	broad.mit.edu	37	chr9	114825285	114825285	+	Frame_Shift_Del	DEL	A	A	-													agaggtcctctgtgcaccgtAaaaaattctacttccgggag							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:114825284_114825284TA>T	uc010mui.3	-	12	1824	c.1783_1783TA>A	c.(1783-1785)acgfs	p.T595fs	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Frame_Shift_Del_p.T595fs|SUSD1_uc010muj.3_Frame_Shift_Del_p.T595fs			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	595						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTGTGCACCGTAAAAAATTCT	0.483													-	114825285	A	-	114825285	7	5	25	1	0	1	0	1	0	0	0	0	15404	359	13	0	481	0	SUSD1	9	114825285	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	1736763	114825285	26388146	647	23083											
TNC	3371	broad.mit.edu	37	chr9	117849343	117849343	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccctggtcattgcagtcgcTggggcaagccagctggctgc	15	13	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:117849343T>G	uc004bjj.3	-	3	1029	c.667A>C	c.(667-669)AGC>CGC	p.S223R	TNC_uc010mvf.2_Missense_Mutation_p.S223R	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	223	EGF-like 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						TTGCAGTCGCTGGGGCAAGCC	0.607													G	117849343	T	G	117849343	3	3	25	1	0	0	0	0	1	0	0	0	16267	1580	55	5	6042	5	TNC	9	117849343	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	3024058	117849343	23364088	648	23084											
PAPPA	5069	broad.mit.edu	37	chr9	119115183	119115183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtgcctggatcctctcGgaagtcaaagaagtaagtgg	12	9	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:119115183G>A	uc004bjn.2	+	16	4544	c.4163G>A	c.(4162-4164)CGG>CAG	p.R1388Q	PAPPA_uc011lxq.1_Missense_Mutation_p.R763Q	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1388	Sushi 3.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						GGATCCTCTCGGAAGTCAAAG	0.507													A	119115183	G	A	119115183	3	1	25	1	0	0	0	0	1	0	0	0	11432	1116	39	1	4225	1	PAPPA	9	119115183	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1265840	119115183	22098248	649	23085											
ASTN2	23245	broad.mit.edu	37	chr9	119582954	119582954	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaggggcagcgtctgctGcaggcacagctgctcacagc	16	13	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:119582954G>A	uc004bjs.1	-	12	2250	c.2149C>T	c.(2149-2151)CAG>TAG	p.Q717*	ASTN2_uc004bjr.1_Nonsense_Mutation_p.Q713*|ASTN2_uc004bjt.1_Nonsense_Mutation_p.Q666*	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	717	Extracellular (Potential).|EGF-like 3.					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						AGCGTCTGCTGCAGGCACAGC	0.577													A	119582954	G	A	119582954	4	1	25	1	0	0	0	0	0	1	0	0	1065	1328	46	2	2150	2	ASTN2	9	119582954	Nonsense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	467771	119582954	21630477	650	23086											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123290085	123290085	+	Splice_Site	DEL	T	T	-													tcaagtgtatcagacataccTttttttcctttgattttaat					rs140244643	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:123290084_123290084CT>C	uc004bkf.3	-	10	1180	c.999_splice	c.e10+1	p.K333_splice	CDK5RAP2_uc004bkg.3_Splice_Site_p.K333_splice|CDK5RAP2_uc011lxw.2_Splice_Site|CDK5RAP2_uc011lxx.2_Splice_Site|CDK5RAP2_uc011lxy.2_Splice_Site|CDK5RAP2_uc011lxz.2_Splice_Site|CDK5RAP2_uc011lya.2_Splice_Site|CDK5RAP2_uc004bkh.1_Splice_Site_p.K333_splice|CDK5RAP2_uc004bki.3_Splice_Site_p.K132_splice	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	333					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCAGACATACCTTTTTTTCCT	0.338													-	123290085	T	-	123290085	8	5	25	1	0	1	0	1	0	0	1	0	3146	1623	56	0	4799	0	CDK5RAP2	9	123290085	Splice_Site	DEL	T	TCGA-BR-4370-01A-01D-1158-08	3707131	123290085	17923346	651	23087											
C5	727	broad.mit.edu	37	chr9	123725021	123725021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaagagttcaaatatccGgaatcgtacacaaaggaaat	7	7	2	1	rs138933092		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:123725021G>A	uc004bkv.2	-	36	4462	c.4432C>T	c.(4432-4434)CGG>TGG	p.R1478W		NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	1478					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCAAATATCCGGAATCGTACA	0.373													A	123725021	G	A	123725021	3	1	25	1	0	0	0	0	1	0	0	0	2280	1115	39	1	622	1	C5	9	123725021	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	434936	123725021	17488410	652	23088											
PBX3	5090	broad.mit.edu	37	chr9	128725316	128725316	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccctccgtcatgttatcaAtcagacgggaggctacagtg	10	11	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:128725316A>G	uc004bqb.2	+	8	1264	c.1148A>G	c.(1147-1149)AAT>AGT	p.N383S	PBX3_uc004bqc.2_Missense_Mutation_p.N202S|PBX3_uc004bqd.2_Silent_p.Q164Q|PBX3_uc011lzw.1_Missense_Mutation_p.N308S|PBX3_uc011lzx.1_Silent_p.Q256Q|PBX3_uc004bqe.2_Missense_Mutation_p.N291S	NM_006195	NP_006186	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3 isoform 1	383					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1						CATGTTATCAATCAGACGGGA	0.403													G	128725316	A	G	128725316	3	3	25	1	0	0	0	0	1	0	0	0	11494	101	4	3	1178	3	PBX3	9	128725316	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	5000295	128725316	12488115	653	23089											
STXBP1	6812	broad.mit.edu	37	chr9	130442513	130442513	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcctccttcagcaccacCgccgtcaggtaggtgaaaat	9	14	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:130442513C>T	uc004brl.2	+	17	1736	c.1539C>T	c.(1537-1539)ACC>ACT	p.T513T	STXBP1_uc004brk.2_Silent_p.T513T	NM_001032221	NP_001027392	P61764	STXB1_HUMAN	syntaxin binding protein 1 isoform b	513					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			skin(1)	1						TCAGCACCACCGCCGTCAGGT	0.507													T	130442513	C	T	130442513	2	4	25	1	0	0	0	0	0	0	0	1	15351	639	23	1		1	STXBP1	9	130442513	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1717197	130442513	10770918	654	23090											
ODF2	4957	broad.mit.edu	37	chr9	131221884	131221884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacggagtaacgagtctcaCgcagaaaaaggtcttgagag	13	7	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:131221884C>T	uc011mbd.1	+	3	382	c.71C>T	c.(70-72)ACG>ATG	p.T24M	ODF2_uc011maz.1_Missense_Mutation_p.T24M|ODF2_uc011mba.1_Translation_Start_Site|ODF2_uc010myb.2_Translation_Start_Site|ODF2_uc011mbb.1_Translation_Start_Site|ODF2_uc011mbc.1_Translation_Start_Site|ODF2_uc004bva.2_Translation_Start_Site|ODF2_uc004bvb.2_Translation_Start_Site|ODF2_uc011mbe.1_Translation_Start_Site|ODF2_uc004bvc.2_Translation_Start_Site|ODF2_uc010myc.2_Missense_Mutation_p.T24M|ODF2_uc011mbf.1_Missense_Mutation_p.T24M|ODF2_uc004bvd.3_Missense_Mutation_p.T24M|ODF2_uc004bve.2_Missense_Mutation_p.T24M	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	24					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1						ACGAGTCTCACGCAGAAAAAG	0.488													T	131221884	C	T	131221884	3	4	25	1	0	0	0	0	1	0	0	0	10827	536	19	1	77	1	ODF2	9	131221884	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	779371	131221884	9991547	655	23091											
SPTAN1	6709	broad.mit.edu	37	chr9	131346661	131346661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggaagccctcgtggctcGctatgaggcactcaaggagc	13	12	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:131346661G>A	uc004bvl.3	+	17	2407	c.2294G>A	c.(2293-2295)CGC>CAC	p.R765H	SPTAN1_uc011mbg.1_Missense_Mutation_p.R765H|SPTAN1_uc011mbh.1_Missense_Mutation_p.R777H|SPTAN1_uc004bvm.3_Missense_Mutation_p.R765H|SPTAN1_uc004bvn.3_Missense_Mutation_p.R765H	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	765	Spectrin 8.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						CTCGTGGCTCGCTATGAGGCA	0.552													A	131346661	G	A	131346661	3	1	25	1	0	0	0	0	1	0	0	0	15116	1087	38	1	2356	1	SPTAN1	9	131346661	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	124777	131346661	9866770	656	23092											
NUP188	23511	broad.mit.edu	37	chr9	131735455	131735455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgcaccaccagcactgCatgcatgtgtgtctatggac	10	13	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:131735455C>T	uc004bws.1	+	12	1152	c.1130C>T	c.(1129-1131)GCA>GTA	p.A377V		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	377					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						ACCAGCACTGCATGCATGTGT	0.483													T	131735455	C	T	131735455	3	4	25	1	0	0	0	0	1	0	0	0	10758	710	25	2	1176	2	NUP188	9	131735455	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	388794	131735455	9477976	657	23093											
EXOSC2	23404	broad.mit.edu	37	chr9	133577549	133577549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggggttttggtccaggtttCcccctccctggtgaaacggc	14	12	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:133577549C>T	uc004bzu.2	+	7	545	c.524C>T	c.(523-525)TCC>TTC	p.S175F	EXOSC2_uc011mbz.1_Missense_Mutation_p.S149F|EXOSC2_uc011mca.1_RNA	NM_014285	NP_055100	Q13868	EXOS2_HUMAN	exosome component 2	175					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|positive regulation of cell growth|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|7S RNA binding|protein binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		GTCCAGGTTTCCCCCTCCCTG	0.473													T	133577549	C	T	133577549	3	4	25	1	0	0	0	0	1	0	0	0	5315	855	30	4	550	4	EXOSC2	9	133577549	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1842094	133577549	7635882	658	23094											
FIBCD1	84929	broad.mit.edu	37	chr9	133780645	133780645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgccggaatagtcagccaCggtgagcgggtacccgtctt	14	11	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:133780645C>T	uc004bzz.2	-	6	1347	c.1102G>A	c.(1102-1104)GTG>ATG	p.V368M	FIBCD1_uc011mcc.1_Missense_Mutation_p.V368M	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	368	Fibrinogen C-terminal.|Extracellular (Potential).				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding				0	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TAGTCAGCCACGGTGAGCGGG	0.662													T	133780645	C	T	133780645	3	4	25	1	0	0	0	0	1	0	0	0	5884	536	19	1	291	1	FIBCD1	9	133780645	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	203096	133780645	7432786	659	23095											
FIBCD1	84929	broad.mit.edu	37	chr9	133799212	133799212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggaaagacagagtagacGccatcgtcctgctgtccgct	13	11	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:133799212G>A	uc004bzz.2	-	4	1013	c.768C>T	c.(766-768)GGC>GGT	p.G256G	FIBCD1_uc011mcc.1_Silent_p.G256G	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	256	Fibrinogen C-terminal.|Extracellular (Potential).				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding				0	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CAGAGTAGACGCCATCGTCCT	0.672													A	133799212	G	A	133799212	2	1	25	1	0	0	0	0	0	0	0	1	5884	1074	38	1		1	FIBCD1	9	133799212	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	18567	133799212	7414219	660	23096											
NTNG2	84628	broad.mit.edu	37	chr9	135114577	135114577	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagctgcaagcacaacacgCgaggtcagcactgccagcac	10	15	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:135114577C>T	uc004cbh.2	+	6	1917	c.1141C>T	c.(1141-1143)CGA>TGA	p.R381*		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	381	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCACAACACGCGAGGTCAGCA	0.607													T	135114577	C	T	135114577	4	4	25	1	0	0	0	0	0	1	0	0	10705	760	27	1	1159	1	NTNG2	9	135114577	Nonsense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1315365	135114577	6098854	661	23097											
GTF3C4	9329	broad.mit.edu	37	chr9	135554691	135554691	+	Frame_Shift_Del	DEL	A	A	-													atttttacaagaagctttggAaaaaaagattgaaagcagtg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:135554690_135554690GA>G	uc010mzv.3	+	1	1942	c.1684_1684GA>G	c.(1684-1686)gaafs	p.E562fs	GTF3C4_uc010mzw.3_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.	562					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		AGAAGCTTTGGAAAAAAAGAT	0.348													-	135554691	A	-	135554691	7	5	25	1	0	1	0	1	0	0	0	0	6875	246	9	0	1691	0	GTF3C4	9	135554691	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	440114	135554691	5658740	662	23098											
TMEM8C	389827	broad.mit.edu	37	chr9	136385331	136385331	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatgctcagggctgtcccgTagacactgaaatactccagg	10	12	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:136385331T>C	uc011mdk.1	-	2	215	c.215A>G	c.(214-216)TAC>TGC	p.Y72C		NM_001080483	NP_001073952	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	72	Helical; (Potential).					integral to membrane					0						GGCTGTCCCGTAGACACTGAA	0.597													C	136385331	T	C	136385331	3	2	25	1	0	0	0	0	1	0	0	0	16213	1638	57	3	466	3	TMEM8C	9	136385331	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	830640	136385331	4828100	663	23099											
RXRA	6256	broad.mit.edu	37	chr9	137300040	137300041	+	Frame_Shift_Ins	INS	-	-	C													cagcagcgaggacatcaagcINScccccctgggcctcaatggc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:137300039_137300040G>GC	uc004cfb.2	+	2	486_487	c.324_325G>GC	c.(322-327)aagcccfs	p.K108fs	RXRA_uc004cfc.1_Frame_Shift_Ins_p.K11fs	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	108	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	p.I107I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	AGGACATCAAGCCCCCCCTGGG	0.634													C	137300041	-	C	137300040	7	5	25	1	0	1	1	0	0	0	0	0	13763	739	26	0	335	0	RXRA	9	137300040	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	914709	137300040	3913391	664	23100											
COL5A1	1289	broad.mit.edu	37	chr9	137630637	137630637	+	Frame_Shift_Del	DEL	G	G	-													tgggtcccactggccaagtcGgggaccctggagaaagggta					rs141093527		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:137630636_137630636CG>C	uc004cfe.3	+	10	1858	c.1476_1476CG>C	c.(1474-1476)gtcfs	p.V492fs		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	492	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTGGCCAAGTCGGGGACCCTG	0.572													-	137630637	G	-	137630637	7	5	25	1	0	1	0	1	0	0	0	0	3696	1116	39	0	1519	0	COL5A1	9	137630637	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	330597	137630637	3582794	665	23101											
OLFM1	10439	broad.mit.edu	37	chr9	137998700	137998700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccctgaaggcgataaccGggtgagtgtccccttatgtc	12	13	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:137998700G>A	uc010nar.2	+	5	1098	c.782G>A	c.(781-783)CGG>CAG	p.R261Q	OLFM1_uc004cfl.3_Missense_Mutation_p.R243Q|OLFM1_uc004cfn.3_Missense_Mutation_p.R12Q	NM_014279	NP_055094	Q99784	NOE1_HUMAN	olfactomedin related ER localized protein	261	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			ovary(1)|skin(1)	2		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GGCGATAACCGGGTGAGTGTC	0.622													A	137998700	G	A	137998700	3	1	25	1	0	0	0	0	1	0	0	0	10852	1130	39	1	756	1	OLFM1	9	137998700	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	368063	137998700	3214731	666	23102											
CARD9	64170	broad.mit.edu	37	chr9	139266495	139266495	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccggaagccctccaggacGctccagcactcgtcatcgtt	9	17	1	0	rs112268470		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:139266495G>A	uc004chg.3	-	2	202	c.36C>T	c.(34-36)AGC>AGT	p.S12S	CARD9_uc011mdw.1_Silent_p.S12S|CARD9_uc011mdx.1_Intron|CARD9_uc010nbj.2_Silent_p.S12S	NM_052813	NP_434700	Q9H257	CARD9_HUMAN	caspase recruitment domain protein 9 isoform 1	12	CARD.				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			pancreas(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CCTCCAGGACGCTCCAGCACT	0.647													A	139266495	G	A	139266495	2	1	25	1	0	0	0	0	0	0	0	1	2652	1078	38	1		1	CARD9	9	139266495	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1267795	139266495	1946936	667	23103											
SNAPC4	6621	broad.mit.edu	37	chr9	139276353	139276353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctacccaaggggtcacaGccagcagcagcctgcggttc	11	17	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:139276353G>A	uc004chh.2	-	17	2249	c.2240C>T	c.(2239-2241)GCT>GTT	p.A747V		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	747					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AGGGGTCACAGCCAGCAGCAG	0.662													A	139276353	G	A	139276353	3	1	25	1	0	0	0	0	1	0	0	0	14837	971	34	2	2193	2	SNAPC4	9	139276353	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	9858	139276353	1937078	668	23104											
ABCA2	20	broad.mit.edu	37	chr9	139910575	139910575	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgtgcggatgtcgtgcccGtagatggtggcggaacccga	16	11	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:139910575G>A	uc011mem.1	-	21	3301	c.3153C>T	c.(3151-3153)TAC>TAT	p.Y1051Y	ABCA2_uc011mel.1_Silent_p.Y1052Y|ABCA2_uc004ckl.1_Silent_p.Y982Y|ABCA2_uc004ckm.1_Silent_p.Y1082Y|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1051	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGTCGTGCCCGTAGATGGTGG	0.647													A	139910575	G	A	139910575	2	1	25	1	0	0	0	0	0	0	0	1	32	1140	40	1		1	ABCA2	9	139910575	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	634222	139910575	1302856	669	23105											
ZMYND19	116225	broad.mit.edu	37	chr9	140477041	140477041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagggacgcttcctctccCgacagtgcttcttgtgggca	13	12	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:140477041C>T	uc004cno.1	-	6	860	c.638G>A	c.(637-639)CGG>CAG	p.R213Q		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	zinc finger, MYND domain containing 19	213						Golgi apparatus|plasma membrane	zinc ion binding			skin(1)	1	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CTTCCTCTCCCGACAGTGCTT	0.652													T	140477041	C	T	140477041	3	4	25	1	0	0	0	0	1	0	0	0	17707	652	23	1	49	1	ZMYND19	9	140477041	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	566466	140477041	736390	670	23106											
EHMT1	79813	broad.mit.edu	37	chr9	140638449	140638449	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaggagctcgaggaggaCgacggccatggtgcagagca	17	9	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:140638449C>T	uc011mfc.1	+	6	1114	c.1077C>T	c.(1075-1077)GAC>GAT	p.D359D	EHMT1_uc004coa.2_Silent_p.D359D|EHMT1_uc004cob.1_Silent_p.D328D	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	359					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TCGAGGAGGACGACGGCCATG	0.637													T	140638449	C	T	140638449	2	4	25	1	0	0	0	0	0	0	0	1	4983	535	19	1		1	EHMT1	9	140638449	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	161408	140638449	574982	671	23107											
DIP2C	22982	broad.mit.edu	37	chr10	373069	373069	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgatccgaggcctctcttcCgccacaaccacgcaggtcct	9	18	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:373069C>T	uc001ifp.2	-	31	3891	c.3801G>A	c.(3799-3801)GCG>GCA	p.A1267A		NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	1267						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCCTCTCTTCCGCCACAACCA	0.617													T	373069	C	T	373069	2	4	25	1	0	0	0	0	0	0	0	1	4529	639	23	1		1	DIP2C	10	373069	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08		373069	135161678	672	23108											
LARP4B	23185	broad.mit.edu	37	chr10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-													agataagcagaattccaatgTttttttaagtacttctcggg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:890938_890938GT>G	uc001ifs.1	-	4	529	c.488_488AC>C	c.(487-489)acafs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	163	HTH La-type RNA-binding.						RNA binding|nucleotide binding	p.T163P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GAATTCCAATGTTTTTTTAAG	0.353													-	890939	T	-	890939	7	5	25	1	0	1	0	1	0	0	0	0	8631	1725	60	0	1781	0	LARP4B	10	890939	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	517870	890939	134643808	673	23109											
PFKP	5214	broad.mit.edu	37	chr10	3155640	3155640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgtacgctcagctgtgcGcgtgggcattgccgacggcc	15	14	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:3155640G>A	uc001igp.2	+	13	1337	c.1301G>A	c.(1300-1302)CGC>CAC	p.R434H	PFKP_uc001igq.2_Missense_Mutation_p.R426H|PFKP_uc009xhr.2_Missense_Mutation_p.R396H|PFKP_uc009xhs.1_Missense_Mutation_p.R218H|PFKP_uc009xht.2_Missense_Mutation_p.R172H|PFKP_uc009xhu.2_5'UTR	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	434					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		TCAGCTGTGCGCGTGGGCATT	0.612													A	3155640	G	A	3155640	3	1	25	1	0	0	0	0	1	0	0	0	11766	1087	38	1	1351	1	PFKP	10	3155640	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2264701	3155640	132379107	674	23110											
SFMBT2	57713	broad.mit.edu	37	chr10	7290522	7290522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacccaccttagtcaccgaCgcaggagagatgtaaaaggg	11	10	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:7290522C>T	uc009xio.1	-	8	1051	c.960G>A	c.(958-960)GCG>GCA	p.A320A	SFMBT2_uc001ijn.1_Silent_p.A320A|SFMBT2_uc010qay.1_Silent_p.A320A	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	320	MBT 3.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						TAGTCACCGACGCAGGAGAGA	0.493													T	7290522	C	T	7290522	2	4	25	1	0	0	0	0	0	0	0	1	14158	523	19	1		1	SFMBT2	10	7290522	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	4134882	7290522	128244225	675	23111											
GATA3	2625	broad.mit.edu	37	chr10	8100728	8100729	+	Frame_Shift_Ins	INS	-	-	C													agtacagctccggactcttcINSccccccagcagcctgctggg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:8100727_8100728T>TC	uc001ijz.3	+	2	1258_1259	c.701_702T>TC	c.(700-702)ttcfs	p.F234fs	GATA3_uc001ika.3_Frame_Shift_Ins_p.F234fs	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	234					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCCGGACTCTTCCCCCCCAGCA	0.693			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						C	8100729	-	C	8100728	7	5	25	1	0	1	1	0	0	0	0	0	6255	854	30	0	708	0	GATA3	10	8100728	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	810206	8100728	127434019	676	23112											
MCM10	55388	broad.mit.edu	37	chr10	13217572	13217572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacccctacagacgatttctCggaacaaacctagtgggata	8	11	1	1	rs150895215	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:13217572C>T	uc001ima.2	+	6	759	c.658C>T	c.(658-660)CGG>TGG	p.R220W	MCM10_uc001imb.2_Missense_Mutation_p.R219W|MCM10_uc001imc.2_Missense_Mutation_p.R219W	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	220					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						GACGATTTCTCGGAACAAACC	0.468													T	13217572	C	T	13217572	3	4	25	1	0	0	0	0	1	0	0	0	9385	875	31	1	676	1	MCM10	10	13217572	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	5116844	13217572	122317175	677	23113											
HSPA14	51182	broad.mit.edu	37	chr10	14881910	14881910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttttttctctaggatggcCgggctggtgtggttgcaaat	14	6	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:14881910C>T	uc001inf.2	+	2	205	c.64C>T	c.(64-66)CGG>TGG	p.R22W	CDNF_uc001inb.1_5'Flank|CDNF_uc010qbv.1_5'Flank|CDNF_uc001inc.1_5'Flank|HSPA14_uc001ind.2_5'UTR|HSPA14_uc001ine.2_Missense_Mutation_p.R22W|HSPA14_uc010qbw.1_Missense_Mutation_p.R22W	NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14 isoform 1	22					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			ovary(2)|breast(2)|lung(1)	5						CTAGGATGGCCGGGCTGGTGT	0.448													T	14881910	C	T	14881910	3	4	25	1	0	0	0	0	1	0	0	0	7407	643	23	1	70	1	HSPA14	10	14881910	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1664338	14881910	120652837	678	23114											
CUBN	8029	broad.mit.edu	37	chr10	16948350	16948350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgagtaattcctgactccGtcatagccaggagaagtaaa	9	9	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:16948350G>A	uc001ioo.2	-	50	7816	c.7764C>T	c.(7762-7764)GAC>GAT	p.D2588D	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Translation_Start_Site	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2588	CUB 19.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCCTGACTCCGTCATAGCCAG	0.408													A	16948350	G	A	16948350	2	1	25	1	0	0	0	0	0	0	0	1	4051	1136	40	1		1	CUBN	10	16948350	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2066440	16948350	118586397	679	23115											
KIAA1462	57608	broad.mit.edu	37	chr10	30318027	30318027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggggtttgggatgttctgCgggggcgatctgtatgaggg	20	4	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:30318027C>T	uc001iux.2	-	2	1109	c.1050G>A	c.(1048-1050)CCG>CCA	p.P350P	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.P212P|KIAA1462_uc009xle.1_Silent_p.P350P	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	350	Pro-rich.									ovary(4)	4						GGATGTTCTGCGGGGGCGATC	0.597													T	30318027	C	T	30318027	2	4	25	1	0	0	0	0	0	0	0	1	8234	755	27	1		1	KIAA1462	10	30318027	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	13369677	30318027	105216720	680	23116											
PARD3	56288	broad.mit.edu	37	chr10	34573135	34573135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtatttttattttacccGttttctcaatcttgtcatct	3	10	4	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:34573135G>A	uc010qej.1	-	21	3113	c.3113C>T	c.(3112-3114)ACG>ATG	p.T1038M	PARD3_uc010qek.1_Missense_Mutation_p.T1035M|PARD3_uc010qel.1_Intron|PARD3_uc010qem.1_Missense_Mutation_p.T1022M|PARD3_uc010qen.1_Missense_Mutation_p.T992M|PARD3_uc010qeo.1_Intron|PARD3_uc010qep.1_Missense_Mutation_p.T948M|PARD3_uc010qeq.1_Intron	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	1038	Lys-rich.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)				TATTTTACCCGTTTTCTCAAT	0.343													A	34573135	G	A	34573135	3	1	25	1	0	0	0	0	1	0	0	0	11443	1145	40	1	977	1	PARD3	10	34573135	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	4255108	34573135	100961612	681	23117											
FZD8	8325	broad.mit.edu	37	chr10	35929386	35929386	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgcactaggtagcccacCgacacgaagaggtagcaggc	14	12	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:35929386C>T	uc001iyz.1	-	1	977	c.972G>A	c.(970-972)TCG>TCA	p.S324S		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	324	Helical; Name=2; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0						GGTAGCCCACCGACACGAAGA	0.488													T	35929386	C	T	35929386	2	4	25	1	0	0	0	0	0	0	0	1	6136	639	23	1		1	FZD8	10	35929386	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1356251	35929386	99605361	682	23118											
C10orf10	11067	broad.mit.edu	37	chr10	45472904	45472904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacactgctggggcgggggCggtggcgggaggccatggct	23	9	0	0	rs141296778		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:45472904C>T	uc001jbr.3	-	2	865	c.575G>A	c.(574-576)CGC>CAC	p.R192H	RASSF4_uc001jbo.2_Intron|RASSF4_uc001jbp.2_Intron|RASSF4_uc009xmn.2_Intron|RASSF4_uc001jbq.2_Intron	NM_007021	NP_008952	Q9NTK1	DEPP_HUMAN	fasting-induced protein	192						mitochondrion					0						GGGGCGGGGGCGGTGGCGGGA	0.612													T	45472904	C	T	45472904	3	4	25	1	0	0	0	0	1	0	0	0	1580	768	27	1	67	1	C10orf10	10	45472904	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	9543518	45472904	90061843	683	23119											
PPYR1	5540	broad.mit.edu	37	chr10	47087852	47087852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatctgcccctgtccacaGtacatacggaagtctccaaa	7	14	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:47087852G>A	uc001jee.2	+	3	1488	c.1069G>A	c.(1069-1071)GTA>ATA	p.V357I	ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Missense_Mutation_p.V357I	NM_005972	NP_005963	P50391	NPY4R_HUMAN	pancreatic polypeptide receptor 1	357	Cytoplasmic (Potential).				blood circulation|digestion|feeding behavior	integral to plasma membrane				ovary(1)|skin(1)	2						CCTGTCCACAGTACATACGGA	0.567													A	47087852	G	A	47087852	3	1	25	1	0	0	0	0	1	0	0	0	12416	1029	36	4	1071	4	PPYR1	10	47087852	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1614948	47087852	88446895	684	23120											
MAPK8	5599	broad.mit.edu	37	chr10	49632628	49632628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttgttcccaggtacagatCgtatccttatctttggccta	7	10	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:49632628C>T	uc009xnz.2	+	7	912	c.688C>T	c.(688-690)CAT>TAT	p.H230Y	MAPK8_uc001jgl.2_Missense_Mutation_p.H230Y|MAPK8_uc001jgm.2_Missense_Mutation_p.H230Y|MAPK8_uc001jgo.2_Missense_Mutation_p.H230Y|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Missense_Mutation_p.H230Y|MAPK8_uc010qgk.1_Missense_Mutation_p.H230Y|MAPK8_uc001jgp.2_Intron|MAPK8_uc001jgq.2_Intron	NM_139047	NP_620635	P45983	MK08_HUMAN	mitogen-activated protein kinase 8 isoform JNK1	230	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		AGGTACAGATCGTATCCTTAT	0.363													T	49632628	C	T	49632628	3	4	25	1	0	0	0	0	1	0	0	0	9283	898	31	1	786	1	MAPK8	10	49632628	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2544776	49632628	85902119	685	23121											
ERCC6	2074	broad.mit.edu	37	chr10	50736485	50736485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcctcctccagactggcGtgatctagttcaattttcac	7	13	3	2	rs140876119		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:50736485G>A	uc001jhs.3	-	4	784	c.630C>T	c.(628-630)CAC>CAT	p.H210H	PGBD3_uc009xoe.2_Silent_p.H210H|PGBD3_uc001jhu.2_Silent_p.H210H	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	210					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						CCAGACTGGCGTGATCTAGTT	0.458								Direct_reversal_of_damage|NER					A	50736485	G	A	50736485	2	1	25	1	0	0	0	0	0	0	0	1	5217	1136	40	1		1	ERCC6	10	50736485	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1103857	50736485	84798262	686	23122											
ANK3	288	broad.mit.edu	37	chr10	61941099	61941099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtatacctttgtctgggcGtccacatgagccccttggtt	10	13	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:61941099G>A	uc001jky.2	-	18	2364	c.2172C>T	c.(2170-2172)GAC>GAT	p.D724D	ANK3_uc010qih.1_Silent_p.D707D|ANK3_uc001jkz.3_Silent_p.D718D|ANK3_uc001jlb.1_Silent_p.D253D|ANK3_uc001jlc.1_Silent_p.D385D	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	724	ANK 20.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TTGTCTGGGCGTCCACATGAG	0.493													A	61941099	G	A	61941099	2	1	25	1	0	0	0	0	0	0	0	1	622	1136	40	1		1	ANK3	10	61941099	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	11204614	61941099	73593648	687	23123											
ANK3	288	broad.mit.edu	37	chr10	62021646	62021646	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatccacagcagccgctcGgtttaacagcaacgtggcta	10	12	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:62021646G>A	uc001jky.2	-	7	961	c.769C>T	c.(769-771)CGA>TGA	p.R257*	ANK3_uc010qih.1_Nonsense_Mutation_p.R240*|ANK3_uc001jkz.3_Nonsense_Mutation_p.R251*|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	257	ANK 6.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GCAGCCGCTCGGTTTAACAGC	0.428													A	62021646	G	A	62021646	4	1	25	1	0	0	0	0	0	1	0	0	622	1124	39	1	12845	1	ANK3	10	62021646	Nonsense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	80547	62021646	73513101	688	23124											
ARID5B	84159	broad.mit.edu	37	chr10	63852248	63852248	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccgcagaacattggggcggCgcggccgatcaagcgcagcc	15	15	1	1	rs145564601		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:63852248C>G	uc001jlt.1	+	10	3052	c.3026C>G	c.(3025-3027)GCG>GGG	p.A1009G		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1009					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					ATTGGGGCGGCGCGGCCGATC	0.572													G	63852248	C	G	63852248	3	3	25	1	0	0	0	0	1	0	0	0	922	768	27	5	3064	5	ARID5B	10	63852248	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1830602	63852248	71682499	689	23125											
ARID5B	84159	broad.mit.edu	37	chr10	63852392	63852392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgaaggcagcaaagcagCgcacggtgggcattccgggg	18	9	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:63852392C>T	uc001jlt.1	+	10	3196	c.3170C>T	c.(3169-3171)GCG>GTG	p.A1057V		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1057					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					AGCAAAGCAGCGCACGGTGGG	0.612													T	63852392	C	T	63852392	3	4	25	1	0	0	0	0	1	0	0	0	922	768	27	1	3208	1	ARID5B	10	63852392	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	144	63852392	71682355	690	23126											
MYPN	84665	broad.mit.edu	37	chr10	69935180	69935180	+	Frame_Shift_Del	DEL	A	A	-													cagtgattcgagacttggggAaaaaaataactttcagtgat							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:69935179_69935179GA>G	uc001jnm.4	+	12	2849	c.2664_2664GA>G	c.(2662-2664)gggfs	p.G888fs	MYPN_uc001jnn.4_Frame_Shift_Del_p.G613fs|MYPN_uc001jno.4_Frame_Shift_Del_p.G888fs|MYPN_uc009xpt.3_Frame_Shift_Del_p.G888fs|MYPN_uc010qit.2_Frame_Shift_Del_p.G594fs|MYPN_uc010qiu.2_Intron	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	888						nucleus|sarcomere	actin binding	p.G888G(2)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GAGACTTGGGGAAAAAAATAA	0.363													-	69935180	A	-	69935180	7	5	25	1	0	1	0	1	0	0	0	0	10098	247	9	0	2707	0	MYPN	10	69935180	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	6082788	69935180	65599567	691	23127											
TET1	80312	broad.mit.edu	37	chr10	70451314	70451314	+	Frame_Shift_Del	DEL	A	A	-													cccttgtcttttaccagcacAaaaacctaaataagccccaa							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:70451313_70451313CA>C	uc001jok.4	+	11	6658	c.6153_6153CA>C	c.(6151-6153)cacfs	p.H2051fs		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	2051					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTTACCAGCACAAAAACCTAA	0.448													-	70451314	A	-	70451314	7	5	25	1	0	1	0	1	0	0	0	0	15766	131	5	0	6196	0	TET1	10	70451314	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	516134	70451314	65083433	692	23128											
KIAA1274	27143	broad.mit.edu	37	chr10	72324139	72324139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgaaggcagcgaaagaggCgcaagaaatgcggaggctgc	18	8	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:72324139C>T	uc001jrd.3	+	19	2563	c.2282C>T	c.(2281-2283)GCG>GTG	p.A761V	KIAA1274_uc001jre.3_Missense_Mutation_p.A52V	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	761										ovary(2)|central_nervous_system(1)	3						GCGAAAGAGGCGCAAGAAATG	0.617													T	72324139	C	T	72324139	3	4	25	1	0	0	0	0	1	0	0	0	8220	768	27	1	2352	1	KIAA1274	10	72324139	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1872825	72324139	63210608	693	23129											
CDH23	64072	broad.mit.edu	37	chr10	73453968	73453968	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatacatcctcatcgttcgCgcagtggacgggggtgtggg	16	9	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:73453968C>T	uc001jrx.3	+	20	2618	c.2241C>T	c.(2239-2241)CGC>CGT	p.R747R	CDH23_uc001jry.2_Silent_p.R363R|CDH23_uc001jrz.2_Silent_p.R363R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	747	Cadherin 7.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						TCATCGTTCGCGCAGTGGACG	0.627													T	73453968	C	T	73453968	2	4	25	1	0	0	0	0	0	0	0	1	3108	755	27	1		1	CDH23	10	73453968	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1129829	73453968	62080779	694	23130											
PLAU	5328	broad.mit.edu	37	chr10	75673438	75673439	+	Frame_Shift_Ins	INS	-	-	G													gccatctacaggaggcaccgINSggggggctctgtcacctacg					rs145070893	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:75673437_75673438C>CG	uc001jwa.3	+	6	747_748	c.601_602C>CG	c.(601-603)cggfs	p.R201fs	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Frame_Shift_Ins_p.R184fs|PLAU_uc010qkx.2_Frame_Shift_Ins_p.R115fs|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Frame_Shift_Ins_p.R201fs|PLAU_uc009xrq.1_Frame_Shift_Ins_p.R165fs	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	201	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	CAGGAGGCACCGGGGGGGCTCT	0.589													G	75673439	-	G	75673438	7	5	25	1	0	1	1	0	0	0	0	0	12022	1116	39	0	662	0	PLAU	10	75673438	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	2219470	75673438	59861309	695	23131											
DLG5	9231	broad.mit.edu	37	chr10	79576781	79576781	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttacctctctcggagcccacGacactccgcggatatcttgg	9	15	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:79576781G>A	uc001jzk.2	-	19	3928	c.3858C>T	c.(3856-3858)GTC>GTT	p.V1286V	DLG5_uc001jzi.2_Silent_p.V41V|DLG5_uc001jzj.2_Silent_p.V701V|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Silent_p.V890V	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1286					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CGGAGCCCACGACACTCCGCG	0.493													A	79576781	G	A	79576781	2	1	25	1	0	0	0	0	0	0	0	1	4558	1045	37	1		1	DLG5	10	79576781	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3903343	79576781	55957966	696	23132											
POLR3A	11128	broad.mit.edu	37	chr10	79752975	79752975	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgatgttgtccagaacccTtttaaactccaaaggttcat	6	9	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:79752975T>C	uc001jzn.2	-	20	2861	c.2767A>G	c.(2767-2769)AGG>GGG	p.R923G		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	923					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TCCAGAACCCTTTTAAACTCC	0.398													C	79752975	T	C	79752975	3	2	25	1	0	0	0	0	1	0	0	0	12228	1608	56	3	1453	3	POLR3A	10	79752975	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	176194	79752975	55781772	697	23133											
MAT1A	4143	broad.mit.edu	37	chr10	82033576	82033576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacctcccatgggaactcGcttcttccgaaatggccgta	10	13	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:82033576G>A	uc001kbw.2	-	9	1404	c.1149C>T	c.(1147-1149)AGC>AGT	p.S383S		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	383					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	ATGGGAACTCGCTTCTTCCGA	0.557													A	82033576	G	A	82033576	2	1	25	1	0	0	0	0	0	0	0	1	9329	1078	38	1		1	MAT1A	10	82033576	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2280601	82033576	53501171	698	23134											
LDB3	11155	broad.mit.edu	37	chr10	88439846	88439846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtttctacagatcaaagCgtcccattcccatctccacg	6	15	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:88439846C>T	uc001kdv.2	+	3	276	c.253C>T	c.(253-255)CGT>TGT	p.R85C	LDB3_uc010qml.1_Missense_Mutation_p.R85C|LDB3_uc010qmm.1_Missense_Mutation_p.R85C|LDB3_uc001kdu.2_Missense_Mutation_p.R85C|LDB3_uc009xsz.2_5'UTR|LDB3_uc001kdr.2_Missense_Mutation_p.R85C|LDB3_uc009xsy.2_Missense_Mutation_p.R85C|LDB3_uc001kds.2_Missense_Mutation_p.R85C|LDB3_uc001kdt.2_RNA	NM_007078	NP_009009	O75112	LDB3_HUMAN	LIM domain binding 3 isoform 1	85						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			ovary(1)	1						CAGATCAAAGCGTCCCATTCC	0.607													T	88439846	C	T	88439846	3	4	25	1	0	0	0	0	1	0	0	0	8697	768	27	1	263	1	LDB3	10	88439846	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	6406270	88439846	47094901	699	23135											
LIPA	3988	broad.mit.edu	37	chr10	91005477	91005477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaggaattcggttaaggCacagaatatatccatcttct	8	8	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:91005477C>T	uc001kga.3	-	3	353	c.185G>A	c.(184-186)TGC>TAC	p.C62Y	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|LIPA_uc009xtq.2_Missense_Mutation_p.C62Y	NM_000235	NP_000226	P38571	LICH_HUMAN	lipase A precursor	62					lipid catabolic process	lysosome	lipase activity|sterol esterase activity				0		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		TCGGTTAAGGCACAGAATATA	0.393													T	91005477	C	T	91005477	3	4	25	1	0	0	0	0	1	0	0	0	8819	710	25	2	1046	2	LIPA	10	91005477	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2565631	91005477	44529270	700	23136											
IFIT1B	439996	broad.mit.edu	37	chr10	91143252	91143252	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacaacctactagcctatgTgaaacacctgaaaggccaga	7	12	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:91143252T>C	uc001kgh.2	+	2	262	c.182T>C	c.(181-183)GTG>GCG	p.V61A	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	interferon-induced protein with	61	TPR 1.|Potential.						binding				0						CTAGCCTATGTGAAACACCTG	0.428													C	91143252	T	C	91143252	3	2	25	1	0	0	0	0	1	0	0	0	7522	1696	59	3	188	3	IFIT1B	10	91143252	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	137775	91143252	44391495	701	23137											
HTR7	3363	broad.mit.edu	37	chr10	92508866	92508866	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcgagaggaggaaaaatGgcagccagcacacggtaaag	14	8	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:92508866G>T	uc001kha.2	-	2	1268	c.1025C>A	c.(1024-1026)CCA>CAA	p.P342Q	HTR7_uc001kgz.2_Missense_Mutation_p.P342Q|HTR7_uc001khb.2_Missense_Mutation_p.P342Q	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	342	Helical; Name=6; (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GAGGAAAAATGGCAGCCAGCA	0.537													T	92508866	G	T	92508866	3	4	25	1	0	0	0	0	1	0	0	0	7452	1348	47	5	430	5	HTR7	10	92508866	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1365614	92508866	43025881	702	23138											
PPP1R3C	5507	broad.mit.edu	37	chr10	93389996	93389996	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaatggcaaatgagaaggtAtcactatctgtgccaccata	8	9	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:93389996A>T	uc001kho.2	-	2	774	c.642T>A	c.(640-642)GAT>GAA	p.D214E		NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory (inhibitor)	214	Interaction with EPM2A.|CBM21.						protein serine/threonine phosphatase activity			breast(1)	1		Colorectal(252;0.235)				ATGAGAAGGTATCACTATCTG	0.403													T	93389996	A	T	93389996	3	4	25	1	0	0	0	0	1	0	0	0	12373	446	16	5	315	5	PPP1R3C	10	93389996	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	881130	93389996	42144751	703	23139											
MARCH5	54708	broad.mit.edu	37	chr10	94109437	94109437	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttcctctagggataggttGtcctgttcctcgaattccag	9	10	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:94109437G>T	uc001khx.1	+	5	895	c.563G>T	c.(562-564)TGT>TTT	p.C188F	MARCH5_uc010qno.1_Missense_Mutation_p.C84F	NM_017824	NP_060294	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	188					cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1						GGGATAGGTTGTCCTGTTCCT	0.413													T	94109437	G	T	94109437	3	4	25	1	0	0	0	0	1	0	0	0	9304	1377	48	5	581	5	MARCH5	10	94109437	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	719441	94109437	41425310	704	23140											
MYOF	26509	broad.mit.edu	37	chr10	95113648	95113648	+	Splice_Site	DEL	A	A	-													gatggtagatgtagactcctAaaaaaacaggataaagatta							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:95113647_95113647TA>T	uc001kin.3	-	32	3527	c.3404_splice	c.e32-1	p.R1135_splice	MYOF_uc001kio.3_Splice_Site_p.R1122_splice|MYOF_uc009xue.3_Splice_Site	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1135	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGTAGACTCCTAAAAAAACAG	0.343													-	95113648	A	-	95113648	8	5	25	1	0	1	0	1	0	0	1	0	10089	377	13	0		0	MYOF	10	95113648	Splice_Site	DEL	A	TCGA-BR-4370-01A-01D-1158-08	1004211	95113648	40421099	705	23141											
TBC1D12	23232	broad.mit.edu	37	chr10	96259980	96259980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcctttaattctaggcGtagtacaagaagagttcgag	9	9	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:96259980G>A	uc001kjr.2	+	6	1600	c.1415G>A	c.(1414-1416)CGT>CAT	p.R472H		NM_015188	NP_056003	O60347	TBC12_HUMAN	TBC1 domain family, member 12	472						intracellular	Rab GTPase activator activity				0		Colorectal(252;0.0429)				AATTCTAGGCGTAGTACAAGA	0.393													A	96259980	G	A	96259980	3	1	25	1	0	0	0	0	1	0	0	0	15598	1145	40	1	1437	1	TBC1D12	10	96259980	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1146332	96259980	39274767	706	23142											
HELLS	3070	broad.mit.edu	37	chr10	96333921	96333921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgatgcgatggtaccaaGtagaaggcatggaatggctt	15	5	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:96333921G>A	uc001kjt.2	+	8	787	c.682G>A	c.(682-684)GTA>ATA	p.V228I	HELLS_uc001kjs.2_Missense_Mutation_p.V212I|HELLS_uc009xul.2_Missense_Mutation_p.V228I|HELLS_uc009xum.2_Missense_Mutation_p.V228I|HELLS_uc009xun.2_Missense_Mutation_p.V104I|HELLS_uc009xuo.2_Missense_Mutation_p.V228I|HELLS_uc001kju.2_5'UTR|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Missense_Mutation_p.V90I|HELLS_uc009xur.2_RNA	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	228					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			ovary(1)|kidney(1)	2		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		ATGGTACCAAGTAGAAGGCAT	0.388													A	96333921	G	A	96333921	3	1	25	1	0	0	0	0	1	0	0	0	7046	1029	36	4	712	4	HELLS	10	96333921	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	73941	96333921	39200826	707	23143											
CYP2C19	1557	broad.mit.edu	37	chr10	96535238	96535238	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggatggggaagaggagcatTgaggaccgtgttcaagagga	19	4	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:96535238T>C	uc010qnz.1	+	3	423	c.423T>C	c.(421-423)ATT>ATC	p.I141I	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Silent_p.I119I	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	141					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AGAGGAGCATTGAGGACCGTG	0.507													C	96535238	T	C	96535238	2	2	25	1	0	0	0	0	0	0	0	1	4166	1800	63	3		3	CYP2C19	10	96535238	Silent	SNP	T	TCGA-BR-4370-01A-01D-1158-08	201317	96535238	38999509	708	23144											
SLIT1	6585	broad.mit.edu	37	chr10	98823348	98823348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaggccaggtggcagtcGcaaaacaggtggttggagtg	17	8	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:98823348G>A	uc001kmw.2	-	8	909	c.657C>T	c.(655-657)TGC>TGT	p.C219C	SLIT1_uc009xvh.1_Silent_p.C219C	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	219	LRRCT 1.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGTGGCAGTCGCAAAACAGGT	0.642													A	98823348	G	A	98823348	2	1	25	1	0	0	0	0	0	0	0	1	14739	1079	38	1		1	SLIT1	10	98823348	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2288110	98823348	36711399	709	23145											
CRTAC1	55118	broad.mit.edu	37	chr10	99677361	99677361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcaatgagggcatcagggCccacattaccgtaggcgtaa	11	10	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:99677361C>T	uc001kou.1	-	5	967	c.611G>A	c.(610-612)GGC>GAC	p.G204D	CRTAC1_uc001kov.2_Missense_Mutation_p.G193D|CRTAC1_uc001kot.1_5'UTR	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	204						proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GGCATCAGGGCCCACATTACC	0.572													T	99677361	C	T	99677361	3	4	25	1	0	0	0	0	1	0	0	0	3896	739	26	2	1418	2	CRTAC1	10	99677361	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	854013	99677361	35857386	710	23146											
LBX1	10660	broad.mit.edu	37	chr10	102988431	102988431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagcgagtaacttctccGcacagacggcttgttgagga	12	11	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:102988431G>A	uc001ksx.2	-	1	287	c.142C>T	c.(142-144)CGG>TGG	p.R48W	uc010qpy.1_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	ladybird homeobox 1	48				LTPFSIEDILNKPSVRRSYSLCGAAHLLAAADKHAQGGLP -> YAVQHRGHPQQAVRAEKLLAAWGGAPAGRRGQARAGRL A (in Ref. 1; CAA62342).	muscle organ development		sequence-specific DNA binding				0		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		TAACTTCTCCGCACAGACGGC	0.711													A	102988431	G	A	102988431	3	1	25	1	0	0	0	0	1	0	0	0	8653	1086	38	1	711	1	LBX1	10	102988431	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3311070	102988431	32546316	711	23147											
GBF1	8729	broad.mit.edu	37	chr10	104018769	104018769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccatcaaacgaaatgcccGatggagcacccatacaccac	8	15	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:104018769G>A	uc001kux.1	+	2	314	c.74G>A	c.(73-75)CGA>CAA	p.R25Q	GBF1_uc001kuw.2_Missense_Mutation_p.R25Q|GBF1_uc001kuy.1_Missense_Mutation_p.R25Q|GBF1_uc001kuz.1_Missense_Mutation_p.R25Q	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	25					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CGAAATGCCCGATGGAGCACC	0.413													A	104018769	G	A	104018769	3	1	25	1	0	0	0	0	1	0	0	0	6271	1058	37	1	76	1	GBF1	10	104018769	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1030338	104018769	31515978	712	23148											
NT5C2	22978	broad.mit.edu	37	chr10	104934693	104934693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatctgctgcattctgtaacCgatcactccaggaggttgac	9	11	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:104934693C>T	uc001kwo.2	-	3	209	c.23G>A	c.(22-24)CGG>CAG	p.R8Q	NT5C2_uc001kwq.2_Missense_Mutation_p.R8Q|NT5C2_uc001kwp.2_Intron	NM_012229	NP_036361	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	8					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding				0		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	ATTCTGTAACCGATCACTCCA	0.338													T	104934693	C	T	104934693	3	4	25	1	0	0	0	0	1	0	0	0	10687	652	23	1	1730	1	NT5C2	10	104934693	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	915924	104934693	30600054	713	23149											
PDCD11	22984	broad.mit.edu	37	chr10	105178356	105178356	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaggtgacatccttcacCgagtcctgtgtctgagccag	12	12	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:105178356C>T	uc001kwy.1	+	15	2158	c.2071C>T	c.(2071-2073)CGA>TGA	p.R691*		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	691	S1 motif 7.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CATCCTTCACCGAGTCCTGTG	0.567													T	105178356	C	T	105178356	4	4	25	1	0	0	0	0	0	1	0	0	11617	644	23	1	2125	1	PDCD11	10	105178356	Nonsense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	243663	105178356	30356391	714	23150											
COL17A1	1308	broad.mit.edu	37	chr10	105816869	105816869	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaagggccgccgccagcGccaccaacaccgccacctcc	8	24	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:105816869G>A	uc001kxr.2	-	17	1498	c.1329C>T	c.(1327-1329)GGC>GGT	p.G443G	COL17A1_uc010qqv.1_Silent_p.G427G	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	443	Cytoplasmic (Potential).|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		cgccgccagcgccaccaacac	0.463													A	105816869	G	A	105816869	2	1	25	1	0	0	0	0	0	0	0	1	3674	1074	38	1		1	COL17A1	10	105816869	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	638513	105816869	29717878	715	23151											
ABLIM1	3983	broad.mit.edu	37	chr10	116232891	116232891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctcattgtctacttttgCctggcaaagttaaccagaaa	7	9	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:116232891C>T	uc010qsg.1	-	10	1219	c.1120G>A	c.(1120-1122)GCA>ACA	p.A374T	ABLIM1_uc010qsh.1_Missense_Mutation_p.A342T|ABLIM1_uc010qsi.1_Missense_Mutation_p.A314T|ABLIM1_uc010qsk.1_Missense_Mutation_p.A298T|ABLIM1_uc009xyp.2_Missense_Mutation_p.A336T|ABLIM1_uc010qsf.1_Missense_Mutation_p.A86T|ABLIM1_uc009xyn.2_Missense_Mutation_p.A25T|ABLIM1_uc010qsj.1_Missense_Mutation_p.A51T|ABLIM1_uc009xyo.2_Missense_Mutation_p.A222T	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	374					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TCTACTTTTGCCTGGCAAAGT	0.393													T	116232891	C	T	116232891	3	4	25	1	0	0	0	0	1	0	0	0	94	753	26	2	1268	2	ABLIM1	10	116232891	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	10416022	116232891	19301856	716	23152											
GFRA1	2674	broad.mit.edu	37	chr10	118030416	118030416	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgcttgcagcggcagttgtaGagcgacttctgcttcagggc	14	11	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:118030416G>A	uc001lcj.2	-	3	950	c.252C>T	c.(250-252)CTC>CTT	p.L84L	GFRA1_uc001lci.2_Silent_p.L84L|GFRA1_uc009xyr.2_Silent_p.L84L	NM_005264	NP_005255	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1 isoform a	84	1.				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			ovary(1)|pancreas(1)	2		Lung NSC(174;0.21)		all cancers(201;0.0337)		GGCAGTTGTAGAGCGACTTCT	0.612													A	118030416	G	A	118030416	2	1	25	1	0	0	0	0	0	0	0	1	6347	929	33	4		4	GFRA1	10	118030416	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1797525	118030416	17504331	717	23153											
PNLIP	5406	broad.mit.edu	37	chr10	118313341	118313341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaccaatgggaccattggaCgcatcacaggttggtgaaaa	12	8	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:118313341C>T	uc001lcm.2	+	6	605	c.562C>T	c.(562-564)CGC>TGC	p.R188C		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor	188					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|skin(1)	3				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	GACCATTGGACGCATCACAGG	0.373													T	118313341	C	T	118313341	3	4	25	1	0	0	0	0	1	0	0	0	12149	536	19	1	580	1	PNLIP	10	118313341	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	282925	118313341	17221406	718	23154											
BAG3	9531	broad.mit.edu	37	chr10	121429560	121429560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgattccgaactgaggcGgcagcagcggctcctcagag	14	13	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:121429560G>A	uc001lem.2	+	2	684	c.378G>A	c.(376-378)GCG>GCA	p.A126A	BAG3_uc001lel.2_Silent_p.A126A	NM_004281	NP_004272	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	126	WW 2.				anti-apoptosis|apoptosis|protein folding	cytosol				ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GAACTGAGGCGGCAGCAGCGG	0.617													A	121429560	G	A	121429560	2	1	25	1	0	0	0	0	0	0	0	1	1288	1103	39	1		1	BAG3	10	121429560	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3116219	121429560	14105187	719	23155											
ACADSB	36	broad.mit.edu	37	chr10	124810661	124810661	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttagaagctggaaagccaTtcataaaagaagcgtcaatg	9	6	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:124810661T>C	uc001lhb.2	+	9	1204	c.1087T>C	c.(1087-1089)TTC>CTC	p.F363L	ACADSB_uc010qub.1_Missense_Mutation_p.F261L	NM_001609	NP_001600	P45954	ACDSB_HUMAN	acyl-Coenzyme A dehydrogenase, short/branched	363					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	TGGAAAGCCATTCATAAAAGA	0.378													C	124810661	T	C	124810661	3	2	25	1	0	0	0	0	1	0	0	0	115	1493	52	3	1121	3	ACADSB	10	124810661	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	3381101	124810661	10724086	720	23156											
HMX2	3167	broad.mit.edu	37	chr10	124909353	124909353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacctgagcagctcggagcGcgcctgcctcgcctccagcc	11	19	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:124909353G>A	uc001lhc.1	+	2	793	c.536G>A	c.(535-537)CGC>CAC	p.R179H		NM_005519	NP_005510	A2RU54	HMX2_HUMAN	H6 family homeobox 2	179	Homeobox.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		AGCTCGGAGCGCGCCTGCCTC	0.637													A	124909353	G	A	124909353	3	1	25	1	0	0	0	0	1	0	0	0	7247	1087	38	1	542	1	HMX2	10	124909353	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	98692	124909353	10625394	721	23157											
CPXM2	119587	broad.mit.edu	37	chr10	125528209	125528209	+	Frame_Shift_Del	DEL	C	C	-													cagcacctcattgccgtgggCccccgcgatgtagtggaact							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:125528208_125528208GC>G	uc001lhk.1	-	8	1458	c.1133_1133GC>C	c.(1132-1134)gccfs	p.A378fs	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	378					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ATTGCCGTGGGCCCCCGCGAT	0.587													-	125528209	C	-	125528209	7	5	25	1	0	1	0	1	0	0	0	0	3838	739	26	0	1162	0	CPXM2	10	125528209	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	618856	125528209	10006538	722	23158											
DOCK1	1793	broad.mit.edu	37	chr10	128851016	128851016	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaaatgagcagctgtacaAagccatgaaagcgctagaat	10	7	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:128851016A>C	uc001ljt.2	+	22	2274	c.2210A>C	c.(2209-2211)AAA>ACA	p.K737T	DOCK1_uc010qun.1_Missense_Mutation_p.K758T	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	737					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAGCTGTACAAAGCCATGAAA	0.488													C	128851016	A	C	128851016	3	2	25	1	0	0	0	0	1	0	0	0	4684	14	1	5	2296	5	DOCK1	10	128851016	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	3322807	128851016	6683731	723	23159											
PTPRE	5791	broad.mit.edu	37	chr10	129845712	129845712	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggctgctactgccgctgctGctcctcctcctcgtgctcct	9	18	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:129845712G>C	uc001lkb.2	+	4	447	c.168G>C	c.(166-168)CTG>CTC	p.L56L	PTPRE_uc009yat.2_Silent_p.L67L|PTPRE_uc010qup.1_RNA|PTPRE_uc009yau.2_Silent_p.L56L|PTPRE_uc001lkc.1_RNA|PTPRE_uc001lkd.2_5'Flank|PTPRE_uc010quq.1_5'Flank	NM_006504	NP_006495	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	56	Helical; (Potential).				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(1)	1		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TGCCGCTGCTGCTCCTCCTCC	0.642													C	129845712	G	C	129845712	2	2	25	1	0	0	0	0	0	0	0	1	12800	1306	46	5		5	PTPRE	10	129845712	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	994696	129845712	5689035	724	23160											
DPYSL4	10570	broad.mit.edu	37	chr10	134004293	134004293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgggaggatcgtgaatgacGaccagtccttttacgctgat	13	8	0	3	rs149476256		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:134004293G>A	uc009ybb.2	+	2	236	c.82G>A	c.(82-84)GAC>AAC	p.D28N		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	28					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CGTGAATGACGACCAGTCCTT	0.463													A	134004293	G	A	134004293	3	1	25	1	0	0	0	0	1	0	0	0	4749	1058	37	1	88	1	DPYSL4	10	134004293	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	4158581	134004293	1530454	725	23161											
KNDC1	85442	broad.mit.edu	37	chr10	134999950	134999950	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgcaggctgtggccggaGcaggagccggaacaccagct	15	11	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:134999950G>A	uc001llz.1	+	6	1099	c.1098G>A	c.(1096-1098)GAG>GAA	p.E366E	KNDC1_uc001lma.1_Silent_p.E301E	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	366					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGTGGCCGGAGCAGGAGCCGG	0.627													A	134999950	G	A	134999950	2	1	25	1	0	0	0	0	0	0	0	1	8426	962	34	2		2	KNDC1	10	134999950	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	995657	134999950	534797	726	23162											
C11orf35	256329	broad.mit.edu	37	chr11	558939	558939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcgggggctgcaggtgcGcctgctggaggtcccaggtg	19	11	1	0	rs114586011	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:558939G>A	uc001lpx.2	-	2	138	c.75C>T	c.(73-75)GGC>GGT	p.G25G	uc001lpy.2_RNA|uc001lpz.2_5'Flank|RASSF7_uc001lqa.2_5'Flank|RASSF7_uc001lqb.2_5'Flank|RASSF7_uc001lqc.2_5'Flank|RASSF7_uc001lqd.2_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	hypothetical protein LOC256329	25										pancreas(1)	1		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGCAGGTGCGCCTGCTGGAG	0.667													A	558939	G	A	558939	2	1	25	1	0	0	0	0	0	0	0	1	1638	1074	38	1		1	C11orf35	11	558939	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08		558939	134447577	727	23163											
PHRF1	57661	broad.mit.edu	37	chr11	609248	609248	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctggattatggcgactcCgtggaggccggacacgtctt	14	11	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:609248C>T	uc001lqe.2	+	14	3923	c.3792C>T	c.(3790-3792)TCC>TCT	p.S1264S	PHRF1_uc010qwc.1_Silent_p.S1263S|PHRF1_uc010qwd.1_Silent_p.S1262S|PHRF1_uc010qwe.1_Silent_p.S1260S|PHRF1_uc009ybz.1_Silent_p.S1054S|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1264							RNA polymerase binding|zinc ion binding				0						ATGGCGACTCCGTGGAGGCCG	0.607													T	609248	C	T	609248	2	4	25	1	0	0	0	0	0	0	0	1	11861	639	23	1		1	PHRF1	11	609248	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	50309	609248	134397268	728	23164											
AP2A2	161	broad.mit.edu	37	chr11	993321	993321	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgccacgagaacctggtcaAagtgggcggctacatcctgg	14	11	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:993321A>G	uc001lss.2	+	12	1671	c.1490A>G	c.(1489-1491)AAA>AGA	p.K497R	AP2A2_uc001lst.1_Missense_Mutation_p.K498R|AP2A2_uc009yco.1_RNA|AP2A2_uc009ycq.1_Missense_Mutation_p.K88R	NM_012305	NP_036437	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2	497					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACCTGGTCAAAGTGGGCGGC	0.627													G	993321	A	G	993321	3	3	25	1	0	0	0	0	1	0	0	0	740	14	1	3	1536	3	AP2A2	11	993321	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	384073	993321	134013195	729	23165											
MUC6	4588	broad.mit.edu	37	chr11	1018685	1018685	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctggctgtggggtggtTgggcctgtggtgcttgctgg	20	7	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:1018685T>C	uc001lsw.2	-	31	4167	c.4116A>G	c.(4114-4116)CCA>CCG	p.P1372P		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1372	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGGGTGGTTGGGCCTGTGG	0.582													C	1018685	T	C	1018685	2	2	25	1	0	0	0	0	0	0	0	1	9980	1799	63	3		3	MUC6	11	1018685	Silent	SNP	T	TCGA-BR-4370-01A-01D-1158-08	25364	1018685	133987831	730	23166											
MUC5B	727897	broad.mit.edu	37	chr11	1250991	1250991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccctgcacccacggcggcCgcacctacagcccgggcacc	11	22	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:1250991C>T	uc009ycr.1	+	26	3277	c.3151C>T	c.(3151-3153)CGC>TGC	p.R1051C	MUC5B_uc009yct.1_Missense_Mutation_p.R392C|MUC5B_uc001ltb.2_Missense_Mutation_p.R395C|MUC5B_uc001lta.2_Missense_Mutation_p.R60C	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	392				RT -> TR (in Ref. 2; AAC67545).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACGGCGGCCGCACCTACAG	0.697													T	1250991	C	T	1250991	3	4	25	1	0	0	0	0	1	0	0	0	9979	652	23	1	1221	1	MUC5B	11	1250991	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	232306	1250991	133755525	731	23167											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606223	1606224	+	Frame_Shift_Ins	INS	-	-	T													acaagagccacagcccccctINStgcagcctccacaggagcca							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:1606222_1606223C>CT	uc001ltu.1	-	0	291_292	c.257_258G>AG	c.(256-258)aagfs	p.K86fs	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA.	86	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACAGCCCCCCTTGCAGCCTCC	0.668													T	1606224	-	T	1606223	7	5	25	1	0	1	1	0	0	0	0	0	8558	1609	56	0	583	0	KRTAP5-1	11	1606223	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	355232	1606223	133400293	732	23168											
MRGPRE	116534	broad.mit.edu	37	chr11	3249826	3249826	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccaaggaagatgagatcCgcgcaggccacgtccaggag	14	12	0	2	rs34568544		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:3249826C>T	uc001lxq.3	-	2	511	c.201G>A	c.(199-201)GCG>GCA	p.A67A		NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	67	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGATGAGATCCGCGCAGGCCA	0.642													T	3249826	C	T	3249826	2	4	25	1	0	0	0	0	0	0	0	1	9764	639	23	1		1	MRGPRE	11	3249826	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1643603	3249826	131756690	733	23169											
ZNF195	7748	broad.mit.edu	37	chr11	3392215	3392215	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccacccacctggatgtccGtctgctgcctcctgtctctt	7	18	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:3392215G>A	uc001lxt.2	-	3	394	c.216C>T	c.(214-216)GAC>GAT	p.D72D	ZNF195_uc001lxv.2_Silent_p.D72D|ZNF195_uc001lxs.2_Silent_p.D72D|ZNF195_uc010qxr.1_Silent_p.D76D|ZNF195_uc009ydz.2_Silent_p.D76D|ZNF195_uc001lxu.2_Silent_p.D76D	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	zinc finger protein 195 isoform 1	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTGGATGTCCGTCTGCTGCCT	0.522													A	3392215	G	A	3392215	2	1	25	1	0	0	0	0	0	0	0	1	17755	1136	40	1		1	ZNF195	11	3392215	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	142389	3392215	131614301	734	23170											
OR56A3	390083	broad.mit.edu	37	chr11	5969078	5969078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccatccccatcctttcaGcacaactccgttattgtgga	6	15	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:5969078G>A	uc010qzt.1	+	1	502	c.502G>A	c.(502-504)GCA>ACA	p.A168T		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A,	168	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCCTTTCAGCACAACTCCG	0.433													A	5969078	G	A	5969078	3	1	25	1	0	0	0	0	1	0	0	0	11134	971	34	2	504	2	OR56A3	11	5969078	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2576863	5969078	129037438	735	23171											
TRIM3	10612	broad.mit.edu	37	chr11	6477741	6477741	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgcgcactggctgtccGtagagcagcaccgagaggag	15	13	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:6477741G>A	uc001mdh.2	-	7	1602	c.1215C>T	c.(1213-1215)TAC>TAT	p.Y405Y	TRIM3_uc001mdi.2_Silent_p.Y405Y|TRIM3_uc010raj.1_Silent_p.Y286Y|TRIM3_uc009yfd.2_Silent_p.Y405Y|TRIM3_uc010rak.1_Silent_p.Y405Y|TRIM3_uc001mdj.2_Silent_p.Y286Y	NM_006458	NP_006449	O75382	TRIM3_HUMAN	tripartite motif-containing 3	405	Filamin.				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGCTGTCCGTAGAGCAGCA	0.667													A	6477741	G	A	6477741	2	1	25	1	0	0	0	0	0	0	0	1	16501	1140	40	1		1	TRIM3	11	6477741	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	508663	6477741	128528775	736	23172											
DNHD1	144132	broad.mit.edu	37	chr11	6532612	6532612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagaagcataaggctctaCggctgctccatcgttgccta	11	11	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:6532612C>T	uc001mdw.3	+	7	1909	c.1345C>T	c.(1345-1347)CGG>TGG	p.R449W	DNHD1_uc001mdp.2_Missense_Mutation_p.R449W|DNHD1_uc001mdq.2_Missense_Mutation_p.R138W	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	449					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TAAGGCTCTACGGCTGCTCCA	0.547													T	6532612	C	T	6532612	3	4	25	1	0	0	0	0	1	0	0	0	4668	527	19	1	1363	1	DNHD1	11	6532612	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	54871	6532612	128473904	737	23173											
TUB	7275	broad.mit.edu	37	chr11	8122081	8122081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaggcttcaaggggcctcGgaagatgagcgtgattgtcc	14	9	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:8122081G>A	uc001mga.2	+	10	1297	c.1148G>A	c.(1147-1149)CGG>CAG	p.R383Q	TUB_uc010rbk.1_Missense_Mutation_p.R389Q|TUB_uc001mfy.2_Missense_Mutation_p.R438Q	NM_177972	NP_813977	P50607	TUB_HUMAN	tubby isoform b	383					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				ovary(1)	1		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AAGGGGCCTCGGAAGATGAGC	0.567													A	8122081	G	A	8122081	3	1	25	1	0	0	0	0	1	0	0	0	16739	1116	39	1	1397	1	TUB	11	8122081	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1589469	8122081	126884435	738	23174											
TUB	7275	broad.mit.edu	37	chr11	8123105	8123105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattacaactacccgctgtGtgcactgcaggcctttgcca	10	13	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:8123105G>A	uc001mga.2	+	12	1609	c.1460G>A	c.(1459-1461)TGT>TAT	p.C487Y	TUB_uc010rbk.1_Missense_Mutation_p.C493Y|TUB_uc001mfy.2_Missense_Mutation_p.C542Y	NM_177972	NP_813977	P50607	TUB_HUMAN	tubby isoform b	487					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				ovary(1)	1		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		TACCCGCTGTGTGCACTGCAG	0.597													A	8123105	G	A	8123105	3	1	25	1	0	0	0	0	1	0	0	0	16739	1377	48	4	1717	4	TUB	11	8123105	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1024	8123105	126883411	739	23175											
NRIP3	56675	broad.mit.edu	37	chr11	9007341	9007341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccactactttgagatgcCggggtagagaaagcttttct	12	9	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:9007341C>T	uc001mhg.2	-	4	593	c.479G>A	c.(478-480)CGG>CAG	p.R160Q	NRIP3_uc010rbu.1_Intron	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	160					proteolysis		aspartic-type endopeptidase activity				0				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		TTTGAGATGCCGGGGTAGAGA	0.512													T	9007341	C	T	9007341	3	4	25	1	0	0	0	0	1	0	0	0	10654	652	23	1	262	1	NRIP3	11	9007341	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	884236	9007341	125999175	740	23176											
SBF2	81846	broad.mit.edu	37	chr11	10050062	10050062	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagactatcatgtaaaggagTctggatcaactgtctatctc	8	8	5	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:10050062T>C	uc001mib.2	-	6	694	c.556A>G	c.(556-558)ACT>GCT	p.T186A	SBF2_uc001mif.3_5'UTR|SBF2_uc001mij.2_RNA	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	186	DENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TGTAAAGGAGTCTGGATCAAC	0.423													C	10050062	T	C	10050062	3	2	25	1	0	0	0	0	1	0	0	0	13859	1667	58	3	5133	3	SBF2	11	10050062	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	1042721	10050062	124956454	741	23177											
GALNTL4	374378	broad.mit.edu	37	chr11	11470334	11470334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccggtccaggggcaggcGgtcgctgaggtaggcgttgt	21	9	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:11470334G>A	uc001mjo.2	-	2	806	c.385C>T	c.(385-387)CGC>TGC	p.R129C		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	129	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		AGGGGCAGGCGGTCGCTGAGG	0.657													A	11470334	G	A	11470334	3	1	25	1	0	0	0	0	1	0	0	0	6223	1116	39	1	1478	1	GALNTL4	11	11470334	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1420272	11470334	123536182	742	23178											
MICAL2	9645	broad.mit.edu	37	chr11	12225908	12225908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccttctcccggaacaacGtgctacacctctggcctttc	6	17	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:12225908G>A	uc001mjz.2	+	4	664	c.376G>A	c.(376-378)GTG>ATG	p.V126M	MICAL2_uc010rch.1_Missense_Mutation_p.V126M|MICAL2_uc001mjy.2_Missense_Mutation_p.V126M|MICAL2_uc001mka.2_Missense_Mutation_p.V126M|MICAL2_uc010rci.1_Missense_Mutation_p.V126M|MICAL2_uc001mkb.2_Missense_Mutation_p.V126M|MICAL2_uc001mkc.2_Missense_Mutation_p.V126M	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	126						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		CCGGAACAACGTGCTACACCT	0.567													A	12225908	G	A	12225908	3	1	25	1	0	0	0	0	1	0	0	0	9570	1145	40	1	382	1	MICAL2	11	12225908	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	755574	12225908	122780608	743	23179											
SOX6	55553	broad.mit.edu	37	chr11	16208405	16208407	+	In_Frame_Del	DEL	TCA	TCA	-													acgctgccagttttttctgtTcatcatgcgctgccagtagc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:16208404_16208406TTCA>T	uc001mme.3	-	4	703_705	c.670_672TGAA>A	c.(670-672)gaa>A	p.E224del	SOX6_uc001mmd.3_In_Frame_Del_p.E214del|SOX6_uc001mmf.3_In_Frame_Del_p.E211del|SOX6_uc001mmg.3_In_Frame_Del_p.E211del	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	211	Gln-rich.				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.Q223K(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GTTTTTTCTGTTCATCATGCGCT	0.512													-	16208407	TCA	-	16208405	7	5	25	1	0	1	0	1	0	0	0	0	14955	1783	62	0	1944	0	SOX6	11	16208405	In_Frame_Del	DEL	TCA	TCGA-BR-4370-01A-01D-1158-08	3982497	16208405	118798111	744	23180											
TPH1	7166	broad.mit.edu	37	chr11	18057576	18057577	+	Frame_Shift_Ins	INS	-	-	A													tatgagacttcagcagatgaINSaaaatatcattcaattgttc					rs146455709	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:18057575_18057576G>GA	uc001mnp.2	-	1	257_258	c.231_232C>TC	c.(229-234)tttcatfs	p.F77fs	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	77	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.H78D(2)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TTCAGCAGATGAAAAATATCAT	0.322													A	18057577	-	A	18057576	7	5	25	1	0	1	1	0	0	0	0	0	16398	243	9	0	1139	0	TPH1	11	18057576	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	1849171	18057576	116948940	745	23181											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077199	19077199	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaataagacatcagaatcctTccagatccataatattagga	5	8	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:19077199T>C	uc001mph.2	-	2	839	c.751A>G	c.(751-753)AAG>GAG	p.K251E		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	251	Extracellular (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						TCAGAATCCTTCCAGATCCAT	0.478													C	19077199	T	C	19077199	3	2	25	1	0	0	0	0	1	0	0	0	9767	1792	62	3	245	3	MRGPRX2	11	19077199	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	1019623	19077199	115929317	746	23182											
WT1	7490	broad.mit.edu	37	chr11	32450131	32450131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgagggcgtgtgaccgtaGctgggcgtcccgtcgaaggt	18	10	0	1	rs9332974		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:32450131G>A	uc001mtn.1	-	2	877	c.681C>T	c.(679-681)AGC>AGT	p.S227S	WT1_uc001mtl.1_Silent_p.S15S|WT1_uc001mtm.1_Silent_p.S15S|WT1_uc001mto.1_Silent_p.S227S|WT1_uc001mtp.1_Silent_p.S227S|WT1_uc001mtq.1_Silent_p.S227S|WT1_uc009yjs.1_RNA	NM_024426	NP_077744	P19544	WT1_HUMAN	Wilms tumor 1 isoform D	159					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(231)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TGTGACCGTAGCTGGGCGTCC	0.652			D|Mis|N|F|S	EWSR1	Wilms|desmoplastic small round cell tumor	Wilms			Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				A	32450131	G	A	32450131	2	1	25	1	0	0	0	0	0	0	0	1	17405	962	34	2		2	WT1	11	32450131	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	13372932	32450131	102556385	747	23183											
DEPDC7	91614	broad.mit.edu	37	chr11	33047274	33047274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcataaacactcttcaaaCacaagtggaagtgaaaaaac	5	9	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:33047274C>T	uc001mub.2	+	2	235	c.143C>T	c.(142-144)ACA>ATA	p.T48I	DEPDC7_uc010reg.1_Missense_Mutation_p.T48I|DEPDC7_uc010reh.1_Missense_Mutation_p.T48I|DEPDC7_uc001muc.2_Missense_Mutation_p.T39I	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	novel 58.3 KDA protein isoform 1	48	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|skin(1)	2						ACTCTTCAAACACAAGTGGAA	0.408													T	33047274	C	T	33047274	3	4	25	1	0	0	0	0	1	0	0	0	4444	478	17	4	199	4	DEPDC7	11	33047274	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	597143	33047274	101959242	748	23184											
HIPK3	10114	broad.mit.edu	37	chr11	33308378	33308378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttggataatcatagcagcGcaatgcagattgtcgatgaa	11	6	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:33308378G>A	uc001mul.1	+	2	688	c.418G>A	c.(418-420)GCA>ACA	p.A140T	HIPK3_uc001mum.1_Missense_Mutation_p.A140T|HIPK3_uc009yjv.1_Missense_Mutation_p.A140T	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	140					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						TCATAGCAGCGCAATGCAGAT	0.478													A	33308378	G	A	33308378	3	1	25	1	0	0	0	0	1	0	0	0	7118	1087	38	1	420	1	HIPK3	11	33308378	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	261104	33308378	101698138	749	23185											
PAMR1	25891	broad.mit.edu	37	chr11	35456181	35456181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcagtaacacagtgggcaGccaccaccacagtgcgctca	11	14	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:35456181G>A	uc001mwg.2	-	10	1548	c.1505C>T	c.(1504-1506)GCT>GTT	p.A502V	PAMR1_uc001mwf.2_Missense_Mutation_p.A519V|PAMR1_uc010rew.1_Missense_Mutation_p.A391V|PAMR1_uc010rex.1_Missense_Mutation_p.A462V	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	502	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						ACAGTGGGCAGCCACCACCAC	0.572													A	35456181	G	A	35456181	3	1	25	1	0	0	0	0	1	0	0	0	11413	971	34	2	665	2	PAMR1	11	35456181	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2147803	35456181	99550335	750	23186											
RAG1	5896	broad.mit.edu	37	chr11	36596082	36596082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggagagctcagaagcacCggctgagggagctcaagctg	15	11	2	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:36596082C>T	uc001mwu.3	+	2	1352	c.1228C>T	c.(1228-1230)CGG>TGG	p.R410W	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	410	NBD.		R -> Q (in OS/T(-)B(-)NK(+) SCID; atypical).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				TCAGAAGCACCGGCTGAGGGA	0.517									Familial_Hemophagocytic_Lymphohistiocytosis				T	36596082	C	T	36596082	3	4	25	1	0	0	0	0	1	0	0	0	13003	643	23	1	1230	1	RAG1	11	36596082	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1139901	36596082	98410434	751	23187											
LRRC4C	57689	broad.mit.edu	37	chr11	40137608	40137608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatggaggttcagcagccGtgtgttggtggagatgccat	15	8	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:40137608G>A	uc001mxa.1	-	2	2199	c.235C>T	c.(235-237)CGG>TGG	p.R79W	LRRC4C_uc001mxc.1_Missense_Mutation_p.R75W|LRRC4C_uc001mxd.1_Missense_Mutation_p.R75W|LRRC4C_uc001mxb.1_Missense_Mutation_p.R75W	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	79	LRR 1.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTCAGCAGCCGTGTGTTGGTG	0.493													A	40137608	G	A	40137608	3	1	25	1	0	0	0	0	1	0	0	0	9008	1144	40	1	1691	1	LRRC4C	11	40137608	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3541526	40137608	94868908	752	23188											
SYT13	57586	broad.mit.edu	37	chr11	45273978	45273978	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggttaccctaccttcgcTgaagtcttcagctcgcccca	9	15	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:45273978T>G	uc001myq.2	-	4	966	c.840A>C	c.(838-840)TCA>TCC	p.S280S	SYT13_uc009yku.1_Silent_p.S136S	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	280	Cytoplasmic (Potential).					transport vesicle				ovary(1)	1						CTACCTTCGCTGAAGTCTTCA	0.622											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	45273978	T	G	45273978	2	3	25	1	0	0	0	0	0	0	0	1	15466	1567	55	5		5	SYT13	11	45273978	Silent	SNP	T	TCGA-BR-4370-01A-01D-1158-08	5136370	45273978	89732538	753	23189											
PEX16	9409	broad.mit.edu	37	chr11	45935724	45935724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaagagccagggtttccacGacctctgaccccacaggccc	9	18	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:45935724G>A	uc001nbu.2	-	8	1037	c.725C>T	c.(724-726)TCG>TTG	p.S242L	PEX16_uc001nbt.2_Missense_Mutation_p.S242L	NM_004813	NP_004804	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16 isoform 1	242	Interaction with PEX19.|Cytoplasmic (Potential).				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			ovary(2)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.223)		GGGTTTCCACGACCTCTGACC	0.622													A	45935724	G	A	45935724	3	1	25	1	0	0	0	0	1	0	0	0	11743	1059	37	1	394	1	PEX16	11	45935724	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	661746	45935724	89070792	754	23190											
C11orf49	79096	broad.mit.edu	37	chr11	47183174	47183174	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccactgaagagacagaCgagtcggagacttgaggagt	15	8	0	5	rs75415432	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:47183174C>T	uc001ndp.2	+	9	1087	c.981C>T	c.(979-981)GAC>GAT	p.D327D	C11orf49_uc001nds.2_Intron|C11orf49_uc001ndq.2_3'UTR|C11orf49_uc001ndr.2_Silent_p.D333D|C11orf49_uc010rgx.1_Silent_p.D230D|C11orf49_uc010rgy.1_Silent_p.D318D|C11orf49_uc010rgz.1_Silent_p.D243D	NM_024113	NP_077018	Q9H6J7	CK049_HUMAN	hypothetical protein LOC79096 isoform 3	327											0						AAGAGACAGACGAGTCGGAGA	0.627											OREG0020950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	47183174	C	T	47183174	2	4	25	1	0	0	0	0	0	0	0	1	1645	535	19	1		1	C11orf49	11	47183174	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1247450	47183174	87823342	755	23191											
ACP2	53	broad.mit.edu	37	chr11	47267247	47267247	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttaccctgtcctcagtgaTgggcacagtgtgcacaggaa	11	11	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:47267247T>C	uc001nei.2	-	4	553	c.436A>G	c.(436-438)ATC>GTC	p.I146V	ACP2_uc010rhe.1_Missense_Mutation_p.I118V|ACP2_uc009ylj.2_Missense_Mutation_p.I74V|ACP2_uc010rhf.1_Missense_Mutation_p.I114V|ACP2_uc010rhg.1_Missense_Mutation_p.I146V|ACP2_uc010rhh.1_5'UTR|ACP2_uc010rhi.1_5'UTR|ACP2_uc009ylk.2_Missense_Mutation_p.I146V|ACP2_uc010rhj.1_Missense_Mutation_p.I146V|NR1H3_uc009yll.1_5'Flank|NR1H3_uc010rhk.1_5'Flank	NM_001610	NP_001601	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal isoform 1	146	Lumenal (Potential).					integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			ovary(1)	1						TCCTCAGTGATGGGCACAGTG	0.627													C	47267247	T	C	47267247	3	2	25	1	0	0	0	0	1	0	0	0	163	1464	51	3	900	3	ACP2	11	47267247	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	84073	47267247	87739269	756	23192											
FNBP4	23360	broad.mit.edu	37	chr11	47765532	47765532	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccattttctggagtatctcGtccagttttactagaactcc	6	11	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:47765532G>A	uc009ylv.2	-	8	1582	c.1429C>T	c.(1429-1431)CGA>TGA	p.R477*	FNBP4_uc001ngj.2_Nonsense_Mutation_p.R384*|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	477										ovary(1)	1						GGAGTATCTCGTCCAGTTTTA	0.383													A	47765532	G	A	47765532	4	1	25	1	0	0	0	0	0	1	0	0	5967	1153	40	1	1664	1	FNBP4	11	47765532	Nonsense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	498285	47765532	87240984	757	23193											
OR5W2	390148	broad.mit.edu	37	chr11	55681565	55681565	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagacccacagaagcataggCggaaggccagtgtcatatgt	12	9	1	2	rs148084259		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:55681565C>A	uc010rir.1	-	1	494	c.494G>T	c.(493-495)CGC>CTC	p.R165L		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	165	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GAAGCATAGGCGGAAGGCCAG	0.428													A	55681565	C	A	55681565	3	1	25	1	0	0	0	0	1	0	0	0	11185	768	27	5	440	5	OR5W2	11	55681565	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	7916033	55681565	79324951	758	23194											
GLYAT	10249	broad.mit.edu	37	chr11	58477307	58477308	+	Frame_Shift_Ins	INS	-	-	T													tgttgcagtgtgtaactcatINStttttgcatagcttcattgc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:58477306_58477307A>AT	uc001nnb.3	-	5	978_979	c.823_824T>AT	c.(823-825)atgfs	p.M275fs		NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	275					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TGTGTAACTCATTTTTTGCATA	0.455													T	58477308	-	T	58477307	7	5	25	1	0	1	1	0	0	0	0	0	6479	1493	52	0	71	0	GLYAT	11	58477307	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	2795742	58477307	76529209	759	23195											
OR4D6	219983	broad.mit.edu	37	chr11	59224664	59224664	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgttttttcatctatcacCgtccccaagttcctggtgga	7	12	3	0	rs149619824		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:59224664C>T	uc010rku.1	+	1	231	c.231C>T	c.(229-231)ACC>ACT	p.T77T		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D,	77	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CATCTATCACCGTCCCCAAGT	0.468													T	59224664	C	T	59224664	2	4	25	1	0	0	0	0	0	0	0	1	11058	639	23	1		1	OR4D6	11	59224664	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	747357	59224664	75781852	760	23196											
TMEM132A	54972	broad.mit.edu	37	chr11	60702844	60702844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatctcgctgaccttgagcCggggcactgcccaccccggg	13	17	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:60702844C>T	uc001nqj.2	+	10	2150	c.1957C>T	c.(1957-1959)CGG>TGG	p.R653W	TMEM132A_uc001nqi.2_Missense_Mutation_p.R654W|TMEM132A_uc001nqm.2_5'UTR	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	653	Binds to HSPA5/GRP78 (By similarity).|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						GACCTTGAGCCGGGGCACTGC	0.667													T	60702844	C	T	60702844	3	4	25	1	0	0	0	0	1	0	0	0	16042	643	23	1	1998	1	TMEM132A	11	60702844	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1478180	60702844	74303672	761	23197											
CD5	921	broad.mit.edu	37	chr11	60885784	60885784	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaggaccccagtcaagcgTcaaaagtctgccagcggctg	14	12	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:60885784T>C	uc009ynk.2	+	3	335	c.232T>C	c.(232-234)TCA>CCA	p.S78P		NM_014207	NP_055022	P06127	CD5_HUMAN	CD5 molecule precursor	78	Extracellular (Potential).|SRCR 1.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			ovary(1)	1		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CAGTCAAGCGTCAAAAGTCTG	0.597													C	60885784	T	C	60885784	3	2	25	1	0	0	0	0	1	0	0	0	3021	1667	58	3	242	3	CD5	11	60885784	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	182940	60885784	74120732	762	23198											
DDB1	1642	broad.mit.edu	37	chr11	61094323	61094323	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttattgaattccttttctcGgagagacacctcataggttt	7	9	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:61094323G>A	uc001nrc.3	-	5	818	c.592C>T	c.(592-594)CGA>TGA	p.R198*	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Nonsense_Mutation_p.R198*|DDB1_uc010rlg.1_RNA|DDB1_uc001nrd.2_Nonsense_Mutation_p.R198*|DDB1_uc009ynl.1_Nonsense_Mutation_p.R85*	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	198	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						TCCTTTTCTCGGAGAGACACC	0.517								NER					A	61094323	G	A	61094323	4	1	25	1	0	0	0	0	0	1	0	0	4323	1124	39	1	2922	1	DDB1	11	61094323	Nonsense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	208539	61094323	73912193	763	23199											
DAGLA	747	broad.mit.edu	37	chr11	61504756	61504756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcccacagtatccgaccCtcaagtgctttgcctactcc	7	17	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:61504756C>T	uc001nsa.2	+	14	1585	c.1474C>T	c.(1474-1476)CTC>TTC	p.L492F		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	492	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		GTATCCGACCCTCAAGTGCTT	0.647													T	61504756	C	T	61504756	3	4	25	1	0	0	0	0	1	0	0	0	4226	681	24	4	1524	4	DAGLA	11	61504756	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	410433	61504756	73501760	764	23200											
DAGLA	747	broad.mit.edu	37	chr11	61511578	61511578	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctggaattcgccgagTtcatcgacagcctcttcaac	10	12	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:61511578T>C	uc001nsa.2	+	20	2857	c.2746T>C	c.(2746-2748)TTC>CTC	p.F916L		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	916	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		ATTCGCCGAGTTCATCGACAG	0.667													C	61511578	T	C	61511578	3	2	25	1	0	0	0	0	1	0	0	0	4226	1725	60	3	2820	3	DAGLA	11	61511578	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	6822	61511578	73494938	765	23201											
LRRN4CL	221091	broad.mit.edu	37	chr11	62455946	62455946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaccaagaaggtcacgGccaggagccacagaaggcag	15	10	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:62455946G>A	uc001nun.2	-	2	342	c.35C>T	c.(34-36)GCC>GTC	p.A12V		NM_203422	NP_981967	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like precursor	12						integral to membrane					0						GAAGGTCACGGCCAGGAGCCA	0.597													A	62455946	G	A	62455946	3	1	25	1	0	0	0	0	1	0	0	0	9038	1203	42	2	685	2	LRRN4CL	11	62455946	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	944368	62455946	72550570	766	23202											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62483395	62483395	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcccggttgtcgtagcctcGgcgctgcccgcccactggaa	14	16	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:62483395G>T	uc001nuw.2	-	12	2189	c.1996C>A	c.(1996-1998)CGA>AGA	p.R666R	HNRNPUL2_uc001nuu.1_RNA	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like	666					cell killing	nucleus	ATP binding|nucleic acid binding				0						TCGTAGCCTCGGCGCTGCCCG	0.612													T	62483395	G	T	62483395	2	4	25	1	0	0	0	0	0	0	0	1	7275	1124	39	5		5	HNRNPUL2	11	62483395	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	27449	62483395	72523121	767	23203											
ZBTB3	79842	broad.mit.edu	37	chr11	62519939	62519939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagaagacaggtaaagtgGctcatgcagggatgcgggtg	16	7	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:62519939G>A	uc001nuz.2	-	2	1470	c.1348C>T	c.(1348-1350)CCA>TCA	p.P450S		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3						AGGTAAAGTGGCTCATGCAGG	0.542													A	62519939	G	A	62519939	3	1	25	1	0	0	0	0	1	0	0	0	17531	1203	42	2	380	2	ZBTB3	11	62519939	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	36544	62519939	72486577	768	23204											
ATL3	25923	broad.mit.edu	37	chr11	63420050	63420050	+	Splice_Site	DEL	A	A	-													catcagaacaactgcaacctAaaaaaaaggaaaatacaaac							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:63420049_63420049TA>T	uc001nxk.1	-	4	682	c.406_splice	c.e4-1	p.V136_splice	ATL3_uc010rms.1_Splice_Site_p.V118_splice	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	Homo sapiens atlastin GTPase 3 (ATL3), mRNA.	136					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AACTGCAACCTAAAAAAAAGG	0.373													-	63420050	A	-	63420050	8	5	25	1	0	1	0	1	0	0	1	0	1108	377	13	0		0	ATL3	11	63420050	Splice_Site	DEL	A	TCGA-BR-4370-01A-01D-1158-08	900111	63420050	71586466	769	23205											
MARK2	2011	broad.mit.edu	37	chr11	63672263	63672263	+	Frame_Shift_Del	DEL	C	C	-													cttctcttcccacagcacagCcccccagcgtgtccctgttg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:63672262_63672262GC>G	uc001nxw.3	+	15	2260	c.1681_1681GC>G	c.(1681-1683)gccfs	p.A561fs	MARK2_uc001nxv.4_Frame_Shift_Del_p.A506fs|MARK2_uc001nxx.3_Frame_Shift_Del_p.A507fs|MARK2_uc001nxy.3_Frame_Shift_Del_p.A506fs|MARK2_uc001nxz.4_Frame_Shift_Del_p.A527fs|MARK2_uc009yoy.3_Frame_Shift_Del_p.A481fs	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	561					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCACAGCACAGCCCCCCAGCG	0.647													-	63672263	C	-	63672263	7	5	25	1	0	1	0	1	0	0	0	0	9313	739	26	0	1744	0	MARK2	11	63672263	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	252213	63672263	71334253	770	23206											
MAP4K2	5871	broad.mit.edu	37	chr11	64566893	64566893	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaggcctgcccactcacCggctcattcagtgggtcagt	10	15	5	0	rs150214987		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:64566893C>T	uc001obh.2	-	14	1145	c.1053G>A	c.(1051-1053)CCG>CCA	p.P351P	MAP4K2_uc001obi.2_Silent_p.P351P	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	351					activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2						GCCCACTCACCGGCTCATTCA	0.602													T	64566893	C	T	64566893	2	4	25	1	0	0	0	0	0	0	0	1	9260	666	23	1		1	MAP4K2	11	64566893	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	894630	64566893	70439623	771	23207											
SCYL1	57410	broad.mit.edu	37	chr11	65302744	65302744	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacgaggccaacctcaatgTggagctgatgaagcactttg	12	9	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:65302744T>C	uc001oea.1	+	10	1354	c.1277T>C	c.(1276-1278)GTG>GCG	p.V426A	SCYL1_uc009yqk.2_Missense_Mutation_p.V426A|SCYL1_uc001oeb.1_Missense_Mutation_p.V426A|SCYL1_uc001oec.1_Missense_Mutation_p.V426A|SCYL1_uc001oed.1_Missense_Mutation_p.V283A|SCYL1_uc001oee.1_Missense_Mutation_p.V70A	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A	426	HEAT 2.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			skin(1)	1						AACCTCAATGTGGAGCTGATG	0.592													C	65302744	T	C	65302744	3	2	25	1	0	0	0	0	1	0	0	0	13947	1696	59	3	1315	3	SCYL1	11	65302744	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	735851	65302744	69703772	772	23208											
LTBP3	4054	broad.mit.edu	37	chr11	65314283	65314283	+	Frame_Shift_Del	DEL	C	C	-													cctcaccgcgacaggccccgCccccctggctgcggtagcca							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:65314282_65314282GC>G	uc001oej.3	-	14	2486	c.2217_2217GC>C	c.(2215-2217)ggcfs	p.G739fs	LTBP3_uc001oef.3_5'Flank|LTBP3_uc001oeg.3_5'Flank|LTBP3_uc001oeh.3_Frame_Shift_Del_p.G169fs|LTBP3_uc010roi.2_Frame_Shift_Del_p.G622fs|LTBP3_uc001oei.3_Frame_Shift_Del_p.G739fs|LTBP3_uc010roj.2_Frame_Shift_Del_p.G440fs|LTBP3_uc010rok.1_Frame_Shift_Del_p.G650fs	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	739	Cys-rich.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GACAGGCCCCGCCCCCCTGGC	0.726													-	65314283	C	-	65314283	7	5	25	1	0	1	0	1	0	0	0	0	9075	739	26	0	1751	0	LTBP3	11	65314283	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	11539	65314283	69692233	773	23209											
GAL3ST3	89792	broad.mit.edu	37	chr11	65810683	65810683	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgttgtgtgcgaacatggcGaagtgctcgccagcgcggta	16	9	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:65810683G>A	uc001ogv.2	-	2	751	c.591C>T	c.(589-591)TTC>TTT	p.F197F	GAL3ST3_uc001ogw.2_Silent_p.F197F	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	197	Lumenal (Potential).				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(1)	1						CGAACATGGCGAAGTGCTCGC	0.697													A	65810683	G	A	65810683	2	1	25	1	0	0	0	0	0	0	0	1	6199	1049	37	1		1	GAL3ST3	11	65810683	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	496400	65810683	69195833	774	23210											
SF3B2	10992	broad.mit.edu	37	chr11	65836146	65836146	+	Splice_Site	DEL	A	A	-													tctctttctccctatacagcAaaaaaaacggaaagctcagc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:65836145_65836145CA>C	uc001ogy.1	+	22	2657	c.2617_splice	c.e22-1	p.Q873_splice	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.2_5'Flank	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	873					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCTATACAGCAAAAAAAACG	0.512											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	65836146	A	-	65836146	8	5	25	1	0	1	0	1	0	0	1	0	14151	144	5	0	2704	0	SF3B2	11	65836146	Splice_Site	DEL	A	TCGA-BR-4370-01A-01D-1158-08	25463	65836146	69170370	775	23211											
CD248	57124	broad.mit.edu	37	chr11	66084469	66084469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagtgtgggccctgcggcCgcccaggccagcaacaggcg	15	17	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:66084469C>T	uc001ohm.1	-	1	47	c.30G>A	c.(28-30)GCG>GCA	p.A10A		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	10						integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	GCCCTGCGGCCGCCCAGGCCA	0.761													T	66084469	C	T	66084469	2	4	25	1	0	0	0	0	0	0	0	1	2989	639	23	1		1	CD248	11	66084469	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	248323	66084469	68922047	776	23212											
SPTBN2	6712	broad.mit.edu	37	chr11	66466195	66466195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacttagtatgcaggttgCgggcctcgtcataggacacg	13	11	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:66466195C>T	uc001ojd.2	-	19	4001	c.3929G>A	c.(3928-3930)CGC>CAC	p.R1310H		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1310	Spectrin 10.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						ATGCAGGTTGCGGGCCTCGTC	0.557													T	66466195	C	T	66466195	3	4	25	1	0	0	0	0	1	0	0	0	15119	768	27	1	3319	1	SPTBN2	11	66466195	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	381726	66466195	68540321	777	23213											
SAPS3	55291	broad.mit.edu	37	chr11	68341618	68341618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttacatgggacacctaaCgaggatagctaactgtatcg	11	8	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:68341618C>T	uc001onw.2	+	13	1652	c.1385C>T	c.(1384-1386)ACG>ATG	p.T462M	SAPS3_uc001onv.2_Missense_Mutation_p.T462M|SAPS3_uc001ony.3_Missense_Mutation_p.T462M|SAPS3_uc001onx.2_Missense_Mutation_p.T462M|SAPS3_uc009ysh.2_Missense_Mutation_p.T411M|SAPS3_uc001onu.2_Missense_Mutation_p.T411M|SAPS3_uc010rqc.1_Missense_Mutation_p.T230M|SAPS3_uc010rqd.1_Missense_Mutation_p.T174M|SAPS3_uc001onz.2_5'Flank	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	SAPS domain family, member 3 isoform 6	462					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding				0			LUAD - Lung adenocarcinoma(13;0.102)			GGACACCTAACGAGGATAGCT	0.443													T	68341618	C	T	68341618	3	4	25	1	0	0	0	0	1	0	0	0	13838	536	19	1	1427	1	SAPS3	11	68341618	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1875423	68341618	66664898	778	23214											
CPT1A	1374	broad.mit.edu	37	chr11	68574954	68574954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatccagatcttggtggcaCgactcatcttgccgtgctca	9	14	4	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:68574954C>T	uc001oog.3	-	4	604	c.434G>A	c.(433-435)CGT>CAT	p.R145H	CPT1A_uc001oof.3_Missense_Mutation_p.R145H|CPT1A_uc009ysj.2_Missense_Mutation_p.R145H	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	145	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CTTGGTGGCACGACTCATCTT	0.597													T	68574954	C	T	68574954	3	4	25	1	0	0	0	0	1	0	0	0	3831	536	19	1	1991	1	CPT1A	11	68574954	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	233336	68574954	66431562	779	23215											
NADSYN1	55191	broad.mit.edu	37	chr11	71174487	71174487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcctgcaggcctgtaatGcaccgaaacgtccgctacaa	8	15	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:71174487G>A	uc001oqn.2	+	4	399	c.273G>A	c.(271-273)ATG>ATA	p.M91I	NADSYN1_uc001oqm.2_RNA|NADSYN1_uc001oqo.2_5'UTR	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	91	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGCCTGTAATGCACCGAAACG	0.597													A	71174487	G	A	71174487	3	1	25	1	0	0	0	0	1	0	0	0	10138	1319	46	2	287	2	NADSYN1	11	71174487	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2599533	71174487	63832029	780	23216											
FOLR3	2352	broad.mit.edu	37	chr11	71850856	71850856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgctggggccccgtctcGtgggattattgattcctgat	13	9	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:71850856G>A	uc001ory.1	+	5	895	c.845G>A	c.(844-846)CGT>CAT	p.R282H	FOLR3_uc001orx.1_Missense_Mutation_p.R240H			P41439	FOLR3_HUMAN	SubName: Full=FOLR3 protein; Flags: Fragment;	238					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity				0					Folic Acid(DB00158)	GCCCCGTCTCGTGGGATTATT	0.517													A	71850856	G	A	71850856	3	1	25	1	0	0	0	0	1	0	0	0	5983	1145	40	1	731	1	FOLR3	11	71850856	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	676369	71850856	63155660	781	23217											
CLPB	81570	broad.mit.edu	37	chr11	72083976	72083976	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagttccattaccgccagcGgggagtcctagccatctcct	10	15	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:72083976G>A	uc001osj.2	-	5	779	c.729C>T	c.(727-729)CCC>CCT	p.P243P	CLPB_uc010rqx.1_Silent_p.P198P|CLPB_uc010rqy.1_Intron|CLPB_uc001osk.2_Intron|CLPB_uc009ytg.2_Intron|CLPB_uc010rqz.1_Intron	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B	243					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1						TACCGCCAGCGGGGAGTCCTA	0.517													A	72083976	G	A	72083976	2	1	25	1	0	0	0	0	0	0	0	1	3551	1103	39	1		1	CLPB	11	72083976	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	233120	72083976	62922540	782	23218											
RELT	84957	broad.mit.edu	37	chr11	73105600	73105600	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgtgcagggcctggcctcGctctctggcccctgctgctc	12	18	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:73105600G>A	uc001otv.2	+	9	1032	c.867G>A	c.(865-867)TCG>TCA	p.S289S	RELT_uc001otw.2_Silent_p.S289S|RELT_uc001otx.2_RNA	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor precursor	289	Cytoplasmic (Potential).					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			upper_aerodigestive_tract(1)	1						GCCTGGCCTCGCTCTCTGGCC	0.687													A	73105600	G	A	73105600	2	1	25	1	0	0	0	0	0	0	0	1	13221	1074	38	1		1	RELT	11	73105600	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1021624	73105600	61900916	783	23219											
UVRAG	7405	broad.mit.edu	37	chr11	75852356	75852356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtggcagtagagtgtgacGaacaagttctgggagaattt	14	5	1	3	rs138436357		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:75852356G>A	uc001oxc.2	+	15	2240	c.1999G>A	c.(1999-2001)GAA>AAA	p.E667K	UVRAG_uc010rrw.1_Missense_Mutation_p.E566K|UVRAG_uc001oxd.2_Missense_Mutation_p.E295K|UVRAG_uc010rrx.1_Missense_Mutation_p.E295K|UVRAG_uc010rry.1_Missense_Mutation_p.E223K	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	667					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			skin(4)|lung(2)	6						AGAGTGTGACGAACAAGTTCT	0.512													A	75852356	G	A	75852356	3	1	25	1	0	0	0	0	1	0	0	0	17105	1059	37	1	2057	1	UVRAG	11	75852356	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2746756	75852356	59154160	784	23220											
PAK1	5058	broad.mit.edu	37	chr11	77043869	77043869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagctgacagcttctctgggTtctgaagttctggggtccca	12	10	3	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:77043869T>C	uc001oyh.3	-	14	1990	c.1457A>G	c.(1456-1458)AAC>AGC	p.N486S	PAK1_uc010rso.1_Missense_Mutation_p.N388S|PAK1_uc001oyg.3_Missense_Mutation_p.N486S|PAK1_uc001oyi.1_Missense_Mutation_p.N486S|PAK1_uc010rsn.1_Missense_Mutation_p.N199S	NM_002576	NP_002567	Q13153	PAK1_HUMAN	p21-activated kinase 1 isoform 2	486	Protein kinase.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			skin(2)|stomach(1)|lung(1)	4	all_cancers(14;1.75e-18)					CTTCTCTGGGTTCTGAAGTTC	0.498													C	77043869	T	C	77043869	3	2	25	1	0	0	0	0	1	0	0	0	11399	1725	60	3	241	3	PAK1	11	77043869	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	1191513	77043869	57962647	785	23221											
ODZ4	26011	broad.mit.edu	37	chr11	78380835	78380836	+	Frame_Shift_Ins	INS	-	-	G													agcgagtggtattggcgtagINSggtcctaccttcagctcctt							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:78380834_78380835A>AG	uc001ozl.4	-	31	7018_7019	c.6555_6556T>CT	c.(6553-6558)ccctacfs	p.P2185fs	ODZ4_uc001ozk.4_Frame_Shift_Ins_p.P410fs	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2185					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GTATTGGCGTAGGGTCCTACCT	0.525													G	78380836	-	G	78380835	7	5	25	1	0	1	1	0	0	0	0	0	10837	987	35	0	1766	0	ODZ4	11	78380835	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	1336966	78380835	56625681	786	23222											
ODZ4	26011	broad.mit.edu	37	chr11	78381155	78381155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagttgtagtcaaaacgggCgttgaccatgccttcctcag	10	10	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:78381155C>T	uc001ozl.3	-	32	6698	c.6235G>A	c.(6235-6237)GCC>ACC	p.A2079T	ODZ4_uc001ozk.3_Missense_Mutation_p.A304T|ODZ4_uc009yvb.1_Missense_Mutation_p.A663T	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2079	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						TCAAAACGGGCGTTGACCATG	0.537													T	78381155	C	T	78381155	3	4	25	1	0	0	0	0	1	0	0	0	10837	768	27	1	2086	1	ODZ4	11	78381155	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	320	78381155	56625361	787	23223											
SYTL2	54843	broad.mit.edu	37	chr11	85418474	85418474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagagttcatagatacccGcagtatttcgttatacacag	9	8	1	2	rs142815066		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:85418474G>A	uc010rth.1	-	13	2377	c.2101C>T	c.(2101-2103)CGG>TGG	p.R701W	SYTL2_uc010rtg.1_Missense_Mutation_p.R702W|SYTL2_uc010rti.1_Missense_Mutation_p.R677W|SYTL2_uc010rtj.1_Missense_Mutation_p.R669W|SYTL2_uc001pav.2_Missense_Mutation_p.R143W|SYTL2_uc010rte.1_Missense_Mutation_p.R103W|SYTL2_uc001pax.2_Missense_Mutation_p.R143W|SYTL2_uc001paz.2_Missense_Mutation_p.R22W|SYTL2_uc001pba.2_Missense_Mutation_p.R86W|SYTL2_uc001pay.2_Missense_Mutation_p.R132W|SYTL2_uc001paw.2_Missense_Mutation_p.R103W|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Missense_Mutation_p.R999W|SYTL2_uc001pbb.2_Missense_Mutation_p.R1039W|SYTL2_uc001pbc.2_Missense_Mutation_p.R1023W|SYTL2_uc010rtf.1_Missense_Mutation_p.R519W	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	701	C2 1.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ATAGATACCCGCAGTATTTCG	0.403													A	85418474	G	A	85418474	3	1	25	1	0	0	0	0	1	0	0	0	15480	1086	38	1	727	1	SYTL2	11	85418474	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	7037319	85418474	49588042	788	23224											
MTNR1B	4544	broad.mit.edu	37	chr11	92703053	92703053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtcaccaccgccgtggaCgtcgtgggcaacctcctggt	12	15	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:92703053C>T	uc001pdk.1	+	1	265	c.162C>T	c.(160-162)GAC>GAT	p.D54D		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	54	Helical; Name=1; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CCGCCGTGGACGTCGTGGGCA	0.697													T	92703053	C	T	92703053	2	4	25	1	0	0	0	0	0	0	0	1	9952	535	19	1		1	MTNR1B	11	92703053	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	7284579	92703053	42303463	789	23225											
FAM76B	143684	broad.mit.edu	37	chr11	95516236	95516236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaagtacttacttgtgatGgctactgctgtgacgatggt	11	7	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:95516236G>A	uc001pfn.2	-	5	868	c.556C>T	c.(556-558)CAT>TAT	p.H186Y	FAM76B_uc001pfm.2_RNA	NM_144664	NP_653265	Q5HYJ3	FA76B_HUMAN	hypothetical protein LOC143684	186	His-rich.										0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACTTGTGATGGCTACTGCTG	0.279													A	95516236	G	A	95516236	3	1	25	1	0	0	0	0	1	0	0	0	5625	1348	47	4	487	4	FAM76B	11	95516236	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2813183	95516236	39490280	790	23226											
MMP7	4316	broad.mit.edu	37	chr11	102398591	102398591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgcattatttctatgaCgcgggagtttaacattccag	8	9	2	1	rs145006821	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:102398591C>T	uc001phb.2	-	2	279	c.232G>A	c.(232-234)GTC>ATC	p.V78I	MMP7_uc009yxd.2_Missense_Mutation_p.V78I|MMP7_uc010rus.1_Missense_Mutation_p.V78I	NM_002423	NP_002414	P09237	MMP7_HUMAN	matrix metalloproteinase 7 preproprotein	78					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(1)	1	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		ATTTCTATGACGCGGGAGTTT	0.408													T	102398591	C	T	102398591	3	4	25	1	0	0	0	0	1	0	0	0	9667	536	19	1	591	1	MMP7	11	102398591	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	6882355	102398591	32607925	791	23227											
CWF19L2	143884	broad.mit.edu	37	chr11	107299560	107299560	+	Frame_Shift_Del	DEL	T	T	-													tttgtatcccgtagatgttcTttttttggagggtcatctct							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:107299559_107299559CT>C	uc010rvp.2	-	7	1429	c.1399_1399AG>G	c.(1399-1401)gaafs	p.E467fs	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	467							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CGTAGATGTTCTTTTTTTGGA	0.363													-	107299560	T	-	107299560	7	5	25	1	0	1	0	1	0	0	0	0	4072	1606	56	0	1330	0	CWF19L2	11	107299560	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	4900969	107299560	27706956	792	23228											
EXPH5	23086	broad.mit.edu	37	chr11	108382068	108382068	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgcagggtttcactttgcAactttttgcctctttccttc	6	11	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:108382068A>G	uc001pkk.2	-	6	4277	c.4166T>C	c.(4165-4167)TTG>TCG	p.L1389S	EXPH5_uc010rvy.1_Missense_Mutation_p.L1201S|EXPH5_uc010rvz.1_Missense_Mutation_p.L1233S|EXPH5_uc010rwa.1_Missense_Mutation_p.L1313S	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	1389					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTCACTTTGCAACTTTTTGCC	0.338													G	108382068	A	G	108382068	3	3	25	1	0	0	0	0	1	0	0	0	5322	131	5	3	1807	3	EXPH5	11	108382068	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	1082508	108382068	26624448	793	23229											
ZBTB16	7704	broad.mit.edu	37	chr11	113934884	113934884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccccgactcgaagcagcGtcatcaccagtgctagggag	13	13	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:113934884G>A	uc001pop.2	+	2	1126	c.862G>A	c.(862-864)GTC>ATC	p.V288I	ZBTB16_uc001poo.1_Missense_Mutation_p.V288I|ZBTB16_uc001poq.2_Missense_Mutation_p.V288I	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	288					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TCGAAGCAGCGTCATCACCAG	0.657													A	113934884	G	A	113934884	3	1	25	1	0	0	0	0	1	0	0	0	17523	1145	40	1	864	1	ZBTB16	11	113934884	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	5552816	113934884	21071632	794	23230											
BUD13	84811	broad.mit.edu	37	chr11	116631626	116631626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctggactttgtttatgcCgtggagaagaaaggtctgaa	13	7	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:116631626C>T	uc001ppn.2	-	5	1113	c.1079G>A	c.(1078-1080)CGG>CAG	p.R360Q	BUD13_uc001ppo.2_Missense_Mutation_p.R226Q|BUD13_uc009yzc.2_Missense_Mutation_p.R360Q	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	BUD13 homolog isoform 1	360										large_intestine(1)|pancreas(1)	2	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TTGTTTATGCCGTGGAGAAGA	0.483													T	116631626	C	T	116631626	3	4	25	1	0	0	0	0	1	0	0	0	1573	652	23	1	804	1	BUD13	11	116631626	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2696742	116631626	18374890	795	23231											
APOA5	116519	broad.mit.edu	37	chr11	116661768	116661768	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgaggtcttgctcaagGctgtctttcagggtcctgga	13	8	4	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:116661768G>A	uc001ppr.2	-	3	185	c.177C>T	c.(175-177)AGC>AGT	p.S59S	APOA5_uc009yze.2_Silent_p.S59S|APOA5_uc009yzf.2_Silent_p.S59S|APOA5_uc009yzg.2_Silent_p.S85S	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN	apolipoprotein AV precursor	59	Potential.				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding				0	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CTTGCTCAAGGCTGTCTTTCA	0.572													A	116661768	G	A	116661768	2	1	25	1	0	0	0	0	0	0	0	1	784	1194	42	2		2	APOA5	11	116661768	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	30142	116661768	18344748	796	23232											
SIDT2	51092	broad.mit.edu	37	chr11	117064605	117064605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatcaagctcatccccctgCtctgcatcgtttgcacctcc	7	17	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:117064605C>T	uc001pqh.1	+	24	2289	c.2248C>T	c.(2248-2250)CTC>TTC	p.L750F	SIDT2_uc010rxe.1_Missense_Mutation_p.L750F|SIDT2_uc001pqg.2_Missense_Mutation_p.L771F|SIDT2_uc001pqi.1_Missense_Mutation_p.L747F|SIDT2_uc001pqj.1_Missense_Mutation_p.L62F	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	750	Helical; (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CATCCCCCTGCTCTGCATCGT	0.642													T	117064605	C	T	117064605	3	4	25	1	0	0	0	0	1	0	0	0	14303	797	28	2	2342	2	SIDT2	11	117064605	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	402837	117064605	17941911	797	23233											
PCSK7	9159	broad.mit.edu	37	chr11	117077045	117077045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagtaaacagtccagaagaCggtgaaacagcctaccagca	10	10	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:117077045C>T	uc001pqr.2	-	17	2227	c.2026G>A	c.(2026-2028)GTC>ATC	p.V676I	uc001pqq.1_RNA	NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	676	Helical; (Potential).				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GTCCAGAAGACGGTGAAACAG	0.547			T	IGH@	MLCLS								T	117077045	C	T	117077045	3	4	25	1	0	0	0	0	1	0	0	0	11605	536	19	1	335	1	PCSK7	11	117077045	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	12440	117077045	17929471	798	23234											
ARCN1	372	broad.mit.edu	37	chr11	118454580	118454580	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagcaaaggaattacaacaGgcccgaagagatgcagagag	12	7	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:118454580G>T	uc001ptq.2	+	4	665	c.504G>T	c.(502-504)CAG>CAT	p.Q168H	ARCN1_uc009zah.2_Intron|ARCN1_uc010ryg.1_Missense_Mutation_p.Q80H|ARCN1_uc009zag.2_Missense_Mutation_p.Q209H	NM_001655	NP_001646	P48444	COPD_HUMAN	archain isoform 1	168					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AATTACAACAGGCCCGAAGAG	0.443													T	118454580	G	T	118454580	3	4	25	1	0	0	0	0	1	0	0	0	842	991	35	5	518	5	ARCN1	11	118454580	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1377535	118454580	16551936	799	23235											
DDX6	1656	broad.mit.edu	37	chr11	118629614	118629615	+	Splice_Site	INS	-	-	G													ttctgcaaatgggaattctgINSgggggggagcgggaaaaaga							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:118629613_118629614T>TG	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL								G	118629615	-	G	118629614	8	5	25	1	0	1	1	0	0	0	1	0	4377	1363	47	0		0	DDX6	11	118629614	Splice_Site	INS	-	TCGA-BR-4370-01A-01D-1158-08	175034	118629614	16376902	800	23236											
BCL9L	283149	broad.mit.edu	37	chr11	118770652	118770653	+	Frame_Shift_Ins	INS	-	-	G													ggagccctgcggtggtggtgINSgggggggcagcaggggccgg					rs139987150		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:118770651_118770652T>TG	uc001pug.3	-	6	4345_4346	c.3380_3381A>CA	c.(3379-3381)ccafs	p.P1127fs	BCL9L_uc009zal.3_Frame_Shift_Ins_p.P1122fs	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1127	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCGGTGGTGGTGGGGGGGGCAG	0.703													G	118770653	-	G	118770652	7	5	25	1	0	1	1	0	0	0	0	0	1382	1348	47	0	1127	0	BCL9L	11	118770652	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	141038	118770652	16235864	801	23237											
TMEM136	219902	broad.mit.edu	37	chr11	120201049	120201049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgaaatggtctcccccaCgcctaagtggtttgtgaagg	12	10	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:120201049C>T	uc001pxh.1	+	3	626	c.563C>T	c.(562-564)ACG>ATG	p.T188M	TMEM136_uc001pxg.2_Intron|TMEM136_uc010rzm.1_Intron|TMEM136_uc001pxj.2_Missense_Mutation_p.T210M|TMEM136_uc009zas.1_Missense_Mutation_p.T74M|TMEM136_uc001pxi.1_Missense_Mutation_p.T74M	NM_174926	NP_777586	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	188	TLC.					integral to membrane				ovary(1)	1		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		GTCTCCCCCACGCCTAAGTGG	0.507													T	120201049	C	T	120201049	3	4	25	1	0	0	0	0	1	0	0	0	16049	551	19	1		1	TMEM136	11	120201049	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1430397	120201049	14805467	802	23238											
ARHGEF12	23365	broad.mit.edu	37	chr11	120308057	120308057	+	Frame_Shift_Del	DEL	A	A	-													agagagaatttatctagaggAaaacccagagaaaagtgaaa							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:120308056_120308056GA>G	uc001pxl.2	+	11	1299	c.964_964GA>G	c.(964-966)gaafs	p.E322fs	ARHGEF12_uc009zat.3_Frame_Shift_Del_p.E303fs|ARHGEF12_uc010rzn.1_Frame_Shift_Del_p.E219fs|ARHGEF12_uc009zau.1_Frame_Shift_Del_p.E219fs|ARHGEF12_uc021qrm.1_Frame_Shift_Del_p.E303fs	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	322					G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TTATCTAGAGGAAAACCCAGA	0.378			T	MLL	AML								-	120308057	A	-	120308057	7	5	25	1	0	1	0	1	0	0	0	0	897	246	9	0	1011	0	ARHGEF12	11	120308057	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	107008	120308057	14698459	803	23239											
SORL1	6653	broad.mit.edu	37	chr11	121323240	121323240	+	Frame_Shift_Del	DEL	G	G	-													gtgggcgcgcggggatgccaGgggggcgagccgcgcggacg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:121323240delG	uc001pxx.2	+	1	280	c.200delG	c.(199-201)AGGfs	p.R67fs	uc001pxw.1_Intron	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	67					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGGGATGCCAGGGGGGCGAGC	0.731													-	121323240	G	-	121323240	7	5	25	1	0	1	0	1	0	0	0	0	14934	1000	35	0	202	0	SORL1	11	121323240	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	1015183	121323240	13683276	804	23240											
SCN3B	55800	broad.mit.edu	37	chr11	123508896	123508896	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcatctctggacttacgcGttttcttgggctgcctcttc	10	12	3	0	rs34964168	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:123508896G>A	uc001pza.1	-	5	989	c.582C>T	c.(580-582)AAC>AAT	p.N194N	SCN3B_uc001pzb.1_Silent_p.N194N	NM_001040151	NP_001035241	Q9NY72	SCN3B_HUMAN	voltage-gated sodium channel beta-3 subunit	194	Cytoplasmic (Potential).				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		GGACTTACGCGTTTTCTTGGG	0.294													A	123508896	G	A	123508896	2	1	25	1	0	0	0	0	0	0	0	1	13919	1136	40	1		1	SCN3B	11	123508896	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2185656	123508896	11497620	805	23241											
OR10G8	219869	broad.mit.edu	37	chr11	123900389	123900389	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccttccccatgccccagcGctggacgcccccctctttgg	10	20	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:123900389G>A	uc001pzp.1	+	1	60	c.60G>A	c.(58-60)GCG>GCA	p.A20A		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ATGCCCCAGCGCTGGACGCCC	0.572													A	123900389	G	A	123900389	2	1	25	1	0	0	0	0	0	0	0	1	10903	1074	38	1		1	OR10G8	11	123900389	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	391493	123900389	11106127	806	23242											
C11orf61	79684	broad.mit.edu	37	chr11	124637344	124637344	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagcaatagataattcgggTgggttctatttccacctgta	10	7	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:124637344T>C	uc001qba.1	-	4	1431	c.1408A>G	c.(1408-1410)ACC>GCC	p.T470A	C11orf61_uc001qaz.1_Missense_Mutation_p.T418A|C11orf61_uc010sap.1_Missense_Mutation_p.T190A|C11orf61_uc001qay.1_Missense_Mutation_p.T240A	NM_024631	NP_078907	Q6P1R3	CK061_HUMAN	hypothetical protein LOC79684	470											0	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0079)		ATAATTCGGGTGGGTTCTATT	0.478													C	124637344	T	C	124637344	3	2	25	1	0	0	0	0	1	0	0	0	1653	1696	59	3	275	3	C11orf61	11	124637344	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	736955	124637344	10369172	807	23243											
CDON	50937	broad.mit.edu	37	chr11	125867186	125867186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaattgctggtcctcatccGtttatattcgactttgaagg	8	10	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:125867186G>A	uc009zbw.2	-	12	2406	c.2278C>T	c.(2278-2280)CGG>TGG	p.R760W	CDON_uc001qdb.3_Missense_Mutation_p.R137W|CDON_uc001qdc.3_Missense_Mutation_p.R760W	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	760	Fibronectin type-III 2.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GTCCTCATCCGTTTATATTCG	0.473													A	125867186	G	A	125867186	3	1	25	1	0	0	0	0	1	0	0	0	3170	1144	40	1	1552	1	CDON	11	125867186	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1229842	125867186	9139330	808	23244											
TIRAP	114609	broad.mit.edu	37	chr11	126162425	126162425	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaagaggcccaactccccaGaaagcacctccagcgatgct	9	15	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:126162425G>A	uc001qdm.1	+	5	573	c.121G>A	c.(121-123)GAA>AAA	p.E41K	TIRAP_uc001qdl.1_Missense_Mutation_p.E41K|TIRAP_uc009zcb.1_Missense_Mutation_p.E41K|TIRAP_uc001qdn.1_Missense_Mutation_p.E41K|TIRAP_uc001qdo.1_Missense_Mutation_p.E41K	NM_001039661	NP_001034750	P58753	TIRAP_HUMAN	Toll-interleukin 1 receptor domain-containing	41					3'-UTR-mediated mRNA stabilization|cellular response to bacterial lipopeptide|cellular response to lipoteichoic acid|defense response to Gram-positive bacterium|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|myeloid cell differentiation|negative regulation of growth of symbiont in host|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 1 production|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-12 production|positive regulation of interleukin-15 production|positive regulation of interleukin-6 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein homodimerization activity|positive regulation of toll-like receptor 2 signaling pathway|positive regulation of toll-like receptor 3 signaling pathway|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|regulation of interferon-beta production|response to lipopolysaccharide|TIRAP-dependent toll-like receptor 4 signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway	endocytic vesicle|intrinsic to membrane|ruffle membrane	phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|protein heterodimerization activity|protein homodimerization activity|protein kinase C delta binding|Toll-like receptor 2 binding|Toll-like receptor 4 binding|transmembrane receptor activity			ovary(1)	1	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		CAACTCCCCAGAAAGCACCTC	0.602													A	126162425	G	A	126162425	3	1	25	1	0	0	0	0	1	0	0	0	15924	943	33	4	127	4	TIRAP	11	126162425	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	295239	126162425	8844091	809	23245											
FLI1	2313	broad.mit.edu	37	chr11	128638142	128638142	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccaacatgaccaccaaCgagaggagagtcatcgtccc	8	16	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:128638142C>T	uc010sbu.1	+	3	701	c.360C>T	c.(358-360)AAC>AAT	p.N120N	FLI1_uc010sbt.1_Intron|FLI1_uc010sbv.1_Silent_p.N87N|FLI1_uc009zci.2_Silent_p.N54N|FLI1_uc001qen.2_Silent_p.N87N	NM_002017	NP_002008	Q01543	FLI1_HUMAN	Friend leukemia virus integration 1	120	PNT.				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2266)	bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TGACCACCAACGAGAGGAGAG	0.582			T	EWSR1	Ewing sarcoma								T	128638142	C	T	128638142	2	4	25	1	0	0	0	0	0	0	0	1	5924	535	19	1		1	FLI1	11	128638142	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2475717	128638142	6368374	810	23246											
NTM	50863	broad.mit.edu	37	chr11	132177681	132177681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctccaatgacgtggccGcgcccgtggtacggagagta	15	12	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:132177681G>A	uc001qgp.2	+	4	1289	c.625G>A	c.(625-627)GCG>ACG	p.A209T	NTM_uc001qgm.2_Missense_Mutation_p.A209T|NTM_uc010sch.1_Missense_Mutation_p.A200T|NTM_uc010sci.1_Missense_Mutation_p.A209T|NTM_uc010scj.1_Missense_Mutation_p.A168T|NTM_uc001qgo.2_Missense_Mutation_p.A209T|NTM_uc001qgq.2_Missense_Mutation_p.A209T|NTM_uc001qgr.2_5'UTR	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	209	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						TGACGTGGCCGCGCCCGTGGT	0.577													A	132177681	G	A	132177681	3	1	25	1	0	0	0	0	1	0	0	0	10699	1087	38	1	725	1	NTM	11	132177681	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3539539	132177681	2828835	811	23247											
JAM3	83700	broad.mit.edu	37	chr11	134015869	134015869	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgctgttcacaaggacgactCtgggcagtactactgcattg	11	10	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:134015869C>T	uc001qhb.1	+	6	800	c.776C>T	c.(775-777)TCT>TTT	p.S259F	JAM3_uc009zcz.1_Missense_Mutation_p.S208F	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3 precursor	214	Extracellular (Potential).|Ig-like C2-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		AAGGACGACTCTGGGCAGTAC	0.502													T	134015869	C	T	134015869	3	4	25	1	0	0	0	0	1	0	0	0	7944	913	32	4	798	4	JAM3	11	134015869	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1838188	134015869	990647	812	23248											
NCAPD3	23310	broad.mit.edu	37	chr11	134038926	134038926	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttcctcttcagtaacaggTgagccaggcaaaactccccg	10	13	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:134038926T>C	uc001qhd.1	-	25	3731	c.3125A>G	c.(3124-3126)CAC>CGC	p.H1042R	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_5'UTR	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1042					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CAGTAACAGGTGAGCCAGGCA	0.423													C	134038926	T	C	134038926	3	2	25	1	0	0	0	0	1	0	0	0	10206	1696	59	3	1415	3	NCAPD3	11	134038926	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	23057	134038926	967590	813	23249											
WNK1	65125	broad.mit.edu	37	chr12	1017928	1017928	+	Frame_Shift_Del	DEL	C	C	-													ttgcagaaatccatcagcaaCcccccaggctccaacctgcg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:1017927_1017927AC>A	uc021qss.1	+	27	8541	c.7898_7898AC>A	c.(7897-7899)aacfs	p.N2633fs	WNK1_uc001qio.4_Frame_Shift_Del_p.N2373fs|WNK1_uc021qst.1_Frame_Shift_Del_p.N2625fs|WNK1_uc001qip.4_Frame_Shift_Del_p.N2125fs|WNK1_uc001qir.4_Frame_Shift_Del_p.N1546fs	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	2373					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCCATCAGCAACCCCCCAGGC	0.562													-	1017928	C	-	1017928	7	5	25	1	0	1	0	1	0	0	0	0	17374	506	18	0	8731	0	WNK1	12	1017928	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08		1017928	132833967	814	23250											
CACNA1C	775	broad.mit.edu	37	chr12	2800256	2800256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtgaactgcagggacgCggggcaggaccgagccgggg	19	10	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:2800256C>T	uc009zdu.1	+	50	6870	c.6557C>T	c.(6556-6558)GCG>GTG	p.A2186V	CACNA1C_uc009zdv.1_Missense_Mutation_p.A2100V|CACNA1C_uc001qkb.2_Missense_Mutation_p.A2103V|CACNA1C_uc001qkc.2_Missense_Mutation_p.A2122V|CACNA1C_uc001qke.2_Missense_Mutation_p.A2092V|CACNA1C_uc001qkf.2_Missense_Mutation_p.A2111V|CACNA1C_uc001qjz.2_Missense_Mutation_p.A2103V|CACNA1C_uc001qkd.2_Missense_Mutation_p.A2122V|CACNA1C_uc001qkg.2_Missense_Mutation_p.A2109V|CACNA1C_uc009zdw.1_Missense_Mutation_p.A2144V|CACNA1C_uc001qkh.2_Missense_Mutation_p.A2111V|CACNA1C_uc001qkl.2_Missense_Mutation_p.A2151V|CACNA1C_uc001qkn.2_Missense_Mutation_p.A2103V|CACNA1C_uc001qko.2_Missense_Mutation_p.A2123V|CACNA1C_uc001qkp.2_Missense_Mutation_p.A2103V|CACNA1C_uc001qkr.2_Missense_Mutation_p.A2120V|CACNA1C_uc001qku.2_Missense_Mutation_p.A2138V|CACNA1C_uc001qkq.2_Missense_Mutation_p.A2131V|CACNA1C_uc001qks.2_Missense_Mutation_p.A2103V|CACNA1C_uc001qkt.2_Missense_Mutation_p.A2122V|CACNA1C_uc001qki.1_Missense_Mutation_p.A1910V|CACNA1C_uc001qkj.1_Missense_Mutation_p.A1874V|CACNA1C_uc001qkk.1_Missense_Mutation_p.A1839V|CACNA1C_uc001qkm.1_Missense_Mutation_p.A1899V|CACNA1C_uc010sea.1_Missense_Mutation_p.A794V|uc001qkx.1_RNA|CACNA1C_uc001qky.1_Missense_Mutation_p.A421V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	2186	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGCAGGGACGCGGGGCAGGAC	0.687													T	2800256	C	T	2800256	3	4	25	1	0	0	0	0	1	0	0	0	2540	768	27	1	7203	1	CACNA1C	12	2800256	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1782328	2800256	131051639	815	23251											
ITFG2	55846	broad.mit.edu	37	chr12	2929276	2929276	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgggtgtcgtgagctggTggtgggctacacagaccgtg	18	7	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:2929276T>C	uc001qlb.1	+	5	495	c.431T>C	c.(430-432)GTG>GCG	p.V144A	ITFG2_uc010seb.1_5'UTR|ITFG2_uc010sec.1_RNA	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	144	FG-GAP 2; atypical.										0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CGTGAGCTGGTGGTGGGCTAC	0.597													C	2929276	T	C	2929276	3	2	25	1	0	0	0	0	1	0	0	0	7870	1696	59	3	449	3	ITFG2	12	2929276	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	129020	2929276	130922619	816	23252											
PRMT8	56341	broad.mit.edu	37	chr12	3678673	3678673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttatgtttccagaccggGcagctttgtacgtggtagcg	14	9	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:3678673G>A	uc001qmf.2	+	6	1022	c.655G>A	c.(655-657)GCA>ACA	p.A219T	PRMT8_uc009zed.2_Missense_Mutation_p.A210T|PRMT8_uc009zee.1_RNA|PRMT8_uc001qmg.2_Missense_Mutation_p.A33T	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	HMT1 hnRNP methyltransferase-like 4	219					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			ovary(3)|central_nervous_system(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TCCAGACCGGGCAGCTTTGTA	0.463													A	3678673	G	A	3678673	3	1	25	1	0	0	0	0	1	0	0	0	12542	1203	42	2	677	2	PRMT8	12	3678673	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	749397	3678673	130173222	817	23253											
PARP11	57097	broad.mit.edu	37	chr12	3921503	3921503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatgttctaaacagatgcCgctgttgcaagctgacacca	8	10	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:3921503C>T	uc001qmk.1	-	7	837	c.782G>A	c.(781-783)CGG>CAG	p.R261Q	PARP11_uc001qml.2_Missense_Mutation_p.R268Q|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Missense_Mutation_p.R187Q|PARP11_uc001qmn.2_Missense_Mutation_p.R187Q	NM_020367	NP_065100	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	261	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			ovary(1)|central_nervous_system(1)	2			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			AAACAGATGCCGCTGTTGCAA	0.408													T	3921503	C	T	3921503	3	4	25	1	0	0	0	0	1	0	0	0	11456	652	23	1	217	1	PARP11	12	3921503	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	242830	3921503	129930392	818	23254											
KCNA5	3741	broad.mit.edu	37	chr12	5153999	5153999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggagaagcccctgccccGcaacgagttccagcgccagg	13	15	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:5153999G>A	uc001qni.2	+	1	915	c.686G>A	c.(685-687)CGC>CAC	p.R229H		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	229						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						CCCCTGCCCCGCAACGAGTTC	0.607													A	5153999	G	A	5153999	3	1	25	1	0	0	0	0	1	0	0	0	8006	1087	38	1	688	1	KCNA5	12	5153999	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1232496	5153999	128697896	819	23255											
KCNA5	3741	broad.mit.edu	37	chr12	5154457	5154457	+	Frame_Shift_Del	DEL	G	G	-													aactggcagagcagcagccaGggggtggaggaggcggccag							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:5154456_5154456AG>A	uc001qni.3	+	0	1372	c.1143_1143AG>A	c.(1141-1143)ccafs	p.P381fs		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	381						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						AGCAGCAGCCAGGGGGTGGAG	0.622													-	5154457	G	-	5154457	7	5	25	1	0	1	0	1	0	0	0	0	8006	1000	35	0	1146	0	KCNA5	12	5154457	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	458	5154457	128697438	820	23256											
ZNF384	171017	broad.mit.edu	37	chr12	6776956	6776956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccttatgatgctccgccGtcttatacggggtcaggtca	11	11	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:6776956G>A	uc010sfh.1	-	11	1866	c.1658C>T	c.(1657-1659)ACG>ATG	p.T553M	ZNF384_uc001qpz.2_Missense_Mutation_p.T492M|ZNF384_uc001qqa.2_Missense_Mutation_p.T492M|ZNF384_uc001qqb.2_Missense_Mutation_p.T476M|ZNF384_uc001qqc.2_Missense_Mutation_p.T492M|ZNF384_uc001qqd.2_Missense_Mutation_p.T437M|ZNF384_uc001qqe.2_Missense_Mutation_p.T476M	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	nuclear matrix transcription factor 4 isoform d	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8						ATGCTCCGCCGTCTTATACGG	0.622			T	EWSR1|TAF15 	ALL								A	6776956	G	A	6776956	3	1	25	1	0	0	0	0	1	0	0	0	17872	1145	40	1	79	1	ZNF384	12	6776956	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1622499	6776956	127074939	821	23257											
GPR162	27239	broad.mit.edu	37	chr12	6933721	6933721	+	Frame_Shift_Del	DEL	G	G	-													gctcggcaggcccggagagtGgggggtggtggggggaccaa							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:6933720_6933720TG>T	uc001qqw.1	+	1	1191	c.656_656TG>T	c.(655-657)gtgfs	p.V219fs	GPR162_uc010sfn.1_Frame_Shift_Del_p.V219fs|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'UTR	NM_019858	NP_062832	Q16538	GP162_HUMAN	Homo sapiens G protein-coupled receptor 162 (GPR162), transcript variant A-2, mRNA.	219						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GCCCGGAGAGTGGGGGGTGGT	0.657													-	6933721	G	-	6933721	7	5	25	1	0	1	0	1	0	0	0	0	6666	1335	47	0	678	0	GPR162	12	6933721	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	156765	6933721	126918174	822	23258											
ACSM4	341392	broad.mit.edu	37	chr12	7463150	7463150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagggatcatcttcatgcCgggaacaatccagctgacag	10	13	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:7463150C>T	uc001qsx.1	+	3	428	c.428C>T	c.(427-429)CCG>CTG	p.P143L		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	143					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding				0						ATCTTCATGCCGGGAACAATC	0.577													T	7463150	C	T	7463150	3	4	25	1	0	0	0	0	1	0	0	0	186	652	23	1	438	1	ACSM4	12	7463150	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	529429	7463150	126388745	823	23259											
GDF3	9573	broad.mit.edu	37	chr12	7842751	7842751	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccaacccaggtcccggAagttaatgaatagctggtga	12	9	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:7842751A>G	uc001qte.2	-	2	854	c.818T>C	c.(817-819)TTC>TCC	p.F273S		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	growth differentiation factor 3 precursor	273					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						CAGGTCCCGGAAGTTAATGAA	0.532													G	7842751	A	G	7842751	3	3	25	1	0	0	0	0	1	0	0	0	6315	246	9	3	280	3	GDF3	12	7842751	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	379601	7842751	126009144	824	23260											
CLEC2D	29121	broad.mit.edu	37	chr12	9847427	9847427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtagtgccaggcactacaCagagaggaagtggatttgtt	13	7	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:9847427C>T	uc001qwg.1	+	5	555	c.533C>T	c.(532-534)ACA>ATA	p.T178I	CLEC2D_uc001qwf.1_3'UTR|CLEC2D_uc009zgs.1_RNA|CLEC2D_uc001qwh.1_RNA|CLEC2D_uc009zgt.1_RNA|CLEC2D_uc009zgu.1_3'UTR	NM_013269	NP_037401	Q9UHP7	CLC2D_HUMAN	osteoclast inhibitory lectin isoform 1	178	Extracellular (Potential).|C-type lectin.				cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity				0						AGGCACTACACAGAGAGGAAG	0.413													T	9847427	C	T	9847427	3	4	25	1	0	0	0	0	1	0	0	0	3508	478	17	4	637	4	CLEC2D	12	9847427	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2004676	9847427	124004468	825	23261											
PTPRO	5800	broad.mit.edu	37	chr12	15637007	15637007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcatctgtgtatgttgtgAagataactggtgaatccaaa	10	6	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:15637007A>G	uc001rcv.1	+	2	349	c.175A>G	c.(175-177)AAG>GAG	p.K59E	PTPRO_uc001rcw.1_Missense_Mutation_p.K59E|PTPRO_uc001rcu.1_Missense_Mutation_p.K59E	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	59	Fibronectin type-III 1.|Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				GTATGTTGTGAAGATAACTGG	0.388													G	15637007	A	G	15637007	3	3	25	1	0	0	0	0	1	0	0	0	12809	247	9	3	181	3	PTPRO	12	15637007	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	5789580	15637007	118214888	826	23262											
PLCZ1	89869	broad.mit.edu	37	chr12	18841025	18841025	+	Splice_Site	DEL	T	T	-													ggtatatcaggagctcaccaTtttttttaattacacgagtc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:18841024_18841024AT>A	uc021qvx.1	-	13	1782	c.1591_splice	c.e13+1	p.A531_splice	PLCZ1_uc001rdv.4_Splice_Site_p.A427_splice|PLCZ1_uc001rdw.4_Splice_Site_p.A272_splice|PLCZ1_uc001rdu.1_Splice_Site_p.A313_splice|PLCZ1_uc009zil.1_Splice_Site	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	531	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GGAGCTCACCATTTTTTTTAA	0.294													-	18841025	T	-	18841025	8	5	25	1	0	1	0	1	0	0	1	0	12044	1493	52	0	249	0	PLCZ1	12	18841025	Splice_Site	DEL	T	TCGA-BR-4370-01A-01D-1158-08	3204018	18841025	115010870	827	23263											
PLCZ1	89869	broad.mit.edu	37	chr12	18858252	18858253	+	Splice_Site	INS	-	-	A													actgggtagtcagatgtctaINSaaaaagtaaccattactatg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:18858251_18858252T>TA	uc021qvx.1	-	7	906	c.715_splice	c.e7-1	p.T239_splice	PLCZ1_uc001rdv.4_Splice_Site_p.T135_splice|PLCZ1_uc001rdw.4_Splice_Site|PLCZ1_uc001rdu.1_Intron|PLCZ1_uc009zil.1_Splice_Site	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	239	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GTCAGATGTCTAAAAAAGTAAC	0.347													A	18858253	-	A	18858252	8	5	25	1	0	1	1	0	0	0	1	0	12044	377	13	0		0	PLCZ1	12	18858252	Splice_Site	INS	-	TCGA-BR-4370-01A-01D-1158-08	17227	18858252	114993643	828	23264											
PLEKHA5	54477	broad.mit.edu	37	chr12	19410381	19410382	+	Frame_Shift_Ins	INS	-	-	A													tttagacttcacgagcttcaINSaaaaaagttcataattttgg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:19410380_19410381C>CA	uc001reb.3	+	5	554_555	c.446_447C>CA	c.(445-447)tcafs	p.S149fs	PLEKHA5_uc010sie.2_Frame_Shift_Ins_p.S149fs|PLEKHA5_uc001rea.3_Frame_Shift_Ins_p.S149fs|PLEKHA5_uc009zin.3_5'UTR|PLEKHA5_uc010sig.2_Frame_Shift_Ins_p.S41fs|PLEKHA5_uc010sih.1_Frame_Shift_Ins_p.S41fs|PLEKHA5_uc021qvy.1_Frame_Shift_Ins_p.S41fs	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	149							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TCACGAGCTTCAAAAAAAGTTC	0.322													A	19410382	-	A	19410381	7	5	25	1	0	1	1	0	0	0	0	0	12059	117	5	0	469	0	PLEKHA5	12	19410381	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	552129	19410381	114441514	829	23265											
AEBP2	121536	broad.mit.edu	37	chr12	19615474	19615474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actataatggatgtagacagCacaatttccagtgggcgttc	10	8	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:19615474C>T	uc001ref.2	+	2	728	c.702C>T	c.(700-702)AGC>AGT	p.S234S	AEBP2_uc001ree.2_Silent_p.S234S|AEBP2_uc001reg.1_Silent_p.S5S	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN	AE binding protein 2 isoform b	234	Ser-rich.|Interaction with RBBP4.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					ATGTAGACAGCACAATTTCCA	0.353													T	19615474	C	T	19615474	2	4	25	1	0	0	0	0	0	0	0	1	350	709	25	2		2	AEBP2	12	19615474	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	205093	19615474	114236421	830	23266											
LST-3TM12	338821	broad.mit.edu	37	chr12	21201653	21201653	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttatttctaggagtcctCgccctacctgctgttgcaat	7	13	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:21201653C>T	uc010sin.1	+	8	1002	c.1002C>T	c.(1000-1002)CTC>CTT	p.L334L	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.L381L	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	334						membrane	transporter activity				0						TAGGAGTCCTCGCCCTACCTG	0.244													T	21201653	C	T	21201653	2	4	25	1	0	0	0	0	0	0	0	1	9066	871	31	1		1	LST-3TM12	12	21201653	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1586179	21201653	112650242	831	23267											
DBX2	440097	broad.mit.edu	37	chr12	45444539	45444539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgccgggtcgtggggcgCgggcggctgcagcctgggcg	23	12	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:45444539C>T	uc001rok.1	-	1	344	c.172G>A	c.(172-174)GCG>ACG	p.A58T		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	58						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		TCGTGGGGCGCGGGCGGCTGC	0.731													T	45444539	C	T	45444539	3	4	25	1	0	0	0	0	1	0	0	0	4260	768	27	1	863	1	DBX2	12	45444539	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	24242886	45444539	88407356	832	23268											
ARID2	196528	broad.mit.edu	37	chr12	46211654	46211654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactttactacttgctaatgCcggggtgtttgacgacagta	10	9	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:46211654C>T	uc001ros.1	+	5	620	c.620C>T	c.(619-621)GCC>GTC	p.A207V	ARID2_uc001ror.2_Missense_Mutation_p.A207V	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	207					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CTTGCTAATGCCGGGGTGTTT	0.323													T	46211654	C	T	46211654	3	4	25	1	0	0	0	0	1	0	0	0	915	739	26	2	638	2	ARID2	12	46211654	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	767115	46211654	87640241	833	23269											
ARID2	196528	broad.mit.edu	37	chr12	46230382	46230382	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcattacagttttggaaagAcatcgttgatgataatgaag	9	4	1	4			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:46230382A>T	uc001ros.1	+	7	716	c.716A>T	c.(715-717)GAC>GTC	p.D239V	ARID2_uc001ror.2_Missense_Mutation_p.D239V|ARID2_uc009zkg.1_5'Flank|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'Flank	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	239					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTTGGAAAGACATCGTTGAT	0.274													T	46230382	A	T	46230382	3	4	25	1	0	0	0	0	1	0	0	0	915	275	10	5	742	5	ARID2	12	46230382	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	18728	46230382	87621513	834	23270											
COL2A1	1280	broad.mit.edu	37	chr12	48367966	48367966	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggatgagcagggccttcTtgaggttgccagctgcttcg	14	11	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:48367966T>C	uc001rqu.2	-	53	4404	c.4223A>G	c.(4222-4224)AAG>AGG	p.K1408R	COL2A1_uc001rqt.2_Missense_Mutation_p.K189R|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.K1339R	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1408	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CAGGGCCTTCTTGAGGTTGCC	0.572													C	48367966	T	C	48367966	3	2	25	1	0	0	0	0	1	0	0	0	3687	1609	56	3	248	3	COL2A1	12	48367966	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	2137584	48367966	85483929	835	23271											
MLL2	8085	broad.mit.edu	37	chr12	49420289	49420289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccgctcaatgtagacccGccggaagacagcaaaagagc	11	13	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:49420289G>A	uc001rta.3	-	48	15460	c.15460C>T	c.(15460-15462)CGG>TGG	p.R5154W		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5154					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						ATGTAGACCCGCCGGAAGACA	0.552			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49420289	G	A	49420289	3	1	25	1	0	0	0	0	1	0	0	0	9621	1086	38	1	1181	1	MLL2	12	49420289	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1052323	49420289	84431606	836	23272											
MLL2	8085	broad.mit.edu	37	chr12	49433849	49433849	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgcccaaggtggggccGggcccaaaatggctgttgat	16	10	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:49433849G>A	uc001rta.3	-	31	7704	c.7704C>T	c.(7702-7704)CCC>CCT	p.P2568P		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2568	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGGTGGGGCCGGGCCCAAAAT	0.632			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49433849	G	A	49433849	2	1	25	1	0	0	0	0	0	0	0	1	9621	1103	39	1		1	MLL2	12	49433849	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	13560	49433849	84418046	837	23273											
SPATS2	65244	broad.mit.edu	37	chr12	49908349	49908349	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttttcctagtttaatggatcGagaagtggcgttgcttgctg	12	6	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:49908349G>T	uc001rud.2	+	10	1840	c.851G>T	c.(850-852)CGA>CTA	p.R284L	SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Missense_Mutation_p.R284L|SPATS2_uc001ruf.2_Missense_Mutation_p.R284L|SPATS2_uc001rug.2_Missense_Mutation_p.R284L	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	284						cytoplasm				breast(1)	1						TTAATGGATCGAGAAGTGGCG	0.323													T	49908349	G	T	49908349	3	4	25	1	0	0	0	0	1	0	0	0	15018	1058	37	5	881	5	SPATS2	12	49908349	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	474500	49908349	83943546	838	23274											
SPATS2	65244	broad.mit.edu	37	chr12	49918545	49918545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgagtagcccaagtgatGcctctgctgcttcctcttcc	8	15	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:49918545G>A	uc001rud.2	+	13	2181	c.1192G>A	c.(1192-1194)GCC>ACC	p.A398T	SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Missense_Mutation_p.A398T|SPATS2_uc001ruf.2_Missense_Mutation_p.A398T|SPATS2_uc001rug.2_Missense_Mutation_p.A398T	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	398	Ser-rich.					cytoplasm				breast(1)	1						CCCAAGTGATGCCTCTGCTGC	0.488													A	49918545	G	A	49918545	3	1	25	1	0	0	0	0	1	0	0	0	15018	1319	46	2	1234	2	SPATS2	12	49918545	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	10196	49918545	83933350	839	23275											
FMNL3	91010	broad.mit.edu	37	chr12	50041505	50041505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttgtaagaacgaatgaatCggacaaatactgggaagaat	10	6	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:50041505C>T	uc001ruv.1	-	23	2993	c.2759G>A	c.(2758-2760)CGA>CAA	p.R920Q	FMNL3_uc001ruw.1_Missense_Mutation_p.R869Q|FMNL3_uc001rut.1_Missense_Mutation_p.R486Q|FMNL3_uc001ruu.1_Missense_Mutation_p.R770Q	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	920	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4						ACGAATGAATCGGACAAATAC	0.502													T	50041505	C	T	50041505	3	4	25	1	0	0	0	0	1	0	0	0	5953	884	31	1	340	1	FMNL3	12	50041505	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	122960	50041505	83810390	840	23276											
NR4A1	3164	broad.mit.edu	37	chr12	52448715	52448715	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaccggccccagccccagCctggcccagagccccctgaa	9	23	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:52448715C>A	uc001rzs.2	+	3	917	c.603C>A	c.(601-603)AGC>AGA	p.S201R	NR4A1_uc010sno.1_Missense_Mutation_p.S214R|NR4A1_uc001rzr.2_Missense_Mutation_p.S201R|NR4A1_uc009zmb.1_Missense_Mutation_p.S201R|NR4A1_uc001rzt.2_Missense_Mutation_p.S201R|NR4A1_uc009zmc.2_5'Flank	NM_002135	NP_002126	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	201					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCAGCCCCAGCCTGGCCCAGA	0.657													A	52448715	C	A	52448715	3	1	25	1	0	0	0	0	1	0	0	0	10632	738	26	5	605	5	NR4A1	12	52448715	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2407210	52448715	81403180	841	23277											
NR4A1	3164	broad.mit.edu	37	chr12	52450996	52450996	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctgaccaggacctgttGctggagtcggccttcctgga	14	13	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:52450996G>A	uc001rzs.2	+	6	1628	c.1314G>A	c.(1312-1314)TTG>TTA	p.L438L	NR4A1_uc010sno.1_Silent_p.L451L|NR4A1_uc001rzt.2_Silent_p.L438L|NR4A1_uc009zmc.2_Missense_Mutation_p.C52Y	NM_002135	NP_002126	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	438	Ligand-binding (Potential).				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0967)		AGGACCTGTTGCTGGAGTCGG	0.607													A	52450996	G	A	52450996	2	1	25	1	0	0	0	0	0	0	0	1	10632	1310	46	2		2	NR4A1	12	52450996	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2281	52450996	81400899	842	23278											
KRT77	374454	broad.mit.edu	37	chr12	53091532	53091532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttctggcgcatctgctccGcactgagcaaatccacctgc	9	16	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:53091532G>A	uc001saw.2	-	2	721	c.692C>T	c.(691-693)GCG>GTG	p.A231V	KRT77_uc009zmi.2_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	keratin 77	231	Coil 1B.|Rod.					keratin filament	structural molecule activity			ovary(1)	1						CATCTGCTCCGCACTGAGCAA	0.577													A	53091532	G	A	53091532	3	1	25	1	0	0	0	0	1	0	0	0	8490	1087	38	1	1076	1	KRT77	12	53091532	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	640536	53091532	80760363	843	23279											
KRT3	3850	broad.mit.edu	37	chr12	53189685	53189685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgccaaagccacctgctcCgctccggaagccataggccc	9	18	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:53189685C>T	uc001say.2	-	1	208	c.142G>A	c.(142-144)GGA>AGA	p.G48R		NM_057088	NP_476429	P12035	K2C3_HUMAN	keratin 3	48	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity				0						CCACCTGCTCCGCTCCGGAAG	0.672													T	53189685	C	T	53189685	3	4	25	1	0	0	0	0	1	0	0	0	8466	661	23	1	1780	1	KRT3	12	53189685	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	98153	53189685	80662210	844	23280											
TENC1	23371	broad.mit.edu	37	chr12	53457026	53457026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccagggcattacactgaCggacaaccaaaggaagtatg	11	10	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:53457026C>T	uc001sbp.2	+	26	4112	c.3977C>T	c.(3976-3978)ACG>ATG	p.T1326M	TENC1_uc001sbl.2_Missense_Mutation_p.T1202M|TENC1_uc001sbn.2_Missense_Mutation_p.T1336M|TENC1_uc001sbq.2_Missense_Mutation_p.T724M|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Missense_Mutation_p.T819M|TENC1_uc001sbs.2_Missense_Mutation_p.T145M	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	1326					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2						ATTACACTGACGGACAACCAA	0.587													T	53457026	C	T	53457026	3	4	25	1	0	0	0	0	1	0	0	0	15755	536	19	1	4188	1	TENC1	12	53457026	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	267341	53457026	80394869	845	23281											
ERBB3	2065	broad.mit.edu	37	chr12	56478927	56478927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactataacaccaactccaGccacgctctgcgccagctcc	6	18	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:56478927G>A	uc001sjh.2	+	3	576	c.383G>A	c.(382-384)AGC>AAC	p.S128N	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.S69N|ERBB3_uc001sjg.2_Missense_Mutation_p.S128N	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	128	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACCAACTCCAGCCACGCTCTG	0.577													A	56478927	G	A	56478927	3	1	25	1	0	0	0	0	1	0	0	0	5208	971	34	2	393	2	ERBB3	12	56478927	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3021901	56478927	77372968	846	23282											
PA2G4	5036	broad.mit.edu	37	chr12	56505000	56505000	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtttaaatttacagttctGctcatgcccaatggccccat	6	12	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:56505000G>A	uc001sjm.2	+	11	1391	c.972G>A	c.(970-972)CTG>CTA	p.L324L	PA2G4_uc009zol.2_Silent_p.L324L|PA2G4_uc009zom.2_Intron	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	ErbB3-binding protein 1	324	Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TTACAGTTCTGCTCATGCCCA	0.433													A	56505000	G	A	56505000	2	1	25	1	0	0	0	0	0	0	0	1	11361	1306	46	2		2	PA2G4	12	56505000	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	26073	56505000	77346895	847	23283											
ZC3H10	84872	broad.mit.edu	37	chr12	56514991	56514991	+	Frame_Shift_Del	DEL	C	C	-													cgccggcgaggtggatgctgCccccctgatggccctcattt							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:56514990_56514990GC>G	uc001sjp.1	+	2	833	c.644_644GC>G	c.(643-645)tgcfs	p.C215fs	ZC3H10_uc021qyw.1_Frame_Shift_Del_p.C215fs	NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	Homo sapiens zinc finger CCCH-type containing 10 (ZC3H10), mRNA.	215							nucleic acid binding|zinc ion binding	p.C214C(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GGTGGATGCTGCCCCCCTGAT	0.557													-	56514991	C	-	56514991	7	5	25	1	0	1	0	1	0	0	0	0	17556	747	26	0	647	0	ZC3H10	12	56514991	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	9991	56514991	77336904	848	23284											
PAN2	9924	broad.mit.edu	37	chr12	56721843	56721843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgatggtgactccaggcGtctctactgcatactggaga	11	10	2	3	rs139831098	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:56721843G>A	uc001skx.2	-	5	960	c.587C>T	c.(586-588)ACG>ATG	p.T196M	PAN2_uc001skz.2_Missense_Mutation_p.T196M|PAN2_uc001sky.2_Missense_Mutation_p.T196M	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	196					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						GACTCCAGGCGTCTCTACTGC	0.527													A	56721843	G	A	56721843	3	1	25	1	0	0	0	0	1	0	0	0	11414	1145	40	1	3109	1	PAN2	12	56721843	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	206852	56721843	77130052	849	23285											
BAZ2A	11176	broad.mit.edu	37	chr12	56995599	56995599	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtctggctcagccaagacaGgaaggctgactggctgaggt	15	9	2	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:56995599G>T	uc001slq.1	-	20	4002	c.3808C>A	c.(3808-3810)CTG>ATG	p.L1270M	BAZ2A_uc001slp.1_Missense_Mutation_p.L1268M|BAZ2A_uc001slo.1_Missense_Mutation_p.L98M|BAZ2A_uc009zov.1_Missense_Mutation_p.L240M|BAZ2A_uc009zow.1_Missense_Mutation_p.L1238M	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1270	Glu-rich.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding				0						AGCCAAGACAGGAAGGCTGAC	0.498													T	56995599	G	T	56995599	3	4	25	1	0	0	0	0	1	0	0	0	1331	991	35	5	1949	5	BAZ2A	12	56995599	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	273756	56995599	76856296	850	23286											
R3HDM2	22864	broad.mit.edu	37	chr12	57663593	57663593	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgagtaggtggtgcaTggctagaggtggaatagttg	17	4	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:57663593T>C	uc009zpm.1	-	13	1522	c.1487A>G	c.(1486-1488)CAT>CGT	p.H496R	R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_Missense_Mutation_p.H191R|R3HDM2_uc001snr.2_Missense_Mutation_p.H223R|R3HDM2_uc001sns.2_Missense_Mutation_p.H496R|R3HDM2_uc001snt.2_Missense_Mutation_p.H510R|R3HDM2_uc009zpn.1_Missense_Mutation_p.H119R	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	496	Gln-rich.					nucleus	nucleic acid binding			ovary(2)	2						AGGTGGTGCATGGCTAGAGGT	0.547													C	57663593	T	C	57663593	3	2	25	1	0	0	0	0	1	0	0	0	12888	1464	51	3	1483	3	R3HDM2	12	57663593	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	667994	57663593	76188302	851	23287											
SLC16A7	9194	broad.mit.edu	37	chr12	60169112	60169112	+	Frame_Shift_Del	DEL	T	T	-													gcctggtattatatgctgtaTtttttggccttggatttggg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:60169111_60169111AT>A	uc001sqs.3	+	4	1334	c.1035_1035AT>A	c.(1033-1035)gtafs	p.V345fs	SLC16A7_uc001sqt.3_Frame_Shift_Del_p.V345fs|SLC16A7_uc001squ.3_Frame_Shift_Del_p.V345fs|SLC16A7_uc009zqi.3_Frame_Shift_Del_p.V246fs|SLC16A7_uc010ssi.2_Frame_Shift_Del_p.V246fs	NM_004731	NP_004722	O60669	MOT2_HUMAN	Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA.	345						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TATATGCTGTATTTTTTGGCC	0.458													-	60169112	T	-	60169112	7	5	25	1	0	1	0	1	0	0	0	0	14413	1493	52	0	1046	0	SLC16A7	12	60169112	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	2505519	60169112	73682783	852	23288											
TMEM5	10329	broad.mit.edu	37	chr12	64196138	64196138	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcataatatatgacagcccCtggattaatgacgtggatgt	9	7	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:64196138C>T	uc001srq.1	+	4	800	c.696C>T	c.(694-696)CCC>CCT	p.P232P	TMEM5_uc001srr.1_Silent_p.P129P|TMEM5_uc001srs.1_5'UTR	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	232	Extracellular (Potential).					integral to plasma membrane					0		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		ATGACAGCCCCTGGATTAATG	0.383													T	64196138	C	T	64196138	2	4	25	1	0	0	0	0	0	0	0	1	16171	668	24	4		4	TMEM5	12	64196138	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	4027026	64196138	69655757	853	23289											
CPSF6	11052	broad.mit.edu	37	chr12	69656202	69656202	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagatcacgagaaaagagtCgacgtcataaatcccgtagt	10	8	2	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:69656202C>T	uc001sut.3	+	9	1629	c.1519C>T	c.(1519-1521)CGA>TGA	p.R507*	CPSF6_uc001suu.3_Nonsense_Mutation_p.R544*|CPSF6_uc010stk.1_Nonsense_Mutation_p.R139*	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6,	507	Arg-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			AGAAAAGAGTCGACGTCATAA	0.383													T	69656202	C	T	69656202	4	4	25	1	0	0	0	0	0	1	0	0	3829	876	31	1	1553	1	CPSF6	12	69656202	Nonsense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	5460064	69656202	64195693	854	23290											
MYF6	4618	broad.mit.edu	37	chr12	81101691	81101691	+	Frame_Shift_Del	DEL	C	C	-													gagaggaacatgtcctggcgCccccgggcctgcagcctcca							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:81101690_81101690GC>G	uc001szf.2	+	0	283	c.192_192GC>G	c.(190-192)gcgfs	p.A64fs		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	64					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	p.A64V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						ATGTCCTGGCGCCCCCGGGCC	0.637													-	81101691	C	-	81101691	7	5	25	1	0	1	0	1	0	0	0	0	10028	739	26	0	195	0	MYF6	12	81101691	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	11445489	81101691	52750204	855	23291											
LRRIQ1	84125	broad.mit.edu	37	chr12	85546106	85546106	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagattccacccgcttccctTcacaaacactgcttctttca	3	16	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:85546106T>A	uc001tac.2	+	20	4489	c.4378T>A	c.(4378-4380)TCA>ACA	p.S1460T		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1460										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		CCGCTTCCCTTCACAAACACT	0.383													A	85546106	T	A	85546106	3	1	25	1	0	0	0	0	1	0	0	0	9029	1783	62	5	4456	5	LRRIQ1	12	85546106	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	4444415	85546106	48305789	856	23292											
ATP2B1	490	broad.mit.edu	37	chr12	90020290	90020290	+	Frame_Shift_Del	DEL	T	T	-													cttgtaaaacagatttttccTtttttggcaaatttgctttc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:90020290delT	uc001tbh.2	-	7	1251	c.1070delA	c.(1069-1071)AAGfs	p.K357fs	ATP2B1_uc001tbg.2_Frame_Shift_Del_p.K357fs|ATP2B1_uc001tbf.2_Frame_Shift_Del_p.K27fs	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	357	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						AGATTTTTCCTTTTTTGGCAA	0.358													-	90020290	T	-	90020290	7	5	25	1	0	1	0	1	0	0	0	0	1139	1609	56	0	2806	0	ATP2B1	12	90020290	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	4474184	90020290	43831605	857	23293											
TMCC3	57458	broad.mit.edu	37	chr12	94976112	94976112	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcactagtttcagatactccGcaacattcccatcgcgcgat	6	14	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:94976112G>T	uc001tdj.2	-	2	399	c.281C>A	c.(280-282)GCG>GAG	p.A94E	TMCC3_uc001tdi.2_Missense_Mutation_p.A63E	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	94						integral to membrane				ovary(1)|skin(1)	2						CAGATACTCCGCAACATTCCC	0.453													T	94976112	G	T	94976112	3	4	25	1	0	0	0	0	1	0	0	0	15991	1087	38	5	1164	5	TMCC3	12	94976112	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	4955822	94976112	38875783	858	23294											
SLC17A8	246213	broad.mit.edu	37	chr12	100774527	100774527	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gataacattgagctgaatgaAgaaggaaggccggtgcagac	14	6	0	5			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:100774527A>T	uc010svi.1	+	2	463	c.150A>T	c.(148-150)GAA>GAT	p.E50D	SLC17A8_uc009ztx.2_Missense_Mutation_p.E50D	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	50	Cytoplasmic (Potential).				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3						AGCTGAATGAAGAAGGAAGGC	0.493													T	100774527	A	T	100774527	3	4	25	1	0	0	0	0	1	0	0	0	14423	69	3	5	156	5	SLC17A8	12	100774527	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	5798415	100774527	33077368	859	23295											
ALDH1L2	160428	broad.mit.edu	37	chr12	105467707	105467707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactcggtggccctctttgCggaggtggctatagacttct	12	11	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:105467707C>T	uc001tlc.2	-	2	252	c.125G>A	c.(124-126)CGC>CAC	p.R42H	ALDH1L2_uc009zup.2_RNA	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	42	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			skin(1)	1						GCCCTCTTTGCGGAGGTGGCT	0.478													T	105467707	C	T	105467707	3	4	25	1	0	0	0	0	1	0	0	0	495	768	27	1	2734	1	ALDH1L2	12	105467707	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	4693180	105467707	28384188	860	23296											
C12orf51	283450	broad.mit.edu	37	chr12	112600860	112600861	+	Frame_Shift_Ins	INS	-	-	G													ggtacctgctgtgccatctgINSggggggcgatcttcatgggg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:112600859_112600860T>TG	uc021reb.1	-	74	13100_13101	c.12704_12705A>CA	c.(12703-12705)ccafs	p.P4235fs		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CTGTGCCATCTGGGGGGGCGAT	0.629													G	112600861	-	G	112600860	7	5	25	1	0	1	1	0	0	0	0	0	1696	1348	47	0	158	0	C12orf51	12	112600860	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	7133153	112600860	21251035	861	23297											
C12orf51	283450	broad.mit.edu	37	chr12	112622701	112622701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgatgagcagggtgagtgCgcggtggaaccacagcatgt	17	7	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:112622701C>T	uc009zwc.2	-	54	8821	c.8803G>A	c.(8803-8805)GCA>ACA	p.A2935T		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						AGGGTGAGTGCGCGGTGGAAC	0.677													T	112622701	C	T	112622701	3	4	25	1	0	0	0	0	1	0	0	0	1696	768	27	1	3251	1	C12orf51	12	112622701	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	21841	112622701	21229194	862	23298											
TBX5	6910	broad.mit.edu	37	chr12	114804092	114804092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacactggtattgggaccccAaattggatgaggtggagaga	14	7	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:114804092A>G	uc001tvo.2	-	8	1355	c.860T>C	c.(859-861)TTG>TCG	p.L287S	TBX5_uc001tvp.2_Missense_Mutation_p.L287S|TBX5_uc001tvq.2_Missense_Mutation_p.L237S|TBX5_uc010syv.1_Missense_Mutation_p.L287S	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	287					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTGGGACCCCAAATTGGATGA	0.577													G	114804092	A	G	114804092	3	3	25	1	0	0	0	0	1	0	0	0	15658	131	5	3	771	3	TBX5	12	114804092	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	2181391	114804092	19047803	863	23299											
CCDC64	92558	broad.mit.edu	37	chr12	120530903	120530903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggggccacagcgctgggCggggggatgagcccagcatc	19	12	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:120530903C>T	uc001txl.1	+	9	1685	c.1660C>T	c.(1660-1662)CGG>TGG	p.R554W	CCDC64_uc009zwv.1_RNA|CCDC64_uc010sze.1_Missense_Mutation_p.R225W|CCDC64_uc010szf.1_Missense_Mutation_p.R251W	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	554					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			ovary(2)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCGCTGGGCGGGGGGATGA	0.592													T	120530903	C	T	120530903	3	4	25	1	0	0	0	0	1	0	0	0	2835	759	27	1	1694	1	CCDC64	12	120530903	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	5726811	120530903	13320992	864	23300											
ABCB9	23457	broad.mit.edu	37	chr12	123444274	123444274	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcttctgcagcgtggccccaGacgcctgctcgggcggtggc	16	15	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:123444274G>T	uc001udm.3	-	2	819	c.509C>A	c.(508-510)TCT>TAT	p.S170Y	ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Missense_Mutation_p.S170Y|ABCB9_uc010taj.1_Missense_Mutation_p.S170Y|ABCB9_uc001udp.2_Missense_Mutation_p.S170Y|ABCB9_uc001udq.2_Translation_Start_Site|ABCB9_uc001udr.2_Missense_Mutation_p.S170Y	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	170					positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CGTGGCCCCAGACGCCTGCTC	0.701													T	123444274	G	T	123444274	3	4	25	1	0	0	0	0	1	0	0	0	48	942	33	5	1835	5	ABCB9	12	123444274	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2913371	123444274	10407621	865	23301											
RIMBP2	23504	broad.mit.edu	37	chr12	130898786	130898786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatccgggccgggagctcttCggcaccagggtcagtttctg	15	12	3	0	rs138034003		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:130898786C>T	uc001uil.2	-	14	2700	c.2536G>A	c.(2536-2538)GAA>AAA	p.E846K		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	846						cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGGAGCTCTTCGGCACCAGGG	0.567													T	130898786	C	T	130898786	3	4	25	1	0	0	0	0	1	0	0	0	13363	893	31	1	646	1	RIMBP2	12	130898786	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	7454512	130898786	2953109	866	23302											
SFRS8	6433	broad.mit.edu	37	chr12	132237851	132237851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgggaccacaccactacCgcccccaaccacagcagaga	7	19	0	1	rs149701391	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:132237851C>T	uc001uja.1	+	8	1405	c.1265C>T	c.(1264-1266)CCG>CTG	p.P422L	SFRS8_uc010tbn.1_Missense_Mutation_p.P422L|SFRS8_uc001ujb.1_Missense_Mutation_p.P215L|SFRS8_uc001uiz.1_Missense_Mutation_p.P296L	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	422	Poly-Pro.				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		ACACCACTACCGCCCCCAACC	0.627													T	132237851	C	T	132237851	3	4	25	1	0	0	0	0	1	0	0	0	14183	652	23	1	1295	1	SFRS8	12	132237851	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1339065	132237851	1614044	867	23303											
ANKLE2	23141	broad.mit.edu	37	chr12	133304630	133304630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacatacctctgtctgtccGagggtgagtagcacaggaca	11	12	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:133304630G>A	uc001ukx.2	-	12	2670	c.2603C>T	c.(2602-2604)TCG>TTG	p.S868L	ANKLE2_uc009zyw.1_Missense_Mutation_p.S223L	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	868						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CTGTCTGTCCGAGGGTGAGTA	0.577													A	133304630	G	A	133304630	3	1	25	1	0	0	0	0	1	0	0	0	633	1059	37	1	221	1	ANKLE2	12	133304630	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1066779	133304630	547265	868	23304											
TNFRSF19	55504	broad.mit.edu	37	chr13	24234605	24234605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagagcctgctgccagtgcCgccgtgactcagtgcagacc	12	15	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:24234605C>T	uc001uov.1	+	7	776	c.712C>T	c.(712-714)CGC>TGC	p.R238C	TNFRSF19_uc001uot.2_Missense_Mutation_p.R238C|TNFRSF19_uc010tcu.1_Missense_Mutation_p.R106C|TNFRSF19_uc001uow.2_Missense_Mutation_p.R238C	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily,	238	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			kidney(1)|skin(1)	2		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		CTGCCAGTGCCGCCGTGACTC	0.557													T	24234605	C	T	24234605	3	4	25	1	0	0	0	0	1	0	0	0	16289	652	23	1	734	1	TNFRSF19	13	24234605	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08		24234605	90935273	869	23305											
CENPJ	55835	broad.mit.edu	37	chr13	25487066	25487066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccaaaataggaaatccaCgatttaatatgaccccagcc	5	12	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:25487066C>T	uc001upt.3	-	2	351	c.98G>A	c.(97-99)CGT>CAT	p.R33H	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	33					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AGGAAATCCACGATTTAATAT	0.448													T	25487066	C	T	25487066	3	4	25	1	0	0	0	0	1	0	0	0	3234	536	19	1	3982	1	CENPJ	13	25487066	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1252461	25487066	89682812	870	23306											
SHISA2	387914	broad.mit.edu	37	chr13	26621193	26621193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaacaatgaggaacggcaCgtagatgggcactgaagcaa	13	9	0	3	rs113091428	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:26621193C>T	uc001uqm.1	-	2	431	c.346G>A	c.(346-348)GTG>ATG	p.V116M		NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN	shisa homolog 2 precursor	116	Helical; (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2						AGGAACGGCACGTAGATGGGC	0.507													T	26621193	C	T	26621193	3	4	25	1	0	0	0	0	1	0	0	0	14280	536	19	1	545	1	SHISA2	13	26621193	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1134127	26621193	88548685	871	23307											
MTUS2	23281	broad.mit.edu	37	chr13	29599208	29599208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatagcctgcagaccacgCggagtattcagggaccaagt	12	11	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:29599208C>T	uc001usl.3	+	1	461	c.403C>T	c.(403-405)CGG>TGG	p.R135W		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	125						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						GCAGACCACGCGGAGTATTCA	0.498													T	29599208	C	T	29599208	3	4	25	1	0	0	0	0	1	0	0	0	9966	759	27	1	405	1	MTUS2	13	29599208	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2978015	29599208	85570670	872	23308											
FRY	10129	broad.mit.edu	37	chr13	32792901	32792901	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaaggtttagtaatgtcatCagagcccacactcgcctcga	9	11	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:32792901C>A	uc001utx.2	+	36	5194	c.4698C>A	c.(4696-4698)ATC>ATA	p.I1566I	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GTAATGTCATCAGAGCCCACA	0.363													A	32792901	C	A	32792901	2	1	25	1	0	0	0	0	0	0	0	1	6063	816	29	5		5	FRY	13	32792901	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3193693	32792901	82376977	873	23309											
PDS5B	23047	broad.mit.edu	37	chr13	33338669	33338669	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagtgaaaatgaagattaCacaatgtcttcacctttgcc	6	10	2	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:33338669C>T	uc010abf.2	+	31	3719	c.3561C>T	c.(3559-3561)TAC>TAT	p.Y1187Y	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1187					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		ATGAAGATTACACAATGTCTT	0.313													T	33338669	C	T	33338669	2	4	25	1	0	0	0	0	0	0	0	1	11692	489	17	4		4	PDS5B	13	33338669	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	545768	33338669	81831209	874	23310											
PDS5B	23047	broad.mit.edu	37	chr13	33344618	33344618	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaccagaggaggaggaAgaagaagaaagacaaagtgg	15	6	0	5			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:33344618A>G	uc010abf.2	+	32	4142	c.3984A>G	c.(3982-3984)GAA>GAG	p.E1328E	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1328					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGGAGGAGGAAGAAGAAGAAA	0.433													G	33344618	A	G	33344618	2	3	25	1	0	0	0	0	0	0	0	1	11692	69	3	3		3	PDS5B	13	33344618	Silent	SNP	A	TCGA-BR-4370-01A-01D-1158-08	5949	33344618	81825260	875	23311											
KL	9365	broad.mit.edu	37	chr13	33590992	33590992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttccgcgacacggaggcGctgcgcgagctcggggtcac	16	14	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:33590992G>A	uc001uus.2	+	1	422	c.414G>A	c.(412-414)GCG>GCA	p.A138A	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	138	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ACACGGAGGCGCTGCGCGAGC	0.711													A	33590992	G	A	33590992	2	1	25	1	0	0	0	0	0	0	0	1	8331	1074	38	1		1	KL	13	33590992	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	246374	33590992	81578886	876	23312											
C13orf36	400120	broad.mit.edu	37	chr13	37269458	37269458	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctacccagagtatccaagCgacgctggaagttctttcac	8	13	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:37269458C>T	uc001uvt.3	+	2	689	c.243C>T	c.(241-243)AGC>AGT	p.S81S		NM_203451	NP_982276	A2A2V5	CM036_HUMAN	hypothetical protein LOC400120	81						integral to membrane				skin(1)	1						AGTATCCAAGCGACGCTGGAA	0.453													T	37269458	C	T	37269458	2	4	25	1	0	0	0	0	0	0	0	1	1730	767	27	1		1	C13orf36	13	37269458	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3678466	37269458	77900420	877	23313											
CPB2	1361	broad.mit.edu	37	chr13	46658416	46658416	+	Frame_Shift_Del	DEL	A	A	-													tcgacatcagatgcatttacAaaaaaatggacttgtttttt							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:46658415_46658415CA>C	uc001vaw.3	-	2	281	c.214_214TG>G	c.(214-216)gtafs	p.V72fs	AK124928_uc001vau.1_Intron|AK124928_uc001vav.1_Intron|CPB2_uc001vax.3_Frame_Shift_Del_p.V72fs	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	Homo sapiens carboxypeptidase B2 (plasma) (CPB2), transcript variant 1, mRNA.	72					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GATGCATTTACAAAAAAATGG	0.358													-	46658416	A	-	46658416	7	5	25	1	0	1	0	1	0	0	0	0	3797	127	5	0	1094	0	CPB2	13	46658416	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	9388958	46658416	68511462	878	23314											
FNDC3A	22862	broad.mit.edu	37	chr13	49705293	49705293	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttattgaagacaatggtgtTcgaagagttgtcgtggtccc	13	6	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:49705293T>C	uc001vcm.2	+	5	578	c.273T>C	c.(271-273)GTT>GTC	p.V91V	FNDC3A_uc001vcl.1_Silent_p.V91V|FNDC3A_uc001vcn.2_Silent_p.V91V|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Silent_p.V35V|FNDC3A_uc001vcq.2_Silent_p.V35V	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	91	Pro-rich.					Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ACAATGGTGTTCGAAGAGTTG	0.393													C	49705293	T	C	49705293	2	2	25	1	0	0	0	0	0	0	0	1	5969	1770	62	3		3	FNDC3A	13	49705293	Silent	SNP	T	TCGA-BR-4370-01A-01D-1158-08	3046877	49705293	65464585	879	23315											
CCDC70	83446	broad.mit.edu	37	chr13	52439593	52439593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatggggcttgcctgcttcCggtccctggcggcatcctct	14	14	1	0	rs140119115	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:52439593C>T	uc001vfu.3	+	2	375	c.79C>T	c.(79-81)CGG>TGG	p.R27W	uc010tgr.1_RNA	NM_031290	NP_112580	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70 precursor	27						extracellular region|plasma membrane					0		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		TGCCTGCTTCCGGTCCCTGGC	0.532													T	52439593	C	T	52439593	3	4	25	1	0	0	0	0	1	0	0	0	2843	643	23	1	81	1	CCDC70	13	52439593	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2734300	52439593	62730285	880	23316											
DACH1	1602	broad.mit.edu	37	chr13	72049984	72049984	+	Splice_Site	DEL	A	A	-													gcctcttttgaactatggctAaaaaagagtgtatgcatatt							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:72049983_72049983TA>T	uc021rkj.1	-	9	2300	c.1877_splice	c.e9-1	p.A626_splice	DACH1_uc021rkk.1_Splice_Site_p.A478_splice|DACH1_uc021rkl.1_Splice_Site_p.A424_splice	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	676	DACHbox-C.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GAACTATGGCTAAAAAAGAGT	0.308													-	72049984	A	-	72049984	8	5	25	1	0	1	0	1	0	0	1	0	4220	377	13	0		0	DACH1	13	72049984	Splice_Site	DEL	A	TCGA-BR-4370-01A-01D-1158-08	19610391	72049984	43119894	881	23317											
PIBF1	10464	broad.mit.edu	37	chr13	73369627	73369627	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgcgtgactttgagttgAcagaagagcaatatattaaa	9	6	0	5			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:73369627A>G	uc001vjc.2	+	4	789	c.484A>G	c.(484-486)ACA>GCA	p.T162A	PIBF1_uc001vja.1_Missense_Mutation_p.T162A|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.T162A|PIBF1_uc010aep.2_Intron	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	progesterone-induced blocking factor 1	162						centrosome				ovary(1)|breast(1)	2		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CTTTGAGTTGACAGAAGAGCA	0.338													G	73369627	A	G	73369627	3	3	25	1	0	0	0	0	1	0	0	0	11879	275	10	3	494	3	PIBF1	13	73369627	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	1319643	73369627	41800251	882	23318											
MYCBP2	23077	broad.mit.edu	37	chr13	77672645	77672645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggggcattttcttcttgcGgagggtatctggatcaagtg	15	6	4	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:77672645G>A	uc001vkf.2	-	57	8621	c.8530C>T	c.(8530-8532)CGC>TGC	p.R2844C	MYCBP2_uc010aev.2_Missense_Mutation_p.R2248C|MYCBP2_uc001vkg.1_Missense_Mutation_p.R367C|MYCBP2_uc010aew.2_Missense_Mutation_p.R230C	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2844					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTCTTCTTGCGGAGGGTATCT	0.443													A	77672645	G	A	77672645	3	1	25	1	0	0	0	0	1	0	0	0	10018	1116	39	1	5504	1	MYCBP2	13	77672645	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	4303018	77672645	37497233	883	23319											
MYCBP2	23077	broad.mit.edu	37	chr13	77779485	77779485	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgaaacgtatagcttctactGaatgggcagaataaccccag	9	9	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:77779485G>T	uc001vkf.2	-	27	3726	c.3635C>A	c.(3634-3636)TCA>TAA	p.S1212*	MYCBP2_uc010aev.2_Nonsense_Mutation_p.S616*	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGCTTCTACTGAATGGGCAGA	0.358													T	77779485	G	T	77779485	4	4	25	1	0	0	0	0	0	1	0	0	10018	1294	45	5	10519	5	MYCBP2	13	77779485	Nonsense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	106840	77779485	37390393	884	23320											
MYCBP2	23077	broad.mit.edu	37	chr13	77807400	77807400	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaaatacaagggggccTgaggagaaacattttgtatg	12	7	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:77807400T>C	uc001vkf.2	-	19	2607	c.2516_splice	c.e19-1	p.G839_splice	MYCBP2_uc010aev.2_Splice_Site_p.G243_splice	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAAGGGGGCCTGAGGAGAAAC	0.358													C	77807400	T	C	77807400	5	2	25	1	0	0	0	0	0	0	1	0	10018	1594	55	3	11672	3	MYCBP2	13	77807400	Splice_Site	SNP	T	TCGA-BR-4370-01A-01D-1158-08	27915	77807400	37362478	885	23321											
SLITRK1	114798	broad.mit.edu	37	chr13	84454312	84454312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctaggttttgcagccccGcgaatttctcccgggacagc	10	14	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:84454312G>A	uc001vlk.2	-	1	2217	c.1331C>T	c.(1330-1332)GCG>GTG	p.A444V		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	444	LRR 9.|Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTGCAGCCCCGCGAATTTCTC	0.502													A	84454312	G	A	84454312	3	1	25	1	0	0	0	0	1	0	0	0	14742	1087	38	1	763	1	SLITRK1	13	84454312	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	6646912	84454312	30715566	886	23322											
UGGT2	55757	broad.mit.edu	37	chr13	96589280	96589280	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatgtttaaagggttcAccattataaagagcttgagg	9	6	3	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:96589280A>G	uc001vmt.2	-	17	2045	c.1875T>C	c.(1873-1875)GGT>GGC	p.G625G		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	625					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3						TAAAGGGTTCACCATTATAAA	0.328													G	96589280	A	G	96589280	2	3	25	1	0	0	0	0	0	0	0	1	16939	146	6	3		3	UGGT2	13	96589280	Silent	SNP	A	TCGA-BR-4370-01A-01D-1158-08	12134968	96589280	18580598	887	23323											
MBNL2	10150	broad.mit.edu	37	chr13	97999281	97999281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccaagccaaccaagctgCggtggccgcccaggcagccg	13	17	0	0	rs148388439		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:97999281C>T	uc010aft.2	+	5	1580	c.764C>T	c.(763-765)GCG>GTG	p.A255V	MBNL2_uc001vmz.2_Missense_Mutation_p.A255V|MBNL2_uc001vna.2_Missense_Mutation_p.A255V|MBNL2_uc001vnb.2_Intron|MBNL2_uc010tij.1_Intron|MBNL2_uc001vnc.2_5'Flank	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	muscleblind-like 2 isoform 1	255					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding				0	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AACCAAGCTGCGGTGGCCGCC	0.657													T	97999281	C	T	97999281	3	4	25	1	0	0	0	0	1	0	0	0	9354	768	27	1	778	1	MBNL2	13	97999281	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1410001	97999281	17170597	888	23324											
IPO5	3843	broad.mit.edu	37	chr13	98664543	98664543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggctttgtggagtacaCcgaacaggttgtcaaactga	13	7	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:98664543C>T	uc001vnf.1	+	18	2164	c.2099C>T	c.(2098-2100)ACC>ATC	p.T700I	IPO5_uc001vne.2_Missense_Mutation_p.T718I|IPO5_uc010tik.1_Missense_Mutation_p.T575I|IPO5_uc010til.1_Missense_Mutation_p.T640I|IPO5_uc001vng.1_Missense_Mutation_p.T321I	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	700					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						GTGGAGTACACCGAACAGGTT	0.353													T	98664543	C	T	98664543	3	4	25	1	0	0	0	0	1	0	0	0	7796	507	18	4	2227	4	IPO5	13	98664543	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	665262	98664543	16505335	889	23325											
DOCK9	23348	broad.mit.edu	37	chr13	99481978	99481978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcccccaatgccaacaacGtctgctatcagctggctgac	8	15	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:99481978G>A	uc001vnt.2	-	42	4657	c.4602C>T	c.(4600-4602)GAC>GAT	p.D1534D	DOCK9_uc001vnw.2_Silent_p.D1533D|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.D1534D|DOCK9_uc001vnq.2_Silent_p.D106D|DOCK9_uc001vnr.2_Silent_p.D177D|DOCK9_uc010tin.1_Silent_p.D177D|DOCK9_uc001vns.2_Silent_p.D106D|DOCK9_uc010tio.1_Silent_p.D226D|DOCK9_uc010tip.1_Silent_p.D244D|DOCK9_uc001vnu.1_Silent_p.D106D|DOCK9_uc010tiq.1_Silent_p.D512D	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1534	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGCCAACAACGTCTGCTATCA	0.507													A	99481978	G	A	99481978	2	1	25	1	0	0	0	0	0	0	0	1	4694	1136	40	1		1	DOCK9	13	99481978	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	817435	99481978	15687900	890	23326											
TM9SF2	9375	broad.mit.edu	37	chr13	100191740	100191740	+	Frame_Shift_Del	DEL	C	C	-													ataaaccagactgctcagggCcccccatggacataagtaac							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:100191739_100191739GC>G	uc001voj.1	+	6	889	c.756_756GC>G	c.(754-756)gggfs	p.G252fs	TM9SF2_uc010afz.1_Intron	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA.	252					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					ACTGCTCAGGGCCCCCCATGG	0.388													-	100191740	C	-	100191740	7	5	25	1	0	1	0	1	0	0	0	0	15975	739	26	0	783	0	TM9SF2	13	100191740	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	709762	100191740	14978138	891	23327											
TPP2	7174	broad.mit.edu	37	chr13	103289546	103289546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtagacacataaacatacGtgtggatcccaggggcttaa	10	8	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:103289546G>A	uc001vpi.3	+	14	1896	c.1793G>A	c.(1792-1794)CGT>CAT	p.R598H		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	598					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATAAACATACGTGTGGATCCC	0.363													A	103289546	G	A	103289546	3	1	25	1	0	0	0	0	1	0	0	0	16409	1145	40	1	1847	1	TPP2	13	103289546	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3097806	103289546	11880332	892	23328											
FAM155A	728215	broad.mit.edu	37	chr13	108518636	108518636	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgctcgccaggagcgcgggCcaggagggctcctgctgccg	17	14	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:108518636C>G	uc001vql.2	-	1	825	c.309G>C	c.(307-309)TGG>TGC	p.W103C		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	103						integral to membrane	binding			skin(1)	1						GGAGCGCGGGCCAGGAGGgct	0.423													G	108518636	C	G	108518636	3	3	25	1	0	0	0	0	1	0	0	0	5465	740	26	5	1079	5	FAM155A	13	108518636	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	5229090	108518636	6651242	893	23329											
ATP11A	23250	broad.mit.edu	37	chr13	113439565	113439565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagacaacaggatcgtctcGtccaaggtaacttggcttgg	11	11	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:113439565G>A	uc001vsi.3	+	2	244	c.156G>A	c.(154-156)TCG>TCA	p.S52S	ATP11A_uc001vsj.3_Silent_p.S52S|ATP11A_uc001vsm.1_5'UTR	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	52	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GGATCGTCTCGTCCAAGGTAA	0.562													A	113439565	G	A	113439565	2	1	25	1	0	0	0	0	0	0	0	1	1119	1132	40	1		1	ATP11A	13	113439565	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	4920929	113439565	1730313	894	23330											
F10	2159	broad.mit.edu	37	chr13	113793678	113793678	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctctttgcagatggcgaCcagtgtgagaccagtccttg	11	12	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:113793678C>T	uc001vsx.2	+	4	321	c.264C>T	c.(262-264)GAC>GAT	p.D88D	F10_uc010agq.1_RNA|F10_uc001vsy.2_Silent_p.D88D|F10_uc001vsz.2_Silent_p.D88D	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	88	EGF-like 1; calcium-binding (Potential).				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			pancreas(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGATGGCGACCAGTGTGAGA	0.512													T	113793678	C	T	113793678	2	4	25	1	0	0	0	0	0	0	0	1	5336	506	18	4		4	F10	13	113793678	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	354113	113793678	1376200	895	23331											
GAS6	2621	broad.mit.edu	37	chr13	114525103	114525103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacgtgctcttggccgtcGcagaccttgatctccattag	9	14	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:114525103G>A	uc001vud.2	-	14	1863	c.1710C>T	c.(1708-1710)TGC>TGT	p.C570C	GAS6_uc001vug.2_Silent_p.C271C|GAS6_uc001vuf.2_Silent_p.C297C	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	613	Laminin G-like 2.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CTTGGCCGTCGCAGACCTTGA	0.687													A	114525103	G	A	114525103	2	1	25	1	0	0	0	0	0	0	0	1	6249	1079	38	1		1	GAS6	13	114525103	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	731425	114525103	644775	896	23332											
TEP1	7011	broad.mit.edu	37	chr14	20850088	20850088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacctgcgcagactctggaCgaggcaggcaaacgggccca	14	13	1	1	rs61739723		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:20850088C>T	uc001vxe.2	-	30	4448	c.4408G>A	c.(4408-4410)GTC>ATC	p.V1470I	TEP1_uc010ahk.2_Missense_Mutation_p.V813I|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.V1362I|TEP1_uc010tlh.1_5'UTR	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1470	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGACTCTGGACGAGGCAGGCA	0.607													T	20850088	C	T	20850088	3	4	25	1	0	0	0	0	1	0	0	0	15756	536	19	1	3579	1	TEP1	14	20850088	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08		20850088	86499452	897	23333											
ABHD4	63874	broad.mit.edu	37	chr14	23072897	23072897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactaaccccagtgagatcCgtgcacccccagcctgggtc	9	17	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:23072897C>T	uc001wgm.2	+	4	622	c.553C>T	c.(553-555)CGT>TGT	p.R185C	ABHD4_uc010tmz.1_3'UTR|ABHD4_uc010tna.1_Missense_Mutation_p.R185C|ABHD4_uc010tnb.1_Intron	NM_022060	NP_071343	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	185				EIR -> GIC (in Ref. 1; BAB14289).	lipid catabolic process		hydrolase activity			central_nervous_system(1)	1	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		CAGTGAGATCCGTGCACCCCC	0.557													T	23072897	C	T	23072897	3	4	25	1	0	0	0	0	1	0	0	0	84	652	23	1	567	1	ABHD4	14	23072897	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2222809	23072897	84276643	898	23334											
CPNE6	9362	broad.mit.edu	37	chr14	24546806	24546807	+	Frame_Shift_Ins	INS	-	-	C													ctgtccccaccctaggctgcINScccctctgcactcgccaagt							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:24546805_24546806G>GC	uc010tnv.2	+	16	1851_1852	c.1705_1706G>GC	c.(1705-1707)gccfs	p.A569fs	CPNE6_uc001wlm.3_Frame_Shift_Ins_p.A339fs|CPNE6_uc001wll.3_Frame_Shift_Ins_p.A514fs|CPNE6_uc001wln.3_3'UTR	NM_006032	NP_006023	O95741	CPNE6_HUMAN	Homo sapiens copine VI (neuronal) (CPNE6), mRNA.	514					lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		ACCCTAGGCTGCCCCCTCTGCA	0.658													C	24546807	-	C	24546806	7	5	25	1	0	1	1	0	0	0	0	0	3816	739	26	0	1599	0	CPNE6	14	24546806	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	1473909	24546806	82802734	899	23335											
IRF9	10379	broad.mit.edu	37	chr14	24632182	24632182	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttctttcctaggcctgggCaatatttaagggaaagtata	9	7	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:24632182C>A	uc001wmq.2	+	3	315	c.188C>A	c.(187-189)GCA>GAA	p.A63E	RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_5'UTR	NM_006084	NP_006075	Q00978	IRF9_HUMAN	interferon-stimulated transcription factor 3,	63	IRF tryptophan pentad repeat.				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00853)		TAGGCCTGGGCAATATTTAAG	0.433													A	24632182	C	A	24632182	3	1	25	1	0	0	0	0	1	0	0	0	7837	710	25	5	194	5	IRF9	14	24632182	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	85376	24632182	82717358	900	23336											
NPAS3	64067	broad.mit.edu	37	chr14	34243648	34243648	+	Frame_Shift_Del	DEL	C	C	-													ttgttgcgcatgccttgcctCcccctacgatcaatgaagtc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:34243647_34243647TC>T	uc001wru.3	+	7	1021	c.957_957TC>T	c.(955-957)cctfs	p.P319fs	NPAS3_uc001wrs.3_Frame_Shift_Del_p.P306fs|NPAS3_uc001wrv.3_Frame_Shift_Del_p.P289fs|NPAS3_uc001wrt.3_Frame_Shift_Del_p.P287fs	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	319	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.S319I(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ATGCCTTGCCTCCCCCTACGA	0.493													-	34243648	C	-	34243648	7	5	25	1	0	1	0	1	0	0	0	0	10564	855	30	0	1043	0	NPAS3	14	34243648	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	9611466	34243648	73105892	901	23337											
NPAS3	64067	broad.mit.edu	37	chr14	34269189	34269189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcagatcaaggtggagcGctacgtggagagcgagtcgg	18	7	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:34269189G>A	uc001wru.2	+	12	1740	c.1676G>A	c.(1675-1677)CGC>CAC	p.R559H	NPAS3_uc001wrs.2_Missense_Mutation_p.R546H|NPAS3_uc001wrt.2_Missense_Mutation_p.R527H|NPAS3_uc001wrv.2_Missense_Mutation_p.R529H	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AAGGTGGAGCGCTACGTGGAG	0.672													A	34269189	G	A	34269189	3	1	25	1	0	0	0	0	1	0	0	0	10564	1087	38	1	1777	1	NPAS3	14	34269189	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	25541	34269189	73080351	902	23338											
BRMS1L	84312	broad.mit.edu	37	chr14	36302264	36302264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaccagaatacttggaacCgctggcaactttacaggaaa	9	10	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:36302264C>T	uc001wtl.2	+	3	440	c.314C>T	c.(313-315)CCG>CTG	p.P105L	BRMS1L_uc010tpx.1_Missense_Mutation_p.P57L	NM_032352	NP_115728	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	105					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				skin(1)	1	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		TACTTGGAACCGCTGGCAACT	0.353													T	36302264	C	T	36302264	3	4	25	1	0	0	0	0	1	0	0	0	1517	652	23	1	324	1	BRMS1L	14	36302264	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2033075	36302264	71047276	903	23339											
BRMS1L	84312	broad.mit.edu	37	chr14	36304094	36304094	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatctgtaaagaacaaatatGaatgtgaaattcaagcttct	6	5	3	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:36304094G>A	uc001wtl.2	+	4	532	c.406G>A	c.(406-408)GAA>AAA	p.E136K	BRMS1L_uc010tpx.1_Missense_Mutation_p.E88K	NM_032352	NP_115728	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	136					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				skin(1)	1	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		GAACAAATATGAATGTGAAAT	0.358													A	36304094	G	A	36304094	3	1	25	1	0	0	0	0	1	0	0	0	1517	1291	45	4	420	4	BRMS1L	14	36304094	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1830	36304094	71045446	904	23340											
SEC23A	10484	broad.mit.edu	37	chr14	39514487	39514487	+	Frame_Shift_Del	DEL	A	A	-													ctctcatcaggactattgttAaaaacttgcaggaaagaaga							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:39514486_39514486TA>T	uc001wup.1	-	15	2003	c.1780_1780TA>A	c.(1780-1782)aacfs	p.N594fs	SEC23A_uc010tqa.1_Frame_Shift_Del_p.N480fs|SEC23A_uc010tqb.1_Frame_Shift_Del_p.N565fs	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA.	594					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GGACTATTGTTAAAAACTTGC	0.323													-	39514487	A	-	39514487	7	5	25	1	0	1	0	1	0	0	0	0	13991	359	13	0	538	0	SEC23A	14	39514487	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	3210393	39514487	67835053	905	23341											
FANCM	57697	broad.mit.edu	37	chr14	45605364	45605364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccaaggcgcctttgccaGcagcagcggaggctcagctg	14	14	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:45605364G>A	uc001wwd.3	+	1	229	c.130G>A	c.(130-132)GCA>ACA	p.A44T	FANCM_uc001wwc.2_Missense_Mutation_p.A44T|FANCM_uc010anf.2_Missense_Mutation_p.A44T|FKBP3_uc010tqf.1_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	44					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						GCCTTTGCCAGCAGCAGCGGA	0.622								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				A	45605364	G	A	45605364	3	1	25	1	0	0	0	0	1	0	0	0	5671	971	34	2	132	2	FANCM	14	45605364	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	6090877	45605364	61744176	906	23342											
MDGA2	161357	broad.mit.edu	37	chr14	47314993	47314993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgctaggtcttgttttgCacattctccttctgcaattg	8	9	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:47314993C>T	uc001wwj.3	-	16	2954	c.2758G>A	c.(2758-2760)GCA>ACA	p.A920T	MDGA2_uc001wwh.3_Missense_Mutation_p.A122T|MDGA2_uc001wwi.3_Missense_Mutation_p.A691T	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	920	MAM.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						TCTTGTTTTGCACATTCTCCT	0.313													T	47314993	C	T	47314993	3	4	25	1	0	0	0	0	1	0	0	0	9407	710	25	2	120	2	MDGA2	14	47314993	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1709629	47314993	60034547	907	23343											
POLE2	5427	broad.mit.edu	37	chr14	50122404	50122404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctaccagcaaacattatgcGaagtttttccaatacttcca	4	12	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:50122404G>A	uc001wwu.2	-	11	927	c.913C>T	c.(913-915)CGC>TGC	p.R305C	SDCCAG1_uc010anj.1_Intron|POLE2_uc010ann.2_Missense_Mutation_p.R20C|POLE2_uc001wwv.2_RNA|POLE2_uc010ano.2_Missense_Mutation_p.R20C	NM_002692	NP_002683	P56282	DPOE2_HUMAN	DNA-directed DNA polymerase epsilon 2	305					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			ovary(1)|skin(1)	2	all_epithelial(31;0.0021)|Breast(41;0.0124)					AACATTATGCGAAGTTTTTCC	0.313													A	50122404	G	A	50122404	3	1	25	1	0	0	0	0	1	0	0	0	12197	1058	37	1	706	1	POLE2	14	50122404	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2807411	50122404	57227136	908	23344											
PELI2	57161	broad.mit.edu	37	chr14	56757067	56757067	+	Frame_Shift_Del	DEL	G	G	-													tcctggtgatgcatccacgaGggggcttcaccgaggagtcc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:56757066_56757066AG>A	uc001xch.3	+	4	874	c.588_588AG>A	c.(586-588)cgafs	p.R196fs		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA.	196					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						TGCATCCACGAGGGGGCTTCA	0.587													-	56757067	G	-	56757067	7	5	25	1	0	1	0	1	0	0	0	0	11722	1000	35	0	607	0	PELI2	14	56757067	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	6634663	56757067	50592473	909	23345											
OTX2	5015	broad.mit.edu	37	chr14	57271048	57271048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctctcccggcgctgtttcCggggggtggctgcgggacaa	16	13	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:57271048C>T	uc001xcp.2	-	2	278	c.107G>A	c.(106-108)CGG>CAG	p.R36Q	OTX2_uc010aou.2_Missense_Mutation_p.R36Q|OTX2_uc001xcq.2_Missense_Mutation_p.R44Q	NM_172337	NP_758840	P32243	OTX2_HUMAN	orthodenticle homeobox 2 isoform b	36					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			ovary(1)	1	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GCGCTGTTTCCGGGGGGTGGC	0.632													T	57271048	C	T	57271048	3	4	25	1	0	0	0	0	1	0	0	0	11321	652	23	1	770	1	OTX2	14	57271048	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	513981	57271048	50078492	910	23346											
DACT1	51339	broad.mit.edu	37	chr14	59113480	59113480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcctgtgcctctgccctaCgccagcccctacgcctacgt	9	20	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:59113480C>T	uc001xdw.2	+	4	2303	c.2139C>T	c.(2137-2139)TAC>TAT	p.Y713Y	DACT1_uc010trv.1_Silent_p.Y432Y|DACT1_uc001xdx.2_Silent_p.Y676Y|DACT1_uc010trw.1_Silent_p.Y432Y	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	713					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						CTCTGCCCTACGCCAGCCCCT	0.672													T	59113480	C	T	59113480	2	4	25	1	0	0	0	0	0	0	0	1	4222	547	19	1		1	DACT1	14	59113480	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1842432	59113480	48236060	911	23347											
C14orf149	112849	broad.mit.edu	37	chr14	59950671	59950671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcccgcagggggcgccgGcacaagcccgaagtccaaag	16	14	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:59950671G>A	uc001xee.1	-	1	403	c.364C>T	c.(364-366)CCG>TCG	p.P122S	C14orf149_uc010trx.1_Missense_Mutation_p.P122S|JKAMP_uc001xef.3_5'Flank|JKAMP_uc001xeh.3_5'Flank|JKAMP_uc001xeg.3_5'Flank|JKAMP_uc010try.1_5'Flank|JKAMP_uc001xei.3_5'Flank	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	proline racemase-like	122							proline racemase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	GGGGGCGCCGGCACAAGCCCG	0.706											OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	59950671	G	A	59950671	3	1	25	1	0	0	0	0	1	0	0	0	1752	1203	42	2	720	2	C14orf149	14	59950671	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	837191	59950671	47398869	912	23348											
C14orf39	317761	broad.mit.edu	37	chr14	60923730	60923730	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaatataggaatttcagaCgttcgtggaaaattctcagc	8	6	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:60923730C>T	uc001xez.3	-	15	1373	c.1263G>A	c.(1261-1263)ACG>ACA	p.T421T	C14orf39_uc010apo.2_Silent_p.T132T	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	421										ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		GAATTTCAGACGTTCGTGGAA	0.378													T	60923730	C	T	60923730	2	4	25	1	0	0	0	0	0	0	0	1	1772	523	19	1		1	C14orf39	14	60923730	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	973059	60923730	46425810	913	23349											
TRMT5	57570	broad.mit.edu	37	chr14	61446364	61446364	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaagctgttctatcaagTtttgtcatgcctcggacatc	7	9	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:61446364T>A	uc001xff.3	-	2	343	c.252A>T	c.(250-252)AAA>AAT	p.K84N	SLC38A6_uc001xfg.1_5'Flank|SLC38A6_uc001xfh.1_5'Flank|SLC38A6_uc001xfi.2_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.2_5'Flank|SLC38A6_uc010trz.1_5'Flank	NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	84						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			central_nervous_system(2)|large_intestine(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TTCTATCAAGTTTTGTCATGC	0.393													A	61446364	T	A	61446364	3	1	25	1	0	0	0	0	1	0	0	0	16564	1722	60	5	1293	5	TRMT5	14	61446364	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	522634	61446364	45903176	914	23350											
PPP2R5E	5529	broad.mit.edu	37	chr14	63848863	63848863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaacacattgtacaccaaCgccacaatagccctggaaag	6	13	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:63848863C>T	uc001xgd.1	-	13	1805	c.1215G>A	c.(1213-1215)GCG>GCA	p.A405A	PPP2R5E_uc010tsf.1_Silent_p.A329A|PPP2R5E_uc010tsg.1_Silent_p.A329A|PPP2R5E_uc001xge.2_Silent_p.A405A|PPP2R5E_uc010tsh.1_Silent_p.A405A|PPP2R5E_uc001xgf.1_RNA	NM_006246	NP_006237	Q16537	2A5E_HUMAN	epsilon isoform of regulatory subunit B56,	405					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		TGTACACCAACGCCACAATAG	0.403													T	63848863	C	T	63848863	2	4	25	1	0	0	0	0	0	0	0	1	12396	523	19	1		1	PPP2R5E	14	63848863	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2402499	63848863	43500677	915	23351											
SYNE2	23224	broad.mit.edu	37	chr14	64564782	64564784	+	In_Frame_Del	DEL	AAG	AAG	-													ccagcatttgaagcaagaacAagaaggagtagaaagagata							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:64564781_64564783CAAG>C	uc001xgl.3	+	61	12453_12455	c.12223_12225CAAG>C	c.(12223-12225)caa>C	p.Q4075del	SYNE2_uc001xgm.3_In_Frame_Del_p.Q4075del|SYNE2_uc021ruh.1_In_Frame_Del_p.Q4108del|SYNE2_uc010apy.3_In_Frame_Del_p.Q460del|SYNE2_uc010apx.1_In_Frame_Del_p.Q467del|SYNE2_uc010apz.1_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4075					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAGCAAGAACAAGAAGGAGTAG	0.468													-	64564784	AAG	-	64564782	7	5	25	1	0	1	0	1	0	0	0	0	15443	130	5	0	12466	0	SYNE2	14	64564782	In_Frame_Del	DEL	AAG	TCGA-BR-4370-01A-01D-1158-08	715919	64564782	42784758	916	23352											
ZBTB25	7597	broad.mit.edu	37	chr14	64954669	64954669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgaatcccttcctccaaacGactatgatccacaatctgtt	4	14	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:64954669G>A	uc001xhf.2	-	3	463	c.280C>T	c.(280-282)CGT>TGT	p.R94C	ZBTB25_uc001xhc.2_Intron|ZBTB25_uc001xhg.2_Missense_Mutation_p.R94C	NM_006977	NP_008908	P24278	ZBT25_HUMAN	zinc finger protein 46	94	BTB.					cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		TCCTCCAAACGACTATGATCC	0.423													A	64954669	G	A	64954669	3	1	25	1	0	0	0	0	1	0	0	0	17529	1058	37	1	1031	1	ZBTB25	14	64954669	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	389887	64954669	42394871	917	23353											
HSPA2	3306	broad.mit.edu	37	chr14	65008770	65008770	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctactcgacgtgaccccGttgtcgctgggcatcgagac	12	14	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:65008770G>A	uc001xhj.2	+	2	1279	c.1203G>A	c.(1201-1203)CCG>CCA	p.P401P	HSPA2_uc001xhk.3_Silent_p.P401P	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	401					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)		ACGTGACCCCGTTGTCGCTGG	0.622													A	65008770	G	A	65008770	2	1	25	1	0	0	0	0	0	0	0	1	7411	1132	40	1		1	HSPA2	14	65008770	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	54101	65008770	42340770	918	23354											
VTI1B	10490	broad.mit.edu	37	chr14	68129194	68129194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttgttccttgttctcacCgtttcatttgcttcctgttg	6	10	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:68129194C>T	uc001xjt.2	-	2	570	c.174G>A	c.(172-174)ACG>ACA	p.T58T	VTI1B_uc010aqp.2_5'UTR|VTI1B_uc001xju.2_Intron	NM_006370	NP_006361	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with	58	Potential.|Cytoplasmic (Potential).				cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane					0				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		TTGTTCTCACCGTTTCATTTG	0.328													T	68129194	C	T	68129194	2	4	25	1	0	0	0	0	0	0	0	1	17233	666	23	1		1	VTI1B	14	68129194	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3120424	68129194	39220346	919	23355											
ACOT1	641371	broad.mit.edu	37	chr14	74009849	74009849	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagggcatcacggctgctgtCgtcatcaacggctctgtggc	13	12	4	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:74009849C>T	uc001xol.1	+	3	954	c.756C>T	c.(754-756)GTC>GTT	p.V252V	HEATR4_uc010tua.1_Intron|ACOT1_uc010tuc.1_Intron	NM_001037161	NP_001032238	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	252					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	cytosol	carboxylesterase activity|palmitoyl-CoA hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		CGGCTGCTGTCGTCATCAACG	0.567													T	74009849	C	T	74009849	2	4	25	1	0	0	0	0	0	0	0	1	148	871	31	1		1	ACOT1	14	74009849	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	5880655	74009849	33339691	920	23356											
FAM161B	145483	broad.mit.edu	37	chr14	74409118	74409118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagggccgctgagggtggCgcaggttggcggtcctcagc	18	12	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:74409118C>T	uc001xpd.1	-	4	1332	c.1226G>A	c.(1225-1227)CGC>CAC	p.R409H		NM_152445	NP_689658			hypothetical protein LOC145483											ovary(1)	1						CTGAGGGTGGCGCAGGTTGGC	0.617													T	74409118	C	T	74409118	3	4	25	1	0	0	0	0	1	0	0	0	5473	768	27	1	741	1	FAM161B	14	74409118	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	399269	74409118	32940422	921	23357											
ZC3H14	79882	broad.mit.edu	37	chr14	89075670	89075670	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttcacccaaattgtaaatAtgatgcaaagtgtactaaac	6	7	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:89075670A>G	uc001xww.2	+	14	2153	c.1928A>G	c.(1927-1929)TAT>TGT	p.Y643C	ZC3H14_uc010twd.1_Missense_Mutation_p.Y643C|ZC3H14_uc010twe.1_Missense_Mutation_p.Y638C|ZC3H14_uc001xwx.2_Missense_Mutation_p.Y487C|ZC3H14_uc010twf.1_Missense_Mutation_p.Y357C|ZC3H14_uc001xwy.2_Missense_Mutation_p.Y478C|ZC3H14_uc010twg.1_Missense_Mutation_p.Y332C|ZC3H14_uc001xxa.2_Missense_Mutation_p.Y188C|ZC3H14_uc001xxc.2_Missense_Mutation_p.Y187C|ZC3H14_uc001xxb.2_Missense_Mutation_p.Y214C	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14 isoform 1	643	C3H1-type 3.					cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			ovary(2)|skin(1)	3						AATTGTAAATATGATGCAAAG	0.353													G	89075670	A	G	89075670	3	3	25	1	0	0	0	0	1	0	0	0	17563	449	16	3	2371	3	ZC3H14	14	89075670	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	14666552	89075670	18273870	922	23358											
FOXN3	1112	broad.mit.edu	37	chr14	89878534	89878534	+	Frame_Shift_Del	DEL	G	G	-													tgtcagagtgggcaggggatGggggggtgtcatcgtccagg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:89878533_89878533TG>T	uc001xxo.4	-	1	425	c.288_288CA>A	c.(286-288)ccafs	p.P96fs	FOXN3_uc001xxn.4_Frame_Shift_Del_p.P96fs|FOXN3_uc010atk.3_Frame_Shift_Del_p.P96fs|FOXN3_uc001xxp.2_Frame_Shift_Del_p.P96fs	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	96					DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P96fs*42(2)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGCAGGGGATGGGGGGGTGT	0.587													-	89878534	G	-	89878534	7	5	25	1	0	1	0	1	0	0	0	0	6021	1348	47	0	1209	0	FOXN3	14	89878534	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	802864	89878534	17471006	923	23359											
KIAA1409	57578	broad.mit.edu	37	chr14	94088364	94088364	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgaggtgaaagttgactcGccggtaaagcctgctcctaa	11	10	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:94088364G>A	uc001ybv.1	+	28	4403	c.4320G>A	c.(4318-4320)TCG>TCA	p.S1440S	KIAA1409_uc001ybs.1_Silent_p.S1418S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1595						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		AAGTTGACTCGCCGGTAAAGC	0.478													A	94088364	G	A	94088364	2	1	25	1	0	0	0	0	0	0	0	1	8230	1074	38	1		1	KIAA1409	14	94088364	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	4209830	94088364	13261176	924	23360											
CLMN	79789	broad.mit.edu	37	chr14	95688092	95688092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accgaaaaatacgatgcgacGaggatttgtattcgtgcagc	11	8	0	0	rs146706338	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:95688092G>A	uc001yef.2	-	4	376	c.260C>T	c.(259-261)TCG>TTG	p.S87L		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	87	Actin-binding.|CH 1.					integral to membrane	actin binding				0				Epithelial(152;0.193)		ACGATGCGACGAGGATTTGTA	0.443													A	95688092	G	A	95688092	3	1	25	1	0	0	0	0	1	0	0	0	3542	1059	37	1	2788	1	CLMN	14	95688092	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1599728	95688092	11661448	925	23361											
PAPOLA	10914	broad.mit.edu	37	chr14	96986562	96986562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggaagaggaactgcagcGcaggtaaatagatattctat	12	5	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:96986562G>A	uc001yfq.2	+	2	389	c.179G>A	c.(178-180)CGC>CAC	p.R60H	PAPOLA_uc001yfo.2_Missense_Mutation_p.R60H|PAPOLA_uc001yfp.2_Missense_Mutation_p.R60H|PAPOLA_uc001yfr.2_Missense_Mutation_p.R60H|PAPOLA_uc010twv.1_Missense_Mutation_p.R60H|PAPOLA_uc010avp.2_5'UTR	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	60					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		GAACTGCAGCGCAGGTAAATA	0.383													A	96986562	G	A	96986562	3	1	25	1	0	0	0	0	1	0	0	0	11429	1087	38	1	185	1	PAPOLA	14	96986562	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1298470	96986562	10362978	926	23362											
WARS	7453	broad.mit.edu	37	chr14	100801346	100801346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgccttcttgagctcacCggtgagcatggctccgctgg	14	12	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:100801346C>T	uc001yhf.1	-	10	1366	c.1282G>A	c.(1282-1284)GGT>AGT	p.G428S	WARS_uc001yhe.1_Missense_Mutation_p.G234S|WARS_uc001yhg.1_Missense_Mutation_p.G428S|WARS_uc001yhh.1_Missense_Mutation_p.G428S|WARS_uc001yhi.1_Missense_Mutation_p.G387S|WARS_uc001yhj.1_Missense_Mutation_p.G387S|WARS_uc001yhk.1_Missense_Mutation_p.G387S|WARS_uc001yhl.1_Missense_Mutation_p.G428S	NM_173701	NP_776049	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase isoform a	428					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(1)	1		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TTGAGCTCACCGGTGAGCATG	0.597													T	100801346	C	T	100801346	3	4	25	1	0	0	0	0	1	0	0	0	17246	652	23	1	137	1	WARS	14	100801346	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3814784	100801346	6548194	927	23363											
DYNC1H1	1778	broad.mit.edu	37	chr14	102476416	102476416	+	Frame_Shift_Del	DEL	T	T	-													ttgccaacaaaatcgtcccgTtttttaagtaagtagcctag							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:102476415_102476415GT>G	uc001yks.2	+	29	6377	c.6213_6213GT>G	c.(6211-6213)ccgfs	p.P2071fs		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2071	AAA 1 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAATCGTCCCGTTTTTTAAGT	0.418													-	102476416	T	-	102476416	7	5	25	1	0	1	0	1	0	0	0	0	4841	1725	60	0	6332	0	DYNC1H1	14	102476416	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	1675070	102476416	4873124	928	23364											
PPP1R13B	23368	broad.mit.edu	37	chr14	104201496	104201496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccaaaaggaagttcaggCgagtgttcgctgtcggggtt	15	8	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:104201496C>T	uc001yof.1	-	17	3551	c.3268G>A	c.(3268-3270)GCC>ACC	p.A1090T	PPP1R13B_uc010awv.1_RNA	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	1090					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GAAGTTCAGGCGAGTGTTCGC	0.557													T	104201496	C	T	104201496	3	4	25	1	0	0	0	0	1	0	0	0	12357	768	27	1	8	1	PPP1R13B	14	104201496	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1725080	104201496	3148044	929	23365											
PPP1R13B	23368	broad.mit.edu	37	chr14	104206432	104206432	+	Frame_Shift_Del	DEL	G	G	-													gtggggctgtgggctgggcaGgggggagctcttccaggttt							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:104206431_104206431AG>A	uc001yof.1	-	11	2605	c.2322_2322CT>T	c.(2320-2322)cctfs	p.P774fs	PPP1R13B_uc010awv.1_Non-coding_Transcript|PPP1R13B_uc001yog.1_Frame_Shift_Del_p.P641fs	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	774	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TGGGCTGGGCAGGGGGGAGCT	0.597													-	104206432	G	-	104206432	7	5	25	1	0	1	0	1	0	0	0	0	12357	1000	35	0	975	0	PPP1R13B	14	104206432	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	4936	104206432	3143108	930	23366											
BRF1	2972	broad.mit.edu	37	chr14	105685344	105685344	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggcgcccaccttgtgttcCttgtagatgccgagctcctt	10	14	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:105685344C>A	uc001yqp.2	-	14	1869	c.1506G>T	c.(1504-1506)AAG>AAT	p.K502N	BRF1_uc010tyo.1_Missense_Mutation_p.K387N|BRF1_uc010typ.1_Missense_Mutation_p.K409N|BRF1_uc001yqk.2_Missense_Mutation_p.K28N|BRF1_uc001yql.2_Missense_Mutation_p.K298N|BRF1_uc001yqo.2_Missense_Mutation_p.K264N|BRF1_uc010axg.1_Missense_Mutation_p.K475N|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_Missense_Mutation_p.K28N	NM_001519	NP_001510	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1	502					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CCTTGTGTTCCTTGTAGATGC	0.577													A	105685344	C	A	105685344	3	1	25	1	0	0	0	0	1	0	0	0	1510	680	24	5	547	5	BRF1	14	105685344	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1478912	105685344	1664196	931	23367											
BRF1	2972	broad.mit.edu	37	chr14	105739058	105739058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctcaaaccaaaggatacGcggcgtgccctccgtacggc	11	15	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:105739058G>A	uc001yqp.2	-	3	802	c.439C>T	c.(439-441)CAC>TAC	p.H147Y	BRF1_uc010tyo.1_Missense_Mutation_p.H32Y|BRF1_uc010typ.1_Missense_Mutation_p.H32Y|BRF1_uc010axg.1_Missense_Mutation_p.H120Y|BRF1_uc001yqr.2_Missense_Mutation_p.H147Y	NM_001519	NP_001510	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1	147	1.				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CAAAGGATACGCGGCGTGCCC	0.587													A	105739058	G	A	105739058	3	1	25	1	0	0	0	0	1	0	0	0	1510	1101	38	1	1658	1	BRF1	14	105739058	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	53714	105739058	1610482	932	23368											
OR4N4	283694	broad.mit.edu	37	chr15	22382983	22382983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcttgcctttttgtggcCcaaaccagctggacaacttc	8	14	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:22382983C>T	uc001yuc.1	+	7	1492	c.511C>T	c.(511-513)CCA>TCA	p.P171S	LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.P171S	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	171	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTTTTGTGGCCCAAACCAGCT	0.522													T	22382983	C	T	22382983	3	4	25	1	0	0	0	0	1	0	0	0	11078	623	22	4	513	4	OR4N4	15	22382983	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08		22382983	80148409	933	23369											
GABRB3	2562	broad.mit.edu	37	chr15	26793063	26793063	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtattttaattttgagctgTgaagacctcctccgtagatg	10	7	0	4			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:26793063T>C	uc001zaz.2	-	9	1441	c.1299A>G	c.(1297-1299)TCA>TCG	p.S433S	GABRB3_uc010uae.1_Silent_p.S348S|GABRB3_uc001zba.2_Silent_p.S433S|GABRB3_uc001zbb.2_Silent_p.S489S	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	433	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTTTGAGCTGTGAAGACCTCC	0.473													C	26793063	T	C	26793063	2	2	25	1	0	0	0	0	0	0	0	1	6168	1683	59	3		3	GABRB3	15	26793063	Silent	SNP	T	TCGA-BR-4370-01A-01D-1158-08	4410080	26793063	75738329	934	23370											
GABRB3	2562	broad.mit.edu	37	chr15	26812789	26812789	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggacacccacgacagaatCgttatcagtatagagggcat	10	9	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:26812789C>T	uc001zaz.2	-	7	916	c.774G>A	c.(772-774)ACG>ACA	p.T258T	GABRB3_uc010uae.1_Silent_p.T173T|GABRB3_uc001zba.2_Silent_p.T258T|GABRB3_uc001zbb.2_Silent_p.T314T	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	258	Helical; (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACGACAGAATCGTTATCAGTA	0.408													T	26812789	C	T	26812789	2	4	25	1	0	0	0	0	0	0	0	1	6168	871	31	1		1	GABRB3	15	26812789	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	19726	26812789	75718603	935	23371											
HERC2	8924	broad.mit.edu	37	chr15	28474714	28474714	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttttaaaattgtatctatcCcttccaggcgaacctctgct	6	11	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:28474714C>A	uc001zbj.2	-	33	5118	c.5012G>T	c.(5011-5013)GGG>GTG	p.G1671V		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1671					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGTATCTATCCCTTCCAGGCG	0.393													A	28474714	C	A	28474714	3	1	25	1	0	0	0	0	1	0	0	0	7058	623	22	5	9736	5	HERC2	15	28474714	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1661925	28474714	74056678	936	23372											
HERC2	8924	broad.mit.edu	37	chr15	28510807	28510807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcatccccactcccacaCgccacatcgatgaccttcag	6	18	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:28510807C>T	uc001zbj.2	-	14	1933	c.1827G>A	c.(1825-1827)GCG>GCA	p.A609A	HERC2_uc001zbl.1_Silent_p.A304A	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	609	RCC1 2.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CACTCCCACACGCCACATCGA	0.587													T	28510807	C	T	28510807	2	4	25	1	0	0	0	0	0	0	0	1	7058	523	19	1		1	HERC2	15	28510807	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	36093	28510807	74020585	937	23373											
TRPM1	4308	broad.mit.edu	37	chr15	31329989	31329989	+	Frame_Shift_Del	DEL	T	T	-													ccgatgggaatacttctctgTtttttgtgctcgttctcctc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:31329988_31329988GT>G	uc021sia.1	-	18	2862	c.2548_2548AC>C	c.(2548-2550)cagfs	p.Q850fs	TRPM1_uc010azy.3_Frame_Shift_Del_p.Q718fs|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Frame_Shift_Del_p.Q833fs|TRPM1_uc001zfm.3_Frame_Shift_Del_p.Q811fs	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	811					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ATACTTCTCTGTTTTTTGTGC	0.468													-	31329989	T	-	31329989	7	5	25	1	0	1	0	1	0	0	0	0	16582	1722	60	0	2417	0	TRPM1	15	31329989	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	2819182	31329989	71201403	938	23374											
SCG5	6447	broad.mit.edu	37	chr15	32988792	32988792	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccccatttttcagatgaGgataaggatccagagtaaag	10	8	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:32988792G>A	uc001zha.2	+	6	738	c.621G>A	c.(619-621)GAG>GAA	p.E207E	SCG5_uc001zgz.2_Silent_p.E206E	NM_001144757	NP_001138229	P05408	7B2_HUMAN	secretogranin V isoform 1	207					intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion	extracellular region|stored secretory granule	enzyme inhibitor activity|GTP binding|unfolded protein binding				0		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		TTTCAGATGAGGATAAGGATC	0.418													A	32988792	G	A	32988792	2	1	25	1	0	0	0	0	0	0	0	1	13893	991	35	4		4	SCG5	15	32988792	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1658803	32988792	69542600	939	23375											
RYR3	6263	broad.mit.edu	37	chr15	34072445	34072445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggagaatgtctggcctcGctggcagctgccataccagt	12	12	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:34072445G>A	uc001zhi.2	+	65	9241	c.9171G>A	c.(9169-9171)TCG>TCA	p.S3057S	RYR3_uc010bar.2_Silent_p.S3057S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3057	Helical; Name=M''; (Potential).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTCTGGCCTCGCTGGCAGCTG	0.562													A	34072445	G	A	34072445	2	1	25	1	0	0	0	0	0	0	0	1	13770	1074	38	1		1	RYR3	15	34072445	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1083653	34072445	68458947	940	23376											
C15orf55	256646	broad.mit.edu	37	chr15	34647969	34647969	+	Frame_Shift_Del	DEL	C	C	-													ggatgggaacactctgccatCccccagcagctgggacctgc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:34647968_34647968TC>T	uc010ucc.2	+	7	2141	c.1759_1759TC>T	c.(1759-1761)tccfs	p.S587fs	C15orf55_uc010ucd.2_Frame_Shift_Del_p.S577fs|C15orf55_uc001zif.3_Frame_Shift_Del_p.S559fs	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	559						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CACTCTGCCATCCCCCAGCAG	0.582			T	"BRD3, BRD4"	lethal midline carcinoma								-	34647969	C	-	34647969	7	5	25	1	0	1	0	1	0	0	0	0	1803	855	30	0	1702	0	C15orf55	15	34647969	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	575524	34647969	67883423	941	23377											
C15orf52	388115	broad.mit.edu	37	chr15	40630070	40630070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgggggctcccccaccgGccggctccagggctcccaag	13	20	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:40630070G>A	uc001zlh.3	-	6	686	c.670C>T	c.(670-672)CCG>TCG	p.P224S	C15orf52_uc001zli.1_Missense_Mutation_p.P156S|C15orf52_uc010ucn.1_Missense_Mutation_p.P14S	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	hypothetical protein LOC388115	224										large_intestine(1)	1		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TCCCCCACCGGCCGGCTCCAG	0.677													A	40630070	G	A	40630070	3	1	25	1	0	0	0	0	1	0	0	0	1800	1203	42	2	958	2	C15orf52	15	40630070	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	5982101	40630070	61901322	942	23378											
DNAJC17	55192	broad.mit.edu	37	chr15	41066555	41066555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctcatgcagcactcaccGctgccttgacggttgcaaac	9	15	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:41066555G>A	uc001zms.1	-	9	691	c.680C>T	c.(679-681)GCG>GTG	p.A227V	DNAJC17_uc010bbz.1_RNA|DNAJC17_uc010bca.1_RNA|DNAJC17_uc010bcb.1_RNA	NM_018163	NP_060633	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	227	RRM.				protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding				0		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		AGCACTCACCGCTGCCTTGAC	0.587													A	41066555	G	A	41066555	3	1	25	1	0	0	0	0	1	0	0	0	4636	1101	38	1	246	1	DNAJC17	15	41066555	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	436485	41066555	61464837	943	23379											
DLL4	54567	broad.mit.edu	37	chr15	41227195	41227195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgactccccctgcttcaatGggggctcctgccgggagcgc	13	17	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:41227195G>A	uc001zng.1	+	8	1440	c.1120G>A	c.(1120-1122)GGG>AGG	p.G374R		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	delta-like 4 protein precursor	374	EGF-like 5.|Extracellular (Potential).				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(2)	2		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CTGCTTCAATGGGGGCTCCTG	0.612													A	41227195	G	A	41227195	3	1	25	1	0	0	0	0	1	0	0	0	4568	1348	47	4	1150	4	DLL4	15	41227195	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	160640	41227195	61304197	944	23380											
MGA	23269	broad.mit.edu	37	chr15	42042288	42042288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccagaggccaaagagaaGgaatgtggagactctctgga	14	8	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:42042288G>A	uc010ucy.1	+	17	6664	c.6483G>A	c.(6481-6483)AAG>AAA	p.K2161K	MGA_uc010ucz.1_Silent_p.K1952K|MGA_uc010uda.1_Silent_p.K777K|MGA_uc001zoi.2_Silent_p.K375K	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2122	Basic motif.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CCAAAGAGAAGGAATGTGGAG	0.428													A	42042288	G	A	42042288	2	1	25	1	0	0	0	0	0	0	0	1	9540	991	35	4		4	MGA	15	42042288	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	815093	42042288	60489104	945	23381											
MAPKBP1	23005	broad.mit.edu	37	chr15	42116010	42116010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctggcgaggcagaaaagCctggcttcccggtgggccta	14	14	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:42116010C>T	uc001zok.3	+	30	4268	c.3982C>T	c.(3982-3984)CCT>TCT	p.P1328S	MAPKBP1_uc001zoj.3_Missense_Mutation_p.P1322S|MAPKBP1_uc010bcj.2_Missense_Mutation_p.P829S|MAPKBP1_uc010bci.2_Intron|MAPKBP1_uc010udb.1_Missense_Mutation_p.P1161S|MAPKBP1_uc010bck.2_Missense_Mutation_p.P539S|MAPKBP1_uc010bcl.2_Missense_Mutation_p.P829S	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	1328										central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GGCAGAAAAGCCTGGCTTCCC	0.617													T	42116010	C	T	42116010	3	4	25	1	0	0	0	0	1	0	0	0	9292	739	26	2	4096	2	MAPKBP1	15	42116010	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	73722	42116010	60415382	946	23382											
SPTBN5	51332	broad.mit.edu	37	chr15	42160736	42160736	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggccactgctaggctcttGcgaactctcctccacctgca	9	17	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:42160736G>A	uc001zos.2	-	33	6145	c.5812C>T	c.(5812-5814)CAA>TAA	p.Q1938*	hsa-mir-4310|MI0015840_5'Flank	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1973	Spectrin 16.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTAGGCTCTTGCGAACTCTCC	0.701													A	42160736	G	A	42160736	4	1	25	1	0	0	0	0	0	1	0	0	15121	1328	46	2	5251	2	SPTBN5	15	42160736	Nonsense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	44726	42160736	60370656	947	23383											
GANC	2595	broad.mit.edu	37	chr15	42570682	42570682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catactccgtatctataggcGtcagaaacagtggctttcca	8	11	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:42570682G>A	uc001zpi.2	+	3	409	c.95G>A	c.(94-96)CGT>CAT	p.R32H	GANC_uc001zph.2_Missense_Mutation_p.R32H|GANC_uc001zpj.1_5'UTR|GANC_uc010ude.1_Missense_Mutation_p.R32H	NM_198141	NP_937784	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	32					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			central_nervous_system(2)	2		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		ATCTATAGGCGTCAGAAACAG	0.378													A	42570682	G	A	42570682	3	1	25	1	0	0	0	0	1	0	0	0	6234	1145	40	1	105	1	GANC	15	42570682	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	409946	42570682	59960710	948	23384											
ZFP106	64397	broad.mit.edu	37	chr15	42717097	42717097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcagtccattccgggcatCgcgtacactaattgtgcagt	11	11	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:42717097C>T	uc001zpw.2	-	13	5391	c.5056G>A	c.(5056-5058)GAT>AAT	p.D1686N	ZFP106_uc001zpu.2_Missense_Mutation_p.D784N|ZFP106_uc001zpv.2_Missense_Mutation_p.D871N|ZFP106_uc001zpx.2_Missense_Mutation_p.D914N	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	1686	WD 3.					nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TTCCGGGCATCGCGTACACTA	0.537													T	42717097	C	T	42717097	3	4	25	1	0	0	0	0	1	0	0	0	17634	884	31	1	623	1	ZFP106	15	42717097	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	146415	42717097	59814295	949	23385											
CDAN1	146059	broad.mit.edu	37	chr15	43023871	43023871	+	Frame_Shift_Del	DEL	G	G	-													ccttgacagcctgggaaggtGgggggtgggcagggcccccc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:43023870_43023870TG>T	uc001zql.3	-	10	1804	c.1687_1687CA>A	c.(1687-1689)accfs	p.T563fs	CDAN1_uc001zqj.3_5'Flank|CDAN1_uc001zqk.3_5'UTR	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	563						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CCTGGGAAGGTGGGGGGTGGG	0.607													-	43023871	G	-	43023871	7	5	25	1	0	1	0	1	0	0	0	0	3054	1335	47	0	2069	0	CDAN1	15	43023871	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	306774	43023871	59507521	950	23386											
DUOX2	50506	broad.mit.edu	37	chr15	45401073	45401073	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcctggctatagctgggcaGccccatatctcggccacgtt	12	14	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:45401073G>T	uc010bea.2	-	12	1515	c.1312C>A	c.(1312-1314)CTG>ATG	p.L438M	DUOX2_uc001zun.2_Missense_Mutation_p.L438M	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	438	Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TAGCTGGGCAGCCCCATATCT	0.557													T	45401073	G	T	45401073	3	4	25	1	0	0	0	0	1	0	0	0	4801	962	34	5	3426	5	DUOX2	15	45401073	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2377202	45401073	57130319	951	23387											
WDR72	256764	broad.mit.edu	37	chr15	53992122	53992122	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtcaccgcacacacagcaAattatctgctcaccccttag	6	15	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:53992122A>G	uc002acj.2	-	13	1632	c.1590T>C	c.(1588-1590)ATT>ATC	p.I530I	WDR72_uc010bfi.1_Silent_p.I530I	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	530	WD 7.									lung(1)|skin(1)	2				all cancers(107;0.0511)		ACACACAGCAAATTATCTGCT	0.433													G	53992122	A	G	53992122	2	3	25	1	0	0	0	0	0	0	0	1	17319	10	1	3		3	WDR72	15	53992122	Silent	SNP	A	TCGA-BR-4370-01A-01D-1158-08	8591049	53992122	48539270	952	23388											
PIGB	9488	broad.mit.edu	37	chr15	55621922	55621923	+	Splice_Site	INS	-	-	T													gctctgtactttttcttagtINSttttttgccagttgtgctcc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:55621921_55621922G>GT	uc002act.3	+	5	839	c.523_splice	c.e5-1	p.F175_splice	PIGB_uc010ugg.2_Splice_Site	NM_004855	NP_004846	Q92521	PIGB_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA.	175					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTTTTTCTTAGTTTTTTTGCCA	0.342													T	55621923	-	T	55621922	8	5	25	1	0	1	1	0	0	0	1	0	11885	1739	60	0	541	0	PIGB	15	55621922	Splice_Site	INS	-	TCGA-BR-4370-01A-01D-1158-08	1629800	55621922	46909470	953	23389											
ZNF280D	54816	broad.mit.edu	37	chr15	56974620	56974620	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgtttttatttactgtacttGaaaattctgttttagccagt	6	5	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:56974620G>C	uc002adu.2	-	10	1053	c.836C>G	c.(835-837)TCA>TGA	p.S279*	ZNF280D_uc002adv.2_Nonsense_Mutation_p.S266*|ZNF280D_uc010bfq.2_Nonsense_Mutation_p.S279*|ZNF280D_uc002adw.1_Nonsense_Mutation_p.S307*|ZNF280D_uc010bfr.1_RNA|ZNF280D_uc010bfp.2_RNA	NM_017661	NP_060131	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TACTGTACTTGAAAATTCTGT	0.284													C	56974620	G	C	56974620	4	2	25	1	0	0	0	0	0	1	0	0	17814	1294	45	5	2155	5	ZNF280D	15	56974620	Nonsense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1352698	56974620	45556772	954	23390											
GCOM1	145781	broad.mit.edu	37	chr15	57918078	57918078	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagccttggcatcagattcCattggcctgcaagtactcat	8	12	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:57918078C>A	uc002aei.2	+	5	632	c.513C>A	c.(511-513)TCC>TCA	p.S171S	GCOM1_uc002aej.2_Silent_p.S171S|GCOM1_uc002aek.2_RNA|GCOM1_uc002ael.2_Intron|GCOM1_uc002aem.2_Silent_p.S171S|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_RNA|GCOM1_uc002aeo.2_Silent_p.S171S|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_RNA	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	GRINL1A upstream protein isoform 7	171					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				ovary(1)	1						CATCAGATTCCATTGGCCTGC	0.478													A	57918078	C	A	57918078	2	1	25	1	0	0	0	0	0	0	0	1	6304	581	21	5		5	GCOM1	15	57918078	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	943458	57918078	44613314	955	23391											
ALDH1A2	8854	broad.mit.edu	37	chr15	58287308	58287308	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccacacactccaatgggttCatgtcttgtaaaggtaaaat	7	9	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:58287308C>T	uc002aex.2	-	5	581	c.523G>A	c.(523-525)GAA>AAA	p.E175K	ALDH1A2_uc002aey.2_Missense_Mutation_p.E175K|ALDH1A2_uc010ugv.1_Missense_Mutation_p.E154K|ALDH1A2_uc010ugw.1_Missense_Mutation_p.E146K|ALDH1A2_uc002aew.2_Missense_Mutation_p.E79K	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	175					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CCAATGGGTTCATGTCTTGTA	0.383													T	58287308	C	T	58287308	3	4	25	1	0	0	0	0	1	0	0	0	491	835	29	4	1069	4	ALDH1A2	15	58287308	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	369230	58287308	44244084	956	23392											
ALDH1A2	8854	broad.mit.edu	37	chr15	58357786	58357786	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggcaggaggtgcagcgaCgccatgagggcggcggggtc	21	10	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:58357786C>T	uc002aex.2	-	1	121	c.63G>A	c.(61-63)GCG>GCA	p.A21A	ALDH1A2_uc002aey.2_Silent_p.A21A|ALDH1A2_uc010ugv.1_5'UTR|ALDH1A2_uc010ugw.1_Intron	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	21					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GGTGCAGCGACGCCATGAGGG	0.667													T	58357786	C	T	58357786	2	4	25	1	0	0	0	0	0	0	0	1	491	523	19	1		1	ALDH1A2	15	58357786	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	70478	58357786	44173606	957	23393											
HERC1	8925	broad.mit.edu	37	chr15	63966684	63966684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctcgcttcaccatgtgtCgcatcaagaactgcagggct	10	13	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:63966684C>T	uc002amp.2	-	38	7851	c.7703G>A	c.(7702-7704)CGA>CAA	p.R2568Q		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2568					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						CACCATGTGTCGCATCAAGAA	0.488													T	63966684	C	T	63966684	3	4	25	1	0	0	0	0	1	0	0	0	7057	884	31	1	7046	1	HERC1	15	63966684	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	5608898	63966684	38564708	958	23394											
STRA6	64220	broad.mit.edu	37	chr15	74473191	74473191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggtaggaggctctgcGcttgcaggagcagggagcag	18	9	1	0	rs140894233		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:74473191G>A	uc002axk.2	-	18	1954	c.1772C>T	c.(1771-1773)GCG>GTG	p.A591V	STRA6_uc002axi.2_Missense_Mutation_p.A400V|STRA6_uc010ulh.1_Missense_Mutation_p.A629V|STRA6_uc002axj.2_Missense_Mutation_p.A630V|STRA6_uc010bji.2_Missense_Mutation_p.A591V|STRA6_uc002axl.2_Missense_Mutation_p.A523V|STRA6_uc002axm.2_Missense_Mutation_p.A591V|STRA6_uc002axn.2_Missense_Mutation_p.A582V|STRA6_uc010uli.1_Missense_Mutation_p.A628V	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid gene 6 homolog	591	Cytoplasmic (Potential).				adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			central_nervous_system(1)	1						GAGGCTCTGCGCTTGCAGGAG	0.607													A	74473191	G	A	74473191	3	1	25	1	0	0	0	0	1	0	0	0	15321	1087	38	1	239	1	STRA6	15	74473191	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	10506507	74473191	28058201	959	23395											
CLK3	1198	broad.mit.edu	37	chr15	74912421	74912421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacataccggtgtgaagagcGgagcccatcctttggagagg	14	9	0	3	rs146329671		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:74912421G>A	uc010uln.1	+	3	1129	c.668G>A	c.(667-669)CGG>CAG	p.R223Q	CLK3_uc002ayg.3_Missense_Mutation_p.R75Q|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Missense_Mutation_p.R223Q|CLK3_uc002ayj.3_Missense_Mutation_p.R75Q|CLK3_uc002ayk.3_5'UTR	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	223	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						TGTGAAGAGCGGAGCCCATCC	0.632													A	74912421	G	A	74912421	3	1	25	1	0	0	0	0	1	0	0	0	3538	1116	39	1	678	1	CLK3	15	74912421	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	439230	74912421	27618971	960	23396											
MAN2C1	4123	broad.mit.edu	37	chr15	75649170	75649170	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcctcgcactgacgcgCcatacttgcagtcgttgagc	11	14	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:75649170C>G	uc002baf.2	-	22	2638	c.2621G>C	c.(2620-2622)GGC>GCC	p.G874A	MAN2C1_uc002bag.2_Missense_Mutation_p.G874A|MAN2C1_uc002bah.2_Missense_Mutation_p.G891A|MAN2C1_uc010bkk.2_Missense_Mutation_p.G775A	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	874					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						CACTGACGCGCCATACTTGCA	0.607													G	75649170	C	G	75649170	3	3	25	1	0	0	0	0	1	0	0	0	9218	739	26	5	521	5	MAN2C1	15	75649170	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	736749	75649170	26882222	961	23397											
CSPG4	1464	broad.mit.edu	37	chr15	75980305	75980305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtctgtagtcagcagccgcCgcccaccccgggccacatgg	12	18	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:75980305C>T	uc002baw.2	-	3	3194	c.3101G>A	c.(3100-3102)CGG>CAG	p.R1034Q		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1034	Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|CSPG 6.|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						CAGCAGCCGCCGCCCACCCCG	0.642													T	75980305	C	T	75980305	3	4	25	1	0	0	0	0	1	0	0	0	3960	652	23	1	3899	1	CSPG4	15	75980305	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	331135	75980305	26551087	962	23398											
CSPG4	1464	broad.mit.edu	37	chr15	75980366	75980366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggggcgtggtcattcaCgggctggatggccactcgga	16	11	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:75980366C>T	uc002baw.2	-	3	3133	c.3040G>A	c.(3040-3042)GTG>ATG	p.V1014M		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1014	Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						TGGTCATTCACGGGCTGGATG	0.627													T	75980366	C	T	75980366	3	4	25	1	0	0	0	0	1	0	0	0	3960	536	19	1	3960	1	CSPG4	15	75980366	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	61	75980366	26551026	963	23399											
FBXO22	26263	broad.mit.edu	37	chr15	76225165	76225165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgcagcgcctcaaagcgGccaacattccagagcataac	9	14	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:76225165G>A	uc002bbk.2	+	7	1039	c.934G>A	c.(934-936)GCC>ACC	p.A312T	FBXO22_uc002bbl.2_Missense_Mutation_p.A208T|FBXO22OS_uc002bbm.1_RNA	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	F-box only protein 22 isoform a	312					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity				0						CCTCAAAGCGGCCAACATTCC	0.522													A	76225165	G	A	76225165	3	1	25	1	0	0	0	0	1	0	0	0	5734	1203	42	2	997	2	FBXO22	15	76225165	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	244799	76225165	26306227	964	23400											
C15orf27	123591	broad.mit.edu	37	chr15	76430103	76430103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatctcccaacaagtagacGaagaaaccaagagcattgct	7	11	2	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:76430103G>A	uc002bbq.2	+	3	249	c.94G>A	c.(94-96)GAA>AAA	p.E32K	C15orf27_uc010bkp.2_5'UTR|C15orf27_uc002bbr.2_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	hypothetical protein LOC123591	32						integral to membrane					0						ACAAGTAGACGAAGAAACCAA	0.532													A	76430103	G	A	76430103	3	1	25	1	0	0	0	0	1	0	0	0	1788	1059	37	1	100	1	C15orf27	15	76430103	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	204938	76430103	26101289	965	23401											
ISL2	64843	broad.mit.edu	37	chr15	76632885	76632885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcagctgcagcagcagcaGcacagcgacaagacggtgag	14	11	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:76632885G>A	uc002bbw.1	+	4	858	c.780G>A	c.(778-780)CAG>CAA	p.Q260Q		NM_145805	NP_665804	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	260						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGCAGCAGCAGCACAGCGACA	0.647													A	76632885	G	A	76632885	2	1	25	1	0	0	0	0	0	0	0	1	7857	962	34	2		2	ISL2	15	76632885	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	202782	76632885	25898507	966	23402											
TBC1D2B	23102	broad.mit.edu	37	chr15	78295700	78295700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaaagaggatgtcactaaCgacactatccacaaatacca	5	10	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:78295700C>T	uc002bcy.3	-	11	2521	c.2521G>A	c.(2521-2523)GTT>ATT	p.V841I	TBC1D2B_uc010bla.2_Missense_Mutation_p.V841I|TBC1D2B_uc002bda.2_Missense_Mutation_p.V293I	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B isoform a	841	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)|large_intestine(1)|breast(1)	3						ATGTCACTAACGACACTATCC	0.423													T	78295700	C	T	78295700	3	4	25	1	0	0	0	0	1	0	0	0	15616	536	19	1	382	1	TBC1D2B	15	78295700	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1662815	78295700	24235692	967	23403											
TMED3	23423	broad.mit.edu	37	chr15	79603625	79603625	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgcgctccgcctccgtgCtgcttctgctgctgctcctg	10	19	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:79603625C>T	uc002beu.2	+	1	135	c.34C>T	c.(34-36)CTG>TTG	p.L12L	TMED3_uc010unj.1_Silent_p.L12L|TMED3_uc002bev.2_RNA	NM_007364	NP_031390	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 domain containing 3	12					protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane				ovary(1)|skin(1)	2						CGCCTCCGTGCTGCTTCTGCT	0.736													T	79603625	C	T	79603625	2	4	25	1	0	0	0	0	0	0	0	1	16002	796	28	2		2	TMED3	15	79603625	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1307925	79603625	22927767	968	23404											
KIAA1024	23251	broad.mit.edu	37	chr15	79748713	79748713	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaatgcactgtgaataAccagcaatcaaagaaaatca	7	7	2	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:79748713A>G	uc002bew.1	+	2	299	c.224A>G	c.(223-225)AAC>AGC	p.N75S	KIAA1024_uc010unk.1_Missense_Mutation_p.N75S	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	75						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						ACTGTGAATAACCAGCAATCA	0.473													G	79748713	A	G	79748713	3	3	25	1	0	0	0	0	1	0	0	0	8205	43	2	3	226	3	KIAA1024	15	79748713	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	145088	79748713	22782679	969	23405											
FAM108C1	58489	broad.mit.edu	37	chr15	81046586	81046586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccatggcctagcgatgtacGagcgctgtccccgagccgtg	13	15	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:81046586G>A	uc002bfu.2	+	3	984	c.865G>A	c.(865-867)GAG>AAG	p.E289K	FAM108C1_uc002bft.2_Missense_Mutation_p.E248K	NM_021214	NP_067037	Q6PCB6	F108C_HUMAN	hypothetical protein LOC58489	289							hydrolase activity				0						AGCGATGTACGAGCGCTGTCC	0.483													A	81046586	G	A	81046586	3	1	25	1	0	0	0	0	1	0	0	0	5393	1059	37	1	875	1	FAM108C1	15	81046586	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1297873	81046586	21484806	970	23406											
EFTUD1	79631	broad.mit.edu	37	chr15	82443816	82443816	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttccttaccgagaacatcAccagtggccatgatgtcaca	7	13	3	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:82443816A>G	uc002bgt.1	-	18	3148	c.2979T>C	c.(2977-2979)GGT>GGC	p.G993G	EFTUD1_uc002bgs.1_Silent_p.G364G|EFTUD1_uc002bgu.1_Silent_p.G942G	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	993					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			ovary(1)	1						CGAGAACATCACCAGTGGCCA	0.408													G	82443816	A	G	82443816	2	3	25	1	0	0	0	0	0	0	0	1	4960	146	6	3		3	EFTUD1	15	82443816	Silent	SNP	A	TCGA-BR-4370-01A-01D-1158-08	1397230	82443816	20087576	971	23407											
AKAP13	11214	broad.mit.edu	37	chr15	86286871	86286871	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaggaacagcatctctcGgacacacaaagataaggggc	10	9	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:86286871G>T	uc002blv.1	+	36	8377	c.8207G>T	c.(8206-8208)CGG>CTG	p.R2736L	AKAP13_uc002blu.1_Missense_Mutation_p.R2740L|AKAP13_uc002blw.1_Missense_Mutation_p.R1201L|AKAP13_uc002blx.1_Missense_Mutation_p.R981L	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2736	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						AGCATCTCTCGGACACACAAA	0.542													T	86286871	G	T	86286871	3	4	25	1	0	0	0	0	1	0	0	0	449	1116	39	5	8415	5	AKAP13	15	86286871	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3843055	86286871	16244521	972	23408											
DET1	55070	broad.mit.edu	37	chr15	89074383	89074383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatagtcttctagaggggacCgtgggttgggggtcactgat	16	6	3	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:89074383C>T	uc002bmr.2	-	2	706	c.554G>A	c.(553-555)CGG>CAG	p.R185Q	DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Missense_Mutation_p.R196Q	NM_001144074	NP_001137546	Q7L5Y6	DET1_HUMAN	de-etiolated 1 isoform 2	185						nucleus				lung(1)|pancreas(1)	2	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TAGAGGGGACCGTGGGTTGGG	0.527													T	89074383	C	T	89074383	3	4	25	1	0	0	0	0	1	0	0	0	4450	652	23	1	1114	1	DET1	15	89074383	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2787512	89074383	13457009	973	23409											
ZNF710	374655	broad.mit.edu	37	chr15	90611774	90611774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcgtgtgcactgaatgcGgcatggagttcagccagatt	12	10	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:90611774G>A	uc002bov.1	+	2	1528	c.1405G>A	c.(1405-1407)GGC>AGC	p.G469S		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	469	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			CACTGAATGCGGCATGGAGTT	0.602													A	90611774	G	A	90611774	3	1	25	1	0	0	0	0	1	0	0	0	18112	1116	39	1	1407	1	ZNF710	15	90611774	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1537391	90611774	11919618	974	23410											
SLCO3A1	28232	broad.mit.edu	37	chr15	92459652	92459652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggcgtctcctacatcgacGaccacgtgcggaggaaggac	14	12	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:92459652G>A	uc002bqx.2	+	2	811	c.610G>A	c.(610-612)GAC>AAC	p.D204N	SLCO3A1_uc002bqy.2_Missense_Mutation_p.D204N|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Missense_Mutation_p.D146N	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	204	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			skin(1)	1	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CTACATCGACGACCACGTGCG	0.587													A	92459652	G	A	92459652	3	1	25	1	0	0	0	0	1	0	0	0	14728	1058	37	1	616	1	SLCO3A1	15	92459652	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1847878	92459652	10071740	975	23411											
PDIA2	64714	broad.mit.edu	37	chr16	334505	334505	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggatgggcccgcgcagcgCgagctggctgaggagtttgg	20	9	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:334505C>T	uc002cgn.1	+	7	1426	c.318C>T	c.(316-318)CGC>CGT	p.R106R	PDIA2_uc010bqt.1_5'UTR|PDIA2_uc002cgo.1_Silent_p.R106R	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	106	Thioredoxin 1.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)|skin(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CCGCGCAGCGCGAGCTGGCTG	0.662													T	334505	C	T	334505	2	4	25	1	0	0	0	0	0	0	0	1	11668	755	27	1		1	PDIA2	16	334505	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08		334505	90020248	976	23412											
DECR2	26063	broad.mit.edu	37	chr16	461481	461481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctctggcttcctacgtgaCgggggccgtgctggtggccg	16	14	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:461481C>T	uc002chb.2	+	8	888	c.782C>T	c.(781-783)ACG>ATG	p.T261M	DECR2_uc002chc.2_Missense_Mutation_p.T177M|DECR2_uc010bqv.2_Missense_Mutation_p.T177M|DECR2_uc002chd.2_Missense_Mutation_p.T177M|DECR2_uc002che.1_RNA	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2	261						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding				0		Hepatocellular(16;0.00015)				TCCTACGTGACGGGGGCCGTG	0.632													T	461481	C	T	461481	3	4	25	1	0	0	0	0	1	0	0	0	4383	536	19	1	812	1	DECR2	16	461481	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	126976	461481	89893272	977	23413											
STUB1	10273	broad.mit.edu	37	chr16	731592	731592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctccaggctcattgccgcGgagcgtgagaggtgggaccc	15	13	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:731592G>A	uc002cit.2	+	3	924	c.513G>A	c.(511-513)GCG>GCA	p.A171A	STUB1_uc002ciu.2_Silent_p.A99A|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1	171					cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity				0		Hepatocellular(780;0.00335)				TCATTGCCGCGGAGCGTGAGA	0.587													A	731592	G	A	731592	2	1	25	1	0	0	0	0	0	0	0	1	15334	1103	39	1		1	STUB1	16	731592	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	270111	731592	89623161	978	23414											
WDR24	84219	broad.mit.edu	37	chr16	735692	735692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcacggtgcgcgtgttcCggatccagcaggtacagctc	12	14	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:735692C>T	uc002ciz.1	-	6	2425	c.1665G>A	c.(1663-1665)CCG>CCA	p.P555P	JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002cix.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	685										ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)				GCGCGTGTTCCGGATCCAGCA	0.657													T	735692	C	T	735692	2	4	25	1	0	0	0	0	0	0	0	1	17278	639	23	1		1	WDR24	16	735692	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	4100	735692	89619061	979	23415											
CHTF18	63922	broad.mit.edu	37	chr16	840569	840569	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcccagcccttgggggcccCtgaggaggagccgactgacg	16	14	0	2	rs150535361	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:840569C>A	uc002cke.3	+	7	860	c.797C>A	c.(796-798)CCT>CAT	p.P266H	RPUSD1_uc002cka.2_5'Flank|RPUSD1_uc002ckb.2_5'Flank|RPUSD1_uc002ckc.2_5'Flank|RPUSD1_uc002ckd.2_5'Flank|CHTF18_uc010uus.1_Silent_p.P271P|CHTF18_uc010bre.1_RNA|CHTF18_uc002ckf.3_Missense_Mutation_p.P294H|CHTF18_uc010brf.2_Translation_Start_Site|CHTF18_uc002ckg.3_Translation_Start_Site	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	266					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	p.P266L(1)		kidney(1)	1		Hepatocellular(780;0.00335)				TTGGGGGCCCCTGAGGAGGAG	0.642													A	840569	C	A	840569	3	1	25	1	0	0	0	0	1	0	0	0	3414	681	24	5	823	5	CHTF18	16	840569	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	104877	840569	89514184	980	23416											
CRAMP1L	57585	broad.mit.edu	37	chr16	1706239	1706239	+	Frame_Shift_Del	DEL	C	C	-													agagagttcccccgaaagcgCccccggggagggggctgccc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:1706238_1706238GC>G	uc010uvh.2	+	8	1480	c.1480_1480GC>G	c.(1480-1482)gccfs	p.A494fs	CRAMP1L_uc002cmf.3_Intron	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	494						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CCCCGAAAGCGCCCCCGGGGA	0.697													-	1706239	C	-	1706239	7	5	25	1	0	1	0	1	0	0	0	0	3846	739	26	0	1515	0	CRAMP1L	16	1706239	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	865670	1706239	88648514	981	23417											
TBL3	10607	broad.mit.edu	37	chr16	2025196	2025196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctccttcagctccggccGtgacaagatatgtatcatct	8	12	3	2	rs147036287		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:2025196G>A	uc002cnu.1	+	8	746	c.644G>A	c.(643-645)CGT>CAT	p.R215H	TBL3_uc002cnv.1_Missense_Mutation_p.R101H|TBL3_uc010bsb.1_Intron|TBL3_uc010bsc.1_Missense_Mutation_p.R101H|TBL3_uc010uvt.1_Translation_Start_Site|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	215	WD 4.				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						AGCTCCGGCCGTGACAAGATA	0.607													A	2025196	G	A	2025196	3	1	25	1	0	0	0	0	1	0	0	0	15640	1145	40	1	674	1	TBL3	16	2025196	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	318957	2025196	88329557	982	23418											
TBC1D24	57465	broad.mit.edu	37	chr16	2546755	2546755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctgatggtggccgtgtcGgaggatgtcctgcaggtcta	16	8	1	1	rs61731478		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:2546755G>A	uc002cql.2	+	2	746	c.606G>A	c.(604-606)TCG>TCA	p.S202S	TBC1D24_uc002cqk.2_Silent_p.S202S|TBC1D24_uc002cqm.2_Silent_p.S202S|TBC1D24_uc010bsm.2_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	202	Rab-GAP TBC.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity				0						TGGCCGTGTCGGAGGATGTCC	0.617													A	2546755	G	A	2546755	2	1	25	1	0	0	0	0	0	0	0	1	15611	1103	39	1		1	TBC1D24	16	2546755	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	521559	2546755	87807998	983	23419											
SRRM2	23524	broad.mit.edu	37	chr16	2809396	2809396	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaatctaaggacaaaaagCgaaagcggtgagtgaatttg	12	4	1	2	rs138293757		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:2809396C>T	uc002crk.2	+	8	1282	c.733C>T	c.(733-735)CGA>TGA	p.R245*	SRRM2_uc002crj.1_Nonsense_Mutation_p.R149*|SRRM2_uc002crl.1_Nonsense_Mutation_p.R245*|SRRM2_uc010bsu.1_Nonsense_Mutation_p.R149*	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	245	Sufficient for RNA-binding.|Lys-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GGACAAAAAGCGAAAGCGGTG	0.408													T	2809396	C	T	2809396	4	4	25	1	0	0	0	0	0	1	0	0	15168	760	27	1	759	1	SRRM2	16	2809396	Nonsense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	262641	2809396	87545357	984	23420											
PAQR4	124222	broad.mit.edu	37	chr16	3021597	3021597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgggctacactgtgttgtCgggtgtggccggctggcgtg	20	8	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:3021597C>T	uc002csj.3	+	3	804	c.470C>T	c.(469-471)TCG>TTG	p.S157L	PAQR4_uc002csk.3_Missense_Mutation_p.S118L|PAQR4_uc002csl.3_Missense_Mutation_p.S83L|PAQR4_uc010uwm.1_Missense_Mutation_p.S88L	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	157	Helical; (Potential).					integral to membrane	receptor activity				0						ACTGTGTTGTCGGGTGTGGCC	0.687													T	3021597	C	T	3021597	3	4	25	1	0	0	0	0	1	0	0	0	11437	893	31	1	480	1	PAQR4	16	3021597	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	212201	3021597	87333156	985	23421											
ZSCAN10	84891	broad.mit.edu	37	chr16	3139113	3139113	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtacagcgtctcgcgggcGtgggtgcgcaggtggcgcag	19	10	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:3139113G>A	uc002ctv.1	-	5	2245	c.2157C>T	c.(2155-2157)CAC>CAT	p.H719H	ZSCAN10_uc002cty.1_Silent_p.H380H|ZSCAN10_uc002ctw.1_Silent_p.H637H|ZSCAN10_uc002ctx.1_Silent_p.H647H	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	719	C2H2-type 14.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						TCTCGCGGGCGTGGGTGCGCA	0.711													A	3139113	G	A	3139113	2	1	25	1	0	0	0	0	0	0	0	1	18224	1136	40	1		1	ZSCAN10	16	3139113	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	117516	3139113	87215640	986	23422											
ZNF263	10127	broad.mit.edu	37	chr16	3339480	3339480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgcttcctgaccaggcccGaggggaggtgccctggagtc	16	13	0	1	rs79713839	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:3339480G>A	uc002cuq.2	+	6	1306	c.974G>A	c.(973-975)CGA>CAA	p.R325Q	ZNF263_uc010uww.1_5'UTR|ZNF263_uc002cur.2_5'UTR	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	325					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(3)|ovary(1)	4						GACCAGGCCCGAGGGGAGGTG	0.597													A	3339480	G	A	3339480	3	1	25	1	0	0	0	0	1	0	0	0	17800	1058	37	1	996	1	ZNF263	16	3339480	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	200367	3339480	87015273	987	23423											
HMOX2	3163	broad.mit.edu	37	chr16	4555534	4555534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccagcagcaatgtcagcGgaagtggaaacctcagaggg	13	11	2	1	rs143511999	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:4555534G>A	uc010bts.2	+	2	180	c.9G>A	c.(7-9)GCG>GCA	p.A3A	HMOX2_uc002cwr.3_Silent_p.A3A|HMOX2_uc002cwq.3_Silent_p.A3A|HMOX2_uc002cws.3_Silent_p.A57A|HMOX2_uc010btt.2_Silent_p.A3A|HMOX2_uc002cwt.2_Silent_p.A3A	NM_001127206	NP_001120678	P30519	HMOX2_HUMAN	heme oxygenase (decyclizing) 2	3					cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding				0					NADH(DB00157)	CAATGTCAGCGGAAGTGGAAA	0.567													A	4555534	G	A	4555534	2	1	25	1	0	0	0	0	0	0	0	1	7244	1103	39	1		1	HMOX2	16	4555534	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1216054	4555534	85799219	988	23424											
GLYR1	84656	broad.mit.edu	37	chr16	4861191	4861191	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatttgctgcagctgccaTgggagtcggatggttgaccg	14	10	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:4861191T>C	uc002cxx.3	-	15	1604	c.1567A>G	c.(1567-1569)ATG>GTG	p.M523V	GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Missense_Mutation_p.M437V|GLYR1_uc002cya.2_Missense_Mutation_p.M517V|GLYR1_uc010uxv.1_Missense_Mutation_p.M442V	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	523					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0						GCAGCTGCCATGGGAGTCGGA	0.418													C	4861191	T	C	4861191	3	2	25	1	0	0	0	0	1	0	0	0	6483	1464	51	3	102	3	GLYR1	16	4861191	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	305657	4861191	85493562	989	23425											
MYH11	4629	broad.mit.edu	37	chr16	15797971	15797971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggaacgaaagaggtctcGtttcctcgcctgtgggttgt	14	8	1	1	rs149529195	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:15797971G>A	uc002ddy.2	-	41	5903	c.5796C>T	c.(5794-5796)AAC>AAT	p.N1932N	MYH11_uc002ddv.2_3'UTR|MYH11_uc002ddw.2_3'UTR|MYH11_uc002ddx.2_Silent_p.N1939N|MYH11_uc010bvg.2_3'UTR|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1932	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						AAGAGGTCTCGTTTCCTCGCC	0.393			T	CBFB	AML								A	15797971	G	A	15797971	2	1	25	1	0	0	0	0	0	0	0	1	10031	1136	40	1		1	MYH11	16	15797971	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	10936780	15797971	74556782	990	23426											
ABCC6	368	broad.mit.edu	37	chr16	16263538	16263538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcccgaagatcccgccaCgcagggctgcctgcgtctgc	14	16	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:16263538C>T	uc002den.3	-	22	2997	c.2960G>A	c.(2959-2961)CGT>CAT	p.R987H	ABCC6_uc010bvo.2_RNA	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	987	ABC transmembrane type-1 2.|Extracellular (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GATCCCGCCACGCAGGGCTGC	0.667													T	16263538	C	T	16263538	3	4	25	1	0	0	0	0	1	0	0	0	57	536	19	1	1591	1	ABCC6	16	16263538	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	465567	16263538	74091215	991	23427											
UMOD	7369	broad.mit.edu	37	chr16	20357449	20357449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccactggccaggacgtaccGtcaacactgtcccacagggg	11	16	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:20357449G>A	uc002dgz.2	-	5	1310	c.1181C>T	c.(1180-1182)ACG>ATG	p.T394M	UMOD_uc002dha.2_Missense_Mutation_p.T394M|UMOD_uc002dhb.2_Missense_Mutation_p.T427M	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	394	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)|skin(1)	2						AGGACGTACCGTCAACACTGT	0.398													A	20357449	G	A	20357449	3	1	25	1	0	0	0	0	1	0	0	0	16976	1159	40	1	769	1	UMOD	16	20357449	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	4093911	20357449	69997304	992	23428											
ACSM3	6296	broad.mit.edu	37	chr16	20796389	20796389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaaatggagaaacaagaCgggcctggatatctacgaag	12	6	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:20796389C>T	uc002dhr.2	+	8	1290	c.1103C>T	c.(1102-1104)ACG>ATG	p.T368M	ACSM3_uc002dhq.2_Missense_Mutation_p.T368M|ACSM3_uc010vba.1_Missense_Mutation_p.T397M|ERI2_uc002dhs.2_Intron	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	SA hypertension-associated homolog isoform 1	368					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			ovary(1)	1						AGAAACAAGACGGGCCTGGAT	0.423													T	20796389	C	T	20796389	3	4	25	1	0	0	0	0	1	0	0	0	185	536	19	1	1129	1	ACSM3	16	20796389	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	438940	20796389	69558364	993	23429											
DNAH3	55567	broad.mit.edu	37	chr16	21117878	21117878	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctaagttgcctcctgagTttgaacacagtgacagcact	8	11	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:21117878T>C	uc010vbe.1	-	15	2217	c.2217A>G	c.(2215-2217)AAA>AAG	p.K739K	DNAH3_uc002die.2_Silent_p.K679K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	739	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GCCTCCTGAGTTTGAACACAG	0.483													C	21117878	T	C	21117878	2	2	25	1	0	0	0	0	0	0	0	1	4603	1722	60	3		3	DNAH3	16	21117878	Silent	SNP	T	TCGA-BR-4370-01A-01D-1158-08	321489	21117878	69236875	994	23430											
OTOA	146183	broad.mit.edu	37	chr16	21721321	21721321	+	Frame_Shift_Del	DEL	C	C	-													cagccaactggaatccctctCccccgaggctgtgcacggag							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:21721320_21721320TC>T	uc002djh.3	+	11	1217	c.1216_1216TC>T	c.(1216-1218)tccfs	p.S406fs	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Frame_Shift_Del_p.S327fs|OTOA_uc002dji.3_Frame_Shift_Del_p.S82fs|OTOA_uc010vbk.2_Frame_Shift_Del_p.S54fs	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	420					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GGAATCCCTCTCCCCCGAGGC	0.552													-	21721321	C	-	21721321	7	5	25	1	0	1	0	1	0	0	0	0	11302	855	30	0	1309	0	OTOA	16	21721321	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	603443	21721321	68633432	995	23431											
PRKCB	5579	broad.mit.edu	37	chr16	24185846	24185846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttaatttcagattttacGctgcagaaattgccatcggt	7	7	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:24185846G>A	uc002dmd.2	+	12	1536	c.1339G>A	c.(1339-1341)GCT>ACT	p.A447T	PRKCB_uc002dme.2_Missense_Mutation_p.A447T	NM_212535	NP_997700	P05771	KPCB_HUMAN	protein kinase C, beta isoform 1	447	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)	CAGATTTTACGCTGCAGAAAT	0.393													A	24185846	G	A	24185846	3	1	25	1	0	0	0	0	1	0	0	0	12508	1087	38	1	1385	1	PRKCB	16	24185846	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2464525	24185846	66168907	996	23432											
RBBP6	5930	broad.mit.edu	37	chr16	24580149	24580149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctggttcaacacgttcacGctcttattctcgatcattca	5	12	7	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:24580149G>A	uc002dmh.2	+	17	3178	c.2138G>A	c.(2137-2139)CGC>CAC	p.R713H	RBBP6_uc010vcb.1_Missense_Mutation_p.R580H|RBBP6_uc002dmi.2_Missense_Mutation_p.R679H|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.R546H	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	713					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		ACACGTTCACGCTCTTATTCT	0.418													A	24580149	G	A	24580149	3	1	25	1	0	0	0	0	1	0	0	0	13103	1087	38	1	2258	1	RBBP6	16	24580149	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	394303	24580149	65774604	997	23433											
RBBP6	5930	broad.mit.edu	37	chr16	24583099	24583099	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttgtaaggatcgtgagaAgcatgtattagaagcaagga	12	5	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:24583099A>C	uc002dmh.2	+	18	5752	c.4712A>C	c.(4711-4713)AAG>ACG	p.K1571T	RBBP6_uc002dmi.2_Missense_Mutation_p.K1537T|RBBP6_uc010bxr.2_Missense_Mutation_p.K731T|RBBP6_uc002dmk.2_Missense_Mutation_p.K1404T	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1571					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		GATCGTGAGAAGCATGTATTA	0.358													C	24583099	A	C	24583099	3	2	25	1	0	0	0	0	1	0	0	0	13103	72	3	5	4836	5	RBBP6	16	24583099	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	2950	24583099	65771654	998	23434											
TUFM	7284	broad.mit.edu	37	chr16	28855746	28855746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagagtcctcaccagggaCggagtacaccgcctccacag	11	15	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:28855746C>T	uc002drh.2	-	6	950	c.811G>A	c.(811-813)GTC>ATC	p.V271I	uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank	NM_003321	NP_003312	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	268						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			ovary(1)	1						TCACCAGGGACGGAGTACACC	0.602													T	28855746	C	T	28855746	3	4	25	1	0	0	0	0	1	0	0	0	16768	536	19	1	576	1	TUFM	16	28855746	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	4272647	28855746	61499007	999	23435											
ITGAL	3683	broad.mit.edu	37	chr16	30507511	30507511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctctgacagacatcaacGgcgatgggctggtagacgtg	14	10	2	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:30507511G>A	uc002dyi.3	+	14	1773	c.1597G>A	c.(1597-1599)GGC>AGC	p.G533S	ITGAL_uc002dyj.3_Missense_Mutation_p.G450S|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	533	Potential.|FG-GAP 6.|Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	AGACATCAACGGCGATGGGCT	0.617													A	30507511	G	A	30507511	3	1	25	1	0	0	0	0	1	0	0	0	7886	1116	39	1	1651	1	ITGAL	16	30507511	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1651765	30507511	59847242	1000	23436											
ZNF785	146540	broad.mit.edu	37	chr16	30594406	30594406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaagcggcgcccgcagtcGgggcaggggtagggcttctc	19	12	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:30594406G>A	uc002dyw.1	-	3	771	c.693C>T	c.(691-693)CCC>CCT	p.P231P	uc002dyu.2_RNA|ZNF785_uc002dyv.1_Silent_p.P216P|ZNF785_uc010vez.1_Silent_p.P196P	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN	zinc finger protein 785	231	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GCCCGCAGTCGGGGCAGGGGT	0.667													A	30594406	G	A	30594406	2	1	25	1	0	0	0	0	0	0	0	1	18154	1103	39	1		1	ZNF785	16	30594406	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	86895	30594406	59760347	1001	23437											
SETD1A	9739	broad.mit.edu	37	chr16	30977317	30977318	+	Frame_Shift_Ins	INS	-	-	C													tgattgccgcctcagctggcINSccccccggtggggcctttgg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:30977316_30977317G>GC	uc002ead.1	+	7	2800_2801	c.2114_2115G>GC	c.(2113-2115)ggcfs	p.G705fs		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	705					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GCCTCAGCTGGCCCCCCCGGTG	0.644													C	30977318	-	C	30977317	7	5	25	1	0	1	1	0	0	0	0	0	14130	726	26	0	2141	0	SETD1A	16	30977317	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	382911	30977317	59377436	1002	23438											
HSD3B7	80270	broad.mit.edu	37	chr16	30999391	30999391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccaacaccaccttcaccGtcagcaccgacaaggctcag	8	17	3	0	rs143419053		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:30999391G>A	uc002eaf.2	+	7	1103	c.997G>A	c.(997-999)GTC>ATC	p.V333I	HSD3B7_uc010cac.2_3'UTR|HSD3B7_uc002eag.2_3'UTR|HSD3B7_uc002eah.2_Missense_Mutation_p.V333I	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta-	333					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity				0						CACCTTCACCGTCAGCACCGA	0.642													A	30999391	G	A	30999391	3	1	25	1	0	0	0	0	1	0	0	0	7392	1145	40	1	1019	1	HSD3B7	16	30999391	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	22074	30999391	59355362	1003	23439											
TRIM72	493829	broad.mit.edu	37	chr16	31235536	31235536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctttgacccgagctctgcGcacccgagcctggtggtgtc	12	15	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:31235536G>A	uc002ebn.1	+	7	1123	c.894G>A	c.(892-894)GCG>GCA	p.A298A	uc002ebp.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	tripartite motif-containing 72	298	B30.2/SPRY.				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding				0						CGAGCTCTGCGCACCCGAGCC	0.662													A	31235536	G	A	31235536	2	1	25	1	0	0	0	0	0	0	0	1	16542	1074	38	1		1	TRIM72	16	31235536	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	236145	31235536	59119217	1004	23440											
ITFG1	81533	broad.mit.edu	37	chr16	47294490	47294490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagaaggtggcaaccatgGcatccttaatttgatttagg	10	7	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:47294490G>A	uc002eet.2	-	11	1249	c.1187C>T	c.(1186-1188)GCC>GTC	p.A396V	ITFG1_uc010vgg.1_Missense_Mutation_p.A141V|ITFG1_uc010vgh.1_Missense_Mutation_p.A283V	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	396						extracellular region|integral to membrane				ovary(1)|central_nervous_system(1)	2		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				GGCAACCATGGCATCCTTAAT	0.433													A	47294490	G	A	47294490	3	1	25	1	0	0	0	0	1	0	0	0	7869	1203	42	2	683	2	ITFG1	16	47294490	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	16058954	47294490	43060263	1005	23441											
LONP2	83752	broad.mit.edu	37	chr16	48337105	48337105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataccagagaggcaggggttCgttctctggatagaaaactt	12	7	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:48337105C>T	uc002efi.1	+	11	1773	c.1684C>T	c.(1684-1686)CGT>TGT	p.R562C	LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.R518C	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	562					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0						GGCAGGGGTTCGTTCTCTGGA	0.413													T	48337105	C	T	48337105	3	4	25	1	0	0	0	0	1	0	0	0	8893	884	31	1	1726	1	LONP2	16	48337105	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1042615	48337105	42017648	1006	23442											
ZNF423	23090	broad.mit.edu	37	chr16	49671946	49671946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccacagaggcgctggagtCgggtgtggcgctgctcatgg	17	11	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:49671946C>T	uc002efs.2	-	5	1415	c.1117G>A	c.(1117-1119)GAC>AAC	p.D373N	ZNF423_uc010vgn.1_Missense_Mutation_p.D256N	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	373					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GCGCTGGAGTCGGGTGTGGCG	0.677													T	49671946	C	T	49671946	3	4	25	1	0	0	0	0	1	0	0	0	17895	884	31	1	2757	1	ZNF423	16	49671946	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1334841	49671946	40682807	1007	23443											
ZNF423	23090	broad.mit.edu	37	chr16	49672418	49672418	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagggcttgctggagctgtgGgtcttcaggtggatcttgag	17	6	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:49672418G>T	uc002efs.2	-	5	943	c.645C>A	c.(643-645)ACC>ACA	p.T215T	ZNF423_uc010vgn.1_Silent_p.T98T	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	215	C2H2-type 4.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				TGGAGCTGTGGGTCTTCAGGT	0.592													T	49672418	G	T	49672418	2	4	25	1	0	0	0	0	0	0	0	1	17895	1219	43	5		5	ZNF423	16	49672418	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	472	49672418	40682335	1008	23444											
ADCY7	113	broad.mit.edu	37	chr16	50325704	50325704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactactgcccttcagcatgCggggcgctgtcgccgttggg	14	14	1	0	rs141967597		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:50325704C>T	uc002egd.1	+	3	701	c.433C>T	c.(433-435)CGG>TGG	p.R145W	ADCY7_uc002egb.1_Missense_Mutation_p.R145W|ADCY7_uc002egc.1_Missense_Mutation_p.R145W	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	145					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CTTCAGCATGCGGGGCGCTGT	0.632													T	50325704	C	T	50325704	3	4	25	1	0	0	0	0	1	0	0	0	299	759	27	1	443	1	ADCY7	16	50325704	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	653286	50325704	40029049	1009	23445											
NOD2	64127	broad.mit.edu	37	chr16	50745284	50745284	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtgccacctgcctgtcTtctcatggatggtgtccaaa	10	11	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:50745284T>C	uc002egm.1	+	4	1567	c.1462T>C	c.(1462-1464)TTC>CTC	p.F488L	NOD2_uc010cbk.1_Missense_Mutation_p.F461L|NOD2_uc002egl.1_Missense_Mutation_p.F266L|NOD2_uc010cbl.1_Missense_Mutation_p.F266L|NOD2_uc010cbm.1_Missense_Mutation_p.F266L|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	488	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				CCTGCCTGTCTTCTCATGGAT	0.587													C	50745284	T	C	50745284	3	2	25	1	0	0	0	0	1	0	0	0	10517	1609	56	3	1476	3	NOD2	16	50745284	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	419580	50745284	39609469	1010	23446											
CHD9	80205	broad.mit.edu	37	chr16	53272439	53272439	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaacgttgtggtttatcatGggagcctgattagcagacaa	11	6	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:53272439G>T	uc002ehb.2	+	11	2982	c.2818G>T	c.(2818-2820)GGG>TGG	p.G940W	CHD9_uc002egy.2_Missense_Mutation_p.G940W|CHD9_uc002eha.1_Missense_Mutation_p.G940W|CHD9_uc002ehc.2_Missense_Mutation_p.G940W|CHD9_uc002ehf.2_Missense_Mutation_p.G54W|CHD9_uc002ehd.2_Missense_Mutation_p.G466W|CHD9_uc002ehe.1_Missense_Mutation_p.G54W	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	940	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				GGTTTATCATGGGAGCCTGAT	0.388													T	53272439	G	T	53272439	3	4	25	1	0	0	0	0	1	0	0	0	3332	1348	47	5	2860	5	CHD9	16	53272439	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2527155	53272439	37082314	1011	23447											
IRX6	79190	broad.mit.edu	37	chr16	55363164	55363164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactaccgctgaactgtgCgccgtgcccgcggaggagcg	17	13	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:55363164C>T	uc002ehy.2	+	5	1807	c.1274C>T	c.(1273-1275)GCG>GTG	p.A425V	IRX6_uc002ehx.2_Missense_Mutation_p.A425V	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	425						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						CTGAACTGTGCGCCGTGCCCG	0.617													T	55363164	C	T	55363164	3	4	25	1	0	0	0	0	1	0	0	0	7848	768	27	1	1292	1	IRX6	16	55363164	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2090725	55363164	34991589	1012	23448											
NLRC5	84166	broad.mit.edu	37	chr16	57092032	57092032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgccttctggaatgtctgCcgcaggtgcccatctccggt	12	13	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:57092032C>T	uc002ekk.1	+	28	4027	c.3802C>T	c.(3802-3804)CCG>TCG	p.P1268S	NLRC5_uc002ekn.2_Intron|NLRC5_uc002ekl.2_Missense_Mutation_p.P1072S|NLRC5_uc002ekm.2_Missense_Mutation_p.P1042S|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekp.1_Missense_Mutation_p.P183S|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Missense_Mutation_p.P155S	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	1268					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				GGAATGTCTGCCGCAGGTGCC	0.577													T	57092032	C	T	57092032	3	4	25	1	0	0	0	0	1	0	0	0	10470	739	26	2	3904	2	NLRC5	16	57092032	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1728868	57092032	33262721	1013	23449											
GPR56	9289	broad.mit.edu	37	chr16	57687898	57687898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctttctcctccctgccagGcagttgcagagcctggagtc	11	15	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:57687898G>A	uc002emb.2	+	6	913	c.621G>A	c.(619-621)CAG>CAA	p.Q207Q	GPR56_uc002elz.1_Silent_p.Q37Q|GPR56_uc002ema.1_Silent_p.Q32Q|GPR56_uc002emc.2_Silent_p.Q207Q|GPR56_uc002emf.2_Silent_p.Q207Q|GPR56_uc010vhs.1_Silent_p.Q207Q|GPR56_uc002emd.2_Silent_p.Q207Q|GPR56_uc002eme.2_Silent_p.Q207Q|GPR56_uc010vht.1_Silent_p.Q212Q|GPR56_uc002emg.3_Silent_p.Q207Q|GPR56_uc010vhu.1_Silent_p.Q32Q	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	207	Extracellular (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						TCCCTGCCAGGCAGTTGCAGA	0.552													A	57687898	G	A	57687898	2	1	25	1	0	0	0	0	0	0	0	1	6700	1217	42	2		2	GPR56	16	57687898	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	595866	57687898	32666855	1014	23450											
CDH8	1006	broad.mit.edu	37	chr16	61689517	61689517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattgtcaaggtgctagtgCtgctcagtggaggatttcca	13	7	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:61689517C>T	uc002eog.1	-	11	2015	c.1763G>A	c.(1762-1764)AGC>AAC	p.S588N		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	588	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGTGCTAGTGCTGCTCAGTGG	0.453													T	61689517	C	T	61689517	3	4	25	1	0	0	0	0	1	0	0	0	3116	797	28	2	644	2	CDH8	16	61689517	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	4001619	61689517	28665236	1015	23451											
EXOC3L	283849	broad.mit.edu	37	chr16	67221273	67221273	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccacgttgtactgtggcgGgcagcaaggcgctactagtg	15	10	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:67221273G>T	uc002erx.1	-	5	1136	c.895C>A	c.(895-897)CCG>ACG	p.P299T	EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Intron|EXOC3L_uc002ery.1_Missense_Mutation_p.P243T|EXOC3L_uc010vje.1_Missense_Mutation_p.P238T	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	299	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		TACTGTGGCGGGCAGCAAGGC	0.652													T	67221273	G	T	67221273	3	4	25	1	0	0	0	0	1	0	0	0	5304	1232	43	5	1385	5	EXOC3L	16	67221273	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	5531756	67221273	23133480	1016	23452											
AGRP	181	broad.mit.edu	37	chr16	67517002	67517002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttcttcagtggggcccGcaggcccaggcctggggcag	16	13	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:67517002G>A	uc002etg.1	-	3	442	c.142C>T	c.(142-144)CGG>TGG	p.R48W	ATP6V0D1_uc002ete.1_5'Flank|ATP6V0D1_uc010vjo.1_5'Flank	NM_001138	NP_001129	O00253	AGRP_HUMAN	agouti related protein homolog isoform 1	48					hormone-mediated signaling pathway|neuropeptide signaling pathway|regulation of feeding behavior	extracellular space|Golgi lumen	neuropeptide hormone activity				0		Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16)		AGTGGGGCCCGCAGGCCCAGG	0.592													A	67517002	G	A	67517002	3	1	25	1	0	0	0	0	1	0	0	0	398	1086	38	1	264	1	AGRP	16	67517002	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	295729	67517002	22837751	1017	23453											
RLTPR	146206	broad.mit.edu	37	chr16	67683500	67683500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaagttgctggccaaggcgCtgcgggtcaactcgaggctc	14	13	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:67683500C>A	uc002etn.2	+	20	2017	c.1897C>A	c.(1897-1899)CTG>ATG	p.L633M	RLTPR_uc010cel.1_Missense_Mutation_p.L626M|RLTPR_uc010vjr.1_Missense_Mutation_p.L597M	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	633	Tropomodulin-like.									breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGCCAAGGCGCTGCGGGTCAA	0.706													A	67683500	C	A	67683500	3	1	25	1	0	0	0	0	1	0	0	0	13394	796	28	5	1975	5	RLTPR	16	67683500	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	166498	67683500	22671253	1018	23454											
GFOD2	81577	broad.mit.edu	37	chr16	67709348	67709348	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcccctgctcaggcagtcCtgcgcccactgccagcgagt	13	17	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:67709348C>A	uc002eub.2	-	3	1163	c.868G>T	c.(868-870)GGA>TGA	p.G290*	GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Nonsense_Mutation_p.G185*	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain	290						proteinaceous extracellular matrix	binding|oxidoreductase activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TCAGGCAGTCCTGCGCCCACT	0.662													A	67709348	C	A	67709348	4	1	25	1	0	0	0	0	0	1	0	0	6344	690	24	5	293	5	GFOD2	16	67709348	Nonsense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	25848	67709348	22645405	1019	23455											
NFATC3	4775	broad.mit.edu	37	chr16	68191771	68191771	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttctttttcctgattaGctcctgggctataacgaaaa	8	8	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:68191771G>A	uc002evo.1	+	4	1612	c.1402_splice	c.e4-1	p.L468_splice	NFATC3_uc010vkl.1_Splice_Site|NFATC3_uc010vkm.1_Splice_Site|NFATC3_uc010vkn.1_Splice_Site|NFATC3_uc010vko.1_Splice_Site|NFATC3_uc010vkp.1_Splice_Site|NFATC3_uc010vkq.1_Splice_Site|NFATC3_uc002evl.2_Splice_Site|NFATC3_uc002evk.2_Splice_Site_p.L468_splice|NFATC3_uc002evm.1_Splice_Site_p.L468_splice|NFATC3_uc002evn.1_Splice_Site_p.L468_splice|NFATC3_uc010vkr.1_Splice_Site|NFATC3_uc010vks.1_Splice_Site|NFATC3_uc010vkt.1_Splice_Site|NFATC3_uc010vku.1_Splice_Site|NFATC3_uc010vkv.1_Splice_Site|NFATC3_uc010vkw.1_Splice_Site|NFATC3_uc010vkx.1_Splice_Site|NFATC3_uc010vky.1_Splice_Site|NFATC3_uc010vkz.1_Splice_Site|NFATC3_uc010vla.1_Splice_Site|NFATC3_uc010vlb.1_Splice_Site|NFATC3_uc010vlc.1_Splice_Site	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells,						inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TTCCTGATTAGCTCCTGGGCT	0.338													A	68191771	G	A	68191771	5	1	25	1	0	0	0	0	0	0	1	0	10364	985	34	2	1415	2	NFATC3	16	68191771	Splice_Site	SNP	G	TCGA-BR-4370-01A-01D-1158-08	482423	68191771	22162982	1020	23456											
NOB1	28987	broad.mit.edu	37	chr16	69786254	69786254	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggctggggtagtctcctgTtttctttgaaaactcagtca	11	8	4	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:69786254T>C	uc002exs.2	-	3	233	c.217A>G	c.(217-219)ACA>GCA	p.T73A		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	nin one binding protein	73	PINc.					nucleus	metal ion binding|protein binding				0						TAGTCTCCTGTTTTCTTTGAA	0.423													C	69786254	T	C	69786254	3	2	25	1	0	0	0	0	1	0	0	0	10511	1725	60	3	1049	3	NOB1	16	69786254	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	1594483	69786254	20568499	1021	23457											
MTSS1L	92154	broad.mit.edu	37	chr16	70708296	70708296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagtcatgggaggaaacGctggagaggcgagcggtggt	19	7	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:70708296G>A	uc002ezj.2	-	11	1226	c.966C>T	c.(964-966)AGC>AGT	p.S322S		NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	322	Ser-rich.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1						GGGAGGAAACGCTGGAGAGGC	0.652													A	70708296	G	A	70708296	2	1	25	1	0	0	0	0	0	0	0	1	9963	1078	38	1		1	MTSS1L	16	70708296	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	922042	70708296	19646457	1022	23458											
BCAR1	9564	broad.mit.edu	37	chr16	75263554	75263556	+	In_Frame_Del	DEL	AGG	AGG	-													tggtggccacgatgccgcgcAggaggtcgcacagcaggttg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:75263553_75263555CAGG>C	uc002fdv.3	-	6	2613_2615	c.2467_2469CCTG>G	c.(2467-2469)ctg>G	p.L823del	BCAR1_uc002fdt.3_In_Frame_Del_p.L276del|BCAR1_uc002fdu.3_In_Frame_Del_p.L613del|BCAR1_uc010vna.2_In_Frame_Del_p.L821del|BCAR1_uc010cgu.3_In_Frame_Del_p.L841del|BCAR1_uc010vnb.2_In_Frame_Del_p.L869del|BCAR1_uc002fdw.3_In_Frame_Del_p.L823del|BCAR1_uc010vnc.2_In_Frame_Del_p.L675del|BCAR1_uc010vnd.2_In_Frame_Del_p.L841del|BCAR1_uc002fdx.3_In_Frame_Del_p.L841del	NM_014567	NP_055382	P56945	BCAR1_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA.	823					B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth	cytosol|focal adhesion|membrane fraction|ruffle	SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CGATGCCGCGCAGGAGGTCGCAC	0.655													-	75263556	AGG	-	75263554	7	5	25	1	0	1	0	1	0	0	0	0	1348	188	7	0	148	0	BCAR1	16	75263554	In_Frame_Del	DEL	AGG	TCGA-BR-4370-01A-01D-1158-08	4555258	75263554	15091199	1023	23459											
CHST6	4166	broad.mit.edu	37	chr16	75513450	75513450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggagcgcaccaggtcgcGcacagccatgtgcagcgttg	15	13	0	0	rs121917826		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:75513450G>A	uc002fef.2	-	3	457	c.277C>T	c.(277-279)CGC>TGC	p.R93C	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.R93C	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	93	Lumenal (Potential).		R -> H (in MCD).		keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						ACCAGGTCGCGCACAGCCATG	0.642													A	75513450	G	A	75513450	3	1	25	1	0	0	0	0	1	0	0	0	3408	1087	38	1	914	1	CHST6	16	75513450	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	249896	75513450	14841303	1024	23460											
CDYL2	124359	broad.mit.edu	37	chr16	80666968	80666968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactggacagcaggatgtgcGtgaacccttcttccttccgc	11	13	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:80666968G>A	uc002ffs.2	-	3	887	c.782C>T	c.(781-783)ACG>ATG	p.T261M		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	261						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						CAGGATGTGCGTGAACCCTTC	0.547													A	80666968	G	A	80666968	3	1	25	1	0	0	0	0	1	0	0	0	3186	1145	40	1	758	1	CDYL2	16	80666968	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	5153518	80666968	9687785	1025	23461											
PKD1L2	114780	broad.mit.edu	37	chr16	81155214	81155214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaccatgtagtagaggaGgaagaggaagtagatgagct	14	6	0	4			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:81155214G>A	uc002fgh.1	-	40	6589	c.6589C>T	c.(6589-6591)CTC>TTC	p.L2197F	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	2197	Helical; (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TAGTAGAGGAGGAAGAGGAAG	0.602													A	81155214	G	A	81155214	3	1	25	1	0	0	0	0	1	0	0	0	11965	1000	35	4	814	4	PKD1L2	16	81155214	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	488246	81155214	9199539	1026	23462											
PKD1L2	114780	broad.mit.edu	37	chr16	81155261	81155261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccacgaaggggtgccagCcgtcggtgaaggggtacagg	17	10	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:81155261C>T	uc002fgh.1	-	40	6542	c.6542G>A	c.(6541-6543)GGC>GAC	p.G2181D	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	2181	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GGGGTGCCAGCCGTCGGTGAA	0.597													T	81155261	C	T	81155261	3	4	25	1	0	0	0	0	1	0	0	0	11965	739	26	2	861	2	PKD1L2	16	81155261	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	47	81155261	9199492	1027	23463											
KIAA0182	23199	broad.mit.edu	37	chr16	85682290	85682291	+	Frame_Shift_Ins	INS	-	-	C													ggccacagcgtgcccagcacINScccccccgtggtgaccatcg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:85682289_85682290A>AC	uc002fix.3	+	2	432_433	c.358_359A>AC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688													C	85682291	-	C	85682290	7	5	25	1	0	1	1	0	0	0	0	0	8159	507	18	0	369	0	KIAA0182	16	85682290	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	4527029	85682290	4672463	1028	23464											
JPH3	57338	broad.mit.edu	37	chr16	87636864	87636864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggccccaagggccaaggcGaatacaccggctcgtggagc	14	15	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:87636864G>A	uc002fkd.2	+	1	366	c.112G>A	c.(112-114)GAA>AAA	p.E38K	JPH3_uc010vou.1_Intron	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	38	Gly-rich.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GGGCCAAGGCGAATACACCGG	0.672													A	87636864	G	A	87636864	3	1	25	1	0	0	0	0	1	0	0	0	7962	1059	37	1	114	1	JPH3	16	87636864	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1954574	87636864	2717889	1029	23465											
APRT	353	broad.mit.edu	37	chr16	88876484	88876484	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggagacccttaccaccagTggccagcagatcatccacga	11	14	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:88876484T>C	uc002flv.2	-	4	429	c.394A>G	c.(394-396)ACT>GCT	p.T132A	APRT_uc002flw.2_Missense_Mutation_p.T132A	NM_000485	NP_000476	P07741	APT_HUMAN	adenine phosphoribosyltransferase isoform a	132					purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	TTACCACCAGTGGCCAGCAGA	0.612													C	88876484	T	C	88876484	3	2	25	1	0	0	0	0	1	0	0	0	819	1696	59	3	156	3	APRT	16	88876484	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	1239620	88876484	1478269	1030	23466											
ANKRD11	29123	broad.mit.edu	37	chr16	89352563	89352563	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgttgctctgctgcgggTtccctccgtaccgcagcagc	11	16	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:89352563T>C	uc002fmx.1	-	8	1237	c.776A>G	c.(775-777)AAC>AGC	p.N259S	ANKRD11_uc002fmy.1_Missense_Mutation_p.N259S|ANKRD11_uc002fnc.1_Missense_Mutation_p.N259S|ANKRD11_uc002fnb.1_Missense_Mutation_p.N216S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	259	ANK 3.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGCTGCGGGTTCCCTCCGTA	0.577													C	89352563	T	C	89352563	3	2	25	1	0	0	0	0	1	0	0	0	639	1725	60	3	7239	3	ANKRD11	16	89352563	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	476079	89352563	1002190	1031	23467											
RPH3AL	9501	broad.mit.edu	37	chr17	97063	97063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttgtagaaccaggcccccGacctcttccagacctgagtg	9	15	1	3	rs144718442		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:97063G>A	uc002frd.1	-	5	496	c.452C>T	c.(451-453)TCG>TTG	p.S151L	RPH3AL_uc010vpy.1_Missense_Mutation_p.S151L|RPH3AL_uc002fre.1_Missense_Mutation_p.S151L|RPH3AL_uc002frf.1_Missense_Mutation_p.S122L|RPH3AL_uc010cjl.1_Missense_Mutation_p.S122L	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	151	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CCAGGCCCCCGACCTCTTCCA	0.637													A	97063	G	A	97063	3	1	25	1	0	0	0	0	1	0	0	0	13552	1059	37	1	511	1	RPH3AL	17	97063	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08		97063	81098147	1032	23468											
HIC1	3090	broad.mit.edu	37	chr17	1961719	1961719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagtgccaggtgtgcggcGgcaagttcgcacagcaacgc	15	12	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:1961719G>A	uc010cjy.2	+	2	1792	c.1792G>A	c.(1792-1794)GGC>AGC	p.G598S	HIC1_uc002fty.3_Missense_Mutation_p.G579S|HIC1_uc002ftz.3_Missense_Mutation_p.G579S	NM_001098202	NP_001091672	Q14526	HIC1_HUMAN	hypermethylated in cancer 1 isoform 2	598	C2H2-type 5.				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1				READ - Rectum adenocarcinoma(1115;0.236)		GGTGTGCGGCGGCAAGTTCGC	0.493													A	1961719	G	A	1961719	3	1	25	1	0	0	0	0	1	0	0	0	7101	1116	39	1	1798	1	HIC1	17	1961719	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1864656	1961719	79233491	1033	23469											
PAFAH1B1	5048	broad.mit.edu	37	chr17	2579901	2579901	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgtgccttatgaccctcGtaagtttgcataatcttacc	7	11	1	1	rs113994203		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:2579901G>A	uc002fuw.3	+	9	1570	c.1002_splice	c.e9+1	p.L334_splice	PAFAH1B1_uc010ckb.1_Intron|PAFAH1B1_uc010vqz.1_Intron	NM_000430	NP_000421	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase,						acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			skin(1)	1						TATGACCCTCGTAAGTTTGCA	0.368													A	2579901	G	A	2579901	5	1	25	1	0	0	0	0	0	0	1	0	11384	1159	40	1	1033	1	PAFAH1B1	17	2579901	Splice_Site	SNP	G	TCGA-BR-4370-01A-01D-1158-08	618182	2579901	78615309	1034	23470											
MYBBP1A	10514	broad.mit.edu	37	chr17	4442961	4442961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagttttggggatttggCaggggtgctggggctccggg	20	7	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:4442961C>T	uc002fyb.3	-	26	3798	c.3736G>A	c.(3736-3738)GCC>ACC	p.A1246T	MYBBP1A_uc002fxz.3_Missense_Mutation_p.A1246T|SPNS2_uc002fxx.2_3'UTR|SPNS2_uc002fxy.2_3'UTR|MYBBP1A_uc002fya.3_Missense_Mutation_p.A191T|MYBBP1A_uc010vsa.1_Missense_Mutation_p.A288T	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	1246	Required for nuclear and nucleolar localization (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						GGGGATTTGGCAGGGGTGCTG	0.622													T	4442961	C	T	4442961	3	4	25	1	0	0	0	0	1	0	0	0	10008	710	25	2	294	2	MYBBP1A	17	4442961	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1863060	4442961	76752249	1035	23471											
PLD2	5338	broad.mit.edu	37	chr17	4720531	4720531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccccttcacacttccaGgagggcagtgcaccaccgta	9	16	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:4720531G>A	uc002fzc.2	+	17	1893	c.1792G>A	c.(1792-1794)GGA>AGA	p.G598R	PLD2_uc010vsj.1_Missense_Mutation_p.G455R|PLD2_uc002fzd.2_Missense_Mutation_p.G598R	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	598	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)	CACACTTCCAGGAGGGCAGTG	0.597													A	4720531	G	A	4720531	3	1	25	1	0	0	0	0	1	0	0	0	12046	1001	35	4	1854	4	PLD2	17	4720531	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	277570	4720531	76474679	1036	23472											
ENO3	2027	broad.mit.edu	37	chr17	4860322	4860322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttgctggacgcaagttcCgtaacccgaaggccaagtga	11	11	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:4860322C>T	uc002gab.3	+	12	1379	c.1285C>T	c.(1285-1287)CGT>TGT	p.R429C	ENO3_uc002gac.3_Missense_Mutation_p.R429C|ENO3_uc010vss.1_Missense_Mutation_p.R386C|ENO3_uc010vst.1_Missense_Mutation_p.R256C	NM_053013	NP_443739	P13929	ENOB_HUMAN	enolase 3	429					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			ovary(1)	1						ACGCAAGTTCCGTAACCCGAA	0.552											OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	4860322	C	T	4860322	3	4	25	1	0	0	0	0	1	0	0	0	5123	652	23	1	1327	1	ENO3	17	4860322	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	139791	4860322	76334888	1037	23473											
GPR172B	55065	broad.mit.edu	37	chr17	4937566	4937566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacctgctcgcccttgcccGgggccagctgcctccacagg	13	18	0	0	rs137937212		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:4937566G>A	uc002gap.3	-	3	931	c.218C>T	c.(217-219)CCG>CTG	p.P73L	GPR172B_uc002gao.3_Missense_Mutation_p.P73L|GPR172B_uc010ckw.2_5'UTR|GPR172B_uc010ckx.2_Missense_Mutation_p.P73L	NM_001104577	NP_001098047	Q9NWF4	RFT_HUMAN	G protein-coupled receptor 172B precursor	73						integral to plasma membrane	receptor activity|riboflavin transporter activity				0						GCCCTTGCCCGGGGCCAGCTG	0.662													A	4937566	G	A	4937566	3	1	25	1	0	0	0	0	1	0	0	0	6670	1116	39	1	1140	1	GPR172B	17	4937566	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	77244	4937566	76257644	1038	23474											
USP6	9098	broad.mit.edu	37	chr17	5042569	5042569	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaaacgcgagcaagggtcCttggcacccaggcctgtgcc	13	15	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:5042569C>A	uc002gau.1	+	22	3328	c.1098C>A	c.(1096-1098)TCC>TCA	p.S366S	USP6_uc002gav.1_Silent_p.S366S|USP6_uc010ckz.1_Silent_p.S49S|uc002gbd.2_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	366					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						AGCAAGGGTCCTTGGCACCCA	0.647			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								A	5042569	C	A	5042569	2	1	25	1	0	0	0	0	0	0	0	1	17083	668	24	5		5	USP6	17	5042569	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	105003	5042569	76152641	1039	23475											
NLRP1	22861	broad.mit.edu	37	chr17	5486064	5486064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccctgggtgcaccccgccGgcaattcatggatccagggc	13	15	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:5486064G>A	uc002gci.2	-	2	929	c.374C>T	c.(373-375)CCG>CTG	p.P125L	NLRP1_uc002gcg.1_Missense_Mutation_p.P125L|NLRP1_uc002gck.2_Missense_Mutation_p.P125L|NLRP1_uc002gcj.2_Missense_Mutation_p.P125L|NLRP1_uc002gcl.2_Missense_Mutation_p.P125L|NLRP1_uc002gch.3_Missense_Mutation_p.P125L|NLRP1_uc010clh.2_Missense_Mutation_p.P125L	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	125					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				GCACCCCGCCGGCAATTCATG	0.617													A	5486064	G	A	5486064	3	1	25	1	0	0	0	0	1	0	0	0	10471	1116	39	1	4186	1	NLRP1	17	5486064	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	443495	5486064	75709146	1040	23476											
EIF5A	1984	broad.mit.edu	37	chr17	7213109	7213109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgaagactggcaagcacgGccacgccaaggttagaattt	11	10	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:7213109G>A	uc010vtv.1	+	2	392	c.155G>A	c.(154-156)GGC>GAC	p.G52D	EIF5A_uc002gfr.2_Missense_Mutation_p.G82D|EIF5A_uc010vtu.1_Missense_Mutation_p.A42T|EIF5A_uc002gft.2_Missense_Mutation_p.G52D|EIF5A_uc002gfu.2_Missense_Mutation_p.G52D	NM_001970	NP_001961	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	52	DOHH-binding.			G->A: Causes total inactivation of eIF5A in supporting yeast growth.	induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding				0						GGCAAGCACGGCCACGCCAAG	0.537													A	7213109	G	A	7213109	3	1	25	1	0	0	0	0	1	0	0	0	5041	1203	42	2	251	2	EIF5A	17	7213109	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1727045	7213109	73982101	1041	23477											
NEURL4	84461	broad.mit.edu	37	chr17	7224553	7224553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaactgacaattgacacacCgcggactggcccgtagagat	12	11	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:7224553C>T	uc002gga.1	-	20	3245	c.3238G>A	c.(3238-3240)GGT>AGT	p.G1080S	NEURL4_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|NEURL4_uc002ggb.1_Missense_Mutation_p.G1078S	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	1080	NHR 5.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						ATTGACACACCGCGGACTGGC	0.577													T	7224553	C	T	7224553	3	4	25	1	0	0	0	0	1	0	0	0	10347	652	23	1	1490	1	NEURL4	17	7224553	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	11444	7224553	73970657	1042	23478											
ACAP1	9744	broad.mit.edu	37	chr17	7246793	7246793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacgcagaggttcccaggcGccgggcccaggaggcagaag	16	13	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:7246793G>A	uc002ggd.2	+	6	646	c.440G>A	c.(439-441)CGC>CAC	p.R147H		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	centaurin beta1	147	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			breast(2)|large_intestine(1)	3						GTTCCCAGGCGCCGGGCCCAG	0.682													A	7246793	G	A	7246793	3	1	25	1	0	0	0	0	1	0	0	0	118	1087	38	1	462	1	ACAP1	17	7246793	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	22240	7246793	73948417	1043	23479											
GUCY2D	3000	broad.mit.edu	37	chr17	7915631	7915631	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagagaaataaagctggactGgatgttcaagtcctccctcc	10	10	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:7915631G>C	uc002gjt.2	+	9	1993	c.1919G>C	c.(1918-1920)TGG>TCG	p.W640S		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	640	Protein kinase.|Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				AAGCTGGACTGGATGTTCAAG	0.617													C	7915631	G	C	7915631	3	2	25	1	0	0	0	0	1	0	0	0	6897	1357	47	5	1949	5	GUCY2D	17	7915631	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	668838	7915631	73279579	1044	23480											
ARHGEF15	22899	broad.mit.edu	37	chr17	8224243	8224243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgaaaggaggaggcaccttCgccagaaccagaggcttctc	12	12	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:8224243C>T	uc002glc.2	+	16	2579	c.2458C>T	c.(2458-2460)CGC>TGC	p.R820C	ARHGEF15_uc002gld.2_Missense_Mutation_p.R820C|ARHGEF15_uc010vuw.1_Missense_Mutation_p.R709C	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	820					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						GAGGCACCTTCGCCAGAACCA	0.612													T	8224243	C	T	8224243	3	4	25	1	0	0	0	0	1	0	0	0	898	884	31	1	2516	1	ARHGEF15	17	8224243	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	308612	8224243	72970967	1045	23481											
MYH10	4628	broad.mit.edu	37	chr17	8409746	8409746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggtcggtcgtctccccGtcgagttttcttttggcctt	11	12	2	0	rs138732743	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:8409746G>A	uc002gll.2	-	25	3279	c.3183C>T	c.(3181-3183)GAC>GAT	p.D1061D	MYH10_uc002glm.2_Silent_p.D1092D|MYH10_uc010cnx.2_Silent_p.D1070D	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1061	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						TCGTCTCCCCGTCGAGTTTTC	0.527													A	8409746	G	A	8409746	2	1	25	1	0	0	0	0	0	0	0	1	10030	1136	40	1		1	MYH10	17	8409746	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	185503	8409746	72785464	1046	23482											
MYH10	4628	broad.mit.edu	37	chr17	8508243	8508243	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catttcaataatattctcagAgtaaattggaagattcttgt	6	5	3	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:8508243A>C	uc002gll.2	-	3	499	c.403T>G	c.(403-405)TCT>GCT	p.S135A	MYH10_uc002glm.2_Missense_Mutation_p.S135A|MYH10_uc010cnx.2_Missense_Mutation_p.S135A	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	135	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						ATATTCTCAGAGTAAATTGGA	0.343													C	8508243	A	C	8508243	3	2	25	1	0	0	0	0	1	0	0	0	10030	304	11	5	5683	5	MYH10	17	8508243	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	98497	8508243	72686967	1047	23483											
MYH3	4621	broad.mit.edu	37	chr17	10546233	10546233	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgtactcctcctgctcCagcacgaacatgtggtggtt	9	12	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:10546233C>T	uc002gmq.1	-	14	1568	c.1491G>A	c.(1489-1491)CTG>CTA	p.L497L		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	497	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						CCTCCTGCTCCAGCACGAACA	0.468													T	10546233	C	T	10546233	2	4	25	1	0	0	0	0	0	0	0	1	10036	581	21	4		4	MYH3	17	10546233	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2037990	10546233	70648977	1048	23484											
RICH2	9912	broad.mit.edu	37	chr17	12893457	12893457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtaactgacaagagggactCggaggaggagtctgagagca	16	6	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:12893457C>T	uc002gnr.3	+	21	2753	c.2426C>T	c.(2425-2427)TCG>TTG	p.S809L	RICH2_uc010vvk.1_3'UTR|RICH2_uc010vvl.1_3'UTR|RICH2_uc002gns.3_3'UTR|RICH2_uc010vvm.1_Missense_Mutation_p.S803L|RICH2_uc010vvn.1_RNA	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	809					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						AAGAGGGACTCGGAGGAGGAG	0.612													T	12893457	C	T	12893457	3	4	25	1	0	0	0	0	1	0	0	0	13357	893	31	1	2508	1	RICH2	17	12893457	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2347224	12893457	68301753	1049	23485											
TRIM16	10626	broad.mit.edu	37	chr17	15554406	15554406	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggtccccaagcactcaccTccttgtccctgcgggctgca	9	17	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:15554406T>C	uc002gox.2	-	4	1075	c.518A>G	c.(517-519)GAG>GGG	p.E173G	TRIM16_uc002gor.1_Missense_Mutation_p.E173G|TRIM16_uc002goy.2_Intron	NM_006470	NP_006461	O95361	TRI16_HUMAN	tripartite motif-containing 16	173	Potential.				histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding			ovary(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		AGCACTCACCTCCTTGTCCCT	0.612													C	15554406	T	C	15554406	3	2	25	1	0	0	0	0	1	0	0	0	16488	1565	54	3	1200	3	TRIM16	17	15554406	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	2660949	15554406	65640804	1050	23486											
NCOR1	9611	broad.mit.edu	37	chr17	15971388	15971388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccctctgggtaggggtcaGtgtcgatttcctttcatgat	11	9	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:15971388G>A	uc002gpo.2	-	32	4801	c.4561C>T	c.(4561-4563)CTG>TTG	p.L1521L	NCOR1_uc002gpn.2_Silent_p.L1537L|NCOR1_uc002gpm.2_Silent_p.L42L|NCOR1_uc010vwb.1_Silent_p.L105L|NCOR1_uc010coy.2_Silent_p.L429L|NCOR1_uc010vwc.1_Silent_p.L332L	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1521	Interaction with ETO.|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTAGGGGTCAGTGTCGATTTC	0.473													A	15971388	G	A	15971388	2	1	25	1	0	0	0	0	0	0	0	1	10235	1020	36	4		4	NCOR1	17	15971388	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	416982	15971388	65223822	1051	23487											
NCOR1	9611	broad.mit.edu	37	chr17	16068428	16068428	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatctccacatggttgcccCgaaattggagaggatggagc	12	10	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:16068428C>T	uc002gpo.2	-	5	723	c.483G>A	c.(481-483)TCG>TCA	p.S161S	NCOR1_uc002gpn.2_Silent_p.S161S|NCOR1_uc002gpp.1_Silent_p.S52S|NCOR1_uc002gpr.2_Silent_p.S52S|NCOR1_uc002gps.1_Silent_p.S161S|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Silent_p.S161S|NCOR1_uc010cpa.1_Silent_p.S161S|NCOR1_uc002gpu.2_Silent_p.S161S	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	161	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATGGTTGCCCCGAAATTGGAG	0.393													T	16068428	C	T	16068428	2	4	25	1	0	0	0	0	0	0	0	1	10235	639	23	1		1	NCOR1	17	16068428	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	97040	16068428	65126782	1052	23488											
DRG2	1819	broad.mit.edu	37	chr17	18002386	18002386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaatcattgaaggcgcagCccaaggtgggaggcagggca	17	8	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:18002386C>T	uc002gsh.1	+	4	426	c.371C>T	c.(370-372)GCC>GTC	p.A124V	DRG2_uc010vxg.1_Missense_Mutation_p.A124V|DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.A124V	NM_001388	NP_001379	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	124	G.				signal transduction		GTP binding			ovary(1)	1	all_neural(463;0.228)					GAAGGCGCAGCCCAAGGTGGG	0.547													T	18002386	C	T	18002386	3	4	25	1	0	0	0	0	1	0	0	0	4762	739	26	2	385	2	DRG2	17	18002386	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1933958	18002386	63192824	1053	23489											
B9D1	27077	broad.mit.edu	37	chr17	19263639	19263639	+	Frame_Shift_Del	DEL	G	G	-													agagtccagcttaccgctgtGggggcccagtcctggccgta							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:19263638_19263638TG>T	uc010vys.2	-	1	291	c.279_279CA>A	c.(277-279)ccafs	p.P93fs	B9D1_uc010cqm.1_Frame_Shift_Del_p.P18fs|B9D1_uc002gvk.4_Frame_Shift_Del_p.T43fs|B9D1_uc010vyr.2_Frame_Shift_Del_p.P62fs|B9D1_uc010cqn.2_Frame_Shift_Del_p.P93fs	NM_001243473	NP_001230402	Q9UPM9	B9D1_HUMAN	Homo sapiens B9 protein domain 1 (B9D1), transcript variant 1, mRNA.	0	B9.				cilium assembly	centrosome|microtubule basal body	protein binding			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CTTACCGCTGTGGGGGCCCAG	0.498													-	19263639	G	-	19263639	7	5	25	1	0	1	0	1	0	0	0	0	1277	1335	47	0	512	0	B9D1	17	19263639	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	1261253	19263639	61931571	1054	23490											
ALDH3A1	218	broad.mit.edu	37	chr17	19646567	19646567	+	Frame_Shift_Del	DEL	G	G	-													gcagcgatggcgcccaccatGggctggatggtgaggttgaa							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:19646566_19646566TG>T	uc002gwk.3	-	1	386	c.123_123CA>A	c.(121-123)ccafs	p.P41fs	ALDH3A1_uc010cqu.3_Frame_Shift_Del_p.M125fs|ALDH3A1_uc010vzd.2_Frame_Shift_Del_p.M125fs|ALDH3A1_uc002gwj.3_Frame_Shift_Del_p.M125fs|ALDH3A1_uc010cqv.3_Frame_Shift_Del_p.M125fs|ALDH3A1_uc002gwl.1_Frame_Shift_Del_p.M52fs			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	329					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GCGCCCACCATGGGCTGGATG	0.652													-	19646567	G	-	19646567	7	5	25	1	0	1	0	1	0	0	0	0	497	1335	47	0	1025	0	ALDH3A1	17	19646567	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	382928	19646567	61548643	1055	23491											
TNFAIP1	7126	broad.mit.edu	37	chr17	26669336	26669336	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctctccctgcgcttcaaCggccgcgtgctcttcatcaa	8	16	5	0	rs77434228	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:26669336C>T	uc002hax.1	+	6	601	c.582C>T	c.(580-582)AAC>AAT	p.N194N	TNFAIP1_uc002hay.2_Silent_p.N194N|TNFAIP1_uc010waf.1_Silent_p.N90N	NM_021137	NP_066960	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1	194					apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity				0	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TGCGCTTCAACGGCCGCGTGC	0.547													T	26669336	C	T	26669336	2	4	25	1	0	0	0	0	0	0	0	1	16269	535	19	1		1	TNFAIP1	17	26669336	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	7022769	26669336	54525874	1056	23492											
KIAA0100	9703	broad.mit.edu	37	chr17	26951282	26951282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaattcaataaggcagtttCggttgtatatgtcatccgtc	8	9	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:26951282C>T	uc002hbu.2	-	25	4820	c.4721G>A	c.(4720-4722)CGA>CAA	p.R1574Q	KIAA0100_uc002hbt.2_5'Flank	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1574						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					AAGGCAGTTTCGGTTGTATAT	0.458													T	26951282	C	T	26951282	3	4	25	1	0	0	0	0	1	0	0	0	8154	884	31	1	2046	1	KIAA0100	17	26951282	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	281946	26951282	54243928	1057	23493											
NF1	4763	broad.mit.edu	37	chr17	29677244	29677244	+	Frame_Shift_Del	DEL	A	A	-													gttcgaagtcgctgcagcctAaaacatagaaagtcacttct							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:29677243_29677243TA>T	uc002hgg.3	+	49	7747	c.7364_7364TA>T	c.(7363-7365)ctafs	p.L2455fs	NF1_uc002hgh.3_Frame_Shift_Del_p.L2434fs|NF1_uc010cso.3_Frame_Shift_Del_p.L643fs|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2455					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CGCTGCAGCCTAAAACATAGA	0.363			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29677244	A	-	29677244	7	5	25	1	0	1	0	1	0	0	0	0	10356	349	13	0	7624	0	NF1	17	29677244	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	2725962	29677244	51517966	1058	23494											
NF1	4763	broad.mit.edu	37	chr17	29683984	29683985	+	Frame_Shift_Del	DEL	AG	AG	-													ctatcttgctgcagaaactcAgaggatttcctcatcacaac							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:29683983_29683984CAG>C	uc002hgg.3	+	52	8127_8128	c.7744_7745CAG>C	c.(7744-7746)cagfs	p.Q2582fs	NF1_uc002hgh.3_Frame_Shift_Del_p.Q2561fs|NF1_uc010cso.3_Frame_Shift_Del_p.Q770fs|NF1_uc010wbt.1_Frame_Shift_Del_p.Q60fs|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2582					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGCAGAAACTCAGAGGATTTCC	0.371			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29683985	AG	-	29683984	7	5	25	1	0	1	0	1	0	0	0	0	10356	188	7	0	8016	0	NF1	17	29683984	Frame_Shift_Del	DEL	AG	TCGA-BR-4370-01A-01D-1158-08	6740	29683984	51511226	1059	23495											
LHX1	3975	broad.mit.edu	37	chr17	35298059	35298059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccaagcggcggggaccgCgcaccaccatcaaagccaag	13	16	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:35298059C>T	uc002hnh.1	+	3	1546	c.550C>T	c.(550-552)CGC>TGC	p.R184C	LHX1_uc010cux.1_Missense_Mutation_p.R92C	NM_005568	NP_005559	P48742	LHX1_HUMAN	LIM homeobox protein 1	184	Homeobox.			R -> G (in Ref. 1; AAA21644).	cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(25;0.00607)				GCGGGGACCGCGCACCACCAT	0.662													T	35298059	C	T	35298059	3	4	25	1	0	0	0	0	1	0	0	0	8770	768	27	1	560	1	LHX1	17	35298059	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	5614075	35298059	45897151	1060	23496											
MLLT6	4302	broad.mit.edu	37	chr17	36869018	36869018	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccccagcatcctcaccccGcccgtggtccccactgctga	7	23	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:36869018G>A	uc002hqi.3	+	8	808	c.795G>A	c.(793-795)CCG>CCA	p.P265P	MLLT6_uc010wdr.1_Silent_p.P265P|MLLT6_uc010cvm.1_Silent_p.P265P|MLLT6_uc002hqj.2_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	265					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					TCCTCACCCCGCCCGTGGTCC	0.617			T	MLL	AL								A	36869018	G	A	36869018	2	1	25	1	0	0	0	0	0	0	0	1	9630	1074	38	1		1	MLLT6	17	36869018	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1570959	36869018	44326192	1061	23497											
CDK12	51755	broad.mit.edu	37	chr17	37686960	37686960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgaaggcgatctttccagCgccccccaggagttgaaccc	11	14	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:37686960C>T	uc010cvv.2	+	14	4450	c.3864C>T	c.(3862-3864)AGC>AGT	p.S1288S	CDK12_uc002hrw.3_Silent_p.S1279S	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	1288					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						ATCTTTCCAGCGCCCCCCAGG	0.642										TCGA Ovarian(9;0.13)			T	37686960	C	T	37686960	2	4	25	1	0	0	0	0	0	0	0	1	3128	767	27	1		1	CDK12	17	37686960	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	817942	37686960	43508250	1062	23498											
ERBB2	2064	broad.mit.edu	37	chr17	37864636	37864636	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtgaggcaggtcccactGcagaggctgcggattgtgcg	16	10	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:37864636G>A	uc002hso.2	+	3	526	c.288G>A	c.(286-288)CTG>CTA	p.L96L	ERBB2_uc002hsm.2_Silent_p.L66L|ERBB2_uc010cwa.2_Silent_p.L81L|ERBB2_uc002hsp.2_5'UTR|ERBB2_uc010cwb.2_Silent_p.L96L|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Silent_p.L66L|ERBB2_uc002hsn.1_Silent_p.L96L	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	96	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	AGGTCCCACTGCAGAGGCTGC	0.582		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			A	37864636	G	A	37864636	2	1	25	1	0	0	0	0	0	0	0	1	5206	1306	46	2		2	ERBB2	17	37864636	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	177676	37864636	43330574	1063	23499											
ERBB2	2064	broad.mit.edu	37	chr17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctttctacggacgtgggatCctgcaccctcgtctgccccc	9	18	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:37868208C>T	uc002hso.2	+	8	1167	c.929C>T	c.(928-930)TCC>TTC	p.S310F	ERBB2_uc002hsm.2_Missense_Mutation_p.S280F|ERBB2_uc010cwa.2_Missense_Mutation_p.S295F|ERBB2_uc002hsp.2_Missense_Mutation_p.S113F|ERBB2_uc010cwb.2_Missense_Mutation_p.S310F|ERBB2_uc010wek.1_Missense_Mutation_p.S34F|ERBB2_uc002hsl.2_Missense_Mutation_p.S280F|ERBB2_uc002hsn.1_Missense_Mutation_p.S310F	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	310	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(2)|p.S310Y(1)		lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			T	37868208	C	T	37868208	3	4	25	1	0	0	0	0	1	0	0	0	5206	855	30	4	959	4	ERBB2	17	37868208	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3572	37868208	43327002	1064	23500											
TMEM99	147184	broad.mit.edu	37	chr17	38991373	38991373	+	Frame_Shift_Del	DEL	T	T	-													cttctgcttaatattgggtaTttttttgttttgttttgttt							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:38991372_38991372AT>A	uc021txc.1	+	2	903	c.604_604AT>A	c.(604-606)attfs	p.I202fs	TMEM99_uc002hvj.1_Frame_Shift_Del_p.I202fs|TMEM99_uc021txd.1_Frame_Shift_Del_p.I202fs|TMEM99_uc021txe.1_Frame_Shift_Del_p.I202fs	NM_001195387	NP_001182316	Q8N816	TMM99_HUMAN	Homo sapiens transmembrane protein 99 (TMEM99), transcript variant 3, mRNA.	202						integral to membrane				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				AATATTGGGTATTTttttgtt	0.368													-	38991373	T	-	38991373	7	5	25	1	0	1	0	1	0	0	0	0	16223	1493	52	0	607	0	TMEM99	17	38991373	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	1123165	38991373	42203837	1065	23501											
KRT31	3881	broad.mit.edu	37	chr17	39550390	39550390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgatgggcttgctgcacgCgttggtcgtggcacagggat	16	10	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:39550390C>T	uc002hwn.2	-	7	1182	c.1129G>A	c.(1129-1131)GCG>ACG	p.A377T	KRT31_uc010cxn.2_3'UTR	NM_002277	NP_002268	Q15323	K1H1_HUMAN	keratin 31	377	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000496)				TTGCTGCACGCGTTGGTCGTG	0.562													T	39550390	C	T	39550390	3	4	25	1	0	0	0	0	1	0	0	0	8467	768	27	1	125	1	KRT31	17	39550390	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	559017	39550390	41644820	1066	23502											
KRT32	3882	broad.mit.edu	37	chr17	39623344	39623344	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccggggcccatggagccGgagatgccactggctgcctg	16	14	0	1	rs142587865		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:39623344G>A	uc002hwr.2	-	1	295	c.234C>T	c.(232-234)TCC>TCT	p.S78S		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32	78	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)				CCATGGAGCCGGAGATGCCAC	0.612													A	39623344	G	A	39623344	2	1	25	1	0	0	0	0	0	0	0	1	8468	1103	39	1		1	KRT32	17	39623344	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	72954	39623344	41571866	1067	23503											
CNP	1267	broad.mit.edu	37	chr17	40125660	40125660	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctgccgcgggggagccgCgcccacatcaccctcggctg	13	18	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:40125660C>T	uc002hyl.1	+	4	1128	c.984C>T	c.(982-984)CGC>CGT	p.R328R	CNP_uc010wfz.1_Silent_p.R205R|CNP_uc002hym.1_Silent_p.R308R|CNP_uc010wga.1_Silent_p.R93R|CNP_uc002hyn.1_Silent_p.R93R	NM_033133	NP_149124	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	328					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding				0		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GGGGGAGCCGCGCCCACATCA	0.657													T	40125660	C	T	40125660	2	4	25	1	0	0	0	0	0	0	0	1	3626	755	27	1		1	CNP	17	40125660	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	502316	40125660	41069550	1068	23504											
NAGLU	4669	broad.mit.edu	37	chr17	40695053	40695053	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgtccacagtggatacTgaggctgtgtggctgctcca	12	12	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:40695053T>C	uc002hzv.2	+	6	1369	c.1029T>C	c.(1027-1029)ACT>ACC	p.T343T		NM_000263	NP_000254	P54802	ANAG_HUMAN	alpha-N-acetylglucosaminidase precursor	343						lysosome	alpha-N-acetylglucosaminidase activity				0		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CAGTGGATACTGAGGCTGTGT	0.617													C	40695053	T	C	40695053	2	2	25	1	0	0	0	0	0	0	0	1	10143	1567	55	3		3	NAGLU	17	40695053	Silent	SNP	T	TCGA-BR-4370-01A-01D-1158-08	569393	40695053	40500157	1069	23505											
TUBG2	27175	broad.mit.edu	37	chr17	40815027	40815027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccatcgctgggggtacgGgttctggcctgggctcctac	14	13	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:40815027G>A	uc010wgr.1	+	5	692	c.436G>A	c.(436-438)GGT>AGT	p.G146S	TUBG2_uc002iaq.2_5'UTR|TUBG2_uc002iar.2_Intron|TUBG2_uc002ias.2_5'UTR|TUBG2_uc002iap.2_Intron	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	146	GTP (Potential).				G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		TGGGGGTACGGGTTCTGGCCT	0.418													A	40815027	G	A	40815027	3	1	25	1	0	0	0	0	1	0	0	0	16762	1232	43	4	454	4	TUBG2	17	40815027	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	119974	40815027	40380183	1070	23506											
WNK4	65266	broad.mit.edu	37	chr17	40939467	40939467	+	Frame_Shift_Del	DEL	C	C	-													ctgtgcccatggcccccggtCcccccagtgtcttcccccct							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:40939466_40939466TC>T	uc002ibj.3	+	6	1715	c.1647_1647TC>T	c.(1645-1647)ggtfs	p.G549fs	WNK4_uc010wgx.2_Frame_Shift_Del_p.G213fs|WNK4_uc002ibk.1_Frame_Shift_Del_p.G321fs|WNK4_uc010wgy.1_5'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	549					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TGGCCCCCGGTCCCCCCAGTG	0.612													-	40939467	C	-	40939467	7	5	25	1	0	1	0	1	0	0	0	0	17377	855	30	0	1674	0	WNK4	17	40939467	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	124440	40939467	40255743	1071	23507											
WNK4	65266	broad.mit.edu	37	chr17	40939916	40939916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcccatctctgcctgccctCggtgagagggggtcgcatgg	15	13	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:40939916C>T	uc002ibj.2	+	8	1883	c.1862C>T	c.(1861-1863)TCG>TTG	p.S621L	WNK4_uc010wgx.1_Missense_Mutation_p.S285L|WNK4_uc002ibk.1_Missense_Mutation_p.S393L|WNK4_uc010wgy.1_Intron	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	621					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TGCCTGCCCTCGGTGAGAGGG	0.627													T	40939916	C	T	40939916	3	4	25	1	0	0	0	0	1	0	0	0	17377	898	31	1	1892	1	WNK4	17	40939916	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	449	40939916	40255294	1072	23508											
TMUB2	79089	broad.mit.edu	37	chr17	42267869	42267869	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtctttcatccttacagCaaatacttccctggacaaga	5	12	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:42267869C>T	uc002ifo.2	+	4	760	c.603C>T	c.(601-603)AGC>AGT	p.S201S	TMUB2_uc002ifp.2_Silent_p.S181S|TMUB2_uc010wiu.1_Silent_p.S144S|TMUB2_uc002ifq.2_Silent_p.S201S|TMUB2_uc002ifr.2_Missense_Mutation_p.A85V|TMUB2_uc002ifs.2_Silent_p.S32S|TMUB2_uc002ift.2_Silent_p.S181S|TMUB2_uc002ifu.2_Missense_Mutation_p.A85V|TMUB2_uc002ifv.2_Silent_p.S181S|TMUB2_uc002ifx.2_Missense_Mutation_p.A85V|TMUB2_uc002ify.2_RNA	NM_001076674	NP_001070142	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain	201	Ubiquitin-like.					integral to membrane				lung(1)	1		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ATCCTTACAGCAAATACTTCC	0.507													T	42267869	C	T	42267869	2	4	25	1	0	0	0	0	0	0	0	1	16262	724	25	2		2	TMUB2	17	42267869	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1327953	42267869	38927341	1073	23509											
C17orf46	124783	broad.mit.edu	37	chr17	43332952	43332952	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcctcggagcacagggcGttggtggggatggcctcccg	17	12	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:43332952G>A	uc002iis.1	-	4	693	c.597C>T	c.(595-597)AAC>AAT	p.N199N	LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Silent_p.N178N	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	hypothetical protein LOC124783	199				TN -> SK (in Ref. 2; AAP97314).						large_intestine(1)|ovary(1)	2						AGCACAGGGCGTTGGTGGGGA	0.647													A	43332952	G	A	43332952	2	1	25	1	0	0	0	0	0	0	0	1	1857	1136	40	1		1	C17orf46	17	43332952	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1065083	43332952	37862258	1074	23510											
KIAA1267	284058	broad.mit.edu	37	chr17	44108963	44108963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcttgctgcctgaggtgCgtcgagtgcagcgggctgct	16	11	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:44108963C>T	uc002ikb.2	-	14	3282	c.3197G>A	c.(3196-3198)CGC>CAC	p.R1066H	KIAA1267_uc002ikc.2_Missense_Mutation_p.R1066H|KIAA1267_uc002ikd.2_Missense_Mutation_p.R1066H|KIAA1267_uc010dav.2_Missense_Mutation_p.R1065H|KIAA1267_uc010wkb.1_Missense_Mutation_p.R397H|KIAA1267_uc010wkc.1_Missense_Mutation_p.R334H	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	1066						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				GCCTGAGGTGCGTCGAGTGCA	0.687													T	44108963	C	T	44108963	3	4	25	1	0	0	0	0	1	0	0	0	8219	768	27	1	124	1	KIAA1267	17	44108963	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	776011	44108963	37086247	1075	23511											
NSF	4905	broad.mit.edu	37	chr17	44827207	44827207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagatggaaatgcttaaCgctttcagcaccaccatcca	8	12	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:44827207C>T	uc002iku.2	+	18	2081	c.1977C>T	c.(1975-1977)AAC>AAT	p.N659N	NSF_uc010wke.1_Silent_p.N565N|NSF_uc010wkf.1_Silent_p.N565N|NSF_uc010wkg.1_Silent_p.N654N	NM_006178	NP_006169	P46459	NSF_HUMAN	vesicle-fusing ATPase	659					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			ovary(1)	1		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		AAATGCTTAACGCTTTCAGCA	0.458													T	44827207	C	T	44827207	2	4	25	1	0	0	0	0	0	0	0	1	10671	535	19	1		1	NSF	17	44827207	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	718244	44827207	36368003	1076	23512											
C17orf57	124989	broad.mit.edu	37	chr17	45412715	45412716	+	Frame_Shift_Ins	INS	-	-	A													gagtttgagcccagaatataINSaaaaaatgtaagttaaaaac							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:45412714_45412715T>TA	uc002iln.3	+	4	614_615	c.183_184T>TA	c.(181-186)tataaafs	p.Y61fs	ITGB3_uc010wkr.1_Non-coding_Transcript|C17orf57_uc002ilm.3_Frame_Shift_Ins_p.Y61fs|C17orf57_uc002ill.1_5'UTR|C17orf57_uc010daz.1_Frame_Shift_Ins_p.Y61fs	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	61							calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						GCCCAGAATATAAAAAAATGTA	0.312													A	45412716	-	A	45412715	7	5	25	1	0	1	1	0	0	0	0	0	1865	363	13	0	190	0	C17orf57	17	45412715	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	585508	45412715	35782495	1077	23513											
TBKBP1	9755	broad.mit.edu	37	chr17	45773500	45773500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagtccatgttcgaggacGacatcagcatcctgacgcag	12	11	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:45773500G>A	uc002ilu.2	+	1	871	c.22G>A	c.(22-24)GAC>AAC	p.D8N		NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	8					innate immune response						0						GTTCGAGGACGACATCAGCAT	0.677													A	45773500	G	A	45773500	3	1	25	1	0	0	0	0	1	0	0	0	15635	1058	37	1	24	1	TBKBP1	17	45773500	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	360785	45773500	35421710	1078	23514											
ZNF652	22834	broad.mit.edu	37	chr17	47394293	47394293	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatgcgcctatgagtaacGttcatgtgcttctccaggta	10	10	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:47394293G>A	uc002iov.3	-	2	1259	c.795C>T	c.(793-795)AAC>AAT	p.N265N	ZNF652_uc002iow.2_Silent_p.N265N|ZNF652_uc002iou.3_Intron	NM_001145365	NP_001138837	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	265	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TATGAGTAACGTTCATGTGCT	0.463													A	47394293	G	A	47394293	2	1	25	1	0	0	0	0	0	0	0	1	18062	1136	40	1		1	ZNF652	17	47394293	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1620793	47394293	33800917	1079	23515											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917876	48917876	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttacaacagccagacgggCcagtgccagtcctttgtcta	10	13	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:48917876C>T	uc002isv.3	+	2	1921	c.1227C>T	c.(1225-1227)GGC>GGT	p.G409G	WFIKKN2_uc010dbu.2_Silent_p.G316G	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	409	BPTI/Kunitz inhibitor 2.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GCCAGACGGGCCAGTGCCAGT	0.672													T	48917876	C	T	48917876	2	4	25	1	0	0	0	0	0	0	0	1	17356	726	26	2		2	WFIKKN2	17	48917876	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1523583	48917876	32277334	1080	23516											
EPX	8288	broad.mit.edu	37	chr17	56274340	56274340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaagaaccagcgtgactGcatccctttcttccgctcgg	8	15	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:56274340G>A	uc002ivq.2	+	7	928	c.842G>A	c.(841-843)TGC>TAC	p.C281Y		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	281					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						CAGCGTGACTGCATCCCTTTC	0.547													A	56274340	G	A	56274340	3	1	25	1	0	0	0	0	1	0	0	0	5200	1319	46	2	868	2	EPX	17	56274340	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	7356464	56274340	24920870	1081	23517											
BZRAP1	9256	broad.mit.edu	37	chr17	56399703	56399703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctcctcctgcttctccCgtaggctgagccgagcctgt	11	16	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:56399703C>T	uc002ivx.3	-	10	2259	c.1388G>A	c.(1387-1389)CGG>CAG	p.R463Q	BZRAP1_uc010dcs.2_Missense_Mutation_p.R403Q|BZRAP1_uc010wnt.1_Missense_Mutation_p.R463Q	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	463						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGCTTCTCCCGTAGGCTGAG	0.592													T	56399703	C	T	56399703	3	4	25	1	0	0	0	0	1	0	0	0	1577	652	23	1	4273	1	BZRAP1	17	56399703	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	125363	56399703	24795507	1082	23518											
TANC2	26115	broad.mit.edu	37	chr17	61497863	61497863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcccaccacacacttcccCggctcatcagggaggatctt	8	16	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:61497863C>T	uc002jal.3	+	25	4543	c.4520C>T	c.(4519-4521)CCG>CTG	p.P1507L	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Missense_Mutation_p.P618L	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1507							binding			ovary(2)	2						CACACTTCCCCGGCTCATCAG	0.587													T	61497863	C	T	61497863	3	4	25	1	0	0	0	0	1	0	0	0	15542	652	23	1	4618	1	TANC2	17	61497863	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	5098160	61497863	19697347	1083	23519											
PSMC5	5705	broad.mit.edu	37	chr17	61907214	61907214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtctgtttgccatctagttCgcctattgcgggaggagcta	12	9	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:61907214C>T	uc002jcb.2	+	4	210	c.169C>T	c.(169-171)CGC>TGC	p.R57C	FTSJ3_uc002jbz.2_5'Flank|FTSJ3_uc002jca.2_5'Flank|PSMC5_uc010ddy.2_Missense_Mutation_p.R34C|PSMC5_uc010ddz.2_5'UTR|PSMC5_uc002jcc.2_Missense_Mutation_p.R49C|PSMC5_uc002jcd.2_Missense_Mutation_p.R49C	NM_002805	NP_002796	P62195	PRS8_HUMAN	proteasome 26S ATPase subunit 5	57					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			large_intestine(1)	1						CCATCTAGTTCGCCTATTGCG	0.507													T	61907214	C	T	61907214	3	4	25	1	0	0	0	0	1	0	0	0	12690	884	31	1	183	1	PSMC5	17	61907214	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	409351	61907214	19287996	1084	23520											
HELZ	9931	broad.mit.edu	37	chr17	65104752	65104752	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtatggagcgctgcccTgactgagaaaggcatgatgc	16	8	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:65104752T>C	uc010wqk.1	-	30	4770	c.4583A>G	c.(4582-4584)CAG>CGG	p.Q1528R	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.Q1527R|HELZ_uc010der.2_Missense_Mutation_p.Q71R	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGCGCTGCCCTGACTGAGAAA	0.562													C	65104752	T	C	65104752	3	2	25	1	0	0	0	0	1	0	0	0	7049	1580	55	3	1264	3	HELZ	17	65104752	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	3197538	65104752	16090458	1085	23521											
CDC42EP4	23580	broad.mit.edu	37	chr17	71282535	71282535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccaacgtgcatggtgtgGcggaagtcgcccagcggggc	18	12	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:71282535G>A	uc002jjn.2	-	2	252	c.105C>T	c.(103-105)CGC>CGT	p.R35R	CDC42EP4_uc002jjo.2_Silent_p.R35R|CDC42EP4_uc002jjp.1_Silent_p.R35R	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Cdc42 effector protein 4	35	CRIB.				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding				0			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GCATGGTGTGGCGGAAGTCGC	0.657													A	71282535	G	A	71282535	2	1	25	1	0	0	0	0	0	0	0	1	3078	1190	42	2		2	CDC42EP4	17	71282535	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	6177783	71282535	9912675	1086	23522											
BTBD17	388419	broad.mit.edu	37	chr17	72353578	72353578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcaccaggtccgagcGttgcaggagctgccagagca	14	13	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:72353578G>A	uc002jkn.2	-	3	655	c.655C>T	c.(655-657)CGC>TGC	p.R219C		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17 precursor	219	BACK.					extracellular region					0						AGGTCCGAGCGTTGCAGGAGC	0.731													A	72353578	G	A	72353578	3	1	25	1	0	0	0	0	1	0	0	0	1542	1145	40	1	785	1	BTBD17	17	72353578	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1071043	72353578	8841632	1087	23523											
HN1	51155	broad.mit.edu	37	chr17	73144759	73144759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatccaccacctggaggccGcaaaactctgcaaataatgg	10	12	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:73144759G>A	uc002jna.1	-	2	347	c.64C>T	c.(64-66)CGG>TGG	p.R22W	HN1_uc002jmz.1_5'UTR|HN1_uc002jnb.1_Missense_Mutation_p.R22W|HN1_uc010dgc.1_RNA|HN1_uc002jnc.2_RNA|HN1_uc002jnd.2_Missense_Mutation_p.R22W	NM_016185	NP_057269	Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	22						nucleus					0	all_lung(278;0.14)|Lung NSC(278;0.168)					CCTGGAGGCCGCAAAACTCTG	0.393													A	73144759	G	A	73144759	3	1	25	1	0	0	0	0	1	0	0	0	7249	1086	38	1	516	1	HN1	17	73144759	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	791181	73144759	8050451	1088	23524											
KIAA0195	9772	broad.mit.edu	37	chr17	73487842	73487842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttccaatgagcaggagcGtggcgactggcctggcgagg	16	11	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:73487842G>A	uc002jnz.3	+	14	1732	c.1457G>A	c.(1456-1458)CGT>CAT	p.R486H	KIAA0195_uc010wsa.1_Missense_Mutation_p.R496H|KIAA0195_uc010wsb.1_Missense_Mutation_p.R142H	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	486					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGCAGGAGCGTGGCGACTGG	0.617													A	73487842	G	A	73487842	3	1	25	1	0	0	0	0	1	0	0	0	8160	1145	40	1	1507	1	KIAA0195	17	73487842	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	343083	73487842	7707368	1089	23525											
RECQL5	9400	broad.mit.edu	37	chr17	73625157	73625158	+	Frame_Shift_Del	DEL	TG	TG	-													gggcaggcaccttctgcctcTggggctgatgccagcagagc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:73625156_73625157CTG>C	uc010dgl.3	-	15	2555_2556	c.2346_2347CAG>G	c.(2344-2349)ccagagfs	p.P782fs	RECQL5_uc010dgk.3_Frame_Shift_Del_p.P755fs|RECQL5_uc002jot.4_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	782					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCTTCTGCCTCTGGGGCTGATG	0.639								Other identified genes with known or suspected DNA repair function					-	73625158	TG	-	73625157	7	5	25	1	0	1	0	1	0	0	0	0	13203	1567	55	0	649	0	RECQL5	17	73625157	Frame_Shift_Del	DEL	TG	TCGA-BR-4370-01A-01D-1158-08	137315	73625157	7570053	1090	23526											
RECQL5	9400	broad.mit.edu	37	chr17	73658971	73658972	+	Frame_Shift_Ins	INS	-	-	T													cagaatcttggtctggggctINStttctcgctccaggtcagca							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:73658970_73658971C>CT	uc010dgl.3	-	3	568_569	c.359_360G>AG	c.(358-360)aagfs	p.K120fs	RECQL5_uc010dgk.3_Frame_Shift_Ins_p.K93fs|RECQL5_uc002joz.4_Frame_Shift_Ins_p.K120fs|RECQL5_uc002jpa.4_Frame_Shift_Ins_p.K120fs|RECQL5_uc002jpb.2_Frame_Shift_Ins_p.K120fs	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	120	Helicase ATP-binding.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGGTCTGGGGCTTTTCTCGCTC	0.55								Other identified genes with known or suspected DNA repair function					T	73658972	-	T	73658971	7	5	25	1	0	1	1	0	0	0	0	0	13203	1609	56	0	2771	0	RECQL5	17	73658971	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	33814	73658971	7536239	1091	23527											
GALK1	2584	broad.mit.edu	37	chr17	73761135	73761135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgacacggccagctcgGgctcggccccgaactcctcc	12	19	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:73761135G>A	uc010wsi.1	-	1	146	c.83C>T	c.(82-84)CCC>CTC	p.P28L	GALK1_uc002jpk.2_Missense_Mutation_p.P28L|GALK1_uc010wsj.1_Missense_Mutation_p.P28L	NM_000154	NP_000145	P51570	GALK1_HUMAN	galactokinase 1	28			P -> T (in GALCT2; founder Romani mutation).		galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding				0	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCCAGCTCGGGCTCGGCCCC	0.711													A	73761135	G	A	73761135	3	1	25	1	0	0	0	0	1	0	0	0	6203	1232	43	4	1127	4	GALK1	17	73761135	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	102164	73761135	7434075	1092	23528											
UNC13D	201294	broad.mit.edu	37	chr17	73840360	73840360	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactctgcggcgccttatcTtgatggcctggcgcaagaag	13	11	2	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:73840360T>C	uc002jpp.2	-	1	439	c.59A>G	c.(58-60)AAG>AGG	p.K20R	UNC13D_uc010wsk.1_Missense_Mutation_p.K20R|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_5'Flank	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	20					positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			upper_aerodigestive_tract(1)|skin(1)	2			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGCCTTATCTTGATGGCCTG	0.647									Familial_Hemophagocytic_Lymphohistiocytosis				C	73840360	T	C	73840360	3	2	25	1	0	0	0	0	1	0	0	0	16984	1609	56	3	3341	3	UNC13D	17	73840360	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	79225	73840360	7354850	1093	23529											
EVPL	2125	broad.mit.edu	37	chr17	74005204	74005204	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcgggcttcctcctctccAgcagcaggcgcttgctctgc	10	18	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:74005204A>G	uc002jqi.2	-	22	4310	c.4082T>C	c.(4081-4083)CTG>CCG	p.L1361P	EVPL_uc010wss.1_Missense_Mutation_p.L1383P|EVPL_uc010wst.1_Missense_Mutation_p.L831P	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1361	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CCTCCTCTCCAGCAGCAGGCG	0.692													G	74005204	A	G	74005204	3	3	25	1	0	0	0	0	1	0	0	0	5292	188	7	3	2023	3	EVPL	17	74005204	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	164844	74005204	7190006	1094	23530											
MGAT5B	146664	broad.mit.edu	37	chr17	74936837	74936837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcccagcatccctacgcGgagaacttcatcggcaagcc	8	16	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:74936837G>A	uc002jti.2	+	13	1885	c.1782G>A	c.(1780-1782)GCG>GCA	p.A594A	MGAT5B_uc002jth.2_Silent_p.A583A	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	N-acetylglucosaminyltranferase VB isoform 2	585	Lumenal (Potential).					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(2)|skin(1)	3						ATCCCTACGCGGAGAACTTCA	0.552													A	74936837	G	A	74936837	2	1	25	1	0	0	0	0	0	0	0	1	9549	1103	39	1		1	MGAT5B	17	74936837	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	931633	74936837	6258373	1095	23531											
SEC14L1	6397	broad.mit.edu	37	chr17	75196655	75196655	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatgtgtcagtctttgacGtggagaaagcagcatcaggt	12	7	4	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:75196655G>A	uc002jto.2	+	9	1176	c.909G>A	c.(907-909)ACG>ACA	p.T303T	SEC14L1_uc010dhc.2_Silent_p.T303T|SEC14L1_uc010wth.1_Silent_p.T303T|SEC14L1_uc002jtm.2_Silent_p.T303T|SEC14L1_uc010wti.1_Silent_p.T269T	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	303					transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						AGTCTTTGACGTGGAGAAAGC	0.463													A	75196655	G	A	75196655	2	1	25	1	0	0	0	0	0	0	0	1	13981	1132	40	1		1	SEC14L1	17	75196655	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	259818	75196655	5998555	1096	23532											
CHMP6	79643	broad.mit.edu	37	chr17	78972925	78972925	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtcaaggccaggcccaGgcaggcggagctggtggcag	17	13	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:78972925G>T	uc002jyw.3	+	8	656	c.578G>T	c.(577-579)AGG>ATG	p.R193M		NM_024591	NP_078867	Q96FZ7	CHMP6_HUMAN	chromatin modifying protein 6	193				Missing: Membrane association; releases autoinhibition.	cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			ovary(1)	1	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCCAGGCCCAGGCAGGCGGAG	0.617													T	78972925	G	T	78972925	3	4	25	1	0	0	0	0	1	0	0	0	3360	1000	35	5	608	5	CHMP6	17	78972925	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3776270	78972925	2222285	1097	23533											
AZI1	22994	broad.mit.edu	37	chr17	79164825	79164825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaccgctcctgaagcttcCgctccgactgctccagctcg	9	18	0	1	rs111464253		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:79164825C>T	uc002jzp.1	-	23	3034	c.2834G>A	c.(2833-2835)CGG>CAG	p.R945Q	AZI1_uc002jzm.1_Missense_Mutation_p.R377Q|AZI1_uc002jzn.1_Missense_Mutation_p.R942Q|AZI1_uc002jzo.1_Missense_Mutation_p.R906Q|AZI1_uc010wum.1_Missense_Mutation_p.R909Q|AZI1_uc002jzq.2_Missense_Mutation_p.R93Q	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	945					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTGAAGCTTCCGCTCCGACTG	0.672													T	79164825	C	T	79164825	3	4	25	1	0	0	0	0	1	0	0	0	1240	652	23	1	433	1	AZI1	17	79164825	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	191900	79164825	2030385	1098	23534											
GPS1	2873	broad.mit.edu	37	chr17	80014563	80014563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcagccttcaataccaCggtggccgccctggaggacg	15	14	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:80014563C>T	uc002kdl.1	+	11	1232	c.1187C>T	c.(1186-1188)ACG>ATG	p.T396M	GPS1_uc002kdk.1_Missense_Mutation_p.T432M|GPS1_uc010dij.1_Missense_Mutation_p.T431M|GPS1_uc002kdm.1_Missense_Mutation_p.T376M|GPS1_uc002kdn.1_Missense_Mutation_p.T392M|GPS1_uc002kdo.1_Missense_Mutation_p.T395M|GPS1_uc010wvh.1_Missense_Mutation_p.T388M	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	396	PCI.				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TTCAATACCACGGTGGCCGCC	0.637													T	80014563	C	T	80014563	3	4	25	1	0	0	0	0	1	0	0	0	6732	536	19	1	1386	1	GPS1	17	80014563	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	849738	80014563	1180647	1099	23535											
LPIN2	9663	broad.mit.edu	37	chr18	2922171	2922171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatgccgatggcacgagccGagcagtacagaaacttgtag	12	11	0	1	rs80338807		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:2922171G>A	uc002klo.2	-	17	2440	c.2201C>T	c.(2200-2202)TCG>TTG	p.S734L		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	lipin 2	734	C-LIP.		S -> L (in MAJEEDS).		fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			ovary(1)|skin(1)	2				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GGCACGAGCCGAGCAGTACAG	0.522													A	2922171	G	A	2922171	3	1	25	1	0	0	0	0	1	0	0	0	8919	1059	37	1	505	1	LPIN2	18	2922171	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08		2922171	75155077	1100	23536											
ARHGAP28	79822	broad.mit.edu	37	chr18	6890442	6890442	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccaggttccatctttctTaatcactcaagtaagaagaa	5	10	5	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:6890442T>C	uc010wzi.1	+	13	1455	c.1217T>C	c.(1216-1218)TTA>TCA	p.L406S	ARHGAP28_uc002knc.2_Missense_Mutation_p.L531S|ARHGAP28_uc002knd.2_Missense_Mutation_p.L424S|ARHGAP28_uc002kne.2_Missense_Mutation_p.L424S|ARHGAP28_uc002knf.2_Missense_Mutation_p.L415S			B4DXL2	B4DXL2_HUMAN	SubName: Full=Putative uncharacterized protein ARHGAP28;	406					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)				CCATCTTTCTTAATCACTCAA	0.468													C	6890442	T	C	6890442	3	2	25	1	0	0	0	0	1	0	0	0	877	1764	61	3	1317	3	ARHGAP28	18	6890442	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	3968271	6890442	71186806	1101	23537											
PTPRM	5797	broad.mit.edu	37	chr18	8394488	8394488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacaggaacgggggaggccGcagtgggacgttctgcgcca	18	11	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:8394488G>A	uc002knn.3	+	30	4687	c.4184G>A	c.(4183-4185)CGC>CAC	p.R1395H	PTPRM_uc010dkv.2_Missense_Mutation_p.R1408H|PTPRM_uc010wzl.1_Missense_Mutation_p.R1182H	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1395	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				GGGGGAGGCCGCAGTGGGACG	0.522													A	8394488	G	A	8394488	3	1	25	1	0	0	0	0	1	0	0	0	12806	1087	38	1	4349	1	PTPRM	18	8394488	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1504046	8394488	69682760	1102	23538											
CEP76	79959	broad.mit.edu	37	chr18	12678201	12678201	+	Frame_Shift_Del	DEL	G	G	-													gatgcacacagaggtggaaaGggaggaagggatgttgtagc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:12678200_12678200AG>A	uc002kri.3	-	9	1687	c.1531_1531CT>T	c.(1531-1533)tttfs	p.F511fs	PSMG2_uc002krg.3_Intron|CEP76_uc002krh.3_Frame_Shift_Del_p.F333fs|CEP76_uc010wzz.2_Frame_Shift_Del_p.F436fs	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	Homo sapiens centrosomal protein 76kDa (CEP76), mRNA.	511					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	p.P510P(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGAGGTGGAAAGGGAGGAAGG	0.443													-	12678201	G	-	12678201	7	5	25	1	0	1	0	1	0	0	0	0	3261	987	35	0	461	0	CEP76	18	12678201	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	4283713	12678201	65399047	1103	23539											
CEP192	55125	broad.mit.edu	37	chr18	13049146	13049146	+	Frame_Shift_Del	DEL	A	A	-													ttgatatggagaaataccttAaaaaaacagaagttagtaga							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:13049145_13049145TA>T	uc010xac.2	+	15	2435	c.2355_2355TA>T	c.(2353-2355)cttfs	p.L785fs	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Frame_Shift_Del_p.L310fs|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krs.1_Frame_Shift_Del_p.L526fs	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	380										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGAAATACCTTAAAAAAACAG	0.328													-	13049146	A	-	13049146	7	5	25	1	0	1	0	1	0	0	0	0	3251	363	13	0	2414	0	CEP192	18	13049146	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	370945	13049146	65028102	1104	23540											
C18orf19	125228	broad.mit.edu	37	chr18	13681933	13681933	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgtttttgagggccttgTaccaaaaccactttggattc	8	9	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:13681933T>C	uc010dlh.2	-	3	576	c.144A>G	c.(142-144)GTA>GTG	p.V48V	C18orf19_uc010dlg.2_Silent_p.V48V|C18orf19_uc010dli.2_Silent_p.V48V|C18orf19_uc002ksj.3_Silent_p.V48V|C18orf19_uc010dlj.2_Intron	NM_001098801	NP_001092271	Q96ND0	CR019_HUMAN	hypothetical protein LOC125228	48						integral to membrane				breast(2)	2						GAGGGCCTTGTACCAAAACCA	0.453													C	13681933	T	C	13681933	2	2	25	1	0	0	0	0	0	0	0	1	1896	1625	57	3		3	C18orf19	18	13681933	Silent	SNP	T	TCGA-BR-4370-01A-01D-1158-08	632787	13681933	64395315	1105	23541											
RNMT	8731	broad.mit.edu	37	chr18	13746253	13746253	+	Frame_Shift_Del	DEL	A	A	-													acaatatgaaactagtctacAaaaaaacatttctggaattc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:13746252_13746252CA>C	uc002ksk.1	+	7	1240	c.1173_1173CA>C	c.(1171-1173)tacfs	p.Y391fs	RNMT_uc002ksl.1_Frame_Shift_Del_p.Y391fs|RNMT_uc002ksm.1_Frame_Shift_Del_p.Y391fs|RNMT_uc010dlk.2_Frame_Shift_Del_p.Y391fs|RNMT_uc010xae.1_Non-coding_Transcript	NM_003799	NP_003790	O43148	MCES_HUMAN	Homo sapiens RNA (guanine-7-) methyltransferase (RNMT), mRNA.	391					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	RNA binding|mRNA (guanine-N7-)-methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						AACTAGTCTACAAAAAAACAT	0.303													-	13746253	A	-	13746253	7	5	25	1	0	1	0	1	0	0	0	0	13506	131	5	0	1200	0	RNMT	18	13746253	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	64320	13746253	64330995	1106	23542											
RIOK3	8780	broad.mit.edu	37	chr18	21046208	21046208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagaacgtcgaagtgccCgcctacatgagaaaaaggag	12	9	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:21046208C>T	uc002kui.3	+	6	1272	c.655C>T	c.(655-657)CGC>TGC	p.R219C	RIOK3_uc010dls.2_Missense_Mutation_p.R219C|RIOK3_uc010xas.1_Missense_Mutation_p.R203C|RIOK3_uc010xat.1_Silent_p.P10P	NM_003831	NP_003822	O14730	RIOK3_HUMAN	sudD suppressor of bimD6 homolog	219					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCGAAGTGCCCGCCTACATGA	0.333													T	21046208	C	T	21046208	3	4	25	1	0	0	0	0	1	0	0	0	13379	652	23	1	677	1	RIOK3	18	21046208	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	7299955	21046208	57031040	1107	23543											
ZNF521	25925	broad.mit.edu	37	chr18	22804764	22804764	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttttgcatgtggaacgTcccatggattttgagttcca	10	8	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:22804764T>C	uc002kvk.2	-	4	3365	c.3118A>G	c.(3118-3120)ACG>GCG	p.T1040A	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.T1040A|ZNF521_uc002kvl.2_Missense_Mutation_p.T820A	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	1040	C2H2-type 24.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ATGTGGAACGTCCCATGGATT	0.527			T	PAX5	ALL								C	22804764	T	C	22804764	3	2	25	1	0	0	0	0	1	0	0	0	17962	1667	58	3	837	3	ZNF521	18	22804764	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	1758556	22804764	55272484	1108	23544											
DSG3	1830	broad.mit.edu	37	chr18	29040811	29040811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attagcaagctagcagctatCgtctggttgtgagtggtgca	13	7	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:29040811C>T	uc002kws.2	+	7	809	c.700C>T	c.(700-702)CGT>TGT	p.R234C		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	234	Extracellular (Potential).|Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAGCAGCTATCGTCTGGTTGT	0.338													T	29040811	C	T	29040811	3	4	25	1	0	0	0	0	1	0	0	0	4778	884	31	1	726	1	DSG3	18	29040811	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	6236047	29040811	49036437	1109	23545											
FAM59A	64762	broad.mit.edu	37	chr18	29972872	29972872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttacctgcataatgtaccGgaatctctatctttggccca	6	12	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:29972872G>A	uc002kxl.2	-	2	304	c.248C>T	c.(247-249)CCG>CTG	p.P83L	FAM59A_uc002kxk.1_Missense_Mutation_p.P83L	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	83	CABIT.									ovary(1)|skin(1)	2						ATAATGTACCGGAATCTCTAT	0.478													A	29972872	G	A	29972872	3	1	25	1	0	0	0	0	1	0	0	0	5592	1116	39	1	2399	1	FAM59A	18	29972872	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	932061	29972872	48104376	1110	23546											
KIAA1328	57536	broad.mit.edu	37	chr18	34647208	34647208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgtggtcatagacttgCtgcagatcgtgttcatgaca	11	8	2	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:34647208C>T	uc002kzz.2	+	7	954	c.932C>T	c.(931-933)GCT>GTT	p.A311V	KIAA1328_uc002lab.2_Missense_Mutation_p.A27V|KIAA1328_uc002lac.1_Missense_Mutation_p.A134V|KIAA1328_uc010dnc.1_RNA|KIAA1328_uc002lad.2_Missense_Mutation_p.A27V	NM_020776	NP_065827	Q86T90	K1328_HUMAN	hypothetical protein LOC57536	311										central_nervous_system(1)	1				COAD - Colon adenocarcinoma(74;0.195)		CATAGACTTGCTGCAGATCGT	0.458													T	34647208	C	T	34647208	3	4	25	1	0	0	0	0	1	0	0	0	8225	797	28	2	958	2	KIAA1328	18	34647208	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	4674336	34647208	43430040	1111	23547											
SYT4	6860	broad.mit.edu	37	chr18	40857246	40857246	+	Frame_Shift_Del	DEL	T	T	-													gctggtggtgatcggagccaTtttttactgcgtgttctgtc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:40857245_40857245AT>A	uc002law.3	-	0	371	c.2_2AT>T	c.(1-3)atgfs	p.M1fs	SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Frame_Shift_Del_p.M1fs	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	1						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GATCGGAGCCATTTTTTACTG	0.493													-	40857246	T	-	40857246	7	5	25	1	0	1	0	1	0	0	0	0	15473	1493	52	0	1292	0	SYT4	18	40857246	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	6210038	40857246	37220002	1112	23548											
SETBP1	26040	broad.mit.edu	37	chr18	42533200	42533201	+	Frame_Shift_Ins	INS	-	-	A													cagtgacgtgagtgggagtaINSaaaggaggagctatgaaggc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:42533199_42533200T>TA	uc010dni.3	+	3	4190_4191	c.3894_3895T>TA	c.(3892-3897)agtaaafs	p.S1298fs		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	1298						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGAGTGGGAGTAAAAGGAGGAG	0.51									Schinzel-Giedion syndrome				A	42533201	-	A	42533200	7	5	25	1	0	1	1	0	0	0	0	0	14129	363	13	0	4098	0	SETBP1	18	42533200	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	1675954	42533200	35544048	1113	23549											
SMAD7	4092	broad.mit.edu	37	chr18	46448019	46448019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagatggggtaactgctgCggttgtacacccacacacca	11	11	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:46448019C>T	uc002ldg.2	-	4	1291	c.1004G>A	c.(1003-1005)CGC>CAC	p.R335H	SMAD7_uc002ldf.2_Missense_Mutation_p.R147H|SMAD7_uc010xde.1_Missense_Mutation_p.R120H	NM_005904	NP_005895	O15105	SMAD7_HUMAN	SMAD family member 7	335	MH2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding				0	Colorectal(1;0.0518)					GTAACTGCTGCGGTTGTACAC	0.572													T	46448019	C	T	46448019	3	4	25	1	0	0	0	0	1	0	0	0	14763	768	27	1	280	1	SMAD7	18	46448019	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3914819	46448019	31629229	1114	23550											
MYO5B	4645	broad.mit.edu	37	chr18	47405347	47405347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catttcatcccgaaggttgtCgtatctctgctccaactgtg	8	12	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:47405347C>T	uc002leb.2	-	24	3532	c.3244G>A	c.(3244-3246)GAC>AAC	p.D1082N	MYO5B_uc002lea.2_Missense_Mutation_p.D223N	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1082	Potential.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		CGAAGGTTGTCGTATCTCTGC	0.512													T	47405347	C	T	47405347	3	4	25	1	0	0	0	0	1	0	0	0	10079	884	31	1	2370	1	MYO5B	18	47405347	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	957328	47405347	30671901	1115	23551											
ST8SIA3	51046	broad.mit.edu	37	chr18	55027353	55027353	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtttggatttgaccccaacAcaagggaagatcttccatac	8	11	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:55027353A>G	uc002lgn.2	+	4	1345	c.988A>G	c.(988-990)ACA>GCA	p.T330A		NM_015879	NP_056963	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide	330	Lumenal (Potential).				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|skin(1)	2				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TGACCCCAACACAAGGGAAGA	0.453													G	55027353	A	G	55027353	3	3	25	1	0	0	0	0	1	0	0	0	15232	159	6	3	1002	3	ST8SIA3	18	55027353	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	7622006	55027353	23049895	1116	23552											
ATP8B1	5205	broad.mit.edu	37	chr18	55365098	55365098	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccacttagcaactttgaAcctaaggattaaaaataatg	5	7	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:55365098A>G	uc002lgw.2	-	6	556	c.556T>C	c.(556-558)TTC>CTC	p.F186L	uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	186	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				GCAACTTTGAACCTAAGGATT	0.318									Byler_disease				G	55365098	A	G	55365098	3	3	25	1	0	0	0	0	1	0	0	0	1194	57	2	3	3287	3	ATP8B1	18	55365098	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	337745	55365098	22712150	1117	23553											
ALPK2	115701	broad.mit.edu	37	chr18	56246941	56246941	+	Frame_Shift_Del	DEL	A	A	-													cttcgtcatcgctttctaatAaaaaaacatgctcagtcccc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:56246940_56246940TA>T	uc002lhj.4	-	3	1282	c.1068_1068TA>A	c.(1066-1068)ttafs	p.L356fs		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	356							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CGCTTTCTAATAAAAAAACAT	0.483											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	56246941	A	-	56246941	7	5	25	1	0	1	0	1	0	0	0	0	545	372	13	0	5485	0	ALPK2	18	56246941	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	881843	56246941	21830307	1118	23554											
PIGN	23556	broad.mit.edu	37	chr18	59828459	59828459	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaacaacactaatcttctcGctggaggaggcaatggtgta	10	9	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:59828459G>T	uc002lii.3	-	4	576	c.128C>A	c.(127-129)GCG>GAG	p.A43E	PIGN_uc002lij.3_Missense_Mutation_p.A43E	NM_176787	NP_789744	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	43	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5		Colorectal(73;0.187)				TAATCTTCTCGCTGGAGGAGG	0.403													T	59828459	G	T	59828459	3	4	25	1	0	0	0	0	1	0	0	0	11893	1087	38	5	2779	5	PIGN	18	59828459	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3581518	59828459	18248789	1119	23555											
ZNF407	55628	broad.mit.edu	37	chr18	72775204	72775204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcggccttggcagaagagCccctcgtcaaggagaagccc	14	14	1	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:72775204C>T	uc002llw.2	+	8	5584	c.5527C>T	c.(5527-5529)CCC>TCC	p.P1843S		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1843					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGCAGAAGAGCCCCTCGTCAA	0.622													T	72775204	C	T	72775204	3	4	25	1	0	0	0	0	1	0	0	0	17884	739	26	2	5687	2	ZNF407	18	72775204	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	12946745	72775204	5302044	1120	23556											
ZNF236	7776	broad.mit.edu	37	chr18	74607223	74607223	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctctggcagcctcaaggtgCacattcgcctgcacacaggt	10	15	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:74607223C>A	uc002lmi.2	+	10	1864	c.1666C>A	c.(1666-1668)CAC>AAC	p.H556N	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	556	C2H2-type 12.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCTCAAGGTGCACATTCGCCT	0.592													A	74607223	C	A	74607223	3	1	25	1	0	0	0	0	1	0	0	0	17786	710	25	5	1704	5	ZNF236	18	74607223	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1832019	74607223	3470025	1121	23557											
ZNF236	7776	broad.mit.edu	37	chr18	74627612	74627612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcttgcaggagtgaaggCgttcagctgcagtgtgtgca	16	7	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:74627612C>T	uc002lmi.2	+	19	3263	c.3065C>T	c.(3064-3066)GCG>GTG	p.A1022V	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1022					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGAGTGAAGGCGTTCAGCTGC	0.463													T	74627612	C	T	74627612	3	4	25	1	0	0	0	0	1	0	0	0	17786	768	27	1	3139	1	ZNF236	18	74627612	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	20389	74627612	3449636	1122	23558											
SALL3	27164	broad.mit.edu	37	chr18	76754839	76754839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccccgggcagcggaggcGcccctggccgcgcgggcatc	17	19	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:76754839G>A	uc002lmt.2	+	2	2848	c.2848G>A	c.(2848-2850)GCC>ACC	p.A950T	SALL3_uc010dra.2_Missense_Mutation_p.A557T	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	950					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		cagcggaggcgcccctggccg	0.527													A	76754839	G	A	76754839	3	1	25	1	0	0	0	0	1	0	0	0	13812	1087	38	1	2854	1	SALL3	18	76754839	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2127227	76754839	1322409	1123	23559											
ATP9B	374868	broad.mit.edu	37	chr18	77107847	77107847	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggctgctcatggtgcaCgggcggaacagctacaagag	16	10	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:77107847C>T	uc002lmx.2	+	24	2774	c.2760C>T	c.(2758-2760)CAC>CAT	p.H920H	ATP9B_uc002lmw.1_Silent_p.H920H|ATP9B_uc002lmz.1_Silent_p.H614H|ATP9B_uc002lna.2_Translation_Start_Site|ATP9B_uc002lnb.1_Silent_p.H40H|ATP9B_uc010drb.2_RNA	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	920	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TCATGGTGCACGGGCGGAACA	0.612													T	77107847	C	T	77107847	2	4	25	1	0	0	0	0	0	0	0	1	1199	535	19	1		1	ATP9B	18	77107847	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	353008	77107847	969401	1124	23560											
REXO1	57455	broad.mit.edu	37	chr19	1828553	1828553	+	Frame_Shift_Del	DEL	C	C	-													cacatccgggcgcggctcctCccccaggcccagggtgccat							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:1828552_1828552TC>T	uc002lua.4	-	1	331	c.236_236GA>A	c.(235-237)gagfs	p.E79fs	REXO1_uc010dsr.1_Frame_Shift_Del_p.E33fs	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	79						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCGGCTCCTCCCCCAGGCC	0.682													-	1828553	C	-	1828553	7	5	25	1	0	1	0	1	0	0	0	0	13241	864	30	0	3490	0	REXO1	19	1828553	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08		1828553	57300430	1125	23561											
DOT1L	84444	broad.mit.edu	37	chr19	2213582	2213582	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctcagcagctcctcagCcactgccaggcccagaagga	12	16	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:2213582C>T	uc002lvb.3	+	17	1638	c.1602C>T	c.(1600-1602)AGC>AGT	p.S534S	DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_RNA|DOT1L_uc002lve.1_5'Flank	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	534						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTCCTCAGCCACTGCCAGG	0.627													T	2213582	C	T	2213582	2	4	25	1	0	0	0	0	0	0	0	1	4709	738	26	2		2	DOT1L	19	2213582	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	385029	2213582	56915401	1126	23562											
GNA11	2767	broad.mit.edu	37	chr19	3110179	3110179	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgggaagagcacgttcatcAagcagatgcgcatcatccac	11	12	3	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:3110179A>C	uc002lxd.2	+	2	411	c.169A>C	c.(169-171)AAG>CAG	p.K57Q		NM_002067	NP_002058	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein),	57					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			eye(70)|skin(16)	86		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CACGTTCATCAAGCAGATGCG	0.662			Mis		uveal melanoma								C	3110179	A	C	3110179	3	2	25	1	0	0	0	0	1	0	0	0	6499	131	5	5	175	5	GNA11	19	3110179	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	896597	3110179	56018804	1127	23563											
ARRDC5	645432	broad.mit.edu	37	chr19	4891270	4891270	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacggacagcagcaacggcaGgttgaaggtgctgacaacct	13	11	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:4891270G>T	uc002mbm.2	-	3	817	c.817C>A	c.(817-819)CTG>ATG	p.L273M		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	273					signal transduction						0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		AGCAACGGCAGGTTGAAGGTG	0.637													T	4891270	G	T	4891270	3	4	25	1	0	0	0	0	1	0	0	0	986	991	35	5	215	5	ARRDC5	19	4891270	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1781091	4891270	54237713	1128	23564											
KDM4B	23030	broad.mit.edu	37	chr19	5071059	5071059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacggcaagcgcctggagcGgctggccatcggtaggtgcc	17	13	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:5071059G>A	uc002mbq.3	+	7	891	c.665G>A	c.(664-666)CGG>CAG	p.R222Q	KDM4B_uc010xil.1_Missense_Mutation_p.R222Q|KDM4B_uc010xim.1_Missense_Mutation_p.R222Q|KDM4B_uc002mbr.3_5'UTR	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	222	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						CGCCTGGAGCGGCTGGCCATC	0.711													A	5071059	G	A	5071059	3	1	25	1	0	0	0	0	1	0	0	0	8129	1116	39	1	683	1	KDM4B	19	5071059	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	179789	5071059	54057924	1129	23565											
ZNRF4	148066	broad.mit.edu	37	chr19	5455726	5455726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaccatggggtggccacGgccgggccgagccctcgtgg	19	13	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:5455726G>A	uc002mca.3	+	1	301	c.224G>A	c.(223-225)CGG>CAG	p.R75Q		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	75	Extracellular (Potential).					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GGGTGGCCACGGCCGGGCCGA	0.677													A	5455726	G	A	5455726	3	1	25	1	0	0	0	0	1	0	0	0	18211	1116	39	1	226	1	ZNRF4	19	5455726	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	384667	5455726	53673257	1130	23566											
SAFB	6294	broad.mit.edu	37	chr19	5661542	5661542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcagcagggtgcgtgaaCgcagtgaacgcgaacaacgc	15	10	0	2	rs140739982		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:5661542C>T	uc002mcf.2	+	15	1929	c.1876C>T	c.(1876-1878)CGC>TGC	p.R626C	SAFB_uc002mcg.2_Missense_Mutation_p.R626C|SAFB_uc002mce.3_Missense_Mutation_p.R625C|SAFB_uc010xir.1_Missense_Mutation_p.R625C|SAFB_uc010xis.1_Missense_Mutation_p.R557C|SAFB_uc010xit.1_Missense_Mutation_p.R468C|SAFB_uc010xiu.1_Missense_Mutation_p.R425C	NM_002967	NP_002958	Q15424	SAFB1_HUMAN	scaffold attachment factor B	626	Interaction with SAFB2.|Interaction with POLR2A.|Arg-rich.|Glu-rich.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			ovary(1)|liver(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GGTGCGTGAACGCAGTGAACG	0.637													T	5661542	C	T	5661542	3	4	25	1	0	0	0	0	1	0	0	0	13806	536	19	1	1934	1	SAFB	19	5661542	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	205816	5661542	53467441	1131	23567											
SAFB	6294	broad.mit.edu	37	chr19	5667115	5667115	+	Frame_Shift_Del	DEL	G	G	-													ccgggactcccgcgatggctGggggggctatggctctgaca							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:5667114_5667114TG>T	uc002mcg.3	+	17	2563	c.2392_2392TG>T	c.(2392-2394)tggfs	p.W798fs	SAFB_uc002mcf.3_Frame_Shift_Del_p.W798fs|SAFB_uc002mce.4_Frame_Shift_Del_p.W797fs|SAFB_uc010xis.2_Frame_Shift_Del_p.W729fs|SAFB_uc010xit.2_Frame_Shift_Del_p.W640fs|SAFB_uc010xir.2_Frame_Shift_Del_p.W797fs|SAFB_uc010xiu.2_Frame_Shift_Del_p.W597fs	NM_001201338	NP_001188267	Q15424	SAFB1_HUMAN	Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA.	798	Arg-rich.|Gly-rich.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CCGCGATGGCTGGGGGGGCTA	0.642													-	5667115	G	-	5667115	7	5	25	1	0	1	0	1	0	0	0	0	13806	1357	47	0	2463	0	SAFB	19	5667115	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	5573	5667115	53461868	1132	23568											
SLC25A23	79085	broad.mit.edu	37	chr19	6452431	6452431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctccaggatacgcctggcGcagtccagcagccccttata	9	16	1	0	rs140701489	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:6452431G>A	uc002mex.1	-	8	1105	c.963C>T	c.(961-963)TGC>TGT	p.C321C	SLC25A23_uc002mev.2_RNA|SLC25A23_uc010xjd.1_Intron	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	solute carrier family 25, member 23	321	Solcar 2.|Mitochondrial matrix (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)|pancreas(1)	2						TACGCCTGGCGCAGTCCAGCA	0.657													A	6452431	G	A	6452431	2	1	25	1	0	0	0	0	0	0	0	1	14486	1079	38	1		1	SLC25A23	19	6452431	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	785316	6452431	52676552	1133	23569											
VAV1	7409	broad.mit.edu	37	chr19	6832176	6832178	+	In_Frame_Del	DEL	GAA	GAA	-													ttcttcaagacaagagaattGaagaagaagtggatggagca							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:6832175_6832177TGAA>T	uc002mfu.1	+	14	1569_1571	c.1472_1474TGAA>T	c.(1471-1476)ttgaag>tTag	p.K494del	VAV1_uc010xjh.1_In_Frame_Del_p.K462del|VAV1_uc010dva.1_In_Frame_Del_p.K494del|VAV1_uc002mfv.1_In_Frame_Del_p.K439del	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	494	PH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						ACAAGAGAATTGAAGAAGAAGTG	0.547													-	6832178	GAA	-	6832176	7	5	25	1	0	1	0	1	0	0	0	0	17128	1281	45	0	1531	0	VAV1	19	6832176	In_Frame_Del	DEL	GAA	TCGA-BR-4370-01A-01D-1158-08	379745	6832176	52296807	1134	23570											
VAV1	7409	broad.mit.edu	37	chr19	6854032	6854032	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaccgatcagagctgtcgCtcaaggagggtgacatcatc	13	10	3	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:6854032C>A	uc002mfu.1	+	26	2504	c.2407C>A	c.(2407-2409)CTC>ATC	p.L803I	VAV1_uc010xjh.1_Missense_Mutation_p.L771I|VAV1_uc010dva.1_Missense_Mutation_p.L781I|VAV1_uc002mfv.1_Missense_Mutation_p.L748I	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	803	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						AGAGCTGTCGCTCAAGGAGGG	0.557													A	6854032	C	A	6854032	3	1	25	1	0	0	0	0	1	0	0	0	17128	797	28	5	2509	5	VAV1	19	6854032	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	21856	6854032	52274951	1135	23571											
HNRNPM	4670	broad.mit.edu	37	chr19	8527430	8527430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagttggtgaggtaacatacGtggagctcttaatggacgct	13	6	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:8527430G>A	uc010dwe.2	+	3	381	c.301G>A	c.(301-303)GTG>ATG	p.V101M	HNRNPM_uc010dwc.1_Missense_Mutation_p.V101M|HNRNPM_uc010xke.1_Missense_Mutation_p.V101M|HNRNPM_uc010dwd.2_Missense_Mutation_p.V101M|HNRNPM_uc002mka.2_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	101	RRM 1.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0						GGTAACATACGTGGAGCTCTT	0.403													A	8527430	G	A	8527430	3	1	25	1	0	0	0	0	1	0	0	0	7271	1145	40	1	311	1	HNRNPM	19	8527430	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1673398	8527430	50601553	1136	23572											
ADAMTS10	81794	broad.mit.edu	37	chr19	8670129	8670129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggactcggctgtggcccccGtgccgcggcgctgcctccgg	17	17	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:8670129G>A	uc002mkj.1	-	4	477	c.203C>T	c.(202-204)ACG>ATG	p.T68M	ADAMTS10_uc002mkk.1_Translation_Start_Site	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	68					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						TGTGGCCCCCGTGCCGCGGCG	0.682													A	8670129	G	A	8670129	3	1	25	1	0	0	0	0	1	0	0	0	256	1145	40	1	3200	1	ADAMTS10	19	8670129	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	142699	8670129	50458854	1137	23573											
EIF3G	8666	broad.mit.edu	37	chr19	10227489	10227491	+	In_Frame_Del	DEL	CTC	CTC	-													cccacacctcccggcagcttCtccttctcgccagtagacag							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:10227488_10227490TCTC>T	uc002mnd.3	-	6	645_647	c.581_583GAGA>A	c.(580-585)gagaag>gAag	p.K195del		NM_003755	NP_003746	O75821	EIF3G_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit G (EIF3G), mRNA.	195						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CCCGGCAGCTTCTCCTTCTCGCC	0.655													-	10227491	CTC	-	10227489	7	5	25	1	0	1	0	1	0	0	0	0	5017	912	32	0	400	0	EIF3G	19	10227489	In_Frame_Del	DEL	CTC	TCGA-BR-4370-01A-01D-1158-08	1557360	10227489	48901494	1138	23574											
DNMT1	1786	broad.mit.edu	37	chr19	10267172	10267172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgggacacaggtgaccgtGcttacagtacacactagaca	11	10	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:10267172G>A	uc002mng.2	-	17	1426	c.1246C>T	c.(1246-1248)CAC>TAC	p.H416Y	DNMT1_uc010xlc.1_Missense_Mutation_p.H432Y|DNMT1_uc002mnh.2_Missense_Mutation_p.H311Y|DNMT1_uc010xld.1_Missense_Mutation_p.H416Y	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	416	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	AGGTGACCGTGCTTACAGTAC	0.493													A	10267172	G	A	10267172	3	1	25	1	0	0	0	0	1	0	0	0	4675	1319	46	2	3700	2	DNMT1	19	10267172	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	39683	10267172	48861811	1139	23575											
SMARCA4	6597	broad.mit.edu	37	chr19	11144113	11144113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagaaggtgatccaggccGgcatgttcgaccagaagtcc	12	12	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:11144113G>A	uc002mqf.3	+	26	3978	c.3694G>A	c.(3694-3696)GGC>AGC	p.G1232S	SMARCA4_uc010dxp.2_Missense_Mutation_p.G1232S|SMARCA4_uc010dxo.2_Missense_Mutation_p.G1232S|SMARCA4_uc010dxq.2_Missense_Mutation_p.G1232S|SMARCA4_uc010dxr.2_Missense_Mutation_p.G1232S|SMARCA4_uc002mqj.3_Missense_Mutation_p.G1232S|SMARCA4_uc010dxs.2_Missense_Mutation_p.G1232S|SMARCA4_uc010dxt.1_Missense_Mutation_p.G452S|SMARCA4_uc002mqh.3_Missense_Mutation_p.G355S|SMARCA4_uc002mqi.1_Missense_Mutation_p.G435S	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1232	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.G1232D(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GATCCAGGCCGGCATGTTCGA	0.637			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				A	11144113	G	A	11144113	3	1	25	1	0	0	0	0	1	0	0	0	14770	1116	39	1	3792	1	SMARCA4	19	11144113	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	876941	11144113	47984870	1140	23576											
LDLR	3949	broad.mit.edu	37	chr19	11217255	11217255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccagctgtggccacctgtCgccctgacgaattccagtgc	10	15	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:11217255C>T	uc002mqk.3	+	5	877	c.709C>T	c.(709-711)CGC>TGC	p.R237C	LDLR_uc010xlk.1_Missense_Mutation_p.R237C|LDLR_uc010xll.1_Missense_Mutation_p.R196C|LDLR_uc010xlm.1_Missense_Mutation_p.R90C|LDLR_uc010xln.1_Missense_Mutation_p.R110C|LDLR_uc010xlo.1_Intron	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	237	LDL-receptor class A 6.|Extracellular (Potential).				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GGCCACCTGTCGCCCTGACGA	0.473													T	11217255	C	T	11217255	3	4	25	1	0	0	0	0	1	0	0	0	8704	884	31	1	727	1	LDLR	19	11217255	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	73142	11217255	47911728	1141	23577											
CCDC151	115948	broad.mit.edu	37	chr19	11537032	11537032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcactcacttatgtagcGttcccgcttcttgcgctctc	7	15	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:11537032G>A	uc002mrs.2	-	7	1038	c.895C>T	c.(895-897)CGC>TGC	p.R299C	CCDC151_uc002mrr.2_Missense_Mutation_p.R234C|CCDC151_uc010dxz.2_Missense_Mutation_p.R239C	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	299	Potential.									ovary(1)	1						CTTATGTAGCGTTCCCGCTTC	0.622													A	11537032	G	A	11537032	3	1	25	1	0	0	0	0	1	0	0	0	2786	1145	40	1	920	1	CCDC151	19	11537032	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	319777	11537032	47591951	1142	23578											
ZNF625	90589	broad.mit.edu	37	chr19	12256707	12256707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtcttcgaatgcttgaaCgggaaataaagctttttcca	9	7	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:12256707C>T	uc002mth.2	-	4	676	c.326G>A	c.(325-327)CGT>CAT	p.R109H	ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Missense_Mutation_p.R143H	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	zinc finger protein 625	109	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AATGCTTGAACGGGAAATAAA	0.433													T	12256707	C	T	12256707	3	4	25	1	0	0	0	0	1	0	0	0	18046	536	19	1	598	1	ZNF625	19	12256707	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	719675	12256707	46872276	1143	23579											
ZNF442	79973	broad.mit.edu	37	chr19	12461259	12461259	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataacgctttcccacactgCttgcattcatagggtttctc	7	12	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:12461259C>T	uc002mtr.1	-	6	1751	c.1140G>A	c.(1138-1140)AAG>AAA	p.K380K	ZNF442_uc010xmk.1_Silent_p.K311K	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	380	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|breast(1)|kidney(1)	4						TCCCACACTGCTTGCATTCAT	0.428													T	12461259	C	T	12461259	2	4	25	1	0	0	0	0	0	0	0	1	17912	796	28	2		2	ZNF442	19	12461259	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	204552	12461259	46667724	1144	23580											
TNPO2	30000	broad.mit.edu	37	chr19	12829855	12829855	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcaccaatggtggctcGgatgagcgaggaggcatcgc	14	12	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:12829855G>A	uc002muo.2	-	4	498	c.313C>T	c.(313-315)CGA>TGA	p.R105*	TNPO2_uc002mup.2_Nonsense_Mutation_p.R197*|TNPO2_uc002muq.2_Nonsense_Mutation_p.R105*|TNPO2_uc002mur.2_Nonsense_Mutation_p.R105*	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	105					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						ATGGTGGCTCGGATGAGCGAG	0.458													A	12829855	G	A	12829855	4	1	25	1	0	0	0	0	0	1	0	0	16333	1124	39	1	2464	1	TNPO2	19	12829855	Nonsense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	368596	12829855	46299128	1145	23581											
RNASEH2A	10535	broad.mit.edu	37	chr19	12918305	12918305	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtatgcattggaccagggCgtgaacgtcacccaggtgag	14	10	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:12918305C>T	uc002mvg.1	+	4	456	c.396C>T	c.(394-396)GGC>GGT	p.G132G	RNASEH2A_uc002mvf.1_Silent_p.G50G	NM_006397	NP_006388	O75792	RNH2A_HUMAN	ribonuclease H2, large subunit	132					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(2)|central_nervous_system(1)	3						TGGACCAGGGCGTGAACGTCA	0.413													T	12918305	C	T	12918305	2	4	25	1	0	0	0	0	0	0	0	1	13412	755	27	1		1	RNASEH2A	19	12918305	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	88450	12918305	46210678	1146	23582											
CACNA1A	773	broad.mit.edu	37	chr19	13395983	13395984	+	Frame_Shift_Ins	INS	-	-	T													cctccttcttctcttcctctINSttttttggcagtgggtctgg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:13395982_13395983C>CT	uc002mwy.3	-	20	3827_3828	c.3591_3592G>AG	c.(3589-3594)aaagagfs	p.K1197fs	CACNA1A_uc010dzc.2_Frame_Shift_Ins_p.K723fs|CACNA1A_uc010xnd.2_Frame_Shift_Ins_p.K1200fs|CACNA1A_uc021ups.1_Frame_Shift_Ins_p.K1197fs|CACNA1A_uc010xne.2_Frame_Shift_Ins_p.K1200fs|CACNA1A_uc010dze.2_Frame_Shift_Ins_p.K1197fs|CACNA1A_uc021upt.1_Frame_Shift_Ins_p.K1198fs	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1198					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ttctcttcctcttTTTTTGGCA	0.54													T	13395984	-	T	13395983	7	5	25	1	0	1	1	0	0	0	0	0	2538	1606	56	0	4139	0	CACNA1A	19	13395983	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	477678	13395983	45733000	1147	23583											
NANOS3	342977	broad.mit.edu	37	chr19	13988423	13988423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcggcgccacacgtgagCgcgcccacacccgacgcttc	12	18	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:13988423C>T	uc002mxj.3	+	1	474	c.361C>T	c.(361-363)CGC>TGC	p.R121C		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	nanos homolog 3	102	C2HC 2.|Nanos-type.				anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CACACGTGAGCGCGCCCACAC	0.662													T	13988423	C	T	13988423	3	4	25	1	0	0	0	0	1	0	0	0	10153	768	27	1	363	1	NANOS3	19	13988423	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	592440	13988423	45140560	1148	23584											
C19orf57	79173	broad.mit.edu	37	chr19	14000887	14000887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggcaggccagcccctGctgtcctttgggcccctccc	10	20	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:14000887G>A	uc002mxl.1	-	6	841	c.782C>T	c.(781-783)GCA>GTA	p.A261V	C19orf57_uc002mxk.1_Missense_Mutation_p.A143V|C19orf57_uc002mxm.1_Intron	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	261					multicellular organismal development		protein binding			ovary(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GCCAGCCCCTGCTGTCCTTTG	0.652													A	14000887	G	A	14000887	3	1	25	1	0	0	0	0	1	0	0	0	1939	1319	46	2	1143	2	C19orf57	19	14000887	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	12464	14000887	45128096	1149	23585											
CD97	976	broad.mit.edu	37	chr19	14507198	14507198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggctctgtaaaagctacGgcacctgcgtcaacaccctt	8	14	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:14507198G>A	uc002myl.2	+	5	514	c.391G>A	c.(391-393)GGC>AGC	p.G131S	CD97_uc002mym.2_Missense_Mutation_p.G131S|CD97_uc002myn.2_Intron	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	131	Extracellular (Potential).|EGF-like 3; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)|breast(1)	4						TAAAAGCTACGGCACCTGCGT	0.567													A	14507198	G	A	14507198	3	1	25	1	0	0	0	0	1	0	0	0	3049	1116	39	1	409	1	CD97	19	14507198	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	506311	14507198	44621785	1150	23586											
BRD4	23476	broad.mit.edu	37	chr19	15349730	15349730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctcctggcGccgacgtgcctcctcatggg	13	16	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:15349730G>A	uc002nar.2	-	19	4066	c.3844C>T	c.(3844-3846)CGC>TGC	p.R1282C		NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	1282					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)			tgctcctgGCGCCGACGTGCC	0.522			T	NUT|C15orf55	lethal midline carcinoma of young people								A	15349730	G	A	15349730	3	1	25	1	0	0	0	0	1	0	0	0	1504	1087	38	1	252	1	BRD4	19	15349730	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	842532	15349730	43779253	1151	23587											
C19orf44	84167	broad.mit.edu	37	chr19	16611979	16611979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaatgaccgccgatgctGgtcttccaaagagagctgac	10	12	2	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:16611979G>A	uc002neh.1	+	2	449	c.376G>A	c.(376-378)GGT>AGT	p.G126S	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.G126S|C19orf44_uc002neg.2_Missense_Mutation_p.G126S|C19orf44_uc010eai.1_RNA	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	hypothetical protein LOC84167	126											0						CGCCGATGCTGGTCTTCCAAA	0.537													A	16611979	G	A	16611979	3	1	25	1	0	0	0	0	1	0	0	0	1927	1348	47	4	378	4	C19orf44	19	16611979	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1262249	16611979	42517004	1152	23588											
MED26	9441	broad.mit.edu	37	chr19	16687979	16687979	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcacggcgttgacggggAtcttgccactgtgcttgtca	14	11	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:16687979A>C	uc002nen.1	-	3	923	c.662T>G	c.(661-663)ATC>AGC	p.I221S	MED26_uc002nee.2_RNA	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	221					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			ovary(2)	2						GTTGACGGGGATCTTGCCACT	0.667													C	16687979	A	C	16687979	3	2	25	1	0	0	0	0	1	0	0	0	9444	333	12	5	1144	5	MED26	19	16687979	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	76000	16687979	42441004	1153	23589											
ANO8	57719	broad.mit.edu	37	chr19	17438603	17438603	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggttgttgaccagggcGcacagcgccgccagggggaa	17	10	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:17438603G>A	uc002ngf.2	-	14	2472	c.2313C>T	c.(2311-2313)TGC>TGT	p.C771C	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	771	Helical; (Potential).					chloride channel complex	chloride channel activity			ovary(3)	3						TGACCAGGGCGCACAGCGCCG	0.647													A	17438603	G	A	17438603	2	1	25	1	0	0	0	0	0	0	0	1	703	1079	38	1		1	ANO8	19	17438603	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	750624	17438603	41690380	1154	23590											
PLVAP	83483	broad.mit.edu	37	chr19	17476403	17476403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgcgttcgatatccgcccGgaggctccgggccagctcct	12	17	0	0	rs141514915		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:17476403G>A	uc002ngk.1	-	3	921	c.871C>T	c.(871-873)CGG>TGG	p.R291W		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	291	Potential.|Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						ATATCCGCCCGGAGGCTCCGG	0.657													A	17476403	G	A	17476403	3	1	25	1	0	0	0	0	1	0	0	0	12116	1115	39	1	473	1	PLVAP	19	17476403	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	37800	17476403	41652580	1155	23591											
SLC27A1	376497	broad.mit.edu	37	chr19	17608216	17608216	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcttcggcgtacgccaaatCggggagttctacggcgccac	13	14	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:17608216C>T	uc002ngu.1	+	7	1199	c.1149C>T	c.(1147-1149)ATC>ATT	p.I383I	SLC27A1_uc002ngt.1_Silent_p.I115I|SLC27A1_uc010xpp.1_Silent_p.I204I|SLC27A1_uc002ngv.1_5'UTR	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	383	Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding				0						TACGCCAAATCGGGGAGTTCT	0.687													T	17608216	C	T	17608216	2	4	25	1	0	0	0	0	0	0	0	1	14525	874	31	1		1	SLC27A1	19	17608216	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	131813	17608216	41520767	1156	23592											
PGLS	25796	broad.mit.edu	37	chr19	17626983	17626983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccctctgttggctgcagaCgcatcttctctccagactgc	9	15	3	2	rs143569199		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:17626983C>T	uc002ngw.2	+	2	340	c.290C>T	c.(289-291)ACG>ATG	p.T97M		NM_012088	NP_036220	O95336	6PGL_HUMAN	6-phosphogluconolactonase	97						cytosol	6-phosphogluconolactonase activity				0						TGGCTGCAGACGCATCTTCTC	0.433													T	17626983	C	T	17626983	3	4	25	1	0	0	0	0	1	0	0	0	11792	550	19	1	296	1	PGLS	19	17626983	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	18767	17626983	41502000	1157	23593											
IL12RB1	3594	broad.mit.edu	37	chr19	18179309	18179309	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttttcctgccccattgccCcagactctcgactccagctg	6	18	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:18179309C>A	uc002nhw.1	-	11	1281	c.1217G>T	c.(1216-1218)GGG>GTG	p.G406V	IL12RB1_uc010xqb.1_Missense_Mutation_p.G406V|IL12RB1_uc002nhx.1_Missense_Mutation_p.G446V	NM_005535	NP_005526	P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1 isoform 1	406	Extracellular (Potential).|Fibronectin type-III 4.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			pancreas(1)	1						CCCCATTGCCCCAGACTCTCG	0.438													A	18179309	C	A	18179309	3	1	25	1	0	0	0	0	1	0	0	0	7626	623	22	5	799	5	IL12RB1	19	18179309	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	552326	18179309	40949674	1158	23594											
GMIP	51291	broad.mit.edu	37	chr19	19744834	19744834	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatctgctcgtagtgcacGatgaggaactccacaagctg	11	10	1	2	rs138372356		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:19744834G>A	uc002nnd.2	-	19	2367	c.2250C>T	c.(2248-2250)ATC>ATT	p.I750I	GMIP_uc010xrb.1_Silent_p.I724I|GMIP_uc010xrc.1_Silent_p.I721I	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	750	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						CGTAGTGCACGATGAGGAACT	0.498													A	19744834	G	A	19744834	2	1	25	1	0	0	0	0	0	0	0	1	6491	1048	37	1		1	GMIP	19	19744834	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1565525	19744834	39384149	1159	23595											
ZNF682	91120	broad.mit.edu	37	chr19	20116856	20116856	+	Frame_Shift_Del	DEL	T	T	-													tgattaaaagcttccccacaTtttttatacttgcaggattt							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:20116855_20116855AT>A	uc002noq.3	-	3	1579	c.1456_1456AT>T	c.(1456-1458)tgtfs	p.C486fs	ZNF682_uc002noo.3_Frame_Shift_Del_p.C454fs|ZNF682_uc002nop.3_Frame_Shift_Del_p.C454fs|ZNF682_uc010eck.3_Frame_Shift_Del_p.C410fs	NM_033196	NP_001070817	O95780	ZN682_HUMAN	Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA.	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						GCTTCCCCACATTTTTTATAC	0.333													-	20116856	T	-	20116856	7	5	25	1	0	1	0	1	0	0	0	0	18086	1490	52	0	45	0	ZNF682	19	20116856	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	372022	20116856	39012127	1160	23596											
ZNF431	170959	broad.mit.edu	37	chr19	21365877	21365877	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagagaattcatactggagaGaaacccttcaaatgtgaaga	9	6	2	4			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:21365877G>A	uc002npp.2	+	5	918	c.771G>A	c.(769-771)GAG>GAA	p.E257E	ZNF431_uc010ecq.2_Silent_p.E166E|ZNF431_uc010ecr.2_Silent_p.E258E	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN	zinc finger protein 431	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2						ATACTGGAGAGAAACCCTTCA	0.368													A	21365877	G	A	21365877	2	1	25	1	0	0	0	0	0	0	0	1	17902	933	33	4		4	ZNF431	19	21365877	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1249021	21365877	37763106	1161	23597											
ZNF676	163223	broad.mit.edu	37	chr19	22379411	22379411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttattctcacccaggaagaCcaggtttctgtagttctcta	8	10	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:22379411C>T	uc002nqs.1	-	1	343	c.25G>A	c.(25-27)GTC>ATC	p.V9I		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	9	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CCCAGGAAGACCAGGTTTCTG	0.318													T	22379411	C	T	22379411	3	4	25	1	0	0	0	0	1	0	0	0	18080	507	18	4	1753	4	ZNF676	19	22379411	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1013534	22379411	36749572	1162	23598											
ANKRD27	84079	broad.mit.edu	37	chr19	33110407	33110407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggctgacttacctcggacGacttctgcctcctctcgaag	9	16	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:33110407G>A	uc002ntn.1	-	19	2036	c.1880C>T	c.(1879-1881)TCG>TTG	p.S627L		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	627	ANK 6.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)					TACCTCGGACGACTTCTGCCT	0.582													A	33110407	G	A	33110407	3	1	25	1	0	0	0	0	1	0	0	0	655	1059	37	1	1316	1	ANKRD27	19	33110407	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	10730996	33110407	26018576	1163	23599											
C19orf40	91442	broad.mit.edu	37	chr19	33464997	33464998	+	Frame_Shift_Ins	INS	-	-	A													aaaggaattgtagtcgttgaINSaaaaacccggatgagtgaac							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:33464996_33464997G>GA	uc002nud.4	+	3	392_393	c.274_275G>GA	c.(274-276)gaafs	p.E92fs	CEP89_uc002nty.3_5'Flank|CEP89_uc010edg.3_5'Flank|CEP89_uc002nua.3_5'Flank|CEP89_uc002nuc.1_5'Flank	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Homo sapiens chromosome 19 open reading frame 40 (C19orf40), mRNA.	92					DNA repair	Fanconi anaemia nuclear complex	DNA binding|chromatin binding|protein binding	p.E92Q(4)		endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TGTAGTCGTTGAAAAAACCCGG	0.416								Direct reversal of damage					A	33464998	-	A	33464997	7	5	25	1	0	1	1	0	0	0	0	0	1923	246	9	0	285	0	C19orf40	19	33464997	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	354590	33464997	25663986	1164	23600											
LRP3	4037	broad.mit.edu	37	chr19	33687652	33687652	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtgaacatctttctcacCgggagactcagcagtgcggt	11	11	3	2	rs138753598		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:33687652C>T	uc010edh.2	+	2	183	c.90C>T	c.(88-90)ACC>ACT	p.T30T	LRP3_uc010xrp.1_5'UTR	NM_002333	NP_002324	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein	30					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			pancreas(2)|ovary(1)	3	Esophageal squamous(110;0.137)					TCTTTCTCACCGGGAGACTCA	0.542													T	33687652	C	T	33687652	2	4	25	1	0	0	0	0	0	0	0	1	8958	639	23	1		1	LRP3	19	33687652	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	222655	33687652	25441331	1165	23601											
TMEM147	10430	broad.mit.edu	37	chr19	36036859	36036859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctttgtccaactctgcaaGgtgagggccaccgggaagcc	12	13	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:36036859G>A	uc002oaj.1	+	2	244	c.147G>A	c.(145-147)AAG>AAA	p.K49K	uc010eec.1_5'Flank|uc002oag.2_RNA|TMEM147_uc002oai.1_5'UTR|TMEM147_uc002oak.1_5'UTR	NM_032635	NP_116024	Q9BVK8	TM147_HUMAN	transmembrane protein 147	49	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AACTCTGCAAGGTGAGGGCCA	0.642													A	36036859	G	A	36036859	2	1	25	1	0	0	0	0	0	0	0	1	16058	1014	35	4		4	TMEM147	19	36036859	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2349207	36036859	23092124	1166	23602											
RBM42	79171	broad.mit.edu	37	chr19	36122057	36122057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacaggtccagcagactctgGaggcccgagcagctgctgca	14	13	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:36122057G>A	uc002oan.2	+	3	374	c.298G>A	c.(298-300)GAG>AAG	p.E100K	RBM42_uc010xsx.1_Missense_Mutation_p.E100K|RBM42_uc010eef.2_Missense_Mutation_p.E100K|RBM42_uc002oao.2_Missense_Mutation_p.E100K|RBM42_uc002oap.2_Missense_Mutation_p.E100K|RBM42_uc002oaq.2_Missense_Mutation_p.E100K|RBM42_uc010eeg.2_Missense_Mutation_p.E100K	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	100						cytoplasm|nucleus	nucleotide binding|RNA binding				0	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCAGACTCTGGAGGCCCGAGC	0.602													A	36122057	G	A	36122057	3	1	25	1	0	0	0	0	1	0	0	0	13136	1175	41	4	308	4	RBM42	19	36122057	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	85198	36122057	23006926	1167	23603											
LRFN3	79414	broad.mit.edu	37	chr19	36435796	36435796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtttgctcccagaccaacGgcgccctgggccccacgccc	11	20	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:36435796G>A	uc002oco.2	+	3	2214	c.1762G>A	c.(1762-1764)GGC>AGC	p.G588S		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	588	Cytoplasmic (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCAGACCAAcggcgccctggg	0.478													A	36435796	G	A	36435796	3	1	25	1	0	0	0	0	1	0	0	0	8939	1116	39	1	1768	1	LRFN3	19	36435796	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	313739	36435796	22693187	1168	23604											
ZNF146	7705	broad.mit.edu	37	chr19	36727221	36727221	+	Translation_Start_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcatttgggagatcatAcacagagaagccttataaat	8	8	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:36727221A>G	uc002odq.3	+	4	1402	c.-121A>G	c.(-123--119)ATACA>ATGCA		ZNF146_uc010eet.2_Translation_Start_Site|ZNF146_uc010eeu.2_Translation_Start_Site	NM_007145	NP_009076	Q15072	OZF_HUMAN	zinc finger protein 146						regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding				0	Esophageal squamous(110;0.162)					GGGAGATCATACACAGAGAAG	0.333													G	36727221	A	G	36727221	1	3	25	1	0	0	0	0	0	0	0	0	17730	406	14	3		3	ZNF146	19	36727221	Translation_Start_Site	SNP	A	TCGA-BR-4370-01A-01D-1158-08	291425	36727221	22401762	1169	23605											
ZNF570	148268	broad.mit.edu	37	chr19	37975122	37975122	+	Frame_Shift_Del	DEL	A	A	-													acacacaaaagagaagctttAaaaaaaatttaatggctatt							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:37975121_37975121TA>T	uc010efl.1	+	5	884	c.765_765TA>T	c.(763-765)tttfs	p.F255fs	ZNF570_uc002ogk.1_Frame_Shift_Del_p.F199fs|ZNF570_uc010xtr.1_5'UTR	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAGAAGCTTTAAAAAAAATT	0.368													-	37975122	A	-	37975122	7	5	25	1	0	1	0	1	0	0	0	0	17999	363	13	0	612	0	ZNF570	19	37975122	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	1247901	37975122	21153861	1170	23606											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572401	38572401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccgccaccgccaccaccCgccccagccccaccactccc	4	29	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:38572401C>T	uc002ohk.2	+	3	705	c.196C>T	c.(196-198)CGC>TGC	p.R66C		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	66					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			cgccaccaccCGCCCCAGCCC	0.577													T	38572401	C	T	38572401	3	4	25	1	0	0	0	0	1	0	0	0	14331	652	23	1	198	1	SIPA1L3	19	38572401	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	597279	38572401	20556582	1171	23607											
RYR1	6261	broad.mit.edu	37	chr19	38976748	38976748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgaggatgctgggggaggCggtgcgcgacggtgggcagc	22	8	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:38976748C>T	uc002oit.2	+	34	5583	c.5453C>T	c.(5452-5454)GCG>GTG	p.A1818V	RYR1_uc002oiu.2_Missense_Mutation_p.A1818V	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1818	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGGGGGAGGCGGTGCGCGAC	0.706													T	38976748	C	T	38976748	3	4	25	1	0	0	0	0	1	0	0	0	13768	768	27	1	5587	1	RYR1	19	38976748	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	404347	38976748	20152235	1172	23608											
RYR1	6261	broad.mit.edu	37	chr19	39010019	39010019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagggcgagctgctggtgcGggacgagttctctgtgctct	18	9	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:39010019G>A	uc002oit.2	+	67	10314	c.10184G>A	c.(10183-10185)CGG>CAG	p.R3395Q	RYR1_uc002oiu.2_Missense_Mutation_p.R3395Q|RYR1_uc002oiv.1_Missense_Mutation_p.R315Q|RYR1_uc010xuf.1_Missense_Mutation_p.R315Q	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3395					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGCTGGTGCGGGACGAGTTC	0.682													A	39010019	G	A	39010019	3	1	25	1	0	0	0	0	1	0	0	0	13768	1116	39	1	10450	1	RYR1	19	39010019	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	33271	39010019	20118964	1173	23609											
SIRT2	22933	broad.mit.edu	37	chr19	39380359	39380359	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaggatagagttccttggcGagggcgaagaagggttccgg	17	8	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:39380359G>A	uc002ojt.1	-	7	602	c.402C>T	c.(400-402)CTC>CTT	p.L134L	SIRT2_uc010egh.1_Silent_p.L97L|SIRT2_uc010egi.1_Silent_p.L97L|SIRT2_uc002ojs.1_Silent_p.L114L|SIRT2_uc002oju.1_Silent_p.L97L|SIRT2_uc010egj.1_Silent_p.L97L|SIRT2_uc002ojv.1_Silent_p.L132L	NM_012237	NP_036369	Q8IXJ6	SIRT2_HUMAN	sirtuin 2 isoform 1	134	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GTTCCTTGGCGAGGGCGAAGA	0.602													A	39380359	G	A	39380359	2	1	25	1	0	0	0	0	0	0	0	1	14338	1045	37	1		1	SIRT2	19	39380359	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	370340	39380359	19748624	1174	23610											
ZFP36	7538	broad.mit.edu	37	chr19	39898575	39898575	+	Frame_Shift_Del	DEL	C	C	-													gctgtggctgggtgcccccaCcccctggcttcgcaccgctg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:39898574_39898574AC>A	uc002olh.1	+	1	274	c.216_216AC>A	c.(214-216)ccafs	p.P72fs		NM_003407	NP_003398	P26651	TTP_HUMAN	Homo sapiens zinc finger protein 36, C3H type, homolog (mouse) (ZFP36), mRNA.	72					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGTGCCCCCACCCCCTGGCT	0.721													-	39898575	C	-	39898575	7	5	25	1	0	1	0	1	0	0	0	0	17642	507	18	0	223	0	ZFP36	19	39898575	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	518216	39898575	19230408	1175	23611											
PLEKHG2	64857	broad.mit.edu	37	chr19	39905680	39905680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaggttctgggagctccaCatccctgagcacagtgggct	13	13	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:39905680C>T	uc010xuz.1	+	3	483	c.158C>T	c.(157-159)ACA>ATA	p.T53I	PLEKHG2_uc010xuy.1_Intron|PLEKHG2_uc002olj.2_Missense_Mutation_p.T53I|PLEKHG2_uc010xva.1_5'Flank	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	53					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGAGCTCCACATCCCTGAGC	0.672													T	39905680	C	T	39905680	3	4	25	1	0	0	0	0	1	0	0	0	12069	478	17	4	164	4	PLEKHG2	19	39905680	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	7105	39905680	19223303	1176	23612											
TIMM50	92609	broad.mit.edu	37	chr19	39977066	39977066	+	Frame_Shift_Del	DEL	C	C	-													ccactcattgatagtgtggaCccccatggcttcatctccta							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:39977065_39977065AC>A	uc002olu.1	+	7	1068	c.935_935AC>A	c.(934-936)gacfs	p.D312fs	TIMM50_uc002olt.1_Non-coding_Transcript|TIMM50_uc002olv.1_Frame_Shift_Del_p.D11fs	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) (TIMM50), nuclear gene encoding mitochondrial protein, mRNA.	209					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	RNA binding|interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GATAGTGTGGACCCCCATGGC	0.587													-	39977066	C	-	39977066	7	5	25	1	0	1	0	1	0	0	0	0	15910	506	18	0	966	0	TIMM50	19	39977066	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	71386	39977066	19151917	1177	23613											
LGALS14	56891	broad.mit.edu	37	chr19	40197275	40197275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttccttgcctgttggttcGtgcgtgataatcacagggac	12	9	1	1	rs146704740	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:40197275G>A	uc002omg.2	+	2	277	c.54G>A	c.(52-54)TCG>TCA	p.S18S	LGALS14_uc002omf.2_Silent_p.S47S	NM_020129	NP_064514	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14 isoform	18	Galectin.					nucleus	sugar binding			ovary(1)|skin(1)	2	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			CTGTTGGTTCGTGCGTGATAA	0.502													A	40197275	G	A	40197275	2	1	25	1	0	0	0	0	0	0	0	1	8741	1132	40	1		1	LGALS14	19	40197275	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	220209	40197275	18931708	1178	23614											
PLD3	23646	broad.mit.edu	37	chr19	40877716	40877716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccggttctatgacacccGctacaaccaagagacaccaa	7	16	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:40877716G>A	uc002onm.3	+	9	1213	c.815G>A	c.(814-816)CGC>CAC	p.R272H	PLD3_uc002onj.3_Missense_Mutation_p.R272H|PLD3_uc002onk.3_Missense_Mutation_p.R272H|PLD3_uc002onl.3_Missense_Mutation_p.R272H|PLD3_uc002onn.2_Missense_Mutation_p.R272H	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	phospholipase D3	272	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			skin(2)|ovary(1)	3			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			TATGACACCCGCTACAACCAA	0.597													A	40877716	G	A	40877716	3	1	25	1	0	0	0	0	1	0	0	0	12047	1087	38	1	841	1	PLD3	19	40877716	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	680441	40877716	18251267	1179	23615											
MEGF8	1954	broad.mit.edu	37	chr19	42879848	42879848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcccaaattcaccaacGtggacatccgcctgacgctg	9	15	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:42879848G>A	uc002otl.3	+	41	7893	c.7258G>A	c.(7258-7260)GTG>ATG	p.V2420M	MEGF8_uc002otm.3_Missense_Mutation_p.V2028M|MEGF8_uc002otn.3_Missense_Mutation_p.V81M	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2487	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				ATTCACCAACGTGGACATCCG	0.642													A	42879848	G	A	42879848	3	1	25	1	0	0	0	0	1	0	0	0	9463	1145	40	1	7420	1	MEGF8	19	42879848	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2002132	42879848	16249135	1180	23616											
PSG6	5675	broad.mit.edu	37	chr19	43585372	43585372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgacttgggcagtggtggGcaggttccagaagtttaaaa	15	6	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:43585372G>A	uc002ovi.2	-	2	184	c.91C>T	c.(91-93)CCC>TCC	p.P31S	PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Missense_Mutation_p.P31S|PSG2_uc002ovq.3_Missense_Mutation_p.P31S|PSG2_uc010eiq.1_Missense_Mutation_p.P31S|PSG2_uc002ovs.3_Missense_Mutation_p.P31S|PSG2_uc002ovt.3_Missense_Mutation_p.P31S			Q00889	PSG6_HUMAN	SubName: Full=Putative uncharacterized protein PSG6;	31					female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)				GCAGTGGTGGGCAGGTTCCAG	0.498													A	43585372	G	A	43585372	3	1	25	1	0	0	0	0	1	0	0	0	12659	1203	42	2		2	PSG6	19	43585372	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	705524	43585372	15543611	1181	23617											
RELB	5971	broad.mit.edu	37	chr19	45540995	45540995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgttccccaatcattacCgcgaggcggcctttgggggc	12	13	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:45540995C>T	uc002paj.1	+	13	1813	c.1687C>T	c.(1687-1689)CGC>TGC	p.R563C	SFRS16_uc002pak.2_5'Flank|SFRS16_uc002pal.2_5'Flank|SFRS16_uc010xxh.1_5'Flank|SFRS16_uc002pam.2_5'Flank|SFRS16_uc002pan.1_5'Flank	NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B	563						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CAATCATTACCGCGAGGCGGC	0.697													T	45540995	C	T	45540995	3	4	25	1	0	0	0	0	1	0	0	0	13217	652	23	1	1725	1	RELB	19	45540995	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1955623	45540995	13587988	1182	23618											
ZNF296	162979	broad.mit.edu	37	chr19	45575762	45575762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccgtggtcccactgggcGtgacgcagcagcttccaggc	14	14	0	1	rs140362077	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:45575762G>A	uc002pao.2	-	3	582	c.525C>T	c.(523-525)CAC>CAT	p.H175H		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	175	C2H2-type 1.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCCACTGGGCGTGACGCAGCA	0.632													A	45575762	G	A	45575762	2	1	25	1	0	0	0	0	0	0	0	1	17825	1136	40	1		1	ZNF296	19	45575762	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	34767	45575762	13553221	1183	23619											
RTN2	6253	broad.mit.edu	37	chr19	45989353	45989353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgattggtcaccaaccccaCatattggtcgatctgagcct	8	13	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:45989353C>T	uc002pcb.2	-	10	1744	c.1516G>A	c.(1516-1518)GTG>ATG	p.V506M	RTN2_uc002pcc.2_Missense_Mutation_p.V433M|RTN2_uc002pcd.2_RNA	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	506	Reticulon.					integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		ACCAACCCCACATATTGGTCG	0.532											OREG0025555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	45989353	C	T	45989353	3	4	25	1	0	0	0	0	1	0	0	0	13726	478	17	4	129	4	RTN2	19	45989353	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	413591	45989353	13139630	1184	23620											
OPA3	80207	broad.mit.edu	37	chr19	46088103	46088103	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcctcccccgccctctcGtggccatgcgtgcgtcagta	9	19	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:46088103G>A	uc002pck.3	-	1	20	c.-80C>T	c.(-82--78)CACGA>CATGA		OPA3_uc002pcj.3_Translation_Start_Site|OPA3_uc010xxk.1_Intron	NM_025136	NP_079412	Q9H6K4	OPA3_HUMAN	OPA3 protein isoform b						response to stimulus|visual perception	mitochondrion					0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CCGCCCTCTCGTGGCCATGCG	0.652													A	46088103	G	A	46088103	1	1	25	1	0	0	0	0	0	0	0	0	10872	1160	40	1		1	OPA3	19	46088103	Translation_Start_Site	SNP	G	TCGA-BR-4370-01A-01D-1158-08	98750	46088103	13040880	1185	23621											
FBXO46	23403	broad.mit.edu	37	chr19	46215117	46215117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagggcttggggtgccagCggcagagcgacacgtcgccc	18	12	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:46215117C>T	uc002pcy.2	-	2	1762	c.1637G>A	c.(1636-1638)CGC>CAC	p.R546H	FBXO46_uc002pcz.2_Missense_Mutation_p.R546H	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	546							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGGGTGCCAGCGGCAGAGCGA	0.667													T	46215117	C	T	46215117	3	4	25	1	0	0	0	0	1	0	0	0	5755	768	27	1	178	1	FBXO46	19	46215117	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	127014	46215117	12913866	1186	23622											
PGLYRP1	8993	broad.mit.edu	37	chr19	46526000	46526000	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgccacactcacttgtagcCcacgtcgcaccagcccagtg	8	18	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:46526000C>G	uc002pdx.1	-	1	324	c.280G>C	c.(280-282)GGC>CGC	p.G94R		NM_005091	NP_005082	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1 precursor	94					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(2)	2		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		CACTTGTAGCCCACGTCGCAC	0.662													G	46526000	C	G	46526000	3	3	25	1	0	0	0	0	1	0	0	0	11793	623	22	5	322	5	PGLYRP1	19	46526000	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	310883	46526000	12602983	1187	23623											
LIG1	3978	broad.mit.edu	37	chr19	48620961	48620961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttcacctcccacacagcGctggggtccagccagtggtc	10	17	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:48620961G>A	uc002pia.1	-	26	2637	c.2517C>T	c.(2515-2517)AGC>AGT	p.S839S	LIG1_uc010xze.1_Silent_p.S532S|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Silent_p.S771S|LIG1_uc010xzg.1_Silent_p.S808S	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	839					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCCACACAGCGCTGGGGTCCA	0.662								NER					A	48620961	G	A	48620961	2	1	25	1	0	0	0	0	0	0	0	1	8781	1078	38	1		1	LIG1	19	48620961	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2094961	48620961	10508022	1188	23624											
GRIN2D	2906	broad.mit.edu	37	chr19	48919411	48919411	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtccccctcggccttcctCggtaatctggggccctggga	13	15	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:48919411C>T	uc002pjc.3	+	7	1822	c.1734C>T	c.(1732-1734)CTC>CTT	p.L578L		NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	578	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CGGCCTTCCTCGGTAATCTGG	0.527													T	48919411	C	T	48919411	2	4	25	1	0	0	0	0	0	0	0	1	6782	898	31	1		1	GRIN2D	19	48919411	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	298450	48919411	10209572	1189	23625											
FUT1	2523	broad.mit.edu	37	chr19	49254356	49254356	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggaggcgttggggcccatCgcagtacccggcaggcagaa	17	11	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:49254356C>T	uc002pkk.2	-	4	1158	c.183G>A	c.(181-183)GCG>GCA	p.A61A		NM_000148	NP_000139	P19526	FUT1_HUMAN	fucosyltransferase 1	61	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			ovary(1)	1		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		TGGGGCCCATCGCAGTACCCG	0.622													T	49254356	C	T	49254356	2	4	25	1	0	0	0	0	0	0	0	1	6101	871	31	1		1	FUT1	19	49254356	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	334945	49254356	9874627	1190	23626											
HSD17B14	51171	broad.mit.edu	37	chr19	49316984	49316985	+	Frame_Shift_Ins	INS	-	-	C													ttggtcatggctgttactgcINScccctgcaggaaatggagcg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:49316983_49316984G>GC	uc002pkv.1	-	6	744_745	c.478_479C>GC	c.(478-480)gcafs	p.A160fs	BCAT2_uc002pkq.4_5'Flank|BCAT2_uc002pks.3_5'Flank|BCAT2_uc002pkr.3_5'Flank|BCAT2_uc002pkt.3_5'Flank|BCAT2_uc010emh.2_5'Flank|BCAT2_uc010emi.2_5'Flank|BCAT2_uc010emj.2_5'Flank|HSD17B14_uc010emk.1_Frame_Shift_Ins_p.A160fs	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 14 (HSD17B14), mRNA.	160					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		GGCTGTTACTGCCCCCTGCAGG	0.604													C	49316985	-	C	49316984	7	5	25	1	0	1	1	0	0	0	0	0	7383	739	26	0	346	0	HSD17B14	19	49316984	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	62628	49316984	9811999	1191	23627											
PPFIA3	8541	broad.mit.edu	37	chr19	49646088	49646088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcatgcctgcctggtatGtggccgcctgccgggccaat	15	13	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:49646088G>A	uc002pmr.2	+	21	2904	c.2572G>A	c.(2572-2574)GTG>ATG	p.V858M	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.V726M|PPFIA3_uc002pmt.2_Missense_Mutation_p.V6M	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	858	SAM 1.					cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TGCCTGGTATGTGGCCGCCTG	0.438													A	49646088	G	A	49646088	3	1	25	1	0	0	0	0	1	0	0	0	12311	1377	48	4	2650	4	PPFIA3	19	49646088	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	329104	49646088	9482895	1192	23628											
RCN3	57333	broad.mit.edu	37	chr19	50031892	50031892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccacgggaacttccagtacGaccatgaggctttcctggga	11	13	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:50031892G>A	uc002poj.2	+	2	610	c.163G>A	c.(163-165)GAC>AAC	p.D55N		NM_020650	NP_065701	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	55						endoplasmic reticulum lumen	calcium ion binding|protein binding			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		CTTCCAGTACGACCATGAGGC	0.642													A	50031892	G	A	50031892	3	1	25	1	0	0	0	0	1	0	0	0	13181	1058	37	1	165	1	RCN3	19	50031892	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	385804	50031892	9097091	1193	23629											
FUZ	80199	broad.mit.edu	37	chr19	50312814	50312814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgtgcccgcggcctcagCgaacccggagagggcttcct	15	15	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:50312814C>T	uc002ppq.1	-	6	616	c.511G>A	c.(511-513)GCT>ACT	p.A171T	FUZ_uc002ppr.1_Missense_Mutation_p.A71T|FUZ_uc002pps.1_RNA|FUZ_uc002ppt.1_RNA|FUZ_uc002ppu.1_Missense_Mutation_p.A135T|FUZ_uc002ppv.1_Missense_Mutation_p.A121T	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	fuzzy homolog	171					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		GCGGCCTCAGCGAACCCGGAG	0.687													T	50312814	C	T	50312814	3	4	25	1	0	0	0	0	1	0	0	0	6112	768	27	1	769	1	FUZ	19	50312814	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	280922	50312814	8816169	1194	23630											
NAPSA	9476	broad.mit.edu	37	chr19	50864364	50864364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctcccagagagcctcccCgaaaatcactgatgcaccct	9	16	1	2	rs141372464		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:50864364C>T	uc002prx.2	-	5	555	c.502G>A	c.(502-504)GGG>AGG	p.G168R	NR1H2_uc002prv.3_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	napsin A preproprotein	168					proteolysis	extracellular region	aspartic-type endopeptidase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		AGAGCCTCCCCGAAAATCACT	0.517													T	50864364	C	T	50864364	3	4	25	1	0	0	0	0	1	0	0	0	10166	652	23	1	780	1	NAPSA	19	50864364	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	551550	50864364	8264619	1195	23631											
KLK6	5653	broad.mit.edu	37	chr19	51466663	51466663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagagagtttggctgggcGtgccaggcgcaacagcatga	15	9	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:51466663G>A	uc002pui.2	-	5	600	c.340C>T	c.(340-342)CGC>TGC	p.R114C	KLK6_uc010eoj.2_Intron|KLK6_uc002puh.2_Missense_Mutation_p.R123C|KLK6_uc002puj.2_Missense_Mutation_p.R7C|KLK6_uc010ycn.1_Missense_Mutation_p.R7C|KLK6_uc002pul.2_Missense_Mutation_p.R114C|KLK6_uc002pum.2_Missense_Mutation_p.R7C	NM_001012964	NP_001012982	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6 isoform A	114	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TTGGCTGGGCGTGCCAGGCGC	0.612													A	51466663	G	A	51466663	3	1	25	1	0	0	0	0	1	0	0	0	8408	1145	40	1	406	1	KLK6	19	51466663	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	602299	51466663	7662320	1196	23632											
SIGLEC10	89790	broad.mit.edu	37	chr19	51918646	51918646	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaccaggcacaggctttgGccctccagtactgggagaga	13	12	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:51918646G>A	uc002pwo.2	-	7	1735	c.1119C>T	c.(1117-1119)GGC>GGT	p.G373G	SIGLEC10_uc002pwp.2_Silent_p.G315G|SIGLEC10_uc002pwq.2_Silent_p.G315G|SIGLEC10_uc002pwr.2_Silent_p.G373G|SIGLEC10_uc010ycy.1_Silent_p.G283G|SIGLEC10_uc010ycz.1_Silent_p.G325G|SIGLEC10_uc010eow.2_Silent_p.G185G|SIGLEC10_uc002pws.1_Silent_p.G209G	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	373	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		ACAGGCTTTGGCCCTCCAGTA	0.627													A	51918646	G	A	51918646	2	1	25	1	0	0	0	0	0	0	0	1	14306	1190	42	2		2	SIGLEC10	19	51918646	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	451983	51918646	7210337	1197	23633											
ZNF665	79788	broad.mit.edu	37	chr19	53669090	53669090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggattgttaggtttgaaCgaacagtaaaggctttgcca	12	5	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:53669090C>T	uc010eqm.1	-	4	753	c.653G>A	c.(652-654)CGT>CAT	p.R218H		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	153	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		TAGGTTTGAACGAACAGTAAA	0.403													T	53669090	C	T	53669090	3	4	25	1	0	0	0	0	1	0	0	0	18070	536	19	1	1387	1	ZNF665	19	53669090	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1750444	53669090	5459893	1198	23634											
PRPF31	26121	broad.mit.edu	37	chr19	54625258	54625258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgggaccagtggaggcCgcgcctgaataccgcgtcat	15	11	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:54625258C>T	uc002qdh.2	+	4	654	c.258C>T	c.(256-258)GCC>GCT	p.A86A	PRPF31_uc010yek.1_Silent_p.A86A	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31 homolog	86					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			ovary(1)	1	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAGTGGAGGCCGCGCCTGAAT	0.622													T	54625258	C	T	54625258	2	4	25	1	0	0	0	0	0	0	0	1	12566	639	23	1		1	PRPF31	19	54625258	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	956168	54625258	4503725	1199	23635											
TTYH1	57348	broad.mit.edu	37	chr19	54930393	54930393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccgcttctgctgctgccGgccccccgagccccccgggt	11	21	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:54930393G>A	uc002qfq.2	+	2	310	c.218G>A	c.(217-219)CGG>CAG	p.R73Q	TTYH1_uc010yey.1_Missense_Mutation_p.R122Q|TTYH1_uc002qfr.2_Missense_Mutation_p.R73Q|TTYH1_uc002qft.2_Missense_Mutation_p.R73Q|TTYH1_uc002qfu.1_5'UTR	NM_020659	NP_065710	Q9H313	TTYH1_HUMAN	tweety 1 isoform 1	73	Cytoplasmic (Potential).				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TGCTGCTGCCGGCCCCCCGAG	0.692													A	54930393	G	A	54930393	3	1	25	1	0	0	0	0	1	0	0	0	16736	1116	39	1	224	1	TTYH1	19	54930393	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	305135	54930393	4198590	1200	23636											
NLRP7	199713	broad.mit.edu	37	chr19	55450873	55450873	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtcggactcctgcaccccGagcctttccaggtcctctcg	10	17	1	0	rs146862541		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:55450873G>A	uc002qih.3	-	4	1390	c.1314C>T	c.(1312-1314)CTC>CTT	p.L438L	NLRP7_uc002qig.3_Silent_p.L438L|NLRP7_uc002qii.3_Silent_p.L438L|NLRP7_uc010esk.2_Silent_p.L438L|NLRP7_uc010esl.2_Silent_p.L466L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	438	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		CCTGCACCCCGAGCCTTTCCA	0.667													A	55450873	G	A	55450873	2	1	25	1	0	0	0	0	0	0	0	1	10482	1045	37	1		1	NLRP7	19	55450873	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	520480	55450873	3678110	1201	23637											
U2AF2	11338	broad.mit.edu	37	chr19	56173906	56173906	+	Frame_Shift_Del	DEL	G	G	-													ttcaacgcccagatgcgcctGggggggctgacccaggcccc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:56173905_56173905TG>T	uc002qlu.3	+	5	1579	c.524_524TG>T	c.(523-525)ctgfs	p.L175fs	U2AF2_uc002qlt.3_Frame_Shift_Del_p.L175fs	NM_007279	NP_009210	P26368	U2AF2_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.	175	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CAGATGCGCCTGGGGGGGCTG	0.602													-	56173906	G	-	56173906	7	5	25	1	0	1	0	1	0	0	0	0	16820	1335	47	0	547	0	U2AF2	19	56173906	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	723033	56173906	2955077	1202	23638											
NLRP9	338321	broad.mit.edu	37	chr19	56241264	56241264	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatcgccagggagggatcatCaaggctggtattttccatgt	12	8	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:56241264C>T	uc002qly.2	-	3	1955	c.1927G>A	c.(1927-1929)GAT>AAT	p.D643N		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	643						cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GAGGGATCATCAAGGCTGGTA	0.423													T	56241264	C	T	56241264	3	4	25	1	0	0	0	0	1	0	0	0	10484	826	29	4	1076	4	NLRP9	19	56241264	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	67358	56241264	2887719	1203	23639											
ZNF71	58491	broad.mit.edu	37	chr19	57133642	57133642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaagccctacgtgtgcggCgagtgcggcaaggccttcag	16	11	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:57133642C>T	uc002qnm.3	+	3	1225	c.987C>T	c.(985-987)GGC>GGT	p.G329G		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	329	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ACGTGTGCGGCGAGTGCGGCA	0.642													T	57133642	C	T	57133642	2	4	25	1	0	0	0	0	0	0	0	1	18111	755	27	1		1	ZNF71	19	57133642	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	892378	57133642	1995341	1204	23640											
ZNF835	90485	broad.mit.edu	37	chr19	57175745	57175745	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgcagcggtagggcttctcCtccgtgtggatgcgctggtg	16	12	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:57175745C>A	uc010ygo.1	-	2	888	c.888G>T	c.(886-888)GAG>GAT	p.E296D	ZNF835_uc010ygn.1_Missense_Mutation_p.E274D	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						AGGGCTTCTCCTCCGTGTGGA	0.682													A	57175745	C	A	57175745	3	1	25	1	0	0	0	0	1	0	0	0	18183	680	24	5	793	5	ZNF835	19	57175745	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	42103	57175745	1953238	1205	23641											
ZNF671	79891	broad.mit.edu	37	chr19	58232172	58232172	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggccttcccacattcacTgcactcataaggcctttctc	5	15	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:58232172T>C	uc002qpz.3	-	4	1381	c.1282A>G	c.(1282-1284)AGT>GGT	p.S428G	ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.S351G|ZNF671_uc010yhf.1_Missense_Mutation_p.S330G	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	428	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCACATTCACTGCACTCATAA	0.468													C	58232172	T	C	58232172	3	2	25	1	0	0	0	0	1	0	0	0	18075	1580	55	3	326	3	ZNF671	19	58232172	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	1056427	58232172	896811	1206	23642											
SLC27A5	10998	broad.mit.edu	37	chr19	59021257	59021257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacgacaagtcccatcacGtggtacagaggcaggaccgt	11	13	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:59021257G>A	uc002qtc.2	-	3	1124	c.1014C>T	c.(1012-1014)CAC>CAT	p.H338H		NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid	338	Cytoplasmic (Probable).				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GTCCCATCACGTGGTACAGAG	0.562													A	59021257	G	A	59021257	2	1	25	1	0	0	0	0	0	0	0	1	14529	1136	40	1		1	SLC27A5	19	59021257	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	789085	59021257	107726	1207	23643											
ZBTB45	84878	broad.mit.edu	37	chr19	59028288	59028288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggggctcctcgcacgcGctgtcagcagcagcagtgag	16	13	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:59028288G>A	uc002qtd.2	-	2	1045	c.753C>T	c.(751-753)AGC>AGT	p.S251S	ZBTB45_uc002qte.2_Silent_p.S251S|ZBTB45_uc002qtf.2_Silent_p.S251S	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CCTCGCACGCGCTGTCAGCAG	0.652											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	59028288	G	A	59028288	2	1	25	1	0	0	0	0	0	0	0	1	17543	1078	38	1		1	ZBTB45	19	59028288	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	7031	59028288	100695	1208	23644											
SIRPD	128646	broad.mit.edu	37	chr20	1532450	1532450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagagagatttcacggatgCgggtggaaaagtctgtgttg	15	5	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:1532450C>T	uc002wfi.2	-	2	352	c.308G>A	c.(307-309)CGC>CAC	p.R103H		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	signal-regulatory protein delta precursor	103	Ig-like V-type.					extracellular region				ovary(1)|kidney(1)|skin(1)	3						TTCACGGATGCGGGTGGAAAA	0.458													T	1532450	C	T	1532450	3	4	25	1	0	0	0	0	1	0	0	0	14335	768	27	1	297	1	SIRPD	20	1532450	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08		1532450	61493070	1209	23645											
RNF24	11237	broad.mit.edu	37	chr20	3914747	3914747	+	Frame_Shift_Del	DEL	G	G	-													ccccaggaaggggcccctgaGggggtccacggtcctgctta							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:3914746_3914746AG>A	uc002wkj.2	-	5	551	c.411_411CT>T	c.(409-411)cctfs	p.P137fs	RNF24_uc002wkh.2_Frame_Shift_Del_p.P137fs|RNF24_uc002wki.2_Frame_Shift_Del_p.P158fs	NM_001134337	NP_009150	Q9Y225	RNF24_HUMAN	Homo sapiens ring finger protein 24 (RNF24), transcript variant 2, mRNA.	137						Golgi membrane|integral to membrane	zinc ion binding			large_intestine(1)|upper_aerodigestive_tract(1)	2						GGGGCCCCTGAGGGGGTCCAC	0.557													-	3914747	G	-	3914747	7	5	25	1	0	1	0	1	0	0	0	0	13484	1000	35	0	40	0	RNF24	20	3914747	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	2382297	3914747	59110773	1210	23646											
HAO1	54363	broad.mit.edu	37	chr20	7875863	7875863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtttaacagcctccctggCatcatcacctggagagagta	9	11	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:7875863C>T	uc002wmw.1	-	5	754	c.730G>A	c.(730-732)GCC>ACC	p.A244T	HAO1_uc010gbu.2_Missense_Mutation_p.A244T	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase 1	244	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			ovary(3)	3						GCCTCCCTGGCATCATCACCT	0.512													T	7875863	C	T	7875863	3	4	25	1	0	0	0	0	1	0	0	0	6951	710	25	2	398	2	HAO1	20	7875863	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3961116	7875863	55149657	1211	23647											
PLCB1	23236	broad.mit.edu	37	chr20	8696934	8696934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcagcaagccaagatggCggagtactgccgactgatct	12	10	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:8696934C>T	uc002wnb.2	+	13	1277	c.1274C>T	c.(1273-1275)GCG>GTG	p.A425V	PLCB1_uc010zrb.1_Missense_Mutation_p.A324V|PLCB1_uc002wna.2_Missense_Mutation_p.A425V|PLCB1_uc002wnc.1_Missense_Mutation_p.A324V|PLCB1_uc002wnd.1_Missense_Mutation_p.A2V	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	425	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						GCCAAGATGGCGGAGTACTGC	0.468													T	8696934	C	T	8696934	3	4	25	1	0	0	0	0	1	0	0	0	12027	768	27	1	1324	1	PLCB1	20	8696934	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	821071	8696934	54328586	1212	23648											
SPTLC3	55304	broad.mit.edu	37	chr20	13071817	13071817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctttgggatgggattcGcaactaactcaatgaatatc	10	7	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:13071817G>A	uc002wod.1	+	5	983	c.694G>A	c.(694-696)GCA>ACA	p.A232T		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	232					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)	GATGGGATTCGCAACTAACTC	0.413													A	13071817	G	A	13071817	3	1	25	1	0	0	0	0	1	0	0	0	15124	1087	38	1	712	1	SPTLC3	20	13071817	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	4374883	13071817	49953703	1213	23649											
SEL1L2	80343	broad.mit.edu	37	chr20	13847380	13847380	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgcatgatcttactactcCtgttcctgttgcatacatct	5	12	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:13847380C>A	uc010gcf.2	-	15	1454	c.1372G>T	c.(1372-1374)GGA>TGA	p.G458*	SEL1L2_uc002woq.3_Nonsense_Mutation_p.G319*|SEL1L2_uc010zrl.1_Nonsense_Mutation_p.G458*|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	458	Extracellular (Potential).|Sel1-like 9.					integral to membrane	binding			ovary(2)	2						CTTACTACTCCTGTTCCTGTT	0.408													A	13847380	C	A	13847380	4	1	25	1	0	0	0	0	0	1	0	0	14011	690	24	5	718	5	SEL1L2	20	13847380	Nonsense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	775563	13847380	49178140	1214	23650											
FLRT3	23767	broad.mit.edu	37	chr20	14306569	14306569	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaatgatggcagccaaAggtaaattggggtttttgta	11	7	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:14306569A>C	uc002wov.1	-	3	2051	c.1584T>G	c.(1582-1584)CCT>CCG	p.P528P	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Silent_p.P528P	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	528	Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TGGCAGCCAAAGGTAAATTGG	0.463													C	14306569	A	C	14306569	2	2	25	1	0	0	0	0	0	0	0	1	5940	59	3	5		5	FLRT3	20	14306569	Silent	SNP	A	TCGA-BR-4370-01A-01D-1158-08	459189	14306569	48718951	1215	23651											
RALGAPA2	57186	broad.mit.edu	37	chr20	20501723	20501724	+	Frame_Shift_Ins	INS	-	-	CA													tgggtgtacgtgcttgagccINSacacacacagcagtgcaaaa							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:20501722_20501723C>CCA	uc002wrz.3	-	30	4065_4066	c.3922_3923G>TGG	c.(3922-3924)ggcfs	p.G1308fs	RALGAPA2_uc002wry.3_Frame_Shift_Ins_p.G923fs|RALGAPA2_uc010zsg.2_Frame_Shift_Ins_p.G756fs|RALGAPA2_uc002wsa.1_Frame_Shift_Ins_p.G80fs	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1308					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CGTGCTTGAGCCACACACACAG	0.53													CA	20501724	-	CA	20501723	7	5	25	1	0	1	1	0	0	0	0	0	13014	594	21	0	1735	0	RALGAPA2	20	20501723	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	6195154	20501723	42523797	1216	23652											
PAX1	5075	broad.mit.edu	37	chr20	21687260	21687260	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcgcgctacaacgagacCggctccattctgcccggggc	13	16	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:21687260C>T	uc002wsj.2	+	2	525	c.471C>T	c.(469-471)ACC>ACT	p.T157T	PAX1_uc010zsl.1_Silent_p.T157T|PAX1_uc010zsm.1_Silent_p.T133T	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	157	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						ACAACGAGACCGGCTCCATTC	0.657													T	21687260	C	T	21687260	2	4	25	1	0	0	0	0	0	0	0	1	11478	639	23	1		1	PAX1	20	21687260	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1185537	21687260	41338260	1217	23653											
PDRG1	81572	broad.mit.edu	37	chr20	30533657	30533657	+	Frame_Shift_Del	DEL	G	G	-													tttaagctcatcctggttgaGggggttcaagttaaaaccct							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:30533656_30533656AG>A	uc002wxd.3	-	4	475	c.356_356CT>T	c.(355-357)ctcfs	p.L119fs		NM_030815	NP_110442	Q9NUG6	PDRG1_HUMAN	Homo sapiens p53 and DNA-damage regulated 1 (PDRG1), mRNA.	119					protein folding	prefoldin complex	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	8			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATCCTGGTTGAGGGGGTTCAA	0.557													-	30533657	G	-	30533657	7	5	25	1	0	1	0	1	0	0	0	0	11690	1000	35	0	50	0	PDRG1	20	30533657	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	8846397	30533657	32491863	1218	23654											
XKR7	343702	broad.mit.edu	37	chr20	30585220	30585220	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgcagtaccggagtgtggGgacttcccaggagctgctgg	17	9	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:30585220G>T	uc002wxe.2	+	3	1874	c.1700G>T	c.(1699-1701)GGG>GTG	p.G567V		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	567						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CGGAGTGTGGGGACTTCCCAG	0.597													T	30585220	G	T	30585220	3	4	25	1	0	0	0	0	1	0	0	0	17433	1232	43	5	1710	5	XKR7	20	30585220	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	51563	30585220	32440300	1219	23655											
DNMT3B	1789	broad.mit.edu	37	chr20	31386314	31386314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgggcacaggcacagcGgccgaggccaagcttcagga	16	12	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:31386314G>A	uc002wyc.2	+	15	1860	c.1539G>A	c.(1537-1539)GCG>GCA	p.A513A	DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Silent_p.A493A|DNMT3B_uc002wye.2_Silent_p.A493A|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Silent_p.A451A|DNMT3B_uc010zua.1_Silent_p.A417A|DNMT3B_uc002wyf.2_Silent_p.A505A|DNMT3B_uc002wyg.2_Silent_p.A212A|DNMT3B_uc010geg.2_5'Flank|DNMT3B_uc010geh.2_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	513	PHD-type; atypical.|Interaction with the PRC2/EED-EZH2 complex (By similarity).|ADD.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5						CAGGCACAGCGGCCGAGGCCA	0.642													A	31386314	G	A	31386314	2	1	25	1	0	0	0	0	0	0	0	1	4677	1103	39	1		1	DNMT3B	20	31386314	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	801094	31386314	31639206	1220	23656											
BPIL3	128859	broad.mit.edu	37	chr20	31619533	31619533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggcactgctgcggttggGcatggacatcatgaaccgtg	16	9	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:31619533G>A	uc010zuc.1	+	1	80	c.80G>A	c.(79-81)GGC>GAC	p.G27D	BPIL3_uc010zud.1_5'UTR	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	bactericidal/permeability-increasing	27						extracellular region	lipid binding			ovary(1)|pancreas(1)	2						CTGCGGTTGGGCATGGACATC	0.647													A	31619533	G	A	31619533	3	1	25	1	0	0	0	0	1	0	0	0	1493	1203	42	2	82	2	BPIL3	20	31619533	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	233219	31619533	31405987	1221	23657											
C20orf117	140710	broad.mit.edu	37	chr20	35444561	35444561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcctcggctgacagcgcGctgtccaggtccccatagag	12	15	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:35444561G>A	uc002xgd.1	-	5	897	c.570C>T	c.(568-570)AGC>AGT	p.S190S	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	190											0		Myeloproliferative disorder(115;0.00874)				CTGACAGCGCGCTGTCCAGGT	0.617													A	35444561	G	A	35444561	2	1	25	1	0	0	0	0	0	0	0	1	2083	1078	38	1		1	C20orf117	20	35444561	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3825028	35444561	27580959	1222	23658											
KIAA1755	85449	broad.mit.edu	37	chr20	36841597	36841597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtggcaagcaaatgctcGcgggcagggtcaggcagctt	17	9	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:36841597G>A	uc002xhy.1	-	14	3722	c.3450C>T	c.(3448-3450)CGC>CGT	p.R1150R	KIAA1755_uc002xhv.1_Silent_p.R214R|KIAA1755_uc002xhw.1_Silent_p.R205R|KIAA1755_uc002xhx.1_Silent_p.R428R	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	1150										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)				GCAAATGCTCGCGGGCAGGGT	0.642													A	36841597	G	A	36841597	2	1	25	1	0	0	0	0	0	0	0	1	8257	1074	38	1		1	KIAA1755	20	36841597	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1397036	36841597	26183923	1223	23659											
SLC32A1	140679	broad.mit.edu	37	chr20	37356214	37356214	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatcctcatcgcgtgcctGtacgaggagaatgaagacgg	13	9	1	4			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:37356214G>A	uc002xjc.2	+	2	773	c.510G>A	c.(508-510)CTG>CTA	p.L170L		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	170	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TCGCGTGCCTGTACGAGGAGA	0.647													A	37356214	G	A	37356214	2	1	25	1	0	0	0	0	0	0	0	1	14565	1364	48	4		4	SLC32A1	20	37356214	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	514617	37356214	25669306	1224	23660											
ZHX3	23051	broad.mit.edu	37	chr20	39832436	39832436	+	Frame_Shift_Del	DEL	T	T	-													ggatgactgtattgaacatcTttttccgggcatcctcaatc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:39832435_39832435CT>C	uc010ggg.1	-	0	1272	c.1122_1122AG>G	c.(1120-1122)aagfs	p.K374fs	ZHX3_uc002xjr.1_Frame_Shift_Del_p.K374fs|ZHX3_uc002xjs.1_Frame_Shift_Del_p.K374fs|ZHX3_uc002xjt.1_Frame_Shift_Del_p.K374fs|ZHX3_uc002xju.1_Frame_Shift_Del_p.K374fs|ZHX3_uc002xjv.1_Frame_Shift_Del_p.K374fs|ZHX3_uc002xjw.1_Frame_Shift_Del_p.K374fs	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	Homo sapiens zinc fingers and homeoboxes 3 (ZHX3), mRNA.	374	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TATTGAACATCTTTTTCCGGG	0.522													-	39832436	T	-	39832436	7	5	25	1	0	1	0	1	0	0	0	0	17674	1609	56	0	1757	0	ZHX3	20	39832436	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	2476222	39832436	23193084	1225	23661											
MMP9	4318	broad.mit.edu	37	chr20	44639240	44639240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcgtgtacagccgggacGcagacatcgtcatccagttt	11	13	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:44639240G>A	uc002xqz.2	+	3	509	c.490G>A	c.(490-492)GCA>ACA	p.A164T		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	164					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CAGCCGGGACGCAGACATCGT	0.642													A	44639240	G	A	44639240	3	1	25	1	0	0	0	0	1	0	0	0	9669	1087	38	1	500	1	MMP9	20	44639240	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	4806804	44639240	18386280	1226	23662											
SLC35C2	51006	broad.mit.edu	37	chr20	44987182	44987182	+	Frame_Shift_Del	DEL	G	G	-													accggagctcctgagtcagcGggggcaggcacccctcttga							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:44987181_44987181CG>C	uc010zxp.2	-	2	145	c.52_52CG>G	c.(52-54)gctfs	p.A18fs	SLC35C2_uc002xro.3_5'UTR|SLC35C2_uc002xrp.3_5'UTR|SLC35C2_uc002xrq.3_5'UTR|SLC35C2_uc002xrr.3_5'UTR|SLC35C2_uc010zxn.2_5'UTR|SLC35C2_uc010zxo.2_5'UTR	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA.	0					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				CCTGAGTCAGCGGGGGCAGGC	0.617													-	44987182	G	-	44987182	7	5	25	1	0	1	0	1	0	0	0	0	14580	1131	39	0		0	SLC35C2	20	44987182	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	347942	44987182	18038338	1227	23663											
SLC2A10	81031	broad.mit.edu	37	chr20	45353775	45353775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcatatcaggtgccctgCtgccactgcagcttgacttt	9	13	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:45353775C>T	uc002xsl.2	+	2	197	c.100C>T	c.(100-102)CTG>TTG	p.L34L		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	34	Helical; Name=1; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				AGGTGCCCTGCTGCCACTGCA	0.592													T	45353775	C	T	45353775	2	4	25	1	0	0	0	0	0	0	0	1	14539	796	28	2		2	SLC2A10	20	45353775	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	366593	45353775	17671745	1228	23664											
ZMYND8	23613	broad.mit.edu	37	chr20	45853197	45853197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggctctgccgcatctccGccatggtcagctctggtgga	12	15	4	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:45853197G>A	uc002xta.1	-	19	3223	c.2969C>T	c.(2968-2970)GCG>GTG	p.A990V	ZMYND8_uc010ghq.1_Missense_Mutation_p.A621V|ZMYND8_uc010ghr.1_Missense_Mutation_p.A892V|ZMYND8_uc002xst.1_Missense_Mutation_p.A872V|ZMYND8_uc002xsu.1_Missense_Mutation_p.A863V|ZMYND8_uc002xsv.1_Missense_Mutation_p.A918V|ZMYND8_uc002xsw.1_Missense_Mutation_p.A696V|ZMYND8_uc002xsx.1_Missense_Mutation_p.A696V|ZMYND8_uc002xsy.1_Missense_Mutation_p.A919V|ZMYND8_uc002xsz.1_Missense_Mutation_p.A881V|ZMYND8_uc010zxy.1_Missense_Mutation_p.A1017V|ZMYND8_uc002xtb.1_Missense_Mutation_p.A964V|ZMYND8_uc002xss.2_Missense_Mutation_p.A990V|ZMYND8_uc010zxz.1_Missense_Mutation_p.A858V|ZMYND8_uc002xtc.1_Missense_Mutation_p.A964V|ZMYND8_uc002xtd.1_Missense_Mutation_p.A939V|ZMYND8_uc002xte.1_Missense_Mutation_p.A944V|ZMYND8_uc010zya.1_Missense_Mutation_p.A990V|ZMYND8_uc002xtf.1_Missense_Mutation_p.A1010V|ZMYND8_uc002xsr.1_Missense_Mutation_p.A89V	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	990							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CCGCATCTCCGCCATGGTCAG	0.587													A	45853197	G	A	45853197	3	1	25	1	0	0	0	0	1	0	0	0	17708	1087	38	1	695	1	ZMYND8	20	45853197	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	499422	45853197	17172323	1229	23665											
ZMYND8	23613	broad.mit.edu	37	chr20	45878128	45878128	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagaggaacaggggtggaCtgttgctggaccgactcgct	16	8	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:45878128C>T	uc002xta.1	-	13	1871	c.1617G>A	c.(1615-1617)CAG>CAA	p.Q539Q	ZMYND8_uc010ghq.1_Silent_p.Q216Q|ZMYND8_uc010ghr.1_Silent_p.Q514Q|ZMYND8_uc002xst.1_Silent_p.Q467Q|ZMYND8_uc002xsu.1_Silent_p.Q539Q|ZMYND8_uc002xsv.1_Silent_p.Q467Q|ZMYND8_uc002xsw.1_Silent_p.Q291Q|ZMYND8_uc002xsx.1_Silent_p.Q291Q|ZMYND8_uc002xsy.1_Silent_p.Q514Q|ZMYND8_uc002xsz.1_Silent_p.Q476Q|ZMYND8_uc010zxy.1_Silent_p.Q566Q|ZMYND8_uc002xtb.1_Silent_p.Q559Q|ZMYND8_uc002xss.2_Silent_p.Q539Q|ZMYND8_uc010zxz.1_Silent_p.Q534Q|ZMYND8_uc002xtc.1_Silent_p.Q559Q|ZMYND8_uc002xtd.1_Silent_p.Q534Q|ZMYND8_uc002xte.1_Silent_p.Q539Q|ZMYND8_uc010zya.1_Silent_p.Q539Q|ZMYND8_uc002xtf.1_Silent_p.Q559Q|ZMYND8_uc002xtg.2_Silent_p.Q533Q|ZMYND8_uc010ghs.1_Silent_p.Q533Q	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	539							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CAGGGGTGGACTGTTGCTGGA	0.498													T	45878128	C	T	45878128	2	4	25	1	0	0	0	0	0	0	0	1	17708	564	20	4		4	ZMYND8	20	45878128	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	24931	45878128	17147392	1230	23666											
ADNP	23394	broad.mit.edu	37	chr20	49510461	49510461	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagcatcaagggtttggatcGgggaaccactacatttgtgt	12	7	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:49510461G>T	uc002xvt.1	-	5	1135	c.790C>A	c.(790-792)CGA>AGA	p.R264R	ADNP_uc002xvu.1_Silent_p.R264R	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	264						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						GGTTTGGATCGGGGAACCACT	0.488													T	49510461	G	T	49510461	2	4	25	1	0	0	0	0	0	0	0	1	323	1124	39	5		5	ADNP	20	49510461	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3632333	49510461	13515059	1231	23667											
SALL4	57167	broad.mit.edu	37	chr20	50407662	50407662	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagagtgcataggggatgcCattgccggccgccactttgt	14	10	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:50407662C>A	uc002xwh.3	-	2	1461	c.1360G>T	c.(1360-1362)GGC>TGC	p.G454C	SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	454					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TAGGGGATGCCATTGCCGGCC	0.547													A	50407662	C	A	50407662	3	1	25	1	0	0	0	0	1	0	0	0	13813	594	21	5	1813	5	SALL4	20	50407662	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	897201	50407662	12617858	1232	23668											
ZNF217	7764	broad.mit.edu	37	chr20	52199236	52199236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcggaatggaacaacagCggtccctttcattgacaagg	11	10	1	1	rs141827117		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:52199236C>T	uc002xwq.3	-	1	401	c.130G>A	c.(130-132)GCT>ACT	p.A44T	ZNF217_uc010gij.1_Missense_Mutation_p.A36T	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	44					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GGAACAACAGCGGTCCCTTTC	0.478													T	52199236	C	T	52199236	3	4	25	1	0	0	0	0	1	0	0	0	17769	768	27	1	3032	1	ZNF217	20	52199236	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1791574	52199236	10826284	1233	23669											
CTCFL	140690	broad.mit.edu	37	chr20	56099084	56099084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccacttcttcctccaggaCgctgtcctggaaggccccag	9	17	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:56099084C>T	uc010gix.1	-	1	840	c.178G>A	c.(178-180)GTC>ATC	p.V60I	CTCFL_uc010giw.1_Missense_Mutation_p.V60I|CTCFL_uc002xym.2_Missense_Mutation_p.V60I|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.V60I|CTCFL_uc010gjb.1_Missense_Mutation_p.V60I|CTCFL_uc010gjc.1_Missense_Mutation_p.V60I|CTCFL_uc010gjd.1_Missense_Mutation_p.V60I|CTCFL_uc010gje.2_Missense_Mutation_p.V60I|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.V60I|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Missense_Mutation_p.V60I|CTCFL_uc010gjk.1_Missense_Mutation_p.V60I|CTCFL_uc010gjl.1_Missense_Mutation_p.V60I	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	60					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCCTCCAGGACGCTGTCCTGG	0.592													T	56099084	C	T	56099084	3	4	25	1	0	0	0	0	1	0	0	0	4001	536	19	1	1853	1	CTCFL	20	56099084	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3899848	56099084	6926436	1234	23670											
PMEPA1	56937	broad.mit.edu	37	chr20	56227349	56227349	+	Frame_Shift_Del	DEL	G	G	-													ctgatgcccgagttactgctGggggggcaggggccgcccag							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:56227348_56227348TG>T	uc002xyq.3	-	3	1018	c.625_625CA>A	c.(625-627)agcfs	p.S209fs	PMEPA1_uc002xyr.3_Frame_Shift_Del_p.S159fs|PMEPA1_uc002xys.3_Frame_Shift_Del_p.S174fs|PMEPA1_uc002xyt.3_Frame_Shift_Del_p.S159fs	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	209					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GAGTTACTGCTGGGGGGGCAG	0.687													-	56227349	G	-	56227349	7	5	25	1	0	1	0	1	0	0	0	0	12132	1335	47	0	243	0	PMEPA1	20	56227349	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	128265	56227349	6798171	1235	23671											
APCDD1L	164284	broad.mit.edu	37	chr20	57035905	57035905	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaagtgggaagggggctaTgtgaagaccccctgtgctgg	17	8	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:57035905T>C	uc002xze.1	-	4	1633	c.1447A>G	c.(1447-1449)ATA>GTA	p.I483V	APCDD1L_uc010zzp.1_Missense_Mutation_p.I494V	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated	483	Helical; (Potential).					integral to membrane				ovary(1)	1	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			AAGGGGGCTATGTGAAGACCC	0.617													C	57035905	T	C	57035905	3	2	25	1	0	0	0	0	1	0	0	0	766	1464	51	3	62	3	APCDD1L	20	57035905	Missense_Mutation	SNP	T	TCGA-BR-4370-01A-01D-1158-08	808556	57035905	5989615	1236	23672											
SYCP2	10388	broad.mit.edu	37	chr20	58490593	58490593	+	Frame_Shift_Del	DEL	T	T	-													tttgtcaagcatagcattcaTtttttttataatctagaaaa							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:58490592_58490592AT>A	uc002yaz.3	-	7	666	c.527_527AT>T	c.(526-528)atgfs	p.M176fs	SYCP2_uc010gju.1_Frame_Shift_Del_p.M77fs	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	176					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CATAGCATTCATTTTTTTTAT	0.284													-	58490593	T	-	58490593	7	5	25	1	0	1	0	1	0	0	0	0	15429	1493	52	0	4214	0	SYCP2	20	58490593	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	1454688	58490593	4534927	1237	23673											
LAMA5	3911	broad.mit.edu	37	chr20	60895632	60895632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctggccgcctagccgccGtgcgtcctgcccgaggcttg	14	17	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:60895632G>A	uc002ycq.2	-	50	6809	c.6742C>T	c.(6742-6744)CGG>TGG	p.R2248W		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2248	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTAGCCGCCGTGCGTCCTGC	0.697													A	60895632	G	A	60895632	3	1	25	1	0	0	0	0	1	0	0	0	8609	1144	40	1	4469	1	LAMA5	20	60895632	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2405039	60895632	2129888	1238	23674											
CHRNA4	1137	broad.mit.edu	37	chr20	61981936	61981936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcacggagatgcacagcGtgatcttctcgccacactcg	11	14	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:61981936G>A	uc002yes.2	-	5	1005	c.827C>T	c.(826-828)ACG>ATG	p.T276M	CHRNA4_uc002yet.1_Missense_Mutation_p.T100M|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.T205M|CHRNA4_uc002yev.1_Missense_Mutation_p.T100M|CHRNA4_uc010gkf.1_Missense_Mutation_p.T100M	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	276	Helical; (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GATGCACAGCGTGATCTTCTC	0.592													A	61981936	G	A	61981936	3	1	25	1	0	0	0	0	1	0	0	0	3385	1145	40	1	1064	1	CHRNA4	20	61981936	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1086304	61981936	1043584	1239	23675											
ZGPAT	84619	broad.mit.edu	37	chr20	62365019	62365020	+	Frame_Shift_Ins	INS	-	-	C													ggagggggacggcatcctgcINSccccactgcgcacagaggcc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:62365018_62365019G>GC	uc002ygk.3	+	3	987_988	c.798_799G>GC	c.(796-801)ctgcccfs	p.L266fs	ZGPAT_uc002ygi.2_Frame_Shift_Ins_p.L266fs|ZGPAT_uc010gkk.2_Intron|ZGPAT_uc010gkl.2_Frame_Shift_Ins_p.L266fs|ZGPAT_uc002ygm.3_Frame_Shift_Ins_p.L266fs|ZGPAT_uc002ygj.2_Frame_Shift_Ins_p.L266fs|ZGPAT_uc002ygn.4_Non-coding_Transcript|ZGPAT_uc011abi.2_5'Flank|ZGPAT_uc002ygp.4_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.	266					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					ACGGCATCCTGCCCCCACTGCG	0.634													C	62365020	-	C	62365019	7	5	25	1	0	1	1	0	0	0	0	0	17671	739	26	0	809	0	ZGPAT	20	62365019	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	383083	62365019	660501	1240	23676											
ZBTB46	140685	broad.mit.edu	37	chr20	62407046	62407047	+	Frame_Shift_Ins	INS	-	-	C													ttacgggacagcgagtgggcINSccctctgggcaggtactcga							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:62407045_62407046G>GC	uc002ygv.2	-	2	1408_1409	c.1207_1208C>GC	c.(1207-1209)gccfs	p.A403fs	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CAGCGAGTGGGCCCCTCTGGGC	0.649											OREG0026130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	62407047	-	C	62407046	7	5	25	1	0	1	1	0	0	0	0	0	17544	739	26	0	574	0	ZBTB46	20	62407046	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	42027	62407046	618474	1241	23677											
KRTAP24-1	643803	broad.mit.edu	37	chr21	31655009	31655009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacaaccagtggtactgCaggtcttgggctcacagctg	13	11	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr21:31655009C>T	uc002ynv.2	-	1	268	c.242G>A	c.(241-243)TGC>TAC	p.C81Y		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	81						keratin filament	structural molecule activity				0						AGTGGTACTGCAGGTCTTGGG	0.498													T	31655009	C	T	31655009	3	4	25	1	0	0	0	0	1	0	0	0	8542	710	25	2	526	2	KRTAP24-1	21	31655009	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08		31655009	16474886	1242	23678											
KRTAP6-3	337968	broad.mit.edu	37	chr21	31965058	31965058	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggctgtggctataggtgCggctctggctatggctccag	16	9	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr21:31965058C>T	uc002yom.2	+	1	300	c.294C>T	c.(292-294)TGC>TGT	p.C98C		NM_181605	NP_853636			keratin associated protein 6-3												0						GCTATAGGTGCGGCTCTGGCT	0.353													T	31965058	C	T	31965058	2	4	25	1	0	0	0	0	0	0	0	1	8571	776	27	1		1	KRTAP6-3	21	31965058	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	310049	31965058	16164837	1243	23679											
SYNJ1	8867	broad.mit.edu	37	chr21	34058147	34058147	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acactatgtaatttttctgcCtttcctcccttaaccatttg	3	12	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr21:34058147C>A	uc002yqh.2	-	9	1146	c.1146G>T	c.(1144-1146)AAG>AAT	p.K382N	SYNJ1_uc011ads.1_Missense_Mutation_p.K343N|SYNJ1_uc002yqf.2_Missense_Mutation_p.K343N|SYNJ1_uc002yqg.2_Missense_Mutation_p.K343N|SYNJ1_uc002yqi.2_Missense_Mutation_p.K382N	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	343	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						ATTTTTCTGCCTTTCCTCCCT	0.338													A	34058147	C	A	34058147	3	1	25	1	0	0	0	0	1	0	0	0	15449	680	24	5	3822	5	SYNJ1	21	34058147	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2093089	34058147	14071748	1244	23680											
RCAN1	1827	broad.mit.edu	37	chr21	35890534	35890534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagtggtgtcagtcgctgCgtgcaattcatacttttccc	12	10	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr21:35890534C>T	uc002yue.2	-	4	679	c.607G>A	c.(607-609)GCA>ACA	p.A203T	RCAN1_uc002yuc.2_Missense_Mutation_p.A122T|RCAN1_uc002yud.2_Missense_Mutation_p.A68T|RCAN1_uc002yub.2_Missense_Mutation_p.A148T	NM_004414	NP_004405	P53805	RCAN1_HUMAN	calcipressin 1 isoform a	203					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0						TCAGTCGCTGCGTGCAATTCA	0.483													T	35890534	C	T	35890534	3	4	25	1	0	0	0	0	1	0	0	0	13168	768	27	1	155	1	RCAN1	21	35890534	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1832387	35890534	12239361	1245	23681											
DSCAM	1826	broad.mit.edu	37	chr21	41385022	41385022	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatggccccgggagtcgAgcagtgattcttgggagctg	15	9	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr21:41385022A>G	uc002yyq.1	-	33	6430	c.5978T>C	c.(5977-5979)CTC>CCC	p.L1993P	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1993	Cytoplasmic (Potential).			HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCGGGAGTCGAGCAGTGATTC	0.537													G	41385022	A	G	41385022	3	3	25	1	0	0	0	0	1	0	0	0	4768	304	11	3	64	3	DSCAM	21	41385022	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	5494488	41385022	6744873	1246	23682											
DSCAM	1826	broad.mit.edu	37	chr21	41561090	41561090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatgggcttctcaccatgcGccgtgcagctcatctccttt	8	14	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr21:41561090G>A	uc002yyq.1	-	12	2884	c.2432C>T	c.(2431-2433)GCG>GTG	p.A811V	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	811	Ig-like C2-type 9.|Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTCACCATGCGCCGTGCAGCT	0.512													A	41561090	G	A	41561090	3	1	25	1	0	0	0	0	1	0	0	0	4768	1087	38	1	3694	1	DSCAM	21	41561090	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	176068	41561090	6568805	1247	23683											
ZNF295	49854	broad.mit.edu	37	chr21	43411514	43411514	+	Frame_Shift_Del	DEL	G	G	-													ttgctaggacccgcttctttGggggctgtgctggcctcggg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr21:43411513_43411513TG>T	uc021wjo.1	-	0	2692	c.2692_2692CA>A	c.(2692-2694)aaafs	p.K898fs	ZNF295_uc002yzz.4_Frame_Shift_Del_p.K697fs|ZNF295_uc002zab.4_Frame_Shift_Del_p.K898fs|ZNF295_uc002yzy.4_Frame_Shift_Del_p.K898fs|ZNF295_uc002zaa.4_Frame_Shift_Del_p.K898fs	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	898					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						CCCGCTTCTTTGGGGGCTGTG	0.562													-	43411514	G	-	43411514	7	5	25	1	0	1	0	1	0	0	0	0	17824	1335	47	0	513	0	ZNF295	21	43411514	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	1850424	43411514	4718381	1248	23684											
CRYAA	1409	broad.mit.edu	37	chr21	44589335	44589335	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcccttcctgtcgtcCaccatcagcccctactaccg	6	20	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr21:44589335C>T	uc002zdd.1	+	1	195	c.126C>T	c.(124-126)TCC>TCT	p.S42S		NM_000394	NP_000385	P02489	CRYAA_HUMAN	crystallin, alpha A	42					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			breast(1)|central_nervous_system(1)	2						TCCTGTCGTCCACCATCAGCC	0.632													T	44589335	C	T	44589335	2	4	25	1	0	0	0	0	0	0	0	1	3905	581	21	4		4	CRYAA	21	44589335	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1177821	44589335	3540560	1249	23685											
KRTAP10-2	386679	broad.mit.edu	37	chr21	45971248	45971248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacagcagctgggggtgcCgcaggggagctcacagcagc	18	12	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr21:45971248C>T	uc002zfi.1	-	1	141	c.94G>A	c.(94-96)GGC>AGC	p.G32S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	keratin associated protein 10-2	32	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)	1						CTGGGGGTGCCGCAGGGGAGC	0.692													T	45971248	C	T	45971248	3	4	25	1	0	0	0	0	1	0	0	0	8509	652	23	1	677	1	KRTAP10-2	21	45971248	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1381913	45971248	2158647	1250	23686											
KRTAP12-2	353323	broad.mit.edu	37	chr21	46086433	46086433	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggagggctggcagcacCcagaggactggcaggacgga	18	10	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr21:46086433C>A	uc002zfu.2	-	1	412	c.371G>T	c.(370-372)GGG>GTG	p.G124V	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181684	NP_859012	P59991	KR122_HUMAN	keratin associated protein 12-2	124	20.|23 X 5 AA approximate repeats.					keratin filament					0						CTGGCAGCACCCAGAGGACTG	0.632													A	46086433	C	A	46086433	3	1	25	1	0	0	0	0	1	0	0	0	8519	623	22	5	73	5	KRTAP12-2	21	46086433	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	115185	46086433	2043462	1251	23687											
MCM3AP	8888	broad.mit.edu	37	chr21	47685900	47685900	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccgcggccaggctctccccGatgtacttgttctgggagtt	12	13	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr21:47685900G>A	uc002zir.1	-	11	3006	c.2970C>T	c.(2968-2970)ATC>ATT	p.I990I	MCM3AP_uc002ziq.1_5'UTR	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	990					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					GGCTCTCCCCGATGTACTTGT	0.622													A	47685900	G	A	47685900	2	1	25	1	0	0	0	0	0	0	0	1	9388	1048	37	1		1	MCM3AP	21	47685900	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1599467	47685900	443995	1252	23688											
TRMT2A	27037	broad.mit.edu	37	chr22	20100722	20100722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagggtgggcaccaggtcctCggccctcccgcagtggaact	14	15	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:20100722C>T	uc002zrk.1	-	11	1683	c.1468G>A	c.(1468-1470)GAG>AAG	p.E490K	TRMT2A_uc002zrl.1_Missense_Mutation_p.E490K|TRMT2A_uc002zrm.1_Missense_Mutation_p.E312K|TRMT2A_uc002zrn.1_Missense_Mutation_p.E508K	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	HpaII tiny fragments locus 9C	490					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(1)	1						ACCAGGTCCTCGGCCCTCCCG	0.647													T	20100722	C	T	20100722	3	4	25	1	0	0	0	0	1	0	0	0	16562	893	31	1	421	1	TRMT2A	22	20100722	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08		20100722	31203844	1253	23689											
KLHL22	84861	broad.mit.edu	37	chr22	20800951	20800951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctccagcgtcgcgcctgCgtgggcatacacctgtgtgg	13	16	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:20800951C>T	uc002zsl.1	-	6	1427	c.1318G>A	c.(1318-1320)GCA>ACA	p.A440T	KLHL22_uc011ahr.1_Missense_Mutation_p.A297T	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	440	Kelch 3.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GTCGCGCCTGCGTGGGCATAC	0.592													T	20800951	C	T	20800951	3	4	25	1	0	0	0	0	1	0	0	0	8377	768	27	1	594	1	KLHL22	22	20800951	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	700229	20800951	30503615	1254	23690											
SLC7A4	6545	broad.mit.edu	37	chr22	21384385	21384385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggggaagacttctggaagCgcagcacaatgatactggtg	15	8	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:21384385C>T	uc002zud.2	-	3	1306	c.1238G>A	c.(1237-1239)CGC>CAC	p.R413H	SLC7A4_uc002zue.2_Missense_Mutation_p.R413H	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	413					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CTTCTGGAAGCGCAGCACAAT	0.627													T	21384385	C	T	21384385	3	4	25	1	0	0	0	0	1	0	0	0	14699	768	27	1	681	1	SLC7A4	22	21384385	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	583434	21384385	29920181	1255	23691											
HIC2	23119	broad.mit.edu	37	chr22	21799865	21799865	+	Frame_Shift_Del	DEL	G	G	-													gctggcggggaggcgggtctGgggggctgcagcagcagcac							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:21799864_21799864TG>T	uc002zur.4	+	2	910	c.680_680TG>T	c.(679-681)ctgfs	p.L227fs	HIC2_uc002zus.4_Frame_Shift_Del_p.L227fs	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	227					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GAGGCGGGTCTGGGGGGCTGC	0.662													-	21799865	G	-	21799865	7	5	25	1	0	1	0	1	0	0	0	0	7102	1335	47	0	687	0	HIC2	22	21799865	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	415480	21799865	29504701	1256	23692											
TOP3B	8940	broad.mit.edu	37	chr22	22319678	22319678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagaagagctggccacacGcagcatctccacagtgttca	10	13	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:22319678G>A	uc002zvs.2	-	9	1357	c.922C>T	c.(922-924)CGT>TGT	p.R308C	TOP3B_uc010gtm.1_5'UTR|TOP3B_uc002zvr.2_Missense_Mutation_p.R33C|TOP3B_uc010gtl.2_Missense_Mutation_p.R308C|TOP3B_uc002zvt.3_Missense_Mutation_p.R308C	NM_003935	NP_003926	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	308					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			kidney(1)	1	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CTGGCCACACGCAGCATCTCC	0.567													A	22319678	G	A	22319678	3	1	25	1	0	0	0	0	1	0	0	0	16365	1087	38	1	1706	1	TOP3B	22	22319678	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	519813	22319678	28984888	1257	23693											
GNAZ	2781	broad.mit.edu	37	chr22	23438372	23438372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacgacctggagcgcatcGccgcagctgactatatcccc	10	15	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:23438372G>A	uc002zwu.1	+	2	1027	c.490G>A	c.(490-492)GCC>ACC	p.A164T	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	164						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GGAGCGCATCGCCGCAGCTGA	0.622													A	23438372	G	A	23438372	3	1	25	1	0	0	0	0	1	0	0	0	6514	1087	38	1	492	1	GNAZ	22	23438372	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1118694	23438372	27866194	1258	23694											
BCR	613	broad.mit.edu	37	chr22	23523754	23523754	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcggaccgcatcagctccCtgggcagccaggccatgcag	13	15	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:23523754C>A	uc002zww.2	+	1	1203	c.607C>A	c.(607-609)CTG>ATG	p.L203M	BCR_uc002zwx.2_Missense_Mutation_p.L203M	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	203	Kinase.|Binding to ABL SH2-domain.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						CATCAGCTCCCTGGGCAGCCA	0.657			T	ABL1| FGFR1|JAK2 	CML|ALL|AML								A	23523754	C	A	23523754	3	1	25	1	0	0	0	0	1	0	0	0	1388	680	24	5	609	5	BCR	22	23523754	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	85382	23523754	27780812	1259	23695											
GGT1	2678	broad.mit.edu	37	chr22	25024147	25024147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggcacacagatcaccaCggccactgcactggtatgtg	13	12	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:25024147C>T	uc003aan.1	+	14	1923	c.1436C>T	c.(1435-1437)ACG>ATG	p.T479M	GGT1_uc003aas.1_Missense_Mutation_p.T479M|GGT1_uc003aat.1_Missense_Mutation_p.T479M|GGT1_uc003aau.1_Missense_Mutation_p.T479M|GGT1_uc003aav.1_Missense_Mutation_p.T479M|GGT1_uc003aaw.1_Missense_Mutation_p.T479M|GGT1_uc003aax.1_Missense_Mutation_p.T479M|GGT1_uc003aay.1_Missense_Mutation_p.T135M	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	479	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)	CAGATCACCACGGCCACTGCA	0.652													T	25024147	C	T	25024147	3	4	25	1	0	0	0	0	1	0	0	0	6361	536	19	1	1474	1	GGT1	22	25024147	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1500393	25024147	26280419	1260	23696											
LIF	3976	broad.mit.edu	37	chr22	30639661	30639661	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaaggcctgggccaacacGgcgatgatctgcttatactt	11	10	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:30639661G>A	uc003agz.2	-	3	700	c.588C>T	c.(586-588)GCC>GCT	p.A196A	LIF_uc011aks.1_3'UTR|uc003aha.2_5'Flank	NM_002309	NP_002300	P15018	LIF_HUMAN	leukemia inhibitory factor (cholinergic	196					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding				0			Epithelial(10;0.171)			GGGCCAACACGGCGATGATCT	0.572													A	30639661	G	A	30639661	2	1	25	1	0	0	0	0	0	0	0	1	8779	1103	39	1		1	LIF	22	30639661	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	5615514	30639661	20664905	1261	23697											
OSM	5008	broad.mit.edu	37	chr22	30661062	30661062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctggccaaggagcacgcGgtactctttcgagcagctgc	14	12	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:30661062G>A	uc003ahb.2	-	2	158	c.106C>T	c.(106-108)CGC>TGC	p.R36C		NM_020530	NP_065391	P13725	ONCM_HUMAN	oncostatin M precursor	36					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			skin(1)	1			Epithelial(10;0.206)			AGGAGCACGCGGTACTCTTTC	0.577													A	30661062	G	A	30661062	3	1	25	1	0	0	0	0	1	0	0	0	11291	1116	39	1	660	1	OSM	22	30661062	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	21401	30661062	20643504	1262	23698											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951307	30951307	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtagaggtgggagtccagcAtgttccaggcggtggcgcgc	19	9	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:30951307A>G	uc003aig.1	-	4	1045	c.905T>C	c.(904-906)ATG>ACG	p.M302T	GAL3ST1_uc003aih.1_Missense_Mutation_p.M302T|GAL3ST1_uc003aii.1_Missense_Mutation_p.M302T|GAL3ST1_uc010gvz.1_Missense_Mutation_p.M302T	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	302	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						GGAGTCCAGCATGTTCCAGGC	0.706													G	30951307	A	G	30951307	3	3	25	1	0	0	0	0	1	0	0	0	6197	217	8	3	370	3	GAL3ST1	22	30951307	Missense_Mutation	SNP	A	TCGA-BR-4370-01A-01D-1158-08	290245	30951307	20353259	1263	23699											
SYN3	8224	broad.mit.edu	37	chr22	33402468	33402468	+	Frame_Shift_Del	DEL	A	A	-													atggcactggagagggagctAaaaaggctggatcctggaga							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:33402467_33402467TA>T	uc003amx.3	-	0	343	c.181_181TA>A	c.(181-183)agcfs	p.S61fs	SYN3_uc003amy.3_Frame_Shift_Del_p.S61fs|SYN3_uc003amz.3_Frame_Shift_Del_p.S61fs	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	61	B; linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GAGAGGGAGCTAAAAAGGCTG	0.627													-	33402468	A	-	33402468	7	5	25	1	0	1	0	1	0	0	0	0	15439	359	13	0	1614	0	SYN3	22	33402468	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	2451161	33402468	17902098	1264	23700											
MCM5	4174	broad.mit.edu	37	chr22	35808554	35808554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaggaggagttccgtcGcctggctgccctcccaaatg	15	12	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:35808554G>A	uc003anu.3	+	8	1065	c.971G>A	c.(970-972)CGC>CAC	p.R324H	MCM5_uc010gwr.2_Missense_Mutation_p.R133H|MCM5_uc003anv.3_Missense_Mutation_p.R281H|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_Missense_Mutation_p.R108H	NM_006739	NP_006730	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	324					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)	1						GAGTTCCGTCGCCTGGCTGCC	0.607													A	35808554	G	A	35808554	3	1	25	1	0	0	0	0	1	0	0	0	9390	1087	38	1	997	1	MCM5	22	35808554	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2406086	35808554	15496012	1265	23701											
MYH9	4627	broad.mit.edu	37	chr22	36723530	36723530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaagatggattgatcttctCggtctgaaacaaagaagaca	9	7	3	5			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:36723530C>T	uc003apg.2	-	4	725	c.494G>A	c.(493-495)CGA>CAA	p.R165Q	MYH9_uc003aph.1_Missense_Mutation_p.R29Q|MYH9_uc003api.1_Missense_Mutation_p.R165Q	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	165	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TTGATCTTCTCGGTCTGAAAC	0.502			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				T	36723530	C	T	36723530	3	4	25	1	0	0	0	0	1	0	0	0	10042	884	31	1	5540	1	MYH9	22	36723530	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	914976	36723530	14581036	1266	23702											
FOXRED2	80020	broad.mit.edu	37	chr22	36902310	36902310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgaacactgcgtagtcgcGtccagcgcgctgcaggaagt	13	13	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:36902310G>A	uc003apn.3	-	1	268	c.160C>T	c.(160-162)CGC>TGC	p.R54C	FOXRED2_uc003apo.3_Missense_Mutation_p.R54C|FOXRED2_uc003app.3_Missense_Mutation_p.R54C	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	54					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			lung(1)|kidney(1)	2						GCGTAGTCGCGTCCAGCGCGC	0.711													A	36902310	G	A	36902310	3	1	25	1	0	0	0	0	1	0	0	0	6034	1145	40	1	1926	1	FOXRED2	22	36902310	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	178780	36902310	14402256	1267	23703											
TRIOBP	11078	broad.mit.edu	37	chr22	38130975	38130975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggggggcagagggagcGtgtccatacccgcgtggctc	19	11	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:38130975G>A	uc003atr.2	+	9	4903	c.4632G>A	c.(4630-4632)GCG>GCA	p.A1544A	TRIOBP_uc003atu.2_Silent_p.A1372A	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	1544					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					CAGAGGGAGCGTGTCCATACC	0.677											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	38130975	G	A	38130975	2	1	25	1	0	0	0	0	0	0	0	1	16550	1132	40	1		1	TRIOBP	22	38130975	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1228665	38130975	13173591	1268	23704											
DMC1	11144	broad.mit.edu	37	chr22	38934340	38934340	+	Frame_Shift_Del	DEL	T	T	-													cgtgacaacatctgggccaaTttttgctgccgttcggccaa							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:38934339_38934339AT>A	uc003avz.1	-	10	911	c.736_736AT>T	c.(736-738)ttgfs	p.L246fs	DMC1_uc011anv.1_Frame_Shift_Del_p.L191fs	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	246					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					ATCTGGGCCAATTTTTGCTGC	0.383								Homologous recombination					-	38934340	T	-	38934340	7	5	25	1	0	1	0	1	0	0	0	0	4579	1490	52	0	303	0	DMC1	22	38934340	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	803365	38934340	12370226	1269	23705											
APOBEC3G	60489	broad.mit.edu	37	chr22	39477083	39477083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtacaagggatatggccaCgttcctggccgaggacccga	14	11	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:39477083C>T	uc003awx.2	+	3	659	c.317C>T	c.(316-318)ACG>ATG	p.T106M	APOBEC3G_uc003awy.2_Missense_Mutation_p.T39M	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	106					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2	Melanoma(58;0.04)					GATATGGCCACGTTCCTGGCC	0.562													T	39477083	C	T	39477083	3	4	25	1	0	0	0	0	1	0	0	0	794	536	19	1	327	1	APOBEC3G	22	39477083	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	542743	39477083	11827483	1270	23706											
RPL3	6122	broad.mit.edu	37	chr22	39710758	39710758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccacagagaaggctacaCgagcaggatgccatgcccca	12	13	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:39710758C>T	uc003axi.2	-	6	850	c.782G>A	c.(781-783)CGT>CAT	p.R261H	RPL3_uc003axh.2_Missense_Mutation_p.R212H|RPL3_uc003axj.2_Missense_Mutation_p.R109H|RPL3_uc010gxx.2_Missense_Mutation_p.R209H|RPL3_uc003axg.2_Missense_Mutation_p.R209H|RPL3_uc003axk.1_Missense_Mutation_p.R109H	NM_000967	NP_000958	P39023	RL3_HUMAN	ribosomal protein L3 isoform a	261					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(1)	2	Melanoma(58;0.04)					GAAGGCTACACGAGCAGGATG	0.612													T	39710758	C	T	39710758	3	4	25	1	0	0	0	0	1	0	0	0	13579	536	19	1	449	1	RPL3	22	39710758	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	233675	39710758	11593808	1271	23707											
CSDC2	27254	broad.mit.edu	37	chr22	41969684	41969684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgggcctcagctggccccGtgttcaagggcgtctgtaag	14	14	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:41969684G>A	uc003bak.1	+	3	499	c.202G>A	c.(202-204)GTG>ATG	p.V68M		NM_014460	NP_055275	Q9Y534	CSDC2_HUMAN	RNA-binding protein pippin	68	CSD.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|RNA binding				0						AGCTGGCCCCGTGTTCAAGGG	0.612													A	41969684	G	A	41969684	3	1	25	1	0	0	0	0	1	0	0	0	3928	1145	40	1	208	1	CSDC2	22	41969684	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2258926	41969684	9334882	1272	23708											
TCF20	6942	broad.mit.edu	37	chr22	42608248	42608248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccctgggcctctgctccGcccaggagacattttcaatt	8	16	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:42608248G>A	uc003bcj.1	-	1	3198	c.3064C>T	c.(3064-3066)CGG>TGG	p.R1022W	TCF20_uc003bck.1_Missense_Mutation_p.R1022W|TCF20_uc003bnt.2_Missense_Mutation_p.R1022W	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	1022					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						CCTCTGCTCCGCCCAGGAGAC	0.547													A	42608248	G	A	42608248	3	1	25	1	0	0	0	0	1	0	0	0	15687	1086	38	1	2856	1	TCF20	22	42608248	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	638564	42608248	8696318	1273	23709											
PACSIN2	11252	broad.mit.edu	37	chr22	43272302	43272302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agactcatcgtctgaccagtCggtgggatagctctgggtct	13	10	4	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:43272302C>T	uc010gzg.2	-	10	1411	c.1189G>A	c.(1189-1191)GAC>AAC	p.D397N	PACSIN2_uc003bdg.3_Missense_Mutation_p.D397N|PACSIN2_uc003bde.3_Missense_Mutation_p.D397N|PACSIN2_uc003bdf.3_Missense_Mutation_p.D356N	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in	397					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity				0		Glioma(61;0.222)				TCTGACCAGTCGGTGGGATAG	0.627													T	43272302	C	T	43272302	3	4	25	1	0	0	0	0	1	0	0	0	11375	884	31	1	279	1	PACSIN2	22	43272302	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	664054	43272302	8032264	1274	23710											
SMC1B	27127	broad.mit.edu	37	chr22	45802684	45802684	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattatgcctatcttttccaActctgcaatgtaaacagaac	4	10	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:45802684A>G	uc003bgc.2	-	3	413	c.361T>C	c.(361-363)TTG>CTG	p.L121L	SMC1B_uc003bgd.2_Silent_p.L121L|SMC1B_uc003bge.1_5'UTR	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	121					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATCTTTTCCAACTCTGCAATG	0.299													G	45802684	A	G	45802684	2	3	25	1	0	0	0	0	0	0	0	1	14782	40	2	3		3	SMC1B	22	45802684	Silent	SNP	A	TCGA-BR-4370-01A-01D-1158-08	2530382	45802684	5501882	1275	23711											
ATXN10	25814	broad.mit.edu	37	chr22	46085740	46085740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaatgcttcaggtgtcttCgcaatgcttgcatagagtgt	11	8	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:46085740C>T	uc003bgm.1	+	2	522	c.265C>T	c.(265-267)CGC>TGC	p.R89C	ATXN10_uc011aqt.1_Intron|ATXN10_uc003bgn.1_5'UTR	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	ataxin 10	89					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				ovary(1)|kidney(1)	2		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CAGGTGTCTTCGCAATGCTTG	0.438													T	46085740	C	T	46085740	3	4	25	1	0	0	0	0	1	0	0	0	1210	884	31	1	271	1	ATXN10	22	46085740	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	283056	46085740	5218826	1276	23712											
CELSR1	9620	broad.mit.edu	37	chr22	46792521	46792521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgttctcacagtacggccCgtagtgactgggcccacact	10	14	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:46792521C>T	uc003bhw.1	-	13	5824	c.5824G>A	c.(5824-5826)GGG>AGG	p.G1942R	CELSR1_uc011arc.1_Missense_Mutation_p.G263R	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1942	Extracellular (Potential).|EGF-like 6; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGTACGGCCCGTAGTGACTG	0.622													T	46792521	C	T	46792521	3	4	25	1	0	0	0	0	1	0	0	0	3221	652	23	1	3312	1	CELSR1	22	46792521	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	706781	46792521	4512045	1277	23713											
PANX2	56666	broad.mit.edu	37	chr22	50615987	50615987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtgagctgcaagctcccGtccgtgcaactgcagcgcat	12	15	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:50615987G>A	uc003bjn.3	+	2	846	c.846G>A	c.(844-846)CCG>CCA	p.P282P	PANX2_uc003bjp.3_Silent_p.P148P|PANX2_uc003bjo.3_Silent_p.P282P	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	282	Extracellular (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		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)		GCAAGCTCCCGTCCGTGCAAC	0.662													A	50615987	G	A	50615987	2	1	25	1	0	0	0	0	0	0	0	1	11421	1132	40	1		1	PANX2	22	50615987	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	3823466	50615987	688579	1278	23714											
SELO	83642	broad.mit.edu	37	chr22	50648623	50648623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccaggtgacgcggcgcaCggcgcggatggtggccgagt	18	13	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:50648623C>T	uc011arr.1	+	4	1011	c.953C>T	c.(952-954)ACG>ATG	p.T318M	SELO_uc010hap.2_Missense_Mutation_p.T129M|SELO_uc003bjy.2_Translation_Start_Site|SELO_uc003bjz.2_Translation_Start_Site	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN	selenoprotein O	318											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)		ACGCGGCGCACGGCGCGGATG	0.672											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	50648623	C	T	50648623	3	4	25	1	0	0	0	0	1	0	0	0	14018	536	19	1	967	1	SELO	22	50648623	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	32636	50648623	655943	1279	23715											
SELO	83642	broad.mit.edu	37	chr22	50649342	50649342	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaccatgcatctgaccggTgagtgacccagccgtgccca	12	14	1	4			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:50649342T>C	uc011arr.1	+	5	1409	c.1351_splice	c.e5+2	p.G451_splice	SELO_uc010hap.2_Splice_Site_p.G262_splice|SELO_uc003bjy.2_Splice_Site_p.G131_splice|SELO_uc003bjz.2_Splice_Site_p.G131_splice	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN	selenoprotein O												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)		ATCTGACCGGTGAGTGACCCA	0.612											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	50649342	T	C	50649342	5	2	25	1	0	0	0	0	0	0	1	0	14018	1710	59	3	1371	3	SELO	22	50649342	Splice_Site	SNP	T	TCGA-BR-4370-01A-01D-1158-08	719	50649342	655224	1280	23716											
SBF1	6305	broad.mit.edu	37	chr22	50885774	50885774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaaggccttctcgtccaCagtcttaggggcacccatag	10	12	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:50885774C>T	uc003blh.2	-	40	5755	c.5560G>A	c.(5560-5562)GTG>ATG	p.V1854M	SBF1_uc003ble.2_Missense_Mutation_p.V318M|SBF1_uc003blf.2_Missense_Mutation_p.V330M|SBF1_uc011arx.1_Missense_Mutation_p.V1492M	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1828	PH.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTCGTCCACAGTCTTAGGG	0.647													T	50885774	C	T	50885774	3	4	25	1	0	0	0	0	1	0	0	0	13858	478	17	4	129	4	SBF1	22	50885774	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	236432	50885774	418792	1281	23717											
SBF1	6305	broad.mit.edu	37	chr22	50900780	50900782	+	In_Frame_Del	DEL	CTC	CTC	-													gcctggctgaacaccgtgctCtcctccttctgcaccagctc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:50900779_50900781TCTC>T	uc003blh.3	-	18	2444_2446	c.2249_2251GAGA>A	c.(2248-2253)gagagc>gAgc	p.S751del	SBF1_uc011arx.2_In_Frame_Del_p.S415del|SBF1_uc003bli.2_In_Frame_Del_p.S752del	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	751					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		AACACCGTGCTCTCCTCCTTCTG	0.635													-	50900782	CTC	-	50900780	7	5	25	1	0	1	0	1	0	0	0	0	13858	912	32	0	3523	0	SBF1	22	50900780	In_Frame_Del	DEL	CTC	TCGA-BR-4370-01A-01D-1158-08	15006	50900780	403786	1282	23718											
ZBED1	9189	broad.mit.edu	37	chrX	2406919	2406919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacgctcaggggcgacgcgCgtggccgtcacgcaccagta	15	14	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:2406919C>T	uc004cqg.2	-	2	2043	c.1842G>A	c.(1840-1842)ACG>ACA	p.T614T	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Silent_p.T614T	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	614						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGCGACGCGCGTGGCCGTCA	0.662													T	2406919	C	T	2406919	2	4	25	1	0	0	0	0	0	0	0	1	17514	755	27	1		1	ZBED1	23	2406919	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08		2406919	152863641	1283	23719											
ARSE	415	broad.mit.edu	37	chrX	2873550	2873550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgggtcagcttcacgccgtCctctgcaaggcggtcaatat	11	12	4	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:2873550C>T	uc004crc.3	-	4	464	c.214G>A	c.(214-216)GAC>AAC	p.D72N	ARSE_uc011mhi.1_Missense_Mutation_p.D18N|ARSE_uc011mhh.1_Missense_Mutation_p.D97N	NM_000047	NP_000038	P51690	ARSE_HUMAN	arylsulfatase E precursor	72					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCACGCCGTCCTCTGCAAGG	0.502													T	2873550	C	T	2873550	3	4	25	1	0	0	0	0	1	0	0	0	990	855	30	4	1587	4	ARSE	23	2873550	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	466631	2873550	152397010	1284	23720											
MXRA5	25878	broad.mit.edu	37	chrX	3248157	3248157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccagaagcggcatgttcCgaagcatgctggcaggaaga	13	10	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:3248157C>T	uc004crg.3	-	4	768	c.611G>A	c.(610-612)CGG>CAG	p.R204Q		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	204	LRR 6.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGGCATGTTCCGAAGCATGCT	0.458													T	3248157	C	T	3248157	3	4	25	1	0	0	0	0	1	0	0	0	10003	652	23	1	7891	1	MXRA5	23	3248157	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	374607	3248157	152022403	1285	23721											
MXRA5	25878	broad.mit.edu	37	chrX	3261860	3261860	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggagagggccccccagtgCgcgcgcttgggcatcttgtc	15	14	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:3261860C>T	uc004crg.3	-	2	172	c.15G>A	c.(13-15)GCG>GCA	p.A5A		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	5						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCCCCCAGTGCGCGCGCTTGG	0.627													T	3261860	C	T	3261860	2	4	25	1	0	0	0	0	0	0	0	1	10003	755	27	1		1	MXRA5	23	3261860	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	13703	3261860	152008700	1286	23722											
SHROOM2	357	broad.mit.edu	37	chrX	9864477	9864477	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagggcacggagccctggtcGcgcaccacctcccttgggga	15	15	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:9864477G>T	uc004csu.1	+	4	2619	c.2529G>T	c.(2527-2529)TCG>TCT	p.S843S		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	843					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				AGCCCTGGTCGCGCACCACCT	0.657													T	9864477	G	T	9864477	2	4	25	1	0	0	0	0	0	0	0	1	14294	1074	38	5		5	SHROOM2	23	9864477	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	6602617	9864477	145406083	1287	23723											
CNKSR2	22866	broad.mit.edu	37	chrX	21545078	21545078	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagttctgccctccaggatCtctacattccccctcctcct	4	19	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:21545078C>T	uc004czx.1	+	10	1087	c.1051C>T	c.(1051-1053)CTC>TTC	p.L351F	CNKSR2_uc004czw.2_Missense_Mutation_p.L351F|CNKSR2_uc011mjn.1_Missense_Mutation_p.L302F|CNKSR2_uc011mjo.1_Missense_Mutation_p.L351F|CNKSR2_uc004czy.2_5'UTR	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	351	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						CCTCCAGGATCTCTACATTCC	0.483													T	21545078	C	T	21545078	3	4	25	1	0	0	0	0	1	0	0	0	3607	913	32	4	1089	4	CNKSR2	23	21545078	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	11680601	21545078	133725482	1288	23724											
EIF2S3	1968	broad.mit.edu	37	chrX	24086182	24086182	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaattgtatcactttttgcGgagcataatgatctgcaata	7	6	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:24086182G>A	uc004dbc.2	+	9	990	c.969G>A	c.(967-969)GCG>GCA	p.A323A		NM_001415	NP_001406	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2,	323						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			lung(1)	1						CACTTTTTGCGGAGCATAATG	0.378													A	24086182	G	A	24086182	2	1	25	1	0	0	0	0	0	0	0	1	5011	1103	39	1		1	EIF2S3	23	24086182	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	2541104	24086182	131184378	1289	23725											
MAGEB2	4113	broad.mit.edu	37	chrX	30236810	30236810	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagcagaggaagaagaggCcccctgctgttcctcttctg	12	11	2	4			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:30236810C>A	uc004dbz.2	+	2	216	c.113C>A	c.(112-114)GCC>GAC	p.A38D		NM_002364	NP_002355	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	38							protein binding			ovary(1)	1						GAAGAAGAGGCCCCCTGCTGT	0.602													A	30236810	C	A	30236810	3	1	25	1	0	0	0	0	1	0	0	0	9176	739	26	5	115	5	MAGEB2	23	30236810	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	6150628	30236810	125033750	1290	23726											
TSPAN7	7102	broad.mit.edu	37	chrX	38540530	38540530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagtggcgtttggaatcGcattctcccaggtagcctac	12	11	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:38540530G>A	uc004deg.3	+	6	739	c.670G>A	c.(670-672)GCA>ACA	p.A224T	TSPAN7_uc011mkj.1_Missense_Mutation_p.A250T|TSPAN7_uc011mkk.1_Missense_Mutation_p.A241T|TSPAN7_uc004deh.2_Missense_Mutation_p.A132T	NM_004615	NP_004606	P41732	TSN7_HUMAN	tetraspanin 7	224	Helical; (Potential).				interspecies interaction between organisms	integral to plasma membrane				ovary(1)	1						GTTTGGAATCGCATTCTCCCA	0.498													A	38540530	G	A	38540530	3	1	25	1	0	0	0	0	1	0	0	0	16649	1087	38	1	692	1	TSPAN7	23	38540530	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	8303720	38540530	116730030	1291	23727											
USP9X	8239	broad.mit.edu	37	chrX	41055854	41055855	+	Frame_Shift_Del	DEL	AG	AG	-													tctgtttccagagcacagcaAgagagagagctaaacactca							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:41055853_41055854AAG>A	uc004dfb.3	+	27	4728_4729	c.4095_4096AAG>A	c.(4093-4098)gcaagafs	p.A1365fs	USP9X_uc004dfc.3_Frame_Shift_Del_p.A1365fs	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1365					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGAGCACAGCAAGAGAGAGAGC	0.361													-	41055855	AG	-	41055854	7	5	25	1	0	1	0	1	0	0	0	0	17087	64	3	0	4202	0	USP9X	23	41055854	Frame_Shift_Del	DEL	AG	TCGA-BR-4370-01A-01D-1158-08	2515324	41055854	114214706	1292	23728											
DUSP21	63904	broad.mit.edu	37	chrX	44703614	44703614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttaccgatgctcgtgactCgcgtctctacgacttttttg	9	11	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:44703614C>T	uc004dgd.2	+	1	366	c.236C>T	c.(235-237)TCG>TTG	p.S79L		NM_022076	NP_071359	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	79	Tyrosine-protein phosphatase.|Sufficient for mitochondrial localization (By similarity).					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)	2						GCTCGTGACTCGCGTCTCTAC	0.527													T	44703614	C	T	44703614	3	4	25	1	0	0	0	0	1	0	0	0	4820	893	31	1	238	1	DUSP21	23	44703614	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3647760	44703614	110566946	1293	23729											
RBM10	8241	broad.mit.edu	37	chrX	47045497	47045501	+	Frame_Shift_Del	DEL	AGAGA	AGAGA	-													gggaccgtgcagctgaacgcAgagaaaagtatggcatcccc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:47045496_47045500CAGAGA>C	uc004dhi.3	+	21	2887_2891	c.2658_2662CAGAGA>C	c.(2656-2664)cgcagagaafs	p.R886fs	RBM10_uc004dhf.3_Frame_Shift_Del_p.R821fs|RBM10_uc004dhh.3_Frame_Shift_Del_p.R820fs|RBM10_uc010nhq.3_Frame_Shift_Del_p.R744fs|RBM10_uc004dhg.3_Frame_Shift_Del_p.R743fs	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	821	G-patch.				RNA splicing|mRNA processing	chromatin remodeling complex	RNA binding|nucleotide binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CAGCTGAACGCAGAGAAAAGTATGG	0.561													-	47045501	AGAGA	-	47045497	7	5	25	1	0	1	0	1	0	0	0	0	13111	180	7	0	2546	0	RBM10	23	47045497	Frame_Shift_Del	DEL	AGAGA	TCGA-BR-4370-01A-01D-1158-08	2341883	47045497	108225063	1294	23730											
UBA1	7317	broad.mit.edu	37	chrX	47061595	47061595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgacacctccaacttctcCgactacatccgtggaggcat	8	14	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:47061595C>T	uc004dhj.3	+	9	1003	c.852C>T	c.(850-852)TCC>TCT	p.S284S	UBA1_uc004dhk.3_Silent_p.S284S|INE1_uc004dhl.2_5'Flank	NM_153280	NP_695012	P22314	UBA1_HUMAN	ubiquitin-activating enzyme E1	284	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			ovary(1)	1						CCAACTTCTCCGACTACATCC	0.507													T	47061595	C	T	47061595	2	4	25	1	0	0	0	0	0	0	0	1	16824	639	23	1		1	UBA1	23	47061595	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	16098	47061595	108208965	1295	23731											
ZNF157	7712	broad.mit.edu	37	chrX	47272407	47272407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgtgggaaaaacttccGtgcaaagaaatccctaaatc	10	8	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:47272407G>A	uc004dhr.1	+	4	1004	c.935G>A	c.(934-936)CGT>CAT	p.R312H		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	312	C2H2-type 6.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AAAAACTTCCGTGCAAAGAAA	0.428													A	47272407	G	A	47272407	3	1	25	1	0	0	0	0	1	0	0	0	17734	1145	40	1	949	1	ZNF157	23	47272407	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	210812	47272407	107998153	1296	23732											
KDM5C	8242	broad.mit.edu	37	chrX	53231066	53231066	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaaaagttgacagcctcGgcaaagttgtagccttggtt	12	8	0	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:53231066G>A	uc004drz.2	-	13	2369	c.1836C>T	c.(1834-1836)GCC>GCT	p.A612A	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Silent_p.A545A|KDM5C_uc004dsa.2_Silent_p.A611A	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	612	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						TGACAGCCTCGGCAAAGTTGT	0.547			N|F|S		clear cell renal carcinoma								A	53231066	G	A	53231066	2	1	25	1	0	0	0	0	0	0	0	1	8135	1103	39	1		1	KDM5C	23	53231066	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	5958659	53231066	102039494	1297	23733											
SMC1A	8243	broad.mit.edu	37	chrX	53436052	53436052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcctttcgctgctggcGgctgctctcctggcggtcga	13	15	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:53436052G>A	uc004dsg.2	-	9	1555	c.1486C>T	c.(1486-1488)CGC>TGC	p.R496C	SMC1A_uc011moe.1_Missense_Mutation_p.R474C|SMC1A_uc011mof.1_Missense_Mutation_p.R262C	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	496	Potential.		R -> C (in CDLS2; affects the affinity of SMC hinge dimers for DNA; mutated hinge dimers bind DNA with higher affinity than wild-type proteins).|R -> H (in CDLS2; affects the affinity of SMC hinge dimers for DNA; mutated hinge dimers bind DNA with higher affinity than wild-type proteins).		cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6						CGCTGCTGGCGGCTGCTCTCC	0.512													A	53436052	G	A	53436052	3	1	25	1	0	0	0	0	1	0	0	0	14781	1116	39	1	2283	1	SMC1A	23	53436052	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	204986	53436052	101834508	1298	23734											
FGD1	2245	broad.mit.edu	37	chrX	54496509	54496509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctgtccttctcttcctcCtcctcctcgtcgtcctcctc	3	21	2	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:54496509C>T	uc004dtg.2	-	4	1775	c.1041G>A	c.(1039-1041)GAG>GAA	p.E347E	FGD1_uc011moi.1_Silent_p.E105E	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	347					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						tctcttcctcctcctcctcgt	0.498													T	54496509	C	T	54496509	2	4	25	1	0	0	0	0	0	0	0	1	5832	680	24	4		4	FGD1	23	54496509	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	1060457	54496509	100774051	1299	23735											
ARHGEF9	23229	broad.mit.edu	37	chrX	62893977	62893977	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaatattctctaaacgtcGcttgcgttcgttgatctgct	8	10	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:62893977G>A	uc004dvl.2	-	6	1704	c.865C>T	c.(865-867)CGA>TGA	p.R289*	ARHGEF9_uc004dvj.1_Nonsense_Mutation_p.R178*|ARHGEF9_uc004dvk.1_Nonsense_Mutation_p.R151*|ARHGEF9_uc011mos.1_Nonsense_Mutation_p.R268*|ARHGEF9_uc004dvm.1_Nonsense_Mutation_p.R268*|ARHGEF9_uc011mot.1_Nonsense_Mutation_p.R236*|ARHGEF9_uc004dvn.2_Nonsense_Mutation_p.R296*	NM_015185	NP_056000	O43307	ARHG9_HUMAN	Cdc42 guanine exchange factor 9	289					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8						TCTAAACGTCGCTTGCGTTCG	0.458													A	62893977	G	A	62893977	4	1	25	1	0	0	0	0	0	1	0	0	912	1095	38	1	705	1	ARHGEF9	23	62893977	Nonsense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	8397468	62893977	92376583	1300	23736											
HEPH	9843	broad.mit.edu	37	chrX	65483525	65483525	+	Frame_Shift_Del	DEL	A	A	-													cgtcatcaccaaagagactgAaaaaggtacgtaaaatgatg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:65483524_65483524GA>G	uc011moz.2	+	19	3537	c.3400_3400GA>G	c.(3400-3402)gaafs	p.E1134fs	HEPH_uc004dwn.3_Frame_Shift_Del_p.E1083fs|HEPH_uc004dwo.3_Frame_Shift_Del_p.E813fs|HEPH_uc010nkr.3_Frame_Shift_Del_p.E891fs|HEPH_uc011mpa.2_Frame_Shift_Del_p.E1083fs	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	1080					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CAAAGAGACTGAAAAAGGTAC	0.443													-	65483525	A	-	65483525	7	5	25	1	0	1	0	1	0	0	0	0	7054	246	9	0	3479	0	HEPH	23	65483525	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	2589548	65483525	89787035	1301	23737											
PJA1	64219	broad.mit.edu	37	chrX	68382265	68382265	+	Frame_Shift_Del	DEL	T	T	-													atcatcagtatcaaaaaaaaTttttggtttcacgcagtttg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:68382264_68382264AT>A	uc022byl.1	-	0	818	c.818_818AT>T	c.(817-819)attfs	p.I273fs	PJA1_uc004dxg.3_Intron|PJA1_uc004dxh.3_Frame_Shift_Del_p.I273fs|PJA1_uc004dxi.3_Frame_Shift_Del_p.I218fs|PJA1_uc011mpi.2_5'UTR	NM_001032396	NP_001027568	Q8NG27	PJA1_HUMAN	Homo sapiens praja ring finger 1 (PJA1), transcript variant 2, mRNA.	273							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ATCAAAAAAAATTTTTGGTTT	0.483													-	68382265	T	-	68382265	7	5	25	1	0	1	0	1	0	0	0	0	11961	1493	52	0	1118	0	PJA1	23	68382265	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	2898740	68382265	86888295	1302	23738											
TAF1	6872	broad.mit.edu	37	chrX	70683799	70683799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagagcagcgctctgggcCgagcgtactaagccaggtcc	15	12	1	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:70683799C>T	uc004dzu.3	+	38	5573	c.5522C>T	c.(5521-5523)CCG>CTG	p.P1841L	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.P1862L|TAF1_uc004dzv.3_Missense_Mutation_p.P1049L|TAF1_uc010nle.1_Intron|TAF1_uc010nlf.1_Intron|TAF1_uc004dzx.2_Intron|TAF1_uc004dzy.2_Intron|TAF1_uc004dzw.1_Intron|TAF1_uc010nlg.1_Intron	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1841	Asp/Glu-rich (acidic tail).|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				CGCTCTGGGCCGAGCGTACTA	0.468													T	70683799	C	T	70683799	3	4	25	1	0	0	0	0	1	0	0	0	15510	652	23	1	5735	1	TAF1	23	70683799	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2301534	70683799	84586761	1303	23739											
RGAG4	340526	broad.mit.edu	37	chrX	71349939	71349939	+	Frame_Shift_Del	DEL	G	G	-													tcggcgtggtaaccacttgtGgggccagaagtctgggatga							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:71349938_71349938TG>T	uc010nlh.2	-	0	1453	c.1453_1453CA>A	c.(1453-1455)acafs	p.T485fs	NHSL2_uc011mqa.2_Intron|RGAG4_uc004eaj.2_Frame_Shift_Del_p.T485fs	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	Homo sapiens retrotransposon gag domain containing 4 (RGAG4), mRNA.	485										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TAACCACTTGTGGGGCCAGAA	0.557													-	71349939	G	-	71349939	7	5	25	1	0	1	0	1	0	0	0	0	13275	1335	47	0	261	0	RGAG4	23	71349939	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	666140	71349939	83920621	1304	23740											
RGAG4	340526	broad.mit.edu	37	chrX	71350736	71350736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggatttcatccaggaagcGcgggaagttggcatgcaagg	15	8	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:71350736G>A	uc010nlh.1	-	1	1016	c.655C>T	c.(655-657)CGC>TGC	p.R219C	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	219										ovary(2)|skin(1)	3	Renal(35;0.156)					TCCAGGAAGCGCGGGAAGTTG	0.587													A	71350736	G	A	71350736	3	1	25	1	0	0	0	0	1	0	0	0	13275	1087	38	1	1058	1	RGAG4	23	71350736	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	797	71350736	83919824	1305	23741											
PHKA1	5255	broad.mit.edu	37	chrX	71813030	71813030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccatccagccttcttcggCgttgccattgaccttgacga	8	16	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:71813030C>T	uc004eax.3	-	29	3468	c.3167G>A	c.(3166-3168)CGC>CAC	p.R1056H	PHKA1_uc004eay.3_Missense_Mutation_p.R1043H|PHKA1_uc011mqi.1_Missense_Mutation_p.R984H|PHKA1_uc010nll.2_Missense_Mutation_p.R88H	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	1056	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					CCTTCTTCGGCGTTGCCATTG	0.438													T	71813030	C	T	71813030	3	4	25	1	0	0	0	0	1	0	0	0	11843	768	27	1	520	1	PHKA1	23	71813030	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	462294	71813030	83457530	1306	23742											
BRWD3	254065	broad.mit.edu	37	chrX	79951476	79951476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaagtcaatgacatccgGcatgtcatgatacctataca	8	9	2	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:79951476G>A	uc004edt.2	-	27	3345	c.3082C>T	c.(3082-3084)CCG>TCG	p.P1028S	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.P624S|BRWD3_uc004edp.2_Missense_Mutation_p.P857S|BRWD3_uc004edq.2_Missense_Mutation_p.P624S|BRWD3_uc010nmj.1_Missense_Mutation_p.P624S|BRWD3_uc004edr.2_Missense_Mutation_p.P698S|BRWD3_uc004eds.2_Missense_Mutation_p.P624S|BRWD3_uc004edu.2_Missense_Mutation_p.P698S|BRWD3_uc004edv.2_Missense_Mutation_p.P624S|BRWD3_uc004edw.2_Missense_Mutation_p.P624S|BRWD3_uc004edx.2_Missense_Mutation_p.P624S|BRWD3_uc004edy.2_Missense_Mutation_p.P624S|BRWD3_uc004edz.2_Missense_Mutation_p.P698S|BRWD3_uc004eea.2_Missense_Mutation_p.P698S|BRWD3_uc004eeb.2_Missense_Mutation_p.P624S	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1028										ovary(4)	4						ATGACATCCGGCATGTCATGA	0.299													A	79951476	G	A	79951476	3	1	25	1	0	0	0	0	1	0	0	0	1526	1203	42	2	2386	2	BRWD3	23	79951476	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	8138446	79951476	75319084	1307	23743											
ZNF711	7552	broad.mit.edu	37	chrX	84526788	84526788	+	Frame_Shift_Del	DEL	A	A	-													gggattccgaagaccatcagAaaaaaatcagcatattatga							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:84526787_84526787GA>G	uc004eeq.3	+	9	3263	c.2377_2377GA>G	c.(2377-2379)gaafs	p.E793fs	ZNF711_uc004eep.3_Frame_Shift_Del_p.E747fs|ZNF711_uc004eeo.3_Frame_Shift_Del_p.E747fs|ZNF711_uc011mqy.1_Frame_Shift_Del_p.E346fs	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	747					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AAGACCATCAGAAAAAAATCA	0.363													-	84526788	A	-	84526788	7	5	25	1	0	1	0	1	0	0	0	0	18113	246	9	0	2266	0	ZNF711	23	84526788	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	4575312	84526788	70743772	1308	23744											
GPRASP1	9737	broad.mit.edu	37	chrX	101912464	101912464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaccttgcttaattatcCgtcctcccgagttagaacaa	6	11	0	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:101912464C>T	uc004ejj.3	+	5	4424	c.3623C>T	c.(3622-3624)CCG>CTG	p.P1208L	GPRASP1_uc004eji.3_Missense_Mutation_p.P1208L|GPRASP1_uc010nod.2_Missense_Mutation_p.P1208L	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	1208	OPRD1-binding.					cytoplasm	protein binding			ovary(1)|lung(1)	2						CTTAATTATCCGTCCTCCCGA	0.378													T	101912464	C	T	101912464	3	4	25	1	0	0	0	0	1	0	0	0	6722	652	23	1	3625	1	GPRASP1	23	101912464	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	17385676	101912464	53358096	1309	23745											
PLP1	5354	broad.mit.edu	37	chrX	103031929	103031929	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagtcccaaagacatgggTaagtttcaaaaactttagca	8	8	1	2	rs113104205		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:103031929T>C	uc010nov.2	+	2	284	c.4_splice	c.e2+2	p.G2_splice	RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Splice_Site_p.G2_splice|PLP1_uc004elj.2_Splice_Site_p.G2_splice|PLP1_uc011msf.1_Splice_Site_p.D2_splice	NM_001128834	NP_001122306	P60201	MYPR_HUMAN	proteolipid protein 1 isoform 1						cell death|synaptic transmission	integral to membrane				ovary(1)	1						AAGACATGGGTAAGTTTCAAA	0.468													C	103031929	T	C	103031929	5	2	25	1	0	0	0	0	0	0	1	0	12104	1652	57	3	8	3	PLP1	23	103031929	Splice_Site	SNP	T	TCGA-BR-4370-01A-01D-1158-08	1119465	103031929	52238631	1310	23746											
PRPS1	5631	broad.mit.edu	37	chrX	106888486	106888486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggccaatgaagtggacCgcatggtgcttgtgggagat	16	6	0	3			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:106888486C>T	uc004ene.3	+	5	815	c.610C>T	c.(610-612)CGC>TGC	p.R204C	PRPS1_uc010npg.2_Missense_Mutation_p.R171C|PRPS1_uc011msj.1_5'UTR	NM_002764	NP_002755	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	204					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|large_intestine(1)	4						TGAAGTGGACCGCATGGTGCT	0.507													T	106888486	C	T	106888486	3	4	25	1	0	0	0	0	1	0	0	0	12578	652	23	1	628	1	PRPS1	23	106888486	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	3856557	106888486	48382074	1311	23747											
IRS4	8471	broad.mit.edu	37	chrX	107978366	107978366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagtgggccacaggctcGctgggtgttacgaagcgcct	16	11	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:107978366G>A	uc004eoc.2	-	1	1242	c.1209C>T	c.(1207-1209)AGC>AGT	p.S403S		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	403						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CCACAGGCTCGCTGGGTGTTA	0.622													A	107978366	G	A	107978366	2	1	25	1	0	0	0	0	0	0	0	1	7842	1078	38	1		1	IRS4	23	107978366	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1089880	107978366	47292194	1312	23748											
RGAG1	57529	broad.mit.edu	37	chrX	109697463	109697463	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggttcatcttgcaaatggaGgtaggagaacctctctcaca	10	9	4	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:109697463G>T	uc004eor.1	+	3	3864	c.3618G>T	c.(3616-3618)GAG>GAT	p.E1206D	RGAG1_uc011msr.1_Missense_Mutation_p.E1206D	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1206										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						TGCAAATGGAGGTAGGAGAAC	0.438													T	109697463	G	T	109697463	3	4	25	1	0	0	0	0	1	0	0	0	13274	991	35	5	3620	5	RGAG1	23	109697463	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1719097	109697463	45573097	1313	23749											
AMOT	154796	broad.mit.edu	37	chrX	112054602	112054602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcatatgcctccgagacgCgctggatttctgtctccacc	8	15	3	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:112054602C>T	uc004epr.2	-	3	1412	c.1412G>A	c.(1411-1413)CGC>CAC	p.R471H	AMOT_uc004eps.2_Missense_Mutation_p.R62H|AMOT_uc004ept.1_Missense_Mutation_p.R471H	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	471	Potential.				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						CTCCGAGACGCGCTGGATTTC	0.483													T	112054602	C	T	112054602	3	4	25	1	0	0	0	0	1	0	0	0	582	768	27	1	1878	1	AMOT	23	112054602	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2357139	112054602	43215958	1314	23750											
SLC6A14	11254	broad.mit.edu	37	chrX	115569030	115569030	+	Frame_Shift_Del	DEL	A	A	-													aggaccgtggtaactggtccAaaaaatcggattatcttcta							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:115569029_115569029CA>C	uc004eqi.3	+	1	251	c.120_120CA>C	c.(118-120)tccfs	p.S40fs	SLC6A14_uc011mtm.2_Non-coding_Transcript	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	40					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	GTAACTGGTCCAAAAAATCGG	0.413													-	115569030	A	-	115569030	7	5	25	1	0	1	0	1	0	0	0	0	14677	131	5	0	127	0	SLC6A14	23	115569030	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	3514428	115569030	39701530	1315	23751											
STAG2	10735	broad.mit.edu	37	chrX	123164817	123164817	+	Frame_Shift_Del	DEL	A	A	-													tattttttatgcagacttgtAaaaaaggcaaaaagggccca							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:123164816_123164816TA>T	uc004eua.3	+	4	533	c.129_129TA>T	c.(127-129)tgtfs	p.C43fs	STAG2_uc004etz.4_Frame_Shift_Del_p.C43fs|STAG2_uc004eub.3_Frame_Shift_Del_p.C43fs|STAG2_uc004euc.3_Frame_Shift_Del_p.C43fs|STAG2_uc004eud.3_Frame_Shift_Del_p.C43fs|STAG2_uc004eue.3_Frame_Shift_Del_p.C43fs	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	43					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGCAGACTTGTAAAAAAGGCA	0.418													-	123164817	A	-	123164817	7	5	25	1	0	1	0	1	0	0	0	0	15242	363	13	0	140	0	STAG2	23	123164817	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	7595787	123164817	32105743	1316	23752											
ODZ1	10178	broad.mit.edu	37	chrX	123518248	123518248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattcagatcgtaactataaCgccactgggttttgtcattt	7	9	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:123518248C>T	uc004euj.2	-	29	6576	c.6512G>A	c.(6511-6513)CGT>CAT	p.R2171H	ODZ1_uc011muj.1_Missense_Mutation_p.R2177H|ODZ1_uc010nqy.2_Missense_Mutation_p.R2178H	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	2171	YD 17.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						GTAACTATAACGCCACTGGGT	0.443													T	123518248	C	T	123518248	3	4	25	1	0	0	0	0	1	0	0	0	10834	536	19	1	1677	1	ODZ1	23	123518248	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	353431	123518248	31752312	1317	23753											
ODZ1	10178	broad.mit.edu	37	chrX	123556221	123556221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggttacttgctgaatgcGgtttactttcctctcgtctg	11	9	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:123556221G>A	uc004euj.2	-	23	4415	c.4351C>T	c.(4351-4353)CGC>TGC	p.R1451C	ODZ1_uc011muj.1_Missense_Mutation_p.R1457C|ODZ1_uc010nqy.2_Missense_Mutation_p.R1458C	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1451	NHL 4.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TGCTGAATGCGGTTTACTTTC	0.502													A	123556221	G	A	123556221	3	1	25	1	0	0	0	0	1	0	0	0	10834	1116	39	1	3862	1	ODZ1	23	123556221	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	37973	123556221	31714339	1318	23754											
ARHGAP36	158763	broad.mit.edu	37	chrX	130215725	130215725	+	Frame_Shift_Del	DEL	T	T	-													gctgttgttgtccgccttcaTttttttagtgagtgtcttgg							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:130215724_130215724AT>A	uc004evz.3	+	1	430	c.85_85AT>A	c.(85-87)attfs	p.I29fs	ARHGAP36_uc004ewa.3_Intron|ARHGAP36_uc004ewb.3_Intron|ARHGAP36_uc004ewc.3_5'Flank	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	29					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GTCCGCCTTCATTTTTTTAGT	0.537													-	130215725	T	-	130215725	7	5	25	1	0	1	0	1	0	0	0	0	883	1493	52	0	88	0	ARHGAP36	23	130215725	Frame_Shift_Del	DEL	T	TCGA-BR-4370-01A-01D-1158-08	6659504	130215725	25054835	1319	23755											
DDX26B	203522	broad.mit.edu	37	chrX	134681155	134681156	+	Frame_Shift_Ins	INS	-	-	A													ggtgtagttattaattttgaINSaaaaacaggaccagatccac							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:134681154_134681155G>GA	uc004eyw.4	+	5	1069_1070	c.706_707G>GA	c.(706-708)gaafs	p.E236fs		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	236										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TATTAATTTTGAAAAAACAGGA	0.332													A	134681156	-	A	134681155	7	5	25	1	0	1	1	0	0	0	0	0	4353	246	9	0	729	0	DDX26B	23	134681155	Frame_Shift_Ins	INS	-	TCGA-BR-4370-01A-01D-1158-08	4465430	134681155	20589405	1320	23756											
MAP7D3	79649	broad.mit.edu	37	chrX	135314317	135314317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cataacagccctcaattcgtCgctagtacatttacgcaagg	7	12	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:135314317C>T	uc004ezt.2	-	8	890	c.799G>A	c.(799-801)GAC>AAC	p.D267N	MAP7D3_uc004ezs.2_Missense_Mutation_p.D231N|MAP7D3_uc011mwc.1_Missense_Mutation_p.D249N|MAP7D3_uc010nsa.1_Intron	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	267						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CTCAATTCGTCGCTAGTACAT	0.423													T	135314317	C	T	135314317	3	4	25	1	0	0	0	0	1	0	0	0	9269	884	31	1	1875	1	MAP7D3	23	135314317	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	633162	135314317	19956243	1321	23757											
RBMX	27316	broad.mit.edu	37	chrX	135957469	135957469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggaatgaccataatcacGgtaagtataatctcgtggtg	10	7	2	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:135957469G>A	uc004fae.1	-	7	940	c.730C>T	c.(730-732)CGT>TGT	p.R244C	RBMX_uc004fac.1_5'Flank|RBMX_uc011mwf.1_Silent_p.T135T|RBMX_uc004fad.1_Missense_Mutation_p.R244C|RBMX_uc011mwg.1_Missense_Mutation_p.R205C|RBMX_uc004faf.1_Missense_Mutation_p.R105C|RBMX_uc010nsf.1_Missense_Mutation_p.R205C|RBMX_uc004fag.1_Missense_Mutation_p.R116C	NM_002139	NP_002130	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked isoform 1	244						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					CCATAATCACGGTAAGTATAA	0.393													A	135957469	G	A	135957469	3	1	25	1	0	0	0	0	1	0	0	0	13151	1116	39	1	512	1	RBMX	23	135957469	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	643152	135957469	19313091	1322	23758											
RBMX	27316	broad.mit.edu	37	chrX	135961490	135961490	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactcaccttccactattcGtccatatttgccaaatactg	3	14	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:135961490G>A	uc004fae.1	-	2	307	c.97C>T	c.(97-99)CGA>TGA	p.R33*	RBMX_uc011mwf.1_Nonsense_Mutation_p.R33*|RBMX_uc004fad.1_Nonsense_Mutation_p.R33*|RBMX_uc011mwg.1_Translation_Start_Site|RBMX_uc004faf.1_Translation_Start_Site|RBMX_uc010nsf.1_Intron|RBMX_uc004fag.1_Intron|SNORD61_uc004fah.1_5'Flank	NM_002139	NP_002130	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked isoform 1	33	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					TCCACTATTCGTCCATATTTG	0.393													A	135961490	G	A	135961490	4	1	25	1	0	0	0	0	0	1	0	0	13151	1153	40	1	1165	1	RBMX	23	135961490	Nonsense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	4021	135961490	19309070	1323	23759											
ZIC3	7547	broad.mit.edu	37	chrX	136649750	136649750	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccacgtctgctactgggaGgagtgcccccgggagggcaa	15	12	1	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:136649750G>T	uc004fak.2	+	1	1405	c.900G>T	c.(898-900)GAG>GAT	p.E300D		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	300	Nuclear localization signal.|C2H2-type 2; atypical.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GCTACTGGGAGGAGTGCCCCC	0.617													T	136649750	G	T	136649750	3	4	25	1	0	0	0	0	1	0	0	0	17677	991	35	5	902	5	ZIC3	23	136649750	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	688260	136649750	18620810	1324	23760											
SOX3	6658	broad.mit.edu	37	chrX	139586578	139586578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttatctttcttgagcagCgtcttggtcttgcggcgcgg	12	10	4	1			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:139586578C>T	uc004fbd.1	-	1	648	c.648G>A	c.(646-648)ACG>ACA	p.T216T		NM_005634	NP_005625	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	216					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			pancreas(1)	1	Acute lymphoblastic leukemia(192;7.65e-05)					TCTTGAGCAGCGTCTTGGTCT	0.468													T	139586578	C	T	139586578	2	4	25	1	0	0	0	0	0	0	0	1	14951	755	27	1		1	SOX3	23	139586578	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	2936828	139586578	15683982	1325	23761											
GPR50	9248	broad.mit.edu	37	chrX	150348463	150348463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgccacagcctccagtaCgaacggatcttcagtgtgcg	10	13	3	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:150348463C>T	uc010ntg.1	+	2	543	c.408C>T	c.(406-408)TAC>TAT	p.Y136Y	uc004fes.1_5'Flank|GPR50_uc011myc.1_Silent_p.Y136Y	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	136	Cytoplasmic (Potential).				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTCCAGTACGAACGGATCT	0.542													T	150348463	C	T	150348463	2	4	25	1	0	0	0	0	0	0	0	1	6697	547	19	1		1	GPR50	23	150348463	Silent	SNP	C	TCGA-BR-4370-01A-01D-1158-08	10761885	150348463	4922097	1326	23762											
GABRE	2564	broad.mit.edu	37	chrX	151130987	151130987	+	Frame_Shift_Del	DEL	A	A	-													tgggtcctcttagaattcctAaaaaaggtgtccgggatcca							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:151130986_151130986TA>T	uc004ffi.3	-	3	526	c.472_472TA>A	c.(472-474)aggfs	p.R158fs	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_uc022cgx.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	158					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTAGAATTCCTAAAAAAGGTG	0.488													-	151130987	A	-	151130987	7	5	25	1	0	1	0	1	0	0	0	0	6170	359	13	0	1073	0	GABRE	23	151130987	Frame_Shift_Del	DEL	A	TCGA-BR-4370-01A-01D-1158-08	782524	151130987	4139573	1327	23763											
ABCD1	215	broad.mit.edu	37	chrX	153001646	153001646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagaagccttcactattGcccgcaacctcctgacagcg	8	16	1	2			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:153001646G>A	uc004fif.2	+	3	1561	c.1162G>A	c.(1162-1164)GCC>ACC	p.A388T	ABCD1_uc004fig.2_5'Flank	NM_000033	NP_000024	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member	388					fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCACTATTGCCCGCAACCT	0.602													A	153001646	G	A	153001646	3	1	25	1	0	0	0	0	1	0	0	0	60	1319	46	2	1172	2	ABCD1	23	153001646	Missense_Mutation	SNP	G	TCGA-BR-4370-01A-01D-1158-08	1870659	153001646	2268914	1328	23764											
SSR4	6748	broad.mit.edu	37	chrX	153063827	153063827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccactgaggtgctggctgCggcgatcggccttgtgatct	15	11	1	2	rs142189119		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:153063827C>T	uc004fiw.2	+	6	510	c.461C>T	c.(460-462)GCG>GTG	p.A154V	SSR4_uc004fiv.2_Missense_Mutation_p.A165V	NM_006280	NP_006271	P51571	SSRD_HUMAN	signal sequence receptor, delta precursor	154	Helical; (Potential).				intracellular protein transport	integral to membrane|Sec61 translocon complex	calcium ion binding|protein binding				0	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGCTGGCTGCGGCGATCGGC	0.592													T	153063827	C	T	153063827	3	4	25	1	0	0	0	0	1	0	0	0	15192	768	27	1	483	1	SSR4	23	153063827	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	62181	153063827	2206733	1329	23765											
L1CAM	3897	broad.mit.edu	37	chrX	153130652	153130652	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactccaggtgcaacgcctcGgggtggccaggcactgcagg	15	14	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:153130652G>A	uc004fjb.2	-	21	2871	c.2763C>T	c.(2761-2763)CCC>CCT	p.P921P	L1CAM_uc004fjc.2_Silent_p.P921P|L1CAM_uc010nuo.2_Silent_p.P916P	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	921	Extracellular (Potential).|Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAACGCCTCGGGGTGGCCAG	0.682													A	153130652	G	A	153130652	2	1	25	1	0	0	0	0	0	0	0	1	8588	1103	39	1		1	L1CAM	23	153130652	Silent	SNP	G	TCGA-BR-4370-01A-01D-1158-08	66825	153130652	2139908	1330	23766											
L1CAM	3897	broad.mit.edu	37	chrX	153132296	153132296	+	Frame_Shift_Del	DEL	G	G	-													ctgcacgcggtactgaacctGgggggcgttccagtccatcc							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:153132295_153132295TG>T	uc004fjb.3	-	17	2348	c.2240_2240CA>A	c.(2239-2241)cagfs	p.Q747fs	L1CAM_uc004fjc.3_Frame_Shift_Del_p.Q747fs|L1CAM_uc010nuo.3_Frame_Shift_Del_p.Q742fs	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	747	Fibronectin type-III 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTACTGAACCTGGGGGGCGTT	0.657													-	153132296	G	-	153132296	7	5	25	1	0	1	0	1	0	0	0	0	8588	1357	47	0	1578	0	L1CAM	23	153132296	Frame_Shift_Del	DEL	G	TCGA-BR-4370-01A-01D-1158-08	1644	153132296	2138264	1331	23767											
FLNA	2316	broad.mit.edu	37	chrX	153590824	153590824	+	Frame_Shift_Del	DEL	C	C	-													cataatggtgtagctgccagCcccccggggcgtgtacttga							TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:153590823_153590823GC>G	uc004fkk.2	-	16	2777	c.2528_2528GC>C	c.(2527-2529)gctfs	p.A843fs	FLNA_uc010nuu.1_Frame_Shift_Del_p.A843fs	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	843					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTAGCTGCCAGCCCCCCGGGG	0.597													-	153590824	C	-	153590824	7	5	25	1	0	1	0	1	0	0	0	0	5933	739	26	0	5544	0	FLNA	23	153590824	Frame_Shift_Del	DEL	C	TCGA-BR-4370-01A-01D-1158-08	458528	153590824	1679736	1332	23768											
PLXNA3	55558	broad.mit.edu	37	chrX	153689697	153689697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccatcggctgctcctggCgcggcgtggagtaccgcttg	14	15	0	0			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:153689697C>T	uc004flm.2	+	3	1026	c.853C>T	c.(853-855)CGC>TGC	p.R285C		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	285	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCTCCTGGCGCGGCGTGGA	0.637													T	153689697	C	T	153689697	3	4	25	1	0	0	0	0	1	0	0	0	12121	768	27	1	859	1	PLXNA3	23	153689697	Missense_Mutation	SNP	C	TCGA-BR-4370-01A-01D-1158-08	98873	153689697	1580863	1333	23769											
UBE4B	10277	broad.mit.edu	37	chr1	10179613	10179613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcttctgagcaacatcCgctcacagtgcatatcccat	7	15	2	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr1:10179613C>T	uc001aqs.3	+	9	2094	c.1381C>T	c.(1381-1383)CGC>TGC	p.R461C	UBE4B_uc001aqr.3_Missense_Mutation_p.R332C|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	461					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GAGCAACATCCGCTCACAGTG	0.498													T	10179613	C	T	10179613	3	4	26	1	0	0	0	0	1	0	0	0	16880	652	23	1	1415	1	UBE4B	1	10179613	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08		10179613	239071008	1	23770											
RPS6KA1	6195	broad.mit.edu	37	chr1	26888152	26888152	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggagtatctgcactcacagGgggtgagtctggattcgggg	17	7	3	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr1:26888152G>C	uc001bmr.1	+	17	1751	c.1588G>C	c.(1588-1590)GGG>CGG	p.G530R	RPS6KA1_uc010ofe.1_Missense_Mutation_p.G438R|RPS6KA1_uc010off.1_Missense_Mutation_p.G514R|RPS6KA1_uc001bms.1_Missense_Mutation_p.G539R|RPS6KA1_uc009vsl.1_Missense_Mutation_p.G373R	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	530	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GCACTCACAGGGGGTGAGTCT	0.572													C	26888152	G	C	26888152	3	2	26	1	0	0	0	0	1	0	0	0	13650	1232	43	5	1793	5	RPS6KA1	1	26888152	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	16708539	26888152	222362469	2	23771											
ERMAP	114625	broad.mit.edu	37	chr1	43296183	43296183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatccctctcgtcttcctcCggctgtctgtgcatgtgtca	8	15	5	0	rs142166292	byFrequency	TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr1:43296183C>T	uc001cic.1	+	3	334	c.64C>T	c.(64-66)CGG>TGG	p.R22W	ERMAP_uc010ojw.1_Missense_Mutation_p.R83W|ERMAP_uc001cid.1_Intron|ERMAP_uc001cie.1_Missense_Mutation_p.R22W|ERMAP_uc001cif.1_5'UTR	NM_001017922	NP_001017922	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein	22						integral to membrane|plasma membrane				ovary(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGTCTTCCTCCGGCTGTCTGT	0.557													T	43296183	C	T	43296183	3	4	26	1	0	0	0	0	1	0	0	0	5234	643	23	1	66	1	ERMAP	1	43296183	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	16408031	43296183	205954438	3	23772											
ZNF691	51058	broad.mit.edu	37	chr1	43317331	43317331	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgtgggcggaccttcagCgatatctccaactttggagc	13	10	2	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr1:43317331C>T	uc001cih.2	+	2	834	c.783C>T	c.(781-783)AGC>AGT	p.S261S	ZNF691_uc001cig.2_Silent_p.S234S|ZNF691_uc009vwm.2_Silent_p.S254S	NM_015911	NP_056995	Q5VV52	ZN691_HUMAN	zinc finger protein 691	265	C2H2-type 6.					nucleus	DNA binding|zinc ion binding			ovary(2)	2	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGACCTTCAGCGATATCTCCA	0.577													T	43317331	C	T	43317331	2	4	26	1	0	0	0	0	0	0	0	1	18093	767	27	1		1	ZNF691	1	43317331	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	21148	43317331	205933290	4	23773											
TIE1	7075	broad.mit.edu	37	chr1	43778103	43778103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgctgcgcctgtgggaCgggacacgggggcaggagcg	19	11	0	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr1:43778103C>T	uc001ciu.2	+	12	1837	c.1758C>T	c.(1756-1758)GAC>GAT	p.D586D	TIE1_uc010okd.1_Silent_p.D586D|TIE1_uc010oke.1_Silent_p.D541D|TIE1_uc009vwq.2_Silent_p.D542D|TIE1_uc010okf.1_Silent_p.D231D|TIE1_uc010okg.1_Silent_p.D231D	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	586	Fibronectin type-III 2.|Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCTGTGGGACGGGACACGGG	0.697													T	43778103	C	T	43778103	2	4	26	1	0	0	0	0	0	0	0	1	15890	535	19	1		1	TIE1	1	43778103	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	460772	43778103	205472518	5	23774											
SPATA6	54558	broad.mit.edu	37	chr1	48865100	48865100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttaaatgggccagccgccGcctggtgtcttcagatagct	11	11	2	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr1:48865100G>A	uc001crr.1	-	7	868	c.703C>T	c.(703-705)CGG>TGG	p.R235W	SPATA6_uc001crs.1_Missense_Mutation_p.R235W|SPATA6_uc010omv.1_Missense_Mutation_p.R221W|SPATA6_uc001crt.2_Missense_Mutation_p.R127W	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6 precursor	235					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				ovary(1)	1						GCCAGCCGCCGCCTGGTGTCT	0.408													A	48865100	G	A	48865100	3	1	26	1	0	0	0	0	1	0	0	0	15012	1086	38	1	791	1	SPATA6	1	48865100	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	5086997	48865100	200385521	6	23775											
C1orf141	400757	broad.mit.edu	37	chr1	67558906	67558906	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctttatcaaggtaacccaCaaattgttttgttaggctag	8	7	1	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr1:67558906C>A	uc001ddl.1	-	7	1096	c.985G>T	c.(985-987)GTG>TTG	p.V329L	C1orf141_uc001ddm.1_Missense_Mutation_p.V329L|C1orf141_uc001ddn.1_RNA	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	hypothetical protein LOC400757	329										ovary(1)	1						AGGTAACCCACAAATTGTTTT	0.338													A	67558906	C	A	67558906	3	1	26	1	0	0	0	0	1	0	0	0	2001	478	17	5	221	5	C1orf141	1	67558906	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	18693806	67558906	181691715	7	23776											
LPPR5	163404	broad.mit.edu	37	chr1	99470147	99470147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtatactcgaagtagtaCgccagcatcaccgtccctgc	8	15	1	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr1:99470147C>T	uc001dsb.2	-	1	303	c.81G>A	c.(79-81)GCG>GCA	p.A27A	uc001dsd.1_RNA|LPPR5_uc001dsc.2_Silent_p.A27A	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	phosphatidic acid phosphatase type 2d isoform 1	27	Helical; (Potential).					integral to membrane	hydrolase activity				0						CGAAGTAGTACGCCAGCATCA	0.587													T	99470147	C	T	99470147	2	4	26	1	0	0	0	0	0	0	0	1	8928	523	19	1		1	LPPR5	1	99470147	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	31911241	99470147	149780474	8	23777											
SLC16A4	9122	broad.mit.edu	37	chr1	110925531	110925531	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtgccttcaaactcttcttGaaagaccacaaagaaaattg	7	9	3	3			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr1:110925531G>A	uc001dzo.1	-	3	327	c.145C>T	c.(145-147)CAA>TAA	p.Q49*	SLC16A4_uc009wfs.1_Nonsense_Mutation_p.Q49*|SLC16A4_uc001dzp.1_Nonsense_Mutation_p.Q49*|SLC16A4_uc010ovy.1_Intron|SLC16A4_uc001dzq.1_Intron|SLC16A4_uc010ovz.1_Intron	NM_004696	NP_004687	O15374	MOT5_HUMAN	solute carrier family 16, member 4	49	Extracellular (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			ovary(3)	3		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	AACTCTTCTTGAAAGACCACA	0.423													A	110925531	G	A	110925531	4	1	26	1	0	0	0	0	0	1	0	0	14410	1299	45	4	1346	4	SLC16A4	1	110925531	Nonsense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	11455384	110925531	138325090	9	23778											
ATP1A4	480	broad.mit.edu	37	chr1	160143992	160143992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagaaccaccctgagatcGtgtttgctcggacctcccct	8	16	0	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr1:160143992G>A	uc001fve.3	+	14	2562	c.2083G>A	c.(2083-2085)GTG>ATG	p.V695M	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.V198M	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	695	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ccctgagatcgtgtttgctcg	0.244													A	160143992	G	A	160143992	3	1	26	1	0	0	0	0	1	0	0	0	1131	1145	40	1	2137	1	ATP1A4	1	160143992	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	49218461	160143992	89106629	10	23779											
TNN	63923	broad.mit.edu	37	chr1	175046955	175046955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcccagcgctgctgccaggGagtcactggtgagctcacca	13	14	2	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr1:175046955G>A	uc001gkl.1	+	2	514	c.401G>A	c.(400-402)GGA>GAA	p.G134E	TNN_uc010pmx.1_Missense_Mutation_p.G134E	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	134					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGCTGCCAGGGAGTCACTGGT	0.458													A	175046955	G	A	175046955	3	1	26	1	0	0	0	0	1	0	0	0	16320	1174	41	4	403	4	TNN	1	175046955	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	14902963	175046955	74203666	11	23780											
CFH	3075	broad.mit.edu	37	chr1	196642259	196642259	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggtatgcaggaagggagaAtgggttgctcttaatccatt	13	5	1	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr1:196642259A>C	uc001gtj.3	+	2	450	c.210A>C	c.(208-210)GAA>GAC	p.E70D	CFH_uc001gti.3_Missense_Mutation_p.E70D|CFH_uc009wyw.2_Missense_Mutation_p.E70D|CFH_uc009wyx.2_Missense_Mutation_p.E70D	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	70	Sushi 1.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						GGAAGGGAGAATGGGTTGCTC	0.353													C	196642259	A	C	196642259	3	2	26	1	0	0	0	0	1	0	0	0	3283	98	4	5	216	5	CFH	1	196642259	Missense_Mutation	SNP	A	TCGA-BR-4371-01A-01D-1158-08	21595304	196642259	52608362	12	23781											
LHX9	56956	broad.mit.edu	37	chr1	197890498	197890498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctcggagatggtcatgCgcgcccgagactctgtctac	12	15	3	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr1:197890498C>T	uc001guk.1	+	3	879	c.442C>T	c.(442-444)CGC>TGC	p.R148C	LHX9_uc001gui.1_Missense_Mutation_p.R139C|LHX9_uc001guj.1_Missense_Mutation_p.R154C	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	148	LIM zinc-binding 2.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GATGGTCATGCGCGCCCGAGA	0.572													T	197890498	C	T	197890498	3	4	26	1	0	0	0	0	1	0	0	0	8777	768	27	1	484	1	LHX9	1	197890498	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	1248239	197890498	51360123	13	23782											
HHAT	55733	broad.mit.edu	37	chr1	210761322	210761322	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgatgacatttgcatttgTgagctactggcatggcggct	14	8	0	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr1:210761322T>C	uc009xcx.2	+	10	1290	c.1124T>C	c.(1123-1125)GTG>GCG	p.V375A	HHAT_uc010psq.1_Missense_Mutation_p.V238A|HHAT_uc001hhz.3_Missense_Mutation_p.V375A|HHAT_uc010psr.1_Missense_Mutation_p.V376A|HHAT_uc010pss.1_Missense_Mutation_p.V330A|HHAT_uc009xcy.2_Missense_Mutation_p.V310A|HHAT_uc010pst.1_Missense_Mutation_p.V312A|HHAT_uc010psu.1_Missense_Mutation_p.V310A|HHAT_uc001hia.3_Missense_Mutation_p.V65A	NM_001122834	NP_001116306	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	375	Helical; (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TTTGCATTTGTGAGCTACTGG	0.572													C	210761322	T	C	210761322	3	2	26	1	0	0	0	0	1	0	0	0	7089	1696	59	3	1256	3	HHAT	1	210761322	Missense_Mutation	SNP	T	TCGA-BR-4371-01A-01D-1158-08	12870824	210761322	38489299	14	23783											
TGFB2	7042	broad.mit.edu	37	chr1	218614600	218614600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctgcttctccttgctgcGtgtcccaagatttagaacct	7	13	2	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr1:218614600G>A	uc001hlm.2	+	7	1794	c.1141G>A	c.(1141-1143)GTG>ATG	p.V381M	TGFB2_uc001hln.2_Missense_Mutation_p.V409M|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	NM_003238	NP_003229	P61812	TGFB2_HUMAN	transforming growth factor, beta 2 isoform 2	381					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding				0				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		TCCTTGCTGCGTGTCCCAAGA	0.413													A	218614600	G	A	218614600	3	1	26	1	0	0	0	0	1	0	0	0	15815	1145	40	1	1255	1	TGFB2	1	218614600	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	7853278	218614600	30636021	15	23784											
ACTN2	88	broad.mit.edu	37	chr1	236894596	236894596	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagcacctggatattcctAaaatgttggatgctgaaggt	11	6	0	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr1:236894596A>G	uc001hyf.2	+	7	883	c.679A>G	c.(679-681)AAA>GAA	p.K227E	ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Missense_Mutation_p.K227E|ACTN2_uc010pxu.1_Missense_Mutation_p.K12E	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	227	CH 2.|Actin-binding.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GGATATTCCTAAAATGTTGGA	0.378													G	236894596	A	G	236894596	3	3	26	1	0	0	0	0	1	0	0	0	205	363	13	3	705	3	ACTN2	1	236894596	Missense_Mutation	SNP	A	TCGA-BR-4371-01A-01D-1158-08	18279996	236894596	12356025	16	23785											
POMC	5443	broad.mit.edu	37	chr2	25387531	25387531	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcaggttgctttccgtggtGaggtcctgacactggctgct	14	10	0	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr2:25387531G>A	uc002rfy.1	-	3	374	c.111C>T	c.(109-111)CTC>CTT	p.L37L	POMC_uc002rfz.1_Silent_p.L37L|POMC_uc002rga.1_Silent_p.L37L	NM_001035256	NP_001030333	P01189	COLI_HUMAN	proopiomelanocortin preproprotein	37					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	TTTCCGTGGTGAGGTCCTGAC	0.597													A	25387531	G	A	25387531	2	1	26	1	0	0	0	0	0	0	0	1	12242	1277	45	4		4	POMC	2	25387531	Silent	SNP	G	TCGA-BR-4371-01A-01D-1158-08		25387531	217811842	17	23786											
NRXN1	9378	broad.mit.edu	37	chr2	50850746	50850746	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacgtggcaatatattcTtcttttcctagaggaaaaca	7	7	2	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr2:50850746T>C	uc010fbq.2	-	6	2416	c.939A>G	c.(937-939)GAA>GAG	p.E313E	NRXN1_uc002rxb.3_5'UTR|NRXN1_uc002rxe.3_Silent_p.E280E|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAATATATTCTTCTTTTCCTA	0.353													C	50850746	T	C	50850746	2	2	26	1	0	0	0	0	0	0	0	1	10665	1606	56	3		3	NRXN1	2	50850746	Silent	SNP	T	TCGA-BR-4371-01A-01D-1158-08	25463215	50850746	192348627	18	23787											
CCDC142	84865	broad.mit.edu	37	chr2	74701728	74701728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acggcaggtgccaacggggtCgctggtgttgcctgagggca	18	10	0	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr2:74701728C>T	uc002slr.2	-	9	2591	c.2198G>A	c.(2197-2199)CGA>CAA	p.R733Q	MRPL53_uc002sln.2_5'Flank|CCDC142_uc002slo.2_Intron|CCDC142_uc002slq.2_Missense_Mutation_p.R726Q|CCDC142_uc002slp.2_3'UTR	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	733										central_nervous_system(1)	1						CCAACGGGGTCGCTGGTGTTG	0.592													T	74701728	C	T	74701728	3	4	26	1	0	0	0	0	1	0	0	0	2776	884	31	1	58	1	CCDC142	2	74701728	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	23850982	74701728	168497645	19	23788											
GGCX	2677	broad.mit.edu	37	chr2	85779051	85779051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggttgcacccaggatgtgCgctgaaagggtgaccaagcg	16	9	0	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr2:85779051C>T	uc002sps.2	-	11	1599	c.1493G>A	c.(1492-1494)CGC>CAC	p.R498H	GGCX_uc010yss.1_Missense_Mutation_p.R314H|GGCX_uc010yst.1_Missense_Mutation_p.R441H	NM_000821	NP_000812	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase isoform 1	498	Lumenal (Potential).				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			ovary(1)	1					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	CCAGGATGTGCGCTGAAAGGG	0.532											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	85779051	C	T	85779051	3	4	26	1	0	0	0	0	1	0	0	0	6356	768	27	1	803	1	GGCX	2	85779051	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	11077323	85779051	157420322	20	23789											
RNF103	7844	broad.mit.edu	37	chr2	86849918	86849918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctgggtggcaaagatgCcagtttcataccacacaatg	10	11	1	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr2:86849918C>T	uc002srn.2	-	1	1061	c.92G>A	c.(91-93)GGC>GAC	p.G31D	VPS24_uc010ytl.1_Intron|RNF103_uc002srp.2_Missense_Mutation_p.G31D	NM_005667	NP_005658	O00237	RN103_HUMAN	ring finger protein 103	31					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)	1						GGCAAAGATGCCAGTTTCATA	0.542													T	86849918	C	T	86849918	3	4	26	1	0	0	0	0	1	0	0	0	13423	739	26	2	1981	2	RNF103	2	86849918	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	1070867	86849918	156349455	21	23790											
AFF3	3899	broad.mit.edu	37	chr2	100170900	100170900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatgctgacgatggtcgaCggggacagggcgctggcgtt	20	8	0	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr2:100170900C>T	uc002tag.2	-	23	3668	c.3432G>A	c.(3430-3432)CCG>CCA	p.P1144P	AFF3_uc002taf.2_Silent_p.P1169P	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	1144					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						CGATGGTCGACGGGGACAGGG	0.647													T	100170900	C	T	100170900	2	4	26	1	0	0	0	0	0	0	0	1	358	523	19	1		1	AFF3	2	100170900	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	13320982	100170900	143028473	22	23791											
SCN2A	6326	broad.mit.edu	37	chr2	166245404	166245404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatcgatgacatgttcaaCtttgagacctttggcaacag	11	8	1	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr2:166245404C>T	uc002udc.2	+	27	5378	c.5088C>T	c.(5086-5088)AAC>AAT	p.N1696N	SCN2A_uc002udd.2_Silent_p.N1696N|SCN2A_uc002ude.2_Silent_p.N1696N	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1696	IV.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	ACATGTTCAACTTTGAGACCT	0.463													T	166245404	C	T	166245404	2	4	26	1	0	0	0	0	0	0	0	1	13916	564	20	4		4	SCN2A	2	166245404	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	66074504	166245404	76953969	23	23792											
XIRP2	129446	broad.mit.edu	37	chr2	168102549	168102549	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagatagaaattattggCaagagcattaaagaaacctt	8	4	0	4			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr2:168102549C>A	uc002udx.2	+	8	4665	c.4647C>A	c.(4645-4647)GGC>GGA	p.G1549G	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.G1374G|XIRP2_uc010fpq.2_Silent_p.G1327G|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1374					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AAATTATTGGCAAGAGCATTA	0.368													A	168102549	C	A	168102549	2	1	26	1	0	0	0	0	0	0	0	1	17427	697	25	5		5	XIRP2	2	168102549	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	1857145	168102549	75096824	24	23793											
ABCB11	8647	broad.mit.edu	37	chr2	169792824	169792824	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtggctcctgataaagccaaGaaggggaagaagcacaagat	13	7	0	4			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr2:169792824G>A	uc002ueo.1	-	22	2856	c.2730C>T	c.(2728-2730)TTC>TTT	p.F910F	ABCB11_uc010zda.1_Silent_p.F352F|ABCB11_uc010zdb.1_Silent_p.F386F	NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	910	ABC transmembrane type-1 2.|Helical; (Potential).				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ATAAAGCCAAGAAGGGGAAGA	0.498													A	169792824	G	A	169792824	2	1	26	1	0	0	0	0	0	0	0	1	42	933	33	4		4	ABCB11	2	169792824	Silent	SNP	G	TCGA-BR-4371-01A-01D-1158-08	1690275	169792824	73406549	25	23794											
LRP2	4036	broad.mit.edu	37	chr2	170030521	170030521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcggccattagcacacCgaaactggcccggccggcag	13	15	0	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr2:170030521C>T	uc002ues.2	-	56	11135	c.10922G>A	c.(10921-10923)CGG>CAG	p.R3641Q		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3641	LDL-receptor class A 29.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATTAGCACACCGAAACTGGCC	0.537													T	170030521	C	T	170030521	3	4	26	1	0	0	0	0	1	0	0	0	8956	652	23	1	3141	1	LRP2	2	170030521	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	237697	170030521	73168852	26	23795											
TLK1	9874	broad.mit.edu	37	chr2	171850340	171850340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaggggatgctgtcagccCagccatgtgtaggtttcctg	14	9	1	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr2:171850340C>T	uc002ugn.2	-	21	2723	c.2251G>A	c.(2251-2253)GGG>AGG	p.G751R	TLK1_uc002ugo.2_Missense_Mutation_p.G772R|TLK1_uc002ugp.2_Missense_Mutation_p.G703R|TLK1_uc010zdn.1_Missense_Mutation_p.G655R	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1 isoform 1	751					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						GCTGTCAGCCCAGCCATGTGT	0.443													T	171850340	C	T	171850340	3	4	26	1	0	0	0	0	1	0	0	0	15940	594	21	4	53	4	TLK1	2	171850340	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	1819819	171850340	71349033	27	23796											
TTN	7273	broad.mit.edu	37	chr2	179471823	179471823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgttcttggcaataacacGgaacttatattcttgtccct	6	10	2	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr2:179471823G>A	uc010zfg.1	-	227	46026	c.45802C>T	c.(45802-45804)CGT>TGT	p.R15268C	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R8963C|TTN_uc010zfi.1_Missense_Mutation_p.R8896C|TTN_uc010zfj.1_Missense_Mutation_p.R8771C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16195							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAATAACACGGAACTTATAT	0.413													A	179471823	G	A	179471823	3	1	26	1	0	0	0	0	1	0	0	0	16732	1116	39	1	54527	1	TTN	2	179471823	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	7621483	179471823	63727550	28	23797											
COL5A2	1290	broad.mit.edu	37	chr2	189899824	189899824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcttttgataaaaggcGcaaaaaagtcatctgagtaa	9	6	3	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr2:189899824G>A	uc002uqk.2	-	53	4446	c.4171C>T	c.(4171-4173)CGC>TGC	p.R1391C	COL5A2_uc010frx.2_Missense_Mutation_p.R967C	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1391	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GATAAAAGGCGCAAAAAAGTC	0.398													A	189899824	G	A	189899824	3	1	26	1	0	0	0	0	1	0	0	0	3697	1087	38	1	336	1	COL5A2	2	189899824	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	10428001	189899824	53299549	29	23798											
CRYGC	1420	broad.mit.edu	37	chr2	208992950	208992950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacaaatccaccactctccGcaaagagcctgccttagcat	5	15	1	1	rs28931604		TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr2:208992950G>A	uc002vco.3	-	3	540	c.502C>T	c.(502-504)CGG>TGG	p.R168W		NM_020989	NP_066269	P07315	CRGC_HUMAN	crystallin, gamma C	168	Beta/gamma crystallin 'Greek key' 4.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens				0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		ACCACTCTCCGCAAAGAGCCT	0.507													A	208992950	G	A	208992950	3	1	26	1	0	0	0	0	1	0	0	0	3916	1086	38	1	26	1	CRYGC	2	208992950	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	19093126	208992950	34206423	30	23799											
EPHA4	2043	broad.mit.edu	37	chr2	222428898	222428898	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcgttgtctgattcatagtAgtacaggttaaacgtctcct	9	8	3	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr2:222428898A>G	uc002vmq.2	-	3	418	c.376T>C	c.(376-378)TAC>CAC	p.Y126H	EPHA4_uc002vmr.2_Missense_Mutation_p.Y126H|EPHA4_uc010zlm.1_Missense_Mutation_p.Y67H|EPHA4_uc010zln.1_Missense_Mutation_p.Y126H	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	126	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GATTCATAGTAGTACAGGTTA	0.458													G	222428898	A	G	222428898	3	3	26	1	0	0	0	0	1	0	0	0	5169	420	15	3	2644	3	EPHA4	2	222428898	Missense_Mutation	SNP	A	TCGA-BR-4371-01A-01D-1158-08	13435948	222428898	20770475	31	23800											
NME6	10201	broad.mit.edu	37	chr3	48339990	48339990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctggagagcctgagggcttCgcaagattgaggccatctca	14	10	1	4			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr3:48339990C>T	uc003csp.3	-	2	68	c.17G>A	c.(16-18)CGA>CAA	p.R6Q	NME6_uc003cso.2_Missense_Mutation_p.R14Q|NME6_uc011bbh.1_Missense_Mutation_p.R6Q|NME6_uc010hju.2_Intron|NME6_uc011bbi.1_Missense_Mutation_p.R6Q	NM_005793	NP_005784	O75414	NDK6_HUMAN	nucleoside diphosphate kinase type 6	6					anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity				0				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		CTGAGGGCTTCGCAAGATTGA	0.547													T	48339990	C	T	48339990	3	4	26	1	0	0	0	0	1	0	0	0	10495	884	31	1	563	1	NME6	3	48339990	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08		48339990	149682440	32	23801											
COL7A1	1294	broad.mit.edu	37	chr3	48618351	48618351	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcttttccaggcaaaccCgggtcaccctggtgatagag	11	13	1	2	rs111360822	byFrequency	TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr3:48618351C>T	uc003ctz.2	-	53	4945	c.4944G>A	c.(4942-4944)CCG>CCA	p.P1648P	MIR711_hsa-mir-711|MI0012488_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1648	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGGCAAACCCGGGTCACCCT	0.562													T	48618351	C	T	48618351	2	4	26	1	0	0	0	0	0	0	0	1	3704	639	23	1		1	COL7A1	3	48618351	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	278361	48618351	149404079	33	23802											
PRICKLE2	166336	broad.mit.edu	37	chr3	64132808	64132808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcctgtcatggccagtgacGagctccttttggggttgctg	14	10	1	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr3:64132808G>A	uc003dmf.2	-	7	1944	c.1358C>T	c.(1357-1359)TCG>TTG	p.S453L		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	453						cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGCCAGTGACGAGCTCCTTTT	0.562													A	64132808	G	A	64132808	3	1	26	1	0	0	0	0	1	0	0	0	12487	1059	37	1	1184	1	PRICKLE2	3	64132808	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	15514457	64132808	133889622	34	23803											
SEC61A1	29927	broad.mit.edu	37	chr3	127779501	127779501	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactactgtcaacactggcCgaggtaagggccctgtgctc	11	14	1	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr3:127779501C>T	uc003ekb.2	+	7	797	c.613C>T	c.(613-615)CGA>TGA	p.R205*	SEC61A1_uc003ekc.2_Nonsense_Mutation_p.R152*|SEC61A1_uc003ekd.2_Nonsense_Mutation_p.R85*	NM_013336	NP_037468	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit	205	Lumenal (Potential).				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			ovary(1)	1						CAACACTGGCCGAGGTAAGGG	0.483													T	127779501	C	T	127779501	4	4	26	1	0	0	0	0	0	1	0	0	14000	644	23	1	639	1	SEC61A1	3	127779501	Nonsense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	63646693	127779501	70242929	35	23804											
ZIC1	7545	broad.mit.edu	37	chr3	147128283	147128283	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgcatcggccgggggcttCgggggcccacacggccacac	16	16	0	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr3:147128283C>T	uc003ewe.2	+	1	1103	c.384C>T	c.(382-384)TTC>TTT	p.F128F		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	128					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CCGGGGGCTTCGGGGGCCCAC	0.716													T	147128283	C	T	147128283	2	4	26	1	0	0	0	0	0	0	0	1	17675	883	31	1		1	ZIC1	3	147128283	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	19348782	147128283	50894147	36	23805											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936091	G	A	178936091	3	1	26	1	0	0	0	0	1	0	0	0	11913	1291	45	4	1667	4	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	31807808	178936091	19086339	37	23806											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952085	A	G	178952085	3	3	26	1	0	0	0	0	1	0	0	0	11913	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-BR-4371-01A-01D-1158-08	15994	178952085	19070345	38	23807											
DRD5	1816	broad.mit.edu	37	chr4	9783809	9783809	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgctgaccctactcatcatCtggaccctgctgggcaacgt	9	15	3	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr4:9783809C>G	uc003gmb.3	+	1	552	c.156C>G	c.(154-156)ATC>ATG	p.I52M		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	52	Helical; Name=1; (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TACTCATCATCTGGACCCTGC	0.687													G	9783809	C	G	9783809	3	3	26	1	0	0	0	0	1	0	0	0	4760	903	32	5	158	5	DRD5	4	9783809	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08		9783809	181370467	39	23808											
POLR2B	5431	broad.mit.edu	37	chr4	57877199	57877199	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgggttggaatacataAagatcccgaacaacttatga	9	8	0	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr4:57877199A>T	uc003hcl.1	+	13	1776	c.1733A>T	c.(1732-1734)AAA>ATA	p.K578I	POLR2B_uc011cae.1_Missense_Mutation_p.K571I|POLR2B_uc011caf.1_Missense_Mutation_p.K503I|POLR2B_uc003hcm.1_Missense_Mutation_p.K71I	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	578					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)					GGAATACATAAAGATCCCGAA	0.368													T	57877199	A	T	57877199	3	4	26	1	0	0	0	0	1	0	0	0	12215	14	1	5	1783	5	POLR2B	4	57877199	Missense_Mutation	SNP	A	TCGA-BR-4371-01A-01D-1158-08	48093390	57877199	133277077	40	23809											
PITX2	5308	broad.mit.edu	37	chr4	111539829	111539829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttctccatttggcccgacGattcttgaaccaaacctggg	8	13	2	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr4:111539829G>A	uc003iad.2	-	5	988	c.406C>T	c.(406-408)CGT>TGT	p.R136C	PITX2_uc003iac.2_Missense_Mutation_p.R143C|PITX2_uc003iae.2_Missense_Mutation_p.R90C|PITX2_uc010iml.2_Missense_Mutation_p.R7C|PITX2_uc003iaf.2_Missense_Mutation_p.R136C	NM_153426	NP_700475	Q99697	PITX2_HUMAN	paired-like homeodomain transcription factor 2	136	Homeobox.		R -> C (in RIEG1).		determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TTGGCCCGACGATTCTTGAAC	0.582													A	111539829	G	A	111539829	3	1	26	1	0	0	0	0	1	0	0	0	11955	1058	37	1	551	1	PITX2	4	111539829	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	53662630	111539829	79614447	41	23810											
PCDH10	57575	broad.mit.edu	37	chr4	134072207	134072207	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggagcttttcggactctcGccgcgcactggcagactgga	14	13	1	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr4:134072207G>A	uc003iha.2	+	1	1738	c.912G>A	c.(910-912)TCG>TCA	p.S304S	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.S304S	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	304	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TCGGACTCTCGCCGCGCACTG	0.637													A	134072207	G	A	134072207	2	1	26	1	0	0	0	0	0	0	0	1	11507	1074	38	1		1	PCDH10	4	134072207	Silent	SNP	G	TCGA-BR-4371-01A-01D-1158-08	22532378	134072207	57082069	42	23811											
PCDH10	57575	broad.mit.edu	37	chr4	134072448	134072448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttttcagcgtgactgacCgcgactcagaggagaatggg	13	11	2	4			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr4:134072448C>T	uc003iha.2	+	1	1979	c.1153C>T	c.(1153-1155)CGC>TGC	p.R385C	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R385C	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	385	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CGTGACTGACCGCGACTCAGA	0.577													T	134072448	C	T	134072448	3	4	26	1	0	0	0	0	1	0	0	0	11507	652	23	1	1155	1	PCDH10	4	134072448	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	241	134072448	57081828	43	23812											
PCDH18	54510	broad.mit.edu	37	chr4	138442509	138442509	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggagttggaccgatccacctCactgcattcagaataggtgt	11	10	2	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr4:138442509C>A	uc003ihe.3	-	4	3469	c.3082G>T	c.(3082-3084)GAG>TAG	p.E1028*	PCDH18_uc003ihf.3_Nonsense_Mutation_p.E1020*|PCDH18_uc011cgz.1_Nonsense_Mutation_p.E239*|PCDH18_uc003ihg.3_Nonsense_Mutation_p.E807*|PCDH18_uc011cha.1_Nonsense_Mutation_p.E208*	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	1028	Interaction with DAB1 (By similarity).|Cytoplasmic (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					CGATCCACCTCACTGCATTCA	0.582													A	138442509	C	A	138442509	4	1	26	1	0	0	0	0	0	1	0	0	11513	835	29	5	329	5	PCDH18	4	138442509	Nonsense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	4370061	138442509	52711767	44	23813											
RNF150	57484	broad.mit.edu	37	chr4	141888924	141888924	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatttctgcaagttccgggtTccgatggtgatgtacattgt	11	7	1	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr4:141888924T>C	uc003iio.1	-	2	1242	c.588A>G	c.(586-588)GGA>GGG	p.G196G	RNF150_uc010iok.1_Silent_p.G196G|RNF150_uc003iip.1_Silent_p.G196G	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	ring finger protein 150 precursor	196	Extracellular (Potential).					integral to membrane	zinc ion binding			ovary(1)	1	all_hematologic(180;0.162)					AGTTCCGGGTTCCGATGGTGA	0.468													C	141888924	T	C	141888924	2	2	26	1	0	0	0	0	0	0	0	1	13451	1770	62	3		3	RNF150	4	141888924	Silent	SNP	T	TCGA-BR-4371-01A-01D-1158-08	3446415	141888924	49265352	45	23814											
FBXW7	55294	broad.mit.edu	37	chr4	153247167	153247167	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagatcttacctgtaatgaAtagactctattagtatgccc	7	8	2	3			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr4:153247167A>C	uc003ims.2	-	10	1784	c.1635T>G	c.(1633-1635)TAT>TAG	p.Y545*	FBXW7_uc011cii.1_Nonsense_Mutation_p.Y545*|FBXW7_uc003imt.2_Nonsense_Mutation_p.Y545*|FBXW7_uc011cih.1_Nonsense_Mutation_p.Y369*|FBXW7_uc003imq.2_Nonsense_Mutation_p.Y465*|FBXW7_uc003imr.2_Nonsense_Mutation_p.Y427*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	545	WD 5.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.Y545C(1)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CCTGTAATGAATAGACTCTAT	0.403			Mis|N|D|F		colorectal|endometrial|T-ALL								C	153247167	A	C	153247167	4	2	26	1	0	0	0	0	0	1	0	0	5769	108	4	5	500	5	FBXW7	4	153247167	Nonsense_Mutation	SNP	A	TCGA-BR-4371-01A-01D-1158-08	11358243	153247167	37907109	46	23815											
NPY2R	4887	broad.mit.edu	37	chr4	156135406	156135406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaacactctgtgtctaccGttcactcttacctatacctt	5	13	4	1	rs148709959	byFrequency	TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr4:156135406G>A	uc003ioq.2	+	2	810	c.315G>A	c.(313-315)CCG>CCA	p.P105P	NPY2R_uc003ior.2_Silent_p.P105P	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	105	Helical; Name=2; (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			lung(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0854)				TGTGTCTACCGTTCACTCTTA	0.493													A	156135406	G	A	156135406	2	1	26	1	0	0	0	0	0	0	0	1	10609	1132	40	1		1	NPY2R	4	156135406	Silent	SNP	G	TCGA-BR-4371-01A-01D-1158-08	2888239	156135406	35018870	47	23816											
TRIML2	205860	broad.mit.edu	37	chr4	189026019	189026019	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgccattctttcttgctcaTcagtcaatatgcttttagct	5	11	5	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr4:189026019T>C	uc003izl.2	-	2	143	c.107A>G	c.(106-108)GAT>GGT	p.D36G	TRIML2_uc011cle.1_Missense_Mutation_p.D86G|TRIML2_uc011clf.1_Missense_Mutation_p.D86G	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	36	Potential.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TTCTTGCTCATCAGTCAATAT	0.378													C	189026019	T	C	189026019	3	2	26	1	0	0	0	0	1	0	0	0	16548	1435	50	3	1080	3	TRIML2	4	189026019	Missense_Mutation	SNP	T	TCGA-BR-4371-01A-01D-1158-08	32890613	189026019	2128257	48	23817											
ADAMTS12	81792	broad.mit.edu	37	chr5	33577248	33577248	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgaatccgcactccaccAccacaggaaacagaacacta	6	16	0	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr5:33577248A>G	uc003jia.1	-	19	3046	c.2883T>C	c.(2881-2883)GGT>GGC	p.G961G	ADAMTS12_uc010iuq.1_Silent_p.G876G	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	961	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GCACTCCACCACCACAGGAAA	0.493										HNSCC(64;0.19)			G	33577248	A	G	33577248	2	3	26	1	0	0	0	0	0	0	0	1	257	146	6	3		3	ADAMTS12	5	33577248	Silent	SNP	A	TCGA-BR-4371-01A-01D-1158-08		33577248	147338012	49	23818											
SLC1A3	6507	broad.mit.edu	37	chr5	36684095	36684095	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcatcgcggtggactgGttcctgtgagtatgcttggc	13	10	2	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr5:36684095G>T	uc003jkj.3	+	9	1895	c.1419G>T	c.(1417-1419)TGG>TGT	p.W473C	SLC1A3_uc011cox.1_Missense_Mutation_p.W366C|SLC1A3_uc010iuy.2_Intron	NM_004172	NP_004163	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity	473					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	CGGTGGACTGGTTCCTGTGAG	0.577													T	36684095	G	T	36684095	3	4	26	1	0	0	0	0	1	0	0	0	14433	1270	44	5	1466	5	SLC1A3	5	36684095	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	3106847	36684095	144231165	50	23819											
HCN1	348980	broad.mit.edu	37	chr5	45262221	45262221	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccccctgcctgaaggccCgttccggggaccgccgtcac	12	19	1	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr5:45262221C>T	uc003jok.2	-	8	2500	c.2475G>A	c.(2473-2475)ACG>ACA	p.T825T		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	825	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						CCTGAAGGCCCGTTCCGGGGA	0.672													T	45262221	C	T	45262221	2	4	26	1	0	0	0	0	0	0	0	1	6996	639	23	1		1	HCN1	5	45262221	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	8578126	45262221	135653039	51	23820											
MAP1B	4131	broad.mit.edu	37	chr5	71493006	71493006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagacccccctgggtgaacGtagtgtgaacttctctctga	10	11	2	4			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr5:71493006G>A	uc003kbw.3	+	5	4065	c.3824G>A	c.(3823-3825)CGT>CAT	p.R1275H	MAP1B_uc010iyw.1_Missense_Mutation_p.R1292H|MAP1B_uc010iyx.1_Missense_Mutation_p.R1149H|MAP1B_uc010iyy.1_Missense_Mutation_p.R1149H	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1275						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTGGGTGAACGTAGTGTGAAC	0.517													A	71493006	G	A	71493006	3	1	26	1	0	0	0	0	1	0	0	0	9228	1145	40	1	3842	1	MAP1B	5	71493006	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	26230785	71493006	109422254	52	23821											
ZNF366	167465	broad.mit.edu	37	chr5	71756781	71756781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggggaacatgaggcccggGtggactttggggtagtaggg	20	5	0	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr5:71756781G>A	uc003kce.1	-	2	729	c.543C>T	c.(541-543)CAC>CAT	p.H181H		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGAGGCCCGGGTGGACTTTGG	0.667													A	71756781	G	A	71756781	2	1	26	1	0	0	0	0	0	0	0	1	17867	1252	44	4		4	ZNF366	5	71756781	Silent	SNP	G	TCGA-BR-4371-01A-01D-1158-08	263775	71756781	109158479	53	23822											
PCDHA1	56147	broad.mit.edu	37	chr5	140168105	140168105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactctggtgtgctccagcGcgttggggagctggtcgaac	15	12	1	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr5:140168105G>A	uc003lhb.2	+	1	2230	c.2230G>A	c.(2230-2232)GCG>ACG	p.A744T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.A744T	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	744	Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTCCAGCGCGTTGGGGAG	0.662													A	140168105	G	A	140168105	3	1	26	1	0	0	0	0	1	0	0	0	11519	1087	38	1	2232	1	PCDHA1	5	140168105	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	68411324	140168105	40747155	54	23823											
PCDHGA5	56110	broad.mit.edu	37	chr5	140744135	140744135	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctttttgccctgaacccgCgaagcggcagcttggtcacc	11	14	1	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr5:140744135C>T	uc003lju.1	+	1	238	c.238C>T	c.(238-240)CGA>TGA	p.R80*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Nonsense_Mutation_p.R80*	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	80	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGAACCCGCGAAGCGGCAG	0.607													T	140744135	C	T	140744135	4	4	26	1	0	0	0	0	0	1	0	0	11557	760	27	1	240	1	PCDHGA5	5	140744135	Nonsense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	576030	140744135	40171125	55	23824											
PCDHGA6	56109	broad.mit.edu	37	chr5	140754857	140754857	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatcagttggcaattattatCgattagtgacaaatgcagct	8	6	1	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr5:140754857C>T	uc003ljy.1	+	1	1207	c.1207C>T	c.(1207-1209)CGA>TGA	p.R403*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Nonsense_Mutation_p.R403*	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	403	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATTATTATCGATTAGTGAC	0.458													T	140754857	C	T	140754857	4	4	26	1	0	0	0	0	0	1	0	0	11558	876	31	1	1209	1	PCDHGA6	5	140754857	Nonsense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	10722	140754857	40160403	56	23825											
FAM71B	153745	broad.mit.edu	37	chr5	156590250	156590250	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcacccaccaaggccaaGctaataccctctgaggatat	8	14	1	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr5:156590250G>T	uc003lwn.2	-	2	1126	c.1026C>A	c.(1024-1026)AGC>AGA	p.S342R		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	342						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAAGGCCAAGCTAATACCCT	0.572													T	156590250	G	T	156590250	3	4	26	1	0	0	0	0	1	0	0	0	5608	962	34	5	795	5	FAM71B	5	156590250	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	15835393	156590250	24325010	57	23826											
DOCK2	1794	broad.mit.edu	37	chr5	169494638	169494638	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacccactctccatgctccTgaacgggattgtggaccctg	9	15	1	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr5:169494638T>C	uc003maf.2	+	45	4672	c.4592T>C	c.(4591-4593)CTG>CCG	p.L1531P	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.L1023P|DOCK2_uc003mah.2_Missense_Mutation_p.L87P	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1531	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCATGCTCCTGAACGGGATT	0.527													C	169494638	T	C	169494638	3	2	26	1	0	0	0	0	1	0	0	0	4687	1580	55	3	4770	3	DOCK2	5	169494638	Missense_Mutation	SNP	T	TCGA-BR-4371-01A-01D-1158-08	12904388	169494638	11420622	58	23827											
DOCK2	1794	broad.mit.edu	37	chr5	169504824	169504824	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgactgcagcacccccagCaagcctacctcagagaggtc	9	16	2	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr5:169504824C>A	uc003maf.2	+	48	5057	c.4977C>A	c.(4975-4977)AGC>AGA	p.S1659R	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.S1151R|DOCK2_uc003mah.2_Missense_Mutation_p.S215R	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1659					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCACCCCCAGCAAGCCTACCT	0.602													A	169504824	C	A	169504824	3	1	26	1	0	0	0	0	1	0	0	0	4687	709	25	5	5167	5	DOCK2	5	169504824	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	10186	169504824	11410436	59	23828											
CPEB4	80315	broad.mit.edu	37	chr5	173378844	173378844	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	taggtccagattcggccttgGaatctcagtgacagtgactt	11	9	1	3			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr5:173378844G>T	uc003mcs.3	+	8	3089	c.1683G>T	c.(1681-1683)TGG>TGT	p.W561C	CPEB4_uc010jju.1_Missense_Mutation_p.W536C|CPEB4_uc010jjv.2_Missense_Mutation_p.W544C|CPEB4_uc011dfg.1_Missense_Mutation_p.W536C|CPEB4_uc003mct.3_Missense_Mutation_p.W171C|CPEB4_uc003mcu.3_Missense_Mutation_p.W154C	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	561	RRM 1.						nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTCGGCCTTGGAATCTCAGTG	0.403													T	173378844	G	T	173378844	3	4	26	1	0	0	0	0	1	0	0	0	3803	1183	41	5	1713	5	CPEB4	5	173378844	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	3874020	173378844	7536416	60	23829											
ZFP2	80108	broad.mit.edu	37	chr5	178359618	178359618	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagagaactcatacaggagAgaaaccctatcagtgtaatg	9	8	3	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr5:178359618A>G	uc003mjn.1	+	5	1813	c.1304A>G	c.(1303-1305)GAG>GGG	p.E435G	ZFP2_uc010jky.2_Missense_Mutation_p.E435G|ZFP2_uc010jkx.1_Missense_Mutation_p.E435G	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		CATACAGGAGAGAAACCCTAT	0.423													G	178359618	A	G	178359618	3	3	26	1	0	0	0	0	1	0	0	0	17638	304	11	3	1306	3	ZFP2	5	178359618	Missense_Mutation	SNP	A	TCGA-BR-4371-01A-01D-1158-08	4980774	178359618	2555642	61	23830											
TBC1D9B	23061	broad.mit.edu	37	chr5	179315209	179315209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctctgcaccaagaaatcaCggtctttcaggttggcaaac	8	12	4	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr5:179315209C>T	uc003mlh.2	-	7	1185	c.1148G>A	c.(1147-1149)CGT>CAT	p.R383H	TBC1D9B_uc003mli.2_Missense_Mutation_p.R383H|TBC1D9B_uc003mlj.2_Missense_Mutation_p.R383H	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	383						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAGAAATCACGGTCTTTCAG	0.527													T	179315209	C	T	179315209	3	4	26	1	0	0	0	0	1	0	0	0	15625	536	19	1	2668	1	TBC1D9B	5	179315209	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	955591	179315209	1600051	62	23831											
PARK2	5071	broad.mit.edu	37	chr6	162394349	162394349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacctgacgtctgtgcacGtaatgcaagtgatgttccga	10	10	1	2	rs137853054		TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr6:162394349G>A	uc003qtx.3	-	6	853	c.719C>T	c.(718-720)ACG>ATG	p.T240M	PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Missense_Mutation_p.T49M|PARK2_uc003qtw.3_Missense_Mutation_p.T49M|PARK2_uc003qty.3_Missense_Mutation_p.T212M|PARK2_uc003qtz.3_Missense_Mutation_p.T91M|PARK2_uc010kke.1_Missense_Mutation_p.T240M	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	240	RING-type 1; atypical.		T -> M (in PARK; late onset).|T -> R (in PARK2; impairs the ability to ubiquitinate SNCAIP and BCL2; loss of UBE2L3 binding; severely compromises the mitochondrial localization).		aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.T240M(1)		upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTCTGTGCACGTAATGCAAGT	0.448													A	162394349	G	A	162394349	3	1	26	1	0	0	0	0	1	0	0	0	11449	1145	40	1	706	1	PARK2	6	162394349	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08		162394349	8720718	63	23832											
SMOC2	64094	broad.mit.edu	37	chr6	168927051	168927051	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tccaggtgtgtggccgaaagGaagtatacccaggagcaagc	14	9	0	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr6:168927051G>C	uc003qws.1	+	3	302	c.282G>C	c.(280-282)AGG>AGC	p.R94S	SMOC2_uc003qwr.1_Missense_Mutation_p.R94S	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	94	Thyroglobulin type-1 1.				signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TGGCCGAAAGGAAGTATACCC	0.507													C	168927051	G	C	168927051	3	2	26	1	0	0	0	0	1	0	0	0	14802	1165	41	5	292	5	SMOC2	6	168927051	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	6532702	168927051	2188016	64	23833											
HECW1	23072	broad.mit.edu	37	chr7	43351573	43351573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctcggacagccgctccaCgctcatggtcagcagctcct	9	18	2	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr7:43351573C>T	uc003tid.1	+	4	844	c.239C>T	c.(238-240)ACG>ATG	p.T80M	HECW1_uc011kbi.1_Missense_Mutation_p.T80M|HECW1_uc003tie.1_Missense_Mutation_p.T112M	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	80					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						AGCCGCTCCACGCTCATGGTC	0.617													T	43351573	C	T	43351573	3	4	26	1	0	0	0	0	1	0	0	0	7042	536	19	1	245	1	HECW1	7	43351573	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08		43351573	115787090	65	23834											
PCLO	27445	broad.mit.edu	37	chr7	82584626	82584626	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcaatttataaactttTtgtacttctattattttttc	5	5	1	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr7:82584626T>C	uc003uhx.2	-	5	5932	c.5643A>G	c.(5641-5643)CAA>CAG	p.Q1881Q	PCLO_uc003uhv.2_Silent_p.Q1881Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1812					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TATAAACTTTTTGTACTTCTA	0.378													C	82584626	T	C	82584626	2	2	26	1	0	0	0	0	0	0	0	1	11583	1838	64	3		3	PCLO	7	82584626	Silent	SNP	T	TCGA-BR-4371-01A-01D-1158-08	39233053	82584626	76554037	66	23835											
TRRAP	8295	broad.mit.edu	37	chr7	98522858	98522858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggaggacaacaagcacGcactctaccagctcctggca	10	15	1	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr7:98522858G>A	uc003upp.2	+	22	3156	c.2947G>A	c.(2947-2949)GCA>ACA	p.A983T	TRRAP_uc011kis.1_Missense_Mutation_p.A983T|TRRAP_uc003upr.2_Missense_Mutation_p.A675T	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	983					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAACAAGCACGCACTCTACCA	0.577													A	98522858	G	A	98522858	3	1	26	1	0	0	0	0	1	0	0	0	16598	1087	38	1	3029	1	TRRAP	7	98522858	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	15938232	98522858	60615805	67	23836											
LRCH4	4034	broad.mit.edu	37	chr7	100172852	100172852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagggccttgccccccacccGcttcacggcctccagcgcgg	11	20	1	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr7:100172852G>A	uc003uvj.2	-	18	1983	c.1930C>T	c.(1930-1932)CGG>TGG	p.R644W	uc003uvh.2_5'Flank|LRCH4_uc010lgz.2_RNA|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjw.1_3'UTR	NM_002319	NP_002310	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH)	644	CH.				nervous system development	PML body	protein binding			large_intestine(1)|ovary(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCCCCACCCGCTTCACGGCC	0.692													A	100172852	G	A	100172852	3	1	26	1	0	0	0	0	1	0	0	0	8935	1086	38	1	125	1	LRCH4	7	100172852	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	1649994	100172852	58965811	68	23837											
RELN	5649	broad.mit.edu	37	chr7	103234860	103234860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcccactggtcatagtcctCccctgagaacacgggctgcc	10	16	1	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr7:103234860C>T	uc003vca.2	-	26	3779	c.3619G>A	c.(3619-3621)GAG>AAG	p.E1207K	RELN_uc010liz.2_Missense_Mutation_p.E1207K	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1207					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCATAGTCCTCCCCTGAGAAC	0.488													T	103234860	C	T	103234860	3	4	26	1	0	0	0	0	1	0	0	0	13220	864	30	4	6923	4	RELN	7	103234860	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	3062008	103234860	55903803	69	23838											
PIK3CG	5294	broad.mit.edu	37	chr7	106545598	106545598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccttcgtcatcacacaaaCctactgatcatcctgttctc	4	16	4	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr7:106545598C>T	uc003vdv.3	+	11	3160	c.3075C>T	c.(3073-3075)AAC>AAT	p.N1025N	PIK3CG_uc003vdu.2_Silent_p.N1025N|PIK3CG_uc003vdw.2_Silent_p.N1025N	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	1025	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						ATCACACAAACCTACTGATCA	0.433													T	106545598	C	T	106545598	2	4	26	1	0	0	0	0	0	0	0	1	11916	506	18	4		4	PIK3CG	7	106545598	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	3310738	106545598	52593065	70	23839											
CHRM2	1129	broad.mit.edu	37	chr7	136699991	136699991	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggtacttctgtgtcacaAaacctctgacctacccagtc	6	14	3	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr7:136699991A>G	uc003vtf.1	+	4	1002	c.379A>G	c.(379-381)AAA>GAA	p.K127E	CHRM2_uc003vtg.1_Missense_Mutation_p.K127E|CHRM2_uc003vtj.1_Missense_Mutation_p.K127E|CHRM2_uc003vtk.1_Missense_Mutation_p.K127E|CHRM2_uc003vtl.1_Missense_Mutation_p.K127E|CHRM2_uc003vtm.1_Missense_Mutation_p.K127E|CHRM2_uc003vti.1_Missense_Mutation_p.K127E|CHRM2_uc003vto.1_Missense_Mutation_p.K127E|CHRM2_uc003vtn.1_Missense_Mutation_p.K127E|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	127	Cytoplasmic (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CTGTGTCACAAAACCTCTGAC	0.502													G	136699991	A	G	136699991	3	3	26	1	0	0	0	0	1	0	0	0	3377	15	1	3	381	3	CHRM2	7	136699991	Missense_Mutation	SNP	A	TCGA-BR-4371-01A-01D-1158-08	30154393	136699991	22438672	71	23840											
XPO7	23039	broad.mit.edu	37	chr8	21827733	21827733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacttattcagttatatgCcagaatcacaaaactgggct	7	9	2	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr8:21827733C>T	uc003xaa.3	+	4	440	c.338C>T	c.(337-339)GCC>GTC	p.A113V	XPO7_uc010lti.2_Missense_Mutation_p.A113V|XPO7_uc010ltj.1_RNA|XPO7_uc010ltk.2_Missense_Mutation_p.A114V	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	113					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CAGTTATATGCCAGAATCACA	0.408													T	21827733	C	T	21827733	3	4	26	1	0	0	0	0	1	0	0	0	17446	739	26	2	377	2	XPO7	8	21827733	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08		21827733	124536289	72	23841											
TEX15	56154	broad.mit.edu	37	chr8	30699870	30699870	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgggccatttttcctaaatCtttcctaggggcagacatta	9	9	1	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr8:30699870C>A	uc003xil.2	-	1	6664	c.6664G>T	c.(6664-6666)GAT>TAT	p.D2222Y		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2222										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTCCTAAATCTTTCCTAGGG	0.343													A	30699870	C	A	30699870	3	1	26	1	0	0	0	0	1	0	0	0	15776	913	32	5	1721	5	TEX15	8	30699870	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	8872137	30699870	115664152	73	23842											
ADAM32	203102	broad.mit.edu	37	chr8	39080734	39080734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccatgatctcgatgcacGttgtgagagtgtatttggaa	12	7	1	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr8:39080734G>A	uc003xmt.3	+	14	1747	c.1502G>A	c.(1501-1503)CGT>CAT	p.R501H	ADAM32_uc011lch.1_Missense_Mutation_p.R402H|ADAM32_uc003xmu.3_Missense_Mutation_p.R395H|ADAM32_uc003xmv.2_Missense_Mutation_p.V23I	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	a disintegrin and metalloprotease domain 32	501	Extracellular (Potential).|Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CTCGATGCACGTTGTGAGAGT	0.338													A	39080734	G	A	39080734	3	1	26	1	0	0	0	0	1	0	0	0	249	1145	40	1	1556	1	ADAM32	8	39080734	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	8380864	39080734	107283288	74	23843											
RP1	6101	broad.mit.edu	37	chr8	55540977	55540977	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgatagacatctctagtaAgaatattatggaagaaaaaa	7	3	1	4			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr8:55540977A>C	uc003xsd.1	+	4	4683	c.4535A>C	c.(4534-4536)AAG>ACG	p.K1512T	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1512					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATCTCTAGTAAGAATATTATG	0.333													C	55540977	A	C	55540977	3	2	26	1	0	0	0	0	1	0	0	0	13532	72	3	5	4545	5	RP1	8	55540977	Missense_Mutation	SNP	A	TCGA-BR-4371-01A-01D-1158-08	16460243	55540977	90823045	75	23844											
CHD7	55636	broad.mit.edu	37	chr8	61778367	61778367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagagacccttgaaggcagcGatgccgaggagagcctggat	16	9	0	3			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr8:61778367G>A	uc003xue.2	+	38	9346	c.8869G>A	c.(8869-8871)GAT>AAT	p.D2957N		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2957					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGAAGGCAGCGATGCCGAGGA	0.532													A	61778367	G	A	61778367	3	1	26	1	0	0	0	0	1	0	0	0	3330	1058	37	1	9015	1	CHD7	8	61778367	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	6237390	61778367	84585655	76	23845											
PREX2	80243	broad.mit.edu	37	chr8	69002885	69002885	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaatggaatcaatgtcagcAaagagacacatgccagtgtc	10	8	2	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr8:69002885A>T	uc003xxv.1	+	20	2212	c.2185A>T	c.(2185-2187)AAA>TAA	p.K729*	PREX2_uc003xxu.1_Nonsense_Mutation_p.K729*|PREX2_uc011lez.1_Nonsense_Mutation_p.K664*	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	729	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CAATGTCAGCAAAGAGACACA	0.463													T	69002885	A	T	69002885	4	4	26	1	0	0	0	0	0	1	0	0	12477	131	5	5	2263	5	PREX2	8	69002885	Nonsense_Mutation	SNP	A	TCGA-BR-4371-01A-01D-1158-08	7224518	69002885	77361137	77	23846											
ZNF704	619279	broad.mit.edu	37	chr8	81553607	81553607	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcctgggggtctctcagtcGaggaacctctggcaggcctt	14	12	3	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr8:81553607G>A	uc003yby.1	-	9	1465	c.1233C>T	c.(1231-1233)CTC>CTT	p.L411L		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	411						intracellular	zinc ion binding				0	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCTCTCAGTCGAGGAACCTCT	0.602													A	81553607	G	A	81553607	2	1	26	1	0	0	0	0	0	0	0	1	18104	1045	37	1		1	ZNF704	8	81553607	Silent	SNP	G	TCGA-BR-4371-01A-01D-1158-08	12550722	81553607	64810415	78	23847											
ASAP1	50807	broad.mit.edu	37	chr8	131129220	131129220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaactgtgtttcccagggcCgtctgcttatccaggttccc	10	13	1	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr8:131129220C>T	uc003yta.1	-	20	1930	c.1902G>A	c.(1900-1902)ACG>ACA	p.T634T	ASAP1_uc003ysz.1_Silent_p.T445T|ASAP1_uc011liw.1_Silent_p.T627T	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	634					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						TTCCCAGGGCCGTCTGCTTAT	0.378													T	131129220	C	T	131129220	2	4	26	1	0	0	0	0	0	0	0	1	1010	639	23	1		1	ASAP1	8	131129220	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	49575613	131129220	15234802	79	23848											
C8orf31	286122	broad.mit.edu	37	chr8	144126205	144126205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccaagcatctgtagcagCgcagaccctgagctgggaga	13	13	1	3			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr8:144126205C>T	uc003yxp.1	+	4	678	c.326C>T	c.(325-327)GCG>GTG	p.A109V	C8orf31_uc003yxq.1_RNA|C8orf31_uc003yxr.1_RNA	NM_173687	NP_775958	Q8N9H6	CH031_HUMAN	hypothetical protein LOC286122	109										ovary(1)	1	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCTGTAGCAGCGCAGACCCTG	0.612													T	144126205	C	T	144126205	3	4	26	1	0	0	0	0	1	0	0	0	2420	768	27	1	336	1	C8orf31	8	144126205	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	12996985	144126205	2237817	80	23849											
GRHPR	9380	broad.mit.edu	37	chr9	37422818	37422818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagggtagggtcgcgctcgCccgggcggcagagtaagagc	19	11	0	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr9:37422818C>T	uc003zzu.1	+	1	112	c.71C>T	c.(70-72)GCC>GTC	p.A24V	GRHPR_uc010mlu.2_Intron|GRHPR_uc010mlv.1_Intron|GRHPR_uc003zzt.1_Intron	NM_012203	NP_036335	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	24					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding				0				GBM - Glioblastoma multiforme(29;0.00687)		GTCGCGCTCGCCCGGGCGGCA	0.726													T	37422818	C	T	37422818	3	4	26	1	0	0	0	0	1	0	0	0	6766	739	26	2	73	2	GRHPR	9	37422818	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08		37422818	103790613	81	23850											
ASTN2	23245	broad.mit.edu	37	chr9	119858332	119858332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacactattacctttgctgcGgcggcgactgcggtactgct	12	12	0	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr9:119858332G>A	uc004bjs.1	-	5	1368	c.1267C>T	c.(1267-1269)CGC>TGC	p.R423C	ASTN2_uc004bjr.1_Missense_Mutation_p.R423C|ASTN2_uc004bjt.1_Missense_Mutation_p.R372C	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	423	Cytoplasmic (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						CCTTTGCTGCGGCGGCGACTG	0.498													A	119858332	G	A	119858332	3	1	26	1	0	0	0	0	1	0	0	0	1065	1116	39	1	3060	1	ASTN2	9	119858332	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	82435514	119858332	21355099	82	23851											
GPR21	2844	broad.mit.edu	37	chr9	125797698	125797698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccacagcaaccgcttcGcatccttcttgaccacctgg	8	17	1	1	rs142528272		TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr9:125797698G>A	uc011lzk.1	+	1	853	c.853G>A	c.(853-855)GCA>ACA	p.A285T	RABGAP1_uc004bnl.3_Intron|RABGAP1_uc011lzh.1_Intron|RABGAP1_uc011lzj.1_Intron|GPR21_uc011lzi.1_RNA	NM_005294	NP_005285	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	285	Helical; Name=7; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1						CAACCGCTTCGCATCCTTCTT	0.438													A	125797698	G	A	125797698	3	1	26	1	0	0	0	0	1	0	0	0	6681	1087	38	1	855	1	GPR21	9	125797698	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	5939366	125797698	15415733	83	23852											
LAMC3	10319	broad.mit.edu	37	chr9	133936523	133936523	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaagccgacgactgccagCcctgtccctgccctggccag	11	19	0	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr9:133936523C>A	uc004caa.1	+	13	2358	c.2260C>A	c.(2260-2262)CCC>ACC	p.P754T		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	754	Laminin EGF-like 6.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CGACTGCCAGCCCTGTCCCTG	0.637													A	133936523	C	A	133936523	3	1	26	1	0	0	0	0	1	0	0	0	8616	739	26	5	2310	5	LAMC3	9	133936523	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	8138825	133936523	7276908	84	23853											
RALGDS	5900	broad.mit.edu	37	chr9	135978249	135978249	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgtagttgttgcaggcCgactgcagcagcttgatctg	13	9	1	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr9:135978249C>T	uc004cco.2	-	13	1850	c.1830G>A	c.(1828-1830)TCG>TCA	p.S610S	RALGDS_uc004ccn.2_5'Flank|RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Silent_p.S598S|RALGDS_uc004ccr.2_Silent_p.S609S|RALGDS_uc011mcv.1_Silent_p.S581S|RALGDS_uc004ccs.2_Silent_p.S555S|RALGDS_uc011mcw.1_Silent_p.S681S|RALGDS_uc004ccv.1_Silent_p.S379S|RALGDS_uc004ccu.1_Silent_p.S379S	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	610	Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TGTTGCAGGCCGACTGCAGCA	0.662			T	CIITA	PMBL|Hodgkin Lymphona|						OREG0019581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	135978249	C	T	135978249	2	4	26	1	0	0	0	0	0	0	0	1	13016	639	23	1		1	RALGDS	9	135978249	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	2041726	135978249	5235182	85	23854											
COL5A1	1289	broad.mit.edu	37	chr9	137734065	137734065	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaaagtggagcaggtgccCatcgtggacatcatgttcaa	11	11	2	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr9:137734065C>A	uc004cfe.2	+	66	5815	c.5433C>A	c.(5431-5433)CCC>CCA	p.P1811P	uc004cff.2_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1811	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGCAGGTGCCCATCGTGGACA	0.562													A	137734065	C	A	137734065	2	1	26	1	0	0	0	0	0	0	0	1	3696	581	21	5		5	COL5A1	9	137734065	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	1755816	137734065	3479366	86	23855											
FAM166A	401565	broad.mit.edu	37	chr9	140139643	140139643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcggcgggcggggggtgGgtactcatccctctggcagt	19	11	2	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr9:140139643G>A	uc004cmi.1	-	4	605	c.550C>T	c.(550-552)CCA>TCA	p.P184S		NM_001001710	NP_001001710	Q6J272	F166A_HUMAN	hypothetical protein LOC401565	184										ovary(1)	1						GCGGGGGGTGGGTACTCATCC	0.662													A	140139643	G	A	140139643	3	1	26	1	0	0	0	0	1	0	0	0	5481	1232	43	4	419	4	FAM166A	9	140139643	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	2405578	140139643	1073788	87	23856											
CUBN	8029	broad.mit.edu	37	chr10	16911646	16911646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattcttacccaatgtctgcCggaaagacatcttccagcct	6	13	3	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr10:16911646C>T	uc001ioo.2	-	59	9495	c.9443G>A	c.(9442-9444)CGG>CAG	p.R3148Q	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.R504Q	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3148	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAATGTCTGCCGGAAAGACAT	0.468													T	16911646	C	T	16911646	3	4	26	1	0	0	0	0	1	0	0	0	4051	652	23	1	1464	1	CUBN	10	16911646	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08		16911646	118623101	88	23857											
OGDHL	55753	broad.mit.edu	37	chr10	50953852	50953852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagacccaccaggtccaCgacaacatctttgttgaaag	7	15	1	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr10:50953852C>T	uc001jie.2	-	11	1610	c.1468G>A	c.(1468-1470)GTG>ATG	p.V490M	OGDHL_uc009xog.2_Missense_Mutation_p.V517M|OGDHL_uc010qgt.1_Missense_Mutation_p.V433M|OGDHL_uc010qgu.1_Missense_Mutation_p.V281M|OGDHL_uc009xoh.2_Missense_Mutation_p.V281M	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	490					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						ACCAGGTCCACGACAACATCT	0.557													T	50953852	C	T	50953852	3	4	26	1	0	0	0	0	1	0	0	0	10840	536	19	1	1616	1	OGDHL	10	50953852	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	34042206	50953852	84580895	89	23858											
PLCE1	51196	broad.mit.edu	37	chr10	96066442	96066442	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccactgaaagctttaaaaCgaggtagaataaaattgtcc	7	7	0	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr10:96066442C>T	uc001kjk.2	+	26	6515	c.5881C>T	c.(5881-5883)CGA>TGA	p.R1961*	PLCE1_uc010qnx.1_Nonsense_Mutation_p.R1945*|PLCE1_uc001kjm.2_Nonsense_Mutation_p.R1653*|PLCE1_uc001kjp.2_Nonsense_Mutation_p.R319*	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1961					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				AGCTTTAAAACGaggtagaat	0.199													T	96066442	C	T	96066442	4	4	26	1	0	0	0	0	0	1	0	0	12034	528	19	1	6265	1	PLCE1	10	96066442	Nonsense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	45112590	96066442	39468305	90	23859											
UBTD1	80019	broad.mit.edu	37	chr10	99330046	99330046	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgcgccgtgagttcccGctgaaggtgcgcctgtccac	14	14	0	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr10:99330046G>T	uc001knv.1	+	3	643	c.450G>T	c.(448-450)CCG>CCT	p.P150P	ANKRD2_uc001knw.2_5'Flank|ANKRD2_uc009xvu.2_5'Flank	NM_024954	NP_079230	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	150	Ubiquitin-like.										0		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		GTGAGTTCCCGCTGAAGGTGC	0.692													T	99330046	G	T	99330046	2	4	26	1	0	0	0	0	0	0	0	1	16904	1074	38	5		5	UBTD1	10	99330046	Silent	SNP	G	TCGA-BR-4371-01A-01D-1158-08	3263604	99330046	36204701	91	23860											
ENTPD7	57089	broad.mit.edu	37	chr10	101464232	101464232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttcggcaggaaggtgtccGacaagcccatggtagctggt	14	10	1	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr10:101464232G>A	uc001kqa.3	+	13	1785	c.1607G>A	c.(1606-1608)CGA>CAA	p.R536Q	ENTPD7_uc009xwl.2_Missense_Mutation_p.R538Q	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	536	Vesicular (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GAAGGTGTCCGACAAGCCCAT	0.448													A	101464232	G	A	101464232	3	1	26	1	0	0	0	0	1	0	0	0	5144	1058	37	1	1653	1	ENTPD7	10	101464232	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	2134186	101464232	34070515	92	23861											
TECTB	6975	broad.mit.edu	37	chr10	114059304	114059304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccgggggagtcctggtcGtggagctctccctgcggagt	17	11	1	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr10:114059304G>A	uc001kzr.1	+	8	889	c.889G>A	c.(889-891)GTG>ATG	p.V297M		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	tectorin beta precursor	297						anchored to membrane|plasma membrane|proteinaceous extracellular matrix					0		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		AGTCCTGGTCGTGGAGCTCTC	0.597													A	114059304	G	A	114059304	3	1	26	1	0	0	0	0	1	0	0	0	15745	1145	40	1	919	1	TECTB	10	114059304	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	12595072	114059304	21475443	93	23862											
ZDHHC6	64429	broad.mit.edu	37	chr10	114200363	114200363	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caaggcaaacaaggtggtagCaaatgcagctaatccaaatg	10	8	0	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr10:114200363C>G	uc001kzv.2	-	5	1034	c.610G>C	c.(610-612)GCT>CCT	p.A204P	ZDHHC6_uc001kzw.2_Missense_Mutation_p.A200P|ZDHHC6_uc009xya.1_Missense_Mutation_p.A204P	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	204						integral to membrane	acyltransferase activity|zinc ion binding				0		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		AAGGTGGTAGCAAATGCAGCT	0.448													G	114200363	C	G	114200363	3	3	26	1	0	0	0	0	1	0	0	0	17616	710	25	5	659	5	ZDHHC6	10	114200363	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	141059	114200363	21334384	94	23863											
DKK3	27122	broad.mit.edu	37	chr11	11987447	11987447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatgaggtccagaagccGgctggcggggtcatggcaaa	18	8	1	3			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr11:11987447G>A	uc001mju.2	-	6	796	c.739C>T	c.(739-741)CGG>TGG	p.R247W	DKK3_uc010rcf.1_Missense_Mutation_p.R219W|DKK3_uc001mjv.2_Missense_Mutation_p.R247W|DKK3_uc001mjw.2_Missense_Mutation_p.R247W|DKK3_uc010rcg.1_Missense_Mutation_p.R247W	NM_001018057	NP_001018067	Q9UBP4	DKK3_HUMAN	dickkopf homolog 3 precursor	247	DKK-type Cys-2.				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(1)	1				Epithelial(150;0.000502)		TCCAGAAGCCGGCTGGCGGGG	0.672													A	11987447	G	A	11987447	3	1	26	1	0	0	0	0	1	0	0	0	4546	1115	39	1	321	1	DKK3	11	11987447	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08		11987447	123019069	95	23864											
PTPRJ	5795	broad.mit.edu	37	chr11	48171647	48171647	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgataagttttgttttcttaGatctaagttaatcagagtgg	9	3	3	3			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr11:48171647G>T	uc001ngp.3	+	18	3406	c.3051_splice	c.e18-1	p.K1017_splice		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J						contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						TGTTTTCTTAGATCTAAGTTA	0.338													T	48171647	G	T	48171647	5	4	26	1	0	0	0	0	0	0	1	0	12804	956	33	5	3129	5	PTPRJ	11	48171647	Splice_Site	SNP	G	TCGA-BR-4371-01A-01D-1158-08	36184200	48171647	86834869	96	23865											
OR4A5	81318	broad.mit.edu	37	chr11	51411489	51411489	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctataataaatatagttaActttttacccaagagttttt	3	6	0	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr11:51411489A>C	uc001nhi.1	-	1	907	c.907T>G	c.(907-909)TTA>GTA	p.L303V		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	303	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				AATATAGTTAACTTTTTACCC	0.363													C	51411489	A	C	51411489	3	2	26	1	0	0	0	0	1	0	0	0	11043	40	2	5	44	5	OR4A5	11	51411489	Missense_Mutation	SNP	A	TCGA-BR-4371-01A-01D-1158-08	3239842	51411489	83595027	97	23866			1	6		2	2	14	N	G_A	7.642646e-05
OR4A5	81318	broad.mit.edu	37	chr11	51411502	51411502	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atagttaactttttacccaaGagtttttctatagcatttct	4	7	2	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr11:51411502G>A	uc001nhi.1	-	1	894	c.894C>T	c.(892-894)CTC>CTT	p.L298L		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	298	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				TTTTACCCAAGAGTTTTTCTA	0.353													A	51411502	G	A	51411502	2	1	26	1	0	0	0	0	0	0	0	1	11043	929	33	4		4	OR4A5	11	51411502	Silent	SNP	G	TCGA-BR-4371-01A-01D-1158-08	13	51411502	83595014	98	23867			1	6		2	2	14	N	G_A	7.642646e-05
OR5D16	390144	broad.mit.edu	37	chr11	55606944	55606944	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccagtgggcaccgcaaagtCttctccacctgtgcctccca	9	17	2	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr11:55606944C>A	uc010rio.1	+	1	717	c.717C>A	c.(715-717)GTC>GTA	p.V239V		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	239	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_epithelial(135;0.208)				ACCGCAAAGTCTTCTCCACCT	0.488													A	55606944	C	A	55606944	2	1	26	1	0	0	0	0	0	0	0	1	11156	900	32	5		5	OR5D16	11	55606944	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	4195442	55606944	79399572	99	23868											
KLC2	64837	broad.mit.edu	37	chr11	66029349	66029349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacagcagaagctgcagcGcagtgagcaggccgtggccc	15	13	0	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr11:66029349G>A	uc010rov.1	+	3	608	c.365G>A	c.(364-366)CGC>CAC	p.R122H	KLC2_uc010row.1_Missense_Mutation_p.R122H|KLC2_uc009yra.2_Missense_Mutation_p.R122H|KLC2_uc001ohb.2_Missense_Mutation_p.R122H|KLC2_uc010rox.1_Intron|KLC2_uc001ohc.2_Missense_Mutation_p.R122H|KLC2_uc001ohd.2_Intron|KLC2_uc001ohe.1_5'UTR	NM_001134775	NP_001128247	Q9H0B6	KLC2_HUMAN	kinesin light chain 2 isoform 1	122	Potential.				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0						AAGCTGCAGCGCAGTGAGCAG	0.627													A	66029349	G	A	66029349	3	1	26	1	0	0	0	0	1	0	0	0	8334	1087	38	1	371	1	KLC2	11	66029349	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	10422405	66029349	68977167	100	23869											
CTSF	8722	broad.mit.edu	37	chr11	66333303	66333303	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagagcgagatgctcaccCtgttcagagagggagagcag	15	8	2	4			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr11:66333303C>T	uc001oip.2	-	7	1053	c.963G>A	c.(961-963)CAG>CAA	p.Q321Q		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	cathepsin F precursor	321					proteolysis	lysosome	cysteine-type endopeptidase activity				0						GATGCTCACCCTGTTCAGAGA	0.592													T	66333303	C	T	66333303	2	4	26	1	0	0	0	0	0	0	0	1	4034	695	24	4		4	CTSF	11	66333303	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	303954	66333303	68673213	101	23870											
NUMA1	4926	broad.mit.edu	37	chr11	71715113	71715113	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcttcttgggtgtgttgagGatgctgaaggccatcgactg	15	7	1	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr11:71715113G>A	uc001orl.1	-	26	6328	c.6156C>T	c.(6154-6156)ATC>ATT	p.I2052I	IL18BP_uc009ysu.1_Intron|NUMA1_uc001orj.2_Silent_p.I234I|NUMA1_uc009ysw.1_Silent_p.I1619I|NUMA1_uc001ork.1_Silent_p.I916I|NUMA1_uc001orm.1_Silent_p.I2038I	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	2052					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						GTGTGTTGAGGATGCTGAAGG	0.642			T	RARA	APL								A	71715113	G	A	71715113	2	1	26	1	0	0	0	0	0	0	0	1	10750	1164	41	4		4	NUMA1	11	71715113	Silent	SNP	G	TCGA-BR-4371-01A-01D-1158-08	5381810	71715113	63291403	102	23871											
PDE2A	5138	broad.mit.edu	37	chr11	72295734	72295734	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtggtcgccacgtgtccCgcgatgccctgatcggccgg	14	17	0	1	rs150054293	byFrequency	TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr11:72295734C>T	uc010rrc.1	-	18	1641	c.1398G>A	c.(1396-1398)GCG>GCA	p.A466A	PDE2A_uc001oso.2_Silent_p.A445A|PDE2A_uc010rra.1_Silent_p.A459A|PDE2A_uc001osn.2_Silent_p.A210A|PDE2A_uc010rrb.1_Silent_p.A457A|PDE2A_uc010rrd.1_Silent_p.A351A	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	466	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CCACGTGTCCCGCGATGCCCT	0.632													T	72295734	C	T	72295734	2	4	26	1	0	0	0	0	0	0	0	1	11636	639	23	1		1	PDE2A	11	72295734	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	580621	72295734	62710782	103	23872											
BUD13	84811	broad.mit.edu	37	chr11	116631555	116631555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcagaatcagagctccGgtgtctaggtctattccgtg	13	9	4	2	rs149005278		TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr11:116631555G>A	uc001ppn.2	-	5	1184	c.1150C>T	c.(1150-1152)CGG>TGG	p.R384W	BUD13_uc001ppo.2_Missense_Mutation_p.R250W|BUD13_uc009yzc.2_Missense_Mutation_p.R384W	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	BUD13 homolog isoform 1	384										large_intestine(1)|pancreas(1)	2	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TCAGAGCTCCGGTGTCTAGGT	0.517													A	116631555	G	A	116631555	3	1	26	1	0	0	0	0	1	0	0	0	1573	1115	39	1	733	1	BUD13	11	116631555	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	44335821	116631555	18374961	104	23873											
CXCR5	643	broad.mit.edu	37	chr11	118764855	118764855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacaacaactccctgccacGttgcaccttctcccaagaga	5	17	2	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr11:118764855G>A	uc001pue.3	+	2	712	c.602G>A	c.(601-603)CGT>CAT	p.R201H	CXCR5_uc001puf.2_Missense_Mutation_p.R156H	NM_001716	NP_001707	P32302	CXCR5_HUMAN	Burkitt lymphoma receptor 1 isoform 1	201	Extracellular (Potential).				B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TCCCTGCCACGTTGCACCTTC	0.567													A	118764855	G	A	118764855	3	1	26	1	0	0	0	0	1	0	0	0	4094	1145	40	1	608	1	CXCR5	11	118764855	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	2133300	118764855	16241661	105	23874											
FKBP4	2288	broad.mit.edu	37	chr12	2912353	2912353	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctcaggagaccatcccactGacacagagatgaaggaggag	12	11	1	4			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr12:2912353G>A	uc001qkz.2	+	10	1507	c.1309G>A	c.(1309-1311)GAC>AAC	p.D437N		NM_002014	NP_002005	Q02790	FKBP4_HUMAN	FK506 binding protein 52	437					negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging				0			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	CCATCCCACTGACACAGAGAT	0.552													A	2912353	G	A	2912353	3	1	26	1	0	0	0	0	1	0	0	0	5910	1290	45	4	1347	4	FKBP4	12	2912353	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08		2912353	130939542	106	23875											
PLEKHG6	55200	broad.mit.edu	37	chr12	6436922	6436922	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggggcctctgttcctgaaaGctggccacacatccctgcgc	11	15	1	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr12:6436922G>C	uc001qnr.2	+	15	2321	c.2173G>C	c.(2173-2175)GCT>CCT	p.A725P	PLEKHG6_uc010sew.1_Missense_Mutation_p.A725P|PLEKHG6_uc010sex.1_Missense_Mutation_p.A693P	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain-containing family G	725					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|skin(1)	2						GTTCCTGAAAGCTGGCCACAC	0.657													C	6436922	G	C	6436922	3	2	26	1	0	0	0	0	1	0	0	0	12074	971	34	5	2273	5	PLEKHG6	12	6436922	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	3524569	6436922	127414973	107	23876											
KIAA1467	57613	broad.mit.edu	37	chr12	13215850	13215850	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgccccagttgtggtactgCcagacttggatgaagacggt	13	10	0	3			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr12:13215850C>A	uc001rbi.2	+	5	816	c.793C>A	c.(793-795)CCA>ACA	p.P265T	KIAA1467_uc009zhx.1_RNA	NM_020853	NP_065904	A2RU67	K1467_HUMAN	hypothetical protein LOC57613	265						integral to membrane				central_nervous_system(2)|skin(1)	3		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGTGGTACTGCCAGACTTGGA	0.463													A	13215850	C	A	13215850	3	1	26	1	0	0	0	0	1	0	0	0	8235	739	26	5	811	5	KIAA1467	12	13215850	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	6778928	13215850	120636045	108	23877											
TMTC1	83857	broad.mit.edu	37	chr12	29665041	29665041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgggtttagttgcacagCcactctatagctctaaataa	8	9	3	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr12:29665041C>T	uc001rjb.2	-	17	2593	c.2119G>A	c.(2119-2121)GCT>ACT	p.A707T	TMTC1_uc001riz.2_Missense_Mutation_p.A464T|TMTC1_uc001rja.2_Missense_Mutation_p.A551T|TMTC1_uc001riy.2_Missense_Mutation_p.A160T	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	815	TPR 9.					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AGTTGCACAGCCACTCTATAG	0.443													T	29665041	C	T	29665041	3	4	26	1	0	0	0	0	1	0	0	0	16257	739	26	2	213	2	TMTC1	12	29665041	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	16449191	29665041	104186854	109	23878											
SP1	6667	broad.mit.edu	37	chr12	53775997	53775997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcccgagtcagtcaggggGaacaggtgagcttgacctca	16	10	3	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr12:53775997G>A	uc001scw.2	+	3	363	c.266G>A	c.(265-267)GGA>GAA	p.G89E	SP1_uc010sog.1_Missense_Mutation_p.G82E	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	89	Ser/Thr-rich.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CAGTCAGGGGGAACAGGTGAG	0.562													A	53775997	G	A	53775997	3	1	26	1	0	0	0	0	1	0	0	0	14959	1174	41	4	276	4	SP1	12	53775997	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	24110956	53775997	80075898	110	23879											
MIP	4284	broad.mit.edu	37	chr12	56845179	56845179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcagaaatactcttgagcCgggggaagagaagaaagtcg	13	7	2	4			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr12:56845179C>T	uc001slh.2	-	4	709	c.677G>A	c.(676-678)CGG>CAG	p.R226Q	TIMELESS_uc001slf.2_5'Flank|TIMELESS_uc001slg.2_5'Flank	NM_012064	NP_036196	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	226	Cytoplasmic (By similarity).				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			skin(1)	1						ACTCTTGAGCCGGGGGAAGAG	0.522													T	56845179	C	T	56845179	3	4	26	1	0	0	0	0	1	0	0	0	9591	652	23	1	118	1	MIP	12	56845179	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	3069182	56845179	77006716	111	23880											
NAB2	4665	broad.mit.edu	37	chr12	57487217	57487217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatgtccaaggctgacgcCgccccctgctgacctgcctc	10	18	1	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr12:57487217C>T	uc001smz.2	+	6	1682	c.1304C>T	c.(1303-1305)CCG>CTG	p.P435L		NM_005967	NP_005958	Q15742	NAB2_HUMAN	NGFI-A binding protein 2	435					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			upper_aerodigestive_tract(1)|ovary(1)	2						AGGCTGACGCCGCCCCCTGCT	0.657													T	57487217	C	T	57487217	3	4	26	1	0	0	0	0	1	0	0	0	10132	652	23	1	1326	1	NAB2	12	57487217	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	642038	57487217	76364678	112	23881											
NUP107	57122	broad.mit.edu	37	chr12	69128509	69128509	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagcccatgaaacctttaatGagtggtttaagcatatgaat	8	6	0	3			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr12:69128509G>A	uc001suf.2	+	25	2399	c.2284G>A	c.(2284-2286)GAG>AAG	p.E762K	NUP107_uc001sug.2_Missense_Mutation_p.E521K|NUP107_uc010stj.1_Missense_Mutation_p.E733K	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	762					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AACCTTTAATGAGTGGTTTAA	0.299													A	69128509	G	A	69128509	3	1	26	1	0	0	0	0	1	0	0	0	10753	1291	45	4	2382	4	NUP107	12	69128509	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	11641292	69128509	64723386	113	23882											
BEST3	144453	broad.mit.edu	37	chr12	70071027	70071027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctgcaccaagagcggtatCgattcatttcctaagccaga	10	11	1	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr12:70071027C>T	uc001svg.2	-	6	874	c.647G>A	c.(646-648)CGA>CAA	p.R216Q	BEST3_uc001svd.1_Missense_Mutation_p.R216Q|BEST3_uc001sve.1_RNA|BEST3_uc001svf.2_Missense_Mutation_p.R54Q|BEST3_uc010stm.1_Missense_Mutation_p.R110Q|BEST3_uc001svh.2_Missense_Mutation_p.R54Q	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	216	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGAGCGGTATCGATTCATTTC	0.413													T	70071027	C	T	70071027	3	4	26	1	0	0	0	0	1	0	0	0	1406	884	31	1	1379	1	BEST3	12	70071027	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	942518	70071027	63780868	114	23883											
TRHDE	29953	broad.mit.edu	37	chr12	72667143	72667143	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagaaagtgcagctggcCgaggaccgggcgttcggggc	20	9	0	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr12:72667143C>T	uc001sxa.2	+	1	615	c.585C>T	c.(583-585)GCC>GCT	p.A195A	LOC283392_uc010stv.1_5'UTR	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	195	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						TGCAGCTGGCCGAGGACCGGG	0.632													T	72667143	C	T	72667143	2	4	26	1	0	0	0	0	0	0	0	1	16476	639	23	1		1	TRHDE	12	72667143	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	2596116	72667143	61184752	115	23884											
TBX5	6910	broad.mit.edu	37	chr12	114837435	114837435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtaactgggaaacatcCgcctaagagagagggacgga	13	8	0	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr12:114837435C>T	uc001tvo.2	-	4	740	c.245G>A	c.(244-246)CGG>CAG	p.R82Q	TBX5_uc001tvp.2_Missense_Mutation_p.R82Q|TBX5_uc001tvq.2_Missense_Mutation_p.R32Q|TBX5_uc010syv.1_Missense_Mutation_p.R82Q	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	82	T-box.				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGGAAACATCCGCCTAAGAGA	0.478													T	114837435	C	T	114837435	3	4	26	1	0	0	0	0	1	0	0	0	15658	652	23	1	1402	1	TBX5	12	114837435	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	42170292	114837435	19014460	116	23885											
DNAH10	196385	broad.mit.edu	37	chr12	124382427	124382427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttctacagaaattgaggCgcagcaactatgtcactccc	8	11	2	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr12:124382427C>T	uc001uft.3	+	54	9062	c.9037C>T	c.(9037-9039)CGC>TGC	p.R3013C		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3013	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAATTGAGGCGCAGCAACTA	0.413													T	124382427	C	T	124382427	3	4	26	1	0	0	0	0	1	0	0	0	4598	768	27	1	9251	1	DNAH10	12	124382427	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	9544992	124382427	9469468	117	23886											
TPTE2	93492	broad.mit.edu	37	chr13	19997247	19997247	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcaaattctggtggataAattttccatgctttttgttt	7	6	1	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr13:19997247A>C	uc001umd.2	-	21	1735	c.1524T>G	c.(1522-1524)ATT>ATG	p.I508M	TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.I397M|TPTE2_uc001ume.2_Missense_Mutation_p.I431M|TPTE2_uc009zzm.2_Missense_Mutation_p.I179M|TPTE2_uc010tcm.1_RNA|TPTE2_uc010tcl.1_Missense_Mutation_p.I179M	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	508	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CTGGTGGATAAATTTTCCATG	0.368													C	19997247	A	C	19997247	3	2	26	1	0	0	0	0	1	0	0	0	16428	10	1	5	48	5	TPTE2	13	19997247	Missense_Mutation	SNP	A	TCGA-BR-4371-01A-01D-1158-08		19997247	95172631	118	23887											
FREM2	341640	broad.mit.edu	37	chr13	39262883	39262883	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcagtggtccgcaaaacTtggtcatcagcgatgaggat	13	9	2	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr13:39262883T>G	uc001uwv.2	+	1	1711	c.1402T>G	c.(1402-1404)TTG>GTG	p.L468V		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	468	Extracellular (Potential).|CSPG 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCCGCAAAACTTGGTCATCAG	0.587													G	39262883	T	G	39262883	3	3	26	1	0	0	0	0	1	0	0	0	6045	1606	56	5	1404	5	FREM2	13	39262883	Missense_Mutation	SNP	T	TCGA-BR-4371-01A-01D-1158-08	19265636	39262883	75906995	119	23888											
SLITRK6	84189	broad.mit.edu	37	chr13	86369596	86369596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgataagctttcaatgttgcGctcctgacaatgtattagaa	8	7	1	3			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr13:86369596G>A	uc001vll.1	-	2	1507	c.1048C>T	c.(1048-1050)CGC>TGC	p.R350C	SLITRK6_uc010afe.1_Missense_Mutation_p.R115C	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	350	Extracellular (Potential).|LRRNT 2.					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCAATGTTGCGCTCCTGACAA	0.418													A	86369596	G	A	86369596	3	1	26	1	0	0	0	0	1	0	0	0	14747	1087	38	1	1481	1	SLITRK6	13	86369596	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	47106713	86369596	28800282	120	23889											
GPC5	2262	broad.mit.edu	37	chr13	92797214	92797214	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggggatcaggaagtggagaAgtcaagaggacactgaagat	17	4	2	4			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr13:92797214A>C	uc010tif.1	+	7	1899	c.1533A>C	c.(1531-1533)GAA>GAC	p.E511D		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	511						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GAAGTGGAGAAGTCAAGAGGA	0.413													C	92797214	A	C	92797214	3	2	26	1	0	0	0	0	1	0	0	0	6601	69	3	5	1559	5	GPC5	13	92797214	Missense_Mutation	SNP	A	TCGA-BR-4371-01A-01D-1158-08	6427618	92797214	22372664	121	23890											
OR4M1	441670	broad.mit.edu	37	chr14	20249146	20249146	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcctatgccttccttcTggccttgctcaagaaacatt	6	12	2	1	rs148618328		TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr14:20249146T>C	uc010tku.1	+	1	665	c.665T>C	c.(664-666)CTG>CCG	p.L222P		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	222	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCTTCCTTCTGGCCTTGCTC	0.478													C	20249146	T	C	20249146	3	2	26	1	0	0	0	0	1	0	0	0	11075	1580	55	3	667	3	OR4M1	14	20249146	Missense_Mutation	SNP	T	TCGA-BR-4371-01A-01D-1158-08		20249146	87100394	122	23891											
SLC22A17	51310	broad.mit.edu	37	chr14	23818627	23818627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcagcacaatcccgcgaCggccaaatctagaaagtggg	11	12	2	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr14:23818627C>T	uc001wjl.2	-	3	436	c.380G>A	c.(379-381)CGT>CAT	p.R127H	SLC22A17_uc010akk.2_5'UTR|SLC22A17_uc001wjn.2_RNA|SLC22A17_uc001wjm.2_Missense_Mutation_p.R127H|SLC22A17_uc010akl.1_Missense_Mutation_p.R127H	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17 isoform a	127					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity				0	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AATCCCGCGACGGCCAAATCT	0.612													T	23818627	C	T	23818627	3	4	26	1	0	0	0	0	1	0	0	0	14448	536	19	1	1264	1	SLC22A17	14	23818627	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	3569481	23818627	83530913	123	23892											
JPH4	84502	broad.mit.edu	37	chr14	24040633	24040633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctcatccaggggctccGtgtcggaaccttctgagtcc	11	14	2	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr14:24040633G>A	uc001wkq.2	-	6	2225	c.1307C>T	c.(1306-1308)ACG>ATG	p.T436M	JPH4_uc010tnr.1_Missense_Mutation_p.T101M|JPH4_uc001wkr.2_Missense_Mutation_p.T436M	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	junctophilin 4	436	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				ovary(1)|pancreas(1)	2	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CAGGGGCTCCGTGTCGGAACC	0.627													A	24040633	G	A	24040633	3	1	26	1	0	0	0	0	1	0	0	0	7963	1145	40	1	587	1	JPH4	14	24040633	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	222006	24040633	83308907	124	23893											
NKX2-1	7080	broad.mit.edu	37	chr14	36987176	36987176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccccagcgagcccaggccGcccatgccgctcatgttcat	9	19	2	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr14:36987176G>A	uc001wtt.2	-	2	764	c.423C>T	c.(421-423)GGC>GGT	p.G141G	SFTA3_uc001wts.2_Intron|NKX2-1_uc001wtu.2_Silent_p.G171G|NKX2-1_uc001wtv.2_Silent_p.G141G|uc001wtw.1_5'Flank	NM_003317	NP_003308	P43699	NKX21_HUMAN	thyroid transcription factor 1 isoform 2	141					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			skin(1)	1	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		AGCCCAGGCCGCCCATGCCGC	0.706			A		NSCLC								A	36987176	G	A	36987176	2	1	26	1	0	0	0	0	0	0	0	1	10449	1074	38	1		1	NKX2-1	14	36987176	Silent	SNP	G	TCGA-BR-4371-01A-01D-1158-08	12946543	36987176	70362364	125	23894											
PTGER2	5732	broad.mit.edu	37	chr14	52781961	52781961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccgccgaagccggagaaGccgctgcggaccttccctgg	14	16	0	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr14:52781961G>A	uc001wzr.2	+	1	946	c.695G>A	c.(694-696)AGC>AAC	p.S232N		NM_000956	NP_000947	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	232	Cytoplasmic (Potential).					integral to plasma membrane	prostaglandin E receptor activity			lung(1)|breast(1)	2	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	AGCCGGAGAAGCCGCTGCGGA	0.537													A	52781961	G	A	52781961	3	1	26	1	0	0	0	0	1	0	0	0	12743	971	34	2	697	2	PTGER2	14	52781961	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	15794785	52781961	54567579	126	23895											
TIMM9	26520	broad.mit.edu	37	chr14	58875881	58875881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaagcaatgttctgaacaGgtggtctaggaatgaaaagg	13	4	2	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr14:58875881G>A	uc010aph.2	-	4	356	c.141C>T	c.(139-141)ACC>ACT	p.T47T	TIMM9_uc001xds.2_Silent_p.T47T|TIMM9_uc010api.2_Silent_p.T47T	NM_012460	NP_036592	Q9Y5J7	TIM9_HUMAN	translocase of inner mitochondrial membrane 9	47	Twin CX3C motif.				protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	zinc ion binding				0						GTTCTGAACAGGTGGTCTAGG	0.348													A	58875881	G	A	58875881	2	1	26	1	0	0	0	0	0	0	0	1	15913	987	35	4		4	TIMM9	14	58875881	Silent	SNP	G	TCGA-BR-4371-01A-01D-1158-08	6093920	58875881	48473659	127	23896											
PPP4R4	57718	broad.mit.edu	37	chr14	94674856	94674856	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaatctcccatttttgatgCgacagaatcccactgagacg	7	12	1	3			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr14:94674856C>T	uc001ycs.1	+	3	401	c.247C>T	c.(247-249)CGA>TGA	p.R83*	PPP4R4_uc001ycr.2_Nonsense_Mutation_p.R83*	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	83						cytoplasm|protein serine/threonine phosphatase complex	protein binding			skin(3)|upper_aerodigestive_tract(1)	4						ATTTTTGATGCGACAGAATCC	0.373													T	94674856	C	T	94674856	4	4	26	1	0	0	0	0	0	1	0	0	12405	760	27	1	257	1	PPP4R4	14	94674856	Nonsense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	35798975	94674856	12674684	128	23897											
OR4M2	390538	broad.mit.edu	37	chr15	22368885	22368885	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcattgcacagctcttcttcTtacactttgctggggcttcg	9	12	3	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr15:22368885T>G	uc010tzu.1	+	1	310	c.310T>G	c.(310-312)TTA>GTA	p.L104V	LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	104	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GCTCTTCTTCTTACACTTTGC	0.453													G	22368885	T	G	22368885	3	3	26	1	0	0	0	0	1	0	0	0	11076	1606	56	5	312	5	OR4M2	15	22368885	Missense_Mutation	SNP	T	TCGA-BR-4371-01A-01D-1158-08		22368885	80162507	129	23898											
MKRN3	7681	broad.mit.edu	37	chr15	23812297	23812297	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgaatgggagagggcaacatGctctataaaagcattaagaa	11	6	1	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr15:23812297G>T	uc001ywh.3	+	1	1844	c.1368G>T	c.(1366-1368)ATG>ATT	p.M456I	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Intron	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	456						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGGGCAACATGCTCTATAAAA	0.532													T	23812297	G	T	23812297	3	4	26	1	0	0	0	0	1	0	0	0	9608	1319	46	5	1370	5	MKRN3	15	23812297	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	1443412	23812297	78719095	130	23899											
APBA2	321	broad.mit.edu	37	chr15	29346159	29346159	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaccaggtcctgtcccTcacagccaggagcccgagag	13	14	1	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr15:29346159T>A	uc001zck.2	+	3	279	c.72T>A	c.(70-72)CCT>CCA	p.P24P	APBA2_uc010azj.2_Silent_p.P24P|APBA2_uc010uat.1_Silent_p.P24P|APBA2_uc001zcl.2_Silent_p.P24P|APBA2_uc010uas.1_Silent_p.P24P	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	24					nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GTCCTGTCCCTCACAGCCAGG	0.667													A	29346159	T	A	29346159	2	1	26	1	0	0	0	0	0	0	0	1	757	1538	54	5		5	APBA2	15	29346159	Silent	SNP	T	TCGA-BR-4371-01A-01D-1158-08	5533862	29346159	73185233	131	23900											
RYR3	6263	broad.mit.edu	37	chr15	33936554	33936554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtctatctcagatcggccGcatgaatctcgggacagatg	13	10	3	3			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr15:33936554G>A	uc001zhi.2	+	28	3669	c.3599G>A	c.(3598-3600)CGC>CAC	p.R1200H	RYR3_uc010bar.2_Missense_Mutation_p.R1200H	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1200	B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGATCGGCCGCATGAATCTC	0.517													A	33936554	G	A	33936554	3	1	26	1	0	0	0	0	1	0	0	0	13770	1087	38	1	3709	1	RYR3	15	33936554	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	4590395	33936554	68594838	132	23901											
UNC13C	440279	broad.mit.edu	37	chr15	54592538	54592538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgatgaatttgctatgcGttatggaattgaatccattt	9	4	0	3			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr15:54592538G>A	uc002ack.2	+	11	4235	c.4235G>A	c.(4234-4236)CGT>CAT	p.R1412H	UNC13C_uc002acl.2_Missense_Mutation_p.R242H	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1412					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTGCTATGCGTTATGGAATT	0.358													A	54592538	G	A	54592538	3	1	26	1	0	0	0	0	1	0	0	0	16983	1145	40	1	4277	1	UNC13C	15	54592538	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	20655984	54592538	47938854	133	23902											
FOXB1	27023	broad.mit.edu	37	chr15	60297453	60297453	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaagctgcggggacatgttCgagaacggcagcttcctgcg	14	12	0	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr15:60297453C>T	uc002agj.1	+	2	770	c.291C>T	c.(289-291)TTC>TTT	p.F97F	FOXB1_uc010bgh.1_Intron	NM_012182	NP_036314	Q99853	FOXB1_HUMAN	forkhead box B1	97	Fork-head.				axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)|central_nervous_system(1)	2						GGGACATGTTCGAGAACGGCA	0.662													T	60297453	C	T	60297453	2	4	26	1	0	0	0	0	0	0	0	1	5992	883	31	1		1	FOXB1	15	60297453	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	5704915	60297453	42233939	134	23903											
ARID3B	10620	broad.mit.edu	37	chr15	74836809	74836809	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggacagccgaactggaatCtggatgagcagctcaagcag	13	10	2	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr15:74836809C>T	uc002aye.2	+	2	733	c.532C>T	c.(532-534)CTG>TTG	p.L178L	ARID3B_uc002ayc.2_Silent_p.L178L|ARID3B_uc002ayd.2_Silent_p.L178L	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						GAACTGGAATCTGGATGAGCA	0.532													T	74836809	C	T	74836809	2	4	26	1	0	0	0	0	0	0	0	1	917	912	32	4		4	ARID3B	15	74836809	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	14539356	74836809	27694583	135	23904											
FSD2	123722	broad.mit.edu	37	chr15	83440851	83440851	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtccgtcccaggtgagctgTcctgcactggccggtaggac	15	13	0	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr15:83440851T>G	uc002bjd.2	-	7	1408	c.1241A>C	c.(1240-1242)GAC>GCC	p.D414A	FSD2_uc010uol.1_Missense_Mutation_p.D414A|FSD2_uc010uom.1_Missense_Mutation_p.D414A	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing	414	Fibronectin type-III 1.									central_nervous_system(1)	1						AGGTGAGCTGTCCTGCACTGG	0.612													G	83440851	T	G	83440851	3	3	26	1	0	0	0	0	1	0	0	0	6071	1667	58	5	1036	5	FSD2	15	83440851	Missense_Mutation	SNP	T	TCGA-BR-4371-01A-01D-1158-08	8604042	83440851	19090541	136	23905											
BTBD1	53339	broad.mit.edu	37	chr15	83735774	83735774	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcctgccagttgtagagagGttcccgctgcagggggagca	16	11	0	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr15:83735774G>C	uc002bjn.2	-	1	333	c.130C>G	c.(130-132)CCT>GCT	p.P44A	BTBD1_uc002bjo.2_Missense_Mutation_p.P44A	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1 isoform 1	44						cytoplasmic mRNA processing body|protein complex	protein binding			ovary(1)|central_nervous_system(1)	2				all cancers(203;0.000186)		TTGTAGAGAGGTTCCCGCTGC	0.557													C	83735774	G	C	83735774	3	2	26	1	0	0	0	0	1	0	0	0	1537	1261	44	5	1350	5	BTBD1	15	83735774	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	294923	83735774	18795618	137	23906											
ADAMTS17	170691	broad.mit.edu	37	chr15	100692874	100692874	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatctggcactgctcgttGgcactgtagtgcatgcccgg	14	11	1	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr15:100692874G>A	uc002bvv.1	-	10	1495	c.1416C>T	c.(1414-1416)GCC>GCT	p.A472A	ADAMTS17_uc002bvx.1_Silent_p.A229A	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	472	Disintegrin.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ACTGCTCGTTGGCACTGTAGT	0.582													A	100692874	G	A	100692874	2	1	26	1	0	0	0	0	0	0	0	1	262	1335	47	4		4	ADAMTS17	15	100692874	Silent	SNP	G	TCGA-BR-4371-01A-01D-1158-08	16957100	100692874	1838518	138	23907											
DNAH9	1770	broad.mit.edu	37	chr17	11687773	11687773	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctggccctcgccttccacCagaaaattgctaccaccttc	5	17	1	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr17:11687773C>T	uc002gne.2	+	41	8046	c.7978C>T	c.(7978-7980)CAG>TAG	p.Q2660*	DNAH9_uc010coo.2_Nonsense_Mutation_p.Q1954*	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2660	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGCCTTCCACCAGAAAATTGC	0.512													T	11687773	C	T	11687773	4	4	26	1	0	0	0	0	0	1	0	0	4608	595	21	4	8140	4	DNAH9	17	11687773	Nonsense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08		11687773	69507437	139	23908											
TOM1L2	146691	broad.mit.edu	37	chr17	17797056	17797056	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attttgaccagaacactgtcGatgaaatctcggttggccac	9	10	1	3			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr17:17797056G>A	uc002grz.3	-	4	442	c.285C>T	c.(283-285)ATC>ATT	p.I95I	TOM1L2_uc002gry.3_Intron|TOM1L2_uc010vwy.1_Silent_p.I95I|TOM1L2_uc010cpr.2_Silent_p.I95I|TOM1L2_uc010vwz.1_Intron|TOM1L2_uc010vxa.1_Silent_p.I95I|TOM1L2_uc010vxb.1_Intron	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 isoform 3	95	VHS.				intracellular protein transport	intracellular					0	all_neural(463;0.228)					GAACACTGTCGATGAAATCTC	0.522													A	17797056	G	A	17797056	2	1	26	1	0	0	0	0	0	0	0	1	16350	1048	37	1		1	TOM1L2	17	17797056	Silent	SNP	G	TCGA-BR-4371-01A-01D-1158-08	6109283	17797056	63398154	140	23909											
NF1	4763	broad.mit.edu	37	chr17	29533378	29533378	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagcacacccagcaataCgaatggcaccggtaagataa	11	10	0	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr17:29533378C>T	uc002hgg.2	+	12	1714	c.1381C>T	c.(1381-1383)CGA>TGA	p.R461*	NF1_uc002hge.1_Nonsense_Mutation_p.R461*|NF1_uc002hgf.1_Nonsense_Mutation_p.R461*|NF1_uc002hgh.2_Nonsense_Mutation_p.R461*|NF1_uc010csn.1_Nonsense_Mutation_p.R321*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	461					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.R461*(2)|p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCCAGCAATACGAATGGCACC	0.383			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29533378	C	T	29533378	4	4	26	1	0	0	0	0	0	1	0	0	10356	528	19	1	1427	1	NF1	17	29533378	Nonsense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	11736322	29533378	51661832	141	23910											
NF1	4763	broad.mit.edu	37	chr17	29685544	29685544	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccctgttatcattgtgcCaagatccaaatttgttaaat	5	9	1	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr17:29685544C>T	uc002hgg.2	+	55	8350	c.8017C>T	c.(8017-8019)CAA>TAA	p.Q2673*	NF1_uc002hgh.2_Nonsense_Mutation_p.Q2652*|NF1_uc010cso.2_Nonsense_Mutation_p.Q861*|NF1_uc010wbt.1_Nonsense_Mutation_p.Q151*|NF1_uc010wbu.1_RNA	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2673					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATCATTGTGCCAAGATCCAAA	0.353			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29685544	C	T	29685544	4	4	26	1	0	0	0	0	0	1	0	0	10356	595	21	4	8296	4	NF1	17	29685544	Nonsense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	152166	29685544	51509666	142	23911											
GGNBP2	79893	broad.mit.edu	37	chr17	34923606	34923606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacactagaaacatatctgcGaaaacacaggtaagtctgat	7	8	2	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr17:34923606G>A	uc002hnb.2	+	6	881	c.632G>A	c.(631-633)CGA>CAA	p.R211Q	GGNBP2_uc002hna.2_Missense_Mutation_p.R211Q	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	211					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ACATATCTGCGAAAACACAGG	0.408													A	34923606	G	A	34923606	3	1	26	1	0	0	0	0	1	0	0	0	6359	1058	37	1	650	1	GGNBP2	17	34923606	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	5238062	34923606	46271604	143	23912											
MRM1	79922	broad.mit.edu	37	chr17	34964453	34964453	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacgtctctgtggctgcAggtgagtctactcccctttc	10	12	2	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr17:34964453A>G	uc002hne.2	+	4	1103	c.888A>G	c.(886-888)GCA>GCG	p.A296A	MRM1_uc002hnf.2_Silent_p.A101A	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog	296					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CTGTGGCTGCAGGTGAGTCTA	0.572													G	34964453	A	G	34964453	2	3	26	1	0	0	0	0	0	0	0	1	9771	202	7	3		3	MRM1	17	34964453	Silent	SNP	A	TCGA-BR-4371-01A-01D-1158-08	40847	34964453	46230757	144	23913											
ICAM2	3384	broad.mit.edu	37	chr17	62081258	62081258	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtgggcaccctgcactcaAtggtgaaggacttgcccaca	12	13	1	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr17:62081258A>G	uc002jdu.3	-	3	627	c.395T>C	c.(394-396)ATT>ACT	p.I132T	C17orf72_uc002jdt.3_3'UTR|C17orf72_uc010wpu.1_3'UTR|C17orf72_uc010wpv.1_3'UTR|C17orf72_uc010wpw.1_3'UTR|ICAM2_uc002jdw.3_Missense_Mutation_p.I132T|ICAM2_uc010ded.2_Missense_Mutation_p.I132T|ICAM2_uc002jdx.3_Missense_Mutation_p.I132T|ICAM2_uc002jdv.3_Missense_Mutation_p.I132T	NM_000873	NP_000864	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2 precursor	132	Ig-like C2-type 2.|Extracellular (Potential).				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			ovary(1)	1						CCTGCACTCAATGGTGAAGGA	0.602													G	62081258	A	G	62081258	3	3	26	1	0	0	0	0	1	0	0	0	7480	101	4	3	440	3	ICAM2	17	62081258	Missense_Mutation	SNP	A	TCGA-BR-4371-01A-01D-1158-08	27116805	62081258	19113952	145	23914											
SEC14L1	6397	broad.mit.edu	37	chr17	75209494	75209494	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccttccccgggtggacgaCgtgcttgcgtccctgcaggt	14	14	0	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr17:75209494C>T	uc002jto.2	+	16	2229	c.1962C>T	c.(1960-1962)GAC>GAT	p.D654D	SEC14L1_uc010dhc.2_Silent_p.D654D|SEC14L1_uc010wth.1_Silent_p.D654D|SEC14L1_uc002jtm.2_Silent_p.D654D|SEC14L1_uc010wti.1_Silent_p.D620D|SEC14L1_uc010wtj.1_Missense_Mutation_p.R143C|SEC14L1_uc002jtr.2_Silent_p.D48D	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	654	GOLD.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						GGGTGGACGACGTGCTTGCGT	0.612													T	75209494	C	T	75209494	2	4	26	1	0	0	0	0	0	0	0	1	13981	535	19	1		1	SEC14L1	17	75209494	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	13128236	75209494	5985716	146	23915											
SLC14A2	8170	broad.mit.edu	37	chr18	43204733	43204733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctggccctcgacatcccCggatactcacccagctctgc	9	18	2	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr18:43204733C>T	uc010dnj.2	+	3	425	c.104C>T	c.(103-105)CCG>CTG	p.P35L	SLC14A2_uc002lbb.2_Missense_Mutation_p.P35L|SLC14A2_uc002lbe.2_Missense_Mutation_p.P35L	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	35						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						TCGACATCCCCGGATACTCAC	0.572													T	43204733	C	T	43204733	3	4	26	1	0	0	0	0	1	0	0	0	14397	652	23	1	106	1	SLC14A2	18	43204733	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08		43204733	34872515	147	23916											
SMAD2	4087	broad.mit.edu	37	chr18	45368211	45368211	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgaagctttatgacatgcttGagcaacgcactgaaggggat	12	7	0	4			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr18:45368211G>C	uc002lcy.2	-	11	1639	c.1391C>G	c.(1390-1392)TCA>TGA	p.S464*	SMAD2_uc002lcz.2_Nonsense_Mutation_p.S464*|SMAD2_uc010xdc.1_Nonsense_Mutation_p.S434*	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Sma- and Mad-related protein 2 isoform 1	464	MH2.			S->A: Loss of phosphorylation by TGFBR1; when associated with A-465 and A-467.	anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	p.R462fs*>4(1)		large_intestine(3)|lung(1)|central_nervous_system(1)	5						TGACATGCTTGAGCAACGCAC	0.423													C	45368211	G	C	45368211	4	2	26	1	0	0	0	0	0	1	0	0	14758	1294	45	5	16	5	SMAD2	18	45368211	Nonsense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	2163478	45368211	32709037	148	23917											
SERPINB12	89777	broad.mit.edu	37	chr18	61232706	61232706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagagtgtgaagatgatgaCgcaaaaaggcctctacagaa	11	7	1	6			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr18:61232706C>T	uc010xen.1	+	6	674	c.674C>T	c.(673-675)ACG>ATG	p.T225M	SERPINB12_uc010xeo.1_Missense_Mutation_p.T245M	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	225					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity				0						AAGATGATGACGCAAAAAGGC	0.488													T	61232706	C	T	61232706	3	4	26	1	0	0	0	0	1	0	0	0	14099	536	19	1	696	1	SERPINB12	18	61232706	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	15864495	61232706	16844542	149	23918											
AZU1	566	broad.mit.edu	37	chr19	829667	829667	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatgagcgagaatggctaCgacccccagcagaacctgaa	11	12	0	4			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr19:829667C>T	uc002lpz.1	+	3	337	c.321C>T	c.(319-321)TAC>TAT	p.Y107Y		NM_001700	NP_001691	P20160	CAP7_HUMAN	azurocidin 1 preproprotein	107	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			pancreas(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAATGGCTACGACCCCCAGC	0.622													T	829667	C	T	829667	2	4	26	1	0	0	0	0	0	0	0	1	1243	547	19	1		1	AZU1	19	829667	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08		829667	58299316	150	23919											
ZBTB7A	51341	broad.mit.edu	37	chr19	4048234	4048234	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgcatgtgcaccttcagcTtgtcctgcctgtggacgggg	13	13	1	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr19:4048234T>G	uc002lzh.2	-	3	1346	c.1271A>C	c.(1270-1272)AAG>ACG	p.K424T	ZBTB7A_uc002lzi.2_Missense_Mutation_p.K424T	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	424	C2H2-type 2.				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			pancreas(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCTTCAGCTTGTCCTGCCT	0.687													G	4048234	T	G	4048234	3	3	26	1	0	0	0	0	1	0	0	0	17550	1609	56	5	487	5	ZBTB7A	19	4048234	Missense_Mutation	SNP	T	TCGA-BR-4371-01A-01D-1158-08	3218567	4048234	55080749	151	23920											
ADAMTS10	81794	broad.mit.edu	37	chr19	8654436	8654436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagaagttgaagccttccGctaggcacgtgagcgagcag	14	9	0	3			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr19:8654436G>A	uc002mkj.1	-	17	2208	c.1934C>T	c.(1933-1935)GCG>GTG	p.A645V	ADAMTS10_uc002mki.1_Missense_Mutation_p.A132V|ADAMTS10_uc002mkk.1_Missense_Mutation_p.A277V	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	645	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						GAAGCCTTCCGCTAGGCACGT	0.672													A	8654436	G	A	8654436	3	1	26	1	0	0	0	0	1	0	0	0	256	1087	38	1	1417	1	ADAMTS10	19	8654436	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	4606202	8654436	50474547	152	23921											
MUC16	94025	broad.mit.edu	37	chr19	9068980	9068980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggacctgtttgtgtggCgatggtcttgtgtgtagata	15	4	1	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr19:9068980C>T	uc002mkp.2	-	3	18670	c.18466G>A	c.(18466-18468)GCC>ACC	p.A6156T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6158	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTTTGTGTGGCGATGGTCTTG	0.507													T	9068980	C	T	9068980	3	4	26	1	0	0	0	0	1	0	0	0	9973	768	27	1	25385	1	MUC16	19	9068980	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	414544	9068980	50060003	153	23922											
ZNF317	57693	broad.mit.edu	37	chr19	9272049	9272049	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcatccctcaggagccaCgtgaaaactcaccggggaga	10	14	3	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr19:9272049C>T	uc002mku.2	+	7	2003	c.1728C>T	c.(1726-1728)CAC>CAT	p.H576H	ZNF317_uc002mkv.2_Silent_p.H435H|ZNF317_uc002mkw.2_Silent_p.H544H|ZNF317_uc002mkx.2_Silent_p.H491H|ZNF317_uc002mky.2_Silent_p.H459H	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	576	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCAGGAGCCACGTGAAAACTC	0.567													T	9272049	C	T	9272049	2	4	26	1	0	0	0	0	0	0	0	1	17832	535	19	1		1	ZNF317	19	9272049	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	203069	9272049	49856934	154	23923											
EIF3G	8666	broad.mit.edu	37	chr19	10226419	10226419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggagatggagccgaaagGccggaagagctcctgcaggt	18	9	0	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr19:10226419G>A	uc002mnd.2	-	9	845	c.781C>T	c.(781-783)CCT>TCT	p.P261S		NM_003755	NP_003746	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3,	261	RRM.					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			GAGCCGAAAGGCCGGAAGAGC	0.632													A	10226419	G	A	10226419	3	1	26	1	0	0	0	0	1	0	0	0	5017	1203	42	2	193	2	EIF3G	19	10226419	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	954370	10226419	48902564	155	23924											
CACNA1A	773	broad.mit.edu	37	chr19	13323247	13323247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtaggggggccttgttccGgactccatgtgcccgtcttc	14	13	1	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr19:13323247G>A	uc010dze.2	-	42	6379	c.6143C>T	c.(6142-6144)CCG>CTG	p.P2048L	CACNA1A_uc010xnd.1_Missense_Mutation_p.P753L|CACNA1A_uc002mwx.3_Missense_Mutation_p.P753L|CACNA1A_uc010dzc.2_Missense_Mutation_p.P1573L|CACNA1A_uc002mwy.3_Missense_Mutation_p.P2047L|CACNA1A_uc002mwv.3_Missense_Mutation_p.P564L	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	2048	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCCTTGTTCCGGACTCCATGT	0.647													A	13323247	G	A	13323247	3	1	26	1	0	0	0	0	1	0	0	0	2538	1116	39	1	1404	1	CACNA1A	19	13323247	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	3096828	13323247	45805736	156	23925											
HIPK4	147746	broad.mit.edu	37	chr19	40890034	40890034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaaaatgctggcggatcCgaagtcaatcacctgtcggg	13	10	2	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr19:40890034C>T	uc002onp.2	-	2	763	c.478G>A	c.(478-480)GGA>AGA	p.G160R		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	160	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTGGCGGATCCGAAGTCAATC	0.637													T	40890034	C	T	40890034	3	4	26	1	0	0	0	0	1	0	0	0	7119	661	23	1	1384	1	HIPK4	19	40890034	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	27566787	40890034	18238949	157	23926											
GPR4	2828	broad.mit.edu	37	chr19	46095082	46095082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcggaaagaggtggtccaCgcgcgagtccacgtggcagc	17	11	0	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr19:46095082C>T	uc002pcm.2	-	2	988	c.43G>A	c.(43-45)GTG>ATG	p.V15M	OPA3_uc010xxk.1_Intron	NM_005282	NP_005273	P46093	GPR4_HUMAN	G protein-coupled receptor 4	15	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		AGGTGGTCCACGCGCGAGTCC	0.677													T	46095082	C	T	46095082	3	4	26	1	0	0	0	0	1	0	0	0	6694	536	19	1	1049	1	GPR4	19	46095082	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	5205048	46095082	13033901	158	23927											
SLC17A7	57030	broad.mit.edu	37	chr19	49939974	49939974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgcagtccaccaccggCgggtcccgggtctgcgtggt	16	14	1	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr19:49939974C>T	uc002pnp.2	-	2	319	c.147G>A	c.(145-147)CCG>CCA	p.P49P	SLC17A7_uc002pnq.1_5'UTR	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	49	Cytoplasmic (Potential).				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			ovary(1)|pancreas(1)|skin(1)	3		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CCACCACCGGCGGGTCCCGGG	0.657													T	49939974	C	T	49939974	2	4	26	1	0	0	0	0	0	0	0	1	14422	755	27	1		1	SLC17A7	19	49939974	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	3844892	49939974	9189009	159	23928											
SIGLEC5	8778	broad.mit.edu	37	chr19	52115642	52115642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggagatgcttgatctcCggggctgtctggccagggct	17	9	2	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr19:52115642C>T	uc002pxe.2	-	9	1637	c.1498G>A	c.(1498-1500)GGA>AGA	p.G500R		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	500	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GCTTGATCTCCGGGGCTGTCT	0.498													T	52115642	C	T	52115642	3	4	26	1	0	0	0	0	1	0	0	0	14311	661	23	1	161	1	SIGLEC5	19	52115642	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	2175668	52115642	7013341	160	23929											
LILRA2	11027	broad.mit.edu	37	chr19	55098716	55098716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtggagaatctcatccGcatgggtgtggctggcttgg	15	9	1	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr19:55098716G>A	uc002qgg.3	+	8	1444	c.1355G>A	c.(1354-1356)CGC>CAC	p.R452H	LILRA2_uc010ern.2_3'UTR|LILRA2_uc002qgf.2_Missense_Mutation_p.R435H|LILRA2_uc010ero.2_Missense_Mutation_p.R423H|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	452	Helical; (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		AATCTCATCCGCATGGGTGTG	0.577													A	55098716	G	A	55098716	3	1	26	1	0	0	0	0	1	0	0	0	8785	1087	38	1	1385	1	LILRA2	19	55098716	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	2983074	55098716	4030267	161	23930											
NLRP4	147945	broad.mit.edu	37	chr19	56369488	56369488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcggcttgaacgaaccCgattcggatctgtgtggtga	15	9	1	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr19:56369488C>T	uc002qmd.3	+	3	1151	c.729C>T	c.(727-729)CCC>CCT	p.P243P	NLRP4_uc002qmf.2_Silent_p.P168P|NLRP4_uc010etf.2_Silent_p.P74P	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	243	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGAACGAACCCGATTCGGATC	0.567													T	56369488	C	T	56369488	2	4	26	1	0	0	0	0	0	0	0	1	10479	639	23	1		1	NLRP4	19	56369488	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	1270772	56369488	2759495	162	23931											
C20orf72	92667	broad.mit.edu	37	chr20	17956474	17956474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaagatgtcagtggagtgcGagctcttgaaagtgctgttc	14	6	2	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr20:17956474G>A	uc002wqh.2	+	3	741	c.659G>A	c.(658-660)CGA>CAA	p.R220Q	C20orf72_uc010gco.2_Intron|C20orf72_uc010gcp.2_RNA	NM_052865	NP_443097	Q9BQP7	CT072_HUMAN	hypothetical protein LOC92667	220											0						AGTGGAGTGCGAGCTCTTGAA	0.408													A	17956474	G	A	17956474	3	1	26	1	0	0	0	0	1	0	0	0	2118	1058	37	1	665	1	C20orf72	20	17956474	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08		17956474	45069046	163	23932											
SAMHD1	25939	broad.mit.edu	37	chr20	35555600	35555600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataccgtccatttcacctcCgggcgagcaagtggaataaa	9	12	1	0	rs144587056		TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr20:35555600C>T	uc002xgh.1	-	6	811	c.681G>A	c.(679-681)CCG>CCA	p.P227P		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	227	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity				0		Myeloproliferative disorder(115;0.00878)				ATTTCACCTCCGGGCGAGCAA	0.358													T	35555600	C	T	35555600	2	4	26	1	0	0	0	0	0	0	0	1	13828	639	23	1		1	SAMHD1	20	35555600	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	17599126	35555600	27469920	164	23933											
KCNB1	3745	broad.mit.edu	37	chr20	47991216	47991216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggaagatctggaccacgCggcggacattctggaattgc	14	10	2	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr20:47991216C>T	uc002xur.1	-	2	1045	c.881G>A	c.(880-882)CGC>CAC	p.R294H	KCNB1_uc002xus.1_Missense_Mutation_p.R294H	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	294					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.R294R(1)		pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTGGACCACGCGGCGGACATT	0.537													T	47991216	C	T	47991216	3	4	26	1	0	0	0	0	1	0	0	0	8012	768	27	1	1699	1	KCNB1	20	47991216	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	12435616	47991216	15034304	165	23934											
SYCP2	10388	broad.mit.edu	37	chr20	58467645	58467645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattcaatgtgtctcctgaCgaagtacttgctctttggtt	9	8	3	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr20:58467645C>T	uc002yaz.2	-	22	2044	c.1905G>A	c.(1903-1905)TCG>TCA	p.S635S		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	635					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TGTCTCCTGACGAAGTACTTG	0.313													T	58467645	C	T	58467645	2	4	26	1	0	0	0	0	0	0	0	1	15429	523	19	1		1	SYCP2	20	58467645	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	10476429	58467645	4557875	166	23935											
LAMA5	3911	broad.mit.edu	37	chr20	60887486	60887486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtgcagccggcgctcacGcctgtcgtgttcagccgctt	14	15	2	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr20:60887486G>A	uc002ycq.2	-	68	9397	c.9330C>T	c.(9328-9330)GGC>GGT	p.G3110G		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3110	Laminin G-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGCGCTCACGCCTGTCGTGT	0.682													A	60887486	G	A	60887486	2	1	26	1	0	0	0	0	0	0	0	1	8609	1074	38	1		1	LAMA5	20	60887486	Silent	SNP	G	TCGA-BR-4371-01A-01D-1158-08	2419841	60887486	2138034	167	23936											
BIRC7	79444	broad.mit.edu	37	chr20	61870941	61870941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgtccgcagccgcgtgcGcaccttcctgtcctaggcca	10	20	0	0	rs142521563		TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr20:61870941G>A	uc002yej.2	+	6	1054	c.881G>A	c.(880-882)CGC>CAC	p.R294H	BIRC7_uc010gkc.1_3'UTR|BIRC7_uc002yei.2_Missense_Mutation_p.R276H	NM_139317	NP_647478	Q96CA5	BIRC7_HUMAN	livin inhibitor of apoptosis isoform alpha	294					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3	all_cancers(38;2.72e-09)					AGCCGCGTGCGCACCTTCCTG	0.721													A	61870941	G	A	61870941	3	1	26	1	0	0	0	0	1	0	0	0	1439	1087	38	1	903	1	BIRC7	20	61870941	Missense_Mutation	SNP	G	TCGA-BR-4371-01A-01D-1158-08	983455	61870941	1154579	168	23937											
PTK6	5753	broad.mit.edu	37	chr20	62164956	62164956	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtctttccagagcccctcGaagacctccccaaagtagcc	8	17	1	2	rs61736391		TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr20:62164956G>A	uc002yfg.2	-	4	658	c.618C>T	c.(616-618)TTC>TTT	p.F206F	PTK6_uc011aay.1_Silent_p.F105F|PTK6_uc011aaz.1_5'Flank	NM_005975	NP_005966	Q13882	PTK6_HUMAN	PTK6 protein tyrosine kinase 6	206	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(1)|kidney(1)	2	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			AGAGCCCCTCGAAGACCTCCC	0.647													A	62164956	G	A	62164956	2	1	26	1	0	0	0	0	0	0	0	1	12764	1049	37	1		1	PTK6	20	62164956	Silent	SNP	G	TCGA-BR-4371-01A-01D-1158-08	294015	62164956	860564	169	23938											
PRIC285	85441	broad.mit.edu	37	chr20	62193017	62193017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcttcctgctgcccacaCgcggcactgggaactcgctg	12	16	0	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr20:62193017C>T	uc002yfm.2	-	13	7665	c.6773G>A	c.(6772-6774)CGT>CAT	p.R2258H	PRIC285_uc002yfl.1_Missense_Mutation_p.R1689H	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	2258					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GCTGCCCACACGCGGCACTGG	0.657													T	62193017	C	T	62193017	3	4	26	1	0	0	0	0	1	0	0	0	12485	536	19	1	1208	1	PRIC285	20	62193017	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	28061	62193017	832503	170	23939											
MRPL39	54148	broad.mit.edu	37	chr21	26972169	26972169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacgtcataacagaaggcaCcagaaattactgtaaatcca	6	10	1	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr21:26972169C>T	uc002ylo.2	-	5	544	c.530G>A	c.(529-531)GGT>GAT	p.G177D	MRPL39_uc002yln.2_Missense_Mutation_p.G177D	NM_017446	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39 isoform a	177						mitochondrial ribosome	nucleotide binding				0						ACAGAAGGCACCAGAAATTAC	0.343													T	26972169	C	T	26972169	3	4	26	1	0	0	0	0	1	0	0	0	9802	507	18	4	603	4	MRPL39	21	26972169	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08		26972169	21157726	171	23940											
KRTAP11-1	337880	broad.mit.edu	37	chr21	32253626	32253626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggttggagacacatgaagttCgccggtaacaggttggctgg	16	7	0	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr21:32253626C>T	uc002yov.2	-	1	249	c.218G>A	c.(217-219)CGA>CAA	p.R73Q		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	73						keratin filament	structural molecule activity			pancreas(1)	1						ACATGAAGTTCGCCGGTAACA	0.552													T	32253626	C	T	32253626	3	4	26	1	0	0	0	0	1	0	0	0	8517	884	31	1	277	1	KRTAP11-1	21	32253626	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	5281457	32253626	15876269	172	23941											
BRWD1	54014	broad.mit.edu	37	chr21	40559053	40559053	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcagaatttatggttgtatCatcctctttataaacattca	4	7	4	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr21:40559053C>T	uc002yxk.1	-	42	7001	c.6862G>A	c.(6862-6864)GAT>AAT	p.D2288N	BRWD1_uc010goc.1_Missense_Mutation_p.D931N	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATGGTTGTATCATCCTCTTTA	0.348													T	40559053	C	T	40559053	3	4	26	1	0	0	0	0	1	0	0	0	1525	826	29	4	104	4	BRWD1	21	40559053	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	8305427	40559053	7570842	173	23942											
KRTAP10-8	386681	broad.mit.edu	37	chr21	46032554	46032554	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccatctgctgtgtgcctgtCtgctctggggcttcctctct	10	15	4	0			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr21:46032554C>T	uc002zfo.1	+	1	559	c.537C>T	c.(535-537)GTC>GTT	p.V179V	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	keratin associated protein 10-8	179	19 X 5 AA repeats of C-C-X(3).|13.					keratin filament				large_intestine(1)|breast(1)	2						GTGTGCCTGTCTGCTCTGGGG	0.622													T	46032554	C	T	46032554	2	4	26	1	0	0	0	0	0	0	0	1	8515	900	32	4		4	KRTAP10-8	21	46032554	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	5473501	46032554	2097341	174	23943											
SEZ6L	23544	broad.mit.edu	37	chr22	26706696	26706696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctacgactcccttcaaacCgagagtgtcccttttgaggg	9	13	2	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr22:26706696C>T	uc003acb.2	+	7	1731	c.1575C>T	c.(1573-1575)ACC>ACT	p.T525T	SEZ6L_uc003acc.2_Silent_p.T525T|SEZ6L_uc011akc.1_Silent_p.T525T|SEZ6L_uc003acd.2_Silent_p.T525T|SEZ6L_uc011akd.1_Silent_p.T525T|SEZ6L_uc003ace.2_Silent_p.T525T|SEZ6L_uc003acf.1_Silent_p.T298T|SEZ6L_uc010gvc.1_Silent_p.T298T	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	525	CUB 2.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						CCCTTCAAACCGAGAGTGTCC	0.587													T	26706696	C	T	26706696	2	4	26	1	0	0	0	0	0	0	0	1	14143	639	23	1		1	SEZ6L	22	26706696	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08		26706696	24597870	175	23944											
SLC5A1	6523	broad.mit.edu	37	chr22	32479091	32479091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggtgatttacacggacaCcttgcagacggtgatcatgc	13	10	1	3			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr22:32479091C>T	uc003amc.2	+	7	846	c.614C>T	c.(613-615)ACC>ATC	p.T205I	SLC5A1_uc011alz.1_Missense_Mutation_p.T78I	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	205	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						TACACGGACACCTTGCAGACG	0.587													T	32479091	C	T	32479091	3	4	26	1	0	0	0	0	1	0	0	0	14661	507	18	4	640	4	SLC5A1	22	32479091	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	5772395	32479091	18825475	176	23945											
BPIL2	254240	broad.mit.edu	37	chr22	32831745	32831745	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgaaatgagcaaaggaCgcagatttaaagaaatactc	10	6	0	4			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chr22:32831745C>T	uc003amn.2	-	8	870	c.870G>A	c.(868-870)GCG>GCA	p.A290A	BPIL2_uc010gwo.2_Silent_p.A104A|BPIL2_uc011amb.1_Silent_p.A14A	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	bactericidal/permeability-increasing	290						extracellular region	lipopolysaccharide binding|phospholipid binding			ovary(1)|skin(1)	2						GAGCAAAGGACGCAGATTTAA	0.498													T	32831745	C	T	32831745	2	4	26	1	0	0	0	0	0	0	0	1	1492	523	19	1		1	BPIL2	22	32831745	Silent	SNP	C	TCGA-BR-4371-01A-01D-1158-08	352654	32831745	18472821	177	23946											
CDKL5	6792	broad.mit.edu	37	chrX	18671592	18671592	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacgttatgagggaagccctGattcacagggcccaggtaaa	12	10	1	2			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chrX:18671592G>T	uc004cym.2	+	21	3274	c.3021G>T	c.(3019-3021)CTG>CTT	p.L1007L	CDKL5_uc004cyn.2_Silent_p.L1007L|RS1_uc004cyo.2_Intron	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	1007					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					GGGAAGCCCTGATTCACAGGG	0.572													T	18671592	G	T	18671592	2	4	26	1	0	0	0	0	0	0	0	1	3157	1277	45	5		5	CDKL5	23	18671592	Silent	SNP	G	TCGA-BR-4371-01A-01D-1158-08		18671592	136598968	178	23947											
MAGEB6	158809	broad.mit.edu	37	chrX	26212639	26212639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacatgctgaagtgtgtcCgcagagagtacaagccctac	11	11	0	3			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chrX:26212639C>T	uc004dbr.2	+	2	825	c.676C>T	c.(676-678)CGC>TGC	p.R226C	MAGEB6_uc010ngc.1_Missense_Mutation_p.R6C	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	226	MAGE.									ovary(3)	3						GAAGTGTGTCCGCAGAGAGTA	0.483													T	26212639	C	T	26212639	3	4	26	1	0	0	0	0	1	0	0	0	9179	652	23	1	678	1	MAGEB6	23	26212639	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	7541047	26212639	129057921	179	23948											
ZNF81	347344	broad.mit.edu	37	chrX	47775487	47775487	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgtgggaaatctttcccttCtaagtcacaactccagatgc	7	12	3	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chrX:47775487C>A	uc010nhy.1	+	6	1810	c.1442C>A	c.(1441-1443)TCT>TAT	p.S481Y		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	481	C2H2-type 6.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)				TCTTTCCCTTCTAAGTCACAA	0.433													A	47775487	C	A	47775487	3	1	26	1	0	0	0	0	1	0	0	0	18171	913	32	5	1456	5	ZNF81	23	47775487	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	21562848	47775487	107495073	180	23949											
DOCK11	139818	broad.mit.edu	37	chrX	117748655	117748655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgttttggtttctatagCgctgtttgacactaatggat	9	5	1	1			TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chrX:117748655C>T	uc004eqp.2	+	29	3160	c.3097C>T	c.(3097-3099)CGC>TGC	p.R1033C	DOCK11_uc004eqq.2_Missense_Mutation_p.R799C	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1033					blood coagulation	cytosol	GTP binding			ovary(3)	3						GTTTCTATAGCGCTGTTTGAC	0.274													T	117748655	C	T	117748655	3	4	26	1	0	0	0	0	1	0	0	0	4686	782	27	1	3211	1	DOCK11	23	117748655	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	69973168	117748655	37521905	181	23950											
IGSF1	3547	broad.mit.edu	37	chrX	130419221	130419221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcatctggatatgagtgCggcagatgtaaaccccttca	12	9	2	2	rs149790689		TCGA-BR-4371-01A-01D-1158-08	TCGA-BR-4371-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	959629fa-0d96-4774-a99c-c5103a42d8d8	158777de-8f13-42b8-847c-a5951a7246a2	g.chrX:130419221C>T	uc004ewd.2	-	5	837	c.599G>A	c.(598-600)CGC>CAC	p.R200H	IGSF1_uc004ewe.3_Missense_Mutation_p.R189H|IGSF1_uc004ewf.2_Missense_Mutation_p.R180H|IGSF1_uc004ewg.2_Missense_Mutation_p.R200H	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	200	Ig-like C2-type 2.|Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						GATATGAGTGCGGCAGATGTA	0.552													T	130419221	C	T	130419221	3	4	26	1	0	0	0	0	1	0	0	0	7596	768	27	1	3552	1	IGSF1	23	130419221	Missense_Mutation	SNP	C	TCGA-BR-4371-01A-01D-1158-08	12670566	130419221	24851339	182	23951											
SAMD11	148398	broad.mit.edu	37	chr1	879321	879321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggccgagttttctacgtgGccagcttccccgtggctctg	13	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:879321G>A	uc001abw.1	+	14	1914	c.1834G>A	c.(1834-1836)GCC>ACC	p.A612T	SAMD11_uc001abx.1_Missense_Mutation_p.A475T	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	612						nucleus					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TTTCTACGTGGCCAGCTTCCC	0.682													A	879321	G	A	879321	3	1	27	1	0	0	0	0	1	0	0	0	13816	1203	42	2	1884	2	SAMD11	1	879321	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08		879321	248371300	1	23952											
AGRN	375790	broad.mit.edu	37	chr1	985290	985290	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctccatccaggaccaacCtgtgccgatgagaagagccc	9	15	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:985290C>T	uc001ack.1	+	27	4802	c.4752C>T	c.(4750-4752)ACC>ACT	p.T1584T		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	1584	EGF-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CAGGACCAACCTGTGCCGATG	0.726													T	985290	C	T	985290	2	4	27	1	0	0	0	0	0	0	0	1	397	668	24	4		4	AGRN	1	985290	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	105969	985290	248265331	2	23953											
UBE2J2	118424	broad.mit.edu	37	chr1	1190610	1190610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgatgctcctcagcacGtacttgaccgtgtaagcaaa	10	12	1	1	rs147177041		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:1190610G>A	uc001adn.2	-	7	1063	c.753C>T	c.(751-753)TAC>TAT	p.Y251Y	UBE2J2_uc001adm.2_Silent_p.Y216Y|UBE2J2_uc001ado.2_Silent_p.Y267Y|UBE2J2_uc001adp.2_Silent_p.Y251Y|UBE2J2_uc001adq.2_Silent_p.Y199Y|UBE2J2_uc001adr.2_Silent_p.Y199Y|UBE2J2_uc001ads.2_Silent_p.Y199Y	NM_194458	NP_919440	Q8N2K1	UB2J2_HUMAN	ubiquitin conjugating enzyme E2, J2 isoform 3	251	Lumenal (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		TCCTCAGCACGTACTTGACCG	0.652													A	1190610	G	A	1190610	2	1	27	1	0	0	0	0	0	0	0	1	16858	1140	40	1		1	UBE2J2	1	1190610	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	205320	1190610	248060011	3	23954											
CPSF3L	54973	broad.mit.edu	37	chr1	1249150	1249150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaaaagcccggtcgaaggCcttgatgtgcttgaactcaa	11	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:1249150C>T	uc001aee.1	-	9	977	c.919G>A	c.(919-921)GCC>ACC	p.A307T	CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.A313T|CPSF3L_uc009vjz.1_Missense_Mutation_p.A285T|CPSF3L_uc010nyj.1_Missense_Mutation_p.A278T|CPSF3L_uc001aeg.1_Missense_Mutation_p.A183T|CPSF3L_uc001aeh.1_Missense_Mutation_p.A206T|CPSF3L_uc001aei.1_Missense_Mutation_p.A209T|CPSF3L_uc001aej.1_Missense_Mutation_p.A134T|CPSF3L_uc001aek.1_Missense_Mutation_p.A49T	NM_017871	NP_060341	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor	307						Golgi apparatus|nucleus	hydrolase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		CGGTCGAAGGCCTTGATGTGC	0.587													T	1249150	C	T	1249150	3	4	27	1	0	0	0	0	1	0	0	0	3827	739	26	2	919	2	CPSF3L	1	1249150	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	58540	1249150	248001471	4	23955											
DVL1	1855	broad.mit.edu	37	chr1	1275509	1275509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagatgccgccgtctccaCggtcgttgctctgccccacg	11	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:1275509C>T	uc001aer.3	-	8	865	c.818G>A	c.(817-819)CGT>CAT	p.R273H	DVL1_uc002quu.2_Translation_Start_Site|DVL1_uc009vka.2_Translation_Start_Site|DVL1_uc001aeu.1_Translation_Start_Site	NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	273	PDZ.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCCGTCTCCACGGTCGTTGCT	0.647													T	1275509	C	T	1275509	3	4	27	1	0	0	0	0	1	0	0	0	4835	536	19	1	1226	1	DVL1	1	1275509	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	26359	1275509	247975112	5	23956											
MXRA8	54587	broad.mit.edu	37	chr1	1290077	1290077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacctgggcctggggcgcCgctgtggctggagccgttgc	17	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:1290077C>T	uc001aew.2	-	5	965	c.934G>A	c.(934-936)GGC>AGC	p.G312S	MXRA8_uc001aex.3_Missense_Mutation_p.G312S|MXRA8_uc001aey.3_Missense_Mutation_p.G312S|MXRA8_uc010nyl.1_Missense_Mutation_p.G312S|MXRA8_uc001aez.2_Missense_Mutation_p.G211S|MXRA8_uc001afa.2_Missense_Mutation_p.G303S	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	312	Extracellular (Potential).					integral to membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCTGGGGCGCCGCTGTGGCTG	0.761													T	1290077	C	T	1290077	3	4	27	1	0	0	0	0	1	0	0	0	10005	652	23	1	418	1	MXRA8	1	1290077	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	14568	1290077	247960544	6	23957											
CCNL2	81669	broad.mit.edu	37	chr1	1325706	1325706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctttgcctcttcgatagCgtgctttcttttttccactt	7	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:1325706C>T	uc001afi.2	-	8	942	c.910G>A	c.(910-912)GCT>ACT	p.A304T	CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Missense_Mutation_p.A82T|CCNL2_uc001afg.1_Missense_Mutation_p.A82T|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	cyclin L2 isoform A	304					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TCTTCGATAGCGTGCTTTCTT	0.567													T	1325706	C	T	1325706	3	4	27	1	0	0	0	0	1	0	0	0	2932	768	27	1	668	1	CCNL2	1	1325706	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	35629	1325706	247924915	7	23958											
ATAD3C	219293	broad.mit.edu	37	chr1	1391275	1391275	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtacgggccaccaggcacCgggaagacgctgtttgccaa	13	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:1391275C>T	uc001aft.2	+	6	1538	c.543C>T	c.(541-543)ACC>ACT	p.T181T		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	181	ATP (Potential).						ATP binding|nucleoside-triphosphatase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CACCAGGCACCGGGAAGACGC	0.632													T	1391275	C	T	1391275	2	4	27	1	0	0	0	0	0	0	0	1	1075	639	23	1		1	ATAD3C	1	1391275	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	65569	1391275	247859346	8	23959											
MORN1	79906	broad.mit.edu	37	chr1	2288909	2288909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctcctggccatggaggGcacccaaatgcagctccagg	12	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:2288909G>A	uc001ajb.1	-	10	1019	c.998C>T	c.(997-999)GCC>GTC	p.A333V	MORN1_uc009vld.2_Missense_Mutation_p.A309V|MORN1_uc001ajd.1_Missense_Mutation_p.A333V	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	MORN repeat containing 1	333										ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		GCCATGGAGGGCACCCAAATG	0.692													A	2288909	G	A	2288909	3	1	27	1	0	0	0	0	1	0	0	0	9708	1203	42	2	515	2	MORN1	1	2288909	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	897634	2288909	246961712	9	23960											
PANK4	55229	broad.mit.edu	37	chr1	2447082	2447082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtccaccgtgtcgggcacGtaggagggcgggtccaggag	19	10	0	0	rs143863716	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:2447082G>A	uc001ajm.1	-	10	1302	c.1293C>T	c.(1291-1293)TAC>TAT	p.Y431Y	PANK4_uc010nza.1_Silent_p.Y392Y	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	431					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1)	3	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TGTCGGGCACGTAGGAGGGCG	0.652													A	2447082	G	A	2447082	2	1	27	1	0	0	0	0	0	0	0	1	11419	1140	40	1		1	PANK4	1	2447082	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	158173	2447082	246803539	10	23961											
ARHGEF16	27237	broad.mit.edu	37	chr1	3394499	3394499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggagagctgttcttagtgGaagaaaccggactttttcga	13	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:3394499G>A	uc001akg.3	+	11	1782	c.1534G>A	c.(1534-1536)GAA>AAA	p.E512K	ARHGEF16_uc001aki.2_Missense_Mutation_p.E224K|ARHGEF16_uc001akj.2_Missense_Mutation_p.E224K|ARHGEF16_uc010nzh.1_Missense_Mutation_p.E216K	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	512	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GTTCTTAGTGGAAGAAACCGG	0.572													A	3394499	G	A	3394499	3	1	27	1	0	0	0	0	1	0	0	0	899	1175	41	4	1572	4	ARHGEF16	1	3394499	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	947417	3394499	245856122	11	23962											
ARHGEF16	27237	broad.mit.edu	37	chr1	3395096	3395096	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcaaccgtagctcctcCgtgccccaccccttccaggt	10	19	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:3395096C>T	uc001akg.3	+	12	1982	c.1734C>T	c.(1732-1734)TCC>TCT	p.S578S	ARHGEF16_uc001aki.2_Silent_p.S290S|ARHGEF16_uc001akj.2_Silent_p.S290S|ARHGEF16_uc010nzh.1_Silent_p.S282S	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	578	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GTAGCTCCTCCGTGCCCCACC	0.662													T	3395096	C	T	3395096	2	4	27	1	0	0	0	0	0	0	0	1	899	639	23	1		1	ARHGEF16	1	3395096	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	597	3395096	245855525	12	23963											
ARHGEF16	27237	broad.mit.edu	37	chr1	3397074	3397074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttccccgaggactttgccCgcttcatcaccagccgtgtg	11	15	2	0	rs74614375		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:3397074C>T	uc001akg.3	+	15	2301	c.2053C>T	c.(2053-2055)CGC>TGC	p.R685C	ARHGEF16_uc001aki.2_Missense_Mutation_p.R397C|ARHGEF16_uc001akj.2_Missense_Mutation_p.R397C|ARHGEF16_uc010nzh.1_Missense_Mutation_p.R389C	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	685	SH3.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGACTTTGCCCGCTTCATCAC	0.682													T	3397074	C	T	3397074	3	4	27	1	0	0	0	0	1	0	0	0	899	652	23	1	2107	1	ARHGEF16	1	3397074	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1978	3397074	245853547	13	23964											
MEGF6	1953	broad.mit.edu	37	chr1	3417801	3417801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaggctccggtctcagggtCgcagcgggcagcgtgctggc	18	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:3417801C>T	uc001akl.2	-	19	2613	c.2386G>A	c.(2386-2388)GAC>AAC	p.D796N	MEGF6_uc001akk.2_Missense_Mutation_p.D691N	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	796	EGF-like 13.					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GTCTCAGGGTCGCAGCGGGCA	0.697													T	3417801	C	T	3417801	3	4	27	1	0	0	0	0	1	0	0	0	9462	884	31	1	2315	1	MEGF6	1	3417801	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	20727	3417801	245832820	14	23965											
WDR8	49856	broad.mit.edu	37	chr1	3552529	3552529	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaagcaggtgtcccacacTgccagcacacagccgtttgg	10	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:3552529T>C	uc001ako.2	-	6	690	c.582A>G	c.(580-582)GCA>GCG	p.A194A	WDR8_uc001akn.3_Silent_p.A194A|WDR8_uc010nzi.1_3'UTR	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN	WD repeat domain 8	194	WD 3.					centrosome	protein binding				0	all_cancers(77;0.0128)|all_epithelial(69;0.00526)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;4.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.16e-22)|GBM - Glioblastoma multiforme(42;1.05e-14)|Colorectal(212;1.19e-05)|BRCA - Breast invasive adenocarcinoma(365;2.67e-05)|COAD - Colon adenocarcinoma(227;5.82e-05)|Kidney(185;0.000364)|KIRC - Kidney renal clear cell carcinoma(229;0.00223)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TGTCCCACACTGCCAGCACAC	0.488													C	3552529	T	C	3552529	2	2	27	1	0	0	0	0	0	0	0	1	17326	1567	55	3		3	WDR8	1	3552529	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	134728	3552529	245698092	15	23966											
CCDC27	148870	broad.mit.edu	37	chr1	3669074	3669074	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccatcttcccctccacacCccaagccaggctgaagagag	9	17	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:3669074C>A	uc001akv.2	+	1	110	c.29C>A	c.(28-30)CCC>CAC	p.P10H		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	10										skin(1)	1	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CCCTCCACACCCCAAGCCAGG	0.592													A	3669074	C	A	3669074	3	1	27	1	0	0	0	0	1	0	0	0	2801	623	22	5	31	5	CCDC27	1	3669074	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	116545	3669074	245581547	16	23967											
NPHP4	261734	broad.mit.edu	37	chr1	6008211	6008211	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcaggcaccagtacaAcgacctgcggcctctgcacg	9	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:6008211A>G	uc001alq.1	-	8	1177	c.911T>C	c.(910-912)GTT>GCT	p.V304A	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	304					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CACCAGTACAACGACCTGCGG	0.617													G	6008211	A	G	6008211	3	3	27	1	0	0	0	0	1	0	0	0	10581	43	2	3	3461	3	NPHP4	1	6008211	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2339137	6008211	243242410	17	23968											
CHD5	26038	broad.mit.edu	37	chr1	6172337	6172337	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcagccttggtgtcaTctgccggggacagatcacat	10	13	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:6172337T>A	uc001amb.1	-	35	5103	c.5003A>T	c.(5002-5004)GAT>GTT	p.D1668V	CHD5_uc001alz.1_Missense_Mutation_p.D525V|CHD5_uc001ama.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1668					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTTGGTGTCATCTGCCGGGGA	0.313													A	6172337	T	A	6172337	3	1	27	1	0	0	0	0	1	0	0	0	3328	1449	50	5	889	5	CHD5	1	6172337	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	164126	6172337	243078284	18	23969											
CHD5	26038	broad.mit.edu	37	chr1	6202212	6202212	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacggaataccttcttcccActccgaatggcgttgtcctc	7	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:6202212A>G	uc001amb.1	-	15	2512	c.2412T>C	c.(2410-2412)AGT>AGC	p.S804S	CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	804	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCTTCTTCCCACTCCGAATGG	0.597													G	6202212	A	G	6202212	2	3	27	1	0	0	0	0	0	0	0	1	3328	156	6	3		3	CHD5	1	6202212	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	29875	6202212	243048409	19	23970											
GPR153	387509	broad.mit.edu	37	chr1	6311498	6311498	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggcccagaggaacacaggCagcagcagggcctgggccac	15	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:6311498C>A	uc001amp.1	-	4	1139	c.879G>T	c.(877-879)CTG>CTT	p.L293L	GPR153_uc001amo.1_5'Flank	NM_207370	NP_997253	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	293	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GGAACACAGGCAGCAGCAGGG	0.672													A	6311498	C	A	6311498	2	1	27	1	0	0	0	0	0	0	0	1	6659	697	25	5		5	GPR153	1	6311498	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	109286	6311498	242939123	20	23971											
GPR153	387509	broad.mit.edu	37	chr1	6314057	6314057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcagacgccaaagcccagGccgatctcagccacgatgaa	10	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:6314057G>A	uc001amp.1	-	3	767	c.507C>T	c.(505-507)GGC>GGT	p.G169G		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	169	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CAAAGCCCAGGCCGATCTCAG	0.662													A	6314057	G	A	6314057	2	1	27	1	0	0	0	0	0	0	0	1	6659	1190	42	2		2	GPR153	1	6314057	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2559	6314057	242936564	21	23972											
TNFRSF25	8718	broad.mit.edu	37	chr1	6521665	6521665	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atctccacctccacggcttcGatctctgcctcgcgcagccc	7	20	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:6521665G>T	uc001ane.2	-	10	1171	c.1083C>A	c.(1081-1083)ATC>ATA	p.I361I	TNFRSF25_uc001ana.2_Silent_p.I178I|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_Silent_p.I134I|TNFRSF25_uc009vlz.2_RNA|TNFRSF25_uc001anf.2_Silent_p.I324I|TNFRSF25_uc001ang.2_Silent_p.I316I|TNFRSF25_uc001anh.2_Silent_p.I370I	NM_003790	NP_003781	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily,	361	Death.|Cytoplasmic (Potential).				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(2)|breast(1)	3	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CCACGGCTTCGATCTCTGCCT	0.697													T	6521665	G	T	6521665	2	4	27	1	0	0	0	0	0	0	0	1	16293	1048	37	5		5	TNFRSF25	1	6521665	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	207608	6521665	242728956	22	23973											
ZBTB48	3104	broad.mit.edu	37	chr1	6649079	6649079	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaggacgagaagatggtggTggtggcgctgcagccgcctg	19	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:6649079T>C	uc009vmc.1	+	11	1997	c.1874T>C	c.(1873-1875)GTG>GCG	p.V625A	ZBTB48_uc001anx.2_Missense_Mutation_p.V625A|ZBTB48_uc009vmd.1_Missense_Mutation_p.V625A|ZBTB48_uc001any.1_Missense_Mutation_p.V263A	NM_005341	NP_005332	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	625						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		AAGATGGTGGTGGTGGCGCTG	0.677													C	6649079	T	C	6649079	3	2	27	1	0	0	0	0	1	0	0	0	17546	1696	59	3	1912	3	ZBTB48	1	6649079	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	127414	6649079	242601542	23	23974											
DNAJC11	55735	broad.mit.edu	37	chr1	6712987	6712987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcttccagagaggatggCtgtgtctgtcgctgtcaagg	16	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:6712987C>T	uc001aof.2	-	6	638	c.532G>A	c.(532-534)GCC>ACC	p.A178T	DNAJC11_uc010nzt.1_Missense_Mutation_p.A140T|DNAJC11_uc001aog.2_Missense_Mutation_p.A178T|DNAJC11_uc010nzu.1_Missense_Mutation_p.A88T	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	178					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GAGAGGATGGCTGTGTCTGTC	0.488													T	6712987	C	T	6712987	3	4	27	1	0	0	0	0	1	0	0	0	4630	797	28	2	1191	2	DNAJC11	1	6712987	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	63908	6712987	242537634	24	23975											
CAMTA1	23261	broad.mit.edu	37	chr1	7797373	7797373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgctgtacaagtgggaccGtcgggccatctcgattcccg	13	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:7797373G>A	uc001aoi.2	+	15	3608	c.3401G>A	c.(3400-3402)CGT>CAT	p.R1134H	CAMTA1_uc010nzv.1_Missense_Mutation_p.R221H|CAMTA1_uc001aok.3_Missense_Mutation_p.R177H|CAMTA1_uc001aoj.2_Missense_Mutation_p.R90H	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AAGTGGGACCGTCGGGCCATC	0.567													A	7797373	G	A	7797373	3	1	27	1	0	0	0	0	1	0	0	0	2613	1145	40	1	3459	1	CAMTA1	1	7797373	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1084386	7797373	241453248	25	23976											
CAMTA1	23261	broad.mit.edu	37	chr1	7798045	7798045	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagacctcgttctgaacccTctaattactacagcagtgag	8	11	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:7798045T>G	uc001aoi.2	+	16	3892	c.3685T>G	c.(3685-3687)TCT>GCT	p.S1229A	CAMTA1_uc010nzv.1_Missense_Mutation_p.S316A|CAMTA1_uc001aok.3_Missense_Mutation_p.S272A|CAMTA1_uc001aoj.2_Missense_Mutation_p.S185A	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTCTGAACCCTCTAATTACTA	0.443													G	7798045	T	G	7798045	3	3	27	1	0	0	0	0	1	0	0	0	2613	1551	54	5	3747	5	CAMTA1	1	7798045	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	672	7798045	241452576	26	23977											
PER3	8863	broad.mit.edu	37	chr1	7887864	7887864	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaaggaacacgtgcccaCaaactgagtatgtaagtgat	11	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:7887864C>T	uc001aoo.2	+	17	3026	c.2851C>T	c.(2851-2853)CAA>TAA	p.Q951*	PER3_uc009vmg.1_Nonsense_Mutation_p.Q959*|PER3_uc009vmh.1_Nonsense_Mutation_p.Q952*|PER3_uc001aop.2_Nonsense_Mutation_p.Q959*|PER3_uc010nzw.1_Nonsense_Mutation_p.Q640*	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	951					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CACGTGCCCACAAACTGAGTA	0.438													T	7887864	C	T	7887864	4	4	27	1	0	0	0	0	0	1	0	0	11731	479	17	4	2917	4	PER3	1	7887864	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	89819	7887864	241362757	27	23978											
ERRFI1	54206	broad.mit.edu	37	chr1	8073426	8073426	+	Frame_Shift_Del	DEL	A	A	-													tttgtttcttctgcttccctAaaaaatttttcatatttgtc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:8073425_8073425TA>T	uc001aoz.3	-	3	1483	c.1234_1234TA>A	c.(1234-1236)aggfs	p.R412fs		NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	Homo sapiens ERBB receptor feedback inhibitor 1 (ERRFI1), mRNA.	412					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	Rho GTPase activator activity|protein kinase binding			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TCTGCTTCCCTAAAAAATTTT	0.403													-	8073426	A	-	8073426	7	5	27	1	0	1	0	1	0	0	0	0	5244	359	13	0	159	0	ERRFI1	1	8073426	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	185562	8073426	241177195	28	23979											
RERE	473	broad.mit.edu	37	chr1	8418702	8418702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctcccgctcgcggatgGtggggtcgacgttgtagagg	19	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:8418702G>A	uc001ape.2	-	21	4703	c.3893C>T	c.(3892-3894)ACC>ATC	p.T1298I	RERE_uc001apf.2_Missense_Mutation_p.T1298I|RERE_uc001apd.2_Missense_Mutation_p.T744I	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1298					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTCGCGGATGGTGGGGTCGAC	0.667													A	8418702	G	A	8418702	3	1	27	1	0	0	0	0	1	0	0	0	13231	1261	44	4	823	4	RERE	1	8418702	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	345276	8418702	240831919	29	23980											
RERE	473	broad.mit.edu	37	chr1	8568729	8568729	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccccctgggtactgttcAgcctcctggaacagaaatag	9	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:8568729A>G	uc001ape.2	-	9	1646	c.836T>C	c.(835-837)CTG>CCG	p.L279P	RERE_uc001apf.2_Missense_Mutation_p.L279P|RERE_uc010nzx.1_Missense_Mutation_p.L11P|RERE_uc001aph.1_Missense_Mutation_p.L279P	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	279	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGTACTGTTCAGCCTCCTGGA	0.368													G	8568729	A	G	8568729	3	3	27	1	0	0	0	0	1	0	0	0	13231	188	7	3	3928	3	RERE	1	8568729	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	150027	8568729	240681892	30	23981											
RERE	473	broad.mit.edu	37	chr1	8684437	8684437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgactctcgatatacacacAgtctttaaaagaaaaagaaa	5	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:8684437A>G	uc001ape.2	-	4	1138	c.328T>C	c.(328-330)TGT>CGT	p.C110R	RERE_uc001apf.2_Missense_Mutation_p.C110R|RERE_uc001aph.1_Missense_Mutation_p.C110R	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	110	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ATATACACACAGTCTTTAAAA	0.368													G	8684437	A	G	8684437	3	3	27	1	0	0	0	0	1	0	0	0	13231	188	7	3	4456	3	RERE	1	8684437	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	115708	8684437	240566184	31	23982											
GPR157	80045	broad.mit.edu	37	chr1	9188749	9188749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgatctgtgcgaggcccgCgcgcggcgcggacgatgctg	19	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:9188749C>T	uc001apq.1	-	1	481	c.338G>A	c.(337-339)CGC>CAC	p.R113H	GPR157_uc010oad.1_Missense_Mutation_p.R113H|GPR157_uc001apr.2_Missense_Mutation_p.R113H|GPR157_uc001aps.2_Silent_p.A161A	NM_024980	NP_079256	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	113	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		GCGAGGCCCGCGCGCGGCGCG	0.672													T	9188749	C	T	9188749	3	4	27	1	0	0	0	0	1	0	0	0	6662	768	27	1	685	1	GPR157	1	9188749	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	504312	9188749	240061872	32	23983											
CTNNBIP1	56998	broad.mit.edu	37	chr1	9910819	9910819	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgacctggaaaacgccatcAccacgtcctctgcacctgca	7	18	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:9910819A>G	uc001aqk.1	-	6	510	c.203T>C	c.(202-204)GTG>GCG	p.V68A	CTNNBIP1_uc001aql.1_Missense_Mutation_p.V68A	NM_020248	NP_064633	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	68					anterior/posterior pattern formation|branching involved in ureteric bud morphogenesis|negative regulation of mesenchymal cell proliferation|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell proliferation|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway|positive regulation of monocyte differentiation|positive regulation of osteoblast differentiation|regulation of vascular permeability involved in acute inflammatory response|Wnt receptor signaling pathway	Axin-APC-beta-catenin-GSK3B complex|cytosol|nucleus	armadillo repeat domain binding|beta-catenin binding				0		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		AAACGCCATCACCACGTCCTC	0.587													G	9910819	A	G	9910819	3	3	27	1	0	0	0	0	1	0	0	0	4017	159	6	3	46	3	CTNNBIP1	1	9910819	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	722070	9910819	239339802	33	23984											
UBE4B	10277	broad.mit.edu	37	chr1	10165777	10165777	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccatgttctgcagcgtggctTcctttggtgccagctctttg	11	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:10165777T>A	uc001aqs.3	+	6	1497	c.784T>A	c.(784-786)TCC>ACC	p.S262T	UBE4B_uc001aqr.3_Missense_Mutation_p.S262T|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	262					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CAGCGTGGCTTCCTTTGGTGC	0.478													A	10165777	T	A	10165777	3	1	27	1	0	0	0	0	1	0	0	0	16880	1783	62	5	806	5	UBE4B	1	10165777	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	254958	10165777	239084844	34	23985											
UBE4B	10277	broad.mit.edu	37	chr1	10231209	10231209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcctaggagcttggaccccGattggctgcaatgctgaact	11	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:10231209G>A	uc001aqs.3	+	25	4060	c.3347G>A	c.(3346-3348)CGA>CAA	p.R1116Q	UBE4B_uc001aqr.3_Missense_Mutation_p.R987Q|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.R571Q|UBE4B_uc001aqu.2_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	1116					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTTGGACCCCGATTGGCTGCA	0.453													A	10231209	G	A	10231209	3	1	27	1	0	0	0	0	1	0	0	0	16880	1058	37	1	3445	1	UBE4B	1	10231209	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	65432	10231209	239019412	35	23986											
KIF1B	23095	broad.mit.edu	37	chr1	10423365	10423365	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagtcactggcatttacgaActcagcttatgcaaaatgtc	8	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:10423365A>G	uc001aqx.3	+	41	4531	c.4329A>G	c.(4327-4329)GAA>GAG	p.E1443E	KIF1B_uc001aqw.3_Silent_p.E1397E|KIF1B_uc001aqy.2_Silent_p.E1417E|KIF1B_uc001aqz.2_Silent_p.E1443E|KIF1B_uc001ara.2_Silent_p.E1403E|KIF1B_uc001arb.2_Silent_p.E1429E	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	1443					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCATTTACGAACTCAGCTTAT	0.343													G	10423365	A	G	10423365	2	3	27	1	0	0	0	0	0	0	0	1	8284	40	2	3		3	KIF1B	1	10423365	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	192156	10423365	238827256	36	23987											
DFFA	1676	broad.mit.edu	37	chr1	10523179	10523179	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagtgcagtaaggatgTggctcgccagcgcaacgtcc	12	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:10523179T>C	uc001arj.2	-	5	817	c.719A>G	c.(718-720)CAC>CGC	p.H240R	DFFA_uc001ark.2_Missense_Mutation_p.H240R	NM_004401	NP_004392	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha	240					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding				0	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		AGTAAGGATGTGGCTCGCCAG	0.567													C	10523179	T	C	10523179	3	2	27	1	0	0	0	0	1	0	0	0	4452	1696	59	3	308	3	DFFA	1	10523179	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	99814	10523179	238727442	37	23988											
CASZ1	54897	broad.mit.edu	37	chr1	10720009	10720009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttgcctgtcttgaaggCgatggccccgcccatgtcgg	12	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:10720009C>T	uc001aro.2	-	6	1410	c.1090G>A	c.(1090-1092)GCC>ACC	p.A364T	CASZ1_uc001arp.1_Missense_Mutation_p.A364T|CASZ1_uc009vmx.2_Missense_Mutation_p.A388T|CASZ1_uc001arq.1_Missense_Mutation_p.A223T	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GTCTTGAAGGCGATGGCCCCG	0.647													T	10720009	C	T	10720009	3	4	27	1	0	0	0	0	1	0	0	0	2685	768	27	1	4257	1	CASZ1	1	10720009	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	196830	10720009	238530612	38	23989											
MTOR	2475	broad.mit.edu	37	chr1	11313937	11313937	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggaccagctcgttaaggaTcaacaaggctccatggatcc	10	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:11313937T>C	uc001asd.2	-	6	920	c.799A>G	c.(799-801)ATC>GTC	p.I267V		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	267					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						TCGTTAAGGATCAACAAGGCT	0.498													C	11313937	T	C	11313937	3	2	27	1	0	0	0	0	1	0	0	0	9954	1435	50	3	7062	3	MTOR	1	11313937	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	593928	11313937	237936684	39	23990											
PTCHD2	57540	broad.mit.edu	37	chr1	11580746	11580746	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgccctttcctcacagggCtgttcgtctccatcctcatc	7	17	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:11580746C>T	uc001ash.3	+	10	2341	c.2203C>T	c.(2203-2205)CTG>TTG	p.L735L	PTCHD2_uc001asi.1_Silent_p.L735L	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	735	Helical; (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCTCACAGGGCTGTTCGTCTC	0.652													T	11580746	C	T	11580746	2	4	27	1	0	0	0	0	0	0	0	1	12733	796	28	2		2	PTCHD2	1	11580746	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	266809	11580746	237669875	40	23991											
PTCHD2	57540	broad.mit.edu	37	chr1	11591735	11591735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgggcgtcagggagggcCgcgtgcagtggatctccatg	18	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:11591735C>T	uc001ash.3	+	17	3481	c.3343C>T	c.(3343-3345)CGC>TGC	p.R1115C		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1115	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAGGGAGGGCCGCGTGCAGTG	0.667													T	11591735	C	T	11591735	3	4	27	1	0	0	0	0	1	0	0	0	12733	652	23	1	3405	1	PTCHD2	1	11591735	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	10989	11591735	237658886	41	23992											
PTCHD2	57540	broad.mit.edu	37	chr1	11595642	11595642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctccgtggattactgcGtccacctggtcgagggctac	12	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:11595642G>A	uc001ash.3	+	20	3895	c.3757G>A	c.(3757-3759)GTC>ATC	p.V1253I		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1253	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGATTACTGCGTCCACCTGGT	0.647													A	11595642	G	A	11595642	3	1	27	1	0	0	0	0	1	0	0	0	12733	1145	40	1	3831	1	PTCHD2	1	11595642	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3907	11595642	237654979	42	23993											
PLOD1	5351	broad.mit.edu	37	chr1	12018613	12018613	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcggcgtgttcatcgAacagcccacgccgtttgtgt	12	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:12018613A>G	uc001atm.2	+	9	975	c.884A>G	c.(883-885)GAA>GGA	p.E295G	PLOD1_uc010obb.1_Missense_Mutation_p.E342G	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	lysyl hydroxylase 1 precursor	295					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			ovary(2)|breast(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTGTTCATCGAACAGCCCACG	0.597													G	12018613	A	G	12018613	3	3	27	1	0	0	0	0	1	0	0	0	12101	246	9	3	918	3	PLOD1	1	12018613	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	422971	12018613	237232008	43	23994											
TNFRSF8	943	broad.mit.edu	37	chr1	12198386	12198386	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacagcgtgggggcagcctAcctggagagcctgccgctgc	15	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:12198386A>G	uc001atq.2	+	14	1658	c.1436A>G	c.(1435-1437)TAC>TGC	p.Y479C	TNFRSF8_uc010obc.1_Missense_Mutation_p.Y367C|TNFRSF8_uc001atr.2_Missense_Mutation_p.Y16C|TNFRSF8_uc001ats.2_Intron	NM_001243	NP_001234	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily,	479	Cytoplasmic (Potential).				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGCAGCCTACCTGGAGAGC	0.677													G	12198386	A	G	12198386	3	3	27	1	0	0	0	0	1	0	0	0	16296	391	14	3	1490	3	TNFRSF8	1	12198386	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	179773	12198386	237052235	44	23995											
AADACL4	343066	broad.mit.edu	37	chr1	12726188	12726188	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgggctcaggttctgatttaTccagttgtccaggcattctg	11	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:12726188T>A	uc001auf.2	+	4	666	c.666T>A	c.(664-666)TAT>TAA	p.Y222*		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	222	Lumenal (Potential).					integral to membrane	carboxylesterase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TTCTGATTTATCCAGTTGTCC	0.532													A	12726188	T	A	12726188	4	1	27	1	0	0	0	0	0	1	0	0	13	1442	50	5	680	5	AADACL4	1	12726188	Nonsense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	527802	12726188	236524433	45	23996											
PRAMEF1	65121	broad.mit.edu	37	chr1	12855624	12855624	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagaacttggaattaactTatggctacctattggaagaa	10	5	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:12855624T>C	uc001auj.1	+	4	1007	c.904T>C	c.(904-906)TAT>CAT	p.Y302H		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	302											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGAATTAACTTATGGCTACCT	0.473													C	12855624	T	C	12855624	3	2	27	1	0	0	0	0	1	0	0	0	12425	1754	61	3	914	3	PRAMEF1	1	12855624	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	129436	12855624	236394997	46	23997											
LOC649330	649330	broad.mit.edu	37	chr1	12907311	12907311	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgtcatcctctccttcctCagcctctttttcatcatcct	2	17	7	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:12907311C>T	uc009vno.2	-	1	927	c.832G>A	c.(832-834)GAG>AAG	p.E278K	HNRNPCL1_uc010obf.1_Missense_Mutation_p.E278K	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	278							nucleic acid binding|nucleotide binding				0						TCTCCTTCCTCAGCCTCTTTT	0.478													T	12907311	C	T	12907311	3	4	27	1	0	0	0	0	1	0	0	0	8885	835	29	4	53	4	LOC649330	1	12907311	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	51687	12907311	236343310	47	23998											
PRDM2	7799	broad.mit.edu	37	chr1	14059379	14059379	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatgtatacatgtgggaggTaagaagtaattctgattctt	10	3	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:14059379T>C	uc001avi.2	+	4	1087	c.231_splice	c.e4+2	p.E77_splice	PRDM2_uc001avg.2_Splice_Site_p.E77_splice|PRDM2_uc001avh.2_Splice_Site_p.E77_splice|PRDM2_uc001avj.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger							Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ATGTGGGAGGTAAGAAGTAAT	0.284													C	14059379	T	C	14059379	5	2	27	1	0	0	0	0	0	0	1	0	12458	1652	57	3	243	3	PRDM2	1	14059379	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1152068	14059379	235191242	48	23999											
PRDM2	7799	broad.mit.edu	37	chr1	14106661	14106662	+	Frame_Shift_Del	DEL	GA	GA	-													ggagtttgtctgggagagatGagagagaaactgtgagccct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:14106660_14106661TGA>T	uc001avi.3	+	7	3226_3227	c.2370_2371TGA>T	c.(2368-2373)gatgagfs	p.D790fs	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Frame_Shift_Del_p.D790fs|PRDM2_uc021ogk.1_Frame_Shift_Del_p.D553fs|PRDM2_uc001avk.3_Frame_Shift_Del_p.D589fs|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	790						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTGGGAGAGATGAGAGAGAAAC	0.47													-	14106662	GA	-	14106661	7	5	27	1	0	1	0	1	0	0	0	0	12458	1291	45	0	2397	0	PRDM2	1	14106661	Frame_Shift_Del	DEL	GA	TCGA-BR-6452-01A-12D-1800-08	47282	14106661	235143960	49	24000											
PRDM2	7799	broad.mit.edu	37	chr1	14108310	14108310	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcacaaagtgtggaaaAggtgtcgacaatatgccgga	13	8	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:14108310A>G	uc001avi.2	+	8	4876	c.4020A>G	c.(4018-4020)AAA>AAG	p.K1340K	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.K1340K|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.K1139K|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1340	C2H2-type 7; atypical.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGTGTGGAAAAGGTGTCGACA	0.463													G	14108310	A	G	14108310	2	3	27	1	0	0	0	0	0	0	0	1	12458	69	3	3		3	PRDM2	1	14108310	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1649	14108310	235142311	50	24001											
PRDM2	7799	broad.mit.edu	37	chr1	14108398	14108398	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtacacgcctaagaaaaacCcagtaccattaaaacaaact	5	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:14108398C>G	uc001avi.2	+	8	4964	c.4108C>G	c.(4108-4110)CCA>GCA	p.P1370A	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.P1370A|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.P1169A|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1370	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TAAGAAAAACCCAGTACCATT	0.453													G	14108398	C	G	14108398	3	3	27	1	0	0	0	0	1	0	0	0	12458	623	22	5	4134	5	PRDM2	1	14108398	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	88	14108398	235142223	51	24002											
PRDM2	7799	broad.mit.edu	37	chr1	14108484	14108484	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatgccttccgacgaatgggAcagcccaaaaggcttaactt	9	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:14108484A>T	uc001avi.2	+	8	5050	c.4194A>T	c.(4192-4194)GGA>GGT	p.G1398G	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.G1398G|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.G1197G|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1398	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GACGAATGGGACAGCCCAAAA	0.398													T	14108484	A	T	14108484	2	4	27	1	0	0	0	0	0	0	0	1	12458	262	10	5		5	PRDM2	1	14108484	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	86	14108484	235142137	52	24003											
PRDM2	7799	broad.mit.edu	37	chr1	14108568	14108568	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatgcattgaagaaaaaaaaTcagctagtacagaaagcaat	7	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:14108568T>A	uc001avi.2	+	8	5134	c.4278T>A	c.(4276-4278)AAT>AAA	p.N1426K	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.N1426K|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.N1225K|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1426	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGAAAAAAAATCAGCTAGTAC	0.403													A	14108568	T	A	14108568	3	1	27	1	0	0	0	0	1	0	0	0	12458	1432	50	5	4304	5	PRDM2	1	14108568	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	84	14108568	235142053	53	24004											
PRDM2	7799	broad.mit.edu	37	chr1	14108802	14108802	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacactcatcacctgcaagTagtgacaaaaacagtaacag	8	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:14108802T>C	uc001avi.2	+	8	5368	c.4512T>C	c.(4510-4512)AGT>AGC	p.S1504S	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.S1504S|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.S1303S|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1504						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CACCTGCAAGTAGTGACAAAA	0.483													C	14108802	T	C	14108802	2	2	27	1	0	0	0	0	0	0	0	1	12458	1635	57	3		3	PRDM2	1	14108802	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	234	14108802	235141819	54	24005											
KAZ	23254	broad.mit.edu	37	chr1	15390079	15390079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctacagggcgacagtccCggcccagttcagaagaacct	12	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:15390079C>T	uc001avm.3	+	7	1340	c.1059C>T	c.(1057-1059)CCC>CCT	p.P353P	KAZ_uc009vog.1_Silent_p.P353P|KAZ_uc010obj.1_Silent_p.P353P|KAZ_uc001avo.2_Silent_p.P347P|KAZ_uc001avp.2_Silent_p.P259P|KAZ_uc001avq.2_Silent_p.P259P|KAZ_uc001avr.2_Missense_Mutation_p.R255W	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	353					keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0						GCGACAGTCCCGGCCCAGTTC	0.592													T	15390079	C	T	15390079	2	4	27	1	0	0	0	0	0	0	0	1	7988	639	23	1		1	KAZ	1	15390079	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1281277	15390079	233860542	55	24006											
CELA2B	51032	broad.mit.edu	37	chr1	15812448	15812448	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagttgctggttgtggaCtatgccacctgctccagctc	12	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:15812448C>T	uc001awl.2	+	6	571	c.546C>T	c.(544-546)GAC>GAT	p.D182D		NM_015849	NP_056933	P08218	CEL2B_HUMAN	elastase 2B preproprotein	182	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						TGGTTGTGGACTATGCCACCT	0.577													T	15812448	C	T	15812448	2	4	27	1	0	0	0	0	0	0	0	1	3212	564	20	4		4	CELA2B	1	15812448	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	422369	15812448	233438173	56	24007											
CASP9	842	broad.mit.edu	37	chr1	15833485	15833485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcgatgttggagccagtgCgggtgcggagcccggactca	17	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:15833485C>T	uc001awn.2	-	4	634	c.539G>A	c.(538-540)CGC>CAC	p.R180H	CASP9_uc001awm.1_Missense_Mutation_p.R180H|CASP9_uc001awo.2_Intron|CASP9_uc001awp.2_Missense_Mutation_p.R24H|CASP9_uc009voi.2_Missense_Mutation_p.R24H|CASP9_uc010obm.1_Missense_Mutation_p.R97H|CASP9_uc001awq.2_Missense_Mutation_p.R97H	NM_001229	NP_001220	P55211	CASP9_HUMAN	caspase 9 isoform alpha preproprotein	180					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(1)|kidney(1)	2		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		GGAGCCAGTGCGGGTGCGGAG	0.582													T	15833485	C	T	15833485	3	4	27	1	0	0	0	0	1	0	0	0	2679	768	27	1	735	1	CASP9	1	15833485	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	21037	15833485	233417136	57	24008											
RSC1A1	6248	broad.mit.edu	37	chr1	15987346	15987346	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaaataaagaatatggccAttactcctctccaagtctct	4	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:15987346A>G	uc010obn.1	+	1	983	c.983A>G	c.(982-984)CAT>CGT	p.H328R		NM_006511	NP_006502	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1,	328					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			ovary(1)	1		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAATATGGCCATTACTCCTCT	0.423													G	15987346	A	G	15987346	3	3	27	1	0	0	0	0	1	0	0	0	13698	217	8	3	985	3	RSC1A1	1	15987346	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	153861	15987346	233263275	58	24009											
PLEKHM2	23207	broad.mit.edu	37	chr1	16056303	16056303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctatgcaggttctttttggCttctttgaagtcagccatga	9	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:16056303C>T	uc010obo.1	+	14	2314	c.2087C>T	c.(2086-2088)GCT>GTT	p.A696V		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	696					Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TTCTTTTTGGCTTCTTTGAAG	0.552													T	16056303	C	T	16056303	3	4	27	1	0	0	0	0	1	0	0	0	12081	797	28	2	2141	2	PLEKHM2	1	16056303	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	68957	16056303	233194318	59	24010											
FBLIM1	54751	broad.mit.edu	37	chr1	16095085	16095085	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccatggaggaagagctgccAcctcccccggcagaacctgt	11	16	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:16095085A>G	uc001axd.1	+	6	944	c.501A>G	c.(499-501)CCA>CCG	p.P167P	FBLIM1_uc001axe.1_Silent_p.P167P|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Silent_p.P167P|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	filamin-binding LIM protein-1 isoform a	167	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			skin(1)	1		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		AAGAGCTGCCACCTCCCCCGG	0.647													G	16095085	A	G	16095085	2	3	27	1	0	0	0	0	0	0	0	1	5697	146	6	3		3	FBLIM1	1	16095085	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	38782	16095085	233155536	60	24011											
SPEN	23013	broad.mit.edu	37	chr1	16263760	16263760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccctcccagctcggtcagCccggccagccaccaagcagc	10	21	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:16263760C>T	uc001axk.1	+	12	10333	c.10129C>T	c.(10129-10131)CCC>TCC	p.P3377S	SPEN_uc010obp.1_Missense_Mutation_p.P3336S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3377	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCTCGGTCAGCCCGGCCAGCC	0.672													T	16263760	C	T	16263760	3	4	27	1	0	0	0	0	1	0	0	0	15037	739	26	2	10175	2	SPEN	1	16263760	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	168675	16263760	232986861	61	24012											
ZBTB17	7709	broad.mit.edu	37	chr1	16274869	16274869	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actcgctgcaggccgccagcActgctttatgagccttaaag	10	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:16274869A>T	uc001axl.3	-	3	361	c.122T>A	c.(121-123)GTG>GAG	p.V41E	ZBTB17_uc010obq.1_Intron|ZBTB17_uc010obr.1_Missense_Mutation_p.V41E|ZBTB17_uc010obs.1_5'UTR|ZBTB17_uc010obt.1_Missense_Mutation_p.V41E|ZBTB17_uc010obu.1_Intron|ZBTB17_uc009vom.1_Missense_Mutation_p.V41E|ZBTB17_uc010obv.1_Missense_Mutation_p.V41E|ZBTB17_uc009von.1_Missense_Mutation_p.V44E	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	41	BTB.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCGCCAGCACTGCTTTATG	0.577													T	16274869	A	T	16274869	3	4	27	1	0	0	0	0	1	0	0	0	17524	159	6	5	2345	5	ZBTB17	1	16274869	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	11109	16274869	232975752	62	24013											
CLCNKB	1188	broad.mit.edu	37	chr1	16382999	16382999	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggctgcgtgtcctgggTggaggtaccagggtcccggg	20	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:16382999T>C	uc001axw.3	+	19	2092	c.2012T>C	c.(2011-2013)GTG>GCG	p.V671A	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.V671A|CLCNKB_uc001axy.3_Missense_Mutation_p.V501A	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	671	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTCCTGGGTGGAGGTACCA	0.622											OREG0013133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	16382999	T	C	16382999	3	2	27	1	0	0	0	0	1	0	0	0	3470	1696	59	3	2230	3	CLCNKB	1	16382999	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	108130	16382999	232867622	63	24014											
ARHGEF19	128272	broad.mit.edu	37	chr1	16529008	16529008	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgccctgcagcttcaggcTcaggtcccgcacctgcagct	11	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:16529008T>G	uc001ayc.1	-	13	2106	c.1969A>C	c.(1969-1971)AGC>CGC	p.S657R	ARHGEF19_uc009voo.1_Missense_Mutation_p.S10R|ARHGEF19_uc001ayb.1_Missense_Mutation_p.S134R	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	657	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTTCAGGCTCAGGTCCCGC	0.667													G	16529008	T	G	16529008	3	3	27	1	0	0	0	0	1	0	0	0	902	1551	54	5	455	5	ARHGEF19	1	16529008	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	146009	16529008	232721613	64	24015											
CROCC	9696	broad.mit.edu	37	chr1	17257788	17257788	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcatgtcttccctccagtcCttcaacgcctacttcagcaa	6	16	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:17257788C>A	uc001azt.2	+	8	921	c.852C>A	c.(850-852)TCC>TCA	p.S284S	CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Silent_p.S47S	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	284					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CCCTCCAGTCCTTCAACGCCT	0.617													A	17257788	C	A	17257788	2	1	27	1	0	0	0	0	0	0	0	1	3893	668	24	5		5	CROCC	1	17257788	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	728780	17257788	231992833	65	24016											
ATP13A2	23400	broad.mit.edu	37	chr1	17313105	17313105	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaggacggagctcaggagCgccagggccaccaggaaggg	17	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:17313105C>A	uc001baa.2	-	28	3448	c.3258G>T	c.(3256-3258)GCG>GCT	p.A1086A	ATP13A2_uc001azz.1_Intron|ATP13A2_uc001bab.2_Silent_p.A1081A|ATP13A2_uc001bac.2_Intron	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	1086	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGCTCAGGAGCGCCAGGGCCA	0.687													A	17313105	C	A	17313105	2	1	27	1	0	0	0	0	0	0	0	1	1124	755	27	5		5	ATP13A2	1	17313105	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	55317	17313105	231937516	66	24017											
SDHB	6390	broad.mit.edu	37	chr1	17354302	17354302	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgccttcctgagattcaTccttcttcttcaaataaggc	6	12	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:17354302T>C	uc001bae.2	-	5	633	c.482A>G	c.(481-483)GAT>GGT	p.D161G		NM_003000	NP_002991	P21912	DHSB_HUMAN	succinate dehydrogenase complex, subunit B, iron	161					respiratory electron transport chain|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding			breast(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	CTGAGATTCATCCTTCTTCTT	0.323			Mis|N|F			paraganglioma|pheochromocytoma			Familial_Paragangliomas|Carney-Stratakis_syndrome|Cowden_syndrome				C	17354302	T	C	17354302	3	2	27	1	0	0	0	0	1	0	0	0	13965	1435	50	3	376	3	SDHB	1	17354302	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	41197	17354302	231896319	67	24018											
PADI2	11240	broad.mit.edu	37	chr1	17410313	17410313	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttcttcacctctttcaggaAcaggtaattatccttcatgc	6	11	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:17410313A>T	uc001baf.2	-	9	1040	c.958T>A	c.(958-960)TTC>ATC	p.F320I	PADI2_uc010ocm.1_Missense_Mutation_p.F204I|PADI2_uc001bag.1_Missense_Mutation_p.F320I	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	320					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TCTTTCAGGAACAGGTAATTA	0.522													T	17410313	A	T	17410313	3	4	27	1	0	0	0	0	1	0	0	0	11378	43	2	5	1071	5	PADI2	1	17410313	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	56011	17410313	231840308	68	24019											
PADI3	51702	broad.mit.edu	37	chr1	17596816	17596816	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttgcatggggatgaggaGcgcttcttcgtggaaggcct	16	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:17596816G>A	uc001bai.2	+	7	781	c.741G>A	c.(739-741)GAG>GAA	p.E247E		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	247					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGGATGAGGAGCGCTTCTTCG	0.577													A	17596816	G	A	17596816	2	1	27	1	0	0	0	0	0	0	0	1	11379	962	34	2		2	PADI3	1	17596816	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	186503	17596816	231653805	69	24020											
PADI3	51702	broad.mit.edu	37	chr1	17609396	17609396	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccccaagccctttgggcccaTcatcaatggctgctgctgcc	9	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:17609396T>A	uc001bai.2	+	16	1857	c.1817T>A	c.(1816-1818)ATC>AAC	p.I606N		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	606					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TTTGGGCCCATCATCAATGGC	0.602													A	17609396	T	A	17609396	3	1	27	1	0	0	0	0	1	0	0	0	11379	1435	50	5	1879	5	PADI3	1	17609396	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	12580	17609396	231641225	70	24021											
PADI6	353238	broad.mit.edu	37	chr1	17720850	17720850	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaccataaagtggccagcAtggattccattgggaacctg	12	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:17720850A>G	uc001bak.1	+	12	1237	c.1237A>G	c.(1237-1239)ATG>GTG	p.M413V		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	peptidylarginine deiminase type 6	405					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGTGGCCAGCATGGATTCCAT	0.572													G	17720850	A	G	17720850	3	3	27	1	0	0	0	0	1	0	0	0	11381	217	8	3	1280	3	PADI6	1	17720850	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	111454	17720850	231529771	71	24022											
RCC2	55920	broad.mit.edu	37	chr1	17747324	17747324	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctggccgttgtacattaTctgaaaagacaagaaaggag	12	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:17747324T>G	uc001bal.2	-	6	792	c.745A>C	c.(745-747)ATA>CTA	p.I249L	RCC2_uc001bam.2_Missense_Mutation_p.I249L	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	249	RCC1 3.				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle					0		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		TTGTACATTATCTGAAAAGAC	0.408													G	17747324	T	G	17747324	3	3	27	1	0	0	0	0	1	0	0	0	13174	1449	50	5	851	5	RCC2	1	17747324	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	26474	17747324	231503297	72	24023											
RCC2	55920	broad.mit.edu	37	chr1	17749252	17749252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctgcagacacaatcacttCgtggctaagaccctcgatga	9	12	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:17749252C>T	uc001bal.2	-	4	651	c.604G>A	c.(604-606)GAA>AAA	p.E202K	RCC2_uc001bam.2_Missense_Mutation_p.E202K	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	202	RCC1 2.				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle					0		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		ACAATCACTTCGTGGCTAAGA	0.557													T	17749252	C	T	17749252	3	4	27	1	0	0	0	0	1	0	0	0	13174	893	31	1	1000	1	RCC2	1	17749252	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1928	17749252	231501369	73	24024											
ARHGEF10L	55160	broad.mit.edu	37	chr1	18021710	18021710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggtctgctctgggtggGcactgaccagggtgtcatcg	16	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:18021710G>A	uc001ban.2	+	28	3401	c.3242G>A	c.(3241-3243)GGC>GAC	p.G1081D	ARHGEF10L_uc001bao.2_Missense_Mutation_p.G1042D|ARHGEF10L_uc001bap.2_Missense_Mutation_p.G1037D|ARHGEF10L_uc001baq.2_Missense_Mutation_p.G842D|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.G854D|ARHGEF10L_uc001bar.2_Missense_Mutation_p.G784D|ARHGEF10L_uc009vpf.2_RNA|ARHGEF10L_uc001bas.2_Missense_Mutation_p.G105D	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	1081					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CTCTGGGTGGGCACTGACCAG	0.632													A	18021710	G	A	18021710	3	1	27	1	0	0	0	0	1	0	0	0	895	1203	42	2	3348	2	ARHGEF10L	1	18021710	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	272458	18021710	231228911	74	24025											
UBR4	23352	broad.mit.edu	37	chr1	19403330	19403330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcttcgtagatgggcatgtCgttgtggcggatgtactcag	15	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:19403330C>T	uc001bbi.2	-	105	15395	c.15391G>A	c.(15391-15393)GAC>AAC	p.D5131N	UBR4_uc001bbe.1_5'Flank|UBR4_uc001bbf.2_Missense_Mutation_p.D26N|UBR4_uc010ocv.1_Missense_Mutation_p.D654N|UBR4_uc009vph.2_Missense_Mutation_p.D786N|UBR4_uc010ocw.1_Missense_Mutation_p.D795N|UBR4_uc001bbg.2_Missense_Mutation_p.D842N|UBR4_uc001bbh.2_Missense_Mutation_p.D840N	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	5131					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATGGGCATGTCGTTGTGGCGG	0.547													T	19403330	C	T	19403330	3	4	27	1	0	0	0	0	1	0	0	0	16901	884	31	1	168	1	UBR4	1	19403330	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1381620	19403330	229847291	75	24026											
UBR4	23352	broad.mit.edu	37	chr1	19415355	19415355	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcaatcttcttgtttacGtcagggtgttcccgcagggc	12	11	4	0	rs139905088		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:19415355G>A	uc001bbi.2	-	98	14332	c.14328C>T	c.(14326-14328)GAC>GAT	p.D4776D	UBR4_uc010ocv.1_Silent_p.D299D|UBR4_uc009vph.2_Silent_p.D410D|UBR4_uc010ocw.1_Silent_p.D440D|UBR4_uc001bbg.2_Silent_p.D487D|UBR4_uc001bbh.2_Silent_p.D485D	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	4776					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTTGTTTACGTCAGGGTGTT	0.597													A	19415355	G	A	19415355	2	1	27	1	0	0	0	0	0	0	0	1	16901	1136	40	1		1	UBR4	1	19415355	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	12025	19415355	229835266	76	24027											
UBR4	23352	broad.mit.edu	37	chr1	19440266	19440266	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgagccaactgcaggatgTaacgattcacactggcagaa	10	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:19440266T>C	uc001bbi.2	-	77	11388	c.11384A>G	c.(11383-11385)TAC>TGC	p.Y3795C	UBR4_uc001bbj.1_3'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3795					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTGCAGGATGTAACGATTCAC	0.522											OREG0013168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	19440266	T	C	19440266	3	2	27	1	0	0	0	0	1	0	0	0	16901	1638	57	3	4287	3	UBR4	1	19440266	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	24911	19440266	229810355	77	24028											
UBR4	23352	broad.mit.edu	37	chr1	19447850	19447850	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttgctgccgcacagagcaCaggagagcagttgcagcagc	13	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:19447850C>A	uc001bbi.2	-	68	9978	c.9974G>T	c.(9973-9975)TGT>TTT	p.C3325F	UBR4_uc001bbk.1_Missense_Mutation_p.C972F	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3325					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCACAGAGCACAGGAGAGCAG	0.602													A	19447850	C	A	19447850	3	1	27	1	0	0	0	0	1	0	0	0	16901	478	17	5	5733	5	UBR4	1	19447850	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	7584	19447850	229802771	78	24029											
UBR4	23352	broad.mit.edu	37	chr1	19467907	19467907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctcgtcatctgcatcagGtgggatgtccagcatggggg	16	9	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:19467907G>A	uc001bbi.2	-	57	8426	c.8422C>T	c.(8422-8424)CCT>TCT	p.P2808S	UBR4_uc001bbk.1_Missense_Mutation_p.P490S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2808					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTGCATCAGGTGGGATGTCC	0.587													A	19467907	G	A	19467907	3	1	27	1	0	0	0	0	1	0	0	0	16901	1261	44	4	7329	4	UBR4	1	19467907	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	20057	19467907	229782714	79	24030											
UBR4	23352	broad.mit.edu	37	chr1	19480342	19480342	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactaccagcggcacccctgTagtttgctggacacagcaca	9	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:19480342T>C	uc001bbi.2	-	45	6554	c.6550A>G	c.(6550-6552)ACA>GCA	p.T2184A	UBR4_uc001bbk.1_5'Flank|UBR4_uc001bbl.1_Missense_Mutation_p.T121A|UBR4_uc001bbm.1_Missense_Mutation_p.T1396A	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2184					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCACCCCTGTAGTTTGCTGG	0.502													C	19480342	T	C	19480342	3	2	27	1	0	0	0	0	1	0	0	0	16901	1638	57	3	9249	3	UBR4	1	19480342	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	12435	19480342	229770279	80	24031											
KIAA0090	23065	broad.mit.edu	37	chr1	19566468	19566468	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaatccacttccaaattcTaagtcgagagactggaaggc	10	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:19566468T>C	uc001bbo.2	-	8	841	c.798A>G	c.(796-798)TTA>TTG	p.L266L	KIAA0090_uc001bbp.2_Silent_p.L266L|KIAA0090_uc001bbq.2_Silent_p.L266L|KIAA0090_uc001bbr.2_Silent_p.L244L	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	266	Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		TTCCAAATTCTAAGTCGAGAG	0.582													C	19566468	T	C	19566468	2	2	27	1	0	0	0	0	0	0	0	1	8153	1519	53	3		3	KIAA0090	1	19566468	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	86126	19566468	229684153	81	24032											
MRTO4	51154	broad.mit.edu	37	chr1	19584466	19584466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagctgggcctgcccaccGccctcaagagaggtatgggc	15	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:19584466G>A	uc001bbs.2	+	6	736	c.481G>A	c.(481-483)GCC>ACC	p.A161T		NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog	161					ribosome biogenesis	nuclear membrane|nucleolus					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCCCACCGCCCTCAAGAG	0.577													A	19584466	G	A	19584466	3	1	27	1	0	0	0	0	1	0	0	0	9852	1087	38	1	503	1	MRTO4	1	19584466	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	17998	19584466	229666155	82	24033											
AKR7A2	8574	broad.mit.edu	37	chr1	19633822	19633822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgtaccagccagagggttgTaggcatagaacctcagtcca	11	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:19633822T>C	uc001bbw.2	-	4	696	c.674A>G	c.(673-675)TAC>TGC	p.Y225C	AKR7A2_uc001bbx.2_Missense_Mutation_p.Y190C	NM_003689	NP_003680	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2	225					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAGAGGGTTGTAGGCATAGAA	0.582													C	19633822	T	C	19633822	3	2	27	1	0	0	0	0	1	0	0	0	475	1638	57	3	421	3	AKR7A2	1	19633822	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	49356	19633822	229616799	83	24034											
PQLC2	54896	broad.mit.edu	37	chr1	19653883	19653883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcttgtgggcagcctgGgcgtgctgctgctcgacacc	15	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:19653883G>A	uc001bby.2	+	8	1133	c.781G>A	c.(781-783)GGC>AGC	p.G261S	PQLC2_uc001bbz.2_Missense_Mutation_p.G196S|PQLC2_uc001bca.2_Missense_Mutation_p.G261S|PQLC2_uc001bcb.2_Missense_Mutation_p.G150S|PQLC2_uc001bcc.2_Missense_Mutation_p.G150S	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	261	Helical; (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCAGCCTGGGCGTGCTGCT	0.652													A	19653883	G	A	19653883	3	1	27	1	0	0	0	0	1	0	0	0	12419	1232	43	4	803	4	PQLC2	1	19653883	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	20061	19653883	229596738	84	24035											
PQLC2	54896	broad.mit.edu	37	chr1	19655099	19655099	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtgtacaggcgcagcAccgccgcctcggagcttgag	14	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:19655099A>G	uc001bby.2	+	9	1190	c.838A>G	c.(838-840)ACC>GCC	p.T280A	PQLC2_uc001bbz.2_Missense_Mutation_p.T215A|PQLC2_uc001bca.2_Missense_Mutation_p.T280A|PQLC2_uc001bcb.2_Missense_Mutation_p.T169A|PQLC2_uc001bcc.2_Missense_Mutation_p.T169A	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	280	Cytoplasmic (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGCGCAGCACCGCCGCCTC	0.672													G	19655099	A	G	19655099	3	3	27	1	0	0	0	0	1	0	0	0	12419	159	6	3	864	3	PQLC2	1	19655099	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1216	19655099	229595522	85	24036											
CAPZB	832	broad.mit.edu	37	chr1	19683914	19683914	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagctgctgggaggcagtAcctgcacttctaccacgtgg	12	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:19683914A>G	uc010ocz.1	-	5	986	c.558_splice	c.e5+1	p.Q186_splice	CAPZB_uc001bce.2_Splice_Site_p.Q157_splice|CAPZB_uc009vpk.2_Splice_Site_p.Q183_splice|CAPZB_uc001bcd.2_Splice_Site_p.Q145_splice	NM_004930	NP_004921	P47756	CAPZB_HUMAN	F-actin capping protein beta subunit						actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding				0		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		GGGAGGCAGTACCTGCACTTC	0.547													G	19683914	A	G	19683914	5	3	27	1	0	0	0	0	0	0	1	0	2643	405	14	3	365	3	CAPZB	1	19683914	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	28815	19683914	229566707	86	24037											
TMCO4	255104	broad.mit.edu	37	chr1	20009620	20009620	+	Frame_Shift_Del	DEL	G	G	-													tccatgccatggctgcagatGgggggcctttcagggctggc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:20009619_20009619TG>T	uc001bcn.3	-	15	2061	c.1819_1819CA>A	c.(1819-1821)atcfs	p.I607fs	TMCO4_uc001bco.1_Intron|TMCO4_uc001bcp.1_Intron	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	607						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TGGCTGCAGATGGGGGGCCTT	0.677													-	20009620	G	-	20009620	7	5	27	1	0	1	0	1	0	0	0	0	15995	1335	47	0	90	0	TMCO4	1	20009620	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	325706	20009620	229241001	87	24038											
OTUD3	23252	broad.mit.edu	37	chr1	20233069	20233069	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caataaggcacaggccagccCtagtgaagaaaacaaagcaa	9	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:20233069C>A	uc001bcs.3	+	7	1099	c.980C>A	c.(979-981)CCT>CAT	p.P327H		NM_015207	NP_056022	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	327											0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGCCAGCCCTAGTGAAGAA	0.502													A	20233069	C	A	20233069	3	1	27	1	0	0	0	0	1	0	0	0	11313	681	24	5	1006	5	OTUD3	1	20233069	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	223449	20233069	229017552	88	24039											
PLA2G2C	391013	broad.mit.edu	37	chr1	20490512	20490512	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggcttatgtctgccacacCtgggctggctggagaactgc	14	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:20490512C>A	uc009vpq.1	-	3	425	c.425G>T	c.(424-426)AGG>ATG	p.R142M		NM_001105572	NP_001099042			phospholipase A2, group IIC precursor												0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCTGCCACACCTGGGCTGGCT	0.393													A	20490512	C	A	20490512	3	1	27	1	0	0	0	0	1	0	0	0	11996	681	24	5	31	5	PLA2G2C	1	20490512	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	257443	20490512	228760109	89	24040											
KIF17	57576	broad.mit.edu	37	chr1	20998558	20998558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtccctgcgaatcaggggCtgcacctgctccaggagctg	13	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:20998558C>T	uc001bdr.3	-	12	2713	c.2595G>A	c.(2593-2595)CAG>CAA	p.Q865Q	KIF17_uc001bdp.3_Silent_p.Q143Q|KIF17_uc001bdq.3_Silent_p.Q143Q|KIF17_uc009vpx.2_Silent_p.Q235Q|KIF17_uc001bds.3_Silent_p.Q865Q	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	865					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GAATCAGGGGCTGCACCTGCT	0.572													T	20998558	C	T	20998558	2	4	27	1	0	0	0	0	0	0	0	1	8279	796	28	2		2	KIF17	1	20998558	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	508046	20998558	228252063	90	24041											
KIF17	57576	broad.mit.edu	37	chr1	21044008	21044008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcgttgtagatctgctcGgtgacgtggtccacgtggta	13	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:21044008G>A	uc001bdr.3	-	1	310	c.192C>T	c.(190-192)ACC>ACT	p.T64T	KIF17_uc001bds.3_Silent_p.T64T	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	64	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AGATCTGCTCGGTGACGTGGT	0.711													A	21044008	G	A	21044008	2	1	27	1	0	0	0	0	0	0	0	1	8279	1103	39	1		1	KIF17	1	21044008	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	45450	21044008	228206613	91	24042											
HP1BP3	50809	broad.mit.edu	37	chr1	21097562	21097562	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgcaccactcttctggaagCatgcctagaaaagatttatt	7	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:21097562C>A	uc001bdw.1	-	6	655	c.515G>T	c.(514-516)TGC>TTC	p.C172F	HP1BP3_uc001bdv.1_Missense_Mutation_p.C134F|HP1BP3_uc010odh.1_Missense_Mutation_p.C134F|HP1BP3_uc001bdy.1_Missense_Mutation_p.C172F|HP1BP3_uc001bdz.2_RNA|HP1BP3_uc001bea.2_Missense_Mutation_p.C171F|HP1BP3_uc010odg.1_Missense_Mutation_p.C20F	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	HP1-BP74	172	H15 1.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|skin(1)	2		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		CTTCTGGAAGCATGCCTAGAA	0.328													A	21097562	C	A	21097562	3	1	27	1	0	0	0	0	1	0	0	0	7328	710	25	5	1178	5	HP1BP3	1	21097562	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	53554	21097562	228153059	92	24043											
EIF4G3	8672	broad.mit.edu	37	chr1	21144005	21144005	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtgcttcagaggaacagggActgtcagactctatgaagtc	12	8	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:21144005A>T	uc001bec.2	-	29	4483	c.4227T>A	c.(4225-4227)AGT>AGA	p.S1409R	EIF4G3_uc010odi.1_Missense_Mutation_p.S1013R|EIF4G3_uc010odj.1_Missense_Mutation_p.S1408R|EIF4G3_uc009vpz.2_Missense_Mutation_p.S1129R|EIF4G3_uc001bed.2_Missense_Mutation_p.S1409R|EIF4G3_uc001bef.2_Missense_Mutation_p.S1445R|EIF4G3_uc001bee.2_Missense_Mutation_p.S1415R	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	1409					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGGAACAGGGACTGTCAGACT	0.368													T	21144005	A	T	21144005	3	4	27	1	0	0	0	0	1	0	0	0	5038	272	10	5	546	5	EIF4G3	1	21144005	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	46443	21144005	228106616	93	24044											
EIF4G3	8672	broad.mit.edu	37	chr1	21226422	21226422	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actttgtcaatggaaagctcCtcttcagctttaagctaaat	6	9	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:21226422C>A	uc001bec.2	-	11	1855	c.1599G>T	c.(1597-1599)GAG>GAT	p.E533D	EIF4G3_uc010odi.1_Missense_Mutation_p.E137D|EIF4G3_uc010odj.1_Missense_Mutation_p.E532D|EIF4G3_uc009vpz.2_Missense_Mutation_p.E253D|EIF4G3_uc001bed.2_Missense_Mutation_p.E533D|EIF4G3_uc001bef.2_Missense_Mutation_p.E532D|EIF4G3_uc001bee.2_Missense_Mutation_p.E539D	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	533					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGAAAGCTCCTCTTCAGCTT	0.363													A	21226422	C	A	21226422	3	1	27	1	0	0	0	0	1	0	0	0	5038	680	24	5	3246	5	EIF4G3	1	21226422	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	82417	21226422	228024199	94	24045											
ALPL	249	broad.mit.edu	37	chr1	21887136	21887136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagagaaagagaaagaccccAagtactggcgagaccaagcg	12	9	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:21887136A>G	uc001bet.2	+	3	336	c.79A>G	c.(79-81)AAG>GAG	p.K27E	ALPL_uc010odn.1_5'UTR|ALPL_uc010odo.1_5'UTR|ALPL_uc010odp.1_5'UTR|ALPL_uc001beu.3_Missense_Mutation_p.K27E	NM_000478	NP_000469	P05186	PPBT_HUMAN	tissue-nonspecific alkaline phosphatase	27					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GAAAGACCCCAAGTACTGGCG	0.502													G	21887136	A	G	21887136	3	3	27	1	0	0	0	0	1	0	0	0	547	131	5	3	85	3	ALPL	1	21887136	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	660714	21887136	227363485	95	24046											
RAP1GAP	5909	broad.mit.edu	37	chr1	21934800	21934800	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggactggctgtggatgtgtAgttcctcatagagcgtctcc	13	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:21934800A>G	uc001bex.2	-	17	1460	c.1202T>C	c.(1201-1203)CTA>CCA	p.L401P	RAP1GAP_uc001bev.2_Missense_Mutation_p.L401P|RAP1GAP_uc001bew.2_Missense_Mutation_p.L465P|RAP1GAP_uc001bey.2_Missense_Mutation_p.L401P	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform c	401					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GTGGATGTGTAGTTCCTCATA	0.647													G	21934800	A	G	21934800	3	3	27	1	0	0	0	0	1	0	0	0	13037	420	15	3	903	3	RAP1GAP	1	21934800	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	47664	21934800	227315821	96	24047											
USP48	84196	broad.mit.edu	37	chr1	22073615	22073615	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgagaagccaatgtaggtAttcagctttttcttatgtcc	8	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:22073615A>G	uc001bfb.2	-	8	1174	c.936T>C	c.(934-936)AAT>AAC	p.N312N	USP48_uc010odq.1_Silent_p.N312N|USP48_uc009vqc.2_Silent_p.N312N|USP48_uc001bfc.2_Silent_p.N312N|USP48_uc001bfe.1_Silent_p.N312N|USP48_uc001bff.2_Silent_p.N312N	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	312					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CAATGTAGGTATTCAGCTTTT	0.313													G	22073615	A	G	22073615	2	3	27	1	0	0	0	0	0	0	0	1	17076	446	16	3		3	USP48	1	22073615	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	138815	22073615	227177006	97	24048											
LDLRAD2	401944	broad.mit.edu	37	chr1	22147988	22147988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagtacagatgcccataCctccagatccctgactccct	7	15	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:22147988C>T	uc001bfg.1	+	4	876	c.689C>T	c.(688-690)ACC>ATC	p.T230I	LDLRAD2_uc001bfh.1_RNA	NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain	230	Extracellular (Potential).					integral to membrane	receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		GATGCCCATACCTCCAGATCC	0.587													T	22147988	C	T	22147988	3	4	27	1	0	0	0	0	1	0	0	0	8706	507	18	4	703	4	LDLRAD2	1	22147988	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	74373	22147988	227102633	98	24049											
HSPG2	3339	broad.mit.edu	37	chr1	22150131	22150131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtagacgctgcccttggcGttgactgccacgttgggacc	13	12	0	2	rs147161785		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:22150131G>A	uc001bfj.2	-	96	13021	c.12981C>T	c.(12979-12981)AAC>AAT	p.N4327N	LDLRAD2_uc001bfg.1_3'UTR|HSPG2_uc001bfi.2_Silent_p.N344N|HSPG2_uc009vqd.2_Silent_p.N4328N	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	4327	Laminin G-like 3.			N->A: Retains proper folding. Reduced calcium ion binding.	angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGCCCTTGGCGTTGACTGCCA	0.652													A	22150131	G	A	22150131	2	1	27	1	0	0	0	0	0	0	0	1	7430	1136	40	1		1	HSPG2	1	22150131	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2143	22150131	227100490	99	24050											
HSPG2	3339	broad.mit.edu	37	chr1	22154901	22154901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtaggtgaggtccagccGtttgccattcactgacacct	10	12	1	2	rs146179360	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:22154901G>A	uc001bfj.2	-	89	12296	c.12256C>T	c.(12256-12258)CGG>TGG	p.R4086W	HSPG2_uc001bfi.2_Missense_Mutation_p.R103W|HSPG2_uc009vqd.2_Missense_Mutation_p.R4087W	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	4086	Laminin G-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGGTCCAGCCGTTTGCCATTC	0.597													A	22154901	G	A	22154901	3	1	27	1	0	0	0	0	1	0	0	0	7430	1144	40	1	955	1	HSPG2	1	22154901	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4770	22154901	227095720	100	24051											
ZBTB40	9923	broad.mit.edu	37	chr1	22832620	22832620	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagaatgactgaagagaagAcgctgactgctgagggtttg	14	6	0	7			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:22832620A>G	uc001bft.2	+	7	1757	c.1246A>G	c.(1246-1248)ACG>GCG	p.T416A	ZBTB40_uc001bfu.2_Missense_Mutation_p.T416A|ZBTB40_uc009vqi.1_Missense_Mutation_p.T304A|ZBTB40_uc001bfv.1_Missense_Mutation_p.T45A	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	416					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGAAGAGAAGACGCTGACTGC	0.478													G	22832620	A	G	22832620	3	3	27	1	0	0	0	0	1	0	0	0	17539	275	10	3	1264	3	ZBTB40	1	22832620	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	677719	22832620	226418001	101	24052											
EPHA8	2046	broad.mit.edu	37	chr1	22924701	22924701	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggctctctggacaccttccTgagggtgcgtgtcccacccc	11	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:22924701T>C	uc001bfx.1	+	12	2299	c.2174T>C	c.(2173-2175)CTG>CCG	p.L725P		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	725	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GACACCTTCCTGAGGGTGCGT	0.627													C	22924701	T	C	22924701	3	2	27	1	0	0	0	0	1	0	0	0	5173	1580	55	3	2393	3	EPHA8	1	22924701	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	92081	22924701	226325920	102	24053											
C1QA	712	broad.mit.edu	37	chr1	22964157	22964157	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtgtgctggccatatcGctggcctctatggtgaccga	12	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:22964157G>A	uc001bfy.2	+	2	133	c.48G>A	c.(46-48)TCG>TCA	p.S16S	C1QA_uc001bfz.2_Silent_p.S16S	NM_015991	NP_057075	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	16					cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGCCATATCGCTGGCCTCTA	0.652													A	22964157	G	A	22964157	2	1	27	1	0	0	0	0	0	0	0	1	1954	1074	38	1		1	C1QA	1	22964157	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	39456	22964157	226286464	103	24054											
C1QC	714	broad.mit.edu	37	chr1	22974134	22974134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggccacacgtccaaaaCcaatcaggtcaactcgggcg	10	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:22974134C>T	uc001bgc.3	+	3	699	c.596C>T	c.(595-597)ACC>ATC	p.T199I	C1QC_uc001bga.3_Missense_Mutation_p.T199I|C1QC_uc001bgb.2_Missense_Mutation_p.T199I	NM_172369	NP_758957	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	199	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACGTCCAAAACCAATCAGGTC	0.587													T	22974134	C	T	22974134	3	4	27	1	0	0	0	0	1	0	0	0	1957	507	18	4	602	4	C1QC	1	22974134	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	9977	22974134	226276487	104	24055											
KDM1A	23028	broad.mit.edu	37	chr1	23405623	23405623	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgccacctctccctgagTggaaaacatctgcagtccaa	8	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:23405623T>C	uc001bgi.2	+	15	2085	c.1936T>C	c.(1936-1938)TGG>CGG	p.W646R	KDM1A_uc001bgj.2_Missense_Mutation_p.W670R	NM_015013	NP_055828	O60341	KDM1A_HUMAN	lysine-specific histone demethylase 1 isoform b	646	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2						TCTCCCTGAGTGGAAAACATC	0.488													C	23405623	T	C	23405623	3	2	27	1	0	0	0	0	1	0	0	0	8122	1696	59	3	2074	3	KDM1A	1	23405623	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	431489	23405623	225844998	105	24056											
LUZP1	7798	broad.mit.edu	37	chr1	23420507	23420507	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacacagatcctctgctctcTtaatttcctcgtctttgcct	5	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:23420507T>A	uc001bgk.2	-	4	632	c.248A>T	c.(247-249)AAG>ATG	p.K83M	LUZP1_uc010odv.1_Missense_Mutation_p.K83M|LUZP1_uc001bgl.2_Missense_Mutation_p.K83M|LUZP1_uc001bgm.1_Missense_Mutation_p.K83M	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	83	Potential.					nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTCTGCTCTCTTAATTTCCTC	0.498													A	23420507	T	A	23420507	3	1	27	1	0	0	0	0	1	0	0	0	9086	1609	56	5	2990	5	LUZP1	1	23420507	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	14884	23420507	225830114	106	24057											
ASAP3	55616	broad.mit.edu	37	chr1	23758207	23758207	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgaatctgacggggaggTacatctccgaaggggtggtc	15	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:23758207T>C	uc001bha.2	-	23	2652	c.2528A>G	c.(2527-2529)TAC>TGC	p.Y843C	ASAP3_uc001bgy.1_Missense_Mutation_p.Y347C|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Missense_Mutation_p.Y733C|ASAP3_uc010oea.1_Missense_Mutation_p.Y834C|ASAP3_uc001bhb.2_Intron	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	843					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						GACGGGGAGGTACATCTCCGA	0.423													C	23758207	T	C	23758207	3	2	27	1	0	0	0	0	1	0	0	0	1012	1638	57	3	195	3	ASAP3	1	23758207	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	337700	23758207	225492414	107	24058											
E2F2	1870	broad.mit.edu	37	chr1	23842920	23842920	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagggtggaggtagaggggaGaggctcctcggaaggactgt	21	5	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:23842920G>A	uc001bhe.1	-	6	1380	c.952C>T	c.(952-954)CTC>TTC	p.L318F		NM_004091	NP_004082	Q14209	E2F2_HUMAN	E2F transcription factor 2	318					G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|skin(2)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GTAGAGGGGAGAGGCTCCTCG	0.622													A	23842920	G	A	23842920	3	1	27	1	0	0	0	0	1	0	0	0	4867	942	33	4	369	4	E2F2	1	23842920	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	84713	23842920	225407701	108	24059											
TCEB3	6924	broad.mit.edu	37	chr1	24078489	24078489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaaccaagtcagagaagcCggctggagctgatttagcca	11	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:24078489C>T	uc001bho.2	+	4	1532	c.1472C>T	c.(1471-1473)CCG>CTG	p.P491L		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	491					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TCAGAGAAGCCGGCTGGAGCT	0.488											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	24078489	C	T	24078489	3	4	27	1	0	0	0	0	1	0	0	0	15678	652	23	1	1486	1	TCEB3	1	24078489	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	235569	24078489	225172132	109	24060											
TCEB3	6924	broad.mit.edu	37	chr1	24080852	24080852	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacctttggtttctctgcaGcaatctttgaagtgggagga	11	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:24080852G>T	uc001bho.2	+	7	1832	c.1772_splice	c.e7-1	p.S591_splice		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A						positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TTTCTCTGCAGCAATCTTTGA	0.478													T	24080852	G	T	24080852	5	4	27	1	0	0	0	0	0	0	1	0	15678	985	34	5	1797	5	TCEB3	1	24080852	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2363	24080852	225169769	110	24061											
C1orf128	57095	broad.mit.edu	37	chr1	24113772	24113772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aattttcttgcagcttcgccGacacgaggtgaccatctgca	9	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:24113772G>A	uc001bhq.2	+	6	672	c.542G>A	c.(541-543)CGA>CAA	p.R181Q	C1orf128_uc010oeb.1_Missense_Mutation_p.R88Q	NM_020362	NP_065095	Q9GZP4	PITH1_HUMAN	chromosome 1 open reading frame 128	181	PITH.										0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.0034)|all_lung(284;0.00519)|Breast(348;0.0222)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.97e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CAGCTTCGCCGACACGAGGTG	0.498													A	24113772	G	A	24113772	3	1	27	1	0	0	0	0	1	0	0	0	1995	1058	37	1	564	1	C1orf128	1	24113772	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	32920	24113772	225136849	111	24062											
FUCA1	2517	broad.mit.edu	37	chr1	24175226	24175226	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctcagccatttcccaAcagcaagaagcctttcttgg	8	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:24175226A>T	uc001bie.2	-	6	1118	c.1073T>A	c.(1072-1074)GTT>GAT	p.V358D		NM_000147	NP_000138	P04066	FUCO_HUMAN	fucosidase, alpha-L-1, tissue precursor	358					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		CCATTTCCCAACAGCAAGAAG	0.463													T	24175226	A	T	24175226	3	4	27	1	0	0	0	0	1	0	0	0	6094	43	2	5	339	5	FUCA1	1	24175226	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	61454	24175226	225075395	112	24063											
MYOM3	127294	broad.mit.edu	37	chr1	24419453	24419453	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacctctcacaagcacgtaGgtgctctgttcccggggtcc	10	15	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:24419453G>T	uc001bin.3	-	10	1237	c.1074C>A	c.(1072-1074)ACC>ACA	p.T358T	MYOM3_uc001bim.3_Silent_p.T15T|MYOM3_uc001bio.2_Silent_p.T358T|MYOM3_uc001bip.1_Silent_p.T15T	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	358	Ig-like C2-type 2.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CAAGCACGTAGGTGCTCTGTT	0.383													T	24419453	G	T	24419453	2	4	27	1	0	0	0	0	0	0	0	1	10093	987	35	5		5	MYOM3	1	24419453	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	244227	24419453	224831168	113	24064											
GRHL3	57822	broad.mit.edu	37	chr1	24673056	24673056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacaggctgcctctgaagCgtacctgctcgcccttcact	8	18	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:24673056C>T	uc001biy.2	+	13	1529	c.1483C>T	c.(1483-1485)CGT>TGT	p.R495C	GRHL3_uc001bix.2_Missense_Mutation_p.R490C|GRHL3_uc001biz.2_Missense_Mutation_p.R397C	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	490					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GCCTCTGAAGCGTACCTGCTC	0.622													T	24673056	C	T	24673056	3	4	27	1	0	0	0	0	1	0	0	0	6765	768	27	1	1554	1	GRHL3	1	24673056	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	253603	24673056	224577565	114	24065											
SRRM1	10250	broad.mit.edu	37	chr1	24977948	24977949	+	Frame_Shift_Del	DEL	GA	GA	-													agacgatcttcccctgtcagGagagagagaaagcgcagtca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:24977947_24977948GGA>G	uc001bjm.3	+	5	793_794	c.569_570GGA>G	c.(568-570)aggfs	p.R190fs	SRRM1_uc010oel.2_Frame_Shift_Del_p.R190fs|SRRM1_uc009vrh.1_Frame_Shift_Del_p.R151fs|SRRM1_uc009vri.1_Frame_Shift_Del_p.R107fs|SRRM1_uc010oem.1_Intron	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	190	Arg-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding	p.V189V(1)|p.V189D(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCCCCTGTCAGGAGAGAGAGAA	0.465													-	24977949	GA	-	24977948	7	5	27	1	0	1	0	1	0	0	0	0	15167	1165	41	0	592	0	SRRM1	1	24977948	Frame_Shift_Del	DEL	GA	TCGA-BR-6452-01A-12D-1800-08	304892	24977948	224272673	115	24066											
SEPN1	57190	broad.mit.edu	37	chr1	26135604	26135604	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggagctgtggcctgcctgActgccatcagcgacttctac	12	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:26135604A>G	uc010oer.1	+	8	890	c.835A>G	c.(835-837)ACT>GCT	p.T279A	SEPN1_uc010oes.1_Missense_Mutation_p.T245A	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	selenoprotein N, 1 isoform 1 precursor	279						endoplasmic reticulum membrane|extracellular region	protein binding			ovary(2)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCTGCCTGACTGCCATCAG	0.647													G	26135604	A	G	26135604	3	3	27	1	0	0	0	0	1	0	0	0	14056	275	10	3	857	3	SEPN1	1	26135604	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1157656	26135604	223115017	116	24067											
PAQR7	164091	broad.mit.edu	37	chr1	26189996	26189996	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggtaggtgaaagaggcaAggacaatgatgaagaggggc	18	3	0	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:26189996A>C	uc001bkx.2	-	2	1002	c.335T>G	c.(334-336)CTT>CGT	p.L112R		NM_178422	NP_848509	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	112	Helical; Name=2; (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)	3		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GAAAGAGGCAAGGACAATGAT	0.592													C	26189996	A	C	26189996	3	2	27	1	0	0	0	0	1	0	0	0	11440	72	3	5	709	5	PAQR7	1	26189996	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	54392	26189996	223060625	117	24068											
CATSPER4	378807	broad.mit.edu	37	chr1	26524554	26524554	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaatatcatggtcctcatcCtcttcttcatgctggtcagt	6	13	6	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:26524554C>A	uc010oez.1	+	5	664	c.664C>A	c.(664-666)CTC>ATC	p.L222I	CATSPER4_uc010oey.1_Missense_Mutation_p.L44I|CATSPER4_uc009vsf.2_RNA	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	222	Helical; Name=Segment S5; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCCTCATCCTCTTCTTCAT	0.597													A	26524554	C	A	26524554	3	1	27	1	0	0	0	0	1	0	0	0	2690	681	24	5	682	5	CATSPER4	1	26524554	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	334558	26524554	222726067	118	24069											
AIM1L	55057	broad.mit.edu	37	chr1	26663751	26663751	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcctttgcttaccgtccggAtgacccggagggaggtcagc	14	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:26663751A>T	uc001bmd.3	-	9	1059	c.629T>A	c.(628-630)ATC>AAC	p.I210N	AIM1L_uc001bmf.3_Missense_Mutation_p.I101N	NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	210	Beta/gamma crystallin 'Greek key' 4.						sugar binding			pancreas(1)	1		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TACCGTCCGGATGACCCGGAG	0.602													T	26663751	A	T	26663751	3	4	27	1	0	0	0	0	1	0	0	0	431	333	12	5	1265	5	AIM1L	1	26663751	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	139197	26663751	222586870	119	24070											
DHDDS	79947	broad.mit.edu	37	chr1	26769270	26769270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctagaggtgacagtctacGcattcagcattgagaacttc	9	10	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:26769270G>A	uc001bml.2	+	4	350	c.229G>A	c.(229-231)GCA>ACA	p.A77T	DHDDS_uc001bmk.2_Missense_Mutation_p.A77T|DHDDS_uc001bmm.2_5'UTR|DHDDS_uc001bmn.2_Missense_Mutation_p.A77T|DHDDS_uc010ofd.1_Missense_Mutation_p.A77T	NM_205861	NP_995583	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase isoform b	77							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(3)	3		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		GACAGTCTACGCATTCAGCAT	0.522													A	26769270	G	A	26769270	3	1	27	1	0	0	0	0	1	0	0	0	4478	1087	38	1	239	1	DHDDS	1	26769270	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	105519	26769270	222481351	120	24071											
RPS6KA1	6195	broad.mit.edu	37	chr1	26878189	26878189	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggacttcctgcgtggtggggAcctcttcacccggctctcaa	12	14	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:26878189A>T	uc001bmr.1	+	6	606	c.443A>T	c.(442-444)GAC>GTC	p.D148V	RPS6KA1_uc010ofe.1_Missense_Mutation_p.D56V|RPS6KA1_uc010off.1_Missense_Mutation_p.D132V|RPS6KA1_uc001bms.1_Missense_Mutation_p.D157V|RPS6KA1_uc009vsl.1_5'UTR|MIR1976_hsa-mir-1976|MI0009986_5'Flank	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	148	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CGTGGTGGGGACCTCTTCACC	0.607													T	26878189	A	T	26878189	3	4	27	1	0	0	0	0	1	0	0	0	13650	275	10	5	604	5	RPS6KA1	1	26878189	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	108919	26878189	222372432	121	24072											
ARID1A	8289	broad.mit.edu	37	chr1	27088788	27088788	+	Frame_Shift_Del	DEL	G	G	-													atggggagctatggtccccaGgggggtcagtatggcccaca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:27088787_27088787AG>A	uc001bmv.1	+	6	2769	c.2396_2396AG>A	c.(2395-2397)cagfs	p.Q799fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.Q799fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Q799fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Q416fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	799					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TATGGTCCCCAGGGGGGTCAG	0.552			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27088788	G	-	27088788	7	5	27	1	0	1	0	1	0	0	0	0	913	991	35	0	2423	0	ARID1A	1	27088788	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	210599	27088788	222161833	122	24073											
ARID1A	8289	broad.mit.edu	37	chr1	27105591	27105591	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggcattttaaaggagtaTgaggtgggtgacccaggaca	14	5	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:27105591T>C	uc001bmv.1	+	20	5575	c.5202T>C	c.(5200-5202)TAT>TAC	p.Y1734Y	ARID1A_uc001bmu.1_Silent_p.Y1517Y|ARID1A_uc001bmx.1_Silent_p.Y580Y|ARID1A_uc009vsm.1_Silent_p.Y62Y|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1734					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Y1734*(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TAAAGGAGTATGAGGTGGGTG	0.488			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								C	27105591	T	C	27105591	2	2	27	1	0	0	0	0	0	0	0	1	913	1471	51	3		3	ARID1A	1	27105591	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	16803	27105591	222145030	123	24074											
ARID1A	8289	broad.mit.edu	37	chr1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-													tgctgcactggcggattggtGggggggacaccactgagcat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACA	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27105931	G	-	27105931	7	5	27	1	0	1	0	1	0	0	0	0	913	1348	47	0	5620	0	ARID1A	1	27105931	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	340	27105931	222144690	124	24075											
ZDHHC18	84243	broad.mit.edu	37	chr1	27176863	27176863	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actatcgcttcttctacgcgTttattctctccctctcattc	3	15	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:27176863T>C	uc001bnb.2	+	4	813	c.718T>C	c.(718-720)TTT>CTT	p.F240L	ZDHHC18_uc010ofh.1_Missense_Mutation_p.F105L	NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	240	Helical; (Potential).|DHHC-type.					integral to membrane	zinc ion binding				0		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		CTTCTACGCGTTTATTCTCTC	0.572													C	27176863	T	C	27176863	3	2	27	1	0	0	0	0	1	0	0	0	17605	1725	60	3	732	3	ZDHHC18	1	27176863	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	70932	27176863	222073758	125	24076											
GPATCH3	63906	broad.mit.edu	37	chr1	27218931	27218931	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcttgcatctggggtgttgGccatcactatccagggcctc	12	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:27218931G>T	uc001bne.2	-	6	1361	c.1332C>A	c.(1330-1332)GGC>GGA	p.G444G	GPN2_uc001bnd.1_5'Flank|GPATCH3_uc009vsp.1_Silent_p.G255G	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	G patch domain containing 3	444	G-patch.					intracellular	nucleic acid binding				0		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TGGGGTGTTGGCCATCACTAT	0.637													T	27218931	G	T	27218931	2	4	27	1	0	0	0	0	0	0	0	1	6592	1190	42	5		5	GPATCH3	1	27218931	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	42068	27218931	222031690	126	24077											
SLC9A1	6548	broad.mit.edu	37	chr1	27436202	27436202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgaagaagctcaggaagcCgaggaagatgtccacgatgc	13	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:27436202C>T	uc001bnm.2	-	3	1506	c.880G>A	c.(880-882)GGC>AGC	p.G294S	SLC9A1_uc010ofk.1_5'UTR|SLC9A1_uc001bnn.2_Missense_Mutation_p.G294S	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	294	Extracellular (Potential).				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CTCAGGAAGCCGAGGAAGATG	0.612													T	27436202	C	T	27436202	3	4	27	1	0	0	0	0	1	0	0	0	14709	652	23	1	1607	1	SLC9A1	1	27436202	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	217271	27436202	221814419	127	24078											
WDTC1	23038	broad.mit.edu	37	chr1	27627827	27627827	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctctttgagctcaagtAtgtggctgaagccctggagt	12	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:27627827A>G	uc009vst.2	+	13	1878	c.1343A>G	c.(1342-1344)TAT>TGT	p.Y448C	WDTC1_uc001bno.2_Missense_Mutation_p.Y447C|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Missense_Mutation_p.Y126C	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	448							protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GAGCTCAAGTATGTGGCTGAA	0.582											OREG0013280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	27627827	A	G	27627827	3	3	27	1	0	0	0	0	1	0	0	0	17339	449	16	3	1386	3	WDTC1	1	27627827	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	191625	27627827	221622794	128	24079											
MAP3K6	9064	broad.mit.edu	37	chr1	27688704	27688704	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taatactgcatcttctccacGcagcctttgcgggccagcag	9	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:27688704G>T	uc001bny.1	-	9	1542	c.1293C>A	c.(1291-1293)TGC>TGA	p.C431*	MAP3K6_uc009vsw.1_Nonsense_Mutation_p.C423*|MAP3K6_uc001bnz.1_5'Flank	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	431					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCTTCTCCACGCAGCCTTTGC	0.617													T	27688704	G	T	27688704	4	4	27	1	0	0	0	0	0	1	0	0	9254	1079	38	5	2657	5	MAP3K6	1	27688704	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	60877	27688704	221561917	129	24080											
DNAJC8	22826	broad.mit.edu	37	chr1	28530265	28530265	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggaaatttacctcaaagTttttctgccactctctttcc	4	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:28530265T>G	uc001bpn.2	-	8	665	c.632A>C	c.(631-633)AAC>ACC	p.N211T	DNAJC8_uc001bpo.2_RNA	NM_014280	NP_055095	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	211					nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		TACCTCAAAGTTTTTCTGCCA	0.463													G	28530265	T	G	28530265	3	3	27	1	0	0	0	0	1	0	0	0	4655	1725	60	5	137	5	DNAJC8	1	28530265	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	841561	28530265	220720356	130	24081											
SESN2	83667	broad.mit.edu	37	chr1	28598873	28598873	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agactggtggtgaccctgagTggctgctgggcctccaccgg	16	12	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:28598873T>C	uc001bps.2	+	4	786	c.433T>C	c.(433-435)TGG>CGG	p.W145R		NM_031459	NP_113647	P58004	SESN2_HUMAN	sestrin 2	145					cell cycle arrest	cytoplasm|nucleus				skin(3)|ovary(2)|pancreas(1)|lung(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		TGACCCTGAGTGGCTGCTGGG	0.617													C	28598873	T	C	28598873	3	2	27	1	0	0	0	0	1	0	0	0	14125	1696	59	3	447	3	SESN2	1	28598873	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	68608	28598873	220651748	131	24082											
SESN2	83667	broad.mit.edu	37	chr1	28607245	28607245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtccacgtgaacttgctgCtcctggaggcgcgcatgcaa	13	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:28607245C>T	uc001bps.2	+	10	1728	c.1375C>T	c.(1375-1377)CTC>TTC	p.L459F		NM_031459	NP_113647	P58004	SESN2_HUMAN	sestrin 2	459					cell cycle arrest	cytoplasm|nucleus				skin(3)|ovary(2)|pancreas(1)|lung(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GAACTTGCTGCTCCTGGAGGC	0.632													T	28607245	C	T	28607245	3	4	27	1	0	0	0	0	1	0	0	0	14125	797	28	2	1413	2	SESN2	1	28607245	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	8372	28607245	220643376	132	24083											
PHACTR4	65979	broad.mit.edu	37	chr1	28802790	28802790	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagatgaagaagatgaagaTgaaagctatcagagtaagaa	12	3	1	9			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:28802790T>C	uc001bpw.2	+	8	1875	c.1593T>C	c.(1591-1593)GAT>GAC	p.D531D	PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Silent_p.D515D|PHACTR4_uc001bpy.2_Silent_p.D541D	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1	531							actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AAGATGAAGATGAAAGCTATC	0.403													C	28802790	T	C	28802790	2	2	27	1	0	0	0	0	0	0	0	1	11812	1461	51	3		3	PHACTR4	1	28802790	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	195545	28802790	220447831	133	24084											
PHACTR4	65979	broad.mit.edu	37	chr1	28819589	28819589	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggaggttcatgaagagagCaaacattttacacggtaaga	11	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:28819589C>T	uc001bpw.2	+	13	2361	c.2079C>T	c.(2077-2079)AGC>AGT	p.S693S	PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Silent_p.S677S|PHACTR4_uc001bpy.2_Silent_p.S703S|PHACTR4_uc001bpz.2_RNA	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1	693							actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		ATGAAGAGAGCAAACATTTTA	0.378													T	28819589	C	T	28819589	2	4	27	1	0	0	0	0	0	0	0	1	11812	709	25	2		2	PHACTR4	1	28819589	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	16799	28819589	220431032	134	24085											
PHACTR4	65979	broad.mit.edu	37	chr1	28819605	28819605	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcaaacattttacacggTaagacccaaaagacccaatc	6	11	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:28819605T>G	uc001bpw.2	+	13	2375	c.2093_splice	c.e13+2	p.R698_splice	PHACTR4_uc001bpv.1_Splice_Site|PHACTR4_uc001bpx.2_Splice_Site_p.R682_splice|PHACTR4_uc001bpy.2_Splice_Site_p.R708_splice|PHACTR4_uc001bpz.2_Splice_Site	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1								actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTACACGGTAAGACCCAAA	0.363													G	28819605	T	G	28819605	5	3	27	1	0	0	0	0	0	0	1	0	11812	1652	57	5	2191	5	PHACTR4	1	28819605	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	16	28819605	220431016	135	24086											
OPRD1	4985	broad.mit.edu	37	chr1	29189408	29189408	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcctgcgcagtgtgcgCctgctgtcgggctccaagga	15	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:29189408C>T	uc001brf.1	+	3	974	c.732C>T	c.(730-732)CGC>CGT	p.R244R		NM_000911	NP_000902	P41143	OPRD_HUMAN	opioid receptor, delta 1	244	Cytoplasmic (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)	GCAGTGTGCGCCTGCTGTCGG	0.647													T	29189408	C	T	29189408	2	4	27	1	0	0	0	0	0	0	0	1	10884	726	26	2		2	OPRD1	1	29189408	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	369803	29189408	220061213	136	24087											
EPB41	2035	broad.mit.edu	37	chr1	29314014	29314014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccaacagaaggaagaggGtgaggaagccataaactcag	13	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:29314014G>A	uc001brm.1	+	1	72	c.65G>A	c.(64-66)GGT>GAT	p.G22D	EPB41_uc001brg.1_Translation_Start_Site|EPB41_uc001brh.1_Translation_Start_Site|EPB41_uc001bri.1_Missense_Mutation_p.G22D|EPB41_uc001brj.1_Translation_Start_Site|EPB41_uc009vtk.1_Missense_Mutation_p.G22D|EPB41_uc001brk.2_Missense_Mutation_p.G22D|EPB41_uc001brl.1_Missense_Mutation_p.G22D|EPB41_uc009vtl.1_Translation_Start_Site|EPB41_uc009vtm.1_Translation_Start_Site	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	22					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			ovary(1)	1		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AAGGAAGAGGGTGAGGAAGCC	0.448													A	29314014	G	A	29314014	3	1	27	1	0	0	0	0	1	0	0	0	5151	1261	44	4	67	4	EPB41	1	29314014	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	124606	29314014	219936607	137	24088											
SFRS4	6429	broad.mit.edu	37	chr1	29475243	29475243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcttcttgctgctgccCgccttgctgtctcgcttgct	8	15	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:29475243C>T	uc001bro.2	-	6	1537	c.1164G>A	c.(1162-1164)GCG>GCA	p.A388A	SFRS4_uc010ofy.1_3'UTR	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	splicing factor, arginine/serine-rich 4	388	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding				0		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)		TGCtgctgcccgccttgctgt	0.249													T	29475243	C	T	29475243	2	4	27	1	0	0	0	0	0	0	0	1	14179	639	23	1		1	SFRS4	1	29475243	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	161229	29475243	219775378	138	24089											
MECR	51102	broad.mit.edu	37	chr1	29522739	29522739	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacgacgggctgcttggccaTccccccataggttaccatgg	11	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:29522739T>C	uc001brq.1	-	8	898	c.862A>G	c.(862-864)ATG>GTG	p.M288V	MECR_uc001brp.1_Missense_Mutation_p.M212V|MECR_uc001brr.1_Missense_Mutation_p.M212V|MECR_uc001brs.1_RNA	NM_016011	NP_057095	Q9BV79	MECR_HUMAN	trans-2-enoyl-CoA reductase, mitochondrial	288					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			ovary(1)	1		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		TGCTTGGCCATCCCCCCATAG	0.602													C	29522739	T	C	29522739	3	2	27	1	0	0	0	0	1	0	0	0	9424	1435	50	3	271	3	MECR	1	29522739	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	47496	29522739	219727882	139	24090											
MECR	51102	broad.mit.edu	37	chr1	29542532	29542532	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctaaaccagcatttgCtggaatcacccagtctcctg	6	15	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:29542532C>A	uc001brq.1	-	3	427	c.391G>T	c.(391-393)GCA>TCA	p.A131S	MECR_uc001brp.1_Missense_Mutation_p.A55S|MECR_uc001brr.1_Missense_Mutation_p.A55S|MECR_uc001brs.1_RNA|MECR_uc001brt.1_Missense_Mutation_p.A55S|MECR_uc010ofz.1_Missense_Mutation_p.A131S	NM_016011	NP_057095	Q9BV79	MECR_HUMAN	trans-2-enoyl-CoA reductase, mitochondrial	131					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			ovary(1)	1		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		CCAGCATTTGCTGGAATCACC	0.547													A	29542532	C	A	29542532	3	1	27	1	0	0	0	0	1	0	0	0	9424	797	28	5	762	5	MECR	1	29542532	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	19793	29542532	219708089	140	24091											
PTPRU	10076	broad.mit.edu	37	chr1	29611288	29611288	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cctggaggtgtcccagagatCggaggagatggggcttatcc	16	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:29611288C>A	uc001bru.2	+	14	2335	c.2225C>A	c.(2224-2226)TCG>TAG	p.S742*	PTPRU_uc001brv.2_Nonsense_Mutation_p.S742*|PTPRU_uc001brw.2_Nonsense_Mutation_p.S742*|PTPRU_uc009vtq.2_Nonsense_Mutation_p.S742*|PTPRU_uc009vtr.2_Nonsense_Mutation_p.S742*	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	742	Extracellular (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TCCCAGAGATCGGAGGAGATG	0.582													A	29611288	C	A	29611288	4	1	27	1	0	0	0	0	0	1	0	0	12813	893	31	5	2279	5	PTPRU	1	29611288	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	68756	29611288	219639333	141	24092											
PTPRU	10076	broad.mit.edu	37	chr1	29618439	29618439	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccaggagaagacacacatgAtgagcgccgtggaccgcagc	14	12	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:29618439A>T	uc001bru.2	+	16	2517	c.2407A>T	c.(2407-2409)ATG>TTG	p.M803L	PTPRU_uc001brv.2_Missense_Mutation_p.M793L|PTPRU_uc001brw.2_Missense_Mutation_p.M793L|PTPRU_uc009vtq.2_Missense_Mutation_p.M793L|PTPRU_uc009vtr.2_Missense_Mutation_p.M793L	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	803	Mediates interaction with CTNNB1 (By similarity).|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GACACACATGATGAGCGCCGT	0.632													T	29618439	A	T	29618439	3	4	27	1	0	0	0	0	1	0	0	0	12813	333	12	5	2469	5	PTPRU	1	29618439	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	7151	29618439	219632182	142	24093											
PUM1	9698	broad.mit.edu	37	chr1	31479866	31479866	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttccccaggcactgtctcgCcattgatcacccaggaatat	8	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:31479866C>T	uc001bsi.1	-	4	629	c.516G>A	c.(514-516)TGG>TGA	p.W172*	PUM1_uc001bsg.1_5'Flank|PUM1_uc001bsh.1_Nonsense_Mutation_p.W172*|PUM1_uc001bsj.1_Nonsense_Mutation_p.W172*|PUM1_uc010oga.1_Intron|PUM1_uc001bsk.1_Nonsense_Mutation_p.W208*|PUM1_uc010ogb.1_Intron	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	172					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CACTGTCTCGCCATTGATCAC	0.423													T	31479866	C	T	31479866	4	4	27	1	0	0	0	0	0	1	0	0	12825	740	26	2	3126	2	PUM1	1	31479866	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1861427	31479866	217770755	143	24094											
BAI2	576	broad.mit.edu	37	chr1	32222059	32222059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcctcctcttctggccGccccacctctgactccgcct	6	22	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:32222059G>A	uc001btn.2	-	4	733	c.379C>T	c.(379-381)CGG>TGG	p.R127W	BAI2_uc010ogp.1_Missense_Mutation_p.R115W|BAI2_uc010ogq.1_Missense_Mutation_p.R127W|BAI2_uc001bto.2_Missense_Mutation_p.R127W|BAI2_uc001btq.1_Missense_Mutation_p.R115W|BAI2_uc010ogr.1_Missense_Mutation_p.R115W	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	127	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TCTTCTGGCCGCCCCACCTCT	0.672													A	32222059	G	A	32222059	3	1	27	1	0	0	0	0	1	0	0	0	1299	1086	38	1	4498	1	BAI2	1	32222059	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	742193	32222059	217028562	144	24095											
KHDRBS1	10657	broad.mit.edu	37	chr1	32503449	32503449	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgtaggggccgtggtgttGgaccacctcggggggctttg	18	8	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:32503449G>T	uc001bub.2	+	6	1025	c.919G>T	c.(919-921)GGA>TGA	p.G307*	KHDRBS1_uc001bua.1_Nonsense_Mutation_p.G268*|KHDRBS1_uc001buc.1_RNA	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal	307	Arg/Gly-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCGTGGTGTTGGACCACCTCG	0.488													T	32503449	G	T	32503449	4	4	27	1	0	0	0	0	0	1	0	0	8146	1349	47	5	941	5	KHDRBS1	1	32503449	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	281390	32503449	216747172	145	24096											
KPNA6	23633	broad.mit.edu	37	chr1	32635510	32635510	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctcactgggctgcatcaaAcccctatgtgacttgctgac	9	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:32635510A>G	uc001bug.2	+	13	1360	c.1272A>G	c.(1270-1272)AAA>AAG	p.K424K	KPNA6_uc001buh.2_Silent_p.K199K|KPNA6_uc010ogx.1_Silent_p.K421K|KPNA6_uc010ogy.1_Silent_p.K429K|KPNA6_uc009vtz.2_Silent_p.K319K	NM_012316	NP_036448	O60684	IMA7_HUMAN	karyopherin alpha 6	424	ARM 9.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCTGCATCAAACCCCTATGTG	0.537													G	32635510	A	G	32635510	2	3	27	1	0	0	0	0	0	0	0	1	8434	40	2	3		3	KPNA6	1	32635510	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	132061	32635510	216615111	146	24097											
EIF3I	8668	broad.mit.edu	37	chr1	32696575	32696575	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttggaagagtcaagggtcActttggacctatcaacagtg	12	7	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:32696575A>G	uc001bur.3	+	11	1384	c.851A>G	c.(850-852)CAC>CGC	p.H284R	EIF3I_uc009vuc.2_Missense_Mutation_p.H284R|EIF3I_uc001bus.2_Missense_Mutation_p.H236R	NM_003757	NP_003748	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3,	284	WD 5.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				GTCAAGGGTCACTTTGGACCT	0.468													G	32696575	A	G	32696575	3	3	27	1	0	0	0	0	1	0	0	0	5019	159	6	3	889	3	EIF3I	1	32696575	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	61065	32696575	216554046	147	24098											
TSSK3	81629	broad.mit.edu	37	chr1	32829415	32829415	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcagatggttgaggccaTccgctactgccatggctgtg	13	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:32829415T>C	uc001bvf.2	+	2	806	c.365T>C	c.(364-366)ATC>ACC	p.I122T	uc001bve.1_5'Flank	NM_052841	NP_443073	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	122	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				GTTGAGGCCATCCGCTACTGC	0.602													C	32829415	T	C	32829415	3	2	27	1	0	0	0	0	1	0	0	0	16667	1435	50	3	371	3	TSSK3	1	32829415	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	132840	32829415	216421206	148	24099											
RBBP4	5928	broad.mit.edu	37	chr1	33134616	33134616	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccgttccaaaggagggaaAagtggtagatgcgaagacca	14	7	0	2	rs77147900		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:33134616A>G	uc001bvr.2	+	6	803	c.644A>G	c.(643-645)AAA>AGA	p.K215R	RBBP4_uc001bvs.2_Missense_Mutation_p.K214R|RBBP4_uc010ohj.1_5'UTR|RBBP4_uc010ohk.1_Missense_Mutation_p.K180R	NM_005610	NP_005601	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4 isoform a	215					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AAGGAGGGAAAAGTGGTAGAT	0.453													G	33134616	A	G	33134616	3	3	27	1	0	0	0	0	1	0	0	0	13101	14	1	3	666	3	RBBP4	1	33134616	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	305201	33134616	216116005	149	24100											
KIAA1522	57648	broad.mit.edu	37	chr1	33237888	33237888	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgggagtccccccaccCgcctcccccagttaccctcg	8	21	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:33237888C>A	uc001bvv.2	+	6	3067	c.2931C>A	c.(2929-2931)CCC>CCA	p.P977P	KIAA1522_uc001bvu.1_Silent_p.P1036P|KIAA1522_uc010ohm.1_Silent_p.P988P|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	977	Pro-rich.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TCCCCCCACCCGCCTCCCCCA	0.657													A	33237888	C	A	33237888	2	1	27	1	0	0	0	0	0	0	0	1	8238	639	23	5		5	KIAA1522	1	33237888	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	103272	33237888	216012733	150	24101											
CSMD2	114784	broad.mit.edu	37	chr1	34015866	34015866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtacgcttgccgatgcagCtgtaccgcaccactgctccc	10	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:34015866C>T	uc001bxn.1	-	55	8425	c.8396G>A	c.(8395-8397)AGC>AAC	p.S2799N	CSMD2_uc001bxm.1_Missense_Mutation_p.S2943N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2799	Sushi 19.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCGATGCAGCTGTACCGCAC	0.602													T	34015866	C	T	34015866	3	4	27	1	0	0	0	0	1	0	0	0	3945	797	28	2	2127	2	CSMD2	1	34015866	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	777978	34015866	215234755	151	24102											
CSMD2	114784	broad.mit.edu	37	chr1	34035106	34035106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagacagtgttccgatgcGgtggccattggggggaatcg	17	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:34035106G>A	uc001bxn.1	-	53	8034	c.8005C>T	c.(8005-8007)CGC>TGC	p.R2669C	CSMD2_uc001bxm.1_Missense_Mutation_p.R2667C	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2669	Sushi 17.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTTCCGATGCGGTGGCCATTG	0.567													A	34035106	G	A	34035106	3	1	27	1	0	0	0	0	1	0	0	0	3945	1116	39	1	2526	1	CSMD2	1	34035106	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	19240	34035106	215215515	152	24103											
CSMD2	114784	broad.mit.edu	37	chr1	34071528	34071528	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggagttgagttggttcttTccaactccgagagatcaaaa	11	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:34071528T>C	uc001bxn.1	-	42	6313	c.6284A>G	c.(6283-6285)GAA>GGA	p.E2095G	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxo.1_Intron	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2095	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTTGGTTCTTTCCAACTCCGA	0.393													C	34071528	T	C	34071528	3	2	27	1	0	0	0	0	1	0	0	0	3945	1783	62	3	4291	3	CSMD2	1	34071528	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	36422	34071528	215179093	153	24104											
CSMD2	114784	broad.mit.edu	37	chr1	34180353	34180353	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggctgggacctcgggctcCtcacagggctccaagtcgta	13	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:34180353C>A	uc001bxn.1	-	21	3149	c.3120G>T	c.(3118-3120)GAG>GAT	p.E1040D	CSMD2_uc001bxm.1_Missense_Mutation_p.E1080D	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1040	Sushi 6.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTCGGGCTCCTCACAGGGCT	0.597													A	34180353	C	A	34180353	3	1	27	1	0	0	0	0	1	0	0	0	3945	680	24	5	7539	5	CSMD2	1	34180353	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	108825	34180353	215070268	154	24105											
CSMD2	114784	broad.mit.edu	37	chr1	34254222	34254222	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcataagaagccttgaatcCcagggaactgccactgccat	8	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:34254222C>A	uc001bxn.1	-	12	1551	c.1522G>T	c.(1522-1524)GGA>TGA	p.G508*	CSMD2_uc001bxm.1_Nonsense_Mutation_p.G548*	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	508	CUB 3.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCTTGAATCCCAGGGAACTG	0.428													A	34254222	C	A	34254222	4	1	27	1	0	0	0	0	0	1	0	0	3945	632	22	5	9173	5	CSMD2	1	34254222	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	73869	34254222	214996399	155	24106											
C1orf94	84970	broad.mit.edu	37	chr1	34667751	34667751	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggaatgttttcactccacActttcctacagccatgacct	6	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:34667751A>G	uc001bxs.3	+	4	1166	c.767A>G	c.(766-768)CAC>CGC	p.H256R	C1orf94_uc001bxt.2_Missense_Mutation_p.H446R	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	256							protein binding				0		Myeloproliferative disorder(586;0.0393)				TTCACTCCACACTTTCCTACA	0.517													G	34667751	A	G	34667751	3	3	27	1	0	0	0	0	1	0	0	0	2071	159	6	3	1351	3	C1orf94	1	34667751	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	413529	34667751	214582870	156	24107											
GJB3	2707	broad.mit.edu	37	chr1	35250919	35250919	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgacctaccgagaagaaaAtcttcacctacttcatggtg	7	13	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:35250919A>G	uc001bxx.2	+	2	1171	c.556A>G	c.(556-558)ATC>GTC	p.I186V	GJB3_uc001bxy.2_Missense_Mutation_p.I186V|GJB3_uc001bxz.3_Missense_Mutation_p.I186V|uc010ohs.1_RNA	NM_024009	NP_076872	O75712	CXB3_HUMAN	connexin 31	186	Extracellular (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CGAGAAGAAAATCTTCACCTA	0.597													G	35250919	A	G	35250919	3	3	27	1	0	0	0	0	1	0	0	0	6409	101	4	3	558	3	GJB3	1	35250919	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	583168	35250919	213999702	157	24108											
DLGAP3	58512	broad.mit.edu	37	chr1	35332721	35332721	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacttgagggtcacatcctcGatggagagctgtaggaggtc	14	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:35332721G>A	uc001byc.2	-	9	2649	c.2649C>T	c.(2647-2649)ATC>ATT	p.I883I		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	883					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				TCACATCCTCGATGGAGAGCT	0.582											OREG0013353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	35332721	G	A	35332721	2	1	27	1	0	0	0	0	0	0	0	1	4561	1048	37	1		1	DLGAP3	1	35332721	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	81802	35332721	213917900	158	24109											
DLGAP3	58512	broad.mit.edu	37	chr1	35370394	35370394	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcttccctcagccttgggCccattatagtcccgcttccc	6	19	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:35370394C>T	uc001byc.2	-	1	591	c.591G>A	c.(589-591)GGG>GGA	p.G197G		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	197					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				CAGCCTTGGGCCCATTATAGT	0.562													T	35370394	C	T	35370394	2	4	27	1	0	0	0	0	0	0	0	1	4561	726	26	2		2	DLGAP3	1	35370394	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	37673	35370394	213880227	159	24110											
CLSPN	63967	broad.mit.edu	37	chr1	36203686	36203686	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttcagctgtaatttTcccctgctgtgcctgaaaaa	6	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:36203686T>C	uc001bzi.2	-	22	3651	c.3571A>G	c.(3571-3573)AAA>GAA	p.K1191E	CLSPN_uc009vux.2_Missense_Mutation_p.K1127E	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	claspin	1191					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCTGTAATTTTCCCCTGCTGT	0.348													C	36203686	T	C	36203686	3	2	27	1	0	0	0	0	1	0	0	0	3560	1792	62	3	464	3	CLSPN	1	36203686	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	833292	36203686	213046935	160	24111											
COL8A2	1296	broad.mit.edu	37	chr1	36563431	36563431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagcaaagtagtagacgccGcccacagggcaggtgaagat	13	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:36563431G>A	uc001bzv.1	-	2	1858	c.1851C>T	c.(1849-1851)GGC>GGT	p.G617G	COL8A2_uc001bzw.1_Silent_p.G552G	NM_005202	NP_005193	P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2 precursor	617	C1q.|Nonhelical region (NC1).				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTAGACGCCGCCCACAGGGC	0.587													A	36563431	G	A	36563431	2	1	27	1	0	0	0	0	0	0	0	1	3706	1074	38	1		1	COL8A2	1	36563431	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	359745	36563431	212687190	161	24112											
MAP7D1	55700	broad.mit.edu	37	chr1	36645561	36645561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaatggcttctccaccaacgGaccctctggggacaagagtc	11	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:36645561G>A	uc001bzz.2	+	16	2624	c.2408G>A	c.(2407-2409)GGA>GAA	p.G803E	MAP7D1_uc001caa.2_Missense_Mutation_p.G770E|MAP7D1_uc001cab.2_Missense_Mutation_p.G765E|MAP7D1_uc001cac.2_Missense_Mutation_p.G502E|MAP7D1_uc001cad.2_Missense_Mutation_p.G339E	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	803						cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)				TCCACCAACGGACCCTCTGGG	0.597													A	36645561	G	A	36645561	3	1	27	1	0	0	0	0	1	0	0	0	9267	1174	41	4	2470	4	MAP7D1	1	36645561	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	82130	36645561	212605060	162	24113											
THRAP3	9967	broad.mit.edu	37	chr1	36755361	36755361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcttttgatgaggacctcGcacggtgagatatgctcctt	10	10	1	3	rs143670803	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:36755361G>A	uc001cae.3	+	5	1965	c.1741G>A	c.(1741-1743)GCA>ACA	p.A581T	THRAP3_uc001caf.3_Missense_Mutation_p.A581T|THRAP3_uc001cag.1_Missense_Mutation_p.A581T	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	581					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGAGGACCTCGCACGGTGAGA	0.517			T	USP6	aneurysmal bone cysts								A	36755361	G	A	36755361	3	1	27	1	0	0	0	0	1	0	0	0	15871	1087	38	1	1751	1	THRAP3	1	36755361	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	109800	36755361	212495260	163	24114											
THRAP3	9967	broad.mit.edu	37	chr1	36757116	36757116	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagaactgtttgcccaAcatatagtgaccattgttca	6	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:36757116A>G	uc001cae.3	+	6	2111	c.1887A>G	c.(1885-1887)CAA>CAG	p.Q629Q	THRAP3_uc001caf.3_Silent_p.Q629Q	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	629					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGTTTGCCCAACATATAGTGA	0.468			T	USP6	aneurysmal bone cysts								G	36757116	A	G	36757116	2	3	27	1	0	0	0	0	0	0	0	1	15871	40	2	3		3	THRAP3	1	36757116	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1755	36757116	212493505	164	24115											
THRAP3	9967	broad.mit.edu	37	chr1	36769439	36769439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgacaagtgggtgagcCggggccggggccgaggagcc	21	10	0	2	rs141044799		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:36769439C>T	uc001cae.3	+	12	2913	c.2689C>T	c.(2689-2691)CGG>TGG	p.R897W	THRAP3_uc001caf.3_Missense_Mutation_p.R897W|C1orf113_uc010oia.1_5'Flank	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	897					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTGGGTGAGCCGGGGCCGGGG	0.592			T	USP6	aneurysmal bone cysts								T	36769439	C	T	36769439	3	4	27	1	0	0	0	0	1	0	0	0	15871	643	23	1	2727	1	THRAP3	1	36769439	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	12323	36769439	212481182	165	24116											
C1orf113	79729	broad.mit.edu	37	chr1	36785374	36785374	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcccccagctccagagaaCgcccccagctccaagaagat	9	17	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:36785374C>T	uc010oia.1	+	14	1138	c.1110C>T	c.(1108-1110)AAC>AAT	p.N370N	C1orf113_uc010oib.1_Silent_p.N259N|C1orf113_uc010oic.1_RNA|C1orf113_uc009vuz.1_Silent_p.N16N	NM_001162530	NP_001156002	A4FU49	SH321_HUMAN	SH3 domain-containing protein C1orf113 isoform	254											0		Myeloproliferative disorder(586;0.0393)				CTCCAGAGAACGCCCCCAGCT	0.622													T	36785374	C	T	36785374	2	4	27	1	0	0	0	0	0	0	0	1	1986	535	19	1		1	C1orf113	1	36785374	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	15935	36785374	212465247	166	24117											
CSF3R	1441	broad.mit.edu	37	chr1	36935323	36935323	+	Frame_Shift_Del	DEL	G	G	-													ttgttgctattgctcgcgctGggggggcccaggccccactc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:36935322_36935322TG>T	uc001caw.2	-	10	1989	c.1405_1405CA>A	c.(1405-1407)agcfs	p.S469fs	CSF3R_uc001cav.2_Frame_Shift_Del_p.S469fs|CSF3R_uc001cax.2_Frame_Shift_Del_p.S469fs	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	469	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCC	0.637													-	36935323	G	-	36935323	7	5	27	1	0	1	0	1	0	0	0	0	3937	1335	47	0	1324	0	CSF3R	1	36935323	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	149949	36935323	212315298	167	24118											
GRIK3	2899	broad.mit.edu	37	chr1	37346307	37346307	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtcgaggatggcatggcTgagcgaggcgtagtcggggt	20	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:37346307T>C	uc001caz.2	-	3	613	c.478A>G	c.(478-480)AGC>GGC	p.S160G	GRIK3_uc001cba.1_Missense_Mutation_p.S160G	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	160	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	ATGGCATGGCTGAGCGAGGCG	0.627													C	37346307	T	C	37346307	3	2	27	1	0	0	0	0	1	0	0	0	6775	1580	55	3	2337	3	GRIK3	1	37346307	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	410984	37346307	211904314	168	24119											
MEAF6	64769	broad.mit.edu	37	chr1	37975066	37975066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactacttacagctgctgagGtaaccgaggatttactgaag	10	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:37975066G>A	uc001cbg.1	-	3	301	c.284C>T	c.(283-285)ACC>ATC	p.T95I	MEAF6_uc001cbd.1_Missense_Mutation_p.T73I|MEAF6_uc001cbe.1_Missense_Mutation_p.T95I|MEAF6_uc009vvd.1_RNA|MEAF6_uc001cbf.1_RNA|MEAF6_uc001cbh.1_Missense_Mutation_p.T95I	NM_022756	NP_073593	Q9HAF1	EAF6_HUMAN	MYST/Esa1-associated factor 6	95					histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus	protein binding				0						AGCTGCTGAGGTAACCGAGGA	0.448													A	37975066	G	A	37975066	3	1	27	1	0	0	0	0	1	0	0	0	9421	1261	44	4	345	4	MEAF6	1	37975066	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	628759	37975066	211275555	169	24120											
SNIP1	79753	broad.mit.edu	37	chr1	38006093	38006093	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgagactcactgccgccAccaccaacgtcattcctctg	6	18	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:38006093A>G	uc001cbi.2	-	3	664	c.591T>C	c.(589-591)GGT>GGC	p.G197G	SNIP1_uc010oid.1_Intron	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	197					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			upper_aerodigestive_tract(1)|lung(1)	2		Myeloproliferative disorder(586;0.0393)				CACTGCCGCCACCACCAACGT	0.542													G	38006093	A	G	38006093	2	3	27	1	0	0	0	0	0	0	0	1	14848	146	6	3		3	SNIP1	1	38006093	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	31027	38006093	211244528	170	24121											
DNALI1	7802	broad.mit.edu	37	chr1	38023220	38023220	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggctcggctactgaaagTcagcccccagcagcctggac	11	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:38023220T>C	uc001cbj.2	+	2	174	c.164T>C	c.(163-165)GTC>GCC	p.V55A	DNALI1_uc010oie.1_RNA	NM_003462	NP_003453	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	33					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTACTGAAAGTCAGCCCCCAG	0.567													C	38023220	T	C	38023220	3	2	27	1	0	0	0	0	1	0	0	0	4659	1667	58	3	170	3	DNALI1	1	38023220	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	17127	38023220	211227401	171	24122											
GNL2	29889	broad.mit.edu	37	chr1	38048476	38048476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtttcaatgtgaggggaaCgagtacccattggatctcta	11	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:38048476C>T	uc001cbk.2	-	7	861	c.698G>A	c.(697-699)CGT>CAT	p.R233H	GNL2_uc010oif.1_Missense_Mutation_p.R74H	NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	233					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)				GTGAGGGGAACGAGTACCCAT	0.393													T	38048476	C	T	38048476	3	4	27	1	0	0	0	0	1	0	0	0	6536	536	19	1	1537	1	GNL2	1	38048476	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	25256	38048476	211202145	172	24123											
GNL2	29889	broad.mit.edu	37	chr1	38053053	38053053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgacttagggccaaatGtagtttcaaaactttcagta	8	7	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:38053053G>A	uc001cbk.2	-	5	591	c.428C>T	c.(427-429)ACA>ATA	p.T143I	GNL2_uc010oif.1_5'UTR|GNL2_uc009vve.2_Intron	NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	143					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)				AGGGCCAAATGTAGTTTCAAA	0.378													A	38053053	G	A	38053053	3	1	27	1	0	0	0	0	1	0	0	0	6536	1377	48	4	1815	4	GNL2	1	38053053	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4577	38053053	211197568	173	24124											
MANEAL	149175	broad.mit.edu	37	chr1	38265387	38265387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccattcgatccgcaacacgCcctacgatggggtcttcata	8	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:38265387C>T	uc001cby.2	+	4	967	c.886C>T	c.(886-888)CCC>TCC	p.P296S	MANEAL_uc001cbx.2_Intron|MANEAL_uc001cbz.2_Missense_Mutation_p.P74S	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like isoform 3	296	Lumenal (Potential).					Golgi membrane|integral to membrane	hydrolase activity				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCGCAACACGCCCTACGATGG	0.592													T	38265387	C	T	38265387	3	4	27	1	0	0	0	0	1	0	0	0	9222	739	26	2	900	2	MANEAL	1	38265387	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	212334	38265387	210985234	174	24125											
FHL3	2275	broad.mit.edu	37	chr1	38463130	38463130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttggtctccatccggtaCgaagccctggcccaccaggg	11	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:38463130C>T	uc001ccj.2	-	6	877	c.790G>A	c.(790-792)GTA>ATA	p.V264I	FHL3_uc001cck.2_Missense_Mutation_p.V264I|FHL3_uc001ccl.2_Silent_p.S262S|FHL3_uc001ccm.2_Missense_Mutation_p.V156I	NM_004468	NP_004459	Q13643	FHL3_HUMAN	four and a half LIM domains 3	264	LIM zinc-binding 4.				muscle organ development		zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCATCCGGTACGAAGCCCTGG	0.632													T	38463130	C	T	38463130	3	4	27	1	0	0	0	0	1	0	0	0	5880	536	19	1	56	1	FHL3	1	38463130	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	197743	38463130	210787491	175	24126											
GJA9	81025	broad.mit.edu	37	chr1	39340945	39340945	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggggcagaagggagtcgctTcagtgaatttgcagatgtgc	16	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:39340945T>C	uc001cct.1	-	2	1107	c.826A>G	c.(826-828)AAG>GAG	p.K276E	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	NM_030772	NP_110399	P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	276	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane					0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GGGAGTCGCTTCAGTGAATTT	0.393													C	39340945	T	C	39340945	3	2	27	1	0	0	0	0	1	0	0	0	6406	1792	62	3	725	3	GJA9	1	39340945	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	877815	39340945	209909676	176	24127											
GJA9	81025	broad.mit.edu	37	chr1	39341489	39341489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtcggtacaatgcatgGcccatgtagaccagggatgg	13	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:39341489G>A	uc001cct.1	-	2	563	c.282C>T	c.(280-282)GGC>GGT	p.G94G	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	NM_030772	NP_110399	P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	94	Helical; (Potential).				cell communication	connexon complex|integral to membrane					0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			ACAATGCATGGCCCATGTAGA	0.473													A	39341489	G	A	39341489	2	1	27	1	0	0	0	0	0	0	0	1	6406	1190	42	2		2	GJA9	1	39341489	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	544	39341489	209909132	177	24128											
MACF1	23499	broad.mit.edu	37	chr1	39765892	39765892	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cattttgtaggatgaaaaggAgcagcttatacagtccaaga	10	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:39765892A>T	uc010ois.1	+	23	2712	c.2507A>T	c.(2506-2508)GAG>GTG	p.E836V	MACF1_uc001cda.1_Missense_Mutation_p.E744V|MACF1_uc001cdc.1_5'UTR|MACF1_uc009vvq.1_5'UTR|MACF1_uc001cdb.1_5'UTR	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	836					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GATGAAAAGGAGCAGCTTATA	0.413													T	39765892	A	T	39765892	3	4	27	1	0	0	0	0	1	0	0	0	9144	304	11	5	2589	5	MACF1	1	39765892	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	424403	39765892	209484729	178	24129											
MACF1	23499	broad.mit.edu	37	chr1	39796951	39796951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaaagccatgcaaaaggGcctccttgaccaagacacag	8	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:39796951G>A	uc010oiu.1	+	1	142	c.11G>A	c.(10-12)GGC>GAC	p.G4D	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1569					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGCAAAAGGGCCTCCTTGAC	0.458													A	39796951	G	A	39796951	3	1	27	1	0	0	0	0	1	0	0	0	9144	1203	42	2	4782	2	MACF1	1	39796951	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	31059	39796951	209453670	179	24130											
MACF1	23499	broad.mit.edu	37	chr1	39798124	39798124	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagcaagagccaccctaaggCcacagcaagccagagtgaga	11	13	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:39798124C>G	uc010oiu.1	+	1	1315	c.1184C>G	c.(1183-1185)GCC>GGC	p.A395G	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1960					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CACCCTAAGGCCACAGCAAGC	0.468													G	39798124	C	G	39798124	3	3	27	1	0	0	0	0	1	0	0	0	9144	739	26	5	5955	5	MACF1	1	39798124	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1173	39798124	209452497	180	24131											
MACF1	23499	broad.mit.edu	37	chr1	39844182	39844182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggcagtgtaaacggataCcacacctgcaaaggtgagaa	12	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:39844182C>T	uc010oiu.1	+	17	8714	c.8583C>T	c.(8581-8583)TAC>TAT	p.Y2861Y	MACF1_uc010ois.1_Silent_p.Y2359Y|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4426					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAAACGGATACCACACCTGCA	0.463													T	39844182	C	T	39844182	2	4	27	1	0	0	0	0	0	0	0	1	9144	518	18	4		4	MACF1	1	39844182	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	46058	39844182	209406439	181	24132											
MACF1	23499	broad.mit.edu	37	chr1	39854290	39854290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccagtgggtagtggggaCcgaagtggaaatcatcaacc	13	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:39854290C>T	uc010oiu.1	+	22	11227	c.11096C>T	c.(11095-11097)ACC>ATC	p.T3699I	MACF1_uc010ois.1_Missense_Mutation_p.T3197I|MACF1_uc001cda.1_Missense_Mutation_p.T3084I|MACF1_uc001cdc.1_Missense_Mutation_p.T2263I	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	5264	Spectrin 6.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTAGTGGGGACCGAAGTGGAA	0.433													T	39854290	C	T	39854290	3	4	27	1	0	0	0	0	1	0	0	0	9144	507	18	4	15951	4	MACF1	1	39854290	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	10108	39854290	209396331	182	24133											
KIAA0754	643314	broad.mit.edu	37	chr1	39879803	39879803	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagcagctgcagtgtccaAcctagaggagcccgcctccc	10	18	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:39879803A>G	uc009vvt.1	+	1	4628	c.3866A>G	c.(3865-3867)AAC>AGC	p.N1289S	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	1153	Ala-rich.										0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCAGTGTCCAACCTAGAGGAG	0.667													G	39879803	A	G	39879803	3	3	27	1	0	0	0	0	1	0	0	0	8192	43	2	3	3868	3	KIAA0754	1	39879803	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	25513	39879803	209370818	183	24134											
MYCL1	4610	broad.mit.edu	37	chr1	40363565	40363565	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatccagggggtctgctcGcaccgtgatggtgaccggct	17	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:40363565G>A	uc001cer.1	-	3	791	c.574C>T	c.(574-576)CGA>TGA	p.R192*	MYCL1_uc001ces.1_Nonsense_Mutation_p.R192*	NM_001033082	NP_001028254	P12524	MYCL1_HUMAN	l-myc-1 proto-oncogene isoform 1	192						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|liver(1)	2	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGGTCTGCTCGCACCGTGATG	0.507			A		small cell lung 								A	40363565	G	A	40363565	4	1	27	1	0	0	0	0	0	1	0	0	10020	1095	38	1	524	1	MYCL1	1	40363565	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	483762	40363565	208887056	184	24135											
CAP1	10487	broad.mit.edu	37	chr1	40535427	40535427	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccctgaaggctcagagtggtCcagtacgcagtggccccaaa	12	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:40535427C>A	uc001cfa.3	+	9	1103	c.874C>A	c.(874-876)CCA>ACA	p.P292T	CAP1_uc001cey.3_Missense_Mutation_p.P292T|CAP1_uc001cez.3_Missense_Mutation_p.P292T|CAP1_uc009vvz.2_Missense_Mutation_p.P292T|CAP1_uc010oje.1_Missense_Mutation_p.P209T	NM_006367	NP_006358	Q01518	CAP1_HUMAN	adenylyl cyclase-associated protein	292					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			ovary(1)	1	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCAGAGTGGTCCAGTACGCAG	0.517													A	40535427	C	A	40535427	3	1	27	1	0	0	0	0	1	0	0	0	2619	855	30	5	904	5	CAP1	1	40535427	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	171862	40535427	208715194	185	24136											
RLF	6018	broad.mit.edu	37	chr1	40703531	40703531	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccatttgtgcttctaaaAggccctgtacagaggatacc	8	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:40703531A>C	uc001cfc.3	+	8	3188	c.3157A>C	c.(3157-3159)AGG>CGG	p.R1053R	RLF_uc001cfd.3_Silent_p.R744R	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1053					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TGCTTCTAAAAGGCCCTGTAC	0.393													C	40703531	A	C	40703531	2	2	27	1	0	0	0	0	0	0	0	1	13389	63	3	5		5	RLF	1	40703531	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	168104	40703531	208547090	186	24137											
ZMPSTE24	10269	broad.mit.edu	37	chr1	40747087	40747087	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caagcgaatagttttgtttgAcactctactagaagagtact	8	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:40747087A>T	uc001cfg.2	+	7	1053	c.842A>T	c.(841-843)GAC>GTC	p.D281V		NM_005857	NP_005848	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	281						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity				0	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			GTTTTGTTTGACACTCTACTA	0.403													T	40747087	A	T	40747087	3	4	27	1	0	0	0	0	1	0	0	0	17695	275	10	5	868	5	ZMPSTE24	1	40747087	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	43556	40747087	208503534	187	24138											
SMAP2	64744	broad.mit.edu	37	chr1	40879909	40879909	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcatggatttgttgggcCttggtaagagttggactttt	13	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:40879909C>A	uc001cfj.2	+	6	633	c.568C>A	c.(568-570)CTT>ATT	p.L190I	SMAP2_uc010ojh.1_Missense_Mutation_p.L190I|SMAP2_uc001cfk.2_Missense_Mutation_p.L160I|SMAP2_uc010oji.1_Missense_Mutation_p.L107I|SMAP2_uc010ojj.1_Missense_Mutation_p.L6I	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	190	Interaction with clathrin heavy chains (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			TTTGTTGGGCCTTGGTAAGAG	0.433													A	40879909	C	A	40879909	3	1	27	1	0	0	0	0	1	0	0	0	14767	681	24	5	590	5	SMAP2	1	40879909	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	132822	40879909	208370712	188	24139											
SMAP2	64744	broad.mit.edu	37	chr1	40881883	40881883	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaactgcagggagtgccggCtctgttcctgaaaatctgaa	11	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:40881883C>T	uc001cfj.2	+	8	782	c.717C>T	c.(715-717)GGC>GGT	p.G239G	SMAP2_uc010ojh.1_Silent_p.G239G|SMAP2_uc001cfk.2_Silent_p.G209G|SMAP2_uc010oji.1_Silent_p.G156G|SMAP2_uc010ojj.1_Silent_p.G55G	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	239					regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			GGAGTGCCGGCTCTGTTCCTG	0.498													T	40881883	C	T	40881883	2	4	27	1	0	0	0	0	0	0	0	1	14767	784	28	2		2	SMAP2	1	40881883	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1974	40881883	208368738	189	24140											
DEM1	64789	broad.mit.edu	37	chr1	40981037	40981037	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgggtgacctcatggaacTtgtcttcttgtctctaacac	8	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:40981037T>C	uc001cfp.2	+	3	1026	c.821T>C	c.(820-822)CTT>CCT	p.L274P	DEM1_uc001cfq.2_Missense_Mutation_p.L274P|DEM1_uc001cfr.2_Missense_Mutation_p.L274P|DEM1_uc001cfs.2_Missense_Mutation_p.L274P	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	defects in morphology 1 homolog	274							DNA binding|exonuclease activity				0						CTCATGGAACTTGTCTTCTTG	0.483													C	40981037	T	C	40981037	3	2	27	1	0	0	0	0	1	0	0	0	4425	1609	56	3	823	3	DEM1	1	40981037	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	99154	40981037	208269584	190	24141											
KCNQ4	9132	broad.mit.edu	37	chr1	41250028	41250028	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctgcagaactgggtctAcaacgtgctggagcggcccc	13	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:41250028A>G	uc001cgh.1	+	1	345	c.263A>G	c.(262-264)TAC>TGC	p.Y88C	KCNQ4_uc001cgi.1_Missense_Mutation_p.Y88C	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	potassium voltage-gated channel KQT-like protein	88	Cytoplasmic.				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			AACTGGGTCTACAACGTGCTG	0.687													G	41250028	A	G	41250028	3	3	27	1	0	0	0	0	1	0	0	0	8085	391	14	3	265	3	KCNQ4	1	41250028	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	268991	41250028	208000593	191	24142											
HIVEP3	59269	broad.mit.edu	37	chr1	41990484	41990484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcggatgtgtttcttcaGcatgctgggcttcttgcagc	14	9	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:41990484G>A	uc001cgz.3	-	6	6518	c.5305C>T	c.(5305-5307)CTG>TTG	p.L1769L	HIVEP3_uc001cha.3_Silent_p.L1769L|HIVEP3_uc001cgy.2_Intron	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1769	C2H2-type 4.|ZAS2.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGTTTCTTCAGCATGCTGGGC	0.502													A	41990484	G	A	41990484	2	1	27	1	0	0	0	0	0	0	0	1	7188	962	34	2		2	HIVEP3	1	41990484	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	740456	41990484	207260137	192	24143											
HIVEP3	59269	broad.mit.edu	37	chr1	42046233	42046233	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaggctcaagatactctcTgatgacagggaagtgccttt	10	10	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:42046233T>C	uc001cgz.3	-	4	5449	c.4236A>G	c.(4234-4236)TCA>TCG	p.S1412S	HIVEP3_uc001cha.3_Silent_p.S1412S|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1412					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGATACTCTCTGATGACAGGG	0.512													C	42046233	T	C	42046233	2	2	27	1	0	0	0	0	0	0	0	1	7188	1567	55	3		3	HIVEP3	1	42046233	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	55749	42046233	207204388	193	24144											
HIVEP3	59269	broad.mit.edu	37	chr1	42046988	42046988	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcctgggtggagaagaattCtggagactgtcctggctcat	15	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:42046988C>A	uc001cgz.3	-	4	4694	c.3481G>T	c.(3481-3483)GAA>TAA	p.E1161*	HIVEP3_uc001cha.3_Nonsense_Mutation_p.E1161*|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1161					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GAGAAGAATTCTGGAGACTGT	0.582													A	42046988	C	A	42046988	4	1	27	1	0	0	0	0	0	1	0	0	7188	922	32	5	3763	5	HIVEP3	1	42046988	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	755	42046988	207203633	194	24145											
HIVEP3	59269	broad.mit.edu	37	chr1	42048796	42048796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcgaaggagtagctacctCggaaggggtggtggggggtg	20	6	0	0	rs143274774		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:42048796C>T	uc001cgz.3	-	4	2886	c.1673G>A	c.(1672-1674)CGA>CAA	p.R558Q	HIVEP3_uc001cha.3_Missense_Mutation_p.R558Q|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	558	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GTAGCTACCTCGGAAGGGGTG	0.637													T	42048796	C	T	42048796	3	4	27	1	0	0	0	0	1	0	0	0	7188	884	31	1	5571	1	HIVEP3	1	42048796	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1808	42048796	207201825	195	24146											
FOXJ3	22887	broad.mit.edu	37	chr1	42664883	42664883	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctatcactaccatcctgatCagtgttatacaatgttacct	5	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:42664883C>T	uc001che.2	-	9	961	c.649G>A	c.(649-651)GAT>AAT	p.D217N	FOXJ3_uc001chf.2_Missense_Mutation_p.D217N|FOXJ3_uc001chg.2_Missense_Mutation_p.D217N|FOXJ3_uc001chh.1_Missense_Mutation_p.D183N	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	217					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)	2	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCATCCTGATCAGTGTTATAC	0.373													T	42664883	C	T	42664883	3	4	27	1	0	0	0	0	1	0	0	0	6013	826	29	4	1247	4	FOXJ3	1	42664883	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	616087	42664883	206585738	196	24147											
LEPRE1	64175	broad.mit.edu	37	chr1	43213016	43213016	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccccctggtgacagccttcActccatgtgggttttcagtg	11	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:43213016A>G	uc001chv.2	-	14	2095	c.1982T>C	c.(1981-1983)GTG>GCG	p.V661A	LEPRE1_uc001chw.2_Missense_Mutation_p.V661A|LEPRE1_uc001chx.3_Missense_Mutation_p.V661A	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	661	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GACAGCCTTCACTCCATGTGG	0.627											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	43213016	A	G	43213016	3	3	27	1	0	0	0	0	1	0	0	0	8729	159	6	3	255	3	LEPRE1	1	43213016	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	548133	43213016	206037605	197	24148											
SLC2A1	6513	broad.mit.edu	37	chr1	43396858	43396858	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcggtggacccatgtctggTtgtagaactcctcgatcacc	11	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:43396858T>C	uc001cik.2	-	3	659	c.134A>G	c.(133-135)AAC>AGC	p.N45S		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	45	Extracellular (Potential).				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CCATGTCTGGTTGTAGAACTC	0.602											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	43396858	T	C	43396858	3	2	27	1	0	0	0	0	1	0	0	0	14538	1725	60	3	1376	3	SLC2A1	1	43396858	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	183842	43396858	205853763	198	24149											
TMEM125	128218	broad.mit.edu	37	chr1	43738912	43738912	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatcaagtgggtgtgagCggacactgcccctccatctg	12	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:43738912C>T	uc001cir.2	+	4	1089	c.519C>T	c.(517-519)AGC>AGT	p.S173S	EBNA1BP2_uc001cio.2_5'Flank|TMEM125_uc001cis.2_Silent_p.S173S	NM_144626	NP_653227	Q96AQ2	TM125_HUMAN	transmembrane protein 125	173						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGGTGTGAGCGGACACTGCC	0.632													T	43738912	C	T	43738912	2	4	27	1	0	0	0	0	0	0	0	1	16034	767	27	1		1	TMEM125	1	43738912	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	342054	43738912	205511709	199	24150											
TIE1	7075	broad.mit.edu	37	chr1	43777979	43777979	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgacctctggccccagagcCtttgttgcagccgtggttgg	13	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:43777979C>A	uc001ciu.2	+	12	1713	c.1634C>A	c.(1633-1635)CCT>CAT	p.P545H	TIE1_uc010okd.1_Missense_Mutation_p.P545H|TIE1_uc010oke.1_Missense_Mutation_p.P500H|TIE1_uc009vwq.2_Missense_Mutation_p.P501H|TIE1_uc010okf.1_Missense_Mutation_p.P190H|TIE1_uc010okg.1_Missense_Mutation_p.P190H	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	545	Fibronectin type-III 2.|Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCCCAGAGCCTTTGTTGCAG	0.617													A	43777979	C	A	43777979	3	1	27	1	0	0	0	0	1	0	0	0	15890	681	24	5	1680	5	TIE1	1	43777979	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	39067	43777979	205472642	200	24151											
KIAA0467	23334	broad.mit.edu	37	chr1	43903371	43903371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctactctgaggaagcctcGgcatgtatcactcccactct	7	14	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:43903371G>A	uc001cjk.1	+	30	4161	c.3699G>A	c.(3697-3699)TCG>TCA	p.S1233S		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2132						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGAAGCCTCGGCATGTATCA	0.587													A	43903371	G	A	43903371	2	1	27	1	0	0	0	0	0	0	0	1	8178	1130	39	1		1	KIAA0467	1	43903371	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	125392	43903371	205347250	201	24152											
KIAA0467	23334	broad.mit.edu	37	chr1	43908489	43908489	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcaatgctccatctctcaGgagccaaacccattcctgct	6	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:43908489G>T	uc001cjk.1	+	44	5917	c.5455_splice	c.e44-1	p.E1819_splice		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334							peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCATCTCTCAGGAGCCAAACC	0.602													T	43908489	G	T	43908489	5	4	27	1	0	0	0	0	0	0	1	0	8178	1014	35	5	5620	5	KIAA0467	1	43908489	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5118	43908489	205342132	202	24153											
PTPRF	5792	broad.mit.edu	37	chr1	44056821	44056821	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaccacccgctacagcatTggcggcctcagccctttctc	8	19	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:44056821T>C	uc001cjr.2	+	9	1468	c.1128T>C	c.(1126-1128)ATT>ATC	p.I376I	PTPRF_uc001cjs.2_Silent_p.I376I|PTPRF_uc001cju.2_5'UTR|PTPRF_uc009vwt.2_5'UTR|PTPRF_uc001cjv.2_5'UTR	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	376	Extracellular (Potential).|Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCTACAGCATTGGCGGCCTCA	0.667													C	44056821	T	C	44056821	2	2	27	1	0	0	0	0	0	0	0	1	12801	1800	63	3		3	PTPRF	1	44056821	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	148332	44056821	205193800	203	24154											
PTPRF	5792	broad.mit.edu	37	chr1	44056913	44056913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgaggcagtgcgggcacGcacgggagaacaggcgccct	17	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:44056913G>A	uc001cjr.2	+	9	1560	c.1220G>A	c.(1219-1221)CGC>CAC	p.R407H	PTPRF_uc001cjs.2_Missense_Mutation_p.R407H|PTPRF_uc001cju.2_5'UTR|PTPRF_uc009vwt.2_5'UTR|PTPRF_uc001cjv.2_5'UTR	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	407	Extracellular (Potential).|Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGCGGGCACGCACGGGAGAA	0.701													A	44056913	G	A	44056913	3	1	27	1	0	0	0	0	1	0	0	0	12801	1087	38	1	1246	1	PTPRF	1	44056913	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	92	44056913	205193708	204	24155											
PTPRF	5792	broad.mit.edu	37	chr1	44063488	44063488	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacggtccgggtaagttgggTcccgccgcctgccgacagcc	14	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:44063488T>C	uc001cjr.2	+	12	2223	c.1883T>C	c.(1882-1884)GTC>GCC	p.V628A	PTPRF_uc001cjs.2_Missense_Mutation_p.V628A|PTPRF_uc001cju.2_Missense_Mutation_p.V199A|PTPRF_uc009vwt.2_Missense_Mutation_p.V199A|PTPRF_uc001cjv.2_Intron|PTPRF_uc001cjw.2_5'Flank	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	628	Extracellular (Potential).|Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTAAGTTGGGTCCCGCCGCCT	0.677													C	44063488	T	C	44063488	3	2	27	1	0	0	0	0	1	0	0	0	12801	1667	58	3	1921	3	PTPRF	1	44063488	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	6575	44063488	205187133	205	24156											
PTPRF	5792	broad.mit.edu	37	chr1	44069130	44069130	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccggagaccacctactccgTtactgttgctgcctatacca	7	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:44069130T>C	uc001cjr.2	+	15	2724	c.2384T>C	c.(2383-2385)GTT>GCT	p.V795A	PTPRF_uc001cjs.2_Missense_Mutation_p.V786A|PTPRF_uc001cju.2_Missense_Mutation_p.V366A|PTPRF_uc009vwt.2_Missense_Mutation_p.V357A|PTPRF_uc001cjv.2_Missense_Mutation_p.V255A|PTPRF_uc001cjw.2_Missense_Mutation_p.V21A	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	795	Fibronectin type-III 5.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCTACTCCGTTACTGTTGCT	0.587													C	44069130	T	C	44069130	3	2	27	1	0	0	0	0	1	0	0	0	12801	1725	60	3	2434	3	PTPRF	1	44069130	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	5642	44069130	205181491	206	24157											
PTPRF	5792	broad.mit.edu	37	chr1	44075099	44075099	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaggatgagcagtcgatcggActgaaggactccttgctggc	14	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:44075099A>T	uc001cjr.2	+	22	4243	c.3903A>T	c.(3901-3903)GGA>GGT	p.G1301G	PTPRF_uc001cjs.2_Silent_p.G1292G|PTPRF_uc001cju.2_Silent_p.G679G|PTPRF_uc009vwt.2_Silent_p.G861G|PTPRF_uc001cjv.2_Silent_p.G761G|PTPRF_uc001cjw.2_Silent_p.G527G	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1301	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGTCGATCGGACTGAAGGACT	0.592													T	44075099	A	T	44075099	2	4	27	1	0	0	0	0	0	0	0	1	12801	262	10	5		5	PTPRF	1	44075099	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	5969	44075099	205175522	207	24158											
ATP6V0B	533	broad.mit.edu	37	chr1	44442793	44442793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagtggggctgccctggccGatgctcagaaccccagcctc	13	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:44442793G>A	uc001cld.2	+	7	607	c.496G>A	c.(496-498)GAT>AAT	p.D166N	ATP6V0B_uc001clc.2_Missense_Mutation_p.D166N|ATP6V0B_uc001cle.2_Missense_Mutation_p.D119N|ATP6V0B_uc001clf.2_Missense_Mutation_p.D119N|B4GALT2_uc001clg.2_5'Flank|B4GALT2_uc001clh.2_5'Flank|B4GALT2_uc010okl.1_5'Flank	NM_004047	NP_004038	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0	166	Lumenal (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TGCCCTGGCCGATGCTCAGAA	0.577													A	44442793	G	A	44442793	3	1	27	1	0	0	0	0	1	0	0	0	1171	1058	37	1	522	1	ATP6V0B	1	44442793	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	367694	44442793	204807828	208	24159											
RNF220	55182	broad.mit.edu	37	chr1	45111159	45111162	+	Splice_Site	DEL	AAGT	AAGT	-													gcaagaacagcgacatcgagAagtaagtgtttggccaggag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:45111159_45111162delAAGT	uc001clv.1	+	12	1805	c.1445_splice	c.e12+1	p.K482_splice	RNF220_uc001clw.1_Splice_Site_p.K482_splice|RNF220_uc010oky.1_Splice_Site_p.K269_splice|RNF220_uc010okz.1_Splice_Site_p.K224_splice|RNF220_uc001clx.1_Splice_Site_p.K198_splice|RNF220_uc001cly.1_Splice_Site_p.K162_splice|RNF220_uc001clz.1_Splice_Site_p.K161_splice|RNF220_uc001cma.1_Splice_Site_p.K161_splice|TMEM53_uc001cmb.1_Intron	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220						protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						CGACATCGAGAAGTAAGTGTTTGG	0.593													-	45111162	AAGT	-	45111159	8	5	27	1	0	1	0	1	0	0	1	0	13483	260	9	0	1486	0	RNF220	1	45111159	Splice_Site	DEL	AAGT	TCGA-BR-6452-01A-12D-1800-08	668366	45111159	204139462	209	24160											
HECTD3	79654	broad.mit.edu	37	chr1	45474846	45474846	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacgatgcggatctcgatgaTcgggaggtggacggtcatgt	16	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:45474846T>A	uc009vxk.2	-	7	1140	c.1042A>T	c.(1042-1044)ATC>TTC	p.I348F	HECTD3_uc001cmy.3_5'Flank|HECTD3_uc010olh.1_Missense_Mutation_p.I64F|UROD_uc010oli.1_5'Flank|UROD_uc001cna.1_5'Flank|UROD_uc001cnb.1_5'Flank	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	348	DOC.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)					ATCTCGATGATCGGGAGGTGG	0.572													A	45474846	T	A	45474846	3	1	27	1	0	0	0	0	1	0	0	0	7041	1435	50	5	1603	5	HECTD3	1	45474846	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	363687	45474846	203775775	210	24161											
MUTYH	4595	broad.mit.edu	37	chr1	45799172	45799172	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgacttcagctacgtctctGaatagatggtatgaggagac	12	7	2	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:45799172G>A	uc001cnm.2	-	3	468	c.252C>T	c.(250-252)TTC>TTT	p.F84F	MUTYH_uc009vxn.2_Intron|MUTYH_uc001cnf.2_Silent_p.F59F|MUTYH_uc009vxo.2_Silent_p.F59F|MUTYH_uc001cng.2_Silent_p.F70F|MUTYH_uc001cnj.2_Intron|MUTYH_uc001cni.2_Silent_p.F59F|MUTYH_uc001cnh.2_Silent_p.F60F|MUTYH_uc001cno.2_Intron|MUTYH_uc001cnk.2_Intron|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Silent_p.F73F|MUTYH_uc009vxp.2_Silent_p.F87F|MUTYH_uc001cnn.2_Silent_p.F74F	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	mutY homolog isoform 1	84					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding				0	Acute lymphoblastic leukemia(166;0.155)					CTACGTCTCTGAATAGATGGT	0.592			Mis			colorectal		BER_DNA_glycosylases	MUTYH-associated_polyposis				A	45799172	G	A	45799172	2	1	27	1	0	0	0	0	0	0	0	1	9993	1281	45	4		4	MUTYH	1	45799172	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	324326	45799172	203451449	211	24162											
TOE1	114034	broad.mit.edu	37	chr1	45808899	45808899	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagggctttattgaacctacCggggacacagacctctgggg	14	10	1	2	rs145913038		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:45808899C>A	uc009vxq.2	+	8	1641	c.1058C>A	c.(1057-1059)CCG>CAG	p.P353Q	MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Missense_Mutation_p.P273Q|TOE1_uc001cnr.3_RNA	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	353						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)					TTGAACCTACCGGGGACACAG	0.557													A	45808899	C	A	45808899	3	1	27	1	0	0	0	0	1	0	0	0	16346	652	23	5	1088	5	TOE1	1	45808899	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	9727	45808899	203441722	212	24163											
MAST2	23139	broad.mit.edu	37	chr1	46496749	46496749	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagccctccaatgacagtgCgacgccgctgctcaggcctc	10	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:46496749C>T	uc001cov.2	+	23	3062	c.2779C>T	c.(2779-2781)CGA>TGA	p.R927*	MAST2_uc001cow.2_Nonsense_Mutation_p.R927*|MAST2_uc001coy.1_Nonsense_Mutation_p.R601*|MAST2_uc001cpa.2_RNA	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	927					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					AATGACAGTGCGACGCCGCTG	0.617													T	46496749	C	T	46496749	4	4	27	1	0	0	0	0	0	1	0	0	9325	760	27	1	2869	1	MAST2	1	46496749	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	687850	46496749	202753872	213	24164											
MAST2	23139	broad.mit.edu	37	chr1	46497992	46497992	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccatcatcatccaccgagcTggcaagaagtatggcttcac	8	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:46497992T>G	uc001cov.2	+	25	3613	c.3330T>G	c.(3328-3330)GCT>GCG	p.A1110A	MAST2_uc001cow.2_Silent_p.A1110A|MAST2_uc001cpa.2_Intron	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	1110	PDZ.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TCCACCGAGCTGGCAAGAAGT	0.567													G	46497992	T	G	46497992	2	3	27	1	0	0	0	0	0	0	0	1	9325	1567	55	5		5	MAST2	1	46497992	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1243	46497992	202752629	214	24165											
POMGNT1	55624	broad.mit.edu	37	chr1	46658844	46658844	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagttgtatccttagtactcAccggaaacaggttgaaagtg	11	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:46658844A>G	uc001cpe.2	-	13	1316	c.1152_splice	c.e13+1	p.P384_splice	POMGNT1_uc010olx.1_Splice_Site_p.P362_splice|POMGNT1_uc010oly.1_Splice_Site|POMGNT1_uc010olz.1_Splice_Site_p.P241_splice|POMGNT1_uc001cpg.2_Splice_Site_p.P384_splice|POMGNT1_uc001cpf.2_Splice_Site_p.P51_splice|POMGNT1_uc001cph.1_5'Flank|POMGNT1_uc001cpi.1_Splice_Site_p.P51_splice	NM_017739	NP_060209	Q8WZA1	PMGT1_HUMAN	O-linked mannose						protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CTTAGTACTCACCGGAAACAG	0.473													G	46658844	A	G	46658844	5	3	27	1	0	0	0	0	0	0	1	0	12243	173	6	3	868	3	POMGNT1	1	46658844	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	160852	46658844	202591777	215	24166											
RAD54L	8438	broad.mit.edu	37	chr1	46726527	46726527	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgtggacacttttacgCcagagtccagagtgcaagcc	11	10	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:46726527C>T	uc009vye.2	+	8	720	c.606C>T	c.(604-606)CGC>CGT	p.R202R	RAD54L_uc001cpl.2_Silent_p.R202R|RAD54L_uc001cpm.1_Silent_p.R22R	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	202	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CACTTTTACGCCAGAGTCCAG	0.552								Direct_reversal_of_damage|Homologous_recombination					T	46726527	C	T	46726527	2	4	27	1	0	0	0	0	0	0	0	1	12993	726	26	2		2	RAD54L	1	46726527	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	67683	46726527	202524094	216	24167											
RAD54L	8438	broad.mit.edu	37	chr1	46739122	46739122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttacagctctaaggccctgGagccccagctgtcaggtgac	12	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:46739122G>A	uc009vye.2	+	14	1585	c.1471G>A	c.(1471-1473)GAG>AAG	p.E491K	RAD54L_uc001cpl.2_Missense_Mutation_p.E491K|RAD54L_uc001cpm.1_Intron	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	491					meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TAAGGCCCTGGAGCCCCAGCT	0.522								Direct_reversal_of_damage|Homologous_recombination					A	46739122	G	A	46739122	3	1	27	1	0	0	0	0	1	0	0	0	12993	1175	41	4	1521	4	RAD54L	1	46739122	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	12595	46739122	202511499	217	24168											
FAAH	2166	broad.mit.edu	37	chr1	46876500	46876500	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagctgccaaggctgtcAgctttcctcagcaacatgaa	10	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:46876500A>G	uc001cpu.2	+	11	1372	c.1290A>G	c.(1288-1290)TCA>TCG	p.S430S	FAAH_uc001cpv.2_RNA	NM_001441	NP_001432	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	430					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	CAAGGCTGTCAGCTTTCCTCA	0.602													G	46876500	A	G	46876500	2	3	27	1	0	0	0	0	0	0	0	1	5353	175	7	3		3	FAAH	1	46876500	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	137378	46876500	202374121	218	24169											
ATPAF1	64756	broad.mit.edu	37	chr1	47101525	47101525	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caattcagcgatgacagacaTatatttgaactcatttggtc	7	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:47101525T>A	uc001cqh.2	-	9	1015	c.910A>T	c.(910-912)ATG>TTG	p.M304L	ATPAF1_uc001cqg.2_Missense_Mutation_p.M85L|ATPAF1_uc009vyk.2_Missense_Mutation_p.M153L|ATPAF1_uc010omg.1_Missense_Mutation_p.M216L|ATPAF1_uc001cqi.2_Missense_Mutation_p.M236L	NM_022745	NP_073582	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly	304					protein complex assembly	mitochondrion	protein binding				0	Acute lymphoblastic leukemia(166;0.155)					ATGACAGACATATATTTGAAC	0.463													A	47101525	T	A	47101525	3	1	27	1	0	0	0	0	1	0	0	0	1200	1406	49	5	80	5	ATPAF1	1	47101525	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	225025	47101525	202149096	219	24170											
KIAA0494	9813	broad.mit.edu	37	chr1	47183713	47183713	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggcttctttctccggctgTccccagccaaaccaatcaat	7	15	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:47183713T>C	uc001cqk.3	-	1	1024	c.47A>G	c.(46-48)GAC>GGC	p.D16G	KIAA0494_uc010omh.1_Missense_Mutation_p.D16G|KIAA0494_uc001cql.1_Missense_Mutation_p.D16G	NM_014774	NP_055589	O75071	K0494_HUMAN	hypothetical protein LOC9813	16							calcium ion binding				0	Acute lymphoblastic leukemia(166;0.155)					TCTCCGGCTGTCCCCAGCCAA	0.567													C	47183713	T	C	47183713	3	2	27	1	0	0	0	0	1	0	0	0	8179	1667	58	3	1484	3	KIAA0494	1	47183713	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	82188	47183713	202066908	220	24171											
CYP4X1	260293	broad.mit.edu	37	chr1	47515714	47515714	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccatgattgagttaaaggtAaccattgccttgattctgct	9	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:47515714A>G	uc001cqt.2	+	12	1648	c.1398A>G	c.(1396-1398)GTA>GTG	p.V466V	CYP4X1_uc001cqr.2_Silent_p.V465V|CYP4X1_uc001cqs.2_Silent_p.V401V	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X,	466						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2						AGTTAAAGGTAACCATTGCCT	0.438													G	47515714	A	G	47515714	2	3	27	1	0	0	0	0	0	0	0	1	4193	349	13	3		3	CYP4X1	1	47515714	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	332001	47515714	201734907	221	24172											
CYP4Z1	199974	broad.mit.edu	37	chr1	47564911	47564911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagcatcagcagagatgccGagatgaaatcagggaactcc	12	9	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:47564911G>A	uc001cqu.1	+	8	1025	c.1022G>A	c.(1021-1023)CGA>CAA	p.R341Q		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	cytochrome P450 4Z1	341	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			skin(1)	1						CAGAGATGCCGAGATGAAATC	0.438													A	47564911	G	A	47564911	3	1	27	1	0	0	0	0	1	0	0	0	4194	1058	37	1	1052	1	CYP4Z1	1	47564911	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	49197	47564911	201685710	222	24173											
STIL	6491	broad.mit.edu	37	chr1	47716886	47716886	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgctattcatctgcttTagcgtttcagaaggttgcaa	8	8	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:47716886T>C	uc001crc.1	-	17	3941	c.3786A>G	c.(3784-3786)CTA>CTG	p.L1262L	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.L1216L|STIL_uc010omo.1_Silent_p.L1245L|STIL_uc001crd.1_Silent_p.L1263L|STIL_uc001cre.1_Silent_p.L1262L	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	1262					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCATCTGCTTTAGCGTTTCAG	0.388													C	47716886	T	C	47716886	2	2	27	1	0	0	0	0	0	0	0	1	15281	1741	61	3		3	STIL	1	47716886	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	151975	47716886	201533735	223	24174											
STIL	6491	broad.mit.edu	37	chr1	47717182	47717182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctctttctgaccaccaaGctgttcaggtatggacctaa	9	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:47717182G>T	uc001crc.1	-	17	3645	c.3490C>A	c.(3490-3492)CTT>ATT	p.L1164I	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.L1118I|STIL_uc010omo.1_Missense_Mutation_p.L1147I|STIL_uc001crd.1_Missense_Mutation_p.L1165I|STIL_uc001cre.1_Missense_Mutation_p.L1164I	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	1164					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TGACCACCAAGCTGTTCAGGT	0.408													T	47717182	G	T	47717182	3	4	27	1	0	0	0	0	1	0	0	0	15281	971	34	5	377	5	STIL	1	47717182	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	296	47717182	201533439	224	24175											
STIL	6491	broad.mit.edu	37	chr1	47746066	47746066	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataagtccatatgtgaaggCggtcttgccacaggcgatgg	13	9	1	1	rs138834578	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:47746066C>T	uc001crc.1	-	12	2219	c.2064G>A	c.(2062-2064)CCG>CCA	p.P688P	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.P641P|STIL_uc010omo.1_Silent_p.P688P|STIL_uc001crd.1_Silent_p.P688P|STIL_uc001cre.1_Silent_p.P688P|STIL_uc001crf.1_Silent_p.P301P|STIL_uc001crg.1_Silent_p.P641P	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	688	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TATGTGAAGGCGGTCTTGCCA	0.483													T	47746066	C	T	47746066	2	4	27	1	0	0	0	0	0	0	0	1	15281	755	27	1		1	STIL	1	47746066	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	28884	47746066	201504555	225	24176											
CMPK1	51727	broad.mit.edu	37	chr1	47840875	47840875	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacttcttttgcagaattcaGacctaccttcagtcaacaaa	4	11	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:47840875G>A	uc001cri.2	+	5	704	c.555G>A	c.(553-555)CAG>CAA	p.Q185Q	CMPK1_uc010omp.1_Silent_p.Q136Q|CMPK1_uc010omq.1_RNA	NM_016308	NP_057392	P30085	KCY_HUMAN	UMP-CMP kinase 1 isoform a	153					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			ovary(1)	1					Gemcitabine(DB00441)	GCAGAATTCAGACCTACCTTC	0.373													A	47840875	G	A	47840875	2	1	27	1	0	0	0	0	0	0	0	1	3580	933	33	4		4	CMPK1	1	47840875	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	94809	47840875	201409746	226	24177											
SLC5A9	200010	broad.mit.edu	37	chr1	48690420	48690420	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccatccgtgcaagtcgagggAccattggcggctatttcctg	12	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:48690420A>T	uc001cro.2	+	2	239	c.187A>T	c.(187-189)ACC>TCC	p.T63S	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.T63S|SLC5A9_uc010omt.1_Missense_Mutation_p.T56S|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	63	Cytoplasmic (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3						AAGTCGAGGGACCATTGGCGG	0.562													T	48690420	A	T	48690420	3	4	27	1	0	0	0	0	1	0	0	0	14672	275	10	5	193	5	SLC5A9	1	48690420	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	849545	48690420	200560201	227	24178											
SLC5A9	200010	broad.mit.edu	37	chr1	48703476	48703476	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggccccacccatcaccgCtctcttcctgctggccatct	6	21	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:48703476C>A	uc001cro.2	+	11	1470	c.1418C>A	c.(1417-1419)GCT>GAT	p.A473D	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.A498D|SLC5A9_uc010omt.1_Missense_Mutation_p.A487D|SLC5A9_uc001crp.2_Missense_Mutation_p.A140D|SLC5A9_uc010omu.1_Missense_Mutation_p.A140D|SLC5A9_uc009vyt.1_5'Flank	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	473	Helical; (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3						CCCATCACCGCTCTCTTCCTG	0.507													A	48703476	C	A	48703476	3	1	27	1	0	0	0	0	1	0	0	0	14672	797	28	5	1539	5	SLC5A9	1	48703476	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	13056	48703476	200547145	228	24179											
FAF1	11124	broad.mit.edu	37	chr1	50956304	50956304	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgaatctgctccaaacgaaActgttctgccatctctctct	6	14	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:50956304A>G	uc009vyx.1	-	18	1672	c.1609T>C	c.(1609-1611)TTT>CTT	p.F537L	FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Missense_Mutation_p.F537L|FAF1_uc010onc.1_Missense_Mutation_p.F295L	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	FAS-associated factor 1	537					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TCCAAACGAAACTGTTCTGCC	0.358													G	50956304	A	G	50956304	3	3	27	1	0	0	0	0	1	0	0	0	5369	43	2	3	355	3	FAF1	1	50956304	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2252828	50956304	198294317	229	24180											
ORC1L	4998	broad.mit.edu	37	chr1	52838930	52838930	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcagatcgttcctgcTgggctccacaagcaggaggc	14	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:52838930T>C	uc001ctt.2	-	17	2728	c.2509A>G	c.(2509-2511)AGC>GGC	p.S837G	ORC1L_uc010oni.1_Missense_Mutation_p.S832G|ORC1L_uc001ctu.2_Missense_Mutation_p.S837G|ORC1L_uc009vzd.2_Missense_Mutation_p.S591G	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	837	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0						TCGTTCCTGCTGGGCTCCACA	0.577													C	52838930	T	C	52838930	3	2	27	1	0	0	0	0	1	0	0	0	11261	1580	55	3	80	3	ORC1L	1	52838930	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1882626	52838930	196411691	230	24181											
PRPF38A	84950	broad.mit.edu	37	chr1	52881054	52881054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagccactcaaagtctcccGaaaggtaatgaattgacctc	9	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:52881054G>A	uc001ctv.3	+	9	1095	c.892G>A	c.(892-894)GAA>AAA	p.E298K	PRPF38A_uc001ctw.3_Silent_p.P108P	NM_032864	NP_116253	Q8NAV1	PR38A_HUMAN	PRP38 pre-mRNA processing factor 38 (yeast)	298					mRNA processing|RNA splicing	spliceosomal complex					0						AAAGTCTCCCGAAAGGTAATG	0.398													A	52881054	G	A	52881054	3	1	27	1	0	0	0	0	1	0	0	0	12567	1059	37	1	926	1	PRPF38A	1	52881054	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	42124	52881054	196369567	231	24182											
GPX7	2882	broad.mit.edu	37	chr1	53072522	53072522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaacaaggagattgagaGctttgcccgccgcacctaca	10	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:53072522G>A	uc001cue.2	+	2	344	c.305G>A	c.(304-306)AGC>AAC	p.S102N		NM_015696	NP_056511	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7 precursor	102					response to oxidative stress	extracellular region	glutathione peroxidase activity				0					Glutathione(DB00143)	GAGATTGAGAGCTTTGCCCGC	0.577													A	53072522	G	A	53072522	3	1	27	1	0	0	0	0	1	0	0	0	6745	971	34	2	311	2	GPX7	1	53072522	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	191468	53072522	196178099	232	24183											
ZYG11B	79699	broad.mit.edu	37	chr1	53236726	53236726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaactgtgggtatttttagGggcaaccagatgcgcttaaa	13	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:53236726G>A	uc001cuj.2	+	3	426	c.231G>A	c.(229-231)AGG>AGA	p.R77R	ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Silent_p.R68R	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	77							protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						GTATTTTTAGGGGCAACCAGA	0.398													A	53236726	G	A	53236726	2	1	27	1	0	0	0	0	0	0	0	1	18250	1223	43	4		4	ZYG11B	1	53236726	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	164204	53236726	196013895	233	24184											
ZYG11B	79699	broad.mit.edu	37	chr1	53245640	53245640	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtctgactcatgtgatggAaaaaacaaagccagaaattt	8	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:53245640A>G	uc001cuj.2	+	4	1262	c.1067A>G	c.(1066-1068)GAA>GGA	p.E356G	ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.E347G	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	356							protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						CATGTGATGGAAAAAACAAAG	0.358													G	53245640	A	G	53245640	3	3	27	1	0	0	0	0	1	0	0	0	18250	246	9	3	1081	3	ZYG11B	1	53245640	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	8914	53245640	196004981	234	24185											
ZYG11B	79699	broad.mit.edu	37	chr1	53279576	53279576	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actccagagtgtgagatggtAgcatacaggtaattagtatc	11	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:53279576A>G	uc001cuj.2	+	12	2133	c.1938A>G	c.(1936-1938)GTA>GTG	p.V646V	ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Silent_p.V567V|ZYG11B_uc009vzh.2_Silent_p.V68V	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	646							protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						GTGAGATGGTAGCATACAGGT	0.358													G	53279576	A	G	53279576	2	3	27	1	0	0	0	0	0	0	0	1	18250	407	15	3		3	ZYG11B	1	53279576	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	33936	53279576	195971045	235	24186											
ZYG11B	79699	broad.mit.edu	37	chr1	53282239	53282239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcccattacttggctgttTcacaacaccaggagttcagc	7	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:53282239T>C	uc001cuj.2	+	13	2177	c.1982T>C	c.(1981-1983)TTC>TCC	p.F661S	ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.F582S|ZYG11B_uc009vzh.2_Missense_Mutation_p.F83S	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	661							protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						CTTGGCTGTTTCACAACACCA	0.373													C	53282239	T	C	53282239	3	2	27	1	0	0	0	0	1	0	0	0	18250	1783	62	3	2032	3	ZYG11B	1	53282239	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2663	53282239	195968382	236	24187											
SCP2	6342	broad.mit.edu	37	chr1	53427303	53427303	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaacatatggaaaaatatggTatgttacagttaaaaaactt	7	3	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:53427303T>A	uc001cur.1	+	6	644	c.523_splice	c.e6+2	p.G175_splice	SCP2_uc001cus.1_Splice_Site|SCP2_uc010ono.1_Splice_Site_p.G94_splice|SCP2_uc010onp.1_Splice_Site_p.G151_splice|SCP2_uc009vzi.1_Splice_Site_p.G131_splice|SCP2_uc001cuq.1_Splice_Site_p.G131_splice	NM_002979	NP_002970	P22307	NLTP_HUMAN	sterol carrier protein 2 isoform 1 proprotein						bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)	1						AAAAATATGGTATGTTACAGT	0.368													A	53427303	T	A	53427303	5	1	27	1	0	0	0	0	0	0	1	0	13934	1652	57	5	547	5	SCP2	1	53427303	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	145064	53427303	195823318	237	24188											
PODN	127435	broad.mit.edu	37	chr1	53544105	53544105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgggtcccagctgggctgcCgcgcagcctggtgctgctgc	16	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:53544105C>T	uc001cuv.2	+	8	1074	c.1067C>T	c.(1066-1068)CCG>CTG	p.P356L	PODN_uc001cuw.2_Missense_Mutation_p.P337L|PODN_uc010onr.1_Missense_Mutation_p.P337L|PODN_uc010ons.1_Missense_Mutation_p.P214L	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	308	LRR 9.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2						GCTGGGCTGCCGCGCAGCCTG	0.493													T	53544105	C	T	53544105	3	4	27	1	0	0	0	0	1	0	0	0	12178	652	23	1	1097	1	PODN	1	53544105	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	116802	53544105	195706516	238	24189											
CPT2	1376	broad.mit.edu	37	chr1	53675839	53675839	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgccatccggtttctgaagAcactccgggctggccttctg	11	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:53675839A>T	uc001cvb.3	+	4	1008	c.493A>T	c.(493-495)ACA>TCA	p.T165S		NM_000098	NP_000089	P23786	CPT2_HUMAN	carnitine O-palmitoyltransferase precursor	165	Mitochondrial matrix (By similarity).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity				0					L-Carnitine(DB00583)|Perhexiline(DB01074)	GTTTCTGAAGACACTCCGGGC	0.483													T	53675839	A	T	53675839	3	4	27	1	0	0	0	0	1	0	0	0	3834	275	10	5	507	5	CPT2	1	53675839	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	131734	53675839	195574782	239	24190											
CPT2	1376	broad.mit.edu	37	chr1	53675956	53675956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctctgtcctggtatgggGcctacctggtcaatgcgtat	11	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:53675956G>A	uc001cvb.3	+	4	1125	c.610G>A	c.(610-612)GCC>ACC	p.A204T		NM_000098	NP_000089	P23786	CPT2_HUMAN	carnitine O-palmitoyltransferase precursor	204					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity				0					L-Carnitine(DB00583)|Perhexiline(DB01074)	CTGGTATGGGGCCTACCTGGT	0.488													A	53675956	G	A	53675956	3	1	27	1	0	0	0	0	1	0	0	0	3834	1203	42	2	624	2	CPT2	1	53675956	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	117	53675956	195574665	240	24191											
LRP8	7804	broad.mit.edu	37	chr1	53715086	53715086	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcagctcggaaagagggTtcttcgggagttggtgcagc	17	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:53715086T>C	uc001cvi.1	-	18	2961	c.2819A>G	c.(2818-2820)AAC>AGC	p.N940S	LRP8_uc001cvh.1_Intron|LRP8_uc001cvk.1_Missense_Mutation_p.N770S|LRP8_uc001cvj.1_Intron|LRP8_uc001cvl.1_Intron	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	940	Cytoplasmic (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0						GGAAAGAGGGTTCTTCGGGAG	0.383													C	53715086	T	C	53715086	3	2	27	1	0	0	0	0	1	0	0	0	8963	1725	60	3	80	3	LRP8	1	53715086	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	39130	53715086	195535535	241	24192											
TMEM48	55706	broad.mit.edu	37	chr1	54258916	54258916	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttaccttactgaaaaaatAcattatcagcacccgttttg	4	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:54258916A>G	uc001cvs.2	-	14	1862	c.1621T>C	c.(1621-1623)TAT>CAT	p.Y541H	TMEM48_uc010onu.1_Missense_Mutation_p.Y501H|TMEM48_uc001cvt.2_Missense_Mutation_p.Y418H|TMEM48_uc009vzk.2_Intron|TMEM48_uc010onv.1_Missense_Mutation_p.Y206H	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	transmembrane protein 48	541	Cytoplasmic (Potential).				mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			ovary(1)|pancreas(1)	2						CTGAAAAAATACATTATCAGC	0.313													G	54258916	A	G	54258916	3	3	27	1	0	0	0	0	1	0	0	0	16169	391	14	3	423	3	TMEM48	1	54258916	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	543830	54258916	194991705	242	24193											
YIPF1	54432	broad.mit.edu	37	chr1	54331937	54331937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caattgtggccaatgcaacgCgtcggttatcctcacgaaca	9	12	1	0	rs139670932		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:54331937C>T	uc001cvu.2	-	9	1104	c.767G>A	c.(766-768)CGC>CAC	p.R256H	YIPF1_uc001cvv.2_RNA|YIPF1_uc001cvw.2_RNA|YIPF1_uc001cvx.2_RNA|YIPF1_uc001cvy.2_RNA	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	256	Cytoplasmic (Potential).					integral to membrane|transport vesicle				large_intestine(1)|ovary(1)	2						CAATGCAACGCGTCGGTTATC	0.468													T	54331937	C	T	54331937	3	4	27	1	0	0	0	0	1	0	0	0	17474	768	27	1	161	1	YIPF1	1	54331937	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	73021	54331937	194918684	243	24194											
HSPB11	51668	broad.mit.edu	37	chr1	54387395	54387395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgcaaaatgatcaaaggCtgatacaataatgaatctca	7	6	2	4	rs140103685	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:54387395C>T	uc001cwh.2	-	6	440	c.364G>A	c.(364-366)GCC>ACC	p.A122T	HSPB11_uc001cwi.1_3'UTR	NM_016126	NP_057210	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	122					cell adhesion|response to stress						0						TGATCAAAGGCTGATACAATA	0.353													T	54387395	C	T	54387395	3	4	27	1	0	0	0	0	1	0	0	0	7419	797	28	2	74	2	HSPB11	1	54387395	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	55458	54387395	194863226	244	24195											
HSPB11	51668	broad.mit.edu	37	chr1	54395786	54395786	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatgaattcctggggaaacAttcctgtggtggtccaaaac	10	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:54395786A>G	uc001cwh.2	-	3	207	c.131T>C	c.(130-132)ATG>ACG	p.M44T	HSPB11_uc001cwi.1_Missense_Mutation_p.M44T	NM_016126	NP_057210	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	44					cell adhesion|response to stress						0						CTGGGGAAACATTCCTGTGGT	0.284													G	54395786	A	G	54395786	3	3	27	1	0	0	0	0	1	0	0	0	7419	217	8	3	319	3	HSPB11	1	54395786	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	8391	54395786	194854835	245	24196											
LRRC42	115353	broad.mit.edu	37	chr1	54427732	54427732	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgagatcacagatgcaggCattggatacctcttttcttt	8	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:54427732C>T	uc001cwj.1	+	5	950	c.750C>T	c.(748-750)GGC>GGT	p.G250G	LRRC42_uc001cwl.1_Silent_p.G250G|LRRC42_uc001cwk.1_Silent_p.G250G|LRRC42_uc009vzm.1_Silent_p.G250G	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	250	LRR 4.										0						CAGATGCAGGCATTGGATACC	0.378													T	54427732	C	T	54427732	2	4	27	1	0	0	0	0	0	0	0	1	9000	697	25	2		2	LRRC42	1	54427732	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	31946	54427732	194822889	246	24197											
SSBP3	23648	broad.mit.edu	37	chr1	54867612	54867612	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcacagtaaaggtcccaAaatacactgcgaggaggaaa	11	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:54867612A>G	uc001cxe.2	-	4	496	c.198T>C	c.(196-198)TTT>TTC	p.F66F	SSBP3_uc001cxf.2_Silent_p.F66F|SSBP3_uc001cxg.2_Silent_p.F66F	NM_145716	NP_663768	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3 isoform a	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding				0						AAAGGTCCCAAAATACACTGC	0.398													G	54867612	A	G	54867612	2	3	27	1	0	0	0	0	0	0	0	1	15180	11	1	3		3	SSBP3	1	54867612	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	439880	54867612	194383009	247	24198											
USP24	23358	broad.mit.edu	37	chr1	55627910	55627910	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaggtactctgcacacactcCtaagggctgaatcagtgctg	11	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:55627910C>G	uc001cyg.3	-	7	619	c.619G>C	c.(619-621)GGA>CGA	p.G207R		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	319					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						GCACACACTCCTAAGGGCTGA	0.373													G	55627910	C	G	55627910	3	3	27	1	0	0	0	0	1	0	0	0	17052	690	24	5	7151	5	USP24	1	55627910	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	760298	55627910	193622711	248	24199											
PRKAA2	5563	broad.mit.edu	37	chr1	57158066	57158066	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccaggcggctctttcagcaGattctgtctgctgtggatta	12	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:57158066G>A	uc001cyk.3	+	4	437	c.366G>A	c.(364-366)CAG>CAA	p.Q122Q		NM_006252	NP_006243	P54646	AAPK2_HUMAN	AMP-activated protein kinase alpha 2 catalytic	122	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(4)|ovary(1)|stomach(1)	6						TCTTTCAGCAGATTCTGTCTG	0.383													A	57158066	G	A	57158066	2	1	27	1	0	0	0	0	0	0	0	1	12494	933	33	4		4	PRKAA2	1	57158066	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1530156	57158066	192092555	249	24200											
PRKAA2	5563	broad.mit.edu	37	chr1	57159508	57159508	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccaaattatgcagcaccTgaagtcatctcaggcaggta	8	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:57159508T>C	uc001cyk.3	+	5	617	c.546T>C	c.(544-546)CCT>CCC	p.P182P		NM_006252	NP_006243	P54646	AAPK2_HUMAN	AMP-activated protein kinase alpha 2 catalytic	182	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(4)|ovary(1)|stomach(1)	6						ATGCAGCACCTGAAGTCATCT	0.328													C	57159508	T	C	57159508	2	2	27	1	0	0	0	0	0	0	0	1	12494	1567	55	3		3	PRKAA2	1	57159508	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1442	57159508	192091113	250	24201											
C1orf168	199920	broad.mit.edu	37	chr1	57257958	57257958	+	Frame_Shift_Del	DEL	C	C	-													ctgggttcctctggagtaagCcccatgcctttttgcccttc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:57257957_57257957GC>G	uc001cym.4	-	1	935	c.529_529GC>C	c.(529-531)cttfs	p.L177fs	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Frame_Shift_Del_p.L177fs	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	177										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCTGGAGTAAGCCCCATGCCT	0.488													-	57257958	C	-	57257958	7	5	27	1	0	1	0	1	0	0	0	0	2012	726	26	0	1734	0	C1orf168	1	57257958	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	98450	57257958	191992663	251	24202											
C8B	732	broad.mit.edu	37	chr1	57420406	57420406	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tattggtccatttcatgctgAcattttttataaatccttct	4	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:57420406A>T	uc001cyp.2	-	4	553	c.486T>A	c.(484-486)TGT>TGA	p.C162*	C8B_uc010oon.1_Nonsense_Mutation_p.C100*|C8B_uc010ooo.1_Nonsense_Mutation_p.C110*	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	162	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						TTTCATGCTGACATTTTTTAT	0.443													T	57420406	A	T	57420406	4	4	27	1	0	0	0	0	0	1	0	0	2417	273	10	5	1325	5	C8B	1	57420406	Nonsense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	162448	57420406	191830215	252	24203											
DAB1	1600	broad.mit.edu	37	chr1	57535065	57535065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttccgtttcgggatcacGgattggctcgtgtccagcct	11	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:57535065G>A	uc001cys.1	-	10	1305	c.631C>T	c.(631-633)CGT>TGT	p.R211C	DAB1_uc001cyt.1_Missense_Mutation_p.R211C|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc009vzx.1_Missense_Mutation_p.R211C	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	211					cell differentiation|nervous system development					skin(2)|ovary(1)	3						TCGGGATCACGGATTGGCTCG	0.408													A	57535065	G	A	57535065	3	1	27	1	0	0	0	0	1	0	0	0	4217	1116	39	1	1064	1	DAB1	1	57535065	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	114659	57535065	191715556	253	24204											
OMA1	115209	broad.mit.edu	37	chr1	58999720	58999720	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaaatccagtgaaaacaaAcatttgtccattctgcacca	4	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:58999720A>G	uc001cyy.2	-	5	1004	c.916T>C	c.(916-918)TTT>CTT	p.F306L	DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Missense_Mutation_p.F306L|OMA1_uc009vzz.2_Missense_Mutation_p.F306L	NM_145243	NP_660286	Q96E52	OMA1_HUMAN	OMA1 homolog, zinc metallopeptidase precursor	306					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			large_intestine(1)	1	all_cancers(7;6.54e-05)					GTGAAAACAAACATTTGTCCA	0.328													G	58999720	A	G	58999720	3	3	27	1	0	0	0	0	1	0	0	0	10864	43	2	3	678	3	OMA1	1	58999720	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1464655	58999720	190250901	254	24205											
JUN	3725	broad.mit.edu	37	chr1	59248625	59248625	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactgggtcggccaggttcaGggtcatgctctgtttcagga	14	10	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:59248625G>T	uc001cze.2	-	1	1161	c.118C>A	c.(118-120)CTG>ATG	p.L40M	uc001czf.2_5'Flank|uc010oop.1_5'Flank	NM_002228	NP_002219	P05412	JUN_HUMAN	jun oncogene	40					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding				0	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	GCCAGGTTCAGGGTCATGCTC	0.622			A		sarcoma								T	59248625	G	T	59248625	3	4	27	1	0	0	0	0	1	0	0	0	7969	991	35	5	881	5	JUN	1	59248625	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	248905	59248625	190001996	255	24206											
FGGY	55277	broad.mit.edu	37	chr1	59812017	59812017	+	Frame_Shift_Del	DEL	G	G	-													acagtgtcctccagtacgtcGggggggtgatgtctgtggaa					rs145440779	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:59812016_59812016CG>C	uc009wac.3	+	3	623	c.411_411CG>C	c.(409-411)gtcfs	p.V137fs	FGGY_uc001czg.2_Frame_Shift_Del_p.V25fs|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Frame_Shift_Del_p.V137fs|FGGY_uc001czl.4_Intron	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGA	0.502													-	59812017	G	-	59812017	7	5	27	1	0	1	0	1	0	0	0	0	5871	1116	39	0	422	0	FGGY	1	59812017	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	563392	59812017	189438604	256	24207											
HOOK1	51361	broad.mit.edu	37	chr1	60299106	60299106	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcagatttcagaagcactTatccctgatttaaaccaaat	5	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:60299106T>C	uc009wad.2	+	6	405	c.303T>C	c.(301-303)CTT>CTC	p.L101L	HOOK1_uc001czo.2_Silent_p.L101L|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Silent_p.L59L	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	101	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)					CAGAAGCACTTATCCCTGATT	0.368													C	60299106	T	C	60299106	2	2	27	1	0	0	0	0	0	0	0	1	7282	1741	61	3		3	HOOK1	1	60299106	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	487089	60299106	188951515	257	24208											
HOOK1	51361	broad.mit.edu	37	chr1	60330855	60330855	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaactcacagaggtccAtgaagaattacagaagaaac	9	7	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:60330855A>G	uc009wad.2	+	19	1784	c.1682A>G	c.(1681-1683)CAT>CGT	p.H561R	HOOK1_uc001czo.2_Missense_Mutation_p.H561R|HOOK1_uc001czp.2_Intron|HOOK1_uc010oor.1_Missense_Mutation_p.H519R	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	561	Potential.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)					ACAGAGGTCCATGAAGAATTA	0.264													G	60330855	A	G	60330855	3	3	27	1	0	0	0	0	1	0	0	0	7282	217	8	3	1752	3	HOOK1	1	60330855	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	31749	60330855	188919766	258	24209											
INADL	10207	broad.mit.edu	37	chr1	62574144	62574144	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgaagtctatgaagaaggGgcagcagccagagatggaag	15	6	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:62574144G>A	uc001dab.2	+	34	4527	c.4413G>A	c.(4411-4413)GGG>GGA	p.G1471G	INADL_uc009waf.1_Silent_p.G1501G|INADL_uc001daa.2_Intron|INADL_uc001dad.3_Silent_p.G1168G|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Silent_p.G285G|INADL_uc009wag.2_Silent_p.G255G|INADL_uc010oou.1_Intron	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1471	PDZ 8.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						ATGAAGAAGGGGCAGCAGCCA	0.353													A	62574144	G	A	62574144	2	1	27	1	0	0	0	0	0	0	0	1	7731	1219	43	4		4	INADL	1	62574144	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2243289	62574144	186676477	259	24210											
INADL	10207	broad.mit.edu	37	chr1	62614010	62614010	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcttgaaaacatgtctAcaggctaccaccttggttcg	8	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:62614010A>G	uc001dab.2	+	42	5440	c.5326A>G	c.(5326-5328)ACA>GCA	p.T1776A	INADL_uc001dac.2_RNA|INADL_uc009wag.2_Missense_Mutation_p.T560A	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1776					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						AAACATGTCTACAGGCTACCA	0.453													G	62614010	A	G	62614010	3	3	27	1	0	0	0	0	1	0	0	0	7731	391	14	3	5488	3	INADL	1	62614010	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	39866	62614010	186636611	260	24211											
L1TD1	54596	broad.mit.edu	37	chr1	62675548	62675548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagtaaaagttgctaagCcagaggagatgaaaaactta	10	4	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:62675548C>T	uc001dae.3	+	4	1404	c.1102C>T	c.(1102-1104)CCA>TCA	p.P368S		NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	368										ovary(1)|skin(1)	2						AGTTGCTAAGCCAGAGGAGAT	0.428													T	62675548	C	T	62675548	3	4	27	1	0	0	0	0	1	0	0	0	8589	739	26	2	1108	2	L1TD1	1	62675548	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	61538	62675548	186575073	261	24212											
L1TD1	54596	broad.mit.edu	37	chr1	62675858	62675858	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catggaaactactttcattgActctgtagaggattctgaat	8	7	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:62675858A>T	uc001dae.3	+	4	1714	c.1412A>T	c.(1411-1413)GAC>GTC	p.D471V		NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	471	Glu-rich.									ovary(1)|skin(1)	2						ACTTTCATTGACTCTGTAGAG	0.433													T	62675858	A	T	62675858	3	4	27	1	0	0	0	0	1	0	0	0	8589	275	10	5	1418	5	L1TD1	1	62675858	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	310	62675858	186574763	262	24213											
KANK4	163782	broad.mit.edu	37	chr1	62738936	62738936	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgagcctgggccgagtAggccgacagcagcaggttga	18	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:62738936A>G	uc001dah.3	-	3	2217	c.1840T>C	c.(1840-1842)TAC>CAC	p.Y614H	KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	614										ovary(3)|skin(2)|lung(1)	6						TGGGCCGAGTAGGCCGACAGC	0.642													G	62738936	A	G	62738936	3	3	27	1	0	0	0	0	1	0	0	0	7979	420	15	3	1179	3	KANK4	1	62738936	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	63078	62738936	186511685	263	24214											
ANGPTL3	27329	broad.mit.edu	37	chr1	63069820	63069820	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattactggcaatgtccccaAtgcaatcccggaaaacaaag	8	11	0	0	rs151187179	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:63069820A>G	uc001das.1	+	6	1163	c.1112A>G	c.(1111-1113)AAT>AGT	p.N371S	DOCK7_uc001dan.2_Intron|DOCK7_uc001dao.2_Intron|DOCK7_uc001dap.2_Intron|DOCK7_uc001daq.2_Intron|DOCK7_uc009wah.1_Intron	NM_014495	NP_055310	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3 precursor	371	Fibrinogen C-terminal.				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity				0						AATGTCCCCAATGCAATCCCG	0.378													G	63069820	A	G	63069820	3	3	27	1	0	0	0	0	1	0	0	0	615	101	4	3	1134	3	ANGPTL3	1	63069820	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	330884	63069820	186180801	264	24215											
DOCK7	85440	broad.mit.edu	37	chr1	63090947	63090947	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tacctgcttaaaaaaatttgTcactgtgagagtagctggtc	9	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:63090947T>A	uc001daq.2	-	12	1442	c.1408A>T	c.(1408-1410)ACA>TCA	p.T470S	DOCK7_uc001dan.2_Missense_Mutation_p.T362S|DOCK7_uc001dao.2_Missense_Mutation_p.T362S|DOCK7_uc001dap.2_Missense_Mutation_p.T470S|DOCK7_uc009wah.1_Missense_Mutation_p.T470S	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	470					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						AAAAAATTTGTCACTGTGAGA	0.368													A	63090947	T	A	63090947	3	1	27	1	0	0	0	0	1	0	0	0	4692	1667	58	5	5073	5	DOCK7	1	63090947	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	21127	63090947	186159674	265	24216											
ROR1	4919	broad.mit.edu	37	chr1	64644121	64644121	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccagggtattacaccacaGggccagattgctggtttcat	11	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:64644121G>T	uc001dbj.2	+	9	2796	c.2397G>T	c.(2395-2397)CAG>CAT	p.Q799H	uc001dbm.2_5'Flank	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	799	Cytoplasmic (Potential).|Pro-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						TTACACCACAGGGCCAGATTG	0.512													T	64644121	G	T	64644121	3	4	27	1	0	0	0	0	1	0	0	0	13526	991	35	5	2439	5	ROR1	1	64644121	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1553174	64644121	184606500	266	24217											
CACHD1	57685	broad.mit.edu	37	chr1	65120394	65120394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgggcagccagattatcGcagtccctgtgaactcatcc	9	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:65120394G>A	uc001dbo.1	+	12	1642	c.1537G>A	c.(1537-1539)GCA>ACA	p.A513T	CACHD1_uc001dbp.1_Missense_Mutation_p.A268T|CACHD1_uc001dbq.1_Missense_Mutation_p.A268T	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	564	Extracellular (Potential).				calcium ion transport	integral to membrane				ovary(2)	2						CCAGATTATCGCAGTCCCTGT	0.433													A	65120394	G	A	65120394	3	1	27	1	0	0	0	0	1	0	0	0	2537	1087	38	1	1583	1	CACHD1	1	65120394	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	476273	65120394	184130227	267	24218											
JAK1	3716	broad.mit.edu	37	chr1	65332662	65332662	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catctcattttctgatgaaaTcagtaacatggaagtctcaa	6	8	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:65332662T>A	uc001dbu.1	-	7	1126	c.877A>T	c.(877-879)ATT>TTT	p.I293F	JAK1_uc009wam.1_Missense_Mutation_p.I281F	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	293	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCTGATGAAATCAGTAACATG	0.423			Mis		ALL								A	65332662	T	A	65332662	3	1	27	1	0	0	0	0	1	0	0	0	7937	1435	50	5	2663	5	JAK1	1	65332662	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	212268	65332662	183917959	268	24219											
DNAJC6	9829	broad.mit.edu	37	chr1	65851520	65851520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacagaggaatggatgtcGcccttactgtgatgtactca	10	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:65851520G>A	uc001dcd.1	+	7	919	c.755G>A	c.(754-756)CGC>CAC	p.R252H	DNAJC6_uc001dcc.1_Missense_Mutation_p.R283H|DNAJC6_uc010opc.1_Missense_Mutation_p.R239H|DNAJC6_uc001dce.1_Missense_Mutation_p.R309H	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	252	C2 tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						AATGGATGTCGCCCTTACTGT	0.418													A	65851520	G	A	65851520	3	1	27	1	0	0	0	0	1	0	0	0	4653	1087	38	1	781	1	DNAJC6	1	65851520	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	518858	65851520	183399101	269	24220											
DNAJC6	9829	broad.mit.edu	37	chr1	65871610	65871610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggattgggtggaggattccCgcctctcagctcgccacaga	13	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:65871610C>T	uc001dcd.1	+	16	2278	c.2114C>T	c.(2113-2115)CCG>CTG	p.P705L	DNAJC6_uc010opc.1_Missense_Mutation_p.P692L|DNAJC6_uc001dce.1_Missense_Mutation_p.P762L	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	705	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						GGAGGATTCCCGCCTCTCAGC	0.537													T	65871610	C	T	65871610	3	4	27	1	0	0	0	0	1	0	0	0	4653	652	23	1	2176	1	DNAJC6	1	65871610	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	20090	65871610	183379011	270	24221											
DNAJC6	9829	broad.mit.edu	37	chr1	65878634	65878634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaccctatgaacaatacGcaaagatgattttcatggag	9	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:65878634G>A	uc001dcd.1	+	19	2832	c.2668G>A	c.(2668-2670)GCA>ACA	p.A890T	DNAJC6_uc010opc.1_Missense_Mutation_p.A877T|DNAJC6_uc001dce.1_Missense_Mutation_p.A947T	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	890	J.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						TGAACAATACGCAAAGATGAT	0.368													A	65878634	G	A	65878634	3	1	27	1	0	0	0	0	1	0	0	0	4653	1087	38	1	2742	1	DNAJC6	1	65878634	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	7024	65878634	183371987	271	24222											
LEPR	3953	broad.mit.edu	37	chr1	66102560	66102560	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagttctccaggacagttgCtcacactttgtagaaaataa	8	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:66102560C>A	uc001dci.2	+	20	3562	c.3360C>A	c.(3358-3360)TGC>TGA	p.C1120*	LEPR_uc009waq.2_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	1120	Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGGACAGTTGCTCACACTTTG	0.423													A	66102560	C	A	66102560	4	1	27	1	0	0	0	0	0	1	0	0	8728	805	28	5	3660	5	LEPR	1	66102560	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	223926	66102560	183148061	272	24223											
TCTEX1D1	200132	broad.mit.edu	37	chr1	67241991	67241991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacattttcctgtggtcaccGtcaatcatattttgaaagat	6	8	3	2	rs149149763		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:67241991G>A	uc001dcv.2	+	4	372	c.241G>A	c.(241-243)GTC>ATC	p.V81I	TCTEX1D1_uc009wau.2_RNA|TCTEX1D1_uc009wav.2_Intron	NM_152665	NP_689878	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	81											0						TGTGGTCACCGTCAATCATAT	0.373													A	67241991	G	A	67241991	3	1	27	1	0	0	0	0	1	0	0	0	15716	1145	40	1	251	1	TCTEX1D1	1	67241991	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1139431	67241991	182008630	273	24224											
WDR78	79819	broad.mit.edu	37	chr1	67356835	67356835	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaacaagtatattttcattAcctgtgaaactagtcaatct	4	7	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:67356835A>G	uc001dcx.2	-	4	699	c.643_splice	c.e4+1	p.D215_splice	WDR78_uc001dcy.2_Splice_Site_p.D215_splice|WDR78_uc001dcz.2_Splice_Site_p.D215_splice|WDR78_uc009wax.2_5'Flank	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1											ovary(2)	2						TATTTTCATTACCTGTGAAAC	0.328													G	67356835	A	G	67356835	5	3	27	1	0	0	0	0	0	0	1	0	17325	405	14	3	2014	3	WDR78	1	67356835	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	114844	67356835	181893786	274	24225											
MIER1	57708	broad.mit.edu	37	chr1	67411924	67411924	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacgaacattagaagaggaAgaaatgatggaaggagaaac	13	3	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:67411924A>G	uc001dde.2	+	4	419	c.285A>G	c.(283-285)GAA>GAG	p.E95E	MIER1_uc001dda.3_3'UTR|MIER1_uc010opf.1_Silent_p.E59E|MIER1_uc009way.2_Silent_p.E59E|MIER1_uc001ddc.2_Silent_p.E95E|MIER1_uc001ddh.2_Intron|MIER1_uc001ddf.2_Silent_p.E59E|MIER1_uc001ddg.2_Silent_p.E15E|MIER1_uc010opg.1_Silent_p.E59E|MIER1_uc001ddj.1_Silent_p.E42E|MIER1_uc001ddi.2_Silent_p.E42E	NM_001077700	NP_001071168	Q8N108	MIER1_HUMAN	mesoderm induction early response 1 isoform b	66	Glu-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)	1						TAGAAGAGGAAGAAATGATGG	0.383													G	67411924	A	G	67411924	2	3	27	1	0	0	0	0	0	0	0	1	9580	69	3	3		3	MIER1	1	67411924	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	55089	67411924	181838697	275	24226											
SLC35D1	23169	broad.mit.edu	37	chr1	67512970	67512970	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatctaatttttgttttAcgtatgcaccatttgctgct	6	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:67512970A>G	uc001ddk.2	-	7	998	c.614T>C	c.(613-615)GTA>GCA	p.V205A	SLC35D1_uc010oph.1_Missense_Mutation_p.V126A	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-glucuronic	205	Helical; (Potential).				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity				0					Lorazepam(DB00186)	TTTTTGTTTTACGTATGCACC	0.358													G	67512970	A	G	67512970	3	3	27	1	0	0	0	0	1	0	0	0	14581	391	14	3	477	3	SLC35D1	1	67512970	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	101046	67512970	181737651	276	24227											
IL23R	149233	broad.mit.edu	37	chr1	67721560	67721560	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttaataccaaagtggcttTatgaagatattcctaatatg	7	5	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:67721560T>C	uc001ddo.2	+	10	1274	c.1189T>C	c.(1189-1191)TAT>CAT	p.Y397H	IL23R_uc009waz.2_Missense_Mutation_p.Y194H|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_5'UTR|IL23R_uc010opk.1_Intron|IL23R_uc010opl.1_Intron|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Missense_Mutation_p.Y143H|IL23R_uc010opn.1_Missense_Mutation_p.Y242H|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Missense_Mutation_p.Y256H|IL23R_uc010opp.1_RNA|IL23R_uc010opq.1_Missense_Mutation_p.Y226H|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_Missense_Mutation_p.Y194H|IL23R_uc010opt.1_Missense_Mutation_p.Y38H|IL23R_uc010opu.1_Missense_Mutation_p.Y93H|IL23R_uc010opv.1_Missense_Mutation_p.Y155H|IL23R_uc010opw.1_Missense_Mutation_p.Y32H|IL23R_uc010opx.1_Missense_Mutation_p.Y38H|IL23R_uc010opy.1_Missense_Mutation_p.Y164H|IL23R_uc010opz.1_Missense_Mutation_p.Y38H|IL23R_uc010oqa.1_Missense_Mutation_p.Y38H|IL23R_uc010oqb.1_Missense_Mutation_p.Y226H|IL23R_uc010oqc.1_Missense_Mutation_p.Y113H|IL23R_uc010oqd.1_Missense_Mutation_p.Y32H|IL23R_uc010oqe.1_5'UTR|IL23R_uc010oqf.1_5'UTR|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_Missense_Mutation_p.Y38H|IL23R_uc001dds.2_Missense_Mutation_p.Y142H|IL23R_uc001ddt.2_5'UTR	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	397	Cytoplasmic (Potential).				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity				0						AAAGTGGCTTTATGAAGATAT	0.338													C	67721560	T	C	67721560	3	2	27	1	0	0	0	0	1	0	0	0	7676	1754	61	3	1223	3	IL23R	1	67721560	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	208590	67721560	181529061	277	24228											
IL12RB2	3595	broad.mit.edu	37	chr1	67787284	67787284	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgcatctgtatcttattgcaGatgcgtgcaagagaggcgat	12	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:67787284G>C	uc001ddu.2	+	3	717	c.77_splice	c.e3-1	p.D26_splice	IL12RB2_uc010oqi.1_Splice_Site_p.D26_splice|IL12RB2_uc010oqj.1_Splice_Site_p.D26_splice|IL12RB2_uc010oqk.1_Splice_Site|IL12RB2_uc010oql.1_Splice_Site_p.D26_splice|IL12RB2_uc010oqm.1_Splice_Site_p.D26_splice|IL12RB2_uc010oqn.1_Splice_Site	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor						positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						TCTTATTGCAGATGCGTGCAA	0.383													C	67787284	G	C	67787284	5	2	27	1	0	0	0	0	0	0	1	0	7627	956	33	5	82	5	IL12RB2	1	67787284	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	65724	67787284	181463337	278	24229											
GNG12	55970	broad.mit.edu	37	chr1	68171151	68171151	+	Frame_Shift_Del	DEL	T	T	-													ccactataagatgatgcaagTttttttatccttgaaagggt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:68171150_68171150GT>G	uc001dea.2	-	3	408	c.203_203AC>C	c.(202-204)actfs	p.T68fs		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 12 (GNG12), mRNA.	68					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						GATGATGCAAGTTTTTTTATC	0.433													-	68171151	T	-	68171151	7	5	27	1	0	1	0	1	0	0	0	0	6525	1725	60	0	20	0	GNG12	1	68171151	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	383867	68171151	181079470	279	24230											
LRRC7	57554	broad.mit.edu	37	chr1	70226075	70226075	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaattgaagaactacccaAggtaacttttgacaacctaa	5	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:70226075A>G	uc001dep.2	+	1	218	c.188A>G	c.(187-189)AAG>AGG	p.K63R	LRRC7_uc001deo.1_Missense_Mutation_p.K101R|LRRC7_uc009wbg.2_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	63	LRR 2.					centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						GAACTACCCAAGGTAACTTTT	0.353													G	70226075	A	G	70226075	3	3	27	1	0	0	0	0	1	0	0	0	9020	86	3	3	190	3	LRRC7	1	70226075	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2054924	70226075	179024546	280	24231											
LRRC7	57554	broad.mit.edu	37	chr1	70504911	70504911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatctgtgaatgaggatgCtgtggtgaatgcccagttcg	14	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:70504911C>T	uc001dep.2	+	19	3320	c.3290C>T	c.(3289-3291)GCT>GTT	p.A1097V	LRRC7_uc009wbg.2_Missense_Mutation_p.A381V|LRRC7_uc001deq.2_Missense_Mutation_p.A338V	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1097						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						AATGAGGATGCTGTGGTGAAT	0.517													T	70504911	C	T	70504911	3	4	27	1	0	0	0	0	1	0	0	0	9020	797	28	2	3364	2	LRRC7	1	70504911	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	278836	70504911	178745710	281	24232											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507220	74507221	+	Frame_Shift_Ins	INS	-	-	T													ttagtttttgtgtagcatatINStttttctgattcaaatgttc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:74507219_74507220A>AT	uc001dfy.4	-	6	1587_1588	c.1395_1396T>AT	c.(1393-1398)aaatatfs	p.K465fs	LRRIQ3_uc001dfz.4_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	465										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TGTGTAGCATATTTTTTCTGAT	0.337													T	74507221	-	T	74507220	7	5	27	1	0	1	1	0	0	0	0	0	9030	1490	52	0	487	0	LRRIQ3	1	74507220	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	4002309	74507220	174743401	282	24233											
TNNI3K	51086	broad.mit.edu	37	chr1	74737329	74737329	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcacagtggagctgatatAcagcaggttggatacggtgg	14	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:74737329A>G	uc001dgf.1	+	5	432	c.381A>G	c.(379-381)ATA>ATG	p.I127M	TNNI3K_uc001dgc.1_Missense_Mutation_p.I228M|TNNI3K_uc001dgd.2_Missense_Mutation_p.I228M|TNNI3K_uc001dge.1_Missense_Mutation_p.I228M	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	127	ANK 2.			I -> V (in Ref. 8; AAH32865).		cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						GAGCTGATATACAGCAGGTTG	0.428													G	74737329	A	G	74737329	3	3	27	1	0	0	0	0	1	0	0	0	16326	381	14	3	754	3	TNNI3K	1	74737329	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	230109	74737329	174513292	283	24234											
C1orf173	127254	broad.mit.edu	37	chr1	75036811	75036811	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaagtctcctagacctgcAcgttgttgggggaaacatct	11	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:75036811A>G	uc001dgg.2	-	14	4802	c.4583T>C	c.(4582-4584)ATG>ACG	p.M1528T		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1528										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						CTAGACCTGCACGTTGTTGGG	0.522													G	75036811	A	G	75036811	3	3	27	1	0	0	0	0	1	0	0	0	2014	159	6	3	13	3	C1orf173	1	75036811	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	299482	75036811	174213810	284	24235											
C1orf173	127254	broad.mit.edu	37	chr1	75072508	75072508	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagccttcttcagttcCtctcctttctcagtgctctt	4	17	6	0	rs138387900	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:75072508C>A	uc001dgg.2	-	10	1485	c.1266G>T	c.(1264-1266)GAG>GAT	p.E422D	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.E216D	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	422	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						TCTTCAGTTCCTCTCCTTTCT	0.403													A	75072508	C	A	75072508	3	1	27	1	0	0	0	0	1	0	0	0	2014	680	24	5	3346	5	C1orf173	1	75072508	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	35697	75072508	174178113	285	24236											
CRYZ	1429	broad.mit.edu	37	chr1	75175906	75175906	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctttaagccataagctctaGcaatttggcatgctgctaat	7	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:75175906G>T	uc001dgk.2	-	7	1011	c.506C>A	c.(505-507)GCT>GAT	p.A169D	CRYZ_uc001dgj.2_Missense_Mutation_p.A169D|CRYZ_uc001dgl.2_Missense_Mutation_p.A169D|CRYZ_uc001dgm.2_Missense_Mutation_p.A32D	NM_001130042	NP_001123514	Q08257	QOR_HUMAN	crystallin, zeta isoform a	169					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding				0					Dicumarol(DB00266)	ATAAGCTCTAGCAATTTGGCA	0.368													T	75175906	G	T	75175906	3	4	27	1	0	0	0	0	1	0	0	0	3922	971	34	5	499	5	CRYZ	1	75175906	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	103398	75175906	174074715	286	24237											
ASB17	127247	broad.mit.edu	37	chr1	76384670	76384670	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagatagttttgtagacgAgcaggaattagaagtgaaaa	11	3	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:76384670A>G	uc001dhe.1	-	3	995	c.855T>C	c.(853-855)GCT>GCC	p.A285A	ASB17_uc001dhf.1_RNA	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box-containing 17	285	SOCS box.				intracellular signal transduction					ovary(1)	1						TTTGTAGACGAGCAGGAATTA	0.333													G	76384670	A	G	76384670	2	3	27	1	0	0	0	0	0	0	0	1	1021	291	11	3		3	ASB17	1	76384670	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1208764	76384670	172865951	287	24238											
ASB17	127247	broad.mit.edu	37	chr1	76387916	76387916	+	Frame_Shift_Del	DEL	T	T	-													ttaagacaatgttgatagggTttttttctctttctaagatt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:76387915_76387915GT>G	uc001dhe.2	-	1	671	c.531_531AC>C	c.(529-531)aacfs	p.N177fs	ASB17_uc001dhf.2_Non-coding_Transcript	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 17 (ASB17), transcript variant 1, mRNA.	177					intracellular signal transduction			p.N177fs*21(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TGTTGATAGGGTTTTTTTCTC	0.363													-	76387916	T	-	76387916	7	5	27	1	0	1	0	1	0	0	0	0	1021	1725	60	0	365	0	ASB17	1	76387916	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	3246	76387916	172862705	288	24239											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77528783	77528783	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccgctttatcacagagaaAcgagtctttaagaactgggc	9	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:77528783A>G	uc001dhi.2	+	5	1078	c.903A>G	c.(901-903)AAA>AAG	p.K301K	ST6GALNAC5_uc010ori.1_3'UTR|ST6GALNAC5_uc009wbw.2_RNA|ST6GALNAC5_uc001dhj.2_5'Flank	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	sialyltransferase 7E	301	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			pancreas(1)|skin(1)	2						TCACAGAGAAACGAGTCTTTA	0.413													G	77528783	A	G	77528783	2	3	27	1	0	0	0	0	0	0	0	1	15226	40	2	3		3	ST6GALNAC5	1	77528783	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1140867	77528783	171721838	289	24240											
USP33	23032	broad.mit.edu	37	chr1	78163606	78163606	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttagtattgtcaataggAcctggaggatctaaaggaaa	10	5	3	0	rs35826044		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:78163606A>G	uc001dht.2	-	24	2960	c.2613T>C	c.(2611-2613)GGT>GGC	p.G871G	USP33_uc009wca.1_RNA|USP33_uc001dhs.2_Missense_Mutation_p.V558A|USP33_uc001dhu.2_Silent_p.G840G	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	871	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3						TGTCAATAGGACCTGGAGGAT	0.308													G	78163606	A	G	78163606	2	3	27	1	0	0	0	0	0	0	0	1	17061	262	10	3		3	USP33	1	78163606	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	634823	78163606	171087015	290	24241											
USP33	23032	broad.mit.edu	37	chr1	78194238	78194238	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctctatcactgttgctacAagattcacaagactgaaaat	6	9	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:78194238A>G	uc001dht.2	-	11	1317	c.970T>C	c.(970-972)TGT>CGT	p.C324R	USP33_uc001dhs.2_Missense_Mutation_p.C45R|USP33_uc001dhu.2_Missense_Mutation_p.C293R|USP33_uc001dhv.2_Missense_Mutation_p.C129R|USP33_uc001dhw.2_Missense_Mutation_p.C324R	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	324					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3						CTGTTGCTACAAGATTCACAA	0.373													G	78194238	A	G	78194238	3	3	27	1	0	0	0	0	1	0	0	0	17061	130	5	3	1930	3	USP33	1	78194238	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	30632	78194238	171056383	291	24242											
USP33	23032	broad.mit.edu	37	chr1	78205094	78205094	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttcacagttagataatgCtttgtctcctatataatttc	6	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:78205094C>T	uc001dht.2	-	6	647	c.300G>A	c.(298-300)AAG>AAA	p.K100K	USP33_uc001dhu.2_Silent_p.K69K|USP33_uc001dhv.2_5'UTR|USP33_uc001dhw.2_Silent_p.K100K	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	100	UBP-type.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3						TTAGATAATGCTTTGTCTCCT	0.353													T	78205094	C	T	78205094	2	4	27	1	0	0	0	0	0	0	0	1	17061	796	28	2		2	USP33	1	78205094	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	10856	78205094	171045527	292	24243											
USP33	23032	broad.mit.edu	37	chr1	78207399	78207399	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acattttgttaggaatttttTcctgtttcccaagactttca	5	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:78207399T>C	uc001dht.2	-	3	424	c.77A>G	c.(76-78)GAA>GGA	p.E26G	USP33_uc001dhu.2_5'UTR|USP33_uc001dhv.2_5'Flank|USP33_uc001dhw.2_Missense_Mutation_p.E26G	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	26					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3						AGGAATTTTTTCCTGTTTCCC	0.308													C	78207399	T	C	78207399	3	2	27	1	0	0	0	0	1	0	0	0	17061	1783	62	3	2855	3	USP33	1	78207399	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2305	78207399	171043222	293	24244											
FUBP1	8880	broad.mit.edu	37	chr1	78425903	78425903	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcctgctgctgccagtgtggAtatgcatttccccatccctg	10	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:78425903A>T	uc001dii.2	-	16	1631	c.1542T>A	c.(1540-1542)TAT>TAA	p.Y514*	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Nonsense_Mutation_p.Y535*	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	514	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3						GCCAGTGTGGATATGCATTTC	0.413													T	78425903	A	T	78425903	4	4	27	1	0	0	0	0	0	1	0	0	6092	340	12	5	412	5	FUBP1	1	78425903	Nonsense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	218504	78425903	170824718	294	24245											
FUBP1	8880	broad.mit.edu	37	chr1	78429943	78429943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattatatgtactcacctggCttaaactgaatgcgaacacc	6	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:78429943C>T	uc001dii.2	-	11	1025	c.936G>A	c.(934-936)AAG>AAA	p.K312K	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Silent_p.K333K	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	312	KH 3.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3						ACTCACCTGGCTTAAACTGAA	0.333													T	78429943	C	T	78429943	2	4	27	1	0	0	0	0	0	0	0	1	6092	796	28	2		2	FUBP1	1	78429943	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4040	78429943	170820678	295	24246											
IFI44L	10964	broad.mit.edu	37	chr1	79101048	79101049	+	Frame_Shift_Ins	INS	-	-	A													tatattctgttaaagatggaINSaaaaatggaaaatctctgcc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:79101047_79101048G>GA	uc010oro.2	+	4	928_929	c.749_750G>GA	c.(748-750)ggafs	p.G250fs	IFI44L_uc010orp.2_5'UTR|IFI44L_uc010orq.2_5'UTR	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	Homo sapiens interferon-induced protein 44-like (IFI44L), mRNA.	250						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GTTAAAGATGGAAAAAATGGAA	0.371													A	79101049	-	A	79101048	7	5	27	1	0	1	1	0	0	0	0	0	7518	233	9	0	764	0	IFI44L	1	79101048	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	671105	79101048	170149573	296	24247											
LPHN2	23266	broad.mit.edu	37	chr1	82432273	82432273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgactgatcctgtgcttTttaccctgccacacattgat	6	13	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:82432273T>C	uc001dit.3	+	12	2459	c.2278T>C	c.(2278-2280)TTT>CTT	p.F760L	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.F760L|LPHN2_uc001div.2_Missense_Mutation_p.F760L|LPHN2_uc009wcd.2_Missense_Mutation_p.F760L|LPHN2_uc001diw.2_Missense_Mutation_p.F344L	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	773	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCCTGTGCTTTTTACCCTGCC	0.393													C	82432273	T	C	82432273	3	2	27	1	0	0	0	0	1	0	0	0	8916	1841	64	3	2316	3	LPHN2	1	82432273	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3331225	82432273	166818348	297	24248											
LPHN2	23266	broad.mit.edu	37	chr1	82436047	82436047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactttttctttttggcagCttttgcttggatgtgcctag	9	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:82436047C>T	uc001dit.3	+	15	2913	c.2732C>T	c.(2731-2733)GCT>GTT	p.A911V	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.A911V|LPHN2_uc001div.2_Missense_Mutation_p.A911V|LPHN2_uc009wcd.2_Missense_Mutation_p.A911V|LPHN2_uc001diw.2_Missense_Mutation_p.A495V|LPHN2_uc009wce.1_5'UTR	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	924	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTTTTGGCAGCTTTTGCTTGG	0.348													T	82436047	C	T	82436047	3	4	27	1	0	0	0	0	1	0	0	0	8916	797	28	2	2782	2	LPHN2	1	82436047	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3774	82436047	166814574	298	24249											
LPHN2	23266	broad.mit.edu	37	chr1	82447656	82447656	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcactgtgctctccaaaAgaaagtaagtaattgaaaac	6	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:82447656A>G	uc001dit.3	+	18	3408	c.3227A>G	c.(3226-3228)AAG>AGG	p.K1076R	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.K1076R|LPHN2_uc001div.2_Missense_Mutation_p.K1076R|LPHN2_uc009wcd.2_Missense_Mutation_p.K1076R|LPHN2_uc001diw.2_Missense_Mutation_p.K660R|LPHN2_uc009wce.1_Missense_Mutation_p.K177R	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1089	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GCTCTCCAAAAGAAAGTAAGT	0.318													G	82447656	A	G	82447656	3	3	27	1	0	0	0	0	1	0	0	0	8916	72	3	3	3289	3	LPHN2	1	82447656	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	11609	82447656	166802965	299	24250											
LPHN2	23266	broad.mit.edu	37	chr1	82456638	82456638	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaagaagacctctctcccTccaggaggagtgagaatgag	13	9	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:82456638T>C	uc001dit.3	+	21	4202	c.4021T>C	c.(4021-4023)TCC>CCC	p.S1341P	LPHN2_uc001dis.2_Missense_Mutation_p.S321P|LPHN2_uc001diu.2_Missense_Mutation_p.S1341P|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.S968P	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1397	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CCTCTCTCCCTCCAGGAGGAG	0.318													C	82456638	T	C	82456638	3	2	27	1	0	0	0	0	1	0	0	0	8916	1551	54	3	4095	3	LPHN2	1	82456638	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	8982	82456638	166793983	300	24251											
TTLL7	79739	broad.mit.edu	37	chr1	84394887	84394887	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatagtctattttctgatcAgttccaaagcttggggctcg	9	9	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:84394887A>G	uc001djc.2	-	10	1470	c.1074T>C	c.(1072-1074)ACT>ACC	p.T358T	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	358	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTTTCTGATCAGTTCCAAAGC	0.328													G	84394887	A	G	84394887	2	3	27	1	0	0	0	0	0	0	0	1	16729	175	7	3		3	TTLL7	1	84394887	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1938249	84394887	164855734	301	24252											
TTLL7	79739	broad.mit.edu	37	chr1	84403686	84403686	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggagtagtttgtcagatgcAtgtataactgggtctgtaac	12	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:84403686A>G	uc001djc.2	-	8	1133	c.737T>C	c.(736-738)ATG>ACG	p.M246T	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	246	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TGTCAGATGCATGTATAACTG	0.393													G	84403686	A	G	84403686	3	3	27	1	0	0	0	0	1	0	0	0	16729	217	8	3	1982	3	TTLL7	1	84403686	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	8799	84403686	164846935	302	24253											
TTLL7	79739	broad.mit.edu	37	chr1	84417647	84417647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattcaaatccaggggagagGgtccctgaataactttaaaa	9	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:84417647G>A	uc001djc.2	-	3	434	c.38C>T	c.(37-39)CCC>CTC	p.P13L	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	13				P -> S (in Ref. 1; AAO37763).	cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CAGGGGAGAGGGTCCCTGAAT	0.373													A	84417647	G	A	84417647	3	1	27	1	0	0	0	0	1	0	0	0	16729	1232	43	4	2701	4	TTLL7	1	84417647	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	13961	84417647	164832974	303	24254											
DNASE2B	58511	broad.mit.edu	37	chr1	84864327	84864327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctttggggtgctgggggCagcaacaatttcatgcagaa	13	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:84864327C>T	uc001djt.1	+	1	113	c.80C>T	c.(79-81)GCA>GTA	p.A27V	UOX_uc009wcg.2_5'Flank	NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta isoform 1 precursor	27					DNA metabolic process	lysosome	deoxyribonuclease II activity				0				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		GTGCTGGGGGCAGCAACAATT	0.463								Direct_reversal_of_damage					T	84864327	C	T	84864327	3	4	27	1	0	0	0	0	1	0	0	0	4665	710	25	2	82	2	DNASE2B	1	84864327	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	446680	84864327	164386294	304	24255											
RPF1	80135	broad.mit.edu	37	chr1	84961748	84961748	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattcttcagatttcacaggTgaggaaggtaaactcattga	9	6	4	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:84961748T>C	uc001djv.3	+	7	926	c.881_splice	c.e7+2	p.R294_splice		NM_025065	NP_079341	Q9H9Y2	RPF1_HUMAN	RNA processing factor 1						rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding				0						ATTTCACAGGTGAGGAAGGTA	0.328													C	84961748	T	C	84961748	5	2	27	1	0	0	0	0	0	0	1	0	13546	1710	59	3	909	3	RPF1	1	84961748	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	97421	84961748	164288873	305	24256											
SPATA1	64173	broad.mit.edu	37	chr1	84986284	84986284	+	Frame_Shift_Del	DEL	T	T	-													tcagttggtggaacttcatgTtttttatgtccctgaaggat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:84986284delT	uc001djz.1	+	3	318	c.119delT	c.(118-120)GTTfs	p.V40fs	SPATA1_uc001djx.2_Frame_Shift_Del_p.V40fs|SPATA1_uc001djy.1_RNA	NM_001081472	NP_001074941			spermatogenesis associated 1											central_nervous_system(1)	1				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		GAACTTCATGTTTTTTATGTC	0.294													-	84986284	T	-	84986284	7	5	27	1	0	1	0	1	0	0	0	0	14997	1725	60	0	125	0	SPATA1	1	84986284	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	24536	84986284	164264337	306	24257											
SSX2IP	117178	broad.mit.edu	37	chr1	85128059	85128059	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatacatttcatcttcattcCtgagaaagaaactgtcagta	5	8	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:85128059C>T	uc001dkh.2	-	9	1025	c.750_splice	c.e9-1	p.R250_splice	SSX2IP_uc001dkf.2_Splice_Site_p.R223_splice|SSX2IP_uc001dkg.2_Splice_Site|SSX2IP_uc010orz.1_Splice_Site_p.R223_splice|SSX2IP_uc001dki.2_Splice_Site_p.R250_splice|SSX2IP_uc010osa.1_Splice_Site_p.R223_splice|SSX2IP_uc001dkj.2_Splice_Site_p.R250_splice|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Splice_Site_p.R246_splice	NM_014021	NP_054740	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting						cell adhesion	nucleus|protein complex				ovary(2)	2				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ATCTTCATTCCTGAGAAAGAA	0.328													T	85128059	C	T	85128059	5	4	27	1	0	0	0	0	0	0	1	0	15203	695	24	4	1123	4	SSX2IP	1	85128059	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	141775	85128059	164122562	307	24258											
LPAR3	23566	broad.mit.edu	37	chr1	85279740	85279740	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggttcacgacggagttgAgcagcgccagcagcaggaac	16	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:85279740A>C	uc001dkl.2	-	2	890	c.851T>G	c.(850-852)CTC>CGC	p.L284R	LPAR3_uc009wcj.1_Missense_Mutation_p.L284R	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	284	Helical; Name=7; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				lung(3)|ovary(2)	5						GACGGAGTTGAGCAGCGCCAG	0.577													C	85279740	A	C	85279740	3	2	27	1	0	0	0	0	1	0	0	0	8906	304	11	5	214	5	LPAR3	1	85279740	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	151681	85279740	163970881	308	24259											
MCOLN3	55283	broad.mit.edu	37	chr1	85484879	85484879	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attttccagagttgggtagaTctttgcattctgatataaat	8	5	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:85484879T>A	uc001dkp.2	-	13	1682	c.1589A>T	c.(1588-1590)GAT>GTT	p.D530V	MCOLN3_uc001dko.2_Missense_Mutation_p.D149V|MCOLN3_uc001dkq.2_Missense_Mutation_p.D474V	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	mucolipin 3	530						integral to membrane	ion channel activity			skin(1)	1				all cancers(265;0.00957)|Epithelial(280;0.0254)		GTTGGGTAGATCTTTGCATTC	0.348													A	85484879	T	A	85484879	3	1	27	1	0	0	0	0	1	0	0	0	9397	1435	50	5	76	5	MCOLN3	1	85484879	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	205139	85484879	163765742	309	24260											
CLCA2	9635	broad.mit.edu	37	chr1	86891127	86891127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacatggaaagctaataatAacagcaaaataaaacaagaa	5	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:86891127A>G	uc001dlr.3	+	2	454	c.292A>G	c.(292-294)AAC>GAC	p.N98D		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	98	Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)|skin(1)	3		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AGCTAATAATAACAGCAAAAT	0.299													G	86891127	A	G	86891127	3	3	27	1	0	0	0	0	1	0	0	0	3458	362	13	3	298	3	CLCA2	1	86891127	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1406248	86891127	162359494	310	24261											
CLCA4	22802	broad.mit.edu	37	chr1	87026013	87026013	+	Frame_Shift_Del	DEL	A	A	-													acccctgaccttctacttggAaaaaaacaaaatgaatatgg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:87026012_87026012GA>G	uc009wcs.3	+	2	463	c.419_419GA>G	c.(418-420)ggafs	p.G140fs	CLCA4_uc009wct.3_5'UTR|CLCA4_uc009wcu.3_Intron	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	140						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CTTCTACTTGGAAAAAAACAA	0.398													-	87026013	A	-	87026013	7	5	27	1	0	1	0	1	0	0	0	0	3459	233	9	0	430	0	CLCA4	1	87026013	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	134886	87026013	162224608	311	24262											
HS2ST1	9653	broad.mit.edu	37	chr1	87563585	87563585	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agagaagctctggcttcaaaTcccgttcttctgtggccata	9	11	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:87563585T>A	uc010osk.1	+	5	1038	c.653T>A	c.(652-654)ATC>AAC	p.I218N	HS2ST1_uc001dmc.3_Missense_Mutation_p.I218N|LOC339524_uc001dme.1_Missense_Mutation_p.I179N	NM_012262	NP_036394	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1 isoform	218	Lumenal (Potential).					Golgi membrane|integral to membrane				central_nervous_system(1)	1		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		TGGCTTCAAATCCCGTTCTTC	0.443													A	87563585	T	A	87563585	3	1	27	1	0	0	0	0	1	0	0	0	7362	1435	50	5	671	5	HS2ST1	1	87563585	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	537572	87563585	161687036	312	24263											
PKN2	5586	broad.mit.edu	37	chr1	89226053	89226053	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatgtattcaaatggatcTtcaaaggtaagtgtagttaa	9	4	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:89226053T>C	uc001dmn.2	+	3	840	c.498T>C	c.(496-498)TCT>TCC	p.S166S	PKN2_uc001dmm.1_Silent_p.S166S|PKN2_uc010osp.1_Silent_p.S166S|PKN2_uc010osq.1_Silent_p.S9S|PKN2_uc009wcv.2_Silent_p.S166S	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	166	REM 2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CAAATGGATCTTCAAAGGTAA	0.214													C	89226053	T	C	89226053	2	2	27	1	0	0	0	0	0	0	0	1	11980	1596	56	3		3	PKN2	1	89226053	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1662468	89226053	160024568	313	24264											
GTF2B	2959	broad.mit.edu	37	chr1	89323054	89323054	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagacaaaggttggaacagaAcctggacatgaagtccccag	11	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:89323054A>G	uc001dmo.3	-	6	771	c.652T>C	c.(652-654)TTC>CTC	p.F218L		NM_001514	NP_001505	Q00403	TF2B_HUMAN	general transcription factor IIB	218	2.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		TTGGAACAGAACCTGGACATG	0.433													G	89323054	A	G	89323054	3	3	27	1	0	0	0	0	1	0	0	0	6855	43	2	3	306	3	GTF2B	1	89323054	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	97001	89323054	159927567	314	24265											
GBP1	2633	broad.mit.edu	37	chr1	89521797	89521797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtttcgaataaattcccgCcttcacttcttcttctagag	6	11	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:89521797C>T	uc001dmx.2	-	8	1490	c.1270G>A	c.(1270-1272)GCG>ACG	p.A424T		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	424					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TAAATTCCCGCCTTCACTTCT	0.438													T	89521797	C	T	89521797	3	4	27	1	0	0	0	0	1	0	0	0	6273	739	26	2	524	2	GBP1	1	89521797	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	198743	89521797	159728824	315	24266											
GBP1	2633	broad.mit.edu	37	chr1	89523757	89523757	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacagaagtctgctacttgTtgcacaaattcggggtccag	11	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:89523757T>C	uc001dmx.2	-	6	1012	c.792A>G	c.(790-792)CAA>CAG	p.Q264Q		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	264					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CTGCTACTTGTTGCACAAATT	0.468													C	89523757	T	C	89523757	2	2	27	1	0	0	0	0	0	0	0	1	6273	1722	60	3		3	GBP1	1	89523757	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1960	89523757	159726864	316	24267											
GBP5	115362	broad.mit.edu	37	chr1	89727976	89727976	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatctccatttgtctcactTgttcctgatggagtctctcc	6	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:89727976T>C	uc001dnc.2	-	11	2111	c.1574A>G	c.(1573-1575)CAA>CGA	p.Q525R	GBP5_uc001dnd.2_Missense_Mutation_p.Q525R	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	525						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)		TTGTCTCACTTGTTCCTGATG	0.468													C	89727976	T	C	89727976	3	2	27	1	0	0	0	0	1	0	0	0	6277	1812	63	3	194	3	GBP5	1	89727976	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	204219	89727976	159522645	317	24268											
LRRC8D	55144	broad.mit.edu	37	chr1	90400154	90400154	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctaaaattcctgctaagatTtctcaaatgactaacctcca	4	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:90400154T>C	uc001dnm.2	+	3	1952	c.1527T>C	c.(1525-1527)ATT>ATC	p.I509I	LRRC8D_uc001dnn.2_Silent_p.I509I	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	509						integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CTGCTAAGATTTCTCAAATGA	0.473													C	90400154	T	C	90400154	2	2	27	1	0	0	0	0	0	0	0	1	9024	1829	64	3		3	LRRC8D	1	90400154	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	672178	90400154	158850467	318	24269											
BARHL2	343472	broad.mit.edu	37	chr1	91180132	91180132	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acttgggtgtcagtgaggttGagcgctgcagccaggtccat	15	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:91180132G>A	uc001dns.2	-	2	849	c.807C>T	c.(805-807)CTC>CTT	p.L269L		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	269	Homeobox.					nucleus	sequence-specific DNA binding			ovary(1)	1		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CAGTGAGGTTGAGCGCTGCAG	0.547													A	91180132	G	A	91180132	2	1	27	1	0	0	0	0	0	0	0	1	1314	1277	45	4		4	BARHL2	1	91180132	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	779978	91180132	158070489	319	24270											
ZNF644	84146	broad.mit.edu	37	chr1	91382481	91382481	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agattagcgtttacaatatgTcgttgtaagtgcttaatcca	8	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:91382481T>A	uc001dnw.2	-	6	4000	c.3858A>T	c.(3856-3858)CGA>CGT	p.R1286R	ZNF644_uc001dnv.2_Silent_p.R64R|ZNF644_uc001dnx.2_Silent_p.R64R	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	1286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTACAATATGTCGTTGTAAGT	0.428													A	91382481	T	A	91382481	2	1	27	1	0	0	0	0	0	0	0	1	18057	1654	58	5		5	ZNF644	1	91382481	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	202349	91382481	157868140	320	24271											
HFM1	164045	broad.mit.edu	37	chr1	91779569	91779569	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcagatttaagagctcttttCacagcaatctttttagccca	5	10	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:91779569C>T	uc001doa.3	-	29	3289	c.3189G>A	c.(3187-3189)GTG>GTA	p.V1063V	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Silent_p.V742V|HFM1_uc001dob.3_Silent_p.V251V|HFM1_uc010osv.1_Silent_p.V747V	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	1063	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GAGCTCTTTTCACAGCAATCT	0.279													T	91779569	C	T	91779569	2	4	27	1	0	0	0	0	0	0	0	1	7083	813	29	4		4	HFM1	1	91779569	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	397088	91779569	157471052	321	24272											
HFM1	164045	broad.mit.edu	37	chr1	91816380	91816380	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atattcacatccgtgatggtAtgcagtactatctctgcatt	7	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:91816380A>G	uc001doa.3	-	18	2221	c.2121T>C	c.(2119-2121)CAT>CAC	p.H707H	HFM1_uc009wdb.2_Intron|HFM1_uc010osu.1_Silent_p.H386H|HFM1_uc010osv.1_Silent_p.H391H	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	707	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CCGTGATGGTATGCAGTACTA	0.343													G	91816380	A	G	91816380	2	3	27	1	0	0	0	0	0	0	0	1	7083	446	16	3		3	HFM1	1	91816380	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	36811	91816380	157434241	322	24273											
BRDT	676	broad.mit.edu	37	chr1	92428390	92428390	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatactaagaaaaatgggCgattgacaaatcaacttcag	7	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:92428390C>T	uc001dok.3	+	2	428	c.79C>T	c.(79-81)CGA>TGA	p.R27*	BRDT_uc001dol.3_Nonsense_Mutation_p.R27*|BRDT_uc010osz.1_Nonsense_Mutation_p.R27*|BRDT_uc009wdf.2_Intron|BRDT_uc010ota.1_Nonsense_Mutation_p.R27*|BRDT_uc010otb.1_Nonsense_Mutation_p.R27*|BRDT_uc001dom.3_Nonsense_Mutation_p.R27*	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GAAAAATGGGCGATTGACAAA	0.378													T	92428390	C	T	92428390	4	4	27	1	0	0	0	0	0	1	0	0	1508	760	27	1	81	1	BRDT	1	92428390	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	612010	92428390	156822231	323	24274											
BRDT	676	broad.mit.edu	37	chr1	92433761	92433761	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgtttatgcagaaatTatctcagatgccacaagaag	9	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:92433761T>C	uc001dok.3	+	4	738	c.389T>C	c.(388-390)TTA>TCA	p.L130S	BRDT_uc001dol.3_Missense_Mutation_p.L130S|BRDT_uc010osz.1_Missense_Mutation_p.L130S|BRDT_uc009wdf.2_Missense_Mutation_p.L57S|BRDT_uc010ota.1_Missense_Mutation_p.L84S|BRDT_uc010otb.1_Missense_Mutation_p.L84S|BRDT_uc001dom.3_Missense_Mutation_p.L130S	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ATGCAGAAATTATCTCAGATG	0.368													C	92433761	T	C	92433761	3	2	27	1	0	0	0	0	1	0	0	0	1508	1764	61	3	399	3	BRDT	1	92433761	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	5371	92433761	156816860	324	24275											
BCAR3	8412	broad.mit.edu	37	chr1	94033334	94033334	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttgctgaagggcttcagCtgtttctcatagagaatggc	12	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:94033334C>T	uc001dpz.2	-	10	2324	c.2049G>A	c.(2047-2049)CAG>CAA	p.Q683Q	BCAR3_uc001dqa.2_Silent_p.Q683Q|BCAR3_uc001dqb.2_Silent_p.Q683Q|BCAR3_uc001dpx.3_Silent_p.Q359Q|BCAR3_uc001dpy.2_Silent_p.Q592Q	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	683	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGGGCTTCAGCTGTTTCTCAT	0.527													T	94033334	C	T	94033334	2	4	27	1	0	0	0	0	0	0	0	1	1349	796	28	2		2	BCAR3	1	94033334	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1599573	94033334	155217287	325	24276											
BCAR3	8412	broad.mit.edu	37	chr1	94049596	94049596	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcggcaggtagctctctgActggtgggctttgagggaca	15	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:94049596A>G	uc001dpz.2	-	6	1287	c.1012T>C	c.(1012-1014)TCA>CCA	p.S338P	BCAR3_uc001dqa.2_Missense_Mutation_p.S338P|BCAR3_uc001dqb.2_Missense_Mutation_p.S338P|BCAR3_uc001dpx.3_Missense_Mutation_p.S14P|BCAR3_uc001dpy.2_Missense_Mutation_p.S247P|BCAR3_uc009wdm.1_Missense_Mutation_p.S14P	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	338					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TAGCTCTCTGACTGGTGGGCT	0.507													G	94049596	A	G	94049596	3	3	27	1	0	0	0	0	1	0	0	0	1349	275	10	3	1493	3	BCAR3	1	94049596	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	16262	94049596	155201025	326	24277											
BCAR3	8412	broad.mit.edu	37	chr1	94054955	94054955	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactaggaagtcaccatctcGctgcacaaggttttcagaca	8	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:94054955G>A	uc001dpz.2	-	5	783	c.508C>T	c.(508-510)CGA>TGA	p.R170*	BCAR3_uc001dqa.2_Nonsense_Mutation_p.R170*|BCAR3_uc001dqb.2_Nonsense_Mutation_p.R170*|BCAR3_uc001dpy.2_Nonsense_Mutation_p.R79*|uc009wdn.2_5'Flank	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	170	SH2.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TCACCATCTCGCTGCACAAGG	0.483													A	94054955	G	A	94054955	4	1	27	1	0	0	0	0	0	1	0	0	1349	1095	38	1	2001	1	BCAR3	1	94054955	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5359	94054955	155195666	327	24278											
DNTTIP2	30836	broad.mit.edu	37	chr1	94335500	94335500	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagtacttccttcggttgtaTctgaaaaagaaaaatcagaa	8	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:94335500T>A	uc001dqf.2	-	7	2216	c.2178A>T	c.(2176-2178)AGA>AGT	p.R726S	DNTTIP2_uc010otm.1_RNA	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal,	726					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTCGGTTGTATCTGAAAAAGA	0.279													A	94335500	T	A	94335500	3	1	27	1	0	0	0	0	1	0	0	0	4682	1449	50	5	96	5	DNTTIP2	1	94335500	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	280545	94335500	154915121	328	24279											
DNTTIP2	30836	broad.mit.edu	37	chr1	94338708	94338708	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagttgatactttgattcActatatggtggaacacagtg	10	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:94338708A>G	uc001dqf.2	-	4	1907	c.1869T>C	c.(1867-1869)AGT>AGC	p.S623S	DNTTIP2_uc010otm.1_RNA	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal,	623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		ACTTTGATTCACTATATGGTG	0.303													G	94338708	A	G	94338708	2	3	27	1	0	0	0	0	0	0	0	1	4682	156	6	3		3	DNTTIP2	1	94338708	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3208	94338708	154911913	329	24280											
ABCA4	24	broad.mit.edu	37	chr1	94476478	94476478	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaacggatttgcagagtgCtcctcacctgggcatcaaca	11	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:94476478C>T	uc001dqh.2	-	40	5696	c.5592G>A	c.(5590-5592)GAG>GAA	p.E1864E	ABCA4_uc001dqi.1_5'UTR|ABCA4_uc009wdp.1_Silent_p.E132E	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	1864					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTGCAGAGTGCTCCTCACCTG	0.592													T	94476478	C	T	94476478	2	4	27	1	0	0	0	0	0	0	0	1	34	796	28	2		2	ABCA4	1	94476478	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	137770	94476478	154774143	330	24281											
ABCA4	24	broad.mit.edu	37	chr1	94544162	94544162	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttactctgatcatgttcatcTgtgtgctgttgtcaaagaag	9	7	5	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:94544162T>C	uc001dqh.2	-	10	1444	c.1340A>G	c.(1339-1341)CAG>CGG	p.Q447R	ABCA4_uc010otn.1_Missense_Mutation_p.Q447R	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	447	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CATGTTCATCTGTGTGCTGTT	0.517													C	94544162	T	C	94544162	3	2	27	1	0	0	0	0	1	0	0	0	34	1580	55	3	5645	3	ABCA4	1	94544162	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	67684	94544162	154706459	331	24282											
ABCD3	5825	broad.mit.edu	37	chr1	94955477	94955477	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtattgaaggagtacaagTcattcccttgatacctggtg	11	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:94955477T>G	uc001dqn.3	+	15	1370	c.1268T>G	c.(1267-1269)GTC>GGC	p.V423G	ABCD3_uc010oto.1_Missense_Mutation_p.V447G|ABCD3_uc010otp.1_Missense_Mutation_p.V350G|ABCD3_uc009wdr.2_Missense_Mutation_p.V313G|ABCD3_uc001dqo.3_Missense_Mutation_p.V111G	NM_002858	NP_002849	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D, member 3	423					peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(1)	1		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		GGAGTACAAGTCATTCCCTTG	0.323													G	94955477	T	G	94955477	3	3	27	1	0	0	0	0	1	0	0	0	62	1667	58	5	1357	5	ABCD3	1	94955477	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	411315	94955477	154295144	332	24283											
DPYD	1806	broad.mit.edu	37	chr1	97839124	97839124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggtccttacctgcccaCaggccaggcccattcctctt	7	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:97839124C>T	uc001drv.2	-	16	2188	c.2051G>A	c.(2050-2052)TGT>TAT	p.C684Y		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	684					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TACCTGCCCACAGGCCAGGCC	0.468													T	97839124	C	T	97839124	3	4	27	1	0	0	0	0	1	0	0	0	4745	478	17	4	1058	4	DPYD	1	97839124	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2883647	97839124	151411497	333	24284											
LPPR4	9890	broad.mit.edu	37	chr1	99771407	99771407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacagaaggcatcctcaaccGaaaccacagagatgctagct	8	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:99771407G>A	uc001dse.2	+	7	1239	c.1133G>A	c.(1132-1134)CGA>CAA	p.R378Q	LPPR4_uc010oue.1_Missense_Mutation_p.R320Q	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	378							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ATCCTCAACCGAAACCACAGA	0.458													A	99771407	G	A	99771407	3	1	27	1	0	0	0	0	1	0	0	0	8927	1058	37	1	1159	1	LPPR4	1	99771407	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1932283	99771407	149479214	334	24285											
HIAT1	64645	broad.mit.edu	37	chr1	100525469	100525469	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttagtgccccgcttattggTgctctttctgatgtttgggg	12	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:100525469T>C	uc001dst.2	+	4	279	c.279T>C	c.(277-279)GGT>GGC	p.G93G		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	93	Helical; Name=2; (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity				0		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CGCTTATTGGTGCTCTTTCTG	0.388													C	100525469	T	C	100525469	2	2	27	1	0	0	0	0	0	0	0	1	7097	1683	59	3		3	HIAT1	1	100525469	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	754062	100525469	148725152	335	24286											
HIAT1	64645	broad.mit.edu	37	chr1	100547720	100547720	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctcataatacacaagcGccaggagaggccaaagaacc	8	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:100547720G>A	uc001dst.2	+	12	1428	c.1428G>A	c.(1426-1428)GCG>GCA	p.A476A		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	476	Extracellular (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity				0		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ATACACAAGCGCCAGGAGAGG	0.448													A	100547720	G	A	100547720	2	1	27	1	0	0	0	0	0	0	0	1	7097	1074	38	1		1	HIAT1	1	100547720	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	22251	100547720	148702901	336	24287											
SASS6	163786	broad.mit.edu	37	chr1	100584676	100584676	+	Frame_Shift_Del	DEL	T	T	-													cgtaacttatctaattcttgTtttttttctgctaatgtcta							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:100584675_100584675GT>G	uc001dsu.3	-	6	709	c.568_568AC>C	c.(568-570)caafs	p.Q190fs	SASS6_uc009wdz.3_Frame_Shift_Del_p.Q23fs	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	Homo sapiens spindle assembly 6 homolog (C. elegans) (SASS6), mRNA.	190					centriole replication	centriole				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TCTAATTCTTGTTTTTTTTCT	0.313													-	100584676	T	-	100584676	7	5	27	1	0	1	0	1	0	0	0	0	13850	1722	60	0	1450	0	SASS6	1	100584676	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	36956	100584676	148665945	337	24288											
SASS6	163786	broad.mit.edu	37	chr1	100588820	100588820	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaaaaatggatccgtgTcatcagtcagacgaataact	7	7	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:100588820T>C	uc001dsu.2	-	3	293	c.152A>G	c.(151-153)GAC>GGC	p.D51G	SASS6_uc009wdz.2_Intron	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	spindle assembly abnormal protein 6	51	PISA.				centriole replication	centriole				upper_aerodigestive_tract(1)|ovary(1)	2		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TGGATCCGTGTCATCAGTCAG	0.274													C	100588820	T	C	100588820	3	2	27	1	0	0	0	0	1	0	0	0	13850	1667	58	3	1881	3	SASS6	1	100588820	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4144	100588820	148661801	338	24289											
CCDC76	54482	broad.mit.edu	37	chr1	100613769	100613769	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggatgcggaaaacatcTttggaaacctcaaatagtac	10	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:100613769T>C	uc001dsv.2	+	10	1156	c.1137T>C	c.(1135-1137)TCT>TCC	p.S379S	CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Intron	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	coiled-coil domain containing 76	379					tRNA processing		metal ion binding|methyltransferase activity			ovary(1)	1		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		GGAAAACATCTTTGGAAACCT	0.438													C	100613769	T	C	100613769	2	2	27	1	0	0	0	0	0	0	0	1	2850	1596	56	3		3	CCDC76	1	100613769	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	24949	100613769	148636852	339	24290											
RTCD1	8634	broad.mit.edu	37	chr1	100733760	100733760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatttgtgtgatgggcaaCtggagggggcagaaattggc	18	4	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:100733760C>T	uc001dtc.2	+	3	417	c.199C>T	c.(199-201)CTG>TTG	p.L67L	RTCD1_uc010ouh.1_Silent_p.L67L|RTCD1_uc001dtd.2_Silent_p.L80L	NM_003729	NP_003720	O00442	RTC1_HUMAN	RNA terminal phosphate cyclase domain 1 isoform	67					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)		TGATGGGCAACTGGAGGGGGC	0.448													T	100733760	C	T	100733760	2	4	27	1	0	0	0	0	0	0	0	1	13718	564	20	4		4	RTCD1	1	100733760	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	119991	100733760	148516861	340	24291											
RTCD1	8634	broad.mit.edu	37	chr1	100740491	100740491	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgactaagatatatggaagAgctttcgttgctggtgtttt	12	4	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:100740491A>G	uc001dtc.2	+	6	803	c.585A>G	c.(583-585)AGA>AGG	p.R195R	RTCD1_uc001dtd.2_Silent_p.R208R	NM_003729	NP_003720	O00442	RTC1_HUMAN	RNA terminal phosphate cyclase domain 1 isoform	195					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)		TATATGGAAGAGCTTTCGTTG	0.333													G	100740491	A	G	100740491	2	3	27	1	0	0	0	0	0	0	0	1	13718	301	11	3		3	RTCD1	1	100740491	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	6731	100740491	148510130	341	24292											
CDC14A	8556	broad.mit.edu	37	chr1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-													gcactcctgtctggctcaaaCcccccctatcttccattcag					rs138415707		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:100889836_100889836AC>A	uc001dtf.2	+	4	856	c.368_368AC>A	c.(367-369)aacfs	p.N123fs	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Frame_Shift_Del_p.N65fs|CDC14A_uc001dte.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wed.1_5'UTR|CDC14A_uc001dtg.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wee.3_Frame_Shift_Del_p.N123fs	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	123	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTGGCTCAAACCCCCCCTAT	0.403													-	100889837	C	-	100889837	7	5	27	1	0	1	0	1	0	0	0	0	3056	506	18	0	387	0	CDC14A	1	100889837	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	149346	100889837	148360784	342	24293											
SLC30A7	148867	broad.mit.edu	37	chr1	101431466	101431466	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taagccaaacacataatattTttactcaggtatgtcttttt	4	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:101431466T>A	uc001dtn.2	+	10	1262	c.1075T>A	c.(1075-1077)TTT>ATT	p.F359I	SLC30A7_uc001dto.2_Missense_Mutation_p.F359I	NM_001144884	NP_001138356	Q8NEW0	ZNT7_HUMAN	zinc transporter like 2	359	Cytoplasmic (Potential).				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding				0		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		ACATAATATTTTTACTCAGGT	0.279													A	101431466	T	A	101431466	3	1	27	1	0	0	0	0	1	0	0	0	14560	1841	64	5	1113	5	SLC30A7	1	101431466	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	541629	101431466	147819155	343	24294											
DPH5	51611	broad.mit.edu	37	chr1	101458252	101458252	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagctgctgggctgctTggtttacactcatataccgt	10	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:101458252T>C	uc001dts.2	-	7	722	c.575A>G	c.(574-576)CAA>CGA	p.Q192R	DPH5_uc001dtr.2_Missense_Mutation_p.Q192R|DPH5_uc001dtq.2_Intron|DPH5_uc001dtt.2_Missense_Mutation_p.Q192R|DPH5_uc001dtu.2_RNA|DPH5_uc001dtv.2_RNA|DPH5_uc001dtw.2_RNA|DPH5_uc001dtx.2_Intron|DPH5_uc001dty.2_Missense_Mutation_p.Q71R|DPH5_uc001dtz.2_RNA	NM_015958	NP_057042	Q9H2P9	DPH5_HUMAN	diphthine synthase isoform a	192					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity				0		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		CTGGGCTGCTTGGTTTACACT	0.418													C	101458252	T	C	101458252	3	2	27	1	0	0	0	0	1	0	0	0	4723	1812	63	3	290	3	DPH5	1	101458252	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	26786	101458252	147792369	344	24295											
OLFM3	118427	broad.mit.edu	37	chr1	102290762	102290762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtactgttccagcacggGgatcaaaggcaggagctcgt	13	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:102290762G>A	uc001duf.2	-	4	543	c.472C>T	c.(472-474)CCC>TCC	p.P158S	OLFM3_uc001dug.2_Missense_Mutation_p.P138S|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.P63S|OLFM3_uc001due.2_RNA	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	158	Potential.					extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TCCAGCACGGGGATCAAAGGC	0.438													A	102290762	G	A	102290762	3	1	27	1	0	0	0	0	1	0	0	0	10854	1232	43	4	976	4	OLFM3	1	102290762	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	832510	102290762	146959859	345	24296											
AMY2B	280	broad.mit.edu	37	chr1	104118128	104118128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttacacgagtaatgtcaaGctaccgttggccaagacagt	9	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:104118128G>A	uc001duq.2	+	9	1683	c.1067G>A	c.(1066-1068)AGC>AAC	p.S356N	AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.S356N|AMY2B_uc001dus.1_RNA	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	356					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GTAATGTCAAGCTACCGTTGG	0.338													A	104118128	G	A	104118128	3	1	27	1	0	0	0	0	1	0	0	0	595	971	34	2	1093	2	AMY2B	1	104118128	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1827366	104118128	145132493	346	24297											
NTNG1	22854	broad.mit.edu	37	chr1	107867139	107867139	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgtccagaccaaatgaTcctggagaagtctctcgatt	11	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:107867139T>C	uc001dvh.3	+	3	1200	c.482T>C	c.(481-483)ATC>ACC	p.I161T	NTNG1_uc001dvf.3_Missense_Mutation_p.I161T|NTNG1_uc010out.1_Missense_Mutation_p.I161T|NTNG1_uc001dvc.3_Missense_Mutation_p.I161T|NTNG1_uc001dvd.1_Missense_Mutation_p.I161T	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	161	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GACCAAATGATCCTGGAGAAG	0.443													C	107867139	T	C	107867139	3	2	27	1	0	0	0	0	1	0	0	0	10704	1435	50	3	488	3	NTNG1	1	107867139	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3749011	107867139	141383482	347	24298											
NTNG1	22854	broad.mit.edu	37	chr1	107973538	107973538	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgatgagaatgtgtgcatAggtcagttccattacaattt	10	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:107973538A>G	uc001dvh.3	+	6	1972	c.1254A>G	c.(1252-1254)ATA>ATG	p.I418M	NTNG1_uc001dvf.3_Intron|NTNG1_uc010out.1_Intron|NTNG1_uc001dvc.3_Intron|NTNG1_uc001dvi.2_Intron|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_Intron|NTNG1_uc001dvg.2_Intron|NTNG1_uc009wem.2_Intron	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	418	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ATGTGTGCATAGGTCAGTTCC	0.488													G	107973538	A	G	107973538	3	3	27	1	0	0	0	0	1	0	0	0	10704	434	15	3	1406	3	NTNG1	1	107973538	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	106399	107973538	141277083	348	24299											
FAM102B	284611	broad.mit.edu	37	chr1	109154855	109154855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatcaggaaataccactcGccgctgtttactggaaggct	11	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:109154855G>A	uc010ouy.1	+	4	424	c.344G>A	c.(343-345)CGC>CAC	p.R115H		NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN	hypothetical protein LOC284611	115										large_intestine(1)	1		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		AATACCACTCGCCGCTGTTTA	0.368													A	109154855	G	A	109154855	3	1	27	1	0	0	0	0	1	0	0	0	5383	1087	38	1	358	1	FAM102B	1	109154855	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1181317	109154855	140095766	349	24300											
STXBP3	6814	broad.mit.edu	37	chr1	109321945	109321945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcttaataattgatcgtgGctttgatcctgtgtccactg	9	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:109321945G>A	uc001dvy.2	+	9	797	c.722G>A	c.(721-723)GGC>GAC	p.G241D	STXBP3_uc001dvz.2_RNA	NM_007269	NP_009200	O00186	STXB3_HUMAN	syntaxin binding protein 3	241	Mediates interaction with DOC2B (By similarity).				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			ovary(3)|central_nervous_system(1)	4		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		ATTGATCGTGGCTTTGATCCT	0.353													A	109321945	G	A	109321945	3	1	27	1	0	0	0	0	1	0	0	0	15353	1203	42	2	756	2	STXBP3	1	109321945	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	167090	109321945	139928676	350	24301											
AKNAD1	254268	broad.mit.edu	37	chr1	109369927	109369927	+	Splice_Site	DEL	A	A	-													ttctccacgttttgcttcctAaaaaaaggtgcataagatcc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:109369926_109369926TA>T	uc001dwa.3	-	11	2108	c.1839_splice	c.e11-1	p.W613_splice	AKNAD1_uc010ovb.2_Splice_Site_p.W320_splice|AKNAD1_uc001dwb.3_Splice_Site	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	613										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTTGCTTCCTAAAAAAAGGT	0.378													-	109369927	A	-	109369927	8	5	27	1	0	1	0	1	0	0	1	0	464	377	13	0		0	AKNAD1	1	109369927	Splice_Site	DEL	A	TCGA-BR-6452-01A-12D-1800-08	47982	109369927	139880694	351	24302											
CLCC1	23155	broad.mit.edu	37	chr1	109479876	109479876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcagtggggcccatttgGcccctataatggaaatcggc	12	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:109479876G>A	uc001dwe.1	-	10	1298	c.1206C>T	c.(1204-1206)GGC>GGT	p.G402G	AKNAD1_uc010ovb.1_Intron|CLCC1_uc001dwf.1_Silent_p.G402G|CLCC1_uc001dwg.1_Silent_p.G352G|CLCC1_uc009wes.1_Silent_p.G281G|CLCC1_uc009wet.1_Silent_p.G217G	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Mid-1-related chloride channel 1 isoform 1	402						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				liver(1)	1		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		GGCCCATTTGGCCCCTATAAT	0.502													A	109479876	G	A	109479876	2	1	27	1	0	0	0	0	0	0	0	1	3460	1190	42	2		2	CLCC1	1	109479876	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	109949	109479876	139770745	352	24303											
CLCC1	23155	broad.mit.edu	37	chr1	109482311	109482311	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatgaagcagcgctggaaTttccttcatgagtgctttaa	10	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:109482311T>C	uc001dwe.1	-	9	1080	c.988A>G	c.(988-990)ATT>GTT	p.I330V	AKNAD1_uc010ovb.1_Intron|CLCC1_uc001dwf.1_Missense_Mutation_p.I330V|CLCC1_uc001dwg.1_Missense_Mutation_p.I280V|CLCC1_uc009wes.1_Missense_Mutation_p.I209V|CLCC1_uc009wet.1_Missense_Mutation_p.I145V	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Mid-1-related chloride channel 1 isoform 1	330	Helical; (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				liver(1)	1		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		AGCGCTGGAATTTCCTTCATG	0.358													C	109482311	T	C	109482311	3	2	27	1	0	0	0	0	1	0	0	0	3460	1493	52	3	679	3	CLCC1	1	109482311	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2435	109482311	139768310	353	24304											
KIAA1324	57535	broad.mit.edu	37	chr1	109742558	109742558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcccgctctgctcagtgGctgactaccatgctatcgtc	9	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:109742558G>A	uc001dwq.2	+	20	2720	c.2584G>A	c.(2584-2586)GCT>ACT	p.A862T	KIAA1324_uc009wex.1_Missense_Mutation_p.A812T|KIAA1324_uc009wey.2_Missense_Mutation_p.A775T|KIAA1324_uc010ovg.1_Missense_Mutation_p.A760T|KIAA1324_uc001dwr.2_Missense_Mutation_p.A512T|KIAA1324_uc001dws.1_RNA|KIAA1324_uc009wez.1_Intron	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	hypothetical protein LOC57535 precursor	862	Extracellular (Potential).				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CTGCTCAGTGGCTGACTACCA	0.567													A	109742558	G	A	109742558	3	1	27	1	0	0	0	0	1	0	0	0	8223	1203	42	2	2658	2	KIAA1324	1	109742558	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	260247	109742558	139508063	354	24305											
CELSR2	1952	broad.mit.edu	37	chr1	109795564	109795564	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgatgaaggcaccaatgccCagattatgtaccagattgtg	10	10	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:109795564C>A	uc001dxa.3	+	1	2924	c.2863C>A	c.(2863-2865)CAG>AAG	p.Q955K		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	955	Extracellular (Potential).|Cadherin 8.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CACCAATGCCCAGATTATGTA	0.552													A	109795564	C	A	109795564	3	1	27	1	0	0	0	0	1	0	0	0	3222	595	21	5	2865	5	CELSR2	1	109795564	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	53006	109795564	139455057	355	24306											
CELSR2	1952	broad.mit.edu	37	chr1	109801132	109801132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgctcacccacagcatcaCgctgcgcctggaggacatgt	11	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:109801132C>T	uc001dxa.3	+	2	3450	c.3389C>T	c.(3388-3390)ACG>ATG	p.T1130M		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1130	Cadherin 9.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CACAGCATCACGCTGCGCCTG	0.652													T	109801132	C	T	109801132	3	4	27	1	0	0	0	0	1	0	0	0	3222	536	19	1	3395	1	CELSR2	1	109801132	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5568	109801132	139449489	356	24307											
GNAI3	2773	broad.mit.edu	37	chr1	110129475	110129475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaaaataaagaggagtcCgttaactatctgttatccag	9	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:110129475C>T	uc001dxz.2	+	7	1002	c.845C>T	c.(844-846)CCG>CTG	p.P282L		NM_006496	NP_006487	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein),	282					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			ovary(1)	1		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		AAGAGGAGTCCGTTAACTATC	0.338													T	110129475	C	T	110129475	3	4	27	1	0	0	0	0	1	0	0	0	6506	652	23	1	871	1	GNAI3	1	110129475	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	328343	110129475	139121146	357	24308											
GSTM4	2948	broad.mit.edu	37	chr1	110203856	110203856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctctgtacacaagggtgGctgtctggggcaacaagtaa	12	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:110203856G>A	uc001dyf.2	+	8	951	c.637G>A	c.(637-639)GCT>ACT	p.A213T	GSTM4_uc001dyg.2_Missense_Mutation_p.A109T|GSTM4_uc009wfj.2_Missense_Mutation_p.A152T|GSTM4_uc001dyh.2_Intron|GSTM2_uc001dyi.2_Intron	NM_000850	NP_000841	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4 isoform 1	213					xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	CACAAGGGTGGCTGTCTGGGG	0.577													A	110203856	G	A	110203856	3	1	27	1	0	0	0	0	1	0	0	0	6840	1203	42	2	667	2	GSTM4	1	110203856	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	74381	110203856	139046765	358	24309											
AHCYL1	10768	broad.mit.edu	37	chr1	110555579	110555579	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggtctgcttgtaacatcTactcaactcagaatgaagta	8	9	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:110555579T>C	uc001dyx.2	+	5	905	c.538T>C	c.(538-540)TAC>CAC	p.Y180H	AHCYL1_uc010ovw.1_Missense_Mutation_p.Y133H|AHCYL1_uc001dyy.2_Missense_Mutation_p.Y133H|AHCYL1_uc010ovx.1_Missense_Mutation_p.Y133H	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	180					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		TTGTAACATCTACTCAACTCA	0.483													C	110555579	T	C	110555579	3	2	27	1	0	0	0	0	1	0	0	0	410	1522	53	3	556	3	AHCYL1	1	110555579	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	351723	110555579	138695042	359	24310											
SLC6A17	388662	broad.mit.edu	37	chr1	110737212	110737212	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttcagtccgtgcagggCacaggcctggccttcatcgc	11	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:110737212C>T	uc009wfq.2	+	9	1772	c.1311C>T	c.(1309-1311)GGC>GGT	p.G437G	SLC6A17_uc001dze.1_Silent_p.G35G	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	437	Extracellular (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CCGTGCAGGGCACAGGCCTGG	0.607													T	110737212	C	T	110737212	2	4	27	1	0	0	0	0	0	0	0	1	14680	697	25	2		2	SLC6A17	1	110737212	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	181633	110737212	138513409	360	24311											
KCNA10	3744	broad.mit.edu	37	chr1	111059927	111059927	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attggtcttattaagagagtCtgtgctgcccattcttgagc	10	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:111059927C>A	uc001dzt.1	-	1	1871	c.1483G>T	c.(1483-1485)GAC>TAC	p.D495Y		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	495						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TTAAGAGAGTCTGTGCTGCCC	0.423													A	111059927	C	A	111059927	3	1	27	1	0	0	0	0	1	0	0	0	8002	913	32	5	56	5	KCNA10	1	111059927	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	322715	111059927	138190694	361	24312											
DRAM2	128338	broad.mit.edu	37	chr1	111668915	111668915	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggagctactgtaccagtgtCactgaaagaaaaaaaggaag	11	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:111668915C>T	uc001ead.3	-	4	390	c.133G>A	c.(133-135)GAC>AAC	p.D45N	DRAM2_uc001eae.3_Missense_Mutation_p.D45N|DRAM2_uc009wfy.2_RNA|DRAM2_uc001eaf.3_5'UTR	NM_178454	NP_848549	Q6UX65	DRAM2_HUMAN	transmembrane protein 77	45					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane					0						GTACCAGTGTCACTGAAAGAA	0.323													T	111668915	C	T	111668915	3	4	27	1	0	0	0	0	1	0	0	0	4754	840	29	4	691	4	DRAM2	1	111668915	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	608988	111668915	137581706	362	24313											
C1orf162	128346	broad.mit.edu	37	chr1	112020302	112020302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggcttcccatttccccaGgcccattgctgagatgggtc	11	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:112020302G>A	uc001ebe.2	+	5	292	c.232G>A	c.(232-234)GGC>AGC	p.G78S		NM_174896	NP_777556	Q8NEQ5	CA162_HUMAN	hypothetical protein LOC128346	78						integral to membrane				ovary(1)	1		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		CATTTCCCCAGGCCCATTGCT	0.592													A	112020302	G	A	112020302	3	1	27	1	0	0	0	0	1	0	0	0	2010	1000	35	4	246	4	C1orf162	1	112020302	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	351387	112020302	137230319	363	24314											
RAP1A	5906	broad.mit.edu	37	chr1	112247110	112247110	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaagatcaatgttaatgaggTaacctacaactgctgggcag	10	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:112247110T>A	uc001ebi.2	+	6	572	c.468_splice	c.e6+2	p.E156_splice	RAP1A_uc001ebk.2_Splice_Site_p.E156_splice|RAP1A_uc001ebl.2_Splice_Site_p.E156_splice|RAP1A_uc001ebm.2_Splice_Site	NM_002884	NP_002875	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family precursor						activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity				0		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		GTTAATGAGGTAACCTACAAC	0.373													A	112247110	T	A	112247110	5	1	27	1	0	0	0	0	0	0	1	0	13035	1652	57	5	488	5	RAP1A	1	112247110	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	226808	112247110	137003511	364	24315											
C1orf183	55924	broad.mit.edu	37	chr1	112269716	112269716	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaggggaaatgtccagaGcccttggaaaggctccgctt	15	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:112269716G>A	uc001ebo.1	-	2	926	c.768C>T	c.(766-768)GGC>GGT	p.G256G	C1orf183_uc001ebp.1_Silent_p.G241G	NM_019099	NP_061972	Q9NTI7	CA183_HUMAN	hypothetical protein LOC55924 isoform 1	256										ovary(2)	2		all_cancers(81;7.29e-06)|all_epithelial(167;4.98e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.16e-05)		Lung(183;0.0155)|Colorectal(144;0.0289)|all cancers(265;0.0592)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0852)|COAD - Colon adenocarcinoma(174;0.113)		AATGTCCAGAGCCCTTGGAAA	0.637													A	112269716	G	A	112269716	2	1	27	1	0	0	0	0	0	0	0	1	2019	958	34	2		2	C1orf183	1	112269716	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	22606	112269716	136980905	365	24316											
KCND3	3752	broad.mit.edu	37	chr1	112524540	112524540	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgaccagaccgatgtagTagggcatgatggccaccacg	12	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:112524540T>C	uc001ebu.1	-	2	1289	c.809A>G	c.(808-810)TAC>TGC	p.Y270C	KCND3_uc001ebv.1_Missense_Mutation_p.Y270C	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	270	Helical; Name=Segment S3; (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		ACCGATGTAGTAGGGCATGAT	0.607													C	112524540	T	C	112524540	3	2	27	1	0	0	0	0	1	0	0	0	8020	1638	57	3	1186	3	KCND3	1	112524540	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	254824	112524540	136726081	366	24317											
CTTNBP2NL	55917	broad.mit.edu	37	chr1	112991688	112991688	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgatggcgaaaagcagccagTctgcacaaatccactctcta	8	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:112991688T>A	uc001ebx.2	+	4	452	c.224T>A	c.(223-225)GTC>GAC	p.V75D		NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	75						actin cytoskeleton	protein binding			central_nervous_system(2)|ovary(1)	3		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGCAGCCAGTCTGCACAAAT	0.458													A	112991688	T	A	112991688	3	1	27	1	0	0	0	0	1	0	0	0	4046	1667	58	5	230	5	CTTNBP2NL	1	112991688	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	467148	112991688	136258933	367	24318											
CTTNBP2NL	55917	broad.mit.edu	37	chr1	112998596	112998596	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaagtttgaaaaagaacAgaagaagctctctagtcagc	9	6	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:112998596A>G	uc001ebx.2	+	6	710	c.482A>G	c.(481-483)CAG>CGG	p.Q161R	CTTNBP2NL_uc001ebz.2_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	161	Potential.					actin cytoskeleton	protein binding			central_nervous_system(2)|ovary(1)	3		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAAAGAACAGAAGAAGCTC	0.433													G	112998596	A	G	112998596	3	3	27	1	0	0	0	0	1	0	0	0	4046	188	7	3	496	3	CTTNBP2NL	1	112998596	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	6908	112998596	136252025	368	24319											
CTTNBP2NL	55917	broad.mit.edu	37	chr1	112998647	112998647	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcccgccacaagcagcTctcatccatgctagtgcttg	9	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:112998647T>A	uc001ebx.2	+	6	761	c.533T>A	c.(532-534)CTC>CAC	p.L178H	CTTNBP2NL_uc001ebz.2_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	178	Potential.					actin cytoskeleton	protein binding			central_nervous_system(2)|ovary(1)	3		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACAAGCAGCTCTCATCCATG	0.483													A	112998647	T	A	112998647	3	1	27	1	0	0	0	0	1	0	0	0	4046	1551	54	5	547	5	CTTNBP2NL	1	112998647	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	51	112998647	136251974	369	24320											
ST7L	54879	broad.mit.edu	37	chr1	113084682	113084682	+	Frame_Shift_Del	DEL	T	T	-													ggatgaacaaaggaagctccTtttttgggtaaacagaaaca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:113084681_113084681CT>C	uc001ecd.3	-	13	1826	c.1521_1521AG>G	c.(1519-1521)aagfs	p.K507fs	ST7L_uc009wgh.3_Non-coding_Transcript|ST7L_uc001ecc.3_Frame_Shift_Del_p.K324fs|ST7L_uc010owg.2_Frame_Shift_Del_p.K442fs|ST7L_uc010owh.2_Frame_Shift_Del_p.K301fs|ST7L_uc001ecf.3_Frame_Shift_Del_p.K490fs|ST7L_uc001ece.3_Frame_Shift_Del_p.K476fs|ST7L_uc001ecg.3_Non-coding_Transcript|ST7L_uc010owi.2_Frame_Shift_Del_p.K442fs|ST7L_uc001ech.3_Frame_Shift_Del_p.K490fs|ST7L_uc001eci.3_Frame_Shift_Del_p.K507fs|ST7L_uc009wgi.1_Non-coding_Transcript	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	Homo sapiens suppression of tumorigenicity 7 like (ST7L), transcript variant 1, mRNA.	507					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGGAAGCTCCTTTTTTGGGT	0.353													-	113084682	T	-	113084682	7	5	27	1	0	1	0	1	0	0	0	0	15229	1609	56	0	254	0	ST7L	1	113084682	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	86035	113084682	136165939	370	24321											
CAPZA1	829	broad.mit.edu	37	chr1	113197105	113197105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcttaattacagagcacGgtgacctgggtaatagcaga	12	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:113197105G>A	uc001ecj.1	+	5	630	c.238G>A	c.(238-240)GGT>AGT	p.G80S		NM_006135	NP_006126	P52907	CAZA1_HUMAN	F-actin capping protein alpha-1 subunit	80					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding				0	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACAGAGCACGGTGACCTGGG	0.348													A	113197105	G	A	113197105	3	1	27	1	0	0	0	0	1	0	0	0	2640	1116	39	1	256	1	CAPZA1	1	113197105	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	112423	113197105	136053516	371	24322											
MOV10	4343	broad.mit.edu	37	chr1	113238807	113238807	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaagaagggggagtatgTatttcccgccaagaagaagc	13	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:113238807T>C	uc001eck.2	+	12	2087	c.1817T>C	c.(1816-1818)GTA>GCA	p.V606A	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.V606A|MOV10_uc001ecm.2_Missense_Mutation_p.V546A|MOV10_uc009wgj.1_Missense_Mutation_p.V546A	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	606					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GGGGAGTATGTATTTCCCGCC	0.547													C	113238807	T	C	113238807	3	2	27	1	0	0	0	0	1	0	0	0	9718	1638	57	3	1859	3	MOV10	1	113238807	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	41702	113238807	136011814	372	24323											
LRIG2	9860	broad.mit.edu	37	chr1	113637349	113637350	+	Frame_Shift_Ins	INS	-	-	T													caaacttaaggatggagcatINStttttggcttgaataacatg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:113637348_113637349A>AT	uc001edf.1	+	5	972_973	c.774_775A>AT	c.(772-777)gcatttfs	p.A258fs	LRIG2_uc009wgn.1_Frame_Shift_Ins_p.A155fs	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	258						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AGGATGGAGCATTTTTTGGCTT	0.391													T	113637350	-	T	113637349	7	5	27	1	0	1	1	0	0	0	0	0	8945	1493	52	0	797	0	LRIG2	1	113637349	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	398542	113637349	135613272	373	24324											
LRIG2	9860	broad.mit.edu	37	chr1	113653183	113653183	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagccaaactgactgtaaaTggtaaggaattatgctcctt	8	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:113653183T>C	uc001edf.1	+	13	1995	c.1797T>C	c.(1795-1797)AAT>AAC	p.N599N	LRIG2_uc009wgn.1_Silent_p.N496N	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	599	Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGACTGTAAATGGTAAGGAAT	0.294													C	113653183	T	C	113653183	2	2	27	1	0	0	0	0	0	0	0	1	8945	1478	51	3		3	LRIG2	1	113653183	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	15834	113653183	135597438	374	24325											
MAGI3	260425	broad.mit.edu	37	chr1	114184904	114184904	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctcccagcctgaactagtgActatccctttgattaagggc	9	12	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:114184904A>T	uc001edk.2	+	10	1913	c.1732A>T	c.(1732-1734)ACT>TCT	p.T578S	MAGI3_uc001edh.3_Missense_Mutation_p.T603S|MAGI3_uc001edi.3_Missense_Mutation_p.T578S|MAGI3_uc010owm.1_Missense_Mutation_p.T603S|MAGI3_uc001edj.2_Missense_Mutation_p.T299S	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	603	PDZ 3.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAACTAGTGACTATCCCTTT	0.493													T	114184904	A	T	114184904	3	4	27	1	0	0	0	0	1	0	0	0	9192	275	10	5	1770	5	MAGI3	1	114184904	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	531721	114184904	135065717	375	24326											
PHTF1	10745	broad.mit.edu	37	chr1	114243442	114243442	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagtaatattgaaacatTgctgtatttcttattggttt	7	3	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:114243442T>C	uc009wgp.1	-	15	2472	c.2020A>G	c.(2020-2022)AAT>GAT	p.N674D	PHTF1_uc001edm.2_Missense_Mutation_p.N431D	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	674						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTGAAACATTGCTGTATTTC	0.303													C	114243442	T	C	114243442	3	2	27	1	0	0	0	0	1	0	0	0	11862	1812	63	3	284	3	PHTF1	1	114243442	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	58538	114243442	135007179	376	24327											
PHTF1	10745	broad.mit.edu	37	chr1	114247337	114247337	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttaatattctccaccttcTtaagtctgaaatgaggtatt	5	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:114247337T>C	uc009wgp.1	-	13	2206	c.1754A>G	c.(1753-1755)AAG>AGG	p.K585R	PHTF1_uc001edn.2_Missense_Mutation_p.K585R|PHTF1_uc001edm.2_Missense_Mutation_p.K342R	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	585						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCCACCTTCTTAAGTCTGAA	0.318													C	114247337	T	C	114247337	3	2	27	1	0	0	0	0	1	0	0	0	11862	1609	56	3	558	3	PHTF1	1	114247337	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3895	114247337	135003284	377	24328											
RSBN1	54665	broad.mit.edu	37	chr1	114310883	114310883	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttcaaaactccaacagcaGccgtactctgccagtcaaac	5	15	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:114310883G>T	uc001edq.2	-	5	1823	c.1787C>A	c.(1786-1788)GCT>GAT	p.A596D	RSBN1_uc001edr.2_RNA	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	596						nucleus				ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCAACAGCAGCCGTACTCTG	0.448													T	114310883	G	T	114310883	3	4	27	1	0	0	0	0	1	0	0	0	13696	971	34	5	633	5	RSBN1	1	114310883	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	63546	114310883	134939738	378	24329											
RSBN1	54665	broad.mit.edu	37	chr1	114320291	114320291	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataatcttaattaacactcActttcagaaatggtgattct	4	7	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:114320291A>G	uc001edq.2	-	3	1551	c.1515_splice	c.e3+1	p.K505_splice	RSBN1_uc001edr.2_Splice_Site	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1							nucleus				ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTAACACTCACTTTCAGAAA	0.323													G	114320291	A	G	114320291	5	3	27	1	0	0	0	0	0	0	1	0	13696	173	6	3	911	3	RSBN1	1	114320291	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	9408	114320291	134930330	379	24330											
AP4B1	10717	broad.mit.edu	37	chr1	114447319	114447319	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcagctccttcaccacgtcCtcggagccaaggtacggcat	9	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:114447319C>A	uc001eeb.2	-	1	164	c.21G>T	c.(19-21)GAG>GAT	p.E7D	AP4B1_uc001eec.2_Missense_Mutation_p.E7D|AP4B1_uc001eed.2_Missense_Mutation_p.E7D|AP4B1_uc010owp.1_Translation_Start_Site|AP4B1_uc010owq.1_Missense_Mutation_p.E7D|DCLRE1B_uc001eeg.2_5'Flank|DCLRE1B_uc001eeh.2_5'Flank|DCLRE1B_uc001eei.2_5'Flank	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1	7					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			ovary(3)|central_nervous_system(1)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCACCACGTCCTCGGAGCCAA	0.562													A	114447319	C	A	114447319	3	1	27	1	0	0	0	0	1	0	0	0	751	680	24	5	2238	5	AP4B1	1	114447319	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	127028	114447319	134803302	380	24331											
DCLRE1B	64858	broad.mit.edu	37	chr1	114450717	114450717	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttatacctagacaacaccAattgcaatccagccctggtt	5	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:114450717A>G	uc001eeg.2	+	3	613	c.442A>G	c.(442-444)AAT>GAT	p.N148D	AP4B1_uc001eed.2_5'Flank|AP4B1_uc010owp.1_5'Flank|DCLRE1B_uc001eeh.2_Missense_Mutation_p.N22D|DCLRE1B_uc001eei.2_Missense_Mutation_p.N22D	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B (PSO2 homolog, S.	148					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding				0	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGACAACACCAATTGCAATCC	0.463								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					G	114450717	A	G	114450717	3	3	27	1	0	0	0	0	1	0	0	0	4295	130	5	3	452	3	DCLRE1B	1	114450717	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3398	114450717	134799904	381	24332											
SYT6	148281	broad.mit.edu	37	chr1	114680358	114680358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtctgcagcttgcatttgCggtcaggcaggaggtagatc	16	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:114680358C>T	uc001eev.2	-	3	825	c.575G>A	c.(574-576)CGC>CAC	p.R192H		NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN	synaptotagmin VI	277	Cytoplasmic (Potential).|C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTGCATTTGCGGTCAGGCAG	0.557													T	114680358	C	T	114680358	3	4	27	1	0	0	0	0	1	0	0	0	15475	768	27	1	722	1	SYT6	1	114680358	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	229641	114680358	134570263	382	24333											
SYT6	148281	broad.mit.edu	37	chr1	114682276	114682276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtagtttgccgctgcagcCgggtgtgacgcatgatgtgc	15	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:114682276C>T	uc001eev.2	-	2	468	c.218G>A	c.(217-219)CGG>CAG	p.R73Q		NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN	synaptotagmin VI	158	Cytoplasmic (Potential).				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCGCTGCAGCCGGGTGTGACG	0.597													T	114682276	C	T	114682276	3	4	27	1	0	0	0	0	1	0	0	0	15475	652	23	1	1083	1	SYT6	1	114682276	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1918	114682276	134568345	383	24334											
TRIM33	51592	broad.mit.edu	37	chr1	114940429	114940429	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtagatctctgtgagtttAtcttcaaagtacaatgcaac	8	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:114940429A>G	uc001eew.2	-	20	3309	c.3225T>C	c.(3223-3225)GAT>GAC	p.D1075D	TRIM33_uc010owr.1_Silent_p.D689D|TRIM33_uc010ows.1_Silent_p.D707D|TRIM33_uc001eex.2_Silent_p.D1058D	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	1075					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTGAGTTTATCTTCAAAGT	0.443			T	RET	papillary thyroid								G	114940429	A	G	114940429	2	3	27	1	0	0	0	0	0	0	0	1	16504	446	16	3		3	TRIM33	1	114940429	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	258153	114940429	134310192	384	24335											
TRIM33	51592	broad.mit.edu	37	chr1	114973432	114973432	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccatacctctagctgttgTaagagagattttcctttctt	6	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:114973432T>C	uc001eew.2	-	6	1227	c.1143A>G	c.(1141-1143)TTA>TTG	p.L381L	TRIM33_uc010owr.1_5'Flank|TRIM33_uc010ows.1_5'UTR|TRIM33_uc001eex.2_Silent_p.L381L	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	381	Necessary for oligomerization.|Potential.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTAGCTGTTGTAAGAGAGATT	0.303			T	RET	papillary thyroid								C	114973432	T	C	114973432	2	2	27	1	0	0	0	0	0	0	0	1	16504	1635	57	3		3	TRIM33	1	114973432	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	33003	114973432	134277189	385	24336											
BCAS2	10286	broad.mit.edu	37	chr1	115124132	115124132	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcactcaccgcttcccgcacAccaggggcttcataaccttg	8	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:115124132A>G	uc001efa.2	-	1	134	c.81T>C	c.(79-81)GGT>GGC	p.G27G	DENND2C_uc001eez.2_Intron	NM_005872	NP_005863	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	27					mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding			large_intestine(1)	1	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCCCGCACACCAGGGGCTT	0.542													G	115124132	A	G	115124132	2	3	27	1	0	0	0	0	0	0	0	1	1351	146	6	3		3	BCAS2	1	115124132	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	150700	115124132	134126489	386	24337											
AMPD1	270	broad.mit.edu	37	chr1	115221074	115221074	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accactctgtcagcatcaatTtggtaagatttcttaataaa	5	8	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:115221074T>C	uc001efe.1	-	8	1056	c.972A>G	c.(970-972)CAA>CAG	p.Q324Q	AMPD1_uc001eff.1_Silent_p.Q320Q	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	324					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CAGCATCAATTTGGTAAGATT	0.383													C	115221074	T	C	115221074	2	2	27	1	0	0	0	0	0	0	0	1	585	1838	64	3		3	AMPD1	1	115221074	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	96942	115221074	134029547	387	24338											
CSDE1	7812	broad.mit.edu	37	chr1	115261368	115261368	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagccttggggccctcacTgtaattaagtcaaaagatga	9	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:115261368T>C	uc001efk.2	-	19	2683	c.2217_splice	c.e19-1	p.C739_splice	NRAS_uc009wgu.2_5'Flank|CSDE1_uc001efi.2_Splice_Site_p.C785_splice|CSDE1_uc001efj.2_Intron|CSDE1_uc001efl.2_Splice_Site_p.C708_splice|CSDE1_uc001efm.2_Splice_Site_p.C754_splice|CSDE1_uc009wgv.2_Splice_Site_p.C739_splice|CSDE1_uc001efn.2_Splice_Site_p.C708_splice	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN	upstream of NRAS isoform 1						male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGCCCTCACTGTAATTAAGT	0.493													C	115261368	T	C	115261368	5	2	27	1	0	0	0	0	0	0	1	0	3929	1594	55	3	189	3	CSDE1	1	115261368	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	40294	115261368	133989253	388	24339											
SYCP1	6847	broad.mit.edu	37	chr1	115418740	115418740	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaagctgagaattccagActggaaatgcattttaagtg	11	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:115418740A>T	uc001efr.2	+	10	917	c.708A>T	c.(706-708)AGA>AGT	p.R236S	SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.R236S|SYCP1_uc009wgw.2_Missense_Mutation_p.R236S	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	236	Potential.				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding			skin(1)	1	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)		AGAATTCCAGACTGGAAATGC	0.274													T	115418740	A	T	115418740	3	4	27	1	0	0	0	0	1	0	0	0	15428	272	10	5	742	5	SYCP1	1	115418740	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	157372	115418740	133831881	389	24340											
TSHB	7252	broad.mit.edu	37	chr1	115576796	115576796	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catacatgaagccatcaagaCaaactactgtaccaaacctc	4	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:115576796C>A	uc001efs.1	+	3	433	c.365C>A	c.(364-366)ACA>AAA	p.T122K		NM_000549	NP_000540	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta precursor	122					anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity				0	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|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)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		GCCATCAAGACAAACTACTGT	0.378													A	115576796	C	A	115576796	3	1	27	1	0	0	0	0	1	0	0	0	16618	478	17	5	371	5	TSHB	1	115576796	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	158056	115576796	133673825	390	24341											
NHLH2	4808	broad.mit.edu	37	chr1	116380781	116380781	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tacttggccgtggcgcgccgGcggcggcgcttctcctcgcg	16	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:116380781G>C	uc009wgz.2	-	2	718	c.213C>G	c.(211-213)CGC>CGG	p.R71R	NHLH2_uc001efy.2_Silent_p.R71R	NM_001111061	NP_001104531	Q02577	HEN2_HUMAN	nescient helix loop helix 2	71	Poly-Arg.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGGCGCGCCGGCGGCGGCGCT	0.736													C	116380781	G	C	116380781	2	2	27	1	0	0	0	0	0	0	0	1	10404	1190	42	5		5	NHLH2	1	116380781	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	803985	116380781	132869840	391	24342											
ATP1A1	476	broad.mit.edu	37	chr1	116937812	116937812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgatgtgaatttccctatcGataatctgtgctttgttggg	10	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:116937812G>A	uc001ege.2	+	13	2080	c.1741G>A	c.(1741-1743)GAT>AAT	p.D581N	ATP1A1_uc010owv.1_Missense_Mutation_p.D550N|ATP1A1_uc010oww.1_Missense_Mutation_p.D581N|ATP1A1_uc010owx.1_Missense_Mutation_p.D550N|C1orf203_uc009whb.2_Intron	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	581	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TTTCCCTATCGATAATCTGTG	0.517													A	116937812	G	A	116937812	3	1	27	1	0	0	0	0	1	0	0	0	1128	1058	37	1	1807	1	ATP1A1	1	116937812	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	557031	116937812	132312809	392	24343											
CD58	965	broad.mit.edu	37	chr1	117078662	117078663	+	Frame_Shift_Ins	INS	-	-	T													ttgctaagagtacactgtatINStttttgtggaagatcatttt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:117078661_117078662A>AT	uc001egm.3	-	2	674_675	c.553_554T>AT	c.(553-555)atafs	p.I185fs	CD58_uc001egn.3_Non-coding_Transcript|CD58_uc010owy.2_Frame_Shift_Ins_p.I185fs|CD58_uc001ego.1_Intron|CD58_uc001egp.4_Frame_Shift_Ins_p.I185fs	NM_001779	NP_001770	P19256	LFA3_HUMAN	Homo sapiens CD58 molecule (CD58), transcript variant 1, mRNA.	185	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		AGTACACTGTATTTTTTGTGGA	0.342													T	117078663	-	T	117078662	7	5	27	1	0	1	1	0	0	0	0	0	3025	1493	52	0	219	0	CD58	1	117078662	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	140850	117078662	132171959	393	24344											
CD101	9398	broad.mit.edu	37	chr1	117552590	117552590	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccagggaccttctgagcaGcatttccagtggtctgttta	10	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:117552590G>T	uc010oxb.1	+	2	220	c.162G>T	c.(160-162)CAG>CAT	p.Q54H	CD101_uc009whd.2_Missense_Mutation_p.Q54H|CD101_uc010oxc.1_Missense_Mutation_p.Q54H|CD101_uc010oxd.1_Missense_Mutation_p.Q54H	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	54	Extracellular (Potential).|Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						CTTCTGAGCAGCATTTCCAGT	0.502													T	117552590	G	T	117552590	3	4	27	1	0	0	0	0	1	0	0	0	2962	962	34	5	168	5	CD101	1	117552590	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	473928	117552590	131698031	394	24345											
CD101	9398	broad.mit.edu	37	chr1	117561006	117561006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccggttccaaaagaagaCgaaagtgtcgcagtctttat	9	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:117561006C>T	uc010oxb.1	+	6	1899	c.1841C>T	c.(1840-1842)ACG>ATG	p.T614M	CD101_uc009whd.2_Missense_Mutation_p.T614M|CD101_uc010oxc.1_Missense_Mutation_p.T614M|CD101_uc010oxd.1_Missense_Mutation_p.T552M	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	614	Extracellular (Potential).|Ig-like C2-type 5.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						CAAAAGAAGACGAAAGTGTCG	0.453													T	117561006	C	T	117561006	3	4	27	1	0	0	0	0	1	0	0	0	2962	536	19	1	1863	1	CD101	1	117561006	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	8416	117561006	131689615	395	24346											
CD101	9398	broad.mit.edu	37	chr1	117568456	117568456	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagagtggcagctccatggAcacccaagcaagtggattaa	12	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:117568456A>T	uc010oxb.1	+	8	2812	c.2754A>T	c.(2752-2754)GGA>GGT	p.G918G	CD101_uc009whd.2_Silent_p.G918G|CD101_uc010oxc.1_Silent_p.G918G|CD101_uc010oxd.1_Silent_p.G856G	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	918	Ig-like C2-type 7.|Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						AGCTCCATGGACACCCAAGCA	0.532													T	117568456	A	T	117568456	2	4	27	1	0	0	0	0	0	0	0	1	2962	262	10	5		5	CD101	1	117568456	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	7450	117568456	131682165	396	24347											
TTF2	8458	broad.mit.edu	37	chr1	117617696	117617696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaagggagatcagcttttcGatcaaaagaaagaacagaag	10	5	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:117617696G>A	uc001egy.2	+	5	510	c.490G>A	c.(490-492)GAT>AAT	p.D164N	TTF2_uc001egx.1_Missense_Mutation_p.D164N	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	164					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCAGCTTTTCGATCAAAAGAA	0.413													A	117617696	G	A	117617696	3	1	27	1	0	0	0	0	1	0	0	0	16716	1058	37	1	508	1	TTF2	1	117617696	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	49240	117617696	131632925	397	24348											
TTF2	8458	broad.mit.edu	37	chr1	117634487	117634487	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagacactcggaggcagcagActcaccgagatccagcaccg	11	14	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:117634487A>T	uc001egy.2	+	17	2740	c.2720A>T	c.(2719-2721)GAC>GTC	p.D907V	MIR942_hsa-mir-942|MI0005767_5'Flank	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	907					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GAGGCAGCAGACTCACCGAGA	0.512													T	117634487	A	T	117634487	3	4	27	1	0	0	0	0	1	0	0	0	16716	275	10	5	2786	5	TTF2	1	117634487	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	16791	117634487	131616134	398	24349											
TRIM45	80263	broad.mit.edu	37	chr1	117661186	117661186	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagagtccccatgcttgtggAtgacattgctggtgaagtca	12	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:117661186A>T	uc001egz.2	-	2	1280	c.692T>A	c.(691-693)ATC>AAC	p.I231N	TRIM45_uc009whe.2_Missense_Mutation_p.I231N|TRIM45_uc001eha.2_Missense_Mutation_p.I127N	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	tripartite motif-containing 45 isoform 1	231						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		ATGCTTGTGGATGACATTGCT	0.572													T	117661186	A	T	117661186	3	4	27	1	0	0	0	0	1	0	0	0	16517	333	12	5	1070	5	TRIM45	1	117661186	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	26699	117661186	131589435	399	24350											
MAN1A2	10905	broad.mit.edu	37	chr1	118009007	118009007	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatcgtccaaatggtcttTatccaaattatttgaacccc	6	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:118009007T>C	uc001ehd.1	+	8	1847	c.1126T>C	c.(1126-1128)TAT>CAT	p.Y376H	MAN1A2_uc009whg.1_Missense_Mutation_p.Y166H	NM_006699	NP_006690	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	376	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity				0	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		AAATGGTCTTTATCCAAATTA	0.333													C	118009007	T	C	118009007	3	2	27	1	0	0	0	0	1	0	0	0	9211	1754	61	3	1156	3	MAN1A2	1	118009007	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	347821	118009007	131241614	400	24351											
FAM46C	54855	broad.mit.edu	37	chr1	118165851	118165851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcccttctgaacttcctgCcagagggtgtgaacaagctc	10	12	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:118165851C>T	uc001ehe.2	+	2	560	c.361C>T	c.(361-363)CCA>TCA	p.P121S		NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	hypothetical protein LOC54855	121											0	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GAACTTCCTGCCAGAGGGTGT	0.502										Multiple Myeloma(3;1.13e-06)			T	118165851	C	T	118165851	3	4	27	1	0	0	0	0	1	0	0	0	5567	739	26	2	363	2	FAM46C	1	118165851	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	156844	118165851	131084770	401	24352											
GDAP2	54834	broad.mit.edu	37	chr1	118461256	118461256	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttccttcaaatcaggcccTgcaagcatgaagatactttc	6	12	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:118461256T>C	uc001ehf.2	-	3	578	c.279A>G	c.(277-279)GCA>GCG	p.A93A	GDAP2_uc001ehg.2_Silent_p.A93A	NM_017686	NP_060156	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated	93	Macro.									ovary(2)	2		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		AATCAGGCCCTGCAAGCATGA	0.378													C	118461256	T	C	118461256	2	2	27	1	0	0	0	0	0	0	0	1	6309	1567	55	3		3	GDAP2	1	118461256	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	295405	118461256	130789365	402	24353											
WDR3	10885	broad.mit.edu	37	chr1	118483468	118483468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattgaagacccggaagaaCcagaccccaagaaaatcaaa	8	10	1	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:118483468C>T	uc010oxe.1	+	7	760	c.694C>T	c.(694-696)CCA>TCA	p.P232S	WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_Missense_Mutation_p.P61S	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	232						nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CCCGGAAGAACCAGACCCCAA	0.358													T	118483468	C	T	118483468	3	4	27	1	0	0	0	0	1	0	0	0	17282	507	18	4	716	4	WDR3	1	118483468	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	22212	118483468	130767153	403	24354											
WDR3	10885	broad.mit.edu	37	chr1	118486176	118486176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtcatcgcagtgatgtgCggactttgtcattcagctca	13	9	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:118486176C>T	uc010oxe.1	+	11	1321	c.1255C>T	c.(1255-1257)CGG>TGG	p.R419W	WDR3_uc001ehi.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	419	WD 7.					nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CAGTGATGTGCGGACTTTGTC	0.433													T	118486176	C	T	118486176	3	4	27	1	0	0	0	0	1	0	0	0	17282	759	27	1	1293	1	WDR3	1	118486176	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2708	118486176	130764445	404	24355											
SPAG17	200162	broad.mit.edu	37	chr1	118527389	118527389	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccattaggtaattctgtgTtgtctcaatttccttcctgg	7	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:118527389T>C	uc001ehk.2	-	41	5754	c.5686A>G	c.(5686-5688)ACA>GCA	p.T1896A		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1896	Potential.					cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAATTCTGTGTTGTCTCAATT	0.323													C	118527389	T	C	118527389	3	2	27	1	0	0	0	0	1	0	0	0	14979	1725	60	3	1017	3	SPAG17	1	118527389	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	41213	118527389	130723232	405	24356											
SPAG17	200162	broad.mit.edu	37	chr1	118530822	118530822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaataaatcagttaggtgagCtgcaactttaaacatagatg	9	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:118530822C>T	uc001ehk.2	-	39	5595	c.5527G>A	c.(5527-5529)GCT>ACT	p.A1843T		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1843						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTTAGGTGAGCTGCAACTTTA	0.383													T	118530822	C	T	118530822	3	4	27	1	0	0	0	0	1	0	0	0	14979	797	28	2	1184	2	SPAG17	1	118530822	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3433	118530822	130719799	406	24357											
TBX15	6913	broad.mit.edu	37	chr1	119441700	119441700	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaggtgagtgtgcgcacAggaggtctccagaatgcata	14	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:119441700A>C	uc001ehl.1	-	7	972	c.657T>G	c.(655-657)CCT>CCG	p.P219P	TBX15_uc009whj.1_Silent_p.P10P	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	T-box 15	325						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GTGTGCGCACAGGAGGTCTCC	0.483													C	119441700	A	C	119441700	2	2	27	1	0	0	0	0	0	0	0	1	15649	175	7	5		5	TBX15	1	119441700	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	910878	119441700	129808921	407	24358											
WARS2	10352	broad.mit.edu	37	chr1	119584963	119584963	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccatcgtgcttctgcttggTagtctttgcctgtgagaggt	13	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:119584963T>C	uc001ehn.2	-	4	467	c.439A>G	c.(439-441)ACC>GCC	p.T147A	WARS2_uc010oxf.1_Missense_Mutation_p.T53A|WARS2_uc001ehm.2_Missense_Mutation_p.T147A|WARS2_uc010oxg.1_Missense_Mutation_p.T90A|WARS2_uc010oxh.1_Intron|WARS2_uc010oxi.1_Intron	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	147					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TTCTGCTTGGTAGTCTTTGCC	0.453													C	119584963	T	C	119584963	3	2	27	1	0	0	0	0	1	0	0	0	17247	1638	57	3	684	3	WARS2	1	119584963	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	143263	119584963	129665658	408	24359											
ADAM30	11085	broad.mit.edu	37	chr1	120437502	120437502	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcatacttgcaaggggtTccatcctgcttataaacgtc	7	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:120437502T>C	uc001eij.2	-	1	1612	c.1458A>G	c.(1456-1458)GGA>GGG	p.G486G		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	486	Cys-rich.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TGCAAGGGGTTCCATCCTGCT	0.488													C	120437502	T	C	120437502	2	2	27	1	0	0	0	0	0	0	0	1	248	1770	62	3		3	ADAM30	1	120437502	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	852539	120437502	128813119	409	24360											
PDE4DIP	9659	broad.mit.edu	37	chr1	144867919	144867919	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatctctgctttgtgctttAcctgtgggtttggagttaag	11	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:144867919A>G	uc001elw.3	-	33	5809	c.5518_splice	c.e33+1	p.G1840_splice	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Splice_Site_p.G1734_splice|PDE4DIP_uc001elv.3_Splice_Site_p.G847_splice|PDE4DIP_uc001ema.2_Intron	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform						cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTTGTGCTTTACCTGTGGGTT	0.502			T	PDGFRB	MPD								G	144867919	A	G	144867919	5	3	27	1	0	0	0	0	0	0	1	0	11643	405	14	3	1568	3	PDE4DIP	1	144867919	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	24430417	144867919	104382702	410	24361											
PDE4DIP	9659	broad.mit.edu	37	chr1	144882879	144882879	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaggctcagcatggtgTtcctgcaggaaacacactta	11	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:144882879T>G	uc001elw.3	-	24	3431	c.3140A>C	c.(3139-3141)AAC>ACC	p.N1047T	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.N1113T|PDE4DIP_uc001elv.3_Missense_Mutation_p.N54T	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1047					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAGCATGGTGTTCCTGCAGGA	0.493			T	PDGFRB	MPD								G	144882879	T	G	144882879	3	3	27	1	0	0	0	0	1	0	0	0	11643	1725	60	5	3984	5	PDE4DIP	1	144882879	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	14960	144882879	104367742	411	24362											
PDE4DIP	9659	broad.mit.edu	37	chr1	144917847	144917847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caacagctttatcatgtattCgctggcgaagtttctcaagc	8	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:144917847C>T	uc001elw.3	-	11	1730	c.1439G>A	c.(1438-1440)CGA>CAA	p.R480Q	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R546Q|PDE4DIP_uc001emc.1_Missense_Mutation_p.R480Q|PDE4DIP_uc001emd.1_Missense_Mutation_p.R480Q|PDE4DIP_uc001emb.1_Missense_Mutation_p.R643Q|PDE4DIP_uc001eme.1_Missense_Mutation_p.R9Q|PDE4DIP_uc001emf.1_Missense_Mutation_p.R267Q	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	480	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATCATGTATTCGCTGGCGAAG	0.378			T	PDGFRB	MPD								T	144917847	C	T	144917847	3	4	27	1	0	0	0	0	1	0	0	0	11643	884	31	1	5747	1	PDE4DIP	1	144917847	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	34968	144917847	104332774	412	24363											
PDE4DIP	9659	broad.mit.edu	37	chr1	144921944	144921944	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttggcgctctttctgtcgtAccaccctctggagcttctgt	10	13	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:144921944A>G	uc001elw.3	-	9	1376	c.1085T>C	c.(1084-1086)GTA>GCA	p.V362A	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.V428A|PDE4DIP_uc001emc.1_Missense_Mutation_p.V362A|PDE4DIP_uc001emd.1_Missense_Mutation_p.V362A|PDE4DIP_uc001emb.1_Missense_Mutation_p.V525A|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Missense_Mutation_p.V149A	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	362	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTTCTGTCGTACCACCCTCTG	0.488			T	PDGFRB	MPD								G	144921944	A	G	144921944	3	3	27	1	0	0	0	0	1	0	0	0	11643	391	14	3	6109	3	PDE4DIP	1	144921944	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4097	144921944	104328677	413	24364											
ITGA10	8515	broad.mit.edu	37	chr1	145535890	145535890	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgtactcctggtcgctgggAtcaccaattctgtgagtgac	11	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:145535890A>T	uc001eoa.2	+	16	2154	c.2078A>T	c.(2077-2079)GAT>GTT	p.D693V	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.D562V|ITGA10_uc009wiw.2_Missense_Mutation_p.D550V|ITGA10_uc010oyw.1_Missense_Mutation_p.D638V	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	693	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGTCGCTGGGATCACCAATTC	0.537													T	145535890	A	T	145535890	3	4	27	1	0	0	0	0	1	0	0	0	7873	333	12	5	2140	5	ITGA10	1	145535890	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	613946	145535890	103714731	414	24365											
ANKRD35	148741	broad.mit.edu	37	chr1	145562806	145562806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcccgggaggcagccagcCtacggcaacacgagaaaact	14	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:145562806C>T	uc001eob.1	+	10	2602	c.2494C>T	c.(2494-2496)CTA>TTA	p.L832L	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Silent_p.L675L	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	832										ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGCAGCCAGCCTACGGCAACA	0.602													T	145562806	C	T	145562806	2	4	27	1	0	0	0	0	0	0	0	1	664	680	24	4		4	ANKRD35	1	145562806	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	26916	145562806	103687815	415	24366											
RNF115	27246	broad.mit.edu	37	chr1	145646131	145646131	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ataggaatatatatgtcccaGatgtgaatcaggctttattg	9	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:145646131G>A	uc001eoj.2	+	2	323	c.119G>A	c.(118-120)AGA>AAA	p.R40K	NBPF10_uc001emp.3_Intron|RNF115_uc001eok.2_5'UTR|RNF115_uc009wiy.2_5'UTR	NM_014455	NP_055270	Q9Y4L5	RN115_HUMAN	Rabring 7	40					protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1						ATATGTCCCAGATGTGAATCA	0.308													A	145646131	G	A	145646131	3	1	27	1	0	0	0	0	1	0	0	0	13430	942	33	4	125	4	RNF115	1	145646131	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	83325	145646131	103604490	416	24367											
PRKAB2	5565	broad.mit.edu	37	chr1	146633349	146633349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgggctcagggagtaagGctgggtcacactaagagaaa	16	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:146633349G>A	uc001epe.2	-	7	828	c.683C>T	c.(682-684)GCC>GTC	p.A228V	PRKAB2_uc010ozm.1_Missense_Mutation_p.A146V|PRKAB2_uc010ozn.1_Missense_Mutation_p.P106S|PRKAB2_uc009wjf.1_Missense_Mutation_p.A228V	NM_005399	NP_005390	O43741	AAKB2_HUMAN	AMP-activated protein kinase beta 2	228					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				lung(2)|skin(1)	3	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	AGGGAGTAAGGCTGGGTCACA	0.408													A	146633349	G	A	146633349	3	1	27	1	0	0	0	0	1	0	0	0	12496	1203	42	2	143	2	PRKAB2	1	146633349	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	987218	146633349	102617272	417	24368											
FMO5	2330	broad.mit.edu	37	chr1	146680462	146680462	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggtcaaacctttggtttAtctttttttccaaatatttg	5	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:146680462A>G	uc001epi.2	-	6	1171	c.782T>C	c.(781-783)ATA>ACA	p.I261T	FMO5_uc001eph.3_Missense_Mutation_p.I261T|FMO5_uc001epj.2_Missense_Mutation_p.I261T|FMO5_uc001epk.3_Missense_Mutation_p.I261T	NM_001461	NP_001452	P49326	FMO5_HUMAN	flavin containing monooxygenase 5 isoform 1	261						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			ovary(3)	3	all_hematologic(923;0.0487)					CCTTTGGTTTATCTTTTTTTC	0.403													G	146680462	A	G	146680462	3	3	27	1	0	0	0	0	1	0	0	0	5958	449	16	3	978	3	FMO5	1	146680462	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	47113	146680462	102570159	418	24369											
CHD1L	9557	broad.mit.edu	37	chr1	146766192	146766192	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctgcaagaggcatcccaActtacatgtatccttttgtg	9	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:146766192A>G	uc001epm.3	+	22	2671	c.2608A>G	c.(2608-2610)ACT>GCT	p.T870A	uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.T757A|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.T776A|CHD1L_uc010ozp.1_Missense_Mutation_p.T589A|CHD1L_uc001epo.3_Missense_Mutation_p.T666A|CHD1L_uc009wji.2_Missense_Mutation_p.T589A	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein	870	Macro.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.0487)					AGGCATCCCAACTTACATGTA	0.423													G	146766192	A	G	146766192	3	3	27	1	0	0	0	0	1	0	0	0	3324	43	2	3	2694	3	CHD1L	1	146766192	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	85730	146766192	102484429	419	24370											
BCL9	607	broad.mit.edu	37	chr1	147090655	147090655	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccttcggaatgatccgAaacctctcccacaacagccc	6	18	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:147090655A>G	uc001epq.2	+	8	1434	c.694A>G	c.(694-696)AAA>GAA	p.K232E	BCL9_uc010ozr.1_Missense_Mutation_p.K158E	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	232	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					GAATGATCCGAAACCTCTCCC	0.478			T	IGH@|IGL@	B-ALL								G	147090655	A	G	147090655	3	3	27	1	0	0	0	0	1	0	0	0	1381	247	9	3	712	3	BCL9	1	147090655	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	324463	147090655	102159966	420	24371											
ACP6	51205	broad.mit.edu	37	chr1	147131101	147131101	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgacactggaaaagcccaGccagcaaacaacgggtggac	11	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:147131101G>T	uc001epr.2	-	4	997	c.533C>A	c.(532-534)GCT>GAT	p.A178D	ACP6_uc009wjj.1_Missense_Mutation_p.A135D	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic precursor	178					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			ovary(4)	4	all_hematologic(923;0.0276)					GAAAAGCCCAGCCAGCAAACA	0.443													T	147131101	G	T	147131101	3	4	27	1	0	0	0	0	1	0	0	0	165	971	34	5	781	5	ACP6	1	147131101	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	40446	147131101	102119520	421	24372											
HIST2H2AC	8338	broad.mit.edu	37	chr1	149858906	149858906	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgaaagccacaaagccaaaAgcaaataaatgcagacaaac	6	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:149858906A>G	uc001etd.2	+	1	382	c.382A>G	c.(382-384)AGC>GGC	p.S128G	HIST2H2BE_uc001etc.2_5'Flank	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	128					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CAAAGCCAAAAGCAAATAAAT	0.463													G	149858906	A	G	149858906	3	3	27	1	0	0	0	0	1	0	0	0	7178	72	3	3	384	3	HIST2H2AC	1	149858906	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2727805	149858906	99391715	422	24373											
SV2A	9900	broad.mit.edu	37	chr1	149880804	149880804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgcgccgatattcgggaCcaaaacaggagagaaaattc	11	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:149880804C>T	uc001etg.2	-	8	1810	c.1319G>A	c.(1318-1320)GGT>GAT	p.G440D	SV2A_uc009wlk.2_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.G440D	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	440	Cytoplasmic (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ATATTCGGGACCAAAACAGGA	0.502													T	149880804	C	T	149880804	3	4	27	1	0	0	0	0	1	0	0	0	15414	507	18	4	933	4	SV2A	1	149880804	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	21898	149880804	99369817	423	24374											
SV2A	9900	broad.mit.edu	37	chr1	149884847	149884847	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgaagcccaccacaaagacCtccacaccgtcagccatcag	6	18	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:149884847C>A	uc001etg.2	-	2	1037	c.546G>T	c.(544-546)GAG>GAT	p.E182D	SV2A_uc001eth.2_Missense_Mutation_p.E182D	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	182	Helical; (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CCACAAAGACCTCCACACCGT	0.582													A	149884847	C	A	149884847	3	1	27	1	0	0	0	0	1	0	0	0	15414	680	24	5	1730	5	SV2A	1	149884847	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4043	149884847	99365774	424	24375											
MTMR11	10903	broad.mit.edu	37	chr1	149903306	149903306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggaggccattgagatcaCgatcaccgcgctctgggtga	14	10	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:149903306C>T	uc001etl.3	-	13	1387	c.1136G>A	c.(1135-1137)CGT>CAT	p.R379H	MTMR11_uc001etm.1_Missense_Mutation_p.R307H|MTMR11_uc010pbm.1_Intron|MTMR11_uc010pbn.1_Intron	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	379	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ATTGAGATCACGATCACCGCG	0.522													T	149903306	C	T	149903306	3	4	27	1	0	0	0	0	1	0	0	0	9940	536	19	1	1052	1	MTMR11	1	149903306	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	18459	149903306	99347315	425	24376											
OTUD7B	56957	broad.mit.edu	37	chr1	149916322	149916322	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggagggccaccccctattcCtccattcatgatcttcctct	6	16	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:149916322C>A	uc001etn.2	-	12	2322	c.1966G>T	c.(1966-1968)GGA>TGA	p.G656*		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	656					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCCCCTATTCCTCCATTCATG	0.552													A	149916322	C	A	149916322	4	1	27	1	0	0	0	0	0	1	0	0	11319	690	24	5	569	5	OTUD7B	1	149916322	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	13016	149916322	99334299	426	24377											
VPS45	11311	broad.mit.edu	37	chr1	150065723	150065723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacctatatccttatttagGccccagcacactcagagaca	5	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:150065723G>A	uc001etp.2	+	13	2045	c.1472G>A	c.(1471-1473)GGC>GAC	p.G491D	VPS45_uc010pbp.1_RNA|VPS45_uc010pbq.1_Missense_Mutation_p.G455D|VPS45_uc010pbs.1_Missense_Mutation_p.G386D|VPS45_uc001etq.2_Missense_Mutation_p.G311D|VPS45_uc009wlm.1_Missense_Mutation_p.G467D	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45A	491					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				central_nervous_system(1)|skin(1)	2	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTTATTTAGGCCCCAGCACA	0.353													A	150065723	G	A	150065723	3	1	27	1	0	0	0	0	1	0	0	0	17208	1203	42	2	1522	2	VPS45	1	150065723	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	149401	150065723	99184898	427	24378											
RPRD2	23248	broad.mit.edu	37	chr1	150444063	150444063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccagttatagccacagagCccaagaatttggggtaaagt	11	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:150444063C>T	uc009wlr.2	+	11	2840	c.2639C>T	c.(2638-2640)GCC>GTC	p.A880V	RPRD2_uc010pcc.1_Missense_Mutation_p.A854V|RPRD2_uc001eup.3_Missense_Mutation_p.A854V	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	880	Ser-rich.						protein binding			ovary(1)	1						AGCCACAGAGCCCAAGAATTT	0.488													T	150444063	C	T	150444063	3	4	27	1	0	0	0	0	1	0	0	0	13617	739	26	2	2681	2	RPRD2	1	150444063	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	378340	150444063	98806558	428	24379											
RPRD2	23248	broad.mit.edu	37	chr1	150444378	150444378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacacccttgccgctcccaCgggtcacccacccacgtcag	8	20	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:150444378C>T	uc009wlr.2	+	11	3155	c.2954C>T	c.(2953-2955)ACG>ATG	p.T985M	RPRD2_uc010pcc.1_Silent_p.H912H|RPRD2_uc001eup.3_Missense_Mutation_p.T959M	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	985							protein binding			ovary(1)	1						GCCGCTCCCACGGGTCACCCA	0.547													T	150444378	C	T	150444378	3	4	27	1	0	0	0	0	1	0	0	0	13617	536	19	1	2996	1	RPRD2	1	150444378	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	315	150444378	98806243	429	24380											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150525402	150525402	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggacactctcttcagacacCtacagaggagggccagggcc	12	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:150525402C>A	uc001eux.2	+	5	343	c.107C>A	c.(106-108)CCT>CAT	p.P36H	ADAMTSL4_uc001euw.2_Missense_Mutation_p.P36H|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.P36H|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.P36H	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	36					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTTCAGACACCTACAGAGGAG	0.587													A	150525402	C	A	150525402	3	1	27	1	0	0	0	0	1	0	0	0	277	681	24	5	117	5	ADAMTSL4	1	150525402	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	81024	150525402	98725219	430	24381											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150530529	150530529	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggggtggctcctcggtgccCccggagcgctgtggacatct	17	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:150530529C>A	uc001eux.2	+	14	2522	c.2286C>A	c.(2284-2286)CCC>CCA	p.P762P	ADAMTSL4_uc001euw.2_Silent_p.P762P|ADAMTSL4_uc009wlw.2_Silent_p.P785P|ADAMTSL4_uc010pcg.1_Silent_p.P723P|ADAMTSL4_uc009wlx.2_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	762	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCTCGGTGCCCCCGGAGCGCT	0.682													A	150530529	C	A	150530529	2	1	27	1	0	0	0	0	0	0	0	1	277	610	22	5		5	ADAMTSL4	1	150530529	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5127	150530529	98720092	431	24382											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150531943	150531943	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccacgccctggagcccaGtgagtgtctggctgcgctgt	13	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:150531943G>A	uc001eux.2	+	17	3179	c.2943_splice	c.e17+1	p.P981_splice	ADAMTSL4_uc009wlw.2_Splice_Site_p.P1004_splice|ADAMTSL4_uc010pcg.1_Splice_Site_p.P942_splice|ADAMTSL4_uc009wlx.2_Splice_Site_p.P144_splice	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1						apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTGGAGCCCAGTGAGTGTCTG	0.667											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	150531943	G	A	150531943	5	1	27	1	0	0	0	0	0	0	1	0	277	1043	36	4	3077	4	ADAMTSL4	1	150531943	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1414	150531943	98718678	432	24383											
C1orf56	54964	broad.mit.edu	37	chr1	151021160	151021160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgtgcctctcagagcacCaccagtaccaggaccaccac	7	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:151021160C>T	uc001ewn.2	+	1	902	c.837C>T	c.(835-837)ACC>ACT	p.T279T		NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	hypothetical protein LOC54964 precursor	279						extracellular region					0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTCAGAGCACCACCAGTACCA	0.602											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	151021160	C	T	151021160	2	4	27	1	0	0	0	0	0	0	0	1	2048	581	21	4		4	C1orf56	1	151021160	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	489217	151021160	98229461	433	24384											
PIP5K1A	8394	broad.mit.edu	37	chr1	151214608	151214608	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccttttgaagtgaagccttCtccttccaaaaagtttcggt	7	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:151214608C>T	uc001exj.2	+	13	1825	c.1373C>T	c.(1372-1374)TCT>TTT	p.S458F	PIP5K1A_uc001exi.2_Missense_Mutation_p.S445F|PIP5K1A_uc010pcu.1_Missense_Mutation_p.S418F|PIP5K1A_uc001exk.2_Intron|PIP5K1A_uc010pcv.1_Intron	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	458					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			ovary(1)|central_nervous_system(1)|skin(1)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTGAAGCCTTCTCCTTCCAAA	0.468													T	151214608	C	T	151214608	3	4	27	1	0	0	0	0	1	0	0	0	11939	913	32	4	1423	4	PIP5K1A	1	151214608	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	193448	151214608	98036013	434	24385											
PI4KB	5298	broad.mit.edu	37	chr1	151280078	151280078	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagttgaggacaacagccTgtgtgtggggtacacggacc	16	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:151280078T>G	uc001ext.2	-	4	1569	c.1154A>C	c.(1153-1155)CAG>CCG	p.Q385P	PI4KB_uc001exr.2_Missense_Mutation_p.Q397P|PI4KB_uc001exs.2_Missense_Mutation_p.Q370P|PI4KB_uc001exu.2_Missense_Mutation_p.Q370P|PI4KB_uc010pcw.1_Missense_Mutation_p.Q53P	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	catalytic phosphatidylinositol 4-kinase beta	385					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			ovary(2)|skin(2)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GACAACAGCCTGTGTGTGGGG	0.572													G	151280078	T	G	151280078	3	3	27	1	0	0	0	0	1	0	0	0	11874	1580	55	5	1332	5	PI4KB	1	151280078	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	65470	151280078	97970543	435	24386											
RFX5	5993	broad.mit.edu	37	chr1	151315256	151315256	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtccttggtcaccaccTatgcctacctctctgttctc	7	15	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:151315256T>C	uc001exv.1	-	11	1471	c.1257A>G	c.(1255-1257)ATA>ATG	p.I419M	RFX5_uc001exw.1_Missense_Mutation_p.I419M|RFX5_uc009wmr.1_Missense_Mutation_p.I419M|RFX5_uc010pcx.1_Missense_Mutation_p.I379M	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	419						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTCACCACCTATGCCTACCT	0.602													C	151315256	T	C	151315256	3	2	27	1	0	0	0	0	1	0	0	0	13266	1512	53	3	597	3	RFX5	1	151315256	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	35178	151315256	97935365	436	24387											
RFX5	5993	broad.mit.edu	37	chr1	151317258	151317258	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtcagtgtgctcttccAggtggttgcggatccaccta	13	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:151317258A>G	uc001exv.1	-	6	513	c.299T>C	c.(298-300)CTG>CCG	p.L100P	RFX5_uc001exw.1_Missense_Mutation_p.L100P|RFX5_uc009wmr.1_Missense_Mutation_p.L100P|RFX5_uc010pcx.1_Intron	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	100	RFX-type winged-helix.|Potential.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTGCTCTTCCAGGTGGTTGCG	0.363													G	151317258	A	G	151317258	3	3	27	1	0	0	0	0	1	0	0	0	13266	188	7	3	1575	3	RFX5	1	151317258	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2002	151317258	97933363	437	24388											
POGZ	23126	broad.mit.edu	37	chr1	151378320	151378320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcataggagatcttaaacCccccttccaaagaacgtcct	5	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:151378320C>T	uc001eyd.1	-	19	3497	c.3191G>A	c.(3190-3192)GGG>GAG	p.G1064E	POGZ_uc001eye.1_Missense_Mutation_p.G1011E|POGZ_uc010pdb.1_Missense_Mutation_p.G1055E|POGZ_uc001eyf.1_Missense_Mutation_p.G1020E|POGZ_uc010pdc.1_Missense_Mutation_p.G1002E|POGZ_uc009wmv.1_Missense_Mutation_p.G969E|POGZ_uc010pdd.1_Missense_Mutation_p.G555E	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1064	HTH CENPB-type.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GATCTTAAACCCCCCTTCCAA	0.557													T	151378320	C	T	151378320	3	4	27	1	0	0	0	0	1	0	0	0	12186	623	22	4	1045	4	POGZ	1	151378320	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	61062	151378320	97872301	438	24389											
POGZ	23126	broad.mit.edu	37	chr1	151380621	151380621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaacagcaggtgctatagCgacacagagagcagtgtacg	14	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:151380621C>T	uc001eyd.1	-	15	2636	c.2330G>A	c.(2329-2331)CGC>CAC	p.R777H	POGZ_uc001eye.1_Missense_Mutation_p.R724H|POGZ_uc010pdb.1_Missense_Mutation_p.R768H|POGZ_uc001eyf.1_Missense_Mutation_p.R733H|POGZ_uc010pdc.1_Missense_Mutation_p.R715H|POGZ_uc009wmv.1_Missense_Mutation_p.R682H|POGZ_uc010pdd.1_Missense_Mutation_p.R268H	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	777	C2H2-type 8.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTGCTATAGCGACACAGAGA	0.463													T	151380621	C	T	151380621	3	4	27	1	0	0	0	0	1	0	0	0	12186	768	27	1	1922	1	POGZ	1	151380621	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2301	151380621	97870000	439	24390											
POGZ	23126	broad.mit.edu	37	chr1	151400884	151400884	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcttaacaaactgggtacCtggggctttaaaagagagac	12	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:151400884C>A	uc001eyd.1	-	6	880	c.574G>T	c.(574-576)GGT>TGT	p.G192C	POGZ_uc001eye.1_Missense_Mutation_p.G139C|POGZ_uc010pdb.1_Missense_Mutation_p.G192C|POGZ_uc001eyf.1_Missense_Mutation_p.G139C|POGZ_uc010pdc.1_Missense_Mutation_p.G139C|POGZ_uc009wmv.1_Missense_Mutation_p.G97C|POGZ_uc010pdd.1_Intron|POGZ_uc001eyg.1_Missense_Mutation_p.G192C	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	192					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	p.G192D(1)		ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AACTGGGTACCTGGGGCTTTA	0.498													A	151400884	C	A	151400884	3	1	27	1	0	0	0	0	1	0	0	0	12186	681	24	5	3728	5	POGZ	1	151400884	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	20263	151400884	97849737	440	24391											
CGN	57530	broad.mit.edu	37	chr1	151506503	151506503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggctgagcgggacacagCccggctggacaaagagctac	14	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:151506503C>T	uc009wmw.2	+	15	2939	c.2795C>T	c.(2794-2796)GCC>GTC	p.A932V	CGN_uc010pde.1_5'Flank	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	926	Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CGGGACACAGCCCGGCTGGAC	0.632													T	151506503	C	T	151506503	3	4	27	1	0	0	0	0	1	0	0	0	3303	739	26	2	2849	2	CGN	1	151506503	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	105619	151506503	97744118	441	24392											
CGN	57530	broad.mit.edu	37	chr1	151509216	151509216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcccagctaagcctgaGggtgaaggctttgaagcgtc	13	11	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:151509216G>A	uc009wmw.2	+	20	3461	c.3317G>A	c.(3316-3318)AGG>AAG	p.R1106K	CGN_uc010pde.1_Missense_Mutation_p.R100K	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	1100	Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTAAGCCTGAGGGTGAAGGCT	0.527													A	151509216	G	A	151509216	3	1	27	1	0	0	0	0	1	0	0	0	3303	1000	35	4	3391	4	CGN	1	151509216	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2713	151509216	97741405	442	24393											
LINGO4	339398	broad.mit.edu	37	chr1	151773766	151773766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccgtagctgcactgagCggatctccagtgtcccatcc	10	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:151773766C>T	uc001ezf.1	-	2	1605	c.1415G>A	c.(1414-1416)CGC>CAC	p.R472H		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	472	Extracellular (Potential).|Ig-like C2-type.					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGCACTGAGCGGATCTCCAG	0.607													T	151773766	C	T	151773766	3	4	27	1	0	0	0	0	1	0	0	0	8817	768	27	1	370	1	LINGO4	1	151773766	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	264550	151773766	97476855	443	24394											
TCHHL1	126637	broad.mit.edu	37	chr1	152058504	152058504	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccttcctctgaagccaggcTgttgggagtttcagaagacc	12	11	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:152058504T>C	uc001ezo.1	-	3	1719	c.1654A>G	c.(1654-1656)AGC>GGC	p.S552G		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	552							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GAAGCCAGGCTGTTGGGAGTT	0.552													C	152058504	T	C	152058504	3	2	27	1	0	0	0	0	1	0	0	0	15698	1580	55	3	1064	3	TCHHL1	1	152058504	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	284738	152058504	97192117	444	24395											
TCHH	7062	broad.mit.edu	37	chr1	152081767	152081767	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgggacttcctgtcgcgcCttttggcttccttttgctct	9	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:152081767C>A	uc001ezp.2	-	2	3926	c.3926G>T	c.(3925-3927)AGG>ATG	p.R1309M	TCHH_uc009wne.1_Missense_Mutation_p.R1309M	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1309	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGTCGCGCCTTTTGGCTTC	0.547													A	152081767	C	A	152081767	3	1	27	1	0	0	0	0	1	0	0	0	15697	681	24	5	1909	5	TCHH	1	152081767	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	23263	152081767	97168854	445	24396											
TCHH	7062	broad.mit.edu	37	chr1	152083746	152083746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcgcctttcctgctgctcGcgccttagttgctgctggcg	12	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:152083746G>A	uc001ezp.2	-	2	1947	c.1947C>T	c.(1945-1947)CGC>CGT	p.R649R	TCHH_uc009wne.1_Silent_p.R649R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	649	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGCTGCTCGCGCCTTAGTT	0.677													A	152083746	G	A	152083746	2	1	27	1	0	0	0	0	0	0	0	1	15697	1074	38	1		1	TCHH	1	152083746	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1979	152083746	97166875	446	24397											
HRNR	388697	broad.mit.edu	37	chr1	152187726	152187726	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagccagaggagtgacctgAgccagacccatgctgactgt	13	11	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:152187726A>G	uc001ezt.1	-	3	6455	c.6379T>C	c.(6379-6381)TCA>CCA	p.S2127P		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2127	23.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTGACCTGAGCCAGACCCA	0.567													G	152187726	A	G	152187726	3	3	27	1	0	0	0	0	1	0	0	0	7359	304	11	3	2177	3	HRNR	1	152187726	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	103980	152187726	97062895	447	24398											
HRNR	388697	broad.mit.edu	37	chr1	152188530	152188530	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagccagacccatgtcggcCactgctggaagaccaaccgg	12	14	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:152188530C>A	uc001ezt.1	-	3	5651	c.5575G>T	c.(5575-5577)GGC>TGC	p.G1859C		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1859	20.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTCGGCCACTGCTGGAA	0.592													A	152188530	C	A	152188530	3	1	27	1	0	0	0	0	1	0	0	0	7359	594	21	5	2981	5	HRNR	1	152188530	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	804	152188530	97062091	448	24399											
HRNR	388697	broad.mit.edu	37	chr1	152191217	152191217	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctagatgactgtcctgacCtagagccgtgttgttcgtag	11	10	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:152191217C>A	uc001ezt.1	-	3	2964	c.2888G>T	c.(2887-2889)AGG>ATG	p.R963M		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	963	10.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCCTGACCTAGAGCCGTG	0.547													A	152191217	C	A	152191217	3	1	27	1	0	0	0	0	1	0	0	0	7359	681	24	5	5668	5	HRNR	1	152191217	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2687	152191217	97059404	449	24400											
HRNR	388697	broad.mit.edu	37	chr1	152192748	152192748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaccagacacatatgggcCactgctggaagatcgaccaa	10	11	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:152192748C>T	uc001ezt.1	-	3	1433	c.1357G>A	c.(1357-1359)GGC>AGC	p.G453S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	453	4.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACATATGGGCCACTGCTGGAA	0.587													T	152192748	C	T	152192748	3	4	27	1	0	0	0	0	1	0	0	0	7359	594	21	4	7199	4	HRNR	1	152192748	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1531	152192748	97057873	450	24401											
HRNR	388697	broad.mit.edu	37	chr1	152193216	152193216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatccagacccttgtcggcCgtggcccaaagactgacggg	13	13	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:152193216C>T	uc001ezt.1	-	3	965	c.889G>A	c.(889-891)GGC>AGC	p.G297S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	297	3.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTGTCGGCCGTGGCCCAAA	0.607													T	152193216	C	T	152193216	3	4	27	1	0	0	0	0	1	0	0	0	7359	652	23	1	7667	1	HRNR	1	152193216	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	468	152193216	97057405	451	24402											
FLG	2312	broad.mit.edu	37	chr1	152275456	152275456	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctccaaactaaacctgatTgacctttttgcctttcagtg	6	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:152275456T>C	uc001ezu.1	-	3	11942	c.11906A>G	c.(11905-11907)CAA>CGA	p.Q3969R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3969					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAAACCTGATTGACCTTTTTG	0.428									Ichthyosis				C	152275456	T	C	152275456	3	2	27	1	0	0	0	0	1	0	0	0	5922	1812	63	3	283	3	FLG	1	152275456	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	82240	152275456	96975165	452	24403											
FLG	2312	broad.mit.edu	37	chr1	152275873	152275873	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgagtggaagcttcatggTgacgcgaccctgagtgcctg	14	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:152275873T>C	uc001ezu.1	-	3	11525	c.11489A>G	c.(11488-11490)CAC>CGC	p.H3830R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3830	Filaggrin 23.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTTCATGGTGACGCGACCC	0.582									Ichthyosis				C	152275873	T	C	152275873	3	2	27	1	0	0	0	0	1	0	0	0	5922	1696	59	3	700	3	FLG	1	152275873	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	417	152275873	96974748	453	24404											
FLG	2312	broad.mit.edu	37	chr1	152278805	152278805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtgacgcgaccctgagtGcctggagccgtctcctgatt	13	12	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:152278805G>A	uc001ezu.1	-	3	8593	c.8557C>T	c.(8557-8559)CAC>TAC	p.H2853Y		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2853	Ser-rich.|Filaggrin 17.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCTGAGTGCCTGGAGCCG	0.572									Ichthyosis				A	152278805	G	A	152278805	3	1	27	1	0	0	0	0	1	0	0	0	5922	1319	46	2	3632	2	FLG	1	152278805	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2932	152278805	96971816	454	24405											
FLG	2312	broad.mit.edu	37	chr1	152280937	152280937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcctctgcttggccccGggtgtccacgaatggtgtcc	11	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:152280937G>A	uc001ezu.1	-	3	6461	c.6425C>T	c.(6424-6426)CCG>CTG	p.P2142L		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2142	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTTGGCCCCGGGTGTCCACG	0.577									Ichthyosis				A	152280937	G	A	152280937	3	1	27	1	0	0	0	0	1	0	0	0	5922	1116	39	1	5764	1	FLG	1	152280937	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2132	152280937	96969684	455	24406											
FLG	2312	broad.mit.edu	37	chr1	152282226	152282226	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctggctaccactggacccTcggtttccactgtctccgac	9	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:152282226T>C	uc001ezu.1	-	3	5172	c.5136A>G	c.(5134-5136)CGA>CGG	p.R1712R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1712	Ser-rich.|Filaggrin 10.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R1712P(1)		ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACTGGACCCTCGGTTTCCAC	0.587									Ichthyosis				C	152282226	T	C	152282226	2	2	27	1	0	0	0	0	0	0	0	1	5922	1538	54	3		3	FLG	1	152282226	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1289	152282226	96968395	456	24407											
FLG	2312	broad.mit.edu	37	chr1	152285766	152285766	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctatttaccgattgctcGtggtgggatccctgccttcc	10	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:152285766G>A	uc001ezu.1	-	3	1632	c.1596C>T	c.(1594-1596)CAC>CAT	p.H532H	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	532	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGATTGCTCGTGGTGGGATC	0.587									Ichthyosis				A	152285766	G	A	152285766	2	1	27	1	0	0	0	0	0	0	0	1	5922	1136	40	1		1	FLG	1	152285766	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3540	152285766	96964855	457	24408											
FLG2	388698	broad.mit.edu	37	chr1	152323458	152323458	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtcctgaatgtgtgtgTgagccccatgagtgcacttc	12	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:152323458T>G	uc001ezw.3	-	3	6877	c.6804A>C	c.(6802-6804)TCA>TCC	p.S2268S	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	2268							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATGTGTGTGTGAGCCCCATG	0.517													G	152323458	T	G	152323458	2	3	27	1	0	0	0	0	0	0	0	1	5923	1683	59	5		5	FLG2	1	152323458	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	37692	152323458	96927163	458	24409											
FLG2	388698	broad.mit.edu	37	chr1	152325465	152325465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgagatccggcttggccGtaagtgtgttctcgtgagtg	15	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:152325465G>A	uc001ezw.3	-	3	4870	c.4797C>T	c.(4795-4797)TAC>TAT	p.Y1599Y	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1599							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGGCTTGGCCGTAAGTGTGTT	0.512													A	152325465	G	A	152325465	2	1	27	1	0	0	0	0	0	0	0	1	5923	1140	40	1		1	FLG2	1	152325465	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2007	152325465	96925156	459	24410											
KPRP	448834	broad.mit.edu	37	chr1	152733357	152733357	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgacaactttcagaaccttgTttgtatccagaaccacttcc	5	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:152733357T>C	uc001fal.1	+	2	1351	c.1293T>C	c.(1291-1293)TGT>TGC	p.C431C		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	431	Pro-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGAACCTTGTTTGTATCCAG	0.582													C	152733357	T	C	152733357	2	2	27	1	0	0	0	0	0	0	0	1	8436	1731	60	3		3	KPRP	1	152733357	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	407892	152733357	96517264	460	24411											
LCE1C	353133	broad.mit.edu	37	chr1	152777882	152777882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggacactttggggtggGgcacttgggagggcacttgg	21	6	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:152777882G>A	uc001fap.1	-	2	124	c.73C>T	c.(73-75)CCC>TCC	p.P25S		NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	25	Pro-rich.				keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			tttggggTGgggcacttggga	0.403													A	152777882	G	A	152777882	3	1	27	1	0	0	0	0	1	0	0	0	8661	1232	43	4	287	4	LCE1C	1	152777882	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	44525	152777882	96472739	461	24412											
PGLYRP3	114771	broad.mit.edu	37	chr1	153274910	153274910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaatgtcacaaaagttccGtgtgtccatgtgaaaggact	9	9	1	1	rs149128791		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:153274910G>A	uc001fbn.1	-	5	756	c.703C>T	c.(703-705)CGG>TGG	p.R235W		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3 precursor	235		Murein.			defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAAAGTTCCGTGTGTCCATG	0.468													A	153274910	G	A	153274910	3	1	27	1	0	0	0	0	1	0	0	0	11795	1144	40	1	334	1	PGLYRP3	1	153274910	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	497028	153274910	95975711	462	24413											
S100A3	6274	broad.mit.edu	37	chr1	153520239	153520239	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcaggcaagtgagcgcacAtactccacaaagtccacctc	9	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:153520239A>G	uc001fca.1	-	3	308	c.225T>C	c.(223-225)TAT>TAC	p.Y75Y	S100A4_uc001fby.2_5'Flank|S100A4_uc001fbz.2_5'Flank|uc009wog.1_Intron	NM_002960	NP_002951	P33764	S10A3_HUMAN	S100 calcium binding protein A3	75	EF-hand 2.						calcium ion binding|protein binding				0	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGAGCGCACATACTCCACAA	0.557													G	153520239	A	G	153520239	2	3	27	1	0	0	0	0	0	0	0	1	13779	224	8	3		3	S100A3	1	153520239	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	245329	153520239	95730382	463	24414											
NPR1	4881	broad.mit.edu	37	chr1	153653743	153653743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacacctggcctatgagcagTtcaacttcaccatggaggat	9	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:153653743T>C	uc001fcs.3	+	3	1430	c.1009T>C	c.(1009-1011)TTC>CTC	p.F337L	NPR1_uc010pdz.1_Missense_Mutation_p.F83L	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	337	Extracellular (Potential).				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|stomach(1)|breast(1)	7	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CTATGAGCAGTTCAACTTCAC	0.537													C	153653743	T	C	153653743	3	2	27	1	0	0	0	0	1	0	0	0	10594	1725	60	3	1019	3	NPR1	1	153653743	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	133504	153653743	95596878	464	24415											
INTS3	65123	broad.mit.edu	37	chr1	153713206	153713206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaatgatgccctcaatgCgtatgtaagtagaatgctgt	10	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:153713206C>T	uc009wom.2	+	3	451	c.230C>T	c.(229-231)GCG>GTG	p.A77V	INTS3_uc001fct.2_Missense_Mutation_p.A77V|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	77					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCCCTCAATGCGTATGTAAGT	0.488													T	153713206	C	T	153713206	3	4	27	1	0	0	0	0	1	0	0	0	7779	768	27	1	236	1	INTS3	1	153713206	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	59463	153713206	95537415	465	24416											
DENND4B	9909	broad.mit.edu	37	chr1	153914821	153914821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgtcctcctccgggtagcGgcccagcagctctgcacccc	10	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:153914821G>A	uc001fdd.1	-	5	1053	c.652C>T	c.(652-654)CGC>TGC	p.R218C		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	218	UDENN.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCCGGGTAGCGGCCCAGCAGC	0.632													A	153914821	G	A	153914821	3	1	27	1	0	0	0	0	1	0	0	0	4434	1116	39	1	3934	1	DENND4B	1	153914821	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	201615	153914821	95335800	466	24417											
CRTC2	200186	broad.mit.edu	37	chr1	153924673	153924673	+	Frame_Shift_Del	DEL	C	C	-													tggtgaggtcaggtagggagCcccccgtgttcatggcaggt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:153924672_153924672GC>G	uc021pab.1	-	9	978	c.819_819GC>C	c.(817-819)ggcfs	p.G273fs	CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_5'UTR	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	273					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGGTAGGGAGCCCCCCGTGT	0.572													-	153924673	C	-	153924673	7	5	27	1	0	1	0	1	0	0	0	0	3900	739	26	0	1283	0	CRTC2	1	153924673	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	9852	153924673	95325948	467	24418											
JTB	10899	broad.mit.edu	37	chr1	153947178	153947178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatggactcgatttgcttccGgaccttttccagagcctttc	8	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:153947178G>A	uc001fds.2	-	5	1141	c.418C>T	c.(418-420)CGG>TGG	p.R140W		NM_006694	NP_006685	O76095	JTB_HUMAN	jumping translocation breakpoint precursor	140	Cytoplasmic (Potential).				apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATTTGCTTCCGGACCTTTTCC	0.483													A	153947178	G	A	153947178	3	1	27	1	0	0	0	0	1	0	0	0	7967	1115	39	1	26	1	JTB	1	153947178	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	22505	153947178	95303443	468	24419											
JTB	10899	broad.mit.edu	37	chr1	153947216	153947216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtccaattgtcgctgaCgaatgatgacaagacaagcg	10	9	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:153947216C>T	uc001fds.2	-	5	1103	c.380G>A	c.(379-381)CGT>CAT	p.R127H		NM_006694	NP_006685	O76095	JTB_HUMAN	jumping translocation breakpoint precursor	127	Cytoplasmic (Potential).				apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTGTCGCTGACGAATGATGAC	0.498													T	153947216	C	T	153947216	3	4	27	1	0	0	0	0	1	0	0	0	7967	536	19	1	64	1	JTB	1	153947216	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	38	153947216	95303405	469	24420											
RAB13	5872	broad.mit.edu	37	chr1	153955047	153955047	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggatttagcactagtttcGaaaaatcggattccatgctc	8	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:153955047G>A	uc001fdt.1	-	6	538	c.444C>T	c.(442-444)TTC>TTT	p.F148F	RAB13_uc001fdu.1_3'UTR	NM_002870	NP_002861	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	148					cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACTAGTTTCGAAAAATCGGA	0.468													A	153955047	G	A	153955047	2	1	27	1	0	0	0	0	0	0	0	1	12899	1049	37	1		1	RAB13	1	153955047	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	7831	153955047	95295574	470	24421											
NUP210L	91181	broad.mit.edu	37	chr1	153967602	153967602	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaagagggtcaagagcAggatctggtaagagccagtg	15	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:153967602A>G	uc001fdw.2	-	38	5513	c.5441T>C	c.(5440-5442)CTG>CCG	p.L1814P	NUP210L_uc009woq.2_Missense_Mutation_p.L723P|NUP210L_uc010peh.1_Missense_Mutation_p.L1662P	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	1814	Helical; (Potential).					integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GGTCAAGAGCAGGATCTGGTA	0.418													G	153967602	A	G	153967602	3	3	27	1	0	0	0	0	1	0	0	0	10761	188	7	3	237	3	NUP210L	1	153967602	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	12555	153967602	95283019	471	24422											
NUP210L	91181	broad.mit.edu	37	chr1	154091248	154091248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcttcacttcttgttggtGtttgattagaaattttatag	7	4	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:154091248G>A	uc001fdw.2	-	11	1435	c.1363C>T	c.(1363-1365)CAC>TAC	p.H455Y	NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.H455Y	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	455						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TCTTGTTGGTGTTTGATTAGA	0.299													A	154091248	G	A	154091248	3	1	27	1	0	0	0	0	1	0	0	0	10761	1377	48	4	4423	4	NUP210L	1	154091248	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	123646	154091248	95159373	472	24423											
CHRNB2	1141	broad.mit.edu	37	chr1	154544124	154544124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatctcagtgctgctggcGctcacggtcttcctgctgct	11	14	3	0	rs140739605		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:154544124G>A	uc001ffg.2	+	5	1089	c.825G>A	c.(823-825)GCG>GCA	p.A275A		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	275	Helical; (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	TGCTGCTGGCGCTCACGGTCT	0.577													A	154544124	G	A	154544124	2	1	27	1	0	0	0	0	0	0	0	1	3391	1074	38	1		1	CHRNB2	1	154544124	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	452876	154544124	94706497	473	24424											
ADAR	103	broad.mit.edu	37	chr1	154569657	154569657	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagggccttcatggcttccTctgcggccatctgctttgcc	11	15	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:154569657T>C	uc001ffh.2	-	5	2221	c.2021A>G	c.(2020-2022)GAG>GGG	p.E674G	ADAR_uc001ffj.2_Missense_Mutation_p.E674G|ADAR_uc001ffi.2_Missense_Mutation_p.E674G|ADAR_uc001ffk.2_Missense_Mutation_p.E379G	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	674	DRBM 2.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CATGGCTTCCTCTGCGGCCAT	0.522													C	154569657	T	C	154569657	3	2	27	1	0	0	0	0	1	0	0	0	281	1551	54	3	1703	3	ADAR	1	154569657	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	25533	154569657	94680964	474	24425											
PMVK	10654	broad.mit.edu	37	chr1	154897634	154897634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcggataaattctatcaGgttctccaactgctcctcca	8	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:154897634G>A	uc001ffq.2	-	5	873	c.550C>T	c.(550-552)CTG>TTG	p.L184L		NM_006556	NP_006547	Q15126	PMVK_HUMAN	phosphomevalonate kinase	184					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding				0	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AATTCTATCAGGTTCTCCAAC	0.547													A	154897634	G	A	154897634	2	1	27	1	0	0	0	0	0	0	0	1	12144	991	35	4		4	PMVK	1	154897634	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	327977	154897634	94352987	475	24426											
SHC1	6464	broad.mit.edu	37	chr1	154942911	154942912	+	Frame_Shift_Ins	INS	-	-	G													tggggaaggcagctcctccgINSggggggtggacccagaagcc					rs115641580	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:154942910_154942911C>CG	uc001ffv.3	-	0	313_314	c.92_93G>CG	c.(91-93)ccgfs	p.P31fs	SHC1_uc001ffw.3_Frame_Shift_Ins_p.P31fs|SHC1_uc001ffx.3_Intron|SHC1_uc001ffy.3_Intron|SHC1_uc001ffz.1_5'Flank	NM_183001	NP_001189788	P29353	SHC1_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 1 (SHC1), transcript variant 1, mRNA.	31					Ras protein signal transduction|activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|regulation of epidermal growth factor receptor activity|regulation of growth	Shc-EGFR complex|cytosol|mitochondrial matrix	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.E32fs*23(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCAGCTCCTCCGGGGGGGTGGA	0.619													G	154942912	-	G	154942911	7	5	27	1	0	1	1	0	0	0	0	0	14270	1116	39	0	1710	0	SHC1	1	154942911	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	45277	154942911	94307710	476	24427											
TRIM46	80128	broad.mit.edu	37	chr1	155147963	155147963	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccacaacgtgtgccaggcCtgtgcccgagaggtcttggg	14	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:155147963C>A	uc001fhs.1	+	2	248	c.165C>A	c.(163-165)GCC>GCA	p.A55A	RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fho.2_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_RNA|TRIM46_uc010pez.1_Silent_p.A42A|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Silent_p.A55A|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Intron|TRIM46_uc001fhu.1_Silent_p.A32A|TRIM46_uc009wpg.1_Silent_p.A42A|TRIM46_uc009wpf.2_Silent_p.A42A|TRIM46_uc001fhv.3_Silent_p.A42A|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	55	RING-type 1; degenerate.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGTGCCAGGCCTGTGCCCGAG	0.622													A	155147963	C	A	155147963	2	1	27	1	0	0	0	0	0	0	0	1	16518	668	24	5		5	TRIM46	1	155147963	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	205052	155147963	94102658	477	24428											
TRIM46	80128	broad.mit.edu	37	chr1	155154445	155154445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctgctggctgctgaccGgctgctgaccggctgccacc	13	17	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:155154445G>A	uc001fhs.1	+	9	1789	c.1706G>A	c.(1705-1707)CGG>CAG	p.R569Q	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.R443Q|TRIM46_uc001fhu.1_Missense_Mutation_p.R546Q|TRIM46_uc009wpg.1_Missense_Mutation_p.R556Q|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	569	B30.2/SPRY.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			gctgctgaccggctgctgacc	0.582													A	155154445	G	A	155154445	3	1	27	1	0	0	0	0	1	0	0	0	16518	1116	39	1	1740	1	TRIM46	1	155154445	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	6482	155154445	94096176	478	24429											
THBS3	7059	broad.mit.edu	37	chr1	155169629	155169629	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcacagacatcccccaccaGgtcgctgtctgcatctgtct	7	16	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:155169629G>T	uc001fix.2	-	16	1869	c.1846C>A	c.(1846-1848)CTG>ATG	p.L616M	RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Missense_Mutation_p.L607M|THBS3_uc001fiz.2_Missense_Mutation_p.L579M|THBS3_uc001fiy.2_Missense_Mutation_p.L145M|THBS3_uc010pfu.1_Missense_Mutation_p.L496M|THBS3_uc010pfv.1_RNA	NM_007112	NP_009043	P49746	TSP3_HUMAN	thrombospondin 3 precursor	616	TSP type-3 6.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(3)|ovary(2)	5	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCCCCACCAGGTCGCTGTCT	0.408													T	155169629	G	T	155169629	3	4	27	1	0	0	0	0	1	0	0	0	15852	991	35	5	1056	5	THBS3	1	155169629	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	15184	155169629	94080992	479	24430											
FAM189B	10712	broad.mit.edu	37	chr1	155220430	155220430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttcctcgaaggggccccGcaggccacagtccaggctga	13	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:155220430G>A	uc001fjm.2	-	9	1753	c.1147C>T	c.(1147-1149)CGG>TGG	p.R383W	RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_Missense_Mutation_p.R185W|FAM189B_uc001fjn.2_Missense_Mutation_p.R287W|FAM189B_uc001fjo.2_Missense_Mutation_p.R365W|FAM189B_uc001fjp.2_Intron	NM_006589	NP_006580	P81408	F189B_HUMAN	hypothetical protein LOC10712 isoform a	383						integral to membrane	WW domain binding			ovary(1)|breast(1)	2						AAGGGGCCCCGCAGGCCACAG	0.706													A	155220430	G	A	155220430	3	1	27	1	0	0	0	0	1	0	0	0	5517	1086	38	1	875	1	FAM189B	1	155220430	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	50801	155220430	94030191	480	24431											
SCAMP3	10067	broad.mit.edu	37	chr1	155226553	155226553	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cggatactgctgtgttgcccTtcggcaccaccagagcagag	12	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:155226553T>A	uc001fjs.2	-	8	1062	c.809A>T	c.(808-810)AAG>ATG	p.K270M	RAG1AP1_uc010pey.1_Intron|FAM189B_uc001fjm.2_5'Flank|FAM189B_uc001fjn.2_5'Flank|FAM189B_uc001fjo.2_5'Flank|FAM189B_uc001fjp.2_5'Flank|FAM189B_uc001fjq.1_5'Flank|SCAMP3_uc001fjr.2_Missense_Mutation_p.K117M|SCAMP3_uc001fju.2_Missense_Mutation_p.K256M|SCAMP3_uc001fjv.2_Missense_Mutation_p.R266W|SCAMP3_uc001fjt.2_Missense_Mutation_p.K244M	NM_005698	NP_005689	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3 isoform 1	270					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				ovary(3)	3	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGTGTTGCCCTTCGGCACCAC	0.562													A	155226553	T	A	155226553	3	1	27	1	0	0	0	0	1	0	0	0	13872	1609	56	5	242	5	SCAMP3	1	155226553	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	6123	155226553	94024068	481	24432											
FDPS	2224	broad.mit.edu	37	chr1	155289429	155289429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatggcgagaaggagcacGccaatgccaagaagatcctg	13	9	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:155289429G>A	uc001fkc.2	+	9	1093	c.874G>A	c.(874-876)GCC>ACC	p.A292T	RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.A226T|FDPS_uc001fke.2_Missense_Mutation_p.A292T|FDPS_uc001fkf.2_Missense_Mutation_p.A226T|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc009wqn.1_5'Flank	NM_002004	NP_001995	P14324	FPPS_HUMAN	farnesyl diphosphate synthase isoform a	292					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding				0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	GAAGGAGCACGCCAATGCCAA	0.567													A	155289429	G	A	155289429	3	1	27	1	0	0	0	0	1	0	0	0	5803	1087	38	1	904	1	FDPS	1	155289429	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	62876	155289429	93961192	482	24433											
C1orf104	284618	broad.mit.edu	37	chr1	155290616	155290616	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgacaaaagacgctaaacgCtgggggcgggtctgagctac	15	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:155290616C>A	uc001fki.2	-	2	941	c.664G>T	c.(664-666)GCG>TCG	p.A222S	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank	NM_001039517	NP_001034606	Q66K80	RUAS1_HUMAN	hypothetical protein LOC284618	222											0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.32e-10)|all cancers(21;3.51e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			ACGCTAAACGCTGGGGGCGGG	0.637													A	155290616	C	A	155290616	3	1	27	1	0	0	0	0	1	0	0	0	1978	797	28	5	50	5	C1orf104	1	155290616	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1187	155290616	93960005	483	24434											
ASH1L	55870	broad.mit.edu	37	chr1	155349857	155349857	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgtgtttccactgccaaaGgatatcataaggaagctgga	10	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:155349857G>T	uc009wqq.2	-	8	6649	c.6169C>A	c.(6169-6171)CTT>ATT	p.L2057I	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.L2052I	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2057					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CACTGCCAAAGGATATCATAA	0.363													T	155349857	G	T	155349857	3	4	27	1	0	0	0	0	1	0	0	0	1041	1000	35	5	2824	5	ASH1L	1	155349857	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	59241	155349857	93900764	484	24435											
ASH1L	55870	broad.mit.edu	37	chr1	155449639	155449639	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactttccctttattacttgAttctacagaacttgaaagaa	4	9	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:155449639A>G	uc009wqq.2	-	3	3502	c.3022T>C	c.(3022-3024)TCA>CCA	p.S1008P	ASH1L_uc001fkt.2_Missense_Mutation_p.S1008P|ASH1L_uc009wqr.1_Missense_Mutation_p.S1008P	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1008					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTATTACTTGATTCTACAGAA	0.333													G	155449639	A	G	155449639	3	3	27	1	0	0	0	0	1	0	0	0	1041	333	12	3	5976	3	ASH1L	1	155449639	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	99782	155449639	93800982	485	24436											
ASH1L	55870	broad.mit.edu	37	chr1	155450153	155450153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcccttccagttgaggCatctccttagatttaggcct	11	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:155450153C>T	uc009wqq.2	-	3	2988	c.2508G>A	c.(2506-2508)ATG>ATA	p.M836I	ASH1L_uc001fkt.2_Missense_Mutation_p.M836I|ASH1L_uc009wqr.1_Missense_Mutation_p.M836I	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	836					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCAGTTGAGGCATCTCCTTAG	0.403													T	155450153	C	T	155450153	3	4	27	1	0	0	0	0	1	0	0	0	1041	710	25	2	6490	2	ASH1L	1	155450153	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	514	155450153	93800468	486	24437											
ASH1L	55870	broad.mit.edu	37	chr1	155450980	155450980	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaggattaacagatacagTaggtgatggggaagggagat	15	2	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:155450980T>C	uc009wqq.2	-	3	2161	c.1681A>G	c.(1681-1683)ACT>GCT	p.T561A	ASH1L_uc001fkt.2_Missense_Mutation_p.T561A|ASH1L_uc009wqr.1_Missense_Mutation_p.T561A	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	561					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACAGATACAGTAGGTGATGGG	0.428													C	155450980	T	C	155450980	3	2	27	1	0	0	0	0	1	0	0	0	1041	1638	57	3	7317	3	ASH1L	1	155450980	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	827	155450980	93799641	487	24438											
ASH1L	55870	broad.mit.edu	37	chr1	155451081	155451081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttaaagtccggagaagtgCaatatacaggaggctgcttt	11	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:155451081C>T	uc009wqq.2	-	3	2060	c.1580G>A	c.(1579-1581)TGC>TAC	p.C527Y	ASH1L_uc001fkt.2_Missense_Mutation_p.C527Y|ASH1L_uc009wqr.1_Missense_Mutation_p.C527Y	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	527					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CGGAGAAGTGCAATATACAGG	0.433													T	155451081	C	T	155451081	3	4	27	1	0	0	0	0	1	0	0	0	1041	710	25	2	7418	2	ASH1L	1	155451081	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	101	155451081	93799540	488	24439											
DAP3	7818	broad.mit.edu	37	chr1	155706793	155706794	+	Frame_Shift_Ins	INS	-	-	A													tggtttccaactataacccaINSaaggaatttgaaagttgtat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:155706792_155706793C>CA	uc001flq.3	+	11	1206_1207	c.1049_1050C>CA	c.(1048-1050)ccafs	p.P350fs	GON4L_uc021paz.1_Intron|DAP3_uc010pgl.2_Frame_Shift_Ins_p.P309fs|DAP3_uc010pgm.2_Frame_Shift_Ins_p.P316fs|DAP3_uc001fls.3_Frame_Shift_Ins_p.P350fs|DAP3_uc001flr.3_Frame_Shift_Ins_p.P350fs	NM_033657	NP_387506	P51398	RT29_HUMAN	Homo sapiens death associated protein 3 (DAP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	350					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AACTATAACCCAAAGGAATTTG	0.376													A	155706794	-	A	155706793	7	5	27	1	0	1	1	0	0	0	0	0	4234	117	5	0	1092	0	DAP3	1	155706793	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	255712	155706793	93543828	489	24440											
GON4L	54856	broad.mit.edu	37	chr1	155721929	155721929	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaggtgtcaattcctgAtggagattcatggacagggc	13	8	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:155721929A>T	uc001flz.2	-	30	6392	c.6295T>A	c.(6295-6297)TCA>ACA	p.S2099T	GON4L_uc001flx.1_5'Flank|GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Missense_Mutation_p.S2098T|GON4L_uc009wrh.1_Missense_Mutation_p.S2098T|GON4L_uc001fma.1_Missense_Mutation_p.S2099T	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	2099					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCAATTCCTGATGGAGATTCA	0.562													T	155721929	A	T	155721929	3	4	27	1	0	0	0	0	1	0	0	0	6572	333	12	5	442	5	GON4L	1	155721929	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	15136	155721929	93528692	490	24441											
SYT11	23208	broad.mit.edu	37	chr1	155838037	155838037	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaggctggcctgctaagcCgagacaaagatcccaggggg	15	11	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:155838037C>T	uc001fmg.2	+	2	579	c.316C>T	c.(316-318)CGA>TGA	p.R106*	SYT11_uc010pgq.1_Intron	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	synaptotagmin XI	106	Cytoplasmic (Potential).					cell junction|synaptic vesicle membrane	protein binding|transporter activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CCTGCTAAGCCGAGACAAAGA	0.512													T	155838037	C	T	155838037	4	4	27	1	0	0	0	0	0	1	0	0	15464	644	23	1	322	1	SYT11	1	155838037	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	116108	155838037	93412584	491	24442											
KIAA0907	22889	broad.mit.edu	37	chr1	155886463	155886463	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacttgctggcttcgatccTgcaccttcaatctcattctg	7	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:155886463T>C	uc001fmi.1	-	12	1530	c.1506A>G	c.(1504-1506)GCA>GCG	p.A502A	KIAA0907_uc001fmj.1_Silent_p.A502A|KIAA0907_uc009wrk.1_Silent_p.A359A|KIAA0907_uc009wrl.1_RNA	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	502											0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GCTTCGATCCTGCACCTTCAA	0.408													C	155886463	T	C	155886463	2	2	27	1	0	0	0	0	0	0	0	1	8199	1567	55	3		3	KIAA0907	1	155886463	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	48426	155886463	93364158	492	24443											
KIAA0907	22889	broad.mit.edu	37	chr1	155891401	155891401	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggagggacactacttataGcagagggttgtgtatagcct	14	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:155891401G>T	uc001fmi.1	-	10	1055	c.1031C>A	c.(1030-1032)GCT>GAT	p.A344D	KIAA0907_uc001fmj.1_Missense_Mutation_p.A344D|KIAA0907_uc009wrk.1_Missense_Mutation_p.A201D|KIAA0907_uc009wrl.1_Intron|SNORA42_uc001fmk.1_5'Flank|KIAA0907_uc001fml.1_Intron	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	344	Pro-rich.										0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			ACTACTTATAGCAGAGGGTTG	0.443													T	155891401	G	T	155891401	3	4	27	1	0	0	0	0	1	0	0	0	8199	971	34	5	833	5	KIAA0907	1	155891401	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4938	155891401	93359220	493	24444											
MEF2D	4209	broad.mit.edu	37	chr1	156452228	156452228	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgtgtgtatgggcccaCctcgatgatgtcggcgttgg	15	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:156452228C>T	uc001fpc.2	-	3	648	c.258_splice	c.e3+1	p.E86_splice	MEF2D_uc001fpb.2_Splice_Site_p.E86_splice|MEF2D_uc001fpd.2_Splice_Site_p.E86_splice|MEF2D_uc001fpe.1_Splice_Site_p.E86_splice|MEF2D_uc009wsa.2_Splice_Site	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D						apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TATGGGCCCACCTCGATGATG	0.587													T	156452228	C	T	156452228	5	4	27	1	0	0	0	0	0	0	1	0	9458	521	18	4	1346	4	MEF2D	1	156452228	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	560827	156452228	92798393	494	24445											
IQGAP3	128239	broad.mit.edu	37	chr1	156498800	156498800	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggtggtcttagtgctcagGccctgtaatgtggcctgcag	14	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:156498800G>T	uc001fpf.2	-	35	4554	c.4479C>A	c.(4477-4479)GGC>GGA	p.G1493G		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1493					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TAGTGCTCAGGCCCTGTAATG	0.607													T	156498800	G	T	156498800	2	4	27	1	0	0	0	0	0	0	0	1	7816	1190	42	5		5	IQGAP3	1	156498800	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	46572	156498800	92751821	495	24446											
IQGAP3	128239	broad.mit.edu	37	chr1	156500056	156500056	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgtcgcagtggctccggTgtctgggctgtacaggcctg	16	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:156500056T>C	uc001fpf.2	-	34	4320	c.4245A>G	c.(4243-4245)ACA>ACG	p.T1415T		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1415					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTGGCTCCGGTGTCTGGGCTG	0.637													C	156500056	T	C	156500056	2	2	27	1	0	0	0	0	0	0	0	1	7816	1683	59	3		3	IQGAP3	1	156500056	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1256	156500056	92750565	496	24447											
IQGAP3	128239	broad.mit.edu	37	chr1	156518533	156518533	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattgatggcagccacaccAagagccactgacaggggcat	12	11	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:156518533A>G	uc001fpf.2	-	17	1908	c.1833T>C	c.(1831-1833)CTT>CTC	p.L611L		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	611					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGCCACACCAAGAGCCACTG	0.602													G	156518533	A	G	156518533	2	3	27	1	0	0	0	0	0	0	0	1	7816	117	5	3		3	IQGAP3	1	156518533	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	18477	156518533	92732088	497	24448											
BCAN	63827	broad.mit.edu	37	chr1	156621427	156621427	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccccatcatggaggacggaGgaggtggaagctccactcca	13	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:156621427G>T	uc001fpp.2	+	7	1579	c.1243G>T	c.(1243-1245)GGA>TGA	p.G415*	BCAN_uc001fpo.2_Nonsense_Mutation_p.G415*	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	415	Glu-rich.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAGGACGGAGGAGGTGGAAG	0.557													T	156621427	G	T	156621427	4	4	27	1	0	0	0	0	0	1	0	0	1345	1001	35	5	1265	5	BCAN	1	156621427	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	102894	156621427	92629194	498	24449											
ISG20L2	81875	broad.mit.edu	37	chr1	156697311	156697311	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgccttgctagggggttggTtctttttactcagaaagcct	12	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:156697311T>C	uc001fps.1	-	1	395	c.134A>G	c.(133-135)AAC>AGC	p.N45S	ISG20L2_uc001fpt.1_Missense_Mutation_p.N45S|C1orf66_uc001fpu.2_5'Flank|C1orf66_uc001fpv.2_5'Flank	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene	45					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGGGGTTGGTTCTTTTTACT	0.488													C	156697311	T	C	156697311	3	2	27	1	0	0	0	0	1	0	0	0	7855	1725	60	3	939	3	ISG20L2	1	156697311	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	75884	156697311	92553310	499	24450											
C1orf66	51093	broad.mit.edu	37	chr1	156703256	156703256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactggtggagagagcccagCgcctggaccaggagcttctg	16	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:156703256C>T	uc001fpu.2	+	5	1214	c.580C>T	c.(580-582)CGC>TGC	p.R194C	C1orf66_uc001fpv.2_Missense_Mutation_p.R194C	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	hypothetical protein LOC51093 isoform 1	194	Potential.					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAGAGCCCAGCGCCTGGACCA	0.617													T	156703256	C	T	156703256	3	4	27	1	0	0	0	0	1	0	0	0	2056	768	27	1	598	1	C1orf66	1	156703256	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5945	156703256	92547365	500	24451											
PRCC	5546	broad.mit.edu	37	chr1	156756637	156756637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggctgctgccaagagtGctgccctgcaggtgacaaag	13	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:156756637G>A	uc001fqa.2	+	3	1044	c.754G>A	c.(754-756)GCT>ACT	p.A252T	PRCC_uc001fqb.2_Missense_Mutation_p.A252T	NM_005973	NP_005964	Q92733	PRCC_HUMAN	papillary renal cell carcinoma	252					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	kidney(25)|central_nervous_system(2)	27	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGCCAAGAGTGCTGCCCTGCA	0.557			T	TFE3	papillary renal 								A	156756637	G	A	156756637	3	1	27	1	0	0	0	0	1	0	0	0	12447	1319	46	2	764	2	PRCC	1	156756637	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	53381	156756637	92493984	501	24452											
SH2D2A	9047	broad.mit.edu	37	chr1	156779524	156779524	+	Frame_Shift_Del	DEL	G	G	-													tttgatgattgggctgtactGggggtttgggtcctggcttt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:156779523_156779523TG>T	uc009wsh.2	-	5	814	c.674_674CA>A	c.(673-675)cagfs	p.Q225fs	SH2D2A_uc001fqc.1_Frame_Shift_Del_p.Q187fs|SH2D2A_uc001fqd.2_Frame_Shift_Del_p.Q215fs|SH2D2A_uc001fqe.2_Frame_Shift_Del_p.Q197fs|SH2D2A_uc010phs.1_Frame_Shift_Del_p.Q215fs	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	Homo sapiens SH2 domain containing 2A (SH2D2A), transcript variant 1, mRNA.	215	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.A225S(1)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGGCTGTACTGGGGGTTTGG	0.582													-	156779524	G	-	156779524	7	5	27	1	0	1	0	1	0	0	0	0	14232	1357	47	0	538	0	SH2D2A	1	156779524	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	22887	156779524	92471097	502	24453											
INSRR	3645	broad.mit.edu	37	chr1	156814013	156814013	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcaagaacgatgagcaGcgtgagccccacaggggtgg	17	10	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:156814013G>A	uc010pht.1	-	15	3051	c.2797C>T	c.(2797-2799)CTG>TTG	p.L933L	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	933	Helical; (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACGATGAGCAGCGTGAGCCCC	0.582													A	156814013	G	A	156814013	2	1	27	1	0	0	0	0	0	0	0	1	7774	962	34	2		2	INSRR	1	156814013	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	34489	156814013	92436608	503	24454											
C1orf92	149499	broad.mit.edu	37	chr1	156897405	156897405	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtctcgctcaacctgggTttcaaccacatcggtgacga	9	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:156897405T>G	uc001fqm.2	+	7	952	c.780T>G	c.(778-780)GGT>GGG	p.G260G	C1orf92_uc001fql.2_Silent_p.G45G	NM_144702	NP_653303	Q8N4P6	LRC71_HUMAN	hypothetical protein LOC149499	260	LRR 4.										0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCAACCTGGGTTTCAACCACA	0.677											OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	156897405	T	G	156897405	2	3	27	1	0	0	0	0	0	0	0	1	2069	1712	60	5		5	C1orf92	1	156897405	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	83392	156897405	92353216	504	24455											
ARHGEF11	9826	broad.mit.edu	37	chr1	156916542	156916542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gataggaacagaactgtgcaGccacttgctggagttcctct	11	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:156916542G>A	uc001fqo.2	-	27	3526	c.2486C>T	c.(2485-2487)GCT>GTT	p.A829V	ARHGEF11_uc010phu.1_Missense_Mutation_p.A245V|ARHGEF11_uc001fqn.2_Missense_Mutation_p.A869V	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	829	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAACTGTGCAGCCACTTGCTG	0.567													A	156916542	G	A	156916542	3	1	27	1	0	0	0	0	1	0	0	0	896	971	34	2	2138	2	ARHGEF11	1	156916542	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	19137	156916542	92334079	505	24456											
ARHGEF11	9826	broad.mit.edu	37	chr1	156918229	156918229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctctgcctttcgagaccGtttcatctcttcccggccct	7	16	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:156918229G>A	uc001fqo.2	-	22	2907	c.1867C>T	c.(1867-1869)CGG>TGG	p.R623W	ARHGEF11_uc010phu.1_Missense_Mutation_p.R39W|ARHGEF11_uc001fqn.2_Missense_Mutation_p.R663W|ARHGEF11_uc001fqp.1_Missense_Mutation_p.R142W	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	623					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTTCGAGACCGTTTCATCTCT	0.587													A	156918229	G	A	156918229	3	1	27	1	0	0	0	0	1	0	0	0	896	1144	40	1	2777	1	ARHGEF11	1	156918229	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1687	156918229	92332392	506	24457											
FCRL5	83416	broad.mit.edu	37	chr1	157488498	157488498	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcgggcctcaccattagtgTacactggttgcagctcttcc	9	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:157488498T>A	uc001fqu.2	-	14	2893	c.2735A>T	c.(2734-2736)TAC>TTC	p.Y912F	FCRL5_uc009wsm.2_Missense_Mutation_p.Y912F	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	912	Cytoplasmic (Potential).|ITIM motif 2.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACCATTAGTGTACACTGGTTG	0.572													A	157488498	T	A	157488498	3	1	27	1	0	0	0	0	1	0	0	0	5798	1638	57	5	214	5	FCRL5	1	157488498	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	570269	157488498	91762123	507	24458											
FCRL4	83417	broad.mit.edu	37	chr1	157556134	157556134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcggtgccaggagaatGtggtatcccctgtgccttca	11	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:157556134G>A	uc001fqw.2	-	6	1095	c.959C>T	c.(958-960)ACA>ATA	p.T320I	FCRL4_uc010phy.1_RNA	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	320	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)|skin(1)	4	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CCAGGAGAATGTGGTATCCCC	0.612													A	157556134	G	A	157556134	3	1	27	1	0	0	0	0	1	0	0	0	5797	1377	48	4	616	4	FCRL4	1	157556134	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	67636	157556134	91694487	508	24459											
FCRL2	79368	broad.mit.edu	37	chr1	157739769	157739769	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacggcagaaatctggagcTccggagagctgctccagcct	12	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:157739769T>C	uc001fre.2	-	4	541	c.482A>G	c.(481-483)GAG>GGG	p.E161G	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.E161G|FCRL2_uc009wsp.2_Intron|FCRL2_uc010pia.1_Missense_Mutation_p.E161G	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	161	Extracellular (Potential).|Ig-like C2-type 2.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AATCTGGAGCTCCGGAGAGCT	0.547													C	157739769	T	C	157739769	3	2	27	1	0	0	0	0	1	0	0	0	5795	1551	54	3	1080	3	FCRL2	1	157739769	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	183635	157739769	91510852	509	24460											
CD1D	912	broad.mit.edu	37	chr1	158152735	158152735	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtctgctgctggtgtgccaTgtctcaggattctacccaaa	10	12	3	0	rs141805163		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:158152735T>C	uc001frr.2	+	5	1174	c.675T>C	c.(673-675)CAT>CAC	p.H225H	CD1D_uc009wss.2_Intron	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	225	Ig-like.|Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			ovary(1)	1	all_hematologic(112;0.0378)					TGGTGTGCCATGTCTCAGGAT	0.612													C	158152735	T	C	158152735	2	2	27	1	0	0	0	0	0	0	0	1	2977	1461	51	3		3	CD1D	1	158152735	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	412966	158152735	91097886	510	24461											
OR10R2	343406	broad.mit.edu	37	chr1	158450322	158450322	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagatgttaacgaatttgtgAtattcatttgtggagttctt	9	4	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:158450322A>T	uc010pik.1	+	1	655	c.655A>T	c.(655-657)ATA>TTA	p.I219L	uc001fso.1_RNA	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	219	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)					CGAATTTGTGATATTCATTTG	0.408													T	158450322	A	T	158450322	3	4	27	1	0	0	0	0	1	0	0	0	10917	333	12	5	657	5	OR10R2	1	158450322	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	297587	158450322	90800299	511	24462											
OR10Z1	128368	broad.mit.edu	37	chr1	158576558	158576558	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcctcatgggcctgtacTaactgcttccttctggctgc	9	14	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:158576558T>C	uc010pio.1	+	1	330	c.330T>C	c.(328-330)ACT>ACC	p.T110T		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					GGGCCTGTACTAACTGCTTCC	0.562													C	158576558	T	C	158576558	2	2	27	1	0	0	0	0	0	0	0	1	10923	1509	53	3		3	OR10Z1	1	158576558	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	126236	158576558	90674063	512	24463											
OR10Z1	128368	broad.mit.edu	37	chr1	158576645	158576645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagccacatgaatcctacCctctgtgcccagctggtcat	8	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:158576645C>T	uc010pio.1	+	1	417	c.417C>T	c.(415-417)ACC>ACT	p.T139T		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					TGAATCCTACCCTCTGTGCCC	0.512													T	158576645	C	T	158576645	2	4	27	1	0	0	0	0	0	0	0	1	10923	610	22	4		4	OR10Z1	1	158576645	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	87	158576645	90673976	513	24464											
SPTA1	6708	broad.mit.edu	37	chr1	158583526	158583526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacctccctggatccacaGcatccaggaacttctcaaac	5	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:158583526G>A	uc001fst.1	-	50	7173	c.6974C>T	c.(6973-6975)GCT>GTT	p.A2325V		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2325	EF-hand 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.A2325A(1)		ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TGGATCCACAGCATCCAGGAA	0.502													A	158583526	G	A	158583526	3	1	27	1	0	0	0	0	1	0	0	0	15115	971	34	2	297	2	SPTA1	1	158583526	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	6881	158583526	90667095	514	24465											
SPTA1	6708	broad.mit.edu	37	chr1	158621206	158621206	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagtccttcaaatagtagaTcatcagctaccttgttgata	7	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:158621206T>A	uc001fst.1	-	24	3627	c.3428A>T	c.(3427-3429)GAT>GTT	p.D1143V		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1143	Spectrin 11.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					AAATAGTAGATCATCAGCTAC	0.453													A	158621206	T	A	158621206	3	1	27	1	0	0	0	0	1	0	0	0	15115	1435	50	5	3947	5	SPTA1	1	158621206	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	37680	158621206	90629415	515	24466											
SPTA1	6708	broad.mit.edu	37	chr1	158622391	158622391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caataaaaattcattataacGttgcaatagacgacgtctgc	6	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:158622391G>A	uc001fst.1	-	23	3440	c.3241C>T	c.(3241-3243)CGT>TGT	p.R1081C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1081					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCATTATAACGTTGCAATAGA	0.428													A	158622391	G	A	158622391	3	1	27	1	0	0	0	0	1	0	0	0	15115	1145	40	1	4138	1	SPTA1	1	158622391	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1185	158622391	90628230	516	24467											
OR6K3	391114	broad.mit.edu	37	chr1	158687118	158687118	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaactggtggataagtgTcgctgaaacgcaagtacatg	11	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:158687118T>C	uc010pip.1	-	1	836	c.836A>G	c.(835-837)GAC>GGC	p.D279G		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	279	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					TGGATAAGTGTCGCTGAAACG	0.453													C	158687118	T	C	158687118	3	2	27	1	0	0	0	0	1	0	0	0	11203	1667	58	3	161	3	OR6K3	1	158687118	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	64727	158687118	90563503	517	24468											
OR6K3	391114	broad.mit.edu	37	chr1	158687335	158687335	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aatcagaatcatggacgtgtCtgtacaggccaggcttagca	11	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:158687335C>G	uc010pip.1	-	1	619	c.619G>C	c.(619-621)GAC>CAC	p.D207H		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	207	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					ATGGACGTGTCTGTACAGGCC	0.463													G	158687335	C	G	158687335	3	3	27	1	0	0	0	0	1	0	0	0	11203	913	32	5	378	5	OR6K3	1	158687335	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	217	158687335	90563286	518	24469											
OR6K3	391114	broad.mit.edu	37	chr1	158687490	158687490	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagagagttgagcacagagcCggggggtcatgatcatttga	15	7	2	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:158687490C>A	uc010pip.1	-	1	464	c.464G>T	c.(463-465)CGG>CTG	p.R155L		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	155	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					AGCACAGAGCCGGGGGGTCAT	0.517													A	158687490	C	A	158687490	3	1	27	1	0	0	0	0	1	0	0	0	11203	652	23	5	533	5	OR6K3	1	158687490	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	155	158687490	90563131	519	24470											
IFI16	3428	broad.mit.edu	37	chr1	158986335	158986335	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actttcagaaaagaaaaaaaTcaaccaaagaaaaggctgga	7	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:158986335T>C	uc001ftf.1	+	5	1001	c.394T>C	c.(394-396)TCA>CCA	p.S132P	IFI16_uc001ftg.2_Missense_Mutation_p.S132P|IFI16_uc010pis.1_Intron	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	132	Lys-rich.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)					AAGAAAAAAATCAACCAAAGA	0.438													C	158986335	T	C	158986335	3	2	27	1	0	0	0	0	1	0	0	0	7511	1435	50	3	404	3	IFI16	1	158986335	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	298845	158986335	90264286	520	24471											
CRP	1401	broad.mit.edu	37	chr1	159683503	159683503	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggactggcttccttcaaagtTcccaccgaaggaatcctgct	9	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:159683503T>A	uc001ftw.2	-	2	591	c.487A>T	c.(487-489)AAC>TAC	p.N163Y	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_RNA	NM_000567	NP_000558	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related precursor	163	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CCTTCAAAGTTCCCACCGAAG	0.522													A	159683503	T	A	159683503	3	1	27	1	0	0	0	0	1	0	0	0	3895	1783	62	5	191	5	CRP	1	159683503	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	697168	159683503	89567118	521	24472											
FCRL6	343413	broad.mit.edu	37	chr1	159778831	159778831	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaccctgagatgtcagAcaaagctgcaccccctgagg	12	12	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:159778831A>G	uc001fud.3	+	4	442	c.400A>G	c.(400-402)ACA>GCA	p.T134A	FCRL6_uc010pix.1_3'UTR|FCRL6_uc001fuc.2_Missense_Mutation_p.T141A|FCRL6_uc009wsz.1_Intron|FCRL6_uc009wta.2_Missense_Mutation_p.T134A	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6 precursor	134	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.0597)					GAGATGTCAGACAAAGCTGCA	0.612													G	159778831	A	G	159778831	3	3	27	1	0	0	0	0	1	0	0	0	5799	275	10	3	414	3	FCRL6	1	159778831	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	95328	159778831	89471790	522	24473											
IGSF9	57549	broad.mit.edu	37	chr1	159901373	159901373	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgtccacctgggcctgGccttgcagcccccggcccac	11	19	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:159901373G>T	uc001fur.2	-	12	1581	c.1383C>A	c.(1381-1383)GGC>GGA	p.G461G	IGSF9_uc001fuq.2_Silent_p.G445G|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	461	Ig-like 5.|Extracellular (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTGGGCCTGGCCTTGCAGCC	0.657													T	159901373	G	T	159901373	2	4	27	1	0	0	0	0	0	0	0	1	7605	1190	42	5		5	IGSF9	1	159901373	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	122542	159901373	89349248	523	24474											
SLAMF9	89886	broad.mit.edu	37	chr1	159923322	159923322	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggcaagacttttgtgagaGgaccagatgatgttctcaac	12	7	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:159923322G>T	uc001fus.2	-	2	285	c.168C>A	c.(166-168)TCC>TCA	p.S56S	SLAMF9_uc009wtd.2_Silent_p.S56S|SLAMF9_uc001fut.2_Silent_p.S56S	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	SLAM family member 9 isoform 1	56	Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTTTGTGAGAGGACCAGATGA	0.542													T	159923322	G	T	159923322	2	4	27	1	0	0	0	0	0	0	0	1	14371	987	35	5		5	SLAMF9	1	159923322	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	21949	159923322	89327299	524	24475											
PIGM	93183	broad.mit.edu	37	chr1	160001086	160001086	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaccagggaggcgacaatAgagtccgcattaccgcggct	14	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:160001086A>G	uc001fuv.1	-	1	698	c.444T>C	c.(442-444)TCT>TCC	p.S148S		NM_145167	NP_660150	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	148	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGCGACAATAGAGTCCGCAT	0.537													G	160001086	A	G	160001086	2	3	27	1	0	0	0	0	0	0	0	1	11892	407	15	3		3	PIGM	1	160001086	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	77764	160001086	89249535	525	24476											
KCNJ10	3766	broad.mit.edu	37	chr1	160012208	160012208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaatgtgctccattctcaCgttgctgcgaccatcttttg	9	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:160012208C>T	uc001fuw.1	-	2	265	c.115G>A	c.(115-117)GTG>ATG	p.V39M		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	39	Cytoplasmic (By similarity).					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCATTCTCACGTTGCTGCGA	0.542													T	160012208	C	T	160012208	3	4	27	1	0	0	0	0	1	0	0	0	8044	536	19	1	1028	1	KCNJ10	1	160012208	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	11122	160012208	89238413	526	24477											
ATP1A2	477	broad.mit.edu	37	chr1	160097375	160097375	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgtgattgccacaggagAccggacggtgatgggccgca	15	10	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:160097375A>G	uc001fvc.2	+	8	914	c.782A>G	c.(781-783)GAC>GGC	p.D261G	ATP1A2_uc001fvb.2_Missense_Mutation_p.D261G|ATP1A2_uc010piz.1_Missense_Mutation_p.D106G|ATP1A2_uc001fvd.2_5'UTR|ATP1A2_uc009wtg.1_5'Flank	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	261	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCACAGGAGACCGGACGGTG	0.582													G	160097375	A	G	160097375	3	3	27	1	0	0	0	0	1	0	0	0	1129	275	10	3	812	3	ATP1A2	1	160097375	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	85167	160097375	89153246	527	24478											
ATP1A2	477	broad.mit.edu	37	chr1	160098618	160098618	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaaccaaatccatgaggcTgacaccaccgaagatcagtc	8	13	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:160098618T>C	uc001fvc.2	+	9	1326	c.1194T>C	c.(1192-1194)GCT>GCC	p.A398A	ATP1A2_uc001fvb.2_Silent_p.A398A|ATP1A2_uc010piz.1_Silent_p.A243A|ATP1A2_uc001fvd.2_Silent_p.A134A|ATP1A2_uc009wtg.1_Silent_p.A86A	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	398	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCATGAGGCTGACACCACCG	0.597													C	160098618	T	C	160098618	2	2	27	1	0	0	0	0	0	0	0	1	1129	1567	55	3		3	ATP1A2	1	160098618	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1243	160098618	89152003	528	24479											
ATP1A2	477	broad.mit.edu	37	chr1	160099949	160099949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgctggtgatgaaggggGccccagagcgcattctggac	16	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:160099949G>A	uc001fvc.2	+	12	1651	c.1519G>A	c.(1519-1521)GCC>ACC	p.A507T	ATP1A2_uc001fvb.2_Missense_Mutation_p.A507T|ATP1A2_uc001fvd.2_Missense_Mutation_p.A243T|ATP1A2_uc009wtg.1_Missense_Mutation_p.A195T	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	507	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GATGAAGGGGGCCCCAGAGCG	0.567													A	160099949	G	A	160099949	3	1	27	1	0	0	0	0	1	0	0	0	1129	1203	42	2	1565	2	ATP1A2	1	160099949	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1331	160099949	89150672	529	24480											
CASQ1	844	broad.mit.edu	37	chr1	160164845	160164845	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgaaggtgaacgagagcTgcaggcgtttgagaatattg	15	4	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:160164845T>C	uc010pja.1	+	4	766	c.509T>C	c.(508-510)CTG>CCG	p.L170P		NM_001231	NP_001222	P31415	CASQ1_HUMAN	calsequestrin 1	170						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			central_nervous_system(1)	1	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAACGAGAGCTGCAGGCGTTT	0.483													C	160164845	T	C	160164845	3	2	27	1	0	0	0	0	1	0	0	0	2680	1580	55	3	523	3	CASQ1	1	160164845	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	64896	160164845	89085776	530	24481											
DCAF8	50717	broad.mit.edu	37	chr1	160187442	160187442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtccgatgtgtctgaggaGctgggagactcatcagagtc	14	9	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:160187442G>A	uc001fvo.2	-	14	2046	c.1734C>T	c.(1732-1734)AGC>AGT	p.S578S	DCAF8_uc001fvn.2_Silent_p.S578S|DCAF8_uc009wth.2_Silent_p.S578S|DCAF8_uc010pjb.1_Silent_p.S578S|DCAF8_uc010pjc.1_Silent_p.S732S	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	578						CUL4 RING ubiquitin ligase complex	protein binding			skin(2)	2						TGTCTGAGGAGCTGGGAGACT	0.612													A	160187442	G	A	160187442	2	1	27	1	0	0	0	0	0	0	0	1	4276	962	34	2		2	DCAF8	1	160187442	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	22597	160187442	89063179	531	24482											
COPA	1314	broad.mit.edu	37	chr1	160261161	160261161	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgggcccgagttctagTaggcgccgagcaaaggtggc	17	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:160261161T>C	uc009wti.2	-	31	3778	c.3384A>G	c.(3382-3384)CTA>CTG	p.L1128L	COPA_uc001fvv.3_Silent_p.L1137L	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	1128					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGAGTTCTAGTAGGCGCCGAG	0.552											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	160261161	T	C	160261161	2	2	27	1	0	0	0	0	0	0	0	1	3727	1625	57	3		3	COPA	1	160261161	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	73719	160261161	88989460	532	24483											
COPA	1314	broad.mit.edu	37	chr1	160264607	160264607	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccagccctctgtaccaacAgtgtcaatgtcaatgtcagc	7	15	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:160264607A>G	uc009wti.2	-	24	2911	c.2517T>C	c.(2515-2517)ACT>ACC	p.T839T	COPA_uc001fvv.3_Silent_p.T848T	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	839					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGTACCAACAGTGTCAATGT	0.512													G	160264607	A	G	160264607	2	3	27	1	0	0	0	0	0	0	0	1	3727	175	7	3		3	COPA	1	160264607	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3446	160264607	88986014	533	24484											
COPA	1314	broad.mit.edu	37	chr1	160268779	160268779	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcattcctcaccatgtgcagTacctagacatttggggtgga	11	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:160268779T>C	uc009wti.2	-	19	2227	c.1833A>G	c.(1831-1833)GTA>GTG	p.V611V	COPA_uc001fvv.3_Silent_p.V620V	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	611					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCATGTGCAGTACCTAGACAT	0.433													C	160268779	T	C	160268779	2	2	27	1	0	0	0	0	0	0	0	1	3727	1625	57	3		3	COPA	1	160268779	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4172	160268779	88981842	534	24485											
NCSTN	23385	broad.mit.edu	37	chr1	160322757	160322757	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgcagttagagaatgtTgactcatttgtggagctggg	14	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:160322757T>C	uc001fvx.2	+	9	1201	c.1077T>C	c.(1075-1077)GTT>GTC	p.V359V	NCSTN_uc001fvy.2_Silent_p.V339V|NCSTN_uc010pjf.1_Silent_p.V221V|NCSTN_uc001fvz.2_Silent_p.V139V|NCSTN_uc010pjg.1_Silent_p.V101V	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	359	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TAGAGAATGTTGACTCATTTG	0.478													C	160322757	T	C	160322757	2	2	27	1	0	0	0	0	0	0	0	1	10241	1799	63	3		3	NCSTN	1	160322757	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	53978	160322757	88927864	535	24486											
SLAMF1	6504	broad.mit.edu	37	chr1	160607140	160607140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagataacgtggagggcctgCttcggatggatcaagagaca	14	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:160607140C>T	uc001fwl.3	-	2	602	c.256G>A	c.(256-258)GCA>ACA	p.A86T	SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA|SLAMF1_uc001fwm.2_Missense_Mutation_p.A86T	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family	86	Extracellular (Potential).				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGAGGGCCTGCTTCGGATGGA	0.463													T	160607140	C	T	160607140	3	4	27	1	0	0	0	0	1	0	0	0	14367	797	28	2	775	2	SLAMF1	1	160607140	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	284383	160607140	88643481	536	24487											
CD48	962	broad.mit.edu	37	chr1	160654897	160654897	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtataaaaccaggttagTtgtttgtagttctcaggcag	10	5	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:160654897T>C	uc001fwn.2	-	2	197	c.165A>G	c.(163-165)CAA>CAG	p.Q55Q	CD48_uc001fwo.1_Silent_p.Q55Q|CD48_uc001fwp.2_Silent_p.Q55Q	NM_001778	NP_001769	P09326	CD48_HUMAN	CD48 molecule precursor	55	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding				0	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACCAGGTTAGTTGTTTGTAGT	0.433													C	160654897	T	C	160654897	2	2	27	1	0	0	0	0	0	0	0	1	3020	1722	60	3		3	CD48	1	160654897	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	47757	160654897	88595724	537	24488											
SLAMF7	57823	broad.mit.edu	37	chr1	160718142	160718142	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaagggggcactatcataGtgacccaaaatcgtaatagg	11	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:160718142G>T	uc001fwq.2	+	2	229	c.214G>T	c.(214-216)GTG>TTG	p.V72L	SLAMF7_uc010pjn.1_Intron|SLAMF7_uc001fws.2_Intron|SLAMF7_uc001fwr.2_Missense_Mutation_p.V72L|SLAMF7_uc010pjo.1_Missense_Mutation_p.V72L|SLAMF7_uc010pjp.1_Intron|SLAMF7_uc010pjq.1_Missense_Mutation_p.V72L|SLAMF7_uc010pjr.1_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	72	Extracellular (Potential).				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			skin(2)|ovary(1)	3	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CACTATCATAGTGACCCAAAA	0.468													T	160718142	G	T	160718142	3	4	27	1	0	0	0	0	1	0	0	0	14369	1029	36	5	220	5	SLAMF7	1	160718142	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	63245	160718142	88532479	538	24489											
ITLN1	55600	broad.mit.edu	37	chr1	160850383	160850383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattaaagactcacgctggCcatagggtgagtaataagat	10	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:160850383C>T	uc001fxc.2	-	6	796	c.680G>A	c.(679-681)GGC>GAC	p.G227D		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	intelectin precursor	227	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)	7	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTCACGCTGGCCATAGGGTGA	0.468													T	160850383	C	T	160850383	3	4	27	1	0	0	0	0	1	0	0	0	7910	739	26	2	273	2	ITLN1	1	160850383	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	132241	160850383	88400238	539	24490											
USF1	7391	broad.mit.edu	37	chr1	161009746	161009746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgacgacctctaatccGtggtgccgcaactgagctcg	11	12	1	3	rs146372368		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:161009746G>A	uc001fxi.2	-	11	1092	c.897C>T	c.(895-897)CAC>CAT	p.H299H	F11R_uc010pjw.1_5'Flank|F11R_uc001fxf.3_5'Flank|TSTD1_uc010pjx.1_5'Flank|TSTD1_uc009wtw.2_5'Flank|TSTD1_uc001fxh.3_5'Flank|USF1_uc001fxj.2_Silent_p.H240H	NM_007122	NP_009053	P22415	USF1_HUMAN	upstream stimulatory factor 1 isoform 1	299					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCTCTAATCCGTGGTGCCGCA	0.502													A	161009746	G	A	161009746	2	1	27	1	0	0	0	0	0	0	0	1	17029	1136	40	1		1	USF1	1	161009746	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	159363	161009746	88240875	540	24491											
ARHGAP30	257106	broad.mit.edu	37	chr1	161039361	161039361	+	Frame_Shift_Del	DEL	A	A	-													tgctcctgcaagtcgcacccAaaaacccgctcctttgcgct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:161039360_161039360CA>C	uc001fxl.3	-	0	401	c.55_55TG>G	c.(55-57)gggfs	p.G19fs	ARHGAP30_uc001fxk.3_Frame_Shift_Del_p.G19fs|ARHGAP30_uc001fxm.3_5'UTR|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_5'UTR	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	19					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AAGTCGCACCCAAAAACCCGC	0.632													-	161039361	A	-	161039361	7	5	27	1	0	1	0	1	0	0	0	0	879	127	5	0	3299	0	ARHGAP30	1	161039361	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	29615	161039361	88211260	541	24492											
PPOX	5498	broad.mit.edu	37	chr1	161137170	161137170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagagcaggtttctgagCttggcttggattcagaagtg	16	5	2	3	rs78028107		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:161137170C>T	uc001fyj.2	+	4	522	c.232C>T	c.(232-234)CTT>TTT	p.L78F	PPOX_uc001fyn.2_Intron|PPOX_uc001fyg.2_Missense_Mutation_p.L78F|PPOX_uc001fyl.2_Missense_Mutation_p.L44F|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_5'UTR|PPOX_uc001fyh.2_5'UTR|PPOX_uc010pkg.1_5'UTR|PPOX_uc009wuc.1_5'UTR|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_5'UTR	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	78					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			ovary(1)	1	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGTTTCTGAGCTTGGCTTGGA	0.562									Porphyria_Variegata				T	161137170	C	T	161137170	3	4	27	1	0	0	0	0	1	0	0	0	12348	797	28	2	242	2	PPOX	1	161137170	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	97809	161137170	88113451	542	24493											
NDUFS2	4720	broad.mit.edu	37	chr1	161179937	161179937	+	Frame_Shift_Del	DEL	T	T	-													ttatggatgacatttatcagTtttctaagaacttctctctt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:161179936_161179936GT>G	uc001fyv.3	+	7	1186	c.738_738GT>G	c.(736-738)cagfs	p.Q246fs	NDUFS2_uc010pki.2_Frame_Shift_Del_p.Q148fs|NDUFS2_uc001fyw.3_Frame_Shift_Del_p.Q246fs|NDUFS2_uc010pkj.2_Frame_Shift_Del_p.Q195fs	NM_004550	NP_004541	O75306	NDUS2_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) (NDUFS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	246					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	ACATTTATCAGTTTTCTAAGA	0.468											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	161179937	T	-	161179937	7	5	27	1	0	1	0	1	0	0	0	0	10292	1725	60	0	765	0	NDUFS2	1	161179937	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	42767	161179937	88070684	543	24494											
NR1I3	9970	broad.mit.edu	37	chr1	161201198	161201198	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacagaaagtggtattgagTacgatgtgacagatttccac	11	6	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:161201198T>C	uc001fzx.2	-	6	818	c.615A>G	c.(613-615)GTA>GTG	p.V205V	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Silent_p.V205V|NR1I3_uc001fzg.2_Silent_p.V176V|NR1I3_uc001fzh.2_Silent_p.V176V|NR1I3_uc001fzi.2_Silent_p.V176V|NR1I3_uc001fzj.2_Silent_p.V176V|NR1I3_uc001fzk.2_Silent_p.V176V|NR1I3_uc001fzl.2_Silent_p.V176V|NR1I3_uc001fzm.2_Silent_p.V130V|NR1I3_uc001fzn.2_Silent_p.V38V|NR1I3_uc009wug.2_Silent_p.V38V|NR1I3_uc001fzp.2_Silent_p.V205V|NR1I3_uc001fzo.2_Silent_p.V38V|NR1I3_uc001fzq.2_Missense_Mutation_p.Y102C|NR1I3_uc001fzr.2_Missense_Mutation_p.Y102C|NR1I3_uc001fzs.2_Silent_p.V38V|NR1I3_uc001fzt.2_Silent_p.V38V|NR1I3_uc001fzu.2_Missense_Mutation_p.Y73C|NR1I3_uc001fzv.2_Missense_Mutation_p.Y73C|NR1I3_uc001fzw.2_Silent_p.V205V|NR1I3_uc001fzy.2_Silent_p.V205V|NR1I3_uc001fzz.2_Silent_p.V205V|NR1I3_uc001gaa.2_Silent_p.V205V|NR1I3_uc001gab.2_Silent_p.V205V|NR1I3_uc001gac.2_Silent_p.V176V|NR1I3_uc010pkm.1_Silent_p.V176V|NR1I3_uc010pkn.1_Silent_p.V205V	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2	205					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGGTATTGAGTACGATGTGAC	0.483													C	161201198	T	C	161201198	2	2	27	1	0	0	0	0	0	0	0	1	10621	1625	57	3		3	NR1I3	1	161201198	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	21261	161201198	88049423	544	24495											
NR1I3	9970	broad.mit.edu	37	chr1	161203072	161203072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcacaggtgtttgctgtgCccgccgctgggcctgctttg	14	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:161203072C>T	uc001fzx.2	-	4	498	c.295G>A	c.(295-297)GCA>ACA	p.A99T	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Missense_Mutation_p.A99T|NR1I3_uc001fzg.2_Missense_Mutation_p.A70T|NR1I3_uc001fzh.2_Missense_Mutation_p.A70T|NR1I3_uc001fzi.2_Missense_Mutation_p.A70T|NR1I3_uc001fzj.2_Missense_Mutation_p.A70T|NR1I3_uc001fzk.2_Missense_Mutation_p.A70T|NR1I3_uc001fzl.2_Missense_Mutation_p.A70T|NR1I3_uc001fzm.2_Missense_Mutation_p.A24T|NR1I3_uc001fzn.2_Intron|NR1I3_uc009wug.2_5'UTR|NR1I3_uc001fzp.2_Missense_Mutation_p.A99T|NR1I3_uc001fzo.2_Intron|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Missense_Mutation_p.A99T|NR1I3_uc001fzy.2_Missense_Mutation_p.A99T|NR1I3_uc001fzz.2_Missense_Mutation_p.A99T|NR1I3_uc001gaa.2_Missense_Mutation_p.A99T|NR1I3_uc001gab.2_Missense_Mutation_p.A99T|NR1I3_uc001gac.2_Missense_Mutation_p.A70T|NR1I3_uc010pkm.1_Missense_Mutation_p.A70T|NR1I3_uc010pkn.1_Missense_Mutation_p.A99T	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2	99					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GTTTGCTGTGCCCGCCGCTGG	0.582													T	161203072	C	T	161203072	3	4	27	1	0	0	0	0	1	0	0	0	10621	739	26	2	897	2	NR1I3	1	161203072	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1874	161203072	88047549	545	24496											
HSPA6	3310	broad.mit.edu	37	chr1	161495350	161495350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctacacgtccatcactcGtgcccgctttgaggaactgt	8	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:161495350G>A	uc001gap.2	+	2	1562	c.902G>A	c.(901-903)CGT>CAT	p.R301H	HSPA6_uc001gaq.2_Missense_Mutation_p.R301H	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	301					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCCATCACTCGTGCCCGCTTT	0.632													A	161495350	G	A	161495350	3	1	27	1	0	0	0	0	1	0	0	0	7415	1145	40	1	904	1	HSPA6	1	161495350	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	292278	161495350	87755271	546	24497											
HSPA6	3310	broad.mit.edu	37	chr1	161495882	161495882	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggagtcccccagatagaggtGacttttgacattgatgctaa	11	8	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:161495882G>A	uc001gap.2	+	2	2094	c.1434G>A	c.(1432-1434)GTG>GTA	p.V478V	HSPA6_uc001gaq.2_Silent_p.V478V	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	478					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGATAGAGGTGACTTTTGACA	0.552													A	161495882	G	A	161495882	2	1	27	1	0	0	0	0	0	0	0	1	7415	1277	45	4		4	HSPA6	1	161495882	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	532	161495882	87754739	547	24498											
FCGR3B	2215	broad.mit.edu	37	chr1	161599765	161599765	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcacttcagagtcacactgTccttctcaagcacgctgtac	8	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:161599765T>C	uc009wul.2	-	3	396	c.122A>G	c.(121-123)GAC>GGC	p.D41G		NM_000570	NP_000561	O75015	FCG3B_HUMAN	low affinity immunoglobulin gamma Fc region	41	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity				0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGTCACACTGTCCTTCTCAAG	0.542													C	161599765	T	C	161599765	3	2	27	1	0	0	0	0	1	0	0	0	5785	1667	58	3	591	3	FCGR3B	1	161599765	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	103883	161599765	87650856	548	24499											
FCRLB	127943	broad.mit.edu	37	chr1	161697222	161697222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcgccccgactgcggggCcacccgcctgcgctccgccg	15	21	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:161697222C>T	uc001gbh.2	+	8	1285	c.1051C>T	c.(1051-1053)CCA>TCA	p.P351S	FCRLB_uc009wus.2_Missense_Mutation_p.P351S|FCRLB_uc001gbj.2_Silent_p.G302G|FCRLB_uc001gbk.2_3'UTR|FCRLB_uc001gbl.2_Silent_p.G295G|FCRLB_uc001gbm.2_3'UTR|FCRLB_uc001gbi.2_Missense_Mutation_p.P351S|FCRLB_uc001gbn.3_3'UTR	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	351						endoplasmic reticulum					0	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GACTGCGGGGCCACCCGCCTG	0.682													T	161697222	C	T	161697222	3	4	27	1	0	0	0	0	1	0	0	0	5801	739	26	2	1073	2	FCRLB	1	161697222	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	97457	161697222	87553399	549	24500											
ATF6	22926	broad.mit.edu	37	chr1	161789480	161789480	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcgagaatccgcttgtcagTctcgcaagaagaagaaagaa	10	8	2	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:161789480T>A	uc001gbr.2	+	8	1034	c.967T>A	c.(967-969)TCT>ACT	p.S323T	ATF6_uc001gbq.1_Missense_Mutation_p.S323T	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	323	Basic motif.|Cytoplasmic (Potential).				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			CGCTTGTCAGTCTCGCAAGAA	0.383													A	161789480	T	A	161789480	3	1	27	1	0	0	0	0	1	0	0	0	1084	1667	58	5	997	5	ATF6	1	161789480	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	92258	161789480	87461141	550	24501											
OLFML2B	25903	broad.mit.edu	37	chr1	161954054	161954054	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtacgggagcttgtaggaaTtgctccagcgacctgcaggt	14	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:161954054T>A	uc001gbu.2	-	8	2088	c.1664A>T	c.(1663-1665)AAT>ATT	p.N555I	OLFML2B_uc001gbt.2_Missense_Mutation_p.N38I|OLFML2B_uc010pkq.1_Missense_Mutation_p.N556I	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	555	Olfactomedin-like.									skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CTTGTAGGAATTGCTCCAGCG	0.547													A	161954054	T	A	161954054	3	1	27	1	0	0	0	0	1	0	0	0	10858	1493	52	5	592	5	OLFML2B	1	161954054	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	164574	161954054	87296567	551	24502											
NOS1AP	9722	broad.mit.edu	37	chr1	162313640	162313640	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagagccaagctatgagaAtcgttcggacggtggggcag	15	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:162313640A>G	uc001gbv.2	+	6	856	c.469A>G	c.(469-471)ATC>GTC	p.I157V	NOS1AP_uc010pkr.1_Missense_Mutation_p.I152V|NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Missense_Mutation_p.I152V	NM_014697	NP_055512	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor	157	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			lung(2)|upper_aerodigestive_tract(1)	3	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGCTATGAGAATCGTTCGGAC	0.552													G	162313640	A	G	162313640	3	3	27	1	0	0	0	0	1	0	0	0	10542	101	4	3	491	3	NOS1AP	1	162313640	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	359586	162313640	86936981	552	24503											
UHMK1	127933	broad.mit.edu	37	chr1	162469877	162469877	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagggttgttccatgtggaTgatacagcattgtgcccgag	13	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:162469877T>C	uc001gcc.1	+	2	537	c.401T>C	c.(400-402)ATG>ACG	p.M134T	UHMK1_uc001gcb.1_Missense_Mutation_p.M60T|UHMK1_uc009wuu.1_Missense_Mutation_p.M134T	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	kinase interacting stathmin	134	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding				0	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCCATGTGGATGATACAGCAT	0.473													C	162469877	T	C	162469877	3	2	27	1	0	0	0	0	1	0	0	0	16963	1464	51	3	457	3	UHMK1	1	162469877	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	156237	162469877	86780744	553	24504											
DDR2	4921	broad.mit.edu	37	chr1	162748426	162748426	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggttactttgtgggagacTttcaccttttgtcaagaaca	11	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:162748426T>C	uc001gcf.2	+	18	2805	c.2340T>C	c.(2338-2340)ACT>ACC	p.T780T	DDR2_uc001gcg.2_Silent_p.T780T	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	780	Cytoplasmic (Potential).|Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			TGTGGGAGACTTTCACCTTTT	0.443													C	162748426	T	C	162748426	2	2	27	1	0	0	0	0	0	0	0	1	4337	1596	56	3		3	DDR2	1	162748426	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	278549	162748426	86502195	554	24505											
HSD17B7	51478	broad.mit.edu	37	chr1	162766377	162766377	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggtggtttacttgcaggtTtcagagattagactgtatat	11	4	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:162766377T>G	uc001gci.2	+	3	337	c.242T>G	c.(241-243)TTT>TGT	p.F81C	HSD17B7_uc009wuv.2_RNA	NM_016371	NP_057455	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	81	Extracellular (Potential).				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			ovary(1)	1	all_hematologic(112;0.115)				NADH(DB00157)	ACTTGCAGGTTTCAGAGATTA	0.373													G	162766377	T	G	162766377	3	3	27	1	0	0	0	0	1	0	0	0	7388	1841	64	5	252	5	HSD17B7	1	162766377	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	17951	162766377	86484244	555	24506											
RGS5	8490	broad.mit.edu	37	chr1	163117247	163117247	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgctcagggaaggttccAccaggttcttcattgtgatg	12	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:163117247A>C	uc001gcn.2	-	5	678	c.431T>G	c.(430-432)GTG>GGG	p.V144G	RGS5_uc009wvb.2_RNA	NM_003617	NP_003608	O15539	RGS5_HUMAN	regulator of G-protein signalling 5	144	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity				0			LUSC - Lung squamous cell carcinoma(543;0.187)			GGAAGGTTCCACCAGGTTCTT	0.458													C	163117247	A	C	163117247	3	2	27	1	0	0	0	0	1	0	0	0	13308	159	6	5	118	5	RGS5	1	163117247	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	350870	163117247	86133374	556	24507											
LMX1A	4009	broad.mit.edu	37	chr1	165173127	165173127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggaagactcaagatgtgAagtaagaattctgcatggag	14	4	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:165173127A>G	uc001gcy.1	-	8	1360	c.1139T>C	c.(1138-1140)TTC>TCC	p.F380S	LMX1A_uc001gcz.1_Missense_Mutation_p.F380S|LMX1A_uc001gcw.1_Missense_Mutation_p.F98S|LMX1A_uc001gcx.1_Missense_Mutation_p.F131S	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	380						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	all_hematologic(923;0.248)					TCAAGATGTGAAGTAAGAATT	0.502													G	165173127	A	G	165173127	3	3	27	1	0	0	0	0	1	0	0	0	8861	246	9	3	13	3	LMX1A	1	165173127	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2055880	165173127	84077494	557	24508											
POGK	57645	broad.mit.edu	37	chr1	166815880	166815881	+	Frame_Shift_Ins	INS	-	-	A													tttgatgaggtggccatataINStttttccgatgaggaatggg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:166815879_166815880T>TA	uc001gdt.1	+	2	283_284	c.163_164T>TA	c.(163-165)tatfs	p.Y55fs	POGK_uc010ple.1_Intron|POGK_uc010plf.1_Intron	NM_017542	NP_060012	Q9P215	POGK_HUMAN	Homo sapiens pogo transposable element with KRAB domain (POGK), mRNA.	55	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						GGTGGCCATATATTTTTCCGAT	0.475													A	166815881	-	A	166815880	7	5	27	1	0	1	1	0	0	0	0	0	12185	449	16	0	170	0	POGK	1	166815880	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	1642753	166815880	82434741	558	24509											
POGK	57645	broad.mit.edu	37	chr1	166818552	166818552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagcttcaaaacgcccacGccatgcggcgggcattccga	10	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:166818552G>A	uc001gdt.1	+	5	856	c.736G>A	c.(736-738)GCC>ACC	p.A246T	POGK_uc010ple.1_Missense_Mutation_p.A161T|POGK_uc010plf.1_Missense_Mutation_p.A128T	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	246					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						AAACGCCCACGCCATGCGGCG	0.557													A	166818552	G	A	166818552	3	1	27	1	0	0	0	0	1	0	0	0	12185	1087	38	1	750	1	POGK	1	166818552	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2672	166818552	82432069	559	24510											
POGK	57645	broad.mit.edu	37	chr1	166818591	166818591	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggccccaagaatgggaggTttgctctggtggaccagcgt	16	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:166818591T>C	uc001gdt.1	+	5	895	c.775T>C	c.(775-777)TTT>CTT	p.F259L	POGK_uc010ple.1_Missense_Mutation_p.F174L|POGK_uc010plf.1_Missense_Mutation_p.F141L	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	259	HTH CENPB-type.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						GAATGGGAGGTTTGCTCTGGT	0.562													C	166818591	T	C	166818591	3	2	27	1	0	0	0	0	1	0	0	0	12185	1725	60	3	789	3	POGK	1	166818591	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	39	166818591	82432030	560	24511											
ILDR2	387597	broad.mit.edu	37	chr1	166908749	166908749	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagagttaaatgaccgaatAcctggcataatctccacagc	7	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:166908749A>G	uc001gdx.1	-	4	612	c.556_splice	c.e4+1	p.E186_splice		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor							integral to membrane				ovary(1)	1						ATGACCGAATACCTGGCATAA	0.408													G	166908749	A	G	166908749	5	3	27	1	0	0	0	0	0	0	1	0	7710	405	14	3	1389	3	ILDR2	1	166908749	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	90158	166908749	82341872	561	24512											
MAEL	84944	broad.mit.edu	37	chr1	166962057	166962057	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaggtattatggcagatTtccacagttttataaatcct	7	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:166962057T>C	uc001gdy.1	+	4	531	c.460T>C	c.(460-462)TTC>CTC	p.F154L	MAEL_uc001gdz.1_Missense_Mutation_p.F123L|MAEL_uc009wvf.1_RNA	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	maelstrom homolog	154					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			skin(1)	1						TATGGCAGATTTCCACAGTTT	0.363													C	166962057	T	C	166962057	3	2	27	1	0	0	0	0	1	0	0	0	9154	1841	64	3	474	3	MAEL	1	166962057	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	53308	166962057	82288564	562	24513											
ADCY10	55811	broad.mit.edu	37	chr1	167844425	167844425	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcacgccataccaaacatgCtgaagagaagaacaaaagaa	9	9	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:167844425C>A	uc001ger.2	-	13	1705	c.1407_splice	c.e13-1	p.V469_splice	ADCY10_uc009wvk.2_Splice_Site_p.V377_splice|ADCY10_uc010plj.1_Splice_Site_p.V316_splice|ADCY10_uc009wvl.2_Splice_Site_p.V468_splice	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10						intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						ACCAAACATGCTGAAGAGAAG	0.368													A	167844425	C	A	167844425	5	1	27	1	0	0	0	0	0	0	1	0	293	811	28	5	3510	5	ADCY10	1	167844425	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	882368	167844425	81406196	563	24514											
TBX19	9095	broad.mit.edu	37	chr1	168250426	168250426	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaggcagggagggaaaAaggcgaccctacggagaagc	16	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:168250426A>C	uc001gfl.2	+	1	149	c.98A>C	c.(97-99)AAA>ACA	p.K33T	TBX19_uc001gfj.3_Intron	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	33					anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)					GGGAGGGAAAAAGGCGACCCT	0.522													C	168250426	A	C	168250426	3	2	27	1	0	0	0	0	1	0	0	0	15651	14	1	5	100	5	TBX19	1	168250426	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	406001	168250426	81000195	564	24515											
TBX19	9095	broad.mit.edu	37	chr1	168278029	168278029	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaagttttctcgggaccTgacagctggacttccttatc	9	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:168278029T>C	uc001gfl.2	+	7	1017	c.966T>C	c.(964-966)CCT>CCC	p.P322P	TBX19_uc001gfj.3_Silent_p.P190P|TBX19_uc001gfm.2_Silent_p.P25P	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	322					anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)					TCTCGGGACCTGACAGCTGGA	0.463													C	168278029	T	C	168278029	2	2	27	1	0	0	0	0	0	0	0	1	15651	1567	55	3		3	TBX19	1	168278029	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	27603	168278029	80972592	565	24516											
C1orf114	57821	broad.mit.edu	37	chr1	169366587	169366587	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcttcgtgctttttttTaagccataatcgaaaagctt	6	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:169366587T>A	uc001gga.1	-	5	1426	c.1258A>T	c.(1258-1260)AAA>TAA	p.K420*	C1orf114_uc001gfz.1_Nonsense_Mutation_p.K419*|C1orf114_uc009wvq.1_Nonsense_Mutation_p.K419*	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	hypothetical protein LOC57821	420											0	all_hematologic(923;0.208)					TGCTTTTTTTTAAGCCATAAT	0.363													A	169366587	T	A	169366587	4	1	27	1	0	0	0	0	0	1	0	0	1987	1763	61	5	279	5	C1orf114	1	169366587	Nonsense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1088558	169366587	79884034	566	24517											
SLC19A2	10560	broad.mit.edu	37	chr1	169435124	169435124	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaacttgattgtggatctTccagctttctacatttcttc	7	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:169435124T>C	uc001gge.3	-	6	1661	c.1457A>G	c.(1456-1458)GAA>GGA	p.E486G	SLC19A2_uc001ggf.3_Missense_Mutation_p.E285G	NM_006996	NP_008927	O60779	S19A2_HUMAN	solute carrier family 19, member 2	486	Cytoplasmic (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity				0	all_hematologic(923;0.208)					TTGTGGATCTTCCAGCTTTCT	0.423													C	169435124	T	C	169435124	3	2	27	1	0	0	0	0	1	0	0	0	14429	1783	62	3	40	3	SLC19A2	1	169435124	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	68537	169435124	79815497	567	24518											
F5	2153	broad.mit.edu	37	chr1	169510886	169510886	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actgagctctggagaagaggAtctgtgactggggtctgaag	16	6	3	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:169510886A>T	uc001ggg.1	-	13	3587	c.3442T>A	c.(3442-3444)TCC>ACC	p.S1148T		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1148	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGAGAAGAGGATCTGTGACTG	0.468													T	169510886	A	T	169510886	3	4	27	1	0	0	0	0	1	0	0	0	5348	333	12	5	3284	5	F5	1	169510886	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	75762	169510886	79739735	568	24519											
F5	2153	broad.mit.edu	37	chr1	169519212	169519212	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttccacttataagtataggTttcccctggttgaactgctc	8	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:169519212T>G	uc001ggg.1	-	10	1583	c.1438A>C	c.(1438-1440)ACC>CCC	p.T480P	F5_uc010plr.1_RNA	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	480	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TAAGTATAGGTTTCCCCTGGT	0.363													G	169519212	T	G	169519212	3	3	27	1	0	0	0	0	1	0	0	0	5348	1725	60	5	5300	5	F5	1	169519212	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	8326	169519212	79731409	569	24520											
SELE	6401	broad.mit.edu	37	chr1	169702011	169702011	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatggagtttaggtactcaaTctcttctttgttttgaattg	8	5	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:169702011T>C	uc001ggm.3	-	3	323	c.166A>G	c.(166-168)ATT>GTT	p.I56V	C1orf112_uc001ggj.2_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	selectin E precursor	56	Extracellular (Potential).|C-type lectin.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			ovary(3)|skin(2)	5	all_hematologic(923;0.208)					AGGTACTCAATCTCTTCTTTG	0.423													C	169702011	T	C	169702011	3	2	27	1	0	0	0	0	1	0	0	0	14013	1435	50	3	1710	3	SELE	1	169702011	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	182799	169702011	79548610	570	24521											
SCYL3	57147	broad.mit.edu	37	chr1	169847941	169847941	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcttagcaagcaagggTgacgaagtgtcttcaaatgc	10	7	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:169847941T>A	uc001ggs.2	-	3	383	c.185A>T	c.(184-186)CAC>CTC	p.H62L	SCYL3_uc001ggt.2_Missense_Mutation_p.H62L|SCYL3_uc001ggu.2_RNA	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	62	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAAGCAAGGGTGACGAAGTGT	0.413													A	169847941	T	A	169847941	3	1	27	1	0	0	0	0	1	0	0	0	13949	1696	59	5	2091	5	SCYL3	1	169847941	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	145930	169847941	79402680	571	24522											
KIFAP3	22920	broad.mit.edu	37	chr1	170003615	170003615	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaattttatagtgagtaaTaagtccatgaaattgagaaa	7	4	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:170003615T>C	uc001ggv.2	-	7	911	c.640A>G	c.(640-642)ATT>GTT	p.I214V	KIFAP3_uc010ply.1_Missense_Mutation_p.I136V|KIFAP3_uc001ggw.1_Missense_Mutation_p.I170V	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	214					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAGTGAGTAATAAGTCCATGA	0.294													C	170003615	T	C	170003615	3	2	27	1	0	0	0	0	1	0	0	0	8311	1406	49	3	1794	3	KIFAP3	1	170003615	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	155674	170003615	79247006	572	24523											
GORAB	92344	broad.mit.edu	37	chr1	170521257	170521257	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cactgaacacctttgtacgaTcatacagcaaaatgagctcc	6	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:170521257T>A	uc001gha.2	+	5	866	c.839T>A	c.(838-840)ATC>AAC	p.I280N	GORAB_uc009wvx.2_Missense_Mutation_p.I100N|GORAB_uc001ghb.2_Missense_Mutation_p.I100N|GORAB_uc001ghc.2_Missense_Mutation_p.I100N|GORAB_uc001ghd.2_Missense_Mutation_p.I73N	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting isoform a	280	Necessary for interaction with RCHY1.|Potential.					Golgi apparatus|nucleus					0						CTTTGTACGATCATACAGCAA	0.458													A	170521257	T	A	170521257	3	1	27	1	0	0	0	0	1	0	0	0	6574	1435	50	5	861	5	GORAB	1	170521257	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	517642	170521257	78729364	573	24524											
FMO1	2326	broad.mit.edu	37	chr1	171244546	171244546	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctggccaatgggaggtggTcactatgcatgaagagaagc	14	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:171244546T>C	uc009wvz.2	+	4	519	c.383T>C	c.(382-384)GTC>GCC	p.V128A	FMO1_uc010pme.1_Missense_Mutation_p.V65A|FMO1_uc001ghl.2_Missense_Mutation_p.V128A|FMO1_uc001ghm.2_Missense_Mutation_p.V128A|FMO1_uc001ghn.2_Missense_Mutation_p.V128A	NM_002021	NP_002012	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	128					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGGAGGTGGTCACTATGCAT	0.428													C	171244546	T	C	171244546	3	2	27	1	0	0	0	0	1	0	0	0	5954	1667	58	3	393	3	FMO1	1	171244546	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	723289	171244546	78006075	574	24525											
VAMP4	8674	broad.mit.edu	37	chr1	171707551	171707551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcgcttaaacttgggagGcatattttttacttgcaaag	11	6	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:171707551G>A	uc001ghx.1	-	2	218	c.4C>T	c.(4-6)CCT>TCT	p.P2S	VAMP4_uc001ghw.1_RNA|VAMP4_uc001ghy.1_Missense_Mutation_p.P2S	NM_003762	NP_003753	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	2	Cytoplasmic (Potential).				vesicle-mediated transport	endosome|Golgi membrane|integral to membrane|lysosome					0	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AACTTGGGAGGCATATTTTTT	0.338													A	171707551	G	A	171707551	3	1	27	1	0	0	0	0	1	0	0	0	17112	1203	42	2	449	2	VAMP4	1	171707551	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	463005	171707551	77543070	575	24526											
METTL13	51603	broad.mit.edu	37	chr1	171753044	171753044	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgaagatggacatgacGcagatggagtttcctgatgc	12	7	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:171753044G>A	uc001ghz.2	+	2	665	c.318G>A	c.(316-318)ACG>ACA	p.T106T	METTL13_uc001gia.2_Silent_p.T20T|METTL13_uc001gib.2_Silent_p.T106T|METTL13_uc010pml.1_Silent_p.T105T	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN	CGI-01 protein isoform 1	106							methyltransferase activity|protein binding			kidney(1)	1						TGGACATGACGCAGATGGAGT	0.502													A	171753044	G	A	171753044	2	1	27	1	0	0	0	0	0	0	0	1	9497	1074	38	1		1	METTL13	1	171753044	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	45493	171753044	77497577	576	24527											
METTL13	51603	broad.mit.edu	37	chr1	171753267	171753267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcccgggaggggtggatgGtgagggtgcaccaagtggcc	19	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:171753267G>A	uc001ghz.2	+	2	888	c.541G>A	c.(541-543)GTG>ATG	p.V181M	METTL13_uc001gia.2_Missense_Mutation_p.V95M|METTL13_uc001gib.2_Intron|METTL13_uc010pml.1_Missense_Mutation_p.V180M	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN	CGI-01 protein isoform 1	181							methyltransferase activity|protein binding			kidney(1)	1						GGGGTGGATGGTGAGGGTGCA	0.597													A	171753267	G	A	171753267	3	1	27	1	0	0	0	0	1	0	0	0	9497	1261	44	4	547	4	METTL13	1	171753267	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	223	171753267	77497354	577	24528											
METTL13	51603	broad.mit.edu	37	chr1	171761377	171761377	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaggaggaggagaaggTactgctcttggagcatttga	16	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:171761377T>C	uc001ghz.2	+	6	2040	c.1693_splice	c.e6+2	p.A565_splice	METTL13_uc001gia.2_Splice_Site_p.A479_splice|METTL13_uc001gib.2_Splice_Site_p.A409_splice|METTL13_uc010pml.1_Splice_Site_p.A564_splice|METTL13_uc001gic.1_5'Flank	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN	CGI-01 protein isoform 1								methyltransferase activity|protein binding			kidney(1)	1						GAGGAGAAGGTACTGCTCTTG	0.532													C	171761377	T	C	171761377	5	2	27	1	0	0	0	0	0	0	1	0	9497	1652	57	3	1717	3	METTL13	1	171761377	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	8110	171761377	77489244	578	24529											
DNM3	26052	broad.mit.edu	37	chr1	172357785	172357785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcaaggcccacatccggCcgaggaccagctcctgccat	10	18	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:172357785C>T	uc001gie.2	+	20	2534	c.2358C>T	c.(2356-2358)GGC>GGT	p.G786G	DNM3_uc001gif.2_Silent_p.G782G|DNM3_uc001gih.1_Silent_p.G142G	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	792					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1						CCACATCCGGCCGAGGACCAG	0.602													T	172357785	C	T	172357785	2	4	27	1	0	0	0	0	0	0	0	1	4673	726	26	2		2	DNM3	1	172357785	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	596408	172357785	76892836	579	24530											
PIGC	5279	broad.mit.edu	37	chr1	172411759	172411759	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttagtcacaggttgagcatAcattatcctttcattcaaac	6	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:172411759A>G	uc001gil.2	-	2	285	c.4T>C	c.(4-6)TAT>CAT	p.Y2H	PIGC_uc001gii.1_Intron|PIGC_uc001gij.1_Intron|C1orf105_uc001gik.2_Intron|PIGC_uc001gin.2_Missense_Mutation_p.Y2H|PIGC_uc001gio.2_Missense_Mutation_p.Y2H	NM_153747	NP_714969	Q92535	PIGC_HUMAN	phosphatidylinositol glycan, class C	2					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			lung(1)	1						GGTTGAGCATACATTATCCTT	0.463													G	172411759	A	G	172411759	3	3	27	1	0	0	0	0	1	0	0	0	11886	391	14	3	893	3	PIGC	1	172411759	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	53974	172411759	76838862	580	24531											
FASLG	356	broad.mit.edu	37	chr1	172635150	172635150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtttttcggcttatataaGctctaagagaagcactttgg	9	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:172635150G>A	uc001gis.2	+	4	997	c.840G>A	c.(838-840)AAG>AAA	p.K280K	FASLG_uc001git.2_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	fas ligand	280	Extracellular (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			lung(2)|breast(1)	3						GCTTATATAAGCTCTAAGAGA	0.393													A	172635150	G	A	172635150	2	1	27	1	0	0	0	0	0	0	0	1	5682	962	34	2		2	FASLG	1	172635150	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	223391	172635150	76615471	581	24532											
PRDX6	9588	broad.mit.edu	37	chr1	173456932	173456932	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaagaagccaaaaaactttTcccgaaaggagtcttcacca	7	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:173456932T>A	uc001giy.1	+	5	656	c.605T>A	c.(604-606)TTC>TAC	p.F202Y		NM_004905	NP_004896	P30041	PRDX6_HUMAN	peroxiredoxin 6	202					cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			central_nervous_system(1)	1						AAAAAACTTTTCCCGAAAGGA	0.463													A	173456932	T	A	173456932	3	1	27	1	0	0	0	0	1	0	0	0	12469	1783	62	5	623	5	PRDX6	1	173456932	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	821782	173456932	75793689	582	24533											
SLC9A11	284525	broad.mit.edu	37	chr1	173516834	173516834	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaacagcaccaaccatttgTattgcagctacatgcaatct	6	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:173516834T>C	uc001giz.2	-	13	1974	c.1551A>G	c.(1549-1551)ATA>ATG	p.I517M	SLC9A11_uc009wwe.2_Missense_Mutation_p.I75M|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	517					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						CAACCATTTGTATTGCAGCTA	0.358													C	173516834	T	C	173516834	3	2	27	1	0	0	0	0	1	0	0	0	14711	1628	57	3	1887	3	SLC9A11	1	173516834	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	59902	173516834	75733787	583	24534											
CENPL	91687	broad.mit.edu	37	chr1	173780280	173780280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaagcatacctgcaactgcGaacactggggaattttcctt	8	10	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:173780280G>A	uc001gje.3	-	2	372	c.158C>T	c.(157-159)TCG>TTG	p.S53L	CENPL_uc009wwg.2_5'UTR|CENPL_uc001gjg.3_Missense_Mutation_p.S53L|CENPL_uc001gjf.3_Missense_Mutation_p.S53L	NM_033319	NP_201576	Q8N0S6	CENPL_HUMAN	centromere protein L isoform 2	53					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus					0						CTGCAACTGCGAACACTGGGG	0.383													A	173780280	G	A	173780280	3	1	27	1	0	0	0	0	1	0	0	0	3236	1059	37	1	1034	1	CENPL	1	173780280	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	263446	173780280	75470341	584	24535											
RC3H1	149041	broad.mit.edu	37	chr1	173934070	173934070	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggtctgtccctcgcggaAtaagctgtgttactgtattc	12	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:173934070A>G	uc001gju.3	-	9	1610	c.1523T>C	c.(1522-1524)ATT>ACT	p.I508T	RC3H1_uc010pms.1_Missense_Mutation_p.I508T|RC3H1_uc001gjv.2_Missense_Mutation_p.I508T|RC3H1_uc010pmt.1_Missense_Mutation_p.I508T	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	508					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						CCCTCGCGGAATAAGCTGTGT	0.488													G	173934070	A	G	173934070	3	3	27	1	0	0	0	0	1	0	0	0	13166	101	4	3	1922	3	RC3H1	1	173934070	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	153790	173934070	75316551	585	24536											
RC3H1	149041	broad.mit.edu	37	chr1	173962014	173962014	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattcaggcacatcttgcagAcagtatggccacaacccaaa	7	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:173962014A>G	uc001gju.3	-	1	197	c.110T>C	c.(109-111)GTC>GCC	p.V37A	RC3H1_uc010pms.1_Missense_Mutation_p.V37A|RC3H1_uc001gjv.2_Missense_Mutation_p.V37A|RC3H1_uc010pmt.1_Missense_Mutation_p.V37A	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	37	RING-type; degenerate.				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						CATCTTGCAGACAGTATGGCC	0.488													G	173962014	A	G	173962014	3	3	27	1	0	0	0	0	1	0	0	0	13166	275	10	3	3367	3	RC3H1	1	173962014	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	27944	173962014	75288607	586	24537											
RABGAP1L	9910	broad.mit.edu	37	chr1	174221683	174221683	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaatagagaagaaggttgTgattacagtgcagcaacttt	12	4	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:174221683T>C	uc001gjx.2	+	7	1136	c.941T>C	c.(940-942)GTG>GCG	p.V314A	RABGAP1L_uc009wwq.1_Missense_Mutation_p.V326A|RABGAP1L_uc001gjw.2_Missense_Mutation_p.V277A|RABGAP1L_uc001gjy.2_5'UTR	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	314					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4						AAGAAGGTTGTGATTACAGTG	0.333													C	174221683	T	C	174221683	3	2	27	1	0	0	0	0	1	0	0	0	12965	1696	59	3	963	3	RABGAP1L	1	174221683	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	259669	174221683	75028938	587	24538											
GPR52	9293	broad.mit.edu	37	chr1	174417491	174417491	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tactaccagctatttcattcAgacgatggcatatgctgatc	7	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:174417491A>T	uc001gka.1	+	1	280	c.242A>T	c.(241-243)CAG>CTG	p.Q81L	RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	81	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1						TATTTCATTCAGACGATGGCA	0.428													T	174417491	A	T	174417491	3	4	27	1	0	0	0	0	1	0	0	0	6698	188	7	5	244	5	GPR52	1	174417491	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	195808	174417491	74833130	588	24539											
RABGAP1L	9910	broad.mit.edu	37	chr1	174671273	174671273	+	Missense_Mutation	SNP	G	G	A													acagctaccggacctgcataGccatttttctgatctgaacc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:174671273G>A	uc001gjx.2	+	17	2243	c.2048G>A	c.(2047-2049)AGC>AAC	p.S683N	RABGAP1L_uc001gkb.3_5'UTR|RABGAP1L_uc001gkc.3_5'UTR|RABGAP1L_uc001gkd.3_Missense_Mutation_p.S9N	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	683	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4						GACCTGCATAGCCATTTTTCT	0.448													A	174671273	G	A	174671273	3	1	27	1	0	0	0	0	1	0	0	0	12965	971	34	2	2110	2	RABGAP1L	1	174671273	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	253782	174671273	74579348	589	24540	78	2									
RABGAP1L	9910	broad.mit.edu	37	chr1	174671283	174671283	+	Silent	SNP	T	T	C													gacctgcatagccatttttcTgatctgaacctggaagctca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:174671283T>C	uc001gjx.2	+	17	2253	c.2058T>C	c.(2056-2058)TCT>TCC	p.S686S	RABGAP1L_uc001gkb.3_5'UTR|RABGAP1L_uc001gkc.3_5'UTR|RABGAP1L_uc001gkd.3_Silent_p.S12S	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	686	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4						GCCATTTTTCTGATCTGAACC	0.443													C	174671283	T	C	174671283	2	2	27	1	0	0	0	0	0	0	0	1	12965	1567	55	3		3	RABGAP1L	1	174671283	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	10	174671283	74579338	590	24541	78	2									
TNR	7143	broad.mit.edu	37	chr1	175335099	175335099	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tactctgccccaggctctagAtctgttagtgtgtatgaggt	11	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:175335099A>T	uc001gkp.1	-	9	2310	c.2229T>A	c.(2227-2229)GAT>GAA	p.D743E	TNR_uc009wwu.1_Missense_Mutation_p.D743E	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	743	Fibronectin type-III 5.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					CAGGCTCTAGATCTGTTAGTG	0.542													T	175335099	A	T	175335099	3	4	27	1	0	0	0	0	1	0	0	0	16335	330	12	5	1899	5	TNR	1	175335099	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	663816	175335099	73915522	591	24542											
TNR	7143	broad.mit.edu	37	chr1	175372423	175372423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcataaacaggtaccgttggCacatctccccttccccgaac	7	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:175372423C>T	uc001gkp.1	-	2	910	c.829G>A	c.(829-831)GCC>ACC	p.A277T	TNR_uc009wwu.1_Missense_Mutation_p.A277T|TNR_uc010pmz.1_Missense_Mutation_p.A277T	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	277	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					GTACCGTTGGCACATCTCCCC	0.622													T	175372423	C	T	175372423	3	4	27	1	0	0	0	0	1	0	0	0	16335	710	25	2	3327	2	TNR	1	175372423	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	37324	175372423	73878198	592	24543											
TNR	7143	broad.mit.edu	37	chr1	175372644	175372644	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagcaacccagcgggcagTagggctccgagcaattcttg	14	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:175372644T>C	uc001gkp.1	-	2	689	c.608A>G	c.(607-609)TAC>TGC	p.Y203C	TNR_uc009wwu.1_Missense_Mutation_p.Y203C|TNR_uc010pmz.1_Missense_Mutation_p.Y203C	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	203	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					CAGCGGGCAGTAGGGCTCCGA	0.592													C	175372644	T	C	175372644	3	2	27	1	0	0	0	0	1	0	0	0	16335	1638	57	3	3548	3	TNR	1	175372644	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	221	175372644	73877977	593	24544											
PAPPA2	60676	broad.mit.edu	37	chr1	176525547	176525547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgagctgggctggacacGcaagaaatccttggttgaga	13	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:176525547G>A	uc001gkz.2	+	2	1253	c.89G>A	c.(88-90)CGC>CAC	p.R30H	PAPPA2_uc001gky.1_Missense_Mutation_p.R30H|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	30					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						GGCTGGACACGCAAGAAATCC	0.532													A	176525547	G	A	176525547	3	1	27	1	0	0	0	0	1	0	0	0	11433	1087	38	1	91	1	PAPPA2	1	176525547	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1152903	176525547	72725074	594	24545											
PAPPA2	60676	broad.mit.edu	37	chr1	176679181	176679181	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaccttttgagagaaaaAccagcattgtagactgtggc	11	7	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:176679181A>C	uc001gkz.2	+	11	4684	c.3520A>C	c.(3520-3522)ACC>CCC	p.T1174P	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1174					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						TGAGAGAAAAACCAGCATTGT	0.443													C	176679181	A	C	176679181	3	2	27	1	0	0	0	0	1	0	0	0	11433	43	2	5	3611	5	PAPPA2	1	176679181	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	153634	176679181	72571440	595	24546											
PAPPA2	60676	broad.mit.edu	37	chr1	176679281	176679281	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agacaagaagaagtgtcctgTttccttggtaactggagaac	11	7	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:176679281T>A	uc001gkz.2	+	11	4784	c.3620T>A	c.(3619-3621)GTT>GAT	p.V1207D	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1207					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						AAGTGTCCTGTTTCCTTGGTA	0.468													A	176679281	T	A	176679281	3	1	27	1	0	0	0	0	1	0	0	0	11433	1725	60	5	3711	5	PAPPA2	1	176679281	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	100	176679281	72571340	596	24547											
ASTN1	460	broad.mit.edu	37	chr1	176838049	176838049	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catagtgctggttatagtggTagaggacccggtgtaaggtg	16	5	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:176838049T>C	uc001glc.2	-	22	3790	c.3578A>G	c.(3577-3579)TAC>TGC	p.Y1193C	ASTN1_uc001glb.1_Missense_Mutation_p.Y1193C|ASTN1_uc001gld.1_Missense_Mutation_p.Y1193C	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	1201					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						GTTATAGTGGTAGAGGACCCG	0.483													C	176838049	T	C	176838049	3	2	27	1	0	0	0	0	1	0	0	0	1064	1638	57	3	318	3	ASTN1	1	176838049	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	158768	176838049	72412572	597	24548											
ASTN1	460	broad.mit.edu	37	chr1	176853605	176853605	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagagtgctgctgggctcGtgaaccgtggagagtctcag	15	9	1	3	rs144434019		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:176853605G>A	uc001glc.2	-	19	3308	c.3096C>T	c.(3094-3096)CAC>CAT	p.H1032H	ASTN1_uc001glb.1_Silent_p.H1032H|ASTN1_uc001gld.1_Silent_p.H1032H	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	1040	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						TGCTGGGCTCGTGAACCGTGG	0.522													A	176853605	G	A	176853605	2	1	27	1	0	0	0	0	0	0	0	1	1064	1136	40	1		1	ASTN1	1	176853605	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	15556	176853605	72397016	598	24549											
FAM5B	57795	broad.mit.edu	37	chr1	177250429	177250429	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttaattctccagttggactAcccatatactcaaggttccc	5	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:177250429A>G	uc001glf.2	+	8	2429	c.2117A>G	c.(2116-2118)TAC>TGC	p.Y706C	FAM5B_uc001glg.2_Missense_Mutation_p.Y601C	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	706						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						CAGTTGGACTACCCATATACT	0.498													G	177250429	A	G	177250429	3	3	27	1	0	0	0	0	1	0	0	0	5593	391	14	3	2143	3	FAM5B	1	177250429	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	396824	177250429	72000192	599	24550											
RASAL2	9462	broad.mit.edu	37	chr1	178252710	178252710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatgcagatgtgaaaggaCcacccacccaccgtctgtct	8	15	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:178252710C>T	uc001glq.2	+	2	978	c.214C>T	c.(214-216)CCA>TCA	p.P72S	RASAL2_uc009wxb.2_Missense_Mutation_p.P72S	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 2	Error:Variant_position_missing_in_Q9UJF2_after_alignment					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						TGTGAAAGGACCACCCACCCA	0.428													T	178252710	C	T	178252710	3	4	27	1	0	0	0	0	1	0	0	0	13064	507	18	4	220	4	RASAL2	1	178252710	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1002281	178252710	70997911	600	24551											
C1orf49	84066	broad.mit.edu	37	chr1	178490396	178490396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctaaagaacaactacaatCggggtaggtagattcataca	8	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:178490396C>T	uc001glt.1	+	8	695	c.583C>T	c.(583-585)CGG>TGG	p.R195W	C1orf49_uc001glu.1_3'UTR|C1orf49_uc001glv.1_RNA|C1orf49_uc001glw.1_Missense_Mutation_p.R203W	NM_032126	NP_115502	Q5T0J7	CA049_HUMAN	hypothetical protein LOC84066	195						microtubule cytoskeleton					0						CAACTACAATCGGGGTAGGTA	0.498													T	178490396	C	T	178490396	3	4	27	1	0	0	0	0	1	0	0	0	2041	875	31	1	637	1	C1orf49	1	178490396	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	237686	178490396	70760225	601	24552											
C1orf125	126859	broad.mit.edu	37	chr1	179363085	179363085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattgctcggcagatgattgAtttctacaaagacttggtaa	10	6	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:179363085A>G	uc001gmo.2	+	10	1038	c.911A>G	c.(910-912)GAT>GGT	p.D304G	C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Missense_Mutation_p.D92G|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.D304G	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	304											0						CAGATGATTGATTTCTACAAA	0.318													G	179363085	A	G	179363085	3	3	27	1	0	0	0	0	1	0	0	0	1993	333	12	3	945	3	C1orf125	1	179363085	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	872689	179363085	69887536	602	24553											
CEP350	9857	broad.mit.edu	37	chr1	179983259	179983259	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacagaaccagaagtcatcAgcaccagtacatgctcctag	7	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:179983259A>G	uc001gnt.2	+	10	2054	c.1671A>G	c.(1669-1671)TCA>TCG	p.S557S	CEP350_uc009wxl.2_Silent_p.S556S|CEP350_uc001gnu.2_Silent_p.S391S	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	557						centrosome|nucleus|spindle				ovary(4)	4						AGAAGTCATCAGCACCAGTAC	0.433													G	179983259	A	G	179983259	2	3	27	1	0	0	0	0	0	0	0	1	3254	175	7	3		3	CEP350	1	179983259	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	620174	179983259	69267362	603	24554											
CEP350	9857	broad.mit.edu	37	chr1	180000515	180000515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaggaaaaagcagaacGtggctcccatcaaggaaaga	12	7	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:180000515G>A	uc001gnt.2	+	15	3994	c.3611G>A	c.(3610-3612)CGT>CAT	p.R1204H	CEP350_uc009wxl.2_Missense_Mutation_p.R1203H|CEP350_uc001gnu.2_Missense_Mutation_p.R1037H	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1204	Ser-rich.					centrosome|nucleus|spindle				ovary(4)	4						AAAGCAGAACGTGGCTCCCAT	0.383													A	180000515	G	A	180000515	3	1	27	1	0	0	0	0	1	0	0	0	3254	1145	40	1	3665	1	CEP350	1	180000515	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	17256	180000515	69250106	604	24555											
CEP350	9857	broad.mit.edu	37	chr1	180064877	180064877	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagtaacccaacaaccatgtGaaacattattggcagtcccc	7	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:180064877G>A	uc001gnt.2	+	35	9114	c.8731G>A	c.(8731-8733)GAA>AAA	p.E2911K	CEP350_uc009wxl.2_Missense_Mutation_p.E2910K|CEP350_uc001gnv.2_Missense_Mutation_p.E1046K|CEP350_uc001gnw.1_Missense_Mutation_p.E668K|CEP350_uc001gnx.1_Missense_Mutation_p.E668K	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	2911						centrosome|nucleus|spindle				ovary(4)	4						ACAACCATGTGAAACATTATT	0.398													A	180064877	G	A	180064877	3	1	27	1	0	0	0	0	1	0	0	0	3254	1291	45	4	8865	4	CEP350	1	180064877	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	64362	180064877	69185744	605	24556											
LHX4	89884	broad.mit.edu	37	chr1	180235620	180235620	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgtctaccacctgcactgCtttgcttgcatcatctgcaa	6	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:180235620C>A	uc001goe.1	+	3	565	c.342C>A	c.(340-342)TGC>TGA	p.C114*		NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	114	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						ACCTGCACTGCTTTGCTTGCA	0.612													A	180235620	C	A	180235620	4	1	27	1	0	0	0	0	0	1	0	0	8773	805	28	5	352	5	LHX4	1	180235620	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	170743	180235620	69015001	606	24557											
LHX4	89884	broad.mit.edu	37	chr1	180243369	180243369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaataggatttatggcaaCgtgggggacgttacaggcgg	15	7	0	0	rs139155359		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:180243369C>T	uc001goe.1	+	6	1051	c.828C>T	c.(826-828)AAC>AAT	p.N276N	uc001gof.1_Intron	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	276						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						TTTATGGCAACGTGGGGGACG	0.498													T	180243369	C	T	180243369	2	4	27	1	0	0	0	0	0	0	0	1	8773	535	19	1		1	LHX4	1	180243369	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	7749	180243369	69007252	607	24558											
LHX4	89884	broad.mit.edu	37	chr1	180243511	180243511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcgtccctgccatcccacGctcctttgctcaatgggctg	8	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:180243511G>A	uc001goe.1	+	6	1193	c.970G>A	c.(970-972)GCT>ACT	p.A324T	uc001gof.1_Intron	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	324						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						GCCATCCCACGCTCCTTTGCT	0.572													A	180243511	G	A	180243511	3	1	27	1	0	0	0	0	1	0	0	0	8773	1087	38	1	992	1	LHX4	1	180243511	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	142	180243511	69007110	608	24559											
ACBD6	84320	broad.mit.edu	37	chr1	180399357	180399357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaactaataactggcccaCcaaaacctgtatttgcttct	6	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:180399357C>T	uc001gog.2	-	4	1046	c.425G>A	c.(424-426)GGT>GAT	p.G142D		NM_032360	NP_115736	Q9BR61	ACBD6_HUMAN	acyl-coenzyme A binding domain containing 6	142						cytoplasm|nucleus	fatty-acyl-CoA binding			ovary(1)	1						AACTGGCCCACCAAAACCTGT	0.299													T	180399357	C	T	180399357	3	4	27	1	0	0	0	0	1	0	0	0	126	507	18	4	443	4	ACBD6	1	180399357	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	155846	180399357	68851264	609	24560											
STX6	10228	broad.mit.edu	37	chr1	180953816	180953816	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttaaacgccatacataccacTggtcatatgagatacttttg	6	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:180953816T>A	uc010pnq.1	-	7	925	c.688A>T	c.(688-690)AGT>TGT	p.S230C	STX6_uc001goo.2_Missense_Mutation_p.S230C|STX6_uc010pnr.1_Missense_Mutation_p.S129C	NM_005819	NP_005810	O43752	STX6_HUMAN	syntaxin 6	230	Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			ovary(1)	1						TACATACCACTGGTCATATGA	0.418													A	180953816	T	A	180953816	3	1	27	1	0	0	0	0	1	0	0	0	15348	1580	55	5	87	5	STX6	1	180953816	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	554459	180953816	68296805	610	24561											
MR1	3140	broad.mit.edu	37	chr1	181022773	181022773	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgtccttgtcattgtgctGgctggagttggtgttctagt	13	6	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:181022773G>T	uc001goq.1	+	5	950	c.945G>T	c.(943-945)CTG>CTT	p.L315L	MR1_uc001gor.1_Silent_p.L270L|MR1_uc001gos.1_Silent_p.L223L|MR1_uc010pns.1_Intron	NM_001531	NP_001522	Q95460	HMR1_HUMAN	major histocompatibility complex, class	315	Helical; (Potential).			L -> P (in Ref. 4; BAD96630).	antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			skin(1)	1						TCATTGTGCTGGCTGGAGTTG	0.498													T	181022773	G	T	181022773	2	4	27	1	0	0	0	0	0	0	0	1	9752	1335	47	5		5	MR1	1	181022773	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	68957	181022773	68227848	611	24562											
IER5	51278	broad.mit.edu	37	chr1	181059004	181059004	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatgaacccctggagcacAgccatcgtggccttctgagc	11	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:181059004A>G	uc001got.3	+	1	1367	c.966A>G	c.(964-966)ACA>ACG	p.T322T		NM_016545	NP_057629	Q5VY09	IER5_HUMAN	immediate early response 5	322										pancreas(1)	1						CCTGGAGCACAGCCATCGTGG	0.692													G	181059004	A	G	181059004	2	3	27	1	0	0	0	0	0	0	0	1	7508	175	7	3		3	IER5	1	181059004	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	36231	181059004	68191617	612	24563											
CACNA1E	777	broad.mit.edu	37	chr1	181764126	181764126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacctacaagtcccgtcgcCggagttaccactcctccttg	7	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:181764126C>T	uc001gow.2	+	45	6190	c.6025C>T	c.(6025-6027)CGG>TGG	p.R2009W	CACNA1E_uc009wxs.2_Missense_Mutation_p.R1897W|CACNA1E_uc009wxt.2_Missense_Mutation_p.R1278W	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	2052	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						GTCCCGTCGCCGGAGTTACCA	0.527													T	181764126	C	T	181764126	3	4	27	1	0	0	0	0	1	0	0	0	2542	643	23	1	6203	1	CACNA1E	1	181764126	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	705122	181764126	67486495	613	24564											
GLUL	2752	broad.mit.edu	37	chr1	182355457	182355457	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctgtccccatgagggtatActcctgctccatgccaaacc	7	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:182355457A>G	uc001gpa.1	-	4	621	c.409T>C	c.(409-411)TAT>CAT	p.Y137H	GLUL_uc010pnt.1_5'Flank|GLUL_uc001gpb.1_Missense_Mutation_p.Y137H|GLUL_uc001gpc.1_Missense_Mutation_p.Y137H|GLUL_uc001gpd.1_Missense_Mutation_p.Y137H	NM_001033056	NP_001028228	P15104	GLNA_HUMAN	glutamine synthetase	137					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding				0					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	ATGAGGGTATACTCCTGCTCC	0.522													G	182355457	A	G	182355457	3	3	27	1	0	0	0	0	1	0	0	0	6478	391	14	3	728	3	GLUL	1	182355457	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	591331	182355457	66895164	614	24565											
GLUL	2752	broad.mit.edu	37	chr1	182357869	182357869	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaacttgctgaggtggTcatggtggaaggtgttctgg	19	4	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:182357869T>G	uc001gpa.1	-	2	216	c.4A>C	c.(4-6)ACC>CCC	p.T2P	GLUL_uc001gpb.1_Missense_Mutation_p.T2P|GLUL_uc001gpc.1_Missense_Mutation_p.T2P|GLUL_uc001gpd.1_Missense_Mutation_p.T2P	NM_001033056	NP_001028228	P15104	GLNA_HUMAN	glutamine synthetase	2					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding				0					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	GCTGAGGTGGTCATGGTGGAA	0.463													G	182357869	T	G	182357869	3	3	27	1	0	0	0	0	1	0	0	0	6478	1667	58	5	1141	5	GLUL	1	182357869	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2412	182357869	66892752	615	24566											
RNASEL	6041	broad.mit.edu	37	chr1	182550471	182550471	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtcggattcatttcccacAttccgaagcgtcctatagcg	8	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:182550471A>G	uc001gpj.1	-	4	1961	c.1794T>C	c.(1792-1794)AAT>AAC	p.N598N	RNASEL_uc009wxz.1_Silent_p.N598N|RNASEL_uc001gpk.2_Silent_p.N598N	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L	598	KEN.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			ovary(4)|stomach(1)	5						CATTTCCCACATTCCGAAGCG	0.418									Hereditary_Prostate_Cancer				G	182550471	A	G	182550471	2	3	27	1	0	0	0	0	0	0	0	1	13416	214	8	3		3	RNASEL	1	182550471	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	192602	182550471	66700150	616	24567											
DHX9	1660	broad.mit.edu	37	chr1	182856359	182856359	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagcggaggctatggtggCagcgccaactcctttcgggc	16	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:182856359C>T	uc001gpr.2	+	28	3766	c.3603C>T	c.(3601-3603)GGC>GGT	p.G1201G	DHX9_uc001gps.2_Silent_p.G987G|DHX9_uc001gpt.2_Silent_p.G480G|DHX9_uc009wyd.2_Silent_p.G166G	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	1201	NTD.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2						GCTATGGTGGCAGCGCCAACT	0.547													T	182856359	C	T	182856359	2	4	27	1	0	0	0	0	0	0	0	1	4516	697	25	2		2	DHX9	1	182856359	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	305888	182856359	66394262	617	24568											
LAMC1	3915	broad.mit.edu	37	chr1	183086546	183086546	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatatcgccgtgatctcagaCagctactttcctcggtactt	8	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:183086546C>T	uc001gpy.3	+	9	1913	c.1656C>T	c.(1654-1656)GAC>GAT	p.D552D		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	552	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGATCTCAGACAGCTACTTTC	0.517													T	183086546	C	T	183086546	2	4	27	1	0	0	0	0	0	0	0	1	8614	477	17	4		4	LAMC1	1	183086546	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	230187	183086546	66164075	618	24569											
LAMC2	3918	broad.mit.edu	37	chr1	183196007	183196007	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggccttttggcacctgtaTtccttgtaactgtcaagggg	13	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:183196007T>C	uc001gqa.2	+	9	1555	c.1241T>C	c.(1240-1242)ATT>ACT	p.I414T	LAMC2_uc001gpz.3_Missense_Mutation_p.I414T|LAMC2_uc010poa.1_Missense_Mutation_p.I114T	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	414	Laminin EGF-like 4; second part.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						GGCACCTGTATTCCTTGTAAC	0.532													C	183196007	T	C	183196007	3	2	27	1	0	0	0	0	1	0	0	0	8615	1493	52	3	1275	3	LAMC2	1	183196007	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	109461	183196007	66054614	619	24570											
LAMC2	3918	broad.mit.edu	37	chr1	183208692	183208692	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaatctccagtgagatTgaacaggtaaagagaaatcg	11	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:183208692T>C	uc001gqa.2	+	20	3377	c.3063T>C	c.(3061-3063)ATT>ATC	p.I1021I	LAMC2_uc001gpz.3_Silent_p.I1021I|LAMC2_uc010poa.1_Silent_p.I721I	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	1021	Potential.|Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						CCAGTGAGATTGAACAGGTAA	0.517													C	183208692	T	C	183208692	2	2	27	1	0	0	0	0	0	0	0	1	8615	1800	63	3		3	LAMC2	1	183208692	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	12685	183208692	66041929	620	24571											
SMG7	9887	broad.mit.edu	37	chr1	183506324	183506324	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaatagtttccatccccAtgaagaggacctctcaagta	7	11	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:183506324A>C	uc001gqg.2	+	11	1330	c.1208A>C	c.(1207-1209)CAT>CCT	p.H403P	SMG7_uc010pob.1_Missense_Mutation_p.H432P|SMG7_uc001gqf.2_Missense_Mutation_p.H403P|SMG7_uc001gqh.2_Missense_Mutation_p.H403P|SMG7_uc001gqi.2_Missense_Mutation_p.H361P|SMG7_uc010poc.1_Missense_Mutation_p.H361P	NM_173156	NP_775179	Q92540	SMG7_HUMAN	SMG-7 homolog isoform 1	403					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TTCCATCCCCATGAAGAGGAC	0.393													C	183506324	A	C	183506324	3	2	27	1	0	0	0	0	1	0	0	0	14798	217	8	5	1250	5	SMG7	1	183506324	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	297632	183506324	65744297	621	24572											
SMG7	9887	broad.mit.edu	37	chr1	183514090	183514090	+	Frame_Shift_Del	DEL	C	C	-													ccgcccccaacatatgttatCcccccgcctgtggcattttc					rs77626632		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:183514089_183514089TC>T	uc001gqg.3	+	15	2262	c.2012_2012TC>T	c.(2011-2013)atcfs	p.I671fs	SMG7_uc010pob.2_Frame_Shift_Del_p.I654fs|SMG7_uc021pga.1_Frame_Shift_Del_p.I583fs|SMG7_uc001gqf.3_Frame_Shift_Del_p.I625fs|SMG7_uc001gqh.3_Frame_Shift_Del_p.I625fs|SMG7_uc010poc.2_Frame_Shift_Del_p.I629fs	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	671	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ACATATGTTATCCCCCCGCCT	0.438													-	183514090	C	-	183514090	7	5	27	1	0	1	0	1	0	0	0	0	14798	845	30	0	2075	0	SMG7	1	183514090	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	7766	183514090	65736531	622	24573											
NCF2	4688	broad.mit.edu	37	chr1	183543714	183543714	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcttcagcttttttccAttcctccttcttggcataca	4	13	3	0	rs137854516		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:183543714A>G	uc001gqj.3	-	4	684	c.409T>C	c.(409-411)TGG>CGG	p.W137R	NCF2_uc010pod.1_Intron|NCF2_uc010poe.1_Intron|NCF2_uc001gqk.3_Missense_Mutation_p.W137R	NM_000433	NP_000424	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	137	TPR 3.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			ovary(3)	3						GCTTTTTTCCATTCCTCCTTC	0.443													G	183543714	A	G	183543714	3	3	27	1	0	0	0	0	1	0	0	0	10217	217	8	3	1219	3	NCF2	1	183543714	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	29624	183543714	65706907	623	24574											
GLT25D2	23127	broad.mit.edu	37	chr1	183944246	183944246	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaccagaatgtagtctgaCcatttttccctcgcagttcg	7	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:183944246C>A	uc001gqr.2	-	3	849	c.477G>T	c.(475-477)TGG>TGT	p.W159C	GLT25D2_uc010poj.1_Missense_Mutation_p.W159C|GLT25D2_uc001gqs.2_Missense_Mutation_p.W39C	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	159					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						TGTAGTCTGACCATTTTTCCC	0.453													A	183944246	C	A	183944246	3	1	27	1	0	0	0	0	1	0	0	0	6467	508	18	5	1443	5	GLT25D2	1	183944246	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	400532	183944246	65306375	624	24575											
EDEM3	80267	broad.mit.edu	37	chr1	184663337	184663337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttctgattgttcttgaaGctggttatctaaatctgtac	8	6	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:184663337G>A	uc010pok.1	-	20	2920	c.2659C>T	c.(2659-2661)CTT>TTT	p.L887F	EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.L903F	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	887					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1						TGTTCTTGAAGCTGGTTATCT	0.398													A	184663337	G	A	184663337	3	1	27	1	0	0	0	0	1	0	0	0	4913	971	34	2	143	2	EDEM3	1	184663337	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	719091	184663337	64587284	625	24576											
FAM129A	116496	broad.mit.edu	37	chr1	184764990	184764990	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagagaaaggctttctccTttggccaacgagctagggac	14	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:184764990T>C	uc001gra.2	-	14	2102	c.1908A>G	c.(1906-1908)AAA>AAG	p.K636K	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	636					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4						GGCTTTCTCCTTTGGCCAACG	0.547													C	184764990	T	C	184764990	2	2	27	1	0	0	0	0	0	0	0	1	5436	1606	56	3		3	FAM129A	1	184764990	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	101653	184764990	64485631	626	24577											
FAM129A	116496	broad.mit.edu	37	chr1	184765096	184765096	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcctggcagaatggcagaaGctctcctggcagggctggcc	14	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:184765096G>T	uc001gra.2	-	14	1996	c.1802C>A	c.(1801-1803)GCT>GAT	p.A601D	FAM129A_uc001grb.1_Missense_Mutation_p.A364D	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	601					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4						AATGGCAGAAGCTCTCCTGGC	0.527													T	184765096	G	T	184765096	3	4	27	1	0	0	0	0	1	0	0	0	5436	971	34	5	988	5	FAM129A	1	184765096	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	106	184765096	64485525	627	24578											
C1orf25	81627	broad.mit.edu	37	chr1	185089303	185089303	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttaaaaggatagatttaaActgcatcagaggtgcatctg	9	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:185089303A>T	uc001grf.3	-	15	2322	c.2050T>A	c.(2050-2052)TTT>ATT	p.F684I	C1orf25_uc010pon.1_Missense_Mutation_p.F528I	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA	684						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0						ATAGATTTAAACTGCATCAGA	0.428													T	185089303	A	T	185089303	3	4	27	1	0	0	0	0	1	0	0	0	2034	43	2	5	155	5	C1orf25	1	185089303	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	324207	185089303	64161318	628	24579											
IVNS1ABP	10625	broad.mit.edu	37	chr1	185276772	185276772	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agctggtaacatccattctaGacagtaaataatcaccacaa	5	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:185276772G>T	uc001grl.2	-	6	1003	c.380C>A	c.(379-381)TCT>TAT	p.S127Y	IVNS1ABP_uc001grj.2_5'Flank|IVNS1ABP_uc009wyj.2_5'UTR|IVNS1ABP_uc009wyk.2_RNA	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	127					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				ovary(4)|central_nervous_system(1)	5						ATCCATTCTAGACAGTAAATA	0.348													T	185276772	G	T	185276772	3	4	27	1	0	0	0	0	1	0	0	0	7930	942	33	5	1588	5	IVNS1ABP	1	185276772	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	187469	185276772	63973849	629	24580											
HMCN1	83872	broad.mit.edu	37	chr1	185970779	185970779	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatgggaagatactgaagctCttcagagccactccagagga	11	9	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:185970779C>A	uc001grq.1	+	28	4483	c.4254C>A	c.(4252-4254)CTC>CTA	p.L1418L		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1418	Ig-like C2-type 11.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TACTGAAGCTCTTCAGAGCCA	0.398													A	185970779	C	A	185970779	2	1	27	1	0	0	0	0	0	0	0	1	7220	900	32	5		5	HMCN1	1	185970779	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	694007	185970779	63279842	630	24581											
HMCN1	83872	broad.mit.edu	37	chr1	186055437	186055437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcgtggtgaacaatttcAtctctttgacctgtgaggtc	10	10	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:186055437A>G	uc001grq.1	+	58	9173	c.8944A>G	c.(8944-8946)ATC>GTC	p.I2982V		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2982	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GAACAATTTCATCTCTTTGAC	0.408													G	186055437	A	G	186055437	3	3	27	1	0	0	0	0	1	0	0	0	7220	217	8	3	9174	3	HMCN1	1	186055437	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	84658	186055437	63195184	631	24582											
HMCN1	83872	broad.mit.edu	37	chr1	186114613	186114613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcagatgcggcggtaccGcacatgtgataaccctcctc	12	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:186114613G>A	uc001grq.1	+	92	14574	c.14345G>A	c.(14344-14346)CGC>CAC	p.R4782H	HMCN1_uc001grs.1_Missense_Mutation_p.R351H	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4782	TSP type-1 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CGGCGGTACCGCACATGTGAT	0.572													A	186114613	G	A	186114613	3	1	27	1	0	0	0	0	1	0	0	0	7220	1087	38	1	14711	1	HMCN1	1	186114613	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	59176	186114613	63136008	632	24583											
HMCN1	83872	broad.mit.edu	37	chr1	186121905	186121905	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatcttgcagatgagtcatAttgcccggggcttggattcc	11	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:186121905A>G	uc001grq.1	+	96	15149	c.14920A>G	c.(14920-14922)ATT>GTT	p.I4974V	HMCN1_uc001grs.1_Missense_Mutation_p.I543V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4974	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GATGAGTCATATTGCCCGGGG	0.423													G	186121905	A	G	186121905	3	3	27	1	0	0	0	0	1	0	0	0	7220	449	16	3	15302	3	HMCN1	1	186121905	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	7292	186121905	63128716	633	24584											
HMCN1	83872	broad.mit.edu	37	chr1	186147639	186147639	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtatctgtccaccaggacaAcatttattaggggacgggaa	11	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:186147639A>G	uc001grq.1	+	104	16264	c.16035A>G	c.(16033-16035)CAA>CAG	p.Q5345Q	HMCN1_uc001grs.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5345	EGF-like 6; calcium-binding (Potential).		Q -> R (in ARMD1).		response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CACCAGGACAACATTTATTAG	0.483													G	186147639	A	G	186147639	2	3	27	1	0	0	0	0	0	0	0	1	7220	40	2	3		3	HMCN1	1	186147639	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	25734	186147639	63102982	634	24585											
HMCN1	83872	broad.mit.edu	37	chr1	186147733	186147733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaccttgcacggttctccCctgtgagaaacaactatcaa	6	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:186147733C>T	uc001grq.1	+	104	16358	c.16129C>T	c.(16129-16131)CCT>TCT	p.P5377S	HMCN1_uc001grs.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5377					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ACGGTTCTCCCCTGTGAGAAA	0.453													T	186147733	C	T	186147733	3	4	27	1	0	0	0	0	1	0	0	0	7220	623	22	4	16543	4	HMCN1	1	186147733	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	94	186147733	63102888	635	24586											
HMCN1	83872	broad.mit.edu	37	chr1	186151335	186151335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatacagatgcctgccagCatgagtgtaagaataccttt	8	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:186151335C>T	uc001grq.1	+	105	16559	c.16330C>T	c.(16330-16332)CAT>TAT	p.H5444Y	HMCN1_uc001grs.1_Missense_Mutation_p.H896Y	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5444	EGF-like 7; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TGCCTGCCAGCATGAGTGTAA	0.428													T	186151335	C	T	186151335	3	4	27	1	0	0	0	0	1	0	0	0	7220	710	25	2	16748	2	HMCN1	1	186151335	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3602	186151335	63099286	636	24587											
HMCN1	83872	broad.mit.edu	37	chr1	186151406	186151406	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcaactcacacacaatggAaagacatgccaaggtgagaa	8	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:186151406A>C	uc001grq.1	+	105	16630	c.16401A>C	c.(16399-16401)GGA>GGC	p.G5467G	HMCN1_uc001grs.1_Silent_p.G919G	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5467	EGF-like 7; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CACACAATGGAAAGACATGCC	0.388													C	186151406	A	C	186151406	2	2	27	1	0	0	0	0	0	0	0	1	7220	233	9	5		5	HMCN1	1	186151406	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	71	186151406	63099215	637	24588											
HMCN1	83872	broad.mit.edu	37	chr1	186157083	186157083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcttcaacatgagaggaAgctaccagtgcatcgataca	10	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:186157083A>C	uc001grq.1	+	106	16712	c.16483A>C	c.(16483-16485)AGC>CGC	p.S5495R	HMCN1_uc001grs.1_Missense_Mutation_p.S947R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5495					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CATGAGAGGAAGCTACCAGTG	0.498													C	186157083	A	C	186157083	3	2	27	1	0	0	0	0	1	0	0	0	7220	72	3	5	16905	5	HMCN1	1	186157083	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	5677	186157083	63093538	638	24589											
TPR	7175	broad.mit.edu	37	chr1	186283791	186283791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttaaactgacgaccacggaCaccttgtctcaatgttgtct	8	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:186283791C>T	uc001grv.2	-	50	7303	c.7006G>A	c.(7006-7008)GTC>ATC	p.V2336I		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2336					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CGACCACGGACACCTTGTCTC	0.353			T	NTRK1	papillary thyroid								T	186283791	C	T	186283791	3	4	27	1	0	0	0	0	1	0	0	0	16413	478	17	4	93	4	TPR	1	186283791	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	126708	186283791	62966830	639	24590											
TPR	7175	broad.mit.edu	37	chr1	186287715	186287715	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccgaagcatcagaggtggTgctctcagtaaatacagtca	10	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:186287715T>C	uc001grv.2	-	48	6982	c.6685A>G	c.(6685-6687)ACC>GCC	p.T2229A		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2229					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCAGAGGTGGTGCTCTCAGTA	0.378			T	NTRK1	papillary thyroid								C	186287715	T	C	186287715	3	2	27	1	0	0	0	0	1	0	0	0	16413	1696	59	3	422	3	TPR	1	186287715	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3924	186287715	62962906	640	24591											
TPR	7175	broad.mit.edu	37	chr1	186291522	186291522	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacttggaactgttctgtctTcatcatcaaaaaaatgctgt	6	8	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:186291522T>G	uc001grv.2	-	45	6686	c.6389A>C	c.(6388-6390)GAA>GCA	p.E2130A		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2130					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGTTCTGTCTTCATCATCAAA	0.338			T	NTRK1	papillary thyroid								G	186291522	T	G	186291522	3	3	27	1	0	0	0	0	1	0	0	0	16413	1783	62	5	730	5	TPR	1	186291522	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3807	186291522	62959099	641	24592											
TPR	7175	broad.mit.edu	37	chr1	186292976	186292976	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacctcctgagaaaaagaagAttctgcagcacctgtatttc	7	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:186292976A>T	uc001grv.2	-	43	6436	c.6139T>A	c.(6139-6141)TCT>ACT	p.S2047T		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2047					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GAAAAAGAAGATTCTGCAGCA	0.438			T	NTRK1	papillary thyroid								T	186292976	A	T	186292976	3	4	27	1	0	0	0	0	1	0	0	0	16413	333	12	5	988	5	TPR	1	186292976	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1454	186292976	62957645	642	24593											
TPR	7175	broad.mit.edu	37	chr1	186302287	186302287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtggaagtagaaggccGctcaactggtgaactctgaa	13	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:186302287G>A	uc001grv.2	-	37	5719	c.5422C>T	c.(5422-5424)CGG>TGG	p.R1808W		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1808					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GTAGAAGGCCGCTCAACTGGT	0.393			T	NTRK1	papillary thyroid								A	186302287	G	A	186302287	3	1	27	1	0	0	0	0	1	0	0	0	16413	1086	38	1	1729	1	TPR	1	186302287	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	9311	186302287	62948334	643	24594											
TPR	7175	broad.mit.edu	37	chr1	186304584	186304584	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattgggactttagcgcagtAatgcgaacatccaattcatc	8	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:186304584A>G	uc001grv.2	-	34	5094	c.4797T>C	c.(4795-4797)ATT>ATC	p.I1599I		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1599	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTAGCGCAGTAATGCGAACAT	0.423			T	NTRK1	papillary thyroid								G	186304584	A	G	186304584	2	3	27	1	0	0	0	0	0	0	0	1	16413	358	13	3		3	TPR	1	186304584	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2297	186304584	62946037	644	24595											
TPR	7175	broad.mit.edu	37	chr1	186315342	186315342	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccttctctacttccatcaaCttcttttccaactgtgtctg	3	14	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:186315342C>A	uc001grv.2	-	23	3318	c.3021G>T	c.(3019-3021)AAG>AAT	p.K1007N		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1007	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTTCCATCAACTTCTTTTCCA	0.353			T	NTRK1	papillary thyroid								A	186315342	C	A	186315342	3	1	27	1	0	0	0	0	1	0	0	0	16413	564	20	5	4186	5	TPR	1	186315342	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	10758	186315342	62935279	645	24596											
TPR	7175	broad.mit.edu	37	chr1	186316487	186316487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgatattgttccacattGctcgtacttgttttgagtct	8	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:186316487G>A	uc001grv.2	-	22	3177	c.2880C>T	c.(2878-2880)AGC>AGT	p.S960S		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	960	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GTTCCACATTGCTCGTACTTG	0.378			T	NTRK1	papillary thyroid								A	186316487	G	A	186316487	2	1	27	1	0	0	0	0	0	0	0	1	16413	1310	46	2		2	TPR	1	186316487	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1145	186316487	62934134	646	24597											
C1orf27	54953	broad.mit.edu	37	chr1	186386684	186386684	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataccctttcagcttgtatgAgttcttctatgaatagtcaa	6	8	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:186386684A>G	uc001grw.2	+	14	1431	c.1195A>G	c.(1195-1197)AGT>GGT	p.S399G	C1orf27_uc010poq.1_Missense_Mutation_p.S376G|C1orf27_uc010por.1_Missense_Mutation_p.S367G	NM_017847	NP_060317	Q5SWX8	ODR4_HUMAN	odorant response abnormal 4 isoform 1	399						integral to membrane	oxidoreductase activity|zinc ion binding			ovary(1)	1						AGCTTGTATGAGTTCTTCTAT	0.284													G	186386684	A	G	186386684	3	3	27	1	0	0	0	0	1	0	0	0	2036	304	11	3	1241	3	C1orf27	1	186386684	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	70197	186386684	62863937	647	24598											
PLA2G4A	5321	broad.mit.edu	37	chr1	186919835	186919835	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaatgatagctcggacagTgatgatgaatcacacgaacc	10	8	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:186919835T>C	uc001gsc.2	+	13	1516	c.1311T>C	c.(1309-1311)AGT>AGC	p.S437S	PLA2G4A_uc010pos.1_Silent_p.S377S	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	437	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GCTCGGACAGTGATGATGAAT	0.373													C	186919835	T	C	186919835	2	2	27	1	0	0	0	0	0	0	0	1	12001	1693	59	3		3	PLA2G4A	1	186919835	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	533151	186919835	62330786	648	24599											
FAM5C	339479	broad.mit.edu	37	chr1	190067601	190067601	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaaaatgtcttccatttGttccccagagttaatgtcca	5	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:190067601G>A	uc001gse.1	-	8	2080	c.1848C>T	c.(1846-1848)AAC>AAT	p.N616N	FAM5C_uc010pot.1_Silent_p.N514N	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	616						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					TCTTCCATTTGTTCCCCAGAG	0.448													A	190067601	G	A	190067601	2	1	27	1	0	0	0	0	0	0	0	1	5594	1368	48	4		4	FAM5C	1	190067601	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3147766	190067601	59183020	649	24600											
FAM5C	339479	broad.mit.edu	37	chr1	190129803	190129803	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaatgtcttacctttgTcttggcaggctgatgagggg	12	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:190129803T>C	uc001gse.1	-	7	1411	c.1179A>G	c.(1177-1179)AGA>AGG	p.R393R	FAM5C_uc010pot.1_Silent_p.R291R	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	393						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					CTTACCTTTGTCTTGGCAGGC	0.363													C	190129803	T	C	190129803	2	2	27	1	0	0	0	0	0	0	0	1	5594	1664	58	3		3	FAM5C	1	190129803	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	62202	190129803	59120818	650	24601											
FAM5C	339479	broad.mit.edu	37	chr1	190130020	190130020	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcataaataacttgaattcaTctgaaaaatgtcaaaattca	3	6	5	2	rs112829253		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:190130020T>C	uc001gse.1	-	7	1194	c.962A>G	c.(961-963)GAT>GGT	p.D321G	FAM5C_uc010pot.1_Missense_Mutation_p.D219G	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	321						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					CTTGAATTCATCTGAAAAATG	0.274													C	190130020	T	C	190130020	3	2	27	1	0	0	0	0	1	0	0	0	5594	1449	50	3	1346	3	FAM5C	1	190130020	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	217	190130020	59120601	651	24602											
TROVE2	6738	broad.mit.edu	37	chr1	193038252	193038252	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccaattctcaggatggatAtgtatggcaagtcactgaca	10	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:193038252A>G	uc001gss.2	+	2	243	c.68A>G	c.(67-69)TAT>TGT	p.Y23C	TROVE2_uc001gst.1_Intron|TROVE2_uc001gsu.1_Intron|TROVE2_uc001gsv.1_Missense_Mutation_p.Y23C|TROVE2_uc001gsw.2_Missense_Mutation_p.Y23C|TROVE2_uc009wyp.2_Missense_Mutation_p.Y23C|TROVE2_uc009wyq.2_Missense_Mutation_p.Y23C|TROVE2_uc001gsx.1_Missense_Mutation_p.Y23C	NM_004600	NP_004591	P10155	RO60_HUMAN	TROVE domain family, member 2 isoform 2	23	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding				0						CAGGATGGATATGTATGGCAA	0.398													G	193038252	A	G	193038252	3	3	27	1	0	0	0	0	1	0	0	0	16573	449	16	3	70	3	TROVE2	1	193038252	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2908232	193038252	56212369	652	24603											
CDC73	79577	broad.mit.edu	37	chr1	193094253	193094253	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatttcaggactggaaaggAaggccaacccagagagtact	11	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:193094253A>G	uc001gtb.2	+	2	386	c.143A>G	c.(142-144)GAA>GGA	p.E48G		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	48					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.E48*(1)		parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						ACTGGAAAGGAAGGCCAACCC	0.333									Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome				G	193094253	A	G	193094253	3	3	27	1	0	0	0	0	1	0	0	0	3085	246	9	3	149	3	CDC73	1	193094253	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	56001	193094253	56156368	653	24604											
CFHR4	10877	broad.mit.edu	37	chr1	196883700	196883700	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttaagctccatgacacatTggactacgaatgctacgatg	9	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:196883700T>C	uc001gto.2	+	4	584	c.515T>C	c.(514-516)TTG>TCG	p.L172S	CFHR4_uc009wyy.2_Missense_Mutation_p.L418S|CFHR4_uc001gtp.2_Missense_Mutation_p.L419S	NM_006684	NP_006675	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	172	Sushi 3.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)|skin(1)	3						CATGACACATTGGACTACGAA	0.398													C	196883700	T	C	196883700	3	2	27	1	0	0	0	0	1	0	0	0	3287	1821	63	3	529	3	CFHR4	1	196883700	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3789447	196883700	52366921	654	24605											
ASPM	259266	broad.mit.edu	37	chr1	197071893	197071893	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctttcaaaattgtcaggTacttttcacgctgcatttta	6	9	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:197071893T>C	uc001gtu.2	-	18	6745	c.6488A>G	c.(6487-6489)TAC>TGC	p.Y2163C	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2163					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						AATTGTCAGGTACTTTTCACG	0.368													C	197071893	T	C	197071893	3	2	27	1	0	0	0	0	1	0	0	0	1056	1638	57	3	3989	3	ASPM	1	197071893	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	188193	197071893	52178728	655	24606											
ASPM	259266	broad.mit.edu	37	chr1	197093357	197093357	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttcttattaataagatcAtcagaatggcatgatagtag	7	4	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:197093357A>G	uc001gtu.2	-	13	3530	c.3273T>C	c.(3271-3273)GAT>GAC	p.D1091D	ASPM_uc001gtv.2_Silent_p.D1091D|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1091					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TAATAAGATCATCAGAATGGC	0.299													G	197093357	A	G	197093357	2	3	27	1	0	0	0	0	0	0	0	1	1056	214	8	3		3	ASPM	1	197093357	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	21464	197093357	52157264	656	24607											
ASPM	259266	broad.mit.edu	37	chr1	197094055	197094055	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagttttttctctgtgcctaTccacaatatccttagataga	6	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:197094055T>C	uc001gtu.2	-	12	3370	c.3113A>G	c.(3112-3114)GAT>GGT	p.D1038G	ASPM_uc001gtv.2_Missense_Mutation_p.D1038G|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1038	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TCTGTGCCTATCCACAATATC	0.308													C	197094055	T	C	197094055	3	2	27	1	0	0	0	0	1	0	0	0	1056	1435	50	3	7388	3	ASPM	1	197094055	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	698	197094055	52156566	657	24608											
ASPM	259266	broad.mit.edu	37	chr1	197097627	197097627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttatacgtacacaaggcGcactccacattgcaagtcta	6	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:197097627G>A	uc001gtu.2	-	10	3186	c.2929C>T	c.(2929-2931)CGC>TGC	p.R977C	ASPM_uc001gtv.2_Missense_Mutation_p.R977C|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	977	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TACACAAGGCGCACTCCACAT	0.348													A	197097627	G	A	197097627	3	1	27	1	0	0	0	0	1	0	0	0	1056	1087	38	1	7580	1	ASPM	1	197097627	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3572	197097627	52152994	658	24609											
ASPM	259266	broad.mit.edu	37	chr1	197099091	197099091	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtctatactcagctgcTatatcaggattccaaagtag	10	8	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:197099091T>C	uc001gtu.2	-	8	2840	c.2583A>G	c.(2581-2583)ATA>ATG	p.I861M	ASPM_uc001gtv.2_Missense_Mutation_p.I861M|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	861					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						ACTCAGCTGCTATATCAGGAT	0.328													C	197099091	T	C	197099091	3	2	27	1	0	0	0	0	1	0	0	0	1056	1512	53	3	7934	3	ASPM	1	197099091	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1464	197099091	52151530	659	24610											
ASPM	259266	broad.mit.edu	37	chr1	197111869	197111869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtttggttttctctggTacaggtggccttccttttag	10	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:197111869T>C	uc001gtu.2	-	3	1770	c.1513A>G	c.(1513-1515)ACC>GCC	p.T505A	ASPM_uc001gtv.2_Missense_Mutation_p.T505A|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	505					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TTTTCTCTGGTACAGGTGGCC	0.358													C	197111869	T	C	197111869	3	2	27	1	0	0	0	0	1	0	0	0	1056	1638	57	3	9024	3	ASPM	1	197111869	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	12778	197111869	52138752	660	24611											
CRB1	23418	broad.mit.edu	37	chr1	197390140	197390140	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttaacaggaatccactgCgaagaagacgtcaatgaatg	9	7	1	3	rs115352681	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:197390140C>T	uc001gtz.2	+	6	1317	c.1182C>T	c.(1180-1182)TGC>TGT	p.C394C	CRB1_uc010poz.1_Silent_p.C325C|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.C282C|CRB1_uc010ppb.1_Silent_p.C394C|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Silent_p.C43C	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	394	Extracellular (Potential).|EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						GAATCCACTGCGAAGAAGACG	0.343													T	197390140	C	T	197390140	2	4	27	1	0	0	0	0	0	0	0	1	3848	776	27	1		1	CRB1	1	197390140	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	278271	197390140	51860481	661	24612											
LHX9	56956	broad.mit.edu	37	chr1	197889141	197889141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagaagcccgccctgtgcGccggctgcgggggcaagatc	17	14	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:197889141G>A	uc001guk.1	+	2	651	c.214G>A	c.(214-216)GCC>ACC	p.A72T	LHX9_uc001gui.1_Missense_Mutation_p.A63T|LHX9_uc001guj.1_Missense_Mutation_p.A78T	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	72	LIM zinc-binding 1.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CGCCCTGTGCGCCGGCTGCGG	0.647													A	197889141	G	A	197889141	3	1	27	1	0	0	0	0	1	0	0	0	8777	1087	38	1	252	1	LHX9	1	197889141	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	499001	197889141	51361480	662	24613											
LHX9	56956	broad.mit.edu	37	chr1	197889164	197889164	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcgggggcaagatctcGgacaggtactatctgctggc	16	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:197889164G>A	uc001guk.1	+	2	674	c.237G>A	c.(235-237)TCG>TCA	p.S79S	LHX9_uc001gui.1_Silent_p.S70S|LHX9_uc001guj.1_Silent_p.S85S	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	79	LIM zinc-binding 1.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GCAAGATCTCGGACAGGTACT	0.627													A	197889164	G	A	197889164	2	1	27	1	0	0	0	0	0	0	0	1	8777	1103	39	1		1	LHX9	1	197889164	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	23	197889164	51361457	663	24614											
NEK7	140609	broad.mit.edu	37	chr1	198288607	198288607	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaccagacgtcacctatgtTtatgacgtagcaaagaggat	10	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:198288607T>G	uc001gun.3	+	10	1191	c.864T>G	c.(862-864)GTT>GTG	p.V288V		NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	288	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|lung(1)|ovary(1)	4						TCACCTATGTTTATGACGTAG	0.398													G	198288607	T	G	198288607	2	3	27	1	0	0	0	0	0	0	0	1	10329	1828	64	5		5	NEK7	1	198288607	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	399443	198288607	50962014	664	24615											
PTPRC	5788	broad.mit.edu	37	chr1	198711080	198711080	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggggtgcctgaggatcctcActtgctcctcaaactgagaa	11	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:198711080A>G	uc001gur.1	+	24	2660	c.2480A>G	c.(2479-2481)CAC>CGC	p.H827R	PTPRC_uc001gus.1_Missense_Mutation_p.H779R|PTPRC_uc001gut.1_Missense_Mutation_p.H666R	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	827	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						GAGGATCCTCACTTGCTCCTC	0.448													G	198711080	A	G	198711080	3	3	27	1	0	0	0	0	1	0	0	0	12797	159	6	3	2581	3	PTPRC	1	198711080	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	422473	198711080	50539541	665	24616											
PTPRC	5788	broad.mit.edu	37	chr1	198711111	198711111	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactgagaaggagagtgaaTgccttcagcaatttcttcag	10	7	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:198711111T>C	uc001gur.1	+	24	2691	c.2511T>C	c.(2509-2511)AAT>AAC	p.N837N	PTPRC_uc001gus.1_Silent_p.N789N|PTPRC_uc001gut.1_Silent_p.N676N	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	837	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						GGAGAGTGAATGCCTTCAGCA	0.463													C	198711111	T	C	198711111	2	2	27	1	0	0	0	0	0	0	0	1	12797	1461	51	3		3	PTPRC	1	198711111	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	31	198711111	50539510	666	24617											
KIF14	9928	broad.mit.edu	37	chr1	200534700	200534700	+	Frame_Shift_Del	DEL	A	A	-													tcttcatcataactctgtccAaaaaaatctaacgaagaacc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:200534699_200534699CA>C	uc010ppk.1	-	23	4199	c.3760_3760TG>G	c.(3760-3762)ggafs	p.G1254fs	KIF14_uc010ppj.1_Frame_Shift_Del_p.G763fs	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	1254	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	p.F1253C(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TAACTCTGTCCAAAAAAATCT	0.333													-	200534700	A	-	200534700	7	5	27	1	0	1	0	1	0	0	0	0	8276	127	5	0	1215	0	KIF14	1	200534700	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	1823589	200534700	48715921	667	24618											
KIF14	9928	broad.mit.edu	37	chr1	200539049	200539049	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaatacctgatgaatgTgaagaatgcaaattcttaat	6	4	1	4	rs150400242	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:200539049T>A	uc010ppk.1	-	23	4090	c.3651A>T	c.(3649-3651)TCA>TCT	p.S1217S	KIF14_uc010ppj.1_Silent_p.S726S	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	1217	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						CTGATGAATGTGAAGAATGCA	0.259													A	200539049	T	A	200539049	2	1	27	1	0	0	0	0	0	0	0	1	8276	1683	59	5		5	KIF14	1	200539049	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4349	200539049	48711572	668	24619											
KIF14	9928	broad.mit.edu	37	chr1	200558367	200558367	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttttgtagccaatgtttccAtttctaatcgctttttgttg	7	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:200558367A>G	uc010ppk.1	-	18	3531	c.3092T>C	c.(3091-3093)ATG>ACG	p.M1031T	KIF14_uc010ppj.1_Missense_Mutation_p.M540T	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	1031	Potential.|Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						CAATGTTTCCATTTCTAATCG	0.318													G	200558367	A	G	200558367	3	3	27	1	0	0	0	0	1	0	0	0	8276	217	8	3	1906	3	KIF14	1	200558367	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	19318	200558367	48692254	669	24620											
CAMSAP1L1	23271	broad.mit.edu	37	chr1	200822450	200822450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagaagatgagagagcacGcagagaatttattaggcaag	13	4	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:200822450G>A	uc001gvl.2	+	14	3953	c.3683G>A	c.(3682-3684)CGC>CAC	p.R1228H	CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.R1217H|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.R1201H	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	1228						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GAGAGAGCACGCAGAGAATTT	0.368													A	200822450	G	A	200822450	3	1	27	1	0	0	0	0	1	0	0	0	2612	1087	38	1	3700	1	CAMSAP1L1	1	200822450	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	264083	200822450	48428171	670	24621											
C1orf106	55765	broad.mit.edu	37	chr1	200880842	200880842	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaagacccatcgtcaccgCggggcctgggtcccagccgg	13	18	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:200880842C>T	uc001gvo.2	+	9	1506	c.1476C>T	c.(1474-1476)CGC>CGT	p.R492R	C1orf106_uc010ppm.1_Silent_p.R407R	NM_018265	NP_060735	Q3KP66	CA106_HUMAN	hypothetical protein LOC55765 isoform 1	492										skin(2)|ovary(1)	3						ATCGTCACCGCGGGGCCTGGG	0.687													T	200880842	C	T	200880842	2	4	27	1	0	0	0	0	0	0	0	1	1980	755	27	1		1	C1orf106	1	200880842	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	58392	200880842	48369779	671	24622											
KIF21B	23046	broad.mit.edu	37	chr1	200965463	200965463	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccggttcatctcccgcagcCtcttctcatagtctgccttg	7	17	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:200965463C>A	uc001gvs.1	-	15	2455	c.2138G>T	c.(2137-2139)AGG>ATG	p.R713M	KIF21B_uc001gvr.1_Missense_Mutation_p.R713M|KIF21B_uc009wzl.1_Missense_Mutation_p.R713M|KIF21B_uc010ppn.1_Missense_Mutation_p.R713M	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	713	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						CTCCCGCAGCCTCTTCTCATA	0.592													A	200965463	C	A	200965463	3	1	27	1	0	0	0	0	1	0	0	0	8289	681	24	5	2816	5	KIF21B	1	200965463	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	84621	200965463	48285158	672	24623											
KIF21B	23046	broad.mit.edu	37	chr1	200974805	200974805	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtgctgtcaaacaggtcaagGatctcctcgttgtagagctg	12	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:200974805G>T	uc001gvs.1	-	4	782	c.465C>A	c.(463-465)ATC>ATA	p.I155I	KIF21B_uc001gvr.1_Silent_p.I155I|KIF21B_uc009wzl.1_Silent_p.I155I|KIF21B_uc010ppn.1_Silent_p.I155I|KIF21B_uc001gvt.1_5'UTR	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	155	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						ACAGGTCAAGGATCTCCTCGT	0.537													T	200974805	G	T	200974805	2	4	27	1	0	0	0	0	0	0	0	1	8289	1164	41	5		5	KIF21B	1	200974805	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	9342	200974805	48275816	673	24624											
NAV1	89796	broad.mit.edu	37	chr1	201618328	201618328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagccggatccctcgaggaCcctatgcggaggtcaagccg	14	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:201618328C>T	uc001gwu.2	+	1	879	c.532C>T	c.(532-534)CCC>TCC	p.P178S		NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	178					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						CCCTCGAGGACCCTATGCGGA	0.692													T	201618328	C	T	201618328	3	4	27	1	0	0	0	0	1	0	0	0	10183	507	18	4	534	4	NAV1	1	201618328	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	643523	201618328	47632293	674	24625											
IPO9	55705	broad.mit.edu	37	chr1	201843974	201843974	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtagatgactccaatgatAtgtgggaggaccaggaggag	15	5	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:201843974A>G	uc001gwz.2	+	22	2898	c.2848A>G	c.(2848-2850)ATG>GTG	p.M950V		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	950					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						CTCCAATGATATGTGggagga	0.343													G	201843974	A	G	201843974	3	3	27	1	0	0	0	0	1	0	0	0	7799	449	16	3	2934	3	IPO9	1	201843974	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	225646	201843974	47406647	675	24626											
ELF3	1999	broad.mit.edu	37	chr1	201982112	201982112	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcccactcctcagactcCggtggaagtgacgtggacct	11	14	1	2	rs148651345		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:201982112C>T	uc001gxg.3	+	5	3828	c.636C>T	c.(634-636)TCC>TCT	p.S212S	ELF3_uc001gxi.3_Silent_p.S212S|ELF3_uc001gxh.3_Silent_p.S212S	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	212					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						CCTCAGACTCCGGTGGAAGTG	0.642													T	201982112	C	T	201982112	2	4	27	1	0	0	0	0	0	0	0	1	5055	639	23	1		1	ELF3	1	201982112	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	138138	201982112	47268509	676	24627											
GPR37L1	9283	broad.mit.edu	37	chr1	202097334	202097334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccgtggtgggcctgaccGtggtctacgccttctgcacc	13	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:202097334G>A	uc001gxj.2	+	2	1159	c.1096G>A	c.(1096-1098)GTG>ATG	p.V366M		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1 precursor	366	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2						GGGCCTGACCGTGGTCTACGC	0.652													A	202097334	G	A	202097334	3	1	27	1	0	0	0	0	1	0	0	0	6692	1145	40	1	1102	1	GPR37L1	1	202097334	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	115222	202097334	47153287	677	24628											
LGR6	59352	broad.mit.edu	37	chr1	202287192	202287192	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctggtgctgctgaccgtgttCgctggcgggcctgtccccct	14	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:202287192C>G	uc001gxu.2	+	18	1761	c.1761C>G	c.(1759-1761)TTC>TTG	p.F587L	LGR6_uc001gxv.2_Missense_Mutation_p.F535L|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.F448L	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	587	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						TGACCGTGTTCGCTGGCGGGC	0.617													G	202287192	C	G	202287192	3	3	27	1	0	0	0	0	1	0	0	0	8758	883	31	5	1978	5	LGR6	1	202287192	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	189858	202287192	46963429	678	24629											
PPP1R12B	4660	broad.mit.edu	37	chr1	202464568	202464568	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgattctgagagttcagagActaccacaaacactacaact	6	11	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:202464568A>T	uc001gya.1	+	16	2437	c.2293A>T	c.(2293-2295)ACT>TCT	p.T765S	PPP1R12B_uc001gxz.1_Missense_Mutation_p.T765S|PPP1R12B_uc001gyb.1_5'UTR|PPP1R12B_uc001gyc.1_5'UTR	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	765					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAGTTCAGAGACTACCACAAA	0.458													T	202464568	A	T	202464568	3	4	27	1	0	0	0	0	1	0	0	0	12355	275	10	5	2445	5	PPP1R12B	1	202464568	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	177376	202464568	46786053	679	24630											
PPP1R12B	4660	broad.mit.edu	37	chr1	202464749	202464749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctaagaggctgtccatccGagagaggaggcggcccaagg	15	11	1	2	rs3817221		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:202464749G>A	uc001gya.1	+	17	2531	c.2387G>A	c.(2386-2388)CGA>CAA	p.R796Q	PPP1R12B_uc001gxz.1_Missense_Mutation_p.R796Q|PPP1R12B_uc001gyb.1_Missense_Mutation_p.R22Q|PPP1R12B_uc001gyc.1_Missense_Mutation_p.R22Q	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	796					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			CTGTCCATCCGAGAGAGGAGG	0.463													A	202464749	G	A	202464749	3	1	27	1	0	0	0	0	1	0	0	0	12355	1058	37	1	2543	1	PPP1R12B	1	202464749	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	181	202464749	46785872	680	24631											
KDM5B	10765	broad.mit.edu	37	chr1	202704625	202704625	+	Frame_Shift_Del	DEL	T	T	-													cagactctctaatttggtgcTttttttctttccatttggca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:202704624_202704624CT>C	uc009xag.3	-	22	3580	c.3464_3464AG>G	c.(3463-3465)agcfs	p.S1155fs	KDM5B_uc001gyf.3_Frame_Shift_Del_p.S1119fs|KDM5B_uc001gyg.1_Frame_Shift_Del_p.S961fs	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1119					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TAATTTGGTGCTTTTTTTCTT	0.423													-	202704625	T	-	202704625	7	5	27	1	0	1	0	1	0	0	0	0	8134	1609	56	0	1303	0	KDM5B	1	202704625	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	239876	202704625	46545996	681	24632											
PPFIA4	8497	broad.mit.edu	37	chr1	203033065	203033065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgcctggtggacgcccGcatgctggaccacctcacca	13	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:203033065G>A	uc001gyz.2	+	12	2059	c.1466G>A	c.(1465-1467)CGC>CAC	p.R489H	PPFIA4_uc009xaj.2_Missense_Mutation_p.R1120H|PPFIA4_uc010pqf.1_Missense_Mutation_p.R702H|PPFIA4_uc001gza.2_Missense_Mutation_p.R480H|PPFIA4_uc001gzb.1_Missense_Mutation_p.R175H|PPFIA4_uc001gzc.1_Missense_Mutation_p.R31H	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	489	SAM 2.				cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						GTGGACGCCCGCATGCTGGAC	0.622													A	203033065	G	A	203033065	3	1	27	1	0	0	0	0	1	0	0	0	12312	1087	38	1	1512	1	PPFIA4	1	203033065	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	328440	203033065	46217556	682	24633											
MYBPH	4608	broad.mit.edu	37	chr1	203139459	203139459	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccttggtgacggtggcCgaggtgctgagtccacacag	15	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:203139459C>T	uc001gzh.1	-	7	1112	c.1053G>A	c.(1051-1053)TCG>TCA	p.S351S	FMOD_uc010pqi.1_Intron	NM_004997	NP_004988	Q13203	MYBPH_HUMAN	myosin binding protein H	351	Fibronectin type-III 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle				0			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TGACGGTGGCCGAGGTGCTGA	0.597													T	203139459	C	T	203139459	2	4	27	1	0	0	0	0	0	0	0	1	10014	639	23	1		1	MYBPH	1	203139459	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	106394	203139459	46111162	683	24634											
CHIT1	1118	broad.mit.edu	37	chr1	203186215	203186215	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttcagagggctgacctggTtttggaacttcaagctctgg	14	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:203186215T>G	uc001gzn.2	-	11	1299	c.1203A>C	c.(1201-1203)AAA>AAC	p.K401N	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_Missense_Mutation_p.K163N|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.K392N	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	chitotriosidase precursor	401					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0						GCTGACCTGGTTTTGGAACTT	0.562											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	203186215	T	G	203186215	3	3	27	1	0	0	0	0	1	0	0	0	3346	1722	60	5	201	5	CHIT1	1	203186215	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	46756	203186215	46064406	684	24635											
OPTC	26254	broad.mit.edu	37	chr1	203468795	203468795	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcaaagttgaagaggattgAcctctccaacaacctcattt	7	10	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:203468795A>T	uc001gzu.1	+	5	664	c.548A>T	c.(547-549)GAC>GTC	p.D183V		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	opticin precursor	183	LRR 2.					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGAGGATTGACCTCTCCAAC	0.502													T	203468795	A	T	203468795	3	4	27	1	0	0	0	0	1	0	0	0	10888	275	10	5	562	5	OPTC	1	203468795	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	282580	203468795	45781826	685	24636											
ZC3H11A	9877	broad.mit.edu	37	chr1	203816621	203816621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttttgccacccattgttgCcagcagaggacaatcagagg	11	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:203816621C>T	uc001hac.2	+	15	1968	c.1352C>T	c.(1351-1353)GCC>GTC	p.A451V	ZC3H11A_uc001had.2_Missense_Mutation_p.A451V|ZC3H11A_uc001hae.2_Missense_Mutation_p.A451V|ZC3H11A_uc001haf.2_Missense_Mutation_p.A451V|ZC3H11A_uc010pqm.1_Missense_Mutation_p.A397V|ZC3H11A_uc001hag.1_Missense_Mutation_p.A451V	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	451							nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCCATTGTTGCCAGCAGAGGA	0.423													T	203816621	C	T	203816621	3	4	27	1	0	0	0	0	1	0	0	0	17557	739	26	2	1394	2	ZC3H11A	1	203816621	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	347826	203816621	45434000	686	24637											
ZC3H11A	9877	broad.mit.edu	37	chr1	203820223	203820223	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaggacaaatcagtcacTgtgcctgaagcagaaaatcc	9	10	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:203820223T>C	uc001hac.2	+	19	2761	c.2145T>C	c.(2143-2145)ACT>ACC	p.T715T	ZC3H11A_uc001had.2_Silent_p.T715T|ZC3H11A_uc001hae.2_Silent_p.T715T|ZC3H11A_uc001haf.2_Silent_p.T715T|ZC3H11A_uc010pqm.1_Silent_p.T661T	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	715							nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AATCAGTCACTGTGCCTGAAG	0.408													C	203820223	T	C	203820223	2	2	27	1	0	0	0	0	0	0	0	1	17557	1567	55	3		3	ZC3H11A	1	203820223	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3602	203820223	45430398	687	24638											
SOX13	9580	broad.mit.edu	37	chr1	204083710	204083710	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaggtttctaggaaggaactCtatggaagccaaagatgtca	12	6	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:204083710C>A	uc001ham.2	+	4	990	c.395C>A	c.(394-396)TCT>TAT	p.S132Y	SOX13_uc001hal.2_Missense_Mutation_p.S132Y|SOX13_uc010pqp.1_Missense_Mutation_p.S132Y|SOX13_uc010pqq.1_5'Flank	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	SRY-box 13	132					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GGAAGGAACTCTATGGAAGCC	0.532													A	204083710	C	A	204083710	3	1	27	1	0	0	0	0	1	0	0	0	14944	913	32	5	405	5	SOX13	1	204083710	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	263487	204083710	45166911	688	24639											
ETNK2	55224	broad.mit.edu	37	chr1	204115797	204115797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatctcgttcttcacaagcGtgaaataattgtgcatcttg	8	8	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:204115797G>A	uc001hao.3	-	3	941	c.614C>T	c.(613-615)ACG>ATG	p.T205M	ETNK2_uc010pqr.1_Missense_Mutation_p.T27M|ETNK2_uc001han.3_Missense_Mutation_p.T205M|ETNK2_uc010pqs.1_Intron|ETNK2_uc010pqt.1_Missense_Mutation_p.T27M	NM_018208	NP_060678	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	205							ATP binding|choline kinase activity|ethanolamine kinase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTCACAAGCGTGAAATAATT	0.502													A	204115797	G	A	204115797	3	1	27	1	0	0	0	0	1	0	0	0	5274	1145	40	1	570	1	ETNK2	1	204115797	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	32087	204115797	45134824	689	24640											
PLEKHA6	22874	broad.mit.edu	37	chr1	204216588	204216588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggtgctgtttgtcagggCctacgggggaaagaggcgtt	17	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:204216588C>T	uc001hau.2	-	13	2142	c.1825G>A	c.(1825-1827)GCC>ACC	p.A609T	PLEKHA6_uc009xav.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	609										ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TTTGTCAGGGCCTACGGGGGA	0.567													T	204216588	C	T	204216588	3	4	27	1	0	0	0	0	1	0	0	0	12060	753	26	2	1361	2	PLEKHA6	1	204216588	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	100791	204216588	45034033	690	24641											
PLEKHA6	22874	broad.mit.edu	37	chr1	204217956	204217956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccctgggttaccgtggtcGcctgagacagctccacgcgg	13	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:204217956G>A	uc001hau.2	-	12	2134	c.1817C>T	c.(1816-1818)GCG>GTG	p.A606V		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	606								p.A606V(1)		ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TACCGTGGTCGCCTGAGACAG	0.582													A	204217956	G	A	204217956	3	1	27	1	0	0	0	0	1	0	0	0	12060	1087	38	1	1373	1	PLEKHA6	1	204217956	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1368	204217956	45032665	691	24642											
PLEKHA6	22874	broad.mit.edu	37	chr1	204234146	204234146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcaggagggggatgctgCccaggatactctcttccttc	12	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:204234146C>T	uc001hau.2	-	6	622	c.305G>A	c.(304-306)GGC>GAC	p.G102D		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	102	PH.									ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGGGATGCTGCCCAGGATACT	0.597													T	204234146	C	T	204234146	3	4	27	1	0	0	0	0	1	0	0	0	12060	739	26	2	2909	2	PLEKHA6	1	204234146	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	16190	204234146	45016475	692	24643											
PPP1R15B	84919	broad.mit.edu	37	chr1	204379416	204379416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggctctcttcttccaaaGcaagtggaacctctgtagtt	9	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:204379416G>A	uc001hav.3	-	1	1529	c.1124C>T	c.(1123-1125)GCT>GTT	p.A375V		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	375					regulation of translation					ovary(1)|pancreas(1)	2	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TTCTTCCAAAGCAAGTGGAAC	0.448													A	204379416	G	A	204379416	3	1	27	1	0	0	0	0	1	0	0	0	12364	971	34	2	1025	2	PPP1R15B	1	204379416	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	145270	204379416	44871205	693	24644											
PIK3C2B	5287	broad.mit.edu	37	chr1	204401362	204401362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggaagatcttctcatggCggcagaggaaaacatcactg	13	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:204401362C>T	uc001haw.2	-	28	4600	c.4121G>A	c.(4120-4122)CGC>CAC	p.R1374H	PIK3C2B_uc010pqv.1_Missense_Mutation_p.R1346H	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	1374	PX.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTTCTCATGGCGGCAGAGGAA	0.537											OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	204401362	C	T	204401362	3	4	27	1	0	0	0	0	1	0	0	0	11910	768	27	1	811	1	PIK3C2B	1	204401362	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	21946	204401362	44849259	694	24645											
LRRN2	10446	broad.mit.edu	37	chr1	204587072	204587072	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggcaggacgaggggagcAgacacaacccggacagaagg	17	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:204587072A>G	uc001hbe.1	-	3	2437	c.2049T>C	c.(2047-2049)TCT>TCC	p.S683S	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Silent_p.S683S|LRRN2_uc009xbf.1_Silent_p.S683S|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	683	Cytoplasmic (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CGAGGGGAGCAGACACAACCC	0.612													G	204587072	A	G	204587072	2	3	27	1	0	0	0	0	0	0	0	1	9035	175	7	3		3	LRRN2	1	204587072	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	185710	204587072	44663549	695	24646											
LRRN2	10446	broad.mit.edu	37	chr1	204588100	204588100	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagcgttgttgttgagcaTgagggtctccatctggggca	16	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:204588100T>C	uc001hbe.1	-	3	1409	c.1021A>G	c.(1021-1023)ATG>GTG	p.M341V	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.M341V|LRRN2_uc009xbf.1_Missense_Mutation_p.M341V|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	341	Extracellular (Potential).|LRR 12.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TTGTTGAGCATGAGGGTCTCC	0.617													C	204588100	T	C	204588100	3	2	27	1	0	0	0	0	1	0	0	0	9035	1464	51	3	1124	3	LRRN2	1	204588100	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1028	204588100	44662521	696	24647											
LRRN2	10446	broad.mit.edu	37	chr1	204588840	204588840	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggtccagctctgtgagaTtggccaggtagcccagctca	12	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:204588840T>C	uc001hbe.1	-	3	669	c.281A>G	c.(280-282)AAT>AGT	p.N94S	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.N94S|LRRN2_uc009xbf.1_Missense_Mutation_p.N94S|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	94	LRR 2.|Extracellular (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTCTGTGAGATTGGCCAGGTA	0.617													C	204588840	T	C	204588840	3	2	27	1	0	0	0	0	1	0	0	0	9035	1493	52	3	1864	3	LRRN2	1	204588840	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	740	204588840	44661781	697	24648											
LRRN2	10446	broad.mit.edu	37	chr1	204588931	204588931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcggggagtgccggggGgactgccgtcaggaataggt	20	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:204588931G>A	uc001hbe.1	-	3	578	c.190C>T	c.(190-192)CCC>TCC	p.P64S	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.P64S|LRRN2_uc009xbf.1_Missense_Mutation_p.P64S|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	64	Extracellular (Potential).|LRRNT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGTGCCGGGGGGACTGCCGTC	0.632													A	204588931	G	A	204588931	3	1	27	1	0	0	0	0	1	0	0	0	9035	1232	43	4	1955	4	LRRN2	1	204588931	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	91	204588931	44661690	698	24649											
NFASC	23114	broad.mit.edu	37	chr1	204923419	204923419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattgacttccgcagtggcGggcggccggaggaatatgag	17	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:204923419G>A	uc001hbj.2	+	6	647	c.319G>A	c.(319-321)GGG>AGG	p.G107R	NFASC_uc001hbh.2_Missense_Mutation_p.G107R|NFASC_uc010pqz.1_Missense_Mutation_p.G101R|NFASC_uc010pra.1_Missense_Mutation_p.G101R|NFASC_uc001hbi.2_Missense_Mutation_p.G101R|NFASC_uc009xbg.1_Missense_Mutation_p.G174R|NFASC_uc010prb.1_Missense_Mutation_p.G101R|NFASC_uc010prc.1_5'UTR	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	107	Ig-like C2-type 1.|Extracellular (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCGCAGTGGCGGGCGGCCGGA	0.582													A	204923419	G	A	204923419	3	1	27	1	0	0	0	0	1	0	0	0	10359	1116	39	1	333	1	NFASC	1	204923419	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	334488	204923419	44327202	699	24650											
NFASC	23114	broad.mit.edu	37	chr1	204926830	204926830	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtctctcagggccataaCggagacctatacttctccaa	8	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:204926830C>T	uc001hbj.2	+	8	910	c.582C>T	c.(580-582)AAC>AAT	p.N194N	NFASC_uc001hbh.2_Silent_p.N194N|NFASC_uc010pqz.1_Silent_p.N188N|NFASC_uc010pra.1_Silent_p.N188N|NFASC_uc001hbi.2_Silent_p.N188N|NFASC_uc009xbg.1_Silent_p.N261N|NFASC_uc010prb.1_Silent_p.N188N|NFASC_uc010prc.1_Translation_Start_Site|NFASC_uc001hbk.1_Silent_p.N15N	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	194	Extracellular (Potential).|Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGGGCCATAACGGAGACCTAT	0.502													T	204926830	C	T	204926830	2	4	27	1	0	0	0	0	0	0	0	1	10359	535	19	1		1	NFASC	1	204926830	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3411	204926830	44323791	700	24651											
CNTN2	6900	broad.mit.edu	37	chr1	205033516	205033516	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgcggcccgcgggggagagaTccttatcccctgccagcccc	13	18	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:205033516T>A	uc001hbr.2	+	11	1576	c.1307T>A	c.(1306-1308)ATC>AAC	p.I436N	CNTN2_uc001hbq.1_Missense_Mutation_p.I327N|CNTN2_uc001hbs.2_Missense_Mutation_p.I224N	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	436	Ig-like C2-type 5.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGGGGAGAGATCCTTATCCCC	0.622													A	205033516	T	A	205033516	3	1	27	1	0	0	0	0	1	0	0	0	3641	1435	50	5	1345	5	CNTN2	1	205033516	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	106686	205033516	44217105	701	24652											
TMCC2	9911	broad.mit.edu	37	chr1	205241020	205241020	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtggtacagctggaggGcgtggagaatgccaacgcgc	18	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:205241020G>T	uc001hbz.1	+	6	2342	c.1898G>T	c.(1897-1899)GGC>GTC	p.G633V	TMCC2_uc010prf.1_Missense_Mutation_p.G555V|TMCC2_uc001hca.2_Missense_Mutation_p.G408V|TMCC2_uc001hcb.1_Missense_Mutation_p.G393V|TMCC2_uc001hcc.1_Missense_Mutation_p.G254V|TMCC2_uc001hcd.2_3'UTR	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	633	Potential.					integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAGCTGGAGGGCGTGGAGAAT	0.657													T	205241020	G	T	205241020	3	4	27	1	0	0	0	0	1	0	0	0	15990	1203	42	5	1916	5	TMCC2	1	205241020	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	207504	205241020	44009601	702	24653											
LEMD1	93273	broad.mit.edu	37	chr1	205388445	205388445	+	Missense_Mutation	SNP	G	G	T													gggaggtgagaccaacaactGtactaactttttttcataca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:205388445G>T	uc001hcj.1	-	3	220	c.118C>A	c.(118-120)CAG>AAG	p.Q40K	LEMD1_uc001hci.1_Missense_Mutation_p.Q40K|LEMD1_uc001hck.1_RNA|LEMD1_uc001hcl.1_Intron|LEMD1_uc001hcm.1_Intron|LEMD1_uc001hcn.1_Intron			Q68G75	LEMD1_HUMAN	RecName: Full=LEM domain-containing protein 1;          Short=LEMP-1; AltName: Full=Cancer/testis antigen 50;          Short=CT50;	40	LEM.					integral to membrane|nuclear envelope					0	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			ACCAACAACTGTACTAACTTT	0.443													T	205388445	G	T	205388445	3	4	27	1	0	0	0	0	1	0	0	0	8719	1386	48	5	216	5	LEMD1	1	205388445	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	147425	205388445	43862176	703	24654	79	2									
LEMD1	93273	broad.mit.edu	37	chr1	205388453	205388453	+	Missense_Mutation	SNP	T	T	C													agaccaacaactgtactaacTttttttcatacaactttctg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:205388453T>C	uc001hcj.1	-	3	212	c.110A>G	c.(109-111)AAG>AGG	p.K37R	LEMD1_uc001hci.1_Missense_Mutation_p.K37R|LEMD1_uc001hck.1_RNA|LEMD1_uc001hcl.1_Intron|LEMD1_uc001hcm.1_Intron|LEMD1_uc001hcn.1_Intron			Q68G75	LEMD1_HUMAN	RecName: Full=LEM domain-containing protein 1;          Short=LEMP-1; AltName: Full=Cancer/testis antigen 50;          Short=CT50;	37	LEM.					integral to membrane|nuclear envelope					0	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			CTGTACTAACTTTTTTTCATA	0.433													C	205388453	T	C	205388453	3	2	27	1	0	0	0	0	1	0	0	0	8719	1609	56	3	224	3	LEMD1	1	205388453	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	8	205388453	43862168	704	24655	79	2									
CDK18	5129	broad.mit.edu	37	chr1	205496974	205496974	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctactgtcaccaccgcaagaTcctgcaccgggacctgaagc	9	16	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:205496974T>C	uc001hcr.2	+	9	1091	c.872T>C	c.(871-873)ATC>ACC	p.I291T	CDK18_uc001hcp.2_Missense_Mutation_p.I261T|CDK18_uc001hcq.2_Missense_Mutation_p.I261T|CDK18_uc010prj.1_Missense_Mutation_p.I172T|CDK18_uc001hcs.2_Missense_Mutation_p.I172T|CDK18_uc009xbm.1_Missense_Mutation_p.I186T|CDK18_uc001hct.2_5'Flank	NM_212503	NP_997668	Q07002	CDK18_HUMAN	PCTAIRE protein kinase 3 isoform a	259	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			stomach(2)	2						CACCGCAAGATCCTGCACCGG	0.627													C	205496974	T	C	205496974	3	2	27	1	0	0	0	0	1	0	0	0	3134	1435	50	3	902	3	CDK18	1	205496974	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	108521	205496974	43753647	705	24656											
MFSD4	148808	broad.mit.edu	37	chr1	205561362	205561362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcctgggcctgtttctcaGcagcaccttccccagcatgc	9	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:205561362G>A	uc001hcv.3	+	7	1330	c.1244G>A	c.(1243-1245)AGC>AAC	p.S415N	MFSD4_uc010prk.1_Missense_Mutation_p.S328N|MFSD4_uc010prl.1_RNA|MFSD4_uc010prm.1_Missense_Mutation_p.S360N|MFSD4_uc009xbn.2_RNA	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing	415	Helical; (Potential).				transmembrane transport	integral to membrane				skin(2)|central_nervous_system(1)	3	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CTGTTTCTCAGCAGCACCTTC	0.622											OREG0014160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	205561362	G	A	205561362	3	1	27	1	0	0	0	0	1	0	0	0	9533	971	34	2	1270	2	MFSD4	1	205561362	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	64388	205561362	43689259	706	24657											
MFSD4	148808	broad.mit.edu	37	chr1	205568338	205568338	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttttaccttctatatctTgctcctgtttttccacagga	6	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:205568338T>C	uc001hcv.3	+	9	1534	c.1448T>C	c.(1447-1449)TTG>TCG	p.L483S	MFSD4_uc010prk.1_Missense_Mutation_p.L396S|MFSD4_uc010prl.1_RNA|MFSD4_uc010prm.1_Missense_Mutation_p.L428S|MFSD4_uc009xbn.2_RNA	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing	483	Helical; (Potential).				transmembrane transport	integral to membrane				skin(2)|central_nervous_system(1)	3	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TTCTATATCTTGCTCCTGTTT	0.502													C	205568338	T	C	205568338	3	2	27	1	0	0	0	0	1	0	0	0	9533	1821	63	3	1482	3	MFSD4	1	205568338	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	6976	205568338	43682283	707	24658											
SLC45A3	85414	broad.mit.edu	37	chr1	205633776	205633776	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggcggctcacccacagcctCtggaccatagtgggccaggc	13	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:205633776C>A	uc001hda.1	-	2	348	c.9G>T	c.(7-9)CAG>CAT	p.Q3H	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'Flank|SLC45A3_uc010prp.1_RNA|ELK4_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	prostein	3					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)	ovary(2)|prostate(2)	4	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCCACAGCCTCTGGACCATAG	0.647			T	ETV1|ETV5|ELK4|ERG	prostate 								A	205633776	C	A	205633776	3	1	27	1	0	0	0	0	1	0	0	0	14642	912	32	5	1668	5	SLC45A3	1	205633776	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	65438	205633776	43616845	708	24659											
NUCKS1	64710	broad.mit.edu	37	chr1	205689743	205689743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgcctgccgttgttggcGcacatttttatgatcttctt	9	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:205689743G>A	uc001hdb.2	-	5	528	c.268C>T	c.(268-270)CGC>TGC	p.R90C		NM_022731	NP_073568	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent	90						nucleus					0	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CGTTGTTGGCGCACATTTTTA	0.398													A	205689743	G	A	205689743	3	1	27	1	0	0	0	0	1	0	0	0	10720	1087	38	1	475	1	NUCKS1	1	205689743	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	55967	205689743	43560878	709	24660											
SLC26A9	115019	broad.mit.edu	37	chr1	205892522	205892522	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtagagaggggagcagtAcgtgatgattttaatcccct	12	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:205892522A>G	uc001hdq.2	-	15	1714	c.1600T>C	c.(1600-1602)TAC>CAC	p.Y534H	SLC26A9_uc001hdo.2_Missense_Mutation_p.Y202H|SLC26A9_uc001hdp.2_Missense_Mutation_p.Y534H	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	solute carrier family 26, member 9 isoform a	534	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			ovary(1)|skin(1)	2	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGGGAGCAGTACGTGATGATT	0.493													G	205892522	A	G	205892522	3	3	27	1	0	0	0	0	1	0	0	0	14524	391	14	3	1099	3	SLC26A9	1	205892522	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	202779	205892522	43358099	710	24661											
CTSE	1510	broad.mit.edu	37	chr1	206331109	206331109	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccctctggatcctgggggAtgtcttcattcgacagtttt	11	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:206331109A>G	uc001hdu.2	+	9	1233	c.1115A>G	c.(1114-1116)GAT>GGT	p.D372G	CTSE_uc001hdv.2_Missense_Mutation_p.M325V|CTSE_uc010prs.1_Missense_Mutation_p.M250V	NM_001910	NP_001901	P14091	CATE_HUMAN	cathepsin E isoform a preproprotein	377					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.0754)			ATCCTGGGGGATGTCTTCATT	0.567													G	206331109	A	G	206331109	3	3	27	1	0	0	0	0	1	0	0	0	4033	333	12	3	1149	3	CTSE	1	206331109	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	438587	206331109	42919512	711	24662											
SRGAP2	23380	broad.mit.edu	37	chr1	206611397	206611397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctttacttccgggggctgGaacaccctctcttccccaag	9	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:206611397G>A	uc001hdy.2	+	13	1789	c.1456G>A	c.(1456-1458)GAA>AAA	p.E486K	SRGAP2_uc010prt.1_Missense_Mutation_p.E409K|SRGAP2_uc001hdx.2_Missense_Mutation_p.E486K|SRGAP2_uc010pru.1_Missense_Mutation_p.E409K|SRGAP2_uc010prv.1_Missense_Mutation_p.E410K	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	573	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)					CCGGGGGCTGGAACACCCTCT	0.552													A	206611397	G	A	206611397	3	1	27	1	0	0	0	0	1	0	0	0	15145	1175	41	4	1507	4	SRGAP2	1	206611397	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	280288	206611397	42639224	712	24663											
IKBKE	9641	broad.mit.edu	37	chr1	206664989	206664989	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcgttctagggtgaattTcagtcatttagccaaaagac	9	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:206664989T>A	uc001hdz.1	+	18	2110	c.1742T>A	c.(1741-1743)TTC>TAC	p.F581Y	IKBKE_uc009xbv.1_Missense_Mutation_p.F581Y|IKBKE_uc001hea.1_Missense_Mutation_p.F496Y	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	581					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)					AGGGTGAATTTCAGTCATTTA	0.522													A	206664989	T	A	206664989	3	1	27	1	0	0	0	0	1	0	0	0	7612	1783	62	5	1804	5	IKBKE	1	206664989	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	53592	206664989	42585632	713	24664											
C1orf116	79098	broad.mit.edu	37	chr1	207196284	207196284	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgagaggggagcatcttcAgctcttgcattctgaggcaa	13	8	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:207196284A>G	uc001hfd.2	-	4	1084	c.825T>C	c.(823-825)GCT>GCC	p.A275A	C1orf116_uc009xcb.1_Silent_p.A29A	NM_023938	NP_076427	Q9BW04	SARG_HUMAN	specifically androgen-regulated protein isoform	275						cytoplasm|plasma membrane	receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Prostate(682;0.19)					GAGCATCTTCAGCTCTTGCAT	0.547													G	207196284	A	G	207196284	2	3	27	1	0	0	0	0	0	0	0	1	1989	175	7	3		3	C1orf116	1	207196284	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	531295	207196284	42054337	714	24665											
YOD1	55432	broad.mit.edu	37	chr1	207222646	207222646	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataagcagaacccttttggTatatcctgcatcttccccaa	5	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:207222646T>C	uc001hfe.1	-	2	813	c.766A>G	c.(766-768)ACC>GCC	p.T256A	PFKFB2_uc010psc.1_Intron|YOD1_uc001hff.1_Missense_Mutation_p.T212A	NM_018566	NP_061036	Q5VVQ6	OTU1_HUMAN	YOD1 OTU deubiquinating enzyme 1 homolog	256	OTU.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1	Prostate(682;0.19)					ACCCTTTTGGTATATCCTGCA	0.393													C	207222646	T	C	207222646	3	2	27	1	0	0	0	0	1	0	0	0	17485	1638	57	3	284	3	YOD1	1	207222646	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	26362	207222646	42027975	715	24666											
CR1	1378	broad.mit.edu	37	chr1	207753708	207753708	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgacctcagaggggctgcgtCtctgcactgcacaccccagg	12	15	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:207753708C>T	uc001hfy.2	+	22	3850	c.3710C>T	c.(3709-3711)TCT>TTT	p.S1237F	CR1_uc009xcl.1_Missense_Mutation_p.S787F|CR1_uc001hfx.2_Missense_Mutation_p.S1687F	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1237	Extracellular (Potential).|Sushi 19.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						GGGGCTGCGTCTCTGCACTGC	0.567													T	207753708	C	T	207753708	3	4	27	1	0	0	0	0	1	0	0	0	3840	913	32	4	5178	4	CR1	1	207753708	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	531062	207753708	41496913	716	24667											
PLXNA2	5362	broad.mit.edu	37	chr1	208257862	208257862	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatttcgcgccttaagggTgattggctttacctccccga	10	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:208257862T>C	uc001hgz.2	-	10	2919	c.2161A>G	c.(2161-2163)ACC>GCC	p.T721A		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	721	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCCTTAAGGGTGATTGGCTTT	0.607													C	208257862	T	C	208257862	3	2	27	1	0	0	0	0	1	0	0	0	12120	1696	59	3	3615	3	PLXNA2	1	208257862	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	504154	208257862	40992759	717	24668											
LAMB3	3914	broad.mit.edu	37	chr1	209799327	209799327	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaggcagcggcctgatgcctTgtcgcagcccgggccctctg	15	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:209799327T>A	uc001hhg.2	-	13	2032	c.1642A>T	c.(1642-1644)AAG>TAG	p.K548*	LAMB3_uc009xco.2_Nonsense_Mutation_p.K548*|LAMB3_uc001hhh.2_Nonsense_Mutation_p.K548*|LAMB3_uc010psl.1_Intron|hsa-mir-4260|MI0015859_5'Flank	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	548	Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCTGATGCCTTGTCGCAGCCC	0.637													A	209799327	T	A	209799327	4	1	27	1	0	0	0	0	0	1	0	0	8612	1821	63	5	1916	5	LAMB3	1	209799327	Nonsense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1541465	209799327	39451294	718	24669											
HSD11B1	3290	broad.mit.edu	37	chr1	209878342	209878342	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggctcttcatggcctacTactactattctgcaaacgag	9	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:209878342T>C	uc001hhj.2	+	2	162	c.55T>C	c.(55-57)TAC>CAC	p.Y19H	HSD11B1_uc001hhk.2_Missense_Mutation_p.Y19H	NM_181755	NP_861420	P28845	DHI1_HUMAN	11-beta-hydroxysteroid dehydrogenase 1	19	Helical; Signal-anchor for type II membrane protein; (Potential).			YYY->AYA: No effect on topology. Reduced Vmax.|YYYY->FFFF: No effect on topology or activity.|YYYY->AAAA: No effect on topology. Reduced Vmax.	glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase (NADP+) activity|11-beta-hydroxysteroid dehydrogenase|binding			breast(1)	1				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	CATGGCCTACTACTACTATTC	0.468													C	209878342	T	C	209878342	3	2	27	1	0	0	0	0	1	0	0	0	7375	1522	53	3	57	3	HSD11B1	1	209878342	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	79015	209878342	39372279	719	24670											
SERTAD4	56256	broad.mit.edu	37	chr1	210411419	210411419	+	Frame_Shift_Del	DEL	C	C	-													gacagctacggaggcccaagCcccccagggccagcacaagc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:210411418_210411418GC>G	uc001hhy.3	+	1	292	c.113_113GC>G	c.(112-114)agcfs	p.S38fs	SERTAD4_uc009xcw.3_Frame_Shift_Del_p.S38fs	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA.	38							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		GGAGGCCCAAGCCCCCCAGGG	0.617													-	210411419	C	-	210411419	7	5	27	1	0	1	0	1	0	0	0	0	14123	738	26	0	116	0	SERTAD4	1	210411419	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	533077	210411419	38839202	720	24671											
HHAT	55733	broad.mit.edu	37	chr1	210637971	210637971	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcccccgctgcgtgagcAccatgttcagtttcaccggg	10	17	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:210637971A>G	uc009xcx.2	+	8	1145	c.979A>G	c.(979-981)ACC>GCC	p.T327A	HHAT_uc010psq.1_Missense_Mutation_p.T190A|HHAT_uc001hhz.3_Missense_Mutation_p.T327A|HHAT_uc010psr.1_Missense_Mutation_p.T328A|HHAT_uc010pss.1_Missense_Mutation_p.T282A|HHAT_uc009xcy.2_Missense_Mutation_p.T262A|HHAT_uc010pst.1_Missense_Mutation_p.T264A|HHAT_uc010psu.1_Missense_Mutation_p.T262A|HHAT_uc001hia.3_Missense_Mutation_p.T17A	NM_001122834	NP_001116306	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	327					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CTGCGTGAGCACCATGTTCAG	0.597													G	210637971	A	G	210637971	3	3	27	1	0	0	0	0	1	0	0	0	7089	159	6	3	1103	3	HHAT	1	210637971	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	226552	210637971	38612650	721	24672											
RCOR3	55758	broad.mit.edu	37	chr1	211451523	211451523	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggaaaaaaactcgctctaGgacaagtttgatggatcgcc	10	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:211451523G>T	uc001hig.2	+	5	576	c.407G>T	c.(406-408)AGG>ATG	p.R136M	RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.R194M|RCOR3_uc010psw.1_Missense_Mutation_p.R194M|RCOR3_uc001hif.2_Missense_Mutation_p.R194M	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		ACTCGCTCTAGGACAAGTTTG	0.353													T	211451523	G	T	211451523	3	4	27	1	0	0	0	0	1	0	0	0	13184	1000	35	5	603	5	RCOR3	1	211451523	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	813552	211451523	37799098	722	24673											
DTL	51514	broad.mit.edu	37	chr1	212273797	212273797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggctctgtctcctccGtctctcccaagccaccttca	7	17	4	1	rs116830651	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:212273797G>A	uc009xdc.2	+	14	1779	c.1465G>A	c.(1465-1467)GTC>ATC	p.V489I	DTL_uc010ptb.1_Missense_Mutation_p.V447I|DTL_uc001hiz.3_Missense_Mutation_p.V218I	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	denticleless homolog	489					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TGTCTCCTCCGTCTCTCCCAA	0.522													A	212273797	G	A	212273797	3	1	27	1	0	0	0	0	1	0	0	0	4787	1145	40	1	1519	1	DTL	1	212273797	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	822274	212273797	36976824	723	24674											
TMEM206	55248	broad.mit.edu	37	chr1	212560349	212560349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacggccacagccatgagcAgcaggtagatgaagatgagt	14	8	0	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:212560349A>G	uc001hjc.3	-	3	395	c.227T>C	c.(226-228)CTG>CCG	p.L76P	TMEM206_uc010pte.1_Missense_Mutation_p.L137P	NM_018252	NP_060722	Q9H813	TM206_HUMAN	transmembrane protein 206	76	Helical; (Potential).					integral to membrane				breast(1)	1				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		AGCCATGAGCAGCAGGTAGAT	0.542													G	212560349	A	G	212560349	3	3	27	1	0	0	0	0	1	0	0	0	16128	188	7	3	849	3	TMEM206	1	212560349	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	286552	212560349	36690272	724	24675											
RPS6KC1	26750	broad.mit.edu	37	chr1	213302945	213302945	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagttagatgatggaatggCttccaatcaaaattctccca	8	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:213302945C>A	uc010ptr.1	+	6	707	c.548C>A	c.(547-549)GCT>GAT	p.A183D	RPS6KC1_uc001hkd.2_Missense_Mutation_p.A171D|RPS6KC1_uc010pts.1_Missense_Mutation_p.A2D|RPS6KC1_uc010ptt.1_Missense_Mutation_p.A2D|RPS6KC1_uc010ptu.1_Missense_Mutation_p.A2D|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc001hke.2_Missense_Mutation_p.A2D	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	183					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GATGGAATGGCTTCCAATCAA	0.403													A	213302945	C	A	213302945	3	1	27	1	0	0	0	0	1	0	0	0	13658	797	28	5	570	5	RPS6KC1	1	213302945	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	742596	213302945	35947676	725	24676											
PROX1	5629	broad.mit.edu	37	chr1	214170459	214170459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaatgaaagagagatggCcccgcagtctgtgagtcccc	12	10	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:214170459C>T	uc001hkh.2	+	2	853	c.581C>T	c.(580-582)GCC>GTC	p.A194V	PROX1_uc001hkg.1_Missense_Mutation_p.A194V	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	194					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGAGAGATGGCCCCGCAGTCT	0.522													T	214170459	C	T	214170459	3	4	27	1	0	0	0	0	1	0	0	0	12560	739	26	2	583	2	PROX1	1	214170459	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	867514	214170459	35080162	726	24677											
PTPN14	5784	broad.mit.edu	37	chr1	214557227	214557227	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggtggagcgacttgagCgtcatggcctccatgccccg	16	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:214557227C>T	uc001hkk.1	-	13	2242	c.1971G>A	c.(1969-1971)ACG>ACA	p.T657T	PTPN14_uc010pty.1_Silent_p.T558T	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	657					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GCGACTTGAGCGTCATGGCCT	0.682													T	214557227	C	T	214557227	2	4	27	1	0	0	0	0	0	0	0	1	12783	755	27	1		1	PTPN14	1	214557227	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	386768	214557227	34693394	727	24678											
CENPF	1063	broad.mit.edu	37	chr1	214813868	214813868	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagacttctcagcttacTgggcaagttgaagatctaga	10	7	2	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:214813868T>C	uc001hkm.2	+	12	2361	c.2187T>C	c.(2185-2187)ACT>ACC	p.T729T		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	729	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTCAGCTTACTGGGCAAGTTG	0.398													C	214813868	T	C	214813868	2	2	27	1	0	0	0	0	0	0	0	1	3231	1567	55	3		3	CENPF	1	214813868	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	256641	214813868	34436753	728	24679											
CENPF	1063	broad.mit.edu	37	chr1	214816273	214816273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtattttgcagcagtcTgcaggaggagaatctgacca	12	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:214816273T>C	uc001hkm.2	+	12	4766	c.4592T>C	c.(4591-4593)CTG>CCG	p.L1531P		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	1627					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGCAGCAGTCTGCAGGAGGAG	0.498													C	214816273	T	C	214816273	3	2	27	1	0	0	0	0	1	0	0	0	3231	1580	55	3	4634	3	CENPF	1	214816273	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2405	214816273	34434348	729	24680											
KCNK2	3776	broad.mit.edu	37	chr1	215342543	215342543	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caatgtaatttttttaaaggAtttggaaacatctcaccacg	6	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:215342543A>T	uc001hkq.2	+	4	646	c.477A>T	c.(475-477)GGA>GGT	p.G159G	KCNK2_uc001hko.2_Silent_p.G155G|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Silent_p.G144G	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	159							outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TTTTTAAAGGATTTGGAAACA	0.313													T	215342543	A	T	215342543	2	4	27	1	0	0	0	0	0	0	0	1	8066	347	12	5		5	KCNK2	1	215342543	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	526270	215342543	33908078	730	24681											
KCTD3	51133	broad.mit.edu	37	chr1	215751371	215751371	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttctcttatgtgaagaatTggagcgttcctcttgtggca	11	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:215751371T>C	uc001hks.2	+	6	638	c.344T>C	c.(343-345)TTG>TCG	p.L115S	KCTD3_uc001hkt.2_Missense_Mutation_p.L115S|KCTD3_uc010pub.1_Missense_Mutation_p.L13S|KCTD3_uc009xdn.2_5'Flank	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	115						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TGTGAAGAATTGGAGCGTTCC	0.338													C	215751371	T	C	215751371	3	2	27	1	0	0	0	0	1	0	0	0	8110	1821	63	3	366	3	KCTD3	1	215751371	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	408828	215751371	33499250	731	24682											
KCTD3	51133	broad.mit.edu	37	chr1	215785250	215785250	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactatttgtaagactctcaTcgactggaaaaaggtaacac	7	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:215785250T>C	uc001hks.2	+	15	1843	c.1549T>C	c.(1549-1551)TCG>CCG	p.S517P	KCTD3_uc001hkt.2_Missense_Mutation_p.S517P|KCTD3_uc010pub.1_Missense_Mutation_p.S415P|KCTD3_uc009xdn.2_Missense_Mutation_p.S241P	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	517						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AAGACTCTCATCGACTGGAAA	0.353													C	215785250	T	C	215785250	3	2	27	1	0	0	0	0	1	0	0	0	8110	1435	50	3	1607	3	KCTD3	1	215785250	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	33879	215785250	33465371	732	24683											
USH2A	7399	broad.mit.edu	37	chr1	215901647	215901647	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtgaaaggcctcagggTgtctccttcatccataaatt	10	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:215901647T>C	uc001hku.1	-	61	12178	c.11791A>G	c.(11791-11793)ACC>GCC	p.T3931A		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3931	Fibronectin type-III 24.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGCCTCAGGGTGTCTCCTTCA	0.493										HNSCC(13;0.011)			C	215901647	T	C	215901647	3	2	27	1	0	0	0	0	1	0	0	0	17033	1696	59	3	3865	3	USH2A	1	215901647	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	116397	215901647	33348974	733	24684											
USH2A	7399	broad.mit.edu	37	chr1	216073503	216073503	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accgaaacatatactctgtgTacggttggagatcactcact	8	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:216073503T>C	uc001hku.1	-	40	7895	c.7508A>G	c.(7507-7509)TAC>TGC	p.Y2503C		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2503	Extracellular (Potential).|Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATACTCTGTGTACGGTTGGAG	0.413										HNSCC(13;0.011)			C	216073503	T	C	216073503	3	2	27	1	0	0	0	0	1	0	0	0	17033	1638	57	3	8232	3	USH2A	1	216073503	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	171856	216073503	33177118	734	24685											
USH2A	7399	broad.mit.edu	37	chr1	216262383	216262383	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccatccagagtgatttgGccaaaagcctgatgcctaat	8	11	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:216262383G>A	uc001hku.1	-	23	5244	c.4857C>T	c.(4855-4857)GGC>GGT	p.G1619G		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1619	Laminin G-like 1.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGTGATTTGGCCAAAAGCCT	0.363										HNSCC(13;0.011)			A	216262383	G	A	216262383	2	1	27	1	0	0	0	0	0	0	0	1	17033	1190	42	2		2	USH2A	1	216262383	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	188880	216262383	32988238	735	24686											
USH2A	7399	broad.mit.edu	37	chr1	216369957	216369957	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaagcatattgatgtcatAccccacaacttttcctcttg	5	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:216369957A>G	uc001hku.1	-	19	4576	c.4189T>C	c.(4189-4191)TAT>CAT	p.Y1397H	USH2A_uc001hkv.2_Missense_Mutation_p.Y1397H	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1397	Extracellular (Potential).|Fibronectin type-III 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGATGTCATACCCCACAACT	0.408										HNSCC(13;0.011)			G	216369957	A	G	216369957	3	3	27	1	0	0	0	0	1	0	0	0	17033	391	14	3	11649	3	USH2A	1	216369957	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	107574	216369957	32880664	736	24687											
USH2A	7399	broad.mit.edu	37	chr1	216371840	216371840	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaggactgagccaaccacTgctctgaaaaactcgacttt	8	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:216371840T>C	uc001hku.1	-	18	4285	c.3898A>G	c.(3898-3900)AGT>GGT	p.S1300G	USH2A_uc001hkv.2_Missense_Mutation_p.S1300G	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1300	Fibronectin type-III 3.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGCCAACCACTGCTCTGAAAA	0.378										HNSCC(13;0.011)			C	216371840	T	C	216371840	3	2	27	1	0	0	0	0	1	0	0	0	17033	1580	55	3	11944	3	USH2A	1	216371840	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1883	216371840	32878781	737	24688											
USH2A	7399	broad.mit.edu	37	chr1	216595608	216595608	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggatattgaagcaaaaTaggcaaagatcaacatttca	7	6	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:216595608T>C	uc001hku.1	-	2	458	c.71A>G	c.(70-72)TAT>TGT	p.Y24C	USH2A_uc001hkv.2_Missense_Mutation_p.Y24C	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	24					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAAGCAAAATAGGCAAAGAT	0.428										HNSCC(13;0.011)			C	216595608	T	C	216595608	3	2	27	1	0	0	0	0	1	0	0	0	17033	1406	49	3	15835	3	USH2A	1	216595608	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	223768	216595608	32655013	738	24689											
GPATCH2	55105	broad.mit.edu	37	chr1	217793422	217793422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttacctttctcctcctgCgcagagttctattcccaaca	5	14	2	1	rs150988724	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:217793422C>T	uc001hlf.1	-	2	572	c.476G>A	c.(475-477)CGC>CAC	p.R159H	GPATCH2_uc001hlg.3_Missense_Mutation_p.R159H	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	159						intracellular	nucleic acid binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TCTCCTCCTGCGCAGAGTTCT	0.473													T	217793422	C	T	217793422	3	4	27	1	0	0	0	0	1	0	0	0	6591	768	27	1	1146	1	GPATCH2	1	217793422	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1197814	217793422	31457199	739	24690											
GPATCH2	55105	broad.mit.edu	37	chr1	217793701	217793701	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttttctccctctccttttcCttgcctggcgtttcagaggg	9	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:217793701C>A	uc001hlf.1	-	2	293	c.197G>T	c.(196-198)AGG>ATG	p.R66M	GPATCH2_uc001hlg.3_Missense_Mutation_p.R66M	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	66						intracellular	nucleic acid binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TCTCCTTTTCCTTGCCTGGCG	0.488													A	217793701	C	A	217793701	3	1	27	1	0	0	0	0	1	0	0	0	6591	681	24	5	1425	5	GPATCH2	1	217793701	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	279	217793701	31456920	740	24691											
SPATA17	128153	broad.mit.edu	37	chr1	217856611	217856611	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttaatagattcagagacgAtggcgaggctatagggttcg	13	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:217856611A>T	uc001hlh.1	+	5	329	c.303A>T	c.(301-303)CGA>CGT	p.R101R	SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Silent_p.R101R	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	101	IQ 3.					cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTCAGAGACGATGGCGAGGCT	0.313													T	217856611	A	T	217856611	2	4	27	1	0	0	0	0	0	0	0	1	15001	320	12	5		5	SPATA17	1	217856611	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	62910	217856611	31394010	741	24692											
SLC30A10	55532	broad.mit.edu	37	chr1	220100394	220100394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatattcagagcttcagactTtttctcttttttcatcatgt	5	8	5	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:220100394T>C	uc001hlw.2	-	2	905	c.694A>G	c.(694-696)AAG>GAG	p.K232E	SLC30A10_uc001hlu.1_RNA|SLC30A10_uc001hlx.2_Missense_Mutation_p.K7E	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	solute carrier family 30 (zinc transporter),	232	Cytoplasmic (Potential).				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GCTTCAGACTTTTTCTCTTTT	0.378													C	220100394	T	C	220100394	3	2	27	1	0	0	0	0	1	0	0	0	14554	1850	64	3	775	3	SLC30A10	1	220100394	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2243783	220100394	29150227	742	24693											
EPRS	2058	broad.mit.edu	37	chr1	220193341	220193341	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaacataccatccatctacTagtccttcattgacaaacca	2	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:220193341T>C	uc001hly.1	-	10	1608	c.1338A>G	c.(1336-1338)CTA>CTG	p.L446L	EPRS_uc010puf.1_Silent_p.L197L|EPRS_uc001hlz.1_Silent_p.L446L|EPRS_uc009xdt.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	446	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	ATCCATCTACTAGTCCTTCAT	0.348													C	220193341	T	C	220193341	2	2	27	1	0	0	0	0	0	0	0	1	5191	1509	53	3		3	EPRS	1	220193341	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	92947	220193341	29057280	743	24694											
EPRS	2058	broad.mit.edu	37	chr1	220203728	220203728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgagttacattttcttacCcactggcctctggaggaaat	9	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:220203728C>T	uc001hly.1	-	6	893	c.623G>A	c.(622-624)GGT>GAT	p.G208D	EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Missense_Mutation_p.G208D|EPRS_uc009xdt.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	208	Glutamyl-tRNA synthetase.|"HIGH" region.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	ATTTTCTTACCCACTGGCCTC	0.353													T	220203728	C	T	220203728	3	4	27	1	0	0	0	0	1	0	0	0	5191	637	22	4	4023	4	EPRS	1	220203728	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	10387	220203728	29046893	744	24695											
IARS2	55699	broad.mit.edu	37	chr1	220275602	220275602	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacagttgagaacttttTaccaaatgtatgataaggta	7	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:220275602T>C	uc001hmc.2	+	4	786	c.682T>C	c.(682-684)TAC>CAC	p.Y228H		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	228					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GAGAACTTTTTACCAAATGTA	0.303													C	220275602	T	C	220275602	3	2	27	1	0	0	0	0	1	0	0	0	7474	1754	61	3	696	3	IARS2	1	220275602	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	71874	220275602	28975019	745	24696											
IARS2	55699	broad.mit.edu	37	chr1	220279338	220279338	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaaggaacgggattggTtcacacagccccagctcatg	12	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:220279338T>C	uc001hmc.2	+	9	1276	c.1172T>C	c.(1171-1173)GTT>GCT	p.V391A		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	391					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ACGGGATTGGTTCACACAGCC	0.433													C	220279338	T	C	220279338	3	2	27	1	0	0	0	0	1	0	0	0	7474	1725	60	3	1206	3	IARS2	1	220279338	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3736	220279338	28971283	746	24697											
IARS2	55699	broad.mit.edu	37	chr1	220315249	220315249	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgctcccattcttcctcAcctggctgaagaggtgttcc	8	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:220315249A>G	uc001hmc.2	+	20	2623	c.2519A>G	c.(2518-2520)CAC>CGC	p.H840R	IARS2_uc001hmd.2_Missense_Mutation_p.H176R	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	840					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ATTCTTCCTCACCTGGCTGAA	0.383													G	220315249	A	G	220315249	3	3	27	1	0	0	0	0	1	0	0	0	7474	159	6	3	2597	3	IARS2	1	220315249	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	35911	220315249	28935372	747	24698											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220324707	220324707	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatttactagtttagctgtTgttgcaattggcacttcagt	8	6	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:220324707T>C	uc010puk.1	-	35	4232	c.4068A>G	c.(4066-4068)ACA>ACG	p.T1356T	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Silent_p.T936T|RAB3GAP2_uc001hmh.2_3'UTR	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	1356					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)		GTTTAGCTGTTGTTGCAATTG	0.378													C	220324707	T	C	220324707	2	2	27	1	0	0	0	0	0	0	0	1	12936	1799	63	3		3	RAB3GAP2	1	220324707	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9458	220324707	28925914	748	24699											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220325021	220325021	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccttcttttgtctgggtgTggagaagcgcatgagccagc	13	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:220325021T>C	uc010puk.1	-	34	4117	c.3953A>G	c.(3952-3954)CAC>CGC	p.H1318R	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.H898R|RAB3GAP2_uc001hmh.2_Missense_Mutation_p.H262R	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	1318					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)		TGTCTGGGTGTGGAGAAGCGC	0.517													C	220325021	T	C	220325021	3	2	27	1	0	0	0	0	1	0	0	0	12936	1696	59	3	236	3	RAB3GAP2	1	220325021	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	314	220325021	28925600	749	24700											
HLX	3142	broad.mit.edu	37	chr1	221053336	221053336	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaaagccctccttctgcaTcgcagacattctgcacgccg	7	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:221053336T>C	uc001hmv.3	+	1	594	c.137T>C	c.(136-138)ATC>ACC	p.I46T		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	46					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)		TCCTTCTGCATCGCAGACATT	0.716													C	221053336	T	C	221053336	3	2	27	1	0	0	0	0	1	0	0	0	7216	1435	50	3	139	3	HLX	1	221053336	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	728315	221053336	28197285	750	24701											
DUSP10	11221	broad.mit.edu	37	chr1	221879722	221879722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagctcgaggccgcggatgCgccgccccccacctcccggc	12	21	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:221879722C>T	uc001hmy.1	-	3	1080	c.898G>A	c.(898-900)GCA>ACA	p.A300T	DUSP10_uc001hmx.1_5'UTR|DUSP10_uc001hmz.1_5'UTR	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	300					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)		GCCGCGGATGCGCCGCCCCCC	0.577													T	221879722	C	T	221879722	3	4	27	1	0	0	0	0	1	0	0	0	4810	768	27	1	558	1	DUSP10	1	221879722	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	826386	221879722	27370899	751	24702											
DUSP10	11221	broad.mit.edu	37	chr1	221912385	221912385	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggtattctcatcataaacTataatttctttggaaaagat	5	5	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:221912385T>C	uc001hmy.1	-	2	884	c.702A>G	c.(700-702)ATA>ATG	p.I234M	DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	234	Rhodanese.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)		CATCATAAACTATAATTTCTT	0.488													C	221912385	T	C	221912385	3	2	27	1	0	0	0	0	1	0	0	0	4810	1512	53	3	758	3	DUSP10	1	221912385	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	32663	221912385	27338236	752	24703											
HHIPL2	79802	broad.mit.edu	37	chr1	222717326	222717326	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagggaagcaatagtccttgTcaggaaggtccaggaggtgg	16	6	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:222717326T>C	uc001hnh.1	-	2	585	c.527A>G	c.(526-528)GAC>GGC	p.D176G		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	176					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		ATAGTCCTTGTCAGGAAGGTC	0.587													C	222717326	T	C	222717326	3	2	27	1	0	0	0	0	1	0	0	0	7094	1667	58	3	1679	3	HHIPL2	1	222717326	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	804941	222717326	26533295	753	24704											
DISP1	84976	broad.mit.edu	37	chr1	223163983	223163983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagttatgcagccctgataGccgactggccggtggtggtc	15	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:223163983G>A	uc001hnu.1	+	4	703	c.556G>A	c.(556-558)GCC>ACC	p.A186T		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	186					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		AGCCCTGATAGCCGACTGGCC	0.502													A	223163983	G	A	223163983	3	1	27	1	0	0	0	0	1	0	0	0	4539	971	34	2	566	2	DISP1	1	223163983	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	446657	223163983	26086638	754	24705											
TLR5	7100	broad.mit.edu	37	chr1	223285929	223285929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttttggatagatccaagcGagttaaagcctttaaatttc	7	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:223285929G>A	uc001hnv.1	-	4	891	c.445C>T	c.(445-447)CGC>TGC	p.R149C	TLR5_uc001hnw.1_Missense_Mutation_p.R149C	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	149	LRR 3.|Extracellular (Potential).				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)		AGATCCAAGCGAGTTAAAGCC	0.368													A	223285929	G	A	223285929	3	1	27	1	0	0	0	0	1	0	0	0	15951	1058	37	1	2135	1	TLR5	1	223285929	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	121946	223285929	25964692	755	24706											
TP53BP2	7159	broad.mit.edu	37	chr1	223971921	223971921	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgattgtcatgcagtctcCttctttcatgggcagctcat	9	10	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:223971921C>A	uc010pvb.1	-	17	3551	c.3259G>T	c.(3259-3261)GGA>TGA	p.G1087*	TP53BP2_uc001hod.2_Nonsense_Mutation_p.G958*|TP53BP2_uc010puz.1_Nonsense_Mutation_p.G320*|TP53BP2_uc010pva.1_Nonsense_Mutation_p.G726*	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	1081	Mediates interaction with APC2.|SH3.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		ATGCAGTCTCCTTCTTTCATG	0.443													A	223971921	C	A	223971921	4	1	27	1	0	0	0	0	0	1	0	0	16381	690	24	5	153	5	TP53BP2	1	223971921	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	685992	223971921	25278700	756	24707											
FBXO28	23219	broad.mit.edu	37	chr1	224340859	224340859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaggtgattgatgagattTatcgtgtgttgagatatgtc	12	2	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:224340859T>C	uc001hoh.2	+	4	573	c.532T>C	c.(532-534)TAT>CAT	p.Y178H	FBXO28_uc009xef.2_Intron|FBXO28_uc010pvc.1_5'UTR	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	F-box protein 28 isoform a	178										ovary(2)|kidney(2)|lung(1)	5	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		TGATGAGATTTATCGTGTGTT	0.343													C	224340859	T	C	224340859	3	2	27	1	0	0	0	0	1	0	0	0	5738	1754	61	3	546	3	FBXO28	1	224340859	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	368938	224340859	24909762	757	24708											
CNIH4	29097	broad.mit.edu	37	chr1	224559058	224559058	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaatcgagggcagctgaagTcacacatgaaagaagccatg	11	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:224559058T>C	uc001hom.1	+	4	357	c.325T>C	c.(325-327)TCA>CCA	p.S109P	CNIH4_uc001hon.1_Intron	NM_014184	NP_054903	Q9P003	CNIH4_HUMAN	cornichon homolog 4	109					intracellular signal transduction	endoplasmic reticulum|integral to membrane	protein binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.00341)		GCAGCTGAAGTCACACATGAA	0.398													C	224559058	T	C	224559058	3	2	27	1	0	0	0	0	1	0	0	0	3605	1667	58	3	339	3	CNIH4	1	224559058	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	218199	224559058	24691563	758	24709											
WDR26	80232	broad.mit.edu	37	chr1	224599216	224599216	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaatttacagaaccacacTtcattacaatgctccgtaag	6	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:224599216T>C	uc001hop.3	-	7	996	c.630A>G	c.(628-630)GAA>GAG	p.E210E	WDR26_uc001hoq.3_Silent_p.E194E|WDR26_uc010pvh.1_5'UTR	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	WD repeat domain 26 isoform a	357	WD 1.					cytoplasm|nucleus					0				GBM - Glioblastoma multiforme(131;0.0104)		AGAACCACACTTCATTACAAT	0.378													C	224599216	T	C	224599216	2	2	27	1	0	0	0	0	0	0	0	1	17280	1606	56	3		3	WDR26	1	224599216	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	40158	224599216	24651405	759	24710											
CNIH3	149111	broad.mit.edu	37	chr1	224804931	224804931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctctggtgctgtgcgctGcgctcatcttcttcgccatc	10	14	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:224804931G>A	uc001hos.1	+	1	753	c.55G>A	c.(55-57)GCG>ACG	p.A19T		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	cornichon homolog 3	19	Helical; (Potential).				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane					0	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		GCTGTGCGCTGCGCTCATCTT	0.557													A	224804931	G	A	224804931	3	1	27	1	0	0	0	0	1	0	0	0	3604	1319	46	2	57	2	CNIH3	1	224804931	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	205715	224804931	24445690	760	24711											
EPHX1	2052	broad.mit.edu	37	chr1	226030158	226030158	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggaattccgatacctggaGgatggaggcctggaaaggtg	16	7	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:226030158G>T	uc001hpk.2	+	7	1103	c.1023G>T	c.(1021-1023)GAG>GAT	p.E341D	EPHX1_uc001hpl.2_Missense_Mutation_p.E341D	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	epoxide hydrolase 1	341					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			ovary(3)|lung(1)	4	Breast(184;0.197)					GATACCTGGAGGATGGAGGCC	0.572													T	226030158	G	T	226030158	3	4	27	1	0	0	0	0	1	0	0	0	5179	991	35	5	1045	5	EPHX1	1	226030158	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1225227	226030158	23220463	761	24712											
PARP1	142	broad.mit.edu	37	chr1	226550840	226550840	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtaacttgctgatatgTgaagcgtgcttcagttcata	11	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:226550840T>C	uc001hqd.3	-	21	2979	c.2808A>G	c.(2806-2808)TCA>TCG	p.S936S		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	936	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TGCTGATATGTGAAGCGTGCT	0.483								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					C	226550840	T	C	226550840	2	2	27	1	0	0	0	0	0	0	0	1	11454	1683	59	3		3	PARP1	1	226550840	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	520682	226550840	22699781	762	24713											
PARP1	142	broad.mit.edu	37	chr1	226578278	226578278	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcggtcaatcatgcctagCtgtggcttctccgggtccac	11	14	3	0	rs142376976		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:226578278C>T	uc001hqd.3	-	4	621	c.450G>A	c.(448-450)CAG>CAA	p.Q150Q		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	150	PARP-type 2.|				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCATGCCTAGCTGTGGCTTCT	0.567								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					T	226578278	C	T	226578278	2	4	27	1	0	0	0	0	0	0	0	1	11454	796	28	2		2	PARP1	1	226578278	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	27438	226578278	22672343	763	24714											
CABC1	56997	broad.mit.edu	37	chr1	227152890	227152890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgcctacgtggccagtGgaccctttagagaagccggg	13	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:227152890G>A	uc001hqm.1	+	8	3786	c.367G>A	c.(367-369)GGA>AGA	p.G123R	CABC1_uc010pvp.1_Missense_Mutation_p.G86R|CABC1_uc001hqn.1_Missense_Mutation_p.G123R|CABC1_uc009xeq.1_Missense_Mutation_p.G71R|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_5'Flank	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	123					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				CGTGGCCAGTGGACCCTTTAG	0.652													A	227152890	G	A	227152890	3	1	27	1	0	0	0	0	1	0	0	0	2527	1349	47	4	373	4	CABC1	1	227152890	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	574612	227152890	22097731	764	24715											
ZNF678	339500	broad.mit.edu	37	chr1	227843127	227843127	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaacaagttctcaagcctTactcaacataggagaattca	5	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:227843127T>C	uc001hqw.1	+	4	1521	c.1176T>C	c.(1174-1176)CTT>CTC	p.L392L	ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	447					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			pancreas(1)	1		Prostate(94;0.0885)				TCTCAAGCCTTACTCAACATA	0.383													C	227843127	T	C	227843127	2	2	27	1	0	0	0	0	0	0	0	1	18082	1741	61	3		3	ZNF678	1	227843127	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	690237	227843127	21407494	765	24716											
SNAP47	116841	broad.mit.edu	37	chr1	227935786	227935786	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagacgcatctgtcccaaggAcccggggcgaggagctgacg	15	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:227935786A>G	uc001hrf.2	+	2	898	c.484A>G	c.(484-486)ACC>GCC	p.T162A	SNAP47_uc001hqz.2_Missense_Mutation_p.T117A|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_Missense_Mutation_p.T162A|SNAP47_uc001hre.2_Intron|SNAP47_uc001hrg.1_Missense_Mutation_p.T117A	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	162	t-SNARE coiled-coil homology 1.					endomembrane system|membrane|perinuclear region of cytoplasm				ovary(1)	1						TGTCCCAAGGACCCGGGGCGA	0.637													G	227935786	A	G	227935786	3	3	27	1	0	0	0	0	1	0	0	0	14832	275	10	3	490	3	SNAP47	1	227935786	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	92659	227935786	21314835	766	24717											
C1orf69	200205	broad.mit.edu	37	chr1	228362488	228362488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgcgctatacaggatccGgcggaaggtcacggtggagc	15	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:228362488G>A	uc001hsl.3	+	2	526	c.437G>A	c.(436-438)CGG>CAG	p.R146Q	C1orf69_uc010pvw.1_5'UTR	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	hypothetical protein LOC200205 precursor	146					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity				0		Prostate(94;0.0405)				TACAGGATCCGGCGGAAGGTC	0.667													A	228362488	G	A	228362488	3	1	27	1	0	0	0	0	1	0	0	0	2057	1116	39	1	443	1	C1orf69	1	228362488	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	426702	228362488	20888133	767	24718											
OBSCN	84033	broad.mit.edu	37	chr1	228431128	228431128	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagctgcgaggccaggggCcagagggtctccttccgcct	14	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:228431128C>T	uc009xez.1	+	10	3218	c.3174C>T	c.(3172-3174)GGC>GGT	p.G1058G	OBSCN_uc001hsn.2_Silent_p.G1058G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1058	Ig-like 10.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGGCCAGGGGCCAGAGGGTCT	0.557													T	228431128	C	T	228431128	2	4	27	1	0	0	0	0	0	0	0	1	10812	726	26	2		2	OBSCN	1	228431128	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	68640	228431128	20819493	768	24719											
OBSCN	84033	broad.mit.edu	37	chr1	228466627	228466627	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtgacgccggtgatgTcaagaccagtgcacagttct	11	12	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:228466627T>C	uc009xez.1	+	26	7141	c.7097T>C	c.(7096-7098)GTC>GCC	p.V2366A	OBSCN_uc001hsn.2_Missense_Mutation_p.V2366A|OBSCN_uc001hsp.1_Missense_Mutation_p.V65A|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2366	Ig-like 23.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCCGGTGATGTCAAGACCAGT	0.582													C	228466627	T	C	228466627	3	2	27	1	0	0	0	0	1	0	0	0	10812	1667	58	3	7195	3	OBSCN	1	228466627	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	35499	228466627	20783994	769	24720											
OBSCN	84033	broad.mit.edu	37	chr1	228468349	228468349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgtggcgcaaagatggCgtgcagctgggccccagtga	18	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:228468349C>T	uc009xez.1	+	30	8093	c.8049C>T	c.(8047-8049)GGC>GGT	p.G2683G	OBSCN_uc001hsn.2_Silent_p.G2683G|OBSCN_uc001hsp.1_Silent_p.G382G|OBSCN_uc001hsq.1_5'UTR	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2683	Ig-like 26.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCAAAGATGGCGTGCAGCTGG	0.657													T	228468349	C	T	228468349	2	4	27	1	0	0	0	0	0	0	0	1	10812	755	27	1		1	OBSCN	1	228468349	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1722	228468349	20782272	770	24721											
OBSCN	84033	broad.mit.edu	37	chr1	228476538	228476538	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggcagatgctggggagTactcctgtgtgtgtggggag	19	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:228476538T>C	uc009xez.1	+	38	10332	c.10288T>C	c.(10288-10290)TAC>CAC	p.Y3430H	OBSCN_uc001hsn.2_Missense_Mutation_p.Y3430H|OBSCN_uc001hsq.1_Missense_Mutation_p.Y686H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3430	Ig-like 34.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TGCTGGGGAGTACTCCTGTGT	0.617													C	228476538	T	C	228476538	3	2	27	1	0	0	0	0	1	0	0	0	10812	1638	57	3	10434	3	OBSCN	1	228476538	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	8189	228476538	20774083	771	24722											
OBSCN	84033	broad.mit.edu	37	chr1	228476571	228476571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggaggagaggacctctGccactctcaccgtgaagggt	16	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:228476571G>A	uc009xez.1	+	38	10365	c.10321G>A	c.(10321-10323)GCC>ACC	p.A3441T	OBSCN_uc001hsn.2_Missense_Mutation_p.A3441T|OBSCN_uc001hsq.1_Missense_Mutation_p.A697T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3441	Ig-like 34.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GAGGACCTCTGCCACTCTCAC	0.617													A	228476571	G	A	228476571	3	1	27	1	0	0	0	0	1	0	0	0	10812	1319	46	2	10467	2	OBSCN	1	228476571	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	33	228476571	20774050	772	24723											
OBSCN	84033	broad.mit.edu	37	chr1	228482590	228482590	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccccgtggagtggaggaaGgggtctgagaccctcagagg	18	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:228482590G>T	uc009xez.1	+	43	11549	c.11505G>T	c.(11503-11505)AAG>AAT	p.K3835N	OBSCN_uc001hsn.2_Missense_Mutation_p.K3835N|OBSCN_uc001hsq.1_Missense_Mutation_p.K1091N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3835	Ig-like 39.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGTGGAGGAAGGGGTCTGAGA	0.597													T	228482590	G	T	228482590	3	4	27	1	0	0	0	0	1	0	0	0	10812	991	35	5	11671	5	OBSCN	1	228482590	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	6019	228482590	20768031	773	24724											
OBSCN	84033	broad.mit.edu	37	chr1	228523973	228523973	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggtgggcagaggaaaggTacagtcagggtgggtgcatg	19	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:228523973T>C	uc009xez.1	+	64	16581	c.16537_splice	c.e64+2	p.E5513_splice	OBSCN_uc001hsn.2_Splice_Site_p.E5513_splice|OBSCN_uc001hsr.1_Splice_Site_p.E141_splice	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and						apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGAGGAAAGGTACAGTCAGGG	0.612													C	228523973	T	C	228523973	5	2	27	1	0	0	0	0	0	0	1	0	10812	1652	57	3	16789	3	OBSCN	1	228523973	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	41383	228523973	20726648	774	24725											
OBSCN	84033	broad.mit.edu	37	chr1	228524766	228524766	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcgctgaggtgggcacagaGgagttcctgcagaaactgac	14	10	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:228524766G>T	uc009xez.1	+	65	16643	c.16599G>T	c.(16597-16599)GAG>GAT	p.E5533D	OBSCN_uc001hsn.2_Missense_Mutation_p.E5533D|OBSCN_uc001hsr.1_Missense_Mutation_p.E161D	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5533					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TGGGCACAGAGGAGTTCCTGC	0.637													T	228524766	G	T	228524766	3	4	27	1	0	0	0	0	1	0	0	0	10812	991	35	5	16853	5	OBSCN	1	228524766	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	793	228524766	20725855	775	24726											
RHOU	58480	broad.mit.edu	37	chr1	228879123	228879123	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcccctcatccttccagaAcgtcagtgagaaatgggtgc	11	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:228879123A>C	uc001htf.2	+	3	1034	c.413A>C	c.(412-414)AAC>ACC	p.N138T		NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	ras homolog gene family, member U	138					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding				0	Breast(184;0.162)	Prostate(94;0.183)				TCCTTCCAGAACGTCAGTGAG	0.522													C	228879123	A	C	228879123	3	2	27	1	0	0	0	0	1	0	0	0	13345	43	2	5	423	5	RHOU	1	228879123	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	354357	228879123	20371498	776	24727											
RAB4A	5867	broad.mit.edu	37	chr1	229431635	229431637	+	In_Frame_Del	DEL	CTC	CTC	-													accgaggcgcggccggggctCtcctcgtctatgatatcacc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:229431634_229431636TCTC>T	uc001hth.3	+	3	475_477	c.267_269TCTC>T	c.(265-270)gctctc>gcTc	p.L91del		NM_004578	NP_004569	P20338	RAB4A_HUMAN	Homo sapiens RAB4A, member RAS oncogene family (RAB4A), mRNA.	86							GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				CGGCCGGGGCTCTCCTCGTCTAT	0.547													-	229431637	CTC	-	229431635	7	5	27	1	0	1	0	1	0	0	0	0	12946	913	32	0	282	0	RAB4A	1	229431635	In_Frame_Del	DEL	CTC	TCGA-BR-6452-01A-12D-1800-08	552512	229431635	19818986	777	24728											
RAB4A	5867	broad.mit.edu	37	chr1	229433272	229433272	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaattggttaacagatgccCgaatgctagcgagccagaac	10	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:229433272C>T	uc001hth.2	+	5	542	c.334C>T	c.(334-336)CGA>TGA	p.R112*	RAB4A_uc001hti.2_RNA|RAB4A_uc001htj.2_RNA	NM_004578	NP_004569	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	107							GDP binding|GTP binding|GTPase activity			ovary(1)	1	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				AACAGATGCCCGAATGCTAGC	0.398													T	229433272	C	T	229433272	4	4	27	1	0	0	0	0	0	1	0	0	12946	644	23	1	352	1	RAB4A	1	229433272	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1637	229433272	19817349	778	24729											
ABCB10	23456	broad.mit.edu	37	chr1	229666069	229666069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaaatcctgaaatatggGcacctctgggcgagctggat	13	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:229666069G>A	uc001htp.3	-	8	1565	c.1522C>T	c.(1522-1524)CCC>TCC	p.P508S		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	508	Mitochondrial intermembrane (Potential).|ABC transporter.|Mitochondrial matrix (Potential).					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TGAAATATGGGCACCTCTGGG	0.478													A	229666069	G	A	229666069	3	1	27	1	0	0	0	0	1	0	0	0	41	1203	42	2	718	2	ABCB10	1	229666069	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	232797	229666069	19584552	779	24730											
ABCB10	23456	broad.mit.edu	37	chr1	229683280	229683280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacggaagcctgggccccgGccctgagcccatctgagagg	14	15	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:229683280G>A	uc001htp.3	-	3	930	c.887C>T	c.(886-888)GCC>GTC	p.A296V		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	296	Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential).|ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CTGGGCCCCGGCCCTGAGCCC	0.577													A	229683280	G	A	229683280	3	1	27	1	0	0	0	0	1	0	0	0	41	1203	42	2	1373	2	ABCB10	1	229683280	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	17211	229683280	19567341	780	24731											
PGBD5	79605	broad.mit.edu	37	chr1	230492723	230492723	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccttgtagagcccgtgcgTggtctggctggagcggaagg	18	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:230492723T>C	uc010pwb.1	-	2	469	c.469A>G	c.(469-471)ACG>GCG	p.T157A	PGBD5_uc001htv.2_Missense_Mutation_p.T256A	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	157						integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AGCCCGTGCGTGGTCTGGCTG	0.622													C	230492723	T	C	230492723	3	2	27	1	0	0	0	0	1	0	0	0	11784	1696	59	3	922	3	PGBD5	1	230492723	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	809443	230492723	18757898	781	24732											
COG2	22796	broad.mit.edu	37	chr1	230814715	230814715	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacggcagtgtggatcacaGgctagtgtaaagagattaag	14	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:230814715G>T	uc001htw.2	+	10	1234	c.1083G>T	c.(1081-1083)CAG>CAT	p.Q361H	COG2_uc001htx.2_Missense_Mutation_p.Q361H|COG2_uc010pwc.1_Missense_Mutation_p.Q234H	NM_007357	NP_031383	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2 isoform	361					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GTGGATCACAGGCTAGTGTAA	0.348													T	230814715	G	T	230814715	3	4	27	1	0	0	0	0	1	0	0	0	3658	991	35	5	1121	5	COG2	1	230814715	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	321992	230814715	18435906	782	24733											
C1orf198	84886	broad.mit.edu	37	chr1	230979489	230979489	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccttcctggtggggcCcagggcgtccaggctggagg	16	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:230979489C>A	uc001hub.2	-	3	582	c.538G>T	c.(538-540)GGC>TGC	p.G180C	C1orf198_uc009xfh.1_Missense_Mutation_p.G50C|C1orf198_uc001huc.1_5'UTR|C1orf198_uc001hud.1_Missense_Mutation_p.G142C	NM_032800	NP_116189	Q9H425	CA198_HUMAN	hypothetical protein LOC84886 isoform 1	180											0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CTGGTGGGGCCCAGGGCGTCC	0.667													A	230979489	C	A	230979489	3	1	27	1	0	0	0	0	1	0	0	0	2026	623	22	5	453	5	C1orf198	1	230979489	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	164774	230979489	18271132	783	24734											
C1orf198	84886	broad.mit.edu	37	chr1	230979510	230979510	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggcgtccaggctggaggAcctgctgccttgggaggact	17	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:230979510A>G	uc001hub.2	-	3	561	c.517T>C	c.(517-519)TCC>CCC	p.S173P	C1orf198_uc009xfh.1_Missense_Mutation_p.S43P|C1orf198_uc001huc.1_5'UTR|C1orf198_uc001hud.1_Missense_Mutation_p.S135P	NM_032800	NP_116189	Q9H425	CA198_HUMAN	hypothetical protein LOC84886 isoform 1	173											0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				AGGCTGGAGGACCTGCTGCCT	0.672													G	230979510	A	G	230979510	3	3	27	1	0	0	0	0	1	0	0	0	2026	275	10	3	474	3	C1orf198	1	230979510	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	21	230979510	18271111	784	24735											
TTC13	79573	broad.mit.edu	37	chr1	231069604	231069604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttgaaggattcaatagCttcctataaaaagtgtagag	8	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:231069604C>T	uc001huf.3	-	9	935	c.904G>A	c.(904-906)GCT>ACT	p.A302T	TTC13_uc009xfi.2_Missense_Mutation_p.A249T|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.A249T|TTC13_uc009xfk.1_Missense_Mutation_p.A192T	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	302	TPR 4.						binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		GATTCAATAGCTTCCTATAAA	0.279													T	231069604	C	T	231069604	3	4	27	1	0	0	0	0	1	0	0	0	16677	797	28	2	1738	2	TTC13	1	231069604	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	90094	231069604	18181017	785	24736											
TRIM67	440730	broad.mit.edu	37	chr1	231337179	231337179	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcgccctggagccgaaagtgTctgcggagtttgatctgact	14	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:231337179T>A	uc009xfn.1	+	5	1492	c.1450T>A	c.(1450-1452)TCT>ACT	p.S484T		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	484	COS.					cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GCCGAAAGTGTCTGCGGAGTT	0.557													A	231337179	T	A	231337179	3	1	27	1	0	0	0	0	1	0	0	0	16537	1667	58	5	1468	5	TRIM67	1	231337179	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	267575	231337179	17913442	786	24737											
EGLN1	54583	broad.mit.edu	37	chr1	231556926	231556926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggctgaccagctgcccgtCcgtgaacttcccggtgtcgt	12	15	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:231556926C>T	uc001huv.2	-	1	3865	c.709G>A	c.(709-711)GAC>AAC	p.D237N	EGLN1_uc001huu.3_5'Flank	NM_022051	NP_071334	Q9GZT9	EGLN1_HUMAN	egl nine homolog 1	237					negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding				0		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	AGCTGCCCGTCCGTGAACTTC	0.627													T	231556926	C	T	231556926	3	4	27	1	0	0	0	0	1	0	0	0	4968	855	30	4	591	4	EGLN1	1	231556926	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	219747	231556926	17693695	787	24738											
DISC1	27185	broad.mit.edu	37	chr1	231906664	231906664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaaatagaggagcaagaGcagcaactccagtggcaggg	16	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:231906664G>A	uc001huz.2	+	6	1535	c.1482G>A	c.(1480-1482)GAG>GAA	p.E494E	TSNAX-DISC1_uc010pwg.1_Silent_p.E483E|TSNAX-DISC1_uc010pwh.1_Silent_p.E449E|TSNAX-DISC1_uc010pwi.1_Silent_p.E449E|TSNAX-DISC1_uc010pwj.1_Silent_p.E483E|TSNAX-DISC1_uc010pwk.1_Silent_p.E483E|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwq.1_Silent_p.E494E|DISC1_uc010pwr.1_Silent_p.E494E|DISC1_uc010pws.1_Silent_p.E494E|DISC1_uc010pwt.1_Silent_p.E494E|DISC1_uc010pwu.1_Silent_p.E144E|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Silent_p.E494E|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Silent_p.E494E|DISC1_uc010pxb.1_Silent_p.E494E|DISC1_uc010pxc.1_Silent_p.E494E|DISC1_uc010pxd.1_Silent_p.E139E|DISC1_uc010pxe.1_Silent_p.E494E|DISC1_uc009xfr.2_Silent_p.E449E|DISC1_uc010pxf.1_Silent_p.E494E|DISC1_uc010pxg.1_Silent_p.E494E|DISC1_uc010pxh.1_Silent_p.E526E|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Silent_p.E139E|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Intron|DISC1_uc010pxn.1_Silent_p.E139E|DISC1_uc001hva.2_Silent_p.E494E	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	494	Potential.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with TRAF3IP1.|Required for localization to punctate cytoplasmic foci.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)				AGGAGCAAGAGCAGCAACTCC	0.562													A	231906664	G	A	231906664	2	1	27	1	0	0	0	0	0	0	0	1	4538	962	34	2		2	DISC1	1	231906664	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	349738	231906664	17343957	788	24739											
SIPA1L2	57568	broad.mit.edu	37	chr1	232539873	232539873	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagccccagacaatcacctAgataggacgtgtggtgacag	12	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:232539873A>G	uc001hvg.2	-	18	4972	c.4814T>C	c.(4813-4815)CTA>CCA	p.L1605P	SIPA1L2_uc001hvf.2_Intron	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1605					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACAATCACCTAGATAGGACGT	0.453													G	232539873	A	G	232539873	3	3	27	1	0	0	0	0	1	0	0	0	14330	420	15	3	370	3	SIPA1L2	1	232539873	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	633209	232539873	16710748	789	24740											
KIAA1383	54627	broad.mit.edu	37	chr1	232942838	232942838	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaagttaaactattaagctCtgcagaacaaagtcagaagc	7	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:232942838C>A	uc001hvh.2	+	1	2201	c.2069C>A	c.(2068-2070)TCT>TAT	p.S690Y		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	hypothetical protein LOC54627	548										ovary(1)	1		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				CTATTAAGCTCTGCAGAACAA	0.348													A	232942838	C	A	232942838	3	1	27	1	0	0	0	0	1	0	0	0	8228	913	32	5	2071	5	KIAA1383	1	232942838	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	402965	232942838	16307783	790	24741											
KIAA1383	54627	broad.mit.edu	37	chr1	232942991	232942991	+	Frame_Shift_Del	DEL	A	A	-													taaactgaaatatgcaactgAaaaaaagacagttgattgta							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:232942990_232942990GA>G	uc001hvh.2	+	0	2353	c.2221_2221GA>G	c.(2221-2223)gaafs	p.E741fs		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	599	Ser-rich.									breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				ATATGCAACTGAAAAAAAGAC	0.348													-	232942991	A	-	232942991	7	5	27	1	0	1	0	1	0	0	0	0	8228	246	9	0	2224	0	KIAA1383	1	232942991	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	153	232942991	16307630	791	24742											
C1orf57	84284	broad.mit.edu	37	chr1	233091413	233091413	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacagggagggagaagaataGgattcgatgtcgtcacgttg	16	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:233091413G>T	uc001hvj.1	+	2	232	c.145G>T	c.(145-147)GGA>TGA	p.G49*	C1orf57_uc001hvi.2_Nonsense_Mutation_p.G49*|C1orf57_uc009xft.1_Intron	NM_032324	NP_115700	Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase C1orf57	49							ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity				0		all_cancers(173;0.0818)|Prostate(94;0.137)				GAGAAGAATAGGATTCGATGT	0.453													T	233091413	G	T	233091413	4	4	27	1	0	0	0	0	0	1	0	0	2049	1001	35	5	151	5	C1orf57	1	233091413	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	148422	233091413	16159208	792	24743											
RBM34	23029	broad.mit.edu	37	chr1	235323841	235323841	+	Missense_Mutation	SNP	T	T	C													ccaacctgtctgccaactttTtttctgcgttagtgtgtttc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:235323841T>C	uc001hwn.2	-	3	380	c.350A>G	c.(349-351)AAA>AGA	p.K117R	RBM34_uc001hwo.2_Intron|ARID4B_uc001hwp.2_RNA|RBM34_uc010pxp.1_Missense_Mutation_p.K117R	NM_015014	NP_055829	P42696	RBM34_HUMAN	RNA binding motif protein 34 isoform 1	117						nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TGCCAACTTTTTTTCTGCGTT	0.353													C	235323841	T	C	235323841	3	2	27	1	0	0	0	0	1	0	0	0	13131	1841	64	3	999	3	RBM34	1	235323841	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2232428	235323841	13926780	793	24744	80	2									
RBM34	23029	broad.mit.edu	37	chr1	235323849	235323849	+	Silent	SNP	G	G	A													tctgccaactttttttctgcGttagtgtgtttcttcttcgc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:235323849G>A	uc001hwn.2	-	3	372	c.342C>T	c.(340-342)AAC>AAT	p.N114N	RBM34_uc001hwo.2_Intron|ARID4B_uc001hwp.2_RNA|RBM34_uc010pxp.1_Silent_p.N114N	NM_015014	NP_055829	P42696	RBM34_HUMAN	RNA binding motif protein 34 isoform 1	114						nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TTTTTTCTGCGTTAGTGTGTT	0.363													A	235323849	G	A	235323849	2	1	27	1	0	0	0	0	0	0	0	1	13131	1136	40	1		1	RBM34	1	235323849	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	8	235323849	13926772	794	24745	80	2									
ARID4B	51742	broad.mit.edu	37	chr1	235345219	235345219	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaattctgcttttctgtcAttgacctctactgttttttc	6	9	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:235345219A>C	uc001hwq.2	-	20	3513	c.3015T>G	c.(3013-3015)AAT>AAG	p.N1005K	ARID4B_uc001hwr.2_Missense_Mutation_p.N919K|ARID4B_uc001hws.3_Missense_Mutation_p.N919K|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.N686K	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	1005					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CTTTTCTGTCATTGACCTCTA	0.428													C	235345219	A	C	235345219	3	2	27	1	0	0	0	0	1	0	0	0	920	214	8	5	943	5	ARID4B	1	235345219	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	21370	235345219	13905402	795	24746											
ARID4B	51742	broad.mit.edu	37	chr1	235377281	235377281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcctcttcttcttcttcCtcctcctcctcctcttctgc	1	20	7	0	rs113894806		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:235377281C>T	uc001hwq.2	-	17	2142	c.1644G>A	c.(1642-1644)GAG>GAA	p.E548E	ARID4B_uc001hwr.2_Intron|ARID4B_uc001hws.3_Intron|ARID4B_uc001hwt.3_Silent_p.E229E	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	548	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			cttcttcttcctcctcctcct	0.249													T	235377281	C	T	235377281	2	4	27	1	0	0	0	0	0	0	0	1	920	680	24	4		4	ARID4B	1	235377281	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	32062	235377281	13873340	796	24747											
ARID4B	51742	broad.mit.edu	37	chr1	235377332	235377332	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttcatcttcttctttattCgtttcatctcttgaaaggtt	4	9	7	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:235377332C>T	uc001hwq.2	-	17	2091	c.1593G>A	c.(1591-1593)ACG>ACA	p.T531T	ARID4B_uc001hwr.2_Intron|ARID4B_uc001hws.3_Intron|ARID4B_uc001hwt.3_Silent_p.T212T	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	531	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			cttcttTATTCGTTTCATCTC	0.199													T	235377332	C	T	235377332	2	4	27	1	0	0	0	0	0	0	0	1	920	871	31	1		1	ARID4B	1	235377332	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	51	235377332	13873289	797	24748											
LYST	1130	broad.mit.edu	37	chr1	235920623	235920623	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctggtgatgggtggttaacGaggaccaaaagtgtatctgc	15	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:235920623G>A	uc001hxj.2	-	24	7192	c.7017C>T	c.(7015-7017)CTC>CTT	p.L2339L		NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2339					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGTGGTTAACGAGGACCAAAA	0.333									Chediak-Higashi_syndrome				A	235920623	G	A	235920623	2	1	27	1	0	0	0	0	0	0	0	1	9128	1045	37	1		1	LYST	1	235920623	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	543291	235920623	13329998	798	24749											
LYST	1130	broad.mit.edu	37	chr1	235922861	235922861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctagaacgcagcatatgggCggccatctgttgtggaataa	12	8	2	1	rs146091043	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:235922861C>T	uc001hxj.2	-	23	6467	c.6292G>A	c.(6292-6294)GCC>ACC	p.A2098T	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2098					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGCATATGGGCGGCCATCTGT	0.398									Chediak-Higashi_syndrome				T	235922861	C	T	235922861	3	4	27	1	0	0	0	0	1	0	0	0	9128	768	27	1	5237	1	LYST	1	235922861	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2238	235922861	13327760	799	24750											
LYST	1130	broad.mit.edu	37	chr1	235972663	235972664	+	Frame_Shift_Ins	INS	-	-	T													gaagttgctctgatttcactINStttttgacagtgctcattat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:235972662_235972663C>CT	uc001hxj.2	-	4	1630_1631	c.1455_1456G>AG	c.(1453-1458)aaagtgfs	p.K485fs	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Frame_Shift_Ins_p.K485fs	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	485					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCTGATTTCACTTTTTTGACAG	0.401													T	235972664	-	T	235972663	7	5	27	1	0	1	1	0	0	0	0	0	9128	1606	56	0	10146	0	LYST	1	235972663	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	49802	235972663	13277958	800	24751											
HEATR1	55127	broad.mit.edu	37	chr1	236751266	236751266	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcaaaagcacttatagcCgacaaaacaacatctatatt	3	11	2	0	rs146109914	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:236751266C>T	uc001hyd.1	-	13	1733	c.1608G>A	c.(1606-1608)TCG>TCA	p.S536S		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	536					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CACTTATAGCCGACAAAACAA	0.353													T	236751266	C	T	236751266	2	4	27	1	0	0	0	0	0	0	0	1	7027	639	23	1		1	HEATR1	1	236751266	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	778603	236751266	12499355	801	24752											
ACTN2	88	broad.mit.edu	37	chr1	236920856	236920856	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgaggtggagactcagaTcctgacgagagatgcgaagg	15	7	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:236920856T>C	uc001hyf.2	+	18	2429	c.2225T>C	c.(2224-2226)ATC>ACC	p.I742T	ACTN2_uc001hyg.2_Missense_Mutation_p.I534T|ACTN2_uc009xgi.1_Missense_Mutation_p.I742T|ACTN2_uc010pxu.1_Missense_Mutation_p.I431T|ACTN2_uc001hyh.2_Missense_Mutation_p.I430T	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	742					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGACTCAGATCCTGACGAGA	0.498													C	236920856	T	C	236920856	3	2	27	1	0	0	0	0	1	0	0	0	205	1435	50	3	2295	3	ACTN2	1	236920856	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	169590	236920856	12329765	802	24753											
MTR	4548	broad.mit.edu	37	chr1	237001790	237001790	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaagggaagtgcattgTcaatagcattagtctgaagg	12	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:237001790T>C	uc001hyi.3	+	15	1829	c.1406T>C	c.(1405-1407)GTC>GCC	p.V469A	MTR_uc010pxw.1_Missense_Mutation_p.V62A|MTR_uc010pxx.1_Missense_Mutation_p.V469A|MTR_uc010pxy.1_Missense_Mutation_p.V469A	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	469	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AAGTGCATTGTCAATAGCATT	0.443													C	237001790	T	C	237001790	3	2	27	1	0	0	0	0	1	0	0	0	9958	1667	58	3	1464	3	MTR	1	237001790	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	80934	237001790	12248831	803	24754											
MTR	4548	broad.mit.edu	37	chr1	237049633	237049633	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcaagccagaaaaagtggTttccaaatggattggctgtc	11	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:237049633T>C	uc001hyi.3	+	27	3240	c.2817T>C	c.(2815-2817)GGT>GGC	p.G939G	MTR_uc010pxw.1_Silent_p.G532G|MTR_uc010pxx.1_Silent_p.G888G|MTR_uc010pxy.1_Silent_p.G793G	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	939	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GAAAAAGTGGTTTCCAAATGG	0.408													C	237049633	T	C	237049633	2	2	27	1	0	0	0	0	0	0	0	1	9958	1712	60	3		3	MTR	1	237049633	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	47843	237049633	12200988	804	24755											
MTR	4548	broad.mit.edu	37	chr1	237057735	237057735	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccttgcattctggcatccgtGactacctgggcctgtttgcc	10	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:237057735G>A	uc001hyi.3	+	30	3706	c.3283G>A	c.(3283-3285)GAC>AAC	p.D1095N	MTR_uc010pxw.1_Missense_Mutation_p.D688N|MTR_uc010pxx.1_Missense_Mutation_p.D1044N|MTR_uc010pxy.1_Missense_Mutation_p.D949N	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	1095	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TGGCATCCGTGACTACCTGGG	0.542													A	237057735	G	A	237057735	3	1	27	1	0	0	0	0	1	0	0	0	9958	1290	45	4	3401	4	MTR	1	237057735	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	8102	237057735	12192886	805	24756											
RYR2	6262	broad.mit.edu	37	chr1	237608788	237608788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgcacagcccgagttatcCggagcacagtcttccttttc	8	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:237608788C>T	uc001hyl.1	+	14	1378	c.1258C>T	c.(1258-1260)CGG>TGG	p.R420W		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	420	Cytoplasmic (By similarity).		R -> W (in CPVT1).		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCGAGTTATCCGGAGCACAGT	0.388													T	237608788	C	T	237608788	3	4	27	1	0	0	0	0	1	0	0	0	13769	643	23	1	1312	1	RYR2	1	237608788	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	551053	237608788	11641833	806	24757											
RYR2	6262	broad.mit.edu	37	chr1	237660039	237660039	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctatggatttgatggcctTcatctctggtcaggtacgta	10	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:237660039T>C	uc001hyl.1	+	20	2310	c.2190T>C	c.(2188-2190)CTT>CTC	p.L730L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	730	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGATGGCCTTCATCTCTGGT	0.483													C	237660039	T	C	237660039	2	2	27	1	0	0	0	0	0	0	0	1	13769	1770	62	3		3	RYR2	1	237660039	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	51251	237660039	11590582	807	24758											
RYR2	6262	broad.mit.edu	37	chr1	237754200	237754200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcatggccatctagtgccCgatcgtgttgacaaagacaa	10	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:237754200C>T	uc001hyl.1	+	31	4188	c.4068C>T	c.(4066-4068)CCC>CCT	p.P1356P		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1356	Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCTAGTGCCCGATCGTGTTG	0.448													T	237754200	C	T	237754200	2	4	27	1	0	0	0	0	0	0	0	1	13769	639	23	1		1	RYR2	1	237754200	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	94161	237754200	11496421	808	24759											
CHRM3	1131	broad.mit.edu	37	chr1	240072456	240072456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtgacaaaaaaaagaggCgcaagcagcagtaccagcag	12	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:240072456C>T	uc001hyp.2	+	5	2484	c.1705C>T	c.(1705-1707)CGC>TGC	p.R569C		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	569	Cytoplasmic (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AAAAAAGAGGCGCAAGCAGCA	0.498													T	240072456	C	T	240072456	3	4	27	1	0	0	0	0	1	0	0	0	3378	768	27	1	1707	1	CHRM3	1	240072456	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2318256	240072456	9178165	809	24760											
FMN2	56776	broad.mit.edu	37	chr1	240256747	240256747	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccaggatcaagaggcgGccggaaccctccctgagccg	13	16	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:240256747G>A	uc010pyd.1	+	1	1563	c.1338G>A	c.(1336-1338)CGG>CGA	p.R446R	FMN2_uc010pye.1_Silent_p.R446R	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	446					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCAAGAGGCGGCCGGAACCCT	0.682													A	240256747	G	A	240256747	2	1	27	1	0	0	0	0	0	0	0	1	5950	1190	42	2		2	FMN2	1	240256747	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	184291	240256747	8993874	810	24761											
FMN2	56776	broad.mit.edu	37	chr1	240497204	240497204	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggacaatagcagaagcctTttgtcatatattgtttcgta	8	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:240497204T>C	uc010pyd.1	+	12	4827	c.4602T>C	c.(4600-4602)CTT>CTC	p.L1534L	FMN2_uc010pye.1_Silent_p.L1538L|FMN2_uc010pyf.1_Silent_p.L180L|FMN2_uc010pyg.1_Silent_p.L130L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1534	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCAGAAGCCTTTTGTCATATA	0.279													C	240497204	T	C	240497204	2	2	27	1	0	0	0	0	0	0	0	1	5950	1828	64	3		3	FMN2	1	240497204	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	240457	240497204	8753417	811	24762											
GREM2	64388	broad.mit.edu	37	chr1	240656448	240656448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactcctcctccttcttcaCgtgccgcgggatgtagaagg	12	13	2	1	rs146387570		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:240656448C>T	uc001hys.2	-	2	608	c.328G>A	c.(328-330)GTG>ATG	p.V110M		NM_022469	NP_071914	Q9H772	GREM2_HUMAN	gremlin 2 precursor	110	CTCK.				BMP signaling pathway	extracellular space	cytokine activity				0		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TCCTTCTTCACGTGCCGCGGG	0.677													T	240656448	C	T	240656448	3	4	27	1	0	0	0	0	1	0	0	0	6762	536	19	1	182	1	GREM2	1	240656448	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	159244	240656448	8594173	812	24763											
CHML	1122	broad.mit.edu	37	chr1	241798852	241798852	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caggtcctgccatacaacagTactttcttccccaatgtcat	5	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:241798852T>A	uc001hzd.2	-	1	381	c.217A>T	c.(217-219)ACT>TCT	p.T73S	OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	choroideremia-like Rab escort protein 2	73					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(4)|skin(2)	6	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CATACAACAGTACTTTCTTCC	0.433													A	241798852	T	A	241798852	3	1	27	1	0	0	0	0	1	0	0	0	3351	1638	57	5	1757	5	CHML	1	241798852	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1142404	241798852	7451769	813	24764											
EXO1	9156	broad.mit.edu	37	chr1	242020693	242020693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgtggctccctatgaagCtgatgcgcagttggcctatc	11	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:242020693C>T	uc001hzh.2	+	7	992	c.452C>T	c.(451-453)GCT>GTT	p.A151V	EXO1_uc001hzi.2_Missense_Mutation_p.A151V|EXO1_uc001hzj.2_Missense_Mutation_p.A151V|EXO1_uc009xgq.2_Missense_Mutation_p.A151V	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	151	I-domain.|Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CCCTATGAAGCTGATGCGCAG	0.493								Direct_reversal_of_damage|Editing_and_processing_nucleases					T	242020693	C	T	242020693	3	4	27	1	0	0	0	0	1	0	0	0	5300	797	28	2	466	2	EXO1	1	242020693	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	221841	242020693	7229928	814	24765											
AKT3	10000	broad.mit.edu	37	chr1	243727145	243727145	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctttgtccagcattagattCtccaactgtgtattaagaaa	6	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:243727145C>T	uc001iab.1	-	9	906	c.825G>A	c.(823-825)GAG>GAA	p.E275E	AKT3_uc001hzz.1_Silent_p.E275E	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	AKT3 kinase isoform 1	275	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			GCATTAGATTCTCCAACTGTG	0.343													T	243727145	C	T	243727145	2	4	27	1	0	0	0	0	0	0	0	1	481	912	32	4		4	AKT3	1	243727145	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1706452	243727145	5523476	815	24766											
ZNF238	10472	broad.mit.edu	37	chr1	244217659	244217659	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgggaacatgtggatgCgattgccctcagactcagca	12	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:244217659C>T	uc001iae.2	+	1	1078	c.556C>T	c.(556-558)CGA>TGA	p.R186*	ZNF238_uc001iad.3_Nonsense_Mutation_p.R195*|ZNF238_uc001iaf.1_Nonsense_Mutation_p.R186*	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	186				KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHAT AAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSS LSGVENLNSSYFSSQ -> IEHPAQQKGLGGRAWEHVDAIA LRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE (in Ref. 1; AAA81368).	negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			CATGTGGATGCGATTGCCCTC	0.572													T	244217659	C	T	244217659	4	4	27	1	0	0	0	0	0	1	0	0	17787	760	27	1	589	1	ZNF238	1	244217659	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	490514	244217659	5032962	816	24767											
ZNF238	10472	broad.mit.edu	37	chr1	244217906	244217906	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acaggacgtgctgagaagcaAcctggtgcaggtgaaggtgg	17	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:244217906A>T	uc001iae.2	+	1	1325	c.803A>T	c.(802-804)AAC>ATC	p.N268I	ZNF238_uc001iad.3_Missense_Mutation_p.N277I|ZNF238_uc001iaf.1_3'UTR	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	268					negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			CTGAGAAGCAACCTGGTGCAG	0.468													T	244217906	A	T	244217906	3	4	27	1	0	0	0	0	1	0	0	0	17787	43	2	5	836	5	ZNF238	1	244217906	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	247	244217906	5032715	817	24768											
ADSS	159	broad.mit.edu	37	chr1	244574657	244574657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacaggtagttctttaaacGcccttgcatttgatatgtct	7	8	2	1	rs150012791		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:244574657G>A	uc001iaj.2	-	12	1544	c.1250C>T	c.(1249-1251)GCG>GTG	p.A417V		NM_001126	NP_001117	P30520	PURA2_HUMAN	adenylosuccinate synthase	417					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(2)|kidney(1)	3	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	TTCTTTAAACGCCCTTGCATT	0.328													A	244574657	G	A	244574657	3	1	27	1	0	0	0	0	1	0	0	0	347	1087	38	1	128	1	ADSS	1	244574657	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	356751	244574657	4675964	818	24769											
ADSS	159	broad.mit.edu	37	chr1	244595888	244595888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taataagccttttttcccagCcttctagtcctagaaagggg	8	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:244595888C>T	uc001iaj.2	-	4	659	c.365G>A	c.(364-366)GGC>GAC	p.G122D	ADSS_uc009xgr.1_RNA	NM_001126	NP_001117	P30520	PURA2_HUMAN	adenylosuccinate synthase	122					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(2)|kidney(1)	3	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	TTTTTCCCAGCCTTCTAGTCC	0.234													T	244595888	C	T	244595888	3	4	27	1	0	0	0	0	1	0	0	0	347	739	26	2	1045	2	ADSS	1	244595888	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	21231	244595888	4654733	819	24770											
C1orf101	257044	broad.mit.edu	37	chr1	244715917	244715917	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaatcagagtgcctccagAcattctgagtgatgatgaaa	10	8	2	7			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:244715917A>G	uc001iam.2	+	9	889	c.830A>G	c.(829-831)GAC>GGC	p.D277G	C1orf101_uc001iak.1_Intron|C1orf101_uc001ial.2_Missense_Mutation_p.D277G|C1orf101_uc010pym.1_Missense_Mutation_p.D126G|C1orf101_uc010pyn.1_Missense_Mutation_p.D210G	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	hypothetical protein LOC257044 isoform 1	277	Extracellular (Potential).					integral to membrane				ovary(1)|breast(1)	2	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			GTGCCTCCAGACATTCTGAGT	0.408													G	244715917	A	G	244715917	3	3	27	1	0	0	0	0	1	0	0	0	1976	275	10	3	864	3	C1orf101	1	244715917	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	120029	244715917	4534704	820	24771											
C1orf101	257044	broad.mit.edu	37	chr1	244756860	244756860	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcttgacttcacagaaaaGtttcaacctgtggttcaact	8	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:244756860G>A	uc001iam.2	+	17	2342	c.2283G>A	c.(2281-2283)AAG>AAA	p.K761K	C1orf101_uc001iak.1_Silent_p.K315K|C1orf101_uc001ial.2_Silent_p.K761K|C1orf101_uc010pym.1_Silent_p.K610K|C1orf101_uc010pyn.1_Silent_p.K694K	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	hypothetical protein LOC257044 isoform 1	761	Extracellular (Potential).					integral to membrane				ovary(1)|breast(1)	2	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TCACAGAAAAGTTTCAACCTG	0.333													A	244756860	G	A	244756860	2	1	27	1	0	0	0	0	0	0	0	1	1976	1020	36	4		4	C1orf101	1	244756860	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	40943	244756860	4493761	821	24772											
HNRNPU	3192	broad.mit.edu	37	chr1	245017773	245017773	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caataatatccttggtgataAtgctgactccatggcttctg	8	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:245017773A>G	uc001iaz.1	-	14	2675	c.2457T>C	c.(2455-2457)CAT>CAC	p.H819H	HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Silent_p.H543H|HNRNPU_uc001iba.1_Silent_p.H800H	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	819	Gly-rich.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding				0	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CTTGGTGATAATGCTGACTCC	0.338													G	245017773	A	G	245017773	2	3	27	1	0	0	0	0	0	0	0	1	7273	98	4	3		3	HNRNPU	1	245017773	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	260913	245017773	4232848	822	24773											
HNRNPU	3192	broad.mit.edu	37	chr1	245019225	245019225	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcctctgaaatttccAccacgcatattgaatcctcc	3	17	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:245019225A>G	uc001iaz.1	-	11	2366	c.2148T>C	c.(2146-2148)GGT>GGC	p.G716G	HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Silent_p.G440G|HNRNPU_uc001iba.1_Silent_p.G697G	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	716	RNA-binding RGG-box.|Gly-rich.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding				0	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TGAAATTTCCACCACGCATAT	0.388													G	245019225	A	G	245019225	2	3	27	1	0	0	0	0	0	0	0	1	7273	146	6	3		3	HNRNPU	1	245019225	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1452	245019225	4231396	823	24774											
KIF26B	55083	broad.mit.edu	37	chr1	245765975	245765975	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacggaagaagcagatcaccTtgtacgatcccctgacttgt	9	12	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:245765975T>C	uc001ibf.1	+	6	1887	c.1447T>C	c.(1447-1449)TTG>CTG	p.L483L	KIF26B_uc010pyq.1_Silent_p.L483L|KIF26B_uc001ibg.1_Silent_p.L101L	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	483	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCAGATCACCTTGTACGATCC	0.478													C	245765975	T	C	245765975	2	2	27	1	0	0	0	0	0	0	0	1	8295	1606	56	3		3	KIF26B	1	245765975	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	746750	245765975	3484646	824	24775											
KIF26B	55083	broad.mit.edu	37	chr1	245770996	245770996	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaggtgatccagtctgTggtcaacggggcagatggct	17	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:245770996T>C	uc001ibf.1	+	7	2041	c.1601T>C	c.(1600-1602)GTG>GCG	p.V534A	KIF26B_uc010pyq.1_Missense_Mutation_p.V534A|KIF26B_uc001ibg.1_Missense_Mutation_p.V152A	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	534	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ATCCAGTCTGTGGTCAACGGG	0.582													C	245770996	T	C	245770996	3	2	27	1	0	0	0	0	1	0	0	0	8295	1696	59	3	1627	3	KIF26B	1	245770996	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	5021	245770996	3479625	825	24776											
KIF26B	55083	broad.mit.edu	37	chr1	245849553	245849553	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctccttcccagagatgcAaagtctacacccagaagggg	10	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:245849553A>G	uc001ibf.1	+	12	3708	c.3268A>G	c.(3268-3270)AAA>GAA	p.K1090E	KIF26B_uc001ibg.1_Missense_Mutation_p.K708E|KIF26B_uc001ibh.1_Missense_Mutation_p.K332E	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1090					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCAGAGATGCAAAGTCTACAC	0.662													G	245849553	A	G	245849553	3	3	27	1	0	0	0	0	1	0	0	0	8295	131	5	3	3314	3	KIF26B	1	245849553	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	78557	245849553	3401068	826	24777											
KIF26B	55083	broad.mit.edu	37	chr1	245850411	245850411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcaccatctccaacacgGccaatctgagcagctgcgag	10	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:245850411G>A	uc001ibf.1	+	12	4566	c.4126G>A	c.(4126-4128)GCC>ACC	p.A1376T	KIF26B_uc001ibg.1_Missense_Mutation_p.A994T|KIF26B_uc001ibh.1_Missense_Mutation_p.A618T	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1376					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTCCAACACGGCCAATCTGAG	0.542													A	245850411	G	A	245850411	3	1	27	1	0	0	0	0	1	0	0	0	8295	1203	42	2	4172	2	KIF26B	1	245850411	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	858	245850411	3400210	827	24778											
SMYD3	64754	broad.mit.edu	37	chr1	246027162	246027162	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacttccttccatacttgCtcatcaccagttagcatatc	4	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:246027162C>T	uc001ibl.2	-	9	935	c.840G>A	c.(838-840)GAG>GAA	p.E280E	SMYD3_uc001ibk.2_Silent_p.E221E|SMYD3_uc001ibi.2_Silent_p.E91E|SMYD3_uc001ibj.2_Silent_p.E91E	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	280						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding				0	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		TCCATACTTGCTCATCACCAG	0.333													T	246027162	C	T	246027162	2	4	27	1	0	0	0	0	0	0	0	1	14823	796	28	2		2	SMYD3	1	246027162	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	176751	246027162	3223459	828	24779											
SMYD3	64754	broad.mit.edu	37	chr1	246078843	246078843	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actacataccttgtcctgggTttggcaacggaaacagtcac	9	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:246078843T>C	uc001ibl.2	-	8	897	c.802A>G	c.(802-804)ACC>GCC	p.T268A	SMYD3_uc001ibk.2_Missense_Mutation_p.T209A|SMYD3_uc001ibi.2_Missense_Mutation_p.T79A|SMYD3_uc001ibj.2_Missense_Mutation_p.T79A	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	268						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding				0	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		TTGTCCTGGGTTTGGCAACGG	0.478													C	246078843	T	C	246078843	3	2	27	1	0	0	0	0	1	0	0	0	14823	1725	60	3	504	3	SMYD3	1	246078843	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	51681	246078843	3171778	829	24780											
CNST	163882	broad.mit.edu	37	chr1	246795222	246795222	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatcctatttccaggaggaGgactgtatccttttcttaat	8	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:246795222G>T	uc001ibp.2	+	4	990	c.612G>T	c.(610-612)GAG>GAT	p.E204D	CNST_uc001ibo.3_Missense_Mutation_p.E204D	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	204					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						TCCAGGAGGAGGACTGTATCC	0.234													T	246795222	G	T	246795222	3	4	27	1	0	0	0	0	1	0	0	0	3634	991	35	5	622	5	CNST	1	246795222	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	716379	246795222	2455399	830	24781											
AHCTF1	25909	broad.mit.edu	37	chr1	247061597	247061600	+	Frame_Shift_Del	DEL	TTCA	TTCA	-													ttataaccatcaggaatgagTtcattgagtgatggacctga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:247061596_247061599GTTCA>G	uc001ibv.2	-	11	1658_1661	c.1561_1564TGAAC>C	c.(1561-1566)gaactcfs	p.E521fs	AHCTF1_uc009xgs.1_5'UTR	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	512	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCAGGAATGAGTTCATTGAGTGAT	0.343													-	247061600	TTCA	-	247061597	7	5	27	1	0	1	0	1	0	0	0	0	408	1722	60	0	5364	0	AHCTF1	1	247061597	Frame_Shift_Del	DEL	TTCA	TCGA-BR-6452-01A-12D-1800-08	266375	247061597	2189024	831	24782											
AHCTF1	25909	broad.mit.edu	37	chr1	247071023	247071023	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attacactttctctaatgtgTggtacttcagctgggatacc	8	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:247071023T>C	uc001ibu.1	-	4	601	c.594A>G	c.(592-594)CCA>CCG	p.P198P	AHCTF1_uc001ibv.1_Silent_p.P207P	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	198	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTCTAATGTGTGGTACTTCAG	0.368													C	247071023	T	C	247071023	2	2	27	1	0	0	0	0	0	0	0	1	408	1683	59	3		3	AHCTF1	1	247071023	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9426	247071023	2179598	832	24783											
ZNF695	57116	broad.mit.edu	37	chr1	247151044	247151044	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcagtatgatttttctcaAcaacagcaagacttgagcaa	6	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:247151044A>G	uc009xgu.2	-	4	918	c.773T>C	c.(772-774)GTT>GCT	p.V258A	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	258	C2H2-type 4; degenerate.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATTTTTCTCAACAACAGCAAG	0.328													G	247151044	A	G	247151044	3	3	27	1	0	0	0	0	1	0	0	0	18095	43	2	3	778	3	ZNF695	1	247151044	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	80021	247151044	2099577	833	24784											
ZNF695	57116	broad.mit.edu	37	chr1	247151183	247151183	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccacattttttacattggtAcgggttctctccaatatgga	8	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:247151183A>G	uc009xgu.2	-	4	779	c.634T>C	c.(634-636)TAC>CAC	p.Y212H	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	212	C2H2-type 3; atypical.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTACATTGGTACGGGTTCTCT	0.373													G	247151183	A	G	247151183	3	3	27	1	0	0	0	0	1	0	0	0	18095	391	14	3	917	3	ZNF695	1	247151183	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	139	247151183	2099438	834	24785											
ZNF669	79862	broad.mit.edu	37	chr1	247264102	247264102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgtgagtcctttcatgCgtcttaaaagaacaagaaaa	8	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:247264102C>T	uc001ice.2	-	4	1142	c.969G>A	c.(967-969)ACG>ACA	p.T323T	ZNF669_uc001icf.2_Silent_p.T237T	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	zinc finger protein 669 isoform 1	323	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TCCTTTCATGCGTCTTAAAAG	0.408													T	247264102	C	T	247264102	2	4	27	1	0	0	0	0	0	0	0	1	18073	755	27	1		1	ZNF669	1	247264102	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	112919	247264102	1986519	835	24786											
OR6F1	343169	broad.mit.edu	37	chr1	247875672	247875672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggctccgtagtgtaaaGgatagcagatggcaagacag	14	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:247875672G>A	uc001idj.1	-	1	386	c.386C>T	c.(385-387)CCT>CTT	p.P129L		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GTAGTGTAAAGGATAGCAGAT	0.547													A	247875672	G	A	247875672	3	1	27	1	0	0	0	0	1	0	0	0	11201	1000	35	4	544	4	OR6F1	1	247875672	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	611570	247875672	1374949	836	24787											
OR14A16	284532	broad.mit.edu	37	chr1	247978673	247978673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgacatatagcagtatagCggtcaaaggacatcaccgtg	12	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:247978673C>T	uc001idm.1	-	1	359	c.359G>A	c.(358-360)CGC>CAC	p.R120H		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A,	120	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGCAGTATAGCGGTCAAAGGA	0.488													T	247978673	C	T	247978673	3	4	27	1	0	0	0	0	1	0	0	0	10945	768	27	1	574	1	OR14A16	1	247978673	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	103001	247978673	1271948	837	24788											
OR11L1	391189	broad.mit.edu	37	chr1	248004583	248004583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaaacaaatgcacagcaCggcaattgacaggatgaaga	9	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:248004583C>T	uc001idn.1	-	1	616	c.616G>A	c.(616-618)GTG>ATG	p.V206M		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	206	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATGCACAGCACGGCAATTGAC	0.478													T	248004583	C	T	248004583	3	4	27	1	0	0	0	0	1	0	0	0	10930	536	19	1	356	1	OR11L1	1	248004583	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	25910	248004583	1246038	838	24789											
TRIM58	25893	broad.mit.edu	37	chr1	248039603	248039603	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagccggtgaaatttcattcTacaatgtcacagatggatct	8	8	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:248039603T>C	uc001ido.2	+	6	1321	c.1273T>C	c.(1273-1275)TAC>CAC	p.Y425H	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	425	B30.2/SPRY.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AATTTCATTCTACAATGTCAC	0.438													C	248039603	T	C	248039603	3	2	27	1	0	0	0	0	1	0	0	0	16528	1522	53	3	1295	3	TRIM58	1	248039603	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	35020	248039603	1211018	839	24790											
OR2L8	391190	broad.mit.edu	37	chr1	248112949	248112949	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttatctacgtccaagatccCtgcgatctccaacagaggac	7	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:248112949C>A	uc001idt.1	+	1	790	c.790C>A	c.(790-792)CTG>ATG	p.L264M	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCCAAGATCCCTGCGATCTCC	0.483													A	248112949	C	A	248112949	3	1	27	1	0	0	0	0	1	0	0	0	11009	680	24	5	792	5	OR2L8	1	248112949	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	73346	248112949	1137672	840	24791											
OR2M2	391194	broad.mit.edu	37	chr1	248344042	248344042	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggtggtgggaatgtactAtggagcagctttgttcatgt	14	5	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:248344042A>G	uc010pzf.1	+	1	755	c.755A>G	c.(754-756)TAT>TGT	p.Y252C		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	252	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGAATGTACTATGGAGCAGCT	0.507													G	248344042	A	G	248344042	3	3	27	1	0	0	0	0	1	0	0	0	11010	449	16	3	757	3	OR2M2	1	248344042	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	231093	248344042	906579	841	24792											
OR2T4	127074	broad.mit.edu	37	chr1	248525681	248525682	+	Frame_Shift_Ins	INS	-	-	A													gaactcagcagagggccggaINSaaaaggcctttgccacctgc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:248525680_248525681G>GA	uc001ieh.1	+	0	798_799	c.798_799G>GA	c.(796-801)cggaaafs	p.R266fs		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGAGGGCCGGAAAAAGGCCTT	0.554													A	248525682	-	A	248525681	7	5	27	1	0	1	1	0	0	0	0	0	11027	247	9	0	801	0	OR2T4	1	248525681	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	181639	248525681	724940	842	24793											
OR2T6	254879	broad.mit.edu	37	chr1	248551708	248551708	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcttccccaatcttaccacAccccaatcaaagataaggtc	4	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:248551708A>G	uc001iei.1	+	1	799	c.799A>G	c.(799-801)ACC>GCC	p.T267A		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCTTACCACACCCCAATCAA	0.478													G	248551708	A	G	248551708	3	3	27	1	0	0	0	0	1	0	0	0	11029	159	6	3	801	3	OR2T6	1	248551708	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	26027	248551708	698913	843	24794											
OR2G6	391211	broad.mit.edu	37	chr1	248685734	248685734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattcatgtaccttcaaccgGccaataggagatccaaaaac	6	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:248685734G>A	uc001ien.1	+	1	787	c.787G>A	c.(787-789)GCC>ACC	p.A263T		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	263	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTTCAACCGGCCAATAGGAG	0.448													A	248685734	G	A	248685734	3	1	27	1	0	0	0	0	1	0	0	0	11000	1203	42	2	789	2	OR2G6	1	248685734	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	134026	248685734	564887	844	24795											
OR14I1	401994	broad.mit.edu	37	chr1	248844710	248844710	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacaaagagtctccacAtggctgttttaatctcctta	5	11	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:248844710A>G	uc001ieu.1	-	1	896	c.896T>C	c.(895-897)ATG>ACG	p.M299T		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GAGTCTCCACATGGCTGTTTT	0.363													G	248844710	A	G	248844710	3	3	27	1	0	0	0	0	1	0	0	0	10947	217	8	3	43	3	OR14I1	1	248844710	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	158976	248844710	405911	845	24796											
ZNF692	55657	broad.mit.edu	37	chr1	249149772	249149772	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctacctaattctcttggggCcaatttgtgcagtgtcctca	8	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr1:249149772C>A	uc001ifc.1	-	8	1111	c.944G>T	c.(943-945)GGC>GTC	p.G315V	ZNF692_uc001iez.1_Missense_Mutation_p.G37V|ZNF692_uc001ifa.1_Missense_Mutation_p.G37V|ZNF692_uc001ifb.1_Missense_Mutation_p.G111V|ZNF692_uc001ifd.1_Missense_Mutation_p.G314V|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Missense_Mutation_p.G270V|ZNF692_uc010pzr.1_Missense_Mutation_p.G320V	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	zinc finger protein 692 isoform 2	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCTCTTGGGGCCAATTTGTGC	0.617													A	249149772	C	A	249149772	3	1	27	1	0	0	0	0	1	0	0	0	18094	739	26	5	635	5	ZNF692	1	249149772	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	305062	249149772	100849	846	24797											
SNTG2	54221	broad.mit.edu	37	chr2	1079240	1079240	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctctgttgtatgatgaagagTccgaaaatgcctatgacatc	9	8	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:1079240T>A	uc002qwq.2	+	2	237	c.109T>A	c.(109-111)TCC>ACC	p.S37T	SNTG2_uc002qwp.2_RNA|SNTG2_uc010ewi.2_Missense_Mutation_p.S37T	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	37					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGATGAAGAGTCCGAAAATGC	0.498													A	1079240	T	A	1079240	3	1	27	1	0	0	0	0	1	0	0	0	14875	1667	58	5	115	5	SNTG2	2	1079240	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08		1079240	242120133	847	24798											
TPO	7173	broad.mit.edu	37	chr2	1437321	1437321	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagagataatggaaacatcAatacaagcgatgaaaagaaa	9	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:1437321A>G	uc002qww.2	+	4	382	c.291A>G	c.(289-291)TCA>TCG	p.S97S	TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Silent_p.S97S|TPO_uc002qwu.2_Silent_p.S97S|TPO_uc002qwr.2_Silent_p.S97S|TPO_uc002qwx.2_Silent_p.S97S|TPO_uc010yio.1_Silent_p.S97S|TPO_uc010yip.1_Silent_p.S97S	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	97	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGGAAACATCAATACAAGCGA	0.483													G	1437321	A	G	1437321	2	3	27	1	0	0	0	0	0	0	0	1	16407	117	5	3		3	TPO	2	1437321	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	358081	1437321	241762052	848	24799											
TTC15	51112	broad.mit.edu	37	chr2	3392316	3392316	+	Missense_Mutation	SNP	G	G	A													gcgagatggaccggaggaacGacgcctggcttcccggcgag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:3392316G>A	uc002qxm.1	+	2	1128	c.922G>A	c.(922-924)GAC>AAC	p.D308N	TTC15_uc002qxn.1_Missense_Mutation_p.D308N|TTC15_uc010ewm.1_Missense_Mutation_p.D308N|TTC15_uc002qxl.1_Missense_Mutation_p.D308N	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	308							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)		CCGGAGGAACGACGCCTGGCT	0.677													A	3392316	G	A	3392316	3	1	27	1	0	0	0	0	1	0	0	0	16679	1058	37	1	924	1	TTC15	2	3392316	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1954995	3392316	239807057	849	24800	81	2									
TTC15	51112	broad.mit.edu	37	chr2	3392319	3392319	+	Missense_Mutation	SNP	G	G	A													agatggaccggaggaacgacGcctggcttcccggcgaggct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:3392319G>A	uc002qxm.1	+	2	1131	c.925G>A	c.(925-927)GCC>ACC	p.A309T	TTC15_uc002qxn.1_Missense_Mutation_p.A309T|TTC15_uc010ewm.1_Missense_Mutation_p.A309T|TTC15_uc002qxl.1_Missense_Mutation_p.A309T	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	309							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)		GAGGAACGACGCCTGGCTTCC	0.677													A	3392319	G	A	3392319	3	1	27	1	0	0	0	0	1	0	0	0	16679	1087	38	1	927	1	TTC15	2	3392319	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3	3392319	239807054	850	24801	81	2									
RPS7	6201	broad.mit.edu	37	chr2	3627805	3627805	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctagatggcagccggctcatAaaggttcatttggacaaagc	11	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:3627805A>T	uc002qxw.2	+	6	568	c.462A>T	c.(460-462)ATA>ATT	p.I154I	RPS7_uc002qxy.2_RNA	NM_001011	NP_001002	P62081	RS7_HUMAN	ribosomal protein S7	154					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		GCCGGCTCATAAAGGTTCATT	0.468													T	3627805	A	T	3627805	2	4	27	1	0	0	0	0	0	0	0	1	13660	352	13	5		5	RPS7	2	3627805	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	235486	3627805	239571568	851	24802											
ALLC	55821	broad.mit.edu	37	chr2	3743888	3743888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcggggcaaagtctatgGcggatggttgggaaactgca	17	6	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:3743888G>A	uc010ewt.2	+	9	852	c.691G>A	c.(691-693)GCG>ACG	p.A231T	ALLC_uc002qyf.2_Missense_Mutation_p.A2T	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	allantoicase isoform a	250							allantoicase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		AAAGTCTATGGCGGATGGTTG	0.348										HNSCC(21;0.051)			A	3743888	G	A	3743888	3	1	27	1	0	0	0	0	1	0	0	0	534	1203	42	2	721	2	ALLC	2	3743888	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	116083	3743888	239455485	852	24803											
ALLC	55821	broad.mit.edu	37	chr2	3744991	3744991	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaatgggcagttttccgAttggcacatcctggagtaat	12	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:3744991A>T	uc010ewt.2	+	10	956	c.795A>T	c.(793-795)CGA>CGT	p.R265R	ALLC_uc002qyf.2_Silent_p.R36R	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	allantoicase isoform a	284							allantoicase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CAGTTTTCCGATTGGCACATC	0.373										HNSCC(21;0.051)			T	3744991	A	T	3744991	2	4	27	1	0	0	0	0	0	0	0	1	534	320	12	5		5	ALLC	2	3744991	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1103	3744991	239454382	853	24804											
SOX11	6664	broad.mit.edu	37	chr2	5833108	5833108	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctccaagaggctgggcaaGcgctggaaaatgctgaagga	14	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:5833108G>A	uc002qyj.2	+	1	310	c.255G>A	c.(253-255)AAG>AAA	p.K85K		NM_003108	NP_003099	P35716	SOX11_HUMAN	SRY-box 11	85	HMG box.				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		GGCTGGGCAAGCGCTGGAAAA	0.582													A	5833108	G	A	5833108	2	1	27	1	0	0	0	0	0	0	0	1	14942	962	34	2		2	SOX11	2	5833108	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2088117	5833108	237366265	854	24805											
RNF144A	9781	broad.mit.edu	37	chr2	7137188	7137188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccaatgcatcttctgtaCtctggttggtctttttggat	10	8	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:7137188C>T	uc002qys.2	+	3	573	c.131C>T	c.(130-132)ACT>ATT	p.T44I	RNF144A_uc002qyt.2_Intron	NM_014746	NP_055561	P50876	R144A_HUMAN	ring finger protein 144	44	RING-type 1; atypical.					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			ovary(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		ATCTTCTGTACTCTGGTTGGT	0.463													T	7137188	C	T	7137188	3	4	27	1	0	0	0	0	1	0	0	0	13445	565	20	4	133	4	RNF144A	2	7137188	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1304080	7137188	236062185	855	24806											
KIDINS220	57498	broad.mit.edu	37	chr2	8871208	8871208	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctatcaagctgcattcggaaGggcttttcttgtcttctgaa	9	9	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:8871208G>T	uc002qzc.2	-	30	5140	c.4958C>A	c.(4957-4959)CCT>CAT	p.P1653H	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.P1554H|KIDINS220_uc002qzb.2_Missense_Mutation_p.P507H	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1653	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCATTCGGAAGGGCTTTTCTT	0.522													T	8871208	G	T	8871208	3	4	27	1	0	0	0	0	1	0	0	0	8271	1000	35	5	361	5	KIDINS220	2	8871208	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1734020	8871208	234328165	856	24807											
KIDINS220	57498	broad.mit.edu	37	chr2	8919145	8919145	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggactatgttgcgcatgtagTcatggccatttatatttgaa	10	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:8919145T>A	uc002qzc.2	-	19	2677	c.2495A>T	c.(2494-2496)GAC>GTC	p.D832V	KIDINS220_uc010yiv.1_Missense_Mutation_p.D598V|KIDINS220_uc002qzd.2_Missense_Mutation_p.D790V|KIDINS220_uc010yiw.1_Missense_Mutation_p.D833V	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	832	KAP NTPase.|Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCGCATGTAGTCATGGCCATT	0.398													A	8919145	T	A	8919145	3	1	27	1	0	0	0	0	1	0	0	0	8271	1667	58	5	2868	5	KIDINS220	2	8919145	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	47937	8919145	234280228	857	24808											
KIDINS220	57498	broad.mit.edu	37	chr2	8934031	8934031	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgggcctataaagtaaTcgcccatctttgggatttct	9	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:8934031T>A	uc002qzc.2	-	12	1367	c.1185A>T	c.(1183-1185)CGA>CGT	p.R395R	KIDINS220_uc010yiv.1_Silent_p.R161R|KIDINS220_uc002qzd.2_Silent_p.R353R|KIDINS220_uc010yiw.1_Silent_p.R396R	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	395	Cytoplasmic (Potential).|ANK 12.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TATAAAGTAATCGCCCATCTT	0.393													A	8934031	T	A	8934031	2	1	27	1	0	0	0	0	0	0	0	1	8271	1422	50	5		5	KIDINS220	2	8934031	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	14886	8934031	234265342	858	24809											
ASAP2	8853	broad.mit.edu	37	chr2	9531284	9531284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcttcgtcagatccgccagCtgtccatccaccgctgcccc	7	19	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:9531284C>A	uc002qzh.2	+	23	2817	c.2477C>A	c.(2476-2478)GCT>GAT	p.A826D	ASAP2_uc002qzi.2_Intron	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	826	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						GATCCGCCAGCTGTCCATCCA	0.542													A	9531284	C	A	9531284	3	1	27	1	0	0	0	0	1	0	0	0	1011	797	28	5	2567	5	ASAP2	2	9531284	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	597253	9531284	233668089	859	24810											
GRHL1	29841	broad.mit.edu	37	chr2	10130832	10130832	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaacctacagggagctgaGcggaaaatcagggatgaaga	13	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:10130832G>A	uc002raa.2	+	10	1449	c.1278G>A	c.(1276-1278)GAG>GAA	p.E426E	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Silent_p.E237E|GRHL1_uc010yjb.1_Silent_p.E275E	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	426					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		AGGGAGCTGAGCGGAAAATCA	0.423													A	10130832	G	A	10130832	2	1	27	1	0	0	0	0	0	0	0	1	6763	962	34	2		2	GRHL1	2	10130832	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	599548	10130832	233068541	860	24811											
HPCAL1	3241	broad.mit.edu	37	chr2	10559932	10559932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaggtgctgcaggacctgCgggagaacacggagttcacc	15	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:10559932C>T	uc002raj.2	+	3	423	c.49C>T	c.(49-51)CGG>TGG	p.R17W	HPCAL1_uc002rak.2_Missense_Mutation_p.R17W|HPCAL1_uc002ral.2_Missense_Mutation_p.R17W|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Missense_Mutation_p.R17W	NM_002149	NP_002140	P37235	HPCL1_HUMAN	hippocalcin-like 1	17							calcium ion binding			pancreas(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		GCAGGACCTGCGGGAGAACAC	0.652													T	10559932	C	T	10559932	3	4	27	1	0	0	0	0	1	0	0	0	7330	759	27	1	51	1	HPCAL1	2	10559932	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	429100	10559932	232639441	861	24812											
NOL10	79954	broad.mit.edu	37	chr2	10729375	10729375	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatctgaactctccgaactTtctgcatcacttggttttcc	5	13	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:10729375T>C	uc002raq.2	-	19	1763	c.1638A>G	c.(1636-1638)GAA>GAG	p.E546E	NOL10_uc010yje.1_Silent_p.E520E|NOL10_uc010yjf.1_Silent_p.E496E|NOL10_uc002rap.2_Silent_p.E496E	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	546	Potential.					nucleolus					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TCTCCGAACTTTCTGCATCAC	0.498													C	10729375	T	C	10729375	2	2	27	1	0	0	0	0	0	0	0	1	10520	1838	64	3		3	NOL10	2	10729375	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	169443	10729375	232469998	862	24813											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10917819	10917820	+	Frame_Shift_Ins	INS	-	-	AG													tgctgcggggcagaccgacaINSgagagagagagagtgagggc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:10917818_10917819C>CAG	uc002ras.3	+	10	1042_1043	c.933_934C>CAG	c.(931-936)gacagafs	p.D311fs	ATP6V1C2_uc002rat.3_Intron	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	311					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GGCAGACCGACAGAGAGAGAGA	0.609													AG	10917820	-	AG	10917819	7	5	27	1	0	1	1	0	0	0	0	0	1181	180	7	0	972	0	ATP6V1C2	2	10917819	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	188444	10917819	232281554	863	24814											
GREB1	9687	broad.mit.edu	37	chr2	11765302	11765302	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagagaagaatctgactgGcattatctccagcttagcga	9	10	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:11765302G>A	uc002rbk.1	+	24	4470	c.4170G>A	c.(4168-4170)TGG>TGA	p.W1390*	GREB1_uc002rbp.1_Nonsense_Mutation_p.W388*	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1390						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AATCTGACTGGCATTATCTCC	0.393													A	11765302	G	A	11765302	4	1	27	1	0	0	0	0	0	1	0	0	6760	1212	42	2	4368	2	GREB1	2	11765302	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	847483	11765302	231434071	864	24815											
LPIN1	23175	broad.mit.edu	37	chr2	11911703	11911703	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggagaaagtcacagctggAcagcctgaagagagatgaca	14	7	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:11911703A>G	uc010yjn.1	+	5	768	c.494A>G	c.(493-495)GAC>GGC	p.D165G	LPIN1_uc010yjm.1_Missense_Mutation_p.D214G|LPIN1_uc002rbt.2_Missense_Mutation_p.D165G|LPIN1_uc002rbs.2_Missense_Mutation_p.D165G	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	165					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TCACAGCTGGACAGCCTGAAG	0.547													G	11911703	A	G	11911703	3	3	27	1	0	0	0	0	1	0	0	0	8918	275	10	3	504	3	LPIN1	2	11911703	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	146401	11911703	231287670	865	24816											
TRIB2	28951	broad.mit.edu	37	chr2	12863637	12863637	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggggggctggtgctgcgGgacctcaagctgcggaaatt	18	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:12863637G>A	uc002rbv.3	+	2	1958	c.522G>A	c.(520-522)CGG>CGA	p.R174R	TRIB2_uc010yjp.1_Silent_p.R38R	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	tribbles homolog 2	174	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			stomach(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGGTGCTGCGGGACCTCAAGC	0.572													A	12863637	G	A	12863637	2	1	27	1	0	0	0	0	0	0	0	1	16480	1219	43	4		4	TRIB2	2	12863637	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	951934	12863637	230335736	866	24817											
DDX1	1653	broad.mit.edu	37	chr2	15769774	15769774	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagggtgttataacacaAgactcaaggaagatggaggc	13	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:15769774A>G	uc002rce.2	+	24	2212	c.1924A>G	c.(1924-1926)AGA>GGA	p.R642G		NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	642	Helicase C-terminal.|Necessary for interaction with HNRNPK.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TTATAACACAAGACTCAAGGA	0.368													G	15769774	A	G	15769774	3	3	27	1	0	0	0	0	1	0	0	0	4341	64	3	3	2018	3	DDX1	2	15769774	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2906137	15769774	227429599	867	24818											
RAD51AP2	729475	broad.mit.edu	37	chr2	17697217	17697217	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattttttttcttctatttcActtagcaagttccaaaaatt	2	7	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:17697217A>G	uc002rcl.1	-	1	2490	c.2466T>C	c.(2464-2466)AGT>AGC	p.S822S	RAD51AP2_uc010exn.1_Silent_p.S813S	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	822										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTCTATTTCACTTAGCAAGT	0.328													G	17697217	A	G	17697217	2	3	27	1	0	0	0	0	0	0	0	1	12987	156	6	3		3	RAD51AP2	2	17697217	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1927443	17697217	225502156	868	24819											
SMC6	79677	broad.mit.edu	37	chr2	17864968	17864968	+	Frame_Shift_Del	DEL	T	T	-													ctcccagtaatttaataaacTtttttaaagtcctcacttta							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:17864967_17864967CT>C	uc002rco.3	-	23	3038	c.2742_2742AG>G	c.(2740-2742)aagfs	p.K914fs	SMC6_uc010exo.3_Frame_Shift_Del_p.K914fs|SMC6_uc002rcn.3_Frame_Shift_Del_p.K914fs	NM_001142286	NP_078900	Q96SB8	SMC6_HUMAN	Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA.	914					DNA recombination|DNA repair	chromosome|nucleus	ATP binding	p.K914N(2)		NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATTTAATAAACTTTTTTAAAG	0.289													-	17864968	T	-	17864968	7	5	27	1	0	1	0	1	0	0	0	0	14787	1609	56	0	554	0	SMC6	2	17864968	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	167751	17864968	225334405	869	24820											
SMC6	79677	broad.mit.edu	37	chr2	17898096	17898096	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaattttcttgattttgaaAggcctttactctctctttta	5	7	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:17898096A>G	uc002rco.2	-	14	1554	c.1258T>C	c.(1258-1260)TTT>CTT	p.F420L	SMC6_uc010exo.2_Missense_Mutation_p.F420L|SMC6_uc002rcn.2_Missense_Mutation_p.F420L|SMC6_uc002rcp.1_Missense_Mutation_p.F446L|SMC6_uc002rcq.2_Missense_Mutation_p.F446L|SMC6_uc002rcr.1_Missense_Mutation_p.F420L	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	420	Potential.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGATTTTGAAAGGCCTTTACT	0.348													G	17898096	A	G	17898096	3	3	27	1	0	0	0	0	1	0	0	0	14787	72	3	3	2077	3	SMC6	2	17898096	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	33128	17898096	225301277	870	24821											
GEN1	348654	broad.mit.edu	37	chr2	17962934	17962934	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagctaagtacacaactcaaAgaatgaagcacagttctcaa	6	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:17962934A>G	uc002rct.2	+	14	2528	c.2455A>G	c.(2455-2457)AGA>GGA	p.R819G	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.R819G|GEN1_uc002rcu.2_Missense_Mutation_p.R819G	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	819					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CACAACTCAAAGAATGAAGCA	0.378								Homologous_recombination					G	17962934	A	G	17962934	3	3	27	1	0	0	0	0	1	0	0	0	6335	64	3	3	2505	3	GEN1	2	17962934	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	64838	17962934	225236439	871	24822											
KCNS3	3790	broad.mit.edu	37	chr2	18112978	18112978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcattgcctggttcaccGgggagcttgccgtccggctg	15	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:18112978G>A	uc002rcv.2	+	3	1154	c.703G>A	c.(703-705)GGG>AGG	p.G235R	KCNS3_uc002rcw.2_Missense_Mutation_p.G235R	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	235	Helical; Name=Segment S2; (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGGTTCACCGGGGAGCTTGC	0.517													A	18112978	G	A	18112978	3	1	27	1	0	0	0	0	1	0	0	0	8090	1116	39	1	705	1	KCNS3	2	18112978	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	150044	18112978	225086395	872	24823											
SDC1	6382	broad.mit.edu	37	chr2	20403763	20403763	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtgggaggtggcgggctcCtgggccgtggtggctgtggt	24	7	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:20403763C>A	uc002rdo.1	-	3	737	c.438G>T	c.(436-438)CAG>CAT	p.Q146H	SDC1_uc002rdp.1_Missense_Mutation_p.Q146H|SDC1_uc010exv.2_Missense_Mutation_p.Q146H|SDC1_uc010exw.1_RNA	NM_002997	NP_002988	P18827	SDC1_HUMAN	syndecan 1 precursor	146	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			ovary(4)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		TGGCGGGCTCCTGGGCCGTGG	0.687													A	20403763	C	A	20403763	3	1	27	1	0	0	0	0	1	0	0	0	13951	680	24	5	506	5	SDC1	2	20403763	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2290785	20403763	222795610	873	24824											
PUM2	23369	broad.mit.edu	37	chr2	20451433	20451433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaacttggccagtatatgCttcccgtatgtgtatttgcg	9	10	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:20451433C>T	uc002rds.1	-	20	3131	c.3108G>A	c.(3106-3108)AAG>AAA	p.K1036K	PUM2_uc002rdq.1_Silent_p.K415K|PUM2_uc002rdt.1_Silent_p.K1036K|PUM2_uc002rdr.2_Silent_p.K896K|PUM2_uc010yjy.1_Silent_p.K957K|PUM2_uc002rdu.1_Silent_p.K1036K|PUM2_uc010yjz.1_Silent_p.K975K	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	1038	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGTATATGCTTCCCGTATG	0.373													T	20451433	C	T	20451433	2	4	27	1	0	0	0	0	0	0	0	1	12826	796	28	2		2	PUM2	2	20451433	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	47670	20451433	222747940	874	24825											
PUM2	23369	broad.mit.edu	37	chr2	20483138	20483138	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgaactaattaaaacaggTgttggagccattaaccgaac	9	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:20483138T>C	uc002rds.1	-	10	1424	c.1401A>G	c.(1399-1401)ACA>ACG	p.T467T	PUM2_uc002rdt.1_Silent_p.T467T|PUM2_uc002rdr.2_Silent_p.T406T|PUM2_uc010yjy.1_Silent_p.T467T|PUM2_uc002rdu.1_Silent_p.T467T|PUM2_uc010yjz.1_Silent_p.T406T	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	467	Ala-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTAAAACAGGTGTTGGAGCCA	0.428													C	20483138	T	C	20483138	2	2	27	1	0	0	0	0	0	0	0	1	12826	1683	59	3		3	PUM2	2	20483138	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	31705	20483138	222716235	875	24826											
HS1BP3	64342	broad.mit.edu	37	chr2	20824635	20824635	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacggccactttgggatgtTtcttgggcttcttggagctg	13	9	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:20824635T>C	uc002rdw.1	-	5	682	c.641A>G	c.(640-642)AAA>AGA	p.K214R		NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	214	Pro-rich.				cell communication		phosphatidylinositol binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGGGATGTTTCTTGGGCTT	0.597													C	20824635	T	C	20824635	3	2	27	1	0	0	0	0	1	0	0	0	7361	1841	64	3	549	3	HS1BP3	2	20824635	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	341497	20824635	222374738	876	24827											
APOB	338	broad.mit.edu	37	chr2	21224949	21224949	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaggatgctaagatattcctGaatatttctgtgcagaaatt	8	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:21224949G>T	uc002red.2	-	29	13473	c.13345C>A	c.(13345-13347)CAG>AAG	p.Q4449K		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4449					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGATATTCCTGAATATTTCTG	0.403													T	21224949	G	T	21224949	3	4	27	1	0	0	0	0	1	0	0	0	785	1299	45	5	350	5	APOB	2	21224949	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	400314	21224949	221974424	877	24828											
APOB	338	broad.mit.edu	37	chr2	21225766	21225766	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaattcttgagtaactcgTaccaagccatcaaacacgtt	7	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:21225766T>C	uc002red.2	-	29	12656	c.12528A>G	c.(12526-12528)GTA>GTG	p.V4176V		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4176					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAGTAACTCGTACCAAGCCAT	0.468													C	21225766	T	C	21225766	2	2	27	1	0	0	0	0	0	0	0	1	785	1625	57	3		3	APOB	2	21225766	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	817	21225766	221973607	878	24829											
APOB	338	broad.mit.edu	37	chr2	21230586	21230586	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactttcaaattcccttcatTgtttgtggatgccgtgatct	7	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:21230586T>G	uc002red.2	-	26	9282	c.9154A>C	c.(9154-9156)AAT>CAT	p.N3052H		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3052					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCCCTTCATTGTTTGTGGAT	0.408													G	21230586	T	G	21230586	3	3	27	1	0	0	0	0	1	0	0	0	785	1812	63	5	4553	5	APOB	2	21230586	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4820	21230586	221968787	879	24830											
APOB	338	broad.mit.edu	37	chr2	21230676	21230676	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctttccatttaaatgagcatCatgcctcccagtaaactctg	5	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:21230676C>A	uc002red.2	-	26	9192	c.9064G>T	c.(9064-9066)GAT>TAT	p.D3022Y		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3022					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAATGAGCATCATGCCTCCCA	0.438													A	21230676	C	A	21230676	3	1	27	1	0	0	0	0	1	0	0	0	785	826	29	5	4643	5	APOB	2	21230676	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	90	21230676	221968697	880	24831											
APOB	338	broad.mit.edu	37	chr2	21232015	21232015	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaccaatgctttcatacgTttagcccaatcttggataga	6	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:21232015T>C	uc002red.2	-	26	7853	c.7725A>G	c.(7723-7725)AAA>AAG	p.K2575K		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2575					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTTTCATACGTTTAGCCCAAT	0.438													C	21232015	T	C	21232015	2	2	27	1	0	0	0	0	0	0	0	1	785	1722	60	3		3	APOB	2	21232015	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1339	21232015	221967358	881	24832											
APOB	338	broad.mit.edu	37	chr2	21237364	21237364	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtggaagtctggcaatccCatgttctggaggttgaactc	12	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:21237364C>A	uc002red.2	-	24	3926	c.3798G>T	c.(3796-3798)ATG>ATT	p.M1266I		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1266					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGGCAATCCCATGTTCTGGA	0.433													A	21237364	C	A	21237364	3	1	27	1	0	0	0	0	1	0	0	0	785	594	21	5	9917	5	APOB	2	21237364	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5349	21237364	221962009	882	24833											
APOB	338	broad.mit.edu	37	chr2	21238370	21238370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttctgcttgcaaacggGgtatggaaataacacccttg	11	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:21238370G>A	uc002red.2	-	22	3508	c.3380C>T	c.(3379-3381)CCC>CTC	p.P1127L		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1127					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGCAAACGGGGTATGGAAAT	0.448													A	21238370	G	A	21238370	3	1	27	1	0	0	0	0	1	0	0	0	785	1232	43	4	10343	4	APOB	2	21238370	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1006	21238370	221961003	883	24834											
APOB	338	broad.mit.edu	37	chr2	21252548	21252548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttccgcagagcctggatgGcagctttctggatcatcagt	11	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:21252548G>A	uc002red.2	-	12	1708	c.1580C>T	c.(1579-1581)GCC>GTC	p.A527V		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	527	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGCCTGGATGGCAGCTTTCTG	0.428													A	21252548	G	A	21252548	3	1	27	1	0	0	0	0	1	0	0	0	785	1203	42	2	12183	2	APOB	2	21252548	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	14178	21252548	221946825	884	24835											
ATAD2B	54454	broad.mit.edu	37	chr2	24033224	24033224	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgttttggcactaactgAataaagtgctgggagatcta	12	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:24033224A>G	uc002rek.3	-	18	2710	c.2416T>C	c.(2416-2418)TCA>CCA	p.S806P	ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Missense_Mutation_p.S51P|ATAD2B_uc002rej.3_5'UTR	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	806							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACTAACTGAATAAAGTGCT	0.428													G	24033224	A	G	24033224	3	3	27	1	0	0	0	0	1	0	0	0	1072	246	9	3	2004	3	ATAD2B	2	24033224	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2780676	24033224	219166149	885	24836											
ATAD2B	54454	broad.mit.edu	37	chr2	24046213	24046213	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgaagcttctttccagCagtggtcttatgatggggga	13	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:24046213C>T	uc002rek.3	-	16	2340	c.2046G>A	c.(2044-2046)CTG>CTA	p.L682L	ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rej.3_5'UTR	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	682							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTTTCCAGCAGTGGTCTTA	0.443													T	24046213	C	T	24046213	2	4	27	1	0	0	0	0	0	0	0	1	1072	697	25	2		2	ATAD2B	2	24046213	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	12989	24046213	219153160	886	24837											
UBXN2A	165324	broad.mit.edu	37	chr2	24194218	24194218	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aattgtgaatattttgttgaTagcctttttgaggaagctca	9	4	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:24194218T>A	uc010exy.2	+	4	582	c.114T>A	c.(112-114)GAT>GAA	p.D38E	UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.D38E|UBXN2A_uc010ykj.1_Missense_Mutation_p.D38E	NM_181713	NP_859064	P68543	UBX2A_HUMAN	UBX domain containing 4	38											0						ATTTTGTTGATAGCCTTTTTG	0.338													A	24194218	T	A	24194218	3	1	27	1	0	0	0	0	1	0	0	0	16911	1403	49	5	120	5	UBXN2A	2	24194218	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	148005	24194218	219005155	887	24838											
UBXN2A	165324	broad.mit.edu	37	chr2	24205770	24205770	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgttttccaagggaaTtaccttcagaattacaggga	8	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:24205770T>A	uc010exy.2	+	6	760	c.292T>A	c.(292-294)TTA>ATA	p.L98I	UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.L98I|UBXN2A_uc010ykj.1_Missense_Mutation_p.L98I	NM_181713	NP_859064	P68543	UBX2A_HUMAN	UBX domain containing 4	98	SEP.										0						TCCAAGGGAATTACCTTCAGA	0.303													A	24205770	T	A	24205770	3	1	27	1	0	0	0	0	1	0	0	0	16911	1490	52	5	306	5	UBXN2A	2	24205770	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	11552	24205770	218993603	888	24839											
ITSN2	50618	broad.mit.edu	37	chr2	24493619	24493619	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataatgctctataattcaccAaaacactagctgtctcacct	3	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:24493619A>G	uc002rfe.2	-	20	2534	c.2276T>C	c.(2275-2277)TTG>TCG	p.L759S	ITSN2_uc002rff.2_Missense_Mutation_p.L732S|ITSN2_uc002rfg.2_Missense_Mutation_p.L759S	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	759	SH3 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATAATTCACCAAAACACTAGC	0.323													G	24493619	A	G	24493619	3	3	27	1	0	0	0	0	1	0	0	0	7927	131	5	3	2952	3	ITSN2	2	24493619	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	287849	24493619	218705754	889	24840											
ITSN2	50618	broad.mit.edu	37	chr2	24533475	24533475	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cattaagggaggaaggttggTccctgaagtcgcagaagaca	14	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:24533475T>A	uc002rfe.2	-	6	697	c.439A>T	c.(439-441)ACC>TCC	p.T147S	ITSN2_uc002rff.2_Missense_Mutation_p.T147S|ITSN2_uc002rfg.2_Missense_Mutation_p.T147S|ITSN2_uc010eyd.2_Missense_Mutation_p.T147S	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	147					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAGGTTGGTCCCTGAAGTC	0.483													A	24533475	T	A	24533475	3	1	27	1	0	0	0	0	1	0	0	0	7927	1667	58	5	4845	5	ITSN2	2	24533475	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	39856	24533475	218665898	890	24841											
NCOA1	8648	broad.mit.edu	37	chr2	24927967	24927967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaacagtgatgactcgtgGcactgcctccagcccctcct	9	15	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:24927967G>A	uc002rfk.2	+	10	1220	c.962G>A	c.(961-963)GGC>GAC	p.G321D	NCOA1_uc010eye.2_Missense_Mutation_p.G321D|NCOA1_uc002rfi.2_Missense_Mutation_p.G170D|NCOA1_uc002rfj.2_Missense_Mutation_p.G321D|NCOA1_uc002rfl.2_Missense_Mutation_p.G321D	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	321									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGACTCGTGGCACTGCCTCC	0.423			T	PAX3	alveolar rhadomyosarcoma								A	24927967	G	A	24927967	3	1	27	1	0	0	0	0	1	0	0	0	10228	1203	42	2	992	2	NCOA1	2	24927967	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	394492	24927967	218271406	891	24842											
NCOA1	8648	broad.mit.edu	37	chr2	24929562	24929562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgttcatccacattgccacCatccaacagcaacatggtat	5	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:24929562C>T	uc002rfk.2	+	11	1481	c.1223C>T	c.(1222-1224)CCA>CTA	p.P408L	NCOA1_uc010eye.2_Missense_Mutation_p.P408L|NCOA1_uc002rfi.2_Missense_Mutation_p.P257L|NCOA1_uc002rfj.2_Missense_Mutation_p.P408L|NCOA1_uc002rfl.2_Missense_Mutation_p.P408L	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	408	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATTGCCACCATCCAACAGC	0.473			T	PAX3	alveolar rhadomyosarcoma								T	24929562	C	T	24929562	3	4	27	1	0	0	0	0	1	0	0	0	10228	594	21	4	1257	4	NCOA1	2	24929562	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1595	24929562	218269811	892	24843											
CENPO	79172	broad.mit.edu	37	chr2	25037355	25037355	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccattctgcaggcatatcaTtttacaggttttgtttgttt	8	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:25037355T>A	uc002rfo.1	+	4	516	c.327T>A	c.(325-327)CAT>CAA	p.H109Q	CENPO_uc002rfn.2_Missense_Mutation_p.H109Q|CENPO_uc002rfp.1_Missense_Mutation_p.H103Q|CENPO_uc002rfq.1_Missense_Mutation_p.H109Q	NM_024322	NP_077298	Q9BU64	CENPO_HUMAN	centromere protein O	109	Potential.				cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGGCATATCATTTTACAGGTT	0.368													A	25037355	T	A	25037355	3	1	27	1	0	0	0	0	1	0	0	0	3239	1490	52	5	337	5	CENPO	2	25037355	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	107793	25037355	218162018	893	24844											
POMC	5443	broad.mit.edu	37	chr2	25384290	25384290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggtacaccttcactgggCgccgcttcttgcccaccggc	11	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:25384290C>T	uc002rfy.1	-	4	727	c.464G>A	c.(463-465)CGC>CAC	p.R155H	POMC_uc002rfz.1_Missense_Mutation_p.R155H|POMC_uc002rga.1_Missense_Mutation_p.R155H	NM_001035256	NP_001030333	P01189	COLI_HUMAN	proopiomelanocortin preproprotein	155					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	CTTCACTGGGCGCCGCTTCTT	0.697													T	25384290	C	T	25384290	3	4	27	1	0	0	0	0	1	0	0	0	12242	768	27	1	343	1	POMC	2	25384290	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	346935	25384290	217815083	894	24845											
DNMT3A	1788	broad.mit.edu	37	chr2	25463242	25463242	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attctcaaagagccagaagaAggggcgatcatctccctcct	9	12	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:25463242A>T	uc002rgc.2	-	19	2508	c.2251T>A	c.(2251-2253)TTC>ATC	p.F751I	DNMT3A_uc002rgd.2_Missense_Mutation_p.F751I|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.F562I	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	751					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCCAGAAGAAGGGGCGATCA	0.572			Mis|F|N|S		AML								T	25463242	A	T	25463242	3	4	27	1	0	0	0	0	1	0	0	0	4676	72	3	5	507	5	DNMT3A	2	25463242	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	78952	25463242	217736131	895	24846											
HADHA	3030	broad.mit.edu	37	chr2	26437359	26437359	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcctttagtctgctttcGcactttttcttccacttttt	5	11	2	0	rs137852775		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:26437359G>A	uc002rgy.2	-	9	1001	c.871C>T	c.(871-873)CGA>TGA	p.R291*	HADHA_uc010yks.1_Nonsense_Mutation_p.R204*|HADHA_uc010ykt.1_Nonsense_Mutation_p.R204*	NM_000182	NP_000173	P40939	ECHA_HUMAN	mitochondrial trifunctional protein, alpha	291					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	GTCTGCTTTCGCACTTTTTCT	0.343													A	26437359	G	A	26437359	4	1	27	1	0	0	0	0	0	1	0	0	6943	1095	38	1	1468	1	HADHA	2	26437359	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	974117	26437359	216762014	896	24847											
HADHB	3032	broad.mit.edu	37	chr2	26502916	26502916	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttcctcactggagcagaTggccaaactaaaacctgcat	7	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:26502916T>C	uc002rgz.2	+	10	1117	c.866T>C	c.(865-867)ATG>ACG	p.M289T	HADHB_uc010ykv.1_Missense_Mutation_p.M267T|HADHB_uc010ykw.1_Missense_Mutation_p.M274T|HADHB_uc002rha.2_Missense_Mutation_p.M166T|HADHB_uc010ykx.1_Missense_Mutation_p.M215T	NM_000183	NP_000174	P55084	ECHB_HUMAN	mitochondrial trifunctional protein, beta	289					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGAGCAGATGGCCAAACTA	0.378													C	26502916	T	C	26502916	3	2	27	1	0	0	0	0	1	0	0	0	6944	1464	51	3	900	3	HADHB	2	26502916	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	65557	26502916	216696457	897	24848											
C2orf39	92749	broad.mit.edu	37	chr2	26644259	26644259	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcgaagaagaggagataaAgcgtcaaaggtaaggactgt	14	4	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:26644259A>C	uc002rhg.2	+	3	421	c.347A>C	c.(346-348)AAG>ACG	p.K116T	C2orf39_uc010eym.1_RNA	NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	116	Potential.										0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGAGATAAAGCGTCAAAGG	0.488													C	26644259	A	C	26644259	3	2	27	1	0	0	0	0	1	0	0	0	2164	72	3	5	357	5	C2orf39	2	26644259	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	141343	26644259	216555114	898	24849											
C2orf39	92749	broad.mit.edu	37	chr2	26676390	26676390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctcaagattctggaggCcttcgtcatgggtctgaaga	12	9	4	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:26676390C>T	uc002rhg.2	+	14	1966	c.1892C>T	c.(1891-1893)GCC>GTC	p.A631V		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	631											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCTGGAGGCCTTCGTCATG	0.488													T	26676390	C	T	26676390	3	4	27	1	0	0	0	0	1	0	0	0	2164	739	26	2	1946	2	C2orf39	2	26676390	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	32131	26676390	216522983	899	24850											
OTOF	9381	broad.mit.edu	37	chr2	26686909	26686909	+	Frame_Shift_Del	DEL	G	G	-													caccaggcggcagcctgcgcGggggatgtcctcccagtgcc					rs143889717		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:26686908_26686908CG>C	uc002rhk.3	-	39	5154	c.5027_5027CG>G	c.(5026-5028)cgcfs	p.R1676fs	OTOF_uc010yla.2_Frame_Shift_Del_p.R406fs|OTOF_uc002rhh.3_Frame_Shift_Del_p.R909fs|OTOF_uc002rhi.3_Frame_Shift_Del_p.R986fs|OTOF_uc002rhj.3_Frame_Shift_Del_p.R909fs	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1676					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGCCTGCGCGGGGGATGTC	0.667													-	26686909	G	-	26686909	7	5	27	1	0	1	0	1	0	0	0	0	11303	1116	39	0	1180	0	OTOF	2	26686909	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	10519	26686909	216512464	900	24851											
OTOF	9381	broad.mit.edu	37	chr2	26695445	26695445	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacctctggctccatagtcAccacaacctcccctgtggag	8	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:26695445A>G	uc002rhk.2	-	30	3933	c.3806T>C	c.(3805-3807)GTG>GCG	p.V1269A	OTOF_uc010yla.1_5'UTR|OTOF_uc002rhh.2_Missense_Mutation_p.V502A|OTOF_uc002rhi.2_Missense_Mutation_p.V579A|OTOF_uc002rhj.2_Missense_Mutation_p.V502A	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1269	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCATAGTCACCACAACCTC	0.607													G	26695445	A	G	26695445	3	3	27	1	0	0	0	0	1	0	0	0	11303	159	6	3	2440	3	OTOF	2	26695445	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	8536	26695445	216503928	901	24852											
OTOF	9381	broad.mit.edu	37	chr2	26702518	26702518	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcaacttcgttcccatagTtgcctggagcagaatgggcc	10	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:26702518T>C	uc002rhk.2	-	17	2043	c.1916A>G	c.(1915-1917)AAC>AGC	p.N639S	OTOF_uc002rhh.2_5'Flank|OTOF_uc002rhi.2_5'Flank|OTOF_uc002rhj.2_5'Flank	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	639	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTCCCATAGTTGCCTGGAGC	0.622													C	26702518	T	C	26702518	3	2	27	1	0	0	0	0	1	0	0	0	11303	1725	60	3	4526	3	OTOF	2	26702518	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	7073	26702518	216496855	902	24853											
OTOF	9381	broad.mit.edu	37	chr2	26741942	26741942	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacatggctctcctctaccAccttctgcagcaccatgcgg	7	18	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:26741942A>G	uc002rhk.2	-	4	390	c.263T>C	c.(262-264)GTG>GCG	p.V88A	OTOF_uc010ylb.1_5'Flank	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	88	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCTCTACCACCTTCTGCAG	0.562													G	26741942	A	G	26741942	3	3	27	1	0	0	0	0	1	0	0	0	11303	159	6	3	6231	3	OTOF	2	26741942	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	39424	26741942	216457431	903	24854											
DPYSL5	56896	broad.mit.edu	37	chr2	27162933	27162933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtggcatcagatcaccggCctttcaccacaaagcagaaa	8	13	3	2	rs147693720		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:27162933C>T	uc002rhu.3	+	9	1140	c.982C>T	c.(982-984)CCT>TCT	p.P328S	DPYSL5_uc002rhv.3_Missense_Mutation_p.P328S	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	328					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGATCACCGGCCTTTCACCAC	0.542													T	27162933	C	T	27162933	3	4	27	1	0	0	0	0	1	0	0	0	4750	739	26	2	1012	2	DPYSL5	2	27162933	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	420991	27162933	216036440	904	24855											
EMILIN1	11117	broad.mit.edu	37	chr2	27305786	27305786	+	Frame_Shift_Del	DEL	G	G	-													cggggccgactagagcagttGggggggctgctggccaatgt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:27305786delG	uc002rii.3	+	4	1775	c.1347delG	c.(1345-1347)TTGfs	p.L449fs	EMILIN1_uc010eyq.1_Frame_Shift_Del_p.L449fs|EMILIN1_uc002rik.3_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	449					cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGAGCAGTTGGGGGGGCTGC	0.711													-	27305786	G	-	27305786	7	5	27	1	0	1	0	1	0	0	0	0	5093	1339	47	0	1361	0	EMILIN1	2	27305786	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	142853	27305786	215893587	905	24856											
CAD	790	broad.mit.edu	37	chr2	27449763	27449763	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gattattgtgtggtgaagatTcctcgatgggaccttagcaa	12	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:27449763T>A	uc002rji.2	+	15	2382	c.2220T>A	c.(2218-2220)ATT>ATA	p.I740I	CAD_uc010eyw.2_Silent_p.I677I	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	740	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGGTGAAGATTCCTCGATGGG	0.567													A	27449763	T	A	27449763	2	1	27	1	0	0	0	0	0	0	0	1	2565	1771	62	5		5	CAD	2	27449763	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	143977	27449763	215749610	906	24857											
SLC30A3	7781	broad.mit.edu	37	chr2	27481702	27481702	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgcagcctctcaggggTaaggcccggcggcggaaggg	18	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:27481702T>C	uc002rjk.2	-	2	382	c.196A>G	c.(196-198)ACC>GCC	p.T66A	SLC30A3_uc002rjj.2_5'Flank|SLC30A3_uc010ylh.1_Missense_Mutation_p.T61A	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter),	66	Cytoplasmic (Potential).				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTCAGGGGTAAGGCCCGGC	0.627													C	27481702	T	C	27481702	3	2	27	1	0	0	0	0	1	0	0	0	14556	1638	57	3	998	3	SLC30A3	2	27481702	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	31939	27481702	215717671	907	24858											
TRIM54	57159	broad.mit.edu	37	chr2	27529138	27529138	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccggagccaggctatgagagCatggagcaattcaccgtaag	13	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:27529138C>A	uc002rjo.2	+	7	924	c.924C>A	c.(922-924)AGC>AGA	p.S308R	TRIM54_uc002rjn.2_Missense_Mutation_p.S350R	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	ring finger protein 30 isoform 2	308	COS.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTATGAGAGCATGGAGCAAT	0.657													A	27529138	C	A	27529138	3	1	27	1	0	0	0	0	1	0	0	0	16525	709	25	5	1080	5	TRIM54	2	27529138	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	47436	27529138	215670235	908	24859											
GTF3C2	2976	broad.mit.edu	37	chr2	27560373	27560373	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agataacaagtgccacttccAggctaaaggaatccactcag	8	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:27560373A>G	uc002rjv.1	-	7	1366	c.1003T>C	c.(1003-1005)TGG>CGG	p.W335R	GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rju.1_Missense_Mutation_p.W346R|GTF3C2_uc002rjw.1_Missense_Mutation_p.W335R|GTF3C2_uc010eyz.1_Missense_Mutation_p.W335R|uc002rjy.1_RNA	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	335						transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCACTTCCAGGCTAAAGGA	0.468													G	27560373	A	G	27560373	3	3	27	1	0	0	0	0	1	0	0	0	6873	188	7	3	1788	3	GTF3C2	2	27560373	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	31235	27560373	215639000	909	24860											
ZNF513	130557	broad.mit.edu	37	chr2	27603013	27603018	+	In_Frame_Del	DEL	TCCTCT	TCCTCT	-													cactgttgccgtcgccttccTcctcttcctcttcctcctca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:27603012_27603017CTCCTCT>C	uc002rkk.3	-	1	372_377	c.154_159AGAGGAG>G	c.(154-159)gaggag>G	p.EE52del	ZNF513_uc002rkj.3_5'UTR	NM_144631	NP_001188388	Q8N8E2	ZN513_HUMAN	Homo sapiens zinc finger protein 513 (ZNF513), transcript variant 1, mRNA.	52	Poly-Glu.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTCGCCTTCCTCCTCTTCCTCTTCC	0.568													-	27603018	TCCTCT	-	27603013	7	5	27	1	0	1	0	1	0	0	0	0	17955	1551	54	0	1479	0	ZNF513	2	27603013	In_Frame_Del	DEL	TCCTCT	TCGA-BR-6452-01A-12D-1800-08	42640	27603013	215596360	910	24861											
IFT172	26160	broad.mit.edu	37	chr2	27676295	27676295	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgctgtttccagagtctcGcactttgaggtagcagtcca	11	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:27676295G>A	uc002rku.2	-	35	3958	c.3907C>T	c.(3907-3909)CGA>TGA	p.R1303*	IFT172_uc010ezb.2_RNA	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	1303	TPR 10.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CCAGAGTCTCGCACTTTGAGG	0.582													A	27676295	G	A	27676295	4	1	27	1	0	0	0	0	0	1	0	0	7557	1095	38	1	1398	1	IFT172	2	27676295	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	73282	27676295	215523078	911	24862											
IFT172	26160	broad.mit.edu	37	chr2	27680796	27680796	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcatacaacttgtgctttTtgtacatggtgatggcaaga	9	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:27680796T>C	uc002rku.2	-	28	3074	c.3023A>G	c.(3022-3024)AAA>AGA	p.K1008R		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	1008					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CTTGTGCTTTTTGTACATGGT	0.512													C	27680796	T	C	27680796	3	2	27	1	0	0	0	0	1	0	0	0	7557	1841	64	3	2310	3	IFT172	2	27680796	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4501	27680796	215518577	912	24863											
IFT172	26160	broad.mit.edu	37	chr2	27682682	27682682	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccactgggaaggccaatcGagccagctctaccgctgcca	10	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:27682682G>A	uc002rku.2	-	24	2587	c.2536C>T	c.(2536-2538)CGA>TGA	p.R846*		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	846					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					AAGGCCAATCGAGCCAGCTCT	0.552													A	27682682	G	A	27682682	4	1	27	1	0	0	0	0	0	1	0	0	7557	1066	37	1	2813	1	IFT172	2	27682682	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1886	27682682	215516691	913	24864											
IFT172	26160	broad.mit.edu	37	chr2	27703943	27703943	+	Frame_Shift_Del	DEL	C	C	-													ttcctagcacaacagactggCccccaggacttgatacagct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:27703942_27703942GC>G	uc002rku.3	-	7	807	c.756_756GC>C	c.(754-756)ggcfs	p.G252fs	IFT172_uc002rkv.3_Frame_Shift_Del_p.G252fs|IFT172_uc010yls.2_Frame_Shift_Del_p.G231fs|IFT172_uc010ezc.3_Frame_Shift_Del_p.G252fs	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	252					cilium assembly	cilium	binding	p.G252G(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAACAGACTGGCCCCCAGGAC	0.463													-	27703943	C	-	27703943	7	5	27	1	0	1	0	1	0	0	0	0	7557	739	26	0	4658	0	IFT172	2	27703943	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	21261	27703943	215495430	914	24865											
C2orf16	84226	broad.mit.edu	37	chr2	27804215	27804215	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctcagaggagccactgcagTccctctaggaaaaaccattc	8	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:27804215T>A	uc002rkz.3	+	1	4827	c.4776T>A	c.(4774-4776)AGT>AGA	p.S1592R	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1592	Arg-rich.									large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					GCCACTGCAGTCCCTCTAGGA	0.542													A	27804215	T	A	27804215	3	1	27	1	0	0	0	0	1	0	0	0	2157	1664	58	5	4778	5	C2orf16	2	27804215	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	100272	27804215	215395158	915	24866											
PLB1	151056	broad.mit.edu	37	chr2	28739692	28739692	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggacccctcagatccatAcctctcctagaaagagtaca	7	14	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:28739692A>G	uc002rmb.1	+	2	73	c.73A>G	c.(73-75)ACC>GCC	p.T25A	PLB1_uc010ezj.1_Missense_Mutation_p.T25A	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	25	Extracellular (Potential).				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					TCAGATCCATACCTCTCCTAG	0.483													G	28739692	A	G	28739692	3	3	27	1	0	0	0	0	1	0	0	0	12024	391	14	3	79	3	PLB1	2	28739692	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	935477	28739692	214459681	916	24867											
PPP1CB	5500	broad.mit.edu	37	chr2	28999850	28999850	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgctgaaaatttgtggTatgtaaatgggtaaagttgg	13	4	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:28999850T>C	uc002rmg.2	+	3	344	c.184_splice	c.e3+2	p.G62_splice	PPP1CB_uc010ymj.1_Splice_Site_p.G34_splice|PPP1CB_uc010ymk.1_Splice_Site_p.G34_splice|PPP1CB_uc010yml.1_Splice_Site_p.G34_splice|PPP1CB_uc002rmh.2_Splice_Site_p.G62_splice	NM_206876	NP_996759	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta						cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			skin(1)	1	Acute lymphoblastic leukemia(172;0.155)					AAATTTGTGGTATGTAAATGG	0.358													C	28999850	T	C	28999850	5	2	27	1	0	0	0	0	0	0	1	0	12350	1652	57	3	192	3	PPP1CB	2	28999850	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	260158	28999850	214199523	917	24868											
C2orf71	388939	broad.mit.edu	37	chr2	29287753	29287753	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaggacacctcctcttgCtggggctgcgcctctggctg	13	14	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:29287753C>A	uc002rmt.1	-	2	3849	c.3849G>T	c.(3847-3849)CAG>CAT	p.Q1283H		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	1283					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						CCTCCTCTTGCTGGGGCTGCG	0.642													A	29287753	C	A	29287753	3	1	27	1	0	0	0	0	1	0	0	0	2191	796	28	5	21	5	C2orf71	2	29287753	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	287903	29287753	213911620	918	24869											
CLIP4	79745	broad.mit.edu	37	chr2	29386758	29386758	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgatggttcagttggaggTgtgcagtattttagctgttc	13	4	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:29386758T>C	uc002rmv.2	+	13	1835	c.1596T>C	c.(1594-1596)GGT>GGC	p.G532G	CLIP4_uc002rmu.2_Silent_p.G532G|CLIP4_uc002rmw.2_RNA	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	532	CAP-Gly 2.									ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					CAGTTGGAGGTGTGCAGTATT	0.373													C	29386758	T	C	29386758	2	2	27	1	0	0	0	0	0	0	0	1	3535	1683	59	3		3	CLIP4	2	29386758	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	99005	29386758	213812615	919	24870											
YPEL5	51646	broad.mit.edu	37	chr2	30381637	30381637	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgatataaggaaggccgCgtgatcctggaacgtgctct	13	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:30381637C>T	uc002rna.3	+	5	855	c.294C>T	c.(292-294)CGC>CGT	p.R98R	YPEL5_uc002rnb.3_Silent_p.R98R|YPEL5_uc002rnc.3_Silent_p.R98R|YPEL5_uc002rmz.3_Silent_p.R98R|YPEL5_uc010ezn.2_RNA|YPEL5_uc002rnd.2_Silent_p.R98R	NM_001127401	NP_001120873	P62699	YPEL5_HUMAN	yippee-like 5	98							peptide-methionine-(S)-S-oxide reductase activity				0	Acute lymphoblastic leukemia(172;0.155)					AGGAAGGCCGCGTGATCCTGG	0.478													T	30381637	C	T	30381637	2	4	27	1	0	0	0	0	0	0	0	1	17490	755	27	1		1	YPEL5	2	30381637	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	994879	30381637	212817736	920	24871											
LCLAT1	253558	broad.mit.edu	37	chr2	30682536	30682536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccatggtcaattaacgagGcagtttctagctactgcacg	9	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:30682536G>A	uc002rnj.2	+	2	267	c.58G>A	c.(58-60)GCA>ACA	p.A20T	LCLAT1_uc010ymp.1_Intron|LCLAT1_uc002rnk.1_Missense_Mutation_p.A20T|LCLAT1_uc002rnl.2_Intron|LCLAT1_uc010ymq.1_5'UTR	NM_182551	NP_872357	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1 isoform 1	20					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			ovary(2)	2						AATTAACGAGGCAGTTTCTAG	0.418													A	30682536	G	A	30682536	3	1	27	1	0	0	0	0	1	0	0	0	8677	1203	42	2	60	2	LCLAT1	2	30682536	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	300899	30682536	212516837	921	24872											
CAPN13	92291	broad.mit.edu	37	chr2	30966412	30966412	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagtgtttctgaacgaggAaaaaaacacgggtggaaatt	12	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:30966412A>G	uc002rnn.2	-	12	1458	c.1282T>C	c.(1282-1284)TCC>CCC	p.S428P	CAPN13_uc002rnm.2_RNA|CAPN13_uc002rno.2_5'UTR	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	calpain 13	428					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			large_intestine(1)|ovary(1)	2	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CTGAACGAGGAAAAAAACACG	0.468													G	30966412	A	G	30966412	3	3	27	1	0	0	0	0	1	0	0	0	2626	246	9	3	767	3	CAPN13	2	30966412	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	283876	30966412	212232961	922	24873											
XDH	7498	broad.mit.edu	37	chr2	31562486	31562486	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaggctcccctcgggggAatagtgtagctcctctaggg	15	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:31562486A>G	uc002rnv.1	-	34	3722	c.3643T>C	c.(3643-3645)TCC>CCC	p.S1215P		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	1215					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCCTCGGGGGAATAGTGTAGC	0.602													G	31562486	A	G	31562486	3	3	27	1	0	0	0	0	1	0	0	0	17423	246	9	3	370	3	XDH	2	31562486	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	596074	31562486	211636887	923	24874											
XDH	7498	broad.mit.edu	37	chr2	31588888	31588888	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacaccacagtgctccgggTctccttgcctccaaagcctc	9	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:31588888T>C	uc002rnv.1	-	22	2489	c.2410A>G	c.(2410-2412)ACC>GCC	p.T804A		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	804					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTGCTCCGGGTCTCCTTGCCT	0.527													C	31588888	T	C	31588888	3	2	27	1	0	0	0	0	1	0	0	0	17423	1667	58	3	1651	3	XDH	2	31588888	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	26402	31588888	211610485	924	24875											
SLC30A6	55676	broad.mit.edu	37	chr2	32417985	32417985	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatatttttatttcttatAgtgcagaacgctttttggaa	6	4	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:32417985A>G	uc002roe.1	+	7	403	c.366_splice	c.e7-2	p.S122_splice	SLC30A6_uc002rof.1_Splice_Site_p.S162_splice|SLC30A6_uc010ymw.1_Splice_Site_p.S93_splice|SLC30A6_uc010ezr.1_Splice_Site_p.S122_splice|SLC30A6_uc002rog.1_Splice_Site|SLC30A6_uc010ezs.1_Splice_Site_p.S48_splice|SLC30A6_uc002roh.1_Splice_Site	NM_017964	NP_060434	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter),							Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					tatttCTTATAGTGCAGAACG	0.229													G	32417985	A	G	32417985	5	3	27	1	0	0	0	0	0	0	1	0	14559	434	15	3	390	3	SLC30A6	2	32417985	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	829097	32417985	210781388	925	24876											
NLRC4	58484	broad.mit.edu	37	chr2	32476209	32476209	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaagaaggaaaagaacccTctgccgcagcttcagcagca	9	12	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:32476209T>G	uc002roi.2	-	4	970	c.724A>C	c.(724-726)AGG>CGG	p.R242R	NLRC4_uc002roj.1_Silent_p.R242R|NLRC4_uc010ezt.1_Intron	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	242	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AAAAGAACCCTCTGCCGCAGC	0.488													G	32476209	T	G	32476209	2	3	27	1	0	0	0	0	0	0	0	1	10469	1550	54	5		5	NLRC4	2	32476209	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	58224	32476209	210723164	926	24877											
BIRC6	57448	broad.mit.edu	37	chr2	32694625	32694625	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggtggggtcaatttctttCtaatgtccttcaggaattgt	11	6	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:32694625C>T	uc010ezu.2	+	30	6424	c.6290C>T	c.(6289-6291)TCT>TTT	p.S2097F		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2097					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CAATTTCTTTCTAATGTCCTT	0.408													T	32694625	C	T	32694625	3	4	27	1	0	0	0	0	1	0	0	0	1438	913	32	4	6408	4	BIRC6	2	32694625	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	218416	32694625	210504748	927	24878											
BIRC6	57448	broad.mit.edu	37	chr2	32724640	32724640	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttccagacaggccaaggacCtctcgatgcccaagtgaagc	10	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:32724640C>A	uc010ezu.2	+	46	8629	c.8495C>A	c.(8494-8496)CCT>CAT	p.P2832H		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2832					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					GGCCAAGGACCTCTCGATGCC	0.328													A	32724640	C	A	32724640	3	1	27	1	0	0	0	0	1	0	0	0	1438	681	24	5	8677	5	BIRC6	2	32724640	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	30015	32724640	210474733	928	24879											
BIRC6	57448	broad.mit.edu	37	chr2	32800229	32800229	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttctccttatagttctggAcatggcaagacatgtgccac	8	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:32800229A>G	uc010ezu.2	+	66	13285	c.13151A>G	c.(13150-13152)GAC>GGC	p.D4384G		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	4384					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					ATAGTTCTGGACATGGCAAGA	0.453													G	32800229	A	G	32800229	3	3	27	1	0	0	0	0	1	0	0	0	1438	275	10	3	13413	3	BIRC6	2	32800229	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	75589	32800229	210399144	929	24880											
TTC27	55622	broad.mit.edu	37	chr2	33036137	33036137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gattgatgggatgactgatcGaagtggagatgttgcaactg	15	4	0	4	rs147021005		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:33036137G>A	uc002rom.2	+	17	2276	c.2045G>A	c.(2044-2046)CGA>CAA	p.R682Q	TTC27_uc010ymx.1_Missense_Mutation_p.R632Q|TTC27_uc002ron.2_RNA	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	682							protein binding			central_nervous_system(1)	1						ATGACTGATCGAAGTGGAGAT	0.408													A	33036137	G	A	33036137	3	1	27	1	0	0	0	0	1	0	0	0	16692	1058	37	1	2111	1	TTC27	2	33036137	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	235908	33036137	210163236	930	24881											
LTBP1	4052	broad.mit.edu	37	chr2	33477753	33477753	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcttcagctgatccccCtgtgatctcggaagagaaag	10	12	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:33477753C>A	uc002ros.2	+	11	2009	c.2009C>A	c.(2008-2010)CCT>CAT	p.P670H	LTBP1_uc002rot.2_Missense_Mutation_p.P344H|LTBP1_uc002rou.2_Missense_Mutation_p.P344H|LTBP1_uc002rov.2_Missense_Mutation_p.P344H|LTBP1_uc010ymz.1_Missense_Mutation_p.P344H|LTBP1_uc010yna.1_Missense_Mutation_p.P344H	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	670					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCTGATCCCCCTGTGATCTCG	0.463													A	33477753	C	A	33477753	3	1	27	1	0	0	0	0	1	0	0	0	9073	681	24	5	2106	5	LTBP1	2	33477753	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	441616	33477753	209721620	931	24882											
LTBP1	4052	broad.mit.edu	37	chr2	33589422	33589423	+	Missense_Mutation	DNP	CG	CG	TA													atacgaccggctgagtcaaaCggtatgtttccaggagatgc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:33589422_33589423CG>TA	uc002ros.2	+	30	4542_4543	c.4542_4543CG>TA	c.(4540-4545)AACGAA>AATAAA	p.E1515K	LTBP1_uc002rot.2_Missense_Mutation_p.E1189K|LTBP1_uc002rou.2_Missense_Mutation_p.E1188K|LTBP1_uc002rov.2_Missense_Mutation_p.E1135K|LTBP1_uc010ymz.1_Missense_Mutation_p.E1146K|LTBP1_uc010yna.1_Missense_Mutation_p.E1093K|LTBP1_uc010ynb.1_Missense_Mutation_p.E412K	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1514					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGAGTCAAACGGTATGTTTCC	0.401													TA	33589423	CG	TA	33589422	3	4	27	1	0	0	0	0	1	0	0	0	9073	550	19	1	4712	1	LTBP1	2	33589422	Missense_Mutation	DNP	CG	TCGA-BR-6452-01A-12D-1800-08	111669	33589422	209609951	932	24883											
FAM98A	25940	broad.mit.edu	37	chr2	33810274	33810274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctccttgatgcttatttcCtcttcctccccctcggccac	5	19	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:33810274C>T	uc002rpa.1	-	8	1200	c.1126G>A	c.(1126-1128)GGA>AGA	p.G376R	FAM98A_uc010yne.1_Missense_Mutation_p.G181R|FAM98A_uc010ynd.1_Missense_Mutation_p.G207R|FAM98A_uc002roz.1_Missense_Mutation_p.G214R	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	hypothetical protein LOC25940	377	Gly-rich.									ovary(1)	1	all_hematologic(175;0.115)					TGCTTATTTCCTCTTCCTCCC	0.557													T	33810274	C	T	33810274	3	4	27	1	0	0	0	0	1	0	0	0	5656	690	24	4	434	4	FAM98A	2	33810274	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	220852	33810274	209389099	933	24884											
FAM98A	25940	broad.mit.edu	37	chr2	33813402	33813402	+	Splice_Site	DEL	T	T	-													tttggtactaaaggtcttacTtttttttcaatcccgctgaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:33813401_33813401CT>C	uc002rpa.1	-	4	596	c.522_splice	c.e4+1	p.K174_splice	FAM98A_uc010yne.1_Intron|FAM98A_uc010ynd.1_5'Flank|FAM98A_uc002roz.1_Intron	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	Homo sapiens family with sequence similarity 98, member A (FAM98A), mRNA.	174										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					AAAGGTCTTACTTTTTTTTCA	0.338													-	33813402	T	-	33813402	8	5	27	1	0	1	0	1	0	0	1	0	5656	1623	56	0	1054	0	FAM98A	2	33813402	Splice_Site	DEL	T	TCGA-BR-6452-01A-12D-1800-08	3128	33813402	209385971	934	24885											
CRIM1	51232	broad.mit.edu	37	chr2	36764546	36764546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagtgggaaggcctatgCcgacgaggagcggtgggacc	17	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:36764546C>T	uc002rpd.2	+	14	2519	c.2480C>T	c.(2479-2481)GCC>GTC	p.A827V		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	827	Extracellular (Potential).|VWFC 6.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AAGGCCTATGCCGACGAGGAG	0.577													T	36764546	C	T	36764546	3	4	27	1	0	0	0	0	1	0	0	0	3873	739	26	2	2534	2	CRIM1	2	36764546	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2951144	36764546	206434827	935	24886											
VIT	5212	broad.mit.edu	37	chr2	36982084	36982084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtgtgcttgataattcagGagggaaaatacttgttcgga	13	4	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:36982084G>A	uc002rpl.2	+	5	517	c.296G>A	c.(295-297)GGA>GAA	p.G99E	VIT_uc002rpk.2_Missense_Mutation_p.G92E|VIT_uc010ynf.1_Missense_Mutation_p.G92E|VIT_uc002rpm.2_Missense_Mutation_p.G92E|VIT_uc010ezv.2_Missense_Mutation_p.G92E|VIT_uc010ezw.2_Missense_Mutation_p.G92E	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	99	LCCL.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				GATAATTCAGGAGGGAAAATA	0.413													A	36982084	G	A	36982084	3	1	27	1	0	0	0	0	1	0	0	0	17168	1174	41	4	310	4	VIT	2	36982084	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	217538	36982084	206217289	936	24887											
HEATR5B	54497	broad.mit.edu	37	chr2	37255304	37255304	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttccactacttaagagagtTgcagtactcatatctataac	5	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:37255304T>C	uc002rpp.1	-	24	3711	c.3615A>G	c.(3613-3615)GCA>GCG	p.A1205A		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1205							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				TTAAGAGAGTTGCAGTACTCA	0.279													C	37255304	T	C	37255304	2	2	27	1	0	0	0	0	0	0	0	1	7032	1799	63	3		3	HEATR5B	2	37255304	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	273220	37255304	205944069	937	24888											
HEATR5B	54497	broad.mit.edu	37	chr2	37255956	37255956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgatctgtctcccggtctaGcattccaaaaagaagtccct	7	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:37255956G>A	uc002rpp.1	-	23	3565	c.3469C>T	c.(3469-3471)CTA>TTA	p.L1157L		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1157							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				TCCCGGTCTAGCATTCCAAAA	0.423													A	37255956	G	A	37255956	2	1	27	1	0	0	0	0	0	0	0	1	7032	962	34	2		2	HEATR5B	2	37255956	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	652	37255956	205943417	938	24889											
SULT6B1	391365	broad.mit.edu	37	chr2	37402358	37402358	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gattgcaaaatcaaaataccTtccccaagaaactaaaaaca	3	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:37402358T>G	uc002rpu.2	-	5	448	c.427A>C	c.(427-429)AGG>CGG	p.R143R	SULT6B1_uc010yni.1_Intron	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member	181						cytoplasm	sulfotransferase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(82;0.248)				TCAAAATACCTTCCCCAAGAA	0.299													G	37402358	T	G	37402358	2	3	27	1	0	0	0	0	0	0	0	1	15381	1608	56	5		5	SULT6B1	2	37402358	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	146402	37402358	205797015	939	24890											
CEBPZ	10153	broad.mit.edu	37	chr2	37442030	37442030	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actatattatgtatagtaccTgtggaaaaacacttcatcca	5	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:37442030T>C	uc002rpz.2	-	9	2476	c.2446A>G	c.(2446-2448)AGG>GGG	p.R816G		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	816					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				GTATAGTACCTGTGGAAAAAC	0.264													C	37442030	T	C	37442030	3	2	27	1	0	0	0	0	1	0	0	0	3204	1594	55	3	750	3	CEBPZ	2	37442030	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	39672	37442030	205757343	940	24891											
CEBPZ	10153	broad.mit.edu	37	chr2	37454697	37454697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttcttacctgtataatgCtgtgtaatatcgatccgata	7	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:37454697C>T	uc002rpz.2	-	2	1669	c.1639G>A	c.(1639-1641)GCA>ACA	p.A547T		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	547					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				CTGTATAATGCTGTGTAATAT	0.368													T	37454697	C	T	37454697	3	4	27	1	0	0	0	0	1	0	0	0	3204	797	28	2	1585	2	CEBPZ	2	37454697	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	12667	37454697	205744676	941	24892											
CEBPZ	10153	broad.mit.edu	37	chr2	37454859	37454859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctgggaataagggtatgCcctattcacacctgttaaaa	9	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:37454859C>T	uc002rpz.2	-	2	1507	c.1477G>A	c.(1477-1479)GCA>ACA	p.A493T		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	493					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				TAAGGGTATGCCCTATTCACA	0.368													T	37454859	C	T	37454859	3	4	27	1	0	0	0	0	1	0	0	0	3204	739	26	2	1747	2	CEBPZ	2	37454859	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	162	37454859	205744514	942	24893											
C2orf56	55471	broad.mit.edu	37	chr2	37459358	37459358	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tacaaaataaagtctactggTcccatcactgtggccgagta	8	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:37459358T>A	uc002rqa.3	+	2	240	c.165T>A	c.(163-165)GGT>GGA	p.G55G	CEBPZ_uc002rpz.2_5'Flank|C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Silent_p.G55G|C2orf56_uc010ynk.1_Silent_p.G55G|C2orf56_uc010ynl.1_Silent_p.G55G	NM_144736	NP_653337	Q7L592	MIDA_HUMAN	hypothetical protein LOC55471 isoform 1	55					mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity			central_nervous_system(1)	1		all_hematologic(82;0.21)				AGTCTACTGGTCCCATCACTG	0.522													A	37459358	T	A	37459358	2	1	27	1	0	0	0	0	0	0	0	1	2177	1654	58	5		5	C2orf56	2	37459358	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4499	37459358	205740015	943	24894											
C2orf56	55471	broad.mit.edu	37	chr2	37474636	37474636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcatgatgtcttaattgCcccaggaacagcagatctaa	8	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:37474636C>T	uc002rqa.3	+	9	1049	c.974C>T	c.(973-975)GCC>GTC	p.A325V	C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Missense_Mutation_p.A227V|C2orf56_uc010ynk.1_Missense_Mutation_p.A254V|C2orf56_uc010ynl.1_Missense_Mutation_p.A298V|C2orf56_uc010fah.2_RNA	NM_144736	NP_653337	Q7L592	MIDA_HUMAN	hypothetical protein LOC55471 isoform 1	325					mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity			central_nervous_system(1)	1		all_hematologic(82;0.21)				GTCTTAATTGCCCCAGGAACA	0.403													T	37474636	C	T	37474636	3	4	27	1	0	0	0	0	1	0	0	0	2177	739	26	2	1008	2	C2orf56	2	37474636	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	15278	37474636	205724737	944	24895											
CDC42EP3	10602	broad.mit.edu	37	chr2	37873127	37873127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggatggtcaaacatgtcctCggctggccagtcggggtact	15	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:37873127C>T	uc002rqi.1	-	2	1597	c.604G>A	c.(604-606)GAG>AAG	p.E202K		NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN	Cdc42 effector protein 3	202					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding				0		all_hematologic(82;0.172)				AACATGTCCTCGGCTGGCCAG	0.592													T	37873127	C	T	37873127	3	4	27	1	0	0	0	0	1	0	0	0	3077	893	31	1	164	1	CDC42EP3	2	37873127	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	398491	37873127	205326246	945	24896											
SFRS7	6432	broad.mit.edu	37	chr2	38975244	38975244	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agatcttctgagtgaagctgAtcttgatctacgaagagaga	11	6	4	7			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:38975244A>T	uc002rqz.2	-	5	755	c.517T>A	c.(517-519)TCA>ACA	p.S173T	SFRS7_uc002rra.2_RNA|SFRS7_uc010ynp.1_Missense_Mutation_p.S173T	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN	splicing factor, arginine/serine-rich 7	173	3.|6 X 8 AA repeats of R-R-S-R-S-X-S-X.|Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding				0		all_hematologic(82;0.248)				AGTGAAGCTGATCTTGATCTA	0.363													T	38975244	A	T	38975244	3	4	27	1	0	0	0	0	1	0	0	0	14182	333	12	5	215	5	SFRS7	2	38975244	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1102117	38975244	204224129	946	24897											
DHX57	90957	broad.mit.edu	37	chr2	39083499	39083499	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacccagtcataccacttatGacaaccacctggtgcttacg	6	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:39083499G>A	uc002rrf.2	-	7	1791	c.1692C>T	c.(1690-1692)GTC>GTT	p.V564V	DHX57_uc002rrd.3_5'Flank|DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Silent_p.V564V	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	564	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)				TACCACTTATGACAACCACCT	0.408													A	39083499	G	A	39083499	2	1	27	1	0	0	0	0	0	0	0	1	4513	1277	45	4		4	DHX57	2	39083499	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	108255	39083499	204115874	947	24898											
SOS1	6654	broad.mit.edu	37	chr2	39222407	39222407	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttctgtttcactttcagggAtcctactataactaattttc	4	9	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:39222407A>T	uc002rrk.3	-	20	3244	c.3203T>A	c.(3202-3204)ATC>AAC	p.I1068N	SOS1_uc002rrj.3_Missense_Mutation_p.I682N	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	1068					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				ACTTTCAGGGATCCTACTATA	0.478									Noonan_syndrome				T	39222407	A	T	39222407	3	4	27	1	0	0	0	0	1	0	0	0	14936	333	12	5	814	5	SOS1	2	39222407	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	138908	39222407	203976966	948	24899											
MAP4K3	8491	broad.mit.edu	37	chr2	39481646	39481646	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttccagaaagctagcacaCtgtcttgtaggcacactagc	9	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:39481646C>A	uc002rro.2	-	32	2577	c.2486G>T	c.(2485-2487)AGT>ATT	p.S829I	MAP4K3_uc002rrp.2_Missense_Mutation_p.S808I|MAP4K3_uc010yns.1_Missense_Mutation_p.S382I	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase	829	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|stomach(1)|pancreas(1)	8		all_hematologic(82;0.211)				AGCTAGCACACTGTCTTGTAG	0.363													A	39481646	C	A	39481646	3	1	27	1	0	0	0	0	1	0	0	0	9261	565	20	5	210	5	MAP4K3	2	39481646	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	259239	39481646	203717727	949	24900											
EML4	27436	broad.mit.edu	37	chr2	42522632	42522632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcaaaactactgtagagCccacacctgggaaaggacct	11	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:42522632C>T	uc002rsi.2	+	13	1727	c.1465C>T	c.(1465-1467)CCC>TCC	p.P489S	EML4_uc010fap.2_Missense_Mutation_p.P431S|EML4_uc002rsj.2_Missense_Mutation_p.P178S	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	489	WD 4.				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(246)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						TACTGTAGAGCCCACACCTGG	0.418			T	ALK	NSCLC								T	42522632	C	T	42522632	3	4	27	1	0	0	0	0	1	0	0	0	5099	739	26	2	1515	2	EML4	2	42522632	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3040986	42522632	200676741	950	24901											
KCNG3	170850	broad.mit.edu	37	chr2	42671387	42671387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcactaaagattgccatgGcaacacaaatgaagacaagt	9	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:42671387G>A	uc002rsn.2	-	2	1594	c.998C>T	c.(997-999)GCC>GTC	p.A333V	KCNG3_uc002rsm.2_Missense_Mutation_p.A322V	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G,	333	Helical; Name=Segment S5; (Potential).					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)	1						GATTGCCATGGCAACACAAAT	0.468													A	42671387	G	A	42671387	3	1	27	1	0	0	0	0	1	0	0	0	8029	1203	42	2	316	2	KCNG3	2	42671387	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	148755	42671387	200527986	951	24902											
HAAO	23498	broad.mit.edu	37	chr2	43015741	43015741	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatgactttgagctgctcCtggtgcctgcaatgcgcaaa	10	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:43015741C>T	uc002rst.3	-	2	162	c.87G>A	c.(85-87)CAG>CAA	p.Q29Q	HAAO_uc010ynw.1_Silent_p.Q29Q	NM_012205	NP_036337	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	29	Domain A (catalytic) (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding			ovary(1)	1						TGAGCTGCTCCTGGTGCCTGC	0.577													T	43015741	C	T	43015741	2	4	27	1	0	0	0	0	0	0	0	1	6937	680	24	4		4	HAAO	2	43015741	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	344354	43015741	200183632	952	24903											
THADA	63892	broad.mit.edu	37	chr2	43800084	43800085	+	Frame_Shift_Ins	INS	-	-	C													gccatcaaagctcccagagcINSccccctgctattacaagacc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:43800083_43800084G>GC	uc002rsw.4	-	11	2129_2130	c.1777_1778C>GC	c.(1777-1779)gctfs	p.A593fs	THADA_uc010far.3_5'Flank|THADA_uc002rsx.4_Frame_Shift_Ins_p.A593fs|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Frame_Shift_Ins_p.A303fs|THADA_uc010fat.1_5'Flank|THADA_uc002rta.2_Frame_Shift_Ins_p.A303fs|THADA_uc002rtb.1_Frame_Shift_Ins_p.A593fs|THADA_uc002rtc.4_Frame_Shift_Ins_p.A593fs|THADA_uc002rtd.3_Frame_Shift_Ins_p.A593fs	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	593							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGCTCCCAGAGCCCCCCTGCTA	0.441													C	43800085	-	C	43800084	7	5	27	1	0	1	1	0	0	0	0	0	15837	739	26	0	4192	0	THADA	2	43800084	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	784343	43800084	199399289	953	24904											
DYNC2LI1	51626	broad.mit.edu	37	chr2	44003961	44003961	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaagctgaagtggaaaaaAggggaattaatggaagtgaa	13	2	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:44003961A>G	uc002rtk.2	+	2	145	c.49A>G	c.(49-51)AGG>GGG	p.R17G	DYNC2LI1_uc002rth.2_Missense_Mutation_p.R17G|DYNC2LI1_uc002rti.2_Missense_Mutation_p.R17G|DYNC2LI1_uc002rtj.2_Missense_Mutation_p.R17G|DYNC2LI1_uc002rtl.2_Missense_Mutation_p.R17G|DYNC2LI1_uc010ynz.1_5'UTR	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN	dynein 2 light intermediate chain isoform 1	17						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGTGGAAAAAAGGGGAATTAA	0.323													G	44003961	A	G	44003961	3	3	27	1	0	0	0	0	1	0	0	0	4847	63	3	3	55	3	DYNC2LI1	2	44003961	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	203877	44003961	199195412	954	24905											
ABCG8	64241	broad.mit.edu	37	chr2	44104732	44104732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccaaagtgtccttcctgCggtggtgttttgaagggctg	13	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:44104732C>T	uc002rtq.2	+	12	1879	c.1789C>T	c.(1789-1791)CGG>TGG	p.R597W	ABCG8_uc010yoa.1_Missense_Mutation_p.R596W	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	597	ABC transmembrane type-2.|Extracellular (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GTCCTTCCTGCGGTGGTGTTT	0.498											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	44104732	C	T	44104732	3	4	27	1	0	0	0	0	1	0	0	0	72	759	27	1	1835	1	ABCG8	2	44104732	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	100771	44104732	199094641	955	24906											
SLC3A1	6519	broad.mit.edu	37	chr2	44539794	44539794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcaacgtgatgaacatgCttcttttcacactccctgga	7	11	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:44539794C>T	uc002ruc.3	+	8	1480	c.1402C>T	c.(1402-1404)CTT>TTT	p.L468F	SLC3A1_uc002rtz.2_Missense_Mutation_p.L468F|SLC3A1_uc002rua.2_Missense_Mutation_p.L468F|SLC3A1_uc002rub.2_Missense_Mutation_p.L468F|SLC3A1_uc002rud.3_Missense_Mutation_p.L190F|SLC3A1_uc002rue.3_Missense_Mutation_p.L88F	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	468	Extracellular (Potential).				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GATGAACATGCTTCTTTTCAC	0.408													T	44539794	C	T	44539794	3	4	27	1	0	0	0	0	1	0	0	0	14626	797	28	2	1432	2	SLC3A1	2	44539794	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	435062	44539794	198659579	956	24907											
PREPL	9581	broad.mit.edu	37	chr2	44550553	44550553	+	Splice_Site	DEL	A	A	-													aacatccaagaaaggtgcctAaaaaaaaggcaaagaaactt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:44550552_44550552TA>T	uc002ruf.3	-	11	2706	c.1747_splice	c.e11-1	p.A583_splice	PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	583					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAAAGGTGCCTAAAAAAAAGG	0.333													-	44550553	A	-	44550553	8	5	27	1	0	1	0	1	0	0	1	0	12475	377	13	0		0	PREPL	2	44550553	Splice_Site	DEL	A	TCGA-BR-6452-01A-12D-1800-08	10759	44550553	198648820	957	24908											
C2orf34	79823	broad.mit.edu	37	chr2	44599930	44599930	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatcatttaatctgtttTcagtaacagaaggcaaagaa	7	5	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:44599930T>C	uc002rum.2	+	2	318	c.214T>C	c.(214-216)TCA>CCA	p.S72P	C2orf34_uc002rul.2_Missense_Mutation_p.S72P	NM_024766	NP_079042	Q7Z624	CMKMT_HUMAN	hypothetical protein LOC79823	72						cytoplasm	calmodulin-lysine N-methyltransferase activity				0		all_hematologic(82;0.0892)|Acute lymphoblastic leukemia(82;0.17)				TAATCTGTTTTCAGTAACAGA	0.383													C	44599930	T	C	44599930	3	2	27	1	0	0	0	0	1	0	0	0	2163	1783	62	3	220	3	C2orf34	2	44599930	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	49377	44599930	198599443	958	24909											
EPAS1	2034	broad.mit.edu	37	chr2	46605883	46605883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcgccatggacacagagGccaaggaccaatgcagtacc	10	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:46605883G>A	uc002ruv.2	+	11	2019	c.1531G>A	c.(1531-1533)GCC>ACC	p.A511T	EPAS1_uc002ruw.2_5'Flank	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	511	NTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GGACACAGAGGCCAAGGACCA	0.512													A	46605883	G	A	46605883	3	1	27	1	0	0	0	0	1	0	0	0	5150	1203	42	2	1573	2	EPAS1	2	46605883	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2005953	46605883	196593490	959	24910											
FBXO11	80204	broad.mit.edu	37	chr2	48045997	48045997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccattgtcataaaaataaaCaccaacctaaaatttaaaaa	1	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:48045997C>T	uc010fbl.2	-	16	1789	c.1675G>A	c.(1675-1677)GTT>ATT	p.V559I	FBXO11_uc002rwe.2_Missense_Mutation_p.V559I|FBXO11_uc002rwf.2_Missense_Mutation_p.V559I|FBXO11_uc002rwg.1_Missense_Mutation_p.V559I|FBXO11_uc010fbk.2_Missense_Mutation_p.V67I	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	643	PbH1 11.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAAAAATAAACACCAACCtaa	0.318													T	48045997	C	T	48045997	3	4	27	1	0	0	0	0	1	0	0	0	5727	478	17	4	978	4	FBXO11	2	48045997	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1440114	48045997	195153376	960	24911											
FBXO11	80204	broad.mit.edu	37	chr2	48049367	48049367	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacgcttaccataaatgtcAtttccttcaataaggcctcg	5	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:48049367A>G	uc010fbl.2	-	13	1554	c.1440T>C	c.(1438-1440)AAT>AAC	p.N480N	FBXO11_uc002rwe.2_Silent_p.N480N|FBXO11_uc002rwf.2_Silent_p.N480N|FBXO11_uc002rwg.1_Silent_p.N480N|FBXO11_uc010fbk.2_Missense_Mutation_p.M20T	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	564	PbH1 8.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CATAAATGTCATTTCCTTCAA	0.308													G	48049367	A	G	48049367	2	3	27	1	0	0	0	0	0	0	0	1	5727	214	8	3		3	FBXO11	2	48049367	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3370	48049367	195150006	961	24912											
FBXO11	80204	broad.mit.edu	37	chr2	48063100	48063100	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaggttcaggatgcatcaTagggcgagtatattcaaata	10	7	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:48063100T>C	uc010fbl.2	-	5	490	c.376A>G	c.(376-378)ATG>GTG	p.M126V	FBXO11_uc002rwe.2_Missense_Mutation_p.M126V|FBXO11_uc002rwf.2_Missense_Mutation_p.M126V|FBXO11_uc002rwg.1_Missense_Mutation_p.M126V	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	210					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGATGCATCATAGGGCGAGTA	0.333													C	48063100	T	C	48063100	3	2	27	1	0	0	0	0	1	0	0	0	5727	1406	49	3	2321	3	FBXO11	2	48063100	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	13733	48063100	195136273	962	24913											
FBXO11	80204	broad.mit.edu	37	chr2	48066614	48066614	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttttgcacgatgaccaaagTtttctgtagttgaagttgag	11	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:48066614T>C	uc010fbl.2	-	3	248	c.134A>G	c.(133-135)AAC>AGC	p.N45S	FBXO11_uc002rwe.2_Missense_Mutation_p.N45S|FBXO11_uc002rwf.2_Missense_Mutation_p.N45S|FBXO11_uc002rwg.1_Missense_Mutation_p.N45S	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	129					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATGACCAAAGTTTTCTGTAGT	0.338													C	48066614	T	C	48066614	3	2	27	1	0	0	0	0	1	0	0	0	5727	1725	60	3	2571	3	FBXO11	2	48066614	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3514	48066614	195132759	963	24914											
FOXN2	3344	broad.mit.edu	37	chr2	48573667	48573667	+	Frame_Shift_Del	DEL	A	A	-													agcttgctaccagaacccagAaaaaaaatcagcgacttcaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:48573666_48573666GA>G	uc002rwh.1	+	2	628	c.313_313GA>G	c.(313-315)gaafs	p.E105fs		NM_002158	NP_002149	P32314	FOXN2_HUMAN	Homo sapiens forkhead box N2 (FOXN2), mRNA.	105					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CCAGAACCCAGAAAAAAAATC	0.433													-	48573667	A	-	48573667	7	5	27	1	0	1	0	1	0	0	0	0	6020	246	9	0	316	0	FOXN2	2	48573667	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	507053	48573667	194625706	964	24915											
KLRAQ1	129285	broad.mit.edu	37	chr2	48681829	48681829	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgccaagagggtagaActacttcaagatgaactagc	10	9	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:48681829A>T	uc002rwm.2	+	3	407	c.222A>T	c.(220-222)GAA>GAT	p.E74D	KLRAQ1_uc002rwi.1_Missense_Mutation_p.E74D|KLRAQ1_uc002rwj.2_Missense_Mutation_p.E74D|KLRAQ1_uc002rwl.2_Missense_Mutation_p.E28D|KLRAQ1_uc002rwk.2_Missense_Mutation_p.E74D|KLRAQ1_uc010yok.1_Missense_Mutation_p.E74D	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	74	Potential.									ovary(1)	1						AGAGGGTAGAACTACTTCAAG	0.403													T	48681829	A	T	48681829	3	4	27	1	0	0	0	0	1	0	0	0	8413	40	2	5	232	5	KLRAQ1	2	48681829	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	108162	48681829	194517544	965	24916											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48808804	48808804	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcagtgtagcaggaaaaatCcacactgtgaagattgaaca	9	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:48808804C>T	uc010yol.1	+	1	1079	c.1032C>T	c.(1030-1032)ATC>ATT	p.I344I	STON1_uc002rwo.3_Silent_p.I344I|STON1_uc010fbm.2_Silent_p.I344I|STON1-GTF2A1L_uc002rwp.1_Silent_p.I344I|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Silent_p.I344I	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	344					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAGGAAAAATCCACACTGTGA	0.378													T	48808804	C	T	48808804	2	4	27	1	0	0	0	0	0	0	0	1	15316	845	30	4		4	STON1-GTF2A1L	2	48808804	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	126975	48808804	194390569	966	24917											
NRXN1	9378	broad.mit.edu	37	chr2	50850688	50850688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcactgctgctttgaatggGgttttgagacaagtcgtagc	12	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:50850688G>A	uc010fbq.2	-	6	2474	c.997C>T	c.(997-999)CCC>TCC	p.P333S	NRXN1_uc002rxb.3_5'UTR|NRXN1_uc002rxe.3_Missense_Mutation_p.P300S|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTTTGAATGGGGTTTTGAGAC	0.383													A	50850688	G	A	50850688	3	1	27	1	0	0	0	0	1	0	0	0	10665	1232	43	4	3981	4	NRXN1	2	50850688	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2041884	50850688	192348685	967	24918											
NRXN1	9378	broad.mit.edu	37	chr2	51255150	51255150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaagctgagctgcaggcGgccgccgcgcgtcagaatca	16	12	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:51255150G>A	uc010fbq.2	-	2	1739	c.262C>T	c.(262-264)CGC>TGC	p.R88C	NRXN1_uc002rxe.3_Missense_Mutation_p.R88C|NRXN1_uc002rxd.1_Missense_Mutation_p.R88C	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGCTGCAGGCGGCCGCCGCGC	0.677													A	51255150	G	A	51255150	3	1	27	1	0	0	0	0	1	0	0	0	10665	1116	39	1	4736	1	NRXN1	2	51255150	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	404462	51255150	191944223	968	24919											
ASB3	51130	broad.mit.edu	37	chr2	53956630	53956630	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaaggagttccatccacAcatagaatgggatccattaa	9	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:53956630A>G	uc002rxg.1	-	4	568	c.433T>C	c.(433-435)TGT>CGT	p.C145R	ASB3_uc002rxh.1_Missense_Mutation_p.C72R|ASB3_uc002rxi.3_Missense_Mutation_p.C183R|ASB3_uc010yoo.1_Intron	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	ankyrin repeat and SOCS box-containing protein 3	145	ANK 5.				intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTCCATCCACACATAGAATGG	0.373													G	53956630	A	G	53956630	3	3	27	1	0	0	0	0	1	0	0	0	1024	159	6	3	1151	3	ASB3	2	53956630	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2701480	53956630	189242743	969	24920											
ERLEC1	27248	broad.mit.edu	37	chr2	54028595	54028595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtgggaatgggaaatgGtacaccttgtagtttgaaac	12	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:54028595G>A	uc002rxl.2	+	7	867	c.587G>A	c.(586-588)GGT>GAT	p.G196D	ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Missense_Mutation_p.G196D|ERLEC1_uc002rxn.2_Missense_Mutation_p.G196D	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	erlectin isoform 1	196					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			ovary(2)	2						ATGGGAAATGGTACACCTTGT	0.373													A	54028595	G	A	54028595	3	1	27	1	0	0	0	0	1	0	0	0	5231	1261	44	4	613	4	ERLEC1	2	54028595	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	71965	54028595	189170778	970	24921											
GPR75	10936	broad.mit.edu	37	chr2	54080358	54080358	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgataatgcatggcaatAtatgaattggcaaatccaaa	9	5	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:54080358A>G	uc002rxo.3	-	2	1807	c.1536T>C	c.(1534-1536)TAT>TAC	p.Y512Y	ASB3_uc002rxi.3_Intron	NM_006794	NP_006785	O95800	GPR75_HUMAN	G protein-coupled receptor 75	512	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|skin(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCATGGCAATATATGAATTGG	0.448													G	54080358	A	G	54080358	2	3	27	1	0	0	0	0	0	0	0	1	6708	456	16	3		3	GPR75	2	54080358	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	51763	54080358	189119015	971	24922											
PSME4	23198	broad.mit.edu	37	chr2	54117289	54117289	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcattataagtttctacggtAatattggacagtgctgttct	8	6	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:54117289A>T	uc002rxp.2	-	37	4304	c.4248T>A	c.(4246-4248)ATT>ATA	p.I1416I	PSME4_uc010yop.1_Silent_p.I1302I|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.I791I|PSME4_uc010fbv.1_Silent_p.I560I|PSME4_uc010fbt.1_5'Flank	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1416					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTTCTACGGTAATATTGGACA	0.393													T	54117289	A	T	54117289	2	4	27	1	0	0	0	0	0	0	0	1	12709	358	13	5		5	PSME4	2	54117289	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	36931	54117289	189082084	972	24923											
PSME4	23198	broad.mit.edu	37	chr2	54163234	54163234	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttaattacctttggtacaTatggatcccaatctatgtac	6	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:54163234T>A	uc002rxp.2	-	7	880	c.824A>T	c.(823-825)TAT>TTT	p.Y275F	PSME4_uc010yop.1_Missense_Mutation_p.Y161F|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	275					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CTTTGGTACATATGGATCCCA	0.209													A	54163234	T	A	54163234	3	1	27	1	0	0	0	0	1	0	0	0	12709	1406	49	5	4867	5	PSME4	2	54163234	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	45945	54163234	189036139	973	24924											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	27	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-BR-6452-01A-12D-1800-08	3906	54167140	189032233	974	24925											
TSPYL6	388951	broad.mit.edu	37	chr2	54482364	54482364	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacctcatacacctttacaaTcagcttgtttctgaagtaag	6	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:54482364T>A	uc002rxr.2	-	1	1046	c.925A>T	c.(925-927)ATT>TTT	p.I309F	ACYP2_uc002rxq.3_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	TSPY-like 6	309					nucleosome assembly	nucleus					0						ACCTTTACAATCAGCTTGTTT	0.463													A	54482364	T	A	54482364	3	1	27	1	0	0	0	0	1	0	0	0	16660	1435	50	5	311	5	TSPYL6	2	54482364	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	315224	54482364	188717009	975	24926											
TSPYL6	388951	broad.mit.edu	37	chr2	54482753	54482753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtttacctcatctattGctctgttttcttccgccacg	5	15	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:54482753G>A	uc002rxr.2	-	1	657	c.536C>T	c.(535-537)GCA>GTA	p.A179V	ACYP2_uc002rxq.3_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	TSPY-like 6	179					nucleosome assembly	nucleus					0						CTCATCTATTGCTCTGTTTTC	0.612													A	54482753	G	A	54482753	3	1	27	1	0	0	0	0	1	0	0	0	16660	1319	46	2	700	2	TSPYL6	2	54482753	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	389	54482753	188716620	976	24927											
CCDC88A	55704	broad.mit.edu	37	chr2	55561385	55561385	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttttccaaatttccaatctTcacattattttcttctaatg	1	9	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:55561385T>A	uc002ryv.2	-	15	3414	c.2572A>T	c.(2572-2574)AAG>TAG	p.K858*	CCDC88A_uc010yoz.1_Nonsense_Mutation_p.K858*|CCDC88A_uc010ypa.1_Nonsense_Mutation_p.K858*|CCDC88A_uc010ypb.1_Nonsense_Mutation_p.K760*|CCDC88A_uc002ryu.2_Nonsense_Mutation_p.K141*|CCDC88A_uc002ryw.2_Nonsense_Mutation_p.K141*	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	858	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						TTTCCAATCTTCACATTATTT	0.303													A	55561385	T	A	55561385	4	1	27	1	0	0	0	0	0	1	0	0	2863	1792	62	5	3115	5	CCDC88A	2	55561385	Nonsense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1078632	55561385	187637988	977	24928											
CCDC104	112942	broad.mit.edu	37	chr2	55756032	55756032	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccattttgcaacctgtgTtggcagcagaagattttact	10	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:55756032T>C	uc002ryy.2	+	4	499	c.301T>C	c.(301-303)TTG>CTG	p.L101L	CCDC104_uc002ryx.2_Silent_p.L126L	NM_080667	NP_542398	Q96G28	CC104_HUMAN	coiled-coil domain containing 104	101										ovary(1)	1			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCAACCTGTGTTGGCAGCAGA	0.358													C	55756032	T	C	55756032	2	2	27	1	0	0	0	0	0	0	0	1	2739	1722	60	3		3	CCDC104	2	55756032	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	194647	55756032	187443341	978	24929											
PNPT1	87178	broad.mit.edu	37	chr2	55863427	55863427	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctcccattacaatactacttCtgtcattcaaagttctgacc	3	13	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:55863427C>G	uc002rzf.2	-	28	2350	c.2297G>C	c.(2296-2298)AGA>ACA	p.R766T	PNPT1_uc002rzg.2_RNA	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	766					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)			AATACTACTTCTGTCATTCAA	0.388													G	55863427	C	G	55863427	3	3	27	1	0	0	0	0	1	0	0	0	12173	913	32	5	58	5	PNPT1	2	55863427	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	107395	55863427	187335946	979	24930											
EFEMP1	2202	broad.mit.edu	37	chr2	56108868	56108868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagtgcactcgtctatGtctgtcagagacatgcaaca	9	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:56108868G>A	uc002rzh.2	-	5	849	c.519C>T	c.(517-519)GAC>GAT	p.D173D	EFEMP1_uc002rzi.2_Silent_p.D173D|EFEMP1_uc002rzj.2_Silent_p.D173D|EFEMP1_uc010ypc.1_Silent_p.D115D	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	173	EGF-like 2; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACTCGTCTATGTCTGTCAGAG	0.423													A	56108868	G	A	56108868	2	1	27	1	0	0	0	0	0	0	0	1	4941	1391	48	4		4	EFEMP1	2	56108868	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	245441	56108868	187090505	980	24931											
EFEMP1	2202	broad.mit.edu	37	chr2	56144864	56144864	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatacggtgggaagggttGgagggaatgcgctgagggtc	21	4	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:56144864G>A	uc002rzh.2	-	4	783	c.453C>T	c.(451-453)TCC>TCT	p.S151S	EFEMP1_uc002rzi.2_Silent_p.S151S|EFEMP1_uc002rzj.2_Silent_p.S151S|EFEMP1_uc010ypc.1_Silent_p.S93S	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	151					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGGAAGGGTTGGAGGGAATGC	0.527													A	56144864	G	A	56144864	2	1	27	1	0	0	0	0	0	0	0	1	4941	1335	47	4		4	EFEMP1	2	56144864	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	35996	56144864	187054509	981	24932											
FANCL	55120	broad.mit.edu	37	chr2	58386904	58386904	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgttgtattcttatttcagTgtttccttccagacattttt	5	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:58386904T>C	uc002rzw.3	-	14	1191	c.1124A>G	c.(1123-1125)CAC>CGC	p.H375R	VRK2_uc002rzo.2_3'UTR|VRK2_uc010fcb.2_3'UTR|VRK2_uc002rzs.2_3'UTR|VRK2_uc002rzr.2_3'UTR|VRK2_uc010fcc.2_3'UTR|VRK2_uc002rzv.2_3'UTR|VRK2_uc010fcd.2_3'UTR|VRK2_uc002rzp.2_3'UTR|VRK2_uc010ypg.1_3'UTR|VRK2_uc002rzq.2_3'UTR|VRK2_uc002rzu.2_3'UTR|VRK2_uc002rzt.2_3'UTR|FANCL_uc002rzx.3_Missense_Mutation_p.H380R|FANCL_uc010fce.2_Missense_Mutation_p.H347R	NM_018062	NP_060532	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L isoform	375					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						CTTATTTCAGTGTTTCCTTCC	0.279								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				C	58386904	T	C	58386904	3	2	27	1	0	0	0	0	1	0	0	0	5670	1696	59	3	7	3	FANCL	2	58386904	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2242040	58386904	184812469	982	24933											
FANCL	55120	broad.mit.edu	37	chr2	58392975	58392975	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctttagtgattctattgctGccaaaaactgactataaatg	6	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:58392975G>C	uc002rzw.3	-	8	642	c.575C>G	c.(574-576)GCA>GGA	p.A192G	FANCL_uc002rzx.3_Missense_Mutation_p.A197G|FANCL_uc010fce.2_Missense_Mutation_p.A192G|FANCL_uc010fcf.1_Missense_Mutation_p.A133G	NM_018062	NP_060532	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L isoform	192					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TTCTATTGCTGCCAAAAACTG	0.373								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				C	58392975	G	C	58392975	3	2	27	1	0	0	0	0	1	0	0	0	5670	1319	46	5	580	5	FANCL	2	58392975	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	6071	58392975	184806398	983	24934											
BCL11A	53335	broad.mit.edu	37	chr2	60688080	60688080	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccggcgagccactgcgagTacacgttctccgtgttgggc	14	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:60688080T>C	uc002sae.1	-	4	2195	c.1967A>G	c.(1966-1968)TAC>TGC	p.Y656C	BCL11A_uc002sab.2_Missense_Mutation_p.Y656C|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.Y325C|BCL11A_uc010ypj.1_Missense_Mutation_p.Y622C|BCL11A_uc002sad.1_Missense_Mutation_p.Y504C|BCL11A_uc002saf.1_Missense_Mutation_p.Y622C	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	656					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCACTGCGAGTACACGTTCTC	0.632			T	IGH@	B-CLL								C	60688080	T	C	60688080	3	2	27	1	0	0	0	0	1	0	0	0	1363	1638	57	3	650	3	BCL11A	2	60688080	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2295105	60688080	182511293	984	24935											
REL	5966	broad.mit.edu	37	chr2	61145339	61145339	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatttaggtgctccaaatacTgcagaattaaggatttgtcg	9	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:61145339T>C	uc002sam.1	+	6	773	c.549T>C	c.(547-549)ACT>ACC	p.T183T	REL_uc002san.1_Silent_p.T183T	NM_002908	NP_002899	Q04864	REL_HUMAN	v-rel reticuloendotheliosis viral oncogene	183	RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			CTCCAAATACTGCAGAATTAA	0.313			A		Hodgkin Lymphoma								C	61145339	T	C	61145339	2	2	27	1	0	0	0	0	0	0	0	1	13215	1567	55	3		3	REL	2	61145339	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	457259	61145339	182054034	985	24936											
PUS10	150962	broad.mit.edu	37	chr2	61180224	61180224	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtcttttcttcttcacCttctttcatatgtcctattg	3	11	6	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:61180224C>A	uc010fci.2	-	15	1276	c.1216G>T	c.(1216-1218)GGT>TGT	p.G406C	PUS10_uc002sao.2_Missense_Mutation_p.G406C|PUS10_uc010ypk.1_Missense_Mutation_p.G183C	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	406					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			ovary(2)|large_intestine(1)|kidney(1)	4			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TCTTCTTCACCTTCTTTCATA	0.318													A	61180224	C	A	61180224	3	1	27	1	0	0	0	0	1	0	0	0	12831	681	24	5	389	5	PUS10	2	61180224	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	34885	61180224	182019149	986	24937											
USP34	9736	broad.mit.edu	37	chr2	61475803	61475803	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactcaaaatgcgaggcaaTttcttaaaacatgccctgag	7	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:61475803T>C	uc002sbe.2	-	49	6259	c.6237A>G	c.(6235-6237)AAA>AAG	p.K2079K	USP34_uc002sbf.2_Silent_p.K229K	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2079					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			TGCGAGGCAATTTCTTAAAAC	0.303													C	61475803	T	C	61475803	2	2	27	1	0	0	0	0	0	0	0	1	17062	1490	52	3		3	USP34	2	61475803	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	295579	61475803	181723570	987	24938											
USP34	9736	broad.mit.edu	37	chr2	61577527	61577527	+	Splice_Site	DEL	A	A	-													ggatgccaagtacagtgtctAaaaaaaagagggagagattt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:61577526_61577526TA>T	uc002sbe.3	-	12	1400	c.1378_splice	c.e12-1	p.T460_splice		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	460					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTACAGTGTCTAAAAAAAAGA	0.338													-	61577527	A	-	61577527	8	5	27	1	0	1	0	1	0	0	1	0	17062	377	13	0		0	USP34	2	61577527	Splice_Site	DEL	A	TCGA-BR-6452-01A-12D-1800-08	101724	61577527	181621846	988	24939											
USP34	9736	broad.mit.edu	37	chr2	61607407	61607407	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaagcataatgttgtatccAatggttctttgactgtgctc	8	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:61607407A>T	uc002sbe.2	-	7	933	c.911T>A	c.(910-912)TTG>TAG	p.L304*		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	304					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			TGTTGTATCCAATGGTTCTTT	0.398													T	61607407	A	T	61607407	4	4	27	1	0	0	0	0	0	1	0	0	17062	131	5	5	10025	5	USP34	2	61607407	Nonsense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	29880	61607407	181591966	989	24940											
XPO1	7514	broad.mit.edu	37	chr2	61706036	61706036	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtttatgtttctcttcatcAgcctgccgtagggctatttc	8	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:61706036A>G	uc002sbj.2	-	25	3863	c.3135T>C	c.(3133-3135)GCT>GCC	p.A1045A	XPO1_uc010fcl.2_Silent_p.A1041A|XPO1_uc010ypn.1_Silent_p.A1041A|XPO1_uc002sbk.2_Silent_p.A606A|XPO1_uc002sbg.2_Silent_p.A242A|XPO1_uc002sbh.2_Silent_p.A692A	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	1045					intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TCTCTTCATCAGCCTGCCGTA	0.383													G	61706036	A	G	61706036	2	3	27	1	0	0	0	0	0	0	0	1	17442	175	7	3		3	XPO1	2	61706036	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	98629	61706036	181493337	990	24941											
XPO1	7514	broad.mit.edu	37	chr2	61719260	61719260	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctccaacctgaacctgaacGaaatgcctgcggcatttttg	8	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:61719260G>A	uc002sbj.2	-	16	2525	c.1797C>T	c.(1795-1797)TTC>TTT	p.F599F	XPO1_uc010fcl.2_Silent_p.F595F|XPO1_uc010ypn.1_Silent_p.F595F|XPO1_uc002sbk.2_Silent_p.F160F|XPO1_uc002sbh.2_Silent_p.F246F	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	599	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			GAACCTGAACGAAATGCCTGC	0.358													A	61719260	G	A	61719260	2	1	27	1	0	0	0	0	0	0	0	1	17442	1049	37	1		1	XPO1	2	61719260	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	13224	61719260	181480113	991	24942											
XPO1	7514	broad.mit.edu	37	chr2	61719733	61719733	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taacaagaaatcgtttttcgTcctcttcatgcattgctcca	5	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:61719733T>C	uc002sbj.2	-	14	2263	c.1535A>G	c.(1534-1536)GAC>GGC	p.D512G	XPO1_uc010fcl.2_Missense_Mutation_p.D508G|XPO1_uc010ypn.1_Missense_Mutation_p.D508G|XPO1_uc002sbk.2_Missense_Mutation_p.D73G|XPO1_uc002sbh.2_Missense_Mutation_p.D159G	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	512	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TCGTTTTTCGTCCTCTTCATG	0.333													C	61719733	T	C	61719733	3	2	27	1	0	0	0	0	1	0	0	0	17442	1667	58	3	1728	3	XPO1	2	61719733	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	473	61719733	181479640	992	24943											
XPO1	7514	broad.mit.edu	37	chr2	61722717	61722717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcttttccatttgagtacGcaagtcgaatattggtattt	7	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:61722717G>A	uc002sbj.2	-	11	1648	c.920C>T	c.(919-921)GCG>GTG	p.A307V	XPO1_uc010fcl.2_Missense_Mutation_p.A303V|XPO1_uc010ypn.1_Missense_Mutation_p.A303V|XPO1_uc002sbk.2_5'UTR|XPO1_uc002sbh.2_5'Flank	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	307	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			ATTTGAGTACGCAAGTCGAAT	0.303													A	61722717	G	A	61722717	3	1	27	1	0	0	0	0	1	0	0	0	17442	1087	38	1	2355	1	XPO1	2	61722717	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2984	61722717	181476656	993	24944											
OTX1	5013	broad.mit.edu	37	chr2	63280175	63280175	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcatgaacgggctgggccTggccgggcccgccatggacc	17	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:63280175T>G	uc002scd.2	+	3	298	c.50T>G	c.(49-51)CTG>CGG	p.L17R	OTX1_uc010ypt.1_5'UTR	NM_014562	NP_055377	P32242	OTX1_HUMAN	orthodenticle homeobox 1	17						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(2)	2	Lung NSC(7;0.121)|all_lung(7;0.211)					GGGCTGGGCCTGGCCGGGCCC	0.677													G	63280175	T	G	63280175	3	3	27	1	0	0	0	0	1	0	0	0	11320	1580	55	5	52	5	OTX1	2	63280175	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1557458	63280175	179919198	994	24945											
C2orf86	51057	broad.mit.edu	37	chr2	63605566	63605566	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatatttgctgatttgaTctctatattccaatatagtg	6	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:63605566T>A	uc002sch.2	-	12	2149	c.1703A>T	c.(1702-1704)GAT>GTT	p.D568V	C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.D409V|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.D376V|C2orf86_uc002sci.1_Missense_Mutation_p.D544V	NM_015910	NP_056994	O95876	FRITZ_HUMAN	hypothetical protein LOC51057 isoform 2	568					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane					0						GCTGATTTGATCTCTATATTC	0.398													A	63605566	T	A	63605566	3	1	27	1	0	0	0	0	1	0	0	0	2201	1435	50	5	565	5	C2orf86	2	63605566	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	325391	63605566	179593807	995	24946											
C2orf86	51057	broad.mit.edu	37	chr2	63712103	63712103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcgtctgtttttgagcGtccaaggataatctcgtgct	12	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:63712103G>A	uc002sch.2	-	5	718	c.272C>T	c.(271-273)ACG>ATG	p.T91M	C2orf86_uc002sci.1_Missense_Mutation_p.T67M|C2orf86_uc010fcr.1_5'Flank	NM_015910	NP_056994	O95876	FRITZ_HUMAN	hypothetical protein LOC51057 isoform 2	91					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane					0						GTTTTTGAGCGTCCAAGGATA	0.373													A	63712103	G	A	63712103	3	1	27	1	0	0	0	0	1	0	0	0	2201	1145	40	1	2050	1	C2orf86	2	63712103	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	106537	63712103	179487270	996	24947											
UGP2	7360	broad.mit.edu	37	chr2	64114742	64114742	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagcgggaatttcctacAgtgcccttggttaaattagg	11	7	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:64114742A>G	uc002scm.2	+	8	1584	c.1278A>G	c.(1276-1278)ACA>ACG	p.T426T	UGP2_uc002scl.2_Silent_p.T415T|UGP2_uc010ypx.1_Silent_p.T435T	NM_006759	NP_006750	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2 isoform a	426					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity				0						AATTTCCTACAGTGCCCTTGG	0.358													G	64114742	A	G	64114742	2	3	27	1	0	0	0	0	0	0	0	1	16940	175	7	3		3	UGP2	2	64114742	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	402639	64114742	179084631	997	24948											
AFTPH	54812	broad.mit.edu	37	chr2	64778626	64778626	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaatggagccagacatcatTcgaatgtactcttcatcccc	6	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:64778626T>G	uc002sdc.2	+	1	50	c.18T>G	c.(16-18)ATT>ATG	p.I6M	AFTPH_uc002scz.2_Missense_Mutation_p.I6M|AFTPH_uc002sda.2_Missense_Mutation_p.I6M|AFTPH_uc002sdb.2_Missense_Mutation_p.I6M	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	6					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						CAGACATCATTCGAATGTACT	0.373													G	64778626	T	G	64778626	3	3	27	1	0	0	0	0	1	0	0	0	364	1771	62	5	20	5	AFTPH	2	64778626	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	663884	64778626	178420747	998	24949											
AFTPH	54812	broad.mit.edu	37	chr2	64780188	64780188	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcactgaacctgttgcaaAacttaaaaatgggcaagaag	10	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:64780188A>G	uc002sdc.2	+	1	1612	c.1580A>G	c.(1579-1581)AAA>AGA	p.K527R	AFTPH_uc002scz.2_Missense_Mutation_p.K527R|AFTPH_uc002sda.2_Missense_Mutation_p.K527R|AFTPH_uc002sdb.2_Missense_Mutation_p.K527R	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	527					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						CCTGTTGCAAAACTTAAAAAT	0.363													G	64780188	A	G	64780188	3	3	27	1	0	0	0	0	1	0	0	0	364	14	1	3	1582	3	AFTPH	2	64780188	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1562	64780188	178419185	999	24950											
AFTPH	54812	broad.mit.edu	37	chr2	64796799	64796799	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctgttatagtgcccatgTatgcagcaggattggtaagt	12	7	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:64796799T>C	uc002sdc.2	+	4	2289	c.2257T>C	c.(2257-2259)TAT>CAT	p.Y753H	AFTPH_uc002scz.2_Missense_Mutation_p.Y753H|AFTPH_uc002sda.2_Missense_Mutation_p.Y753H|AFTPH_uc002sdb.2_Missense_Mutation_p.Y753H	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	753					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						AGTGCCCATGTATGCAGCAGG	0.348													C	64796799	T	C	64796799	3	2	27	1	0	0	0	0	1	0	0	0	364	1638	57	3	2271	3	AFTPH	2	64796799	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	16611	64796799	178402574	1000	24951											
ETAA1	54465	broad.mit.edu	37	chr2	67630573	67630573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagataatgctacaaaaaaGccaatcaaaggaaacaccaa	5	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:67630573G>A	uc002sdz.1	+	5	898	c.759G>A	c.(757-759)AAG>AAA	p.K253K		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	ETAA16 protein	253						cytoplasm|nucleus				ovary(3)|large_intestine(1)	4						CTACAAAAAAGCCAATCAAAG	0.313													A	67630573	G	A	67630573	2	1	27	1	0	0	0	0	0	0	0	1	5267	962	34	2		2	ETAA1	2	67630573	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2833774	67630573	175568800	1001	24952											
PNO1	56902	broad.mit.edu	37	chr2	68385539	68385539	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aagaagaaacaaggaaaattCcagtcccagctaacagatac	7	9	0	3	rs150153986	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:68385539C>G	uc002seh.2	+	2	297	c.235C>G	c.(235-237)CCA>GCA	p.P79A	WDR92_uc002sed.1_5'Flank|WDR92_uc002see.1_5'Flank|WDR92_uc002sef.1_5'Flank|WDR92_uc002seg.1_5'Flank	NM_020143	NP_064528	Q9NRX1	PNO1_HUMAN	partner of NOB1	79						nucleolus	RNA binding				0						AAGGAAAATTCCAGTCCCAGC	0.388													G	68385539	C	G	68385539	3	3	27	1	0	0	0	0	1	0	0	0	12161	855	30	5	241	5	PNO1	2	68385539	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	754966	68385539	174813834	1002	24953											
ARHGAP25	9938	broad.mit.edu	37	chr2	69009410	69009410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatcaaggagatcgccacaAacccagaagaagctgggaag	11	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:69009410A>G	uc002seu.2	+	3	671	c.307A>G	c.(307-309)AAC>GAC	p.N103D	ARHGAP25_uc010yqk.1_Missense_Mutation_p.N77D|ARHGAP25_uc010fdg.2_Missense_Mutation_p.N103D|ARHGAP25_uc010yql.1_Missense_Mutation_p.N103D|ARHGAP25_uc002sev.2_Missense_Mutation_p.N96D|ARHGAP25_uc002sew.2_Missense_Mutation_p.N96D|ARHGAP25_uc002sex.2_Missense_Mutation_p.N96D|ARHGAP25_uc010fdh.1_RNA	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	103	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						GATCGCCACAAACCCAGAAGA	0.418													G	69009410	A	G	69009410	3	3	27	1	0	0	0	0	1	0	0	0	874	14	1	3	357	3	ARHGAP25	2	69009410	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	623871	69009410	174189963	1003	24954											
ARHGAP25	9938	broad.mit.edu	37	chr2	69049650	69049650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttttcagggtgccaacaGcagcaaaatggagatcttta	10	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:69049650G>A	uc002seu.2	+	10	1740	c.1376G>A	c.(1375-1377)AGC>AAC	p.S459N	ARHGAP25_uc010fdg.2_Missense_Mutation_p.S460N|ARHGAP25_uc010yql.1_Missense_Mutation_p.S420N|ARHGAP25_uc002sew.2_Missense_Mutation_p.S452N|ARHGAP25_uc002sex.2_Missense_Mutation_p.S453N|ARHGAP25_uc002sey.2_Missense_Mutation_p.S186N	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	459					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						GGTGCCAACAGCAGCAAAATG	0.473													A	69049650	G	A	69049650	3	1	27	1	0	0	0	0	1	0	0	0	874	971	34	2	1457	2	ARHGAP25	2	69049650	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	40240	69049650	174149723	1004	24955											
BMP10	27302	broad.mit.edu	37	chr2	69093283	69093283	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcagaaaacacgatgagcAaagggttatgcttattctgg	10	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:69093283A>G	uc002sez.1	-	2	914	c.755T>C	c.(754-756)TTG>TCG	p.L252S		NM_014482	NP_055297	O95393	BMP10_HUMAN	bone morphogenetic protein 10 preproprotein	252					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			ovary(2)	2						CACGATGAGCAAAGGGTTATG	0.478													G	69093283	A	G	69093283	3	3	27	1	0	0	0	0	1	0	0	0	1457	131	5	3	523	3	BMP10	2	69093283	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	43633	69093283	174106090	1005	24956											
BMP10	27302	broad.mit.edu	37	chr2	69093458	69093458	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctcccactcactgttggTtccatatatctccccagaca	5	15	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:69093458T>C	uc002sez.1	-	2	739	c.580A>G	c.(580-582)ACC>GCC	p.T194A		NM_014482	NP_055297	O95393	BMP10_HUMAN	bone morphogenetic protein 10 preproprotein	194					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			ovary(2)	2						TCACTGTTGGTTCCATATATC	0.478													C	69093458	T	C	69093458	3	2	27	1	0	0	0	0	1	0	0	0	1457	1725	60	3	698	3	BMP10	2	69093458	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	175	69093458	174105915	1006	24957											
BMP10	27302	broad.mit.edu	37	chr2	69093671	69093671	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaggagggggtattttcggaGcccattaaaactgaccggct	14	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:69093671G>C	uc002sez.1	-	2	526	c.367C>G	c.(367-369)CTC>GTC	p.L123V		NM_014482	NP_055297	O95393	BMP10_HUMAN	bone morphogenetic protein 10 preproprotein	123					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			ovary(2)	2						TATTTTCGGAGCCCATTAAAA	0.433													C	69093671	G	C	69093671	3	2	27	1	0	0	0	0	1	0	0	0	1457	971	34	5	911	5	BMP10	2	69093671	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	213	69093671	174105702	1007	24958											
ANTXR1	84168	broad.mit.edu	37	chr2	69300209	69300209	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatggagaactccatgaagaTctctttttctattcagagag	9	7	3	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:69300209T>A	uc002sfg.2	+	6	824	c.468T>A	c.(466-468)GAT>GAA	p.D156E	ANTXR1_uc002sfe.2_Missense_Mutation_p.D156E|ANTXR1_uc002sff.2_Missense_Mutation_p.D156E|ANTXR1_uc002sfd.2_Missense_Mutation_p.D156E	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	156	Extracellular (Potential).|Interaction with PA.|VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4						TCCATGAAGATCTCTTTTTCT	0.488									Familial_Infantile_Hemangioma				A	69300209	T	A	69300209	3	1	27	1	0	0	0	0	1	0	0	0	711	1432	50	5	490	5	ANTXR1	2	69300209	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	206538	69300209	173899164	1008	24959											
ANTXR1	84168	broad.mit.edu	37	chr2	69379379	69379379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctctggtggttctggCccctctgctgcactgtggta	11	14	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:69379379C>T	uc002sfg.2	+	13	1386	c.1030C>T	c.(1030-1032)CCC>TCC	p.P344S	ANTXR1_uc002sff.2_Missense_Mutation_p.P344S	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	344	Cytoplasmic (Potential).				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4						GTGGTTCTGGCCCCTCTGCTG	0.562									Familial_Infantile_Hemangioma				T	69379379	C	T	69379379	3	4	27	1	0	0	0	0	1	0	0	0	711	739	26	2	1135	2	ANTXR1	2	69379379	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	79170	69379379	173819994	1009	24960											
AAK1	22848	broad.mit.edu	37	chr2	69708009	69708009	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacctgtgcgattcgaggtcAcagattccgtctgagatggg	14	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:69708009A>G	uc002sfp.2	-	19	3057	c.2552T>C	c.(2551-2553)GTG>GCG	p.V851A		NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	851						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0						ATTCGAGGTCACAGATTCCGT	0.552													G	69708009	A	G	69708009	3	3	27	1	0	0	0	0	1	0	0	0	16	159	6	3	349	3	AAK1	2	69708009	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	328630	69708009	173491364	1010	24961											
C2orf42	54980	broad.mit.edu	37	chr2	70408456	70408456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgacaggagcagaagaagCggcgctcaggcaagcttttg	14	9	2	3	rs139242568		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:70408456C>T	uc002sgh.2	-	3	990	c.662G>A	c.(661-663)CGC>CAC	p.R221H		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	221											0						GCAGAAGAAGCGGCGCTCAGG	0.483													T	70408456	C	T	70408456	3	4	27	1	0	0	0	0	1	0	0	0	2166	768	27	1	1094	1	C2orf42	2	70408456	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	700447	70408456	172790917	1011	24962											
C2orf42	54980	broad.mit.edu	37	chr2	70408477	70408477	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctcaggcaagcttttgCcactgactttctgcacaaaa	9	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:70408477C>A	uc002sgh.2	-	3	969	c.641G>T	c.(640-642)GGC>GTC	p.G214V		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	214											0						CAAGCTTTTGCCACTGACTTT	0.468													A	70408477	C	A	70408477	3	1	27	1	0	0	0	0	1	0	0	0	2166	739	26	5	1115	5	C2orf42	2	70408477	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	21	70408477	172790896	1012	24963											
ADD2	119	broad.mit.edu	37	chr2	70890850	70890850	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtggcggctttgcttgtttCtgtcttcttagtaccttcta	10	9	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:70890850C>T	uc002sgz.2	-	16	2353	c.1888G>A	c.(1888-1890)GAA>AAA	p.E630K	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_3'UTR|ADD2_uc002sha.2_Missense_Mutation_p.E324K|ADD2_uc002sgx.2_3'UTR	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	630					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						TTGCTTGTTTCTGTCTTCTTA	0.507													T	70890850	C	T	70890850	3	4	27	1	0	0	0	0	1	0	0	0	305	922	32	4	296	4	ADD2	2	70890850	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	482373	70890850	172308523	1013	24964											
CLEC4F	165530	broad.mit.edu	37	chr2	71036894	71036894	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgttctgggcggcgttgaaTggtgtcccatctgtccagcg	14	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:71036894T>C	uc002shf.2	-	6	1712	c.1635A>G	c.(1633-1635)CCA>CCG	p.P545P	CLEC4F_uc010yqv.1_Silent_p.P545P	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	C-type lectin, superfamily member 13	545	Extracellular (Potential).|C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(5)	5						CGGCGTTGAATGGTGTCCCAT	0.562													C	71036894	T	C	71036894	2	2	27	1	0	0	0	0	0	0	0	1	3516	1451	51	3		3	CLEC4F	2	71036894	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	146044	71036894	172162479	1014	24965											
ZNF638	27332	broad.mit.edu	37	chr2	71625868	71625868	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaatctgtggtaacggtAgctgttaaaggtaataaagc	11	4	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:71625868A>G	uc002shx.2	+	12	2785	c.2466A>G	c.(2464-2466)GTA>GTG	p.V822V	ZNF638_uc010yqw.1_Silent_p.V401V|ZNF638_uc002shy.2_Silent_p.V822V|ZNF638_uc002shz.2_Silent_p.V822V|ZNF638_uc002sia.2_Silent_p.V822V|ZNF638_uc002sib.1_Silent_p.V822V|ZNF638_uc010fed.2_RNA|ZNF638_uc002sic.2_5'UTR	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	822					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						TGGTAACGGTAGCTGTTAAAG	0.308													G	71625868	A	G	71625868	2	3	27	1	0	0	0	0	0	0	0	1	18052	407	15	3		3	ZNF638	2	71625868	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	588974	71625868	171573505	1015	24966											
ZNF638	27332	broad.mit.edu	37	chr2	71660407	71660407	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtacacgtcataagcaaaaTactgaggtaattttaaaaat	6	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:71660407T>A	uc002shx.2	+	27	6184	c.5865T>A	c.(5863-5865)AAT>AAA	p.N1955K	ZNF638_uc002shy.2_Missense_Mutation_p.N1955K|ZNF638_uc002shz.2_Missense_Mutation_p.N1934K|ZNF638_uc002sia.2_Missense_Mutation_p.N1955K|ZNF638_uc010fed.2_RNA|ZNF638_uc002sic.2_Missense_Mutation_p.N1052K|ZNF638_uc002sid.2_Missense_Mutation_p.N324K	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	1955	Matrin-type.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						ATAAGCAAAATACTGAGGTAA	0.358													A	71660407	T	A	71660407	3	1	27	1	0	0	0	0	1	0	0	0	18052	1403	49	5	5967	5	ZNF638	2	71660407	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	34539	71660407	171538966	1016	24967											
DYSF	8291	broad.mit.edu	37	chr2	71795459	71795459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagattggttcgtgtgtcCggagaagacgtgagtcgtgg	18	5	0	4	rs150717638		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:71795459C>T	uc002sie.2	+	26	3177	c.2801C>T	c.(2800-2802)CCG>CTG	p.P934L	DYSF_uc010feg.2_Missense_Mutation_p.P965L|DYSF_uc010feh.2_Missense_Mutation_p.P920L|DYSF_uc002sig.3_Missense_Mutation_p.P920L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.P934L|DYSF_uc010fef.2_Missense_Mutation_p.P951L|DYSF_uc010fei.2_Missense_Mutation_p.P951L|DYSF_uc010fek.2_Missense_Mutation_p.P952L|DYSF_uc010fej.2_Missense_Mutation_p.P921L|DYSF_uc010fel.2_Missense_Mutation_p.P921L|DYSF_uc010feo.2_Missense_Mutation_p.P966L|DYSF_uc010fem.2_Missense_Mutation_p.P935L|DYSF_uc010fen.2_Missense_Mutation_p.P952L|DYSF_uc002sif.2_Missense_Mutation_p.P935L	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	934	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						TTCGTGTGTCCGGAGAAGACG	0.632													T	71795459	C	T	71795459	3	4	27	1	0	0	0	0	1	0	0	0	4859	652	23	1	3095	1	DYSF	2	71795459	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	135052	71795459	171403914	1017	24968											
DYSF	8291	broad.mit.edu	37	chr2	71891479	71891479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgacctcctctccaaggaCgaaaagatcggtgagacggt	11	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:71891479C>T	uc002sie.2	+	45	5344	c.4968C>T	c.(4966-4968)GAC>GAT	p.D1656D	DYSF_uc010feg.2_Silent_p.D1687D|DYSF_uc010feh.2_Silent_p.D1663D|DYSF_uc002sig.3_Silent_p.D1642D|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.D1677D|DYSF_uc010fef.2_Silent_p.D1694D|DYSF_uc010fei.2_Silent_p.D1673D|DYSF_uc010fek.2_Silent_p.D1674D|DYSF_uc010fej.2_Silent_p.D1664D|DYSF_uc010fel.2_Silent_p.D1643D|DYSF_uc010feo.2_Silent_p.D1688D|DYSF_uc010fem.2_Silent_p.D1678D|DYSF_uc010fen.2_Silent_p.D1695D|DYSF_uc002sif.2_Silent_p.D1657D|DYSF_uc010yqy.1_Silent_p.D537D|DYSF_uc010yqz.1_Silent_p.D417D	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1656	Cytoplasmic (Potential).|C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						TCTCCAAGGACGAAAAGATCG	0.552													T	71891479	C	T	71891479	2	4	27	1	0	0	0	0	0	0	0	1	4859	535	19	1		1	DYSF	2	71891479	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	96020	71891479	171307894	1018	24969											
CCT7	10574	broad.mit.edu	37	chr2	73476280	73476280	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtgctggccgagtaccTgaggaggatctgaagaggac	15	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:73476280T>G	uc002siz.2	+	8	1047	c.945T>G	c.(943-945)CCT>CCG	p.P315P	CCT7_uc002sja.2_Silent_p.P111P|CCT7_uc010yrf.1_Silent_p.P271P|CCT7_uc010feu.2_Silent_p.P273P|CCT7_uc010yrg.1_Silent_p.P215P|CCT7_uc010yrh.1_Silent_p.P187P|CCT7_uc010yri.1_Silent_p.P228P	NM_006429	NP_006420	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 isoform a	315					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding				0						GCCGAGTACCTGAGGAGGATC	0.512													G	73476280	T	G	73476280	2	3	27	1	0	0	0	0	0	0	0	1	2959	1567	55	5		5	CCT7	2	73476280	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1584801	73476280	169723093	1019	24970											
CCT7	10574	broad.mit.edu	37	chr2	73479767	73479767	+	Splice_Site	DEL	G	G	-													tttcttttcctactcttttaGgggggtacatggtatggagt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:73479766_73479766AG>A	uc002siz.3	+	12	1554	c.1411_splice	c.e12-2	p.G471_splice	CCT7_uc010yrf.2_Splice_Site_p.G427_splice|CCT7_uc010yrh.2_Splice_Site_p.G343_splice|CCT7_uc010yrg.2_Splice_Site_p.G371_splice|CCT7_uc010yri.2_Splice_Site_p.G384_splice|CCT7_uc002sja.3_Splice_Site_p.G267_splice	NM_006429	NP_001159757	Q99832	TCPH_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 7 (eta) (CCT7), transcript variant 1, mRNA.	471					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CTACTCTTTTAGGGGGGTACA	0.463													-	73479767	G	-	73479767	8	5	27	1	0	1	0	1	0	0	1	0	2959	1014	35	0	1456	0	CCT7	2	73479767	Splice_Site	DEL	G	TCGA-BR-6452-01A-12D-1800-08	3487	73479767	169719606	1020	24971											
EGR4	1961	broad.mit.edu	37	chr2	73519364	73519364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaaacgagcctccggggCggcctggtagtctccctgtg	16	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:73519364C>T	uc010yrj.1	-	2	1066	c.991G>A	c.(991-993)GCC>ACC	p.A331T	EGR4_uc010yrk.1_Missense_Mutation_p.A330T	NM_001965	NP_001956	Q05215	EGR4_HUMAN	early growth response 4	227						intracellular	nucleic acid binding|zinc ion binding				0						GCCTCCGGGGCGGCCTGGTAG	0.632													T	73519364	C	T	73519364	3	4	27	1	0	0	0	0	1	0	0	0	4974	768	27	1	782	1	EGR4	2	73519364	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	39597	73519364	169680009	1021	24972											
ALMS1	7840	broad.mit.edu	37	chr2	73679769	73679769	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaccaaatgaccagaagactCcatcccagacagcttttcat	6	13	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:73679769C>A	uc002sje.1	+	10	6229	c.6118C>A	c.(6118-6120)CCA>ACA	p.P2040T	ALMS1_uc002sjf.1_Missense_Mutation_p.P1996T|ALMS1_uc002sjg.2_Missense_Mutation_p.P1426T|ALMS1_uc002sjh.1_Missense_Mutation_p.P1426T	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2038	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						CCAGAAGACTCCATCCCAGAC	0.398													A	73679769	C	A	73679769	3	1	27	1	0	0	0	0	1	0	0	0	535	855	30	5	6142	5	ALMS1	2	73679769	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	160405	73679769	169519604	1022	24973											
ALMS1	7840	broad.mit.edu	37	chr2	73717072	73717072	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aactttatacctgatgaattCaaaatcagcaaaggtcttcg	6	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:73717072C>A	uc002sje.1	+	12	8100	c.7989C>A	c.(7987-7989)TTC>TTA	p.F2663L	ALMS1_uc002sjf.1_Missense_Mutation_p.F2619L|ALMS1_uc002sjg.2_Missense_Mutation_p.F2049L|ALMS1_uc002sjh.1_Missense_Mutation_p.F2049L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2661					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						CTGATGAATTCAAAATCAGCA	0.393													A	73717072	C	A	73717072	3	1	27	1	0	0	0	0	1	0	0	0	535	825	29	5	8021	5	ALMS1	2	73717072	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	37303	73717072	169482301	1023	24974											
ALMS1	7840	broad.mit.edu	37	chr2	73717193	73717193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcattcttcatcacaaatgCcgtccccagaacccatgaaa	4	14	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:73717193C>T	uc002sje.1	+	12	8221	c.8110C>T	c.(8110-8112)CCG>TCG	p.P2704S	ALMS1_uc002sjf.1_Missense_Mutation_p.P2660S|ALMS1_uc002sjg.2_Missense_Mutation_p.P2090S|ALMS1_uc002sjh.1_Missense_Mutation_p.P2090S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2702					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						ATCACAAATGCCGTCCCCAGA	0.408													T	73717193	C	T	73717193	3	4	27	1	0	0	0	0	1	0	0	0	535	739	26	2	8142	2	ALMS1	2	73717193	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	121	73717193	169482180	1024	24975											
ALMS1	7840	broad.mit.edu	37	chr2	73717520	73717520	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttcaagaagaaaaacccTtagaaagatcagattttaca	5	7	2	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:73717520T>G	uc002sje.1	+	12	8548	c.8437T>G	c.(8437-8439)TTA>GTA	p.L2813V	ALMS1_uc002sjf.1_Missense_Mutation_p.L2769V|ALMS1_uc002sjg.2_Missense_Mutation_p.L2199V|ALMS1_uc002sjh.1_Missense_Mutation_p.L2199V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2811					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						AGAAAAACCCTTAGAAAGATC	0.358													G	73717520	T	G	73717520	3	3	27	1	0	0	0	0	1	0	0	0	535	1606	56	5	8469	5	ALMS1	2	73717520	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	327	73717520	169481853	1025	24976											
DUSP11	8446	broad.mit.edu	37	chr2	74007024	74007026	+	In_Frame_Del	DEL	CTT	CTT	-													tcggggatgtggtttccgccCttcttcttggctgaggagcg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:74007023_74007025CCTT>C	uc002sjp.3	-	0	260_262	c.218_220AAGG>G	c.(217-222)aagggc>aGgc	p.73_74KG>R	DUSP11_uc002sjq.4_In_Frame_Del_p.73_74KG>R	NM_003584	NP_003575	O75319	DUS11_HUMAN	Homo sapiens dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) (DUSP11), mRNA.	26					RNA processing	nucleus	RNA binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						TGGTTTCCGCCCTTCTTCTTGGC	0.606											OREG0014714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	74007026	CTT	-	74007024	7	5	27	1	0	1	0	1	0	0	0	0	4811	680	24	0	950	0	DUSP11	2	74007024	In_Frame_Del	DEL	CTT	TCGA-BR-6452-01A-12D-1800-08	289504	74007024	169192349	1026	24977											
SLC4A5	57835	broad.mit.edu	37	chr2	74452027	74452027	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcttgtctgtctccttTttttccttctctgggaggat	7	11	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:74452027T>C	uc002sko.1	-	24	3236	c.3234A>G	c.(3232-3234)AAA>AAG	p.K1078K	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Silent_p.K1062K|SLC4A5_uc010ffc.1_Silent_p.K981K|SLC4A5_uc002skp.1_Silent_p.K960K|SLC4A5_uc002sks.1_Missense_Mutation_p.K970R	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	1078	Extracellular (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						CTGTCTCCTTTTTTTCCTTCT	0.517													C	74452027	T	C	74452027	2	2	27	1	0	0	0	0	0	0	0	1	14657	1838	64	3		3	SLC4A5	2	74452027	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	445003	74452027	168747346	1027	24978											
SLC4A5	57835	broad.mit.edu	37	chr2	74482997	74482997	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctaggaagtccacctcGcccacgagcacgttggacgc	12	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:74482997G>A	uc002sko.1	-	8	932	c.930C>T	c.(928-930)GGC>GGT	p.G310G	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Silent_p.G310G|SLC4A5_uc010ffc.1_Silent_p.G310G|SLC4A5_uc002skp.1_Silent_p.G246G|SLC4A5_uc002sks.1_Silent_p.G310G	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	310	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						AGTCCACCTCGCCCACGAGCA	0.582													A	74482997	G	A	74482997	2	1	27	1	0	0	0	0	0	0	0	1	14657	1074	38	1		1	SLC4A5	2	74482997	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	30970	74482997	168716376	1028	24979											
SLC4A5	57835	broad.mit.edu	37	chr2	74489328	74489328	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggagtggtgtagactcggGccagcaccagggctccgggc	18	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:74489328G>A	uc002sko.1	-	6	749	c.747C>T	c.(745-747)GGC>GGT	p.G249G	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Silent_p.G249G|SLC4A5_uc010ffc.1_Silent_p.G249G|SLC4A5_uc002skp.1_Silent_p.G185G|SLC4A5_uc002sks.1_Silent_p.G249G	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	249	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						GTAGACTCGGGCCAGCACCAG	0.587													A	74489328	G	A	74489328	2	1	27	1	0	0	0	0	0	0	0	1	14657	1190	42	2		2	SLC4A5	2	74489328	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	6331	74489328	168710045	1029	24980											
WDR54	84058	broad.mit.edu	37	chr2	74652568	74652568	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctgcaggtgaggacaccTttgtgcatatctggaagctg	12	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:74652568T>C	uc002slb.2	+	9	883	c.823T>C	c.(823-825)TTT>CTT	p.F275L		NM_032118	NP_115494	Q9H977	WDR54_HUMAN	WD repeat domain 54	275	WD 4.										0						TGAGGACACCTTTGTGCATAT	0.577													C	74652568	T	C	74652568	3	2	27	1	0	0	0	0	1	0	0	0	17303	1609	56	3	853	3	WDR54	2	74652568	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	163240	74652568	168546805	1030	24981											
WBP1	23559	broad.mit.edu	37	chr2	74687410	74687411	+	Frame_Shift_Ins	INS	-	-	C													tcaccgcccaggcacaccacINScccccccttatactgtggcc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:74687409_74687410A>AC	uc002slj.2	+	3	614_615	c.411_412A>AC	c.(409-414)ccacccfs	p.P137fs	INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002sll.2_Non-coding_Transcript	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	Homo sapiens WW domain binding protein 1 (WBP1), mRNA.	137							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CAGGCACACCACCCCCCCCTTA	0.584													C	74687411	-	C	74687410	7	5	27	1	0	1	1	0	0	0	0	0	17254	507	18	0	426	0	WBP1	2	74687410	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	34842	74687410	168511963	1031	24982											
AUP1	550	broad.mit.edu	37	chr2	74754634	74754634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacccaatggcacatgggGcaaaacttccttgactctct	8	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:74754634G>A	uc010yrx.1	-	8	1222	c.1096C>T	c.(1096-1098)CCC>TCC	p.P366S	DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_Missense_Mutation_p.P42S|AUP1_uc002smf.2_Missense_Mutation_p.P309S|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Missense_Mutation_p.P218S|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank			Q9Y679	AUP1_HUMAN	SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA;	375	Cytoplasmic (Potential).|CUE.					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding				0						GGCACATGGGGCAAAACTTCC	0.547													A	74754634	G	A	74754634	3	1	27	1	0	0	0	0	1	0	0	0	1220	1203	42	2	323	2	AUP1	2	74754634	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	67224	74754634	168444739	1032	24983											
HTRA2	27429	broad.mit.edu	37	chr2	74759794	74759794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagctttcccgatgttcaGcatggtgtactcatccataa	7	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:74759794G>A	uc002smi.1	+	7	1766	c.1164G>A	c.(1162-1164)CAG>CAA	p.Q388Q	AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Intron|HTRA2_uc002smk.1_Intron|HTRA2_uc002sml.1_Intron|HTRA2_uc002smm.1_Silent_p.Q129Q|HTRA2_uc002smn.1_Silent_p.Q129Q	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	388	PDZ.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1						CCGATGTTCAGCATGGTGTAC	0.532													A	74759794	G	A	74759794	2	1	27	1	0	0	0	0	0	0	0	1	7454	962	34	2		2	HTRA2	2	74759794	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5160	74759794	168439579	1033	24984											
DOK1	1796	broad.mit.edu	37	chr2	74783646	74783646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagttgccttccccacctgGcccccaagagctcctcgaca	8	18	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:74783646G>A	uc002sms.2	+	5	873	c.851G>A	c.(850-852)GGC>GAC	p.G284D	LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.2_Missense_Mutation_p.G145D|DOK1_uc010ffo.2_Missense_Mutation_p.G145D|DOK1_uc002smt.2_Missense_Mutation_p.G70D|DOK1_uc002smu.2_Missense_Mutation_p.G70D|DOK1_uc010yrz.1_Missense_Mutation_p.G273D|DOK1_uc002smv.2_Missense_Mutation_p.G145D|DOK1_uc002smw.1_Missense_Mutation_p.G70D	NM_001381	NP_001372	Q99704	DOK1_HUMAN	docking protein 1	284	Pro-rich.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding				0						TCCCCACCTGGCCCCCAAGAG	0.627													A	74783646	G	A	74783646	3	1	27	1	0	0	0	0	1	0	0	0	4696	1203	42	2	869	2	DOK1	2	74783646	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	23852	74783646	168415727	1034	24985											
C2orf65	130951	broad.mit.edu	37	chr2	74789369	74789369	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattcttaaggctatcatcaTgtgggtcctcaggtagcagg	11	9	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:74789369T>G	uc002smy.2	-	8	1373	c.1256A>C	c.(1255-1257)CAT>CCT	p.H419P	C2orf65_uc010ysa.1_Missense_Mutation_p.H419P|C2orf65_uc010ffp.2_Intron|C2orf65_uc002smx.2_Missense_Mutation_p.H175P	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	hypothetical protein LOC130951	419					chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				ovary(1)|pancreas(1)	2						GCTATCATCATGTGGGTCCTC	0.557													G	74789369	T	G	74789369	3	3	27	1	0	0	0	0	1	0	0	0	2184	1464	51	5	352	5	C2orf65	2	74789369	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	5723	74789369	168410004	1035	24986											
SEMA4F	10505	broad.mit.edu	37	chr2	74883728	74883728	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactctgttctccttgtggaTcctgcctcccacacacttta	5	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:74883728T>C	uc002sna.1	+	2	324	c.213T>C	c.(211-213)GAT>GAC	p.D71D	SEMA4F_uc010ysb.1_Silent_p.D71D|SEMA4F_uc010ffq.1_Silent_p.D71D|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Silent_p.D71D	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	71	Sema.|Extracellular (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4						TCCTTGTGGATCCTGCCTCCC	0.557													C	74883728	T	C	74883728	2	2	27	1	0	0	0	0	0	0	0	1	14035	1432	50	3		3	SEMA4F	2	74883728	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	94359	74883728	168315645	1036	24987											
HK2	3099	broad.mit.edu	37	chr2	75101407	75101407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaggcacgggcagcaacGcctgctacatggaagagatg	15	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:75101407G>A	uc002snd.2	+	7	2632	c.706G>A	c.(706-708)GCC>ACC	p.A236T		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	236	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2						GGGCAGCAACGCCTGCTACAT	0.607													A	75101407	G	A	75101407	3	1	27	1	0	0	0	0	1	0	0	0	7191	1087	38	1	732	1	HK2	2	75101407	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	217679	75101407	168097966	1037	24988											
FAM176A	84141	broad.mit.edu	37	chr2	75720435	75720435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagatctccctgatgatgCgctcgcgctcctccagccgc	9	18	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:75720435C>T	uc002sni.2	-	4	864	c.386G>A	c.(385-387)CGC>CAC	p.R129H	FAM176A_uc002snj.1_Missense_Mutation_p.R116H|FAM176A_uc002snk.1_Missense_Mutation_p.R129H	NM_001135032	NP_001128504	Q9H8M9	F176A_HUMAN	family with sequence similarity 176, member A	129					apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane					0						CCTGATGATGCGCTCGCGCTC	0.622													T	75720435	C	T	75720435	3	4	27	1	0	0	0	0	1	0	0	0	5499	768	27	1	76	1	FAM176A	2	75720435	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	619028	75720435	167478938	1038	24989											
C2orf3	6936	broad.mit.edu	37	chr2	75899123	75899123	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttggaactttgaatgaggtgAtgttttgttttctacagcac	10	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:75899123A>T	uc002sno.2	-	14	2039	c.1909T>A	c.(1909-1911)TCA>ACA	p.S637T	C2orf3_uc010ffs.2_Missense_Mutation_p.S199T|C2orf3_uc002snn.2_Missense_Mutation_p.S468T|C2orf3_uc010fft.2_Missense_Mutation_p.S312T	NM_003203	NP_003194	P16383	GCF_HUMAN	hypothetical protein LOC6936	637					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						GAATGAGGTGATGTTTTGTTT	0.343													T	75899123	A	T	75899123	3	4	27	1	0	0	0	0	1	0	0	0	2162	333	12	5	452	5	C2orf3	2	75899123	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	178688	75899123	167300250	1039	24990											
REG1A	5967	broad.mit.edu	37	chr2	79349971	79349971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccttccccatctagaaccGccgctggcactggagcagtg	11	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:79349971G>A	uc002snz.2	+	5	429	c.326G>A	c.(325-327)CGC>CAC	p.R109H	REG1A_uc010ysd.1_Missense_Mutation_p.R109H	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	109	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0						ATCTAGAACCGCCGCTGGCAC	0.547													A	79349971	G	A	79349971	3	1	27	1	0	0	0	0	1	0	0	0	13210	1087	38	1	340	1	REG1A	2	79349971	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3450848	79349971	163849402	1040	24991											
CTNNA2	1496	broad.mit.edu	37	chr2	80136866	80136866	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgcgagaggatcgtggcGgagtgcaacgccgtgcggca	19	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:80136866G>A	uc010ysh.1	+	6	1004	c.999G>A	c.(997-999)GCG>GCA	p.A333A	CTNNA2_uc010yse.1_Silent_p.A333A|CTNNA2_uc010ysf.1_Silent_p.A333A|CTNNA2_uc010ysg.1_Silent_p.A333A	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	333					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						GGATCGTGGCGGAGTGCAACG	0.617													A	80136866	G	A	80136866	2	1	27	1	0	0	0	0	0	0	0	1	4013	1103	39	1		1	CTNNA2	2	80136866	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	786895	80136866	163062507	1041	24992											
LRRTM1	347730	broad.mit.edu	37	chr2	80529659	80529659	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgagggccatggtgcccgtgAccaccttgtggatctgcacg	14	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:80529659A>T	uc002sok.1	-	2	1556	c.1286T>A	c.(1285-1287)GTC>GAC	p.V429D	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	429	Helical; (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GGTGCCCGTGACCACCTTGTG	0.647										HNSCC(69;0.2)			T	80529659	A	T	80529659	3	4	27	1	0	0	0	0	1	0	0	0	9039	275	10	5	286	5	LRRTM1	2	80529659	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	392793	80529659	162669714	1042	24993			1	7		6	6	929	N	T_G_C_A	8.1785e-06
LRRTM1	347730	broad.mit.edu	37	chr2	80529813	80529813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatcactgcggttggtgaCggccgagagcaggtggccgc	17	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:80529813C>T	uc002sok.1	-	2	1402	c.1132G>A	c.(1132-1134)GTC>ATC	p.V378I	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	378	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						CGGTTGGTGACGGCCGAGAGC	0.721										HNSCC(69;0.2)			T	80529813	C	T	80529813	3	4	27	1	0	0	0	0	1	0	0	0	9039	536	19	1	440	1	LRRTM1	2	80529813	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	154	80529813	162669560	1043	24994			1	7		6	6	929	N	T_G_C_A	8.1785e-06
LRRTM1	347730	broad.mit.edu	37	chr2	80530105	80530105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgcagggactgcaggtgCggcacggtctcgaacacatg	15	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:80530105C>T	uc002sok.1	-	2	1110	c.840G>A	c.(838-840)CCG>CCA	p.P280P	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	280	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						ACTGCAGGTGCGGCACGGTCT	0.592										HNSCC(69;0.2)			T	80530105	C	T	80530105	2	4	27	1	0	0	0	0	0	0	0	1	9039	755	27	1		1	LRRTM1	2	80530105	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	292	80530105	162669268	1044	24995			1	7		6	6	929	N	T_G_C_A	8.1785e-06
LRRTM1	347730	broad.mit.edu	37	chr2	80530309	80530309	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgctcgaggtgcagctcGgtgagcttaaacaagccggc	14	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:80530309G>A	uc002sok.1	-	2	906	c.636C>T	c.(634-636)ACC>ACT	p.T212T	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	212	LRR 6.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GGTGCAGCTCGGTGAGCTTAA	0.582										HNSCC(69;0.2)			A	80530309	G	A	80530309	2	1	27	1	0	0	0	0	0	0	0	1	9039	1103	39	1		1	LRRTM1	2	80530309	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	204	80530309	162669064	1045	24996			1	7		6	6	929	N	T_G_C_A	8.1785e-06
LRRTM1	347730	broad.mit.edu	37	chr2	80530481	80530481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgcagcccgtggaagaggTcgggcgcgagcgcctgcagc	17	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:80530481T>C	uc002sok.1	-	2	734	c.464A>G	c.(463-465)GAC>GGC	p.D155G	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	155	LRR 3.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GTGGAAGAGGTCGGGCGCGAG	0.642										HNSCC(69;0.2)			C	80530481	T	C	80530481	3	2	27	1	0	0	0	0	1	0	0	0	9039	1667	58	3	1108	3	LRRTM1	2	80530481	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	172	80530481	162668892	1046	24997			1	7		6	6	929	N	T_G_C_A	8.1785e-06
LRRTM1	347730	broad.mit.edu	37	chr2	80530587	80530587	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatctggttggaactcaGcgtgagttccttaactcggc	13	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:80530587G>A	uc002sok.1	-	2	628	c.358C>T	c.(358-360)CTG>TTG	p.L120L	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	120	LRR 2.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						TTGGAACTCAGCGTGAGTTCC	0.587										HNSCC(69;0.2)			A	80530587	G	A	80530587	2	1	27	1	0	0	0	0	0	0	0	1	9039	962	34	2		2	LRRTM1	2	80530587	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	106	80530587	162668786	1047	24998			1	7		6	6	929	N	T_G_C_A	8.1785e-06
CTNNA2	1496	broad.mit.edu	37	chr2	80801432	80801432	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcagaaaggctgtgctgaTgatcagggtatgtgaggcct	14	7	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:80801432T>C	uc010ysh.1	+	12	1891	c.1886T>C	c.(1885-1887)ATG>ACG	p.M629T	CTNNA2_uc010yse.1_Missense_Mutation_p.M629T|CTNNA2_uc010ysf.1_Missense_Mutation_p.M629T|CTNNA2_uc010ysg.1_Missense_Mutation_p.M629T|CTNNA2_uc010ysi.1_Missense_Mutation_p.M261T	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	629					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						GCTGTGCTGATGATCAGGGTA	0.453													C	80801432	T	C	80801432	3	2	27	1	0	0	0	0	1	0	0	0	4013	1464	51	3	1724	3	CTNNA2	2	80801432	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	270845	80801432	162397941	1048	24999											
TGOLN2	10618	broad.mit.edu	37	chr2	85553786	85553786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggaatccgaaagtgtccCttcacggttctcactggagg	12	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:85553786C>T	uc010fgd.1	-	2	1358	c.1069G>A	c.(1069-1071)GGG>AGG	p.G357R	TGOLN2_uc002soz.2_Missense_Mutation_p.G357R|TGOLN2_uc002spa.2_RNA|TGOLN2_uc002spb.2_Missense_Mutation_p.G299R|TGOLN2_uc002spc.1_Missense_Mutation_p.G357R	NM_006464	NP_006455	O43493	TGON2_HUMAN	trans-golgi network protein 2	357	Extracellular (Potential).					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding				0						GAAAGTGTCCCTTCACGGTTC	0.527													T	85553786	C	T	85553786	3	4	27	1	0	0	0	0	1	0	0	0	15833	681	24	4	256	4	TGOLN2	2	85553786	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4752354	85553786	157645587	1049	25000											
GGCX	2677	broad.mit.edu	37	chr2	85785695	85785695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaataacacacagcttatcCggtagcacaggcccagcatc	9	13	0	0	rs140647479		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:85785695C>T	uc002sps.2	-	4	513	c.407G>A	c.(406-408)CGG>CAG	p.R136Q	GGCX_uc010yss.1_Missense_Mutation_p.R8Q|GGCX_uc010yst.1_Missense_Mutation_p.R79Q	NM_000821	NP_000812	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase isoform 1	136	Cytoplasmic (Potential).				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			ovary(1)	1					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	ACAGCTTATCCGGTAGCACAG	0.517													T	85785695	C	T	85785695	3	4	27	1	0	0	0	0	1	0	0	0	6356	652	23	1	1917	1	GGCX	2	85785695	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	231909	85785695	157413678	1050	25001											
SFTPB	6439	broad.mit.edu	37	chr2	85892879	85892879	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggctctggctgccgggaTttgcacaggcccaggtgcat	14	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:85892879T>C	uc002sqh.2	-	5	438	c.432A>G	c.(430-432)AAA>AAG	p.K144K	SFTPB_uc002sqi.2_Silent_p.K156K|SFTPB_uc002sqj.2_Silent_p.K144K	NM_198843	NP_942140	P07988	PSPB_HUMAN	surfactant, pulmonary-associated protein B	144	Saposin B-type 1.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				ovary(1)|central_nervous_system(1)	2						GCTGCCGGGATTTGCACAGGC	0.637													C	85892879	T	C	85892879	2	2	27	1	0	0	0	0	0	0	0	1	14191	1490	52	3		3	SFTPB	2	85892879	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	107184	85892879	157306494	1051	25002											
POLR1A	25885	broad.mit.edu	37	chr2	86280054	86280054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagcagcagtggaccaggcCgtaggcggagctcccatagt	14	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:86280054C>T	uc002sqs.2	-	16	2657	c.2278G>A	c.(2278-2280)GGC>AGC	p.G760S	POLR1A_uc010ytb.1_Missense_Mutation_p.G126S	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	760					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						TGGACCAGGCCGTAGGCGGAG	0.627													T	86280054	C	T	86280054	3	4	27	1	0	0	0	0	1	0	0	0	12209	652	23	1	2960	1	POLR1A	2	86280054	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	387175	86280054	156919319	1052	25003											
PTCD3	55037	broad.mit.edu	37	chr2	86352157	86352157	+	Silent	SNP	A	A	G													agaatcttttctctaatgccAgagaaaaatgaacattccta							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:86352157A>G	uc002sqw.2	+	10	822	c.756A>G	c.(754-756)CCA>CCG	p.P252P	PTCD3_uc010ytc.1_RNA|PTCD3_uc002sqx.1_5'UTR	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3 precursor	252						mitochondrion	protein binding			ovary(1)	1						CTCTAATGCCAGAGAAAAATG	0.318													G	86352157	A	G	86352157	2	3	27	1	0	0	0	0	0	0	0	1	12729	175	7	3		3	PTCD3	2	86352157	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	72103	86352157	156847216	1053	25004	82	2									
PTCD3	55037	broad.mit.edu	37	chr2	86352159	86352159	+	Missense_Mutation	SNP	A	A	G													aatcttttctctaatgccagAgaaaaatgaacattcctatt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:86352159A>G	uc002sqw.2	+	10	824	c.758A>G	c.(757-759)GAG>GGG	p.E253G	PTCD3_uc010ytc.1_RNA|PTCD3_uc002sqx.1_5'UTR	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3 precursor	253						mitochondrion	protein binding			ovary(1)	1						CTAATGCCAGAGAAAAATGAA	0.318													G	86352159	A	G	86352159	3	3	27	1	0	0	0	0	1	0	0	0	12729	304	11	3	796	3	PTCD3	2	86352159	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2	86352159	156847214	1054	25005	82	2									
SMYD1	150572	broad.mit.edu	37	chr2	88384012	88384012	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccaatgagaacatcagGtgagagctgggcaccctggt	14	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:88384012G>C	uc002ssr.2	+	2	316	c.314_splice	c.e2+1	p.R105_splice	SMYD1_uc002ssq.1_Intron	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						AGAACATCAGGTGAGAGCTGG	0.512													C	88384012	G	C	88384012	5	2	27	1	0	0	0	0	0	0	1	0	14821	1275	44	5	321	5	SMYD1	2	88384012	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2031853	88384012	154815361	1055	25006											
SMYD1	150572	broad.mit.edu	37	chr2	88390634	88390634	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaccatgactgttggcccaActgtactgtcatatttaaca	7	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:88390634A>G	uc002ssr.2	+	4	634	c.632A>G	c.(631-633)AAC>AGC	p.N211S	SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_5'UTR	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	211	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						TGTTGGCCCAACTGTACTGTC	0.507													G	88390634	A	G	88390634	3	3	27	1	0	0	0	0	1	0	0	0	14821	43	2	3	646	3	SMYD1	2	88390634	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	6622	88390634	154808739	1056	25007											
FABP1	2168	broad.mit.edu	37	chr2	88425860	88425860	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttctggatgagctcttcCggcagacctggtggaaaccg	12	13	2	2	rs145520267	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:88425860C>T	uc002sst.1	-	2	117	c.75G>A	c.(73-75)CCG>CCA	p.P25P	FABP1_uc002ssu.2_Silent_p.P25P	NM_001443	NP_001434	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	25					organ morphogenesis						0						TGAGCTCTTCCGGCAGACCTG	0.527													T	88425860	C	T	88425860	2	4	27	1	0	0	0	0	0	0	0	1	5355	639	23	1		1	FABP1	2	88425860	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	35226	88425860	154773513	1057	25008											
C2orf51	200523	broad.mit.edu	37	chr2	88828944	88828944	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcattgccatatagtcaaGgtccccatcttgaaccggtg	8	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:88828944G>T	uc002stb.1	+	4	637	c.495G>T	c.(493-495)AAG>AAT	p.K165N		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	chromosome 2 open reading frame 51	165						nucleus				skin(1)	1						ATATAGTCAAGGTCCCCATCT	0.522													T	88828944	G	T	88828944	3	4	27	1	0	0	0	0	1	0	0	0	2173	991	35	5	505	5	C2orf51	2	88828944	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	403084	88828944	154370429	1058	25009											
EIF2AK3	9451	broad.mit.edu	37	chr2	88874529	88874529	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaatatgcaatcgattAgttttcggctcttctttact	6	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:88874529A>G	uc002stc.3	-	13	2674	c.2472T>C	c.(2470-2472)ACT>ACC	p.T824T		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	824	Cytoplasmic (Potential).|Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GCAATCGATTAGTTTTCGGCT	0.398													G	88874529	A	G	88874529	2	3	27	1	0	0	0	0	0	0	0	1	4998	407	15	3		3	EIF2AK3	2	88874529	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	45585	88874529	154324844	1059	25010											
EIF2AK3	9451	broad.mit.edu	37	chr2	88885468	88885468	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtgtaaaagaagaacaggaTcctttttgcggatattcttg	10	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:88885468T>A	uc002stc.3	-	9	1743	c.1541A>T	c.(1540-1542)GAT>GTT	p.D514V		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	514	Lumenal (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						AAGAACAGGATCCTTTTTGCG	0.398													A	88885468	T	A	88885468	3	1	27	1	0	0	0	0	1	0	0	0	4998	1435	50	5	1845	5	EIF2AK3	2	88885468	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	10939	88885468	154313905	1060	25011											
MRPS5	64969	broad.mit.edu	37	chr2	95780890	95780891	+	Frame_Shift_Ins	INS	-	-	T													tacagcattgtgtctgcagtINSgcacggctcaagctggcgta							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:95780889_95780890G>GT	uc002sub.3	-	2	416_417	c.198_199C>AC	c.(196-201)gcactgfs	p.A66fs	MRPS5_uc002suc.3_Non-coding_Transcript|MRPS5_uc010yud.1_Frame_Shift_Ins_p.A66fs	NM_031902	NP_114108	P82675	RT05_HUMAN	Homo sapiens mitochondrial ribosomal protein S5 (MRPS5), nuclear gene encoding mitochondrial protein, mRNA.	66					translation	mitochondrion|ribosome	RNA binding|protein binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TGTGTCTGCAGTGCACGGCTCA	0.46											OREG0014795	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	95780891	-	T	95780890	7	5	27	1	0	1	1	0	0	0	0	0	9846	1683	59	0	1134	0	MRPS5	2	95780890	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	6895422	95780890	147418483	1061	25012											
ZNF514	84874	broad.mit.edu	37	chr2	95815326	95815326	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctctgatgcttaataagggAtgaagtgtgaccaaaggctc	11	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:95815326A>T	uc002sue.1	-	5	1278	c.904T>A	c.(904-906)TCC>ACC	p.S302T	ZNF514_uc002sud.1_Missense_Mutation_p.S375T	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	zinc finger protein 514	302	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTAATAAGGGATGAAGTGTGA	0.453													T	95815326	A	T	95815326	3	4	27	1	0	0	0	0	1	0	0	0	17956	333	12	5	302	5	ZNF514	2	95815326	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	34436	95815326	147384047	1062	25013											
ZNF514	84874	broad.mit.edu	37	chr2	95818505	95818505	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatcacatatggtttggatActagaaggcctgatggtaga	12	5	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:95818505A>G	uc002sue.1	-	4	505	c.131T>C	c.(130-132)GTA>GCA	p.V44A	ZNF514_uc002sud.1_Missense_Mutation_p.V117A	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	zinc finger protein 514	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGGTTTGGATACTAGAAGGCC	0.483													G	95818505	A	G	95818505	3	3	27	1	0	0	0	0	1	0	0	0	17956	391	14	3	1079	3	ZNF514	2	95818505	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3179	95818505	147380868	1063	25014											
ZNF2	7549	broad.mit.edu	37	chr2	95846958	95846958	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcctaaatttgaagttcatAcacccaatggcaggatggga	10	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:95846958A>G	uc002suf.2	+	5	847	c.385A>G	c.(385-387)ACA>GCA	p.T129A	ZNF2_uc002sug.2_Missense_Mutation_p.T87A|ZNF2_uc010yue.1_Missense_Mutation_p.T91A|ZNF2_uc010fhs.2_Missense_Mutation_p.T49A	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2 isoform a	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		TGAAGTTCATACACCCAATGG	0.498													G	95846958	A	G	95846958	3	3	27	1	0	0	0	0	1	0	0	0	17757	391	14	3	399	3	ZNF2	2	95846958	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	28453	95846958	147352415	1064	25015											
ZNF2	7549	broad.mit.edu	37	chr2	95847534	95847534	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgagtgtaacgagtgcgggAaagctttctatggtgtctcg	14	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:95847534A>G	uc002suf.2	+	6	1420	c.958A>G	c.(958-960)AAA>GAA	p.K320E	ZNF2_uc002sug.2_Missense_Mutation_p.K278E|ZNF2_uc010yue.1_Missense_Mutation_p.K283E|ZNF2_uc010fhs.2_Missense_Mutation_p.K241E	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2 isoform a	320	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CGAGTGCGGGAAAGCTTTCTA	0.478													G	95847534	A	G	95847534	3	3	27	1	0	0	0	0	1	0	0	0	17757	247	9	3	975	3	ZNF2	2	95847534	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	576	95847534	147351839	1065	25016											
PROM2	150696	broad.mit.edu	37	chr2	95947020	95947020	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcttcctctttgctgcAcccctcatcctcctggtgtt	6	17	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:95947020A>G	uc002suh.1	+	12	1591	c.1458A>G	c.(1456-1458)GCA>GCG	p.A486A	PROM2_uc002sui.2_Silent_p.A486A|PROM2_uc002suj.2_Silent_p.A140A|PROM2_uc002suk.2_Silent_p.A486A|PROM2_uc002sul.2_Silent_p.A12A|PROM2_uc002sum.2_RNA	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	486	Helical; (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1						TCTTTGCTGCACCCCTCATCC	0.637													G	95947020	A	G	95947020	2	3	27	1	0	0	0	0	0	0	0	1	12556	146	6	3		3	PROM2	2	95947020	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	99486	95947020	147252353	1066	25017											
ADRA2B	151	broad.mit.edu	37	chr2	96781266	96781266	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggcccccccttggccCtgggacctctgcggttgctg	13	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:96781266C>A	uc002svi.2	-	1	623	c.623G>T	c.(622-624)AGG>ATG	p.R208M		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	208	Cytoplasmic (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CCCCTTGGCCCTGGGACCTCT	0.627													A	96781266	C	A	96781266	3	1	27	1	0	0	0	0	1	0	0	0	338	681	24	5	724	5	ADRA2B	2	96781266	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	834246	96781266	146418107	1067	25018											
TMEM127	55654	broad.mit.edu	37	chr2	96920595	96920595	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggatatgggcgaaggcatAgcgacgagtgatcttcagag	15	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:96920595A>G	uc002svq.2	-	3	642	c.385T>C	c.(385-387)TAT>CAT	p.Y129H	TMEM127_uc002svr.2_Missense_Mutation_p.Y129H	NM_017849	NP_060319	O75204	TM127_HUMAN	transmembrane protein 127	129					negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane					0						GCGAAGGCATAGCGACGAGTG	0.582									Pheochromocytoma_(Adrenal)_Familial				G	96920595	A	G	96920595	3	3	27	1	0	0	0	0	1	0	0	0	16037	420	15	3	339	3	TMEM127	2	96920595	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	139329	96920595	146278778	1068	25019											
LMAN2L	81562	broad.mit.edu	37	chr2	97377612	97377612	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gactctcaccgtcaaatgccTcttgacgtagcgaatcacca	7	14	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:97377612T>A	uc002swu.2	-	5	694	c.658A>T	c.(658-660)AGG>TGG	p.R220W	LMAN2L_uc002swv.2_Missense_Mutation_p.R231W|LMAN2L_uc010yut.1_Missense_Mutation_p.R86W|LMAN2L_uc010yuu.1_Missense_Mutation_p.R84W|LMAN2L_uc010yuv.1_Missense_Mutation_p.R73W|LMAN2L_uc010yuw.1_Missense_Mutation_p.R75W|LMAN2L_uc002sww.2_Missense_Mutation_p.R73W|LMAN2L_uc010yux.1_Missense_Mutation_p.R75W	NM_030805	NP_110432	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like isoform 2	220	L-type lectin-like.|Lumenal (Potential).				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding				0						GTCAAATGCCTCTTGACGTAG	0.537													A	97377612	T	A	97377612	3	1	27	1	0	0	0	0	1	0	0	0	8839	1550	54	5	404	5	LMAN2L	2	97377612	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	457017	97377612	145821761	1069	25020											
CNNM3	26505	broad.mit.edu	37	chr2	97490873	97490873	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctacgaggtcctgggcctggTcaccctggaggacgtgatcg	15	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:97490873T>A	uc002swy.2	+	2	1328	c.1304T>A	c.(1303-1305)GTC>GAC	p.V435D	CNNM3_uc002swz.2_Intron	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	cyclin M3 isoform 1	435	CBS 2.				ion transport	integral to membrane|plasma membrane	protein binding			ovary(1)	1						CTGGGCCTGGTCACCCTGGAG	0.597													A	97490873	T	A	97490873	3	1	27	1	0	0	0	0	1	0	0	0	3614	1667	58	5	1310	5	CNNM3	2	97490873	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	113261	97490873	145708500	1070	25021											
CNNM3	26505	broad.mit.edu	37	chr2	97493602	97493602	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accactacctgtaccagcgcAgccagccggtggattacttc	9	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:97493602A>G	uc002swy.2	+	4	1678	c.1654A>G	c.(1654-1656)AGC>GGC	p.S552G	CNNM3_uc002swz.2_Missense_Mutation_p.S504G	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	cyclin M3 isoform 1	552					ion transport	integral to membrane|plasma membrane	protein binding			ovary(1)	1						GTACCAGCGCAGCCAGCCGGT	0.587													G	97493602	A	G	97493602	3	3	27	1	0	0	0	0	1	0	0	0	3614	188	7	3	1668	3	CNNM3	2	97493602	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2729	97493602	145705771	1071	25022											
SEMA4C	54910	broad.mit.edu	37	chr2	97527061	97527061	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcatcgtagaggaaggAcccgggctgttccgcaggca	16	12	0	1	rs142553481	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:97527061A>T	uc002sxh.3	-	15	1964	c.1804T>A	c.(1804-1806)TCC>ACC	p.S602T	SEMA4C_uc002sxf.3_Missense_Mutation_p.S102T|SEMA4C_uc002sxe.2_Missense_Mutation_p.S143T|SEMA4C_uc002sxg.3_Missense_Mutation_p.S655T	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	semaphorin 4C precursor	602	Extracellular (Potential).|Ig-like C2-type.			S -> T (in Ref. 1; AAQ89201).	muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			skin(2)	2						TAGAGGAAGGACCCGGGCTGT	0.701													T	97527061	A	T	97527061	3	4	27	1	0	0	0	0	1	0	0	0	14033	275	10	5	701	5	SEMA4C	2	97527061	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	33459	97527061	145672312	1072	25023											
ANKRD36B	57730	broad.mit.edu	37	chr2	98162180	98162180	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggccatattcggaacagAatcttccttgtcacttgtag	9	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:98162180A>G	uc010yvc.1	-	24	1910	c.1630T>C	c.(1630-1632)TCT>CCT	p.S544P		NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B	544											0						TTCGGAACAGAATCTTCCTTG	0.318													G	98162180	A	G	98162180	3	3	27	1	0	0	0	0	1	0	0	0	666	246	9	3	2511	3	ANKRD36B	2	98162180	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	635119	98162180	145037193	1073	25024											
ANKRD36B	57730	broad.mit.edu	37	chr2	98175328	98175328	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagaatctttctcgtcacTtgtagcctgaatgggatttg	9	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:98175328T>C	uc010yvc.1	-	10	1181	c.901A>G	c.(901-903)AGT>GGT	p.S301G	ANKRD36B_uc010yve.1_RNA|ANKRD36B_uc010fif.2_RNA	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B	301											0						TTCTCGTCACTTGTAGCCTGA	0.318													C	98175328	T	C	98175328	3	2	27	1	0	0	0	0	1	0	0	0	666	1609	56	3	3296	3	ANKRD36B	2	98175328	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	13148	98175328	145024045	1074	25025											
ACTR1B	10120	broad.mit.edu	37	chr2	98275349	98275349	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggagcactcacagactgaGcacagcctgcatggagatga	13	10	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:98275349G>T	uc002syb.2	-	5	641	c.433C>A	c.(433-435)CTC>ATC	p.L145I		NM_005735	NP_005726	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B,	145						centrosome|dynactin complex	ATP binding|protein binding			skin(1)	1						CACAGACTGAGCACAGCCTGC	0.602													T	98275349	G	T	98275349	3	4	27	1	0	0	0	0	1	0	0	0	210	971	34	5	725	5	ACTR1B	2	98275349	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	100021	98275349	144924024	1075	25026											
ACTR1B	10120	broad.mit.edu	37	chr2	98275934	98275934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggatggtcagcagcccccGgtgctcctggtggggtggga	19	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:98275934G>A	uc002syb.2	-	4	404	c.196C>T	c.(196-198)CGG>TGG	p.R66W		NM_005735	NP_005726	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B,	66						centrosome|dynactin complex	ATP binding|protein binding			skin(1)	1						AGCAGCCCCCGGTGCTCCTGG	0.647													A	98275934	G	A	98275934	3	1	27	1	0	0	0	0	1	0	0	0	210	1115	39	1	966	1	ACTR1B	2	98275934	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	585	98275934	144923439	1076	25027											
LIPT1	51601	broad.mit.edu	37	chr2	99778419	99778419	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtcttccatttttaaaaGcatgctgatcccattttcaa	4	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:99778419G>A	uc002szm.3	+	4	340	c.0_splice	c.e4-1		MRPL30_uc002szl.1_Intron|LIPT1_uc002szn.3_Splice_Site|LIPT1_uc002szo.3_Splice_Site|LIPT1_uc002szp.3_Splice_Site|LIPT1_uc002szq.3_Splice_Site|MRPL30_uc002szr.2_Intron	NM_145198	NP_660199	Q9Y234	LIPT_HUMAN	lipoyltransferase 1 precursor						lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity				0					Lipoic Acid(DB00166)	ATTTTTAAAAGCATGCTGATC	0.318													A	99778419	G	A	99778419	5	1	27	1	0	0	0	0	0	0	1	0	8829	985	34	2	1	2	LIPT1	2	99778419	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1502485	99778419	143420954	1077	25028											
TXNDC9	10190	broad.mit.edu	37	chr2	99944055	99944055	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcactctccttgacttctTgaaaaaagtctctttcacta	3	11	5	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:99944055T>C	uc002szz.2	-	3	442	c.251A>G	c.(250-252)CAA>CGA	p.Q84R	TXNDC9_uc010yvp.1_Missense_Mutation_p.Q101R|TXNDC9_uc002taa.1_Missense_Mutation_p.Q84R	NM_005783	NP_005774	O14530	TXND9_HUMAN	thioredoxin domain containing 9	84	Thioredoxin.				cell redox homeostasis		protein binding				0						CTTGACTTCTTGAAAAAAGTC	0.373													C	99944055	T	C	99944055	3	2	27	1	0	0	0	0	1	0	0	0	16799	1812	63	3	441	3	TXNDC9	2	99944055	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	165636	99944055	143255318	1078	25029											
NPAS2	4862	broad.mit.edu	37	chr2	101584868	101584868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccaagcccgagttcatcGtgtgcacacactcggtggtc	10	14	1	0	rs143509936		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:101584868G>A	uc002tap.1	+	11	1319	c.1033G>A	c.(1033-1035)GTG>ATG	p.V345M	NPAS2_uc010yvt.1_Missense_Mutation_p.V410M	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	345	PAC.				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4						CGAGTTCATCGTGTGCACACA	0.612													A	101584868	G	A	101584868	3	1	27	1	0	0	0	0	1	0	0	0	10563	1145	40	1	1071	1	NPAS2	2	101584868	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1640813	101584868	141614505	1079	25030											
NPAS2	4862	broad.mit.edu	37	chr2	101591290	101591290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcaagcctggaacctcGgcagcactttaacacactcg	10	14	1	0	rs77601858	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:101591290G>A	uc002tap.1	+	13	1452	c.1166G>A	c.(1165-1167)CGG>CAG	p.R389Q	NPAS2_uc010yvt.1_Missense_Mutation_p.R454Q|NPAS2_uc010fit.1_5'UTR	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	389					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4						CTGGAACCTCGGCAGCACTTT	0.517													A	101591290	G	A	101591290	3	1	27	1	0	0	0	0	1	0	0	0	10563	1116	39	1	1212	1	NPAS2	2	101591290	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	6422	101591290	141608083	1080	25031											
TBC1D8	11138	broad.mit.edu	37	chr2	101656725	101656725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggcgaacatccgccccGtggtgtgacagcgactgaac	13	13	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:101656725G>A	uc010fiv.2	-	6	1081	c.950C>T	c.(949-951)ACG>ATG	p.T317M	TBC1D8_uc010yvw.1_Missense_Mutation_p.T332M|TBC1D8_uc002tau.3_Missense_Mutation_p.T74M	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	317	GRAM 2.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3						CATCCGCCCCGTGGTGTGACA	0.567													A	101656725	G	A	101656725	3	1	27	1	0	0	0	0	1	0	0	0	15622	1145	40	1	2532	1	TBC1D8	2	101656725	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	65435	101656725	141542648	1081	25032											
MAP4K4	9448	broad.mit.edu	37	chr2	102490623	102490623	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggctcagtggtcaatgtgaaTcctaccaacactaggccaca	9	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:102490623T>A	uc002tbg.2	+	23	2770	c.2715T>A	c.(2713-2715)AAT>AAA	p.N905K	MAP4K4_uc002tbc.2_Missense_Mutation_p.N986K|MAP4K4_uc002tbd.2_Missense_Mutation_p.N878K|MAP4K4_uc002tbe.2_Missense_Mutation_p.N824K|MAP4K4_uc002tbf.2_Missense_Mutation_p.N939K|MAP4K4_uc010yvy.1_Missense_Mutation_p.N901K|MAP4K4_uc002tbh.2_Missense_Mutation_p.N823K|MAP4K4_uc002tbi.2_Missense_Mutation_p.N708K|MAP4K4_uc010yvz.1_Missense_Mutation_p.N945K|MAP4K4_uc002tbk.2_Missense_Mutation_p.N360K|MAP4K4_uc002tbl.2_Missense_Mutation_p.N91K	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	905	Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						TCAATGTGAATCCTACCAACA	0.463													A	102490623	T	A	102490623	3	1	27	1	0	0	0	0	1	0	0	0	9262	1432	50	5	3056	5	MAP4K4	2	102490623	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	833898	102490623	140708750	1082	25033											
IL1R1	3554	broad.mit.edu	37	chr2	102781255	102781255	+	Frame_Shift_Del	DEL	A	A	-													taaatgcaaggaacgtgaagAaaaaataattttagtgtcat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:102781255delA	uc002tbq.2	+	4	401	c.83delA	c.(82-84)GAAfs	p.E28fs	IL1R1_uc010fix.2_Frame_Shift_Del_p.E28fs|IL1R1_uc002tbp.2_Frame_Shift_Del_p.E28fs|IL1R1_uc002tbr.2_Frame_Shift_Del_p.E28fs	NM_000877	NP_000868	P14778	IL1R1_HUMAN	interleukin 1 receptor, type I precursor	28	Extracellular (Potential).|Ig-like C2-type 1.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			skin(1)	1					Anakinra(DB00026)	GAACGTGAAGAAAAAATAATT	0.343													-	102781255	A	-	102781255	7	5	27	1	0	1	0	1	0	0	0	0	7658	246	9	0	89	0	IL1R1	2	102781255	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	290632	102781255	140418118	1083	25034											
IL1R1	3554	broad.mit.edu	37	chr2	102781461	102781461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcaggacattactattgcGtggtaaggtaagagaggaat	12	4	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:102781461G>A	uc002tbq.2	+	4	607	c.289G>A	c.(289-291)GTG>ATG	p.V97M	IL1R1_uc010fix.2_Missense_Mutation_p.V97M|IL1R1_uc002tbp.2_Missense_Mutation_p.V97M|IL1R1_uc002tbr.2_Missense_Mutation_p.V97M	NM_000877	NP_000868	P14778	IL1R1_HUMAN	interleukin 1 receptor, type I precursor	97	Extracellular (Potential).|Ig-like C2-type 1.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			skin(1)	1					Anakinra(DB00026)	TTACTATTGCGTGGTAAGGTA	0.373													A	102781461	G	A	102781461	3	1	27	1	0	0	0	0	1	0	0	0	7658	1145	40	1	295	1	IL1R1	2	102781461	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	206	102781461	140417912	1084	25035											
IL1RL2	8808	broad.mit.edu	37	chr2	102842390	102842390	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcttacttgataggagggCttatcgccttggtggctgtg	15	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:102842390C>A	uc002tbs.2	+	9	1150	c.1024C>A	c.(1024-1026)CTT>ATT	p.L342I	IL1RL2_uc002tbt.2_Missense_Mutation_p.L224I	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2 precursor	342	Helical; (Potential).				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			ovary(2)	2						GATAGGAGGGCTTATCGCCTT	0.348													A	102842390	C	A	102842390	3	1	27	1	0	0	0	0	1	0	0	0	7664	797	28	5	1054	5	IL1RL2	2	102842390	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	60929	102842390	140356983	1085	25036											
IL1RL2	8808	broad.mit.edu	37	chr2	102851656	102851656	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagttttggaagacagtgAgataccacatgccgcccaga	10	11	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:102851656A>G	uc002tbs.2	+	11	1723	c.1597A>G	c.(1597-1599)AGA>GGA	p.R533G	IL1RL2_uc002tbt.2_Missense_Mutation_p.R415G	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2 precursor	533	TIR.|Cytoplasmic (Potential).				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			ovary(2)	2						GAAGACAGTGAGATACCACAT	0.567											OREG0014848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	102851656	A	G	102851656	3	3	27	1	0	0	0	0	1	0	0	0	7664	296	11	3	1635	3	IL1RL2	2	102851656	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	9266	102851656	140347717	1086	25037											
IL1RL1	9173	broad.mit.edu	37	chr2	102955465	102955465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttctgaagtttctaccagCtgcagttgctgattctggta	9	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:102955465C>T	uc002tbu.1	+	3	501	c.230C>T	c.(229-231)GCT>GTT	p.A77V	IL1RL1_uc010ywa.1_5'UTR|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Missense_Mutation_p.A77V	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1 isoform 1	77	Extracellular (Potential).|Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			skin(2)|ovary(1)|central_nervous_system(1)	4						TTTCTACCAGCTGCAGTTGCT	0.433													T	102955465	C	T	102955465	3	4	27	1	0	0	0	0	1	0	0	0	7663	797	28	2	236	2	IL1RL1	2	102955465	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	103809	102955465	140243908	1087	25038											
IL1RL1	9173	broad.mit.edu	37	chr2	102968241	102968241	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagtacaggggaccatcAagtggagggaggaccacatt	14	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:102968241A>G	uc002tbu.1	+	11	1802	c.1531A>G	c.(1531-1533)AAG>GAG	p.K511E	IL18R1_uc002tbw.3_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1 isoform 1	511	TIR.|Cytoplasmic (Potential).				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			skin(2)|ovary(1)|central_nervous_system(1)	4						GGGGACCATCAAGTGGAGGGA	0.498													G	102968241	A	G	102968241	3	3	27	1	0	0	0	0	1	0	0	0	7663	131	5	3	1586	3	IL1RL1	2	102968241	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	12776	102968241	140231132	1088	25039											
IL18R1	8809	broad.mit.edu	37	chr2	103010928	103010928	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agagccaatcttacctcctaGatggaaaaacatatgatgct	7	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:103010928G>A	uc002tbw.3	+	10	1262	c.1112_splice	c.e10-1	p.D371_splice	IL18R1_uc010ywc.1_Splice_Site_p.D370_splice|IL18R1_uc010ywd.1_Splice_Site_p.D215_splice|IL18R1_uc010fiy.2_Splice_Site_p.D371_splice	NM_003855	NP_003846	Q13478	IL18R_HUMAN	interleukin 18 receptor 1 precursor						innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			ovary(2)|pancreas(1)	3						TTACCTCCTAGATGGAAAAAC	0.348													A	103010928	G	A	103010928	5	1	27	1	0	0	0	0	0	0	1	0	7647	956	33	4	1145	4	IL18R1	2	103010928	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	42687	103010928	140188445	1089	25040											
IL18RAP	8807	broad.mit.edu	37	chr2	103040692	103040692	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcttgttaatttcctaggAgcccctatgatgtagcctgt	9	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:103040692A>C	uc002tbx.2	+	5	881	c.397A>C	c.(397-399)AGC>CGC	p.S133R	IL18RAP_uc010fiz.2_5'UTR	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	133	Extracellular (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			skin(3)|ovary(2)	5						ATTTCCTAGGAGCCCCTATGA	0.299													C	103040692	A	C	103040692	3	2	27	1	0	0	0	0	1	0	0	0	7648	318	11	5	407	5	IL18RAP	2	103040692	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	29764	103040692	140158681	1090	25041											
SLC9A4	389015	broad.mit.edu	37	chr2	103090419	103090419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactggattatgactatgtGcaaattccttatgaggtcac	9	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:103090419G>A	uc002tbz.3	+	1	658	c.201G>A	c.(199-201)GTG>GTA	p.V67V		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	67	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						ATGACTATGTGCAAATTCCTT	0.413													A	103090419	G	A	103090419	2	1	27	1	0	0	0	0	0	0	0	1	14716	1306	46	2		2	SLC9A4	2	103090419	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	49727	103090419	140108954	1091	25042											
SLC9A4	389015	broad.mit.edu	37	chr2	103121821	103121821	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgctgagcagcgtcagcgaGaccttgatcttcatcttcat	9	11	5	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:103121821G>C	uc002tbz.3	+	4	1546	c.1089G>C	c.(1087-1089)GAG>GAC	p.E363D		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	363	Helical; Name=J/M8; (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						GCGTCAGCGAGACCTTGATCT	0.498													C	103121821	G	C	103121821	3	2	27	1	0	0	0	0	1	0	0	0	14716	933	33	5	1103	5	SLC9A4	2	103121821	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	31402	103121821	140077552	1092	25043											
SLC9A4	389015	broad.mit.edu	37	chr2	103125345	103125345	+	Frame_Shift_Del	DEL	A	A	-													tggtcaggtacctggatgttAaaaaaaccaataaaaaagaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:103125344_103125344TA>T	uc002tbz.4	+	5	1897	c.1440_1440TA>T	c.(1438-1440)gttfs	p.V480fs		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	480					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ACCTGGATGTTAAAAAAACCA	0.353													-	103125345	A	-	103125345	7	5	27	1	0	1	0	1	0	0	0	0	14716	363	13	0	1463	0	SLC9A4	2	103125345	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	3524	103125345	140074028	1093	25044											
SLC9A4	389015	broad.mit.edu	37	chr2	103130670	103130670	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagccatcgagatggtggagActgggatactgagctctaca	13	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:103130670A>G	uc002tbz.3	+	8	2138	c.1681A>G	c.(1681-1683)ACT>GCT	p.T561A		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	561	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						GATGGTGGAGACtgggatact	0.219													G	103130670	A	G	103130670	3	3	27	1	0	0	0	0	1	0	0	0	14716	275	10	3	1711	3	SLC9A4	2	103130670	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	5325	103130670	140068703	1094	25045											
TMEM182	130827	broad.mit.edu	37	chr2	103414435	103414435	+	Frame_Shift_Del	DEL	G	G	-													gccattttctctacaaagctGggggaggctcatatattgct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:103414434_103414434TG>T	uc010fjb.3	+	3	631	c.444_444TG>T	c.(442-444)gctfs	p.A148fs	TMEM182_uc002tcc.4_Frame_Shift_Del_p.A105fs|TMEM182_uc002tcd.4_Frame_Shift_Del_p.A52fs|TMEM182_uc010ywe.2_Non-coding_Transcript	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN	Homo sapiens transmembrane protein 182 (TMEM182), mRNA.	148						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TCTACAAAGCTGGGGGAGGCT	0.473													-	103414435	G	-	103414435	7	5	27	1	0	1	0	1	0	0	0	0	16098	1348	47	0	459	0	TMEM182	2	103414435	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	283765	103414435	139784938	1095	25046											
FHL2	2274	broad.mit.edu	37	chr2	105984137	105984137	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccaattggctgctggcagcGgtggcagatgaagcaggtct	15	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:105984137G>T	uc002tcu.2	-	4	728	c.391C>A	c.(391-393)CGC>AGC	p.R131S	FHL2_uc002tdc.2_Missense_Mutation_p.R17S|FHL2_uc002tdd.2_Missense_Mutation_p.R131S|FHL2_uc002tct.2_Missense_Mutation_p.R17S|FHL2_uc002tcv.2_Missense_Mutation_p.R131S|FHL2_uc002tcw.2_Missense_Mutation_p.R131S|FHL2_uc002tcx.2_Missense_Mutation_p.R131S|FHL2_uc010fje.2_Missense_Mutation_p.R44S|FHL2_uc002tcy.2_Missense_Mutation_p.R131S|FHL2_uc002tcz.2_Missense_Mutation_p.R241S|FHL2_uc002tda.2_RNA|FHL2_uc002tdb.2_Missense_Mutation_p.R247S	NM_201557	NP_963851	Q14192	FHL2_HUMAN	four and a half LIM domains 2	131	LIM zinc-binding 2.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			ovary(1)	1						TGCTGGCAGCGGTGGCAGATG	0.507													T	105984137	G	T	105984137	3	4	27	1	0	0	0	0	1	0	0	0	5879	1116	39	5	460	5	FHL2	2	105984137	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2569702	105984137	137215236	1096	25047											
C2orf40	84417	broad.mit.edu	37	chr2	106690348	106690348	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgatgatttcagcacctgTtccaactaagactaaagtgg	8	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:106690348T>C	uc010fjf.2	+	3	242	c.134T>C	c.(133-135)GTT>GCT	p.V45A		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	esophageal cancer related gene 4 protein	45						extracellular region|transport vesicle					0						TCAGCACCTGTTCCAACTAAG	0.522													C	106690348	T	C	106690348	3	2	27	1	0	0	0	0	1	0	0	0	2165	1725	60	3	144	3	C2orf40	2	106690348	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	706211	106690348	136509025	1097	25048											
C2orf40	84417	broad.mit.edu	37	chr2	106694242	106694242	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttgaagatgacatcaccTattggcttaacagagatcga	8	7	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:106694242T>G	uc010fjf.2	+	4	415	c.307T>G	c.(307-309)TAT>GAT	p.Y103D		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	esophageal cancer related gene 4 protein	103						extracellular region|transport vesicle					0						TGACATCACCTATTGGCTTAA	0.433													G	106694242	T	G	106694242	3	3	27	1	0	0	0	0	1	0	0	0	2165	1522	53	5	321	5	C2orf40	2	106694242	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3894	106694242	136505131	1098	25049											
RANBP2	5903	broad.mit.edu	37	chr2	109371632	109371632	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttatttttatttttttttagTattctcccaaaacaccacct	1	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:109371632T>A	uc002tem.3	+	17	2509	c.2383T>A	c.(2383-2385)TAT>AAT	p.Y795N		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	795					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TTTTTTTTAGTATTCTCCCAA	0.318													A	109371632	T	A	109371632	3	1	27	1	0	0	0	0	1	0	0	0	13028	1652	57	5	2449	5	RANBP2	2	109371632	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2677390	109371632	133827741	1099	25050											
RANBP2	5903	broad.mit.edu	37	chr2	109379876	109379876	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcgcccaggggtgatgatTactttaattacaatgttcaa	8	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:109379876T>C	uc002tem.3	+	20	3007	c.2881T>C	c.(2881-2883)TAC>CAC	p.Y961H		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	961					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						GGGTGATGATTACTTTAATTA	0.448													C	109379876	T	C	109379876	3	2	27	1	0	0	0	0	1	0	0	0	13028	1754	61	3	2959	3	RANBP2	2	109379876	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	8244	109379876	133819497	1100	25051											
RANBP2	5903	broad.mit.edu	37	chr2	109380767	109380767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatgaaattgacaccaaatGctggatcagacagatctttt	7	7	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:109380767G>A	uc002tem.3	+	20	3898	c.3772G>A	c.(3772-3774)GCT>ACT	p.A1258T		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1258	RanBD1 1.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						GACACCAAATGCTGGATCAGA	0.388													A	109380767	G	A	109380767	3	1	27	1	0	0	0	0	1	0	0	0	13028	1319	46	2	3850	2	RANBP2	2	109380767	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	891	109380767	133818606	1101	25052											
RANBP2	5903	broad.mit.edu	37	chr2	109380996	109380996	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtcatgataacaaggataTttgcaaatctgatgctggaa	9	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:109380996T>C	uc002tem.3	+	20	4127	c.4001T>C	c.(4000-4002)ATT>ACT	p.I1334T		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1334					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						AACAAGGATATTTGCAAATCT	0.408													C	109380996	T	C	109380996	3	2	27	1	0	0	0	0	1	0	0	0	13028	1493	52	3	4079	3	RANBP2	2	109380996	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	229	109380996	133818377	1102	25053											
CCDC138	165055	broad.mit.edu	37	chr2	109421455	109421455	+	Frame_Shift_Del	DEL	A	A	-													aaagaattgaatgataccttAaaaaaacaggtaagacctgt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:109421454_109421454TA>T	uc002ten.1	+	6	905	c.845_845TA>T	c.(844-846)ttafs	p.L282fs	CCDC138_uc002teo.1_Frame_Shift_Del_p.L282fs|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	NM_144978	NP_659415	Q96M89	CC138_HUMAN	Homo sapiens coiled-coil domain containing 138 (CCDC138), mRNA.	282										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						AATGATACCTTAAAAAAACAG	0.303													-	109421455	A	-	109421455	7	5	27	1	0	1	0	1	0	0	0	0	2772	359	13	0	872	0	CCDC138	2	109421455	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	40459	109421455	133777918	1103	25054											
EDAR	10913	broad.mit.edu	37	chr2	109526978	109526978	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcatccttctcggagaacatCaccacgttgtctgcagggaa	9	12	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:109526978C>T	uc002teq.3	-	9	1172	c.741G>A	c.(739-741)GTG>GTA	p.V247V	EDAR_uc010fjn.2_Silent_p.V279V|EDAR_uc010yws.1_Silent_p.V279V	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	247	Cytoplasmic (Potential).				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1						CGGAGAACATCACCACGTTGT	0.552													T	109526978	C	T	109526978	2	4	27	1	0	0	0	0	0	0	0	1	4905	813	29	4		4	EDAR	2	109526978	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	105523	109526978	133672395	1104	25055											
ANKRD57	65124	broad.mit.edu	37	chr2	110373498	110373498	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactcaacaaaatccgattcAgaacccagatcgtccacacc	5	15	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:110373498A>G	uc002tfb.2	+	1	1588	c.1432A>G	c.(1432-1434)AGA>GGA	p.R478G	SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank	NM_023016	NP_075392	Q53LP3	ANR57_HUMAN	ankyrin repeat domain 57	478											0						AATCCGATTCAGAACCCAGAT	0.602													G	110373498	A	G	110373498	3	3	27	1	0	0	0	0	1	0	0	0	683	180	7	3	1434	3	ANKRD57	2	110373498	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	846520	110373498	132825875	1105	25056											
MERTK	10461	broad.mit.edu	37	chr2	112751930	112751930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattgcagccgtcaccagaGggggagttgggcccttcagt	16	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:112751930G>A	uc002thk.1	+	9	1521	c.1399G>A	c.(1399-1401)GGG>AGG	p.G467R	MERTK_uc002thl.1_Missense_Mutation_p.G291R	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	467	Fibronectin type-III 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						CGTCACCAGAGGGGGAGTTGG	0.537													A	112751930	G	A	112751930	3	1	27	1	0	0	0	0	1	0	0	0	9479	1000	35	4	1433	4	MERTK	2	112751930	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2378432	112751930	130447443	1106	25057											
ZC3H6	376940	broad.mit.edu	37	chr2	113089388	113089388	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctaaattaggagatcctagaCtacaaaaaaattttgatcct	5	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:113089388C>G	uc002thq.1	+	12	3287	c.2893C>G	c.(2893-2895)CTA>GTA	p.L965V		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	965							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4						AGATCCTAGACTACAAAAAAA	0.418													G	113089388	C	G	113089388	3	3	27	1	0	0	0	0	1	0	0	0	17568	564	20	5	2939	5	ZC3H6	2	113089388	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	337458	113089388	130109985	1107	25058											
ZC3H6	376940	broad.mit.edu	37	chr2	113090015	113090015	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagaaacagatgacaaatctCtgaaagaggtttttaaaact	8	5	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:113090015C>T	uc002thq.1	+	12	3914	c.3520C>T	c.(3520-3522)CTG>TTG	p.L1174L		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	1174							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4						TGACAAATCTCTGAAAGAGGT	0.443													T	113090015	C	T	113090015	2	4	27	1	0	0	0	0	0	0	0	1	17568	912	32	4		4	ZC3H6	2	113090015	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	627	113090015	130109358	1108	25059											
TTL	150465	broad.mit.edu	37	chr2	113243546	113243546	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactacaggggtgctgacaaActgtgtcgcaaagcttcttt	10	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:113243546A>G	uc002thu.2	+	2	389	c.210A>G	c.(208-210)AAA>AAG	p.K70K		NM_153712	NP_714923	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	70	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		GTGCTGACAAACTGTGTCGCA	0.458			T	ETV6	ALL								G	113243546	A	G	113243546	2	3	27	1	0	0	0	0	0	0	0	1	16718	40	2	3		3	TTL	2	113243546	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	153531	113243546	129955827	1109	25060											
POLR1B	84172	broad.mit.edu	37	chr2	113315607	113315607	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacaatgggcatagaccttAcaaaaccatttgaatacctt	5	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:113315607A>G	uc002thw.2	+	8	1859	c.1279A>G	c.(1279-1281)ACA>GCA	p.T427A	POLR1B_uc010fkn.2_Missense_Mutation_p.T371A|POLR1B_uc002thx.2_Missense_Mutation_p.T288A|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Missense_Mutation_p.T465A|POLR1B_uc002thy.2_Missense_Mutation_p.T288A|POLR1B_uc010yxo.1_Missense_Mutation_p.T204A	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	427					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1						CATAGACCTTACAAAACCATT	0.328													G	113315607	A	G	113315607	3	3	27	1	0	0	0	0	1	0	0	0	12210	391	14	3	1309	3	POLR1B	2	113315607	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	72061	113315607	129883766	1110	25061											
POLR1B	84172	broad.mit.edu	37	chr2	113332742	113332742	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctgccatgatgctacAcccttcatcttctcagagga	8	13	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:113332742A>G	uc002thw.2	+	15	3424	c.2844A>G	c.(2842-2844)ACA>ACG	p.T948T	POLR1B_uc010fkn.2_Silent_p.T892T|POLR1B_uc002thx.2_Silent_p.T809T|POLR1B_uc010fko.2_Silent_p.T765T|POLR1B_uc010fkp.2_Silent_p.T387T|POLR1B_uc010yxn.1_Silent_p.T986T|POLR1B_uc002thy.2_Silent_p.T809T|POLR1B_uc010yxo.1_Silent_p.T725T	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	948					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1						ATGATGCTACACCCTTCATCT	0.473													G	113332742	A	G	113332742	2	3	27	1	0	0	0	0	0	0	0	1	12210	146	6	3		3	POLR1B	2	113332742	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	17135	113332742	129866631	1111	25062											
CKAP2L	150468	broad.mit.edu	37	chr2	113498582	113498582	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aactaaagagtcagaagtaaTccctgtgtatgtaagatcat	8	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:113498582T>A	uc002tie.2	-	8	1904	c.1825A>T	c.(1825-1827)ATT>TTT	p.I609F	CKAP2L_uc002tif.2_Missense_Mutation_p.I198F|CKAP2L_uc010yxp.1_Missense_Mutation_p.I444F|uc002tid.2_Intron	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	609						centrosome					0						TCAGAAGTAATCCCTGTGTAT	0.348													A	113498582	T	A	113498582	3	1	27	1	0	0	0	0	1	0	0	0	3443	1435	50	5	420	5	CKAP2L	2	113498582	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	165840	113498582	129700791	1112	25063											
CKAP2L	150468	broad.mit.edu	37	chr2	113513703	113513703	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacttggagtccaaagtctgTgctttttgctgaaagccatt	9	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:113513703T>C	uc002tie.2	-	4	1324	c.1245A>G	c.(1243-1245)GCA>GCG	p.A415A	CKAP2L_uc002tif.2_Silent_p.A4A|CKAP2L_uc010yxp.1_Silent_p.A250A|CKAP2L_uc010yxq.1_Silent_p.A250A	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	415						centrosome					0						CCAAAGTCTGTGCTTTTTGCT	0.423													C	113513703	T	C	113513703	2	2	27	1	0	0	0	0	0	0	0	1	3443	1683	59	3		3	CKAP2L	2	113513703	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	15121	113513703	129685670	1113	25064											
IL1RN	3557	broad.mit.edu	37	chr2	113890392	113890392	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagcccgtcagcctcaccAatatgcctgacgaaggcgtc	9	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:113890392A>G	uc002tjb.2	+	4	542	c.478A>G	c.(478-480)AAT>GAT	p.N160D	IL1RN_uc002tix.1_RNA|IL1RN_uc002tiy.2_Missense_Mutation_p.N126D|IL1RN_uc002tiz.2_Missense_Mutation_p.N163D|IL1RN_uc002tja.2_Missense_Mutation_p.N142D	NM_173842	NP_776214	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist isoform 1	160					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			skin(2)	2					Anakinra(DB00026)	CAGCCTCACCAATATGCCTGA	0.587									Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				G	113890392	A	G	113890392	3	3	27	1	0	0	0	0	1	0	0	0	7665	130	5	3	573	3	IL1RN	2	113890392	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	376689	113890392	129308981	1114	25065											
CBWD2	150472	broad.mit.edu	37	chr2	114195463	114195463	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgttaccggctgttggAtctgcggatgaggaggagga	18	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:114195463A>T	uc002tju.2	+	1	196	c.18A>T	c.(16-18)GGA>GGT	p.G6G	CBWD2_uc002tjt.2_Silent_p.G6G|CBWD2_uc010yxw.1_5'UTR|CBWD2_uc002tjv.2_5'UTR|CBWD2_uc010fkv.2_RNA	NM_172003	NP_742000	Q8IUF1	CBWD2_HUMAN	COBW domain-containing protein 2	6							ATP binding|protein binding				0						CGGCTGTTGGATCTGCGGATG	0.627													T	114195463	A	T	114195463	2	4	27	1	0	0	0	0	0	0	0	1	2713	320	12	5		5	CBWD2	2	114195463	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	305071	114195463	129003910	1115	25066											
FOXD4L1	200350	broad.mit.edu	37	chr2	114257141	114257141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggcctctgaagatgcccGgcagccggcaaagcccccct	13	17	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:114257141G>A	uc002tjw.3	+	1	481	c.308G>A	c.(307-309)CGG>CAG	p.R103Q		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	103					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						GAAGATGCCCGGCAGCCGGCA	0.677													A	114257141	G	A	114257141	3	1	27	1	0	0	0	0	1	0	0	0	6000	1116	39	1	310	1	FOXD4L1	2	114257141	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	61678	114257141	128942232	1116	25067											
FOXD4L1	200350	broad.mit.edu	37	chr2	114257505	114257505	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccctctacctgctgcacaCgccgccctgcacaacccccg	6	22	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:114257505C>T	uc002tjw.3	+	1	845	c.672C>T	c.(670-672)CAC>CAT	p.H224H		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	224	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						CTGCTGCACACGCCGCCCTGC	0.711													T	114257505	C	T	114257505	2	4	27	1	0	0	0	0	0	0	0	1	6000	535	19	1		1	FOXD4L1	2	114257505	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	364	114257505	128941868	1117	25068											
FOXD4L1	200350	broad.mit.edu	37	chr2	114257596	114257596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaccccaacaccgcccccGggagacgcccttacgctctg	8	21	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:114257596G>A	uc002tjw.3	+	1	936	c.763G>A	c.(763-765)GGG>AGG	p.G255R		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	255	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						CACCGCCCCCGGGAGACGCCC	0.721													A	114257596	G	A	114257596	3	1	27	1	0	0	0	0	1	0	0	0	6000	1116	39	1	765	1	FOXD4L1	2	114257596	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	91	114257596	128941777	1118	25069											
FOXD4L1	200350	broad.mit.edu	37	chr2	114257625	114257625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttacgctctgctgcacccGcatcctcctcgctacctact	5	20	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:114257625G>A	uc002tjw.3	+	1	965	c.792G>A	c.(790-792)CCG>CCA	p.P264P		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	264	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						TGCTGCACCCGCATCCTCCTC	0.731													A	114257625	G	A	114257625	2	1	27	1	0	0	0	0	0	0	0	1	6000	1074	38	1		1	FOXD4L1	2	114257625	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	29	114257625	128941748	1119	25070											
DDX18	8886	broad.mit.edu	37	chr2	118586952	118586952	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tacgagcctatgattcccatTctctgaaacagatctttaat	5	10	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:118586952T>A	uc002tlh.1	+	13	1879	c.1780T>A	c.(1780-1782)TCT>ACT	p.S594T		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	594							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4						TGATTCCCATTCTCTGAAACA	0.368													A	118586952	T	A	118586952	3	1	27	1	0	0	0	0	1	0	0	0	4345	1783	62	5	1830	5	DDX18	2	118586952	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4329327	118586952	124612421	1120	25071											
DDX18	8886	broad.mit.edu	37	chr2	118588280	118588280	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagcaagaaatcatctgacAgcaggcagttctctcactga	8	10	4	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:118588280A>G	uc002tlh.1	+	14	2092	c.1993A>G	c.(1993-1995)AGC>GGC	p.S665G		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	665							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4						ATCATCTGACAGCAGGCAGTT	0.378													G	118588280	A	G	118588280	3	3	27	1	0	0	0	0	1	0	0	0	4345	188	7	3	2047	3	DDX18	2	118588280	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1328	118588280	124611093	1121	25072											
CCDC93	54520	broad.mit.edu	37	chr2	118766233	118766233	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcttctcttgtttccAcctaaaataaaaggtaaaac	3	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:118766233A>G	uc002tlj.2	-	2	170	c.44T>C	c.(43-45)GTG>GCG	p.V15A	CCDC93_uc010fld.1_Missense_Mutation_p.V15A	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	15										large_intestine(1)|ovary(1)	2						TCTTGTTTCCACCTAAAATAA	0.398											OREG0003819	type=REGULATORY REGION|Gene=AK025611|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G	118766233	A	G	118766233	3	3	27	1	0	0	0	0	1	0	0	0	2872	173	6	3	1943	3	CCDC93	2	118766233	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	177953	118766233	124433140	1122	25073											
INSIG2	51141	broad.mit.edu	37	chr2	118854319	118854319	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgctctttccacctgatgtgAttgcaagcatcttttcttct	6	12	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:118854319A>T	uc002tlk.2	+	2	393	c.187A>T	c.(187-189)ATT>TTT	p.I63F	INSIG2_uc010yye.1_Intron	NM_016133	NP_057217	Q9Y5U4	INSI2_HUMAN	insulin induced protein 2	63					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				ovary(1)|central_nervous_system(1)	2						ACCTGATGTGATTGCAAGCAT	0.413													T	118854319	A	T	118854319	3	4	27	1	0	0	0	0	1	0	0	0	7766	333	12	5	189	5	INSIG2	2	118854319	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	88086	118854319	124345054	1123	25074											
STEAP3	55240	broad.mit.edu	37	chr2	120012365	120012365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgttgtccctgctggccGtgacctcactgccgtccatt	10	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:120012365G>A	uc002tlp.2	+	5	1283	c.1126G>A	c.(1126-1128)GTG>ATG	p.V376M	STEAP3_uc002tlq.2_Missense_Mutation_p.V386M|STEAP3_uc002tlr.2_Missense_Mutation_p.V376M|STEAP3_uc010fle.2_Missense_Mutation_p.V376M	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	376	Ferric oxidoreductase.|Helical; (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			central_nervous_system(2)|skin(1)	3						CCTGCTGGCCGTGACCTCACT	0.607													A	120012365	G	A	120012365	3	1	27	1	0	0	0	0	1	0	0	0	15278	1145	40	1	1170	1	STEAP3	2	120012365	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1158046	120012365	123187008	1124	25075											
TMEM37	140738	broad.mit.edu	37	chr2	120194588	120194588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtctccatttgtgatgggCactggctcctggctgaggac	14	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:120194588C>T	uc002tly.2	+	2	179	c.145C>T	c.(145-147)CAC>TAC	p.H49Y		NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	49						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)	1						TTGTGATGGGCACTGGCTCCT	0.622													T	120194588	C	T	120194588	3	4	27	1	0	0	0	0	1	0	0	0	16155	710	25	2	151	2	TMEM37	2	120194588	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	182223	120194588	123004785	1125	25076											
EPB41L5	57669	broad.mit.edu	37	chr2	120922422	120922422	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttccataggaagctacagAtgaattggatgccttgcttg	10	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:120922422A>C	uc002tmg.2	+	22	2024	c.1898A>C	c.(1897-1899)GAT>GCT	p.D633A	EPB41L5_uc010fll.2_Missense_Mutation_p.D633A|EPB41L5_uc010flm.2_Missense_Mutation_p.D437A	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	633						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1						GAAGCTACAGATGAATTGGAT	0.338													C	120922422	A	C	120922422	3	2	27	1	0	0	0	0	1	0	0	0	5157	333	12	5	2165	5	EPB41L5	2	120922422	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	727834	120922422	122276951	1126	25077											
INHBB	3625	broad.mit.edu	37	chr2	121104185	121104185	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgacggccaggagcgcgttTccgaaatcatcagcttcgcc	11	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:121104185T>C	uc002tmn.2	+	1	467	c.421T>C	c.(421-423)TCC>CCC	p.S141P		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	141					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)				GGAGCGCGTTTCCGAAATCAT	0.731													C	121104185	T	C	121104185	3	2	27	1	0	0	0	0	1	0	0	0	7742	1783	62	3	423	3	INHBB	2	121104185	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	181763	121104185	122095188	1127	25078											
INHBB	3625	broad.mit.edu	37	chr2	121106966	121106966	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggggcgagcggcgactcaAcctagacgtgcagtgtgaca	16	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:121106966A>G	uc002tmn.2	+	2	786	c.740A>G	c.(739-741)AAC>AGC	p.N247S		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	247					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)				CGGCGACTCAACCTAGACGTG	0.647													G	121106966	A	G	121106966	3	3	27	1	0	0	0	0	1	0	0	0	7742	43	2	3	746	3	INHBB	2	121106966	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2781	121106966	122092407	1128	25079											
GLI2	2736	broad.mit.edu	37	chr2	121712859	121712859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagaggggactgtttggcCttcctgctccaggcaccacc	13	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:121712859C>T	uc010flp.2	+	4	526	c.496C>T	c.(496-498)CTT>TTT	p.L166F	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_Missense_Mutation_p.L41F|GLI2_uc002tmw.1_Missense_Mutation_p.L166F	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	166					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				ACTGTTTGGCCTTCCTGCTCC	0.642													T	121712859	C	T	121712859	3	4	27	1	0	0	0	0	1	0	0	0	6438	681	24	4	510	4	GLI2	2	121712859	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	605893	121712859	121486514	1129	25080											
CLASP1	23332	broad.mit.edu	37	chr2	122215273	122215273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaatttaccttctaactgCgacagacttagaggtacagt	7	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:122215273C>T	uc002tnc.2	-	14	1765	c.1375G>A	c.(1375-1377)GCA>ACA	p.A459T	CLASP1_uc002tna.2_5'UTR|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.A459T|CLASP1_uc010yza.1_Missense_Mutation_p.A459T|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Missense_Mutation_p.A459T	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	459	HEAT 4.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)					CTTCTAACTGCGACAGACTTA	0.338													T	122215273	C	T	122215273	3	4	27	1	0	0	0	0	1	0	0	0	3454	768	27	1	3401	1	CLASP1	2	122215273	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	502414	122215273	120984100	1130	25081											
CNTNAP5	129684	broad.mit.edu	37	chr2	125367380	125367380	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctttgtctttccagccAtctacgagcaatcctgcgag	8	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:125367380A>T	uc002tno.2	+	12	2120	c.1756A>T	c.(1756-1758)ATC>TTC	p.I586F	CNTNAP5_uc010flu.2_Missense_Mutation_p.I587F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	586	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTTCCAGCCATCTACGAGCA	0.502													T	125367380	A	T	125367380	3	4	27	1	0	0	0	0	1	0	0	0	3650	217	8	5	1802	5	CNTNAP5	2	125367380	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3152107	125367380	117831993	1131	25082											
CNTNAP5	129684	broad.mit.edu	37	chr2	125367427	125367427	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaccaggggaatacagcCggcttcttctacatcgactc	10	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:125367427C>T	uc002tno.2	+	12	2167	c.1803C>T	c.(1801-1803)GCC>GCT	p.A601A	CNTNAP5_uc010flu.2_Silent_p.A602A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	601	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGAATACAGCCGGCTTCTTCT	0.527													T	125367427	C	T	125367427	2	4	27	1	0	0	0	0	0	0	0	1	3650	639	23	1		1	CNTNAP5	2	125367427	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	47	125367427	117831946	1132	25083											
CNTNAP5	129684	broad.mit.edu	37	chr2	125530570	125530570	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagggccattttcgactgCagctgaacagccagttgttt	12	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:125530570C>T	uc002tno.2	+	17	3089	c.2725C>T	c.(2725-2727)CAG>TAG	p.Q909*	CNTNAP5_uc010flu.2_Nonsense_Mutation_p.Q910*	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	909	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTTTCGACTGCAGCTGAACAG	0.527													T	125530570	C	T	125530570	4	4	27	1	0	0	0	0	0	1	0	0	3650	711	25	2	2791	2	CNTNAP5	2	125530570	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	163143	125530570	117668803	1133	25084											
IWS1	55677	broad.mit.edu	37	chr2	128253655	128253655	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aaggtgccaccatcgcggttCcgtctgcgcttgccactcat	10	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:128253655C>G	uc002ton.2	-	7	1938	c.1635G>C	c.(1633-1635)CGG>CGC	p.R545R	IWS1_uc010yzl.1_RNA	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	545					transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CATCGCGGTTCCGTCTGCGCT	0.468													G	128253655	C	G	128253655	2	3	27	1	0	0	0	0	0	0	0	1	7931	842	30	5		5	IWS1	2	128253655	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2723085	128253655	114945718	1134	25085											
LIMS2	55679	broad.mit.edu	37	chr2	128397687	128397687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggagcaggagaagcagCtcacacaccaggccttgttg	14	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:128397687C>T	uc002tpa.2	-	9	1002	c.836G>A	c.(835-837)AGC>AAC	p.S279N	LIMS2_uc002tou.2_Missense_Mutation_p.S87N|LIMS2_uc002tov.2_Missense_Mutation_p.S127N|LIMS2_uc002tow.2_Missense_Mutation_p.S127N|LIMS2_uc002tox.2_Missense_Mutation_p.S303N|LIMS2_uc010fmb.2_Missense_Mutation_p.S189N|LIMS2_uc002toy.2_Missense_Mutation_p.S274N|LIMS2_uc010yzm.1_Missense_Mutation_p.S301N|LIMS2_uc002toz.2_Missense_Mutation_p.S274N|LIMS2_uc002tpb.2_Missense_Mutation_p.S274N	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	279	LIM zinc-binding 5.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		GGAGAAGCAGCTCACACACCA	0.647													T	128397687	C	T	128397687	3	4	27	1	0	0	0	0	1	0	0	0	8804	797	28	2	197	2	LIMS2	2	128397687	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	144032	128397687	114801686	1135	25086											
LIMS2	55679	broad.mit.edu	37	chr2	128412420	128412420	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaccgcaggatccacagcaCggagcaaacagcatttggaa	10	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:128412420C>T	uc002tpa.2	-	3	388	c.222G>A	c.(220-222)CCG>CCA	p.P74P	LIMS2_uc002tox.2_Silent_p.P98P|LIMS2_uc010fmb.2_Translation_Start_Site|LIMS2_uc002toy.2_Silent_p.P69P|LIMS2_uc010yzm.1_Silent_p.P96P|LIMS2_uc002toz.2_Silent_p.P69P|LIMS2_uc002tpb.2_Silent_p.P69P	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	74	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		ATCCACAGCACGGAGCAAACA	0.602													T	128412420	C	T	128412420	2	4	27	1	0	0	0	0	0	0	0	1	8804	523	19	1		1	LIMS2	2	128412420	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	14733	128412420	114786953	1136	25087											
WDR33	55339	broad.mit.edu	37	chr2	128471327	128471327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcccagggccccctcgCctccacttctcttcttgcgg	11	18	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:128471327C>T	uc002tpg.1	-	18	3321	c.3138G>A	c.(3136-3138)AGG>AGA	p.R1046R		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	1046					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGCCCCCTCGCCTCCACTTCT	0.642													T	128471327	C	T	128471327	2	4	27	1	0	0	0	0	0	0	0	1	17284	738	26	2		2	WDR33	2	128471327	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	58907	128471327	114728046	1137	25088											
SAP130	79595	broad.mit.edu	37	chr2	128767876	128767876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtagcatgcgccgctgtcGtagtgatgactggagactga	14	9	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:128767876G>A	uc002tpp.2	-	7	1046	c.914C>T	c.(913-915)ACG>ATG	p.T305M	SAP130_uc002tpn.2_Missense_Mutation_p.T66M|SAP130_uc002tpo.2_Missense_Mutation_p.T50M|SAP130_uc010fmd.2_Missense_Mutation_p.T305M|SAP130_uc002tpq.1_Missense_Mutation_p.T279M	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	305					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CGCCGCTGTCGTAGTGATGAC	0.512													A	128767876	G	A	128767876	3	1	27	1	0	0	0	0	1	0	0	0	13831	1145	40	1	2397	1	SAP130	2	128767876	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	296549	128767876	114431497	1138	25089											
UGGT1	56886	broad.mit.edu	37	chr2	128930248	128930248	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatatgcctcagtctccacTgttcactctgaatttgaaca	7	11	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:128930248T>C	uc002tps.2	+	29	3384	c.3206T>C	c.(3205-3207)CTG>CCG	p.L1069P	UGGT1_uc002tpr.2_Missense_Mutation_p.L1045P	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	1069					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1						CAGTCTCCACTGTTCACTCTG	0.368													C	128930248	T	C	128930248	3	2	27	1	0	0	0	0	1	0	0	0	16938	1580	55	3	3320	3	UGGT1	2	128930248	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	162372	128930248	114269125	1139	25090											
FAM123C	205147	broad.mit.edu	37	chr2	131520350	131520350	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctgcagggccctgtgTgaggacgtggcctcactcca	14	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:131520350T>G	uc002trw.2	+	2	895	c.705T>G	c.(703-705)TGT>TGG	p.C235W	FAM123C_uc010fmv.2_Missense_Mutation_p.C235W|FAM123C_uc010fms.1_Missense_Mutation_p.C235W|FAM123C_uc010fmt.1_Missense_Mutation_p.C235W|FAM123C_uc010fmu.1_Missense_Mutation_p.C235W	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	235										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GGGCCCTGTGTGAGGACGTGG	0.662													G	131520350	T	G	131520350	3	3	27	1	0	0	0	0	1	0	0	0	5424	1702	59	5	707	5	FAM123C	2	131520350	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2590102	131520350	111679023	1140	25091											
GPR39	2863	broad.mit.edu	37	chr2	133174728	133174728	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacccttattctggtgtaccTgatcatcttcgtgatgggcc	9	12	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:133174728T>C	uc002ttl.2	+	1	582	c.113T>C	c.(112-114)CTG>CCG	p.L38P		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	38	Helical; Name=1; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						CTGGTGTACCTGATCATCTTC	0.542													C	133174728	T	C	133174728	3	2	27	1	0	0	0	0	1	0	0	0	6693	1580	55	3	115	3	GPR39	2	133174728	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1654378	133174728	110024645	1141	25092											
MGAT5	4249	broad.mit.edu	37	chr2	135095865	135095865	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattttaatattctctacagTatgatgaaaaagcatgaaga	7	4	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:135095865T>C	uc002ttv.1	+	6	826	c.681T>C	c.(679-681)AGT>AGC	p.S227S		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	227	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TTCTCTACAGTATGATGAAAA	0.383													C	135095865	T	C	135095865	2	2	27	1	0	0	0	0	0	0	0	1	9548	1635	57	3		3	MGAT5	2	135095865	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1921137	135095865	108103508	1142	25093											
CCNT2	905	broad.mit.edu	37	chr2	135711759	135711759	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccacaagcattcccactcGcatagtggcagcagcagcgg	11	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:135711759G>A	uc002tuc.1	+	9	1766	c.1734G>A	c.(1732-1734)TCG>TCA	p.S578S	CCNT2_uc002tub.1_Silent_p.S578S|CCNT2_uc010zbf.1_Silent_p.S403S|CCNT2_uc002tud.1_Silent_p.S241S	NM_058241	NP_490595	O60583	CCNT2_HUMAN	cyclin T2 isoform b	578					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			ovary(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.107)		ATTCCCACTCGCATAGTGGCA	0.542													A	135711759	G	A	135711759	2	1	27	1	0	0	0	0	0	0	0	1	2935	1074	38	1		1	CCNT2	2	135711759	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	615894	135711759	107487614	1143	25094											
R3HDM1	23518	broad.mit.edu	37	chr2	136389319	136389319	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgctgctgaaattggaacaaGaaattttagatttcattggt	9	4	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:136389319G>T	uc002tuo.2	+	8	899	c.529G>T	c.(529-531)GAA>TAA	p.E177*	R3HDM1_uc010fni.2_Nonsense_Mutation_p.E175*|R3HDM1_uc002tup.2_Nonsense_Mutation_p.E121*|R3HDM1_uc010zbh.1_Nonsense_Mutation_p.E9*	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	177	R3H.						nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		ATTGGAACAAGAAATTTTAGA	0.328													T	136389319	G	T	136389319	4	4	27	1	0	0	0	0	0	1	0	0	12887	943	33	5	551	5	R3HDM1	2	136389319	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	677560	136389319	106810054	1144	25095											
R3HDM1	23518	broad.mit.edu	37	chr2	136396677	136396677	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcagcaaaagcataggcAggctttcaaaaacaggtata	10	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:136396677A>G	uc002tuo.2	+	14	1574	c.1204A>G	c.(1204-1206)AGG>GGG	p.R402G	R3HDM1_uc010fni.2_Missense_Mutation_p.R400G|R3HDM1_uc002tup.2_Missense_Mutation_p.R346G|R3HDM1_uc010zbh.1_Missense_Mutation_p.R234G	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	402							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		AAGCATAGGCAGGCTTTCAAA	0.413													G	136396677	A	G	136396677	3	3	27	1	0	0	0	0	1	0	0	0	12887	179	7	3	1250	3	R3HDM1	2	136396677	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	7358	136396677	106802696	1145	25096											
R3HDM1	23518	broad.mit.edu	37	chr2	136437848	136437848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgcccacaacaggaatgCctgtttactatagtgtcatt	7	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:136437848C>T	uc002tuo.2	+	20	2678	c.2308C>T	c.(2308-2310)CCT>TCT	p.P770S	R3HDM1_uc010fni.2_Missense_Mutation_p.P769S|R3HDM1_uc002tup.2_Missense_Mutation_p.P715S|R3HDM1_uc010zbh.1_Missense_Mutation_p.P518S	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	770							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		AACAGGAATGCCTGTTTACTA	0.408													T	136437848	C	T	136437848	3	4	27	1	0	0	0	0	1	0	0	0	12887	739	26	2	2378	2	R3HDM1	2	136437848	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	41171	136437848	106761525	1146	25097											
MCM6	4175	broad.mit.edu	37	chr2	136622715	136622715	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgtctgttcctcatctcTgagctctttccccccaaact	5	16	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:136622715T>C	uc002tuw.2	-	7	1022	c.946A>G	c.(946-948)AGA>GGA	p.R316G		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	316					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TCCTCATCTCTGAGCTCTTTC	0.373													C	136622715	T	C	136622715	3	2	27	1	0	0	0	0	1	0	0	0	9391	1588	55	3	1563	3	MCM6	2	136622715	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	184867	136622715	106576658	1147	25098											
SPOPL	339745	broad.mit.edu	37	chr2	139308136	139308136	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgggtgaagtgttaaaaagTtcaacattttcatctggccc	9	7	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:139308136T>C	uc002tvh.2	+	3	562	c.162T>C	c.(160-162)AGT>AGC	p.S54S		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	54	MATH.					nucleus				skin(2)|breast(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0296)		TGTTAAAAAGTTCAACATTTT	0.313													C	139308136	T	C	139308136	2	2	27	1	0	0	0	0	0	0	0	1	15084	1722	60	3		3	SPOPL	2	139308136	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2685421	139308136	103891237	1148	25099											
NXPH2	11249	broad.mit.edu	37	chr2	139429149	139429149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatccttgagtgcaccacGttgccgaccaacgtccctgg	10	14	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:139429149G>A	uc002tvi.2	-	2	138	c.138C>T	c.(136-138)AAC>AAT	p.N46N		NM_007226	NP_009157	O95156	NXPH2_HUMAN	neurexophilin 2 precursor	46	II.				neuropeptide signaling pathway	extracellular region				ovary(3)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(221;0.101)		AGTGCACCACGTTGCCGACCA	0.542													A	139429149	G	A	139429149	2	1	27	1	0	0	0	0	0	0	0	1	10791	1136	40	1		1	NXPH2	2	139429149	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	121013	139429149	103770224	1149	25100											
LRP1B	53353	broad.mit.edu	37	chr2	140990805	140990805	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tattttctttggaagcagttCtttcctttcatcaacacttc	4	10	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:140990805C>A	uc002tvj.1	-	91	14722	c.13750G>T	c.(13750-13752)GAA>TAA	p.E4584*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4584	Cytoplasmic (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGAAGCAGTTCTTTCCTTTCA	0.333										TSP Lung(27;0.18)			A	140990805	C	A	140990805	4	1	27	1	0	0	0	0	0	1	0	0	8955	922	32	5	53	5	LRP1B	2	140990805	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1561656	140990805	102208568	1150	25101											
LRP1B	53353	broad.mit.edu	37	chr2	141665468	141665468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagatagccttcatcagaGccatcaggacaatccttttt	7	11	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:141665468G>A	uc002tvj.1	-	22	4470	c.3498C>T	c.(3496-3498)GGC>GGT	p.G1166G	LRP1B_uc010fnl.1_Silent_p.G348G	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1166	Extracellular (Potential).|LDL-receptor class A 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTCATCAGAGCCATCAGGAC	0.423										TSP Lung(27;0.18)			A	141665468	G	A	141665468	2	1	27	1	0	0	0	0	0	0	0	1	8955	958	34	2		2	LRP1B	2	141665468	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	674663	141665468	101533905	1151	25102											
ARHGAP15	55843	broad.mit.edu	37	chr2	144244959	144244959	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagtgttcagactgcatcacAgtgcttccgatacaagcgac	9	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:144244959A>T	uc002tvm.3	+	9	872	c.721A>T	c.(721-723)AGT>TGT	p.S241C	ARHGAP15_uc002tvn.2_Missense_Mutation_p.S7C	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	241					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)		ACTGCATCACAGTGCTTCCGA	0.338													T	144244959	A	T	144244959	3	4	27	1	0	0	0	0	1	0	0	0	866	188	7	5	751	5	ARHGAP15	2	144244959	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2579491	144244959	98954414	1152	25103											
ZEB2	9839	broad.mit.edu	37	chr2	145156756	145156756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcggagttgggctccatGttcatagcatagtatgcttt	10	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:145156756G>A	uc002tvu.2	-	8	2478	c.1998C>T	c.(1996-1998)AAC>AAT	p.N666N	ZEB2_uc002tvv.2_Silent_p.N660N|ZEB2_uc010zbm.1_Silent_p.N637N|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Silent_p.N695N	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	666	Homeobox; atypical.					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		TGGGCTCCATGTTCATAGCAT	0.448													A	145156756	G	A	145156756	2	1	27	1	0	0	0	0	0	0	0	1	17621	1368	48	4		4	ZEB2	2	145156756	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	911797	145156756	98042617	1153	25104											
ZEB2	9839	broad.mit.edu	37	chr2	145157213	145157213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccattatgactcactaccGgaagaccgacaggcggaata	9	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:145157213G>A	uc002tvu.2	-	8	2021	c.1541C>T	c.(1540-1542)CCG>CTG	p.P514L	ZEB2_uc002tvv.2_Missense_Mutation_p.P508L|ZEB2_uc010zbm.1_Missense_Mutation_p.P485L|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.P543L	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	514						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		ACTCACTACCGGAAGACCGAC	0.418													A	145157213	G	A	145157213	3	1	27	1	0	0	0	0	1	0	0	0	17621	1116	39	1	2115	1	ZEB2	2	145157213	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	457	145157213	98042160	1154	25105											
ZEB2	9839	broad.mit.edu	37	chr2	145161513	145161513	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggcttgtgtgtcaccatAtgccgctcgagctgggtgcg	14	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:145161513A>G	uc002tvu.2	-	6	1257	c.777T>C	c.(775-777)CAT>CAC	p.H259H	ZEB2_uc002tvv.2_Silent_p.H253H|ZEB2_uc010zbm.1_Silent_p.H230H|ZEB2_uc010fnp.2_Silent_p.H167H|ZEB2_uc010fnq.1_Silent_p.H288H	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	259	C2H2-type 2.					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTGTCACCATATGCCGCTCGA	0.428													G	145161513	A	G	145161513	2	3	27	1	0	0	0	0	0	0	0	1	17621	446	16	3		3	ZEB2	2	145161513	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4300	145161513	98037860	1155	25106											
ORC4L	5000	broad.mit.edu	37	chr2	148695720	148695720	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaactaaatcttaccttcaTgacaacaggtttttcaaaat	3	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:148695720T>C	uc002twi.2	-	13	1252	c.1117A>G	c.(1117-1119)ATG>GTG	p.M373V	ORC4L_uc002twj.2_Missense_Mutation_p.M373V|ORC4L_uc010zbo.1_Missense_Mutation_p.M299V|ORC4L_uc010zbp.1_Missense_Mutation_p.M156V|ORC4L_uc010fnr.2_Intron|ORC4L_uc010zbq.1_Missense_Mutation_p.M289V|ORC4L_uc002twk.2_Missense_Mutation_p.M373V|ORC4L_uc002twl.1_5'Flank	NM_181741	NP_859525	O43929	ORC4_HUMAN	origin recognition complex subunit 4	373					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.0963)|COAD - Colon adenocarcinoma(177;0.203)		CTTACCTTCATGACAACAGGT	0.279													C	148695720	T	C	148695720	3	2	27	1	0	0	0	0	1	0	0	0	11264	1464	51	3	201	3	ORC4L	2	148695720	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3534207	148695720	94503653	1156	25107											
MBD5	55777	broad.mit.edu	37	chr2	149247137	149247137	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggcctcgttgtgggtggCccaggtgatgcttccgtaga	16	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:149247137C>T	uc002twm.3	+	12	4225	c.3237C>T	c.(3235-3237)GGC>GGT	p.G1079G	MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Silent_p.G1079G|MBD5_uc002two.2_Silent_p.G337G|MBD5_uc002twp.2_Silent_p.G129G	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1079						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TTGTGGGTGGCCCAGGTGATG	0.498													T	149247137	C	T	149247137	2	4	27	1	0	0	0	0	0	0	0	1	9347	726	26	2		2	MBD5	2	149247137	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	551417	149247137	93952236	1157	25108											
MBD5	55777	broad.mit.edu	37	chr2	149247533	149247533	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggagcgaaacaggtggaaGtacgaggaatttttagatca	15	4	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:149247533G>A	uc002twm.3	+	12	4621	c.3633G>A	c.(3631-3633)AAG>AAA	p.K1211K	MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Silent_p.K1211K|MBD5_uc002two.2_Silent_p.K469K|MBD5_uc002twp.2_Silent_p.K261K	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1211						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ACAGGTGGAAGTACGAGGAAT	0.488													A	149247533	G	A	149247533	2	1	27	1	0	0	0	0	0	0	0	1	9347	1020	36	4		4	MBD5	2	149247533	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	396	149247533	93951840	1158	25109											
RND3	390	broad.mit.edu	37	chr2	151326555	151326555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtaagtccgtagcaactgcCgagagttctggtctgctagg	13	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:151326555C>T	uc002txe.2	-	5	925	c.681G>A	c.(679-681)TCG>TCA	p.S227S	RND3_uc002txf.2_Silent_p.S226S|RND3_uc002txg.2_Silent_p.S227S|RND3_uc010zbv.1_Missense_Mutation_p.R110Q|RND3_uc010zbw.1_Silent_p.S90S	NM_005168	NP_005159	P61587	RND3_HUMAN	ras homolog gene family, member E precursor	227					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.106)		TAGCAACTGCCGAGAGTTCTG	0.408													T	151326555	C	T	151326555	2	4	27	1	0	0	0	0	0	0	0	1	13421	639	23	1		1	RND3	2	151326555	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2079022	151326555	91872818	1159	25110											
RND3	390	broad.mit.edu	37	chr2	151331469	151331469	+	Frame_Shift_Del	DEL	G	G	-													atccgaatcagggtaagagaGggggcggacattgtcatagt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:151331468_151331468AG>A	uc002txg.3	-	3	454	c.269_269CT>T	c.(268-270)ctcfs	p.L90fs	RND3_uc002txe.3_Frame_Shift_Del_p.L90fs|RND3_uc010zbv.2_Frame_Shift_Del_p.L90fs	NM_005168	NP_005159	P61587	RND3_HUMAN	Homo sapiens Rho family GTPase 3 (RND3), transcript variant 2, mRNA.	90					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		AGGGTAAGAGAGGGGGCGGAC	0.463													-	151331469	G	-	151331469	7	5	27	1	0	1	0	1	0	0	0	0	13421	1000	35	0	478	0	RND3	2	151331469	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	4914	151331469	91867904	1160	25111											
RIF1	55183	broad.mit.edu	37	chr2	152326345	152326345	+	Frame_Shift_Del	DEL	A	A	-													tctccaaaagtgtccaatgtAaaaaaggctctcagaatata							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:152326344_152326344TA>T	uc002txm.3	+	33	7222	c.7061_7061TA>T	c.(7060-7062)gtafs	p.V2354fs	RIF1_uc002txn.3_Frame_Shift_Del_p.V2328fs|RIF1_uc002txl.3_Frame_Shift_Del_p.V2328fs|RIF1_uc002txo.3_Frame_Shift_Del_p.V2328fs|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	2354	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GTGTCCAATGTAAAAAAGGCT	0.318													-	152326345	A	-	152326345	7	5	27	1	0	1	0	1	0	0	0	0	13359	349	13	0	7192	0	RIF1	2	152326345	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	994876	152326345	90873028	1161	25112											
RIF1	55183	broad.mit.edu	37	chr2	152330503	152330503	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactcgtggactagaagagaTtccagtttttgatatttctg	10	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:152330503T>C	uc002txm.2	+	35	7251	c.7121T>C	c.(7120-7122)ATT>ACT	p.I2374T	RIF1_uc002txl.2_Missense_Mutation_p.I2348T|RIF1_uc002txn.2_Missense_Mutation_p.I2348T|RIF1_uc002txo.2_Missense_Mutation_p.I2348T|RIF1_uc002txp.2_RNA|uc010fnw.1_5'Flank	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	2374	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CTAGAAGAGATTCCAGTTTTT	0.318													C	152330503	T	C	152330503	3	2	27	1	0	0	0	0	1	0	0	0	13359	1493	52	3	7255	3	RIF1	2	152330503	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4158	152330503	90868870	1162	25113											
NEB	4703	broad.mit.edu	37	chr2	152342334	152342334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccagtcctctgcacagtGccatacatccagccttcatc	6	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:152342334G>A	uc010fnx.2	-	149	20141	c.19950C>T	c.(19948-19950)GGC>GGT	p.G6650G	NEB_uc002txr.2_Silent_p.G2980G|RIF1_uc002txp.2_Intron|NEB_uc010zbz.1_Silent_p.G419G|NEB_uc002txq.2_Silent_p.G529G|NEB_uc010zca.1_Silent_p.G481G|NEB_uc010zcb.1_Silent_p.G419G	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	6650	SH3.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTGCACAGTGCCATACATCC	0.468													A	152342334	G	A	152342334	2	1	27	1	0	0	0	0	0	0	0	1	10302	1306	46	2		2	NEB	2	152342334	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	11831	152342334	90857039	1163	25114											
NEB	4703	broad.mit.edu	37	chr2	152382735	152382735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtgtcaggtacggcatgGcaggttcctctttccttgac	13	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:152382735G>A	uc010fnx.2	-	121	17075	c.16884C>T	c.(16882-16884)TGC>TGT	p.C5628C	NEB_uc002txr.2_Silent_p.C2051C|NEB_uc002txt.3_Silent_p.C133C	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5628	Nebulin 154.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTACGGCATGGCAGGTTCCTC	0.502													A	152382735	G	A	152382735	2	1	27	1	0	0	0	0	0	0	0	1	10302	1195	42	2		2	NEB	2	152382735	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	40401	152382735	90816638	1164	25115											
NEB	4703	broad.mit.edu	37	chr2	152410411	152410411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggggtggcaaatccattcGtggaggcgcaggcggtaatc	16	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:152410411G>A	uc010fnx.2	-	98	14645	c.14454C>T	c.(14452-14454)CAC>CAT	p.H4818H	NEB_uc002txr.2_Silent_p.H1241H	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	4818	Nebulin 131.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAATCCATTCGTGGAGGCGCA	0.488													A	152410411	G	A	152410411	2	1	27	1	0	0	0	0	0	0	0	1	10302	1136	40	1		1	NEB	2	152410411	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	27676	152410411	90788962	1165	25116											
NEB	4703	broad.mit.edu	37	chr2	152472522	152472522	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacatccacttacatcactAgcaatatctcttgaagcctt	3	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:152472522A>G	uc010fnx.2	-	72	10745	c.10554T>C	c.(10552-10554)GCT>GCC	p.A3518A		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3518	Nebulin 96.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTACATCACTAGCAATATCTC	0.383													G	152472522	A	G	152472522	2	3	27	1	0	0	0	0	0	0	0	1	10302	407	15	3		3	NEB	2	152472522	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	62111	152472522	90726851	1166	25117											
NEB	4703	broad.mit.edu	37	chr2	152483715	152483715	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggagatcagatttgtaaAtgttctggagagattaaaca	10	4	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:152483715A>G	uc010fnx.2	-	66	9610	c.9419T>C	c.(9418-9420)ATT>ACT	p.I3140T		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3140	Nebulin 85.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGATTTGTAAATGTTCTGGAG	0.383													G	152483715	A	G	152483715	3	3	27	1	0	0	0	0	1	0	0	0	10302	101	4	3	15990	3	NEB	2	152483715	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	11193	152483715	90715658	1167	25118											
NEB	4703	broad.mit.edu	37	chr2	152496986	152496986	+	Missense_Mutation	SNP	C	C	G													ctgactaaggtctggcacttCttggccagcaccacccccag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:152496986C>G	uc010fnx.2	-	61	8759	c.8568G>C	c.(8566-8568)AAG>AAC	p.K2856N	NEB_uc002txu.2_5'Flank	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2856	Nebulin 77.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTGGCACTTCTTGGCCAGCA	0.567													G	152496986	C	G	152496986	3	3	27	1	0	0	0	0	1	0	0	0	10302	912	32	5	17606	5	NEB	2	152496986	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	13271	152496986	90702387	1168	25119	83	2									
NEB	4703	broad.mit.edu	37	chr2	152496994	152496994	+	Silent	SNP	G	G	A													ggtctggcacttcttggccaGcaccacccccagcatgtcca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:152496994G>A	uc010fnx.2	-	61	8751	c.8560C>T	c.(8560-8562)CTG>TTG	p.L2854L	NEB_uc002txu.2_5'Flank	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2854	Nebulin 77.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTTGGCCAGCACCACCCCC	0.562													A	152496994	G	A	152496994	2	1	27	1	0	0	0	0	0	0	0	1	10302	962	34	2		2	NEB	2	152496994	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	8	152496994	90702379	1169	25120	83	2									
NEB	4703	broad.mit.edu	37	chr2	152497096	152497096	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatcttggccacgtgcatggAccacatcatcttggggtcat	11	11	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:152497096A>T	uc010fnx.2	-	61	8649	c.8458T>A	c.(8458-8460)TCC>ACC	p.S2820T	NEB_uc002txu.2_5'Flank	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2820	Nebulin 76.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACGTGCATGGACCACATCATC	0.507													T	152497096	A	T	152497096	3	4	27	1	0	0	0	0	1	0	0	0	10302	275	10	5	17716	5	NEB	2	152497096	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	102	152497096	90702277	1170	25121											
NEB	4703	broad.mit.edu	37	chr2	152506866	152506866	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actccatcctatgcctctcaGccactcaaggtcagatttat	5	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:152506866G>T	uc010fnx.2	-	54	7446	c.7255C>A	c.(7255-7257)CTG>ATG	p.L2419M		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2419					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGCCTCTCAGCCACTCAAGG	0.443													T	152506866	G	T	152506866	3	4	27	1	0	0	0	0	1	0	0	0	10302	962	34	5	18947	5	NEB	2	152506866	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	9770	152506866	90692507	1171	25122											
NEB	4703	broad.mit.edu	37	chr2	152522613	152522614	+	Frame_Shift_Ins	INS	-	-	A													cagtacatacatcactctgaINSatctgcatggcattcctgga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:152522612_152522613G>GA	uc021vrb.1	-	38	5051_5052	c.5022_5023C>TC	c.(5020-5025)attcagfs	p.I1674fs	NEB_uc002txu.3_Frame_Shift_Ins_p.I1674fs|NEB_uc021vrc.1_Frame_Shift_Ins_p.I1674fs|NEB_uc010fnx.3_Frame_Shift_Ins_p.I1674fs|NEB_uc021vrd.1_Frame_Shift_Ins_p.I1674fs	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1674					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACATCACTCTGAATCTGCATGG	0.5													A	152522614	-	A	152522613	7	5	27	1	0	1	1	0	0	0	0	0	10302	242	9	0	21232	0	NEB	2	152522613	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	15747	152522613	90676760	1172	25123											
NEB	4703	broad.mit.edu	37	chr2	152522861	152522861	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaggatcatcctgaagacTgagaaatccaacttgcttgc	8	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:152522861T>C	uc010fnx.2	-	41	4965	c.4774A>G	c.(4774-4776)AGT>GGT	p.S1592G		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1592	Nebulin 41.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCCTGAAGACTGAGAAATCCA	0.428													C	152522861	T	C	152522861	3	2	27	1	0	0	0	0	1	0	0	0	10302	1580	55	3	21480	3	NEB	2	152522861	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	248	152522861	90676512	1173	25124											
NEB	4703	broad.mit.edu	37	chr2	152536326	152536326	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgctcaagtctttcaagTctgctttgtacatattctga	6	9	6	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:152536326T>C	uc010fnx.2	-	32	3355	c.3164A>G	c.(3163-3165)GAC>GGC	p.D1055G		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1055	Nebulin 25.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCTTTCAAGTCTGCTTTGTA	0.463													C	152536326	T	C	152536326	3	2	27	1	0	0	0	0	1	0	0	0	10302	1667	58	3	23126	3	NEB	2	152536326	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	13465	152536326	90663047	1174	25125											
ARL5A	26225	broad.mit.edu	37	chr2	152670830	152670830	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtacaacttcattcatagaActggggaaaaaagtttatat	7	5	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:152670830A>G	uc002txx.1	-	3	427	c.108T>C	c.(106-108)TTT>TTC	p.F36F	ARL5A_uc010zcc.1_RNA|ARL5A_uc002txv.1_5'UTR|ARL5A_uc002txw.1_5'UTR	NM_012097	NP_036229	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A isoform 1	36					small GTPase mediated signal transduction	intracellular	GTP binding				0				BRCA - Breast invasive adenocarcinoma(221;0.153)		CATTCATAGAACTGGGGAAAA	0.328													G	152670830	A	G	152670830	2	3	27	1	0	0	0	0	0	0	0	1	939	57	2	3		3	ARL5A	2	152670830	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	134504	152670830	90528543	1175	25126											
FMNL2	114793	broad.mit.edu	37	chr2	153378496	153378496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacaaagccaggttactgCggcagtatgataatgagaaa	11	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:153378496C>T	uc002tye.2	+	2	524	c.157C>T	c.(157-159)CGG>TGG	p.R53W		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	53	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3						CAGGTTACTGCGGCAGTATGA	0.363													T	153378496	C	T	153378496	3	4	27	1	0	0	0	0	1	0	0	0	5952	759	27	1	163	1	FMNL2	2	153378496	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	707666	153378496	89820877	1176	25127											
FMNL2	114793	broad.mit.edu	37	chr2	153475388	153475388	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagatgcaaatactcaagTtcacacattaagaaaaatgg	6	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:153475388T>C	uc002tye.2	+	14	1710	c.1343T>C	c.(1342-1344)GTT>GCT	p.V448A	FMNL2_uc010fob.2_5'Flank|FMNL2_uc002tyf.2_5'Flank	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	448	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3						AATACTCAAGTTCACACATTA	0.348													C	153475388	T	C	153475388	3	2	27	1	0	0	0	0	1	0	0	0	5952	1725	60	3	1397	3	FMNL2	2	153475388	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	96892	153475388	89723985	1177	25128											
RPRM	56475	broad.mit.edu	37	chr2	154334890	154334890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccacggtgagtgagagcaCgcacatgaccgcgatctgca	13	12	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:154334890C>T	uc002tyq.1	-	1	433	c.190G>A	c.(190-192)GTG>ATG	p.V64M		NM_019845	NP_062819	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependant G2 arrest mediator	64	Helical; (Potential).				cell cycle arrest	cytoplasm|integral to membrane	protein binding				0						AGTGAGAGCACGCACATGACC	0.622													T	154334890	C	T	154334890	3	4	27	1	0	0	0	0	1	0	0	0	13618	536	19	1	143	1	RPRM	2	154334890	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	859502	154334890	88864483	1178	25129											
GALNT13	114805	broad.mit.edu	37	chr2	155098640	155098640	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctccttagaactgtttacAgtgtgataaatcgttcccca	6	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:155098640A>G	uc002tyr.3	+	5	976	c.409A>G	c.(409-411)AGT>GGT	p.S137G	GALNT13_uc002tyt.3_Missense_Mutation_p.S137G|GALNT13_uc010foc.1_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	137	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						AACTGTTTACAGTGTGATAAA	0.368													G	155098640	A	G	155098640	3	3	27	1	0	0	0	0	1	0	0	0	6211	188	7	3	419	3	GALNT13	2	155098640	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	763750	155098640	88100733	1179	25130											
NR4A2	4929	broad.mit.edu	37	chr2	157186496	157186496	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttgacgtcgtagcctgtgCtgtagttgtccataaaggta	12	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:157186496C>A	uc002tyz.3	-	3	625	c.203G>T	c.(202-204)AGC>ATC	p.S68I	NR4A2_uc002tyx.3_Missense_Mutation_p.S5I|NR4A2_uc010zcf.1_Missense_Mutation_p.S68I|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	68					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						GTAGCCTGTGCTGTAGTTGTC	0.488													A	157186496	C	A	157186496	3	1	27	1	0	0	0	0	1	0	0	0	10633	797	28	5	1617	5	NR4A2	2	157186496	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2087856	157186496	86012877	1180	25131											
GPD2	2820	broad.mit.edu	37	chr2	157369851	157369851	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttatgctgtaggtggtgGcagttaccttactactgggt	12	6	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:157369851G>A	uc002tzf.3	+	6	864	c.504G>A	c.(502-504)TGG>TGA	p.W168*	GPD2_uc010zch.1_Intron|GPD2_uc002tzd.3_Nonsense_Mutation_p.W168*|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	168					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1						GTAGGTGGTGGCAGTTACCTT	0.388													A	157369851	G	A	157369851	4	1	27	1	0	0	0	0	0	1	0	0	6606	1212	42	2	522	2	GPD2	2	157369851	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	183355	157369851	85829522	1181	25132											
GPD2	2820	broad.mit.edu	37	chr2	157425912	157425912	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatcggtctatggcagaagaTaccataaatgctgctgtcaa	9	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:157425912T>A	uc002tzf.3	+	11	1698	c.1338T>A	c.(1336-1338)GAT>GAA	p.D446E	GPD2_uc010zch.1_Missense_Mutation_p.D219E|GPD2_uc002tzd.3_Missense_Mutation_p.D446E|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	446					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1						TGGCAGAAGATACCATAAATG	0.393													A	157425912	T	A	157425912	3	1	27	1	0	0	0	0	1	0	0	0	6606	1403	49	5	1376	5	GPD2	2	157425912	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	56061	157425912	85773461	1182	25133											
ACVR1C	130399	broad.mit.edu	37	chr2	158406865	158406865	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctactatttcctgaagcacaAtcgtccttgcaattgtcctt	5	12	0	1	rs56188432	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:158406865A>G	uc002tzk.3	-	4	827	c.584T>C	c.(583-585)ATT>ACT	p.I195T	ACVR1C_uc002tzl.3_Missense_Mutation_p.I115T|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Missense_Mutation_p.I145T	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC isoform 1	195	Protein kinase.|Cytoplasmic (Potential).		I -> T.		apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			lung(3)|ovary(2)|skin(2)	7						CTGAAGCACAATCGTCCTTGC	0.398													G	158406865	A	G	158406865	3	3	27	1	0	0	0	0	1	0	0	0	222	101	4	3	921	3	ACVR1C	2	158406865	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	980953	158406865	84792508	1183	25134											
UPP2	151531	broad.mit.edu	37	chr2	158971666	158971666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcatttgcactgtttatGcacaaggagctcgggtttga	11	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:158971666G>A	uc002tzp.2	+	3	428	c.234G>A	c.(232-234)ATG>ATA	p.M78I	UPP2_uc002tzo.2_Missense_Mutation_p.M135I	NM_173355	NP_775491	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform a	78					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity				0						CACTGTTTATGCACAAGGAGC	0.458													A	158971666	G	A	158971666	3	1	27	1	0	0	0	0	1	0	0	0	17010	1319	46	2	423	2	UPP2	2	158971666	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	564801	158971666	84227707	1184	25135											
CCDC148	130940	broad.mit.edu	37	chr2	159195339	159195339	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgaagatttcaaatcaggGtatgggcattccaaactttc	8	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:159195339G>A	uc002tzq.2	-	7	926	c.663C>T	c.(661-663)TAC>TAT	p.Y221Y	CCDC148_uc002tzr.2_Silent_p.Y69Y|CCDC148_uc010foh.2_Intron|CCDC148_uc010foi.1_Silent_p.Y168Y|CCDC148_uc010foj.1_Silent_p.Y69Y|CCDC148_uc010fok.1_Silent_p.Y135Y|CCDC148_uc002tzs.1_Silent_p.Y221Y	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	221										ovary(2)	2						TCAAATCAGGGTATGGGCATT	0.338													A	159195339	G	A	159195339	2	1	27	1	0	0	0	0	0	0	0	1	2782	1256	44	4		4	CCDC148	2	159195339	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	223673	159195339	84004034	1185	25136											
PKP4	8502	broad.mit.edu	37	chr2	159517928	159517928	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcactgttgtatgtgatccAcacgtgtgtgaacacatccg	9	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:159517928A>G	uc002tzv.2	+	13	2437	c.2177A>G	c.(2176-2178)CAC>CGC	p.H726R	PKP4_uc002tzt.1_Missense_Mutation_p.H578R|PKP4_uc002tzu.2_Missense_Mutation_p.H726R|PKP4_uc002tzw.2_Missense_Mutation_p.H726R|PKP4_uc002tzx.2_Missense_Mutation_p.H383R|PKP4_uc002tzy.1_Missense_Mutation_p.H384R|PKP4_uc002uaa.2_Missense_Mutation_p.H578R|uc002uab.1_RNA|PKP4_uc002uac.2_5'Flank	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	726	ARM 6.				cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						TATGTGATCCACACGTGTGTG	0.577										HNSCC(62;0.18)			G	159517928	A	G	159517928	3	3	27	1	0	0	0	0	1	0	0	0	11987	159	6	3	2223	3	PKP4	2	159517928	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	322589	159517928	83681445	1186	25137											
DAPL1	92196	broad.mit.edu	37	chr2	159660836	159660836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaaaaaacaagaaattgGcaccttggaaagacatacca	6	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:159660836G>A	uc002uaf.2	+	2	157	c.101G>A	c.(100-102)GGC>GAC	p.G34D		NM_001017920	NP_001017920	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	34					apoptosis|cell differentiation						0						CAAGAAATTGGCACCTTGGAA	0.383													A	159660836	G	A	159660836	3	1	27	1	0	0	0	0	1	0	0	0	4238	1203	42	2	107	2	DAPL1	2	159660836	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	142908	159660836	83538537	1187	25138											
TANC1	85461	broad.mit.edu	37	chr2	160050845	160050845	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataatgccccaatcctgtgCgtccagtctcaccttggcca	7	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:160050845C>T	uc002uag.2	+	17	3094	c.2820C>T	c.(2818-2820)TGC>TGT	p.C940C	TANC1_uc010zcm.1_Silent_p.C932C|TANC1_uc010fom.1_Silent_p.C746C	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	940	ANK 2.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						CAATCCTGTGCGTCCAGTCTC	0.552													T	160050845	C	T	160050845	2	4	27	1	0	0	0	0	0	0	0	1	15541	776	27	1		1	TANC1	2	160050845	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	390009	160050845	83148528	1188	25139											
TANC1	85461	broad.mit.edu	37	chr2	160050927	160050927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacggaacgtcagagaacGgcatgactgccctctgttac	12	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:160050927G>A	uc002uag.2	+	17	3176	c.2902G>A	c.(2902-2904)GGC>AGC	p.G968S	TANC1_uc010zcm.1_Missense_Mutation_p.G960S|TANC1_uc010fom.1_Missense_Mutation_p.G774S	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	968	ANK 3.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						GTCAGAGAACGGCATGACTGC	0.567													A	160050927	G	A	160050927	3	1	27	1	0	0	0	0	1	0	0	0	15541	1116	39	1	2960	1	TANC1	2	160050927	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	82	160050927	83148446	1189	25140											
BAZ2B	29994	broad.mit.edu	37	chr2	160289417	160289417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgttccactaaagattttGcaggatgggagtgatgctgt	12	5	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:160289417G>A	uc002uao.2	-	9	2103	c.1751C>T	c.(1750-1752)GCA>GTA	p.A584V	BAZ2B_uc002uap.2_Missense_Mutation_p.A582V|BAZ2B_uc002uas.1_Missense_Mutation_p.A521V|BAZ2B_uc002uaq.1_Missense_Mutation_p.A512V|BAZ2B_uc002uar.1_Missense_Mutation_p.A157V	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						TAAAGATTTTGCAGGATGGGA	0.353													A	160289417	G	A	160289417	3	1	27	1	0	0	0	0	1	0	0	0	1332	1319	46	2	4871	2	BAZ2B	2	160289417	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	238490	160289417	82909956	1190	25141											
ITGB6	3694	broad.mit.edu	37	chr2	161029176	161029176	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttgctgtccattccaaaAtgagaatcagcatcactcac	6	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:161029176A>G	uc002ubh.2	-	6	841	c.825T>C	c.(823-825)CAT>CAC	p.H275H	ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Silent_p.H275H|ITGB6_uc010zcq.1_Silent_p.H233H|ITGB6_uc010fov.1_Silent_p.H275H	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6 precursor	275	Extracellular (Potential).|VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3						CCATTCCAAAATGAGAATCAG	0.448													G	161029176	A	G	161029176	2	3	27	1	0	0	0	0	0	0	0	1	7899	98	4	3		3	ITGB6	2	161029176	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	739759	161029176	82170197	1191	25142											
TANK	10010	broad.mit.edu	37	chr2	162087958	162087958	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgcgtgtttgccacctggaGaccataatgcattatatgta	9	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:162087958G>A	uc002ubr.1	+	7	1155	c.997G>A	c.(997-999)GAC>AAC	p.D333N	TANK_uc002ubs.2_Missense_Mutation_p.D333N	NM_004180	NP_004171	Q92844	TANK_HUMAN	TRAF interacting protein TANK isoform a	333						cytosol	metal ion binding|protein binding			ovary(1)	1						GCCACCTGGAGACCATAATGC	0.443													A	162087958	G	A	162087958	3	1	27	1	0	0	0	0	1	0	0	0	15543	942	33	4	1052	4	TANK	2	162087958	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1058782	162087958	81111415	1192	25143											
TBR1	10716	broad.mit.edu	37	chr2	162279997	162279997	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctttcctgcaggaccagttCgtgagcaactacgccaaggc	10	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:162279997C>T	uc002ubw.1	+	6	1610	c.1308C>T	c.(1306-1308)TTC>TTT	p.F436F	TBR1_uc010foy.2_Silent_p.F149F	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	436						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						AGGACCAGTTCGTGAGCAACT	0.587													T	162279997	C	T	162279997	2	4	27	1	0	0	0	0	0	0	0	1	15644	883	31	1		1	TBR1	2	162279997	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	192039	162279997	80919376	1193	25144											
SLC4A10	57282	broad.mit.edu	37	chr2	162661031	162661031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcgacgtcacaggcatcGtggtcataaacacagaaaga	9	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:162661031G>A	uc002ubx.3	+	3	387	c.203G>A	c.(202-204)CGT>CAT	p.R68H	SLC4A10_uc010fpa.1_Missense_Mutation_p.R80H|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.R68H|SLC4A10_uc010zcs.1_Missense_Mutation_p.R79H	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	68	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						CACAGGCATCGTGGTCATAAA	0.418													A	162661031	G	A	162661031	3	1	27	1	0	0	0	0	1	0	0	0	14651	1145	40	1	298	1	SLC4A10	2	162661031	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	381034	162661031	80538342	1194	25145											
DPP4	1803	broad.mit.edu	37	chr2	162875293	162875293	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgaatgacacagaatagtActgacacctttccggattca	7	10	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:162875293A>G	uc002ubz.2	-	16	1927	c.1366T>C	c.(1366-1368)TAC>CAC	p.Y456H	DPP4_uc010fpb.2_Missense_Mutation_p.Y132H	NM_001935	NP_001926	P27487	DPP4_HUMAN	dipeptidylpeptidase IV	456	Extracellular (Potential).				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			ovary(3)	3					Sitagliptin(DB01261)	ACAGAATAGTACTGACACCTT	0.463													G	162875293	A	G	162875293	3	3	27	1	0	0	0	0	1	0	0	0	4729	391	14	3	978	3	DPP4	2	162875293	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	214262	162875293	80324080	1195	25146											
IFIH1	64135	broad.mit.edu	37	chr2	163174369	163174369	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacagacacctacccggTttctgtcttcaattgtcaac	6	13	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:163174369T>G	uc002uce.2	-	1	671	c.449A>C	c.(448-450)AAC>ACC	p.N150T	IFIH1_uc002ucf.2_Missense_Mutation_p.N150T	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	150	CARD 2.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			ovary(1)	1						ACCTACCCGGTTTCTGTCTTC	0.488													G	163174369	T	G	163174369	3	3	27	1	0	0	0	0	1	0	0	0	7520	1725	60	5	2692	5	IFIH1	2	163174369	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	299076	163174369	80025004	1196	25147											
KCNH7	90134	broad.mit.edu	37	chr2	163256819	163256819	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctggaggtgcatgggtggTtttgaacttcattgccaaag	13	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:163256819T>C	uc002uch.1	-	10	2499	c.2287A>G	c.(2287-2289)ACC>GCC	p.T763A		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	763	Cytoplasmic (Potential).|cNMP.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	GCATGGGTGGTTTTGAACTTC	0.463													C	163256819	T	C	163256819	3	2	27	1	0	0	0	0	1	0	0	0	8037	1725	60	3	1331	3	KCNH7	2	163256819	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	82450	163256819	79942554	1197	25148											
KCNH7	90134	broad.mit.edu	37	chr2	163361170	163361170	+	Splice_Site	DEL	A	A	-													tgatatgattaaaaggccctAaaaaaatggaaagtatttgt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:163361169_163361169TA>T	uc002uch.2	-	6	1143	c.914_splice	c.e6-1	p.G305_splice	KCNH7_uc002uci.3_Splice_Site_p.G298_splice	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	305					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TAAAAGGCCCTAAAAAAATGG	0.373													-	163361170	A	-	163361170	8	5	27	1	0	1	0	1	0	0	1	0	8037	377	13	0		0	KCNH7	2	163361170	Splice_Site	DEL	A	TCGA-BR-6452-01A-12D-1800-08	104351	163361170	79838203	1198	25149											
FIGN	55137	broad.mit.edu	37	chr2	164466724	164466724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggcccccagctgactagCgatgcatctgcccaataatg	10	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:164466724C>T	uc002uck.1	-	3	1929	c.1618G>A	c.(1618-1620)GCT>ACT	p.A540T		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	540						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						AGCTGACTAGCGATGCATCTG	0.498													T	164466724	C	T	164466724	3	4	27	1	0	0	0	0	1	0	0	0	5891	768	27	1	665	1	FIGN	2	164466724	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1105554	164466724	78732649	1199	25150											
COBLL1	22837	broad.mit.edu	37	chr2	165551250	165551250	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcatggacactcttggcAgctgcagatgtcacatagtg	12	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:165551250A>G	uc010zcw.1	-	15	3091	c.2967T>C	c.(2965-2967)GCT>GCC	p.A989A	COBLL1_uc002ucp.2_Silent_p.A922A|COBLL1_uc002ucq.2_Silent_p.A884A|COBLL1_uc010zcx.1_Silent_p.A930A|COBLL1_uc002ucn.2_Silent_p.A350A|COBLL1_uc002uco.2_Silent_p.A653A	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	960										ovary(2)|pancreas(1)	3						CACTCTTGGCAGCTGCAGATG	0.473													G	165551250	A	G	165551250	2	3	27	1	0	0	0	0	0	0	0	1	3654	175	7	3		3	COBLL1	2	165551250	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1084526	165551250	77648123	1200	25151											
SLC38A11	151258	broad.mit.edu	37	chr2	165768194	165768194	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgtcaaaatgacagtgacAccataacaaaatcttccaaa	4	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:165768194A>G	uc002ucv.1	-	11	1284	c.747T>C	c.(745-747)GGT>GGC	p.G249G	SLC38A11_uc002ucu.1_Silent_p.G227G|SLC38A11_uc002ucw.1_Silent_p.G249G	NM_173512	NP_775783	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	249	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1						TGACAGTGACACCATAACAAA	0.378													G	165768194	A	G	165768194	2	3	27	1	0	0	0	0	0	0	0	1	14603	146	6	3		3	SLC38A11	2	165768194	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	216944	165768194	77431179	1201	25152											
SCN3A	6328	broad.mit.edu	37	chr2	165950924	165950924	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctgaggtttcttggatccaAgtttcttcattgcattgtaa	8	7	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:165950924A>T	uc002ucx.2	-	26	4988	c.4496T>A	c.(4495-4497)CTT>CAT	p.L1499H	SCN3A_uc010zcy.1_5'Flank|SCN3A_uc002ucy.2_Missense_Mutation_p.L1450H|SCN3A_uc002ucz.2_Missense_Mutation_p.L1450H	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1499						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	CTTGGATCCAAGTTTCTTCAT	0.378													T	165950924	A	T	165950924	3	4	27	1	0	0	0	0	1	0	0	0	13918	72	3	5	1518	5	SCN3A	2	165950924	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	182730	165950924	77248449	1202	25153											
SCN3A	6328	broad.mit.edu	37	chr2	165997314	165997314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcctgactaacgttactGttgcgtcgctctccatgtct	9	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:165997314G>A	uc002ucx.2	-	13	2358	c.1866C>T	c.(1864-1866)AAC>AAT	p.N622N	SCN3A_uc002ucy.2_Silent_p.N622N|SCN3A_uc002ucz.2_Silent_p.N622N|SCN3A_uc002uda.1_Silent_p.N491N|SCN3A_uc002udb.1_Silent_p.N491N	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	622						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	TAACGTTACTGTTGCGTCGCT	0.498													A	165997314	G	A	165997314	2	1	27	1	0	0	0	0	0	0	0	1	13918	1368	48	4		4	SCN3A	2	165997314	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	46390	165997314	77202059	1203	25154											
SCN3A	6328	broad.mit.edu	37	chr2	166011130	166011130	+	Frame_Shift_Del	DEL	A	A	-													cccaagaaaatgaccaggacAaaaaatatcatgtatgtttt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:166011129_166011129CA>C	uc002ucx.3	-	10	1705	c.1213_1213TG>G	c.(1213-1215)gtcfs	p.V405fs	SCN3A_uc002ucy.3_Frame_Shift_Del_p.V405fs|SCN3A_uc002ucz.3_Frame_Shift_Del_p.V405fs|SCN3A_uc002uda.1_Frame_Shift_Del_p.V274fs|SCN3A_uc002udb.1_Frame_Shift_Del_p.V274fs	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	405						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATGACCAGGACAAAAAATATC	0.418													-	166011130	A	-	166011130	7	5	27	1	0	1	0	1	0	0	0	0	13918	127	5	0	4862	0	SCN3A	2	166011130	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	13816	166011130	77188243	1204	25155											
SCN2A	6326	broad.mit.edu	37	chr2	166152539	166152539	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatttatttatggagacaTtcctccagagatggtgtcag	9	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:166152539T>C	uc002udc.2	+	2	496	c.206T>C	c.(205-207)ATT>ACT	p.I69T	SCN2A_uc002udd.2_Missense_Mutation_p.I69T|SCN2A_uc002ude.2_Missense_Mutation_p.I69T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	69					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	TATGGAGACATTCCTCCAGAG	0.443													C	166152539	T	C	166152539	3	2	27	1	0	0	0	0	1	0	0	0	13916	1493	52	3	208	3	SCN2A	2	166152539	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	141409	166152539	77046834	1205	25156											
SCN2A	6326	broad.mit.edu	37	chr2	166168564	166168564	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attttttagaggggcaaaatGatgctctgctttgtggcaac	11	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:166168564G>A	uc002udc.2	+	8	1290	c.1000G>A	c.(1000-1002)GAT>AAT	p.D334N	SCN2A_uc002udd.2_Missense_Mutation_p.D334N|SCN2A_uc002ude.2_Missense_Mutation_p.D334N	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	334	I.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	GGGGCAAAATGATGCTCTGCT	0.418													A	166168564	G	A	166168564	3	1	27	1	0	0	0	0	1	0	0	0	13916	1290	45	4	1122	4	SCN2A	2	166168564	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	16025	166168564	77030809	1206	25157											
SCN2A	6326	broad.mit.edu	37	chr2	166179742	166179742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttttcagcttcagaggtcGagcaaaggacattggctctg	11	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:166179742G>A	uc002udc.2	+	12	2038	c.1748G>A	c.(1747-1749)CGA>CAA	p.R583Q	SCN2A_uc002udd.2_Missense_Mutation_p.R583Q|SCN2A_uc002ude.2_Missense_Mutation_p.R583Q	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	583					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	TTCAGAGGTCGAGCAAAGGAC	0.493													A	166179742	G	A	166179742	3	1	27	1	0	0	0	0	1	0	0	0	13916	1058	37	1	1886	1	SCN2A	2	166179742	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	11178	166179742	77019631	1207	25158											
SCN2A	6326	broad.mit.edu	37	chr2	166231207	166231207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgccaggttgttgtaaatGctcttttaggagccattcca	10	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:166231207G>A	uc002udc.2	+	22	4275	c.3985G>A	c.(3985-3987)GCT>ACT	p.A1329T	SCN2A_uc002udd.2_Missense_Mutation_p.A1329T|SCN2A_uc002ude.2_Missense_Mutation_p.A1329T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1329	III.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	TGTTGTAAATGCTCTTTTAGG	0.338													A	166231207	G	A	166231207	3	1	27	1	0	0	0	0	1	0	0	0	13916	1319	46	2	4163	2	SCN2A	2	166231207	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	51465	166231207	76968166	1208	25159											
TTC21B	79809	broad.mit.edu	37	chr2	166786211	166786211	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttaaaaattctagctgctgAtctgcatcctgtaattgccc	6	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:166786211A>T	uc002udk.2	-	10	1267	c.1134T>A	c.(1132-1134)GAT>GAA	p.D378E	TTC21B_uc002udl.2_Missense_Mutation_p.D378E	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	378						cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						CTAGCTGCTGATCTGCATCCT	0.368													T	166786211	A	T	166786211	3	4	27	1	0	0	0	0	1	0	0	0	16685	330	12	5	2896	5	TTC21B	2	166786211	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	555004	166786211	76413162	1209	25160											
TTC21B	79809	broad.mit.edu	37	chr2	166802129	166802129	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaaataagcctgcatggtAtaaggctttctctccagctc	7	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:166802129A>C	uc002udk.2	-	4	467	c.334T>G	c.(334-336)TAC>GAC	p.Y112D	TTC21B_uc002udl.2_Missense_Mutation_p.Y112D|uc002udm.1_Intron	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	112	TPR 1.					cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						CCTGCATGGTATAAGGCTTTC	0.383													C	166802129	A	C	166802129	3	2	27	1	0	0	0	0	1	0	0	0	16685	449	16	5	3720	5	TTC21B	2	166802129	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	15918	166802129	76397244	1210	25161											
SCN1A	6323	broad.mit.edu	37	chr2	166848920	166848920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatacttttctatcagctcgGcaagaaacatacctatgaat	5	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:166848920G>A	uc010zcz.1	-	26	4850	c.4832C>T	c.(4831-4833)GCC>GTC	p.A1611V		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1622	IV.|Helical; Name=S3 of repeat IV; (By similarity).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TATCAGCTCGGCAAGAAACAT	0.418													A	166848920	G	A	166848920	3	1	27	1	0	0	0	0	1	0	0	0	13914	1203	42	2	1168	2	SCN1A	2	166848920	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	46791	166848920	76350453	1211	25162											
SCN9A	6335	broad.mit.edu	37	chr2	167133605	167133605	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actctccacacagcacgcggAacacaatcaggaaggagtgg	11	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:167133605A>T	uc010fpl.2	-	16	3070	c.2729T>A	c.(2728-2730)TTC>TAC	p.F910Y	uc002udp.2_RNA	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	921	II.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	CAGCACGCGGAACACAATCAG	0.478													T	167133605	A	T	167133605	3	4	27	1	0	0	0	0	1	0	0	0	13925	246	9	5	3252	5	SCN9A	2	167133605	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	284685	167133605	76065768	1212	25163											
XIRP2	129446	broad.mit.edu	37	chr2	168104512	168104512	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggatataaagaaaaagaatAtaaaccttcaaccaatgtgg	7	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:168104512A>G	uc002udx.2	+	8	6628	c.6610A>G	c.(6610-6612)ATA>GTA	p.I2204V	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.I2029V|XIRP2_uc010fpq.2_Missense_Mutation_p.I1982V|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2029					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GAAAAAGAATATAAACCTTCA	0.358													G	168104512	A	G	168104512	3	3	27	1	0	0	0	0	1	0	0	0	17427	449	16	3	6640	3	XIRP2	2	168104512	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	970907	168104512	75094861	1213	25164											
LASS6	253782	broad.mit.edu	37	chr2	169313062	169313062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggccaccttcccgcaggCtgaggacctctatctcgctt	11	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:169313062C>T	uc002ueb.1	+	1	228	c.104C>T	c.(103-105)GCT>GTT	p.A35V	LASS6_uc002uec.1_Missense_Mutation_p.A35V	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	longevity assurance homolog 6	35	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			skin(1)	1						TTCCCGCAGGCTGAGGACCTC	0.597													T	169313062	C	T	169313062	3	4	27	1	0	0	0	0	1	0	0	0	8643	797	28	2	106	2	LASS6	2	169313062	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1208550	169313062	73886311	1214	25165											
NOSTRIN	115677	broad.mit.edu	37	chr2	169699539	169699539	+	Frame_Shift_Del	DEL	A	A	-													aaaatcaactgaaaagttggAaaaggaagatgaaaattact							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:169699538_169699538GA>G	uc002ueg.3	+	7	807	c.541_541GA>G	c.(541-543)gaafs	p.E181fs	NOSTRIN_uc002uef.3_Frame_Shift_Del_p.E181fs|NOSTRIN_uc002ueh.3_Frame_Shift_Del_p.E103fs|NOSTRIN_uc010fpu.3_Frame_Shift_Del_p.E153fs	NM_001039724	NP_443178	Q8IVI9	NOSTN_HUMAN	Homo sapiens nitric oxide synthase trafficker (NOSTRIN), transcript variant 2, mRNA.	181					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TGAAAAGTTGGAAAAGGAAGA	0.338													-	169699539	A	-	169699539	7	5	27	1	0	1	0	1	0	0	0	0	10546	246	9	0	572	0	NOSTRIN	2	169699539	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	386477	169699539	73499834	1215	25166											
ABCB11	8647	broad.mit.edu	37	chr2	169783702	169783702	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaaatcatgcagctgagcCtgttttgcagctgctatgac	9	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:169783702C>A	uc002ueo.1	-	26	3708	c.3582G>T	c.(3580-3582)CAG>CAT	p.Q1194H	ABCB11_uc010zda.1_Missense_Mutation_p.Q612H|ABCB11_uc010zdb.1_Missense_Mutation_p.Q670H	NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	1194	Cytoplasmic (Potential).|ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GCAGCTGAGCCTGTTTTGCAG	0.453													A	169783702	C	A	169783702	3	1	27	1	0	0	0	0	1	0	0	0	42	680	24	5	395	5	ABCB11	2	169783702	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	84163	169783702	73415671	1216	25167											
ABCB11	8647	broad.mit.edu	37	chr2	169792759	169792759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtcccaccatctccaggGcctgcttatctcgagaggca	9	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:169792759G>A	uc002ueo.1	-	22	2921	c.2795C>T	c.(2794-2796)GCC>GTC	p.A932V	ABCB11_uc010zda.1_Missense_Mutation_p.A374V|ABCB11_uc010zdb.1_Missense_Mutation_p.A408V	NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	932	Cytoplasmic (Potential).|ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CATCTCCAGGGCCTGCTTATC	0.478													A	169792759	G	A	169792759	3	1	27	1	0	0	0	0	1	0	0	0	42	1203	42	2	1198	2	ABCB11	2	169792759	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	9057	169792759	73406614	1217	25168											
DHRS9	10170	broad.mit.edu	37	chr2	169939959	169939959	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtttggactcatcagtgtgaCactaaatatgcttcctttgg	9	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:169939959C>G	uc002uep.2	+	6	1938	c.434C>G	c.(433-435)ACA>AGA	p.T145R	DHRS9_uc002ueq.2_Missense_Mutation_p.T145R|DHRS9_uc010zdc.1_Missense_Mutation_p.T205R|DHRS9_uc010zdd.1_Missense_Mutation_p.T145R|DHRS9_uc010zde.1_Missense_Mutation_p.T145R	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN	NADP-dependent retinol dehydrogenase/reductase	145					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity				0						ATCAGTGTGACACTAAATATG	0.493													G	169939959	C	G	169939959	3	3	27	1	0	0	0	0	1	0	0	0	4498	478	17	5	440	5	DHRS9	2	169939959	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	147200	169939959	73259414	1218	25169											
DHRS9	10170	broad.mit.edu	37	chr2	169940033	169940033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgttggaggtcgccttGcaatcgttggagggggctat	16	8	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:169940033G>A	uc002uep.2	+	6	2012	c.508G>A	c.(508-510)GCA>ACA	p.A170T	DHRS9_uc002ueq.2_Missense_Mutation_p.A170T|DHRS9_uc010zdc.1_Missense_Mutation_p.A230T|DHRS9_uc010zdd.1_Missense_Mutation_p.A170T|DHRS9_uc010zde.1_Missense_Mutation_p.A170T	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN	NADP-dependent retinol dehydrogenase/reductase	170					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity				0						AGGTCGCCTTGCAATCGTTGG	0.408													A	169940033	G	A	169940033	3	1	27	1	0	0	0	0	1	0	0	0	4498	1319	46	2	514	2	DHRS9	2	169940033	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	74	169940033	73259340	1219	25170											
LRP2	4036	broad.mit.edu	37	chr2	170012784	170012784	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaacatgaacccatcatacCctcagctgcacatcgttttc	4	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:170012784C>A	uc002ues.2	-	65	12364	c.12151G>T	c.(12151-12153)GGT>TGT	p.G4051C		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4051	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCCATCATACCCTCAGCTGCA	0.428													A	170012784	C	A	170012784	3	1	27	1	0	0	0	0	1	0	0	0	8956	637	22	5	1876	5	LRP2	2	170012784	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	72751	170012784	73186589	1220	25171											
LRP2	4036	broad.mit.edu	37	chr2	170034315	170034315	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcaatcacctactcaccaAtgggctgcctatatggatgg	8	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:170034315A>G	uc002ues.2	-	53	10604	c.10391T>C	c.(10390-10392)ATT>ACT	p.I3464T		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3464	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTACTCACCAATGGGCTGCCT	0.413													G	170034315	A	G	170034315	3	3	27	1	0	0	0	0	1	0	0	0	8956	101	4	3	3684	3	LRP2	2	170034315	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	21531	170034315	73165058	1221	25172											
LRP2	4036	broad.mit.edu	37	chr2	170066149	170066149	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccacatgcagtgcgtttcGtcctggaagttaagaaaaga	10	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:170066149G>A	uc002ues.2	-	38	6496	c.6283C>T	c.(6283-6285)CGA>TGA	p.R2095*		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2095	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGTGCGTTTCGTCCTGGAAGT	0.418													A	170066149	G	A	170066149	4	1	27	1	0	0	0	0	0	1	0	0	8956	1153	40	1	7852	1	LRP2	2	170066149	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	31834	170066149	73133224	1222	25173											
LRP2	4036	broad.mit.edu	37	chr2	170097855	170097855	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaattcatctgagtggcAcataccaggaggcctggttg	12	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:170097855A>G	uc002ues.2	-	25	3901	c.3688T>C	c.(3688-3690)TGC>CGC	p.C1230R	LRP2_uc010zdf.1_Missense_Mutation_p.C1093R	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1230	Extracellular (Potential).|LDL-receptor class A 13.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCTGAGTGGCACATACCAGGA	0.453													G	170097855	A	G	170097855	3	3	27	1	0	0	0	0	1	0	0	0	8956	159	6	3	10499	3	LRP2	2	170097855	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	31706	170097855	73101518	1223	25174											
LRP2	4036	broad.mit.edu	37	chr2	170115570	170115570	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actaccaccgaccgtgggttAtttaaatactgaactactgt	7	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:170115570A>C	uc002ues.2	-	17	2691	c.2478T>G	c.(2476-2478)AAT>AAG	p.N826K	LRP2_uc010zdf.1_Missense_Mutation_p.N689K	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	826	LDL-receptor class B 7.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACCGTGGGTTATTTAAATACT	0.398													C	170115570	A	C	170115570	3	2	27	1	0	0	0	0	1	0	0	0	8956	446	16	5	11741	5	LRP2	2	170115570	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	17715	170115570	73083803	1224	25175											
LRP2	4036	broad.mit.edu	37	chr2	170135946	170135946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcagttataagggtaacccGatagcttccatccaaattta	6	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:170135946G>A	uc002ues.2	-	12	1714	c.1501C>T	c.(1501-1503)CGG>TGG	p.R501W	LRP2_uc010zdf.1_Missense_Mutation_p.R501W	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	501	LDL-receptor class B 2.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGGGTAACCCGATAGCTTCCA	0.418													A	170135946	G	A	170135946	3	1	27	1	0	0	0	0	1	0	0	0	8956	1057	37	1	12738	1	LRP2	2	170135946	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	20376	170135946	73063427	1225	25176											
UBR3	130507	broad.mit.edu	37	chr2	170936326	170936326	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttggataatgttttaggcCttgcttatccaagagtcaaa	8	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:170936326C>A	uc010zdi.1	+	37	5202	c.5202C>A	c.(5200-5202)GCC>GCA	p.A1734A	UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Silent_p.A555A|UBR3_uc002uft.3_Silent_p.A591A|UBR3_uc010zdj.1_Silent_p.A425A|UBR3_uc002ufu.3_Silent_p.A240A	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	E3 ubiquitin-protein ligase UBR3	1734					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0						TGTTTTAGGCCTTGCTTATCC	0.299													A	170936326	C	A	170936326	2	1	27	1	0	0	0	0	0	0	0	1	16900	668	24	5		5	UBR3	2	170936326	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	800380	170936326	72263047	1226	25177											
MYO3B	140469	broad.mit.edu	37	chr2	171256774	171256774	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcgcagctatttcctctcAacatcagactgataaaagtg	7	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:171256774A>G	uc002ufy.2	+	17	2011	c.1868A>G	c.(1867-1869)CAA>CGA	p.Q623R	MYO3B_uc002ufv.2_Missense_Mutation_p.Q610R|MYO3B_uc010fqb.1_Missense_Mutation_p.Q610R|MYO3B_uc002ufz.2_Missense_Mutation_p.Q623R|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	623	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						ATTTCCTCTCAACATCAGACT	0.413													G	171256774	A	G	171256774	3	3	27	1	0	0	0	0	1	0	0	0	10077	130	5	3	1934	3	MYO3B	2	171256774	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	320448	171256774	71942599	1227	25178											
GAD1	2571	broad.mit.edu	37	chr2	171702573	171702573	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attcttgaagccaaacagaaGgtatgtactccgtggtgcat	10	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:171702573G>T	uc002ugi.2	+	10	1424	c.1002G>T	c.(1000-1002)AAG>AAT	p.K334N		NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	334					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCAAACAGAAGGTATGTACTC	0.353													T	171702573	G	T	171702573	3	4	27	1	0	0	0	0	1	0	0	0	6179	1014	35	5	1077	5	GAD1	2	171702573	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	445799	171702573	71496800	1228	25179											
DCAF17	80067	broad.mit.edu	37	chr2	172330389	172330389	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttcaggcaaaaaatgggaTccaagaaatggattgttgtt	10	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:172330389T>A	uc002ugx.2	+	10	1224	c.995T>A	c.(994-996)ATC>AAC	p.I332N	DCAF17_uc010zdq.1_RNA|DCAF17_uc010fqf.1_Intron|DCAF17_uc010zdr.1_RNA|DCAF17_uc010fqg.2_Missense_Mutation_p.I52N	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17 isoform 1	332						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus					0						AAAAATGGGATCCAAGAAATG	0.343													A	172330389	T	A	172330389	3	1	27	1	0	0	0	0	1	0	0	0	4269	1435	50	5	1033	5	DCAF17	2	172330389	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	627816	172330389	70868984	1229	25180											
PDK1	5163	broad.mit.edu	37	chr2	173457701	173457701	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcccatatcacgtctttaCgcacaatacttccaaggaga	6	12	2	1	rs138447627		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:173457701C>T	uc002uhr.2	+	10	1195	c.1095C>T	c.(1093-1095)TAC>TAT	p.Y365Y	PDK1_uc010zdz.1_Silent_p.Y210Y|PDK1_uc010zea.1_RNA|PDK1_uc002uhq.1_Silent_p.Y385Y|PDK1_uc002uhs.2_Silent_p.Y365Y|PDK1_uc010zeb.1_Silent_p.Y385Y	NM_002610	NP_002601	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase 1 precursor	365	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			lung(3)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.12)			CACGTCTTTACGCACAATACT	0.378									Autosomal_Dominant_Polycystic_Kidney_Disease				T	173457701	C	T	173457701	2	4	27	1	0	0	0	0	0	0	0	1	11675	547	19	1		1	PDK1	2	173457701	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1127312	173457701	69741672	1230	25181											
RAPGEF4	11069	broad.mit.edu	37	chr2	173891823	173891823	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttctagctggagctaatctaTcacacatttggaaggcataa	8	8	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:173891823T>A	uc002uhv.3	+	25	2581	c.2394T>A	c.(2392-2394)TAT>TAA	p.Y798*	RAPGEF4_uc002uhw.3_Nonsense_Mutation_p.Y654*	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	798	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)			AGCTAATCTATCACACATTTG	0.328													A	173891823	T	A	173891823	4	1	27	1	0	0	0	0	0	1	0	0	13046	1442	50	5	2508	5	RAPGEF4	2	173891823	Nonsense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	434122	173891823	69307550	1231	25182											
ZAK	51776	broad.mit.edu	37	chr2	173955868	173955868	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttatcgagccaaatggataTcacaggacaaggaggtggct	12	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:173955868T>A	uc002uhz.2	+	2	309	c.109T>A	c.(109-111)TCA>ACA	p.S37T	ZAK_uc002uhx.2_Missense_Mutation_p.S37T|ZAK_uc002uhy.2_Missense_Mutation_p.S37T|ZAK_uc010zei.1_Intron|ZAK_uc002uia.1_Missense_Mutation_p.S37T	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	37	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)			CAAATGGATATCACAGGACAA	0.418													A	173955868	T	A	173955868	3	1	27	1	0	0	0	0	1	0	0	0	17509	1435	50	5	111	5	ZAK	2	173955868	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	64045	173955868	69243505	1232	25183											
ZAK	51776	broad.mit.edu	37	chr2	174130855	174130855	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttacagcgttcccagagcAatcctattctggggtcaccg	9	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:174130855A>G	uc002uhz.2	+	20	1980	c.1780A>G	c.(1780-1782)AAT>GAT	p.N594D	uc002uib.2_Intron	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	594					activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)			TTCCCAGAGCAATCCTATTCT	0.512													G	174130855	A	G	174130855	3	3	27	1	0	0	0	0	1	0	0	0	17509	130	5	3	2239	3	ZAK	2	174130855	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	174987	174130855	69068518	1233	25184											
ZAK	51776	broad.mit.edu	37	chr2	174131092	174131092	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcagagaggggtcgaTactcagacagaagcaggaac	12	10	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:174131092T>A	uc002uhz.2	+	20	2217	c.2017T>A	c.(2017-2019)TAC>AAC	p.Y673N	uc002uib.2_Intron	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	673					activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)			GAGGGGTCGATACTCAGACAG	0.453													A	174131092	T	A	174131092	3	1	27	1	0	0	0	0	1	0	0	0	17509	1406	49	5	2476	5	ZAK	2	174131092	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	237	174131092	69068281	1234	25185											
CDCA7	83879	broad.mit.edu	37	chr2	174229673	174229673	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaggaggaagaggataagTacatgttggtgagaaagagg	18	1	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:174229673T>C	uc002uid.1	+	5	744	c.613T>C	c.(613-615)TAC>CAC	p.Y205H	CDCA7_uc002uic.1_Missense_Mutation_p.Y284H|CDCA7_uc010zej.1_Missense_Mutation_p.Y240H|CDCA7_uc010zek.1_Missense_Mutation_p.Y163H	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7 isoform 2	205					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.116)			AGAGGATAAGTACATGTTGGT	0.532													C	174229673	T	C	174229673	3	2	27	1	0	0	0	0	1	0	0	0	3090	1638	57	3	872	3	CDCA7	2	174229673	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	98581	174229673	68969700	1235	25186											
CIR1	9541	broad.mit.edu	37	chr2	175246441	175246441	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagataagtaccttttttagCtcctggtggggcttcataca	9	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:175246441C>A	uc002uim.2	-	3	325	c.232G>T	c.(232-234)GCT>TCT	p.A78S	CIR1_uc002uin.2_5'UTR|CIR1_uc002uio.2_5'UTR|CIR1_uc002uip.2_5'UTR	NM_004882	NP_004873	Q86X95	CIR1_HUMAN	CBF1 interacting corepressor	78	Interaction with RBPJ.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			large_intestine(1)	1						CCTTTTTTAGCTCCTGGTGGG	0.234													A	175246441	C	A	175246441	3	1	27	1	0	0	0	0	1	0	0	0	3432	797	28	5	1152	5	CIR1	2	175246441	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1016768	175246441	67952932	1236	25187											
GPR155	151556	broad.mit.edu	37	chr2	175326315	175326315	+	Splice_Site	DEL	C	C	-													aacagagaactaccaacttaCccccagccagatattatgat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:175326314_175326314AC>A	uc002uit.3	-	9	1860	c.1469_splice	c.e9+1	p.G490_splice	GPR155_uc002uiu.3_Splice_Site_p.G490_splice|GPR155_uc002uiv.3_Splice_Site_p.G490_splice|GPR155_uc010fqs.3_Splice_Site_p.G462_splice	NM_001033045	NP_689742	Q7Z3F1	GP155_HUMAN	Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.	490					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CTACCAACTTACCCCCAGCCA	0.363													-	175326315	C	-	175326315	8	5	27	1	0	1	0	1	0	0	1	0	6660	521	18	0	1178	0	GPR155	2	175326315	Splice_Site	DEL	C	TCGA-BR-6452-01A-12D-1800-08	79874	175326315	67873058	1237	25188											
CHN1	1123	broad.mit.edu	37	chr2	175676303	175676303	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgatactcggtatagtccTtcagaattaagacctgaaaa	7	9	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:175676303T>C	uc002uji.2	-	10	1430	c.900A>G	c.(898-900)GAA>GAG	p.E300E	CHN1_uc010zeq.1_Silent_p.E274E|CHN1_uc002ujj.2_Silent_p.E75E|CHN1_uc002ujg.2_Silent_p.E175E	NM_001822	NP_001813	P15882	CHIN_HUMAN	chimerin (chimaerin) 1 isoform a	300	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.226)			GGTATAGTCCTTCAGAATTAA	0.348			T	TAF15	extraskeletal myxoid chondrosarcoma								C	175676303	T	C	175676303	2	2	27	1	0	0	0	0	0	0	0	1	3362	1606	56	3		3	CHN1	2	175676303	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	349988	175676303	67523070	1238	25189											
ATP5G3	518	broad.mit.edu	37	chr2	176046086	176046086	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgggctacgcaccagAgagggggtgcaggcgagctt	17	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:176046086A>T	uc002ujz.3	-	1	306	c.36T>A	c.(34-36)TCT>TCA	p.S12S	ATP5G3_uc002uka.3_Silent_p.S12S|ATP5G3_uc002ukb.1_Silent_p.S12S	NM_001002258	NP_001002258	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	12					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.147)			TACGCACCAGAGAGGGGGTGC	0.652													T	176046086	A	T	176046086	2	4	27	1	0	0	0	0	0	0	0	1	1155	291	11	5		5	ATP5G3	2	176046086	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	369783	176046086	67153287	1239	25190											
HOXD8	3234	broad.mit.edu	37	chr2	176995452	176995452	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcatcctccgcctccgccgCcacctcccccctgcggcggg	10	24	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:176995452C>G	uc002uko.2	+	1	976	c.358C>G	c.(358-360)CCA>GCA	p.P120A	uc002ukl.1_5'Flank|uc002ukm.1_5'Flank|HOXD8_uc002ukn.2_Intron|HOXD8_uc002ukp.2_Missense_Mutation_p.P120A	NM_019558	NP_062458	P13378	HXD8_HUMAN	homeobox D8	120	Poly-Pro.				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		gcctccgccgccacctccccc	0.498													G	176995452	C	G	176995452	3	3	27	1	0	0	0	0	1	0	0	0	7325	739	26	5	360	5	HOXD8	2	176995452	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	949366	176995452	66203921	1240	25191											
MTX2	10651	broad.mit.edu	37	chr2	177202275	177202275	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatacaccattcttaccacAcaattgacaaatgatgaact	3	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:177202275A>G	uc002ukx.2	+	10	910	c.675A>G	c.(673-675)ACA>ACG	p.T225T	MTX2_uc002ukw.2_Silent_p.T215T	NM_006554	NP_006545	O75431	MTX2_HUMAN	metaxin 2	225					protein targeting to mitochondrion	mitochondrial outer membrane				ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			TTCTTACCACACAATTGACAA	0.373													G	177202275	A	G	177202275	2	3	27	1	0	0	0	0	0	0	0	1	9968	146	6	3		3	MTX2	2	177202275	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	206823	177202275	65997098	1241	25192											
TTC30B	150737	broad.mit.edu	37	chr2	178416839	178416839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagggtgctggcggatgCcacgctcaataatctcagcg	13	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:178416839C>T	uc002uln.2	-	1	686	c.653G>A	c.(652-654)GGC>GAC	p.G218D	TTC30B_uc010zfc.1_5'UTR	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	218	TPR 4.				cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTGGCGGATGCCACGCTCAAT	0.542													T	178416839	C	T	178416839	3	4	27	1	0	0	0	0	1	0	0	0	16696	739	26	2	1348	2	TTC30B	2	178416839	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1214564	178416839	64782534	1242	25193											
OSBPL6	114880	broad.mit.edu	37	chr2	179201135	179201135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcctggttacaggactcGgaagagatggacaggtgtgc	16	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179201135G>A	uc002ulx.2	+	9	1143	c.765G>A	c.(763-765)TCG>TCA	p.S255S	OSBPL6_uc002ulw.2_Silent_p.S255S|OSBPL6_uc002uly.2_Silent_p.S255S|OSBPL6_uc010zfe.1_Silent_p.S255S|OSBPL6_uc002ulz.2_Silent_p.S255S|OSBPL6_uc002uma.2_Silent_p.S234S	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	255					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TACAGGACTCGGAAGAGATGG	0.507													A	179201135	G	A	179201135	2	1	27	1	0	0	0	0	0	0	0	1	11281	1103	39	1		1	OSBPL6	2	179201135	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	784296	179201135	63998238	1243	25194											
DFNB59	494513	broad.mit.edu	37	chr2	179325710	179325710	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttttgtccttttagaTagaagagtgatggatgtcat	10	4	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179325710T>C	uc002umi.3	+	7	1124	c.768T>C	c.(766-768)AAT>AAC	p.N256N	DFNB59_uc002umj.3_Silent_p.N256N	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	256					sensory perception of sound						0			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TCCTTTTAGATAGAAGAGTGA	0.323													C	179325710	T	C	179325710	2	2	27	1	0	0	0	0	0	0	0	1	4456	1420	49	3		3	DFNB59	2	179325710	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	124575	179325710	63873663	1244	25195											
FKBP7	51661	broad.mit.edu	37	chr2	179334426	179334426	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtccatgtctatttgtttaaAtgtctcaatgctccgtggtc	8	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179334426A>T	uc002umk.2	-	3	589	c.460T>A	c.(460-462)TTT>ATT	p.F154I	FKBP7_uc002umm.2_Missense_Mutation_p.F153I|FKBP7_uc002uml.2_RNA|FKBP7_uc010zff.1_Intron	NM_181342	NP_851939	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7 isoform a precursor	191	EF-hand 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			ATTTGTTTAAATGTCTCAATG	0.368													T	179334426	A	T	179334426	3	4	27	1	0	0	0	0	1	0	0	0	5913	101	4	5	216	5	FKBP7	2	179334426	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	8716	179334426	63864947	1245	25196											
TTN	7273	broad.mit.edu	37	chr2	179393421	179393421	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatcatactgacacttgAcgattccttccttggttttg	6	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179393421A>G	uc010zfg.1	-	309	99577	c.99353T>C	c.(99352-99354)GTC>GCC	p.V33118A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V26813A|TTN_uc010zfi.1_Missense_Mutation_p.V26746A|TTN_uc010zfj.1_Missense_Mutation_p.V26621A|TTN_uc002umq.2_Missense_Mutation_p.V135A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	34045							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGACACTTGACGATTCCTTC	0.438													G	179393421	A	G	179393421	3	3	27	1	0	0	0	0	1	0	0	0	16732	275	10	3	934	3	TTN	2	179393421	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	58995	179393421	63805952	1246	25197											
TTN	7273	broad.mit.edu	37	chr2	179395728	179395728	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgtttcccttcactgTtttctaccaccacgctgtaa	4	14	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179395728T>C	uc010zfg.1	-	307	98134	c.97910A>G	c.(97909-97911)AAC>AGC	p.N32637S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N26332S|TTN_uc010zfi.1_Missense_Mutation_p.N26265S|TTN_uc010zfj.1_Missense_Mutation_p.N26140S|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33564							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCTTCACTGTTTTCTACCAC	0.483													C	179395728	T	C	179395728	3	2	27	1	0	0	0	0	1	0	0	0	16732	1725	60	3	2385	3	TTN	2	179395728	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2307	179395728	63803645	1247	25198											
TTN	7273	broad.mit.edu	37	chr2	179402473	179402473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactgtaagagtgtgtgtgCgtccatctgaagacattttg	11	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179402473C>T	uc010zfg.1	-	304	91981	c.91757G>A	c.(91756-91758)CGC>CAC	p.R30586H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R24281H|TTN_uc010zfi.1_Missense_Mutation_p.R24214H|TTN_uc010zfj.1_Missense_Mutation_p.R24089H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31513							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGTGTGTGCGTCCATCTGA	0.423													T	179402473	C	T	179402473	3	4	27	1	0	0	0	0	1	0	0	0	16732	768	27	1	8550	1	TTN	2	179402473	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6745	179402473	63796900	1248	25199											
TTN	7273	broad.mit.edu	37	chr2	179404321	179404321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctaagatgtcagcaccaCcatcatcagcaggaggtctc	9	13	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179404321C>T	uc010zfg.1	-	301	90991	c.90767G>A	c.(90766-90768)GGT>GAT	p.G30256D	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G23951D|TTN_uc010zfi.1_Missense_Mutation_p.G23884D|TTN_uc010zfj.1_Missense_Mutation_p.G23759D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31183							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCAGCACCACCATCATCAGC	0.527													T	179404321	C	T	179404321	3	4	27	1	0	0	0	0	1	0	0	0	16732	507	18	4	9552	4	TTN	2	179404321	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1848	179404321	63795052	1249	25200											
TTN	7273	broad.mit.edu	37	chr2	179404632	179404632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtatggtaagtctgatgacGccaccttgccttacaaagat	10	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179404632G>A	uc010zfg.1	-	301	90680	c.90456C>T	c.(90454-90456)GGC>GGT	p.G30152G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G23847G|TTN_uc010zfi.1_Silent_p.G23780G|TTN_uc010zfj.1_Silent_p.G23655G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31079							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTGATGACGCCACCTTGCC	0.393													A	179404632	G	A	179404632	2	1	27	1	0	0	0	0	0	0	0	1	16732	1074	38	1		1	TTN	2	179404632	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	311	179404632	63794741	1250	25201											
TTN	7273	broad.mit.edu	37	chr2	179412969	179412969	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccaagctaagactgcggaGgatttgctagtatcaacaac	10	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179412969G>T	uc010zfg.1	-	288	85904	c.85680C>A	c.(85678-85680)TCC>TCA	p.S28560S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S22255S|TTN_uc010zfi.1_Silent_p.S22188S|TTN_uc010zfj.1_Silent_p.S22063S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29487							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGACTGCGGAGGATTTGCTAG	0.493													T	179412969	G	T	179412969	2	4	27	1	0	0	0	0	0	0	0	1	16732	987	35	5		5	TTN	2	179412969	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	8337	179412969	63786404	1251	25202											
TTN	7273	broad.mit.edu	37	chr2	179414486	179414486	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgtttttcaatgatgtAgtgggttatgggagcacaac	11	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179414486A>G	uc010zfg.1	-	287	84483	c.84259T>C	c.(84259-84261)TAC>CAC	p.Y28087H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y21782H|TTN_uc010zfi.1_Missense_Mutation_p.Y21715H|TTN_uc010zfj.1_Missense_Mutation_p.Y21590H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29014							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAATGATGTAGTGGGTTATG	0.443													G	179414486	A	G	179414486	3	3	27	1	0	0	0	0	1	0	0	0	16732	420	15	3	16116	3	TTN	2	179414486	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1517	179414486	63784887	1252	25203											
TTN	7273	broad.mit.edu	37	chr2	179414849	179414849	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtacgtcggttatttccatAttcatcctcttttcgatttc	5	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179414849A>G	uc010zfg.1	-	286	84236	c.84012T>C	c.(84010-84012)AAT>AAC	p.N28004N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.N21699N|TTN_uc010zfi.1_Silent_p.N21632N|TTN_uc010zfj.1_Silent_p.N21507N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28931							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTATTTCCATATTCATCCTCT	0.448													G	179414849	A	G	179414849	2	3	27	1	0	0	0	0	0	0	0	1	16732	446	16	3		3	TTN	2	179414849	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	363	179414849	63784524	1253	25204											
TTN	7273	broad.mit.edu	37	chr2	179414978	179414978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccatcaaagtattcaggGccaaactctactattggtgg	9	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179414978G>A	uc010zfg.1	-	286	84107	c.83883C>T	c.(83881-83883)GGC>GGT	p.G27961G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G21656G|TTN_uc010zfi.1_Silent_p.G21589G|TTN_uc010zfj.1_Silent_p.G21464G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28888							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTATTCAGGGCCAAACTCTA	0.353													A	179414978	G	A	179414978	2	1	27	1	0	0	0	0	0	0	0	1	16732	1190	42	2		2	TTN	2	179414978	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	129	179414978	63784395	1254	25205											
TTN	7273	broad.mit.edu	37	chr2	179417047	179417047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctccatgctccttcttggCattcttaatactcaaagtaa	4	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179417047C>T	uc010zfg.1	-	284	83100	c.82876G>A	c.(82876-82878)GCC>ACC	p.A27626T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A21321T|TTN_uc010zfi.1_Missense_Mutation_p.A21254T|TTN_uc010zfj.1_Missense_Mutation_p.A21129T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28553							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTCTTGGCATTCTTAATA	0.398													T	179417047	C	T	179417047	3	4	27	1	0	0	0	0	1	0	0	0	16732	710	25	2	17511	2	TTN	2	179417047	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2069	179417047	63782326	1255	25206											
TTN	7273	broad.mit.edu	37	chr2	179418786	179418786	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcacggatagtctctttTagtactttaaaccatcctag	7	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179418786T>C	uc010zfg.1	-	282	81572	c.81348A>G	c.(81346-81348)CTA>CTG	p.L27116L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L20811L|TTN_uc010zfi.1_Silent_p.L20744L|TTN_uc010zfj.1_Silent_p.L20619L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28043							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGTCTCTTTTAGTACTTTAA	0.433													C	179418786	T	C	179418786	2	2	27	1	0	0	0	0	0	0	0	1	16732	1741	61	3		3	TTN	2	179418786	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1739	179418786	63780587	1256	25207											
TTN	7273	broad.mit.edu	37	chr2	179419597	179419597	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtattcagcacctaccaaggAtctgtactctgatggtggct	10	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179419597A>T	uc010zfg.1	-	280	81109	c.80885T>A	c.(80884-80886)ATC>AAC	p.I26962N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I20657N|TTN_uc010zfi.1_Missense_Mutation_p.I20590N|TTN_uc010zfj.1_Missense_Mutation_p.I20465N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27889							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTACCAAGGATCTGTACTCT	0.398													T	179419597	A	T	179419597	3	4	27	1	0	0	0	0	1	0	0	0	16732	333	12	5	19518	5	TTN	2	179419597	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	811	179419597	63779776	1257	25208											
TTN	7273	broad.mit.edu	37	chr2	179425685	179425685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttctataccatccttggCccaggaaattactggcagag	8	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179425685C>T	uc010zfg.1	-	275	77694	c.77470G>A	c.(77470-77472)GCC>ACC	p.A25824T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A19519T|TTN_uc010zfi.1_Missense_Mutation_p.A19452T|TTN_uc010zfj.1_Missense_Mutation_p.A19327T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26751							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATCCTTGGCCCAGGAAATT	0.413													T	179425685	C	T	179425685	3	4	27	1	0	0	0	0	1	0	0	0	16732	739	26	2	22953	2	TTN	2	179425685	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6088	179425685	63773688	1258	25209											
TTN	7273	broad.mit.edu	37	chr2	179428522	179428522	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caattccatatttattcacaGccatgacacggaaaatgtac	5	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179428522G>T	uc010zfg.1	-	275	74857	c.74633C>A	c.(74632-74634)GCT>GAT	p.A24878D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A18573D|TTN_uc010zfi.1_Missense_Mutation_p.A18506D|TTN_uc010zfj.1_Missense_Mutation_p.A18381D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25805							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTATTCACAGCCATGACACG	0.468													T	179428522	G	T	179428522	3	4	27	1	0	0	0	0	1	0	0	0	16732	971	34	5	25790	5	TTN	2	179428522	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2837	179428522	63770851	1259	25210											
TTN	7273	broad.mit.edu	37	chr2	179429031	179429031	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttatattttggatccagAgaggcatttggtgcatcaat	9	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179429031A>C	uc010zfg.1	-	275	74348	c.74124T>G	c.(74122-74124)TCT>TCG	p.S24708S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S18403S|TTN_uc010zfi.1_Silent_p.S18336S|TTN_uc010zfj.1_Silent_p.S18211S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25635							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGATCCAGAGAGGCATTTG	0.408													C	179429031	A	C	179429031	2	2	27	1	0	0	0	0	0	0	0	1	16732	291	11	5		5	TTN	2	179429031	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	509	179429031	63770342	1260	25211											
TTN	7273	broad.mit.edu	37	chr2	179432851	179432851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtatgaccatggagtctttgGaaatggctgtggcaaatggt	14	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179432851G>A	uc010zfg.1	-	275	70528	c.70304C>T	c.(70303-70305)TCC>TTC	p.S23435F	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S17130F|TTN_uc010zfi.1_Missense_Mutation_p.S17063F|TTN_uc010zfj.1_Missense_Mutation_p.S16938F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24362							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAGTCTTTGGAAATGGCTGT	0.453													A	179432851	G	A	179432851	3	1	27	1	0	0	0	0	1	0	0	0	16732	1174	41	4	30119	4	TTN	2	179432851	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3820	179432851	63766522	1261	25212											
TTN	7273	broad.mit.edu	37	chr2	179437140	179437140	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttccaggaagtcttgtgGcagtttgttgcaacagttga	11	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179437140G>A	uc010zfg.1	-	275	66239	c.66015C>T	c.(66013-66015)TGC>TGT	p.C22005C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.C15700C|TTN_uc010zfi.1_Silent_p.C15633C|TTN_uc010zfj.1_Silent_p.C15508C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22932							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTCTTGTGGCAGTTTGTTG	0.438													A	179437140	G	A	179437140	2	1	27	1	0	0	0	0	0	0	0	1	16732	1195	42	2		2	TTN	2	179437140	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4289	179437140	63762233	1262	25213											
TTN	7273	broad.mit.edu	37	chr2	179437289	179437289	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttttaccttcagatcctGtggggggcctggtgtatcga	12	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179437289G>A	uc010zfg.1	-	275	66090	c.65866C>T	c.(65866-65868)CAG>TAG	p.Q21956*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.Q15651*|TTN_uc010zfi.1_Nonsense_Mutation_p.Q15584*|TTN_uc010zfj.1_Nonsense_Mutation_p.Q15459*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22883							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGATCCTGTGGGGGGCCT	0.423													A	179437289	G	A	179437289	4	1	27	1	0	0	0	0	0	1	0	0	16732	1386	48	4	34557	4	TTN	2	179437289	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	149	179437289	63762084	1263	25214											
TTN	7273	broad.mit.edu	37	chr2	179442036	179442036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcatcttttctagtggcaTacttgatagtaagcatggaa	9	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179442036T>C	uc010zfg.1	-	273	61546	c.61322A>G	c.(61321-61323)TAT>TGT	p.Y20441C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y14136C|TTN_uc010zfi.1_Missense_Mutation_p.Y14069C|TTN_uc010zfj.1_Missense_Mutation_p.Y13944C|uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21368							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTAGTGGCATACTTGATAGT	0.428													C	179442036	T	C	179442036	3	2	27	1	0	0	0	0	1	0	0	0	16732	1406	49	3	39109	3	TTN	2	179442036	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4747	179442036	63757337	1264	25215											
TTN	7273	broad.mit.edu	37	chr2	179447037	179447037	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctaccatatgggtttttgGcaattgctggttcagtgaag	11	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179447037G>T	uc010zfg.1	-	263	58666	c.58442C>A	c.(58441-58443)GCC>GAC	p.A19481D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A13176D|TTN_uc010zfi.1_Missense_Mutation_p.A13109D|TTN_uc010zfj.1_Missense_Mutation_p.A12984D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20408							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGTTTTTGGCAATTGCTGG	0.368													T	179447037	G	T	179447037	3	4	27	1	0	0	0	0	1	0	0	0	16732	1203	42	5	42029	5	TTN	2	179447037	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5001	179447037	63752336	1265	25216											
TTN	7273	broad.mit.edu	37	chr2	179456053	179456053	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttaatggtaagtactgaTgagaagttgtctgtttcaac	9	5	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179456053T>C	uc010zfg.1	-	253	52919	c.52695A>G	c.(52693-52695)TCA>TCG	p.S17565S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S11260S|TTN_uc010zfi.1_Silent_p.S11193S|TTN_uc010zfj.1_Silent_p.S11068S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18492							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAGTACTGATGAGAAGTTGT	0.428													C	179456053	T	C	179456053	2	2	27	1	0	0	0	0	0	0	0	1	16732	1451	51	3		3	TTN	2	179456053	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9016	179456053	63743320	1266	25217											
TTN	7273	broad.mit.edu	37	chr2	179456447	179456447	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtccagtaaccacacactcTaagtttgtcacagtcttaaa	5	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179456447T>C	uc010zfg.1	-	252	52619	c.52395A>G	c.(52393-52395)TTA>TTG	p.L17465L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L11160L|TTN_uc010zfi.1_Silent_p.L11093L|TTN_uc010zfj.1_Silent_p.L10968L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18392							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACACACTCTAAGTTTGTCA	0.433													C	179456447	T	C	179456447	2	2	27	1	0	0	0	0	0	0	0	1	16732	1519	53	3		3	TTN	2	179456447	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	394	179456447	63742926	1267	25218											
TTN	7273	broad.mit.edu	37	chr2	179457902	179457902	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatccattaatactataccaAttggatctttagcaaagact	4	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179457902A>G	uc010zfg.1	-	248	51553	c.51329T>C	c.(51328-51330)ATT>ACT	p.I17110T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I10805T|TTN_uc010zfi.1_Missense_Mutation_p.I10738T|TTN_uc010zfj.1_Missense_Mutation_p.I10613T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18037							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTATACCAATTGGATCTTT	0.328													G	179457902	A	G	179457902	3	3	27	1	0	0	0	0	1	0	0	0	16732	101	4	3	49202	3	TTN	2	179457902	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1455	179457902	63741471	1268	25219											
TTN	7273	broad.mit.edu	37	chr2	179462392	179462392	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctaatggctgtggtctcAatggtggcttcttgaggtaa	14	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179462392A>G	uc010zfg.1	-	243	49937	c.49713T>C	c.(49711-49713)ATT>ATC	p.I16571I	uc002umo.2_RNA|uc002ump.1_RNA|TTN_uc010zfh.1_Silent_p.I10266I|TTN_uc010zfi.1_Silent_p.I10199I|TTN_uc010zfj.1_Silent_p.I10074I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17498							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTGGTCTCAATGGTGGCTT	0.488													G	179462392	A	G	179462392	2	3	27	1	0	0	0	0	0	0	0	1	16732	126	5	3		3	TTN	2	179462392	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4490	179462392	63736981	1269	25220											
TTN	7273	broad.mit.edu	37	chr2	179463262	179463262	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttttccttcttcttTatattcaacgatgtatccag	3	10	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179463262T>C	uc010zfg.1	-	241	49602	c.49378A>G	c.(49378-49380)AAA>GAA	p.K16460E	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K10155E|TTN_uc010zfi.1_Missense_Mutation_p.K10088E|TTN_uc010zfj.1_Missense_Mutation_p.K9963E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17387							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTCTTCTTTATATTCAACG	0.378													C	179463262	T	C	179463262	3	2	27	1	0	0	0	0	1	0	0	0	16732	1763	61	3	50895	3	TTN	2	179463262	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	870	179463262	63736111	1270	25221											
TTN	7273	broad.mit.edu	37	chr2	179463329	179463329	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggggagaccactccagatcTgcagatgatttagtccaatc	11	10	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179463329T>C	uc010zfg.1	-	241	49535	c.49311A>G	c.(49309-49311)GCA>GCG	p.A16437A	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A10132A|TTN_uc010zfi.1_Silent_p.A10065A|TTN_uc010zfj.1_Silent_p.A9940A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17364							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCCAGATCTGCAGATGATT	0.433													C	179463329	T	C	179463329	2	2	27	1	0	0	0	0	0	0	0	1	16732	1567	55	3		3	TTN	2	179463329	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	67	179463329	63736044	1271	25222											
TTN	7273	broad.mit.edu	37	chr2	179464134	179464134	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catttgatctgctgaaacagAttcaaattttatgggtccca	7	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179464134A>G	uc010zfg.1	-	239	48906	c.48682T>C	c.(48682-48684)TCT>CCT	p.S16228P	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S9923P|TTN_uc010zfi.1_Missense_Mutation_p.S9856P|TTN_uc010zfj.1_Missense_Mutation_p.S9731P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17155							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGAAACAGATTCAAATTTT	0.373													G	179464134	A	G	179464134	3	3	27	1	0	0	0	0	1	0	0	0	16732	333	12	3	51599	3	TTN	2	179464134	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	805	179464134	63735239	1272	25223											
TTN	7273	broad.mit.edu	37	chr2	179475115	179475115	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttgcatggtccaggtagGcctattacaaaaatggataa	9	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179475115G>A	uc010zfg.1	-	220	43658	c.43434C>T	c.(43432-43434)GGC>GGT	p.G14478G	uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G8173G|TTN_uc010zfi.1_Silent_p.G8106G|TTN_uc010zfj.1_Silent_p.G7981G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15405							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCCAGGTAGGCCTATTACAA	0.308													A	179475115	G	A	179475115	2	1	27	1	0	0	0	0	0	0	0	1	16732	1217	42	2		2	TTN	2	179475115	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	10981	179475115	63724258	1273	25224											
TTN	7273	broad.mit.edu	37	chr2	179476574	179476574	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgaacctgaaactggaccTctgttccttcgatgacatca	7	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179476574T>G	uc010zfg.1	-	217	42982	c.42758A>C	c.(42757-42759)GAG>GCG	p.E14253A	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E7948A|TTN_uc010zfi.1_Missense_Mutation_p.E7881A|TTN_uc010zfj.1_Missense_Mutation_p.E7756A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15180							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAACTGGACCTCTGTTCCTTC	0.463													G	179476574	T	G	179476574	3	3	27	1	0	0	0	0	1	0	0	0	16732	1551	54	5	57611	5	TTN	2	179476574	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1459	179476574	63722799	1274	25225											
TTN	7273	broad.mit.edu	37	chr2	179484423	179484423	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accctggtcacggggcttaaTatcacaaatctgtagtcgat	9	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179484423T>A	uc010zfg.1	-	199	39141	c.38917A>T	c.(38917-38919)ATT>TTT	p.I12973F	TTN_uc010zfh.1_Missense_Mutation_p.I6668F|TTN_uc010zfi.1_Missense_Mutation_p.I6601F|TTN_uc010zfj.1_Missense_Mutation_p.I6476F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13900							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGGGGCTTAATATCACAAATC	0.413													A	179484423	T	A	179484423	3	1	27	1	0	0	0	0	1	0	0	0	16732	1406	49	5	61524	5	TTN	2	179484423	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	7849	179484423	63714950	1275	25226											
TTN	7273	broad.mit.edu	37	chr2	179495656	179495656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtgcaggggtcgcaccaGtttaatttcccgatctagaa	10	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179495656G>A	uc010zfg.1	-	187	36549	c.36325C>T	c.(36325-36327)CTG>TTG	p.L12109L	TTN_uc010zfh.1_Silent_p.L5804L|TTN_uc010zfi.1_Silent_p.L5737L|TTN_uc010zfj.1_Silent_p.L5612L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13036							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTCGCACCAGTTTAATTTCC	0.473													A	179495656	G	A	179495656	2	1	27	1	0	0	0	0	0	0	0	1	16732	1020	36	4		4	TTN	2	179495656	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	11233	179495656	63703717	1276	25227											
TTN	7273	broad.mit.edu	37	chr2	179517022	179517022	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcacttcaggctttttaggAggaggcactggcactttctt	12	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179517022A>G	uc010zfg.1	-	157	32102	c.31878T>C	c.(31876-31878)CCT>CCC	p.P10626P	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11553							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTTTTAGGAGGAGGCACTG	0.393													G	179517022	A	G	179517022	2	3	27	1	0	0	0	0	0	0	0	1	16732	291	11	3		3	TTN	2	179517022	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	21366	179517022	63682351	1277	25228											
TTN	7273	broad.mit.edu	37	chr2	179542934	179542934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttcttgggcacctctggCactttaaagatattatttat	7	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179542934C>T	uc010zfg.1	-	142	30404	c.30180G>A	c.(30178-30180)GTG>GTA	p.V10060V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V6721V|TTN_uc010fre.1_Silent_p.V717V|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10987							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACCTCTGGCACTTTAAAGA	0.338													T	179542934	C	T	179542934	2	4	27	1	0	0	0	0	0	0	0	1	16732	724	25	2		2	TTN	2	179542934	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	25912	179542934	63656439	1278	25229											
TTN	7273	broad.mit.edu	37	chr2	179547450	179547450	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtattcttcatgctcttcaTatcgttcatactcccgctcc	4	14	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179547450T>G	uc010zfg.1	-	132	29560	c.29336A>C	c.(29335-29337)TAT>TCT	p.Y9779S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Y6440S|TTN_uc010fre.1_Missense_Mutation_p.Y626S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10706							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCTCTTCATATCGTTCATA	0.318													G	179547450	T	G	179547450	3	3	27	1	0	0	0	0	1	0	0	0	16732	1406	49	5	71373	5	TTN	2	179547450	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4516	179547450	63651923	1279	25230											
TTN	7273	broad.mit.edu	37	chr2	179554557	179554557	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctttagctgggggagctTcctttttctttgcaacagga	10	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179554557T>C	uc010zfg.1	-	119	28321	c.28097A>G	c.(28096-28098)GAA>GGA	p.E9366G	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6027G|TTN_uc010fre.1_Missense_Mutation_p.E477G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10293							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGGGAGCTTCCTTTTTCTT	0.388													C	179554557	T	C	179554557	3	2	27	1	0	0	0	0	1	0	0	0	16732	1783	62	3	72664	3	TTN	2	179554557	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	7107	179554557	63644816	1280	25231											
TTN	7273	broad.mit.edu	37	chr2	179571293	179571293	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgttaaatgccacgcatcGgtataacccagaatcagttt	7	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179571293G>A	uc010zfg.1	-	99	25800	c.25576C>T	c.(25576-25578)CGA>TGA	p.R8526*	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.R5187*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9453							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCACGCATCGGTATAACCCA	0.418													A	179571293	G	A	179571293	4	1	27	1	0	0	0	0	0	1	0	0	16732	1124	39	1	75265	1	TTN	2	179571293	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	16736	179571293	63628080	1281	25232											
TTN	7273	broad.mit.edu	37	chr2	179577959	179577959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtctggtatttccttccacTactgatctcatttccttcat	5	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179577959T>C	uc010zfg.1	-	90	23394	c.23170A>G	c.(23170-23172)AGT>GGT	p.S7724G	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4385G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8651							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCTTCCACTACTGATCTCA	0.443													C	179577959	T	C	179577959	3	2	27	1	0	0	0	0	1	0	0	0	16732	1522	53	3	77707	3	TTN	2	179577959	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	6666	179577959	63621414	1282	25233											
TTN	7273	broad.mit.edu	37	chr2	179578862	179578862	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtacaggtgtctcccgtggtAacttttatggattctggctt	11	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179578862A>T	uc010zfg.1	-	89	23015	c.22791T>A	c.(22789-22791)GTT>GTA	p.V7597V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V4258V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8524							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCCGTGGTAACTTTTATGG	0.378													T	179578862	A	T	179578862	2	4	27	1	0	0	0	0	0	0	0	1	16732	349	13	5		5	TTN	2	179578862	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	903	179578862	63620511	1283	25234											
TTN	7273	broad.mit.edu	37	chr2	179578874	179578874	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgtggtaacttttatggaTtctggcttttctacaattgt	8	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179578874T>C	uc010zfg.1	-	89	23003	c.22779A>G	c.(22777-22779)GAA>GAG	p.E7593E	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.E4254E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8520							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTATGGATTCTGGCTTTT	0.383													C	179578874	T	C	179578874	2	2	27	1	0	0	0	0	0	0	0	1	16732	1490	52	3		3	TTN	2	179578874	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	12	179578874	63620499	1284	25235											
TTN	7273	broad.mit.edu	37	chr2	179589031	179589031	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgcttttcccaacattaTtttgaacctggaaagtgtat	7	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179589031T>G	uc010zfg.1	-	69	17563	c.17339A>C	c.(17338-17340)AAT>ACT	p.N5780T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N2441T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6707							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCAACATTATTTTGAACCTG	0.388													G	179589031	T	G	179589031	3	3	27	1	0	0	0	0	1	0	0	0	16732	1493	52	5	83622	5	TTN	2	179589031	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	10157	179589031	63610342	1285	25236											
TTN	7273	broad.mit.edu	37	chr2	179592343	179592343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatcgtagtacaagagtcGctaccaacatcattggtaac	7	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179592343G>A	uc010zfg.1	-	65	16454	c.16230C>T	c.(16228-16230)AGC>AGT	p.S5410S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S2071S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6337							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACAAGAGTCGCTACCAACAT	0.413													A	179592343	G	A	179592343	2	1	27	1	0	0	0	0	0	0	0	1	16732	1078	38	1		1	TTN	2	179592343	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3312	179592343	63607030	1286	25237											
TTN	7273	broad.mit.edu	37	chr2	179594254	179594254	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtcactatattttactAcctccacaggcttcagctct	4	15	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179594254A>G	uc010zfg.1	-	61	15121	c.14897T>C	c.(14896-14898)GTA>GCA	p.V4966A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V1627A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5893							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATTTTACTACCTCCACAGG	0.458													G	179594254	A	G	179594254	3	3	27	1	0	0	0	0	1	0	0	0	16732	391	14	3	86096	3	TTN	2	179594254	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1911	179594254	63605119	1287	25238											
TTN	7273	broad.mit.edu	37	chr2	179594596	179594596	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttaggagtgcctgttatTtggcattcaaatgttgttga	10	4	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179594596T>C	uc010zfg.1	-	60	14876	c.14652A>G	c.(14650-14652)CAA>CAG	p.Q4884Q	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.Q1545Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5811							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCTGTTATTTGGCATTCAA	0.403													C	179594596	T	C	179594596	2	2	27	1	0	0	0	0	0	0	0	1	16732	1838	64	3		3	TTN	2	179594596	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	342	179594596	63604777	1288	25239											
TTN	7273	broad.mit.edu	37	chr2	179595492	179595492	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccattttcttcagctttTtggtgaatgaaggaggtatg	11	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179595492T>C	uc010zfg.1	-	58	14260	c.14036A>G	c.(14035-14037)AAA>AGA	p.K4679R	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K1340R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5606							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCAGCTTTTTGGTGAATGA	0.318													C	179595492	T	C	179595492	3	2	27	1	0	0	0	0	1	0	0	0	16732	1841	64	3	86969	3	TTN	2	179595492	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	896	179595492	63603881	1289	25240											
TTN	7273	broad.mit.edu	37	chr2	179597786	179597786	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagtccagtctgcaggTaccattaacaacactatcca	6	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179597786T>C	uc010zfg.1	-	52	12609	c.12385A>G	c.(12385-12387)ACC>GCC	p.T4129A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T790A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5056							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTCTGCAGGTACCATTAACA	0.463													C	179597786	T	C	179597786	3	2	27	1	0	0	0	0	1	0	0	0	16732	1638	57	3	88644	3	TTN	2	179597786	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2294	179597786	63601587	1290	25241											
TTN	7273	broad.mit.edu	37	chr2	179600589	179600589	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacaagaataaactcctcTatcttgaatggtaaggtttg	7	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179600589T>C	uc010zfg.1	-	47	11076	c.10852A>G	c.(10852-10854)AGA>GGA	p.R3618G	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R279G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4545							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAACTCCTCTATCTTGAATG	0.403													C	179600589	T	C	179600589	3	2	27	1	0	0	0	0	1	0	0	0	16732	1530	53	3	90197	3	TTN	2	179600589	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2803	179600589	63598784	1291	25242											
TTN	7273	broad.mit.edu	37	chr2	179604327	179604327	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtggcatccaaatattTaaccctactttgcacgttaa	7	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179604327T>C	uc010zfh.1	-	46	13344	c.13120A>G	c.(13120-13122)AAA>GAA	p.K4374E	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.K4307E|TTN_uc010zfj.1_Missense_Mutation_p.K4182E|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAAATATTTAACCCTACTT	0.403													C	179604327	T	C	179604327	3	2	27	1	0	0	0	0	1	0	0	0	16732	1763	61	3	91156	3	TTN	2	179604327	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3738	179604327	63595046	1292	25243											
TTN	7273	broad.mit.edu	37	chr2	179610654	179610654	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctttaagaccaattcttcCattaaactgcttaaagtcac	3	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179610654C>A	uc002unb.2	-	46	16697	c.16473G>T	c.(16471-16473)ATG>ATT	p.M5491I	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAATTCTTCCATTAAACTGC	0.408													A	179610654	C	A	179610654	3	1	27	1	0	0	0	0	1	0	0	0	16732	594	21	5	93824	5	TTN	2	179610654	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6327	179610654	63588719	1293	25244											
TTN	7273	broad.mit.edu	37	chr2	179616245	179616245	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcaacctttatcctatcttCtcccctttcaactaaagcct	2	15	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179616245C>A	uc002unb.2	-	46	11106	c.10882G>T	c.(10882-10884)GAA>TAA	p.E3628*	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCTATCTTCTCCCCTTTCA	0.368													A	179616245	C	A	179616245	4	1	27	1	0	0	0	0	0	1	0	0	16732	922	32	5	99415	5	TTN	2	179616245	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5591	179616245	63583128	1294	25245											
TTN	7273	broad.mit.edu	37	chr2	179621295	179621295	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaatttgtgaaagggaTgcagtatggcacaactgtgt	12	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179621295T>C	uc010zfh.1	-	44	10619	c.10395A>G	c.(10393-10395)GCA>GCG	p.A3465A	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGAAAGGGATGCAGTATGGC	0.438													C	179621295	T	C	179621295	2	2	27	1	0	0	0	0	0	0	0	1	16732	1451	51	3		3	TTN	2	179621295	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	5050	179621295	63578078	1295	25246											
TTN	7273	broad.mit.edu	37	chr2	179638678	179638678	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcatatgagattgtttgTctatcacaatgtgaaccctg	9	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179638678T>C	uc010zfg.1	-	31	7441	c.7217A>G	c.(7216-7218)GAC>GGC	p.D2406G	TTN_uc010zfh.1_Missense_Mutation_p.D2360G|TTN_uc010zfi.1_Missense_Mutation_p.D2360G|TTN_uc010zfj.1_Missense_Mutation_p.D2360G|TTN_uc002unb.2_Missense_Mutation_p.D2406G|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2406							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGATTGTTTGTCTATCACAAT	0.478													C	179638678	T	C	179638678	3	2	27	1	0	0	0	0	1	0	0	0	16732	1667	58	3	104099	3	TTN	2	179638678	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	17383	179638678	63560695	1296	25247											
TTN	7273	broad.mit.edu	37	chr2	179642221	179642221	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtccattccccagaaTcactgggtgtggcagggaca	11	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179642221T>A	uc010zfg.1	-	26	4795	c.4571A>T	c.(4570-4572)GAT>GTT	p.D1524V	TTN_uc010zfh.1_Missense_Mutation_p.D1478V|TTN_uc010zfi.1_Missense_Mutation_p.D1478V|TTN_uc010zfj.1_Missense_Mutation_p.D1478V|TTN_uc002unb.2_Missense_Mutation_p.D1524V|uc002unc.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1524							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCCCAGAATCACTGGGTGT	0.378													A	179642221	T	A	179642221	3	1	27	1	0	0	0	0	1	0	0	0	16732	1435	50	5	106765	5	TTN	2	179642221	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3543	179642221	63557152	1297	25248											
CCDC141	285025	broad.mit.edu	37	chr2	179710393	179710393	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atattgtctgcttattttttGctggttcctttagcaagtca	7	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179710393G>C	uc002unf.1	-	12	1766	c.1709C>G	c.(1708-1710)GCA>GGA	p.A570G	CCDC141_uc002une.1_Missense_Mutation_p.A20G	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	570							protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTTATTTTTTGCTGGTTCCTT	0.348													C	179710393	G	C	179710393	3	2	27	1	0	0	0	0	1	0	0	0	2775	1319	46	5	926	5	CCDC141	2	179710393	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	68172	179710393	63488980	1298	25249											
CCDC141	285025	broad.mit.edu	37	chr2	179730575	179730575	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcagctttggcacgccaCttcatgctgtcctcctcaag	7	16	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179730575C>T	uc002unf.1	-	7	975	c.918G>A	c.(916-918)AAG>AAA	p.K306K		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	306	Potential.						protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGGCACGCCACTTCATGCTGT	0.522													T	179730575	C	T	179730575	2	4	27	1	0	0	0	0	0	0	0	1	2775	564	20	4		4	CCDC141	2	179730575	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	20182	179730575	63468798	1299	25250											
SESTD1	91404	broad.mit.edu	37	chr2	179982318	179982318	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagcatctttaaccttcGcacatctaccatgtcttcac	4	14	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:179982318G>A	uc002uni.3	-	14	1615	c.1465C>T	c.(1465-1467)CGA>TGA	p.R489*	SESTD1_uc002unh.3_5'UTR	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	489	Spectrin 2.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTTAACCTTCGCACATCTACC	0.348													A	179982318	G	A	179982318	4	1	27	1	0	0	0	0	0	1	0	0	14127	1095	38	1	645	1	SESTD1	2	179982318	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	251743	179982318	63217055	1300	25251											
CWC22	57703	broad.mit.edu	37	chr2	180815294	180815294	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgctctcttcactggaagaCtctgaactgctatcactgct	7	13	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:180815294C>A	uc010frh.1	-	19	2385	c.2085G>T	c.(2083-2085)GAG>GAT	p.E695D	CWC22_uc002uno.2_Missense_Mutation_p.E217D|CWC22_uc002unp.2_Missense_Mutation_p.E695D	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog	695	Ser-rich.					catalytic step 2 spliceosome	protein binding|RNA binding				0						CACTGGAAGACTCTGAACTGC	0.443													A	180815294	C	A	180815294	3	1	27	1	0	0	0	0	1	0	0	0	4068	564	20	5	649	5	CWC22	2	180815294	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	832976	180815294	62384079	1301	25252											
ITGA4	3676	broad.mit.edu	37	chr2	182394352	182394352	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagcccccaaactgataagCtgttcaacattttggatgtc	7	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:182394352C>T	uc002unu.2	+	23	3278	c.2515C>T	c.(2515-2517)CTG>TTG	p.L839L	ITGA4_uc002unv.2_Silent_p.L84L	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	839	Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AACTGATAAGCTGTTCAACAT	0.338													T	182394352	C	T	182394352	2	4	27	1	0	0	0	0	0	0	0	1	7878	796	28	2		2	ITGA4	2	182394352	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1579058	182394352	60805021	1302	25253											
CERKL	375298	broad.mit.edu	37	chr2	182412405	182412405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaggaattgccataatgCtgacattcaagaactgaccc	9	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:182412405C>T	uc002unx.2	-	11	1387	c.1286G>A	c.(1285-1287)AGC>AAC	p.S429N	CERKL_uc002uny.2_Missense_Mutation_p.S403N|CERKL_uc010zfm.1_Missense_Mutation_p.S385N|CERKL_uc002unz.2_Missense_Mutation_p.S151N|CERKL_uc002uoa.2_Missense_Mutation_p.S334N|CERKL_uc002uob.2_Missense_Mutation_p.S151N|CERKL_uc002uoc.2_Missense_Mutation_p.S290N|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Missense_Mutation_p.S198N|CERKL_uc002unw.2_5'UTR	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	ceramide kinase-like isoform b	429					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGCCATAATGCTGACATTCAA	0.383													T	182412405	C	T	182412405	3	4	27	1	0	0	0	0	1	0	0	0	3268	797	28	2	406	2	CERKL	2	182412405	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	18053	182412405	60786968	1303	25254											
NEUROD1	4760	broad.mit.edu	37	chr2	182543447	182543447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtgagtcctcctctgcGttcatggtttcgaggtcgtc	11	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:182543447G>A	uc002uof.2	-	2	377	c.141C>T	c.(139-141)AAC>AAT	p.N47N	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	47					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CCTCCTCTGCGTTCATGGTTT	0.413													A	182543447	G	A	182543447	2	1	27	1	0	0	0	0	0	0	0	1	10348	1136	40	1		1	NEUROD1	2	182543447	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	131042	182543447	60655926	1304	25255											
PDE1A	5136	broad.mit.edu	37	chr2	183094743	183094743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtcttaccatgatacctGtatgaagcattatgtaatgc	7	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:183094743G>A	uc002uos.2	-	7	797	c.713C>T	c.(712-714)ACA>ATA	p.T238I	PDE1A_uc010zfp.1_Missense_Mutation_p.T134I|PDE1A_uc002uoq.1_Missense_Mutation_p.T238I|PDE1A_uc010zfq.1_Missense_Mutation_p.T238I|PDE1A_uc002uor.2_Missense_Mutation_p.T222I|PDE1A_uc002uou.2_Missense_Mutation_p.T204I	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 2	238	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CATGATACCTGTATGAAGCAT	0.358													A	183094743	G	A	183094743	3	1	27	1	0	0	0	0	1	0	0	0	11633	1377	48	4	1008	4	PDE1A	2	183094743	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	551296	183094743	60104630	1305	25256											
NCKAP1	10787	broad.mit.edu	37	chr2	183848065	183848065	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggacagtagccaattccttCagtgcagatcttaaaaactt	7	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:183848065C>T	uc002upc.2	-	11	1452	c.1050G>A	c.(1048-1050)CTG>CTA	p.L350L	NCKAP1_uc002upb.2_Silent_p.L356L	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	350					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CCAATTCCTTCAGTGCAGATC	0.343													T	183848065	C	T	183848065	2	4	27	1	0	0	0	0	0	0	0	1	10221	813	29	4		4	NCKAP1	2	183848065	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	753322	183848065	59351308	1306	25257											
ZNF804A	91752	broad.mit.edu	37	chr2	185463792	185463792	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaagaacgggaacaaaActctggtaatcgcttctgtt	9	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:185463792A>G	uc002uph.2	+	1	700	c.106A>G	c.(106-108)ACT>GCT	p.T36A		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	36						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						CGGGAACAAAACTCTGGTAAT	0.443													G	185463792	A	G	185463792	3	3	27	1	0	0	0	0	1	0	0	0	18167	43	2	3	108	3	ZNF804A	2	185463792	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1615727	185463792	57735581	1307	25258											
ZNF804A	91752	broad.mit.edu	37	chr2	185800760	185800760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattcacagacacaaaatcGgcttttcttttgcatttcca	6	10	2	1	rs139641449		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:185800760G>A	uc002uph.2	+	4	1231	c.637G>A	c.(637-639)GGC>AGC	p.G213S		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	213						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						ACACAAAATCGGCTTTTCTTT	0.438													A	185800760	G	A	185800760	3	1	27	1	0	0	0	0	1	0	0	0	18167	1116	39	1	651	1	ZNF804A	2	185800760	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	336968	185800760	57398613	1308	25259											
ITGAV	3685	broad.mit.edu	37	chr2	187534526	187534526	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcttgccctcagtgaaggAgatattcacactttggtaag	10	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:187534526A>G	uc002upq.2	+	26	2967	c.2691A>G	c.(2689-2691)GGA>GGG	p.G897G	ITGAV_uc010frs.2_Silent_p.G861G|ITGAV_uc010zfv.1_Silent_p.G851G	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	897	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TCAGTGAAGGAGATATTCACA	0.408													G	187534526	A	G	187534526	2	3	27	1	0	0	0	0	0	0	0	1	7888	291	11	3		3	ITGAV	2	187534526	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1733766	187534526	55664847	1309	25260											
FAM171B	165215	broad.mit.edu	37	chr2	187604970	187604970	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagtgtctgtatttatgtTgaaagtccaggtgaatgaca	10	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:187604970T>C	uc002ups.2	+	2	366	c.254T>C	c.(253-255)TTG>TCG	p.L85S	FAM171B_uc002upr.1_Missense_Mutation_p.L85S	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	85	Extracellular (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						GTATTTATGTTGAAAGTCCAG	0.368													C	187604970	T	C	187604970	3	2	27	1	0	0	0	0	1	0	0	0	5491	1821	63	3	260	3	FAM171B	2	187604970	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	70444	187604970	55594403	1310	25261											
ZSWIM2	151112	broad.mit.edu	37	chr2	187693278	187693278	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattcatcaaaattacactgAggtatgctaggtaaaattcc	6	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:187693278A>G	uc002upu.1	-	9	1375	c.1335T>C	c.(1333-1335)CCT>CCC	p.P445P		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	445					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AATTACACTGAGGTATGCTAG	0.308													G	187693278	A	G	187693278	2	3	27	1	0	0	0	0	0	0	0	1	18238	291	11	3		3	ZSWIM2	2	187693278	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	88308	187693278	55506095	1311	25262											
COL3A1	1281	broad.mit.edu	37	chr2	189870111	189870111	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagctaacggtctcagTggagaacgtggtccccctgg	14	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:189870111T>C	uc002uqj.1	+	41	3084	c.2967T>C	c.(2965-2967)AGT>AGC	p.S989S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	989	Triple-helical region.			ANGLS -> PSGQN (in Ref. 20; AA sequence).	axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACGGTCTCAGTGGAGAACGTG	0.453													C	189870111	T	C	189870111	2	2	27	1	0	0	0	0	0	0	0	1	3688	1693	59	3		3	COL3A1	2	189870111	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2176833	189870111	53329262	1312	25263											
COL5A2	1290	broad.mit.edu	37	chr2	189933518	189933518	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctagaaacttacaggaagAcctggagagccaactggacc	11	10	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:189933518A>G	uc002uqk.2	-	19	1526	c.1251T>C	c.(1249-1251)GGT>GGC	p.G417G	COL5A2_uc010frx.2_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	417					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTACAGGAAGACCTGGAGAGC	0.468													G	189933518	A	G	189933518	2	3	27	1	0	0	0	0	0	0	0	1	3697	262	10	3		3	COL5A2	2	189933518	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	63407	189933518	53265855	1313	25264											
COL5A2	1290	broad.mit.edu	37	chr2	189948739	189948739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaaatcccacttcaccagGatttccatttctgccaggtt	6	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:189948739G>A	uc002uqk.2	-	12	1098	c.823C>T	c.(823-825)CCT>TCT	p.P275S	COL5A2_uc010frx.2_Missense_Mutation_p.P28S	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	275					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACTTCACCAGGATTTCCATTT	0.343													A	189948739	G	A	189948739	3	1	27	1	0	0	0	0	1	0	0	0	3697	1174	41	4	3848	4	COL5A2	2	189948739	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	15221	189948739	53250634	1314	25265											
ASNSD1	54529	broad.mit.edu	37	chr2	190532261	190532261	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgtgcagtctggtttgcttCtagaggaattggttggttag	14	5	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:190532261C>G	uc002uqt.2	+	4	1837	c.1403C>G	c.(1402-1404)TCT>TGT	p.S468C		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	468	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TGGTTTGCTTCTAGAGGAATT	0.428													G	190532261	C	G	190532261	3	3	27	1	0	0	0	0	1	0	0	0	1049	913	32	5	1405	5	ASNSD1	2	190532261	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	583522	190532261	52667112	1315	25266											
ORMDL1	94101	broad.mit.edu	37	chr2	190647275	190647275	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acataccccggctgttcatgAcacgggtatttggattcact	9	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:190647275A>G	uc002urb.3	-	1	834	c.47T>C	c.(46-48)GTC>GCC	p.V16A	PMS1_uc010zga.1_5'Flank|PMS1_uc010zgb.1_5'Flank|PMS1_uc002urh.3_5'Flank|PMS1_uc002urk.3_5'Flank|PMS1_uc002uri.3_5'Flank|PMS1_uc010zgc.1_5'Flank|PMS1_uc010zgd.1_5'Flank|PMS1_uc002urj.2_5'Flank|ORMDL1_uc002urc.3_Missense_Mutation_p.V16A|ORMDL1_uc002urd.3_Missense_Mutation_p.V16A|ORMDL1_uc002ure.3_Missense_Mutation_p.V16A|ORMDL1_uc002urf.3_Missense_Mutation_p.V16A|PMS1_uc010zfz.1_5'Flank	NM_016467	NP_057551	Q9P0S3	ORML1_HUMAN	ORM1-like 1	16					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			GCTGTTCATGACACGGGTATT	0.453													G	190647275	A	G	190647275	3	3	27	1	0	0	0	0	1	0	0	0	11269	275	10	3	426	3	ORMDL1	2	190647275	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	115014	190647275	52552098	1316	25267											
MSTN	2660	broad.mit.edu	37	chr2	190927218	190927219	+	Frame_Shift_Ins	INS	-	-	T													atgcattacacagcccctctINSttttccacattttctttttg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:190927217_190927218C>CT	uc002urp.3	-	0	238_239	c.105_106G>AG	c.(103-108)aaagagfs	p.K35fs		NM_005259	NP_005250	O14793	GDF8_HUMAN	Homo sapiens myostatin (MSTN), mRNA.	35					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CACAGCCCCTCTTTTTCCACAT	0.371													T	190927219	-	T	190927218	7	5	27	1	0	1	1	0	0	0	0	0	9893	1606	56	0	1034	0	MSTN	2	190927218	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	279943	190927218	52272155	1317	25268											
MSTN	2660	broad.mit.edu	37	chr2	190927276	190927276	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatccactggaccagcaacaAtcagcataaacaggtaaata	7	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:190927276A>G	uc002urp.2	-	1	180	c.47T>C	c.(46-48)ATT>ACT	p.I16T		NM_005259	NP_005250	O14793	GDF8_HUMAN	myostatin precursor	16					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			ACCAGCAACAATCAGCATAAA	0.328													G	190927276	A	G	190927276	3	3	27	1	0	0	0	0	1	0	0	0	9893	101	4	3	1092	3	MSTN	2	190927276	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	58	190927276	52272097	1318	25269											
MFSD6	54842	broad.mit.edu	37	chr2	191301401	191301401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagacaccgttactttgccaAcagctccaaacatgaacagt	6	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:191301401A>G	uc002urz.2	+	3	970	c.646A>G	c.(646-648)ACA>GCA	p.T216A		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	216					transmembrane transport	integral to membrane				ovary(2)	2						TACTTTGCCAACAGCTCCAAA	0.448													G	191301401	A	G	191301401	3	3	27	1	0	0	0	0	1	0	0	0	9535	43	2	3	648	3	MFSD6	2	191301401	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	374125	191301401	51897972	1319	25270											
NAB1	4664	broad.mit.edu	37	chr2	191524184	191524184	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccttcctgtcagtagcatAcccatctataaattaccaga	4	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:191524184A>G	uc002usb.2	+	4	854	c.282A>G	c.(280-282)ATA>ATG	p.I94M	NAB1_uc010fsc.2_Missense_Mutation_p.I94M|NAB1_uc010fsd.2_Missense_Mutation_p.I94M|NAB1_uc002usc.2_Missense_Mutation_p.I94M|NAB1_uc010zgh.1_Missense_Mutation_p.I94M	NM_005966	NP_005957	Q13506	NAB1_HUMAN	NGFI-A binding protein 1	94					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			TCAGTAGCATACCCATCTATA	0.473													G	191524184	A	G	191524184	3	3	27	1	0	0	0	0	1	0	0	0	10131	381	14	3	284	3	NAB1	2	191524184	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	222783	191524184	51675189	1320	25271											
GLS	2744	broad.mit.edu	37	chr2	191792056	191792056	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctccattgaagtgacttgtGaatcagccagtgtgatggct	12	8	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:191792056G>A	uc002usf.2	+	12	1537	c.1273G>A	c.(1273-1275)GAA>AAA	p.E425K	GLS_uc002use.2_Missense_Mutation_p.E425K|GLS_uc002usg.1_Missense_Mutation_p.E86K|GLS_uc002ush.2_Missense_Mutation_p.E86K|GLS_uc010zgi.1_5'UTR|GLS_uc010zgj.1_5'Flank	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase precursor	425					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGTGACTTGTGAATCAGCCAG	0.383													A	191792056	G	A	191792056	3	1	27	1	0	0	0	0	1	0	0	0	6463	1291	45	4	1319	4	GLS	2	191792056	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	267872	191792056	51407317	1321	25272											
GLS	2744	broad.mit.edu	37	chr2	191796330	191796330	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgagacactttgcaaaaaaActtgatcctcgaagagaagg	9	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:191796330A>T	uc002usf.2	+	14	1881	c.1617A>T	c.(1615-1617)AAA>AAT	p.K539N	GLS_uc002use.2_Missense_Mutation_p.K539N|GLS_uc002usg.1_Missense_Mutation_p.K200N|GLS_uc002ush.2_Missense_Mutation_p.K200N|GLS_uc010zgi.1_Missense_Mutation_p.K110N|GLS_uc010zgj.1_Missense_Mutation_p.K44N	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase precursor	539					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTGCAAAAAAACTTGATCCTC	0.313													T	191796330	A	T	191796330	3	4	27	1	0	0	0	0	1	0	0	0	6463	40	2	5	1671	5	GLS	2	191796330	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4274	191796330	51403043	1322	25273											
GLS	2744	broad.mit.edu	37	chr2	191819388	191819388	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgtagctgctgcagagggTaatacaggaactactcctat	10	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:191819388T>C	uc002usf.2	+	16	2053	c.1789_splice	c.e16+2	p.G597_splice	GLS_uc002ush.2_Splice_Site_p.G258_splice|GLS_uc010zgi.1_Silent_p.G168G|GLS_uc010zgj.1_Splice_Site_p.G102_splice	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase precursor						cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGCAGAGGGTAATACAGGAA	0.408													C	191819388	T	C	191819388	5	2	27	1	0	0	0	0	0	0	1	0	6463	1652	57	3	1853	3	GLS	2	191819388	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	23058	191819388	51379985	1323	25274											
STAT1	6772	broad.mit.edu	37	chr2	191863025	191863025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactctttgccacaccattgGtctcgtgttctataaattga	6	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:191863025G>A	uc002usj.2	-	8	939	c.551C>T	c.(550-552)ACC>ATC	p.T184I	STAT1_uc010fse.1_Missense_Mutation_p.T184I|STAT1_uc002usk.2_Missense_Mutation_p.T184I|STAT1_uc002usl.2_Missense_Mutation_p.T186I|STAT1_uc010fsf.1_Intron	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	184					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	CACACCATTGGTCTCGTGTTC	0.323													A	191863025	G	A	191863025	3	1	27	1	0	0	0	0	1	0	0	0	15263	1261	44	4	1777	4	STAT1	2	191863025	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	43637	191863025	51336348	1324	25275											
STAT4	6775	broad.mit.edu	37	chr2	191937856	191937856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaatggcagccactttgtGctccacattcctctgtcttt	6	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:191937856G>A	uc002usm.1	-	5	687	c.433C>T	c.(433-435)CAC>TAC	p.H145Y	STAT4_uc002usn.1_Missense_Mutation_p.H145Y|STAT4_uc002uso.2_Missense_Mutation_p.H145Y	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	145					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GCCACTTTGTGCTCCACATTC	0.398													A	191937856	G	A	191937856	3	1	27	1	0	0	0	0	1	0	0	0	15266	1319	46	2	1893	2	STAT4	2	191937856	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	74831	191937856	51261517	1325	25276											
STAT4	6775	broad.mit.edu	37	chr2	192011389	192011389	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtatcaagagtaggttttTctctttggaaacacgaccta	9	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:192011389T>C	uc002usm.1	-	3	477	c.223A>G	c.(223-225)AAA>GAA	p.K75E	STAT4_uc010zgm.1_RNA|STAT4_uc010zgn.1_RNA|STAT4_uc010zgo.1_RNA|STAT4_uc002usn.1_Missense_Mutation_p.K75E|STAT4_uc002uso.2_Missense_Mutation_p.K75E|STAT4_uc002usp.3_Missense_Mutation_p.K75E|STAT4_uc010zgl.1_Missense_Mutation_p.K75E	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	75					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AGTAGGTTTTTCTCTTTGGAA	0.343													C	192011389	T	C	192011389	3	2	27	1	0	0	0	0	1	0	0	0	15266	1792	62	3	2111	3	STAT4	2	192011389	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	73533	192011389	51187984	1326	25277											
MYO1B	4430	broad.mit.edu	37	chr2	192255027	192255027	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatctttaaggtgtatcaaAccgaatgataaaaaagcagc	8	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:192255027A>C	uc010fsg.2	+	18	2046	c.1791A>C	c.(1789-1791)AAA>AAC	p.K597N	MYO1B_uc002usq.2_Missense_Mutation_p.K597N|MYO1B_uc002usr.2_Missense_Mutation_p.K597N|MYO1B_uc002usu.2_5'Flank	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	597	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GGTGTATCAAACCGAATGATA	0.393													C	192255027	A	C	192255027	3	2	27	1	0	0	0	0	1	0	0	0	10069	40	2	5	1857	5	MYO1B	2	192255027	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	243638	192255027	50944346	1327	25278											
MYO1B	4430	broad.mit.edu	37	chr2	192275824	192275824	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggaccaattcacagaccaGcagaaacttatttatgaaga	8	8	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:192275824G>T	uc010fsg.2	+	27	3054	c.2799G>T	c.(2797-2799)CAG>CAT	p.Q933H	MYO1B_uc002usq.2_Missense_Mutation_p.Q875H|MYO1B_uc002usr.2_Missense_Mutation_p.Q933H|MYO1B_uc002usu.2_Missense_Mutation_p.Q178H|MYO1B_uc002usv.2_Missense_Mutation_p.Q49H	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	933						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TCACAGACCAGCAGAAACTTA	0.313													T	192275824	G	T	192275824	3	4	27	1	0	0	0	0	1	0	0	0	10069	962	34	5	2901	5	MYO1B	2	192275824	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	20797	192275824	50923549	1328	25279											
SDPR	8436	broad.mit.edu	37	chr2	192700777	192700777	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgttccagggccactgActcctcctcttcatcttcca	6	17	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:192700777A>T	uc002utb.2	-	2	1480	c.1150T>A	c.(1150-1152)TCA>ACA	p.S384T		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	384						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	AGGGCCACTGACTCCTCCTCT	0.597													T	192700777	A	T	192700777	3	4	27	1	0	0	0	0	1	0	0	0	13970	275	10	5	131	5	SDPR	2	192700777	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	424953	192700777	50498596	1329	25280											
SLC39A10	57181	broad.mit.edu	37	chr2	196573391	196573391	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattaatagtctcagggtggAcatgatcacagtcaccaaca	8	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:196573391A>G	uc002utg.3	+	5	1612	c.1398A>G	c.(1396-1398)GGA>GGG	p.G466G	SLC39A10_uc002uth.3_Silent_p.G466G|SLC39A10_uc010zgp.1_Silent_p.G16G	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter),	466	His-rich.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.221)			CTCAGGGTGGACATGATCACA	0.299													G	196573391	A	G	196573391	2	3	27	1	0	0	0	0	0	0	0	1	14613	262	10	3		3	SLC39A10	2	196573391	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3872614	196573391	46625982	1330	25281											
DNAH7	56171	broad.mit.edu	37	chr2	196671554	196671554	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaaaacctcatggtgtggTtcctaaaattacagtgtaaa	10	6	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:196671554T>C	uc002utj.3	-	54	10187	c.10086A>G	c.(10084-10086)GAA>GAG	p.E3362E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3362					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						CATGGTGTGGTTCCTAAAATT	0.318													C	196671554	T	C	196671554	2	2	27	1	0	0	0	0	0	0	0	1	4606	1722	60	3		3	DNAH7	2	196671554	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	98163	196671554	46527819	1331	25282											
DNAH7	56171	broad.mit.edu	37	chr2	196759893	196759893	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttgatagctgccagcaaaTcattgtaatctggttttggt	9	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:196759893T>A	uc002utj.3	-	30	4804	c.4703A>T	c.(4702-4704)GAT>GTT	p.D1568V		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1568					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TGCCAGCAAATCATTGTAATC	0.328													A	196759893	T	A	196759893	3	1	27	1	0	0	0	0	1	0	0	0	4606	1435	50	5	7515	5	DNAH7	2	196759893	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	88339	196759893	46439480	1332	25283											
DNAH7	56171	broad.mit.edu	37	chr2	196883924	196883924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgccacaaatctagtacaGccagcattgtggggttcatt	10	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:196883924G>A	uc002utj.3	-	9	940	c.839C>T	c.(838-840)GCT>GTT	p.A280V		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	280	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						ATCTAGTACAGCCAGCATTGT	0.343													A	196883924	G	A	196883924	3	1	27	1	0	0	0	0	1	0	0	0	4606	971	34	2	11463	2	DNAH7	2	196883924	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	124031	196883924	46315449	1333	25284											
STK17B	9262	broad.mit.edu	37	chr2	197004488	197004488	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcccacaaatggtgatgtgTgagttaacaacatatatgct	8	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:197004488T>C	uc002utk.2	-	7	1016	c.692A>G	c.(691-693)CAC>CGC	p.H231R	STK17B_uc010fsh.2_Missense_Mutation_p.H231R	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	231	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)			TGGTGATGTGTGAGTTAACAA	0.294													C	197004488	T	C	197004488	3	2	27	1	0	0	0	0	1	0	0	0	15290	1696	59	3	434	3	STK17B	2	197004488	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	120564	197004488	46194885	1334	25285											
STK17B	9262	broad.mit.edu	37	chr2	197010665	197010665	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtacaatgttattctgAtgtagataataaactccttc	7	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:197010665A>C	uc002utk.2	-	4	774	c.450T>G	c.(448-450)CAT>CAG	p.H150Q	STK17B_uc010fsh.2_Missense_Mutation_p.H150Q	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	150	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)			TGTTATTCTGATGTAGATAAT	0.333													C	197010665	A	C	197010665	3	2	27	1	0	0	0	0	1	0	0	0	15290	330	12	5	688	5	STK17B	2	197010665	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	6177	197010665	46188708	1335	25286											
HECW2	57520	broad.mit.edu	37	chr2	197080627	197080627	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcccccatttctccacacaGaatcttcttgggccgttact	5	15	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:197080627G>A	uc002utm.1	-	28	4752	c.4569C>T	c.(4567-4569)TTC>TTT	p.F1523F	HECW2_uc002utl.1_Silent_p.F1167F	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	1523	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						TCTCCACACAGAATCTTCTTG	0.413													A	197080627	G	A	197080627	2	1	27	1	0	0	0	0	0	0	0	1	7043	933	33	4		4	HECW2	2	197080627	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	69962	197080627	46118746	1336	25287											
CCDC150	284992	broad.mit.edu	37	chr2	197559769	197559769	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttacttttgtttctttaaaGgtagacataaatacattaac	4	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:197559769G>T	uc002utp.1	+	14	1645	c.1510_splice	c.e14-1	p.V504_splice	CCDC150_uc010zgq.1_Splice_Site|CCDC150_uc010zgr.1_Splice_Site|CCDC150_uc010zgs.1_Splice_Site_p.V172_splice|CCDC150_uc010zgt.1_5'Flank	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150												0						TTTCTTTAAAGGTAGACATAA	0.318													T	197559769	G	T	197559769	5	4	27	1	0	0	0	0	0	0	1	0	2785	1014	35	5	1563	5	CCDC150	2	197559769	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	479142	197559769	45639604	1337	25288											
CCDC150	284992	broad.mit.edu	37	chr2	197584353	197584353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtacaaatagagcttgggCggagggattcagagattgca	14	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:197584353C>T	uc002utp.1	+	19	2263	c.2128C>T	c.(2128-2130)CGG>TGG	p.R710W	CCDC150_uc010zgs.1_Missense_Mutation_p.R357W|CCDC150_uc010zgt.1_Missense_Mutation_p.R127W|CCDC150_uc002utq.1_Missense_Mutation_p.R25W|CCDC150_uc002utr.1_Missense_Mutation_p.R25W	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	710											0						AGAGCTTGGGCGGAGGGATTC	0.443													T	197584353	C	T	197584353	3	4	27	1	0	0	0	0	1	0	0	0	2785	759	27	1	2202	1	CCDC150	2	197584353	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	24584	197584353	45615020	1338	25289											
GTF3C3	9330	broad.mit.edu	37	chr2	197634713	197634713	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggttaggcctatacagaAgctatagagaggttcgtcag	12	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:197634713A>C	uc002uts.2	-	16	2401	c.2311T>G	c.(2311-2313)TTC>GTC	p.F771V	GTF3C3_uc010zgu.1_Missense_Mutation_p.F742V	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	771						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						CCTATACAGAAGCTATAGAGA	0.413													C	197634713	A	C	197634713	3	2	27	1	0	0	0	0	1	0	0	0	6874	72	3	5	361	5	GTF3C3	2	197634713	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	50360	197634713	45564660	1339	25290											
GTF3C3	9330	broad.mit.edu	37	chr2	197634743	197634743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggttcgtcagggtgagtgcGaaaggcttgcacatactgtc	14	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:197634743G>A	uc002uts.2	-	16	2371	c.2281C>T	c.(2281-2283)CGC>TGC	p.R761C	GTF3C3_uc010zgu.1_Missense_Mutation_p.R732C	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	761	TPR 10.					transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						GGGTGAGTGCGAAAGGCTTGC	0.413													A	197634743	G	A	197634743	3	1	27	1	0	0	0	0	1	0	0	0	6874	1058	37	1	391	1	GTF3C3	2	197634743	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	30	197634743	45564630	1340	25291											
PGAP1	80055	broad.mit.edu	37	chr2	197767343	197767343	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactggtatgatggcttaatTttggtagaaaagtcaatcct	9	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:197767343T>C	uc002utw.2	-	5	887	c.773A>G	c.(772-774)AAA>AGA	p.K258R	PGAP1_uc002utx.2_Missense_Mutation_p.K84R|PGAP1_uc002uty.1_Missense_Mutation_p.K258R|PGAP1_uc010zgv.1_RNA|PGAP1_uc010fsj.2_Missense_Mutation_p.K84R	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	258	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			ovary(3)|central_nervous_system(1)	4						ATGGCTTAATTTTGGTAGAAA	0.358													C	197767343	T	C	197767343	3	2	27	1	0	0	0	0	1	0	0	0	11777	1841	64	3	2087	3	PGAP1	2	197767343	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	132600	197767343	45432030	1341	25292											
ANKRD44	91526	broad.mit.edu	37	chr2	197878384	197878384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcatccctgatgtccaggTccaccaacgactgcagaagg	9	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:197878384T>C	uc002uua.1	-	18	1777	c.1700A>G	c.(1699-1701)GAC>GGC	p.D567G	ANKRD44_uc002utz.3_Missense_Mutation_p.D299G	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	592	ANK 17.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GATGTCCAGGTCCACCAACGA	0.532													C	197878384	T	C	197878384	3	2	27	1	0	0	0	0	1	0	0	0	672	1667	58	3	1095	3	ANKRD44	2	197878384	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	111041	197878384	45320989	1342	25293											
SF3B1	23451	broad.mit.edu	37	chr2	198273121	198273121	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggtagccatgttcatggcTggtgtgccaattggtgtctt	15	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:198273121T>C	uc002uue.2	-	8	1137	c.1089A>G	c.(1087-1089)CCA>CCG	p.P363P		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	363	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTCATGGCTGGTGTGCCAA	0.428													C	198273121	T	C	198273121	2	2	27	1	0	0	0	0	0	0	0	1	14149	1567	55	3		3	SF3B1	2	198273121	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	394737	198273121	44926252	1343	25294											
HSPD1	3329	broad.mit.edu	37	chr2	198361942	198361942	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatagagcgtgccagtacagTagcagtggtagtgccatccc	12	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:198361942T>C	uc002uui.2	-	3	486	c.349A>G	c.(349-351)ACT>GCT	p.T117A	HSPD1_uc002uuj.2_Missense_Mutation_p.T117A|HSPD1_uc010zgx.1_Missense_Mutation_p.T117A|HSPD1_uc010fsm.2_Intron|HSPD1_uc002uuk.2_Missense_Mutation_p.T117A|HSPD1_uc010zgy.1_Missense_Mutation_p.T117A|HSPE1_uc002uul.2_5'Flank	NM_002156	NP_002147	P10809	CH60_HUMAN	chaperonin	117					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding				0			Epithelial(96;0.225)			GCCAGTACAGTAGCAGTGGTA	0.418													C	198361942	T	C	198361942	3	2	27	1	0	0	0	0	1	0	0	0	7428	1638	57	3	1412	3	HSPD1	2	198361942	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	88821	198361942	44837431	1344	25295											
HSPD1	3329	broad.mit.edu	37	chr2	198361971	198361971	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtgccatccccagcttctTcatttgtgttattggcaaca	7	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:198361971T>G	uc002uui.2	-	3	457	c.320A>C	c.(319-321)GAA>GCA	p.E107A	HSPD1_uc002uuj.2_Missense_Mutation_p.E107A|HSPD1_uc010zgx.1_Missense_Mutation_p.E107A|HSPD1_uc010fsm.2_Intron|HSPD1_uc002uuk.2_Missense_Mutation_p.E107A|HSPD1_uc010zgy.1_Missense_Mutation_p.E107A|HSPE1_uc002uul.2_5'Flank	NM_002156	NP_002147	P10809	CH60_HUMAN	chaperonin	107					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding				0			Epithelial(96;0.225)			CCCAGCTTCTTCATTTGTGTT	0.408													G	198361971	T	G	198361971	3	3	27	1	0	0	0	0	1	0	0	0	7428	1783	62	5	1441	5	HSPD1	2	198361971	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	29	198361971	44837402	1345	25296											
RFTN2	130132	broad.mit.edu	37	chr2	198511243	198511243	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagcaccactctgtataggTaacttgcaggtaggtgtttt	10	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:198511243T>C	uc002uuo.3	-	2	689	c.287A>G	c.(286-288)TAC>TGC	p.Y96C		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	96						plasma membrane					0						TCTGTATAGGTAACTTGCAGG	0.398													C	198511243	T	C	198511243	3	2	27	1	0	0	0	0	1	0	0	0	13259	1638	57	3	1250	3	RFTN2	2	198511243	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	149272	198511243	44688130	1346	25297											
SATB2	23314	broad.mit.edu	37	chr2	200246496	200246496	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgcgtcgggtgcatctgTcacataactgagggggagag	16	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:200246496T>G	uc002uuy.1	-	4	1211	c.394A>C	c.(394-396)ACA>CCA	p.T132P	SATB2_uc010fsq.1_Intron|SATB2_uc002uuz.1_Missense_Mutation_p.T132P|SATB2_uc002uva.1_Missense_Mutation_p.T132P	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	132						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGTGCATCTGTCACATAACTG	0.433													G	200246496	T	G	200246496	3	3	27	1	0	0	0	0	1	0	0	0	13854	1667	58	5	1839	5	SATB2	2	200246496	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1735253	200246496	42952877	1347	25298											
SPATS2L	26010	broad.mit.edu	37	chr2	201337675	201337675	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgaaaatcatccactcAcaataagccctctgaaggca	5	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:201337675A>G	uc002uvn.3	+	12	1533	c.1181A>G	c.(1180-1182)CAC>CGC	p.H394R	SPATS2L_uc010fst.2_Missense_Mutation_p.H394R|SPATS2L_uc002uvo.3_Missense_Mutation_p.H334R|SPATS2L_uc002uvp.3_Missense_Mutation_p.H394R|SPATS2L_uc002uvq.3_Missense_Mutation_p.H325R|SPATS2L_uc002uvr.3_Missense_Mutation_p.H394R|SPATS2L_uc010zhc.1_Missense_Mutation_p.H424R	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	SPATS2-like protein isoform a	394						cytoplasm|nucleolus				ovary(2)|pancreas(1)	3						TCATCCACTCACAATAAGCCC	0.557													G	201337675	A	G	201337675	3	3	27	1	0	0	0	0	1	0	0	0	15019	159	6	3	1219	3	SPATS2L	2	201337675	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1091179	201337675	41861698	1348	25299											
SGOL2	151246	broad.mit.edu	37	chr2	201436289	201436289	+	Frame_Shift_Del	DEL	A	A	-													agtgaaagattccagctctgAaaaaaagagagaaagatcaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:201436288_201436288GA>G	uc002uvw.2	+	6	1332	c.1219_1219GA>G	c.(1219-1221)gaafs	p.E407fs	SGOL2_uc010zhd.1_Frame_Shift_Del_p.E407fs|SGOL2_uc010zhe.1_Frame_Shift_Del_p.E407fs	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	407					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTCCAGCTCTGAAAAAAAGAG	0.323													-	201436289	A	-	201436289	7	5	27	1	0	1	0	1	0	0	0	0	14217	246	9	0	1242	0	SGOL2	2	201436289	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	98614	201436289	41763084	1349	25300											
AOX1	316	broad.mit.edu	37	chr2	201501681	201501681	+	Frame_Shift_Del	DEL	C	C	-													ccagctaacaaggtcatgtgCcatgtaaggcgtgttggtgg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:201501680_201501680GC>G	uc002uvx.3	+	21	2494	c.2393_2393GC>G	c.(2392-2394)tgcfs	p.C798fs	AOX1_uc010zhf.2_Frame_Shift_Del_p.C354fs|AOX1_uc010fsu.3_Frame_Shift_Del_p.C164fs	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	798					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AAGGTCATGTGCCATGTAAGG	0.448													-	201501681	C	-	201501681	7	5	27	1	0	1	0	1	0	0	0	0	729	747	26	0	2480	0	AOX1	2	201501681	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	65392	201501681	41697692	1350	25301											
BZW1	9689	broad.mit.edu	37	chr2	201685984	201685984	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggaagagtgttttccttgAgcaaatgaaaaagtttgtag	13	3	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:201685984A>C	uc010zhg.1	+	11	1332	c.1280A>C	c.(1279-1281)GAG>GCG	p.E427A	BZW1_uc002uwc.2_Missense_Mutation_p.E329A	NM_014670	NP_055485	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	395	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding				0						GTTTTCCTTGAGCAAATGAAA	0.388													C	201685984	A	C	201685984	3	2	27	1	0	0	0	0	1	0	0	0	1578	304	11	5	1024	5	BZW1	2	201685984	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	184303	201685984	41513389	1351	25302											
CLK1	1195	broad.mit.edu	37	chr2	201726528	201726528	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgctcctccattttcCataatcccaatccttgtcat	4	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:201726528C>A	uc002uwe.2	-	2	239	c.58G>T	c.(58-60)GGA>TGA	p.G20*	CLK1_uc010zhi.1_Nonsense_Mutation_p.G62*|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_5'UTR|CLK1_uc010fsv.2_RNA	NM_004071	NP_004062	P49759	CLK1_HUMAN	CDC-like kinase 1 isoform 1	20					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			pancreas(2)	2						CTCCATTTTCCATAATCCCAA	0.413													A	201726528	C	A	201726528	4	1	27	1	0	0	0	0	0	1	0	0	3536	603	21	5	1444	5	CLK1	2	201726528	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	40544	201726528	41472845	1352	25303											
CASP10	843	broad.mit.edu	37	chr2	202050789	202050789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgcagcacctcaacTgtaccaaagaggaagtggag	12	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:202050789T>C	uc002uxl.1	+	2	707	c.289T>C	c.(289-291)TGT>CGT	p.C97R	CASP10_uc002uxi.1_Missense_Mutation_p.C97R|CASP10_uc010zhn.1_RNA|CASP10_uc002uxj.1_Missense_Mutation_p.C97R|CASP10_uc002uxk.1_Missense_Mutation_p.C97R|CASP10_uc010fta.1_Missense_Mutation_p.C97R|CASP10_uc002uxm.1_Missense_Mutation_p.C97R|CASP10_uc010ftb.1_RNA	NM_032974	NP_116756	Q92851	CASPA_HUMAN	caspase 10 isoform b preproprotein	97	DED 1.				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			skin(3)|ovary(1)|pancreas(1)|breast(1)	6						GCACCTCAACTGTACCAAAGA	0.532													C	202050789	T	C	202050789	3	2	27	1	0	0	0	0	1	0	0	0	2669	1580	55	3	291	3	CASP10	2	202050789	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	324261	202050789	41148584	1353	25304											
CASP8	841	broad.mit.edu	37	chr2	202136301	202136301	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgaggtcttttaagtttcTtttgcaagaggaaatctcca	8	6	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:202136301T>C	uc002uxr.1	+	4	577	c.368T>C	c.(367-369)CTT>CCT	p.L123P	CASP8_uc010ftc.1_Missense_Mutation_p.L123P|CASP8_uc002uxo.1_Missense_Mutation_p.L123P|CASP8_uc002uxp.1_Missense_Mutation_p.L155P|CASP8_uc002uxq.1_Missense_Mutation_p.L123P|CASP8_uc002uxs.1_Missense_Mutation_p.L123P|CASP8_uc002uxt.1_Missense_Mutation_p.L182P|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Missense_Mutation_p.L20P|CASP8_uc002uxv.1_Missense_Mutation_p.L123P|CASP8_uc002uxw.1_Missense_Mutation_p.L123P|CASP8_uc002uxy.1_Missense_Mutation_p.L123P|CASP8_uc002uxx.1_Missense_Mutation_p.L123P|CASP8_uc010ftf.2_Missense_Mutation_p.L123P|CASP8_uc010fte.1_Missense_Mutation_p.L20P	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	123	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						TTTAAGTTTCTTTTGCAAGAG	0.418										HNSCC(4;0.00038)			C	202136301	T	C	202136301	3	2	27	1	0	0	0	0	1	0	0	0	2677	1609	56	3	655	3	CASP8	2	202136301	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	85512	202136301	41063072	1354	25305											
ALS2CR11	151254	broad.mit.edu	37	chr2	202483730	202483730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctccgaccctttaatgtGcatgatatccgggctgctgt	10	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:202483730G>A	uc002uye.2	-	1	172	c.124C>T	c.(124-126)CAC>TAC	p.H42Y	ALS2CR11_uc002uyf.2_Missense_Mutation_p.H42Y|ALS2CR11_uc010fti.2_Missense_Mutation_p.H42Y	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	42										large_intestine(1)|ovary(1)|skin(1)	3						CCTTTAATGTGCATGATATCC	0.602													A	202483730	G	A	202483730	3	1	27	1	0	0	0	0	1	0	0	0	552	1319	46	2	5549	2	ALS2CR11	2	202483730	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	347429	202483730	40715643	1355	25306											
MPP4	58538	broad.mit.edu	37	chr2	202510022	202510022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggcagacaacaactgggCacatgcatcgtgcaagctgt	11	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:202510022C>T	uc002uyk.3	-	22	2033	c.1825G>A	c.(1825-1827)GCC>ACC	p.A609T	ALS2CR4_uc002uyg.1_5'Flank|ALS2CR4_uc002uyh.1_5'Flank|MPP4_uc002uyi.3_Missense_Mutation_p.A227T|MPP4_uc010ftj.2_Missense_Mutation_p.A602T|MPP4_uc010zhq.1_Missense_Mutation_p.A578T|MPP4_uc010zhr.1_Missense_Mutation_p.A585T|MPP4_uc010zhs.1_Missense_Mutation_p.A534T|MPP4_uc002uyj.3_Missense_Mutation_p.A574T|MPP4_uc010zht.1_Missense_Mutation_p.A551T|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.A565T	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	609	Guanylate kinase-like.|Potential.					cytoplasm	protein binding				0						AACAACTGGGCACATGCATCG	0.443													T	202510022	C	T	202510022	3	4	27	1	0	0	0	0	1	0	0	0	9736	710	25	2	92	2	MPP4	2	202510022	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	26292	202510022	40689351	1356	25307											
ALS2	57679	broad.mit.edu	37	chr2	202588154	202588154	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttgccacattcccatatActtttcccccctgcacagaa	3	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:202588154A>G	uc002uyo.2	-	22	3879	c.3523T>C	c.(3523-3525)TAT>CAT	p.Y1175H	ALS2_uc002uyp.3_Missense_Mutation_p.Y1175H|ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	1175	MORN 6.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7						ATTCCCATATACTTTTCCCCC	0.398													G	202588154	A	G	202588154	3	3	27	1	0	0	0	0	1	0	0	0	550	391	14	3	1502	3	ALS2	2	202588154	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	78132	202588154	40611219	1357	25308											
NOP58	51602	broad.mit.edu	37	chr2	203160406	203160406	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttgtaggttctctttTaaatttggccaagcatgcag	8	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:203160406T>C	uc002uzb.2	+	10	1067	c.917T>C	c.(916-918)TTA>TCA	p.L306S		NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein homolog	306	Nop.				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding				0						GGTTCTCTTTTAAATTTGGCC	0.388													C	203160406	T	C	203160406	3	2	27	1	0	0	0	0	1	0	0	0	10540	1764	61	3	955	3	NOP58	2	203160406	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	572252	203160406	40038967	1358	25309											
FAM117B	150864	broad.mit.edu	37	chr2	203630429	203630429	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctcgaggaacaagtacagTcatgccatcagcttctctac	7	13	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:203630429T>C	uc010zhx.1	+	8	1722	c.1712T>C	c.(1711-1713)GTC>GCC	p.V571A		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	571										ovary(1)	1						ACAAGTACAGTCATGCCATCA	0.522													C	203630429	T	C	203630429	3	2	27	1	0	0	0	0	1	0	0	0	5410	1667	58	3	1742	3	FAM117B	2	203630429	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	470023	203630429	39568944	1359	25310											
ICA1L	130026	broad.mit.edu	37	chr2	203693595	203693595	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttagcatccagttcagcAtcagacgccaccaagtgctc	8	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:203693595A>G	uc002uzh.1	-	3	302	c.138T>C	c.(136-138)GAT>GAC	p.D46D	ICA1L_uc002uzi.1_Silent_p.D46D|ICA1L_uc002uzj.2_Silent_p.D46D|ICA1L_uc002uzk.1_Silent_p.D46D	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like isoform 1	46	AH.										0						CCAGTTCAGCATCAGACGCCA	0.403													G	203693595	A	G	203693595	2	3	27	1	0	0	0	0	0	0	0	1	7478	214	8	3		3	ICA1L	2	203693595	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	63166	203693595	39505778	1360	25311											
RAPH1	65059	broad.mit.edu	37	chr2	204305854	204305854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatcactgggggtgttgGcggcttaaacagggcccctg	15	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:204305854G>A	uc002vad.2	-	14	2284	c.2059C>T	c.(2059-2061)CCA>TCA	p.P687S		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	687					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						GGGGGTGTTGGCGGCTTAAAC	0.458													A	204305854	G	A	204305854	3	1	27	1	0	0	0	0	1	0	0	0	13050	1203	42	2	1697	2	RAPH1	2	204305854	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	612259	204305854	38893519	1361	25312											
RAPH1	65059	broad.mit.edu	37	chr2	204309652	204309652	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagaatacggagctcacaAtgctctgggaacggacgtgt	13	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:204309652A>C	uc002vad.2	-	13	1940	c.1715T>G	c.(1714-1716)ATT>AGT	p.I572S	RAPH1_uc002vae.2_Missense_Mutation_p.I624S|RAPH1_uc002vaf.2_Missense_Mutation_p.I624S	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	572					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						GGAGCTCACAATGCTCTGGGA	0.453													C	204309652	A	C	204309652	3	2	27	1	0	0	0	0	1	0	0	0	13050	101	4	5	2052	5	RAPH1	2	204309652	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3798	204309652	38889721	1362	25313											
PARD3B	117583	broad.mit.edu	37	chr2	205986606	205986606	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaccatcctctccctcActctcgcctctcatgggatt	6	16	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:205986606A>G	uc002var.1	+	8	1305	c.1098A>G	c.(1096-1098)TCA>TCG	p.S366S	PARD3B_uc010fub.1_Silent_p.S366S|PARD3B_uc002vao.1_Silent_p.S366S|PARD3B_uc002vap.1_Silent_p.S366S|PARD3B_uc002vaq.1_Silent_p.S366S	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	366					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCTCTCCCTCACTCTCGCCTC	0.418													G	205986606	A	G	205986606	2	3	27	1	0	0	0	0	0	0	0	1	11444	146	6	3		3	PARD3B	2	205986606	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1676954	205986606	37212767	1363	25314											
NDUFS1	4719	broad.mit.edu	37	chr2	207011675	207011675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagggcttagaggttaggGcacctacagggcagatatca	13	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:207011675G>A	uc002vbe.2	-	8	816	c.689C>T	c.(688-690)GCC>GTC	p.A230V	NDUFS1_uc010ziq.1_Missense_Mutation_p.A244V|NDUFS1_uc010zir.1_Missense_Mutation_p.A194V|NDUFS1_uc010zis.1_Missense_Mutation_p.A173V|NDUFS1_uc010zit.1_Missense_Mutation_p.A119V|NDUFS1_uc010ziu.1_Missense_Mutation_p.A114V	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	230					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	AGAGGTTAGGGCACCTACAGG	0.388													A	207011675	G	A	207011675	3	1	27	1	0	0	0	0	1	0	0	0	10291	1203	42	2	1542	2	NDUFS1	2	207011675	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1025069	207011675	36187698	1364	25315											
ZDBF2	57683	broad.mit.edu	37	chr2	207173626	207173626	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaataaaatgtcattcTtgtgttcatcttcagtcaga	6	7	7	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:207173626T>G	uc002vbp.2	+	5	4624	c.4374T>G	c.(4372-4374)TCT>TCG	p.S1458S		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1458							nucleic acid binding|zinc ion binding			ovary(3)	3						AATGTCATTCTTGTGTTCATC	0.378													G	207173626	T	G	207173626	2	3	27	1	0	0	0	0	0	0	0	1	17596	1596	56	5		5	ZDBF2	2	207173626	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	161951	207173626	36025747	1365	25316											
ZDBF2	57683	broad.mit.edu	37	chr2	207174279	207174279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagacacttctcatcgaaCgactcaccgactgcagaaag	9	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:207174279C>T	uc002vbp.2	+	5	5277	c.5027C>T	c.(5026-5028)ACG>ATG	p.T1676M		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1676							nucleic acid binding|zinc ion binding			ovary(3)	3						TCTCATCGAACGACTCACCGA	0.408													T	207174279	C	T	207174279	3	4	27	1	0	0	0	0	1	0	0	0	17596	536	19	1	5037	1	ZDBF2	2	207174279	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	653	207174279	36025094	1366	25317											
ADAM23	8745	broad.mit.edu	37	chr2	207429771	207429771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacagaatcctggggtgGctgcatcatggaggaaacag	14	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:207429771G>A	uc002vbq.2	+	14	1596	c.1373G>A	c.(1372-1374)GGC>GAC	p.G458D	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	458	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TCCTGGGGTGGCTGCATCATG	0.373													A	207429771	G	A	207429771	3	1	27	1	0	0	0	0	1	0	0	0	245	1203	42	2	1427	2	ADAM23	2	207429771	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	255492	207429771	35769602	1367	25318											
DYTN	391475	broad.mit.edu	37	chr2	207530748	207530748	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attggtttaactgttttttaAggagcctgaaaagagaacag	10	4	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:207530748A>C	uc002vbr.1	-	10	1103	c.986T>G	c.(985-987)CTT>CGT	p.L329R		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	dystrotelin	329	Potential.					plasma membrane	zinc ion binding			ovary(1)|central_nervous_system(1)	2				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CTGTTTTTTAAGGAGCCTGAA	0.403													C	207530748	A	C	207530748	3	2	27	1	0	0	0	0	1	0	0	0	4861	72	3	5	762	5	DYTN	2	207530748	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	100977	207530748	35668625	1368	25319											
CPO	130749	broad.mit.edu	37	chr2	207825666	207825666	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttcaatgcatcttggtgtAgtaagtacatgcttagtaga	9	5	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:207825666A>G	uc002vby.2	+	6	620	c.574A>G	c.(574-576)AGT>GGT	p.S192G		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	carboxypeptidase O precursor	192					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		ATCTTGGTGTAGTAAGTACAT	0.343													G	207825666	A	G	207825666	3	3	27	1	0	0	0	0	1	0	0	0	3820	434	15	3	596	3	CPO	2	207825666	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	294918	207825666	35373707	1369	25320											
CREB1	1385	broad.mit.edu	37	chr2	208432253	208432253	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtaactgattcccaaaagCgaagggaaattctttcaagg	10	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:208432253C>T	uc002vcc.2	+	5	621	c.370C>T	c.(370-372)CGA>TGA	p.R124*	CREB1_uc010ziz.1_Nonsense_Mutation_p.R108*|CREB1_uc002vcd.2_Nonsense_Mutation_p.R110*|CREB1_uc010zja.1_RNA	NM_134442	NP_604391	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	124	KID.				activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(42)	soft_tissue(42)|breast(1)|central_nervous_system(1)	44				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	TTCCCAAAAGCGAAGGGAAAT	0.353			T	EWSR1	clear cell sarcoma|angiomatoid fibrous histiocytoma								T	208432253	C	T	208432253	4	4	27	1	0	0	0	0	0	1	0	0	3854	760	27	1	384	1	CREB1	2	208432253	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	606587	208432253	34767120	1370	25321											
PLEKHM3	389072	broad.mit.edu	37	chr2	208841586	208841586	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcagagcctccatccattcCtgagccctctgtcgggtctc	8	16	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:208841586C>A	uc002vcl.2	-	3	1825	c.1335G>T	c.(1333-1335)CAG>CAT	p.Q445H	PLEKHM3_uc002vcm.2_Missense_Mutation_p.Q445H	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M,	445	PH 2.				intracellular signal transduction		metal ion binding			ovary(1)	1						CCATCCATTCCTGAGCCCTCT	0.537													A	208841586	C	A	208841586	3	1	27	1	0	0	0	0	1	0	0	0	12082	680	24	5	974	5	PLEKHM3	2	208841586	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	409333	208841586	34357787	1371	25322											
CRYGC	1420	broad.mit.edu	37	chr2	208993087	208993087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccagcacgtggagggaaCggatctcgctgaggtggaag	16	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:208993087C>T	uc002vco.3	-	3	403	c.365G>A	c.(364-366)CGT>CAT	p.R122H		NM_020989	NP_066269	P07315	CRGC_HUMAN	crystallin, gamma C	122	Beta/gamma crystallin 'Greek key' 3.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens				0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GTGGAGGGAACGGATCTCGCT	0.632													T	208993087	C	T	208993087	3	4	27	1	0	0	0	0	1	0	0	0	3916	536	19	1	163	1	CRYGC	2	208993087	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	151501	208993087	34206286	1372	25323											
IDH1	3417	broad.mit.edu	37	chr2	209113132	209113132	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgacctatgatgataggtttTacccatccactcacaagccg	7	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:209113132T>C	uc002vcs.2	-	4	621	c.375A>G	c.(373-375)GTA>GTG	p.V125V	IDH1_uc002vct.2_Silent_p.V125V|IDH1_uc002vcu.2_Silent_p.V125V	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	125					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TGATAGGTTTTACCCATCCAC	0.418			Mis		gliobastoma 								C	209113132	T	C	209113132	2	2	27	1	0	0	0	0	0	0	0	1	7494	1741	61	3		3	IDH1	2	209113132	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	120045	209113132	34086241	1373	25324											
PIKFYVE	200576	broad.mit.edu	37	chr2	209165682	209165682	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagtgtgcagttaaaagacCtgtggaaaaaaatctgccat	9	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:209165682C>A	uc002vcz.2	+	9	1230	c.1072C>A	c.(1072-1074)CTG>ATG	p.L358M	PIKFYVE_uc010fun.1_Missense_Mutation_p.L39M|PIKFYVE_uc002vcy.1_Missense_Mutation_p.L358M|PIKFYVE_uc002vcv.2_Missense_Mutation_p.L261M|PIKFYVE_uc002vcw.2_Missense_Mutation_p.L358M|PIKFYVE_uc002vcx.2_Missense_Mutation_p.L272M	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	358					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						GTTAAAAGACCTGTGGAAAAA	0.403													A	209165682	C	A	209165682	3	1	27	1	0	0	0	0	1	0	0	0	11924	680	24	5	1102	5	PIKFYVE	2	209165682	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	52550	209165682	34033691	1374	25325											
PTH2R	5746	broad.mit.edu	37	chr2	209271804	209271804	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcgctccacgtctggggTtggctaatgctcggcagctg	15	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:209271804T>C	uc002vdb.2	+	1	249	c.36T>C	c.(34-36)GGT>GGC	p.G12G	PTH2R_uc010zjb.1_Intron	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	12						integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		ACGTCTGGGGTTGGCTAATGC	0.657													C	209271804	T	C	209271804	2	2	27	1	0	0	0	0	0	0	0	1	12760	1712	60	3		3	PTH2R	2	209271804	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	106122	209271804	33927569	1375	25326											
PTH2R	5746	broad.mit.edu	37	chr2	209307125	209307125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctctatgtaatgtataccGttggctactccatctctttt	6	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:209307125G>A	uc002vdb.2	+	5	661	c.448G>A	c.(448-450)GTT>ATT	p.V150I	PTH2R_uc010zjb.1_Missense_Mutation_p.V161I	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	150	Helical; Name=1; (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AATGTATACCGTTGGCTACTC	0.418													A	209307125	G	A	209307125	3	1	27	1	0	0	0	0	1	0	0	0	12760	1145	40	1	466	1	PTH2R	2	209307125	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	35321	209307125	33892248	1376	25327											
PTH2R	5746	broad.mit.edu	37	chr2	209353840	209353840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggctcgggtgggagatcCgcatgcactgtgagctcttc	15	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:209353840C>T	uc002vdb.2	+	11	1393	c.1180C>T	c.(1180-1182)CGC>TGC	p.R394C	PTH2R_uc010zjb.1_Missense_Mutation_p.R405C|PTH2R_uc010fuo.1_RNA	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	394	Extracellular (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GTGGGAGATCCGCATGCACTG	0.483													T	209353840	C	T	209353840	3	4	27	1	0	0	0	0	1	0	0	0	12760	652	23	1	1222	1	PTH2R	2	209353840	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	46715	209353840	33845533	1377	25328											
PTH2R	5746	broad.mit.edu	37	chr2	209353869	209353869	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgagctcttcttcaactcCtttcaggtaaagggtgctgc	10	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:209353869C>T	uc002vdb.2	+	11	1422	c.1209C>T	c.(1207-1209)TCC>TCT	p.S403S	PTH2R_uc010zjb.1_Silent_p.S414S|PTH2R_uc010fuo.1_RNA	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	403	Helical; Name=7; (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TCTTCAACTCCTTTCAGGTAA	0.468													T	209353869	C	T	209353869	2	4	27	1	0	0	0	0	0	0	0	1	12760	668	24	4		4	PTH2R	2	209353869	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	29	209353869	33845504	1378	25329											
MAP2	4133	broad.mit.edu	37	chr2	210560092	210560092	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaaacatagatgatagaagGgcaacagagctaaaacttga	9	6	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:210560092G>T	uc002vde.1	+	7	3446	c.3198G>T	c.(3196-3198)AGG>AGT	p.R1066S	MAP2_uc002vdc.1_Missense_Mutation_p.R1066S|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.R1062S	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1066					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ATGATAGAAGGGCAACAGAGC	0.473													T	210560092	G	T	210560092	3	4	27	1	0	0	0	0	1	0	0	0	9235	1223	43	5	3212	5	MAP2	2	210560092	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1206223	210560092	32639281	1379	25330											
C2orf67	151050	broad.mit.edu	37	chr2	210887769	210887769	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatggtggccattctctggTacactggtaccgaagatttc	12	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:210887769T>C	uc002vds.2	-	15	3076	c.2868A>G	c.(2866-2868)GTA>GTG	p.V956V	C2orf67_uc002vdt.2_Silent_p.V914V	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	956										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)		CATTCTCTGGTACACTGGTAC	0.408													C	210887769	T	C	210887769	2	2	27	1	0	0	0	0	0	0	0	1	2186	1625	57	3		3	C2orf67	2	210887769	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	327677	210887769	32311604	1380	25331											
C2orf67	151050	broad.mit.edu	37	chr2	210892042	210892042	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctttgcctaaattatatTcatccaaaggctgaagaaca	5	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:210892042T>C	uc002vds.2	-	12	2637	c.2429A>G	c.(2428-2430)GAA>GGA	p.E810G	C2orf67_uc002vdt.2_Missense_Mutation_p.E768G	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	810										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)		TAAATTATATTCATCCAAAGG	0.328													C	210892042	T	C	210892042	3	2	27	1	0	0	0	0	1	0	0	0	2186	1783	62	3	550	3	C2orf67	2	210892042	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4273	210892042	32307331	1381	25332											
C2orf67	151050	broad.mit.edu	37	chr2	210896271	210896271	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgattcagagtactatgtaCtaaaacaaatgaaaaggaaa	7	4	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:210896271C>G	uc002vds.2	-	9	2238	c.2030_splice	c.e9-1	p.V677_splice	C2orf67_uc002vdt.2_Intron|uc002vdu.1_Intron	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050											ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)		GTACTATGTACTAAAACAAAT	0.318													G	210896271	C	G	210896271	5	3	27	1	0	0	0	0	0	0	1	0	2186	579	20	5	962	5	C2orf67	2	210896271	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4229	210896271	32303102	1382	25333											
LANCL1	10314	broad.mit.edu	37	chr2	211319880	211319880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgttcatcttgtgatataGcacagcggccactgccaggg	11	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:211319880G>A	uc010zjh.1	-	4	433	c.358C>T	c.(358-360)CTA>TTA	p.L120L	LANCL1_uc002ved.2_Silent_p.L120L|LANCL1_uc010fuq.2_Silent_p.L120L	NM_001136574	NP_001130046	O43813	LANC1_HUMAN	lanthionine synthetase C-like protein 1	120						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding				0				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TTGTGATATAGCACAGCGGCC	0.443													A	211319880	G	A	211319880	2	1	27	1	0	0	0	0	0	0	0	1	8620	962	34	2		2	LANCL1	2	211319880	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	423609	211319880	31879493	1383	25334											
ERBB4	2066	broad.mit.edu	37	chr2	212293210	212293210	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccatccatttaattggcatcTatagagaagtaagaagtaaa	7	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:212293210T>A	uc002veg.1	-	22	2742	c.2644_splice	c.e22-1	p.M882_splice	ERBB4_uc002veh.1_Splice_Site_p.M882_splice|ERBB4_uc010zji.1_Splice_Site_p.M872_splice|ERBB4_uc010zjj.1_Splice_Site_p.M872_splice	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene						cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AATTGGCATCTATAGAGAAGT	0.318										TSP Lung(8;0.080)			A	212293210	T	A	212293210	5	1	27	1	0	0	0	0	0	0	1	0	5209	1536	53	5	1312	5	ERBB4	2	212293210	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	973330	212293210	30906163	1384	25335											
ERBB4	2066	broad.mit.edu	37	chr2	212570080	212570080	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtccgaaagacgttcagtttCtctgggtctatggcttcaat	10	9	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:212570080C>A	uc002veg.1	-	10	1259	c.1161G>T	c.(1159-1161)GAG>GAT	p.E387D	ERBB4_uc002veh.1_Missense_Mutation_p.E387D|ERBB4_uc010zji.1_Missense_Mutation_p.E387D|ERBB4_uc010zjj.1_Missense_Mutation_p.E387D|ERBB4_uc010fut.1_Missense_Mutation_p.E387D	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	387	Extracellular (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CGTTCAGTTTCTCTGGGTCTA	0.323										TSP Lung(8;0.080)			A	212570080	C	A	212570080	3	1	27	1	0	0	0	0	1	0	0	0	5209	912	32	5	2841	5	ERBB4	2	212570080	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	276870	212570080	30629293	1385	25336											
IKZF2	22807	broad.mit.edu	37	chr2	213914553	213914553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgtgtctcagaaggttgCccttctgagtaaaagaagct	10	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:213914553C>T	uc002vem.2	-	5	627	c.458G>A	c.(457-459)GGC>GAC	p.G153D	IKZF2_uc010fuu.2_Intron|IKZF2_uc002vej.2_Missense_Mutation_p.G100D|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.G127D|IKZF2_uc002vel.2_Missense_Mutation_p.G74D|IKZF2_uc010fuw.2_5'UTR|IKZF2_uc010fux.2_5'UTR|IKZF2_uc010fuy.2_Missense_Mutation_p.G127D|IKZF2_uc002ven.2_Missense_Mutation_p.G127D	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	helios isoform 1	153	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CAGAAGGTTGCCCTTCTGAGT	0.483													T	213914553	C	T	213914553	3	4	27	1	0	0	0	0	1	0	0	0	7615	739	26	2	1138	2	IKZF2	2	213914553	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1344473	213914553	29284820	1386	25337											
SPAG16	79582	broad.mit.edu	37	chr2	215275016	215275016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttttctggaggctctgacGgcacagttcgaacgtggtct	12	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:215275016G>A	uc002veq.2	+	16	1965	c.1873G>A	c.(1873-1875)GGC>AGC	p.G625S	SPAG16_uc002ver.2_Missense_Mutation_p.G571S|SPAG16_uc010zjk.1_Missense_Mutation_p.G531S|VWC2L_uc002vet.2_5'Flank|VWC2L_uc010zjl.1_5'Flank	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	625	WD 7.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGGCTCTGACGGCACAGTTCG	0.512													A	215275016	G	A	215275016	3	1	27	1	0	0	0	0	1	0	0	0	14978	1116	39	1	1951	1	SPAG16	2	215275016	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1360463	215275016	27924357	1387	25338											
BARD1	580	broad.mit.edu	37	chr2	215645635	215645635	+	Frame_Shift_Del	DEL	T	T	-													agtctattgtgatggccacgTtttccattattttctaatgg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:215645634_215645634GT>G	uc002veu.2	-	3	1099	c.964_964AC>C	c.(964-966)cgtfs	p.R322fs	BARD1_uc021vwe.1_Frame_Shift_Del_p.R303fs|BARD1_uc021vwf.1_Frame_Shift_Del_p.R225fs|BARD1_uc021vwg.1_Intron|BARD1_uc021vwh.1_Intron|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Intron|BARD1_uc010zjm.1_Frame_Shift_Del_p.R178fs|BARD1_uc021vwj.1_Intron	NM_000465	NP_000456	Q99728	BARD1_HUMAN	Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.	322					DNA repair|cell cycle arrest|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	RNA binding|kinase binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGATGGCCACGTTTTCCATTA	0.408									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				-	215645635	T	-	215645635	7	5	27	1	0	1	0	1	0	0	0	0	1312	1722	60	0	1402	0	BARD1	2	215645635	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	370619	215645635	27553738	1388	25339											
ABCA12	26154	broad.mit.edu	37	chr2	215833442	215833442	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaaaagatcaaaatttAccttggcaagtgttctattg	7	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:215833442A>G	uc002vew.2	-	38	5998	c.5778_splice	c.e38+1	p.K1926_splice	ABCA12_uc002vev.2_Splice_Site_p.K1608_splice|ABCA12_uc010zjn.1_Splice_Site_p.K853_splice	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12						cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATCAAAATTTACCTTGGCAAG	0.353													G	215833442	A	G	215833442	5	3	27	1	0	0	0	0	0	0	1	0	30	405	14	3	2071	3	ABCA12	2	215833442	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	187807	215833442	27365931	1389	25340											
ABCA12	26154	broad.mit.edu	37	chr2	215847077	215847077	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttccaactctcttatgacgAtggctatatagtccagtatc	7	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:215847077A>T	uc002vew.2	-	30	4633	c.4413T>A	c.(4411-4413)CAT>CAA	p.H1471Q	ABCA12_uc002vev.2_Missense_Mutation_p.H1153Q|ABCA12_uc010zjn.1_Missense_Mutation_p.H398Q	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1471	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCTTATGACGATGGCTATATA	0.343													T	215847077	A	T	215847077	3	4	27	1	0	0	0	0	1	0	0	0	30	330	12	5	3470	5	ABCA12	2	215847077	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	13635	215847077	27352296	1390	25341											
ABCA12	26154	broad.mit.edu	37	chr2	215851381	215851381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatagatctttgtgacccCatgcagggcaaccccgactg	10	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:215851381C>T	uc002vew.2	-	28	4268	c.4048G>A	c.(4048-4050)GGG>AGG	p.G1350R	ABCA12_uc002vev.2_Missense_Mutation_p.G1032R|ABCA12_uc010zjn.1_Missense_Mutation_p.G277R	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1350	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTGTGACCCCATGCAGGGCA	0.453													T	215851381	C	T	215851381	3	4	27	1	0	0	0	0	1	0	0	0	30	594	21	4	3843	4	ABCA12	2	215851381	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4304	215851381	27347992	1391	25342											
ABCA12	26154	broad.mit.edu	37	chr2	215855563	215855563	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagacactgataagatAgctcatggcaataaccgaga	10	7	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:215855563A>G	uc002vew.2	-	24	3707	c.3487T>C	c.(3487-3489)TAT>CAT	p.Y1163H	ABCA12_uc002vev.2_Missense_Mutation_p.Y845H|ABCA12_uc010zjn.1_Missense_Mutation_p.Y90H	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1163	Helical; (Potential).				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGATAAGATAGCTCATGGCA	0.383													G	215855563	A	G	215855563	3	3	27	1	0	0	0	0	1	0	0	0	30	420	15	3	4420	3	ABCA12	2	215855563	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4182	215855563	27343810	1392	25343											
ABCA12	26154	broad.mit.edu	37	chr2	215901775	215901775	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacgtggataaaccttctgcAcaaccagcagcacactaagg	8	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:215901775A>G	uc002vew.2	-	8	1107	c.887T>C	c.(886-888)GTG>GCG	p.V296A	ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	296					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.V296V(1)		ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AACCTTCTGCACAACCAGCAG	0.423													G	215901775	A	G	215901775	3	3	27	1	0	0	0	0	1	0	0	0	30	159	6	3	7115	3	ABCA12	2	215901775	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	46212	215901775	27297598	1393	25344											
ABCA12	26154	broad.mit.edu	37	chr2	215928846	215928846	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagcagatcttgtgggccaTagggtgtgtctttgcattta	13	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:215928846T>C	uc002vew.2	-	3	480	c.260A>G	c.(259-261)TAT>TGT	p.Y87C	ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	87					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTGTGGGCCATAGGGTGTGTC	0.453													C	215928846	T	C	215928846	3	2	27	1	0	0	0	0	1	0	0	0	30	1406	49	3	7762	3	ABCA12	2	215928846	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	27071	215928846	27270527	1394	25345											
ATIC	471	broad.mit.edu	37	chr2	216184396	216184396	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttttaaattaggaatcctaGctcgtaatattccagaagat	6	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:216184396G>T	uc002vex.3	+	4	406	c.232G>T	c.(232-234)GCT>TCT	p.A78S	ATIC_uc010zjo.1_Missense_Mutation_p.A19S|ATIC_uc002vey.3_Missense_Mutation_p.A77S	NM_004044	NP_004035	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide	78					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	AGGAATCCTAGCTCGTAATAT	0.299			T	ALK	ALCL								T	216184396	G	T	216184396	3	4	27	1	0	0	0	0	1	0	0	0	1105	971	34	5	246	5	ATIC	2	216184396	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	255550	216184396	27014977	1395	25346											
ATIC	471	broad.mit.edu	37	chr2	216211630	216211630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagcagaaatctccaatgCcatcgatcaatatgtgactg	9	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:216211630C>T	uc002vex.3	+	14	1643	c.1469C>T	c.(1468-1470)GCC>GTC	p.A490V	ATIC_uc010zjo.1_Missense_Mutation_p.A431V|ATIC_uc002vey.3_Missense_Mutation_p.A489V	NM_004044	NP_004035	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide	490					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	ATCTCCAATGCCATCGATCAA	0.433			T	ALK	ALCL								T	216211630	C	T	216211630	3	4	27	1	0	0	0	0	1	0	0	0	1105	739	26	2	1523	2	ATIC	2	216211630	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	27234	216211630	26987743	1396	25347											
FN1	2335	broad.mit.edu	37	chr2	216241350	216241350	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccagctaatggtgatggTggtctcagtagcatctgtca	11	9	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:216241350T>C	uc002vfa.2	-	36	6024	c.5758A>G	c.(5758-5760)ACC>GCC	p.T1920A	FN1_uc002vfb.2_Missense_Mutation_p.T1739A|FN1_uc002vfc.2_Missense_Mutation_p.T1739A|FN1_uc002vfd.2_Missense_Mutation_p.T1920A|FN1_uc002vfe.2_Missense_Mutation_p.T1829A|FN1_uc002vff.2_Missense_Mutation_p.T1829A|FN1_uc002vfg.2_Missense_Mutation_p.T1739A|FN1_uc002vfh.2_Missense_Mutation_p.T1739A|FN1_uc002vfi.2_Missense_Mutation_p.T1920A|FN1_uc002vfj.2_Missense_Mutation_p.T1830A|FN1_uc002vez.2_Missense_Mutation_p.T114A|FN1_uc010zjp.1_Missense_Mutation_p.T457A|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA|FN1_uc010fvc.1_Missense_Mutation_p.T282A|FN1_uc010fvd.1_Intron	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGGTGATGGTGGTCTCAGTA	0.512													C	216241350	T	C	216241350	3	2	27	1	0	0	0	0	1	0	0	0	5962	1696	59	3	1719	3	FN1	2	216241350	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	29720	216241350	26958023	1397	25348											
FN1	2335	broad.mit.edu	37	chr2	216245532	216245532	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgcaattaaccatatAcctgtggactgggttccaat	11	8	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:216245532A>T	uc002vfa.2	-	33	5700	c.5434_splice	c.e33+1	p.A1812_splice	FN1_uc002vfb.2_Intron|FN1_uc002vfc.2_Intron|FN1_uc002vfd.2_Splice_Site_p.A1812_splice|FN1_uc002vfe.2_Splice_Site_p.A1721_splice|FN1_uc002vff.2_Splice_Site_p.A1721_splice|FN1_uc002vfg.2_Intron|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Splice_Site_p.A1812_splice|FN1_uc002vfj.2_Intron|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Intron|FN1_uc002vfk.1_5'Flank|FN1_uc010fva.1_5'Flank|FN1_uc010fvb.1_5'Flank|FN1_uc010fvc.1_Splice_Site_p.A174_splice|FN1_uc010fvd.1_Intron	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein						acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTAACCATATACCTGTGGACT	0.527													T	216245532	A	T	216245532	5	4	27	1	0	0	0	0	0	0	1	0	5962	405	14	5	2053	5	FN1	2	216245532	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4182	216245532	26953841	1398	25349											
FN1	2335	broad.mit.edu	37	chr2	216269191	216269191	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatacggtgtactcagatgcAggctgcagattcctcagtgg	13	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:216269191A>G	uc002vfa.2	-	20	3440	c.3174T>C	c.(3172-3174)CCT>CCC	p.P1058P	FN1_uc002vfb.2_Silent_p.P1058P|FN1_uc002vfc.2_Silent_p.P1058P|FN1_uc002vfd.2_Silent_p.P1058P|FN1_uc002vfe.2_Silent_p.P1058P|FN1_uc002vff.2_Silent_p.P1058P|FN1_uc002vfg.2_Silent_p.P1058P|FN1_uc002vfh.2_Silent_p.P1058P|FN1_uc002vfi.2_Silent_p.P1058P|FN1_uc002vfj.2_Silent_p.P1058P	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1058	|Fibronectin type-III 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTCAGATGCAGGCTGCAGAT	0.547													G	216269191	A	G	216269191	2	3	27	1	0	0	0	0	0	0	0	1	5962	175	7	3		3	FN1	2	216269191	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	23659	216269191	26930182	1399	25350											
FN1	2335	broad.mit.edu	37	chr2	216272839	216272839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttagctgacctgtgatgGgagcctggggtctgctccag	15	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:216272839G>A	uc002vfa.2	-	17	2776	c.2510C>T	c.(2509-2511)CCC>CTC	p.P837L	FN1_uc002vfb.2_Missense_Mutation_p.P837L|FN1_uc002vfc.2_Missense_Mutation_p.P837L|FN1_uc002vfd.2_Missense_Mutation_p.P837L|FN1_uc002vfe.2_Missense_Mutation_p.P837L|FN1_uc002vff.2_Missense_Mutation_p.P837L|FN1_uc002vfg.2_Missense_Mutation_p.P837L|FN1_uc002vfh.2_Missense_Mutation_p.P837L|FN1_uc002vfi.2_Missense_Mutation_p.P837L|FN1_uc002vfj.2_Missense_Mutation_p.P837L	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	837	Fibronectin type-III 3.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTGTGATGGGAGCCTGGGG	0.527													A	216272839	G	A	216272839	3	1	27	1	0	0	0	0	1	0	0	0	5962	1232	43	4	5043	4	FN1	2	216272839	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3648	216272839	26926534	1400	25351											
FN1	2335	broad.mit.edu	37	chr2	216273076	216273076	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccccatcctcagatatctgAtagacatttacaatgtattt	4	10	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:216273076A>T	uc002vfa.2	-	16	2639	c.2373T>A	c.(2371-2373)TAT>TAA	p.Y791*	FN1_uc002vfb.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfc.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfd.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfe.2_Nonsense_Mutation_p.Y791*|FN1_uc002vff.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfg.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfh.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfi.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfj.2_Nonsense_Mutation_p.Y791*	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	791	Fibronectin type-III 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGATATCTGATAGACATTTA	0.388													T	216273076	A	T	216273076	4	4	27	1	0	0	0	0	0	1	0	0	5962	340	12	5	5184	5	FN1	2	216273076	Nonsense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	237	216273076	26926297	1401	25352											
FN1	2335	broad.mit.edu	37	chr2	216300512	216300512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagcagcccgggccccGgacccctaagcatgttgaga	13	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:216300512G>A	uc002vfa.2	-	1	280	c.14C>T	c.(13-15)CCG>CTG	p.P5L	FN1_uc002vfb.2_Missense_Mutation_p.P5L|FN1_uc002vfc.2_Missense_Mutation_p.P5L|FN1_uc002vfd.2_Missense_Mutation_p.P5L|FN1_uc002vfe.2_Missense_Mutation_p.P5L|FN1_uc002vff.2_Missense_Mutation_p.P5L|FN1_uc002vfg.2_Missense_Mutation_p.P5L|FN1_uc002vfh.2_Missense_Mutation_p.P5L|FN1_uc002vfi.2_Missense_Mutation_p.P5L|FN1_uc002vfj.2_Missense_Mutation_p.P5L|FN1_uc002vfl.2_Missense_Mutation_p.P5L	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	5					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCGGGCCCCGGACCCCTAAG	0.647													A	216300512	G	A	216300512	3	1	27	1	0	0	0	0	1	0	0	0	5962	1116	39	1	7636	1	FN1	2	216300512	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	27436	216300512	26898861	1402	25353											
MREG	55686	broad.mit.edu	37	chr2	216810365	216810365	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcttcagccagttttaAcaacatctctcgagctttcc	6	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:216810365A>G	uc002vfo.2	-	4	735	c.439T>C	c.(439-441)TTA>CTA	p.L147L	MREG_uc002vfq.2_RNA	NM_018000	NP_060470	Q8N565	MREG_HUMAN	whn-dependent transcript 2	147						apical plasma membrane					0		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		GCCAGTTTTAACAACATCTCT	0.393													G	216810365	A	G	216810365	2	3	27	1	0	0	0	0	0	0	0	1	9760	40	2	3		3	MREG	2	216810365	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	509853	216810365	26389008	1403	25354											
XRCC5	7520	broad.mit.edu	37	chr2	216981555	216981555	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatccaaccaggttctcaAcaggctgactgtatcctttt	6	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:216981555A>G	uc002vfy.2	+	3	449	c.309A>G	c.(307-309)CAA>CAG	p.Q103Q	XRCC5_uc002vfz.2_5'Flank	NM_021141	NP_066964	P13010	XRCC5_HUMAN	ATP-dependent DNA helicase II	103					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			lung(1)|kidney(1)	2		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		CAGGTTCTCAACAGGCTGACT	0.433								Direct_reversal_of_damage|NHEJ					G	216981555	A	G	216981555	2	3	27	1	0	0	0	0	0	0	0	1	17453	40	2	3		3	XRCC5	2	216981555	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	171190	216981555	26217818	1404	25355											
SMARCAL1	50485	broad.mit.edu	37	chr2	217280157	217280157	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagggaaagtgcgtaaggAacggcgatcgtttccaggtg	16	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:217280157A>G	uc002vgc.3	+	3	1060	c.730A>G	c.(730-732)AAC>GAC	p.N244D	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.N244D|SMARCAL1_uc010fvg.2_Missense_Mutation_p.N244D	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	244					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GTGCGTAAGGAACGGCGATCG	0.478									Schimke_Immuno-Osseous_Dysplasia				G	217280157	A	G	217280157	3	3	27	1	0	0	0	0	1	0	0	0	14773	246	9	3	732	3	SMARCAL1	2	217280157	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	298602	217280157	25919216	1405	25356											
IGFBP5	3488	broad.mit.edu	37	chr2	217542921	217542921	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctggctttgagctcctGcagggaagcctccatgtgtc	14	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:217542921G>A	uc002vgj.3	-	3	1375	c.601C>T	c.(601-603)CAG>TAG	p.Q201*		NM_000599	NP_000590	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	201	Thyroglobulin type-1.				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding				0		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGAGCTCCTGCAGGGAAGCC	0.612													A	217542921	G	A	217542921	4	1	27	1	0	0	0	0	0	1	0	0	7582	1328	46	2	225	2	IGFBP5	2	217542921	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	262764	217542921	25656452	1406	25357											
TNS1	7145	broad.mit.edu	37	chr2	218669296	218669296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcgttgtccgtggtgctGccctgcttccgggccacgaa	14	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:218669296G>A	uc002vgt.2	-	33	5492	c.5094C>T	c.(5092-5094)GGC>GGT	p.G1698G	TNS1_uc002vgr.2_Silent_p.G1684G|TNS1_uc002vgs.2_Silent_p.G1677G|TNS1_uc002vgq.2_Silent_p.G198G	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1698						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCGTGGTGCTGCCCTGCTTCC	0.642													A	218669296	G	A	218669296	2	1	27	1	0	0	0	0	0	0	0	1	16340	1306	46	2		2	TNS1	2	218669296	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1126375	218669296	24530077	1407	25358											
TNS1	7145	broad.mit.edu	37	chr2	218712549	218712549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggctcaggggttcccaaCgaatgcccactggggatata	13	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:218712549C>T	uc002vgt.2	-	17	2714	c.2316G>A	c.(2314-2316)TCG>TCA	p.S772S	TNS1_uc002vgr.2_Silent_p.S772S|TNS1_uc002vgs.2_Silent_p.S772S|TNS1_uc010zjv.1_Silent_p.S772S|TNS1_uc010fvj.1_Silent_p.S840S|TNS1_uc010fvk.1_Silent_p.S897S|TNS1_uc010fvi.1_Silent_p.S459S	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	772						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGGTTCCCAACGAATGCCCAC	0.602													T	218712549	C	T	218712549	2	4	27	1	0	0	0	0	0	0	0	1	16340	523	19	1		1	TNS1	2	218712549	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	43253	218712549	24486824	1408	25359											
CXCR2	3579	broad.mit.edu	37	chr2	218999581	218999581	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatttctggaaaggtgaagaTcttagtaattacagttacag	10	4	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:218999581T>A	uc002vgz.1	+	4	282	c.57T>A	c.(55-57)GAT>GAA	p.D19E	CXCR2_uc002vha.1_Missense_Mutation_p.D19E|CXCR2_uc002vhb.1_Missense_Mutation_p.D19E	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	19	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)|breast(1)	2						AAGGTGAAGATCTTAGTAATT	0.403													A	218999581	T	A	218999581	3	1	27	1	0	0	0	0	1	0	0	0	4091	1432	50	5	59	5	CXCR2	2	218999581	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	287032	218999581	24199792	1409	25360											
CXCR2	3579	broad.mit.edu	37	chr2	219000013	219000013	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaagcgctacttggtcaaAttcatatgtctcagcatctg	8	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:219000013A>C	uc002vgz.1	+	4	714	c.489A>C	c.(487-489)AAA>AAC	p.K163N	CXCR2_uc002vha.1_Missense_Mutation_p.K163N|CXCR2_uc002vhb.1_Missense_Mutation_p.K163N	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	163	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)|breast(1)	2						ACTTGGTCAAATTCATATGTC	0.537													C	219000013	A	C	219000013	3	2	27	1	0	0	0	0	1	0	0	0	4091	98	4	5	491	5	CXCR2	2	219000013	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	432	219000013	24199360	1410	25361											
CXCR1	3577	broad.mit.edu	37	chr2	219029676	219029676	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcaaggtcagggcaaagaGtaggtcggccaaggccaggt	18	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:219029676G>T	uc002vhc.2	-	2	378	c.259C>A	c.(259-261)CTC>ATC	p.L87I		NM_000634	NP_000625	P25024	CXCR1_HUMAN	interleukin 8 receptor alpha	87	Helical; Name=2; (Potential).				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			lung(2)	2						AGGGCAAAGAGTAGGTCGGCC	0.567													T	219029676	G	T	219029676	3	4	27	1	0	0	0	0	1	0	0	0	4090	1029	36	5	797	5	CXCR1	2	219029676	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	29663	219029676	24169697	1411	25362											
PNKD	25953	broad.mit.edu	37	chr2	219209631	219209631	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccggggccgggccccactgGggatgatgactactcccggg	17	14	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:219209631G>T	uc002vhn.2	+	10	1229	c.1085G>T	c.(1084-1086)GGG>GTG	p.G362V	PNKD_uc002vhq.2_Missense_Mutation_p.G338V	NM_015488	NP_056303	Q8N490	PNKD_HUMAN	myofibrillogenesis regulator 1 isoform 1	362						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding				0		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCCCACTGGGGATGATGAC	0.672													T	219209631	G	T	219209631	3	4	27	1	0	0	0	0	1	0	0	0	12146	1232	43	5	1488	5	PNKD	2	219209631	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	179955	219209631	23989742	1412	25363											
CTDSP1	58190	broad.mit.edu	37	chr2	219267084	219267084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccacagccagtgaacaacGcggacttcatcatccctgtg	8	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:219267084G>A	uc002vhy.2	+	4	670	c.334G>A	c.(334-336)GCG>ACG	p.A112T	CTDSP1_uc002vhx.2_Missense_Mutation_p.A111T|CTDSP1_uc002vhz.2_5'UTR|uc010zkd.1_5'Flank|MIR26B_hsa-mir-26b|MI0000084_5'Flank	NM_021198	NP_067021	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	112	FCP1 homology.				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			ovary(1)	1		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTGAACAACGCGGACTTCAT	0.637													A	219267084	G	A	219267084	3	1	27	1	0	0	0	0	1	0	0	0	4003	1087	38	1	348	1	CTDSP1	2	219267084	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	57453	219267084	23932289	1413	25364											
USP37	57695	broad.mit.edu	37	chr2	219350422	219350422	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatttgtgcctgacaagagcAcacttcccaccacacttctc	5	15	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:219350422A>T	uc002vie.2	-	16	2088	c.1635T>A	c.(1633-1635)TGT>TGA	p.C545*	USP37_uc010fvs.1_Nonsense_Mutation_p.C545*|USP37_uc010zkf.1_Nonsense_Mutation_p.C545*|USP37_uc002vif.2_Nonsense_Mutation_p.C545*|USP37_uc002vig.2_Nonsense_Mutation_p.C473*	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	545					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TGACAAGAGCACACTTCCCAC	0.338													T	219350422	A	T	219350422	4	4	27	1	0	0	0	0	0	1	0	0	17065	157	6	5	1348	5	USP37	2	219350422	Nonsense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	83338	219350422	23848951	1414	25365											
USP37	57695	broad.mit.edu	37	chr2	219411702	219411702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcaaagaaggaatcgtcCgagctattccacttcctgct	8	11	1	1	rs141437175		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:219411702C>T	uc002vie.2	-	7	995	c.542G>A	c.(541-543)CGG>CAG	p.R181Q	USP37_uc010fvs.1_Missense_Mutation_p.R181Q|USP37_uc010zkf.1_Missense_Mutation_p.R181Q|USP37_uc002vif.2_Missense_Mutation_p.R181Q|USP37_uc002vig.2_Missense_Mutation_p.R109Q|USP37_uc010zkg.1_Missense_Mutation_p.R181Q	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	181					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		AGGAATCGTCCGAGCTATTCC	0.403													T	219411702	C	T	219411702	3	4	27	1	0	0	0	0	1	0	0	0	17065	652	23	1	2477	1	USP37	2	219411702	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	61280	219411702	23787671	1415	25366											
PLCD4	84812	broad.mit.edu	37	chr2	219487417	219487417	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaggagaagaattcgtAcagttctataaggcattgac	11	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:219487417A>G	uc002vij.1	+	6	783	c.588A>G	c.(586-588)GTA>GTG	p.V196V	PLCD4_uc002vik.1_Silent_p.V43V|PLCD4_uc010zkk.1_Intron	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	196	EF-hand 2.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)	3		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AAGAATTCGTACAGTTCTATA	0.443													G	219487417	A	G	219487417	2	3	27	1	0	0	0	0	0	0	0	1	12033	378	14	3		3	PLCD4	2	219487417	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	75715	219487417	23711956	1416	25367											
ZNF142	7701	broad.mit.edu	37	chr2	219508288	219508288	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggagtttcctgcaggagggActgggtcaaagcagtgcttc	15	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:219508288A>T	uc002vin.2	-	8	3387	c.2951T>A	c.(2950-2952)GTC>GAC	p.V984D	ZNF142_uc002vil.2_Missense_Mutation_p.V945D|ZNF142_uc010fvt.2_Missense_Mutation_p.V821D|ZNF142_uc002vim.2_Missense_Mutation_p.V821D	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	984					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCAGGAGGGACTGGGTCAAA	0.592													T	219508288	A	T	219508288	3	4	27	1	0	0	0	0	1	0	0	0	17728	275	10	5	2124	5	ZNF142	2	219508288	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	20871	219508288	23691085	1417	25368											
RNF25	64320	broad.mit.edu	37	chr2	219528796	219528796	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtgtccggcctttagagcGctcccagcgaacacagtccc	12	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:219528796G>T	uc002vit.2	-	10	1352	c.1264C>A	c.(1264-1266)CGC>AGC	p.R422S	RNF25_uc010fvw.2_Missense_Mutation_p.R310S	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	422					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTTTAGAGCGCTCCCAGCGA	0.667													T	219528796	G	T	219528796	3	4	27	1	0	0	0	0	1	0	0	0	13485	1087	38	5	119	5	RNF25	2	219528796	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	20508	219528796	23670577	1418	25369											
RNF25	64320	broad.mit.edu	37	chr2	219528942	219528942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggggcccctcaggaggtGgcagttcctgggtgtcacgg	18	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:219528942G>A	uc002vit.2	-	10	1206	c.1118C>T	c.(1117-1119)CCA>CTA	p.P373L	RNF25_uc010fvw.2_Missense_Mutation_p.P261L	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	373					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCAGGAGGTGGCAGTTCCTG	0.642													A	219528942	G	A	219528942	3	1	27	1	0	0	0	0	1	0	0	0	13485	1348	47	4	265	4	RNF25	2	219528942	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	146	219528942	23670431	1419	25370											
STK36	27148	broad.mit.edu	37	chr2	219558684	219558684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctctcccttcttgtctttCggctccaaaacctgccttgt	5	16	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:219558684C>T	uc002viu.2	+	19	2580	c.2314C>T	c.(2314-2316)CGG>TGG	p.R772W	STK36_uc002viv.2_Missense_Mutation_p.R772W|STK36_uc002viw.2_5'Flank|STK36_uc002vix.2_5'Flank	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	772					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TCTTGTCTTTCGGCTCCAAAA	0.443													T	219558684	C	T	219558684	3	4	27	1	0	0	0	0	1	0	0	0	15301	875	31	1	2384	1	STK36	2	219558684	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	29742	219558684	23640689	1420	25371											
TTLL4	9654	broad.mit.edu	37	chr2	219603528	219603528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgtcctcaacaggagcAggcggtggaaacctcctgcg	14	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:219603528A>G	uc002viy.2	+	3	1499	c.1129A>G	c.(1129-1131)AGG>GGG	p.R377G	TTLL4_uc010zkl.1_Missense_Mutation_p.R212G|TTLL4_uc010fvx.2_Missense_Mutation_p.R377G	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	377					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CAACAGGAGCAGGCGGTGGAA	0.572													G	219603528	A	G	219603528	3	3	27	1	0	0	0	0	1	0	0	0	16726	179	7	3	1131	3	TTLL4	2	219603528	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	44844	219603528	23595845	1421	25372											
WNT6	7475	broad.mit.edu	37	chr2	219735872	219735872	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcagagctagctcggggCgcccggctcggggtgcgaga	20	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:219735872C>T	uc002vjc.1	+	2	419	c.204C>T	c.(202-204)GGC>GGT	p.G68G		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family,	68					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			ovary(2)|skin(1)	3		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGCTCGGGGCGCCCGGCTCG	0.677													T	219735872	C	T	219735872	2	4	27	1	0	0	0	0	0	0	0	1	17390	755	27	1		1	WNT6	2	219735872	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	132344	219735872	23463501	1422	25373											
WNT6	7475	broad.mit.edu	37	chr2	219736234	219736234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagacggccttcgtgttcgCcatcactgcggccggcgcca	14	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:219736234C>T	uc002vjc.1	+	3	544	c.329C>T	c.(328-330)GCC>GTC	p.A110V		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family,	110					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			ovary(2)|skin(1)	3		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCGTGTTCGCCATCACTGCG	0.592													T	219736234	C	T	219736234	3	4	27	1	0	0	0	0	1	0	0	0	17390	739	26	2	339	2	WNT6	2	219736234	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	362	219736234	23463139	1423	25374											
CCDC108	255101	broad.mit.edu	37	chr2	219869020	219869020	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccttcccatcctcccagcTgctggagggtacaggcagga	12	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:219869020T>C	uc002vjl.1	-	33	5293	c.5209A>G	c.(5209-5211)AGC>GGC	p.S1737G	uc010fvz.1_5'Flank|MIR375_hsa-mir-375|MI0000783_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1737						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTCCCAGCTGCTGGAGGGT	0.443													C	219869020	T	C	219869020	3	2	27	1	0	0	0	0	1	0	0	0	2743	1580	55	3	580	3	CCDC108	2	219869020	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	132786	219869020	23330353	1424	25375											
SLC23A3	151295	broad.mit.edu	37	chr2	220033490	220033490	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccacagtgggggaacacgtgGccgggactccccagcagccc	14	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:220033490G>C	uc010zks.1	-	5	669	c.558C>G	c.(556-558)GGC>GGG	p.G186G	NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Silent_p.G194G|SLC23A3_uc010fwb.2_Silent_p.G186G|SLC23A3_uc002vjs.1_Missense_Mutation_p.P39A|SLC23A3_uc002vjt.1_Silent_p.G44G	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN	solute carrier family 23 (nucleobase	186	Extracellular (Potential).				transmembrane transport	integral to membrane	protein binding|transporter activity				0		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAACACGTGGCCGGGACTCC	0.627													C	220033490	G	C	220033490	2	2	27	1	0	0	0	0	0	0	0	1	14464	1190	42	5		5	SLC23A3	2	220033490	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	164470	220033490	23165883	1425	25376											
FAM134A	79137	broad.mit.edu	37	chr2	220046854	220046854	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggccgtcctcaagctctgTcaaggcaagccctggactcg	11	14	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:220046854T>C	uc002vjw.3	+	9	1271	c.1135T>C	c.(1135-1137)TCA>CCA	p.S379P	FAM134A_uc010fwc.2_Missense_Mutation_p.S172P|FAM134A_uc002vjx.2_Missense_Mutation_p.S172P	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	hypothetical protein LOC79137	379						endoplasmic reticulum|integral to membrane				ovary(1)|central_nervous_system(1)	2		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAAGCTCTGTCAAGGCAAGC	0.597													C	220046854	T	C	220046854	3	2	27	1	0	0	0	0	1	0	0	0	5445	1667	58	3	1169	3	FAM134A	2	220046854	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	13364	220046854	23152519	1426	25377											
ABCB6	10058	broad.mit.edu	37	chr2	220083095	220083096	+	Frame_Shift_Ins	INS	-	-	C													agatagcttggcagtggggcINScccccgggcagtgcccaccc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:220083094_220083095G>GC	uc002vkc.2	-	0	2080_2081	c.301_302C>GC	c.(301-303)gccfs	p.A101fs	ABCB6_uc010fwe.2_Frame_Shift_Ins_p.A101fs|ABCB6_uc010zku.1_Non-coding_Transcript|ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vke.1_3'UTR|ATG9A_uc002vkf.1_3'UTR	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA.	101					cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	p.A101G(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCAGTGGGGCCCCCCGGGCA	0.708													C	220083096	-	C	220083095	7	5	27	1	0	1	1	0	0	0	0	0	45	739	26	0	2303	0	ABCB6	2	220083095	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	36241	220083095	23116278	1427	25378											
DNAJB2	3300	broad.mit.edu	37	chr2	220149476	220149476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcatgccccttggacagcGacctctctgaggatgaggac	11	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:220149476G>A	uc002vkx.1	+	9	979	c.742G>A	c.(742-744)GAC>AAC	p.D248N	DNAJB2_uc002vkw.1_Missense_Mutation_p.D248N|DNAJB2_uc002vky.2_Missense_Mutation_p.D64N|DNAJB2_uc010zlb.1_Missense_Mutation_p.D64N	NM_006736	NP_006727	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	248					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding				0		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGGACAGCGACCTCTCTGA	0.652													A	220149476	G	A	220149476	3	1	27	1	0	0	0	0	1	0	0	0	4620	1058	37	1	772	1	DNAJB2	2	220149476	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	66381	220149476	23049897	1428	25379											
PTPRN	5798	broad.mit.edu	37	chr2	220166975	220166976	+	Frame_Shift_Ins	INS	-	-	C													ttgctctggcagccttggcaINSccctggccctgctgggtgct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:220166975_220166976insC	uc002vkz.2	-	6	966_967	c.877_878insG	c.(877-879)GTGfs	p.V293fs	PTPRN_uc010zlc.1_Frame_Shift_Ins_p.V203fs|PTPRN_uc002vla.2_Frame_Shift_Ins_p.V293fs	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	293	Extracellular (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CAGCCTTGGCACCCTGGCCCTG	0.629													C	220166976	-	C	220166975	7	5	27	1	0	1	1	0	0	0	0	0	12807	159	6	0	2133	0	PTPRN	2	220166975	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	17499	220166975	23032398	1429	25380	84	2									
PTPRN	5798	broad.mit.edu	37	chr2	220166976	220166977	+	Frame_Shift_Ins	INS	-	-	C													tgctctggcagccttggcacINScctggccctgctgggtgctg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:220166975_220166976A>AC	uc002vkz.3	-	5	1118_1119	c.877_878T>GT	c.(877-879)gtgfs	p.V293fs	PTPRN_uc010zlc.2_Frame_Shift_Ins_p.V203fs|PTPRN_uc002vla.3_Frame_Shift_Ins_p.V293fs	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	293					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CAGCCTTGGCACCCTGGCCCTG	0.629													C	220166977	-	C	220166976	7	5	27	1	0	1	1	0	0	0	0	0	12807	507	18	0	2134	0	PTPRN	2	220166976	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	1	220166976	23032397	1430	25381	84	2									
SPEG	10290	broad.mit.edu	37	chr2	220349088	220349088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcagccgggggtcccccGgtgctagccgagaaagcccg	14	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:220349088G>A	uc010fwg.2	+	30	6903	c.6903G>A	c.(6901-6903)CCG>CCA	p.P2301P		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2301	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGGGTCCCCCGGTGCTAGCCG	0.687													A	220349088	G	A	220349088	2	1	27	1	0	0	0	0	0	0	0	1	15035	1103	39	1		1	SPEG	2	220349088	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	182112	220349088	22850285	1431	25382											
SPEG	10290	broad.mit.edu	37	chr2	220354263	220354263	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaggctgtgggtccaccAccccaaacccctccacgaag	8	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:220354263A>G	uc010fwg.2	+	36	8523	c.8523A>G	c.(8521-8523)CCA>CCG	p.P2841P		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2841	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGGGTCCACCACCCCAAACCC	0.672													G	220354263	A	G	220354263	2	3	27	1	0	0	0	0	0	0	0	1	15035	146	6	3		3	SPEG	2	220354263	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	5175	220354263	22845110	1432	25383											
SPEG	10290	broad.mit.edu	37	chr2	220357350	220357350	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggactgcctggcccacCcatggttgcaggacgcctac	12	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:220357350C>A	uc010fwg.2	+	41	9646	c.9646C>A	c.(9646-9648)CCA>ACA	p.P3216T		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	3216	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCTGGCCCACCCATGGTTGCA	0.637													A	220357350	C	A	220357350	3	1	27	1	0	0	0	0	1	0	0	0	15035	623	22	5	9820	5	SPEG	2	220357350	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3087	220357350	22842023	1433	25384											
GMPPA	29926	broad.mit.edu	37	chr2	220366625	220366625	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggtggtctttaccattttCgagaccagatcctggctggg	14	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:220366625C>T	uc002vlr.2	+	5	363	c.295C>T	c.(295-297)CGA>TGA	p.R99*	GMPPA_uc002vls.2_Nonsense_Mutation_p.R99*|GMPPA_uc002vlt.2_Nonsense_Mutation_p.R99*|GMPPA_uc002vlu.2_Nonsense_Mutation_p.R99*|GMPPA_uc002vlv.2_Nonsense_Mutation_p.R99*|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Nonsense_Mutation_p.R99*	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	99					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TTACCATTTTCGAGACCAGAT	0.577													T	220366625	C	T	220366625	4	4	27	1	0	0	0	0	0	1	0	0	6494	876	31	1	309	1	GMPPA	2	220366625	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	9275	220366625	22832748	1434	25385											
EPHA4	2043	broad.mit.edu	37	chr2	222310897	222310897	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggctttactgtatttacTccgtctattaaaattttttt	4	6	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:222310897T>C	uc002vmq.2	-	9	1762	c.1720A>G	c.(1720-1722)AGT>GGT	p.S574G	EPHA4_uc002vmr.2_Missense_Mutation_p.S574G|EPHA4_uc010zlm.1_Missense_Mutation_p.S515G|EPHA4_uc010zln.1_Missense_Mutation_p.S574G	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	574	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CTGTATTTACTCCGTCtatta	0.289													C	222310897	T	C	222310897	3	2	27	1	0	0	0	0	1	0	0	0	5169	1551	54	3	1276	3	EPHA4	2	222310897	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1944272	222310897	20888476	1435	25386											
EPHA4	2043	broad.mit.edu	37	chr2	222321482	222321482	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaactatacgatagcttcgcTcattctgatcctacatcatg	6	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:222321482T>C	uc002vmq.2	-	7	1496	c.1454A>G	c.(1453-1455)GAG>GGG	p.E485G	EPHA4_uc002vmr.2_Missense_Mutation_p.E485G|EPHA4_uc010zlm.1_Missense_Mutation_p.E426G|EPHA4_uc010zln.1_Missense_Mutation_p.E485G	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	485	Fibronectin type-III 2.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ATAGCTTCGCTCATTCTGATC	0.458													C	222321482	T	C	222321482	3	2	27	1	0	0	0	0	1	0	0	0	5169	1551	54	3	1550	3	EPHA4	2	222321482	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	10585	222321482	20877891	1436	25387											
EPHA4	2043	broad.mit.edu	37	chr2	222347160	222347160	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcacagcccagatttcaaaGgtgtaattggtatgagctag	10	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:222347160G>T	uc002vmq.2	-	5	1272	c.1230C>A	c.(1228-1230)ACC>ACA	p.T410T	EPHA4_uc002vmr.2_Silent_p.T410T|EPHA4_uc010zlm.1_Silent_p.T351T|EPHA4_uc010zln.1_Silent_p.T410T	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	410	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		AGATTTCAAAGGTGTAATTGG	0.493													T	222347160	G	T	222347160	2	4	27	1	0	0	0	0	0	0	0	1	5169	987	35	5		5	EPHA4	2	222347160	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	25678	222347160	20852213	1437	25388											
EPHA4	2043	broad.mit.edu	37	chr2	222347301	222347301	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacatttcttgcataccacAttataggaaatgtcctggcg	7	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:222347301A>G	uc002vmq.2	-	5	1131	c.1089T>C	c.(1087-1089)AAT>AAC	p.N363N	EPHA4_uc002vmr.2_Silent_p.N363N|EPHA4_uc010zlm.1_Silent_p.N304N|EPHA4_uc010zln.1_Silent_p.N363N	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	363	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGCATACCACATTATAGGAAA	0.517													G	222347301	A	G	222347301	2	3	27	1	0	0	0	0	0	0	0	1	5169	214	8	3		3	EPHA4	2	222347301	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	141	222347301	20852072	1438	25389											
FARSB	10056	broad.mit.edu	37	chr2	223499245	223499245	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatcatgggtaccaatggcAaccagtgctcttttcctaat	7	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:223499245A>G	uc002vne.1	-	6	506	c.471T>C	c.(469-471)GTT>GTC	p.V157V	FARSB_uc010zlq.1_Silent_p.V177V|FARSB_uc002vnf.1_Silent_p.V58V	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	157					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TACCAATGGCAACCAGTGCTC	0.423													G	223499245	A	G	223499245	2	3	27	1	0	0	0	0	0	0	0	1	5680	117	5	3		3	FARSB	2	223499245	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1151944	223499245	19700128	1439	25390											
MOGAT1	116255	broad.mit.edu	37	chr2	223559222	223559222	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactctgttcatccgccagcGgaaaggatttgttaaaattg	9	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:223559222G>T	uc010fws.1	+	4	668	c.620G>T	c.(619-621)CGG>CTG	p.R207L	MOGAT1_uc010fwt.1_Missense_Mutation_p.R167L	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	207					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)	1		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		ATCCGCCAGCGGAAAGGATTT	0.433													T	223559222	G	T	223559222	3	4	27	1	0	0	0	0	1	0	0	0	9694	1116	39	5	634	5	MOGAT1	2	223559222	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	59977	223559222	19640151	1440	25391											
SCG2	7857	broad.mit.edu	37	chr2	224462954	224462954	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttgagatttcaatcagctgAtaaatagactgagaatcaag	8	6	3	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:224462954A>T	uc002vnm.2	-	2	1180	c.1047T>A	c.(1045-1047)TAT>TAA	p.Y349*		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	349					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			ovary(1)	1		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CAATCAGCTGATAAATAGACT	0.453													T	224462954	A	T	224462954	4	4	27	1	0	0	0	0	0	1	0	0	13891	340	12	5	810	5	SCG2	2	224462954	Nonsense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	903732	224462954	18736419	1441	25392											
SERPINE2	5270	broad.mit.edu	37	chr2	224863058	224863058	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctttaatattttaccaacTcctaaaagagaaatcagaag	4	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:224863058T>C	uc002vnu.2	-	3	504	c.261A>G	c.(259-261)GGA>GGG	p.G87G	SERPINE2_uc002vnt.2_Silent_p.G87G|SERPINE2_uc010zlr.1_Silent_p.G99G|SERPINE2_uc002vnv.2_Silent_p.G87G	NM_006216	NP_006207	P07093	GDN_HUMAN	plasminogen activator inhibitor type 1, member 2	87					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|ovary(1)|central_nervous_system(1)	4		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTTTACCAACTCCTAAAAGAG	0.333													C	224863058	T	C	224863058	2	2	27	1	0	0	0	0	0	0	0	1	14112	1565	54	3		3	SERPINE2	2	224863058	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	400104	224863058	18336315	1442	25393											
DOCK10	55619	broad.mit.edu	37	chr2	225630541	225630541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcgctttgacaggtcgTccctgcccgtaatcttaaaa	8	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:225630541T>C	uc010fwz.1	-	56	6697	c.6458A>G	c.(6457-6459)GAC>GGC	p.D2153G	DOCK10_uc002vob.2_Missense_Mutation_p.D2147G|DOCK10_uc002voa.2_Silent_p.G834G	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2153							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGACAGGTCGTCCCTGCCCGT	0.458													C	225630541	T	C	225630541	3	2	27	1	0	0	0	0	1	0	0	0	4685	1667	58	3	106	3	DOCK10	2	225630541	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	767483	225630541	17568832	1443	25394											
DOCK10	55619	broad.mit.edu	37	chr2	225639776	225639776	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttttcctcaaagaacggCgtcacataggtcacctggat	8	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:225639776C>T	uc010fwz.1	-	52	6098	c.5859G>A	c.(5857-5859)ACG>ACA	p.T1953T	DOCK10_uc002vob.2_Silent_p.T1947T|DOCK10_uc002voa.2_Silent_p.T609T	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1953	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CAAAGAACGGCGTCACATAGG	0.493													T	225639776	C	T	225639776	2	4	27	1	0	0	0	0	0	0	0	1	4685	755	27	1		1	DOCK10	2	225639776	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	9235	225639776	17559597	1444	25395											
KIAA1486	57624	broad.mit.edu	37	chr2	226273691	226273691	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatggggatgaaggcctatgAtggcttggttattcagaatg	14	4	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:226273691A>G	uc002voe.2	+	2	270	c.95A>G	c.(94-96)GAT>GGT	p.D32G	KIAA1486_uc010fxa.1_Missense_Mutation_p.D27G	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	32								p.D32N(1)		ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		AAGGCCTATGATGGCTTGGTT	0.408													G	226273691	A	G	226273691	3	3	27	1	0	0	0	0	1	0	0	0	8237	333	12	3	97	3	KIAA1486	2	226273691	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	633915	226273691	16925682	1445	25396											
KIAA1486	57624	broad.mit.edu	37	chr2	226446929	226446929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacgatgaccagagcgagGccgtctacgaggaaatgaag	15	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:226446929G>A	uc002voe.2	+	4	971	c.796G>A	c.(796-798)GCC>ACC	p.A266T	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.A36T	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	266										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		CCAGAGCGAGGCCGTCTACGA	0.562													A	226446929	G	A	226446929	3	1	27	1	0	0	0	0	1	0	0	0	8237	1203	42	2	806	2	KIAA1486	2	226446929	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	173238	226446929	16752444	1446	25397											
KIAA1486	57624	broad.mit.edu	37	chr2	226447576	226447576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgacccccagacccgtgtcGcaagatggggccaagatggt	13	13	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:226447576G>A	uc002voe.2	+	4	1618	c.1443G>A	c.(1441-1443)TCG>TCA	p.S481S	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.S251S	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	481										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		GACCCGTGTCGCAAGATGGGG	0.667													A	226447576	G	A	226447576	2	1	27	1	0	0	0	0	0	0	0	1	8237	1074	38	1		1	KIAA1486	2	226447576	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	647	226447576	16751797	1447	25398											
IRS1	3667	broad.mit.edu	37	chr2	227660190	227660190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacccttgtgggtctgcacGgatcactttggcactctggt	12	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:227660190G>A	uc002voh.3	-	1	3317	c.3265C>T	c.(3265-3267)CGT>TGT	p.R1089C		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	1089					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGTCTGCACGGATCACTTTG	0.647													A	227660190	G	A	227660190	3	1	27	1	0	0	0	0	1	0	0	0	7840	1116	39	1	467	1	IRS1	2	227660190	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1212614	227660190	15539183	1448	25399											
IRS1	3667	broad.mit.edu	37	chr2	227663097	227663097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgcagctccgtcgtggtGgcccttagcacggttgtgca	15	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:227663097G>A	uc002voh.3	-	1	410	c.358C>T	c.(358-360)CAC>TAC	p.H120Y		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	120	Mediates interaction with PHIP (By similarity).				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CCGTCGTGGTGGCCCTTAGCA	0.682											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	227663097	G	A	227663097	3	1	27	1	0	0	0	0	1	0	0	0	7840	1348	47	4	3374	4	IRS1	2	227663097	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2907	227663097	15536276	1449	25400											
RHBDD1	84236	broad.mit.edu	37	chr2	227729830	227729830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcaaaaggagctgtgctGtaggtttctcaggtaaggga	13	6	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:227729830G>A	uc002voi.2	+	2	542	c.421G>A	c.(421-423)GTA>ATA	p.V141I	RHBDD1_uc010fxc.2_Missense_Mutation_p.V141I	NM_032276	NP_115652	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	141						integral to membrane	serine-type endopeptidase activity			ovary(1)	1		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		GAGCTGTGCTGTAGGTTTCTC	0.443													A	227729830	G	A	227729830	3	1	27	1	0	0	0	0	1	0	0	0	13316	1377	48	4	423	4	RHBDD1	2	227729830	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	66733	227729830	15469543	1450	25401											
RHBDD1	84236	broad.mit.edu	37	chr2	227732001	227732001	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaacagatttgcttgttgggTcgaacttgtggctattcatt	11	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:227732001T>A	uc002voi.2	+	3	654	c.533T>A	c.(532-534)GTC>GAC	p.V178D	RHBDD1_uc010fxc.2_Missense_Mutation_p.V178D	NM_032276	NP_115652	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	178						integral to membrane	serine-type endopeptidase activity			ovary(1)	1		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		GCTTGTTGGGTCGAACTTGTG	0.398													A	227732001	T	A	227732001	3	1	27	1	0	0	0	0	1	0	0	0	13316	1667	58	5	539	5	RHBDD1	2	227732001	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2171	227732001	15467372	1451	25402											
COL4A4	1286	broad.mit.edu	37	chr2	227919385	227919385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggttctccctttgcgccagGacatccctctgcaccaggct	9	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:227919385G>A	uc010zlt.1	-	31	3439	c.2785C>T	c.(2785-2787)CCT>TCT	p.P929S		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	929	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTTGCGCCAGGACATCCCTCT	0.542													A	227919385	G	A	227919385	3	1	27	1	0	0	0	0	1	0	0	0	3693	1174	41	4	2359	4	COL4A4	2	227919385	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	187384	227919385	15279988	1452	25403											
MFF	56947	broad.mit.edu	37	chr2	228220472	228220472	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagatgcagcttcactaagaCgacaggtatttagtgtacca	9	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:228220472C>T	uc002vos.2	+	10	1310	c.892C>T	c.(892-894)CGA>TGA	p.R298*	MFF_uc002vot.2_Nonsense_Mutation_p.R247*|MFF_uc002vou.2_Nonsense_Mutation_p.R220*|MFF_uc002vov.2_Nonsense_Mutation_p.R194*|MFF_uc002vow.2_Nonsense_Mutation_p.R199*|MFF_uc002vox.2_Nonsense_Mutation_p.R174*|MFF_uc002voy.2_Nonsense_Mutation_p.R298*|MFF_uc002voz.2_Nonsense_Mutation_p.R174*|MFF_uc002vpa.2_Nonsense_Mutation_p.R86*	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	298	Potential.|Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane				large_intestine(1)	1						TTCACTAAGACGACAGGTATT	0.323													T	228220472	C	T	228220472	4	4	27	1	0	0	0	0	0	1	0	0	9519	528	19	1	922	1	MFF	2	228220472	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	301087	228220472	14978901	1453	25404											
CCL20	6364	broad.mit.edu	37	chr2	228680264	228680264	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcagctggccaatgaaggCtgtgacatcaatgctatcat	11	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:228680264C>A	uc002vpl.2	+	2	241	c.171C>A	c.(169-171)GGC>GGA	p.G57G	CCL20_uc002vpm.2_Silent_p.G56G	NM_004591	NP_004582	P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20 isoform 1	57					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity				0		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CCAATGAAGGCTGTGACATCA	0.363													A	228680264	C	A	228680264	2	1	27	1	0	0	0	0	0	0	0	1	2892	784	28	5		5	CCL20	2	228680264	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	459792	228680264	14519109	1454	25405											
SPHKAP	80309	broad.mit.edu	37	chr2	228884736	228884736	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttctgttttaatcaatggTgtgggatatttgttgatgta	11	3	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:228884736T>C	uc002vpq.2	-	7	881	c.834A>G	c.(832-834)ACA>ACG	p.T278T	SPHKAP_uc002vpp.2_Silent_p.T278T|SPHKAP_uc010zlx.1_Silent_p.T278T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	278						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TAATCAATGGTGTGGGATATT	0.423													C	228884736	T	C	228884736	2	2	27	1	0	0	0	0	0	0	0	1	15047	1683	59	3		3	SPHKAP	2	228884736	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	204472	228884736	14314637	1455	25406											
SLC16A14	151473	broad.mit.edu	37	chr2	230910760	230910760	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttccaaagatgtgaactAttgctataattgacgtcaga	7	7	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:230910760A>G	uc002vqd.1	-	4	1445	c.1082T>C	c.(1081-1083)ATA>ACA	p.I361T	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.I361T|SLC16A14_uc002vqf.2_Missense_Mutation_p.I361T	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	361	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GATGTGAACTATTGCTATAAT	0.448													G	230910760	A	G	230910760	3	3	27	1	0	0	0	0	1	0	0	0	14407	449	16	3	458	3	SLC16A14	2	230910760	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2026024	230910760	12288613	1456	25407											
SLC16A14	151473	broad.mit.edu	37	chr2	230923905	230923905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccattccacgttgaggacaCccagggccatctgggagccc	12	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:230923905C>T	uc002vqd.1	-	2	527	c.164G>A	c.(163-165)GGT>GAT	p.G55D	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.G55D|SLC16A14_uc002vqf.2_Missense_Mutation_p.G55D	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	55	Cytoplasmic (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GTTGAGGACACCCAGGGCCAT	0.577													T	230923905	C	T	230923905	3	4	27	1	0	0	0	0	1	0	0	0	14407	507	18	4	1384	4	SLC16A14	2	230923905	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	13145	230923905	12275468	1457	25408											
SP110	3431	broad.mit.edu	37	chr2	231042316	231042316	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtttccagttctttgcgtTccttccttttccttcgactt	5	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:231042316T>C	uc002vqh.3	-	14	1768	c.1528A>G	c.(1528-1530)AAC>GAC	p.N510D	SP110_uc002vqg.3_Missense_Mutation_p.N510D|SP110_uc002vqi.3_Missense_Mutation_p.N510D|SP110_uc010fxk.2_Missense_Mutation_p.N508D|SP110_uc010fxj.2_Missense_Mutation_p.N153D	NM_004509	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform a	510	SAND.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TTCTTTGCGTTCCTTCCTTTT	0.423													C	231042316	T	C	231042316	3	2	27	1	0	0	0	0	1	0	0	0	14961	1783	62	3	701	3	SP110	2	231042316	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	118411	231042316	12157057	1458	25409											
SP140	11262	broad.mit.edu	37	chr2	231134660	231134660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagtgatcaagcgtgtgGcacaatgggtaaggctgtct	15	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:231134660G>A	uc002vql.2	+	14	1551	c.1436G>A	c.(1435-1437)GGC>GAC	p.G479D	SP140_uc010zma.1_RNA|SP140_uc002vqn.2_Missense_Mutation_p.G365D|SP140_uc002vqm.2_Missense_Mutation_p.G419D|SP140_uc010fxl.2_Missense_Mutation_p.G452D	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	479					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CAAGCGTGTGGCACAATGGGT	0.557													A	231134660	G	A	231134660	3	1	27	1	0	0	0	0	1	0	0	0	14962	1203	42	2	1607	2	SP140	2	231134660	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	92344	231134660	12064713	1459	25410											
SP140L	93349	broad.mit.edu	37	chr2	231193506	231193506	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgtttcacaagtagcaaatGagatgaaccatcttcctgca	8	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:231193506G>A	uc010fxm.1	+	2	158	c.67G>A	c.(67-69)GAG>AAG	p.E23K	SP140_uc010zma.1_Intron	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	23						nucleus	DNA binding|metal ion binding			central_nervous_system(1)	1						agtagcaaatgagatgaacca	0													A	231193506	G	A	231193506	3	1	27	1	0	0	0	0	1	0	0	0	14963	1291	45	4	73	4	SP140L	2	231193506	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	58846	231193506	12005867	1460	25411											
SP140L	93349	broad.mit.edu	37	chr2	231253321	231253321	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actttactcagagtgacagaGctccacagaaaagagtccga	9	10	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:231253321G>T	uc010fxm.1	+	10	923	c.832G>T	c.(832-834)GCT>TCT	p.A278S	SP140L_uc010fxo.1_Missense_Mutation_p.A85S	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	278						nucleus	DNA binding|metal ion binding			central_nervous_system(1)	1						GAGTGACAGAGCTCCACAGAA	0.378													T	231253321	G	T	231253321	3	4	27	1	0	0	0	0	1	0	0	0	14963	971	34	5	870	5	SP140L	2	231253321	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	59815	231253321	11946052	1461	25412											
PSMD1	5707	broad.mit.edu	37	chr2	231948386	231948386	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaactcaacatgagaagaTtctgcgtggtcttgcagttg	11	7	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:231948386T>C	uc002vrn.1	+	14	1762	c.1631T>C	c.(1630-1632)ATT>ACT	p.I544T	PSMD1_uc002vrm.1_Missense_Mutation_p.I544T|PSMD1_uc010fxu.1_Missense_Mutation_p.I408T	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	proteasome 26S non-ATPase subunit 1	544	PC 4.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			ovary(1)|skin(1)	2		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CATGAGAAGATTCTGCGTGGT	0.468													C	231948386	T	C	231948386	3	2	27	1	0	0	0	0	1	0	0	0	12692	1493	52	3	1685	3	PSMD1	2	231948386	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	695065	231948386	11250987	1462	25413											
HTR2B	3357	broad.mit.edu	37	chr2	231988258	231988258	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaacagccagaataacaAgggtatttccaccaattgtg	9	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:231988258A>G	uc002vro.2	-	2	726	c.221T>C	c.(220-222)CTT>CCT	p.L74P	PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Missense_Mutation_p.L74P	NM_000867	NP_000858	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B	74	Helical; Name=1; (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	CAGAATAACAAGGGTATTTCC	0.428													G	231988258	A	G	231988258	3	3	27	1	0	0	0	0	1	0	0	0	7442	72	3	3	1236	3	HTR2B	2	231988258	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	39872	231988258	11211115	1463	25414											
NCL	4691	broad.mit.edu	37	chr2	232325554	232325554	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttcctttggctggtgtagTctccatagcttcttcttcag	8	11	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:232325554T>A	uc002vru.2	-	4	778	c.637A>T	c.(637-639)ACT>TCT	p.T213S	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	nucleolin	213					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			ovary(2)|pancreas(1)	3		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		GCTGGTGTAGTCTCCATAGCT	0.323													A	232325554	T	A	232325554	3	1	27	1	0	0	0	0	1	0	0	0	10226	1667	58	5	1539	5	NCL	2	232325554	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	337296	232325554	10873819	1464	25415											
C2orf57	165100	broad.mit.edu	37	chr2	232458471	232458471	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacacggccagtgaggagaAcagctacatgcgctccatga	12	11	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:232458471A>G	uc002vrz.2	+	1	860	c.809A>G	c.(808-810)AAC>AGC	p.N270S		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	hypothetical protein LOC165100	270										ovary(1)	1		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		AGTGAGGAGAACAGCTACATG	0.667													G	232458471	A	G	232458471	3	3	27	1	0	0	0	0	1	0	0	0	2178	43	2	3	811	3	C2orf57	2	232458471	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	132917	232458471	10740902	1465	25416											
DIS3L2	129563	broad.mit.edu	37	chr2	233194691	233194691	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccgtggacttcagctcCgcaggagccctcaatgtgag	12	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:233194691C>T	uc010fxz.2	+	15	2184	c.1908C>T	c.(1906-1908)TCC>TCT	p.S636S	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	636							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		ACTTCAGCTCCGCAGGAGCCC	0.647													T	233194691	C	T	233194691	2	4	27	1	0	0	0	0	0	0	0	1	4537	639	23	1		1	DIS3L2	2	233194691	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	736220	233194691	10004682	1466	25417											
ALPI	248	broad.mit.edu	37	chr2	233322832	233322832	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacccccgcggcttctacctCtttgtggagggtgcgtggtg	14	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:233322832C>A	uc002vst.3	+	8	1058	c.981C>A	c.(979-981)CTC>CTA	p.L327L	ALPI_uc002vsu.3_Silent_p.L238L	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	327					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCTTCTACCTCTTTGTGGAGG	0.667													A	233322832	C	A	233322832	2	1	27	1	0	0	0	0	0	0	0	1	543	900	32	5		5	ALPI	2	233322832	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	128141	233322832	9876541	1467	25418											
CHRNG	1146	broad.mit.edu	37	chr2	233404465	233404465	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagctgaggcaccatgcatgGgggccaggggccgctgctcc	17	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:233404465G>T	uc002vsx.1	+	1	29	c.8G>T	c.(7-9)GGG>GTG	p.G3V	CHRNG_uc010fyd.2_Missense_Mutation_p.G3V|CHRNG_uc010fye.1_Missense_Mutation_p.G3V	NM_005199	NP_005190	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma	3					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		ACCATGCATGGGGGCCAGGGG	0.627													T	233404465	G	T	233404465	3	4	27	1	0	0	0	0	1	0	0	0	3396	1232	43	5	10	5	CHRNG	2	233404465	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	81633	233404465	9794908	1468	25419											
GIGYF2	26058	broad.mit.edu	37	chr2	233620987	233620987	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcgattgacaggacgaGgaggaggaggaacagtggtg	18	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:233620987G>T	uc002vti.3	+	8	659	c.322G>T	c.(322-324)GGA>TGA	p.G108*	GIGYF2_uc010zmj.1_Nonsense_Mutation_p.G108*|GIGYF2_uc002vtg.2_Nonsense_Mutation_p.G108*|GIGYF2_uc002vtj.3_Nonsense_Mutation_p.G108*|GIGYF2_uc002vtk.3_Nonsense_Mutation_p.G108*|GIGYF2_uc002vth.3_Nonsense_Mutation_p.G108*|GIGYF2_uc010zmk.1_RNA	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	108	Poly-Gly.				cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GACAGGACGAGGAGGAGGAGG	0.398													T	233620987	G	T	233620987	4	4	27	1	0	0	0	0	0	1	0	0	6378	1001	35	5	336	5	GIGYF2	2	233620987	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	216522	233620987	9578386	1469	25420											
NGEF	25791	broad.mit.edu	37	chr2	233744335	233744335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaagatctcctcagtcatgGagctggggaaccagcctctc	10	13	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:233744335G>A	uc002vts.2	-	15	2245	c.1997C>T	c.(1996-1998)TCC>TTC	p.S666F	NGEF_uc010zmm.1_Missense_Mutation_p.S389F|NGEF_uc010fyg.1_Missense_Mutation_p.S574F	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	666	SH3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)|skin(1)	7		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CTCAGTCATGGAGCTGGGGAA	0.582													A	233744335	G	A	233744335	3	1	27	1	0	0	0	0	1	0	0	0	10394	1174	41	4	139	4	NGEF	2	233744335	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	123348	233744335	9455038	1470	25421											
NGEF	25791	broad.mit.edu	37	chr2	233785033	233785033	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgggctgtaggatctcaagCaccccgctgctccggatctc	11	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:233785033C>T	uc002vts.2	-	5	1037	c.789G>A	c.(787-789)GTG>GTA	p.V263V	NGEF_uc010fyg.1_Silent_p.V171V|NGEF_uc002vtt.2_Silent_p.V171V	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	263	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)|skin(1)	7		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GGATCTCAAGCACCCCGCTGC	0.637													T	233785033	C	T	233785033	2	4	27	1	0	0	0	0	0	0	0	1	10394	697	25	2		2	NGEF	2	233785033	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	40698	233785033	9414340	1471	25422											
INPP5D	3635	broad.mit.edu	37	chr2	234072495	234072495	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgagtgagaaggagtgGctggagatcctcaaacactc	12	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:234072495G>A	uc010zmo.1	+	11	1536	c.1383G>A	c.(1381-1383)TGG>TGA	p.W461*	INPP5D_uc010zmp.1_Nonsense_Mutation_p.W460*	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	461					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGAAGGAGTGGCTGGAGATCC	0.557													A	234072495	G	A	234072495	4	1	27	1	0	0	0	0	0	1	0	0	7756	1212	42	2	937	2	INPP5D	2	234072495	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	287462	234072495	9126878	1472	25423											
DGKD	8527	broad.mit.edu	37	chr2	234359623	234359623	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagtctgtccctaggcagTtctgcttcccttccgcccca	10	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:234359623T>C	uc002vui.1	+	17	2106	c.2094T>C	c.(2092-2094)AGT>AGC	p.S698S	DGKD_uc002vuj.1_Silent_p.S654S|DGKD_uc010fyh.1_Silent_p.S565S|DGKD_uc010fyi.1_RNA	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	698					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CCCTAGGCAGTTCTGCTTCCC	0.567													C	234359623	T	C	234359623	2	2	27	1	0	0	0	0	0	0	0	1	4467	1722	60	3		3	DGKD	2	234359623	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	287128	234359623	8839750	1473	25424											
DGKD	8527	broad.mit.edu	37	chr2	234368890	234368890	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaagcagaagtgcgagctGccccgccctccatcctgttc	10	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:234368890G>A	uc002vui.1	+	24	2892	c.2880G>A	c.(2878-2880)CTG>CTA	p.L960L	DGKD_uc002vuj.1_Silent_p.L916L|DGKD_uc010fyi.1_RNA	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	960				L -> V (in Ref. 1; BAC11809 and 4; BAA11134).	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGTGCGAGCTGCCCCGCCCTC	0.592													A	234368890	G	A	234368890	2	1	27	1	0	0	0	0	0	0	0	1	4467	1306	46	2		2	DGKD	2	234368890	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	9267	234368890	8830483	1474	25425											
UGT1A5	54579	broad.mit.edu	37	chr2	234621927	234621927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccttttgctgggtcacaCtcaatcgttctttgaaacag	8	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:234621927C>T	uc002vuw.2	+	1	290	c.290C>T	c.(289-291)ACT>ATT	p.T97I	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Missense_Mutation_p.T97I	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	97					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		CTGGGTCACACTCAATCGTTC	0.388													T	234621927	C	T	234621927	3	4	27	1	0	0	0	0	1	0	0	0	16945	565	20	4	292	4	UGT1A5	2	234621927	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	253037	234621927	8577446	1475	25426											
AGAP1	116987	broad.mit.edu	37	chr2	236945228	236945228	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaaaattttgagtttAtcattgtgtccctcactggc	8	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:236945228A>G	uc002vvs.2	+	14	2264	c.1669A>G	c.(1669-1671)ATC>GTC	p.I557V	AGAP1_uc002vvt.2_Missense_Mutation_p.I504V	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	557	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						TTTTGAGTTTATCATTGTGTC	0.517													G	236945228	A	G	236945228	3	3	27	1	0	0	0	0	1	0	0	0	366	449	16	3	1723	3	AGAP1	2	236945228	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2323301	236945228	6254145	1476	25427											
IQCA1	79781	broad.mit.edu	37	chr2	237374169	237374169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcattcgatgaaccaatgcCggatctggtcttgaaggttc	11	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:237374169C>T	uc002vvz.1	-	6	1087	c.905G>A	c.(904-906)CGG>CAG	p.R302Q	IQCA1_uc002vwb.2_Missense_Mutation_p.R309Q|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.R302Q	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	302							ATP binding			ovary(1)	1						GAACCAATGCCGGATCTGGTC	0.443													T	237374169	C	T	237374169	3	4	27	1	0	0	0	0	1	0	0	0	7802	652	23	1	1619	1	IQCA1	2	237374169	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	428941	237374169	5825204	1477	25428											
COL6A3	1293	broad.mit.edu	37	chr2	238249610	238249610	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccttgggatctgggctcatgTccagttgtctgaccaggtac	12	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:238249610T>A	uc002vwl.2	-	38	8234	c.7949A>T	c.(7948-7950)GAC>GTC	p.D2650V	COL6A3_uc002vwo.2_Missense_Mutation_p.D2444V|COL6A3_uc010znj.1_Missense_Mutation_p.D2043V|COL6A3_uc002vwj.2_Missense_Mutation_p.D31V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2650	VWFA 12.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGGGCTCATGTCCAGTTGTCT	0.557													A	238249610	T	A	238249610	3	1	27	1	0	0	0	0	1	0	0	0	3701	1667	58	5	1612	5	COL6A3	2	238249610	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	875441	238249610	4949763	1478	25429											
COL6A3	1293	broad.mit.edu	37	chr2	238253585	238253585	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaccaaaatcaacttaccGtaacagcaagctagaaaaga	6	10	2	2	rs114248590	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:238253585G>A	uc002vwl.2	-	35	7458	c.7173C>T	c.(7171-7173)TAC>TAT	p.Y2391Y	COL6A3_uc002vwo.2_Silent_p.Y2185Y|COL6A3_uc010znj.1_Silent_p.Y1784Y|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Silent_p.Y212Y	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2391	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCAACTTACCGTAACAGCAAG	0.408													A	238253585	G	A	238253585	2	1	27	1	0	0	0	0	0	0	0	1	3701	1159	40	1		1	COL6A3	2	238253585	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3975	238253585	4945788	1479	25430											
COL6A3	1293	broad.mit.edu	37	chr2	238285615	238285615	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggttacttgctggcccaTccacacggtcagatgacctt	9	13	2	2	rs116294003	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:238285615T>C	uc002vwl.2	-	7	3155	c.2870A>G	c.(2869-2871)GAT>GGT	p.D957G	COL6A3_uc002vwo.2_Missense_Mutation_p.D751G|COL6A3_uc010znj.1_Missense_Mutation_p.D350G|COL6A3_uc002vwq.2_Missense_Mutation_p.D751G|COL6A3_uc002vwr.2_Missense_Mutation_p.D550G|COL6A3_uc010znk.1_Missense_Mutation_p.D757G	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	957	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGCTGGCCCATCCACACGGTC	0.547													C	238285615	T	C	238285615	3	2	27	1	0	0	0	0	1	0	0	0	3701	1435	50	3	6862	3	COL6A3	2	238285615	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	32030	238285615	4913758	1480	25431											
COL6A3	1293	broad.mit.edu	37	chr2	238296650	238296650	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttggtggagtaggtgtccAaggagaacatggttctgggc	16	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:238296650A>G	uc002vwl.2	-	4	1172	c.887T>C	c.(886-888)TTG>TCG	p.L296S	COL6A3_uc002vwo.2_Missense_Mutation_p.L90S|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Missense_Mutation_p.L90S|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.L296S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	296	VWFA 2.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTAGGTGTCCAAGGAGAACAT	0.547													G	238296650	A	G	238296650	3	3	27	1	0	0	0	0	1	0	0	0	3701	131	5	3	8857	3	COL6A3	2	238296650	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	11035	238296650	4902723	1481	25432											
COL6A3	1293	broad.mit.edu	37	chr2	238296676	238296676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatggttctgggctcatcGctaaactggaccacccccac	8	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:238296676G>A	uc002vwl.2	-	4	1146	c.861C>T	c.(859-861)AGC>AGT	p.S287S	COL6A3_uc002vwo.2_Silent_p.S81S|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Silent_p.S81S|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Silent_p.S287S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	287	VWFA 2.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGGGCTCATCGCTAAACTGGA	0.532													A	238296676	G	A	238296676	2	1	27	1	0	0	0	0	0	0	0	1	3701	1078	38	1		1	COL6A3	2	238296676	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	26	238296676	4902697	1482	25433											
COL6A3	1293	broad.mit.edu	37	chr2	238303419	238303419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatcctcaactccaattgCaaacacgttaacatcagcag	5	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:238303419C>T	uc002vwl.2	-	3	805	c.520G>A	c.(520-522)GCA>ACA	p.A174T	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.A174T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	174	VWFA 1.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACTCCAATTGCAAACACGTTA	0.448													T	238303419	C	T	238303419	3	4	27	1	0	0	0	0	1	0	0	0	3701	710	25	2	9228	2	COL6A3	2	238303419	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6743	238303419	4895954	1483	25434											
LRRFIP1	9208	broad.mit.edu	37	chr2	238688132	238688132	+	Frame_Shift_Del	DEL	A	A	-													ccacttagtgaagcgtctggAaaaaatgaaagcaaatcgga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:238688131_238688131GA>G	uc002vxc.3	+	23	1943	c.1879_1879GA>G	c.(1879-1881)gaafs	p.E627fs	LRRFIP1_uc010znm.2_Frame_Shift_Del_p.E381fs|LRRFIP1_uc002vxg.3_Non-coding_Transcript	NM_001137550	NP_001131022	Q32MZ4	LRRF1_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 1 (LRRFIP1), transcript variant 1, mRNA.	158					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GAAGCGTCTGGAAAAAATGAA	0.493													-	238688132	A	-	238688132	7	5	27	1	0	1	0	1	0	0	0	0	9027	246	9	0	3586	0	LRRFIP1	2	238688132	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	384713	238688132	4511241	1484	25435											
RBM44	375316	broad.mit.edu	37	chr2	238725827	238725827	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgagtcaagatactaacAcagagagtactcagtttcag	9	8	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:238725827A>C	uc002vxi.3	+	3	400	c.268A>C	c.(268-270)ACA>CCA	p.T90P		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	89							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGATACTAACACAGAGAGTAC	0.318													C	238725827	A	C	238725827	3	2	27	1	0	0	0	0	1	0	0	0	13138	159	6	5	274	5	RBM44	2	238725827	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	37695	238725827	4473546	1485	25436											
SCLY	51540	broad.mit.edu	37	chr2	238999895	238999895	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgattgctggccttgggaaGgtgagccctggtgagcttga	16	7	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:238999895G>T	uc010fyv.2	+	8	985	c.921G>T	c.(919-921)AAG>AAT	p.K307N	SCLY_uc002vxm.3_Missense_Mutation_p.K274N|SCLY_uc002vxn.2_Missense_Mutation_p.K307N|SCLY_uc010znq.1_Intron|SCLY_uc010znr.1_Missense_Mutation_p.K213N	NM_016510	NP_057594	Q96I15	SCLY_HUMAN	selenocysteine lyase	307					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			ovary(2)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		GCCTTGGGAAGGTGAGCCCTG	0.478													T	238999895	G	T	238999895	3	4	27	1	0	0	0	0	1	0	0	0	13907	1014	35	5	951	5	SCLY	2	238999895	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	274068	238999895	4199478	1486	25437											
ESPNL	339768	broad.mit.edu	37	chr2	239040248	239040248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcggccctgagcccacaGcacagcggctggggtcccgc	15	17	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:239040248G>A	uc002vxq.3	+	9	3003	c.2893G>A	c.(2893-2895)GCA>ACA	p.A965T	ESPNL_uc010fyw.2_Missense_Mutation_p.A661T	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	965										pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGAGCCCACAGCACAGCGGCT	0.682													A	239040248	G	A	239040248	3	1	27	1	0	0	0	0	1	0	0	0	5255	971	34	2	2927	2	ESPNL	2	239040248	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	40353	239040248	4159125	1487	25438											
OR6B3	150681	broad.mit.edu	37	chr2	240985382	240985382	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggttctccaccaggacaaaGaggtaggtgagcaggaagag	15	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:240985382G>A	uc010zoe.1	-	1	108	c.108C>T	c.(106-108)CTC>CTT	p.L36L	PRR21_uc010zod.1_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B,	36	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CCAGGACAAAGAGGTAGGTGA	0.592													A	240985382	G	A	240985382	2	1	27	1	0	0	0	0	0	0	0	1	11189	929	33	4		4	OR6B3	2	240985382	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1945134	240985382	2213991	1488	25439											
RNPEPL1	57140	broad.mit.edu	37	chr2	241513717	241513717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggaagagatgtggctgagcGagggcctggccacctatgcc	17	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:241513717G>A	uc002vzi.2	+	5	1026	c.433G>A	c.(433-435)GAG>AAG	p.E145K	RNPEPL1_uc010fzf.2_5'UTR|RNPEPL1_uc002vzj.2_5'Flank	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like	145		Zinc; catalytic (By similarity).			leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		GTGGCTGAGCGAGGGCCTGGC	0.667													A	241513717	G	A	241513717	3	1	27	1	0	0	0	0	1	0	0	0	13510	1059	37	1	443	1	RNPEPL1	2	241513717	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	528335	241513717	1685656	1489	25440											
KIF1A	547	broad.mit.edu	37	chr2	241689868	241689868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatggcctggacggccacGcggaggaagcccttcacctc	14	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:241689868G>A	uc002vzy.2	-	26	2798	c.2652C>T	c.(2650-2652)CGC>CGT	p.R884R	KIF1A_uc010fzk.2_Silent_p.R985R|KIF1A_uc002vzz.1_Silent_p.R985R	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	884					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)		GGACGGCCACGCGGAGGAAGC	0.657													A	241689868	G	A	241689868	2	1	27	1	0	0	0	0	0	0	0	1	8283	1074	38	1		1	KIF1A	2	241689868	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	176151	241689868	1509505	1490	25441											
SNED1	25992	broad.mit.edu	37	chr2	241992711	241992711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catccgggtctgccagccacAcggtgtctggagtgagcctc	13	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:241992711A>G	uc002wah.1	+	16	2225	c.2225A>G	c.(2224-2226)CAC>CGC	p.H742R		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	742	Sushi.				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGCCAGCCACACGGTGTCTGG	0.687													G	241992711	A	G	241992711	3	3	27	1	0	0	0	0	1	0	0	0	14845	159	6	3	2287	3	SNED1	2	241992711	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	302843	241992711	1206662	1491	25442											
SNED1	25992	broad.mit.edu	37	chr2	242009574	242009574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgcagagcacggagctcGggccgcagcacagcgagccc	15	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:242009574G>A	uc002wah.1	+	24	3547	c.3547G>A	c.(3547-3549)GGG>AGG	p.G1183R	SNED1_uc002wai.1_Missense_Mutation_p.G418R|SNED1_uc002waj.1_Missense_Mutation_p.G270R|SNED1_uc002wak.2_Missense_Mutation_p.G270R|SNED1_uc002wal.2_5'Flank	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	1183	Fibronectin type-III 3.				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CACGGAGCTCGGGCCGCAGCA	0.682													A	242009574	G	A	242009574	3	1	27	1	0	0	0	0	1	0	0	0	14845	1116	39	1	3641	1	SNED1	2	242009574	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	16863	242009574	1189799	1492	25443											
SNED1	25992	broad.mit.edu	37	chr2	242021174	242021174	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcccacagctgtgactgCgggccagggttcaaaggcag	15	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:242021174C>T	uc002wah.1	+	28	3999	c.3999C>T	c.(3997-3999)TGC>TGT	p.C1333C	SNED1_uc002wai.1_Silent_p.C535C|SNED1_uc002waj.1_Silent_p.C387C	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	1333	EGF-like 15.				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GCTGTGACTGCGGGCCAGGGT	0.632													T	242021174	C	T	242021174	2	4	27	1	0	0	0	0	0	0	0	1	14845	776	27	1		1	SNED1	2	242021174	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	11600	242021174	1178199	1493	25444											
PPP1R7	5510	broad.mit.edu	37	chr2	242122098	242122098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgagagctggagcgacctcGacgagctgaagggagccagg	17	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:242122098G>A	uc002wat.1	+	10	958	c.943G>A	c.(943-945)GAC>AAC	p.D315N	PPP1R7_uc002wau.1_Missense_Mutation_p.D272N|PPP1R7_uc002wav.1_Missense_Mutation_p.D241N	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	315	LRR 11.					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			ovary(3)	3		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		GAGCGACCTCGACGAGCTGAA	0.607													A	242122098	G	A	242122098	3	1	27	1	0	0	0	0	1	0	0	0	12376	1058	37	1	981	1	PPP1R7	2	242122098	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	100924	242122098	1077275	1494	25445											
BOK	666	broad.mit.edu	37	chr2	242501857	242501857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctgtggtgaccgatgcGttcctggccgtggctggcca	16	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:242501857G>A	uc002wbq.2	+	3	561	c.315G>A	c.(313-315)GCG>GCA	p.A105A		NM_032515	NP_115904	Q9UMX3	BOK_HUMAN	BCL2-related ovarian killer	105					activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis	mitochondrial membrane|nucleus				ovary(1)	1		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)		TGACCGATGCGTTCCTGGCCG	0.642													A	242501857	G	A	242501857	2	1	27	1	0	0	0	0	0	0	0	1	1484	1132	40	1		1	BOK	2	242501857	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	379759	242501857	697516	1495	25446											
D2HGDH	728294	broad.mit.edu	37	chr2	242690780	242690780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgaccgatgggaccatgGccaccgaccagaggaaagtc	14	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:242690780G>A	uc002wce.1	+	8	1290	c.1117G>A	c.(1117-1119)GCC>ACC	p.A373T	D2HGDH_uc010zpc.1_RNA|D2HGDH_uc010fzq.1_Missense_Mutation_p.A239T|D2HGDH_uc002wcg.1_Intron|D2HGDH_uc002wch.2_Intron|D2HGDH_uc002wci.2_Missense_Mutation_p.A72T	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase precursor	373					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TGGGACCATGGCCACCGACCA	0.637													A	242690780	G	A	242690780	3	1	27	1	0	0	0	0	1	0	0	0	4213	1203	42	2	1143	2	D2HGDH	2	242690780	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	188923	242690780	508593	1496	25447											
NEU4	129807	broad.mit.edu	37	chr2	242757513	242757513	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggaccagccctcactccttCgccttctacagcgatgacca	7	18	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr2:242757513C>T	uc010fzr.2	+	4	680	c.594C>T	c.(592-594)TTC>TTT	p.F198F	NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Silent_p.F198F|NEU4_uc002wcn.1_Silent_p.F210F|NEU4_uc002wco.1_Silent_p.F198F|NEU4_uc002wcp.1_Silent_p.F210F	NM_080741	NP_542779	Q8WWR8	NEUR4_HUMAN	sialidase 4	198						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CTCACTCCTTCGCCTTCTACA	0.687													T	242757513	C	T	242757513	2	4	27	1	0	0	0	0	0	0	0	1	10344	883	31	1		1	NEU4	2	242757513	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	66733	242757513	441860	1497	25448											
CNTN6	27255	broad.mit.edu	37	chr3	1262436	1262436	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgtcatttttcctttggatTtatcaaaatctgaggtcatc	6	7	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:1262436T>A	uc003boz.2	+	3	388	c.121T>A	c.(121-123)TTA>ATA	p.L41I	CNTN6_uc010hbo.2_Missense_Mutation_p.L36I|CNTN6_uc011asj.1_5'UTR|CNTN6_uc003bpa.2_Missense_Mutation_p.L41I	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	41	Ig-like C2-type 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TCCTTTGGATTTATCAAAATC	0.378													A	1262436	T	A	1262436	3	1	27	1	0	0	0	0	1	0	0	0	3645	1838	64	5	127	5	CNTN6	3	1262436	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08		1262436	196759994	1498	25449											
CNTN6	27255	broad.mit.edu	37	chr3	1369239	1369239	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaaacaaatatcagatAatttatgcaaatgctgaatt	6	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:1369239A>T	uc003boz.2	+	10	1449	c.1182A>T	c.(1180-1182)ATA>ATT	p.I394I	CNTN6_uc011asj.1_Silent_p.I322I|CNTN6_uc003bpa.2_Silent_p.I394I	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	394	Ig-like C2-type 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AATATCAGATAATTTATGCAA	0.333													T	1369239	A	T	1369239	2	4	27	1	0	0	0	0	0	0	0	1	3645	352	13	5		5	CNTN6	3	1369239	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	106803	1369239	196653191	1499	25450											
CNTN6	27255	broad.mit.edu	37	chr3	1427478	1427478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgttaccaccaaaaagTctcgtaagtatgcatacact	5	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:1427478T>C	uc003boz.2	+	20	2968	c.2701T>C	c.(2701-2703)TCT>CCT	p.S901P	CNTN6_uc011asj.1_Missense_Mutation_p.S829P|CNTN6_uc003bpa.2_Missense_Mutation_p.S901P	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	901					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CACCAAAAAGTCTCGTAAGTA	0.448													C	1427478	T	C	1427478	3	2	27	1	0	0	0	0	1	0	0	0	3645	1667	58	3	2775	3	CNTN6	3	1427478	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	58239	1427478	196594952	1500	25451											
CNTN6	27255	broad.mit.edu	37	chr3	1444125	1444125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagaacagtcagtgatggtGgagatggaagcagcagtgag	16	4	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:1444125G>A	uc003boz.2	+	22	3208	c.2941G>A	c.(2941-2943)GGA>AGA	p.G981R	CNTN6_uc011asj.1_Missense_Mutation_p.G909R|CNTN6_uc003bpa.2_Missense_Mutation_p.G981R	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	981	Fibronectin type-III 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CAGTGATGGTGGAGATGGAAG	0.388													A	1444125	G	A	1444125	3	1	27	1	0	0	0	0	1	0	0	0	3645	1349	47	4	3023	4	CNTN6	3	1444125	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	16647	1444125	196578305	1501	25452											
CNTN4	152330	broad.mit.edu	37	chr3	3081933	3081933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctttcagtcccaccacGgtggtgtattctgcagaaga	11	12	2	2	rs150012927		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:3081933G>A	uc003bpc.2	+	19	2597	c.2376G>A	c.(2374-2376)ACG>ACA	p.T792T	CNTN4_uc003bpb.1_Silent_p.T463T|CNTN4_uc003bpe.2_Silent_p.T464T|CNTN4_uc003bpf.2_Silent_p.T463T|CNTN4_uc003bpg.2_Silent_p.T48T	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	792	Fibronectin type-III 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTCCCACCACGGTGGTGTATT	0.433													A	3081933	G	A	3081933	2	1	27	1	0	0	0	0	0	0	0	1	3643	1103	39	1		1	CNTN4	3	3081933	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1637808	3081933	194940497	1502	25453											
IL5RA	3568	broad.mit.edu	37	chr3	3118291	3118291	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgacaaaccactctctcaAgggcttgtgttcatcatttc	6	11	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:3118291A>G	uc011ask.1	-	11	1659	c.1015T>C	c.(1015-1017)TTG>CTG	p.L339L	IL5RA_uc010hbq.2_Silent_p.L244L|IL5RA_uc010hbr.2_Silent_p.L130L|IL5RA_uc010hbs.2_Silent_p.L339L|IL5RA_uc011asl.1_Silent_p.L339L|IL5RA_uc010hbp.2_Silent_p.L50L	NM_000564	NP_000555	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha isoform 1	339	Extracellular (Potential).				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			ovary(1)	1				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CACTCTCTCAAGGGCTTGTGT	0.338													G	3118291	A	G	3118291	2	3	27	1	0	0	0	0	0	0	0	1	7700	69	3	3		3	IL5RA	3	3118291	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	36358	3118291	194904139	1503	25454											
TRNT1	51095	broad.mit.edu	37	chr3	3188145	3188145	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaattgtagacaaacctggtGaccatgatcctgagactttg	10	8	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:3188145G>A	uc003bpp.3	+	6	742	c.640G>A	c.(640-642)GAC>AAC	p.D214N	TRNT1_uc010hbv.2_Missense_Mutation_p.D214N|TRNT1_uc003bpm.2_RNA	NM_182916	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	214					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding				0				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		CAAACCTGGTGACCATGATCC	0.378													A	3188145	G	A	3188145	3	1	27	1	0	0	0	0	1	0	0	0	16570	1290	45	4	658	4	TRNT1	3	3188145	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	69854	3188145	194834285	1504	25455											
CRBN	51185	broad.mit.edu	37	chr3	3192623	3192623	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggcaacagagcagatcGcgttaagccccaaaattttt	10	10	0	2	rs121918368		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:3192623G>A	uc003bpq.2	-	11	1274	c.1255C>T	c.(1255-1257)CGA>TGA	p.R419*	CRBN_uc003bpr.2_Nonsense_Mutation_p.R418*|CRBN_uc010hbw.2_Nonsense_Mutation_p.R375*	NM_016302	NP_057386	Q96SW2	CRBN_HUMAN	cereblon	419	Thalidomide-binding.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			ovary(1)	1				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		AGAGCAGATCGCGTTAAGCCC	0.423													A	3192623	G	A	3192623	4	1	27	1	0	0	0	0	0	1	0	0	3851	1095	38	1	77	1	CRBN	3	3192623	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4478	3192623	194829807	1505	25456											
CRBN	51185	broad.mit.edu	37	chr3	3192649	3192649	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agccccaaaatttttgaggtGacatgtcttttttggtggcc	10	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:3192649G>A	uc003bpq.2	-	11	1248	c.1229C>T	c.(1228-1230)TCA>TTA	p.S410L	CRBN_uc003bpr.2_Missense_Mutation_p.S409L|CRBN_uc010hbw.2_Missense_Mutation_p.S366L	NM_016302	NP_057386	Q96SW2	CRBN_HUMAN	cereblon	410	Thalidomide-binding.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			ovary(1)	1				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		TTTTTGAGGTGACATGTCTTT	0.423													A	3192649	G	A	3192649	3	1	27	1	0	0	0	0	1	0	0	0	3851	1294	45	4	103	4	CRBN	3	3192649	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	26	3192649	194829781	1506	25457											
LRRN1	57633	broad.mit.edu	37	chr3	3887314	3887314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaactctcttacatccaccGcttggctttccgaagtgtcc	6	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:3887314G>A	uc003bpt.3	+	2	1750	c.989G>A	c.(988-990)CGC>CAC	p.R330H	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	330	LRR 10.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TACATCCACCGCTTGGCTTTC	0.498													A	3887314	G	A	3887314	3	1	27	1	0	0	0	0	1	0	0	0	9034	1087	38	1	991	1	LRRN1	3	3887314	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	694665	3887314	194135116	1507	25458											
LRRN1	57633	broad.mit.edu	37	chr3	3887411	3887411	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acagtcgaatccctccccaaTctgcgtgagatcagtatcca	7	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:3887411T>A	uc003bpt.3	+	2	1847	c.1086T>A	c.(1084-1086)AAT>AAA	p.N362K	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	362	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCCTCCCCAATCTGCGTGAGA	0.493													A	3887411	T	A	3887411	3	1	27	1	0	0	0	0	1	0	0	0	9034	1432	50	5	1088	5	LRRN1	3	3887411	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	97	3887411	194135019	1508	25459											
LRRN1	57633	broad.mit.edu	37	chr3	3888210	3888210	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatctctgatcaagaaaccAgtacagcccttgctgcagta	7	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:3888210A>G	uc003bpt.3	+	2	2646	c.1885A>G	c.(1885-1887)AGT>GGT	p.S629G	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	629	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCAAGAAACCAGTACAGCCCT	0.438													G	3888210	A	G	3888210	3	3	27	1	0	0	0	0	1	0	0	0	9034	188	7	3	1887	3	LRRN1	3	3888210	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	799	3888210	194134220	1509	25460											
ITPR1	3708	broad.mit.edu	37	chr3	4558230	4558230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacatttgttctctgtacGcggagggatcgacaaatgga	13	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:4558230G>A	uc003bqa.2	+	3	403	c.55G>A	c.(55-57)GCG>ACG	p.A19T	ITPR1_uc010hbz.2_Missense_Mutation_p.A19T|ITPR1_uc010hca.1_Missense_Mutation_p.A19T|ITPR1_uc011asu.1_Missense_Mutation_p.A19T|ITPR1_uc010hcb.1_Missense_Mutation_p.A19T	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	19	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TTCTCTGTACGCGGAGGGATC	0.378													A	4558230	G	A	4558230	3	1	27	1	0	0	0	0	1	0	0	0	7920	1087	38	1	57	1	ITPR1	3	4558230	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	670020	4558230	193464200	1510	25461											
ITPR1	3708	broad.mit.edu	37	chr3	4687267	4687267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgtgttgactgtcaggGtgacgtggtgaggctgtttc	15	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:4687267G>A	uc003bqa.2	+	10	1058	c.710G>A	c.(709-711)GGT>GAT	p.G237D	ITPR1_uc010hbz.2_Missense_Mutation_p.G237D|ITPR1_uc010hca.1_Missense_Mutation_p.G237D|ITPR1_uc011asu.1_Missense_Mutation_p.G237D|ITPR1_uc010hcb.1_Missense_Mutation_p.G237D	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	237	MIR 3.|Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GACTGTCAGGGTGACGTGGTG	0.478													A	4687267	G	A	4687267	3	1	27	1	0	0	0	0	1	0	0	0	7920	1275	44	4	740	4	ITPR1	3	4687267	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	129037	4687267	193335163	1511	25462											
ITPR1	3708	broad.mit.edu	37	chr3	4715020	4715020	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaacaagtcacccccgTgaaatatgcccgcctctggt	9	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:4715020T>C	uc003bqa.2	+	21	2753	c.2405T>C	c.(2404-2406)GTG>GCG	p.V802A	ITPR1_uc010hca.1_Missense_Mutation_p.V787A|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.V787A	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	802	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GTCACCCCCGTGAAATATGCC	0.557													C	4715020	T	C	4715020	3	2	27	1	0	0	0	0	1	0	0	0	7920	1696	59	3	2479	3	ITPR1	3	4715020	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	27753	4715020	193307410	1512	25463											
ITPR1	3708	broad.mit.edu	37	chr3	4817108	4817108	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccgaatactgtcaaggAccttgccatgagaaccaggt	10	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:4817108A>G	uc003bqa.2	+	44	6366	c.6018A>G	c.(6016-6018)GGA>GGG	p.G2006G	ITPR1_uc010hca.1_Silent_p.G1991G|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Silent_p.G976G	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	2054	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ACTGTCAAGGACCTTGCCATG	0.413													G	4817108	A	G	4817108	2	3	27	1	0	0	0	0	0	0	0	1	7920	262	10	3		3	ITPR1	3	4817108	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	102088	4817108	193205322	1513	25464											
ITPR1	3708	broad.mit.edu	37	chr3	4842131	4842131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctggagccccactggtcGggactcctgtggacagccat	12	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:4842131G>A	uc003bqa.2	+	51	7158	c.6810G>A	c.(6808-6810)TCG>TCA	p.S2270S	ITPR1_uc010hca.1_Silent_p.S2255S|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Silent_p.S1240S|ITPR1_uc010hcc.1_Silent_p.S38S|ITPR1_uc011asv.1_5'UTR	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	2318	Helical; (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CCCACTGGTCGGGACTCCTGT	0.552													A	4842131	G	A	4842131	2	1	27	1	0	0	0	0	0	0	0	1	7920	1103	39	1		1	ITPR1	3	4842131	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	25023	4842131	193180299	1514	25465											
GRM7	2917	broad.mit.edu	37	chr3	6903101	6903101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctgaggaagctgctccGcgtcctgactttgatgaagt	12	11	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:6903101G>A	uc003bqm.2	+	1	300	c.26G>A	c.(25-27)CGC>CAC	p.R9H	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.R9H|GRM7_uc003bql.2_Missense_Mutation_p.R9H	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	9					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	AAGCTGCTCCGCGTCCTGACT	0.716													A	6903101	G	A	6903101	3	1	27	1	0	0	0	0	1	0	0	0	6802	1087	38	1	28	1	GRM7	3	6903101	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2060970	6903101	191119329	1515	25466											
LMCD1	29995	broad.mit.edu	37	chr3	8590426	8590426	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgatggaagaatttgtcaAgcaatataagagcgaggccc	11	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:8590426A>G	uc003bqq.2	+	4	674	c.560A>G	c.(559-561)AAG>AGG	p.K187R	LMCD1_uc011atd.1_Missense_Mutation_p.K114R|LMCD1_uc011ate.1_Missense_Mutation_p.K75R|LMCD1_uc011atf.1_Missense_Mutation_p.K114R	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	187	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GAATTTGTCAAGCAATATAAG	0.597													G	8590426	A	G	8590426	3	3	27	1	0	0	0	0	1	0	0	0	8844	72	3	3	574	3	LMCD1	3	8590426	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1687325	8590426	189432004	1516	25467											
C3orf32	51066	broad.mit.edu	37	chr3	8673737	8673737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagacaattcacttactaGtaaagggttgaaatgtccac	7	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:8673737G>A	uc003bqu.2	-	5	578	c.332C>T	c.(331-333)ACT>ATT	p.T111I	C3orf32_uc003bqz.2_Missense_Mutation_p.T111I|C3orf32_uc003bqt.2_Missense_Mutation_p.T60I|C3orf32_uc011atg.1_Missense_Mutation_p.T133I|C3orf32_uc003bqv.2_Missense_Mutation_p.T60I|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_RNA|C3orf32_uc003bqy.2_Missense_Mutation_p.T111I	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	hypothetical protein LOC51066	111										skin(1)	1						TCACTTACTAGTAAAGGGTTG	0.423													A	8673737	G	A	8673737	3	1	27	1	0	0	0	0	1	0	0	0	2222	1029	36	4	761	4	C3orf32	3	8673737	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	83311	8673737	189348693	1517	25468											
OXTR	5021	broad.mit.edu	37	chr3	8794806	8794806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggagcagcacaggaagcGctgcacgagttcgtggaaga	17	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:8794806G>A	uc003brc.2	-	4	1649	c.1027C>T	c.(1027-1029)CGC>TGC	p.R343C		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	343	Cytoplasmic (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	CACAGGAAGCGCTGCACGAGT	0.597													A	8794806	G	A	8794806	3	1	27	1	0	0	0	0	1	0	0	0	11338	1087	38	1	146	1	OXTR	3	8794806	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	121069	8794806	189227624	1518	25469											
OXTR	5021	broad.mit.edu	37	chr3	8794893	8794893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggctggccaggagcatgaCgatgatgaaggccgaggctg	18	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:8794893C>T	uc003brc.2	-	4	1562	c.940G>A	c.(940-942)GTC>ATC	p.V314I		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	314	Helical; Name=7; (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	AGGAGCATGACGATGATGAAG	0.557													T	8794893	C	T	8794893	3	4	27	1	0	0	0	0	1	0	0	0	11338	536	19	1	233	1	OXTR	3	8794893	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	87	8794893	189227537	1519	25470											
OXTR	5021	broad.mit.edu	37	chr3	8809641	8809641	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcgatgcttaggtgcttcAtgaagaagaagaggcgcgag	16	7	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:8809641A>G	uc003brc.2	-	3	855	c.233T>C	c.(232-234)ATG>ACG	p.M78T		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	78	Helical; Name=2; (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	TAGGTGCTTCATGAAGAAGAA	0.627													G	8809641	A	G	8809641	3	3	27	1	0	0	0	0	1	0	0	0	11338	217	8	3	944	3	OXTR	3	8809641	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	14748	8809641	189212789	1520	25471											
SETD5	55209	broad.mit.edu	37	chr3	9517581	9517581	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctttcctcagaactctAggtcgtcattgccatcagac	6	15	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:9517581A>G	uc003brt.2	+	23	4570	c.4135A>G	c.(4135-4137)AGG>GGG	p.R1379G	SETD5_uc003bru.2_Missense_Mutation_p.R1281G|SETD5_uc003brv.2_Missense_Mutation_p.R1268G|SETD5_uc010hck.2_Missense_Mutation_p.R861G|SETD5_uc003brx.2_Missense_Mutation_p.R1048G	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	1379	Ser-rich.									ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TCAGAACTCTAGGTCGTCATT	0.542													G	9517581	A	G	9517581	3	3	27	1	0	0	0	0	1	0	0	0	14134	411	15	3	4217	3	SETD5	3	9517581	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	707940	9517581	188504849	1521	25472											
ARPC4	10093	broad.mit.edu	37	chr3	9870609	9870609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttggatgggagagacacaaGggcctggacctcagttttct	13	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:9870609G>T	uc003btc.1	+	5	922	c.16G>T	c.(16-18)GGG>TGG	p.G6W	TTLL3_uc003btd.3_Intron|TTLL3_uc003btf.3_Intron|TTLL3_uc003btg.2_Intron|TTLL3_uc010hco.1_Intron|TTLL3_uc003bth.3_Intron|TTLL3_uc011atj.1_Intron|TTLL3_uc003btj.3_Intron|TTLL3_uc003bti.3_Intron			P59998	ARPC4_HUMAN	Homo sapiens Arp2/3 protein complex subunit p20-Arc (ARC20) mRNA, complete cds.	Error:Variant_position_missing_in_P59998_after_alignment					actin filament polymerization|actin nucleation	Arp2/3 protein complex|cell projection|cytoplasm	actin binding				0	Medulloblastoma(99;0.227)					AGAGACACAAGGGCCTGGACC	0.567													T	9870609	G	T	9870609	3	4	27	1	0	0	0	0	1	0	0	0	973	1015	35	5		5	ARPC4	3	9870609	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	353028	9870609	188151821	1522	25473											
IL17RC	84818	broad.mit.edu	37	chr3	9959109	9959109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccactgctctccggtgaGtctggaaccctggggagacg	13	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:9959109G>A	uc003bua.2	+	1	346	c.110G>A	c.(109-111)AGT>AAT	p.S37N	CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_Intron|IL17RC_uc011ato.1_Intron|IL17RC_uc010hcs.2_Intron|IL17RC_uc003btz.2_Intron|IL17RC_uc011atp.1_Intron|IL17RC_uc003bud.2_Intron|IL17RC_uc003bub.2_Intron|IL17RC_uc010hct.2_Intron|IL17RC_uc010hcu.2_Intron|IL17RC_uc010hcv.2_Intron|IL17RC_uc011atq.1_Intron|IL17RC_uc003buc.2_Intron	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C isoform 1 precursor	37	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|pancreas(1)	2						TCTCCGGTGAGTCTGGAACCC	0.607													A	9959109	G	A	9959109	3	1	27	1	0	0	0	0	1	0	0	0	7641	1029	36	4	112	4	IL17RC	3	9959109	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	88500	9959109	188063321	1523	25474											
PRRT3	285368	broad.mit.edu	37	chr3	9991568	9991568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcatctcttcagcaggggCgtggcggacatcagagttcc	14	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:9991568C>T	uc003bul.2	-	2	362	c.232G>A	c.(232-234)GCC>ACC	p.A78T	CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA|PRRT3_uc003bum.2_Missense_Mutation_p.A78T	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3 precursor	78	Extracellular (Potential).					integral to membrane					0						TCAGCAGGGGCGTGGCGGACA	0.627													T	9991568	C	T	9991568	3	4	27	1	0	0	0	0	1	0	0	0	12611	768	27	1	2725	1	PRRT3	3	9991568	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	32459	9991568	188030862	1524	25475											
FANCD2	2177	broad.mit.edu	37	chr3	10091175	10091175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctgctatgatgatgaatGctgtctttgtaaaggtatct	9	6	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:10091175G>A	uc003buw.2	+	17	1609	c.1531G>A	c.(1531-1533)GCT>ACT	p.A511T	FANCD2_uc003bux.1_Missense_Mutation_p.A511T|FANCD2_uc003buy.1_Missense_Mutation_p.A511T|FANCD2_uc010hcw.1_RNA	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	511					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GATGATGAATGCTGTCTTTGT	0.413			D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				A	10091175	G	A	10091175	3	1	27	1	0	0	0	0	1	0	0	0	5665	1319	46	2	1593	2	FANCD2	3	10091175	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	99607	10091175	187931255	1525	25476											
FANCD2	2177	broad.mit.edu	37	chr3	10130195	10130195	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggataaagagaagagcaacAtctctaatgaccagctccat	9	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:10130195A>G	uc003buw.2	+	35	3607	c.3529A>G	c.(3529-3531)ATC>GTC	p.I1177V	FANCD2_uc003bux.1_Missense_Mutation_p.I1177V|FANCD2_uc003buy.1_Missense_Mutation_p.I1177V|FANCD2_uc010hcw.1_RNA|C3orf24_uc003buz.2_Intron	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	1177					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GAAGAGCAACATCTCTAATGA	0.433			D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				G	10130195	A	G	10130195	3	3	27	1	0	0	0	0	1	0	0	0	5665	217	8	3	3663	3	FANCD2	3	10130195	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	39020	10130195	187892235	1526	25477											
IRAK2	3656	broad.mit.edu	37	chr3	10264468	10264468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgccagaggatttcatcCgggtggggcagctgacaaag	14	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:10264468C>T	uc003bve.1	+	9	1238	c.1162C>T	c.(1162-1164)CGG>TGG	p.R388W		NM_001570	NP_001561	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	388	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			lung(5)|breast(3)	8						GGATTTCATCCGGGTGGGGCA	0.527													T	10264468	C	T	10264468	3	4	27	1	0	0	0	0	1	0	0	0	7823	643	23	1	1196	1	IRAK2	3	10264468	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	134273	10264468	187757962	1527	25478											
ATP2B2	491	broad.mit.edu	37	chr3	10491114	10491114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaccacagcctcagtgccCcgcagctccatgagggagcg	12	15	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:10491114C>T	uc003bvt.2	-	2	553	c.114G>A	c.(112-114)CGG>CGA	p.R38R	ATP2B2_uc003bvv.2_Silent_p.R38R|ATP2B2_uc003bvw.2_Silent_p.R38R|ATP2B2_uc010hdp.2_Silent_p.R38R	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	38	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						CCTCAGTGCCCCGCAGCTCCA	0.552													T	10491114	C	T	10491114	2	4	27	1	0	0	0	0	0	0	0	1	1140	610	22	4		4	ATP2B2	3	10491114	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	226646	10491114	187531316	1528	25479											
HRH1	3269	broad.mit.edu	37	chr3	11302082	11302082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacatttgcacatgttcacCatctggctgggctacatcaa	8	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:11302082C>T	uc010hdr.2	+	2	1701	c.1359C>T	c.(1357-1359)ACC>ACT	p.T453T	HRH1_uc010hds.2_Silent_p.T453T|HRH1_uc010hdt.2_Silent_p.T453T|HRH1_uc003bwb.3_Silent_p.T453T	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	453	Helical; Name=7; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			large_intestine(1)|ovary(1)	2					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	ACATGTTCACCATCTGGCTGG	0.453													T	11302082	C	T	11302082	2	4	27	1	0	0	0	0	0	0	0	1	7355	581	21	4		4	HRH1	3	11302082	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	810968	11302082	186720348	1529	25480											
VGLL4	9686	broad.mit.edu	37	chr3	11643487	11643487	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctgggttctcccctgagaGcagcttcgcctacgcagaga	11	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:11643487G>T	uc003bwf.2	-	3	440	c.74C>A	c.(73-75)GCT>GAT	p.A25D	VGLL4_uc010hdx.1_Missense_Mutation_p.A31D|VGLL4_uc003bwg.2_Missense_Mutation_p.A30D|VGLL4_uc011aun.1_5'UTR	NM_014667	NP_055482	Q14135	VGLL4_HUMAN	vestigial like 4 isoform b	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		TCCCCTGAGAGCAGCTTCGCC	0.637													T	11643487	G	T	11643487	3	4	27	1	0	0	0	0	1	0	0	0	17158	971	34	5	838	5	VGLL4	3	11643487	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	341405	11643487	186378943	1530	25481											
RAF1	5894	broad.mit.edu	37	chr3	12632428	12632428	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaattgccaggttgtccttTgtcatgtaccccatgaaaag	8	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:12632428T>G	uc003bxf.3	-	12	1654	c.1239A>C	c.(1237-1239)ACA>ACC	p.T413T	RAF1_uc011aut.1_Silent_p.T198T|RAF1_uc011auu.1_Silent_p.T331T	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	413	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)	GGTTGTCCTTTGTCATGTACC	0.433			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome				G	12632428	T	G	12632428	2	3	27	1	0	0	0	0	0	0	0	1	13002	1799	63	5		5	RAF1	3	12632428	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	988941	12632428	185390002	1531	25482											
RAF1	5894	broad.mit.edu	37	chr3	12641249	12641249	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccaatccgagtggacagcAtcacttcactggcttctatt	7	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:12641249A>G	uc003bxf.3	-	10	1464	c.1049T>C	c.(1048-1050)ATG>ACG	p.M350T	RAF1_uc011aut.1_Missense_Mutation_p.M135T|RAF1_uc011auu.1_Missense_Mutation_p.M268T	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	350	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)	AGTGGACAGCATCACTTCACT	0.458			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome				G	12641249	A	G	12641249	3	3	27	1	0	0	0	0	1	0	0	0	13002	217	8	3	929	3	RAF1	3	12641249	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	8821	12641249	185381181	1532	25483											
TMEM40	55287	broad.mit.edu	37	chr3	12783956	12783956	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgggcaactgattacctcCatagagttgaagctcatcct	8	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:12783956C>A	uc003bxg.1	-	5	479	c.352G>T	c.(352-354)GGA>TGA	p.G118*	TMEM40_uc003bxh.1_Nonsense_Mutation_p.G88*|TMEM40_uc003bxi.1_Nonsense_Mutation_p.G42*|TMEM40_uc011auv.1_Nonsense_Mutation_p.G134*	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	118						integral to membrane					0						TGATTACCTCCATAGAGTTGA	0.493													A	12783956	C	A	12783956	4	1	27	1	0	0	0	0	0	1	0	0	16160	603	21	5	381	5	TMEM40	3	12783956	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	142707	12783956	185238474	1533	25484											
CAND2	23066	broad.mit.edu	37	chr3	12858333	12858333	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccgccatcaaggcgctTacgctggtggccgtatcccc	11	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:12858333T>C	uc003bxk.2	+	10	1951	c.1902T>C	c.(1900-1902)CTT>CTC	p.L634L	CAND2_uc003bxj.2_Silent_p.L541L	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	634	HEAT 13.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						TCAAGGCGCTTACGCTGGTGG	0.632													C	12858333	T	C	12858333	2	2	27	1	0	0	0	0	0	0	0	1	2616	1741	61	3		3	CAND2	3	12858333	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	74377	12858333	185164097	1534	25485											
IQSEC1	9922	broad.mit.edu	37	chr3	12944311	12944311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatcccgcactgctgcgacGccctcgcttccctgcccaga	9	20	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:12944311G>A	uc003bxt.2	-	13	2818	c.2809C>T	c.(2809-2811)CGT>TGT	p.R937C	IQSEC1_uc003bxu.3_Intron|IQSEC1_uc011auw.1_Missense_Mutation_p.R923C	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	937					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						CTGCTGCGACGCCCTCGCTTC	0.617													A	12944311	G	A	12944311	3	1	27	1	0	0	0	0	1	0	0	0	7817	1087	38	1	635	1	IQSEC1	3	12944311	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	85978	12944311	185078119	1535	25486											
IQSEC1	9922	broad.mit.edu	37	chr3	12977116	12977116	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggagctgcagttgatggtaTcgttggagttggacgtgctg	17	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:12977116T>C	uc003bxt.2	-	3	1451	c.1442A>G	c.(1441-1443)GAT>GGT	p.D481G	IQSEC1_uc003bxu.3_Missense_Mutation_p.D359G|IQSEC1_uc011auw.1_Missense_Mutation_p.D467G	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	481					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						GTTGATGGTATCGTTGGAGTT	0.582													C	12977116	T	C	12977116	3	2	27	1	0	0	0	0	1	0	0	0	7817	1435	50	3	2042	3	IQSEC1	3	12977116	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	32805	12977116	185045314	1536	25487											
NUP210	23225	broad.mit.edu	37	chr3	13363106	13363106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaagttctccagaacctcCggggcaccaaagaccctgat	8	15	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:13363106C>T	uc003bxv.1	-	36	5228	c.5145G>A	c.(5143-5145)CCG>CCA	p.P1715P		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1715	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					CCAGAACCTCCGGGGCACCAA	0.607													T	13363106	C	T	13363106	2	4	27	1	0	0	0	0	0	0	0	1	10760	639	23	1		1	NUP210	3	13363106	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	385990	13363106	184659324	1537	25488											
NUP210	23225	broad.mit.edu	37	chr3	13370369	13370369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacggtcattcccaaaggCacggccaccagggcctcctt	10	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:13370369C>T	uc003bxv.1	-	31	4271	c.4188G>A	c.(4186-4188)GTG>GTA	p.V1396V		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1396	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					TTCCCAAAGGCACGGCCACCA	0.537													T	13370369	C	T	13370369	2	4	27	1	0	0	0	0	0	0	0	1	10760	697	25	2		2	NUP210	3	13370369	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	7263	13370369	184652061	1538	25489											
HDAC11	79885	broad.mit.edu	37	chr3	13538268	13538268	+	Frame_Shift_Del	DEL	C	C	-													gttgctaccatcacagaaatCccccccgttatcttcctccc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:13538267_13538267TC>T	uc003bxy.3	+	3	417	c.284_284TC>T	c.(283-285)atcfs	p.I95fs	HDAC11_uc010heb.3_Frame_Shift_Del_p.I67fs|HDAC11_uc011aux.2_Intron|HDAC11_uc011auy.2_Intron	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	Homo sapiens histone deacetylase 11 (HDAC11), transcript variant 1, mRNA.	95	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						ATCACAGAAATCCCCCCCGTT	0.577											OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	13538268	C	-	13538268	7	5	27	1	0	1	0	1	0	0	0	0	7006	845	30	0	299	0	HDAC11	3	13538268	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	167899	13538268	184484162	1539	25490											
WNT7A	7476	broad.mit.edu	37	chr3	13896295	13896295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggtgaacgcagcctcccGgctccctgcgaggaggagag	16	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:13896295G>A	uc003bye.1	-	3	609	c.304C>T	c.(304-306)CGG>TGG	p.R102W		NM_004625	NP_004616	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family,	102					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			ovary(2)|breast(1)	3						GCAGCCTCCCGGCTCCCTGCG	0.627													A	13896295	G	A	13896295	3	1	27	1	0	0	0	0	1	0	0	0	17391	1115	39	1	753	1	WNT7A	3	13896295	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	358027	13896295	184126135	1540	25491											
GRIP2	80852	broad.mit.edu	37	chr3	14545130	14545130	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctccaggtcttcgagagcttCtccaaacatgcgccagaagc	9	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:14545130C>A	uc011avi.1	-	22	2917	c.2917G>T	c.(2917-2919)GAA>TAA	p.E973*	GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Nonsense_Mutation_p.E504*	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	875					synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1						TCGAGAGCTTCTCCAAACATG	0.652													A	14545130	C	A	14545130	4	1	27	1	0	0	0	0	0	1	0	0	6788	922	32	5	523	5	GRIP2	3	14545130	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	648835	14545130	183477300	1541	25492											
C3orf19	51244	broad.mit.edu	37	chr3	14708358	14708358	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctattatctgaagatatgAgaaaagaacttcagcgccag	8	9	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:14708358A>G	uc003byw.2	+	7	719	c.628A>G	c.(628-630)AGA>GGA	p.R210G	C3orf19_uc010hei.1_Missense_Mutation_p.R210G|C3orf19_uc010hej.2_Missense_Mutation_p.R115G	NM_016474	NP_057558	Q6PII3	CC019_HUMAN	hypothetical protein LOC51244	210											0						TGAAGATATGAGAAAAGAACT	0.413													G	14708358	A	G	14708358	3	3	27	1	0	0	0	0	1	0	0	0	2212	296	11	3	654	3	C3orf19	3	14708358	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	163228	14708358	183314072	1542	25493											
C3orf20	84077	broad.mit.edu	37	chr3	14802989	14802989	+	Frame_Shift_Del	DEL	G	G	-													cctgtcaacagatgtttgccGgggggaagctcatttttggg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:14802988_14802988CG>C	uc003byy.3	+	14	2813	c.2361_2361CG>C	c.(2359-2361)gccfs	p.A787fs	C3orf20_uc003byz.3_Frame_Shift_Del_p.A665fs|C3orf20_uc003bza.3_Frame_Shift_Del_p.A665fs|C3orf20_uc003bzb.1_Frame_Shift_Del_p.A288fs|C3orf20_uc011avj.2_Frame_Shift_Del_p.A114fs	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	787						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGATGTTTGCCGGGGGGAAGC	0.473													-	14802989	G	-	14802989	7	5	27	1	0	1	0	1	0	0	0	0	2213	1116	39	0	2412	0	C3orf20	3	14802989	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	94631	14802989	183219441	1543	25494											
FGD5	152273	broad.mit.edu	37	chr3	14862604	14862604	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgtggatgtgaacgtgTcttcctctaggtcctcttca	10	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:14862604T>C	uc003bzc.2	+	1	2136	c.2026T>C	c.(2026-2028)TCT>CCT	p.S676P	FGD5_uc011avk.1_Missense_Mutation_p.S676P	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	676					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						TGTGAACGTGTCTTCCTCTAG	0.507													C	14862604	T	C	14862604	3	2	27	1	0	0	0	0	1	0	0	0	5836	1667	58	3	2028	3	FGD5	3	14862604	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	59615	14862604	183159826	1544	25495											
FGD5	152273	broad.mit.edu	37	chr3	14949150	14949150	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccattcccacccacaggaaAacctgcagaagctggtccac	7	17	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:14949150A>G	uc003bzc.2	+	10	3378	c.3268A>G	c.(3268-3270)AAC>GAC	p.N1090D	FGD5_uc011avk.1_Missense_Mutation_p.N1090D|FGD5_uc003bzd.2_Missense_Mutation_p.N168D	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1090					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						CCCACAGGAAAACCTGCAGAA	0.597													G	14949150	A	G	14949150	3	3	27	1	0	0	0	0	1	0	0	0	5836	14	1	3	3306	3	FGD5	3	14949150	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	86546	14949150	183073280	1545	25496											
FGD5	152273	broad.mit.edu	37	chr3	14960286	14960286	+	Missense_Mutation	SNP	T	T	C													ccgccctgtgatggagaaagTgccctacgctctaaagattg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:14960286T>C	uc003bzc.2	+	13	3625	c.3515T>C	c.(3514-3516)GTG>GCG	p.V1172A	FGD5_uc011avk.1_Missense_Mutation_p.V1172A|FGD5_uc003bzd.2_Missense_Mutation_p.V250A	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1172	PH 1.				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						ATGGAGAAAGTGCCCTACGCT	0.607													C	14960286	T	C	14960286	3	2	27	1	0	0	0	0	1	0	0	0	5836	1696	59	3	3565	3	FGD5	3	14960286	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	11136	14960286	183062144	1546	25497	85	2									
FGD5	152273	broad.mit.edu	37	chr3	14960290	14960290	+	Silent	SNP	C	C	A													cctgtgatggagaaagtgccCtacgctctaaagattgagac							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:14960290C>A	uc003bzc.2	+	13	3629	c.3519C>A	c.(3517-3519)CCC>CCA	p.P1173P	FGD5_uc011avk.1_Silent_p.P1173P|FGD5_uc003bzd.2_Silent_p.P251P	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1173	PH 1.				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						AGAAAGTGCCCTACGCTCTAA	0.602													A	14960290	C	A	14960290	2	1	27	1	0	0	0	0	0	0	0	1	5836	668	24	5		5	FGD5	3	14960290	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4	14960290	183062140	1547	25498	85	2									
FGD5	152273	broad.mit.edu	37	chr3	14967691	14967691	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaaagttctctacaccTacatggccagtgaggtagta	10	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:14967691T>C	uc003bzc.2	+	18	4293	c.4183T>C	c.(4183-4185)TAC>CAC	p.Y1395H	FGD5_uc011avk.1_Intron|FGD5_uc003bzd.2_Missense_Mutation_p.Y473H	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1395	PH 2.				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						TCTCTACACCTACATGGCCAG	0.547											OREG0015361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	14967691	T	C	14967691	3	2	27	1	0	0	0	0	1	0	0	0	5836	1522	53	3	4253	3	FGD5	3	14967691	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	7401	14967691	183054739	1548	25499											
MRPS25	64432	broad.mit.edu	37	chr3	15094115	15094115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgagaaagctgctttttctCctcctcctcttccctgaggg	9	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:15094115C>T	uc003bzl.2	-	4	470	c.355G>A	c.(355-357)GAG>AAG	p.E119K	MRPS25_uc011avl.1_Silent_p.R89R|MRPS25_uc011avm.1_Intron	NM_022497	NP_071942	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	119					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0						TGCTTTTTCTCCTCCTCCTCT	0.582													T	15094115	C	T	15094115	3	4	27	1	0	0	0	0	1	0	0	0	9836	864	30	4	170	4	MRPS25	3	15094115	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	126424	15094115	182928315	1549	25500											
ZFYVE20	64145	broad.mit.edu	37	chr3	15116040	15116040	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggatgccacccgaaactgcTccctttctcgttccaactcc	7	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:15116040T>A	uc003bzm.1	-	14	2218	c.1604A>T	c.(1603-1605)GAG>GTG	p.E535V	ZFYVE20_uc010hek.1_Missense_Mutation_p.E535V	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	535	Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						CCGAAACTGCTCCCTTTCTCG	0.617													A	15116040	T	A	15116040	3	1	27	1	0	0	0	0	1	0	0	0	17663	1551	54	5	754	5	ZFYVE20	3	15116040	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	21925	15116040	182906390	1550	25501											
ZFYVE20	64145	broad.mit.edu	37	chr3	15116197	15116197	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggttctcctgcagagtgcGcacttcatccatgcggcccg	11	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:15116197G>T	uc003bzm.1	-	14	2061	c.1447C>A	c.(1447-1449)CGC>AGC	p.R483S	ZFYVE20_uc010hek.1_Missense_Mutation_p.R483S	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	483	Necessary for the interaction with RAB4A.|Potential.|Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						TGCAGAGTGCGCACTTCATCC	0.617													T	15116197	G	T	15116197	3	4	27	1	0	0	0	0	1	0	0	0	17663	1087	38	5	911	5	ZFYVE20	3	15116197	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	157	15116197	182906233	1551	25502											
ANKRD28	23243	broad.mit.edu	37	chr3	15731544	15731544	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgctgcatgaataggtgTcctcttcaaaatgtaatctt	7	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:15731544T>C	uc003caj.1	-	18	1998	c.1855A>G	c.(1855-1857)ACA>GCA	p.T619A	ANKRD28_uc003cai.1_Missense_Mutation_p.T465A|ANKRD28_uc011avz.1_Missense_Mutation_p.T465A|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.T649A|ANKRD28_uc003cam.2_Missense_Mutation_p.T652A	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	619	ANK 18.					nucleoplasm	protein binding			breast(1)	1						TGAATAGGTGTCCTCTTCAAA	0.338													C	15731544	T	C	15731544	3	2	27	1	0	0	0	0	1	0	0	0	656	1667	58	3	1350	3	ANKRD28	3	15731544	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	615347	15731544	182290886	1552	25503											
ANKRD28	23243	broad.mit.edu	37	chr3	15753728	15753728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacattccatgtatgccacGcctaaagttaatagaacagg	8	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:15753728G>A	uc003caj.1	-	11	1245	c.1102C>T	c.(1102-1104)CGT>TGT	p.R368C	ANKRD28_uc003cai.1_Missense_Mutation_p.R214C|ANKRD28_uc011avz.1_Missense_Mutation_p.R214C|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.R398C|ANKRD28_uc003cam.2_Missense_Mutation_p.R401C	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	368						nucleoplasm	protein binding			breast(1)	1						TGTATGCCACGCCTAAAGTTA	0.373													A	15753728	G	A	15753728	3	1	27	1	0	0	0	0	1	0	0	0	656	1101	38	1	2131	1	ANKRD28	3	15753728	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	22184	15753728	182268702	1553	25504											
ANKRD28	23243	broad.mit.edu	37	chr3	15756166	15756167	+	Splice_Site	INS	-	-	G													gttttcccatctttactctgINSgggggggaagaaaaaaatta							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:15756165_15756166T>TG	uc003caj.1	-	9	1050	c.907_splice	c.e9-1	p.S303_splice	ANKRD28_uc003cai.1_Splice_Site_p.S149_splice|ANKRD28_uc011avz.1_Splice_Site_p.S149_splice|ANKRD28_uc003cak.1_Splice_Site|ANKRD28_uc011awa.1_Splice_Site|ANKRD28_uc003cal.1_Splice_Site_p.S333_splice|ANKRD28_uc003cam.2_Splice_Site_p.S336_splice	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	303						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ATCTTTACTCTGGGGGGGGAAG	0.361													G	15756167	-	G	15756166	8	5	27	1	0	1	1	0	0	0	1	0	656	1363	47	0		0	ANKRD28	3	15756166	Splice_Site	INS	-	TCGA-BR-6452-01A-12D-1800-08	2438	15756166	182266264	1554	25505											
GALNTL2	117248	broad.mit.edu	37	chr3	16260950	16260950	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaacgcttgcagctgcaaaGgagactgggttgtcggacat	15	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:16260950G>T	uc003car.3	+	7	1908	c.1433G>T	c.(1432-1434)AGG>ATG	p.R478M	GALNTL2_uc003caq.3_Missense_Mutation_p.R211M|GALNTL2_uc003cas.3_Missense_Mutation_p.R8M	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	478	Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1						CAGCTGCAAAGGAGACTGGGT	0.522													T	16260950	G	T	16260950	3	4	27	1	0	0	0	0	1	0	0	0	6222	1000	35	5	1459	5	GALNTL2	3	16260950	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	504784	16260950	181761480	1555	25506											
GALNTL2	117248	broad.mit.edu	37	chr3	16261424	16261424	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccactttcagctccacaAcactggacttgggctctgtg	9	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:16261424A>C	uc003car.3	+	8	2007	c.1532A>C	c.(1531-1533)AAC>ACC	p.N511T	GALNTL2_uc003caq.3_Missense_Mutation_p.N244T|GALNTL2_uc003cas.3_Missense_Mutation_p.N41T	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	511	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1						CAGCTCCACAACACTGGACTT	0.547													C	16261424	A	C	16261424	3	2	27	1	0	0	0	0	1	0	0	0	6222	43	2	5	1562	5	GALNTL2	3	16261424	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	474	16261424	181761006	1556	25507											
PLCL2	23228	broad.mit.edu	37	chr3	17053060	17053060	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaggtctccttcttcaGcgccaatacaaaagactctg	10	11	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:17053060G>T	uc011awc.1	+	5	2303	c.2198G>T	c.(2197-2199)AGC>ATC	p.S733I	PLCL2_uc011awd.1_Missense_Mutation_p.S615I	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 1	741	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(2)|ovary(1)|lung(1)	4						TCCTTCTTCAGCGCCAATACA	0.512													T	17053060	G	T	17053060	3	4	27	1	0	0	0	0	1	0	0	0	12040	971	34	5	2222	5	PLCL2	3	17053060	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	791636	17053060	180969370	1557	25508											
TBC1D5	9779	broad.mit.edu	37	chr3	17202688	17202688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcccatcatcatctttggAaatcaggatgaagtcatcgg	9	10	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:17202688A>G	uc003cbf.2	-	22	3820	c.2155T>C	c.(2155-2157)TCC>CCC	p.S719P	TBC1D5_uc010heu.2_Missense_Mutation_p.S306P|TBC1D5_uc010hev.2_Missense_Mutation_p.S741P|TBC1D5_uc003cbe.2_Missense_Mutation_p.S719P	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	719						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						TCATCTTTGGAAATCAGGATG	0.547													G	17202688	A	G	17202688	3	3	27	1	0	0	0	0	1	0	0	0	15620	246	9	3	236	3	TBC1D5	3	17202688	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	149628	17202688	180819742	1558	25509											
TBC1D5	9779	broad.mit.edu	37	chr3	17549984	17549984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctccagacttgttagagtAactggacaaggggtcaatgc	11	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:17549984A>G	uc003cbf.2	-	3	1744	c.79T>C	c.(79-81)TAC>CAC	p.Y27H	TBC1D5_uc010hev.2_Missense_Mutation_p.Y27H|TBC1D5_uc003cbe.2_Missense_Mutation_p.Y27H	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	27						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						TTGTTAGAGTAACTGGACAAG	0.463													G	17549984	A	G	17549984	3	3	27	1	0	0	0	0	1	0	0	0	15620	362	13	3	2458	3	TBC1D5	3	17549984	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	347296	17549984	180472446	1559	25510											
SATB1	6304	broad.mit.edu	37	chr3	18456661	18456661	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatatctttcagtaagtccTtcagagcattcctcactgtg	6	11	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:18456661T>G	uc003cbh.2	-	5	2316	c.581A>C	c.(580-582)AAG>ACG	p.K194T	SATB1_uc003cbi.2_Missense_Mutation_p.K194T|SATB1_uc003cbj.2_Missense_Mutation_p.K194T	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	194	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						CAGTAAGTCCTTCAGAGCATT	0.423													G	18456661	T	G	18456661	3	3	27	1	0	0	0	0	1	0	0	0	13853	1609	56	5	1738	5	SATB1	3	18456661	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	906677	18456661	179565769	1560	25511											
KCNH8	131096	broad.mit.edu	37	chr3	19389261	19389261	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttccggagtataaagtttcTgatgcaaaaaagtccaaatt	7	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:19389261T>C	uc003cbk.1	+	5	810	c.615T>C	c.(613-615)TCT>TCC	p.S205S	KCNH8_uc011awe.1_Silent_p.S205S|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	205	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						ATAAAGTTTCTGATGCAAAAA	0.368													C	19389261	T	C	19389261	2	2	27	1	0	0	0	0	0	0	0	1	8038	1567	55	3		3	KCNH8	3	19389261	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	932600	19389261	178633169	1561	25512											
KCNH8	131096	broad.mit.edu	37	chr3	19554610	19554610	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttcgcgcaacaagaaggttgGaagcaataaagcctacctgg	11	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:19554610G>T	uc003cbk.1	+	13	2423	c.2228G>T	c.(2227-2229)GGA>GTA	p.G743V	KCNH8_uc010hex.1_Missense_Mutation_p.G204V	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	743	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						AAGAAGGTTGGAAGCAATAAA	0.418													T	19554610	G	T	19554610	3	4	27	1	0	0	0	0	1	0	0	0	8038	1174	41	5	2278	5	KCNH8	3	19554610	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	165349	19554610	178467820	1562	25513											
KCNH8	131096	broad.mit.edu	37	chr3	19559491	19559491	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatgtgtgtcacttttcagaTccagagattggagctgctgt	11	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:19559491T>A	uc003cbk.1	+	15	2739	c.2544T>A	c.(2542-2544)GAT>GAA	p.D848E	KCNH8_uc010hex.1_Missense_Mutation_p.D309E	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	848	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						ACTTTTCAGATCCAGAGATTG	0.408													A	19559491	T	A	19559491	3	1	27	1	0	0	0	0	1	0	0	0	8038	1449	50	5	2602	5	KCNH8	3	19559491	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4881	19559491	178462939	1563	25514											
KCNH8	131096	broad.mit.edu	37	chr3	19575180	19575180	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtggggagcagcccccaAcgaactggagctcatgagca	13	12	2	1	rs145364018		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:19575180A>G	uc003cbk.1	+	16	3108	c.2913A>G	c.(2911-2913)CAA>CAG	p.Q971Q	KCNH8_uc010hex.1_Silent_p.Q432Q	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	971	Ser-rich.|Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						GCAGCCCCCAACGAACTGGAG	0.493													G	19575180	A	G	19575180	2	3	27	1	0	0	0	0	0	0	0	1	8038	40	2	3		3	KCNH8	3	19575180	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	15689	19575180	178447250	1564	25515											
EFHB	151651	broad.mit.edu	37	chr3	19959879	19959879	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgttgaaatgtggtaataGgctgtgggtttatcaatgtg	13	3	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:19959879G>T	uc003cbl.3	-	4	1218	c.1022C>A	c.(1021-1023)CCT>CAT	p.P341H	EFHB_uc003cbm.2_Missense_Mutation_p.P211H	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	341					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0						TGTGGTAATAGGCTGTGGGTT	0.313													T	19959879	G	T	19959879	3	4	27	1	0	0	0	0	1	0	0	0	4945	1000	35	5	1519	5	EFHB	3	19959879	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	384699	19959879	178062551	1565	25516											
RAB5A	5868	broad.mit.edu	37	chr3	20017562	20017562	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctttgcaagagcaaaaaaTtgggttaaagaacttcagag	9	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:20017562T>A	uc003cbn.2	+	4	874	c.339T>A	c.(337-339)AAT>AAA	p.N113K	RAB5A_uc010hey.2_RNA|RAB5A_uc011awg.1_Missense_Mutation_p.N99K	NM_004162	NP_004153	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	113					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity				0						GAGCAAAAAATTGGGTTAAAG	0.398													A	20017562	T	A	20017562	3	1	27	1	0	0	0	0	1	0	0	0	12948	1490	52	5	349	5	RAB5A	3	20017562	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	57683	20017562	178004868	1566	25517											
KAT2B	8850	broad.mit.edu	37	chr3	20164248	20164248	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccgatggaattaatcaaCgaggttatgtctaccatcac	7	9	3	0	rs149881135		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:20164248C>T	uc003cbq.2	+	9	1811	c.1365C>T	c.(1363-1365)AAC>AAT	p.N455N		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	455					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AATTAATCAACGAGGTTATGT	0.498													T	20164248	C	T	20164248	2	4	27	1	0	0	0	0	0	0	0	1	7982	535	19	1		1	KAT2B	3	20164248	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	146686	20164248	177858182	1567	25518											
NKIRAS1	28512	broad.mit.edu	37	chr3	23952357	23952357	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attgcagttttccccacagaTaacaatccacaaaccacaac	3	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:23952357T>A	uc003ccj.2	-	3	441	c.39A>T	c.(37-39)TTA>TTT	p.L13F	NKIRAS1_uc003cck.2_Missense_Mutation_p.L13F|NKIRAS1_uc003ccl.2_Missense_Mutation_p.L13F|NKIRAS1_uc003ccm.2_Missense_Mutation_p.L13F	NM_020345	NP_065078	Q9NYS0	KBRS1_HUMAN	kappa B-ras 1	13	GTP (By similarity).				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity				0						TCCCCACAGATAACAATCCAC	0.388													A	23952357	T	A	23952357	3	1	27	1	0	0	0	0	1	0	0	0	10444	1403	49	5	551	5	NKIRAS1	3	23952357	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3788109	23952357	174070073	1568	25519											
NR1D2	9975	broad.mit.edu	37	chr3	24003739	24003739	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccagagctcacaaggaTacctttatgtataatcaaga	8	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:24003739T>A	uc003ccs.2	+	5	1108	c.789T>A	c.(787-789)GAT>GAA	p.D263E	NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.D188E	NM_005126	NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	263					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			urinary_tract(1)|kidney(1)|skin(1)	3						CTCACAAGGATACCTTTATGT	0.438													A	24003739	T	A	24003739	3	1	27	1	0	0	0	0	1	0	0	0	10616	1403	49	5	807	5	NR1D2	3	24003739	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	51382	24003739	174018691	1569	25520											
THRB	7068	broad.mit.edu	37	chr3	24164394	24164394	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctaatcctcgaacacttccAagaacaaaggggggaagagt	10	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:24164394A>G	uc003ccx.3	-	11	1716	c.1367T>C	c.(1366-1368)TTG>TCG	p.L456S	THRB_uc010hfe.2_Missense_Mutation_p.L456S|THRB_uc003ccy.3_Missense_Mutation_p.L456S|THRB_uc003ccz.3_Missense_Mutation_p.L451S	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	456	Ligand-binding.|Interaction with NR2F6.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)	GAACACTTCCAAGAACAAAGG	0.473													G	24164394	A	G	24164394	3	3	27	1	0	0	0	0	1	0	0	0	15872	131	5	3	22	3	THRB	3	24164394	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	160655	24164394	173858036	1570	25521											
THRB	7068	broad.mit.edu	37	chr3	24193924	24193924	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcggtagtgatacccggtgGctttgtcaccacacactaca	10	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:24193924G>C	uc003ccx.3	-	6	690	c.341C>G	c.(340-342)GCC>GGC	p.A114G	THRB_uc010hfe.2_Missense_Mutation_p.A114G|THRB_uc003ccy.3_Missense_Mutation_p.A114G|THRB_uc003ccz.3_Missense_Mutation_p.A109G|THRB_uc003cdc.2_Missense_Mutation_p.A109G|THRB_uc003cdd.2_Missense_Mutation_p.A109G|THRB_uc003cde.1_Missense_Mutation_p.A109G|THRB_uc003cda.1_Missense_Mutation_p.A129G	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	114	Nuclear receptor.|NR C4-type.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)	ATACCCGGTGGCTTTGTCACC	0.478													C	24193924	G	C	24193924	3	2	27	1	0	0	0	0	1	0	0	0	15872	1203	42	5	1068	5	THRB	3	24193924	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	29530	24193924	173828506	1571	25522											
RARB	5915	broad.mit.edu	37	chr3	25215993	25215993	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttccacctgtcatcggaggActttccctgcctcccctcca	6	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:25215993A>T	uc011awl.1	+	1	171	c.105A>T	c.(103-105)GGA>GGT	p.G35G		NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	35	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TCATCGGAGGACTTTCCCTGC	0.597													T	25215993	A	T	25215993	2	4	27	1	0	0	0	0	0	0	0	1	13053	290	10	5		5	RARB	3	25215993	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1022069	25215993	172806437	1572	25523											
RARB	5915	broad.mit.edu	37	chr3	25502818	25502818	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accactatggggtcagcgccTgtgagggatgtaaggtgagt	16	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:25502818T>A	uc011awl.1	+	2	379	c.313T>A	c.(313-315)TGT>AGT	p.C105S	RARB_uc003cdi.1_5'UTR|RARB_uc003cdh.2_Missense_Mutation_p.C98S	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	105	NR C4-type.|Nuclear receptor.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GGTCAGCGCCTGTGAGGGATG	0.527													A	25502818	T	A	25502818	3	1	27	1	0	0	0	0	1	0	0	0	13053	1580	55	5	298	5	RARB	3	25502818	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	286825	25502818	172519612	1573	25524											
TOP2B	7155	broad.mit.edu	37	chr3	25641012	25641012	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccttttctttgcccctcGgcctttaccttaaaatgata	4	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:25641012G>A	uc003cdj.2	-	35	4609	c.4609C>T	c.(4609-4611)CGA>TGA	p.R1537*	TOP2B_uc011awm.1_Nonsense_Mutation_p.R394*|TOP2B_uc010hff.1_Nonsense_Mutation_p.R403*	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	1542					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						TTTGCCCCTCGGCCTTTACCT	0.388													A	25641012	G	A	25641012	4	1	27	1	0	0	0	0	0	1	0	0	16363	1124	39	1	264	1	TOP2B	3	25641012	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	138194	25641012	172381418	1574	25525											
TOP2B	7155	broad.mit.edu	37	chr3	25685185	25685185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcctaagcaagtactcacCcaaaatttcatcaaagatct	3	11	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:25685185C>T	uc011awn.1	-	3	374	c.331G>A	c.(331-333)GTT>ATT	p.V111I	TOP2B_uc003cdj.2_Missense_Mutation_p.V106I	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	111					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						AAGTACTCACCCAAAATTTCA	0.343													T	25685185	C	T	25685185	3	4	27	1	0	0	0	0	1	0	0	0	16363	637	22	4	4685	4	TOP2B	3	25685185	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	44173	25685185	172337245	1575	25526											
TOP2B	7155	broad.mit.edu	37	chr3	25685220	25685220	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatcttgtataaacctggcAcaaaggtaacctccctgcaa	7	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:25685220A>G	uc011awn.1	-	3	339	c.296T>C	c.(295-297)GTG>GCG	p.V99A	TOP2B_uc003cdj.2_Missense_Mutation_p.V94A	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	99					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						TAAACCTGGCACAAAGGTAAC	0.308													G	25685220	A	G	25685220	3	3	27	1	0	0	0	0	1	0	0	0	16363	159	6	3	4720	3	TOP2B	3	25685220	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	35	25685220	172337210	1576	25527											
NEK10	152110	broad.mit.edu	37	chr3	27204208	27204208	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacctggtcttggtcttgaTcctgttcctccagtgaagtc	9	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:27204208T>A	uc010hfk.2	-	9	1018	c.789A>T	c.(787-789)GGA>GGT	p.G263G	NEK10_uc003cds.1_Silent_p.G348G|NEK10_uc010hfj.2_Silent_p.G263G			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	951							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						TTGGTCTTGATCCTGTTCCTC	0.373													A	27204208	T	A	27204208	2	1	27	1	0	0	0	0	0	0	0	1	10322	1450	50	5		5	NEK10	3	27204208	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1518988	27204208	170818222	1577	25528											
ZCWPW2	152098	broad.mit.edu	37	chr3	28454686	28454686	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaattgtttgaaatggagaTtgttatcaagtgaggattca	10	2	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:28454686T>C	uc003ceh.2	+	3	295	c.127T>C	c.(127-129)TTG>CTG	p.L43L	ZCWPW2_uc003cei.2_Silent_p.L43L	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	43	CW-type.						zinc ion binding			ovary(2)	2						GAAATGGAGATTGTTATCAAG	0.348													C	28454686	T	C	28454686	2	2	27	1	0	0	0	0	0	0	0	1	17595	1490	52	3		3	ZCWPW2	3	28454686	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1250478	28454686	169567744	1578	25529											
ZCWPW2	152098	broad.mit.edu	37	chr3	28566019	28566019	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatatggttgttttgcagtTatctaaatgcagcccagaag	9	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:28566019T>C	uc003ceh.2	+	10	1079	c.911T>C	c.(910-912)TTA>TCA	p.L304S	ZCWPW2_uc003cei.2_Missense_Mutation_p.L304S|ZCWPW2_uc010hfo.2_Missense_Mutation_p.L109S	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	304							zinc ion binding			ovary(2)	2						GTTTTGCAGTTATCTAAATGC	0.353													C	28566019	T	C	28566019	3	2	27	1	0	0	0	0	1	0	0	0	17595	1768	61	3	941	3	ZCWPW2	3	28566019	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	111333	28566019	169456411	1579	25530											
TGFBR2	7048	broad.mit.edu	37	chr3	30691806	30691806	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actagagacagtttgccatgAccccaagctcccctaccatg	7	15	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:30691806A>G	uc003ceo.2	+	3	690	c.308A>G	c.(307-309)GAC>GGC	p.D103G	TGFBR2_uc003cen.2_Missense_Mutation_p.D128G	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	103	Extracellular (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						GTTTGCCATGACCCCAAGCTC	0.433													G	30691806	A	G	30691806	3	3	27	1	0	0	0	0	1	0	0	0	15819	275	10	3	397	3	TGFBR2	3	30691806	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2125787	30691806	167330624	1580	25531											
TGFBR2	7048	broad.mit.edu	37	chr3	30713436	30713436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccctggtggggaaaggtcGctttgctgaggtctataagg	15	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:30713436G>A	uc003ceo.2	+	4	1143	c.761G>A	c.(760-762)CGC>CAC	p.R254H	TGFBR2_uc003cen.2_Missense_Mutation_p.R279H	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	254	Protein kinase.|Cytoplasmic (Potential).|ATP (By similarity).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						GGGAAAGGTCGCTTTGCTGAG	0.522													A	30713436	G	A	30713436	3	1	27	1	0	0	0	0	1	0	0	0	15819	1087	38	1	854	1	TGFBR2	3	30713436	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	21630	30713436	167308994	1581	25532											
STT3B	201595	broad.mit.edu	37	chr3	31621492	31621492	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttagctgcttgttttatTgctattgtaccaggctacat	7	8	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:31621492T>C	uc011axe.1	+	3	615	c.615T>C	c.(613-615)ATT>ATC	p.I205I	STT3B_uc010hft.1_Silent_p.I205I|STT3B_uc003cer.1_Silent_p.I205I	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	source of immunodominant MHC-associated	205	Helical; (Potential).				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding				0						CTTGTTTTATTGCTATTGTAC	0.398													C	31621492	T	C	31621492	2	2	27	1	0	0	0	0	0	0	0	1	15333	1800	63	3		3	STT3B	3	31621492	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	908056	31621492	166400938	1582	25533											
OSBPL10	114884	broad.mit.edu	37	chr3	31710251	31710251	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaactctaaagtaccaTtccattccccatgggcttta	7	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:31710251T>C	uc003cev.2	-	11	2360	c.1979A>G	c.(1978-1980)AAT>AGT	p.N660S	OSBPL10_uc003ceu.1_Missense_Mutation_p.N417S|OSBPL10_uc011axf.1_Missense_Mutation_p.N596S	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	660					lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)		TAAAGTACCATTCCATTCCCC	0.438													C	31710251	T	C	31710251	3	2	27	1	0	0	0	0	1	0	0	0	11275	1493	52	3	327	3	OSBPL10	3	31710251	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	88759	31710251	166312179	1583	25534											
CMTM7	112616	broad.mit.edu	37	chr3	32483359	32483359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgattgccttcatctgtGtgcggagctccctgtggacc	12	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:32483359G>A	uc003cey.1	+	2	423	c.187G>A	c.(187-189)GTG>ATG	p.V63M	CMTM7_uc003cez.1_Missense_Mutation_p.V63M	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing	63	MARVEL.|Helical; (Potential).				chemotaxis	extracellular space|integral to membrane	cytokine activity				0						CTTCATCTGTGTGCGGAGCTC	0.507													A	32483359	G	A	32483359	3	1	27	1	0	0	0	0	1	0	0	0	3588	1377	48	4	193	4	CMTM7	3	32483359	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	773108	32483359	165539071	1584	25535											
CMTM7	112616	broad.mit.edu	37	chr3	32483389	32483389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtggaccaactacagcGcctacagctactttgaagtg	9	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:32483389G>A	uc003cey.1	+	2	453	c.217G>A	c.(217-219)GCC>ACC	p.A73T	CMTM7_uc003cez.1_Missense_Mutation_p.A73T	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing	73	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0						CAACTACAGCGCCTACAGCTA	0.512													A	32483389	G	A	32483389	3	1	27	1	0	0	0	0	1	0	0	0	3588	1087	38	1	223	1	CMTM7	3	32483389	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	30	32483389	165539041	1585	25536											
CMTM7	112616	broad.mit.edu	37	chr3	32493939	32493939	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcatatggctgtcctataAgatctcgtgtgtaacccagt	9	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:32493939A>C	uc003cey.1	+	4	724	c.488A>C	c.(487-489)AAG>ACG	p.K163T	CMTM7_uc003cez.1_Missense_Mutation_p.K130T	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing	163	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0						CTGTCCTATAAGATCTCGTGT	0.512													C	32493939	A	C	32493939	3	2	27	1	0	0	0	0	1	0	0	0	3588	72	3	5	502	5	CMTM7	3	32493939	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	10550	32493939	165528491	1586	25537											
CNOT10	25904	broad.mit.edu	37	chr3	32769230	32769230	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgagttgctgtataactgTggaattcagcttcttcacat	8	7	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:32769230T>C	uc003cfc.1	+	10	1338	c.1083T>C	c.(1081-1083)TGT>TGC	p.C361C	CNOT10_uc011axi.1_Silent_p.C133C|CNOT10_uc003cfd.1_Silent_p.C360C|CNOT10_uc003cfe.1_Silent_p.C361C|CNOT10_uc010hfv.1_RNA|CNOT10_uc011axj.1_Silent_p.C421C|CNOT10_uc010hfw.1_Silent_p.C56C	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	361					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			central_nervous_system(1)|skin(1)	2						TGTATAACTGTGGAATTCAGC	0.398													C	32769230	T	C	32769230	2	2	27	1	0	0	0	0	0	0	0	1	3618	1702	59	3		3	CNOT10	3	32769230	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	275291	32769230	165253200	1587	25538											
CNOT10	25904	broad.mit.edu	37	chr3	32804346	32804346	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggatctcttcaaatgagCaggaccaaggttaatgagga	12	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:32804346C>T	uc003cfc.1	+	15	2086	c.1831C>T	c.(1831-1833)CAG>TAG	p.Q611*	CNOT10_uc011axi.1_Nonsense_Mutation_p.Q383*|CNOT10_uc003cfd.1_Nonsense_Mutation_p.Q610*|CNOT10_uc003cfe.1_Nonsense_Mutation_p.Q584*|CNOT10_uc010hfv.1_RNA|CNOT10_uc011axj.1_Nonsense_Mutation_p.Q671*|CNOT10_uc010hfw.1_Nonsense_Mutation_p.Q306*	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	611					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			central_nervous_system(1)|skin(1)	2						TTCAAATGAGCAGGACCAAGG	0.448													T	32804346	C	T	32804346	4	4	27	1	0	0	0	0	0	1	0	0	3618	711	25	2	1889	2	CNOT10	3	32804346	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	35116	32804346	165218084	1588	25539											
TRIM71	131405	broad.mit.edu	37	chr3	32859684	32859684	+	Missense_Mutation	SNP	A	A	T													cgtcgtcgtcctcctcgcagAcgtccacgtcgtcggggggc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:32859684A>T	uc003cff.2	+	1	175	c.112A>T	c.(112-114)ACG>TCG	p.T38S		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	38	RING-type.|Ser-rich.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						CTCCTCGCAGACGTCCACGTC	0.527													T	32859684	A	T	32859684	3	4	27	1	0	0	0	0	1	0	0	0	16541	275	10	5	114	5	TRIM71	3	32859684	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	55338	32859684	165162746	1589	25540	86	2									
TRIM71	131405	broad.mit.edu	37	chr3	32859686	32859686	+	Silent	SNP	G	G	A													tcgtcgtcctcctcgcagacGtccacgtcgtcggggggcgg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:32859686G>A	uc003cff.2	+	1	177	c.114G>A	c.(112-114)ACG>ACA	p.T38T		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	38	RING-type.|Ser-rich.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						CCTCGCAGACGTCCACGTCGT	0.527													A	32859686	G	A	32859686	2	1	27	1	0	0	0	0	0	0	0	1	16541	1132	40	1		1	TRIM71	3	32859686	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2	32859686	165162744	1590	25541	86	2									
GLB1	2720	broad.mit.edu	37	chr3	33093263	33093263	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttaccattccaataggcAaaattggtcccacctataaa	4	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:33093263A>G	uc003cfi.1	-	9	1059	c.942T>C	c.(940-942)TTT>TTC	p.F314F	GLB1_uc003cfh.1_Silent_p.F284F|GLB1_uc003cfj.1_Silent_p.F183F|GLB1_uc011axk.1_Silent_p.F362F	NM_000404	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1 isoform a preproprotein	314					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			large_intestine(1)	1		Melanoma(143;0.104)				TCCAATAGGCAAAATTGGTCC	0.428													G	33093263	A	G	33093263	2	3	27	1	0	0	0	0	0	0	0	1	6427	127	5	3		3	GLB1	3	33093263	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	233577	33093263	164929167	1591	25542											
FBXL2	25827	broad.mit.edu	37	chr3	33425581	33425581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtactggagttggacaactGcctcctcatcactgatgtgg	12	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:33425581G>A	uc003cfp.2	+	14	1123	c.1052G>A	c.(1051-1053)TGC>TAC	p.C351Y	FBXL2_uc011axm.1_RNA|FBXL2_uc011axn.1_RNA|FBXL2_uc011axo.1_Missense_Mutation_p.C246Y|FBXL2_uc011axp.1_Missense_Mutation_p.C267Y|FBXL2_uc011axq.1_RNA|FBXL2_uc011axr.1_RNA|FBXL2_uc011axs.1_RNA	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	351	LRR 12.				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			large_intestine(1)	1						TTGGACAACTGCCTCCTCATC	0.587													A	33425581	G	A	33425581	3	1	27	1	0	0	0	0	1	0	0	0	5716	1319	46	2	1106	2	FBXL2	3	33425581	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	332318	33425581	164596849	1592	25543											
CLASP2	23122	broad.mit.edu	37	chr3	33725942	33725942	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatagccaatattgcagcatCtctcacctgtcaaagaattc	5	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:33725942C>T	uc003cfu.2	-	6	907	c.553G>A	c.(553-555)GAT>AAT	p.D185N	CLASP2_uc010hgb.2_RNA	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	CLIP-associating protein 2	185										ovary(3)|central_nervous_system(1)	4						ATTGCAGCATCTCTCACCTGT	0.343													T	33725942	C	T	33725942	3	4	27	1	0	0	0	0	1	0	0	0	3455	913	32	4	4099	4	CLASP2	3	33725942	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	300361	33725942	164296488	1593	25544											
PDCD6IP	10015	broad.mit.edu	37	chr3	33866819	33866819	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctcaagaagtattttttttAaaagccacaagaggtaactc	7	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:33866819A>T	uc003cfx.2	+	5	758	c.603A>T	c.(601-603)TTA>TTT	p.L201F	PDCD6IP_uc011axv.1_Missense_Mutation_p.L201F|PDCD6IP_uc003cfy.2_Missense_Mutation_p.L201F	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	201	Interaction with EIAV p9.|Interaction with CHMP4A, CHMP4B and CHMP4C.|BRO1.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2						TATTTTTTTTAAAAGCCACAA	0.358													T	33866819	A	T	33866819	3	4	27	1	0	0	0	0	1	0	0	0	11624	359	13	5	621	5	PDCD6IP	3	33866819	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	140877	33866819	164155611	1594	25545											
PDCD6IP	10015	broad.mit.edu	37	chr3	33905536	33905536	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccagagaacctagtgctcCttcaattcctacacctgcgt	7	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:33905536C>A	uc003cfx.2	+	16	2314	c.2159C>A	c.(2158-2160)CCT>CAT	p.P720H	PDCD6IP_uc003cfy.2_Missense_Mutation_p.P725H|PDCD6IP_uc011axw.1_Missense_Mutation_p.P501H	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	720	Pro-rich.|Interaction with EIAV p9.|Interaction with TSG101.|Self-association.			P->L: Abolishes interaction with TSG101; no effect on rescue of PTAP-type L domain-deficient HIV-1 p6.	apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2						CCTAGTGCTCCTTCAATTCCT	0.299													A	33905536	C	A	33905536	3	1	27	1	0	0	0	0	1	0	0	0	11624	681	24	5	2236	5	PDCD6IP	3	33905536	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	38717	33905536	164116894	1595	25546											
ARPP21	10777	broad.mit.edu	37	chr3	35780864	35780864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgagccggcagtcctcggGggagactcctgaacccccat	12	16	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:35780864G>A	uc003cgb.2	+	17	1964	c.1700G>A	c.(1699-1701)GGG>GAG	p.G567E	ARPP21_uc003cga.2_Missense_Mutation_p.G548E|ARPP21_uc011axy.1_Missense_Mutation_p.G568E|ARPP21_uc003cgf.2_Missense_Mutation_p.G403E|ARPP21_uc003cgg.2_Missense_Mutation_p.G90E	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	567	Gln-rich.					cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						CAGTCCTCGGGGGAGACTCCT	0.562													A	35780864	G	A	35780864	3	1	27	1	0	0	0	0	1	0	0	0	978	1232	43	4	1771	4	ARPP21	3	35780864	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1875328	35780864	162241566	1596	25547											
STAC	6769	broad.mit.edu	37	chr3	36422210	36422210	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtgggcgccgagcaaccGccctctcctgcatccaccag	12	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:36422210G>A	uc003cgh.1	+	1	114	c.75G>A	c.(73-75)CCG>CCA	p.P25P	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Silent_p.P25P	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	25					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						CCGAGCAACCGCCCTCTCCTG	0.667													A	36422210	G	A	36422210	2	1	27	1	0	0	0	0	0	0	0	1	15238	1074	38	1		1	STAC	3	36422210	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	641346	36422210	161600220	1597	25548											
STAC	6769	broad.mit.edu	37	chr3	36547271	36547271	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagacccattacagatgaacAcctatgttgccttgtacaaa	6	10	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:36547271A>G	uc003cgh.1	+	8	904	c.865A>G	c.(865-867)ACC>GCC	p.T289A	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.T228A	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	289	SH3.				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						ACAGATGAACACCTATGTTGC	0.229													G	36547271	A	G	36547271	3	3	27	1	0	0	0	0	1	0	0	0	15238	159	6	3	895	3	STAC	3	36547271	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	125061	36547271	161475159	1598	25549											
DCLK3	85443	broad.mit.edu	37	chr3	36779103	36779103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataatgcttttccacattggCggcaatgatgcccatgggcc	10	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:36779103C>T	uc003cgi.2	-	2	1539	c.1048G>A	c.(1048-1050)GCC>ACC	p.A350T		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	350						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						TCCACATTGGCGGCAATGATG	0.587													T	36779103	C	T	36779103	3	4	27	1	0	0	0	0	1	0	0	0	4293	768	27	1	914	1	DCLK3	3	36779103	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	231832	36779103	161243327	1599	25550											
TRANK1	9881	broad.mit.edu	37	chr3	36872603	36872603	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctctggtggtgttctAgatggatatgctgctcgtaa	13	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:36872603A>G	uc003cgj.2	-	12	6991	c.6689T>C	c.(6688-6690)CTA>CCA	p.L2230P		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2780					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						GTGGTGTTCTAGATGGATATG	0.557													G	36872603	A	G	36872603	3	3	27	1	0	0	0	0	1	0	0	0	16451	420	15	3	450	3	TRANK1	3	36872603	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	93500	36872603	161149827	1600	25551											
TRANK1	9881	broad.mit.edu	37	chr3	36873305	36873305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccttgactcaatctccCggaagtggcgatacaggaga	12	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:36873305C>T	uc003cgj.2	-	12	6289	c.5987G>A	c.(5986-5988)CGG>CAG	p.R1996Q		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2546					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						CTCAATCTCCCGGAAGTGGCG	0.582													T	36873305	C	T	36873305	3	4	27	1	0	0	0	0	1	0	0	0	16451	652	23	1	1152	1	TRANK1	3	36873305	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	702	36873305	161149125	1601	25552											
TRANK1	9881	broad.mit.edu	37	chr3	36893684	36893684	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttttccttttattccctcGtagcaaaattgccaagtcgc	6	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:36893684G>A	uc003cgj.2	-	4	3222	c.2920C>T	c.(2920-2922)CGA>TGA	p.R974*		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1524					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TTATTCCCTCGTAGCAAAATT	0.423													A	36893684	G	A	36893684	4	1	27	1	0	0	0	0	0	1	0	0	16451	1153	40	1	4251	1	TRANK1	3	36893684	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	20379	36893684	161128746	1602	25553											
EPM2AIP1	9852	broad.mit.edu	37	chr3	37034495	37034495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggctccaccaccaaataaCgctgggtccactcgggccgg	12	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:37034495C>T	uc003cgk.2	-	1	301	c.74G>A	c.(73-75)CGT>CAT	p.R25H	MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN	EPM2A interacting protein 1	25						endoplasmic reticulum					0						CACCAAATAACGCTGGGTCCA	0.632													T	37034495	C	T	37034495	3	4	27	1	0	0	0	0	1	0	0	0	5184	536	19	1	1753	1	EPM2AIP1	3	37034495	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	140811	37034495	160987935	1603	25554											
LRRFIP2	9209	broad.mit.edu	37	chr3	37095362	37095362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactgctgggccagaagtgCtgtcctattggccttcatct	10	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:37095362C>T	uc003cgp.2	-	29	2569	c.2146G>A	c.(2146-2148)GCA>ACA	p.A716T	MLH1_uc011aye.1_Intron|LRRFIP2_uc011ayf.1_Missense_Mutation_p.A498T|LRRFIP2_uc003cgr.2_Missense_Mutation_p.A419T|LRRFIP2_uc003cgs.3_Missense_Mutation_p.A419T|LRRFIP2_uc003cgt.3_Missense_Mutation_p.A395T	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting	716					Wnt receptor signaling pathway		LRR domain binding			ovary(1)	1						GCCAGAAGTGCTGTCCTATTG	0.542													T	37095362	C	T	37095362	3	4	27	1	0	0	0	0	1	0	0	0	9028	797	28	2	23	2	LRRFIP2	3	37095362	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	60867	37095362	160927068	1604	25555											
LRRFIP2	9209	broad.mit.edu	37	chr3	37107356	37107356	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcttcctgagacacaacAgtgatggctccagccactgg	11	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:37107356A>G	uc003cgp.2	-	24	2067	c.1644T>C	c.(1642-1644)ACT>ACC	p.T548T	MLH1_uc011aye.1_3'UTR|LRRFIP2_uc011ayf.1_Silent_p.T330T|LRRFIP2_uc003cgr.2_Silent_p.T251T|LRRFIP2_uc003cgs.3_Silent_p.T251T|LRRFIP2_uc003cgt.3_Silent_p.T227T	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting	548					Wnt receptor signaling pathway		LRR domain binding			ovary(1)	1						GAGACACAACAGTGATGGCTC	0.488													G	37107356	A	G	37107356	2	3	27	1	0	0	0	0	0	0	0	1	9028	175	7	3		3	LRRFIP2	3	37107356	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	11994	37107356	160915074	1605	25556											
GOLGA4	2803	broad.mit.edu	37	chr3	37365710	37365710	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaagagcatcaggctcAtgtagaaaatttagaggcag	11	5	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:37365710A>C	uc003cgv.2	+	14	2637	c.2333A>C	c.(2332-2334)CAT>CCT	p.H778P	GOLGA4_uc010hgr.1_Missense_Mutation_p.H339P|GOLGA4_uc003cgw.2_Missense_Mutation_p.H800P|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.H659P	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	778	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						CATCAGGCTCATGTAGAAAAT	0.418													C	37365710	A	C	37365710	3	2	27	1	0	0	0	0	1	0	0	0	6555	217	8	5	2457	5	GOLGA4	3	37365710	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	258354	37365710	160656720	1606	25557											
ITGA9	3680	broad.mit.edu	37	chr3	37826552	37826552	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggaaatagctcatgggAacccagaagaggtgacggtg	16	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:37826552A>G	uc003chd.2	+	26	2925	c.2872A>G	c.(2872-2874)AAC>GAC	p.N958D		NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	958	Extracellular (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AGCTCATGGGAACCCAGAAGA	0.572													G	37826552	A	G	37826552	3	3	27	1	0	0	0	0	1	0	0	0	7883	246	9	3	2974	3	ITGA9	3	37826552	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	460842	37826552	160195878	1607	25558											
ITGA9	3680	broad.mit.edu	37	chr3	37845374	37845374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtcgtggggtggatcatcGccatcagtttgttggtggga	16	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:37845374G>A	uc003chd.2	+	27	3003	c.2950G>A	c.(2950-2952)GCC>ACC	p.A984T		NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	984	Helical; (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GTGGATCATCGCCATCAGTTT	0.552													A	37845374	G	A	37845374	3	1	27	1	0	0	0	0	1	0	0	0	7883	1087	38	1	3056	1	ITGA9	3	37845374	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	18822	37845374	160177056	1608	25559											
VILL	50853	broad.mit.edu	37	chr3	38042991	38042991	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcagcccgtggaccccaaGcgtcatggacagctgtgtgc	14	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:38042991G>T	uc003chj.2	+	12	1513	c.1227G>T	c.(1225-1227)AAG>AAT	p.K409N	VILL_uc003chl.2_Missense_Mutation_p.K409N|VILL_uc010hgu.2_Missense_Mutation_p.K239N	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	409	Gelsolin-like 4.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGACCCCAAGCGTCATGGAC	0.592													T	38042991	G	T	38042991	3	4	27	1	0	0	0	0	1	0	0	0	17162	962	34	5	1269	5	VILL	3	38042991	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	197617	38042991	159979439	1609	25560											
DLEC1	9940	broad.mit.edu	37	chr3	38080868	38080868	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgtattcctccctcgcctActctgaggccttccactaca	5	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:38080868A>G	uc003cho.1	+	1	173	c.152A>G	c.(151-153)TAC>TGC	p.Y51C	DLEC1_uc003chp.1_Missense_Mutation_p.Y51C|DLEC1_uc010hgv.1_Missense_Mutation_p.Y51C	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	51					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TCCCTCGCCTACTCTGAGGCC	0.687													G	38080868	A	G	38080868	3	3	27	1	0	0	0	0	1	0	0	0	4552	391	14	3	154	3	DLEC1	3	38080868	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	37877	38080868	159941562	1610	25561											
DLEC1	9940	broad.mit.edu	37	chr3	38153716	38153716	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagattttatggagagcaTgctatcccacgggaaaggag	12	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:38153716T>C	uc003cho.1	+	25	3551	c.3530T>C	c.(3529-3531)ATG>ACG	p.M1177T	DLEC1_uc003chp.1_Missense_Mutation_p.M1177T|DLEC1_uc010hgv.1_Missense_Mutation_p.M1180T|DLEC1_uc003chr.1_Intron|DLEC1_uc010hgx.1_RNA	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1177					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATGGAGAGCATGCTATCCCAC	0.567													C	38153716	T	C	38153716	3	2	27	1	0	0	0	0	1	0	0	0	4552	1464	51	3	3628	3	DLEC1	3	38153716	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	72848	38153716	159868714	1611	25562											
DLEC1	9940	broad.mit.edu	37	chr3	38158779	38158779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactggacctgcatagctaCgtgaggcctgcacagtgagt	12	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:38158779C>T	uc003cho.1	+	31	4407	c.4386C>T	c.(4384-4386)TAC>TAT	p.Y1462Y	DLEC1_uc003chp.1_Silent_p.Y1462Y|DLEC1_uc010hgv.1_Silent_p.Y1465Y|DLEC1_uc003chr.1_Silent_p.Y533Y|DLEC1_uc010hgx.1_RNA|DLEC1_uc003chs.1_Translation_Start_Site	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1462					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TGCATAGCTACGTGAGGCCTG	0.602													T	38158779	C	T	38158779	2	4	27	1	0	0	0	0	0	0	0	1	4552	547	19	1		1	DLEC1	3	38158779	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5063	38158779	159863651	1612	25563											
ACAA1	30	broad.mit.edu	37	chr3	38173487	38173487	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggacaaaggcacagtctcCgggatgtcactgaaacagaa	12	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:38173487C>T	uc003cht.2	-	4	540	c.333G>A	c.(331-333)CCG>CCA	p.P111P	ACAA1_uc003chu.2_Silent_p.P111P|ACAA1_uc010hgy.2_Intron|ACAA1_uc010hgz.2_Silent_p.P111P|ACAA1_uc003chv.2_5'UTR	NM_001607	NP_001598	P09110	THIK_HUMAN	acetyl-Coenzyme A acyltransferase 1 isoform a	111					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GCACAGTCTCCGGGATGTCAC	0.532											OREG0015477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	38173487	C	T	38173487	2	4	27	1	0	0	0	0	0	0	0	1	104	639	23	1		1	ACAA1	3	38173487	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	14708	38173487	159848943	1613	25564											
OXSR1	9943	broad.mit.edu	37	chr3	38292940	38292940	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcatttctgctggcctggtCgacggaagggatttagtaat	12	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:38292940C>T	uc003chy.2	+	16	1764	c.1422C>T	c.(1420-1422)GTC>GTT	p.V474V	OXSR1_uc010hhb.2_Silent_p.V408V	NM_005109	NP_005100	O95747	OXSR1_HUMAN	oxidative-stress responsive 1	474					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTGGCCTGGTCGACGGAAGGG	0.448													T	38292940	C	T	38292940	2	4	27	1	0	0	0	0	0	0	0	1	11336	871	31	1		1	OXSR1	3	38292940	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	119453	38292940	159729490	1614	25565											
XYLB	9942	broad.mit.edu	37	chr3	38415972	38415972	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcgctggcaggcatgagActggaggaaggtgacattgc	17	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:38415972A>T	uc003cic.2	+	11	976	c.867A>T	c.(865-867)AGA>AGT	p.R289S	XYLB_uc011ayp.1_Missense_Mutation_p.R152S|XYLB_uc003cid.1_Missense_Mutation_p.R211S	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	289					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CAGGCATGAGACTGGAGGAAG	0.572													T	38415972	A	T	38415972	3	4	27	1	0	0	0	0	1	0	0	0	17459	272	10	5	909	5	XYLB	3	38415972	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	123032	38415972	159606458	1615	25566											
ACVR2B	93	broad.mit.edu	37	chr3	38523762	38523762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagagatgccttcctgcGcattgacatgtatgccatgg	11	11	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:38523762G>A	uc003cif.2	+	9	1172	c.1148G>A	c.(1147-1149)CGC>CAC	p.R383H	ACVR2B_uc003cig.2_Missense_Mutation_p.R174H	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	383	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GCCTTCCTGCGCATTGACATG	0.572													A	38523762	G	A	38523762	3	1	27	1	0	0	0	0	1	0	0	0	224	1087	38	1	1182	1	ACVR2B	3	38523762	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	107790	38523762	159498668	1616	25567											
SCN5A	6331	broad.mit.edu	37	chr3	38591817	38591817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccaggccgaggctcacaCgatggactcacggtccctgt	12	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:38591817C>T	uc003cio.2	-	28	6240	c.6046G>A	c.(6046-6048)GTG>ATG	p.V2016M	SCN5A_uc003cin.2_Missense_Mutation_p.V2015M|SCN5A_uc003cil.3_Missense_Mutation_p.V2016M|SCN5A_uc010hhi.2_Missense_Mutation_p.V1998M|SCN5A_uc010hhk.2_Missense_Mutation_p.V1983M|SCN5A_uc011ayr.1_Missense_Mutation_p.V1962M	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	2016					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GAGGCTCACACGATGGACTCA	0.592													T	38591817	C	T	38591817	3	4	27	1	0	0	0	0	1	0	0	0	13922	536	19	1	8	1	SCN5A	3	38591817	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	68055	38591817	159430613	1617	25568											
SCN5A	6331	broad.mit.edu	37	chr3	38596019	38596019	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttggtcacaatgtcgaAtatgaagccctggtacttgt	10	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:38596019A>T	uc003cio.2	-	27	4758	c.4564T>A	c.(4564-4566)TTC>ATC	p.F1522I	SCN5A_uc003cin.2_Missense_Mutation_p.F1521I|SCN5A_uc003cil.3_Missense_Mutation_p.F1522I|SCN5A_uc010hhi.2_Missense_Mutation_p.F1504I|SCN5A_uc010hhk.2_Missense_Mutation_p.F1521I|SCN5A_uc011ayr.1_Missense_Mutation_p.F1468I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1522					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ACAATGTCGAATATGAAGCCC	0.507													T	38596019	A	T	38596019	3	4	27	1	0	0	0	0	1	0	0	0	13922	101	4	5	1494	5	SCN5A	3	38596019	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4202	38596019	159426411	1618	25569											
SCN5A	6331	broad.mit.edu	37	chr3	38649682	38649682	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacagtaacacatcagaggTgccgttcttgagcaggtaat	10	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:38649682T>C	uc003cio.2	-	8	1152	c.958A>G	c.(958-960)ACC>GCC	p.T320A	SCN5A_uc003cin.2_Missense_Mutation_p.T320A|SCN5A_uc003cil.3_Missense_Mutation_p.T320A|SCN5A_uc010hhi.2_Missense_Mutation_p.T320A|SCN5A_uc010hhk.2_Missense_Mutation_p.T320A|SCN5A_uc011ayr.1_Missense_Mutation_p.T320A|SCN5A_uc010hhj.1_5'Flank	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	320					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ACATCAGAGGTGCCGTTCTTG	0.557													C	38649682	T	C	38649682	3	2	27	1	0	0	0	0	1	0	0	0	13922	1696	59	3	5176	3	SCN5A	3	38649682	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	53663	38649682	159372748	1619	25570											
SCN10A	6336	broad.mit.edu	37	chr3	38753796	38753796	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtacaagggaaaactctccAtcggtatagttgatgcacct	10	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:38753796A>G	uc003ciq.2	-	22	3945	c.3945T>C	c.(3943-3945)GAT>GAC	p.D1315D		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1315	III.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AAAACTCTCCATCGGTATAGT	0.463													G	38753796	A	G	38753796	2	3	27	1	0	0	0	0	0	0	0	1	13912	214	8	3		3	SCN10A	3	38753796	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	104114	38753796	159268634	1620	25571											
SCN10A	6336	broad.mit.edu	37	chr3	38798267	38798267	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgctcctcatacgccatggtGactacagccaagatcaagtt	8	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:38798267G>C	uc003ciq.2	-	9	1188	c.1188C>G	c.(1186-1188)GTC>GTG	p.V396V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	396	Helical; Name=S6 of repeat I; (Potential).|I.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACGCCATGGTGACTACAGCCA	0.488													C	38798267	G	C	38798267	2	2	27	1	0	0	0	0	0	0	0	1	13912	1277	45	5		5	SCN10A	3	38798267	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	44471	38798267	159224163	1621	25572											
SCN11A	11280	broad.mit.edu	37	chr3	38908837	38908837	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgttggttgaagttgTcaatgataacgccaatgaag	11	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:38908837T>A	uc011ays.1	-	23	4125	c.3926A>T	c.(3925-3927)GAC>GTC	p.D1309V		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1309	III.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GTTGAAGTTGTCAATGATAAC	0.368													A	38908837	T	A	38908837	3	1	27	1	0	0	0	0	1	0	0	0	13913	1667	58	5	1465	5	SCN11A	3	38908837	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	110570	38908837	159113593	1622	25573											
SCN11A	11280	broad.mit.edu	37	chr3	38913112	38913112	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaaaagaagtatactcccaGaatacaaaatacgagccaga	7	8	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:38913112G>T	uc011ays.1	-	21	3782	c.3583C>A	c.(3583-3585)CTG>ATG	p.L1195M		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1195	Helical; Name=S5 of repeat III; (By similarity).|III.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TATACTCCCAGAATACAAAAT	0.363													T	38913112	G	T	38913112	3	4	27	1	0	0	0	0	1	0	0	0	13913	933	33	5	1816	5	SCN11A	3	38913112	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4275	38913112	159109318	1623	25574											
GORASP1	64689	broad.mit.edu	37	chr3	39144266	39144266	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccacatgttgctgggcaccAcctccacctcgcgcaccctc	7	21	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:39144266A>G	uc003ciw.1	-	3	349	c.251T>C	c.(250-252)GTG>GCG	p.V84A	GORASP1_uc003civ.1_RNA|GORASP1_uc003cix.1_RNA|GORASP1_uc003ciy.1_RNA|GORASP1_uc011ayw.1_Intron|GORASP1_uc003ciz.1_Intron	NM_031899	NP_114105	Q9BQQ3	GORS1_HUMAN	Golgi reassembly stacking protein 1	84					mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane				ovary(2)|central_nervous_system(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GCTGGGCACCACCTCCACCTC	0.602													G	39144266	A	G	39144266	3	3	27	1	0	0	0	0	1	0	0	0	6575	159	6	3	1099	3	GORASP1	3	39144266	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	231154	39144266	158878164	1624	25575											
TTC21A	199223	broad.mit.edu	37	chr3	39162487	39162488	+	Splice_Site	DEL	GT	GT	-													ccaccttcctgtttcttgcaGtgtgggagtcaccaggtgat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:39162486_39162487AGT>A	uc003cjc.2	+	9	1102	c.925_splice	c.e9-1	p.C309_splice	TTC21A_uc011ayx.1_Splice_Site_p.C260_splice|TTC21A_uc003cjd.2_Splice_Site	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	309							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGTTTCTTGCAGTGTGGGAGTC	0.545													-	39162488	GT	-	39162487	8	5	27	1	0	1	0	1	0	0	1	0	16684	1043	36	0	958	0	TTC21A	3	39162487	Splice_Site	DEL	GT	TCGA-BR-6452-01A-12D-1800-08	18221	39162487	158859943	1625	25576											
XIRP1	165904	broad.mit.edu	37	chr3	39228564	39228564	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctggccctcgggcctccatGaggatgcctccatggtgcag	13	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:39228564G>A	uc003cjk.1	-	2	2594	c.2373C>T	c.(2371-2373)CTC>CTT	p.L791L	XIRP1_uc003cji.2_Silent_p.L791L|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	791							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGGCCTCCATGAGGATGCCTC	0.617													A	39228564	G	A	39228564	2	1	27	1	0	0	0	0	0	0	0	1	17426	1277	45	4		4	XIRP1	3	39228564	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	66077	39228564	158793866	1626	25577											
XIRP1	165904	broad.mit.edu	37	chr3	39230227	39230227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatggcacacaggggctccGtttggaagagcttcactgtc	14	10	1	1	rs35083720		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:39230227G>A	uc003cjk.1	-	2	931	c.710C>T	c.(709-711)ACG>ATG	p.T237M	XIRP1_uc003cji.2_Missense_Mutation_p.T237M|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	237	Xin 5.						actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAGGGGCTCCGTTTGGAAGAG	0.622													A	39230227	G	A	39230227	3	1	27	1	0	0	0	0	1	0	0	0	17426	1145	40	1	4825	1	XIRP1	3	39230227	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1663	39230227	158792203	1627	25578											
XIRP1	165904	broad.mit.edu	37	chr3	39230238	39230238	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggggctccgtttggaagagCttcactgtctttttcacatc	10	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:39230238C>A	uc003cjk.1	-	2	920	c.699G>T	c.(697-699)AAG>AAT	p.K233N	XIRP1_uc003cji.2_Missense_Mutation_p.K233N|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	233	Xin 5.						actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTTGGAAGAGCTTCACTGTCT	0.617													A	39230238	C	A	39230238	3	1	27	1	0	0	0	0	1	0	0	0	17426	796	28	5	4836	5	XIRP1	3	39230238	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	11	39230238	158792192	1628	25579											
CX3CR1	1524	broad.mit.edu	37	chr3	39307504	39307504	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctttctgctttgtgaacAtgaactggggtgctgccacc	10	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:39307504A>G	uc003cjl.2	-	2	589	c.497T>C	c.(496-498)ATG>ACG	p.M166T		NM_001337	NP_001328	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	166	Helical; Name=4; (Potential).				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			lung(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CTTTGTGAACATGAACTGGGG	0.552													G	39307504	A	G	39307504	3	3	27	1	0	0	0	0	1	0	0	0	4075	217	8	3	574	3	CX3CR1	3	39307504	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	77266	39307504	158714926	1629	25580											
SLC25A38	54977	broad.mit.edu	37	chr3	39433000	39433000	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tactctttgaagcagtatttCttgcgaggccatcccccaac	7	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:39433000C>T	uc003cjo.2	+	4	746	c.345C>T	c.(343-345)TTC>TTT	p.F115F		NM_017875	NP_060345	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	115					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGCAGTATTTCTTGCGAGGCC	0.512													T	39433000	C	T	39433000	2	4	27	1	0	0	0	0	0	0	0	1	14502	912	32	4		4	SLC25A38	3	39433000	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	125496	39433000	158589430	1630	25581											
ENTPD3	956	broad.mit.edu	37	chr3	40456320	40456320	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccaactatttaatgggaAatttcctggaggtgtgtgca	11	7	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:40456320A>G	uc003ckd.3	+	6	678	c.586A>G	c.(586-588)AAT>GAT	p.N196D	ENTPD3_uc010hhy.2_Missense_Mutation_p.N196D|uc003cke.3_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase	196	Extracellular (Potential).					integral to membrane	ATP binding|hydrolase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TTTAATGGGAAATTTCCTGGA	0.428													G	40456320	A	G	40456320	3	3	27	1	0	0	0	0	1	0	0	0	5140	14	1	3	604	3	ENTPD3	3	40456320	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1023320	40456320	157566110	1631	25582											
CTNNB1	1499	broad.mit.edu	37	chr3	41266654	41266654	+	Frame_Shift_Del	DEL	C	C	-													atgatgcagaacttgccacaCgtgcaatccctgaactgaca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:41266653_41266653AC>A	uc010hia.1	+	4	606	c.450_450AC>A	c.(448-450)acafs	p.T150fs	CTNNB1_uc003ckq.2_Frame_Shift_Del_p.T150fs|CTNNB1_uc003ckp.2_Frame_Shift_Del_p.T150fs|CTNNB1_uc003ckr.2_Frame_Shift_Del_p.T150fs|CTNNB1_uc011azf.1_Frame_Shift_Del_p.T143fs|CTNNB1_uc011azg.1_Frame_Shift_Del_p.T78fs|AK311005_uc010hib.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	150					Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.M1_V173del(2)|p.I35_K170del(2)|p.A13_R151del(2)|p.A20_R151del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	AACTTGCCACACGTGCAATCC	0.433		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				-	41266654	C	-	41266654	7	5	27	1	0	1	0	1	0	0	0	0	4016	536	19	0	461	0	CTNNB1	3	41266654	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	810334	41266654	156755776	1632	25583											
ULK4	54986	broad.mit.edu	37	chr3	41607557	41607557	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattcgaatctttgcaggcaActagattgctgagtaatgca	9	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:41607557A>G	uc003ckv.3	-	32	3386	c.3185T>C	c.(3184-3186)GTT>GCT	p.V1062A		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	1062	HEAT 3.						ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TTTGCAGGCAACTAGATTGCT	0.348													G	41607557	A	G	41607557	3	3	27	1	0	0	0	0	1	0	0	0	16975	43	2	3	666	3	ULK4	3	41607557	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	340903	41607557	156414873	1633	25584											
TRAK1	22906	broad.mit.edu	37	chr3	42242337	42242337	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcgtgtctttgagacagtAagaaacatcaaccaggttgt	10	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:42242337A>G	uc003cky.2	+	12	1434	c.1218A>G	c.(1216-1218)GTA>GTG	p.V406V	TRAK1_uc011azh.1_Silent_p.V406V|TRAK1_uc011azi.1_Silent_p.V406V|TRAK1_uc003ckz.3_Silent_p.V332V|TRAK1_uc011azj.1_Silent_p.V332V|TRAK1_uc003cla.2_Silent_p.V348V	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	406	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						TTGAGACAGTAAGAAACATCA	0.527													G	42242337	A	G	42242337	2	3	27	1	0	0	0	0	0	0	0	1	16446	349	13	3		3	TRAK1	3	42242337	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	634780	42242337	155780093	1634	25585											
VIPR1	7433	broad.mit.edu	37	chr3	42576474	42576474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgtctccagaaggctaGccaggtccacactcctgctg	9	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:42576474G>A	uc003clf.2	+	11	1142	c.1018G>A	c.(1018-1020)GCC>ACC	p.A340T	VIPR1_uc011azl.1_Missense_Mutation_p.A292T|VIPR1_uc011azm.1_Missense_Mutation_p.A130T|VIPR1_uc011azn.1_Missense_Mutation_p.A313T|VIPR1_uc003clg.2_5'UTR	NM_004624	NP_004615	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	340	Cytoplasmic (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CAGAAGGCTAGCCAGGTCCAC	0.527													A	42576474	G	A	42576474	3	1	27	1	0	0	0	0	1	0	0	0	17166	971	34	2	1060	2	VIPR1	3	42576474	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	334137	42576474	155445956	1635	25586											
VIPR1	7433	broad.mit.edu	37	chr3	42577688	42577688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcagcaacggcgccacgtGcagcacgcaggtttccatgc	13	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:42577688G>A	uc003clf.2	+	13	1413	c.1289G>A	c.(1288-1290)TGC>TAC	p.C430Y	VIPR1_uc011azl.1_Missense_Mutation_p.C382Y|VIPR1_uc011azm.1_Missense_Mutation_p.C220Y|VIPR1_uc011azn.1_Missense_Mutation_p.C403Y|VIPR1_uc003clg.2_Missense_Mutation_p.C75Y	NM_004624	NP_004615	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	430	Cytoplasmic (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.241)		GGCGCCACGTGCAGCACGCAG	0.692													A	42577688	G	A	42577688	3	1	27	1	0	0	0	0	1	0	0	0	17166	1319	46	2	1339	2	VIPR1	3	42577688	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1214	42577688	155444742	1636	25587											
NKTR	4820	broad.mit.edu	37	chr3	42679032	42679032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtaataccactgagtgaCagtccccccccttcaagatg	7	15	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:42679032C>T	uc003clo.2	+	13	1983	c.1836C>T	c.(1834-1836)GAC>GAT	p.D612D	NKTR_uc003clm.1_Silent_p.D359D|NKTR_uc003clp.2_Silent_p.D359D|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Silent_p.D502D|NKTR_uc003clr.1_Silent_p.D359D|NKTR_uc003cls.2_Silent_p.D312D	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	612					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CACTGAGTGACAGTCCCCCCC	0.423													T	42679032	C	T	42679032	2	4	27	1	0	0	0	0	0	0	0	1	10448	477	17	4		4	NKTR	3	42679032	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	101344	42679032	155343398	1637	25588											
CYP8B1	1582	broad.mit.edu	37	chr3	42916705	42916705	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttgcggaactccatgaataActctcctgcctgtagcaggt	9	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:42916705A>T	uc003cmh.2	-	1	929	c.604T>A	c.(604-606)TTA>ATA	p.L202I	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.L202I	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B,	202					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TCCATGAATAACTCTCCTGCC	0.537													T	42916705	A	T	42916705	3	4	27	1	0	0	0	0	1	0	0	0	4198	40	2	5	905	5	CYP8B1	3	42916705	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	237673	42916705	155105725	1638	25589											
CYP8B1	1582	broad.mit.edu	37	chr3	42917312	42917312	+	Translation_Start_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaccccagagaaccatggcTatgctcctgcggattaagct	11	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:42917312T>C	uc003cmh.2	-	1	322	c.-3A>G	c.(-5--1)ATAGC>ATGGC		CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Translation_Start_Site	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B,						bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GAACCATGGCTATGCTCCTGC	0.592													C	42917312	T	C	42917312	1	2	27	1	0	0	0	0	0	0	0	0	4198	1537	53	3		3	CYP8B1	3	42917312	Translation_Start_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	607	42917312	155105118	1639	25590											
ZNF662	389114	broad.mit.edu	37	chr3	42956105	42956105	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcaataacctccttggTatacatcacaaaattctaaa	4	9	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:42956105T>C	uc003cmi.2	+	5	892	c.540T>C	c.(538-540)GGT>GGC	p.G180G	ZNF662_uc003cmk.2_Silent_p.G206G|ZNF662_uc003cmj.2_Silent_p.G72G	NM_207404	NP_997287	Q6ZS27	ZN662_HUMAN	zinc finger protein 662 isoform 1	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.217)		ACCTCCTTGGTATACATCACA	0.348													C	42956105	T	C	42956105	2	2	27	1	0	0	0	0	0	0	0	1	18068	1625	57	3		3	ZNF662	3	42956105	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	38793	42956105	155066325	1640	25591											
SNRK	54861	broad.mit.edu	37	chr3	43344905	43344905	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagatgcatgaaactagtGcagcatcctaacatcgtccg	10	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:43344905G>A	uc003cms.3	+	3	542	c.210G>A	c.(208-210)GTG>GTA	p.V70V	SNRK_uc003cmt.3_Silent_p.V70V|SNRK_uc010hik.2_Silent_p.V70V|SNRK_uc011azr.1_Intron|SNRK_uc003cmu.2_Silent_p.V70V	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	SNF related kinase	70	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TGAAACTAGTGCAGCATCCTA	0.403													A	43344905	G	A	43344905	2	1	27	1	0	0	0	0	0	0	0	1	14851	1306	46	2		2	SNRK	3	43344905	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	388800	43344905	154677525	1641	25592											
SNRK	54861	broad.mit.edu	37	chr3	43389110	43389110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagatgaagaggaagatgaGgaggacaagaaacccatgtc	14	5	0	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:43389110G>A	uc003cms.3	+	7	1691	c.1359G>A	c.(1357-1359)GAG>GAA	p.E453E	SNRK_uc003cmt.3_Silent_p.E453E|SNRK_uc010hik.2_Silent_p.E453E|SNRK_uc011azr.1_Silent_p.E247E	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	SNF related kinase	453					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		AGGAAGATGAGGAGGACAAGA	0.557													A	43389110	G	A	43389110	2	1	27	1	0	0	0	0	0	0	0	1	14851	991	35	4		4	SNRK	3	43389110	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	44205	43389110	154633320	1642	25593											
ZNF445	353274	broad.mit.edu	37	chr3	44492035	44492035	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccactcgtcctgggagaaggTcacctccacatccttgaaag	9	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:44492035T>A	uc003cnf.2	-	6	1072	c.724A>T	c.(724-726)ACC>TCC	p.T242S	ZNF445_uc011azv.1_Missense_Mutation_p.T230S|ZNF445_uc011azw.1_Missense_Mutation_p.T242S	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	242	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TGGGAGAAGGTCACCTCCACA	0.537													A	44492035	T	A	44492035	3	1	27	1	0	0	0	0	1	0	0	0	17915	1667	58	5	2383	5	ZNF445	3	44492035	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1102925	44492035	153530395	1643	25594											
ZNF197	10168	broad.mit.edu	37	chr3	44685375	44685375	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtcagaataaaaaccttgTtgtacatcagagaatgcaca	7	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:44685375T>G	uc003cnm.2	+	6	2959	c.2753T>G	c.(2752-2754)GTT>GGT	p.V918G	ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	918	C2H2-type 20.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AAAAACCTTGTTGTACATCAG	0.358													G	44685375	T	G	44685375	3	3	27	1	0	0	0	0	1	0	0	0	17756	1725	60	5	2771	5	ZNF197	3	44685375	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	193340	44685375	153337055	1644	25595											
ZNF35	7584	broad.mit.edu	37	chr3	44692631	44692631	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgaaaaaggaggaggaAgaagaagaaaacttcccagg	14	4	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:44692631A>G	uc003cnq.2	+	2	293	c.72A>G	c.(70-72)GAA>GAG	p.E24E	ZNF35_uc003cnr.2_5'UTR	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	24	Globular domain.|Poly-Glu.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		AGGAGGAGGAAGAAGAAGAAA	0.537													G	44692631	A	G	44692631	2	3	27	1	0	0	0	0	0	0	0	1	17859	69	3	3		3	ZNF35	3	44692631	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	7256	44692631	153329799	1645	25596											
ZNF35	7584	broad.mit.edu	37	chr3	44701410	44701410	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccaactcacacctcatgCgacaccatagaacccatctt	3	16	3	1	rs148645131		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:44701410C>T	uc003cnq.2	+	4	1776	c.1555C>T	c.(1555-1557)CGA>TGA	p.R519*	ZNF35_uc003cnr.2_Nonsense_Mutation_p.R359*	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	519	C2H2-type 11.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		ACACCTCATGCGACACCATAG	0.498													T	44701410	C	T	44701410	4	4	27	1	0	0	0	0	0	1	0	0	17859	760	27	1	1565	1	ZNF35	3	44701410	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	8779	44701410	153321020	1646	25597											
FYCO1	79443	broad.mit.edu	37	chr3	45972594	45972594	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcggtgtgtcctcggccTcctggaagaccacactgaag	12	14	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:45972594T>C	uc003cpb.3	-	16	4426	c.4220A>G	c.(4219-4221)GAG>GGG	p.E1407G	FYCO1_uc011bal.1_Missense_Mutation_p.E1427G	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1407	GOLD.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GTCCTCGGCCTCCTGGAAGAC	0.587													C	45972594	T	C	45972594	3	2	27	1	0	0	0	0	1	0	0	0	6125	1551	54	3	228	3	FYCO1	3	45972594	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1271184	45972594	152049836	1647	25598											
FYCO1	79443	broad.mit.edu	37	chr3	46000895	46000895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctgacctgcagtggtGccgccgcaccatccagctga	11	17	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:46000895G>A	uc003cpb.3	-	12	3783	c.3577C>T	c.(3577-3579)CAC>TAC	p.H1193Y	FYCO1_uc011bal.1_Missense_Mutation_p.H1193Y	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1193	FYVE-type.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGCAGTGGTGCCGCCGCACC	0.602													A	46000895	G	A	46000895	3	1	27	1	0	0	0	0	1	0	0	0	6125	1319	46	2	887	2	FYCO1	3	46000895	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	28301	46000895	152021535	1648	25599											
FYCO1	79443	broad.mit.edu	37	chr3	46005857	46005857	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttcacgcagggcagccccCtccttgtccttcctcagcat	7	18	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:46005857C>A	uc003cpb.3	-	10	3446	c.3240G>T	c.(3238-3240)GAG>GAT	p.E1080D	FYCO1_uc011bal.1_Missense_Mutation_p.E1080D	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1080	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GGGCAGCCCCCTCCTTGTCCT	0.557													A	46005857	C	A	46005857	3	1	27	1	0	0	0	0	1	0	0	0	6125	680	24	5	1232	5	FYCO1	3	46005857	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4962	46005857	152016573	1649	25600											
FYCO1	79443	broad.mit.edu	37	chr3	46008779	46008779	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctccttggccttccttacagCcagcaagctcgcctccatct	6	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:46008779C>G	uc003cpb.3	-	8	2253	c.2047G>C	c.(2047-2049)GCT>CCT	p.A683P	FYCO1_uc011bal.1_Missense_Mutation_p.A683P	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	683	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TTCCTTACAGCCAGCAAGCTC	0.632													G	46008779	C	G	46008779	3	3	27	1	0	0	0	0	1	0	0	0	6125	739	26	5	2433	5	FYCO1	3	46008779	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2922	46008779	152013651	1650	25601											
CCR3	1232	broad.mit.edu	37	chr3	46307353	46307353	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgccccagtaaaaaaaagtAcaaggccatccggctcattt	8	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:46307353A>G	uc003cpg.1	+	4	1247	c.704A>G	c.(703-705)TAC>TGC	p.Y235C	CCR3_uc003cpi.1_Missense_Mutation_p.Y235C|CCR3_uc003cpj.1_Missense_Mutation_p.Y235C|CCR3_uc003cpk.1_Missense_Mutation_p.Y256C|CCR3_uc010hjb.1_Missense_Mutation_p.Y253C|CCR3_uc003cpl.1_Missense_Mutation_p.Y268C	NM_178329	NP_847899	P51677	CCR3_HUMAN	CC chemokine receptor 3 isoform 1	235	Cytoplasmic (Potential).				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				ovary(3)|lung(3)|breast(1)|kidney(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		AAAAAAAAGTACAAGGCCATC	0.453													G	46307353	A	G	46307353	3	3	27	1	0	0	0	0	1	0	0	0	2942	391	14	3	773	3	CCR3	3	46307353	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	298574	46307353	151715077	1651	25602											
CCR2	729230	broad.mit.edu	37	chr3	46399365	46399365	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaatgcaatgtgcaaattatTcacagggctgtatcacatcg	9	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:46399365T>A	uc003cpn.3	+	2	832	c.347T>A	c.(346-348)TTC>TAC	p.F116Y	CCR2_uc003cpm.3_Missense_Mutation_p.F116Y	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2 isoform A	116	Helical; Name=3; (Potential).				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			lung(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TGCAAATTATTCACAGGGCTG	0.438													A	46399365	T	A	46399365	3	1	27	1	0	0	0	0	1	0	0	0	2941	1783	62	5	349	5	CCR2	3	46399365	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	92012	46399365	151623065	1652	25603											
CCR5	1234	broad.mit.edu	37	chr3	46415345	46415345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttccaaaagcacattgccAaacgcttctgcaaatgctgt	6	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:46415345A>G	uc003cpo.3	+	3	1074	c.952A>G	c.(952-954)AAA>GAA	p.K318E	CCR5_uc010hjd.2_Missense_Mutation_p.K318E	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5	318	Cytoplasmic (Potential).				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GCACATTGCCAAACGCTTCTG	0.498													G	46415345	A	G	46415345	3	3	27	1	0	0	0	0	1	0	0	0	2944	131	5	3	954	3	CCR5	3	46415345	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	15980	46415345	151607085	1653	25604											
LTF	4057	broad.mit.edu	37	chr3	46484968	46484968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgtagtatctctcgttgCtgttgggcacgcacttattc	10	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:46484968C>T	uc003cpq.2	-	13	1657	c.1619G>A	c.(1618-1620)AGC>AAC	p.S540N	LTF_uc003fzr.2_Missense_Mutation_p.S496N|LTF_uc010hjh.2_Missense_Mutation_p.S538N|LTF_uc003cpr.2_Missense_Mutation_p.S527N	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	540	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			central_nervous_system(2)|ovary(1)|lung(1)	4				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TCTCTCGTTGCTGTTGGGCAC	0.532													T	46484968	C	T	46484968	3	4	27	1	0	0	0	0	1	0	0	0	9079	797	28	2	533	2	LTF	3	46484968	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	69623	46484968	151537462	1654	25605											
ALS2CL	259173	broad.mit.edu	37	chr3	46729723	46729723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccagagttgctgggagCtcttgtgcagctgttgcaag	13	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:46729723C>T	uc003cqa.1	-	3	357	c.167G>A	c.(166-168)AGC>AAC	p.S56N	ALS2CL_uc003cqb.1_Missense_Mutation_p.S56N|ALS2CL_uc003cqc.1_RNA	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1	56					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TTGCTGGGAGCTCTTGTGCAG	0.622													T	46729723	C	T	46729723	3	4	27	1	0	0	0	0	1	0	0	0	551	797	28	2	2790	2	ALS2CL	3	46729723	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	244755	46729723	151292707	1655	25606											
NBEAL2	23218	broad.mit.edu	37	chr3	47037074	47037074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgcaccctatggatacaGcacctacccctgcccccacc	6	20	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:47037074G>A	uc003cqp.2	+	13	2028	c.1849G>A	c.(1849-1851)GCA>ACA	p.A617T	NBEAL2_uc003cqq.1_Missense_Mutation_p.A583T|NBEAL2_uc010hjm.1_Missense_Mutation_p.A178T	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	617							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TATGGATACAGCACCTACCCC	0.637													A	47037074	G	A	47037074	3	1	27	1	0	0	0	0	1	0	0	0	10189	971	34	2	1899	2	NBEAL2	3	47037074	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	307351	47037074	150985356	1656	25607											
NBEAL2	23218	broad.mit.edu	37	chr3	47037863	47037863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccctggcctacactcacCccgccctcacccgctcccag	5	25	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:47037863C>T	uc003cqp.2	+	16	2433	c.2254C>T	c.(2254-2256)CCC>TCC	p.P752S	NBEAL2_uc010hjm.1_Missense_Mutation_p.P313S	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	752							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CTACACTCACCCCGCCCTCAC	0.682													T	47037863	C	T	47037863	3	4	27	1	0	0	0	0	1	0	0	0	10189	623	22	4	2316	4	NBEAL2	3	47037863	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	789	47037863	150984567	1657	25608											
NBEAL2	23218	broad.mit.edu	37	chr3	47042782	47042782	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgccagcctcctggagatgAtgctggagtcagccctgacc	12	15	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:47042782A>G	uc003cqp.2	+	29	4677	c.4498A>G	c.(4498-4500)ATG>GTG	p.M1500V	NBEAL2_uc010hjm.1_Missense_Mutation_p.M877V|NBEAL2_uc010hjn.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1500							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCTGGAGATGATGCTGGAGTC	0.632													G	47042782	A	G	47042782	3	3	27	1	0	0	0	0	1	0	0	0	10189	333	12	3	4612	3	NBEAL2	3	47042782	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4919	47042782	150979648	1658	25609											
NBEAL2	23218	broad.mit.edu	37	chr3	47043945	47043945	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtttctggaatgcctgctatGacatgcttatgagcagtggg	13	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:47043945G>A	uc003cqp.2	+	32	5415	c.5236G>A	c.(5236-5238)GAC>AAC	p.D1746N	NBEAL2_uc010hjm.1_Missense_Mutation_p.D1123N|NBEAL2_uc010hjn.1_Missense_Mutation_p.D142N|NBEAL2_uc010hjo.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1746							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGCCTGCTATGACATGCTTAT	0.587													A	47043945	G	A	47043945	3	1	27	1	0	0	0	0	1	0	0	0	10189	1290	45	4	5362	4	NBEAL2	3	47043945	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1163	47043945	150978485	1659	25610											
NBEAL2	23218	broad.mit.edu	37	chr3	47045664	47045664	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcacttgagctcttctttatCgatcaggccaactacttcct	6	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:47045664C>A	uc003cqp.2	+	37	6158	c.5979C>A	c.(5977-5979)ATC>ATA	p.I1993I	NBEAL2_uc010hjm.1_Silent_p.I1370I|NBEAL2_uc010hjn.1_Silent_p.I389I|NBEAL2_uc010hjo.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1993							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCTTCTTTATCGATCAGGCCA	0.602													A	47045664	C	A	47045664	2	1	27	1	0	0	0	0	0	0	0	1	10189	874	31	5		5	NBEAL2	3	47045664	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1719	47045664	150976766	1660	25611											
KIF9	64147	broad.mit.edu	37	chr3	47288960	47288960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcataggtcacaaaggtgCggttggtcttgaaggaggat	16	5	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:47288960C>T	uc010hjp.2	-	13	1740	c.1136G>A	c.(1135-1137)CGC>CAC	p.R379H	KIF9_uc003cqx.2_Missense_Mutation_p.R379H|KIF9_uc003cqy.2_Missense_Mutation_p.R379H|KIF9_uc011bat.1_RNA|KIF9_uc011bau.1_RNA	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN	kinesin family member 9 isoform 2	379	Potential.				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CACAAAGGTGCGGTTGGTCTT	0.547													T	47288960	C	T	47288960	3	4	27	1	0	0	0	0	1	0	0	0	8310	768	27	1	1276	1	KIF9	3	47288960	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	243296	47288960	150733470	1661	25612											
KIF9	64147	broad.mit.edu	37	chr3	47315142	47315142	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctgcccataacacatgAtggtgcctgcaaacatttca	7	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:47315142A>G	uc010hjp.2	-	5	870	c.266T>C	c.(265-267)ATC>ACC	p.I89T	KIF9_uc003cqx.2_Missense_Mutation_p.I89T|KIF9_uc003cqy.2_Missense_Mutation_p.I89T|KIF9_uc011bat.1_Intron|KIF9_uc011bau.1_RNA	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN	kinesin family member 9 isoform 2	89	Kinesin-motor.				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATAACACATGATGGTGCCTGC	0.557													G	47315142	A	G	47315142	3	3	27	1	0	0	0	0	1	0	0	0	8310	333	12	3	2178	3	KIF9	3	47315142	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	26182	47315142	150707288	1662	25613											
PTPN23	25930	broad.mit.edu	37	chr3	47449865	47449865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattcaatgcagttggatccCgagacggtggacaaccttga	12	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:47449865C>T	uc003crf.1	+	15	1311	c.1215C>T	c.(1213-1215)CCC>CCT	p.P405P	PTPN23_uc011baw.1_Silent_p.P370P|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Silent_p.P275P	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	405	TPR 2.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	p.P405P(1)		breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTTGGATCCCGAGACGGTGG	0.597													T	47449865	C	T	47449865	2	4	27	1	0	0	0	0	0	0	0	1	12788	639	23	1		1	PTPN23	3	47449865	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	134723	47449865	150572565	1663	25614											
PTPN23	25930	broad.mit.edu	37	chr3	47454597	47454597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctgcaggcccataacggGcaagggctgcgggccacccg	14	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:47454597G>A	uc003crf.1	+	25	4929	c.4833G>A	c.(4831-4833)GGG>GGA	p.G1611G	PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Silent_p.G1481G|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1611					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCATAACGGGCAAGGGCTGC	0.607													A	47454597	G	A	47454597	2	1	27	1	0	0	0	0	0	0	0	1	12788	1190	42	2		2	PTPN23	3	47454597	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4732	47454597	150567833	1664	25615											
PTPN23	25930	broad.mit.edu	37	chr3	47454675	47454675	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggacactcaacaagacctgAacaggttttgcctacctggt	9	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:47454675A>G	uc003crf.1	+	25	5007	c.4911A>G	c.(4909-4911)TGA>TGG	p.*1637W	PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Nonstop_Mutation_p.*1507W|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1637					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACAAGACCTGAACAGGTTTTG	0.577													G	47454675	A	G	47454675	4	3	27	1	0	0	0	0	0	0	0	0	12788	259	9	3	5009	3	PTPN23	3	47454675	Nonstop_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	78	47454675	150567755	1665	25616											
SCAP	22937	broad.mit.edu	37	chr3	47456380	47456380	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggctttcagggctgtgatGggtttttggtgtgcacaggg	18	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:47456380G>A	uc003crh.1	-	20	3498	c.3243C>T	c.(3241-3243)CCC>CCT	p.P1081P	SCAP_uc011baz.1_Silent_p.P825P|SCAP_uc003crg.2_Silent_p.P688P|uc003cri.2_RNA	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	1081	Interaction with SREBF2 (By similarity).|Cytoplasmic (By similarity).|WD 4.				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GGGCTGTGATGGGTTTTTGGT	0.612													A	47456380	G	A	47456380	2	1	27	1	0	0	0	0	0	0	0	1	13877	1335	47	4		4	SCAP	3	47456380	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1705	47456380	150566050	1666	25617											
CSPG5	10675	broad.mit.edu	37	chr3	47618517	47618517	+	Frame_Shift_Del	DEL	G	G	-													ctgagggcgatgctgctgccGgggaccgaccccagagtgtg					rs142769230	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:47618516_47618516CG>C	uc003crp.4	-	1	1176	c.1000_1000CG>G	c.(1000-1002)ggcfs	p.G334fs	CSPG5_uc003crn.3_Frame_Shift_Del_p.G196fs|CSPG5_uc003cro.4_Frame_Shift_Del_p.G334fs|CSPG5_uc021wxh.1_Frame_Shift_Del_p.G334fs|CSPG5_uc021wxi.1_Frame_Shift_Del_p.G196fs|CSPG5_uc011bbb.2_Frame_Shift_Del_p.G196fs	NM_001206943	NP_001193872	O95196	CSPG5_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 5 (neuroglycan C) (CSPG5), transcript variant 3, mRNA.	334					cell differentiation|intracellular transport|nervous system development|regulation of growth	Golgi-associated vesicle membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ATGCTGCTGCCGGGGACCGAC	0.667													-	47618517	G	-	47618517	7	5	27	1	0	1	0	1	0	0	0	0	3961	1103	39	0	636	0	CSPG5	3	47618517	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	162137	47618517	150403913	1667	25618											
CSPG5	10675	broad.mit.edu	37	chr3	47618735	47618735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggtagaaatcagattcatCgaagggggtgaaatcatcgt	14	5	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:47618735C>T	uc003crp.3	-	2	957	c.781G>A	c.(781-783)GAT>AAT	p.D261N	CSPG5_uc003crn.2_Missense_Mutation_p.D123N|CSPG5_uc003cro.3_Missense_Mutation_p.D261N|CSPG5_uc011bbb.1_Missense_Mutation_p.D123N	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	261	Extracellular (Potential).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCAGATTCATCGAAGGGGGTG	0.368													T	47618735	C	T	47618735	3	4	27	1	0	0	0	0	1	0	0	0	3961	884	31	1	854	1	CSPG5	3	47618735	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	218	47618735	150403695	1668	25619											
SMARCC1	6599	broad.mit.edu	37	chr3	47719791	47719791	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaatcataaaatttcgatAtgccaagtatctaaaaagca	5	7	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:47719791A>G	uc003crq.2	-	16	1586	c.1468T>C	c.(1468-1470)TAT>CAT	p.Y490H	SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.Y381H	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	490	SWIRM.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		AAATTTCGATATGCCAAGTAT	0.373													G	47719791	A	G	47719791	3	3	27	1	0	0	0	0	1	0	0	0	14775	449	16	3	1901	3	SMARCC1	3	47719791	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	101056	47719791	150302639	1669	25620											
SMARCC1	6599	broad.mit.edu	37	chr3	47727576	47727576	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcataactaggaataaTaatgtgattggtctgctctg	10	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:47727576T>C	uc003crq.2	-	14	1466	c.1348A>G	c.(1348-1350)ATT>GTT	p.I450V	SMARCC1_uc011bbd.1_Missense_Mutation_p.I341V	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	450	SWIRM.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CTAGGAATAATAATGTGATTG	0.413													C	47727576	T	C	47727576	3	2	27	1	0	0	0	0	1	0	0	0	14775	1406	49	3	2029	3	SMARCC1	3	47727576	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	7785	47727576	150294854	1670	25621											
SMARCC1	6599	broad.mit.edu	37	chr3	47787474	47787474	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagctttgaaatccatgaAacactttgcctaaaaatgat	5	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:47787474A>G	uc003crq.2	-	3	443	c.325T>C	c.(325-327)TTC>CTC	p.F109L	SMARCC1_uc011bbd.1_5'UTR	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	109					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		AAATCCATGAAACACTTTGCC	0.308													G	47787474	A	G	47787474	3	3	27	1	0	0	0	0	1	0	0	0	14775	14	1	3	3096	3	SMARCC1	3	47787474	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	59898	47787474	150234956	1671	25622											
DHX30	22907	broad.mit.edu	37	chr3	47889772	47889772	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgcctaccacttgttccctCgaagccggctggagaaaatg	10	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:47889772C>T	uc003cru.2	+	15	2815	c.2389C>T	c.(2389-2391)CGA>TGA	p.R797*	DHX30_uc003crt.2_Nonsense_Mutation_p.R758*|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	797	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTTGTTCCCTCGAAGCCGGCT	0.488													T	47889772	C	T	47889772	4	4	27	1	0	0	0	0	0	1	0	0	4504	876	31	1	2450	1	DHX30	3	47889772	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	102298	47889772	150132658	1672	25623											
DHX30	22907	broad.mit.edu	37	chr3	47890735	47890735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggccttcctggtggggaagCcctcggactgcaccctggcc	14	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:47890735C>A	uc003cru.2	+	19	3409	c.2983C>A	c.(2983-2985)CCC>ACC	p.P995T	DHX30_uc003crt.2_Missense_Mutation_p.P956T|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	995						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGTGGGGAAGCCCTCGGACTG	0.597													A	47890735	C	A	47890735	3	1	27	1	0	0	0	0	1	0	0	0	4504	739	26	5	3060	5	DHX30	3	47890735	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	963	47890735	150131695	1673	25624											
CDC25A	993	broad.mit.edu	37	chr3	48200451	48200451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcagagcttcttcagaCgactgtacatctccctcttg	7	15	5	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:48200451C>T	uc003csh.1	-	15	1923	c.1559G>A	c.(1558-1560)CGT>CAT	p.R520H	CDC25A_uc003csi.1_Missense_Mutation_p.R480H	NM_001789	NP_001780	P30304	MPIP1_HUMAN	cell division cycle 25A isoform a	520				R->L: Abrogates binding to CCNB1; when associated with L-514.	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)		CTTCTTCAGACGACTGTACAT	0.572													T	48200451	C	T	48200451	3	4	27	1	0	0	0	0	1	0	0	0	3062	536	19	1	19	1	CDC25A	3	48200451	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	309716	48200451	149821979	1674	25625											
CDC25A	993	broad.mit.edu	37	chr3	48205845	48205845	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcagtgaaacacaacaatgAcacgcttgccatcagtaggt	9	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:48205845A>G	uc003csh.1	-	13	1638	c.1274T>C	c.(1273-1275)GTC>GCC	p.V425A	CDC25A_uc003csi.1_Missense_Mutation_p.V385A	NM_001789	NP_001780	P30304	MPIP1_HUMAN	cell division cycle 25A isoform a	425	Rhodanese.				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)		CACAACAATGACACGCTTGCC	0.493													G	48205845	A	G	48205845	3	3	27	1	0	0	0	0	1	0	0	0	3062	275	10	3	312	3	CDC25A	3	48205845	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	5394	48205845	149816585	1675	25626											
CAMP	820	broad.mit.edu	37	chr3	48266137	48266137	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgaccctcaaccaggccagGggctcctttgacatcagttg	11	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:48266137G>T	uc003csj.1	+	3	494	c.354G>T	c.(352-354)AGG>AGT	p.R118S		NM_004345	NP_004336	P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	118					killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region				upper_aerodigestive_tract(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ACCAGGCCAGGGGCTCCTTTG	0.537													T	48266137	G	T	48266137	3	4	27	1	0	0	0	0	1	0	0	0	2610	1223	43	5	364	5	CAMP	3	48266137	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	60292	48266137	149756293	1676	25627											
NME6	10201	broad.mit.edu	37	chr3	48336637	48336637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatctggggccacatggcGtgctcggaacactctggtgg	15	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:48336637G>A	uc003csp.3	-	5	373	c.322C>T	c.(322-324)CGC>TGC	p.R108C	NME6_uc003cso.2_Missense_Mutation_p.R116C|NME6_uc011bbh.1_Silent_p.H94H|NME6_uc010hju.2_Missense_Mutation_p.R10C|NME6_uc011bbi.1_Intron	NM_005793	NP_005784	O75414	NDK6_HUMAN	nucleoside diphosphate kinase type 6	108					anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity				0				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GCCACATGGCGTGCTCGGAAC	0.587													A	48336637	G	A	48336637	3	1	27	1	0	0	0	0	1	0	0	0	10495	1145	40	1	246	1	NME6	3	48336637	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	70500	48336637	149685793	1677	25628											
PLXNB1	5364	broad.mit.edu	37	chr3	48456404	48456404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgggagggcaggtgtgCggcacgtgatgagctgggag	22	7	0	2	rs149435305	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:48456404C>T	uc003csw.2	-	21	4283	c.4013G>A	c.(4012-4014)CGC>CAC	p.R1338H	PLXNB1_uc003cst.2_5'Flank|PLXNB1_uc003csu.2_Missense_Mutation_p.R1155H|PLXNB1_uc003csx.2_Missense_Mutation_p.R1338H|PLXNB1_uc010hjx.1_RNA|PLXNB1_uc003csy.1_Missense_Mutation_p.R46H	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1338	Extracellular (Potential).|IPT/TIG 3.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCAGGTGTGCGGCACGTGAT	0.582													T	48456404	C	T	48456404	3	4	27	1	0	0	0	0	1	0	0	0	12123	768	27	1	2466	1	PLXNB1	3	48456404	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	119767	48456404	149566026	1678	25629											
COL7A1	1294	broad.mit.edu	37	chr3	48615911	48615911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagggggaccagaggggCcagggaggccctgttctcca	16	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:48615911C>T	uc003ctz.2	-	63	5463	c.5462G>A	c.(5461-5463)GGC>GAC	p.G1821D		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1821	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCAGAGGGGCCAGGGAGGCC	0.562													T	48615911	C	T	48615911	3	4	27	1	0	0	0	0	1	0	0	0	3704	739	26	2	3596	2	COL7A1	3	48615911	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	159507	48615911	149406519	1679	25630											
TMEM89	440955	broad.mit.edu	37	chr3	48658279	48658279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggcacatgttcggtcacCcactctgggtggaagtcccc	12	13	2	1	rs150843832		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:48658279C>T	uc011bbo.1	-	2	476	c.476G>A	c.(475-477)GGG>GAG	p.G159E		NM_001008269	NP_001008270	A2RUT3	TMM89_HUMAN	transmembrane protein 89 precursor	159	Cytoplasmic (Potential).					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTTCGGTCACCCACTCTGGGT	0.572													T	48658279	C	T	48658279	3	4	27	1	0	0	0	0	1	0	0	0	16210	623	22	4	6	4	TMEM89	3	48658279	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	42368	48658279	149364151	1680	25631											
CELSR3	1951	broad.mit.edu	37	chr3	48697789	48697789	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cattcagtcgtaggtggtacTccttcattgtgaactcaggc	10	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:48697789T>A	uc003cul.2	-	1	2560	c.2279A>T	c.(2278-2280)GAG>GTG	p.E760V	CELSR3_uc003cuf.1_Missense_Mutation_p.E830V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	760	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TAGGTGGTACTCCTTCATTGT	0.567													A	48697789	T	A	48697789	3	1	27	1	0	0	0	0	1	0	0	0	3223	1551	54	5	7799	5	CELSR3	3	48697789	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	39510	48697789	149324641	1681	25632											
NCKIPSD	51517	broad.mit.edu	37	chr3	48717233	48717233	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccctccatcctgcacataCcatttggtaataggccacca	5	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:48717233C>T	uc003cun.2	-	7	1444	c.1350_splice	c.e7+1	p.M450_splice	NCKIPSD_uc003cum.2_Splice_Site_p.M443_splice	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain isoform						cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCTGCACATACCATTTGGTAA	0.527													T	48717233	C	T	48717233	5	4	27	1	0	0	0	0	0	0	1	0	10225	521	18	4	845	4	NCKIPSD	3	48717233	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	19444	48717233	149305197	1682	25633											
IP6K2	51447	broad.mit.edu	37	chr3	48725794	48725794	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcatcctggccctcatgcAccacggtgtcctcgccatac	8	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:48725794A>G	uc003cup.2	-	6	1437	c.1193T>C	c.(1192-1194)GTG>GCG	p.V398A	NCKIPSD_uc003cum.2_5'Flank|NCKIPSD_uc003cun.2_5'Flank|NCKIPSD_uc010hkh.1_5'Flank|IP6K2_uc003cuq.2_Missense_Mutation_p.V398A	NM_001005909	NP_001005909	Q9UHH9	IP6K2_HUMAN	inositol hexaphosphate kinase 2 isoform a	398					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						GCCCTCATGCACCACGGTGTC	0.562													G	48725794	A	G	48725794	3	3	27	1	0	0	0	0	1	0	0	0	7789	159	6	3	91	3	IP6K2	3	48725794	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	8561	48725794	149296636	1683	25634											
ARIH2	10425	broad.mit.edu	37	chr3	49017838	49017838	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagacataccagcggaTtcacgagaagattcaggaga	12	9	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:49017838T>A	uc003cvb.2	+	13	1478	c.1166T>A	c.(1165-1167)ATT>AAT	p.I389N	ARIH2_uc003cvc.2_Missense_Mutation_p.I389N|ARIH2_uc003cvf.2_Missense_Mutation_p.I307N|ARIH2_uc010hkl.2_Intron	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	389	Potential.				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TACCAGCGGATTCACGAGAAG	0.498													A	49017838	T	A	49017838	3	1	27	1	0	0	0	0	1	0	0	0	924	1493	52	5	1208	5	ARIH2	3	49017838	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	292044	49017838	149004592	1684	25635											
WDR6	11180	broad.mit.edu	37	chr3	49049542	49049542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctggtacccagcaactgCcttagcagacaacaaacctg	9	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:49049542C>T	uc003cvj.2	+	2	803	c.665C>T	c.(664-666)GCC>GTC	p.A222V	WDR6_uc011bbx.1_Missense_Mutation_p.A93V|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.A166V|WDR6_uc011bbz.1_Missense_Mutation_p.A141V	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	192	WD 2.				cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCAGCAACTGCCTTAGCAGAC	0.542													T	49049542	C	T	49049542	3	4	27	1	0	0	0	0	1	0	0	0	17307	739	26	2	671	2	WDR6	3	49049542	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	31704	49049542	148972888	1685	25636											
IMPDH2	3615	broad.mit.edu	37	chr3	49062235	49062235	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actttgattttgtcagcttcActgcagggagaggcagagac	12	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:49062235A>G	uc003cvt.2	-	12	1388	c.1296T>C	c.(1294-1296)AGT>AGC	p.S432S		NM_000884	NP_000875	P12268	IMDH2_HUMAN	inosine monophosphate dehydrogenase 2	432					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	TGTCAGCTTCACTGCAGGGAG	0.532													G	49062235	A	G	49062235	2	3	27	1	0	0	0	0	0	0	0	1	7727	173	6	3		3	IMPDH2	3	49062235	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	12693	49062235	148960195	1686	25637											
USP19	10869	broad.mit.edu	37	chr3	49148577	49148577	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagccaggctacagtcgtcAcccagctccagtggggtgtc	13	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:49148577A>G	uc003cwd.1	-	22	3203	c.3042T>C	c.(3040-3042)GGT>GGC	p.G1014G	USP19_uc003cwa.2_Silent_p.G822G|USP19_uc003cvz.3_Silent_p.G1117G|USP19_uc011bcg.1_Silent_p.G1105G|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Silent_p.G772G|USP19_uc011bch.1_Silent_p.G1115G	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	1014	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TACAGTCGTCACCCAGCTCCA	0.597													G	49148577	A	G	49148577	2	3	27	1	0	0	0	0	0	0	0	1	17047	146	6	3		3	USP19	3	49148577	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	86342	49148577	148873853	1687	25638											
USP19	10869	broad.mit.edu	37	chr3	49148735	49148735	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatgaatcaattttatagAtgaagaactggggtgtgtgg	14	2	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:49148735A>C	uc003cwd.1	-	21	3133	c.2972T>G	c.(2971-2973)ATC>AGC	p.I991S	USP19_uc003cwa.2_Missense_Mutation_p.I799S|USP19_uc003cvz.3_Missense_Mutation_p.I1094S|USP19_uc011bcg.1_Missense_Mutation_p.I1082S|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.I749S|USP19_uc011bch.1_Missense_Mutation_p.I1092S	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	991	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AATTTTATAGATGAAGAACTG	0.527													C	49148735	A	C	49148735	3	2	27	1	0	0	0	0	1	0	0	0	17047	333	12	5	1008	5	USP19	3	49148735	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	158	49148735	148873695	1688	25639											
LAMB2	3913	broad.mit.edu	37	chr3	49159770	49159770	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctagcacccgtgtggccAccatttcaatgctatcagga	9	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:49159770A>G	uc003cwe.2	-	28	4906	c.4607T>C	c.(4606-4608)GTG>GCG	p.V1536A	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1536	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCGTGTGGCCACCATTTCAAT	0.547													G	49159770	A	G	49159770	3	3	27	1	0	0	0	0	1	0	0	0	8611	159	6	3	809	3	LAMB2	3	49159770	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	11035	49159770	148862660	1689	25640											
LAMB2	3913	broad.mit.edu	37	chr3	49163223	49163223	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccatagtagccaggggcacaGaggtcacagcggcgcccaac	13	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:49163223G>T	uc003cwe.2	-	18	2744	c.2445C>A	c.(2443-2445)CTC>CTA	p.L815L	LAMB2_uc003cwf.1_Silent_p.L815L	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	815	Laminin EGF-like 6.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGGGGCACAGAGGTCACAGC	0.562													T	49163223	G	T	49163223	2	4	27	1	0	0	0	0	0	0	0	1	8611	929	33	5		5	LAMB2	3	49163223	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3453	49163223	148859207	1690	25641											
CCDC71	64925	broad.mit.edu	37	chr3	49201174	49201174	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggggaagcccactgctgcAccccgggcatggctggcact	15	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:49201174A>G	uc003cwg.3	-	2	606	c.468T>C	c.(466-468)GGT>GGC	p.G156G		NM_022903	NP_075054	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	156										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCACTGCTGCACCCCGGGCAT	0.592													G	49201174	A	G	49201174	2	3	27	1	0	0	0	0	0	0	0	1	2844	146	6	3		3	CCDC71	3	49201174	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	37951	49201174	148821256	1691	25642											
CCDC36	339834	broad.mit.edu	37	chr3	49293631	49293631	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagttttagttgctcagcAgagtcaggaattccagcagc	11	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:49293631A>C	uc003cwk.2	+	10	1088	c.701A>C	c.(700-702)CAG>CCG	p.Q234P	CCDC36_uc011bck.1_Missense_Mutation_p.Q234P	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	234	Potential.									ovary(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		GTTGCTCAGCAGAGTCAGGAA	0.493													C	49293631	A	C	49293631	3	2	27	1	0	0	0	0	1	0	0	0	2808	188	7	5	727	5	CCDC36	3	49293631	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	92457	49293631	148728799	1692	25643											
USP4	7375	broad.mit.edu	37	chr3	49331880	49331880	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggtacaaagactcaagggTtaacttgtgcttggggacag	13	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:49331880T>G	uc003cwq.2	-	14	1922	c.1843A>C	c.(1843-1845)ACC>CCC	p.T615P	USP4_uc003cwo.2_Missense_Mutation_p.T327P|USP4_uc003cwp.2_Missense_Mutation_p.T345P|USP4_uc003cwr.2_Missense_Mutation_p.T568P	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	615					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GACTCAAGGGTTAACTTGTGC	0.468													G	49331880	T	G	49331880	3	3	27	1	0	0	0	0	1	0	0	0	17068	1725	60	5	1084	5	USP4	3	49331880	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	38249	49331880	148690550	1693	25644											
BSN	8927	broad.mit.edu	37	chr3	49689428	49689428	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagccaattgaggcacgaCtatgtggaggacagcagtga	15	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:49689428C>T	uc003cxe.3	+	5	2553	c.2439C>T	c.(2437-2439)GAC>GAT	p.D813D		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	813					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGAGGCACGACTATGTGGAGG	0.612													T	49689428	C	T	49689428	2	4	27	1	0	0	0	0	0	0	0	1	1530	564	20	4		4	BSN	3	49689428	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	357548	49689428	148333002	1694	25645											
BSN	8927	broad.mit.edu	37	chr3	49693164	49693164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctcacccgcttcccatgCggcgctatagctcagtgtcg	11	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:49693164C>T	uc003cxe.3	+	5	6289	c.6175C>T	c.(6175-6177)CGG>TGG	p.R2059W		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2059					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCTTCCCATGCGGCGCTATAG	0.607													T	49693164	C	T	49693164	3	4	27	1	0	0	0	0	1	0	0	0	1530	759	27	1	6193	1	BSN	3	49693164	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3736	49693164	148329266	1695	25646											
BSN	8927	broad.mit.edu	37	chr3	49693315	49693315	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgctgccctcaactccatggAccagtatggtgggcggcatg	13	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:49693315A>T	uc003cxe.3	+	5	6440	c.6326A>T	c.(6325-6327)GAC>GTC	p.D2109V		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2109					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AACTCCATGGACCAGTATGGT	0.642													T	49693315	A	T	49693315	3	4	27	1	0	0	0	0	1	0	0	0	1530	275	10	5	6344	5	BSN	3	49693315	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	151	49693315	148329115	1696	25647											
BSN	8927	broad.mit.edu	37	chr3	49698225	49698225	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtacctggagttgggtAtcacacaacgcaaagagtct	10	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:49698225A>T	uc003cxe.3	+	6	9061	c.8947A>T	c.(8947-8949)ATC>TTC	p.I2983F		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2983					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGAGTTGGGTATCACACAACG	0.562													T	49698225	A	T	49698225	3	4	27	1	0	0	0	0	1	0	0	0	1530	449	16	5	8969	5	BSN	3	49698225	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4910	49698225	148324205	1697	25648											
MST1	4485	broad.mit.edu	37	chr3	49721785	49721785	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccaacagtccctcagtgcAcatctcactctcccgcacac	6	19	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:49721785A>G	uc003cxg.2	-	17	2050	c.1978T>C	c.(1978-1980)TGC>CGC	p.C660R		NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	646	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCTCAGTGCACATCTCACTC	0.562													G	49721785	A	G	49721785	3	3	27	1	0	0	0	0	1	0	0	0	9890	159	6	3	207	3	MST1	3	49721785	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	23560	49721785	148300645	1698	25649											
RNF123	63891	broad.mit.edu	37	chr3	49737706	49737706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcatgagcttcttgctggGcatcgtggagaagggcacac	14	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:49737706G>A	uc003cxh.2	+	13	1117	c.1031G>A	c.(1030-1032)GGC>GAC	p.G344D	RNF123_uc010hky.1_Missense_Mutation_p.G6D|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	344						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TTCTTGCTGGGCATCGTGGAG	0.612													A	49737706	G	A	49737706	3	1	27	1	0	0	0	0	1	0	0	0	13433	1203	42	2	1077	2	RNF123	3	49737706	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	15921	49737706	148284724	1699	25650											
RNF123	63891	broad.mit.edu	37	chr3	49737739	49737739	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcacacccacacaggcacAgtccgtggtgcaccaggtcc	12	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:49737739A>C	uc003cxh.2	+	13	1150	c.1064A>C	c.(1063-1065)CAG>CCG	p.Q355P	RNF123_uc010hky.1_Missense_Mutation_p.Q17P|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	355						cytoplasm	ligase activity|protein binding|zinc ion binding	p.Q355fs*60(1)		kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ACACAGGCACAGTCCGTGGTG	0.617													C	49737739	A	C	49737739	3	2	27	1	0	0	0	0	1	0	0	0	13433	188	7	5	1110	5	RNF123	3	49737739	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	33	49737739	148284691	1700	25651											
RNF123	63891	broad.mit.edu	37	chr3	49740860	49740860	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctcaattcctcgcagAggcctacatcccgccccagg	8	19	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:49740860A>G	uc003cxh.2	+	21	1837	c.1751A>G	c.(1750-1752)GAG>GGG	p.E584G	RNF123_uc010hky.1_Missense_Mutation_p.E246G|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	584						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TTCCTCGCAGAGGCCTACATC	0.612											OREG0015571	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	49740860	A	G	49740860	3	3	27	1	0	0	0	0	1	0	0	0	13433	318	11	3	1829	3	RNF123	3	49740860	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3121	49740860	148281570	1701	25652											
AMIGO3	386724	broad.mit.edu	37	chr3	49755433	49755433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagctggcggactcagagCcagccttcagctgcaggcct	14	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:49755433C>T	uc003cxj.2	-	1	1806	c.1466G>A	c.(1465-1467)GGC>GAC	p.G489D	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	489	Cytoplasmic (Potential).				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGACTCAGAGCCAGCCTTCAG	0.652													T	49755433	C	T	49755433	3	4	27	1	0	0	0	0	1	0	0	0	577	739	26	2	52	2	AMIGO3	3	49755433	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	14573	49755433	148266997	1702	25653											
AMIGO3	386724	broad.mit.edu	37	chr3	49755718	49755718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcagcacgagcacaaggCccacggcacagcccagcagt	12	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:49755718C>T	uc003cxj.2	-	1	1521	c.1181G>A	c.(1180-1182)GGC>GAC	p.G394D	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	394	Helical; (Potential).				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GAGCACAAGGCCCACGGCACA	0.512													T	49755718	C	T	49755718	3	4	27	1	0	0	0	0	1	0	0	0	577	739	26	2	337	2	AMIGO3	3	49755718	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	285	49755718	148266712	1703	25654											
AMIGO3	386724	broad.mit.edu	37	chr3	49756426	49756426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtagagatggctgagcGcgcgcaggccgtggaaggca	18	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:49756426G>A	uc003cxj.2	-	1	813	c.473C>T	c.(472-474)GCG>GTG	p.A158V	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	158	Extracellular (Potential).|LRR 5.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATGGCTGAGCGCGCGCAGGCC	0.642											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	49756426	G	A	49756426	3	1	27	1	0	0	0	0	1	0	0	0	577	1087	38	1	1045	1	AMIGO3	3	49756426	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	708	49756426	148266004	1704	25655											
AMIGO3	386724	broad.mit.edu	37	chr3	49756752	49756752	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcacgtcctgcagccctagGccagtgcagcttagcaggtc	13	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:49756752G>C	uc003cxj.2	-	1	487	c.147C>G	c.(145-147)GGC>GGG	p.G49G	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	49	Extracellular (Potential).|LRRNT.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAGCCCTAGGCCAGTGCAGC	0.672											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	49756752	G	C	49756752	2	2	27	1	0	0	0	0	0	0	0	1	577	1190	42	5		5	AMIGO3	3	49756752	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	326	49756752	148265678	1705	25656											
RBM6	10180	broad.mit.edu	37	chr3	50005145	50005146	+	Frame_Shift_Ins	INS	-	-	G													ggacctggacatgatttcagINSggggggagatttttcgtctt					rs141234052		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:50005144_50005145A>AG	uc003cyc.3	+	2	534_535	c.286_287A>AG	c.(286-288)aggfs	p.R96fs	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	96					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACATGATTTCAGGGGGGGAGAT	0.495													G	50005146	-	G	50005145	7	5	27	1	0	1	1	0	0	0	0	0	13144	1000	35	0	293	0	RBM6	3	50005145	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	248393	50005145	148017285	1706	25657											
RBM6	10180	broad.mit.edu	37	chr3	50098595	50098595	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaaaaatatttccgagataGgaggggaggtggcagaaatt	13	3	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:50098595G>T	uc003cyc.2	+	13	2427	c.2294G>T	c.(2293-2295)AGG>ATG	p.R765M	RBM6_uc010hlc.1_Missense_Mutation_p.R284M|RBM6_uc003cyd.2_Missense_Mutation_p.R243M|RBM6_uc003cye.2_Missense_Mutation_p.R243M|RBM6_uc011bdi.1_Missense_Mutation_p.R107M|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	765					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TTCCGAGATAGGAGGGGAGGT	0.368													T	50098595	G	T	50098595	3	4	27	1	0	0	0	0	1	0	0	0	13144	1000	35	5	2340	5	RBM6	3	50098595	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	93450	50098595	147923835	1707	25658											
SEMA3F	6405	broad.mit.edu	37	chr3	50220395	50220395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcacattcctgaaggcgcGgctcgtctgctctgtcccgg	13	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:50220395G>A	uc003cyj.2	+	10	1160	c.962G>A	c.(961-963)CGG>CAG	p.R321Q	SEMA3F_uc003cyk.2_Missense_Mutation_p.R290Q	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	321	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CTGAAGGCGCGGCTCGTCTGC	0.607													A	50220395	G	A	50220395	3	1	27	1	0	0	0	0	1	0	0	0	14029	1116	39	1	996	1	SEMA3F	3	50220395	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	121800	50220395	147802035	1708	25659											
ZMYND10	51364	broad.mit.edu	37	chr3	50380781	50380781	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atccctccccctcaggggggCcaccacagccactctgggcc	10	20	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:50380781C>G	uc003dag.1	-	5	613	c.467G>C	c.(466-468)GGC>GCC	p.G156A	RASSF1_uc003dad.1_5'Flank|RASSF1_uc003dae.1_5'Flank|RASSF1_uc010hlk.1_5'Flank|RASSF1_uc003daf.1_5'Flank|RASSF1_uc011bdq.1_5'Flank|ZMYND10_uc010hll.1_Missense_Mutation_p.G156A|ZMYND10_uc003dah.1_Missense_Mutation_p.G77A|ZMYND10_uc010hlm.1_Missense_Mutation_p.G113A	NM_015896	NP_056980	O75800	ZMY10_HUMAN	zinc finger, MYND domain-containing 10	156						cytoplasm	protein binding|zinc ion binding			lung(4)|ovary(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTCAGGGGGGCCACCACAGCC	0.602										TSP Lung(30;0.18)			G	50380781	C	G	50380781	3	3	27	1	0	0	0	0	1	0	0	0	17702	739	26	5	887	5	ZMYND10	3	50380781	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	160386	50380781	147641649	1709	25660											
NPRL2	10641	broad.mit.edu	37	chr3	50385278	50385278	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcccgagtcacccgcacaggAtacttctgtagtcgcctgat	9	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:50385278A>T	uc003daj.1	-	10	1390	c.987T>A	c.(985-987)TAT>TAA	p.Y329*	ZMYND10_uc003dag.1_5'Flank|ZMYND10_uc010hll.1_5'Flank|ZMYND10_uc003dah.1_5'Flank|ZMYND10_uc010hlm.1_5'Flank|NPRL2_uc003dai.1_Nonsense_Mutation_p.Y209*	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	tumor suppressor candidate 4	329					negative regulation of kinase activity		protein binding|protein kinase activity			lung(1)	1						CCCGCACAGGATACTTCTGTA	0.592													T	50385278	A	T	50385278	4	4	27	1	0	0	0	0	0	1	0	0	10597	340	12	5	163	5	NPRL2	3	50385278	Nonsense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4497	50385278	147637152	1710	25661											
CACNA2D2	9254	broad.mit.edu	37	chr3	50413106	50413106	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctccttataggcacccaggTgtagttccgtgtcacctcat	9	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:50413106T>C	uc003daq.2	-	21	1914	c.1876A>G	c.(1876-1878)ACC>GCC	p.T626A	CACNA2D2_uc003dap.2_Missense_Mutation_p.T626A	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha	626	Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GGCACCCAGGTGTAGTTCCGT	0.627													C	50413106	T	C	50413106	3	2	27	1	0	0	0	0	1	0	0	0	2549	1696	59	3	1658	3	CACNA2D2	3	50413106	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	27828	50413106	147609324	1711	25662											
CISH	1154	broad.mit.edu	37	chr3	50645243	50645243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgctgggtcactaggcGcatcctccttaggcataggc	13	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:50645243G>A	uc003dax.2	-	3	753	c.572C>T	c.(571-573)GCG>GTG	p.A191V	CISH_uc010hlq.2_Missense_Mutation_p.A208V	NM_145071	NP_659508	Q9NSE2	CISH_HUMAN	cytokine-inducible SH2-containing protein	191					intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular					0				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GTCACTAGGCGCATCCTCCTT	0.617													A	50645243	G	A	50645243	3	1	27	1	0	0	0	0	1	0	0	0	3437	1087	38	1	208	1	CISH	3	50645243	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	232137	50645243	147377187	1712	25663											
DOCK3	1795	broad.mit.edu	37	chr3	51101984	51101984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgactcaggatcaggtgcggGaggttaagcggcacatcacc	14	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:51101984G>A	uc011bds.1	+	6	444	c.421G>A	c.(421-423)GAG>AAG	p.E141K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	141						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCAGGTGCGGGAGGTTAAGCG	0.453													A	51101984	G	A	51101984	3	1	27	1	0	0	0	0	1	0	0	0	4688	1175	41	4	443	4	DOCK3	3	51101984	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	456741	51101984	146920446	1713	25664											
DOCK3	1795	broad.mit.edu	37	chr3	51352414	51352414	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggttttgtttttcaggtgAacataagatccactttattc	8	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:51352414A>G	uc011bds.1	+	32	3280	c.3257A>G	c.(3256-3258)GAA>GGA	p.E1086G		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1086						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTTTCAGGTGAACATAAGATC	0.433													G	51352414	A	G	51352414	3	3	27	1	0	0	0	0	1	0	0	0	4688	246	9	3	3383	3	DOCK3	3	51352414	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	250430	51352414	146670016	1714	25665											
DOCK3	1795	broad.mit.edu	37	chr3	51352435	51352435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acataagatccactttattcCgggaatgattggtccttttc	7	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:51352435C>T	uc011bds.1	+	32	3301	c.3278C>T	c.(3277-3279)CCG>CTG	p.P1093L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1093						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CACTTTATTCCGGGAATGATT	0.453													T	51352435	C	T	51352435	3	4	27	1	0	0	0	0	1	0	0	0	4688	652	23	1	3404	1	DOCK3	3	51352435	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	21	51352435	146669995	1715	25666											
DOCK3	1795	broad.mit.edu	37	chr3	51352488	51352488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcccacagccagaagtaCggaatatcatgattcccatc	8	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:51352488C>T	uc011bds.1	+	32	3354	c.3331C>T	c.(3331-3333)CGG>TGG	p.R1111W		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1111						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCCAGAAGTACGGAATATCAT	0.438													T	51352488	C	T	51352488	3	4	27	1	0	0	0	0	1	0	0	0	4688	527	19	1	3457	1	DOCK3	3	51352488	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	53	51352488	146669942	1716	25667											
DOCK3	1795	broad.mit.edu	37	chr3	51376458	51376458	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggccgaaaactacacAggtaagtggggagaagagag	15	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:51376458A>G	uc011bds.1	+	37	3788	c.3765A>G	c.(3763-3765)ACA>ACG	p.T1255T		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1255	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AAAACTACACAGGTAAGTGGG	0.438													G	51376458	A	G	51376458	2	3	27	1	0	0	0	0	0	0	0	1	4688	202	7	3		3	DOCK3	3	51376458	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	23970	51376458	146645972	1717	25668											
DOCK3	1795	broad.mit.edu	37	chr3	51393879	51393879	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactgaccctgacccacagCttgcctggcatctctcggtg	9	16	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:51393879C>T	uc011bds.1	+	43	4481	c.4458C>T	c.(4456-4458)AGC>AGT	p.S1486S		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1486	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGACCCACAGCTTGCCTGGCA	0.552													T	51393879	C	T	51393879	2	4	27	1	0	0	0	0	0	0	0	1	4688	796	28	2		2	DOCK3	3	51393879	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	17421	51393879	146628551	1718	25669											
IQCF1	132141	broad.mit.edu	37	chr3	51936999	51936999	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaagtcagggctcctcctAcctctgcctttgactctgct	7	16	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:51936999A>G	uc003dbv.2	-	2	206	c.108_splice	c.e2+1	p.E36_splice	IQCF1_uc003dbq.3_Splice_Site	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCTCCTCCTACCTCTGCCTT	0.433													G	51936999	A	G	51936999	5	3	27	1	0	0	0	0	0	0	1	0	7807	405	14	3	519	3	IQCF1	3	51936999	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	543120	51936999	146085431	1719	25670											
PARP3	10039	broad.mit.edu	37	chr3	51978146	51978146	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accctgaaccagaccaacatCgagaacaacaacaacaagtt	5	13	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:51978146C>T	uc003dby.2	+	3	596	c.225C>T	c.(223-225)ATC>ATT	p.I75I	RRP9_uc003dbw.1_5'Flank|PARP3_uc003dbz.2_Silent_p.I82I	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	75					DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGACCAACATCGAGAACAACA	0.597													T	51978146	C	T	51978146	2	4	27	1	0	0	0	0	0	0	0	1	11462	874	31	1		1	PARP3	3	51978146	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	41147	51978146	146044284	1720	25671											
PCBP4	57060	broad.mit.edu	37	chr3	51992332	51992332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcgggggccgagctgggCgtccccccagaggtagactt	16	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:51992332C>T	uc003dcd.1	-	12	1353	c.957G>A	c.(955-957)ACG>ACA	p.T319T	PCBP4_uc003dcb.1_Silent_p.T285T|PCBP4_uc003dcc.1_Silent_p.T340T|PCBP4_uc003dce.1_Missense_Mutation_p.A321T|PCBP4_uc003dcf.1_Silent_p.T319T|PCBP4_uc003dcg.1_Silent_p.T285T|PCBP4_uc003dch.1_Silent_p.T319T|PCBP4_uc003dci.1_Silent_p.T159T|PCBP4_uc003dcj.1_Silent_p.T319T|PCBP4_uc003dck.1_Silent_p.T276T|PCBP4_uc003dcl.1_Intron	NM_033010	NP_127503	P57723	PCBP4_HUMAN	poly(rC) binding protein 4 isoform c	319						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCGAGCTGGGCGTCCCCCCAG	0.657													T	51992332	C	T	51992332	2	4	27	1	0	0	0	0	0	0	0	1	11503	755	27	1		1	PCBP4	3	51992332	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	14186	51992332	146030098	1721	25672											
POC1A	25886	broad.mit.edu	37	chr3	52183949	52183949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagtgaagcggtaggcgCgtgactgcggcttcatgtgc	17	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:52183949C>T	uc003dcu.2	-	3	476	c.158G>A	c.(157-159)CGC>CAC	p.R53H	POC1A_uc003dcv.2_Missense_Mutation_p.R15H|POC1A_uc003dcw.2_Missense_Mutation_p.R53H	NM_015426	NP_056241	Q8NBT0	POC1A_HUMAN	WD repeat domain 51A isoform 1	53	WD 1.					centriole|microtubule basal body					0						GCGGTAGGCGCGTGACTGCGG	0.587													T	52183949	C	T	52183949	3	4	27	1	0	0	0	0	1	0	0	0	12175	768	27	1	1101	1	POC1A	3	52183949	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	191617	52183949	145838481	1722	25673											
TLR9	54106	broad.mit.edu	37	chr3	52255388	52255388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaggcgctggcgcagccGcacgtagcgggagcggcggc	20	13	0	1	rs142806370		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:52255388G>A	uc003dda.1	-	2	3578	c.2944C>T	c.(2944-2946)CGG>TGG	p.R982W	TLR9_uc003ddb.2_Missense_Mutation_p.R1079W	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	982	TIR.|Cytoplasmic (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TGGCGCAGCCGCACGTAGCGG	0.716													A	52255388	G	A	52255388	3	1	27	1	0	0	0	0	1	0	0	0	15955	1086	38	1	158	1	TLR9	3	52255388	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	71439	52255388	145767042	1723	25674											
TLR9	54106	broad.mit.edu	37	chr3	52256541	52256541	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagggcccgcagcgacgtActgcagagctgctgggacac	14	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:52256541A>G	uc003dda.1	-	2	2425	c.1791T>C	c.(1789-1791)AGT>AGC	p.S597S	TLR9_uc003ddb.2_Silent_p.S694S	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	597	LRR 19.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GCAGCGACGTACTGCAGAGCT	0.617													G	52256541	A	G	52256541	2	3	27	1	0	0	0	0	0	0	0	1	15955	388	14	3		3	TLR9	3	52256541	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1153	52256541	145765889	1724	25675											
TLR9	54106	broad.mit.edu	37	chr3	52257218	52257218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcggaagaagatgccgtGcatgtccagctccttcaggg	14	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:52257218G>A	uc003dda.1	-	2	1748	c.1114C>T	c.(1114-1116)CAC>TAC	p.H372Y	TLR9_uc003ddb.2_Missense_Mutation_p.H469Y	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	372	LRR 12.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	AAGATGCCGTGCATGTCCAGC	0.587													A	52257218	G	A	52257218	3	1	27	1	0	0	0	0	1	0	0	0	15955	1319	46	2	1988	2	TLR9	3	52257218	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	677	52257218	145765212	1725	25676											
TLR9	54106	broad.mit.edu	37	chr3	52257565	52257565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggagcgtggtcgcagcggCggcaatttccgcccacatcg	15	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:52257565C>T	uc003dda.1	-	2	1401	c.767G>A	c.(766-768)CGC>CAC	p.R256H	TLR9_uc003ddb.2_Missense_Mutation_p.R353H	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	256	LRR 8.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GTCGCAGCGGCGGCAATTTCC	0.617													T	52257565	C	T	52257565	3	4	27	1	0	0	0	0	1	0	0	0	15955	768	27	1	2335	1	TLR9	3	52257565	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	347	52257565	145764865	1726	25677											
DNAH1	25981	broad.mit.edu	37	chr3	52383021	52383021	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgccgtgtccaaggccatgAtcccactgcaggcctacgcc	11	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:52383021A>T	uc011bef.1	+	13	2485	c.2224A>T	c.(2224-2226)ATC>TTC	p.I742F	DNAH1_uc003ddt.1_Missense_Mutation_p.I742F	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	742	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAAGGCCATGATCCCACTGCA	0.582													T	52383021	A	T	52383021	3	4	27	1	0	0	0	0	1	0	0	0	4597	333	12	5	2270	5	DNAH1	3	52383021	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	125456	52383021	145639409	1727	25678											
DNAH1	25981	broad.mit.edu	37	chr3	52403902	52403902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaccagctacagtctcccGctgtggcatggtgtacctgg	11	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:52403902G>A	uc011bef.1	+	38	6266	c.6005G>A	c.(6004-6006)CGC>CAC	p.R2002H		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2002	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACAGTCTCCCGCTGTGGCATG	0.597													A	52403902	G	A	52403902	3	1	27	1	0	0	0	0	1	0	0	0	4597	1087	38	1	6151	1	DNAH1	3	52403902	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	20881	52403902	145618528	1728	25679											
DNAH1	25981	broad.mit.edu	37	chr3	52429663	52429663	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagctggatgccagccctagAacgcctcatcgagcacatca	9	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:52429663A>T	uc011bef.1	+	70	11489	c.11228A>T	c.(11227-11229)GAA>GTA	p.E3743V	DNAH1_uc003ddv.2_Missense_Mutation_p.E601V	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3808	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCAGCCCTAGAACGCCTCATC	0.577													T	52429663	A	T	52429663	3	4	27	1	0	0	0	0	1	0	0	0	4597	246	9	5	11502	5	DNAH1	3	52429663	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	25761	52429663	145592767	1729	25680											
TNNC1	7134	broad.mit.edu	37	chr3	52485813	52485813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcagatttccctttgctGtcgtccttcatgcaccgaac	6	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:52485813G>A	uc003deb.2	-	4	290	c.264C>T	c.(262-264)GAC>GAT	p.D88D		NM_003280	NP_003271	P63316	TNNC1_HUMAN	troponin C, slow	88					cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding				0				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	TCCCTTTGCTGTCGTCCTTCA	0.577													A	52485813	G	A	52485813	2	1	27	1	0	0	0	0	0	0	0	1	16321	1368	48	4		4	TNNC1	3	52485813	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	56150	52485813	145536617	1730	25681											
TNNC1	7134	broad.mit.edu	37	chr3	52486162	52486162	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatctcctgcagctcctcAggggtggggttctggcccag	13	13	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:52486162A>G	uc003deb.2	-	3	188	c.162T>C	c.(160-162)CCT>CCC	p.P54P	NISCH_uc011beg.1_5'Flank	NM_003280	NP_003271	P63316	TNNC1_HUMAN	troponin C, slow	54	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding				0				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	GCAGCTCCTCAGGGGTGGGGT	0.592													G	52486162	A	G	52486162	2	3	27	1	0	0	0	0	0	0	0	1	16321	175	7	3		3	TNNC1	3	52486162	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	349	52486162	145536268	1731	25682											
NISCH	11188	broad.mit.edu	37	chr3	52504925	52504925	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagagctctttgagaaaggTatgtggccacatgtccctga	12	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:52504925T>C	uc011beg.1	+	5	481	c.409_splice	c.e5+2	p.G137_splice	NISCH_uc003ded.3_Splice_Site_p.G137_splice|NISCH_uc003dec.1_Splice_Site_p.G137_splice	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin						apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TTGAGAAAGGTATGTGGCCAC	0.502													C	52504925	T	C	52504925	5	2	27	1	0	0	0	0	0	0	1	0	10432	1652	57	3	425	3	NISCH	3	52504925	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	18763	52504925	145517505	1732	25683											
STAB1	23166	broad.mit.edu	37	chr3	52556242	52556242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccaactgcttgagcaccgGcctggtgagcaggtggggga	17	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:52556242G>A	uc003dej.2	+	59	6535	c.6461G>A	c.(6460-6462)GGC>GAC	p.G2154D	STAB1_uc003dek.1_Missense_Mutation_p.G169D|STAB1_uc003del.2_Missense_Mutation_p.G41D	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	2154	EGF-like 16.|Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TTGAGCACCGGCCTGGTGAGC	0.687													A	52556242	G	A	52556242	3	1	27	1	0	0	0	0	1	0	0	0	15236	1203	42	2	6695	2	STAB1	3	52556242	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	51317	52556242	145466188	1733	25684											
STAB1	23166	broad.mit.edu	37	chr3	52556614	52556614	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggccaccagcggcccTtatggtctgaacttttcgga	10	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:52556614T>G	uc003dej.2	+	61	6728	c.6654T>G	c.(6652-6654)CCT>CCG	p.P2218P	STAB1_uc003dek.1_Silent_p.P233P|STAB1_uc003del.2_Silent_p.P105P	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	2218	Extracellular (Potential).|Link.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCAGCGGCCCTTATGGTCTGA	0.607													G	52556614	T	G	52556614	2	3	27	1	0	0	0	0	0	0	0	1	15236	1596	56	5		5	STAB1	3	52556614	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	372	52556614	145465816	1734	25685											
PBRM1	55193	broad.mit.edu	37	chr3	52598072	52598072	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaagctttacctgaagTagtaaatttcatcatctacc	4	9	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:52598072T>A	uc003des.2	-	23	3881	c.3869A>T	c.(3868-3870)TAC>TTC	p.Y1290F	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.Y1290F|PBRM1_uc003der.2_Missense_Mutation_p.Y1258F|PBRM1_uc003det.2_Missense_Mutation_p.Y1305F|PBRM1_uc003deu.2_Missense_Mutation_p.Y1305F|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.Y1290F|PBRM1_uc010hmk.1_Missense_Mutation_p.Y1265F|PBRM1_uc003dey.2_Missense_Mutation_p.Y1265F|PBRM1_uc003dez.1_Missense_Mutation_p.Y1289F	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	1290					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTACCTGAAGTAGTAAATTTC	0.348			Mis|N|F|S|D|O		clear cell renal carcinoma|breast								A	52598072	T	A	52598072	3	1	27	1	0	0	0	0	1	0	0	0	11491	1638	57	5	1063	5	PBRM1	3	52598072	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	41458	52598072	145424358	1735	25686											
PBRM1	55193	broad.mit.edu	37	chr3	52643740	52643740	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaccatagagtcaatatctTggtacttgttggccatcatg	8	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:52643740T>C	uc003des.2	-	16	2168	c.2156A>G	c.(2155-2157)CAA>CGA	p.Q719R	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.Q719R|PBRM1_uc003der.2_Missense_Mutation_p.Q687R|PBRM1_uc003det.2_Missense_Mutation_p.Q734R|PBRM1_uc003deu.2_Missense_Mutation_p.Q734R|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.Q719R|PBRM1_uc010hmk.1_Missense_Mutation_p.Q719R|PBRM1_uc003dey.2_Missense_Mutation_p.Q719R|PBRM1_uc003dez.1_Missense_Mutation_p.Q719R|PBRM1_uc003dfb.1_Missense_Mutation_p.Q632R|PBRM1_uc003dfa.1_Missense_Mutation_p.Q65R|PBRM1_uc003dfc.2_Missense_Mutation_p.Q86R	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	719	Bromo 5.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.Y718_Q719>*(1)		kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GTCAATATCTTGGTACTTGTT	0.398			Mis|N|F|S|D|O		clear cell renal carcinoma|breast								C	52643740	T	C	52643740	3	2	27	1	0	0	0	0	1	0	0	0	11491	1812	63	3	2804	3	PBRM1	3	52643740	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	45668	52643740	145378690	1736	25687											
GNL3	26354	broad.mit.edu	37	chr3	52722169	52722169	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacaaagccaagtcgggcaaAcagaattcaaagaagctgta	9	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:52722169A>T	uc003dfd.2	+	5	542	c.369A>T	c.(367-369)AAA>AAT	p.K123N	PBRM1_uc003dey.2_5'Flank|GNL3_uc011beh.1_RNA|GNL3_uc003dfe.2_Missense_Mutation_p.K111N|GNL3_uc003dff.2_Missense_Mutation_p.K111N|SNORD19_uc003dfg.1_5'Flank|SNORD19B_uc010hml.1_5'Flank	NM_014366	NP_055181	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3	123					regulation of cell proliferation	nucleolus	GTP binding|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		AGTCGGGCAAACAGAATTCAA	0.393													T	52722169	A	T	52722169	3	4	27	1	0	0	0	0	1	0	0	0	6537	40	2	5	387	5	GNL3	3	52722169	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	78429	52722169	145300261	1737	25688											
NEK4	6787	broad.mit.edu	37	chr3	52745874	52745874	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttttcacccatgtgctcCcgcaaacgtacctatttgag	6	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:52745874C>T	uc003dfq.3	-	16	2634	c.2445G>A	c.(2443-2445)CGG>CGA	p.R815R	NEK4_uc011bej.1_Silent_p.R726R	NM_003157	NP_003148	P51957	NEK4_HUMAN	NIMA-related kinase 4	815					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CCATGTGCTCCCGCAAACGTA	0.264													T	52745874	C	T	52745874	2	4	27	1	0	0	0	0	0	0	0	1	10326	610	22	4		4	NEK4	3	52745874	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	23705	52745874	145276556	1738	25689											
ITIH1	3697	broad.mit.edu	37	chr3	52821105	52821105	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagcccaccatcgacaaGccctcagagggtataggctg	11	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:52821105G>T	uc003dfs.2	+	14	1902	c.1878G>T	c.(1876-1878)AAG>AAT	p.K626N	ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.K227N|ITIH1_uc010hmo.1_Missense_Mutation_p.K180N|ITIH1_uc003dfu.2_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	626	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CCATCGACAAGCCCTCAGAGG	0.567													T	52821105	G	T	52821105	3	4	27	1	0	0	0	0	1	0	0	0	7903	962	34	5	1932	5	ITIH1	3	52821105	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	75231	52821105	145201325	1739	25690											
ITIH3	3699	broad.mit.edu	37	chr3	52828898	52828898	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttcccgagaagccccTttcggctgcttggggtgagt	14	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:52828898T>G	uc003dfv.2	+	1	115	c.79T>G	c.(79-81)TTT>GTT	p.F27V	ITIH3_uc011bek.1_Missense_Mutation_p.F27V	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	27					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GAGAAGCCCCTTTCGGCTGCT	0.597													G	52828898	T	G	52828898	3	3	27	1	0	0	0	0	1	0	0	0	7905	1609	56	5	81	5	ITIH3	3	52828898	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	7793	52828898	145193532	1740	25691											
ITIH3	3699	broad.mit.edu	37	chr3	52833437	52833437	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcacctcaaggccttccagTggtgcctaagaacgtggcct	11	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:52833437T>C	uc003dfv.2	+	8	875	c.839T>C	c.(838-840)GTG>GCG	p.V280A	ITIH3_uc011bek.1_Missense_Mutation_p.V280A	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	280					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGCCTTCCAGTGGTGCCTAAG	0.552													C	52833437	T	C	52833437	3	2	27	1	0	0	0	0	1	0	0	0	7905	1696	59	3	869	3	ITIH3	3	52833437	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4539	52833437	145188993	1741	25692											
ITIH4	3700	broad.mit.edu	37	chr3	52851076	52851076	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccagtcacctcaaccccTgggaggaccagaccagagag	12	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:52851076T>C	uc003dfz.2	-	21	2333	c.2297_splice	c.e21-1	p.G766_splice	ITIH4_uc011bel.1_Splice_Site_p.G480_splice|ITIH4_uc003dfy.2_Splice_Site_p.G561_splice|ITIH4_uc011bem.1_Splice_Site_p.G771_splice|ITIH4_uc011ben.1_Splice_Site_p.G736_splice	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4						acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCTCAACCCCTGGGAGGACCA	0.607													C	52851076	T	C	52851076	5	2	27	1	0	0	0	0	0	0	1	0	7906	1594	55	3	513	3	ITIH4	3	52851076	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	17639	52851076	145171354	1742	25693											
TMEM110	375346	broad.mit.edu	37	chr3	52877754	52877754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgttgacaaagaaggggaCgatcagcatgacgatggcca	14	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:52877754C>T	uc003dge.2	-	6	682	c.601G>A	c.(601-603)GTC>ATC	p.V201I	MUSTN1_uc003dgb.3_5'Flank|TMEM110_uc003dgc.3_Missense_Mutation_p.V201I	NM_198563	NP_940965	Q86TL2	TM110_HUMAN	transmembrane protein 110	201	Helical; (Potential).					integral to membrane				large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		AAGAAGGGGACGATCAGCATG	0.507													T	52877754	C	T	52877754	3	4	27	1	0	0	0	0	1	0	0	0	16024	536	19	1	295	1	TMEM110	3	52877754	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	26678	52877754	145144676	1743	25694											
SFMBT1	51460	broad.mit.edu	37	chr3	52977522	52977522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcacaggtagtgataacggTggcaacccagtaggtctcag	12	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:52977522T>C	uc003dgf.2	-	5	780	c.211A>G	c.(211-213)ACC>GCC	p.T71A	SFMBT1_uc010hmr.2_Missense_Mutation_p.T18A|SFMBT1_uc003dgg.2_Missense_Mutation_p.T71A|SFMBT1_uc003dgh.2_Missense_Mutation_p.T71A	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	71	MBT 1.				regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GTGATAACGGTGGCAACCCAG	0.512													C	52977522	T	C	52977522	3	2	27	1	0	0	0	0	1	0	0	0	14157	1696	59	3	2461	3	SFMBT1	3	52977522	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	99768	52977522	145044908	1744	25695											
SFMBT1	51460	broad.mit.edu	37	chr3	52988359	52988359	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaagacccatagggaactgCtgtggaccctgtttcttcta	9	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:52988359C>A	uc003dgf.2	-	4	666	c.97G>T	c.(97-99)GCA>TCA	p.A33S	SFMBT1_uc003dgg.2_Missense_Mutation_p.A33S|SFMBT1_uc003dgh.2_Missense_Mutation_p.A33S	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	33	MBT 1.				regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TAGGGAACTGCTGTGGACCCT	0.353													A	52988359	C	A	52988359	3	1	27	1	0	0	0	0	1	0	0	0	14157	797	28	5	2579	5	SFMBT1	3	52988359	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	10837	52988359	145034071	1745	25696											
CACNA1D	776	broad.mit.edu	37	chr3	53700410	53700410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgtgcgttctcagggAatggacgccagtgtactgcc	12	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:53700410A>G	uc003dgv.3	+	7	1127	c.964A>G	c.(964-966)AAT>GAT	p.N322D	CACNA1D_uc003dgu.3_Missense_Mutation_p.N322D|CACNA1D_uc003dgy.3_Missense_Mutation_p.N322D|CACNA1D_uc003dgw.3_5'UTR	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	322	Extracellular (Potential).|I.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GTTCTCAGGGAATGGACGCCA	0.522													G	53700410	A	G	53700410	3	3	27	1	0	0	0	0	1	0	0	0	2541	246	9	3	990	3	CACNA1D	3	53700410	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	712051	53700410	144322020	1746	25697											
CACNA1D	776	broad.mit.edu	37	chr3	53757947	53757947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggatgcagctgtttggcgGcaagtttaattttgatgaaa	13	4	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:53757947G>A	uc003dgv.3	+	14	2184	c.2021G>A	c.(2020-2022)GGC>GAC	p.G674D	CACNA1D_uc003dgu.3_Missense_Mutation_p.G694D|CACNA1D_uc003dgy.3_Missense_Mutation_p.G674D|CACNA1D_uc003dgw.3_Missense_Mutation_p.G341D	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	674	Extracellular (Potential).|II.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTGTTTGGCGGCAAGTTTAAT	0.458													A	53757947	G	A	53757947	3	1	27	1	0	0	0	0	1	0	0	0	2541	1203	42	2	2247	2	CACNA1D	3	53757947	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	57537	53757947	144264483	1747	25698											
CACNA1D	776	broad.mit.edu	37	chr3	53783420	53783420	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcatgatgaacatctTtgtgggctttgtcatcgtta	8	7	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:53783420T>C	uc003dgv.3	+	27	3603	c.3440T>C	c.(3439-3441)TTT>TCT	p.F1147S	CACNA1D_uc003dgu.3_Missense_Mutation_p.F1167S|CACNA1D_uc003dgy.3_Missense_Mutation_p.F1147S|CACNA1D_uc003dgw.3_Missense_Mutation_p.F814S|CACNA1D_uc003dgx.1_Missense_Mutation_p.F295S	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1147	Helical; Name=S6 of repeat III; (Potential).|Dihydropyridine binding (By similarity).|III.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ATGAACATCTTTGTGGGCTTT	0.413													C	53783420	T	C	53783420	3	2	27	1	0	0	0	0	1	0	0	0	2541	1841	64	3	3718	3	CACNA1D	3	53783420	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	25473	53783420	144239010	1748	25699											
IL17RB	55540	broad.mit.edu	37	chr3	53892801	53892801	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catccgacataaaggaacagTtgtgctctgcccacaaacag	8	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:53892801T>C	uc003dha.2	+	9	842	c.803T>C	c.(802-804)GTT>GCT	p.V268A		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	interleukin 17B receptor precursor	268	Extracellular (Potential).				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		AAAGGAACAGTTGTGCTCTGC	0.483													C	53892801	T	C	53892801	3	2	27	1	0	0	0	0	1	0	0	0	7640	1725	60	3	837	3	IL17RB	3	53892801	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	109381	53892801	144129629	1749	25700											
ACTR8	93973	broad.mit.edu	37	chr3	53902862	53902862	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agccaacactgcccctccttTccatgcaatcagccgggggt	9	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:53902862T>A	uc003dhd.2	-	13	1818	c.1759A>T	c.(1759-1761)AAA>TAA	p.K587*	ACTR8_uc003dhb.2_Nonsense_Mutation_p.K292*|ACTR8_uc003dhc.2_Nonsense_Mutation_p.K476*	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	587					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		GCCCCTCCTTTCCATGCAATC	0.493													A	53902862	T	A	53902862	4	1	27	1	0	0	0	0	0	1	0	0	217	1792	62	5	119	5	ACTR8	3	53902862	Nonsense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	10061	53902862	144119568	1750	25701											
CACNA2D3	55799	broad.mit.edu	37	chr3	54157558	54157558	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtgaagctctgggcctcGgcttttggtggggagataaa	17	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:54157558G>A	uc003dhf.2	+	2	189	c.141G>A	c.(139-141)TCG>TCA	p.S47S	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_5'UTR|CACNA2D3_uc003dhh.1_RNA	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	47	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TCTGGGCCTCGGCTTTTGGTG	0.527													A	54157558	G	A	54157558	2	1	27	1	0	0	0	0	0	0	0	1	2550	1103	39	1		1	CACNA2D3	3	54157558	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	254696	54157558	143864872	1751	25702											
CACNA2D3	55799	broad.mit.edu	37	chr3	54905633	54905633	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctctgaggtggagtgggAagaccgagatgacgtggtaa	16	7	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:54905633A>G	uc003dhf.2	+	18	1742	c.1694A>G	c.(1693-1695)GAA>GGA	p.E565G	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E471G|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Missense_Mutation_p.E299G	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	565	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GTGGAGTGGGAAGACCGAGAT	0.483													G	54905633	A	G	54905633	3	3	27	1	0	0	0	0	1	0	0	0	2550	246	9	3	1764	3	CACNA2D3	3	54905633	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	748075	54905633	143116797	1752	25703											
CACNA2D3	55799	broad.mit.edu	37	chr3	54922023	54922023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaagtcctttttgacgcGgtggtgagtgcccccattga	12	10	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:54922023G>A	uc003dhf.2	+	24	2142	c.2094G>A	c.(2092-2094)GCG>GCA	p.A698A	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Silent_p.A604A|CACNA2D3_uc003dhh.1_RNA|uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	698	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTTTTGACGCGGTGGTGAGTG	0.527													A	54922023	G	A	54922023	2	1	27	1	0	0	0	0	0	0	0	1	2550	1103	39	1		1	CACNA2D3	3	54922023	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	16390	54922023	143100407	1753	25704											
LRTM1	57408	broad.mit.edu	37	chr3	54958982	54958982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatggaaagctccaggggCcagatttgaaagggaattgt	13	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:54958982C>T	uc003dhl.2	-	2	402	c.268G>A	c.(268-270)GCC>ACC	p.A90T	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	90	Extracellular (Potential).|LRR 2.					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GCTCCAGGGGCCAGATTTGAA	0.443													T	54958982	C	T	54958982	3	4	27	1	0	0	0	0	1	0	0	0	9044	739	26	2	777	2	LRTM1	3	54958982	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	36959	54958982	143063448	1754	25705											
ERC2	26059	broad.mit.edu	37	chr3	56114985	56114985	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attgaggaaagattctttttCttccagtcgtaatctcagcg	8	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:56114985C>T	uc003dhr.1	-	7	1757	c.1501G>A	c.(1501-1503)GAA>AAA	p.E501K	ERC2_uc003dht.1_5'UTR	NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	501	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GATTCTTTTTCTTCCAGTCGT	0.403													T	56114985	C	T	56114985	3	4	27	1	0	0	0	0	1	0	0	0	5211	922	32	4	1406	4	ERC2	3	56114985	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1156003	56114985	141907445	1755	25706											
CCDC66	285331	broad.mit.edu	37	chr3	56653892	56653892	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaaaatagggatcgacAgcaagcaatccttaagggac	12	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:56653892A>G	uc003dhz.2	+	17	2810	c.2723A>G	c.(2722-2724)CAG>CGG	p.Q908R	CCDC66_uc003dhy.2_Missense_Mutation_p.Q544R|CCDC66_uc003dhu.2_Missense_Mutation_p.Q874R|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dia.2_Missense_Mutation_p.Q276R	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66 isoform 1	908										breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AGGGATCGACAGCAAGCAATC	0.448													G	56653892	A	G	56653892	3	3	27	1	0	0	0	0	1	0	0	0	2838	188	7	3	2789	3	CCDC66	3	56653892	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	538907	56653892	141368538	1756	25707											
C3orf63	23272	broad.mit.edu	37	chr3	56657354	56657354	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcagagcatactataTcaatagaagttctctcttca	4	11	5	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:56657354T>A	uc003did.3	-	23	4642	c.4541A>T	c.(4540-4542)GAT>GTT	p.D1514V	C3orf63_uc003dib.3_Missense_Mutation_p.D633V|C3orf63_uc003dic.3_Missense_Mutation_p.D1138V|C3orf63_uc003die.3_3'UTR	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	1575										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		GCATACTATATCAATAGAAGT	0.323													A	56657354	T	A	56657354	3	1	27	1	0	0	0	0	1	0	0	0	2239	1435	50	5	292	5	C3orf63	3	56657354	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3462	56657354	141365076	1757	25708											
SPATA12	353324	broad.mit.edu	37	chr3	57107810	57107810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactagactcttccagactcGttccatggccacccagaggc	8	16	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:57107810G>A	uc003dij.1	+	2	763	c.88G>A	c.(88-90)GTT>ATT	p.V30I	ARHGEF3_uc003dih.2_Intron	NM_181727	NP_859078	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	30											0				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		TTCCAGACTCGTTCCATGGCC	0.567													A	57107810	G	A	57107810	3	1	27	1	0	0	0	0	1	0	0	0	14998	1145	40	1	90	1	SPATA12	3	57107810	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	450456	57107810	140914620	1758	25709											
HESX1	8820	broad.mit.edu	37	chr3	57232257	57232257	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgtgttgaaatttttttTcgccattagaaactgtgatt	7	4	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:57232257T>C	uc003din.3	-	4	860	c.526A>G	c.(526-528)AAA>GAA	p.K176E		NM_003865	NP_003856	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	176						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		AAATTTTTTTTCGCCATTAGA	0.318													C	57232257	T	C	57232257	3	2	27	1	0	0	0	0	1	0	0	0	7072	1792	62	3	35	3	HESX1	3	57232257	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	124447	57232257	140790173	1759	25710											
APPL1	26060	broad.mit.edu	37	chr3	57274552	57274552	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgccatgatgttccccatTacccagtttaaagaaagaga	8	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:57274552T>C	uc003dio.2	+	5	492	c.345T>C	c.(343-345)ATT>ATC	p.I115I	APPL1_uc010hnb.2_Silent_p.I115I|APPL1_uc011bey.1_Silent_p.I98I	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH	115	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TGTTCCCCATTACCCAGTTTA	0.368													C	57274552	T	C	57274552	2	2	27	1	0	0	0	0	0	0	0	1	817	1742	61	3		3	APPL1	3	57274552	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	42295	57274552	140747878	1760	25711											
ASB14	142686	broad.mit.edu	37	chr3	57312659	57312659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagttgcccatcctgagggCtatctggaggcagttaaccg	12	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:57312659C>T	uc003diq.2	-	8	1273	c.685G>A	c.(685-687)GCC>ACC	p.A229T	ASB14_uc003dip.1_Missense_Mutation_p.A108T	NM_001142733	NP_001136205	A6NK59	ASB14_HUMAN	ankyrin repeat and SOCS box-containing 14	393	ANK 10.				intracellular signal transduction						0				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		ATCCTGAGGGCTATCTGGAGG	0.478													T	57312659	C	T	57312659	3	4	27	1	0	0	0	0	1	0	0	0	1018	797	28	2	598	2	ASB14	3	57312659	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	38107	57312659	140709771	1761	25712											
DNAH12	201625	broad.mit.edu	37	chr3	57528453	57528453	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgattaattttctgctgctGctccttggatcttctgtatt	7	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:57528453G>C	uc003dit.2	-	2	326	c.145C>G	c.(145-147)CAG>GAG	p.Q49E	DNAH12_uc003diu.2_Missense_Mutation_p.Q49E	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	dynein heavy chain domain 2 isoform 1	49	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			pancreas(1)|skin(1)	2						TTCTGCTGCTGCTCCTTGGAT	0.363													C	57528453	G	C	57528453	3	2	27	1	0	0	0	0	1	0	0	0	4600	1328	46	5	9408	5	DNAH12	3	57528453	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	215794	57528453	140493977	1762	25713											
FLNB	2317	broad.mit.edu	37	chr3	58104628	58104628	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggttctggtgacttacggTggcgatcccatccctaaaag	11	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:58104628T>C	uc003djj.2	+	19	2940	c.2775T>C	c.(2773-2775)GGT>GGC	p.G925G	FLNB_uc010hne.2_Silent_p.G925G|FLNB_uc003djk.2_Silent_p.G925G|FLNB_uc010hnf.2_Silent_p.G925G|FLNB_uc003djl.2_Silent_p.G756G|FLNB_uc003djm.2_Silent_p.G756G	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	925	Filamin 7.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGACTTACGGTGGCGATCCCA	0.473													C	58104628	T	C	58104628	2	2	27	1	0	0	0	0	0	0	0	1	5934	1683	59	3		3	FLNB	3	58104628	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	576175	58104628	139917802	1763	25714											
FLNB	2317	broad.mit.edu	37	chr3	58108972	58108972	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgctccgacaatggtgatggGacctgctccgtctcttacct	10	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:58108972G>C	uc003djj.2	+	21	3444	c.3279G>C	c.(3277-3279)GGG>GGC	p.G1093G	FLNB_uc010hne.2_Silent_p.G1093G|FLNB_uc003djk.2_Silent_p.G1093G|FLNB_uc010hnf.2_Silent_p.G1093G|FLNB_uc003djl.2_Silent_p.G924G|FLNB_uc003djm.2_Silent_p.G924G	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	1093	Filamin 9.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ATGGTGATGGGACCTGCTCCG	0.532													C	58108972	G	C	58108972	2	2	27	1	0	0	0	0	0	0	0	1	5934	1161	41	5		5	FLNB	3	58108972	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4344	58108972	139913458	1764	25715											
RPP14	11102	broad.mit.edu	37	chr3	58302681	58302681	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctctttgaccctgttaggAtcctataaaggcaaaaaatg	8	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:58302681A>G	uc010hnh.2	+	5	707	c.279A>G	c.(277-279)GGA>GGG	p.G93G	RPP14_uc010hni.2_5'UTR|RPP14_uc003dju.3_Silent_p.G93G|RPP14_uc003djv.3_5'UTR|RPP14_uc003djw.3_5'UTR	NM_001098783	NP_001092253	O95059	RPP14_HUMAN	ribonuclease P 14kDa subunit	93					tRNA processing	nucleus	identical protein binding|ribonuclease P activity|RNA binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000187)|KIRC - Kidney renal clear cell carcinoma(10;0.0102)|Kidney(10;0.0118)|OV - Ovarian serous cystadenocarcinoma(275;0.191)		CCCTGTTAGGATCCTATAAAG	0.393													G	58302681	A	G	58302681	2	3	27	1	0	0	0	0	0	0	0	1	13609	320	12	3		3	RPP14	3	58302681	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	193709	58302681	139719749	1765	25716											
PXK	54899	broad.mit.edu	37	chr3	58395860	58395860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatagtgaagagcattcagCgaagtacagcaactccaata	8	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:58395860C>T	uc003djz.1	+	16	1538	c.1439C>T	c.(1438-1440)GCG>GTG	p.A480V	PXK_uc003djx.1_Missense_Mutation_p.A480V|PXK_uc003djy.1_Missense_Mutation_p.A463V|PXK_uc003dka.1_Missense_Mutation_p.A480V|PXK_uc003dkb.1_Missense_Mutation_p.A397V|PXK_uc003dkc.1_Missense_Mutation_p.A463V|PXK_uc011bfe.1_Missense_Mutation_p.A447V|PXK_uc010hnj.1_Missense_Mutation_p.A447V|PXK_uc003dkd.1_Missense_Mutation_p.A343V|PXK_uc010hnk.1_Missense_Mutation_p.A254V	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	480	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		GAGCATTCAGCGAAGTACAGC	0.433													T	58395860	C	T	58395860	3	4	27	1	0	0	0	0	1	0	0	0	12849	768	27	1	1501	1	PXK	3	58395860	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	93179	58395860	139626570	1766	25717											
ACOX2	8309	broad.mit.edu	37	chr3	58502969	58502969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccaggtaggctgttcttGccatgtccacttgggcacca	12	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:58502969G>A	uc003dkl.2	-	13	1989	c.1814C>T	c.(1813-1815)GCA>GTA	p.A605V		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	acyl-Coenzyme A oxidase 2	605					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		GGCTGTTCTTGCCATGTCCAC	0.532													A	58502969	G	A	58502969	3	1	27	1	0	0	0	0	1	0	0	0	159	1319	46	2	243	2	ACOX2	3	58502969	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	107109	58502969	139519461	1767	25718											
FAM3D	131177	broad.mit.edu	37	chr3	58639434	58639434	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagacggatggttttcatgcTgaagctcatgtagcttcgaa	11	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:58639434T>G	uc003dkq.2	-	3	385	c.88A>C	c.(88-90)AGC>CGC	p.S30R		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	30					negative regulation of insulin secretion	extracellular region	cytokine activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		GTTTTCATGCTGAAGCTCATG	0.577													G	58639434	T	G	58639434	3	3	27	1	0	0	0	0	1	0	0	0	5559	1580	55	5	618	5	FAM3D	3	58639434	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	136465	58639434	139382996	1768	25719											
PTPRG	5793	broad.mit.edu	37	chr3	62180761	62180761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccattagccatgtctcacCcgatagcctttacctgttcc	5	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:62180761C>T	uc003dlb.2	+	10	1963	c.1244C>T	c.(1243-1245)CCC>CTC	p.P415L	PTPRG_uc003dlc.2_Missense_Mutation_p.P415L	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	415	Fibronectin type-III.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CATGTCTCACCCGATAGCCTT	0.502													T	62180761	C	T	62180761	3	4	27	1	0	0	0	0	1	0	0	0	12802	623	22	4	1282	4	PTPRG	3	62180761	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3541327	62180761	135841669	1769	25720											
PTPRG	5793	broad.mit.edu	37	chr3	62204528	62204528	+	Frame_Shift_Del	DEL	A	A	-													atgatttctcttggcagcggAaaaaaacacctctggaatga					rs68168603		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:62204527_62204527GA>G	uc003dlb.3	+	12	2877	c.2158_2158GA>G	c.(2158-2160)gaafs	p.E720fs	PTPRG_uc003dlc.3_Frame_Shift_Del_p.E720fs|PTPRG_uc011bfi.2_5'UTR	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	720					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTTGGCAGCGGAAAAAAACAC	0.507													-	62204528	A	-	62204528	7	5	27	1	0	1	0	1	0	0	0	0	12802	246	9	0	2209	0	PTPRG	3	62204528	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	23767	62204528	135817902	1770	25721											
PTPRG	5793	broad.mit.edu	37	chr3	62262706	62262706	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaggaacagattacattAatgcttcttatatcatggtg	8	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:62262706A>G	uc003dlb.2	+	25	4338	c.3619A>G	c.(3619-3621)AAT>GAT	p.N1207D	PTPRG_uc003dlc.2_Missense_Mutation_p.N1178D|PTPRG_uc011bfi.1_Missense_Mutation_p.N453D|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1207	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGATTACATTAATGCTTCTTA	0.378													G	62262706	A	G	62262706	3	3	27	1	0	0	0	0	1	0	0	0	12802	362	13	3	3717	3	PTPRG	3	62262706	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	58178	62262706	135759724	1771	25722											
CADPS	8618	broad.mit.edu	37	chr3	62636580	62636580	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctggttctcactctcctcgCccatgtcgatgatggaagca	10	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:62636580C>G	uc003dll.2	-	5	1505	c.1145G>C	c.(1144-1146)GGC>GCC	p.G382A	CADPS_uc003dlm.2_Missense_Mutation_p.G382A|CADPS_uc003dln.2_Missense_Mutation_p.G382A	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	382					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACTCTCCTCGCCCATGTCGAT	0.522													G	62636580	C	G	62636580	3	3	27	1	0	0	0	0	1	0	0	0	2570	739	26	5	3093	5	CADPS	3	62636580	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	373874	62636580	135385850	1772	25723											
SYNPR	132204	broad.mit.edu	37	chr3	63466614	63466614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacctcagcatcgacatagCgtttgcctacccattcaggt	7	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:63466614C>T	uc003dlq.2	+	2	500	c.131C>T	c.(130-132)GCG>GTG	p.A44V	SYNPR_uc003dlp.2_Missense_Mutation_p.A64V|SYNPR_uc011bfk.1_Intron|SYNPR_uc011bfl.1_RNA|SYNPR_uc010hnt.2_Missense_Mutation_p.A53V|SYNPR_uc011bfm.1_RNA	NM_144642	NP_653243	Q8TBG9	SYNPR_HUMAN	synaptoporin isoform 2	44	MARVEL.|Vesicular (Potential).					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		ATCGACATAGCGTTTGCCTAC	0.483													T	63466614	C	T	63466614	3	4	27	1	0	0	0	0	1	0	0	0	15456	768	27	1	229	1	SYNPR	3	63466614	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	830034	63466614	134555816	1773	25724											
THOC7	80145	broad.mit.edu	37	chr3	63822025	63822025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaatcacttttgccaaaGcatcatattctgtaagacat	6	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:63822025G>A	uc003dlt.3	-	5	493	c.362C>T	c.(361-363)GCT>GTT	p.A121V	C3orf49_uc003dls.3_Intron|THOC7_uc003dlu.3_Missense_Mutation_p.A58V	NM_025075	NP_079351	Q6I9Y2	THOC7_HUMAN	Ngg1 interacting factor 3 like 1 binding protein	121	Potential.|Interaction with THOC5.|Interaction with NIF3L1.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		TTTTGCCAAAGCATCATATTC	0.313													A	63822025	G	A	63822025	3	1	27	1	0	0	0	0	1	0	0	0	15867	971	34	2	268	2	THOC7	3	63822025	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	355411	63822025	134200405	1774	25725											
ATXN7	6314	broad.mit.edu	37	chr3	63975959	63975959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactgagccagcttctcggtTatccagtgaggagggcgaag	14	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:63975959T>C	uc003dlw.3	+	10	2022	c.1469T>C	c.(1468-1470)TTA>TCA	p.L490S	ATXN7_uc003dlv.2_Missense_Mutation_p.L490S|ATXN7_uc010hnv.2_Missense_Mutation_p.L490S|ATXN7_uc011bfn.1_Missense_Mutation_p.L345S	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	490					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GCTTCTCGGTTATCCAGTGAG	0.552													C	63975959	T	C	63975959	3	2	27	1	0	0	0	0	1	0	0	0	1215	1764	61	3	1567	3	ATXN7	3	63975959	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	153934	63975959	134046471	1775	25726											
ADAMTS9	56999	broad.mit.edu	37	chr3	64589923	64589923	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggtccaagacccaaatcGccactgggttcttggtgcac	12	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:64589923G>A	uc003dmg.2	-	24	3591	c.3559C>T	c.(3559-3561)CGA>TGA	p.R1187*	ADAMTS9_uc011bfo.1_Nonsense_Mutation_p.R1159*|ADAMTS9_uc003dmh.1_Nonsense_Mutation_p.R1016*|ADAMTS9_uc011bfp.1_Nonsense_Mutation_p.R98*	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1187	TSP type-1 7.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GACCCAAATCGCCACTGGGTT	0.532													A	64589923	G	A	64589923	4	1	27	1	0	0	0	0	0	1	0	0	273	1095	38	1	2312	1	ADAMTS9	3	64589923	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	613964	64589923	133432507	1776	25727											
ADAMTS9	56999	broad.mit.edu	37	chr3	64608121	64608121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaagttcttgctcaatgCgatctgttgagttaattctt	8	7	4	1	rs148570059		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:64608121C>T	uc003dmg.2	-	17	2563	c.2531G>A	c.(2530-2532)CGC>CAC	p.R844H	ADAMTS9_uc011bfo.1_Missense_Mutation_p.R816H|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R673H|ADAMTS9_uc003dmk.1_Missense_Mutation_p.R844H	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	844	Spacer.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTGCTCAATGCGATCTGTTGA	0.453													T	64608121	C	T	64608121	3	4	27	1	0	0	0	0	1	0	0	0	273	768	27	1	3368	1	ADAMTS9	3	64608121	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	18198	64608121	133414309	1777	25728											
ADAMTS9	56999	broad.mit.edu	37	chr3	64627598	64627598	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcaggttccaaagggactCcaacttccccaggatccatc	9	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:64627598C>T	uc003dmg.2	-	12	1814	c.1782G>A	c.(1780-1782)TGG>TGA	p.W594*	ADAMTS9_uc011bfo.1_Nonsense_Mutation_p.W566*|ADAMTS9_uc003dmh.1_Nonsense_Mutation_p.W423*|ADAMTS9_uc003dmk.1_Nonsense_Mutation_p.W594*	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	594	TSP type-1 1.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAAAGGGACTCCAACTTCCCC	0.463													T	64627598	C	T	64627598	4	4	27	1	0	0	0	0	0	1	0	0	273	856	30	4	4137	4	ADAMTS9	3	64627598	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	19477	64627598	133394832	1778	25729											
MAGI1	9223	broad.mit.edu	37	chr3	65416466	65416466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcatcccctccaaccaccGtgaagccaaagccacgactg	7	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:65416466G>A	uc003dmn.2	-	11	1980	c.1454C>T	c.(1453-1455)ACG>ATG	p.T485M	MAGI1_uc003dmm.2_Missense_Mutation_p.T485M|MAGI1_uc003dmo.2_Missense_Mutation_p.T485M|MAGI1_uc003dmp.2_Missense_Mutation_p.T485M|MAGI1_uc010hny.2_Missense_Mutation_p.T370M	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	485	PDZ 2.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCCAACCACCGTGAAGCCAAA	0.483													A	65416466	G	A	65416466	3	1	27	1	0	0	0	0	1	0	0	0	9190	1145	40	1	3220	1	MAGI1	3	65416466	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	788868	65416466	132605964	1779	25730											
LRIG1	26018	broad.mit.edu	37	chr3	66434438	66434438	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacagtcagggtggcattaGctgaaatagaaccggctgag	15	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:66434438G>T	uc003dmx.2	-	14	2062	c.2048C>A	c.(2047-2049)GCT>GAT	p.A683D	SLC25A26_uc011bft.1_Intron|LRIG1_uc011bfu.1_Missense_Mutation_p.A303D|LRIG1_uc003dmw.2_Missense_Mutation_p.A349D|LRIG1_uc010hnz.2_Missense_Mutation_p.A399D|LRIG1_uc010hoa.2_Intron	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	683	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGTGGCATTAGCTGAAATAGA	0.428													T	66434438	G	T	66434438	3	4	27	1	0	0	0	0	1	0	0	0	8944	971	34	5	1257	5	LRIG1	3	66434438	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1017972	66434438	131587992	1780	25731											
LRIG1	26018	broad.mit.edu	37	chr3	66467619	66467619	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgatgttgttcaaactcAgatctaacacttctaaggaa	7	9	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:66467619A>C	uc003dmx.2	-	4	451	c.437T>G	c.(436-438)CTG>CGG	p.L146R	LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Missense_Mutation_p.L146R	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	146	Extracellular (Potential).|LRR 4.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GTTCAAACTCAGATCTAACAC	0.532													C	66467619	A	C	66467619	3	2	27	1	0	0	0	0	1	0	0	0	8944	188	7	5	2908	5	LRIG1	3	66467619	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	33181	66467619	131554811	1781	25732											
KBTBD8	84541	broad.mit.edu	37	chr3	67054650	67054650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacgacagtagagagaattGttggacgactgtttgcgcga	13	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:67054650G>A	uc003dmy.2	+	3	1312	c.1259G>A	c.(1258-1260)TGT>TAT	p.C420Y	KBTBD8_uc011bfv.1_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	T-cell activation kelch repeat protein	420	Kelch 2.									ovary(2)|large_intestine(1)|breast(1)	4		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AGAGAGAATTGTTGGACGACT	0.418													A	67054650	G	A	67054650	3	1	27	1	0	0	0	0	1	0	0	0	7999	1377	48	4	1269	4	KBTBD8	3	67054650	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	587031	67054650	130967780	1782	25733											
SUCLG2	8801	broad.mit.edu	37	chr3	67426240	67426240	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggctgaagtaatggggagTccgctgttgttgagtatctt	14	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:67426240T>C	uc003dna.3	-	11	1255	c.1227A>G	c.(1225-1227)GGA>GGG	p.G409G	SUCLG2_uc010hob.2_Silent_p.G156G	NM_003848	NP_003839	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming beta subunit	409					succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|skin(1)	2		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	TAATGGGGAGTCCGCTGTTGT	0.512													C	67426240	T	C	67426240	2	2	27	1	0	0	0	0	0	0	0	1	15364	1654	58	3		3	SUCLG2	3	67426240	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	371590	67426240	130596190	1783	25734											
C3orf64	285203	broad.mit.edu	37	chr3	69050797	69050797	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatgttggtttttcaatgAcaatgtcacatttagcatct	6	6	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:69050797A>G	uc003dnl.2	-	9	1094	c.689T>C	c.(688-690)GTC>GCC	p.V230A	C3orf64_uc003dnj.2_5'UTR|C3orf64_uc003dnk.2_Missense_Mutation_p.V230A|C3orf64_uc011bfw.1_Intron|C3orf64_uc003dnm.1_Intron	NM_173654	NP_775925	Q5NDL2	AER61_HUMAN	AER61 glycosyltransferase	230						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)	1		Lung NSC(201;0.126)		BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216)		TTTTTCAATGACAATGTCACA	0.318													G	69050797	A	G	69050797	3	3	27	1	0	0	0	0	1	0	0	0	2240	275	10	3	670	3	C3orf64	3	69050797	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1624557	69050797	128971633	1784	25735											
LMOD3	56203	broad.mit.edu	37	chr3	69168050	69168050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcttcagcttcaccacccGgaaggagtcagggtctgtcc	10	14	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:69168050G>A	uc003dns.2	-	2	1665	c.1456C>T	c.(1456-1458)CGG>TGG	p.R486W	LMOD3_uc003dnt.2_Missense_Mutation_p.R486W	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	486						cytoplasm|cytoskeleton	tropomyosin binding			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TTCACCACCCGGAAGGAGTCA	0.527													A	69168050	G	A	69168050	3	1	27	1	0	0	0	0	1	0	0	0	8858	1115	39	1	234	1	LMOD3	3	69168050	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	117253	69168050	128854380	1785	25736											
MITF	4286	broad.mit.edu	37	chr3	69928327	69928327	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctccaagcctccgataagCtcctccagtatgacatcacg	7	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:69928327C>A	uc003dnz.2	+	2	263	c.147C>A	c.(145-147)AGC>AGA	p.S49R	MITF_uc011bgb.1_5'UTR|MITF_uc003doa.2_Missense_Mutation_p.S48R|MITF_uc003dob.2_Missense_Mutation_p.S33R|MITF_uc003dod.2_Missense_Mutation_p.S24R|MITF_uc003doc.1_RNA	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	49					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTCCGATAAGCTCCTCCAGTA	0.552			A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome						A	69928327	C	A	69928327	3	1	27	1	0	0	0	0	1	0	0	0	9596	796	28	5	318	5	MITF	3	69928327	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	760277	69928327	128094103	1786	25737											
MITF	4286	broad.mit.edu	37	chr3	69987112	69987112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgtccaaaccagcctgGcgatcatgtcatgccaccgg	10	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:69987112G>A	uc003dnz.2	+	3	610	c.494G>A	c.(493-495)GGC>GAC	p.G165D	MITF_uc011bgb.1_Missense_Mutation_p.G113D|MITF_uc003doa.2_Missense_Mutation_p.G164D|MITF_uc003dob.2_Missense_Mutation_p.G149D|MITF_uc003dod.2_Missense_Mutation_p.G140D|MITF_uc003doe.2_Missense_Mutation_p.G58D|MITF_uc003dof.2_Missense_Mutation_p.G58D	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	165					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		AACCAGCCTGGCGATCATGTC	0.522			A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome						A	69987112	G	A	69987112	3	1	27	1	0	0	0	0	1	0	0	0	9596	1203	42	2	706	2	MITF	3	69987112	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	58785	69987112	128035318	1787	25738											
FOXP1	27086	broad.mit.edu	37	chr3	71015100	71015100	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgttgctgttggtatgctcCattgccccgttcagctcttc	9	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:71015100C>A	uc003dol.2	-	16	2153	c.1830G>T	c.(1828-1830)ATG>ATT	p.M610I	FOXP1_uc003dom.2_Missense_Mutation_p.M534I|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.M609I|FOXP1_uc003dop.2_Missense_Mutation_p.M610I|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Missense_Mutation_p.M510I|FOXP1_uc003doj.2_Missense_Mutation_p.M510I|FOXP1_uc003dok.2_Missense_Mutation_p.M423I	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	610					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TGGTATGCTCCATTGCCCCGT	0.517			T	PAX5	ALL								A	71015100	C	A	71015100	3	1	27	1	0	0	0	0	1	0	0	0	6026	594	21	5	211	5	FOXP1	3	71015100	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1027988	71015100	127007330	1788	25739											
FOXP1	27086	broad.mit.edu	37	chr3	71026102	71026102	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaaagcttaccttccacgtgGccgcgttgcgtcggaagtaa	12	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:71026102G>C	uc003dol.2	-	13	1843	c.1520C>G	c.(1519-1521)GCC>GGC	p.A507G	FOXP1_uc003dom.2_Missense_Mutation_p.A431G|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.A506G|FOXP1_uc003dop.2_Missense_Mutation_p.A507G|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Missense_Mutation_p.A407G|FOXP1_uc003doj.2_Missense_Mutation_p.A407G|FOXP1_uc003dok.2_Missense_Mutation_p.A320G|FOXP1_uc003dor.1_Missense_Mutation_p.A284G	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	507	Fork-head.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTTCCACGTGGCCGCGTTGCG	0.433			T	PAX5	ALL								C	71026102	G	C	71026102	3	2	27	1	0	0	0	0	1	0	0	0	6026	1203	42	5	533	5	FOXP1	3	71026102	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	11002	71026102	126996328	1789	25740											
PPP4R2	151987	broad.mit.edu	37	chr3	73047252	73047252	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgagaagagggggaaaaaggAagtttgtcctgtcctggatc	15	5	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:73047252A>T	uc003dph.1	+	2	129	c.59A>T	c.(58-60)GAA>GTA	p.E20V	PPP4R2_uc003dpi.1_Missense_Mutation_p.E20V	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	20					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			lung(1)	1		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		GGGAAAAAGGAAGTTTGTCCT	0.378													T	73047252	A	T	73047252	3	4	27	1	0	0	0	0	1	0	0	0	12404	246	9	5	65	5	PPP4R2	3	73047252	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2021150	73047252	124975178	1790	25741											
PDZRN3	23024	broad.mit.edu	37	chr3	73432638	73432638	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattttcttattcctcttctTcatcatctttttgtggctca	4	10	7	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:73432638T>C	uc003dpl.1	-	10	3175	c.3079A>G	c.(3079-3081)AAG>GAG	p.K1027E	PDZRN3_uc011bgh.1_Missense_Mutation_p.K684E|PDZRN3_uc010hoe.1_Missense_Mutation_p.K725E|PDZRN3_uc011bgf.1_Missense_Mutation_p.K744E|PDZRN3_uc011bgg.1_Missense_Mutation_p.K747E	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1027							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTCCTCTTCTTCATCATCTTT	0.453													C	73432638	T	C	73432638	3	2	27	1	0	0	0	0	1	0	0	0	11709	1792	62	3	125	3	PDZRN3	3	73432638	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	385386	73432638	124589792	1791	25742											
CNTN3	5067	broad.mit.edu	37	chr3	74383974	74383974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagatgatgtctaacagcGggtcatgttgtacctggcag	12	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:74383974G>A	uc003dpm.1	-	12	1660	c.1580C>T	c.(1579-1581)CCG>CTG	p.P527L		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	527	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GTCTAACAGCGGGTCATGTTG	0.418													A	74383974	G	A	74383974	3	1	27	1	0	0	0	0	1	0	0	0	3642	1116	39	1	1550	1	CNTN3	3	74383974	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	951336	74383974	123638456	1792	25743											
CNTN3	5067	broad.mit.edu	37	chr3	74420395	74420395	+	Missense_Mutation	SNP	T	T	G													agagcccagcactcgggcatTtgtcaccatacttgtcacca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:74420395T>G	uc003dpm.1	-	5	690	c.610A>C	c.(610-612)AAT>CAT	p.N204H		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	204	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACTCGGGCATTTGTCACCATA	0.502													G	74420395	T	G	74420395	3	3	27	1	0	0	0	0	1	0	0	0	3642	1841	64	5	2548	5	CNTN3	3	74420395	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	36421	74420395	123602035	1793	25744	87	2									
CNTN3	5067	broad.mit.edu	37	chr3	74420400	74420400	+	Missense_Mutation	SNP	A	A	G													ccagcactcgggcatttgtcAccatacttgtcaccacacat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:74420400A>G	uc003dpm.1	-	5	685	c.605T>C	c.(604-606)GTG>GCG	p.V202A		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	202	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGCATTTGTCACCATACTTGT	0.493													G	74420400	A	G	74420400	3	3	27	1	0	0	0	0	1	0	0	0	3642	159	6	3	2553	3	CNTN3	3	74420400	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	5	74420400	123602030	1794	25745	87	2									
ROBO2	6092	broad.mit.edu	37	chr3	77530337	77530337	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaccaatatggtgggagaaAgggacagtgacccagcagag	15	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:77530337A>G	uc003dpy.3	+	4	1277	c.634A>G	c.(634-636)AGG>GGG	p.R212G	ROBO2_uc003dpz.2_Missense_Mutation_p.R212G|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.R212G	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	212	Ig-like C2-type 2.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGTGGGAGAAAGGGACAGTGA	0.343													G	77530337	A	G	77530337	3	3	27	1	0	0	0	0	1	0	0	0	13514	63	3	3	650	3	ROBO2	3	77530337	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3109937	77530337	120492093	1795	25746											
ROBO2	6092	broad.mit.edu	37	chr3	77684140	77684140	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccactaaaaaacacaagggaGggcggatggaccaacaacca	10	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:77684140G>T	uc003dpy.3	+	24	4523	c.3880G>T	c.(3880-3882)GGG>TGG	p.G1294W	ROBO2_uc003dpz.2_Missense_Mutation_p.G1359W|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.G1298W	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1294	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACACAAGGGAGGGCGGATGGA	0.512													T	77684140	G	T	77684140	3	4	27	1	0	0	0	0	1	0	0	0	13514	1000	35	5	3976	5	ROBO2	3	77684140	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	153803	77684140	120338290	1796	25747											
ROBO1	6091	broad.mit.edu	37	chr3	78680329	78680329	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctttcatctacagaaatgTtgtactcttcgctattgctg	6	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:78680329T>C	uc003dqe.2	-	25	3816	c.3608A>G	c.(3607-3609)AAC>AGC	p.N1203S	ROBO1_uc003dqb.2_Missense_Mutation_p.N1164S|ROBO1_uc003dqc.2_Missense_Mutation_p.N1103S|ROBO1_uc003dqd.2_Missense_Mutation_p.N1158S|ROBO1_uc010hoh.2_Missense_Mutation_p.N395S|ROBO1_uc011bgl.1_Missense_Mutation_p.N775S	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1203	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TACAGAAATGTTGTACTCTTC	0.453													C	78680329	T	C	78680329	3	2	27	1	0	0	0	0	1	0	0	0	13513	1725	60	3	1375	3	ROBO1	3	78680329	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	996189	78680329	119342101	1797	25748											
ROBO1	6091	broad.mit.edu	37	chr3	78763600	78763600	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaccatattttctgcaAcacaagtgtatgaacccatg	6	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:78763600A>G	uc003dqe.2	-	8	1200	c.992T>C	c.(991-993)GTT>GCT	p.V331A	ROBO1_uc003dqb.2_Missense_Mutation_p.V292A|ROBO1_uc003dqc.2_Missense_Mutation_p.V292A|ROBO1_uc003dqd.2_Missense_Mutation_p.V292A|ROBO1_uc003dqf.1_Missense_Mutation_p.V7A	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	331	Extracellular (Potential).|Ig-like C2-type 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATTTTCTGCAACACAAGTGTA	0.398													G	78763600	A	G	78763600	3	3	27	1	0	0	0	0	1	0	0	0	13513	43	2	3	4072	3	ROBO1	3	78763600	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	83271	78763600	119258830	1798	25749											
POU1F1	5449	broad.mit.edu	37	chr3	87313466	87313466	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcgtctcactttaaattcAttggcaaacttttcaagttc	4	9	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:87313466A>G	uc003dqq.1	-	3	536	c.411T>C	c.(409-411)AAT>AAC	p.N137N	POU1F1_uc010hoj.1_Silent_p.N163N	NM_000306	NP_000297	P28069	PIT1_HUMAN	pituitary specific transcription factor 1	137	POU-specific.				negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|skin(1)	2	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		CTTTAAATTCATTGGCAAACT	0.358													G	87313466	A	G	87313466	2	3	27	1	0	0	0	0	0	0	0	1	12269	214	8	3		3	POU1F1	3	87313466	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	8549866	87313466	110708964	1799	25750											
HTR1F	3355	broad.mit.edu	37	chr3	88040099	88040099	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaatttgttcccttgcagTcacagattttcttgtggctg	8	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:88040099T>C	uc003dqr.2	+	2	358	c.200T>C	c.(199-201)GTC>GCC	p.V67A		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	67	Helical; Name=2; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TCCCTTGCAGTCACAGATTTT	0.463													C	88040099	T	C	88040099	3	2	27	1	0	0	0	0	1	0	0	0	7440	1667	58	3	202	3	HTR1F	3	88040099	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	726633	88040099	109982331	1800	25751											
ZNF654	55279	broad.mit.edu	37	chr3	88188521	88188521	+	Frame_Shift_Del	DEL	A	A	-													ggcatgcccaggctcatcagAaaaaaggcagttttgcatgt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:88188520_88188520GA>G	uc003dqv.3	+	0	259	c.60_60GA>G	c.(58-60)cagfs	p.Q20fs	CGGBP1_uc003dqu.3_Intron	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN	Homo sapiens zinc finger protein 654 (ZNF654), mRNA.	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGGCTCATCAGAAAAAAGGCA	0.388													-	88188521	A	-	88188521	7	5	27	1	0	1	0	1	0	0	0	0	18064	247	9	0	63	0	ZNF654	3	88188521	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	148422	88188521	109833909	1801	25752											
C3orf38	285237	broad.mit.edu	37	chr3	88205231	88205231	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcctaggagaagaattcTgtcattggttctttggactt	11	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:88205231T>C	uc003dqw.2	+	4	747	c.436T>C	c.(436-438)TGT>CGT	p.C146R		NM_173824	NP_776185	Q5JPI3	CC038_HUMAN	hypothetical protein LOC285237	146					apoptosis						0		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGAAGAATTCTGTCATTGGTT	0.368													C	88205231	T	C	88205231	3	2	27	1	0	0	0	0	1	0	0	0	2228	1580	55	3	446	3	C3orf38	3	88205231	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	16710	88205231	109817199	1802	25753											
EPHA3	2042	broad.mit.edu	37	chr3	89391057	89391057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatataaaacagtgtgagCcatgcagcccaaatgtccgc	10	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:89391057C>T	uc003dqy.2	+	5	1348	c.1123C>T	c.(1123-1125)CCA>TCA	p.P375S	EPHA3_uc003dqx.1_Missense_Mutation_p.P375S|EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	375	Extracellular (Potential).|Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACAGTGTGAGCCATGCAGCCC	0.488										TSP Lung(6;0.00050)			T	89391057	C	T	89391057	3	4	27	1	0	0	0	0	1	0	0	0	5168	739	26	2	1141	2	EPHA3	3	89391057	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1185826	89391057	108631373	1803	25754											
EPHA3	2042	broad.mit.edu	37	chr3	89498434	89498434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagcctaccgcaagttcacGtcagccagcgatgtatggag	11	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:89498434G>A	uc003dqy.2	+	14	2631	c.2406G>A	c.(2404-2406)ACG>ACA	p.T802T	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	802	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCAAGTTCACGTCAGCCAGCG	0.438										TSP Lung(6;0.00050)			A	89498434	G	A	89498434	2	1	27	1	0	0	0	0	0	0	0	1	5168	1132	40	1		1	EPHA3	3	89498434	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	107377	89498434	108523996	1804	25755											
STX19	415117	broad.mit.edu	37	chr3	93733654	93733654	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgctttgctgctattgTgtcattgtatataaacatga	7	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:93733654T>C	uc003drh.1	-	2	717	c.460A>G	c.(460-462)ACA>GCA	p.T154A	ARL13B_uc003drc.2_Intron|ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Intron|ARL13B_uc003drf.2_Intron|ARL13B_uc003drg.2_Intron	NM_001001850	NP_001001850	Q8N4C7	STX19_HUMAN	syntaxin 19	154					intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity				0						GCTGCTATTGTGTCATTGTAT	0.378													C	93733654	T	C	93733654	3	2	27	1	0	0	0	0	1	0	0	0	15341	1696	59	3	428	3	STX19	3	93733654	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4235220	93733654	104288776	1805	25756											
EPHA6	285220	broad.mit.edu	37	chr3	96706583	96706583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttttcaagacattggggCgtgcattgccctggtttcag	13	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:96706583C>T	uc010how.1	+	3	903	c.860C>T	c.(859-861)GCG>GTG	p.A287V	EPHA6_uc003drp.1_Missense_Mutation_p.A287V	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	192	Ephrin-binding.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						GACATTGGGGCGTGCATTGCC	0.458													T	96706583	C	T	96706583	3	4	27	1	0	0	0	0	1	0	0	0	5171	768	27	1	870	1	EPHA6	3	96706583	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2972929	96706583	101315847	1806	25757											
EPHA6	285220	broad.mit.edu	37	chr3	96945107	96945107	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttttttctctttttacaGcttgcagaccaggattctat	6	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:96945107G>A	uc010how.1	+	4	1158	c.1115_splice	c.e4-1	p.A372_splice	EPHA6_uc003drp.1_Splice_Site_p.A372_splice	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a							integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						TCTTTTTACAGCTTGCAGACC	0.323													A	96945107	G	A	96945107	5	1	27	1	0	0	0	0	0	0	1	0	5171	985	34	2	1128	2	EPHA6	3	96945107	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	238524	96945107	101077323	1807	25758											
EPHA6	285220	broad.mit.edu	37	chr3	97251327	97251327	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagattttctaagagaagctAgtatcatgggccagtttgac	11	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:97251327A>G	uc010how.1	+	11	2369	c.2326A>G	c.(2326-2328)AGT>GGT	p.S776G	EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Missense_Mutation_p.S142G|EPHA6_uc003drs.3_Missense_Mutation_p.S168G|EPHA6_uc003drr.3_Missense_Mutation_p.S168G|EPHA6_uc003drt.2_Missense_Mutation_p.S168G|EPHA6_uc010hox.1_RNA	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	681	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						AAGAGAAGCTAGTATCATGGG	0.428													G	97251327	A	G	97251327	3	3	27	1	0	0	0	0	1	0	0	0	5171	420	15	3	2436	3	EPHA6	3	97251327	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	306220	97251327	100771103	1808	25759											
CRYBG3	131544	broad.mit.edu	37	chr3	97596328	97596328	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggatgacagctcacaggaggAcattctatctagtgaggttt	12	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:97596328A>T	uc003drx.2	+	1	510	c.446A>T	c.(445-447)GAC>GTC	p.D149V		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						TCACAGGAGGACATTCTATCT	0.433													T	97596328	A	T	97596328	3	4	27	1	0	0	0	0	1	0	0	0	3913	275	10	5	448	5	CRYBG3	3	97596328	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	345001	97596328	100426102	1809	25760											
MINA	84864	broad.mit.edu	37	chr3	97680537	97680537	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acattccagcttctcctggaTcctccaaagctcatccttta	4	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:97680537T>A	uc003drz.1	-	3	954	c.448A>T	c.(448-450)ATC>TTC	p.I150F	MINA_uc003dsa.1_Missense_Mutation_p.I150F|MINA_uc003dsb.1_Missense_Mutation_p.I150F|MINA_uc003dsc.1_Missense_Mutation_p.I150F|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_RNA	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen isoform a	150	JmjC.				ribosome biogenesis	cytoplasm|nucleolus				ovary(1)	1						TTCTCCTGGATCCTCCAAAGC	0.443													A	97680537	T	A	97680537	3	1	27	1	0	0	0	0	1	0	0	0	9586	1435	50	5	981	5	MINA	3	97680537	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	84209	97680537	100341893	1810	25761											
OR5AC2	81050	broad.mit.edu	37	chr3	97806045	97806045	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagagggaaataagactcTtgtgacagagtttgttctca	10	6	3	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:97806045T>C	uc011bgs.1	+	1	29	c.29T>C	c.(28-30)CTT>CCT	p.L10P		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC,	10	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AATAAGACTCTTGTGACAGAG	0.403													C	97806045	T	C	97806045	3	2	27	1	0	0	0	0	1	0	0	0	11141	1609	56	3	31	3	OR5AC2	3	97806045	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	125508	97806045	100216385	1811	25762											
OR5H6	79295	broad.mit.edu	37	chr3	97983222	97983222	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacagagtttgttctcacaGgatttttacatcaacctgac	7	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:97983222G>T	uc003dsi.1	+	1	94	c.94G>T	c.(94-96)GGA>TGA	p.G32*		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H,	32	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|large_intestine(1)	3						TGTTCTCACAGGATTTTTACA	0.393													T	97983222	G	T	97983222	4	4	27	1	0	0	0	0	0	1	0	0	11163	1001	35	5	96	5	OR5H6	3	97983222	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	177177	97983222	100039208	1812	25763											
OR5H6	79295	broad.mit.edu	37	chr3	97983483	97983483	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgcatggtacaattttttTcccttgtaaccactgtaacc	5	10	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:97983483T>C	uc003dsi.1	+	1	355	c.355T>C	c.(355-357)TCC>CCC	p.S119P		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|large_intestine(1)	3						ACAATTTTTTTCCCTTGTAAC	0.388													C	97983483	T	C	97983483	3	2	27	1	0	0	0	0	1	0	0	0	11163	1783	62	3	357	3	OR5H6	3	97983483	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	261	97983483	100038947	1813	25764											
OR5H2	79310	broad.mit.edu	37	chr3	98002053	98002053	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgcatgattcaattttttTcctttgcatttggtggaact	7	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:98002053T>C	uc003dsj.1	+	1	322	c.322T>C	c.(322-324)TCC>CCC	p.S108P		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	108	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3						TCAATTTTTTTCCTTTGCATT	0.363													C	98002053	T	C	98002053	3	2	27	1	0	0	0	0	1	0	0	0	11162	1783	62	3	324	3	OR5H2	3	98002053	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	18570	98002053	100020377	1814	25765											
OR5H2	79310	broad.mit.edu	37	chr3	98002164	98002164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgattatgaacaattcaCtatgcatacggctgttagcc	8	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:98002164C>T	uc003dsj.1	+	1	433	c.433C>T	c.(433-435)CTA>TTA	p.L145L		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	145	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3						GAACAATTCACTATGCATACG	0.378													T	98002164	C	T	98002164	2	4	27	1	0	0	0	0	0	0	0	1	11162	564	20	4		4	OR5H2	3	98002164	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	111	98002164	100020266	1815	25766											
OR5K2	402135	broad.mit.edu	37	chr3	98217044	98217044	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgtggattgaatcacAtcaaccacttttactgtgat	6	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:98217044A>G	uc011bgx.1	+	1	520	c.520A>G	c.(520-522)ATC>GTC	p.I174V		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K,	174	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						ATTGAATCACATCAACCACTT	0.413													G	98217044	A	G	98217044	3	3	27	1	0	0	0	0	1	0	0	0	11167	217	8	3	522	3	OR5K2	3	98217044	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	214880	98217044	99805386	1816	25767											
GPR15	2838	broad.mit.edu	37	chr3	98251463	98251463	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccaattaaactcatatggTccctggtggccttaattttc	6	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:98251463T>C	uc011bgy.1	+	1	586	c.586T>C	c.(586-588)TCC>CCC	p.S196P		NM_005290	NP_005281	P49685	GPR15_HUMAN	G protein-coupled receptor 15	196	Helical; Name=5; (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		ACTCATATGGTCCCTGGTGGC	0.473													C	98251463	T	C	98251463	3	2	27	1	0	0	0	0	1	0	0	0	6655	1667	58	3	588	3	GPR15	3	98251463	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	34419	98251463	99770967	1817	25768											
ST3GAL6	10402	broad.mit.edu	37	chr3	98510729	98510729	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attattgccatcacattggcGttttacatatgtcacgaagt	7	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:98510729G>A	uc003dsz.2	+	9	1037	c.801G>A	c.(799-801)GCG>GCA	p.A267A	ST3GAL6_uc003dsy.2_Silent_p.A181A|ST3GAL6_uc003dta.2_Silent_p.A149A|ST3GAL6_uc003dtb.2_Silent_p.A123A|ST3GAL6_uc003dtc.2_Silent_p.A267A|ST3GAL6_uc010hpd.2_Silent_p.A320A	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	alpha2,3-sialyltransferase VI	267	Lumenal (Potential).				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			ovary(1)	1						TCACATTGGCGTTTTACATAT	0.398													A	98510729	G	A	98510729	2	1	27	1	0	0	0	0	0	0	0	1	15218	1132	40	1		1	ST3GAL6	3	98510729	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	259266	98510729	99511701	1818	25769											
DCBLD2	131566	broad.mit.edu	37	chr3	98518401	98518401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggagagaagtgtattgtAagttcccactagtgggggag	15	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:98518401A>G	uc003dtd.2	-	16	2506	c.2143T>C	c.(2143-2145)TAC>CAC	p.Y715H	DCBLD2_uc003dte.2_Missense_Mutation_p.Y729H	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	715	Cytoplasmic (Potential).				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3						AGTGTATTGTAAGTTCCCACT	0.557													G	98518401	A	G	98518401	3	3	27	1	0	0	0	0	1	0	0	0	4281	362	13	3	188	3	DCBLD2	3	98518401	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	7672	98518401	99504029	1819	25770											
COL8A1	1295	broad.mit.edu	37	chr3	99513553	99513553	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggccctgttggactgccaGgagtgggcaaaccaggagtg	16	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:99513553G>T	uc003dtg.1	+	5	1053	c.808G>T	c.(808-810)GGA>TGA	p.G270*	COL8A1_uc003dth.1_Nonsense_Mutation_p.G270*|COL8A1_uc003dti.1_Nonsense_Mutation_p.G271*	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	270	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						TGGACTGCCAGGAGTGGGCAA	0.667													T	99513553	G	T	99513553	4	4	27	1	0	0	0	0	0	1	0	0	3705	1001	35	5	814	5	COL8A1	3	99513553	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	995152	99513553	98508877	1820	25771											
COL8A1	1295	broad.mit.edu	37	chr3	99514755	99514755	+	Frame_Shift_Del	DEL	G	G	-													gcataccacgttcactgcaaGgggggcaacgtgtgggttgc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:99514754_99514754AG>A	uc003dti.1	+	2	2140	c.2012_2012AG>A	c.(2011-2013)aagfs	p.K671fs	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Frame_Shift_Del_p.K670fs|COL8A1_uc003dth.1_Frame_Shift_Del_p.K670fs	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	670	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII		p.G671W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GTTCACTGCAAGGGGGGCAAC	0.522													-	99514755	G	-	99514755	7	5	27	1	0	1	0	1	0	0	0	0	3705	991	35	0	2016	0	COL8A1	3	99514755	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	1202	99514755	98507675	1821	25772											
FILIP1L	11259	broad.mit.edu	37	chr3	99567352	99567352	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggattttattatcctcagtAgttatcacacttgagctatt	6	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:99567352A>G	uc003dtm.2	-	5	3631	c.3168T>C	c.(3166-3168)ACT>ACC	p.T1056T	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Silent_p.T1056T|FILIP1L_uc010hpf.2_Silent_p.T632T|FILIP1L_uc010hpg.2_Silent_p.T816T|FILIP1L_uc003dtn.2_Silent_p.T816T|FILIP1L_uc003dtp.1_Silent_p.T816T	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	1056						cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						TATCCTCAGTAGTTATCACAC	0.483													G	99567352	A	G	99567352	2	3	27	1	0	0	0	0	0	0	0	1	5895	407	15	3		3	FILIP1L	3	99567352	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	52597	99567352	98455078	1822	25773											
FILIP1L	11259	broad.mit.edu	37	chr3	99568036	99568036	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgattctcactctcctcAtataactgaccattgatgac	4	12	4	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:99568036A>G	uc003dtm.2	-	5	2947	c.2484T>C	c.(2482-2484)TAT>TAC	p.Y828Y	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Silent_p.Y828Y|FILIP1L_uc010hpf.2_Silent_p.Y404Y|FILIP1L_uc010hpg.2_Silent_p.Y588Y|FILIP1L_uc003dtn.2_Silent_p.Y588Y|FILIP1L_uc003dtp.1_Silent_p.Y588Y	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	828						cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						CACTCTCCTCATATAACTGAC	0.433													G	99568036	A	G	99568036	2	3	27	1	0	0	0	0	0	0	0	1	5895	224	8	3		3	FILIP1L	3	99568036	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	684	99568036	98454394	1823	25774											
FILIP1L	11259	broad.mit.edu	37	chr3	99569857	99569857	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggtggtgacccttttctcCttttcttgctccttctcctc	7	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:99569857C>A	uc003dtm.2	-	5	1126	c.663G>T	c.(661-663)AAG>AAT	p.K221N	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.K221N|FILIP1L_uc010hpf.2_Translation_Start_Site|FILIP1L_uc010hpg.2_Translation_Start_Site|FILIP1L_uc003dtn.2_Translation_Start_Site|FILIP1L_uc003dtp.1_Translation_Start_Site	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	221	Potential.					cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						CCCTTTTCTCCTTTTCTTGCT	0.423													A	99569857	C	A	99569857	3	1	27	1	0	0	0	0	1	0	0	0	5895	680	24	5	2773	5	FILIP1L	3	99569857	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1821	99569857	98452573	1824	25775											
NIT2	56954	broad.mit.edu	37	chr3	100067663	100067663	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggctgccagctgttggtAtatccaggagcttttaatct	10	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:100067663A>C	uc003dtv.2	+	7	596	c.522A>C	c.(520-522)GTA>GTC	p.V174V	NIT2_uc011bha.1_Missense_Mutation_p.Y143S	NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	174	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			ovary(1)	1						AGCTGTTGGTATATCCAGGAG	0.498													C	100067663	A	C	100067663	2	2	27	1	0	0	0	0	0	0	0	1	10434	436	16	5		5	NIT2	3	100067663	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	497806	100067663	97954767	1825	25776											
TOMM70A	9868	broad.mit.edu	37	chr3	100086917	100086917	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaatagttcccatggtttcAtaggcaaaatcacatttatt	5	8	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:100086917A>G	uc003dtw.2	-	11	2076	c.1644T>C	c.(1642-1644)TAT>TAC	p.Y548Y		NM_014820	NP_055635	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70	548	Cytoplasmic (Potential).|TPR 10.				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			ovary(1)	1						CCATGGTTTCATAGGCAAAAT	0.348													G	100086917	A	G	100086917	2	3	27	1	0	0	0	0	0	0	0	1	16359	224	8	3		3	TOMM70A	3	100086917	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	19254	100086917	97935513	1826	25777											
LNP1	348801	broad.mit.edu	37	chr3	100148609	100148609	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgatgatgatgtgtcTtttgccaaatggatgagcag	13	4	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:100148609T>C	uc003dtx.3	+	2	1316	c.36T>C	c.(34-36)TCT>TCC	p.S12S	LNP1_uc003dty.3_RNA|LNP1_uc011bhb.1_RNA	NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	12											0						ATGATGTGTCTTTTGCCAAAT	0.512													C	100148609	T	C	100148609	2	2	27	1	0	0	0	0	0	0	0	1	8863	1596	56	3		3	LNP1	3	100148609	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	61692	100148609	97873821	1827	25778											
GPR128	84873	broad.mit.edu	37	chr3	100413729	100413729	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaggctgcgtgtaaagatgTataatttcctcaggtcattg	11	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:100413729T>C	uc003duc.2	+	16	2546	c.2278T>C	c.(2278-2280)TAT>CAT	p.Y760H	GPR128_uc011bhc.1_Missense_Mutation_p.Y461H|GPR128_uc003dud.2_Missense_Mutation_p.Y283H	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	760	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4						TGTAAAGATGTATAATTTCCT	0.468													C	100413729	T	C	100413729	3	2	27	1	0	0	0	0	1	0	0	0	6641	1638	57	3	2340	3	GPR128	3	100413729	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	265120	100413729	97608701	1828	25779											
GPR128	84873	broad.mit.edu	37	chr3	100413823	100413823	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatcacactctctgaaagtgAcaatgcaaaggaaagcatct	7	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:100413823A>T	uc003duc.2	+	16	2640	c.2372A>T	c.(2371-2373)GAC>GTC	p.D791V	GPR128_uc011bhc.1_Missense_Mutation_p.D492V|GPR128_uc003dud.2_Missense_Mutation_p.D314V	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	791	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4						TCTGAAAGTGACAATGCAAAG	0.398													T	100413823	A	T	100413823	3	4	27	1	0	0	0	0	1	0	0	0	6641	275	10	5	2434	5	GPR128	3	100413823	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	94	100413823	97608607	1829	25780											
TFG	10342	broad.mit.edu	37	chr3	100467241	100467241	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccaagccaacctggggccTatcaaccaagaccaggtttt	8	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:100467241T>C	uc003due.2	+	8	1518	c.1069T>C	c.(1069-1071)TAT>CAT	p.Y357H	TFG_uc003duf.2_Missense_Mutation_p.Y357H|TFG_uc003dug.2_Missense_Mutation_p.Y353H|TFG_uc003duh.2_Missense_Mutation_p.Y353H|TFG_uc003dui.2_Missense_Mutation_p.Y357H	NM_006070	NP_006061	Q92734	TFG_HUMAN	TRK-fused	357					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/ALK(7)	haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1)	11						ACCTGGGGCCTATCAACCAAG	0.507			T	NTRK1|ALK	papillary thyroid|ALCL|NSCLC								C	100467241	T	C	100467241	3	2	27	1	0	0	0	0	1	0	0	0	15803	1522	53	3	1095	3	TFG	3	100467241	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	53418	100467241	97555189	1830	25781											
IMPG2	50939	broad.mit.edu	37	chr3	100964745	100964745	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatgaagagtcaagctgcTaacctctaaaacctctgggg	10	9	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:100964745T>C	uc003duq.1	-	12	1647	c.1444A>G	c.(1444-1446)AGC>GGC	p.S482G	IMPG2_uc011bhe.1_Missense_Mutation_p.S345G	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	482	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GTCAAGCTGCTAACCTCTAAA	0.498													C	100964745	T	C	100964745	3	2	27	1	0	0	0	0	1	0	0	0	7729	1522	53	3	2313	3	IMPG2	3	100964745	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	497504	100964745	97057685	1831	25782											
SENP7	57337	broad.mit.edu	37	chr3	101047497	101047497	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcatgtacctaccttttacAcattttctttggtactgaca	5	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:101047497A>G	uc003dut.2	-	21	2899	c.2788T>C	c.(2788-2790)TGT>CGT	p.C930R	SENP7_uc003duu.2_Missense_Mutation_p.C865R|SENP7_uc003duv.2_Missense_Mutation_p.C897R|SENP7_uc003duw.2_Missense_Mutation_p.C864R|SENP7_uc003dux.2_Missense_Mutation_p.C766R|SENP7_uc003dus.2_Missense_Mutation_p.C118R	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	930	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						TACCTTTTACACATTTTCTTT	0.269													G	101047497	A	G	101047497	3	3	27	1	0	0	0	0	1	0	0	0	14051	159	6	3	380	3	SENP7	3	101047497	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	82752	101047497	96974933	1832	25783											
PCNP	57092	broad.mit.edu	37	chr3	101311518	101311518	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcaataaaggaaagcAtgggttttctgataaccaga	8	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:101311518A>G	uc003dva.2	+	5	476	c.458A>G	c.(457-459)CAT>CGT	p.H153R	PCNP_uc003dvb.2_RNA|PCNP_uc003dvc.2_RNA|PCNP_uc003dvd.2_3'UTR	NM_020357	NP_065090	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear	153					cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding				0						AAAGGAAAGCATGGGTTTTCT	0.348													G	101311518	A	G	101311518	3	3	27	1	0	0	0	0	1	0	0	0	11589	217	8	3	476	3	PCNP	3	101311518	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	264021	101311518	96710912	1833	25784											
ZBTB11	27107	broad.mit.edu	37	chr3	101370037	101370037	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcctgaaatatgtgctacCtctactttaacagtttgaat	5	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:101370037C>A	uc003dve.3	-	11	3365	c.3135G>T	c.(3133-3135)GAG>GAT	p.E1045D		NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	1045					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TATGTGCTACCTCTACTTTAA	0.353													A	101370037	C	A	101370037	3	1	27	1	0	0	0	0	1	0	0	0	17521	680	24	5	30	5	ZBTB11	3	101370037	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	58519	101370037	96652393	1834	25785											
ZBTB11	27107	broad.mit.edu	37	chr3	101370373	101370373	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagtctctgtggaatttagtCatatgtttacggagtgttcg	11	5	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:101370373C>T	uc003dve.3	-	11	3029	c.2799G>A	c.(2797-2799)ATG>ATA	p.M933I		NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	933	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						GGAATTTAGTCATATGTTTAC	0.438													T	101370373	C	T	101370373	3	4	27	1	0	0	0	0	1	0	0	0	17521	826	29	4	366	4	ZBTB11	3	101370373	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	336	101370373	96652057	1835	25786											
FAM55C	91775	broad.mit.edu	37	chr3	101525942	101525942	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactccagtggacctgattgGgtaactgtgattcccaggag	12	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:101525942G>A	uc003dvn.2	+	6	1531	c.894G>A	c.(892-894)TGG>TGA	p.W298*	FAM55C_uc010hpn.2_Nonsense_Mutation_p.W298*	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	298						extracellular region				ovary(1)|pancreas(1)|skin(1)	3						GACCTGATTGGGTAACTGTGA	0.363													A	101525942	G	A	101525942	4	1	27	1	0	0	0	0	0	1	0	0	5586	1241	43	4	904	4	FAM55C	3	101525942	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	155569	101525942	96496488	1836	25787											
CBLB	868	broad.mit.edu	37	chr3	105378039	105378039	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcagtcctgcgcggtcgTggtttagggggtctggctgg	20	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:105378039T>C	uc003dwc.2	-	19	3046	c.2724A>G	c.(2722-2724)CCA>CCG	p.P908P	CBLB_uc003dwa.2_Silent_p.P123P|CBLB_uc011bhi.1_Silent_p.P886P	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	908	Pro-rich.|Interaction with SH3KBP1.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			lung(4)|ovary(3)|breast(1)|skin(1)	9						TGCGCGGTCGTGGTTTAGGGG	0.443			Mis S		AML								C	105378039	T	C	105378039	2	2	27	1	0	0	0	0	0	0	0	1	2701	1683	59	3		3	CBLB	3	105378039	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3852097	105378039	92644391	1837	25788											
CBLB	868	broad.mit.edu	37	chr3	105389115	105389115	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatcatagtcctgtgatgttCtgttagttttgacattttca	8	6	3	2	rs66833786		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:105389115C>T	uc003dwc.2	-	18	2973	c.2651G>A	c.(2650-2652)AGA>AAA	p.R884K	CBLB_uc003dwa.2_Missense_Mutation_p.R99K|CBLB_uc011bhi.1_Missense_Mutation_p.R862K	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	884	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			lung(4)|ovary(3)|breast(1)|skin(1)	9						CTGTGATGTTCTGTTAGTTTT	0.368			Mis S		AML								T	105389115	C	T	105389115	3	4	27	1	0	0	0	0	1	0	0	0	2701	913	32	4	305	4	CBLB	3	105389115	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	11076	105389115	92633315	1838	25789											
BBX	56987	broad.mit.edu	37	chr3	107463488	107463488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtttcaggtatcctctggCacatgcaggcctgatgtttc	10	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:107463488C>T	uc010hpr.2	+	8	1008	c.681C>T	c.(679-681)GGC>GGT	p.G227G	BBX_uc003dwk.3_Silent_p.G227G|BBX_uc003dwl.3_Silent_p.G227G|BBX_uc010hps.1_Silent_p.G248G|BBX_uc003dwm.3_Silent_p.G227G	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TATCCTCTGGCACATGCAGGC	0.338													T	107463488	C	T	107463488	2	4	27	1	0	0	0	0	0	0	0	1	1343	697	25	2		2	BBX	3	107463488	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2074373	107463488	90558942	1839	25790											
HHLA2	11148	broad.mit.edu	37	chr3	108072388	108072388	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagaggggatccgaagtcgTaatacactggaagtatcaag	13	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:108072388T>C	uc003dwy.3	+	4	346	c.179T>C	c.(178-180)GTA>GCA	p.V60A	HHLA2_uc011bhl.1_Intron|HHLA2_uc010hpu.2_Missense_Mutation_p.V60A|HHLA2_uc003dwz.2_Missense_Mutation_p.V60A	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2 precursor	60						integral to membrane				ovary(1)	1						TCCGAAGTCGTAATACACTGG	0.393													C	108072388	T	C	108072388	3	2	27	1	0	0	0	0	1	0	0	0	7095	1638	57	3	185	3	HHLA2	3	108072388	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	608900	108072388	89950042	1840	25791											
KIAA1524	57650	broad.mit.edu	37	chr3	108300296	108300296	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgtttgaacagaaagattgTgccgacaaagatttgccaat	10	7	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:108300296T>C	uc003dxb.3	-	5	784	c.515A>G	c.(514-516)CAC>CGC	p.H172R	KIAA1524_uc003dxc.1_Missense_Mutation_p.H13R|KIAA1524_uc010hpw.1_Missense_Mutation_p.H13R	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	172						cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3						AGAAAGATTGTGCCGACAAAG	0.299													C	108300296	T	C	108300296	3	2	27	1	0	0	0	0	1	0	0	0	8239	1696	59	3	2270	3	KIAA1524	3	108300296	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	227908	108300296	89722134	1841	25792											
DZIP3	9666	broad.mit.edu	37	chr3	108366943	108366943	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaatcttcaacagaatctcTtaaagatctccaggaagtat	6	8	4	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:108366943T>C	uc003dxd.2	+	16	2368	c.1946T>C	c.(1945-1947)CTT>CCT	p.L649P	DZIP3_uc003dxf.1_Missense_Mutation_p.L649P|DZIP3_uc011bhm.1_Missense_Mutation_p.L100P|DZIP3_uc003dxe.1_Missense_Mutation_p.L649P|DZIP3_uc003dxg.1_Missense_Mutation_p.L372P	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	649	Potential.				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						ACAGAATCTCTTAAAGATCTC	0.353													C	108366943	T	C	108366943	3	2	27	1	0	0	0	0	1	0	0	0	4865	1609	56	3	2004	3	DZIP3	3	108366943	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	66647	108366943	89655487	1842	25793											
DZIP3	9666	broad.mit.edu	37	chr3	108392929	108392929	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctcaaaaacctgtaggtgtAtttcttacagtgtcgtaggg	10	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:108392929A>T	uc003dxd.2	+	24	3016	c.2594A>T	c.(2593-2595)TAT>TTT	p.Y865F	DZIP3_uc003dxf.1_Missense_Mutation_p.Y865F|DZIP3_uc011bhm.1_Missense_Mutation_p.Y316F	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	865					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CTGTAGGTGTATTTCTTACAG	0.398													T	108392929	A	T	108392929	3	4	27	1	0	0	0	0	1	0	0	0	4865	449	16	5	2684	5	DZIP3	3	108392929	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	25986	108392929	89629501	1843	25794											
GUCA1C	9626	broad.mit.edu	37	chr3	108639352	108639352	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcatacagcttaaaataCcattttaatttttgctccat	3	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:108639352C>T	uc003dxj.2	-	2	353	c.285G>A	c.(283-285)TGG>TGA	p.W95*	GUCA1C_uc003dxk.2_Nonsense_Mutation_p.W95*	NM_005459	NP_005450	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	95	EF-hand 3.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0						GCTTAAAATACCATTTTAATT	0.323													T	108639352	C	T	108639352	4	4	27	1	0	0	0	0	0	1	0	0	6890	508	18	4	356	4	GUCA1C	3	108639352	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	246423	108639352	89383078	1844	25795											
DPPA2	151871	broad.mit.edu	37	chr3	109031524	109031525	+	Frame_Shift_Ins	INS	-	-	C													ctttcctcatcatctacttcINScccctccaagaaattctgga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:109031523_109031524T>TC	uc003dxo.3	-	2	296_297	c.49_50A>GA	c.(49-51)gaafs	p.E17fs		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	17						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATCATCTACTTCCCCCTCCAAG	0.401													C	109031525	-	C	109031524	7	5	27	1	0	1	1	0	0	0	0	0	4734	864	30	0	871	0	DPPA2	3	109031524	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	392172	109031524	88990906	1845	25796											
PVRL3	25945	broad.mit.edu	37	chr3	110840996	110840996	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagtttcggtaacaggataTgatggaaattggtttgtagg	14	2	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:110840996T>C	uc003dxt.1	+	4	828	c.828T>C	c.(826-828)TAT>TAC	p.Y276Y	PVRL3_uc003dxu.1_Silent_p.Y253Y	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3 precursor	276	Extracellular (Potential).|Ig-like C2-type 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			upper_aerodigestive_tract(2)	2						TAACAGGATATGATGGAAATT	0.333													C	110840996	T	C	110840996	2	2	27	1	0	0	0	0	0	0	0	1	12841	1471	51	3		3	PVRL3	3	110840996	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1809472	110840996	87181434	1846	25797											
PHLDB2	90102	broad.mit.edu	37	chr3	111692618	111692618	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggagtaatatactttcAagccattgaagaagtctatt	8	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:111692618A>G	uc010hqa.2	+	17	3986	c.3575A>G	c.(3574-3576)CAA>CGA	p.Q1192R	PHLDB2_uc003dyc.2_Missense_Mutation_p.Q1176R|PHLDB2_uc003dyd.2_Missense_Mutation_p.Q1149R|PHLDB2_uc003dyg.2_Missense_Mutation_p.Q1192R|PHLDB2_uc003dyh.2_Missense_Mutation_p.Q1149R|PHLDB2_uc003dyi.2_Missense_Mutation_p.Q683R|PHLDB2_uc003dyj.2_Missense_Mutation_p.Q247R	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	1192	PH.					cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						ATATACTTTCAAGCCATTGAA	0.303													G	111692618	A	G	111692618	3	3	27	1	0	0	0	0	1	0	0	0	11852	130	5	3	3722	3	PHLDB2	3	111692618	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	851622	111692618	86329812	1847	25798											
SLC9A10	285335	broad.mit.edu	37	chr3	111873873	111873873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttctttcttcttgaatgcCttcttccaatgttccaactg	4	11	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:111873873C>T	uc003dyu.2	-	27	3610	c.3388G>A	c.(3388-3390)GGC>AGC	p.G1130S	SLC9A10_uc011bhu.1_Missense_Mutation_p.G393S|SLC9A10_uc010hqc.2_Missense_Mutation_p.G1082S	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	1130					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5						TCTTGAATGCCTTCTTCCAAT	0.318													T	111873873	C	T	111873873	3	4	27	1	0	0	0	0	1	0	0	0	14710	681	24	4	157	4	SLC9A10	3	111873873	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	181255	111873873	86148557	1848	25799											
SLC9A10	285335	broad.mit.edu	37	chr3	111921193	111921193	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtattccataccaaaaggtCttctgatgactcattctttt	5	9	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:111921193C>A	uc003dyu.2	-	18	2448	c.2226G>T	c.(2224-2226)AAG>AAT	p.K742N	SLC9A10_uc011bhu.1_Missense_Mutation_p.K5N|SLC9A10_uc010hqc.2_Missense_Mutation_p.K694N	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	742					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5						ACCAAAAGGTCTTCTGATGAC	0.328													A	111921193	C	A	111921193	3	1	27	1	0	0	0	0	1	0	0	0	14710	912	32	5	1355	5	SLC9A10	3	111921193	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	47320	111921193	86101237	1849	25800											
SLC35A5	55032	broad.mit.edu	37	chr3	112292735	112292735	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctatcttctctttctttctaGgccatggctgttatcttctc	5	12	6	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:112292735G>T	uc003dze.2	+	5	606	c.361_splice	c.e5-1	p.A121_splice		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5							Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1						TTTCTTTCTAGGCCATGGCTG	0.353													T	112292735	G	T	112292735	5	4	27	1	0	0	0	0	0	0	1	0	14574	1014	35	5	374	5	SLC35A5	3	112292735	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	371542	112292735	85729695	1850	25801											
SLC35A5	55032	broad.mit.edu	37	chr3	112299708	112299708	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atttcttcaatggctaatatCtataatgaaaagatactgaa	5	5	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:112299708C>T	uc003dze.2	+	6	989	c.744C>T	c.(742-744)ATC>ATT	p.I248I		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	248	Helical; (Potential).					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1						TGGCTAATATCTATAATGAAA	0.393													T	112299708	C	T	112299708	2	4	27	1	0	0	0	0	0	0	0	1	14574	903	32	4		4	SLC35A5	3	112299708	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6973	112299708	85722722	1851	25802											
CCDC80	151887	broad.mit.edu	37	chr3	112358355	112358355	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggagagctggaccccgaaGggaaacgcaacattcttgac	13	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:112358355G>T	uc003dzf.2	-	2	616	c.398C>A	c.(397-399)CCT>CAT	p.P133H	CCDC80_uc011bhv.1_Missense_Mutation_p.P133H|CCDC80_uc003dzg.2_Missense_Mutation_p.P133H|CCDC80_uc003dzh.1_Missense_Mutation_p.P133H	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	133										ovary(2)	2						GGACCCCGAAGGGAAACGCAA	0.592													T	112358355	G	T	112358355	3	4	27	1	0	0	0	0	1	0	0	0	2854	1000	35	5	2482	5	CCDC80	3	112358355	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	58647	112358355	85664075	1852	25803											
BOC	91653	broad.mit.edu	37	chr3	112999441	112999441	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaacaacaccccaatccatGgcttttatatctattatcga	3	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:112999441G>T	uc003dzx.2	+	14	2860	c.2239G>T	c.(2239-2241)GGC>TGC	p.G747C	BOC_uc003dzy.2_Missense_Mutation_p.G747C|BOC_uc003dzz.2_Missense_Mutation_p.G748C|BOC_uc003eab.2_Missense_Mutation_p.G448C|BOC_uc003eac.2_Missense_Mutation_p.G62C	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	747	Fibronectin type-III 3.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			CCCAATCCATGGCTTTTATAT	0.408													T	112999441	G	T	112999441	3	4	27	1	0	0	0	0	1	0	0	0	1481	1348	47	5	2285	5	BOC	3	112999441	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	641086	112999441	85022989	1853	25804											
WDR52	55779	broad.mit.edu	37	chr3	113098328	113098328	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatctctgctgctagcttgTtcctcctttcttcccttatt	4	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:113098328T>G	uc003eae.1	-	17	2169	c.2123A>C	c.(2122-2124)AAC>ACC	p.N708T		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	708	Glu-rich.									central_nervous_system(1)	1						TGCTAGCTTGTTCCTCCTTTC	0.274													G	113098328	T	G	113098328	3	3	27	1	0	0	0	0	1	0	0	0	17301	1725	60	5	3532	5	WDR52	3	113098328	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	98887	113098328	84924102	1854	25805											
WDR52	55779	broad.mit.edu	37	chr3	113115407	113115407	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacgttcataagctaaagcAgtgacacaagcagtatgggg	11	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:113115407A>G	uc003eae.1	-	14	1783	c.1737T>C	c.(1735-1737)ACT>ACC	p.T579T		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	579	WD 7.									central_nervous_system(1)	1						AAGCTAAAGCAGTGACACAAG	0.383													G	113115407	A	G	113115407	2	3	27	1	0	0	0	0	0	0	0	1	17301	175	7	3		3	WDR52	3	113115407	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	17079	113115407	84907023	1855	25806											
CCDC52	152185	broad.mit.edu	37	chr3	113169271	113169271	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctctatcaactgcagTagttttccacgagcctccat	7	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:113169271T>A	uc003eag.3	-	15	2526	c.2235A>T	c.(2233-2235)CTA>CTT	p.L745L	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Silent_p.L641L	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	745	Potential.				cell division|mitosis	centriole|spindle	protein binding				0						TCAACTGCAGTAGTTTTCCAC	0.448													A	113169271	T	A	113169271	2	1	27	1	0	0	0	0	0	0	0	1	2822	1625	57	5		5	CCDC52	3	113169271	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	53864	113169271	84853159	1856	25807											
KIAA2018	205717	broad.mit.edu	37	chr3	113375207	113375207	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgttttgactaattcgaaaAgcctgggactgcatactccg	10	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:113375207A>C	uc003eam.2	-	7	5733	c.5322T>G	c.(5320-5322)GCT>GCG	p.A1774A	KIAA2018_uc003eal.2_Silent_p.A1718A	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1774					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						TAATTCGAAAAGCCTGGGACT	0.433													C	113375207	A	C	113375207	2	2	27	1	0	0	0	0	0	0	0	1	8268	59	3	5		5	KIAA2018	3	113375207	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	205936	113375207	84647223	1857	25808											
KIAA2018	205717	broad.mit.edu	37	chr3	113375611	113375611	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatacttggttgggacaccaTttgctgctctaagcctcttg	9	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:113375611T>A	uc003eam.2	-	7	5329	c.4918A>T	c.(4918-4920)ATG>TTG	p.M1640L	KIAA2018_uc003eal.2_Missense_Mutation_p.M1584L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1640					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						TGGGACACCATTTGCTGCTCT	0.453													A	113375611	T	A	113375611	3	1	27	1	0	0	0	0	1	0	0	0	8268	1493	52	5	1823	5	KIAA2018	3	113375611	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	404	113375611	84646819	1858	25809											
KIAA2018	205717	broad.mit.edu	37	chr3	113375915	113375915	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttccatggtgctttggttgTaaggaaagctgagaggtctg	15	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:113375915T>C	uc003eam.2	-	7	5025	c.4614A>G	c.(4612-4614)TTA>TTG	p.L1538L	KIAA2018_uc003eal.2_Silent_p.L1482L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1538	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						GCTTTGGTTGTAAGGAAAGCT	0.502													C	113375915	T	C	113375915	2	2	27	1	0	0	0	0	0	0	0	1	8268	1635	57	3		3	KIAA2018	3	113375915	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	304	113375915	84646515	1859	25810											
KIAA2018	205717	broad.mit.edu	37	chr3	113377880	113377880	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggacttttctgctgacttAgatttcgatacagactcagg	9	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:113377880A>G	uc003eam.2	-	7	3060	c.2649T>C	c.(2647-2649)TCT>TCC	p.S883S	KIAA2018_uc003eal.2_Silent_p.S827S	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	883	Ser-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						CTGCTGACTTAGATTTCGATA	0.428													G	113377880	A	G	113377880	2	3	27	1	0	0	0	0	0	0	0	1	8268	407	15	3		3	KIAA2018	3	113377880	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1965	113377880	84644550	1860	25811											
KIAA2018	205717	broad.mit.edu	37	chr3	113378568	113378568	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgttggtttgacatggtaAcagaaaaagtttgtgttgag	13	3	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:113378568A>G	uc003eam.2	-	7	2372	c.1961T>C	c.(1960-1962)GTT>GCT	p.V654A	KIAA2018_uc003eal.2_Missense_Mutation_p.V598A	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	654					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						TGACATGGTAACAGAAAAAGT	0.403													G	113378568	A	G	113378568	3	3	27	1	0	0	0	0	1	0	0	0	8268	43	2	3	4780	3	KIAA2018	3	113378568	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	688	113378568	84643862	1861	25812											
QTRTD1	79691	broad.mit.edu	37	chr3	113798905	113798905	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgaatcctgaagagacacGtaagtcttttgaagtttatc	9	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:113798905G>T	uc003eay.2	+	8	1128	c.898_splice	c.e8+1	p.L300_splice	QTRTD1_uc003eaz.2_Splice_Site_p.L312_splice|QTRTD1_uc011biq.1_Splice_Site_p.L177_splice|QTRTD1_uc011bir.1_Splice_Site_p.L194_splice	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain						queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|skin(1)	2						GAAGAGACACGTAAGTCTTTT	0.378													T	113798905	G	T	113798905	5	4	27	1	0	0	0	0	0	0	1	0	12886	1159	40	5	921	5	QTRTD1	3	113798905	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	420337	113798905	84223525	1862	25813											
DRD3	1814	broad.mit.edu	37	chr3	113890743	113890743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgcgcagtaggagagggCatagtaggcatgtgggcggg	21	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:113890743C>T	uc003ebd.2	-	3	520	c.97G>A	c.(97-99)GCC>ACC	p.A33T	DRD3_uc010hqn.1_Missense_Mutation_p.A33T|DRD3_uc003ebb.1_Missense_Mutation_p.A33T|DRD3_uc003ebc.1_Missense_Mutation_p.A33T	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	33	Helical; Name=1.				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	p.A33D(1)		ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TAGGAGAGGGCATAGTAGGCA	0.617													T	113890743	C	T	113890743	3	4	27	1	0	0	0	0	1	0	0	0	4758	710	25	2	1129	2	DRD3	3	113890743	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	91838	113890743	84131687	1863	25814											
LSAMP	4045	broad.mit.edu	37	chr3	115738431	115738431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccatgcagaccagagtcaCgttgctgccctcattcacag	10	14	3	2	rs143751711		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:115738431C>T	uc003ebt.2	-	3	945	c.445G>A	c.(445-447)GTG>ATG	p.V149M	LSAMP_uc011bis.1_Missense_Mutation_p.V149M	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	149	Ig-like C2-type 2.				cell adhesion|nervous system development	anchored to membrane|plasma membrane					0		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		ACCAGAGTCACGTTGCTGCCC	0.473													T	115738431	C	T	115738431	3	4	27	1	0	0	0	0	1	0	0	0	9048	536	19	1	591	1	LSAMP	3	115738431	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1847688	115738431	82283999	1864	25815											
IGSF11	152404	broad.mit.edu	37	chr3	118621666	118621666	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actgaagtggctgactgactCtgtgtttctatgaacttttg	10	7	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:118621666C>A	uc003ebw.2	-	7	1244	c.997G>T	c.(997-999)GAG>TAG	p.E333*	IGSF11_uc011biv.1_Nonsense_Mutation_p.E305*|IGSF11_uc003ebx.2_Nonsense_Mutation_p.E309*|IGSF11_uc003eby.2_Nonsense_Mutation_p.E332*|IGSF11_uc003ebz.2_Nonsense_Mutation_p.E308*|IGSF11_uc010hqs.2_Nonsense_Mutation_p.E332*	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	333	Cytoplasmic (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0						CTGACTGACTCTGTGTTTCTA	0.463													A	118621666	C	A	118621666	4	1	27	1	0	0	0	0	0	1	0	0	7598	922	32	5	302	5	IGSF11	3	118621666	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2883235	118621666	79400764	1865	25816											
C3orf30	152405	broad.mit.edu	37	chr3	118867070	118867070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaaagggttatcatatacGcaatcaaacttatagaaggt	9	5	2	1	rs138537972		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:118867070G>A	uc003ecb.1	+	2	1482	c.1442G>A	c.(1441-1443)CGC>CAC	p.R481H	IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.R481H	NM_152539	NP_689752	Q96M34	CC030_HUMAN	hypothetical protein LOC152405	481										ovary(2)	2				GBM - Glioblastoma multiforme(114;0.222)		TATCATATACGCAATCAAACT	0.368													A	118867070	G	A	118867070	3	1	27	1	0	0	0	0	1	0	0	0	2220	1087	38	1	1448	1	C3orf30	3	118867070	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	245404	118867070	79155360	1866	25817											
ARHGAP31	57514	broad.mit.edu	37	chr3	119084197	119084197	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagctgtgcagaatttatAgagactcacggcatcgtgga	12	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:119084197A>G	uc003ecj.3	+	2	667	c.135A>G	c.(133-135)ATA>ATG	p.I45M		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	45	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						CAGAATTTATAGAGACTCACG	0.358													G	119084197	A	G	119084197	3	3	27	1	0	0	0	0	1	0	0	0	880	410	15	3	141	3	ARHGAP31	3	119084197	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	217127	119084197	78938233	1867	25818											
ARHGAP31	57514	broad.mit.edu	37	chr3	119120684	119120684	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	actaggaaaagaaaccaaggGaaatttcaatcgaacagtta	8	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:119120684G>C	uc003ecj.3	+	10	1617	c.1085G>C	c.(1084-1086)GGA>GCA	p.G362A		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	362					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						GAAACCAAGGGAAATTTCAAT	0.498													C	119120684	G	C	119120684	3	2	27	1	0	0	0	0	1	0	0	0	880	1174	41	5	1123	5	ARHGAP31	3	119120684	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	36487	119120684	78901746	1868	25819											
KTELC1	56983	broad.mit.edu	37	chr3	119207829	119207829	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcttgtggatcactgcaaAtacaagtaagatttgcagga	9	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:119207829A>G	uc003ecm.2	+	8	876	c.792A>G	c.(790-792)AAA>AAG	p.K264K	KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Silent_p.K105K	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor	264						endoplasmic reticulum lumen	UDP-glucosyltransferase activity				0				GBM - Glioblastoma multiforme(114;0.233)		ATCACTGCAAATACAAGTAAG	0.388													G	119207829	A	G	119207829	2	3	27	1	0	0	0	0	0	0	0	1	8583	98	4	3		3	KTELC1	3	119207829	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	87145	119207829	78814601	1869	25820											
ADPRH	141	broad.mit.edu	37	chr3	119306347	119306347	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaatgggaaaattacctaaaActtagagggattttggatgg	11	3	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:119306347A>T	uc003ecs.2	+	5	994	c.696A>T	c.(694-696)AAA>AAT	p.K232N	ADPRH_uc010hqv.2_Missense_Mutation_p.K232N|ADPRH_uc011bjb.1_Missense_Mutation_p.K125N|ADPRH_uc003ect.2_Missense_Mutation_p.K232N	NM_001125	NP_001116	P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	232					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			ovary(1)	1		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		ATTACCTAAAACTTAGAGGGA	0.408													T	119306347	A	T	119306347	3	4	27	1	0	0	0	0	1	0	0	0	331	40	2	5	706	5	ADPRH	3	119306347	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	98518	119306347	78716083	1870	25821											
GPR156	165829	broad.mit.edu	37	chr3	119912236	119912236	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaactgcccagtaaggtcAcaatgttcagattgggactg	11	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:119912236A>G	uc011bjf.1	-	3	269	c.269T>C	c.(268-270)GTG>GCG	p.V90A	GPR156_uc011bjg.1_Missense_Mutation_p.V90A	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	90	Helical; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.19)		CAGTAAGGTCACAATGTTCAG	0.473													G	119912236	A	G	119912236	3	3	27	1	0	0	0	0	1	0	0	0	6661	159	6	3	2203	3	GPR156	3	119912236	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	605889	119912236	78110194	1871	25822											
HGD	3081	broad.mit.edu	37	chr3	120369653	120369653	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtattgcagaggaaaatGtggatagcaagcccattgtt	13	5	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:120369653G>A	uc003edw.2	-	6	772	c.402C>T	c.(400-402)CAC>CAT	p.H134H	HGD_uc003edv.2_5'UTR	NM_000187	NP_000178	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	134					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding				0				GBM - Glioblastoma multiforme(114;0.158)		AGAGGAAAATGTGGATAGCAA	0.488													A	120369653	G	A	120369653	2	1	27	1	0	0	0	0	0	0	0	1	7084	1368	48	4		4	HGD	3	120369653	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	457417	120369653	77652777	1872	25823											
HGD	3081	broad.mit.edu	37	chr3	120393819	120393819	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcatagagattgtagggGcagacctgaggattattctg	13	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:120393819G>A	uc003edw.2	-	3	475	c.105C>T	c.(103-105)TGC>TGT	p.C35C		NM_000187	NP_000178	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	35					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding				0				GBM - Glioblastoma multiforme(114;0.158)		GATTGTAGGGGCAGACCTGAG	0.468													A	120393819	G	A	120393819	2	1	27	1	0	0	0	0	0	0	0	1	7084	1195	42	2		2	HGD	3	120393819	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	24166	120393819	77628611	1873	25824											
GTF2E1	2960	broad.mit.edu	37	chr3	120500128	120500128	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggctgtgcataaacgAgaagaggatgaagaggaaga	16	4	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:120500128A>G	uc003edz.3	+	5	1245	c.1131A>G	c.(1129-1131)CGA>CGG	p.R377R		NM_005513	NP_005504	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1,	377					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.159)		TGCATAAACGAGAAGAGGATG	0.537													G	120500128	A	G	120500128	2	3	27	1	0	0	0	0	0	0	0	1	6856	291	11	3		3	GTF2E1	3	120500128	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	106309	120500128	77522302	1874	25825											
STXBP5L	9515	broad.mit.edu	37	chr3	120924830	120924830	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaattcttaaagtagaatAcaagacctgcaaaaacaggt	6	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:120924830A>G	uc003eec.3	+	10	1078	c.938A>G	c.(937-939)TAC>TGC	p.Y313C	STXBP5L_uc011bji.1_Missense_Mutation_p.Y313C	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	313	WD 6.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		AAAGTAGAATACAAGACCTGC	0.269													G	120924830	A	G	120924830	3	3	27	1	0	0	0	0	1	0	0	0	15356	391	14	3	972	3	STXBP5L	3	120924830	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	424702	120924830	77097600	1875	25826											
POLQ	10721	broad.mit.edu	37	chr3	121192306	121192306	+	Frame_Shift_Del	DEL	G	G	-													ggtttttcatctctctatttGggggcaacttcaattccaaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:121192305_121192305TG>T	uc003eee.4	-	20	6564	c.6435_6435CA>A	c.(6433-6435)ccafs	p.P2145fs	POLQ_uc003eed.3_Frame_Shift_Del_p.P1317fs	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	2145					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCTCTCTATTTGGGGGCAACT	0.383								DNA polymerases (catalytic subunits)					-	121192306	G	-	121192306	7	5	27	1	0	1	0	1	0	0	0	0	12208	1348	47	0	1378	0	POLQ	3	121192306	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	267476	121192306	76830124	1876	25827											
POLQ	10721	broad.mit.edu	37	chr3	121263672	121263672	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccaaaactgtggtattttTccagaactgctttaggaagt	8	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:121263672T>A	uc003eee.3	-	2	374	c.245A>T	c.(244-246)GAA>GTA	p.E82V		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	82					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		GTGGTATTTTTCCAGAACTGC	0.398								DNA_polymerases_(catalytic_subunits)					A	121263672	T	A	121263672	3	1	27	1	0	0	0	0	1	0	0	0	12208	1783	62	5	7643	5	POLQ	3	121263672	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	71366	121263672	76758758	1877	25828											
FBXO40	51725	broad.mit.edu	37	chr3	121341232	121341232	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcacaatgggcggatgctgaTacactttggtcagatgcctg	13	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:121341232T>A	uc003eeg.2	+	3	1166	c.956T>A	c.(955-957)ATA>AAA	p.I319K		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	319					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)		CGGATGCTGATACACTTTGGT	0.473													A	121341232	T	A	121341232	3	1	27	1	0	0	0	0	1	0	0	0	5749	1406	49	5	962	5	FBXO40	3	121341232	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	77560	121341232	76681198	1878	25829											
GOLGB1	2804	broad.mit.edu	37	chr3	121383850	121383850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagccaatgataggagtccGggaagagtcccattcactgt	13	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:121383850G>A	uc003eei.3	-	21	9694	c.9568C>T	c.(9568-9570)CGG>TGG	p.R3190W	GOLGB1_uc010hrc.2_Missense_Mutation_p.R3200W|GOLGB1_uc003eej.3_Missense_Mutation_p.R3156W	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	3190	Cytoplasmic (Potential).				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		ATAGGAGTCCGGGAAGAGTCC	0.478													A	121383850	G	A	121383850	3	1	27	1	0	0	0	0	1	0	0	0	6565	1115	39	1	219	1	GOLGB1	3	121383850	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	42618	121383850	76638580	1879	25830											
GOLGB1	2804	broad.mit.edu	37	chr3	121416590	121416590	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatttcaaccccaagagaaAacttctcttcattaagctga	4	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:121416590A>G	uc003eei.3	-	13	2891	c.2765T>C	c.(2764-2766)TTT>TCT	p.F922S	GOLGB1_uc010hrc.2_Missense_Mutation_p.F927S|GOLGB1_uc003eej.3_Missense_Mutation_p.F888S|GOLGB1_uc011bjm.1_Missense_Mutation_p.F808S|GOLGB1_uc010hrd.1_Missense_Mutation_p.F886S	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	922	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		CCCAAGAGAAAACTTCTCTTC	0.378													G	121416590	A	G	121416590	3	3	27	1	0	0	0	0	1	0	0	0	6565	14	1	3	7054	3	GOLGB1	3	121416590	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	32740	121416590	76605840	1880	25831											
GOLGB1	2804	broad.mit.edu	37	chr3	121433709	121433709	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagttcacatttaattaccTgtgtgccctcattataaaca	5	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:121433709T>C	uc003eei.3	-	10	1514	c.1388A>G	c.(1387-1389)CAG>CGG	p.Q463R	GOLGB1_uc010hrc.2_Missense_Mutation_p.Q468R|GOLGB1_uc003eej.3_Missense_Mutation_p.Q429R|GOLGB1_uc011bjm.1_Missense_Mutation_p.Q349R|GOLGB1_uc010hrd.1_Missense_Mutation_p.Q427R	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	463	Potential.|Cytoplasmic (Potential).				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TTTAATTACCTGTGTGCCCTC	0.348													C	121433709	T	C	121433709	3	2	27	1	0	0	0	0	1	0	0	0	6565	1594	55	3	8443	3	GOLGB1	3	121433709	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	17119	121433709	76588721	1881	25832											
GOLGB1	2804	broad.mit.edu	37	chr3	121448715	121448715	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gataaaaacaatagtacctgTagagcttcatctttctgctg	7	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:121448715T>C	uc003eei.3	-	3	372	c.246A>G	c.(244-246)CTA>CTG	p.L82L	GOLGB1_uc010hrc.2_Silent_p.L82L|GOLGB1_uc003eej.3_Silent_p.L43L|GOLGB1_uc011bjm.1_Silent_p.L43L|GOLGB1_uc010hrd.1_Silent_p.L82L	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	82	Potential.|Cytoplasmic (Potential).				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		ATAGTACCTGTAGAGCTTCAT	0.383													C	121448715	T	C	121448715	2	2	27	1	0	0	0	0	0	0	0	1	6565	1625	57	3		3	GOLGB1	3	121448715	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	15006	121448715	76573715	1882	25833											
IQCB1	9657	broad.mit.edu	37	chr3	121526202	121526202	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtcacctgttgatctgTagtatattctgtagcatcat	7	9	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:121526202T>C	uc010hre.1	-	7	791	c.576A>G	c.(574-576)CTA>CTG	p.L192L	IQCB1_uc003eek.2_Silent_p.L192L|IQCB1_uc010hrf.1_RNA	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	IQ motif containing B1 isoform a	192					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding				0				GBM - Glioblastoma multiforme(114;0.0983)		TGTTGATCTGTAGTATATTCT	0.313													C	121526202	T	C	121526202	2	2	27	1	0	0	0	0	0	0	0	1	7803	1625	57	3		3	IQCB1	3	121526202	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	77487	121526202	76496228	1883	25834											
EAF2	55840	broad.mit.edu	37	chr3	121573569	121573569	+	Frame_Shift_Del	DEL	A	A	-													gtaactgttttcaaaggttcAaaaaaaccttacttaaaaga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:121573568_121573568CA>C	uc003een.3	+	2	335	c.236_236CA>C	c.(235-237)tcafs	p.S79fs	EAF2_uc003eeo.3_Intron	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	79	Necessary for interaction with ELL.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		TTCAAAGGTTCAAAAAAACCT	0.313													-	121573569	A	-	121573569	7	5	27	1	0	1	0	1	0	0	0	0	4876	117	5	0	247	0	EAF2	3	121573569	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	47367	121573569	76448861	1884	25835											
CASR	846	broad.mit.edu	37	chr3	121973127	121973127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcgagcccaaaagaaggggGacattatccttggggggctc	15	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:121973127G>A	uc003eev.3	+	2	463	c.91G>A	c.(91-93)GAC>AAC	p.D31N	CASR_uc003eew.3_Missense_Mutation_p.D31N	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	31	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AAAGAAGGGGGACATTATCCT	0.517													A	121973127	G	A	121973127	3	1	27	1	0	0	0	0	1	0	0	0	2682	1174	41	4	93	4	CASR	3	121973127	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	399558	121973127	76049303	1885	25836											
CASR	846	broad.mit.edu	37	chr3	122002928	122002928	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcctggtgtttgaggccaaGatccccaccagcttccaccg	9	16	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:122002928G>T	uc003eev.3	+	7	2499	c.2127G>T	c.(2125-2127)AAG>AAT	p.K709N	CASR_uc003eew.3_Missense_Mutation_p.K719N	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	709	Cytoplasmic (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TTGAGGCCAAGATCCCCACCA	0.582													T	122002928	G	T	122002928	3	4	27	1	0	0	0	0	1	0	0	0	2682	933	33	5	2179	5	CASR	3	122002928	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	29801	122002928	76019502	1886	25837											
CCDC58	131076	broad.mit.edu	37	chr3	122087062	122087062	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agttgttttaataacgttaaAtcgtccaaattcttttctct	4	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:122087062A>T	uc003eey.2	-	3	288	c.285T>A	c.(283-285)GAT>GAA	p.D95E		NM_001017928	NP_001017928	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58	95	Potential.										0				GBM - Glioblastoma multiforme(114;0.148)		ATAACGTTAAATCGTCCAAAT	0.363													T	122087062	A	T	122087062	3	4	27	1	0	0	0	0	1	0	0	0	2828	98	4	5	161	5	CCDC58	3	122087062	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	84134	122087062	75935368	1887	25838											
WDR5B	54554	broad.mit.edu	37	chr3	122133953	122133953	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtctcatcaaaagatcccgaGattataaggttggatggcgg	12	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:122133953G>A	uc003efa.1	-	1	930	c.423C>T	c.(421-423)ATC>ATT	p.I141I		NM_019069	NP_061942	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	141	WD 3.									ovary(3)	3				GBM - Glioblastoma multiforme(114;0.0704)		AAGATCCCGAGATTATAAGGT	0.388													A	122133953	G	A	122133953	2	1	27	1	0	0	0	0	0	0	0	1	17306	932	33	4		4	WDR5B	3	122133953	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	46891	122133953	75888477	1888	25839											
PARP9	83666	broad.mit.edu	37	chr3	122259515	122259515	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgagacaaaatgtcatgTtcctttctcccaaggtacag	8	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:122259515T>G	uc010hri.2	-	8	1819	c.1674A>C	c.(1672-1674)GAA>GAC	p.E558D	PARP9_uc003eff.3_Missense_Mutation_p.E523D|PARP9_uc011bjs.1_Missense_Mutation_p.E523D|PARP9_uc003efg.2_Missense_Mutation_p.E103D|PARP9_uc003efi.2_Missense_Mutation_p.E523D|PARP9_uc003efh.2_Missense_Mutation_p.E558D|PARP9_uc003efj.2_Missense_Mutation_p.E523D	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	558					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)|pancreas(1)|prostate(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0519)		AAATGTCATGTTCCTTTCTCC	0.448													G	122259515	T	G	122259515	3	3	27	1	0	0	0	0	1	0	0	0	11466	1722	60	5	959	5	PARP9	3	122259515	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	125562	122259515	75762915	1889	25840											
DTX3L	151636	broad.mit.edu	37	chr3	122287953	122287953	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttataaaggagaaaggaggCgaattaactctccttgggac	11	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:122287953C>T	uc003efk.2	+	3	1106	c.1017C>T	c.(1015-1017)GGC>GGT	p.G339G	DTX3L_uc010hrj.2_Intron	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	deltex 3-like	339					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)	4				GBM - Glioblastoma multiforme(114;0.0459)		AGAAAGGAGGCGAATTAACTC	0.388													T	122287953	C	T	122287953	2	4	27	1	0	0	0	0	0	0	0	1	4796	755	27	1		1	DTX3L	3	122287953	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	28438	122287953	75734477	1890	25841											
PARP15	165631	broad.mit.edu	37	chr3	122335923	122335923	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgaaaatcggtgcaatTacttttcaggttgctactgg	10	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:122335923T>A	uc003efm.2	+	6	978	c.912T>A	c.(910-912)ATT>ATA	p.I304I	PARP15_uc003efn.2_Intron|PARP15_uc003efo.1_Silent_p.I51I|PARP15_uc003efp.1_Silent_p.I70I|PARP15_uc011bjt.1_Silent_p.I70I	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	282	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5				GBM - Glioblastoma multiforme(114;0.0531)		TCGGTGCAATTACTTTTCAGG	0.388													A	122335923	T	A	122335923	2	1	27	1	0	0	0	0	0	0	0	1	11459	1742	61	5		5	PARP15	3	122335923	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	47970	122335923	75686507	1891	25842											
PARP14	54625	broad.mit.edu	37	chr3	122418877	122418877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactggaccatttactcacGgagtgcccagagatagagat	10	10	1	2	rs144051474	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:122418877G>A	uc003efq.3	+	6	1535	c.1476G>A	c.(1474-1476)ACG>ACA	p.T492T	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Silent_p.T209T|PARP14_uc003efs.1_Silent_p.T209T	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		ATTTACTCACGGAGTGCCCAG	0.403													A	122418877	G	A	122418877	2	1	27	1	0	0	0	0	0	0	0	1	11458	1103	39	1		1	PARP14	3	122418877	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	82954	122418877	75603553	1892	25843											
PARP14	54625	broad.mit.edu	37	chr3	122437464	122437464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatattaacatttccctggAccataagagacctttgatta	5	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:122437464A>G	uc003efq.3	+	14	4525	c.4466A>G	c.(4465-4467)GAC>GGC	p.D1489G	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.D1206G|PARP14_uc003efs.1_Missense_Mutation_p.D1206G	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		ATTTCCCTGGACCATAAGAGA	0.403													G	122437464	A	G	122437464	3	3	27	1	0	0	0	0	1	0	0	0	11458	275	10	3	4520	3	PARP14	3	122437464	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	18587	122437464	75584966	1893	25844											
SEMA5B	54437	broad.mit.edu	37	chr3	122641228	122641228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgctcatcaggaagaggcGctgcgcgtcctgcaggctgc	14	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:122641228G>A	uc003efz.1	-	11	1643	c.1339C>T	c.(1339-1341)CGC>TGC	p.R447C	SEMA5B_uc011bju.1_Missense_Mutation_p.R389C|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R447C|SEMA5B_uc010hro.1_Missense_Mutation_p.R389C|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	447	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		AGGAAGAGGCGCTGCGCGTCC	0.701													A	122641228	G	A	122641228	3	1	27	1	0	0	0	0	1	0	0	0	14038	1087	38	1	2168	1	SEMA5B	3	122641228	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	203764	122641228	75381202	1894	25845											
PDIA5	10954	broad.mit.edu	37	chr3	122808124	122808124	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacccggaataatgtactggTgctttactccaaatctggtg	9	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:122808124T>C	uc003egc.1	+	2	208	c.152T>C	c.(151-153)GTG>GCG	p.V51A	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	51					cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)		AATGTACTGGTGCTTTACTCC	0.522													C	122808124	T	C	122808124	3	2	27	1	0	0	0	0	1	0	0	0	11671	1696	59	3	158	3	PDIA5	3	122808124	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	166896	122808124	75214306	1895	25846											
PDIA5	10954	broad.mit.edu	37	chr3	122869205	122869205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccttggtcatgttctacGccccttgtaagtagcttggg	10	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:122869205G>A	uc003egc.1	+	14	1323	c.1267G>A	c.(1267-1269)GCC>ACC	p.A423T	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	423	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)		CATGTTCTACGCCCCTTGTAA	0.577													A	122869205	G	A	122869205	3	1	27	1	0	0	0	0	1	0	0	0	11671	1087	38	1	1321	1	PDIA5	3	122869205	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	61081	122869205	75153225	1896	25847											
ADCY5	111	broad.mit.edu	37	chr3	123010064	123010064	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagaagttggcgatggaggCgaacatgaccgccacacact	14	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:123010064C>A	uc003egh.1	-	18	3223	c.3223G>T	c.(3223-3225)GCC>TCC	p.A1075S	ADCY5_uc003egg.1_Missense_Mutation_p.A733S	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	1075	Cytoplasmic (Potential).|Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		GCGATGGAGGCGAACATGACC	0.577													A	123010064	C	A	123010064	3	1	27	1	0	0	0	0	1	0	0	0	297	768	27	5	578	5	ADCY5	3	123010064	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	140859	123010064	75012366	1897	25848											
ADCY5	111	broad.mit.edu	37	chr3	123018977	123018977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccccatacatggcgttggCggtgaccagcaggtcggcgt	15	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:123018977C>T	uc003egh.1	-	15	2890	c.2890G>A	c.(2890-2892)GCC>ACC	p.A964T	ADCY5_uc003egg.1_Missense_Mutation_p.A597T|ADCY5_uc003egi.1_Missense_Mutation_p.A523T	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	964					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		ATGGCGTTGGCGGTGACCAGC	0.617													T	123018977	C	T	123018977	3	4	27	1	0	0	0	0	1	0	0	0	297	768	27	1	923	1	ADCY5	3	123018977	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	8913	123018977	75003453	1898	25849											
ADCY5	111	broad.mit.edu	37	chr3	123166319	123166319	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgatggccaggtggagggcGgacaggagcaccccgctgag	19	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:123166319G>A	uc003egh.1	-	1	1074	c.1074C>T	c.(1072-1074)TCC>TCT	p.S358S		NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	358					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		GGTGGAGGGCGGACAGGAGCA	0.677													A	123166319	G	A	123166319	2	1	27	1	0	0	0	0	0	0	0	1	297	1103	39	1		1	ADCY5	3	123166319	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	147342	123166319	74856111	1899	25850											
MYLK	4638	broad.mit.edu	37	chr3	123376176	123376176	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgatgctgtaggactgtacaGcactgcccccatcatatgag	10	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:123376176G>T	uc003ego.2	-	24	4367	c.4085C>A	c.(4084-4086)GCT>GAT	p.A1362D	MYLK_uc010hrr.2_Translation_Start_Site|MYLK_uc011bjv.1_Missense_Mutation_p.A162D|MYLK_uc011bjw.1_Missense_Mutation_p.A1362D|MYLK_uc003egp.2_Missense_Mutation_p.A1293D|MYLK_uc003egq.2_Missense_Mutation_p.A1362D|MYLK_uc003egr.2_Missense_Mutation_p.A1293D|MYLK_uc003egs.2_Missense_Mutation_p.A1186D	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1362	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGACTGTACAGCACTGCCCCC	0.572													T	123376176	G	T	123376176	3	4	27	1	0	0	0	0	1	0	0	0	10056	971	34	5	1703	5	MYLK	3	123376176	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	209857	123376176	74646254	1900	25851											
CCDC14	64770	broad.mit.edu	37	chr3	123634043	123634043	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttttccagagacagcaagTccgctgttgctgactagctg	10	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:123634043T>C	uc011bjx.1	-	13	2536	c.2445A>G	c.(2443-2445)GGA>GGG	p.G815G	CCDC14_uc003egv.3_Silent_p.G456G|CCDC14_uc003egx.3_Silent_p.G615G|CCDC14_uc010hrt.2_Silent_p.G774G|CCDC14_uc003egy.3_Silent_p.G615G|CCDC14_uc003egz.2_Intron	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	815						centrosome					0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		AGACAGCAAGTCCGCTGTTGC	0.428													C	123634043	T	C	123634043	2	2	27	1	0	0	0	0	0	0	0	1	2773	1654	58	3		3	CCDC14	3	123634043	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	257867	123634043	74388387	1901	25852											
KALRN	8997	broad.mit.edu	37	chr3	124132336	124132336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgacagcagagctagacgCctggaatgaagacttgcttc	13	9	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:124132336C>T	uc003ehg.2	+	14	2487	c.2360C>T	c.(2359-2361)GCC>GTC	p.A787V	KALRN_uc010hrv.1_Missense_Mutation_p.A787V|KALRN_uc003ehf.1_Missense_Mutation_p.A787V|KALRN_uc011bjy.1_Missense_Mutation_p.A787V|KALRN_uc003ehh.1_Missense_Mutation_p.A133V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	787					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GAGCTAGACGCCTGGAATGAA	0.542													T	124132336	C	T	124132336	3	4	27	1	0	0	0	0	1	0	0	0	7975	739	26	2	2414	2	KALRN	3	124132336	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	498293	124132336	73890094	1902	25853											
KALRN	8997	broad.mit.edu	37	chr3	124215187	124215187	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggatattgacagccaggGggatgggagcagccaaccag	17	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:124215187G>T	uc003ehg.2	+	33	4983	c.4856G>T	c.(4855-4857)GGG>GTG	p.G1619V	KALRN_uc010hrv.1_Missense_Mutation_p.G1610V|KALRN_uc003ehf.1_Missense_Mutation_p.G1619V|KALRN_uc011bjy.1_Missense_Mutation_p.G1610V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1619					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GACAGCCAGGGGGATGGGAGC	0.537													T	124215187	G	T	124215187	3	4	27	1	0	0	0	0	1	0	0	0	7975	1232	43	5	4986	5	KALRN	3	124215187	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	82851	124215187	73807243	1903	25854											
KALRN	8997	broad.mit.edu	37	chr3	124379771	124379771	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcccctacttgttaggActtcctgagatacagtgaga	9	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:124379771A>G	uc003ehg.2	+	44	6342	c.6215A>G	c.(6214-6216)GAC>GGC	p.D2072G	KALRN_uc003ehi.2_Missense_Mutation_p.D413G|KALRN_uc003ehk.2_Missense_Mutation_p.D375G|KALRN_uc011bjz.1_Missense_Mutation_p.D164G	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2071	DH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						ACTTGTTAGGACTTCCTGAGA	0.403													G	124379771	A	G	124379771	3	3	27	1	0	0	0	0	1	0	0	0	7975	289	10	3	6545	3	KALRN	3	124379771	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	164584	124379771	73642659	1904	25855											
HEG1	57493	broad.mit.edu	37	chr3	124728610	124728610	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catttgcagataaaggatccCtgagtattgttgcacatggc	10	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:124728610C>A	uc003ehs.3	-	8	3200	c.3132G>T	c.(3130-3132)CAG>CAT	p.Q1044H	HEG1_uc011bke.1_Missense_Mutation_p.Q1144H	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	1044	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						TAAAGGATCCCTGAGTATTGT	0.448													A	124728610	C	A	124728610	3	1	27	1	0	0	0	0	1	0	0	0	7044	680	24	5	1053	5	HEG1	3	124728610	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	348839	124728610	73293820	1905	25856											
HEG1	57493	broad.mit.edu	37	chr3	124731782	124731782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggatgggtcagcgagaGctgttttccagctgtagtct	13	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:124731782G>A	uc003ehs.3	-	6	2709	c.2641C>T	c.(2641-2643)CTC>TTC	p.L881F	HEG1_uc011bke.1_Missense_Mutation_p.L981F	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	881	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						GTCAGCGAGAGCTGTTTTCCA	0.507													A	124731782	G	A	124731782	3	1	27	1	0	0	0	0	1	0	0	0	7044	971	34	2	1552	2	HEG1	3	124731782	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3172	124731782	73290648	1906	25857											
SLC41A3	54946	broad.mit.edu	37	chr3	125734386	125734386	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttgtactgctgtttagaAacggttttgctcaagatgag	10	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:125734386A>G	uc003eij.2	-	8	1147	c.921T>C	c.(919-921)GTT>GTC	p.V307V	SLC41A3_uc003eii.2_Silent_p.V281V|SLC41A3_uc003eil.2_Silent_p.V307V|SLC41A3_uc003eik.2_Silent_p.V271V|SLC41A3_uc011bkh.1_Silent_p.V190V	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3 isoform 1	307						integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(114;0.167)		GCTGTTTAGAAACGGTTTTGC	0.493													G	125734386	A	G	125734386	2	3	27	1	0	0	0	0	0	0	0	1	14631	1	1	3		3	SLC41A3	3	125734386	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1002604	125734386	72288044	1907	25858											
SLC41A3	54946	broad.mit.edu	37	chr3	125741771	125741771	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcactatacagaccatcagCacccctgcagagagagagag	9	12	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:125741771C>G	uc003eij.2	-	6	829	c.603G>C	c.(601-603)GTG>GTC	p.V201V	SLC41A3_uc003eii.2_Silent_p.V175V|SLC41A3_uc003eil.2_Silent_p.V201V|SLC41A3_uc003eik.2_Silent_p.V165V|SLC41A3_uc011bkh.1_Silent_p.V84V|SLC41A3_uc010hsd.1_Silent_p.V216V	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3 isoform 1	201	Helical; (Potential).					integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(114;0.167)		AGACCATCAGCACCCCTGCAG	0.572													G	125741771	C	G	125741771	2	3	27	1	0	0	0	0	0	0	0	1	14631	697	25	5		5	SLC41A3	3	125741771	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	7385	125741771	72280659	1908	25859											
SLC41A3	54946	broad.mit.edu	37	chr3	125787043	125787043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtccagcctccgctgcCgggtctctgtcccatccatc	9	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:125787043C>T	uc003eij.2	-	2	246	c.20G>A	c.(19-21)CGG>CAG	p.R7Q	SLC41A3_uc003eil.2_Missense_Mutation_p.R7Q|SLC41A3_uc003eik.2_Missense_Mutation_p.R7Q|SLC41A3_uc011bkh.1_Intron|SLC41A3_uc010hsd.1_Missense_Mutation_p.R7Q	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3 isoform 1	7						integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(114;0.167)		CCTCCGCTGCCGGGTCTCTGT	0.627													T	125787043	C	T	125787043	3	4	27	1	0	0	0	0	1	0	0	0	14631	652	23	1	1844	1	SLC41A3	3	125787043	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	45272	125787043	72235387	1909	25860											
ALDH1L1	10840	broad.mit.edu	37	chr3	125850318	125850318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgtgtagacggcacccGcatccagggcctcaatggtg	13	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:125850318G>A	uc003eim.1	-	13	1722	c.1532C>T	c.(1531-1533)GCG>GTG	p.A511V	ALDH1L1_uc010hse.1_Intron|ALDH1L1_uc011bki.1_Missense_Mutation_p.A410V|ALDH1L1_uc003eio.2_Missense_Mutation_p.A213V	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	511	Aldehyde dehydrogenase.		A -> V (in a colorectal cancer sample; somatic mutation).		10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.A511V(1)		large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GACGGCACCCGCATCCAGGGC	0.642													A	125850318	G	A	125850318	3	1	27	1	0	0	0	0	1	0	0	0	494	1087	38	1	1220	1	ALDH1L1	3	125850318	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	63275	125850318	72172112	1910	25861											
ALDH1L1	10840	broad.mit.edu	37	chr3	125879768	125879768	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtggccctccttcctcaGgtggcagtaaacttcctggc	10	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:125879768G>T	uc003eim.1	-	2	245	c.55C>A	c.(55-57)CTG>ATG	p.L19M	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.L19M|ALDH1L1_uc010hsf.1_Translation_Start_Site|ALDH1L1_uc003eip.1_5'Flank|ALDH1L1_uc011bkj.1_Translation_Start_Site	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	19	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCCTTCCTCAGGTGGCAGTAA	0.552													T	125879768	G	T	125879768	3	4	27	1	0	0	0	0	1	0	0	0	494	991	35	5	2741	5	ALDH1L1	3	125879768	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	29450	125879768	72142662	1911	25862											
UROC1	131669	broad.mit.edu	37	chr3	126224593	126224593	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgactgcggccttggcctgaGccccactcattccgccgagc	11	17	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:126224593G>T	uc003eiz.1	-	8	796	c.764C>A	c.(763-765)GCT>GAT	p.A255D	UROC1_uc010hsi.1_Missense_Mutation_p.A255D	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	255					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		CTTGGCCTGAGCCCCACTCAT	0.502													T	126224593	G	T	126224593	3	4	27	1	0	0	0	0	1	0	0	0	17025	971	34	5	1502	5	UROC1	3	126224593	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	344825	126224593	71797837	1912	25863											
PLXNA1	5361	broad.mit.edu	37	chr3	126730880	126730880	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcaccctggccgcacggaAcctgccacagccacagtcag	9	18	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:126730880A>G	uc003ejg.2	+	9	2127	c.2123A>G	c.(2122-2124)AAC>AGC	p.N708S		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	731	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		GCCGCACGGAACCTGCCACAG	0.627													G	126730880	A	G	126730880	3	3	27	1	0	0	0	0	1	0	0	0	12119	43	2	3	2226	3	PLXNA1	3	126730880	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	506287	126730880	71291550	1913	25864											
PLXNA1	5361	broad.mit.edu	37	chr3	126735848	126735848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccgtgaaccccgaatcCgggccaagtatggaggcatt	12	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:126735848C>T	uc003ejg.2	+	16	3179	c.3175C>T	c.(3175-3177)CGG>TGG	p.R1059W		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1082	Extracellular (Potential).|IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		ACCCCGAATCCGGGCCAAGTA	0.637													T	126735848	C	T	126735848	3	4	27	1	0	0	0	0	1	0	0	0	12119	643	23	1	3306	1	PLXNA1	3	126735848	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4968	126735848	71286582	1914	25865											
PLXNA1	5361	broad.mit.edu	37	chr3	126749143	126749143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcttcagcacggcacacCggggctcagccctgccgctg	11	18	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:126749143C>T	uc003ejg.2	+	28	5054	c.5050C>T	c.(5050-5052)CGG>TGG	p.R1684W	PLXNA1_uc003ejh.2_Missense_Mutation_p.R352W	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1707	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CACGGCACACCGGGGCTCAGC	0.632													T	126749143	C	T	126749143	3	4	27	1	0	0	0	0	1	0	0	0	12119	643	23	1	5229	1	PLXNA1	3	126749143	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	13295	126749143	71273287	1915	25866											
MCM2	4171	broad.mit.edu	37	chr3	127327330	127327330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattctcctcgcagatctgGtggacagctgcaagccagga	11	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:127327330G>A	uc003ejp.2	+	7	1264	c.1207G>A	c.(1207-1209)GTG>ATG	p.V403M	MCM2_uc011bkm.1_Missense_Mutation_p.V273M|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.V287M	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	403					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						CGCAGATCTGGTGGACAGCTG	0.617													A	127327330	G	A	127327330	3	1	27	1	0	0	0	0	1	0	0	0	9386	1261	44	4	1233	4	MCM2	3	127327330	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	578187	127327330	70695100	1916	25867											
ABTB1	80325	broad.mit.edu	37	chr3	127395250	127395250	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaaatggaagggcaagagTgtcgtggttctcaggcaccc	13	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:127395250T>C	uc003ejt.2	+	5	544	c.456T>C	c.(454-456)AGT>AGC	p.S152S	ABTB1_uc003ejr.2_Silent_p.S10S|ABTB1_uc003ejs.2_Silent_p.S127S|ABTB1_uc003eju.2_Silent_p.S10S|ABTB1_uc010hsm.2_5'Flank	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	152	BTB 1.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0						AGGGCAAGAGTGTCGTGGTTC	0.582													C	127395250	T	C	127395250	2	2	27	1	0	0	0	0	0	0	0	1	102	1693	59	3		3	ABTB1	3	127395250	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	67920	127395250	70627180	1917	25868											
KBTBD12	166348	broad.mit.edu	37	chr3	127703079	127703079	+	Frame_Shift_Del	DEL	C	C	-													atgaatccccgagacctcatCcccccgccttcagatttggt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:127703078_127703078TC>T	uc010hsr.3	+	4	1832	c.1829_1829TC>T	c.(1828-1830)atcfs	p.I610fs	KBTBD12_uc003ejy.4_Frame_Shift_Del_p.I217fs|KBTBD12_uc010hsq.3_Non-coding_Transcript|KBTBD12_uc003eka.4_Frame_Shift_Del_p.I185fs	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	610										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CGAGACCTCATCCCCCCGCCT	0.527													-	127703079	C	-	127703079	7	5	27	1	0	1	0	1	0	0	0	0	7991	845	30	0	1848	0	KBTBD12	3	127703079	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	307829	127703079	70319351	1918	25869											
RUVBL1	8607	broad.mit.edu	37	chr3	127817786	127817786	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggacaggatatcttgtccCccctgcataagagaagactt	9	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:127817786C>T	uc003ekh.2	-	7	860	c.756G>A	c.(754-756)GGG>GGA	p.G252G	RUVBL1_uc003eke.2_5'UTR|RUVBL1_uc003ekf.2_Silent_p.G192G|RUVBL1_uc010hss.2_Silent_p.G252G	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	252					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		TATCTTGTCCCCCCTGCATAA	0.517													T	127817786	C	T	127817786	2	4	27	1	0	0	0	0	0	0	0	1	13752	610	22	4		4	RUVBL1	3	127817786	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	114707	127817786	70204644	1919	25870											
RUVBL1	8607	broad.mit.edu	37	chr3	127831737	127831737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacactacttaccaatggCcctgcggaagttctccatca	8	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:127831737C>T	uc003ekh.2	-	3	459	c.355G>A	c.(355-357)GCC>ACC	p.A119T	RUVBL1_uc003ekf.2_Missense_Mutation_p.A59T|RUVBL1_uc010hss.2_Missense_Mutation_p.A119T	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	119					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		TTACCAATGGCCCTGCGGAAG	0.512													T	127831737	C	T	127831737	3	4	27	1	0	0	0	0	1	0	0	0	13752	739	26	2	1051	2	RUVBL1	3	127831737	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	13951	127831737	70190693	1920	25871											
EEFSEC	60678	broad.mit.edu	37	chr3	127965841	127965841	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagagacaggcagcaaTtgataaaatgaccaagaaaa	10	5	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:127965841T>A	uc003eki.2	+	2	517	c.479T>A	c.(478-480)ATT>AAT	p.I160N	EEFSEC_uc003ekj.2_Missense_Mutation_p.I160N	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	160						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1						CAGGCAGCAATTGATAAAATG	0.483													A	127965841	T	A	127965841	3	1	27	1	0	0	0	0	1	0	0	0	4931	1493	52	5	485	5	EEFSEC	3	127965841	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	134104	127965841	70056589	1921	25872											
EEFSEC	60678	broad.mit.edu	37	chr3	128060406	128060406	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaacttctctcaagaaTaccttttccaggagcagtac	5	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:128060406T>A	uc003eki.2	+	5	1155	c.1117T>A	c.(1117-1119)TAC>AAC	p.Y373N	EEFSEC_uc003ekj.2_Missense_Mutation_p.Y318N	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	373						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1						CTCTCAAGAATACCTTTTCCA	0.517													A	128060406	T	A	128060406	3	1	27	1	0	0	0	0	1	0	0	0	4931	1406	49	5	1135	5	EEFSEC	3	128060406	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	94565	128060406	69962024	1922	25873											
EEFSEC	60678	broad.mit.edu	37	chr3	128077166	128077166	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccactggggaactgggcaTcatcgacagtgccttcggcc	13	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:128077166T>C	uc003eki.2	+	6	1588	c.1550T>C	c.(1549-1551)ATC>ACC	p.I517T	EEFSEC_uc003ekj.2_Intron	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	517						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1						GAACTGGGCATCATCGACAGT	0.567													C	128077166	T	C	128077166	3	2	27	1	0	0	0	0	1	0	0	0	4931	1435	50	3	1572	3	EEFSEC	3	128077166	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	16760	128077166	69945264	1923	25874											
KIAA1257	57501	broad.mit.edu	37	chr3	128707683	128707683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcaatgtggtaaaaacgaCgcatctttgtaacagaactg	8	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:128707683C>T	uc003elj.3	-	3	537	c.341G>A	c.(340-342)CGT>CAT	p.R114H	KIAA1257_uc003elg.1_Missense_Mutation_p.R114H|KIAA1257_uc003eli.3_Missense_Mutation_p.R2H	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	hypothetical protein LOC57501	114											0						GTAAAAACGACGCATCTTTGT	0.363													T	128707683	C	T	128707683	3	4	27	1	0	0	0	0	1	0	0	0	8218	536	19	1	912	1	KIAA1257	3	128707683	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	630517	128707683	69314747	1924	25875											
KIAA1257	57501	broad.mit.edu	37	chr3	128711957	128711957	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggcacgtcggagctgaaaGtgctggcaggctcagatgag	18	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:128711957G>T	uc003elj.3	-	2	387	c.191C>A	c.(190-192)ACT>AAT	p.T64N	KIAA1257_uc003elg.1_Missense_Mutation_p.T64N|KIAA1257_uc003eli.3_5'Flank	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	hypothetical protein LOC57501	64											0						GGAGCTGAAAGTGCTGGCAGG	0.587													T	128711957	G	T	128711957	3	4	27	1	0	0	0	0	1	0	0	0	8218	1029	36	5	1066	5	KIAA1257	3	128711957	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4274	128711957	69310473	1925	25876											
GP9	2815	broad.mit.edu	37	chr3	128780907	128780907	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgcacgcccgaggccctgCtgcaggtccgctgtgccagc	13	18	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:128780907C>T	uc003elm.2	+	3	512	c.325C>T	c.(325-327)CTG>TTG	p.L109L		NM_000174	NP_000165	P14770	GPIX_HUMAN	glycoprotein IX (platelet) precursor	109	LRRCT.|Extracellular (Potential).				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding				0					Quinine(DB00468)	CGAGGCCCTGCTGCAGGTCCG	0.701													T	128780907	C	T	128780907	2	4	27	1	0	0	0	0	0	0	0	1	6585	796	28	2		2	GP9	3	128780907	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	68950	128780907	69241523	1926	25877											
IFT122	55764	broad.mit.edu	37	chr3	129185775	129185775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagagagaatgaggatgcCgaggatgtcattgtcaacag	13	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:129185775C>T	uc003emm.2	+	8	812	c.606C>T	c.(604-606)GCC>GCT	p.A202A	IFT122_uc003eml.2_Silent_p.A253A|IFT122_uc003emn.2_Intron|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_Silent_p.A52A|IFT122_uc010htc.2_Intron|IFT122_uc011bky.1_Intron|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_Intron	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	202					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						ATGAGGATGCCGAGGATGTCA	0.433													T	129185775	C	T	129185775	2	4	27	1	0	0	0	0	0	0	0	1	7555	639	23	1		1	IFT122	3	129185775	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	404868	129185775	68836655	1927	25878											
IFT122	55764	broad.mit.edu	37	chr3	129195221	129195221	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctactttactaaaggcgagTacattttgctggggggttca	12	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:129195221T>C	uc003emm.2	+	10	1086	c.880T>C	c.(880-882)TAC>CAC	p.Y294H	IFT122_uc003eml.2_Missense_Mutation_p.Y345H|IFT122_uc003emn.2_Missense_Mutation_p.Y235H|IFT122_uc003emo.2_Missense_Mutation_p.Y183H|IFT122_uc003emp.2_Missense_Mutation_p.Y144H|IFT122_uc010htc.2_Missense_Mutation_p.Y286H|IFT122_uc011bky.1_Missense_Mutation_p.Y85H|IFT122_uc003emq.2_Missense_Mutation_p.Y134H|IFT122_uc003emr.2_Missense_Mutation_p.Y85H|IFT122_uc011bla.1_Missense_Mutation_p.Y85H|IFT122_uc011bkx.1_Missense_Mutation_p.Y134H|IFT122_uc011bkz.1_RNA	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	294	WD 5.				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						TAAAGGCGAGTACATTTTGCT	0.498													C	129195221	T	C	129195221	3	2	27	1	0	0	0	0	1	0	0	0	7555	1638	57	3	1075	3	IFT122	3	129195221	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9446	129195221	68827209	1928	25879											
IFT122	55764	broad.mit.edu	37	chr3	129195527	129195527	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtcggctgccaggacggcAccatttccttctaccagctt	10	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:129195527A>G	uc003emm.2	+	11	1236	c.1030A>G	c.(1030-1032)ACC>GCC	p.T344A	IFT122_uc003eml.2_Missense_Mutation_p.T395A|IFT122_uc003emn.2_Missense_Mutation_p.T285A|IFT122_uc003emo.2_Missense_Mutation_p.T233A|IFT122_uc003emp.2_Missense_Mutation_p.T194A|IFT122_uc010htc.2_Missense_Mutation_p.T336A|IFT122_uc011bky.1_Missense_Mutation_p.T135A|IFT122_uc003emq.2_Missense_Mutation_p.T184A|IFT122_uc003emr.2_Missense_Mutation_p.T135A|IFT122_uc011bla.1_Missense_Mutation_p.T135A|IFT122_uc011bkx.1_Missense_Mutation_p.T184A|IFT122_uc011bkz.1_RNA	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	344	WD 6.				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						CCAGGACGGCACCATTTCCTT	0.532													G	129195527	A	G	129195527	3	3	27	1	0	0	0	0	1	0	0	0	7555	159	6	3	1229	3	IFT122	3	129195527	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	306	129195527	68826903	1929	25880											
IFT122	55764	broad.mit.edu	37	chr3	129226602	129226602	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taccatgccatccatcgccaCacggtaaggtggctgggtca	11	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:129226602C>G	uc003emm.2	+	23	3089	c.2883C>G	c.(2881-2883)CAC>CAG	p.H961Q	IFT122_uc003eml.2_Missense_Mutation_p.H1012Q|IFT122_uc003emn.2_Missense_Mutation_p.H902Q|IFT122_uc003emo.2_Missense_Mutation_p.H851Q|IFT122_uc003emp.2_Missense_Mutation_p.H811Q|IFT122_uc010htc.2_Missense_Mutation_p.H954Q|IFT122_uc011bky.1_Missense_Mutation_p.H752Q|IFT122_uc003emq.2_Missense_Mutation_p.H801Q|IFT122_uc003emr.2_Missense_Mutation_p.H714Q|IFT122_uc011bla.1_Missense_Mutation_p.H735Q|IFT122_uc010hte.2_Missense_Mutation_p.H287Q|IFT122_uc003ems.2_Missense_Mutation_p.H343Q|IFT122_uc011bkx.1_Missense_Mutation_p.H802Q|IFT122_uc010htd.1_Missense_Mutation_p.H440Q	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	961					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						TCCATCGCCACACGGTAAGGT	0.552													G	129226602	C	G	129226602	3	3	27	1	0	0	0	0	1	0	0	0	7555	477	17	5	3133	5	IFT122	3	129226602	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	31075	129226602	68795828	1930	25881											
RHO	6010	broad.mit.edu	37	chr3	129249874	129249874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgccgcacccccactcGccggctggtccaggtaatgg	12	18	0	0	rs139731264		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:129249874G>A	uc003emt.2	+	2	612	c.517G>A	c.(517-519)GCC>ACC	p.A173T		NM_000539	NP_000530	P08100	OPSD_HUMAN	rhodopsin	173	Helical; Name=4; (Potential).				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding				0		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	ACCCCCACTCGCCGGCTGGTC	0.612													A	129249874	G	A	129249874	3	1	27	1	0	0	0	0	1	0	0	0	13330	1087	38	1	523	1	RHO	3	129249874	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	23272	129249874	68772556	1931	25882											
PLXND1	23129	broad.mit.edu	37	chr3	129279264	129279264	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgggctccgccagctcgTccgtaggcagcacctgggag	14	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:129279264T>C	uc003emx.2	-	31	5142	c.5042A>G	c.(5041-5043)GAC>GGC	p.D1681G	PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Missense_Mutation_p.D349G	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1681	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						CGCCAGCTCGTCCGTAGGCAG	0.652													C	129279264	T	C	129279264	3	2	27	1	0	0	0	0	1	0	0	0	12127	1667	58	3	759	3	PLXND1	3	129279264	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	29390	129279264	68743166	1932	25883											
TRH	7200	broad.mit.edu	37	chr3	129695921	129695921	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggccctgggaggcccctgTgggccccagggagcctatgg	18	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:129695921T>C	uc003enc.2	+	3	1152	c.591T>C	c.(589-591)TGT>TGC	p.C197C		NM_007117	NP_009048	P20396	TRH_HUMAN	thyrotropin-releasing hormone	197					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			ovary(1)	1						GAGGCCCCTGTGGGCCCCAGG	0.532													C	129695921	T	C	129695921	2	2	27	1	0	0	0	0	0	0	0	1	16475	1702	59	3		3	TRH	3	129695921	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	416657	129695921	68326509	1933	25884											
COL6A6	131873	broad.mit.edu	37	chr3	130281935	130281935	+	Frame_Shift_Del	DEL	T	T	-													ctgagtatgcagatgttgtgTttttggtggacagctctgat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:130281934_130281934GT>G	uc010htl.3	+	1	118	c.87_87GT>G	c.(85-87)gtgfs	p.V29fs		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	29	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGATGTTGTGTTTTTGGTGG	0.433													-	130281935	T	-	130281935	7	5	27	1	0	1	0	1	0	0	0	0	3703	1725	60	0	94	0	COL6A6	3	130281935	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	586014	130281935	67740495	1934	25885											
COL6A6	131873	broad.mit.edu	37	chr3	130285978	130285978	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtttatgctatcgggaTcaaggaggccaaccaaacac	10	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:130285978T>C	uc010htl.2	+	4	1746	c.1715T>C	c.(1714-1716)ATC>ACC	p.I572T		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	572	VWFA 3.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GCTATCGGGATCAAGGAGGCC	0.453													C	130285978	T	C	130285978	3	2	27	1	0	0	0	0	1	0	0	0	3703	1435	50	3	1729	3	COL6A6	3	130285978	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4043	130285978	67736452	1935	25886											
COL6A6	131873	broad.mit.edu	37	chr3	130300604	130300604	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccaatgccatggaaaaAtattctcccaagtttgagat	8	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:130300604A>C	uc010htl.2	+	8	3778	c.3747A>C	c.(3745-3747)AAA>AAC	p.K1249N	COL6A6_uc003eni.3_5'Flank	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1249	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						CCATGGAAAAATATTCTCCCA	0.428													C	130300604	A	C	130300604	3	2	27	1	0	0	0	0	1	0	0	0	3703	98	4	5	3777	5	COL6A6	3	130300604	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	14626	130300604	67721826	1936	25887											
COL6A6	131873	broad.mit.edu	37	chr3	130311908	130311908	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catatctatcttttcagggaGaagttggggaaaatggaatt	11	4	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:130311908G>T	uc010htl.2	+	15	4406	c.4375G>T	c.(4375-4377)GAA>TAA	p.E1459*	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1459	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						TTTTCAGGGAGAAGTTGGGGA	0.383													T	130311908	G	T	130311908	4	4	27	1	0	0	0	0	0	1	0	0	3703	943	33	5	4433	5	COL6A6	3	130311908	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	11304	130311908	67710522	1937	25888											
COL6A6	131873	broad.mit.edu	37	chr3	130311932	130311932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggggaaaatggaattgacGgattaaacggagaacaggta	14	3	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:130311932G>A	uc010htl.2	+	15	4430	c.4399G>A	c.(4399-4401)GGA>AGA	p.G1467R	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1467	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						TGGAATTGACGGATTAAACGG	0.383													A	130311932	G	A	130311932	3	1	27	1	0	0	0	0	1	0	0	0	3703	1117	39	1	4457	1	COL6A6	3	130311932	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	24	130311932	67710498	1938	25889											
COL6A6	131873	broad.mit.edu	37	chr3	130381128	130381128	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttatggtgtgaagtttgtgAagtcctttataaactcaatc	9	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:130381128A>G	uc010htl.2	+	34	6509	c.6478A>G	c.(6478-6480)AAG>GAG	p.K2160E	COL6A6_uc003eni.3_Missense_Mutation_p.K259E	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	2160	VWFA 9.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GAAGTTTGTGAAGTCCTTTAT	0.418													G	130381128	A	G	130381128	3	3	27	1	0	0	0	0	1	0	0	0	3703	247	9	3	6612	3	COL6A6	3	130381128	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	69196	130381128	67641302	1939	25890											
PIK3R4	30849	broad.mit.edu	37	chr3	130405096	130405096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgtccacagcaaaggaaGtgatgaggcccgactttaaa	12	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:130405096G>A	uc003enj.2	-	15	4015	c.3434C>T	c.(3433-3435)ACT>ATT	p.T1145I		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1145	WD 4.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						AGCAAAGGAAGTGATGAGGCC	0.478													A	130405096	G	A	130405096	3	1	27	1	0	0	0	0	1	0	0	0	11921	1029	36	4	666	4	PIK3R4	3	130405096	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	23968	130405096	67617334	1940	25891											
PIK3R4	30849	broad.mit.edu	37	chr3	130447430	130447430	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaatacacacagccgtgTtattccattttccatcaagg	6	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:130447430T>C	uc003enj.2	-	6	2265	c.1684A>G	c.(1684-1686)ACA>GCA	p.T562A		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	562					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						CACAGCCGTGTTATTCCATTT	0.393													C	130447430	T	C	130447430	3	2	27	1	0	0	0	0	1	0	0	0	11921	1725	60	3	2452	3	PIK3R4	3	130447430	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	42334	130447430	67575000	1941	25892											
ATP2C1	27032	broad.mit.edu	37	chr3	130672757	130672757	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccagctgcaactaatggAgatcttgcatcgagaagtaa	10	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:130672757A>G	uc003enl.2	+	9	846	c.624A>G	c.(622-624)GGA>GGG	p.G208G	ATP2C1_uc011blg.1_Silent_p.G242G|ATP2C1_uc011blh.1_Silent_p.G203G|ATP2C1_uc011bli.1_Silent_p.G242G|ATP2C1_uc003enk.2_Silent_p.G192G|ATP2C1_uc003enm.2_Silent_p.G208G|ATP2C1_uc003enn.2_Silent_p.G192G|ATP2C1_uc003eno.2_Silent_p.G208G|ATP2C1_uc003enp.2_Silent_p.G208G|ATP2C1_uc003enq.2_Silent_p.G208G|ATP2C1_uc003enr.2_Silent_p.G208G|ATP2C1_uc003ens.2_Silent_p.G208G|ATP2C1_uc003ent.2_Silent_p.G208G	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	208	Cytoplasmic (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CAACTAATGGAGATCTTGCAT	0.443									Hailey-Hailey_disease				G	130672757	A	G	130672757	2	3	27	1	0	0	0	0	0	0	0	1	1143	291	11	3		3	ATP2C1	3	130672757	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	225327	130672757	67349673	1942	25893											
ATP2C1	27032	broad.mit.edu	37	chr3	130682820	130682820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgttggttatagtttggCtgtagcagcaattcctgaag	11	5	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:130682820C>T	uc003enl.2	+	13	1127	c.905C>T	c.(904-906)GCT>GTT	p.A302V	ATP2C1_uc011blg.1_Missense_Mutation_p.A336V|ATP2C1_uc011blh.1_Missense_Mutation_p.A297V|ATP2C1_uc011bli.1_Missense_Mutation_p.A336V|ATP2C1_uc003enk.2_Missense_Mutation_p.A286V|ATP2C1_uc003enm.2_Missense_Mutation_p.A302V|ATP2C1_uc003enn.2_Missense_Mutation_p.A286V|ATP2C1_uc003eno.2_Missense_Mutation_p.A302V|ATP2C1_uc003enp.2_Missense_Mutation_p.A302V|ATP2C1_uc003enq.2_Missense_Mutation_p.A302V|ATP2C1_uc003enr.2_Missense_Mutation_p.A302V|ATP2C1_uc003ens.2_Missense_Mutation_p.A302V|ATP2C1_uc003ent.2_Missense_Mutation_p.A302V|ATP2C1_uc003enu.2_5'UTR	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	302	Helical; Name=4; (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TATAGTTTGGCTGTAGCAGCA	0.378									Hailey-Hailey_disease				T	130682820	C	T	130682820	3	4	27	1	0	0	0	0	1	0	0	0	1143	797	28	2	951	2	ATP2C1	3	130682820	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	10063	130682820	67339610	1943	25894											
ASTE1	28990	broad.mit.edu	37	chr3	130743433	130743433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagctccaagaggaagacGcgctttacttaagaatgtct	11	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:130743433G>A	uc003env.1	-	3	1160	c.718C>T	c.(718-720)CGT>TGT	p.R240C	NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Missense_Mutation_p.R240C|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	240					DNA repair		nuclease activity				0						AGAGGAAGACGCGCTTTACTT	0.453													A	130743433	G	A	130743433	3	1	27	1	0	0	0	0	1	0	0	0	1062	1087	38	1	1337	1	ASTE1	3	130743433	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	60613	130743433	67278997	1944	25895											
CPNE4	131034	broad.mit.edu	37	chr3	131271320	131271320	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcattaaagttgattgCaaagtcatgagagacctaga	9	6	3	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:131271320C>A	uc003eok.2	-	13	1567	c.1132G>T	c.(1132-1134)GCA>TCA	p.A378S	CPNE4_uc011blq.1_Missense_Mutation_p.A396S|CPNE4_uc003eol.2_Missense_Mutation_p.A396S|CPNE4_uc003eom.2_Missense_Mutation_p.A378S	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	378	VWFA.									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						AAGTTGATTGCAAAGTCATGA	0.388													A	131271320	C	A	131271320	3	1	27	1	0	0	0	0	1	0	0	0	3814	710	25	5	557	5	CPNE4	3	131271320	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	527887	131271320	66751110	1945	25896											
ACPP	55	broad.mit.edu	37	chr3	132051108	132051108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggcagccctgtttcccCcagaaggtgtcagcatctgg	11	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:132051108C>T	uc010htp.2	+	4	466	c.376C>T	c.(376-378)CCA>TCA	p.P126S	ACPP_uc003eon.3_Missense_Mutation_p.P126S|ACPP_uc003eop.3_Missense_Mutation_p.P126S	NM_001099	NP_001090	P15309	PPAP_HUMAN	acid phosphatase, prostate short isoform	126						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			ovary(1)	1						CCTGTTTCCCCCAGAAGGTGT	0.493													T	132051108	C	T	132051108	3	4	27	1	0	0	0	0	1	0	0	0	167	623	22	4	390	4	ACPP	3	132051108	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	779788	132051108	65971322	1946	25897											
ACPP	55	broad.mit.edu	37	chr3	132068825	132068825	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcagataccaagctacaaAaaactcatcatgtattctgc	4	11	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:132068825A>G	uc010htp.2	+	8	933	c.843A>G	c.(841-843)AAA>AAG	p.K281K	ACPP_uc003eon.3_Silent_p.K248K|ACPP_uc003eop.3_Silent_p.K281K	NM_001099	NP_001090	P15309	PPAP_HUMAN	acid phosphatase, prostate short isoform	281						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			ovary(1)	1						CAAGCTACAAAAAACTCATCA	0.284													G	132068825	A	G	132068825	2	3	27	1	0	0	0	0	0	0	0	1	167	11	1	3		3	ACPP	3	132068825	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	17717	132068825	65953605	1947	25898											
DNAJC13	23317	broad.mit.edu	37	chr3	132202234	132202234	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attagatgcaagaattgtggAccaaaggaatgttaaatgca	10	4	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:132202234A>G	uc003eor.2	+	28	3060	c.2995A>G	c.(2995-2997)ACC>GCC	p.T999A		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	999							heat shock protein binding			ovary(1)|breast(1)	2						AGAATTGTGGACCAAAGGAAT	0.393													G	132202234	A	G	132202234	3	3	27	1	0	0	0	0	1	0	0	0	4632	275	10	3	3101	3	DNAJC13	3	132202234	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	133409	132202234	65820196	1948	25899											
DNAJC13	23317	broad.mit.edu	37	chr3	132207831	132207831	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttctagatttttgaaatAcacacataccaaacaggctt	4	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:132207831A>G	uc003eor.2	+	31	3499	c.3434A>G	c.(3433-3435)TAC>TGC	p.Y1145C		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1145							heat shock protein binding			ovary(1)|breast(1)	2						TTTTTGAAATACACACATACC	0.328													G	132207831	A	G	132207831	3	3	27	1	0	0	0	0	1	0	0	0	4632	391	14	3	3552	3	DNAJC13	3	132207831	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	5597	132207831	65814599	1949	25900											
DNAJC13	23317	broad.mit.edu	37	chr3	132222133	132222133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtatttggctgaagaacaaGcaactccagaaaatccaacc	8	10	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:132222133G>A	uc003eor.2	+	41	4857	c.4792G>A	c.(4792-4794)GCA>ACA	p.A1598T		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1598							heat shock protein binding			ovary(1)|breast(1)	2						TGAAGAACAAGCAACTCCAGA	0.443													A	132222133	G	A	132222133	3	1	27	1	0	0	0	0	1	0	0	0	4632	971	34	2	4950	2	DNAJC13	3	132222133	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	14302	132222133	65800297	1950	25901											
DNAJC13	23317	broad.mit.edu	37	chr3	132257035	132257035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggacctggagttgctgGctaccttaccgcaggtacat	12	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:132257035G>A	uc003eor.2	+	56	6706	c.6641G>A	c.(6640-6642)GGC>GAC	p.G2214D		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2214							heat shock protein binding			ovary(1)|breast(1)	2						GGAGTTGCTGGCTACCTTACC	0.458													A	132257035	G	A	132257035	3	1	27	1	0	0	0	0	1	0	0	0	4632	1203	42	2	6859	2	DNAJC13	3	132257035	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	34902	132257035	65765395	1951	25902											
CCRL1	51554	broad.mit.edu	37	chr3	132319590	132319590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatgtgcaaaataacttcaGccttgtacacactaaacttt	4	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:132319590G>A	uc003eow.2	+	2	432	c.349G>A	c.(349-351)GCC>ACC	p.A117T	ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Missense_Mutation_p.A117T	NM_016557	NP_057641	Q9NPB9	CCRL1_HUMAN	chemokine (C-C motif) receptor-like 1	117	Helical; Name=3; (Potential).				chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity				0						AATAACTTCAGCCTTGTACAC	0.423													A	132319590	G	A	132319590	3	1	27	1	0	0	0	0	1	0	0	0	2949	971	34	2	351	2	CCRL1	3	132319590	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	62555	132319590	65702840	1952	25903											
NPHP3	27031	broad.mit.edu	37	chr3	132402349	132402349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccaattcatacaaaggtAcagctttgtcaagtttcccc	6	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:132402349A>G	uc003epe.1	-	25	3667	c.3590T>C	c.(3589-3591)GTA>GCA	p.V1197A	NPHP3_uc003eoz.1_Missense_Mutation_p.V76A|NPHP3_uc003epd.1_Missense_Mutation_p.V439A	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	1197	TPR 9.				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1						ATACAAAGGTACAGCTTTGTC	0.343													G	132402349	A	G	132402349	3	3	27	1	0	0	0	0	1	0	0	0	10580	391	14	3	414	3	NPHP3	3	132402349	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	82759	132402349	65620081	1953	25904											
NPHP3	27031	broad.mit.edu	37	chr3	132407738	132407738	+	Splice_Site	DEL	G	G	-													ctgcaaaggtactatggcctGgggggaaaaggggtgaaagg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:132407737_132407737TG>T	uc003epe.2	-	21	2988	c.2884_splice	c.e21-1	p.A962_splice	NPHP3_uc003epd.2_Splice_Site_p.A204_splice	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	962					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TACTATGGCCTGGGGGGAAAA	0.438													-	132407738	G	-	132407738	8	5	27	1	0	1	0	1	0	0	1	0	10580	1363	47	0		0	NPHP3	3	132407738	Splice_Site	DEL	G	TCGA-BR-6452-01A-12D-1800-08	5389	132407738	65614692	1954	25905											
NPHP3	27031	broad.mit.edu	37	chr3	132409456	132409456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctgctgaaaaagccacGggagttcatctgcacttctc	9	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:132409456G>A	uc003epe.1	-	19	2686	c.2609C>T	c.(2608-2610)CCG>CTG	p.P870L	NPHP3_uc003epd.1_Missense_Mutation_p.P112L	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	870					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1						AAAAAGCCACGGGAGTTCATC	0.393													A	132409456	G	A	132409456	3	1	27	1	0	0	0	0	1	0	0	0	10580	1116	39	1	1419	1	NPHP3	3	132409456	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1718	132409456	65612974	1955	25906											
NPHP3	27031	broad.mit.edu	37	chr3	132432040	132432040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccattttcttacagtgaGgtattgattttcaacatcta	5	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:132432040G>A	uc003epe.1	-	6	1125	c.1048C>T	c.(1048-1050)CTC>TTC	p.L350F	NPHP3_uc003epf.1_Missense_Mutation_p.L105F	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	350					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1						CTTACAGTGAGGTATTGATTT	0.274													A	132432040	G	A	132432040	3	1	27	1	0	0	0	0	1	0	0	0	10580	1000	35	4	3032	4	NPHP3	3	132432040	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	22584	132432040	65590390	1956	25907											
TOPBP1	11073	broad.mit.edu	37	chr3	133341983	133341983	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgatggtgctgactcttTattattggtggccatattgt	10	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:133341983T>C	uc003eps.2	-	19	3262	c.3130A>G	c.(3130-3132)AAA>GAA	p.K1044E	TOPBP1_uc003ept.1_Missense_Mutation_p.K48E	NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1044					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						GCTGACTCTTTATTATTGGTG	0.289								Other_conserved_DNA_damage_response_genes					C	133341983	T	C	133341983	3	2	27	1	0	0	0	0	1	0	0	0	16366	1763	61	3	1478	3	TOPBP1	3	133341983	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	909943	133341983	64680447	1957	25908											
TF	7018	broad.mit.edu	37	chr3	133473404	133473404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcttccagatgaaccagCttcgaggcaagaagtcctgc	12	11	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:133473404C>T	uc003epu.1	+	9	2119	c.391C>T	c.(391-393)CTT>TTT	p.L131F	TF_uc011bls.1_Missense_Mutation_p.L131F|TF_uc011blt.1_Missense_Mutation_p.L4F|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.L131F	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	131	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GATGAACCAGCTTCGAGGCAA	0.522													T	133473404	C	T	133473404	3	4	27	1	0	0	0	0	1	0	0	0	15782	797	28	2	405	2	TF	3	133473404	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	131421	133473404	64549026	1958	25909											
TF	7018	broad.mit.edu	37	chr3	133494403	133494403	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccagagccccgaatcacgCtgtggtcacacggaaagata	12	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:133494403C>A	uc003epu.1	+	20	3542	c.1814C>A	c.(1813-1815)GCT>GAT	p.A605D	TF_uc011blt.1_Missense_Mutation_p.A478D|TF_uc003epw.1_Missense_Mutation_p.A44D|TF_uc003epv.1_Missense_Mutation_p.A605D	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	605	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CCGAATCACGCTGTGGTCACA	0.507													A	133494403	C	A	133494403	3	1	27	1	0	0	0	0	1	0	0	0	15782	797	28	5	1872	5	TF	3	133494403	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	20999	133494403	64528027	1959	25910											
SRPRB	58477	broad.mit.edu	37	chr3	133538536	133538536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagttcctggagtgcagtGccaagggtggaagaggggac	19	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:133538536G>A	uc003epx.1	+	7	758	c.742G>A	c.(742-744)GCC>ACC	p.A248T		NM_021203	NP_067026	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, beta	248		GTP; via amide nitrogen (By similarity).				endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			ovary(1)	1						GGAGTGCAGTGCCAAGGGTGG	0.542													A	133538536	G	A	133538536	3	1	27	1	0	0	0	0	1	0	0	0	15162	1319	46	2	768	2	SRPRB	3	133538536	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	44133	133538536	64483894	1960	25911											
RAB6B	51560	broad.mit.edu	37	chr3	133583486	133583486	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taatcagagacgtcttcccgActgcaaaacaacaaggagag	9	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:133583486A>C	uc003epy.2	-	2	452	c.71T>G	c.(70-72)GTC>GGC	p.V24G	RAB6B_uc011blu.1_Missense_Mutation_p.V11G	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	24	GTP.				protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			pancreas(1)	1						CGTCTTCCCGACTGCAAAACA	0.473													C	133583486	A	C	133583486	3	2	27	1	0	0	0	0	1	0	0	0	12952	289	10	5	583	5	RAB6B	3	133583486	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	44950	133583486	64438944	1961	25912											
AMOTL2	51421	broad.mit.edu	37	chr3	134078201	134078201	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccagccctgggttcctgcTgccgcagccgcgaaaacaga	12	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:134078201T>G	uc003eqf.2	-	8	2319	c.2202A>C	c.(2200-2202)GCA>GCC	p.A734A	AMOTL2_uc003eqg.1_Silent_p.A676A|AMOTL2_uc003eqh.1_Silent_p.A674A|AMOTL2_uc010htx.1_5'Flank|AMOTL2_uc003eqe.1_Silent_p.A301A	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	676										large_intestine(1)	1						GGGTTCCTGCTGCCGCAGCCG	0.627													G	134078201	T	G	134078201	2	3	27	1	0	0	0	0	0	0	0	1	584	1567	55	5		5	AMOTL2	3	134078201	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	494715	134078201	63944229	1962	25913											
AMOTL2	51421	broad.mit.edu	37	chr3	134089923	134089923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtccctgcctgctgggccGcatagtactgcgagtgggct	16	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:134089923G>A	uc003eqf.2	-	2	644	c.527C>T	c.(526-528)GCG>GTG	p.A176V	AMOTL2_uc003eqg.1_Missense_Mutation_p.A118V|AMOTL2_uc003eqh.1_Missense_Mutation_p.A118V	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	118										large_intestine(1)	1						CTGCTGGGCCGCATAGTACTG	0.692													A	134089923	G	A	134089923	3	1	27	1	0	0	0	0	1	0	0	0	584	1087	38	1	2025	1	AMOTL2	3	134089923	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	11722	134089923	63932507	1963	25914											
CEP63	80254	broad.mit.edu	37	chr3	134277113	134277113	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agctggagatttctactcagAtgtgcaaaaaacaaaatgac	8	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:134277113A>T	uc003eqo.1	+	14	2046	c.1597A>T	c.(1597-1599)ATG>TTG	p.M533L	CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	533	Potential.				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			ovary(1)	1						TTCTACTCAGATGTGCAAAAA	0.299													T	134277113	A	T	134277113	3	4	27	1	0	0	0	0	1	0	0	0	3257	333	12	5	1643	5	CEP63	3	134277113	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	187190	134277113	63745317	1964	25915											
CEP63	80254	broad.mit.edu	37	chr3	134278132	134278132	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgagtcctcaaatcagccCttgcagctccaccaggtctt	7	16	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:134278132C>A	uc003eqo.1	+	15	2263	c.1814C>A	c.(1813-1815)CCT>CAT	p.P605H	CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	605					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			ovary(1)	1						CAAATCAGCCCTTGCAGCTCC	0.453													A	134278132	C	A	134278132	3	1	27	1	0	0	0	0	1	0	0	0	3257	681	24	5	1864	5	CEP63	3	134278132	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1019	134278132	63744298	1965	25916											
KY	339855	broad.mit.edu	37	chr3	134323034	134323034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatgatgcccatctgctccGagaaccagctggggcccacg	11	15	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:134323034G>A	uc010hty.2	-	11	1435	c.1373C>T	c.(1372-1374)TCG>TTG	p.S458L	KY_uc011blw.1_3'UTR|KY_uc011blx.1_Missense_Mutation_p.S437L	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	458						cytoskeleton|Z disc	peptidase activity			ovary(2)	2						CATCTGCTCCGAGAACCAGCT	0.592													A	134323034	G	A	134323034	3	1	27	1	0	0	0	0	1	0	0	0	8586	1059	37	1	616	1	KY	3	134323034	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	44902	134323034	63699396	1966	25917											
KY	339855	broad.mit.edu	37	chr3	134338077	134338077	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggtttgaaggcttggcggTccttctcctgagcagctgca	14	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:134338077T>C	uc010hty.2	-	8	685	c.623A>G	c.(622-624)GAC>GGC	p.D208G	KY_uc011blw.1_Missense_Mutation_p.D208G|KY_uc011blx.1_Missense_Mutation_p.D187G|KY_uc003eqr.1_5'UTR	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	208						cytoskeleton|Z disc	peptidase activity			ovary(2)	2						GGCTTGGCGGTCCTTCTCCTG	0.562													C	134338077	T	C	134338077	3	2	27	1	0	0	0	0	1	0	0	0	8586	1667	58	3	1378	3	KY	3	134338077	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	15043	134338077	63684353	1967	25918											
PPP2R3A	5523	broad.mit.edu	37	chr3	135720924	135720924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatagaaactcactggataCgaacctgacttccatgtttc	6	11	2	2	rs138854105		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:135720924C>T	uc003eqv.1	+	2	1149	c.584C>T	c.(583-585)ACG>ATG	p.T195M	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	195					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						TCACTGGATACGAACCTGACT	0.393													T	135720924	C	T	135720924	3	4	27	1	0	0	0	0	1	0	0	0	12388	536	19	1	586	1	PPP2R3A	3	135720924	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1382847	135720924	62301506	1968	25919											
PPP2R3A	5523	broad.mit.edu	37	chr3	135721357	135721357	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatatgaagatgttgtccaGctctcagcttctgactctgg	9	9	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:135721357G>A	uc003eqv.1	+	2	1582	c.1017G>A	c.(1015-1017)CAG>CAA	p.Q339Q	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	339					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						ATGTTGTCCAGCTCTCAGCTT	0.408													A	135721357	G	A	135721357	2	1	27	1	0	0	0	0	0	0	0	1	12388	962	34	2		2	PPP2R3A	3	135721357	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	433	135721357	62301073	1969	25920											
MSL2	55167	broad.mit.edu	37	chr3	135870699	135870699	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcactctctgatctggatcGttttctattcaattttgcta	6	9	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:135870699G>A	uc003eqx.1	-	2	1757	c.1024C>T	c.(1024-1026)CGA>TGA	p.R342*	MSL2_uc011bmb.1_Nonsense_Mutation_p.R268*	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	342					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						GATCTGGATCGTTTTCTATTC	0.453													A	135870699	G	A	135870699	4	1	27	1	0	0	0	0	0	1	0	0	9878	1153	40	1	713	1	MSL2	3	135870699	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	149342	135870699	62151731	1970	25921											
STAG1	10274	broad.mit.edu	37	chr3	136152490	136152490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tataagagcactctcttgacGatcagacattgctaaggtaa	8	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:136152490G>A	uc003era.1	-	16	1850	c.1558C>T	c.(1558-1560)CGT>TGT	p.R520C	STAG1_uc003erb.1_Missense_Mutation_p.R520C|STAG1_uc003erc.1_Missense_Mutation_p.R294C|STAG1_uc010hua.1_Missense_Mutation_p.R383C	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	520					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						CTCTCTTGACGATCAGACATT	0.378													A	136152490	G	A	136152490	3	1	27	1	0	0	0	0	1	0	0	0	15241	1058	37	1	2294	1	STAG1	3	136152490	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	281791	136152490	61869940	1971	25922											
STAG1	10274	broad.mit.edu	37	chr3	136323179	136323179	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttttccccagtttcaccAcctcaaataatgtgacaggc	5	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:136323179A>G	uc003era.1	-	4	561	c.269T>C	c.(268-270)GTG>GCG	p.V90A	STAG1_uc003erb.1_Missense_Mutation_p.V90A|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003erd.2_5'UTR|STAG1_uc003ere.2_Missense_Mutation_p.V90A	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	90					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						CAGTTTCACCACCTCAAATAA	0.418													G	136323179	A	G	136323179	3	3	27	1	0	0	0	0	1	0	0	0	15241	159	6	3	3631	3	STAG1	3	136323179	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	170689	136323179	61699251	1972	25923											
NCK1	4690	broad.mit.edu	37	chr3	136665098	136665098	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggcattaaatgaaagaggAcatgaaggggatttcctcat	11	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:136665098A>G	uc003erh.2	+	3	1007	c.900A>G	c.(898-900)GGA>GGG	p.G300G	NCK1_uc011bme.1_Silent_p.G236G	NM_006153	NP_006144	P16333	NCK1_HUMAN	NCK adaptor protein 1	300	SH2.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			pancreas(1)	1						ATGAAAGAGGACATGAAGGGG	0.373													G	136665098	A	G	136665098	2	3	27	1	0	0	0	0	0	0	0	1	10219	262	10	3		3	NCK1	3	136665098	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	341919	136665098	61357332	1973	25924											
IL20RB	53833	broad.mit.edu	37	chr3	136699431	136699431	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtactattctgtcgaataccAggggtgagttttttctttta	9	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:136699431A>G	uc003eri.1	+	2	461	c.212A>G	c.(211-213)CAG>CGG	p.Q71R	IL20RB_uc003erj.1_RNA|IL20RB_uc010hud.1_5'UTR	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta precursor	71	Fibronectin type-III 1.|Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)	1						GTCGAATACCAGGGGTGAGTT	0.478													G	136699431	A	G	136699431	3	3	27	1	0	0	0	0	1	0	0	0	7669	188	7	3	218	3	IL20RB	3	136699431	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	34333	136699431	61322999	1974	25925											
CLDN18	51208	broad.mit.edu	37	chr3	137749876	137749876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagcctggaggcttcaagGccagcactggctttgggtcc	13	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:137749876G>A	uc003ero.1	+	5	732	c.679G>A	c.(679-681)GCC>ACC	p.A227T	CLDN18_uc003erp.1_Missense_Mutation_p.A227T|CLDN18_uc010hue.1_Missense_Mutation_p.A183T	NM_001002026	NP_001002026	P56856	CLD18_HUMAN	claudin 18 isoform 2	227	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			upper_aerodigestive_tract(1)|ovary(1)	2						AGGCTTCAAGGCCAGCACTGG	0.468													A	137749876	G	A	137749876	3	1	27	1	0	0	0	0	1	0	0	0	3479	1203	42	2	921	2	CLDN18	3	137749876	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1050445	137749876	60272554	1975	25926											
DZIP1L	199221	broad.mit.edu	37	chr3	137783521	137783521	+	Frame_Shift_Del	DEL	A	A	-													tgtggcccagcattgggcatAaaaaacagactgacccctcc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:137783520_137783520TA>T	uc003erq.3	-	14	2455	c.2092_2092TA>A	c.(2092-2094)atgfs	p.M698fs		NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	698						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GCATTGGGCATAAAAAACAGA	0.517													-	137783521	A	-	137783521	7	5	27	1	0	1	0	1	0	0	0	0	4864	359	13	0	220	0	DZIP1L	3	137783521	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	33645	137783521	60238909	1976	25927											
ARMC8	25852	broad.mit.edu	37	chr3	137991841	137991841	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggctgaacaaaaaataaaAgcagatattttacgaagctt	7	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:137991841A>G	uc003esa.1	+	18	1837	c.1470A>G	c.(1468-1470)AAA>AAG	p.K490K	TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Intron|TXNDC6_uc003ese.1_Intron|ARMC8_uc011bmf.1_Silent_p.K473K|ARMC8_uc011bmg.1_Silent_p.K437K|ARMC8_uc011bmh.1_Silent_p.K431K|ARMC8_uc003esb.1_Silent_p.K462K|ARMC8_uc003esc.1_Silent_p.K262K|ARMC8_uc003esf.1_Silent_p.K73K	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8 isoform 2	504	ARM 11.						binding				0						AAAAAATAAAAGCAGATATTT	0.303													G	137991841	A	G	137991841	2	3	27	1	0	0	0	0	0	0	0	1	957	69	3	3		3	ARMC8	3	137991841	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	208320	137991841	60030589	1977	25928											
ESYT3	83850	broad.mit.edu	37	chr3	138183274	138183274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcaagtcagatccctacGccaaggtgagcatcggccta	12	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:138183274G>A	uc003esk.2	+	9	1229	c.1003G>A	c.(1003-1005)GCC>ACC	p.A335T	ESYT3_uc010hug.2_RNA	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	335	C2 1.					integral to membrane|plasma membrane					0						AGATCCCTACGCCAAGGTGAG	0.567													A	138183274	G	A	138183274	3	1	27	1	0	0	0	0	1	0	0	0	5266	1087	38	1	1037	1	ESYT3	3	138183274	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	191433	138183274	59839156	1978	25929											
ESYT3	83850	broad.mit.edu	37	chr3	138191352	138191352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccctacagatttgccatgtCccccagaccctgcttctgat	7	16	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:138191352C>T	uc003esk.2	+	18	2114	c.1888C>T	c.(1888-1890)CCC>TCC	p.P630S	ESYT3_uc010hug.2_RNA	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	630						integral to membrane|plasma membrane					0						TTTGCCATGTCCCCCAGACCC	0.547													T	138191352	C	T	138191352	3	4	27	1	0	0	0	0	1	0	0	0	5266	855	30	4	1958	4	ESYT3	3	138191352	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	8078	138191352	59831078	1979	25930											
CEP70	80321	broad.mit.edu	37	chr3	138224301	138224301	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gataattgaattgatgctacAcagcacctttaaaaaaacat	5	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:138224301A>G	uc003esl.2	-	13	1255	c.1057T>C	c.(1057-1059)TGT>CGT	p.C353R	CEP70_uc011bmk.1_Missense_Mutation_p.C333R|CEP70_uc011bml.1_Missense_Mutation_p.C335R|CEP70_uc011bmm.1_Missense_Mutation_p.C201R|CEP70_uc003esm.2_Missense_Mutation_p.C353R	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70 kDa	353					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			skin(1)	1						TTGATGCTACACAGCACCTTT	0.284													G	138224301	A	G	138224301	3	3	27	1	0	0	0	0	1	0	0	0	3259	159	6	3	760	3	CEP70	3	138224301	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	32949	138224301	59798129	1980	25931											
PIK3CB	5291	broad.mit.edu	37	chr3	138383975	138383975	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgaatgtcagcaattgTttcagaggtgctcacaactt	9	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:138383975T>C	uc011bmq.1	-	18	2575	c.2575A>G	c.(2575-2577)ACA>GCA	p.T859A	PIK3CB_uc011bmn.1_Missense_Mutation_p.T371A|PIK3CB_uc011bmo.1_Missense_Mutation_p.T310A|PIK3CB_uc011bmp.1_Missense_Mutation_p.T446A	NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	859	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						TCAGCAATTGTTTCAGAGGTG	0.458													C	138383975	T	C	138383975	3	2	27	1	0	0	0	0	1	0	0	0	11914	1725	60	3	655	3	PIK3CB	3	138383975	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	159674	138383975	59638455	1981	25932											
PIK3CB	5291	broad.mit.edu	37	chr3	138409870	138409870	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaatagaaactgccctaTcctccgattaccaagtgctc	5	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:138409870T>A	uc011bmq.1	-	13	2008	c.2008A>T	c.(2008-2010)ATA>TTA	p.I670L	PIK3CB_uc011bmn.1_Missense_Mutation_p.I182L|PIK3CB_uc011bmo.1_Missense_Mutation_p.I116L|PIK3CB_uc011bmp.1_Missense_Mutation_p.I257L	NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	670	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						AACTGCCCTATCCTCCGATTA	0.343													A	138409870	T	A	138409870	3	1	27	1	0	0	0	0	1	0	0	0	11914	1435	50	5	1242	5	PIK3CB	3	138409870	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	25895	138409870	59612560	1982	25933											
PIK3CB	5291	broad.mit.edu	37	chr3	138453548	138453548	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcgatttatggcagcctcTatggcaatcatttcttgttc	7	9	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:138453548T>G	uc011bmq.1	-	5	900	c.900A>C	c.(898-900)ATA>ATC	p.I300I		NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	300					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						TGGCAGCCTCTATGGCAATCA	0.363													G	138453548	T	G	138453548	2	3	27	1	0	0	0	0	0	0	0	1	11914	1512	53	5		5	PIK3CB	3	138453548	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	43678	138453548	59568882	1983	25934											
PIK3CB	5291	broad.mit.edu	37	chr3	138461549	138461549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacaagtgacaggattttttCctcgctgaatttgcgcattt	8	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:138461549C>T	uc011bmq.1	-	3	472	c.472G>A	c.(472-474)GAA>AAA	p.E158K		NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	158					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						AGGATTTTTTCCTCGCTGAAT	0.378													T	138461549	C	T	138461549	3	4	27	1	0	0	0	0	1	0	0	0	11914	864	30	4	2818	4	PIK3CB	3	138461549	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	8001	138461549	59560881	1984	25935											
C3orf72	401089	broad.mit.edu	37	chr3	138669110	138669110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcttttctccccagggcCgggaatcctgcaacagcggc	12	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:138669110C>T	uc003esx.1	+	3	355	c.224C>T	c.(223-225)CCG>CTG	p.P75L	C3orf72_uc011bmr.1_3'UTR	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	75											0						TCCCCAGGGCCGGGAATCCTG	0.706													T	138669110	C	T	138669110	3	4	27	1	0	0	0	0	1	0	0	0	2244	652	23	1	234	1	C3orf72	3	138669110	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	207561	138669110	59353320	1985	25936											
ZBTB38	253461	broad.mit.edu	37	chr3	141163724	141163724	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggaacctccacaaatagtAatgttgcacccctttgccaa	7	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:141163724A>G	uc003etw.2	+	8	3476	c.2494A>G	c.(2494-2496)AAT>GAT	p.N832D	ZBTB38_uc010hun.2_Missense_Mutation_p.N829D|ZBTB38_uc010huo.2_Missense_Mutation_p.N832D|ZBTB38_uc003ety.2_Missense_Mutation_p.N832D|ZBTB38_uc010hup.2_Missense_Mutation_p.N833D	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	832					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CACAAATAGTAATGTTGCACC	0.398													G	141163724	A	G	141163724	3	3	27	1	0	0	0	0	1	0	0	0	17536	362	13	3	2496	3	ZBTB38	3	141163724	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2494614	141163724	56858706	1986	25937											
GRK7	131890	broad.mit.edu	37	chr3	141497221	141497221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacagcaaagagctgcagcGgcggcggcgtagcctggccc	16	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:141497221G>A	uc011bnd.1	+	1	179	c.95G>A	c.(94-96)CGG>CAG	p.R32Q		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	32					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						GAGCTGCAGCGGCGGCGGCGT	0.682													A	141497221	G	A	141497221	3	1	27	1	0	0	0	0	1	0	0	0	6794	1116	39	1	97	1	GRK7	3	141497221	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	333497	141497221	56525209	1987	25938											
TFDP2	7029	broad.mit.edu	37	chr3	141678643	141678643	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agtacttctatgtcatcatgGatctcaaaggtgttgtcaaa	8	7	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:141678643G>C	uc003eun.3	-	11	1303	c.924C>G	c.(922-924)ATC>ATG	p.I308M	TFDP2_uc003euk.3_Missense_Mutation_p.I221M|TFDP2_uc010hur.2_Missense_Mutation_p.I248M|TFDP2_uc003eul.3_Missense_Mutation_p.I248M|TFDP2_uc011bnf.1_Missense_Mutation_p.I211M|TFDP2_uc011bng.1_Missense_Mutation_p.I172M|TFDP2_uc003eum.3_Missense_Mutation_p.I248M	NM_006286	NP_006277	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization	308	DCB2.				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)	1						TGTCATCATGGATCTCAAAGG	0.438													C	141678643	G	C	141678643	3	2	27	1	0	0	0	0	1	0	0	0	15795	1164	41	5	428	5	TFDP2	3	141678643	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	181422	141678643	56343787	1988	25939											
XRN1	54464	broad.mit.edu	37	chr3	142037739	142037739	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taattttacttggcaaacggTcattgtctaaaaaaagagaa	7	5	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:142037739T>C	uc003eus.2	-	38	4475	c.4408A>G	c.(4408-4410)ACC>GCC	p.T1470A	XRN1_uc010huu.2_Missense_Mutation_p.T937A|XRN1_uc003eut.2_Missense_Mutation_p.T1470A|XRN1_uc003euu.2_Missense_Mutation_p.T1471A	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	1470					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						TGGCAAACGGTCATTGTCTAA	0.348													C	142037739	T	C	142037739	3	2	27	1	0	0	0	0	1	0	0	0	17456	1667	58	3	732	3	XRN1	3	142037739	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	359096	142037739	55984691	1989	25940											
XRN1	54464	broad.mit.edu	37	chr3	142054304	142054305	+	Frame_Shift_Ins	INS	-	-	T													cttacctgcttattggacatINStttttgggaccaacactcag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:142054303_142054304A>AT	uc003eus.3	-	33	3992_3993	c.3925_3926T>AT	c.(3925-3927)atgfs	p.M1309fs	XRN1_uc010huu.3_Frame_Shift_Ins_p.M775fs|XRN1_uc003eut.3_Frame_Shift_Ins_p.M1309fs|XRN1_uc003euu.3_Frame_Shift_Ins_p.M1309fs	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	1309					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CTTATTGGACATTTTTTGGGAC	0.342													T	142054305	-	T	142054304	7	5	27	1	0	1	1	0	0	0	0	0	17456	1493	52	0	1231	0	XRN1	3	142054304	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	16565	142054304	55968126	1990	25941											
ATR	545	broad.mit.edu	37	chr3	142186802	142186802	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgcacaattctagaagctTatctgttaggcgagttgcat	9	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:142186802T>C	uc003eux.3	-	39	6783	c.6661A>G	c.(6661-6663)AAG>GAG	p.K2221E	ATR_uc003euy.1_Missense_Mutation_p.K107E	NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	2221					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						TCTAGAAGCTTATCTGTTAGG	0.338								Other_conserved_DNA_damage_response_genes					C	142186802	T	C	142186802	3	2	27	1	0	0	0	0	1	0	0	0	1204	1763	61	3	1309	3	ATR	3	142186802	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	132498	142186802	55835628	1991	25942											
ATR	545	broad.mit.edu	37	chr3	142242991	142242991	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcactgtcaccaactgtgaGataataggttctactgtttc	8	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:142242991G>T	uc003eux.3	-	22	4118	c.3996C>A	c.(3994-3996)ATC>ATA	p.I1332I		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1332	HEAT 2.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						CCAACTGTGAGATAATAGGTT	0.378								Other_conserved_DNA_damage_response_genes					T	142242991	G	T	142242991	2	4	27	1	0	0	0	0	0	0	0	1	1204	932	33	5		5	ATR	3	142242991	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	56189	142242991	55779439	1992	25943											
CHST2	9435	broad.mit.edu	37	chr3	142840751	142840751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgagacccgcgagctcacCgcatgcccttcttggaggcc	12	17	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:142840751C>T	uc003evm.2	+	2	1982	c.1093C>T	c.(1093-1095)CGC>TGC	p.R365C		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	365	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3						GCGAGCTCACCGCATGCCCTT	0.697													T	142840751	C	T	142840751	3	4	27	1	0	0	0	0	1	0	0	0	3404	652	23	1	1095	1	CHST2	3	142840751	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	597760	142840751	55181679	1993	25944											
SLC9A9	285195	broad.mit.edu	37	chr3	143185920	143185920	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgggggttgttcctcctccAaatacccagacagtgaagaa	10	10	0	3	rs61734421	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:143185920A>G	uc003evn.2	-	12	1610	c.1428T>C	c.(1426-1428)TTT>TTC	p.F476F		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	476	Helical; (Potential).				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3						TTCCTCCTCCAAATACCCAGA	0.473													G	143185920	A	G	143185920	2	3	27	1	0	0	0	0	0	0	0	1	14721	127	5	3		3	SLC9A9	3	143185920	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	345169	143185920	54836510	1994	25945											
SLC9A9	285195	broad.mit.edu	37	chr3	143513844	143513844	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctccgaatgtcacttaccCtatgacgatgcaggagatgg	11	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:143513844C>A	uc003evn.2	-	4	714	c.532G>T	c.(532-534)GGG>TGG	p.G178W	SLC9A9_uc011bnk.1_Missense_Mutation_p.G52W	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	178	Helical; (Potential).				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3						GTCACTTACCCTATGACGATG	0.438													A	143513844	C	A	143513844	3	1	27	1	0	0	0	0	1	0	0	0	14721	695	24	5	1457	5	SLC9A9	3	143513844	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	327924	143513844	54508586	1995	25946											
PLOD2	5352	broad.mit.edu	37	chr3	145788925	145788925	+	Frame_Shift_Del	DEL	T	T	-													cgctgtcgttcaggggagtaTtttactacaaaattcagtag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:145788924_145788924AT>A	uc003evr.1	-	18	2532	c.2026_2026AT>T	c.(2026-2028)tacfs	p.Y676fs	PLOD2_uc003evq.1_Frame_Shift_Del_p.Y336fs|PLOD2_uc011bnm.1_Frame_Shift_Del_p.Y621fs|PLOD2_uc003evs.1_Frame_Shift_Del_p.Y655fs	NM_182943	NP_891988	O00469	PLOD2_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (PLOD2), transcript variant 1, mRNA.	655	Fe2OG dioxygenase.				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCAGGGGAGTATTTTACTACA	0.353													-	145788925	T	-	145788925	7	5	27	1	0	1	0	1	0	0	0	0	12102	1490	52	0	259	0	PLOD2	3	145788925	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	2275081	145788925	52233505	1996	25947											
PLOD2	5352	broad.mit.edu	37	chr3	145824343	145824343	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtggatcaatgtaaacTttagtgtaaaagagctgatc	9	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:145824343T>G	uc003evs.1	-	5	1097	c.591A>C	c.(589-591)AAA>AAC	p.K197N	PLOD2_uc011bnm.1_Missense_Mutation_p.K142N|PLOD2_uc003evr.1_Missense_Mutation_p.K197N	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	197					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)	CAATGTAAACTTTAGTGTAAA	0.358													G	145824343	T	G	145824343	3	3	27	1	0	0	0	0	1	0	0	0	12102	1606	56	5	1749	5	PLOD2	3	145824343	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	35418	145824343	52198087	1997	25948											
PLSCR1	5359	broad.mit.edu	37	chr3	146234850	146234850	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaacatcaaggtctaaaggGaactggattccaaagttatc	8	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:146234850G>A	uc003evx.3	-	8	1231	c.843C>T	c.(841-843)TTC>TTT	p.F281F	PLSCR1_uc003evy.3_Silent_p.F274F|PLSCR1_uc011bnn.1_Silent_p.F200F|PLSCR1_uc003evz.3_RNA	NM_021105	NP_066928	O15162	PLS1_HUMAN	phospholipid scramblase 1	281	Cytoplasmic.			F->A: Complete inactivation of the Ca(2+)-dependent phospholipid scrambling.	phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			ovary(2)	2						GGTCTAAAGGGAACTGGATTC	0.373													A	146234850	G	A	146234850	2	1	27	1	0	0	0	0	0	0	0	1	12109	1165	41	4		4	PLSCR1	3	146234850	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	410507	146234850	51787580	1998	25949											
ZIC1	7545	broad.mit.edu	37	chr3	147128883	147128883	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaaaaggacgcacacaggTacggaaacagctgtaggacc	11	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:147128883T>C	uc003ewe.2	+	1	1701	c.982_splice	c.e1+2	p.G328_splice		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1						behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CGCACACAGGTACGGAAACAG	0.602													C	147128883	T	C	147128883	5	2	27	1	0	0	0	0	0	0	1	0	17675	1652	57	3	986	3	ZIC1	3	147128883	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	894033	147128883	50893547	1999	25950											
GYG1	2992	broad.mit.edu	37	chr3	148727078	148727078	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaggtggggaccaaggcaTactgaacacattttttagca	10	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:148727078T>C	uc003ewn.2	+	5	550	c.497T>C	c.(496-498)ATA>ACA	p.I166T	GYG1_uc011bnp.1_Intron|GYG1_uc003ewo.2_Missense_Mutation_p.I166T|GYG1_uc003ewp.2_Missense_Mutation_p.I166T	NM_004130	NP_004121	P46976	GLYG_HUMAN	glycogenin 1	166					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GACCAAGGCATACTGAACACA	0.353													C	148727078	T	C	148727078	3	2	27	1	0	0	0	0	1	0	0	0	6905	1406	49	3	515	3	GYG1	3	148727078	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1598195	148727078	49295352	2000	25951											
HLTF	6596	broad.mit.edu	37	chr3	148750057	148750057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aattttggcttgtttcatttCgtcagcatttggttttttag	8	5	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:148750057C>T	uc003ewq.1	-	25	3198	c.2980G>A	c.(2980-2982)GAA>AAA	p.E994K	HLTF_uc003ewr.1_Missense_Mutation_p.E994K|HLTF_uc003ews.1_Missense_Mutation_p.E993K|HLTF_uc010hve.1_Missense_Mutation_p.E993K	NM_139048	NP_620636	Q14527	HLTF_HUMAN	helicase-like transcription factor	994	Helicase C-terminal.|Interaction with SP1 and SP3.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGTTTCATTTCGTCAGCATTT	0.313													T	148750057	C	T	148750057	3	4	27	1	0	0	0	0	1	0	0	0	7215	893	31	1	53	1	HLTF	3	148750057	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	22979	148750057	49272373	2001	25952											
HPS3	84343	broad.mit.edu	37	chr3	148884930	148884930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgttctgtgtcgtacacGcttgaaagagtatgaacagt	10	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:148884930G>A	uc003ewu.1	+	15	2839	c.2699G>A	c.(2698-2700)CGC>CAC	p.R900H	CP_uc011bnr.1_Intron|HPS3_uc011bnq.1_Missense_Mutation_p.R735H|HPS3_uc003ewv.1_RNA	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	900						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGTCGTACACGCTTGAAAGAG	0.453									Hermansky-Pudlak_syndrome				A	148884930	G	A	148884930	3	1	27	1	0	0	0	0	1	0	0	0	7340	1087	38	1	2757	1	HPS3	3	148884930	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	134873	148884930	49137500	2002	25953											
CP	1356	broad.mit.edu	37	chr3	148894077	148894077	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taagtggtttccattccagcAtgaatgtggtcggtcacatg	11	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:148894077A>G	uc003ewy.3	-	18	3394	c.3141T>C	c.(3139-3141)CAT>CAC	p.H1047H	CP_uc011bnr.1_Intron|CP_uc003eww.3_3'UTR|CP_uc003ewx.3_Silent_p.H828H	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	1047	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCATTCCAGCATGAATGTGGT	0.388													G	148894077	A	G	148894077	2	3	27	1	0	0	0	0	0	0	0	1	3787	214	8	3		3	CP	3	148894077	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	9147	148894077	49128353	2003	25954											
CP	1356	broad.mit.edu	37	chr3	148896212	148896212	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtgacataccatgcattttAttgctttctatgaattcctc	5	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:148896212A>T	uc003ewy.3	-	16	3121	c.2868T>A	c.(2866-2868)AAT>AAA	p.N956K	CP_uc011bnr.1_RNA|CP_uc003eww.3_Missense_Mutation_p.N108K|CP_uc003ewx.3_Missense_Mutation_p.N737K|CP_uc003ewz.2_Missense_Mutation_p.N956K	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	956	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CATGCATTTTATTGCTTTCTA	0.289													T	148896212	A	T	148896212	3	4	27	1	0	0	0	0	1	0	0	0	3787	446	16	5	345	5	CP	3	148896212	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2135	148896212	49126218	2004	25955											
TM4SF18	116441	broad.mit.edu	37	chr3	149051032	149051032	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccttcaaaataccacacGtagttggtgagtttattgct	7	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:149051032G>A	uc003exa.2	-	2	275	c.138C>T	c.(136-138)TAC>TAT	p.Y46Y		NM_138786	NP_620141	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	46	Extracellular (Potential).					integral to membrane				ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AATACCACACGTAGTTGGTGA	0.408													A	149051032	G	A	149051032	2	1	27	1	0	0	0	0	0	0	0	1	15964	1140	40	1		1	TM4SF18	3	149051032	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	154820	149051032	48971398	2005	25956											
COMMD2	51122	broad.mit.edu	37	chr3	149468597	149468597	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttaattcttcagagaaTcccagaacaaaaacagagtc	6	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:149468597T>C	uc003exk.2	-	4	317	c.270A>G	c.(268-270)GGA>GGG	p.G90G		NM_016094	NP_057178	Q86X83	COMD2_HUMAN	COMM domain containing 2	90							protein binding				0			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CTTCAGAGAATCCCAGAACAA	0.343													C	149468597	T	C	149468597	2	2	27	1	0	0	0	0	0	0	0	1	3716	1422	50	3		3	COMMD2	3	149468597	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	417565	149468597	48553833	2006	25957											
RNF13	11342	broad.mit.edu	37	chr3	149678562	149678562	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagacccttggctaactAaaaccaaaaaaacctgtcca	6	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:149678562A>G	uc003exn.3	+	11	1601	c.817A>G	c.(817-819)AAA>GAA	p.K273E	RNF13_uc003exp.3_Missense_Mutation_p.K273E|RNF13_uc010hvh.2_Missense_Mutation_p.K154E	NM_007282	NP_009213	O43567	RNF13_HUMAN	ring finger protein 13	273	Cytoplasmic (Potential).|RING-type; atypical.				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTGGCTAACTAAAACCAAAAA	0.378													G	149678562	A	G	149678562	3	3	27	1	0	0	0	0	1	0	0	0	13437	363	13	3	851	3	RNF13	3	149678562	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	209965	149678562	48343868	2007	25958											
RNF13	11342	broad.mit.edu	37	chr3	149678615	149678615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagttgttccttctcaaggCgattcagactctgacacaga	8	10	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:149678615C>T	uc003exn.3	+	11	1654	c.870C>T	c.(868-870)GGC>GGT	p.G290G	RNF13_uc003exp.3_Silent_p.G290G|RNF13_uc010hvh.2_Silent_p.G171G	NM_007282	NP_009213	O43567	RNF13_HUMAN	ring finger protein 13	290	Cytoplasmic (Potential).				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTTCTCAAGGCGATTCAGACT	0.428													T	149678615	C	T	149678615	2	4	27	1	0	0	0	0	0	0	0	1	13437	755	27	1		1	RNF13	3	149678615	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	53	149678615	48343815	2008	25959											
PFN2	5217	broad.mit.edu	37	chr3	149686261	149686261	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatctctgatcactgagcatTtcttcgcgccaagagtcaaa	7	11	4	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:149686261T>C	uc003ext.1	-	2	307	c.209A>G	c.(208-210)AAA>AGA	p.K70R	PFN2_uc003exs.1_Missense_Mutation_p.K21R|PFN2_uc003exu.1_Missense_Mutation_p.K70R|PFN2_uc011bnu.1_Missense_Mutation_p.K70R	NM_053024	NP_444252	P35080	PROF2_HUMAN	profilin 2 isoform a	70					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding				0			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CACTGAGCATTTCTTCGCGCC	0.458													C	149686261	T	C	149686261	3	2	27	1	0	0	0	0	1	0	0	0	11768	1841	64	3	323	3	PFN2	3	149686261	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	7646	149686261	48336169	2009	25960											
EIF2A	83939	broad.mit.edu	37	chr3	150282089	150282089	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttcattgacataggtgTccatcctggtcagaagatga	9	7	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:150282089T>G	uc003eya.2	+	6	412	c.396T>G	c.(394-396)TGT>TGG	p.C132W	SERP1_uc003exz.2_Intron|EIF2A_uc003eyb.2_Missense_Mutation_p.C5W|EIF2A_uc003eyc.2_Missense_Mutation_p.C5W|EIF2A_uc011bnv.1_Missense_Mutation_p.C107W|EIF2A_uc011bnw.1_Intron|EIF2A_uc003eyd.2_5'UTR	NM_032025	NP_114414	Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A	132	WD 2.				regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding				0		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GACATAGGTGTCCATCCTGGT	0.289													G	150282089	T	G	150282089	3	3	27	1	0	0	0	0	1	0	0	0	4995	1673	58	5	418	5	EIF2A	3	150282089	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	595828	150282089	47740341	2010	25961											
SIAH2	6478	broad.mit.edu	37	chr3	150460021	150460021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcgaaaacaaggcagtcGctgttcatgatggccgcagc	13	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:150460021G>A	uc003eyi.2	-	2	1509	c.882C>T	c.(880-882)AGC>AGT	p.S294S		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	294	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CAAGGCAGTCGCTGTTCATGA	0.498													A	150460021	G	A	150460021	2	1	27	1	0	0	0	0	0	0	0	1	14300	1078	38	1		1	SIAH2	3	150460021	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	177932	150460021	47562409	2011	25962											
MED12L	116931	broad.mit.edu	37	chr3	150845683	150845683	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgccaatggttcgagcAacgtggctgatcaagatgac	12	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:150845683A>G	uc003eyp.2	+	4	506	c.468A>G	c.(466-468)GCA>GCG	p.A156A	MED12L_uc011bnz.1_Silent_p.A156A|MED12L_uc003eym.1_Silent_p.A156A|MED12L_uc003eyn.2_Silent_p.A156A|MED12L_uc003eyo.2_Silent_p.A156A	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	156					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGTTCGAGCAACGTGGCTGA	0.353													G	150845683	A	G	150845683	2	3	27	1	0	0	0	0	0	0	0	1	9429	117	5	3		3	MED12L	3	150845683	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	385662	150845683	47176747	2012	25963											
MED12L	116931	broad.mit.edu	37	chr3	150874007	150874007	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccaagatttctgactttTaccacatggcctccagcacg	8	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:150874007T>C	uc003eyp.2	+	5	654	c.616T>C	c.(616-618)TAC>CAC	p.Y206H	MED12L_uc011bnz.1_Missense_Mutation_p.Y206H|MED12L_uc003eym.1_Missense_Mutation_p.Y206H|MED12L_uc003eyn.2_Missense_Mutation_p.Y206H|MED12L_uc003eyo.2_Missense_Mutation_p.Y206H	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	206					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCTGACTTTTACCACATGGC	0.453													C	150874007	T	C	150874007	3	2	27	1	0	0	0	0	1	0	0	0	9429	1754	61	3	634	3	MED12L	3	150874007	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	28324	150874007	47148423	2013	25964											
GPR87	53836	broad.mit.edu	37	chr3	151012189	151012189	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagattcatctaaaagcCtgtctaagtgactaaaagta	8	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:151012189C>A	uc003eyt.2	-	3	1206	c.845G>T	c.(844-846)AGG>ATG	p.R282M	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	282	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATCTAAAAGCCTGTCTAAGTG	0.353													A	151012189	C	A	151012189	3	1	27	1	0	0	0	0	1	0	0	0	6716	681	24	5	235	5	GPR87	3	151012189	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	138182	151012189	47010241	2014	25965											
GPR87	53836	broad.mit.edu	37	chr3	151012373	151012373	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgtaacatccgatcagaaTcaccagcacggccacaaaca	6	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:151012373T>C	uc003eyt.2	-	3	1022	c.661A>G	c.(661-663)ATT>GTT	p.I221V	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	221	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCGATCAGAATCACCAGCACG	0.453													C	151012373	T	C	151012373	3	2	27	1	0	0	0	0	1	0	0	0	6716	1435	50	3	419	3	GPR87	3	151012373	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	184	151012373	47010057	2015	25966											
P2RY13	53829	broad.mit.edu	37	chr3	151046686	151046686	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgccggtcaagaaaaccActgtgtagagggctgggaat	15	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:151046686A>G	uc003eyv.2	-	2	179	c.158T>C	c.(157-159)GTG>GCG	p.V53A	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	53	Helical; Name=1; (Potential).					integral to membrane|plasma membrane				ovary(3)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CAAGAAAACCACTGTGTAGAG	0.502													G	151046686	A	G	151046686	3	3	27	1	0	0	0	0	1	0	0	0	11350	159	6	3	910	3	P2RY13	3	151046686	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	34313	151046686	46975744	2016	25967											
P2RY12	64805	broad.mit.edu	37	chr3	151055700	151055700	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaattggggcacttcagcaTacttatcaaggaatttctga	9	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:151055700T>C	uc003eyw.1	-	2	1150	c.934A>G	c.(934-936)ATG>GTG	p.M312V	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_3'UTR|P2RY12_uc003eyx.1_Missense_Mutation_p.M312V	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y12	312	Cytoplasmic (Potential).				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	CACTTCAGCATACTTATCAAG	0.413													C	151055700	T	C	151055700	3	2	27	1	0	0	0	0	1	0	0	0	11349	1406	49	3	98	3	P2RY12	3	151055700	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9014	151055700	46966730	2017	25968											
MED12L	116931	broad.mit.edu	37	chr3	151085503	151085503	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatagcacgacagtgttttTccctggaggacgtcgtgcag	13	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:151085503T>C	uc003eyp.2	+	22	3330	c.3292T>C	c.(3292-3294)TCC>CCC	p.S1098P	MED12L_uc011bnz.1_Missense_Mutation_p.S958P|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.S261P	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1098					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACAGTGTTTTTCCCTGGAGGA	0.433													C	151085503	T	C	151085503	3	2	27	1	0	0	0	0	1	0	0	0	9429	1783	62	3	3378	3	MED12L	3	151085503	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	29803	151085503	46936927	2018	25969											
MED12L	116931	broad.mit.edu	37	chr3	151095820	151095820	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccgaacgcaggggtgTatggttggtggcccccctca	13	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:151095820T>C	uc003eyp.2	+	29	4270	c.4232T>C	c.(4231-4233)GTA>GCA	p.V1411A	MED12L_uc011bnz.1_Missense_Mutation_p.V1271A|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.V574A	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1411					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGCAGGGGTGTATGGTTGGTG	0.532													C	151095820	T	C	151095820	3	2	27	1	0	0	0	0	1	0	0	0	9429	1638	57	3	4346	3	MED12L	3	151095820	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	10317	151095820	46926610	2019	25970											
MED12L	116931	broad.mit.edu	37	chr3	151102876	151102876	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttcgacagttactaccttTgccgaaacagacatgtgatg	9	9	0	2	rs61740424		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:151102876T>C	uc003eyp.2	+	34	4918	c.4880T>C	c.(4879-4881)TTG>TCG	p.L1627S	MED12L_uc011bnz.1_Missense_Mutation_p.L1487S|P2RY12_uc011boa.1_5'Flank|P2RY12_uc003eyx.1_5'Flank|MED12L_uc003eyy.1_Missense_Mutation_p.L790S	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1627					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTACTACCTTTGCCGAAACAG	0.388													C	151102876	T	C	151102876	3	2	27	1	0	0	0	0	1	0	0	0	9429	1821	63	3	5014	3	MED12L	3	151102876	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	7056	151102876	46919554	2020	25971											
MED12L	116931	broad.mit.edu	37	chr3	151129193	151129193	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatccggccgcacattccaAccccgtgctaatggaaagac	8	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:151129193A>G	uc003eyp.2	+	39	5971	c.5933A>G	c.(5932-5934)AAC>AGC	p.N1978S	MED12L_uc011bnz.1_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1978	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCACATTCCAACCCCGTGCTA	0.592													G	151129193	A	G	151129193	3	3	27	1	0	0	0	0	1	0	0	0	9429	43	2	3	6087	3	MED12L	3	151129193	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	26317	151129193	46893237	2021	25972											
IGSF10	285313	broad.mit.edu	37	chr3	151161304	151161304	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagccacggtcataaatacTgagattgtggaggaccaatg	11	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:151161304T>C	uc011bod.1	-	5	5431	c.5431A>G	c.(5431-5433)AGT>GGT	p.S1811G	IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1811	Ig-like C2-type 4.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCATAAATACTGAGATTGTGG	0.478													C	151161304	T	C	151161304	3	2	27	1	0	0	0	0	1	0	0	0	7597	1580	55	3	2496	3	IGSF10	3	151161304	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	32111	151161304	46861126	2022	25973											
IGSF10	285313	broad.mit.edu	37	chr3	151164151	151164151	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggttatttacaaagttctgTtgccagggaattttccttct	8	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:151164151T>A	uc011bod.1	-	4	3618	c.3618A>T	c.(3616-3618)CAA>CAT	p.Q1206H		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1206					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAAAGTTCTGTTGCCAGGGAA	0.373													A	151164151	T	A	151164151	3	1	27	1	0	0	0	0	1	0	0	0	7597	1722	60	5	4313	5	IGSF10	3	151164151	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2847	151164151	46858279	2023	25974											
AADACL2	344752	broad.mit.edu	37	chr3	151458527	151458527	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccaaccactttcagatgaaTacatcacagtgactgataca	5	12	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:151458527T>A	uc003ezc.2	+	2	352	c.232T>A	c.(232-234)TAC>AAC	p.Y78N	AADACL2_uc010hvn.2_Intron	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2 precursor	78						extracellular region|integral to membrane	carboxylesterase activity				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCAGATGAATACATCACAGT	0.363													A	151458527	T	A	151458527	3	1	27	1	0	0	0	0	1	0	0	0	11	1406	49	5	238	5	AADACL2	3	151458527	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	294376	151458527	46563903	2024	25975											
AADACL2	344752	broad.mit.edu	37	chr3	151458575	151458575	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgacattccagtacgattgTacttgccaaaaagaaagtca	7	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:151458575T>A	uc003ezc.2	+	2	400	c.280T>A	c.(280-282)TAC>AAC	p.Y94N	AADACL2_uc010hvn.2_Intron	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2 precursor	94						extracellular region|integral to membrane	carboxylesterase activity				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AGTACGATTGTACTTGCCAAA	0.378													A	151458575	T	A	151458575	3	1	27	1	0	0	0	0	1	0	0	0	11	1638	57	5	286	5	AADACL2	3	151458575	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	48	151458575	46563855	2025	25976											
AADACL2	344752	broad.mit.edu	37	chr3	151474982	151474982	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaatgagaagaaaccaacAcatgcctctggagtcaagac	10	10	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:151474982A>C	uc003ezc.2	+	5	926	c.806A>C	c.(805-807)CAC>CCC	p.H269P	AADACL2_uc010hvn.2_Missense_Mutation_p.H56P	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2 precursor	269						extracellular region|integral to membrane	carboxylesterase activity				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AGAAACCAACACATGCCTCTG	0.393													C	151474982	A	C	151474982	3	2	27	1	0	0	0	0	1	0	0	0	11	159	6	5	824	5	AADACL2	3	151474982	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	16407	151474982	46547448	2026	25977											
AADAC	13	broad.mit.edu	37	chr3	151545685	151545686	+	Frame_Shift_Ins	INS	-	-	A													tggcagttctgagctggctaINSaaaaatatccagggttccta							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:151545684_151545685T>TA	uc003eze.3	+	4	1014_1015	c.924_925T>TA	c.(922-927)gctaaafs	p.A308fs		NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	308					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTGAGCTGGCTAAAAAATATCC	0.421													A	151545686	-	A	151545685	7	5	27	1	0	1	1	0	0	0	0	0	10	363	13	0	943	0	AADAC	3	151545685	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	70703	151545685	46476745	2027	25978											
SUCNR1	56670	broad.mit.edu	37	chr3	151598454	151598454	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgggagtccttggaaaTaccattgttgtttacggcta	12	6	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:151598454T>A	uc003ezf.1	+	3	222	c.123T>A	c.(121-123)AAT>AAA	p.N41K		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	41	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TCCTTGGAAATACCATTGTTG	0.423													A	151598454	T	A	151598454	3	1	27	1	0	0	0	0	1	0	0	0	15365	1403	49	5	129	5	SUCNR1	3	151598454	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	52769	151598454	46423976	2028	25979											
SGEF	26084	broad.mit.edu	37	chr3	153840495	153840495	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccgtggttttgagtacaaaCagccccgccgccctcaaagt	9	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:153840495C>G	uc011bog.1	+	2	925	c.714C>G	c.(712-714)AAC>AAG	p.N238K	uc003ezu.1_5'Flank|SGEF_uc011boh.1_Missense_Mutation_p.N238K	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	Src homology 3 domain-containing guanine	238					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGAGTACAAACAGCCCCGCCG	0.517													G	153840495	C	G	153840495	3	3	27	1	0	0	0	0	1	0	0	0	14205	477	17	5	716	5	SGEF	3	153840495	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2242041	153840495	44181935	2029	25980											
DHX36	170506	broad.mit.edu	37	chr3	154007584	154007584	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagacttgctctaagaccatTatacagatgatagcaatgac	7	8	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:154007584T>G	uc003ezy.3	-	16	1927	c.1846A>C	c.(1846-1848)AAT>CAT	p.N616H	DHX36_uc010hvq.2_Missense_Mutation_p.N602H|DHX36_uc003ezz.3_Missense_Mutation_p.N616H	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	616	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTAAGACCATTATACAGATGA	0.343													G	154007584	T	G	154007584	3	3	27	1	0	0	0	0	1	0	0	0	4509	1754	61	5	1220	5	DHX36	3	154007584	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	167089	154007584	44014846	2030	25981											
DHX36	170506	broad.mit.edu	37	chr3	154033048	154033048	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgagcatggtgtgttcttAgtagaaacttcagtaccgta	10	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:154033048A>G	uc003ezy.3	-	3	471	c.390T>C	c.(388-390)ACT>ACC	p.T130T	DHX36_uc010hvq.2_Silent_p.T130T|DHX36_uc003ezz.3_Silent_p.T130T	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	130	Potential.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GTGTGTTCTTAGTAGAAACTT	0.318													G	154033048	A	G	154033048	2	3	27	1	0	0	0	0	0	0	0	1	4509	407	15	3		3	DHX36	3	154033048	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	25464	154033048	43989382	2031	25982											
GPR149	344758	broad.mit.edu	37	chr3	154146892	154146892	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgcacgaaggcgccccaGccgcacagcgggagcgccga	16	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:154146892G>T	uc003faa.2	-	1	613	c.513C>A	c.(511-513)GGC>GGA	p.G171G		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	171	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGGCGCCCCAGCCGCACAGCG	0.667													T	154146892	G	T	154146892	2	4	27	1	0	0	0	0	0	0	0	1	6654	958	34	5		5	GPR149	3	154146892	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	113844	154146892	43875538	2032	25983											
MME	4311	broad.mit.edu	37	chr3	154834710	154834710	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgaattctaaatatgggAaaaaagtccttattaatttg	6	4	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:154834710A>G	uc010hvr.1	+	7	800	c.589A>G	c.(589-591)AAA>GAA	p.K197E	MME_uc003fab.1_Missense_Mutation_p.K197E|MME_uc003fac.1_Missense_Mutation_p.K197E|MME_uc003fad.1_Missense_Mutation_p.K197E|MME_uc003fae.1_Missense_Mutation_p.K197E	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	197	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TAAATATGGGAAAAAAGTCCT	0.299													G	154834710	A	G	154834710	3	3	27	1	0	0	0	0	1	0	0	0	9645	247	9	3	611	3	MME	3	154834710	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	687818	154834710	43187720	2033	25984											
PLCH1	23007	broad.mit.edu	37	chr3	155199955	155199955	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttctaaggccgctgtcttgGccttactagaaaggtcatca	9	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:155199955G>T	uc011bok.1	-	23	4161	c.3884C>A	c.(3883-3885)GCC>GAC	p.A1295D	PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.A1257D	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	1295					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CGCTGTCTTGGCCTTACTAGA	0.473													T	155199955	G	T	155199955	3	4	27	1	0	0	0	0	1	0	0	0	12037	1203	42	5	1201	5	PLCH1	3	155199955	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	365245	155199955	42822475	2034	25985											
PLCH1	23007	broad.mit.edu	37	chr3	155210593	155210593	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataactttcaggatgagctgCtttttggggttggcaggaag	14	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:155210593C>T	uc011bok.1	-	17	2473	c.2196G>A	c.(2194-2196)AAG>AAA	p.K732K	PLCH1_uc011boj.1_Silent_p.K732K|PLCH1_uc011bol.1_Silent_p.K714K	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	732	C2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGATGAGCTGCTTTTTGGGGT	0.468													T	155210593	C	T	155210593	2	4	27	1	0	0	0	0	0	0	0	1	12037	796	28	2		2	PLCH1	3	155210593	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	10638	155210593	42811837	2035	25986											
PLCH1	23007	broad.mit.edu	37	chr3	155210640	155210640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagagaaagggttgaaagTacctaggccaagtaaagtat	11	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:155210640T>C	uc011bok.1	-	17	2426	c.2149A>G	c.(2149-2151)ACT>GCT	p.T717A	PLCH1_uc011boj.1_Missense_Mutation_p.T717A|PLCH1_uc011bol.1_Missense_Mutation_p.T699A	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	717					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGGTTGAAAGTACCTAGGCCA	0.423													C	155210640	T	C	155210640	3	2	27	1	0	0	0	0	1	0	0	0	12037	1638	57	3	2975	3	PLCH1	3	155210640	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	47	155210640	42811790	2036	25987											
PLCH1	23007	broad.mit.edu	37	chr3	155232571	155232571	+	Missense_Mutation	SNP	A	A	G													cagtagtgcccgcactgtgaAactatcaggatcttctttat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:155232571A>G	uc011bok.1	-	11	1814	c.1537T>C	c.(1537-1539)TTC>CTC	p.F513L	PLCH1_uc011boj.1_Missense_Mutation_p.F513L|PLCH1_uc011bol.1_Missense_Mutation_p.F495L	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	513					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CGCACTGTGAAACTATCAGGA	0.418													G	155232571	A	G	155232571	3	3	27	1	0	0	0	0	1	0	0	0	12037	14	1	3	3611	3	PLCH1	3	155232571	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	21931	155232571	42789859	2037	25988	88	2									
PLCH1	23007	broad.mit.edu	37	chr3	155232581	155232581	+	Missense_Mutation	SNP	A	A	T													cgcactgtgaaactatcaggAtcttctttatctcgaatttg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:155232581A>T	uc011bok.1	-	11	1804	c.1527T>A	c.(1525-1527)GAT>GAA	p.D509E	PLCH1_uc011boj.1_Missense_Mutation_p.D509E|PLCH1_uc011bol.1_Missense_Mutation_p.D491E	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	509					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACTATCAGGATCTTCTTTAT	0.428													T	155232581	A	T	155232581	3	4	27	1	0	0	0	0	1	0	0	0	12037	330	12	5	3621	5	PLCH1	3	155232581	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	10	155232581	42789849	2038	25989	88	2									
PLCH1	23007	broad.mit.edu	37	chr3	155314063	155314063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggtcgccatcggaggcGtgtccggtgctcatccaggt	16	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:155314063G>A	uc011bok.1	-	2	425	c.148C>T	c.(148-150)CGC>TGC	p.R50C	PLCH1_uc011boj.1_Missense_Mutation_p.R50C|PLCH1_uc011bol.1_Missense_Mutation_p.R32C	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	50	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CATCGGAGGCGTGTCCGGTGC	0.483													A	155314063	G	A	155314063	3	1	27	1	0	0	0	0	1	0	0	0	12037	1145	40	1	5036	1	PLCH1	3	155314063	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	81482	155314063	42708367	2039	25990											
SLC33A1	9197	broad.mit.edu	37	chr3	155551721	155551721	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgataatcagaggcagtAttatctgcaaaggaaccatt	9	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:155551721A>G	uc003fan.3	-	3	1454	c.1073T>C	c.(1072-1074)ATA>ACA	p.I358T	SLC33A1_uc003fao.1_Missense_Mutation_p.I358T	NM_004733	NP_004724	O00400	ACATN_HUMAN	acetyl-coenzyme A transporter	358	Helical; (Potential).				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			ovary(2)|large_intestine(1)|pancreas(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAGAGGCAGTATTATCTGCAA	0.408													G	155551721	A	G	155551721	3	3	27	1	0	0	0	0	1	0	0	0	14566	449	16	3	592	3	SLC33A1	3	155551721	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	237658	155551721	42470709	2040	25991											
SLC33A1	9197	broad.mit.edu	37	chr3	155571069	155571069	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaaatatttgttacaaaAgtcggcagattcaagggcca	9	9	1	1	rs145201278		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:155571069A>G	uc003fan.3	-	1	1099	c.718T>C	c.(718-720)TTT>CTT	p.F240L	SLC33A1_uc003fao.1_Missense_Mutation_p.F240L	NM_004733	NP_004724	O00400	ACATN_HUMAN	acetyl-coenzyme A transporter	240	Extracellular (Potential).				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			ovary(2)|large_intestine(1)|pancreas(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTGTTACAAAAGTCGGCAGAT	0.408													G	155571069	A	G	155571069	3	3	27	1	0	0	0	0	1	0	0	0	14566	72	3	3	955	3	SLC33A1	3	155571069	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	19348	155571069	42451361	2041	25992											
GMPS	8833	broad.mit.edu	37	chr3	155624029	155624029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggattcaaggttgtggCacgttctggaaacatagtag	13	5	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:155624029C>T	uc003faq.2	+	5	838	c.503C>T	c.(502-504)GCA>GTA	p.A168V	GMPS_uc011bom.1_Missense_Mutation_p.A69V	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	168	Glutamine amidotransferase type-1.				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AAGGTTGTGGCACGTTCTGGA	0.353			T	MLL	AML								T	155624029	C	T	155624029	3	4	27	1	0	0	0	0	1	0	0	0	6498	710	25	2	521	2	GMPS	3	155624029	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	52960	155624029	42398401	2042	25993											
KCNAB1	7881	broad.mit.edu	37	chr3	156241671	156241671	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagggagaaaacagcaaaAcaagctaaaagacctttccc	8	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:156241671A>C	uc003far.2	+	12	1080	c.1016A>C	c.(1015-1017)AAC>ACC	p.N339T	KCNAB1_uc011bon.1_Missense_Mutation_p.N310T|KCNAB1_uc003fas.2_Missense_Mutation_p.N328T|KCNAB1_uc003fat.2_Missense_Mutation_p.N321T|KCNAB1_uc010hvt.1_Missense_Mutation_p.N292T|KCNAB1_uc011boo.1_Missense_Mutation_p.N215T	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related	339						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AAACAGCAAAACAAGCTAAAA	0.428													C	156241671	A	C	156241671	3	2	27	1	0	0	0	0	1	0	0	0	8009	43	2	5	1533	5	KCNAB1	3	156241671	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	617642	156241671	41780759	2043	25994											
TIPARP	25976	broad.mit.edu	37	chr3	156395462	156395462	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaggatttttagactctgaGgagcagttggagctaatcca	12	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:156395462G>T	uc003fav.2	+	2	224	c.-24G>T	c.(-26--22)GAGGA>GATGA		LOC100287227_uc011boq.1_5'Flank|TIPARP_uc003faw.2_Translation_Start_Site	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase								NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|breast(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TAGACTCTGAGGAGCAGTTGG	0.423													T	156395462	G	T	156395462	1	4	27	1	0	0	0	0	0	0	0	0	15921	1015	35	5		5	TIPARP	3	156395462	Translation_Start_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	153791	156395462	41626968	2044	25995											
TIPARP	25976	broad.mit.edu	37	chr3	156422589	156422589	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatctgcaaacacaactttgAccctcgagtctgtggaaagc	8	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:156422589A>C	uc003fav.2	+	6	1891	c.1643A>C	c.(1642-1644)GAC>GCC	p.D548A	TIPARP_uc003faw.2_Missense_Mutation_p.D548A	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	548	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|breast(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CACAACTTTGACCCTCGAGTC	0.403													C	156422589	A	C	156422589	3	2	27	1	0	0	0	0	1	0	0	0	15921	275	10	5	1661	5	TIPARP	3	156422589	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	27127	156422589	41599841	2045	25996											
VEPH1	79674	broad.mit.edu	37	chr3	156979019	156979019	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttctgcattcttctcatcCttggccttaaagacataggt	6	11	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:156979019C>A	uc003fbj.1	-	14	2723	c.2406G>T	c.(2404-2406)AAG>AAT	p.K802N	VEPH1_uc003fbk.1_Missense_Mutation_p.K802N|VEPH1_uc010hvu.1_Missense_Mutation_p.K757N	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	802	PH.					plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TCTTCTCATCCTTGGCCTTAA	0.483													A	156979019	C	A	156979019	3	1	27	1	0	0	0	0	1	0	0	0	17151	680	24	5	99	5	VEPH1	3	156979019	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	556430	156979019	41043411	2046	25997											
VEPH1	79674	broad.mit.edu	37	chr3	157004378	157004378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggattgttgcacatgaagCattgccatgctcctgctgtt	10	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:157004378C>T	uc003fbj.1	-	12	2413	c.2096G>A	c.(2095-2097)TGC>TAC	p.C699Y	VEPH1_uc003fbk.1_Missense_Mutation_p.C699Y|VEPH1_uc010hvu.1_Missense_Mutation_p.C654Y	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	699						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GCACATGAAGCATTGCCATGC	0.488													T	157004378	C	T	157004378	3	4	27	1	0	0	0	0	1	0	0	0	17151	710	25	2	417	2	VEPH1	3	157004378	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	25359	157004378	41018052	2047	25998											
VEPH1	79674	broad.mit.edu	37	chr3	157031509	157031509	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctgaggaattgcacagaAtgactctgaatggacagggg	14	7	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:157031509A>G	uc003fbj.1	-	11	2228	c.1911T>C	c.(1909-1911)CAT>CAC	p.H637H	VEPH1_uc003fbk.1_Silent_p.H637H|VEPH1_uc010hvu.1_Intron	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	637						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ATTGCACAGAATGACTCTGAA	0.473													G	157031509	A	G	157031509	2	3	27	1	0	0	0	0	0	0	0	1	17151	98	4	3		3	VEPH1	3	157031509	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	27131	157031509	40990921	2048	25999											
GFM1	85476	broad.mit.edu	37	chr3	158364621	158364621	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgttggaggggtacagTgccagaccatgactgtcaat	14	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:158364621T>C	uc003fce.2	+	4	564	c.457T>C	c.(457-459)TGC>CGC	p.C153R	GFM1_uc003fcd.2_Missense_Mutation_p.C153R|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Missense_Mutation_p.C65R	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1 precursor	153					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AGGGGTACAGTGCCAGACCAT	0.493													C	158364621	T	C	158364621	3	2	27	1	0	0	0	0	1	0	0	0	6341	1696	59	3	471	3	GFM1	3	158364621	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1333112	158364621	39657809	2049	26000											
GFM1	85476	broad.mit.edu	37	chr3	158369951	158369951	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccactgaccaccggcaggaGctaattgaatgtgttgccaa	11	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:158369951G>A	uc003fce.2	+	6	863	c.756G>A	c.(754-756)GAG>GAA	p.E252E	GFM1_uc003fcd.2_Silent_p.E252E|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Silent_p.E183E	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1 precursor	252					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			ACCGGCAGGAGCTAATTGAAT	0.418													A	158369951	G	A	158369951	2	1	27	1	0	0	0	0	0	0	0	1	6341	962	34	2		2	GFM1	3	158369951	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5330	158369951	39652479	2050	26001											
MFSD1	64747	broad.mit.edu	37	chr3	158538089	158538089	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtctgctattatgttgcTgtgttcccttttattggact	9	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:158538089T>G	uc003fcl.1	+	9	867	c.837T>G	c.(835-837)GCT>GCG	p.A279A	MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_Silent_p.A182A|MFSD1_uc011bow.1_Silent_p.A240A|MFSD1_uc011box.1_Silent_p.A206A	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing	279	Helical; (Potential).				transmembrane transport	integral to membrane					0			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATTATGTTGCTGTGTTCCCTT	0.333													G	158538089	T	G	158538089	2	3	27	1	0	0	0	0	0	0	0	1	9527	1567	55	5		5	MFSD1	3	158538089	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	168138	158538089	39484341	2051	26002											
IFT80	57560	broad.mit.edu	37	chr3	160099392	160099392	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagggtaaatatcatcaggaAgctttactatttgagttgtt	9	4	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:160099392A>G	uc011boy.1	-	3	591	c.158T>C	c.(157-159)CTT>CCT	p.L53P	IFT80_uc003fda.2_Intron|IFT80_uc003fdb.1_5'UTR|IFT80_uc003fdd.1_5'UTR|IFT80_uc003fde.1_5'UTR	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	WD repeat domain 56	53						cilium axoneme|microtubule basal body				ovary(1)	1			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATCATCAGGAAGCTTTACTAT	0.398													G	160099392	A	G	160099392	3	3	27	1	0	0	0	0	1	0	0	0	7564	72	3	3	2247	3	IFT80	3	160099392	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1561303	160099392	37923038	2052	26003											
SMC4	10051	broad.mit.edu	37	chr3	160120549	160120550	+	Frame_Shift_Ins	INS	-	-	A													gtgtttggctatcgagcacaINSaaaaataagatctaaaaaac							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:160120548_160120549C>CA	uc003fdh.3	+	3	516_517	c.403_404C>CA	c.(403-405)caafs	p.Q135fs	IFT80_uc003fda.3_Intron|SMC4_uc003fdf.1_Non-coding_Transcript|SMC4_uc003fdg.1_Frame_Shift_Ins_p.Q135fs|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.3_Frame_Shift_Ins_p.Q110fs|SMC4_uc003fdj.3_Frame_Shift_Ins_p.Q135fs|SMC4_uc010hwd.3_Frame_Shift_Ins_p.Q135fs|MIR15B_uc011boz.1_5'Flank|MIR16-2_uc003fdk.3_5'Flank	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	135					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTATCGAGCACAAAAAATAAGA	0.327													A	160120550	-	A	160120549	7	5	27	1	0	1	1	0	0	0	0	0	14785	130	5	0	414	0	SMC4	3	160120549	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	21157	160120549	37901881	2053	26004											
SMC4	10051	broad.mit.edu	37	chr3	160146611	160146611	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcttacacaataccatcgtAgaaatcaataatcataaact	3	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:160146611A>G	uc003fdh.2	+	18	2789	c.2676A>G	c.(2674-2676)GTA>GTG	p.V892V	IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Silent_p.V867V|SMC4_uc003fdj.2_Silent_p.V892V|SMC4_uc010hwd.2_Silent_p.V892V|SMC4_uc003fdl.2_Silent_p.V595V	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	892	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATACCATCGTAGAAATCAATA	0.333													G	160146611	A	G	160146611	2	3	27	1	0	0	0	0	0	0	0	1	14785	407	15	3		3	SMC4	3	160146611	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	26062	160146611	37875819	2054	26005											
TRIM59	286827	broad.mit.edu	37	chr3	160155817	160155817	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatagaaaatgtgacacagTatattctttaccttatgcag	6	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:160155817T>C	uc003fdm.2	-	3	1350	c.1155A>G	c.(1153-1155)ATA>ATG	p.I385M	IFT80_uc003fda.2_Intron	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	tripartite motif-containing 59	385						integral to membrane|intracellular	zinc ion binding				0			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGTGACACAGTATATTCTTTA	0.308													C	160155817	T	C	160155817	3	2	27	1	0	0	0	0	1	0	0	0	16529	1628	57	3	60	3	TRIM59	3	160155817	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9206	160155817	37866613	2055	26006											
B3GALNT1	8706	broad.mit.edu	37	chr3	160804562	160804562	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacagcagctcagaagcaCgcgagccgaaggttctggaa	12	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:160804562C>T	uc003fdv.2	-	5	400	c.-19G>A	c.(-21--17)GCGTG>GCATG		B3GALNT1_uc003fdw.2_Translation_Start_Site|B3GALNT1_uc003fdx.2_Translation_Start_Site|B3GALNT1_uc003fdy.2_Translation_Start_Site|B3GALNT1_uc003fdz.2_Translation_Start_Site|B3GALNT1_uc003fea.2_Translation_Start_Site|B3GALNT1_uc011bpa.1_Translation_Start_Site	NM_033169	NP_149359	O75752	B3GL1_HUMAN	UDP-Gal:betaGlcNAc beta						protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			CTCAGAAGCACGCGAGCCGAA	0.488													T	160804562	C	T	160804562	1	4	27	1	0	0	0	0	0	0	0	0	1245	551	19	1		1	B3GALNT1	3	160804562	Translation_Start_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	648745	160804562	37217868	2056	26007											
NMD3	51068	broad.mit.edu	37	chr3	160951189	160951189	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtgttttattgaaggtAcggcttgtagatgcaggctt	13	4	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:160951189A>G	uc003feb.1	+	5	398	c.279A>G	c.(277-279)GTA>GTG	p.V93V	NMD3_uc003fec.2_Silent_p.V93V|NMD3_uc003fed.1_Silent_p.V93V|NMD3_uc010hwh.2_5'Flank	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	NMD3 homolog	93					protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TATTGAAGGTACGGCTTGTAG	0.353													G	160951189	A	G	160951189	2	3	27	1	0	0	0	0	0	0	0	1	10488	378	14	3		3	NMD3	3	160951189	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	146627	160951189	37071241	2057	26008											
SI	6476	broad.mit.edu	37	chr3	164750471	164750471	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgaatgtgtgcacacaatatCtaatgtgttctgagaaaaat	8	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:164750471C>G	uc003fei.2	-	24	2637	c.2575G>C	c.(2575-2577)GAT>CAT	p.D859H		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	859	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CACACAATATCTAATGTGTTC	0.323										HNSCC(35;0.089)			G	164750471	C	G	164750471	3	3	27	1	0	0	0	0	1	0	0	0	14297	913	32	5	3008	5	SI	3	164750471	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3799282	164750471	33271959	2058	26009											
SI	6476	broad.mit.edu	37	chr3	164764647	164764647	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaaaggtattccaaacaaActgaactccagcattccagt	5	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:164764647A>G	uc003fei.2	-	16	1931	c.1869T>C	c.(1867-1869)AGT>AGC	p.S623S		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	623	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTCCAAACAAACTGAACTCCA	0.338										HNSCC(35;0.089)			G	164764647	A	G	164764647	2	3	27	1	0	0	0	0	0	0	0	1	14297	40	2	3		3	SI	3	164764647	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	14176	164764647	33257783	2059	26010											
SLITRK3	22865	broad.mit.edu	37	chr3	164906123	164906123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagggtgatggtgattcacCgtcactatggtgttaagctg	14	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:164906123C>T	uc003fej.3	-	2	2940	c.2496G>A	c.(2494-2496)ACG>ACA	p.T832T	SLITRK3_uc003fek.2_Silent_p.T832T	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	832	Cytoplasmic (Potential).					integral to membrane		p.T832M(1)		ovary(6)|skin(3)|pancreas(1)	10						GGTGATTCACCGTCACTATGG	0.547										HNSCC(40;0.11)			T	164906123	C	T	164906123	2	4	27	1	0	0	0	0	0	0	0	1	14744	639	23	1		1	SLITRK3	3	164906123	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	141476	164906123	33116307	2060	26011											
BCHE	590	broad.mit.edu	37	chr3	165547744	165547744	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagccaggagcaccatAgactaaaaaagctgtccctt	9	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:165547744A>G	uc003fem.3	-	2	1238	c.1078T>C	c.(1078-1080)TAT>CAT	p.Y360H	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	360					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GGAGCACCATAGACTAAAAAA	0.353													G	165547744	A	G	165547744	3	3	27	1	0	0	0	0	1	0	0	0	1358	420	15	3	742	3	BCHE	3	165547744	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	641621	165547744	32474686	2061	26012											
SERPINI2	5276	broad.mit.edu	37	chr3	167189553	167189553	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcaaattcggtatttttttGagctgagcatcttgaggctt	10	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:167189553G>A	uc003fer.1	-	1	128	c.70C>T	c.(70-72)CAA>TAA	p.Q24*	SERPINI2_uc003fes.1_Nonsense_Mutation_p.Q34*|SERPINI2_uc003fet.1_Nonsense_Mutation_p.Q24*	NM_006217	NP_006208	O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin),	24					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(2)|urinary_tract(1)	3						GTATTTTTTTGAGCTGAGCAT	0.348													A	167189553	G	A	167189553	4	1	27	1	0	0	0	0	0	1	0	0	14119	1299	45	4	1179	4	SERPINI2	3	167189553	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1641809	167189553	30832877	2062	26013											
PDCD10	11235	broad.mit.edu	37	chr3	167422672	167422672	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtctgggctgcagacagattTactcgttctagctgcaataa	10	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:167422672T>A	uc003fex.2	-	4	506	c.108A>T	c.(106-108)GTA>GTT	p.V36V	PDCD10_uc003fez.2_Silent_p.V36V|PDCD10_uc003fey.2_Silent_p.V36V	NM_007217	NP_009148	Q9BUL8	PDC10_HUMAN	programmed cell death 10	36					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			lung(1)|central_nervous_system(1)	2						CAGACAGATTTACTCGTTCTA	0.333									Familial_Cerebral_Cavernous_Angioma				A	167422672	T	A	167422672	2	1	27	1	0	0	0	0	0	0	0	1	11616	1741	61	5		5	PDCD10	3	167422672	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	233119	167422672	30599758	2063	26014											
MECOM	2122	broad.mit.edu	37	chr3	168833263	168833263	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgacgttgcttccttttttTcccccaaacacgtggttttt	6	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:168833263T>C	uc003ffi.3	-	7	2102	c.1833A>G	c.(1831-1833)GGA>GGG	p.G611G	MECOM_uc010hwk.1_Silent_p.G634G|MECOM_uc003ffj.3_Silent_p.G676G|MECOM_uc011bpi.1_Silent_p.G612G|MECOM_uc003ffn.3_Silent_p.G611G|MECOM_uc003ffk.2_Silent_p.G611G|MECOM_uc003ffl.2_Silent_p.G771G|MECOM_uc011bpj.1_Silent_p.G799G|MECOM_uc011bpk.1_Silent_p.G601G|MECOM_uc010hwn.2_Silent_p.G799G	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	611					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						TTCCTTTTTTTCCCCCAAACA	0.498													C	168833263	T	C	168833263	2	2	27	1	0	0	0	0	0	0	0	1	9422	1770	62	3		3	MECOM	3	168833263	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1410591	168833263	29189167	2064	26015											
MECOM	2122	broad.mit.edu	37	chr3	169099286	169099286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttccaaaggtatttcagGgtagttgccatatacacact	7	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:169099286G>A	uc011bpj.1	-	2	467	c.64C>T	c.(64-66)CCT>TCT	p.P22S	MECOM_uc003ffl.2_5'UTR|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.P22S|MECOM_uc011bpl.1_Missense_Mutation_p.P22S	NM_004991	NP_004982	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform c	Error:Variant_position_missing_in_Q03112_after_alignment					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R22C(1)		lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						GGTATTTCAGGGTAGTTGCCA	0.433													A	169099286	G	A	169099286	3	1	27	1	0	0	0	0	1	0	0	0	9422	1232	43	4	3729	4	MECOM	3	169099286	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	266023	169099286	28923144	2065	26016											
MYNN	55892	broad.mit.edu	37	chr3	169497203	169497203	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggccaagccaatgtgtaAcacatgtgggaaagtgtttt	11	7	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:169497203A>G	uc003fft.2	+	3	1343	c.914A>G	c.(913-915)AAC>AGC	p.N305S	MYNN_uc011bpm.1_Missense_Mutation_p.N191S|MYNN_uc003ffu.2_Missense_Mutation_p.N305S|MYNN_uc003ffv.2_Missense_Mutation_p.N32S|MYNN_uc010hwo.2_Missense_Mutation_p.N305S|MYNN_uc003ffw.1_RNA	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	myoneurin	305	C2H2-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CCAATGTGTAACACATGTGGG	0.468													G	169497203	A	G	169497203	3	3	27	1	0	0	0	0	1	0	0	0	10061	43	2	3	920	3	MYNN	3	169497203	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	397917	169497203	28525227	2066	26017											
LRRC31	79782	broad.mit.edu	37	chr3	169574164	169574164	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtgataatccacatgaatgTaacttcagtactttcagatt	6	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:169574164T>A	uc003fgc.1	-	5	860	c.783A>T	c.(781-783)TTA>TTT	p.L261F	LRRC31_uc010hwp.1_Missense_Mutation_p.L205F	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	261	LRR 2.									ovary(2)|skin(1)	3	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CACATGAATGTAACTTCAGTA	0.313													A	169574164	T	A	169574164	3	1	27	1	0	0	0	0	1	0	0	0	8986	1635	57	5	895	5	LRRC31	3	169574164	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	76961	169574164	28448266	2067	26018											
GPR160	26996	broad.mit.edu	37	chr3	169801907	169801907	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaggaatgagaagaaaaaaCacctgtcaaaattttatgga	8	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:169801907C>T	uc003fgi.2	+	4	737	c.147C>T	c.(145-147)AAC>AAT	p.N49N	GPR160_uc010hwq.2_Silent_p.N49N	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	49	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAGAAAAAACACCTGTCAAA	0.303													T	169801907	C	T	169801907	2	4	27	1	0	0	0	0	0	0	0	1	6664	477	17	4		4	GPR160	3	169801907	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	227743	169801907	28220523	2068	26019											
GPR160	26996	broad.mit.edu	37	chr3	169802241	169802241	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgggagacccagccatcTaccaaagcctgaaggcacag	10	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:169802241T>C	uc003fgi.2	+	4	1071	c.481T>C	c.(481-483)TAC>CAC	p.Y161H	GPR160_uc010hwq.2_Missense_Mutation_p.Y161H	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	161	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CCCAGCCATCTACCAAAGCCT	0.353													C	169802241	T	C	169802241	3	2	27	1	0	0	0	0	1	0	0	0	6664	1522	53	3	483	3	GPR160	3	169802241	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	334	169802241	28220189	2069	26020											
PHC3	80012	broad.mit.edu	37	chr3	169831155	169831155	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacccacaaaccttcagcAatcatgtcttccatctctgt	4	14	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:169831155A>G	uc010hws.1	-	11	2374	c.2310T>C	c.(2308-2310)ATT>ATC	p.I770I	PHC3_uc003fgl.2_Silent_p.I782I|PHC3_uc011bpq.1_Silent_p.I729I	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	polyhomeotic like 3	770					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AACCTTCAGCAATCATGTCTT	0.353													G	169831155	A	G	169831155	2	3	27	1	0	0	0	0	0	0	0	1	11818	126	5	3		3	PHC3	3	169831155	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	28914	169831155	28191275	2070	26021											
PRKCI	5584	broad.mit.edu	37	chr3	169953064	169953064	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttccatctcctttgagggcCtttgcaatgaggttcgagac	10	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:169953064C>A	uc003fgs.2	+	2	386	c.148C>A	c.(148-150)CTT>ATT	p.L50I		NM_002740	NP_002731	P41743	KPCI_HUMAN	protein kinase C, iota	50	Regulatory domain.|OPR.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CTTTGAGGGCCTTTGCAATGA	0.388													A	169953064	C	A	169953064	3	1	27	1	0	0	0	0	1	0	0	0	12514	681	24	5	154	5	PRKCI	3	169953064	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	121909	169953064	28069366	2071	26022											
SLC7A14	57709	broad.mit.edu	37	chr3	170219127	170219127	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgaactccaaactctgcataGcagacgcctgcaagggacag	10	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:170219127G>T	uc003fgz.2	-	3	628	c.312C>A	c.(310-312)TGC>TGA	p.C104*	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	104						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			ACTCTGCATAGCAGACGCCTG	0.498													T	170219127	G	T	170219127	4	4	27	1	0	0	0	0	0	1	0	0	14696	963	34	5	2027	5	SLC7A14	3	170219127	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	266063	170219127	27803303	2072	26023											
SLC7A14	57709	broad.mit.edu	37	chr3	170244439	170244439	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tacctgataatatggatgcgAcggctgcaatgatgaaggac	12	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:170244439A>T	uc003fgz.2	-	2	603	c.287T>A	c.(286-288)GTC>GAC	p.V96D	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	96	Helical; (Potential).					integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TATGGATGCGACGGCTGCAAT	0.522													T	170244439	A	T	170244439	3	4	27	1	0	0	0	0	1	0	0	0	14696	275	10	5	2056	5	SLC7A14	3	170244439	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	25312	170244439	27777991	2073	26024											
TNIK	23043	broad.mit.edu	37	chr3	170885049	170885049	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctctcaataaatgactggaAtttttttgacctgccaaaca	6	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:170885049A>T	uc003fhh.2	-	10	1129	c.784T>A	c.(784-786)TTC>ATC	p.F262I	TNIK_uc003fhi.2_Missense_Mutation_p.F262I|TNIK_uc003fhj.2_Missense_Mutation_p.F262I|TNIK_uc003fhk.2_Missense_Mutation_p.F262I|TNIK_uc003fhl.2_Missense_Mutation_p.F262I|TNIK_uc003fhm.2_Missense_Mutation_p.F262I|TNIK_uc003fhn.2_Missense_Mutation_p.F262I|TNIK_uc003fho.2_Missense_Mutation_p.F262I	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	262	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AATGACTGGAATTTTTTTGAC	0.378													T	170885049	A	T	170885049	3	4	27	1	0	0	0	0	1	0	0	0	16310	101	4	5	3394	5	TNIK	3	170885049	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	640610	170885049	27137381	2074	26025											
TNIK	23043	broad.mit.edu	37	chr3	170945964	170945964	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agacacttacccctgtgacaTccataaccttgatggctgca	7	13	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:170945964T>A	uc003fhh.2	-	3	515	c.170A>T	c.(169-171)GAT>GTT	p.D57V	TNIK_uc003fhi.2_Missense_Mutation_p.D57V|TNIK_uc003fhj.2_Missense_Mutation_p.D57V|TNIK_uc003fhk.2_Missense_Mutation_p.D57V|TNIK_uc003fhl.2_Missense_Mutation_p.D57V|TNIK_uc003fhm.2_Missense_Mutation_p.D57V|TNIK_uc003fhn.2_Missense_Mutation_p.D57V|TNIK_uc003fho.2_Missense_Mutation_p.D57V	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	57	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCCTGTGACATCCATAACCTT	0.289													A	170945964	T	A	170945964	3	1	27	1	0	0	0	0	1	0	0	0	16310	1435	50	5	4036	5	TNIK	3	170945964	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	60915	170945964	27076466	2075	26026											
PLD1	5337	broad.mit.edu	37	chr3	171431737	171431737	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctgtctccttcttccccAccttaattttgaattctttg	3	12	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:171431737A>G	uc003fhs.2	-	9	973	c.857T>C	c.(856-858)GTG>GCG	p.V286A	PLD1_uc003fht.2_Missense_Mutation_p.V286A	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	286	PH.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTTCTTCCCCACCTTAATTTT	0.343													G	171431737	A	G	171431737	3	3	27	1	0	0	0	0	1	0	0	0	12045	159	6	3	2443	3	PLD1	3	171431737	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	485773	171431737	26590693	2076	26027											
PLD1	5337	broad.mit.edu	37	chr3	171455832	171455832	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttacccgtggctcgttttTcagtgacatgttaactttgg	9	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:171455832T>C	uc003fhs.2	-	2	126	c.10A>G	c.(10-12)AAA>GAA	p.K4E	PLD1_uc003fht.2_Missense_Mutation_p.K4E	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	4					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GGCTCGTTTTTCAGTGACATG	0.408													C	171455832	T	C	171455832	3	2	27	1	0	0	0	0	1	0	0	0	12045	1792	62	3	3318	3	PLD1	3	171455832	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	24095	171455832	26566598	2077	26028											
FNDC3B	64778	broad.mit.edu	37	chr3	172046865	172046865	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaaacgacattggtaccAggtatgacgtttccttgtcc	9	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:172046865A>G	uc003fhy.2	+	12	1550	c.1378A>G	c.(1378-1380)AGT>GGT	p.S460G	FNDC3B_uc003fhz.3_Missense_Mutation_p.S460G|FNDC3B_uc003fia.2_Missense_Mutation_p.S391G	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	460	Fibronectin type-III 2.					endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CATTGGTACCAGGTATGACGT	0.527													G	172046865	A	G	172046865	3	3	27	1	0	0	0	0	1	0	0	0	5970	202	7	3	1420	3	FNDC3B	3	172046865	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	591033	172046865	25975565	2078	26029											
GHSR	2693	broad.mit.edu	37	chr3	172165751	172165751	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttggtgaccaccaccttGgcccggagtgggaagcagat	13	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:172165751G>A	uc003fib.1	-	1	453	c.453C>T	c.(451-453)GCC>GCT	p.A151A	GHSR_uc011bpv.1_Silent_p.A151A	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	151	Cytoplasmic (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			lung(3)|ovary(1)|central_nervous_system(1)	5	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCACCACCTTGGCCCGGAGTG	0.632													A	172165751	G	A	172165751	2	1	27	1	0	0	0	0	0	0	0	1	6375	1335	47	4		4	GHSR	3	172165751	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	118886	172165751	25856679	2079	26030											
ECT2	1894	broad.mit.edu	37	chr3	172473166	172473166	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttataaaagccttaaaggTacggagttttaggttttagt	9	4	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:172473166T>C	uc003fii.2	+	3	348	c.210_splice	c.e3+2	p.K70_splice	ECT2_uc010hwv.1_Splice_Site_p.K70_splice|ECT2_uc003fih.2_Splice_Site_p.K69_splice|ECT2_uc003fij.1_Splice_Site_p.K70_splice|ECT2_uc003fik.1_Splice_Site_p.K70_splice|ECT2_uc003fil.1_Splice_Site_p.K70_splice	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			GCCTTAAAGGTACGGAGTTTT	0.308													C	172473166	T	C	172473166	5	2	27	1	0	0	0	0	0	0	1	0	4901	1652	57	3	218	3	ECT2	3	172473166	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	307415	172473166	25549264	2080	26031											
ECT2	1894	broad.mit.edu	37	chr3	172482158	172482158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtcgtttaaaagaaacaCttgctcagctttcaagagag	9	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:172482158C>T	uc003fii.2	+	11	1204	c.1066C>T	c.(1066-1068)CTT>TTT	p.L356F	ECT2_uc010hwv.1_Missense_Mutation_p.L387F|ECT2_uc003fih.2_Missense_Mutation_p.L355F|ECT2_uc003fij.1_Missense_Mutation_p.L356F|ECT2_uc003fik.1_Missense_Mutation_p.L356F|ECT2_uc003fil.1_Missense_Mutation_p.L387F	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	356					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAAAGAAACACTTGCTCAGCT	0.453													T	172482158	C	T	172482158	3	4	27	1	0	0	0	0	1	0	0	0	4901	565	20	4	1104	4	ECT2	3	172482158	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	8992	172482158	25540272	2081	26032											
SPATA16	83893	broad.mit.edu	37	chr3	172607409	172607409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatttttgttttttgccttCgagcagttctcagtttttta	6	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:172607409C>T	uc003fin.3	-	11	1819	c.1661G>A	c.(1660-1662)CGA>CAA	p.R554Q		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	554					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTTTTGCCTTCGAGCAGTTCT	0.378													T	172607409	C	T	172607409	3	4	27	1	0	0	0	0	1	0	0	0	15000	884	31	1	52	1	SPATA16	3	172607409	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	125251	172607409	25415021	2082	26033											
NLGN1	22871	broad.mit.edu	37	chr3	173999064	173999064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccccatccccatccccacCcccattcacattcaacaacc	1	23	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:173999064C>T	uc003fio.1	+	7	2866	c.2443C>T	c.(2443-2445)CCC>TCC	p.P815S	NLGN1_uc003fip.1_Missense_Mutation_p.P815S	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	832	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CCATCCCCACCCCCATTCACA	0.423													T	173999064	C	T	173999064	3	4	27	1	0	0	0	0	1	0	0	0	10461	623	22	4	2461	4	NLGN1	3	173999064	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1391655	173999064	24023366	2083	26034											
NAALADL2	254827	broad.mit.edu	37	chr3	174814900	174814900	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagagcaatcgctgcaacTtttgccacgtcttaaaaata	6	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:174814900T>G	uc003fit.2	+	2	451	c.364T>G	c.(364-366)TTT>GTT	p.F122V	NAALADL2_uc003fiu.1_Missense_Mutation_p.F115V	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	122	Helical; Signal-anchor for type II membrane protein; (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TCGCTGCAACTTTTGCCACGT	0.393													G	174814900	T	G	174814900	3	3	27	1	0	0	0	0	1	0	0	0	10130	1609	56	5	370	5	NAALADL2	3	174814900	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	815836	174814900	23207530	2084	26035											
ZMAT3	64393	broad.mit.edu	37	chr3	178748682	178748682	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tctcacctgcggagggactgGaacaactggagtagctgcag	14	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:178748682G>T	uc003fjg.2	-	3	635	c.376C>A	c.(376-378)CCA>ACA	p.P126T	ZMAT3_uc010hxa.2_Missense_Mutation_p.P126T|ZMAT3_uc003fji.2_Missense_Mutation_p.P126T	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	p53 target zinc finger protein isoform 1	126					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			ovary(2)	2	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			GGAGGGACTGGAACAACTGGA	0.468													T	178748682	G	T	178748682	3	4	27	1	0	0	0	0	1	0	0	0	17690	1174	41	5	509	5	ZMAT3	3	178748682	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3933782	178748682	19273748	2085	26036											
PIK3CA	5290	broad.mit.edu	37	chr3	178917660	178917660	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcttcaccagaattgccaAagcacatatataataaatta	3	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:178917660A>G	uc003fjk.2	+	3	692	c.535A>G	c.(535-537)AAG>GAG	p.K179E		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	179	PI3K-RBD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.K179T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGAATTGCCAAAGCACATATA	0.328		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178917660	A	G	178917660	3	3	27	1	0	0	0	0	1	0	0	0	11913	15	1	3	541	3	PIK3CA	3	178917660	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	168978	178917660	19104770	2086	26037											
PIK3CA	5290	broad.mit.edu	37	chr3	178919243	178919243	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaacaactaaaactctgtgTtttagaatatcagggcaagt	8	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:178919243T>C	uc003fjk.2	+	4	885	c.728T>C	c.(727-729)GTT>GCT	p.V243A		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	243	PI3K-RBD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AAACTCTGTGTTTTAGAATAT	0.343		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			C	178919243	T	C	178919243	3	2	27	1	0	0	0	0	1	0	0	0	11913	1725	60	3	738	3	PIK3CA	3	178919243	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1583	178919243	19103187	2087	26038											
PIK3CA	5290	broad.mit.edu	37	chr3	178921493	178921493	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatggagaaacatctacaaaAtccctttgggttataaatag	7	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:178921493A>G	uc003fjk.2	+	5	1132	c.975A>G	c.(973-975)AAA>AAG	p.K325K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	325					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATCTACAAAATCCCTTTGGG	0.363		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178921493	A	G	178921493	2	3	27	1	0	0	0	0	0	0	0	1	11913	98	4	3		3	PIK3CA	3	178921493	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2250	178921493	19100937	2088	26039											
PIK3CA	5290	broad.mit.edu	37	chr3	178927472	178927472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catttgctctgttaaaggccGaaagggtgctaaagaggtaa	12	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:178927472G>A	uc003fjk.2	+	7	1392	c.1235G>A	c.(1234-1236)CGA>CAA	p.R412Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	412	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GTTAAAGGCCGAAAGGGTGCT	0.358		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178927472	G	A	178927472	3	1	27	1	0	0	0	0	1	0	0	0	11913	1058	37	1	1257	1	PIK3CA	3	178927472	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5979	178927472	19094958	2089	26040											
PIK3CA	5290	broad.mit.edu	37	chr3	178936097	178936097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctctgaaatcactgagcagGagaaagattttctatggagt	10	6	3	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:178936097G>A	uc003fjk.2	+	10	1796	c.1639G>A	c.(1639-1641)GAG>AAG	p.E547K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	547	PI3K helical.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E547K(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CACTGAGCAGGAGAAAGATTT	0.363		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936097	G	A	178936097	3	1	27	1	0	0	0	0	1	0	0	0	11913	1175	41	4	1673	4	PIK3CA	3	178936097	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	8625	178936097	19086333	2090	26041											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952085	A	G	178952085	3	3	27	1	0	0	0	0	1	0	0	0	11913	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	15988	178952085	19070345	2091	26042											
ZNF639	51193	broad.mit.edu	37	chr3	179046097	179046097	+	Frame_Shift_Del	DEL	A	A	-													aagatatgaatgagtatcctAaaaaaagaaaaaggaagact							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:179046096_179046096TA>T	uc003fjr.1	+	3	460	c.15_15TA>T	c.(13-15)cctfs	p.P5fs	ZNF639_uc003fjq.1_Frame_Shift_Del_p.P5fs	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	Homo sapiens zinc finger protein 639 (ZNF639), mRNA.	5					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ATGAGTATCCTAAAAAAAGAA	0.269													-	179046097	A	-	179046097	7	5	27	1	0	1	0	1	0	0	0	0	18053	363	13	0	18	0	ZNF639	3	179046097	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	94012	179046097	18976333	2092	26043											
ZNF639	51193	broad.mit.edu	37	chr3	179052007	179052007	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcaagtatgctagaatatTgcaagcatttaaattcacat	5	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:179052007T>C	uc003fjq.1	+	6	1598	c.1255T>C	c.(1255-1257)TGC>CGC	p.C419R	ZNF639_uc003fjr.1_Missense_Mutation_p.C419R	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	zinc finger protein 639	419	Interaction with CTNNA2.|C2H2-type 6.				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GCTAGAATATTGCAAGCATTT	0.299													C	179052007	T	C	179052007	3	2	27	1	0	0	0	0	1	0	0	0	18053	1812	63	3	1269	3	ZNF639	3	179052007	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	5910	179052007	18970423	2093	26044											
MFN1	55669	broad.mit.edu	37	chr3	179093044	179093044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcagtgaaaacaaagttcGaacagcacactatcagagct	8	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:179093044G>A	uc003fjs.2	+	10	1138	c.1012G>A	c.(1012-1014)GAA>AAA	p.E338K	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.E366K|MFN1_uc010hxc.2_Missense_Mutation_p.E191K	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	338	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AACAAAGTTCGAACAGCACAC	0.403													A	179093044	G	A	179093044	3	1	27	1	0	0	0	0	1	0	0	0	9523	1059	37	1	1046	1	MFN1	3	179093044	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	41037	179093044	18929386	2094	26045											
MFN1	55669	broad.mit.edu	37	chr3	179095217	179095217	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttcatcctaatccagatgTattaaaaatatataaaagtg	5	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:179095217T>C	uc003fjs.2	+	12	1436	c.1310T>C	c.(1309-1311)GTA>GCA	p.V437A	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.V465A|MFN1_uc010hxc.2_Missense_Mutation_p.V290A	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	437	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AATCCAGATGTATTAAAAATA	0.279													C	179095217	T	C	179095217	3	2	27	1	0	0	0	0	1	0	0	0	9523	1638	57	3	1352	3	MFN1	3	179095217	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2173	179095217	18927213	2095	26046											
MFN1	55669	broad.mit.edu	37	chr3	179104341	179104341	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgagcctttaaacagcagTttgtaaactatgcaactgaa	8	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:179104341T>C	uc003fjs.2	+	16	2062	c.1936T>C	c.(1936-1938)TTT>CTT	p.F646L	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.F674L|MFN1_uc010hxc.2_Missense_Mutation_p.F388L	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	646	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TAAACAGCAGTTTGTAAACTA	0.418													C	179104341	T	C	179104341	3	2	27	1	0	0	0	0	1	0	0	0	9523	1725	60	3	1994	3	MFN1	3	179104341	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9124	179104341	18918089	2096	26047											
ACTL6A	86	broad.mit.edu	37	chr3	179292257	179292257	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactgcagttttgacagcgTatccttgaaagagtaatacc	8	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:179292257T>C	uc003fjw.2	+	5	649	c.476_splice	c.e5+2	p.A159_splice	ACTL6A_uc003fjx.2_Splice_Site_p.A117_splice|ACTL6A_uc003fjy.2_Splice_Site_p.A117_splice	NM_004301	NP_004292	O96019	ACL6A_HUMAN	actin-like 6A isoform 1						chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			ovary(1)	1	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TTTGACAGCGTATCCTTGAAA	0.388													C	179292257	T	C	179292257	5	2	27	1	0	0	0	0	0	0	1	0	198	1652	57	3	496	3	ACTL6A	3	179292257	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	187916	179292257	18730173	2097	26048											
ACTL6A	86	broad.mit.edu	37	chr3	179294685	179294685	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggttacgaggtcttggcAcaattatatgtgtaatgtaa	10	5	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:179294685A>G	uc003fjw.2	+	8	925	c.752A>G	c.(751-753)CAC>CGC	p.H251R	ACTL6A_uc003fjx.2_Missense_Mutation_p.H209R|ACTL6A_uc003fjy.2_Missense_Mutation_p.H209R	NM_004301	NP_004292	O96019	ACL6A_HUMAN	actin-like 6A isoform 1	251					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			ovary(1)	1	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			AGGTCTTGGCACAATTATATG	0.373													G	179294685	A	G	179294685	3	3	27	1	0	0	0	0	1	0	0	0	198	159	6	3	782	3	ACTL6A	3	179294685	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2428	179294685	18727745	2098	26049											
MRPL47	57129	broad.mit.edu	37	chr3	179310501	179310501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttttatttaggtgccaaGgtataacccactgcttgaac	7	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:179310501G>A	uc003fjz.2	-	6	582	c.560C>T	c.(559-561)CCT>CTT	p.P187L	MRPL47_uc003fka.2_Missense_Mutation_p.P77L|MRPL47_uc003fkb.2_Missense_Mutation_p.P167L	NM_020409	NP_065142	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47 isoform a	187					translation	mitochondrial ribosome	structural constituent of ribosome				0	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TAGGTGCCAAGGTATAACCCA	0.343													A	179310501	G	A	179310501	3	1	27	1	0	0	0	0	1	0	0	0	9811	1000	35	4	200	4	MRPL47	3	179310501	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	15816	179310501	18711929	2099	26050											
TTC14	151613	broad.mit.edu	37	chr3	180322027	180322027	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacaggctctttgtcccttAagagatgtgccttctcacag	8	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:180322027A>C	uc003fkk.2	+	4	633	c.501A>C	c.(499-501)TTA>TTC	p.L167F	TTC14_uc003fkl.2_Missense_Mutation_p.L167F|TTC14_uc003fkm.2_Missense_Mutation_p.L167F	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	167	S1 motif.						RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTGTCCCTTAAGAGATGTGC	0.348													C	180322027	A	C	180322027	3	2	27	1	0	0	0	0	1	0	0	0	16678	359	13	5	515	5	TTC14	3	180322027	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1011526	180322027	17700403	2100	26051											
TTC14	151613	broad.mit.edu	37	chr3	180327713	180327713	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcaggataggttacagTatgaaaagacacagataaaa	11	4	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:180327713T>C	uc003fkk.2	+	12	1828	c.1696T>C	c.(1696-1698)TAT>CAT	p.Y566H	TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Missense_Mutation_p.Y566H	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	566							RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TAGGTTACAGTATGAAAAGAC	0.403													C	180327713	T	C	180327713	3	2	27	1	0	0	0	0	1	0	0	0	16678	1638	57	3	1772	3	TTC14	3	180327713	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	5686	180327713	17694717	2101	26052											
CCDC39	339829	broad.mit.edu	37	chr3	180364906	180364906	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttccaaaaggccacatgtAgattttttctcttccaaaga	6	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:180364906A>G	uc010hxe.2	-	11	1603	c.1488T>C	c.(1486-1488)TCT>TCC	p.S496S	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	496	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GGCCACATGTAGATTTTTTCT	0.338													G	180364906	A	G	180364906	2	3	27	1	0	0	0	0	0	0	0	1	2811	407	15	3		3	CCDC39	3	180364906	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	37193	180364906	17657524	2102	26053											
FXR1	8087	broad.mit.edu	37	chr3	180686004	180686004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttcagggggtcgaggtcGtggtggaccacgtggtggca	19	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:180686004G>A	uc003fkq.2	+	14	1386	c.1364G>A	c.(1363-1365)CGT>CAT	p.R455H	FXR1_uc003fkp.2_Missense_Mutation_p.R370H|FXR1_uc003fkr.2_Missense_Mutation_p.R455H|FXR1_uc011bqj.1_Missense_Mutation_p.R369H|FXR1_uc003fks.2_Missense_Mutation_p.R398H|FXR1_uc011bqk.1_Missense_Mutation_p.R406H|FXR1_uc011bql.1_Missense_Mutation_p.R442H	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	455	RNA-binding RGG-box.				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GGTCGAGGTCGTGGTGGACCA	0.483													A	180686004	G	A	180686004	3	1	27	1	0	0	0	0	1	0	0	0	6115	1145	40	1	1418	1	FXR1	3	180686004	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	321098	180686004	17336426	2103	26054											
SOX2	6657	broad.mit.edu	37	chr3	181430901	181430901	+	Frame_Shift_Del	DEL	C	C	-													aagtccgaggccagctccagCccccctgtggttacctcttc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:181430900_181430900GC>G	uc003fkx.3	+	0	1189	c.752_752GC>G	c.(751-753)agcfs	p.S251fs	SOX2-OT_uc003fkv.3_Intron|SOX2-OT_uc003fkw.4_Intron	NM_003106	NP_003097	P48431	SOX2_HUMAN	Homo sapiens SRY (sex determining region Y)-box 2 (SOX2), mRNA.	251					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			GCCAGCTCCAGCCCCCCTGTG	0.672			A		"NSCLC, oesophageal squamous carcinoma"		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						-	181430901	C	-	181430901	7	5	27	1	0	1	0	1	0	0	0	0	14949	738	26	0	755	0	SOX2	3	181430901	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	744897	181430901	16591529	2104	26055											
ATP11B	23200	broad.mit.edu	37	chr3	182598714	182598714	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagaaacctataacattggcTgttggtgatggtgctaatga	12	5	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:182598714T>A	uc003flb.2	+	21	2711	c.2454T>A	c.(2452-2454)GCT>GCA	p.A818A	ATP11B_uc003flc.2_Silent_p.A402A|ATP11B_uc011bqm.1_Silent_p.A122A|ATP11B_uc010hxf.1_5'UTR	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	818	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TAACATTGGCTGTTGGTGATG	0.343													A	182598714	T	A	182598714	2	1	27	1	0	0	0	0	0	0	0	1	1120	1567	55	5		5	ATP11B	3	182598714	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1167813	182598714	15423716	2105	26056											
ATP11B	23200	broad.mit.edu	37	chr3	182605474	182605474	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcatgtagaccctcatgTgttacaaaataagcccaccc	6	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:182605474T>C	uc003flb.2	+	24	3073	c.2816T>C	c.(2815-2817)GTG>GCG	p.V939A	ATP11B_uc003flc.2_Missense_Mutation_p.V523A|ATP11B_uc011bqm.1_Silent_p.C219C|ATP11B_uc010hxf.1_Missense_Mutation_p.V101A	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	939	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			GACCCTCATGTGTTACAAAAT	0.318													C	182605474	T	C	182605474	3	2	27	1	0	0	0	0	1	0	0	0	1120	1696	59	3	2910	3	ATP11B	3	182605474	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	6760	182605474	15416956	2106	26057											
LAMP3	27074	broad.mit.edu	37	chr3	182871831	182871831	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggtgatggtgggtggcagtGaataaggggctaagctaggg	21	3	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:182871831G>A	uc003flh.3	-	2	622	c.398C>T	c.(397-399)TCA>TTA	p.S133L		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	133	Lumenal (Potential).|Thr-rich.				cell proliferation	integral to membrane|lysosomal membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GGGTGGCAGTGAATAAGGGGC	0.537													A	182871831	G	A	182871831	3	1	27	1	0	0	0	0	1	0	0	0	8619	1294	45	4	872	4	LAMP3	3	182871831	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	266357	182871831	15150599	2107	26058											
MCF2L2	23101	broad.mit.edu	37	chr3	183013131	183013131	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgatgacacccattttggTgaagactcaggatgtggggc	13	7	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:183013131T>C	uc003fli.1	-	13	1722	c.1632A>G	c.(1630-1632)TCA>TCG	p.S544S	MCF2L2_uc003flj.1_Silent_p.S544S|MCF2L2_uc011bqr.1_RNA|uc003fln.1_Intron|uc003flo.2_5'Flank	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	544					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CCCATTTTGGTGAAGACTCAG	0.483													C	183013131	T	C	183013131	2	2	27	1	0	0	0	0	0	0	0	1	9380	1683	59	3		3	MCF2L2	3	183013131	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	141300	183013131	15009299	2108	26059											
KLHL6	89857	broad.mit.edu	37	chr3	183209848	183209848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgggcctcggggtcccagCacagcaccgtggcgataacc	13	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:183209848C>T	uc003flr.2	-	7	1791	c.1733G>A	c.(1732-1734)TGC>TAC	p.C578Y	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_RNA	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	578	Kelch 6.									haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GGGGTCCCAGCACAGCACCGT	0.662													T	183209848	C	T	183209848	3	4	27	1	0	0	0	0	1	0	0	0	8393	710	25	2	136	2	KLHL6	3	183209848	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	196717	183209848	14812582	2109	26060											
KLHL24	54800	broad.mit.edu	37	chr3	183368392	183368392	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttccttgccatagagctgTgctctcagcctgtagcagct	9	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:183368392T>C	uc003flv.2	+	3	543	c.248T>C	c.(247-249)GTG>GCG	p.V83A	KLHL24_uc003flw.2_Missense_Mutation_p.V83A|KLHL24_uc003flx.2_Missense_Mutation_p.V83A	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	83	BTB.					axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CATAGAGCTGTGCTCTCAGCC	0.398													C	183368392	T	C	183368392	3	2	27	1	0	0	0	0	1	0	0	0	8379	1696	59	3	250	3	KLHL24	3	183368392	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	158544	183368392	14654038	2110	26061											
KLHL24	54800	broad.mit.edu	37	chr3	183390214	183390214	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggactgaccaaggcaatatActgttacgatccagttgaag	10	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:183390214A>G	uc003flv.2	+	7	1839	c.1544A>G	c.(1543-1545)TAC>TGC	p.Y515C	KLHL24_uc003flw.2_Missense_Mutation_p.Y515C|KLHL24_uc003flx.2_Missense_Mutation_p.Y515C	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	515	Kelch 5.			Y -> C (in Ref. 3; BAB15447).		axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AAGGCAATATACTGTTACGAT	0.408													G	183390214	A	G	183390214	3	3	27	1	0	0	0	0	1	0	0	0	8379	391	14	3	1562	3	KLHL24	3	183390214	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	21822	183390214	14632216	2111	26062											
YEATS2	55689	broad.mit.edu	37	chr3	183435470	183435470	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcagaagattgagacTattatcaaagaacagtttgc	10	6	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:183435470T>C	uc003fly.2	+	3	327	c.132T>C	c.(130-132)ACT>ACC	p.T44T		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	44					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGATTGAGACTATTATCAAAG	0.338													C	183435470	T	C	183435470	2	2	27	1	0	0	0	0	0	0	0	1	17469	1509	53	3		3	YEATS2	3	183435470	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	45256	183435470	14586960	2112	26063											
YEATS2	55689	broad.mit.edu	37	chr3	183479352	183479352	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccaattgggagtcaccctAaggttcaaagccccaaacct	8	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:183479352A>G	uc003fly.2	+	14	1909	c.1714A>G	c.(1714-1716)AAG>GAG	p.K572E		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	572					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAGTCACCCTAAGGTTCAAAG	0.418													G	183479352	A	G	183479352	3	3	27	1	0	0	0	0	1	0	0	0	17469	363	13	3	1764	3	YEATS2	3	183479352	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	43882	183479352	14543078	2113	26064											
ABCC5	10057	broad.mit.edu	37	chr3	183660562	183660562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctctttaggtttgatcGtgaaggatactttctttagg	9	6	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:183660562G>A	uc003fmg.2	-	25	3812	c.3647C>T	c.(3646-3648)ACG>ATG	p.T1216M	ABCC5_uc011bqt.1_Missense_Mutation_p.T744M|ABCC5_uc010hxl.2_Missense_Mutation_p.T1173M	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1216	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGGTTTGATCGTGAAGGATAC	0.498													A	183660562	G	A	183660562	3	1	27	1	0	0	0	0	1	0	0	0	56	1145	40	1	690	1	ABCC5	3	183660562	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	181210	183660562	14361868	2114	26065											
ABCC5	10057	broad.mit.edu	37	chr3	183700588	183700588	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagggatttctctttaatgtTctttaacttaaggatcttct	6	7	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:183700588T>A	uc003fmg.2	-	6	964	c.799A>T	c.(799-801)AAC>TAC	p.N267Y	ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.N267Y	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	267	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCTTTAATGTTCTTTAACTTA	0.502													A	183700588	T	A	183700588	3	1	27	1	0	0	0	0	1	0	0	0	56	1783	62	5	3614	5	ABCC5	3	183700588	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	40026	183700588	14321842	2115	26066											
EIF2B5	8893	broad.mit.edu	37	chr3	183854437	183854437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgtggcattaattgactAcactctggaattcctgactg	8	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:183854437A>G	uc003fmp.2	+	2	597	c.233A>G	c.(232-234)TAC>TGC	p.Y78C	EIF2B5_uc010hxs.2_Missense_Mutation_p.Y78C|EIF2B5_uc003fmq.2_5'UTR	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B,	78					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			ovary(5)	5	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TTAATTGACTACACTCTGGAA	0.453													G	183854437	A	G	183854437	3	3	27	1	0	0	0	0	1	0	0	0	5004	391	14	3	239	3	EIF2B5	3	183854437	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	153849	183854437	14167993	2116	26067											
ABCF3	55324	broad.mit.edu	37	chr3	183911336	183911336	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctgtctttcagggtggtgtGattctggtgtcccacgatga	13	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:183911336G>A	uc003fmz.2	+	21	2113	c.1980G>A	c.(1978-1980)GTG>GTA	p.V660V	ABCF3_uc003fna.2_Silent_p.V654V|ABCF3_uc003fnb.2_Silent_p.V341V	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20),	660	ABC transporter 2.						ATP binding|ATPase activity			ovary(3)|lung(1)	4	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGGTGGTGTGATTCTGGTGT	0.612													A	183911336	G	A	183911336	2	1	27	1	0	0	0	0	0	0	0	1	67	1277	45	4		4	ABCF3	3	183911336	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	56899	183911336	14111094	2117	26068											
PSMD2	5708	broad.mit.edu	37	chr3	184025236	184025236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgactcaacatcctggataCcctaagcaaattctctcatg	5	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:184025236C>T	uc003fnn.1	+	17	2159	c.2126C>T	c.(2125-2127)ACC>ATC	p.T709I	PSMD2_uc011brj.1_Missense_Mutation_p.T550I|PSMD2_uc011brk.1_Missense_Mutation_p.T579I	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	709	PC 6.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	ATCCTGGATACCCTAAGCAAA	0.493													T	184025236	C	T	184025236	3	4	27	1	0	0	0	0	1	0	0	0	12698	507	18	4	2192	4	PSMD2	3	184025236	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	113900	184025236	13997194	2118	26069											
EIF4G1	1981	broad.mit.edu	37	chr3	184046703	184046703	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttcttgtagggagatTacaaagcctctgagaccgtt	9	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:184046703T>A	uc003fnp.2	+	28	4284	c.4086T>A	c.(4084-4086)ATT>ATA	p.I1362I	EIF4G1_uc003fnt.2_Silent_p.I1073I|EIF4G1_uc003fnq.2_Silent_p.I1275I|EIF4G1_uc003fnr.2_Silent_p.I1198I|EIF4G1_uc010hxx.2_Silent_p.I1369I|EIF4G1_uc003fns.2_Silent_p.I1322I|EIF4G1_uc010hxy.2_Silent_p.I1369I|EIF4G1_uc003fnv.3_Silent_p.I1363I|EIF4G1_uc003fnu.3_Silent_p.I1362I|EIF4G1_uc003fnw.2_Silent_p.I1369I|EIF4G1_uc003fnx.2_Silent_p.I1167I|EIF4G1_uc003fny.3_Silent_p.I1166I|EIF4G1_uc003foa.2_Silent_p.I34I	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1362	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTAGGGAGATTACAAAGCCTC	0.532													A	184046703	T	A	184046703	2	1	27	1	0	0	0	0	0	0	0	1	5036	1742	61	5		5	EIF4G1	3	184046703	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	21467	184046703	13975727	2119	26070											
EIF4G1	1981	broad.mit.edu	37	chr3	184049520	184049520	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtttctcccatacaggccaAcctgagtgagcagcagatag	10	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:184049520A>T	uc003fnp.2	+	31	4598	c.4400A>T	c.(4399-4401)AAC>ATC	p.N1467I	EIF4G1_uc003fnt.2_Missense_Mutation_p.N1178I|EIF4G1_uc003fnq.2_Missense_Mutation_p.N1380I|EIF4G1_uc003fnr.2_Missense_Mutation_p.N1303I|EIF4G1_uc010hxx.2_Missense_Mutation_p.N1474I|EIF4G1_uc003fns.2_Missense_Mutation_p.N1427I|EIF4G1_uc010hxy.2_Missense_Mutation_p.N1474I|EIF4G1_uc003fnv.3_Missense_Mutation_p.N1468I|EIF4G1_uc003fnu.3_Missense_Mutation_p.N1467I|EIF4G1_uc003fnw.2_Missense_Mutation_p.N1474I|EIF4G1_uc003fnx.2_Missense_Mutation_p.N1272I|EIF4G1_uc003fny.3_Missense_Mutation_p.N1271I|EIF4G1_uc003foa.2_Missense_Mutation_p.N139I	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1467	W2.|EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATACAGGCCAACCTGAGTGAG	0.493													T	184049520	A	T	184049520	3	4	27	1	0	0	0	0	1	0	0	0	5036	43	2	5	4514	5	EIF4G1	3	184049520	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2817	184049520	13972910	2120	26071											
CLCN2	1181	broad.mit.edu	37	chr3	184069837	184069837	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctccaccagctggaagggAgcaggatcaattttgcagtc	12	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:184069837A>G	uc003foi.2	-	22	2503	c.2379T>C	c.(2377-2379)GCT>GCC	p.A793A	CLCN2_uc003foh.2_Intron|CLCN2_uc010hya.1_Silent_p.A776A|CLCN2_uc011brl.1_Silent_p.A793A|CLCN2_uc011brm.1_Silent_p.A749A	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	793	CBS 2.|Cytoplasmic (By similarity).					chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GCTGGAAGGGAGCAGGATCAA	0.557													G	184069837	A	G	184069837	2	3	27	1	0	0	0	0	0	0	0	1	3463	291	11	3		3	CLCN2	3	184069837	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	20317	184069837	13952593	2121	26072											
CLCN2	1181	broad.mit.edu	37	chr3	184075458	184075458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccacggcacaggcggcaGccagcatctctgtgttccgg	12	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:184075458G>A	uc003foi.2	-	7	846	c.722C>T	c.(721-723)GCT>GTT	p.A241V	CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Missense_Mutation_p.A241V|CLCN2_uc011brl.1_Missense_Mutation_p.A241V|CLCN2_uc011brm.1_Missense_Mutation_p.A197V|CLCN2_uc011brn.1_Missense_Mutation_p.A241V	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	241						chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	ACAGGCGGCAGCCAGCATCTC	0.652													A	184075458	G	A	184075458	3	1	27	1	0	0	0	0	1	0	0	0	3463	971	34	2	2046	2	CLCN2	3	184075458	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5621	184075458	13946972	2122	26073											
THPO	7066	broad.mit.edu	37	chr3	184090537	184090537	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtgtctgatgttcctgAggaaatgtccggggctccta	13	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:184090537A>G	uc003fol.1	-	6	1041	c.826T>C	c.(826-828)TCA>CCA	p.S276P	THPO_uc003fom.1_Missense_Mutation_p.S272P|THPO_uc003fon.2_Missense_Mutation_p.L237P|THPO_uc011bro.1_Intron|THPO_uc003fop.2_Missense_Mutation_p.L233P|THPO_uc011brp.1_Intron|THPO_uc011brq.1_Missense_Mutation_p.L197P	NM_000460	NP_000451	P40225	TPO_HUMAN	thrombopoietin precursor	276					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			ovary(1)	1	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATGTTCCTGAGGAAATGTCC	0.552													G	184090537	A	G	184090537	3	3	27	1	0	0	0	0	1	0	0	0	15869	304	11	3	239	3	THPO	3	184090537	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	15079	184090537	13931893	2123	26074											
EPHB3	2049	broad.mit.edu	37	chr3	184290963	184290963	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaggagtcccagtgccgCcgtgagtggggactgtcctg	16	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:184290963C>T	uc003foz.2	+	3	1292	c.855C>T	c.(853-855)CGC>CGT	p.R285R		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	285	Cys-rich.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CCCAGTGCCGCCGTGAGTGGG	0.662													T	184290963	C	T	184290963	2	4	27	1	0	0	0	0	0	0	0	1	5176	753	26	2		2	EPHB3	3	184290963	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	200426	184290963	13731467	2124	26075											
EPHB3	2049	broad.mit.edu	37	chr3	184298290	184298290	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgaactatgtgcaccgcgAcctggctgctcgcaacatcc	10	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:184298290A>G	uc003foz.2	+	12	2710	c.2273A>G	c.(2272-2274)GAC>GGC	p.D758G		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	758	Cytoplasmic (Potential).|Protein kinase.	Proton acceptor (By similarity).				integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GTGCACCGCGACCTGGCTGCT	0.582													G	184298290	A	G	184298290	3	3	27	1	0	0	0	0	1	0	0	0	5176	275	10	3	2319	3	EPHB3	3	184298290	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	7327	184298290	13724140	2125	26076											
VPS8	23355	broad.mit.edu	37	chr3	184632771	184632771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcattcttttcttctagctGttgtctagcaggtcgtgcct	8	11	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:184632771G>A	uc003fpb.1	+	26	2357	c.2186G>A	c.(2185-2187)TGT>TAT	p.C729Y	VPS8_uc010hyd.1_Missense_Mutation_p.C639Y|VPS8_uc010hye.1_Missense_Mutation_p.C158Y	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	731							zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TCTTCTAGCTGTTGTCTAGCA	0.403													A	184632771	G	A	184632771	3	1	27	1	0	0	0	0	1	0	0	0	17215	1377	48	4	2290	4	VPS8	3	184632771	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	334481	184632771	13389659	2126	26077											
EHHADH	1962	broad.mit.edu	37	chr3	184910033	184910033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcacaatttactgctagggGagcctgccaagctttgccat	9	11	1	0	rs140662313		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:184910033G>A	uc003fpf.2	-	7	2180	c.2153C>T	c.(2152-2154)TCC>TTC	p.S718F	EHHADH_uc011brs.1_Missense_Mutation_p.S622F	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	718						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	ACTGCTAGGGGAGCCTGCCAA	0.433													A	184910033	G	A	184910033	3	1	27	1	0	0	0	0	1	0	0	0	4982	1174	41	4	22	4	EHHADH	3	184910033	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	277262	184910033	13112397	2127	26078											
EHHADH	1962	broad.mit.edu	37	chr3	184922382	184922382	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgatgcccacttcataGggatactgcacagcagcctg	9	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:184922382G>T	uc003fpf.2	-	6	759	c.732C>A	c.(730-732)CCC>CCA	p.P244P	EHHADH_uc011brs.1_Silent_p.P148P	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	244	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	CCACTTCATAGGGATACTGCA	0.522													T	184922382	G	T	184922382	2	4	27	1	0	0	0	0	0	0	0	1	4982	987	35	5		5	EHHADH	3	184922382	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	12349	184922382	13100048	2128	26079											
ETV5	2119	broad.mit.edu	37	chr3	185782253	185782253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcatgtaggatgactggCagttaggcacttctgaaagg	12	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:185782253C>T	uc003fpz.2	-	9	1170	c.923G>A	c.(922-924)TGC>TAC	p.C308Y	ETV5_uc003fpy.2_Missense_Mutation_p.C350Y	NM_004454	NP_004445	P41161	ETV5_HUMAN	ets variant gene 5 (ets-related molecule)	308					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|skin(2)|breast(1)	5	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GGATGACTGGCAGTTAGGCAC	0.388			T	TMPRSS2|SCL45A3	Prostate 								T	185782253	C	T	185782253	3	4	27	1	0	0	0	0	1	0	0	0	5282	710	25	2	629	2	ETV5	3	185782253	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	859871	185782253	12240177	2129	26080											
ETV5	2119	broad.mit.edu	37	chr3	185797835	185797835	+	Frame_Shift_Del	DEL	G	G	-													attctgatgggtgggtgagaGgggggttgtaggaggggtta							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:185797834_185797834AG>A	uc003fpy.3	-	6	613	c.548_548CT>T	c.(547-549)ctcfs	p.L183fs	ETV5_uc003fpz.3_Frame_Shift_Del_p.L141fs	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	141					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.P182L(1)		breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GGTGGGTGAGAGGGGGGTTGT	0.552			T	"TMPRSS2, SCL45A3"	Prostate								-	185797835	G	-	185797835	7	5	27	1	0	1	0	1	0	0	0	0	5282	1000	35	0	1139	0	ETV5	3	185797835	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	15582	185797835	12224595	2130	26081											
DGKG	1608	broad.mit.edu	37	chr3	186006613	186006613	+	Frame_Shift_Del	DEL	G	G	-													ccgagggacggggggttccaGgggggtcgcagccacttggt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:186006612_186006612AG>A	uc003fqa.3	-	5	968	c.431_431CT>T	c.(430-432)ctgfs	p.L144fs	DGKG_uc003fqb.3_Frame_Shift_Del_p.L144fs|DGKG_uc003fqc.3_Frame_Shift_Del_p.L144fs|DGKG_uc011brx.2_Frame_Shift_Del_p.L144fs	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	144					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			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GGGGGGTTCCAGGGGGGTCGC	0.537													-	186006613	G	-	186006613	7	5	27	1	0	1	0	1	0	0	0	0	4469	991	35	0	2025	0	DGKG	3	186006613	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	208778	186006613	12015817	2131	26082											
CRYGS	1427	broad.mit.edu	37	chr3	186256574	186256574	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcttgtccaggaggtActgcctgccacggtagttgg	12	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:186256574A>G	uc003fqe.2	-	3	500	c.448T>C	c.(448-450)TAC>CAC	p.Y150H	CRYGS_uc003fqf.2_Missense_Mutation_p.Y150H	NM_017541	NP_060011	P22914	CRBS_HUMAN	crystallin, gamma S	150	Beta/gamma crystallin 'Greek key' 4.						structural constituent of eye lens				0	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		TCCAGGAGGTACTGCCTGCCA	0.532													G	186256574	A	G	186256574	3	3	27	1	0	0	0	0	1	0	0	0	3919	391	14	3	92	3	CRYGS	3	186256574	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	249961	186256574	11765856	2132	26083											
TBCCD1	55171	broad.mit.edu	37	chr3	186272759	186272759	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgtgcccccgccagagtgTctgagctcttagccagtgtc	11	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:186272759T>C	uc003fqg.2	-	5	1103	c.974A>G	c.(973-975)GAC>GGC	p.D325G	TBCCD1_uc011bry.1_Missense_Mutation_p.D325G|TBCCD1_uc003fqh.2_Missense_Mutation_p.D229G	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	325	C-CAP/cofactor C-like.				cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			large_intestine(1)|ovary(1)	2	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		CGCCAGAGTGTCTGAGCTCTT	0.458													C	186272759	T	C	186272759	3	2	27	1	0	0	0	0	1	0	0	0	15629	1667	58	3	711	3	TBCCD1	3	186272759	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	16185	186272759	11749671	2133	26084											
FETUB	26998	broad.mit.edu	37	chr3	186364090	186364090	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaattaaagaatcaccatgTactaaatcccaggccagcag	6	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:186364090T>C	uc010hyq.2	+	6	909	c.648T>C	c.(646-648)TGT>TGC	p.C216C	FETUB_uc011brz.1_Silent_p.C68C|FETUB_uc003fqn.2_Silent_p.C216C|FETUB_uc003fqo.2_Silent_p.C111C|FETUB_uc010hyr.2_Silent_p.C179C|FETUB_uc010hys.2_Silent_p.C68C|FETUB_uc003fqp.3_Silent_p.C151C	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	fetuin B precursor	216	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		AATCACCATGTACTAAATCCC	0.408													C	186364090	T	C	186364090	2	2	27	1	0	0	0	0	0	0	0	1	5821	1644	57	3		3	FETUB	3	186364090	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	91331	186364090	11658340	2134	26085											
KNG1	3827	broad.mit.edu	37	chr3	186459531	186459531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggccataaacatgaacGtgaccaagggcatgggcacc	11	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:186459531G>A	uc011bsa.1	+	10	1558	c.1346G>A	c.(1345-1347)CGT>CAT	p.R449H	KNG1_uc003fqr.2_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	kininogen 1 isoform 1	449	|His-rich.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			skin(1)	1	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	AAACATGAACGTGACCAAGGG	0.468													A	186459531	G	A	186459531	3	1	27	1	0	0	0	0	1	0	0	0	8427	1145	40	1	1384	1	KNG1	3	186459531	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	95441	186459531	11562899	2135	26086											
EIF4A2	1974	broad.mit.edu	37	chr3	186505288	186505288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttattaatttgcagcatgGtgacatggaccagaaggaga	12	5	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:186505288G>A	uc003fqs.2	+	9	953	c.914G>A	c.(913-915)GGT>GAT	p.G305D	EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.G306D|EIF4A2_uc003fqv.2_Missense_Mutation_p.G210D|EIF4A2_uc003fqw.2_Missense_Mutation_p.G210D|EIF4A2_uc011bsb.1_Missense_Mutation_p.G178D|SNORA4_uc010hyx.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	305	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			ovary(2)|breast(2)	4	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TTGCAGCATGGTGACATGGAC	0.423			T	BCL6	NHL								A	186505288	G	A	186505288	3	1	27	1	0	0	0	0	1	0	0	0	5025	1261	44	4	948	4	EIF4A2	3	186505288	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	45757	186505288	11517142	2136	26087											
LEPREL1	55214	broad.mit.edu	37	chr3	189690672	189690672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaatctcaccagacagggCtgttcggcagaccatgtgtg	12	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:189690672C>T	uc011bsk.1	-	11	2078	c.1690G>A	c.(1690-1692)GCC>ACC	p.A564T	LEPREL1_uc003fsg.2_Missense_Mutation_p.A383T	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	564	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCAGACAGGGCTGTTCGGCAG	0.403													T	189690672	C	T	189690672	3	4	27	1	0	0	0	0	1	0	0	0	8730	797	28	2	456	2	LEPREL1	3	189690672	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3185384	189690672	8331758	2137	26088											
LEPREL1	55214	broad.mit.edu	37	chr3	189690757	189690757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatccttcgagccttttcGctgatgtcataaaacagacg	7	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:189690757G>A	uc011bsk.1	-	11	1993	c.1605C>T	c.(1603-1605)AGC>AGT	p.S535S	LEPREL1_uc003fsg.2_Silent_p.S354S	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	535					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GAGCCTTTTCGCTGATGTCAT	0.413													A	189690757	G	A	189690757	2	1	27	1	0	0	0	0	0	0	0	1	8730	1078	38	1		1	LEPREL1	3	189690757	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	85	189690757	8331673	2138	26089											
LEPREL1	55214	broad.mit.edu	37	chr3	189706761	189706761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattctcgatgggagagaggCggccagggcgggtggcaagt	19	7	1	1	rs143105580		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:189706761C>T	uc011bsk.1	-	4	1278	c.890G>A	c.(889-891)CGC>CAC	p.R297H	LEPREL1_uc003fsg.2_Missense_Mutation_p.R116H	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	297					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGGAGAGAGGCGGCCAGGGCG	0.502													T	189706761	C	T	189706761	3	4	27	1	0	0	0	0	1	0	0	0	8730	768	27	1	1284	1	LEPREL1	3	189706761	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	16004	189706761	8315669	2139	26090											
TMEM207	131920	broad.mit.edu	37	chr3	190158100	190158100	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgagaatcaattcggggTctcctcagccagcactggag	12	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:190158100T>A	uc003fsj.2	-	4	304	c.237A>T	c.(235-237)AGA>AGT	p.R79S		NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	transmembrane protein 207 precursor	79						integral to membrane					0	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		CAATTCGGGGTCTCCTCAGCC	0.517													A	190158100	T	A	190158100	3	1	27	1	0	0	0	0	1	0	0	0	16129	1664	58	5	211	5	TMEM207	3	190158100	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	451339	190158100	7864330	2140	26091											
IL1RAP	3556	broad.mit.edu	37	chr3	190341190	190341190	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acctaatgatcatgtggtctAtgagaaagaaccaggtaatt	9	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:190341190A>T	uc003fsm.1	+	7	967	c.761A>T	c.(760-762)TAT>TTT	p.Y254F	IL1RAP_uc003fsk.2_Missense_Mutation_p.Y254F|IL1RAP_uc003fsl.2_Missense_Mutation_p.Y254F|IL1RAP_uc010hzf.2_Missense_Mutation_p.Y113F|IL1RAP_uc010hzg.1_Missense_Mutation_p.Y254F|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.Y254F|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Missense_Mutation_p.Y254F	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	254	Extracellular (Potential).|Ig-like C2-type 3.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		CATGTGGTCTATGAGAAAGAA	0.353													T	190341190	A	T	190341190	3	4	27	1	0	0	0	0	1	0	0	0	7660	449	16	5	779	5	IL1RAP	3	190341190	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	183090	190341190	7681240	2141	26092											
IL1RAP	3556	broad.mit.edu	37	chr3	190345194	190345194	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttggtggaccattgatggAaaaaaacctgatgacatcac	10	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:190345194A>G	uc003fsm.1	+	8	1064	c.858A>G	c.(856-858)GGA>GGG	p.G286G	IL1RAP_uc003fsk.2_Silent_p.G286G|IL1RAP_uc003fsl.2_Silent_p.G286G|IL1RAP_uc010hzf.2_Silent_p.G145G|IL1RAP_uc010hzg.1_Silent_p.G286G|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Silent_p.G286G|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Silent_p.G286G	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	286	Extracellular (Potential).|Ig-like C2-type 3.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		CCATTGATGGAAAAAAACCTG	0.388													G	190345194	A	G	190345194	2	3	27	1	0	0	0	0	0	0	0	1	7660	233	9	3		3	IL1RAP	3	190345194	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4004	190345194	7677236	2142	26093											
IL1RAP	3556	broad.mit.edu	37	chr3	190366254	190366254	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctggcctagaaaatatggcCtctcggggcaacatcaacgt	11	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:190366254C>A	uc003fsm.1	+	12	1679	c.1473C>A	c.(1471-1473)GCC>GCA	p.A491A	IL1RAP_uc010hzg.1_Silent_p.A491A|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Silent_p.A491A|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	491	Cytoplasmic (Potential).|TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		AAAATATGGCCTCTCGGGGCA	0.512													A	190366254	C	A	190366254	2	1	27	1	0	0	0	0	0	0	0	1	7660	668	24	5		5	IL1RAP	3	190366254	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	21060	190366254	7656176	2143	26094											
OSTN	344901	broad.mit.edu	37	chr3	190930420	190930420	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtagatgtaacaacaacAgaggtaatggaaactagctt	9	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:190930420A>G	uc011bsn.1	+	1	99	c.99A>G	c.(97-99)ACA>ACG	p.T33T		NM_198184	NP_937827	P61366	OSTN_HUMAN	osteocrin precursor	33					cell differentiation|multicellular organismal development|ossification		hormone activity			pancreas(1)|skin(1)	2	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		TAACAACAACAGAGGTAATGG	0.343													G	190930420	A	G	190930420	2	3	27	1	0	0	0	0	0	0	0	1	11299	175	7	3		3	OSTN	3	190930420	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	564166	190930420	7092010	2144	26095											
FGF12	2257	broad.mit.edu	37	chr3	192125880	192125880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgctgaacaccccgaggaCgtgcctctcgcacagggagc	12	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:192125880C>T	uc003fsx.2	-	1	959	c.133G>A	c.(133-135)GTC>ATC	p.V45I	FGF12_uc003fsy.2_Intron	NM_021032	NP_066360	P61328	FGF12_HUMAN	fibroblast growth factor 12 isoform 1	45					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			ovary(1)|skin(1)|lung(1)|pancreas(1)	4	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		ACCCCGAGGACGTGCCTCTCG	0.682													T	192125880	C	T	192125880	3	4	27	1	0	0	0	0	1	0	0	0	5841	536	19	1	618	1	FGF12	3	192125880	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1195460	192125880	5896550	2145	26096											
C3orf59	151963	broad.mit.edu	37	chr3	192516331	192516331	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggtcccctccgtcagactgTggagaggggatgctggtggt	18	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:192516331T>A	uc011bsp.1	-	2	1641	c.1320A>T	c.(1318-1320)CCA>CCT	p.P440P		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	hypothetical protein LOC151963	440											0	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)		CGTCAGACTGTGGAGAGGGGA	0.577													A	192516331	T	A	192516331	2	1	27	1	0	0	0	0	0	0	0	1	2237	1683	59	5		5	C3orf59	3	192516331	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	390451	192516331	5506099	2146	26097											
ATP13A5	344905	broad.mit.edu	37	chr3	192993034	192993034	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctatattgacttttagagtAgaatccaaattctcttttga	5	7	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:192993034A>G	uc011bsq.1	-	30	3454	c.3454T>C	c.(3454-3456)TAC>CAC	p.Y1152H		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1152					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CTTTTAGAGTAGAATCCAAAT	0.393													G	192993034	A	G	192993034	3	3	27	1	0	0	0	0	1	0	0	0	1127	420	15	3	204	3	ATP13A5	3	192993034	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	476703	192993034	5029396	2147	26098											
ATP13A5	344905	broad.mit.edu	37	chr3	193039614	193039614	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggcacaaggtgatgatggCttccactggactctgcaagc	12	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:193039614C>A	uc011bsq.1	-	16	1771	c.1771G>T	c.(1771-1773)GCC>TCC	p.A591S		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	591					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTGATGATGGCTTCCACTGGA	0.473													A	193039614	C	A	193039614	3	1	27	1	0	0	0	0	1	0	0	0	1127	797	28	5	1943	5	ATP13A5	3	193039614	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	46580	193039614	4982816	2148	26099											
ATP13A5	344905	broad.mit.edu	37	chr3	193071938	193071938	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttaacaagcagcttccatAtgggttggatttcaacctca	8	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:193071938A>G	uc011bsq.1	-	6	584	c.584T>C	c.(583-585)ATA>ACA	p.I195T		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	195					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAGCTTCCATATGGGTTGGAT	0.383													G	193071938	A	G	193071938	3	3	27	1	0	0	0	0	1	0	0	0	1127	449	16	3	3170	3	ATP13A5	3	193071938	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	32324	193071938	4950492	2149	26100											
ATP13A4	84239	broad.mit.edu	37	chr3	193210730	193210730	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgttcttctcttgtcAagcctgatccaaatttttga	5	11	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:193210730A>G	uc003ftd.2	-	5	617	c.509T>C	c.(508-510)TTG>TCG	p.L170S	ATP13A4_uc003fte.1_Missense_Mutation_p.L170S|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	170	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTCTCTTGTCAAGCCTGATCC	0.313													G	193210730	A	G	193210730	3	3	27	1	0	0	0	0	1	0	0	0	1126	131	5	3	3185	3	ATP13A4	3	193210730	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	138792	193210730	4811700	2150	26101											
OPA1	4976	broad.mit.edu	37	chr3	193353272	193353272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattgagaaaattagtattGcagaaagatgacaaaggcat	10	3	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:193353272G>A	uc003ftm.2	+	7	978	c.744G>A	c.(742-744)TTG>TTA	p.L248L	OPA1_uc003ftg.2_Silent_p.L303L|OPA1_uc003fth.2_Silent_p.L267L|OPA1_uc003fti.2_Silent_p.L285L|OPA1_uc003ftj.2_Silent_p.L266L|OPA1_uc003ftk.2_Silent_p.L249L|OPA1_uc003ftl.2_Silent_p.L230L|OPA1_uc003ftn.2_Silent_p.L212L	NM_015560	NP_056375	O60313	OPA1_HUMAN	optic atrophy 1 isoform 1	248	Mitochondrial intermembrane (By similarity).|Potential.				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding				0	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AATTAGTATTGCAGAAAGATG	0.303													A	193353272	G	A	193353272	2	1	27	1	0	0	0	0	0	0	0	1	10871	1310	46	2		2	OPA1	3	193353272	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	142542	193353272	4669158	2151	26102											
LRRC15	131578	broad.mit.edu	37	chr3	194080147	194080147	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatgccaattacaatggcGgcaatggccagcccgctctg	10	13	1	0	rs113394891	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:194080147G>A	uc003ftu.2	-	2	1712	c.1626C>T	c.(1624-1626)GCC>GCT	p.A542A	LRRC15_uc003ftt.2_Silent_p.A548A	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15 isoform b	542	Helical; (Potential).					integral to membrane				ovary(3)	3	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TTACAATGGCGGCAATGGCCA	0.597													A	194080147	G	A	194080147	2	1	27	1	0	0	0	0	0	0	0	1	8970	1103	39	1		1	LRRC15	3	194080147	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	726875	194080147	3942283	2152	26103											
GP5	2814	broad.mit.edu	37	chr3	194118737	194118737	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttatcaggtcactgaaggtgCcgggggcaacggcggaaatg	16	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:194118737C>A	uc003ftv.1	-	2	306	c.275G>T	c.(274-276)GGC>GTC	p.G92V		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	92	LRR 1.|Extracellular (Potential).				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				skin(2)|breast(1)	3	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		ACTGAAGGTGCCGGGGGCAAC	0.597													A	194118737	C	A	194118737	3	1	27	1	0	0	0	0	1	0	0	0	6583	739	26	5	1411	5	GP5	3	194118737	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	38590	194118737	3903693	2153	26104											
ATP13A3	79572	broad.mit.edu	37	chr3	194158135	194158135	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaccctggcaaccacactcAtacgttgcaaagcagaagaa	8	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:194158135A>G	uc003fty.3	-	18	2306	c.1904T>C	c.(1903-1905)ATG>ACG	p.M635T	ATP13A3_uc003ftz.1_Missense_Mutation_p.M341T	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	635					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AACCACACTCATACGTTGCAA	0.458													G	194158135	A	G	194158135	3	3	27	1	0	0	0	0	1	0	0	0	1125	217	8	3	1836	3	ATP13A3	3	194158135	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	39398	194158135	3864295	2154	26105											
MUC20	200958	broad.mit.edu	37	chr3	195453411	195453411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagccacgcccacgactgCccggacgaggccgaccacag	11	18	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:195453411C>T	uc010hzo.2	+	3	1550	c.1424C>T	c.(1423-1425)GCC>GTC	p.A475V	MUC20_uc010hzp.2_Missense_Mutation_p.A440V|MUC20_uc011bte.1_RNA	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	mucin 20 isoform L	646	Involved in oligomerization.|Thr-rich.				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane					0	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CCCACGACTGCCCGGACGAGG	0.597													T	195453411	C	T	195453411	3	4	27	1	0	0	0	0	1	0	0	0	9976	739	26	2	1434	2	MUC20	3	195453411	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1295276	195453411	2569019	2155	26106											
MUC4	4585	broad.mit.edu	37	chr3	195485993	195485993	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagccagccaaatagtcctAccaaagagctccaagtcggt	8	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:195485993A>G	uc011bto.1	-	18	15062	c.14602_splice	c.e18+1	p.E4868_splice	MUC4_uc003fuz.2_Splice_Site_p.E594_splice|MUC4_uc003fva.2_Splice_Site_p.E476_splice|MUC4_uc003fvb.2_Splice_Site_p.E512_splice|MUC4_uc003fvc.2_Splice_Site|MUC4_uc003fvd.2_Splice_Site|MUC4_uc003fve.2_Splice_Site_p.E512_splice|MUC4_uc010hzr.2_Splice_Site|MUC4_uc011btf.1_Splice_Site_p.E476_splice|MUC4_uc011btg.1_Splice_Site|MUC4_uc011bth.1_Splice_Site_p.E560_splice|MUC4_uc011bti.1_Splice_Site_p.E560_splice|MUC4_uc011btj.1_Splice_Site_p.E737_splice|MUC4_uc011btk.1_Splice_Site_p.E476_splice|MUC4_uc011btl.1_Splice_Site_p.E505_splice|MUC4_uc011btm.1_Splice_Site_p.E685_splice|MUC4_uc011btn.1_Splice_Site_p.E476_splice|MUC4_uc003fvo.2_Splice_Site_p.E760_splice|MUC4_uc003fvp.2_Splice_Site_p.E709_splice	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a						cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AAATAGTCCTACCAAAGAGCT	0.537													G	195485993	A	G	195485993	5	3	27	1	0	0	0	0	0	0	1	0	9978	405	14	3	1286	3	MUC4	3	195485993	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	32582	195485993	2536437	2156	26107											
MUC4	4585	broad.mit.edu	37	chr3	195498640	195498640	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgggttggggtaggagaaAatctggtagtctgactctgg	17	4	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:195498640A>G	uc011bto.1	-	6	13201	c.12741T>C	c.(12739-12741)ATT>ATC	p.I4247I	MUC4_uc003fuz.2_Missense_Mutation_p.F55S|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_5'UTR|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Silent_p.I116I|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Silent_p.I116I|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Silent_p.I139I|MUC4_uc003fvp.2_Silent_p.I88I|MUC4_uc010hzu.1_Silent_p.I987I	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1132					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGTAGGAGAAAATCTGGTAGT	0.572													G	195498640	A	G	195498640	2	3	27	1	0	0	0	0	0	0	0	1	9978	10	1	3		3	MUC4	3	195498640	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	12647	195498640	2523790	2157	26108											
TCTEX1D2	255758	broad.mit.edu	37	chr3	196022943	196022943	+	Splice_Site	DEL	A	A	-													aaacagcgagaagccatgctAaaaaatccaagaatgaagaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:196022942_196022942TA>T	uc003fwi.3	-	4	460	c.318_splice	c.e4-1	p.F106_splice		NM_152773	NP_689986	Q8WW35	TC1D2_HUMAN	Homo sapiens Tctex1 domain containing 2 (TCTEX1D2), mRNA.	106							protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GAAGCCATGCTAAAAAATCCA	0.368													-	196022943	A	-	196022943	8	5	27	1	0	1	0	1	0	0	1	0	15717	377	13	0		0	TCTEX1D2	3	196022943	Splice_Site	DEL	A	TCGA-BR-6452-01A-12D-1800-08	524303	196022943	1999487	2158	26109											
TM4SF19	116211	broad.mit.edu	37	chr3	196050829	196050829	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagctgcagagggctccagGcagacggagttccagagcga	15	11	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:196050829G>A	uc003fwl.1	-	5	614	c.489C>T	c.(487-489)TGC>TGT	p.C163C	TM4SF19_uc003fwj.2_RNA|uc003fwk.1_Missense_Mutation_p.A32T|TM4SF19_uc010iad.1_Missense_Mutation_p.A162V|TM4SF19_uc011btv.1_Silent_p.C137C	NM_138461	NP_612470	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	163	Extracellular (Potential).					integral to membrane					0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		AGGGCTCCAGGCAGACGGAGT	0.532													A	196050829	G	A	196050829	2	1	27	1	0	0	0	0	0	0	0	1	15965	1195	42	2		2	TM4SF19	3	196050829	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	27886	196050829	1971601	2159	26110											
RNF168	165918	broad.mit.edu	37	chr3	196214296	196214296	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgcttagctttcttgccaGttcctcatcacttttcagtt	5	11	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:196214296G>T	uc003fwq.2	-	3	1070	c.532C>A	c.(532-534)CTG>ATG	p.L178M	RNF168_uc010iah.2_Missense_Mutation_p.L11M	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	ring finger protein 168	178	MIU motif 1.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TTTCTTGCCAGTTCCTCATCA	0.458													T	196214296	G	T	196214296	3	4	27	1	0	0	0	0	1	0	0	0	13459	1020	36	5	1199	5	RNF168	3	196214296	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	163467	196214296	1808134	2160	26111											
FBXO45	200933	broad.mit.edu	37	chr3	196304328	196304328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttcatctttttagatacGtgcttttcaacatgccttca	4	9	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:196304328G>A	uc010iai.2	+	2	454	c.323G>A	c.(322-324)CGT>CAT	p.R108H		NM_001105573	NP_001099043	P0C2W1	FBSP1_HUMAN	F-box protein 45	108	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			skin(1)	1	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TTTTAGATACGTGCTTTTCAA	0.313													A	196304328	G	A	196304328	3	1	27	1	0	0	0	0	1	0	0	0	5754	1145	40	1	329	1	FBXO45	3	196304328	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	90032	196304328	1718102	2161	26112											
LRRC33	375387	broad.mit.edu	37	chr3	196387867	196387867	+	Frame_Shift_Del	DEL	C	C	-													gctgcctcggaccgggtgggCccccctagctgtgtggattt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:196387866_196387866GC>G	uc003fwv.3	+	2	1456	c.1352_1352GC>G	c.(1351-1353)ggcfs	p.G451fs		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	451						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GACCGGGTGGGCCCCCCTAGC	0.582													-	196387867	C	-	196387867	7	5	27	1	0	1	0	1	0	0	0	0	8988	726	26	0	1359	0	LRRC33	3	196387867	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	83539	196387867	1634563	2162	26113											
SENP5	205564	broad.mit.edu	37	chr3	196612777	196612777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attatccatgattagatttcGgtacaggattctcagatccc	7	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:196612777G>A	uc003fwz.3	+	2	974	c.725G>A	c.(724-726)CGG>CAG	p.R242Q	SENP5_uc011bty.1_Missense_Mutation_p.R242Q	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	242					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			breast(2)|lung(1)	3	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		ATTAGATTTCGGTACAGGATT	0.418													A	196612777	G	A	196612777	3	1	27	1	0	0	0	0	1	0	0	0	14049	1116	39	1	727	1	SENP5	3	196612777	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	224910	196612777	1409653	2163	26114											
SENP5	205564	broad.mit.edu	37	chr3	196626927	196626927	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatggtcagaactggctgaaTgaccaggttagtatattgta	12	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:196626927T>C	uc003fwz.3	+	4	2001	c.1752T>C	c.(1750-1752)AAT>AAC	p.N584N	SENP5_uc011bty.1_Silent_p.N584N	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	584	Protease.				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			breast(2)|lung(1)	3	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		ACTGGCTGAATGACCAGGTTA	0.403													C	196626927	T	C	196626927	2	2	27	1	0	0	0	0	0	0	0	1	14049	1461	51	3		3	SENP5	3	196626927	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	14150	196626927	1395503	2164	26115											
MFI2	4241	broad.mit.edu	37	chr3	196730954	196730954	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaacccgttcttattgtggTcgtctccaaacaggtcctgg	10	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:196730954T>C	uc003fxk.3	-	15	2068	c.1955A>G	c.(1954-1956)GAC>GGC	p.D652G	uc003fxi.2_5'Flank|uc003fxj.1_Intron	NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	652	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CTTATTGTGGTCGTCTCCAAA	0.582													C	196730954	T	C	196730954	3	2	27	1	0	0	0	0	1	0	0	0	9522	1667	58	3	269	3	MFI2	3	196730954	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	104027	196730954	1291476	2165	26116											
MFI2	4241	broad.mit.edu	37	chr3	196736663	196736663	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccacggccaccacgtagtAcgagttgctgctgtcttccg	10	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:196736663A>G	uc003fxk.3	-	11	1464	c.1351T>C	c.(1351-1353)TAC>CAC	p.Y451H		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	451	Transferrin-like 2.	Iron 2 (By similarity).			cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		ACCACGTAGTACGAGTTGCTG	0.657													G	196736663	A	G	196736663	3	3	27	1	0	0	0	0	1	0	0	0	9522	391	14	3	889	3	MFI2	3	196736663	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	5709	196736663	1285767	2166	26117											
MFI2	4241	broad.mit.edu	37	chr3	196751234	196751234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaccaggtagcccacggGcacgttccagcccactgtgc	10	18	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:196751234G>A	uc003fxk.3	-	4	540	c.427C>T	c.(427-429)CCC>TCC	p.P143S	MFI2_uc003fxl.3_Missense_Mutation_p.P143S|MFI2_uc011bua.1_Missense_Mutation_p.P143S	NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	143	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TAGCCCACGGGCACGTTCCAG	0.642													A	196751234	G	A	196751234	3	1	27	1	0	0	0	0	1	0	0	0	9522	1203	42	2	2042	2	MFI2	3	196751234	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	14571	196751234	1271196	2167	26118											
DLG1	1739	broad.mit.edu	37	chr3	197023333	197023333	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatattcctccaaaaggtgcAatgctctctgggtatctgag	10	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:197023333A>G	uc003fxo.3	-	3	225	c.35T>C	c.(34-36)TTG>TCG	p.L12S	DLG1_uc003fxn.3_Missense_Mutation_p.L12S|DLG1_uc011bue.1_Missense_Mutation_p.L12S|DLG1_uc010ial.2_Missense_Mutation_p.L12S|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.L12S|uc003fxq.2_5'Flank	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	12	L27.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CAAAAGGTGCAATGCTCTCTG	0.373													G	197023333	A	G	197023333	3	3	27	1	0	0	0	0	1	0	0	0	4554	131	5	3	2879	3	DLG1	3	197023333	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	272099	197023333	999097	2168	26119											
KIAA0226	9711	broad.mit.edu	37	chr3	197428660	197428660	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcatagctgtttggaggggTgtatgtggaactgggcaggg	19	4	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:197428660T>C	uc003fyc.2	-	6	829	c.646A>G	c.(646-648)ACC>GCC	p.T216A	KIAA0226_uc003fyd.3_Missense_Mutation_p.T156A|KIAA0226_uc003fye.1_5'UTR|KIAA0226_uc003fyf.2_Missense_Mutation_p.T49A|KIAA0226_uc003fyg.2_Missense_Mutation_p.T209A	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	216	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TTTGGAGGGGTGTATGTGGAA	0.512													C	197428660	T	C	197428660	3	2	27	1	0	0	0	0	1	0	0	0	8162	1696	59	3	2381	3	KIAA0226	3	197428660	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	405327	197428660	593770	2169	26120											
IQCG	84223	broad.mit.edu	37	chr3	197665523	197665523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaaactccacagcgaaccgGcctctgtgtctgatttctgg	9	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:197665523G>A	uc003fyo.2	-	4	557	c.411C>T	c.(409-411)GGC>GGT	p.G137G	IQCG_uc003fyn.2_Silent_p.G39G|IQCG_uc003fyp.2_Silent_p.G137G|IQCG_uc003fyq.3_Silent_p.G137G	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	IQ motif containing G	137											0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CAGCGAACCGGCCTCTGTGTC	0.433													A	197665523	G	A	197665523	2	1	27	1	0	0	0	0	0	0	0	1	7810	1190	42	2		2	IQCG	3	197665523	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	236863	197665523	356907	2170	26121											
LMLN	89782	broad.mit.edu	37	chr3	197707271	197707271	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccaagaaggcatctcagaTgcagactttgttctttacgt	9	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr3:197707271T>G	uc011buo.1	+	6	646	c.624T>G	c.(622-624)GAT>GAG	p.D208E	LMLN_uc003fyt.2_Missense_Mutation_p.D156E|LMLN_uc010iar.2_Missense_Mutation_p.D208E|LMLN_uc010ias.2_Missense_Mutation_p.D156E|LMLN_uc003fyu.2_5'UTR	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	leishmanolysin-like isoform 2	208					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GCATCTCAGATGCAGACTTTG	0.532													G	197707271	T	G	197707271	3	3	27	1	0	0	0	0	1	0	0	0	8847	1461	51	5	646	5	LMLN	3	197707271	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	41748	197707271	315159	2171	26122											
ZNF721	170960	broad.mit.edu	37	chr4	436572	436572	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctaaaggttttgccacAttcttcacatgtgtagggtt	9	8	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:436572A>G	uc003gag.2	-	3	2375	c.1684T>C	c.(1684-1686)TGT>CGT	p.C562R	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.C594R|ZNF721_uc010ibe.2_Missense_Mutation_p.C550R	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	562						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						GTTTTGCCACATTCTTCACAT	0.413													G	436572	A	G	436572	3	3	27	1	0	0	0	0	1	0	0	0	18119	217	8	3	1091	3	ZNF721	4	436572	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08		436572	190717704	2172	26123											
PCGF3	10336	broad.mit.edu	37	chr4	731294	731294	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatattgtttacaaattggtAccaggcctccaagaaggtga	10	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:731294A>G	uc011bva.1	+	7	721	c.246A>G	c.(244-246)GTA>GTG	p.V82V	PCGF3_uc003gbd.1_RNA|PCGF3_uc003gbe.2_Silent_p.V82V|PCGF3_uc010ibh.2_Silent_p.V82V|PCGF3_uc003gbg.1_Silent_p.V48V|PCGF3_uc003gbh.2_Silent_p.V48V	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN	ring finger protein 3	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding				0						ACAAATTGGTACCAGGCCTCC	0.473													G	731294	A	G	731294	2	3	27	1	0	0	0	0	0	0	0	1	11576	378	14	3		3	PCGF3	4	731294	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	294722	731294	190422982	2173	26124											
TMEM175	84286	broad.mit.edu	37	chr4	949616	949616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccactcagcaaggagcgCgtggaagccttcagcgacgg	15	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:949616C>T	uc003gbq.2	+	10	878	c.780C>T	c.(778-780)CGC>CGT	p.R260R	TMEM175_uc010ibl.1_Silent_p.R260R|TMEM175_uc003gbp.1_Silent_p.R178R|TMEM175_uc003gbr.2_Silent_p.R178R|TMEM175_uc003gbu.2_Silent_p.R178R|TMEM175_uc003gbs.2_Silent_p.R143R|TMEM175_uc003gbt.2_Silent_p.R143R|TMEM175_uc003gbv.2_Silent_p.R143R|TMEM175_uc010ibm.2_Silent_p.R76R	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	260						integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCAAGGAGCGCGTGGAAGCCT	0.642													T	949616	C	T	949616	2	4	27	1	0	0	0	0	0	0	0	1	16088	755	27	1		1	TMEM175	4	949616	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	218322	949616	190204660	2174	26125											
SLC26A1	10861	broad.mit.edu	37	chr4	985234	985234	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaatgagtaggcgatggcCtgcggcaccaggatgatgcc	15	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:985234C>A	uc003gcb.2	-	3	636	c.258G>T	c.(256-258)CAG>CAT	p.Q86H	SLC26A1_uc003gbx.2_Missense_Mutation_p.Q86H|IDUA_uc003gby.2_Intron|IDUA_uc003gbz.2_Intron|IDUA_uc003gca.2_Intron|SLC26A1_uc003gcc.2_Missense_Mutation_p.Q86H	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	solute carrier family 26, member 1 isoform a	86	Helical; (Potential).					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGGCGATGGCCTGCGGCACCA	0.642													A	985234	C	A	985234	3	1	27	1	0	0	0	0	1	0	0	0	14514	680	24	5	1958	5	SLC26A1	4	985234	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	35618	985234	190169042	2175	26126											
IDUA	3425	broad.mit.edu	37	chr4	996113	996113	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacctccgccttcccctaCgcgctcctgagcaacgacaa	6	20	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:996113C>T	uc003gby.2	+	8	1117	c.1029C>T	c.(1027-1029)TAC>TAT	p.Y343Y	IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Silent_p.Y365Y	NM_000203	NP_000194	P35475	IDUA_HUMAN	alpha-L-iduronidase precursor	343					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	CCTTCCCCTACGCGCTCCTGA	0.687													T	996113	C	T	996113	2	4	27	1	0	0	0	0	0	0	0	1	7504	547	19	1		1	IDUA	4	996113	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	10879	996113	190158163	2176	26127											
IDUA	3425	broad.mit.edu	37	chr4	996128	996128	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctacgcgctcctgagcaaCgacaatgccttcctgagcta	8	16	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:996128C>T	uc003gby.2	+	8	1132	c.1044C>T	c.(1042-1044)AAC>AAT	p.N348N	IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Silent_p.N370N	NM_000203	NP_000194	P35475	IDUA_HUMAN	alpha-L-iduronidase precursor	348					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	TCCTGAGCAACGACAATGCCT	0.672													T	996128	C	T	996128	2	4	27	1	0	0	0	0	0	0	0	1	7504	535	19	1		1	IDUA	4	996128	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	15	996128	190158148	2177	26128											
RNF212	285498	broad.mit.edu	37	chr4	1067437	1067437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagattctcgcagggccgGctgctatctcagactaagaa	12	10	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:1067437G>A	uc003gcj.2	-	9	854	c.524C>T	c.(523-525)GCC>GTC	p.A175V	RNF212_uc003gch.2_Missense_Mutation_p.A17V|RNF212_uc003gci.2_Missense_Mutation_p.A175V|RNF212_uc010ibp.2_RNA|RNF212_uc010ibq.2_3'UTR	NM_001131034	NP_001124506	Q495C1	RN212_HUMAN	ring finger protein 212 isoform a	175							zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		CGCAGGGCCGGCTGCTATCTC	0.433											OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	1067437	G	A	1067437	3	1	27	1	0	0	0	0	1	0	0	0	13476	1203	42	2	377	2	RNF212	4	1067437	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	71309	1067437	190086839	2178	26129											
KIAA1530	57654	broad.mit.edu	37	chr4	1347004	1347004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctggcacccctgacccccGggacggggagcagccctgct	14	17	1	1	rs76217876	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:1347004G>A	uc003gde.3	+	5	1184	c.737G>A	c.(736-738)CGG>CAG	p.R246Q		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	246											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			CCTGACCCCCGGGACGGGGAG	0.706													A	1347004	G	A	1347004	3	1	27	1	0	0	0	0	1	0	0	0	8241	1116	39	1	751	1	KIAA1530	4	1347004	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	279567	1347004	189807272	2179	26130											
CRIPAK	285464	broad.mit.edu	37	chr4	1388698	1388698	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcacacgtgcccatgcGgagtgcccgcctgctcacac	10	18	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:1388698G>A	uc003gdf.2	+	1	3359	c.399G>A	c.(397-399)GCG>GCA	p.A133A		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	133					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGCCCATGCGGAGTGCCCGC	0.701													A	1388698	G	A	1388698	2	1	27	1	0	0	0	0	0	0	0	1	3877	1103	39	1		1	CRIPAK	4	1388698	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	41694	1388698	189765578	2180	26131											
CRIPAK	285464	broad.mit.edu	37	chr4	1389092	1389092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccgcctgctcacacgtgCccatgtggagtgcccgcctg	12	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:1389092C>T	uc003gdf.2	+	1	3753	c.793C>T	c.(793-795)CCC>TCC	p.P265S		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	265	7.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTCACACGTGCCCATGTGGAG	0.677													T	1389092	C	T	1389092	3	4	27	1	0	0	0	0	1	0	0	0	3877	739	26	2	795	2	CRIPAK	4	1389092	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	394	1389092	189765184	2181	26132											
FAM53A	152877	broad.mit.edu	37	chr4	1656774	1656774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcacgcctccgtttgcgCcggctcctcttcccactgag	8	19	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:1656774C>T	uc011bve.1	-	4	1011	c.813G>A	c.(811-813)CGG>CGA	p.R271R	FAM53A_uc010ibw.2_Silent_p.R271R	NM_001013622	NP_001013644	Q6NSI3	FA53A_HUMAN	dorsal neural-tube nuclear protein	271	Nuclear localization signal (Potential).					nucleus					0		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			TCCGTTTGCGCCGGCTCCTCT	0.667													T	1656774	C	T	1656774	2	4	27	1	0	0	0	0	0	0	0	1	5579	726	26	2		2	FAM53A	4	1656774	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	267682	1656774	189497502	2182	26133											
FGFR3	2261	broad.mit.edu	37	chr4	1806181	1806182	+	Frame_Shift_Ins	INS	-	-	C													cgctctgccgcctgcgcagcINSccccccaagaaaggcctggg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:1806180_1806181G>GC	uc003gdr.3	+	8	1455_1456	c.1199_1200G>GC	c.(1198-1200)agcfs	p.S400fs	FGFR3_uc003gdu.2_Frame_Shift_Ins_p.S402fs|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Frame_Shift_Ins_p.S400fs	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	400					JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.R399C(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CGCCTGCGCAGCCCCCCCAAGA	0.629		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				C	1806182	-	C	1806181	7	5	27	1	0	1	1	0	0	0	0	0	5867	738	26	0	1385	0	FGFR3	4	1806181	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	149407	1806181	189348095	2183	26134											
WHSC1	7468	broad.mit.edu	37	chr4	1902809	1902809	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctctctttgaatcttccaTttgtggtgacagtgctgctg	10	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:1902809T>G	uc003gdz.3	+	2	604	c.428T>G	c.(427-429)ATT>AGT	p.I143S	WHSC1_uc003geb.3_Missense_Mutation_p.I143S|WHSC1_uc003gec.3_Missense_Mutation_p.I143S|WHSC1_uc003ged.3_Missense_Mutation_p.I143S|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.I143S|WHSC1_uc003gdy.1_Missense_Mutation_p.I143S|WHSC1_uc010icd.1_Missense_Mutation_p.I143S|WHSC1_uc003gea.1_Missense_Mutation_p.I143S|WHSC1_uc010ice.1_Missense_Mutation_p.I143S|WHSC1_uc003geg.1_Missense_Mutation_p.I143S|WHSC1_uc003geh.1_Missense_Mutation_p.I143S	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	143					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GAATCTTCCATTTGTGGTGAC	0.418			T	IGH@	MM								G	1902809	T	G	1902809	3	3	27	1	0	0	0	0	1	0	0	0	17359	1493	52	5	430	5	WHSC1	4	1902809	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	96628	1902809	189251467	2184	26135											
POLN	353497	broad.mit.edu	37	chr4	2194956	2194956	+	Frame_Shift_Del	DEL	A	A	-													ttccaactgccatcattgccAaaaaactgcagcactattct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:2194955_2194955CA>C	uc003ger.2	-	4	1009	c.997_997TG>G	c.(997-999)ggcfs	p.G333fs	POLN_uc010ich.1_5'UTR|POLN_uc011bvi.1_Frame_Shift_Del_p.G333fs	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	Homo sapiens polymerase (DNA directed) nu (POLN), mRNA.	333					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CCATCATTGCCAAAAAACTGC	0.343								DNA polymerases (catalytic subunits)					-	2194956	A	-	2194956	7	5	27	1	0	1	0	1	0	0	0	0	12207	127	5	0	1786	0	POLN	4	2194956	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	292147	2194956	188959320	2185	26136											
HAUS3	79441	broad.mit.edu	37	chr4	2242244	2242246	+	In_Frame_Del	DEL	CTT	CTT	-													ctgcttcagctttttagtggCttcttcttctttagcattta					rs143139222		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:2242243_2242245GCTT>G	uc003ges.1	-	1	659_661	c.429_431AAGC>C	c.(427-432)gaagcc>gaCc	p.143_144EA>D	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_In_Frame_Del_p.143_144EA>D|HAUS3_uc003get.1_In_Frame_Del_p.143_144EA>D	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 3 (HAUS3), mRNA.	143					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTTTTTAGTGGCTTCTTCTTCTT	0.35													-	2242246	CTT	-	2242244	7	5	27	1	0	1	0	1	0	0	0	0	6967	797	28	0	1397	0	HAUS3	4	2242244	In_Frame_Del	DEL	CTT	TCGA-BR-6452-01A-12D-1800-08	47288	2242244	188912032	2186	26137											
ZFYVE28	57732	broad.mit.edu	37	chr4	2273447	2273447	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccagttcagaggatgAcagggtctcctggcacagtg	15	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:2273447A>G	uc003gex.1	-	11	2702	c.2383T>C	c.(2383-2385)TCA>CCA	p.S795P	ZFYVE28_uc011bvk.1_Missense_Mutation_p.S725P|ZFYVE28_uc011bvl.1_Missense_Mutation_p.S765P|ZFYVE28_uc003gew.1_Missense_Mutation_p.S681P	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	795					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			skin(2)|ovary(1)	3						TCAGAGGATGACAGGGTCTCC	0.632													G	2273447	A	G	2273447	3	3	27	1	0	0	0	0	1	0	0	0	17667	275	10	3	292	3	ZFYVE28	4	2273447	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	31203	2273447	188880829	2187	26138											
SH3BP2	6452	broad.mit.edu	37	chr4	2834759	2834759	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctaacaaagtgaggaacTatcgcatttttgagaaggtg	10	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:2834759T>C	uc003gfi.3	+	12	1651	c.1531T>C	c.(1531-1533)TAT>CAT	p.Y511H	SH3BP2_uc011bvp.1_Missense_Mutation_p.Y539H|SH3BP2_uc003gfj.3_Missense_Mutation_p.Y568H|SH3BP2_uc003gfk.3_Missense_Mutation_p.Y511H|SH3BP2_uc003gfl.3_Missense_Mutation_p.Y444H|SH3BP2_uc003gfm.3_Missense_Mutation_p.Y486H	NM_001122681	NP_001116153	P78314	3BP2_HUMAN	SH3-domain binding protein 2 isoform a	511	SH2.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		AGTGAGGAACTATCGCATTTT	0.602									Cherubism				C	2834759	T	C	2834759	3	2	27	1	0	0	0	0	1	0	0	0	14245	1522	53	3	1832	3	SH3BP2	4	2834759	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	561312	2834759	188319517	2188	26139											
ADD1	118	broad.mit.edu	37	chr4	2886334	2886334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattacggtgtaaattggcaGcgttttatagactagcagat	10	5	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:2886334G>A	uc003gfr.2	+	4	639	c.451G>A	c.(451-453)GCG>ACG	p.A151T	ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Missense_Mutation_p.A151T|ADD1_uc003gfo.2_Missense_Mutation_p.A151T|ADD1_uc003gfp.2_Missense_Mutation_p.A151T|ADD1_uc003gfq.2_Missense_Mutation_p.A151T|ADD1_uc003gfs.2_Missense_Mutation_p.A151T|ADD1_uc003gft.3_Missense_Mutation_p.A151T|ADD1_uc003gfu.2_5'Flank	NM_001119	NP_001110	P35611	ADDA_HUMAN	adducin 1 (alpha) isoform a	151					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TAAATTGGCAGCGTTTTATAG	0.383													A	2886334	G	A	2886334	3	1	27	1	0	0	0	0	1	0	0	0	304	971	34	2	461	2	ADD1	4	2886334	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	51575	2886334	188267942	2189	26140											
GRK4	2868	broad.mit.edu	37	chr4	3037113	3037113	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatttctgcctcttgcagTtactcaccaagaatccaagc	6	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:3037113T>C	uc003ggn.1	+	13	1725	c.1270T>C	c.(1270-1272)TTA>CTA	p.L424L	GRK4_uc003ggo.1_Silent_p.L424L|GRK4_uc003ggp.1_Silent_p.L392L|GRK4_uc003ggq.1_Silent_p.L392L	NM_182982	NP_892027	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4 isoform	424	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTCTTGCAGTTACTCACCAA	0.532													C	3037113	T	C	3037113	2	2	27	1	0	0	0	0	0	0	0	1	6791	1739	60	3		3	GRK4	4	3037113	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	150779	3037113	188117163	2190	26141											
HTT	3064	broad.mit.edu	37	chr4	3148604	3148604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatgattctgaccctgctctCgtcagcttggttcccattgg	9	12	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:3148604C>T	uc011bvq.1	+	26	3375	c.3230C>T	c.(3229-3231)TCG>TTG	p.S1077L		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1075					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACCCTGCTCTCGTCAGCTTGG	0.507													T	3148604	C	T	3148604	3	4	27	1	0	0	0	0	1	0	0	0	7457	893	31	1	3322	1	HTT	4	3148604	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	111491	3148604	188005672	2191	26142											
RGS12	6002	broad.mit.edu	37	chr4	3318001	3318001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggccggctacggattcaCgctttcgggacaggcaccct	14	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:3318001C>T	uc003ggw.2	+	2	1008	c.104C>T	c.(103-105)ACG>ATG	p.T35M	RGS12_uc003ggu.2_Missense_Mutation_p.T35M|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.T35M|RGS12_uc003ggx.1_Missense_Mutation_p.T35M	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	35	PDZ.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TACGGATTCACGCTTTCGGGA	0.642													T	3318001	C	T	3318001	3	4	27	1	0	0	0	0	1	0	0	0	13295	536	19	1	106	1	RGS12	4	3318001	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	169397	3318001	187836275	2192	26143											
RGS12	6002	broad.mit.edu	37	chr4	3318443	3318443	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaactcgatttgatgttggAcatgaaagtataaataatcc	8	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:3318443A>G	uc003ggw.2	+	2	1450	c.546A>G	c.(544-546)GGA>GGG	p.G182G	RGS12_uc003ggu.2_Silent_p.G182G|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Silent_p.G182G|RGS12_uc003ggx.1_Silent_p.G182G	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	182						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTGATGTTGGACATGAAAGTA	0.388													G	3318443	A	G	3318443	2	3	27	1	0	0	0	0	0	0	0	1	13295	262	10	3		3	RGS12	4	3318443	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	442	3318443	187835833	2193	26144											
LRPAP1	4043	broad.mit.edu	37	chr4	3526647	3526647	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgtaccattgaggttgcgTatgagtctcgcttccttctc	9	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:3526647T>C	uc003ghi.2	-	2	421	c.336A>G	c.(334-336)ATA>ATG	p.I112M		NM_002337	NP_002328	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein	112					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TGAGGTTGCGTATGAGTCTCG	0.333													C	3526647	T	C	3526647	3	2	27	1	0	0	0	0	1	0	0	0	8964	1628	57	3	765	3	LRPAP1	4	3526647	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	208204	3526647	187627629	2194	26145											
ADRA2C	152	broad.mit.edu	37	chr4	3769612	3769612	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttcttcttctggatcggcTactgcaacagctcgctcaac	8	13	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:3769612T>C	uc003ghm.2	+	1	1317	c.1279T>C	c.(1279-1281)TAC>CAC	p.Y427H	ADRA2C_uc010icx.2_Intron	NM_000683	NP_000674	P18825	ADA2C_HUMAN	alpha-2C-adrenergic receptor	427	Helical; Name=7; (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CTGGATCGGCTACTGCAACAG	0.582													C	3769612	T	C	3769612	3	2	27	1	0	0	0	0	1	0	0	0	339	1522	53	3	1281	3	ADRA2C	4	3769612	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	242965	3769612	187384664	2195	26146											
EVC2	132884	broad.mit.edu	37	chr4	5624510	5624510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgagttctgcaggcgcCgcagctcgtcggtggccttt	15	12	1	1	rs139717271		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:5624510C>T	uc003gij.2	-	14	2309	c.2255G>A	c.(2254-2256)CGG>CAG	p.R752Q	EVC2_uc011bwb.1_Missense_Mutation_p.R192Q|EVC2_uc003gik.2_Missense_Mutation_p.R672Q	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	752	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5						CTGCAGGCGCCGCAGCTCGTC	0.647													T	5624510	C	T	5624510	3	4	27	1	0	0	0	0	1	0	0	0	5286	652	23	1	1707	1	EVC2	4	5624510	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1854898	5624510	185529766	2196	26147											
EVC	2121	broad.mit.edu	37	chr4	5754593	5754593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggacgatggggcgggcgCacatggcaaaagtgattgag	18	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:5754593C>T	uc003gil.1	+	9	1313	c.1129C>T	c.(1129-1131)CAC>TAC	p.H377Y	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	377					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				GGGGCGGGCGCACATGGCAAA	0.587													T	5754593	C	T	5754593	3	4	27	1	0	0	0	0	1	0	0	0	5285	710	25	2	1163	2	EVC	4	5754593	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	130083	5754593	185399683	2197	26148											
EVC	2121	broad.mit.edu	37	chr4	5785362	5785362	+	Frame_Shift_Del	DEL	C	C	-													ctccctggcatgactggcctCcccccggaagagtgtgacta							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:5785361_5785361TC>T	uc003gil.1	+	11	1830	c.1646_1646TC>T	c.(1645-1647)ctcfs	p.L549fs	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	549					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ATGACTGGCCTCCCCCCGGAA	0.587													-	5785362	C	-	5785362	7	5	27	1	0	1	0	1	0	0	0	0	5285	842	30	0	1693	0	EVC	4	5785362	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	30769	5785362	185368914	2198	26149											
JAKMIP1	152789	broad.mit.edu	37	chr4	6064122	6064122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagggcctggtactcccGggtcagctggcagaagcgca	15	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:6064122G>A	uc003giu.3	-	10	1753	c.1477C>T	c.(1477-1479)CGG>TGG	p.R493W	JAKMIP1_uc010idb.1_Missense_Mutation_p.R493W|JAKMIP1_uc010idc.1_Missense_Mutation_p.R308W|JAKMIP1_uc010idd.1_Missense_Mutation_p.R493W|JAKMIP1_uc011bwc.1_Missense_Mutation_p.R328W|JAKMIP1_uc003giv.3_Missense_Mutation_p.R493W|JAKMIP1_uc010ide.2_Missense_Mutation_p.R493W	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	493	Mediates interaction with TYK2 and GABBR1.|Potential.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.R493L(1)		large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						TGGTACTCCCGGGTCAGCTGG	0.577													A	6064122	G	A	6064122	3	1	27	1	0	0	0	0	1	0	0	0	7940	1115	39	1	1141	1	JAKMIP1	4	6064122	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	278760	6064122	185090154	2199	26150											
JAKMIP1	152789	broad.mit.edu	37	chr4	6083425	6083425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcattcttcttgttcatccGcttgttcttctccaccaggg	6	14	6	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:6083425G>A	uc003giu.3	-	6	1288	c.1012C>T	c.(1012-1014)CGG>TGG	p.R338W	JAKMIP1_uc010idb.1_Missense_Mutation_p.R338W|JAKMIP1_uc010idc.1_Missense_Mutation_p.R173W|JAKMIP1_uc010idd.1_Missense_Mutation_p.R338W|JAKMIP1_uc011bwc.1_Missense_Mutation_p.R173W|JAKMIP1_uc003giv.3_Missense_Mutation_p.R338W|JAKMIP1_uc010ide.2_Missense_Mutation_p.R338W	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	338	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						TTGTTCATCCGCTTGTTCTTC	0.512													A	6083425	G	A	6083425	3	1	27	1	0	0	0	0	1	0	0	0	7940	1086	38	1	1622	1	JAKMIP1	4	6083425	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	19303	6083425	185070851	2200	26151											
WFS1	7466	broad.mit.edu	37	chr4	6303480	6303480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggttctatgtgtaccGctcagagggcatgaaggtct	13	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:6303480G>A	uc003giy.2	+	8	2124	c.1958G>A	c.(1957-1959)CGC>CAC	p.R653H	WFS1_uc003gix.2_Missense_Mutation_p.R653H|WFS1_uc003giz.2_Missense_Mutation_p.R471H	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	653			R -> C (in a patient with type 2 diabetes).		endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)		TATGTGTACCGCTCAGAGGGC	0.612													A	6303480	G	A	6303480	3	1	27	1	0	0	0	0	1	0	0	0	17357	1087	38	1	1984	1	WFS1	4	6303480	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	220055	6303480	184850796	2201	26152											
WFS1	7466	broad.mit.edu	37	chr4	6303751	6303751	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcctaccctgcctgcagCcctggcaacacctccacggc	10	19	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:6303751C>T	uc003giy.2	+	8	2395	c.2229C>T	c.(2227-2229)AGC>AGT	p.S743S	WFS1_uc003gix.2_Silent_p.S743S|WFS1_uc003giz.2_Silent_p.S561S	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	743					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)		CTGCCTGCAGCCCTGGCAACA	0.607													T	6303751	C	T	6303751	2	4	27	1	0	0	0	0	0	0	0	1	17357	738	26	2		2	WFS1	4	6303751	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	271	6303751	184850525	2202	26153											
PPP2R2C	5522	broad.mit.edu	37	chr4	6380273	6380273	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgtacacgtcgtattcGccctggctgtggggcgcatt	14	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:6380273G>A	uc003gjc.2	-	3	565	c.195C>T	c.(193-195)GGC>GGT	p.G65G	PPP2R2C_uc003gjb.2_Silent_p.G48G|PPP2R2C_uc011bwd.1_Silent_p.G58G|PPP2R2C_uc011bwe.1_Silent_p.G58G|PPP2R2C_uc003gja.2_Silent_p.G65G|PPP2R2C_uc003gjd.1_Silent_p.G153G	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	65					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						CGTCGTATTCGCCCTGGCTGT	0.587													A	6380273	G	A	6380273	2	1	27	1	0	0	0	0	0	0	0	1	12386	1074	38	1		1	PPP2R2C	4	6380273	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	76522	6380273	184774003	2203	26154											
KIAA0232	9778	broad.mit.edu	37	chr4	6826332	6826332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagagctcgagaaatgtgGcattgatgccatgatttaca	10	7	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:6826332G>A	uc003gjr.3	+	3	615	c.152G>A	c.(151-153)GGC>GAC	p.G51D	KIAA0232_uc003gjq.3_Missense_Mutation_p.G51D	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	51							ATP binding			ovary(2)	2						GAGAAATGTGGCATTGATGCC	0.463													A	6826332	G	A	6826332	3	1	27	1	0	0	0	0	1	0	0	0	8163	1203	42	2	154	2	KIAA0232	4	6826332	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	446059	6826332	184327944	2204	26155											
KIAA0232	9778	broad.mit.edu	37	chr4	6863906	6863906	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgttcatccagctccggTgatgctgatggggagagttt	14	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:6863906T>C	uc003gjr.3	+	7	2260	c.1797T>C	c.(1795-1797)GGT>GGC	p.G599G	KIAA0232_uc003gjq.3_Silent_p.G599G	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	599							ATP binding			ovary(2)	2						CCAGCTCCGGTGATGCTGATG	0.517													C	6863906	T	C	6863906	2	2	27	1	0	0	0	0	0	0	0	1	8163	1683	59	3		3	KIAA0232	4	6863906	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	37574	6863906	184290370	2205	26156											
TBC1D14	57533	broad.mit.edu	37	chr4	7011616	7011616	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccttttagggtggtccatatCatgacatgttgcacagtatt	9	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:7011616C>T	uc011bwg.1	+	10	1538	c.1459C>T	c.(1459-1461)CAT>TAT	p.H487Y	TBC1D14_uc003gjs.3_Missense_Mutation_p.H487Y|TBC1D14_uc010idh.2_Missense_Mutation_p.H207Y|TBC1D14_uc011bwh.1_Missense_Mutation_p.H134Y|TBC1D14_uc003gju.3_Intron	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14 isoform a	487	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2						TGGTCCATATCATGACATGTT	0.408													T	7011616	C	T	7011616	3	4	27	1	0	0	0	0	1	0	0	0	15600	826	29	4	1500	4	TBC1D14	4	7011616	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	147710	7011616	184142660	2206	26157											
TADA2B	93624	broad.mit.edu	37	chr4	7056629	7056629	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagtccagcccgctacgtgActgtgaagactattataatt	9	9	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:7056629A>G	uc003gjw.3	+	2	1262	c.1111A>G	c.(1111-1113)ACT>GCT	p.T371A	TADA2B_uc010idi.2_Missense_Mutation_p.T296A	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2 (ADA2 homolog,	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding				0						CCGCTACGTGACTGTGAAGAC	0.512													G	7056629	A	G	7056629	3	3	27	1	0	0	0	0	1	0	0	0	15508	275	10	3	1117	3	TADA2B	4	7056629	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	45013	7056629	184097647	2207	26158											
GRPEL1	80273	broad.mit.edu	37	chr4	7064145	7064145	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccaccaatttctggcTcctctgccgtaagttctcag	6	16	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:7064145T>C	uc003gjy.1	-	3	315	c.274A>G	c.(274-276)AGC>GGC	p.S92G	GRPEL1_uc003gjz.1_Missense_Mutation_p.S92G	NM_025196	NP_079472	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial precursor	92					protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding				0						AATTTCTGGCTCCTCTGCCGT	0.368													C	7064145	T	C	7064145	3	2	27	1	0	0	0	0	1	0	0	0	6806	1551	54	3	387	3	GRPEL1	4	7064145	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	7516	7064145	184090131	2208	26159											
AFAP1	60312	broad.mit.edu	37	chr4	7788020	7788020	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatatgggttagcagatatAacacgcctgttcatgaaact	9	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:7788020A>G	uc003gkg.1	-	12	1704	c.1431T>C	c.(1429-1431)GTT>GTC	p.V477V	AFAP1_uc011bwk.1_Silent_p.V477V	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	477						actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						TAGCAGATATAACACGCCTGT	0.478													G	7788020	A	G	7788020	2	3	27	1	0	0	0	0	0	0	0	1	353	349	13	3		3	AFAP1	4	7788020	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	723875	7788020	183366256	2209	26160											
AFAP1	60312	broad.mit.edu	37	chr4	7795484	7795484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatagtgcagagcctccgGgtctgtggacgatcccgtct	13	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:7795484G>A	uc003gkg.1	-	11	1609	c.1336C>T	c.(1336-1338)CCG>TCG	p.P446S	AFAP1_uc011bwk.1_Missense_Mutation_p.P446S	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	446						actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						AGAGCCTCCGGGTCTGTGGAC	0.488													A	7795484	G	A	7795484	3	1	27	1	0	0	0	0	1	0	0	0	353	1232	43	4	1140	4	AFAP1	4	7795484	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	7464	7795484	183358792	2210	26161											
AFAP1	60312	broad.mit.edu	37	chr4	7840356	7840356	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcttctttttgctgtctttCgggatgtacgtaatgttaca	8	7	3	0	rs144556165		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:7840356C>T	uc003gkg.1	-	6	894	c.621G>A	c.(619-621)CCG>CCA	p.P207P	AFAP1_uc011bwk.1_Silent_p.P207P	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	207	PH 1.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						TGCTGTCTTTCGGGATGTACG	0.512													T	7840356	C	T	7840356	2	4	27	1	0	0	0	0	0	0	0	1	353	871	31	1		1	AFAP1	4	7840356	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	44872	7840356	183313920	2211	26162											
SH3TC1	54436	broad.mit.edu	37	chr4	8229166	8229166	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcccaggcccgggtgtActttgaggaagcgctggggg	18	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:8229166A>T	uc003gkv.3	+	12	1846	c.1745A>T	c.(1744-1746)TAC>TTC	p.Y582F	SH3TC1_uc003gkw.3_Missense_Mutation_p.Y506F|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	582	TPR 1.						binding			large_intestine(2)|pancreas(1)	3						GCCCGGGTGTACTTTGAGGAA	0.652													T	8229166	A	T	8229166	3	4	27	1	0	0	0	0	1	0	0	0	14261	391	14	5	1787	5	SH3TC1	4	8229166	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	388810	8229166	182925110	2212	26163											
SH3TC1	54436	broad.mit.edu	37	chr4	8229515	8229515	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttttgcacagggactcGggagccccagaggccgcgtg	15	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:8229515G>A	uc003gkv.3	+	12	2195	c.2094G>A	c.(2092-2094)TCG>TCA	p.S698S	SH3TC1_uc003gkw.3_Silent_p.S622S|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	698	TPR 3.						binding			large_intestine(2)|pancreas(1)	3						ACAGGGACTCGGGAGCCCCAG	0.662													A	8229515	G	A	8229515	2	1	27	1	0	0	0	0	0	0	0	1	14261	1103	39	1		1	SH3TC1	4	8229515	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	349	8229515	182924761	2213	26164											
SH3TC1	54436	broad.mit.edu	37	chr4	8233870	8233870	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagccagctctacctgtccCtgggcaccgagcggtgaggg	14	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:8233870C>A	uc003gkv.3	+	13	3219	c.3118C>A	c.(3118-3120)CTG>ATG	p.L1040M	SH3TC1_uc003gkw.3_Missense_Mutation_p.L964M|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_RNA	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1040	TPR 7.						binding			large_intestine(2)|pancreas(1)	3						CTACCTGTCCCTGGGCACCGA	0.493													A	8233870	C	A	8233870	3	1	27	1	0	0	0	0	1	0	0	0	14261	680	24	5	3164	5	SH3TC1	4	8233870	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4355	8233870	182920406	2214	26165											
HTRA3	94031	broad.mit.edu	37	chr4	8307843	8307843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgacctcctcttcagcatcGcacctgaggtggtcatgtga	10	13	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:8307843G>A	uc003gla.2	+	9	1546	c.1342G>A	c.(1342-1344)GCA>ACA	p.A448T		NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	448					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1						CTTCAGCATCGCACCTGAGGT	0.647													A	8307843	G	A	8307843	3	1	27	1	0	0	0	0	1	0	0	0	7455	1087	38	1	1376	1	HTRA3	4	8307843	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	73973	8307843	182846433	2215	26166											
ZNF518B	85460	broad.mit.edu	37	chr4	10447359	10447359	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atataatcatttctaatagcAccatagtcacaatactcaca	2	10	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:10447359A>G	uc003gmn.2	-	3	1081	c.594T>C	c.(592-594)GGT>GGC	p.G198G		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	198	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4						TTCTAATAGCACCATAGTCAC	0.428													G	10447359	A	G	10447359	2	3	27	1	0	0	0	0	0	0	0	1	17960	146	6	3		3	ZNF518B	4	10447359	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2139516	10447359	180706917	2216	26167											
BOD1L	259282	broad.mit.edu	37	chr4	13590398	13590398	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatggcttctgcgttgtctTttctaccactggatatctct	7	10	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:13590398T>C	uc003gmz.1	-	15	8345	c.8228A>G	c.(8227-8229)AAA>AGA	p.K2743R		NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2743							DNA binding			ovary(5)|breast(1)	6						TGCGTTGTCTTTTCTACCACT	0.289													C	13590398	T	C	13590398	3	2	27	1	0	0	0	0	1	0	0	0	1483	1841	64	3	975	3	BOD1L	4	13590398	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3143039	13590398	177563878	2217	26168											
BOD1L	259282	broad.mit.edu	37	chr4	13603610	13603610	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgctatttacattggcttcGattttaactgcatgcacagc	7	10	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:13603610G>A	uc003gmz.1	-	10	5031	c.4914C>T	c.(4912-4914)ATC>ATT	p.I1638I	BOD1L_uc010idr.1_Silent_p.I975I	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1638							DNA binding			ovary(5)|breast(1)	6						CATTGGCTTCGATTTTAACTG	0.473													A	13603610	G	A	13603610	2	1	27	1	0	0	0	0	0	0	0	1	1483	1048	37	1		1	BOD1L	4	13603610	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	13212	13603610	177550666	2218	26169											
BOD1L	259282	broad.mit.edu	37	chr4	13616982	13616982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcatcatcgggagctgtGttgccacttccttcctcttt	7	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:13616982G>A	uc003gmz.1	-	3	630	c.513C>T	c.(511-513)AAC>AAT	p.N171N	BOD1L_uc010idr.1_5'UTR|BOD1L_uc010ids.1_RNA	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	171							DNA binding			ovary(5)|breast(1)	6						CGGGAGCTGTGTTGCCACTTC	0.433													A	13616982	G	A	13616982	2	1	27	1	0	0	0	0	0	0	0	1	1483	1368	48	4		4	BOD1L	4	13616982	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	13372	13616982	177537294	2219	26170											
CPEB2	132864	broad.mit.edu	37	chr4	15018811	15018811	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttttcctcttctcttccaGgatcgaagtagaatgtatga	7	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:15018811G>A	uc003gni.1	+	4	811	c.724_splice	c.e4-1	p.D242_splice	CPEB2_uc003gnj.1_Splice_Site_p.D212_splice|CPEB2_uc003gnk.1_Splice_Site_p.D242_splice|CPEB2_uc003gnl.1_Splice_Site_p.D215_splice|CPEB2_uc003gnm.1_Splice_Site_p.D212_splice|CPEB2_uc003gnn.1_Splice_Site_p.D215_splice	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding						regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1						TTCTCTTCCAGGATCGAAGTA	0.338													A	15018811	G	A	15018811	5	1	27	1	0	0	0	0	0	0	1	0	3801	1014	35	4	2057	4	CPEB2	4	15018811	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1401829	15018811	176135465	2220	26171											
FBXL5	26234	broad.mit.edu	37	chr4	15614035	15614035	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctcctcccagagtcaaaAccctgtaagaaaaataattt	5	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:15614035A>C	uc003goc.1	-	10	1956	c.1853T>G	c.(1852-1854)GTT>GGT	p.V618G	FBXL5_uc010idw.1_Missense_Mutation_p.V531G|FBXL5_uc003gob.1_Missense_Mutation_p.V492G|FBXL5_uc010idx.1_Missense_Mutation_p.V617G|FBXL5_uc003god.1_Missense_Mutation_p.V601G|FBXL5_uc010idy.1_Missense_Mutation_p.V618G	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5 isoform	618	LRR 6.				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity				0						CAGAGTCAAAACCCTGTAAGA	0.368													C	15614035	A	C	15614035	3	2	27	1	0	0	0	0	1	0	0	0	5722	43	2	5	230	5	FBXL5	4	15614035	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	595224	15614035	175540241	2221	26172											
FGFBP2	83888	broad.mit.edu	37	chr4	15964674	15964674	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaattcctccccagtgcttcCttgcttttgcctcggggcct	9	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:15964674C>A	uc003gon.2	-	1	186	c.79G>T	c.(79-81)GGA>TGA	p.G27*		NM_031950	NP_114156	Q9BYJ0	FGFP2_HUMAN	killer-specific secretory protein of 37 kDa	27						extracellular space	growth factor binding				0						CCAGTGCTTCCTTGCTTTTGC	0.577													A	15964674	C	A	15964674	4	1	27	1	0	0	0	0	0	1	0	0	5861	690	24	5	596	5	FGFBP2	4	15964674	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	350639	15964674	175189602	2222	26173											
PROM1	8842	broad.mit.edu	37	chr4	15994012	15994012	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactgcttatgcttccagtAtgctgcgaaaaaaggaagtt	9	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:15994012A>G	uc003goo.2	-	16	1982	c.1770T>C	c.(1768-1770)CAT>CAC	p.H590H	PROM1_uc003gor.2_Silent_p.H590H|PROM1_uc003gos.2_Silent_p.H581H|PROM1_uc003got.2_Silent_p.H590H|PROM1_uc003gou.2_Silent_p.H581H|PROM1_uc003gop.2_Silent_p.H581H|PROM1_uc003goq.3_Silent_p.H581H	NM_006017	NP_006008	O43490	PROM1_HUMAN	prominin 1 isoform 1	590	Extracellular (Potential).				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7						TGCTTCCAGTATGCTGCGAAA	0.333													G	15994012	A	G	15994012	2	3	27	1	0	0	0	0	0	0	0	1	12555	446	16	3		3	PROM1	4	15994012	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	29338	15994012	175160264	2223	26174											
TAPT1	202018	broad.mit.edu	37	chr4	16188435	16188435	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgatagtaagcaaagacTtgttgtgtgagttaaaagct	10	4	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:16188435T>C	uc010ied.1	-	6	896	c.815A>G	c.(814-816)AAG>AGG	p.K272R	TAPT1_uc011bxd.1_Intron|TAPT1_uc011bxe.1_Missense_Mutation_p.K161R	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation	272						integral to membrane	growth hormone-releasing hormone receptor activity				0						AAGCAAAGACTTGTTGTGTGA	0.328													C	16188435	T	C	16188435	3	2	27	1	0	0	0	0	1	0	0	0	15551	1609	56	3	924	3	TAPT1	4	16188435	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	194423	16188435	174965841	2224	26175											
LDB2	9079	broad.mit.edu	37	chr4	16504355	16504355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggctgttgttccccagcgCgggtgaattgttgaagtcct	14	10	0	2	rs138614817		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:16504355C>T	uc003goz.2	-	8	1349	c.1033G>A	c.(1033-1035)GCG>ACG	p.A345T	LDB2_uc003gpa.2_3'UTR|LDB2_uc003gpb.2_Missense_Mutation_p.A343T|LDB2_uc011bxh.1_Missense_Mutation_p.A317T|LDB2_uc010iee.2_3'UTR|LDB2_uc003goy.2_Missense_Mutation_p.A220T|LDB2_uc011bxi.1_3'UTR	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	345							LIM domain binding|transcription cofactor activity				0						TTCCCCAGCGCGGGTGAATTG	0.532													T	16504355	C	T	16504355	3	4	27	1	0	0	0	0	1	0	0	0	8696	768	27	1	92	1	LDB2	4	16504355	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	315920	16504355	174649921	2225	26176											
DCAF16	54876	broad.mit.edu	37	chr4	17805232	17805232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttagtcagccagccacagCaacacccagaaacacatgaa	6	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:17805232C>T	uc003gpn.2	-	3	1594	c.533G>A	c.(532-534)TGC>TAC	p.C178Y	DCAF16_uc003gpo.2_RNA	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	178						CUL4 RING ubiquitin ligase complex				ovary(1)	1						CCAGCCACAGCAACACCCAGA	0.428													T	17805232	C	T	17805232	3	4	27	1	0	0	0	0	1	0	0	0	4268	710	25	2	121	2	DCAF16	4	17805232	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1300877	17805232	173349044	2226	26177											
DCAF16	54876	broad.mit.edu	37	chr4	17805389	17805389	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgggacttgtaagaggctTttgaaaaggtgggactccac	14	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:17805389T>C	uc003gpn.2	-	3	1437	c.376A>G	c.(376-378)AAG>GAG	p.K126E	DCAF16_uc003gpo.2_RNA	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	126						CUL4 RING ubiquitin ligase complex				ovary(1)	1						GTAAGAGGCTTTTGAAAAGGT	0.502													C	17805389	T	C	17805389	3	2	27	1	0	0	0	0	1	0	0	0	4268	1850	64	3	278	3	DCAF16	4	17805389	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	157	17805389	173348887	2227	26178											
SLIT2	9353	broad.mit.edu	37	chr4	20521008	20521008	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaaatatttttttcagtgtCctctatggaaataaaatcac	4	6	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:20521008C>T	uc003gpr.1	+	12	1266	c.1062C>T	c.(1060-1062)GTC>GTT	p.V354V	SLIT2_uc003gps.1_Silent_p.V354V	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	354	LRR 9.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						ttttCAGTGTCCTCTATGGAA	0.328													T	20521008	C	T	20521008	2	4	27	1	0	0	0	0	0	0	0	1	14740	842	30	4		4	SLIT2	4	20521008	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2715619	20521008	170633268	2228	26179											
SLIT2	9353	broad.mit.edu	37	chr4	20525792	20525792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcaaaagcaagaaattccGttgttcaggtaatttcttca	7	7	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:20525792G>A	uc003gpr.1	+	14	1634	c.1430G>A	c.(1429-1431)CGT>CAT	p.R477H	SLIT2_uc003gps.1_Missense_Mutation_p.R477H	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	477	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						AAGAAATTCCGTTGTTCAGGT	0.478													A	20525792	G	A	20525792	3	1	27	1	0	0	0	0	1	0	0	0	14740	1145	40	1	1484	1	SLIT2	4	20525792	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4784	20525792	170628484	2229	26180											
SLIT2	9353	broad.mit.edu	37	chr4	20597443	20597443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggctatacgtgcatatgCcccgaaggttacaggtaaaa	10	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:20597443C>T	uc003gpr.1	+	31	3510	c.3306C>T	c.(3304-3306)TGC>TGT	p.C1102C	SLIT2_uc003gps.1_Silent_p.C1094C	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1102	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						CGTGCATATGCCCCGAAGGTT	0.303													T	20597443	C	T	20597443	2	4	27	1	0	0	0	0	0	0	0	1	14740	747	26	2		2	SLIT2	4	20597443	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	71651	20597443	170556833	2230	26181											
PACRGL	133015	broad.mit.edu	37	chr4	20711339	20711339	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtaaaacacagattacaGtgggaatgtcctcctgaaag	9	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:20711339G>A	uc010iek.2	+	5	700	c.309G>A	c.(307-309)CAG>CAA	p.Q103Q	PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Silent_p.Q151Q|PACRGL_uc003gpz.2_Silent_p.Q103Q|PACRGL_uc011bxm.1_Intron|PACRGL_uc003gqa.2_Intron|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Silent_p.Q103Q|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Intron|PACRGL_uc003gpy.2_Intron	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like isoform 1	103							binding				0						ACAGATTACAGTGGGAATGTC	0.294													A	20711339	G	A	20711339	2	1	27	1	0	0	0	0	0	0	0	1	11371	1020	36	4		4	PACRGL	4	20711339	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	113896	20711339	170442937	2231	26182											
KCNIP4	80333	broad.mit.edu	37	chr4	20734355	20734355	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcatcttctttgaggacaggAtatgtacatttacccatcat	7	9	3	1	rs141959590	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:20734355A>T	uc003gqe.2	-	6	624	c.540T>A	c.(538-540)TAT>TAA	p.Y180*	KCNIP4_uc003gqf.1_Nonsense_Mutation_p.Y176*|KCNIP4_uc003gqg.1_Nonsense_Mutation_p.Y135*|KCNIP4_uc003gqh.1_Nonsense_Mutation_p.Y172*|KCNIP4_uc003gqi.1_Nonsense_Mutation_p.Y135*|PACRGL_uc003gpu.2_Intron|PACRGL_uc003gpx.3_Intron|PACRGL_uc003gpw.2_Intron|KCNIP4_uc010iel.2_Nonsense_Mutation_p.Y177*|KCNIP4_uc003gqd.3_Nonsense_Mutation_p.Y160*	NM_147182	NP_671711	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4 isoform 3	197						plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity				0		Breast(46;0.134)				TGAGGACAGGATATGTACATT	0.368													T	20734355	A	T	20734355	4	4	27	1	0	0	0	0	0	1	0	0	8042	340	12	5	173	5	KCNIP4	4	20734355	Nonsense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	23016	20734355	170419921	2232	26183											
GPR125	166647	broad.mit.edu	37	chr4	22463404	22463404	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggcacctggatctatActactaataagattgtttcg	8	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:22463404A>G	uc003gqm.1	-	3	622	c.357T>C	c.(355-357)AGT>AGC	p.S119S	GPR125_uc003gqo.2_Silent_p.S119S	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	119	Extracellular (Potential).|LRR 2.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				CTGGATCTATACTACTAATAA	0.348													G	22463404	A	G	22463404	2	3	27	1	0	0	0	0	0	0	0	1	6639	388	14	3		3	GPR125	4	22463404	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1729049	22463404	168690872	2233	26184											
GBA3	57733	broad.mit.edu	37	chr4	22737695	22737695	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagaaccagactggcgaTgtagcttgtggcagctacac	11	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:22737695T>C	uc003gqp.3	+	2	241	c.150T>C	c.(148-150)GAT>GAC	p.D50D	GBA3_uc010iep.2_Silent_p.D50D|GBA3_uc011bxo.1_Silent_p.D51D	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	50					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0						AGACTGGCGATGTAGCTTGTG	0.478													C	22737695	T	C	22737695	2	2	27	1	0	0	0	0	0	0	0	1	6268	1461	51	3		3	GBA3	4	22737695	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	274291	22737695	168416581	2234	26185											
DHX15	1665	broad.mit.edu	37	chr4	24550530	24550530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtggaggctcaaaaatgCgttgctgctgctgaggtgga	17	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:24550530C>T	uc003gqx.2	-	6	1364	c.1196G>A	c.(1195-1197)CGC>CAC	p.R399H		NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	399	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)				CTCAAAAATGCGTTGCTGCTG	0.363													T	24550530	C	T	24550530	3	4	27	1	0	0	0	0	1	0	0	0	4501	768	27	1	1227	1	DHX15	4	24550530	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1812835	24550530	166603746	2235	26186											
DHX15	1665	broad.mit.edu	37	chr4	24556472	24556472	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggagtatagaagatctcaAcaggatgtgtacgcccagga	12	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:24556472A>G	uc003gqx.2	-	5	1124	c.956T>C	c.(955-957)GTT>GCT	p.V319A		NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	319					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)				GAAGATCTCAACAGGATGTGT	0.403													G	24556472	A	G	24556472	3	3	27	1	0	0	0	0	1	0	0	0	4501	43	2	3	1471	3	DHX15	4	24556472	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	5942	24556472	166597804	2236	26187											
SEPSECS	51091	broad.mit.edu	37	chr4	25146678	25146678	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatcattaaagccagcaatTatagcaccacctactggaac	6	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:25146678T>C	uc003grg.2	-	7	1095	c.882A>G	c.(880-882)ATA>ATG	p.I294M	SEPSECS_uc003gri.2_Missense_Mutation_p.I293M|SEPSECS_uc003grh.2_Missense_Mutation_p.I215M	NM_153825	NP_722547	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine)	294					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding				0		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	AGCCAGCAATTATAGCACCAC	0.343													C	25146678	T	C	25146678	3	2	27	1	0	0	0	0	1	0	0	0	14058	1744	61	3	643	3	SEPSECS	4	25146678	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	590206	25146678	166007598	2237	26188											
TBC1D19	55296	broad.mit.edu	37	chr4	26638843	26638843	+	Frame_Shift_Del	DEL	A	A	-													tatgtttcagggaagttgggAaaaaagaattttgaagagtt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:26638842_26638842GA>G	uc003gsf.4	+	4	574	c.304_304GA>G	c.(304-306)gaafs	p.E102fs	TBC1D19_uc010iew.3_Frame_Shift_Del_p.E102fs|TBC1D19_uc011bxu.2_Frame_Shift_Del_p.E37fs	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	Homo sapiens TBC1 domain family, member 19 (TBC1D19), mRNA.	102						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				GGGAAGTTGGGAAAAAAGAAT	0.264													-	26638843	A	-	26638843	7	5	27	1	0	1	0	1	0	0	0	0	15604	246	9	0	323	0	TBC1D19	4	26638843	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	1492165	26638843	164515433	2238	26189											
STIM2	57620	broad.mit.edu	37	chr4	27010471	27010471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatctgtggctttcagataGcccataactcaggactcccc	8	13	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:27010471G>A	uc003gsh.3	+	11	1837	c.1621G>A	c.(1621-1623)GCC>ACC	p.A541T	STIM2_uc003gsg.3_Missense_Mutation_p.A533T|STIM2_uc010iex.2_Missense_Mutation_p.A533T|STIM2_uc010iey.2_Missense_Mutation_p.A157T	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	446	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			central_nervous_system(1)|skin(1)	2		Breast(46;0.0503)				CTTTCAGATAGCCCATAACTC	0.478													A	27010471	G	A	27010471	3	1	27	1	0	0	0	0	1	0	0	0	15283	971	34	2	1402	2	STIM2	4	27010471	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	371628	27010471	164143805	2239	26190											
PCDH7	5099	broad.mit.edu	37	chr4	30725086	30725086	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcctgtacatagaggagaAcaataacattttttctattg	8	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:30725086A>G	uc003gsk.1	+	1	3050	c.2042A>G	c.(2041-2043)AAC>AGC	p.N681S	PCDH7_uc011bxw.1_Missense_Mutation_p.N634S|PCDH7_uc011bxx.1_Missense_Mutation_p.N681S	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	681	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						ATAGAGGAGAACAATAACATT	0.468													G	30725086	A	G	30725086	3	3	27	1	0	0	0	0	1	0	0	0	11516	43	2	3	2044	3	PCDH7	4	30725086	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3714615	30725086	160429190	2240	26191											
ARAP2	116984	broad.mit.edu	37	chr4	36109300	36109300	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctccagtacattttccttgTagtgaagaggacgctctgta	10	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:36109300T>C	uc003gsq.1	-	27	4510	c.4172A>G	c.(4171-4173)TAC>TGC	p.Y1391C		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1391	Ras-associating.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						ATTTTCCTTGTAGTGAAGAGG	0.343													C	36109300	T	C	36109300	3	2	27	1	0	0	0	0	1	0	0	0	839	1638	57	3	970	3	ARAP2	4	36109300	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	5384214	36109300	155044976	2241	26192											
ARAP2	116984	broad.mit.edu	37	chr4	36149198	36149198	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtcttcttaagtgcatTctatctccctgaacttcttg	6	11	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:36149198T>A	uc003gsq.1	-	18	3509	c.3171A>T	c.(3169-3171)AGA>AGT	p.R1057S		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1057	PH 4.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TTAAGTGCATTCTATCTCCCT	0.398													A	36149198	T	A	36149198	3	1	27	1	0	0	0	0	1	0	0	0	839	1780	62	5	2007	5	ARAP2	4	36149198	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	39898	36149198	155005078	2242	26193											
ARAP2	116984	broad.mit.edu	37	chr4	36161111	36161111	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagaacatccggtttcactAcagcagcacatagagcctgg	9	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:36161111A>G	uc003gsq.1	-	14	2797	c.2459T>C	c.(2458-2460)GTA>GCA	p.V820A		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	820					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						CGGTTTCACTACAGCAGCACA	0.408													G	36161111	A	G	36161111	3	3	27	1	0	0	0	0	1	0	0	0	839	391	14	3	2735	3	ARAP2	4	36161111	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	11913	36161111	154993165	2243	26194											
TBC1D1	23216	broad.mit.edu	37	chr4	38138948	38138948	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacgcagcccgagcccacgGgcgactgacagctctgcagg	14	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:38138948G>T	uc003gtb.2	+	20	3842	c.3499G>T	c.(3499-3501)GGC>TGC	p.G1167C	TBC1D1_uc011byd.1_Missense_Mutation_p.G1158C|TBC1D1_uc010ifd.2_Missense_Mutation_p.G954C|TBC1D1_uc003gtd.2_Missense_Mutation_p.G179C	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	1167						nucleus	Rab GTPase activator activity			ovary(1)	1						CGAGCCCACGGGCGACTGACA	0.662													T	38138948	G	T	38138948	3	4	27	1	0	0	0	0	1	0	0	0	15594	1232	43	5	3573	5	TBC1D1	4	38138948	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1977837	38138948	153015328	2244	26195											
KLF3	51274	broad.mit.edu	37	chr4	38691476	38691477	+	Frame_Shift_Ins	INS	-	-	C													cccttaatgaactcagtgtcINSccccccgcaagcattgttgc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:38691475_38691476T>TC	uc003gth.4	+	3	1002_1003	c.670_671T>TC	c.(670-672)tccfs	p.S224fs	KLF3_uc003gtg.2_Frame_Shift_Ins_p.S224fs	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	224	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GAACTCAGTGTCCCCCCCGCAA	0.426													C	38691477	-	C	38691476	7	5	27	1	0	1	1	0	0	0	0	0	8347	855	30	0	681	0	KLF3	4	38691476	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	552528	38691476	152462800	2245	26196											
TLR10	81793	broad.mit.edu	37	chr4	38776589	38776589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagtcttgattccatcaCgcaaaagaacccagaaattt	6	9	2	4	rs147715812		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:38776589C>T	uc003gti.2	-	2	1002	c.623G>A	c.(622-624)CGT>CAT	p.R208H	TLR10_uc003gtj.2_Missense_Mutation_p.R208H|TLR10_uc003gtk.2_Missense_Mutation_p.R208H	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	208	Extracellular (Potential).				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2						GATTCCATCACGCAAAAGAAC	0.333													T	38776589	C	T	38776589	3	4	27	1	0	0	0	0	1	0	0	0	15947	536	19	1	1816	1	TLR10	4	38776589	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	85113	38776589	152377687	2246	26197											
TLR1	7096	broad.mit.edu	37	chr4	38798650	38798650	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggcagatccaagtagctGcagagggaggtcacagtcac	14	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:38798650G>A	uc003gtl.2	-	4	2077	c.1803C>T	c.(1801-1803)TGC>TGT	p.C601C		NM_003263	NP_003254	Q15399	TLR1_HUMAN	toll-like receptor 1 precursor	601	Helical; (Potential).				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			lung(2)|skin(2)|prostate(1)	5						CCAAGTAGCTGCAGAGGGAGG	0.527													A	38798650	G	A	38798650	2	1	27	1	0	0	0	0	0	0	0	1	15946	1311	46	2		2	TLR1	4	38798650	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	22061	38798650	152355626	2247	26198											
TLR1	7096	broad.mit.edu	37	chr4	38798749	38798749	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattcagacatgtgaaagtcCtttagtagggttcctctata	8	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:38798749C>A	uc003gtl.2	-	4	1978	c.1704G>T	c.(1702-1704)AAG>AAT	p.K568N		NM_003263	NP_003254	Q15399	TLR1_HUMAN	toll-like receptor 1 precursor	568	Extracellular (Potential).|LRRCT.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			lung(2)|skin(2)|prostate(1)	5						TGTGAAAGTCCTTTAGTAGGG	0.448													A	38798749	C	A	38798749	3	1	27	1	0	0	0	0	1	0	0	0	15946	680	24	5	660	5	TLR1	4	38798749	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	99	38798749	152355527	2248	26199											
TLR6	10333	broad.mit.edu	37	chr4	38830867	38830867	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctcaaaactgtcaactcTgatagaaagctcatgtcaga	7	9	5	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:38830867T>C	uc003gtm.2	-	1	294	c.228A>G	c.(226-228)TCA>TCG	p.S76S	TLR6_uc010ifg.1_Silent_p.S76S	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6 precursor	76	Extracellular (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			ovary(2)	2						CTGTCAACTCTGATAGAAAGC	0.368													C	38830867	T	C	38830867	2	2	27	1	0	0	0	0	0	0	0	1	15952	1567	55	3		3	TLR6	4	38830867	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	32118	38830867	152323409	2249	26200											
KLHL5	51088	broad.mit.edu	37	chr4	39064525	39064525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcaccttcttggccaatgGcatccacctctgaagtccct	6	15	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:39064525G>A	uc003gts.2	+	1	466	c.391G>A	c.(391-393)GCA>ACA	p.A131T	KLHL5_uc003gtp.2_Missense_Mutation_p.A85T|KLHL5_uc003gtq.2_Intron|KLHL5_uc003gtr.1_Missense_Mutation_p.A131T|KLHL5_uc003gtt.2_Missense_Mutation_p.A131T	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	kelch-like 5 isoform 1	131						cytoplasm|cytoskeleton	actin binding			ovary(1)	1						TTGGCCAATGGCATCCACCTC	0.458													A	39064525	G	A	39064525	3	1	27	1	0	0	0	0	1	0	0	0	8392	1203	42	2	393	2	KLHL5	4	39064525	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	233658	39064525	152089751	2250	26201											
KLHL5	51088	broad.mit.edu	37	chr4	39083781	39083781	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctcacaattatactatggTatgtattttttgaaggtgag	10	4	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:39083781T>C	uc003gts.2	+	4	1113	c.1038_splice	c.e4+2	p.M346_splice	KLHL5_uc003gtp.2_Splice_Site_p.M300_splice|KLHL5_uc003gtq.2_Splice_Site_p.M159_splice|KLHL5_uc003gtr.1_Splice_Site_p.M346_splice|KLHL5_uc003gtt.2_Splice_Site_p.M285_splice	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	kelch-like 5 isoform 1							cytoplasm|cytoskeleton	actin binding			ovary(1)	1						TATACTATGGTATGTATTTTT	0.398													C	39083781	T	C	39083781	5	2	27	1	0	0	0	0	0	0	1	0	8392	1652	57	3	1054	3	KLHL5	4	39083781	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	19256	39083781	152070495	2251	26202											
RFC1	5981	broad.mit.edu	37	chr4	39297264	39297264	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgcaaggccaggtcctgaAcaatacgatcatgtttgcct	9	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:39297264A>G	uc003gty.1	-	22	3061	c.2927T>C	c.(2926-2928)GTT>GCT	p.V976A	RFC1_uc003gtx.1_Missense_Mutation_p.V975A	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	976					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4						CAGGTCCTGAACAATACGATC	0.478													G	39297264	A	G	39297264	3	3	27	1	0	0	0	0	1	0	0	0	13244	43	2	3	535	3	RFC1	4	39297264	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	213483	39297264	151857012	2252	26203											
LIAS	11019	broad.mit.edu	37	chr4	39462464	39462465	+	Frame_Shift_Ins	INS	-	-	A													gttaagctccttgccagataINSaaaaaaaggaactcctacag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:39462463_39462464T>TA	uc003guf.3	+	1	172_173	c.99_100T>TA	c.(97-102)gataaafs	p.D33fs	RPL9_uc003gub.3_5'Flank|RPL9_uc003guc.3_5'Flank|RPL9_uc011byk.2_5'Flank|RPL9_uc011byl.1_5'Flank|RPL9_uc003gud.1_5'Flank|LIAS_uc003gue.4_Frame_Shift_Ins_p.D33fs|LIAS_uc011bym.2_Frame_Shift_Ins_p.D33fs|LIAS_uc003gug.3_Frame_Shift_Ins_p.D33fs	NM_006859	NP_006850	O43766	LIAS_HUMAN	Homo sapiens lipoic acid synthetase (LIAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	33					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	p.K36fs*31(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	CCTTGCCAGATAAAAAAAAGGA	0.391													A	39462465	-	A	39462464	7	5	27	1	0	1	1	0	0	0	0	0	8778	363	13	0	106	0	LIAS	4	39462464	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	165200	39462464	151691812	2253	26204											
PDS5A	23244	broad.mit.edu	37	chr4	39843614	39843614	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacaggtgtgactgaaataAtcctcacagggttctcttca	8	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:39843614A>C	uc003guv.3	-	31	4151	c.3611T>G	c.(3610-3612)ATT>AGT	p.I1204S	PDS5A_uc010ifo.2_Missense_Mutation_p.I1164S	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1204					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						GACTGAAATAATCCTCACAGG	0.328													C	39843614	A	C	39843614	3	2	27	1	0	0	0	0	1	0	0	0	11691	101	4	5	414	5	PDS5A	4	39843614	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	381150	39843614	151310662	2254	26205											
PDS5A	23244	broad.mit.edu	37	chr4	39863914	39863914	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggctagcaggtgaatcatgTatggaactacatattcaggc	12	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:39863914T>C	uc003guv.3	-	26	3551	c.3011A>G	c.(3010-3012)TAC>TGC	p.Y1004C	PDS5A_uc010ifo.2_Missense_Mutation_p.Y964C	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1004					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						GTGAATCATGTATGGAACTAC	0.333													C	39863914	T	C	39863914	3	2	27	1	0	0	0	0	1	0	0	0	11691	1638	57	3	1034	3	PDS5A	4	39863914	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	20300	39863914	151290362	2255	26206											
N4BP2	55728	broad.mit.edu	37	chr4	40123127	40123127	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttggattctgaaactaagttAtgtgaggatacagagtttga	11	3	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:40123127A>T	uc003guy.3	+	9	3734	c.3396A>T	c.(3394-3396)TTA>TTT	p.L1132F	N4BP2_uc010ifq.2_Missense_Mutation_p.L1052F|N4BP2_uc010ifr.2_Missense_Mutation_p.L1052F	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	1132						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						AAACTAAGTTATGTGAGGATA	0.358													T	40123127	A	T	40123127	3	4	27	1	0	0	0	0	1	0	0	0	10110	446	16	5	3422	5	N4BP2	4	40123127	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	259213	40123127	151031149	2256	26207											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434713	+	In_Frame_Del	DEL	GCGGCTGCG	GCGGCTGCG	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs139347188		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:40434704_40434712AGCGGCTGCG>A	uc003gvc.2	-	5	2208_2216	c.1498_1506CGCAGCCGCT>T	c.(1498-1506)gcagccgct>T	p.AAA500del	RBM47_uc003gvd.2_In_Frame_Del_p.AAA431del|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_In_Frame_Del_p.AAA462del	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	500	Ala-rich.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TGGGAATGACAgcggctgcggcggctgcg	0.565													-	40434713	GCGGCTGCG	-	40434705	7	5	27	1	0	1	0	1	0	0	0	0	13141	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCG	TCGA-BR-6452-01A-12D-1800-08	311578	40434705	150719571	2257	26208											
NSUN7	79730	broad.mit.edu	37	chr4	40776855	40776855	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atctgtattgcatattgatgAtaaagtctttgctgtggatc	9	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:40776855A>T	uc003gvj.3	+	6	1208	c.713A>T	c.(712-714)GAT>GTT	p.D238V	NSUN7_uc003gvh.2_Missense_Mutation_p.D238V|NSUN7_uc003gvi.3_Missense_Mutation_p.D238V	NM_024677	NP_078953			NOL1/NOP2/Sun domain family, member 7												0						CATATTGATGATAAAGTCTTT	0.269													T	40776855	A	T	40776855	3	4	27	1	0	0	0	0	1	0	0	0	10683	333	12	5	731	5	NSUN7	4	40776855	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	342150	40776855	150377421	2258	26209											
APBB2	323	broad.mit.edu	37	chr4	41016219	41016219	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggccgcctggatgttagtTagtgcatattttttcctgca	10	8	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:41016219T>C	uc003gvl.2	-	6	846	c.216A>G	c.(214-216)CTA>CTG	p.L72L	APBB2_uc003gvm.2_Silent_p.L72L|APBB2_uc003gvn.2_Silent_p.L72L|APBB2_uc011byt.1_Silent_p.L55L	NM_173075	NP_775098	Q92870	APBB2_HUMAN	amyloid beta A4 precursor protein-binding,	72					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			ovary(2)|large_intestine(1)	3						GGATGTTAGTTAGTGCATATT	0.498													C	41016219	T	C	41016219	2	2	27	1	0	0	0	0	0	0	0	1	761	1741	61	3		3	APBB2	4	41016219	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	239364	41016219	150138057	2259	26210											
TMEM33	55161	broad.mit.edu	37	chr4	41951356	41951356	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaaccttttatatactatAgatttcttacccttcgatat	2	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:41951356A>G	uc003gwi.2	+	6	933	c.568A>G	c.(568-570)AGA>GGA	p.R190G	TMEM33_uc010ifw.2_RNA	NM_018126	NP_060596	P57088	TMM33_HUMAN	transmembrane protein 33	190						integral to membrane|melanosome	protein binding			ovary(1)	1						TATATACTATAGATTTCTTAC	0.318													G	41951356	A	G	41951356	3	3	27	1	0	0	0	0	1	0	0	0	16153	412	15	3	590	3	TMEM33	4	41951356	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	935137	41951356	149202920	2260	26211											
TMEM33	55161	broad.mit.edu	37	chr4	41951372	41951372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctatagatttcttacccttcGatattcgtctcgaagaaacc	5	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:41951372G>A	uc003gwi.2	+	6	949	c.584G>A	c.(583-585)CGA>CAA	p.R195Q	TMEM33_uc010ifw.2_RNA	NM_018126	NP_060596	P57088	TMM33_HUMAN	transmembrane protein 33	195						integral to membrane|melanosome	protein binding			ovary(1)	1						CTTACCCTTCGATATTCGTCT	0.318													A	41951372	G	A	41951372	3	1	27	1	0	0	0	0	1	0	0	0	16153	1058	37	1	606	1	TMEM33	4	41951372	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	16	41951372	149202904	2261	26212											
SLC30A9	10463	broad.mit.edu	37	chr4	42065102	42065102	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggtaccatggagtcatgggAttgcttcatcctcaaccaat	9	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:42065102A>T	uc003gwl.2	+	11	1142	c.996A>T	c.(994-996)GGA>GGT	p.G332G	SLC30A9_uc011byx.1_Silent_p.G92G	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter),	332	Helical; (Potential).				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3						GAGTCATGGGATTGCTTCATC	0.393													T	42065102	A	T	42065102	2	4	27	1	0	0	0	0	0	0	0	1	14562	320	12	5		5	SLC30A9	4	42065102	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	113730	42065102	149089174	2262	26213											
SLC30A9	10463	broad.mit.edu	37	chr4	42069122	42069122	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatggaaagtcgtgatcctAgtacaaatgtgatattattg	9	4	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:42069122A>G	uc003gwl.2	+	14	1311	c.1165A>G	c.(1165-1167)AGT>GGT	p.S389G	SLC30A9_uc011byx.1_Missense_Mutation_p.S149G	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter),	389					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3						TCGTGATCCTAGTACAAATGT	0.348													G	42069122	A	G	42069122	3	3	27	1	0	0	0	0	1	0	0	0	14562	420	15	3	1219	3	SLC30A9	4	42069122	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4020	42069122	149085154	2263	26214											
ATP8A1	10396	broad.mit.edu	37	chr4	42416673	42416673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgttgcaaggattcagagCggtacaagttcacgtggttc	12	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:42416673C>T	uc003gwr.2	-	36	3600	c.3368G>A	c.(3367-3369)CGC>CAC	p.R1123H	ATP8A1_uc003gwq.2_Missense_Mutation_p.R349H|ATP8A1_uc003gws.2_Missense_Mutation_p.R1108H	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	1123	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)	GGATTCAGAGCGGTACAAGTT	0.403													T	42416673	C	T	42416673	3	4	27	1	0	0	0	0	1	0	0	0	1192	768	27	1	134	1	ATP8A1	4	42416673	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	347551	42416673	148737603	2264	26215											
ATP8A1	10396	broad.mit.edu	37	chr4	42467001	42467001	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgtctgtatcatgctgAcatcatttgctccatcaccg	8	13	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:42467001A>T	uc003gwr.2	-	26	2649	c.2417T>A	c.(2416-2418)GTC>GAC	p.V806D	ATP8A1_uc003gwq.2_Missense_Mutation_p.V32D|ATP8A1_uc003gws.2_Missense_Mutation_p.V791D	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	806	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)	TATCATGCTGACATCATTTGC	0.448													T	42467001	A	T	42467001	3	4	27	1	0	0	0	0	1	0	0	0	1192	275	10	5	1125	5	ATP8A1	4	42467001	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	50328	42467001	148687275	2265	26216											
ATP8A1	10396	broad.mit.edu	37	chr4	42588453	42588453	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgccagaaatcctcatcAaactgtcaacgtctttgata	5	11	5	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:42588453A>G	uc003gwr.2	-	9	867	c.635T>C	c.(634-636)TTG>TCG	p.L212S	ATP8A1_uc003gws.2_Missense_Mutation_p.L212S|ATP8A1_uc011byz.1_Missense_Mutation_p.L212S	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	212	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)	AATCCTCATCAAACTGTCAAC	0.363													G	42588453	A	G	42588453	3	3	27	1	0	0	0	0	1	0	0	0	1192	131	5	3	2975	3	ATP8A1	4	42588453	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	121452	42588453	148565823	2266	26217											
GRXCR1	389207	broad.mit.edu	37	chr4	42895339	42895339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacggaaagtccggtttcGgatcgcgtcctctcacagtg	12	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:42895339G>A	uc003gwt.2	+	1	56	c.56G>A	c.(55-57)CGG>CAG	p.R19Q		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	19					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1						GTCCGGTTTCGGATCGCGTCC	0.512													A	42895339	G	A	42895339	3	1	27	1	0	0	0	0	1	0	0	0	6812	1116	39	1	58	1	GRXCR1	4	42895339	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	306886	42895339	148258937	2267	26218											
GRXCR1	389207	broad.mit.edu	37	chr4	42964999	42964999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgaaagatgtgaactgGttagaaagattttccaaaac	8	6	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:42964999G>A	uc003gwt.2	+	2	475	c.475G>A	c.(475-477)GTT>ATT	p.V159I		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	159	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1						ATGTGAACTGGTTAGAAAGAT	0.418													A	42964999	G	A	42964999	3	1	27	1	0	0	0	0	1	0	0	0	6812	1261	44	4	481	4	GRXCR1	4	42964999	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	69660	42964999	148189277	2268	26219											
KCTD8	386617	broad.mit.edu	37	chr4	44450344	44450344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggccaaagtactgtccGggacgctgagcagcgtcgag	15	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:44450344G>A	uc003gwu.2	-	1	481	c.197C>T	c.(196-198)CCG>CTG	p.P66L		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	66	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						AGTACTGTCCGGGACGCTGAG	0.517										HNSCC(17;0.042)			A	44450344	G	A	44450344	3	1	27	1	0	0	0	0	1	0	0	0	8115	1116	39	1	1232	1	KCTD8	4	44450344	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1485345	44450344	146703932	2269	26220											
GUF1	60558	broad.mit.edu	37	chr4	44692771	44692771	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aattacaattatcaatcctgCacaattccccgataaatcaa	2	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:44692771C>G	uc003gww.3	+	12	1580	c.1373C>G	c.(1372-1374)GCA>GGA	p.A458G		NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog	458					translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1						ATCAATCCTGCACAATTCCCC	0.284													G	44692771	C	G	44692771	3	3	27	1	0	0	0	0	1	0	0	0	6899	710	25	5	1419	5	GUF1	4	44692771	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	242427	44692771	146461505	2270	26221											
GNPDA2	132789	broad.mit.edu	37	chr4	44719210	44719211	+	Frame_Shift_Ins	INS	-	-	T													tgcttgtaaatctgcagcatINStcccgtcaaggatatgtgca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:44719209_44719210A>AT	uc003gwy.3	-	3	486_487	c.329_330T>AT	c.(328-330)aatfs	p.N110fs	GNPDA2_uc010iga.3_Frame_Shift_Ins_p.N76fs|GNPDA2_uc011bzb.2_Frame_Shift_Ins_p.N40fs|GNPDA2_uc003gwz.1_Frame_Shift_Ins_p.N110fs	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN	Homo sapiens glucosamine-6-phosphate deaminase 2 (GNPDA2), mRNA.	110					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	p.G109W(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						AATCTGCAGCATTCCCGTCAAG	0.332													T	44719211	-	T	44719210	7	5	27	1	0	1	1	0	0	0	0	0	6543	1493	52	0	517	0	GNPDA2	4	44719210	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	26439	44719210	146435066	2271	26222											
GABRA2	2555	broad.mit.edu	37	chr4	46252449	46252449	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caattttgctaacactgttgAaagttttctttgcttcagct	6	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:46252449A>G	uc003gxc.3	-	9	1905	c.1232T>C	c.(1231-1233)TTC>TCC	p.F411S	GABRA2_uc010igc.2_Missense_Mutation_p.F411S|GABRA2_uc011bzc.1_Missense_Mutation_p.F416S	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	411	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AACACTGTTGAAAGTTTTCTT	0.388													G	46252449	A	G	46252449	3	3	27	1	0	0	0	0	1	0	0	0	6161	246	9	3	127	3	GABRA2	4	46252449	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1533239	46252449	144901827	2272	26223											
GABRA2	2555	broad.mit.edu	37	chr4	46305564	46305564	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgatgcaaggcagataggTttgaatcacaaaatacccaa	8	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:46305564T>G	uc003gxc.3	-	7	1442	c.769A>C	c.(769-771)ACC>CCC	p.T257P	GABRA2_uc010igc.2_Missense_Mutation_p.T257P|GABRA2_uc011bzc.1_Missense_Mutation_p.T202P|GABRA2_uc003gxe.2_Missense_Mutation_p.T257P	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	257	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGCAGATAGGTTTGAATCACA	0.373													G	46305564	T	G	46305564	3	3	27	1	0	0	0	0	1	0	0	0	6161	1725	60	5	598	5	GABRA2	4	46305564	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	53115	46305564	144848712	2273	26224											
GABRA2	2555	broad.mit.edu	37	chr4	46334631	46334631	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actatttaatgaaaaactcaCcatatctgtatctgagacag	5	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:46334631C>T	uc003gxc.3	-	3	928	c.255_splice	c.e3+1	p.M85_splice	GABRA2_uc010igc.2_Splice_Site_p.M85_splice|GABRA2_uc011bzc.1_Intron|GABRA2_uc003gxe.2_Splice_Site_p.M85_splice	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2						gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAAAAACTCACCATATCTGTA	0.313													T	46334631	C	T	46334631	5	4	27	1	0	0	0	0	0	0	1	0	6161	521	18	4	1127	4	GABRA2	4	46334631	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	29067	46334631	144819645	2274	26225											
GABRA4	2557	broad.mit.edu	37	chr4	46930514	46930514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaactgaagcctttcgagGcatatatccagttcggatag	9	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:46930514G>A	uc003gxg.2	-	9	1532	c.1393C>T	c.(1393-1395)CCT>TCT	p.P465S		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	465	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCCTTTCGAGGCATATATCCA	0.473													A	46930514	G	A	46930514	3	1	27	1	0	0	0	0	1	0	0	0	6163	1203	42	2	275	2	GABRA4	4	46930514	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	595883	46930514	144223762	2275	26226											
GABRA4	2557	broad.mit.edu	37	chr4	46930536	46930536	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatatccagttcggatagaAgtaggagaagcagatggaag	13	4	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:46930536A>C	uc003gxg.2	-	9	1510	c.1371T>G	c.(1369-1371)ACT>ACG	p.T457T		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	457	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCGGATAGAAGTAGGAGAAG	0.473													C	46930536	A	C	46930536	2	2	27	1	0	0	0	0	0	0	0	1	6163	59	3	5		5	GABRA4	4	46930536	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	22	46930536	144223740	2276	26227											
GABRA4	2557	broad.mit.edu	37	chr4	46995427	46995427	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agagcgatcgcgggtaccttCttggcagaaaccatctttgc	11	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:46995427C>A	uc003gxg.2	-	1	154	c.15G>T	c.(13-15)AAG>AAT	p.K5N		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	5					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CGGGTACCTTCTTGGCAGAAA	0.602													A	46995427	C	A	46995427	3	1	27	1	0	0	0	0	1	0	0	0	6163	912	32	5	1685	5	GABRA4	4	46995427	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	64891	46995427	144158849	2277	26228											
GABRB1	2560	broad.mit.edu	37	chr4	47427976	47427976	+	Frame_Shift_Del	DEL	T	T	-													tagacaagtggtcccgaatgTttttccccatcaccttttct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:47427975_47427975GT>G	uc003gxh.3	+	8	1739	c.1365_1365GT>G	c.(1363-1365)atgfs	p.M455fs	GABRB1_uc011bze.2_Frame_Shift_Del_p.M385fs	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	455					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGTCCCGAATGTTTTTCCCCA	0.473													-	47427976	T	-	47427976	7	5	27	1	0	1	0	1	0	0	0	0	6166	1725	60	0	1400	0	GABRB1	4	47427976	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	432549	47427976	143726300	2278	26229											
ATP10D	57205	broad.mit.edu	37	chr4	47571042	47571042	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaagaaagtctgcaaaaGcagttcctggaactgacatc	9	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:47571042G>T	uc003gxk.1	+	16	3206	c.3042G>T	c.(3040-3042)AAG>AAT	p.K1014N	ATP10D_uc003gxl.1_Missense_Mutation_p.K262N	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1014	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						GTCTGCAAAAGCAGTTCCTGG	0.537													T	47571042	G	T	47571042	3	4	27	1	0	0	0	0	1	0	0	0	1118	962	34	5	3100	5	ATP10D	4	47571042	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	143066	47571042	143583234	2279	26230											
CORIN	10699	broad.mit.edu	37	chr4	47663845	47663845	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcccaagaacagactcacAgcgttctttagagtgttcac	7	11	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:47663845A>G	uc003gxm.2	-	12	1711	c.1618T>C	c.(1618-1620)TGT>CGT	p.C540R	CORIN_uc011bzf.1_Missense_Mutation_p.C401R|CORIN_uc011bzg.1_Missense_Mutation_p.C473R|CORIN_uc011bzh.1_Missense_Mutation_p.C503R|CORIN_uc011bzi.1_Missense_Mutation_p.C503R	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	540	Extracellular (Potential).|FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2						ACAGACTCACAGCGTTCTTTA	0.423													G	47663845	A	G	47663845	3	3	27	1	0	0	0	0	1	0	0	0	3752	188	7	3	1554	3	CORIN	4	47663845	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	92803	47663845	143490431	2280	26231											
CORIN	10699	broad.mit.edu	37	chr4	47695094	47695094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagttctcaccccttccaCagagcactaaaaaaaaaggg	7	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:47695094C>T	uc003gxm.2	-	6	899	c.806G>A	c.(805-807)TGT>TAT	p.C269Y	CORIN_uc011bzf.1_Missense_Mutation_p.C130Y|CORIN_uc011bzg.1_Missense_Mutation_p.C202Y|CORIN_uc011bzh.1_Missense_Mutation_p.C269Y|CORIN_uc011bzi.1_Missense_Mutation_p.C269Y|CORIN_uc003gxn.3_Missense_Mutation_p.C269Y	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	269	Extracellular (Potential).|LDL-receptor class A 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2						ACCCCTTCCACAGAGCACTAA	0.398													T	47695094	C	T	47695094	3	4	27	1	0	0	0	0	1	0	0	0	3752	478	17	4	2390	4	CORIN	4	47695094	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	31249	47695094	143459182	2281	26232											
CNGA1	1259	broad.mit.edu	37	chr4	47939081	47939081	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaatcagcaaaaatgcgtAccttttttaatgtgtctaag	6	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:47939081A>G	uc003gxt.3	-	11	1696	c.1430T>C	c.(1429-1431)GTA>GCA	p.V477A	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.V546A	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	477	Extracellular (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2						AAAAATGCGTACCTTTTTTAA	0.378													G	47939081	A	G	47939081	3	3	27	1	0	0	0	0	1	0	0	0	3596	391	14	3	646	3	CNGA1	4	47939081	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	243987	47939081	143215195	2282	26233											
CNGA1	1259	broad.mit.edu	37	chr4	47939244	47939244	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctttgcttacatttcgaaAatgcatatattgcttgatag	6	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:47939244A>G	uc003gxt.3	-	11	1533	c.1267T>C	c.(1267-1269)TTT>CTT	p.F423L	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.F492L	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	423	Extracellular (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2						ACATTTCGAAAATGCATATAT	0.353													G	47939244	A	G	47939244	3	3	27	1	0	0	0	0	1	0	0	0	3596	14	1	3	809	3	CNGA1	4	47939244	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	163	47939244	143215032	2283	26234											
CNGA1	1259	broad.mit.edu	37	chr4	47939482	47939482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtattttctagccaaacgGccaaattcaggatcattaat	6	9	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:47939482G>A	uc003gxt.3	-	11	1295	c.1029C>T	c.(1027-1029)GGC>GGT	p.G343G	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Silent_p.G412G	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	343	Cytoplasmic (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2						TAGCCAAACGGCCAAATTCAG	0.413													A	47939482	G	A	47939482	2	1	27	1	0	0	0	0	0	0	0	1	3596	1190	42	2		2	CNGA1	4	47939482	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	238	47939482	143214794	2284	26235											
TEC	7006	broad.mit.edu	37	chr4	48147163	48147163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacacatcctgacacatgCtcagcagtacgtctctactg	6	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:48147163C>T	uc003gxz.2	-	14	1494	c.1403G>A	c.(1402-1404)AGC>AAC	p.S468N		NM_003215	NP_003206	P42680	TEC_HUMAN	tec protein tyrosine kinase	468	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						CTGACACATGCTCAGCAGTAC	0.468													T	48147163	C	T	48147163	3	4	27	1	0	0	0	0	1	0	0	0	15739	797	28	2	512	2	TEC	4	48147163	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	207681	48147163	143007113	2285	26236											
FRYL	285527	broad.mit.edu	37	chr4	48542963	48542963	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgtttcccattataggaTcatgatatgaggttcttaaa	7	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:48542963T>C	uc003gyh.1	-	46	6307	c.5702A>G	c.(5701-5703)GAT>GGT	p.D1901G	FRYL_uc003gyg.1_Missense_Mutation_p.D597G|FRYL_uc003gyi.1_Missense_Mutation_p.D789G|FRYL_uc003gyj.1_Missense_Mutation_p.D196G	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1901					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						CATTATAGGATCATGATATGA	0.328													C	48542963	T	C	48542963	3	2	27	1	0	0	0	0	1	0	0	0	6064	1435	50	3	3415	3	FRYL	4	48542963	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	395800	48542963	142611313	2286	26237											
FRYL	285527	broad.mit.edu	37	chr4	48566115	48566115	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcacagcccagctggTgaacctaggtaaaggttgtg	12	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:48566115T>C	uc003gyh.1	-	31	4051	c.3446A>G	c.(3445-3447)CAC>CGC	p.H1149R	FRYL_uc003gyk.2_Missense_Mutation_p.H1149R|FRYL_uc003gyi.1_Missense_Mutation_p.H38R	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1149					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						GCCCAGCTGGTGAACCTAGGT	0.453													C	48566115	T	C	48566115	3	2	27	1	0	0	0	0	1	0	0	0	6064	1696	59	3	5731	3	FRYL	4	48566115	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	23152	48566115	142588161	2287	26238											
FRYL	285527	broad.mit.edu	37	chr4	48584736	48584736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcacgcagttcttcatcCatatgaattgtgagcctacc	8	11	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:48584736C>T	uc003gyh.1	-	20	2369	c.1764G>A	c.(1762-1764)ATG>ATA	p.M588I	FRYL_uc003gyk.2_Missense_Mutation_p.M588I	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	588					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						GTTCTTCATCCATATGAATTG	0.353													T	48584736	C	T	48584736	3	4	27	1	0	0	0	0	1	0	0	0	6064	594	21	4	7457	4	FRYL	4	48584736	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	18621	48584736	142569540	2288	26239											
FRYL	285527	broad.mit.edu	37	chr4	48588650	48588650	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcatttaccttgctaacaatTcaatcaggtcagttctgctc	5	11	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:48588650T>A	uc003gyh.1	-	19	2341	c.1736A>T	c.(1735-1737)GAA>GTA	p.E579V	FRYL_uc003gyk.2_Missense_Mutation_p.E579V	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						TGCTAACAATTCAATCAGGTC	0.348													A	48588650	T	A	48588650	3	1	27	1	0	0	0	0	1	0	0	0	6064	1783	62	5	7489	5	FRYL	4	48588650	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3914	48588650	142565626	2289	26240											
OCIAD1	54940	broad.mit.edu	37	chr4	48859353	48859353	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactgacccctcagtcaggcCtatgcatgaaagagtgccaa	10	12	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:48859353C>A	uc003gyo.2	+	8	928	c.671C>A	c.(670-672)CCT>CAT	p.P224H	OCIAD1_uc003gyr.2_Missense_Mutation_p.P224H|OCIAD1_uc003gyp.2_Intron|OCIAD1_uc003gys.2_Intron|OCIAD1_uc003gyq.2_Intron|OCIAD1_uc010igk.2_Missense_Mutation_p.P229H	NM_017830	NP_060300	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1 isoform 1	224						endosome	protein binding				0						TCAGTCAGGCCTATGCATGAA	0.323													A	48859353	C	A	48859353	3	1	27	1	0	0	0	0	1	0	0	0	10817	681	24	5	733	5	OCIAD1	4	48859353	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	270703	48859353	142294923	2290	26241											
DCUN1D4	23142	broad.mit.edu	37	chr4	52758003	52758003	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacaggagtggttaaaaggAatgacttctctccagtaagt	10	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:52758003A>G	uc003gze.2	+	7	625	c.492A>G	c.(490-492)GGA>GGG	p.G164G	DCUN1D4_uc003gzf.2_Silent_p.G164G|DCUN1D4_uc011bzn.1_Silent_p.G104G|DCUN1D4_uc003gzg.2_RNA|DCUN1D4_uc003gzh.2_RNA|DCUN1D4_uc011bzo.1_Silent_p.G208G	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain	164	DCUN1.									ovary(2)	2			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			GGTTAAAAGGAATGACTTCTC	0.443													G	52758003	A	G	52758003	2	3	27	1	0	0	0	0	0	0	0	1	4316	233	9	3		3	DCUN1D4	4	52758003	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3898650	52758003	138396273	2291	26242											
LRRC66	339977	broad.mit.edu	37	chr4	52861789	52861789	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctatcaggaattacggtggCgtgtgggtgtggctgtgtca	16	6	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:52861789C>A	uc003gzi.2	-	4	1412	c.1399G>T	c.(1399-1401)GCC>TCC	p.A467S		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	467						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						ATTACGGTGGCGTGTGGGTGT	0.577													A	52861789	C	A	52861789	3	1	27	1	0	0	0	0	1	0	0	0	9018	768	27	5	1247	5	LRRC66	4	52861789	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	103786	52861789	138292487	2292	26243											
SPATA18	132671	broad.mit.edu	37	chr4	52945916	52945916	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgtttttcaggatgtgAtccgagccatgaatgtcaat	9	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:52945916A>C	uc003gzl.2	+	9	1464	c.1186A>C	c.(1186-1188)ATC>CTC	p.I396L	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.I364L|SPATA18_uc003gzk.1_Missense_Mutation_p.I396L	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	396					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCAGGATGTGATCCGAGCCAT	0.428													C	52945916	A	C	52945916	3	2	27	1	0	0	0	0	1	0	0	0	15002	333	12	5	1220	5	SPATA18	4	52945916	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	84127	52945916	138208360	2293	26244											
SCFD2	152579	broad.mit.edu	37	chr4	54231548	54231548	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccggtcgggcgctattAaggaggtgcacatcctgggg	16	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:54231548A>G	uc003gzu.2	-	1	695	c.561T>C	c.(559-561)CTT>CTC	p.L187L	SCFD2_uc010igm.2_Silent_p.L187L	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	187					protein transport|vesicle docking involved in exocytosis					ovary(2)|pancreas(1)	3			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGGCGCTATTAAGGAGGTGCA	0.562													G	54231548	A	G	54231548	2	3	27	1	0	0	0	0	0	0	0	1	13890	349	13	3		3	SCFD2	4	54231548	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1285632	54231548	136922728	2294	26245											
LNX1	84708	broad.mit.edu	37	chr4	54440034	54440034	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggggtccagcaaagcctGcaggcagatgtggcagatga	16	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:54440034G>A	uc003hag.3	-	2	392	c.136C>T	c.(136-138)CAG>TAG	p.Q46*	PDGFRA_uc003haa.2_Intron|LNX1_uc003hah.3_RNA	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1 isoform a	46	RING-type.					cytoplasm	zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGCAAAGCCTGCAGGCAGATG	0.572													A	54440034	G	A	54440034	4	1	27	1	0	0	0	0	0	1	0	0	8865	1328	46	2	2186	2	LNX1	4	54440034	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	208486	54440034	136714242	2295	26246											
KIT	3815	broad.mit.edu	37	chr4	55565802	55565802	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcttttcattctagccttcaAagctgtgcctgttgtgtctg	8	10	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:55565802A>T	uc010igr.2	+	4	713	c.626A>T	c.(625-627)AAA>ATA	p.K209I	KIT_uc010igs.2_Missense_Mutation_p.K209I	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	209	Extracellular (Potential).				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTAGCCTTCAAAGCTGTGCCT	0.383		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				T	55565802	A	T	55565802	3	4	27	1	0	0	0	0	1	0	0	0	8329	14	1	5	640	5	KIT	4	55565802	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1125768	55565802	135588474	2296	26247											
KIT	3815	broad.mit.edu	37	chr4	55592157	55592157	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacggttgaatgtaaggcttAcaacgatgtgggcaagactt	12	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:55592157A>G	uc010igr.2	+	9	1568	c.1481A>G	c.(1480-1482)TAC>TGC	p.Y494C	KIT_uc010igs.2_Missense_Mutation_p.Y494C|KIT_uc011bzw.1_5'Flank|KIT_uc010igt.1_5'Flank	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	494	Extracellular (Potential).|Ig-like C2-type 5.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.Y494Y(1)|p.E490_F504>DHIVVSLTF(1)		soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTAAGGCTTACAACGATGTG	0.388		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				G	55592157	A	G	55592157	3	3	27	1	0	0	0	0	1	0	0	0	8329	391	14	3	1515	3	KIT	4	55592157	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	26355	55592157	135562119	2297	26248											
KDR	3791	broad.mit.edu	37	chr4	55964961	55964961	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgatttccaagttcgtctttTcctgggcacctggaaagaca	9	10	1	2	rs151060903		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:55964961T>A	uc003has.2	-	16	2578	c.2276A>T	c.(2275-2277)GAA>GTA	p.E759V	KDR_uc003hat.1_Missense_Mutation_p.E759V	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	759	Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GTTCGTCTTTTCCTGGGCACC	0.408			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			A	55964961	T	A	55964961	3	1	27	1	0	0	0	0	1	0	0	0	8139	1783	62	5	1854	5	KDR	4	55964961	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	372804	55964961	135189315	2298	26249											
KDR	3791	broad.mit.edu	37	chr4	55972863	55972863	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaactcactttgtttttTccttcaattagagcaaattg	4	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:55972863T>C	uc003has.2	-	11	1829	c.1527A>G	c.(1525-1527)GGA>GGG	p.G509G	KDR_uc003hat.1_Silent_p.G509G|KDR_uc011bzx.1_Silent_p.G509G	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	509	Ig-like C2-type 5.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTTTGTTTTTTCCTTCAATTA	0.323			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			C	55972863	T	C	55972863	2	2	27	1	0	0	0	0	0	0	0	1	8139	1770	62	3		3	KDR	4	55972863	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	7902	55972863	135181413	2299	26250											
EXOC1	55763	broad.mit.edu	37	chr4	56730485	56730485	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatttatttcatgcatttgGaaattgaatcagcgatatct	7	6	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:56730485G>A	uc003hbe.1	+	4	506	c.348G>A	c.(346-348)TGG>TGA	p.W116*	EXOC1_uc003hbf.1_Nonsense_Mutation_p.W116*|EXOC1_uc003hbg.1_Nonsense_Mutation_p.W116*	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	116					exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)					CATGCATTTGGAAATTGAATC	0.299													A	56730485	G	A	56730485	4	1	27	1	0	0	0	0	0	1	0	0	5301	1183	41	4	358	4	EXOC1	4	56730485	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	757622	56730485	134423791	2300	26251											
PPAT	5471	broad.mit.edu	37	chr4	57269249	57269249	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaataagacgaccaatgcaTaagggacgatttccataagg	11	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:57269249T>C	uc003hbr.2	-	5	820	c.618A>G	c.(616-618)TTA>TTG	p.L206L		NM_002703	NP_002694	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	206	Glutamine amidotransferase type-2.				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	GACCAATGCATAAGGGACGAT	0.358													C	57269249	T	C	57269249	2	2	27	1	0	0	0	0	0	0	0	1	12302	1403	49	3		3	PPAT	4	57269249	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	538764	57269249	133885027	2301	26252											
ARL9	132946	broad.mit.edu	37	chr4	57384867	57384867	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagtaaaccttttcggTcctactgggaaatgtaccta	10	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:57384867T>A	uc003hby.1	+	3	488	c.40T>A	c.(40-42)TCC>ACC	p.S14T		NM_206919	NP_996802	Q6T311	ARL9_HUMAN	ADP-ribosylation factor-like 9	78							GTP binding				0	Glioma(25;0.08)|all_neural(26;0.101)					ACCTTTTCGGTCCTACTGGGA	0.483													A	57384867	T	A	57384867	3	1	27	1	0	0	0	0	1	0	0	0	948	1667	58	5	46	5	ARL9	4	57384867	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	115618	57384867	133769409	2302	26253											
POLR2B	5431	broad.mit.edu	37	chr4	57897134	57897134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgtctatgagtattgcaCcgcgaatgatgagtgtttag	11	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:57897134C>T	uc003hcl.1	+	25	3548	c.3505C>T	c.(3505-3507)CCG>TCG	p.P1169S	POLR2B_uc011cae.1_Missense_Mutation_p.P1162S|POLR2B_uc011caf.1_Missense_Mutation_p.P1094S|POLR2B_uc003hcm.1_Missense_Mutation_p.P662S	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	1169					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)					GAGTATTGCACCGCGAATGAT	0.333													T	57897134	C	T	57897134	3	4	27	1	0	0	0	0	1	0	0	0	12215	507	18	4	3603	4	POLR2B	4	57897134	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	512267	57897134	133257142	2303	26254											
EPHA5	2044	broad.mit.edu	37	chr4	66535289	66535289	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catctccctaccttcgttgcTggggctggccaggagggtcc	13	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:66535289T>G	uc003hcy.2	-	1	365	c.172A>C	c.(172-174)AGC>CGC	p.S58R	EPHA5_uc003hcx.2_5'Flank|EPHA5_uc003hcz.2_Missense_Mutation_p.S58R|EPHA5_uc011cah.1_Missense_Mutation_p.S58R|EPHA5_uc011cai.1_Missense_Mutation_p.S58R|EPHA5_uc003hda.2_Missense_Mutation_p.S58R|uc003hdb.2_5'Flank	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	58	Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						CCTTCGTTGCTGGGGCTGGCC	0.716										TSP Lung(17;0.13)			G	66535289	T	G	66535289	3	3	27	1	0	0	0	0	1	0	0	0	5170	1580	55	5	3013	5	EPHA5	4	66535289	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	8638155	66535289	124618987	2304	26255											
UBA6	55236	broad.mit.edu	37	chr4	68489854	68489854	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatacatacctgattttagTtttccttacttcagttgtct	4	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:68489854T>C	uc003hdg.3	-	30	2882	c.2830A>G	c.(2830-2832)ACT>GCT	p.T944A		NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	944					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0						CTGATTTTAGTTTTCCTTACT	0.294													C	68489854	T	C	68489854	3	2	27	1	0	0	0	0	1	0	0	0	16829	1725	60	3	344	3	UBA6	4	68489854	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1954565	68489854	122664422	2305	26256											
UBA6	55236	broad.mit.edu	37	chr4	68490772	68490772	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataattttaccagctatgcgCtttgttttgaaacggtcagc	8	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:68490772C>A	uc003hdg.3	-	29	2704	c.2652G>T	c.(2650-2652)AAG>AAT	p.K884N		NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	884					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0						CAGCTATGCGCTTTGTTTTGA	0.373													A	68490772	C	A	68490772	3	1	27	1	0	0	0	0	1	0	0	0	16829	796	28	5	526	5	UBA6	4	68490772	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	918	68490772	122663504	2306	26257											
GNRHR	2798	broad.mit.edu	37	chr4	68610386	68610386	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgaagaggcagctgaaggtGaaaaagttataaaatgcttg	12	3	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:68610386G>T	uc003hdn.2	-	2	2393	c.642C>A	c.(640-642)TTC>TTA	p.F214L	LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Intron	NM_000406	NP_000397	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor isoform	214	Helical; Name=5; (Potential).				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			ovary(1)	1					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	AGCTGAAGGTGAAAAAGTTAT	0.438													T	68610386	G	T	68610386	3	4	27	1	0	0	0	0	1	0	0	0	6549	1281	45	5	352	5	GNRHR	4	68610386	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	119614	68610386	122543890	2307	26258											
GNRHR	2798	broad.mit.edu	37	chr4	68610404	68610404	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaaaagttataaaatgcTtgatgccaccattgtgaaaa	8	5	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:68610404T>G	uc003hdn.2	-	2	2375	c.624A>C	c.(622-624)CAA>CAC	p.Q208H	LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Intron	NM_000406	NP_000397	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor isoform	208	Extracellular (Potential).				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			ovary(1)	1					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	TATAAAATGCTTGATGCCACC	0.413													G	68610404	T	G	68610404	3	3	27	1	0	0	0	0	1	0	0	0	6549	1606	56	5	370	5	GNRHR	4	68610404	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	18	68610404	122543872	2308	26259											
GNRHR	2798	broad.mit.edu	37	chr4	68619626	68619626	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagctaggggcctcgtgAtagccagggagcggtccagg	16	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:68619626A>T	uc003hdn.2	-	1	2179	c.428T>A	c.(427-429)ATC>AAC	p.I143N	LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Missense_Mutation_p.I143N	NM_000406	NP_000397	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor isoform	143	Cytoplasmic (Potential).				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			ovary(1)	1					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	GGGCCTCGTGATAGCCAGGGA	0.522													T	68619626	A	T	68619626	3	4	27	1	0	0	0	0	1	0	0	0	6549	333	12	5	570	5	GNRHR	4	68619626	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	9222	68619626	122534650	2309	26260											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68699088	68699088	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatgttattaggtctggacCggccccacattctaatgaga	9	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:68699088C>A	uc003hdq.2	-	7	591	c.526G>T	c.(526-528)GGT>TGT	p.G176C	LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc003hdp.2_5'UTR|TMPRSS11D_uc011caj.1_Missense_Mutation_p.G59C	NM_004262	NP_004253	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	176	Extracellular (Potential).				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						AGGTCTGGACCGGCCCCACAT	0.468													A	68699088	C	A	68699088	3	1	27	1	0	0	0	0	1	0	0	0	16238	652	23	5	746	5	TMPRSS11D	4	68699088	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	79462	68699088	122455188	2310	26261											
YTHDC1	91746	broad.mit.edu	37	chr4	69185861	69185862	+	Frame_Shift_Ins	INS	-	-	G													tggtctctggtgaaactcagINSggggatagtcaatccttggt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:69185860_69185861A>AG	uc003hdx.3	-	11	2017_2018	c.1664_1665T>CT	c.(1663-1665)cctfs	p.P555fs	YTHDC1_uc003hdy.3_Frame_Shift_Ins_p.P537fs	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	555	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						GGTGAAACTCAGGGGGATAGTC	0.317													G	69185862	-	G	69185861	7	5	27	1	0	1	1	0	0	0	0	0	17493	1000	35	0	543	0	YTHDC1	4	69185861	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	486773	69185861	121968415	2311	26262											
YTHDC1	91746	broad.mit.edu	37	chr4	69202890	69202890	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgttcatattcttcttcTtcctcctcctcctcctcctc	1	19	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:69202890T>C	uc003hdx.2	-	4	1091	c.738A>G	c.(736-738)GAA>GAG	p.E246E	YTHDC1_uc003hdy.2_Silent_p.E246E	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	246	Glu-rich.									upper_aerodigestive_tract(1)|ovary(1)	2						Attcttcttcttcctcctcct	0.204													C	69202890	T	C	69202890	2	2	27	1	0	0	0	0	0	0	0	1	17493	1606	56	3		3	YTHDC1	4	69202890	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	17029	69202890	121951386	2312	26263											
YTHDC1	91746	broad.mit.edu	37	chr4	69203419	69203419	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacgaattttccgatcagcAtctagacgcttgtttctttc	7	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:69203419A>G	uc003hdx.2	-	3	683	c.330T>C	c.(328-330)GAT>GAC	p.D110D	YTHDC1_uc003hdy.2_Silent_p.D110D	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	110										upper_aerodigestive_tract(1)|ovary(1)	2						TCCGATCAGCATCTAGACGCT	0.388													G	69203419	A	G	69203419	2	3	27	1	0	0	0	0	0	0	0	1	17493	214	8	3		3	YTHDC1	4	69203419	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	529	69203419	121950857	2313	26264											
UGT2A3	79799	broad.mit.edu	37	chr4	69811057	69811057	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaggtttacagtgcaaTcctccaacaaactcaaagtt	7	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:69811057T>G	uc003hef.2	-	2	862	c.831A>C	c.(829-831)GGA>GGC	p.G277G	UGT2A3_uc010ihp.1_RNA	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	277	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)|skin(1)	2						TACAGTGCAATCCTCCAACAA	0.368													G	69811057	T	G	69811057	2	3	27	1	0	0	0	0	0	0	0	1	16952	1422	50	5		5	UGT2A3	4	69811057	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	607638	69811057	121343219	2314	26265											
UGT2B10	7365	broad.mit.edu	37	chr4	69870725	69870725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaccaggtgaggtcatggGctgcaactcgaaggtgtttg	16	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:69870725G>A	uc011cao.1	-	9	1461	c.1325C>T	c.(1324-1326)GCC>GTC	p.A442V	UGT2B10_uc011can.1_Missense_Mutation_p.A358V			P36537	UDB10_HUMAN	RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;	479					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						GAGGTCATGGGCTGCAACTCG	0.483													A	69870725	G	A	69870725	3	1	27	1	0	0	0	0	1	0	0	0	16953	1203	42	2	1765	2	UGT2B10	4	69870725	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	59668	69870725	121283551	2315	26266											
UGT2B28	54490	broad.mit.edu	37	chr4	70152532	70152532	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgttttctctggggtcAgtgataagtaacatgacagc	13	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:70152532A>G	uc003hej.2	+	3	935	c.933A>G	c.(931-933)TCA>TCG	p.S311S	UGT2B28_uc010ihr.2_Silent_p.S311S	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family,	311					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1					Flunitrazepam(DB01544)	CTCTGGGGTCAGTGATAAGTA	0.408													G	70152532	A	G	70152532	2	3	27	1	0	0	0	0	0	0	0	1	16957	175	7	3		3	UGT2B28	4	70152532	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	281807	70152532	121001744	2316	26267											
SULT1B1	27284	broad.mit.edu	37	chr4	70592890	70592890	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttctcattttgggccacggtGaagtaattcttccagtcacc	8	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:70592890G>T	uc003hen.2	-	8	1105	c.807C>A	c.(805-807)TTC>TTA	p.F269L		NM_014465	NP_055280	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member	269					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol					0						GGGCCACGGTGAAGTAATTCT	0.348													T	70592890	G	T	70592890	3	4	27	1	0	0	0	0	1	0	0	0	15373	1281	45	5	87	5	SULT1B1	4	70592890	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	440358	70592890	120561386	2317	26268											
C4orf35	85438	broad.mit.edu	37	chr4	71200957	71200957	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaacaactacagacaacaaActgacagctaaaaaggaaaa	5	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:71200957A>G	uc003hff.2	+	1	287	c.201A>G	c.(199-201)AAA>AAG	p.K67K		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	67						flagellum	calcium ion binding				0		all_hematologic(202;0.196)				CAGACAACAAACTGACAGCTA	0.363													G	71200957	A	G	71200957	2	3	27	1	0	0	0	0	0	0	0	1	2265	40	2	3		3	C4orf35	4	71200957	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	608067	71200957	119953319	2318	26269											
C4orf35	85438	broad.mit.edu	37	chr4	71201519	71201519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatgacaccagtgctgtgGctacattaactgactctgat	9	9	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:71201519G>A	uc003hff.2	+	1	849	c.763G>A	c.(763-765)GCT>ACT	p.A255T		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	255						flagellum	calcium ion binding				0		all_hematologic(202;0.196)				CAGTGCTGTGGCTACATTAAC	0.388													A	71201519	G	A	71201519	3	1	27	1	0	0	0	0	1	0	0	0	2265	1203	42	2	765	2	C4orf35	4	71201519	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	562	71201519	119952757	2319	26270											
ENAM	10117	broad.mit.edu	37	chr4	71508727	71508727	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagggtcaagaaggatgccAtatgaatcagaaactaatca	9	6	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:71508727A>G	uc011caw.1	+	9	1865	c.1584A>G	c.(1582-1584)CCA>CCG	p.P528P		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	528					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)			GAAGGATGCCATATGAATCAG	0.418													G	71508727	A	G	71508727	2	3	27	1	0	0	0	0	0	0	0	1	5112	204	8	3		3	ENAM	4	71508727	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	307208	71508727	119645549	2320	26271											
ENAM	10117	broad.mit.edu	37	chr4	71509784	71509784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgctggtagctccacaGggcccaaggacaatccacta	11	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:71509784G>A	uc011caw.1	+	9	2922	c.2641G>A	c.(2641-2643)GGG>AGG	p.G881R		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	881					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)			TAGCTCCACAGGGCCCAAGGA	0.493													A	71509784	G	A	71509784	3	1	27	1	0	0	0	0	1	0	0	0	5112	1000	35	4	2671	4	ENAM	4	71509784	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1057	71509784	119644492	2321	26272											
UTP3	57050	broad.mit.edu	37	chr4	71555419	71555419	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaactgattccaaaagcaaAatccaccaagcccaaaccaa	4	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:71555419A>G	uc003hfo.2	+	1	1224	c.1025A>G	c.(1024-1026)AAA>AGA	p.K342R		NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit processome component	342					brain development|chromatin modification|gene silencing	nucleolus					0			Lung(101;0.235)			CCAAAAGCAAAATCCACCAAG	0.403													G	71555419	A	G	71555419	3	3	27	1	0	0	0	0	1	0	0	0	17098	14	1	3	1027	3	UTP3	4	71555419	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	45635	71555419	119598857	2322	26273											
RUFY3	22902	broad.mit.edu	37	chr4	71634299	71634299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgatggaagaagaaggagCcataattgctggtctgttgg	14	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:71634299C>T	uc003hfq.2	+	5	1212	c.617C>T	c.(616-618)GCC>GTC	p.A206V	RUFY3_uc003hfp.3_Missense_Mutation_p.A266V|RUFY3_uc011cax.1_Missense_Mutation_p.A224V|RUFY3_uc003hfr.2_Missense_Mutation_p.A206V|RUFY3_uc011cay.1_Missense_Mutation_p.A142V	NM_014961	NP_055776	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3 isoform 2	206	RUN.				negative regulation of axonogenesis	filopodium|growth cone					0		all_hematologic(202;0.248)	Lung(101;0.235)			GAAGAAGGAGCCATAATTGCT	0.408													T	71634299	C	T	71634299	3	4	27	1	0	0	0	0	1	0	0	0	13740	739	26	2	997	2	RUFY3	4	71634299	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	78880	71634299	119519977	2323	26274											
SLC4A4	8671	broad.mit.edu	37	chr4	72363287	72363287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaatacggaggaaacctcGtcgggaacaactgtaatttt	9	8	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:72363287G>A	uc003hfy.2	+	16	2161	c.2044G>A	c.(2044-2046)GTC>ATC	p.V682I	SLC4A4_uc010iic.2_Missense_Mutation_p.V682I|SLC4A4_uc010iib.2_Missense_Mutation_p.V682I|SLC4A4_uc003hfz.2_Missense_Mutation_p.V682I|SLC4A4_uc003hgc.3_Missense_Mutation_p.V638I|SLC4A4_uc010iid.2_Intron	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	682	Extracellular (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AGGAAACCTCGTCGGGAACAA	0.373													A	72363287	G	A	72363287	3	1	27	1	0	0	0	0	1	0	0	0	14656	1145	40	1	2223	1	SLC4A4	4	72363287	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	728988	72363287	118790989	2324	26275											
SLC4A4	8671	broad.mit.edu	37	chr4	72429508	72429508	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgtacatttttttcacAgtctgactgcccatactcag	5	12	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:72429508A>G	uc003hfy.2	+	24	3217	c.3100_splice	c.e24-2	p.S1034_splice	SLC4A4_uc010iic.2_Intron|SLC4A4_uc010iib.2_Splice_Site_p.S950_splice|SLC4A4_uc003hfz.2_Splice_Site_p.S1034_splice|SLC4A4_uc003hgc.3_Splice_Site_p.S990_splice|SLC4A4_uc010iid.2_Splice_Site_p.S238_splice	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate							basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTTTTTTCACAGTCTGACTGC	0.358													G	72429508	A	G	72429508	5	3	27	1	0	0	0	0	0	0	1	0	14656	202	7	3	3309	3	SLC4A4	4	72429508	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	66221	72429508	118724768	2325	26276											
NPFFR2	10886	broad.mit.edu	37	chr4	72994607	72994607	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttggcatattctgcatgcCtataacactgctggacaata	8	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:72994607C>A	uc003hgg.2	+	2	703	c.605C>A	c.(604-606)CCT>CAT	p.P202H	NPFFR2_uc010iig.1_Intron|NPFFR2_uc003hgi.2_Missense_Mutation_p.P103H|NPFFR2_uc003hgh.2_Missense_Mutation_p.P100H	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	202	Helical; Name=2; (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TTCTGCATGCCTATAACACTG	0.373													A	72994607	C	A	72994607	3	1	27	1	0	0	0	0	1	0	0	0	10578	681	24	5	617	5	NPFFR2	4	72994607	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	565099	72994607	118159669	2326	26277											
ANKRD17	26057	broad.mit.edu	37	chr4	73943171	73943171	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcgctccattgcttgatgTtgtgaaaatactcctgggtc	9	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:73943171T>C	uc003hgp.2	-	32	7605	c.7488A>G	c.(7486-7488)CAA>CAG	p.Q2496Q	ANKRD17_uc003hgo.2_Silent_p.Q2383Q|ANKRD17_uc003hgq.2_Silent_p.Q2245Q|ANKRD17_uc003hgr.2_Silent_p.Q2495Q	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	2496					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGCTTGATGTTGTGAAAATA	0.468													C	73943171	T	C	73943171	2	2	27	1	0	0	0	0	0	0	0	1	646	1722	60	3		3	ANKRD17	4	73943171	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	948564	73943171	117211105	2327	26278											
ANKRD17	26057	broad.mit.edu	37	chr4	73956669	73956669	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attctgacaagcactttgtgTacttaaggtcgaaggtagct	10	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:73956669T>A	uc003hgp.2	-	29	6793	c.6676A>T	c.(6676-6678)ACA>TCA	p.T2226S	ANKRD17_uc003hgo.2_Missense_Mutation_p.T2113S|ANKRD17_uc003hgq.2_Missense_Mutation_p.T1975S|ANKRD17_uc003hgr.2_Missense_Mutation_p.T2225S	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	2226					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCACTTTGTGTACTTAAGGTC	0.438													A	73956669	T	A	73956669	3	1	27	1	0	0	0	0	1	0	0	0	646	1638	57	5	1159	5	ANKRD17	4	73956669	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	13498	73956669	117197607	2328	26279											
ANKRD17	26057	broad.mit.edu	37	chr4	73957601	73957601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgagctggtggaaaagtaCctccaaagtgggtcatgggc	14	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:73957601C>T	uc003hgp.2	-	29	5861	c.5744G>A	c.(5743-5745)GGT>GAT	p.G1915D	ANKRD17_uc003hgo.2_Missense_Mutation_p.G1802D|ANKRD17_uc003hgq.2_Missense_Mutation_p.G1664D|ANKRD17_uc003hgr.2_Missense_Mutation_p.G1914D	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1915					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGAAAAGTACCTCCAAAGTG	0.542													T	73957601	C	T	73957601	3	4	27	1	0	0	0	0	1	0	0	0	646	507	18	4	2091	4	ANKRD17	4	73957601	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	932	73957601	117196675	2329	26280											
ANKRD17	26057	broad.mit.edu	37	chr4	73957799	73957799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcacagtgagtgctgtgGcagtttgagatgttgatgac	15	6	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:73957799G>A	uc003hgp.2	-	29	5663	c.5546C>T	c.(5545-5547)GCC>GTC	p.A1849V	ANKRD17_uc003hgo.2_Missense_Mutation_p.A1736V|ANKRD17_uc003hgq.2_Missense_Mutation_p.A1598V|ANKRD17_uc003hgr.2_Missense_Mutation_p.A1848V	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1849					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGTGCTGTGGCAGTTTGAGA	0.438													A	73957799	G	A	73957799	3	1	27	1	0	0	0	0	1	0	0	0	646	1203	42	2	2289	2	ANKRD17	4	73957799	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	198	73957799	117196477	2330	26281											
ANKRD17	26057	broad.mit.edu	37	chr4	74005463	74005463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcaaagcttgaggcatcGccagaggctggattggcgca	16	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:74005463G>A	uc003hgp.2	-	15	2987	c.2870C>T	c.(2869-2871)GCG>GTG	p.A957V	ANKRD17_uc003hgo.2_Missense_Mutation_p.A844V|ANKRD17_uc003hgq.2_Intron|ANKRD17_uc003hgr.2_Missense_Mutation_p.A957V|ANKRD17_uc011cbd.1_Missense_Mutation_p.A522V	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	957	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGAGGCATCGCCAGAGGCTG	0.532													A	74005463	G	A	74005463	3	1	27	1	0	0	0	0	1	0	0	0	646	1087	38	1	5021	1	ANKRD17	4	74005463	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	47664	74005463	117148813	2331	26282											
ANKRD17	26057	broad.mit.edu	37	chr4	74005740	74005740	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttctgtagttcctccaaaaTcttttgtttcttctgaattt	4	8	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:74005740T>A	uc003hgp.2	-	15	2710	c.2593A>T	c.(2593-2595)ATT>TTT	p.I865F	ANKRD17_uc003hgo.2_Missense_Mutation_p.I752F|ANKRD17_uc003hgq.2_Intron|ANKRD17_uc003hgr.2_Missense_Mutation_p.I865F|ANKRD17_uc011cbd.1_Missense_Mutation_p.I430F	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	865	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCCTCCAAAATCTTTTGTTTC	0.413													A	74005740	T	A	74005740	3	1	27	1	0	0	0	0	1	0	0	0	646	1435	50	5	5298	5	ANKRD17	4	74005740	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	277	74005740	117148536	2332	26283											
ANKRD17	26057	broad.mit.edu	37	chr4	74007530	74007530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgaggtggaacaaccaTgggcagtgcttgaactggta	13	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:74007530T>C	uc003hgp.2	-	14	2377	c.2260A>G	c.(2260-2262)ATG>GTG	p.M754V	ANKRD17_uc003hgo.2_Missense_Mutation_p.M641V|ANKRD17_uc003hgq.2_Missense_Mutation_p.M754V|ANKRD17_uc003hgr.2_Missense_Mutation_p.M754V|ANKRD17_uc011cbd.1_Missense_Mutation_p.M319V	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	754					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGAACAACCATGGGCAGTGCT	0.433													C	74007530	T	C	74007530	3	2	27	1	0	0	0	0	1	0	0	0	646	1464	51	3	5635	3	ANKRD17	4	74007530	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1790	74007530	117146746	2333	26284											
ALB	213	broad.mit.edu	37	chr4	74275073	74275073	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttctttttcaaaatttagaTacttatatgaaattgccaga	4	5	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:74275073T>A	uc003hgs.3	+	5	557	c.484T>A	c.(484-486)TAC>AAC	p.Y162N	ALB_uc003hgw.3_Intron|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Missense_Mutation_p.Y162N|ALB_uc010iii.2_Missense_Mutation_p.Y47N|ALB_uc003hgu.3_Missense_Mutation_p.Y12N|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_Missense_Mutation_p.Y52N|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'UTR	NM_000477	NP_000468	P02768	ALBU_HUMAN	albumin preproprotein	162	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)|skin(3)	6	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AAAATTTAGATACTTATATGA	0.343													A	74275073	T	A	74275073	3	1	27	1	0	0	0	0	1	0	0	0	486	1420	49	5	502	5	ALB	4	74275073	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	267543	74275073	116879203	2334	26285											
ALB	213	broad.mit.edu	37	chr4	74283993	74283993	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccatgcagatatatgcacActttctgagaaggagagaca	9	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:74283993A>G	uc003hgs.3	+	12	1690	c.1617A>G	c.(1615-1617)ACA>ACG	p.T539T	ALB_uc003hgw.3_Silent_p.T347T|ALB_uc011cbe.1_Silent_p.T218T|ALB_uc003hgt.3_Silent_p.T539T|ALB_uc010iii.2_Silent_p.T424T|ALB_uc003hgu.3_Silent_p.T389T|ALB_uc003hgv.3_Silent_p.T218T|ALB_uc011cbf.1_Silent_p.T429T|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_Silent_p.T218T	NM_000477	NP_000468	P02768	ALBU_HUMAN	albumin preproprotein	539	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)|skin(3)	6	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	ATATATGCACACTTTCTGAGA	0.398													G	74283993	A	G	74283993	2	3	27	1	0	0	0	0	0	0	0	1	486	146	6	3		3	ALB	4	74283993	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	8920	74283993	116870283	2335	26286											
AFM	173	broad.mit.edu	37	chr4	74357801	74357801	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacccagacaccttctttgcGaagtaatataactctttatt	5	10	2	1	rs141061547		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:74357801G>A	uc003hhb.2	+	8	1087	c.1056G>A	c.(1054-1056)GCG>GCA	p.A352A		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor	352	Albumin 2.				vitamin transport		vitamin E binding			ovary(2)|central_nervous_system(1)	3	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCTTCTTTGCGAAGTAATATA	0.343													A	74357801	G	A	74357801	2	1	27	1	0	0	0	0	0	0	0	1	361	1045	37	1		1	AFM	4	74357801	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	73808	74357801	116796475	2336	26287											
THAP6	152815	broad.mit.edu	37	chr4	76452318	76452318	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcattgaggaagacaatcaGggaattaaaggatgaatgtc	11	4	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:76452318G>T	uc003him.2	+	5	660	c.563G>T	c.(562-564)AGG>ATG	p.R188M	THAP6_uc003hin.2_Missense_Mutation_p.R146M|THAP6_uc011cbm.1_Intron|THAP6_uc010iiu.1_Intron|THAP6_uc003hio.1_Intron|THAP6_uc010iiv.2_Missense_Mutation_p.R188M	NM_144721	NP_653322	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	188	Potential.					microtubule cytoskeleton	DNA binding|metal ion binding				0			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AAGACAATCAGGGAATTAAAG	0.403													T	76452318	G	T	76452318	3	4	27	1	0	0	0	0	1	0	0	0	15845	1000	35	5	577	5	THAP6	4	76452318	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2094517	76452318	114701958	2337	26288											
G3BP2	9908	broad.mit.edu	37	chr4	76582913	76582913	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ataatactttgtggtgtataTcctttattagggagggaggg	13	3	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:76582913T>A	uc003hir.2	-	4	344	c.179A>T	c.(178-180)GAT>GTT	p.D60V	G3BP2_uc003his.2_Missense_Mutation_p.D60V|G3BP2_uc003hit.2_Missense_Mutation_p.D60V	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Ras-GTPase activating protein SH3 domain-binding	60	NTF2.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(2)|central_nervous_system(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GTGGTGTATATCCTTTATTAG	0.373													A	76582913	T	A	76582913	3	1	27	1	0	0	0	0	1	0	0	0	6142	1449	50	5	1305	5	G3BP2	4	76582913	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	130595	76582913	114571363	2338	26289											
USO1	8615	broad.mit.edu	37	chr4	76731585	76731585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccaatttctaatttcagGcaaaatcagttgaggtacaa	6	7	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:76731585G>A	uc003hiu.2	+	21	2651	c.2476G>A	c.(2476-2478)GCA>ACA	p.A826T	USO1_uc003hiv.2_Missense_Mutation_p.A668T|USO1_uc003hiw.2_Missense_Mutation_p.A661T	NM_003715	NP_003706	O60763	USO1_HUMAN	USO1 homolog, vesicle docking protein	826	Potential.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTAATTTCAGGCAAAATCAGT	0.328													A	76731585	G	A	76731585	3	1	27	1	0	0	0	0	1	0	0	0	17036	1217	42	2	2403	2	USO1	4	76731585	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	148672	76731585	114422691	2339	26290											
USO1	8615	broad.mit.edu	37	chr4	76734383	76734383	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaggatgaacttgaaTctggagaccaagaggatgag	14	4	1	7			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:76734383T>A	uc003hiu.2	+	23	2999	c.2824T>A	c.(2824-2826)TCT>ACT	p.S942T	USO1_uc003hiv.2_Missense_Mutation_p.S784T|USO1_uc003hiw.2_Missense_Mutation_p.S777T	NM_003715	NP_003706	O60763	USO1_HUMAN	USO1 homolog, vesicle docking protein	942	Asp/Glu-rich (acidic).			S->D: Decreased association with Golgi membranes.|S->A: Loss of phosphorylation. Promotes association with Golgi membranes.	intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGAACTTGAATCTGGAGACCA	0.338													A	76734383	T	A	76734383	3	1	27	1	0	0	0	0	1	0	0	0	17036	1435	50	5	2759	5	USO1	4	76734383	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2798	76734383	114419893	2340	26291											
NAAA	27163	broad.mit.edu	37	chr4	76842211	76842211	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaatgtaataaacatcAgcaataaggggagtcttggc	9	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:76842211A>G	uc003hjb.2	-	6	796	c.732T>C	c.(730-732)GCT>GCC	p.A244A	NAAA_uc003hja.2_Silent_p.A244A|NAAA_uc003hjc.3_Silent_p.A244A|NAAA_uc003hjd.3_RNA|NAAA_uc011cbq.1_Silent_p.A143A	NM_014435	NP_055250	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase isoform 1	244					lipid metabolic process	lysosome	hydrolase activity			skin(1)	1						AATAAACATCAGCAATAAGGG	0.527													G	76842211	A	G	76842211	2	3	27	1	0	0	0	0	0	0	0	1	10127	175	7	3		3	NAAA	4	76842211	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	107828	76842211	114312065	2341	26292											
ART3	419	broad.mit.edu	37	chr4	77003397	77003397	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaactgtggtatatagaAcaagccagggcacttcattt	8	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:77003397A>G	uc003hjo.2	+	3	609	c.490A>G	c.(490-492)ACA>GCA	p.T164A	ART3_uc003hji.2_Missense_Mutation_p.T164A|ART3_uc003hjj.2_Missense_Mutation_p.T164A|ART3_uc003hjk.2_Missense_Mutation_p.T164A|ART3_uc010ija.1_Missense_Mutation_p.T164A|ART3_uc003hjn.2_Missense_Mutation_p.T164A|ART3_uc003hjp.2_Intron|ART3_uc010ijb.2_Intron|ART3_uc003hjq.2_Intron|ART3_uc003hjr.2_Missense_Mutation_p.T134A|ART3_uc010ijc.2_Missense_Mutation_p.T134A|ART3_uc010ijd.2_Missense_Mutation_p.T134A	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3 isoform a	164					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			ovary(2)	2			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGTATATAGAACAAGCCAGGG	0.463													G	77003397	A	G	77003397	3	3	27	1	0	0	0	0	1	0	0	0	998	43	2	3	496	3	ART3	4	77003397	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	161186	77003397	114150879	2342	26293											
NUP54	53371	broad.mit.edu	37	chr4	77057529	77057529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagctggttggactgggtaGgagcttgtgtaggctgactg	17	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:77057529G>A	uc003hjs.2	-	4	460	c.332C>T	c.(331-333)CCT>CTT	p.P111L	NUP54_uc010ije.2_Intron|NUP54_uc011cbs.1_Intron|NUP54_uc011cbt.1_Missense_Mutation_p.P63L|NUP54_uc003hjt.2_Intron	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	111	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				ovary(1)|lung(1)	2						GGACTGGGTAGGAGCTTGTGT	0.383													A	77057529	G	A	77057529	3	1	27	1	0	0	0	0	1	0	0	0	10767	1000	35	4	1227	4	NUP54	4	77057529	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	54132	77057529	114096747	2343	26294											
SHROOM3	57619	broad.mit.edu	37	chr4	77677703	77677703	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcttccagactccaaacttCtatcaagggttcagaggctg	10	11	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:77677703C>T	uc011cbx.1	+	8	5764	c.4811C>T	c.(4810-4812)TCT>TTT	p.S1604F	SHROOM3_uc003hkg.2_Missense_Mutation_p.S1382F	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1604					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			CTCCAAACTTCTATCAAGGGT	0.527													T	77677703	C	T	77677703	3	4	27	1	0	0	0	0	1	0	0	0	14295	913	32	4	4841	4	SHROOM3	4	77677703	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	620174	77677703	113476573	2344	26295											
ANKRD56	345079	broad.mit.edu	37	chr4	77817430	77817430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctggatcgaggtgggcGccgacttcttttcagcaagc	12	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:77817430G>A	uc003hki.2	-	1	1573	c.1573C>T	c.(1573-1575)CGC>TGC	p.R525C		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	ankyrin repeat domain 56	525											0						CGAGGTGGGCGCCGACTTCTT	0.552													A	77817430	G	A	77817430	3	1	27	1	0	0	0	0	1	0	0	0	682	1087	38	1	812	1	ANKRD56	4	77817430	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	139727	77817430	113336846	2345	26296											
SEPT11	55752	broad.mit.edu	37	chr4	77926846	77926846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcacaatgaaccaggtgttCggttaaaagccagaagttat	9	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:77926846C>T	uc003hkj.2	+	3	397	c.235C>T	c.(235-237)CGG>TGG	p.R79W	SEPT11_uc010ijh.1_Missense_Mutation_p.R71W|SEPT11_uc011cca.1_Missense_Mutation_p.R89W	NM_018243	NP_060713	Q9NVA2	SEP11_HUMAN	septin 11	79					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding				0						ACCAGGTGTTCGGTTAAAAGC	0.418													T	77926846	C	T	77926846	3	4	27	1	0	0	0	0	1	0	0	0	14061	875	31	1	245	1	SEPT11	4	77926846	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	109416	77926846	113227430	2346	26297											
FRAS1	80144	broad.mit.edu	37	chr4	79258953	79258953	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggaagagcagttcctcaacCtcgtgggatactgtgctggt	14	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:79258953C>A	uc003hlb.2	+	20	2844	c.2404C>A	c.(2404-2406)CTC>ATC	p.L802I	FRAS1_uc003hkw.2_Missense_Mutation_p.L802I|FRAS1_uc003hkz.2_Missense_Mutation_p.L506I	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	802	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						GTTCCTCAACCTCGTGGGATA	0.552													A	79258953	C	A	79258953	3	1	27	1	0	0	0	0	1	0	0	0	6042	681	24	5	2482	5	FRAS1	4	79258953	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1332107	79258953	111895323	2347	26298											
FRAS1	80144	broad.mit.edu	37	chr4	79367983	79367983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttgagcctgcaagacctgGacaccccagataatgagctc	9	13	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:79367983G>A	uc003hlb.2	+	43	6399	c.5959G>A	c.(5959-5961)GAC>AAC	p.D1987N		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1986	CSPG 8.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						GCAAGACCTGGACACCCCAGA	0.498													A	79367983	G	A	79367983	3	1	27	1	0	0	0	0	1	0	0	0	6042	1174	41	4	6204	4	FRAS1	4	79367983	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	109030	79367983	111786293	2348	26299											
FRAS1	80144	broad.mit.edu	37	chr4	79461776	79461776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccagcgctctctcacagCtccactcagacgcaaccgaa	8	17	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:79461776C>T	uc003hlb.2	+	74	11977	c.11537C>T	c.(11536-11538)GCT>GTT	p.A3846V		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3841	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TCTCTCACAGCTCCACTCAGA	0.562													T	79461776	C	T	79461776	3	4	27	1	0	0	0	0	1	0	0	0	6042	797	28	2	11906	2	FRAS1	4	79461776	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	93793	79461776	111692500	2349	26300											
BMP3	651	broad.mit.edu	37	chr4	81967100	81967100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctcaaattcagcagaaaCcaaagtcaactccttggcca	5	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:81967100C>T	uc003hmg.3	+	2	845	c.525C>T	c.(523-525)AAC>AAT	p.N175N		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	175					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5						TCAGCAGAAACCAAAGTCAAC	0.458													T	81967100	C	T	81967100	2	4	27	1	0	0	0	0	0	0	0	1	1461	506	18	4		4	BMP3	4	81967100	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2505324	81967100	109187176	2350	26301											
BMP3	651	broad.mit.edu	37	chr4	81967414	81967414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatagccacatcagagctgCcctttccattgagcggagga	12	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:81967414C>T	uc003hmg.3	+	2	1159	c.839C>T	c.(838-840)GCC>GTC	p.A280V		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	280					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5						ATCAGAGCTGCCCTTTCCATT	0.517													T	81967414	C	T	81967414	3	4	27	1	0	0	0	0	1	0	0	0	1461	739	26	2	845	2	BMP3	4	81967414	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	314	81967414	109186862	2351	26302											
PRKG2	5593	broad.mit.edu	37	chr4	82096046	82096046	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcattccaccatgtctttgaTctgctgaggatccagtcttt	8	11	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:82096046T>G	uc003hmh.2	-	2	543	c.529A>C	c.(529-531)ATC>CTC	p.I177L	PRKG2_uc011cch.1_Missense_Mutation_p.I177L	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	177	cGMP 1.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						ATGTCTTTGATCTGCTGAGGA	0.393													G	82096046	T	G	82096046	3	3	27	1	0	0	0	0	1	0	0	0	12523	1435	50	5	1827	5	PRKG2	4	82096046	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	128632	82096046	109058230	2352	26303											
HNRPDL	9987	broad.mit.edu	37	chr4	83348623	83348623	+	Frame_Shift_Del	DEL	A	A	-													gatggtatctgctttctaacAatttttttactggctcttca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:83348622_83348622CA>C	uc003hmr.3	-	3	1405	c.870_870TG>G	c.(868-870)ttgfs	p.L290fs	HNRPDL_uc003hmq.3_Non-coding_Transcript|HNRPDL_uc003hmt.3_Frame_Shift_Del_p.L290fs	NM_031372	NP_112740	O14979	HNRDL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein D-like (HNRPDL), transcript variant 2, mRNA.	290	RRM 2.				RNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			breast(2)|endometrium(2)|kidney(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Hepatocellular(203;0.114)				TGCTTTCTAACAATTTTTTTA	0.289													-	83348623	A	-	83348623	7	5	27	1	0	1	0	1	0	0	0	0	7276	131	5	0	409	0	HNRPDL	4	83348623	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	1252577	83348623	107805653	2353	26304											
ENOPH1	58478	broad.mit.edu	37	chr4	83378162	83378162	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgggtgctcaaccaacaAcattttgtttctgacagatg	8	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:83378162A>G	uc003hmv.2	+	5	874	c.617A>G	c.(616-618)AAC>AGC	p.N206S	ENOPH1_uc003hmw.2_Missense_Mutation_p.N118S|ENOPH1_uc003hmx.2_Missense_Mutation_p.N60S	NM_021204	NP_067027	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	206					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity				0						TCAACCAACAACATTTTGTTT	0.398													G	83378162	A	G	83378162	3	3	27	1	0	0	0	0	1	0	0	0	5124	43	2	3	635	3	ENOPH1	4	83378162	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	29539	83378162	107776114	2354	26305											
MRPS18C	51023	broad.mit.edu	37	chr4	84379541	84379541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaagaacctcttaagaaaTgtatcttgtgtggaaagcat	8	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:84379541T>C	uc003hor.3	+	3	306	c.193T>C	c.(193-195)TGT>CGT	p.C65R	HELQ_uc003hom.2_5'Flank|HELQ_uc010ikb.2_5'Flank|HELQ_uc003hol.3_5'Flank|HELQ_uc010ikc.2_5'Flank|HELQ_uc003hon.1_5'Flank|HELQ_uc003hoo.1_5'Flank|HELQ_uc003hop.1_5'Flank|HELQ_uc003hoq.1_5'Flank|MRPS18C_uc011ccu.1_Missense_Mutation_p.C65R	NM_016067	NP_057151	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C precursor	65					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome				0		Hepatocellular(203;0.114)				TCTTAAGAAATGTATCTTGTG	0.318													C	84379541	T	C	84379541	3	2	27	1	0	0	0	0	1	0	0	0	9830	1464	51	3	203	3	MRPS18C	4	84379541	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1001379	84379541	106774735	2355	26306											
NKX6-1	4825	broad.mit.edu	37	chr4	85414655	85414655	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttggccgtggccatctcGgcagcgtgcttcttcctcca	10	15	3	0	rs140353706	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:85414655G>A	uc003hpa.1	-	3	897	c.891C>T	c.(889-891)GCC>GCT	p.A297A		NM_006168	NP_006159	P78426	NKX61_HUMAN	NK6 transcription factor related, locus 1	297					detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus					0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		TGGCCATCTCGGCAGCGTGCT	0.602													A	85414655	G	A	85414655	2	1	27	1	0	0	0	0	0	0	0	1	10457	1103	39	1		1	NKX6-1	4	85414655	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1035114	85414655	105739621	2356	26307											
CDS1	1040	broad.mit.edu	37	chr4	85552990	85552990	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggtttctgcatgtttgtacTgagtttggtgaagaaacatt	11	4	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:85552990T>A	uc011ccv.1	+	6	1097	c.599T>A	c.(598-600)CTG>CAG	p.L200Q	CDS1_uc010ike.1_Missense_Mutation_p.L4Q	NM_001263	NP_001254	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase 1	200	Helical; (Potential).				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			large_intestine(2)|ovary(1)|breast(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		ATGTTTGTACTGAGTTTGGTG	0.323													A	85552990	T	A	85552990	3	1	27	1	0	0	0	0	1	0	0	0	3177	1580	55	5	621	5	CDS1	4	85552990	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	138335	85552990	105601286	2357	26308											
WDFY3	23001	broad.mit.edu	37	chr4	85612938	85612938	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcctacaggttctttgagtTctagaaaaaagaaatcatgg	9	6	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:85612938T>C	uc003hpd.2	-	60	9458	c.9050A>G	c.(9049-9051)GAA>GGA	p.E3017G	WDFY3_uc003hpe.1_Missense_Mutation_p.E628G	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	3017						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTCTTTGAGTTCTAGAAAAAA	0.328													C	85612938	T	C	85612938	3	2	27	1	0	0	0	0	1	0	0	0	17267	1797	62	3	1566	3	WDFY3	4	85612938	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	59948	85612938	105541338	2358	26309											
WDFY3	23001	broad.mit.edu	37	chr4	85654602	85654602	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tataaaacatatcatttcgcAccatctttttcctcatcctg	2	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:85654602A>G	uc003hpd.2	-	44	7562	c.7154T>C	c.(7153-7155)GTG>GCG	p.V2385A	WDFY3_uc003hpe.1_Missense_Mutation_p.V13A	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2385						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATCATTTCGCACCATCTTTTT	0.512													G	85654602	A	G	85654602	3	3	27	1	0	0	0	0	1	0	0	0	17267	159	6	3	3526	3	WDFY3	4	85654602	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	41664	85654602	105499674	2359	26310											
WDFY3	23001	broad.mit.edu	37	chr4	85657439	85657439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatttggactgtgtggtggGcgctaaagcttctcctcgac	12	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:85657439G>A	uc003hpd.2	-	42	7207	c.6799C>T	c.(6799-6801)CCC>TCC	p.P2267S	WDFY3_uc003hpe.1_5'Flank	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2267						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGTGTGGTGGGCGCTAAAGCT	0.358													A	85657439	G	A	85657439	3	1	27	1	0	0	0	0	1	0	0	0	17267	1203	42	2	3889	2	WDFY3	4	85657439	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2837	85657439	105496837	2360	26311											
WDFY3	23001	broad.mit.edu	37	chr4	85658471	85658471	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agacttgtttcttactatgtAtcagttcagtccaaactctg	6	9	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:85658471A>T	uc003hpd.2	-	41	7031	c.6623T>A	c.(6622-6624)ATA>AAA	p.I2208K		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2208						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTTACTATGTATCAGTTCAGT	0.348													T	85658471	A	T	85658471	3	4	27	1	0	0	0	0	1	0	0	0	17267	449	16	5	4069	5	WDFY3	4	85658471	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1032	85658471	105495805	2361	26312											
WDFY3	23001	broad.mit.edu	37	chr4	85687073	85687073	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagactgattacttagtaggAcaacaagaatcctcatggct	8	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:85687073A>G	uc003hpd.2	-	32	5486	c.5078T>C	c.(5077-5079)GTC>GCC	p.V1693A		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1693						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACTTAGTAGGACAACAAGAAT	0.408													G	85687073	A	G	85687073	3	3	27	1	0	0	0	0	1	0	0	0	17267	275	10	3	5650	3	WDFY3	4	85687073	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	28602	85687073	105467203	2362	26313											
WDFY3	23001	broad.mit.edu	37	chr4	85707196	85707196	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggattcttgccactgttagaGacgacacagagagtgcatag	12	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:85707196G>A	uc003hpd.2	-	24	4406	c.3998C>T	c.(3997-3999)TCT>TTT	p.S1333F		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1333						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CACTGTTAGAGACGACACAGA	0.448													A	85707196	G	A	85707196	3	1	27	1	0	0	0	0	1	0	0	0	17267	942	33	4	6762	4	WDFY3	4	85707196	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	20123	85707196	105447080	2363	26314											
WDFY3	23001	broad.mit.edu	37	chr4	85716121	85716121	+	Frame_Shift_Del	DEL	A	A	-													tatgaggggccaaactgggcAaaaaaagacatctattaaag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:85716120_85716120CA>C	uc003hpd.3	-	19	3588	c.3180_3180TG>G	c.(3178-3180)ttgfs	p.L1060fs		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1060						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.L1060fs*41(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCAAACTGGGCAAAAAAAGAC	0.393													-	85716121	A	-	85716121	7	5	27	1	0	1	0	1	0	0	0	0	17267	131	5	0	7597	0	WDFY3	4	85716121	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	8925	85716121	105438155	2364	26315											
WDFY3	23001	broad.mit.edu	37	chr4	85731320	85731320	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagtcaacgtgcagaAcacagtgtgaagaagttcaa	11	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:85731320A>G	uc003hpd.2	-	14	2473	c.2065T>C	c.(2065-2067)TTC>CTC	p.F689L	WDFY3_uc003hpf.2_Missense_Mutation_p.F689L	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	689						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AACGTGCAGAACACAGTGTGA	0.448													G	85731320	A	G	85731320	3	3	27	1	0	0	0	0	1	0	0	0	17267	43	2	3	8778	3	WDFY3	4	85731320	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	15199	85731320	105422956	2365	26316											
WDFY3	23001	broad.mit.edu	37	chr4	85771148	85771148	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatcagaaaatttttctgTcattgtattcggcggagcat	9	6	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:85771148T>C	uc003hpd.2	-	5	619	c.211A>G	c.(211-213)ACA>GCA	p.T71A	WDFY3_uc003hpf.2_Missense_Mutation_p.T71A	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	71						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATTTTTCTGTCATTGTATTC	0.343													C	85771148	T	C	85771148	3	2	27	1	0	0	0	0	1	0	0	0	17267	1667	58	3	10668	3	WDFY3	4	85771148	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	39828	85771148	105383128	2366	26317											
ARHGAP24	83478	broad.mit.edu	37	chr4	86916261	86916261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatggaacggtgcgcatggGcattttgaacagcgacacac	13	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:86916261G>A	uc003hpk.2	+	9	1903	c.1454G>A	c.(1453-1455)GGC>GAC	p.G485D	ARHGAP24_uc003hpl.2_Missense_Mutation_p.G390D|ARHGAP24_uc010ikf.2_Missense_Mutation_p.G400D|ARHGAP24_uc003hpm.2_Missense_Mutation_p.G392D	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	485					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GTGCGCATGGGCATTTTGAAC	0.517													A	86916261	G	A	86916261	3	1	27	1	0	0	0	0	1	0	0	0	873	1203	42	2	1600	2	ARHGAP24	4	86916261	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1145113	86916261	104238015	2367	26318											
ARHGAP24	83478	broad.mit.edu	37	chr4	86916682	86916682	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaagtagtcgtgccaccagTagcagtgacaacagtgagac	12	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:86916682T>C	uc003hpk.2	+	9	2324	c.1875T>C	c.(1873-1875)AGT>AGC	p.S625S	ARHGAP24_uc003hpl.2_Silent_p.S530S|ARHGAP24_uc010ikf.2_Silent_p.S540S|ARHGAP24_uc003hpm.2_Silent_p.S532S	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	625					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GTGCCACCAGTAGCAGTGACA	0.527													C	86916682	T	C	86916682	2	2	27	1	0	0	0	0	0	0	0	1	873	1635	57	3		3	ARHGAP24	4	86916682	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	421	86916682	104237594	2368	26319											
MAPK10	5602	broad.mit.edu	37	chr4	87028482	87028482	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttaatggccacatttctgTcaaggacagcatcatacgcg	8	11	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:87028482T>C	uc003hpq.2	-	4	327	c.260A>G	c.(259-261)GAC>GGC	p.D87G	MAPK10_uc010ikg.2_Missense_Mutation_p.D49G|MAPK10_uc003hpr.2_Missense_Mutation_p.D49G|MAPK10_uc003hps.2_Missense_Mutation_p.D87G|MAPK10_uc003hpt.2_Missense_Mutation_p.D87G|MAPK10_uc003hpu.2_Missense_Mutation_p.D87G|MAPK10_uc003hpv.2_5'UTR|MAPK10_uc010ikh.1_RNA|MAPK10_uc003hpo.2_5'UTR|MAPK10_uc011ccw.1_5'UTR|MAPK10_uc003hpp.2_5'UTR	NM_138982	NP_620448	P53779	MK10_HUMAN	mitogen-activated protein kinase 10 isoform 2	87	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			stomach(1)|breast(1)|central_nervous_system(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CACATTTCTGTCAAGGACAGC	0.453													C	87028482	T	C	87028482	3	2	27	1	0	0	0	0	1	0	0	0	9272	1667	58	3	1179	3	MAPK10	4	87028482	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	111800	87028482	104125794	2369	26320											
PTPN13	5783	broad.mit.edu	37	chr4	87690974	87690974	+	Frame_Shift_Del	DEL	T	T	-													agctcaggtctaggattcagTttttctcgagaagataatct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:87690973_87690973GT>G	uc003hpz.3	+	28	5021	c.4541_4541GT>G	c.(4540-4542)agtfs	p.S1514fs	PTPN13_uc003hpy.3_Frame_Shift_Del_p.S1519fs|PTPN13_uc003hqa.3_Frame_Shift_Del_p.S1495fs|PTPN13_uc003hqb.3_Frame_Shift_Del_p.S1323fs|PTPN13_uc003hqc.1_5'UTR	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	1514	PDZ 3.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CTAGGATTCAGTTTTTCTCGA	0.323													-	87690974	T	-	87690974	7	5	27	1	0	1	0	1	0	0	0	0	12782	1722	60	0	4667	0	PTPN13	4	87690974	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	662492	87690974	103463302	2370	26321											
PTPN13	5783	broad.mit.edu	37	chr4	87694086	87694086	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctttgaaaaatgacttggAaaatcaccttgaagactttg	7	7	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:87694086A>G	uc003hpz.2	+	32	5804	c.5324A>G	c.(5323-5325)GAA>GGA	p.E1775G	PTPN13_uc003hpy.2_Missense_Mutation_p.E1780G|PTPN13_uc003hqa.2_Missense_Mutation_p.E1756G|PTPN13_uc003hqb.2_Missense_Mutation_p.E1584G|PTPN13_uc003hqc.1_Missense_Mutation_p.E141G	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1775						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AATGACTTGGAAAATCACCTT	0.313													G	87694086	A	G	87694086	3	3	27	1	0	0	0	0	1	0	0	0	12782	246	9	3	5461	3	PTPN13	4	87694086	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3112	87694086	103460190	2371	26322											
C4orf36	132989	broad.mit.edu	37	chr4	87809323	87809323	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtggtacattttgtgagCtgcacagaaccaccaaatga	10	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:87809323C>T	uc003hqe.3	-	3	484	c.171G>A	c.(169-171)CAG>CAA	p.Q57Q		NM_144645	NP_653246	Q96KX1	CD036_HUMAN	hypothetical protein LOC132989	57											0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		ATTTTGTGAGCTGCACAGAAC	0.393													T	87809323	C	T	87809323	2	4	27	1	0	0	0	0	0	0	0	1	2266	796	28	2		2	C4orf36	4	87809323	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	115237	87809323	103344953	2372	26323											
AFF1	4299	broad.mit.edu	37	chr4	88055677	88055677	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcctgccagctccgtAgggtcccagtcaagtgctgg	11	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:88055677A>G	uc003hqj.3	+	19	3749	c.3342A>G	c.(3340-3342)GTA>GTG	p.V1114V	AFF1_uc011ccz.1_Silent_p.V1122V|AFF1_uc003hqk.3_Silent_p.V1115V|AFF1_uc011cda.1_Silent_p.V753V	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1114						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCAGCTCCGTAGGGTCCCAGT	0.552													G	88055677	A	G	88055677	2	3	27	1	0	0	0	0	0	0	0	1	356	407	15	3		3	AFF1	4	88055677	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	246354	88055677	103098599	2373	26324											
KLHL8	57563	broad.mit.edu	37	chr4	88106516	88106516	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatttagatcactggaggAcaaaagcttatggaggtgct	11	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:88106516A>G	uc011cdb.1	-	3	1037	c.652T>C	c.(652-654)TCC>CCC	p.S218P	KLHL8_uc003hql.1_Missense_Mutation_p.S218P|KLHL8_uc003hqm.1_Missense_Mutation_p.S142P|KLHL8_uc003hqn.1_Intron|KLHL8_uc010ikj.1_Intron	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	kelch-like 8	218											0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TCACTGGAGGACAAAAGCTTA	0.428													G	88106516	A	G	88106516	3	3	27	1	0	0	0	0	1	0	0	0	8395	275	10	3	1242	3	KLHL8	4	88106516	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	50839	88106516	103047760	2374	26325											
HSD17B13	345275	broad.mit.edu	37	chr4	88243812	88243812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcccacagaaccaatatgCtctgtcgttttgcaaattca	5	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:88243812C>T	uc003hqo.2	-	1	245	c.182G>A	c.(181-183)AGC>AAC	p.S61N	HSD17B13_uc010ikk.2_Missense_Mutation_p.S61N	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	61	NAD (By similarity).					extracellular region	binding|oxidoreductase activity				0		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		AACCAATATGCTCTGTCGTTT	0.378													T	88243812	C	T	88243812	3	4	27	1	0	0	0	0	1	0	0	0	7382	797	28	2	748	2	HSD17B13	4	88243812	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	137296	88243812	102910464	2375	26326											
SPARCL1	8404	broad.mit.edu	37	chr4	88394950	88394950	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacaagagattttcatctaTgtcctctataaaaaaacaag	4	7	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:88394950T>C	uc010ikm.2	-	12	2544	c.1972A>G	c.(1972-1974)ATA>GTA	p.I658V	SPARCL1_uc011cdc.1_Missense_Mutation_p.I533V|SPARCL1_uc003hqs.3_Missense_Mutation_p.I658V|SPARCL1_uc011cdd.1_Missense_Mutation_p.I533V	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN	SPARC-like 1 precursor	658					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTTTCATCTATGTCCTCTATA	0.348													C	88394950	T	C	88394950	3	2	27	1	0	0	0	0	1	0	0	0	14995	1464	51	3	26	3	SPARCL1	4	88394950	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	151138	88394950	102759326	2376	26327											
DSPP	1834	broad.mit.edu	37	chr4	88535299	88535299	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagatgcttcttataactcTgatgaatcaaaagataatgg	9	5	3	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:88535299T>C	uc003hqu.2	+	5	1605	c.1485T>C	c.(1483-1485)TCT>TCC	p.S495S		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein preproprotein	495	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			central_nervous_system(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		CTTATAACTCTGATGAATCAA	0.393													C	88535299	T	C	88535299	2	2	27	1	0	0	0	0	0	0	0	1	4782	1567	55	3		3	DSPP	4	88535299	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	140349	88535299	102618977	2377	26328											
IBSP	3381	broad.mit.edu	37	chr4	88731774	88731774	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acaggagacttcaaatgaagGagaaaacaatgaagaatcga	10	5	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:88731774G>T	uc003hqx.3	+	6	361	c.263G>T	c.(262-264)GGA>GTA	p.G88V		NM_004967	NP_004958	P21815	SIAL_HUMAN	integrin-binding sialoprotein precursor	88	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification						0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		TCAAATGAAGGAGAAAACAAT	0.383													T	88731774	G	T	88731774	3	4	27	1	0	0	0	0	1	0	0	0	7475	1174	41	5	281	5	IBSP	4	88731774	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	196475	88731774	102422502	2378	26329											
IBSP	3381	broad.mit.edu	37	chr4	88732877	88732877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttgggaaaaccaccaccGttgaatacgagggggagtac	12	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:88732877G>A	uc003hqx.3	+	7	867	c.769G>A	c.(769-771)GTT>ATT	p.V257I		NM_004967	NP_004958	P21815	SIAL_HUMAN	integrin-binding sialoprotein precursor	257					biomineral tissue development|cell adhesion|ossification						0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		AACCACCACCGTTGAATACGA	0.483													A	88732877	G	A	88732877	3	1	27	1	0	0	0	0	1	0	0	0	7475	1145	40	1	791	1	IBSP	4	88732877	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1103	88732877	102421399	2379	26330											
PKD2	5311	broad.mit.edu	37	chr4	88964569	88964569	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcaacttttattgacttcTcagtgtacaacgccaacatt	7	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:88964569T>C	uc003hre.2	+	5	1345	c.1279T>C	c.(1279-1281)TCA>CCA	p.S427P	PKD2_uc011cdf.1_5'UTR	NM_000297	NP_000288	Q13563	PKD2_HUMAN	polycystin 2	427	Extracellular (Potential).					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			skin(1)	1		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TATTGACTTCTCAGTGTACAA	0.453													C	88964569	T	C	88964569	3	2	27	1	0	0	0	0	1	0	0	0	11966	1551	54	3	1297	3	PKD2	4	88964569	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	231692	88964569	102189707	2380	26331											
HERC5	51191	broad.mit.edu	37	chr4	89384765	89384765	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctctcacagtgccctActcacacaggtgggtgtacc	12	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:89384765A>G	uc003hrt.2	+	5	924	c.771A>G	c.(769-771)CTA>CTG	p.L257L		NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	257	RCC1 3.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		ACAGTGCCCTACTCACACAGG	0.408													G	89384765	A	G	89384765	2	3	27	1	0	0	0	0	0	0	0	1	7061	378	14	3		3	HERC5	4	89384765	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	420196	89384765	101769511	2381	26332											
HERC3	8916	broad.mit.edu	37	chr4	89577147	89577147	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccatctcctgtcaagggtTactgggctgcccacagtggc	12	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:89577147T>C	uc003hrw.1	+	9	1196	c.1030T>C	c.(1030-1032)TAC>CAC	p.Y344H	HERC3_uc003hrv.2_Missense_Mutation_p.Y344H|HERC3_uc011cdn.1_Missense_Mutation_p.Y226H|HERC3_uc011cdo.1_5'Flank	NM_014606	NP_055421	Q15034	HERC3_HUMAN	hect domain and RLD 3	344	RCC1 7.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			lung(2)|prostate(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TGTCAAGGGTTACTGGGCTGC	0.453													C	89577147	T	C	89577147	3	2	27	1	0	0	0	0	1	0	0	0	7059	1754	61	3	1056	3	HERC3	4	89577147	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	192382	89577147	101577129	2382	26333											
FAM13A	10144	broad.mit.edu	37	chr4	89668866	89668866	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtggcttcaacactgggCtttattgctttatccaccag	8	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:89668866C>T	uc003hse.1	-	18	2506	c.2298G>A	c.(2296-2298)AAG>AAA	p.K766K	FAM13A_uc003hsa.1_Silent_p.K237K|FAM13A_uc003hsb.1_Silent_p.K440K|FAM13A_uc003hsd.1_Silent_p.K440K|FAM13A_uc003hsc.1_Silent_p.K426K|FAM13A_uc011cdq.1_Silent_p.K412K|FAM13A_uc003hsf.1_Silent_p.K352K|FAM13A_uc003hsg.1_Silent_p.K237K	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	766					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						CAACACTGGGCTTTATTGCTT	0.502													T	89668866	C	T	89668866	2	4	27	1	0	0	0	0	0	0	0	1	5452	796	28	2		2	FAM13A	4	89668866	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	91719	89668866	101485410	2383	26334											
TIGD2	166815	broad.mit.edu	37	chr4	90034768	90034768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcatcattatgtgttgcGcaaatgccacaggtttacac	8	9	2	0	rs147964825		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:90034768G>A	uc003hsk.2	+	1	801	c.643G>A	c.(643-645)GCA>ACA	p.A215T	FAM13A_uc003hsh.1_5'Flank	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	215	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TATGTGTTGCGCAAATGCCAC	0.398													A	90034768	G	A	90034768	3	1	27	1	0	0	0	0	1	0	0	0	15893	1087	38	1	645	1	TIGD2	4	90034768	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	365902	90034768	101119508	2384	26335											
MMRN1	22915	broad.mit.edu	37	chr4	90844386	90844386	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagctgttggcagaggagtAgctgagcagcagcagcagca	15	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:90844386A>G	uc003hst.2	+	4	989	c.918A>G	c.(916-918)GTA>GTG	p.V306V	MMRN1_uc010iku.2_Silent_p.V272V|MMRN1_uc011cds.1_Silent_p.V48V	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	306					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GCAGAGGAGTAGCTGAGCAGC	0.443													G	90844386	A	G	90844386	2	3	27	1	0	0	0	0	0	0	0	1	9670	407	15	3		3	MMRN1	4	90844386	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	809618	90844386	100309890	2385	26336											
GRID2	2895	broad.mit.edu	37	chr4	94690472	94690472	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacaaagcagaaaggaggCgccctggacataaagagctt	12	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:94690472C>T	uc011cdt.1	+	15	2730	c.2472C>T	c.(2470-2472)GGC>GGT	p.G824G	GRID2_uc011cdu.1_Silent_p.G729G	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	824	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGAAAGGAGGCGCCCTGGACA	0.512													T	94690472	C	T	94690472	2	4	27	1	0	0	0	0	0	0	0	1	6772	755	27	1		1	GRID2	4	94690472	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3846086	94690472	96463804	2386	26337											
SMARCAD1	56916	broad.mit.edu	37	chr4	95162126	95162126	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaagatgaatttaatgatgAtcaatctataaaaaagacaa	7	3	2	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:95162126A>T	uc003htc.3	+	6	929	c.674A>T	c.(673-675)GAT>GTT	p.D225V	SMARCAD1_uc003htb.3_Missense_Mutation_p.D225V|SMARCAD1_uc003htd.3_Missense_Mutation_p.D225V|SMARCAD1_uc010ila.2_Missense_Mutation_p.D88V	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	225					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTTAATGATGATCAATCTATA	0.353													T	95162126	A	T	95162126	3	4	27	1	0	0	0	0	1	0	0	0	14772	333	12	5	692	5	SMARCAD1	4	95162126	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	471654	95162126	95992150	2387	26338											
SMARCAD1	56916	broad.mit.edu	37	chr4	95174135	95174135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagataacagaactccggCcctttaatagttgggaggct	11	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:95174135C>T	uc003htc.3	+	9	1513	c.1258C>T	c.(1258-1260)CCC>TCC	p.P420S	SMARCAD1_uc003htb.3_Missense_Mutation_p.P420S|SMARCAD1_uc003htd.3_Missense_Mutation_p.P420S|SMARCAD1_uc010ila.2_Missense_Mutation_p.P283S|SMARCAD1_uc011cdw.1_5'Flank	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	420					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AGAACTCCGGCCCTTTAATAG	0.388													T	95174135	C	T	95174135	3	4	27	1	0	0	0	0	1	0	0	0	14772	739	26	2	1288	2	SMARCAD1	4	95174135	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	12009	95174135	95980141	2388	26339											
PDLIM5	10611	broad.mit.edu	37	chr4	95575695	95575695	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatacaatggcctacatTggatttgtagaggagaaagg	11	4	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:95575695T>C	uc003hti.2	+	10	1519	c.1368T>C	c.(1366-1368)ATT>ATC	p.I456I	PDLIM5_uc011cdx.1_Silent_p.I353I|PDLIM5_uc003hth.2_Silent_p.I347I|PDLIM5_uc003htj.2_Silent_p.I131I|PDLIM5_uc003htk.2_Silent_p.I485I|PDLIM5_uc011cdy.1_Silent_p.I334I|PDLIM5_uc003htl.2_Silent_p.I131I	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	456	LIM zinc-binding 1.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TGGCCTACATTGGATTTGTAG	0.453													C	95575695	T	C	95575695	2	2	27	1	0	0	0	0	0	0	0	1	11683	1800	63	3		3	PDLIM5	4	95575695	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	401560	95575695	95578581	2389	26340											
BMPR1B	658	broad.mit.edu	37	chr4	96025677	96025677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtcttgcgttgtaaatgCcaccaccattgtccagaaga	9	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:96025677C>T	uc003htm.3	+	4	376	c.102C>T	c.(100-102)TGC>TGT	p.C34C	BMPR1B_uc010ilb.2_Silent_p.C34C|BMPR1B_uc003htn.3_Silent_p.C34C	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	34	Extracellular (Potential).				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GTTGTAAATGCCACCACCATT	0.423													T	96025677	C	T	96025677	2	4	27	1	0	0	0	0	0	0	0	1	1470	747	26	2		2	BMPR1B	4	96025677	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	449982	96025677	95128599	2390	26341											
BMPR1B	658	broad.mit.edu	37	chr4	96035907	96035907	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcacgatgatagaagaggaTgactctgggttgcctgtggt	14	6	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:96035907T>C	uc003htm.3	+	5	454	c.180T>C	c.(178-180)GAT>GAC	p.D60D	BMPR1B_uc010ilb.2_Silent_p.D60D|BMPR1B_uc003htn.3_Silent_p.D60D	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	60	Extracellular (Potential).				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		TAGAAGAGGATGACTCTGGGT	0.363													C	96035907	T	C	96035907	2	2	27	1	0	0	0	0	0	0	0	1	1470	1461	51	3		3	BMPR1B	4	96035907	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	10230	96035907	95118369	2391	26342											
PDHA2	5161	broad.mit.edu	37	chr4	96761865	96761865	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaaacgatgagatctgTttgactttatatggggatgg	13	3	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:96761865T>C	uc003htr.3	+	1	627	c.564T>C	c.(562-564)TGT>TGC	p.C188C		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	188					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ATGAGATCTGTTTGACTTTAT	0.493													C	96761865	T	C	96761865	2	2	27	1	0	0	0	0	0	0	0	1	11665	1731	60	3		3	PDHA2	4	96761865	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	725958	96761865	94392411	2392	26343											
METAP1	23173	broad.mit.edu	37	chr4	99969899	99969899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagtgaagcctggtgttcGgtacagagaattgggaaaca	13	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:99969899G>A	uc003huf.3	+	9	920	c.803G>A	c.(802-804)CGG>CAG	p.R268Q	METAP1_uc003hug.2_RNA|METAP1_uc010ild.2_Intron	NM_015143	NP_055958	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	268					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		CCTGGTGTTCGGTACAGAGAA	0.333													A	99969899	G	A	99969899	3	1	27	1	0	0	0	0	1	0	0	0	9486	1116	39	1	837	1	METAP1	4	99969899	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3208034	99969899	91184377	2393	26344											
ADH7	131	broad.mit.edu	37	chr4	100341722	100341722	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcccaataacttcaaaggTgtatcccacgttgttgcctg	8	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:100341722T>C	uc003huv.1	-	6	928	c.829A>G	c.(829-831)ACC>GCC	p.T277A		NM_000673	NP_000664	P40394	ADH7_HUMAN	class IV alcohol dehydrogenase, mu or sigma	277					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			lung(2)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	ACTTCAAAGGTGTATCCCACG	0.438													C	100341722	T	C	100341722	3	2	27	1	0	0	0	0	1	0	0	0	313	1696	59	3	347	3	ADH7	4	100341722	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	371823	100341722	90812554	2394	26345											
MTTP	4547	broad.mit.edu	37	chr4	100522814	100522814	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacatcagagaaactgttatGatcatcactgggacacttgt	9	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:100522814G>A	uc003hvc.3	+	11	1543	c.1287G>A	c.(1285-1287)ATG>ATA	p.M429I	MTTP_uc011cej.1_Missense_Mutation_p.M456I	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	429	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AAACTGTTATGATCATCACTG	0.358													A	100522814	G	A	100522814	3	1	27	1	0	0	0	0	1	0	0	0	9964	1290	45	4	1325	4	MTTP	4	100522814	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	181092	100522814	90631462	2395	26346											
DNAJB14	79982	broad.mit.edu	37	chr4	100824976	100824976	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaataacattcctttatAttcatttttgaagtccttgt	4	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:100824976A>T	uc003hvl.2	-	7	1073	c.922T>A	c.(922-924)TAT>AAT	p.Y308N	DNAJB14_uc003hvk.2_Missense_Mutation_p.Y223N|DNAJB14_uc010ili.2_Missense_Mutation_p.Y241N	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	308					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		ATTCCTTTATATTCATTTTTG	0.318													T	100824976	A	T	100824976	3	4	27	1	0	0	0	0	1	0	0	0	4619	449	16	5	225	5	DNAJB14	4	100824976	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	302162	100824976	90329300	2396	26347											
DNAJB14	79982	broad.mit.edu	37	chr4	100844339	100844339	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtaatttttacatttgttTatgctgtgaacaagagagtg	9	3	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:100844339T>C	uc003hvl.2	-	3	460	c.309A>G	c.(307-309)ATA>ATG	p.I103M	DNAJB14_uc003hvk.2_Missense_Mutation_p.I18M|DNAJB14_uc010ili.2_Missense_Mutation_p.I36M	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	103					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		TACATTTGTTTATGCTGTGAA	0.274													C	100844339	T	C	100844339	3	2	27	1	0	0	0	0	1	0	0	0	4619	1744	61	3	854	3	DNAJB14	4	100844339	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	19363	100844339	90309937	2397	26348											
DDIT4L	115265	broad.mit.edu	37	chr4	101108899	101108899	+	Nonsense_Mutation	SNP	C	C	A													tttcttaacaagtcgaaatcCtgagctgaggatcagagttc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:101108899C>A	uc003hvq.2	-	3	720	c.517G>T	c.(517-519)GGA>TGA	p.G173*		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	173					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		AGTCGAAATCCTGAGCTGAGG	0.393													A	101108899	C	A	101108899	4	1	27	1	0	0	0	0	0	1	0	0	4332	690	24	5	68	5	DDIT4L	4	101108899	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	264560	101108899	90045377	2398	26349	89	2	2	8		4	3	50	N	C_A	9.28288e-05
DDIT4L	115265	broad.mit.edu	37	chr4	101108907	101108907	+	Missense_Mutation	SNP	A	A	G													caagtcgaaatcctgagctgAggatcagagttctcctgaaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:101108907A>G	uc003hvq.2	-	3	712	c.509T>C	c.(508-510)CTC>CCC	p.L170P		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	170					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		TCCTGAGCTGAGGATCAGAGT	0.393													G	101108907	A	G	101108907	3	3	27	1	0	0	0	0	1	0	0	0	4332	304	11	3	76	3	DDIT4L	4	101108907	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	8	101108907	90045369	2399	26350	89	2	2	8		4	3	50	N	C_A	9.28288e-05
DDIT4L	115265	broad.mit.edu	37	chr4	101108927	101108927	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggatcagagttctcctgaaAccagaggagaagcgacctct	11	10	3	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:101108927A>C	uc003hvq.2	-	3	692	c.489T>G	c.(487-489)GGT>GGG	p.G163G		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	163					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		TTCTCCTGAAACCAGAGGAGA	0.423													C	101108927	A	C	101108927	2	2	27	1	0	0	0	0	0	0	0	1	4332	30	2	5		5	DDIT4L	4	101108927	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	20	101108927	90045349	2400	26351			2	8		4	3	50	N	C_A	9.28288e-05
DDIT4L	115265	broad.mit.edu	37	chr4	101108948	101108948	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggagaagcgacctctActaaagaaaaagtccctgaa	9	10	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:101108948A>G	uc003hvq.2	-	3	671	c.468T>C	c.(466-468)AGT>AGC	p.S156S		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	156					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		AGCGACCTCTACTAAAGAAAA	0.428													G	101108948	A	G	101108948	2	3	27	1	0	0	0	0	0	0	0	1	4332	388	14	3		3	DDIT4L	4	101108948	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	21	101108948	90045328	2401	26352			2	8		4	3	50	N	C_A	9.28288e-05
NFKB1	4790	broad.mit.edu	37	chr4	103500113	103500113	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcagcgtggtgcggctcaTgtttacagcttttcttccgg	11	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:103500113T>G	uc011ceq.1	+	8	1111	c.644T>G	c.(643-645)ATG>AGG	p.M215R	NFKB1_uc011cep.1_Missense_Mutation_p.M216R|NFKB1_uc011cer.1_Missense_Mutation_p.M35R	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	215	RHD.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GTGCGGCTCATGTTTACAGCT	0.532													G	103500113	T	G	103500113	3	3	27	1	0	0	0	0	1	0	0	0	10375	1464	51	5	673	5	NFKB1	4	103500113	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2391165	103500113	87654163	2402	26353											
NFKB1	4790	broad.mit.edu	37	chr4	103500181	103500181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaacccgtggtatcagacGccatctatgacagtagtgag	12	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:103500181G>A	uc011ceq.1	+	8	1179	c.712G>A	c.(712-714)GCC>ACC	p.A238T	NFKB1_uc011cep.1_Missense_Mutation_p.A239T|NFKB1_uc011cer.1_Missense_Mutation_p.A58T	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	238	RHD.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GGTATCAGACGCCATCTATGA	0.418													A	103500181	G	A	103500181	3	1	27	1	0	0	0	0	1	0	0	0	10375	1087	38	1	741	1	NFKB1	4	103500181	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	68	103500181	87654095	2403	26354											
NFKB1	4790	broad.mit.edu	37	chr4	103501757	103501757	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctggatgtgtgactggaGgggaggaaatttatcttctt	14	5	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:103501757G>T	uc011ceq.1	+	9	1260	c.793G>T	c.(793-795)GGG>TGG	p.G265W	NFKB1_uc011cep.1_Missense_Mutation_p.G266W|NFKB1_uc011cer.1_Missense_Mutation_p.G85W	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	265	RHD.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	TGTGACTGGAGGGGAGGAAAT	0.403													T	103501757	G	T	103501757	3	4	27	1	0	0	0	0	1	0	0	0	10375	1000	35	5	826	5	NFKB1	4	103501757	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1576	103501757	87652519	2404	26355											
NFKB1	4790	broad.mit.edu	37	chr4	103514652	103514652	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatagtttcggcggtggtagTggtgctggagctggaggcgg	21	5	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:103514652T>C	uc011ceq.1	+	12	1601	c.1134T>C	c.(1132-1134)AGT>AGC	p.S378S	NFKB1_uc011cep.1_Silent_p.S379S|NFKB1_uc011cer.1_Silent_p.S198S	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	378	GRR.|Gly-rich.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GCGGTGGTAGTGGTGCTGGAG	0.483													C	103514652	T	C	103514652	2	2	27	1	0	0	0	0	0	0	0	1	10375	1693	59	3		3	NFKB1	4	103514652	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	12895	103514652	87639624	2405	26356											
NFKB1	4790	broad.mit.edu	37	chr4	103527752	103527752	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctggaccgcttgggtaacTctgttttgcacctagctgcc	10	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:103527752T>G	uc011ceq.1	+	17	2316	c.1849T>G	c.(1849-1851)TCT>GCT	p.S617A	NFKB1_uc011cep.1_Missense_Mutation_p.S618A|NFKB1_uc011cer.1_Missense_Mutation_p.S437A	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	617	Interaction with CFLAR.|ANK 3.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	CTTGGGTAACTCTGTTTTGCA	0.522													G	103527752	T	G	103527752	3	3	27	1	0	0	0	0	1	0	0	0	10375	1551	54	5	1914	5	NFKB1	4	103527752	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	13100	103527752	87626524	2406	26357											
MANBA	4126	broad.mit.edu	37	chr4	103595084	103595084	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaataacttacaactcagaGgttactcggtcctggaatga	8	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:103595084G>T	uc003hwg.2	-	8	1204	c.1104C>A	c.(1102-1104)ACC>ACA	p.T368T	MANBA_uc011ces.1_Silent_p.T311T	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor	368					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		ACAACTCAGAGGTTACTCGGT	0.373													T	103595084	G	T	103595084	2	4	27	1	0	0	0	0	0	0	0	1	9219	987	35	5		5	MANBA	4	103595084	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	67332	103595084	87559192	2407	26358											
CENPE	1062	broad.mit.edu	37	chr4	104059586	104059586	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaaccttttttcaggtttTacttggtggttctgtcggtc	10	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:104059586T>C	uc003hxb.1	-	39	6315	c.6225A>G	c.(6223-6225)GTA>GTG	p.V2075V	CENPE_uc003hxc.1_Silent_p.V1954V|CENPE_uc003hxd.1_RNA	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	2075	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTCAGGTTTTACTTGGTGGT	0.373													C	104059586	T	C	104059586	2	2	27	1	0	0	0	0	0	0	0	1	3230	1741	61	3		3	CENPE	4	104059586	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	464502	104059586	87094690	2408	26359											
CENPE	1062	broad.mit.edu	37	chr4	104080340	104080340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagtgcttttataattcgActgtgtagttgctaggtcat	9	6	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:104080340A>G	uc003hxb.1	-	22	2518	c.2428T>C	c.(2428-2430)TCG>CCG	p.S810P	CENPE_uc003hxc.1_Missense_Mutation_p.S785P	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	810	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTATAATTCGACTGTGTAGTT	0.333													G	104080340	A	G	104080340	3	3	27	1	0	0	0	0	1	0	0	0	3230	275	10	3	5789	3	CENPE	4	104080340	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	20754	104080340	87073936	2409	26360											
CENPE	1062	broad.mit.edu	37	chr4	104101599	104101599	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccaattggtctttttccaTtgcctgagcccgcgtctcta	9	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:104101599T>C	uc003hxb.1	-	13	1201	c.1111A>G	c.(1111-1113)ATG>GTG	p.M371V	CENPE_uc003hxc.1_Missense_Mutation_p.M371V	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	371	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCTTTTTCCATTGCCTGAGCC	0.353													C	104101599	T	C	104101599	3	2	27	1	0	0	0	0	1	0	0	0	3230	1493	52	3	7142	3	CENPE	4	104101599	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	21259	104101599	87052677	2410	26361											
CENPE	1062	broad.mit.edu	37	chr4	104106977	104106977	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttaattacctgcagcgccTgtttgagcagctctttcact	7	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:104106977T>C	uc003hxb.1	-	9	825	c.735A>G	c.(733-735)ACA>ACG	p.T245T	CENPE_uc003hxc.1_Silent_p.T245T	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	245	Kinesin-motor.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTGCAGCGCCTGTTTGAGCAG	0.308													C	104106977	T	C	104106977	2	2	27	1	0	0	0	0	0	0	0	1	3230	1567	55	3		3	CENPE	4	104106977	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	5378	104106977	87047299	2411	26362											
TACR3	6870	broad.mit.edu	37	chr4	104577457	104577457	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgtaatacccatgatgAgcaatgggaaacagtacacc	9	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:104577457A>C	uc003hxe.1	-	3	925	c.782T>G	c.(781-783)CTC>CGC	p.L261R		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	261	Helical; Name=5; (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ACCCATGATGAGCAATGGGAA	0.388													C	104577457	A	C	104577457	3	2	27	1	0	0	0	0	1	0	0	0	15504	304	11	5	627	5	TACR3	4	104577457	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	470480	104577457	86576819	2412	26363											
TET2	54790	broad.mit.edu	37	chr4	106155657	106155657	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagattctgaatgagcaggaGgggaaaagtgctaattacca	12	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:106155657G>A	uc003hxk.2	+	3	944	c.558G>A	c.(556-558)GAG>GAA	p.E186E	TET2_uc011cez.1_Silent_p.E207E|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Silent_p.E186E|TET2_uc003hxi.1_Silent_p.E186E	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	186					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATGAGCAGGAGGGGAAAAGTG	0.418			Mis N|F		MDS								A	106155657	G	A	106155657	2	1	27	1	0	0	0	0	0	0	0	1	15767	991	35	4		4	TET2	4	106155657	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1578200	106155657	84998619	2413	26364											
TET2	54790	broad.mit.edu	37	chr4	106156631	106156631	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaagaccaatgtcagaacAcctcaagcataacccaccaa	4	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:106156631A>G	uc003hxk.2	+	3	1918	c.1532A>G	c.(1531-1533)CAC>CGC	p.H511R	TET2_uc011cez.1_Missense_Mutation_p.H532R|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.H511R|TET2_uc003hxi.1_Missense_Mutation_p.H511R	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	511					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATGTCAGAACACCTCAAGCAT	0.443			Mis N|F		MDS								G	106156631	A	G	106156631	3	3	27	1	0	0	0	0	1	0	0	0	15767	159	6	3	1534	3	TET2	4	106156631	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	974	106156631	84997645	2414	26365											
INTS12	57117	broad.mit.edu	37	chr4	106613138	106613138	+	Frame_Shift_Del	DEL	T	T	-													aaatatgattcctaccattcTtttcatttgtctggtacatc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:106613137_106613137CT>C	uc003hxw.3	-	5	911	c.653_653AG>G	c.(652-654)agafs	p.R218fs	INTS12_uc010ilr.3_Frame_Shift_Del_p.R218fs	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	Homo sapiens integrator complex subunit 12 (INTS12), transcript variant 1, mRNA.	218					snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TCCTACCATTCTTTTCATTTG	0.373													-	106613138	T	-	106613138	7	5	27	1	0	1	0	1	0	0	0	0	7777	1617	56	0	748	0	INTS12	4	106613138	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	456507	106613138	84541138	2415	26366											
NPNT	255743	broad.mit.edu	37	chr4	106848532	106848532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacatggtgaatgtatcgGgccaaacaagtgcaagtgtc	11	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:106848532G>A	uc003hya.2	+	3	417	c.212G>A	c.(211-213)GGG>GAG	p.G71E	NPNT_uc011cfc.1_Missense_Mutation_p.G88E|NPNT_uc011cfd.1_Missense_Mutation_p.G71E|NPNT_uc011cfe.1_Missense_Mutation_p.G71E|NPNT_uc010ilt.1_Missense_Mutation_p.G71E|NPNT_uc011cff.1_Missense_Mutation_p.G71E|NPNT_uc010ilu.1_5'UTR	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	71	EGF-like 1.				cell differentiation	membrane	calcium ion binding			skin(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		GAATGTATCGGGCCAAACAAG	0.413													A	106848532	G	A	106848532	3	1	27	1	0	0	0	0	1	0	0	0	10590	1232	43	4	277	4	NPNT	4	106848532	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	235394	106848532	84305744	2416	26367											
NPNT	255743	broad.mit.edu	37	chr4	106861286	106861286	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctagatttaggcaatgtgTcaacacttttgggagctaca	9	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:106861286T>C	uc003hya.2	+	6	765	c.560T>C	c.(559-561)GTC>GCC	p.V187A	NPNT_uc011cfc.1_Missense_Mutation_p.V204A|NPNT_uc011cfd.1_Missense_Mutation_p.V217A|NPNT_uc011cfe.1_Missense_Mutation_p.V217A|NPNT_uc010ilt.1_Missense_Mutation_p.V187A|NPNT_uc011cff.1_Missense_Mutation_p.V187A|NPNT_uc010ilu.1_Missense_Mutation_p.V83A	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	187	EGF-like 4; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			skin(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AGGCAATGTGTCAACACTTTT	0.403													C	106861286	T	C	106861286	3	2	27	1	0	0	0	0	1	0	0	0	10590	1667	58	3	731	3	NPNT	4	106861286	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	12754	106861286	84292990	2417	26368											
PAPSS1	9061	broad.mit.edu	37	chr4	108566127	108566127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggaggaggaggacagggCgccggtagcccctctctaga	18	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:108566127C>T	uc003hyk.2	-	10	1421	c.1337G>A	c.(1336-1338)CGC>CAC	p.R446H		NM_005443	NP_005434	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase	446	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		GAGGACAGGGCGCCGGTAGCC	0.532													T	108566127	C	T	108566127	3	4	27	1	0	0	0	0	1	0	0	0	11434	768	27	1	549	1	PAPSS1	4	108566127	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1704841	108566127	82588149	2418	26369											
HADH	3033	broad.mit.edu	37	chr4	108954337	108954337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgttttctccttaggtgacGcatccaaagaagacattgac	8	11	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:108954337G>A	uc003hyq.2	+	7	864	c.715G>A	c.(715-717)GCA>ACA	p.A239T	HADH_uc010ilx.2_Missense_Mutation_p.A256T|HADH_uc010ily.2_Missense_Mutation_p.A62T|HADH_uc003hyr.2_Missense_Mutation_p.A243T	NM_005327	NP_005318	Q16836	HCDH_HUMAN	L-3-hydroxyacyl-Coenzyme A dehydrogenase	239					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	CTTAGGTGACGCATCCAAAGA	0.453													A	108954337	G	A	108954337	3	1	27	1	0	0	0	0	1	0	0	0	6942	1087	38	1	796	1	HADH	4	108954337	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	388210	108954337	82199939	2419	26370											
COL25A1	84570	broad.mit.edu	37	chr4	110223192	110223192	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcgtggcggggtcggccGtctcggcttcgcttcccacc	14	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:110223192G>A	uc003hze.1	-	2	515	c.-16C>T	c.(-18--14)GACGG>GATGG		COL25A1_uc003hzg.2_Translation_Start_Site|COL25A1_uc003hzh.1_Translation_Start_Site	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1							collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGGGTCGGCCGTCTCGGCTTC	0.582													A	110223192	G	A	110223192	1	1	27	1	0	0	0	0	0	0	0	0	3684	1160	40	1		1	COL25A1	4	110223192	Translation_Start_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1268855	110223192	80931084	2420	26371											
SEC24B	10427	broad.mit.edu	37	chr4	110427546	110427546	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtcttcagagttctccAcaaccagaaagcctgagacc	8	12	3	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:110427546A>G	uc003hzk.2	+	7	1606	c.1551A>G	c.(1549-1551)CCA>CCG	p.P517P	SEC24B_uc003hzl.2_Silent_p.P482P|SEC24B_uc011cfp.1_Silent_p.P547P|SEC24B_uc011cfq.1_Silent_p.P516P|SEC24B_uc011cfr.1_Silent_p.P481P	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	517					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGAGTTCTCCACAACCAGAAA	0.418													G	110427546	A	G	110427546	2	3	27	1	0	0	0	0	0	0	0	1	13995	146	6	3		3	SEC24B	4	110427546	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	204354	110427546	80726730	2421	26372											
CFI	3426	broad.mit.edu	37	chr4	110685814	110685814	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactattccctctgaatctgTatttccatgcttcaaggaaa	5	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:110685814T>C	uc003hzr.3	-	3	569	c.361A>G	c.(361-363)ACA>GCA	p.T121A	CFI_uc003hzq.2_5'Flank|CFI_uc011cft.1_Missense_Mutation_p.T121A|CFI_uc003hzs.3_Missense_Mutation_p.T121A	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	121	SRCR.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TCTGAATCTGTATTTCCATGC	0.353													C	110685814	T	C	110685814	3	2	27	1	0	0	0	0	1	0	0	0	3289	1638	57	3	1434	3	CFI	4	110685814	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	258268	110685814	80468462	2422	26373											
EGF	1950	broad.mit.edu	37	chr4	110925696	110925696	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcgaaaaacccaaagaatcCttatgaggagtcgagcagag	10	8	0	3	rs121434567		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:110925696C>A	uc003hzy.3	+	22	3661	c.3209C>A	c.(3208-3210)CCT>CAT	p.P1070H	EGF_uc011cfu.1_Missense_Mutation_p.P1028H|EGF_uc011cfv.1_Missense_Mutation_p.P1029H|EGF_uc010imk.2_Missense_Mutation_p.P218H	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	1070	Cytoplasmic (Potential).		P -> L (in HOMG4; affects basolateral sorting of pro-EGF preventing the hormone to stimulate EGFR; lack of TRPM6 activation).		angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CCAAAGAATCCTTATGAGGAG	0.468													A	110925696	C	A	110925696	3	1	27	1	0	0	0	0	1	0	0	0	4962	681	24	5	3295	5	EGF	4	110925696	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	239882	110925696	80228580	2423	26374											
ENPEP	2028	broad.mit.edu	37	chr4	111470987	111470987	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaacttcattagctcaagaaAaagaaaaactgctgtatgga	7	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:111470987A>T	uc003iab.3	+	17	2788	c.2446A>T	c.(2446-2448)AAA>TAA	p.K816*		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	816	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AGCTCAAGAAAAAGAAAAACT	0.363													T	111470987	A	T	111470987	4	4	27	1	0	0	0	0	0	1	0	0	5128	15	1	5	2512	5	ENPEP	4	111470987	Nonsense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	545291	111470987	79683289	2424	26375											
ENPEP	2028	broad.mit.edu	37	chr4	111474605	111474605	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcaactgggactatctagTcaacaggtgggatgatctga	11	8	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:111474605T>C	uc003iab.3	+	18	2978	c.2636T>C	c.(2635-2637)GTC>GCC	p.V879A		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	879	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GACTATCTAGTCAACAGGTGG	0.398													C	111474605	T	C	111474605	3	2	27	1	0	0	0	0	1	0	0	0	5128	1667	58	3	2706	3	ENPEP	4	111474605	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3618	111474605	79679671	2425	26376											
ALPK1	80216	broad.mit.edu	37	chr4	113353667	113353667	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctgttggcaggagtgagGcatgattggctgtttcagag	16	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:113353667G>A	uc003iap.3	+	11	3243	c.2964G>A	c.(2962-2964)AGG>AGA	p.R988R	ALPK1_uc003ian.3_Silent_p.R988R|ALPK1_uc011cfx.1_Silent_p.R910R|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Silent_p.R816R	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	988							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAGGAGTGAGGCATGATTGGC	0.478													A	113353667	G	A	113353667	2	1	27	1	0	0	0	0	0	0	0	1	544	1194	42	2		2	ALPK1	4	113353667	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1879062	113353667	77800609	2426	26377											
ALPK1	80216	broad.mit.edu	37	chr4	113362087	113362087	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttaggttgggtaaccggtAatggaaaaggactcatctac	11	6	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:113362087A>G	uc003iap.3	+	15	3832	c.3553A>G	c.(3553-3555)AAT>GAT	p.N1185D	ALPK1_uc003ian.3_Missense_Mutation_p.N1185D|ALPK1_uc011cfx.1_Missense_Mutation_p.N1107D|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Missense_Mutation_p.N1013D	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1185	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GGTAACCGGTAATGGAAAAGG	0.333													G	113362087	A	G	113362087	3	3	27	1	0	0	0	0	1	0	0	0	544	362	13	3	3603	3	ALPK1	4	113362087	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	8420	113362087	77792189	2427	26378											
C4orf21	55345	broad.mit.edu	37	chr4	113538886	113538887	+	Frame_Shift_Ins	INS	-	-	T													gtctttggaaataagatgctINStttttcccagtgggtaaaac							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:113538885_113538886C>CT	uc003iau.3	-	5	2523_2524	c.2312_2313G>AG	c.(2311-2313)aagfs	p.K771fs	C4orf21_uc003iaw.3_Frame_Shift_Ins_p.K771fs	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	771										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AAATAAGATGCTTTTTTCCCAG	0.371													T	113538887	-	T	113538886	7	5	27	1	0	1	1	0	0	0	0	0	2254	1609	56	0	4094	0	C4orf21	4	113538886	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	176799	113538886	77615390	2428	26379											
ANK2	287	broad.mit.edu	37	chr4	114276808	114276808	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacacctacaggactgactgAggaggcagcctgtgatgaag	14	9	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:114276808A>G	uc003ibe.3	+	38	7134	c.7034A>G	c.(7033-7035)GAG>GGG	p.E2345G	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.E2360G	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2312					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)		GGACTGACTGAGGAGGCAGCC	0.488													G	114276808	A	G	114276808	3	3	27	1	0	0	0	0	1	0	0	0	621	304	11	3	7249	3	ANK2	4	114276808	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	737922	114276808	76877468	2429	26380											
ANK2	287	broad.mit.edu	37	chr4	114277375	114277375	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggagagctcagggaagaGccccctttctcctgacaccc	10	15	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:114277375G>T	uc003ibe.3	+	38	7701	c.7601G>T	c.(7600-7602)AGC>ATC	p.S2534I	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S2549I	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2501					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)		TCAGGGAAGAGCCCCCTTTCT	0.537													T	114277375	G	T	114277375	3	4	27	1	0	0	0	0	1	0	0	0	621	971	34	5	7816	5	ANK2	4	114277375	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	567	114277375	76876901	2430	26381											
ANK2	287	broad.mit.edu	37	chr4	114280116	114280116	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattgccagttaagagcagaAgcactacatcttcctgcagg	10	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:114280116A>G	uc003ibe.3	+	38	10442	c.10342A>G	c.(10342-10344)AGC>GGC	p.S3448G	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.S750G|ANK2_uc011cgb.1_Missense_Mutation_p.S3463G	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3415					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)		TAAGAGCAGAAGCACTACATC	0.463													G	114280116	A	G	114280116	3	3	27	1	0	0	0	0	1	0	0	0	621	72	3	3	10557	3	ANK2	4	114280116	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2741	114280116	76874160	2431	26382											
ANK2	287	broad.mit.edu	37	chr4	114294255	114294255	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caactgtttagggagacgatAtgcctgaaatacccccagaa	9	10	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:114294255A>G	uc003ibe.3	+	44	11720	c.11620A>G	c.(11620-11622)ATG>GTG	p.M3874V	ANK2_uc003ibd.3_Missense_Mutation_p.M1780V|ANK2_uc003ibf.3_Missense_Mutation_p.M1789V|ANK2_uc011cgc.1_Missense_Mutation_p.M965V|ANK2_uc003ibg.3_Missense_Mutation_p.M804V|ANK2_uc003ibh.3_Missense_Mutation_p.M494V|ANK2_uc011cgd.1_Missense_Mutation_p.M1176V|ANK2_uc010imr.2_5'Flank|ANK2_uc010ims.2_5'Flank	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3841					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)		GGGAGACGATATGCCTGAAAT	0.428													G	114294255	A	G	114294255	3	3	27	1	0	0	0	0	1	0	0	0	621	449	16	3	11859	3	ANK2	4	114294255	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	14139	114294255	76860021	2432	26383											
ANK2	287	broad.mit.edu	37	chr4	114294470	114294470	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcattaggcggtatgtAtcctctgaaggcacagagaa	10	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:114294470A>G	uc003ibe.3	+	45	11824	c.11724A>G	c.(11722-11724)GTA>GTG	p.V3908V	ANK2_uc003ibd.3_Silent_p.V1814V|ANK2_uc003ibf.3_Silent_p.V1823V|ANK2_uc011cgc.1_Silent_p.V999V|ANK2_uc003ibg.3_Silent_p.V838V|ANK2_uc003ibh.3_Silent_p.V528V|ANK2_uc011cgd.1_Silent_p.V1210V|ANK2_uc010imr.2_5'UTR|ANK2_uc010ims.2_5'UTR	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3875					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)		GGCGGTATGTATCCTCTGAAG	0.388													G	114294470	A	G	114294470	2	3	27	1	0	0	0	0	0	0	0	1	621	436	16	3		3	ANK2	4	114294470	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	215	114294470	76859806	2433	26384											
CAMK2D	817	broad.mit.edu	37	chr4	114473243	114473243	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtcttcaaacagttcaccTccagtaactctgggaagata	7	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:114473243T>C	uc003ibi.2	-	5	1144	c.285A>G	c.(283-285)GGA>GGG	p.G95G	CAMK2D_uc003ibj.2_Silent_p.G95G|CAMK2D_uc003ibk.2_Silent_p.G95G|CAMK2D_uc003ibo.3_Silent_p.G95G|CAMK2D_uc003ibm.2_Silent_p.G95G|CAMK2D_uc003ibn.2_Silent_p.G95G|CAMK2D_uc003ibl.2_Silent_p.G95G	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II	95	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		ACAGTTCACCTCCAGTAACTC	0.353													C	114473243	T	C	114473243	2	2	27	1	0	0	0	0	0	0	0	1	2601	1538	54	3		3	CAMK2D	4	114473243	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	178773	114473243	76681033	2434	26385											
NDST4	64579	broad.mit.edu	37	chr4	115767046	115767046	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttggctttggggacaAgagatgcggctcgtcttgga	15	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:115767046A>G	uc003ibu.2	-	10	2727	c.2048T>C	c.(2047-2049)CTT>CCT	p.L683P	NDST4_uc010imw.2_RNA	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	683	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTTGGGGACAAGAGATGCGGC	0.443													G	115767046	A	G	115767046	3	3	27	1	0	0	0	0	1	0	0	0	10258	72	3	3	590	3	NDST4	4	115767046	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1293803	115767046	75387230	2435	26386											
NDST4	64579	broad.mit.edu	37	chr4	115998016	115998016	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcagctccattgacctataTggtagaattttgatgtcagt	8	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:115998016T>A	uc003ibu.2	-	2	856	c.177A>T	c.(175-177)CCA>CCT	p.P59P	NDST4_uc010imw.2_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	59	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTGACCTATATGGTAGAATTT	0.418													A	115998016	T	A	115998016	2	1	27	1	0	0	0	0	0	0	0	1	10258	1451	51	5		5	NDST4	4	115998016	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	230970	115998016	75156260	2436	26387											
TRAM1L1	133022	broad.mit.edu	37	chr4	118005579	118005579	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgaatattagaatcttctAcccacctctgaagccagaga	6	12	3	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:118005579A>G	uc003ibv.3	-	1	1158	c.971T>C	c.(970-972)GTA>GCA	p.V324A		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like	324	Cytoplasmic (Potential).|TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)	1						AGAATCTTCTACCCACCTCTG	0.408													G	118005579	A	G	118005579	3	3	27	1	0	0	0	0	1	0	0	0	16449	391	14	3	142	3	TRAM1L1	4	118005579	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2007563	118005579	73148697	2437	26388											
METTL14	57721	broad.mit.edu	37	chr4	119631199	119631199	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaatagcaactacaatgcAgaaacatatgcatcctattt	4	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:119631199A>G	uc003icf.2	+	11	1229	c.1113A>G	c.(1111-1113)GCA>GCG	p.A371A	METTL14_uc003icg.2_Silent_p.A333A	NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN	methyltransferase like 14	371						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity				0						ACTACAATGCAGAAACATATG	0.378													G	119631199	A	G	119631199	2	3	27	1	0	0	0	0	0	0	0	1	9498	175	7	3		3	METTL14	4	119631199	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1625620	119631199	71523077	2438	26389											
METTL14	57721	broad.mit.edu	37	chr4	119631225	119631225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgcatcctatttcagtgCtcctaattcctacttgactg	5	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:119631225C>T	uc003icf.2	+	11	1255	c.1139C>T	c.(1138-1140)GCT>GTT	p.A380V	METTL14_uc003icg.2_Missense_Mutation_p.A342V	NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN	methyltransferase like 14	380						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity				0						TATTTCAGTGCTCCTAATTCC	0.433													T	119631225	C	T	119631225	3	4	27	1	0	0	0	0	1	0	0	0	9498	797	28	2	1181	2	METTL14	4	119631225	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	26	119631225	71523051	2439	26390											
SEC24D	9871	broad.mit.edu	37	chr4	119644689	119644689	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attaattaagcagctgacagAtctccttgtgaacacaacaa	6	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:119644689A>G	uc003ici.3	-	23	3352	c.3080T>C	c.(3079-3081)ATC>ACC	p.I1027T	SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Missense_Mutation_p.I1028T	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	1027					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0						CAGCTGACAGATCTCCTTGTG	0.393													G	119644689	A	G	119644689	3	3	27	1	0	0	0	0	1	0	0	0	13997	333	12	3	22	3	SEC24D	4	119644689	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	13464	119644689	71509587	2440	26391											
SEC24D	9871	broad.mit.edu	37	chr4	119644736	119644736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacataagaagagcctccGtaaagtcctttgtcttctac	6	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:119644736G>A	uc003ici.3	-	23	3305	c.3033C>T	c.(3031-3033)TAC>TAT	p.Y1011Y	SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Silent_p.Y1012Y	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	1011					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0						AAGAGCCTCCGTAAAGTCCTT	0.383													A	119644736	G	A	119644736	2	1	27	1	0	0	0	0	0	0	0	1	13997	1140	40	1		1	SEC24D	4	119644736	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	47	119644736	71509540	2441	26392											
SEC24D	9871	broad.mit.edu	37	chr4	119686061	119686061	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtccagatgttggaaatAgaatggtggaactaataaaa	12	3	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:119686061A>G	uc003ici.3	-	10	1464	c.1192T>C	c.(1192-1194)TAT>CAT	p.Y398H	SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Missense_Mutation_p.Y399H|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	398					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0						TGTTGGAAATAGAATGGTGGA	0.318													G	119686061	A	G	119686061	3	3	27	1	0	0	0	0	1	0	0	0	13997	420	15	3	1962	3	SEC24D	4	119686061	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	41325	119686061	71468215	2442	26393											
SYNPO2	171024	broad.mit.edu	37	chr4	119947952	119947952	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagactgaagttcccctagCtgagaaccaaagaagtggtc	10	10	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:119947952C>A	uc003icm.3	+	3	624	c.428C>A	c.(427-429)GCT>GAT	p.A143D	SYNPO2_uc010ina.2_Missense_Mutation_p.A143D|SYNPO2_uc010inb.2_Missense_Mutation_p.A143D|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.A71D	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	143						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						GTTCCCCTAGCTGAGAACCAA	0.547													A	119947952	C	A	119947952	3	1	27	1	0	0	0	0	1	0	0	0	15454	797	28	5	438	5	SYNPO2	4	119947952	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	261891	119947952	71206324	2443	26394											
MYOZ2	51778	broad.mit.edu	37	chr4	120107215	120107215	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattgctaacagatcccaggTttatgtcctttgtcaatccc	6	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:120107215T>G	uc003icp.3	+	6	868	c.655T>G	c.(655-657)TTT>GTT	p.F219V		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	myozenin 2	219							protein phosphatase 2B binding				0						AGATCCCAGGTTTATGTCCTT	0.408													G	120107215	T	G	120107215	3	3	27	1	0	0	0	0	1	0	0	0	10096	1725	60	5	673	5	MYOZ2	4	120107215	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	159263	120107215	71047061	2444	26395											
USP53	54532	broad.mit.edu	37	chr4	120181691	120181691	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaaaaaataaaaattcgCcgtgttttaatgaattgccc	7	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:120181691C>T	uc003ics.3	+	10	1771	c.705C>T	c.(703-705)CGC>CGT	p.R235R	USP53_uc003icr.3_Silent_p.R235R|USP53_uc003icu.3_5'UTR	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	235					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4						TAAAAATTCGCCGTGTTTTAA	0.373													T	120181691	C	T	120181691	2	4	27	1	0	0	0	0	0	0	0	1	17081	726	26	2		2	USP53	4	120181691	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	74476	120181691	70972585	2445	26396											
PRDM5	11107	broad.mit.edu	37	chr4	121719441	121719441	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttatgattcttgtaaAcatttctgtgggcaaatccc	6	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:121719441A>T	uc003idn.2	-	10	1419	c.1169T>A	c.(1168-1170)GTT>GAT	p.V390D	PRDM5_uc003ido.2_Missense_Mutation_p.V359D|PRDM5_uc010ine.2_Missense_Mutation_p.V359D	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	390	C2H2-type 8.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2						ATTCTTGTAAACATTTCTGTG	0.303													T	121719441	A	T	121719441	3	4	27	1	0	0	0	0	1	0	0	0	12460	43	2	5	751	5	PRDM5	4	121719441	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1537750	121719441	69434835	2446	26397											
PRDM5	11107	broad.mit.edu	37	chr4	121742449	121742449	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	caggtagccaatcagaagctCcgtgtctgtttctatatctt	8	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:121742449C>G	uc003idn.2	-	4	602	c.352G>C	c.(352-354)GAG>CAG	p.E118Q	PRDM5_uc003ido.2_Missense_Mutation_p.E118Q|PRDM5_uc010ine.2_Missense_Mutation_p.E118Q|PRDM5_uc010inf.2_Missense_Mutation_p.E118Q	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	118	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2						ATCAGAAGCTCCGTGTCTGTT	0.373													G	121742449	C	G	121742449	3	3	27	1	0	0	0	0	1	0	0	0	12460	864	30	5	1592	5	PRDM5	4	121742449	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	23008	121742449	69411827	2447	26398											
C4orf31	79625	broad.mit.edu	37	chr4	121957507	121957507	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cataaacatccagcaggtaaGatttgccaggctgaagacct	9	10	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:121957507G>A	uc003idq.1	-	4	2146	c.1619C>T	c.(1618-1620)TCT>TTT	p.S540F		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	540	Fibronectin type-III 2.										0						CAGCAGGTAAGATTTGCCAGG	0.403													A	121957507	G	A	121957507	3	1	27	1	0	0	0	0	1	0	0	0	2261	942	33	4	91	4	C4orf31	4	121957507	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	215058	121957507	69196769	2448	26399											
KIAA1109	84162	broad.mit.edu	37	chr4	123107245	123107245	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgactttgaatttcatgTctataatcgctcggatcttt	6	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:123107245T>C	uc003ieh.2	+	5	458	c.413T>C	c.(412-414)GTC>GCC	p.V138A	KIAA1109_uc003iei.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	138					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						GAATTTCATGTCTATAATCGC	0.343													C	123107245	T	C	123107245	3	2	27	1	0	0	0	0	1	0	0	0	8208	1667	58	3	431	3	KIAA1109	4	123107245	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1149738	123107245	68047031	2449	26400											
KIAA1109	84162	broad.mit.edu	37	chr4	123109221	123109221	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgttcctagtccaagaTatgttggtcttcaaaatgat	8	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:123109221T>G	uc003ieh.2	+	7	844	c.799T>G	c.(799-801)TAT>GAT	p.Y267D	KIAA1109_uc003iei.1_Missense_Mutation_p.Y21D	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	267					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TAGTCCAAGATATGTTGGTCT	0.303													G	123109221	T	G	123109221	3	3	27	1	0	0	0	0	1	0	0	0	8208	1406	49	5	825	5	KIAA1109	4	123109221	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1976	123109221	68045055	2450	26401											
KIAA1109	84162	broad.mit.edu	37	chr4	123145659	123145659	+	Frame_Shift_Del	DEL	C	C	-													attattgttttcagcagcgaCcccctgtggatgaagtactc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:123145659delC	uc003ieh.2	+	21	2665	c.2620delC	c.(2620-2622)CCCfs	p.P874fs	KIAA1109_uc003iei.1_Frame_Shift_Del_p.P627fs|KIAA1109_uc010ins.1_Frame_Shift_Del_p.P217fs|KIAA1109_uc003iej.1_Frame_Shift_Del_p.P259fs	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	874					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TCAGCAGCGACCCCCTGTGGA	0.443													-	123145659	C	-	123145659	7	5	27	1	0	1	0	1	0	0	0	0	8208	507	18	0	2702	0	KIAA1109	4	123145659	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	36438	123145659	68008617	2451	26402											
KIAA1109	84162	broad.mit.edu	37	chr4	123184100	123184100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggtactcctcagagaaGcagtgctgctgtgaaaagta	13	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:123184100G>A	uc003ieh.2	+	41	6989	c.6944G>A	c.(6943-6945)AGC>AAC	p.S2315N	KIAA1109_uc003iel.1_Missense_Mutation_p.S250N|KIAA1109_uc003iek.2_Missense_Mutation_p.S934N	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2315					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CCTCAGAGAAGCAGTGCTGCT	0.473													A	123184100	G	A	123184100	3	1	27	1	0	0	0	0	1	0	0	0	8208	971	34	2	7106	2	KIAA1109	4	123184100	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	38441	123184100	67970176	2452	26403											
KIAA1109	84162	broad.mit.edu	37	chr4	123229282	123229282	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcactgtcaatgatctGggaatttgcctacctatcac	7	12	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:123229282G>A	uc003ieh.2	+	56	10065	c.10020G>A	c.(10018-10020)CTG>CTA	p.L3340L	KIAA1109_uc003iel.1_Silent_p.L1275L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3340					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TCAATGATCTGGGAATTTGCC	0.413													A	123229282	G	A	123229282	2	1	27	1	0	0	0	0	0	0	0	1	8208	1335	47	4		4	KIAA1109	4	123229282	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	45182	123229282	67924994	2453	26404											
KIAA1109	84162	broad.mit.edu	37	chr4	123254921	123254921	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctacagacaaagcctagtgActtagaaacaacagtatttt	6	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:123254921A>G	uc003ieh.2	+	66	11648	c.11603A>G	c.(11602-11604)GAC>GGC	p.D3868G	KIAA1109_uc003iem.2_Missense_Mutation_p.D259G	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3868					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AAGCCTAGTGACTTAGAAACA	0.368													G	123254921	A	G	123254921	3	3	27	1	0	0	0	0	1	0	0	0	8208	275	10	3	11865	3	KIAA1109	4	123254921	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	25639	123254921	67899355	2454	26405											
KIAA1109	84162	broad.mit.edu	37	chr4	123257435	123257435	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagaaatggttattagTccctgcctattagactttct	7	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:123257435T>A	uc003ieh.2	+	68	11982	c.11937T>A	c.(11935-11937)AGT>AGA	p.S3979R	KIAA1109_uc003iem.2_Missense_Mutation_p.S335R|KIAA1109_uc003ien.2_5'Flank	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3979					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TGGTTATTAGTCCCTGCCTAT	0.403													A	123257435	T	A	123257435	3	1	27	1	0	0	0	0	1	0	0	0	8208	1664	58	5	12207	5	KIAA1109	4	123257435	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2514	123257435	67896841	2455	26406											
ADAD1	132612	broad.mit.edu	37	chr4	123302219	123302219	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttcctccaaaaaaaaTacctaaggaatttataatga	4	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:123302219T>A	uc003ieo.2	+	4	477	c.245T>A	c.(244-246)ATA>AAA	p.I82K	ADAD1_uc003iep.2_Missense_Mutation_p.I82K|ADAD1_uc003ieq.2_Missense_Mutation_p.I64K	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	82					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						CCAAAAAAAATACCTAAGGAA	0.363													A	123302219	T	A	123302219	3	1	27	1	0	0	0	0	1	0	0	0	231	1406	49	5	251	5	ADAD1	4	123302219	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	44784	123302219	67852057	2456	26407											
NUDT6	11162	broad.mit.edu	37	chr4	123838694	123838694	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgaagcatatcctggtaatCtgctgggcccttctctcagc	10	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:123838694C>T	uc003iew.2	-	2	436	c.404G>A	c.(403-405)AGA>AAA	p.R135K	NUDT6_uc003iex.2_5'UTR	NM_007083	NP_009014	P53370	NUDT6_HUMAN	nudix-type motif 6 isoform a	135						mitochondrion|nucleus	growth factor activity|hydrolase activity				0						TCCTGGTAATCTGCTGGGCCC	0.468													T	123838694	C	T	123838694	3	4	27	1	0	0	0	0	1	0	0	0	10743	913	32	4	562	4	NUDT6	4	123838694	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	536475	123838694	67315582	2457	26408											
NUDT6	11162	broad.mit.edu	37	chr4	123843587	123843587	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgaatctgtccagctcgccCtgcagatcgcacgctccaac	8	18	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:123843587C>A	uc003iew.2	-	1	173	c.141G>T	c.(139-141)CAG>CAT	p.Q47H	SPATA5_uc003iey.2_5'Flank|SPATA5_uc003iez.3_5'Flank|NUDT6_uc003iex.2_Intron	NM_007083	NP_009014	P53370	NUDT6_HUMAN	nudix-type motif 6 isoform a	47						mitochondrion|nucleus	growth factor activity|hydrolase activity				0						CCAGCTCGCCCTGCAGATCGC	0.701													A	123843587	C	A	123843587	3	1	27	1	0	0	0	0	1	0	0	0	10743	680	24	5	829	5	NUDT6	4	123843587	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4893	123843587	67310689	2458	26409											
SPATA5	166378	broad.mit.edu	37	chr4	123844395	123844395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgcggaggcacgggctcCttctgctggatcagacttcg	14	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:123844395C>T	uc003iez.3	+	1	171	c.98C>T	c.(97-99)CCT>CTT	p.P33L	SPATA5_uc003iey.2_Missense_Mutation_p.P33L|NUDT6_uc003iew.2_5'Flank|NUDT6_uc003iex.2_5'Flank	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	33					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0						GCACGGGCTCCTTCTGCTGGA	0.542													T	123844395	C	T	123844395	3	4	27	1	0	0	0	0	1	0	0	0	15010	681	24	4	100	4	SPATA5	4	123844395	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	808	123844395	67309881	2459	26410											
ANKRD50	57182	broad.mit.edu	37	chr4	125590911	125590911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgacagtgatgacttctgcCggtcaactgtagaatctgga	11	8	3	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:125590911C>T	uc003ifg.3	-	3	3787	c.3521G>A	c.(3520-3522)CGG>CAG	p.R1174Q	ANKRD50_uc011cgo.1_Missense_Mutation_p.R995Q|ANKRD50_uc010inw.2_Missense_Mutation_p.R1174Q	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1174	Ser-rich.									central_nervous_system(1)	1						TGACTTCTGCCGGTCAACTGT	0.428													T	125590911	C	T	125590911	3	4	27	1	0	0	0	0	1	0	0	0	677	652	23	1	772	1	ANKRD50	4	125590911	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1746516	125590911	65563365	2460	26411											
ANKRD50	57182	broad.mit.edu	37	chr4	125591399	125591399	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgcaaagcagagcgcttTtcattgtctgcagcattgac	10	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:125591399T>C	uc003ifg.3	-	3	3299	c.3033A>G	c.(3031-3033)GAA>GAG	p.E1011E	ANKRD50_uc011cgo.1_Silent_p.E832E|ANKRD50_uc010inw.2_Silent_p.E1011E	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1011	ANK 17.									central_nervous_system(1)	1						CAGAGCGCTTTTCATTGTCTG	0.488													C	125591399	T	C	125591399	2	2	27	1	0	0	0	0	0	0	0	1	677	1838	64	3		3	ANKRD50	4	125591399	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	488	125591399	65562877	2461	26412											
ANKRD50	57182	broad.mit.edu	37	chr4	125591412	125591412	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcgcttttcattgtctgcaGcattgacgtcagcatggtat	10	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:125591412G>T	uc003ifg.3	-	3	3286	c.3020C>A	c.(3019-3021)GCT>GAT	p.A1007D	ANKRD50_uc011cgo.1_Missense_Mutation_p.A828D|ANKRD50_uc010inw.2_Missense_Mutation_p.A1007D	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1007	ANK 16.									central_nervous_system(1)	1						ATTGTCTGCAGCATTGACGTC	0.498													T	125591412	G	T	125591412	3	4	27	1	0	0	0	0	1	0	0	0	677	971	34	5	1273	5	ANKRD50	4	125591412	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	13	125591412	65562864	2462	26413											
FAT4	79633	broad.mit.edu	37	chr4	126239682	126239682	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagaatgagcctggaggtAgctacatcaccactgtgtct	12	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:126239682A>G	uc003ifj.3	+	1	2116	c.2116A>G	c.(2116-2118)AGC>GGC	p.S706G		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	706	Cadherin 7.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GCCTGGAGGTAGCTACATCAC	0.473													G	126239682	A	G	126239682	3	3	27	1	0	0	0	0	1	0	0	0	5692	420	15	3	2118	3	FAT4	4	126239682	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	648270	126239682	64914594	2463	26414											
FAT4	79633	broad.mit.edu	37	chr4	126241702	126241702	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttgccaaaaaactggActttgaaacacagtctttgt	6	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:126241702A>T	uc003ifj.3	+	1	4136	c.4136A>T	c.(4135-4137)GAC>GTC	p.D1379V		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1379	Cadherin 13.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AAAAAACTGGACTTTGAAACA	0.378													T	126241702	A	T	126241702	3	4	27	1	0	0	0	0	1	0	0	0	5692	275	10	5	4138	5	FAT4	4	126241702	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2020	126241702	64912574	2464	26415											
FAT4	79633	broad.mit.edu	37	chr4	126371457	126371457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctcaaagccacatgagtGcaaccatccctgagagccat	7	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:126371457G>A	uc003ifj.3	+	9	9286	c.9286G>A	c.(9286-9288)GCA>ACA	p.A3096T	FAT4_uc011cgp.1_Missense_Mutation_p.A1394T|FAT4_uc003ifi.1_Missense_Mutation_p.A574T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3096	Cadherin 30.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CCACATGAGTGCAACCATCCC	0.448													A	126371457	G	A	126371457	3	1	27	1	0	0	0	0	1	0	0	0	5692	1319	46	2	9320	2	FAT4	4	126371457	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	129755	126371457	64782819	2465	26416											
FAT4	79633	broad.mit.edu	37	chr4	126373323	126373323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcatcttacttcgtctcGgcgtaccaacagtaaaggac	8	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:126373323G>A	uc003ifj.3	+	9	11152	c.11152G>A	c.(11152-11154)GGC>AGC	p.G3718S	FAT4_uc011cgp.1_Missense_Mutation_p.G2016S|FAT4_uc003ifi.1_Missense_Mutation_p.G1196S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3718	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ACTTCGTCTCGGCGTACCAAC	0.463													A	126373323	G	A	126373323	3	1	27	1	0	0	0	0	1	0	0	0	5692	1116	39	1	11186	1	FAT4	4	126373323	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1866	126373323	64780953	2466	26417											
FAT4	79633	broad.mit.edu	37	chr4	126411099	126411099	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctatgtggtatggtggagaAagtcttcctttcagcgggaa	13	6	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:126411099A>C	uc003ifj.3	+	17	13122	c.13122A>C	c.(13120-13122)GAA>GAC	p.E4374D	FAT4_uc011cgp.1_Missense_Mutation_p.E2615D|FAT4_uc003ifi.1_Missense_Mutation_p.E1851D	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4374	Laminin G-like 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ATGGTGGAGAAAGTCTTCCTT	0.448													C	126411099	A	C	126411099	3	2	27	1	0	0	0	0	1	0	0	0	5692	11	1	5	13188	5	FAT4	4	126411099	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	37776	126411099	64743177	2467	26418											
FAT4	79633	broad.mit.edu	37	chr4	126412663	126412663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcctcgaaggtaccacggtCgcagggccgagggaggacct	16	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:126412663C>T	uc003ifj.3	+	17	14686	c.14686C>T	c.(14686-14688)CGC>TGC	p.R4896C	FAT4_uc011cgp.1_Missense_Mutation_p.R3137C|FAT4_uc003ifi.1_Missense_Mutation_p.R2373C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4896	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GTACCACGGTCGCAGGGCCGA	0.522													T	126412663	C	T	126412663	3	4	27	1	0	0	0	0	1	0	0	0	5692	884	31	1	14752	1	FAT4	4	126412663	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1564	126412663	64741613	2468	26419											
INTU	27152	broad.mit.edu	37	chr4	128584698	128584698	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acactcctcatatcattatgTatctcacactacagctcgac	3	14	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:128584698T>C	uc003ifk.1	+	4	1001	c.931T>C	c.(931-933)TAT>CAT	p.Y311H	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	311										ovary(1)	1						TATCATTATGTATCTCACACT	0.423													C	128584698	T	C	128584698	3	2	27	1	0	0	0	0	1	0	0	0	7786	1638	57	3	945	3	INTU	4	128584698	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2172035	128584698	62569578	2469	26420											
INTU	27152	broad.mit.edu	37	chr4	128627710	128627710	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagctattgggagtcctggAccagactgtgtatatgtgga	13	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:128627710A>G	uc003ifk.1	+	12	1927	c.1857A>G	c.(1855-1857)GGA>GGG	p.G619G	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	619										ovary(1)	1						GGAGTCCTGGACCAGACTGTG	0.418													G	128627710	A	G	128627710	2	3	27	1	0	0	0	0	0	0	0	1	7786	262	10	3		3	INTU	4	128627710	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	43012	128627710	62526566	2470	26421											
HSPA4L	22824	broad.mit.edu	37	chr4	128724795	128724795	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaaacaggtcttggctacTacctttgatccatatttggg	8	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:128724795T>C	uc003ifm.2	+	7	928	c.675T>C	c.(673-675)ACT>ACC	p.T225T	HSPA4L_uc010iny.1_Silent_p.T184T|HSPA4L_uc011cgr.1_Silent_p.T192T	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	225					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						TCTTGGCTACTACCTTTGATC	0.299													C	128724795	T	C	128724795	2	2	27	1	0	0	0	0	0	0	0	1	7413	1509	53	3		3	HSPA4L	4	128724795	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	97085	128724795	62429481	2471	26422											
SCLT1	132320	broad.mit.edu	37	chr4	129812262	129812262	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgagaaagcagctcttgGgtatgaagtttctgtcgact	12	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:129812262G>A	uc003igp.2	-	19	2366	c.1860C>T	c.(1858-1860)ACC>ACT	p.T620T	SCLT1_uc003ign.2_Silent_p.T284T|SCLT1_uc003igo.2_Silent_p.T230T|SCLT1_uc003igq.2_Silent_p.T239T|SCLT1_uc010iob.1_Silent_p.T107T	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	620	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5						GCAGCTCTTGGGTATGAAGTT	0.398													A	129812262	G	A	129812262	2	1	27	1	0	0	0	0	0	0	0	1	13906	1219	43	4		4	SCLT1	4	129812262	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1087467	129812262	61342014	2472	26423											
SCLT1	132320	broad.mit.edu	37	chr4	129886438	129886438	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaacgcctatctgatgcTtcctctcttccatgggcaga	8	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:129886438T>G	uc003igp.2	-	11	1319	c.813A>C	c.(811-813)GAA>GAC	p.E271D	SCLT1_uc003ign.2_Intron|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	271	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5						TATCTGATGCTTCCTCTCTTC	0.348													G	129886438	T	G	129886438	3	3	27	1	0	0	0	0	1	0	0	0	13906	1606	56	5	1297	5	SCLT1	4	129886438	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	74176	129886438	61267838	2473	26424											
SCLT1	132320	broad.mit.edu	37	chr4	129920859	129920859	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttcaaatacatgaatctGggcctcagtcatatgttcct	6	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:129920859G>A	uc003igp.2	-	7	1023	c.517C>T	c.(517-519)CAG>TAG	p.Q173*	SCLT1_uc003igo.2_5'Flank|SCLT1_uc003igq.2_Nonsense_Mutation_p.Q173*|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	173	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5						ACATGAATCTGGGCCTCAGTC	0.358													A	129920859	G	A	129920859	4	1	27	1	0	0	0	0	0	1	0	0	13906	1357	47	4	1609	4	SCLT1	4	129920859	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	34421	129920859	61233417	2474	26425											
SCLT1	132320	broad.mit.edu	37	chr4	129924995	129924995	+	Frame_Shift_Del	DEL	T	T	-													cccaggggaaaggcctccaaTtttttttcaacagcatcttt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:129924994_129924994AT>A	uc003igp.2	-	5	834	c.328_328AT>T	c.(328-330)ttgfs	p.L110fs	SCLT1_uc003igq.2_Frame_Shift_Del_p.L110fs|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	110						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						AAGGCCTCCAATTTTTTTTCA	0.383													-	129924995	T	-	129924995	7	5	27	1	0	1	0	1	0	0	0	0	13906	1490	52	0	1803	0	SCLT1	4	129924995	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	4136	129924995	61229281	2475	26426											
PCDH10	57575	broad.mit.edu	37	chr4	134071649	134071650	+	Frame_Shift_Ins	INS	-	-	C													tgctggacattaatgacaacINScccccctctttcccggagcc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:134071648_134071649A>AC	uc003iha.3	+	0	1179_1180	c.353_354A>AC	c.(352-354)aacfs	p.N118fs	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Frame_Shift_Ins_p.N118fs	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	118	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S121fs*13(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTAATGACAACCCCCCCTCTT	0.604													C	134071650	-	C	134071649	7	5	27	1	0	1	1	0	0	0	0	0	11507	506	18	0	356	0	PCDH10	4	134071649	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	4146654	134071649	57082627	2476	26427											
PCDH10	57575	broad.mit.edu	37	chr4	134071888	134071888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcagcaagcggtgcaccGctacgtgctgaccgcggtgg	16	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:134071888G>A	uc003iha.2	+	1	1419	c.593G>A	c.(592-594)CGC>CAC	p.R198H	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R198H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	198	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GCGGTGCACCGCTACGTGCTG	0.493													A	134071888	G	A	134071888	3	1	27	1	0	0	0	0	1	0	0	0	11507	1087	38	1	595	1	PCDH10	4	134071888	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	239	134071888	57082388	2477	26428											
PCDH10	57575	broad.mit.edu	37	chr4	134073029	134073029	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgccatcgtggcgcctctAccagggcgcaacgggactcc	12	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:134073029A>G	uc003iha.2	+	1	2560	c.1734A>G	c.(1732-1734)CTA>CTG	p.L578L	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.L578L	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	578	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGCGCCTCTACCAGGGCGCA	0.697													G	134073029	A	G	134073029	2	3	27	1	0	0	0	0	0	0	0	1	11507	378	14	3		3	PCDH10	4	134073029	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1141	134073029	57081247	2478	26429											
PCDH10	57575	broad.mit.edu	37	chr4	134073742	134073742	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttggctcccaccaccacaAccagaattactgctatcagg	6	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:134073742A>G	uc003iha.2	+	1	3273	c.2447A>G	c.(2446-2448)AAC>AGC	p.N816S	PCDH10_uc003igz.2_Missense_Mutation_p.N816S	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	816	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CACCACCACAACCAGAATTAC	0.577													G	134073742	A	G	134073742	3	3	27	1	0	0	0	0	1	0	0	0	11507	43	2	3	2449	3	PCDH10	4	134073742	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	713	134073742	57080534	2479	26430											
SLC7A11	23657	broad.mit.edu	37	chr4	139103485	139103485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtagaggagtgtgcttgCggacatgaatcatggagagg	17	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:139103485C>T	uc011chb.1	-	9	1362	c.1082G>A	c.(1081-1083)CGC>CAC	p.R361H		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	solute carrier family 7, (cationic amino acid	361	Cytoplasmic (Potential).				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			skin(1)	1	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	AGTGTGCTTGCGGACATGAAT	0.403													T	139103485	C	T	139103485	3	4	27	1	0	0	0	0	1	0	0	0	14694	768	27	1	439	1	SLC7A11	4	139103485	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5029743	139103485	52050791	2480	26431											
NAA15	80155	broad.mit.edu	37	chr4	140265423	140265423	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgggaagcaggtctctatagAgaagctttggaacatctttg	12	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:140265423A>T	uc003ihu.1	+	6	877	c.621A>T	c.(619-621)AGA>AGT	p.R207S		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	NMDA receptor regulated 1	207					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2						GTCTCTATAGAGAAGCTTTGG	0.338													T	140265423	A	T	140265423	3	4	27	1	0	0	0	0	1	0	0	0	10118	301	11	5	643	5	NAA15	4	140265423	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1161938	140265423	50888853	2481	26432											
MAML3	55534	broad.mit.edu	37	chr4	140641423	140641423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgccatcagccgtgacgttCgcatgctctggagggctgct	14	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:140641423C>T	uc003ihz.1	-	7	3208	c.2456G>A	c.(2455-2457)CGA>CAA	p.R819Q	MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.R287Q	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	820	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					CCGTGACGTTCGCATGCTCTG	0.572													T	140641423	C	T	140641423	3	4	27	1	0	0	0	0	1	0	0	0	9207	884	31	1	949	1	MAML3	4	140641423	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	376000	140641423	50512853	2482	26433											
MAML3	55534	broad.mit.edu	37	chr4	140811420	140811420	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaaggtaaactagtggcCgtggagacagtagaaaaggg	15	5	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:140811420C>T	uc003ihz.1	-	2	1922	c.1170G>A	c.(1168-1170)ACG>ACA	p.T390T	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	390					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					AACTAGTGGCCGTGGAGACAG	0.562													T	140811420	C	T	140811420	2	4	27	1	0	0	0	0	0	0	0	1	9207	639	23	1		1	MAML3	4	140811420	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	169997	140811420	50342856	2483	26434											
MAML3	55534	broad.mit.edu	37	chr4	140811851	140811851	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaatctcagggagcctacCattcttacttagatcttcta	5	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:140811851C>A	uc003ihz.1	-	2	1491	c.739G>T	c.(739-741)GGT>TGT	p.G247C	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	247					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					GGGAGCCTACCATTCTTACTT	0.473													A	140811851	C	A	140811851	3	1	27	1	0	0	0	0	1	0	0	0	9207	594	21	5	2685	5	MAML3	4	140811851	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	431	140811851	50342425	2484	26435											
CLGN	1047	broad.mit.edu	37	chr4	141310438	141310438	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccatctccagatcctgtGctctcatctgcttctttcat	6	15	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:141310438G>A	uc011chi.1	-	16	1991	c.1773C>T	c.(1771-1773)AGC>AGT	p.S591S	CLGN_uc003iii.2_Silent_p.S591S	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	591	Cytoplasmic (Potential).				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)					CAGATCCTGTGCTCTCATCTG	0.318													A	141310438	G	A	141310438	2	1	27	1	0	0	0	0	0	0	0	1	3524	1310	46	2		2	CLGN	4	141310438	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	498587	141310438	49843838	2485	26436											
CLGN	1047	broad.mit.edu	37	chr4	141313502	141313502	+	Frame_Shift_Del	DEL	T	T	-													ttgtggtatacatatgtcggTttttttatactctgtatctt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:141313501_141313501GT>G	uc011chi.2	-	13	1741	c.1523_1523AC>C	c.(1522-1524)accfs	p.T508fs	CLGN_uc003iii.3_Frame_Shift_Del_p.T508fs	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	508					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					ACATATGTCGGTTTTTTTATA	0.328													-	141313502	T	-	141313502	7	5	27	1	0	1	0	1	0	0	0	0	3524	1725	60	0	322	0	CLGN	4	141313502	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	3064	141313502	49840774	2486	26437											
CLGN	1047	broad.mit.edu	37	chr4	141317342	141317342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttgaatcttctatttggGcaggttcactttcatccctg	7	11	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:141317342G>A	uc011chi.1	-	10	1120	c.902C>T	c.(901-903)GCC>GTC	p.A301V	CLGN_uc003iii.2_Missense_Mutation_p.A301V	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	301	Lumenal (Potential).				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)					TTCTATTTGGGCAGGTTCACT	0.338													A	141317342	G	A	141317342	3	1	27	1	0	0	0	0	1	0	0	0	3524	1203	42	2	958	2	CLGN	4	141317342	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3840	141317342	49836934	2487	26438											
CLGN	1047	broad.mit.edu	37	chr4	141321662	141321662	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctccacatttatctggTccaaacataatgatatagga	5	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:141321662T>C	uc011chi.1	-	8	761	c.543A>G	c.(541-543)GGA>GGG	p.G181G	CLGN_uc003iii.2_Silent_p.G181G	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	181	Lumenal (Potential).				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)					ATTTATCTGGTCCAAACATAA	0.338													C	141321662	T	C	141321662	2	2	27	1	0	0	0	0	0	0	0	1	3524	1654	58	3		3	CLGN	4	141321662	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4320	141321662	49832614	2488	26439											
RNF150	57484	broad.mit.edu	37	chr4	142053845	142053845	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgttcacgaaggcggtgtAccattcctccttctcggcca	10	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:142053845A>G	uc003iio.1	-	1	772	c.118T>C	c.(118-120)TAC>CAC	p.Y40H	RNF150_uc010iok.1_Missense_Mutation_p.Y40H|RNF150_uc003iip.1_Missense_Mutation_p.Y40H	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	ring finger protein 150 precursor	40	Extracellular (Potential).					integral to membrane	zinc ion binding			ovary(1)	1	all_hematologic(180;0.162)					AAGGCGGTGTACCATTCCTCC	0.428													G	142053845	A	G	142053845	3	3	27	1	0	0	0	0	1	0	0	0	13451	391	14	3	1226	3	RNF150	4	142053845	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	732183	142053845	49100431	2489	26440											
INPP4B	8821	broad.mit.edu	37	chr4	143067143	143067143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccccacattggcccacaCcctgtcctgaaaaaagcatg	6	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:143067143C>T	uc003iix.3	-	19	2165	c.1570G>A	c.(1570-1572)GTG>ATG	p.V524M	INPP4B_uc003iiw.3_Missense_Mutation_p.V524M|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.V339M|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.V395M	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	524					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					TTGGCCCACACCCTGTCCTGA	0.428													T	143067143	C	T	143067143	3	4	27	1	0	0	0	0	1	0	0	0	7753	507	18	4	1240	4	INPP4B	4	143067143	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1013298	143067143	48087133	2490	26441											
INPP4B	8821	broad.mit.edu	37	chr4	143181673	143181673	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaggtaagttatctttTccgctcacactttccggggc	8	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:143181673T>G	uc003iix.3	-	12	1255	c.660A>C	c.(658-660)GGA>GGC	p.G220G	INPP4B_uc003iiw.3_Silent_p.G220G|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Silent_p.G35G|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Silent_p.G91G	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	220					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					AGTTATCTTTTCCGCTCACAC	0.284													G	143181673	T	G	143181673	2	3	27	1	0	0	0	0	0	0	0	1	7753	1770	62	5		5	INPP4B	4	143181673	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	114530	143181673	47972603	2491	26442											
USP38	84640	broad.mit.edu	37	chr4	144127279	144127279	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttggcgtcttgcttgtctAgactttctggaaaatctgaa	9	8	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:144127279A>G	uc003ijb.2	+	6	1837	c.1303A>G	c.(1303-1305)AGA>GGA	p.R435G	USP38_uc003ija.3_Missense_Mutation_p.R435G|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	435					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)					TTGCTTGTCTAGACTTTCTGG	0.378													G	144127279	A	G	144127279	3	3	27	1	0	0	0	0	1	0	0	0	17066	412	15	3	1325	3	USP38	4	144127279	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	945606	144127279	47026997	2492	26443											
GAB1	2549	broad.mit.edu	37	chr4	144380563	144380563	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgcctttagaaataaaAcctttgccagaatgggaaga	9	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:144380563A>G	uc003ije.2	+	7	1970	c.1611A>G	c.(1609-1611)AAA>AAG	p.K537K	GAB1_uc003ijd.2_Silent_p.K567K|GAB1_uc011chq.1_Silent_p.K434K	NM_002039	NP_002030	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1 isoform b	537	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(2)|lung(1)|skin(1)	4	all_hematologic(180;0.158)					TAGAAATAAAACCTTTGCCAG	0.363													G	144380563	A	G	144380563	2	3	27	1	0	0	0	0	0	0	0	1	6148	40	2	3		3	GAB1	4	144380563	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	253284	144380563	46773713	2493	26444											
SMARCA5	8467	broad.mit.edu	37	chr4	144468578	144468578	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacgagctccaggacatagaGaagattatggctcagattga	11	7	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:144468578G>A	uc003ijg.2	+	21	3156	c.2694G>A	c.(2692-2694)GAG>GAA	p.E898E		NM_003601	NP_003592	O60264	SMCA5_HUMAN	SWI/SNF-related matrix-associated	898					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding			skin(1)	1	all_hematologic(180;0.158)					AGGACATAGAGAAGATTATGG	0.338													A	144468578	G	A	144468578	2	1	27	1	0	0	0	0	0	0	0	1	14771	933	33	4		4	SMARCA5	4	144468578	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	88015	144468578	46685698	2494	26445											
GYPA	2993	broad.mit.edu	37	chr4	145038087	145038087	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caccccaaaaataatgagtgTtatctctacaggagataaag	7	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:145038087T>G	uc003ijo.3	-	5	393	c.277A>C	c.(277-279)ACA>CCA	p.T93P	GYPA_uc003ijn.2_Intron|GYPA_uc011cia.1_RNA|GYPA_uc011cib.1_Missense_Mutation_p.T60P|GYPA_uc003ijp.3_Missense_Mutation_p.T61P|GYPA_uc010ioq.2_Missense_Mutation_p.T80P|GYPA_uc010ior.2_Missense_Mutation_p.T28P|GYPA_uc010ios.1_RNA	NM_002099	NP_002090	P02724	GLPA_HUMAN	glycophorin A precursor	93	Helical.				interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)	2	all_hematologic(180;0.15)					ATAATGAGTGTTATCTCTACA	0.348													G	145038087	T	G	145038087	3	3	27	1	0	0	0	0	1	0	0	0	6908	1725	60	5	187	5	GYPA	4	145038087	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	569509	145038087	46116189	2495	26446											
OTUD4	54726	broad.mit.edu	37	chr4	146059221	146059221	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgttgaaactgaaccacaAtctttagacagatccagatt	6	9	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:146059221A>G	uc003ika.3	-	21	2649	c.2511T>C	c.(2509-2511)GAT>GAC	p.D837D	OTUD4_uc003ijz.3_Silent_p.D836D	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	901							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					CTGAACCACAATCTTTAGACA	0.443													G	146059221	A	G	146059221	2	3	27	1	0	0	0	0	0	0	0	1	11314	98	4	3		3	OTUD4	4	146059221	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1021134	146059221	45095055	2496	26447											
OTUD4	54726	broad.mit.edu	37	chr4	146065564	146065564	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggattgctactctgagaaGctgactgattgactgatgag	12	6	1	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:146065564G>T	uc003ika.3	-	15	1388	c.1250C>A	c.(1249-1251)GCT>GAT	p.A417D	OTUD4_uc003ijz.3_Missense_Mutation_p.A416D	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	481							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					ACTCTGAGAAGCTGACTGATT	0.368													T	146065564	G	T	146065564	3	4	27	1	0	0	0	0	1	0	0	0	11314	971	34	5	1927	5	OTUD4	4	146065564	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	6343	146065564	45088712	2497	26448											
SMAD1	4086	broad.mit.edu	37	chr4	146468016	146468016	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaccgtttctgccttgggCtgctctccaatgttaaccgg	10	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:146468016C>T	uc003ikc.2	+	5	1353	c.937C>T	c.(937-939)CTG>TTG	p.L313L	SMAD1_uc003ikd.2_Silent_p.L313L|SMAD1_uc010iov.2_Silent_p.L313L|SMAD1_uc011cic.1_Silent_p.L274L	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Sma- and Mad-related protein 1	313	MH2.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			ovary(1)	1	all_hematologic(180;0.151)					CTGCCTTGGGCTGCTCTCCAA	0.448													T	146468016	C	T	146468016	2	4	27	1	0	0	0	0	0	0	0	1	14757	796	28	2		2	SMAD1	4	146468016	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	402452	146468016	44686260	2498	26449											
SMAD1	4086	broad.mit.edu	37	chr4	146475083	146475083	+	Frame_Shift_Del	DEL	T	T	-													tagtgggtgtagtctgaaaaTttttaacaaccaagaatttg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:146475082_146475082AT>A	uc003ikc.3	+	5	1560	c.1144_1144AT>A	c.(1144-1146)attfs	p.I382fs	SMAD1_uc003ikd.3_Frame_Shift_Del_p.I382fs|SMAD1_uc010iov.3_Frame_Shift_Del_p.I382fs|SMAD1_uc011cic.2_Frame_Shift_Del_p.I343fs	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Homo sapiens SMAD family member 1 (SMAD1), transcript variant 1, mRNA.	382	MH2.				BMP signaling pathway|SMAD protein complex assembly|embryonic pattern specification|primary miRNA processing|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	I-SMAD binding|co-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					TAGTCTGAAAATTTTTAACAA	0.393													-	146475083	T	-	146475083	7	5	27	1	0	1	0	1	0	0	0	0	14757	1493	52	0	1163	0	SMAD1	4	146475083	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	7067	146475083	44679193	2499	26450											
ZNF827	152485	broad.mit.edu	37	chr4	146770638	146770638	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccggctgggtgatatcgagAcatgggagtcctggatgtca	15	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:146770638A>G	uc003ikn.2	-	6	2105	c.2057T>C	c.(2056-2058)GTC>GCC	p.V686A	ZNF827_uc003ikm.2_Missense_Mutation_p.V686A|ZNF827_uc010iox.2_Missense_Mutation_p.V336A	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	686					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					TGATATCGAGACATGGGAGTC	0.498													G	146770638	A	G	146770638	3	3	27	1	0	0	0	0	1	0	0	0	18177	275	10	3	1208	3	ZNF827	4	146770638	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	295555	146770638	44383638	2500	26451											
ZNF827	152485	broad.mit.edu	37	chr4	146806922	146806922	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccacatactcggaggggTctttcagctttgtgtggttg	14	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:146806922T>C	uc003ikn.2	-	4	1703	c.1655A>G	c.(1654-1656)GAC>GGC	p.D552G	ZNF827_uc003ikm.2_Missense_Mutation_p.D552G|ZNF827_uc010iox.2_Missense_Mutation_p.D202G	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					CTCGGAGGGGTCTTTCAGCTT	0.522													C	146806922	T	C	146806922	3	2	27	1	0	0	0	0	1	0	0	0	18177	1667	58	3	1618	3	ZNF827	4	146806922	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	36284	146806922	44347354	2501	26452											
ARHGAP10	79658	broad.mit.edu	37	chr4	148803060	148803060	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccattgacagaaggttttgTtttgacatagaagctgctga	10	6	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:148803060T>C	uc003ilf.2	+	10	1011	c.1011T>C	c.(1009-1011)TGT>TGC	p.C337C	ARHGAP10_uc003ilg.2_5'UTR	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	337	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			skin(2)|pancreas(1)|lung(1)	4	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GAAGGTTTTGTTTTGACATAG	0.353													C	148803060	T	C	148803060	2	2	27	1	0	0	0	0	0	0	0	1	862	1731	60	3		3	ARHGAP10	4	148803060	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1996138	148803060	42351216	2502	26453											
MAB21L2	10586	broad.mit.edu	37	chr4	151504543	151504543	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgagttcatcacggcgtcggGctatctctcagcgcgtaaga	12	12	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:151504543G>C	uc003ilw.2	+	1	1467	c.362G>C	c.(361-363)GGC>GCC	p.G121A	LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	mab-21-like protein 2	121					nervous system development	nucleus				ovary(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		ACGGCGTCGGGCTATCTCTCA	0.627													C	151504543	G	C	151504543	3	2	27	1	0	0	0	0	1	0	0	0	9142	1203	42	5	364	5	MAB21L2	4	151504543	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2701483	151504543	39649733	2503	26454											
SH3D19	152503	broad.mit.edu	37	chr4	152065098	152065098	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agatgttcatcaagtggagtGataatcttcatttgagacag	10	5	4	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:152065098G>A	uc010ipl.1	-	13	2506	c.1416C>T	c.(1414-1416)ATC>ATT	p.I472I	SH3D19_uc003imb.2_Silent_p.I227I|SH3D19_uc003imc.2_Silent_p.I413I|SH3D19_uc003ime.2_Silent_p.I449I|SH3D19_uc010ipm.2_Silent_p.I449I	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	SH3 domain containing 19 isoform a	472					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			ovary(1)|skin(1)	2	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CAAGTGGAGTGATAATCTTCA	0.403													A	152065098	G	A	152065098	2	1	27	1	0	0	0	0	0	0	0	1	14249	1280	45	4		4	SH3D19	4	152065098	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	560555	152065098	39089178	2504	26455											
TIGD4	201798	broad.mit.edu	37	chr4	153690946	153690946	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attctactcctgcccccagaGcatcagcaaccaaatccaga	5	16	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:153690946G>T	uc003imy.2	-	2	1993	c.1211C>A	c.(1210-1212)GCT>GAT	p.A404D		NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	404					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			ovary(1)	1	all_hematologic(180;0.093)					TGCCCCCAGAGCATCAGCAAC	0.418													T	153690946	G	T	153690946	3	4	27	1	0	0	0	0	1	0	0	0	15895	971	34	5	331	5	TIGD4	4	153690946	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1625848	153690946	37463330	2505	26456											
TRIM2	23321	broad.mit.edu	37	chr4	154191569	154191569	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcaccaacatcccaagtcCtgtggtgcgccagattgaca	10	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:154191569C>A	uc003ing.2	+	2	233	c.32C>A	c.(31-33)CCT>CAT	p.P11H	TRIM2_uc003inh.2_Missense_Mutation_p.P38H|TRIM2_uc003ini.1_Missense_Mutation_p.P29H	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	11						cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		ATCCCAAGTCCTGTGGTGCGC	0.537													A	154191569	C	A	154191569	3	1	27	1	0	0	0	0	1	0	0	0	16491	681	24	5	119	5	TRIM2	4	154191569	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	500623	154191569	36962707	2506	26457											
TRIM2	23321	broad.mit.edu	37	chr4	154216755	154216755	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagagacagtggccacgggCgaggggctgcggcagaccat	17	11	1	2	rs116558260	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:154216755C>T	uc003ing.2	+	6	1197	c.996C>T	c.(994-996)GGC>GGT	p.G332G	TRIM2_uc003inh.2_Silent_p.G359G	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	332	Filamin.					cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TGGCCACGGGCGAGGGGCTGC	0.592													T	154216755	C	T	154216755	2	4	27	1	0	0	0	0	0	0	0	1	16491	755	27	1		1	TRIM2	4	154216755	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	25186	154216755	36937521	2507	26458											
KIAA0922	23240	broad.mit.edu	37	chr4	154508908	154508908	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctaggaagggagtctgggTtttgaagtgatagcacattg	14	4	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:154508908T>G	uc003inm.3	+	15	1546	c.1494T>G	c.(1492-1494)GGT>GGG	p.G498G	KIAA0922_uc010ipp.2_Silent_p.G499G|KIAA0922_uc010ipq.2_Silent_p.G351G|KIAA0922_uc010ips.1_Missense_Mutation_p.V109G	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	498	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				GGAGTCTGGGTTTTGAAGTGA	0.348													G	154508908	T	G	154508908	2	3	27	1	0	0	0	0	0	0	0	1	8201	1712	60	5		5	KIAA0922	4	154508908	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	292153	154508908	36645368	2508	26459											
TLR2	7097	broad.mit.edu	37	chr4	154624623	154624623	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcttcagatctacagagCtatgagccaaaaagtttgaa	9	7	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:154624623C>T	uc003inq.2	+	3	783	c.564C>T	c.(562-564)AGC>AGT	p.S188S	TLR2_uc003inr.2_Silent_p.S188S|TLR2_uc003ins.2_Silent_p.S188S	NM_003264	NP_003255	O60603	TLR2_HUMAN	toll-like receptor 2 precursor	188	LRR 6.|Extracellular (Potential).				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			ovary(1)|lung(1)|breast(1)	3	all_hematologic(180;0.093)	Renal(120;0.117)				ATCTACAGAGCTATGAGCCAA	0.368													T	154624623	C	T	154624623	2	4	27	1	0	0	0	0	0	0	0	1	15948	796	28	2		2	TLR2	4	154624623	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	115715	154624623	36529653	2509	26460											
TLR2	7097	broad.mit.edu	37	chr4	154625730	154625730	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggccaaagtcttgattgaTtggccagcaaattacctgtg	10	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:154625730T>C	uc003inq.2	+	3	1890	c.1671T>C	c.(1669-1671)GAT>GAC	p.D557D	TLR2_uc003inr.2_Silent_p.D557D|TLR2_uc003ins.2_Silent_p.D557D	NM_003264	NP_003255	O60603	TLR2_HUMAN	toll-like receptor 2 precursor	557	Extracellular (Potential).				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			ovary(1)|lung(1)|breast(1)	3	all_hematologic(180;0.093)	Renal(120;0.117)				TCTTGATTGATTGGCCAGCAA	0.522													C	154625730	T	C	154625730	2	2	27	1	0	0	0	0	0	0	0	1	15948	1490	52	3		3	TLR2	4	154625730	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1107	154625730	36528546	2510	26461											
DCHS2	54798	broad.mit.edu	37	chr4	155156833	155156833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgattgaaaagctgctggCgaacactgccaagggtgttc	13	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:155156833C>T	uc003inw.2	-	25	7606	c.7606G>A	c.(7606-7608)GCC>ACC	p.A2536T		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2536					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAGCTGCTGGCGAACACTGCC	0.393													T	155156833	C	T	155156833	3	4	27	1	0	0	0	0	1	0	0	0	4288	768	27	1	1148	1	DCHS2	4	155156833	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	531103	155156833	35997443	2511	26462											
DCHS2	54798	broad.mit.edu	37	chr4	155219718	155219718	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actctaacttgcaggtgtatTacagagctcctaggtggatc	10	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:155219718T>C	uc003inw.2	-	18	4383	c.4383A>G	c.(4381-4383)GTA>GTG	p.V1461V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1461	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCAGGTGTATTACAGAGCTCC	0.473													C	155219718	T	C	155219718	2	2	27	1	0	0	0	0	0	0	0	1	4288	1741	61	3		3	DCHS2	4	155219718	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	62885	155219718	35934558	2512	26463											
FGA	2243	broad.mit.edu	37	chr4	155509977	155509977	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatcgcctctcaaaattTccattatattagtggtcaac	4	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:155509977T>C	uc003iod.1	-	3	390	c.332A>G	c.(331-333)GAA>GGA	p.E111G	FGA_uc003ioe.1_Missense_Mutation_p.E111G|FGA_uc003iof.1_Missense_Mutation_p.E111G	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	111	By similarity.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCTCAAAATTTCCATTATATT	0.269													C	155509977	T	C	155509977	3	2	27	1	0	0	0	0	1	0	0	0	5830	1783	62	3	2328	3	FGA	4	155509977	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	290259	155509977	35644299	2513	26464											
FGA	2243	broad.mit.edu	37	chr4	155510666	155510666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccacaacccttgggccacGcacgcctcctccttcagcta	6	19	1	0	rs121909606		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:155510666G>A	uc003iod.1	-	2	161	c.103C>T	c.(103-105)CGT>TGT	p.R35C	FGA_uc003ioe.1_Missense_Mutation_p.R35C|FGA_uc003iof.1_Missense_Mutation_p.R35C	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	35		Cleavage; by thrombin; to release fibrinopeptide A.	R -> C.|R -> H.		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTTGGGCCACGCACGCCTCCT	0.493													A	155510666	G	A	155510666	3	1	27	1	0	0	0	0	1	0	0	0	5830	1087	38	1	2561	1	FGA	4	155510666	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	689	155510666	35643610	2514	26465											
GUCY1A3	2982	broad.mit.edu	37	chr4	156625120	156625120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcacttcagagaacattgGcaaagcacaaaataaaagaa	7	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:156625120G>A	uc003iov.2	+	5	828	c.292G>A	c.(292-294)GCA>ACA	p.A98T	GUCY1A3_uc003iou.2_Missense_Mutation_p.A98T|GUCY1A3_uc010iqc.2_Missense_Mutation_p.A98T|GUCY1A3_uc003iow.2_Missense_Mutation_p.A98T|GUCY1A3_uc010iqd.2_Missense_Mutation_p.A98T|GUCY1A3_uc003iox.2_Missense_Mutation_p.A98T|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.A98T|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.A98T	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	98					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GAGAACATTGGCAAAGCACAA	0.323													A	156625120	G	A	156625120	3	1	27	1	0	0	0	0	1	0	0	0	6894	1203	42	2	298	2	GUCY1A3	4	156625120	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1114454	156625120	34529156	2515	26466											
GUCY1A3	2982	broad.mit.edu	37	chr4	156629407	156629407	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggaaatctttggaaagagaaGactttgaaaaaacaattgca	9	4	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:156629407G>T	uc003iov.2	+	6	873	c.337G>T	c.(337-339)GAC>TAC	p.D113Y	GUCY1A3_uc003iou.2_Missense_Mutation_p.D113Y|GUCY1A3_uc010iqc.2_Missense_Mutation_p.D113Y|GUCY1A3_uc003iow.2_Missense_Mutation_p.D113Y|GUCY1A3_uc010iqd.2_Missense_Mutation_p.D113Y|GUCY1A3_uc003iox.2_Missense_Mutation_p.D113Y|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.D113Y|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.D113Y	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	113					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GGAAAGAGAAGACTTTGAAAA	0.279													T	156629407	G	T	156629407	3	4	27	1	0	0	0	0	1	0	0	0	6894	942	33	5	347	5	GUCY1A3	4	156629407	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4287	156629407	34524869	2516	26467											
GUCY1A3	2982	broad.mit.edu	37	chr4	156632185	156632185	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaagacatttccattccatTtcatgtttgacaaagatatg	6	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:156632185T>A	uc003iov.2	+	7	1404	c.868T>A	c.(868-870)TTC>ATC	p.F290I	GUCY1A3_uc003iou.2_Missense_Mutation_p.F290I|GUCY1A3_uc010iqc.2_Missense_Mutation_p.F290I|GUCY1A3_uc003iow.2_Missense_Mutation_p.F290I|GUCY1A3_uc010iqd.2_Missense_Mutation_p.F289I|GUCY1A3_uc003iox.2_Missense_Mutation_p.F290I|GUCY1A3_uc003ioz.2_Missense_Mutation_p.F55I|GUCY1A3_uc003ioy.2_Missense_Mutation_p.F290I|GUCY1A3_uc010iqe.2_Missense_Mutation_p.F55I|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.F290I	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	290					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TCCATTCCATTTCATGTTTGA	0.443													A	156632185	T	A	156632185	3	1	27	1	0	0	0	0	1	0	0	0	6894	1841	64	5	882	5	GUCY1A3	4	156632185	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2778	156632185	34522091	2517	26468											
GUCY1B3	2983	broad.mit.edu	37	chr4	156723547	156723547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgagctgcggcacaagcGtccagtgcctgccaaaagat	11	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:156723547G>A	uc003ipc.2	+	10	1396	c.1229G>A	c.(1228-1230)CGT>CAT	p.R410H	GUCY1B3_uc011cio.1_Missense_Mutation_p.R432H|GUCY1B3_uc011cip.1_Missense_Mutation_p.R390H|GUCY1B3_uc003ipd.2_Missense_Mutation_p.R338H|GUCY1B3_uc010iqf.2_Intron|GUCY1B3_uc010iqg.2_Missense_Mutation_p.R381H|GUCY1B3_uc011ciq.1_Missense_Mutation_p.R338H	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	410					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CGGCACAAGCGTCCAGTGCCT	0.488													A	156723547	G	A	156723547	3	1	27	1	0	0	0	0	1	0	0	0	6895	1145	40	1	1267	1	GUCY1B3	4	156723547	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	91362	156723547	34430729	2518	26469											
CTSO	1519	broad.mit.edu	37	chr4	156858514	156858514	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taatacaataagatctttacCtgaagtcatatgcagaataa	5	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:156858514C>A	uc003ipg.2	-	5	723	c.674G>T	c.(673-675)AGT>ATT	p.S225I		NM_001334	NP_001325	P43234	CATO_HUMAN	cathepsin O preproprotein	225					proteolysis	lysosome	cysteine-type endopeptidase activity				0	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		AGATCTTTACCTGAAGTCATA	0.294													A	156858514	C	A	156858514	3	1	27	1	0	0	0	0	1	0	0	0	4040	695	24	5	307	5	CTSO	4	156858514	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	134967	156858514	34295762	2519	26470											
GRIA2	2891	broad.mit.edu	37	chr4	158284014	158284014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacatccttgtcgggggcCttggtttggcaatgctggtg	14	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:158284014C>T	uc003ipm.3	+	15	2929	c.2470C>T	c.(2470-2472)CTT>TTT	p.L824F	GRIA2_uc011cit.1_Missense_Mutation_p.L777F|GRIA2_uc003ipl.3_Missense_Mutation_p.L824F|GRIA2_uc003ipk.3_Missense_Mutation_p.L777F|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	824	Helical; (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGTCGGGGGCCTTGGTTTGGC	0.468													T	158284014	C	T	158284014	3	4	27	1	0	0	0	0	1	0	0	0	6768	681	24	4	2647	4	GRIA2	4	158284014	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1425500	158284014	32870262	2520	26471											
FAM198B	51313	broad.mit.edu	37	chr4	159052070	159052070	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgctagagccgcagaacctTggtcatcacattttggcctc	10	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:159052070T>C	uc003ipp.3	-	4	1672	c.1220A>G	c.(1219-1221)CAA>CGA	p.Q407R	FAM198B_uc003ipq.3_Missense_Mutation_p.Q415R|FAM198B_uc003ipr.3_Missense_Mutation_p.Q407R	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	407	Extracellular (Potential).					Golgi membrane|integral to membrane					0						CGCAGAACCTTGGTCATCACA	0.423													C	159052070	T	C	159052070	3	2	27	1	0	0	0	0	1	0	0	0	5529	1812	63	3	347	3	FAM198B	4	159052070	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	768056	159052070	32102206	2521	26472											
PPID	5481	broad.mit.edu	37	chr4	159640370	159640370	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttcaaatttttcaccatAaatactttctccacctgtcc	1	13	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:159640370A>G	uc003iqc.2	-	3	407	c.295T>C	c.(295-297)TAT>CAT	p.Y99H		NM_005038	NP_005029	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	99	PPIase cyclophilin-type.				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		TTTTCACCATAAATACTTTCT	0.308													G	159640370	A	G	159640370	3	3	27	1	0	0	0	0	1	0	0	0	12321	362	13	3	849	3	PPID	4	159640370	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	588300	159640370	31513906	2522	26473											
RAPGEF2	9693	broad.mit.edu	37	chr4	160252876	160252876	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaccatcccgagaagctcCtttgccttttatcttacttg	5	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:160252876C>A	uc003iqg.3	+	9	1497	c.1187C>A	c.(1186-1188)CCT>CAT	p.P396H		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	396	PDZ.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CGAGAAGCTCCTTTGCCTTTT	0.428													A	160252876	C	A	160252876	3	1	27	1	0	0	0	0	1	0	0	0	13044	681	24	5	1221	5	RAPGEF2	4	160252876	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	612506	160252876	30901400	2523	26474											
RAPGEF2	9693	broad.mit.edu	37	chr4	160264153	160264153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctaaacctggcaccagtgGcaagactgcgaacgacctgg	12	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:160264153G>A	uc003iqg.3	+	15	2768	c.2458G>A	c.(2458-2460)GCA>ACA	p.A820T		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	820	Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GGCACCAGTGGCAAGACTGCG	0.378													A	160264153	G	A	160264153	3	1	27	1	0	0	0	0	1	0	0	0	13044	1203	42	2	2516	2	RAPGEF2	4	160264153	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	11277	160264153	30890123	2524	26475											
TKTL2	84076	broad.mit.edu	37	chr4	164393149	164393149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatatcaggctccctggagaCagctgcacaaacagcttctc	9	13	2	1	rs140731828		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:164393149C>T	uc003iqp.3	-	1	1899	c.1738G>A	c.(1738-1740)GTC>ATC	p.V580I		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	580						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCCCTGGAGACAGCTGCACAA	0.512													T	164393149	C	T	164393149	3	4	27	1	0	0	0	0	1	0	0	0	15933	478	17	4	146	4	TKTL2	4	164393149	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4128996	164393149	26761127	2525	26476											
KLHL2	11275	broad.mit.edu	37	chr4	166232671	166232671	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatgagtggtttcatgtagcTcccatgaatacaaggaggag	12	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:166232671T>A	uc003irb.2	+	11	1552	c.1293T>A	c.(1291-1293)GCT>GCA	p.A431A	KLHL2_uc011cjm.1_Silent_p.A435A|KLHL2_uc003irc.2_Silent_p.A343A|KLHL2_uc010ira.2_Silent_p.A84A	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	431	Kelch 3.				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TTCATGTAGCTCCCATGAATA	0.403													A	166232671	T	A	166232671	2	1	27	1	0	0	0	0	0	0	0	1	8374	1538	54	5		5	KLHL2	4	166232671	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1839522	166232671	24921605	2526	26477											
TLL1	7092	broad.mit.edu	37	chr4	166913959	166913959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccttttattctttaaggtgGacttggagaccatgctatgt	9	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:166913959G>T	uc003irh.1	+	3	931	c.284G>T	c.(283-285)GGA>GTA	p.G95V	TLL1_uc011cjn.1_Missense_Mutation_p.G95V|TLL1_uc011cjo.1_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	95					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTTTAAGGTGGACTTGGAGAC	0.348													T	166913959	G	T	166913959	3	4	27	1	0	0	0	0	1	0	0	0	15942	1174	41	5	294	5	TLL1	4	166913959	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	681288	166913959	24240317	2527	26478											
TLL1	7092	broad.mit.edu	37	chr4	166924671	166924671	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttttggcatgaacacacaaGaccagatcgagataaccacg	8	11	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:166924671G>A	uc003irh.1	+	6	1408	c.761G>A	c.(760-762)AGA>AAA	p.R254K	TLL1_uc011cjn.1_Missense_Mutation_p.R254K|TLL1_uc011cjo.1_Missense_Mutation_p.R78K	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	254	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAACACACAAGACCAGATCGA	0.423													A	166924671	G	A	166924671	3	1	27	1	0	0	0	0	1	0	0	0	15942	942	33	4	783	4	TLL1	4	166924671	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	10712	166924671	24229605	2528	26479											
SPOCK3	50859	broad.mit.edu	37	chr4	167656082	167656082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcatcaatcaaatgtatAcatcatggtcatcaccacca	4	12	6	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:167656082A>G	uc003iri.1	-	12	1442	c.1301T>C	c.(1300-1302)GTA>GCA	p.V434A	SPOCK3_uc011cjp.1_Missense_Mutation_p.V391A|SPOCK3_uc011cjq.1_Missense_Mutation_p.V443A|SPOCK3_uc011cjr.1_Missense_Mutation_p.V314A|SPOCK3_uc003irj.1_Missense_Mutation_p.V431A|SPOCK3_uc011cjs.1_Missense_Mutation_p.V383A|SPOCK3_uc011cjt.1_Missense_Mutation_p.V342A|SPOCK3_uc011cju.1_Missense_Mutation_p.V327A|SPOCK3_uc011cjv.1_Missense_Mutation_p.V336A	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN	testican 3 isoform 2	434	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		tcaaatgtatacatcatggtc	0.08													G	167656082	A	G	167656082	3	3	27	1	0	0	0	0	1	0	0	0	15080	391	14	3	13	3	SPOCK3	4	167656082	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	731411	167656082	23498194	2529	26480											
SPOCK3	50859	broad.mit.edu	37	chr4	167675702	167675702	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccactcattattagatatTaaactgtccttgtatgtgtc	5	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:167675702T>A	uc003iri.1	-	9	1038	c.897A>T	c.(895-897)TTA>TTT	p.L299F	SPOCK3_uc011cjp.1_Missense_Mutation_p.L256F|SPOCK3_uc011cjq.1_Missense_Mutation_p.L308F|SPOCK3_uc011cjr.1_Missense_Mutation_p.L179F|SPOCK3_uc003irj.1_Missense_Mutation_p.L296F|SPOCK3_uc011cjs.1_Missense_Mutation_p.L248F|SPOCK3_uc011cjt.1_Missense_Mutation_p.L207F|SPOCK3_uc011cju.1_Missense_Mutation_p.L192F|SPOCK3_uc011cjv.1_Missense_Mutation_p.L201F|SPOCK3_uc003irk.3_Missense_Mutation_p.L296F	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN	testican 3 isoform 2	299					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TATTAGATATTAAACTGTCCT	0.393													A	167675702	T	A	167675702	3	1	27	1	0	0	0	0	1	0	0	0	15080	1751	61	5	429	5	SPOCK3	4	167675702	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	19620	167675702	23478574	2530	26481											
ANXA10	11199	broad.mit.edu	37	chr4	169099117	169099117	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcctgtgcaacaagagctAccagcagctgcggctgggta	13	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:169099117A>G	uc003irm.2	+	8	756	c.611A>G	c.(610-612)TAC>TGC	p.Y204C	ANXA10_uc003irn.2_Missense_Mutation_p.Y76C	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	annexin A10	204	Annexin 3.						calcium ion binding|calcium-dependent phospholipid binding				0		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AACAAGAGCTACCAGCAGCTG	0.448													G	169099117	A	G	169099117	3	3	27	1	0	0	0	0	1	0	0	0	715	391	14	3	641	3	ANXA10	4	169099117	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1423415	169099117	22055159	2531	26482											
DDX60	55601	broad.mit.edu	37	chr4	169176911	169176911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttttcgaagtttgttagCcatgacatgggcttctttat	8	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:169176911C>T	uc003irp.2	-	26	3800	c.3508G>A	c.(3508-3510)GCT>ACT	p.A1170T		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1170							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGTTTGTTAGCCATGACATGG	0.373													T	169176911	C	T	169176911	3	4	27	1	0	0	0	0	1	0	0	0	4378	739	26	2	1682	2	DDX60	4	169176911	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	77794	169176911	21977365	2532	26483											
DDX60	55601	broad.mit.edu	37	chr4	169176992	169176992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagtgctcacactttcagCtgcgttttctacagctccta	7	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:169176992C>T	uc003irp.2	-	26	3719	c.3427G>A	c.(3427-3429)GCT>ACT	p.A1143T		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1143							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ACACTTTCAGCTGCGTTTTCT	0.373													T	169176992	C	T	169176992	3	4	27	1	0	0	0	0	1	0	0	0	4378	797	28	2	1763	2	DDX60	4	169176992	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	81	169176992	21977284	2533	26484											
DDX60L	91351	broad.mit.edu	37	chr4	169294923	169294923	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctcatcaagtgagacAcgagttgggagtcttcacat	11	9	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:169294923A>G	uc003irq.3	-	35	4891	c.4670T>C	c.(4669-4671)GTG>GCG	p.V1557A		NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1557							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CAAGTGAGACACGAGTTGGGA	0.408													G	169294923	A	G	169294923	3	3	27	1	0	0	0	0	1	0	0	0	4379	159	6	3	466	3	DDX60L	4	169294923	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	117931	169294923	21859353	2534	26485											
DDX60L	91351	broad.mit.edu	37	chr4	169322010	169322010	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctcactttttcaagtActtcatctattgcaaagaca	3	11	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:169322010A>G	uc003irq.3	-	26	3679	c.3458T>C	c.(3457-3459)GTA>GCA	p.V1153A	DDX60L_uc003irr.1_Missense_Mutation_p.V1153A|DDX60L_uc003irs.1_Missense_Mutation_p.V848A	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1153							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTTTTCAAGTACTTCATCTAT	0.373													G	169322010	A	G	169322010	3	3	27	1	0	0	0	0	1	0	0	0	4379	391	14	3	1714	3	DDX60L	4	169322010	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	27087	169322010	21832266	2535	26486											
PALLD	23022	broad.mit.edu	37	chr4	169433123	169433123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaacgtaaagcccaaaacGccacatcaaagaaagggtgg	9	10	1	1	rs146108255		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:169433123G>A	uc011cjx.1	+	2	679	c.468G>A	c.(466-468)ACG>ACA	p.T156T	PALLD_uc003iru.2_Silent_p.T156T	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN	palladin isoform 2	156					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			ovary(1)	1		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AGCCCAAAACGCCACATCAAA	0.517									Pancreatic_Cancer_Familial_Clustering_of				A	169433123	G	A	169433123	2	1	27	1	0	0	0	0	0	0	0	1	11407	1074	38	1		1	PALLD	4	169433123	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	111113	169433123	21721153	2536	26487											
CLCN3	1182	broad.mit.edu	37	chr4	170613350	170613350	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaccatcacattagtcctggCtgtggcatcaggtttgagtt	10	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:170613350C>A	uc003isi.2	+	7	1324	c.815C>A	c.(814-816)GCT>GAT	p.A272D	CLCN3_uc003ish.2_Missense_Mutation_p.A272D|CLCN3_uc011cjz.1_Missense_Mutation_p.A255D|CLCN3_uc011cka.1_Missense_Mutation_p.A272D|CLCN3_uc003isj.1_Missense_Mutation_p.A245D	NM_001829	NP_001820	P51790	CLCN3_HUMAN	chloride channel 3 isoform b	272	Helical; (By similarity).				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TTAGTCCTGGCTGTGGCATCA	0.388													A	170613350	C	A	170613350	3	1	27	1	0	0	0	0	1	0	0	0	3464	797	28	5	837	5	CLCN3	4	170613350	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1180227	170613350	20540926	2537	26488											
C4orf27	54969	broad.mit.edu	37	chr4	170663209	170663209	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctatgtttttcaagagatTgattttctttttatccgtta	5	5	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:170663209T>C	uc003isl.3	-	5	612	c.547A>G	c.(547-549)AAT>GAT	p.N183D		NM_017867	NP_060337	Q9NWY4	CD027_HUMAN	hypothetical protein LOC54969	183						nucleus				ovary(1)|pancreas(1)	2		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		TTCAAGAGATTGATTTTCTTT	0.358													C	170663209	T	C	170663209	3	2	27	1	0	0	0	0	1	0	0	0	2258	1812	63	3	509	3	C4orf27	4	170663209	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	49859	170663209	20491067	2538	26489											
AADAT	51166	broad.mit.edu	37	chr4	171010811	171010811	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagggtttctggctgcgcTcgctgccgtgatgaaccgtg	15	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:171010811T>C	uc003isr.2	-	1	373	c.31A>G	c.(31-33)AGC>GGC	p.S11G	AADAT_uc003iss.2_Missense_Mutation_p.S11G|AADAT_uc003ist.2_Missense_Mutation_p.S11G	NM_016228	NP_057312	Q8N5Z0	AADAT_HUMAN	kynurenine aminotransferase II	11					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity				0		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTGGCTGCGCTCGCTGCCGTG	0.542											OREG0016403	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	171010811	T	C	171010811	3	2	27	1	0	0	0	0	1	0	0	0	14	1551	54	3	1298	3	AADAT	4	171010811	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	347602	171010811	20143465	2539	26490											
WDR17	116966	broad.mit.edu	37	chr4	177071675	177071675	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgataaaaggacaggaTgatagcttacttcctcagaa	10	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:177071675T>C	uc003iuj.2	+	17	2463	c.2307T>C	c.(2305-2307)GAT>GAC	p.D769D	WDR17_uc003iuk.2_Silent_p.D745D|WDR17_uc003ium.3_Silent_p.D745D|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_5'UTR	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	769										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		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;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AAGGACAGGATGATAGCTTAC	0.333													C	177071675	T	C	177071675	2	2	27	1	0	0	0	0	0	0	0	1	17274	1461	51	3		3	WDR17	4	177071675	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	6060864	177071675	14082601	2540	26491											
ODZ3	55714	broad.mit.edu	37	chr4	183575044	183575044	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcattaccttctggagacaAtggtaagcgaaagaattatg	10	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:183575044A>G	uc003ivd.1	+	5	1146	c.1109A>G	c.(1108-1110)AAT>AGT	p.N370S		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	370	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TCTGGAGACAATGGTAAGCGA	0.368													G	183575044	A	G	183575044	3	3	27	1	0	0	0	0	1	0	0	0	10836	101	4	3	1127	3	ODZ3	4	183575044	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	6503369	183575044	7579232	2541	26492											
ODZ3	55714	broad.mit.edu	37	chr4	183652077	183652077	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctctctaactttggtatttGaacgatccccattcctcact	4	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:183652077G>A	uc003ivd.1	+	15	2789	c.2752G>A	c.(2752-2754)GAA>AAA	p.E918K	ODZ3_uc003ive.1_Missense_Mutation_p.E324K	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	918	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TTTGGTATTTGAACGATCCCC	0.408													A	183652077	G	A	183652077	3	1	27	1	0	0	0	0	1	0	0	0	10836	1291	45	4	2810	4	ODZ3	4	183652077	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	77033	183652077	7502199	2542	26493											
IRF2	3660	broad.mit.edu	37	chr4	185309962	185309962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccgatgttttcttgatgaCgctggcccgggtctcccggt	12	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:185309962C>T	uc003iwf.3	-	9	1200	c.1000G>A	c.(1000-1002)GTC>ATC	p.V334I		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	334					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TTCTTGATGACGCTGGCCCGG	0.572													T	185309962	C	T	185309962	3	4	27	1	0	0	0	0	1	0	0	0	7828	536	19	1	53	1	IRF2	4	185309962	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1657885	185309962	5844314	2543	26494											
IRF2	3660	broad.mit.edu	37	chr4	185329430	185329430	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgactcaactggttcttgCtaggaagaagaaaagaaaaa	10	5	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:185329430C>T	uc003iwf.3	-	6	612	c.412_splice	c.e6-1	p.Q138_splice		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2						blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CTGGTTCTTGCTAGGAAGAAG	0.408													T	185329430	C	T	185329430	5	4	27	1	0	0	0	0	0	0	1	0	7828	811	28	2	654	2	IRF2	4	185329430	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	19468	185329430	5824846	2544	26495											
IRF2	3660	broad.mit.edu	37	chr4	185340707	185340707	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgcatgcatccaggggatctGaaaaatcttcttttcctgaa	8	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:185340707G>A	uc003iwf.3	-	3	303	c.103C>T	c.(103-105)CAG>TAG	p.Q35*		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	35	IRF tryptophan pentad repeat.				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CAGGGGATCTGAAAAATCTTC	0.423													A	185340707	G	A	185340707	4	1	27	1	0	0	0	0	0	1	0	0	7828	1299	45	4	974	4	IRF2	4	185340707	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	11277	185340707	5813569	2545	26496											
CCDC111	201973	broad.mit.edu	37	chr4	185593326	185593326	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gataatagcttttttccttaGgtaattttttgagaaaaatt	6	3	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:185593326G>T	uc003iwk.2	+	7	990	c.557_splice	c.e7-1	p.G186_splice	CCDC111_uc010isd.1_Splice_Site|CCDC111_uc003iwj.2_Splice_Site_p.G186_splice|CCDC111_uc003iwl.2_Splice_Site_p.G186_splice|CCDC111_uc003iwm.2_Splice_Site_p.G57_splice|CCDC111_uc003iwn.2_Splice_Site_p.G11_splice	NM_152683	NP_689896	Q96LW4	CC111_HUMAN	coiled-coil domain containing 111						DNA replication, synthesis of RNA primer		DNA primase activity			central_nervous_system(1)	1		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		TTTTTCCTTAGGTAATTTTTT	0.413													T	185593326	G	T	185593326	5	4	27	1	0	0	0	0	0	0	1	0	2748	1014	35	5	574	5	CCDC111	4	185593326	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	252619	185593326	5560950	2546	26497											
HELT	391723	broad.mit.edu	37	chr4	185941859	185941859	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggaccggcattacctcaAcctgatcggccacgcgcacc	9	18	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:185941859A>G	uc011ckq.1	+	4	917	c.917A>G	c.(916-918)AAC>AGC	p.N306S	HELT_uc011cko.1_Missense_Mutation_p.N221S|HELT_uc003ixa.3_Missense_Mutation_p.N220S|HELT_uc011ckp.1_Missense_Mutation_p.N164S	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	HES/HEY-like transcription factor	306							DNA binding				0		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CATTACCTCAACCTGATCGGC	0.687													G	185941859	A	G	185941859	3	3	27	1	0	0	0	0	1	0	0	0	7048	43	2	3	931	3	HELT	4	185941859	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	348533	185941859	5212417	2547	26498											
SLC25A4	291	broad.mit.edu	37	chr4	186065961	186065961	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctgagaagcagtacaAagggatcattgattgtgtgg	14	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:186065961A>G	uc003ixd.2	+	2	284	c.155A>G	c.(154-156)AAA>AGA	p.K52R	SLC25A4_uc003ixe.2_RNA	NM_001151	NP_001142	P12235	ADT1_HUMAN	adenine nucleotide translocator 1	52	Solcar 1.				energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding			ovary(1)	1		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	AAGCAGTACAAAGGGATCATT	0.557													G	186065961	A	G	186065961	3	3	27	1	0	0	0	0	1	0	0	0	14504	14	1	3	161	3	SLC25A4	4	186065961	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	124102	186065961	5088315	2548	26499											
SNX25	83891	broad.mit.edu	37	chr4	186253808	186253808	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaccaatcagatcaatgaAcaagccagttttgctgtaaa	8	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:186253808A>C	uc003ixh.2	+	10	1506	c.1317A>C	c.(1315-1317)GAA>GAC	p.E439D	SNX25_uc010ish.2_Missense_Mutation_p.E210D|SNX25_uc003ixi.2_5'UTR	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	439	Potential.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AGATCAATGAACAAGCCAGTT	0.413													C	186253808	A	C	186253808	3	2	27	1	0	0	0	0	1	0	0	0	14896	40	2	5	1351	5	SNX25	4	186253808	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	187847	186253808	4900468	2549	26500											
LRP2BP	55805	broad.mit.edu	37	chr4	186294059	186294059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatttcatcttatagtaatActccacgagattcccttgag	5	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:186294059A>G	uc003ixj.1	-	6	1566	c.754T>C	c.(754-756)TAT>CAT	p.Y252H	LRP2BP_uc003ixk.1_Missense_Mutation_p.Y226H|LRP2BP_uc011ckr.1_Missense_Mutation_p.Y252H	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	252	Sel1-like 5.					cytoplasm	protein binding				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TTATAGTAATACTCCACGAGA	0.343													G	186294059	A	G	186294059	3	3	27	1	0	0	0	0	1	0	0	0	8957	391	14	3	301	3	LRP2BP	4	186294059	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	40251	186294059	4860217	2550	26501											
CCDC110	256309	broad.mit.edu	37	chr4	186381022	186381022	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtttgatagaatggcaaatgTcatctaaattttcacaaaat	6	5	3	2	rs143728634		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:186381022T>A	uc003ixu.3	-	6	795	c.719A>T	c.(718-720)GAC>GTC	p.D240V	CCDC110_uc003ixv.3_Missense_Mutation_p.D203V|CCDC110_uc011ckt.1_Missense_Mutation_p.D240V	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	240						nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		ATGGCAAATGTCATCTAAATT	0.363													A	186381022	T	A	186381022	3	1	27	1	0	0	0	0	1	0	0	0	2747	1667	58	5	1790	5	CCDC110	4	186381022	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	86963	186381022	4773254	2551	26502											
CCDC110	256309	broad.mit.edu	37	chr4	186382236	186382236	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgcgcgtgccaaacaccagAtttttttctgagctaaattg	8	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:186382236A>T	uc003ixu.3	-	5	391	c.315T>A	c.(313-315)AAT>AAA	p.N105K	CCDC110_uc003ixv.3_Intron|CCDC110_uc011ckt.1_Missense_Mutation_p.N105K	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	105						nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CAAACACCAGATTTTTTTCTG	0.318													T	186382236	A	T	186382236	3	4	27	1	0	0	0	0	1	0	0	0	2747	330	12	5	2198	5	CCDC110	4	186382236	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1214	186382236	4772040	2552	26503											
SORBS2	8470	broad.mit.edu	37	chr4	186533060	186533060	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggaaacagggaagatgccTtgtctgttggttcctgggat	14	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:186533060T>C	uc003iyl.2	-	18	3816	c.2958A>G	c.(2956-2958)CAA>CAG	p.Q986Q	SORBS2_uc003iyh.2_Silent_p.Q710Q|SORBS2_uc011ckw.1_Silent_p.Q547Q|SORBS2_uc003iyi.2_Silent_p.Q617Q|SORBS2_uc011ckx.1_Silent_p.Q552Q|SORBS2_uc003iyk.2_Silent_p.Q530Q|SORBS2_uc003iym.2_Silent_p.Q1086Q|SORBS2_uc003iyn.1_Silent_p.Q577Q|SORBS2_uc011cku.1_Silent_p.Q378Q|SORBS2_uc011ckv.1_Silent_p.Q890Q|SORBS2_uc003iyd.2_Silent_p.Q685Q|SORBS2_uc003iye.2_Silent_p.Q559Q|SORBS2_uc003iya.2_Silent_p.Q506Q|SORBS2_uc003iyb.2_Silent_p.Q459Q|SORBS2_uc003iyc.2_Silent_p.Q439Q|SORBS2_uc003iyg.2_Silent_p.Q1100Q|SORBS2_uc003iyf.2_Silent_p.Q522Q|SORBS2_uc003iyo.1_Silent_p.Q435Q	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	986	SH3 2.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GGAAGATGCCTTGTCTGTTGG	0.413													C	186533060	T	C	186533060	2	2	27	1	0	0	0	0	0	0	0	1	14928	1606	56	3		3	SORBS2	4	186533060	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	150824	186533060	4621216	2553	26504											
SORBS2	8470	broad.mit.edu	37	chr4	186544479	186544479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggactgactagaaaagCaagtttagaaaggccagggt	12	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:186544479C>T	uc003iyl.2	-	13	2950	c.2092G>A	c.(2092-2094)GCT>ACT	p.A698T	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.A798T|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.A602T|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.A812T|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	698						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ACTAGAAAAGCAAGTTTAGAA	0.443													T	186544479	C	T	186544479	3	4	27	1	0	0	0	0	1	0	0	0	14928	710	25	2	1246	2	SORBS2	4	186544479	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	11419	186544479	4609797	2554	26505											
KLKB1	3818	broad.mit.edu	37	chr4	187177156	187177156	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgtttcagaattccaaaaAccaatatgcctaccttccaa	3	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:187177156A>C	uc003iyy.2	+	13	1571	c.1500A>C	c.(1498-1500)AAA>AAC	p.K500N	KLKB1_uc011clc.1_Missense_Mutation_p.K298N|KLKB1_uc011cld.1_Missense_Mutation_p.K462N	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	500	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AATTCCAAAAACCAATATGCC	0.353													C	187177156	A	C	187177156	3	2	27	1	0	0	0	0	1	0	0	0	8412	40	2	5	1546	5	KLKB1	4	187177156	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	632677	187177156	3977120	2555	26506											
KLKB1	3818	broad.mit.edu	37	chr4	187177180	187177180	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatgcctaccttccaaaggTgacacaagcacaatttatac	5	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:187177180T>C	uc003iyy.2	+	13	1595	c.1524T>C	c.(1522-1524)GGT>GGC	p.G508G	KLKB1_uc011clc.1_Silent_p.G306G|KLKB1_uc011cld.1_Silent_p.G470G	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	508	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CTTCCAAAGGTGACACAAGCA	0.348													C	187177180	T	C	187177180	2	2	27	1	0	0	0	0	0	0	0	1	8412	1683	59	3		3	KLKB1	4	187177180	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	24	187177180	3977096	2556	26507											
FAT1	2195	broad.mit.edu	37	chr4	187521118	187521118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcgcagtcttccgtggCcgtcaggaagcagcctggag	16	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:187521118C>T	uc003izf.2	-	22	12225	c.12037G>A	c.(12037-12039)GCC>ACC	p.A4013T	FAT1_uc003ize.2_5'Flank	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4013	Extracellular (Potential).|EGF-like 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TCTTCCGTGGCCGTCAGGAAG	0.522										HNSCC(5;0.00058)			T	187521118	C	T	187521118	3	4	27	1	0	0	0	0	1	0	0	0	5689	739	26	2	1753	2	FAT1	4	187521118	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	343938	187521118	3633158	2557	26508											
FAT1	2195	broad.mit.edu	37	chr4	187524831	187524831	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgtgaacttcccatctgTtacgctgacattgagaaggt	10	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:187524831T>C	uc003izf.2	-	19	11037	c.10849A>G	c.(10849-10851)ACA>GCA	p.T3617A		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3617	Extracellular (Potential).|Cadherin 33.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TTCCCATCTGTTACGCTGACA	0.507										HNSCC(5;0.00058)			C	187524831	T	C	187524831	3	2	27	1	0	0	0	0	1	0	0	0	5689	1725	60	3	2953	3	FAT1	4	187524831	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3713	187524831	3629445	2558	26509											
FAT1	2195	broad.mit.edu	37	chr4	187540078	187540078	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgccggggtttctcgatcAagtttttccaaagtaaatat	8	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:187540078A>C	uc003izf.2	-	10	7850	c.7662T>G	c.(7660-7662)CTT>CTG	p.L2554L		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2554	Extracellular (Potential).|Cadherin 23.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TTTCTCGATCAAGTTTTTCCA	0.403										HNSCC(5;0.00058)			C	187540078	A	C	187540078	2	2	27	1	0	0	0	0	0	0	0	1	5689	117	5	5		5	FAT1	4	187540078	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	15247	187540078	3614198	2559	26510											
FAT1	2195	broad.mit.edu	37	chr4	187541346	187541346	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcagtgaaatttcacccaAgggtccaatttgaaagtgtt	8	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:187541346A>C	uc003izf.2	-	10	6582	c.6394T>G	c.(6394-6396)TTG>GTG	p.L2132V		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2132	Extracellular (Potential).|Cadherin 19.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ATTTCACCCAAGGGTCCAATT	0.423										HNSCC(5;0.00058)			C	187541346	A	C	187541346	3	2	27	1	0	0	0	0	1	0	0	0	5689	69	3	5	7444	5	FAT1	4	187541346	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1268	187541346	3612930	2560	26511											
FAT1	2195	broad.mit.edu	37	chr4	187549799	187549799	+	Missense_Mutation	SNP	A	A	G													tgtttttctcatcctgatccAcagcactgatttgcaaaatt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:187549799A>G	uc003izf.2	-	8	4630	c.4442T>C	c.(4441-4443)GTG>GCG	p.V1481A		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1481	Extracellular (Potential).|Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ATCCTGATCCACAGCACTGAT	0.418										HNSCC(5;0.00058)			G	187549799	A	G	187549799	3	3	27	1	0	0	0	0	1	0	0	0	5689	159	6	3	9404	3	FAT1	4	187549799	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	8453	187549799	3604477	2561	26512	90	2									
FAT1	2195	broad.mit.edu	37	chr4	187549801	187549801	+	Silent	SNP	A	A	G													tttttctcatcctgatccacAgcactgatttgcaaaatttc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:187549801A>G	uc003izf.2	-	8	4628	c.4440T>C	c.(4438-4440)GCT>GCC	p.A1480A		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1480	Extracellular (Potential).|Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CCTGATCCACAGCACTGATTT	0.413										HNSCC(5;0.00058)			G	187549801	A	G	187549801	2	3	27	1	0	0	0	0	0	0	0	1	5689	175	7	3		3	FAT1	4	187549801	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2	187549801	3604475	2562	26513	90	2									
FAT1	2195	broad.mit.edu	37	chr4	187627796	187627796	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctccccatctcttctggcGtcctcatcatgagccgacac	6	17	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:187627796G>A	uc003izf.2	-	2	3374	c.3186C>T	c.(3184-3186)GAC>GAT	p.D1062D	FAT1_uc010iso.1_Silent_p.D1062D	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1062	Extracellular (Potential).|Cadherin 9.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CTCTTCTGGCGTCCTCATCAT	0.468										HNSCC(5;0.00058)			A	187627796	G	A	187627796	2	1	27	1	0	0	0	0	0	0	0	1	5689	1136	40	1		1	FAT1	4	187627796	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	77995	187627796	3526480	2563	26514											
ZFP42	132625	broad.mit.edu	37	chr4	188923990	188923990	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaactgaagaaacgggcaaAgacaagacaccagaaaggcc	11	10	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:188923990A>G	uc003izg.1	+	3	274	c.29A>G	c.(28-30)AAG>AGG	p.K10R	ZFP42_uc003izh.1_Missense_Mutation_p.K10R|ZFP42_uc003izi.1_Missense_Mutation_p.K10R	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	10					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AAACGGGCAAAGACAAGACAC	0.537													G	188923990	A	G	188923990	3	3	27	1	0	0	0	0	1	0	0	0	17647	72	3	3	31	3	ZFP42	4	188923990	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1296194	188923990	2230286	2564	26515											
TUBB4Q	56604	broad.mit.edu	37	chr4	190905503	190905503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatccacgagcacagcgcGggacacgtacctgccacctg	11	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr4:190905503G>A	uc011clg.1	-	3	184	c.181C>T	c.(181-183)CGC>TGC	p.R61C		NM_020040	NP_064424	Q99867	TBB4Q_HUMAN	tubulin, beta polypeptide 4, member Q	62					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)		AGCACAGCGCGGGACACGTAC	0.697													A	190905503	G	A	190905503	3	1	27	1	0	0	0	0	1	0	0	0	16756	1116	39	1	1127	1	TUBB4Q	4	190905503	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1981513	190905503	248773	2565	26516											
PLEKHG4B	153478	broad.mit.edu	37	chr5	169511	169511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagagagggagtacattcGgtgcttaggatacgtcattg	13	7	1	1	rs146749875		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:169511G>A	uc003jak.2	+	12	2515	c.2465G>A	c.(2464-2466)CGG>CAG	p.R822Q		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	822	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GAGTACATTCGGTGCTTAGGA	0.552													A	169511	G	A	169511	3	1	27	1	0	0	0	0	1	0	0	0	12072	1116	39	1	2511	1	PLEKHG4B	5	169511	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08		169511	180745749	2566	26517											
LRRC14B	389257	broad.mit.edu	37	chr5	192330	192330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacaacgtgcggctgcatgCgggccacgtgcagcagcttc	14	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:192330C>T	uc003jal.1	+	1	705	c.677C>T	c.(676-678)GCG>GTG	p.A226V		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	226										skin(1)	1						CGGCTGCATGCGGGCCACGTG	0.711													T	192330	C	T	192330	3	4	27	1	0	0	0	0	1	0	0	0	8969	768	27	1	679	1	LRRC14B	5	192330	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	22819	192330	180722930	2567	26518											
LRRC14B	389257	broad.mit.edu	37	chr5	195116	195116	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcaagttcctcgggaAcccgctgtcggcccgcgccc	11	19	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:195116A>T	uc003jal.1	+	2	1221	c.1193A>T	c.(1192-1194)AAC>ATC	p.N398I		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	398	LRR 5.									skin(1)	1						TTCCTCGGGAACCCGCTGTCG	0.672													T	195116	A	T	195116	3	4	27	1	0	0	0	0	1	0	0	0	8969	43	2	5	1199	5	LRRC14B	5	195116	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2786	195116	180720144	2568	26519											
CCDC127	133957	broad.mit.edu	37	chr5	205460	205460	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcttaaacttcttcagttcGacaacgagttcccagtattt	5	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:205460G>A	uc003jam.1	-	3	835	c.735C>T	c.(733-735)GTC>GTT	p.V245V		NM_145265	NP_660308	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	245											0			all cancers(22;0.0236)|Lung(60;0.113)			TCTTCAGTTCGACAACGAGTT	0.433													A	205460	G	A	205460	2	1	27	1	0	0	0	0	0	0	0	1	2763	1045	37	1		1	CCDC127	5	205460	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	10344	205460	180709800	2569	26520											
SDHA	6389	broad.mit.edu	37	chr5	235410	235410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatccctgtcctccccaccGtgcattataacatgggcggc	9	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:235410G>A	uc003jao.3	+	9	1331	c.1216G>A	c.(1216-1218)GTG>ATG	p.V406M	SDHA_uc003jan.2_Missense_Mutation_p.V406M|SDHA_uc011clv.1_Missense_Mutation_p.V406M|SDHA_uc011clw.1_Missense_Mutation_p.V358M|SDHA_uc003jap.3_Missense_Mutation_p.V406M|SDHA_uc003jaq.3_Missense_Mutation_p.V181M|SDHA_uc003jar.3_Intron	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	406					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCTCCCCACCGTGCATTATAA	0.627									Familial_Paragangliomas				A	235410	G	A	235410	3	1	27	1	0	0	0	0	1	0	0	0	13963	1145	40	1	1250	1	SDHA	5	235410	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	29950	235410	180679850	2570	26521											
PDCD6	10016	broad.mit.edu	37	chr5	306755	306755	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaggccggcgtgaacttcAgcgagttcacgggtgtgtgg	16	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:306755A>G	uc003jat.1	+	4	347	c.247A>G	c.(247-249)AGC>GGC	p.S83G	AHRR_uc003jav.2_Intron|AHRR_uc003jaw.2_Intron|AHRR_uc010isy.2_Intron|PDCD6_uc003jau.1_Missense_Mutation_p.S115G	NM_013232	NP_037364	O75340	PDCD6_HUMAN	programmed cell death 6	83	EF-hand 2.|2 (Potential).				induction of apoptosis by extracellular signals|response to calcium ion	endoplasmic reticulum membrane|nuclear membrane	binding, bridging|calcium ion binding|calcium-dependent protein binding			breast(1)	1			Epithelial(17;0.00193)|OV - Ovarian serous cystadenocarcinoma(19;0.00489)|all cancers(22;0.00511)|Lung(60;0.113)			CGTGAACTTCAGCGAGTTCAC	0.532													G	306755	A	G	306755	3	3	27	1	0	0	0	0	1	0	0	0	11623	188	7	3	261	3	PDCD6	5	306755	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	71345	306755	180608505	2571	26522											
EXOC3	11336	broad.mit.edu	37	chr5	453871	453871	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggagaaaatgttcaccAtcttggagaggactgtgacc	13	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:453871A>G	uc003jba.2	+	4	879	c.751A>G	c.(751-753)ATC>GTC	p.I251V		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Sec6 protein	262					exocytosis|protein transport						0		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AATGTTCACCATCTTGGAGAG	0.483													G	453871	A	G	453871	3	3	27	1	0	0	0	0	1	0	0	0	5303	217	8	3	761	3	EXOC3	5	453871	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	147116	453871	180461389	2572	26523											
CEP72	55722	broad.mit.edu	37	chr5	640603	640603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatggtgggtgaagatgtcGgctccctggctctggagagt	17	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:640603G>A	uc003jbf.2	+	9	1495	c.1423G>A	c.(1423-1425)GGC>AGC	p.G475S		NM_018140	NP_060610	Q9P209	CEP72_HUMAN	centrosomal protein 72 kDa	475					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				ovary(1)	1			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TGAAGATGTCGGCTCCCTGGC	0.567													A	640603	G	A	640603	3	1	27	1	0	0	0	0	1	0	0	0	3260	1116	39	1	1457	1	CEP72	5	640603	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	186732	640603	180274657	2573	26524											
SLC12A7	10723	broad.mit.edu	37	chr5	1073789	1073789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgtgcttgtccaggtacgTcccctccagcaccgagccca	9	17	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:1073789T>C	uc003jbu.2	-	17	2266	c.2200A>G	c.(2200-2202)ACG>GCG	p.T734A		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	734					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCCAGGTACGTCCCCTCCAGC	0.701													C	1073789	T	C	1073789	3	2	27	1	0	0	0	0	1	0	0	0	14388	1667	58	3	1083	3	SLC12A7	5	1073789	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	433186	1073789	179841471	2574	26525											
SLC12A7	10723	broad.mit.edu	37	chr5	1074698	1074698	+	Frame_Shift_Del	DEL	G	G	-													tcacctccagttcttggtgtGggggggaccgtgctccacgc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:1074697_1074697TG>T	uc003jbu.3	-	15	2123	c.2057_2057CA>A	c.(2056-2058)cacfs	p.H686fs		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	686					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GTTCTTGGTGTGGGGGGGACC	0.647													-	1074698	G	-	1074698	7	5	27	1	0	1	0	1	0	0	0	0	14388	1348	47	0	1231	0	SLC12A7	5	1074698	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	909	1074698	179840562	2575	26526											
IRX2	153572	broad.mit.edu	37	chr5	2748698	2748698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggggcggcccagcagcggcGaggcagggtagggcgagcct	22	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:2748698G>A	uc003jda.2	-	3	1366	c.1124C>T	c.(1123-1125)TCG>TTG	p.S375L	IRX2_uc003jdb.2_Missense_Mutation_p.S375L	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	375						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		CAGCAGCGGCGAGGCAGGGTA	0.512													A	2748698	G	A	2748698	3	1	27	1	0	0	0	0	1	0	0	0	7844	1059	37	1	299	1	IRX2	5	2748698	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1674000	2748698	178166562	2576	26527											
IRX2	153572	broad.mit.edu	37	chr5	2749541	2749541	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gccctcctgcgccttgtcggGactctcgtccttgcttctgg	11	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:2749541G>T	uc003jda.2	-	2	852	c.610C>A	c.(610-612)CCC>ACC	p.P204T	C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Missense_Mutation_p.P204T	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	204						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		GCCTTGTCGGGACTCTCGTCC	0.652													T	2749541	G	T	2749541	3	4	27	1	0	0	0	0	1	0	0	0	7844	1174	41	5	817	5	IRX2	5	2749541	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	843	2749541	178165719	2577	26528											
C5orf38	153571	broad.mit.edu	37	chr5	2752744	2752744	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctttcagatttgtgtTgtcaaaacactggggggatg	11	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:2752744T>C	uc003jdc.2	+	2	326	c.209T>C	c.(208-210)TTG>TCG	p.L70S	C5orf38_uc011cmg.1_Missense_Mutation_p.L70S|C5orf38_uc011cmh.1_Intron|C5orf38_uc011cmi.1_Intron|C5orf38_uc011cmj.1_Intron	NM_178569	NP_848664	Q86SI9	CEI_HUMAN	hypothetical protein LOC153571 precursor	70						extracellular region					0				GBM - Glioblastoma multiforme(108;0.205)		AGATTTGTGTTGTCAAAACAC	0.498													C	2752744	T	C	2752744	3	2	27	1	0	0	0	0	1	0	0	0	2296	1821	63	3	215	3	C5orf38	5	2752744	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3203	2752744	178162516	2578	26529											
IRX1	79192	broad.mit.edu	37	chr5	3600783	3600783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttaaagtcgcccttccagcCggtacgcgacaagtgagtgc	12	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:3600783C>T	uc003jde.2	+	3	1425	c.1373C>T	c.(1372-1374)CCG>CTG	p.P458L		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	458						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						CCCTTCCAGCCGGTACGCGAC	0.632													T	3600783	C	T	3600783	3	4	27	1	0	0	0	0	1	0	0	0	7843	652	23	1	1383	1	IRX1	5	3600783	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	848039	3600783	177314477	2579	26530											
KIAA0947	23379	broad.mit.edu	37	chr5	5463038	5463038	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactctgtttctgaatgttcTagtaaaggaaccctaagtaa	8	7	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:5463038T>C	uc003jdm.3	+	13	3813	c.3591T>C	c.(3589-3591)TCT>TCC	p.S1197S		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1197										ovary(1)|central_nervous_system(1)	2						CTGAATGTTCTAGTAAAGGAA	0.388													C	5463038	T	C	5463038	2	2	27	1	0	0	0	0	0	0	0	1	8202	1509	53	3		3	KIAA0947	5	5463038	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1862255	5463038	175452222	2580	26531											
KIAA0947	23379	broad.mit.edu	37	chr5	5463287	5463287	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagattgcaatggtaaAgatactggcagtttattgct	10	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:5463287A>T	uc003jdm.3	+	13	4062	c.3840A>T	c.(3838-3840)AAA>AAT	p.K1280N		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1280										ovary(1)|central_nervous_system(1)	2						GCAATGGTAAAGATACTGGCA	0.383													T	5463287	A	T	5463287	3	4	27	1	0	0	0	0	1	0	0	0	8202	69	3	5	3890	5	KIAA0947	5	5463287	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	249	5463287	175451973	2581	26532											
KIAA0947	23379	broad.mit.edu	37	chr5	5464075	5464075	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctgatcacacatattataActcaaaactagagccatctg	5	10	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:5464075A>G	uc003jdm.3	+	13	4850	c.4628A>G	c.(4627-4629)AAC>AGC	p.N1543S		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1543										ovary(1)|central_nervous_system(1)	2						ACATATTATAACTCAAAACTA	0.363													G	5464075	A	G	5464075	3	3	27	1	0	0	0	0	1	0	0	0	8202	43	2	3	4678	3	KIAA0947	5	5464075	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	788	5464075	175451185	2582	26533											
MED10	84246	broad.mit.edu	37	chr5	6372636	6372636	+	Frame_Shift_Del	DEL	C	C	-													ttaagaaggcgggtgatcctCcccccggatgcttcgatact							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:6372635_6372635TC>T	uc003jdo.3	-	3	432	c.389_389GA>A	c.(388-390)gagfs	p.E130fs		NM_032286	NP_115662	Q9BTT4	MED10_HUMAN	Homo sapiens mediator complex subunit 10 (MED10), mRNA.	130					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						CGGGTGATCCTCCCCCCGGAT	0.498													-	6372636	C	-	6372636	7	5	27	1	0	1	0	1	0	0	0	0	9426	864	30	0	23	0	MED10	5	6372636	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	908561	6372636	174542624	2583	26534											
ADCY2	108	broad.mit.edu	37	chr5	7773061	7773061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtactttatctacagctGcattctgggactgatatcct	7	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:7773061G>A	uc003jdz.1	+	18	2298	c.2231G>A	c.(2230-2232)TGC>TAC	p.C744Y	ADCY2_uc011cmo.1_Missense_Mutation_p.C564Y	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	744	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						ATCTACAGCTGCATTCTGGGA	0.473													A	7773061	G	A	7773061	3	1	27	1	0	0	0	0	1	0	0	0	294	1319	46	2	2301	2	ADCY2	5	7773061	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1400425	7773061	173142199	2584	26535											
SEMA5A	9037	broad.mit.edu	37	chr5	9054308	9054308	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcgggtcctcatatagtgTccaccgccgcatgttgctga	12	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:9054308T>C	uc003jek.2	-	19	3292	c.2580A>G	c.(2578-2580)GGA>GGG	p.G860G		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	860	TSP type-1 6.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						TCATATAGTGTCCACCGCCGC	0.557													C	9054308	T	C	9054308	2	2	27	1	0	0	0	0	0	0	0	1	14037	1654	58	3		3	SEMA5A	5	9054308	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1281247	9054308	171860952	2585	26536											
SEMA5A	9037	broad.mit.edu	37	chr5	9154655	9154655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcttgaccacgtgctcccGcaggcccacgaacaggacac	10	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:9154655G>A	uc003jek.2	-	12	2138	c.1426C>T	c.(1426-1428)CGG>TGG	p.R476W		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	476	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						ACGTGCTCCCGCAGGCCCACG	0.607													A	9154655	G	A	9154655	3	1	27	1	0	0	0	0	1	0	0	0	14037	1086	38	1	1846	1	SEMA5A	5	9154655	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	100347	9154655	171760605	2586	26537											
SEMA5A	9037	broad.mit.edu	37	chr5	9154780	9154780	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggtctgattcaggggtAcccgcactttcttaatggtt	11	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:9154780A>G	uc003jek.2	-	12	2013	c.1301T>C	c.(1300-1302)GTA>GCA	p.V434A		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	434	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						ATTCAGGGGTACCCGCACTTT	0.512													G	9154780	A	G	9154780	3	3	27	1	0	0	0	0	1	0	0	0	14037	391	14	3	1971	3	SEMA5A	5	9154780	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	125	9154780	171760480	2587	26538											
ROPN1L	83853	broad.mit.edu	37	chr5	10464976	10464976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagagacgccaggaagaacGgcatgataggtctttcagat	12	7	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:10464976G>A	uc003jex.3	+	5	881	c.610G>A	c.(610-612)GGC>AGC	p.G204S		NM_031916	NP_114122	Q96C74	ROP1L_HUMAN	ropporin 1-like	204					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			ovary(1)	1						CAGGAAGAACGGCATGATAGG	0.303													A	10464976	G	A	10464976	3	1	27	1	0	0	0	0	1	0	0	0	13525	1116	39	1	628	1	ROPN1L	5	10464976	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1310196	10464976	170450284	2588	26539											
CTNND2	1501	broad.mit.edu	37	chr5	10992687	10992687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggttgttgggagacacgcGcacaggggagatggagggcg	21	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:10992687G>A	uc003jfa.1	-	19	3332	c.3187C>T	c.(3187-3189)CGC>TGC	p.R1063C	CTNND2_uc010itt.2_Missense_Mutation_p.R972C|CTNND2_uc011cmy.1_Missense_Mutation_p.R726C|CTNND2_uc011cmz.1_Missense_Mutation_p.R630C|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.R655C	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1063					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						GGAGACACGCGCACAGGGGAG	0.592													A	10992687	G	A	10992687	3	1	27	1	0	0	0	0	1	0	0	0	4020	1087	38	1	506	1	CTNND2	5	10992687	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	527711	10992687	169922573	2589	26540											
CTNND2	1501	broad.mit.edu	37	chr5	11159707	11159707	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttaggcacccggtggcgtTacgcagcacctgtgatgaat	12	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:11159707T>C	uc003jfa.1	-	12	2285	c.2140A>G	c.(2140-2142)AAC>GAC	p.N714D	CTNND2_uc010itt.2_Missense_Mutation_p.N623D|CTNND2_uc011cmy.1_Missense_Mutation_p.N377D|CTNND2_uc011cmz.1_Missense_Mutation_p.N281D|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.N281D	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	714	ARM 5.				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						CCGGTGGCGTTACGCAGCACC	0.537													C	11159707	T	C	11159707	3	2	27	1	0	0	0	0	1	0	0	0	4020	1754	61	3	1581	3	CTNND2	5	11159707	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	167020	11159707	169755553	2590	26541											
CTNND2	1501	broad.mit.edu	37	chr5	11411702	11411702	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgattcctgtagtgaccTaatacaggagtccaccagct	8	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:11411702T>G	uc003jfa.1	-	5	530	c.385A>C	c.(385-387)AGG>CGG	p.R129R	CTNND2_uc010itt.2_Silent_p.R38R|CTNND2_uc011cmy.1_Silent_p.R38R|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	129					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						TGTAGTGACCTAATACAGGAG	0.388													G	11411702	T	G	11411702	2	3	27	1	0	0	0	0	0	0	0	1	4020	1521	53	5		5	CTNND2	5	11411702	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	251995	11411702	169503558	2591	26542											
DNAH5	1767	broad.mit.edu	37	chr5	13735943	13735943	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtacctggctaaggaaaggtCaaataagcccagaaactggc	11	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:13735943C>A	uc003jfd.2	-	67	11596	c.11554G>T	c.(11554-11556)GAC>TAC	p.D3852Y	DNAH5_uc003jfc.2_Missense_Mutation_p.D20Y	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3852					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)					AAGGAAAGGTCAAATAAGCCC	0.453									Kartagener_syndrome				A	13735943	C	A	13735943	3	1	27	1	0	0	0	0	1	0	0	0	4604	826	29	5	2372	5	DNAH5	5	13735943	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2324241	13735943	167179317	2592	26543											
DNAH5	1767	broad.mit.edu	37	chr5	13759025	13759025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctgcttgtcatccaacTcggcctgggctttctgcaga	10	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:13759025T>C	uc003jfd.2	-	61	10391	c.10349A>G	c.(10348-10350)GAG>GGG	p.E3450G	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3450	Stalk (By similarity).|Potential.				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)					GTCATCCAACTCGGCCTGGGC	0.552									Kartagener_syndrome				C	13759025	T	C	13759025	3	2	27	1	0	0	0	0	1	0	0	0	4604	1551	54	3	3601	3	DNAH5	5	13759025	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	23082	13759025	167156235	2593	26544											
DNAH5	1767	broad.mit.edu	37	chr5	13811930	13811930	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagcgtttcttaagaaaAccctgtcagttcacagacaa	9	9	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:13811930A>C	uc003jfd.2	-	44	7275	c.7233T>G	c.(7231-7233)GGT>GGG	p.G2411G		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2411	AAA 2 (By similarity).				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)					TCTTAAGAAAACCCTGTCAGT	0.373									Kartagener_syndrome				C	13811930	A	C	13811930	2	2	27	1	0	0	0	0	0	0	0	1	4604	30	2	5		5	DNAH5	5	13811930	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	52905	13811930	167103330	2594	26545											
DNAH5	1767	broad.mit.edu	37	chr5	13916508	13916508	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtattatagtaatgagagatActatagatcattttaattgc	7	3	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:13916508A>G	uc003jfd.2	-	9	1188	c.1146T>C	c.(1144-1146)AGT>AGC	p.S382S	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	382	Stem (By similarity).				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)					AATGAGAGATACTATAGATCA	0.323									Kartagener_syndrome				G	13916508	A	G	13916508	2	3	27	1	0	0	0	0	0	0	0	1	4604	388	14	3		3	DNAH5	5	13916508	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	104578	13916508	166998752	2595	26546											
DNAH5	1767	broad.mit.edu	37	chr5	13919383	13919384	+	Frame_Shift_Ins	INS	-	-	T													tagttaaacttggagagtctINSttttttccagtgctccagct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:13919382_13919383C>CT	uc003jfd.2	-	6	919_920	c.877_878G>AG	c.(877-879)agafs	p.R293fs	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	293	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTGGAGAGTCTTTTTTTCCAG	0.52									Kartagener syndrome				T	13919384	-	T	13919383	7	5	27	1	0	1	1	0	0	0	0	0	4604	1617	56	0	13289	0	DNAH5	5	13919383	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	2875	13919383	166995877	2596	26547											
DNAH5	1767	broad.mit.edu	37	chr5	13919401	13919401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttttttccagtgctccaGctccgctcgtggcccaacgt	8	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:13919401G>A	uc003jfd.2	-	7	901	c.859C>T	c.(859-861)CTG>TTG	p.L287L	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	287	Potential.|Stem (By similarity).				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)					CAGTGCTCCAGCTCCGCTCGT	0.532									Kartagener_syndrome				A	13919401	G	A	13919401	2	1	27	1	0	0	0	0	0	0	0	1	4604	962	34	2		2	DNAH5	5	13919401	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	18	13919401	166995859	2597	26548											
TRIO	7204	broad.mit.edu	37	chr5	14485290	14485290	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgcattcatctagtccaaGtgtccggcaaacttggatcc	8	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:14485290G>T	uc003jff.2	+	47	6776	c.6770G>T	c.(6769-6771)AGT>ATT	p.S2257I	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.S1906I	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2257	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					TCTAGTCCAAGTGTCCGGCAA	0.408													T	14485290	G	T	14485290	3	4	27	1	0	0	0	0	1	0	0	0	16549	1029	36	5	6956	5	TRIO	5	14485290	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	565889	14485290	166429970	2598	26549											
TRIO	7204	broad.mit.edu	37	chr5	14492761	14492761	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggatgagatcaacgtctAccaaggagaggtcgttcaaa	13	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:14492761A>G	uc003jff.2	+	49	7724	c.7718A>G	c.(7717-7719)TAC>TGC	p.Y2573C	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2573	SH3 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					ATCAACGTCTACCAAGGAGAG	0.542													G	14492761	A	G	14492761	3	3	27	1	0	0	0	0	1	0	0	0	16549	391	14	3	7912	3	TRIO	5	14492761	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	7471	14492761	166422499	2599	26550											
FAM105B	90268	broad.mit.edu	37	chr5	14681660	14681660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagggccacgctgttccagGccatgagccaggctgtgggg	17	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:14681660G>A	uc003jfk.2	+	4	564	c.412G>A	c.(412-414)GCC>ACC	p.A138T		NM_138348	NP_612357	Q96BN8	F105B_HUMAN	hypothetical protein LOC90268	138										ovary(2)	2	Lung NSC(4;0.00696)					GCTGTTCCAGGCCATGAGCCA	0.557													A	14681660	G	A	14681660	3	1	27	1	0	0	0	0	1	0	0	0	5388	1203	42	2	426	2	FAM105B	5	14681660	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	188899	14681660	166233600	2600	26551											
ANKH	56172	broad.mit.edu	37	chr5	14871519	14871519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaccaagaaccggatcAggggccagtagtgcgtgagc	17	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:14871519A>G	uc003jfm.3	-	1	369	c.38T>C	c.(37-39)CTG>CCG	p.L13P		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	progressive ankylosis protein	13	Cytoplasmic (Potential).				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			upper_aerodigestive_tract(1)	1						GAACCGGATCAGGGGCCAGTA	0.667													G	14871519	A	G	14871519	3	3	27	1	0	0	0	0	1	0	0	0	627	188	7	3	1488	3	ANKH	5	14871519	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	189859	14871519	166043741	2601	26552											
MYO10	4651	broad.mit.edu	37	chr5	16672884	16672884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtattcaaacaaagcaaaCatgttcctgctgtcctccat	5	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:16672884C>T	uc003jft.3	-	37	5691	c.5223G>A	c.(5221-5223)ATG>ATA	p.M1741I	MYO10_uc011cnb.1_Missense_Mutation_p.M370I|MYO10_uc011cnc.1_Missense_Mutation_p.M620I|MYO10_uc011cnd.1_Missense_Mutation_p.M1098I|MYO10_uc011cne.1_Missense_Mutation_p.M1098I|MYO10_uc010itx.2_Missense_Mutation_p.M1363I	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1741	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						ACAAAGCAAACATGTTCCTGC	0.522													T	16672884	C	T	16672884	3	4	27	1	0	0	0	0	1	0	0	0	10062	478	17	4	973	4	MYO10	5	16672884	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1801365	16672884	164242376	2602	26553											
MYO10	4651	broad.mit.edu	37	chr5	16694699	16694699	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttgaggacgcaccagcggCgtttccaagagttcatcagg	12	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:16694699C>A	uc003jft.3	-	27	4049	c.3581G>T	c.(3580-3582)CGC>CTC	p.R1194L	MYO10_uc011cnc.1_Missense_Mutation_p.R73L|MYO10_uc011cnd.1_Missense_Mutation_p.R551L|MYO10_uc011cne.1_Missense_Mutation_p.R551L|MYO10_uc010itx.2_Missense_Mutation_p.R817L	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1194					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						GCACCAGCGGCGTTTCCAAGA	0.547													A	16694699	C	A	16694699	3	1	27	1	0	0	0	0	1	0	0	0	10062	768	27	5	2655	5	MYO10	5	16694699	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	21815	16694699	164220561	2603	26554											
CDH12	1010	broad.mit.edu	37	chr5	21752247	21752247	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcctccccacctccttcatCatcgtaatggatgacgttgt	6	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:21752247C>A	uc010iuc.2	-	12	2442	c.1984G>T	c.(1984-1986)GAT>TAT	p.D662Y	CDH12_uc011cno.1_Missense_Mutation_p.D622Y|CDH12_uc003jgk.2_Missense_Mutation_p.D662Y|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	662	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						CCTCCTTCATCATCGTAATGG	0.458										HNSCC(59;0.17)			A	21752247	C	A	21752247	3	1	27	1	0	0	0	0	1	0	0	0	3098	826	29	5	404	5	CDH12	5	21752247	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5057548	21752247	159163013	2604	26555											
CDH12	1010	broad.mit.edu	37	chr5	21975268	21975268	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actttggctcattatcattaAtatcctgcactttgatgatg	6	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:21975268A>T	uc010iuc.2	-	3	916	c.458T>A	c.(457-459)ATT>AAT	p.I153N	CDH12_uc011cno.1_Missense_Mutation_p.I153N|CDH12_uc003jgk.2_Missense_Mutation_p.I153N	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	153	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						ATTATCATTAATATCCTGCAC	0.423										HNSCC(59;0.17)			T	21975268	A	T	21975268	3	4	27	1	0	0	0	0	1	0	0	0	3098	101	4	5	1966	5	CDH12	5	21975268	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	223021	21975268	158939992	2605	26556											
PRDM9	56979	broad.mit.edu	37	chr5	23522467	23522467	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tagcctgcgagaaagaaaggGtcatgcatacaaagaggtca	12	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:23522467G>C	uc003jgo.2	+	7	745	c.563G>C	c.(562-564)GGT>GCT	p.G188A		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	188					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						GAAAGAAAGGGTCATGCATAC	0.468										HNSCC(3;0.000094)			C	23522467	G	C	23522467	3	2	27	1	0	0	0	0	1	0	0	0	12463	1261	44	5	585	5	PRDM9	5	23522467	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1547199	23522467	157392793	2606	26557											
CDH10	1008	broad.mit.edu	37	chr5	24488088	24488088	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taatatctcgccggagctttTtttcctcaatggctgcagga	9	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:24488088T>A	uc003jgr.1	-	12	2383	c.2051A>T	c.(2050-2052)AAA>ATA	p.K684I	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	684	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		CCGGAGCTTTTTTTCCTCAAT	0.483										HNSCC(23;0.051)			A	24488088	T	A	24488088	3	1	27	1	0	0	0	0	1	0	0	0	3096	1841	64	5	319	5	CDH10	5	24488088	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	965621	24488088	156427172	2607	26558											
CDH9	1007	broad.mit.edu	37	chr5	26881477	26881477	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttcgatggataaaatctTgtacatcaatattttcccac	4	9	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:26881477T>C	uc003jgs.1	-	12	2307	c.2138A>G	c.(2137-2139)CAA>CGA	p.Q713R	CDH9_uc011cnv.1_Missense_Mutation_p.Q306R	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	713	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						GATAAAATCTTGTACATCAAT	0.418													C	26881477	T	C	26881477	3	2	27	1	0	0	0	0	1	0	0	0	3117	1812	63	3	235	3	CDH9	5	26881477	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2393389	26881477	154033783	2608	26559											
CDH9	1007	broad.mit.edu	37	chr5	26886083	26886083	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttcttatacctttattaTctacaatggtgaaattcgga	5	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:26886083T>C	uc003jgs.1	-	10	1791	c.1622A>G	c.(1621-1623)GAT>GGT	p.D541G	CDH9_uc011cnv.1_Missense_Mutation_p.D134G	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	541	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						ACCTTTATTATCTACAATGGT	0.303													C	26886083	T	C	26886083	3	2	27	1	0	0	0	0	1	0	0	0	3117	1435	50	3	759	3	CDH9	5	26886083	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4606	26886083	154029177	2609	26560											
CDH9	1007	broad.mit.edu	37	chr5	26906938	26906938	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgcagttacttgtataAcagatgtacctacatgaaac	7	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:26906938A>G	uc003jgs.1	-	4	702	c.533T>C	c.(532-534)GTT>GCT	p.V178A	CDH9_uc010iug.2_Missense_Mutation_p.V178A	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	178	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						TACTTGTATAACAGATGTACC	0.383													G	26906938	A	G	26906938	3	3	27	1	0	0	0	0	1	0	0	0	3117	43	2	3	1872	3	CDH9	5	26906938	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	20855	26906938	154008322	2610	26561											
CDH6	1004	broad.mit.edu	37	chr5	31305342	31305342	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcctccaatccttatgTtgagccacgatttctctact	7	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:31305342T>G	uc003jhe.1	+	7	1387	c.1061T>G	c.(1060-1062)GTT>GGT	p.V354G	CDH6_uc003jhd.1_Missense_Mutation_p.V354G	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	354	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						AATCCTTATGTTGAGCCACGA	0.458													G	31305342	T	G	31305342	3	3	27	1	0	0	0	0	1	0	0	0	3114	1725	60	5	1083	5	CDH6	5	31305342	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4398404	31305342	149609918	2611	26562											
ZFR	51663	broad.mit.edu	37	chr5	32355933	32355933	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccatcaactccatcactaTctcttcttcgtttcctgttg	3	14	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:32355933T>C	uc003jhr.1	-	20	3238	c.3158A>G	c.(3157-3159)GAT>GGT	p.D1053G	ZFR_uc010ium.1_Missense_Mutation_p.D184G|ZFR_uc011cny.1_RNA	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	1053					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)		TCCATCACTATCTCTTCTTCG	0.373													C	32355933	T	C	32355933	3	2	27	1	0	0	0	0	1	0	0	0	17656	1435	50	3	70	3	ZFR	5	32355933	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1050591	32355933	148559327	2612	26563											
ZFR	51663	broad.mit.edu	37	chr5	32387778	32387778	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaatccttttgccaatacTcccactcgcaaaactccttt	3	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:32387778T>C	uc003jhr.1	-	14	2456	c.2376A>G	c.(2374-2376)GGA>GGG	p.G792G	ZFR_uc011cny.1_RNA	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	792	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)		TTGCCAATACTCCCACTCGCA	0.358													C	32387778	T	C	32387778	2	2	27	1	0	0	0	0	0	0	0	1	17656	1538	54	3		3	ZFR	5	32387778	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	31845	32387778	148527482	2613	26564											
C5orf23	79614	broad.mit.edu	37	chr5	32789518	32789518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacaggtttcatgagaaggtCcctgaaaacatcacatttct	7	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:32789518C>T	uc003jhw.1	+	1	574	c.11C>T	c.(10-12)TCC>TTC	p.S4F		NM_024563	NP_078839			hypothetical protein LOC79614												0						ATGAGAAGGTCCCTGAAAACA	0.388													T	32789518	C	T	32789518	3	4	27	1	0	0	0	0	1	0	0	0	2286	855	30	4	13	4	C5orf23	5	32789518	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	401740	32789518	148125742	2614	26565											
TARS	6897	broad.mit.edu	37	chr5	33455788	33455788	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agactggaagttaagaaagaAactttactggcaatgtttaa	9	4	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:33455788A>G	uc003jhy.2	+	6	967	c.672A>G	c.(670-672)GAA>GAG	p.E224E	TARS_uc011cob.1_Silent_p.E212E|TARS_uc010iup.1_Silent_p.E165E|TARS_uc011coc.1_Silent_p.E245E|TARS_uc003jhz.2_Silent_p.E120E|TARS_uc011cod.1_Silent_p.E103E	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	224					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)	TTAAGAAAGAAACTTTACTGG	0.383													G	33455788	A	G	33455788	2	3	27	1	0	0	0	0	0	0	0	1	15556	11	1	3		3	TARS	5	33455788	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	666270	33455788	147459472	2615	26566											
ADAMTS12	81792	broad.mit.edu	37	chr5	33881513	33881513	+	Frame_Shift_Del	DEL	A	A	-													gatagtgcaagccatatgacAaaaaatgcccactggcatct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:33881512_33881512CA>C	uc003jia.1	-	1	364	c.201_201TG>G	c.(199-201)ttgfs	p.L67fs	ADAMTS12_uc010iuq.1_Frame_Shift_Del_p.L67fs|ADAMTS12_uc003jib.1_Frame_Shift_Del_p.L67fs	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	67					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGCCATATGACAAAAAATGCC	0.488										HNSCC(64;0.19)			-	33881513	A	-	33881513	7	5	27	1	0	1	0	1	0	0	0	0	257	131	5	0	4676	0	ADAMTS12	5	33881513	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	425725	33881513	147033747	2616	26567											
RXFP3	51289	broad.mit.edu	37	chr5	33938202	33938202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctactacccacctggcgtcGtggtctacagcggggggcgc	14	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:33938202G>A	uc003jic.1	+	1	1714	c.1357G>A	c.(1357-1359)GTG>ATG	p.V453M		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	453	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						ACCTGGCGTCGTGGTCTACAG	0.597													A	33938202	G	A	33938202	3	1	27	1	0	0	0	0	1	0	0	0	13761	1145	40	1	1359	1	RXFP3	5	33938202	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	56689	33938202	146977058	2617	26568											
RAI14	26064	broad.mit.edu	37	chr5	34814723	34814723	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccccaagatcaataacttcGactccactatcgggaaagga	7	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:34814723G>A	uc003jir.2	+	12	1084	c.888G>A	c.(886-888)TCG>TCA	p.S296S	RAI14_uc010iur.2_Silent_p.S267S|RAI14_uc011coj.1_Silent_p.S296S|RAI14_uc010ius.1_Silent_p.S225S|RAI14_uc003jis.2_Silent_p.S299S|RAI14_uc003jit.2_Silent_p.S296S|RAI14_uc011cok.1_Silent_p.S288S	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	296						cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					CAATAACTTCGACTCCACTAT	0.343													A	34814723	G	A	34814723	2	1	27	1	0	0	0	0	0	0	0	1	13008	1045	37	1		1	RAI14	5	34814723	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	876521	34814723	146100537	2618	26569											
SPEF2	79925	broad.mit.edu	37	chr5	35806994	35806994	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgttcaaagggggaagTgaagcacaggactccaatag	13	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:35806994T>C	uc003jjo.2	+	35	5307	c.5196T>C	c.(5194-5196)AGT>AGC	p.S1732S	SPEF2_uc003jjp.1_Silent_p.S1218S|SPEF2_uc003jjr.2_Silent_p.S787S	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1732					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGGGGGAAGTGAAGCACAGG	0.393													C	35806994	T	C	35806994	2	2	27	1	0	0	0	0	0	0	0	1	15034	1693	59	3		3	SPEF2	5	35806994	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	992271	35806994	145108266	2619	26570											
IL7R	3575	broad.mit.edu	37	chr5	35860990	35860990	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaactggatgactactcatTctcatgctatagccagttgg	9	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:35860990T>C	uc003jjs.2	+	2	208	c.119T>C	c.(118-120)TTC>TCC	p.F40S	IL7R_uc011coo.1_Missense_Mutation_p.F40S|IL7R_uc011cop.1_RNA	NM_002185	NP_002176	P16871	IL7RA_HUMAN	interleukin 7 receptor precursor	40	Extracellular (Potential).				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			ovary(3)|breast(1)|skin(1)	5	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GACTACTCATTCTCATGCTAT	0.423													C	35860990	T	C	35860990	3	2	27	1	0	0	0	0	1	0	0	0	7705	1783	62	3	125	3	IL7R	5	35860990	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	53996	35860990	145054270	2620	26571											
IL7R	3575	broad.mit.edu	37	chr5	35874637	35874638	+	Frame_Shift_Ins	INS	-	-	A													cttggcctgtgtgttatggaINSaaaaaaggtgaccttcttca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:35874636_35874637G>GA	uc003jjs.3	+	5	881_882	c.792_793G>GA	c.(790-795)tggaaafs	p.W264fs	IL7R_uc011coo.2_Intron|IL7R_uc011cop.2_Intron	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	264					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GTGTGTTATGGAAAAAAAGGTG	0.426			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						A	35874638	-	A	35874637	7	5	27	1	0	1	1	0	0	0	0	0	7705	247	9	0	815	0	IL7R	5	35874637	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	13647	35874637	145040623	2621	26572											
SKP2	6502	broad.mit.edu	37	chr5	36153144	36153144	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaatcgagagaactttccaGgtaaggacatgagggtaaaa	11	5	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:36153144G>T	uc003jkc.1	+	2	462	c.280G>T	c.(280-282)GGT>TGT	p.G94C	SKP2_uc011cou.1_Translation_Start_Site|SKP2_uc003jkd.2_Missense_Mutation_p.G94C|LMBRD2_uc003jkb.1_5'Flank	NM_005983	NP_005974	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2 isoform 1	94	F-box.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAACTTTCCAGGTAAGGACAT	0.468													T	36153144	G	T	36153144	3	4	27	1	0	0	0	0	1	0	0	0	14362	1014	35	5	286	5	SKP2	5	36153144	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	278507	36153144	144762116	2622	26573											
SKP2	6502	broad.mit.edu	37	chr5	36182033	36182033	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctacagattaattgctcccAtttcaccaccattgccaggc	5	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:36182033A>G	uc003jkc.1	+	10	1357	c.1175A>G	c.(1174-1176)CAT>CGT	p.H392R	SKP2_uc011cou.1_Missense_Mutation_p.H178R|SKP2_uc003jkd.2_Intron	NM_005983	NP_005974	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2 isoform 1	392					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATTGCTCCCATTTCACCACC	0.443													G	36182033	A	G	36182033	3	3	27	1	0	0	0	0	1	0	0	0	14362	217	8	3	1213	3	SKP2	5	36182033	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	28889	36182033	144733227	2623	26574											
NIPBL	25836	broad.mit.edu	37	chr5	36961658	36961658	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcttccaattatcaacAaaccactatctcacatagcc	2	14	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:36961658A>G	uc003jkl.3	+	5	930	c.431A>G	c.(430-432)CAA>CGA	p.Q144R	NIPBL_uc003jkk.3_Missense_Mutation_p.Q144R|NIPBL_uc003jkm.1_Missense_Mutation_p.Q23R	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	144					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AATTATCAACAAACCACTATC	0.343													G	36961658	A	G	36961658	3	3	27	1	0	0	0	0	1	0	0	0	10428	130	5	3	445	3	NIPBL	5	36961658	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	779625	36961658	143953602	2624	26575											
NIPBL	25836	broad.mit.edu	37	chr5	37006671	37006671	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcagtatgatcctgtttaCagattagatcctcatggagg	9	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:37006671C>A	uc003jkl.3	+	17	4567	c.4068C>A	c.(4066-4068)TAC>TAA	p.Y1356*	NIPBL_uc003jkk.3_Nonsense_Mutation_p.Y1356*	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1356					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATCCTGTTTACAGATTAGATC	0.318													A	37006671	C	A	37006671	4	1	27	1	0	0	0	0	0	1	0	0	10428	489	17	5	4130	5	NIPBL	5	37006671	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	45013	37006671	143908589	2625	26576											
NIPBL	25836	broad.mit.edu	37	chr5	37020717	37020717	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgcatcgagctgaaaacCgaaaaaagtttcttagaagc	8	7	1	2	rs121918267		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:37020717C>T	uc003jkl.3	+	26	5666	c.5167C>T	c.(5167-5169)CGA>TGA	p.R1723*	NIPBL_uc003jkk.3_Nonsense_Mutation_p.R1723*	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1723					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGCTGAAAACCGAAAAAAGTT	0.343													T	37020717	C	T	37020717	4	4	27	1	0	0	0	0	0	1	0	0	10428	644	23	1	5265	1	NIPBL	5	37020717	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	14046	37020717	143894543	2626	26577											
NIPBL	25836	broad.mit.edu	37	chr5	37020965	37020965	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgtttgcccagagctttgatAtttatttgacacaggtaaac	8	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:37020965A>T	uc003jkl.3	+	27	5813	c.5314A>T	c.(5314-5316)ATT>TTT	p.I1772F	NIPBL_uc003jkk.3_Missense_Mutation_p.I1772F	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1772	HEAT 1.				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAGCTTTGATATTTATTTGAC	0.373													T	37020965	A	T	37020965	3	4	27	1	0	0	0	0	1	0	0	0	10428	449	16	5	5416	5	NIPBL	5	37020965	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	248	37020965	143894295	2627	26578											
C5orf42	65250	broad.mit.edu	37	chr5	37187584	37187584	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataagttcttccatattaaAaaaccgagagaaaggcagca	7	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:37187584A>G	uc011cpa.1	-	23	4243	c.4012T>C	c.(4012-4014)TTT>CTT	p.F1338L	C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.F413L|C5orf42_uc011cpb.1_Missense_Mutation_p.F219L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1338										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)			TCCATATTAAAAAACCGAGAG	0.378													G	37187584	A	G	37187584	3	3	27	1	0	0	0	0	1	0	0	0	2301	14	1	3	5701	3	C5orf42	5	37187584	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	166619	37187584	143727676	2628	26579											
NUP155	9631	broad.mit.edu	37	chr5	37328463	37328463	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acaaagaaaagaggtaccatGagacggtgttcccaaaaagg	11	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:37328463G>A	uc003jku.1	-	17	1991	c.1873C>T	c.(1873-1875)CAT>TAT	p.H625Y	NUP155_uc003jkt.1_Missense_Mutation_p.H566Y|NUP155_uc010iuz.1_Missense_Mutation_p.H625Y	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	625	Pro-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGGTACCATGAGACGGTGTT	0.353													A	37328463	G	A	37328463	3	1	27	1	0	0	0	0	1	0	0	0	10756	1290	45	4	2378	4	NUP155	5	37328463	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	140879	37328463	143586797	2629	26580											
NUP155	9631	broad.mit.edu	37	chr5	37364478	37364478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctgacatgccagaaacggTgggattatctacaaaaagaa	9	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:37364478T>C	uc003jku.1	-	2	284	c.166A>G	c.(166-168)ACC>GCC	p.T56A	NUP155_uc003jkt.1_5'UTR|NUP155_uc010iuz.1_Missense_Mutation_p.T56A	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	56					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCAGAAACGGTGGGATTATCT	0.408													C	37364478	T	C	37364478	3	2	27	1	0	0	0	0	1	0	0	0	10756	1696	59	3	4145	3	NUP155	5	37364478	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	36015	37364478	143550782	2630	26581											
WDR70	55100	broad.mit.edu	37	chr5	37605339	37605339	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatctgggaccgaaatttgaCtgtaagttaaatcttttctt	8	6	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:37605339C>A	uc003jkv.2	+	10	1149	c.1091C>A	c.(1090-1092)ACT>AAT	p.T364N	WDR70_uc010iva.1_Missense_Mutation_p.T364N	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70	364	WD 4.									ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CGAAATTTGACTGTAAGTTAA	0.393													A	37605339	C	A	37605339	3	1	27	1	0	0	0	0	1	0	0	0	17318	579	20	5	1129	5	WDR70	5	37605339	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	240861	37605339	143309921	2631	26582											
LIFR	3977	broad.mit.edu	37	chr5	38511961	38511961	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgaagattgtcaatgtAgcatctaatttccacaaaat	5	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:38511961A>G	uc010ive.1	-	6	999	c.667T>C	c.(667-669)TAC>CAC	p.Y223H	LIFR_uc003jli.2_Missense_Mutation_p.Y223H	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	223	Extracellular (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					TTGTCAATGTAGCATCTAATT	0.398			T	PLAG1	salivary adenoma								G	38511961	A	G	38511961	3	3	27	1	0	0	0	0	1	0	0	0	8780	420	15	3	2686	3	LIFR	5	38511961	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	906622	38511961	142403299	2632	26583											
RICTOR	253260	broad.mit.edu	37	chr5	38947539	38947539	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcataacttaaggctttcaTgaacctataaaaccataaag	5	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:38947539T>C	uc003jlp.2	-	32	4165	c.4141A>G	c.(4141-4143)ATG>GTG	p.M1381V	RICTOR_uc003jlo.2_Missense_Mutation_p.M1405V|RICTOR_uc010ivf.2_Missense_Mutation_p.M1096V	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	1381					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					AAGGCTTTCATGAACCTATAA	0.323													C	38947539	T	C	38947539	3	2	27	1	0	0	0	0	1	0	0	0	13358	1464	51	3	1013	3	RICTOR	5	38947539	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	435578	38947539	141967721	2633	26584											
RICTOR	253260	broad.mit.edu	37	chr5	38952456	38952456	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gactatgcctcacagcatccCagttgtgacattttagaata	7	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:38952456C>G	uc003jlp.2	-	30	2993	c.2969G>C	c.(2968-2970)TGG>TCG	p.W990S	RICTOR_uc003jlo.2_Missense_Mutation_p.W990S|RICTOR_uc010ivf.2_Missense_Mutation_p.W705S	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	990					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					CACAGCATCCCAGTTGTGACA	0.408													G	38952456	C	G	38952456	3	3	27	1	0	0	0	0	1	0	0	0	13358	595	21	5	2193	5	RICTOR	5	38952456	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4917	38952456	141962804	2634	26585											
RICTOR	253260	broad.mit.edu	37	chr5	39002671	39002671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccactttcaattttagcaCcttctggagaatactggagt	8	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:39002671C>T	uc003jlp.2	-	5	382	c.358G>A	c.(358-360)GTG>ATG	p.V120M	RICTOR_uc003jlo.2_Missense_Mutation_p.V120M|RICTOR_uc010ivf.2_Translation_Start_Site|RICTOR_uc003jlq.1_Missense_Mutation_p.V104M|RICTOR_uc011cpk.1_Missense_Mutation_p.V120M	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	120					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					AATTTTAGCACCTTCTGGAGA	0.378													T	39002671	C	T	39002671	3	4	27	1	0	0	0	0	1	0	0	0	13358	507	18	4	4904	4	RICTOR	5	39002671	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	50215	39002671	141912589	2635	26586											
RICTOR	253260	broad.mit.edu	37	chr5	39002727	39002727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgctcgtagccctgctGctcgcacttcttttgcttca	9	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:39002727G>A	uc003jlp.2	-	5	326	c.302C>T	c.(301-303)GCA>GTA	p.A101V	RICTOR_uc003jlo.2_Missense_Mutation_p.A101V|RICTOR_uc010ivf.2_5'UTR|RICTOR_uc003jlq.1_Missense_Mutation_p.A85V|RICTOR_uc011cpk.1_Missense_Mutation_p.A101V	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	101					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					TAGCCCTGCTGCTCGCACTTC	0.378													A	39002727	G	A	39002727	3	1	27	1	0	0	0	0	1	0	0	0	13358	1319	46	2	4960	2	RICTOR	5	39002727	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	56	39002727	141912533	2636	26587											
FYB	2533	broad.mit.edu	37	chr5	39202091	39202091	+	Frame_Shift_Del	DEL	C	C	-													tcctgactttggccccatggCccccccactgtcagcttaga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:39202090_39202090GC>G	uc003jls.3	-	0	1040	c.973_973GC>C	c.(973-975)ccafs	p.P325fs	FYB_uc003jlt.3_Frame_Shift_Del_p.P325fs|FYB_uc003jlu.3_Frame_Shift_Del_p.P325fs|FYB_uc011cpl.2_Frame_Shift_Del_p.P335fs	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	325					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding	p.P325A(4)|p.P335A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCCCATGGCCCCCCCACT	0.537													-	39202091	C	-	39202091	7	5	27	1	0	1	0	1	0	0	0	0	6124	726	26	0	1589	0	FYB	5	39202091	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	199364	39202091	141713169	2637	26588											
C9	735	broad.mit.edu	37	chr5	39311418	39311418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgtgagcacaacatcgCgatttctcattacaaatctt	6	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:39311418C>T	uc003jlv.3	-	7	1021	c.932G>A	c.(931-933)CGC>CAC	p.R311H		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	311	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CACAACATCGCGATTTCTCAT	0.363													T	39311418	C	T	39311418	3	4	27	1	0	0	0	0	1	0	0	0	2443	768	27	1	767	1	C9	5	39311418	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	109327	39311418	141603842	2638	26589											
DAB2	1601	broad.mit.edu	37	chr5	39376984	39376984	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtctaaggcagtgaaggcAtcactggagatgtccttggg	16	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:39376984A>C	uc003jlx.2	-	12	2436	c.1905T>G	c.(1903-1905)GAT>GAG	p.D635E	DAB2_uc003jlw.2_Missense_Mutation_p.D614E	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	635					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			CAGTGAAGGCATCACTGGAGA	0.567											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	39376984	A	C	39376984	3	2	27	1	0	0	0	0	1	0	0	0	4218	214	8	5	419	5	DAB2	5	39376984	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	65566	39376984	141538276	2639	26590											
DAB2	1601	broad.mit.edu	37	chr5	39382948	39382948	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagttctcactgctggctgGgtttgcgaacttgaaaaggg	14	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:39382948G>T	uc003jlx.2	-	10	1644	c.1113C>A	c.(1111-1113)ACC>ACA	p.T371T	DAB2_uc003jlw.2_Silent_p.T350T	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	371					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			CTGCTGGCTGGGTTTGCGAAC	0.507													T	39382948	G	T	39382948	2	4	27	1	0	0	0	0	0	0	0	1	4218	1219	43	5		5	DAB2	5	39382948	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5964	39382948	141532312	2640	26591											
DAB2	1601	broad.mit.edu	37	chr5	39390565	39390565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgttgcccggtttttatgGcaaaaaactgatgctggcct	10	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:39390565G>A	uc003jlx.2	-	5	974	c.443C>T	c.(442-444)GCC>GTC	p.A148V	DAB2_uc003jlw.2_Missense_Mutation_p.A148V	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	148	PID.			A -> T (in Ref. 2; AAA98975).	cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			GGTTTTTATGGCAAAAAACTG	0.453													A	39390565	G	A	39390565	3	1	27	1	0	0	0	0	1	0	0	0	4218	1203	42	2	1909	2	DAB2	5	39390565	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	7617	39390565	141524695	2641	26592											
DAB2	1601	broad.mit.edu	37	chr5	39392490	39392490	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttttctcatcaattatttTtatcccagaaagggaaatgt	6	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:39392490T>C	uc003jlx.2	-	4	838	c.307A>G	c.(307-309)AAA>GAA	p.K103E	DAB2_uc003jlw.2_Missense_Mutation_p.K103E	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	103	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			TCAATTATTTTTATCCCAGAA	0.453													C	39392490	T	C	39392490	3	2	27	1	0	0	0	0	1	0	0	0	4218	1850	64	3	2049	3	DAB2	5	39392490	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1925	39392490	141522770	2642	26593											
PTGER4	5734	broad.mit.edu	37	chr5	40691943	40691943	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagaagtcagtaaaaatccAgatttgcaggccatccgaat	9	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:40691943A>G	uc003jlz.2	+	3	1522	c.930A>G	c.(928-930)CCA>CCG	p.P310P		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	310	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			lung(2)	2						GTAAAAATCCAGATTTGCAGG	0.428													G	40691943	A	G	40691943	2	3	27	1	0	0	0	0	0	0	0	1	12745	175	7	3		3	PTGER4	5	40691943	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1299453	40691943	140223317	2643	26594											
PTGER4	5734	broad.mit.edu	37	chr5	40691998	40691998	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctagacccctggataTatatcctcctgagaaagaca	6	13	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:40691998T>C	uc003jlz.2	+	3	1577	c.985T>C	c.(985-987)TAT>CAT	p.Y329H		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	329	Helical; Name=7; (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			lung(2)	2						CCCCTGGATATATATCCTCCT	0.502													C	40691998	T	C	40691998	3	2	27	1	0	0	0	0	1	0	0	0	12745	1406	49	3	991	3	PTGER4	5	40691998	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	55	40691998	140223262	2644	26595											
PTGER4	5734	broad.mit.edu	37	chr5	40692107	40692107	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccggacagcactgctcagAcagtcaaaggacatcttctg	9	13	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:40692107A>G	uc003jlz.2	+	3	1686	c.1094A>G	c.(1093-1095)GAC>GGC	p.D365G		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	365	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	p.D365D(1)		lung(2)	2						CACTGCTCAGACAGTCAAAGG	0.557													G	40692107	A	G	40692107	3	3	27	1	0	0	0	0	1	0	0	0	12745	275	10	3	1100	3	PTGER4	5	40692107	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	109	40692107	140223153	2645	26596											
PRKAA1	5562	broad.mit.edu	37	chr5	40769572	40769572	+	Frame_Shift_Del	DEL	A	A	-													gtgagccacaacttgttcttAaaaattcaccatctgacatc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:40769571_40769571TA>T	uc003jmb.3	-	5	594	c.588_588TA>A	c.(586-588)ttafs	p.L196fs	PRKAA1_uc003jmc.3_Frame_Shift_Del_p.L181fs	NM_206907	NP_996790	Q13131	AAPK1_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 1 catalytic subunit (PRKAA1), transcript variant 2, mRNA.	181	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	AACTTGTTCTTAAAAATTCAC	0.363													-	40769572	A	-	40769572	7	5	27	1	0	1	0	1	0	0	0	0	12493	372	13	0	1157	0	PRKAA1	5	40769572	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	77465	40769572	140145688	2646	26597											
PRKAA1	5562	broad.mit.edu	37	chr5	40777625	40777625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctaccacatcaaggctcCgaatcttctgtcgattgagt	7	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:40777625C>T	uc003jmc.2	-	2	197	c.191G>A	c.(190-192)CGG>CAG	p.R64Q	PRKAA1_uc003jmb.2_Missense_Mutation_p.R64Q	NM_006251	NP_006242	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic	64	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	ATCAAGGCTCCGAATCTTCTG	0.343													T	40777625	C	T	40777625	3	4	27	1	0	0	0	0	1	0	0	0	12493	652	23	1	1569	1	PRKAA1	5	40777625	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	8053	40777625	140137635	2647	26598											
CARD6	84674	broad.mit.edu	37	chr5	40853695	40853695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagcctcctgggttatggGccgcccctttgggtcagagc	14	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:40853695G>A	uc003jmg.2	+	3	2336	c.2261G>A	c.(2260-2262)GGC>GAC	p.G754D		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	754					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5						TGGGTTATGGGCCGCCCCTTT	0.507													A	40853695	G	A	40853695	3	1	27	1	0	0	0	0	1	0	0	0	2650	1203	42	2	2271	2	CARD6	5	40853695	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	76070	40853695	140061565	2648	26599											
C7	730	broad.mit.edu	37	chr5	40955575	40955575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccttagttacctagagctgGacaatcctgctggaaacaaa	9	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:40955575G>A	uc003jmh.2	+	10	1294	c.1180G>A	c.(1180-1182)GAC>AAC	p.D394N	C7_uc011cpn.1_RNA	NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	394	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)				CCTAGAGCTGGACAATCCTGC	0.443													A	40955575	G	A	40955575	3	1	27	1	0	0	0	0	1	0	0	0	2375	1174	41	4	1218	4	C7	5	40955575	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	101880	40955575	139959685	2649	26600											
OXCT1	5019	broad.mit.edu	37	chr5	41842866	41842866	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctccaaaataaagtgctgAccattgaactccctcacctg	5	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:41842866A>T	uc003jmn.2	-	6	913	c.582T>A	c.(580-582)GGT>GGA	p.G194G		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	194					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)	TAAAGTGCTGACCATTGAACT	0.443													T	41842866	A	T	41842866	2	4	27	1	0	0	0	0	0	0	0	1	11329	262	10	5		5	OXCT1	5	41842866	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	887291	41842866	139072394	2650	26601											
OXCT1	5019	broad.mit.edu	37	chr5	41850186	41850186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttgttgtatttgatgggCgatcctccttcttgtaccag	9	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:41850186C>T	uc003jmn.2	-	5	841	c.510G>A	c.(508-510)TCG>TCA	p.S170S		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	170					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)	ATTTGATGGGCGATCCTCCTT	0.512													T	41850186	C	T	41850186	2	4	27	1	0	0	0	0	0	0	0	1	11329	755	27	1		1	OXCT1	5	41850186	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	7320	41850186	139065074	2651	26602											
OXCT1	5019	broad.mit.edu	37	chr5	41850248	41850248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaaatgcaggaactccagCcccgcctgcacggatcctct	9	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:41850248C>T	uc003jmn.2	-	5	779	c.448G>A	c.(448-450)GCT>ACT	p.A150T		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	150					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)	GGAACTCCAGCCCCGCCTGCA	0.507													T	41850248	C	T	41850248	3	4	27	1	0	0	0	0	1	0	0	0	11329	739	26	2	1166	2	OXCT1	5	41850248	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	62	41850248	139065012	2652	26603											
FBXO4	26272	broad.mit.edu	37	chr5	41927319	41927319	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagcctatatctgaggtcActgatggtgcattttttgac	9	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:41927319A>G	uc003jmq.2	+	2	450	c.394A>G	c.(394-396)ACT>GCT	p.T132A	FBXO4_uc003jmp.2_Missense_Mutation_p.T132A|FBXO4_uc003jmr.2_Missense_Mutation_p.T132A	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN	F-box only protein 4 isoform 1	132				T -> S (in Ref. 1; AAF04468).	positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			liver(1)	1		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				ATCTGAGGTCACTGATGGTGC	0.323													G	41927319	A	G	41927319	3	3	27	1	0	0	0	0	1	0	0	0	5748	159	6	3	400	3	FBXO4	5	41927319	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	77071	41927319	138987941	2653	26604											
PAIP1	10605	broad.mit.edu	37	chr5	43527569	43527569	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcatcaatatcatccaagTatctgtaaaagcaaagatga	5	8	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:43527569T>C	uc003job.2	-	11	1596	c.1349A>G	c.(1348-1350)TAC>TGC	p.Y450C	PAIP1_uc003joa.2_Missense_Mutation_p.Y371C|PAIP1_uc010ivp.2_Missense_Mutation_p.T340A|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.Y338C	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	450	PABPC1-interacting motif-1 (PAM1).				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			ovary(1)	1	Lung NSC(6;2.07e-05)					ATCATCCAAGTATCTGTAAAA	0.313													C	43527569	T	C	43527569	3	2	27	1	0	0	0	0	1	0	0	0	11396	1638	57	3	94	3	PAIP1	5	43527569	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1600250	43527569	137387691	2654	26605											
PAIP1	10605	broad.mit.edu	37	chr5	43556088	43556088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactaggtggagctctcagGggcctcgtttgctctgcaaa	13	10	2	0	rs144446267		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:43556088G>A	uc003job.2	-	2	526	c.279C>T	c.(277-279)CCC>CCT	p.P93P	PAIP1_uc003joa.2_Silent_p.P14P|PAIP1_uc010ivp.2_Silent_p.P14P|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_5'UTR	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	93	Pro-rich.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			ovary(1)	1	Lung NSC(6;2.07e-05)					GAGCTCTCAGGGGCCTCGTTT	0.458													A	43556088	G	A	43556088	2	1	27	1	0	0	0	0	0	0	0	1	11396	1219	43	4		4	PAIP1	5	43556088	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	28519	43556088	137359172	2655	26606											
NNT	23530	broad.mit.edu	37	chr5	43616140	43616140	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattgctcagggatatgatgCgctaagctccatggccaaca	10	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:43616140C>A	uc003joe.2	+	4	827	c.572C>A	c.(571-573)GCG>GAG	p.A191E	NNT_uc003jof.2_Missense_Mutation_p.A191E	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	191	Mitochondrial matrix.				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	GGATATGATGCGCTAAGCTCC	0.438													A	43616140	C	A	43616140	3	1	27	1	0	0	0	0	1	0	0	0	10510	768	27	5	582	5	NNT	5	43616140	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	60052	43616140	137299120	2656	26607											
NNT	23530	broad.mit.edu	37	chr5	43624143	43624143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcttctagattctgataGttggtggtggtgttgctggg	15	5	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:43624143G>A	uc003joe.2	+	6	952	c.697G>A	c.(697-699)GTT>ATT	p.V233I	NNT_uc003jof.2_Missense_Mutation_p.V233I	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	233	Mitochondrial matrix.|NAD (By similarity).				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	GATTCTGATAGTTGGTGGTGG	0.418													A	43624143	G	A	43624143	3	1	27	1	0	0	0	0	1	0	0	0	10510	1029	36	4	715	4	NNT	5	43624143	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	8003	43624143	137291117	2657	26608											
MRPS30	10884	broad.mit.edu	37	chr5	44809273	44809273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagcgctggcaggcgacggTgcacgctgcggagtcggtag	19	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:44809273T>C	uc003joh.2	+	1	247	c.209T>C	c.(208-210)GTG>GCG	p.V70A	MRPS30_uc003joi.1_5'Flank	NM_016640	NP_057724	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	70					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome				0	Lung NSC(6;8.08e-07)					CAGGCGACGGTGCACGCTGCG	0.637													C	44809273	T	C	44809273	3	2	27	1	0	0	0	0	1	0	0	0	9840	1696	59	3	211	3	MRPS30	5	44809273	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1185130	44809273	136105987	2658	26609											
HCN1	348980	broad.mit.edu	37	chr5	45262884	45262884	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttcagatccttctggaaCttttgcagaagaattgaatt	9	6	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:45262884C>T	uc003jok.2	-	8	1837	c.1812G>A	c.(1810-1812)AAG>AAA	p.K604K		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	604	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						CCTTCTGGAACTTTTGCAGAA	0.433													T	45262884	C	T	45262884	2	4	27	1	0	0	0	0	0	0	0	1	6996	564	20	4		4	HCN1	5	45262884	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	453611	45262884	135652376	2659	26610											
HCN1	348980	broad.mit.edu	37	chr5	45695850	45695850	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttttccaccgccttctggcTcccaaacatgcggagggaga	10	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:45695850T>A	uc003jok.2	-	1	371	c.346A>T	c.(346-348)AGC>TGC	p.S116C		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	116	Involved in subunit assembly (By similarity).|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						GCCTTCTGGCTCCCAAACATG	0.597													A	45695850	T	A	45695850	3	1	27	1	0	0	0	0	1	0	0	0	6996	1551	54	5	2358	5	HCN1	5	45695850	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	432966	45695850	135219410	2660	26611											
ITGA1	3672	broad.mit.edu	37	chr5	52157298	52157298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtgcttattggttctcCgttagttggccaacccaaaa	10	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:52157298C>T	uc003jou.2	+	3	252	c.200C>T	c.(199-201)CCG>CTG	p.P67L	ITGA1_uc003jov.2_RNA	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	67	Extracellular (Potential).|FG-GAP 1.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ATTGGTTCTCCGTTAGTTGGC	0.358													T	52157298	C	T	52157298	3	4	27	1	0	0	0	0	1	0	0	0	7872	652	23	1	210	1	ITGA1	5	52157298	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6461448	52157298	128757962	2661	26612											
ITGA1	3672	broad.mit.edu	37	chr5	52221106	52221106	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttcctgtcatcatttcAgattccctttgccaaagatt	4	11	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:52221106A>G	uc003jou.2	+	19	2456	c.2404_splice	c.e19-2	p.I802_splice	ITGA1_uc003jov.2_Splice_Site|ITGA1_uc003jow.2_Splice_Site_p.I333_splice	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor						axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TCATCATTTCAGATTCCCTTT	0.388													G	52221106	A	G	52221106	5	3	27	1	0	0	0	0	0	0	1	0	7872	202	7	3	2476	3	ITGA1	5	52221106	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	63808	52221106	128694154	2662	26613											
ITGA2	3673	broad.mit.edu	37	chr5	52344509	52344509	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgttgtggttgtgtgtgAtgaatcaaatagtatttatc	11	2	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:52344509A>G	uc003joy.2	+	6	682	c.539A>G	c.(538-540)GAT>GGT	p.D180G	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.D104G|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	180	Extracellular (Potential).				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GTTGTGTGTGATGAATCAAAT	0.398													G	52344509	A	G	52344509	3	3	27	1	0	0	0	0	1	0	0	0	7875	333	12	3	561	3	ITGA2	5	52344509	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	123403	52344509	128570751	2663	26614											
ITGA2	3673	broad.mit.edu	37	chr5	52353888	52353888	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagacaactttcagatggAaatgtcacaagtgggattca	11	6	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:52353888A>G	uc003joy.2	+	10	1273	c.1130A>G	c.(1129-1131)GAA>GGA	p.E377G	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.E301G|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	377	Extracellular (Potential).|FG-GAP 3.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TTTCAGATGGAAATGTCACAA	0.333													G	52353888	A	G	52353888	3	3	27	1	0	0	0	0	1	0	0	0	7875	246	9	3	1168	3	ITGA2	5	52353888	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	9379	52353888	128561372	2664	26615											
ITGA2	3673	broad.mit.edu	37	chr5	52367773	52367773	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgtatgtttaggagccCtctgatgttgtcaactcttt	10	7	3	1	rs41366951	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:52367773C>A	uc003joy.2	+	18	2384	c.2241C>A	c.(2239-2241)CCC>CCA	p.P747P	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Silent_p.P671P|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	747	Extracellular (Potential).				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TTTAGGAGCCCTCTGATGTTG	0.438													A	52367773	C	A	52367773	2	1	27	1	0	0	0	0	0	0	0	1	7875	668	24	5		5	ITGA2	5	52367773	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	13885	52367773	128547487	2665	26616											
SKIV2L2	23517	broad.mit.edu	37	chr5	54603888	54603888	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttcagcgtgttcgagggcgActcgaccactgcggcgggaa	16	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:54603888A>T	uc003jpy.3	+	1	313	c.47A>T	c.(46-48)GAC>GTC	p.D16V	SKIV2L2_uc011cqi.1_5'UTR|DHX29_uc003jpx.2_5'Flank|DHX29_uc010ivw.2_5'Flank	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	16					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)|skin(1)	2		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTCGAGGGCGACTCGACCACT	0.572													T	54603888	A	T	54603888	3	4	27	1	0	0	0	0	1	0	0	0	14360	275	10	5	49	5	SKIV2L2	5	54603888	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2236115	54603888	126311372	2666	26617											
SKIV2L2	23517	broad.mit.edu	37	chr5	54603965	54603965	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggggcctccagggtctgcaGacaaggcagggtaaggaaga	17	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:54603965G>A	uc003jpy.3	+	1	390	c.124G>A	c.(124-126)GAC>AAC	p.D42N	SKIV2L2_uc011cqi.1_Missense_Mutation_p.R9K|DHX29_uc003jpx.2_5'Flank|DHX29_uc010ivw.2_5'Flank	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	42					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)|skin(1)	2		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				AGGGTCTGCAGACAAGGCAGG	0.507													A	54603965	G	A	54603965	3	1	27	1	0	0	0	0	1	0	0	0	14360	942	33	4	126	4	SKIV2L2	5	54603965	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	77	54603965	126311295	2667	26618											
SKIV2L2	23517	broad.mit.edu	37	chr5	54696086	54696086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaaacgttttcctgacgGcatccccttattagacccta	6	13	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:54696086G>A	uc003jpy.3	+	21	2584	c.2318G>A	c.(2317-2319)GGC>GAC	p.G773D	SKIV2L2_uc011cqi.1_Missense_Mutation_p.G672D	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	773					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)|skin(1)	2		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTTCCTGACGGCATCCCCTTA	0.348													A	54696086	G	A	54696086	3	1	27	1	0	0	0	0	1	0	0	0	14360	1203	42	2	2400	2	SKIV2L2	5	54696086	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	92121	54696086	126219174	2668	26619											
IL31RA	133396	broad.mit.edu	37	chr5	55168208	55168208	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatcccagataattataccaTtgaggtggaagctgaaaatg	10	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:55168208T>A	uc003jql.2	+	4	448	c.383T>A	c.(382-384)ATT>AAT	p.I128N	IL31RA_uc003jqk.2_Missense_Mutation_p.I128N|IL31RA_uc011cqj.1_Translation_Start_Site|IL31RA_uc003jqm.2_Missense_Mutation_p.I96N|IL31RA_uc003jqn.2_Missense_Mutation_p.I128N|IL31RA_uc010iwa.1_Missense_Mutation_p.I96N|IL31RA_uc003jqo.2_Translation_Start_Site	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	96	Extracellular (Potential).|Fibronectin type-III 1.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AATTATACCATTGAGGTGGAA	0.333													A	55168208	T	A	55168208	3	1	27	1	0	0	0	0	1	0	0	0	7691	1493	52	5	397	5	IL31RA	5	55168208	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	472122	55168208	125747052	2669	26620											
IL6ST	3572	broad.mit.edu	37	chr5	55237466	55237466	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttggcctagaagatgacAtgcatgaagaccccccaata	9	11	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:55237466A>G	uc003jqq.2	-	17	2456	c.2201T>C	c.(2200-2202)ATG>ACG	p.M734T	uc003jqp.2_5'Flank|IL6ST_uc010iwb.2_Missense_Mutation_p.M673T|IL6ST_uc010iwc.2_3'UTR|IL6ST_uc010iwd.2_Missense_Mutation_p.M53T|IL6ST_uc011cqk.1_Missense_Mutation_p.M445T|IL6ST_uc003jqr.2_3'UTR	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	734	Cytoplasmic (Potential).|Ser-rich.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGAAGATGACATGCATGAAGA	0.413			O		hepatocellular ca								G	55237466	A	G	55237466	3	3	27	1	0	0	0	0	1	0	0	0	7703	217	8	3	559	3	IL6ST	5	55237466	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	69258	55237466	125677794	2670	26621											
ANKRD55	79722	broad.mit.edu	37	chr5	55407092	55407092	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctgattagaatcactctTccaggggttatctagtaaca	7	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:55407092T>C	uc003jqu.2	-	10	1635	c.1483A>G	c.(1483-1485)AAG>GAG	p.K495E	ANKRD55_uc003jqt.2_Missense_Mutation_p.K207E	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	494										skin(1)	1		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GAATCACTCTTCCAGGGGTTA	0.448													C	55407092	T	C	55407092	3	2	27	1	0	0	0	0	1	0	0	0	681	1792	62	3	373	3	ANKRD55	5	55407092	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	169626	55407092	125508168	2671	26622											
MIER3	166968	broad.mit.edu	37	chr5	56219147	56219147	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcataaaggattcagggacGgcaatgcccattttcaatct	8	9	4	0	rs141090261		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:56219147G>T	uc003jrd.1	-	13	1486	c.1461C>A	c.(1459-1461)GCC>GCA	p.A487A	MIER3_uc003jqz.1_Silent_p.A424A|MIER3_uc003jra.1_Silent_p.A486A|MIER3_uc003jrb.1_Silent_p.A311A|MIER3_uc003jrc.1_Silent_p.A492A	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		ATTCAGGGACGGCAATGCCCA	0.408													T	56219147	G	T	56219147	2	4	27	1	0	0	0	0	0	0	0	1	9582	1103	39	5		5	MIER3	5	56219147	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	812055	56219147	124696113	2672	26623											
MIER3	166968	broad.mit.edu	37	chr5	56231255	56231255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatcaaaagctttccttacCtttctcattaccatcgtact	2	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:56231255C>T	uc003jrd.1	-	7	620	c.595G>A	c.(595-597)GTA>ATA	p.V199I	MIER3_uc003jqz.1_Missense_Mutation_p.V136I|MIER3_uc003jra.1_Missense_Mutation_p.V199I|MIER3_uc003jrb.1_Missense_Mutation_p.V23I|MIER3_uc003jrc.1_Missense_Mutation_p.V204I	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family	199	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		CTTTCCTTACCTTTCTCATTA	0.338													T	56231255	C	T	56231255	3	4	27	1	0	0	0	0	1	0	0	0	9582	695	24	4	1082	4	MIER3	5	56231255	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	12108	56231255	124684005	2673	26624											
PLK2	10769	broad.mit.edu	37	chr5	57751521	57751521	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgctctttgggaatgcaAtcagcttccggcatgttttc	10	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:57751521A>G	uc003jrn.2	-	11	1597	c.1470T>C	c.(1468-1470)GAT>GAC	p.D490D		NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	490					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|lung(1)|skin(1)	4		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TGGGAATGCAATCAGCTTCCG	0.483													G	57751521	A	G	57751521	2	3	27	1	0	0	0	0	0	0	0	1	12096	98	4	3		3	PLK2	5	57751521	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1520266	57751521	123163739	2674	26625											
DEPDC1B	55789	broad.mit.edu	37	chr5	59943345	59943345	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggatatggtttcaggggTgaagaaggaggaaatctaaa	14	2	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:59943345T>C	uc003jsh.2	-	3	403	c.330A>G	c.(328-330)TCA>TCG	p.S110S	DEPDC1B_uc011cqm.1_Silent_p.S110S|DEPDC1B_uc011cqn.1_Silent_p.S83S	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	110					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				GTTTCAGGGGTGAAGAAGGAG	0.408													C	59943345	T	C	59943345	2	2	27	1	0	0	0	0	0	0	0	1	4440	1683	59	3		3	DEPDC1B	5	59943345	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2191824	59943345	120971915	2675	26626											
ERCC8	1161	broad.mit.edu	37	chr5	60195478	60195478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaacagcttgtgacttttTcccattatgttgatcaagag	7	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:60195478T>C	uc003jsm.3	-	8	764	c.694A>G	c.(694-696)AAA>GAA	p.K232E	ERCC8_uc003jsk.2_RNA|ERCC8_uc003jsl.3_Missense_Mutation_p.K174E|ERCC8_uc011cqp.1_Missense_Mutation_p.K79E	NM_000082	NP_000073	Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent	232					positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding				0		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				TGTGACTTTTTCCCATTATGT	0.308								Direct_reversal_of_damage|NER					C	60195478	T	C	60195478	3	2	27	1	0	0	0	0	1	0	0	0	5219	1792	62	3	516	3	ERCC8	5	60195478	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	252133	60195478	120719782	2676	26627											
IPO11	51194	broad.mit.edu	37	chr5	61772521	61772521	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttaacaggtagaagtataGgtacagataatgtgtgtaga	11	2	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:61772521G>T	uc003jtc.2	+	9	959	c.769G>T	c.(769-771)GGT>TGT	p.G257C	IPO11_uc011cqr.1_Missense_Mutation_p.G297C|IPO11_uc003jtb.1_Missense_Mutation_p.G257C	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2	257						cytoplasm|nucleus	protein binding			lung(2)|skin(2)	4		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TAGAAGTATAGGTACAGATAA	0.259													T	61772521	G	T	61772521	3	4	27	1	0	0	0	0	1	0	0	0	7793	1000	35	5	923	5	IPO11	5	61772521	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1577043	61772521	119142739	2677	26628											
HTR1A	3350	broad.mit.edu	37	chr5	63256873	63256873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgaccgtcttgcggatgCggaagcgcgcagctcggaat	14	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:63256873C>T	uc011cqt.1	-	1	674	c.674G>A	c.(673-675)CGC>CAC	p.R225H		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	225	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CTTGCGGATGCGGAAGCGCGC	0.572													T	63256873	C	T	63256873	3	4	27	1	0	0	0	0	1	0	0	0	7436	768	27	1	597	1	HTR1A	5	63256873	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1484352	63256873	117658387	2678	26629											
HTR1A	3350	broad.mit.edu	37	chr5	63256991	63256991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccttgctaatggtgcatgCgtcggggtccgagcggtctt	14	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:63256991C>T	uc011cqt.1	-	1	556	c.556G>A	c.(556-558)GCA>ACA	p.A186T		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	186	Extracellular (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ATGGTGCATGCGTCGGGGTCC	0.572													T	63256991	C	T	63256991	3	4	27	1	0	0	0	0	1	0	0	0	7436	768	27	1	715	1	HTR1A	5	63256991	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	118	63256991	117658269	2679	26630											
HTR1A	3350	broad.mit.edu	37	chr5	63257128	63257128	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttcacgtagtcgatggggTccgtgatggcccagtacctg	14	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:63257128T>A	uc011cqt.1	-	1	419	c.419A>T	c.(418-420)GAC>GTC	p.D140V		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	140	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GTCGATGGGGTCCGTGATGGC	0.617													A	63257128	T	A	63257128	3	1	27	1	0	0	0	0	1	0	0	0	7436	1667	58	5	852	5	HTR1A	5	63257128	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	137	63257128	117658132	2680	26631											
CENPK	64105	broad.mit.edu	37	chr5	64850721	64850721	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtactatccggatctagaTcctcctgattcattgatata	6	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:64850721T>C	uc003jts.2	-	3	226	c.14A>G	c.(13-15)GAT>GGT	p.D5G	CENPK_uc003jtt.2_5'UTR|CENPK_uc003jtu.2_Missense_Mutation_p.D5G	NM_022145	NP_071428	Q9BS16	CENPK_HUMAN	SoxLZ/Sox6 leucine zipper binding protein	5					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm					0		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		CGGATCTAGATCCTCCTGATT	0.264													C	64850721	T	C	64850721	3	2	27	1	0	0	0	0	1	0	0	0	3235	1435	50	3	831	3	CENPK	5	64850721	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1593593	64850721	116064539	2681	26632											
PPWD1	23398	broad.mit.edu	37	chr5	64867672	64867672	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttacgattttagctatttTcctggacagtgtgagtggat	10	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:64867672T>C	uc003jtv.3	+	5	535	c.528T>C	c.(526-528)TTT>TTC	p.F176F	PPWD1_uc011cqv.1_Silent_p.F146F|PPWD1_uc011cqw.1_Silent_p.F20F	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat	176					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TTAGCTATTTTCCTGGACAGT	0.428													C	64867672	T	C	64867672	2	2	27	1	0	0	0	0	0	0	0	1	12414	1780	62	3		3	PPWD1	5	64867672	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	16951	64867672	116047588	2682	26633											
NLN	57486	broad.mit.edu	37	chr5	65077166	65077166	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattaccttaaaatatccacActatttccctgtcatgaaga	3	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:65077166A>G	uc003juf.2	+	6	856	c.740A>G	c.(739-741)CAC>CGC	p.H247R	NLN_uc003jue.2_Missense_Mutation_p.H247R|NLN_uc003jug.2_Missense_Mutation_p.H76R	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	neurolysin precursor	247					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AAATATCCACACTATTTCCCT	0.333													G	65077166	A	G	65077166	3	3	27	1	0	0	0	0	1	0	0	0	10467	159	6	3	762	3	NLN	5	65077166	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	209494	65077166	115838094	2683	26634											
SFRS12	140890	broad.mit.edu	37	chr5	65466667	65466667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaggacaaagaaaaggaacGagaaaaagacagatccaaag	10	6	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:65466667G>A	uc003juo.2	+	10	1688	c.1028G>A	c.(1027-1029)CGA>CAA	p.R343Q	SFRS12_uc003jun.2_Missense_Mutation_p.R459Q|SFRS12_uc010iwy.2_Missense_Mutation_p.R343Q	NM_139168	NP_631907	Q8WXA9	SREK1_HUMAN	splicing factor, arginine/serine-rich 12 isoform	343	Arg/Glu/Lys/Ser-rich.				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding				0		Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234)		Lung(70;0.00449)		gaaaaggaACGAGAAAAAGAC	0.199													A	65466667	G	A	65466667	3	1	27	1	0	0	0	0	1	0	0	0	14167	1058	37	1	1410	1	SFRS12	5	65466667	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	389501	65466667	115448593	2684	26635											
MAST4	375449	broad.mit.edu	37	chr5	66459236	66459236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgggcaattccaagatcgCgcaagcctttcccagcaaga	9	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:66459236C>T	uc003jut.1	+	28	3730	c.3662C>T	c.(3661-3663)GCG>GTG	p.A1221V	MAST4_uc003juw.2_Missense_Mutation_p.A1149V|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1413						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCCAAGATCGCGCAAGCCTTT	0.667													T	66459236	C	T	66459236	3	4	27	1	0	0	0	0	1	0	0	0	9327	768	27	1	4473	1	MAST4	5	66459236	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	992569	66459236	114456024	2685	26636											
PIK3R1	5295	broad.mit.edu	37	chr5	67593317	67593317	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccgagccctataacttgtAcagctctctgaaagaactgg	9	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:67593317A>G	uc003jva.2	+	16	2623	c.2063A>G	c.(2062-2064)TAC>TGC	p.Y688C	PIK3R1_uc003jvb.2_Missense_Mutation_p.Y688C|PIK3R1_uc003jvc.2_Missense_Mutation_p.Y388C|PIK3R1_uc003jvd.2_Missense_Mutation_p.Y418C|PIK3R1_uc003jve.2_Missense_Mutation_p.Y367C	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	688	SH2 2.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TATAACTTGTACAGCTCTCTG	0.473			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)			G	67593317	A	G	67593317	3	3	27	1	0	0	0	0	1	0	0	0	11918	391	14	3	2251	3	PIK3R1	5	67593317	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1134081	67593317	113321943	2686	26637											
BDP1	55814	broad.mit.edu	37	chr5	70782320	70782320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttaaacagaggaaaagcGcccttttgacttcgattttt	7	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:70782320G>A	uc003kbp.1	+	9	1342	c.1079G>A	c.(1078-1080)CGC>CAC	p.R360H	BDP1_uc003kbn.1_Missense_Mutation_p.R360H|BDP1_uc003kbo.2_Missense_Mutation_p.R360H	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	360	Required for phosphorylation by CSNK2A1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAGGAAAAGCGCCCTTTTGAC	0.303													A	70782320	G	A	70782320	3	1	27	1	0	0	0	0	1	0	0	0	1395	1087	38	1	1113	1	BDP1	5	70782320	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3189003	70782320	110132940	2687	26638											
BDP1	55814	broad.mit.edu	37	chr5	70809109	70809109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccaaacttagcaagagcaGctttgaagagagagactaca	9	8	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:70809109G>A	uc003kbp.1	+	19	4608	c.4345G>A	c.(4345-4347)GCT>ACT	p.A1449T	BDP1_uc003kbo.2_Missense_Mutation_p.A1449T	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1449					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGCAAGAGCAGCTTTGAAGAG	0.358													A	70809109	G	A	70809109	3	1	27	1	0	0	0	0	1	0	0	0	1395	971	34	2	4419	2	BDP1	5	70809109	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	26789	70809109	110106151	2688	26639											
BDP1	55814	broad.mit.edu	37	chr5	70818630	70818630	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggtttcagcaagaaaagaTtgtgtaggttccaaagagtc	12	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:70818630T>C	uc003kbp.1	+	24	5504	c.5241T>C	c.(5239-5241)GAT>GAC	p.D1747D	BDP1_uc003kbo.2_Silent_p.D1747D|BDP1_uc003kbq.1_RNA	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1747					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CAAGAAAAGATTGTGTAGGTT	0.368													C	70818630	T	C	70818630	2	2	27	1	0	0	0	0	0	0	0	1	1395	1490	52	3		3	BDP1	5	70818630	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9521	70818630	110096630	2689	26640											
MAP1B	4131	broad.mit.edu	37	chr5	71495096	71495096	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccccccgaagtgagtggtTacagctatgaaaagactgag	12	10	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:71495096T>C	uc003kbw.3	+	5	6155	c.5914T>C	c.(5914-5916)TAC>CAC	p.Y1972H	MAP1B_uc010iyw.1_Missense_Mutation_p.Y1989H|MAP1B_uc010iyx.1_Missense_Mutation_p.Y1846H|MAP1B_uc010iyy.1_Missense_Mutation_p.Y1846H	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1972	MAP1B 6.					microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGTGAGTGGTTACAGCTATGA	0.498													C	71495096	T	C	71495096	3	2	27	1	0	0	0	0	1	0	0	0	9228	1754	61	3	5932	3	MAP1B	5	71495096	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	676466	71495096	109420164	2690	26641											
MRPS27	23107	broad.mit.edu	37	chr5	71521893	71521893	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaacataccgcttctctAcacagctttatgtcttctgg	7	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:71521893A>G	uc003kbz.3	-	9	864	c.828T>C	c.(826-828)TGT>TGC	p.C276C	MRPS27_uc003kca.3_Silent_p.C220C|MRPS27_uc011cse.1_Silent_p.C290C|MRPS27_uc011csd.1_Silent_p.C57C|MRPS27_uc010iyz.1_RNA	NM_015084	NP_055899	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	276						mitochondrion|ribosome					0		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		CCGCTTCTCTACACAGCTTTA	0.453													G	71521893	A	G	71521893	2	3	27	1	0	0	0	0	0	0	0	1	9838	389	14	3		3	MRPS27	5	71521893	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	26797	71521893	109393367	2691	26642											
ZNF366	167465	broad.mit.edu	37	chr5	71756528	71756528	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgggtgaccaggttgtActtggaggtgtaggacttct	16	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:71756528A>T	uc003kce.1	-	2	982	c.796T>A	c.(796-798)TAC>AAC	p.Y266N		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	266	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		ACCAGGTTGTACTTGGAGGTG	0.617													T	71756528	A	T	71756528	3	4	27	1	0	0	0	0	1	0	0	0	17867	391	14	5	1454	5	ZNF366	5	71756528	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	234635	71756528	109158732	2692	26643											
TNPO1	3842	broad.mit.edu	37	chr5	72173107	72173107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgtggctttagaagcctGtgaattttggctaactttag	10	5	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:72173107G>A	uc003kck.3	+	9	1001	c.854G>A	c.(853-855)TGT>TAT	p.C285Y	TNPO1_uc011csi.1_RNA|TNPO1_uc011csj.1_Missense_Mutation_p.C235Y|TNPO1_uc003kch.2_Missense_Mutation_p.C277Y|TNPO1_uc003kci.3_Missense_Mutation_p.C277Y|TNPO1_uc003kcg.3_Missense_Mutation_p.C277Y	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	285					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TTAGAAGCCTGTGAATTTTGG	0.373													A	72173107	G	A	72173107	3	1	27	1	0	0	0	0	1	0	0	0	16332	1377	48	4	888	4	TNPO1	5	72173107	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	416579	72173107	108742153	2693	26644											
TNPO1	3842	broad.mit.edu	37	chr5	72183988	72183988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgataaaaaggctcttgtgCgttccataacatgctggact	9	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:72183988C>T	uc003kck.3	+	13	1534	c.1387C>T	c.(1387-1389)CGT>TGT	p.R463C	TNPO1_uc011csj.1_Missense_Mutation_p.R413C|TNPO1_uc003kch.2_Missense_Mutation_p.R455C|TNPO1_uc003kci.3_Missense_Mutation_p.R455C|TNPO1_uc003kcg.3_Missense_Mutation_p.R455C	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	463	HEAT 5.				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GGCTCTTGTGCGTTCCATAAC	0.463													T	72183988	C	T	72183988	3	4	27	1	0	0	0	0	1	0	0	0	16332	768	27	1	1437	1	TNPO1	5	72183988	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	10881	72183988	108731272	2694	26645											
UTP15	84135	broad.mit.edu	37	chr5	72864245	72864245	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tactgtttttcatcttgtagAttcacatttatggccgatac	6	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:72864245A>T	uc003kcw.1	+	4	407	c.184A>T	c.(184-186)ATT>TTT	p.I62F	UTP15_uc011cso.1_Missense_Mutation_p.I43F|UTP15_uc011csp.1_5'UTR|UTP15_uc010ize.1_Missense_Mutation_p.I62F|ANKRA2_uc003kcu.1_5'Flank|ANKRA2_uc003kcv.2_5'Flank	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein,	62	WD 1.				rRNA processing	cytoplasm|nucleolus					0		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		CATCTTGTAGATTCACATTTA	0.328													T	72864245	A	T	72864245	3	4	27	1	0	0	0	0	1	0	0	0	17094	347	12	5	194	5	UTP15	5	72864245	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	680257	72864245	108051015	2695	26646											
UTP15	84135	broad.mit.edu	37	chr5	72873772	72873772	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaagaaggaatcacttcccaGaagaagaaggcctgcatatc	9	9	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:72873772G>T	uc003kcw.1	+	9	1209	c.986G>T	c.(985-987)AGA>ATA	p.R329I	UTP15_uc011cso.1_Missense_Mutation_p.R310I|UTP15_uc011csp.1_Missense_Mutation_p.R139I|UTP15_uc010ize.1_Missense_Mutation_p.R329I	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein,	329					rRNA processing	cytoplasm|nucleolus					0		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TCACTTCCCAGAAGAAGAAGG	0.353													T	72873772	G	T	72873772	3	4	27	1	0	0	0	0	1	0	0	0	17094	942	33	5	1016	5	UTP15	5	72873772	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	9527	72873772	108041488	2696	26647											
HMGCR	3156	broad.mit.edu	37	chr5	74646145	74646147	+	In_Frame_Del	DEL	AGA	AGA	-													agccattttgcccgagttttAgaagaagaagaaaataagcc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:74646144_74646146TAGA>T	uc011cst.2	+	7	1037_1039	c.785_787TAGA>T	c.(784-789)ttagaa>tTaa	p.E266del	HMGCR_uc003kdp.3_In_Frame_Del_p.E246del|HMGCR_uc003kdq.3_In_Frame_Del_p.E246del|HMGCR_uc010izn.1_Intron	NM_000859	NP_000850	P04035	HMDH_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA.	246					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GCCCGAGTTTTAGAAGAAGAAGA	0.409													-	74646147	AGA	-	74646145	7	5	27	1	0	1	0	1	0	0	0	0	7231	417	15	0	752	0	HMGCR	5	74646145	In_Frame_Del	DEL	AGA	TCGA-BR-6452-01A-12D-1800-08	1772373	74646145	106269115	2697	26648											
HMGCR	3156	broad.mit.edu	37	chr5	74646159	74646159	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agttttagaagaagaagaaaAtaagccgaatcctgtaactc	8	6	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:74646159A>T	uc003kdp.2	+	8	896	c.740A>T	c.(739-741)AAT>ATT	p.N247I	HMGCR_uc011cst.1_Missense_Mutation_p.N267I|HMGCR_uc003kdq.2_Missense_Mutation_p.N247I|HMGCR_uc010izn.1_Intron	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	247					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GAAGAAGAAAATAAGCCGAAT	0.403													T	74646159	A	T	74646159	3	4	27	1	0	0	0	0	1	0	0	0	7231	101	4	5	766	5	HMGCR	5	74646159	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	14	74646159	106269101	2698	26649											
HMGCR	3156	broad.mit.edu	37	chr5	74650443	74650443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcgtggtgtatctattcGccgacagttactttccaaga	10	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:74650443G>A	uc003kdp.2	+	12	1640	c.1484G>A	c.(1483-1485)CGC>CAC	p.R495H	HMGCR_uc011cst.1_Missense_Mutation_p.R515H|HMGCR_uc003kdq.2_Missense_Mutation_p.R495H	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	495	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GTATCTATTCGCCGACAGTTA	0.408													A	74650443	G	A	74650443	3	1	27	1	0	0	0	0	1	0	0	0	7231	1087	38	1	1526	1	HMGCR	5	74650443	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4284	74650443	106264817	2699	26650											
IQGAP2	10788	broad.mit.edu	37	chr5	75950035	75950035	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacctttcagattcagtcctGgttccgaatggcaactgcaa	8	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:75950035G>T	uc003kek.2	+	19	2411	c.2189G>T	c.(2188-2190)TGG>TTG	p.W730L	IQGAP2_uc010izv.2_Missense_Mutation_p.W283L|IQGAP2_uc011csv.1_Missense_Mutation_p.W226L|IQGAP2_uc003kel.2_Missense_Mutation_p.W226L	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	730	IQ 2.				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)		ATTCAGTCCTGGTTCCGAATG	0.343													T	75950035	G	T	75950035	3	4	27	1	0	0	0	0	1	0	0	0	7815	1357	47	5	2263	5	IQGAP2	5	75950035	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1299592	75950035	104965225	2700	26651											
IQGAP2	10788	broad.mit.edu	37	chr5	75954306	75954306	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgaaaacccaccattAacagtaattcgcaaatttgt	6	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:75954306A>G	uc003kek.2	+	21	2565	c.2343A>G	c.(2341-2343)TTA>TTG	p.L781L	IQGAP2_uc010izv.2_Silent_p.L334L|IQGAP2_uc011csv.1_Silent_p.L277L|IQGAP2_uc003kel.2_Silent_p.L277L	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	781					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)		ACCCACCATTAACAGTAATTC	0.398													G	75954306	A	G	75954306	2	3	27	1	0	0	0	0	0	0	0	1	7815	359	13	3		3	IQGAP2	5	75954306	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4271	75954306	104960954	2701	26652											
IQGAP2	10788	broad.mit.edu	37	chr5	75991429	75991429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaggaatcttcggacgttgGaacagactggacacgtgtca	13	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:75991429G>A	uc003kek.2	+	32	4366	c.4144G>A	c.(4144-4146)GAA>AAA	p.E1382K	IQGAP2_uc011csv.1_Missense_Mutation_p.E878K|IQGAP2_uc003kel.2_Missense_Mutation_p.E878K|IQGAP2_uc010izw.1_Missense_Mutation_p.E83K	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1382					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)		TCGGACGTTGGAACAGACTGG	0.388													A	75991429	G	A	75991429	3	1	27	1	0	0	0	0	1	0	0	0	7815	1175	41	4	4270	4	IQGAP2	5	75991429	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	37123	75991429	104923831	2702	26653											
F2R	2149	broad.mit.edu	37	chr5	76029054	76029054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaacgtcctcctgattgCgcattactcattcctttctc	4	15	2	1	rs17849599		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:76029054C>T	uc003ken.3	+	2	1269	c.1004C>T	c.(1003-1005)GCG>GTG	p.A335V		NM_001992	NP_001983	P25116	PAR1_HUMAN	coagulation factor II receptor precursor	335	Extracellular (Potential).				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			ovary(3)	3		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CTCCTGATTGCGCATTACTCA	0.527													T	76029054	C	T	76029054	3	4	27	1	0	0	0	0	1	0	0	0	5343	768	27	1	1010	1	F2R	5	76029054	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	37625	76029054	104886206	2703	26654											
PDE8B	8622	broad.mit.edu	37	chr5	76621393	76621393	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctttgcaaaggaagatagTcagagcgatggcttctggtg	13	6	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:76621393T>C	uc003kfa.2	+	3	474	c.429T>C	c.(427-429)AGT>AGC	p.S143S	PDE8B_uc003kfb.2_Silent_p.S123S|PDE8B_uc003kfc.2_Silent_p.S143S|PDE8B_uc003kfd.2_Silent_p.S143S|PDE8B_uc003kfe.2_Silent_p.S143S	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	143					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		AGGAAGATAGTCAGAGCGATG	0.423													C	76621393	T	C	76621393	2	2	27	1	0	0	0	0	0	0	0	1	11654	1664	58	3		3	PDE8B	5	76621393	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	592339	76621393	104293867	2704	26655											
WDR41	55255	broad.mit.edu	37	chr5	76729042	76729042	+	Frame_Shift_Del	DEL	T	T	-													atccagattctcgctctccaTttttccacaaaataatgaga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:76729041_76729041AT>A	uc003kff.1	-	12	1586	c.1299_1299AT>T	c.(1297-1299)aatfs	p.N433fs	WDR41_uc011csy.1_Frame_Shift_Del_p.N375fs|WDR41_uc011csz.1_Frame_Shift_Del_p.N378fs	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	Homo sapiens WD repeat domain 41 (WDR41), mRNA.	433										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		CTCGCTCTCCATTTTTCCACA	0.338													-	76729042	T	-	76729042	7	5	27	1	0	1	0	1	0	0	0	0	17291	1493	52	0	85	0	WDR41	5	76729042	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	107649	76729042	104186218	2705	26656											
AP3B1	8546	broad.mit.edu	37	chr5	77316593	77316593	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtggctgaatattaacaTtgaagcaatcatccttggta	9	7	1	2	rs139968311	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:77316593T>G	uc003kfj.2	-	25	3040	c.2915A>C	c.(2914-2916)AAT>ACT	p.N972T		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	972					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		AATATTAACATTGAAGCAATC	0.343									Hermansky-Pudlak_syndrome				G	77316593	T	G	77316593	3	3	27	1	0	0	0	0	1	0	0	0	744	1493	52	5	381	5	AP3B1	5	77316593	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	587551	77316593	103598667	2706	26657											
DMGDH	29958	broad.mit.edu	37	chr5	78324268	78324268	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatcttaccagtataagataTcctaatagcagtgacaggaa	7	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:78324268T>A	uc003kfs.2	-	12	2026	c.2020A>T	c.(2020-2022)ATA>TTA	p.I674L	DMGDH_uc011cte.1_Missense_Mutation_p.I524L|DMGDH_uc011ctf.1_Missense_Mutation_p.I473L|DMGDH_uc011ctg.1_Missense_Mutation_p.I294L	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	674					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GTATAAGATATCCTAATAGCA	0.323													A	78324268	T	A	78324268	3	1	27	1	0	0	0	0	1	0	0	0	4581	1435	50	5	600	5	DMGDH	5	78324268	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1007675	78324268	102590992	2707	26658											
BHMT2	23743	broad.mit.edu	37	chr5	78375267	78375267	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taccttttctgccagtgaggAcaatatggaaagcaaggtaa	10	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:78375267A>T	uc003kft.2	+	3	265	c.242A>T	c.(241-243)GAC>GTC	p.D81V	BHMT2_uc011cth.1_Missense_Mutation_p.D81V	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	betaine-homocysteine methyltransferase 2	81	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GCCAGTGAGGACAATATGGAA	0.408													T	78375267	A	T	78375267	3	4	27	1	0	0	0	0	1	0	0	0	1426	275	10	5	252	5	BHMT2	5	78375267	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	50999	78375267	102539993	2708	26659											
BHMT2	23743	broad.mit.edu	37	chr5	78376559	78376559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgccagggaagtggctgGcaaaggtgatgctttggtag	16	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:78376559G>A	uc003kft.2	+	4	331	c.308G>A	c.(307-309)GGC>GAC	p.G103D	BHMT2_uc011cth.1_Intron	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	betaine-homocysteine methyltransferase 2	103	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GAAGTGGCTGGCAAAGGTGAT	0.458													A	78376559	G	A	78376559	3	1	27	1	0	0	0	0	1	0	0	0	1426	1203	42	2	322	2	BHMT2	5	78376559	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1292	78376559	102538701	2709	26660											
CMYA5	202333	broad.mit.edu	37	chr5	79025398	79025398	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcatccattagtctagaGccagatttggacaatagtgg	11	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:79025398G>A	uc003kgc.2	+	2	882	c.810G>A	c.(808-810)GAG>GAA	p.E270E		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	270						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTAGTCTAGAGCCAGATTTGG	0.353													A	79025398	G	A	79025398	2	1	27	1	0	0	0	0	0	0	0	1	3590	962	34	2		2	CMYA5	5	79025398	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	648839	79025398	101889862	2710	26661											
CMYA5	202333	broad.mit.edu	37	chr5	79025453	79025453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaacacgcaaattagtaGcccaaagcatagaggataaa	7	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:79025453G>A	uc003kgc.2	+	2	937	c.865G>A	c.(865-867)GCC>ACC	p.A289T		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	289						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAAATTAGTAGCCCAAAGCAT	0.408													A	79025453	G	A	79025453	3	1	27	1	0	0	0	0	1	0	0	0	3590	971	34	2	871	2	CMYA5	5	79025453	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	55	79025453	101889807	2711	26662											
CMYA5	202333	broad.mit.edu	37	chr5	79030209	79030209	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcatttatgacaaccaagcCtgcggatgtcaaagaaacaa	7	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:79030209C>A	uc003kgc.2	+	2	5693	c.5621C>A	c.(5620-5622)CCT>CAT	p.P1874H		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1874						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACAACCAAGCCTGCGGATGTC	0.368													A	79030209	C	A	79030209	3	1	27	1	0	0	0	0	1	0	0	0	3590	681	24	5	5627	5	CMYA5	5	79030209	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4756	79030209	101885051	2712	26663											
CMYA5	202333	broad.mit.edu	37	chr5	79031080	79031080	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaccaaaggtggctaagccGgaccttcctgaggaaaaggg	13	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:79031080G>T	uc003kgc.2	+	2	6564	c.6492G>T	c.(6490-6492)CCG>CCT	p.P2164P		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2164						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGGCTAAGCCGGACCTTCCTG	0.458													T	79031080	G	T	79031080	2	4	27	1	0	0	0	0	0	0	0	1	3590	1103	39	5		5	CMYA5	5	79031080	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	871	79031080	101884180	2713	26664											
CMYA5	202333	broad.mit.edu	37	chr5	79032520	79032520	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggctctttcttgtcgtgaTgaaatagagaaccactcttt	9	8	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:79032520T>C	uc003kgc.2	+	2	8004	c.7932T>C	c.(7930-7932)GAT>GAC	p.D2644D		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2644						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTTGTCGTGATGAAATAGAGA	0.408													C	79032520	T	C	79032520	2	2	27	1	0	0	0	0	0	0	0	1	3590	1461	51	3		3	CMYA5	5	79032520	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1440	79032520	101882740	2714	26665											
CMYA5	202333	broad.mit.edu	37	chr5	79084905	79084905	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggacaagtgaacagagtgaAgctgctctcatctccaccag	11	11	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:79084905A>G	uc003kgc.2	+	10	11739	c.11667A>G	c.(11665-11667)GAA>GAG	p.E3889E		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3889	Fibronectin type-III 2.|B30.2/SPRY.					perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACAGAGTGAAGCTGCTCTCA	0.453													G	79084905	A	G	79084905	2	3	27	1	0	0	0	0	0	0	0	1	3590	69	3	3		3	CMYA5	5	79084905	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	52385	79084905	101830355	2715	26666											
MSH3	4437	broad.mit.edu	37	chr5	80064662	80064662	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgattttttagagttggggAtaaaactgaattatttaaag	9	1	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:80064662A>G	uc003kgz.2	+	15	2346	c.2093A>G	c.(2092-2094)GAT>GGT	p.D698G		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	698					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		AGAGTTGGGGATAAAACTGAA	0.308								MMR					G	80064662	A	G	80064662	3	3	27	1	0	0	0	0	1	0	0	0	9871	333	12	3	2151	3	MSH3	5	80064662	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	979757	80064662	100850598	2716	26667											
RASGRF2	5924	broad.mit.edu	37	chr5	80381689	80381689	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgagcatgtggaaaggaaAagcctggagtttgccaaatc	12	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:80381689A>G	uc003kha.1	+	8	1230	c.1230A>G	c.(1228-1230)AAA>AAG	p.K410K	RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Silent_p.K238K	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	410	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGGAAAGGAAAAGCCTGGAGT	0.458													G	80381689	A	G	80381689	2	3	27	1	0	0	0	0	0	0	0	1	13073	11	1	3		3	RASGRF2	5	80381689	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	317027	80381689	100533571	2717	26668											
RASGRF2	5924	broad.mit.edu	37	chr5	80521507	80521507	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttttcaggtcgcacagtActtgcttgacaaagacctta	7	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:80521507A>G	uc003kha.1	+	27	3632	c.3632A>G	c.(3631-3633)TAC>TGC	p.Y1211C	RNU5E_uc011cto.1_Intron|RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	1211	Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GTCGCACAGTACTTGCTTGAC	0.428													G	80521507	A	G	80521507	3	3	27	1	0	0	0	0	1	0	0	0	13073	391	14	3	3738	3	RASGRF2	5	80521507	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	139818	80521507	100393753	2718	26669											
CKMT2	1160	broad.mit.edu	37	chr5	80559317	80559317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctttgtcctaggacccacGcttttctaagatcctggaaa	7	13	1	1	rs148114477		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:80559317G>A	uc003khc.3	+	10	1264	c.1022G>A	c.(1021-1023)CGC>CAC	p.R341H	RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Missense_Mutation_p.R341H|CKMT2_uc003khd.3_Missense_Mutation_p.R341H|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	sarcomeric mitochondrial creatine kinase	341	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	TAGGACCCACGCTTTTCTAAG	0.438													A	80559317	G	A	80559317	3	1	27	1	0	0	0	0	1	0	0	0	3451	1087	38	1	1052	1	CKMT2	5	80559317	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	37810	80559317	100355943	2719	26670											
ACOT12	134526	broad.mit.edu	37	chr5	80626717	80626717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgtggagacggggggacCgatggcaaaatgaccgactt	15	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:80626717C>T	uc003khl.3	-	14	1489	c.1434G>A	c.(1432-1434)TCG>TCA	p.S478S	RNU5E_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	478	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(1)|kidney(1)	2		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		ACGGGGGGACCGATGGCAAAA	0.398													T	80626717	C	T	80626717	2	4	27	1	0	0	0	0	0	0	0	1	150	639	23	1		1	ACOT12	5	80626717	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	67400	80626717	100288543	2720	26671											
SSBP2	23635	broad.mit.edu	37	chr5	80769592	80769592	+	Splice_Site	DEL	A	A	-													cacccatatttggatgtcctAaaaaaagtatgaagacatta							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:80769591_80769591TA>T	uc003khp.3	-	8	711	c.500_splice	c.e8-1	p.G167_splice	SSBP2_uc003khn.3_Splice_Site_p.G41_splice|SSBP2_uc011ctr.2_Splice_Site_p.G137_splice|SSBP2_uc003kho.3_Splice_Site_p.G167_splice|SSBP2_uc011ctp.2_Splice_Site_p.G147_splice|SSBP2_uc011ctq.2_Splice_Site_p.G137_splice	NM_012446	NP_036578	P81877	SSBP2_HUMAN	Homo sapiens single-stranded DNA binding protein 2 (SSBP2), mRNA.	167	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TTGGATGTCCTAAAAAAAGTA	0.428													-	80769592	A	-	80769592	8	5	27	1	0	1	0	1	0	0	1	0	15179	377	13	0		0	SSBP2	5	80769592	Splice_Site	DEL	A	TCGA-BR-6452-01A-12D-1800-08	142875	80769592	100145668	2721	26672											
ATG10	83734	broad.mit.edu	37	chr5	81474333	81474333	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagacctttaactctgaaggAcatatgggaaggagttcatg	12	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:81474333A>G	uc003khs.2	+	6	809	c.380A>G	c.(379-381)GAC>GGC	p.D127G	ATG10_uc003khr.2_Missense_Mutation_p.D127G|ATG10_uc010jas.2_Missense_Mutation_p.D91G	NM_001131028	NP_001124500	Q9H0Y0	ATG10_HUMAN	APG10 autophagy 10-like	127					autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding				0		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		ACTCTGAAGGACATATGGGAA	0.418													G	81474333	A	G	81474333	3	3	27	1	0	0	0	0	1	0	0	0	1089	275	10	3	394	3	ATG10	5	81474333	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	704741	81474333	99440927	2722	26673											
ATP6AP1L	92270	broad.mit.edu	37	chr5	81614007	81614007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcatcgcctctcctgcccActtctcgcagctgaaagctc	6	18	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:81614007A>G	uc003khv.2	+	10	1888	c.563A>G	c.(562-564)CAC>CGC	p.H188R	ATP6AP1L_uc003khw.2_Missense_Mutation_p.H188R	NM_001017971	NP_001017971	Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory	188					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						TCTCCTGCCCACTTCTCGCAG	0.537													G	81614007	A	G	81614007	3	3	27	1	0	0	0	0	1	0	0	0	1166	159	6	3	577	3	ATP6AP1L	5	81614007	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	139674	81614007	99301253	2723	26674											
XRCC4	7518	broad.mit.edu	37	chr5	82400807	82400807	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcattttctacaagtatcTtgggagaaaacactggaatc	7	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:82400807T>C	uc003kib.2	+	2	197	c.69T>C	c.(67-69)TCT>TCC	p.S23S	XRCC4_uc003kia.1_Silent_p.S23S|XRCC4_uc003kid.2_Silent_p.S23S|XRCC4_uc003kic.2_Silent_p.S23S|XRCC4_uc003kie.2_Silent_p.S23S|XRCC4_uc003kif.1_Silent_p.S23S	NM_022406	NP_071801	Q13426	XRCC4_HUMAN	X-ray repair cross complementing protein 4	23					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			skin(3)	3		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TACAAGTATCTTGGGAGAAAA	0.338								NHEJ					C	82400807	T	C	82400807	2	2	27	1	0	0	0	0	0	0	0	1	17452	1596	56	3		3	XRCC4	5	82400807	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	786800	82400807	98514453	2724	26675											
XRCC4	7518	broad.mit.edu	37	chr5	82491701	82491701	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatcaagccaaaaatgagcAcctgcagaaagaaaatgaaa	7	7	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:82491701A>G	uc003kib.2	+	4	556	c.428A>G	c.(427-429)CAC>CGC	p.H143R	XRCC4_uc003kia.1_Missense_Mutation_p.H143R|XRCC4_uc003kid.2_Missense_Mutation_p.H143R|XRCC4_uc003kic.2_Missense_Mutation_p.H143R|XRCC4_uc003kie.2_Missense_Mutation_p.H143R|XRCC4_uc003kif.1_Missense_Mutation_p.H143R	NM_022406	NP_071801	Q13426	XRCC4_HUMAN	X-ray repair cross complementing protein 4	143	Potential.				DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			skin(3)	3		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		AAAAATGAGCACCTGCAGAAA	0.398								NHEJ					G	82491701	A	G	82491701	3	3	27	1	0	0	0	0	1	0	0	0	17452	159	6	3	438	3	XRCC4	5	82491701	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	90894	82491701	98423559	2725	26676											
VCAN	1462	broad.mit.edu	37	chr5	82779373	82779373	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagagcatcttatggatgtgTtcaaccttaatagtaaccca	7	8	2	1	rs113090098		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:82779373T>A	uc003kii.3	+	2	392	c.36T>A	c.(34-36)TGT>TGA	p.C12*	VCAN_uc003kij.3_Nonsense_Mutation_p.C12*|VCAN_uc010jau.2_Nonsense_Mutation_p.C12*|VCAN_uc003kik.3_Nonsense_Mutation_p.C12*|VCAN_uc003kih.3_Nonsense_Mutation_p.C12*	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	12					cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TATGGATGTGTTCAACCTTAA	0.338													A	82779373	T	A	82779373	4	1	27	1	0	0	0	0	0	1	0	0	17135	1731	60	5	38	5	VCAN	5	82779373	Nonsense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	287672	82779373	98135887	2726	26677											
VCAN	1462	broad.mit.edu	37	chr5	82815597	82815597	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatcggttacacagattgAacaaatagaagtgggtcctt	10	6	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:82815597A>G	uc003kii.3	+	7	1828	c.1472A>G	c.(1471-1473)GAA>GGA	p.E491G	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.E491G|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	491	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACACAGATTGAACAAATAGAA	0.418													G	82815597	A	G	82815597	3	3	27	1	0	0	0	0	1	0	0	0	17135	246	9	3	1494	3	VCAN	5	82815597	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	36224	82815597	98099663	2727	26678											
RASA1	5921	broad.mit.edu	37	chr5	86659208	86659208	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatattttatcttagagggTagtgatgcccaacttattta	7	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:86659208T>C	uc003kiw.2	+	11	1615	c.1497T>C	c.(1495-1497)GGT>GGC	p.G499G	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Silent_p.G322G|RASA1_uc011ctv.1_Silent_p.G332G|RASA1_uc011ctw.1_Silent_p.G333G|RASA1_uc010jaw.2_Silent_p.G321G	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	499	PH.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TCTTAGAGGGTAGTGATGCCC	0.308													C	86659208	T	C	86659208	2	2	27	1	0	0	0	0	0	0	0	1	13060	1625	57	3		3	RASA1	5	86659208	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3843611	86659208	94256052	2728	26679											
TMEM161B	153396	broad.mit.edu	37	chr5	87494828	87494828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccgtgcttattcgccccgCttctttcttcatctgatcca	5	15	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:87494828C>T	uc003kjc.2	-	10	1179	c.1054G>A	c.(1054-1056)GCG>ACG	p.A352T	TMEM161B_uc011cty.1_Missense_Mutation_p.A341T|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctx.1_Missense_Mutation_p.A143T	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	352						integral to membrane				skin(2)	2		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		ATTCGCCCCGCTTCTTTCTTC	0.378													T	87494828	C	T	87494828	3	4	27	1	0	0	0	0	1	0	0	0	16074	797	28	2	421	2	TMEM161B	5	87494828	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	835620	87494828	93420432	2729	26680											
MEF2C	4208	broad.mit.edu	37	chr5	88027692	88027692	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagaccagcagacctggtgAgtttcggggattgccatacc	13	10	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:88027692A>G	uc003kjj.2	-	7	1337	c.664T>C	c.(664-666)TCA>CCA	p.S222P	MEF2C_uc003kji.2_Missense_Mutation_p.S222P|MEF2C_uc003kjk.2_Missense_Mutation_p.S222P|MEF2C_uc003kjm.2_Missense_Mutation_p.S220P|MEF2C_uc003kjl.2_Missense_Mutation_p.S240P	NM_002397	NP_002388	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C isoform 1	222					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(3)|breast(2)|ovary(1)|large_intestine(1)	7		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		AGACCTGGTGAGTTTCGGGGA	0.403										HNSCC(66;0.2)			G	88027692	A	G	88027692	3	3	27	1	0	0	0	0	1	0	0	0	9457	304	11	3	777	3	MEF2C	5	88027692	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	532864	88027692	92887568	2730	26681											
GPR98	84059	broad.mit.edu	37	chr5	89923354	89923354	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacacaactgttgttttTccaccttttattcatgaatc	3	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:89923354T>C	uc003kju.2	+	7	1095	c.999T>C	c.(997-999)TTT>TTC	p.F333F	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	333	Calx-beta 3.|Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTGTTGTTTTTCCACCTTTTA	0.378													C	89923354	T	C	89923354	2	2	27	1	0	0	0	0	0	0	0	1	6721	1780	62	3		3	GPR98	5	89923354	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1895662	89923354	90991906	2731	26682											
GPR98	84059	broad.mit.edu	37	chr5	89940532	89940532	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatttcacagctgtttatgAtgtagtaagaaatcgaggca	9	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:89940532A>G	uc003kju.2	+	15	2840	c.2744A>G	c.(2743-2745)GAT>GGT	p.D915G	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	915	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTGTTTATGATGTAGTAAGA	0.328													G	89940532	A	G	89940532	3	3	27	1	0	0	0	0	1	0	0	0	6721	333	12	3	2802	3	GPR98	5	89940532	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	17178	89940532	90974728	2732	26683											
GPR98	84059	broad.mit.edu	37	chr5	90052421	90052421	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaaaatgacgatcccagaGgaatttttatgtttcatgtt	8	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:90052421G>T	uc003kju.2	+	56	11827	c.11731G>T	c.(11731-11733)GGA>TGA	p.G3911*	GPR98_uc003kjt.2_Nonsense_Mutation_p.G1617*|GPR98_uc003kjv.2_Nonsense_Mutation_p.G1511*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3911	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CGATCCCAGAGGAATTTTTAT	0.423													T	90052421	G	T	90052421	4	4	27	1	0	0	0	0	0	1	0	0	6721	1001	35	5	11953	5	GPR98	5	90052421	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	111889	90052421	90862839	2733	26684											
NR2F1	7025	broad.mit.edu	37	chr5	92923678	92923678	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatccaggccagtacgcactCaccaacggggaccccctcaa	8	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:92923678C>T	uc003kkj.2	+	2	2206	c.519C>T	c.(517-519)CTC>CTT	p.L173L		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	173					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		AGTACGCACTCACCAACGGGG	0.612													T	92923678	C	T	92923678	2	4	27	1	0	0	0	0	0	0	0	1	10627	813	29	4		4	NR2F1	5	92923678	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2871257	92923678	87991582	2734	26685											
ANKRD32	84250	broad.mit.edu	37	chr5	94030751	94030751	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taaatttttgttcaatttttGatttatcttcagagttcatt	4	4	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:94030751G>A	uc003kkr.3	+	21	2991	c.2911G>A	c.(2911-2913)GAT>AAT	p.D971N	ANKRD32_uc003kks.2_Missense_Mutation_p.D335N	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	971										ovary(2)	2		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TTCAATTTTTGATTTATCTTC	0.333													A	94030751	G	A	94030751	3	1	27	1	0	0	0	0	1	0	0	0	660	1290	45	4	2989	4	ANKRD32	5	94030751	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1107073	94030751	86884509	2735	26686											
FAM81B	153643	broad.mit.edu	37	chr5	94731831	94731831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaggtaagattatctccagCcaaaatgtcaaccaagaatt	6	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:94731831C>T	uc003kla.1	+	3	291	c.245C>T	c.(244-246)GCC>GTC	p.A82V	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	hypothetical protein LOC153643	82										ovary(1)|skin(1)	2		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TTATCTCCAGCCAAAATGTCA	0.294													T	94731831	C	T	94731831	3	4	27	1	0	0	0	0	1	0	0	0	5629	739	26	2	255	2	FAM81B	5	94731831	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	701080	94731831	86183429	2736	26687											
FAM81B	153643	broad.mit.edu	37	chr5	94782312	94782312	+	Frame_Shift_Del	DEL	A	A	-													acgaagaagttgagaataatAaaaaatggacagaaaaccaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:94782311_94782311TA>T	uc003kla.1	+	7	985	c.939_939TA>T	c.(937-939)aatfs	p.N313fs	FAM81B_uc010jbe.1_Frame_Shift_Del_p.N109fs	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	313										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TTGAGAATAATAAAAAATGGA	0.299													-	94782312	A	-	94782312	7	5	27	1	0	1	0	1	0	0	0	0	5629	363	13	0	970	0	FAM81B	5	94782312	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	50481	94782312	86132948	2737	26688											
TTC37	9652	broad.mit.edu	37	chr5	94826671	94826671	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatcctctttggctgagtgTtgttcactaaggccagttta	9	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:94826671T>C	uc003klb.2	-	37	4142	c.3872A>G	c.(3871-3873)AAC>AGC	p.N1291S		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1291							binding			ovary(3)|pancreas(1)	4						TGGCTGAGTGTTGTTCACTAA	0.398													C	94826671	T	C	94826671	3	2	27	1	0	0	0	0	1	0	0	0	16702	1725	60	3	850	3	TTC37	5	94826671	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	44359	94826671	86088589	2738	26689											
TTC37	9652	broad.mit.edu	37	chr5	94849321	94849321	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaagagatccatggtgtcaTaacttccaactgcctcagca	8	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:94849321T>A	uc003klb.2	-	27	3002	c.2732A>T	c.(2731-2733)TAT>TTT	p.Y911F		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	911							binding			ovary(3)|pancreas(1)	4						CATGGTGTCATAACTTCCAAC	0.328													A	94849321	T	A	94849321	3	1	27	1	0	0	0	0	1	0	0	0	16702	1406	49	5	2030	5	TTC37	5	94849321	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	22650	94849321	86065939	2739	26690											
TTC37	9652	broad.mit.edu	37	chr5	94857846	94857846	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatttgcctaggatttgctgTattgctgcaaccttaaacac	7	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:94857846T>C	uc003klb.2	-	19	2193	c.1923A>G	c.(1921-1923)ATA>ATG	p.I641M	TTC37_uc010jbf.1_Missense_Mutation_p.I593M	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	641	TPR 11.						binding			ovary(3)|pancreas(1)	4						GGATTTGCTGTATTGCTGCAA	0.388													C	94857846	T	C	94857846	3	2	27	1	0	0	0	0	1	0	0	0	16702	1628	57	3	2871	3	TTC37	5	94857846	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	8525	94857846	86057414	2740	26691											
TTC37	9652	broad.mit.edu	37	chr5	94878927	94878927	+	Frame_Shift_Del	DEL	T	T	-													tctggctctaattcagcagcTtttttataggcactctgggc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:94878926_94878926CT>C	uc003klb.3	-	4	493	c.196_196AG>G	c.(196-198)gctfs	p.A66fs	TTC37_uc010jbf.2_Intron	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	66							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AATTCAGCAGCTTTTTTATAG	0.353													-	94878927	T	-	94878927	7	5	27	1	0	1	0	1	0	0	0	0	16702	1606	56	0	4655	0	TTC37	5	94878927	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	21081	94878927	86036333	2741	26692											
SPATA9	83890	broad.mit.edu	37	chr5	94994504	94994504	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacataggctccgaaagcacAggctcagaaaaggcttttct	9	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:94994504A>C	uc003klj.1	-	5	744	c.588T>G	c.(586-588)CCT>CCG	p.P196P	SPATA9_uc010jbh.1_RNA|SPATA9_uc003klh.1_RNA|SPATA9_uc003kli.1_RNA	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	196					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane					0		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CCGAAAGCACAGGCTCAGAAA	0.428													C	94994504	A	C	94994504	2	2	27	1	0	0	0	0	0	0	0	1	15015	175	7	5		5	SPATA9	5	94994504	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	115577	94994504	85920756	2742	26693											
ELL2	22936	broad.mit.edu	37	chr5	95249552	95249552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcctgggtcattctttctCgtgtcatctgatacgagtcg	10	11	5	1	rs146144447		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:95249552C>T	uc003klr.3	-	4	754	c.404G>A	c.(403-405)CGA>CAA	p.R135Q		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	135					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				central_nervous_system(1)	1		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CATTCTTTCTCGTGTCATCTG	0.448													T	95249552	C	T	95249552	3	4	27	1	0	0	0	0	1	0	0	0	5063	884	31	1	1554	1	ELL2	5	95249552	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	255048	95249552	85665708	2743	26694											
PCSK1	5122	broad.mit.edu	37	chr5	95746500	95746500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctctggtcggtgtaatctCcgctgctgtaagaggtggcc	13	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:95746500C>T	uc003kls.1	-	8	1279	c.1073G>A	c.(1072-1074)GGA>GAA	p.G358E	PCSK1_uc010jbi.1_Intron	NM_000439	NP_000430	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	358	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			ovary(2)	2		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTGTAATCTCCGCTGCTGTA	0.517													T	95746500	C	T	95746500	3	4	27	1	0	0	0	0	1	0	0	0	11600	855	30	4	1216	4	PCSK1	5	95746500	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	496948	95746500	85168760	2744	26695											
ERAP1	51752	broad.mit.edu	37	chr5	96139196	96139196	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catagtgaatgacaactgtgTacgggagcccgacaaggagg	14	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:96139196T>C	uc003kmm.2	-	2	781	c.434A>G	c.(433-435)TAC>TGC	p.Y145C	ERAP1_uc003kml.2_Missense_Mutation_p.Y145C|ERAP1_uc010jbm.1_Intron|ERAP1_uc003kmn.2_Missense_Mutation_p.Y145C	NM_001040458	NP_001035548	Q9NZ08	ERAP1_HUMAN	type 1 tumor necrosis factor receptor shedding	145	Lumenal (Potential).				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		GACAACTGTGTACGGGAGCCC	0.527													C	96139196	T	C	96139196	3	2	27	1	0	0	0	0	1	0	0	0	5203	1638	57	3	2496	3	ERAP1	5	96139196	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	392696	96139196	84776064	2745	26696											
ERAP2	64167	broad.mit.edu	37	chr5	96251474	96251474	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggataagttgcaagagGtttgtgactttctgttttta	10	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:96251474G>A	uc003kmq.2	+	18	3449	c.2739_splice	c.e18+1	p.E913_splice	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Splice_Site_p.E913_splice|ERAP2_uc003kmr.2_Splice_Site|ERAP2_uc003kms.2_Splice_Site_p.E862_splice|ERAP2_uc003kmu.2_Splice_Site	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2						antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GTTGCAAGAGGTTTGTGACTT	0.249													A	96251474	G	A	96251474	5	1	27	1	0	0	0	0	0	0	1	0	5204	1275	44	4	2806	4	ERAP2	5	96251474	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	112278	96251474	84663786	2746	26697											
RGMB	285704	broad.mit.edu	37	chr5	98129124	98129124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatcgatgacgggcagggCcaggtgtctgccatcctggg	16	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:98129124C>T	uc003knc.2	+	5	1506	c.1104C>T	c.(1102-1104)GGC>GGT	p.G368G		NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	RGM domain family, member B	327					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding				0		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		ACGGGCAGGGCCAGGTGTCTG	0.622													T	98129124	C	T	98129124	2	4	27	1	0	0	0	0	0	0	0	1	13281	726	26	2		2	RGMB	5	98129124	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1877650	98129124	82786136	2747	26698											
CHD1	1105	broad.mit.edu	37	chr5	98194704	98194704	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggattcaagttgctgtTttgatcactgttttgctaaa	10	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:98194704T>C	uc003knf.2	-	33	4688	c.4540A>G	c.(4540-4542)AAC>GAC	p.N1514D	CHD1_uc010jbn.2_Missense_Mutation_p.N240D	NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1514					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AAGTTGCTGTTTTGATCACTG	0.274													C	98194704	T	C	98194704	3	2	27	1	0	0	0	0	1	0	0	0	3323	1841	64	3	604	3	CHD1	5	98194704	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	65580	98194704	82720556	2748	26699											
SLCO4C1	353189	broad.mit.edu	37	chr5	101606335	101606335	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agagtaaacttacctatataGagagaagacttgtgtgtggg	12	4	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:101606335G>A	uc003knm.2	-	3	1082	c.795C>T	c.(793-795)CTC>CTT	p.L265L		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	265	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TACCTATATAGAGAGAAGACT	0.373													A	101606335	G	A	101606335	2	1	27	1	0	0	0	0	0	0	0	1	14730	929	33	4		4	SLCO4C1	5	101606335	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3411631	101606335	79308925	2749	26700											
SLCO4C1	353189	broad.mit.edu	37	chr5	101627089	101627089	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattctccactgaaaaattGtggcaatgagaatacaagtg	8	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:101627089G>A	uc003knm.2	-	2	864	c.577C>T	c.(577-579)CAA>TAA	p.Q193*		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	193	Helical; Name=3; (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CTGAAAAATTGTGGCAATGAG	0.358													A	101627089	G	A	101627089	4	1	27	1	0	0	0	0	0	1	0	0	14730	1386	48	4	1645	4	SLCO4C1	5	101627089	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	20754	101627089	79288171	2750	26701											
SLCO6A1	133482	broad.mit.edu	37	chr5	101755728	101755728	+	Splice_Site	DEL	A	A	-													ctggaattaaaacaagtcctAaaaaaaaggaggagaaaaac							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:101755727_101755727TA>T	uc003knn.3	-	8	1449	c.1277_splice	c.e8-1	p.G426_splice	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Splice_Site_p.G426_splice|SLCO6A1_uc003knq.3_Splice_Site_p.G364_splice	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	426						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAACAAGTCCTAAAAAAAAGG	0.343													-	101755728	A	-	101755728	8	5	27	1	0	1	0	1	0	0	1	0	14732	377	13	0		0	SLCO6A1	5	101755728	Splice_Site	DEL	A	TCGA-BR-6452-01A-12D-1800-08	128639	101755728	79159532	2751	26702											
SLCO6A1	133482	broad.mit.edu	37	chr5	101774410	101774410	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagctccaataataactaaaTattctgtagcttttgacaga	5	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:101774410T>C	uc003knn.2	-	7	1359	c.1187A>G	c.(1186-1188)TAT>TGT	p.Y396C	SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.Y396C|SLCO6A1_uc003knq.2_Missense_Mutation_p.Y334C	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	396	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AATAACTAAATATTCTGTAGC	0.289													C	101774410	T	C	101774410	3	2	27	1	0	0	0	0	1	0	0	0	14732	1406	49	3	1000	3	SLCO6A1	5	101774410	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	18682	101774410	79140850	2752	26703											
PPIP5K2	23262	broad.mit.edu	37	chr5	102509634	102509634	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaccagtgaaagtcatgtAcattctttgctgtctattct	6	8	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:102509634A>G	uc003kod.3	+	21	3006	c.2487A>G	c.(2485-2487)GTA>GTG	p.V829V	PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Silent_p.V829V|PPIP5K2_uc003kof.2_Silent_p.V130V	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	829					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)|skin(1)	2						AAAGTCATGTACATTCTTTGC	0.318													G	102509634	A	G	102509634	2	3	27	1	0	0	0	0	0	0	0	1	12333	378	14	3		3	PPIP5K2	5	102509634	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	735224	102509634	78405626	2753	26704											
EFNA5	1946	broad.mit.edu	37	chr5	106763092	106763092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtagccatcaaagttcaCcatgtagaggacatagcgct	9	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:106763092C>T	uc003kol.2	-	2	526	c.244G>A	c.(244-246)GTG>ATG	p.V82M	EFNA5_uc010jbr.1_Missense_Mutation_p.V82M	NM_001962	NP_001953	P52803	EFNA5_HUMAN	ephrin-A5 precursor	82					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding				0		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		TCAAAGTTCACCATGTAGAGG	0.488													T	106763092	C	T	106763092	3	4	27	1	0	0	0	0	1	0	0	0	4954	507	18	4	458	4	EFNA5	5	106763092	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4253458	106763092	74152168	2754	26705											
FER	2241	broad.mit.edu	37	chr5	108290576	108290576	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgggaaacctggtgaataTgtcctttctgtatattctga	9	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:108290576T>C	uc003kop.1	+	12	1860	c.1476T>C	c.(1474-1476)TAT>TAC	p.Y492Y	FER_uc011cvf.1_Intron|FER_uc011cvg.1_Silent_p.Y317Y	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	492	SH2.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		CTGGTGAATATGTCCTTTCTG	0.368													C	108290576	T	C	108290576	2	2	27	1	0	0	0	0	0	0	0	1	5813	1471	51	3		3	FER	5	108290576	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1527484	108290576	72624684	2755	26706											
FER	2241	broad.mit.edu	37	chr5	108523190	108523190	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatttccaaaatcatgatgAagtgttgggattataaacct	7	5	1	2	rs149517787		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:108523190A>G	uc003kop.1	+	20	2767	c.2383A>G	c.(2383-2385)AAG>GAG	p.K795E	FER_uc011cvg.1_Missense_Mutation_p.K620E	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	795	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AATCATGATGAAGTGTTGGGA	0.433													G	108523190	A	G	108523190	3	3	27	1	0	0	0	0	1	0	0	0	5813	247	9	3	2453	3	FER	5	108523190	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	232614	108523190	72392070	2756	26707											
FER	2241	broad.mit.edu	37	chr5	108523233	108523233	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatcgccctaagttcagtgAacttcagaaagagctcacta	7	10	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:108523233A>G	uc003kop.1	+	20	2810	c.2426A>G	c.(2425-2427)GAA>GGA	p.E809G	FER_uc011cvg.1_Missense_Mutation_p.E634G	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	809	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AAGTTCAGTGAACTTCAGAAA	0.453													G	108523233	A	G	108523233	3	3	27	1	0	0	0	0	1	0	0	0	5813	246	9	3	2496	3	FER	5	108523233	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	43	108523233	72392027	2757	26708											
PJA2	9867	broad.mit.edu	37	chr5	108698724	108698724	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttccaaggatgtctgttccCtagtacaaacattttaaagg	7	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:108698724C>A	uc003kos.3	-	6	1690	c.1470_splice	c.e6-1	p.G490_splice		NM_014819	NP_055634	O43164	PJA2_HUMAN	praja 2, RING-H2 motif containing						long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TGTCTGTTCCCTAGTACAAAC	0.343													A	108698724	C	A	108698724	5	1	27	1	0	0	0	0	0	0	1	0	11962	695	24	5	677	5	PJA2	5	108698724	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	175491	108698724	72216536	2758	26709											
PJA2	9867	broad.mit.edu	37	chr5	108717314	108717314	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggtttaaaactgacataaGcatgtcttcttccatatctc	5	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:108717314G>T	uc003kos.3	-	3	342	c.122C>A	c.(121-123)GCT>GAT	p.A41D		NM_014819	NP_055634	O43164	PJA2_HUMAN	praja 2, RING-H2 motif containing	41					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		ACTGACATAAGCATGTCTTCT	0.433													T	108717314	G	T	108717314	3	4	27	1	0	0	0	0	1	0	0	0	11962	971	34	5	2036	5	PJA2	5	108717314	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	18590	108717314	72197946	2759	26710											
MAN2A1	4124	broad.mit.edu	37	chr5	109049437	109049437	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgacactgcagactgtctgTttgcttcacaaagtggaagt	10	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:109049437T>C	uc003kou.1	+	2	1315	c.352T>C	c.(352-354)TTT>CTT	p.F118L		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	118	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AGACTGTCTGTTTGCTTCACA	0.398													C	109049437	T	C	109049437	3	2	27	1	0	0	0	0	1	0	0	0	9214	1725	60	3	358	3	MAN2A1	5	109049437	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	332123	109049437	71865823	2760	26711											
CAMK4	814	broad.mit.edu	37	chr5	110712562	110712562	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatatctttccctagataaAacttaaagagatatttgaaa	4	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:110712562A>G	uc011cvj.1	+	5	407	c.308A>G	c.(307-309)AAA>AGA	p.K103R	CAMK4_uc003kpf.2_Missense_Mutation_p.K103R|CAMK4_uc010jbv.2_Intron	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	103	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CCCTAGATAAAACTTAAAGAG	0.338													G	110712562	A	G	110712562	3	3	27	1	0	0	0	0	1	0	0	0	2605	14	1	3	322	3	CAMK4	5	110712562	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1663125	110712562	70202698	2761	26712											
CAMK4	814	broad.mit.edu	37	chr5	110730432	110730432	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaaagggatattacagTgagcgagatgctgcagatgc	15	5	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:110730432T>C	uc011cvj.1	+	6	510	c.411T>C	c.(409-411)AGT>AGC	p.S137S	CAMK4_uc003kpf.2_Silent_p.S137S|CAMK4_uc010jbv.2_5'UTR	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	137	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GATATTACAGTGAGCGAGATG	0.378													C	110730432	T	C	110730432	2	2	27	1	0	0	0	0	0	0	0	1	2605	1693	59	3		3	CAMK4	5	110730432	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	17870	110730432	70184828	2762	26713											
EPB41L4A	64097	broad.mit.edu	37	chr5	111500719	111500719	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgaggcgggaagcttgtaTagtttttattgtttttgctg	12	4	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:111500719T>C	uc003kpv.1	-	23	2303	c.2029A>G	c.(2029-2031)ATA>GTA	p.I677V	EPB41L4A_uc003kpp.1_Intron|EPB41L4A_uc003kpu.1_RNA	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	677						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GAAGCTTGTATAGTTTTTATT	0.438													C	111500719	T	C	111500719	3	2	27	1	0	0	0	0	1	0	0	0	5155	1406	49	3	35	3	EPB41L4A	5	111500719	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	770287	111500719	69414541	2763	26714											
EPB41L4A	64097	broad.mit.edu	37	chr5	111600650	111600650	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcttccttctgatcaggaAcaaaccggtactcagataca	7	11	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:111600650A>G	uc003kpv.1	-	6	771	c.497T>C	c.(496-498)GTT>GCT	p.V166A	EPB41L4A_uc003kpw.1_Missense_Mutation_p.V166A	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	166	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CTGATCAGGAACAAACCGGTA	0.353													G	111600650	A	G	111600650	3	3	27	1	0	0	0	0	1	0	0	0	5155	43	2	3	1635	3	EPB41L4A	5	111600650	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	99931	111600650	69314610	2764	26715											
EPB41L4A	64097	broad.mit.edu	37	chr5	111600664	111600664	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaacaaaccggtactcAgatacatatcctgcagtatg	8	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:111600664A>C	uc003kpv.1	-	6	757	c.483T>G	c.(481-483)TCT>TCG	p.S161S	EPB41L4A_uc003kpw.1_Silent_p.S161S	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	161	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		ACCGGTACTCAGATACATATC	0.343													C	111600664	A	C	111600664	2	2	27	1	0	0	0	0	0	0	0	1	5155	175	7	5		5	EPB41L4A	5	111600664	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	14	111600664	69314596	2765	26716											
APC	324	broad.mit.edu	37	chr5	112178940	112178940	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggaacctggaaacgtgAgcacagcaaacattcatcat	9	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:112178940A>T	uc010jby.2	+	16	8029	c.7649A>T	c.(7648-7650)GAG>GTG	p.E2550V	APC_uc011cvt.1_Missense_Mutation_p.E2532V|APC_uc003kpz.3_Missense_Mutation_p.E2550V|APC_uc003kpy.3_Missense_Mutation_p.E2550V|APC_uc010jbz.2_Missense_Mutation_p.E2267V|APC_uc010jca.2_Missense_Mutation_p.E1850V	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2550	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGGAAACGTGAGCACAGCAAA	0.423		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			T	112178940	A	T	112178940	3	4	27	1	0	0	0	0	1	0	0	0	763	304	11	5	7707	5	APC	5	112178940	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	578276	112178940	68736320	2766	26717											
SRP19	6728	broad.mit.edu	37	chr5	112200164	112200164	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgttcaggctgttgaaaAtcctacagctacagagattc	8	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:112200164A>G	uc003kqc.2	+	3	209	c.128A>G	c.(127-129)AAT>AGT	p.N43S	SRP19_uc003kqb.1_Missense_Mutation_p.N43S|SRP19_uc011cvu.1_5'UTR|SRP19_uc011cvv.1_5'UTR	NM_003135	NP_003126	P09132	SRP19_HUMAN	signal recognition particle 19kDa	43					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		GCTGTTGAAAATCCTACAGCT	0.338													G	112200164	A	G	112200164	3	3	27	1	0	0	0	0	1	0	0	0	15153	101	4	3	138	3	SRP19	5	112200164	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	21224	112200164	68715096	2767	26718											
MCC	4163	broad.mit.edu	37	chr5	112406914	112406914	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaggtcattttgggatTtgaggtgctcaatccggcta	13	7	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:112406914T>C	uc003kqj.3	-	10	1762	c.1232A>G	c.(1231-1233)AAA>AGA	p.K411R	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.K601R|MCC_uc011cwb.1_Missense_Mutation_p.K411R|MCC_uc010jcd.1_Missense_Mutation_p.K373R	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	411					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ATTTTGGGATTTGAGGTGCTC	0.428													C	112406914	T	C	112406914	3	2	27	1	0	0	0	0	1	0	0	0	9373	1841	64	3	1289	3	MCC	5	112406914	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	206750	112406914	68508346	2768	26719											
KCNN2	3781	broad.mit.edu	37	chr5	113822749	113822749	+	Splice_Site	DEL	A	A	-													tgtttgttctcttaacaggtAaaaaatgcagctgccaatgt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:113822748_113822748TA>T	uc003kqo.3	+	6	1712	c.1255_splice	c.e6-1	p.V419_splice	KCNN2_uc003kqp.3_Splice_Site_p.V71_splice|KCNN2_uc010jcg.3_Splice_Site|AK097686_uc003kqr.1_Intron	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.	419	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TCTTAACAGGTAAAAAATGCA	0.373													-	113822749	A	-	113822749	8	5	27	1	0	1	0	1	0	0	1	0	8079	349	13	0	1279	0	KCNN2	5	113822749	Splice_Site	DEL	A	TCGA-BR-6452-01A-12D-1800-08	1415835	113822749	67092511	2769	26720											
TRIM36	55521	broad.mit.edu	37	chr5	114462533	114462533	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcctcacttccactgtcAtgcccactgtcttgctcata	5	16	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:114462533A>G	uc003kqs.2	-	10	2363	c.1854T>C	c.(1852-1854)CAT>CAC	p.H618H	TRIM36_uc011cwc.1_Silent_p.H606H|TRIM36_uc003kqt.2_Silent_p.H463H	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	tripartite motif-containing 36 isoform 1	618	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			ovary(4)|lung(2)|breast(2)	8		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TTCCACTGTCATGCCCACTGT	0.348													G	114462533	A	G	114462533	2	3	27	1	0	0	0	0	0	0	0	1	16507	214	8	3		3	TRIM36	5	114462533	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	639784	114462533	66452727	2770	26721											
PGGT1B	5229	broad.mit.edu	37	chr5	114548274	114548274	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatcccaaagtatgcatgcAaagcatctgaaaagaaggca	9	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:114548274A>G	uc003kqw.3	-	9	980	c.959T>C	c.(958-960)TTG>TCG	p.L320S	PGGT1B_uc003kqx.3_Missense_Mutation_p.L197S|PGGT1B_uc010jch.2_Missense_Mutation_p.L243S	NM_005023	NP_005014	P53609	PGTB1_HUMAN	geranylgeranyltransferase type 1 beta	320	PFTB 4.				protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity				0		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	GTATGCATGCAAAGCATCTGA	0.398													G	114548274	A	G	114548274	3	3	27	1	0	0	0	0	1	0	0	0	11789	131	5	3	178	3	PGGT1B	5	114548274	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	85741	114548274	66366986	2771	26722											
AQPEP	206338	broad.mit.edu	37	chr5	115298718	115298718	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggccgcgtgaacatcacggTgcgctgcacggtggccacct	14	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:115298718T>A	uc003kro.2	+	1	568	c.404T>A	c.(403-405)GTG>GAG	p.V135E	AQPEP_uc003krp.2_RNA|uc003krn.1_5'UTR	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	135	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						AACATCACGGTGCGCTGCACG	0.682													A	115298718	T	A	115298718	3	1	27	1	0	0	0	0	1	0	0	0	834	1696	59	5	406	5	AQPEP	5	115298718	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	750444	115298718	65616542	2772	26723											
SEMA6A	57556	broad.mit.edu	37	chr5	115782800	115782800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggttctccacaaggttcaCcccatggttgggactcttgc	10	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:115782800C>T	uc010jck.2	-	19	3311	c.2602G>A	c.(2602-2604)GTG>ATG	p.V868M	SEMA6A_uc003krx.3_Missense_Mutation_p.V885M|SEMA6A_uc011cwe.1_Missense_Mutation_p.V247M|SEMA6A_uc003krv.3_Missense_Mutation_p.V295M|SEMA6A_uc003krw.3_Missense_Mutation_p.V345M|SEMA6A_uc010jcj.2_Missense_Mutation_p.V412M	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	868	Cytoplasmic (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ACAAGGTTCACCCCATGGTTG	0.617													T	115782800	C	T	115782800	3	4	27	1	0	0	0	0	1	0	0	0	14039	507	18	4	494	4	SEMA6A	5	115782800	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	484082	115782800	65132460	2773	26724											
DMXL1	1657	broad.mit.edu	37	chr5	118513830	118513830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacacattcaagtaatgaGctatttcggattgtggccca	9	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:118513830G>A	uc003ksd.2	+	28	7207	c.7026G>A	c.(7024-7026)GAG>GAA	p.E2342E	DMXL1_uc010jcl.1_Silent_p.E2342E	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2342										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAAGTAATGAGCTATTTCGGA	0.458													A	118513830	G	A	118513830	2	1	27	1	0	0	0	0	0	0	0	1	4594	962	34	2		2	DMXL1	5	118513830	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2731030	118513830	62401430	2774	26725											
FAM170A	340069	broad.mit.edu	37	chr5	118970053	118970053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacagaatcagacagcctgCcaggctcacccaccgttgag	11	14	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:118970053C>T	uc003ksm.2	+	3	820	c.610C>T	c.(610-612)CCA>TCA	p.P204S	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.2_Missense_Mutation_p.P204S|FAM170A_uc003kso.2_Missense_Mutation_p.P157S	NM_182761	NP_877438	A1A519	F170A_HUMAN	family with sequence similarity 170, member A	204						intracellular	zinc ion binding			skin(1)	1						AGACAGCCTGCCAGGCTCACC	0.587													T	118970053	C	T	118970053	3	4	27	1	0	0	0	0	1	0	0	0	5489	739	26	2	620	2	FAM170A	5	118970053	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	456223	118970053	61945207	2775	26726											
PRR16	51334	broad.mit.edu	37	chr5	120022012	120022012	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atggagatatctgctgcataCccaacagtaacttggacaag	9	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:120022012C>G	uc003ksq.2	+	2	686	c.523C>G	c.(523-525)CCC>GCC	p.P175A	PRR16_uc003ksp.2_Missense_Mutation_p.P152A|PRR16_uc003ksr.2_Missense_Mutation_p.P105A	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	proline rich 16	175	Pro-rich.									pancreas(2)|ovary(1)	3		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CTGCTGCATACCCAACAGTAA	0.478													G	120022012	C	G	120022012	3	3	27	1	0	0	0	0	1	0	0	0	12589	507	18	5	460	5	PRR16	5	120022012	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1051959	120022012	60893248	2776	26727											
LOX	4015	broad.mit.edu	37	chr5	121409723	121409723	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catacctgtgtgtgtgcagtAcatgcaaatcgcctgtggta	11	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:121409723A>G	uc003ksu.2	-	4	1395	c.1020T>C	c.(1018-1020)TGT>TGC	p.C340C	LOX_uc010jcp.2_Silent_p.C43C|LOX_uc010jcq.2_Silent_p.C43C|LOX_uc011cwk.1_Silent_p.C110C|LOX_uc010jcr.2_Silent_p.C43C	NM_002317	NP_002308	P28300	LYOX_HUMAN	lysyl oxidase preproprotein	340	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			lung(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		TGTGTGCAGTACATGCAAATC	0.473													G	121409723	A	G	121409723	2	3	27	1	0	0	0	0	0	0	0	1	8898	389	14	3		3	LOX	5	121409723	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1387711	121409723	59505537	2777	26728											
SNCAIP	9627	broad.mit.edu	37	chr5	121767674	121767674	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taaaacctagaatggtcagtTggagtgcgtacgctggatgg	14	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:121767674T>A	uc003ksw.1	+	6	1399	c.1193T>A	c.(1192-1194)TTG>TAG	p.L398*	SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.2_Nonsense_Mutation_p.L398*|SNCAIP_uc003ksx.1_Nonsense_Mutation_p.L445*|SNCAIP_uc003ksy.1_Nonsense_Mutation_p.L32*|SNCAIP_uc003ksz.1_Nonsense_Mutation_p.L32*|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Nonsense_Mutation_p.L32*|SNCAIP_uc003kta.1_Nonsense_Mutation_p.L30*|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Nonsense_Mutation_p.L92*|SNCAIP_uc010jcx.1_Nonsense_Mutation_p.L338*	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	398	ANK 2.				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AATGGTCAGTTGGAGTGCGTA	0.398													A	121767674	T	A	121767674	4	1	27	1	0	0	0	0	0	1	0	0	14841	1821	63	5	1211	5	SNCAIP	5	121767674	Nonsense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	357951	121767674	59147586	2778	26729											
SNCAIP	9627	broad.mit.edu	37	chr5	121786643	121786643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggctgaccgaccaaggCcgcagcccattgtagaaagc	13	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:121786643C>T	uc003ksw.1	+	10	2307	c.2101C>T	c.(2101-2103)CCG>TCG	p.P701S	SNCAIP_uc011cwl.1_Missense_Mutation_p.P259S|SNCAIP_uc003ksx.1_Missense_Mutation_p.P748S|SNCAIP_uc003ksy.1_Missense_Mutation_p.P335S|SNCAIP_uc003ksz.1_Missense_Mutation_p.P335S|SNCAIP_uc010jcu.2_Missense_Mutation_p.P297S|SNCAIP_uc011cwm.1_Missense_Mutation_p.P335S|SNCAIP_uc003kta.1_Missense_Mutation_p.P333S|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.P395S|SNCAIP_uc010jcx.1_Missense_Mutation_p.P641S|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.P217S	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	701	ANK 6.				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCGACCAAGGCCGCAGCCCAT	0.547													T	121786643	C	T	121786643	3	4	27	1	0	0	0	0	1	0	0	0	14841	739	26	2	2135	2	SNCAIP	5	121786643	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	18969	121786643	59128617	2779	26730											
SNCAIP	9627	broad.mit.edu	37	chr5	121786917	121786917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgctgcccagaaagttgCcacaagtcccaagagtgccc	9	14	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:121786917C>T	uc003ksw.1	+	10	2581	c.2375C>T	c.(2374-2376)GCC>GTC	p.A792V	SNCAIP_uc011cwl.1_Missense_Mutation_p.A350V|SNCAIP_uc003ksx.1_Missense_Mutation_p.A839V|SNCAIP_uc003ksy.1_Missense_Mutation_p.A426V|SNCAIP_uc003ksz.1_Missense_Mutation_p.A426V|SNCAIP_uc010jcu.2_Missense_Mutation_p.A388V|SNCAIP_uc011cwm.1_Missense_Mutation_p.A426V|SNCAIP_uc003kta.1_Missense_Mutation_p.A424V|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.A486V|SNCAIP_uc010jcx.1_Missense_Mutation_p.A732V|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.A308V	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	792					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAGAAAGTTGCCACAAGTCCC	0.527													T	121786917	C	T	121786917	3	4	27	1	0	0	0	0	1	0	0	0	14841	739	26	2	2409	2	SNCAIP	5	121786917	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	274	121786917	59128343	2780	26731											
CSNK1G3	1456	broad.mit.edu	37	chr5	122926221	122926221	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaaaggatatatgtttgAttatgaatatgactggattg	10	2	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:122926221A>T	uc003ktm.2	+	9	1678	c.959A>T	c.(958-960)GAT>GTT	p.D320V	CSNK1G3_uc003ktl.2_Missense_Mutation_p.D320V|CSNK1G3_uc003ktn.2_Missense_Mutation_p.D320V|CSNK1G3_uc003kto.2_Missense_Mutation_p.D320V|CSNK1G3_uc011cwr.1_Missense_Mutation_p.D245V|CSNK1G3_uc011cws.1_Missense_Mutation_p.D208V|CSNK1G3_uc010jda.2_Missense_Mutation_p.D321V	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3 isoform 1	320					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TATATGTTTGATTATGAATAT	0.284													T	122926221	A	T	122926221	3	4	27	1	0	0	0	0	1	0	0	0	3956	333	12	5	989	5	CSNK1G3	5	122926221	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1139304	122926221	57989039	2781	26732											
ZNF608	57507	broad.mit.edu	37	chr5	123982525	123982525	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctggtgattggagagaagCtgcgatttacctgtctcctc	12	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:123982525C>A	uc003ktq.1	-	4	3675	c.3552G>T	c.(3550-3552)CAG>CAT	p.Q1184H	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.Q1184H|ZNF608_uc003ktt.1_Missense_Mutation_p.Q1184H|ZNF608_uc003ktp.1_5'Flank	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1184						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TGGAGAGAAGCTGCGATTTAC	0.468													A	123982525	C	A	123982525	3	1	27	1	0	0	0	0	1	0	0	0	18031	796	28	5	1010	5	ZNF608	5	123982525	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1056304	123982525	56932735	2782	26733											
ZNF608	57507	broad.mit.edu	37	chr5	123984764	123984764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagcagcagcagacctcGctctcttccctctgccccgg	11	18	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:123984764G>A	uc003ktq.1	-	4	1436	c.1313C>T	c.(1312-1314)GCG>GTG	p.A438V	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.A438V|ZNF608_uc003ktt.1_Missense_Mutation_p.A438V	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	438						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AGCAGACCTCGCTCTCTTCCC	0.592													A	123984764	G	A	123984764	3	1	27	1	0	0	0	0	1	0	0	0	18031	1087	38	1	3249	1	ZNF608	5	123984764	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2239	123984764	56930496	2783	26734											
ZNF608	57507	broad.mit.edu	37	chr5	124080438	124080438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacagaagcaaattttaggCcatcagctaaggctgcggta	11	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:124080438C>T	uc003ktq.1	-	1	368	c.245G>A	c.(244-246)GGC>GAC	p.G82D	ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Missense_Mutation_p.G82D|ZNF608_uc003ktt.1_Missense_Mutation_p.G82D	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	82						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AAATTTTAGGCCATCAGCTAA	0.498													T	124080438	C	T	124080438	3	4	27	1	0	0	0	0	1	0	0	0	18031	739	26	2	4329	2	ZNF608	5	124080438	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	95674	124080438	56834822	2784	26735											
ZNF608	57507	broad.mit.edu	37	chr5	124080611	124080611	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccccgatttcccaatcAtcgccactgtcataagtatc	4	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:124080611A>G	uc003ktq.1	-	1	195	c.72T>C	c.(70-72)GAT>GAC	p.D24D	ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Silent_p.D24D|ZNF608_uc003ktt.1_Silent_p.D24D	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	24						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTTCCCAATCATCGCCACTGT	0.388													G	124080611	A	G	124080611	2	3	27	1	0	0	0	0	0	0	0	1	18031	214	8	3		3	ZNF608	5	124080611	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	173	124080611	56834649	2785	26736											
GRAMD3	65983	broad.mit.edu	37	chr5	125805413	125805413	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctttagcaagtgataagaAcgactgtaaaacagaaagca	8	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:125805413A>G	uc003ktu.2	+	3	678	c.248A>G	c.(247-249)AAC>AGC	p.N83S	GRAMD3_uc011cwt.1_Missense_Mutation_p.N98S|GRAMD3_uc011cwv.1_Missense_Mutation_p.N91S|GRAMD3_uc011cww.1_Intron|GRAMD3_uc011cwx.1_Intron|GRAMD3_uc011cwy.1_5'UTR|GRAMD3_uc011cwz.1_Missense_Mutation_p.N67S|GRAMD3_uc011cwu.1_Missense_Mutation_p.N67S	NM_023927	NP_076416	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3 isoform 2	83										central_nervous_system(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		AGTGATAAGAACGACTGTAAA	0.318													G	125805413	A	G	125805413	3	3	27	1	0	0	0	0	1	0	0	0	6751	43	2	3	472	3	GRAMD3	5	125805413	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1724802	125805413	55109847	2786	26737											
MARCH3	115123	broad.mit.edu	37	chr5	126206470	126206470	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttgtacaatcgacagtggTacctaaatgacacctgggga	11	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:126206470T>C	uc003kuf.2	-	5	1072	c.617A>G	c.(616-618)TAC>TGC	p.Y206C		NM_178450	NP_848545	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3	206					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		TCGACAGTGGTACCTAAATGA	0.438													C	126206470	T	C	126206470	3	2	27	1	0	0	0	0	1	0	0	0	9302	1638	57	3	148	3	MARCH3	5	126206470	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	401057	126206470	54708790	2787	26738											
MARCH3	115123	broad.mit.edu	37	chr5	126250640	126250640	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctccactaacggcctgggTttgcgctcgactgcaaacct	9	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:126250640T>C	uc003kuf.2	-	3	830	c.375A>G	c.(373-375)AAA>AAG	p.K125K	MARCH3_uc011cxc.1_Silent_p.K125K	NM_178450	NP_848545	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3	125					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		ACGGCCTGGGTTTGCGCTCGA	0.517													C	126250640	T	C	126250640	2	2	27	1	0	0	0	0	0	0	0	1	9302	1722	60	3		3	MARCH3	5	126250640	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	44170	126250640	54664620	2788	26739											
MEGF10	84466	broad.mit.edu	37	chr5	126783362	126783362	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acgtcaacaacagggacaggAtgactgtcacgaaggtgaga	13	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:126783362A>T	uc003kuh.3	+	22	3204	c.2842A>T	c.(2842-2844)ATG>TTG	p.M948L	MEGF10_uc003kui.3_Missense_Mutation_p.M948L	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	948	Cytoplasmic (Potential).|Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CAGGGACAGGATGACTGTCAC	0.438													T	126783362	A	T	126783362	3	4	27	1	0	0	0	0	1	0	0	0	9460	333	12	5	2920	5	MEGF10	5	126783362	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	532722	126783362	54131898	2789	26740											
MEGF10	84466	broad.mit.edu	37	chr5	126792986	126792988	+	In_Frame_Del	DEL	CAA	CAA	-													gacagtggtggtagcagcagCaacagcagcagcagcagtga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:126792985_126792987GCAA>G	uc003kuh.4	+	25	3760_3762	c.3398_3400GCAA>G	c.(3397-3402)agcaac>aGac	p.1133_1134SN>R	MEGF10_uc003kui.4_In_Frame_Del_p.1133_1134SN>R	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	1133	Necessary for formation of large intracellular vacuoles.|Ser-rich.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GGTagcagcagcaacagcagcag	0.522													-	126792988	CAA	-	126792986	7	5	27	1	0	1	0	1	0	0	0	0	9460	709	25	0	3493	0	MEGF10	5	126792986	In_Frame_Del	DEL	CAA	TCGA-BR-6452-01A-12D-1800-08	9624	126792986	54122274	2790	26741											
SLC12A2	6558	broad.mit.edu	37	chr5	127520484	127520484	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgtttcatttcagacaTaccggcagatcaggttaaat	8	9	3	2	rs116065946	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:127520484T>C	uc003kus.2	+	26	3603	c.3439T>C	c.(3439-3441)TAC>CAC	p.Y1147H	SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.Y1131H	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	1147	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			ovary(3)	3		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATTTCAGACATACCGGCAGAT	0.308													C	127520484	T	C	127520484	3	2	27	1	0	0	0	0	1	0	0	0	14383	1406	49	3	3541	3	SLC12A2	5	127520484	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	727498	127520484	53394776	2791	26742											
FBN2	2201	broad.mit.edu	37	chr5	127645675	127645675	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcagagttctttacctacCcatgcagttgtggcctccat	7	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:127645675C>A	uc003kuu.2	-	40	5639	c.5200G>T	c.(5200-5202)GAC>TAC	p.D1734Y		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1734					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTTACCTACCCATGCAGTTG	0.453													A	127645675	C	A	127645675	3	1	27	1	0	0	0	0	1	0	0	0	5703	637	22	5	3642	5	FBN2	5	127645675	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	125191	127645675	53269585	2792	26743											
FBN2	2201	broad.mit.edu	37	chr5	127686696	127686696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaggtccccttcaggctGtctgaaaaggaacaggaaag	11	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:127686696G>A	uc003kuu.2	-	21	3115	c.2676C>T	c.(2674-2676)GAC>GAT	p.D892D	FBN2_uc003kuv.2_Silent_p.D859D	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	892					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCTTCAGGCTGTCTGAAAAGG	0.458													A	127686696	G	A	127686696	2	1	27	1	0	0	0	0	0	0	0	1	5703	1391	48	4		4	FBN2	5	127686696	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	41021	127686696	53228564	2793	26744											
FBN2	2201	broad.mit.edu	37	chr5	127704962	127704962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcggacttggtcactgcacCggggaaaggacgcacacaca	12	12	1	0	rs149733159		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:127704962C>T	uc003kuu.2	-	16	2600	c.2161G>A	c.(2161-2163)GGT>AGT	p.G721S	FBN2_uc003kuv.2_Missense_Mutation_p.G688S	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	721	TB 3.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTCACTGCACCGGGGAAAGGA	0.488													T	127704962	C	T	127704962	3	4	27	1	0	0	0	0	1	0	0	0	5703	652	23	1	6777	1	FBN2	5	127704962	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	18266	127704962	53210298	2794	26745											
SLC27A6	28965	broad.mit.edu	37	chr5	128320892	128320892	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcagtgtttgggggatgaAagattctgttccacaaggtg	13	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:128320892A>G	uc003kuy.2	+	3	944	c.548A>G	c.(547-549)AAA>AGA	p.K183R	SLC27A6_uc003kuz.2_Missense_Mutation_p.K183R	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	183					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGGGGGATGAAAGATTCTGTT	0.453													G	128320892	A	G	128320892	3	3	27	1	0	0	0	0	1	0	0	0	14530	14	1	3	554	3	SLC27A6	5	128320892	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	615930	128320892	52594368	2795	26746											
ADAMTS19	171019	broad.mit.edu	37	chr5	129001264	129001264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaaaagccggcacataGctatttaggtaacctgtgtt	12	7	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:129001264G>A	uc003kvb.1	+	16	2480	c.2480G>A	c.(2479-2481)AGC>AAC	p.S827N	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	827	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCGGCACATAGCTATTTAGGT	0.433													A	129001264	G	A	129001264	3	1	27	1	0	0	0	0	1	0	0	0	264	971	34	2	2542	2	ADAMTS19	5	129001264	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	680372	129001264	51913996	2796	26747											
CHSY3	337876	broad.mit.edu	37	chr5	129243849	129243849	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagactggcctggggaatatTgaagagcttggaaagctggg	16	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:129243849T>C	uc003kvd.2	+	2	882	c.882T>C	c.(880-882)ATT>ATC	p.I294I		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	294	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TGGGGAATATTGAAGAGCTTG	0.478													C	129243849	T	C	129243849	2	2	27	1	0	0	0	0	0	0	0	1	3413	1800	63	3		3	CHSY3	5	129243849	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	242585	129243849	51671411	2797	26748											
FNIP1	96459	broad.mit.edu	37	chr5	131042175	131042175	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgctggtagctgctggcAcaacttcgggtaagtgagga	15	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:131042175A>G	uc003kvs.1	-	9	985	c.843T>C	c.(841-843)TGT>TGC	p.C281C	RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Silent_p.C253C|FNIP1_uc010jdm.1_Silent_p.C236C|FNIP1_uc003kvu.2_Silent_p.C281C	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1 isoform 1	281					regulation of protein phosphorylation	cytoplasm	protein binding			pancreas(1)|skin(1)	2		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		AGCTGCTGGCACAACTTCGGG	0.448													G	131042175	A	G	131042175	2	3	27	1	0	0	0	0	0	0	0	1	5975	157	6	3		3	FNIP1	5	131042175	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1798326	131042175	49873085	2798	26749											
FNIP1	96459	broad.mit.edu	37	chr5	131055060	131055060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtagctcattgctactgaGccaaacatcatctctccaag	6	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:131055060G>A	uc003kvs.1	-	4	547	c.405C>T	c.(403-405)GGC>GGT	p.G135G	RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Silent_p.G135G|FNIP1_uc010jdm.1_Silent_p.G90G|FNIP1_uc003kvu.2_Silent_p.G135G	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1 isoform 1	135					regulation of protein phosphorylation	cytoplasm	protein binding			pancreas(1)|skin(1)	2		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTGCTACTGAGCCAAACATCA	0.353													A	131055060	G	A	131055060	2	1	27	1	0	0	0	0	0	0	0	1	5975	958	34	2		2	FNIP1	5	131055060	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	12885	131055060	49860200	2799	26750											
ACSL6	23305	broad.mit.edu	37	chr5	131323899	131323899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccttctgaggtttgtccaCaatcacggtgctgatgtccg	11	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:131323899C>T	uc010jdo.1	-	7	681	c.598G>A	c.(598-600)GTG>ATG	p.V200M	ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.V225M|ACSL6_uc003kvy.1_Missense_Mutation_p.V225M|ACSL6_uc003kwb.2_Missense_Mutation_p.V190M|ACSL6_uc003kvz.1_Missense_Mutation_p.V165M|ACSL6_uc003kwa.1_Missense_Mutation_p.V211M|ACSL6_uc010jdn.1_Missense_Mutation_p.V215M|ACSL6_uc010jdp.1_5'Flank	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	200	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTTTGTCCACAATCACGGTG	0.577													T	131323899	C	T	131323899	3	4	27	1	0	0	0	0	1	0	0	0	181	478	17	4	1637	4	ACSL6	5	131323899	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	268839	131323899	49591361	2800	26751											
RAD50	10111	broad.mit.edu	37	chr5	131892985	131892985	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaagcctttgtgggctccaGgtccctggtgagattagaaa	12	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:131892985G>T	uc003kxi.2	+	1	356	c.-31G>T	c.(-33--29)CAGGT>CATGT		RAD50_uc003kxg.1_Intron|RAD50_uc003kxh.2_Translation_Start_Site	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1						DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGGGCTCCAGGTCCCTGGTG	0.562								Homologous_recombination					T	131892985	G	T	131892985	1	4	27	1	0	0	0	0	0	0	0	0	12984	1015	35	5		5	RAD50	5	131892985	Translation_Start_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	569086	131892985	49022275	2801	26752											
RAD50	10111	broad.mit.edu	37	chr5	131976465	131976465	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaacaaatcttgaccgagaAaacattgaatctcttgcaca	5	10	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:131976465A>G	uc003kxi.2	+	24	4107	c.3720A>G	c.(3718-3720)GAA>GAG	p.E1240E	RAD50_uc003kxh.2_Silent_p.E1101E	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	1240					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGACCGAGAAAACATTGAAT	0.458								Homologous_recombination					G	131976465	A	G	131976465	2	3	27	1	0	0	0	0	0	0	0	1	12984	11	1	3		3	RAD50	5	131976465	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	83480	131976465	48938795	2802	26753											
SHROOM1	134549	broad.mit.edu	37	chr5	132159772	132159773	+	Frame_Shift_Ins	INS	-	-	C													tggaaccaggctggccagtgINScccctggctagggcagtatt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:132159772_132159773insC	uc003kxx.2	-	7	2385_2386	c.1580_1581insG	c.(1579-1581)GGCfs	p.G527fs	SHROOM1_uc003kxy.1_Frame_Shift_Ins_p.G527fs	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	shroom family member 1	527					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			pancreas(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTGGCCAGTGCCCCTGGCTAG	0.579													C	132159773	-	C	132159772	7	5	27	1	0	1	1	0	0	0	0	0	14293	1306	46	0	993	0	SHROOM1	5	132159772	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	183307	132159772	48755488	2803	26754	91	2									
SHROOM1	134549	broad.mit.edu	37	chr5	132159773	132159774	+	Frame_Shift_Ins	INS	-	-	C													ggaaccaggctggccagtgcINSccctggctagggcagtattg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:132159772_132159773G>GC	uc003kxx.3	-	6	2385_2386	c.1580_1581C>GC	c.(1579-1581)ggcfs	p.G527fs	SHROOM1_uc003kxy.2_Frame_Shift_Ins_p.G527fs	NM_001172700	NP_001166171	Q2M3G4	SHRM1_HUMAN	Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.	527					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTGGCCAGTGCCCCTGGCTAG	0.579													C	132159774	-	C	132159773	7	5	27	1	0	1	1	0	0	0	0	0	14293	739	26	0	994	0	SHROOM1	5	132159773	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	1	132159773	48755487	2804	26755	91	2									
AFF4	27125	broad.mit.edu	37	chr5	132232641	132232641	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggttgttttttgcctacagTtcttctctgtgttgtgctgt	11	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:132232641T>C	uc003kyd.2	-	11	2089	c.1681A>G	c.(1681-1683)ACT>GCT	p.T561A	AFF4_uc011cxk.1_Missense_Mutation_p.T239A|AFF4_uc003kye.1_Missense_Mutation_p.T561A	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	561					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGCCTACAGTTCTTCTCTGT	0.507													C	132232641	T	C	132232641	3	2	27	1	0	0	0	0	1	0	0	0	359	1725	60	3	1854	3	AFF4	5	132232641	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	72868	132232641	48682619	2805	26756											
PHF15	23338	broad.mit.edu	37	chr5	133909374	133909374	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgacaaggcgcgagagaAcgaaacacgccatctgcaaa	12	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:133909374A>G	uc003kzo.1	+	10	1653	c.1474A>G	c.(1474-1476)ACG>GCG	p.T492A	PHF15_uc011cxt.1_Missense_Mutation_p.T492A|PHF15_uc003kzk.2_Missense_Mutation_p.T508A|PHF15_uc003kzl.2_Missense_Mutation_p.T492A|PHF15_uc003kzm.2_Missense_Mutation_p.T492A|PHF15_uc003kzn.2_Intron|PHF15_uc003kzp.2_Missense_Mutation_p.T200A	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	492					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCGCGAGAGAACGAAACACGC	0.512													G	133909374	A	G	133909374	3	3	27	1	0	0	0	0	1	0	0	0	11826	43	2	3	1508	3	PHF15	5	133909374	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1676733	133909374	47005886	2806	26757											
SEC24A	10802	broad.mit.edu	37	chr5	133997109	133997109	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctgaagccaacctgcCaccacctttgaattggcaat	6	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:133997109C>A	uc003kzs.2	+	2	686	c.398C>A	c.(397-399)CCA>CAA	p.P133Q	SEC24A_uc011cxu.1_5'UTR	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	133	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCAACCTGCCACCACCTTTG	0.468													A	133997109	C	A	133997109	3	1	27	1	0	0	0	0	1	0	0	0	13994	594	21	5	404	5	SEC24A	5	133997109	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	87735	133997109	46918151	2807	26758											
DDX46	9879	broad.mit.edu	37	chr5	134130617	134130617	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actttccccagagctatggaGgctttggctcgcaggatcct	11	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:134130617G>T	uc003kzw.2	+	14	1872	c.1704G>T	c.(1702-1704)GAG>GAT	p.E568D	DDX46_uc003kzv.1_RNA	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	568	Helicase ATP-binding.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGCTATGGAGGCTTTGGCTC	0.468													T	134130617	G	T	134130617	3	4	27	1	0	0	0	0	1	0	0	0	4364	991	35	5	1758	5	DDX46	5	134130617	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	133508	134130617	46784643	2808	26759											
CATSPER3	347732	broad.mit.edu	37	chr5	134303734	134303734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcatttctagttcaccagTtgacactacatcggtgggat	9	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:134303734T>C	uc003lag.2	+	1	121	c.53T>C	c.(52-54)GTT>GCT	p.V18A	PCBD2_uc011cxw.1_3'UTR	NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	18	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGTTCACCAGTTGACACTACA	0.383													C	134303734	T	C	134303734	3	2	27	1	0	0	0	0	1	0	0	0	2689	1725	60	3	55	3	CATSPER3	5	134303734	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	173117	134303734	46611526	2809	26760											
PITX1	5307	broad.mit.edu	37	chr5	134364694	134364694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgatgttgttgaggccCgagttgggcatgccaggcac	15	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:134364694C>T	uc010jea.2	-	3	1113	c.720G>A	c.(718-720)TCG>TCA	p.S240S	PITX1_uc011cxy.1_Silent_p.S240S	NM_002653	NP_002644	P78337	PITX1_HUMAN	paired-like homeodomain transcription factor 1	240	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		TGTTGAGGCCCGAGTTGGGCA	0.657													T	134364694	C	T	134364694	2	4	27	1	0	0	0	0	0	0	0	1	11954	639	23	1		1	PITX1	5	134364694	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	60960	134364694	46550566	2810	26761											
H2AFY	9555	broad.mit.edu	37	chr5	134681658	134681658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtggctttcccacctcacCtccagctacttccaagggcc	8	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:134681658C>T	uc003lam.1	-	7	988	c.778G>A	c.(778-780)GCT>ACT	p.A260T	H2AFY_uc003lal.1_RNA|H2AFY_uc003lao.1_Missense_Mutation_p.A259T|H2AFY_uc003lan.1_Missense_Mutation_p.A257T|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Missense_Mutation_p.A88T|H2AFY_uc003las.1_Missense_Mutation_p.A260T|H2AFY_uc003lat.1_Missense_Mutation_p.A259T	NM_138610	NP_613258	O75367	H2AY_HUMAN	H2A histone family, member Y isoform 3	260	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCCACCTCACCTCCAGCTACT	0.507													T	134681658	C	T	134681658	3	4	27	1	0	0	0	0	1	0	0	0	6929	695	24	4	352	4	H2AFY	5	134681658	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	316964	134681658	46233602	2811	26762											
TIFAB	497189	broad.mit.edu	37	chr5	134785592	134785592	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgggcccagcgtgggatggTacaggctcactcgcaggacg	16	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:134785592T>C	uc003law.3	-	2	239	c.38A>G	c.(37-39)TAC>TGC	p.Y13C	C5orf20_uc003lav.2_5'Flank	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	TIFA-related protein TIFAB	13											0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGTGGGATGGTACAGGCTCAC	0.607													C	134785592	T	C	134785592	3	2	27	1	0	0	0	0	1	0	0	0	15892	1638	57	3	451	3	TIFAB	5	134785592	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	103934	134785592	46129668	2812	26763											
NEUROG1	4762	broad.mit.edu	37	chr5	134871139	134871139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcagcagcgcctcggagCggacccgcgtccggccgcgg	17	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:134871139C>T	uc003lax.2	-	1	501	c.242G>A	c.(241-243)CGC>CAC	p.R81H		NM_006161	NP_006152	Q92886	NGN1_HUMAN	neurogenin 1	81					positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGCCTCGGAGCGGACCCGCGT	0.647													T	134871139	C	T	134871139	3	4	27	1	0	0	0	0	1	0	0	0	10352	768	27	1	475	1	NEUROG1	5	134871139	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	85547	134871139	46044121	2813	26764											
LOC153328	153328	broad.mit.edu	37	chr5	135207269	135207269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcggggctataccgggggGccagtgccatgctgctgagg	19	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:135207269G>A	uc003laz.1	+	5	713	c.541G>A	c.(541-543)GCC>ACC	p.A181T	LOC153328_uc003lba.2_Intron			Q6ZT89	S2548_HUMAN	RecName: Full=Putative mitochondrial carrier protein FLJ44862;	181	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATACCGGGGGGCCAGTGCCAT	0.617													A	135207269	G	A	135207269	3	1	27	1	0	0	0	0	1	0	0	0	8871	1218	42	2		2	LOC153328	5	135207269	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	336130	135207269	45707991	2814	26765											
TRPC7	57113	broad.mit.edu	37	chr5	135692301	135692301	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtggaagagttaccttaaAttcagtctcaatgttggcta	9	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:135692301A>G	uc003lbn.1	-	1	775	c.772T>C	c.(772-774)TTT>CTT	p.F258L	TRPC7_uc010jef.1_Missense_Mutation_p.F250L|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.F250L|TRPC7_uc010jei.1_Missense_Mutation_p.F250L|TRPC7_uc010jej.1_5'UTR	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	259	Cytoplasmic (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTACCTTAAATTCAGTCTCA	0.537													G	135692301	A	G	135692301	3	3	27	1	0	0	0	0	1	0	0	0	16581	101	4	3	1857	3	TRPC7	5	135692301	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	485032	135692301	45222959	2815	26766											
NME5	8382	broad.mit.edu	37	chr5	137454523	137454523	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaccaaaggatctgctggtTtttgcttacaaagctctgtg	9	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:137454523T>C	uc003lce.2	-	5	617	c.539A>G	c.(538-540)AAA>AGA	p.K180R	BRD8_uc003lcc.1_Intron	NM_003551	NP_003542	P56597	NDK5_HUMAN	non-metastatic cells 5, protein expressed in	180					anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATCTGCTGGTTTTTGCTTACA	0.269													C	137454523	T	C	137454523	3	2	27	1	0	0	0	0	1	0	0	0	10494	1841	64	3	107	3	NME5	5	137454523	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1762222	137454523	43460737	2816	26767											
BRD8	10902	broad.mit.edu	37	chr5	137500695	137500695	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtccagtctctcttgcttgAccgtcatttctggtgcaggg	11	11	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:137500695A>G	uc003lcf.1	-	12	1494	c.1439T>C	c.(1438-1440)GTC>GCC	p.V480A	BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Missense_Mutation_p.V259A|BRD8_uc003lcg.2_Missense_Mutation_p.V553A|BRD8_uc003lci.2_Missense_Mutation_p.V483A|BRD8_uc003lch.2_Missense_Mutation_p.V374A|BRD8_uc011cym.1_Missense_Mutation_p.V464A|BRD8_uc010jer.1_Missense_Mutation_p.V449A|BRD8_uc011cyn.1_Missense_Mutation_p.V439A	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	480					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTCTTGCTTGACCGTCATTTC	0.537													G	137500695	A	G	137500695	3	3	27	1	0	0	0	0	1	0	0	0	1506	275	10	3	2396	3	BRD8	5	137500695	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	46172	137500695	43414565	2817	26768											
GFRA3	2676	broad.mit.edu	37	chr5	137593531	137593531	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagctgcctgaggcagacGtggcgctggcagtggggccc	18	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:137593531G>A	uc003lcn.2	-	4	722	c.582C>T	c.(580-582)CAC>CAT	p.H194H	GFRA3_uc003lco.2_Silent_p.H163H	NM_001496	NP_001487	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3 preproprotein	194					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TGAGGCAGACGTGGCGCTGGC	0.662													A	137593531	G	A	137593531	2	1	27	1	0	0	0	0	0	0	0	1	6349	1136	40	1		1	GFRA3	5	137593531	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	92836	137593531	43321729	2818	26769											
CDC25C	995	broad.mit.edu	37	chr5	137665314	137665314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgctaagattcgaaagatCgaggcaacgttttggggttc	12	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:137665314C>T	uc003lcp.1	-	3	488	c.217G>A	c.(217-219)GAT>AAT	p.D73N	CDC25C_uc003lcq.1_Intron|CDC25C_uc003lcr.1_Missense_Mutation_p.D73N|CDC25C_uc011cyp.1_Missense_Mutation_p.D90N|CDC25C_uc003lcs.1_Missense_Mutation_p.D151N|CDC25C_uc010jet.1_Missense_Mutation_p.D73N|CDC25C_uc003lct.1_Missense_Mutation_p.D73N|CDC25C_uc003lcu.1_Intron	NM_001790	NP_001781	P30307	MPIP3_HUMAN	cell division cycle 25C isoform a	73					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			lung(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TTCGAAAGATCGAGGCAACGT	0.418													T	137665314	C	T	137665314	3	4	27	1	0	0	0	0	1	0	0	0	3064	884	31	1	1252	1	CDC25C	5	137665314	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	71783	137665314	43249946	2819	26770											
FAM53C	51307	broad.mit.edu	37	chr5	137677511	137677511	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttagcctttgcctgatcAtgcagacatctccaactgtg	7	12	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:137677511A>G	uc003lcv.2	+	3	562	c.92A>G	c.(91-93)CAT>CGT	p.H31R	FAM53C_uc003lcw.2_Missense_Mutation_p.H31R|FAM53C_uc011cyq.1_RNA|FAM53C_uc011cyr.1_Intron	NM_001135647	NP_001129119	Q9NYF3	FA53C_HUMAN	hypothetical protein LOC51307	31										ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TTGCCTGATCATGCAGACATC	0.463													G	137677511	A	G	137677511	3	3	27	1	0	0	0	0	1	0	0	0	5581	217	8	3	98	3	FAM53C	5	137677511	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	12197	137677511	43237749	2820	26771											
KDM3B	51780	broad.mit.edu	37	chr5	137721747	137721749	+	In_Frame_Del	DEL	AAG	AAG	-													cagtaaaatcttccaaaggaAagaagaagagagaaagcata							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:137721746_137721748AAAG>A	uc003lcy.1	+	6	1016_1018	c.816_818AAAG>A	c.(814-819)ggaaag>ggAg	p.K275del	KDM3B_uc010jew.1_5'UTR|KDM3B_uc011cys.1_5'Flank	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	275					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTTCCAAAGGAAAGAAGAAGAGA	0.414													-	137721749	AAG	-	137721747	7	5	27	1	0	1	0	1	0	0	0	0	8127	15	1	0	843	0	KDM3B	5	137721747	In_Frame_Del	DEL	AAG	TCGA-BR-6452-01A-12D-1800-08	44236	137721747	43193513	2821	26772											
KDM3B	51780	broad.mit.edu	37	chr5	137722193	137722193	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggcatagtggcttccgcAgctgtggtcactaccgccag	13	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:137722193A>G	uc003lcy.1	+	7	1463	c.1263A>G	c.(1261-1263)GCA>GCG	p.A421A	KDM3B_uc010jew.1_Silent_p.A77A|KDM3B_uc011cys.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	421					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						TGGCTTCCGCAGCTGTGGTCA	0.572													G	137722193	A	G	137722193	2	3	27	1	0	0	0	0	0	0	0	1	8127	175	7	3		3	KDM3B	5	137722193	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	446	137722193	43193067	2822	26773											
EGR1	1958	broad.mit.edu	37	chr5	137803132	137803132	+	Frame_Shift_Del	DEL	C	C	-													ccaaccggcccagcaagacgCccccccacgaacgcccttac					rs148475837		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:137803131_137803131GC>G	uc003ldb.1	+	1	1263	c.993_993GC>G	c.(991-993)acgfs	p.T331fs		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	331					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAGCAAGACGCCCCCCCACG	0.652													-	137803132	C	-	137803132	7	5	27	1	0	1	0	1	0	0	0	0	4971	739	26	0	1000	0	EGR1	5	137803132	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	80939	137803132	43112128	2823	26774											
ETF1	2107	broad.mit.edu	37	chr5	137844390	137844390	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caaatcctttcacaaactgaGacccttcttgtgatttatct	4	11	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:137844390G>A	uc003ldc.3	-	10	1364	c.1199C>T	c.(1198-1200)TCT>TTT	p.S400F	ETF1_uc011cyv.1_Missense_Mutation_p.S386F|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_Missense_Mutation_p.S367F	NM_004730	NP_004721	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	400					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CACAAACTGAGACCCTTCTTG	0.443													A	137844390	G	A	137844390	3	1	27	1	0	0	0	0	1	0	0	0	5268	942	33	4	122	4	ETF1	5	137844390	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	41258	137844390	43070870	2824	26775											
SIL1	64374	broad.mit.edu	37	chr5	138282992	138282992	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcaggaggacgcccagTgtctgcagcaccttctcacg	13	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:138282992T>C	uc003ldm.2	-	9	1217	c.1200A>G	c.(1198-1200)ACA>ACG	p.T400T	SIL1_uc003ldn.2_Silent_p.T399T|SIL1_uc003ldo.2_Silent_p.T400T|SIL1_uc003ldp.2_Silent_p.T400T	NM_022464	NP_071909	Q9H173	SIL1_HUMAN	SIL1 protein precursor	400					intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGACGCCCAGTGTCTGCAGCA	0.677									Marinesco-Sj_gren_syndrome				C	138282992	T	C	138282992	2	2	27	1	0	0	0	0	0	0	0	1	14321	1683	59	3		3	SIL1	5	138282992	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	438602	138282992	42632268	2825	26776											
MATR3	9782	broad.mit.edu	37	chr5	138658651	138658651	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcaaagaaaaagcttAaaaaggtaaagaaagataca	8	5	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:138658651A>T	uc003ldu.2	+	15	2570	c.2143A>T	c.(2143-2145)AAA>TAA	p.K715*	MATR3_uc010jfb.2_Nonsense_Mutation_p.K715*|MATR3_uc003ldt.2_Nonsense_Mutation_p.K377*|MATR3_uc003ldw.2_Nonsense_Mutation_p.K715*|MATR3_uc003ldx.2_Nonsense_Mutation_p.K715*|MATR3_uc010jfc.2_Nonsense_Mutation_p.K715*|MATR3_uc003ldy.2_Nonsense_Mutation_p.K392*|MATR3_uc011czb.1_Nonsense_Mutation_p.K427*|MATR3_uc003ldz.2_Nonsense_Mutation_p.K715*|MATR3_uc003lea.2_Nonsense_Mutation_p.K715*|MATR3_uc003leb.2_Nonsense_Mutation_p.K377*|MATR3_uc003lec.2_Nonsense_Mutation_p.K392*	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	715	Nuclear localization signal (Potential).					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAAAAAGCTTAAAAAGGTAAA	0.328													T	138658651	A	T	138658651	4	4	27	1	0	0	0	0	0	1	0	0	9337	363	13	5	2185	5	MATR3	5	138658651	Nonsense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	375659	138658651	42256609	2826	26777											
SLC23A1	9963	broad.mit.edu	37	chr5	138718265	138718265	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttaggctctgtgggtagCggggtcgaggggtccctggt	18	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:138718265C>T	uc003leh.2	-	2	163	c.66G>A	c.(64-66)CCG>CCA	p.P22P	SLC23A1_uc003leg.2_Silent_p.P22P	NM_005847	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (nucleobase	22					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CTGTGGGTAGCGGGGTCGAGG	0.567													T	138718265	C	T	138718265	2	4	27	1	0	0	0	0	0	0	0	1	14462	755	27	1		1	SLC23A1	5	138718265	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	59614	138718265	42196995	2827	26778											
MGC29506	51237	broad.mit.edu	37	chr5	138723491	138723491	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggctgacaccttctctgagCaggccccctggggtccccca	11	17	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:138723491C>A	uc003lei.2	-	4	593	c.533G>T	c.(532-534)TGC>TTC	p.C178F	MGC29506_uc010jfd.2_Missense_Mutation_p.C101F|MGC29506_uc010jfe.2_Missense_Mutation_p.C148F|MGC29506_uc003lej.2_Missense_Mutation_p.C119F	NM_016459	NP_057543	Q8WU39	PERP1_HUMAN	proapoptotic caspase adapter protein precursor	178				C->S: Does not affect activity.	apoptosis|positive regulation of immunoglobulin biosynthetic process	cytoplasm|endoplasmic reticulum chaperone complex	protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTTCTCTGAGCAGGCCCCCTG	0.582													A	138723491	C	A	138723491	3	1	27	1	0	0	0	0	1	0	0	0	9551	710	25	5	40	5	MGC29506	5	138723491	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5226	138723491	42191769	2828	26779											
DNAJC18	202052	broad.mit.edu	37	chr5	138764375	138764375	+	Splice_Site	DEL	A	A	-													tttctgcatttcttgatcctAaaaaaaatcacaagcatgta							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373													-	138764375	A	-	138764375	8	5	27	1	0	1	0	1	0	0	1	0	4637	377	13	0		0	DNAJC18	5	138764375	Splice_Site	DEL	A	TCGA-BR-6452-01A-12D-1800-08	40884	138764375	42150885	2829	26780											
NRG2	9542	broad.mit.edu	37	chr5	139231249	139231249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgatagggtggcgcggtgGccctgcgccgctcctccagg	17	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:139231249G>A	uc003lex.1	-	9	1937	c.1712C>T	c.(1711-1713)GCC>GTC	p.A571V	NRG2_uc003lev.1_Missense_Mutation_p.A579V|NRG2_uc003lew.1_Missense_Mutation_p.A573V|NRG2_uc003ley.1_Missense_Mutation_p.A565V	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	571	Cytoplasmic (Potential).				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|breast(2)|ovary(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGCGGTGGCCCTGCGCCG	0.627													A	139231249	G	A	139231249	3	1	27	1	0	0	0	0	1	0	0	0	10648	1203	42	2	848	2	NRG2	5	139231249	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	466874	139231249	41684011	2830	26781											
SLC4A9	83697	broad.mit.edu	37	chr5	139742516	139742516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaattccagtggtcagttcGtcgggccagcaaccttcatg	11	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:139742516G>A	uc003lfm.2	+	7	934	c.899G>A	c.(898-900)CGT>CAT	p.R300H	SLC4A9_uc003lfj.2_Missense_Mutation_p.R276H|SLC4A9_uc011czg.1_Missense_Mutation_p.R276H|SLC4A9_uc003lfl.2_Missense_Mutation_p.R276H|SLC4A9_uc003lfk.2_Missense_Mutation_p.R276H	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	300	Cytoplasmic (Potential).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTCAGTTCGTCGGGCCAGC	0.537											OREG0016461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	139742516	G	A	139742516	3	1	27	1	0	0	0	0	1	0	0	0	14660	1145	40	1	853	1	SLC4A9	5	139742516	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	511267	139742516	41172744	2831	26782											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139884538	139884538	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtgtatccttcagttgAcattgatgcacatgtgagta	9	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:139884538A>G	uc003lfs.1	+	16	3261	c.3137A>G	c.(3136-3138)GAC>GGC	p.D1046G	ANKHD1_uc003lfq.1_Missense_Mutation_p.D1065G|ANKHD1_uc003lfr.2_Missense_Mutation_p.D1046G|ANKHD1_uc003lft.1_Missense_Mutation_p.D257G|ANKHD1_uc003lfu.1_Missense_Mutation_p.D526G|ANKHD1_uc003lfv.1_Missense_Mutation_p.D123G	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1046						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCAGTTGACATTGATGCA	0.383													G	139884538	A	G	139884538	3	3	27	1	0	0	0	0	1	0	0	0	629	275	10	3	3199	3	ANKHD1-EIF4EBP3	5	139884538	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	142022	139884538	41030722	2832	26783											
APBB3	10307	broad.mit.edu	37	chr5	139941253	139941253	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatggcacttgagcatacaGctatctttgtcacttgccac	7	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:139941253G>A	uc003lgd.1	-	7	1040	c.681C>T	c.(679-681)AGC>AGT	p.S227S	APBB3_uc003lgb.1_5'UTR|APBB3_uc003lgc.1_5'UTR|APBB3_uc003lge.1_Silent_p.S220S|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_5'UTR|APBB3_uc010jfq.1_5'UTR	NM_133172	NP_573418	O95704	APBB3_HUMAN	amyloid beta precursor protein-binding, family	222	PID 1.					actin cytoskeleton|cytoplasm				ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCATACAGCTATCTTTGT	0.567													A	139941253	G	A	139941253	2	1	27	1	0	0	0	0	0	0	0	1	762	962	34	2		2	APBB3	5	139941253	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	56715	139941253	40974007	2833	26784											
SLC35A4	113829	broad.mit.edu	37	chr5	139947206	139947206	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgctgctgctgctgatggCtgcgggagcctgctatgcag	16	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:139947206C>A	uc003lgg.1	+	3	1180	c.452C>A	c.(451-453)GCT>GAT	p.A151D	SLC35A4_uc003lgh.1_Missense_Mutation_p.A151D	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	151	Leu-rich.|Helical; (Potential).					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTGATGGCTGCGGGAGCC	0.627													A	139947206	C	A	139947206	3	1	27	1	0	0	0	0	1	0	0	0	14573	797	28	5	454	5	SLC35A4	5	139947206	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5953	139947206	40968054	2834	26785											
IK	3550	broad.mit.edu	37	chr5	140038640	140038640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagagacagagaccgtgaccGagagcgagagcgagaacgag	16	8	0	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140038640G>A	uc003lgq.2	+	12	1177	c.1067G>A	c.(1066-1068)CGA>CAA	p.R356Q		NM_006083	NP_006074	Q13123	RED_HUMAN	RED protein	356	8.|17 X 2 AA tandem repeats of R-[ED].				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gaccgtgaccgagagcgagag	0.149													A	140038640	G	A	140038640	3	1	27	1	0	0	0	0	1	0	0	0	7608	1058	37	1	1113	1	IK	5	140038640	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	91434	140038640	40876620	2835	26786											
WDR55	54853	broad.mit.edu	37	chr5	140048054	140048054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttctagatgtggagcaggGccaactggaaagacgtgttt	14	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140048054G>A	uc003lgr.3	+	3	461	c.347G>A	c.(346-348)GGC>GAC	p.G116D	WDR55_uc011czl.1_5'Flank	NM_017706	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	116	WD 2.				rRNA processing	cytoplasm|nucleolus				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGCAGGGCCAACTGGAA	0.537													A	140048054	G	A	140048054	3	1	27	1	0	0	0	0	1	0	0	0	17304	1203	42	2	357	2	WDR55	5	140048054	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	9414	140048054	40867206	2836	26787											
PCDHA2	56146	broad.mit.edu	37	chr5	140176593	140176593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccaaggcctcgtcgcggGcgtgggtgggcgccgcgggc	19	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140176593G>A	uc003lhd.2	+	1	2150	c.2044G>A	c.(2044-2046)GCG>ACG	p.A682T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A682T|PCDHA2_uc011czy.1_Missense_Mutation_p.A682T	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	682	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGTCGCGGGCGTGGGTGGG	0.647													A	140176593	G	A	140176593	3	1	27	1	0	0	0	0	1	0	0	0	11524	1203	42	2	2046	2	PCDHA2	5	140176593	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	128539	140176593	40738667	2837	26788											
PCDHA2	56146	broad.mit.edu	37	chr5	140176640	140176640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctacgctggtggatgtcaaCgtgtacctgatcatcgccat	11	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140176640C>T	uc003lhd.2	+	1	2197	c.2091C>T	c.(2089-2091)AAC>AAT	p.N697N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.N697N|PCDHA2_uc011czy.1_Silent_p.N697N	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	697	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGATGTCAACGTGTACCTGA	0.657													T	140176640	C	T	140176640	2	4	27	1	0	0	0	0	0	0	0	1	11524	535	19	1		1	PCDHA2	5	140176640	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	47	140176640	40738620	2838	26789											
PCDHA3	56145	broad.mit.edu	37	chr5	140182255	140182255	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggagaacgccctggtgtcCtactcgctggtggaacggcg	15	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140182255C>A	uc003lhf.2	+	1	1473	c.1473C>A	c.(1471-1473)TCC>TCA	p.S491S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.S491S	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	491	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTGGTGTCCTACTCGCTGG	0.682													A	140182255	C	A	140182255	2	1	27	1	0	0	0	0	0	0	0	1	11525	668	24	5		5	PCDHA3	5	140182255	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5615	140182255	40733005	2839	26790											
PCDHAC2	56134	broad.mit.edu	37	chr5	140187395	140187395	+	Frame_Shift_Del	DEL	T	T	-													cagagaagaagctccggagaTttttttagtgctcacagcca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140187394_140187394AT>A	uc003lhi.2	+	0	723	c.622_622AT>A	c.(622-624)attfs	p.I208fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Frame_Shift_Del_p.I208fs|PCDHAC2_uc011daa.2_Frame_Shift_Del_p.I208fs	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	223	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCCGGAGATTTTTTTAGT	0.453													-	140187395	T	-	140187395	7	5	27	1	0	1	0	1	0	0	0	0	11533	1493	52	0		0	PCDHAC2	5	140187395	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	5140	140187395	40727865	2840	26791											
PCDHAC2	56134	broad.mit.edu	37	chr5	140188622	140188623	+	Frame_Shift_Del	DEL	GC	GC	-													gctgcagccggggactggtgGcgcgcgcatcccgttccgcg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140188621_140188622GGC>G	uc003lhi.2	+	0	1950_1951	c.1849_1850GGC>G	c.(1849-1851)ggcfs	p.G617fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Frame_Shift_Del_p.G617fs|PCDHAC2_uc011daa.2_Frame_Shift_Del_p.G617fs	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	629	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGACTGGTGGCGCGCGCATC	0.678													-	140188623	GC	-	140188622	7	5	27	1	0	1	0	1	0	0	0	0	11533	1203	42	0		0	PCDHAC2	5	140188622	Frame_Shift_Del	DEL	GC	TCGA-BR-6452-01A-12D-1800-08	1227	140188622	40726638	2841	26792											
PCDHA5	56143	broad.mit.edu	37	chr5	140202809	140202809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcacgggacgcggacgcGcaggagaacgccctggtgtc	16	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140202809G>A	uc003lhl.2	+	1	1449	c.1449G>A	c.(1447-1449)GCG>GCA	p.A483A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.A483A|PCDHA5_uc003lhj.1_Silent_p.A483A	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	483	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGACGCGCAGGAGAACG	0.667													A	140202809	G	A	140202809	2	1	27	1	0	0	0	0	0	0	0	1	11527	1074	38	1		1	PCDHA5	5	140202809	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	14187	140202809	40712451	2842	26793											
PCDHA5	56143	broad.mit.edu	37	chr5	140203209	140203209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagccagcgcctggcagtGcgcgcatcccgttccgcgtg	14	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140203209G>A	uc003lhl.2	+	1	1849	c.1849G>A	c.(1849-1851)GCG>ACG	p.A617T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.A617T|PCDHA5_uc003lhj.1_Missense_Mutation_p.A617T	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	617	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGGCAGTGCGCGCATCCC	0.652													A	140203209	G	A	140203209	3	1	27	1	0	0	0	0	1	0	0	0	11527	1319	46	2	1851	2	PCDHA5	5	140203209	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	400	140203209	40712051	2843	26794											
PCDHA6	56142	broad.mit.edu	37	chr5	140207924	140207924	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaatctgcagaatggcaTtttgtttgtgaattctcgga	11	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140207924T>C	uc003lho.2	+	1	275	c.248T>C	c.(247-249)ATT>ACT	p.I83T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.I83T|PCDHA6_uc011dab.1_Missense_Mutation_p.I83T	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	83	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAATGGCATTTTGTTTGTG	0.622													C	140207924	T	C	140207924	3	2	27	1	0	0	0	0	1	0	0	0	11528	1493	52	3	250	3	PCDHA6	5	140207924	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4715	140207924	40707336	2844	26795											
PCDHA6	56142	broad.mit.edu	37	chr5	140209242	140209242	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtgtacgcgctgcagccGctggaccacgaggagctaga	15	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140209242G>A	uc003lho.2	+	1	1593	c.1566G>A	c.(1564-1566)CCG>CCA	p.P522P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.P522P|PCDHA6_uc011dab.1_Silent_p.P522P	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	522	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCAGCCGCTGGACCACG	0.682													A	140209242	G	A	140209242	2	1	27	1	0	0	0	0	0	0	0	1	11528	1074	38	1		1	PCDHA6	5	140209242	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1318	140209242	40706018	2845	26796											
PCDHA7	56141	broad.mit.edu	37	chr5	140214222	140214222	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagaatggcattttgtTtgtgaattctcggatcgacc	10	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140214222T>C	uc003lhq.2	+	1	254	c.254T>C	c.(253-255)TTT>TCT	p.F85S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.F85S	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	85	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCATTTTGTTTGTGAATTCT	0.607													C	140214222	T	C	140214222	3	2	27	1	0	0	0	0	1	0	0	0	11529	1841	64	3	256	3	PCDHA7	5	140214222	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4980	140214222	40701038	2846	26797											
PCDHA8	56140	broad.mit.edu	37	chr5	140222879	140222879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggatcatggtgaacctgCgctgaccgccacggccacgg	14	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140222879C>T	uc003lhs.2	+	1	1973	c.1973C>T	c.(1972-1974)GCG>GTG	p.A658V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.A658V	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	658	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAACCTGCGCTGACCGCC	0.652													T	140222879	C	T	140222879	3	4	27	1	0	0	0	0	1	0	0	0	11530	768	27	1	1975	1	PCDHA8	5	140222879	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	8657	140222879	40692381	2847	26798											
PCDHA9	9752	broad.mit.edu	37	chr5	140230182	140230182	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtcaacgtgtacctgaTcatcgccatctgcgcggtgt	12	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140230182T>C	uc003lhu.2	+	1	2826	c.2102T>C	c.(2101-2103)ATC>ACC	p.I701T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.I701T	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	701	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTACCTGATCATCGCCATC	0.662													C	140230182	T	C	140230182	3	2	27	1	0	0	0	0	1	0	0	0	11531	1435	50	3	2104	3	PCDHA9	5	140230182	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	7303	140230182	40685078	2848	26799											
PCDHA11	56138	broad.mit.edu	37	chr5	140248964	140248964	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaattctcggatcgaccgCgaggagctgtgcgggcagag	17	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140248964C>T	uc003lia.2	+	1	1134	c.276C>T	c.(274-276)CGC>CGT	p.R92R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.R92R	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	92	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCGACCGCGAGGAGCTGT	0.577													T	140248964	C	T	140248964	2	4	27	1	0	0	0	0	0	0	0	1	11521	755	27	1		1	PCDHA11	5	140248964	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	18782	140248964	40666296	2849	26800											
PCDHA11	56138	broad.mit.edu	37	chr5	140249904	140249904	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaagaattactactcgTtggtgctggacagcgccctg	10	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140249904T>C	uc003lia.2	+	1	2074	c.1216T>C	c.(1216-1218)TTG>CTG	p.L406L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.L406L	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	406	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACTACTCGTTGGTGCTGGA	0.617													C	140249904	T	C	140249904	2	2	27	1	0	0	0	0	0	0	0	1	11521	1722	60	3		3	PCDHA11	5	140249904	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	940	140249904	40665356	2850	26801											
PCDHA11	56138	broad.mit.edu	37	chr5	140250499	140250499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggactcaggctacaacgCgtggctttcatatgaattgc	11	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140250499C>T	uc003lia.2	+	1	2669	c.1811C>T	c.(1810-1812)GCG>GTG	p.A604V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A604V	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	604	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTACAACGCGTGGCTTTCA	0.667													T	140250499	C	T	140250499	3	4	27	1	0	0	0	0	1	0	0	0	11521	768	27	1	1813	1	PCDHA11	5	140250499	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	595	140250499	40664761	2851	26802											
PCDHA11	56138	broad.mit.edu	37	chr5	140250882	140250882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccactgagggcgcgtgcGcgccggggaagcccacgctg	17	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140250882G>A	uc003lia.2	+	1	3052	c.2194G>A	c.(2194-2196)GCG>ACG	p.A732T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A732T	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	732	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGCGTGCGCGCCGGGGAA	0.677													A	140250882	G	A	140250882	3	1	27	1	0	0	0	0	1	0	0	0	11521	1087	38	1	2196	1	PCDHA11	5	140250882	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	383	140250882	40664378	2852	26803											
PCDHA12	56137	broad.mit.edu	37	chr5	140256548	140256548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctactcgctggtggagcgGcgggtgggcgagcacgcact	17	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140256548G>A	uc003lic.2	+	1	1618	c.1491G>A	c.(1489-1491)CGG>CGA	p.R497R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.R497R	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	497	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGAGCGGCGGGTGGGCG	0.672													A	140256548	G	A	140256548	2	1	27	1	0	0	0	0	0	0	0	1	11522	1190	42	2		2	PCDHA12	5	140256548	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5666	140256548	40658712	2853	26804											
PCDHAC2	56134	broad.mit.edu	37	chr5	140263182	140263183	+	Frame_Shift_Ins	INS	-	-	G													ccacggccagcgtgtcggtgINSggggtggccgacgtgaacga					rs145999956		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140263181_140263182T>TG	uc003lif.2	+	0	1328_1329	c.1328_1329T>TG	c.(1327-1329)gtgfs	p.V443fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Frame_Shift_Ins_p.V443fs|PCDHAC2_uc003lid.3_Frame_Shift_Ins_p.V443fs	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	457	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGTGTCGGTGGGGGTGGCCG	0.678													G	140263183	-	G	140263182	7	5	27	1	0	1	1	0	0	0	0	0	11533	1335	47	0		0	PCDHAC2	5	140263182	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	6634	140263182	40652078	2854	26805											
PCDHA13	56136	broad.mit.edu	37	chr5	140263955	140263955	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtcaatgtttacttgaTcattgccatctgcgcggtgt	11	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140263955T>C	uc003lif.2	+	1	2102	c.2102T>C	c.(2101-2103)ATC>ACC	p.I701T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.I701T|PCDHA13_uc003lid.2_Missense_Mutation_p.I701T	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	701	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTACTTGATCATTGCCATC	0.662													C	140263955	T	C	140263955	3	2	27	1	0	0	0	0	1	0	0	0	11523	1435	50	3	2104	3	PCDHA13	5	140263955	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	773	140263955	40651305	2855	26806											
PCDHB1	29930	broad.mit.edu	37	chr5	140431551	140431551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctggacgtgggccttaacGgtctccagaactacaccctg	10	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140431551G>A	uc003lik.1	+	1	573	c.496G>A	c.(496-498)GGT>AGT	p.G166S		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	166	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCCTTAACGGTCTCCAGAA	0.542													A	140431551	G	A	140431551	3	1	27	1	0	0	0	0	1	0	0	0	11534	1116	39	1	498	1	PCDHB1	5	140431551	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	167596	140431551	40483709	2856	26807											
PCDHB1	29930	broad.mit.edu	37	chr5	140433299	140433299	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaggacaaggcaatggatcCttatctcggccttgtccata	9	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140433299C>A	uc003lik.1	+	1	2321	c.2244C>A	c.(2242-2244)TCC>TCA	p.S748S		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	748	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAATGGATCCTTATCTCGGC	0.398													A	140433299	C	A	140433299	2	1	27	1	0	0	0	0	0	0	0	1	11534	668	24	5		5	PCDHB1	5	140433299	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1748	140433299	40481961	2857	26808											
PCDHB3	56132	broad.mit.edu	37	chr5	140481490	140481490	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagatccgagtacaacatTaccatcactatcactgacct	4	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140481490T>C	uc003lio.2	+	1	1257	c.1257T>C	c.(1255-1257)ATT>ATC	p.I419I	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	419	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTACAACATTACCATCACTA	0.512													C	140481490	T	C	140481490	2	2	27	1	0	0	0	0	0	0	0	1	11543	1742	61	3		3	PCDHB3	5	140481490	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	48191	140481490	40433770	2858	26809											
PCDHB4	56131	broad.mit.edu	37	chr5	140501585	140501585	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacctggactccaacatgaAgaagctagggagaattcatc	11	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140501585A>G	uc003lip.1	+	1	5	c.5A>G	c.(4-6)AAG>AGG	p.K2R		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	2					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)			TCCAACATGAAGAAGCTAGGG	0.458													G	140501585	A	G	140501585	3	3	27	1	0	0	0	0	1	0	0	0	11544	72	3	3	7	3	PCDHB4	5	140501585	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	20095	140501585	40413675	2859	26810											
PCDHB5	26167	broad.mit.edu	37	chr5	140515442	140515442	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggaaatgctcctaaaaatCccagagagcacccagccagg	9	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140515442C>T	uc003liq.2	+	1	643	c.426C>T	c.(424-426)ATC>ATT	p.I142I		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	142	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTAAAAATCCCAGAGAGCA	0.438													T	140515442	C	T	140515442	2	4	27	1	0	0	0	0	0	0	0	1	11545	845	30	4		4	PCDHB5	5	140515442	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	13857	140515442	40399818	2860	26811											
PCDHB5	26167	broad.mit.edu	37	chr5	140515648	140515648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcctgagctcagcttaaCactcactgcactggacggtg	12	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140515648C>T	uc003liq.2	+	1	849	c.632C>T	c.(631-633)ACA>ATA	p.T211I		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	211	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAGCTTAACACTCACTGCA	0.547													T	140515648	C	T	140515648	3	4	27	1	0	0	0	0	1	0	0	0	11545	478	17	4	634	4	PCDHB5	5	140515648	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	206	140515648	40399612	2861	26812											
PCDHB5	26167	broad.mit.edu	37	chr5	140516313	140516313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggacacccaggctgaaaaccGagcacaacataacggtcctg	10	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140516313G>A	uc003liq.2	+	1	1514	c.1297G>A	c.(1297-1299)GAG>AAG	p.E433K		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	433	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGAAAACCGAGCACAACAT	0.562													A	140516313	G	A	140516313	3	1	27	1	0	0	0	0	1	0	0	0	11545	1059	37	1	1299	1	PCDHB5	5	140516313	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	665	140516313	40398947	2862	26813											
PCDHB5	26167	broad.mit.edu	37	chr5	140516700	140516700	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaactcgcccttcgtgctgTatccgctgcagaacggctcg	10	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140516700T>C	uc003liq.2	+	1	1901	c.1684T>C	c.(1684-1686)TAT>CAT	p.Y562H		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	562	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCGTGCTGTATCCGCTGCA	0.726													C	140516700	T	C	140516700	3	2	27	1	0	0	0	0	1	0	0	0	11545	1638	57	3	1686	3	PCDHB5	5	140516700	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	387	140516700	40398560	2863	26814											
PCDHB6	56130	broad.mit.edu	37	chr5	140531928	140531928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcgttggcctcggtgtcgtCgctcttcctcttttcggtgc	13	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140531928C>T	uc003lir.2	+	1	2090	c.2090C>T	c.(2089-2091)TCG>TTG	p.S697L	PCDHB6_uc011dah.1_Missense_Mutation_p.S561L	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	697	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGTCGTCGCTCTTCCTC	0.682													T	140531928	C	T	140531928	3	4	27	1	0	0	0	0	1	0	0	0	11546	893	31	1	2092	1	PCDHB6	5	140531928	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	15228	140531928	40383332	2864	26815											
PCDHB7	56129	broad.mit.edu	37	chr5	140553330	140553330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagtcttcatcttaaagCgcaattggactatgaggcaa	10	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140553330C>T	uc003lit.2	+	1	1088	c.914C>T	c.(913-915)GCG>GTG	p.A305V		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	305	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCTTAAAGCGCAATTGGAC	0.413													T	140553330	C	T	140553330	3	4	27	1	0	0	0	0	1	0	0	0	11547	768	27	1	916	1	PCDHB7	5	140553330	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	21402	140553330	40361930	2865	26816											
PCDHB7	56129	broad.mit.edu	37	chr5	140554145	140554145	+	Frame_Shift_Del	DEL	C	C	-													cgccctgcaccgagccgttgCcccgggcggccgagccgggc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140554144_140554144GC>G	uc003lit.3	+	0	1902	c.1728_1728GC>G	c.(1726-1728)ttgfs	p.L576fs		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	576	Cadherin 6.		L -> V (in dbSNP:rs13174866).		calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L576V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGAGCCGTTGCCCCGGGCGG	0.706													-	140554145	C	-	140554145	7	5	27	1	0	1	0	1	0	0	0	0	11547	739	26	0	1731	0	PCDHB7	5	140554145	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	815	140554145	40361115	2866	26817											
PCDHB7	56129	broad.mit.edu	37	chr5	140554272	140554272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggctattcggcgtgtgggCgcacaatggcgaggtgcgta	18	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140554272C>T	uc003lit.2	+	1	2030	c.1856C>T	c.(1855-1857)GCG>GTG	p.A619V		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	619	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGTGTGGGCGCACAATGGC	0.687													T	140554272	C	T	140554272	3	4	27	1	0	0	0	0	1	0	0	0	11547	768	27	1	1858	1	PCDHB7	5	140554272	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	127	140554272	40360988	2867	26818											
PCDHB7	56129	broad.mit.edu	37	chr5	140554319	140554319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgctgagcgagcgcgacGcagccaagcagaggctggtg	18	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140554319G>A	uc003lit.2	+	1	2077	c.1903G>A	c.(1903-1905)GCA>ACA	p.A635T		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	635	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGCGCGACGCAGCCAAGCA	0.687													A	140554319	G	A	140554319	3	1	27	1	0	0	0	0	1	0	0	0	11547	1087	38	1	1905	1	PCDHB7	5	140554319	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	47	140554319	40360941	2868	26819											
PCDHB7	56129	broad.mit.edu	37	chr5	140554538	140554538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcggtgctcctgttcgtgGcggtgcggctgtgcaggagg	18	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140554538G>A	uc003lit.2	+	1	2296	c.2122G>A	c.(2122-2124)GCG>ACG	p.A708T	PCDHB8_uc011dai.1_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	708	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGTTCGTGGCGGTGCGGCT	0.697													A	140554538	G	A	140554538	3	1	27	1	0	0	0	0	1	0	0	0	11547	1203	42	2	2124	2	PCDHB7	5	140554538	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	219	140554538	40360722	2869	26820											
PCDHB8	56128	broad.mit.edu	37	chr5	140559044	140559044	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatcggcagcgtcagcgccAcagacagagactcgggcacc	12	15	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140559044A>G	uc011dai.1	+	1	1615	c.1429A>G	c.(1429-1431)ACA>GCA	p.T477A	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	477	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTCAGCGCCACAGACAGAGA	0.652													G	140559044	A	G	140559044	3	3	27	1	0	0	0	0	1	0	0	0	11548	159	6	3	1431	3	PCDHB8	5	140559044	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4506	140559044	40356216	2870	26821											
PCDHB8	56128	broad.mit.edu	37	chr5	140559515	140559515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccaggctgctgagcgagCgcgacgcggccaagcagagg	17	14	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140559515C>T	uc011dai.1	+	1	2086	c.1900C>T	c.(1900-1902)CGC>TGC	p.R634C	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	634	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGAGCGAGCGCGACGCGGC	0.692													T	140559515	C	T	140559515	3	4	27	1	0	0	0	0	1	0	0	0	11548	768	27	1	1902	1	PCDHB8	5	140559515	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	471	140559515	40355745	2871	26822											
PCDHB16	57717	broad.mit.edu	37	chr5	140564217	140564217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacctggtggtggcgttgGcctcggtgtcgtcgctcttc	14	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140564217G>A	uc003liv.2	+	1	3238	c.2083G>A	c.(2083-2085)GCC>ACC	p.A695T	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	695	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGCGTTGGCCTCGGTGTC	0.697													A	140564217	G	A	140564217	3	1	27	1	0	0	0	0	1	0	0	0	11541	1203	42	2	2085	2	PCDHB16	5	140564217	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4702	140564217	40351043	2872	26823											
PCDHB9	56127	broad.mit.edu	37	chr5	140568905	140568905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctcccagccctacctgCctctcccggaggcggccccg	10	21	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140568905C>T	uc003liw.1	+	3	2014	c.2014C>T	c.(2014-2016)CCT>TCT	p.P672S		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	672	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTACCTGCCTCTCCCGGA	0.687													T	140568905	C	T	140568905	3	4	27	1	0	0	0	0	1	0	0	0	11549	747	26	2	2015	2	PCDHB9	5	140568905	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4688	140568905	40346355	2873	26824											
PCDHB12	56124	broad.mit.edu	37	chr5	140589857	140589857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacttcctacgccctgttcGtccgcgagaacaacagcccc	7	17	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140589857G>A	uc003liz.2	+	1	1567	c.1378G>A	c.(1378-1380)GTC>ATC	p.V460I	PCDHB12_uc011dak.1_Missense_Mutation_p.V123I	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	460	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCCTGTTCGTCCGCGAGAA	0.622													A	140589857	G	A	140589857	3	1	27	1	0	0	0	0	1	0	0	0	11537	1145	40	1	1380	1	PCDHB12	5	140589857	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	20952	140589857	40325403	2874	26825											
PCDHB14	56122	broad.mit.edu	37	chr5	140603685	140603685	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatagagctttagattatgAacaggaagctgaactcagat	10	5	1	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140603685A>G	uc003ljb.2	+	1	608	c.608A>G	c.(607-609)GAA>GGA	p.E203G	PCDHB14_uc011dal.1_Missense_Mutation_p.E50G	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	203	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAGATTATGAACAGGAAGCT	0.438													G	140603685	A	G	140603685	3	3	27	1	0	0	0	0	1	0	0	0	11539	246	9	3	610	3	PCDHB14	5	140603685	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	13828	140603685	40311575	2875	26826											
PCDHB14	56122	broad.mit.edu	37	chr5	140605248	140605248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggcggcctcggtgggtcGctgctcggtgcccgagggtc	19	13	0	0	rs142658705		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140605248G>A	uc003ljb.2	+	1	2171	c.2171G>A	c.(2170-2172)CGC>CAC	p.R724H	PCDHB14_uc011dal.1_Missense_Mutation_p.R571H	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	724	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGGGTCGCTGCTCGGTG	0.662													A	140605248	G	A	140605248	3	1	27	1	0	0	0	0	1	0	0	0	11539	1087	38	1	2173	1	PCDHB14	5	140605248	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1563	140605248	40310012	2876	26827											
PCDHB15	56121	broad.mit.edu	37	chr5	140626180	140626180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgttaacgataacttccCggaactaagtatttcatcac	7	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140626180C>T	uc003lje.2	+	1	1034	c.1034C>T	c.(1033-1035)CCG>CTG	p.P345L		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	345	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATAACTTCCCGGAACTAAGT	0.453													T	140626180	C	T	140626180	3	4	27	1	0	0	0	0	1	0	0	0	11540	652	23	1	1036	1	PCDHB15	5	140626180	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	20932	140626180	40289080	2877	26828											
SLC25A2	83884	broad.mit.edu	37	chr5	140683071	140683071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggggcagagagccagtGcagcaaatgcagaggcgaag	17	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140683071G>A	uc003ljf.2	-	1	542	c.362C>T	c.(361-363)GCA>GTA	p.A121V		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 member 2	121	Helical; Name=3; (Potential).|Solcar 2.				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			ovary(1)	1		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GAGAGCCAGTGCAGCAAATGC	0.522													A	140683071	G	A	140683071	3	1	27	1	0	0	0	0	1	0	0	0	14482	1319	46	2	547	2	SLC25A2	5	140683071	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	56891	140683071	40232189	2878	26829											
SLC25A2	83884	broad.mit.edu	37	chr5	140683297	140683297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaagcagtcggtgaggcCcttgtacaggtcagggaacg	16	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140683297C>T	uc003ljf.2	-	1	316	c.136G>A	c.(136-138)GGC>AGC	p.G46S		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 member 2	46	Solcar 1.				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			ovary(1)	1		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TCGGTGAGGCCCTTGTACAGG	0.607													T	140683297	C	T	140683297	3	4	27	1	0	0	0	0	1	0	0	0	14482	623	22	4	773	4	SLC25A2	5	140683297	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	226	140683297	40231963	2879	26830											
TAF7	6879	broad.mit.edu	37	chr5	140699608	140699608	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcatcatctttgcttttacTcatctttatttccttgtgat	4	9	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140699608T>A	uc003ljg.2	-	1	744	c.4A>T	c.(4-6)AGT>TGT	p.S2C		NM_005642	NP_005633	Q15545	TAF7_HUMAN	TATA box-binding protein-associated factor 2F	2					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCTTTTACTCATCTTTATT	0.408											OREG0016852	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	140699608	T	A	140699608	3	1	27	1	0	0	0	0	1	0	0	0	15529	1551	54	5	1049	5	TAF7	5	140699608	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	16311	140699608	40215652	2880	26831											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719387	140719387	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtatattttctagagaaAagccctggagaaacctcaga	10	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140719387A>G	uc003ljk.1	+	1	1034	c.849A>G	c.(847-849)AAA>AAG	p.K283K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.K283K	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	283	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTAGAGAAAAGCCCTGGAG	0.463													G	140719387	A	G	140719387	2	3	27	1	0	0	0	0	0	0	0	1	11554	11	1	3		3	PCDHGA2	5	140719387	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	19779	140719387	40195873	2881	26832											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720359	140720359	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgcctggctgtcttaccaCctgctcaaggccagcgagcc	10	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140720359C>T	uc003ljk.1	+	1	2006	c.1821C>T	c.(1819-1821)CAC>CAT	p.H607H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.H607H	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	607	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCTTACCACCTGCTCAAGG	0.692													T	140720359	C	T	140720359	2	4	27	1	0	0	0	0	0	0	0	1	11554	506	18	4		4	PCDHGA2	5	140720359	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	972	140720359	40194901	2882	26833											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720427	140720427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcgaggtgcgcacggcgcGagccctgctggacagagacg	19	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140720427G>A	uc003ljk.1	+	1	2074	c.1889G>A	c.(1888-1890)CGA>CAA	p.R630Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.R630Q	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	630	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCACGGCGCGAGCCCTGCTG	0.692													A	140720427	G	A	140720427	3	1	27	1	0	0	0	0	1	0	0	0	11554	1058	37	1	1891	1	PCDHGA2	5	140720427	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	68	140720427	40194833	2883	26834											
PCDHGA3	56112	broad.mit.edu	37	chr5	140724148	140724148	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacttctctctggctgtgaAtagcgtctctgagggggcca	12	11	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140724148A>C	uc003ljm.1	+	1	548	c.548A>C	c.(547-549)AAT>ACT	p.N183T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.N183T	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	183	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCTGTGAATAGCGTCTCT	0.502													C	140724148	A	C	140724148	3	2	27	1	0	0	0	0	1	0	0	0	11555	101	4	5	550	5	PCDHGA3	5	140724148	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3721	140724148	40191112	2884	26835											
PCDHGA3	56112	broad.mit.edu	37	chr5	140724815	140724815	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatcaatattaccgcttagtGacggccacatccctggaccg	9	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140724815G>A	uc003ljm.1	+	1	1215	c.1215G>A	c.(1213-1215)GTG>GTA	p.V405V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.V165V|PCDHGA3_uc011dap.1_Silent_p.V405V	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	405	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCTTAGTGACGGCCACAT	0.453													A	140724815	G	A	140724815	2	1	27	1	0	0	0	0	0	0	0	1	11555	1277	45	4		4	PCDHGA3	5	140724815	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	667	140724815	40190445	2885	26836											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725277	140725277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaccagaacgacaacgcGcccgagatcctgtaccccgc	10	17	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140725277G>A	uc003ljm.1	+	1	1677	c.1677G>A	c.(1675-1677)GCG>GCA	p.A559A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.A319A|PCDHGA3_uc011dap.1_Silent_p.A559A	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	559	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAACGCGCCCGAGATCC	0.642													A	140725277	G	A	140725277	2	1	27	1	0	0	0	0	0	0	0	1	11555	1074	38	1		1	PCDHGA3	5	140725277	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	462	140725277	40189983	2886	26837											
PCDHGB1	56104	broad.mit.edu	37	chr5	140730650	140730650	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggcattaatgcagagatcAcctatgccttcctcaattcc	7	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140730650A>G	uc003ljo.1	+	1	823	c.823A>G	c.(823-825)ACC>GCC	p.T275A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.T275A	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	275	Extracellular (Potential).|Cadherin 3.				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)			TGCAGAGATCACCTATGCCTT	0.498													G	140730650	A	G	140730650	3	3	27	1	0	0	0	0	1	0	0	0	11562	159	6	3	825	3	PCDHGB1	5	140730650	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	5373	140730650	40184610	2887	26838											
PCDHGA4	56111	broad.mit.edu	37	chr5	140735028	140735028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggcaccttggtcaccgcGggtaggatagacagggagga	17	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140735028G>A	uc003ljq.1	+	1	261	c.261G>A	c.(259-261)GCG>GCA	p.A87A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.A87A	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	87	Cadherin 1.|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)			TGGTCACCGCGGGTAGGATAG	0.597													A	140735028	G	A	140735028	2	1	27	1	0	0	0	0	0	0	0	1	11556	1103	39	1		1	PCDHGA4	5	140735028	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4378	140735028	40180232	2888	26839											
PCDHGA5	56110	broad.mit.edu	37	chr5	140745654	140745654	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgctccgcagaacctggctAcctggtgaccaaggtggtag	13	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140745654A>G	uc003lju.1	+	1	1757	c.1757A>G	c.(1756-1758)TAC>TGC	p.Y586C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.Y586C	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	586	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACCTGGCTACCTGGTGACC	0.627													G	140745654	A	G	140745654	3	3	27	1	0	0	0	0	1	0	0	0	11557	391	14	3	1759	3	PCDHGA5	5	140745654	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	10626	140745654	40169606	2889	26840											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751474	140751474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgggagctgtcgtcctacGtgtccgtgagcgcgcggagc	17	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140751474G>A	uc003ljw.1	+	1	1513	c.1513G>A	c.(1513-1515)GTG>ATG	p.V505M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.V505M|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	505	Extracellular (Potential).|Cadherin 5.				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)			GTCGTCCTACGTGTCCGTGAG	0.662													A	140751474	G	A	140751474	3	1	27	1	0	0	0	0	1	0	0	0	11564	1145	40	1	1515	1	PCDHGB3	5	140751474	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5820	140751474	40163786	2890	26841											
PCDHGA7	56108	broad.mit.edu	37	chr5	140764162	140764162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccgagatcctgtacccgGccctccccacagatggttct	9	18	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140764162G>A	uc003lka.1	+	1	1696	c.1696G>A	c.(1696-1698)GCC>ACC	p.A566T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.A566T	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	566	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)			CCTGTACCCGGCCCTCCCCAC	0.627													A	140764162	G	A	140764162	3	1	27	1	0	0	0	0	1	0	0	0	11559	1203	42	2	1698	2	PCDHGA7	5	140764162	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	12688	140764162	40151098	2891	26842											
PCDHGA7	56108	broad.mit.edu	37	chr5	140764596	140764596	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctagccttcgtcctcgtActgctggcgctcaggctgcg	11	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140764596A>G	uc003lka.1	+	1	2130	c.2130A>G	c.(2128-2130)GTA>GTG	p.V710V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGB4_uc003lkc.1_5'Flank|PCDHGA7_uc003ljz.1_Silent_p.V710V|PCDHGB4_uc011dav.1_5'Flank	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	710	Helical; (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)			TCGTCCTCGTACTGCTGGCGC	0.627													G	140764596	A	G	140764596	2	3	27	1	0	0	0	0	0	0	0	1	11559	378	14	3		3	PCDHGA7	5	140764596	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	434	140764596	40150664	2892	26843											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769090	140769090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcgcgaacgtgagcctgCgcgtgttagtggacgaccgc	15	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140769090C>T	uc003lkc.1	+	1	1639	c.1639C>T	c.(1639-1641)CGC>TGC	p.R547C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.R547C	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	547	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|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)			CGTGAGCCTGCGCGTGTTAGT	0.697													T	140769090	C	T	140769090	3	4	27	1	0	0	0	0	1	0	0	0	11565	768	27	1	1641	1	PCDHGB4	5	140769090	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4494	140769090	40146170	2893	26844											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773828	140773828	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacgaccccgacagccaggAgaatgcccaggtcacttact	9	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140773828A>G	uc003lkd.1	+	1	2346	c.1448A>G	c.(1447-1449)GAG>GGG	p.E483G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.E483G	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	483	Extracellular (Potential).|Cadherin 5.				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)			GACAGCCAGGAGAATGCCCAG	0.562													G	140773828	A	G	140773828	3	3	27	1	0	0	0	0	1	0	0	0	11560	304	11	3	1450	3	PCDHGA8	5	140773828	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4738	140773828	40141432	2894	26845											
PCDHGA8	9708	broad.mit.edu	37	chr5	140774055	140774055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggaccagaatgacaacGcgcccgagatcctgtacccc	10	15	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140774055G>A	uc003lkd.1	+	1	2573	c.1675G>A	c.(1675-1677)GCG>ACG	p.A559T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.A559T	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	559	Extracellular (Potential).|Cadherin 5.				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)			GAATGACAACGCGCCCGAGAT	0.657													A	140774055	G	A	140774055	3	1	27	1	0	0	0	0	1	0	0	0	11560	1087	38	1	1677	1	PCDHGA8	5	140774055	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	227	140774055	40141205	2895	26846											
PCDHGA9	56107	broad.mit.edu	37	chr5	140784150	140784150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaagcccaccacttagcaGcaatgtgtcattgagactgt	10	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140784150G>A	uc003lkh.1	+	1	1631	c.1631G>A	c.(1630-1632)AGC>AAC	p.S544N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.S544N	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	544	Extracellular (Potential).|Cadherin 5.				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)			CCACTTAGCAGCAATGTGTCA	0.498													A	140784150	G	A	140784150	3	1	27	1	0	0	0	0	1	0	0	0	11561	971	34	2	1633	2	PCDHGA9	5	140784150	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	10095	140784150	40131110	2896	26847											
PCDHGB7	56099	broad.mit.edu	37	chr5	140797634	140797634	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcgagctgcgagtgagcGcggagaagctgcacttcagc	15	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140797634G>T	uc003lkn.1	+	1	353	c.208G>T	c.(208-210)GCG>TCG	p.A70S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.A70S|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	70	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGTGAGCGCGGAGAAGCT	0.572													T	140797634	G	T	140797634	3	4	27	1	0	0	0	0	1	0	0	0	11568	1087	38	5	210	5	PCDHGB7	5	140797634	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	13484	140797634	40117626	2897	26848											
PCDHGB7	56099	broad.mit.edu	37	chr5	140799290	140799290	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcttcagcctggggctgCgaacaggcgaggtgcgcatg	17	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140799290C>T	uc003lkn.1	+	1	2009	c.1864C>T	c.(1864-1866)CGA>TGA	p.R622*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Nonsense_Mutation_p.R622*|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	622	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGGGCTGCGAACAGGCGA	0.657													T	140799290	C	T	140799290	4	4	27	1	0	0	0	0	0	1	0	0	11568	760	27	1	1866	1	PCDHGB7	5	140799290	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1656	140799290	40115970	2898	26849											
PCDHGA11	56105	broad.mit.edu	37	chr5	140800891	140800891	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttccgggccaggcagatcCgatattcggtgccagaagag	15	10	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140800891C>T	uc003lkq.1	+	1	355	c.97C>T	c.(97-99)CGA>TGA	p.R33*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Nonsense_Mutation_p.R33*|PCDHGA11_uc003lkp.1_Nonsense_Mutation_p.R33*	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	33	Extracellular (Potential).|Cadherin 1.				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)			CAGGCAGATCCGATATTCGGT	0.657													T	140800891	C	T	140800891	4	4	27	1	0	0	0	0	0	1	0	0	11552	644	23	1	99	1	PCDHGA11	5	140800891	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1601	140800891	40114369	2899	26850											
PCDHGA11	56105	broad.mit.edu	37	chr5	140802352	140802352	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgttctctatgccctacaaTccttcgactatgagcagttt	7	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140802352T>A	uc003lkq.1	+	1	1816	c.1558T>A	c.(1558-1560)TCC>ACC	p.S520T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.S520T|PCDHGA11_uc003lkp.1_Missense_Mutation_p.S520T	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	520	Extracellular (Potential).|Cadherin 5.				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)			TGCCCTACAATCCTTCGACTA	0.537													A	140802352	T	A	140802352	3	1	27	1	0	0	0	0	1	0	0	0	11552	1435	50	5	1560	5	PCDHGA11	5	140802352	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1461	140802352	40112908	2900	26851											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812139	140812139	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggccagaacgcctggctgTcctaccgtctgctcaaggcc	11	17	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140812139T>C	uc003lkt.1	+	1	1982	c.1813T>C	c.(1813-1815)TCC>CCC	p.S605P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.S605P	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	605	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTGGCTGTCCTACCGTCT	0.692													C	140812139	T	C	140812139	3	2	27	1	0	0	0	0	1	0	0	0	11553	1667	58	3	1815	3	PCDHGA12	5	140812139	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9787	140812139	40103121	2901	26852											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812199	140812199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtgggtctgcacacgggcGaggtgcgcacggcgcgagcc	19	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140812199G>A	uc003lkt.1	+	1	2042	c.1873G>A	c.(1873-1875)GAG>AAG	p.E625K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.E625K	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	625	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACACGGGCGAGGTGCGCAC	0.692													A	140812199	G	A	140812199	3	1	27	1	0	0	0	0	1	0	0	0	11553	1059	37	1	1875	1	PCDHGA12	5	140812199	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	60	140812199	40103061	2902	26853											
PCDHGC3	5098	broad.mit.edu	37	chr5	140857037	140857037	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcaagtgtccgacatcaatGacaaccctccacaatcttct	4	14	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140857037G>A	uc003lkv.1	+	1	1469	c.1354G>A	c.(1354-1356)GAC>AAC	p.D452N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.D452N|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	452	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACATCAATGACAACCCTCC	0.517													A	140857037	G	A	140857037	3	1	27	1	0	0	0	0	1	0	0	0	11569	1290	45	4	1356	4	PCDHGC3	5	140857037	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	44838	140857037	40058223	2903	26854											
PCDHGC4	56098	broad.mit.edu	37	chr5	140866146	140866146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgttcctgagaacaatcGcccaggggacctgctttgct	11	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:140866146G>A	uc003lky.1	+	1	1406	c.1406G>A	c.(1405-1407)CGC>CAC	p.R469H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.R469H|PCDHGC5_uc011dbc.1_5'Flank|PCDHGC5_uc003lla.1_5'Flank	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	469	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACAATCGCCCAGGGGAC	0.483													A	140866146	G	A	140866146	3	1	27	1	0	0	0	0	1	0	0	0	11570	1087	38	1	1408	1	PCDHGC4	5	140866146	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	9109	140866146	40049114	2904	26855											
PCDH1	5097	broad.mit.edu	37	chr5	141243331	141243332	+	Frame_Shift_Del	DEL	AA	AA	-													accacaccagccaccacaccAaagagaatgttgccacgctg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:141243330_141243331CAA>C	uc003llp.3	-	2	2682_2683	c.2565_2566TTG>G	c.(2563-2568)tttggtfs	p.F855fs	PCDH1_uc011dbf.2_Frame_Shift_Del_p.F833fs|PCDH1_uc003llq.3_Frame_Shift_Del_p.F855fs	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	855					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GCCACCACACCAAAGAGAATGT	0.604													-	141243332	AA	-	141243331	7	5	27	1	0	1	0	1	0	0	0	0	11506	127	5	0	1244	0	PCDH1	5	141243331	Frame_Shift_Del	DEL	AA	TCGA-BR-6452-01A-12D-1800-08	377185	141243331	39671929	2905	26856											
PCDH1	5097	broad.mit.edu	37	chr5	141243630	141243630	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataagggttgccacctgcaaTgctgtagatcagctcagcat	10	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:141243630T>C	uc003llq.2	-	3	2383	c.2266A>G	c.(2266-2268)ATT>GTT	p.I756V	PCDH1_uc003llp.2_Missense_Mutation_p.I756V|PCDH1_uc011dbf.1_Missense_Mutation_p.I734V	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	756	Extracellular (Potential).|Cadherin 7.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCACCTGCAATGCTGTAGATC	0.572													C	141243630	T	C	141243630	3	2	27	1	0	0	0	0	1	0	0	0	11506	1464	51	3	1543	3	PCDH1	5	141243630	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	299	141243630	39671630	2906	26857											
PCDH1	5097	broad.mit.edu	37	chr5	141244610	141244610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccaccacacaggtgacaGctgcattctctccctcatct	6	17	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:141244610G>A	uc003llq.2	-	3	1403	c.1286C>T	c.(1285-1287)GCT>GTT	p.A429V	PCDH1_uc003llp.2_Missense_Mutation_p.A429V|PCDH1_uc011dbf.1_Missense_Mutation_p.A407V	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	429	Extracellular (Potential).|Cadherin 4.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ACAGGTGACAGCTGCATTCTC	0.562													A	141244610	G	A	141244610	3	1	27	1	0	0	0	0	1	0	0	0	11506	971	34	2	2523	2	PCDH1	5	141244610	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	980	141244610	39670650	2907	26858											
PCDH1	5097	broad.mit.edu	37	chr5	141248319	141248319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggagtcccagcgctcacGgtccaggttgcccatcacaa	10	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:141248319G>A	uc003llq.2	-	2	835	c.718C>T	c.(718-720)CGT>TGT	p.R240C	PCDH1_uc003llp.2_Missense_Mutation_p.R240C|PCDH1_uc011dbf.1_Missense_Mutation_p.R218C	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	240	Extracellular (Potential).|Cadherin 2.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CAGCGCTCACGGTCCAGGTTG	0.642													A	141248319	G	A	141248319	3	1	27	1	0	0	0	0	1	0	0	0	11506	1116	39	1	3095	1	PCDH1	5	141248319	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3709	141248319	39666941	2908	26859											
PCDH12	51294	broad.mit.edu	37	chr5	141336597	141336597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccacctccccattggggcCttggtcagggtctgtggcgg	14	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:141336597C>T	uc003llx.2	-	1	2031	c.820G>A	c.(820-822)GGC>AGC	p.G274S		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	274	Extracellular (Potential).|Cadherin 3.				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATTGGGGCCTTGGTCAGGG	0.542													T	141336597	C	T	141336597	3	4	27	1	0	0	0	0	1	0	0	0	11510	681	24	4	2750	4	PCDH12	5	141336597	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	88278	141336597	39578663	2909	26860											
RNF14	9604	broad.mit.edu	37	chr5	141354437	141354437	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctttctgcctccacttgtgCtgaactttgaactgccacca	7	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:141354437C>A	uc003lly.2	+	3	262	c.223C>A	c.(223-225)CTG>ATG	p.L75M	RNF14_uc003llz.2_Missense_Mutation_p.L75M|RNF14_uc003lma.2_Missense_Mutation_p.L75M|RNF14_uc003lmb.2_Intron|RNF14_uc003lmc.2_Missense_Mutation_p.L75M|RNF14_uc011dbg.1_Missense_Mutation_p.L75M|RNF14_uc011dbh.1_Intron|RNF14_uc003lmd.2_Missense_Mutation_p.L75M	NM_183399	NP_899646	Q9UBS8	RNF14_HUMAN	ring finger protein 14 isoform 1	75	RWD.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding				0		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TCCACTTGTGCTGAACTTTGA	0.423													A	141354437	C	A	141354437	3	1	27	1	0	0	0	0	1	0	0	0	13443	796	28	5	229	5	RNF14	5	141354437	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	17840	141354437	39560823	2910	26861											
YIPF5	81555	broad.mit.edu	37	chr5	143545034	143545034	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcctcaaagttgtttccaTagaaaggctgaggtgaagct	10	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:143545034T>C	uc003lnk.3	-	3	686	c.245A>G	c.(244-246)TAT>TGT	p.Y82C	YIPF5_uc003lnl.3_Missense_Mutation_p.Y82C|YIPF5_uc010jgl.2_Missense_Mutation_p.Y28C	NM_001024947	NP_001020118	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	82	Cytoplasmic (Potential).|Interaction with Sec23.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane				ovary(1)|skin(1)	2		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GTTGTTTCCATAGAAAGGCTG	0.423													C	143545034	T	C	143545034	3	2	27	1	0	0	0	0	1	0	0	0	17478	1406	49	3	544	3	YIPF5	5	143545034	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2190597	143545034	37370226	2911	26862											
PLAC8L1	153770	broad.mit.edu	37	chr5	145477795	145477795	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggacaattgctgtgattgtCgtcctgccactggctccccg	11	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:145477795C>T	uc003lnv.2	-	2	252	c.180G>A	c.(178-180)ACG>ACA	p.T60T	PLAC8L1_uc011dbp.1_RNA	NM_001029869	NP_001025040	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	60											0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTGATTGTCGTCCTGCCAC	0.512													T	145477795	C	T	145477795	2	4	27	1	0	0	0	0	0	0	0	1	12016	871	31	1		1	PLAC8L1	5	145477795	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1932761	145477795	35437465	2912	26863											
LARS	51520	broad.mit.edu	37	chr5	145537173	145537173	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtagcagccaccaagaaaatAtttttacctttcaggccact	6	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:145537173A>T	uc003lnx.1	-	10	1096	c.858T>A	c.(856-858)AAT>AAA	p.N286K	LARS_uc011dbq.1_Missense_Mutation_p.N240K|LARS_uc011dbr.1_Missense_Mutation_p.N232K|LARS_uc011dbs.1_Missense_Mutation_p.N259K	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	286	Editing domain.				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CCAAGAAAATATTTTTACCTT	0.373													T	145537173	A	T	145537173	3	4	27	1	0	0	0	0	1	0	0	0	8634	446	16	5	2764	5	LARS	5	145537173	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	59378	145537173	35378087	2913	26864											
POU4F3	5459	broad.mit.edu	37	chr5	145719218	145719218	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaaccatccgttcaagccCgacgccacctaccataccat	5	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:145719218C>A	uc003loa.2	+	2	317	c.228C>A	c.(226-228)CCC>CCA	p.P76P		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	76					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGTTCAAGCCCGACGCCACCT	0.607													A	145719218	C	A	145719218	2	1	27	1	0	0	0	0	0	0	0	1	12280	639	23	5		5	POU4F3	5	145719218	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	182045	145719218	35196042	2914	26865											
TCERG1	10915	broad.mit.edu	37	chr5	145838891	145838891	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctacttcagttgcgcagAcagtatcaagtgagtaccac	9	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:145838891A>G	uc003lob.2	+	4	923	c.883A>G	c.(883-885)ACA>GCA	p.T295A	TCERG1_uc003loc.2_Missense_Mutation_p.T295A|TCERG1_uc011dbt.1_Missense_Mutation_p.T295A	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	295	Thr-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTTGCGCAGACAGTATCAAG	0.458													G	145838891	A	G	145838891	3	3	27	1	0	0	0	0	1	0	0	0	15682	275	10	3	897	3	TCERG1	5	145838891	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	119673	145838891	35076369	2915	26866											
TCERG1	10915	broad.mit.edu	37	chr5	145888807	145888807	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaccaaatttataacatatAggtgtgtgcaatgaaatgtt	8	4	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:145888807A>G	uc003lob.2	+	21	3134	c.3094A>G	c.(3094-3096)AGA>GGA	p.R1032G	TCERG1_uc003loc.2_Missense_Mutation_p.R1011G	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	1032	FF 6.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TATAACATATAGGTGTGTGCA	0.338													G	145888807	A	G	145888807	3	3	27	1	0	0	0	0	1	0	0	0	15682	434	15	3	3176	3	TCERG1	5	145888807	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	49916	145888807	35026453	2916	26867											
STK32A	202374	broad.mit.edu	37	chr5	146722576	146722576	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttactcctctagggatatgAagcctgacaatattttactt	6	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:146722576A>G	uc010jgn.1	+	6	722	c.442A>G	c.(442-444)AAG>GAG	p.K148E	STK32A_uc003lol.3_Missense_Mutation_p.K148E|STK32A_uc003lom.2_Missense_Mutation_p.K148E|STK32A_uc011dbw.1_Missense_Mutation_p.K148E	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A isoform 1	148	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGGATATGAAGCCTGACAA	0.383													G	146722576	A	G	146722576	3	3	27	1	0	0	0	0	1	0	0	0	15296	247	9	3	460	3	STK32A	5	146722576	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	833769	146722576	34192684	2917	26868											
DPYSL3	1809	broad.mit.edu	37	chr5	146780384	146780384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgggcactcccagatagCtgcagatccccgctggcaaa	11	14	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:146780384C>T	uc003lon.1	-	10	1091	c.981G>A	c.(979-981)CAG>CAA	p.Q327Q	DPYSL3_uc003loo.2_Silent_p.Q441Q	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	327					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCAGATAGCTGCAGATCCC	0.547													T	146780384	C	T	146780384	2	4	27	1	0	0	0	0	0	0	0	1	4748	796	28	2		2	DPYSL3	5	146780384	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	57808	146780384	34134876	2918	26869											
DPYSL3	1809	broad.mit.edu	37	chr5	146788299	146788299	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgtaacttacctcttctgGcctgctcagtacatggcctt	7	14	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:146788299G>T	uc003lon.1	-	7	792	c.682C>A	c.(682-684)CCA>ACA	p.P228T	DPYSL3_uc003loo.2_Missense_Mutation_p.P342T	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	228					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTCTTCTGGCCTGCTCAGT	0.443													T	146788299	G	T	146788299	3	4	27	1	0	0	0	0	1	0	0	0	4748	1203	42	5	1062	5	DPYSL3	5	146788299	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	7915	146788299	34126961	2919	26870											
DPYSL3	1809	broad.mit.edu	37	chr5	146795370	146795370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagcaactcttcccatcaGcccactctctccatttctca	2	19	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:146795370G>A	uc003lon.1	-	4	490	c.380C>T	c.(379-381)GCT>GTT	p.A127V	DPYSL3_uc003loo.2_Missense_Mutation_p.A241V	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	127					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCCATCAGCCCACTCTCT	0.527													A	146795370	G	A	146795370	3	1	27	1	0	0	0	0	1	0	0	0	4748	971	34	2	1376	2	DPYSL3	5	146795370	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	7071	146795370	34119890	2920	26871											
SPINK1	6690	broad.mit.edu	37	chr5	147207595	147207595	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtactcaccgattttcaaAacataacacgcattcattgg	5	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:147207595A>G	uc003los.2	-	3	304	c.184T>C	c.(184-186)TTT>CTT	p.F62L		NM_003122	NP_003113	P00995	ISK1_HUMAN	serine protease inhibitor, Kazal type 1	62	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATTTTCAAAACATAACACG	0.338									Hereditary_Pancreatitis				G	147207595	A	G	147207595	3	3	27	1	0	0	0	0	1	0	0	0	15056	14	1	3	63	3	SPINK1	5	147207595	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	412225	147207595	33707665	2921	26872											
SPINK14	408187	broad.mit.edu	37	chr5	147553843	147553843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgagctggtacaatggaaCggtcaacccctgccctggct	11	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:147553843C>T	uc003loz.1	+	3	158	c.158C>T	c.(157-159)ACG>ATG	p.T53M		NM_001001325	NP_001001325	Q6IE38	ISK14_HUMAN	Kazal type serine protease inhibitor 5-like 2	53	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity				0						TACAATGGAACGGTCAACCCC	0.418													T	147553843	C	T	147553843	3	4	27	1	0	0	0	0	1	0	0	0	15058	536	19	1	168	1	SPINK14	5	147553843	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	346248	147553843	33361417	2922	26873											
ADRB2	154	broad.mit.edu	37	chr5	148206582	148206582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccattgccaagttcgagcGtctgcagacggtcaccaact	10	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:148206582G>A	uc003lpr.1	+	1	427	c.188G>A	c.(187-189)CGT>CAT	p.R63H	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	63	Cytoplasmic.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	AAGTTCGAGCGTCTGCAGACG	0.567													A	148206582	G	A	148206582	3	1	27	1	0	0	0	0	1	0	0	0	341	1145	40	1	190	1	ADRB2	5	148206582	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	652739	148206582	32708678	2923	26874											
ADRB2	154	broad.mit.edu	37	chr5	148207139	148207139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccagaaccttagccaggtgGagcaggatgggcggacgggg	18	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:148207139G>A	uc003lpr.1	+	1	984	c.745G>A	c.(745-747)GAG>AAG	p.E249K	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	249	Cytoplasmic.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TAGCCAGGTGGAGCAGGATGG	0.547													A	148207139	G	A	148207139	3	1	27	1	0	0	0	0	1	0	0	0	341	1175	41	4	747	4	ADRB2	5	148207139	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	557	148207139	32708121	2924	26875											
SH3TC2	79628	broad.mit.edu	37	chr5	148420185	148420185	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaatctgataggagcctgTccaatccctcttcctggaaa	7	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:148420185T>C	uc003lpu.2	-	7	939	c.787A>G	c.(787-789)ACA>GCA	p.T263A	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.T256A|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.T148A	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	263							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGAGCCTGTCCAATCCCTC	0.423													C	148420185	T	C	148420185	3	2	27	1	0	0	0	0	1	0	0	0	14262	1667	58	3	3123	3	SH3TC2	5	148420185	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	213046	148420185	32495075	2925	26876											
ABLIM3	22885	broad.mit.edu	37	chr5	148626049	148626049	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtcttttgacagtgccCcgagccagaaggttctcgtc	10	12	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:148626049C>A	uc003lpy.2	+	17	1742	c.1491C>A	c.(1489-1491)CCC>CCA	p.P497P	ABLIM3_uc003lpz.1_Silent_p.P497P|ABLIM3_uc003lqa.1_Silent_p.P394P|ABLIM3_uc003lqb.2_Silent_p.P386P|ABLIM3_uc003lqc.1_Silent_p.P464P|ABLIM3_uc003lqd.1_Silent_p.P402P|ABLIM3_uc003lqf.2_Silent_p.P386P|ABLIM3_uc003lqe.1_Silent_p.P386P	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	497					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAGTGCCCCGAGCCAGAA	0.483													A	148626049	C	A	148626049	2	1	27	1	0	0	0	0	0	0	0	1	96	610	22	5		5	ABLIM3	5	148626049	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	205864	148626049	32289211	2926	26877											
AFAP1L1	134265	broad.mit.edu	37	chr5	148687000	148687000	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caatgagcagctcctatgagTcctacgatgaagaggaggag	13	8	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:148687000T>A	uc003lqh.2	+	7	702	c.571T>A	c.(571-573)TCC>ACC	p.S191T	AFAP1L1_uc003lqg.3_Missense_Mutation_p.S191T|AFAP1L1_uc010jgy.2_Missense_Mutation_p.S191T	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	191							protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTATGAGTCCTACGATGA	0.582													A	148687000	T	A	148687000	3	1	27	1	0	0	0	0	1	0	0	0	354	1667	58	5	597	5	AFAP1L1	5	148687000	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	60951	148687000	32228260	2927	26878											
IL17B	27190	broad.mit.edu	37	chr5	148754010	148754010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctgtgcggggcggtggCgggcagaggcggcggcgcac	23	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:148754010C>T	uc003lqo.2	-	3	515	c.465G>A	c.(463-465)CCG>CCA	p.P155P		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	interleukin 17B precursor	155					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCGGTGGCGGGCAGAGGC	0.667													T	148754010	C	T	148754010	2	4	27	1	0	0	0	0	0	0	0	1	7635	755	27	1		1	IL17B	5	148754010	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	67010	148754010	32161250	2928	26879											
IL17B	27190	broad.mit.edu	37	chr5	148756561	148756561	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgggctggcccagccccaGgaagatggaaatggtaagaa	14	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:148756561G>T	uc003lqo.2	-	2	99	c.49C>A	c.(49-51)CTG>ATG	p.L17M		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	interleukin 17B precursor	17					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGCCCCAGGAAGATGGAA	0.622													T	148756561	G	T	148756561	3	4	27	1	0	0	0	0	1	0	0	0	7635	991	35	5	501	5	IL17B	5	148756561	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2551	148756561	32158699	2929	26880											
ARHGEF37	389337	broad.mit.edu	37	chr5	149001301	149001301	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catgtctccccacagaagcaAcggctagaaggcctggtgtg	12	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:149001301A>T	uc003lra.1	+	9	1075	c.1011A>T	c.(1009-1011)CAA>CAT	p.Q337H		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	hypothetical protein LOC389337	337	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0						CACAGAAGCAACGGCTAGAAG	0.443													T	149001301	A	T	149001301	3	4	27	1	0	0	0	0	1	0	0	0	906	40	2	5	1041	5	ARHGEF37	5	149001301	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	244740	149001301	31913959	2930	26881											
PPARGC1B	133522	broad.mit.edu	37	chr5	149212461	149212461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgggcagggcagacccCggtgccccggtttcccagga	15	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:149212461C>T	uc003lrc.2	+	5	867	c.825C>T	c.(823-825)CCC>CCT	p.P275P	PPARGC1B_uc003lrb.1_Silent_p.P275P|PPARGC1B_uc003lrd.2_Silent_p.P236P|PPARGC1B_uc003lrf.2_Silent_p.P254P|PPARGC1B_uc003lre.1_Silent_p.P254P	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	275					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGGCAGACCCCGGTGCCCCGG	0.667													T	149212461	C	T	149212461	2	4	27	1	0	0	0	0	0	0	0	1	12301	639	23	1		1	PPARGC1B	5	149212461	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	211160	149212461	31702799	2931	26882											
SLC26A2	1836	broad.mit.edu	37	chr5	149361002	149361002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaggtggcttggaagaagGcagcaaagagaaagatcaaa	13	4	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:149361002G>A	uc003lrh.2	+	3	2114	c.1846G>A	c.(1846-1848)GCA>ACA	p.A616T		NM_000112	NP_000103	P50443	S26A2_HUMAN	solute carrier family 26 member 2	616	STAS.|Extracellular (Potential).					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTGGAAGAAGGCAGCAAAGAG	0.393													A	149361002	G	A	149361002	3	1	27	1	0	0	0	0	1	0	0	0	14517	1203	42	2	1852	2	SLC26A2	5	149361002	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	148541	149361002	31554258	2932	26883											
CSF1R	1436	broad.mit.edu	37	chr5	149456864	149456864	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccggaagaacatggaggtGgagtgcttgccctgcacgtt	14	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:149456864G>A	uc003lrl.2	-	5	1059	c.864C>T	c.(862-864)TCC>TCT	p.S288S	CSF1R_uc011dcd.1_Silent_p.S140S|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Silent_p.S288S|CSF1R_uc011dce.1_Silent_p.S288S|CSF1R_uc011dcf.1_Silent_p.S288S	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	288	Extracellular (Potential).|Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	ACATGGAGGTGGAGTGCTTGC	0.552													A	149456864	G	A	149456864	2	1	27	1	0	0	0	0	0	0	0	1	3932	1335	47	4		4	CSF1R	5	149456864	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	95862	149456864	31458396	2933	26884											
SLC6A7	6534	broad.mit.edu	37	chr5	149583563	149583563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttctcagggctcatctgcGtggccatgtacctgatgggg	14	10	3	1	rs139016893		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:149583563G>A	uc003lrr.2	+	10	1665	c.1294G>A	c.(1294-1296)GTG>ATG	p.V432M		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	432	Helical; Name=9; (Potential).					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GCTCATCTGCGTGGCCATGTA	0.577													A	149583563	G	A	149583563	3	1	27	1	0	0	0	0	1	0	0	0	14689	1145	40	1	1332	1	SLC6A7	5	149583563	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	126699	149583563	31331697	2934	26885											
ARSI	340075	broad.mit.edu	37	chr5	149677666	149677666	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcccaggtgatgttgcgcAcagcctcatccatgcaggtc	13	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:149677666A>C	uc003lrv.2	-	2	1410	c.821T>G	c.(820-822)GTG>GGG	p.V274G		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	274						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGTTGCGCACAGCCTCATC	0.602													C	149677666	A	C	149677666	3	2	27	1	0	0	0	0	1	0	0	0	994	159	6	5	892	5	ARSI	5	149677666	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	94103	149677666	31237594	2935	26886											
TCOF1	6949	broad.mit.edu	37	chr5	149755412	149755412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggacaactcggagagcagCgaggagtcatcggacagtgc	15	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:149755412C>T	uc003lry.2	+	12	1941	c.1833C>T	c.(1831-1833)AGC>AGT	p.S611S	TCOF1_uc003lrw.2_Silent_p.S611S|TCOF1_uc011dch.1_Silent_p.S611S|TCOF1_uc003lrz.2_Silent_p.S611S|TCOF1_uc003lrx.2_Silent_p.S534S|TCOF1_uc003lsa.2_Silent_p.S534S|TCOF1_uc011dci.1_Silent_p.S100S	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	611					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGAGAGCAGCGAGGAGTCAT	0.627													T	149755412	C	T	149755412	2	4	27	1	0	0	0	0	0	0	0	1	15705	767	27	1		1	TCOF1	5	149755412	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	77746	149755412	31159848	2936	26887											
SYNPO	11346	broad.mit.edu	37	chr5	150027979	150027979	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcacctgtcccaaaacCgagaggcccagcagtcctca	10	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:150027979C>A	uc003lsn.2	+	3	1248	c.874C>A	c.(874-876)CGA>AGA	p.R292R	SYNPO_uc003lso.3_Silent_p.R48R|SYNPO_uc003lsp.2_Silent_p.R48R	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	292					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCCCAAAACCGAGAGGCCCA	0.597													A	150027979	C	A	150027979	2	1	27	1	0	0	0	0	0	0	0	1	15453	644	23	5		5	SYNPO	5	150027979	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	272567	150027979	30887281	2937	26888											
DCTN4	51164	broad.mit.edu	37	chr5	150138455	150138455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccagcgaccgcagttcgCtacaatagcggcagaagtag	11	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:150138455C>T	uc003lsv.2	-	1	203	c.101G>A	c.(100-102)AGC>AAC	p.S34N	DCTN4_uc003lsu.2_5'Flank|DCTN4_uc010jhi.2_Missense_Mutation_p.S34N|DCTN4_uc010jhj.2_RNA|DCTN4_uc011dck.1_5'Flank	NM_016221	NP_057305	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62) isoform b	34						centrosome|nucleus	protein N-terminus binding			central_nervous_system(1)	1		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGCAGTTCGCTACAATAGCG	0.587													T	150138455	C	T	150138455	3	4	27	1	0	0	0	0	1	0	0	0	4309	797	28	2	1358	2	DCTN4	5	150138455	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	110476	150138455	30776805	2938	26889											
ZNF300	91975	broad.mit.edu	37	chr5	150275987	150275987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggcttttccacatgtaaCacatacacagcttttctctt	4	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:150275987C>T	uc003lsy.1	-	6	1081	c.814G>A	c.(814-816)GTT>ATT	p.V272I	IRGM_uc011dcl.1_Intron	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	zinc finger protein 300	272	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCACATGTAACACATACACAG	0.348													T	150275987	C	T	150275987	3	4	27	1	0	0	0	0	1	0	0	0	17828	478	17	4	1004	4	ZNF300	5	150275987	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	137532	150275987	30639273	2939	26890											
SLC36A2	153201	broad.mit.edu	37	chr5	150704980	150704980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatggctgggaagtggcGggcattcttcatcttgtttt	14	7	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:150704980G>A	uc003lty.2	-	8	1007	c.877C>T	c.(877-879)CGC>TGC	p.R293C	GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Missense_Mutation_p.R95C|SLC36A2_uc010jhv.2_Missense_Mutation_p.R293C	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	solute carrier family 36, member 2	293	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGAAGTGGCGGGCATTCTTC	0.383													A	150704980	G	A	150704980	3	1	27	1	0	0	0	0	1	0	0	0	14594	1116	39	1	586	1	SLC36A2	5	150704980	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	428993	150704980	30210280	2940	26891											
SLC36A1	206358	broad.mit.edu	37	chr5	150838460	150838460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaacctctcctccccggGctcctaccagcgctttggtc	7	19	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:150838460G>A	uc003luc.2	+	2	324	c.107G>A	c.(106-108)GGC>GAC	p.G36D	GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Missense_Mutation_p.G36D|SLC36A1_uc010jhw.1_Missense_Mutation_p.G36D	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 member 1	36	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			skin(1)	1		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	TCCTCCCCGGGCTCCTACCAG	0.567													A	150838460	G	A	150838460	3	1	27	1	0	0	0	0	1	0	0	0	14593	1203	42	2	109	2	SLC36A1	5	150838460	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	133480	150838460	30076800	2941	26892											
FAT2	2196	broad.mit.edu	37	chr5	150897202	150897202	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggagacggacgctgtTtcattggtgaatagaagaat	13	5	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:150897202T>C	uc003lue.3	-	19	11455	c.11442A>G	c.(11440-11442)GAA>GAG	p.E3814E	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Silent_p.E507E	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3814	Extracellular (Potential).|Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGACGCTGTTTCATTGGTGA	0.552													C	150897202	T	C	150897202	2	2	27	1	0	0	0	0	0	0	0	1	5690	1838	64	3		3	FAT2	5	150897202	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	58742	150897202	30018058	2942	26893											
FAT2	2196	broad.mit.edu	37	chr5	150901461	150901461	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctgccaggctataggTcagcgtgtcctgggggtctc	13	12	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:150901461T>C	uc003lue.3	-	18	10706	c.10693A>G	c.(10693-10695)ACC>GCC	p.T3565A	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.T258A	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3565	Cadherin 32.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGCTATAGGTCAGCGTGTCC	0.597													C	150901461	T	C	150901461	3	2	27	1	0	0	0	0	1	0	0	0	5690	1667	58	3	2380	3	FAT2	5	150901461	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4259	150901461	30013799	2943	26894											
FAT2	2196	broad.mit.edu	37	chr5	150922517	150922517	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtgccccgcactagactgTagatgactggatcttgagct	11	10	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:150922517T>C	uc003lue.3	-	9	8184	c.8171A>G	c.(8170-8172)TAC>TGC	p.Y2724C	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	2724	Cadherin 24.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTAGACTGTAGATGACTGG	0.498													C	150922517	T	C	150922517	3	2	27	1	0	0	0	0	1	0	0	0	5690	1638	57	3	4938	3	FAT2	5	150922517	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	21056	150922517	29992743	2944	26895											
FAT2	2196	broad.mit.edu	37	chr5	150945761	150945761	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcctccaatgtgattatcAggtcagtgacagagaagagc	10	9	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:150945761A>G	uc003lue.3	-	1	2745	c.2732T>C	c.(2731-2733)CTG>CCG	p.L911P	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.L911P	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	911	Extracellular (Potential).|Cadherin 7.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGATTATCAGGTCAGTGAC	0.562													G	150945761	A	G	150945761	3	3	27	1	0	0	0	0	1	0	0	0	5690	188	7	3	10409	3	FAT2	5	150945761	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	23244	150945761	29969499	2945	26896											
GLRA1	2741	broad.mit.edu	37	chr5	151208616	151208616	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catccaaatgtcaatggcttTcacataggacacctagagtg	8	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:151208616T>C	uc003lut.2	-	8	1212	c.925A>G	c.(925-927)AAA>GAA	p.K309E	GLRA1_uc003lur.2_Missense_Mutation_p.K309E|GLRA1_uc003lus.2_Missense_Mutation_p.K226E	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	glycine receptor, alpha 1 isoform 1 precursor	309					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			ovary(1)|central_nervous_system(1)	2		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCAATGGCTTTCACATAGGAC	0.463													C	151208616	T	C	151208616	3	2	27	1	0	0	0	0	1	0	0	0	6454	1792	62	3	456	3	GLRA1	5	151208616	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	262855	151208616	29706644	2946	26897											
FAM114A2	10827	broad.mit.edu	37	chr5	153372657	153372657	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggcgtcctggatgtaggagGcactgtttgatgcctgccag	15	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:153372657G>C	uc003lvb.2	-	14	1985	c.1397C>G	c.(1396-1398)GCC>GGC	p.A466G	FAM114A2_uc003lvc.2_Missense_Mutation_p.A466G|FAM114A2_uc003lvd.2_Missense_Mutation_p.A466G|FAM114A2_uc003lve.2_Missense_Mutation_p.A282G|FAM114A2_uc011dda.1_Missense_Mutation_p.A396G	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	hypothetical protein LOC10827	466							purine nucleotide binding				0						GATGTAGGAGGCACTGTTTGA	0.408													C	153372657	G	C	153372657	3	2	27	1	0	0	0	0	1	0	0	0	5404	1203	42	5	124	5	FAM114A2	5	153372657	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2164041	153372657	27542603	2947	26898											
GALNT10	55568	broad.mit.edu	37	chr5	153792469	153792469	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccgaaatgtgggcacaggGctgtgtgcagacacaaagca	13	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:153792469G>A	uc003lvh.2	+	10	1539	c.1407G>A	c.(1405-1407)GGG>GGA	p.G469G	GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Silent_p.G310G|uc003lvi.2_Intron|GALNT10_uc003lvj.2_Silent_p.G140G	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	469	Lumenal (Potential).|Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TGGGCACAGGGCTGTGTGCAG	0.602													A	153792469	G	A	153792469	2	1	27	1	0	0	0	0	0	0	0	1	6208	1190	42	2		2	GALNT10	5	153792469	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	419812	153792469	27122791	2948	26899											
SAP30L	79685	broad.mit.edu	37	chr5	153830686	153830686	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atctgtgattttcacaaaaaTttcatccagagtgtccgaaa	6	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:153830686T>A	uc003lvk.2	+	2	885	c.237T>A	c.(235-237)AAT>AAA	p.N79K	SAP30L_uc003lvm.3_RNA|SAP30L_uc011ddc.1_Intron|SAP30L_uc011ddd.1_Intron|SAP30L_uc003lvl.2_RNA	NM_024632	NP_078908	Q9HAJ7	SP30L_HUMAN	SAP30-like isoform 1	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|metal ion binding				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TTCACAAAAATTTCATCCAGA	0.433													A	153830686	T	A	153830686	3	1	27	1	0	0	0	0	1	0	0	0	13835	1490	52	5	243	5	SAP30L	5	153830686	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	38217	153830686	27084574	2949	26900											
LARP1	23367	broad.mit.edu	37	chr5	154135745	154135745	+	Frame_Shift_Del	DEL	C	C	-													gaccaccgtgaacggacagtCccccccaggtgggtctccct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:154135745delC	uc003lvp.2	+	1	857	c.428delC	c.(427-429)TCCfs	p.S143fs	LARP1_uc003lvo.2_Intron|LARP1_uc010jie.1_5'Flank	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	143							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AACGGACAGTCCCCCCCAGGT	0.642													-	154135745	C	-	154135745	7	5	27	1	0	1	0	1	0	0	0	0	8628	870	30	0		0	LARP1	5	154135745	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	305059	154135745	26779515	2950	26901											
LARP1	23367	broad.mit.edu	37	chr5	154169932	154169932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagctgttcctaaacagCgcaaaggcagcaaggtaaag	13	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:154169932C>T	uc003lvp.2	+	2	913	c.484C>T	c.(484-486)CGC>TGC	p.R162C	LARP1_uc003lvo.2_Missense_Mutation_p.R85C|LARP1_uc010jie.1_5'UTR	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	162							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCCTAAACAGCGCAAAGGCAG	0.517													T	154169932	C	T	154169932	3	4	27	1	0	0	0	0	1	0	0	0	8628	768	27	1	259	1	LARP1	5	154169932	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	34187	154169932	26745328	2951	26902											
LARP1	23367	broad.mit.edu	37	chr5	154185462	154185462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcccctcagaagggacGcctacagttggcagctatgg	12	13	1	1	rs138080657		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:154185462G>A	uc003lvp.2	+	15	2997	c.2568G>A	c.(2566-2568)ACG>ACA	p.T856T	LARP1_uc003lvo.2_Silent_p.T779T	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	856							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGAAGGGACGCCTACAGTTG	0.542													A	154185462	G	A	154185462	2	1	27	1	0	0	0	0	0	0	0	1	8628	1074	38	1		1	LARP1	5	154185462	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	15530	154185462	26729798	2952	26903											
GEMIN5	25929	broad.mit.edu	37	chr5	154287325	154287325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctttttcttctttttggGctttgccttaggttgagaga	12	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:154287325G>A	uc003lvx.3	-	16	2304	c.2221C>T	c.(2221-2223)CCC>TCC	p.P741S	GEMIN5_uc011ddk.1_Missense_Mutation_p.P740S	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	741	Poly-Lys.				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTCTTTTTGGGCTTTGCCTTA	0.388													A	154287325	G	A	154287325	3	1	27	1	0	0	0	0	1	0	0	0	6331	1203	42	2	2357	2	GEMIN5	5	154287325	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	101863	154287325	26627935	2953	26904											
GEMIN5	25929	broad.mit.edu	37	chr5	154311781	154311781	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctcctttcttactgatgTcaattatcaccactatgcca	3	13	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:154311781T>C	uc003lvx.3	-	4	622	c.539A>G	c.(538-540)GAC>GGC	p.D180G	GEMIN5_uc011ddk.1_Missense_Mutation_p.D180G	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	180	WD 3.				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTTACTGATGTCAATTATCAC	0.383													C	154311781	T	C	154311781	3	2	27	1	0	0	0	0	1	0	0	0	6331	1667	58	3	4087	3	GEMIN5	5	154311781	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	24456	154311781	26603479	2954	26905											
KIF4B	285643	broad.mit.edu	37	chr5	154393675	154393675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatataatgcaacggtcctgGcctatgggcagactggctct	12	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:154393675G>A	uc010jih.1	+	1	416	c.256G>A	c.(256-258)GCC>ACC	p.A86T		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	86	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AACGGTCCTGGCCTATGGGCA	0.453													A	154393675	G	A	154393675	3	1	27	1	0	0	0	0	1	0	0	0	8304	1203	42	2	258	2	KIF4B	5	154393675	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	81894	154393675	26521585	2955	26906											
HAVCR2	84868	broad.mit.edu	37	chr5	156514181	156514181	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgacatagcaataatActcattgggctcctccactt	7	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:156514181A>G	uc003lwk.1	-	7	982	c.838T>C	c.(838-840)TAT>CAT	p.Y280H		NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	T cell immunoglobulin mucin 3 precursor	280	Cytoplasmic (Potential).					integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAGCAATAATACTCATTGGGC	0.448													G	156514181	A	G	156514181	3	3	27	1	0	0	0	0	1	0	0	0	6974	391	14	3	71	3	HAVCR2	5	156514181	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2120506	156514181	24401079	2956	26907											
HAVCR2	84868	broad.mit.edu	37	chr5	156533902	156533902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcacgaggttccctggggCggctggggtgtagaagcagg	21	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:156533902C>T	uc003lwk.1	-	2	274	c.130G>A	c.(130-132)GCC>ACC	p.A44T	HAVCR2_uc003lwl.2_Missense_Mutation_p.A44T	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	T cell immunoglobulin mucin 3 precursor	44	Ig-like V-type.|Extracellular (Potential).					integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCCCTGGGGCGGCTGGGGTG	0.562													T	156533902	C	T	156533902	3	4	27	1	0	0	0	0	1	0	0	0	6974	768	27	1	799	1	HAVCR2	5	156533902	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	19721	156533902	24381358	2957	26908											
FAM71B	153745	broad.mit.edu	37	chr5	156589648	156589648	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttttgaaccaggagtgGccctgaggctccttaaaaaa	10	8	0	2	rs17852327		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:156589648G>T	uc003lwn.2	-	2	1728	c.1628C>A	c.(1627-1629)GCC>GAC	p.A543D		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	543						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCAGGAGTGGCCCTGAGGCT	0.453													T	156589648	G	T	156589648	3	4	27	1	0	0	0	0	1	0	0	0	5608	1203	42	5	193	5	FAM71B	5	156589648	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	55746	156589648	24325612	2958	26909											
FAM71B	153745	broad.mit.edu	37	chr5	156590270	156590270	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctaataccctctgaggataTgttggcagcacctgccatgg	11	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:156590270T>C	uc003lwn.2	-	2	1106	c.1006A>G	c.(1006-1008)ATA>GTA	p.I336V		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	336						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTGAGGATATGTTGGCAGCA	0.567													C	156590270	T	C	156590270	3	2	27	1	0	0	0	0	1	0	0	0	5608	1464	51	3	815	3	FAM71B	5	156590270	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	622	156590270	24324990	2959	26910											
ITK	3702	broad.mit.edu	37	chr5	156608049	156608049	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcccaacaaaagagaagaActtctccctcgaactttaaa	4	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:156608049A>G	uc003lwo.1	+	1	143	c.61A>G	c.(61-63)ACT>GCT	p.T21A		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	21	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAAGAGAAGAACTTCTCCCTC	0.443			T	SYK	peripheral T-cell lymphoma								G	156608049	A	G	156608049	3	3	27	1	0	0	0	0	1	0	0	0	7909	43	2	3	63	3	ITK	5	156608049	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	17779	156608049	24307211	2960	26911											
NIPAL4	348938	broad.mit.edu	37	chr5	156895765	156895765	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgccaactttggagcctacGcatttgcacctgcaacagtc	8	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:156895765G>T	uc003lwx.3	+	4	672	c.556G>T	c.(556-558)GCA>TCA	p.A186S	ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.A167S|NIPAL4_uc010jin.1_3'UTR	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	ichthyin protein	186	Extracellular (Potential).					integral to membrane	receptor activity				0						TGGAGCCTACGCATTTGCACC	0.507													T	156895765	G	T	156895765	3	4	27	1	0	0	0	0	1	0	0	0	10427	1087	38	5	570	5	NIPAL4	5	156895765	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	287716	156895765	24019495	2961	26912											
NIPAL4	348938	broad.mit.edu	37	chr5	156899932	156899932	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttgccagcacctcatcaccAgaagagaaacccaaagtatt	6	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:156899932A>T	uc003lwx.3	+	6	1481	c.1365A>T	c.(1363-1365)CCA>CCT	p.P455P	ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Silent_p.P436P	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	ichthyin protein	455	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						CCTCATCACCAGAAGAGAAAC	0.473													T	156899932	A	T	156899932	2	4	27	1	0	0	0	0	0	0	0	1	10427	175	7	5		5	NIPAL4	5	156899932	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4167	156899932	24015328	2962	26913											
ADAM19	8728	broad.mit.edu	37	chr5	156920054	156920054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccctcctcctcaggacctCggtagacgtgggtgccccgg	12	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:156920054C>T	uc003lwz.2	-	16	1899	c.1835G>A	c.(1834-1836)CGA>CAA	p.R612Q	ADAM19_uc003lww.1_Missense_Mutation_p.R345Q|ADAM19_uc003lwy.2_Missense_Mutation_p.R211Q|ADAM19_uc011ddr.1_Missense_Mutation_p.R543Q	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	612	Extracellular (Potential).|Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCAGGACCTCGGTAGACGTG	0.617													T	156920054	C	T	156920054	3	4	27	1	0	0	0	0	1	0	0	0	240	884	31	1	953	1	ADAM19	5	156920054	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	20122	156920054	23995206	2963	26914											
RNF145	153830	broad.mit.edu	37	chr5	158596721	158596721	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcattcatgaaagctcgatAaccctgcaagtaaaacttgc	6	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:158596721A>G	uc003lxp.2	-	7	1217	c.904T>C	c.(904-906)TAT>CAT	p.Y302H	RNF145_uc011ddy.1_Missense_Mutation_p.Y316H|RNF145_uc003lxo.1_Missense_Mutation_p.Y330H|RNF145_uc011ddz.1_Missense_Mutation_p.Y319H|RNF145_uc010jiq.1_Missense_Mutation_p.Y332H|RNF145_uc011dea.1_Missense_Mutation_p.Y318H	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	302						integral to membrane	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAGCTCGATAACCCTGCAAG	0.398													G	158596721	A	G	158596721	3	3	27	1	0	0	0	0	1	0	0	0	13447	362	13	3	1107	3	RNF145	5	158596721	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1676667	158596721	22318539	2964	26915											
IL12B	3593	broad.mit.edu	37	chr5	158747327	158747327	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aactcactgatgtccctgatGaagaagctgctggtgtagtt	11	8	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:158747327G>A	uc003lxr.1	-	5	726	c.684C>T	c.(682-684)TTC>TTT	p.F228F		NM_002187	NP_002178	P29460	IL12B_HUMAN	interleukin 12B precursor	228					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTCCCTGATGAAGAAGCTGC	0.363													A	158747327	G	A	158747327	2	1	27	1	0	0	0	0	0	0	0	1	7625	1281	45	4		4	IL12B	5	158747327	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	150606	158747327	22167933	2965	26916											
SLU7	10569	broad.mit.edu	37	chr5	159832114	159832114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatttgtatccccatcggCcttctttccagtacgatccc	6	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:159832114C>T	uc003lyg.2	-	13	1471	c.1316G>A	c.(1315-1317)GGC>GAC	p.G439D		NM_006425	NP_006416	O95391	SLU7_HUMAN	step II splicing factor SLU7	439					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			ovary(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCCCATCGGCCTTCTTTCCA	0.328													T	159832114	C	T	159832114	3	4	27	1	0	0	0	0	1	0	0	0	14755	739	26	2	460	2	SLU7	5	159832114	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1084787	159832114	21083146	2966	26917											
GABRA1	2554	broad.mit.edu	37	chr5	161317996	161317996	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgccatgcataatgacagtgAttctctcacaagtctccttc	6	12	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:161317996A>T	uc010jiw.2	+	9	1264	c.796A>T	c.(796-798)ATT>TTT	p.I266F	GABRA1_uc010jix.2_Missense_Mutation_p.I266F|GABRA1_uc010jiy.2_Missense_Mutation_p.I266F|GABRA1_uc003lyx.3_Missense_Mutation_p.I266F|GABRA1_uc010jiz.2_Missense_Mutation_p.I266F|GABRA1_uc010jja.2_Missense_Mutation_p.I266F|GABRA1_uc010jjb.2_Missense_Mutation_p.I266F	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	266	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AATGACAGTGATTCTCTCACA	0.418													T	161317996	A	T	161317996	3	4	27	1	0	0	0	0	1	0	0	0	6160	333	12	5	822	5	GABRA1	5	161317996	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1485882	161317996	19597264	2967	26918											
GABRG2	2566	broad.mit.edu	37	chr5	161580347	161580347	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctgcctgtttaatctggtCtattgggtctcctacctcta	7	11	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:161580347C>A	uc003lyz.3	+	9	1735	c.1377C>A	c.(1375-1377)GTC>GTA	p.V459V	GABRG2_uc010jjc.2_Silent_p.V507V|GABRG2_uc003lyy.3_Silent_p.V467V|GABRG2_uc011dej.1_Silent_p.V364V	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	459	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TTAATCTGGTCTATTGGGTCT	0.468													A	161580347	C	A	161580347	2	1	27	1	0	0	0	0	0	0	0	1	6172	900	32	5		5	GABRG2	5	161580347	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	262351	161580347	19334913	2968	26919											
ODZ2	57451	broad.mit.edu	37	chr5	167674382	167674382	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccagatcatcaccactgcCgtgatgaccctcagcaaaca	6	15	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:167674382C>T	uc010jjd.2	+	27	6411	c.6411C>T	c.(6409-6411)GCC>GCT	p.A2137A	ODZ2_uc003lzr.3_Silent_p.A1907A|ODZ2_uc003lzt.3_Silent_p.A1510A|ODZ2_uc010jje.2_Silent_p.A1401A	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TCACCACTGCCGTGATGACCC	0.493													T	167674382	C	T	167674382	2	4	27	1	0	0	0	0	0	0	0	1	10835	639	23	1		1	ODZ2	5	167674382	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6094035	167674382	13240878	2969	26920											
WWC1	23286	broad.mit.edu	37	chr5	167855037	167855037	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttccattttccttccctaGctgtgaatacggcccagggg	9	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:167855037G>T	uc003lzu.2	+	12	1904	c.1811_splice	c.e12-1	p.A604_splice	WWC1_uc003lzv.2_Splice_Site_p.A604_splice|WWC1_uc011den.1_Splice_Site_p.A604_splice|WWC1_uc003lzw.2_Splice_Site_p.A403_splice	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3						cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TCCTTCCCTAGCTGTGAATAC	0.458													T	167855037	G	T	167855037	5	4	27	1	0	0	0	0	0	0	1	0	17408	985	34	5	1856	5	WWC1	5	167855037	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	180655	167855037	13060223	2970	26921											
SLIT3	6586	broad.mit.edu	37	chr5	168244401	168244401	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactggccaactgtccgtcGctgtcgcagccaatccgaga	11	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:168244401G>A	uc003mab.2	-	8	1117	c.697C>T	c.(697-699)CGA>TGA	p.R233*	SLIT3_uc010jjg.2_Nonsense_Mutation_p.R233*|SLIT3_uc010jji.2_Nonsense_Mutation_p.R233*|SLIT3_uc003mac.1_Nonsense_Mutation_p.R30*	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	233	LRRCT 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTGTCCGTCGCTGTCGCAGC	0.612													A	168244401	G	A	168244401	4	1	27	1	0	0	0	0	0	1	0	0	14741	1095	38	1	3990	1	SLIT3	5	168244401	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	389364	168244401	12670859	2971	26922											
CCDC99	54908	broad.mit.edu	37	chr5	169018068	169018068	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagagttatgaacaagaaaAatatacccttcaaagagaag	7	6	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:169018068A>G	uc003mae.3	+	3	455	c.176A>G	c.(175-177)AAA>AGA	p.K59R	CCDC99_uc010jjj.2_5'UTR|CCDC99_uc011deq.1_5'UTR|CCDC99_uc010jjk.2_5'UTR	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	coiled-coil domain containing 99	59	Potential.				cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			ovary(1)|liver(1)	2	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAACAAGAAAAATATACCCTT	0.313													G	169018068	A	G	169018068	3	3	27	1	0	0	0	0	1	0	0	0	2876	14	1	3	182	3	CCDC99	5	169018068	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	773667	169018068	11897192	2972	26923											
DOCK2	1794	broad.mit.edu	37	chr5	169139186	169139186	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgatgaaagaagatgggActactctacacgatggattc	11	7	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:169139186A>G	uc003maf.2	+	17	1698	c.1618A>G	c.(1618-1620)ACT>GCT	p.T540A	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Intron|DOCK2_uc010jjl.1_Missense_Mutation_p.T58A	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	540	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAAGATGGGACTACTCTACA	0.448													G	169139186	A	G	169139186	3	3	27	1	0	0	0	0	1	0	0	0	4687	275	10	3	1684	3	DOCK2	5	169139186	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	121118	169139186	11776074	2973	26924											
DOCK2	1794	broad.mit.edu	37	chr5	169139203	169139203	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggactactctacacgatggAttccatgacttagttgtcct	9	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:169139203A>G	uc003maf.2	+	17	1715	c.1635A>G	c.(1633-1635)GGA>GGG	p.G545G	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Intron|DOCK2_uc010jjl.1_Silent_p.G63G	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	545	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACACGATGGATTCCATGACT	0.433													G	169139203	A	G	169139203	2	3	27	1	0	0	0	0	0	0	0	1	4687	320	12	3		3	DOCK2	5	169139203	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	17	169139203	11776057	2974	26925											
DOCK2	1794	broad.mit.edu	37	chr5	169188543	169188543	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaactcctgtatgagttctAcacctgcatccctcctgtga	6	15	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:169188543A>G	uc003maf.2	+	25	2548	c.2468A>G	c.(2467-2469)TAC>TGC	p.Y823C	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.Y315C	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	823					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TATGAGTTCTACACCTGCATC	0.483													G	169188543	A	G	169188543	3	3	27	1	0	0	0	0	1	0	0	0	4687	391	14	3	2566	3	DOCK2	5	169188543	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	49340	169188543	11726717	2975	26926											
DOCK2	1794	broad.mit.edu	37	chr5	169445980	169445980	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtcagaacaaaatctgCttcatcccaggcatggtagg	10	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:169445980C>T	uc003maf.2	+	33	3329	c.3249C>T	c.(3247-3249)TGC>TGT	p.C1083C	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.C575C	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1083	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAAAATCTGCTTCATCCCAG	0.478													T	169445980	C	T	169445980	2	4	27	1	0	0	0	0	0	0	0	1	4687	805	28	2		2	DOCK2	5	169445980	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	257437	169445980	11469280	2976	26927											
LCP2	3937	broad.mit.edu	37	chr5	169675795	169675795	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtggcattttcctgaagtagTcaataatatctgacacagac	8	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:169675795T>A	uc003man.1	-	21	1715	c.1508A>T	c.(1507-1509)GAC>GTC	p.D503V	C5orf58_uc003mal.2_Intron|LCP2_uc011des.1_Missense_Mutation_p.D298V|LCP2_uc011det.1_Missense_Mutation_p.D332V	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	503	SH2.				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CCTGAAGTAGTCAATAATATC	0.413													A	169675795	T	A	169675795	3	1	27	1	0	0	0	0	1	0	0	0	8692	1667	58	5	97	5	LCP2	5	169675795	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	229815	169675795	11239465	2977	26928											
LCP2	3937	broad.mit.edu	37	chr5	169685133	169685133	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaaagtgttggagctcatAggaagtagtgctggctgggg	19	4	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:169685133A>G	uc003man.1	-	16	1215	c.1008T>C	c.(1006-1008)CCT>CCC	p.P336P	LCP2_uc011des.1_Silent_p.P131P|LCP2_uc011det.1_Silent_p.P165P	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	336					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TGGAGCTCATAGGAAGTAGTG	0.483													G	169685133	A	G	169685133	2	3	27	1	0	0	0	0	0	0	0	1	8692	407	15	3		3	LCP2	5	169685133	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	9338	169685133	11230127	2978	26929											
KCNIP1	30820	broad.mit.edu	37	chr5	170149719	170149719	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccttttccccttctcaggaCtttgtaaccgctctgtcgat	7	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:170149719C>G	uc003mas.2	+	6	892	c.363C>G	c.(361-363)GAC>GAG	p.D121E	KCNIP1_uc003map.2_Missense_Mutation_p.D119E|KCNIP1_uc003mat.2_Missense_Mutation_p.D110E|KCNIP1_uc010jjp.2_Missense_Mutation_p.D82E|KCNIP1_uc010jjq.2_Missense_Mutation_p.D135E	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1 isoform 1	121	EF-hand 2.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			skin(2)	2	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTCTCAGGACTTTGTAACCG	0.428													G	170149719	C	G	170149719	3	3	27	1	0	0	0	0	1	0	0	0	8039	564	20	5	477	5	KCNIP1	5	170149719	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	464586	170149719	10765541	2979	26930											
RANBP17	64901	broad.mit.edu	37	chr5	170669797	170669797	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tactcatgtatgttctcacaTctatctcagagggactcact	6	11	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:170669797T>A	uc003mba.2	+	24	2765	c.2749T>A	c.(2749-2751)TCT>ACT	p.S917T	RANBP17_uc003mbb.2_Missense_Mutation_p.S242T|RANBP17_uc003mbd.2_Missense_Mutation_p.S280T|RANBP17_uc010jjs.2_RNA	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	917					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGTTCTCACATCTATCTCAGA	0.403			T	TRD@	ALL								A	170669797	T	A	170669797	3	1	27	1	0	0	0	0	1	0	0	0	13027	1435	50	5	2843	5	RANBP17	5	170669797	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	520078	170669797	10245463	2980	26931											
RANBP17	64901	broad.mit.edu	37	chr5	170725821	170725821	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggcagaggcgttgcgcagtGatggcaacactgaaccatgc	14	10	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:170725821G>A	uc003mba.2	+	28	3242	c.3226G>A	c.(3226-3228)GAT>AAT	p.D1076N	RANBP17_uc003mbb.2_Missense_Mutation_p.D401N|RANBP17_uc010jjs.2_RNA	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1076					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTTGCGCAGTGATGGCAACAC	0.502			T	TRD@	ALL								A	170725821	G	A	170725821	3	1	27	1	0	0	0	0	1	0	0	0	13027	1290	45	4	3336	4	RANBP17	5	170725821	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	56024	170725821	10189439	2981	26932											
NPM1	4869	broad.mit.edu	37	chr5	170818392	170818392	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcagtccaattaaagtAacactggcaactttgaaaat	8	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:170818392A>T	uc011dex.1	+	4	357	c.222A>T	c.(220-222)GTA>GTT	p.V74V	NPM1_uc003mbh.2_Silent_p.V74V|NPM1_uc003mbi.2_Silent_p.V74V|NPM1_uc003mbj.2_Silent_p.V74V	NM_002520	NP_002511	P06748	NPM_HUMAN	nucleophosmin 1 isoform 1	74	Necessary for interaction with APEX1.|Required for interaction with SENP3.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	haematopoietic_and_lymphoid_tissue(3109)|skin(1)	3110	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAATTAAAGTAACACTGGCAA	0.403			T|F 	ALK|RARA|MLF1	NHL|APL|AML								T	170818392	A	T	170818392	2	4	27	1	0	0	0	0	0	0	0	1	10587	349	13	5		5	NPM1	5	170818392	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	92571	170818392	10096868	2982	26933											
FBXW11	23291	broad.mit.edu	37	chr5	171303497	171303497	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atacagcctcattgtggtggAtcaatgtgttaagaacttca	9	7	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:171303497A>T	uc003mbm.1	-	8	1321	c.950T>A	c.(949-951)ATC>AAC	p.I317N	FBXW11_uc011dey.1_Missense_Mutation_p.I285N|FBXW11_uc003mbl.1_Missense_Mutation_p.I304N|FBXW11_uc003mbn.1_Missense_Mutation_p.I283N	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11 isoform	317					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)|breast(1)	2	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATTGTGGTGGATCAATGTGTT	0.478													T	171303497	A	T	171303497	3	4	27	1	0	0	0	0	1	0	0	0	5764	333	12	5	698	5	FBXW11	5	171303497	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	485105	171303497	9611763	2983	26934											
RPL26L1	51121	broad.mit.edu	37	chr5	172386991	172386991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgctctccaaggagctgCggcagaagtacaatgtccgc	11	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:172386991C>T	uc003mcc.2	+	2	157	c.115C>T	c.(115-117)CGG>TGG	p.R39W	LOC100268168_uc011dfb.1_5'Flank|LOC100268168_uc011dfc.1_5'Flank	NM_016093	NP_057177	Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	39					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome				0	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGGAGCTGCGGCAGAAGTA	0.597													T	172386991	C	T	172386991	3	4	27	1	0	0	0	0	1	0	0	0	13574	759	27	1	117	1	RPL26L1	5	172386991	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1083494	172386991	8528269	2984	26935											
NKX2-5	1482	broad.mit.edu	37	chr5	172660160	172660160	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgcccggggccgctccgcGttgtccgcctctgtcttctc	12	19	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:172660160G>A	uc003mcm.1	-	2	563	c.387C>T	c.(385-387)AAC>AAT	p.N129N	NKX2-5_uc011dfe.1_3'UTR|NKX2-5_uc010jjt.1_3'UTR	NM_004387	NP_004378	P52952	NKX25_HUMAN	NK2 transcription factor related, locus 5	129					adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCCGCTCCGCGTTGTCCGCCT	0.672													A	172660160	G	A	172660160	2	1	27	1	0	0	0	0	0	0	0	1	10453	1136	40	1		1	NKX2-5	5	172660160	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	273169	172660160	8255100	2985	26936											
STC2	8614	broad.mit.edu	37	chr5	172752893	172752893	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcaaattttccagcgTtgtgcagaaaagtcatgcaa	10	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:172752893T>C	uc003mco.1	-	2	1582	c.272A>G	c.(271-273)AAC>AGC	p.N91S	STC2_uc003mcn.1_Missense_Mutation_p.N6S	NM_003714	NP_003705	O76061	STC2_HUMAN	stanniocalcin 2 precursor	91					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			skin(2)|ovary(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTTTCCAGCGTTGTGCAGAAA	0.448													C	172752893	T	C	172752893	3	2	27	1	0	0	0	0	1	0	0	0	15275	1725	60	3	648	3	STC2	5	172752893	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	92733	172752893	8162367	2986	26937											
HMP19	51617	broad.mit.edu	37	chr5	173531319	173531319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcacctatgatcacagctGcccagagggattcgtctata	8	12	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:173531319G>A	uc003mcx.2	+	4	447	c.302G>A	c.(301-303)TGC>TAC	p.C101Y	HMP19_uc011dfh.1_Missense_Mutation_p.A5T	NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	HMP19 protein	101	Lumenal (Potential).				dopamine receptor signaling pathway	cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GATCACAGCTGCCCAGAGGGA	0.488													A	173531319	G	A	173531319	3	1	27	1	0	0	0	0	1	0	0	0	7245	1319	46	2	312	2	HMP19	5	173531319	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	778426	173531319	7383941	2987	26938											
CDHR2	54825	broad.mit.edu	37	chr5	176004773	176004773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagagcacagcgccaccGgctctgtggtcaccgacagc	12	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:176004773G>A	uc003mem.1	+	14	1552	c.1486G>A	c.(1486-1488)GGC>AGC	p.G496S	CDHR2_uc003men.1_Missense_Mutation_p.G496S	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	496	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						CAGCGCCACCGGCTCTGTGGT	0.532													A	176004773	G	A	176004773	3	1	27	1	0	0	0	0	1	0	0	0	3119	1116	39	1	1536	1	CDHR2	5	176004773	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2473454	176004773	4910487	2988	26939											
CDHR2	54825	broad.mit.edu	37	chr5	176005480	176005480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgctgcaggccacagacggCgggaacctgtcctcctccac	11	17	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:176005480C>T	uc003mem.1	+	16	1755	c.1689C>T	c.(1687-1689)GGC>GGT	p.G563G	CDHR2_uc003men.1_Silent_p.G563G	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	563	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						CCACAGACGGCGGGAACCTGT	0.617													T	176005480	C	T	176005480	2	4	27	1	0	0	0	0	0	0	0	1	3119	755	27	1		1	CDHR2	5	176005480	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	707	176005480	4909780	2989	26940											
CDHR2	54825	broad.mit.edu	37	chr5	176011262	176011262	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaggaggaggatccaggTatgtgctccctgggccagga	17	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:176011262T>C	uc003mem.1	+	18	2194	c.2128_splice	c.e18+2	p.G710_splice	CDHR2_uc003men.1_Splice_Site_p.G710_splice	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor						homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						AGGATCCAGGTATGTGCTCCC	0.567													C	176011262	T	C	176011262	5	2	27	1	0	0	0	0	0	0	1	0	3119	1652	57	3	2196	3	CDHR2	5	176011262	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	5782	176011262	4903998	2990	26941											
TSPAN17	26262	broad.mit.edu	37	chr5	176079745	176079745	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgtatgcccaaccccagtTctccgtgttcctcggtctca	7	16	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:176079745T>A	uc003met.2	+	4	516	c.287T>A	c.(286-288)TTC>TAC	p.F96Y	TSPAN17_uc003mes.3_Missense_Mutation_p.F30Y|TSPAN17_uc003meu.2_Missense_Mutation_p.F96Y|TSPAN17_uc003mev.2_Missense_Mutation_p.F96Y|TSPAN17_uc003mew.2_Missense_Mutation_p.F96Y	NM_012171	NP_036303	Q96FV3	TSN17_HUMAN	transmembrane 4 superfamily member 17 isoform a	96	Helical; (Potential).					integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity				0	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAACCCCAGTTCTCCGTGTTC	0.577													A	176079745	T	A	176079745	3	1	27	1	0	0	0	0	1	0	0	0	16638	1797	62	5	301	5	TSPAN17	5	176079745	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	68483	176079745	4835515	2991	26942											
UNC5A	90249	broad.mit.edu	37	chr5	176295830	176295830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggacccgtccctggacCccaatgtatacatcacgcgg	11	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:176295830C>T	uc003mey.2	+	5	778	c.586C>T	c.(586-588)CCC>TCC	p.P196S	UNC5A_uc003mex.1_Missense_Mutation_p.P196S|UNC5A_uc010jkg.1_Missense_Mutation_p.P156S	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	196	Ig-like C2-type.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCCCTGGACCCCAATGTATA	0.652													T	176295830	C	T	176295830	3	4	27	1	0	0	0	0	1	0	0	0	16988	623	22	4	604	4	UNC5A	5	176295830	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	216085	176295830	4619430	2992	26943											
UNC5A	90249	broad.mit.edu	37	chr5	176297464	176297464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctctgacccagcaccccGcaacggaggggaggagtgcc	15	14	1	1	rs147243158	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:176297464G>A	uc003mey.2	+	6	1007	c.815G>A	c.(814-816)CGC>CAC	p.R272H	UNC5A_uc003mex.1_Missense_Mutation_p.R272H|UNC5A_uc010jkg.1_Missense_Mutation_p.R232H	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	272	TSP type-1.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGCACCCCGCAACGGAGGG	0.642													A	176297464	G	A	176297464	3	1	27	1	0	0	0	0	1	0	0	0	16988	1087	38	1	837	1	UNC5A	5	176297464	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1634	176297464	4617796	2993	26944											
UNC5A	90249	broad.mit.edu	37	chr5	176306343	176306343	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctgagctgctggctctggaGagtgaagcgggggtcccagc	18	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:176306343G>T	uc003mey.2	+	14	2409	c.2217G>T	c.(2215-2217)GAG>GAT	p.E739D		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	739	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCTCTGGAGAGTGAAGCGG	0.617													T	176306343	G	T	176306343	3	4	27	1	0	0	0	0	1	0	0	0	16988	933	33	5	2271	5	UNC5A	5	176306343	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	8879	176306343	4608917	2994	26945											
HK3	3101	broad.mit.edu	37	chr5	176314586	176314586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcatggttcaaccggaatGgggccagggtctcctccagc	13	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:176314586G>A	uc003mfa.2	-	11	1558	c.1466C>T	c.(1465-1467)CCA>CTA	p.P489L	HK3_uc003mez.2_Missense_Mutation_p.P45L	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	489	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAACCGGAATGGGGCCAGGGT	0.672													A	176314586	G	A	176314586	3	1	27	1	0	0	0	0	1	0	0	0	7192	1348	47	4	1341	4	HK3	5	176314586	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	8243	176314586	4600674	2995	26946											
NSD1	64324	broad.mit.edu	37	chr5	176562872	176562872	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcagcccttctcccagcCcccttttcactaggagacac	6	17	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:176562872C>T	uc003mfr.3	+	2	906	c.768C>T	c.(766-768)GCC>GCT	p.A256A	NSD1_uc003mft.3_Intron|NSD1_uc003mfs.1_Silent_p.A256A|NSD1_uc011dfx.1_Intron|NSD1_uc003mfp.2_Silent_p.A256A|NSD1_uc003mfq.2_Silent_p.A256A	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	256					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTCTCCCAGCCCCCTTTTCAC	0.398			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			T	176562872	C	T	176562872	2	4	27	1	0	0	0	0	0	0	0	1	10669	610	22	4		4	NSD1	5	176562872	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	248286	176562872	4352388	2996	26947											
NSD1	64324	broad.mit.edu	37	chr5	176694615	176694615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcttttcatcgtgaatgCctgaacattgatatccctga	8	10	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:176694615C>T	uc003mfr.3	+	15	5337	c.5199C>T	c.(5197-5199)TGC>TGT	p.C1733C	NSD1_uc003mft.3_Silent_p.C1464C|NSD1_uc003mfs.1_Silent_p.C1630C|NSD1_uc011dfx.1_Silent_p.C1381C	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1733	PHD-type 3.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATCGTGAATGCCTGAACATTG	0.448			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			T	176694615	C	T	176694615	2	4	27	1	0	0	0	0	0	0	0	1	10669	747	26	2		2	NSD1	5	176694615	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	131743	176694615	4220645	2997	26948											
NSD1	64324	broad.mit.edu	37	chr5	176707623	176707623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacttatctgaaatacccCgttgcaactgtaaagctact	6	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:176707623C>T	uc003mfr.3	+	18	5818	c.5680C>T	c.(5680-5682)CGT>TGT	p.R1894C	NSD1_uc003mft.3_Missense_Mutation_p.R1625C|NSD1_uc003mfs.1_Missense_Mutation_p.R1791C|NSD1_uc011dfx.1_Missense_Mutation_p.R1542C	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1894	AWS.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGAAATACCCCGTTGCAACTG	0.478			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			T	176707623	C	T	176707623	3	4	27	1	0	0	0	0	1	0	0	0	10669	652	23	1	5746	1	NSD1	5	176707623	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	13008	176707623	4207637	2998	26949											
MXD3	83463	broad.mit.edu	37	chr5	176734623	176734623	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccgccgtgcgagtagctgTgctcctggccggcgacgaag	16	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:176734623T>C	uc003mgb.2	-	6	1048	c.587A>G	c.(586-588)CAC>CGC	p.H196R	MXD3_uc010jkk.2_Intron|MXD3_uc003mga.3_Missense_Mutation_p.T222A|MXD3_uc003mgc.2_Missense_Mutation_p.H186R	NM_031300	NP_112590	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3 isoform a	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGAGTAGCTGTGCTCCTGGCC	0.706													C	176734623	T	C	176734623	3	2	27	1	0	0	0	0	1	0	0	0	10000	1696	59	3	118	3	MXD3	5	176734623	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	27000	176734623	4180637	2999	26950											
LMAN2	10960	broad.mit.edu	37	chr5	176765512	176765512	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacgaggcggtcccgggtgTaccacaaggcgatgccgtct	15	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:176765512T>C	uc003mge.2	-	3	647	c.410A>G	c.(409-411)TAC>TGC	p.Y137C	LMAN2_uc003mgd.2_Missense_Mutation_p.Y137C	NM_006816	NP_006807	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2 precursor	137	Lumenal (Potential).|L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCCCGGGTGTACCACAAGGC	0.647													C	176765512	T	C	176765512	3	2	27	1	0	0	0	0	1	0	0	0	8838	1638	57	3	684	3	LMAN2	5	176765512	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	30889	176765512	4149748	3000	26951											
SLC34A1	6569	broad.mit.edu	37	chr5	176814840	176814840	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccaacaccatcgtggccCtgatgcaggcgggggacagg	14	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:176814840C>T	uc003mgk.3	+	6	711	c.610C>T	c.(610-612)CTG>TTG	p.L204L		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	solute carrier family 34 (sodium phosphate),	204	Extracellular (Potential).				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATCGTGGCCCTGATGCAGGC	0.642													T	176814840	C	T	176814840	2	4	27	1	0	0	0	0	0	0	0	1	14567	680	24	4		4	SLC34A1	5	176814840	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	49328	176814840	4100420	3001	26952											
DDX41	51428	broad.mit.edu	37	chr5	176943356	176943356	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggactgagggcctagcggGatgtcgtcctcatctccccg	13	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:176943356G>A	uc003mho.2	-	3	252	c.231C>T	c.(229-231)ATC>ATT	p.I77I	DDX41_uc003mhm.2_5'Flank|DDX41_uc003mhn.2_5'UTR|DDX41_uc003mhp.2_5'UTR|DDX41_uc003mhq.1_5'UTR	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	77					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GGCCTAGCGGGATGTCGTCCT	0.612													A	176943356	G	A	176943356	2	1	27	1	0	0	0	0	0	0	0	1	4361	1164	41	4		4	DDX41	5	176943356	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	128516	176943356	3971904	3002	26953											
TMED9	54732	broad.mit.edu	37	chr5	177022356	177022356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaccctcatcctcgtggCcatcggtgtctggcagatgc	12	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:177022356C>T	uc003mhx.2	+	5	650	c.647C>T	c.(646-648)GCC>GTC	p.A216V	TMED9_uc010jko.2_RNA	NM_017510	NP_059980	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain	216	Helical; (Potential).				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane					0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCCTCGTGGCCATCGGTGTC	0.612													T	177022356	C	T	177022356	3	4	27	1	0	0	0	0	1	0	0	0	16009	739	26	2	665	2	TMED9	5	177022356	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	79000	177022356	3892904	3003	26954											
PROP1	5626	broad.mit.edu	37	chr5	177419899	177419899	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taggggtgagggaagcaggtCactggtggtggtggtgctgc	21	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:177419899C>T	uc003mif.1	-	3	801	c.492G>A	c.(490-492)GTG>GTA	p.V164V		NM_006261	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	164					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAAGCAGGTCACTGGTGGTG	0.597													T	177419899	C	T	177419899	2	4	27	1	0	0	0	0	0	0	0	1	12557	813	29	4		4	PROP1	5	177419899	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	397543	177419899	3495361	3004	26955											
COL23A1	91522	broad.mit.edu	37	chr5	177682016	177682016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccctgctcgcccttgagGcctggggcaccctgaggcag	13	16	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:177682016G>A	uc003mje.2	-	16	1252	c.894C>T	c.(892-894)GGC>GGT	p.G298G	COL23A1_uc010jkt.2_Silent_p.G180G	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	298	Extracellular (Potential).|Collagen-like 2.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CGCCCTTGAGGCCTGGGGCAC	0.552													A	177682016	G	A	177682016	2	1	27	1	0	0	0	0	0	0	0	1	3682	1190	42	2		2	COL23A1	5	177682016	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	262117	177682016	3233244	3005	26956											
ZNF354B	117608	broad.mit.edu	37	chr5	178293336	178293336	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaaacttgtaccgggatgTgatgctggagaactatagga	14	5	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:178293336T>C	uc003mjl.2	+	3	351	c.125T>C	c.(124-126)GTG>GCG	p.V42A	ZNF354B_uc003mjm.2_Missense_Mutation_p.V42A	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACCGGGATGTGATGCTGGAG	0.483													C	178293336	T	C	178293336	3	2	27	1	0	0	0	0	1	0	0	0	17862	1696	59	3	131	3	ZNF354B	5	178293336	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	611320	178293336	2621924	3006	26957											
ZFP2	80108	broad.mit.edu	37	chr5	178359389	178359389	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccttatgagtgtatggtgTgtggaaaacatttcactgga	11	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:178359389T>C	uc003mjn.1	+	5	1584	c.1075T>C	c.(1075-1077)TGT>CGT	p.C359R	ZFP2_uc010jky.2_Missense_Mutation_p.C359R|ZFP2_uc010jkx.1_Missense_Mutation_p.C359R	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	359	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GTGTATGGTGTGTGGAAAACA	0.413													C	178359389	T	C	178359389	3	2	27	1	0	0	0	0	1	0	0	0	17638	1696	59	3	1077	3	ZFP2	5	178359389	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	66053	178359389	2555871	3007	26958											
ZNF454	285676	broad.mit.edu	37	chr5	178392092	178392092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcctttcaccagagtacGcaccttatccatcaccaaag	5	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:178392092G>A	uc003mjo.1	+	5	958	c.687G>A	c.(685-687)ACG>ACA	p.T229T	ZNF454_uc010jkz.1_Silent_p.T229T	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	229	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		ACCAGAGTACGCACCTTATCC	0.388													A	178392092	G	A	178392092	2	1	27	1	0	0	0	0	0	0	0	1	17920	1074	38	1		1	ZNF454	5	178392092	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	32703	178392092	2523168	3008	26959											
GRM6	2916	broad.mit.edu	37	chr5	178408805	178408805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagcatgccgagggacacCgaggcactcaggctcaagga	14	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:178408805C>T	uc003mjr.2	-	10	2666	c.2487G>A	c.(2485-2487)TCG>TCA	p.S829S	GRM6_uc003mjq.2_Silent_p.S232S	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	829	Helical; Name=7; (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CGAGGGACACCGAGGCACTCA	0.577													T	178408805	C	T	178408805	2	4	27	1	0	0	0	0	0	0	0	1	6801	639	23	1		1	GRM6	5	178408805	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	16713	178408805	2506455	3009	26960											
GRM6	2916	broad.mit.edu	37	chr5	178413301	178413301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggaagagcctgcgggCggcacagaccgcggccccag	16	16	0	2	rs150850494		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:178413301C>T	uc003mjr.2	-	8	2133	c.1954G>A	c.(1954-1956)GCC>ACC	p.A652T	GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.A235T|GRM6_uc003mjs.1_Missense_Mutation_p.A272T	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	652	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGCCTGCGGGCGGCACAGACC	0.642													T	178413301	C	T	178413301	3	4	27	1	0	0	0	0	1	0	0	0	6801	768	27	1	691	1	GRM6	5	178413301	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4496	178413301	2501959	3010	26961											
ADAMTS2	9509	broad.mit.edu	37	chr5	178699971	178699971	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggtggccggcgatacaccAcatgcacacggccttgctca	12	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:178699971A>G	uc003mjw.2	-	3	629	c.629T>C	c.(628-630)GTG>GCG	p.V210A	ADAMTS2_uc011dgm.1_Missense_Mutation_p.V210A	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	210					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCGATACACCACATGCACACG	0.667													G	178699971	A	G	178699971	3	3	27	1	0	0	0	0	1	0	0	0	265	159	6	3	3161	3	ADAMTS2	5	178699971	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	286670	178699971	2215289	3011	26962											
MAML1	9794	broad.mit.edu	37	chr5	179201856	179201856	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtggatgagtgatttggAcgacctgttagggtctcagt	16	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:179201856A>G	uc003mkm.2	+	5	3292	c.3029A>G	c.(3028-3030)GAC>GGC	p.D1010G	MAML1_uc003mkn.1_Intron	NM_014757	NP_055572	Q92585	MAML1_HUMAN	mastermind-like 1	1010					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			lung(4)|ovary(2)	6	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTGATTTGGACGACCTGTTA	0.448													G	179201856	A	G	179201856	3	3	27	1	0	0	0	0	1	0	0	0	9205	275	10	3	3047	3	MAML1	5	179201856	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	501885	179201856	1713404	3012	26963											
SQSTM1	8878	broad.mit.edu	37	chr5	179251252	179251252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccaggatgggaaatggGtccaccaggaaactggagcc	16	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:179251252G>A	uc003mkw.3	+	4	697	c.602G>A	c.(601-603)GGT>GAT	p.G201D	SQSTM1_uc011dgr.1_Missense_Mutation_p.G117D|SQSTM1_uc011dgs.1_Missense_Mutation_p.G117D|SQSTM1_uc003mkv.3_Missense_Mutation_p.G201D|SQSTM1_uc003mkx.2_Missense_Mutation_p.G117D	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1 isoform 1	201	Interaction with GABRR3 (By similarity).|LIM protein-binding (LB).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGAAATGGGTCCACCAGGA	0.637									Paget_Disease_of_Bone				A	179251252	G	A	179251252	3	1	27	1	0	0	0	0	1	0	0	0	15129	1261	44	4	616	4	SQSTM1	5	179251252	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	49396	179251252	1664008	3013	26964											
TBC1D9B	23061	broad.mit.edu	37	chr5	179302057	179302057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctctcgaagggcatgacGctgaggaagagggtcaggaa	17	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:179302057G>A	uc003mlh.2	-	12	2068	c.2031C>T	c.(2029-2031)AGC>AGT	p.S677S	TBC1D9B_uc003mli.2_Silent_p.S677S|TBC1D9B_uc003mlj.2_Silent_p.S677S|TBC1D9B_uc011dgv.1_5'Flank	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	677	Helical; (Potential).|Rab-GAP TBC.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGGCATGACGCTGAGGAAGA	0.602													A	179302057	G	A	179302057	2	1	27	1	0	0	0	0	0	0	0	1	15625	1078	38	1		1	TBC1D9B	5	179302057	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	50805	179302057	1613203	3014	26965											
RASGEF1C	255426	broad.mit.edu	37	chr5	179548085	179548085	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatctcagttgccaccaggTagcacagcctgttgaaccat	9	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:179548085T>C	uc003mlq.2	-	6	1076	c.779A>G	c.(778-780)TAC>TGC	p.Y260C	RASGEF1C_uc003mlr.2_Missense_Mutation_p.Y260C|RASGEF1C_uc003mlp.3_Missense_Mutation_p.Y109C	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	260	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCCACCAGGTAGCACAGCCT	0.587													C	179548085	T	C	179548085	3	2	27	1	0	0	0	0	1	0	0	0	13071	1638	57	3	653	3	RASGEF1C	5	179548085	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	246028	179548085	1367175	3015	26966											
RASGEF1C	255426	broad.mit.edu	37	chr5	179564616	179564616	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccggcttgtccagctGctgctgctcgatgcacaggt	12	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:179564616G>A	uc003mlq.2	-	2	571	c.274C>T	c.(274-276)CAG>TAG	p.Q92*	RASGEF1C_uc003mlr.2_Nonsense_Mutation_p.Q92*|RASGEF1C_uc003mlp.3_5'Flank	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	92	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGTCCAGCTGCTGCTGCTCG	0.632													A	179564616	G	A	179564616	4	1	27	1	0	0	0	0	0	1	0	0	13071	1328	46	2	1174	2	RASGEF1C	5	179564616	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	16531	179564616	1350644	3016	26967											
RASGEF1C	255426	broad.mit.edu	37	chr5	179565047	179565047	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggaggcactcagcgtctgTggcatgtctgcctgcaatgg	14	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:179565047T>C	uc003mlq.2	-	1	303	c.6A>G	c.(4-6)CCA>CCG	p.P2P	RASGEF1C_uc003mlr.2_Silent_p.P2P|RASGEF1C_uc003mlp.3_5'Flank	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	2					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAGCGTCTGTGGCATGTCTG	0.667													C	179565047	T	C	179565047	2	2	27	1	0	0	0	0	0	0	0	1	13071	1683	59	3		3	RASGEF1C	5	179565047	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	431	179565047	1350213	3017	26968											
MAPK9	5601	broad.mit.edu	37	chr5	179688787	179688787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccatgtgaataacctgaCataagttagcatccattaat	6	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:179688787C>T	uc003mls.3	-	5	618	c.347G>A	c.(346-348)TGT>TAT	p.C116Y	MAPK9_uc003mlt.3_Missense_Mutation_p.C116Y|MAPK9_uc010jlc.2_Missense_Mutation_p.C116Y|MAPK9_uc003mlv.3_Missense_Mutation_p.C116Y|MAPK9_uc011dgx.1_Missense_Mutation_p.C116Y	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	116	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATAACCTGACATAAGTTAGC	0.338													T	179688787	C	T	179688787	3	4	27	1	0	0	0	0	1	0	0	0	9287	478	17	4	1081	4	MAPK9	5	179688787	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	123740	179688787	1226473	3018	26969											
MAPK9	5601	broad.mit.edu	37	chr5	179696371	179696371	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaggacggcttagtttcttgActgcaacatttatcccaaga	8	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:179696371A>T	uc003mls.3	-	3	432	c.161T>A	c.(160-162)GTC>GAC	p.V54D	MAPK9_uc003mlt.3_Missense_Mutation_p.V54D|MAPK9_uc010jlc.2_Missense_Mutation_p.V54D|MAPK9_uc003mlv.3_Missense_Mutation_p.V54D|MAPK9_uc011dgx.1_Missense_Mutation_p.V54D	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	54	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGTTTCTTGACTGCAACATT	0.353													T	179696371	A	T	179696371	3	4	27	1	0	0	0	0	1	0	0	0	9287	275	10	5	1275	5	MAPK9	5	179696371	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	7584	179696371	1218889	3019	26970											
FLT4	2324	broad.mit.edu	37	chr5	180049752	180049752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcacatagaagtagatgaGccgctcatcctggcccacct	10	13	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:180049752G>A	uc003mma.3	-	12	1715	c.1636C>T	c.(1636-1638)CTC>TTC	p.L546F	FLT4_uc003mlz.3_Missense_Mutation_p.L546F|FLT4_uc003mmb.1_Missense_Mutation_p.L79F|FLT4_uc011dgy.1_Missense_Mutation_p.L546F	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	546	Ig-like C2-type 5.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	AAGTAGATGAGCCGCTCATCC	0.577									Congenital_Hereditary_Lymphedema				A	180049752	G	A	180049752	3	1	27	1	0	0	0	0	1	0	0	0	5944	971	34	2	2539	2	FLT4	5	180049752	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	353381	180049752	865508	3020	26971											
OR2Y1	134083	broad.mit.edu	37	chr5	180166620	180166620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaacccgcaccccaggaggCgatagccagggtctggcaga	14	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:180166620C>T	uc003mmf.1	-	1	439	c.439G>A	c.(439-441)GCC>ACC	p.A147T		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y,	147	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCAGGAGGCGATAGCCAGG	0.572													T	180166620	C	T	180166620	3	4	27	1	0	0	0	0	1	0	0	0	11035	768	27	1	500	1	OR2Y1	5	180166620	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	116868	180166620	748640	3021	26972											
MGAT1	4245	broad.mit.edu	37	chr5	180219453	180219453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaacttgcggtggtccggCggcaccgcaatgctgctcag	15	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:180219453C>T	uc003mmg.3	-	2	1014	c.519G>A	c.(517-519)CCG>CCA	p.P173P	MGAT1_uc010jlf.2_Silent_p.P173P|MGAT1_uc010jlg.2_Silent_p.P173P|MGAT1_uc003mmh.3_Silent_p.P173P|MGAT1_uc010jlh.2_Silent_p.P173P|MGAT1_uc003mmi.3_Silent_p.P173P	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	173	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(1)	1	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGGTCCGGCGGCACCGCAA	0.706													T	180219453	C	T	180219453	2	4	27	1	0	0	0	0	0	0	0	1	9542	755	27	1		1	MGAT1	5	180219453	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	52833	180219453	695807	3022	26973											
OR2V2	285659	broad.mit.edu	37	chr5	180582008	180582008	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaggcatcttctcccacagTactgctgaccttgtcctctt	6	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:180582008T>C	uc011dhj.1	+	1	66	c.66T>C	c.(64-66)AGT>AGC	p.S22S		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCCCACAGTACTGCTGACC	0.537													C	180582008	T	C	180582008	2	2	27	1	0	0	0	0	0	0	0	1	11031	1635	57	3		3	OR2V2	5	180582008	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	362555	180582008	333252	3023	26974											
TRIM52	84851	broad.mit.edu	37	chr5	180687728	180687728	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagctgatggacacgggGtccttgaagtaatccaagca	11	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr5:180687728G>A	uc003mnp.2	-	1	392	c.87C>T	c.(85-87)GAC>GAT	p.D29D	uc003mnq.2_5'Flank	NM_032765	NP_116154	Q96A61	TRI52_HUMAN	tripartite motif-containing 52	29	RING-type.					intracellular	zinc ion binding				0	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		TGGACACGGGGTCCTTGAAGT	0.468													A	180687728	G	A	180687728	2	1	27	1	0	0	0	0	0	0	0	1	16524	1252	44	4		4	TRIM52	5	180687728	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	105720	180687728	227532	3024	26975											
DUSP22	56940	broad.mit.edu	37	chr6	335142	335142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacctgtgcatcccagcagCggattcaccatctcaaaacc	6	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:335142C>T	uc003msx.2	+	4	606	c.167C>T	c.(166-168)GCG>GTG	p.A56V	DUSP22_uc011dhn.1_Missense_Mutation_p.A56V|DUSP22_uc003msy.1_Missense_Mutation_p.A13V	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	56					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		ATCCCAGCAGCGGATTCACCA	0.323													T	335142	C	T	335142	3	4	27	1	0	0	0	0	1	0	0	0	4821	768	27	1	181	1	DUSP22	6	335142	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08		335142	170779925	3025	26976											
IRF4	3662	broad.mit.edu	37	chr6	405036	405036	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagctgcaagcgtttgctcAccacggccgctccctgccaa	10	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:405036A>G	uc003msz.3	+	8	1231	c.1118A>G	c.(1117-1119)CAC>CGC	p.H373R	IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.H372R	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	373					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GCGTTTGCTCACCACGGCCGC	0.512			T	IGH@	MM 								G	405036	A	G	405036	3	3	27	1	0	0	0	0	1	0	0	0	7832	159	6	3	1144	3	IRF4	6	405036	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	69894	405036	170710031	3026	26977											
EXOC2	55770	broad.mit.edu	37	chr6	486729	486729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgagctgcaagtgcatgCtactcttgaacttgttcagg	12	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:486729C>T	uc003mtd.2	-	28	2851	c.2717G>A	c.(2716-2718)AGC>AAC	p.S906N	EXOC2_uc003mte.2_Missense_Mutation_p.S906N|EXOC2_uc011dho.1_Missense_Mutation_p.S501N	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	906					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CAAGTGCATGCTACTCTTGAA	0.453													T	486729	C	T	486729	3	4	27	1	0	0	0	0	1	0	0	0	5302	797	28	2	61	2	EXOC2	6	486729	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	81693	486729	170628338	3027	26978											
EXOC2	55770	broad.mit.edu	37	chr6	532476	532476	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttattacttacctgttggAggcaggcagtccttccaatc	8	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:532476A>T	uc003mtd.2	-	23	2507	c.2373T>A	c.(2371-2373)CCT>CCA	p.P791P	EXOC2_uc003mte.2_Silent_p.P791P|EXOC2_uc011dho.1_Silent_p.P386P	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	791					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TACCTGTTGGAGGCAGGCAGT	0.348													T	532476	A	T	532476	2	4	27	1	0	0	0	0	0	0	0	1	5302	291	11	5		5	EXOC2	6	532476	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	45747	532476	170582591	3028	26979											
EXOC2	55770	broad.mit.edu	37	chr6	592505	592505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagccctctttgcaactgtGcatgagctgaaggatccact	10	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:592505G>A	uc003mtd.2	-	11	1290	c.1156C>T	c.(1156-1158)CAC>TAC	p.H386Y	EXOC2_uc003mte.2_Missense_Mutation_p.H386Y|EXOC2_uc011dho.1_Intron	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	386					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTGCAACTGTGCATGAGCTGA	0.463													A	592505	G	A	592505	3	1	27	1	0	0	0	0	1	0	0	0	5302	1319	46	2	1690	2	EXOC2	6	592505	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	60029	592505	170522562	3029	26980											
MYLK4	340156	broad.mit.edu	37	chr6	2680510	2680510	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttagcatcccgattcacacAcaggatattctcaggctgcc	7	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:2680510A>G	uc003mty.3	-	8	1000	c.703T>C	c.(703-705)TGT>CGT	p.C235R	MYLK4_uc003mtx.3_5'Flank	NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	235	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(3)|ovary(1)	4	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				CGATTCACACACAGGATATTC	0.398													G	2680510	A	G	2680510	3	3	27	1	0	0	0	0	1	0	0	0	10059	159	6	3	483	3	MYLK4	6	2680510	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2088005	2680510	168434557	3030	26981											
SERPINB6	5269	broad.mit.edu	37	chr6	2948804	2948804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagtcatgcccaggttgcGcaggacactctccatgtcgt	10	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:2948804G>A	uc003muk.2	-	6	2854	c.859C>T	c.(859-861)CGC>TGC	p.R287C	SERPINB6_uc003mui.2_Missense_Mutation_p.R170C|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.R287C|SERPINB6_uc003mum.2_Missense_Mutation_p.R287C|SERPINB6_uc003mun.2_Missense_Mutation_p.R287C|SERPINB6_uc003muo.2_Missense_Mutation_p.R287C	NM_004568	NP_004559	P35237	SPB6_HUMAN	serine (or cysteine) proteinase inhibitor, clade	287					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity				0	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	CCCAGGTTGCGCAGGACACTC	0.542													A	2948804	G	A	2948804	3	1	27	1	0	0	0	0	1	0	0	0	14105	1087	38	1	275	1	SERPINB6	6	2948804	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	268294	2948804	168166263	3031	26982											
SERPINB6	5269	broad.mit.edu	37	chr6	2954826	2954826	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaataacaatacattttcacCttctgtcttttcagctaccc	3	12	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:2954826C>A	uc003muk.2	-	3	2425	c.430G>T	c.(430-432)GGT>TGT	p.G144C	SERPINB6_uc003mui.2_Missense_Mutation_p.G27C|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.G144C|SERPINB6_uc003mum.2_Missense_Mutation_p.G144C|SERPINB6_uc003mun.2_Missense_Mutation_p.G144C|SERPINB6_uc003muo.2_Missense_Mutation_p.G144C	NM_004568	NP_004559	P35237	SPB6_HUMAN	serine (or cysteine) proteinase inhibitor, clade	144					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity				0	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	ACATTTTCACCTTCTGTCTTT	0.363													A	2954826	C	A	2954826	3	1	27	1	0	0	0	0	1	0	0	0	14105	695	24	5	716	5	SERPINB6	6	2954826	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6022	2954826	168160241	3032	26983											
FAM50B	26240	broad.mit.edu	37	chr6	3850883	3850883	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgtgcgcctgctcagcgacGccaccatggagaaggacgag	14	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:3850883G>T	uc003mvu.2	+	2	950	c.838G>T	c.(838-840)GCC>TCC	p.A280S		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	280						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GCTCAGCGACGCCACCATGGA	0.632													T	3850883	G	T	3850883	3	4	27	1	0	0	0	0	1	0	0	0	5578	1087	38	5	840	5	FAM50B	6	3850883	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	896057	3850883	167264184	3033	26984											
PRPF4B	8899	broad.mit.edu	37	chr6	4031897	4031897	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacaaaaaaaagaagcataAacacagaagtaaacataaga	5	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:4031897A>G	uc003mvv.2	+	2	237	c.146A>G	c.(145-147)AAA>AGA	p.K49R	PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	49	His-rich.|Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				aagaagcataaacacagaagt	0.154													G	4031897	A	G	4031897	3	3	27	1	0	0	0	0	1	0	0	0	12573	14	1	3	152	3	PRPF4B	6	4031897	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	181014	4031897	167083170	3034	26985											
PRPF4B	8899	broad.mit.edu	37	chr6	4032892	4032892	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagatctaagcagagcaaaTccccctcgcggacactgtct	9	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:4032892T>C	uc003mvv.2	+	2	1232	c.1141T>C	c.(1141-1143)TCC>CCC	p.S381P	PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	381	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GCAGAGCAAATCCCCCTCGCG	0.458													C	4032892	T	C	4032892	3	2	27	1	0	0	0	0	1	0	0	0	12573	1435	50	3	1147	3	PRPF4B	6	4032892	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	995	4032892	167082175	3035	26986											
PRPF4B	8899	broad.mit.edu	37	chr6	4053072	4053072	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactccttaaaagatgcaatAtcctacatgcagatatcaag	5	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:4053072A>G	uc003mvv.2	+	11	2522	c.2431A>G	c.(2431-2433)ATC>GTC	p.I811V	PRPF4B_uc003mvw.2_RNA|C6orf146_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	811	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AAGATGCAATATCCTACATGC	0.368													G	4053072	A	G	4053072	3	3	27	1	0	0	0	0	1	0	0	0	12573	449	16	3	2473	3	PRPF4B	6	4053072	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	20180	4053072	167061995	3036	26987											
CDYL	9425	broad.mit.edu	37	chr6	4892095	4892095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccacgacttcaacagacGccacacggagaagcagaagg	10	13	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:4892095G>A	uc003mwi.2	+	4	466	c.335G>A	c.(334-336)CGC>CAC	p.R112H	CDYL_uc003mwj.2_Missense_Mutation_p.R58H|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_5'UTR|CDYL_uc011dhy.1_5'UTR	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	112	Chromo.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TTCAACAGACGCCACACGGAG	0.502													A	4892095	G	A	4892095	3	1	27	1	0	0	0	0	1	0	0	0	3185	1087	38	1	179	1	CDYL	6	4892095	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	839023	4892095	166222972	3037	26988											
FARS2	10667	broad.mit.edu	37	chr6	5613496	5613496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctatgacttagtccgaaCaattggaggagacctggtgg	12	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:5613496C>T	uc010jnv.1	+	6	1496	c.1160C>T	c.(1159-1161)ACA>ATA	p.T387I	FARS2_uc003mwr.2_Missense_Mutation_p.T387I	NM_006567	NP_006558	O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2 precursor	387	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	TTAGTCCGAACAATTGGAGGA	0.393													T	5613496	C	T	5613496	3	4	27	1	0	0	0	0	1	0	0	0	5678	478	17	4	1178	4	FARS2	6	5613496	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	721401	5613496	165501571	3038	26989											
CAGE1	285782	broad.mit.edu	37	chr6	7374252	7374252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgcctgccgaagaccaaGttgagacaatttctggcctc	9	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:7374252G>A	uc003mxi.2	-	4	1113	c.392C>T	c.(391-393)ACT>ATT	p.T131I	CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.T22I|CAGE1_uc003mxk.1_Missense_Mutation_p.T22I	NM_205864	NP_995586	Q8TC20	CAGE1_HUMAN	cancer antigen 1	267											0	Ovarian(93;0.0418)					CGAAGACCAAGTTGAGACAAT	0.468													A	7374252	G	A	7374252	3	1	27	1	0	0	0	0	1	0	0	0	2572	1029	36	4	1865	4	CAGE1	6	7374252	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1760756	7374252	163740815	3039	26990											
DSP	1832	broad.mit.edu	37	chr6	7571730	7571730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttggagatgatgacaagCggaaaatacagtctcagttc	11	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:7571730C>T	uc003mxp.1	+	14	2095	c.1816C>T	c.(1816-1818)CGG>TGG	p.R606W	DSP_uc003mxq.1_Missense_Mutation_p.R606W	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	606	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGATGACAAGCGGAAAATACA	0.498													T	7571730	C	T	7571730	3	4	27	1	0	0	0	0	1	0	0	0	4781	759	27	1	1870	1	DSP	6	7571730	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	197478	7571730	163543337	3040	26991											
DSP	1832	broad.mit.edu	37	chr6	7580889	7580889	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatagaaaggttaaaacaacTgatcgacaaagaaacaaatg	8	5	0	3	rs143380327		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:7580889T>C	uc003mxp.1	+	23	4745	c.4466T>C	c.(4465-4467)CTG>CCG	p.L1489P	DSP_uc003mxq.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1489	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTAAAACAACTGATCGACAAA	0.428													C	7580889	T	C	7580889	3	2	27	1	0	0	0	0	1	0	0	0	4781	1580	55	3	4556	3	DSP	6	7580889	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9159	7580889	163534178	3041	26992											
DSP	1832	broad.mit.edu	37	chr6	7584584	7584584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactcatcgaaaagggccaCggtattcgcttattagaagc	10	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:7584584C>T	uc003mxp.1	+	24	7368	c.7089C>T	c.(7087-7089)CAC>CAT	p.H2363H	DSP_uc003mxq.1_Silent_p.H1764H	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2363	Plectin 9.|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAAGGGCCACGGTATTCGCT	0.458													T	7584584	C	T	7584584	2	4	27	1	0	0	0	0	0	0	0	1	4781	535	19	1		1	DSP	6	7584584	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3695	7584584	163530483	3042	26993											
SNRNP48	154007	broad.mit.edu	37	chr6	7601735	7601735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagcgatctctttgtagaCttggctgccaaaatcaatca	8	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:7601735C>A	uc003mxr.2	+	5	632	c.573C>A	c.(571-573)GAC>GAA	p.D191E	SNRNP48_uc003mxs.2_RNA	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	U11/U12 snRNP 48K	191					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding				0						TCTTTGTAGACTTGGCTGCCA	0.348													A	7601735	C	A	7601735	3	1	27	1	0	0	0	0	1	0	0	0	14857	564	20	5	591	5	SNRNP48	6	7601735	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	17151	7601735	163513332	3043	26994											
SLC35B3	51000	broad.mit.edu	37	chr6	8428191	8428191	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctccttttgtcctgaataAgctgaagttctattaggcca	7	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:8428191A>G	uc010joe.2	-	4	564	c.398T>C	c.(397-399)CTT>CCT	p.L133P	SLC35B3_uc003mya.2_Missense_Mutation_p.L101P|SLC35B3_uc003myc.2_RNA|SLC35B3_uc003myb.2_Missense_Mutation_p.L133P|SLC35B3_uc011did.1_Missense_Mutation_p.L133P|SLC35B3_uc003myd.2_RNA	NM_001142541	NP_001136013	Q9H1N7	S35B3_HUMAN	solute carrier family 35, member B3	133	Helical; (Potential).				transmembrane transport	Golgi membrane|integral to membrane					0	Ovarian(93;0.0569)					GTCCTGAATAAGCTGAAGTTC	0.328													G	8428191	A	G	8428191	3	3	27	1	0	0	0	0	1	0	0	0	14577	72	3	3	839	3	SLC35B3	6	8428191	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	826456	8428191	162686876	3044	26995											
PAK1IP1	55003	broad.mit.edu	37	chr6	10709645	10709645	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatggtagaaatgttggAaaagaagaggaaaaagaaga	13	0	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:10709645A>G	uc003mzg.2	+	10	1170	c.1139A>G	c.(1138-1140)GAA>GGA	p.E380G		NM_017906	NP_060376	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	380					negative regulation of signal transduction	nucleolus|plasma membrane					0	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				GAAATGTTGGAAAAGAAGAGG	0.353													G	10709645	A	G	10709645	3	3	27	1	0	0	0	0	1	0	0	0	11400	246	9	3	1177	3	PAK1IP1	6	10709645	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2281454	10709645	160405422	3045	26996											
MAK	4117	broad.mit.edu	37	chr6	10796316	10796316	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggaggttgctggacgctcAggttctgtggcggctgaatg	17	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:10796316A>G	uc003mzl.2	-	8	1287	c.1058T>C	c.(1057-1059)CTG>CCG	p.L353P	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.L353P|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	353	Glu/Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				CTGGACGCTCAGGTTCTGTGG	0.537													G	10796316	A	G	10796316	3	3	27	1	0	0	0	0	1	0	0	0	9197	188	7	3	837	3	MAK	6	10796316	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	86671	10796316	160318751	3046	26997											
MAK	4117	broad.mit.edu	37	chr6	10802142	10802142	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctggcttgctgtcggtcGtttctttggatcccaattca	9	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:10802142G>A	uc003mzl.2	-	7	1043	c.814C>T	c.(814-816)CGA>TGA	p.R272*	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Nonsense_Mutation_p.R272*|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	272	Protein kinase.		R -> P (in a breast infiltrating ductal carcinoma sample; somatic mutation).		cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	p.R272P(2)		breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				GCTGTCGGTCGTTTCTTTGGA	0.393											OREG0017187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	10802142	G	A	10802142	4	1	27	1	0	0	0	0	0	1	0	0	9197	1153	40	1	1085	1	MAK	6	10802142	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5826	10802142	160312925	3047	26998											
ELOVL2	54898	broad.mit.edu	37	chr6	10989995	10989995	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catataagatgactggaagaTgagacaaccgaaggggaagc	13	6	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:10989995T>C	uc003mzp.3	-	7	867	c.706A>G	c.(706-708)ATC>GTC	p.I236V		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	elongation of very long chain fatty acids-like	236	Helical; (Potential).				fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GACTGGAAGATGAGACAACCG	0.473													C	10989995	T	C	10989995	3	2	27	1	0	0	0	0	1	0	0	0	5074	1464	51	3	192	3	ELOVL2	6	10989995	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	187853	10989995	160125072	3048	26999											
NEDD9	4739	broad.mit.edu	37	chr6	11191156	11191156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcgggggacatcatatgCgtcgttctgagagcccactg	13	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:11191156C>T	uc003mzv.2	-	5	1113	c.946G>A	c.(946-948)GCA>ACA	p.A316T	NEDD9_uc010joz.2_Missense_Mutation_p.A316T|NEDD9_uc003mzw.3_Missense_Mutation_p.A170T	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	316					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			ACATCATATGCGTCGTTCTGA	0.572													T	11191156	C	T	11191156	3	4	27	1	0	0	0	0	1	0	0	0	10313	768	27	1	1570	1	NEDD9	6	11191156	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	201161	11191156	159923911	3049	27000											
TMEM170B	100113407	broad.mit.edu	37	chr6	11565992	11565992	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtgatgctgcagaggcAtaggcagggaagagtcatct	15	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:11565992A>T	uc010jpa.2	+	2	191	c.191A>T	c.(190-192)CAT>CTT	p.H64L		NM_001100829	NP_001094299	Q5T4T1	T170B_HUMAN	transmembrane protein 170B	64	Cytoplasmic (Potential).					integral to membrane					0						CTGCAGAGGCATAGGCAGGGA	0.463													T	11565992	A	T	11565992	3	4	27	1	0	0	0	0	1	0	0	0	16084	217	8	5	197	5	TMEM170B	6	11565992	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	374836	11565992	159549075	3050	27001											
SIRT5	23408	broad.mit.edu	37	chr6	13588569	13588569	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcactctgtttaggtatggCagattttcgaaagttttttg	9	5	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:13588569C>G	uc003nay.2	+	4	418	c.122C>G	c.(121-123)GCA>GGA	p.A41G	SIRT5_uc003naw.2_Missense_Mutation_p.A41G|SIRT5_uc003nax.2_Intron|SIRT5_uc011dit.1_Missense_Mutation_p.A41G	NM_012241	NP_036373	Q9NXA8	SIRT5_HUMAN	sirtuin 5 isoform 1	41	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			skin(2)|upper_aerodigestive_tract(1)	3	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	TTAGGTATGGCAGATTTTCGA	0.403													G	13588569	C	G	13588569	3	3	27	1	0	0	0	0	1	0	0	0	14341	710	25	5	128	5	SIRT5	6	13588569	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2022577	13588569	157526498	3051	27002											
RANBP9	10048	broad.mit.edu	37	chr6	13634706	13634706	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcgtggtcatgtttagaGctaccatttaggaaaccatt	8	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:13634706G>A	uc003nbb.2	-	11	1811	c.1752C>T	c.(1750-1752)AGC>AGT	p.S584S	RANBP9_uc003nba.2_Silent_p.S243S	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	RAN binding protein 9	584					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			lung(1)|skin(1)	2	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			CATGTTTAGAGCTACCATTTA	0.358													A	13634706	G	A	13634706	2	1	27	1	0	0	0	0	0	0	0	1	13032	962	34	2		2	RANBP9	6	13634706	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	46137	13634706	157480361	3052	27003											
CCDC90A	63933	broad.mit.edu	37	chr6	13792125	13792125	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacctgctaaatatttaaTattatcaagcttgtgtgact	5	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:13792125T>C	uc003nbd.2	-	8	1137	c.1009A>G	c.(1009-1011)ATT>GTT	p.I337V	uc003nbc.1_5'Flank|CCDC90A_uc010jpf.2_RNA	NM_001031713	NP_001026883	Q96AQ8	CC90A_HUMAN	coiled-coil domain containing 90A precursor	337						integral to membrane|mitochondrion					0	Breast(50;0.0027)|Ovarian(93;0.0964)	all_hematologic(90;0.117)				AAATATTTAATATTATCAAGC	0.348													C	13792125	T	C	13792125	3	2	27	1	0	0	0	0	1	0	0	0	2868	1406	49	3	78	3	CCDC90A	6	13792125	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	157419	13792125	157322942	3053	27004											
CCDC90A	63933	broad.mit.edu	37	chr6	13802559	13802559	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgcagacacaatgatttcTgcttgttgagtagcaaaccc	8	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:13802559T>C	uc003nbd.2	-	3	683	c.555A>G	c.(553-555)GCA>GCG	p.A185A	CCDC90A_uc010jpf.2_RNA	NM_001031713	NP_001026883	Q96AQ8	CC90A_HUMAN	coiled-coil domain containing 90A precursor	185						integral to membrane|mitochondrion					0	Breast(50;0.0027)|Ovarian(93;0.0964)	all_hematologic(90;0.117)				CAATGATTTCTGCTTGTTGAG	0.443													C	13802559	T	C	13802559	2	2	27	1	0	0	0	0	0	0	0	1	2868	1567	55	3		3	CCDC90A	6	13802559	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	10434	13802559	157312508	3054	27005											
JARID2	3720	broad.mit.edu	37	chr6	15496636	15496636	+	Frame_Shift_Del	DEL	G	G	-													gcaaacaggtgctatccctcGggggggcgtccaagtccact							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:15496635_15496635CG>C	uc003nbj.3	+	6	1423	c.1179_1179CG>C	c.(1177-1179)ctcfs	p.L393fs	JARID2_uc011diu.1_Frame_Shift_Del_p.L257fs|JARID2_uc011div.2_Frame_Shift_Del_p.L221fs|JARID2_uc011diw.1_Frame_Shift_Del_p.L355fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	393					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	p.L393L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGCTATCCCTCGGGGGGGCGT	0.577													-	15496636	G	-	15496636	7	5	27	1	0	1	0	1	0	0	0	0	7945	1116	39	0	1206	0	JARID2	6	15496636	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	1694077	15496636	155618431	3055	27006											
JARID2	3720	broad.mit.edu	37	chr6	15496890	15496890	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaaggccccggccgagagAggtctgctgaacggacacgt	15	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:15496890A>G	uc003nbj.2	+	7	1678	c.1434A>G	c.(1432-1434)AGA>AGG	p.R478R	JARID2_uc011diu.1_Silent_p.R342R|JARID2_uc011div.1_Silent_p.R306R|JARID2_uc011diw.1_Silent_p.R440R	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	478					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CGGCCGAGAGAGGTCTGCTGA	0.677													G	15496890	A	G	15496890	2	3	27	1	0	0	0	0	0	0	0	1	7945	301	11	3		3	JARID2	6	15496890	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	254	15496890	155618177	3056	27007											
JARID2	3720	broad.mit.edu	37	chr6	15501302	15501302	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaggcctactgccagTacctactctcctacgactcc	8	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:15501302T>C	uc003nbj.2	+	8	2354	c.2110T>C	c.(2110-2112)TAC>CAC	p.Y704H	JARID2_uc011div.1_Missense_Mutation_p.Y532H|JARID2_uc011diw.1_Missense_Mutation_p.Y666H	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	704	ARID.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CTACTGCCAGTACCTACTCTC	0.597													C	15501302	T	C	15501302	3	2	27	1	0	0	0	0	1	0	0	0	7945	1638	57	3	2140	3	JARID2	6	15501302	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4412	15501302	155613765	3057	27008											
JARID2	3720	broad.mit.edu	37	chr6	15512570	15512570	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtacagcgtgtctgaaacCgtgcactttgctaccaccca	10	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:15512570C>T	uc003nbj.2	+	14	3328	c.3084C>T	c.(3082-3084)ACC>ACT	p.T1028T	JARID2_uc011div.1_Silent_p.T856T	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	1028	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGTCTGAAACCGTGCACTTTG	0.597													T	15512570	C	T	15512570	2	4	27	1	0	0	0	0	0	0	0	1	7945	639	23	1		1	JARID2	6	15512570	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	11268	15512570	155602497	3058	27009											
DTNBP1	84062	broad.mit.edu	37	chr6	15523311	15523311	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctcatcggactgaacaacGggggactccccaccctcact	8	17	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:15523311G>T	uc003nbm.2	-	10	1122	c.951C>A	c.(949-951)CCC>CCA	p.P317P	DTNBP1_uc003nbl.2_Silent_p.P236P|DTNBP1_uc003nbn.2_RNA|DTNBP1_uc003nbo.2_RNA	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1 isoform a	317	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding				0	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			ACTGAACAACGGGGGACTCCC	0.587									Hermansky-Pudlak_syndrome				T	15523311	G	T	15523311	2	4	27	1	0	0	0	0	0	0	0	1	4790	1103	39	5		5	DTNBP1	6	15523311	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	10741	15523311	155591756	3059	27010											
DTNBP1	84062	broad.mit.edu	37	chr6	15638038	15638038	+	Splice_Site	DEL	A	A	-													gcccatgtatcctcatacctAaaaaaaagcaaaaaataatt					rs140124163		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:15638037_15638037TA>T	uc003nbm.3	-	4	351	c.162_splice	c.e4-1	p.R54_splice	DTNBP1_uc003nbl.3_Splice_Site|DTNBP1_uc010jph.3_Splice_Site_p.R41_splice|DTNBP1_uc003nbp.3_Splice_Site_p.R54_splice	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	54					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TCCTCATACCTAAAAAAAAGC	0.363									Hermansky-Pudlak syndrome				-	15638038	A	-	15638038	8	5	27	1	0	1	0	1	0	0	1	0	4790	377	13	0		0	DTNBP1	6	15638038	Splice_Site	DEL	A	TCGA-BR-6452-01A-12D-1800-08	114727	15638038	155477029	3060	27011											
ATXN1	6310	broad.mit.edu	37	chr6	16307007	16307007	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacacggcaaatcaaagagCtggctggttctctccggaca	11	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:16307007C>T	uc003nbt.2	-	9	2972	c.2001G>A	c.(1999-2001)CAG>CAA	p.Q667Q	ATXN1_uc010jpi.2_Silent_p.Q667Q|ATXN1_uc010jpj.1_RNA	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	667	Interaction with USP7.|RNA-binding.|AXH.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				AATCAAAGAGCTGGCTGGTTC	0.507													T	16307007	C	T	16307007	2	4	27	1	0	0	0	0	0	0	0	1	1209	796	28	2		2	ATXN1	6	16307007	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	668969	16307007	154808060	3061	27012											
RBM24	221662	broad.mit.edu	37	chr6	17292149	17292149	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgctgccgccgccgcTgctgcctatgaccagtaccc	11	18	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:17292149T>C	uc003nbz.3	+	4	514	c.510T>C	c.(508-510)GCT>GCC	p.A170A	RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Silent_p.A112A|RBM24_uc003nca.2_Silent_p.A125A|RBM24_uc011diy.1_Missense_Mutation_p.L84P|RBM24_uc011diz.1_Missense_Mutation_p.L69P	NM_001143942	NP_001137414	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24 isoform 1	170	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			ovary(1)|skin(1)	2	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			ccgccgccgctgctgcCTATG	0.488													C	17292149	T	C	17292149	2	2	27	1	0	0	0	0	0	0	0	1	13124	1567	55	3		3	RBM24	6	17292149	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	985142	17292149	153822918	3062	27013											
NUP153	9972	broad.mit.edu	37	chr6	17624851	17624852	+	Frame_Shift_Ins	INS	-	-	G													aggttgctgtccaaacacagINSggggctggctactgcttgac							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:17624850_17624851A>AG	uc003ncd.1	-	19	4315_4316	c.4115_4116T>CT	c.(4114-4116)cctfs	p.P1372fs	NUP153_uc011dje.1_Frame_Shift_Ins_p.P1403fs|NUP153_uc010jpl.1_Frame_Shift_Ins_p.P1330fs	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	1372					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTCCAAACACAGGGGGCTGGCT	0.47													G	17624852	-	G	17624851	7	5	27	1	0	1	1	0	0	0	0	0	10755	1000	35	0	324	0	NUP153	6	17624851	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	332702	17624851	153490216	3063	27014											
NUP153	9972	broad.mit.edu	37	chr6	17626268	17626268	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgtccaaacacaaaggtAgccacaggtggattggagga	13	8	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:17626268A>G	uc003ncd.1	-	19	3872	c.3672T>C	c.(3670-3672)GCT>GCC	p.A1224A	NUP153_uc011dje.1_Silent_p.A1255A|NUP153_uc010jpl.1_Silent_p.A1182A	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	1224					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ACACAAAGGTAGCCACAGGTG	0.473													G	17626268	A	G	17626268	2	3	27	1	0	0	0	0	0	0	0	1	10755	407	15	3		3	NUP153	6	17626268	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1417	17626268	153488799	3064	27015											
NUP153	9972	broad.mit.edu	37	chr6	17632925	17632925	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttgcactttcacatgccAaacatttggtagagtctgcc	8	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:17632925A>G	uc003ncd.1	-	17	2815	c.2615T>C	c.(2614-2616)TTG>TCG	p.L872S	NUP153_uc011dje.1_Missense_Mutation_p.L903S|NUP153_uc010jpl.1_Missense_Mutation_p.L830S	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	872	RanBP2-type 4.				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TTCACATGCCAAACATTTGGT	0.433													G	17632925	A	G	17632925	3	3	27	1	0	0	0	0	1	0	0	0	10755	131	5	3	1836	3	NUP153	6	17632925	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	6657	17632925	153482142	3065	27016											
NUP153	9972	broad.mit.edu	37	chr6	17637492	17637492	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttttgaatttatctccaaAtcctaaggtaccagtggtta	6	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:17637492A>C	uc003ncd.1	-	16	2556	c.2356T>G	c.(2356-2358)TTT>GTT	p.F786V	NUP153_uc011dje.1_Missense_Mutation_p.F817V|NUP153_uc010jpl.1_Missense_Mutation_p.F744V	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	786					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TTATCTCCAAATCCTAAGGTA	0.433													C	17637492	A	C	17637492	3	2	27	1	0	0	0	0	1	0	0	0	10755	101	4	5	2099	5	NUP153	6	17637492	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4567	17637492	153477575	3066	27017											
NUP153	9972	broad.mit.edu	37	chr6	17637537	17637537	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggaagatgaagcagTcatagtctcagcactttccg	11	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:17637537T>A	uc003ncd.1	-	16	2511	c.2311A>T	c.(2311-2313)ACT>TCT	p.T771S	NUP153_uc011dje.1_Missense_Mutation_p.T802S|NUP153_uc010jpl.1_Missense_Mutation_p.T729S	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	771					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GATGAAGCAGTCATAGTCTCA	0.448													A	17637537	T	A	17637537	3	1	27	1	0	0	0	0	1	0	0	0	10755	1667	58	5	2144	5	NUP153	6	17637537	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	45	17637537	153477530	3067	27018											
KIF13A	63971	broad.mit.edu	37	chr6	17764724	17764724	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgctctgggatgatgggcTccctttggctaaggcactgt	14	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:17764724T>C	uc003ncg.3	-	39	5140	c.5035A>G	c.(5035-5037)AGC>GGC	p.S1679G	KIF13A_uc003ncf.2_Missense_Mutation_p.S1631G|KIF13A_uc003nch.3_Missense_Mutation_p.S1644G|KIF13A_uc003nci.3_Missense_Mutation_p.S1631G|KIF13A_uc003nce.1_Missense_Mutation_p.S230G	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1679					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GATGATGGGCTCCCTTTGGCT	0.488													C	17764724	T	C	17764724	3	2	27	1	0	0	0	0	1	0	0	0	8274	1551	54	3	411	3	KIF13A	6	17764724	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	127187	17764724	153350343	3068	27019											
NHLRC1	378884	broad.mit.edu	37	chr6	18122018	18122018	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggaccgcaatggcccCggtgagccaagacactgcca	11	16	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:18122018C>A	uc003ncl.1	-	1	834	c.820G>T	c.(820-822)GGG>TGG	p.G274W		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	274	NHL 4.				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GCAATGGCCCCGGTGAGCCAA	0.607													A	18122018	C	A	18122018	3	1	27	1	0	0	0	0	1	0	0	0	10405	652	23	5	371	5	NHLRC1	6	18122018	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	357294	18122018	152993049	3069	27020											
NHLRC1	378884	broad.mit.edu	37	chr6	18122144	18122144	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaccctgcctccgcatcagTtaccacaatcccattctgag	7	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:18122144T>C	uc003ncl.1	-	1	708	c.694A>G	c.(694-696)ACT>GCT	p.T232A		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	232	NHL 3.				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			TCCGCATCAGTTACCACAATC	0.537													C	18122144	T	C	18122144	3	2	27	1	0	0	0	0	1	0	0	0	10405	1725	60	3	497	3	NHLRC1	6	18122144	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	126	18122144	152992923	3070	27021											
KDM1B	221656	broad.mit.edu	37	chr6	18217973	18217973	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attggacataggaggtcccaGatcccacaaagtattttgtc	9	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:18217973G>A	uc003nco.1	+	14	1708	c.1633G>A	c.(1633-1635)GAT>AAT	p.D545N	KDM1B_uc003ncn.1_Missense_Mutation_p.D516N|KDM1B_uc003ncp.1_Missense_Mutation_p.D101N|KDM1B_uc003ncq.1_Missense_Mutation_p.D101N	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	amine oxidase (flavin containing) domain 1	748					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			skin(1)	1						GGAGGTCCCAGATCCCACAAA	0.368													A	18217973	G	A	18217973	3	1	27	1	0	0	0	0	1	0	0	0	8123	942	33	4	1604	4	KDM1B	6	18217973	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	95829	18217973	152897094	3071	27022											
RNF144B	255488	broad.mit.edu	37	chr6	18465249	18465249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtataatctgttgtgtctGcaagtcctgtcggggcaaga	12	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:18465249G>A	uc003ncs.2	+	8	1167	c.863G>A	c.(862-864)TGC>TAC	p.C288Y		NM_182757	NP_877434	Q7Z419	R144B_HUMAN	IBR domain containing 2	288					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			TGTTGTGTCTGCAAGTCCTGT	0.488													A	18465249	G	A	18465249	3	1	27	1	0	0	0	0	1	0	0	0	13446	1319	46	2	889	2	RNF144B	6	18465249	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	247276	18465249	152649818	3072	27023											
E2F3	1871	broad.mit.edu	37	chr6	20483131	20483131	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggacctcaaactgttaacCgaggattcagagaatcaaag	9	9	3	1	rs139915140		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:20483131C>T	uc003nda.2	+	4	1191	c.864C>T	c.(862-864)ACC>ACT	p.T288T	E2F3_uc003ncz.2_Silent_p.T282T	NM_001949	NP_001940	O00716	E2F3_HUMAN	E2F transcription factor 3	288	Dimerization (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			AACTGTTAACCGAGGATTCAG	0.453													T	20483131	C	T	20483131	2	4	27	1	0	0	0	0	0	0	0	1	4868	639	23	1		1	E2F3	6	20483131	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2017882	20483131	150631936	3073	27024											
E2F3	1871	broad.mit.edu	37	chr6	20490487	20490487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccagccaacctcttacaGcagactgaggaccaaattcc	6	16	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:20490487G>A	uc003nda.2	+	7	1551	c.1224G>A	c.(1222-1224)CAG>CAA	p.Q408Q		NM_001949	NP_001940	O00716	E2F3_HUMAN	E2F transcription factor 3	408	Transactivation (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ACCTCTTACAGCAGACTGAGG	0.512													A	20490487	G	A	20490487	2	1	27	1	0	0	0	0	0	0	0	1	4868	962	34	2		2	E2F3	6	20490487	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	7356	20490487	150624580	3074	27025											
DCDC2	51473	broad.mit.edu	37	chr6	24178686	24178686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatttacacgagcagggcGtgcctgctgctcactgtgat	11	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:24178686G>A	uc003ndx.2	-	9	1500	c.1198C>T	c.(1198-1200)CGC>TGC	p.R400C	DCDC2_uc003ndy.2_Missense_Mutation_p.R400C|DCDC2_uc003ndw.2_Missense_Mutation_p.R151C	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	400					cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)				CGAGCAGGGCGTGCCTGCTGC	0.517													A	24178686	G	A	24178686	3	1	27	1	0	0	0	0	1	0	0	0	4285	1145	40	1	240	1	DCDC2	6	24178686	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3688199	24178686	146936381	3075	27026											
DCDC2	51473	broad.mit.edu	37	chr6	24178771	24178771	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccttcctcttcaaggtcAccattcattcctgaaaagtc	4	15	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:24178771A>G	uc003ndx.2	-	9	1415	c.1113T>C	c.(1111-1113)GGT>GGC	p.G371G	DCDC2_uc003ndy.2_Silent_p.G371G|DCDC2_uc003ndw.2_Silent_p.G122G	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	371					cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)				CTTCAAGGTCACCATTCATTC	0.502													G	24178771	A	G	24178771	2	3	27	1	0	0	0	0	0	0	0	1	4285	146	6	3		3	DCDC2	6	24178771	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	85	24178771	146936296	3076	27027											
GPLD1	2822	broad.mit.edu	37	chr6	24436855	24436855	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatttgccagtcatgtcAccaagggtggtctctttgcc	10	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:24436855A>G	uc003ned.1	-	22	2418	c.2307T>C	c.(2305-2307)GGT>GGC	p.G769G		NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	769	FG-GAP 6.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						CAGTCATGTCACCAAGGGTGG	0.433													G	24436855	A	G	24436855	2	3	27	1	0	0	0	0	0	0	0	1	6614	146	6	3		3	GPLD1	6	24436855	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	258084	24436855	146678212	3077	27028											
GPLD1	2822	broad.mit.edu	37	chr6	24463015	24463015	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagagggttctcaggcaggTtgcagtcactgaggaaacag	14	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:24463015T>C	uc003ned.1	-	11	941	c.830A>G	c.(829-831)AAC>AGC	p.N277S	GPLD1_uc010jpr.1_Missense_Mutation_p.N114S|GPLD1_uc010jps.1_Missense_Mutation_p.N277S	NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	277						extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						CTCAGGCAGGTTGCAGTCACT	0.448													C	24463015	T	C	24463015	3	2	27	1	0	0	0	0	1	0	0	0	6614	1725	60	3	1752	3	GPLD1	6	24463015	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	26160	24463015	146652052	3078	27029											
FAM65B	9750	broad.mit.edu	37	chr6	24850864	24850864	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actatcaggggcagaaaaacTgtttcttctccatcccagct	7	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:24850864T>C	uc003neo.1	-	10	935	c.759A>G	c.(757-759)ACA>ACG	p.T253T	FAM65B_uc011djs.1_Silent_p.T282T|FAM65B_uc011dju.1_Silent_p.T287T|FAM65B_uc003nep.2_Silent_p.T253T|FAM65B_uc011djt.1_Silent_p.T253T	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1	253					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1						GCAGAAAAACTGTTTCTTCTC	0.478													C	24850864	T	C	24850864	2	2	27	1	0	0	0	0	0	0	0	1	5600	1567	55	3		3	FAM65B	6	24850864	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	387849	24850864	146264203	3079	27030											
LRRC16A	55604	broad.mit.edu	37	chr6	25600765	25600765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaaggacacaaaggccgccGagcacaatggcaattctgaa	12	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:25600765G>A	uc011djw.1	+	33	3719	c.3343G>A	c.(3343-3345)GAG>AAG	p.E1115K	LRRC16A_uc010jpx.2_Missense_Mutation_p.E1115K|LRRC16A_uc010jpy.2_Missense_Mutation_p.E1115K	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1115					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						AAAGGCCGCCGAGCACAATGG	0.517													A	25600765	G	A	25600765	3	1	27	1	0	0	0	0	1	0	0	0	8971	1059	37	1	3473	1	LRRC16A	6	25600765	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	749901	25600765	145514302	3080	27031											
HIST1H2AA	221613	broad.mit.edu	37	chr6	25726369	25726369	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaccttaagttacttgctTtgggctttatggtggtgact	10	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:25726369T>C	uc003nfc.2	-	1	422	c.387A>G	c.(385-387)CAA>CAG	p.Q129Q	HIST1H2BA_uc003nfd.2_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	129					nucleosome assembly	nucleosome|nucleus	DNA binding				0						GTTACTTGCTTTGGGCTTTAT	0.488													C	25726369	T	C	25726369	2	2	27	1	0	0	0	0	0	0	0	1	7128	1838	64	3		3	HIST1H2AA	6	25726369	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	125604	25726369	145388698	3081	27032											
SLC17A1	6568	broad.mit.edu	37	chr6	25819947	25819947	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcgacatacaacgaccCaagctactccaattccagct	5	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:25819947C>T	uc003nfh.3	-	4	520	c.404G>A	c.(403-405)TGG>TAG	p.W135*	SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Nonsense_Mutation_p.W133*|SLC17A1_uc010jqc.1_Nonsense_Mutation_p.W133*	NM_005074	NP_005065	Q14916	NPT1_HUMAN	solute carrier family 17 (sodium phosphate),	135	Helical; (Potential).				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(3)|pancreas(1)	4						TACAACGACCCAAGCTACTCC	0.408													T	25819947	C	T	25819947	4	4	27	1	0	0	0	0	0	1	0	0	14416	595	21	4	1035	4	SLC17A1	6	25819947	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	93578	25819947	145295120	3082	27033											
SLC17A2	10246	broad.mit.edu	37	chr6	25921479	25921479	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcagcagccagtggtgtaaaGagggtgagaagggaagagat	17	4	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:25921479G>T	uc011dkb.1	-	3	485	c.402C>A	c.(400-402)CTC>CTA	p.L134L	SLC17A2_uc011dkc.1_Silent_p.L134L|SLC17A2_uc003nfl.2_Silent_p.L134L			O00624	NPT3_HUMAN	SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;	134	Helical; (Potential).				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			ovary(1)	1						GTGGTGTAAAGAGGGTGAGAA	0.468													T	25921479	G	T	25921479	2	4	27	1	0	0	0	0	0	0	0	1	14417	929	33	5		5	SLC17A2	6	25921479	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	101532	25921479	145193588	3083	27034											
TRIM38	10475	broad.mit.edu	37	chr6	25983804	25983804	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtatccttttataacgggaaTactggctgccacatctttac	7	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:25983804T>A	uc003nfm.2	+	8	1722	c.1287T>A	c.(1285-1287)AAT>AAA	p.N429K	TRIM38_uc003nfn.2_Missense_Mutation_p.N411K|TRIM38_uc010jqd.2_Missense_Mutation_p.N65K	NM_006355	NP_006346	O00635	TRI38_HUMAN	tripartite motif-containing 38	429	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding				0						ATAACGGGAATACTGGCTGCC	0.478													A	25983804	T	A	25983804	3	1	27	1	0	0	0	0	1	0	0	0	16509	1403	49	5	1309	5	TRIM38	6	25983804	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	62325	25983804	145131263	3084	27035											
HIST1H4A	8359	broad.mit.edu	37	chr6	26022115	26022115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaacgtgatccgtgacgCtgtcacctatacggagcacg	13	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:26022115C>T	uc003nfq.2	+	1	209	c.209C>T	c.(208-210)GCT>GTT	p.A70V		NM_003538	NP_003529	P62805	H4_HUMAN	histone cluster 1, H4a	70					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0						ATCCGTGACGCTGTCACCTAT	0.602													T	26022115	C	T	26022115	3	4	27	1	0	0	0	0	1	0	0	0	7165	797	28	2	211	2	HIST1H4A	6	26022115	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	38311	26022115	145092952	3085	27036											
HIST1H3C	8352	broad.mit.edu	37	chr6	26045888	26045888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacttcaaaaccgacctgCgtttccagagctctgcggtg	11	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:26045888C>T	uc003nfv.2	+	1	250	c.250C>T	c.(250-252)CGT>TGT	p.R84C	HIST1H2BB_uc003nfu.2_5'Flank	NM_003531	NP_003522	P68431	H31_HUMAN	histone cluster 1, H3c	84					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						AACCGACCTGCGTTTCCAGAG	0.587													T	26045888	C	T	26045888	3	4	27	1	0	0	0	0	1	0	0	0	7157	768	27	1	252	1	HIST1H3C	6	26045888	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	23773	26045888	145069179	3086	27037											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056483	26056483	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcttttttcagagcagccagAgaaactccgctacgctcttt	8	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:26056483A>T	uc003nfw.2	-	1	217	c.174T>A	c.(172-174)TCT>TCA	p.S58S		NM_005319	NP_005310	P16403	H12_HUMAN	histone cluster 1, H1c	58	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)|skin(2)	5						GAGCAGCCAGAGAAACTCCGC	0.567													T	26056483	A	T	26056483	2	4	27	1	0	0	0	0	0	0	0	1	7124	291	11	5		5	HIST1H1C	6	26056483	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	10595	26056483	145058584	3087	27038											
HIST1H2BC	8347	broad.mit.edu	37	chr6	26123956	26123956	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagaattcatgatgcccatGgccttggaagagatgccagt	11	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:26123956G>T	uc003ngk.3	-	1	199	c.177C>A	c.(175-177)GCC>GCA	p.A59A	HIST1H2BC_uc003ngl.2_Silent_p.A59A|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank	NM_003526	NP_003517	P62807	H2B1C_HUMAN	histone cluster 1, H2bc	59					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1						TGATGCCCATGGCCTTGGAAG	0.547													T	26123956	G	T	26123956	2	4	27	1	0	0	0	0	0	0	0	1	7142	1335	47	5		5	HIST1H2BC	6	26123956	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	67473	26123956	144991111	3088	27039											
HIST1H4D	8360	broad.mit.edu	37	chr6	26189068	26189068	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatggctgtgactgtcttGcgtttggcgtgttccgtgta	13	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:26189068G>A	uc003ngu.2	-	1	237	c.237C>T	c.(235-237)CGC>CGT	p.R79R		NM_003539	NP_003530	P62805	H4_HUMAN	histone cluster 1, H4d	79					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.196)				TGACTGTCTTGCGTTTGGCGT	0.532													A	26189068	G	A	26189068	2	1	27	1	0	0	0	0	0	0	0	1	7168	1306	46	2		2	HIST1H4D	6	26189068	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	65112	26189068	144925999	3089	27040											
HIST1H2BF	8343	broad.mit.edu	37	chr6	26200153	26200153	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggccgtcaccaagtacAccagctctaagtaattctaa	6	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:26200153A>T	uc003ngx.2	+	1	367	c.367A>T	c.(367-369)ACC>TCC	p.T123S	HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank	NM_003522	NP_003513	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	123					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0		all_hematologic(11;0.196)				CACCAAGTACACCAGCTCTAA	0.522													T	26200153	A	T	26200153	3	4	27	1	0	0	0	0	1	0	0	0	7145	159	6	5	369	5	HIST1H2BF	6	26200153	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	11085	26200153	144914914	3090	27041											
HIST1H2AE	3012	broad.mit.edu	37	chr6	26217403	26217403	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccgagatcttagagctagcTggcaacgcggctcgcgacaa	13	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:26217403T>A	uc003nha.1	+	1	256	c.201T>A	c.(199-201)GCT>GCA	p.A67A	HIST1H2BG_uc003ngz.2_5'Flank	NM_021052	NP_066390	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	67					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2		all_hematologic(11;0.196)				TAGAGCTAGCTGGCAACGCGG	0.602													A	26217403	T	A	26217403	2	1	27	1	0	0	0	0	0	0	0	1	7132	1567	55	5		5	HIST1H2AE	6	26217403	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	17250	26217403	144897664	3091	27042											
HIST1H1D	3007	broad.mit.edu	37	chr6	26235016	26235016	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctccttagaagctgccActgccttggtgataagctca	10	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:26235016A>G	uc003nhd.2	-	1	201	c.146T>C	c.(145-147)GTG>GCG	p.V49A		NM_005320	NP_005311	P16402	H13_HUMAN	histone cluster 1, H1d	49	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				AGAAGCTGCCACTGCCTTGGT	0.532													G	26235016	A	G	26235016	3	3	27	1	0	0	0	0	1	0	0	0	7125	159	6	3	523	3	HIST1H1D	6	26235016	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	17613	26235016	144880051	3092	27043											
BTN2A2	10385	broad.mit.edu	37	chr6	26384079	26384079	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgctctgcacttctcCctgccagcctccctcctcct	6	21	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:26384079C>A	uc003nhq.2	+	2	116	c.30C>A	c.(28-30)TCC>TCA	p.S10S	BTN2A2_uc011dkf.1_Silent_p.S10S|BTN2A2_uc011dkg.1_Silent_p.S10S|BTN2A2_uc003nhr.2_Silent_p.S10S|BTN2A2_uc011dkh.1_Silent_p.S10S|BTN2A2_uc003nhs.2_Silent_p.S10S|BTN2A2_uc003nht.2_Silent_p.S10S	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	10					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						TGCACTTCTCCCTGCCAGCCT	0.498													A	26384079	C	A	26384079	2	1	27	1	0	0	0	0	0	0	0	1	1561	610	22	5		5	BTN2A2	6	26384079	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	149063	26384079	144730988	3093	27044											
BTN2A2	10385	broad.mit.edu	37	chr6	26393114	26393114	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccccatcttcatctgcccTgcactcacaggagccagtgg	9	16	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:26393114T>C	uc003nhq.2	+	8	1577	c.1491T>C	c.(1489-1491)CCT>CCC	p.P497P	BTN2A2_uc011dkg.1_3'UTR|BTN2A2_uc003nhr.2_Silent_p.P381P|BTN2A2_uc011dkh.1_Silent_p.P287P|BTN2A2_uc003nhs.2_Intron|BTN2A2_uc003nht.2_Silent_p.P497P|BTN2A2_uc011dki.1_3'UTR	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	497	B30.2/SPRY.|Cytoplasmic (Potential).				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						TCATCTGCCCTGCACTCACAG	0.542													C	26393114	T	C	26393114	2	2	27	1	0	0	0	0	0	0	0	1	1561	1567	55	3		3	BTN2A2	6	26393114	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9035	26393114	144721953	3094	27045											
BTN3A1	11119	broad.mit.edu	37	chr6	26405878	26405878	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcatgcctcactcaggTagggaacaattccacgcttg	9	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:26405878T>C	uc003nhv.2	+	2	453	c.85_splice	c.e2+2	p.A29_splice	BTN3A1_uc011dkj.1_Splice_Site_p.A29_splice|BTN3A1_uc011dkk.1_Splice_Site_p.A29_splice|BTN3A1_uc010jqj.2_Splice_Site_p.A29_splice	NM_007048	NP_008979	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1 isoform a						lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						CTCACTCAGGTAGGGAACAAT	0.463													C	26405878	T	C	26405878	5	2	27	1	0	0	0	0	0	0	1	0	1562	1652	57	3	89	3	BTN3A1	6	26405878	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	12764	26405878	144709189	3095	27046											
HIST1H2BM	8342	broad.mit.edu	37	chr6	27782898	27782898	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taacaaggctcagaagaaggAtggaaagaagcgcaaacgca	12	7	1	3	rs147325799		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:27782898A>T	uc003njo.2	+	1	77	c.77A>T	c.(76-78)GAT>GTT	p.D26V	HIST1H2AJ_uc003njn.1_5'Flank	NM_003521	NP_003512	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	26					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(1)	1						CAGAAGAAGGATGGAAAGAAG	0.493													T	27782898	A	T	27782898	3	4	27	1	0	0	0	0	1	0	0	0	7152	333	12	5	79	5	HIST1H2BM	6	27782898	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1377020	27782898	143332169	3096	27047											
HIST1H1B	3009	broad.mit.edu	37	chr6	27834982	27834982	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccgccttcttgttgagtTtaaaggagccagaagcacca	11	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:27834982T>C	uc003njx.2	-	1	378	c.326A>G	c.(325-327)AAA>AGA	p.K109R		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	109	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						CTTGTTGAGTTTAAAGGAGCC	0.597													C	27834982	T	C	27834982	3	2	27	1	0	0	0	0	1	0	0	0	7123	1841	64	3	358	3	HIST1H1B	6	27834982	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	52084	27834982	143280085	3097	27048											
HIST1H1B	3009	broad.mit.edu	37	chr6	27835025	27835025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccttggtctgcaccagggTgcccttgctcaccaagctct	10	16	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:27835025T>C	uc003njx.2	-	1	335	c.283A>G	c.(283-285)ACC>GCC	p.T95A		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	95	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						TGCACCAGGGTGCCCTTGCTC	0.587													C	27835025	T	C	27835025	3	2	27	1	0	0	0	0	1	0	0	0	7123	1696	59	3	401	3	HIST1H1B	6	27835025	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	43	27835025	143280042	3098	27049											
OR2B2	81697	broad.mit.edu	37	chr6	27879120	27879120	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagtaaggtaagtaagcacTgtgtctttagcaaagcttat	9	5	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:27879120T>G	uc011dkw.1	-	1	978	c.978A>C	c.(976-978)ACA>ACC	p.T326T		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B,	326	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AAGTAAGCACTGTGTCTTTAG	0.333													G	27879120	T	G	27879120	2	3	27	1	0	0	0	0	0	0	0	1	10989	1567	55	5		5	OR2B2	6	27879120	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	44095	27879120	143235947	3099	27050											
ZNF165	7718	broad.mit.edu	37	chr6	28056987	28056987	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcacactggggaaagaccCtttggttgcaaagaatgtgg	12	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:28056987C>A	uc003nkg.2	+	5	2281	c.1197C>A	c.(1195-1197)CCC>CCA	p.P399P	ZNF165_uc003nkh.2_Silent_p.P399P|ZNF165_uc003nki.3_Silent_p.P399P|ZSCAN12P1_uc003nkj.3_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	399					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GGGAAAGACCCTTTGGTTGCA	0.443													A	28056987	C	A	28056987	2	1	27	1	0	0	0	0	0	0	0	1	17737	668	24	5		5	ZNF165	6	28056987	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	177867	28056987	143058080	3100	27051											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28212924	28212924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtttttttccctacatgGcttctctgatgttgaacaag	8	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:28212924G>A	uc003nks.1	-	5	1852	c.1608C>T	c.(1606-1608)AGC>AGT	p.S536S	ZKSCAN4_uc011dlb.1_Silent_p.S381S	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	536	C2H2-type 7.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						TCCCTACATGGCTTCTCTGAT	0.438													A	28212924	G	A	28212924	2	1	27	1	0	0	0	0	0	0	0	1	17686	1194	42	2		2	ZKSCAN4	6	28212924	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	155937	28212924	142902143	3101	27052											
PGBD1	84547	broad.mit.edu	37	chr6	28268774	28268774	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgctcaaaagaagttaaaGgtatcatgtttcccagaaaa	7	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:28268774G>T	uc003nky.2	+	7	1513	c.1143G>T	c.(1141-1143)AAG>AAT	p.K381N	PGBD1_uc003nkz.2_Missense_Mutation_p.K381N	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	381					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						AGAAGTTAAAGGTATCATGTT	0.443													T	28268774	G	T	28268774	3	4	27	1	0	0	0	0	1	0	0	0	11780	991	35	5	1165	5	PGBD1	6	28268774	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	55850	28268774	142846293	3102	27053											
ZNF323	64288	broad.mit.edu	37	chr6	28294205	28294205	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcattcatatggttttTcccctgtgtggattcttctg	8	9	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:28294205T>C	uc003nla.2	-	4	1359	c.959A>G	c.(958-960)GAA>GGA	p.E320G	ZNF323_uc003nld.2_Missense_Mutation_p.E320G|ZNF323_uc010jra.2_Missense_Mutation_p.E320G|ZNF323_uc003nlb.2_Missense_Mutation_p.E161G|ZNF323_uc010jrb.2_Missense_Mutation_p.E161G|ZNF323_uc003nlc.2_Missense_Mutation_p.E320G	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN	zinc finger protein 323	320					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						ATATGGTTTTTCCCCTGTGTG	0.502													C	28294205	T	C	28294205	3	2	27	1	0	0	0	0	1	0	0	0	17840	1783	62	3	265	3	ZNF323	6	28294205	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	25431	28294205	142820862	3103	27054											
SCAND3	114821	broad.mit.edu	37	chr6	28554087	28554087	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttctcacctgctgtctaggTtcatcaagctccctctccaa	5	15	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:28554087T>A	uc003nlo.2	-	1	1026	c.408A>T	c.(406-408)GAA>GAT	p.E136D	uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	136					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCTGTCTAGGTTCATCAAGCT	0.512													A	28554087	T	A	28554087	3	1	27	1	0	0	0	0	1	0	0	0	13876	1722	60	5	3585	5	SCAND3	6	28554087	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	259882	28554087	142560980	3104	27055											
OR2J3	442186	broad.mit.edu	37	chr6	29079854	29079854	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccatctgcacacaccaatgTacttcttcctttcaaacctc	2	17	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:29079854T>C	uc011dll.1	+	1	187	c.187T>C	c.(187-189)TAC>CAC	p.Y63H		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J,	63	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CACACCAATGTACTTCTTCCT	0.463													C	29079854	T	C	29079854	3	2	27	1	0	0	0	0	1	0	0	0	11004	1638	57	3	189	3	OR2J3	6	29079854	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	525767	29079854	142035213	3105	27056											
OR11A1	26531	broad.mit.edu	37	chr6	29394945	29394945	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaccagggccacaaccagTccatctaccacaaatccaga	6	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:29394945T>C	uc003nmg.2	-	1	565	c.474A>G	c.(472-474)GGA>GGG	p.G158G		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CCACAACCAGTCCATCTACCA	0.567													C	29394945	T	C	29394945	2	2	27	1	0	0	0	0	0	0	0	1	10924	1654	58	3		3	OR11A1	6	29394945	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	315091	29394945	141720122	3106	27057											
GABBR1	2550	broad.mit.edu	37	chr6	29576503	29576503	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggttgggctgtgagttctGgatataactagggcagaggt	16	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:29576503G>T	uc003nmt.3	-	16	2203	c.1867C>A	c.(1867-1869)CAG>AAG	p.Q623K	GABBR1_uc003nmp.3_Missense_Mutation_p.Q506K|GABBR1_uc003nms.3_Missense_Mutation_p.Q506K|GABBR1_uc003nmu.3_Missense_Mutation_p.Q561K|GABBR1_uc011dlr.1_Missense_Mutation_p.Q446K|GABBR1_uc011dls.1_Silent_p.S572S	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	623	Cytoplasmic (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	TGTGAGTTCTGGATATAACTA	0.557													T	29576503	G	T	29576503	3	4	27	1	0	0	0	0	1	0	0	0	6155	1357	47	5	1050	5	GABBR1	6	29576503	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	181558	29576503	141538564	3107	27058											
ZFP57	346171	broad.mit.edu	37	chr6	29643256	29643256	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagctctggcttatgcagaaAgattctggctgatgtgtggg	14	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:29643256A>G	uc011dlw.1	-	3	410	c.259T>C	c.(259-261)TTT>CTT	p.F87L	ZFP57_uc003nnl.3_Missense_Mutation_p.F67L	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	59	KRAB.				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)|skin(2)	5						TTATGCAGAAAGATTCTGGCT	0.488													G	29643256	A	G	29643256	3	3	27	1	0	0	0	0	1	0	0	0	17648	72	3	3	1359	3	ZFP57	6	29643256	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	66753	29643256	141471811	3108	27059											
RNF39	80352	broad.mit.edu	37	chr6	30043021	30043021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccgggcaggtccaggcaGcccatggtggggatgcgccc	16	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:30043021G>A	uc003npe.2	-	1	608	c.546C>T	c.(544-546)GGC>GGT	p.G182G	RNF39_uc003npd.2_Silent_p.G182G	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	ring finger protein 39 isoform 1	182						cytoplasm	zinc ion binding				0						GGTCCAGGCAGCCCATGGTGG	0.716													A	30043021	G	A	30043021	2	1	27	1	0	0	0	0	0	0	0	1	13491	958	34	2		2	RNF39	6	30043021	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	399765	30043021	141072046	3109	27060											
RNF39	80352	broad.mit.edu	37	chr6	30043550	30043550	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagagtctcagtctcgtcAaatctctccaccacatcagg	6	15	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:30043550A>G	uc003npe.2	-	1	79	c.17T>C	c.(16-18)TTG>TCG	p.L6S	RNF39_uc003npd.2_Missense_Mutation_p.L6S	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	ring finger protein 39 isoform 1	6						cytoplasm	zinc ion binding				0						CAGTCTCGTCAAATCTCTCCA	0.557													G	30043550	A	G	30043550	3	3	27	1	0	0	0	0	1	0	0	0	13491	131	5	3	1261	3	RNF39	6	30043550	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	529	30043550	141071517	3110	27061											
GNL1	2794	broad.mit.edu	37	chr6	30514577	30514577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacacatcattccgagccGccttggctgtcttgtaacca	8	13	2	0	rs141407258	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:30514577G>A	uc003nqh.2	-	11	2506	c.1478C>T	c.(1477-1479)GCG>GTG	p.A493V	GNL1_uc011dmi.1_Missense_Mutation_p.A290V|GNL1_uc011dmj.1_Missense_Mutation_p.A491V|GNL1_uc011dmk.1_Missense_Mutation_p.A148V	NM_005275	NP_005266	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	493					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			ovary(3)	3						ATTCCGAGCCGCCTTGGCTGT	0.532													A	30514577	G	A	30514577	3	1	27	1	0	0	0	0	1	0	0	0	6535	1087	38	1	353	1	GNL1	6	30514577	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	471027	30514577	140600490	3111	27062											
GNL1	2794	broad.mit.edu	37	chr6	30523965	30523965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctgcttcacgctgaatgGcttcttcctcggcatggccc	9	15	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:30523965G>A	uc003nqh.2	-	1	1044	c.16C>T	c.(16-18)CCA>TCA	p.P6S	GNL1_uc011dmi.1_5'Flank|GNL1_uc011dmj.1_5'Flank|GNL1_uc011dmk.1_5'UTR|PRR3_uc003nqi.1_5'Flank|PRR3_uc003nqj.1_5'Flank	NM_005275	NP_005266	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	6					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			ovary(3)	3						ACGCTGAATGGCTTCTTCCTC	0.577													A	30523965	G	A	30523965	3	1	27	1	0	0	0	0	1	0	0	0	6535	1203	42	2	1855	2	GNL1	6	30523965	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	9388	30523965	140591102	3112	27063											
PPP1R10	5514	broad.mit.edu	37	chr6	30569986	30569986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccagggccttcatggggacGatggccactgccaccactga	13	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:30569986G>A	uc003nqn.1	-	19	2992	c.2440C>T	c.(2440-2442)CGT>TGT	p.R814C	PPP1R10_uc010jsc.1_Missense_Mutation_p.R468C	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	814	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						TCATGGGGACGATGGCCACTG	0.672													A	30569986	G	A	30569986	3	1	27	1	0	0	0	0	1	0	0	0	12352	1058	37	1	390	1	PPP1R10	6	30569986	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	46021	30569986	140545081	3113	27064											
PPP1R10	5514	broad.mit.edu	37	chr6	30571905	30571905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaaccaggggccgggggCacacccagggcaccttctcc	14	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:30571905C>T	uc003nqn.1	-	14	1940	c.1388G>A	c.(1387-1389)TGC>TAC	p.C463Y	PPP1R10_uc010jsc.1_Missense_Mutation_p.C117Y	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	463	Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						GGGCCGGGGGCACACCCAGGG	0.587													T	30571905	C	T	30571905	3	4	27	1	0	0	0	0	1	0	0	0	12352	710	25	2	1462	2	PPP1R10	6	30571905	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1919	30571905	140543162	3114	27065											
PPP1R10	5514	broad.mit.edu	37	chr6	30572227	30572227	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgcctttccgggtcagTtggttaggatctccaggact	11	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:30572227T>C	uc003nqn.1	-	13	1716	c.1164A>G	c.(1162-1164)CAA>CAG	p.Q388Q	PPP1R10_uc010jsc.1_Silent_p.Q42Q	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	388	Necessary for interaction with PPP1CA (By similarity).|Essential for PPP1CA inhibition (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						TCCGGGTCAGTTGGTTAGGAT	0.493													C	30572227	T	C	30572227	2	2	27	1	0	0	0	0	0	0	0	1	12352	1722	60	3		3	PPP1R10	6	30572227	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	322	30572227	140542840	3115	27066											
MRPS18B	28973	broad.mit.edu	37	chr6	30587523	30587523	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttctcgccccgtctgggcTgactaccgccgcaaccacaa	10	17	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:30587523T>C	uc003nqo.2	+	3	382	c.225T>C	c.(223-225)GCT>GCC	p.A75A	PPP1R10_uc003nqn.1_5'Flank|PPP1R10_uc010jsc.1_5'Flank|MRPS18B_uc011dml.1_Silent_p.A75A|MRPS18B_uc010jsd.1_Silent_p.A75A	NM_014046	NP_054765	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B precursor	75					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			ovary(1)	1						CCGTCTGGGCTGACTACCGCC	0.547													C	30587523	T	C	30587523	2	2	27	1	0	0	0	0	0	0	0	1	9829	1567	55	3		3	MRPS18B	6	30587523	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	15296	30587523	140527544	3116	27067											
DHX16	8449	broad.mit.edu	37	chr6	30630513	30630513	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcaaagcggatgctgtAgccaacctggtcaagggaac	12	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:30630513A>G	uc003nqz.2	-	9	1647	c.1435T>C	c.(1435-1437)TAC>CAC	p.Y479H	DHX16_uc003nqy.2_5'Flank|DHX16_uc011dmo.1_Missense_Mutation_p.Y419H	NM_003587	NP_003578	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	479	Helicase ATP-binding.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(2)|kidney(2)	4						CGGATGCTGTAGCCAACCTGG	0.562													G	30630513	A	G	30630513	3	3	27	1	0	0	0	0	1	0	0	0	4502	420	15	3	1738	3	DHX16	6	30630513	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	42990	30630513	140484554	3117	27068											
MDC1	9656	broad.mit.edu	37	chr6	30671508	30671508	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgtggtggtgaatccaTggtagctaaagacctcttgc	12	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:30671508T>C	uc003nrg.3	-	10	5892	c.5452A>G	c.(5452-5454)ATG>GTG	p.M1818V	MDC1_uc003nrf.3_Missense_Mutation_p.M449V|MDC1_uc011dmp.1_Missense_Mutation_p.M1425V	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1818	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						GGTGAATCCATGGTAGCTAAA	0.517								Other_conserved_DNA_damage_response_genes					C	30671508	T	C	30671508	3	2	27	1	0	0	0	0	1	0	0	0	9403	1464	51	3	841	3	MDC1	6	30671508	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	40995	30671508	140443559	3118	27069											
MDC1	9656	broad.mit.edu	37	chr6	30675399	30675399	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttccacctgactggctcccaGaaggtacgggggctgaggta	14	11	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:30675399G>A	uc003nrg.3	-	8	3397	c.2957C>T	c.(2956-2958)TCT>TTT	p.S986F	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Intron	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	986				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						CTGGCTCCCAGAAGGTACGGG	0.652								Other_conserved_DNA_damage_response_genes					A	30675399	G	A	30675399	3	1	27	1	0	0	0	0	1	0	0	0	9403	942	33	4	3344	4	MDC1	6	30675399	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3891	30675399	140439668	3119	27070											
VARS2	57176	broad.mit.edu	37	chr6	30890980	30890980	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatcctcaatgctttaggggAgaaatttgtgccacagcctg	10	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:30890980A>T	uc003nsc.1	+	23	2917	c.2285A>T	c.(2284-2286)GAG>GTG	p.E762V	VARS2_uc011dmx.1_Missense_Mutation_p.E762V|VARS2_uc011dmy.1_Missense_Mutation_p.E622V|VARS2_uc011dmz.1_Missense_Mutation_p.E792V|VARS2_uc011dna.1_Missense_Mutation_p.E760V|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Missense_Mutation_p.E200V|VARS2_uc010jsg.1_Missense_Mutation_p.E134V|VARS2_uc010jsh.1_5'UTR	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	762					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						GCTTTAGGGGAGAAATTTGTG	0.527													T	30890980	A	T	30890980	3	4	27	1	0	0	0	0	1	0	0	0	17121	304	11	5	2469	5	VARS2	6	30890980	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	215581	30890980	140224087	3120	27071											
CCHCR1	54535	broad.mit.edu	37	chr6	31116476	31116476	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcctgctcctggctctgGgatgtcactttttcctggag	12	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:31116476G>A	uc003nsr.3	-	9	1248	c.1125C>T	c.(1123-1125)TCC>TCT	p.S375S	CCHCR1_uc011dne.1_Silent_p.S375S|CCHCR1_uc003nsq.3_Silent_p.S428S|CCHCR1_uc003nsp.3_Silent_p.S464S|CCHCR1_uc010jsk.1_Silent_p.S375S	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1 isoform	375	Potential.				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			skin(1)	1						CCTGGCTCTGGGATGTCACTT	0.597													A	31116476	G	A	31116476	2	1	27	1	0	0	0	0	0	0	0	1	2877	1219	43	4		4	CCHCR1	6	31116476	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	225496	31116476	139998591	3121	27072											
TCF19	6941	broad.mit.edu	37	chr6	31130321	31130321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccctgcagttgggggcGgggagccctgtgcagctcct	15	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:31130321G>A	uc003nss.2	+	4	1389	c.865G>A	c.(865-867)GGG>AGG	p.G289R	TCF19_uc003nst.2_Missense_Mutation_p.G289R	NM_001077511	NP_001070979	Q9Y242	TCF19_HUMAN	transcription factor 19	289	Pro-rich.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGTTGGGGGCGGGGAGCCCTG	0.617													A	31130321	G	A	31130321	3	1	27	1	0	0	0	0	1	0	0	0	15686	1116	39	1	875	1	TCF19	6	31130321	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	13845	31130321	139984746	3122	27073											
LTA	4049	broad.mit.edu	37	chr6	31540749	31540749	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttcagctgcccagactgcCcgtcagcaccccaagatgca	8	18	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:31540749C>A	uc011dnu.1	+	3	357	c.144C>A	c.(142-144)GCC>GCA	p.A48A	LTA_uc003nue.1_Silent_p.A48A|LTA_uc003nuf.2_RNA|LTA_uc003nuh.2_5'UTR|LTA_uc003nug.2_5'UTR|LTA_uc010jsr.2_RNA|TNF_uc003nui.2_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	lymphotoxin alpha precursor	48					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding				0					Etanercept(DB00005)	CCCAGACTGCCCGTCAGCACC	0.602													A	31540749	C	A	31540749	2	1	27	1	0	0	0	0	0	0	0	1	9068	610	22	5		5	LTA	6	31540749	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	410428	31540749	139574318	3123	27074											
LTA	4049	broad.mit.edu	37	chr6	31541079	31541079	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agaccccagcaagcagaactCactgctctggagagcaaaca	9	13	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:31541079C>T	uc011dnu.1	+	4	440	c.227C>T	c.(226-228)TCA>TTA	p.S76L	LTA_uc003nue.1_Missense_Mutation_p.S76L|LTA_uc003nuf.2_Intron|LTA_uc003nuh.2_Missense_Mutation_p.S23L|LTA_uc003nug.2_Missense_Mutation_p.S23L|LTA_uc010jsr.2_Intron|TNF_uc003nui.2_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	lymphotoxin alpha precursor	76					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding				0					Etanercept(DB00005)	AAGCAGAACTCACTGCTCTGG	0.567													T	31541079	C	T	31541079	3	4	27	1	0	0	0	0	1	0	0	0	9068	838	29	4	237	4	LTA	6	31541079	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	330	31541079	139573988	3124	27075											
BAT2	7916	broad.mit.edu	37	chr6	31593291	31593291	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctgatgagctggagggccCggactccaaacttcatcatg	11	13	2	2	rs144276631		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:31593291C>A	uc003nvb.3	+	7	911	c.662C>A	c.(661-663)CCG>CAG	p.P221Q	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.P221Q|BAT2_uc003nve.2_3'UTR	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	221	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						CTGGAGGGCCCGGACTCCAAA	0.567													A	31593291	C	A	31593291	3	1	27	1	0	0	0	0	1	0	0	0	1319	652	23	5	684	5	BAT2	6	31593291	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	52212	31593291	139521776	3125	27076											
BAT2	7916	broad.mit.edu	37	chr6	31600367	31600367	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcgccgggcagctgccaagtCtcctgatctgtcaaaccaga	10	14	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:31600367C>T	uc003nvb.3	+	16	4166	c.3917C>T	c.(3916-3918)TCT>TTT	p.S1306F	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.S1306F	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1306	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						GCTGCCAAGTCTCCTGATCTG	0.602													T	31600367	C	T	31600367	3	4	27	1	0	0	0	0	1	0	0	0	1319	913	32	4	3975	4	BAT2	6	31600367	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	7076	31600367	139514700	3126	27077											
BAT2	7916	broad.mit.edu	37	chr6	31602965	31602965	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attggcacagaacgatcacaGcgtacagaccgaggcacaga	11	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:31602965G>T	uc003nvb.3	+	22	5466	c.5217G>T	c.(5215-5217)CAG>CAT	p.Q1739H	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.Q1739H	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1739	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						AACGATCACAGCGTACAGACC	0.622													T	31602965	G	T	31602965	3	4	27	1	0	0	0	0	1	0	0	0	1319	962	34	5	5299	5	BAT2	6	31602965	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2598	31602965	139512102	3127	27078											
BAT3	7917	broad.mit.edu	37	chr6	31611972	31611972	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagcctggcacctgctgtcCtgtgggtggcagaagagaca	15	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:31611972C>A	uc003nvg.3	-	12	1780	c.1466_splice	c.e12-1	p.G489_splice	BAT3_uc003nvf.3_Splice_Site_p.G483_splice|BAT3_uc003nvh.3_Splice_Site_p.G483_splice|BAT3_uc003nvi.3_Splice_Site_p.G483_splice|BAT3_uc011dnw.1_Splice_Site_p.G483_splice|BAT3_uc011dnx.1_Splice_Site_p.G483_splice	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a						apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0						ACCTGCTGTCCTGTGGGTGGC	0.667													A	31611972	C	A	31611972	5	1	27	1	0	0	0	0	0	0	1	0	1322	695	24	5	1989	5	BAT3	6	31611972	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	9007	31611972	139503095	3128	27079											
C6orf47	57827	broad.mit.edu	37	chr6	31627032	31627032	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggctcagaacagcatggagCccatgcagggcagccaggaa	14	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:31627032C>G	uc003nvm.1	-	1	1518	c.693G>C	c.(691-693)GGG>GGC	p.G231G		NM_021184	NP_067007	O95873	CF047_HUMAN	G4 protein	231										ovary(1)	1						CAGCATGGAGCCCATGCAGGG	0.642													G	31627032	C	G	31627032	2	3	27	1	0	0	0	0	0	0	0	1	2364	726	26	5		5	C6orf47	6	31627032	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	15060	31627032	139488035	3129	27080											
CSNK2B	1460	broad.mit.edu	37	chr6	31637275	31637275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagagacctgccaaccagTttgtgcccaggtagggagca	12	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:31637275T>C	uc003nvr.1	+	6	887	c.547T>C	c.(547-549)TTT>CTT	p.F183L	CSNK2B_uc003nvs.1_Missense_Mutation_p.F183L|LY6G5B_uc003nvt.1_5'Flank	NM_001320	NP_001311	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	183					adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding				0						TGCCAACCAGTTTGTGCCCAG	0.577													C	31637275	T	C	31637275	3	2	27	1	0	0	0	0	1	0	0	0	3959	1725	60	3	565	3	CSNK2B	6	31637275	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	10243	31637275	139477792	3130	27081											
C6orf25	80739	broad.mit.edu	37	chr6	31692601	31692602	+	Frame_Shift_Ins	INS	-	-	G													ggaagagcccaagattccagINSgggacctggaccaggaaccg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:31692600_31692601A>AG	uc011doc.2	+	4	640_641	c.600_601A>AG	c.(598-603)ccagggfs	p.P200fs	C6orf25_uc021yux.1_Frame_Shift_Ins_p.P200fs|C6orf25_uc003nwk.3_Frame_Shift_Ins_p.R207fs|C6orf25_uc011dod.2_Frame_Shift_Ins_p.P156fs|C6orf25_uc003nwn.3_Frame_Shift_Ins_p.R207fs|C6orf25_uc011doe.2_Frame_Shift_Ins_p.P176fs|C6orf25_uc003nwo.3_Frame_Shift_Ins_p.R163fs	NM_138272	NP_612116	O95866	G6B_HUMAN	Homo sapiens chromosome 6 open reading frame 25 (C6orf25), transcript variant 2, mRNA.	200						Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						CCAAGATTCCAGGGGACCTGGA	0.545													G	31692602	-	G	31692601	7	5	27	1	0	1	1	0	0	0	0	0	2360	1000	35	0	638	0	C6orf25	6	31692601	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	55326	31692601	139422466	3131	27082											
CLIC1	1192	broad.mit.edu	37	chr6	31701702	31701702	+	Frame_Shift_Del	DEL	C	C	-													tacagcaggaatgggagctgCccccctgggcacagcttctg					rs1049227		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:31701701_31701701GC>G	uc003nwr.3	-	2	451	c.187_187GC>C	c.(187-189)cagfs	p.Q63fs		NM_001288	NP_001279	O00299	CLIC1_HUMAN	Homo sapiens chloride intracellular channel 1 (CLIC1), mRNA.	63	Required for insertion into the membrane.			Q -> E (in Ref. 1; AAC25675 and 3; AAD26137).	signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						AATGGGAGCTGCCCCCCTGGG	0.562													-	31701702	C	-	31701702	7	5	27	1	0	1	0	1	0	0	0	0	3525	726	26	0	555	0	CLIC1	6	31701702	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	9101	31701702	139413365	3132	27083											
VARS	7407	broad.mit.edu	37	chr6	31747231	31747231	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggatccgggtgaggttgtagTcggcccgcagggagcgcacg	19	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:31747231T>A	uc003nxe.2	-	28	3794	c.3371A>T	c.(3370-3372)GAC>GTC	p.D1124V	C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank|VARS_uc003nxf.1_Missense_Mutation_p.D61V	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1124					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	GAGGTTGTAGTCGGCCCGCAG	0.687													A	31747231	T	A	31747231	3	1	27	1	0	0	0	0	1	0	0	0	17120	1667	58	5	435	5	VARS	6	31747231	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	45529	31747231	139367836	3133	27084											
CFB	629	broad.mit.edu	37	chr6	31914250	31914250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgacttctccaagagggCcaggcactggagtacgtgtg	13	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:31914250C>T	uc003nyj.3	+	2	443	c.165C>T	c.(163-165)GGC>GGT	p.G55G	CFB_uc011dor.1_Silent_p.G557G|CFB_uc011dos.1_Silent_p.G55G|CFB_uc003nyi.2_Silent_p.G55G	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	55	Sushi 1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1						TCCAAGAGGGCCAGGCACTGG	0.602													T	31914250	C	T	31914250	2	4	27	1	0	0	0	0	0	0	0	1	3278	726	26	2		2	CFB	6	31914250	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	167019	31914250	139200817	3134	27085											
C4A	720	broad.mit.edu	37	chr6	31963556	31963556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgcggcttggttgtcacGggacagcagcacctggtgag	15	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:31963556G>A	uc011doy.1	+	25	3266	c.3215G>A	c.(3214-3216)CGG>CAG	p.R1072Q	C4A_uc011doz.1_Missense_Mutation_p.R1072Q	NM_007293	NP_009224	P0C0L4	CO4A_HUMAN	complement component 4A preproprotein	1072					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity				0						TGGTTGTCACGGGACAGCAGC	0.622													A	31963556	G	A	31963556	3	1	27	1	0	0	0	0	1	0	0	0	2247	1116	39	1	3313	1	C4A	6	31963556	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	49306	31963556	139151511	3135	27086											
C4A	720	broad.mit.edu	37	chr6	31963570	31963570	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacgggacagcagcaccTggtgagcttgggagagtggt	17	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:31963570T>C	uc011doy.1	+	25	3280	c.3229T>C	c.(3229-3231)TGG>CGG	p.W1077R	C4A_uc011doz.1_Missense_Mutation_p.W1077R	NM_007293	NP_009224	P0C0L4	CO4A_HUMAN	complement component 4A preproprotein	1077					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity				0						CAGCAGCACCTGGTGAGCTTG	0.617													C	31963570	T	C	31963570	3	2	27	1	0	0	0	0	1	0	0	0	2247	1594	55	3	3327	3	C4A	6	31963570	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	14	31963570	139151497	3136	27087											
TNXB	7148	broad.mit.edu	37	chr6	32017118	32017118	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtacagatgcatcttgtatTtgcgcccgggctccaggccc	11	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:32017118T>C	uc003nzl.2	-	28	9882	c.9680A>G	c.(9679-9681)AAA>AGA	p.K3227R	TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3274	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CATCTTGTATTTGCGCCCGGG	0.687													C	32017118	T	C	32017118	3	2	27	1	0	0	0	0	1	0	0	0	16343	1841	64	3	5101	3	TNXB	6	32017118	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	53548	32017118	139097949	3137	27088											
TNXB	7148	broad.mit.edu	37	chr6	32021419	32021419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacggtcagctccccgaggCgaggcttgttggggggctca	16	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:32021419C>T	uc003nzl.2	-	25	8733	c.8531G>A	c.(8530-8532)CGC>CAC	p.R2844H		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2893	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CTCCCCGAGGCGAGGCTTGTT	0.632													T	32021419	C	T	32021419	3	4	27	1	0	0	0	0	1	0	0	0	16343	768	27	1	6262	1	TNXB	6	32021419	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4301	32021419	139093648	3138	27089											
TNXB	7148	broad.mit.edu	37	chr6	32046840	32046840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggcggacaccgggcccaCgcgctgcccctcgtggaggc	15	18	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:32046840C>T	uc003nzl.2	-	11	4547	c.4345G>A	c.(4345-4347)GTG>ATG	p.V1449M		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1536	Fibronectin type-III 7.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						ACCGGGCCCACGCGCTGCCCC	0.672													T	32046840	C	T	32046840	3	4	27	1	0	0	0	0	1	0	0	0	16343	536	19	1	10504	1	TNXB	6	32046840	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	25421	32046840	139068227	3139	27090											
TNXB	7148	broad.mit.edu	37	chr6	32064256	32064256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgcacaccgcagtcctcGccgctgtagcccgcattgca	10	18	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:32064256G>A	uc003nzl.2	-	3	1576	c.1374C>T	c.(1372-1374)GGC>GGT	p.G458G		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	458	EGF-like 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CGCAGTCCTCGCCGCTGTAGC	0.687													A	32064256	G	A	32064256	2	1	27	1	0	0	0	0	0	0	0	1	16343	1074	38	1		1	TNXB	6	32064256	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	17416	32064256	139050811	3140	27091											
TNXB	7148	broad.mit.edu	37	chr6	32065914	32065914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagaaggggcctgctctgGctgtgctcagcagcaccagg	15	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:32065914G>A	uc003nzl.2	-	2	264	c.62C>T	c.(61-63)GCC>GTC	p.A21V	TNXB_uc010jts.1_Missense_Mutation_p.A20V|ATF6B_uc003nzm.1_3'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	21					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GCCTGCTCTGGCTGTGCTCAG	0.637													A	32065914	G	A	32065914	3	1	27	1	0	0	0	0	1	0	0	0	16343	1203	42	2	14823	2	TNXB	6	32065914	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1658	32065914	139049153	3141	27092											
NOTCH4	4855	broad.mit.edu	37	chr6	32163290	32163290	+	Frame_Shift_Del	DEL	C	C	-													cacagtcaagttgaggtgatCcccgctccggggacggagta							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:32163289_32163289TC>T	uc003obb.3	-	29	6076	c.5937_5937GA>A	c.(5935-5937)ggafs	p.G1979fs	GPSM3_uc003oay.4_5'Flank|GPSM3_uc003oaz.3_5'UTR|NOTCH4_uc011dpt.2_3'UTR|NOTCH4_uc003oba.3_Frame_Shift_Del_p.G639fs|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1979					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.R1978L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTTGAGGTGATCCCCGCTCCG	0.562													-	32163290	C	-	32163290	7	5	27	1	0	1	0	1	0	0	0	0	10551	855	30	0	79	0	NOTCH4	6	32163290	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	97376	32163290	138951777	3142	27093											
HLA-DRA	3122	broad.mit.edu	37	chr6	32410334	32410334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtggatatggcaaagaaGgagacggtctggcggcttga	16	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:32410334G>A	uc003obh.2	+	2	273	c.192G>A	c.(190-192)AAG>AAA	p.K64K	HLA-DRA_uc003obi.2_Silent_p.K64K	NM_019111	NP_061984	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR	64	Extracellular (Potential).|Alpha-1.			K -> L (in Ref. 12; AA sequence).	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			ovary(1)|skin(1)	2						TGGCAAAGAAGGAGACGGTCT	0.468									T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of				A	32410334	G	A	32410334	2	1	27	1	0	0	0	0	0	0	0	1	7207	991	35	4		4	HLA-DRA	6	32410334	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	247044	32410334	138704733	3143	27094											
TAP2	6891	broad.mit.edu	37	chr6	32782325	32782325	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacagagcagtgcagcagatTatgctggtgcaggagtgggg	17	7	0	2	rs139684832		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:32782325T>A	uc011dqf.1	-	14	2358	c.2236A>T	c.(2236-2238)AAT>TAT	p.N746Y	HLA-DOB_uc003oca.2_Missense_Mutation_p.N139Y|HLA-DOB_uc011dqg.1_Missense_Mutation_p.N139Y	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	Error:Variant_position_missing_in_Q03519_after_alignment					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						TGCAGCAGATTATGCTGGTGC	0.532													A	32782325	T	A	32782325	3	1	27	1	0	0	0	0	1	0	0	0	15548	1754	61	5		5	TAP2	6	32782325	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	371991	32782325	138332742	3144	27095											
TAP2	6891	broad.mit.edu	37	chr6	32782846	32782846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccacagtgaagggtgcGcccagcctgtagttgtgtct	12	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:32782846G>A	uc011dqf.1	-	13	2279	c.2157C>T	c.(2155-2157)GGC>GGT	p.G719G	HLA-DOB_uc003oca.2_Silent_p.G112G|HLA-DOB_uc011dqg.1_Silent_p.G112G	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	Error:Variant_position_missing_in_Q03519_after_alignment					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						TGAAGGGTGCGCCCAGCCTGT	0.592													A	32782846	G	A	32782846	2	1	27	1	0	0	0	0	0	0	0	1	15548	1074	38	1		1	TAP2	6	32782846	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	521	32782846	138332221	3145	27096											
TAP2	6891	broad.mit.edu	37	chr6	32800520	32800520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcctcggccccaaaactgcGaacggtctgcagccctccaa	8	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:32800520G>A	uc003occ.2	-	5	1058	c.1027C>T	c.(1027-1029)CGC>TGC	p.R343C	TAP2_uc011dqf.1_Missense_Mutation_p.R343C|TAP2_uc003ocb.1_Missense_Mutation_p.R343C|TAP2_uc003ocd.2_Missense_Mutation_p.R343C	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	343	Involved in peptide-binding site.|ABC transmembrane type-1.|Cytoplasmic (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						CCAAAACTGCGAACGGTCTGC	0.602													A	32800520	G	A	32800520	3	1	27	1	0	0	0	0	1	0	0	0	15548	1058	37	1	1146	1	TAP2	6	32800520	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	17674	32800520	138314547	3146	27097											
TAP1	6890	broad.mit.edu	37	chr6	32818896	32818896	+	Frame_Shift_Del	DEL	G	G	-													gagaatcactcagggtggacGtgtcctctgttacccgagac							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:32818895_32818895CG>C	uc003ocg.3	-	3	1211	c.1056_1056CG>G	c.(1054-1056)acgfs	p.T352fs	TAP1_uc011dqi.2_Frame_Shift_Del_p.T91fs	NM_000593	NP_000584	Q03518	TAP1_HUMAN	Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA.	352	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	TAP complex|cytosol|plasma membrane	ADP binding|ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						TCAGGGTGGACGTGTCCTCTG	0.502													-	32818896	G	-	32818896	7	5	27	1	0	1	0	1	0	0	0	0	15547	1145	40	0	1403	0	TAP1	6	32818896	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	18376	32818896	138296171	3147	27098											
TAP1	6890	broad.mit.edu	37	chr6	32819903	32819904	+	Frame_Shift_Ins	INS	-	-	A													acctgtctggttctgttggaINSaaaactccgtctcctggcgc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:32819902_32819903G>GA	uc003ocg.3	-	2	1162_1163	c.1007_1008C>TC	c.(1006-1008)ttcfs	p.F336fs	TAP1_uc011dqi.2_Frame_Shift_Ins_p.F75fs|PSMB9_uc011dqj.2_5'Flank|PSMB9_uc003sga.3_5'Flank	NM_000593	NP_000584	Q03518	TAP1_HUMAN	Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA.	336	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	TAP complex|cytosol|plasma membrane	ADP binding|ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						GGTTCTGTTGGAAAAACTCCGT	0.525													A	32819904	-	A	32819903	7	5	27	1	0	1	1	0	0	0	0	0	15547	246	9	0	1455	0	TAP1	6	32819903	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	1007	32819903	138295164	3148	27099											
HLA-DMB	3109	broad.mit.edu	37	chr6	32906545	32906545	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaagcgctgcatcagggTgtctttttggttgaggtgct	15	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:32906545T>C	uc003ocl.1	-	2	486	c.253A>G	c.(253-255)ACC>GCC	p.T85A	HLA-DMB_uc003ocj.1_Missense_Mutation_p.T85A|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_5'Flank|HLA-DMB_uc010jue.1_5'Flank|HLA-DMB_uc010juf.1_5'Flank|HLA-DMB_uc011dql.1_Missense_Mutation_p.T85A	NM_002118	NP_002109	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM	85	Beta-1.|Lumenal (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex					0						TGCATCAGGGTGTCTTTTTGG	0.552													C	32906545	T	C	32906545	3	2	27	1	0	0	0	0	1	0	0	0	7199	1696	59	3	558	3	HLA-DMB	6	32906545	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	86642	32906545	138208522	3149	27100											
BRD2	6046	broad.mit.edu	37	chr6	32944082	32944082	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgccgtctcttctgtgtcAcacacagccctgtatactcc	6	17	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:32944082A>G	uc003ocn.3	+	6	2367	c.666A>G	c.(664-666)TCA>TCG	p.S222S	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Silent_p.S222S|BRD2_uc003ocp.3_Silent_p.S102S|BRD2_uc010juh.2_Silent_p.S222S	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	222					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CTTCTGTGTCACACACAGCCC	0.498													G	32944082	A	G	32944082	2	3	27	1	0	0	0	0	0	0	0	1	1502	146	6	3		3	BRD2	6	32944082	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	37537	32944082	138170985	3150	27101											
BRD2	6046	broad.mit.edu	37	chr6	32946140	32946140	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttaggcccttctggctttGgaccttctggaggaagtggc	13	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:32946140G>T	uc003ocn.3	+	10	3517	c.1816G>T	c.(1816-1818)GGA>TGA	p.G606*	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Nonsense_Mutation_p.G606*|BRD2_uc003ocp.3_Nonsense_Mutation_p.G486*|BRD2_uc010juh.2_Nonsense_Mutation_p.G606*	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	606					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TTCTGGCTTTGGACCTTCTGG	0.542													T	32946140	G	T	32946140	4	4	27	1	0	0	0	0	0	1	0	0	1502	1349	47	5	1850	5	BRD2	6	32946140	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2058	32946140	138168927	3151	27102											
BRD2	6046	broad.mit.edu	37	chr6	32947622	32947622	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taggctccccaaaaaggccaCaaagacagccccacctgccc	7	18	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:32947622C>G	uc003ocn.3	+	11	3560	c.1859C>G	c.(1858-1860)ACA>AGA	p.T620R	BRD2_uc003ocq.3_Missense_Mutation_p.T620R|BRD2_uc003ocp.3_Missense_Mutation_p.T500R|BRD2_uc010juh.2_Missense_Mutation_p.T655R	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	620					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						AAAAAGGCCACAAAGACAGCC	0.498													G	32947622	C	G	32947622	3	3	27	1	0	0	0	0	1	0	0	0	1502	478	17	5	1897	5	BRD2	6	32947622	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1482	32947622	138167445	3152	27103											
HLA-DOA	3111	broad.mit.edu	37	chr6	32975164	32975164	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgtcctcggctgagggcacGaagggcaggtagtggaactt	16	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:32975164G>A	uc003ocr.2	-	3	613	c.537C>T	c.(535-537)TTC>TTT	p.F179F	HLA-DOA_uc010juj.2_Silent_p.F149F|HLA-DOA_uc010jui.2_Silent_p.F179F	NM_002119	NP_002110	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO	179	Extracellular (Potential).|Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0						CTGAGGGCACGAAGGGCAGGT	0.627													A	32975164	G	A	32975164	2	1	27	1	0	0	0	0	0	0	0	1	7200	1049	37	1		1	HLA-DOA	6	32975164	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	27542	32975164	138139903	3153	27104											
COL11A2	1302	broad.mit.edu	37	chr6	33133401	33133401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgggtccctgttggccGcctcatctgctcgatctcct	10	16	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:33133401G>A	uc003ocx.1	-	63	4903	c.4675C>T	c.(4675-4677)CGG>TGG	p.R1559W	COL11A2_uc010jul.1_Missense_Mutation_p.R129W|COL11A2_uc003ocy.1_Missense_Mutation_p.R1473W|COL11A2_uc003ocz.1_Missense_Mutation_p.R1452W	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1559	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						CCTGTTGGCCGCCTCATCTGC	0.662													A	33133401	G	A	33133401	3	1	27	1	0	0	0	0	1	0	0	0	3668	1086	38	1	551	1	COL11A2	6	33133401	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	158237	33133401	137981666	3154	27105											
COL11A2	1302	broad.mit.edu	37	chr6	33133486	33133486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactgccgggggctcccccGgtcggtatggcctcatcttc	14	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:33133486G>A	uc003ocx.1	-	63	4818	c.4590C>T	c.(4588-4590)ACC>ACT	p.T1530T	COL11A2_uc010jul.1_Silent_p.T100T|COL11A2_uc003ocy.1_Silent_p.T1444T|COL11A2_uc003ocz.1_Silent_p.T1423T	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1530					cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						GGGCTCCCCCGGTCGGTATGG	0.647													A	33133486	G	A	33133486	2	1	27	1	0	0	0	0	0	0	0	1	3668	1103	39	1		1	COL11A2	6	33133486	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	85	33133486	137981581	3155	27106											
SLC39A7	7922	broad.mit.edu	37	chr6	33169042	33169042	+	Frame_Shift_Del	DEL	C	C	-													gatggccagaggcctgggggCcccccactgggtggccgtgg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:33169041_33169041GC>G	uc003odf.3	+	1	136	c.19_19GC>G	c.(19-21)gccfs	p.A7fs	RXRB_uc003odb.3_5'Flank|RXRB_uc003odc.3_5'Flank|RXRB_uc011dqr.2_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc003ode.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.3_Frame_Shift_Del_p.A7fs|SLC39A7_uc011dqv.2_5'UTR	NM_001077516	NP_008910	Q92504	S39A7_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA.	7				A -> G (in Ref. 1; BAA11528 and 2; AAD12305).		endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	p.A7fs*10(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						AGGCCTGGGGGCCCCCCACTG	0.627													-	33169042	C	-	33169042	7	5	27	1	0	1	0	1	0	0	0	0	14623	739	26	0	22	0	SLC39A7	6	33169042	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	35556	33169042	137946025	3156	27107											
RING1	6015	broad.mit.edu	37	chr6	33177443	33177443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagattgctgtttcccctcGgtcactgcattcagaactca	8	12	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:33177443G>A	uc003odk.2	+	3	313	c.119G>A	c.(118-120)CGG>CAG	p.R40Q	RING1_uc011dqw.1_3'UTR|RING1_uc011dqx.1_Missense_Mutation_p.R40Q|RING1_uc003odl.2_Missense_Mutation_p.R11Q	NM_002931	NP_002922	Q06587	RING1_HUMAN	ring finger protein 1	40	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GTTTCCCCTCGGTCACTGCAT	0.493													A	33177443	G	A	33177443	3	1	27	1	0	0	0	0	1	0	0	0	13374	1116	39	1	125	1	RING1	6	33177443	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	8401	33177443	137937624	3157	27108											
RING1	6015	broad.mit.edu	37	chr6	33178990	33178991	+	Frame_Shift_Ins	INS	-	-	G													tcagaccacaacgatgagtgINSggggggaaggagagcccggg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:33178989_33178990T>TG	uc003odk.3	+	4	704_705	c.510_511T>TG	c.(508-513)agtgggfs	p.S170fs	RING1_uc011dqx.1_Frame_Shift_Ins_p.S170fs|RING1_uc003odl.3_Frame_Shift_Ins_p.S141fs	NM_002931	NP_002922	Q06587	RING1_HUMAN	Homo sapiens ring finger protein 1 (RING1), mRNA.	170	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|cytoplasm|nuclear speck	protein binding|zinc ion binding	p.G171V(1)		endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CAACGATGAGTGGGGGGGAAGG	0.619													G	33178991	-	G	33178990	7	5	27	1	0	1	1	0	0	0	0	0	13374	1348	47	0	525	0	RING1	6	33178990	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	1547	33178990	137936077	3158	27109											
B3GALT4	8705	broad.mit.edu	37	chr6	33245430	33245430	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgctcatcctggtgtgCacggctccggagaacctgaa	11	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:33245430C>T	uc003odr.2	+	1	514	c.234C>T	c.(232-234)TGC>TGT	p.C78C		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	78	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2						TCCTGGTGTGCACGGCTCCGG	0.687													T	33245430	C	T	33245430	2	4	27	1	0	0	0	0	0	0	0	1	1249	718	25	2		2	B3GALT4	6	33245430	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	66440	33245430	137869637	3159	27110											
B3GALT4	8705	broad.mit.edu	37	chr6	33245707	33245707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgccccatggcccgatacGtcctcaagacggacgatgat	10	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:33245707G>A	uc003odr.2	+	1	791	c.511G>A	c.(511-513)GTC>ATC	p.V171I		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	171	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2						GGCCCGATACGTCCTCAAGAC	0.587													A	33245707	G	A	33245707	3	1	27	1	0	0	0	0	1	0	0	0	1249	1145	40	1	513	1	B3GALT4	6	33245707	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	277	33245707	137869360	3160	27111											
WDR46	9277	broad.mit.edu	37	chr6	33247573	33247573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctccttctttccctgctCcagggagatgacatccacct	7	16	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:33247573C>T	uc003ods.2	-	13	1632	c.1588G>A	c.(1588-1590)GAG>AAG	p.E530K	WDR46_uc011dra.1_Missense_Mutation_p.E476K	NM_005452	NP_005443	O15213	WDR46_HUMAN	WD repeat domain 46 isoform 1	530											0						TTTCCCTGCTCCAGGGAGATG	0.602													T	33247573	C	T	33247573	3	4	27	1	0	0	0	0	1	0	0	0	17296	864	30	4	256	4	WDR46	6	33247573	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1866	33247573	137867494	3161	27112											
KIFC1	3833	broad.mit.edu	37	chr6	33365928	33365928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaccagatggaagatggCctggagcctgagaaggtgag	16	8	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:33365928C>T	uc003oef.3	+	2	585	c.135C>T	c.(133-135)GGC>GGT	p.G45G	KIFC1_uc011drf.1_Silent_p.G45G|uc011drg.1_5'Flank	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	45					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0						TGGAAGATGGCCTGGAGCCTG	0.537													T	33365928	C	T	33365928	2	4	27	1	0	0	0	0	0	0	0	1	8312	726	26	2		2	KIFC1	6	33365928	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	118355	33365928	137749139	3162	27113											
ITPR3	3710	broad.mit.edu	37	chr6	33641390	33641390	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catcctcaatgtccgcctggAttaccgcatatcctacctgc	6	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:33641390A>T	uc011drk.1	+	23	3170	c.2951A>T	c.(2950-2952)GAT>GTT	p.D984V		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	984	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						GTCCGCCTGGATTACCGCATA	0.542													T	33641390	A	T	33641390	3	4	27	1	0	0	0	0	1	0	0	0	7922	333	12	5	3041	5	ITPR3	6	33641390	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	275462	33641390	137473677	3163	27114											
ITPR3	3710	broad.mit.edu	37	chr6	33648175	33648175	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtggagatgaaggagatcTacaccagcaaccacatctgg	12	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:33648175T>C	uc011drk.1	+	32	4513	c.4294T>C	c.(4294-4296)TAC>CAC	p.Y1432H		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1432	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						GAAGGAGATCTACACCAGCAA	0.592													C	33648175	T	C	33648175	3	2	27	1	0	0	0	0	1	0	0	0	7922	1522	53	3	4420	3	ITPR3	6	33648175	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	6785	33648175	137466892	3164	27115											
C6orf125	84300	broad.mit.edu	37	chr6	33669177	33669177	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagctctcgtacatctgatcAcaggcctcaggctctgcaac	8	14	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:33669177A>G	uc003ofa.1	-	2	200	c.159T>C	c.(157-159)TGT>TGC	p.C53C	C6orf125_uc003oez.1_5'Flank|C6orf125_uc010jve.1_RNA	NM_032340	NP_115716	Q9BRT2	CF125_HUMAN	hypothetical protein LOC84300	53											0						ACATCTGATCACAGGCCTCAG	0.493													G	33669177	A	G	33669177	2	3	27	1	0	0	0	0	0	0	0	1	2325	157	6	3		3	C6orf125	6	33669177	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	21002	33669177	137445890	3165	27116											
LEMD2	221496	broad.mit.edu	37	chr6	33746099	33746099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacacccatgcgggggtggGcagattccaggcagaccacc	13	14	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:33746099G>A	uc011drm.1	-	6	1089	c.1076C>T	c.(1075-1077)GCC>GTC	p.A359V	LEMD2_uc010jvg.2_Missense_Mutation_p.A68V|LEMD2_uc011drl.1_Missense_Mutation_p.A57V|LEMD2_uc003ofe.2_Missense_Mutation_p.A57V	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	LEM domain containing 2 isoform 1	359						integral to nuclear inner membrane				central_nervous_system(1)	1						GCGGGGGTGGGCAGATTCCAG	0.572													A	33746099	G	A	33746099	3	1	27	1	0	0	0	0	1	0	0	0	8720	1203	42	2	451	2	LEMD2	6	33746099	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	76922	33746099	137368968	3166	27117											
PACSIN1	29993	broad.mit.edu	37	chr6	34495114	34495114	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcttggccgccaggtgggGaactacaagcggaccgtgaa	15	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:34495114G>A	uc003ojo.2	+	3	275	c.69G>A	c.(67-69)GGG>GGA	p.G23G	PACSIN1_uc003ojp.2_Silent_p.G23G	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	23	FCH.				endocytosis		protein kinase activity				0						GCCAGGTGGGGAACTACAAGC	0.677											OREG0017366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	34495114	G	A	34495114	2	1	27	1	0	0	0	0	0	0	0	1	11374	1161	41	4		4	PACSIN1	6	34495114	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	749015	34495114	136619953	3167	27118											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34826075	34826075	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagttctttcattccaatTatgatcactttcctaaggtt	5	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:34826075T>C	uc003oju.3	+	14	2176	c.1942T>C	c.(1942-1944)TAT>CAT	p.Y648H	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	648										ovary(3)	3						TCATTCCAATTATGATCACTT	0.463													C	34826075	T	C	34826075	3	2	27	1	0	0	0	0	1	0	0	0	16965	1754	61	3	1996	3	UHRF1BP1	6	34826075	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	330961	34826075	136288992	3168	27119											
ANKS1A	23294	broad.mit.edu	37	chr6	34935065	34935065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgacagcactggctacacaCccctgcaccatgctgctttg	8	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:34935065C>T	uc003ojx.3	+	2	389	c.247C>T	c.(247-249)CCC>TCC	p.P83S	ANKS1A_uc011dss.1_Missense_Mutation_p.P83S|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR|ANKS1A_uc010jvq.1_5'Flank	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	83	ANK 1.					cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4						TGGCTACACACCCCTGCACCA	0.458													T	34935065	C	T	34935065	3	4	27	1	0	0	0	0	1	0	0	0	688	507	18	4	253	4	ANKS1A	6	34935065	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	108990	34935065	136180002	3169	27120											
ANKS1A	23294	broad.mit.edu	37	chr6	34985579	34985579	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcgcaccctgaaactttgActcacacagcatctccgcac	6	17	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:34985579A>G	uc003ojx.3	+	11	1895	c.1753A>G	c.(1753-1755)ACT>GCT	p.T585A	ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Missense_Mutation_p.T125A|ANKS1A_uc010jvp.1_Intron	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	585						cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4						TGAAACTTTGACTCACACAGC	0.627													G	34985579	A	G	34985579	3	3	27	1	0	0	0	0	1	0	0	0	688	275	10	3	1795	3	ANKS1A	6	34985579	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	50514	34985579	136129488	3170	27121											
TULP1	7287	broad.mit.edu	37	chr6	35477055	35477055	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgtagctgcctcctcctcCtcttcttcctccttcctcgc	4	21	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:35477055C>T	uc003okv.3	-	8	765	c.753G>A	c.(751-753)GAG>GAA	p.E251E	TULP1_uc003okw.3_Silent_p.E198E	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	251	Poly-Glu.				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			ovary(2)|central_nervous_system(1)	3						CCTCCTCCTCCTCTTCTTCCT	0.512													T	35477055	C	T	35477055	2	4	27	1	0	0	0	0	0	0	0	1	16770	680	24	4		4	TULP1	6	35477055	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	491476	35477055	135638012	3171	27122											
STK38	11329	broad.mit.edu	37	chr6	36465624	36465624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcaactccaggagctcCaattctatgttcccattcac	4	15	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:36465624C>T	uc003omg.2	-	11	1693	c.1105G>A	c.(1105-1107)GGA>AGA	p.G369R	STK38_uc003omh.2_Missense_Mutation_p.G369R|STK38_uc003omi.2_Missense_Mutation_p.G369R	NM_007271	NP_009202	Q15208	STK38_HUMAN	serine/threonine kinase 38	369	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						CCAGGAGCTCCAATTCTATGT	0.363													T	36465624	C	T	36465624	3	4	27	1	0	0	0	0	1	0	0	0	15302	603	21	4	304	4	STK38	6	36465624	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	988569	36465624	134649443	3172	27123											
STK38	11329	broad.mit.edu	37	chr6	36489556	36489556	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttacggagtattttcattgcAtacacatgtcccgtatcttt	6	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:36489556A>T	uc003omg.2	-	4	933	c.345T>A	c.(343-345)TAT>TAA	p.Y115*	STK38_uc003omh.2_Nonsense_Mutation_p.Y115*|STK38_uc003omi.2_Nonsense_Mutation_p.Y115*	NM_007271	NP_009202	Q15208	STK38_HUMAN	serine/threonine kinase 38	115	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						TTTTCATTGCATACACATGTC	0.358													T	36489556	A	T	36489556	4	4	27	1	0	0	0	0	0	1	0	0	15302	224	8	5	1092	5	STK38	6	36489556	Nonsense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	23932	36489556	134625511	3173	27124											
BTBD9	114781	broad.mit.edu	37	chr6	38560367	38560367	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttactgagcatgcctctatAattgaggtccatatcccggc	8	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:38560367A>G	uc003ooa.3	-	5	1375	c.799T>C	c.(799-801)TAT>CAT	p.Y267H	BTBD9_uc003ony.3_Missense_Mutation_p.Y199H|BTBD9_uc010jwv.2_Missense_Mutation_p.Y199H|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.Y267H	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9 isoform a	267					cell adhesion						0						ATGCCTCTATAATTGAGGTCC	0.473													G	38560367	A	G	38560367	3	3	27	1	0	0	0	0	1	0	0	0	1548	362	13	3	1162	3	BTBD9	6	38560367	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2070811	38560367	132554700	3174	27125											
DNAH8	1769	broad.mit.edu	37	chr6	38738194	38738194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacttttctcataggactgCatttttctattcaaggaata	5	7	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:38738194C>T	uc003ooe.1	+	10	1572	c.972C>T	c.(970-972)TGC>TGT	p.C324C		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CATAGGACTGCATTTTTCTAT	0.333													T	38738194	C	T	38738194	2	4	27	1	0	0	0	0	0	0	0	1	4607	718	25	2		2	DNAH8	6	38738194	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	177827	38738194	132376873	3175	27126											
DNAH8	1769	broad.mit.edu	37	chr6	38813476	38813476	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggagagctcctgctcaaaGgaaccgaatcgggagaaatt	12	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:38813476G>T	uc003ooe.1	+	34	4921	c.4321G>T	c.(4321-4323)GGA>TGA	p.G1441*		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CCTGCTCAAAGGAACCGAATC	0.403													T	38813476	G	T	38813476	4	4	27	1	0	0	0	0	0	1	0	0	4607	1001	35	5	4447	5	DNAH8	6	38813476	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	75282	38813476	132301591	3176	27127											
DNAH8	1769	broad.mit.edu	37	chr6	38825396	38825396	+	Frame_Shift_Del	DEL	T	T	-													tgcaagtgaccaatcagaaaTttttggatattctaaatact							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:38825395_38825395AT>A	uc021yzh.1	+	41	5944	c.5835_5835AT>A	c.(5833-5835)aaafs	p.K1945fs	DNAH8_uc003ooe.2_Frame_Shift_Del_p.K1728fs	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.G1944E(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCAATCAGAAATTTTTGGATA	0.378													-	38825396	T	-	38825396	7	5	27	1	0	1	0	1	0	0	0	0	4607	1493	52	0	5335	0	DNAH8	6	38825396	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	11920	38825396	132289671	3177	27128											
DNAH8	1769	broad.mit.edu	37	chr6	38840517	38840517	+	Frame_Shift_Del	DEL	T	T	-													caatgactggacagatgggaTtttttctactctgtggagaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:38840516_38840516AT>A	uc021yzh.1	+	49	7304	c.7195_7195AT>A	c.(7195-7197)attfs	p.I2399fs	DNAH8_uc003ooe.2_Frame_Shift_Del_p.I2182fs	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GACAGATGGGATTTTTTCTAC	0.403													-	38840517	T	-	38840517	7	5	27	1	0	1	0	1	0	0	0	0	4607	1493	52	0	6727	0	DNAH8	6	38840517	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	15121	38840517	132274550	3178	27129											
DNAH8	1769	broad.mit.edu	37	chr6	38858521	38858521	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctcagtgggtagagtgcTgtggcaatggactaaggtac	15	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:38858521T>C	uc003ooe.1	+	56	8516	c.7916T>C	c.(7915-7917)CTG>CCG	p.L2639P		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GGTAGAGTGCTGTGGCAATGG	0.373													C	38858521	T	C	38858521	3	2	27	1	0	0	0	0	1	0	0	0	4607	1580	55	3	8130	3	DNAH8	6	38858521	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	18004	38858521	132256546	3179	27130											
DNAH8	1769	broad.mit.edu	37	chr6	38951995	38951995	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataaagggtgtatcatggaAtacggttcggtacatgatcg	12	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:38951995A>G	uc003ooe.1	+	85	12914	c.12314A>G	c.(12313-12315)AAT>AGT	p.N4105S	DNAH8_uc003oog.1_Missense_Mutation_p.N554S	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GTATCATGGAATACGGTTCGG	0.368													G	38951995	A	G	38951995	3	3	27	1	0	0	0	0	1	0	0	0	4607	101	4	3	12644	3	DNAH8	6	38951995	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	93474	38951995	132163072	3180	27131											
KIF6	221458	broad.mit.edu	37	chr6	39563911	39563911	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actccagtctttgcaactcgCtctgaaccagccaggtcaac	7	15	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:39563911C>A	uc003oot.2	-	7	860	c.765G>T	c.(763-765)GAG>GAT	p.E255D	KIF6_uc010jxa.1_Missense_Mutation_p.E46D|KIF6_uc011dua.1_Missense_Mutation_p.E255D|KIF6_uc010jxb.1_Missense_Mutation_p.E255D	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	255	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						TTGCAACTCGCTCTGAACCAG	0.473													A	39563911	C	A	39563911	3	1	27	1	0	0	0	0	1	0	0	0	8308	796	28	5	1747	5	KIF6	6	39563911	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	611916	39563911	131551156	3181	27132											
KIF6	221458	broad.mit.edu	37	chr6	39563941	39563941	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaggtcaaccagatggagTttggcatgtcgtacagttgc	13	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:39563941T>C	uc003oot.2	-	7	830	c.735A>G	c.(733-735)AAA>AAG	p.K245K	KIF6_uc010jxa.1_Silent_p.K36K|KIF6_uc011dua.1_Silent_p.K245K|KIF6_uc010jxb.1_Silent_p.K245K	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	245	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						CCAGATGGAGTTTGGCATGTC	0.468													C	39563941	T	C	39563941	2	2	27	1	0	0	0	0	0	0	0	1	8308	1722	60	3		3	KIF6	6	39563941	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	30	39563941	131551126	3182	27133											
KIF6	221458	broad.mit.edu	37	chr6	39580993	39580993	+	Frame_Shift_Del	DEL	A	A	-													tcattcggttggtgtctcctAaaaaaagcaaattcagagct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:39580992_39580992TA>T	uc003oot.2	-	5	707	c.612_612TA>A	c.(610-612)ttafs	p.L204fs	KIF6_uc010jxa.1_5'UTR|KIF6_uc011dua.1_Frame_Shift_Del_p.L204fs|KIF6_uc010jxb.1_Frame_Shift_Del_p.L204fs	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	204	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGGTGTCTCCTAAAAAAAGCA	0.398													-	39580993	A	-	39580993	7	5	27	1	0	1	0	1	0	0	0	0	8308	372	13	0	1905	0	KIF6	6	39580993	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	17052	39580993	131534074	3183	27134											
DAAM2	23500	broad.mit.edu	37	chr6	39843127	39843127	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaacggaacggtggctactTccagcagtggcagctcctgg	13	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:39843127T>A	uc003oow.2	+	11	1340	c.1184T>A	c.(1183-1185)TTC>TAC	p.F395Y	DAAM2_uc010jxc.2_Missense_Mutation_p.F395Y|DAAM2_uc003oox.2_Missense_Mutation_p.F395Y	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	395	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGTGGCTACTTCCAGCAGTGG	0.582													A	39843127	T	A	39843127	3	1	27	1	0	0	0	0	1	0	0	0	4216	1783	62	5	1222	5	DAAM2	6	39843127	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	262134	39843127	131271940	3184	27135											
MOCS1	4337	broad.mit.edu	37	chr6	39877611	39877611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcttcctgcccacagcaGccccaatgattctcagcagc	7	17	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:39877611G>A	uc003opb.2	-	8	1208	c.1070C>T	c.(1069-1071)GCT>GTT	p.A357V	MOCS1_uc003opa.2_Missense_Mutation_p.A357V|MOCS1_uc003opc.2_Missense_Mutation_p.A357V|MOCS1_uc003opd.2_Missense_Mutation_p.A357V|MOCS1_uc003ope.2_Missense_Mutation_p.A270V	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	357	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	p.A357V(1)		ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCCCACAGCAGCCCCAATGAT	0.617													A	39877611	G	A	39877611	3	1	27	1	0	0	0	0	1	0	0	0	9690	971	34	2	95	2	MOCS1	6	39877611	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	34484	39877611	131237456	3185	27136											
MOCS1	4337	broad.mit.edu	37	chr6	39880039	39880039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagctgtgattcgcaggCggttgcaggtcccacagaaa	12	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:39880039C>T	uc003opb.2	-	7	1088	c.950G>A	c.(949-951)CGC>CAC	p.R317H	MOCS1_uc003opa.2_Missense_Mutation_p.R317H|MOCS1_uc003opc.2_Missense_Mutation_p.R317H|MOCS1_uc003opd.2_Missense_Mutation_p.R317H|MOCS1_uc003ope.2_Missense_Mutation_p.R230H	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	317	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					GATTCGCAGGCGGTTGCAGGT	0.572													T	39880039	C	T	39880039	3	4	27	1	0	0	0	0	1	0	0	0	9690	768	27	1	219	1	MOCS1	6	39880039	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2428	39880039	131235028	3186	27137											
UNC5CL	222643	broad.mit.edu	37	chr6	40996189	40996189	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggctgccgccgtgtgTcccactcaggtagttctgga	14	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:40996189T>A	uc003opi.2	-	9	1569	c.1480A>T	c.(1480-1482)ACA>TCA	p.T494S		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	unc-5 homolog C-like	494	Death.|Cytoplasmic (Potential).				signal transduction	cytoplasm|integral to membrane				ovary(2)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCGCCGTGTGTCCCACTCAGG	0.687											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	40996189	T	A	40996189	3	1	27	1	0	0	0	0	1	0	0	0	16991	1667	58	5	80	5	UNC5CL	6	40996189	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1116150	40996189	130118878	3187	27138											
MDFI	4188	broad.mit.edu	37	chr6	41613964	41613964	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccctggaggaggcggcaacCcccatgccccaaggcaatgg	13	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:41613964C>A	uc003oqp.3	+	4	506	c.177C>A	c.(175-177)ACC>ACA	p.T59T	MDFI_uc003oqq.3_Silent_p.T59T|MDFI_uc010jxn.2_Silent_p.T59T	NM_005586	NP_005577	Q99750	MDFI_HUMAN	MyoD family inhibitor	59					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus					0	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			AGGCGGCAACCCCCATGCCCC	0.652													A	41613964	C	A	41613964	2	1	27	1	0	0	0	0	0	0	0	1	9404	610	22	5		5	MDFI	6	41613964	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	617775	41613964	129501103	3188	27139											
MDFI	4188	broad.mit.edu	37	chr6	41617445	41617445	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcggcaccagacgggcGgggaatggtgccctgggtgg	21	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:41617445G>T	uc003oqp.3	+	5	677	c.348G>T	c.(346-348)GCG>GCT	p.A116A	MDFI_uc003oqq.3_Silent_p.A116A|MDFI_uc010jxn.2_Silent_p.A116A	NM_005586	NP_005577	Q99750	MDFI_HUMAN	MyoD family inhibitor	116					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus					0	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			CCAGACGGGCGGGGAATGGTG	0.642													T	41617445	G	T	41617445	2	4	27	1	0	0	0	0	0	0	0	1	9404	1103	39	5		5	MDFI	6	41617445	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3481	41617445	129497622	3189	27140											
FRS3	10817	broad.mit.edu	37	chr6	41738995	41738995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggtgcacttgggctgggCtggacactcagaaggggcct	17	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:41738995C>T	uc003orc.1	-	7	1085	c.841G>A	c.(841-843)GCC>ACC	p.A281T		NM_006653	NP_006644	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	281					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			ovary(2)	2	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTGGGCTGGGCTGGACACTCA	0.647													T	41738995	C	T	41738995	3	4	27	1	0	0	0	0	1	0	0	0	6062	797	28	2	641	2	FRS3	6	41738995	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	121550	41738995	129376072	3190	27141											
USP49	25862	broad.mit.edu	37	chr6	41773764	41773764	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcgcatgcctcggccctgtCatttctcaaggacagctccg	9	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:41773764C>T	uc003ori.2	-	4	1180	c.958G>A	c.(958-960)GAC>AAC	p.D320N		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	320					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCGGCCCTGTCATTTCTCAAG	0.567													T	41773764	C	T	41773764	3	4	27	1	0	0	0	0	1	0	0	0	17077	826	29	4	980	4	USP49	6	41773764	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	34769	41773764	129341303	3191	27142											
TRERF1	55809	broad.mit.edu	37	chr6	42225919	42225919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccctggggtgaccgtcaCgttgctgccatcgatgctgt	14	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:42225919C>T	uc003osd.2	-	10	2853	c.2290G>A	c.(2290-2292)GTG>ATG	p.V764M	TRERF1_uc011duq.1_Missense_Mutation_p.V681M|TRERF1_uc003osb.2_Missense_Mutation_p.V520M|TRERF1_uc003osc.2_Missense_Mutation_p.V520M|TRERF1_uc003ose.2_Missense_Mutation_p.V784M	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	764	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTGACCGTCACGTTGCTGCCA	0.438													T	42225919	C	T	42225919	3	4	27	1	0	0	0	0	1	0	0	0	16472	536	19	1	1348	1	TRERF1	6	42225919	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	452155	42225919	128889148	3192	27143											
UBR2	23304	broad.mit.edu	37	chr6	42562040	42562040	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctctgaaattgaggaagaaGaggtaaaaacattttcacaa	8	6	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:42562040G>T	uc011dur.1	+	4	529	c.529G>T	c.(529-531)GAG>TAG	p.E177*	UBR2_uc003osf.2_Nonsense_Mutation_p.E177*	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	177					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TGAGGAAGAAGAGGTAAAAAC	0.358													T	42562040	G	T	42562040	4	4	27	1	0	0	0	0	0	1	0	0	16899	943	33	5	543	5	UBR2	6	42562040	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	336121	42562040	128553027	3193	27144											
UBR2	23304	broad.mit.edu	37	chr6	42603281	42603281	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcaggactggtgtgcttcAgatgtgagtttcttctgggt	14	6	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:42603281A>G	uc011dur.1	+	14	1671	c.1671A>G	c.(1669-1671)TCA>TCG	p.S557S	UBR2_uc011dus.1_Silent_p.S202S|UBR2_uc010jxv.1_Silent_p.S61S|UBR2_uc003osh.2_RNA	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	557					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GGTGTGCTTCAGATGTGAGTT	0.418													G	42603281	A	G	42603281	2	3	27	1	0	0	0	0	0	0	0	1	16899	175	7	3		3	UBR2	6	42603281	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	41241	42603281	128511786	3194	27145											
UBR2	23304	broad.mit.edu	37	chr6	42641876	42641876	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atctgtagcactggtgcctaAtgacagccatgaggaacttc	10	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:42641876A>C	uc011dur.1	+	38	4196	c.4196A>C	c.(4195-4197)AAT>ACT	p.N1399T	UBR2_uc011dus.1_Missense_Mutation_p.N1044T|UBR2_uc003osh.2_RNA|UBR2_uc011dut.1_5'UTR	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	1399					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CTGGTGCCTAATGACAGCCAT	0.333													C	42641876	A	C	42641876	3	2	27	1	0	0	0	0	1	0	0	0	16899	101	4	5	4492	5	UBR2	6	42641876	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	38595	42641876	128473191	3195	27146											
UBR2	23304	broad.mit.edu	37	chr6	42647508	42647508	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtagctatctttccctAccaaacaacctcatttgcct	3	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:42647508A>G	uc011dur.1	+	42	4656	c.4656A>G	c.(4654-4656)CTA>CTG	p.L1552L	UBR2_uc011dus.1_Silent_p.L1197L|UBR2_uc003osh.2_RNA|UBR2_uc011dut.1_Silent_p.L140L	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	1552					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATCTTTCCCTACCAAACAACC	0.323													G	42647508	A	G	42647508	2	3	27	1	0	0	0	0	0	0	0	1	16899	378	14	3		3	UBR2	6	42647508	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	5632	42647508	128467559	3196	27147											
CUL7	9820	broad.mit.edu	37	chr6	43020464	43020464	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcggatcagctcatcaggAtaggcatgtaagccgggccc	14	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:43020464A>G	uc003otq.2	-	2	366	c.63T>C	c.(61-63)TAT>TAC	p.Y21Y	CUL7_uc011dvb.1_Silent_p.Y73Y|CUL7_uc010jyh.2_5'UTR|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	21					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCTCATCAGGATAGGCATGTA	0.617													G	43020464	A	G	43020464	2	3	27	1	0	0	0	0	0	0	0	1	4060	340	12	3		3	CUL7	6	43020464	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	372956	43020464	128094603	3197	27148											
KLC4	89953	broad.mit.edu	37	chr6	43038134	43038134	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtgctctatggcaaaAggggcaagtacaaggaggca	15	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:43038134A>G	uc003otv.1	+	7	999	c.922A>G	c.(922-924)AGG>GGG	p.R308G	KLC4_uc003otr.1_RNA|KLC4_uc011dvd.1_Missense_Mutation_p.R231G|KLC4_uc003otw.1_Missense_Mutation_p.R326G|KLC4_uc003otx.1_Missense_Mutation_p.R308G|KLC4_uc003oty.1_Missense_Mutation_p.R308G|KLC4_uc003otz.1_Missense_Mutation_p.R308G	NM_201521	NP_958929	Q9NSK0	KLC4_HUMAN	kinesin-like 8 isoform a	308	TPR 4.					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			skin(3)|ovary(1)	4			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			CTATGGCAAAAGGGGCAAGTA	0.532											OREG0017448	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	43038134	A	G	43038134	3	3	27	1	0	0	0	0	1	0	0	0	8336	63	3	3	1071	3	KLC4	6	43038134	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	17670	43038134	128076933	3198	27149											
KLC4	89953	broad.mit.edu	37	chr6	43039057	43039057	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatatgctgaggctgagacActatacaaagagatcctgac	9	8	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:43039057A>G	uc003otv.1	+	9	1277	c.1200A>G	c.(1198-1200)ACA>ACG	p.T400T	KLC4_uc003otr.1_RNA|KLC4_uc011dvd.1_Silent_p.T323T|KLC4_uc003otw.1_Silent_p.T418T|KLC4_uc003otx.1_Silent_p.T400T|KLC4_uc003oty.1_Silent_p.T400T|KLC4_uc003otz.1_Silent_p.T400T	NM_201521	NP_958929	Q9NSK0	KLC4_HUMAN	kinesin-like 8 isoform a	400	TPR 6.					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			skin(3)|ovary(1)	4			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			AGGCTGAGACACTATACAAAG	0.512													G	43039057	A	G	43039057	2	3	27	1	0	0	0	0	0	0	0	1	8336	146	6	3		3	KLC4	6	43039057	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	923	43039057	128076010	3199	27150											
CUL9	23113	broad.mit.edu	37	chr6	43155142	43155142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacttgtgtgagcagcagCcaattttccagaatctttgg	11	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:43155142C>T	uc003ouk.2	+	6	1621	c.1546C>T	c.(1546-1548)CCA>TCA	p.P516S	CUL9_uc003ouj.1_Intron|CUL9_uc003oul.2_Missense_Mutation_p.P516S|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Intron	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	516					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						TGAGCAGCAGCCAATTTTCCA	0.468													T	43155142	C	T	43155142	3	4	27	1	0	0	0	0	1	0	0	0	4061	739	26	2	1564	2	CUL9	6	43155142	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	116085	43155142	127959925	3200	27151											
CUL9	23113	broad.mit.edu	37	chr6	43155582	43155582	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcccagatctacaccaaGtatgggctgctgtctaatga	8	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:43155582G>A	uc003ouk.2	+	7	1788	c.1713G>A	c.(1711-1713)AAG>AAA	p.K571K	CUL9_uc003ouj.1_Silent_p.K461K|CUL9_uc003oul.2_Silent_p.K571K|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Silent_p.K29K	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	571					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						TCTACACCAAGTATGGGCTGC	0.527													A	43155582	G	A	43155582	2	1	27	1	0	0	0	0	0	0	0	1	4061	1020	36	4		4	CUL9	6	43155582	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	440	43155582	127959485	3201	27152											
CUL9	23113	broad.mit.edu	37	chr6	43168555	43168555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatcaccctgcacatgcaCcgtggtgttcttgttaggtg	10	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:43168555C>T	uc003ouk.2	+	16	3705	c.3630C>T	c.(3628-3630)CAC>CAT	p.H1210H	CUL9_uc003oul.2_Silent_p.H1210H|CUL9_uc010jyk.2_Silent_p.H362H	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1210	DOC.				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						TGCACATGCACCGTGGTGTTC	0.552													T	43168555	C	T	43168555	2	4	27	1	0	0	0	0	0	0	0	1	4061	506	18	4		4	CUL9	6	43168555	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	12973	43168555	127946512	3202	27153											
CUL9	23113	broad.mit.edu	37	chr6	43172842	43172842	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagcagtccttcctcActgctgctcacgtgagtccc	9	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:43172842A>G	uc003ouk.2	+	23	4696	c.4621A>G	c.(4621-4623)ACT>GCT	p.T1541A	CUL9_uc003oul.2_Missense_Mutation_p.T1541A|CUL9_uc010jyk.2_Missense_Mutation_p.T693A	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1541					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GTCCTTCCTCACTGCTGCTCA	0.597													G	43172842	A	G	43172842	3	3	27	1	0	0	0	0	1	0	0	0	4061	159	6	3	4707	3	CUL9	6	43172842	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4287	43172842	127942225	3203	27154											
TTBK1	84630	broad.mit.edu	37	chr6	43226815	43226815	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctggggacctgctccgGgagaacaccgaggatgtgct	16	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:43226815G>A	uc003ouq.1	+	11	1335	c.1056G>A	c.(1054-1056)CGG>CGA	p.R352R		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	352						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ACCTGCTCCGGGAGAACACCG	0.662													A	43226815	G	A	43226815	2	1	27	1	0	0	0	0	0	0	0	1	16673	1219	43	4		4	TTBK1	6	43226815	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	53973	43226815	127888252	3204	27155											
ABCC10	89845	broad.mit.edu	37	chr6	43406490	43406490	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatttgatgcacagctgtAcaaggaggtgctagaagcct	12	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:43406490A>G	uc003ouy.1	+	8	2299	c.2084A>G	c.(2083-2085)TAC>TGC	p.Y695C	ABCC10_uc003ouz.1_Missense_Mutation_p.Y667C|ABCC10_uc010jyo.1_5'UTR	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	695	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GCACAGCTGTACAAGGAGGTG	0.552													G	43406490	A	G	43406490	3	3	27	1	0	0	0	0	1	0	0	0	50	391	14	3	2022	3	ABCC10	6	43406490	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	179675	43406490	127708577	3205	27156											
DLK2	65989	broad.mit.edu	37	chr6	43418614	43418614	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctggccccgtggcaggtAccactacagctgaggtgggc	17	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:43418614A>G	uc003ova.2	-	6	1024	c.815T>C	c.(814-816)GTA>GCA	p.V272A	DLK2_uc003ovb.2_Missense_Mutation_p.V272A	NM_023932	NP_076421	Q6UY11	DLK2_HUMAN	EGF-like-domain, multiple 9 precursor	272	Extracellular (Potential).					integral to membrane	calcium ion binding				0	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CGTGGCAGGTACCACTACAGC	0.647													G	43418614	A	G	43418614	3	3	27	1	0	0	0	0	1	0	0	0	4565	391	14	3	340	3	DLK2	6	43418614	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	12124	43418614	127696453	3206	27157											
POLR1C	9533	broad.mit.edu	37	chr6	43488739	43488739	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaaatcttccggaatgagaAgctaaagaaggttgtgaggc	13	5	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:43488739A>T	uc003ovn.2	+	8	932	c.875A>T	c.(874-876)AAG>ATG	p.K292M	POLR1C_uc003ovo.1_Missense_Mutation_p.K292M	NM_203290	NP_976035	O15160	RPAC1_HUMAN	RNA polymerase I subunit isoform 1	292					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CGGAATGAGAAGCTAAAGAAG	0.473													T	43488739	A	T	43488739	3	4	27	1	0	0	0	0	1	0	0	0	12211	72	3	5	905	5	POLR1C	6	43488739	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	70125	43488739	127626328	3207	27158											
XPO5	57510	broad.mit.edu	37	chr6	43541338	43541338	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttctttaaactcctcacaaaActgaaagaagaaaagttagt	5	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:43541338A>T	uc003ovp.2	-	2	317	c.106T>A	c.(106-108)TTT>ATT	p.F36I	POLH_uc010jyu.2_5'Flank|POLH_uc011dvl.1_5'Flank|POLH_uc003ovq.3_5'Flank	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	36	Necessary for interaction with Ran.				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TCCTCACAAAACTGAAAGAAG	0.383													T	43541338	A	T	43541338	3	4	27	1	0	0	0	0	1	0	0	0	17444	57	2	5	3632	5	XPO5	6	43541338	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	52599	43541338	127573729	3208	27159											
POLH	5429	broad.mit.edu	37	chr6	43581998	43581998	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttccaaatctgtgctggagGtgactcagaaagcaacccca	9	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:43581998G>T	uc003ovq.3	+	11	2150	c.1846G>T	c.(1846-1848)GTG>TTG	p.V616L	POLH_uc010jyu.2_Missense_Mutation_p.V492L|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_Missense_Mutation_p.V517L	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	DNA-directed DNA polymerase eta	616					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(2)	2	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TGTGCTGGAGGTGACTCAGAA	0.517								DNA_polymerases_(catalytic_subunits)	Xeroderma_Pigmentosum				T	43581998	G	T	43581998	3	4	27	1	0	0	0	0	1	0	0	0	12202	1261	44	5	1884	5	POLH	6	43581998	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	40660	43581998	127533069	3209	27160											
TMEM63B	55362	broad.mit.edu	37	chr6	44121530	44121530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaaccaggtggtggccgCgcccatcctctgcctcttct	11	15	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:44121530C>T	uc003owr.2	+	21	2124	c.2060C>T	c.(2059-2061)GCG>GTG	p.A687V	TMEM63B_uc003ows.2_Missense_Mutation_p.A590V|TMEM63B_uc010jyz.2_RNA	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	687	Helical; (Potential).					integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GTGGTGGCCGCGCCCATCCTC	0.612													T	44121530	C	T	44121530	3	4	27	1	0	0	0	0	1	0	0	0	16188	768	27	1	2138	1	TMEM63B	6	44121530	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	539532	44121530	126993537	3210	27161											
HSP90AB1	3326	broad.mit.edu	37	chr6	44216456	44216456	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgtccctcatcatcaaTaccttctattccaacaagga	3	14	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:44216456T>C	uc003oxa.1	+	2	174	c.90T>C	c.(88-90)AAT>AAC	p.N30N	HSP90AB1_uc011dvr.1_Silent_p.N30N|HSP90AB1_uc003oxb.1_Silent_p.N30N|HSP90AB1_uc011dvs.1_5'UTR|HSP90AB1_uc003oxc.1_5'Flank	NM_007355	NP_031381	P08238	HS90B_HUMAN	heat shock 90kDa protein 1, beta	30					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			lung(3)|breast(1)	4	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCATCATCAATACCTTCTATT	0.428													C	44216456	T	C	44216456	2	2	27	1	0	0	0	0	0	0	0	1	7402	1403	49	3		3	HSP90AB1	6	44216456	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	94926	44216456	126898611	3211	27162											
SLC35B2	347734	broad.mit.edu	37	chr6	44222795	44222795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctgttctagcagtgagCccactgtgaagaggcaggag	13	12	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:44222795C>T	uc003oxd.2	-	4	1083	c.947G>A	c.(946-948)GGC>GAC	p.G316D	SLC35B2_uc011dvt.1_Missense_Mutation_p.G219D|SLC35B2_uc011dvu.1_Missense_Mutation_p.G183D	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	solute carrier family 35, member B2	316	Helical; (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			ovary(1)|central_nervous_system(1)	2	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TAGCAGTGAGCCCACTGTGAA	0.552													T	44222795	C	T	44222795	3	4	27	1	0	0	0	0	1	0	0	0	14576	739	26	2	355	2	SLC35B2	6	44222795	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6339	44222795	126892272	3212	27163											
AARS2	57505	broad.mit.edu	37	chr6	44271037	44271037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcacctcatccagagagcGcaggccagggacctgggcag	13	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:44271037G>A	uc010jza.1	-	15	2134	c.2131C>T	c.(2131-2133)CGC>TGC	p.R711C	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	711					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	TCCAGAGAGCGCAGGCCAGGG	0.617													A	44271037	G	A	44271037	3	1	27	1	0	0	0	0	1	0	0	0	20	1087	38	1	858	1	AARS2	6	44271037	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	48242	44271037	126844030	3213	27164											
AARS2	57505	broad.mit.edu	37	chr6	44279148	44279148	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaagctcagccagatgtccCtggtctccaggtctgggtcc	11	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:44279148C>A	uc010jza.1	-	3	563	c.560G>T	c.(559-561)AGG>ATG	p.R187M	SPATS1_uc003oxg.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	187					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CCAGATGTCCCTGGTCTCCAG	0.552													A	44279148	C	A	44279148	3	1	27	1	0	0	0	0	1	0	0	0	20	681	24	5	2477	5	AARS2	6	44279148	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	8111	44279148	126835919	3214	27165											
SPATS1	221409	broad.mit.edu	37	chr6	44320601	44320601	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcctccccagagtgtctgCttacgtagagtaagtaaggg	13	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:44320601C>A	uc003oxk.2	+	2	625	c.278C>A	c.(277-279)GCT>GAT	p.A93D	SPATS1_uc003oxg.2_RNA|SPATS1_uc010jzb.2_5'UTR	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	93										skin(1)	1	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGAGTGTCTGCTTACGTAGAG	0.473													A	44320601	C	A	44320601	3	1	27	1	0	0	0	0	1	0	0	0	15017	797	28	5	284	5	SPATS1	6	44320601	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	41453	44320601	126794466	3215	27166											
CDC5L	988	broad.mit.edu	37	chr6	44371587	44371587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagagaacttcgagcagCtggcatagaaattcagaaga	11	6	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:44371587C>T	uc003oxl.2	+	6	840	c.581C>T	c.(580-582)GCT>GTT	p.A194V		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	194	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTTCGAGCAGCTGGCATAGAA	0.373													T	44371587	C	T	44371587	3	4	27	1	0	0	0	0	1	0	0	0	3082	797	28	2	603	2	CDC5L	6	44371587	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	50986	44371587	126743480	3216	27167											
RUNX2	860	broad.mit.edu	37	chr6	45514701	45514701	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccagtcacctcaggcatgTccctcggtatgtccgccacc	9	18	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:45514701T>C	uc011dvx.1	+	9	1435	c.1225T>C	c.(1225-1227)TCC>CCC	p.S409P	RUNX2_uc011dvy.1_Missense_Mutation_p.S387P|RUNX2_uc003oxt.2_Missense_Mutation_p.S395P	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	runt-related transcription factor 2 isoform a	409	Interaction with MYST3 (By similarity).|Pro/Ser/Thr-rich.|Interaction with MYST4.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3						CTCAGGCATGTCCCTCGGTAT	0.587													C	45514701	T	C	45514701	3	2	27	1	0	0	0	0	1	0	0	0	13748	1667	58	3	1271	3	RUNX2	6	45514701	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1143114	45514701	125600366	3217	27168											
CLIC5	53405	broad.mit.edu	37	chr6	45917038	45917038	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaactcctcgatcttattgAcgtctgtcttcacgtccccg	8	14	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:45917038A>T	uc003oxv.3	-	3	837	c.731T>A	c.(730-732)GTC>GAC	p.V244D	CLIC5_uc003oxu.3_Missense_Mutation_p.V85D|CLIC5_uc003oxx.2_Missense_Mutation_p.V85D	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5 isoform a	244					female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			ovary(1)|skin(1)	2						GATCTTATTGACGTCTGTCTT	0.537													T	45917038	A	T	45917038	3	4	27	1	0	0	0	0	1	0	0	0	3529	275	10	5	517	5	CLIC5	6	45917038	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	402337	45917038	125198029	3218	27169											
ENPP5	59084	broad.mit.edu	37	chr6	46129477	46129477	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctgctaacgcattatcgtaAccgtggttgcctactgtaaa	8	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:46129477A>T	uc003oxz.1	-	4	1228	c.1020T>A	c.(1018-1020)GGT>GGA	p.G340G	ENPP5_uc003oya.1_Silent_p.G340G|ENPP5_uc011dvz.1_Silent_p.G246G|ENPP5_uc010jzc.1_Missense_Mutation_p.L342I	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	340						extracellular region|integral to membrane	hydrolase activity				0						CATTATCGTAACCGTGGTTGC	0.358													T	46129477	A	T	46129477	2	4	27	1	0	0	0	0	0	0	0	1	5133	30	2	5		5	ENPP5	6	46129477	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	212439	46129477	124985590	3219	27170											
TDRD6	221400	broad.mit.edu	37	chr6	46658498	46658498	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttctgaaggttaaggcacAggcttttaggtgcagtcttt	11	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:46658498A>G	uc003oyj.2	+	1	2633	c.2633A>G	c.(2632-2634)CAG>CGG	p.Q878R	TDRD6_uc010jze.2_Missense_Mutation_p.Q872R	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	878					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			GTTAAGGCACAGGCTTTTAGG	0.338													G	46658498	A	G	46658498	3	3	27	1	0	0	0	0	1	0	0	0	15731	188	7	3	2635	3	TDRD6	6	46658498	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	529021	46658498	124456569	3220	27171											
TDRD6	221400	broad.mit.edu	37	chr6	46658994	46658994	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaaccttgtgccttgccaaGtatactgatggaaactggta	11	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:46658994G>T	uc003oyj.2	+	1	3129	c.3129G>T	c.(3127-3129)AAG>AAT	p.K1043N	TDRD6_uc010jze.2_Missense_Mutation_p.K1037N	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1043	Tudor 5.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			GCCTTGCCAAGTATACTGATG	0.343													T	46658994	G	T	46658994	3	4	27	1	0	0	0	0	1	0	0	0	15731	1020	36	5	3131	5	TDRD6	6	46658994	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	496	46658994	124456073	3221	27172											
GPR116	221395	broad.mit.edu	37	chr6	46821794	46821794	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggttgcttctggggtggAaacattatacgttcctgaaa	12	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:46821794A>G	uc003oyo.3	-	21	4265	c.3976T>C	c.(3976-3978)TCC>CCC	p.S1326P	GPR116_uc011dwj.1_Missense_Mutation_p.S881P|GPR116_uc011dwk.1_3'UTR|GPR116_uc003oyp.3_Missense_Mutation_p.S1184P|GPR116_uc003oyq.3_Missense_Mutation_p.S1326P	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	1326	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			TCTGGGGTGGAAACATTATAC	0.507													G	46821794	A	G	46821794	3	3	27	1	0	0	0	0	1	0	0	0	6633	246	9	3	68	3	GPR116	6	46821794	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	162800	46821794	124293273	3222	27173											
GPR116	221395	broad.mit.edu	37	chr6	46827202	46827202	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtccattgctgttgtaaaAccttccaggtgttcaagacg	10	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:46827202A>C	uc003oyo.3	-	17	2727	c.2438T>G	c.(2437-2439)GTT>GGT	p.V813G	GPR116_uc011dwj.1_Missense_Mutation_p.V368G|GPR116_uc011dwk.1_Missense_Mutation_p.V242G|GPR116_uc003oyp.3_Missense_Mutation_p.V671G|GPR116_uc003oyq.3_Missense_Mutation_p.V813G|GPR116_uc010jzi.1_Missense_Mutation_p.V485G	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	813	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			CTGTTGTAAAACCTTCCAGGT	0.448													C	46827202	A	C	46827202	3	2	27	1	0	0	0	0	1	0	0	0	6633	43	2	5	1622	5	GPR116	6	46827202	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	5408	46827202	124287865	3223	27174											
GPR116	221395	broad.mit.edu	37	chr6	46851907	46851907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtgccctgggaggaagaCgtcacgctcttgacaaatga	13	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:46851907C>T	uc003oyo.3	-	5	719	c.430G>A	c.(430-432)GTC>ATC	p.V144I	GPR116_uc003oyp.3_Missense_Mutation_p.V144I|GPR116_uc003oyq.3_Missense_Mutation_p.V144I|GPR116_uc003oyr.2_Missense_Mutation_p.V144I	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	144	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			GGGAGGAAGACGTCACGCTCT	0.502													T	46851907	C	T	46851907	3	4	27	1	0	0	0	0	1	0	0	0	6633	536	19	1	3678	1	GPR116	6	46851907	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	24705	46851907	124263160	3224	27175											
GPR110	266977	broad.mit.edu	37	chr6	46977420	46977420	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cataggtgatccattttacaAcggggaagattgtagagggg	14	5	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:46977420A>G	uc003oyt.2	-	11	1950	c.1751T>C	c.(1750-1752)GTT>GCT	p.V584A	GPR110_uc011dwl.1_Missense_Mutation_p.V272A	NM_153840	NP_722582	Q5T601	GP110_HUMAN	G-protein coupled receptor 110 isoform 1	584	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|pancreas(1)	3						CCATTTTACAACGGGGAAGAT	0.428													G	46977420	A	G	46977420	3	3	27	1	0	0	0	0	1	0	0	0	6627	43	2	3	1001	3	GPR110	6	46977420	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	125513	46977420	124137647	3225	27176											
TNFRSF21	27242	broad.mit.edu	37	chr6	47254265	47254265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcacggtcaacatggcGgtatgtgccaatgagattcg	15	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:47254265G>A	uc003oyv.2	-	2	596	c.163C>T	c.(163-165)CGC>TGC	p.R55C		NM_014452	NP_055267	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily,	55	Extracellular (Potential).|TNFR-Cys 1.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity				0			Lung(136;0.189)			TCAACATGGCGGTATGTGCCA	0.532													A	47254265	G	A	47254265	3	1	27	1	0	0	0	0	1	0	0	0	16292	1116	39	1	1824	1	TNFRSF21	6	47254265	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	276845	47254265	123860802	3226	27177											
GPR115	221393	broad.mit.edu	37	chr6	47675983	47675983	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagataaacttcaaagcccTgaagggaaacccaagactgg	11	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:47675983T>C	uc003oza.1	+	3	375	c.117T>C	c.(115-117)CCT>CCC	p.P39P	GPR115_uc003oyz.1_Silent_p.P96P|GPR115_uc003ozb.1_Silent_p.P37P	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115 precursor	39	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						TTCAAAGCCCTGAAGGGAAAC	0.448													C	47675983	T	C	47675983	2	2	27	1	0	0	0	0	0	0	0	1	6632	1567	55	3		3	GPR115	6	47675983	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	421718	47675983	123439084	3227	27178											
CENPQ	55166	broad.mit.edu	37	chr6	49437952	49437952	+	Frame_Shift_Del	DEL	A	A	-													ttaaaaagaaatccaaagagAaaaaaggataatgaggaagt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:49437951_49437951GA>G	uc003ozh.1	+	1	151	c.62_62GA>G	c.(61-63)agafs	p.R21fs		NM_018132	NP_060602	Q7L2Z9	CENPQ_HUMAN	Homo sapiens centromere protein Q (CENPQ), mRNA.	21					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					AATCCAAAGAGAAAAAAGGAT	0.333													-	49437952	A	-	49437952	7	5	27	1	0	1	0	1	0	0	0	0	3241	243	9	0	65	0	CENPQ	6	49437952	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	1761969	49437952	121677115	3228	27179											
CRISP2	7180	broad.mit.edu	37	chr6	49676859	49676859	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacctttccttctgcaggTaaagatggaagcagcacagt	9	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:49676859T>C	uc003ozq.2	-	4	307	c.51A>G	c.(49-51)TTA>TTG	p.L17L	CRISP2_uc003ozl.2_Silent_p.L17L|CRISP2_uc003ozn.2_Silent_p.L17L|CRISP2_uc003ozr.2_Silent_p.L17L|CRISP2_uc003ozo.2_Silent_p.L17L|CRISP2_uc003ozm.2_Silent_p.L17L|CRISP2_uc003ozp.2_Silent_p.L17L	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2 precursor	17						extracellular space				skin(1)	1	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTTCTGCAGGTAAAGATGGAA	0.403													C	49676859	T	C	49676859	2	2	27	1	0	0	0	0	0	0	0	1	3880	1635	57	3		3	CRISP2	6	49676859	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	238907	49676859	121438208	3229	27180											
DEFB112	245915	broad.mit.edu	37	chr6	50016322	50016323	+	Frame_Shift_Ins	INS	-	-	T													gtatttgtctttgagtacatINStttttcaagtttcagtctac							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:50016321_50016322A>AT	uc011dws.2	-	0	43_44	c.43_44T>AT	c.(43-45)atgfs	p.M15fs		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	Homo sapiens defensin, beta 112 (DEFB112), mRNA.	15					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					CTTTGAGTACATTTTTTCAAGT	0.322													T	50016323	-	T	50016322	7	5	27	1	0	1	1	0	0	0	0	0	4401	1493	52	0	305	0	DEFB112	6	50016322	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	339463	50016322	121098745	3230	27181											
TFAP2D	83741	broad.mit.edu	37	chr6	50681799	50681799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctttccgggactagtccacGatgccgaggtattattactt	9	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:50681799G>A	uc003paf.2	+	1	543	c.31G>A	c.(31-33)GAT>AAT	p.D11N	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	11							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)					ACTAGTCCACGATGCCGAGGT	0.323													A	50681799	G	A	50681799	3	1	27	1	0	0	0	0	1	0	0	0	15787	1058	37	1	33	1	TFAP2D	6	50681799	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	665477	50681799	120433268	3231	27182											
TFAP2B	7021	broad.mit.edu	37	chr6	50796364	50796364	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccaataacagcggcatgaaTctattggaccagtctgtcat	9	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:50796364T>A	uc003pag.2	+	3	739	c.573T>A	c.(571-573)AAT>AAA	p.N191K		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	191					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					GCGGCATGAATCTATTGGACC	0.333													A	50796364	T	A	50796364	3	1	27	1	0	0	0	0	1	0	0	0	15785	1432	50	5	583	5	TFAP2B	6	50796364	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	114565	50796364	120318703	3232	27183											
PKHD1	5314	broad.mit.edu	37	chr6	51619589	51619589	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaaagccttaccaatatgCcggtgtttgagccgttcata	8	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:51619589C>T	uc003pah.1	-	56	9066	c.8790G>A	c.(8788-8790)CGG>CGA	p.R2930R	PKHD1_uc010jzn.1_Silent_p.R913R|PKHD1_uc003pai.2_Silent_p.R2930R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2930	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TACCAATATGCCGGTGTTTGA	0.478													T	51619589	C	T	51619589	2	4	27	1	0	0	0	0	0	0	0	1	11971	726	26	2		2	PKHD1	6	51619589	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	823225	51619589	119495478	3233	27184											
PKHD1	5314	broad.mit.edu	37	chr6	51897950	51897950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacagtcacattcacaatgCgtccatctttcccctgaaaa	4	14	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:51897950C>T	uc003pah.1	-	29	3518	c.3242G>A	c.(3241-3243)CGC>CAC	p.R1081H	PKHD1_uc003pai.2_Missense_Mutation_p.R1081H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1081	IPT/TIG 5.|Extracellular (Potential).		R -> C (in a colorectal cancer sample; somatic mutation).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.R1081C(1)		lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					ATTCACAATGCGTCCATCTTT	0.363													T	51897950	C	T	51897950	3	4	27	1	0	0	0	0	1	0	0	0	11971	768	27	1	9177	1	PKHD1	6	51897950	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	278361	51897950	119217117	3234	27185											
EFHC1	114327	broad.mit.edu	37	chr6	52334208	52334208	+	Frame_Shift_Del	DEL	A	A	-													gctctcattccaaaagctccAaaaaaagacgttattaaaat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:52334207_52334207CA>C	uc003pap.4	+	6	1429	c.1214_1214CA>C	c.(1213-1215)ccafs	p.P405fs	EFHC1_uc011dwv.1_Frame_Shift_Del_p.P314fs|EFHC1_uc011dww.2_Frame_Shift_Del_p.P386fs	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.	405						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					CCAAAAGCTCCAAAAAAAGAC	0.373													-	52334208	A	-	52334208	7	5	27	1	0	1	0	1	0	0	0	0	4946	117	5	0	1251	0	EFHC1	6	52334208	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	436258	52334208	118780859	3235	27186											
ELOVL5	60481	broad.mit.edu	37	chr6	53134010	53134010	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattcacagcagccatggacCcattctggtggtccttcagg	10	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:53134010C>A	uc003pbq.1	-	8	1263	c.815G>T	c.(814-816)GGG>GTG	p.G272V	ELOVL5_uc003pbr.1_Missense_Mutation_p.G272V|ELOVL5_uc011dwx.1_Missense_Mutation_p.G299V|ELOVL5_uc003pbs.1_Missense_Mutation_p.W230C	NM_021814	NP_068586	Q9NYP7	ELOV5_HUMAN	elongation of very long chain fatty acids-like	272					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0	Lung NSC(77;0.116)					AGCCATGGACCCATTCTGGTG	0.478													A	53134010	C	A	53134010	3	1	27	1	0	0	0	0	1	0	0	0	5077	623	22	5	88	5	ELOVL5	6	53134010	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	799802	53134010	117981057	3236	27187											
KLHL31	401265	broad.mit.edu	37	chr6	53519514	53519515	+	Frame_Shift_Ins	INS	-	-	T													ctgggctgctgcttttgcatINStttttagggagtatgtttca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:53519513_53519514A>AT	uc003pcb.4	-	1	698_699	c.557_558T>AT	c.(556-558)aatfs	p.N186fs		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	186	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CTGCTTTTGCATTTTTTAGGGA	0.347													T	53519515	-	T	53519514	7	5	27	1	0	1	1	0	0	0	0	0	8385	1493	52	0	1355	0	KLHL31	6	53519514	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	385504	53519514	117595553	3237	27188											
KLHL31	401265	broad.mit.edu	37	chr6	53519830	53519830	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaacatcaaaggatttggTtttggtaccaatgactaagt	9	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:53519830T>G	uc003pcb.3	-	2	382	c.241A>C	c.(241-243)ACC>CCC	p.T81P		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	kelch repeat and BTB (POZ) domain containing 1	81	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					ovary(1)	1	Lung NSC(77;0.0158)					AAGGATTTGGTTTTGGTACCA	0.403													G	53519830	T	G	53519830	3	3	27	1	0	0	0	0	1	0	0	0	8385	1725	60	5	1671	5	KLHL31	6	53519830	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	316	53519830	117595237	3238	27189											
LRRC1	55227	broad.mit.edu	37	chr6	53784454	53784454	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acttcctcagctgccttctgAacctacttgtcaaggtgaat	7	12	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:53784454A>C	uc003pcd.1	+	12	1542	c.1265A>C	c.(1264-1266)GAA>GCA	p.E422A		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	422						cytoplasm|membrane				ovary(1)	1	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CTGCCTTCTGAACCTACTTGT	0.463													C	53784454	A	C	53784454	3	2	27	1	0	0	0	0	1	0	0	0	8966	246	9	5	1311	5	LRRC1	6	53784454	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	264624	53784454	117330613	3239	27190											
C6orf142	90523	broad.mit.edu	37	chr6	53989479	53989479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggaagatgaggctgcaaGcagaaaagttgaacaaggcc	15	6	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:53989479G>A	uc003pcg.3	+	3	541	c.428G>A	c.(427-429)AGC>AAC	p.S143N	C6orf142_uc003pcf.2_Missense_Mutation_p.S143N|C6orf142_uc003pch.3_Missense_Mutation_p.S81N|C6orf142_uc011dwz.1_Missense_Mutation_p.S102N|C6orf142_uc011dxa.1_Missense_Mutation_p.S154N	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	hypothetical protein LOC90523	143						nuclear envelope|PML body	protein binding				0	Lung NSC(77;0.0317)					GAGGCTGCAAGCAGAAAAGTT	0.517													A	53989479	G	A	53989479	3	1	27	1	0	0	0	0	1	0	0	0	2333	971	34	2	438	2	C6orf142	6	53989479	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	205025	53989479	117125588	3240	27191											
FAM83B	222584	broad.mit.edu	37	chr6	54804674	54804674	+	Frame_Shift_Del	DEL	A	A	-													gcatggaaaagccctctgggAaaatggcacttaccagcatt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:54804673_54804673GA>G	uc003pck.3	+	4	1020	c.904_904GA>G	c.(904-906)gaafs	p.E302fs		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	302										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGCCCTCTGGGAAAATGGCAC	0.428													-	54804674	A	-	54804674	7	5	27	1	0	1	0	1	0	0	0	0	5634	246	9	0	919	0	FAM83B	6	54804674	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	815195	54804674	116310393	3241	27192											
FAM83B	222584	broad.mit.edu	37	chr6	54806068	54806068	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagttaagggttccccaagtTttttgaaaaaggggtctcag	11	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:54806068T>G	uc003pck.2	+	5	2415	c.2299T>G	c.(2299-2301)TTT>GTT	p.F767V		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	767										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					TTCCCCAAGTTTTTTGAAAAA	0.353													G	54806068	T	G	54806068	3	3	27	1	0	0	0	0	1	0	0	0	5634	1841	64	5	2313	5	FAM83B	6	54806068	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1394	54806068	116308999	3242	27193											
COL21A1	81578	broad.mit.edu	37	chr6	56044520	56044520	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaccaacaccaatagcaaAtaatgttatcttactatctc	3	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:56044520A>G	uc003pcs.2	-	3	728	c.496T>C	c.(496-498)TTT>CTT	p.F166L	COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.F166L|COL21A1_uc003pcu.1_Missense_Mutation_p.F166L	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	166	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCAATAGCAAATAATGTTATC	0.408													G	56044520	A	G	56044520	3	3	27	1	0	0	0	0	1	0	0	0	3680	101	4	3	2489	3	COL21A1	6	56044520	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1238452	56044520	115070547	3243	27194											
DST	667	broad.mit.edu	37	chr6	56354379	56354379	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgactcttctagccacTccataagtttactccaagct	4	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:56354379T>C	uc003pdf.2	-	80	14457	c.14429A>G	c.(14428-14430)GAG>GGG	p.E4810G	DST_uc003pcz.3_Missense_Mutation_p.E4632G|DST_uc011dxj.1_Missense_Mutation_p.E4661G|DST_uc011dxk.1_Missense_Mutation_p.E4672G|DST_uc003pcy.3_Missense_Mutation_p.E4306G|DST_uc003pda.3_Missense_Mutation_p.E2G	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6718	Spectrin 18.				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)			TTCTAGCCACTCCATAAGTTT	0.358													C	56354379	T	C	56354379	3	2	27	1	0	0	0	0	1	0	0	0	4783	1551	54	3	2670	3	DST	6	56354379	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	309859	56354379	114760688	3244	27195											
DST	667	broad.mit.edu	37	chr6	56376047	56376049	+	In_Frame_Del	DEL	TCT	TCT	-													ccacagcacgctttttgacaTcttctttaatttgactgtaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:56376047_56376049delTCT	uc003pdf.2	-	67	12397_12399	c.12369_12371delAGA	c.(12367-12372)GAAGAT>GAT	p.E4123del	DST_uc003pcz.3_In_Frame_Del_p.E3945del|DST_uc011dxj.1_In_Frame_Del_p.E3974del|DST_uc011dxk.1_In_Frame_Del_p.E3985del|DST_uc003pcy.3_In_Frame_Del_p.E3619del	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6031	Spectrin 11.				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)			CTTTTTGACATCTTCTTTAATTT	0.433													-	56376049	TCT	-	56376047	7	5	27	1	0	1	0	1	0	0	0	0	4783	1435	50	0	4780	0	DST	6	56376047	In_Frame_Del	DEL	TCT	TCGA-BR-6452-01A-12D-1800-08	21668	56376047	114739020	3245	27196											
DST	667	broad.mit.edu	37	chr6	56417167	56417167	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgggctcggtccagtaactTgttgcattgtttgcttaagg	12	7	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:56417167T>C	uc003pdf.2	-	55	10094	c.10066A>G	c.(10066-10068)AAG>GAG	p.K3356E	DST_uc003pcz.3_Missense_Mutation_p.K3178E|DST_uc011dxj.1_Missense_Mutation_p.K3207E|DST_uc011dxk.1_Missense_Mutation_p.K3218E|DST_uc003pcy.3_Missense_Mutation_p.K2852E	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5264					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)			TCCAGTAACTTGTTGCATTGT	0.428													C	56417167	T	C	56417167	3	2	27	1	0	0	0	0	1	0	0	0	4783	1821	63	3	7133	3	DST	6	56417167	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	41120	56417167	114697900	3246	27197											
DST	667	broad.mit.edu	37	chr6	56437713	56437713	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagtttctttgtgtttatgActtgcttctgaaaaccgagc	9	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:56437713A>G	uc003pdf.2	-	46	7057	c.7029T>C	c.(7027-7029)AGT>AGC	p.S2343S	DST_uc003pcz.3_Silent_p.S2165S|DST_uc011dxj.1_Silent_p.S2194S|DST_uc011dxk.1_Silent_p.S2205S|DST_uc003pcy.3_Silent_p.S1839S|DST_uc010kaa.1_RNA	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	4251					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)			TGTGTTTATGACTTGCTTCTG	0.378													G	56437713	A	G	56437713	2	3	27	1	0	0	0	0	0	0	0	1	4783	272	10	3		3	DST	6	56437713	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	20546	56437713	114677354	3247	27198											
DST	667	broad.mit.edu	37	chr6	56819348	56819348	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagggcacattggatgctgTagggtctcagcaagacgagg	16	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:56819348T>C	uc003pdf.2	-	1	66	c.38A>G	c.(37-39)TAC>TGC	p.Y13C	BEND6_uc010kab.2_5'Flank|BEND6_uc003pdg.2_5'Flank	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)			TTGGATGCTGTAGGGTCTCAG	0.657													C	56819348	T	C	56819348	3	2	27	1	0	0	0	0	1	0	0	0	4783	1653	57	3		3	DST	6	56819348	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	381635	56819348	114295719	3248	27199											
BEND6	221336	broad.mit.edu	37	chr6	56880075	56880075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattcatttgcctcaacatGcagtaattctaattctaact	4	9	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:56880075G>A	uc010kab.2	+	4	1029	c.443G>A	c.(442-444)TGC>TAC	p.C148Y	BEND6_uc003pdi.3_Missense_Mutation_p.C50Y	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	148											0						GCCTCAACATGCAGTAATTCT	0.473													A	56880075	G	A	56880075	3	1	27	1	0	0	0	0	1	0	0	0	1402	1319	46	2	453	2	BEND6	6	56880075	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	60727	56880075	114234992	3249	27200											
KIAA1586	57691	broad.mit.edu	37	chr6	56918985	56918985	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatcaaacgtaccataagagCtttggaaaatttaaaaattg	7	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:56918985C>A	uc003pdj.2	+	4	1858	c.1688C>A	c.(1687-1689)GCT>GAT	p.A563D	KIAA1586_uc011dxm.1_Missense_Mutation_p.A536D	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	hypothetical protein LOC57691	563							nucleic acid binding				0	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ACCATAAGAGCTTTGGAAAAT	0.269													A	56918985	C	A	56918985	3	1	27	1	0	0	0	0	1	0	0	0	8245	797	28	5	1702	5	KIAA1586	6	56918985	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	38910	56918985	114196082	3250	27201											
ZNF451	26036	broad.mit.edu	37	chr6	57015643	57015643	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatctaaaccaaggaacatTtatttggggctttcaaggta	9	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:57015643T>C	uc003pdm.1	+	11	2959	c.2735T>C	c.(2734-2736)TTT>TCT	p.F912S	ZNF451_uc003pdl.2_Missense_Mutation_p.F912S|ZNF451_uc003pdn.1_Intron|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.F912S	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	912					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CAAGGAACATTTATTTGGGGC	0.353													C	57015643	T	C	57015643	3	2	27	1	0	0	0	0	1	0	0	0	17919	1841	64	3	2777	3	ZNF451	6	57015643	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	96658	57015643	114099424	3251	27202											
LGSN	51557	broad.mit.edu	37	chr6	63990621	63990621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggtaaatgcattatcagCtgagctaatgccaaattcag	10	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:63990621C>T	uc003peh.2	-	4	869	c.835G>A	c.(835-837)GCT>ACT	p.A279T	LGSN_uc003pei.2_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	279					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(2)	2					L-Glutamic Acid(DB00142)	GCATTATCAGCTGAGCTAATG	0.438													T	63990621	C	T	63990621	3	4	27	1	0	0	0	0	1	0	0	0	8759	797	28	2	698	2	LGSN	6	63990621	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6974978	63990621	107124446	3252	27203											
LGSN	51557	broad.mit.edu	37	chr6	63995646	63995646	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtcaaaatttgactgctgTccctcatgcaatctgcaaaa	8	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:63995646T>C	uc003peh.2	-	3	210	c.176A>G	c.(175-177)GAC>GGC	p.D59G	LGSN_uc003pei.2_Missense_Mutation_p.D59G|LGSN_uc003pej.1_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	59					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(2)	2					L-Glutamic Acid(DB00142)	TTGACTGCTGTCCCTCATGCA	0.403													C	63995646	T	C	63995646	3	2	27	1	0	0	0	0	1	0	0	0	8759	1667	58	3	1361	3	LGSN	6	63995646	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	5025	63995646	107119421	3253	27204											
PTP4A1	7803	broad.mit.edu	37	chr6	64286857	64286857	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agatttcttattacacacaaTccaaccaatgcgaccttaaa	3	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:64286857T>A	uc003pek.2	+	4	1058	c.72T>A	c.(70-72)AAT>AAA	p.N24K	PTP4A1_uc003pel.2_Missense_Mutation_p.N24K	NM_003463	NP_003454	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1	24					cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity				0	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			TTACACACAATCCAACCAATG	0.338													A	64286857	T	A	64286857	3	1	27	1	0	0	0	0	1	0	0	0	12770	1432	50	5	74	5	PTP4A1	6	64286857	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	291211	64286857	106828210	3254	27205											
PTP4A1	7803	broad.mit.edu	37	chr6	64288363	64288363	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacttaagaagtatggagttAccacaatagtaagagtatgt	9	4	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:64288363A>G	uc003pek.2	+	5	1113	c.127A>G	c.(127-129)ACC>GCC	p.T43A	PTP4A1_uc003pel.2_Missense_Mutation_p.T43A	NM_003463	NP_003454	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1	43					cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity				0	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			GTATGGAGTTACCACAATAGT	0.313													G	64288363	A	G	64288363	3	3	27	1	0	0	0	0	1	0	0	0	12770	391	14	3	133	3	PTP4A1	6	64288363	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1506	64288363	106826704	3255	27206											
PHF3	23469	broad.mit.edu	37	chr6	64422823	64422823	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaatttccttctaaaagcaTcacctttacttccagaagca	4	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:64422823T>A	uc003pep.1	+	15	5365	c.5339T>A	c.(5338-5340)ATC>AAC	p.I1780N	PHF3_uc003pen.2_Missense_Mutation_p.I1692N|PHF3_uc011dxs.1_Missense_Mutation_p.I1049N	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1780					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TCTAAAAGCATCACCTTTACT	0.453													A	64422823	T	A	64422823	3	1	27	1	0	0	0	0	1	0	0	0	11836	1435	50	5	5397	5	PHF3	6	64422823	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	134460	64422823	106692244	3256	27207											
EYS	346007	broad.mit.edu	37	chr6	66115115	66115115	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgacatggtactaatgaAaactcactgacatcagtttc	6	9	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:66115115A>G	uc011dxu.1	-	6	1546	c.1008T>C	c.(1006-1008)TTT>TTC	p.F336F	EYS_uc003peq.2_Silent_p.F336F|EYS_uc003per.1_Silent_p.F336F	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	336	EGF-like 4.				response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						GTACTAATGAAAACTCACTGA	0.333													G	66115115	A	G	66115115	2	3	27	1	0	0	0	0	0	0	0	1	5332	11	1	3		3	EYS	6	66115115	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1692292	66115115	104999952	3257	27208											
BAI3	577	broad.mit.edu	37	chr6	69703697	69703697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaggggcagcgaatgctggCaggtgatggaatgtcccagg	17	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:69703697C>T	uc003pev.3	+	11	2220	c.1772C>T	c.(1771-1773)GCA>GTA	p.A591V	BAI3_uc010kak.2_Missense_Mutation_p.A591V	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	591	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				CGAATGCTGGCAGGTGATGGA	0.423													T	69703697	C	T	69703697	3	4	27	1	0	0	0	0	1	0	0	0	1300	710	25	2	1806	2	BAI3	6	69703697	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3588582	69703697	101411370	3258	27209											
BAI3	577	broad.mit.edu	37	chr6	69758078	69758078	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attatttcttttttaatagtGgctagtattcagaagcttcc	6	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:69758078G>C	uc003pev.3	+	14	2557	c.2109G>C	c.(2107-2109)GTG>GTC	p.V703V	BAI3_uc010kak.2_Silent_p.V703V	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	703	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TTTTAATAGTGGCTAGTATTC	0.338													C	69758078	G	C	69758078	2	2	27	1	0	0	0	0	0	0	0	1	1300	1362	47	5		5	BAI3	6	69758078	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	54381	69758078	101356989	3259	27210											
BAI3	577	broad.mit.edu	37	chr6	70064145	70064145	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcaggatgcatttagatgCcgattgagaaactgtcagga	12	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:70064145C>T	uc003pev.3	+	27	3928	c.3480C>T	c.(3478-3480)TGC>TGT	p.C1160C	BAI3_uc010kak.2_Silent_p.C1160C|BAI3_uc011dxx.1_Silent_p.C366C	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1160	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				CATTTAGATGCCGATTGAGAA	0.418													T	70064145	C	T	70064145	2	4	27	1	0	0	0	0	0	0	0	1	1300	747	26	2		2	BAI3	6	70064145	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	306067	70064145	101050922	3260	27211											
LMBRD1	55788	broad.mit.edu	37	chr6	70409017	70409017	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctagtgtgaaggacaataAgcagaagtatcatgcagaga	12	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:70409017A>G	uc003pfa.2	-	13	1371	c.1256T>C	c.(1255-1257)CTT>CCT	p.L419P	LMBRD1_uc003pey.2_Missense_Mutation_p.L215P|LMBRD1_uc003pez.2_Missense_Mutation_p.L346P|LMBRD1_uc010kal.2_Missense_Mutation_p.L346P|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	419	Helical; Name=8; (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1						AAGGACAATAAGCAGAAGTAT	0.353													G	70409017	A	G	70409017	3	3	27	1	0	0	0	0	1	0	0	0	8842	72	3	3	382	3	LMBRD1	6	70409017	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	344872	70409017	100706050	3261	27212											
LMBRD1	55788	broad.mit.edu	37	chr6	70462228	70462228	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatccagaagaacacacagaAcaatataacagaatataaag	6	7	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:70462228A>G	uc003pfa.2	-	4	443	c.328T>C	c.(328-330)TTC>CTC	p.F110L	LMBRD1_uc003pez.2_Missense_Mutation_p.F37L|LMBRD1_uc010kal.2_Missense_Mutation_p.F37L|LMBRD1_uc003pfb.2_Intron	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	110	Helical; Name=3; (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1						AACACACAGAACAATATAACA	0.279													G	70462228	A	G	70462228	3	3	27	1	0	0	0	0	1	0	0	0	8842	43	2	3	1346	3	LMBRD1	6	70462228	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	53211	70462228	100652839	3262	27213											
COL19A1	1310	broad.mit.edu	37	chr6	70744135	70744135	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attggttatattctttctacAgggtttgaaaggtgacttgg	11	4	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:70744135A>C	uc003pfc.1	+	13	1198	c.1081_splice	c.e13-2	p.G361_splice	COL19A1_uc010kam.1_Splice_Site_p.G257_splice	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor						cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						TTCTTTCTACAGGGTTTGAAA	0.373													C	70744135	A	C	70744135	5	2	27	1	0	0	0	0	0	0	1	0	3676	202	7	5	1125	5	COL19A1	6	70744135	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	281907	70744135	100370932	3263	27214											
OGFRL1	79627	broad.mit.edu	37	chr6	72006048	72006048	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgaagaagttctaagtaaAtggaaaggagattatgaaaa	10	1	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:72006048A>G	uc003pfx.1	+	4	592	c.429A>G	c.(427-429)AAA>AAG	p.K143K		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	143						membrane	receptor activity				0						TTCTAAGTAAATGGAAAGGAG	0.303													G	72006048	A	G	72006048	2	3	27	1	0	0	0	0	0	0	0	1	10844	98	4	3		3	OGFRL1	6	72006048	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1261913	72006048	99109019	3264	27215											
OGFRL1	79627	broad.mit.edu	37	chr6	72011643	72011643	+	Frame_Shift_Del	DEL	A	A	-													aacagttactactcccacagAaaaaaaggagagtgtatctc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:72011642_72011642GA>G	uc003pfx.1	+	6	1409	c.1246_1246GA>G	c.(1246-1248)gaafs	p.E416fs		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	Homo sapiens opioid growth factor receptor-like 1 (OGFRL1), mRNA.	416						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TACTCCCACAGAAAAAAAGGA	0.398													-	72011643	A	-	72011643	7	5	27	1	0	1	0	1	0	0	0	0	10844	246	9	0	1273	0	OGFRL1	6	72011643	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	5595	72011643	99103424	3265	27216											
RIMS1	22999	broad.mit.edu	37	chr6	72960976	72960976	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accgcattggtataaacttcAgacacatgatgagtcttcac	7	10	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:72960976A>G	uc003pga.2	+	15	2680	c.2603A>G	c.(2602-2604)CAG>CGG	p.Q868R	RIMS1_uc011dyb.1_Missense_Mutation_p.Q494R|RIMS1_uc003pgc.2_Missense_Mutation_p.Q494R|RIMS1_uc010kaq.2_Missense_Mutation_p.Q342R|RIMS1_uc011dyc.1_Missense_Mutation_p.Q342R|RIMS1_uc010kar.2_Missense_Mutation_p.Q261R|RIMS1_uc011dyd.1_Missense_Mutation_p.Q327R|RIMS1_uc003pgf.2_Missense_Mutation_p.Q85R|RIMS1_uc003pgg.2_Missense_Mutation_p.Q85R|RIMS1_uc003pgi.2_Missense_Mutation_p.Q85R|RIMS1_uc003pgh.2_Missense_Mutation_p.Q85R|RIMS1_uc003pgd.2_Missense_Mutation_p.Q85R|RIMS1_uc003pge.2_Missense_Mutation_p.Q85R|RIMS1_uc011dye.1_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.Q494R|RIMS1_uc010kas.1_Missense_Mutation_p.Q327R	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	868					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TATAAACTTCAGACACATGAT	0.408													G	72960976	A	G	72960976	3	3	27	1	0	0	0	0	1	0	0	0	13367	188	7	3	2824	3	RIMS1	6	72960976	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	949333	72960976	98154091	3266	27217											
KCNQ5	56479	broad.mit.edu	37	chr6	73904299	73904299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttttgaatgtgaacagaCatctgactatcaaagccctg	7	10	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:73904299C>T	uc003pgk.2	+	14	2308	c.1961C>T	c.(1960-1962)ACA>ATA	p.T654I	KCNQ5_uc011dyh.1_Missense_Mutation_p.T673I|KCNQ5_uc011dyi.1_Missense_Mutation_p.T664I|KCNQ5_uc010kat.2_Missense_Mutation_p.T645I|KCNQ5_uc011dyj.1_Missense_Mutation_p.T544I|KCNQ5_uc011dyk.1_Missense_Mutation_p.T404I	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	654					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGTGAACAGACATCTGACTAT	0.493													T	73904299	C	T	73904299	3	4	27	1	0	0	0	0	1	0	0	0	8086	478	17	4	2076	4	KCNQ5	6	73904299	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	943323	73904299	97210768	3267	27218											
KCNQ5	56479	broad.mit.edu	37	chr6	73904338	73904338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtggatagcaaagatctttCgggttccgcacaaaacagtg	11	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:73904338C>T	uc003pgk.2	+	14	2347	c.2000C>T	c.(1999-2001)TCG>TTG	p.S667L	KCNQ5_uc011dyh.1_Missense_Mutation_p.S686L|KCNQ5_uc011dyi.1_Missense_Mutation_p.S677L|KCNQ5_uc010kat.2_Missense_Mutation_p.S658L|KCNQ5_uc011dyj.1_Missense_Mutation_p.S557L|KCNQ5_uc011dyk.1_Missense_Mutation_p.S417L	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	667					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AAAGATCTTTCGGGTTCCGCA	0.502													T	73904338	C	T	73904338	3	4	27	1	0	0	0	0	1	0	0	0	8086	893	31	1	2115	1	KCNQ5	6	73904338	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	39	73904338	97210729	3268	27219											
KCNQ5	56479	broad.mit.edu	37	chr6	73904905	73904905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtcaagtggctccagagGcagccaagatttttacccca	10	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:73904905G>A	uc003pgk.2	+	14	2914	c.2567G>A	c.(2566-2568)GGC>GAC	p.G856D	KCNQ5_uc011dyh.1_Missense_Mutation_p.G875D|KCNQ5_uc011dyi.1_Missense_Mutation_p.G866D|KCNQ5_uc010kat.2_Missense_Mutation_p.G847D|KCNQ5_uc011dyj.1_Missense_Mutation_p.G746D|KCNQ5_uc011dyk.1_Missense_Mutation_p.G606D	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	856					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GGCTCCAGAGGCAGCCAAGAT	0.473													A	73904905	G	A	73904905	3	1	27	1	0	0	0	0	1	0	0	0	8086	1203	42	2	2682	2	KCNQ5	6	73904905	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	567	73904905	97210162	3269	27220											
MTO1	25821	broad.mit.edu	37	chr6	74210336	74210336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccggagtaacacctgccGccatcatcaatctgctgaga	8	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:74210336G>A	uc003pgy.3	+	13	2156	c.2032G>A	c.(2032-2034)GCC>ACC	p.A678T	MTO1_uc010kav.2_Missense_Mutation_p.A693T|MTO1_uc003pgz.3_Missense_Mutation_p.A653T|MTO1_uc003pha.3_Missense_Mutation_p.A315T|MTO1_uc003phb.3_Missense_Mutation_p.A604T	NM_133645	NP_598400	Q9Y2Z2	MTO1_HUMAN	mitochondrial translation optimization 1 homolog	678					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			ovary(3)|skin(2)|pancreas(1)	6						AACACCTGCCGCCATCATCAA	0.423													A	74210336	G	A	74210336	3	1	27	1	0	0	0	0	1	0	0	0	9953	1087	38	1	2206	1	MTO1	6	74210336	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	305431	74210336	96904731	3270	27221											
CD109	135228	broad.mit.edu	37	chr6	74476735	74476735	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggagttaagctatatggTaatctcttatagaatctaaa	8	4	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:74476735T>C	uc003php.2	+	13	1922	c.1497_splice	c.e13+2	p.M499_splice	CD109_uc010kaz.2_Splice_Site_p.M499_splice|CD109_uc003phq.2_Splice_Site_p.M499_splice|CD109_uc010kba.2_Splice_Site_p.M422_splice	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor							anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						AGCTATATGGTAATCTCTTAT	0.234													C	74476735	T	C	74476735	5	2	27	1	0	0	0	0	0	0	1	0	2963	1652	57	3	1549	3	CD109	6	74476735	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	266399	74476735	96638332	3271	27222											
CD109	135228	broad.mit.edu	37	chr6	74481262	74481262	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgtagctgttgacaaaagTgtgaatctgatgaatgcctc	10	6	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:74481262T>C	uc003php.2	+	15	2210	c.1785T>C	c.(1783-1785)AGT>AGC	p.S595S	CD109_uc010kaz.2_Silent_p.S595S|CD109_uc003phq.2_Silent_p.S595S|CD109_uc010kba.2_Silent_p.S518S	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	595	Bait region (approximate) (By similarity).					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						TTGACAAAAGTGTGAATCTGA	0.353													C	74481262	T	C	74481262	2	2	27	1	0	0	0	0	0	0	0	1	2963	1693	59	3		3	CD109	6	74481262	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4527	74481262	96633805	3272	27223											
COL12A1	1303	broad.mit.edu	37	chr6	75797397	75797397	+	Frame_Shift_Del	DEL	G	G	-													ctgagtttccaggacggccaGgggggccagggggacctctt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:75797396_75797396AG>A	uc021zbv.1	-	63	9113	c.9078_9078CT>T	c.(9076-9078)cctfs	p.P3026fs	COL12A1_uc021zbw.1_Frame_Shift_Del_p.P1862fs|COL12A1_uc003phs.3_Frame_Shift_Del_p.P3026fs|COL12A1_uc003pht.3_Frame_Shift_Del_p.P1862fs	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	3026	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGGACGGCCAGGGGGGCCAG	0.547													-	75797397	G	-	75797397	7	5	27	1	0	1	0	1	0	0	0	0	3669	1000	35	0	122	0	COL12A1	6	75797397	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	1316135	75797397	95317670	3273	27224											
COL12A1	1303	broad.mit.edu	37	chr6	75827138	75827138	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaatgtaataagattgtcTtcgatcttctcaaaagattc	5	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:75827138T>C	uc003phs.2	-	47	7645	c.7479A>G	c.(7477-7479)GAA>GAG	p.E2493E	COL12A1_uc003pht.2_Silent_p.E1329E	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2493	Nonhelical region (NC3).|VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TAAGATTGTCTTCGATCTTCT	0.388													C	75827138	T	C	75827138	2	2	27	1	0	0	0	0	0	0	0	1	3669	1606	56	3		3	COL12A1	6	75827138	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	29741	75827138	95287929	3274	27225											
COL12A1	1303	broad.mit.edu	37	chr6	75853014	75853014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtatcgaacaatatatttaCgcacttttccaggcacaggt	7	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:75853014C>T	uc003phs.2	-	26	4947	c.4781G>A	c.(4780-4782)CGT>CAT	p.R1594H	COL12A1_uc003pht.2_Missense_Mutation_p.R430H	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1594	Fibronectin type-III 11.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						AATATATTTACGCACTTTTCC	0.393													T	75853014	C	T	75853014	3	4	27	1	0	0	0	0	1	0	0	0	3669	536	19	1	4574	1	COL12A1	6	75853014	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	25876	75853014	95262053	3275	27226											
COL12A1	1303	broad.mit.edu	37	chr6	75884990	75884990	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttcatagtagacgtcgtaGggtcagaaactcttaagtct	9	7	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:75884990G>T	uc003phs.2	-	13	2640	c.2474C>A	c.(2473-2475)CCT>CAT	p.P825H	COL12A1_uc003pht.2_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	825	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						AGACGTCGTAGGGTCAGAAAC	0.388													T	75884990	G	T	75884990	3	4	27	1	0	0	0	0	1	0	0	0	3669	1000	35	5	6933	5	COL12A1	6	75884990	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	31976	75884990	95230077	3276	27227											
COL12A1	1303	broad.mit.edu	37	chr6	75898176	75898176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaattgcatcaaagttgGccacattgaaaacatggttc	7	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:75898176G>A	uc003phs.2	-	8	1065	c.899C>T	c.(898-900)GCC>GTC	p.A300V	COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_5'UTR	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	300	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						ATCAAAGTTGGCCACATTGAA	0.408													A	75898176	G	A	75898176	3	1	27	1	0	0	0	0	1	0	0	0	3669	1203	42	2	8528	2	COL12A1	6	75898176	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	13186	75898176	95216891	3277	27228											
FILIP1	27145	broad.mit.edu	37	chr6	76023662	76023662	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcaagtgttagttccttaAtcttattatcttccgggcag	7	8	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:76023662A>G	uc003pia.2	-	5	2259	c.1886T>C	c.(1885-1887)ATT>ACT	p.I629T	FILIP1_uc003phy.1_Missense_Mutation_p.I629T|FILIP1_uc003phz.2_Missense_Mutation_p.I530T|FILIP1_uc010kbe.2_Missense_Mutation_p.I632T|FILIP1_uc003pib.1_Missense_Mutation_p.I381T	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	629	Potential.									skin(3)|ovary(1)	4						TAGTTCCTTAATCTTATTATC	0.413													G	76023662	A	G	76023662	3	3	27	1	0	0	0	0	1	0	0	0	5894	101	4	3	1763	3	FILIP1	6	76023662	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	125486	76023662	95091405	3278	27229											
MYO6	4646	broad.mit.edu	37	chr6	76545675	76545675	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgacagaattgttgaaggTattgctaatttttcagttgt	10	3	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:76545675T>C	uc003pih.1	+	7	832	c.553_splice	c.e7+2	p.A185_splice	MYO6_uc003pig.1_Splice_Site_p.A185_splice|MYO6_uc003pii.1_Splice_Site_p.A185_splice	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI						actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TTGTTGAAGGTATTGCTAATT	0.244													C	76545675	T	C	76545675	5	2	27	1	0	0	0	0	0	0	1	0	10081	1652	57	3	577	3	MYO6	6	76545675	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	522013	76545675	94569392	3279	27230											
MYO6	4646	broad.mit.edu	37	chr6	76617407	76617407	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatgcagaactacgtgatAccatcaatacttcttgtggt	7	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:76617407A>G	uc003pih.1	+	31	3541	c.3262A>G	c.(3262-3264)ACC>GCC	p.T1088A	MYO6_uc003pig.1_Missense_Mutation_p.T1065A|MYO6_uc003pii.1_Missense_Mutation_p.T1065A|MYO6_uc003pij.1_Missense_Mutation_p.T45A	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1097					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		ACTACGTGATACCATCAATAC	0.348													G	76617407	A	G	76617407	3	3	27	1	0	0	0	0	1	0	0	0	10081	391	14	3	3380	3	MYO6	6	76617407	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	71732	76617407	94497660	3280	27231											
IMPG1	3617	broad.mit.edu	37	chr6	76657071	76657071	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagctgtctatttccagatgGagttgttgggctgcagcaga	13	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:76657071G>A	uc003pik.1	-	14	2134	c.2004C>T	c.(2002-2004)CTC>CTT	p.L668L		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	668	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTTCCAGATGGAGTTGTTGGG	0.423													A	76657071	G	A	76657071	2	1	27	1	0	0	0	0	0	0	0	1	7728	1161	41	4		4	IMPG1	6	76657071	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	39664	76657071	94457996	3281	27232											
IMPG1	3617	broad.mit.edu	37	chr6	76715197	76715197	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacttgcagggctttttgcTtctgcactgtgtctcttaaa	8	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:76715197T>G	uc003pik.1	-	10	1072	c.942A>C	c.(940-942)GAA>GAC	p.E314D		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	314	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GGCTTTTTGCTTCTGCACTGT	0.458													G	76715197	T	G	76715197	3	3	27	1	0	0	0	0	1	0	0	0	7728	1606	56	5	1483	5	IMPG1	6	76715197	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	58126	76715197	94399870	3282	27233											
IMPG1	3617	broad.mit.edu	37	chr6	76734953	76734953	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaggctctcccaatgtctTctctgcagatatttcatctt	5	13	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:76734953T>C	uc003pik.1	-	5	650	c.520A>G	c.(520-522)AAG>GAG	p.K174E		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	174					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCCAATGTCTTCTCTGCAGAT	0.343													C	76734953	T	C	76734953	3	2	27	1	0	0	0	0	1	0	0	0	7728	1792	62	3	1925	3	IMPG1	6	76734953	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	19756	76734953	94380114	3283	27234											
BCKDHB	594	broad.mit.edu	37	chr6	80816557	80816557	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggatgcggcccagaggcgGcaggtggctcattttacttt	15	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:80816557G>A	uc003pjd.2	+	1	214	c.147G>A	c.(145-147)CGG>CGA	p.R49R	BCKDHB_uc003pje.2_Silent_p.R49R	NM_000056	NP_000047	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1 beta	49					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding				0		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CCCAGAGGCGGCAGGTGGCTC	0.716													A	80816557	G	A	80816557	2	1	27	1	0	0	0	0	0	0	0	1	1360	1190	42	2		2	BCKDHB	6	80816557	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4081604	80816557	90298510	3284	27235											
UBE2CBP	90025	broad.mit.edu	37	chr6	83732251	83732251	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagagctgcaccagacacTgggcgatcacgctctggaca	13	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:83732251T>C	uc003pjp.2	-	7	875	c.767A>G	c.(766-768)CAG>CGG	p.Q256R	UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjq.2_Missense_Mutation_p.Q46R	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN	ubiquitin-conjugating enzyme E2C binding	256	Interaction with UBE2C.					cytoplasm	ligase activity			ovary(1)	1		all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548)		BRCA - Breast invasive adenocarcinoma(397;0.0944)		CACCAGACACTGGGCGATCAC	0.383													C	83732251	T	C	83732251	3	2	27	1	0	0	0	0	1	0	0	0	16844	1580	55	3	418	3	UBE2CBP	6	83732251	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2915694	83732251	87382816	3285	27236											
DOPEY1	23033	broad.mit.edu	37	chr6	83818737	83818737	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaaacactgaaacctggTctacagggattgcttactgg	11	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:83818737T>A	uc003pjs.1	+	5	689	c.429T>A	c.(427-429)GGT>GGA	p.G143G	DOPEY1_uc011dyy.1_Silent_p.G143G|DOPEY1_uc010kbl.1_Silent_p.G143G	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	143					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGAAACCTGGTCTACAGGGAT	0.388													A	83818737	T	A	83818737	2	1	27	1	0	0	0	0	0	0	0	1	4707	1654	58	5		5	DOPEY1	6	83818737	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	86486	83818737	87296330	3286	27237											
DOPEY1	23033	broad.mit.edu	37	chr6	83830457	83830457	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagagaacactctaatgcAggatctaaagccttttcgca	8	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:83830457A>G	uc003pjs.1	+	10	1306	c.1046A>G	c.(1045-1047)CAG>CGG	p.Q349R	DOPEY1_uc011dyy.1_Missense_Mutation_p.Q340R|DOPEY1_uc010kbl.1_Missense_Mutation_p.Q340R	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	349					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACTCTAATGCAGGATCTAAAG	0.373													G	83830457	A	G	83830457	3	3	27	1	0	0	0	0	1	0	0	0	4707	188	7	3	1076	3	DOPEY1	6	83830457	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	11720	83830457	87284610	3287	27238											
DOPEY1	23033	broad.mit.edu	37	chr6	83848231	83848231	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatgcaaatgatgagcatAgaaattctgacactactctt	6	8	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:83848231A>G	uc003pjs.1	+	21	4730	c.4470A>G	c.(4468-4470)ATA>ATG	p.I1490M	DOPEY1_uc011dyy.1_Missense_Mutation_p.I1481M|DOPEY1_uc010kbl.1_Missense_Mutation_p.I1481M|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1490					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGATGAGCATAGAAATTCTGA	0.378													G	83848231	A	G	83848231	3	3	27	1	0	0	0	0	1	0	0	0	4707	410	15	3	4544	3	DOPEY1	6	83848231	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	17774	83848231	87266836	3288	27239											
DOPEY1	23033	broad.mit.edu	37	chr6	83863667	83863667	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgctcagcagtcttagTgggtatcagtacacacggag	12	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:83863667T>C	uc003pjs.1	+	32	6554	c.6294T>C	c.(6292-6294)AGT>AGC	p.S2098S	DOPEY1_uc011dyy.1_Silent_p.S2089S|DOPEY1_uc010kbl.1_Silent_p.S2089S|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	2098					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCAGTCTTAGTGGGTATCAGT	0.428													C	83863667	T	C	83863667	2	2	27	1	0	0	0	0	0	0	0	1	4707	1693	59	3		3	DOPEY1	6	83863667	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	15436	83863667	87251400	3289	27240											
PGM3	5238	broad.mit.edu	37	chr6	83888390	83888390	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacaaaaatggttcaatAccttcataacttcttcaaga	4	8	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:83888390A>G	uc003pjv.2	-	8	1069	c.1029_splice	c.e8+1	p.K343_splice	PGM3_uc003pjw.2_Splice_Site_p.K262_splice|PGM3_uc011dyz.1_Splice_Site_p.K371_splice	NM_015599	NP_056414	O95394	AGM1_HUMAN	phosphoglucomutase 3						dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		ATGGTTCAATACCTTCATAAC	0.328													G	83888390	A	G	83888390	5	3	27	1	0	0	0	0	0	0	1	0	11800	405	14	3	621	3	PGM3	6	83888390	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	24723	83888390	87226677	3290	27241											
MRAP2	112609	broad.mit.edu	37	chr6	84799100	84799100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccaactttgtgaacacagAccagaactactttggggagg	10	11	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:84799100A>G	uc003pkg.3	+	4	708	c.518A>G	c.(517-519)GAC>GGC	p.D173G	MRAP2_uc010kbo.2_Missense_Mutation_p.D87G	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	173					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			skin(2)	2						GTGAACACAGACCAGAACTAC	0.488													G	84799100	A	G	84799100	3	3	27	1	0	0	0	0	1	0	0	0	9754	275	10	3	528	3	MRAP2	6	84799100	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	910710	84799100	86315967	3291	27242											
KIAA1009	22832	broad.mit.edu	37	chr6	84910585	84910585	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttatcttgttcatcaagatTgacctctgcaacagagtcta	6	9	5	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:84910585T>C	uc010kbp.2	-	9	854	c.757A>G	c.(757-759)AAT>GAT	p.N253D	KIAA1009_uc003pkj.3_Missense_Mutation_p.N177D|KIAA1009_uc003pkk.2_Missense_Mutation_p.N253D	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	253					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCATCAAGATTGACCTCTGCA	0.353													C	84910585	T	C	84910585	3	2	27	1	0	0	0	0	1	0	0	0	8203	1812	63	3	3530	3	KIAA1009	6	84910585	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	111485	84910585	86204482	3292	27243											
TBX18	9096	broad.mit.edu	37	chr6	85446856	85446856	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgctgctcacgcccacAtaggagggagtcctgggcgg	16	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:85446856A>G	uc003pkl.1	-	8	1371	c.1371T>C	c.(1369-1371)TAT>TAC	p.Y457Y	TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	457					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TCACGCCCACATAGGAGGGAG	0.587													G	85446856	A	G	85446856	2	3	27	1	0	0	0	0	0	0	0	1	15650	224	8	3		3	TBX18	6	85446856	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	536271	85446856	85668211	3293	27244											
SNX14	57231	broad.mit.edu	37	chr6	86267737	86267737	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttctatatgcttcattgcTgcttttaatagtttcttggt	6	7	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:86267737T>C	uc003pkr.2	-	7	784	c.591A>G	c.(589-591)GCA>GCG	p.A197A	SNX14_uc003pkp.2_Silent_p.A60A|SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Silent_p.A145A|SNX14_uc003pks.2_Silent_p.A153A|SNX14_uc003pkt.2_Silent_p.A197A	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	197	PXA.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		GCTTCATTGCTGCTTTTAATA	0.284													C	86267737	T	C	86267737	2	2	27	1	0	0	0	0	0	0	0	1	14885	1567	55	3		3	SNX14	6	86267737	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	820881	86267737	84847330	3294	27245											
SNX14	57231	broad.mit.edu	37	chr6	86281934	86281934	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcaagtagcaaagaaggcCtaaagaaaaattatacaact	6	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:86281934C>A	uc003pkr.2	-	4	532	c.339_splice	c.e4-1	p.R113_splice	SNX14_uc003pkq.2_Splice_Site|SNX14_uc011dzg.1_Splice_Site_p.R61_splice|SNX14_uc003pks.2_Splice_Site_p.R113_splice|SNX14_uc003pkt.2_Splice_Site_p.R113_splice	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a						cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CAAAGAAGGCCTAAAGAAAAA	0.303													A	86281934	C	A	86281934	5	1	27	1	0	0	0	0	0	0	1	0	14885	695	24	5	2606	5	SNX14	6	86281934	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	14197	86281934	84833133	3295	27246											
SYNCRIP	10492	broad.mit.edu	37	chr6	86329028	86329028	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaatgaatgaacgcataAtcttttaacttcttcactcg	4	9	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:86329028A>T	uc003pla.2	-	9	1657	c.1116T>A	c.(1114-1116)GAT>GAA	p.D372E	SYNCRIP_uc003pku.2_Missense_Mutation_p.D372E|SYNCRIP_uc003pkw.2_Missense_Mutation_p.D337E|SYNCRIP_uc003pky.2_Missense_Mutation_p.D274E|SYNCRIP_uc003pkv.2_Missense_Mutation_p.D372E|SYNCRIP_uc003pkx.2_Missense_Mutation_p.D220E|SYNCRIP_uc003pkz.2_Missense_Mutation_p.D337E	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA	372	RRM 3.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			ovary(2)	2		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TGAACGCATAATCTTTTAACT	0.363													T	86329028	A	T	86329028	3	4	27	1	0	0	0	0	1	0	0	0	15441	98	4	5	813	5	SYNCRIP	6	86329028	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	47094	86329028	84786039	3296	27247											
ZNF292	23036	broad.mit.edu	37	chr6	87965271	87965271	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaaaagaatagtctctatTcaacagattttatagtgttt	5	4	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:87965271T>G	uc003plm.3	+	8	1965	c.1924T>G	c.(1924-1926)TCA>GCA	p.S642A		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	642					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAGTCTCTATTCAACAGATTT	0.373													G	87965271	T	G	87965271	3	3	27	1	0	0	0	0	1	0	0	0	17823	1783	62	5	1954	5	ZNF292	6	87965271	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1636243	87965271	83149796	3297	27248											
ZNF292	23036	broad.mit.edu	37	chr6	87967776	87967776	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcgatctggtgtgactAactttaataccagtgtcagt	8	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:87967776A>G	uc003plm.3	+	8	4470	c.4429A>G	c.(4429-4431)AAC>GAC	p.N1477D		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGGTGTGACTAACTTTAATAC	0.403													G	87967776	A	G	87967776	3	3	27	1	0	0	0	0	1	0	0	0	17823	362	13	3	4459	3	ZNF292	6	87967776	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2505	87967776	83147291	3298	27249											
AKIRIN2	55122	broad.mit.edu	37	chr6	88385594	88385594	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacagctagcaggctgttcTccatatcgtcgcattatttg	8	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:88385594T>C	uc003pmk.2	-	4	1168	c.585A>G	c.(583-585)GGA>GGG	p.G195G		NM_018064	NP_060534	Q53H80	AKIR2_HUMAN	akirin 2	195					innate immune response|transcription, DNA-dependent	transcriptional repressor complex					0						CAGGCTGTTCTCCATATCGTC	0.303													C	88385594	T	C	88385594	2	2	27	1	0	0	0	0	0	0	0	1	462	1538	54	3		3	AKIRIN2	6	88385594	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	417818	88385594	82729473	3299	27250											
AKIRIN2	55122	broad.mit.edu	37	chr6	88387678	88387678	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgaggatgctgcagaTgaagtccctatgtacaatga	12	6	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:88387678T>C	uc003pmk.2	-	3	970	c.387A>G	c.(385-387)TCA>TCG	p.S129S		NM_018064	NP_060534	Q53H80	AKIR2_HUMAN	akirin 2	129					innate immune response|transcription, DNA-dependent	transcriptional repressor complex					0						ATGCTGCAGATGAAGTCCCTA	0.383													C	88387678	T	C	88387678	2	2	27	1	0	0	0	0	0	0	0	1	462	1451	51	3		3	AKIRIN2	6	88387678	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2084	88387678	82727389	3300	27251											
CNR1	1268	broad.mit.edu	37	chr6	88853779	88853779	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacatgctccggaaagcgtgTcgcaggtccttactcctcag	10	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:88853779T>C	uc011dzq.1	-	2	4778	c.1215A>G	c.(1213-1215)CGA>CGG	p.R405R	CNR1_uc010kbz.2_Silent_p.R405R|CNR1_uc011dzr.1_Silent_p.R405R|CNR1_uc011dzs.1_Silent_p.R405R|CNR1_uc003pmq.3_Silent_p.R405R|CNR1_uc011dzt.1_Silent_p.R405R|CNR1_uc010kca.2_Silent_p.R372R	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	405	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GGAAAGCGTGTCGCAGGTCCT	0.532													C	88853779	T	C	88853779	2	2	27	1	0	0	0	0	0	0	0	1	3631	1654	58	3		3	CNR1	6	88853779	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	466101	88853779	82261288	3301	27252											
RNGTT	8732	broad.mit.edu	37	chr6	89563349	89563349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacataaatatgacttacgCcatccaagagagtatttgat	6	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:89563349C>T	uc003pmr.2	-	9	1251	c.1031G>A	c.(1030-1032)GGC>GAC	p.G344D	RNGTT_uc003pms.2_Missense_Mutation_p.G344D|RNGTT_uc011dzu.1_Missense_Mutation_p.G284D|RNGTT_uc003pmt.2_Missense_Mutation_p.G344D	NM_003800	NP_003791	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	344	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			upper_aerodigestive_tract(1)	1		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		ATGACTTACGCCATCCAAGAG	0.279													T	89563349	C	T	89563349	3	4	27	1	0	0	0	0	1	0	0	0	13503	753	26	2	794	2	RNGTT	6	89563349	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	709570	89563349	81551718	3302	27253											
GABRR1	2569	broad.mit.edu	37	chr6	89890057	89890057	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgcacagtggtcaggTagttgacggccgcatactcc	11	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:89890057T>C	uc003pna.2	-	9	1555	c.1100A>G	c.(1099-1101)TAC>TGC	p.Y367C	GABRR1_uc011dzv.1_Missense_Mutation_p.Y344C	NM_002042	NP_002033	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 1	367	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AGTGGTCAGGTAGTTGACGGC	0.557													C	89890057	T	C	89890057	3	2	27	1	0	0	0	0	1	0	0	0	6176	1638	57	3	347	3	GABRR1	6	89890057	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	326708	89890057	81225010	3303	27254											
MDN1	23195	broad.mit.edu	37	chr6	90372614	90372614	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcatctagtttgtcagctTcctcaccattgagatcgccc	6	14	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:90372614T>C	uc003pnn.1	-	86	14425	c.14309A>G	c.(14308-14310)GAA>GGA	p.E4770G		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4770					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTGTCAGCTTCCTCACCATT	0.403													C	90372614	T	C	90372614	3	2	27	1	0	0	0	0	1	0	0	0	9415	1783	62	3	2549	3	MDN1	6	90372614	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	482557	90372614	80742453	3304	27255											
MDN1	23195	broad.mit.edu	37	chr6	90410395	90410395	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttccaaaatatttgctcTgaggatcagtccccaggctt	7	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:90410395T>C	uc003pnn.1	-	56	8724	c.8608A>G	c.(8608-8610)AGA>GGA	p.R2870G		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2870					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATATTTGCTCTGAGGATCAGT	0.443													C	90410395	T	C	90410395	3	2	27	1	0	0	0	0	1	0	0	0	9415	1588	55	3	8370	3	MDN1	6	90410395	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	37781	90410395	80704672	3305	27256											
MDN1	23195	broad.mit.edu	37	chr6	90410508	90410508	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccccaagggcagacatcTgctccctgatggcaaggact	10	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:90410508T>C	uc003pnn.1	-	56	8611	c.8495A>G	c.(8494-8496)CAG>CGG	p.Q2832R		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2832					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGCAGACATCTGCTCCCTGAT	0.483													C	90410508	T	C	90410508	3	2	27	1	0	0	0	0	1	0	0	0	9415	1580	55	3	8483	3	MDN1	6	90410508	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	113	90410508	80704559	3306	27257											
MDN1	23195	broad.mit.edu	37	chr6	90491146	90491146	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taattctcttccctcaagggTtggtcttttgttttctcttc	6	10	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:90491146T>C	uc003pnn.1	-	10	1731	c.1615A>G	c.(1615-1617)ACC>GCC	p.T539A	MDN1_uc003pno.1_5'UTR|MDN1_uc003pnp.1_Missense_Mutation_p.T539A	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	539					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCTCAAGGGTTGGTCTTTTG	0.303													C	90491146	T	C	90491146	3	2	27	1	0	0	0	0	1	0	0	0	9415	1725	60	3	15547	3	MDN1	6	90491146	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	80638	90491146	80623921	3307	27258											
MDN1	23195	broad.mit.edu	37	chr6	90494776	90494776	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttatccaggtgaattttggtCcaatatttgtctagcaaagt	8	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:90494776C>A	uc003pnn.1	-	9	1520	c.1404G>T	c.(1402-1404)TGG>TGT	p.W468C	MDN1_uc003pno.1_5'UTR|MDN1_uc003pnp.1_Missense_Mutation_p.W468C	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	468					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAATTTTGGTCCAATATTTGT	0.448													A	90494776	C	A	90494776	3	1	27	1	0	0	0	0	1	0	0	0	9415	856	30	5	15762	5	MDN1	6	90494776	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3630	90494776	80620291	3308	27259											
CASP8AP2	9994	broad.mit.edu	37	chr6	90571956	90571956	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catttggatgattgttcaaaGactgatcacagagctaaaag	9	6	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:90571956G>T	uc003pnr.2	+	7	724	c.528G>T	c.(526-528)AAG>AAT	p.K176N	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.K176N|CASP8AP2_uc011dzz.1_Missense_Mutation_p.K176N	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	176					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ATTGTTCAAAGACTGATCACA	0.333													T	90571956	G	T	90571956	3	4	27	1	0	0	0	0	1	0	0	0	2678	933	33	5	550	5	CASP8AP2	6	90571956	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	77180	90571956	80543111	3309	27260											
CASP8AP2	9994	broad.mit.edu	37	chr6	90577062	90577062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctagagactcttaagtgCgagtctataccagcttgtac	9	10	2	1	rs147437828	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:90577062C>T	uc003pnr.2	+	8	4249	c.4053C>T	c.(4051-4053)TGC>TGT	p.C1351C	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.C1351C|CASP8AP2_uc011dzz.1_Silent_p.C1351C	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1351					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CTCTTAAGTGCGAGTCTATAC	0.408													T	90577062	C	T	90577062	2	4	27	1	0	0	0	0	0	0	0	1	2678	776	27	1		1	CASP8AP2	6	90577062	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5106	90577062	80538005	3310	27261											
CASP8AP2	9994	broad.mit.edu	37	chr6	90578332	90578332	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtagatgaagataattgtAaggaagaaaaggcacaagtg	13	2	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:90578332A>G	uc003pnr.2	+	8	5519	c.5323A>G	c.(5323-5325)AAG>GAG	p.K1775E	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.K1775E|CASP8AP2_uc011dzz.1_Missense_Mutation_p.K1775E	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1775	NCOA2-binding.				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGATAATTGTAAGGAAGAAAA	0.413													G	90578332	A	G	90578332	3	3	27	1	0	0	0	0	1	0	0	0	2678	363	13	3	5349	3	CASP8AP2	6	90578332	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1270	90578332	80536735	3311	27262											
BACH2	60468	broad.mit.edu	37	chr6	90642371	90642371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcacgttttcccccactGcgcattgggaggccgcaatg	13	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:90642371G>A	uc011eab.1	-	9	3091	c.2282C>T	c.(2281-2283)GCA>GTA	p.A761V	BACH2_uc003pnw.2_Missense_Mutation_p.A761V	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	761						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TTCCCCCACTGCGCATTGGGA	0.647													A	90642371	G	A	90642371	3	1	27	1	0	0	0	0	1	0	0	0	1284	1319	46	2	247	2	BACH2	6	90642371	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	64039	90642371	80472696	3312	27263											
BACH2	60468	broad.mit.edu	37	chr6	90661298	90661298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggggcaagccatcttgGccgtctctgaatccatcgtc	10	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:90661298G>A	uc011eab.1	-	7	1336	c.527C>T	c.(526-528)GCC>GTC	p.A176V	BACH2_uc003pnw.2_Missense_Mutation_p.A176V|BACH2_uc010kch.2_Missense_Mutation_p.A176V	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	176						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AGCCATCTTGGCCGTCTCTGA	0.622													A	90661298	G	A	90661298	3	1	27	1	0	0	0	0	1	0	0	0	1284	1203	42	2	2010	2	BACH2	6	90661298	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	18927	90661298	80453769	3313	27264											
BACH2	60468	broad.mit.edu	37	chr6	90661318	90661318	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccgtctctgaatccatcgtCtcctcctcttcatcctcctc	4	19	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:90661318C>T	uc011eab.1	-	7	1316	c.507G>A	c.(505-507)GAG>GAA	p.E169E	BACH2_uc003pnw.2_Silent_p.E169E|BACH2_uc010kch.2_Silent_p.E169E	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	169	Poly-Glu.					nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AATCCATCGTCTCCTCCTCTT	0.612													T	90661318	C	T	90661318	2	4	27	1	0	0	0	0	0	0	0	1	1284	912	32	4		4	BACH2	6	90661318	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	20	90661318	80453749	3314	27265											
MAP3K7	6885	broad.mit.edu	37	chr6	91226365	91226365	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagatgtattttgctggtccTtttcatcctggtccagttct	9	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:91226365T>C	uc003pnz.1	-	17	1838	c.1676A>G	c.(1675-1677)AAG>AGG	p.K559R	MAP3K7_uc003pny.1_Missense_Mutation_p.K96R|MAP3K7_uc003poa.1_3'UTR|MAP3K7_uc003pob.1_Missense_Mutation_p.K532R|MAP3K7_uc003poc.1_3'UTR	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	559					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTGCTGGTCCTTTTCATCCTG	0.363													C	91226365	T	C	91226365	3	2	27	1	0	0	0	0	1	0	0	0	9255	1609	56	3	148	3	MAP3K7	6	91226365	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	565047	91226365	79888702	3315	27266											
MAP3K7	6885	broad.mit.edu	37	chr6	91233425	91233425	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaggggtccatggatgActtcgagttggcttttctga	12	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:91233425A>T	uc003pnz.1	-	14	1596	c.1434T>A	c.(1432-1434)AGT>AGA	p.S478R	MAP3K7_uc003pny.1_Missense_Mutation_p.S15R|MAP3K7_uc003poa.1_Missense_Mutation_p.S478R|MAP3K7_uc003pob.1_Missense_Mutation_p.S451R|MAP3K7_uc003poc.1_Missense_Mutation_p.S451R	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	478					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TCCATGGATGACTTCGAGTTG	0.443													T	91233425	A	T	91233425	3	4	27	1	0	0	0	0	1	0	0	0	9255	272	10	5	402	5	MAP3K7	6	91233425	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	7060	91233425	79881642	3316	27267											
MAP3K7	6885	broad.mit.edu	37	chr6	91260185	91260185	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcttccaatctatccatttAcctgtactggtggcagagtt	7	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:91260185A>T	uc003pnz.1	-	9	1111	c.949_splice	c.e9+1	p.G317_splice	MAP3K7_uc003poa.1_Splice_Site_p.G317_splice|MAP3K7_uc003pob.1_Splice_Site_p.G317_splice|MAP3K7_uc003poc.1_Splice_Site_p.G317_splice	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7						activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTATCCATTTACCTGTACTGG	0.348													T	91260185	A	T	91260185	5	4	27	1	0	0	0	0	0	0	1	0	9255	405	14	5	905	5	MAP3K7	6	91260185	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	26760	91260185	79854882	3317	27268											
FUT9	10690	broad.mit.edu	37	chr6	96651601	96651601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaaagagaaattggtgtgCtgggttgtgagtaactggaa	15	3	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:96651601C>T	uc003pop.3	+	3	911	c.570C>T	c.(568-570)TGC>TGT	p.C190C		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	190	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			skin(4)|ovary(1)	5		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AATTGGTGTGCTGGGTTGTGA	0.458													T	96651601	C	T	96651601	2	4	27	1	0	0	0	0	0	0	0	1	6111	805	28	2		2	FUT9	6	96651601	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5391416	96651601	74463466	3318	27269											
KIAA0776	23376	broad.mit.edu	37	chr6	96986536	96986536	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccacttctttatcagttgaAgatgctgccatattgcttca	6	11	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:96986536A>C	uc003por.2	+	10	1056	c.1008A>C	c.(1006-1008)GAA>GAC	p.E336D	KIAA0776_uc010kck.2_RNA	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	336					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)		TATCAGTTGAAGATGCTGCCA	0.353													C	96986536	A	C	96986536	3	2	27	1	0	0	0	0	1	0	0	0	8193	69	3	5	1046	5	KIAA0776	6	96986536	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	334935	96986536	74128531	3319	27270											
GPR63	81491	broad.mit.edu	37	chr6	97247161	97247161	+	Frame_Shift_Del	DEL	A	A	-													accctacagaagaatttcccAaaaatccatcgggtagtaag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:97247160_97247160CA>C	uc010kcl.3	-	2	926	c.448_448TG>G	c.(448-450)gggfs	p.G150fs	GPR63_uc003pou.3_Frame_Shift_Del_p.G150fs|GPR63_uc021zcy.1_Frame_Shift_Del_p.G150fs	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA.	150						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.G150R(2)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AAGAATTTCCCAAAAATCCAT	0.418													-	97247161	A	-	97247161	7	5	27	1	0	1	0	1	0	0	0	0	6704	127	5	0	816	0	GPR63	6	97247161	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	260625	97247161	73867906	3320	27271											
C6orf167	253714	broad.mit.edu	37	chr6	97634560	97634560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgacacaattgttgatgCatactcctaaaaagaaataa	5	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:97634560C>T	uc003ppb.2	-	15	2312	c.2046G>A	c.(2044-2046)ATG>ATA	p.M682I	C6orf167_uc011eaf.1_Missense_Mutation_p.M642I	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	682					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		ATTGTTGATGCATACTCCTAA	0.353													T	97634560	C	T	97634560	3	4	27	1	0	0	0	0	1	0	0	0	2342	710	25	2	1729	2	C6orf167	6	97634560	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	387399	97634560	73480507	3321	27272											
C6orf168	84553	broad.mit.edu	37	chr6	99729068	99729068	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actgttcgtggtctgtatagTcatccatgtccacatccgaa	8	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:99729068T>A	uc003ppj.3	-	6	1485	c.1202A>T	c.(1201-1203)GAC>GTC	p.D401V	C6orf168_uc003ppi.3_Missense_Mutation_p.D121V	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	hypothetical protein LOC84553	401										ovary(2)|central_nervous_system(1)	3		all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.073)		GTCTGTATAGTCATCCATGTC	0.502													A	99729068	T	A	99729068	3	1	27	1	0	0	0	0	1	0	0	0	2343	1667	58	5	31	5	C6orf168	6	99729068	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2094508	99729068	71385999	3322	27273											
SFRS18	25957	broad.mit.edu	37	chr6	99849264	99849264	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtactactagtactactagTtctgctattgctactggaac	7	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:99849264T>C	uc003ppo.3	-	12	1798	c.1570A>G	c.(1570-1572)ACT>GCT	p.T524A	SFRS18_uc003ppl.2_Missense_Mutation_p.T70A|SFRS18_uc003ppp.3_Missense_Mutation_p.T524A|SFRS18_uc011eag.1_Missense_Mutation_p.T524A	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	524	Ser-rich.					nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		gtactactagttctgctattg	0.294													C	99849264	T	C	99849264	3	2	27	1	0	0	0	0	1	0	0	0	14174	1725	60	3	851	3	SFRS18	6	99849264	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	120196	99849264	71265803	3323	27274											
SFRS18	25957	broad.mit.edu	37	chr6	99862500	99862500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattgttgctggttcaagggCcactgctgccaaggctgtcc	12	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:99862500C>A	uc003ppo.3	-	3	264	c.36G>T	c.(34-36)TGG>TGT	p.W12C	SFRS18_uc003ppp.3_Missense_Mutation_p.W12C|SFRS18_uc011eag.1_Missense_Mutation_p.W12C|SFRS18_uc003ppr.2_Missense_Mutation_p.W12C|SFRS18_uc003ppt.2_Missense_Mutation_p.W12C|SFRS18_uc003pps.2_Missense_Mutation_p.W12C	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	12	Gln-rich.					nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		GGTTCAAGGGCCACTGCTGCC	0.388													A	99862500	C	A	99862500	3	1	27	1	0	0	0	0	1	0	0	0	14174	740	26	5	2421	5	SFRS18	6	99862500	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	13236	99862500	71252567	3324	27275											
SIM1	6492	broad.mit.edu	37	chr6	100841584	100841584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcctcgagtggtcaagcGcaaagccatagcagagagag	13	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:100841584G>A	uc003pqj.3	-	10	1556	c.1349C>T	c.(1348-1350)GCG>GTG	p.A450V	SIM1_uc010kcu.2_Missense_Mutation_p.A450V	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	450	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTGGTCAAGCGCAAAGCCATA	0.622													A	100841584	G	A	100841584	3	1	27	1	0	0	0	0	1	0	0	0	14323	1087	38	1	959	1	SIM1	6	100841584	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	979084	100841584	70273483	3325	27276											
ASCC3	10973	broad.mit.edu	37	chr6	101099511	101099511	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttttgtgagcatcaaagagTtcattaaaggtctaccaaag	9	6	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:101099511T>C	uc003pqk.2	-	19	3329	c.3000A>G	c.(2998-3000)GAA>GAG	p.E1000E	ASCC3_uc011eai.1_Silent_p.E902E	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1000	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CATCAAAGAGTTCATTAAAGG	0.234													C	101099511	T	C	101099511	2	2	27	1	0	0	0	0	0	0	0	1	1033	1722	60	3		3	ASCC3	6	101099511	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	257927	101099511	70015556	3326	27277											
ASCC3	10973	broad.mit.edu	37	chr6	101296112	101296112	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctactcttggcacttcagtcAtttccttcaaagttgaattt	5	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:101296112A>G	uc003pqk.2	-	4	1042	c.713T>C	c.(712-714)ATG>ACG	p.M238T	ASCC3_uc011eai.1_Missense_Mutation_p.M140T|ASCC3_uc003pql.2_Missense_Mutation_p.M238T|ASCC3_uc010kcv.2_Missense_Mutation_p.M238T	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CACTTCAGTCATTTCCTTCAA	0.388													G	101296112	A	G	101296112	3	3	27	1	0	0	0	0	1	0	0	0	1033	217	8	3	6051	3	ASCC3	6	101296112	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	196601	101296112	69818955	3327	27278											
ASCC3	10973	broad.mit.edu	37	chr6	101296277	101296277	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgagtttcaccatttattGgcagttcgtcaaagtggtcc	9	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:101296277G>T	uc003pqk.2	-	4	877	c.548C>A	c.(547-549)CCA>CAA	p.P183Q	ASCC3_uc011eai.1_Missense_Mutation_p.P85Q|ASCC3_uc003pql.2_Missense_Mutation_p.P183Q|ASCC3_uc010kcv.2_Missense_Mutation_p.P183Q	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ACCATTTATTGGCAGTTCGTC	0.388													T	101296277	G	T	101296277	3	4	27	1	0	0	0	0	1	0	0	0	1033	1348	47	5	6216	5	ASCC3	6	101296277	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	165	101296277	69818790	3328	27279											
POPDC3	64208	broad.mit.edu	37	chr6	105606454	105606454	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagccgaatatcatagtgaTatctttttcctatatatacc	5	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:105606454T>C	uc003prb.2	-	4	1169	c.767A>G	c.(766-768)TAT>TGT	p.Y256C	uc003pqz.2_Intron|POPDC3_uc003pra.2_RNA	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	popeye protein 3	256						integral to membrane				skin(3)|ovary(2)	5		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				ATCATAGTGATATCTTTTTCC	0.408													C	105606454	T	C	105606454	3	2	27	1	0	0	0	0	1	0	0	0	12256	1406	49	3	112	3	POPDC3	6	105606454	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4310177	105606454	65508613	3329	27280											
PREP	5550	broad.mit.edu	37	chr6	105736671	105736671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatatgttgaagccgccataGccatataagaaagctggatg	11	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:105736671G>A	uc003prc.2	-	11	1619	c.1416C>T	c.(1414-1416)GGC>GGT	p.G472G		NM_002726	NP_002717	P48147	PPCE_HUMAN	prolyl endopeptidase	472					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	AGCCGCCATAGCCATATAAGA	0.418													A	105736671	G	A	105736671	2	1	27	1	0	0	0	0	0	0	0	1	12474	958	34	2		2	PREP	6	105736671	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	130217	105736671	65378396	3330	27281											
PRDM1	639	broad.mit.edu	37	chr6	106552769	106552770	+	Frame_Shift_Del	DEL	AG	AG	-													ctgcccaaagaatgtcccaaAgagagagtacagcgtgaaag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:106552768_106552769AAG>A	uc003prd.2	+	4	967_968	c.733_734AAG>A	c.(733-735)aagfs	p.K245fs	PRDM1_uc003pre.3_Frame_Shift_Del_p.K111fs	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	245					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D245fs*1(3)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GAATGTCCCAAAGAGAGAGTAC	0.436			"D, N, Mis, F, S"		DLBCL								-	106552770	AG	-	106552769	7	5	27	1	0	1	0	1	0	0	0	0	12450	72	3	0	765	0	PRDM1	6	106552769	Frame_Shift_Del	DEL	AG	TCGA-BR-6452-01A-12D-1800-08	816098	106552769	64562298	3331	27282											
AIM1	202	broad.mit.edu	37	chr6	106968337	106968337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatggccaggatagccctgCcagccttttgaacatttctg	9	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:106968337C>T	uc003prh.2	+	2	2517	c.2030C>T	c.(2029-2031)GCC>GTC	p.A677V		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	677							sugar binding			breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GATAGCCCTGCCAGCCTTTTG	0.438													T	106968337	C	T	106968337	3	4	27	1	0	0	0	0	1	0	0	0	430	739	26	2	2036	2	AIM1	6	106968337	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	415568	106968337	64146730	3332	27283											
RTN4IP1	84816	broad.mit.edu	37	chr6	107050795	107050795	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcgcctaagattagaAcactgaaatgcaaaggaaac	9	8	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:107050795A>G	uc003prj.2	-	5	1100	c.623T>C	c.(622-624)GTT>GCT	p.V208A	RTN4IP1_uc010kdd.2_Intron|RTN4IP1_uc003prk.2_Missense_Mutation_p.V108A	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1 precursor	208						mitochondrion	oxidoreductase activity|zinc ion binding				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		TAAGATTAGAACACTGAAATG	0.269													G	107050795	A	G	107050795	3	3	27	1	0	0	0	0	1	0	0	0	13729	43	2	3	587	3	RTN4IP1	6	107050795	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	82458	107050795	64064272	3333	27284											
QRSL1	55278	broad.mit.edu	37	chr6	107090936	107090936	+	Frame_Shift_Del	DEL	A	A	-													cagggagctctactaatgggAaaaacaaatttagatgagtt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:107090935_107090935GA>G	uc003prm.3	+	3	466	c.350_350GA>G	c.(349-351)ggafs	p.G117fs	QRSL1_uc003prl.2_Frame_Shift_Del_p.G117fs	NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	Homo sapiens glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 (QRSL1), mRNA.	117					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		CTACTAATGGGAAAAACAAAT	0.313													-	107090936	A	-	107090936	7	5	27	1	0	1	0	1	0	0	0	0	12881	233	9	0	365	0	QRSL1	6	107090936	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	40141	107090936	64024131	3334	27285											
QRSL1	55278	broad.mit.edu	37	chr6	107096961	107096961	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctggagttattcaaaacaaTatagagaaaagaggaagcag	10	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:107096961T>A	uc003prm.2	+	5	558	c.442T>A	c.(442-444)TAT>AAT	p.Y148N	QRSL1_uc003prl.2_Missense_Mutation_p.Y148N	NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase	148					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		TTCAAAACAATATAGAGAAAA	0.448													A	107096961	T	A	107096961	3	1	27	1	0	0	0	0	1	0	0	0	12881	1406	49	5	460	5	QRSL1	6	107096961	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	6025	107096961	64018106	3335	27286											
SCML4	256380	broad.mit.edu	37	chr6	108067978	108067978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcgatgcaggcttggacGgcctgctgcagcaccgccga	14	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:108067978G>A	uc010kdf.2	-	4	653	c.402C>T	c.(400-402)GCC>GCT	p.A134A	SCML4_uc003prz.3_Silent_p.A76A|SCML4_uc011eam.1_Silent_p.A134A|SCML4_uc003psa.3_Silent_p.A105A	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		AGGCTTGGACGGCCTGCTGCA	0.637													A	108067978	G	A	108067978	2	1	27	1	0	0	0	0	0	0	0	1	13911	1103	39	1		1	SCML4	6	108067978	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	971017	108067978	63047089	3336	27287											
SEC63	11231	broad.mit.edu	37	chr6	108246125	108246125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaatgcccatcctgcaagcAgaactattttcctgtttagg	7	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:108246125A>G	uc003psc.3	-	3	505	c.236T>C	c.(235-237)CTG>CCG	p.L79P		NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	SEC63-like protein	79	Helical; (Potential).				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			ovary(1)|skin(1)	2		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TCCTGCAAGCAGAACTATTTT	0.343													G	108246125	A	G	108246125	3	3	27	1	0	0	0	0	1	0	0	0	14005	188	7	3	2122	3	SEC63	6	108246125	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	178147	108246125	62868942	3337	27288											
OSTM1	28962	broad.mit.edu	37	chr6	108395540	108395540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaggcgcacgggccgggCgctgcgcaccagacaccctg	15	16	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:108395540C>T	uc003psd.2	-	1	402	c.316G>A	c.(316-318)GCC>ACC	p.A106T		NM_014028	NP_054747	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	106	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		ACGGGCCGGGCGCTGCGCACC	0.672													T	108395540	C	T	108395540	3	4	27	1	0	0	0	0	1	0	0	0	11298	768	27	1	712	1	OSTM1	6	108395540	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	149415	108395540	62719527	3338	27289											
SESN1	27244	broad.mit.edu	37	chr6	109315666	109315666	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atataatggttgttcttaccTgaagagaagacaaacatact	7	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:109315666T>C	uc003pst.3	-	6	1034	c.942A>G	c.(940-942)TCA>TCG	p.S314S	SESN1_uc003psu.2_Silent_p.S373S	NM_014454	NP_055269	Q9Y6P5	SESN1_HUMAN	sestrin 1	314					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				ovary(1)	1		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TGTTCTTACCTGAAGAGAAGA	0.318													C	109315666	T	C	109315666	2	2	27	1	0	0	0	0	0	0	0	1	14124	1594	55	3		3	SESN1	6	109315666	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	920126	109315666	61799401	3339	27290											
C6orf182	285753	broad.mit.edu	37	chr6	109484127	109484127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatccaatacgagttcataAtcttcaaatgaaattgagaa	5	7	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:109484127A>G	uc010kdk.2	+	13	1914	c.1337A>G	c.(1336-1338)AAT>AGT	p.N446S	C6orf182_uc003psx.3_3'UTR|C6orf182_uc010kdl.2_Missense_Mutation_p.N446S|C6orf182_uc003psy.3_Missense_Mutation_p.N446S	NM_001083535	NP_001077004	Q8IYX8	CE57L_HUMAN	hypothetical protein LOC285753	446						microtubule|microtubule organizing center					0		all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11)		BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)		CGAGTTCATAATCTTCAAATG	0.348													G	109484127	A	G	109484127	3	3	27	1	0	0	0	0	1	0	0	0	2346	101	4	3	1375	3	C6orf182	6	109484127	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	168461	109484127	61630940	3340	27291											
PPIL6	285755	broad.mit.edu	37	chr6	109740430	109740430	+	Frame_Shift_Del	DEL	T	T	-													atcgactctccattatctccTtttccatacactatatctga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:109740429_109740429CT>C	uc010kdp.3	-	5	1230	c.649_649AG>G	c.(649-651)ggafs	p.G217fs	PPIL6_uc003ptg.4_Frame_Shift_Del_p.G217fs|PPIL6_uc021zdq.1_Non-coding_Transcript	NM_001111298	NP_001104768	Q8IXY8	PPIL6_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 6 (PPIL6), transcript variant 2, mRNA.	217	PPIase cyclophilin-type.				protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		CCATTATCTCCTTTTCCATAC	0.284													-	109740430	T	-	109740430	7	5	27	1	0	1	0	1	0	0	0	0	12331	1606	56	0	381	0	PPIL6	6	109740430	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	256303	109740430	61374637	3341	27292											
PPIL6	285755	broad.mit.edu	37	chr6	109748083	109748083	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagccattctgtactattcGatgaaaaatggaatttttgt	7	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:109748083G>A	uc003ptg.3	-	5	652	c.598C>T	c.(598-600)CGA>TGA	p.R200*	PPIL6_uc010kdo.2_Nonsense_Mutation_p.R168*|PPIL6_uc010kdp.2_Nonsense_Mutation_p.R200*	NM_173672	NP_775943	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase-like 6 isoform 1	200	PPIase cyclophilin-type.				protein folding		peptidyl-prolyl cis-trans isomerase activity				0		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TGTACTATTCGATGAAAAATG	0.348													A	109748083	G	A	109748083	4	1	27	1	0	0	0	0	0	1	0	0	12331	1066	37	1	435	1	PPIL6	6	109748083	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	7653	109748083	61366984	3342	27293											
PPIL6	285755	broad.mit.edu	37	chr6	109757309	109757309	+	Splice_Site	DEL	T	T	-													accccaaatatcctttacccTttttttctcctgtagatatt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:109757308_109757308CT>C	uc010kdp.3	-	2	812	c.231_splice	c.e2+1	p.R77_splice	PPIL6_uc003ptg.4_Splice_Site_p.R77_splice|PPIL6_uc021zdq.1_Splice_Site|Mir_584_uc021zdr.1_5'Flank	NM_001111298	NP_001104768	Q8IXY8	PPIL6_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 6 (PPIL6), transcript variant 2, mRNA.	77					protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		ATCCTTTACCCTTTTTTTCTC	0.338													-	109757309	T	-	109757309	8	5	27	1	0	1	0	1	0	0	1	0	12331	1608	56	0	816	0	PPIL6	6	109757309	Splice_Site	DEL	T	TCGA-BR-6452-01A-12D-1800-08	9226	109757309	61357758	3343	27294											
ZBTB24	9841	broad.mit.edu	37	chr6	109803146	109803146	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcctttcttcctctgatcCtcaaaactggccagcacagt	6	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:109803146C>A	uc003ptl.1	-	2	252	c.84G>T	c.(82-84)GAG>GAT	p.E28D	ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.E28D|ZBTB24_uc010kdt.1_RNA|ZBTB24_uc003ptm.2_Missense_Mutation_p.E28D	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24 isoform	28	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TCCTCTGATCCTCAAAACTGG	0.483													A	109803146	C	A	109803146	3	1	27	1	0	0	0	0	1	0	0	0	17528	680	24	5	2083	5	ZBTB24	6	109803146	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	45837	109803146	61311921	3344	27295											
AKD1	221264	broad.mit.edu	37	chr6	109854523	109854523	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcttttgttttagtttccaCttttcaatttgggcaggaag	8	6	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:109854523C>G	uc003ptn.2	-	28	3578	c.3501G>C	c.(3499-3501)AAG>AAC	p.K1167N	AKD1_uc011eat.1_Missense_Mutation_p.K246N	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1167					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						TTAGTTTCCACTTTTCAATTT	0.343													G	109854523	C	G	109854523	3	3	27	1	0	0	0	0	1	0	0	0	460	564	20	5	2290	5	AKD1	6	109854523	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	51377	109854523	61260544	3345	27296											
AKD1	221264	broad.mit.edu	37	chr6	109867248	109867248	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaactgaatgtgaaaaatgTttaatttttctgccaactgt	6	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:109867248T>C	uc003ptn.2	-	26	3124	c.3047A>G	c.(3046-3048)AAC>AGC	p.N1016S	AKD1_uc011eat.1_Missense_Mutation_p.N95S	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1016					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						GTGAAAAATGTTTAATTTTTC	0.428													C	109867248	T	C	109867248	3	2	27	1	0	0	0	0	1	0	0	0	460	1725	60	3	2752	3	AKD1	6	109867248	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	12725	109867248	61247819	3346	27297											
AKD1	221264	broad.mit.edu	37	chr6	109871475	109871475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttttgtgtctcccaaatGcctctttctctccttcattt	5	12	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:109871475G>A	uc003ptn.2	-	25	2859	c.2782C>T	c.(2782-2784)CAT>TAT	p.H928Y	AKD1_uc011eat.1_Missense_Mutation_p.H7Y	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	928					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						TCTCCCAAATGCCTCTTTCTC	0.363													A	109871475	G	A	109871475	3	1	27	1	0	0	0	0	1	0	0	0	460	1319	46	2	3021	2	AKD1	6	109871475	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4227	109871475	61243592	3347	27298											
GPR6	2830	broad.mit.edu	37	chr6	110300428	110300428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacacgggcgaatggggacCccctgctgcggcggctctag	17	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:110300428C>T	uc011eaw.1	+	2	293	c.113C>T	c.(112-114)CCC>CTC	p.P38L	GPR6_uc011eav.1_Missense_Mutation_p.P53L|GPR6_uc003ptu.2_Missense_Mutation_p.P38L	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	38	Extracellular (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GAATGGGGACCCCCTGCTGCG	0.502													T	110300428	C	T	110300428	3	4	27	1	0	0	0	0	1	0	0	0	6701	623	22	4	115	4	GPR6	6	110300428	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	428953	110300428	60814639	3348	27299											
GPR6	2830	broad.mit.edu	37	chr6	110300509	110300509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctgtcggctgggccacCgggactcctgctgccagcgg	16	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:110300509C>T	uc011eaw.1	+	2	374	c.194C>T	c.(193-195)CCG>CTG	p.P65L	GPR6_uc011eav.1_Missense_Mutation_p.P80L|GPR6_uc003ptu.2_Missense_Mutation_p.P65L	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	65	Extracellular (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GCTGGGCCACCGGGACTCCTG	0.682													T	110300509	C	T	110300509	3	4	27	1	0	0	0	0	1	0	0	0	6701	652	23	1	196	1	GPR6	6	110300509	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	81	110300509	60814558	3349	27300											
GPR6	2830	broad.mit.edu	37	chr6	110300639	110300639	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgctgcgcacgcccatgttCgtgctggtaggcagcctggc	15	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:110300639C>T	uc011eaw.1	+	2	504	c.324C>T	c.(322-324)TTC>TTT	p.F108F	GPR6_uc011eav.1_Silent_p.F123F|GPR6_uc003ptu.2_Silent_p.F108F	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	108	Helical; Name=2; (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CGCCCATGTTCGTGCTGGTAG	0.642													T	110300639	C	T	110300639	2	4	27	1	0	0	0	0	0	0	0	1	6701	883	31	1		1	GPR6	6	110300639	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	130	110300639	60814428	3350	27301											
SLC22A16	85413	broad.mit.edu	37	chr6	110777921	110777921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaaactctttcttactgCcagtgtattcatagcccaaa	6	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:110777921C>T	uc003puf.2	-	2	420	c.353G>A	c.(352-354)GGC>GAC	p.G118D	SLC22A16_uc003pue.2_Missense_Mutation_p.G99D|SLC22A16_uc003pug.2_Missense_Mutation_p.G118D	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	118					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		TTTCTTACTGCCAGTGTATTC	0.473													T	110777921	C	T	110777921	3	4	27	1	0	0	0	0	1	0	0	0	14447	739	26	2	1408	2	SLC22A16	6	110777921	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	477282	110777921	60337146	3351	27302											
AMD1	262	broad.mit.edu	37	chr6	111213504	111213504	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttaatttttatttaggtActtatatactctggatttcc	4	5	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:111213504A>G	uc003puk.1	+	6	795	c.473A>G	c.(472-474)TAC>TGC	p.Y158C	AMD1_uc011eay.1_Missense_Mutation_p.Y89C|AMD1_uc011eaz.1_Missense_Mutation_p.Y129C|AMD1_uc011eba.1_Missense_Mutation_p.Y38C|AMD1_uc003pul.1_Missense_Mutation_p.Y10C	NM_001634	NP_001625	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1 isoform 1	158					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			upper_aerodigestive_tract(1)	1		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	TTATTTAGGTACTTATATACT	0.353													G	111213504	A	G	111213504	3	3	27	1	0	0	0	0	1	0	0	0	566	391	14	3	495	3	AMD1	6	111213504	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	435583	111213504	59901563	3352	27303											
KIAA1919	91749	broad.mit.edu	37	chr6	111585063	111585063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcggctaccaccgttggtcTttatcttgttcctttttgca	8	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:111585063T>C	uc003puv.3	+	3	649	c.227T>C	c.(226-228)CTT>CCT	p.L76P		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	sodium-dependent glucose transporter 1	76	Helical; (Potential).				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(3)	3		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		ACCGTTGGTCTTTATCTTGTT	0.383													C	111585063	T	C	111585063	3	2	27	1	0	0	0	0	1	0	0	0	8262	1609	56	3	237	3	KIAA1919	6	111585063	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	371559	111585063	59530004	3353	27304											
REV3L	5980	broad.mit.edu	37	chr6	111680216	111680216	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgattagggtaagattttgtAtctataaaagcaaataaata	7	2	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:111680216A>T	uc003puy.3	-	17	7204	c.6881T>A	c.(6880-6882)ATA>AAA	p.I2294K	REV3L_uc003pux.3_Missense_Mutation_p.I2216K|REV3L_uc003puz.3_Missense_Mutation_p.I2216K|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2294					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAGATTTTGTATCTATAAAAG	0.353								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	111680216	A	T	111680216	3	4	27	1	0	0	0	0	1	0	0	0	13240	463	16	5	2575	5	REV3L	6	111680216	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	95153	111680216	59434851	3354	27305											
REV3L	5980	broad.mit.edu	37	chr6	111694279	111694279	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgaacacagaaagaaTccattattgagttagaccga	8	9	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:111694279T>A	uc003puy.3	-	13	5602	c.5279A>T	c.(5278-5280)GAT>GTT	p.D1760V	REV3L_uc003pux.3_Missense_Mutation_p.D1682V|REV3L_uc003puz.3_Missense_Mutation_p.D1682V	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1760					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ACAGAAAGAATCCATTATTGA	0.398								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	111694279	T	A	111694279	3	1	27	1	0	0	0	0	1	0	0	0	13240	1435	50	5	4193	5	REV3L	6	111694279	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	14063	111694279	59420788	3355	27306											
REV3L	5980	broad.mit.edu	37	chr6	111696103	111696103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcttatatacattaggaCccttaaaaagcattgcctct	4	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:111696103C>T	uc003puy.3	-	13	3778	c.3455G>A	c.(3454-3456)GGT>GAT	p.G1152D	REV3L_uc003pux.3_Missense_Mutation_p.G1074D|REV3L_uc003puz.3_Missense_Mutation_p.G1074D	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1152					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TACATTAGGACCCTTAAAAAG	0.418								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	111696103	C	T	111696103	3	4	27	1	0	0	0	0	1	0	0	0	13240	507	18	4	6017	4	REV3L	6	111696103	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1824	111696103	59418964	3356	27307											
REV3L	5980	broad.mit.edu	37	chr6	111696362	111696362	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttttaatattttcattatTtgtcctttgttgtttaccag	4	6	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:111696362T>C	uc003puy.3	-	13	3519	c.3196A>G	c.(3196-3198)AAT>GAT	p.N1066D	REV3L_uc003pux.3_Missense_Mutation_p.N988D|REV3L_uc003puz.3_Missense_Mutation_p.N988D	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1066					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTTCATTATTTGTCCTTTGT	0.333								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					C	111696362	T	C	111696362	3	2	27	1	0	0	0	0	1	0	0	0	13240	1841	64	3	6276	3	REV3L	6	111696362	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	259	111696362	59418705	3357	27308											
FYN	2534	broad.mit.edu	37	chr6	112041137	112041137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtcacaccgaagctggGgtagtgctgaggggtggggt	21	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:112041137G>A	uc003pvj.2	-	3	458	c.118C>T	c.(118-120)CCC>TCC	p.P40S	FYN_uc003pvi.2_Missense_Mutation_p.P40S|FYN_uc003pvk.2_Missense_Mutation_p.P40S|FYN_uc003pvh.2_Missense_Mutation_p.P40S	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	40					axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|central_nervous_system(1)|skin(1)	7		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	CCGAAGCTGGGGTAGTGCTGA	0.567													A	112041137	G	A	112041137	3	1	27	1	0	0	0	0	1	0	0	0	6126	1232	43	4	1699	4	FYN	6	112041137	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	344775	112041137	59073930	3358	27309											
HDAC2	3066	broad.mit.edu	37	chr6	114267237	114267237	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacatcgagcaacattacggAttgtgtagccacctcctcca	7	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:114267237A>T	uc003pwd.1	-	9	1199	c.1199T>A	c.(1198-1200)ATC>AAC	p.I400N	HDAC2_uc003pwc.1_Missense_Mutation_p.I276N|HDAC2_uc003pwe.1_Missense_Mutation_p.I276N	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	histone deacetylase 2	306	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			skin(2)|ovary(1)|central_nervous_system(1)	4		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	AACATTACGGATTGTGTAGCC	0.378													T	114267237	A	T	114267237	3	4	27	1	0	0	0	0	1	0	0	0	7007	333	12	5	573	5	HDAC2	6	114267237	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2226100	114267237	56847830	3359	27310											
NT5DC1	221294	broad.mit.edu	37	chr6	116542291	116542291	+	Frame_Shift_Del	DEL	A	A	-													atagttgtcctgaatctgtgAaaaaatggcttcgacagcta							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:116542290_116542290GA>G	uc003pwj.3	+	6	698	c.603_603GA>G	c.(601-603)gtgfs	p.V201fs	NT5DC1_uc003pwl.3_Frame_Shift_Del_p.V151fs	NM_152729	NP_689942	Q5TFE4	NT5D1_HUMAN	Homo sapiens 5'-nucleotidase domain containing 1 (NT5DC1), mRNA.	201							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		CTGAATCTGTGAAAAAATGGC	0.328													-	116542291	A	-	116542291	7	5	27	1	0	1	0	1	0	0	0	0	10690	247	9	0	630	0	NT5DC1	6	116542291	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	2275054	116542291	54572776	3360	27311											
DSE	29940	broad.mit.edu	37	chr6	116758204	116758204	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatgaagaaatgaaagAccttttagattttgcagatg	10	3	0	8			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:116758204A>G	uc003pws.2	+	6	2767	c.2573A>G	c.(2572-2574)GAC>GGC	p.D858G	DSE_uc011ebg.1_Missense_Mutation_p.D877G|DSE_uc003pwt.2_Missense_Mutation_p.D858G|DSE_uc003pwu.2_Missense_Mutation_p.D525G	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN	dermatan sulfate epimerase precursor	858					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			ovary(1)	1		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GAAATGAAAGACCTTTTAGAT	0.388													G	116758204	A	G	116758204	3	3	27	1	0	0	0	0	1	0	0	0	4774	275	10	3	2591	3	DSE	6	116758204	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	215913	116758204	54356863	3361	27312											
ZUFSP	221302	broad.mit.edu	37	chr6	116987885	116987885	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctctatttttccacagaaTggacattcaggaggactgta	8	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:116987885T>C	uc003pxf.1	-	2	717	c.471A>G	c.(469-471)CCA>CCG	p.P157P	ZUFSP_uc010kef.1_Intron	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	157	C2H2-type 2.					intracellular	zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TTCCACAGAATGGACATTCAG	0.373													C	116987885	T	C	116987885	2	2	27	1	0	0	0	0	0	0	0	1	18243	1451	51	3		3	ZUFSP	6	116987885	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	229681	116987885	54127182	3362	27313											
KPNA5	3841	broad.mit.edu	37	chr6	117019870	117019870	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctttttaaatttttagaacCtaatccaccaatagatcaag	3	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:117019870C>A	uc003pxh.2	+	5	475	c.344C>A	c.(343-345)CCT>CAT	p.P115H		NM_002269	NP_002260	O15131	IMA5_HUMAN	karyopherin alpha 5	112	ARM 1; truncated.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(3)|skin(1)	4		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TTTTTAGAACCTAATCCACCA	0.318													A	117019870	C	A	117019870	3	1	27	1	0	0	0	0	1	0	0	0	8433	681	24	5	362	5	KPNA5	6	117019870	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	31985	117019870	54095197	3363	27314											
GPRC6A	222545	broad.mit.edu	37	chr6	117113550	117113550	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcttgagaaaggcagactTtgtgttaatctcttgcttac	8	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:117113550T>C	uc003pxj.1	-	6	2558	c.2536A>G	c.(2536-2538)AAG>GAG	p.K846E	GPRC6A_uc003pxk.1_Missense_Mutation_p.K671E|GPRC6A_uc003pxl.1_Missense_Mutation_p.K775E	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	846	Cytoplasmic (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AAGGCAGACTTTGTGTTAATC	0.398													C	117113550	T	C	117113550	3	2	27	1	0	0	0	0	1	0	0	0	6728	1850	64	3	248	3	GPRC6A	6	117113550	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	93680	117113550	54001517	3364	27315											
RFX6	222546	broad.mit.edu	37	chr6	117237196	117237196	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacgctcataatgatgtacaAaactcactgccagtgtatcc	6	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:117237196A>G	uc003pxm.2	+	8	869	c.806A>G	c.(805-807)AAA>AGA	p.K269R		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	269					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						ATGATGTACAAAACTCACTGC	0.313													G	117237196	A	G	117237196	3	3	27	1	0	0	0	0	1	0	0	0	13267	14	1	3	836	3	RFX6	6	117237196	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	123646	117237196	53877871	3365	27316											
ROS1	6098	broad.mit.edu	37	chr6	117715341	117715341	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaccagttcatccatgatgAaatacattctttgataaagc	5	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:117715341A>G	uc003pxp.1	-	10	1347	c.1148T>C	c.(1147-1149)TTC>TCC	p.F383S	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	383	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATCCATGATGAAATACATTCT	0.338			T	GOPC|ROS1	glioblastoma|NSCLC								G	117715341	A	G	117715341	3	3	27	1	0	0	0	0	1	0	0	0	13531	246	9	3	6031	3	ROS1	6	117715341	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	478145	117715341	53399726	3366	27317											
DCBLD1	285761	broad.mit.edu	37	chr6	117861842	117861842	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctataggtgtttcagggTaactctaactttcgggaccc	9	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:117861842T>C	uc003pxs.2	+	10	1238	c.1113T>C	c.(1111-1113)GGT>GGC	p.G371G	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Silent_p.G371G|DCBLD1_uc003pxt.1_Silent_p.G26G	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	371	F5/8 type C.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(1)	1		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TGTTTCAGGGTAACTCTAACT	0.428													C	117861842	T	C	117861842	2	2	27	1	0	0	0	0	0	0	0	1	4280	1625	57	3		3	DCBLD1	6	117861842	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	146501	117861842	53253225	3367	27318											
ASF1A	25842	broad.mit.edu	37	chr6	119221946	119221946	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctagacttggaatggaaaaTtatctatgtgggctctgcag	11	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:119221946T>C	uc011ebn.1	+	2	462	c.125T>C	c.(124-126)ATT>ACT	p.I42T		NM_014034	NP_054753	Q9Y294	ASF1A_HUMAN	ASF1 anti-silencing function 1 homolog A	42	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent	chromatin remodeling complex	chromatin binding|histone binding				0		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		GAATGGAAAATTATCTATGTG	0.368													C	119221946	T	C	119221946	3	2	27	1	0	0	0	0	1	0	0	0	1037	1493	52	3	18	3	ASF1A	6	119221946	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1360104	119221946	51893121	3368	27319											
FAM184A	79632	broad.mit.edu	37	chr6	119341193	119341193	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcatccagactttgggTtttgcttcgcaaaaaagctc	7	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:119341193T>G	uc003pyj.2	-	4	1630	c.1282A>C	c.(1282-1284)ACC>CCC	p.T428P	FAM184A_uc003pyk.3_Missense_Mutation_p.T308P|FAM184A_uc003pyl.3_Missense_Mutation_p.T308P	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	428	Potential.									ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						AGACTTTGGGTTTTGCTTCGC	0.398													G	119341193	T	G	119341193	3	3	27	1	0	0	0	0	1	0	0	0	5511	1725	60	5	2200	5	FAM184A	6	119341193	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	119247	119341193	51773874	3369	27320											
C6orf170	221322	broad.mit.edu	37	chr6	121452891	121452891	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cataataaaagcttgtcaagAtcattgtctaatcagaaaga	6	6	4	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:121452891A>T	uc003pyo.1	-	25	2849	c.2781T>A	c.(2779-2781)GAT>GAA	p.D927E	C6orf170_uc003pyq.1_RNA|C6orf170_uc010kej.1_Missense_Mutation_p.D26E|C6orf170_uc003pyp.1_Missense_Mutation_p.D487E	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	927					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		GCTTGTCAAGATCATTGTCTA	0.279													T	121452891	A	T	121452891	3	4	27	1	0	0	0	0	1	0	0	0	2344	330	12	5	1024	5	C6orf170	6	121452891	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2111698	121452891	49662176	3370	27321											
GJA1	2697	broad.mit.edu	37	chr6	121768523	121768523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgatccagtggtacatctAtggattcagcttgagtgctg	12	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:121768523A>G	uc003pyr.2	+	2	780	c.530A>G	c.(529-531)TAT>TGT	p.Y177C	GJA1_uc011ebo.1_Missense_Mutation_p.Y78C|GJA1_uc011ebp.1_5'UTR	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	177	Helical; (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TGGTACATCTATGGATTCAGC	0.488													G	121768523	A	G	121768523	3	3	27	1	0	0	0	0	1	0	0	0	6400	449	16	3	532	3	GJA1	6	121768523	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	315632	121768523	49346544	3371	27322											
GJA1	2697	broad.mit.edu	37	chr6	121768775	121768775	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagccctgccaaagactgtgGgtctcaaaaatatgcttatt	9	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:121768775G>T	uc003pyr.2	+	2	1032	c.782G>T	c.(781-783)GGG>GTG	p.G261V	GJA1_uc011ebo.1_Missense_Mutation_p.G162V|GJA1_uc011ebp.1_Missense_Mutation_p.G49V	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	261	Cytoplasmic (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	AAAGACTGTGGGTCTCAAAAA	0.522													T	121768775	G	T	121768775	3	4	27	1	0	0	0	0	1	0	0	0	6400	1232	43	5	784	5	GJA1	6	121768775	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	252	121768775	49346292	3372	27323											
SERINC1	57515	broad.mit.edu	37	chr6	122777743	122777743	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatatacagctttatagccaAccaaaatgttacaagggaca	7	8	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:122777743A>G	uc003pyy.1	-	3	324	c.254T>C	c.(253-255)GTT>GCT	p.V85A		NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN	serine incorporator 1	85	Lumenal (Potential).				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.126)		TTTATAGCCAACCAAAATGTT	0.338													G	122777743	A	G	122777743	3	3	27	1	0	0	0	0	1	0	0	0	14079	43	2	3	1139	3	SERINC1	6	122777743	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1008968	122777743	48337324	3373	27324											
CLVS2	134829	broad.mit.edu	37	chr6	123332155	123332155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggtggatattttgcgtGccatcttactttctttagaa	8	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:123332155G>A	uc003pzi.1	+	3	1284	c.415G>A	c.(415-417)GCC>ACC	p.A139T		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	139	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						TATTTTGCGTGCCATCTTACT	0.383													A	123332155	G	A	123332155	3	1	27	1	0	0	0	0	1	0	0	0	3572	1319	46	2	421	2	CLVS2	6	123332155	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	554412	123332155	47782912	3374	27325											
TPD52L1	7164	broad.mit.edu	37	chr6	125541286	125541286	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtagccagtgctgacttcTctagcatgctctctgaggag	11	11	2	2	rs150625143	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:125541286T>C	uc003pzu.1	+	2	301	c.82T>C	c.(82-84)TCT>CCT	p.S28P	TPD52L1_uc003pzv.1_Missense_Mutation_p.S28P|TPD52L1_uc003pzw.1_Missense_Mutation_p.S28P|TPD52L1_uc003pzx.1_5'UTR|TPD52L1_uc003pzy.1_5'UTR|TPD52L1_uc003pzz.1_5'UTR	NM_003287	NP_003278	Q16890	TPD53_HUMAN	tumor protein D52-like 1 isoform 1	28	Potential.				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		TGCTGACTTCTCTAGCATGCT	0.388													C	125541286	T	C	125541286	3	2	27	1	0	0	0	0	1	0	0	0	16395	1551	54	3	88	3	TPD52L1	6	125541286	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2209131	125541286	45573781	3375	27326											
HDDC2	51020	broad.mit.edu	37	chr6	125621699	125621699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaccggtctttgttaagaCggtcatctttgatcaccata	7	10	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:125621699C>T	uc003qaa.1	-	2	395	c.191G>A	c.(190-192)CGT>CAT	p.R64H	HDDC2_uc003qab.1_RNA	NM_016063	NP_057147	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	64	HD.						metal ion binding|phosphoric diester hydrolase activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		TTTGTTAAGACGGTCATCTTT	0.488													T	125621699	C	T	125621699	3	4	27	1	0	0	0	0	1	0	0	0	7016	536	19	1	443	1	HDDC2	6	125621699	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	80413	125621699	45493368	3376	27327											
NCOA7	135112	broad.mit.edu	37	chr6	126203608	126203608	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaaggccttgaaacccattGaaagagtcttatcgtctact	8	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:126203608G>A	uc010kes.2	+	9	1059	c.610G>A	c.(610-612)GAA>AAA	p.E204K	NCOA7_uc003qae.3_Missense_Mutation_p.E204K|NCOA7_uc003qah.2_Missense_Mutation_p.E204K|NCOA7_uc003qai.2_Missense_Mutation_p.E204K|NCOA7_uc010ket.2_Missense_Mutation_p.E100K|NCOA7_uc003qaf.2_Missense_Mutation_p.E204K|NCOA7_uc003qag.2_Missense_Mutation_p.E204K	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	204					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GAAACCCATTGAAAGAGTCTT	0.338													A	126203608	G	A	126203608	3	1	27	1	0	0	0	0	1	0	0	0	10234	1291	45	4	632	4	NCOA7	6	126203608	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	581909	126203608	44911459	3377	27328											
HINT3	135114	broad.mit.edu	37	chr6	126293417	126293417	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttacagttgagaacatggTaactgttggaaaaaccattc	8	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:126293417T>C	uc003qal.3	+	3	595	c.332T>C	c.(331-333)GTA>GCA	p.V111A	HINT3_uc010keu.2_Missense_Mutation_p.V2A	NM_138571	NP_612638	Q9NQE9	HINT3_HUMAN	histidine triad nucleotide binding protein 3	111	HIT.					mitochondrion|nucleolus	hydrolase activity				0				UCEC - Uterine corpus endometrioid carcinoma (4;0.153)|GBM - Glioblastoma multiforme(226;0.0321)		GAGAACATGGTAACTGTTGGA	0.343													C	126293417	T	C	126293417	3	2	27	1	0	0	0	0	1	0	0	0	7113	1638	57	3	342	3	HINT3	6	126293417	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	89809	126293417	44821650	3378	27329											
RSPO3	84870	broad.mit.edu	37	chr6	127476519	127476519	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaaagggtaacctgtgTcccccaacaaatgagacaag	9	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:127476519T>C	uc003qar.2	+	4	860	c.570T>C	c.(568-570)TGT>TGC	p.C190C	RSPO3_uc003qas.1_Silent_p.C190C	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	R-spondin 3 precursor	190	TSP type-1.					extracellular region	heparin binding				0				GBM - Glioblastoma multiforme(226;0.0555)		GTAACCTGTGTCCCCCAACAA	0.433													C	127476519	T	C	127476519	2	2	27	1	0	0	0	0	0	0	0	1	13711	1673	58	3		3	RSPO3	6	127476519	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1183102	127476519	43638548	3379	27330											
RNF146	81847	broad.mit.edu	37	chr6	127608346	127608346	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaacctagcaagagagagCtctgctgacggagcggacag	14	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:127608346C>T	uc003qav.2	+	3	747	c.588C>T	c.(586-588)AGC>AGT	p.S196S	RNF146_uc003qat.2_Silent_p.S195S|RNF146_uc003qau.2_Silent_p.S195S|RNF146_uc003qaw.2_Silent_p.S195S	NM_030963	NP_112225	Q9NTX7	RN146_HUMAN	ring finger protein 146	196					positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		CAAGAGAGAGCTCTGCTGACG	0.468													T	127608346	C	T	127608346	2	4	27	1	0	0	0	0	0	0	0	1	13448	796	28	2		2	RNF146	6	127608346	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	131827	127608346	43506721	3380	27331											
C6orf174	387104	broad.mit.edu	37	chr6	127796643	127796643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttggccacgtagatgcgcGcctcggtgatgatggtgctc	15	11	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:127796643G>A	uc003qbd.2	-	6	3393	c.2528C>T	c.(2527-2529)GCG>GTG	p.A843V	C6orf174_uc003qbc.2_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	843						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		GTAGATGCGCGCCTCGGTGAT	0.652													A	127796643	G	A	127796643	3	1	27	1	0	0	0	0	1	0	0	0	2345	1087	38	1	323	1	C6orf174	6	127796643	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	188297	127796643	43318424	3381	27332											
C6orf174	387104	broad.mit.edu	37	chr6	127836177	127836177	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtccatctcggttctcaGctcatcgatctcgttctgag	8	14	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:127836177G>T	uc003qbd.2	-	3	1982	c.1117C>A	c.(1117-1119)CTG>ATG	p.L373M		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	373	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		TCGGTTCTCAGCTCATCGATC	0.537													T	127836177	G	T	127836177	3	4	27	1	0	0	0	0	1	0	0	0	2345	962	34	5	1746	5	C6orf174	6	127836177	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	39534	127836177	43278890	3382	27333											
C6orf174	387104	broad.mit.edu	37	chr6	127837612	127837612	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgcgattgtctgtcgcaGcgaactgtccctcggtctag	13	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:127837612G>A	uc003qbd.2	-	2	1013	c.148C>T	c.(148-150)CTG>TTG	p.L50L		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	50						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		GTCTGTCGCAGCGAACTGTCC	0.542													A	127837612	G	A	127837612	2	1	27	1	0	0	0	0	0	0	0	1	2345	962	34	2		2	C6orf174	6	127837612	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1435	127837612	43277455	3383	27334											
THEMIS	387357	broad.mit.edu	37	chr6	128040898	128040898	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaaatcattctgactaCcaatcagtacttttgaatcc	3	13	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:128040898C>A	uc003qbi.2	-	6	2148	c.1829G>T	c.(1828-1830)GGT>GTT	p.G610V	THEMIS_uc010kfa.2_Missense_Mutation_p.G513V|THEMIS_uc011ebt.1_Missense_Mutation_p.G649V|THEMIS_uc010kfb.2_Missense_Mutation_p.G575V	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	610					negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4						ATTCTGACTACCAATCAGTAC	0.433													A	128040898	C	A	128040898	3	1	27	1	0	0	0	0	1	0	0	0	15857	507	18	5	104	5	THEMIS	6	128040898	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	203286	128040898	43074169	3384	27335											
THEMIS	387357	broad.mit.edu	37	chr6	128135079	128135080	+	Splice_Site	INS	-	-	A													gattatatcttttcgaactaINSaaaagaaaaaataaatcact							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:128135078_128135079T>TA	uc011ebt.2	-	4	859	c.710_splice	c.e4-1	p.F237_splice	THEMIS_uc010kfa.3_Splice_Site_p.F140_splice|THEMIS_uc021zfa.1_Splice_Site_p.F237_splice|THEMIS_uc010kfb.3_Splice_Site_p.F202_splice	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	237	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CTTTTCGAACTAAAAAGAAAAA	0.327													A	128135080	-	A	128135079	8	5	27	1	0	1	1	0	0	0	1	0	15857	377	13	0		0	THEMIS	6	128135079	Splice_Site	INS	-	TCGA-BR-6452-01A-12D-1800-08	94181	128135079	42979988	3385	27336											
PTPRK	5796	broad.mit.edu	37	chr6	128302346	128302346	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctgtcaggtggcagcatgTccatgaaacggttcttgtca	11	9	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:128302346T>C	uc003qbk.2	-	25	3990	c.3623A>G	c.(3622-3624)GAC>GGC	p.D1208G	PTPRK_uc003qbj.2_Missense_Mutation_p.D1209G|PTPRK_uc010kfc.2_Missense_Mutation_p.D1215G|PTPRK_uc011ebu.1_Missense_Mutation_p.D1231G	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1208	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGGCAGCATGTCCATGAAACG	0.453													C	128302346	T	C	128302346	3	2	27	1	0	0	0	0	1	0	0	0	12805	1667	58	3	720	3	PTPRK	6	128302346	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	167267	128302346	42812721	3386	27337											
PTPRK	5796	broad.mit.edu	37	chr6	128388793	128388793	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggctcaggtaggtttccCggggggagttctgcagcaaa	16	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:128388793C>T	uc003qbk.2	-	12	2395	c.2028G>A	c.(2026-2028)CCG>CCA	p.P676P	PTPRK_uc003qbj.2_Silent_p.P676P|PTPRK_uc010kfc.2_Silent_p.P676P|PTPRK_uc011ebu.1_Silent_p.P676P|PTPRK_uc003qbl.1_Silent_p.P546P|PTPRK_uc011ebv.1_Silent_p.P676P	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	676	Extracellular (Potential).|Fibronectin type-III 4.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GTAGGTTTCCCGGGGGGAGTT	0.547													T	128388793	C	T	128388793	2	4	27	1	0	0	0	0	0	0	0	1	12805	639	23	1		1	PTPRK	6	128388793	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	86447	128388793	42726274	3387	27338											
PTPRK	5796	broad.mit.edu	37	chr6	128410836	128410836	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaagtatgagcataccAtcttcatcagtttgaataat	6	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:128410836A>G	uc003qbk.2	-	8	1831	c.1464T>C	c.(1462-1464)GAT>GAC	p.D488D	PTPRK_uc003qbj.2_Silent_p.D488D|PTPRK_uc010kfc.2_Silent_p.D488D|PTPRK_uc011ebu.1_Silent_p.D488D|PTPRK_uc003qbl.1_Silent_p.D358D|PTPRK_uc011ebv.1_Silent_p.D488D	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	488	Extracellular (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGAGCATACCATCTTCATCAG	0.373													G	128410836	A	G	128410836	2	3	27	1	0	0	0	0	0	0	0	1	12805	231	8	3		3	PTPRK	6	128410836	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	22043	128410836	42704231	3388	27339											
LAMA2	3908	broad.mit.edu	37	chr6	129636704	129636704	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaagggcattgtttttcaAcatccagagattgttgccca	8	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:129636704A>G	uc003qbn.2	+	25	3744	c.3639A>G	c.(3637-3639)CAA>CAG	p.Q1213Q	LAMA2_uc003qbo.2_Silent_p.Q1213Q	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1213	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTGTTTTTCAACATCCAGAGA	0.458													G	129636704	A	G	129636704	2	3	27	1	0	0	0	0	0	0	0	1	8606	40	2	3		3	LAMA2	6	129636704	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1225868	129636704	41478363	3389	27340											
LAMA2	3908	broad.mit.edu	37	chr6	129704342	129704342	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacaagagcaaagtccctgGgagaattcattaaggagctt	10	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:129704342G>T	uc003qbn.2	+	35	5140	c.5035G>T	c.(5035-5037)GGA>TGA	p.G1679*	LAMA2_uc003qbo.2_Nonsense_Mutation_p.G1679*	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1679	Domain II and I.|Potential.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAAGTCCCTGGGAGAATTCAT	0.458													T	129704342	G	T	129704342	4	4	27	1	0	0	0	0	0	1	0	0	8606	1233	43	5	5173	5	LAMA2	6	129704342	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	67638	129704342	41410725	3390	27341											
LAMA2	3908	broad.mit.edu	37	chr6	129799866	129799866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaatctgaagaaatattccGgctgcctcaaagatattgaa	7	7	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:129799866G>A	uc003qbn.2	+	53	7585	c.7480G>A	c.(7480-7482)GGC>AGC	p.G2494S	LAMA2_uc003qbo.2_Missense_Mutation_p.G2490S	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2494	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAAATATTCCGGCTGCCTCAA	0.393													A	129799866	G	A	129799866	3	1	27	1	0	0	0	0	1	0	0	0	8606	1116	39	1	7694	1	LAMA2	6	129799866	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	95524	129799866	41315201	3391	27342											
LAMA2	3908	broad.mit.edu	37	chr6	129802444	129802444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttcctaagcctggttttGtggagctctcccctgtgcca	10	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:129802444G>A	uc003qbn.2	+	54	7714	c.7609G>A	c.(7609-7611)GTG>ATG	p.V2537M	LAMA2_uc003qbo.2_Missense_Mutation_p.V2533M|uc003qbq.2_RNA	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2537	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCCTGGTTTTGTGGAGCTCTC	0.408													A	129802444	G	A	129802444	3	1	27	1	0	0	0	0	1	0	0	0	8606	1377	48	4	7827	4	LAMA2	6	129802444	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2578	129802444	41312623	3392	27343											
LAMA2	3908	broad.mit.edu	37	chr6	129826384	129826384	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcaagaaggaattctttatGtagatggggcttccaacaga	11	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:129826384G>T	uc003qbn.2	+	60	8692	c.8587G>T	c.(8587-8589)GTA>TTA	p.V2863L	LAMA2_uc003qbo.2_Missense_Mutation_p.V2859L|uc003qbq.2_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2863	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AATTCTTTATGTAGATGGGGC	0.398													T	129826384	G	T	129826384	3	4	27	1	0	0	0	0	1	0	0	0	8606	1377	48	5	8829	5	LAMA2	6	129826384	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	23940	129826384	41288683	3393	27344											
L3MBTL3	84456	broad.mit.edu	37	chr6	130381225	130381225	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatggattcaaagttggcatGaaattagaaggcgtggatcc	12	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:130381225G>A	uc003qbt.2	+	10	974	c.804G>A	c.(802-804)ATG>ATA	p.M268I	L3MBTL3_uc003qbu.2_Missense_Mutation_p.M243I	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 isoform a	268	MBT 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AAGTTGGCATGAAATTAGAAG	0.393													A	130381225	G	A	130381225	3	1	27	1	0	0	0	0	1	0	0	0	8593	1290	45	4	834	4	L3MBTL3	6	130381225	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	554841	130381225	40733842	3394	27345											
SAMD3	154075	broad.mit.edu	37	chr6	130465868	130465868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccacctttgtgagcctctCcctttctaaatataaagaaa	5	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:130465868C>T	uc003qbv.2	-	13	1686	c.1360G>A	c.(1360-1362)GAG>AAG	p.E454K	SAMD3_uc003qbx.2_Missense_Mutation_p.E454K|SAMD3_uc003qbw.2_Missense_Mutation_p.E454K	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	454										ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GTGAGCCTCTCCCTTTCTAAA	0.443													T	130465868	C	T	130465868	3	4	27	1	0	0	0	0	1	0	0	0	13820	864	30	4	206	4	SAMD3	6	130465868	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	84643	130465868	40649199	3395	27346											
EPB41L2	2037	broad.mit.edu	37	chr6	131220650	131220650	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcatgatgtaggtcaAcaccatacatggaaagcctc	9	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:131220650A>T	uc003qch.2	-	8	1399	c.1217T>A	c.(1216-1218)GTT>GAT	p.V406D	EPB41L2_uc003qcg.1_Missense_Mutation_p.V406D|EPB41L2_uc011eby.1_Missense_Mutation_p.V406D|EPB41L2_uc003qci.2_Missense_Mutation_p.V406D|EPB41L2_uc010kfk.2_Missense_Mutation_p.V406D|EPB41L2_uc010kfl.1_Missense_Mutation_p.V406D	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	406	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATGTAGGTCAACACCATACAT	0.428													T	131220650	A	T	131220650	3	4	27	1	0	0	0	0	1	0	0	0	5153	43	2	5	1848	5	EPB41L2	6	131220650	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	754782	131220650	39894417	3396	27347											
EPB41L2	2037	broad.mit.edu	37	chr6	131277431	131277431	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgctctccgatgtttccttCtctctcttctggcggcgtag	9	14	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:131277431C>T	uc003qch.2	-	2	377	c.195G>A	c.(193-195)GAG>GAA	p.E65E	EPB41L2_uc003qcg.1_Silent_p.E65E|EPB41L2_uc011eby.1_Silent_p.E65E|EPB41L2_uc003qci.2_Silent_p.E65E|EPB41L2_uc010kfk.2_Silent_p.E65E|EPB41L2_uc010kfl.1_Silent_p.E65E	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	65					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATGTTTCCTTCTCTCTCTTCT	0.363													T	131277431	C	T	131277431	2	4	27	1	0	0	0	0	0	0	0	1	5153	912	32	4		4	EPB41L2	6	131277431	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	56781	131277431	39837636	3397	27348											
EPB41L2	2037	broad.mit.edu	37	chr6	131277633	131277633	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcagtagtcatggccacaGcttatgctgtaatcaaaaca	7	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:131277633G>T	uc003qch.2	-	2	175	c.-7C>A	c.(-9--5)AGCTG>AGATG		EPB41L2_uc003qcg.1_Translation_Start_Site|EPB41L2_uc011eby.1_Translation_Start_Site|EPB41L2_uc003qci.2_Translation_Start_Site|EPB41L2_uc010kfk.2_Translation_Start_Site|EPB41L2_uc010kfl.1_Translation_Start_Site	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2						cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CATGGCCACAGCTTATGCTGT	0.393													T	131277633	G	T	131277633	1	4	27	1	0	0	0	0	0	0	0	0	5153	986	34	5		5	EPB41L2	6	131277633	Translation_Start_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	202	131277633	39837434	3398	27349											
MED23	9439	broad.mit.edu	37	chr6	131915302	131915302	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggaacccaaggattttcctCtcgtgcattcatagcgcatt	8	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:131915302C>T	uc003qcs.1	-	23	3343	c.3169G>A	c.(3169-3171)GAG>AAG	p.E1057K	MED23_uc003qcq.2_Missense_Mutation_p.E1063K|MED23_uc003qcr.1_5'Flank|MED23_uc011eca.1_Missense_Mutation_p.E698K	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	1057					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GGATTTTCCTCTCGTGCATTC	0.433													T	131915302	C	T	131915302	3	4	27	1	0	0	0	0	1	0	0	0	9441	922	32	4	972	4	MED23	6	131915302	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	637669	131915302	39199765	3399	27350											
MED23	9439	broad.mit.edu	37	chr6	131915477	131915477	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agataagtcactggacgatcTgccaagaaaaaaacatacca	7	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:131915477T>C	uc003qcs.1	-	23	3170	c.2996_splice	c.e23-1	p.D999_splice	MED23_uc003qcq.2_Splice_Site_p.D1005_splice|MED23_uc003qcr.1_5'Flank|MED23_uc011eca.1_Intron	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a						regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTGGACGATCTGCCAAGAAAA	0.393													C	131915477	T	C	131915477	5	2	27	1	0	0	0	0	0	0	1	0	9441	1594	55	3	1147	3	MED23	6	131915477	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	175	131915477	39199590	3400	27351											
MED23	9439	broad.mit.edu	37	chr6	131927653	131927653	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagggaatgaggtattggaaTctgtagcttggagttgtcat	14	3	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:131927653T>A	uc003qcs.1	-	13	1507	c.1333A>T	c.(1333-1335)ATT>TTT	p.I445F	MED23_uc003qcq.2_Missense_Mutation_p.I451F|MED23_uc011eca.1_Missense_Mutation_p.I86F|MED23_uc003qct.1_Missense_Mutation_p.I451F|MED23_uc011ecb.1_RNA	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	445					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GGTATTGGAATCTGTAGCTTG	0.348													A	131927653	T	A	131927653	3	1	27	1	0	0	0	0	1	0	0	0	9441	1435	50	5	2848	5	MED23	6	131927653	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	12176	131927653	39187414	3401	27352											
ENPP3	5169	broad.mit.edu	37	chr6	131992414	131992414	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggaattcattcaaaatacAtgagagctatgtatcctacc	7	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:131992414A>G	uc003qcu.3	+	8	936	c.589A>G	c.(589-591)ATG>GTG	p.M197V	ENPP3_uc010kfn.1_RNA|ENPP3_uc011ecc.1_Missense_Mutation_p.M163V|ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.M197V	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	197	Extracellular (Potential).|Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TTCAAAATACATGAGAGCTAT	0.378													G	131992414	A	G	131992414	3	3	27	1	0	0	0	0	1	0	0	0	5131	217	8	3	615	3	ENPP3	6	131992414	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	64761	131992414	39122653	3402	27353											
ENPP1	5167	broad.mit.edu	37	chr6	132190497	132190497	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggattttttttttctcctaGgcatggaacaaggcagttgt	11	6	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:132190497G>A	uc011ecf.1	+	13	1294	c.1274_splice	c.e13-1	p.G425_splice	ENPP1_uc003qcy.2_Splice_Site_p.G55_splice	NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase						3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTTTCTCCTAGGCATGGAACA	0.318													A	132190497	G	A	132190497	5	1	27	1	0	0	0	0	0	0	1	0	5129	1014	35	4	1323	4	ENPP1	6	132190497	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	198083	132190497	38924570	3403	27354											
MOXD1	26002	broad.mit.edu	37	chr6	132636881	132636881	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgggtaataaagaaggtaTgagagacacatttcactcct	9	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:132636881T>C	uc003qdf.2	-	10	1500	c.1401A>G	c.(1399-1401)TCA>TCG	p.S467S	MOXD1_uc003qde.2_Silent_p.S399S	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	467	Lumenal (Potential).				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		AAAGAAGGTATGAGAGACACA	0.373													C	132636881	T	C	132636881	2	2	27	1	0	0	0	0	0	0	0	1	9720	1451	51	3		3	MOXD1	6	132636881	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	446384	132636881	38478186	3404	27355											
MOXD1	26002	broad.mit.edu	37	chr6	132695860	132695860	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttccatggcatattctagAtggtaatcttgctgagcatc	8	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:132695860A>G	uc003qdf.2	-	2	420	c.321T>C	c.(319-321)CAT>CAC	p.H107H	MOXD1_uc003qde.2_Silent_p.H39H	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	107	Lumenal (Potential).|DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CATATTCTAGATGGTAATCTT	0.338													G	132695860	A	G	132695860	2	3	27	1	0	0	0	0	0	0	0	1	9720	330	12	3		3	MOXD1	6	132695860	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	58979	132695860	38419207	3405	27356											
TAAR5	9038	broad.mit.edu	37	chr6	132909949	132909949	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagttgaagtaagcaaAccagataaagatgtcaaaga	11	5	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:132909949A>C	uc003qdk.2	-	1	929	c.877T>G	c.(877-879)TTT>GTT	p.F293V		NM_003967	NP_003958	O14804	TAAR5_HUMAN	trace amine associated receptor 5	293	Helical; Name=7; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		AAGTAAGCAAACCAGATAAAG	0.488													C	132909949	A	C	132909949	3	2	27	1	0	0	0	0	1	0	0	0	15488	43	2	5	140	5	TAAR5	6	132909949	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	214089	132909949	38205118	3406	27357											
VNN2	8875	broad.mit.edu	37	chr6	133072393	133072393	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttaaatgacagcaaagcTccttttgacagactgtaagg	9	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:133072393T>C	uc003qdt.2	-	5	1102	c.1091A>G	c.(1090-1092)GAG>GGG	p.E364G	VNN2_uc003qds.2_Missense_Mutation_p.E73G|VNN2_uc010kgb.2_Intron|VNN2_uc003qdv.2_Missense_Mutation_p.E311G	NM_004665	NP_004656	O95498	VNN2_HUMAN	vanin 2 isoform 1 precursor	364					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		ACAGCAAAGCTCCTTTTGACA	0.393													C	133072393	T	C	133072393	3	2	27	1	0	0	0	0	1	0	0	0	17180	1551	54	3	483	3	VNN2	6	133072393	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	162444	133072393	38042674	3407	27358											
C6orf192	116843	broad.mit.edu	37	chr6	133092043	133092043	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatacctttttctccttgaAtactccagtagataaaacaa	3	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:133092043A>G	uc003qdw.1	-	13	1442	c.1290T>C	c.(1288-1290)TAT>TAC	p.Y430Y	C6orf192_uc010kgd.1_RNA	NM_052831	NP_439896	Q6NT16	CF192_HUMAN	hypothetical protein LOC116843	430	Cytoplasmic (Potential).				transmembrane transport	integral to membrane				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;0.00303)|GBM - Glioblastoma multiforme(226;0.0265)		TTCTCCTTGAATACTCCAGTA	0.303													G	133092043	A	G	133092043	2	3	27	1	0	0	0	0	0	0	0	1	2349	108	4	3		3	C6orf192	6	133092043	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	19650	133092043	38023024	3408	27359											
EYA4	2070	broad.mit.edu	37	chr6	133834178	133834178	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaagaacaacgttggaggTatgtgtggctttttcaatct	10	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:133834178T>C	uc003qec.3	+	16	1959	c.1501_splice	c.e16+2	p.G501_splice	EYA4_uc011ecq.1_Splice_Site_p.G447_splice|EYA4_uc011ecr.1_Splice_Site_p.G453_splice|EYA4_uc003qed.3_Splice_Site_p.G501_splice|EYA4_uc003qee.3_Splice_Site_p.G478_splice|EYA4_uc011ecs.1_Splice_Site_p.G507_splice|uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a						anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		ACGTTGGAGGTATGTGTGGCT	0.378													C	133834178	T	C	133834178	5	2	27	1	0	0	0	0	0	0	1	0	5331	1652	57	3	1561	3	EYA4	6	133834178	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	742135	133834178	37280889	3409	27360											
TCF21	6943	broad.mit.edu	37	chr6	134210807	134210807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacgcgcgagagcgggcccGcatgcgagtgctgagcaagg	17	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:134210807G>A	uc003qei.3	+	1	548	c.272G>A	c.(271-273)CGC>CAC	p.R91H	uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.R91H	NM_003206	NP_003197	O43680	TCF21_HUMAN	transcription factor 21	91	Basic motif.				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity				0	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		GAGCGGGCCCGCATGCGAGTG	0.682													A	134210807	G	A	134210807	3	1	27	1	0	0	0	0	1	0	0	0	15688	1087	38	1	274	1	TCF21	6	134210807	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	376629	134210807	36904260	3410	27361											
TCF21	6943	broad.mit.edu	37	chr6	134210965	134210965	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgacaaatacgagaacgggTacattcacccggtcaacctg	9	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:134210965T>C	uc003qei.3	+	1	706	c.430T>C	c.(430-432)TAC>CAC	p.Y144H	uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.Y144H	NM_003206	NP_003197	O43680	TCF21_HUMAN	transcription factor 21	144					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity				0	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CGAGAACGGGTACATTCACCC	0.667													C	134210965	T	C	134210965	3	2	27	1	0	0	0	0	1	0	0	0	15688	1638	57	3	432	3	TCF21	6	134210965	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	158	134210965	36904102	3411	27362											
ALDH8A1	64577	broad.mit.edu	37	chr6	135271131	135271131	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatctatatatgagctacAaggtaaaaattttccatcta	5	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:135271131A>G	uc003qew.2	-	1	114	c.61T>C	c.(61-63)TGT>CGT	p.C21R	ALDH8A1_uc003qex.2_Missense_Mutation_p.C21R|ALDH8A1_uc010kgh.2_5'UTR|ALDH8A1_uc011ecx.1_Missense_Mutation_p.C21R	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8A1 isoform 1	21					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		TATGAGCTACAAGGTAAAAAT	0.398													G	135271131	A	G	135271131	3	3	27	1	0	0	0	0	1	0	0	0	505	130	5	3	1430	3	ALDH8A1	6	135271131	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1060166	135271131	35843936	3412	27363											
AHI1	54806	broad.mit.edu	37	chr6	135751062	135751062	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagtactgtctttggtatggAttaacaaacgttttccattg	8	6	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:135751062A>T	uc003qgi.2	-	18	2834	c.2450T>A	c.(2449-2451)ATC>AAC	p.I817N	AHI1_uc003qgf.2_RNA|AHI1_uc003qgg.2_Missense_Mutation_p.I267N|AHI1_uc003qgh.2_Missense_Mutation_p.I817N|AHI1_uc003qgj.2_Missense_Mutation_p.I817N|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.I817N	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	817	WD 5.					adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TTTGGTATGGATTAACAAACG	0.299													T	135751062	A	T	135751062	3	4	27	1	0	0	0	0	1	0	0	0	413	333	12	5	1245	5	AHI1	6	135751062	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	479931	135751062	35364005	3413	27364											
AHI1	54806	broad.mit.edu	37	chr6	135778714	135778714	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaaatcataaaatctgActtaagtctatcagttcggt	8	6	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:135778714A>G	uc003qgi.2	-	9	1453	c.1069T>C	c.(1069-1071)TCA>CCA	p.S357P	AHI1_uc003qgh.2_Missense_Mutation_p.S357P|AHI1_uc003qgj.2_Missense_Mutation_p.S357P|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.S357P	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	357						adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		ATAAAATCTGACTTAAGTCTA	0.358													G	135778714	A	G	135778714	3	3	27	1	0	0	0	0	1	0	0	0	413	275	10	3	2662	3	AHI1	6	135778714	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	27652	135778714	35336353	3414	27365											
PDE7B	27115	broad.mit.edu	37	chr6	136173140	136173140	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgccactatggttaaatgTcttgtttaatggttgaggta	10	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:136173140T>C	uc003qgp.2	+	1	307	c.4T>C	c.(4-6)TCT>CCT	p.S2P		NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	2					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(1)	1	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	TGGTTAAATGTCTTGTTTAAT	0.403													C	136173140	T	C	136173140	3	2	27	1	0	0	0	0	1	0	0	0	11652	1667	58	3	6	3	PDE7B	6	136173140	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	394426	136173140	34941927	3415	27366											
PDE7B	27115	broad.mit.edu	37	chr6	136472325	136472325	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggtaacactgttgtgccAcctcttcaatacccatggac	7	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:136472325A>G	uc003qgp.2	+	6	713	c.410A>G	c.(409-411)CAC>CGC	p.H137R	uc003qgq.1_Intron|PDE7B_uc003qgr.2_Missense_Mutation_p.H189R	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	137					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(1)	1	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	CTGTTGTGCCACCTCTTCAAT	0.383													G	136472325	A	G	136472325	3	3	27	1	0	0	0	0	1	0	0	0	11652	159	6	3	432	3	PDE7B	6	136472325	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	299185	136472325	34642742	3416	27367											
BCLAF1	9774	broad.mit.edu	37	chr6	136601001	136601001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatctagaattggagcgacCcatttcttttctcctaatca	6	10	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:136601001C>T	uc003qgx.1	-	3	257	c.4G>A	c.(4-6)GGT>AGT	p.G2S	BCLAF1_uc003qgw.1_Missense_Mutation_p.G2S|BCLAF1_uc003qgy.1_Missense_Mutation_p.G2S|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.G2S	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	2					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTGGAGCGACCCATTTCTTTT	0.303													T	136601001	C	T	136601001	3	4	27	1	0	0	0	0	1	0	0	0	1383	623	22	4	2802	4	BCLAF1	6	136601001	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	128676	136601001	34514066	3417	27368											
MAP7	9053	broad.mit.edu	37	chr6	136677924	136677924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgttgtacatggaagtgCagacacctctgggcatagta	12	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:136677924C>T	uc003qgz.2	-	16	2167	c.1921G>A	c.(1921-1923)GCA>ACA	p.A641T	MAP7_uc011edf.1_Missense_Mutation_p.A626T|MAP7_uc011edg.1_Missense_Mutation_p.A671T|MAP7_uc010kgu.2_Missense_Mutation_p.A663T|MAP7_uc011edh.1_Missense_Mutation_p.A626T|MAP7_uc010kgv.2_Missense_Mutation_p.A663T|MAP7_uc010kgs.2_Missense_Mutation_p.A495T|MAP7_uc011edi.1_Missense_Mutation_p.A495T|MAP7_uc010kgq.1_Missense_Mutation_p.A547T|MAP7_uc003qha.1_Missense_Mutation_p.A604T	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	641					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CATGGAAGTGCAGACACCTCT	0.408													T	136677924	C	T	136677924	3	4	27	1	0	0	0	0	1	0	0	0	9266	710	25	2	340	2	MAP7	6	136677924	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	76923	136677924	34437143	3418	27369											
PEX7	5191	broad.mit.edu	37	chr6	137187764	137187764	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagtcttcctttttactaGgtgatcagactctgagaata	7	8	4	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:137187764G>A	uc003qhd.2	+	6	629	c.527_splice	c.e6-1	p.G176_splice	PEX7_uc010kgx.2_Splice_Site	NM_000288	NP_000279	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7						ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		CTTTTTACTAGGTGATCAGAC	0.393													A	137187764	G	A	137187764	5	1	27	1	0	0	0	0	0	0	1	0	11751	1014	35	4	548	4	PEX7	6	137187764	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	509840	137187764	33927303	3419	27370											
PEX7	5191	broad.mit.edu	37	chr6	137187813	137187813	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcagcaggagtaagaaTcgtgattcctgcacatcagg	13	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:137187813T>A	uc003qhd.2	+	6	677	c.575T>A	c.(574-576)ATC>AAC	p.I192N	PEX7_uc010kgx.2_RNA	NM_000288	NP_000279	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	192					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		GGAGTAAGAATCGTGATTCCT	0.428													A	137187813	T	A	137187813	3	1	27	1	0	0	0	0	1	0	0	0	11751	1435	50	5	597	5	PEX7	6	137187813	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	49	137187813	33927254	3420	27371											
IFNGR1	3459	broad.mit.edu	37	chr6	137519370	137519370	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attctgagtcagataaggagCtatgtgattccagacagctg	11	7	2	4	rs121913188		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:137519370C>A	uc003qho.2	-	7	1371	c.1268G>T	c.(1267-1269)AGC>ATC	p.S423I	IFNGR1_uc011edm.1_Missense_Mutation_p.S395I	NM_000416	NP_000407	P15260	INGR1_HUMAN	interferon gamma receptor 1 precursor	423	Cytoplasmic (Potential).				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			upper_aerodigestive_tract(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	AGATAAGGAGCTATGTGATTC	0.413													A	137519370	C	A	137519370	3	1	27	1	0	0	0	0	1	0	0	0	7549	797	28	5	205	5	IFNGR1	6	137519370	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	331557	137519370	33595697	3421	27372											
IFNGR1	3459	broad.mit.edu	37	chr6	137519722	137519722	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggtatgacgtgatgagtgAtacatattttgattcaggtt	11	4	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:137519722A>G	uc003qho.2	-	7	1019	c.916T>C	c.(916-918)TCA>CCA	p.S306P	IFNGR1_uc011edm.1_Missense_Mutation_p.S278P	NM_000416	NP_000407	P15260	INGR1_HUMAN	interferon gamma receptor 1 precursor	306	Cytoplasmic (Potential).				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			upper_aerodigestive_tract(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	GTGATGAGTGATACATATTTT	0.388													G	137519722	A	G	137519722	3	3	27	1	0	0	0	0	1	0	0	0	7549	333	12	3	557	3	IFNGR1	6	137519722	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	352	137519722	33595345	3422	27373											
KIAA1244	57221	broad.mit.edu	37	chr6	138583990	138583990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcaactgctgcttctgcGccttgaggagctgaaggatg	15	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:138583990G>A	uc003qhu.2	+	12	1370	c.1370G>A	c.(1369-1371)CGC>CAC	p.R457H		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	457					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTGCTTCTGCGCCTTGAGGAG	0.602													A	138583990	G	A	138583990	3	1	27	1	0	0	0	0	1	0	0	0	8217	1087	38	1	1416	1	KIAA1244	6	138583990	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1064268	138583990	32531077	3423	27374											
ECT2L	345930	broad.mit.edu	37	chr6	139135710	139135710	+	Frame_Shift_Del	DEL	T	T	-													tcaagaattcttattcgcaaTttttttaagatgcactaaat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:139135709_139135709AT>A	uc003qif.2	+	3	473	c.148_148AT>A	c.(148-150)attfs	p.I50fs	ECT2L_uc021zfx.1_Frame_Shift_Del_p.I50fs|ECT2L_uc011edq.1_5'UTR	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	50					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CTTATTCGCAATTTTTTTAAG	0.338			"N, Splice, Mis"		ETP ALL								-	139135710	T	-	139135710	7	5	27	1	0	1	0	1	0	0	0	0	4902	1493	52	0	155	0	ECT2L	6	139135710	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	551720	139135710	31979357	3424	27375											
ECT2L	345930	broad.mit.edu	37	chr6	139203916	139203916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggggcccagctcactgtGtgggagaaatagtcacgaag	14	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:139203916G>A	uc003qif.1	+	14	2039	c.1936G>A	c.(1936-1938)GTG>ATG	p.V646M	ECT2L_uc011edq.1_Missense_Mutation_p.V577M	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2	646	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0						AGCTCACTGTGTGGGAGAAAT	0.403													A	139203916	G	A	139203916	3	1	27	1	0	0	0	0	1	0	0	0	4902	1377	48	4	1990	4	ECT2L	6	139203916	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	68206	139203916	31911151	3425	27376											
REPS1	85021	broad.mit.edu	37	chr6	139266690	139266690	+	Frame_Shift_Del	DEL	T	T	-													tatcatggcttacggatcccTttttcacttgccccctgcca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:139266689_139266689CT>C	uc003qii.3	-	2	1002	c.423_423AG>G	c.(421-423)aagfs	p.K141fs	REPS1_uc003qig.4_Frame_Shift_Del_p.K141fs|REPS1_uc011edr.2_Frame_Shift_Del_p.K141fs|REPS1_uc003qij.3_Frame_Shift_Del_p.K141fs|REPS1_uc003qik.3_5'UTR	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	141						coated pit|plasma membrane	SH3 domain binding|calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TTACGGATCCCTTTTTCACTT	0.473													-	139266690	T	-	139266690	7	5	27	1	0	1	0	1	0	0	0	0	13228	1609	56	0	2040	0	REPS1	6	139266690	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	62774	139266690	31848377	3426	27377											
HECA	51696	broad.mit.edu	37	chr6	139487472	139487472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcggtaggccggtggaccTggagaaggacgactaccaga	15	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:139487472T>C	uc003qin.2	+	2	608	c.323T>C	c.(322-324)CTG>CCG	p.L108P		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	108					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CCGGTGGACCTGGAGAAGGAC	0.512													C	139487472	T	C	139487472	3	2	27	1	0	0	0	0	1	0	0	0	7038	1580	55	3	329	3	HECA	6	139487472	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	220782	139487472	31627595	3427	27378											
HECA	51696	broad.mit.edu	37	chr6	139488147	139488148	+	Frame_Shift_Ins	INS	-	-	G													gcggggttggcagttcacagINSggggggacacttcgacaccc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:139488146_139488147A>AG	uc003qin.3	+	1	1282_1283	c.997_998A>AG	c.(997-999)aggfs	p.R333fs		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	333					respiratory tube development			p.H336fs*25(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GGCAGTTCACAGGGGGGGACAC	0.589													G	139488148	-	G	139488147	7	5	27	1	0	1	1	0	0	0	0	0	7038	1000	35	0	1004	0	HECA	6	139488147	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	675	139488147	31626920	3428	27379											
TXLNB	167838	broad.mit.edu	37	chr6	139591760	139591760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgctcagtacgatgttcatCcagctgtacacatggagata	9	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:139591760C>T	uc011eds.1	-	4	685	c.520G>A	c.(520-522)GAT>AAT	p.D174N		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	174	Potential.					cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CGATGTTCATCCAGCTGTACA	0.393													T	139591760	C	T	139591760	3	4	27	1	0	0	0	0	1	0	0	0	16785	855	30	4	1562	4	TXLNB	6	139591760	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	103613	139591760	31523307	3429	27380											
NMBR	4829	broad.mit.edu	37	chr6	142397169	142397169	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagcacaattttagccagGcgtttccgtgtttccatctg	8	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:142397169G>A	uc003qiu.2	-	3	930	c.789C>T	c.(787-789)CGC>CGT	p.R263R		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	263	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TTTTAGCCAGGCGTTTCCGTG	0.393													A	142397169	G	A	142397169	2	1	27	1	0	0	0	0	0	0	0	1	10487	1190	42	2		2	NMBR	6	142397169	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2805409	142397169	28717898	3430	27381											
GPR126	57211	broad.mit.edu	37	chr6	142688767	142688767	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgggacctttacttctccAtgctaccctaacgactaccc	5	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:142688767A>G	uc010khc.2	+	3	576	c.165A>G	c.(163-165)CCA>CCG	p.P55P	GPR126_uc010khd.2_Silent_p.P55P|GPR126_uc010khe.2_Silent_p.P55P|GPR126_uc010khf.2_Silent_p.P55P|GPR126_uc003qix.2_Silent_p.P55P	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	55	CUB.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TTACTTCTCCATGCTACCCTA	0.517													G	142688767	A	G	142688767	2	3	27	1	0	0	0	0	0	0	0	1	6640	204	8	3		3	GPR126	6	142688767	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	291598	142688767	28426300	3431	27382											
GPR126	57211	broad.mit.edu	37	chr6	142714119	142714119	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaattggaactacacggTttatgtcgttaatatcaggt	8	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:142714119T>G	uc010khc.2	+	8	1754	c.1343T>G	c.(1342-1344)GTT>GGT	p.V448G	GPR126_uc010khd.2_Missense_Mutation_p.V420G|GPR126_uc010khe.2_Missense_Mutation_p.V448G|GPR126_uc010khf.2_Missense_Mutation_p.V420G	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	448	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AACTACACGGTTTATGTCGTT	0.294													G	142714119	T	G	142714119	3	3	27	1	0	0	0	0	1	0	0	0	6640	1725	60	5	1373	5	GPR126	6	142714119	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	25352	142714119	28400948	3432	27383											
GPR126	57211	broad.mit.edu	37	chr6	142741057	142741057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttcattgtggtaatggtGcagatctgtgggaggaatgg	16	3	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:142741057G>A	uc010khc.2	+	22	3546	c.3135G>A	c.(3133-3135)GTG>GTA	p.V1045V	GPR126_uc010khd.2_Silent_p.V1017V|GPR126_uc010khe.2_Silent_p.V1045V|GPR126_uc010khf.2_Silent_p.V1017V|GPR126_uc011edv.1_Silent_p.V105V	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	1045	Helical; Name=5; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TGGTAATGGTGCAGATCTGTG	0.458													A	142741057	G	A	142741057	2	1	27	1	0	0	0	0	0	0	0	1	6640	1306	46	2		2	GPR126	6	142741057	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	26938	142741057	28374010	3433	27384											
GPR126	57211	broad.mit.edu	37	chr6	142764510	142764510	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtccttgtcaaaactggCccatgctgatggagatcaaa	9	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:142764510C>T	uc010khc.2	+	26	4068	c.3657C>T	c.(3655-3657)GGC>GGT	p.G1219G	GPR126_uc010khd.2_Silent_p.G1191G|GPR126_uc010khe.2_Missense_Mutation_p.A1204V|GPR126_uc010khf.2_Missense_Mutation_p.A1176V|GPR126_uc011edv.1_Missense_Mutation_p.A264V	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	1219	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TCAAAACTGGCCCATGCTGAT	0.428													T	142764510	C	T	142764510	2	4	27	1	0	0	0	0	0	0	0	1	6640	739	26	2		2	GPR126	6	142764510	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	23453	142764510	28350557	3434	27385											
HIVEP2	3097	broad.mit.edu	37	chr6	143093789	143093789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctcttctctttccggcgtTtcctgttttcacaggtagtt	8	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:143093789T>C	uc003qjd.2	-	5	2830	c.2087A>G	c.(2086-2088)AAA>AGA	p.K696R		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	696					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTTCCGGCGTTTCCTGTTTTC	0.493													C	143093789	T	C	143093789	3	2	27	1	0	0	0	0	1	0	0	0	7187	1841	64	3	5277	3	HIVEP2	6	143093789	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	329279	143093789	28021278	3435	27386											
STX11	8676	broad.mit.edu	37	chr6	144507898	144507898	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacatcctggagtccctgtAccgagacatccgggacattc	9	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:144507898A>G	uc003qks.3	+	2	326	c.134A>G	c.(133-135)TAC>TGC	p.Y45C		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	45	Potential.				cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GAGTCCCTGTACCGAGACATC	0.597									Familial_Hemophagocytic_Lymphohistiocytosis				G	144507898	A	G	144507898	3	3	27	1	0	0	0	0	1	0	0	0	15336	391	14	3	136	3	STX11	6	144507898	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1414109	144507898	26607169	3436	27387											
UTRN	7402	broad.mit.edu	37	chr6	144747473	144747473	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacctgcagcagacgaacagTgagaagatcctgctcagctg	12	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:144747473T>C	uc003qkt.2	+	6	548	c.456T>C	c.(454-456)AGT>AGC	p.S152S	UTRN_uc010khq.1_Silent_p.S152S	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	152	CH 2.|Actin-binding.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGACGAACAGTGAGAAGATCC	0.498													C	144747473	T	C	144747473	2	2	27	1	0	0	0	0	0	0	0	1	17100	1693	59	3		3	UTRN	6	144747473	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	239575	144747473	26367594	3437	27388											
UTRN	7402	broad.mit.edu	37	chr6	144750813	144750813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcaccatagacgccatccGtgaggtagagacactcccaa	9	13	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:144750813G>A	uc003qkt.2	+	8	883	c.791G>A	c.(790-792)CGT>CAT	p.R264H	UTRN_uc010khq.1_Missense_Mutation_p.R264H	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	264	Spectrin 1.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GACGCCATCCGTGAGGTAGAG	0.383													A	144750813	G	A	144750813	3	1	27	1	0	0	0	0	1	0	0	0	17100	1145	40	1	821	1	UTRN	6	144750813	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3340	144750813	26364254	3438	27389											
UTRN	7402	broad.mit.edu	37	chr6	144811253	144811253	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagctaaccctagaggagtTgagaagaaatatgcgttctc	11	7	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:144811253T>C	uc003qkt.2	+	30	4273	c.4181T>C	c.(4180-4182)TTG>TCG	p.L1394S		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1394	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTAGAGGAGTTGAGAAGAAAT	0.463													C	144811253	T	C	144811253	3	2	27	1	0	0	0	0	1	0	0	0	17100	1821	63	3	4299	3	UTRN	6	144811253	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	60440	144811253	26303814	3439	27390											
UTRN	7402	broad.mit.edu	37	chr6	144835835	144835835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccaggttgaaaatgtccGcgatcaagcccttattttga	8	11	1	2	rs115466543	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:144835835G>A	uc003qkt.2	+	36	5215	c.5123G>A	c.(5122-5124)CGC>CAC	p.R1708H		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1708	Interaction with SYNM.|Spectrin 12.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAAAATGTCCGCGATCAAGCC	0.413													A	144835835	G	A	144835835	3	1	27	1	0	0	0	0	1	0	0	0	17100	1087	38	1	5265	1	UTRN	6	144835835	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	24582	144835835	26279232	3440	27391											
UTRN	7402	broad.mit.edu	37	chr6	145156925	145156925	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttgctagggaagacgaGcacgccctcatccagcagta	11	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:145156925G>A	uc003qkt.2	+	69	9767	c.9675G>A	c.(9673-9675)GAG>GAA	p.E3225E		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	3225					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGGAAGACGAGCACGCCCTCA	0.512													A	145156925	G	A	145156925	2	1	27	1	0	0	0	0	0	0	0	1	17100	962	34	2		2	UTRN	6	145156925	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	321090	145156925	25958142	3441	27392											
FBXO30	84085	broad.mit.edu	37	chr6	146126254	146126254	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctcctagacaaaaaagcaAtgctgctgtgatcagatcta	7	9	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:146126254A>G	uc003qla.2	-	2	1487	c.1288T>C	c.(1288-1290)TTG>CTG	p.L430L	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	430							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CAAAAAAGCAATGCTGCTGTG	0.428													G	146126254	A	G	146126254	2	3	27	1	0	0	0	0	0	0	0	1	5740	98	4	3		3	FBXO30	6	146126254	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	969329	146126254	24988813	3442	27393											
SHPRH	257218	broad.mit.edu	37	chr6	146264379	146264379	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagagttgctcttgttgacActggttccattgcaacaagg	10	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:146264379A>G	uc003qlf.2	-	9	2537	c.2138T>C	c.(2137-2139)GTG>GCG	p.V713A	SHPRH_uc003qld.2_Missense_Mutation_p.V713A|SHPRH_uc003qle.2_Missense_Mutation_p.V713A|SHPRH_uc003qlg.1_Missense_Mutation_p.V269A|SHPRH_uc003qlj.1_Missense_Mutation_p.V602A	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	713	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TCTTGTTGACACTGGTTCCAT	0.463													G	146264379	A	G	146264379	3	3	27	1	0	0	0	0	1	0	0	0	14291	159	6	3	3045	3	SHPRH	6	146264379	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	138125	146264379	24850688	3443	27394											
GRM1	2911	broad.mit.edu	37	chr6	146720540	146720540	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgaggccaaatatatcgcgTtcaccatgtacaccacctgt	7	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:146720540T>C	uc010khw.1	+	8	2835	c.2365T>C	c.(2365-2367)TTC>CTC	p.F789L	GRM1_uc010khv.1_Missense_Mutation_p.F789L|GRM1_uc003qll.2_Missense_Mutation_p.F789L|GRM1_uc011edz.1_Missense_Mutation_p.F789L|GRM1_uc011eea.1_Missense_Mutation_p.F789L	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	789	Helical; Name=6; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ATATATCGCGTTCACCATGTA	0.488													C	146720540	T	C	146720540	3	2	27	1	0	0	0	0	1	0	0	0	6796	1725	60	3	2391	3	GRM1	6	146720540	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	456161	146720540	24394527	3444	27395											
GRM1	2911	broad.mit.edu	37	chr6	146755885	146755885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctcccaacgtatcctacGcctctgtcattctgcgggac	7	18	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:146755885G>A	uc010khw.1	+	9	4008	c.3538G>A	c.(3538-3540)GCC>ACC	p.A1180T	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1180	Ser-rich.|Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CGTATCCTACGCCTCTGTCAT	0.617													A	146755885	G	A	146755885	3	1	27	1	0	0	0	0	1	0	0	0	6796	1087	38	1	3633	1	GRM1	6	146755885	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	35345	146755885	24359182	3445	27396											
STXBP5	134957	broad.mit.edu	37	chr6	147655326	147655326	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tattagtgaagggactgttgTtccagaggatcgctgcaaat	12	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:147655326T>A	uc003qlz.2	+	19	2275	c.2114T>A	c.(2113-2115)GTT>GAT	p.V705D	STXBP5_uc010khz.1_Missense_Mutation_p.V705D|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.V376D|STXBP5_uc003qma.2_Missense_Mutation_p.V52D	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	705					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GGGACTGTTGTTCCAGAGGAT	0.318													A	147655326	T	A	147655326	3	1	27	1	0	0	0	0	1	0	0	0	15355	1725	60	5	2188	5	STXBP5	6	147655326	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	899441	147655326	23459741	3446	27397											
SASH1	23328	broad.mit.edu	37	chr6	148848703	148848703	+	Frame_Shift_Del	DEL	A	A	-													cgatgagaaagagaatgtctAaaaaatacagcagctctgtc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:148848702_148848702TA>T	uc003qme.1	+	11	1873	c.1398_1398TA>T	c.(1396-1398)tctfs	p.S466fs	SASH1_uc011eeb.1_Frame_Shift_Del_p.S227fs|SASH1_uc003qmf.1_5'UTR	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	466							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AGAGAATGTCTAAAAAATACA	0.433													-	148848703	A	-	148848703	7	5	27	1	0	1	0	1	0	0	0	0	13848	363	13	0	1445	0	SASH1	6	148848703	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	1193377	148848703	22266364	3447	27398											
SASH1	23328	broad.mit.edu	37	chr6	148854021	148854021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgacgaagagccgccttaCcgaggcccgttctgcgggcg	15	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:148854021C>T	uc003qme.1	+	14	2128	c.1653C>T	c.(1651-1653)TAC>TAT	p.Y551Y	SASH1_uc011eeb.1_Silent_p.Y312Y|SASH1_uc003qmf.1_5'UTR	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	551							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AGCCGCCTTACCGAGGCCCGT	0.582													T	148854021	C	T	148854021	2	4	27	1	0	0	0	0	0	0	0	1	13848	518	18	4		4	SASH1	6	148854021	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5318	148854021	22261046	3448	27399											
SASH1	23328	broad.mit.edu	37	chr6	148865849	148865849	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtgaagctgggcccggctttGaccaggaaggtctcctgtgc	15	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:148865849G>C	uc003qme.1	+	18	3718	c.3243G>C	c.(3241-3243)TTG>TTC	p.L1081F	SASH1_uc011eeb.1_Missense_Mutation_p.L842F|SASH1_uc003qmf.1_Missense_Mutation_p.L491F	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1081							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCCCGGCTTTGACCAGGAAGG	0.622													C	148865849	G	C	148865849	3	2	27	1	0	0	0	0	1	0	0	0	13848	1281	45	5	3313	5	SASH1	6	148865849	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	11828	148865849	22249218	3449	27400											
UST	10090	broad.mit.edu	37	chr6	149340278	149340278	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtattttctcttctaggatAtcaatgagtgtattcttgaa	7	5	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:149340278A>G	uc003qmg.2	+	6	981	c.685A>G	c.(685-687)ATC>GTC	p.I229V		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	229	Lumenal (Potential).				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		CTTCTAGGATATCAATGAGTG	0.398													G	149340278	A	G	149340278	3	3	27	1	0	0	0	0	1	0	0	0	17090	449	16	3	707	3	UST	6	149340278	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	474429	149340278	21774789	3450	27401											
TAB2	23118	broad.mit.edu	37	chr6	149699487	149699487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttggaatgtccagttccTctggtgcttcaaattcagca	8	9	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:149699487T>C	uc003qmj.2	+	3	614	c.436T>C	c.(436-438)TCT>CCT	p.S146P	TAB2_uc011eec.1_Missense_Mutation_p.S114P|TAB2_uc010kia.1_Missense_Mutation_p.S146P|TAB2_uc010kib.1_Missense_Mutation_p.S146P|TAB2_uc003qmk.3_RNA	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	146					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0						GTCCAGTTCCTCTGGTGCTTC	0.443													C	149699487	T	C	149699487	3	2	27	1	0	0	0	0	1	0	0	0	15493	1551	54	3	442	3	TAB2	6	149699487	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	359209	149699487	21415580	3451	27402											
TAB2	23118	broad.mit.edu	37	chr6	149699659	149699659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catacatggtgtacctccacCtgtacttaacagtccacagg	7	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:149699659C>T	uc003qmj.2	+	3	786	c.608C>T	c.(607-609)CCT>CTT	p.P203L	TAB2_uc011eec.1_Missense_Mutation_p.P171L|TAB2_uc010kia.1_Missense_Mutation_p.P203L|TAB2_uc010kib.1_Missense_Mutation_p.P203L|TAB2_uc003qmk.3_RNA	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	203					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0						GTACCTCCACCTGTACTTAAC	0.428													T	149699659	C	T	149699659	3	4	27	1	0	0	0	0	1	0	0	0	15493	681	24	4	614	4	TAB2	6	149699659	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	172	149699659	21415408	3452	27403											
TAB2	23118	broad.mit.edu	37	chr6	149700267	149700267	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtcatgcggaatcagcccAcactcttcatatccacaaac	6	14	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:149700267A>G	uc003qmj.2	+	3	1394	c.1216A>G	c.(1216-1218)ACA>GCA	p.T406A	TAB2_uc011eec.1_Missense_Mutation_p.T374A|TAB2_uc010kia.1_Missense_Mutation_p.T406A|TAB2_uc010kib.1_Missense_Mutation_p.T406A|TAB2_uc003qmk.3_RNA	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	406					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0						GAATCAGCCCACACTCTTCAT	0.512													G	149700267	A	G	149700267	3	3	27	1	0	0	0	0	1	0	0	0	15493	159	6	3	1222	3	TAB2	6	149700267	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	608	149700267	21414800	3453	27404											
C6orf72	116254	broad.mit.edu	37	chr6	149900053	149900053	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggcctatgacatctggtTccagtttgcaactaattgtc	9	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:149900053T>C	uc003qmq.1	+	4	400	c.373T>C	c.(373-375)TCC>CCC	p.S125P	C6orf72_uc010kie.1_Missense_Mutation_p.S5P	NM_138785	NP_620140	Q9NU53	CF072_HUMAN	hypothetical protein LOC116254 precursor	125	Extracellular (Potential).					integral to membrane					0		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)		GACATCTGGTTCCAGTTTGCA	0.303													C	149900053	T	C	149900053	3	2	27	1	0	0	0	0	1	0	0	0	2371	1783	62	3	387	3	C6orf72	6	149900053	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	199786	149900053	21215014	3454	27405											
KATNA1	11104	broad.mit.edu	37	chr6	149924471	149924471	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaacactacggcttccttaAgcaactttttagcttctact	5	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:149924471A>G	uc003qmr.1	-	5	707	c.662T>C	c.(661-663)CTT>CCT	p.L221P	KATNA1_uc003qms.2_Missense_Mutation_p.L221P|KATNA1_uc003qmt.2_Intron|KATNA1_uc011eed.1_Intron	NM_007044	NP_008975	O75449	KTNA1_HUMAN	katanin p60 subunit A 1	221					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			skin(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		GGCTTCCTTAAGCAACTTTTT	0.378													G	149924471	A	G	149924471	3	3	27	1	0	0	0	0	1	0	0	0	7984	72	3	3	837	3	KATNA1	6	149924471	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	24418	149924471	21190596	3455	27406											
KATNA1	11104	broad.mit.edu	37	chr6	149944357	149944357	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacagttgtacttggacgaTtaccatgtgatttagggtca	11	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:149944357T>C	uc003qmr.1	-	3	428	c.383A>G	c.(382-384)AAT>AGT	p.N128S	KATNA1_uc003qms.2_Missense_Mutation_p.N128S|KATNA1_uc003qmt.2_Missense_Mutation_p.N128S|KATNA1_uc011eed.1_Missense_Mutation_p.N128S	NM_007044	NP_008975	O75449	KTNA1_HUMAN	katanin p60 subunit A 1	128	Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			skin(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		ACTTGGACGATTACCATGTGA	0.403													C	149944357	T	C	149944357	3	2	27	1	0	0	0	0	1	0	0	0	7984	1493	52	3	1124	3	KATNA1	6	149944357	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	19886	149944357	21170710	3456	27407											
LATS1	9113	broad.mit.edu	37	chr6	150001426	150001426	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgcatacaaagccttagtAtctacttttcttgctagaca	6	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:150001426A>G	uc003qmu.1	-	5	2726	c.2178T>C	c.(2176-2178)GAT>GAC	p.D726D	LATS1_uc010kif.1_Silent_p.D621D|LATS1_uc003qmv.1_Silent_p.D726D	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	726	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AAGCCTTAGTATCTACTTTTC	0.388													G	150001426	A	G	150001426	2	3	27	1	0	0	0	0	0	0	0	1	8646	446	16	3		3	LATS1	6	150001426	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	57069	150001426	21113641	3457	27408											
LATS1	9113	broad.mit.edu	37	chr6	150001570	150001570	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcatctttctcatttgatcCtgggcatcttgagataatcc	7	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:150001570C>A	uc003qmu.1	-	5	2582	c.2034G>T	c.(2032-2034)CAG>CAT	p.Q678H	LATS1_uc010kif.1_Missense_Mutation_p.Q573H|LATS1_uc003qmv.1_Missense_Mutation_p.Q678H	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	678					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TCATTTGATCCTGGGCATCTT	0.313													A	150001570	C	A	150001570	3	1	27	1	0	0	0	0	1	0	0	0	8646	680	24	5	1374	5	LATS1	6	150001570	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	144	150001570	21113497	3458	27409											
IYD	389434	broad.mit.edu	37	chr6	150713543	150713543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttgtgaaggacccagacGtgaagcacaagattcgaaag	13	7	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:150713543G>A	uc003qnu.1	+	3	573	c.433G>A	c.(433-435)GTG>ATG	p.V145M	IYD_uc003qnv.1_Missense_Mutation_p.V145M|IYD_uc003qnw.1_RNA|IYD_uc003qnx.1_Missense_Mutation_p.V145M|IYD_uc010kik.1_Missense_Mutation_p.V63M	NM_203395	NP_981932	Q6PHW0	IYD1_HUMAN	iodotyrosine dehalogenase 1 isoform 2	145	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				ovary(2)	2		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		GGACCCAGACGTGAAGCACAA	0.488													A	150713543	G	A	150713543	3	1	27	1	0	0	0	0	1	0	0	0	7932	1145	40	1	443	1	IYD	6	150713543	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	711973	150713543	20401524	3459	27410											
PLEKHG1	57480	broad.mit.edu	37	chr6	151161071	151161071	+	Frame_Shift_Del	DEL	C	C	-													ggccagccctcaagaatcctCcctcctgaggtctgtgtcac							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:151161070_151161070TC>T	uc011eem.1	+	15	3461	c.3373_3373TC>T	c.(3373-3375)tccfs	p.S1125fs	PLEKHG1_uc003qny.1_Frame_Shift_Del_p.S1066fs	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	1066					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TCAAGAATCCTCCCTCCTGAG	0.488													-	151161071	C	-	151161071	7	5	27	1	0	1	0	1	0	0	0	0	12068	855	30	0	3255	0	PLEKHG1	6	151161071	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	447528	151161071	19953996	3460	27411											
MTHFD1L	25902	broad.mit.edu	37	chr6	151270190	151270190	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaataaataagactgaTccgagcacactgacagaaga	10	8	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:151270190T>C	uc003qob.2	+	16	1915	c.1647T>C	c.(1645-1647)GAT>GAC	p.D549D	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Silent_p.D550D|MTHFD1L_uc003qoc.2_Silent_p.D497D	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	549	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ATAAGACTGATCCGAGCACAC	0.443													C	151270190	T	C	151270190	2	2	27	1	0	0	0	0	0	0	0	1	9928	1432	50	3		3	MTHFD1L	6	151270190	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	109119	151270190	19844877	3461	27412											
MTHFD1L	25902	broad.mit.edu	37	chr6	151331062	151331062	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgttagtggcaacggtgCgagctctgaagatgcatgga	15	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:151331062C>T	uc003qob.2	+	21	2501	c.2233C>T	c.(2233-2235)CGA>TGA	p.R745*	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Nonsense_Mutation_p.R746*|MTHFD1L_uc003qoc.2_Nonsense_Mutation_p.R693*	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	745	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GGCAACGGTGCGAGCTCTGAA	0.488													T	151331062	C	T	151331062	4	4	27	1	0	0	0	0	0	1	0	0	9928	760	27	1	2315	1	MTHFD1L	6	151331062	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	60872	151331062	19784005	3462	27413											
ZBTB2	57621	broad.mit.edu	37	chr6	151687891	151687891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgaatgagcgggtaggCgtgcagaaacttgatgccct	13	9	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:151687891C>T	uc003qoh.2	-	3	445	c.310G>A	c.(310-312)GCC>ACC	p.A104T		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		AGCGGGTAGGCGTGCAGAAAC	0.522													T	151687891	C	T	151687891	3	4	27	1	0	0	0	0	1	0	0	0	17525	768	27	1	1238	1	ZBTB2	6	151687891	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	356829	151687891	19427176	3463	27414											
C6orf211	79624	broad.mit.edu	37	chr6	151790133	151790133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccataagaacattaaaagCtgaaattcaggttggtctgc	8	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:151790133C>T	uc003qok.1	+	5	1473	c.1214C>T	c.(1213-1215)GCT>GTT	p.A405V	C6orf211_uc011ees.1_Missense_Mutation_p.A286V	NM_024573	NP_078849	Q9H993	CF211_HUMAN	hypothetical protein LOC79624	405							protein binding				0			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		ACATTAAAAGCTGAAATTCAG	0.473													T	151790133	C	T	151790133	3	4	27	1	0	0	0	0	1	0	0	0	2354	797	28	2	1232	2	C6orf211	6	151790133	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	102242	151790133	19324934	3464	27415											
C6orf97	80129	broad.mit.edu	37	chr6	151869554	151869554	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagaaacgatcatgaggcTggcttcagaagtcaacagag	12	8	3	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:151869554T>C	uc003qol.2	+	5	793	c.704T>C	c.(703-705)CTG>CCG	p.L235P		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	235	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		ATCATGAGGCTGGCTTCAGAA	0.398													C	151869554	T	C	151869554	3	2	27	1	0	0	0	0	1	0	0	0	2374	1580	55	3	722	3	C6orf97	6	151869554	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	79421	151869554	19245513	3465	27416											
ESR1	2099	broad.mit.edu	37	chr6	152415579	152415579	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagaaggaccatatccacCgagtcctggacaagatcaca	9	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:152415579C>T	uc003qom.3	+	9	1799	c.1429C>T	c.(1429-1431)CGA>TGA	p.R477*	ESR1_uc010kin.2_Nonsense_Mutation_p.R477*|ESR1_uc010kio.2_Nonsense_Mutation_p.R479*|ESR1_uc010kip.2_Nonsense_Mutation_p.R476*|ESR1_uc003qon.3_Nonsense_Mutation_p.R477*|ESR1_uc003qoo.3_Nonsense_Mutation_p.R477*|ESR1_uc010kiq.2_Nonsense_Mutation_p.R75*|ESR1_uc010kir.2_Nonsense_Mutation_p.R216*|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Nonsense_Mutation_p.R62*|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Nonsense_Mutation_p.R146*|ESR1_uc011eex.1_Intron|ESR1_uc011eey.1_Intron	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	estrogen receptor alpha isoform 4	477	Steroid-binding.|Interaction with AKAP13.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CCATATCCACCGAGTCCTGGA	0.552													T	152415579	C	T	152415579	4	4	27	1	0	0	0	0	0	1	0	0	5256	644	23	1	1455	1	ESR1	6	152415579	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	546025	152415579	18699488	3466	27417											
SYNE1	23345	broad.mit.edu	37	chr6	152453334	152453334	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtccagttcatcagcagaagAccaggaagacaaatcctatg	9	10	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:152453334A>T	uc010kiw.2	-	144	26619	c.26017T>A	c.(26017-26019)TCT>ACT	p.S8673T	SYNE1_uc010kiv.2_Missense_Mutation_p.S3197T|SYNE1_uc003qos.3_Missense_Mutation_p.S3197T|SYNE1_uc003qot.3_Missense_Mutation_p.S8625T|SYNE1_uc003qou.3_Missense_Mutation_p.S8673T|SYNE1_uc003qop.3_Missense_Mutation_p.S858T|SYNE1_uc011eez.1_Missense_Mutation_p.S875T|SYNE1_uc003qoq.3_Missense_Mutation_p.S875T|SYNE1_uc003qor.3_Missense_Mutation_p.S1596T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8673	Ser-rich.|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)		TCAGCAGAAGACCAGGAAGAC	0.502										HNSCC(10;0.0054)			T	152453334	A	T	152453334	3	4	27	1	0	0	0	0	1	0	0	0	15442	275	10	5	388	5	SYNE1	6	152453334	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	37755	152453334	18661733	3467	27418											
SYNE1	23345	broad.mit.edu	37	chr6	152473104	152473104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcaaaaaccttgagtctgCgcaagatggaggtgacacgc	12	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:152473104C>T	uc010kiw.2	-	134	24904	c.24302G>A	c.(24301-24303)CGC>CAC	p.R8101H	SYNE1_uc010kiv.2_Missense_Mutation_p.R2625H|SYNE1_uc003qos.3_Missense_Mutation_p.R2625H|SYNE1_uc003qot.3_Missense_Mutation_p.R8030H|SYNE1_uc003qou.3_Missense_Mutation_p.R8101H|SYNE1_uc003qop.3_Missense_Mutation_p.R263H|SYNE1_uc011eez.1_Missense_Mutation_p.R303H|SYNE1_uc003qoq.3_Missense_Mutation_p.R303H|SYNE1_uc003qor.3_Missense_Mutation_p.R1001H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8101	Spectrin 29.|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)		CTTGAGTCTGCGCAAGATGGA	0.488										HNSCC(10;0.0054)			T	152473104	C	T	152473104	3	4	27	1	0	0	0	0	1	0	0	0	15442	768	27	1	2216	1	SYNE1	6	152473104	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	19770	152473104	18641963	3468	27419											
SYNE1	23345	broad.mit.edu	37	chr6	152539540	152539540	+	Splice_Site	DEL	T	T	-													cataatcaagaactccagccTttttttccacaaaagaaatt					rs35128811		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:152539539_152539539CT>C	uc021zhb.1	-	119	22268	c.22045_splice	c.e119-1	p.A7349_splice	SYNE1_uc003qos.4_Splice_Site_p.A1873_splice|SYNE1_uc003qot.4_Splice_Site_p.A7278_splice|SYNE1_uc003qou.4_Splice_Site_p.A7349_splice|SYNE1_uc003qor.4_Splice_Site_p.A249_splice	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7349					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAACTCCAGCCTTTTTTTCCA	0.343										HNSCC(10;0.0054)			-	152539540	T	-	152539540	8	5	27	1	0	1	0	1	0	0	1	0	15442	1623	56	0	4527	0	SYNE1	6	152539540	Splice_Site	DEL	T	TCGA-BR-6452-01A-12D-1800-08	66436	152539540	18575527	3469	27420											
SYNE1	23345	broad.mit.edu	37	chr6	152558018	152558018	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagacccacgcttgggatGctgctttccaccacctccag	8	17	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:152558018G>A	uc010kiw.2	-	109	20735	c.20133C>T	c.(20131-20133)AGC>AGT	p.S6711S	SYNE1_uc010kiv.2_Silent_p.S1235S|SYNE1_uc003qos.3_Silent_p.S1235S|SYNE1_uc003qot.3_Silent_p.S6640S|SYNE1_uc003qou.3_Silent_p.S6711S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6711	Cytoplasmic (Potential).|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)		CGCTTGGGATGCTGCTTTCCA	0.517										HNSCC(10;0.0054)			A	152558018	G	A	152558018	2	1	27	1	0	0	0	0	0	0	0	1	15442	1310	46	2		2	SYNE1	6	152558018	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	18478	152558018	18557049	3470	27421											
SYNE1	23345	broad.mit.edu	37	chr6	152599230	152599230	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggaaccctcacctgcatGttgagctgcttatcatgcag	10	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:152599230G>A	uc010kiw.2	-	98	19169	c.18567C>T	c.(18565-18567)AAC>AAT	p.N6189N	SYNE1_uc010kiv.2_Silent_p.N713N|SYNE1_uc003qos.3_Silent_p.N713N|SYNE1_uc003qot.3_Silent_p.N6118N|SYNE1_uc003qou.3_Silent_p.N6189N|SYNE1_uc010kiy.1_Silent_p.N368N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6189	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)		TCACCTGCATGTTGAGCTGCT	0.582										HNSCC(10;0.0054)			A	152599230	G	A	152599230	2	1	27	1	0	0	0	0	0	0	0	1	15442	1368	48	4		4	SYNE1	6	152599230	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	41212	152599230	18515837	3471	27422											
SYNE1	23345	broad.mit.edu	37	chr6	152652942	152652942	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttttgatctttcagatctTcaatagcatactttctctcc	4	11	5	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:152652942T>C	uc010kiw.2	-	78	13480	c.12878A>G	c.(12877-12879)GAA>GGA	p.E4293G	SYNE1_uc003qot.3_Missense_Mutation_p.E4222G|SYNE1_uc003qou.3_Missense_Mutation_p.E4293G|SYNE1_uc010kiz.2_Missense_Mutation_p.E48G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4293	Cytoplasmic (Potential).|Spectrin 12.				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)		TTTCAGATCTTCAATAGCATA	0.383										HNSCC(10;0.0054)			C	152652942	T	C	152652942	3	2	27	1	0	0	0	0	1	0	0	0	15442	1783	62	3	13864	3	SYNE1	6	152652942	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	53712	152652942	18462125	3472	27423											
SYNE1	23345	broad.mit.edu	37	chr6	152771898	152771898	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccgcactgggagtttcAcacagagttcctcgatgagc	12	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:152771898A>G	uc010kiw.2	-	27	3859	c.3257T>C	c.(3256-3258)GTG>GCG	p.V1086A	SYNE1_uc003qot.3_Missense_Mutation_p.V1093A|SYNE1_uc003qou.3_Missense_Mutation_p.V1086A|SYNE1_uc010kjb.1_Missense_Mutation_p.V1069A|SYNE1_uc003qow.2_Missense_Mutation_p.V381A|SYNE1_uc003qox.1_Missense_Mutation_p.V602A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1086	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)		TGGGAGTTTCACACAGAGTTC	0.468										HNSCC(10;0.0054)			G	152771898	A	G	152771898	3	3	27	1	0	0	0	0	1	0	0	0	15442	159	6	3	23689	3	SYNE1	6	152771898	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	118956	152771898	18343169	3473	27424											
SYNE1	23345	broad.mit.edu	37	chr6	152771937	152771937	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgtaaccttttctcacagAgatgatgaggacctttgtca	9	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:152771937A>T	uc010kiw.2	-	27	3820	c.3218T>A	c.(3217-3219)CTC>CAC	p.L1073H	SYNE1_uc003qot.3_Missense_Mutation_p.L1080H|SYNE1_uc003qou.3_Missense_Mutation_p.L1073H|SYNE1_uc010kjb.1_Missense_Mutation_p.L1056H|SYNE1_uc003qow.2_Missense_Mutation_p.L368H|SYNE1_uc003qox.1_Missense_Mutation_p.L589H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1073	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)		TTTCTCACAGAGATGATGAGG	0.433										HNSCC(10;0.0054)			T	152771937	A	T	152771937	3	4	27	1	0	0	0	0	1	0	0	0	15442	304	11	5	23728	5	SYNE1	6	152771937	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	39	152771937	18343130	3474	27425											
MYCT1	80177	broad.mit.edu	37	chr6	153043137	153043137	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacaagcttccctggaacaaGcaaattcctttccaagaaaa	6	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:153043137G>T	uc003qpd.3	+	2	465	c.457G>T	c.(457-459)GCA>TCA	p.A153S	MYCT1_uc010kjc.1_Missense_Mutation_p.A105S|MYCT1_uc003qpc.3_Missense_Mutation_p.A153S	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	myc target 1	153						nucleus				ovary(1)	1		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CCTGGAACAAGCAAATTCCTT	0.498													T	153043137	G	T	153043137	3	4	27	1	0	0	0	0	1	0	0	0	10022	971	34	5	463	5	MYCT1	6	153043137	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	271200	153043137	18071930	3475	27426											
FBXO5	26271	broad.mit.edu	37	chr6	153293537	153293537	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaagccagtggggttctgAacataacatattctctggtt	10	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:153293537A>C	uc003qpg.2	-	4	1071	c.962T>G	c.(961-963)TTC>TGC	p.F321C	FBXO5_uc003qph.2_Missense_Mutation_p.F275C	NM_012177	NP_036309	Q9UKT4	FBX5_HUMAN	F-box only protein 5 isoform a	321					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding				0		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		TGGGGTTCTGAACATAACATA	0.333													C	153293537	A	C	153293537	3	2	27	1	0	0	0	0	1	0	0	0	5758	246	9	5	389	5	FBXO5	6	153293537	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	250400	153293537	17821530	3476	27427											
MTRF1L	54516	broad.mit.edu	37	chr6	153312324	153312324	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaattctttttttacctgaAtttttctagcattctgtctt	3	7	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:153312324A>T	uc003qpi.3	-	6	1043	c.938T>A	c.(937-939)ATT>AAT	p.I313N	MTRF1L_uc003qpl.3_Intron|MTRF1L_uc011efa.1_Missense_Mutation_p.I277N|MTRF1L_uc003qpj.3_Missense_Mutation_p.I171N|MTRF1L_uc003qpk.3_Intron	NM_019041	NP_061914	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor	313						mitochondrion	translation release factor activity, codon specific				0		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		TTTTACCTGAATTTTTCTAGC	0.254													T	153312324	A	T	153312324	3	4	27	1	0	0	0	0	1	0	0	0	9960	101	4	5	212	5	MTRF1L	6	153312324	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	18787	153312324	17802743	3477	27428											
OPRM1	4988	broad.mit.edu	37	chr6	154360916	154360916	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcatggccctctactccatCgtgtgcgtggtggggctctt	12	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:154360916C>T	uc003qpr.2	+	1	474	c.237C>T	c.(235-237)ATC>ATT	p.I79I	OPRM1_uc011efb.1_Silent_p.I127I|OPRM1_uc011efc.1_Intron|OPRM1_uc011efd.1_Intron|OPRM1_uc011efe.1_Silent_p.I172I|OPRM1_uc003qpn.2_Silent_p.I79I|OPRM1_uc003qpo.1_Silent_p.I79I|OPRM1_uc011eff.1_Silent_p.I79I|OPRM1_uc011efg.1_Silent_p.I79I|OPRM1_uc011efh.1_Silent_p.I79I|OPRM1_uc003qpq.1_Silent_p.I79I|OPRM1_uc003qpt.1_Silent_p.I79I|OPRM1_uc011efi.1_Silent_p.I79I|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA	NM_000914	NP_000905	P35372	OPRM_HUMAN	opioid receptor, mu 1 isoform MOR-1	79	Helical; Name=1; (Potential).				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			ovary(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TCTACTCCATCGTGTGCGTGG	0.617													T	154360916	C	T	154360916	2	4	27	1	0	0	0	0	0	0	0	1	10887	874	31	1		1	OPRM1	6	154360916	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1048592	154360916	16754151	3478	27429											
RBM16	22828	broad.mit.edu	37	chr6	155113964	155113964	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttttctctagagtaaaaTagtgagagtactaaacttat	6	4	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:155113964T>C	uc003qqa.2	+	6	561	c.329T>C	c.(328-330)ATA>ACA	p.I110T	RBM16_uc011efj.1_Missense_Mutation_p.I176T|RBM16_uc011efk.1_Missense_Mutation_p.I155T|RBM16_uc003qpz.2_Missense_Mutation_p.I110T|RBM16_uc010kji.2_Missense_Mutation_p.I131T	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	110	CID.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)		TAGAGTAAAATAGTGAGAGTA	0.279													C	155113964	T	C	155113964	3	2	27	1	0	0	0	0	1	0	0	0	13118	1406	49	3	347	3	RBM16	6	155113964	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	753048	155113964	16001103	3479	27430											
RBM16	22828	broad.mit.edu	37	chr6	155153655	155153655	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tatttttagtcaaccagaaaGaccttttttagctcctggaa	6	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:155153655G>T	uc003qqa.2	+	21	3174	c.2942G>T	c.(2941-2943)AGA>ATA	p.R981I	TIAM2_uc003qqb.2_5'Flank|RBM16_uc011efj.1_Missense_Mutation_p.R1047I|RBM16_uc011efk.1_Missense_Mutation_p.R1026I|RBM16_uc003qpz.2_Missense_Mutation_p.R981I|RBM16_uc010kji.2_Intron	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	981	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)		CAACCAGAAAGACCTTTTTTA	0.458													T	155153655	G	T	155153655	3	4	27	1	0	0	0	0	1	0	0	0	13118	942	33	5	3020	5	RBM16	6	155153655	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	39691	155153655	15961412	3480	27431											
TIAM2	26230	broad.mit.edu	37	chr6	155503432	155503432	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tataagcgacgttcttcccgAtggcctggcgtatggggaag	14	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:155503432A>G	uc003qqb.2	+	15	4053	c.2780A>G	c.(2779-2781)GAT>GGT	p.D927G	TIAM2_uc003qqe.2_Missense_Mutation_p.D927G|TIAM2_uc010kjj.2_Missense_Mutation_p.D460G|TIAM2_uc003qqf.2_Missense_Mutation_p.D303G|TIAM2_uc011efl.1_Missense_Mutation_p.D263G|TIAM2_uc003qqg.2_Missense_Mutation_p.D239G	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	927	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)		GTTCTTCCCGATGGCCTGGCG	0.493													G	155503432	A	G	155503432	3	3	27	1	0	0	0	0	1	0	0	0	15888	333	12	3	2818	3	TIAM2	6	155503432	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	349777	155503432	15611635	3481	27432											
TIAM2	26230	broad.mit.edu	37	chr6	155577773	155577773	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagggcaggcaggactccAagagcacttctcccgggaaa	13	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:155577773A>G	uc003qqb.2	+	29	5897	c.4624A>G	c.(4624-4626)AAG>GAG	p.K1542E	TIAM2_uc003qqe.2_Missense_Mutation_p.K1542E|TIAM2_uc010kjj.2_Missense_Mutation_p.K1104E|TIAM2_uc003qqf.2_Missense_Mutation_p.K918E|TIAM2_uc011efl.1_Missense_Mutation_p.K886E|TIAM2_uc003qqg.2_Missense_Mutation_p.K854E|TIAM2_uc003qqh.2_Missense_Mutation_p.K467E|uc003qqi.1_RNA	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1542					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)		GCAGGACTCCAAGAGCACTTC	0.587													G	155577773	A	G	155577773	3	3	27	1	0	0	0	0	1	0	0	0	15888	131	5	3	4718	3	TIAM2	6	155577773	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	74341	155577773	15537294	3482	27433											
ARID1B	57492	broad.mit.edu	37	chr6	157495225	157495225	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagacggcaaagaagaaggcActccacagcccgagagcaag	12	12	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:157495225A>G	uc003qqn.2	+	10	3048	c.2896A>G	c.(2896-2898)ACT>GCT	p.T966A	ARID1B_uc003qqo.2_Missense_Mutation_p.T979A|ARID1B_uc003qqp.2_Missense_Mutation_p.T966A|ARID1B_uc010kjl.2_Missense_Mutation_p.T164A	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGAAGAAGGCACTCCACAGCC	0.527													G	157495225	A	G	157495225	3	3	27	1	0	0	0	0	1	0	0	0	914	159	6	3	3151	3	ARID1B	6	157495225	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1917452	157495225	13619842	3483	27434											
ARID1B	57492	broad.mit.edu	37	chr6	157525017	157525017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttactcctgaggcgtggCgtgtgatgatgtcccttaaa	12	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:157525017C>T	uc003qqn.2	+	19	5010	c.4858C>T	c.(4858-4860)CGT>TGT	p.R1620C	ARID1B_uc003qqo.2_Missense_Mutation_p.R1580C|ARID1B_uc003qqp.2_Missense_Mutation_p.R1567C	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1625					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGAGGCGTGGCGTGTGATGAT	0.403													T	157525017	C	T	157525017	3	4	27	1	0	0	0	0	1	0	0	0	914	768	27	1	4986	1	ARID1B	6	157525017	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	29792	157525017	13590050	3484	27435											
C6orf35	729515	broad.mit.edu	37	chr6	157714011	157714011	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttggaaatattgattgcatTttacttcgaaagtcgttcat	8	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:157714011T>G	uc003sih.3	-	4	611	c.348A>C	c.(346-348)AAA>AAC	p.K116N		NM_018452	NP_060922	Q9NWH2	CF035_HUMAN	hypothetical protein LOC729515	116						integral to membrane					0						TTGATTGCATTTTACTTCGAA	0.353													G	157714011	T	G	157714011	3	3	27	1	0	0	0	0	1	0	0	0	2363	1838	64	5	81	5	C6orf35	6	157714011	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	188994	157714011	13401056	3485	27436											
TULP4	56995	broad.mit.edu	37	chr6	158873219	158873219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcaagcctctgctcaccGtcagcttcacctcgggagac	8	16	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:158873219G>A	uc003qrf.2	+	5	2135	c.778G>A	c.(778-780)GTC>ATC	p.V260I	TULP4_uc011efo.1_Missense_Mutation_p.V260I|TULP4_uc003qrg.2_Missense_Mutation_p.V260I	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	260					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TCTGCTCACCGTCAGCTTCAC	0.537													A	158873219	G	A	158873219	3	1	27	1	0	0	0	0	1	0	0	0	16773	1145	40	1	796	1	TULP4	6	158873219	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1159208	158873219	12241848	3486	27437											
TULP4	56995	broad.mit.edu	37	chr6	158925039	158925039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaggaggccaagtgccgGcgggccagtgagaaggagga	20	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:158925039G>A	uc003qrf.2	+	13	5701	c.4344G>A	c.(4342-4344)CGG>CGA	p.R1448R	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1448					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCAAGTGCCGGCGGGCCAGTG	0.672													A	158925039	G	A	158925039	2	1	27	1	0	0	0	0	0	0	0	1	16773	1190	42	2		2	TULP4	6	158925039	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	51820	158925039	12190028	3487	27438											
TAGAP	117289	broad.mit.edu	37	chr6	159457718	159457718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggagcaccgaacccgggGccaagttcttgatcttcagg	14	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:159457718G>A	uc003qrz.2	-	10	1669	c.1337C>T	c.(1336-1338)GCC>GTC	p.A446V	TAGAP_uc011eft.1_Missense_Mutation_p.A383V|TAGAP_uc003qsa.2_Missense_Mutation_p.A268V	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN	T-cell activation Rho GTPase-activating protein	446					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CGAACCCGGGGCCAAGTTCTT	0.597													A	159457718	G	A	159457718	3	1	27	1	0	0	0	0	1	0	0	0	15534	1203	42	2	862	2	TAGAP	6	159457718	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	532679	159457718	11657349	3488	27439											
FNDC1	84624	broad.mit.edu	37	chr6	159653499	159653499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactcagacgaagatgagcGcgctgtgggctccctccacc	13	14	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:159653499G>A	uc010kjv.2	+	11	2155	c.1955G>A	c.(1954-1956)CGC>CAC	p.R652H	FNDC1_uc010kjw.1_Missense_Mutation_p.R537H	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	652						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAAGATGAGCGCGCTGTGGGC	0.677													A	159653499	G	A	159653499	3	1	27	1	0	0	0	0	1	0	0	0	5968	1087	38	1	1997	1	FNDC1	6	159653499	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	195781	159653499	11461568	3489	27440											
MRPL18	29074	broad.mit.edu	37	chr6	160219095	160219095	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaaaccagatgaaacgactAcaaagtgccatgacagaagg	9	9	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:160219095A>T	uc003qsw.3	+	4	611	c.483A>T	c.(481-483)CTA>CTT	p.L161L	MRPL18_uc010kkb.2_RNA|PNLDC1_uc003qsx.1_5'Flank|PNLDC1_uc003qsy.1_5'Flank	NM_014161	NP_054880	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18 precursor	161					rRNA transport|translation	mitochondrial ribosome	5S rRNA binding|structural constituent of ribosome				0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		TGAAACGACTACAAAGTGCCA	0.353													T	160219095	A	T	160219095	2	4	27	1	0	0	0	0	0	0	0	1	9783	378	14	5		5	MRPL18	6	160219095	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	565596	160219095	10895972	3490	27441											
PNLDC1	154197	broad.mit.edu	37	chr6	160221765	160221765	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggagtgctggcgatgtTctgcacccgaggactgctat	15	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:160221765T>A	uc003qsx.1	+	2	176	c.5T>A	c.(4-6)TTC>TAC	p.F2Y	PNLDC1_uc003qsy.1_Intron	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain	2						integral to membrane|nucleus	nucleic acid binding				0		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTGGCGATGTTCTGCACCCGA	0.567													A	160221765	T	A	160221765	3	1	27	1	0	0	0	0	1	0	0	0	12148	1783	62	5	7	5	PNLDC1	6	160221765	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2670	160221765	10893302	3491	27442											
MAS1	4142	broad.mit.edu	37	chr6	160328535	160328535	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agagagtcactctcggaatgActgccgagcagtcatcatct	10	11	5	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:160328535A>T	uc003qsz.2	+	1	562	c.548A>T	c.(547-549)GAC>GTC	p.D183V		NM_002377	NP_002368	P04201	MAS_HUMAN	MAS1 oncogene	183	Extracellular (Potential).				anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			ovary(2)|lung(2)	4		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		TCTCGGAATGACTGCCGAGCA	0.527													T	160328535	A	T	160328535	3	4	27	1	0	0	0	0	1	0	0	0	9320	275	10	5	550	5	MAS1	6	160328535	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	106770	160328535	10786532	3492	27443											
IGF2R	3482	broad.mit.edu	37	chr6	160469473	160469473	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacaactcaggggaacatgtCacgtggaggaaatactacat	11	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:160469473C>T	uc003qta.2	+	18	2560	c.2412C>T	c.(2410-2412)GTC>GTT	p.V804V		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	804	6.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GGGAACATGTCACGTGGAGGA	0.448													T	160469473	C	T	160469473	2	4	27	1	0	0	0	0	0	0	0	1	7576	813	29	4		4	IGF2R	6	160469473	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	140938	160469473	10645594	3493	27444											
IGF2R	3482	broad.mit.edu	37	chr6	160482540	160482540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgttgtgtttcagacctgGctggaaatgagtacgacctg	12	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:160482540G>A	uc003qta.2	+	24	3416	c.3268G>A	c.(3268-3270)GCT>ACT	p.A1090T		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1090	7.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TTCAGACCTGGCTGGAAATGA	0.502													A	160482540	G	A	160482540	3	1	27	1	0	0	0	0	1	0	0	0	7576	1203	42	2	3362	2	IGF2R	6	160482540	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	13067	160482540	10632527	3494	27445											
IGF2R	3482	broad.mit.edu	37	chr6	160484579	160484579	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggaagctttcctcagAcgtctgccccacaagtgaca	10	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:160484579A>T	uc003qta.2	+	27	3951	c.3803A>T	c.(3802-3804)GAC>GTC	p.D1268V		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1268	9.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTTTCCTCAGACGTCTGCCCC	0.537													T	160484579	A	T	160484579	3	4	27	1	0	0	0	0	1	0	0	0	7576	275	10	5	3909	5	IGF2R	6	160484579	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2039	160484579	10630488	3495	27446											
PLG	5340	broad.mit.edu	37	chr6	161127481	161127481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgtgaatacccagggggCttcactgttcagtgtcacta	10	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:161127481C>T	uc003qtm.3	+	2	155	c.92C>T	c.(91-93)GCT>GTT	p.A31V		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	31	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACCCAGGGGGCTTCACTGTTC	0.453													T	161127481	C	T	161127481	3	4	27	1	0	0	0	0	1	0	0	0	12086	797	28	2	98	2	PLG	6	161127481	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	642902	161127481	9987586	3496	27447											
MAP3K4	4216	broad.mit.edu	37	chr6	161455391	161455391	+	Frame_Shift_Del	DEL	C	C	-													agaatctttatggtacctctCcccccagcacacctcgacag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:161455390_161455390TC>T	uc003qtn.3	+	1	394	c.252_252TC>T	c.(250-252)tctfs	p.S84fs	MAP3K4_uc010kkc.1_Frame_Shift_Del_p.S84fs|MAP3K4_uc003qto.3_Frame_Shift_Del_p.S84fs|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	84					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.T83T(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ATGGTACCTCTCCCCCCAGCA	0.473													-	161455391	C	-	161455391	7	5	27	1	0	1	0	1	0	0	0	0	9252	855	30	0	259	0	MAP3K4	6	161455391	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	327910	161455391	9659676	3497	27448											
MAP3K4	4216	broad.mit.edu	37	chr6	161470278	161470278	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtacttcagtagaagggcAgtgcaaagccactcctggaa	12	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:161470278A>G	uc003qtn.2	+	3	1116	c.974A>G	c.(973-975)CAG>CGG	p.Q325R	MAP3K4_uc010kkc.1_Missense_Mutation_p.Q325R|MAP3K4_uc003qto.2_Missense_Mutation_p.Q325R|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	325					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GTAGAAGGGCAGTGCAAAGCC	0.423													G	161470278	A	G	161470278	3	3	27	1	0	0	0	0	1	0	0	0	9252	188	7	3	984	3	MAP3K4	6	161470278	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	14887	161470278	9644789	3498	27449											
PARK2	5071	broad.mit.edu	37	chr6	161781224	161781224	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcggcggctctttcaTcgactctgtaggcctgggga	13	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:161781224T>C	uc003qtx.3	-	11	1315	c.1181A>G	c.(1180-1182)GAT>GGT	p.D394G	PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Missense_Mutation_p.D203G|PARK2_uc003qtw.3_Intron|PARK2_uc003qty.3_Missense_Mutation_p.D366G|PARK2_uc003qtz.3_Missense_Mutation_p.D245G|PARK2_uc011egf.1_Missense_Mutation_p.D68G	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	394					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GGCTCTTTCATCGACTCTGTA	0.502													C	161781224	T	C	161781224	3	2	27	1	0	0	0	0	1	0	0	0	11449	1435	50	3	224	3	PARK2	6	161781224	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	310946	161781224	9333843	3499	27450											
C6orf118	168090	broad.mit.edu	37	chr6	165715755	165715755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacacagggtcttcacgcctGgcgtctcgcagtgcttccac	10	15	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:165715755G>A	uc003qum.3	-	2	92	c.56C>T	c.(55-57)CCA>CTA	p.P19L	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	19											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTTCACGCCTGGCGTCTCGCA	0.512													A	165715755	G	A	165715755	3	1	27	1	0	0	0	0	1	0	0	0	2323	1348	47	4	1385	4	C6orf118	6	165715755	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3934531	165715755	5399312	3500	27451											
PDE10A	10846	broad.mit.edu	37	chr6	165806270	165806270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacataataaaacgacacaaCttttcaagctcaaagctgca	5	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:165806270C>T	uc003qun.2	-	17	1732	c.1491G>A	c.(1489-1491)AAG>AAA	p.K497K	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Silent_p.K427K|PDE10A_uc003quo.2_Silent_p.K507K	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	497					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AACGACACAACTTTTCAAGCT	0.408													T	165806270	C	T	165806270	2	4	27	1	0	0	0	0	0	0	0	1	11630	564	20	4		4	PDE10A	6	165806270	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	90515	165806270	5308797	3501	27452											
BRP44L	51660	broad.mit.edu	37	chr6	166779545	166779545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagaagccagttccgaggCtgtaccttgtaggcaaatct	10	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:166779545C>T	uc011egn.1	-	3	344	c.222G>A	c.(220-222)CAG>CAA	p.Q74Q	BRP44L_uc003qva.2_RNA	NM_016098	NP_057182	Q9Y5U8	BR44L_HUMAN	brain protein 44-like	74						mitochondrion				central_nervous_system(1)	1		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)		OV - Ovarian serous cystadenocarcinoma(33;1.8e-19)|BRCA - Breast invasive adenocarcinoma(81;4.68e-06)|GBM - Glioblastoma multiforme(31;0.000122)		AGTTCCGAGGCTGTACCTTGT	0.438													T	166779545	C	T	166779545	2	4	27	1	0	0	0	0	0	0	0	1	1519	796	28	2		2	BRP44L	6	166779545	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	973275	166779545	4335522	3502	27453											
RPS6KA2	6196	broad.mit.edu	37	chr6	166902367	166902367	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagagagctcgcagcaaactCtgtgcctccccactgaggaa	10	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:166902367C>T	uc003qvb.1	-	10	1080	c.861G>A	c.(859-861)CAG>CAA	p.Q287Q	RPS6KA2_uc011ego.1_Silent_p.Q198Q|RPS6KA2_uc010kkl.1_Silent_p.Q198Q|RPS6KA2_uc003qvc.1_Silent_p.Q295Q|RPS6KA2_uc003qvd.1_Silent_p.Q312Q	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	287	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GCAGCAAACTCTGTGCCTCCC	0.547													T	166902367	C	T	166902367	2	4	27	1	0	0	0	0	0	0	0	1	13651	912	32	4		4	RPS6KA2	6	166902367	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	122822	166902367	4212700	3503	27454											
RPS6KA2	6196	broad.mit.edu	37	chr6	166944731	166944731	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctcttaccttttagggtgGctttcttaaggaccttcatg	9	9	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:166944731G>T	uc003qvb.1	-	3	506	c.287C>A	c.(286-288)GCC>GAC	p.A96D	RPS6KA2_uc011ego.1_Missense_Mutation_p.A7D|RPS6KA2_uc010kkl.1_Missense_Mutation_p.A7D|RPS6KA2_uc003qvc.1_Missense_Mutation_p.A104D|RPS6KA2_uc003qvd.1_Missense_Mutation_p.A121D	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	96	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TTTTAGGGTGGCTTTCTTAAG	0.478													T	166944731	G	T	166944731	3	4	27	1	0	0	0	0	1	0	0	0	13651	1203	42	5	1990	5	RPS6KA2	6	166944731	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	42364	166944731	4170336	3504	27455											
TTLL2	83887	broad.mit.edu	37	chr6	167754976	167754976	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctacgcgtccctcttccagTcgcactcctgcaagaccaag	7	18	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:167754976T>C	uc003qvs.1	+	3	1676	c.1588T>C	c.(1588-1590)TCG>CCG	p.S530P	TTLL2_uc011egr.1_RNA	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	530					protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCTCTTCCAGTCGCACTCCTG	0.532													C	167754976	T	C	167754976	3	2	27	1	0	0	0	0	1	0	0	0	16724	1667	58	3	1598	3	TTLL2	6	167754976	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	810245	167754976	3360091	3505	27456											
SMOC2	64094	broad.mit.edu	37	chr6	168999591	168999591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgagtgtgcgcacggcgGcctctacaagccagtgcagt	13	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:168999591G>A	uc003qws.1	+	8	751	c.731G>A	c.(730-732)GGC>GAC	p.G244D	SMOC2_uc003qwr.1_Missense_Mutation_p.G255D	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	244	Thyroglobulin type-1 2.				signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		GCGCACGGCGGCCTCTACAAG	0.622													A	168999591	G	A	168999591	3	1	27	1	0	0	0	0	1	0	0	0	14802	1203	42	2	794	2	SMOC2	6	168999591	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1244615	168999591	2115476	3506	27457											
SMOC2	64094	broad.mit.edu	37	chr6	169053890	169053890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgaaagaggacggcaaagcgGacaccaagaaacgccacagt	12	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:169053890G>A	uc003qws.1	+	11	1287	c.1267G>A	c.(1267-1269)GAC>AAC	p.D423N	SMOC2_uc003qwr.1_Missense_Mutation_p.D434N|SMOC2_uc011egu.1_Missense_Mutation_p.D100N	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	423					signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CGGCAAAGCGGACACCAAGAA	0.532													A	169053890	G	A	169053890	3	1	27	1	0	0	0	0	1	0	0	0	14802	1174	41	4	1342	4	SMOC2	6	169053890	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	54299	169053890	2061177	3507	27458											
THBS2	7058	broad.mit.edu	37	chr6	169625300	169625300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtccctgtcatcggggaCgccatcgttgtcatcatcag	11	12	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:169625300C>T	uc003qwt.2	-	18	2961	c.2713G>A	c.(2713-2715)GTC>ATC	p.V905I		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	905	TSP type-3 7.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		tcatcggggacgccatcgttg	0.239													T	169625300	C	T	169625300	3	4	27	1	0	0	0	0	1	0	0	0	15851	536	19	1	829	1	THBS2	6	169625300	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	571410	169625300	1489767	3508	27459											
TCTE3	6991	broad.mit.edu	37	chr6	170151476	170151476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctcctttctttcctagGcgtcaccggagcctgctgag	11	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:170151476G>A	uc003qxe.1	-	1	163	c.79C>T	c.(79-81)CCT>TCT	p.P27S	TCTE3_uc003qxf.2_RNA|C6orf70_uc003qxg.1_5'Flank|C6orf70_uc011ehb.1_5'Flank|C6orf70_uc003qxh.1_5'Flank|C6orf70_uc010kky.1_5'Flank	NM_174910	NP_777570	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	27					transport	cytoplasm|dynein complex|membrane|microtubule	motor activity				0		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)		TCTTTCCTAGGCGTCACCGGA	0.602													A	170151476	G	A	170151476	3	1	27	1	0	0	0	0	1	0	0	0	15715	1203	42	2	533	2	TCTE3	6	170151476	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	526176	170151476	963591	3509	27460											
C6orf70	55780	broad.mit.edu	37	chr6	170176102	170176102	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgacggatgagctgtaTcaccatatgcctgagaatcg	10	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:170176102T>A	uc003qxg.1	+	15	1494	c.1461T>A	c.(1459-1461)TAT>TAA	p.Y487*	C6orf70_uc011ehb.1_Nonsense_Mutation_p.Y361*|C6orf70_uc003qxh.1_Nonsense_Mutation_p.Y487*|C6orf70_uc010kky.1_Nonsense_Mutation_p.Y361*|C6orf70_uc003qxi.1_Nonsense_Mutation_p.Y135*	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	hypothetical protein LOC55780	487						integral to membrane				ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		ATGAGCTGTATCACCATATGC	0.373													A	170176102	T	A	170176102	4	1	27	1	0	0	0	0	0	1	0	0	2370	1442	50	5	1519	5	C6orf70	6	170176102	Nonsense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	24626	170176102	938965	3510	27461											
FAM120B	84498	broad.mit.edu	37	chr6	170627418	170627418	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggacaaaaatctccatggTttttccaaaaacccaaaggt	6	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr6:170627418T>G	uc003qxp.2	+	2	1048	c.940T>G	c.(940-942)TTT>GTT	p.F314V	FAM120B_uc003qxo.1_Missense_Mutation_p.F314V|FAM120B_uc011ehd.1_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	314					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		ATCTCCATGGTTTTTCCAAAA	0.378													G	170627418	T	G	170627418	3	3	27	1	0	0	0	0	1	0	0	0	5417	1725	60	5	942	5	FAM120B	6	170627418	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	451316	170627418	487649	3511	27462											
HEATR2	54919	broad.mit.edu	37	chr7	810177	810177	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctgcagccctcccaagAcccgcagatgcgcctgaagc	10	17	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:810177A>G	uc010krz.1	+	9	1873	c.1853A>G	c.(1852-1854)GAC>GGC	p.D618G	HEATR2_uc003siz.2_Missense_Mutation_p.D486G|HEATR2_uc003sja.2_Missense_Mutation_p.D76G|HEATR2_uc003sjb.2_5'UTR|HEATR2_uc003sjc.2_Missense_Mutation_p.D43G	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	618	HEAT 7.						protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CCCTCCCAAGACCCGCAGATG	0.647													G	810177	A	G	810177	3	3	27	1	0	0	0	0	1	0	0	0	7028	275	10	3	1887	3	HEATR2	7	810177	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08		810177	158328486	3512	27463											
SUN1	23353	broad.mit.edu	37	chr7	883126	883126	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggcccccgggcccgtgtcGagagtttattctagggacag	15	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:883126G>A	uc011jvp.1	+	6	706	c.627G>A	c.(625-627)TCG>TCA	p.S209S	SUN1_uc010ksa.1_Silent_p.S230S|SUN1_uc003sje.1_Silent_p.S209S|SUN1_uc003sjf.2_Silent_p.S159S|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_Silent_p.S20S	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	209	SYNE2-binding.|Nuclear.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						GGCCCGTGTCGAGAGTTTATT	0.522													A	883126	G	A	883126	2	1	27	1	0	0	0	0	0	0	0	1	15388	1045	37	1		1	SUN1	7	883126	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	72949	883126	158255537	3513	27464											
C7orf50	84310	broad.mit.edu	37	chr7	1037311	1037311	+	Frame_Shift_Del	DEL	G	G	-													gcgctgggccctccccggcaGggggggatcagagccctcct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:1037310_1037310AG>A	uc003sju.2	-	4	606	c.536_536CT>T	c.(535-537)ctgfs	p.L179fs	C7orf50_uc011jvt.1_Frame_Shift_Del_p.L179fs|C7orf50_uc011jvu.1_Frame_Shift_Del_p.L179fs	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN	Homo sapiens chromosome 7 open reading frame 50 (C7orf50), transcript variant 1, mRNA.	179							protein binding	p.L179fs*>17(2)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CCTCCCCGGCAGGGGGGGATC	0.721													-	1037311	G	-	1037311	7	5	27	1	0	1	0	1	0	0	0	0	2399	991	35	0	53	0	C7orf50	7	1037311	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	154185	1037311	158101352	3514	27465											
GPR146	115330	broad.mit.edu	37	chr7	1097377	1097377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagtggcaggcctggtgCtcagcgccctggcccctgtg	16	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:1097377C>T	uc003sjw.2	+	2	302	c.226C>T	c.(226-228)CTC>TTC	p.L76F	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjx.3_Missense_Mutation_p.L76F|GPR146_uc003sjy.1_Missense_Mutation_p.L76F	NM_138445	NP_612454	Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	76	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		AGGCCTGGTGCTCAGCGCCCT	0.662													T	1097377	C	T	1097377	3	4	27	1	0	0	0	0	1	0	0	0	6652	797	28	2	228	2	GPR146	7	1097377	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	60066	1097377	158041286	3515	27466											
GPER	2852	broad.mit.edu	37	chr7	1131927	1131927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggatggcatccgtgtcagCcacgctggtgcccttcaccg	12	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:1131927C>T	uc010ksd.1	+	2	952	c.563C>T	c.(562-564)GCC>GTC	p.A188V	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.A188V|GPER_uc003ska.1_Missense_Mutation_p.A188V|GPER_uc003skb.2_Missense_Mutation_p.A188V	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	188	Helical; Name=4; (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		TCCGTGTCAGCCACGCTGGTG	0.672													T	1131927	C	T	1131927	3	4	27	1	0	0	0	0	1	0	0	0	6607	739	26	2	565	2	GPER	7	1131927	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	34550	1131927	158006736	3516	27467											
UNCX	340260	broad.mit.edu	37	chr7	1273256	1273256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctggagaaggcgttcaaCgagagccactatcccgacgt	13	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:1273256C>T	uc011jvw.1	+	2	375	c.375C>T	c.(373-375)AAC>AAT	p.N125N		NM_001080461	NP_001073930	A6NJT0	UNC4_HUMAN	UNC homeobox	125	Homeobox.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		AGGCGTTCAACGAGAGCCACT	0.677													T	1273256	C	T	1273256	2	4	27	1	0	0	0	0	0	0	0	1	16995	535	19	1		1	UNCX	7	1273256	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	141329	1273256	157865407	3517	27468											
INTS1	26173	broad.mit.edu	37	chr7	1513960	1513960	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctggaagttgaggtgggtGcggccgtgcaggagcgccgc	19	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:1513960G>T	uc003skn.2	-	41	5774	c.5673C>A	c.(5671-5673)CGC>CGA	p.R1891R	INTS1_uc003skm.1_Silent_p.R28R	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1891					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGAGGTGGGTGCGGCCGTGCA	0.716													T	1513960	G	T	1513960	2	4	27	1	0	0	0	0	0	0	0	1	7775	1306	46	5		5	INTS1	7	1513960	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	240704	1513960	157624703	3518	27469											
INTS1	26173	broad.mit.edu	37	chr7	1526379	1526379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtagcaggtcctgcaggCggcccagcagctgccgctgc	14	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:1526379C>T	uc003skn.2	-	22	2959	c.2858G>A	c.(2857-2859)CGC>CAC	p.R953H	INTS1_uc003skp.1_Missense_Mutation_p.R300H	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	953					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GTCCTGCAGGCGGCCCAGCAG	0.687													T	1526379	C	T	1526379	3	4	27	1	0	0	0	0	1	0	0	0	7775	768	27	1	3822	1	INTS1	7	1526379	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	12419	1526379	157612284	3519	27470											
INTS1	26173	broad.mit.edu	37	chr7	1538925	1538925	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctcctgctcggggctcaGcttctcctccgcgatcagca	10	18	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:1538925G>A	uc003skn.2	-	7	1017	c.916C>T	c.(916-918)CTG>TTG	p.L306L	INTS1_uc003skq.2_Silent_p.L306L	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	306					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCGGGGCTCAGCTTCTCCTCC	0.557													A	1538925	G	A	1538925	2	1	27	1	0	0	0	0	0	0	0	1	7775	962	34	2		2	INTS1	7	1538925	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	12546	1538925	157599738	3520	27471											
MAD1L1	8379	broad.mit.edu	37	chr7	1855722	1855722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctacgccacggtctggCggctgaagagctcgagggtg	17	11	1	2	rs148957172	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:1855722C>T	uc003slh.1	-	19	2407	c.2141G>A	c.(2140-2142)CGC>CAC	p.R714H	MAD1L1_uc003sle.1_Missense_Mutation_p.R443H|MAD1L1_uc003slf.1_Missense_Mutation_p.R714H|MAD1L1_uc003slg.1_Missense_Mutation_p.R714H|MAD1L1_uc010ksh.1_Missense_Mutation_p.R714H|MAD1L1_uc003sli.1_Missense_Mutation_p.R622H|MAD1L1_uc003sld.1_Missense_Mutation_p.R170H	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	714					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CACGGTCTGGCGGCTGAAGAG	0.687													T	1855722	C	T	1855722	3	4	27	1	0	0	0	0	1	0	0	0	9147	768	27	1	19	1	MAD1L1	7	1855722	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	316797	1855722	157282941	3521	27472											
MAD1L1	8379	broad.mit.edu	37	chr7	2262372	2262372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcgcgtcaggagctcctgGttgcggtcgacctcacgctg	14	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:2262372G>A	uc003slh.1	-	5	575	c.309C>T	c.(307-309)AAC>AAT	p.N103N	MAD1L1_uc003slf.1_Silent_p.N103N|MAD1L1_uc003slg.1_Silent_p.N103N|MAD1L1_uc010ksh.1_Silent_p.N103N|MAD1L1_uc003sli.1_5'UTR|MAD1L1_uc010ksi.1_Silent_p.N56N|MAD1L1_uc010ksj.2_Silent_p.N103N	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	103	Potential.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GGAGCTCCTGGTTGCGGTCGA	0.657													A	2262372	G	A	2262372	2	1	27	1	0	0	0	0	0	0	0	1	9147	1252	44	4		4	MAD1L1	7	2262372	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	406650	2262372	156876291	3522	27473											
SNX8	29886	broad.mit.edu	37	chr7	2311504	2311504	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgagccgctgaaggacaggAagagcttgaggaccacatcc	13	12	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:2311504A>G	uc003slw.2	-	4	564	c.521T>C	c.(520-522)TTC>TCC	p.F174S		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	174	PX.				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GAAGGACAGGAAGAGCTTGAG	0.652													G	2311504	A	G	2311504	3	3	27	1	0	0	0	0	1	0	0	0	14908	246	9	3	908	3	SNX8	7	2311504	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	49132	2311504	156827159	3523	27474											
GNA12	2768	broad.mit.edu	37	chr7	2770886	2770886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatggaacacgaagcggaCgttctcggtgtcgatggcgg	16	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:2770886C>T	uc003smu.2	-	4	1239	c.1075G>A	c.(1075-1077)GTC>ATC	p.V359I	GNA12_uc011jwb.1_Missense_Mutation_p.V342I|GNA12_uc003smt.2_Missense_Mutation_p.V300I	NM_007353	NP_031379	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein)	359					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		ACGAAGCGGACGTTCTCGGTG	0.587													T	2770886	C	T	2770886	3	4	27	1	0	0	0	0	1	0	0	0	6500	536	19	1	74	1	GNA12	7	2770886	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	459382	2770886	156367777	3524	27475											
CARD11	84433	broad.mit.edu	37	chr7	2951840	2951840	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttcaatgttggcaggggcgAtgcattcgaacgcgttgggg	16	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:2951840A>T	uc003smv.2	-	23	3514	c.3110T>A	c.(3109-3111)ATC>AAC	p.I1037N		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1037	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGCAGGGGCGATGCATTCGAA	0.577			Mis		DLBCL								T	2951840	A	T	2951840	3	4	27	1	0	0	0	0	1	0	0	0	2645	333	12	5	366	5	CARD11	7	2951840	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	180954	2951840	156186823	3525	27476											
SDK1	221935	broad.mit.edu	37	chr7	4116654	4116654	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagatctcttgggaagtgtAcggcaggaacgactctcgtc	12	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:4116654A>G	uc003smx.2	+	21	3174	c.3035A>G	c.(3034-3036)TAC>TGC	p.Y1012C	SDK1_uc010kso.2_Missense_Mutation_p.Y288C	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1012	Fibronectin type-III 4.				cell adhesion	integral to membrane		p.Y1012Y(1)		large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGGGAAGTGTACGGCAGGAAC	0.547													G	4116654	A	G	4116654	3	3	27	1	0	0	0	0	1	0	0	0	13968	391	14	3	3117	3	SDK1	7	4116654	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1164814	4116654	155022009	3526	27477											
SDK1	221935	broad.mit.edu	37	chr7	4277380	4277380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgttcgccctcgtcctgCacgggcagaataagaagtat	12	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:4277380C>T	uc003smx.2	+	42	6233	c.6094C>T	c.(6094-6096)CAC>TAC	p.H2032Y	SDK1_uc010kso.2_Missense_Mutation_p.H1288Y|SDK1_uc003smy.2_Missense_Mutation_p.H519Y|SDK1_uc003smz.2_Missense_Mutation_p.H92Y	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	2032	Extracellular (Potential).|Cytoplasmic (Potential).				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCTCGTCCTGCACGGGCAGAA	0.567													T	4277380	C	T	4277380	3	4	27	1	0	0	0	0	1	0	0	0	13968	710	25	2	6260	2	SDK1	7	4277380	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	160726	4277380	154861283	3527	27478											
FOXK1	221937	broad.mit.edu	37	chr7	4780606	4780606	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatccacatcccggagccggAcctccggagcatggtcagcc	12	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:4780606A>G	uc003snc.1	+	2	708	c.698A>G	c.(697-699)GAC>GGC	p.D233G	FOXK1_uc003sna.1_Missense_Mutation_p.D70G|FOXK1_uc003snb.1_Missense_Mutation_p.D233G	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	forkhead box K1	233					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			upper_aerodigestive_tract(1)|skin(1)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CCGGAGCCGGACCTCCGGAGC	0.667													G	4780606	A	G	4780606	3	3	27	1	0	0	0	0	1	0	0	0	6014	275	10	3	704	3	FOXK1	7	4780606	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	503226	4780606	154358057	3528	27479											
KIAA0415	9907	broad.mit.edu	37	chr7	4825911	4825911	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtggactcggaagccgTctaccagcacctgttcacca	10	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:4825911T>A	uc003sne.2	+	10	1246	c.1163T>A	c.(1162-1164)GTC>GAC	p.V388D	KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_5'Flank	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	388					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		TCGGAAGCCGTCTACCAGCAC	0.617													A	4825911	T	A	4825911	3	1	27	1	0	0	0	0	1	0	0	0	8175	1667	58	5	1201	5	KIAA0415	7	4825911	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	45305	4825911	154312752	3529	27480											
PAPOLB	56903	broad.mit.edu	37	chr7	4901085	4901085	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacatgacttggtgcaacGcacaaggcgtcaatatctgc	9	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:4901085G>A	uc003snk.2	-	1	541	c.357C>T	c.(355-357)TGC>TGT	p.C119C	RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	118					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TTGGTGCAACGCACAAGGCGT	0.438													A	4901085	G	A	4901085	2	1	27	1	0	0	0	0	0	0	0	1	11430	1079	38	1		1	PAPOLB	7	4901085	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	75174	4901085	154237578	3530	27481											
MMD2	221938	broad.mit.edu	37	chr7	4965157	4965157	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgggcagggactcggtggttCatgaacctggaaggagaggg	19	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:4965157C>T	uc003sno.3	-	2	250	c.54G>A	c.(52-54)ATG>ATA	p.M18I	MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.M18I|MMD2_uc010ksq.2_Missense_Mutation_p.M18I	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	monocyte to macrophage	18	Cytoplasmic (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CTCGGTGGTTCATGAACCTGG	0.567													T	4965157	C	T	4965157	3	4	27	1	0	0	0	0	1	0	0	0	9644	826	29	4	782	4	MMD2	7	4965157	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	64072	4965157	154173506	3531	27482											
RBAK	57786	broad.mit.edu	37	chr7	5104918	5104918	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctcagaaatcatatctcActatacatcatcgaattcat	2	11	6	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:5104918A>G	uc010kss.1	+	6	2155	c.1831A>G	c.(1831-1833)ACT>GCT	p.T611A	LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.T611A	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	611	C2H2-type 13.|Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ATCATATCTCACTATACATCA	0.393													G	5104918	A	G	5104918	3	3	27	1	0	0	0	0	1	0	0	0	13100	159	6	3	1845	3	RBAK	7	5104918	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	139761	5104918	154033745	3532	27483											
WIPI2	26100	broad.mit.edu	37	chr7	5232779	5232779	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggggcatcaagagcagctggTcttggccgtcgcgctgttgt	16	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:5232779T>A	uc003snv.2	+	2	321	c.105T>A	c.(103-105)GGT>GGA	p.G35G	WIPI2_uc003snw.2_Silent_p.G35G|WIPI2_uc003snx.2_Intron|WIPI2_uc003sny.2_Intron|WIPI2_uc010ksv.2_5'UTR	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	35					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GAGCAGCTGGTCTTGGCCGTC	0.378													A	5232779	T	A	5232779	2	1	27	1	0	0	0	0	0	0	0	1	17368	1654	58	5		5	WIPI2	7	5232779	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	127861	5232779	153905884	3533	27484											
WIPI2	26100	broad.mit.edu	37	chr7	5265492	5265492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggccttcagcatggacgGcatgttcctctccgcctcca	9	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:5265492G>A	uc003snv.2	+	9	995	c.779G>A	c.(778-780)GGC>GAC	p.G260D	WIPI2_uc003snw.2_Missense_Mutation_p.G260D|WIPI2_uc003snx.2_Missense_Mutation_p.G242D|WIPI2_uc003sny.2_Missense_Mutation_p.G242D|WIPI2_uc010ksv.2_Missense_Mutation_p.G116D|WIPI2_uc003soa.2_Missense_Mutation_p.G201D|WIPI2_uc003sob.2_Missense_Mutation_p.G3D	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	260	WD 2.				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		AGCATGGACGGCATGTTCCTC	0.552													A	5265492	G	A	5265492	3	1	27	1	0	0	0	0	1	0	0	0	17368	1203	42	2	847	2	WIPI2	7	5265492	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	32713	5265492	153873171	3534	27485											
TNRC18	84629	broad.mit.edu	37	chr7	5352438	5352438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggggagcgccgcctgcGcggaagggccagccgtgggg	22	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:5352438G>A	uc003soi.3	-	27	8433	c.8084C>T	c.(8083-8085)GCG>GTG	p.A2695V		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2695							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGCCGCCTGCGCGGAAGGGCC	0.637													A	5352438	G	A	5352438	3	1	27	1	0	0	0	0	1	0	0	0	16336	1087	38	1	838	1	TNRC18	7	5352438	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	86946	5352438	153786225	3535	27486											
TNRC18	84629	broad.mit.edu	37	chr7	5427427	5427427	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccacaggcgggtgtcgcacTtctgcctcaccctgggcacc	11	18	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:5427427T>A	uc003soi.3	-	5	2377	c.2028A>T	c.(2026-2028)GAA>GAT	p.E676D	TNRC18_uc010ksx.1_Missense_Mutation_p.E602D	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	676							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGTGTCGCACTTCTGCCTCAC	0.721													A	5427427	T	A	5427427	3	1	27	1	0	0	0	0	1	0	0	0	16336	1606	56	5	6982	5	TNRC18	7	5427427	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	74989	5427427	153711236	3536	27487											
RSPH10B2	728194	broad.mit.edu	37	chr7	6006678	6006679	+	Frame_Shift_Ins	INS	-	-	AG													ttggaaaagtctagattatcINSagagagagatgagggagagc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:6006678_6006679insAG	uc003sph.1	-	3	340_341	c.69_70insCT	c.(67-72)TCTGATfs	p.S23fs	RSPH10B2_uc010ktd.1_Frame_Shift_Ins_p.S23fs	NM_173565	NP_775836	B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B	23_24										ovary(1)|pancreas(1)|skin(1)	3						TCTAGATTATCAGAGAGAGATG	0.465													AG	6006679	-	AG	6006678	7	5	27	1	0	1	1	0	0	0	0	0	13704	826	29	0	2618	0	RSPH10B2	7	6006678	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	579251	6006678	153131985	3537	27488											
EIF2AK1	27102	broad.mit.edu	37	chr7	6064312	6064312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaagtccactttcatcccaCgcccccatcctttccgtcat	3	18	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:6064312C>T	uc003spp.2	-	15	2031	c.1885G>A	c.(1885-1887)GTG>ATG	p.V629M	EIF2AK1_uc003spq.2_Missense_Mutation_p.V628M|EIF2AK1_uc011jwm.1_Intron	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha	629					negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TTTCATCCCACGCCCCCATCC	0.373													T	6064312	C	T	6064312	3	4	27	1	0	0	0	0	1	0	0	0	4996	536	19	1	11	1	EIF2AK1	7	6064312	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	57634	6064312	153074351	3538	27489											
COL28A1	340267	broad.mit.edu	37	chr7	7476083	7476083	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatccaggtatcccaggtccTcctctatctccctgtacatt	5	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:7476083T>C	uc003src.1	-	23	1920	c.1803A>G	c.(1801-1803)GGA>GGG	p.G601G	COL28A1_uc011jxe.1_Silent_p.G284G|COL28A1_uc003srd.2_Silent_p.G156G|COL28A1_uc003sre.1_Silent_p.G22G	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	601					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCCCAGGTCCTCCTCTATCTC	0.393													C	7476083	T	C	7476083	2	2	27	1	0	0	0	0	0	0	0	1	3686	1538	54	3		3	COL28A1	7	7476083	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1411771	7476083	151662580	3539	27490											
MIOS	54468	broad.mit.edu	37	chr7	7625282	7625282	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggagatctgaatctcaAtgtggtagcaatggctttat	11	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:7625282A>G	uc003srf.2	+	7	1972	c.1664A>G	c.(1663-1665)AAT>AGT	p.N555S	MIOS_uc003srg.2_Missense_Mutation_p.N90S|MIOS_uc010ktq.2_5'UTR	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	555											0						CTGAATCTCAATGTGGTAGCA	0.368													G	7625282	A	G	7625282	3	3	27	1	0	0	0	0	1	0	0	0	9589	101	4	3	1678	3	MIOS	7	7625282	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	149199	7625282	151513381	3540	27491											
MIOS	54468	broad.mit.edu	37	chr7	7636009	7636009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaacgaaatctaaagtcaCaagttgtcctggctgtcgaa	8	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:7636009C>T	uc003srf.2	+	11	2626	c.2318C>T	c.(2317-2319)ACA>ATA	p.T773I	MIOS_uc003srg.2_Missense_Mutation_p.T308I|MIOS_uc010ktq.2_Missense_Mutation_p.T168I	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	773											0						TCTAAAGTCACAAGTTGTCCT	0.458													T	7636009	C	T	7636009	3	4	27	1	0	0	0	0	1	0	0	0	9589	478	17	4	2348	4	MIOS	7	7636009	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	10727	7636009	151502654	3541	27492											
ICA1	3382	broad.mit.edu	37	chr7	8272362	8272362	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttatcttgagcatatcgaTcctgtaagtcccagggataa	8	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:8272362T>A	uc003srm.2	-	3	108	c.41A>T	c.(40-42)GAT>GTT	p.D14V	ICA1_uc010ktr.2_Missense_Mutation_p.D14V|ICA1_uc003srl.2_Missense_Mutation_p.D2V|ICA1_uc003srn.3_5'UTR|ICA1_uc003srp.3_Missense_Mutation_p.D13V|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.D14V|ICA1_uc003srr.2_Missense_Mutation_p.D13V|ICA1_uc003sro.3_Missense_Mutation_p.D14V|ICA1_uc011jxg.1_Missense_Mutation_p.D14V|ICA1_uc003srs.1_Missense_Mutation_p.D14V	NM_022307	NP_071682	Q05084	ICA69_HUMAN	islet cell autoantigen 1	14					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				central_nervous_system(1)	1		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		AGCATATCGATCCTGTAAGTC	0.333													A	8272362	T	A	8272362	3	1	27	1	0	0	0	0	1	0	0	0	7477	1435	50	5	1458	5	ICA1	7	8272362	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	636353	8272362	150866301	3542	27493											
PHF14	9678	broad.mit.edu	37	chr7	11101630	11101630	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagacaaagacagtctgtgTtgcaaaagaagcccaaggct	11	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:11101630T>C	uc003sry.1	+	16	3007	c.2572T>C	c.(2572-2574)TTG>CTG	p.L858L	PHF14_uc011jxi.1_Silent_p.L573L|PHF14_uc003srz.2_Silent_p.L858L|PHF14_uc011jxj.1_Silent_p.L573L	NM_014660	NP_055475	O94880	PHF14_HUMAN	PHD finger protein 14 isoform 2	858							zinc ion binding			kidney(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		ACAGTCTGTGTTGCAAAAGAA	0.373													C	11101630	T	C	11101630	2	2	27	1	0	0	0	0	0	0	0	1	11825	1722	60	3		3	PHF14	7	11101630	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2829268	11101630	148037033	3543	27494											
THSD7A	221981	broad.mit.edu	37	chr7	11422208	11422208	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgggaagagcccttccaagCactggccatccatttatatt	8	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:11422208C>A	uc003ssf.3	-	23	4699	c.4447G>T	c.(4447-4449)GCT>TCT	p.A1483S	uc003ssb.2_Intron|THSD7A_uc003ssd.3_5'Flank	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1483	Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCCTTCCAAGCACTGGCCATC	0.423										HNSCC(18;0.044)			A	11422208	C	A	11422208	3	1	27	1	0	0	0	0	1	0	0	0	15876	710	25	5	546	5	THSD7A	7	11422208	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	320578	11422208	147716455	3544	27495											
THSD7A	221981	broad.mit.edu	37	chr7	11676020	11676020	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggccccacatgcaggctGtacctgagctcctcggcctc	11	17	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:11676020G>T	uc003ssf.3	-	2	1011	c.759C>A	c.(757-759)TAC>TAA	p.Y253*		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	253	Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CATGCAGGCTGTACCTGAGCT	0.602										HNSCC(18;0.044)			T	11676020	G	T	11676020	4	4	27	1	0	0	0	0	0	1	0	0	15876	1372	48	5	4318	5	THSD7A	7	11676020	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	253812	11676020	147462643	3545	27496											
TMEM106B	54664	broad.mit.edu	37	chr7	12271530	12271530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagaggtatcagtatgtcGactgtggaagaaacacaact	12	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:12271530G>A	uc011jxk.1	+	9	1154	c.754G>A	c.(754-756)GAC>AAC	p.D252N	TMEM106B_uc003ssh.2_Missense_Mutation_p.D252N	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	252						integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		TCAGTATGTCGACTGTGGAAG	0.373													A	12271530	G	A	12271530	3	1	27	1	0	0	0	0	1	0	0	0	16018	1058	37	1	780	1	TMEM106B	7	12271530	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	595510	12271530	146867133	3546	27497											
DGKB	1607	broad.mit.edu	37	chr7	14188809	14188809	+	Frame_Shift_Del	DEL	T	T	-													gagggagcagaataaaccggTttttggaggcgggcccatca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:14188808_14188808GT>G	uc003ssz.3	-	24	2550	c.2363_2363AC>C	c.(2362-2364)accfs	p.T788fs	DGKB_uc011jxt.2_Frame_Shift_Del_p.T769fs	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	788					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			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GAATAAACCGGTTTTTGGAGG	0.403													-	14188809	T	-	14188809	7	5	27	1	0	1	0	1	0	0	0	0	4466	1725	60	0	56	0	DGKB	7	14188809	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	1917279	14188809	144949854	3547	27498											
DGKB	1607	broad.mit.edu	37	chr7	14724957	14724957	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgttaaagtgcttcagtcGccacacgtgctgtccatcat	8	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:14724957G>A	uc003ssz.2	-	9	929	c.742C>T	c.(742-744)CGA>TGA	p.R248*	DGKB_uc011jxt.1_Nonsense_Mutation_p.R241*|DGKB_uc003sta.2_Nonsense_Mutation_p.R248*|DGKB_uc011jxu.1_Nonsense_Mutation_p.R248*|DGKB_uc011jxv.1_Nonsense_Mutation_p.R248*	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	248	Phorbol-ester/DAG-type 1.				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)	TGCTTCAGTCGCCACACGTGC	0.458													A	14724957	G	A	14724957	4	1	27	1	0	0	0	0	0	1	0	0	4466	1095	38	1	1755	1	DGKB	7	14724957	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	536148	14724957	144413706	3548	27499											
SOSTDC1	25928	broad.mit.edu	37	chr7	16505200	16505200	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttaaccacatgtgaataaaGgatttctgtggcatcatttt	7	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:16505200G>T	uc003stg.2	-	1	275	c.94C>A	c.(94-96)CTT>ATT	p.L32I	SOSTDC1_uc003sth.2_Missense_Mutation_p.L32I	NM_015464	NP_056279	Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1 precursor	32					Wnt receptor signaling pathway					ovary(2)|central_nervous_system(1)	3	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TGTGAATAAAGGATTTCTGTG	0.448													T	16505200	G	T	16505200	3	4	27	1	0	0	0	0	1	0	0	0	14939	1000	35	5	534	5	SOSTDC1	7	16505200	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1780243	16505200	142633463	3549	27500											
TSPAN13	27075	broad.mit.edu	37	chr7	16815998	16815998	+	Frame_Shift_Del	DEL	T	T	-													aacatcatcaggtgttgctaTtttttgtatcctttttaaaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:16815997_16815997AT>A	uc003stq.3	+	1	467	c.225_225AT>A	c.(223-225)ctafs	p.L75fs		NM_014399	NP_055214	O95857	TSN13_HUMAN	Homo sapiens tetraspanin 13 (TSPAN13), mRNA.	75						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		AGGTGTTGCTATTTTTTGTAT	0.363													-	16815998	T	-	16815998	7	5	27	1	0	1	0	1	0	0	0	0	16634	1493	52	0	232	0	TSPAN13	7	16815998	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	310798	16815998	142322665	3550	27501											
MACC1	346389	broad.mit.edu	37	chr7	20180770	20180770	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tacagaaaatcataggcaggTttccacatcatctataaaga	6	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:20180770T>A	uc003sus.3	-	7	2667	c.2358A>T	c.(2356-2358)AAA>AAT	p.K786N	MACC1_uc010kug.2_Missense_Mutation_p.K786N	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	786					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3						CATAGGCAGGTTTCCACATCA	0.348													A	20180770	T	A	20180770	3	1	27	1	0	0	0	0	1	0	0	0	9143	1722	60	5	204	5	MACC1	7	20180770	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3364772	20180770	138957893	3551	27502											
MACC1	346389	broad.mit.edu	37	chr7	20199707	20199707	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcttcctttaagatggaaaTattatttctcttcctgttat	4	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:20199707T>A	uc003sus.3	-	5	586	c.277A>T	c.(277-279)ATT>TTT	p.I93F	MACC1_uc010kug.2_Missense_Mutation_p.I93F	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	93					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3						AAGATGGAAATATTATTTCTC	0.343													A	20199707	T	A	20199707	3	1	27	1	0	0	0	0	1	0	0	0	9143	1406	49	5	2293	5	MACC1	7	20199707	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	18937	20199707	138938956	3552	27503											
ITGB8	3696	broad.mit.edu	37	chr7	20441551	20441554	+	Frame_Shift_Del	DEL	AATA	AATA	-													agtgtttccagtgtgatgagAataaatgtcattttgatgaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:20441550_20441553GAATA>G	uc003suu.3	+	9	2193_2196	c.1488_1491GAATA>G	c.(1486-1491)gagaatfs	p.E496fs	ITGB8_uc011jyh.2_Frame_Shift_Del_p.E361fs	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	496	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AGTGTGATGAGAATAAATGTCATT	0.412													-	20441554	AATA	-	20441551	7	5	27	1	0	1	0	1	0	0	0	0	7901	246	9	0	1527	0	ITGB8	7	20441551	Frame_Shift_Del	DEL	AATA	TCGA-BR-6452-01A-12D-1800-08	241844	20441551	138697112	3553	27504											
ITGB8	3696	broad.mit.edu	37	chr7	20444381	20444382	+	Frame_Shift_Ins	INS	-	-	GT													tgtgcagtggaagaggcacgINStgtgtgtgtggaaggtgtga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:20444380_20444381C>CGT	uc003suu.3	+	10	2522_2523	c.1817_1818C>CGT	c.(1816-1818)acgfs	p.T606fs	ITGB8_uc011jyh.2_Frame_Shift_Ins_p.T471fs	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	606	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GGAAGAGGCACGTGTGTGTGTG	0.559													GT	20444382	-	GT	20444381	7	5	27	1	0	1	1	0	0	0	0	0	7901	1132	40	0	1860	0	ITGB8	7	20444381	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	2830	20444381	138694282	3554	27505											
ITGB8	3696	broad.mit.edu	37	chr7	20449319	20449319	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgggttgcttaaagtccTgatcattagacaggtgatac	11	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:20449319T>C	uc003suu.2	+	13	2810	c.2105T>C	c.(2104-2106)CTG>CCG	p.L702P	ITGB8_uc011jyh.1_Missense_Mutation_p.L567P	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	702	Helical; (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						CTTAAAGTCCTGATCATTAGA	0.333													C	20449319	T	C	20449319	3	2	27	1	0	0	0	0	1	0	0	0	7901	1580	55	3	2155	3	ITGB8	7	20449319	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4938	20449319	138689344	3555	27506											
ABCB5	340273	broad.mit.edu	37	chr7	20666232	20666232	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagcagttggatctattgagAtagtaagtgaaatcagttag	11	3	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:20666232A>T	uc010kuh.2	+	3	343	c.106A>T	c.(106-108)ATA>TTA	p.I36L		NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	689	Cytoplasmic (Potential).|ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						ATCTATTGAGATAGTAAGTGA	0.328													T	20666232	A	T	20666232	3	4	27	1	0	0	0	0	1	0	0	0	44	333	12	5	112	5	ABCB5	7	20666232	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	216913	20666232	138472431	3556	27507											
ABCB5	340273	broad.mit.edu	37	chr7	20778637	20778637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattgcatatggagctatgGccatcggagaaacgctcgtt	11	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:20778637G>A	uc003suw.3	+	15	2110	c.1564G>A	c.(1564-1566)GCC>ACC	p.A522T	ABCB5_uc010kuh.2_Missense_Mutation_p.A967T	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	522	Helical; (Potential).|ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						TGGAGCTATGGCCATCGGAGA	0.403													A	20778637	G	A	20778637	3	1	27	1	0	0	0	0	1	0	0	0	44	1203	42	2	3030	2	ABCB5	7	20778637	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	112405	20778637	138360026	3557	27508											
DNAH11	8701	broad.mit.edu	37	chr7	21603998	21603998	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttattgcaagagttttgtAatctcttcattaaccaggta	6	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:21603998A>T	uc003svc.2	+	6	1208	c.1177A>T	c.(1177-1179)AAT>TAT	p.N393Y		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	393	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AGAGTTTTGTAATCTCTTCAT	0.353									Kartagener_syndrome				T	21603998	A	T	21603998	3	4	27	1	0	0	0	0	1	0	0	0	4599	362	13	5	1199	5	DNAH11	7	21603998	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	825361	21603998	137534665	3558	27509											
DNAH11	8701	broad.mit.edu	37	chr7	21609853	21609853	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagctgagaccatgggAtttccagtctcatctggtgt	11	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:21609853A>T	uc003svc.2	+	7	1392	c.1361A>T	c.(1360-1362)GAT>GTT	p.D454V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	454	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AGACCATGGGATTTCCAGTCT	0.323									Kartagener_syndrome				T	21609853	A	T	21609853	3	4	27	1	0	0	0	0	1	0	0	0	4599	333	12	5	1387	5	DNAH11	7	21609853	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	5855	21609853	137528810	3559	27510											
DNAH11	8701	broad.mit.edu	37	chr7	21906122	21906122	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaatttcgaggcatagAccgagatgtggaaggatctg	15	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:21906122A>T	uc003svc.2	+	72	11583	c.11552A>T	c.(11551-11553)GAC>GTC	p.D3851V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3851					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CGAGGCATAGACCGAGATGTG	0.413									Kartagener_syndrome				T	21906122	A	T	21906122	3	4	27	1	0	0	0	0	1	0	0	0	4599	275	10	5	11835	5	DNAH11	7	21906122	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	296269	21906122	137232541	3560	27511											
DNAH11	8701	broad.mit.edu	37	chr7	21923982	21923982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcacagatgactgggatcGcaaactgtgtcgggtgtatt	12	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:21923982G>A	uc003svc.2	+	77	12513	c.12482G>A	c.(12481-12483)CGC>CAC	p.R4161H		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4161					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GACTGGGATCGCAAACTGTGT	0.383									Kartagener_syndrome				A	21923982	G	A	21923982	3	1	27	1	0	0	0	0	1	0	0	0	4599	1087	38	1	12785	1	DNAH11	7	21923982	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	17860	21923982	137214681	3561	27512											
KLHL7	55975	broad.mit.edu	37	chr7	23164720	23164720	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggatgcagcaaaccaatAtcagattgaacctgtgaaga	10	8	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:23164720A>G	uc003svs.3	+	4	664	c.371A>G	c.(370-372)TAT>TGT	p.Y124C	KLHL7_uc003svr.3_Missense_Mutation_p.Y102C|KLHL7_uc011jys.1_Missense_Mutation_p.Y48C|KLHL7_uc011jyt.1_Intron|KLHL7_uc003svt.2_Missense_Mutation_p.Y76C|KLHL7_uc003svp.2_Missense_Mutation_p.Y102C|KLHL7_uc003svq.2_Missense_Mutation_p.Y124C|KLHL7_uc011jyu.1_Missense_Mutation_p.Y102C	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN	kelch-like 7 isoform 1	124						Golgi apparatus|nucleolus|plasma membrane					0						GCAAACCAATATCAGATTGAA	0.333													G	23164720	A	G	23164720	3	3	27	1	0	0	0	0	1	0	0	0	8394	449	16	3	385	3	KLHL7	7	23164720	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1240738	23164720	135973943	3562	27513											
KLHL7	55975	broad.mit.edu	37	chr7	23164754	23164755	+	Frame_Shift_Ins	INS	-	-	T													tgaagaaaatgtgtgttgatINStttttgaaagaacaagttga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:23164753_23164754A>AT	uc003svs.4	+	3	697_698	c.404_405A>AT	c.(403-405)gatfs	p.D135fs	KLHL7_uc003svr.4_Frame_Shift_Ins_p.D113fs|KLHL7_uc011jys.2_Frame_Shift_Ins_p.D59fs|KLHL7_uc011jyt.2_Intron|KLHL7_uc003svt.3_Frame_Shift_Ins_p.D87fs|KLHL7_uc003svp.3_Frame_Shift_Ins_p.D113fs|KLHL7_uc003svq.3_Frame_Shift_Ins_p.D135fs|KLHL7_uc011jyu.2_Frame_Shift_Ins_p.D113fs	NM_001031710	NP_061334	Q8IXQ5	KLHL7_HUMAN	Homo sapiens kelch-like 7 (Drosophila) (KLHL7), transcript variant 1, mRNA.	135						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGTGTGTTGATTTTTTGAAAG	0.307													T	23164755	-	T	23164754	7	5	27	1	0	1	1	0	0	0	0	0	8394	1490	52	0	419	0	KLHL7	7	23164754	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	34	23164754	135973909	3563	27514											
C7orf46	340277	broad.mit.edu	37	chr7	23724154	23724154	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatggagggaaactttttacTcctgaagaatatgaagaata	10	4	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:23724154T>A	uc003swo.3	+	2	191	c.102T>A	c.(100-102)ACT>ACA	p.T34T	C7orf46_uc003swq.3_Silent_p.T34T|C7orf46_uc003swr.3_Intron|C7orf46_uc003swp.3_RNA|C7orf46_uc010kup.2_RNA	NM_199136	NP_954587	A4D161	CG046_HUMAN	hypothetical protein LOC340277 isoform 1	34											0						AACTTTTTACTCCTGAAGAAT	0.274													A	23724154	T	A	23724154	2	1	27	1	0	0	0	0	0	0	0	1	2396	1538	54	5		5	C7orf46	7	23724154	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	559400	23724154	135414509	3564	27515											
STK31	56164	broad.mit.edu	37	chr7	23751728	23751728	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attgttctagtttttcaggaAttgttcaaatggatgaagat	9	3	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:23751728A>T	uc003sws.3	+	2	128	c.61A>T	c.(61-63)ATT>TTT	p.I21F	STK31_uc003swt.3_5'UTR|STK31_uc011jze.1_Missense_Mutation_p.I21F|STK31_uc010kuq.2_5'UTR	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	21							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						TTTTTCAGGAATTGTTCAAAT	0.274													T	23751728	A	T	23751728	3	4	27	1	0	0	0	0	1	0	0	0	15295	101	4	5	67	5	STK31	7	23751728	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	27574	23751728	135386935	3565	27516											
STK31	56164	broad.mit.edu	37	chr7	23809300	23809300	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatcactgatttcagaagaCgcaatggataatattgatga	10	5	2	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:23809300C>T	uc003sws.3	+	13	1705	c.1638C>T	c.(1636-1638)GAC>GAT	p.D546D	STK31_uc003swt.3_Silent_p.D523D|STK31_uc011jze.1_Silent_p.D546D|STK31_uc010kuq.2_Silent_p.D523D	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	546							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						TTTCAGAAGACGCAATGGATA	0.353													T	23809300	C	T	23809300	2	4	27	1	0	0	0	0	0	0	0	1	15295	535	19	1		1	STK31	7	23809300	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	57572	23809300	135329363	3566	27517											
SKAP2	8935	broad.mit.edu	37	chr7	26724393	26724393	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatcaccacgcttaaatgAcaactcatcagaaaaagctc	4	13	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:26724393A>C	uc003syc.2	-	11	1242	c.949T>G	c.(949-951)TCA>GCA	p.S317A	SKAP2_uc011jzi.1_Missense_Mutation_p.S145A|SKAP2_uc011jzj.1_Missense_Mutation_p.S302A	NM_003930	NP_003921	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	317	SH3.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			pancreas(1)	1						CGCTTAAATGACAACTCATCA	0.378													C	26724393	A	C	26724393	3	2	27	1	0	0	0	0	1	0	0	0	14356	275	10	5	138	5	SKAP2	7	26724393	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2915093	26724393	132414270	3567	27518											
HOXA2	3199	broad.mit.edu	37	chr7	27141056	27141056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggcgccgcgatcccccGccgctgccatcggcgatttc	11	19	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:27141056G>A	uc003syh.2	-	2	695	c.420C>T	c.(418-420)GGC>GGT	p.G140G		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	140						nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						GCGATCCCCCGCCGCTGCCAT	0.552													A	27141056	G	A	27141056	2	1	27	1	0	0	0	0	0	0	0	1	7292	1074	38	1		1	HOXA2	7	27141056	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	416663	27141056	131997607	3568	27519											
HOXA3	3200	broad.mit.edu	37	chr7	27147767	27147767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccacatagctgccccccaCgaagacggggcttccctgta	9	17	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:27147767C>T	uc011jzl.1	-	3	1299	c.1099G>A	c.(1099-1101)GTG>ATG	p.V367M	HOXA3_uc011jzk.1_Missense_Mutation_p.V209M|HOXA3_uc003syk.2_Missense_Mutation_p.V367M	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	367					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2						CTGCCCCCCACGAAGACGGGG	0.677													T	27147767	C	T	27147767	3	4	27	1	0	0	0	0	1	0	0	0	7293	536	19	1	236	1	HOXA3	7	27147767	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6711	27147767	131990896	3569	27520											
HOXA3	3200	broad.mit.edu	37	chr7	27149900	27149900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaggcagaagagggaggCgggggcgcggcaggggtagg	27	5	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:27149900C>T	uc011jzl.1	-	2	560	c.360G>A	c.(358-360)CCG>CCA	p.P120P	HOXA3_uc011jzk.1_Splice_Site|HOXA3_uc003syk.2_Silent_p.P120P	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	120	Pro-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2						AAGAGggaggcgggggcgcgg	0.299													T	27149900	C	T	27149900	2	4	27	1	0	0	0	0	0	0	0	1	7293	755	27	1		1	HOXA3	7	27149900	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2133	27149900	131988763	3570	27521											
HOXA3	3200	broad.mit.edu	37	chr7	27150214	27150214	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttggctgcctggtaggggtAgccaccgtagatcgccgagc	16	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:27150214A>G	uc011jzl.1	-	2	246	c.46T>C	c.(46-48)TAC>CAC	p.Y16H	HOXA3_uc011jzk.1_Intron|HOXA3_uc003syk.2_Missense_Mutation_p.Y16H	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	16					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2						TGGTAGGGGTAGCCACCGTAG	0.607													G	27150214	A	G	27150214	3	3	27	1	0	0	0	0	1	0	0	0	7293	420	15	3	1293	3	HOXA3	7	27150214	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	314	27150214	131988449	3571	27522											
HOXA11	3207	broad.mit.edu	37	chr7	27224617	27224619	+	In_Frame_Del	DEL	GGA	GGA	-													ggttggacctggggcaggttGgaggagtaggagtatgtcat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:27224616_27224618TGGA>T	uc003syx.3	-	0	218_220	c.146_148TCCA>A	c.(145-150)tccaac>tAac	p.49_50SN>*	HOXA11_uc003syy.3_Intron|HOXA11-AS_uc003syz.1_5'Flank	NM_005523	NP_005514	P31270	HXA11_HUMAN	Homo sapiens homeobox A11 (HOXA11), mRNA.	49					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						TGGGGCAGGTTGGAGGAGTAGGA	0.586			T	NUP98	CML						OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	-	27224619	GGA	-	27224617	7	5	27	1	0	1	0	1	0	0	0	0	7290	1335	47	0	802	0	HOXA11	7	27224617	In_Frame_Del	DEL	GGA	TCGA-BR-6452-01A-12D-1800-08	74403	27224617	131914046	3572	27523											
CPVL	54504	broad.mit.edu	37	chr7	29111986	29111986	+	Silent	SNP	G	G	A													atcttcacctctctcacaggGttgagggaatggatgaggtg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:29111986G>A	uc003szv.2	-	8	782	c.663C>T	c.(661-663)AAC>AAT	p.N221N	CPVL_uc003szw.2_Silent_p.N221N|CPVL_uc003szx.2_Silent_p.N221N	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	221					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2						CTCTCACAGGGTTGAGGGAAT	0.438													A	29111986	G	A	29111986	2	1	27	1	0	0	0	0	0	0	0	1	3835	1252	44	4		4	CPVL	7	29111986	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1887369	29111986	130026677	3573	27524	92	2									
CPVL	54504	broad.mit.edu	37	chr7	29111991	29111991	+	Missense_Mutation	SNP	G	G	T													cacctctctcacagggttgaGggaatggatgaggtgtgcaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:29111991G>T	uc003szv.2	-	8	777	c.658C>A	c.(658-660)CTC>ATC	p.L220I	CPVL_uc003szw.2_Missense_Mutation_p.L220I|CPVL_uc003szx.2_Missense_Mutation_p.L220I	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	220					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2						ACAGGGTTGAGGGAATGGATG	0.433													T	29111991	G	T	29111991	3	4	27	1	0	0	0	0	1	0	0	0	3835	1000	35	5	796	5	CPVL	7	29111991	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5	29111991	130026672	3574	27525	92	2									
CPVL	54504	broad.mit.edu	37	chr7	29160521	29160521	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacttacctttttggatctTcccagcttcaatgtaagggg	8	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:29160521T>C	uc003szv.2	-	2	276	c.157A>G	c.(157-159)AAG>GAG	p.K53E	CPVL_uc003szw.2_Missense_Mutation_p.K53E|CPVL_uc003szx.2_Missense_Mutation_p.K53E	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	53					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2						TTTTGGATCTTCCCAGCTTCA	0.348													C	29160521	T	C	29160521	3	2	27	1	0	0	0	0	1	0	0	0	3835	1792	62	3	1321	3	CPVL	7	29160521	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	48530	29160521	129978142	3575	27526											
CHN2	1124	broad.mit.edu	37	chr7	29552310	29552310	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatgcggtaccaaaagctgAttgtgcagattttaatagaa	9	5	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:29552310A>G	uc003szz.2	+	13	1803	c.1366A>G	c.(1366-1368)ATT>GTT	p.I456V	CHN2_uc011jzs.1_Missense_Mutation_p.I531V|CHN2_uc010kva.2_3'UTR|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_Missense_Mutation_p.I421V|CHN2_uc011jzt.1_Missense_Mutation_p.I469V|CHN2_uc010kvd.2_Missense_Mutation_p.I312V|CHN2_uc011jzu.1_Missense_Mutation_p.I441V|CHN2_uc010kvg.2_Missense_Mutation_p.I274V|CHN2_uc010kvh.2_Missense_Mutation_p.I216V|CHN2_uc010kvi.2_Missense_Mutation_p.I248V|CHN2_uc010kve.2_3'UTR|CHN2_uc003taa.2_Missense_Mutation_p.I320V|CHN2_uc010kvf.2_Missense_Mutation_p.I262V|CHN2_uc010kvj.2_Missense_Mutation_p.I229V|CHN2_uc010kvk.2_Missense_Mutation_p.I131V|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.I275V|CHN2_uc011jzv.1_Missense_Mutation_p.I249V	NM_004067	NP_004058	P52757	CHIO_HUMAN	beta chimerin isoform 2	456	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)	2						CCAAAAGCTGATTGTGCAGAT	0.483													G	29552310	A	G	29552310	3	3	27	1	0	0	0	0	1	0	0	0	3363	333	12	3	1584	3	CHN2	7	29552310	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	391789	29552310	129586353	3576	27527											
PLEKHA8	84725	broad.mit.edu	37	chr7	30094922	30094922	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtggcattcccacagaagcaTtcttggcatcatgttatgct	9	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:30094922T>A	uc003tam.1	+	9	1094	c.1003T>A	c.(1003-1005)TTC>ATC	p.F335I	PLEKHA8_uc003tao.2_Missense_Mutation_p.F219I|PLEKHA8_uc003tap.1_Missense_Mutation_p.F335I|PLEKHA8_uc003tan.2_Missense_Mutation_p.F335I	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A	335					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(3)|ovary(1)	4						CACAGAAGCATTCTTGGCATC	0.388													A	30094922	T	A	30094922	3	1	27	1	0	0	0	0	1	0	0	0	12062	1493	52	5	1037	5	PLEKHA8	7	30094922	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	542612	30094922	129043741	3577	27528											
NOD1	10392	broad.mit.edu	37	chr7	30490868	30490868	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaagcagggctgcagcTcccgcacgccgtagtcgttg	15	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:30490868T>C	uc003tav.2	-	6	2688	c.2165A>G	c.(2164-2166)GAG>GGG	p.E722G		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	722	LRR 2.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2						GGGCTGCAGCTCCCGCACGCC	0.662													C	30490868	T	C	30490868	3	2	27	1	0	0	0	0	1	0	0	0	10516	1551	54	3	732	3	NOD1	7	30490868	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	395946	30490868	128647795	3578	27529											
NOD1	10392	broad.mit.edu	37	chr7	30491688	30491688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtggagggtctccactgGgctgcgtgtgttccgctgca	17	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:30491688G>A	uc003tav.2	-	6	1868	c.1345C>T	c.(1345-1347)CCA>TCA	p.P449S		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	449	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2						GTCTCCACTGGGCTGCGTGTG	0.637													A	30491688	G	A	30491688	3	1	27	1	0	0	0	0	1	0	0	0	10516	1232	43	4	1552	4	NOD1	7	30491688	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	820	30491688	128646975	3579	27530											
GARS	2617	broad.mit.edu	37	chr7	30661016	30661016	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatatctttttagggttggaTtgagattgttggatgtgctg	13	2	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:30661016T>A	uc003tbm.2	+	11	1724	c.1367T>A	c.(1366-1368)ATT>AAT	p.I456N		NM_002047	NP_002038	P41250	SYG_HUMAN	glycyl-tRNA synthetase	456					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			ovary(1)	1					Glycine(DB00145)	TAGGGTTGGATTGAGATTGTT	0.368													A	30661016	T	A	30661016	3	1	27	1	0	0	0	0	1	0	0	0	6242	1493	52	5	1409	5	GARS	7	30661016	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	169328	30661016	128477647	3580	27531											
CRHR2	1395	broad.mit.edu	37	chr7	30693176	30693176	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggactcgaagggagtgatggTcctgccagcggtgccacctc	15	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:30693176T>C	uc003tbn.2	-	12	1380	c.1136A>G	c.(1135-1137)GAC>GGC	p.D379G	CRHR2_uc010kvw.1_3'UTR|CRHR2_uc010kvx.1_Missense_Mutation_p.D378G|CRHR2_uc010kvy.1_Missense_Mutation_p.D215G|CRHR2_uc003tbo.2_Missense_Mutation_p.D365G|CRHR2_uc003tbp.2_Missense_Mutation_p.D406G	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	379	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(2)|ovary(1)|skin(1)	4						GGAGTGATGGTCCTGCCAGCG	0.642													C	30693176	T	C	30693176	3	2	27	1	0	0	0	0	1	0	0	0	3872	1667	58	3	103	3	CRHR2	7	30693176	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	32160	30693176	128445487	3581	27532											
GHRHR	2692	broad.mit.edu	37	chr7	31014631	31014631	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctactggtggatcatcaaAgggcccattgtcctctcggt	10	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:31014631A>G	uc003tbx.2	+	9	906	c.858A>G	c.(856-858)AAA>AAG	p.K286K	GHRHR_uc003tbw.1_Silent_p.K286K|GHRHR_uc003tby.2_Silent_p.K222K|GHRHR_uc003tbz.2_Missense_Mutation_p.R53G	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	286	Helical; Name=5; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			ovary(2)|lung(1)|breast(1)|large_intestine(1)	5					Sermorelin(DB00010)	GGATCATCAAAGGGCCCATTG	0.567											OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	31014631	A	G	31014631	2	3	27	1	0	0	0	0	0	0	0	1	6373	69	3	3		3	GHRHR	7	31014631	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	321455	31014631	128124032	3582	27533											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31102904	31102904	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtgtcgtgcacgtttcCctggctgctctcctcctgct	11	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:31102904C>T	uc003tca.1	+	2	247	c.24C>T	c.(22-24)TCC>TCT	p.S8S	ADCYAP1R1_uc003tcb.1_Silent_p.S8S|ADCYAP1R1_uc003tcc.1_Silent_p.S8S|ADCYAP1R1_uc003tcd.1_Silent_p.S8S|ADCYAP1R1_uc003tce.1_Silent_p.S8S	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	8					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1						TGCACGTTTCCCTGGCTGCTC	0.602													T	31102904	C	T	31102904	2	4	27	1	0	0	0	0	0	0	0	1	303	610	22	4		4	ADCYAP1R1	7	31102904	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	88273	31102904	128035759	3583	27534											
CCDC129	223075	broad.mit.edu	37	chr7	31683452	31683452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggagaggcaaagccctgGccctgaaccctcagtctgta	13	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:31683452G>A	uc003tcj.1	+	11	3461	c.2468G>A	c.(2467-2469)GGC>GAC	p.G823D	CCDC129_uc011kad.1_Missense_Mutation_p.G833D|CCDC129_uc003tci.1_Missense_Mutation_p.G674D|CCDC129_uc011kae.1_Missense_Mutation_p.G849D|CCDC129_uc003tck.1_Missense_Mutation_p.G731D	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	823	Cys-rich.										0						CAAAGCCCTGGCCCTGAACCC	0.562													A	31683452	G	A	31683452	3	1	27	1	0	0	0	0	1	0	0	0	2764	1203	42	2	2506	2	CCDC129	7	31683452	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	580548	31683452	127455211	3584	27535											
KBTBD2	25948	broad.mit.edu	37	chr7	32909594	32909594	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcacaaggtaaagggcttAccatcgtccactcatctttc	7	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:32909594A>G	uc003tdb.2	-	4	1894	c.1235T>C	c.(1234-1236)GTA>GCA	p.V412A	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	412	Kelch 2.										0			GBM - Glioblastoma multiforme(11;0.0499)			TAAAGGGCTTACCATCGTCCA	0.448													G	32909594	A	G	32909594	3	3	27	1	0	0	0	0	1	0	0	0	7993	391	14	3	640	3	KBTBD2	7	32909594	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1226142	32909594	126229069	3585	27536											
FKBP9	11328	broad.mit.edu	37	chr7	33020083	33020084	+	Frame_Shift_Del	DEL	TG	TG	-													acaaggtagtacctgaaaacTgtgagcggataagtcaaagt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:33020082_33020083CTG>C	uc011kal.2	+	5	1150_1151	c.969_970CTG>C	c.(967-972)aactgtfs	p.N323fs	AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Non-coding_Transcript|FKBP9_uc003tdh.3_Frame_Shift_Del_p.N270fs|FKBP9_uc011kam.2_Frame_Shift_Del_p.N38fs	NM_007270	NP_009201	O95302	FKBP9_HUMAN	Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA.	270	PPIase FKBP-type 3.				protein folding	endoplasmic reticulum|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TACCTGAAAACTGTGAGCGGAT	0.45													-	33020084	TG	-	33020083	7	5	27	1	0	1	0	1	0	0	0	0	5915	1580	55	0	829	0	FKBP9	7	33020083	Frame_Shift_Del	DEL	TG	TCGA-BR-6452-01A-12D-1800-08	110489	33020083	126118580	3586	27537											
BBS9	27241	broad.mit.edu	37	chr7	33303972	33303972	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacagcaaaaacttggttctGgaaaaagactagttgtaagg	10	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:33303972G>T	uc003tdn.1	+	7	1201	c.688G>T	c.(688-690)GGA>TGA	p.G230*	BBS9_uc003tdo.1_Nonsense_Mutation_p.G230*|BBS9_uc003tdp.1_Nonsense_Mutation_p.G230*|BBS9_uc003tdq.1_Nonsense_Mutation_p.G230*|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Nonsense_Mutation_p.G230*|BBS9_uc011kao.1_Nonsense_Mutation_p.G108*	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	230					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			ACTTGGTTCTGGAAAAAGACT	0.289									Bardet-Biedl_syndrome				T	33303972	G	T	33303972	4	4	27	1	0	0	0	0	0	1	0	0	1342	1349	47	5	710	5	BBS9	7	33303972	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	283889	33303972	125834691	3587	27538											
BBS9	27241	broad.mit.edu	37	chr7	33573721	33573721	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcaccttgctctgcgatagAttatccaaaggtggccgtct	9	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:33573721A>T	uc003tdn.1	+	21	2967	c.2454A>T	c.(2452-2454)AGA>AGT	p.R818S	BBS9_uc003tdo.1_Missense_Mutation_p.R783S|BBS9_uc003tdp.1_Missense_Mutation_p.R813S|BBS9_uc003tdq.1_Missense_Mutation_p.R778S|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.R342S|BBS9_uc003tds.1_Missense_Mutation_p.R241S|BBS9_uc003tdt.2_RNA	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	818					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			TCTGCGATAGATTATCCAAAG	0.498									Bardet-Biedl_syndrome				T	33573721	A	T	33573721	3	4	27	1	0	0	0	0	1	0	0	0	1342	330	12	5	2532	5	BBS9	7	33573721	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	269749	33573721	125564942	3588	27539											
EEPD1	80820	broad.mit.edu	37	chr7	36194118	36194118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgacgcgtgccgtggcacGcagcatcgtggagtaccgag	17	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:36194118G>A	uc003tfa.2	+	2	825	c.185G>A	c.(184-186)CGC>CAC	p.R62H		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	62	HhH.				DNA repair		DNA binding				0						GCCGTGGCACGCAGCATCGTG	0.577													A	36194118	G	A	36194118	3	1	27	1	0	0	0	0	1	0	0	0	4932	1087	38	1	187	1	EEPD1	7	36194118	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2620397	36194118	122944545	3589	27540											
ELMO1	9844	broad.mit.edu	37	chr7	36934620	36934620	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctccttcaccacctgcatTacctgaagatgaaaggaaga	8	11	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:36934620T>C	uc003tfk.1	-	17	1747	c.1440A>G	c.(1438-1440)GTA>GTG	p.V480V	ELMO1_uc003tfi.1_5'UTR|ELMO1_uc003tfj.1_5'UTR|ELMO1_uc011kbb.1_RNA|ELMO1_uc011kbc.1_Silent_p.V384V|ELMO1_uc010kxg.1_Silent_p.V480V	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	480	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						CCACCTGCATTACCTGAAGAT	0.507													C	36934620	T	C	36934620	2	2	27	1	0	0	0	0	0	0	0	1	5065	1741	61	3		3	ELMO1	7	36934620	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	740502	36934620	122204043	3590	27541											
ELMO1	9844	broad.mit.edu	37	chr7	37172811	37172811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcccaggtggagtctgcGtgaagtccatggcagggttg	15	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:37172811G>A	uc003tfk.1	-	14	1422	c.1115C>T	c.(1114-1116)ACG>ATG	p.T372M	ELMO1_uc011kbc.1_Missense_Mutation_p.T276M|ELMO1_uc010kxg.1_Missense_Mutation_p.T372M	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	372	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						TGGAGTCTGCGTGAAGTCCAT	0.463													A	37172811	G	A	37172811	3	1	27	1	0	0	0	0	1	0	0	0	5065	1145	40	1	1104	1	ELMO1	7	37172811	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	238191	37172811	121965852	3591	27542											
ELMO1	9844	broad.mit.edu	37	chr7	37311473	37311473	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggatagtgccatttttTatctcattgcggttctggaa	10	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:37311473T>C	uc003tfk.1	-	5	514	c.207A>G	c.(205-207)ATA>ATG	p.I69M	ELMO1_uc011kbc.1_Translation_Start_Site|ELMO1_uc010kxg.1_Missense_Mutation_p.I69M	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	69					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						TGCCATTTTTTATCTCATTGC	0.353													C	37311473	T	C	37311473	3	2	27	1	0	0	0	0	1	0	0	0	5065	1744	61	3	2048	3	ELMO1	7	37311473	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	138662	37311473	121827190	3592	27543											
GPR141	353345	broad.mit.edu	37	chr7	37780268	37780268	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgcccttctgcaaatttgtGagtgccatgctgcacatcca	8	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:37780268G>A	uc003tfm.1	+	1	273	c.273G>A	c.(271-273)GTG>GTA	p.V91V	uc003tfl.2_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	91	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						GCAAATTTGTGAGTGCCATGC	0.483													A	37780268	G	A	37780268	2	1	27	1	0	0	0	0	0	0	0	1	6649	1277	45	4		4	GPR141	7	37780268	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	468795	37780268	121358395	3593	27544											
TXNDC3	51314	broad.mit.edu	37	chr7	37907455	37907455	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctgaggatcaacctgaggTcgaagcccaggttacacctg	11	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:37907455T>C	uc003tfn.2	+	11	1145	c.773T>C	c.(772-774)GTC>GCC	p.V258A		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	258					cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						CAACCTGAGGTCGAAGCCCAG	0.443									Kartagener_syndrome				C	37907455	T	C	37907455	3	2	27	1	0	0	0	0	1	0	0	0	16795	1667	58	3	807	3	TXNDC3	7	37907455	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	127187	37907455	121231208	3594	27545											
EPDR1	54749	broad.mit.edu	37	chr7	37960798	37960798	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggacgagaggaaggcgctgaTcccctgcaagaggtacaggt	16	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:37960798T>A	uc003tfp.2	+	1	636	c.617T>A	c.(616-618)ATC>AAC	p.I206N	EPDR1_uc003tfq.2_Missense_Mutation_p.I206N|EPDR1_uc010kxh.2_5'Flank	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	86					cell-matrix adhesion	extracellular region	calcium ion binding			upper_aerodigestive_tract(1)	1						AAGGCGCTGATCCCCTGCAAG	0.682													A	37960798	T	A	37960798	3	1	27	1	0	0	0	0	1	0	0	0	5163	1435	50	5	619	5	EPDR1	7	37960798	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	53343	37960798	121177865	3595	27546											
STARD3NL	83930	broad.mit.edu	37	chr7	38247245	38247245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggaagggaaaagaaagGcatatctgatgtcaggagga	15	3	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:38247245G>A	uc003tfr.2	+	2	288	c.140G>A	c.(139-141)GGC>GAC	p.G47D	STARD3NL_uc003tfs.2_Missense_Mutation_p.G47D|STARD3NL_uc003tft.2_Missense_Mutation_p.G47D	NM_032016	NP_114405	O95772	MENTO_HUMAN	MLN64 N-terminal homolog	47	Cytoplasmic (Potential).					integral to membrane|late endosome membrane				ovary(1)	1						GAAAAGAAAGGCATATCTGAT	0.443													A	38247245	G	A	38247245	3	1	27	1	0	0	0	0	1	0	0	0	15257	1203	42	2	142	2	STARD3NL	7	38247245	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	286447	38247245	120891418	3596	27547											
AMPH	273	broad.mit.edu	37	chr7	38502674	38502674	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggtgaaggctcctcaggCggtgatggtgtctttgcaat	16	7	2	2	rs148695925		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:38502674C>T	uc003tgu.2	-	10	858	c.789G>A	c.(787-789)CCG>CCA	p.P263P	AMPH_uc003tgv.2_Silent_p.P263P|AMPH_uc003tgt.2_Silent_p.P16P	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	263					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						GCTCCTCAGGCGGTGATGGTG	0.567													T	38502674	C	T	38502674	2	4	27	1	0	0	0	0	0	0	0	1	588	755	27	1		1	AMPH	7	38502674	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	255429	38502674	120635989	3597	27548											
CDK13	8621	broad.mit.edu	37	chr7	40134332	40134332	+	Missense_Mutation	SNP	A	A	T													ccatagatttgaatatagccAtggtcctattgcagtcctgg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:40134332A>T	uc003thh.3	+	14	4574	c.4292A>T	c.(4291-4293)CAT>CTT	p.H1431L	CDK13_uc003thi.3_Missense_Mutation_p.H1371L|CDK13_uc003thj.2_Missense_Mutation_p.H482L|CDK13_uc003thk.2_Missense_Mutation_p.H364L	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1431					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						GAATATAGCCATGGTCCTATT	0.468													T	40134332	A	T	40134332	3	4	27	1	0	0	0	0	1	0	0	0	3129	217	8	5	4346	5	CDK13	7	40134332	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1631658	40134332	119004331	3598	27549	93	2									
CDK13	8621	broad.mit.edu	37	chr7	40134336	40134336	+	Silent	SNP	T	T	C													agatttgaatatagccatggTcctattgcagtcctggcaaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:40134336T>C	uc003thh.3	+	14	4578	c.4296T>C	c.(4294-4296)GGT>GGC	p.G1432G	CDK13_uc003thi.3_Silent_p.G1372G|CDK13_uc003thj.2_Silent_p.G483G|CDK13_uc003thk.2_Silent_p.G365G	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1432					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						ATAGCCATGGTCCTATTGCAG	0.463													C	40134336	T	C	40134336	2	2	27	1	0	0	0	0	0	0	0	1	3129	1654	58	3		3	CDK13	7	40134336	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4	40134336	119004327	3599	27550	93	2									
CDK13	8621	broad.mit.edu	37	chr7	40134465	40134465	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatccgagtggccccagcctCatgcatggacagacctggac	11	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:40134465C>T	uc003thh.3	+	14	4707	c.4425C>T	c.(4423-4425)CTC>CTT	p.L1475L	CDK13_uc003thi.3_Silent_p.L1415L|CDK13_uc003thj.2_Silent_p.L526L|CDK13_uc003thk.2_Silent_p.L408L	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1475					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						GCCCCAGCCTCATGCATGGAC	0.517													T	40134465	C	T	40134465	2	4	27	1	0	0	0	0	0	0	0	1	3129	813	29	4		4	CDK13	7	40134465	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	129	40134465	119004198	3600	27551											
C7orf10	79783	broad.mit.edu	37	chr7	40314127	40314127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcagaatggagatccagttCgcccaggagtagctatgact	11	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:40314127C>T	uc003thn.1	+	8	637	c.592C>T	c.(592-594)CGC>TGC	p.R198C	C7orf10_uc003thm.1_Missense_Mutation_p.R168C|C7orf10_uc003tho.1_Intron	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN	dermal papilla derived protein 13	205							transferase activity			ovary(2)	2						AGATCCAGTTCGCCCAGGAGT	0.363													T	40314127	C	T	40314127	3	4	27	1	0	0	0	0	1	0	0	0	2376	884	31	1	532	1	C7orf10	7	40314127	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	179662	40314127	118824536	3601	27552											
STK17A	9263	broad.mit.edu	37	chr7	43647896	43647896	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaccagtgtgttgcagacaGagaagaagcctttaaagaaa	11	6	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:43647896G>A	uc003tih.2	+	3	612	c.461G>A	c.(460-462)AGA>AAA	p.R154K		NM_004760	NP_004751	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	154	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			skin(2)	2						GTTGCAGACAGAGAAGAAGCC	0.373													A	43647896	G	A	43647896	3	1	27	1	0	0	0	0	1	0	0	0	15289	942	33	4	471	4	STK17A	7	43647896	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3333769	43647896	115490767	3602	27553											
BLVRA	644	broad.mit.edu	37	chr7	43830895	43830895	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagatttctttggaggAtgctctttccagccaagagg	11	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:43830895A>G	uc003tir.2	+	4	265	c.182A>G	c.(181-183)GAT>GGT	p.D61G	BLVRA_uc010kxv.2_Missense_Mutation_p.D61G	NM_000712	NP_000703	P53004	BIEA_HUMAN	biliverdin reductase A precursor	61					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			ovary(1)	1					NADH(DB00157)	TCTTTGGAGGATGCTCTTTCC	0.458													G	43830895	A	G	43830895	3	3	27	1	0	0	0	0	1	0	0	0	1451	333	12	3	192	3	BLVRA	7	43830895	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	182999	43830895	115307768	3603	27554											
BLVRA	644	broad.mit.edu	37	chr7	43846580	43846580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttttgtctttgcagtccaCtgtcatggattgaagaaaaa	8	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:43846580C>T	uc003tir.2	+	8	720	c.637C>T	c.(637-639)CTG>TTG	p.L213L	BLVRA_uc010kxv.2_Silent_p.L213L	NM_000712	NP_000703	P53004	BIEA_HUMAN	biliverdin reductase A precursor	213					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			ovary(1)	1					NADH(DB00157)	TTGCAGTCCACTGTCATGGAT	0.433													T	43846580	C	T	43846580	2	4	27	1	0	0	0	0	0	0	0	1	1451	564	20	4		4	BLVRA	7	43846580	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	15685	43846580	115292083	3604	27555											
URGCP	55665	broad.mit.edu	37	chr7	43917311	43917311	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagaagcgtctccggaggcTgtctcagtcgcggctgggcc	16	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:43917311T>C	uc003tiw.2	-	6	1808	c.1751A>G	c.(1750-1752)CAG>CGG	p.Q584R	URGCP_uc003tiu.2_Missense_Mutation_p.Q541R|URGCP_uc003tiv.2_Missense_Mutation_p.Q509R|URGCP_uc003tix.2_Missense_Mutation_p.Q575R|URGCP_uc003tiy.2_Missense_Mutation_p.Q541R|URGCP_uc003tiz.2_Missense_Mutation_p.Q541R|URGCP_uc011kbj.1_Missense_Mutation_p.Q541R	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	584					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						CTCCGGAGGCTGTCTCAGTCG	0.637													C	43917311	T	C	43917311	3	2	27	1	0	0	0	0	1	0	0	0	17023	1580	55	3	1048	3	URGCP	7	43917311	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	70731	43917311	115221352	3605	27556											
POLM	27434	broad.mit.edu	37	chr7	44116212	44116212	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtcttcacaccgaccccgAagatctgggtgaagagctgt	11	12	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:44116212A>G	uc003tjt.2	-	6	823	c.731T>C	c.(730-732)TTC>TCC	p.F244S	POLM_uc003tjw.1_5'UTR|POLM_uc003tju.2_Missense_Mutation_p.F244S|POLM_uc003tjx.2_Intron|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Intron|POLM_uc003tka.1_RNA|POLM_uc003tjz.3_Missense_Mutation_p.S239P	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	DNA-directed DNA polymerase mu	244					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3						ACCGACCCCGAAGATCTGGGT	0.602								DNA_polymerases_(catalytic_subunits)					G	44116212	A	G	44116212	3	3	27	1	0	0	0	0	1	0	0	0	12206	246	9	3	777	3	POLM	7	44116212	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	198901	44116212	115022451	3606	27557											
POLM	27434	broad.mit.edu	37	chr7	44120414	44120415	+	Frame_Shift_Ins	INS	-	-	G													gcttatgtccagcagagctgINSggggggtgcaacccggggga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:44120413_44120414T>TG	uc003tjt.3	-	1	382_383	c.290_291A>CA	c.(289-291)ccafs	p.P97fs	POLM_uc003tju.3_Frame_Shift_Ins_p.P97fs|POLM_uc003tjv.3_Non-coding_Transcript|POLM_uc003tjx.2_Frame_Shift_Ins_p.P97fs|POLM_uc011kbt.1_5'UTR|POLM_uc003tjz.4_Frame_Shift_Ins_p.P97fs|POLM_uc003tka.1_5'Flank|POLM_uc011kbu.1_Frame_Shift_Ins_p.P97fs|POLM_uc010kxy.2_Frame_Shift_Ins_p.P97fs	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	Homo sapiens polymerase (DNA directed), mu (POLM), mRNA.	97	BRCT.				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCAGCAGAGCTGGGGGGGTGCA	0.634								DNA polymerases (catalytic subunits)					G	44120415	-	G	44120414	7	5	27	1	0	1	1	0	0	0	0	0	12206	1348	47	0	1234	0	POLM	7	44120414	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	4202	44120414	115018249	3607	27558											
MYL7	58498	broad.mit.edu	37	chr7	44178596	44178596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttccccgccaggtccatgGgtgtcagggcgaacatctgc	13	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:44178596G>A	uc003tkg.2	-	7	464	c.452C>T	c.(451-453)CCC>CTC	p.P151L		NM_021223	NP_067046	Q01449	MLRA_HUMAN	myosin light chain 2a	151	EF-hand 3.				actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity				0						CAGGTCCATGGGTGTCAGGGC	0.632													A	44178596	G	A	44178596	3	1	27	1	0	0	0	0	1	0	0	0	10053	1232	43	4	79	4	MYL7	7	44178596	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	58182	44178596	114960067	3608	27559											
YKT6	10652	broad.mit.edu	37	chr7	44246004	44246004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatctgtgccacgtctacGtccggaatgatagtcttgca	9	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:44246004G>A	uc003tkm.2	+	3	365	c.208G>A	c.(208-210)GTC>ATC	p.V70I	YKT6_uc011kbv.1_Missense_Mutation_p.V70I	NM_006555	NP_006546	O15498	YKT6_HUMAN	YKT6 v-SNARE protein	70	Longin.				ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting	cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex	protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity				0						CCACGTCTACGTCCGGAATGA	0.473													A	44246004	G	A	44246004	3	1	27	1	0	0	0	0	1	0	0	0	17482	1145	40	1	218	1	YKT6	7	44246004	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	67408	44246004	114892659	3609	27560											
CAMK2B	816	broad.mit.edu	37	chr7	44281896	44281896	+	Frame_Shift_Del	DEL	T	T	-													tcagcatctggttgatgaggTttttggcttcaggagtgacg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:44281895_44281895GT>G	uc003tkq.2	-	9	951	c.741_741AC>C	c.(739-741)aacfs	p.N247fs	CAMK2B_uc003tkp.2_Frame_Shift_Del_p.N247fs|CAMK2B_uc003tkr.2_Frame_Shift_Del_p.N247fs|CAMK2B_uc003tks.2_Frame_Shift_Del_p.N247fs|CAMK2B_uc003tku.2_Frame_Shift_Del_p.N247fs|CAMK2B_uc003tkv.2_Frame_Shift_Del_p.N247fs|CAMK2B_uc003tkt.2_Frame_Shift_Del_p.N247fs|CAMK2B_uc003tkw.2_Frame_Shift_Del_p.N247fs|CAMK2B_uc010kyc.2_Frame_Shift_Del_p.N247fs	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA.	247	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GGTTGATGAGGTTTTTGGCTT	0.627													-	44281896	T	-	44281896	7	5	27	1	0	1	0	1	0	0	0	0	2600	1725	60	0	1319	0	CAMK2B	7	44281896	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	35892	44281896	114856767	3610	27561											
ZMIZ2	83637	broad.mit.edu	37	chr7	44796612	44796612	+	Frame_Shift_Del	DEL	G	G	-													ccatgatgcctggtgtggcaGggggcagctccgccttgacc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:44796611_44796611AG>A	uc003tlr.3	+	3	354	c.231_231AG>A	c.(229-231)gcafs	p.A77fs	ZMIZ2_uc003tlq.3_Intron|ZMIZ2_uc003tls.3_Frame_Shift_Del_p.A77fs|ZMIZ2_uc003tlt.3_5'Flank|ZMIZ2_uc010kyj.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	77	Gly-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGGTGTGGCAGGGGGCAGCT	0.632													-	44796612	G	-	44796612	7	5	27	1	0	1	0	1	0	0	0	0	17694	1000	35	0	242	0	ZMIZ2	7	44796612	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	514716	44796612	114342051	3611	27562											
H2AFV	94239	broad.mit.edu	37	chr7	44882918	44882918	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagatactgccttagccttGgccttcccactgtcctttcc	7	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:44882918G>A	uc003tma.2	-	2	194	c.39C>T	c.(37-39)GCC>GCT	p.A13A	H2AFV_uc003tlz.2_Silent_p.A13A|H2AFV_uc003tmb.2_Silent_p.A13A|H2AFV_uc003tmc.2_Silent_p.A13A|H2AFV_uc003tmd.2_Intron	NM_012412	NP_036544	Q71UI9	H2AV_HUMAN	H2A histone family, member V isoform 1	13					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CCTTAGCCTTGGCCTTCCCAC	0.373													A	44882918	G	A	44882918	2	1	27	1	0	0	0	0	0	0	0	1	6927	1335	47	4		4	H2AFV	7	44882918	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	86306	44882918	114255745	3612	27563											
TBRG4	9238	broad.mit.edu	37	chr7	45142067	45142067	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctggctccaggcctggcagCtctgaccccagcttctcatg	11	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:45142067C>A	uc003tmv.2	-	7	1326	c.1200G>T	c.(1198-1200)GAG>GAT	p.E400D	TBRG4_uc003tmu.2_Missense_Mutation_p.E225D|TBRG4_uc003tmw.2_Missense_Mutation_p.E290D|TBRG4_uc003tmx.2_Missense_Mutation_p.E290D|TBRG4_uc011kcd.1_Missense_Mutation_p.E411D	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	cell cycle progression 2 protein isoform 1	400					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity				0						GGCCTGGCAGCTCTGACCCCA	0.617													A	45142067	C	A	45142067	3	1	27	1	0	0	0	0	1	0	0	0	15646	796	28	5	715	5	TBRG4	7	45142067	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	259149	45142067	113996596	3613	27564											
RAMP3	10268	broad.mit.edu	37	chr7	45216982	45216982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtgtgggaaggctttcGcagacatgatgggcaaggtg	16	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:45216982G>A	uc003tnb.2	+	2	194	c.133G>A	c.(133-135)GCA>ACA	p.A45T	RAMP3_uc003tnc.2_Missense_Mutation_p.A13T	NM_005856	NP_005847	O60896	RAMP3_HUMAN	receptor activity modifying protein 3 precursor	45	Extracellular (Potential).				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity				0					Pramlintide(DB01278)	GAAGGCTTTCGCAGACATGAT	0.592													A	45216982	G	A	45216982	3	1	27	1	0	0	0	0	1	0	0	0	13023	1087	38	1	139	1	RAMP3	7	45216982	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	74915	45216982	113921681	3614	27565											
ADCY1	107	broad.mit.edu	37	chr7	45717627	45717627	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcagacctgaacttctttAccctgaagtacaaacatgtc	7	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:45717627A>G	uc003tne.3	+	9	1783	c.1765A>G	c.(1765-1767)ACC>GCC	p.T589A		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	589	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GAACTTCTTTACCCTGAAGTA	0.567													G	45717627	A	G	45717627	3	3	27	1	0	0	0	0	1	0	0	0	292	391	14	3	1799	3	ADCY1	7	45717627	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	500645	45717627	113421036	3615	27566											
ADCY1	107	broad.mit.edu	37	chr7	45743052	45743052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaacctcctgccggcccaCgtcgcccagcacttcctcat	6	20	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:45743052C>T	uc003tne.3	+	15	2550	c.2532C>T	c.(2530-2532)CAC>CAT	p.H844H		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	844	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGCCGGCCCACGTCGCCCAGC	0.612													T	45743052	C	T	45743052	2	4	27	1	0	0	0	0	0	0	0	1	292	535	19	1		1	ADCY1	7	45743052	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	25425	45743052	113395611	3616	27567											
ADCY1	107	broad.mit.edu	37	chr7	45750165	45750165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggctggagtgattggcGctcgcaggccccagtacgac	16	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:45750165G>A	uc003tne.3	+	19	2989	c.2971G>A	c.(2971-2973)GCT>ACT	p.A991T		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	991	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGTGATTGGCGCTCGCAGGCC	0.577													A	45750165	G	A	45750165	3	1	27	1	0	0	0	0	1	0	0	0	292	1087	38	1	3045	1	ADCY1	7	45750165	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	7113	45750165	113388498	3617	27568											
ADCY1	107	broad.mit.edu	37	chr7	45750202	45750202	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgacatctggggaaacacagTcaacgtggccagtcggatgg	14	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:45750202T>C	uc003tne.3	+	19	3026	c.3008T>C	c.(3007-3009)GTC>GCC	p.V1003A		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	1003	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGAAACACAGTCAACGTGGCC	0.527													C	45750202	T	C	45750202	3	2	27	1	0	0	0	0	1	0	0	0	292	1667	58	3	3082	3	ADCY1	7	45750202	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	37	45750202	113388461	3618	27569											
IGFBP3	3486	broad.mit.edu	37	chr7	45957003	45957003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgggctctccacactgcCggcgctgcggtcttcctccg	13	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:45957003C>T	uc003tns.2	-	2	571	c.439G>A	c.(439-441)GGC>AGC	p.G147S	IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Missense_Mutation_p.G153S|IGFBP3_uc003tnt.2_Missense_Mutation_p.G50S	NM_000598	NP_000589	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	147	Ser/Thr-rich.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(2)|lung(1)	3					Mecasermin(DB01277)	TCCACACTGCCGGCGCTGCGG	0.498											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	45957003	C	T	45957003	3	4	27	1	0	0	0	0	1	0	0	0	7580	652	23	1	448	1	IGFBP3	7	45957003	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	206801	45957003	113181660	3619	27570											
TNS3	64759	broad.mit.edu	37	chr7	47408173	47408173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcgatgtccagggtgggCgagcctggggaggggcctgt	21	8	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:47408173C>T	uc003tnv.2	-	17	2437	c.2070G>A	c.(2068-2070)TCG>TCA	p.S690S	TNS3_uc003tnw.2_Silent_p.S690S	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	690						focal adhesion	protein binding			ovary(4)	4						CCAGGGTGGGCGAGCCTGGGG	0.627													T	47408173	C	T	47408173	2	4	27	1	0	0	0	0	0	0	0	1	16341	755	27	1		1	TNS3	7	47408173	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1451170	47408173	111730490	3620	27571											
TNS3	64759	broad.mit.edu	37	chr7	47408194	47408194	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctggggaggggcctgtGctcagctctgggccggctcc	18	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:47408194G>A	uc003tnv.2	-	17	2416	c.2049C>T	c.(2047-2049)AGC>AGT	p.S683S	TNS3_uc003tnw.2_Silent_p.S683S	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	683						focal adhesion	protein binding			ovary(4)	4						AGGGGCCTGTGCTCAGCTCTG	0.632													A	47408194	G	A	47408194	2	1	27	1	0	0	0	0	0	0	0	1	16341	1310	46	2		2	TNS3	7	47408194	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	21	47408194	111730469	3621	27572											
TNS3	64759	broad.mit.edu	37	chr7	47453571	47453571	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacaggctgcatggcttggTagagcttcagaaagggccgg	15	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:47453571T>C	uc003tnv.2	-	12	978	c.611A>G	c.(610-612)TAC>TGC	p.Y204C	TNS3_uc003tnw.2_Missense_Mutation_p.Y204C|TNS3_uc010kyo.1_Missense_Mutation_p.Y204C	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	204	C2 tensin-type.					focal adhesion	protein binding			ovary(4)	4						CATGGCTTGGTAGAGCTTCAG	0.468													C	47453571	T	C	47453571	3	2	27	1	0	0	0	0	1	0	0	0	16341	1638	57	3	3806	3	TNS3	7	47453571	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	45377	47453571	111685092	3622	27573											
PKD1L1	168507	broad.mit.edu	37	chr7	47869198	47869198	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacccaaggccatgaggcatAcctggaaggaaaaacatgac	10	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:47869198A>G	uc003tny.1	-	44	6560	c.6560T>C	c.(6559-6561)GTA>GCA	p.V2187A	C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_5'Flank	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2187	Helical; (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						CATGAGGCATACCTGGAAGGA	0.488													G	47869198	A	G	47869198	3	3	27	1	0	0	0	0	1	0	0	0	11964	405	14	3	2045	3	PKD1L1	7	47869198	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	415627	47869198	111269465	3623	27574											
PKD1L1	168507	broad.mit.edu	37	chr7	47894797	47894797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccatcacgggtttccttaGccattgcctgttgatgggtc	11	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:47894797G>A	uc003tny.1	-	29	4657	c.4657C>T	c.(4657-4659)CTA>TTA	p.L1553L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1553	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GGTTTCCTTAGCCATTGCCTG	0.502													A	47894797	G	A	47894797	2	1	27	1	0	0	0	0	0	0	0	1	11964	962	34	2		2	PKD1L1	7	47894797	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	25599	47894797	111243866	3624	27575											
PKD1L1	168507	broad.mit.edu	37	chr7	47897384	47897384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgtaatgaagaagggtcCggaactccatctgcccagtg	13	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:47897384C>T	uc003tny.1	-	28	4409	c.4409G>A	c.(4408-4410)CGG>CAG	p.R1470Q		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1470	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						AAGAAGGGTCCGGAACTCCAT	0.507													T	47897384	C	T	47897384	3	4	27	1	0	0	0	0	1	0	0	0	11964	652	23	1	4260	1	PKD1L1	7	47897384	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2587	47897384	111241279	3625	27576											
ABCA13	154664	broad.mit.edu	37	chr7	48269449	48269449	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatccctagaagatttagaTtggcttccactcaaccaaac	5	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:48269449T>C	uc003toq.2	+	7	685	c.660T>C	c.(658-660)GAT>GAC	p.D220D	ABCA13_uc003top.2_3'UTR|ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	220					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AAGATTTAGATTGGCTTCCAC	0.378													C	48269449	T	C	48269449	2	2	27	1	0	0	0	0	0	0	0	1	31	1490	52	3		3	ABCA13	7	48269449	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	372065	48269449	110869214	3626	27577											
ABCA13	154664	broad.mit.edu	37	chr7	48287869	48287869	+	Frame_Shift_Del	DEL	A	A	-													aagaggtcattacttggcacAaaaatatgtcagttttaata							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:48287868_48287868CA>C	uc003toq.2	+	13	1716	c.1692_1692CA>C	c.(1690-1692)cacfs	p.H564fs	ABCA13_uc010kyr.2_Frame_Shift_Del_p.H67fs	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	564					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTACTTGGCACAAAAATATGT	0.388													-	48287869	A	-	48287869	7	5	27	1	0	1	0	1	0	0	0	0	31	131	5	0	1576	0	ABCA13	7	48287869	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	18420	48287869	110850794	3627	27578											
ABCA13	154664	broad.mit.edu	37	chr7	48314550	48314550	+	Frame_Shift_Del	DEL	A	A	-													tcctgcagggagtacctggtAaaaacatcactgaaggcctc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:48314550delA	uc003toq.2	+	17	5312	c.5287delA	c.(5287-5289)AAAfs	p.K1763fs	ABCA13_uc010kyr.2_Frame_Shift_Del_p.K1266fs	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1763					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AGTACCTGGTAAAAACATCAC	0.448													-	48314550	A	-	48314550	7	5	27	1	0	1	0	1	0	0	0	0	31	363	13	0	5182	0	ABCA13	7	48314550	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	26681	48314550	110824113	3628	27579											
ABCA13	154664	broad.mit.edu	37	chr7	48314843	48314843	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtggccagtatacttgaTcatttccacctgtctcccca	6	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:48314843T>C	uc003toq.2	+	17	5605	c.5580T>C	c.(5578-5580)GAT>GAC	p.D1860D	ABCA13_uc010kyr.2_Silent_p.D1363D	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1860					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GTATACTTGATCATTTCCACC	0.418													C	48314843	T	C	48314843	2	2	27	1	0	0	0	0	0	0	0	1	31	1432	50	3		3	ABCA13	7	48314843	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	293	48314843	110823820	3629	27580											
ABCA13	154664	broad.mit.edu	37	chr7	48315257	48315257	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatctgttcaaaatattatTtcctcaaatttggaaaggac	5	7	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:48315257T>C	uc003toq.2	+	17	6019	c.5994T>C	c.(5992-5994)ATT>ATC	p.I1998I	ABCA13_uc010kyr.2_Silent_p.I1501I	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1998					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AAAATATTATTTCCTCAAATT	0.323													C	48315257	T	C	48315257	2	2	27	1	0	0	0	0	0	0	0	1	31	1829	64	3		3	ABCA13	7	48315257	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	414	48315257	110823406	3630	27581											
ABCA13	154664	broad.mit.edu	37	chr7	48315591	48315591	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttcctggaaatcctggatTcaccgtcattgaagacatta	7	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:48315591T>C	uc003toq.2	+	17	6353	c.6328T>C	c.(6328-6330)TCA>CCA	p.S2110P	ABCA13_uc010kyr.2_Missense_Mutation_p.S1613P	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2110					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AATCCTGGATTCACCGTCATT	0.348													C	48315591	T	C	48315591	3	2	27	1	0	0	0	0	1	0	0	0	31	1783	62	3	6223	3	ABCA13	7	48315591	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	334	48315591	110823072	3631	27582											
ABCA13	154664	broad.mit.edu	37	chr7	48318231	48318231	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attactaagagattagttggTgctatttcaagagcaagtga	10	4	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:48318231T>C	uc003toq.2	+	18	7465	c.7440T>C	c.(7438-7440)GGT>GGC	p.G2480G	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2480					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GATTAGTTGGTGCTATTTCAA	0.378													C	48318231	T	C	48318231	2	2	27	1	0	0	0	0	0	0	0	1	31	1683	59	3		3	ABCA13	7	48318231	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2640	48318231	110820432	3632	27583											
ABCA13	154664	broad.mit.edu	37	chr7	48318639	48318639	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaactctgatattttcagTatgtcacctagcatactctc	4	11	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:48318639T>C	uc003toq.2	+	18	7873	c.7848T>C	c.(7846-7848)AGT>AGC	p.S2616S	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2616					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						ATATTTTCAGTATGTCACCTA	0.323													C	48318639	T	C	48318639	2	2	27	1	0	0	0	0	0	0	0	1	31	1635	57	3		3	ABCA13	7	48318639	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	408	48318639	110820024	3633	27584											
ABCA13	154664	broad.mit.edu	37	chr7	48337993	48337993	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagatttgatgaagaataTcaccaagttgactgaggagc	10	5	1	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:48337993T>C	uc003toq.2	+	23	9255	c.9230T>C	c.(9229-9231)ATC>ACC	p.I3077T	ABCA13_uc010kys.1_Missense_Mutation_p.I151T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3077					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						ATGAAGAATATCACCAAGTTG	0.353													C	48337993	T	C	48337993	3	2	27	1	0	0	0	0	1	0	0	0	31	1435	50	3	9149	3	ABCA13	7	48337993	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	19354	48337993	110800670	3634	27585											
VWC2	375567	broad.mit.edu	37	chr7	49951753	49951753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcgagcggcaggccatgtGcacgagacatgaatgcaggc	14	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:49951753G>A	uc003tot.1	+	4	1506	c.950G>A	c.(949-951)TGC>TAC	p.C317Y		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	317					negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space					0						CAGGCCATGTGCACGAGACAT	0.483													A	49951753	G	A	49951753	3	1	27	1	0	0	0	0	1	0	0	0	17240	1319	46	2	960	2	VWC2	7	49951753	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1613760	49951753	109186910	3635	27586											
FIGNL1	63979	broad.mit.edu	37	chr7	50513108	50513108	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttatggtagcaatgtcAgcagtttgtaaactgcgaat	12	5	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:50513108A>G	uc003tpc.2	-	4	2255	c.1878T>C	c.(1876-1878)GCT>GCC	p.A626A	FIGNL1_uc003tpb.2_Silent_p.A515A|FIGNL1_uc003tpd.2_Silent_p.A626A|FIGNL1_uc003tpe.2_Silent_p.A626A|FIGNL1_uc010kyy.2_Silent_p.A626A	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	626					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			ovary(3)	3	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TAGCAATGTCAGCAGTTTGTA	0.428													G	50513108	A	G	50513108	2	3	27	1	0	0	0	0	0	0	0	1	5892	175	7	3		3	FIGNL1	7	50513108	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	561355	50513108	108625555	3636	27587											
FIGNL1	63979	broad.mit.edu	37	chr7	50513894	50513894	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtgctggttctgtaggTcctgccccataaggcttaca	12	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:50513894T>A	uc003tpc.2	-	4	1469	c.1092A>T	c.(1090-1092)GGA>GGT	p.G364G	FIGNL1_uc003tpb.2_Silent_p.G253G|FIGNL1_uc003tpd.2_Silent_p.G364G|FIGNL1_uc003tpe.2_Silent_p.G364G|FIGNL1_uc010kyy.2_Silent_p.G364G	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	364					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			ovary(3)	3	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				GTTCTGTAGGTCCTGCCCCAT	0.463													A	50513894	T	A	50513894	2	1	27	1	0	0	0	0	0	0	0	1	5892	1654	58	5		5	FIGNL1	7	50513894	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	786	50513894	108624769	3637	27588											
DDC	1644	broad.mit.edu	37	chr7	50531075	50531075	+	Frame_Shift_Del	DEL	T	T	-													gtgacatggaaccaagtggaTttttttggcactgtttattc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:50531074_50531074AT>A	uc003tpg.4	-	13	1499	c.1298_1298AT>T	c.(1297-1299)atcfs	p.I433fs	DDC_uc022ade.1_Frame_Shift_Del_p.I355fs|DDC_uc003tpf.4_Frame_Shift_Del_p.I433fs|DDC_uc022adb.1_Frame_Shift_Del_p.I395fs|DDC_uc022adc.1_Frame_Shift_Del_p.I385fs|DDC_uc022add.1_Frame_Shift_Del_p.I340fs	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	433					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	AACCAAGTGGATTTTTTTGGC	0.507													-	50531075	T	-	50531075	7	5	27	1	0	1	0	1	0	0	0	0	4325	1493	52	0	149	0	DDC	7	50531075	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	17181	50531075	108607588	3638	27589											
DDC	1644	broad.mit.edu	37	chr7	50535009	50535009	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaactcatgggacagctggAcatgcttcaaagaggaaagg	12	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:50535009A>G	uc003tpf.3	-	13	1231	c.1145T>C	c.(1144-1146)GTC>GCC	p.V382A	DDC_uc010kza.2_Missense_Mutation_p.V297A|DDC_uc003tpg.3_Missense_Mutation_p.V382A	NM_000790	NP_000781	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid	382					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(2)	2	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GGACAGCTGGACATGCTTCAA	0.438													G	50535009	A	G	50535009	3	3	27	1	0	0	0	0	1	0	0	0	4325	275	10	3	305	3	DDC	7	50535009	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3934	50535009	108603654	3639	27590											
COBL	23242	broad.mit.edu	37	chr7	51095676	51095676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctggggcgcgcacagaGccattgaccagctccctgct	13	15	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:51095676G>A	uc003tpr.3	-	10	3302	c.3117C>T	c.(3115-3117)GGC>GGT	p.G1039G	COBL_uc003tps.2_Silent_p.G1096G|COBL_uc011kcl.1_Silent_p.G1039G|COBL_uc003tpp.3_Silent_p.G825G|COBL_uc003tpq.3_Silent_p.G980G|COBL_uc003tpo.3_Silent_p.G581G	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	1039										skin(3)|ovary(2)	5	Glioma(55;0.08)					CGCGCACAGAGCCATTGACCA	0.617													A	51095676	G	A	51095676	2	1	27	1	0	0	0	0	0	0	0	1	3653	958	34	2		2	COBL	7	51095676	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	560667	51095676	108042987	3640	27591											
COBL	23242	broad.mit.edu	37	chr7	51096298	51096298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggggggctggtttctcCcctcccctagggggttccgg	17	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:51096298C>T	uc003tpr.3	-	10	2680	c.2495G>A	c.(2494-2496)GGG>GAG	p.G832E	COBL_uc003tps.2_Missense_Mutation_p.G889E|COBL_uc011kcl.1_Missense_Mutation_p.G832E|COBL_uc003tpp.3_Missense_Mutation_p.G618E|COBL_uc003tpq.3_Missense_Mutation_p.G773E|COBL_uc003tpo.3_Missense_Mutation_p.G374E	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	832										skin(3)|ovary(2)	5	Glioma(55;0.08)					CTGGTTTCTCCCCTCCCCTAG	0.602													T	51096298	C	T	51096298	3	4	27	1	0	0	0	0	1	0	0	0	3653	623	22	4	1306	4	COBL	7	51096298	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	622	51096298	108042365	3641	27592											
COBL	23242	broad.mit.edu	37	chr7	51096557	51096557	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagggaaatgatcctgatgcCggtggcgtgaggactcacca	14	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:51096557C>A	uc003tpr.3	-	10	2421	c.2236G>T	c.(2236-2238)GGC>TGC	p.G746C	COBL_uc003tps.2_Missense_Mutation_p.G803C|COBL_uc011kcl.1_Missense_Mutation_p.G746C|COBL_uc003tpp.3_Missense_Mutation_p.G532C|COBL_uc003tpq.3_Missense_Mutation_p.G687C|COBL_uc003tpo.3_Missense_Mutation_p.G288C	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	746										skin(3)|ovary(2)	5	Glioma(55;0.08)					ATCCTGATGCCGGTGGCGTGA	0.517													A	51096557	C	A	51096557	3	1	27	1	0	0	0	0	1	0	0	0	3653	652	23	5	1565	5	COBL	7	51096557	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	259	51096557	108042106	3642	27593											
COBL	23242	broad.mit.edu	37	chr7	51096763	51096763	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggcagcgtttttatcgTtgctgtccttttcattcacc	7	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:51096763T>A	uc003tpr.3	-	10	2215	c.2030A>T	c.(2029-2031)AAC>ATC	p.N677I	COBL_uc003tps.2_Missense_Mutation_p.N734I|COBL_uc011kcl.1_Missense_Mutation_p.N677I|COBL_uc003tpp.3_Missense_Mutation_p.N463I|COBL_uc003tpq.3_Missense_Mutation_p.N618I|COBL_uc003tpo.3_Missense_Mutation_p.N219I	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	677										skin(3)|ovary(2)	5	Glioma(55;0.08)					GTTTTTATCGTTGCTGTCCTT	0.483													A	51096763	T	A	51096763	3	1	27	1	0	0	0	0	1	0	0	0	3653	1725	60	5	1771	5	COBL	7	51096763	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	206	51096763	108041900	3643	27594											
EGFR	1956	broad.mit.edu	37	chr7	55229200	55229200	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctccgcagaggccacaGgccaggtctgccatgccttg	12	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:55229200G>T	uc003tqk.2	+	13	1753	c.1507G>T	c.(1507-1509)GGC>TGC	p.G503C	EGFR_uc003tqi.2_Missense_Mutation_p.G503C|EGFR_uc003tqj.2_Missense_Mutation_p.G503C|EGFR_uc010kzg.1_Missense_Mutation_p.G458C|EGFR_uc011kco.1_Missense_Mutation_p.G450C|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	503	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGAGGCCACAGGCCAGGTCTG	0.692		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55229200	G	T	55229200	3	4	27	1	0	0	0	0	1	0	0	0	4967	1000	35	5	1568	5	EGFR	7	55229200	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4132437	55229200	103909463	3644	27595											
LANCL2	55915	broad.mit.edu	37	chr7	55496101	55496101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctagattacggagcacacGggtgccgcattcctgacaga	12	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:55496101G>A	uc003tqp.2	+	8	1797	c.1219G>A	c.(1219-1221)GGG>AGG	p.G407R		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	407					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			ovary(1)|skin(1)	2	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			CGGAGCACACGGGTGCCGCAT	0.418													A	55496101	G	A	55496101	3	1	27	1	0	0	0	0	1	0	0	0	8621	1116	39	1	1249	1	LANCL2	7	55496101	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	266901	55496101	103642562	3645	27596											
GBAS	2631	broad.mit.edu	37	chr7	56062618	56062618	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgcttcagacaggatggtAacgaagccgtcggaggattc	13	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:56062618A>G	uc003tre.1	+	8	657	c.649A>G	c.(649-651)AAC>GAC	p.N217D	GBAS_uc003trf.1_Missense_Mutation_p.N178D	NM_001483	NP_001474	O75323	NIPS2_HUMAN	nipsnap homolog 2	217						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			central_nervous_system(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACAGGATGGTAACGAAGCCGT	0.443													G	56062618	A	G	56062618	3	3	27	1	0	0	0	0	1	0	0	0	6269	362	13	3	679	3	GBAS	7	56062618	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	566517	56062618	103076045	3646	27597											
SUMF2	25870	broad.mit.edu	37	chr7	56132072	56132072	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgcgtggctcaagctagGtcagtgaaccggccgtccat	14	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:56132072G>A	uc003trv.2	+	1	155	c.124_splice	c.e1+1	p.G42_splice	PSPH_uc003trj.2_Intron|SUMF2_uc003tro.2_Splice_Site_p.G42_splice|SUMF2_uc011kcv.1_Splice_Site|SUMF2_uc011kcw.1_Splice_Site_p.G42_splice|SUMF2_uc011kcx.1_Splice_Site_p.G42_splice|SUMF2_uc003trt.2_Splice_Site|SUMF2_uc011kcy.1_Splice_Site_p.G42_splice|SUMF2_uc011kcz.1_Splice_Site_p.G42_splice|SUMF2_uc003tru.2_Splice_Site|SUMF2_uc011kda.1_Splice_Site|SUMF2_uc003trx.2_Splice_Site	NM_001130069	NP_001123541	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2 isoform e							endoplasmic reticulum lumen	metal ion binding			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTCAAGCTAGGTCAGTGAACC	0.706													A	56132072	G	A	56132072	5	1	27	1	0	0	0	0	0	0	1	0	15383	1275	44	4	127	4	SUMF2	7	56132072	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	69454	56132072	103006591	3647	27598											
ZNF680	340252	broad.mit.edu	37	chr7	63982663	63982663	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaagactttcacgtatttatCacattgaaatattttgctct	4	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:63982663C>T	uc003tta.2	-	4	642	c.469G>A	c.(469-471)GAT>AAT	p.D157N	ZNF680_uc010kzr.2_Missense_Mutation_p.D84N	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	zinc finger protein 680 isoform 1	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.118)|all_lung(88;0.243)				ACGTATTTATCACATTGAAAT	0.299													T	63982663	C	T	63982663	3	4	27	1	0	0	0	0	1	0	0	0	18084	826	29	4	1127	4	ZNF680	7	63982663	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	7850591	63982663	95156000	3648	27599											
ZNF138	7697	broad.mit.edu	37	chr7	64291846	64291846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctctgtgttctcgttttGcccaagacctttggctagag	10	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:64291846G>A	uc011kdp.1	+	5	539	c.363G>A	c.(361-363)TTG>TTA	p.L121L	ZNF138_uc003ttg.2_Missense_Mutation_p.A19T|ZNF138_uc011kdq.1_Missense_Mutation_p.A50T|ZNF138_uc003tth.2_RNA|ZNF138_uc010kzs.2_Missense_Mutation_p.A44T	NM_001160183	NP_001153655	B4DFX2	B4DFX2_HUMAN	zinc finger protein 138 isoform 2	121					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding				0		Lung NSC(55;0.0795)|all_lung(88;0.18)				TTCTCGTTTTGCCCAAGACCT	0.328													A	64291846	G	A	64291846	2	1	27	1	0	0	0	0	0	0	0	1	17724	1319	46	2		2	ZNF138	7	64291846	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	309183	64291846	94846817	3649	27600											
ZNF273	10793	broad.mit.edu	37	chr7	64377979	64377979	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaccactgacatttagggaTgtggccatagaattctctct	10	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:64377979T>C	uc003tto.2	+	2	199	c.123T>C	c.(121-123)GAT>GAC	p.D41D	ZNF273_uc003ttl.2_5'UTR|ZNF273_uc003ttm.1_RNA|ZNF273_uc003ttn.2_5'UTR|ZNF273_uc003ttp.1_RNA	NM_021148	NP_066971	Q14593	ZN273_HUMAN	zinc finger protein 273	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CATTTAGGGATGTGGCCATAG	0.413													C	64377979	T	C	64377979	2	2	27	1	0	0	0	0	0	0	0	1	17805	1461	51	3		3	ZNF273	7	64377979	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	86133	64377979	94760684	3650	27601											
ZNF117	51351	broad.mit.edu	37	chr7	64438701	64438701	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccacattcttcacatttgtaGagtttctctccagtatgaat	5	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:64438701G>A	uc003ttr.2	-	4	2533	c.1248C>T	c.(1246-1248)CTC>CTT	p.L416L		NM_015852	NP_056936	Q03924	ZN117_HUMAN	zinc finger protein 117	416						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CACATTTGTAGAGTTTCTCTC	0.373													A	64438701	G	A	64438701	2	1	27	1	0	0	0	0	0	0	0	1	17714	929	33	4		4	ZNF117	7	64438701	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	60722	64438701	94699962	3651	27602											
CRCP	27297	broad.mit.edu	37	chr7	65599349	65599349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcacagcattgaaaagccAcaagttgaccaagtaagtaa	7	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:65599349A>G	uc003tus.2	+	4	372	c.227A>G	c.(226-228)CAC>CGC	p.H76R	CRCP_uc003tuv.2_RNA|CRCP_uc011kdw.1_Missense_Mutation_p.H69R|CRCP_uc003tut.2_Missense_Mutation_p.H43R|CRCP_uc003tuu.2_Intron	NM_014478	NP_055293	O75575	RPC9_HUMAN	calcitonin gene-related peptide-receptor	76					acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA polymerase III complex|nucleus|plasma membrane	calcitonin receptor activity|DNA-directed RNA polymerase activity|nucleotide binding				0						TTGAAAAGCCACAAGTTGACC	0.378													G	65599349	A	G	65599349	3	3	27	1	0	0	0	0	1	0	0	0	3852	159	6	3	331	3	CRCP	7	65599349	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1160648	65599349	93539314	3652	27603											
TPST1	8460	broad.mit.edu	37	chr7	65705699	65705699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgcacatcctgacattcGctgtggagaggaaaccaggg	14	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:65705699G>A	uc003tuw.2	+	2	639	c.287G>A	c.(286-288)CGC>CAC	p.R96H	TPST1_uc010kzy.2_Intron|TPST1_uc010kzz.2_Missense_Mutation_p.R96H|TPST1_uc010laa.2_Missense_Mutation_p.R96H	NM_003596	NP_003587	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	96	Lumenal (Potential).				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity				0						CCTGACATTCGCTGTGGAGAG	0.512													A	65705699	G	A	65705699	3	1	27	1	0	0	0	0	1	0	0	0	16424	1087	38	1	289	1	TPST1	7	65705699	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	106350	65705699	93432964	3653	27604											
RABGEF1	27342	broad.mit.edu	37	chr7	66236966	66236966	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaggatgtggttactacgGcaaccctgcctggcagggtt	14	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:66236966G>T	uc011kee.1	+	2	286	c.122G>T	c.(121-123)GGC>GTC	p.G41V	RABGEF1_uc003tvf.2_5'UTR|RABGEF1_uc003tvg.2_5'UTR|RABGEF1_uc010lag.2_Missense_Mutation_p.G27V|RABGEF1_uc003tvh.2_Missense_Mutation_p.G27V|RABGEF1_uc003tvi.2_5'UTR	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	165	Interaction with ubiquitinated proteins.|A20-type.				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			ovary(1)	1						GGTTACTACGGCAACCCTGCC	0.542													T	66236966	G	T	66236966	3	4	27	1	0	0	0	0	1	0	0	0	12966	1203	42	5	82	5	RABGEF1	7	66236966	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	531267	66236966	92901697	3654	27605											
AUTS2	26053	broad.mit.edu	37	chr7	70246639	70246639	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacataagctggactttggActgaaacctgagttcctgag	10	10	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:70246639A>G	uc003tvw.3	+	15	2786	c.2043A>G	c.(2041-2043)GGA>GGG	p.G681G	AUTS2_uc003tvx.3_Silent_p.G657G|AUTS2_uc011keg.1_Silent_p.G133G	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	681										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TGGACTTTGGACTGAAACCTG	0.542													G	70246639	A	G	70246639	2	3	27	1	0	0	0	0	0	0	0	1	1225	262	10	3		3	AUTS2	7	70246639	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4009673	70246639	88892024	3655	27606											
AUTS2	26053	broad.mit.edu	37	chr7	70255176	70255176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggaaggaagaccatgacCtgcctccagaggccccgcag	13	14	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:70255176C>T	uc003tvw.3	+	19	3717	c.2974C>T	c.(2974-2976)CTG>TTG	p.L992L	AUTS2_uc003tvx.3_Silent_p.L968L|AUTS2_uc011keg.1_Silent_p.L444L	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	992										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGACCATGACCTGCCTCCAGA	0.701													T	70255176	C	T	70255176	2	4	27	1	0	0	0	0	0	0	0	1	1225	680	24	4		4	AUTS2	7	70255176	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	8537	70255176	88883487	3656	27607											
WBSCR17	64409	broad.mit.edu	37	chr7	70880917	70880917	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtatgtccacaaacgctAccccgggctggtgaaggtgg	15	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:70880917A>G	uc003tvy.2	+	4	632	c.632A>G	c.(631-633)TAC>TGC	p.Y211C	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	211	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CACAAACGCTACCCCGGGCTG	0.512													G	70880917	A	G	70880917	3	3	27	1	0	0	0	0	1	0	0	0	17261	391	14	3	646	3	WBSCR17	7	70880917	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	625741	70880917	88257746	3657	27608											
WBSCR17	64409	broad.mit.edu	37	chr7	71135084	71135084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatacaataataccgttgCttacggggaggtaattcaga	10	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:71135084C>T	uc003tvy.2	+	8	1394	c.1394C>T	c.(1393-1395)GCT>GTT	p.A465V	WBSCR17_uc003tvz.2_Missense_Mutation_p.A164V	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	465	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AATACCGTTGCTTACGGGGAG	0.423													T	71135084	C	T	71135084	3	4	27	1	0	0	0	0	1	0	0	0	17261	797	28	2	1424	2	WBSCR17	7	71135084	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	254167	71135084	88003579	3658	27609											
STAG3L3	442578	broad.mit.edu	37	chr7	72470007	72470007	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gactcacttaaggataagtaTcagtaatctgacggcctcca	8	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:72470007T>A	uc003txd.3	-	6	850	c.334A>T	c.(334-336)ATA>TTA	p.I112L	FKBP6_uc003twz.2_Intron|STAG3L3_uc011kem.1_RNA|STAG3L3_uc003txa.2_RNA|STAG3L3_uc010laq.1_RNA	NM_001013739	NP_001013761	P0CL85	ST3L3_HUMAN	stromal antigen 3-like 3	112						nucleus	binding				0		Lung NSC(55;0.197)				AGGATAAGTATCAGTAATCTG	0.507													A	72470007	T	A	72470007	3	1	27	1	0	0	0	0	1	0	0	0	15245	1435	50	5	78	5	STAG3L3	7	72470007	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1334923	72470007	86668656	3659	27610											
MLXIPL	51085	broad.mit.edu	37	chr7	73010717	73010717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgctgtctggacggccccGgctgaggatgggttgcgggg	20	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:73010717G>A	uc003tyn.1	-	12	1963	c.1915C>T	c.(1915-1917)CGG>TGG	p.R639W	MLXIPL_uc003tyj.1_Missense_Mutation_p.R20W|MLXIPL_uc003tyk.1_Missense_Mutation_p.R639W|MLXIPL_uc003tyl.1_Missense_Mutation_p.R639W|MLXIPL_uc003tym.1_Missense_Mutation_p.R639W|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.R545W	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	639					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGACGGCCCCGGCTGAGGATG	0.657													A	73010717	G	A	73010717	3	1	27	1	0	0	0	0	1	0	0	0	9637	1115	39	1	667	1	MLXIPL	7	73010717	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	540710	73010717	86127946	3660	27611											
ABHD11	83451	broad.mit.edu	37	chr7	73153044	73153044	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccctcgcgaagctaggGccgtgggggccgagtccctc	16	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:73153044G>A	uc003tzb.2	-	1	141	c.84C>T	c.(82-84)GGC>GGT	p.G28G	RFC2_uc011kfa.1_Intron|ABHD11_uc011kfb.1_Silent_p.G28G|ABHD11_uc003tzc.2_Silent_p.G28G|ABHD11_uc003tza.2_5'UTR|ABHD11_uc003tzf.2_Silent_p.G28G|ABHD11_uc011kfc.1_Silent_p.G28G	NM_148912	NP_683710	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11 isoform 1	28							hydrolase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				CGAAGCTAGGGCCGTGGGGGC	0.716													A	73153044	G	A	73153044	2	1	27	1	0	0	0	0	0	0	0	1	75	1190	42	2		2	ABHD11	7	73153044	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	142327	73153044	85985619	3661	27612											
CLDN4	1364	broad.mit.edu	37	chr7	73245601	73245601	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggctggccgtcatgctgTgctgcgcgctgcccatgtgg	16	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:73245601T>C	uc003tzi.3	+	1	409	c.70T>C	c.(70-72)TGC>CGC	p.C24R	RFC2_uc011kfa.1_Intron|CLDN4_uc003tzh.1_RNA	NM_001305	NP_001296	O14493	CLD4_HUMAN	claudin 4	24	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity				0		Lung NSC(55;0.159)				CGTCATGCTGTGCTGCGCGCT	0.637													C	73245601	T	C	73245601	3	2	27	1	0	0	0	0	1	0	0	0	3487	1696	59	3	72	3	CLDN4	7	73245601	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	92557	73245601	85893062	3662	27613											
CLDN4	1364	broad.mit.edu	37	chr7	73246012	73246012	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcagaagcgggagatgGgtgcctcgctctacgtcggc	17	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:73246012G>T	uc003tzi.3	+	1	820	c.481G>T	c.(481-483)GGT>TGT	p.G161C	RFC2_uc011kfa.1_Intron|CLDN4_uc003tzh.1_RNA	NM_001305	NP_001296	O14493	CLD4_HUMAN	claudin 4	161	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity				0		Lung NSC(55;0.159)				GCGGGAGATGGGTGCCTCGCT	0.647													T	73246012	G	T	73246012	3	4	27	1	0	0	0	0	1	0	0	0	3487	1232	43	5	483	5	CLDN4	7	73246012	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	411	73246012	85892651	3663	27614											
ELN	2006	broad.mit.edu	37	chr7	73462858	73462858	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcccccaggcagcagcagcAgcggcagctaaagcagcagc	14	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:73462858A>G	uc003tzw.2	+	15	862	c.771A>G	c.(769-771)GCA>GCG	p.A257A	RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_Splice_Site|ELN_uc011kfe.1_Silent_p.A226A|ELN_uc003tzn.2_Silent_p.A257A|ELN_uc003tzz.2_Silent_p.A221A|ELN_uc003tzo.2_Silent_p.A243A|ELN_uc003tzp.2_Silent_p.A213A|ELN_uc003tzq.2_Silent_p.A140A|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Silent_p.A257A|ELN_uc003tzt.2_Silent_p.A262A|ELN_uc003tzu.2_Silent_p.A262A|ELN_uc003tzv.2_Silent_p.A247A|ELN_uc003tzx.2_Silent_p.A247A|ELN_uc011kff.1_Silent_p.A257A|ELN_uc003tzy.2_Silent_p.A252A	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	257	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)	cagcagcagcagcggcagcta	0.507			T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome						G	73462858	A	G	73462858	2	3	27	1	0	0	0	0	0	0	0	1	5071	175	7	3		3	ELN	7	73462858	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	216846	73462858	85675805	3664	27615											
ELN	2006	broad.mit.edu	37	chr7	73462877	73462877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcggcagctaaagcagcaGcaaagttcggtgagtgcccc	13	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:73462877G>A	uc003tzw.2	+	15	881	c.790G>A	c.(790-792)GCA>ACA	p.A264T	RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_RNA|ELN_uc011kfe.1_Missense_Mutation_p.A233T|ELN_uc003tzn.2_Missense_Mutation_p.A264T|ELN_uc003tzz.2_Missense_Mutation_p.A228T|ELN_uc003tzo.2_Missense_Mutation_p.A250T|ELN_uc003tzp.2_Missense_Mutation_p.A220T|ELN_uc003tzq.2_Missense_Mutation_p.A147T|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Missense_Mutation_p.A264T|ELN_uc003tzt.2_Missense_Mutation_p.A269T|ELN_uc003tzu.2_Missense_Mutation_p.A269T|ELN_uc003tzv.2_Missense_Mutation_p.A254T|ELN_uc003tzx.2_Missense_Mutation_p.A254T|ELN_uc011kff.1_Missense_Mutation_p.A264T|ELN_uc003tzy.2_Missense_Mutation_p.A259T	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	264	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)	taaagcagcagcaAAGTTCGG	0.507			T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome						A	73462877	G	A	73462877	3	1	27	1	0	0	0	0	1	0	0	0	5071	971	34	2	863	2	ELN	7	73462877	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	19	73462877	85675786	3665	27616											
LIMK1	3984	broad.mit.edu	37	chr7	73510954	73510954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcccctctcctgcaggtGttgtgactgcagtgcctccc	11	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:73510954G>A	uc003uaa.1	+	3	320	c.155G>A	c.(154-156)TGT>TAT	p.C52Y	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.C18Y|LIMK1_uc003uac.1_5'Flank	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	52	LIM zinc-binding 1.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			stomach(2)|ovary(1)	3		Lung NSC(55;0.137)				TCCTGCAGGTGTTGTGACTGC	0.607													A	73510954	G	A	73510954	3	1	27	1	0	0	0	0	1	0	0	0	8801	1377	48	4	165	4	LIMK1	7	73510954	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	48077	73510954	85627709	3666	27617											
EIF4H	7458	broad.mit.edu	37	chr7	73604186	73604186	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcacttcgtgtggacattgCagaaggcagaaaacaagata	11	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:73604186C>A	uc003uad.1	+	4	355	c.347C>A	c.(346-348)GCA>GAA	p.A116E	RFC2_uc011kfa.1_Intron|EIF4H_uc011kfg.1_Missense_Mutation_p.A116E|EIF4H_uc010lbm.2_Missense_Mutation_p.A116E|EIF4H_uc003uae.1_Missense_Mutation_p.A116E|EIF4H_uc003uaf.1_RNA|MIR590_hsa-mir-590|MI0003602_5'Flank	NM_022170	NP_071496	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	116	RRM.				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0						GTGGACATTGCAGAAGGCAGA	0.403													A	73604186	C	A	73604186	3	1	27	1	0	0	0	0	1	0	0	0	5039	710	25	5	361	5	EIF4H	7	73604186	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	93232	73604186	85534477	3667	27618											
RFC2	5982	broad.mit.edu	37	chr7	73666758	73666758	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaaaaaaaagccactcaCctctagcctgctcacggtgt	6	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:73666758C>T	uc003uaj.2	-	2	208	c.183_splice	c.e2+1	p.E61_splice	RFC2_uc011kfa.1_Splice_Site|RFC2_uc003uak.2_Splice_Site_p.E61_splice|RFC2_uc010lbp.2_Splice_Site_p.E24_splice|RFC2_uc003ual.2_Intron	NM_181471	NP_852136	P35250	RFC2_HUMAN	replication factor C 2 isoform 1						cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			liver(1)|central_nervous_system(1)	2						aaGCCACTCACCTCTAGCCTG	0.229													T	73666758	C	T	73666758	5	4	27	1	0	0	0	0	0	0	1	0	13245	521	18	4	920	4	RFC2	7	73666758	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	62572	73666758	85471905	3668	27619											
CLIP2	7461	broad.mit.edu	37	chr7	73731916	73731916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagccccccggccgtgggGggaagcactccagccccatg	14	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:73731916G>A	uc003uam.2	+	2	367	c.40G>A	c.(40-42)GGG>AGG	p.G14R	CLIP2_uc003uan.2_Missense_Mutation_p.G14R	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	14						microtubule associated complex				skin(3)	3						CGGCCGTGGGGGGAAGCACTC	0.662													A	73731916	G	A	73731916	3	1	27	1	0	0	0	0	1	0	0	0	3533	1232	43	4	42	4	CLIP2	7	73731916	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	65158	73731916	85406747	3669	27620											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73935629	73935629	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgtccatgacaagtcaggTaggacagcgcccacgaagca	11	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:73935629T>C	uc003uaq.2	+	7	1399	c.1006_splice	c.e7+2	p.E336_splice	GTF2IRD1_uc010lbq.2_Splice_Site_p.E368_splice|GTF2IRD1_uc003uap.2_Splice_Site_p.E336_splice|GTF2IRD1_uc003uar.1_Splice_Site_p.E336_splice	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1							nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						ACAAGTCAGGTAGGACAGCGC	0.552													C	73935629	T	C	73935629	5	2	27	1	0	0	0	0	0	0	1	0	6868	1652	57	3	1030	3	GTF2IRD1	7	73935629	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	203713	73935629	85203034	3670	27621											
POM121C	100101267	broad.mit.edu	37	chr7	75068445	75068445	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaaaagaagcggggacTccactggccaccaggggctc	14	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:75068445T>C	uc010lde.1	-	4	1011	c.1011A>G	c.(1009-1011)GGA>GGG	p.G337G	POM121C_uc003udk.3_Silent_p.G95G			A8CG34	P121C_HUMAN	Homo sapiens POM121-2 mRNA for nuclear pore membrane protein 121-2, partial cds.	337	Required for targeting to the nucleus and nuclear pore complex.|Pore side (Potential).|Ser-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding				0						AAGCGGGGACTCCACTGGCCA	0.463													C	75068445	T	C	75068445	2	2	27	1	0	0	0	0	0	0	0	1	12240	1538	54	3		3	POM121C	7	75068445	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1132816	75068445	84070218	3671	27622											
RHBDD2	57414	broad.mit.edu	37	chr7	75517387	75517387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccaccctgtgtcccagaCgcagcacgccagtggtcaga	11	15	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:75517387C>T	uc003udw.1	+	4	899	c.815C>T	c.(814-816)ACG>ATG	p.T272M	RHBDD2_uc003udv.1_Missense_Mutation_p.T131M	NM_001040456	NP_001035546	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2 isoform a	272						integral to membrane	serine-type endopeptidase activity				0						GTGTCCCAGACGCAGCACGCC	0.642													T	75517387	C	T	75517387	3	4	27	1	0	0	0	0	1	0	0	0	13317	536	19	1	829	1	RHBDD2	7	75517387	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	448942	75517387	83621276	3672	27623											
POR	5447	broad.mit.edu	37	chr7	75614176	75614176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacctggacatcaccaaccCgccgcgtaccaacgtgctgt	8	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:75614176C>T	uc003udy.2	+	11	1230	c.1148C>T	c.(1147-1149)CCG>CTG	p.P383L	POR_uc011kgc.1_Missense_Mutation_p.P191L|POR_uc011kgd.1_Missense_Mutation_p.P282L|POR_uc011kge.1_Missense_Mutation_p.P121L|POR_uc003uea.2_5'Flank	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	380	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	ATCACCAACCCGCCGCGTACC	0.647													T	75614176	C	T	75614176	3	4	27	1	0	0	0	0	1	0	0	0	12257	652	23	1	1186	1	POR	7	75614176	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	96789	75614176	83524487	3673	27624											
YWHAG	7532	broad.mit.edu	37	chr7	75959437	75959437	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtctgcagatgtcttctgCtcaatgctactgatgaccct	8	13	4	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:75959437C>T	uc011kgj.1	-	2	418	c.201G>A	c.(199-201)GAG>GAA	p.E67E		NM_012479	NP_036611	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan	67					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			ovary(1)|lung(1)	2						ATGTCTTCTGCTCAATGCTAC	0.537													T	75959437	C	T	75959437	2	4	27	1	0	0	0	0	0	0	0	1	17500	796	28	2		2	YWHAG	7	75959437	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	345261	75959437	83179226	3674	27625											
DTX2	113878	broad.mit.edu	37	chr7	76126704	76126704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactccctgtgtgtcttagcCgcgcaccccagcccaccagc	9	19	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:76126704C>T	uc003uff.3	+	7	1616	c.1060C>T	c.(1060-1062)CGC>TGC	p.R354C	DTX2_uc011kgk.1_Missense_Mutation_p.R263C|DTX2_uc003ufg.3_Missense_Mutation_p.R354C|DTX2_uc003ufh.3_Missense_Mutation_p.R354C|DTX2_uc003ufj.3_Intron|DTX2_uc003ufk.3_Intron|DTX2_uc003ufl.1_Missense_Mutation_p.R17C|DTX2_uc003ufm.3_5'Flank	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	deltex 2 isoform a	354					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GTGTCTTAGCCGCGCACCCCA	0.557													T	76126704	C	T	76126704	3	4	27	1	0	0	0	0	1	0	0	0	4794	652	23	1	1074	1	DTX2	7	76126704	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	167267	76126704	83011959	3675	27626											
FGL2	10875	broad.mit.edu	37	chr7	76825713	76825713	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccagaaaatcccattacgGacacctctgtatttttggtg	7	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:76825713G>A	uc003ugb.2	-	2	1243	c.1203C>T	c.(1201-1203)GTC>GTT	p.V401V	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	fibrinogen-like 2 precursor	401	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			skin(2)	2						TCCCATTACGGACACCTCTGT	0.473													A	76825713	G	A	76825713	2	1	27	1	0	0	0	0	0	0	0	1	5873	1161	41	4		4	FGL2	7	76825713	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	699009	76825713	82312950	3676	27627											
FGL2	10875	broad.mit.edu	37	chr7	76829058	76829058	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgccacaaccaaaaaaCcgtaagtggcaagaacagct	8	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:76829058C>A	uc003ugb.2	-	1	93	c.53G>T	c.(52-54)GGT>GTT	p.G18V	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	fibrinogen-like 2 precursor	18					signal transduction	fibrinogen complex	receptor binding			skin(2)	2						AACCAAAAAACCGTAAGTGGC	0.498													A	76829058	C	A	76829058	3	1	27	1	0	0	0	0	1	0	0	0	5873	507	18	5	1274	5	FGL2	7	76829058	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3345	76829058	82309605	3677	27628											
MAGI2	9863	broad.mit.edu	37	chr7	77789472	77789472	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgaagccttcagggggagaGgcattgctactgggggcagc	18	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:77789472G>T	uc003ugx.2	-	16	2969	c.2715C>A	c.(2713-2715)GCC>GCA	p.A905A	MAGI2_uc003ugy.2_Silent_p.A891A|MAGI2_uc010ldx.1_Silent_p.A498A	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	905						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CAGGGGGAGAGGCATTGCTAC	0.582													T	77789472	G	T	77789472	2	4	27	1	0	0	0	0	0	0	0	1	9191	987	35	5		5	MAGI2	7	77789472	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	960414	77789472	81349191	3678	27629											
MAGI2	9863	broad.mit.edu	37	chr7	78636429	78636429	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgtgcggaggtagaggTtgtcacgaatgatttgctga	15	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:78636429T>C	uc003ugx.2	-	2	649	c.395A>G	c.(394-396)AAC>AGC	p.N132S	MAGI2_uc003ugy.2_Missense_Mutation_p.N132S	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	132	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GAGGTAGAGGTTGTCACGAAT	0.368													C	78636429	T	C	78636429	3	2	27	1	0	0	0	0	1	0	0	0	9191	1725	60	3	4056	3	MAGI2	7	78636429	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	846957	78636429	80502234	3679	27630											
MAGI2	9863	broad.mit.edu	37	chr7	79082520	79082520	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcccccaggtaggggaactgTccattctcggcgcccccctt	10	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:79082520T>A	uc003ugx.2	-	1	371	c.117A>T	c.(115-117)GGA>GGT	p.G39G	MAGI2_uc003ugy.2_Silent_p.G39G|uc010lea.1_5'Flank	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	39	PDZ 1.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGGGGAACTGTCCATTCTCGG	0.592													A	79082520	T	A	79082520	2	1	27	1	0	0	0	0	0	0	0	1	9191	1654	58	5		5	MAGI2	7	79082520	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	446091	79082520	80056143	3680	27631											
HGF	3082	broad.mit.edu	37	chr7	81374395	81374395	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctgattctgtatgatccaTgagacctcgataactctccc	7	13	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:81374395T>C	uc003uhl.2	-	6	832	c.667A>G	c.(667-669)ATG>GTG	p.M223V	HGF_uc003uhm.2_Missense_Mutation_p.M218V|HGF_uc003uhn.1_Missense_Mutation_p.M223V|HGF_uc003uho.1_Missense_Mutation_p.M218V	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	223	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						GTATGATCCATGAGACCTCGA	0.393													C	81374395	T	C	81374395	3	2	27	1	0	0	0	0	1	0	0	0	7085	1464	51	3	1583	3	HGF	7	81374395	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2291875	81374395	77764268	3681	27632											
HGF	3082	broad.mit.edu	37	chr7	81381566	81381566	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtctttaccccgatagctCgaaggcaaaaagctagtttt	9	9	1	0	rs137853235		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:81381566C>T	uc003uhl.2	-	5	660	c.495G>A	c.(493-495)TCG>TCA	p.S165S	HGF_uc003uhm.2_Intron|HGF_uc003uhn.1_Silent_p.S165S|HGF_uc003uho.1_Intron|HGF_uc003uhp.2_Silent_p.S165S	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	165	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						CCCGATAGCTCGAAGGCAAAA	0.403													T	81381566	C	T	81381566	2	4	27	1	0	0	0	0	0	0	0	1	7085	871	31	1		1	HGF	7	81381566	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	7171	81381566	77757097	3682	27633											
HGF	3082	broad.mit.edu	37	chr7	81388093	81388093	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggggaaccagaggcattgTtttcttgctttatcaaaaac	9	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:81388093T>C	uc003uhl.2	-	3	447	c.282A>G	c.(280-282)AAA>AAG	p.K94K	HGF_uc003uhm.2_Silent_p.K94K|HGF_uc003uhn.1_Silent_p.K94K|HGF_uc003uho.1_Silent_p.K94K|HGF_uc003uhp.2_Silent_p.K94K	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	94	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						AGAGGCATTGTTTTCTTGCTT	0.338													C	81388093	T	C	81388093	2	2	27	1	0	0	0	0	0	0	0	1	7085	1722	60	3		3	HGF	7	81388093	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	6527	81388093	77750570	3683	27634											
CACNA2D1	781	broad.mit.edu	37	chr7	81667483	81667483	+	Frame_Shift_Del	DEL	T	T	-													ttcaccgcgtctttcaacacTtttttatttcttacatttgc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:81667482_81667482CT>C	uc003uhr.1	-	10	1205	c.949_949AG>G	c.(949-951)gtgfs	p.V317fs		NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	317	VWFA.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TCTTTCAACACTTTTTTATTT	0.323													-	81667483	T	-	81667483	7	5	27	1	0	1	0	1	0	0	0	0	2548	1606	56	0	2443	0	CACNA2D1	7	81667483	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	279390	81667483	77471180	3684	27635											
PCLO	27445	broad.mit.edu	37	chr7	82579252	82579252	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcaggtgctgaaatgtgtTtaattatttctaccttggca	8	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:82579252T>C	uc003uhx.2	-	6	10941	c.10652A>G	c.(10651-10653)AAA>AGA	p.K3551R	PCLO_uc003uhv.2_Missense_Mutation_p.K3551R|PCLO_uc010lec.2_Missense_Mutation_p.K516R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3482					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TGAAATGTGTTTAATTATTTC	0.438													C	82579252	T	C	82579252	3	2	27	1	0	0	0	0	1	0	0	0	11583	1841	64	3	4873	3	PCLO	7	82579252	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	911769	82579252	76559411	3685	27636											
PCLO	27445	broad.mit.edu	37	chr7	82583904	82583904	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggatagagagtgttgcaCtgctggtcgaatctgtaaga	14	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:82583904C>A	uc003uhx.2	-	5	6654	c.6365G>T	c.(6364-6366)AGT>ATT	p.S2122I	PCLO_uc003uhv.2_Missense_Mutation_p.S2122I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2053					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GAGTGTTGCACTGCTGGTCGA	0.408													A	82583904	C	A	82583904	3	1	27	1	0	0	0	0	1	0	0	0	11583	565	20	5	9164	5	PCLO	7	82583904	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4652	82583904	76554759	3686	27637											
PCLO	27445	broad.mit.edu	37	chr7	82763785	82763785	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgctatccttaataggtggTggctttttttctgtttctgt	9	6	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:82763785T>A	uc003uhx.2	-	3	3370	c.3081A>T	c.(3079-3081)CCA>CCT	p.P1027P	PCLO_uc003uhv.2_Silent_p.P1027P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	973	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TAATAGGTGGTGGCTTTTTTT	0.428													A	82763785	T	A	82763785	2	1	27	1	0	0	0	0	0	0	0	1	11583	1683	59	5		5	PCLO	7	82763785	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	179881	82763785	76374878	3687	27638											
PCLO	27445	broad.mit.edu	37	chr7	82784146	82784146	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgtgttaaaattggccTtttctggaacatgcaacaga	9	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:82784146T>C	uc003uhx.2	-	2	2100	c.1811A>G	c.(1810-1812)AAG>AGG	p.K604R	PCLO_uc003uhv.2_Missense_Mutation_p.K604R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	550	C4-type (Potential).|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AAAATTGGCCTTTTCTGGAAC	0.433													C	82784146	T	C	82784146	3	2	27	1	0	0	0	0	1	0	0	0	11583	1609	56	3	13730	3	PCLO	7	82784146	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	20361	82784146	76354517	3688	27639											
PCLO	27445	broad.mit.edu	37	chr7	82785615	82785615	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacctgaaagtgtctgtagtTctacttttactgagaccagg	10	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:82785615T>G	uc003uhx.2	-	2	631	c.342A>C	c.(340-342)AGA>AGC	p.R114S	PCLO_uc003uhv.2_Missense_Mutation_p.R114S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	114					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TGTCTGTAGTTCTACTTTTAC	0.468													G	82785615	T	G	82785615	3	3	27	1	0	0	0	0	1	0	0	0	11583	1780	62	5	15199	5	PCLO	7	82785615	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1469	82785615	76353048	3689	27640											
SEMA3D	223117	broad.mit.edu	37	chr7	84671486	84671486	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggaaagaaggaacttaCgaagctcatcaaagtaagta	10	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:84671486C>T	uc003uic.2	-	8	1016	c.976_splice	c.e8+1	p.Q326_splice	SEMA3D_uc010led.2_Splice_Site_p.Q326_splice|SEMA3D_uc003uib.2_5'Flank	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor						cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						AAGGAACTTACGAAGCTCATC	0.413													T	84671486	C	T	84671486	5	4	27	1	0	0	0	0	0	0	1	0	14027	550	19	1	1396	1	SEMA3D	7	84671486	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1885871	84671486	74467177	3690	27641											
GRM3	2913	broad.mit.edu	37	chr7	86415639	86415639	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacgcatccaccagcgccaaActcagtgataagtcgcgcta	8	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:86415639A>G	uc003uid.2	+	3	1630	c.531A>G	c.(529-531)AAA>AAG	p.K177K	GRM3_uc010lef.2_Silent_p.K175K|GRM3_uc010leg.2_Silent_p.K49K|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	177	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCAGCGCCAAACTCAGTGATA	0.552													G	86415639	A	G	86415639	2	3	27	1	0	0	0	0	0	0	0	1	6798	40	2	3		3	GRM3	7	86415639	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1744153	86415639	72723024	3691	27642											
KIAA1324L	222223	broad.mit.edu	37	chr7	86541542	86541542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggtagaaaaagcagtcaCtatagcaaaccgaatggtcc	9	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:86541542C>T	uc011kha.1	-	15	2200	c.2015G>A	c.(2014-2016)AGT>AAT	p.S672N	KIAA1324L_uc003uif.1_Missense_Mutation_p.S432N|KIAA1324L_uc011kgz.1_Missense_Mutation_p.S558N|KIAA1324L_uc003uie.2_Missense_Mutation_p.S505N	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	672	Extracellular (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)					AAAGCAGTCACTATAGCAAAC	0.368													T	86541542	C	T	86541542	3	4	27	1	0	0	0	0	1	0	0	0	8224	565	20	4	1106	4	KIAA1324L	7	86541542	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	125903	86541542	72597121	3692	27643											
DMTF1	9988	broad.mit.edu	37	chr7	86802919	86802919	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagtttcagcagttagccaAgcatggtttacaactaaaga	9	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:86802919A>G	uc003uih.2	+	6	722	c.396A>G	c.(394-396)CAA>CAG	p.Q132Q	DMTF1_uc003uii.2_5'UTR|DMTF1_uc003uij.2_5'UTR|DMTF1_uc011khb.1_Silent_p.Q44Q|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Silent_p.Q132Q|DMTF1_uc003uim.1_Silent_p.Q132Q|DMTF1_uc003uin.2_5'UTR	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	132	Required for transcriptional activation (By similarity).|Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)					CAGTTAGCCAAGCATGGTTTA	0.318													G	86802919	A	G	86802919	2	3	27	1	0	0	0	0	0	0	0	1	4592	69	3	3		3	DMTF1	7	86802919	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	261377	86802919	72335744	3693	27644											
DMTF1	9988	broad.mit.edu	37	chr7	86824348	86824348	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacttgaaactcattacagaTcccatactccaacatcatca	2	13	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:86824348T>A	uc003uih.2	+	18	2501	c.2175T>A	c.(2173-2175)GAT>GAA	p.D725E	DMTF1_uc003uii.2_Missense_Mutation_p.D459E|DMTF1_uc003uij.2_Missense_Mutation_p.D459E|DMTF1_uc011khb.1_Missense_Mutation_p.D637E|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.D725E|DMTF1_uc003uin.2_Missense_Mutation_p.D459E	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	725	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)					TCATTACAGATCCCATACTCC	0.353													A	86824348	T	A	86824348	3	1	27	1	0	0	0	0	1	0	0	0	4592	1449	50	5	2237	5	DMTF1	7	86824348	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	21429	86824348	72314315	3694	27645											
ABCB1	5243	broad.mit.edu	37	chr7	87179871	87179871	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctggtttgtgcccactcttCgaatagctgtcaatacttgg	9	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:87179871C>T	uc003uiz.1	-	12	1555	c.1137G>A	c.(1135-1137)TCG>TCA	p.S379S	ABCB1_uc011khc.1_Silent_p.S315S	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	379	Cytoplasmic (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GCCCACTCTTCGAATAGCTGT	0.333													T	87179871	C	T	87179871	2	4	27	1	0	0	0	0	0	0	0	1	40	871	31	1		1	ABCB1	7	87179871	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	355523	87179871	71958792	3695	27646											
RUNDC3B	154661	broad.mit.edu	37	chr7	87258157	87258157	+	Frame_Shift_Del	DEL	G	G	-													gccatggcctcccggagcctGgggggcctgagcgggatccg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:87258157delG	uc003ujb.2	+	1	429	c.18delG	c.(16-18)CTGfs	p.L6fs	ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Frame_Shift_Del_p.L6fs|RUNDC3B_uc011khe.1_Frame_Shift_Del_p.L6fs|RUNDC3B_uc003ujc.2_Frame_Shift_Del_p.L6fs	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	6										skin(1)	1	Esophageal squamous(14;0.00164)					CCCGGAGCCTGGGGGGCCTGA	0.701													-	87258157	G	-	87258157	7	5	27	1	0	1	0	1	0	0	0	0	13745	1335	47	0	20	0	RUNDC3B	7	87258157	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	78286	87258157	71880506	3696	27647											
DBF4	10926	broad.mit.edu	37	chr7	87507464	87507464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaatgtaagccactttgggGaaaagtattttaccttgact	8	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:87507464G>A	uc003ujf.1	+	2	647	c.143G>A	c.(142-144)GGA>GAA	p.G48E	SLC25A40_uc003uje.2_5'Flank|DBF4_uc003ujh.1_5'UTR|DBF4_uc003ujg.1_Intron|DBF4_uc011khf.1_5'UTR	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	48	BRCT 1.				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CCACTTTGGGGAAAAGTATTT	0.383													A	87507464	G	A	87507464	3	1	27	1	0	0	0	0	1	0	0	0	4248	1174	41	4	149	4	DBF4	7	87507464	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	249307	87507464	71631199	3697	27648											
DBF4	10926	broad.mit.edu	37	chr7	87516180	87516180	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttaagcagaggaaaaTtattagttgaaaaagctatc	9	3	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:87516180T>A	uc003ujf.1	+	4	925	c.421T>A	c.(421-423)TTA>ATA	p.L141I	DBF4_uc003ujh.1_5'UTR|DBF4_uc003ujg.1_5'UTR|DBF4_uc011khf.1_5'UTR	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	141					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CAGAGGAAAATTATTAGTTGA	0.294													A	87516180	T	A	87516180	3	1	27	1	0	0	0	0	1	0	0	0	4248	1490	52	5	435	5	DBF4	7	87516180	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	8716	87516180	71622483	3698	27649											
ADAM22	53616	broad.mit.edu	37	chr7	87759706	87759706	+	Frame_Shift_Del	DEL	A	A	-													ttttcttttgctttcagtttAaaaaacatcggctttccgtt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:87759705_87759705TA>T	uc003ujn.3	+	9	971	c.756_756TA>T	c.(754-756)tttfs	p.F252fs	ADAM22_uc003ujj.2_Frame_Shift_Del_p.F252fs|ADAM22_uc003ujk.2_Frame_Shift_Del_p.F252fs|ADAM22_uc003ujl.2_Frame_Shift_Del_p.F252fs|ADAM22_uc003ujm.3_Frame_Shift_Del_p.F252fs|ADAM22_uc003ujo.3_Frame_Shift_Del_p.F252fs|ADAM22_uc003ujp.1_Frame_Shift_Del_p.F304fs	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	252	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GCTTTCAGTTTAAAAAACATC	0.368													-	87759706	A	-	87759706	7	5	27	1	0	1	0	1	0	0	0	0	244	363	13	0	795	0	ADAM22	7	87759706	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	243526	87759706	71378957	3699	27650											
ADAM22	53616	broad.mit.edu	37	chr7	87760680	87760680	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatctgaaaatccattgatcAccctacgtgagtttatgaaa	6	8	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:87760680A>G	uc003ujn.2	+	11	1001	c.922A>G	c.(922-924)ACC>GCC	p.T308A	ADAM22_uc003ujj.1_Missense_Mutation_p.T308A|ADAM22_uc003ujk.1_Missense_Mutation_p.T308A|ADAM22_uc003ujl.1_Missense_Mutation_p.T308A|ADAM22_uc003ujm.2_Missense_Mutation_p.T308A|ADAM22_uc003ujo.2_Missense_Mutation_p.T308A|ADAM22_uc003ujp.1_Missense_Mutation_p.T360A	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	308	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TCCATTGATCACCCTACGTGA	0.368													G	87760680	A	G	87760680	3	3	27	1	0	0	0	0	1	0	0	0	244	159	6	3	964	3	ADAM22	7	87760680	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	974	87760680	71377983	3700	27651											
ADAM22	53616	broad.mit.edu	37	chr7	87780325	87780325	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatattcataaaatggatggAtattcatgtgatggtgttca	9	3	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:87780325A>T	uc003ujn.2	+	19	1675	c.1596A>T	c.(1594-1596)GGA>GGT	p.G532G	ADAM22_uc003ujk.1_Silent_p.G532G|ADAM22_uc003ujl.1_Silent_p.G532G|ADAM22_uc003ujm.2_Silent_p.G532G|ADAM22_uc003ujo.2_Silent_p.G532G|ADAM22_uc003ujp.1_Silent_p.G584G	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	532	Cys-rich.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AAATGGATGGATATTCATGTG	0.343													T	87780325	A	T	87780325	2	4	27	1	0	0	0	0	0	0	0	1	244	320	12	5		5	ADAM22	7	87780325	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	19645	87780325	71358338	3701	27652											
STEAP4	79689	broad.mit.edu	37	chr7	87912203	87912203	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taagtgctgttattggaaagAtacgatttggaatggaaata	11	2	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:87912203A>G	uc003ujs.2	-	3	842	c.737T>C	c.(736-738)ATC>ACC	p.I246T	STEAP4_uc010lek.2_Intron|STEAP4_uc003ujt.2_Missense_Mutation_p.I246T	NM_024636	NP_078912	Q687X5	STEA4_HUMAN	tumor necrosis factor, alpha-induced protein 9	246	Helical; (Potential).				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	Esophageal squamous(14;0.00802)					TATTGGAAAGATACGATTTGG	0.368													G	87912203	A	G	87912203	3	3	27	1	0	0	0	0	1	0	0	0	15279	333	12	3	654	3	STEAP4	7	87912203	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	131878	87912203	71226460	3702	27653											
MGC26647	219557	broad.mit.edu	37	chr7	88424168	88424168	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcttcttgaaagtgcaggTaattgctacgtgggacttgg	12	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:88424168T>C	uc003ujv.2	-	2	271	c.89A>G	c.(88-90)TAC>TGC	p.Y30C	ZNF804B_uc011khi.1_Intron	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	hypothetical protein LOC219557	30											0	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		STAD - Stomach adenocarcinoma(171;0.229)			AAAGTGCAGGTAATTGCTACG	0.418													C	88424168	T	C	88424168	3	2	27	1	0	0	0	0	1	0	0	0	9550	1638	57	3	676	3	MGC26647	7	88424168	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	511965	88424168	70714495	3703	27654											
ZNF804B	219578	broad.mit.edu	37	chr7	88847605	88847605	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttatgaccatgctcataAgcaggtaaggcaaagtggga	11	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:88847605A>C	uc011khi.1	+	2	783	c.245A>C	c.(244-246)AAG>ACG	p.K82T		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	82						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CATGCTCATAAGCAGGTAAGG	0.353										HNSCC(36;0.09)			C	88847605	A	C	88847605	3	2	27	1	0	0	0	0	1	0	0	0	18168	72	3	5	251	5	ZNF804B	7	88847605	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	423437	88847605	70291058	3704	27655											
STEAP2	261729	broad.mit.edu	37	chr7	89854552	89854552	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accattcgacttattagatgCggctatcatgtggtcatagg	10	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:89854552C>T	uc003ujz.2	+	2	549	c.156C>T	c.(154-156)TGC>TGT	p.C52C	STEAP2_uc003ujy.2_Silent_p.C94C|STEAP2_uc010len.2_Silent_p.C52C|STEAP2_uc003uka.2_Silent_p.C52C|STEAP2_uc003ukb.2_Silent_p.C52C|STEAP2_uc003ukc.2_Silent_p.C52C|STEAP2_uc003ukd.2_Silent_p.C52C	NM_152999	NP_694544	Q8NFT2	STEA2_HUMAN	six transmembrane epithelial antigen of the	52					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			ovary(2)	2	all_hematologic(106;0.112)					TTATTAGATGCGGCTATCATG	0.393													T	89854552	C	T	89854552	2	4	27	1	0	0	0	0	0	0	0	1	15277	776	27	1		1	STEAP2	7	89854552	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1006947	89854552	69284111	3705	27656											
STEAP2	261729	broad.mit.edu	37	chr7	89856621	89856621	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatacctcgcaggtcttctgGcagctgcttatcaactttat	7	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:89856621G>T	uc003ujz.2	+	3	1222	c.829G>T	c.(829-831)GCA>TCA	p.A277S	STEAP2_uc003ujy.2_Missense_Mutation_p.A319S|STEAP2_uc010len.2_Missense_Mutation_p.A277S|STEAP2_uc003uka.2_Missense_Mutation_p.A277S|STEAP2_uc003ukb.2_Missense_Mutation_p.A277S|STEAP2_uc003ukc.2_Missense_Mutation_p.A277S|STEAP2_uc003ukd.2_Missense_Mutation_p.A277S	NM_152999	NP_694544	Q8NFT2	STEA2_HUMAN	six transmembrane epithelial antigen of the	277	Ferric oxidoreductase.|Helical; (Potential).				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			ovary(2)	2	all_hematologic(106;0.112)					AGGTCTTCTGGCAGCTGCTTA	0.393													T	89856621	G	T	89856621	3	4	27	1	0	0	0	0	1	0	0	0	15277	1203	42	5	835	5	STEAP2	7	89856621	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2069	89856621	69282042	3706	27657											
GTPBP10	85865	broad.mit.edu	37	chr7	90014459	90014459	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttactacttccaaaatggaTataatttaaatatattaaaa	3	4	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:90014459T>C	uc003ukm.1	+	10	1221	c.1155T>C	c.(1153-1155)GAT>GAC	p.D385D	GTPBP10_uc003ukn.1_Silent_p.D306D|GTPBP10_uc003uko.1_Silent_p.D195D|CLDN12_uc003ukp.2_5'UTR|CLDN12_uc003ukq.2_5'UTR	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 isoform 2	385					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding				0						CCAAAATGGatataatttaaa	0.199													C	90014459	T	C	90014459	2	2	27	1	0	0	0	0	0	0	0	1	6879	1403	49	3		3	GTPBP10	7	90014459	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	157838	90014459	69124204	3707	27658											
CDK14	5218	broad.mit.edu	37	chr7	90356055	90356055	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcattctgagaacaatgctTgcattaactttaagacctcc	6	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:90356055T>C	uc003uky.2	+	3	520	c.298T>C	c.(298-300)TGC>CGC	p.C100R	CDK14_uc003ukt.1_Missense_Mutation_p.C54R|CDK14_uc003ukv.1_Missense_Mutation_p.C54R|CDK14_uc003uku.1_Missense_Mutation_p.C54R|CDK14_uc003ukx.1_Intron|CDK14_uc003ukz.1_Missense_Mutation_p.C82R|CDK14_uc010les.1_Missense_Mutation_p.C54R|CDK14_uc011khl.1_Silent_p.L2L	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	100					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4						GAACAATGCTTGCATTAACTT	0.448													C	90356055	T	C	90356055	3	2	27	1	0	0	0	0	1	0	0	0	3130	1812	63	3	250	3	CDK14	7	90356055	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	341596	90356055	68782608	3708	27659											
FZD1	8321	broad.mit.edu	37	chr7	90895161	90895161	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcgcttctcgcgcacctgGattggcatttggtcagtgct	12	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:90895161G>A	uc003ula.2	+	1	1379	c.966G>A	c.(964-966)TGG>TGA	p.W322*		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	322	Extracellular (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CGCGCACCTGGATTGGCATTT	0.627													A	90895161	G	A	90895161	4	1	27	1	0	0	0	0	0	1	0	0	6128	1183	41	4	968	4	FZD1	7	90895161	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	539106	90895161	68243502	3709	27660											
FZD1	8321	broad.mit.edu	37	chr7	90895558	90895558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggccgcctgggctgtgCcggccatcaagaccatcacc	11	17	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:90895558C>T	uc003ula.2	+	1	1776	c.1363C>T	c.(1363-1365)CCG>TCG	p.P455S		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	455	Helical; Name=4; (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTGGGCTGTGCCGGCCATCAA	0.637													T	90895558	C	T	90895558	3	4	27	1	0	0	0	0	1	0	0	0	6128	739	26	2	1365	2	FZD1	7	90895558	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	397	90895558	68243105	3710	27661											
MTERF	7978	broad.mit.edu	37	chr7	91503256	91503256	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctggcatagtcattggaAaggtctaggatttcagctcc	10	9	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:91503256A>G	uc003ulb.1	-	2	896	c.852T>C	c.(850-852)CTT>CTC	p.L284L	MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Silent_p.L284L|MTERF_uc011khm.1_Silent_p.L264L|MTERF_uc010leu.1_Silent_p.L264L	NM_006980	NP_008911	Q99551	MTERF_HUMAN	mitochondrial transcription termination factor	284					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding				0	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			AGTCATTGGAAAGGTCTAGGA	0.413													G	91503256	A	G	91503256	2	3	27	1	0	0	0	0	0	0	0	1	9918	1	1	3		3	MTERF	7	91503256	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	607698	91503256	67635407	3711	27662											
AKAP9	10142	broad.mit.edu	37	chr7	91708815	91708815	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtgttaacgtggctatagaTcatctgagcaaagacaaacc	9	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:91708815T>A	uc003ulg.2	+	31	7593	c.7368T>A	c.(7366-7368)GAT>GAA	p.D2456E	AKAP9_uc003ulf.2_Missense_Mutation_p.D2448E|AKAP9_uc003uli.2_Missense_Mutation_p.D2079E|AKAP9_uc003ulj.2_Missense_Mutation_p.D226E	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2468	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGGCTATAGATCATCTGAGCA	0.363			T	BRAF	papillary thyroid								A	91708815	T	A	91708815	3	1	27	1	0	0	0	0	1	0	0	0	459	1432	50	5	7490	5	AKAP9	7	91708815	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	205559	91708815	67429848	3712	27663											
ANKIB1	54467	broad.mit.edu	37	chr7	92020590	92020590	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttgtacagcagaagagGcaagaattcctggcatctgt	11	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:92020590G>A	uc003ulw.2	+	16	2539	c.2163G>A	c.(2161-2163)AGG>AGA	p.R721R	ANKIB1_uc010lew.1_Missense_Mutation_p.A8T	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	721							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGCAGAAGAGGCAAGAATTCC	0.517													A	92020590	G	A	92020590	2	1	27	1	0	0	0	0	0	0	0	1	630	1194	42	2		2	ANKIB1	7	92020590	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	311775	92020590	67118073	3713	27664											
ANKIB1	54467	broad.mit.edu	37	chr7	92027890	92027890	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccaggaccccaacatcaAtgacaatcttctcggcaaca	7	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:92027890A>G	uc003ulw.2	+	20	3273	c.2897A>G	c.(2896-2898)AAT>AGT	p.N966S	ANKIB1_uc010lew.1_Missense_Mutation_p.N235S	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	966							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCCAACATCAATGACAATCTT	0.493													G	92027890	A	G	92027890	3	3	27	1	0	0	0	0	1	0	0	0	630	101	4	3	2971	3	ANKIB1	7	92027890	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	7300	92027890	67110773	3714	27665											
PEX1	5189	broad.mit.edu	37	chr7	92129140	92129140	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtatgggcaagtttgcaaAtaattctggatactgagaaa	10	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:92129140A>C	uc003uly.2	-	16	2692	c.2596T>G	c.(2596-2598)TTT>GTT	p.F866V	PEX1_uc011khr.1_Missense_Mutation_p.F658V|PEX1_uc010ley.2_Missense_Mutation_p.F809V|PEX1_uc011khs.1_Missense_Mutation_p.F544V|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	866					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AAGTTTGCAAATAATTCTGGA	0.363													C	92129140	A	C	92129140	3	2	27	1	0	0	0	0	1	0	0	0	11735	101	4	5	1291	5	PEX1	7	92129140	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	101250	92129140	67009523	3715	27666											
CDK6	1021	broad.mit.edu	37	chr7	92247520	92247520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcctgggagtccaatcaCgctacaaaagaaccacacat	6	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:92247520C>T	uc011khw.1	-	7	1112	c.700G>A	c.(700-702)GTG>ATG	p.V234M	CDK6_uc010lez.2_Missense_Mutation_p.V234M	NM_001259	NP_001250	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	234	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|skin(1)	2	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AGTCCAATCACGCTACAAAAG	0.443			T	MLLT10	ALL								T	92247520	C	T	92247520	3	4	27	1	0	0	0	0	1	0	0	0	3148	550	19	1	288	1	CDK6	7	92247520	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	118380	92247520	66891143	3716	27667											
CDK6	1021	broad.mit.edu	37	chr7	92404119	92404119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttggtttctctgtctgttCgtgacactgtgcacacatca	9	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:92404119C>T	uc011khw.1	-	3	672	c.260G>A	c.(259-261)CGA>CAA	p.R87Q	CDK6_uc010lez.2_Missense_Mutation_p.R87Q	NM_001259	NP_001250	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	87	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|skin(1)	2	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGTCTGTTCGTGACACTGT	0.398			T	MLLT10	ALL								T	92404119	C	T	92404119	3	4	27	1	0	0	0	0	1	0	0	0	3148	884	31	1	744	1	CDK6	7	92404119	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	156599	92404119	66734544	3717	27668											
SAMD9	54809	broad.mit.edu	37	chr7	92734465	92734465	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaataatcatattggcAttcagagaactgtggaataa	9	5	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:92734465A>T	uc003umf.2	-	3	1202	c.946T>A	c.(946-948)TGC>AGC	p.C316S	SAMD9_uc003umg.2_Missense_Mutation_p.C316S	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	316						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCATATTGGCATTCAGAGAAC	0.353													T	92734465	A	T	92734465	3	4	27	1	0	0	0	0	1	0	0	0	13826	217	8	5	3827	5	SAMD9	7	92734465	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	330346	92734465	66404198	3718	27669											
SAMD9	54809	broad.mit.edu	37	chr7	92735292	92735292	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagactgctccattcacgTcttgttcagtcaaaatttcc	5	12	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:92735292T>C	uc003umf.2	-	3	375	c.119A>G	c.(118-120)GAC>GGC	p.D40G	SAMD9_uc003umg.2_Missense_Mutation_p.D40G	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	40	SAM.					cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCCATTCACGTCTTGTTCAGT	0.358													C	92735292	T	C	92735292	3	2	27	1	0	0	0	0	1	0	0	0	13826	1667	58	3	4654	3	SAMD9	7	92735292	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	827	92735292	66403371	3719	27670											
SAMD9L	219285	broad.mit.edu	37	chr7	92760589	92760589	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaatcctaggtagaaagAcactctttctatgttcctac	7	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:92760589A>G	uc003umh.1	-	5	5912	c.4696T>C	c.(4696-4698)TCT>CCT	p.S1566P	SAMD9L_uc003umj.1_Missense_Mutation_p.S1566P|SAMD9L_uc003umi.1_Missense_Mutation_p.S1566P|SAMD9L_uc010lfb.1_Missense_Mutation_p.S1566P|SAMD9L_uc003umk.1_Missense_Mutation_p.S1566P|SAMD9L_uc010lfc.1_Missense_Mutation_p.S1566P|SAMD9L_uc010lfd.1_Missense_Mutation_p.S1566P|SAMD9L_uc011khx.1_3'UTR	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1566										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGGTAGAAAGACACTCTTTCT	0.338													G	92760589	A	G	92760589	3	3	27	1	0	0	0	0	1	0	0	0	13827	275	10	3	62	3	SAMD9L	7	92760589	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	25297	92760589	66378074	3720	27671											
GNGT1	2792	broad.mit.edu	37	chr7	93540172	93540172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggatccactggtaaaggGcatcccagaggacaaaaatc	11	10	0	1	rs138254553		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:93540172G>A	uc003unc.1	+	3	315	c.167G>A	c.(166-168)GGC>GAC	p.G56D	GNGT1_uc003umx.1_RNA	NM_021955	NP_068774	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein),	56					G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity				0	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CTGGTAAAGGGCATCCCAGAG	0.383													A	93540172	G	A	93540172	3	1	27	1	0	0	0	0	1	0	0	0	6533	1203	42	2	173	2	GNGT1	7	93540172	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	779583	93540172	65598491	3721	27672											
COL1A2	1278	broad.mit.edu	37	chr7	94057608	94057608	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttattttcttaaaaggttActactggattgaccctaacc	6	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:94057608A>G	uc003ung.1	+	50	4001	c.3530A>G	c.(3529-3531)TAC>TGC	p.Y1177C	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1177	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTAAAAGGTTACTACTGGATT	0.373										HNSCC(75;0.22)			G	94057608	A	G	94057608	3	3	27	1	0	0	0	0	1	0	0	0	3678	391	14	3	3728	3	COL1A2	7	94057608	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	517436	94057608	65081055	3722	27673											
CASD1	64921	broad.mit.edu	37	chr7	94146970	94146970	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcataaatacaaaatcaggTaacatttcttcattttgttg	5	6	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:94146970T>C	uc003uni.3	+	2	457	c.230_splice	c.e2+2	p.S77_splice	CASD1_uc003unh.2_Splice_Site_p.S77_splice|CASD1_uc003unj.3_Splice_Site_p.S77_splice	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor							integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CAAAATCAGGTAACATTTCTT	0.383													C	94146970	T	C	94146970	5	2	27	1	0	0	0	0	0	0	1	0	2664	1652	57	3	238	3	CASD1	7	94146970	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	89362	94146970	64991693	3723	27674											
PPP1R9A	55607	broad.mit.edu	37	chr7	94879417	94879417	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacatagaagagaataaggAaagaatgttgaagttggaaa	11	1	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:94879417A>G	uc003unp.2	+	9	2462	c.2180A>G	c.(2179-2181)GAA>GGA	p.E727G	PPP1R9A_uc010lfj.2_Missense_Mutation_p.E749G|PPP1R9A_uc011kif.1_Missense_Mutation_p.E727G|PPP1R9A_uc003unq.2_Missense_Mutation_p.E727G|PPP1R9A_uc011kig.1_Missense_Mutation_p.E727G	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	727	Interacts with TGN38 (By similarity).|Potential.					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GAGAATAAGGAAAGAATGTTG	0.433										HNSCC(28;0.073)			G	94879417	A	G	94879417	3	3	27	1	0	0	0	0	1	0	0	0	12378	246	9	3	2280	3	PPP1R9A	7	94879417	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	732447	94879417	64259246	3724	27675											
PON1	5444	broad.mit.edu	37	chr7	94944662	94944662	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatgtgctaatcccatgAgggttaaatgaagatacatc	10	6	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:94944662A>C	uc003uns.2	-	4	439	c.342T>G	c.(340-342)CCT>CCG	p.P114P	PON1_uc011kih.1_Silent_p.P114P	NM_000446	NP_000437	P27169	PON1_HUMAN	paraoxonase 1 precursor	114					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			pancreas(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TAATCCCATGAGGGTTAAATG	0.333													C	94944662	A	C	94944662	2	2	27	1	0	0	0	0	0	0	0	1	12248	291	11	5		5	PON1	7	94944662	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	65245	94944662	64194001	3725	27676											
PON1	5444	broad.mit.edu	37	chr7	95025597	95025597	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatgccactcacctaaacgcCaggaacatctccccgactaa	6	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:95025597C>G	uc011kih.1	-	1	91	c.66G>C	c.(64-66)CTG>CTC	p.L22L	PON3_uc003unt.2_Silent_p.L22L|PON3_uc011kii.1_Silent_p.L22L			P27169	PON1_HUMAN	SubName: Full=cDNA FLJ57644, highly similar to Serum paraoxonase/arylesterase 1 (EC 3.1.1.2);	22					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			pancreas(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	ACCTAAACGCCAGGAACATCT	0.657													G	95025597	C	G	95025597	2	3	27	1	0	0	0	0	0	0	0	1	12248	581	21	5		5	PON1	7	95025597	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	80935	95025597	64113066	3726	27677											
SLC25A13	10165	broad.mit.edu	37	chr7	95813609	95813609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctatacagtccaaagaagCcttcatagcgtagcactttc	6	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:95813609C>T	uc003uof.3	-	11	1348	c.1157G>A	c.(1156-1158)GGC>GAC	p.G386D	SLC25A13_uc003uog.3_Missense_Mutation_p.G387D|SLC25A13_uc011kik.1_Missense_Mutation_p.G278D	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	386	Solcar 1.				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TCCAAAGAAGCCTTCATAGCG	0.398													T	95813609	C	T	95813609	3	4	27	1	0	0	0	0	1	0	0	0	14475	739	26	2	902	2	SLC25A13	7	95813609	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	788012	95813609	63325054	3727	27678											
SLC25A13	10165	broad.mit.edu	37	chr7	95814285	95814285	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaggccgactctgcaacTtgtagaagaactggtcgagc	12	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:95814285T>C	uc003uof.3	-	10	1163	c.972A>G	c.(970-972)CAA>CAG	p.Q324Q	SLC25A13_uc003uog.3_Silent_p.Q325Q|SLC25A13_uc011kik.1_Silent_p.Q216Q	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	324					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	ACTCTGCAACTTGTAGAAGAA	0.433													C	95814285	T	C	95814285	2	2	27	1	0	0	0	0	0	0	0	1	14475	1606	56	3		3	SLC25A13	7	95814285	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	676	95814285	63324378	3728	27679											
DLX6	1750	broad.mit.edu	37	chr7	96639170	96639170	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgaagcagggcagtaaTcctcatgagagcgaccccct	11	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:96639170T>A	uc003uom.2	+	4	609	c.609T>A	c.(607-609)AAT>AAA	p.N203K	DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	distal-less homeobox 6	113					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					AGGGCAGTAATCCTCATGAGA	0.552													A	96639170	T	A	96639170	3	1	27	1	0	0	0	0	1	0	0	0	4575	1432	50	5	703	5	DLX6	7	96639170	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	824885	96639170	62499493	3729	27680											
DLX5	1749	broad.mit.edu	37	chr7	96653778	96653778	+	Frame_Shift_Del	DEL	C	C	-													agcagtagccgtgcggggctCcccccgtagggctgtagtag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:96653777_96653777TC>T	uc003uon.3	-	0	367	c.159_159GA>A	c.(157-159)ggafs	p.G53fs	DLX5_uc011kim.1_Frame_Shift_Del_p.G53fs	NM_005221	NP_005212	P56178	DLX5_HUMAN	Homo sapiens distal-less homeobox 5 (DLX5), mRNA.	53					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CGTGCGGGGCTCCCCCCGTAG	0.597													-	96653778	C	-	96653778	7	5	27	1	0	1	0	1	0	0	0	0	4574	855	30	0	723	0	DLX5	7	96653778	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	14608	96653778	62484885	3730	27681											
ASNS	440	broad.mit.edu	37	chr7	97498452	97498452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcatcactgccaaacagcGcccaaatgccacacatggtg	7	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:97498452G>A	uc003uot.3	-	3	523	c.17C>T	c.(16-18)GCG>GTG	p.A6V	ASNS_uc011kin.1_Intron|ASNS_uc003uou.3_Missense_Mutation_p.A6V|ASNS_uc003uov.3_Missense_Mutation_p.A6V|ASNS_uc011kio.1_Intron|ASNS_uc003uow.3_Intron|ASNS_uc003uox.3_Intron	NM_133436	NP_597680	P08243	ASNS_HUMAN	asparagine synthetase	6	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCCAAACAGCGCCCAAATGCC	0.408													A	97498452	G	A	97498452	3	1	27	1	0	0	0	0	1	0	0	0	1048	1087	38	1	1712	1	ASNS	7	97498452	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	844674	97498452	61640211	3731	27682											
LMTK2	22853	broad.mit.edu	37	chr7	97766717	97766717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatagtgttaattgcaaactGtgtatcctgctgtaaggacc	9	7	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:97766717G>A	uc003upd.1	+	2	487	c.194G>A	c.(193-195)TGT>TAT	p.C65Y		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	65					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ATTGCAAACTGTGTATCCTGC	0.398													A	97766717	G	A	97766717	3	1	27	1	0	0	0	0	1	0	0	0	8859	1377	48	4	200	4	LMTK2	7	97766717	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	268265	97766717	61371946	3732	27683											
LMTK2	22853	broad.mit.edu	37	chr7	97823866	97823866	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtttttcgatgatgtcacAgtctacctgtttgaccaggt	9	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:97823866A>G	uc003upd.1	+	11	4382	c.4089A>G	c.(4087-4089)ACA>ACG	p.T1363T		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	1363					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ATGATGTCACAGTCTACCTGT	0.473													G	97823866	A	G	97823866	2	3	27	1	0	0	0	0	0	0	0	1	8859	175	7	3		3	LMTK2	7	97823866	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	57149	97823866	61314797	3733	27684											
TECPR1	25851	broad.mit.edu	37	chr7	97860361	97860361	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccttgcaggtgatggaccAgatggcctgcggggacgggc	17	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:97860361A>G	uc003upg.2	-	15	2399	c.2194T>C	c.(2194-2196)TGG>CGG	p.W732R	TECPR1_uc003uph.1_Missense_Mutation_p.W662R	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	732	TECPR 5.					integral to membrane	protein binding			pancreas(1)	1						GTGATGGACCAGATGGCCTGC	0.677													G	97860361	A	G	97860361	3	3	27	1	0	0	0	0	1	0	0	0	15740	188	7	3	1351	3	TECPR1	7	97860361	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	36495	97860361	61278302	3734	27685											
TRRAP	8295	broad.mit.edu	37	chr7	98513399	98513399	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagctcgcgcagactgccaaGgaaccctacaactacttctt	8	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:98513399G>T	uc003upp.2	+	19	2462	c.2253G>T	c.(2251-2253)AAG>AAT	p.K751N	TRRAP_uc011kis.1_Missense_Mutation_p.K751N|TRRAP_uc003upr.2_Missense_Mutation_p.K443N	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	751					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGACTGCCAAGGAACCCTACA	0.527													T	98513399	G	T	98513399	3	4	27	1	0	0	0	0	1	0	0	0	16598	991	35	5	2323	5	TRRAP	7	98513399	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	653038	98513399	60625264	3735	27686											
TRRAP	8295	broad.mit.edu	37	chr7	98533266	98533266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgttataaaagccttcCgtcactcgtacctttacgaa	6	13	1	0	rs139426093		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:98533266C>T	uc003upp.2	+	28	4288	c.4079C>T	c.(4078-4080)CCG>CTG	p.P1360L	TRRAP_uc011kis.1_Missense_Mutation_p.P1360L|TRRAP_uc003upr.2_Missense_Mutation_p.P1052L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1360					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAAAGCCTTCCGTCACTCGTA	0.388													T	98533266	C	T	98533266	3	4	27	1	0	0	0	0	1	0	0	0	16598	652	23	1	4185	1	TRRAP	7	98533266	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	19867	98533266	60605397	3736	27687											
TRRAP	8295	broad.mit.edu	37	chr7	98535356	98535356	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgggagattaccggagCttgacgctgaatgttgtgaa	14	6	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:98535356C>T	uc003upp.2	+	30	4526	c.4317C>T	c.(4315-4317)AGC>AGT	p.S1439S	TRRAP_uc011kis.1_Silent_p.S1439S|TRRAP_uc003upr.2_Silent_p.S1131S	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1439					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATTACCGGAGCTTGACGCTGA	0.418													T	98535356	C	T	98535356	2	4	27	1	0	0	0	0	0	0	0	1	16598	796	28	2		2	TRRAP	7	98535356	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2090	98535356	60603307	3737	27688											
SMURF1	57154	broad.mit.edu	37	chr7	98655120	98655120	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccagctccctgtttcttgtgAattttcttatggttccacac	6	12	2	1	rs150079661		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:98655120A>T	uc003upu.1	-	4	578	c.258T>A	c.(256-258)ATT>ATA	p.I86I	SMURF1_uc003upv.1_Silent_p.I86I|SMURF1_uc003upt.2_Silent_p.I86I	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	86	C2.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GTTTCTTGTGAATTTTCTTAT	0.413													T	98655120	A	T	98655120	2	4	27	1	0	0	0	0	0	0	0	1	14819	242	9	5		5	SMURF1	7	98655120	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	119764	98655120	60483543	3738	27689											
PDAP1	11333	broad.mit.edu	37	chr7	99002518	99002518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcagcctgcagctgcgcGtcgatctcctcagggcttgt	11	14	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:99002518G>A	uc003uqe.2	-	2	193	c.72C>T	c.(70-72)GAC>GAT	p.D24D		NM_014891	NP_055706	Q13442	HAP28_HUMAN	PDGFA associated protein 1	24					cell proliferation|signal transduction						0	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	GCAGCTGCGCGTCGATCTCCT	0.607													A	99002518	G	A	99002518	2	1	27	1	0	0	0	0	0	0	0	1	11613	1136	40	1		1	PDAP1	7	99002518	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	347398	99002518	60136145	3739	27690											
PTCD1	26024	broad.mit.edu	37	chr7	99022974	99022974	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctggaggcccaagtgccTgagaaggttccagaaacagc	13	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:99022974T>C	uc003uqh.2	-	6	1312	c.1181A>G	c.(1180-1182)CAG>CGG	p.Q394R	PTCD1_uc011kiw.1_Missense_Mutation_p.Q443R	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	394										ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CCCAAGTGCCTGAGAAGGTTC	0.637													C	99022974	T	C	99022974	3	2	27	1	0	0	0	0	1	0	0	0	12727	1580	55	3	933	3	PTCD1	7	99022974	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	20456	99022974	60115689	3740	27691											
ZNF789	285989	broad.mit.edu	37	chr7	99084466	99084466	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgtggaaaagtcattagGcgtaaggcatggtttgatca	13	4	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:99084466G>A	uc003uqq.1	+	5	852	c.633G>A	c.(631-633)AGG>AGA	p.R211R	ZNF789_uc010lfw.1_Silent_p.R116R|ZNF789_uc003uqr.1_Silent_p.R153R	NM_213603	NP_998768	Q5FWF6	ZN789_HUMAN	zinc finger protein 789 isoform 1	211	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGTCATTAGGCGTAAGGCAT	0.418													A	99084466	G	A	99084466	2	1	27	1	0	0	0	0	0	0	0	1	18157	1194	42	2		2	ZNF789	7	99084466	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	61492	99084466	60054197	3741	27692											
ZNF394	84124	broad.mit.edu	37	chr7	99092051	99092051	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctgagatgctgttgagtcCttctgcttcaggagaatttt	10	7	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:99092051C>A	uc003uqs.2	-	3	948	c.787G>T	c.(787-789)GGA>TGA	p.G263*	ZNF394_uc003uqt.2_Nonsense_Mutation_p.G56*	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	zinc finger protein 394	263					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTGTTGAGTCCTTCTGCTTCA	0.468													A	99092051	C	A	99092051	4	1	27	1	0	0	0	0	0	1	0	0	17877	690	24	5	902	5	ZNF394	7	99092051	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	7585	99092051	60046612	3742	27693											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99103706	99103706	+	Frame_Shift_Del	DEL	C	C	-													cgagaagttatagacttagaCcccccagctgagacttccca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:99103705_99103705AC>A	uc003uqv.3	+	1	162	c.38_38AC>A	c.(37-39)gacfs	p.D13fs	ZKSCAN5_uc010lfx.3_Frame_Shift_Del_p.D13fs|ZKSCAN5_uc003uqw.3_Frame_Shift_Del_p.D13fs|ZKSCAN5_uc003uqx.3_Frame_Shift_Del_p.D13fs|ZKSCAN5_uc003uqy.3_5'UTR	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	13					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ATAGACTTAGACCCCCCAGCT	0.483													-	99103706	C	-	99103706	7	5	27	1	0	1	0	1	0	0	0	0	17687	506	18	0	41	0	ZKSCAN5	7	99103706	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	11655	99103706	60034957	3743	27694											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99123562	99123562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagactttgcagaagtcaGtgaccttaaaggcatggtac	10	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:99123562G>A	uc003uqv.2	+	6	1023	c.899G>A	c.(898-900)AGT>AAT	p.S300N	ZKSCAN5_uc010lfx.2_Missense_Mutation_p.S300N|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.S300N|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.S227N|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.S36N	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	300					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCAGAAGTCAGTGACCTTAAA	0.502													A	99123562	G	A	99123562	3	1	27	1	0	0	0	0	1	0	0	0	17687	1029	36	4	917	4	ZKSCAN5	7	99123562	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	19856	99123562	60015101	3744	27695											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99129621	99129621	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagagaaaatgttggccagTgttcccacaccaaacaacat	8	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:99129621T>C	uc003uqv.2	+	7	2393	c.2269T>C	c.(2269-2271)TGT>CGT	p.C757R	ZKSCAN5_uc010lfx.2_Missense_Mutation_p.C757R|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.C757R|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.C684R|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.C493R	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	757	C2H2-type 11; atypical.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGTTGGCCAGTGTTCCCACAC	0.403													C	99129621	T	C	99129621	3	2	27	1	0	0	0	0	1	0	0	0	17687	1696	59	3	2291	3	ZKSCAN5	7	99129621	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	6059	99129621	60009042	3745	27696											
ZNF498	221785	broad.mit.edu	37	chr7	99227533	99227533	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgacaccagagaatccatAcaggggagaagccctaccac	9	14	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:99227533A>G	uc003url.1	+	8	1852	c.1525A>G	c.(1525-1527)ACA>GCA	p.T509A	ZNF498_uc003urm.1_Missense_Mutation_p.T345A|ZNF498_uc010lge.1_Missense_Mutation_p.T345A|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Missense_Mutation_p.T437A|ZNF498_uc003uro.1_Missense_Mutation_p.T293A	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	509					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GAGAATCCATACAGGGGAGAA	0.642													G	99227533	A	G	99227533	3	3	27	1	0	0	0	0	1	0	0	0	17944	391	14	3	1543	3	ZNF498	7	99227533	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	97912	99227533	59911130	3746	27697											
CYP3A4	1576	broad.mit.edu	37	chr7	99366086	99366086	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgatgttcactccaaatgaTgtgctagtgatcacatccat	7	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:99366086T>C	uc003urv.1	-	7	665	c.561A>G	c.(559-561)ACA>ACG	p.T187T	CYP3A4_uc003urw.1_Silent_p.T187T|CYP3A4_uc011kiz.1_Silent_p.T146T|CYP3A4_uc011kja.1_Silent_p.T138T|CYP3A4_uc011kjb.1_Silent_p.T37T	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A,	187				T -> S (in Ref. 1; BAA00001/AAA35742).	alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			central_nervous_system(3)|ovary(1)	4	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	CTCCAAATGATGTGCTAGTGA	0.413													C	99366086	T	C	99366086	2	2	27	1	0	0	0	0	0	0	0	1	4178	1451	51	3		3	CYP3A4	7	99366086	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	138553	99366086	59772577	3747	27698											
TRIM4	89122	broad.mit.edu	37	chr7	99490087	99490087	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgatcagtaattcccatgAcgtcctcccgacacacccca	5	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:99490087A>C	uc003usd.2	-	7	1332	c.1202T>G	c.(1201-1203)GTC>GGC	p.V401G	TRIM4_uc003use.2_Missense_Mutation_p.V375G|TRIM4_uc011kjc.1_Missense_Mutation_p.V231G	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	tripartite motif protein TRIM4 isoform alpha	401	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding			ovary(1)|kidney(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				AATTCCCATGACGTCCTCCCG	0.493													C	99490087	A	C	99490087	3	2	27	1	0	0	0	0	1	0	0	0	16511	275	10	5	304	5	TRIM4	7	99490087	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	124001	99490087	59648576	3748	27699											
GJC3	349149	broad.mit.edu	37	chr7	99526644	99526644	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtaaacaagagacagaaAccgctgactccaaacatggt	8	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:99526644A>C	uc011kjd.1	-	1	600	c.600T>G	c.(598-600)GGT>GGG	p.G200G		NM_181538	NP_853516	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	200	Helical; (Potential).					connexon complex|integral to membrane				ovary(1)	1	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AGAGACAGAAACCGCTGACTC	0.468													C	99526644	A	C	99526644	2	2	27	1	0	0	0	0	0	0	0	1	6416	30	2	5		5	GJC3	7	99526644	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	36557	99526644	59612019	3749	27700											
ZKSCAN1	7586	broad.mit.edu	37	chr7	99631365	99631365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtagtgagtgtgggaaaGccttcagtcttaactccaac	10	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:99631365G>A	uc003usk.1	+	6	1456	c.1237G>A	c.(1237-1239)GCC>ACC	p.A413T	ZKSCAN1_uc003usl.1_Missense_Mutation_p.A377T|ZKSCAN1_uc003usm.1_Missense_Mutation_p.A200T	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	zinc finger protein 36	413	C2H2-type 2.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GTGTGGGAAAGCCTTCAGTCT	0.458													A	99631365	G	A	99631365	3	1	27	1	0	0	0	0	1	0	0	0	17683	971	34	2	1255	2	ZKSCAN1	7	99631365	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	104721	99631365	59507298	3750	27701											
AP4M1	9179	broad.mit.edu	37	chr7	99703151	99703151	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctctgtgcagtgggaccgAggctcaggccggtgagacaa	15	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:99703151A>G	uc003utb.3	+	11	1126	c.918A>G	c.(916-918)CGA>CGG	p.R306R	AP4M1_uc011kjg.1_Silent_p.R260R|AP4M1_uc010lgl.1_Silent_p.R281R|AP4M1_uc003utc.3_Silent_p.R313R|AP4M1_uc010lgm.2_Silent_p.R178R|AP4M1_uc003utd.2_Silent_p.R306R|AP4M1_uc011kjh.1_Silent_p.R258R|AP4M1_uc003ute.3_Silent_p.R81R|AP4M1_uc003utf.3_Silent_p.R178R	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	306	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTGGGACCGAGGCTCAGGCC	0.587													G	99703151	A	G	99703151	2	3	27	1	0	0	0	0	0	0	0	1	753	291	11	3		3	AP4M1	7	99703151	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	71786	99703151	59435512	3751	27702											
TAF6	6878	broad.mit.edu	37	chr7	99710518	99710518	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggggttctgtggcttcAgccttctgttgctctttggg	13	9	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:99710518A>G	uc003uti.2	-	6	558	c.477T>C	c.(475-477)GCT>GCC	p.A159A	TAF6_uc003utg.2_Silent_p.A81A|TAF6_uc003uth.2_Silent_p.A216A|TAF6_uc003utk.2_Silent_p.A159A|TAF6_uc011kji.1_Silent_p.A196A|TAF6_uc003utj.2_Silent_p.A149A|TAF6_uc003utl.2_Silent_p.A159A|TAF6_uc003utm.2_Silent_p.A159A|TAF6_uc003utn.1_RNA	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	159					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGTGGCTTCAGCCTTCTGTT	0.547													G	99710518	A	G	99710518	2	3	27	1	0	0	0	0	0	0	0	1	15527	175	7	3		3	TAF6	7	99710518	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	7367	99710518	59428145	3752	27703											
C7orf43	55262	broad.mit.edu	37	chr7	99754477	99754477	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttatgctcacctccttggcCcctggagggggctgctcacc	11	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:99754477C>T	uc003utr.2	-	6	1164	c.984G>A	c.(982-984)GGG>GGA	p.G328G	C7orf43_uc010lgo.2_5'Flank|C7orf43_uc010lgp.2_5'UTR|C7orf43_uc011kjj.1_Silent_p.G96G|C7orf43_uc003uts.2_Silent_p.G59G	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	hypothetical protein LOC55262	328											0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTCCTTGGCCCCTGGAGGGG	0.602													T	99754477	C	T	99754477	2	4	27	1	0	0	0	0	0	0	0	1	2393	610	22	4		4	C7orf43	7	99754477	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	43959	99754477	59384186	3753	27704											
GAL3ST4	79690	broad.mit.edu	37	chr7	99757655	99757655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctcaggggtagctaggcGctcacattcctcttggtctt	12	11	4	0	rs150667953	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:99757655G>A	uc003utt.2	-	3	2374	c.1357C>T	c.(1357-1359)CGC>TGC	p.R453C	C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R453C|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R391C	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	453	Lumenal (Potential).				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTAGCTAGGCGCTCACATTCC	0.572													A	99757655	G	A	99757655	3	1	27	1	0	0	0	0	1	0	0	0	6200	1087	38	1	107	1	GAL3ST4	7	99757655	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3178	99757655	59381008	3754	27705											
STAG3	10734	broad.mit.edu	37	chr7	99811392	99811392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttccaccagtgagcgcgGgctggacctcttagattcta	10	13	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:99811392G>A	uc003utx.1	+	33	3787	c.3632G>A	c.(3631-3633)GGG>GAG	p.G1211E	STAG3_uc011kjk.1_Missense_Mutation_p.G1153E|GATS_uc003uty.3_Intron|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Missense_Mutation_p.G436E|GATS_uc011kjl.1_Intron|GATS_uc010lgu.2_Intron	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1211					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTGAGCGCGGGCTGGACCTC	0.478													A	99811392	G	A	99811392	3	1	27	1	0	0	0	0	1	0	0	0	15243	1232	43	4	3758	4	STAG3	7	99811392	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	53737	99811392	59327271	3755	27706											
ZCWPW1	55063	broad.mit.edu	37	chr7	100002680	100002680	+	Frame_Shift_Del	DEL	C	C	-													ttgagccatcatcagggccaCccccagtttctggctgcagt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:100002679_100002679AC>A	uc003uut.3	-	12	1456	c.1208_1208GT>T	c.(1207-1209)gtgfs	p.V403fs	ZCWPW1_uc011kjq.2_Frame_Shift_Del_p.V283fs|ZCWPW1_uc003uur.3_Frame_Shift_Del_p.V283fs|ZCWPW1_uc003uus.3_Frame_Shift_Del_p.V283fs|ZCWPW1_uc011kjr.2_Frame_Shift_Del_p.V403fs|ZCWPW1_uc003uuu.1_Frame_Shift_Del_p.V404fs|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	403							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CATCAGGGCCACCCCCAGTTT	0.468													-	100002680	C	-	100002680	7	5	27	1	0	1	0	1	0	0	0	0	17594	507	18	0	763	0	ZCWPW1	7	100002680	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	191288	100002680	59135983	3756	27707											
MEPCE	56257	broad.mit.edu	37	chr7	100028639	100028639	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagtggtgtctccccttcCatctgctctgcagggtccct	10	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:100028639C>A	uc003uuw.2	+	1	1111	c.998C>A	c.(997-999)CCA>CAA	p.P333Q	ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	bin3, bicoid-interacting 3	333							methyltransferase activity			upper_aerodigestive_tract(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTCCCCTTCCATCTGCTCTG	0.612													A	100028639	C	A	100028639	3	1	27	1	0	0	0	0	1	0	0	0	9477	594	21	5	1000	5	MEPCE	7	100028639	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	25959	100028639	59110024	3757	27708											
C7orf51	222950	broad.mit.edu	37	chr7	100086267	100086267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcccagcttcagccctccCgagccggagggacgggacgc	14	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:100086267C>T	uc003uvd.1	+	4	1082	c.923C>T	c.(922-924)CCG>CTG	p.P308L	C7orf51_uc003uve.1_Missense_Mutation_p.P90L	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	308	Pro-rich.									skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCAGCCCTCCCGAGCCGGAGG	0.697													T	100086267	C	T	100086267	3	4	27	1	0	0	0	0	1	0	0	0	2400	652	23	1	933	1	C7orf51	7	100086267	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	57628	100086267	59052396	3758	27709											
ACTL6B	51412	broad.mit.edu	37	chr7	100243920	100243920	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggggctgaacttgcgctcCatggtgctgttgctggcaat	14	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:100243920C>A	uc003uvy.2	-	13	1259	c.1152G>T	c.(1150-1152)ATG>ATT	p.M384I	ACTL6B_uc003uvx.1_Missense_Mutation_p.M175I|ACTL6B_uc003uvz.2_RNA	NM_016188	NP_057272	O94805	ACL6B_HUMAN	actin-like 6B	384					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			ovary(1)	1	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					ACTTGCGCTCCATGGTGCTGT	0.607													A	100243920	C	A	100243920	3	1	27	1	0	0	0	0	1	0	0	0	199	594	21	5	136	5	ACTL6B	7	100243920	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	157653	100243920	58894743	3759	27710											
ZAN	7455	broad.mit.edu	37	chr7	100350794	100350794	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgtctccacatgctccAagtacccctatgaccagtgt	8	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:100350794A>G	uc003uwj.2	+	14	3231	c.3066A>G	c.(3064-3066)CCA>CCG	p.P1022P	ZAN_uc003uwk.2_Silent_p.P1022P|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1022	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACATGCTCCAAGTACCCCTA	0.582													G	100350794	A	G	100350794	2	3	27	1	0	0	0	0	0	0	0	1	17510	117	5	3		3	ZAN	7	100350794	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	106874	100350794	58787869	3760	27711											
TRIP6	7205	broad.mit.edu	37	chr7	100469238	100469238	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgggctatggggaaggcctAccaccctggctgcttcacct	13	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:100469238A>G	uc003uww.2	+	7	1243	c.1073A>G	c.(1072-1074)TAC>TGC	p.Y358C		NM_003302	NP_003293	Q15654	TRIP6_HUMAN	thyroid receptor-interacting protein 6	358	LIM zinc-binding 2.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGAAGGCCTACCACCCTGGC	0.612													G	100469238	A	G	100469238	3	3	27	1	0	0	0	0	1	0	0	0	16556	391	14	3	1099	3	TRIP6	7	100469238	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	118444	100469238	58669425	3761	27712											
ACHE	43	broad.mit.edu	37	chr7	100490064	100490064	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcccaaagatgaactcgaTctcgtagccgtggggcaccc	11	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:100490064T>C	uc003uxd.2	-	2	1600	c.1444A>G	c.(1444-1446)ATC>GTC	p.I482V	UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Missense_Mutation_p.I482V|ACHE_uc003uxf.2_Missense_Mutation_p.I482V|ACHE_uc003uxg.2_Missense_Mutation_p.I482V|ACHE_uc003uxh.2_Missense_Mutation_p.I394V|ACHE_uc003uxi.2_Missense_Mutation_p.I482V	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	482					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	ATGAACTCGATCTCGTAGCCG	0.607													C	100490064	T	C	100490064	3	2	27	1	0	0	0	0	1	0	0	0	141	1435	50	3	547	3	ACHE	7	100490064	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	20826	100490064	58648599	3762	27713											
ACHE	43	broad.mit.edu	37	chr7	100491298	100491298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggccaggaagccaaaggCtcccacccggtagttcatgg	13	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:100491298C>T	uc003uxd.2	-	1	712	c.556G>A	c.(556-558)GCC>ACC	p.A186T	ACHE_uc003uxe.2_Missense_Mutation_p.A186T|ACHE_uc003uxf.2_Missense_Mutation_p.A186T|ACHE_uc003uxg.2_Missense_Mutation_p.A186T|ACHE_uc003uxh.2_Missense_Mutation_p.A186T|ACHE_uc003uxi.2_Missense_Mutation_p.A186T|ACHE_uc003uxj.1_Missense_Mutation_p.A305T	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	186					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	AAGCCAAAGGCTCCCACCCGG	0.647													T	100491298	C	T	100491298	3	4	27	1	0	0	0	0	1	0	0	0	141	797	28	2	1439	2	ACHE	7	100491298	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1234	100491298	58647365	3763	27714											
MUC17	140453	broad.mit.edu	37	chr7	100677683	100677683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcagccacacgctggtgGccaattctgaggctagcacc	11	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:100677683G>A	uc003uxp.1	+	3	3039	c.2986G>A	c.(2986-2988)GCC>ACC	p.A996T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	996	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|14.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CACGCTGGTGGCCAATTCTGA	0.512													A	100677683	G	A	100677683	3	1	27	1	0	0	0	0	1	0	0	0	9974	1203	42	2	2996	2	MUC17	7	100677683	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	186385	100677683	58460980	3764	27715											
MUC17	140453	broad.mit.edu	37	chr7	100679615	100679615	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taacaagtatacctgtcagcAccacgccggtggccagtcct	9	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:100679615A>G	uc003uxp.1	+	3	4971	c.4918A>G	c.(4918-4920)ACC>GCC	p.T1640A	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1640	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|25.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCTGTCAGCACCACGCCGGT	0.483													G	100679615	A	G	100679615	3	3	27	1	0	0	0	0	1	0	0	0	9974	159	6	3	4928	3	MUC17	7	100679615	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1932	100679615	58459048	3765	27716											
MUC17	140453	broad.mit.edu	37	chr7	100683690	100683690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtctgtcagcaccatgcCggtggccagttctgaggcta	12	11	3	1	rs142796970		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:100683690C>T	uc003uxp.1	+	3	9046	c.8993C>T	c.(8992-8994)CCG>CTG	p.P2998L	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2998	Extracellular (Potential).|Ser-rich.|48.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCACCATGCCGGTGGCCAGT	0.507													T	100683690	C	T	100683690	3	4	27	1	0	0	0	0	1	0	0	0	9974	652	23	1	9003	1	MUC17	7	100683690	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4075	100683690	58454973	3766	27717											
MUC17	140453	broad.mit.edu	37	chr7	100686475	100686475	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagccaccaccatatctgtAtcagtgatcacagaaggaag	9	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:100686475A>G	uc003uxp.1	+	3	11831	c.11778A>G	c.(11776-11778)GTA>GTG	p.V3926V	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3926	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CCATATCTGTATCAGTGATCA	0.483													G	100686475	A	G	100686475	2	3	27	1	0	0	0	0	0	0	0	1	9974	436	16	3		3	MUC17	7	100686475	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2785	100686475	58452188	3767	27718											
TRIM56	81844	broad.mit.edu	37	chr7	100732344	100732344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagtgcagtggcgcagggCcctgagcctctcccaggcca	14	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:100732344C>T	uc003uxq.2	+	3	1982	c.1751C>T	c.(1750-1752)GCC>GTC	p.A584V	TRIM56_uc003uxr.2_Intron	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	584					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					TGGCGCAGGGCCCTGAGCCTC	0.687													T	100732344	C	T	100732344	3	4	27	1	0	0	0	0	1	0	0	0	16527	739	26	2	1753	2	TRIM56	7	100732344	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	45869	100732344	58406319	3768	27719											
PLOD3	8985	broad.mit.edu	37	chr7	100856390	100856390	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagaccactggtggcacctTagtgggaccgtttccatgga	13	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:100856390T>C	uc003uyd.2	-	7	1231	c.775A>G	c.(775-777)AAG>GAG	p.K259E	PLOD3_uc010lhs.2_5'Flank	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	259					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GGTGGCACCTTAGTGGGACCG	0.602													C	100856390	T	C	100856390	3	2	27	1	0	0	0	0	1	0	0	0	12103	1763	61	3	1493	3	PLOD3	7	100856390	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	124046	100856390	58282273	3769	27720											
EMID2	136227	broad.mit.edu	37	chr7	101188738	101188738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacagcccccagggcgccCtctactccctgcagccgcct	8	21	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:101188738C>T	uc010lhy.1	+	7	1009	c.817C>T	c.(817-819)CTC>TTC	p.L273F	EMID2_uc003uyo.1_Missense_Mutation_p.L275F	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	EMI domain containing 2	275						collagen				ovary(1)	1	Lung NSC(181;0.215)					CCAGGGCGCCCTCTACTCCCT	0.687													T	101188738	C	T	101188738	3	4	27	1	0	0	0	0	1	0	0	0	5092	681	24	4	843	4	EMID2	7	101188738	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	332348	101188738	57949925	3770	27721											
CUX1	1523	broad.mit.edu	37	chr7	101840234	101840234	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacaggtccatacagcacaAactccatatcttcccaaagt	4	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:101840234A>G	uc003uyx.3	+	15	1581	c.1543A>G	c.(1543-1545)AAC>GAC	p.N515D	CUX1_uc003uys.3_Missense_Mutation_p.N526D|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	515					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						ATACAGCACAAACTCCATATC	0.522													G	101840234	A	G	101840234	3	3	27	1	0	0	0	0	1	0	0	0	4064	14	1	3	1668	3	CUX1	7	101840234	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	651496	101840234	57298429	3771	27722											
SH2B2	10603	broad.mit.edu	37	chr7	101960844	101960844	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggccagtgtcacgtacagcAtctgtggttccagtctgtgc	12	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:101960844A>G	uc011kko.1	+	6	1616	c.1571A>G	c.(1570-1572)CAT>CGT	p.H524R		NM_020979	NP_066189	O14492	SH2B2_HUMAN	SH2B adaptor protein 2	481	SH2.				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity				0						CACGTACAGCATCTGTGGTTC	0.642													G	101960844	A	G	101960844	3	3	27	1	0	0	0	0	1	0	0	0	14228	217	8	3	1333	3	SH2B2	7	101960844	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	120610	101960844	57177819	3772	27723											
LRWD1	222229	broad.mit.edu	37	chr7	102106487	102106487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcagcctggagggcaacCccttcctgacggtaagtggg	13	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:102106487C>T	uc003uzn.2	+	2	442	c.304C>T	c.(304-306)CCC>TCC	p.P102S	ALKBH4_uc003uzl.2_5'Flank|ALKBH4_uc003uzm.2_5'Flank|LRWD1_uc003uzo.2_5'UTR	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain	102	LRR 4.				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			skin(1)	1						GGAGGGCAACCCCTTCCTGAC	0.622													T	102106487	C	T	102106487	3	4	27	1	0	0	0	0	1	0	0	0	9047	623	22	4	310	4	LRWD1	7	102106487	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	145643	102106487	57032176	3773	27724											
LRWD1	222229	broad.mit.edu	37	chr7	102108751	102108751	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacttcctgcagtgccaCagcaagaacaacagccccca	7	17	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:102108751C>T	uc003uzn.2	+	7	984	c.846C>T	c.(844-846)CAC>CAT	p.H282H	LRWD1_uc003uzo.2_Silent_p.H130H	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain	282					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			skin(1)	1						TGCAGTGCCACAGCAAGAACA	0.667													T	102108751	C	T	102108751	2	4	27	1	0	0	0	0	0	0	0	1	9047	477	17	4		4	LRWD1	7	102108751	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2264	102108751	57029912	3774	27725											
NAPEPLD	222236	broad.mit.edu	37	chr7	102760524	102760524	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcacgagagctaaagatgggAtccgtgagaaatatgagctc	13	7	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:102760524A>T	uc003vbc.2	-	3	769	c.441T>A	c.(439-441)GAT>GAA	p.D147E	NAPEPLD_uc003vbd.2_Missense_Mutation_p.D147E|NAPEPLD_uc011klj.1_Missense_Mutation_p.D220E|NAPEPLD_uc003vbe.2_RNA	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	147					phospholipid catabolic process	membrane	metal ion binding			skin(1)	1						TAAAGATGGGATCCGTGAGAA	0.512													T	102760524	A	T	102760524	3	4	27	1	0	0	0	0	1	0	0	0	10163	330	12	5	752	5	NAPEPLD	7	102760524	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	651773	102760524	56378139	3775	27726											
PMPCB	9512	broad.mit.edu	37	chr7	102948078	102948078	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattgcttgacttagcaaagTttcatttcggtgactcttta	7	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:102948078T>C	uc003vbl.2	+	7	806	c.772T>C	c.(772-774)TTT>CTT	p.F258L	PMPCB_uc010liu.1_Missense_Mutation_p.F258L|PMPCB_uc003vbk.1_Missense_Mutation_p.F258L|PMPCB_uc003vbm.2_Missense_Mutation_p.F167L|PMPCB_uc010liv.2_Missense_Mutation_p.F164L|PMPCB_uc010liw.2_Missense_Mutation_p.F167L|PMPCB_uc011kll.1_Missense_Mutation_p.F153L|PMPCB_uc011klm.1_Missense_Mutation_p.F133L	NM_004279	NP_004270	O75439	MPPB_HUMAN	mitochondrial processing peptidase beta subunit	258					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)	4						CTTAGCAAAGTTTCATTTCGG	0.398													C	102948078	T	C	102948078	3	2	27	1	0	0	0	0	1	0	0	0	12141	1725	60	3	798	3	PMPCB	7	102948078	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	187554	102948078	56190585	3776	27727											
RELN	5649	broad.mit.edu	37	chr7	103124188	103124188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtgatcccgttgttgaCgctgtattgcagcagcactg	12	11	0	2	rs115035120	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:103124188C>T	uc003vca.2	-	62	10253	c.10093G>A	c.(10093-10095)GTC>ATC	p.V3365I	RELN_uc010liz.2_Missense_Mutation_p.V3365I	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3365	BNR 16.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.V3365I(1)		ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCGTTGTTGACGCTGTATTGC	0.552													T	103124188	C	T	103124188	3	4	27	1	0	0	0	0	1	0	0	0	13220	536	19	1	305	1	RELN	7	103124188	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	176110	103124188	56014475	3777	27728											
RELN	5649	broad.mit.edu	37	chr7	103130326	103130326	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagtttcttctcccttctggAtccagcggaactgtgttgca	9	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:103130326A>T	uc003vca.2	-	60	9786	c.9626T>A	c.(9625-9627)ATC>AAC	p.I3209N	RELN_uc010liz.2_Missense_Mutation_p.I3209N	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3209					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCCTTCTGGATCCAGCGGAA	0.542													T	103130326	A	T	103130326	3	4	27	1	0	0	0	0	1	0	0	0	13220	333	12	5	780	5	RELN	7	103130326	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	6138	103130326	56008337	3778	27729											
RELN	5649	broad.mit.edu	37	chr7	103230160	103230160	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccttcgcatcctttgcctGcagaagccgggtaacagcct	9	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:103230160G>T	uc003vca.2	-	28	4188	c.4028C>A	c.(4027-4029)GCA>GAA	p.A1343E	RELN_uc010liz.2_Missense_Mutation_p.A1343E	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1343					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCTTTGCCTGCAGAAGCCGG	0.468													T	103230160	G	T	103230160	3	4	27	1	0	0	0	0	1	0	0	0	13220	1319	46	5	6506	5	RELN	7	103230160	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	99834	103230160	55908503	3779	27730											
CDHR3	222256	broad.mit.edu	37	chr7	105641973	105641973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgtggccaatatcacagCggaggatcctgatgatgaag	12	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:105641973C>T	uc003vdl.3	+	7	887	c.779C>T	c.(778-780)GCG>GTG	p.A260V	CDHR3_uc003vdk.2_Intron|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Missense_Mutation_p.A247V|CDHR3_uc011klt.1_Missense_Mutation_p.A172V|CDHR3_uc003vdn.2_5'UTR	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	260	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						AATATCACAGCGGAGGATCCT	0.483													T	105641973	C	T	105641973	3	4	27	1	0	0	0	0	1	0	0	0	3120	768	27	1	805	1	CDHR3	7	105641973	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2411813	105641973	53496690	3780	27731											
PIK3CG	5294	broad.mit.edu	37	chr7	106508059	106508059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgagagaggacaactgccGaaggcgccggaggatgaagc	17	9	0	3	rs142380460	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:106508059G>A	uc003vdv.3	+	2	138	c.53G>A	c.(52-54)CGA>CAA	p.R18Q	PIK3CG_uc003vdu.2_Missense_Mutation_p.R18Q|PIK3CG_uc003vdw.2_Missense_Mutation_p.R18Q	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	18					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.R18Q(1)		lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						GACAACTGCCGAAGGCGCCGG	0.612													A	106508059	G	A	106508059	3	1	27	1	0	0	0	0	1	0	0	0	11916	1058	37	1	55	1	PIK3CG	7	106508059	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	866086	106508059	52630604	3781	27732											
PIK3CG	5294	broad.mit.edu	37	chr7	106508394	106508394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctactggaaggccacgcacCggagcccgggccagatccac	13	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:106508394C>T	uc003vdv.3	+	2	473	c.388C>T	c.(388-390)CGG>TGG	p.R130W	PIK3CG_uc003vdu.2_Missense_Mutation_p.R130W|PIK3CG_uc003vdw.2_Missense_Mutation_p.R130W	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	130					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						GGCCACGCACCGGAGCCCGGG	0.637													T	106508394	C	T	106508394	3	4	27	1	0	0	0	0	1	0	0	0	11916	643	23	1	390	1	PIK3CG	7	106508394	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	335	106508394	52630269	3782	27733											
PRKAR2B	5577	broad.mit.edu	37	chr7	106781302	106781302	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttaaaaataggagcagatgtCtcaagtattagatgccatgt	9	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:106781302C>T	uc003vdx.2	+	5	666	c.491C>T	c.(490-492)TCT>TTT	p.S164F		NM_002736	NP_002727	P31323	KAP3_HUMAN	cAMP-dependent protein kinase, regulatory	164	cAMP 1.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1						GAGCAGATGTCTCAAGTATTA	0.323													T	106781302	C	T	106781302	3	4	27	1	0	0	0	0	1	0	0	0	12506	913	32	4	509	4	PRKAR2B	7	106781302	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	272908	106781302	52357361	3783	27734											
PRKAR2B	5577	broad.mit.edu	37	chr7	106799932	106799932	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaggcttctgggacctTgcatggaaattatgaaaagg	12	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:106799932T>A	uc003vdx.2	+	11	1337	c.1162T>A	c.(1162-1164)TGC>AGC	p.C388S		NM_002736	NP_002727	P31323	KAP3_HUMAN	cAMP-dependent protein kinase, regulatory	388	cAMP 2.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1						TCTGGGACCTTGCATGGAAAT	0.373													A	106799932	T	A	106799932	3	1	27	1	0	0	0	0	1	0	0	0	12506	1812	63	5	1204	5	PRKAR2B	7	106799932	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	18630	106799932	52338731	3784	27735											
HBP1	26959	broad.mit.edu	37	chr7	106830637	106830637	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttggtcatcattttatccAagcttgactgtggtacagca	10	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:106830637A>G	uc003vdy.2	+	8	1128	c.942A>G	c.(940-942)CCA>CCG	p.P314P	HBP1_uc011klv.1_Silent_p.P324P|HBP1_uc003vdz.2_Silent_p.P314P|HBP1_uc003vea.2_Silent_p.P314P|HBP1_uc003veb.1_Silent_p.P314P	NM_012257	NP_036389	O60381	HBP1_HUMAN	HMG-box transcription factor 1	314	AXH.				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			skin(1)	1						CATTTTATCCAAGCTTGACTG	0.393													G	106830637	A	G	106830637	2	3	27	1	0	0	0	0	0	0	0	1	6985	117	5	3		3	HBP1	7	106830637	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	30705	106830637	52308026	3785	27736											
BCAP29	55973	broad.mit.edu	37	chr7	107258781	107258781	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttccttacaggatcgtttAgaaagaggcaacaagaaaag	9	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:107258781A>G	uc003vej.2	+	8	1038	c.699A>G	c.(697-699)TTA>TTG	p.L233L	BCAP29_uc011kly.1_Silent_p.L139L|BCAP29_uc011klz.1_Intron|BCAP29_uc011kma.1_Missense_Mutation_p.R260G	NM_018844	NP_061332	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein BAP29 isoform	233	Cytoplasmic (Potential).				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				large_intestine(1)|ovary(1)	2						AGGATCGTTTAGAAAGAGGCA	0.294													G	107258781	A	G	107258781	2	3	27	1	0	0	0	0	0	0	0	1	1346	421	15	3		3	BCAP29	7	107258781	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	428144	107258781	51879882	3786	27737											
LAMB1	3912	broad.mit.edu	37	chr7	107575974	107575974	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattctcgctccatcatcacGtcttctactctgtctctcat	4	15	8	0	rs146681738		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:107575974G>A	uc003vew.2	-	27	4409	c.4074C>T	c.(4072-4074)GAC>GAT	p.D1358D	LAMB1_uc003vev.2_Silent_p.D1382D	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	1358	Potential.|Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCATCATCACGTCTTCTACTC	0.527													A	107575974	G	A	107575974	2	1	27	1	0	0	0	0	0	0	0	1	8610	1136	40	1		1	LAMB1	7	107575974	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	317193	107575974	51562689	3787	27738											
LAMB4	22798	broad.mit.edu	37	chr7	107677924	107677924	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtaatcctcacagagttGcatatgtttctgtattttga	7	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:107677924G>A	uc010ljo.1	-	30	4672	c.4588C>T	c.(4588-4590)CAA>TAA	p.Q1530*	LAMB4_uc003vey.2_Nonsense_Mutation_p.Q1530*|LAMB4_uc010ljp.1_Nonsense_Mutation_p.Q499*	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1530	Potential.|Domain I.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						TCACAGAGTTGCATATGTTTC	0.418													A	107677924	G	A	107677924	4	1	27	1	0	0	0	0	0	1	0	0	8613	1328	46	2	717	2	LAMB4	7	107677924	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	101950	107677924	51460739	3788	27739											
DNAJB9	4189	broad.mit.edu	37	chr7	108213489	108213489	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgacttatttaaagacTttggcttttttggtcaaaac	7	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:108213489T>C	uc003vfn.2	+	3	566	c.364T>C	c.(364-366)TTT>CTT	p.F122L		NM_012328	NP_036460	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	122					ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding				0						ATTTAAAGACTTTGGCTTTTT	0.388													C	108213489	T	C	108213489	3	2	27	1	0	0	0	0	1	0	0	0	4627	1609	56	3	370	3	DNAJB9	7	108213489	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	535565	108213489	50925174	3789	27740											
LRRN3	54674	broad.mit.edu	37	chr7	110763174	110763174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattaatgtaaaaaagatgCctcagctcctttctgtgtac	6	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:110763174C>T	uc003vft.3	+	4	1392	c.346C>T	c.(346-348)CCT>TCT	p.P116S	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.P116S|LRRN3_uc003vfs.3_Missense_Mutation_p.P116S	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	116	Extracellular (Potential).					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AAAAAAGATGCCTCAGCTCCT	0.353													T	110763174	C	T	110763174	3	4	27	1	0	0	0	0	1	0	0	0	9036	739	26	2	348	2	LRRN3	7	110763174	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2549685	110763174	48375489	3790	27741											
LRRN3	54674	broad.mit.edu	37	chr7	110764599	110764599	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccatcaactgagtataaaAtttgtattgatattcccacc	4	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:110764599A>G	uc003vft.3	+	4	2817	c.1771A>G	c.(1771-1773)ATT>GTT	p.I591V	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.I591V|LRRN3_uc003vfs.3_Missense_Mutation_p.I591V	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	591	Extracellular (Potential).|Fibronectin type-III.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TGAGTATAAAATTTGTATTGA	0.348													G	110764599	A	G	110764599	3	3	27	1	0	0	0	0	1	0	0	0	9036	101	4	3	1773	3	LRRN3	7	110764599	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1425	110764599	48374064	3791	27742											
LRRN3	54674	broad.mit.edu	37	chr7	110764825	110764825	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagctatgtgaggaattactTacagaaaccaacctttgcat	7	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:110764825T>A	uc003vft.3	+	4	3043	c.1997T>A	c.(1996-1998)TTA>TAA	p.L666*	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Nonsense_Mutation_p.L666*|LRRN3_uc003vfs.3_Nonsense_Mutation_p.L666*	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	666	Cytoplasmic (Potential).					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AGGAATTACTTACAGAAACCA	0.418													A	110764825	T	A	110764825	4	1	27	1	0	0	0	0	0	1	0	0	9036	1764	61	5	1999	5	LRRN3	7	110764825	Nonsense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	226	110764825	48373838	3792	27743											
GPR85	54329	broad.mit.edu	37	chr7	112723818	112723818	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccagacagcagctgttagaAatccccctggtactacaggc	9	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:112723818A>T	uc010ljv.2	-	2	1476	c.959T>A	c.(958-960)TTT>TAT	p.F320Y	GPR85_uc003vgp.1_Missense_Mutation_p.F320Y|GPR85_uc003vgq.2_Missense_Mutation_p.F320Y|GPR85_uc010ljw.1_Missense_Mutation_p.F320Y	NM_001146266	NP_001139738	P60893	GPR85_HUMAN	G protein-coupled receptor 85	320	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)	2						AGCTGTTAGAAATCCCCCTGG	0.473													T	112723818	A	T	112723818	3	4	27	1	0	0	0	0	1	0	0	0	6715	14	1	5	157	5	GPR85	7	112723818	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1958993	112723818	46414845	3793	27744											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519801	113519801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaggtatttgcactgtgCcattgccatgggctggatta	13	8	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:113519801C>T	uc010ljy.1	-	4	1377	c.1346G>A	c.(1345-1347)GGC>GAC	p.G449D		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	449					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						TTGCACTGTGCCATTGCCATG	0.398													T	113519801	C	T	113519801	3	4	27	1	0	0	0	0	1	0	0	0	12371	739	26	2	2026	2	PPP1R3A	7	113519801	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	795983	113519801	45618862	3794	27745											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558357	113558357	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggctcttgttctttctttTgacaaatgaatgtataattt	6	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:113558357T>C	uc010ljy.1	-	1	726	c.695A>G	c.(694-696)CAA>CGA	p.Q232R		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	232					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						TTCTTTCTTTTGACAAATGAA	0.338													C	113558357	T	C	113558357	3	2	27	1	0	0	0	0	1	0	0	0	12371	1812	63	3	2689	3	PPP1R3A	7	113558357	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	38556	113558357	45580306	3795	27746											
FOXP2	93986	broad.mit.edu	37	chr7	114304425	114304425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtccacgaagacctcaAtggttctctggatcacattg	10	12	3	1	rs145154396	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:114304425A>G	uc003vhb.2	+	16	2311	c.1937A>G	c.(1936-1938)AAT>AGT	p.N646S	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.N671S|FOXP2_uc003vha.2_Missense_Mutation_p.N554S|FOXP2_uc011kmu.1_Missense_Mutation_p.N663S|FOXP2_uc011kmv.1_Missense_Mutation_p.N645S|FOXP2_uc010ljz.1_Missense_Mutation_p.N461S	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	646					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						GAAGACCTCAATGGTTCTCTG	0.493													G	114304425	A	G	114304425	3	3	27	1	0	0	0	0	1	0	0	0	6027	101	4	3	2162	3	FOXP2	7	114304425	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	746068	114304425	44834238	3796	27747											
MET	4233	broad.mit.edu	37	chr7	116339390	116339390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagaaggttgctgagtaCaagactgggcctgtgctgga	14	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:116339390C>T	uc003vij.2	+	2	439	c.252C>T	c.(250-252)TAC>TAT	p.Y84Y	MET_uc010lkh.2_Silent_p.Y84Y|MET_uc011knc.1_Silent_p.Y84Y|MET_uc011knd.1_Silent_p.Y84Y|MET_uc011kne.1_Silent_p.Y84Y|MET_uc011knf.1_Silent_p.Y84Y|MET_uc011kng.1_Silent_p.Y84Y|MET_uc011knh.1_Silent_p.Y84Y|MET_uc011kni.1_Silent_p.Y84Y|MET_uc003vii.1_Silent_p.Y103Y|MET_uc010lkg.2_Silent_p.Y84Y|MET_uc011kmz.1_Silent_p.Y84Y|MET_uc011kna.1_Silent_p.Y84Y|MET_uc011knb.1_Silent_p.Y84Y	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	84	Extracellular (Potential).|Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTGCTGAGTACAAGACTGGGC	0.433			Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				T	116339390	C	T	116339390	2	4	27	1	0	0	0	0	0	0	0	1	9485	489	17	4		4	MET	7	116339390	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2034965	116339390	42799273	3797	27748											
MET	4233	broad.mit.edu	37	chr7	116339813	116339813	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaggaaacgaaagatggTtttatgtttttgacggacca	10	5	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:116339813T>C	uc003vij.2	+	2	862	c.675T>C	c.(673-675)GGT>GGC	p.G225G	MET_uc010lkh.2_Silent_p.G225G|MET_uc011knc.1_Silent_p.G225G|MET_uc011knd.1_Silent_p.G225G|MET_uc011kne.1_Silent_p.G225G|MET_uc011knf.1_Silent_p.G225G|MET_uc011kng.1_Silent_p.G225G|MET_uc011knh.1_Silent_p.G225G|MET_uc011kni.1_Silent_p.G225G|MET_uc003vii.1_Silent_p.G244G|MET_uc010lkg.2_Silent_p.G225G|MET_uc011kmz.1_Silent_p.G225G|MET_uc011kna.1_Silent_p.G225G|MET_uc011knb.1_Silent_p.G225G	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	225	Extracellular (Potential).|Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CGAAAGATGGTTTTATGTTTT	0.363			Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				C	116339813	T	C	116339813	2	2	27	1	0	0	0	0	0	0	0	1	9485	1712	60	3		3	MET	7	116339813	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	423	116339813	42798850	3798	27749											
WNT2	7472	broad.mit.edu	37	chr7	116955236	116955236	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcccatagtcaatgttAtcactgcagccaccccaatc	5	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:116955236A>T	uc003viz.2	-	3	777	c.477T>A	c.(475-477)GAT>GAA	p.D159E	WNT2_uc003vja.2_Missense_Mutation_p.D63E	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	159					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		AGTCAATGTTATCACTGCAGC	0.428													T	116955236	A	T	116955236	3	4	27	1	0	0	0	0	1	0	0	0	17383	446	16	5	617	5	WNT2	7	116955236	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	615423	116955236	42183427	3799	27750											
WNT2	7472	broad.mit.edu	37	chr7	116960775	116960775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgtcggtgacacagctgCcgctggctgctcaccaggcc	14	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:116960775C>T	uc003viz.2	-	2	456	c.156G>A	c.(154-156)CGG>CGA	p.R52R	WNT2_uc003vja.2_5'UTR	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	52					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GACACAGCTGCCGCTGGCTGC	0.597													T	116960775	C	T	116960775	2	4	27	1	0	0	0	0	0	0	0	1	17383	726	26	2		2	WNT2	7	116960775	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5539	116960775	42177888	3800	27751											
CTTNBP2	83992	broad.mit.edu	37	chr7	117431265	117431265	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatggaagagcaaaaggcaAtggtggtaggaatgacaagg	15	3	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:117431265A>G	uc003vjf.2	-	4	2077	c.1985T>C	c.(1984-1986)ATT>ACT	p.I662T		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	662										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCAAAAGGCAATGGTGGTAGG	0.547													G	117431265	A	G	117431265	3	3	27	1	0	0	0	0	1	0	0	0	4045	101	4	3	3086	3	CTTNBP2	7	117431265	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	470490	117431265	41707398	3801	27752											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432080	117432080	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctactggttggatctggtgtTgagccagtgcttggtccatt	13	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:117432080T>C	uc003vjf.2	-	4	1262	c.1170A>G	c.(1168-1170)TCA>TCG	p.S390S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	390	Pro-rich.									ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GATCTGGTGTTGAGCCAGTGC	0.547													C	117432080	T	C	117432080	2	2	27	1	0	0	0	0	0	0	0	1	4045	1799	63	3		3	CTTNBP2	7	117432080	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	815	117432080	41706583	3802	27753											
ANKRD7	56311	broad.mit.edu	37	chr7	117876922	117876922	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaggtgtggaattatgTtacgaaggtattgtggattc	13	4	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:117876922T>C	uc003vji.2	+	5	827	c.654T>C	c.(652-654)TGT>TGC	p.C218C		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	218	ANK 5.				male gonad development						0						TGGAATTATGTTACGAAGGTA	0.398													C	117876922	T	C	117876922	2	2	27	1	0	0	0	0	0	0	0	1	686	1731	60	3		3	ANKRD7	7	117876922	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	444842	117876922	41261741	3803	27754											
TSPAN12	23554	broad.mit.edu	37	chr7	120496772	120496772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaagagcagattgagggCgtagagcaggcagcgcagac	15	9	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:120496772C>T	uc003vjk.2	-	2	420	c.46G>A	c.(46-48)GCC>ACC	p.A16T		NM_012338	NP_036470	O95859	TSN12_HUMAN	transmembrane 4 superfamily member 12	16	Helical; (Potential).				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction					0	all_neural(327;0.117)					AGATTGAGGGCGTAGAGCAGG	0.557													T	120496772	C	T	120496772	3	4	27	1	0	0	0	0	1	0	0	0	16633	768	27	1	899	1	TSPAN12	7	120496772	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2619850	120496772	38641891	3804	27755											
FAM3C	10447	broad.mit.edu	37	chr7	121002996	121002996	+	Frame_Shift_Del	DEL	T	T	-													agtgtctaatacttctcctgTttttcctaaaagagattaaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:121002995_121002995GT>G	uc003vjx.3	-	6	586	c.338_338AC>C	c.(337-339)acafs	p.T113fs	FAM3C_uc010lkm.3_Frame_Shift_Del_p.T113fs	NM_014888	NP_055703	Q92520	FAM3C_HUMAN	Homo sapiens family with sequence similarity 3, member C (FAM3C), transcript variant 1, mRNA.	113					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					TACTTCTCCTGTTTTTCCTAA	0.323													-	121002996	T	-	121002996	7	5	27	1	0	1	0	1	0	0	0	0	5558	1725	60	0	362	0	FAM3C	7	121002996	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	506224	121002996	38135667	3805	27756											
PTPRZ1	5803	broad.mit.edu	37	chr7	121650696	121650696	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccacctcacactgtggaAggtacttcagcctctttaaa	7	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:121650696A>C	uc003vjy.2	+	12	1991	c.1596A>C	c.(1594-1596)GAA>GAC	p.E532D	PTPRZ1_uc003vjz.2_Missense_Mutation_p.E532D|PTPRZ1_uc011knt.1_5'UTR	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	532	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						ACACTGTGGAAGGTACTTCAG	0.398													C	121650696	A	C	121650696	3	2	27	1	0	0	0	0	1	0	0	0	12814	69	3	5	1642	5	PTPRZ1	7	121650696	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	647700	121650696	37487967	3806	27757											
PTPRZ1	5803	broad.mit.edu	37	chr7	121652348	121652348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatgtaaataagttgaatgCgtctttacaagaaacctctg	7	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:121652348C>T	uc003vjy.2	+	12	3643	c.3248C>T	c.(3247-3249)GCG>GTG	p.A1083V	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1083	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						AAGTTGAATGCGTCTTTACAA	0.398													T	121652348	C	T	121652348	3	4	27	1	0	0	0	0	1	0	0	0	12814	768	27	1	3294	1	PTPRZ1	7	121652348	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1652	121652348	37486315	3807	27758											
PTPRZ1	5803	broad.mit.edu	37	chr7	121694043	121694043	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatttctggaggatgatatGggaccataatgcccaactgg	13	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:121694043G>A	uc003vjy.2	+	26	6727	c.6332G>A	c.(6331-6333)TGG>TAG	p.W2111*	PTPRZ1_uc003vjz.2_Nonsense_Mutation_p.W1244*|PTPRZ1_uc011knt.1_Nonsense_Mutation_p.W701*	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	2111	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						AGGATGATATGGGACCATAAT	0.438													A	121694043	G	A	121694043	4	1	27	1	0	0	0	0	0	1	0	0	12814	1357	47	4	6434	4	PTPRZ1	7	121694043	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	41695	121694043	37444620	3808	27759											
AASS	10157	broad.mit.edu	37	chr7	121719675	121719675	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcctccaactgggtaTtgtctcctcctagtttctta	7	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:121719675T>C	uc003vka.2	-	20	2468	c.2372A>G	c.(2371-2373)AAT>AGT	p.N791S	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.N791S|AASS_uc011knw.1_Missense_Mutation_p.N279S	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	791	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	CAACTGGGTATTGTCTCCTCC	0.423													C	121719675	T	C	121719675	3	2	27	1	0	0	0	0	1	0	0	0	24	1493	52	3	424	3	AASS	7	121719675	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	25632	121719675	37418988	3809	27760											
AASS	10157	broad.mit.edu	37	chr7	121773641	121773641	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagattggtgatgcctttgAtgtgcttgggagctagcggg	16	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:121773641A>G	uc003vka.2	-	1	236	c.140T>C	c.(139-141)ATC>ACC	p.I47T	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.I47T|AASS_uc011knw.1_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	47	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	GATGCCTTTGATGTGCTTGGG	0.517													G	121773641	A	G	121773641	3	3	27	1	0	0	0	0	1	0	0	0	24	333	12	3	2732	3	AASS	7	121773641	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	53966	121773641	37365022	3810	27761											
CADPS2	93664	broad.mit.edu	37	chr7	121960379	121960379	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacaccctgcaatcgaaagTccctgtaggttttctgaaga	8	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:121960379T>C	uc010lkp.2	-	29	3894	c.3731A>G	c.(3730-3732)GAC>GGC	p.D1244G	CADPS2_uc011knx.1_Missense_Mutation_p.D619G|CADPS2_uc003vkg.3_Missense_Mutation_p.D898G|CADPS2_uc010lkq.2_Missense_Mutation_p.D1203G	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	1244					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						CAATCGAAAGTCCCTGTAGGT	0.388													C	121960379	T	C	121960379	3	2	27	1	0	0	0	0	1	0	0	0	2571	1667	58	3	163	3	CADPS2	7	121960379	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	186738	121960379	37178284	3811	27762											
RNF148	378925	broad.mit.edu	37	chr7	122342388	122342388	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccctggtgagacatgggaaaTactttactgcccgtaccttg	10	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:122342388T>A	uc003vkk.1	-	1	634	c.417A>T	c.(415-417)GTA>GTT	p.V139V	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF148_uc010lkr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	ring finger protein 148 precursor	139	PA.					integral to membrane	zinc ion binding				0						ACATGGGAAATACTTTACTGC	0.448													A	122342388	T	A	122342388	2	1	27	1	0	0	0	0	0	0	0	1	13449	1393	49	5		5	RNF148	7	122342388	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	382009	122342388	36796275	3812	27763											
TAS2R16	50833	broad.mit.edu	37	chr7	122635453	122635453	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaggtgattgttaagttgCaaagtacataattcaaatta	7	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:122635453C>A	uc003vkl.1	-	1	302	c.236G>T	c.(235-237)TGC>TTC	p.C79F		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	79	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2						TGTTAAGTTGCAAAGTACATA	0.388													A	122635453	C	A	122635453	3	1	27	1	0	0	0	0	1	0	0	0	15566	710	25	5	643	5	TAS2R16	7	122635453	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	293065	122635453	36503210	3813	27764											
TAS2R16	50833	broad.mit.edu	37	chr7	122635559	122635559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgagaatcatgtccacagGcatcagccttctgacttgca	9	11	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:122635559G>A	uc003vkl.1	-	1	196	c.130C>T	c.(130-132)CCT>TCT	p.P44S		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	44	Helical; Name=2; (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2						ATGTCCACAGGCATCAGCCTT	0.443													A	122635559	G	A	122635559	3	1	27	1	0	0	0	0	1	0	0	0	15566	1203	42	2	749	2	TAS2R16	7	122635559	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	106	122635559	36503104	3814	27765											
TAS2R16	50833	broad.mit.edu	37	chr7	122635650	122635650	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtcaaggactcaagcacataGatgatcatgaagaagacagt	10	7	3	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:122635650G>T	uc003vkl.1	-	1	105	c.39C>A	c.(37-39)ATC>ATA	p.I13I		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	13	Helical; Name=1; (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2						CAAGCACATAGATGATCATGA	0.453													T	122635650	G	T	122635650	2	4	27	1	0	0	0	0	0	0	0	1	15566	932	33	5		5	TAS2R16	7	122635650	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	91	122635650	36503013	3815	27766											
IQUB	154865	broad.mit.edu	37	chr7	123143001	123143001	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaataaaaacattacctgCgtatccctacaaaatatact	2	10	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:123143001C>T	uc003vkn.2	-	5	1441	c.864G>A	c.(862-864)ACG>ACA	p.T288T	IQUB_uc003vko.2_Silent_p.T288T|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Silent_p.T288T|IQUB_uc003vkq.2_3'UTR	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	288										ovary(3)|large_intestine(1)	4						ACATTACCTGCGTATCCCTAC	0.338													T	123143001	C	T	123143001	2	4	27	1	0	0	0	0	0	0	0	1	7820	755	27	1		1	IQUB	7	123143001	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	507351	123143001	35995662	3816	27767											
GPR37	2861	broad.mit.edu	37	chr7	124387074	124387074	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgtgggcaaacaaaagtaAcagccaaaataccaccacag	8	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:124387074A>G	uc003vli.2	-	2	1998	c.1347T>C	c.(1345-1347)TGT>TGC	p.C449C		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	449	Helical; Name=5; (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						AACAAAAGTAACAGCCAAAAT	0.478													G	124387074	A	G	124387074	2	3	27	1	0	0	0	0	0	0	0	1	6691	41	2	3		3	GPR37	7	124387074	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1244073	124387074	34751589	3817	27768											
GRM8	2918	broad.mit.edu	37	chr7	126173162	126173162	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acagtacaagtgaccatcaaGaggatactgtatccaagtga	9	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:126173162G>A	uc003vlr.2	-	8	2585	c.2274C>T	c.(2272-2274)CTC>CTT	p.L758L	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.L758L|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	758	Helical; Name=5; (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGACCATCAAGAGGATACTGT	0.448										HNSCC(24;0.065)			A	126173162	G	A	126173162	2	1	27	1	0	0	0	0	0	0	0	1	6803	929	33	4		4	GRM8	7	126173162	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1786088	126173162	32965501	3818	27769											
FSCN3	29999	broad.mit.edu	37	chr7	127238634	127238634	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacagcctgctgatggccaAtgtcatccttccaggtgagt	10	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:127238634A>G	uc003vmd.1	+	4	1325	c.1106A>G	c.(1105-1107)AAT>AGT	p.N369S	FSCN3_uc011koh.1_Missense_Mutation_p.N235S|FSCN3_uc010llc.1_Missense_Mutation_p.N369S	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	369						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1						CTGATGGCCAATGTCATCCTT	0.532													G	127238634	A	G	127238634	3	3	27	1	0	0	0	0	1	0	0	0	6069	101	4	3	1120	3	FSCN3	7	127238634	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1065472	127238634	31900029	3819	27770											
SND1	27044	broad.mit.edu	37	chr7	127361418	127361418	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacgattcacctgtccagCatccgaccaccgaggctgga	10	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:127361418C>T	uc003vmi.2	+	10	1342	c.1116C>T	c.(1114-1116)AGC>AGT	p.S372S	SND1_uc010lle.2_Silent_p.S25S	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	372	TNase-like 3.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						ACCTGTCCAGCATCCGACCAC	0.502													T	127361418	C	T	127361418	2	4	27	1	0	0	0	0	0	0	0	1	14844	709	25	2		2	SND1	7	127361418	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	122784	127361418	31777245	3820	27771											
SND1	27044	broad.mit.edu	37	chr7	127731895	127731895	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctcgtccctccagatcacaGaatacctgaatgcccaagag	7	14	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:127731895G>A	uc003vmi.2	+	23	2855	c.2629G>A	c.(2629-2631)GAA>AAA	p.E877K	SND1_uc010lle.2_Missense_Mutation_p.E530K	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	877					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						CCAGATCACAGAATACCTGAA	0.413													A	127731895	G	A	127731895	3	1	27	1	0	0	0	0	1	0	0	0	14844	943	33	4	2719	4	SND1	7	127731895	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	370477	127731895	31406768	3821	27772											
IMPDH1	3614	broad.mit.edu	37	chr7	128038643	128038643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggccaccagctcatcgCaatcattgacgataggcagc	10	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:128038643C>T	uc011kol.1	-	7	750	c.644G>A	c.(643-645)TGC>TAC	p.C215Y	IMPDH1_uc011kom.1_Missense_Mutation_p.C210Y|IMPDH1_uc003vmt.2_Missense_Mutation_p.C190Y|IMPDH1_uc003vmu.2_Missense_Mutation_p.C300Y|IMPDH1_uc003vmw.2_Missense_Mutation_p.C290Y|IMPDH1_uc011kon.1_Missense_Mutation_p.C267Y|IMPDH1_uc003vmv.2_Missense_Mutation_p.C264Y|IMPDH1_uc003vmx.2_Missense_Mutation_p.C223Y|IMPDH1_uc003vmy.2_Missense_Mutation_p.C231Y	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	inosine monophosphate dehydrogenase 1 isoform e	215	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			skin(2)|lung(1)|central_nervous_system(1)	4					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CAGCTCATCGCAATCATTGAC	0.552											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	128038643	C	T	128038643	3	4	27	1	0	0	0	0	1	0	0	0	7726	710	25	2	932	2	IMPDH1	7	128038643	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	306748	128038643	31100020	3822	27773											
CCDC136	64753	broad.mit.edu	37	chr7	128452045	128452045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccttctataaaaatgagCcttgagtcctacgggaagag	9	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:128452045C>T	uc003vnv.1	+	13	2587	c.2220C>T	c.(2218-2220)AGC>AGT	p.S740S	CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Silent_p.S556S|CCDC136_uc010llq.1_Silent_p.S109S|CCDC136_uc003vny.1_Silent_p.S350S	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	740						integral to membrane	protein binding			ovary(2)	2						TAAAAATGAGCCTTGAGTCCT	0.507													T	128452045	C	T	128452045	2	4	27	1	0	0	0	0	0	0	0	1	2770	738	26	2		2	CCDC136	7	128452045	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	413402	128452045	30686618	3823	27774											
FLNC	2318	broad.mit.edu	37	chr7	128470877	128470877	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgaccgacctgcagcgCgacctcagcgacgggctccg	13	18	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:128470877C>T	uc003vnz.3	+	1	395	c.186C>T	c.(184-186)CGC>CGT	p.R62R	FLNC_uc003voa.3_Silent_p.R62R	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	62	CH 1.|Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						ACCTGCAGCGCGACCTCAGCG	0.637													T	128470877	C	T	128470877	2	4	27	1	0	0	0	0	0	0	0	1	5935	755	27	1		1	FLNC	7	128470877	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	18832	128470877	30667786	3824	27775											
FLNC	2318	broad.mit.edu	37	chr7	128478072	128478072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaacaatgacaaggatcGcacctatgctgtctcctatg	7	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:128478072G>A	uc003vnz.3	+	6	1210	c.1001G>A	c.(1000-1002)CGC>CAC	p.R334H	FLNC_uc003voa.3_Missense_Mutation_p.R334H	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	334	Filamin 1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GACAAGGATCGCACCTATGCT	0.542													A	128478072	G	A	128478072	3	1	27	1	0	0	0	0	1	0	0	0	5935	1087	38	1	1023	1	FLNC	7	128478072	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	7195	128478072	30660591	3825	27776											
TNPO3	23534	broad.mit.edu	37	chr7	128610202	128610202	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcatgaaaacaatcttacCggtctgtcaacctgcatgat	6	12	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:128610202C>T	uc003vol.1	-	20	2972	c.2598G>A	c.(2596-2598)CCG>CCA	p.P866P	TNPO3_uc010llx.1_Silent_p.P277P|TNPO3_uc003vom.1_Silent_p.P800P|TNPO3_uc010lly.1_Silent_p.P900P|TNPO3_uc010llz.1_Silent_p.P802P	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	transportin 3	866					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			ovary(2)|skin(2)|lung(1)	5						ACAATCTTACCGGTCTGTCAA	0.468													T	128610202	C	T	128610202	2	4	27	1	0	0	0	0	0	0	0	1	16334	666	23	1		1	TNPO3	7	128610202	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	132130	128610202	30528461	3826	27777											
TSPAN33	340348	broad.mit.edu	37	chr7	128804332	128804332	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggctcgagggaaagtgagTgagatcatcaacaatgccat	12	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:128804332T>C	uc003vop.1	+	5	610	c.381T>C	c.(379-381)AGT>AGC	p.S127S	TSPAN33_uc003voq.1_5'Flank	NM_178562	NP_848657	Q86UF1	TSN33_HUMAN	tetraspanin 33	127	Extracellular (Potential).					integral to membrane				ovary(1)	1						GGAAAGTGAGTGAGATCATCA	0.483											OREG0018304	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	128804332	T	C	128804332	2	2	27	1	0	0	0	0	0	0	0	1	16645	1693	59	3		3	TSPAN33	7	128804332	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	194130	128804332	30334331	3827	27778											
SMO	6608	broad.mit.edu	37	chr7	128843398	128843398	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggcctgacttcctgcgcTgcactcctgaccgcttccct	9	18	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:128843398T>G	uc003vor.2	+	2	785	c.505T>G	c.(505-507)TGC>GGC	p.C169G		NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	169	FZ.|Extracellular (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						CTTCCTGCGCTGCACTCCTGA	0.667			Mis		skin basal cell 								G	128843398	T	G	128843398	3	3	27	1	0	0	0	0	1	0	0	0	14800	1580	55	5	511	5	SMO	7	128843398	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	39066	128843398	30295265	3828	27779											
FAM40B	57464	broad.mit.edu	37	chr7	129122759	129122759	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggccatgctgcaactttatgTcctaaagctactaaagttac	7	10	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:129122759T>A	uc011koy.1	+	20	2166	c.2126T>A	c.(2125-2127)GTC>GAC	p.V709D	FAM40B_uc003vow.2_Missense_Mutation_p.V709D|FAM40B_uc011koz.1_Missense_Mutation_p.V201D	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	709											0						CAACTTTATGTCCTAAAGCTA	0.483													A	129122759	T	A	129122759	3	1	27	1	0	0	0	0	1	0	0	0	5561	1667	58	5	2204	5	FAM40B	7	129122759	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	279361	129122759	30015904	3829	27780											
FAM40B	57464	broad.mit.edu	37	chr7	129122851	129122851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccatttaccagaaagtgCgtcaccgcatgaacgatgac	9	12	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:129122851C>T	uc011koy.1	+	20	2258	c.2218C>T	c.(2218-2220)CGT>TGT	p.R740C	FAM40B_uc003vow.2_Missense_Mutation_p.R740C|FAM40B_uc011koz.1_Missense_Mutation_p.R232C	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	740											0						CCAGAAAGTGCGTCACCGCAT	0.448													T	129122851	C	T	129122851	3	4	27	1	0	0	0	0	1	0	0	0	5561	768	27	1	2296	1	FAM40B	7	129122851	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	92	129122851	30015812	3830	27781											
MKLN1	4289	broad.mit.edu	37	chr7	131113829	131113829	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctgggatggaacacaAgatcttgctgacttctgggc	15	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:131113829A>G	uc011kpm.1	+	9	949	c.885A>G	c.(883-885)CAA>CAG	p.Q295Q	MKLN1_uc011kpl.1_Silent_p.Q272Q|MKLN1_uc010lmh.2_Silent_p.Q295Q|MKLN1_uc003vqs.2_Silent_p.Q88Q	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing	295	Kelch 1.				signal transduction	cytoplasm	protein binding			breast(1)	1	Melanoma(18;0.162)					ATGGAACACAAGATCTTGCTG	0.388													G	131113829	A	G	131113829	2	3	27	1	0	0	0	0	0	0	0	1	9603	69	3	3		3	MKLN1	7	131113829	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1990978	131113829	28024834	3831	27782											
PLXNA4	91584	broad.mit.edu	37	chr7	131883351	131883351	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaggttctcccctcggatAgtgaccttggtgcccccttc	9	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:131883351A>C	uc003vra.3	-	13	2860	c.2631T>G	c.(2629-2631)ACT>ACG	p.T877T		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	877	IPT/TIG 1.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						CCCCTCGGATAGTGACCTTGG	0.557													C	131883351	A	C	131883351	2	2	27	1	0	0	0	0	0	0	0	1	12122	407	15	5		5	PLXNA4	7	131883351	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	769522	131883351	27255312	3832	27783											
PLXNA4	91584	broad.mit.edu	37	chr7	131982870	131982870	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctctctgacatgatgtAgagttgctcgtggtccttgg	12	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:131982870A>G	uc003vra.3	-	4	1712	c.1483T>C	c.(1483-1485)TAC>CAC	p.Y495H		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	495	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GACATGATGTAGAGTTGCTCG	0.572													G	131982870	A	G	131982870	3	3	27	1	0	0	0	0	1	0	0	0	12122	420	15	3	4317	3	PLXNA4	7	131982870	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	99519	131982870	27155793	3833	27784											
PLXNA4	91584	broad.mit.edu	37	chr7	132192892	132192892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgggcttcccatccactgcCgtggcaatgaacagcttgtc	10	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:132192892C>T	uc003vra.3	-	2	790	c.561G>A	c.(559-561)ACG>ACA	p.T187T	PLXNA4_uc003vrc.2_Silent_p.T187T|PLXNA4_uc003vrb.2_Silent_p.T187T	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	187	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						CATCCACTGCCGTGGCAATGA	0.527													T	132192892	C	T	132192892	2	4	27	1	0	0	0	0	0	0	0	1	12122	639	23	1		1	PLXNA4	7	132192892	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	210022	132192892	26945771	3834	27785											
PLXNA4	91584	broad.mit.edu	37	chr7	132192943	132192944	+	Frame_Shift_Ins	INS	-	-	A													tgtaggagacgatcactccaINSaagactgagccgctctcgtt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:132192942_132192943C>CA	uc003vra.4	-	1	739_740	c.510_511G>TG	c.(508-513)tttggafs	p.F170fs	PLXNA4_uc003vrc.2_Frame_Shift_Ins_p.F170fs|PLXNA4_uc003vrb.3_Frame_Shift_Ins_p.F170fs	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	170	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACGATCACTCCAAAGACTGAGC	0.54													A	132192944	-	A	132192943	7	5	27	1	0	1	1	0	0	0	0	0	12122	127	5	0	5612	0	PLXNA4	7	132192943	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	51	132192943	26945720	3835	27786											
EXOC4	60412	broad.mit.edu	37	chr7	132959843	132959843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatgaattgattgtacagCactacacagaattgacgaca	9	7	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:132959843C>T	uc003vrk.2	+	2	228	c.193C>T	c.(193-195)CAC>TAC	p.H65Y	EXOC4_uc011kpo.1_5'UTR|EXOC4_uc003vri.2_Missense_Mutation_p.H65Y|EXOC4_uc003vrj.2_Missense_Mutation_p.H65Y	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	65	Potential.				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				GATTGTACAGCACTACACAGA	0.458													T	132959843	C	T	132959843	3	4	27	1	0	0	0	0	1	0	0	0	5306	710	25	2	199	2	EXOC4	7	132959843	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	766900	132959843	26178820	3836	27787											
EXOC4	60412	broad.mit.edu	37	chr7	133002097	133002097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacaaacctccctactcctcGaaaattccttgatacctctc	2	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:133002097G>A	uc003vrk.2	+	5	751	c.716G>A	c.(715-717)CGA>CAA	p.R239Q	EXOC4_uc011kpo.1_Missense_Mutation_p.R138Q|EXOC4_uc003vri.2_Missense_Mutation_p.R239Q|EXOC4_uc003vrj.2_Missense_Mutation_p.R239Q	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	239					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				CCTACTCCTCGAAAATTCCTT	0.403													A	133002097	G	A	133002097	3	1	27	1	0	0	0	0	1	0	0	0	5306	1058	37	1	734	1	EXOC4	7	133002097	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	42254	133002097	26136566	3837	27788											
AKR1B1	231	broad.mit.edu	37	chr7	134133174	134133174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccgagggggctgtaggcGgtcaccacgatgcctttgga	17	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:134133174G>A	uc003vrp.1	-	6	698	c.624C>T	c.(622-624)ACC>ACT	p.T208T	AKR1B1_uc003vrq.1_RNA	NM_001628	NP_001619	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1	208					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			ovary(3)	3					NADH(DB00157)|Sulindac(DB00605)	GGCTGTAGGCGGTCACCACGA	0.512													A	134133174	G	A	134133174	2	1	27	1	0	0	0	0	0	0	0	1	466	1103	39	1		1	AKR1B1	7	134133174	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1131077	134133174	25005489	3838	27789											
AKR1B10	57016	broad.mit.edu	37	chr7	134221503	134221503	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacaaacctggactgaaAtataaaccagtgactaacca	6	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:134221503A>G	uc003vrr.2	+	5	851	c.531A>G	c.(529-531)AAA>AAG	p.K177K		NM_020299	NP_064695	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10	177					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			skin(5)	5						CTGGACTGAAATATAAACCAG	0.463													G	134221503	A	G	134221503	2	3	27	1	0	0	0	0	0	0	0	1	467	98	4	3		3	AKR1B10	7	134221503	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	88329	134221503	24917160	3839	27790											
BPGM	669	broad.mit.edu	37	chr7	134346583	134346583	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatggctttgaatcatggTgaagaacaagtgaggctctg	13	6	2	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:134346583T>C	uc003vrv.2	+	3	865	c.324T>C	c.(322-324)GGT>GGC	p.G108G	BPGM_uc003vrw.2_Silent_p.G108G|BPGM_uc003vrx.2_Silent_p.G108G	NM_199186	NP_954655	P07738	PMGE_HUMAN	bisphosphoglycerate mutase	108					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity				0						TGAATCATGGTGAAGAACAAG	0.517													C	134346583	T	C	134346583	2	2	27	1	0	0	0	0	0	0	0	1	1488	1683	59	3		3	BPGM	7	134346583	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	125080	134346583	24792080	3840	27791											
CNOT4	4850	broad.mit.edu	37	chr7	135098336	135098336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattctttaagaagtaactGcagtattttgttgtacctag	7	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:135098336G>A	uc003vsv.1	-	6	895	c.588C>T	c.(586-588)TGC>TGT	p.C196C	CNOT4_uc003vss.2_Silent_p.C196C|CNOT4_uc011kpz.1_Silent_p.C196C|CNOT4_uc003vst.2_Silent_p.C196C|CNOT4_uc003vsu.1_Silent_p.C196C|CNOT4_uc011kpy.1_Silent_p.C196C	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	196	C3H1-type.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding				0						AGAAGTAACTGCAGTATTTTG	0.428													A	135098336	G	A	135098336	2	1	27	1	0	0	0	0	0	0	0	1	3621	1311	46	2		2	CNOT4	7	135098336	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	751753	135098336	24040327	3841	27792											
NUP205	23165	broad.mit.edu	37	chr7	135292081	135292081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaacaggcccagtggcgGtgcgagaatctcctcagctg	15	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:135292081G>A	uc003vsw.2	+	22	3188	c.3157G>A	c.(3157-3159)GTG>ATG	p.V1053M		NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1053					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						CCCAGTGGCGGTGCGAGAATC	0.498													A	135292081	G	A	135292081	3	1	27	1	0	0	0	0	1	0	0	0	10759	1261	44	4	3243	4	NUP205	7	135292081	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	193745	135292081	23846582	3842	27793											
NUP205	23165	broad.mit.edu	37	chr7	135304309	135304309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccagcagaggcccattacGcttttatgcttgatagttgc	10	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:135304309G>A	uc003vsw.2	+	29	4133	c.4102G>A	c.(4102-4104)GCT>ACT	p.A1368T	NUP205_uc003vsx.2_5'Flank	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1368					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						GGCCCATTACGCTTTTATGCT	0.488													A	135304309	G	A	135304309	3	1	27	1	0	0	0	0	1	0	0	0	10759	1087	38	1	4216	1	NUP205	7	135304309	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	12228	135304309	23834354	3843	27794											
NUP205	23165	broad.mit.edu	37	chr7	135309918	135309918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattcttccttcagatgctgGccctggctctacttgataga	8	11	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:135309918G>A	uc003vsw.2	+	32	4517	c.4486G>A	c.(4486-4488)GCC>ACC	p.A1496T	NUP205_uc003vsx.2_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1496					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						TCAGATGCTGGCCCTGGCTCT	0.388													A	135309918	G	A	135309918	3	1	27	1	0	0	0	0	1	0	0	0	10759	1203	42	2	4612	2	NUP205	7	135309918	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5609	135309918	23828745	3844	27795											
NUP205	23165	broad.mit.edu	37	chr7	135333207	135333207	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actacaaaagaaacttctggAcattgaaggattatattcaa	6	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:135333207A>T	uc003vsw.2	+	43	5973	c.5942A>T	c.(5941-5943)GAC>GTC	p.D1981V	NUP205_uc003vsx.2_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1981					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						AAACTTCTGGACATTGAAGGA	0.393													T	135333207	A	T	135333207	3	4	27	1	0	0	0	0	1	0	0	0	10759	275	10	5	6112	5	NUP205	7	135333207	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	23289	135333207	23805456	3845	27796											
SLC13A4	26266	broad.mit.edu	37	chr7	135392908	135392908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccatgcgcagagcaatgcGcttatgcaggttccacttct	10	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:135392908G>A	uc003vta.2	-	3	1008	c.319C>T	c.(319-321)CGC>TGC	p.R107C	SLC13A4_uc003vtb.2_Missense_Mutation_p.R107C|SLC13A4_uc003vtc.1_Missense_Mutation_p.R107C	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate	107						integral to plasma membrane	sodium:sulfate symporter activity				0						AGAGCAATGCGCTTATGCAGG	0.592													A	135392908	G	A	135392908	3	1	27	1	0	0	0	0	1	0	0	0	14394	1087	38	1	1617	1	SLC13A4	7	135392908	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	59701	135392908	23745755	3846	27797											
DGKI	9162	broad.mit.edu	37	chr7	137282651	137282651	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtactttcctatacaattcaAgcctgtagaggaaatagaag	8	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:137282651A>C	uc003vtt.2	-	12	1254	c.1253T>G	c.(1252-1254)CTT>CGT	p.L418R	DGKI_uc003vtu.2_Missense_Mutation_p.L118R	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	418	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						ATACAATTCAAGCCTGTAGAG	0.458													C	137282651	A	C	137282651	3	2	27	1	0	0	0	0	1	0	0	0	4471	72	3	5	2036	5	DGKI	7	137282651	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1889743	137282651	21856012	3847	27798											
CREB3L2	64764	broad.mit.edu	37	chr7	137590509	137590509	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctgattttgacaggggcAatttggtggggatgggatag	16	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:137590509A>G	uc003vtw.2	-	6	1249	c.854T>C	c.(853-855)TTG>TCG	p.L285S	CREB3L2_uc003vtx.1_Missense_Mutation_p.L285S|CREB3L2_uc003vtv.2_Missense_Mutation_p.L222S	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like	285	Cytoplasmic (Potential).				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160						TGACAGGGGCAATTTGGTGGG	0.522			T	FUS	fibromyxoid sarcoma								G	137590509	A	G	137590509	3	3	27	1	0	0	0	0	1	0	0	0	3857	131	5	3	736	3	CREB3L2	7	137590509	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	307858	137590509	21548154	3848	27799											
AKR1D1	6718	broad.mit.edu	37	chr7	137773399	137773399	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttgctattgacacagggtAccgacatattgatggggcct	13	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:137773399A>G	uc003vtz.2	+	2	215	c.146A>G	c.(145-147)TAC>TGC	p.Y49C	AKR1D1_uc011kqb.1_Missense_Mutation_p.Y49C|AKR1D1_uc011kqc.1_RNA|AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqe.1_Missense_Mutation_p.Y49C|AKR1D1_uc011kqf.1_Missense_Mutation_p.Y49C	NM_005989	NP_005980	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	49					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			skin(1)	1						GACACAGGGTACCGACATATT	0.493													G	137773399	A	G	137773399	3	3	27	1	0	0	0	0	1	0	0	0	473	391	14	3	152	3	AKR1D1	7	137773399	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	182890	137773399	21365264	3849	27800											
TRIM24	8805	broad.mit.edu	37	chr7	138210040	138210040	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgatcatagatacactAatcaccaaactgatggaaaa	6	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:138210040A>G	uc003vuc.2	+	5	1034	c.819A>G	c.(817-819)CTA>CTG	p.L273L	TRIM24_uc003vub.2_Silent_p.L273L	NM_015905	NP_056989	O15164	TIF1A_HUMAN	transcriptional intermediary factor 1 alpha	273					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						TAGATACACTAATCACCAAAC	0.249													G	138210040	A	G	138210040	2	3	27	1	0	0	0	0	0	0	0	1	16495	349	13	3		3	TRIM24	7	138210040	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	436641	138210040	20928623	3850	27801											
SVOPL	136306	broad.mit.edu	37	chr7	138312996	138312997	+	Frame_Shift_Ins	INS	-	-	C													ctctggctctcccctgagtcINSccccccagtcaccaccaccg					rs79662895		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:138312995_138312996T>TC	uc011kqh.2	-	9	976_977	c.976_977A>GA	c.(976-978)gacfs	p.D326fs	SVOPL_uc003vue.3_Frame_Shift_Ins_p.D174fs	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	326						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTCCCCTGAGTCCCCCCCAGTC	0.554													C	138312997	-	C	138312996	7	5	27	1	0	1	1	0	0	0	0	0	15421	855	30	0	526	0	SVOPL	7	138312996	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	102956	138312996	20825667	3851	27802											
KIAA1549	57670	broad.mit.edu	37	chr7	138556002	138556002	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggcgataagctggatcttActggggacccgccggctagc	14	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:138556002A>G	uc011kql.1	-	13	4501	c.4452T>C	c.(4450-4452)AGT>AGC	p.S1484S	KIAA1549_uc011kqi.1_Silent_p.S268S|KIAA1549_uc003vuk.3_Silent_p.S1434S|KIAA1549_uc011kqj.1_Silent_p.S1484S|KIAA1549_uc011kqk.1_Silent_p.S268S	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1484						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						GCTGGATCTTACTGGGGACCC	0.627			O	BRAF	pilocytic astrocytoma								G	138556002	A	G	138556002	2	3	27	1	0	0	0	0	0	0	0	1	8244	388	14	3		3	KIAA1549	7	138556002	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	243006	138556002	20582661	3852	27803											
KIAA1549	57670	broad.mit.edu	37	chr7	138603255	138603255	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgaaacatcagttggtgAagcagaggacgcaaatgcaa	12	6	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:138603255A>G	uc011kql.1	-	2	1166	c.1117T>C	c.(1117-1119)TCA>CCA	p.S373P	KIAA1549_uc003vuk.3_Missense_Mutation_p.S323P|KIAA1549_uc011kqj.1_Missense_Mutation_p.S373P	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	373						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						TCAGTTGGTGAAGCAGAGGAC	0.507			O	BRAF	pilocytic astrocytoma								G	138603255	A	G	138603255	3	3	27	1	0	0	0	0	1	0	0	0	8244	246	9	3	4811	3	KIAA1549	7	138603255	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	47253	138603255	20535408	3853	27804											
KIAA1549	57670	broad.mit.edu	37	chr7	138603418	138603418	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatcagtgtatctgtctgcActtgtggcccaaacctcctc	7	14	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:138603418A>G	uc011kql.1	-	2	1003	c.954T>C	c.(952-954)AGT>AGC	p.S318S	KIAA1549_uc003vuk.3_Silent_p.S268S|KIAA1549_uc011kqj.1_Silent_p.S318S	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	318						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						ATCTGTCTGCACTTGTGGCCC	0.547			O	BRAF	pilocytic astrocytoma								G	138603418	A	G	138603418	2	3	27	1	0	0	0	0	0	0	0	1	8244	156	6	3		3	KIAA1549	7	138603418	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	163	138603418	20535245	3854	27805											
KIAA1549	57670	broad.mit.edu	37	chr7	138603691	138603691	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaccgaaaggtgtggaaatgActggcggactcagcatatgc	14	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:138603691A>T	uc011kql.1	-	2	730	c.681T>A	c.(679-681)AGT>AGA	p.S227R	KIAA1549_uc003vuk.3_Missense_Mutation_p.S177R|KIAA1549_uc011kqj.1_Missense_Mutation_p.S227R	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	227						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						TGTGGAAATGACTGGCGGACT	0.493			O	BRAF	pilocytic astrocytoma								T	138603691	A	T	138603691	3	4	27	1	0	0	0	0	1	0	0	0	8244	272	10	5	5247	5	KIAA1549	7	138603691	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	273	138603691	20534972	3855	27806											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138764925	138764925	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaattcttggctgccctgAaagaaccgatctctactctt	7	11	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:138764925A>G	uc003vun.2	-	4	1150	c.762T>C	c.(760-762)TTT>TTC	p.F254F	ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Silent_p.F254F	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	zinc finger antiviral protein isoform 1	254	Binding to EXOSC5 (By similarity).				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1						GGCTGCCCTGAAAGAACCGAT	0.478													G	138764925	A	G	138764925	2	3	27	1	0	0	0	0	0	0	0	1	17572	243	9	3		3	ZC3HAV1	7	138764925	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	161234	138764925	20373738	3856	27807											
UBN2	254048	broad.mit.edu	37	chr7	138968607	138968607	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaccgccttcccttatctAccccctcacctggaaatggt	6	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:138968607A>G	uc011kqr.1	+	15	2956	c.2956A>G	c.(2956-2958)ACC>GCC	p.T986A		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	986	Ser-rich.									ovary(1)|skin(1)	2						TCCCTTATCTACCCCCTCACC	0.483													G	138968607	A	G	138968607	3	3	27	1	0	0	0	0	1	0	0	0	16890	391	14	3	3014	3	UBN2	7	138968607	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	203682	138968607	20170056	3857	27808											
KLRG2	346689	broad.mit.edu	37	chr7	139168212	139168212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgagggctccaggcctgcGcccgccgccttctccacggc	12	20	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:139168212G>A	uc003vvb.2	-	1	246	c.177C>T	c.(175-177)GGC>GGT	p.G59G	KLRG2_uc010lnc.2_Silent_p.G59G	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G,	59	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)	1	Melanoma(164;0.233)					CCAGGCCTGCGCCCGCCGCCT	0.736													A	139168212	G	A	139168212	2	1	27	1	0	0	0	0	0	0	0	1	8422	1074	38	1		1	KLRG2	7	139168212	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	199605	139168212	19970451	3858	27809											
HIPK2	28996	broad.mit.edu	37	chr7	139415909	139415909	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtttcatcagggctgtggCtacctgctggagaactgggc	15	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:139415909C>A	uc003vvf.3	-	2	1099	c.925G>T	c.(925-927)GCC>TCC	p.A309S	HIPK2_uc003vvd.3_Missense_Mutation_p.A309S	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	309	Protein kinase.|Interaction with DAXX.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					AGGGCTGTGGCTACCTGCTGG	0.478													A	139415909	C	A	139415909	3	1	27	1	0	0	0	0	1	0	0	0	7117	797	28	5	2727	5	HIPK2	7	139415909	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	247697	139415909	19722754	3859	27810											
JHDM1D	80853	broad.mit.edu	37	chr7	139826622	139826622	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacctccaccaattcagacaTcctttcaaaaaacaaacata	2	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:139826622T>A	uc003vvm.2	-	6	707	c.703A>T	c.(703-705)ATG>TTG	p.M235L		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	235	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)					AATTCAGACATCCTTTCAAAA	0.353													A	139826622	T	A	139826622	3	1	27	1	0	0	0	0	1	0	0	0	7948	1449	50	5	2182	5	JHDM1D	7	139826622	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	410713	139826622	19312041	3860	27811											
BRAF	673	broad.mit.edu	37	chr7	140439719	140439719	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttactgagatctggagacaGgtatcctcgtcccaccataa	8	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:140439719G>A	uc003vwc.3	-	17	2081	c.2020C>T	c.(2020-2022)CTG>TTG	p.L674L		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	674	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCTGGAGACAGGTATCCTCGT	0.373		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				A	140439719	G	A	140439719	2	1	27	1	0	0	0	0	0	0	0	1	1496	991	35	4		4	BRAF	7	140439719	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	613097	140439719	18698944	3861	27812											
AGK	55750	broad.mit.edu	37	chr7	141341172	141341172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaatattacgaaggcttgCgtcctactgggcacaaccac	10	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:141341172C>T	uc003vwi.2	+	12	1022	c.851C>T	c.(850-852)GCG>GTG	p.A284V	AGK_uc011krg.1_Intron	NM_018238	NP_060708	Q53H12	AGK_HUMAN	acylglycerol kinase precursor	284					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			ovary(1)|breast(1)	2	Melanoma(164;0.0171)					CGAAGGCTTGCGTCCTACTGG	0.498													T	141341172	C	T	141341172	3	4	27	1	0	0	0	0	1	0	0	0	383	768	27	1	893	1	AGK	7	141341172	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	901453	141341172	17797491	3862	27813											
WEE2	494551	broad.mit.edu	37	chr7	141422951	141422951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgggagtttgcaagctGctatatctgaaaacactaag	11	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:141422951G>A	uc003vwn.2	+	6	1304	c.898G>A	c.(898-900)GCT>ACT	p.A300T	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	300	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)					TTTGCAAGCTGCTATATCTGA	0.368													A	141422951	G	A	141422951	3	1	27	1	0	0	0	0	1	0	0	0	17342	1319	46	2	920	2	WEE2	7	141422951	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	81779	141422951	17715712	3863	27814											
TAS2R3	50831	broad.mit.edu	37	chr7	141464641	141464641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagatccaaccactgaggCccacaagagggccatcagaa	10	13	1	4	rs149980259		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:141464641C>T	uc003vwp.1	+	1	745	c.683C>T	c.(682-684)GCC>GTC	p.A228V		NM_016943	NP_058639	Q9NYW6	TA2R3_HUMAN	taste receptor T2R3	228	Cytoplasmic (Potential).				sensory perception of taste		taste receptor activity			central_nervous_system(1)	1	Melanoma(164;0.0171)					ACCACTGAGGCCCACAAGAGG	0.388													T	141464641	C	T	141464641	3	4	27	1	0	0	0	0	1	0	0	0	15569	739	26	2	685	2	TAS2R3	7	141464641	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	41690	141464641	17674022	3864	27815											
TAS2R4	50832	broad.mit.edu	37	chr7	141478688	141478688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagatccccaggctgctgCtggcctgtgtgctgatttct	11	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:141478688C>T	uc003vwq.1	+	1	400	c.400C>T	c.(400-402)CTG>TTG	p.L134L		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	taste receptor T2R4	134	Helical; Name=4; (Potential).				sensory perception of taste	cilium membrane	taste receptor activity				0	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		CAGGCTGCTGCTGGCCTGTGT	0.468													T	141478688	C	T	141478688	2	4	27	1	0	0	0	0	0	0	0	1	15574	796	28	2		2	TAS2R4	7	141478688	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	14047	141478688	17659975	3865	27816											
MGAM	8972	broad.mit.edu	37	chr7	141724940	141724940	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtttctgatgaacagcAatgccatgggtaaaggaata	13	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:141724940A>G	uc003vwy.2	+	8	1027	c.973A>G	c.(973-975)AAT>GAT	p.N325D		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	325	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GATGAACAGCAATGCCATGGG	0.408													G	141724940	A	G	141724940	3	3	27	1	0	0	0	0	1	0	0	0	9541	130	5	3	999	3	MGAM	7	141724940	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	246252	141724940	17413723	3866	27817											
MGAM	8972	broad.mit.edu	37	chr7	141765238	141765238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgggagacaacacggccGcatgggatcagctgaagaag	16	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:141765238G>A	uc003vwy.2	+	38	4642	c.4588G>A	c.(4588-4590)GCA>ACA	p.A1530T		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1530	Glucoamylase.|Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAACACGGCCGCATGGGATCA	0.617													A	141765238	G	A	141765238	3	1	27	1	0	0	0	0	1	0	0	0	9541	1087	38	1	4734	1	MGAM	7	141765238	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	40298	141765238	17373425	3867	27818											
EPHB6	2051	broad.mit.edu	37	chr7	142561448	142561448	+	Frame_Shift_Del	DEL	G	G	-													gctggctcacctacccaccaGggggggtgagtgccactcta							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:142561447_142561447AG>A	uc011kst.2	+	5	946	c.159_159AG>A	c.(157-159)ccafs	p.P53fs	EPHB6_uc011ksu.2_Frame_Shift_Del_p.P53fs|EPHB6_uc003wbs.3_Intron|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Intron	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	53						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCTACCCACCAGGGGGGGTGA	0.577													-	142561448	G	-	142561448	7	5	27	1	0	1	0	1	0	0	0	0	5178	1000	35	0	166	0	EPHB6	7	142561448	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	796210	142561448	16577215	3868	27819											
EPHB6	2051	broad.mit.edu	37	chr7	142562398	142562398	+	Frame_Shift_Del	DEL	C	C	-													gggggccaggcaggaggcagCccccccaggctgcactgcaa					rs145544148		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:142562397_142562397GC>G	uc011kst.2	+	6	1626	c.839_839GC>G	c.(838-840)agcfs	p.S280fs	EPHB6_uc011ksu.2_Frame_Shift_Del_p.S280fs|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	280	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.V279V(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCAGGAGGCAGCCCCCCCAGG	0.692													-	142562398	C	-	142562398	7	5	27	1	0	1	0	1	0	0	0	0	5178	738	26	0	850	0	EPHB6	7	142562398	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	950	142562398	16576265	3869	27820											
TRPV5	56302	broad.mit.edu	37	chr7	142611854	142611854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccatcagccagcagaaaCgcattaggtctccaaaaatc	7	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:142611854C>T	uc003wby.1	-	12	1739	c.1475G>A	c.(1474-1476)CGT>CAT	p.R492H		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	492	Cytoplasmic (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					CCAGCAGAAACGCATTAGGTC	0.468													T	142611854	C	T	142611854	3	4	27	1	0	0	0	0	1	0	0	0	16596	536	19	1	730	1	TRPV5	7	142611854	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	49456	142611854	16526809	3870	27821											
C7orf34	135927	broad.mit.edu	37	chr7	142637475	142637475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcgaagagcactttgtggCctcctcagtgggtgagatgt	14	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:142637475C>T	uc003wca.2	+	2	286	c.245C>T	c.(244-246)GCC>GTC	p.A82V		NM_178829	NP_849151	Q96L11	CG034_HUMAN	hypothetical protein LOC135927	57						extracellular region					0	Melanoma(164;0.059)					CACTTTGTGGCCTCCTCAGTG	0.547													T	142637475	C	T	142637475	3	4	27	1	0	0	0	0	1	0	0	0	2389	739	26	2	251	2	C7orf34	7	142637475	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	25621	142637475	16501188	3871	27822											
KEL	3792	broad.mit.edu	37	chr7	142638398	142638398	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accacgtgcacagcggaaatAcctggcaaaggctggggtgc	14	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:142638398A>G	uc003wcb.2	-	19	2350	c.2140T>C	c.(2140-2142)TAT>CAT	p.Y714H		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	714	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)					CAGCGGAAATACCTGGCAAAG	0.592													G	142638398	A	G	142638398	3	3	27	1	0	0	0	0	1	0	0	0	8142	391	14	3	62	3	KEL	7	142638398	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	923	142638398	16500265	3872	27823											
KEL	3792	broad.mit.edu	37	chr7	142640415	142640415	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgatgctgccagcagcGccaaagttcacggctctagg	12	13	2	1	rs145850557		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:142640415G>A	uc003wcb.2	-	16	1929	c.1719C>T	c.(1717-1719)GGC>GGT	p.G573G		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	573	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)					TGCCAGCAGCGCCAAAGTTCA	0.537													A	142640415	G	A	142640415	2	1	27	1	0	0	0	0	0	0	0	1	8142	1074	38	1		1	KEL	7	142640415	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2017	142640415	16498248	3873	27824											
TAS2R39	259285	broad.mit.edu	37	chr7	142881406	142881406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaataatttgtgccagatcAtcatggctgcctaccctgcc	9	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:142881406A>G	uc011ksw.1	+	1	895	c.895A>G	c.(895-897)ATC>GTC	p.I299V		NM_176881	NP_795362	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	299	Helical; Name=7; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			skin(1)	1	Melanoma(164;0.059)					GTGCCAGATCATCATGGCTGC	0.443													G	142881406	A	G	142881406	3	3	27	1	0	0	0	0	1	0	0	0	15573	217	8	3	897	3	TAS2R39	7	142881406	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	240991	142881406	16257257	3874	27825											
TAS2R40	259286	broad.mit.edu	37	chr7	142919425	142919425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattttcagtctgctattccGaattgtttataaccaaaact	4	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:142919425G>A	uc011ksx.1	+	1	254	c.254G>A	c.(253-255)CGA>CAA	p.R85Q		NM_176882	NP_795363	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	85	Extracellular (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(1)	1	Melanoma(164;0.059)					CTGCTATTCCGAATTGTTTAT	0.433													A	142919425	G	A	142919425	3	1	27	1	0	0	0	0	1	0	0	0	15575	1058	37	1	256	1	TAS2R40	7	142919425	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	38019	142919425	16219238	3875	27826											
CLCN1	1180	broad.mit.edu	37	chr7	143013357	143013357	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacaaagctggtggggtAgtgacccccagtaccagtat	13	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:143013357A>G	uc003wcr.1	+	1	139	c.52A>G	c.(52-54)AGT>GGT	p.S18G	CLCN1_uc011ktc.1_5'UTR	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	18	Cytoplasmic (By similarity).				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)					CTGGTGGGGTAGTGACCCCCA	0.632													G	143013357	A	G	143013357	3	3	27	1	0	0	0	0	1	0	0	0	3462	420	15	3	54	3	CLCN1	7	143013357	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	93932	143013357	16125306	3876	27827											
CLCN1	1180	broad.mit.edu	37	chr7	143039041	143039041	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagcagcgctgactggTgccgtttcccacacagtctc	12	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:143039041T>C	uc003wcr.1	+	15	1689	c.1602T>C	c.(1600-1602)GGT>GGC	p.G534G	CLCN1_uc011ktc.1_Silent_p.G146G	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	534					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)					CGCTGACTGGTGCCGTTTCCC	0.507													C	143039041	T	C	143039041	2	2	27	1	0	0	0	0	0	0	0	1	3462	1683	59	3		3	CLCN1	7	143039041	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	25684	143039041	16099622	3877	27828											
OR2A5	393046	broad.mit.edu	37	chr7	143747579	143747579	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcagatgctcctctctgggCttttctccctgttatacgtc	7	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:143747579C>A	uc011ktw.1	+	1	85	c.85C>A	c.(85-87)CTT>ATT	p.L29I		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0783)					CCTCTCTGGGCTTTTCTCCCT	0.507													A	143747579	C	A	143747579	3	1	27	1	0	0	0	0	1	0	0	0	10981	797	28	5	87	5	OR2A5	7	143747579	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	708538	143747579	15391084	3878	27829											
OR2A12	346525	broad.mit.edu	37	chr7	143792746	143792746	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttctgtcaaatcatgtcCgtattcaaattggcctgtgc	7	9	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:143792746C>A	uc011kty.1	+	1	546	c.546C>A	c.(544-546)TCC>TCA	p.S182S		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A,	182	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	Melanoma(164;0.0783)					AAATCATGTCCGTATTCAAAT	0.478													A	143792746	C	A	143792746	2	1	27	1	0	0	0	0	0	0	0	1	10975	639	23	5		5	OR2A12	7	143792746	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	45167	143792746	15345917	3879	27830											
TPK1	27010	broad.mit.edu	37	chr7	144150652	144150652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaggttagcttttgatggCcatggtccagaggagtgggt	15	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:144150652C>T	uc003weq.2	-	9	821	c.718G>A	c.(718-720)GCC>ACC	p.A240T	TPK1_uc003weo.2_Missense_Mutation_p.A186T|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.A191T|TPK1_uc003wes.2_RNA	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1 isoform a	240					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			ovary(2)	2					Thiamine(DB00152)	CTTTTGATGGCCATGGTCCAG	0.473													T	144150652	C	T	144150652	3	4	27	1	0	0	0	0	1	0	0	0	16401	739	26	2	17	2	TPK1	7	144150652	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	357906	144150652	14988011	3880	27831											
CNTNAP2	26047	broad.mit.edu	37	chr7	146805249	146805249	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttgttttaggggctgatgtTatcaactttgatggccatgt	11	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:146805249T>A	uc003weu.1	+	5	1077	c.561T>A	c.(559-561)GTT>GTA	p.V187V		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	187	Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGGCTGATGTTATCAACTTTG	0.333										HNSCC(39;0.1)			A	146805249	T	A	146805249	2	1	27	1	0	0	0	0	0	0	0	1	3647	1741	61	5		5	CNTNAP2	7	146805249	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2654597	146805249	12333414	3881	27832											
CNTNAP2	26047	broad.mit.edu	37	chr7	147844651	147844651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agattgtagtgaggtcaccaAcccctctcaacgatgaccag	9	12	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:147844651A>G	uc003weu.1	+	17	3139	c.2623A>G	c.(2623-2625)ACC>GCC	p.T875A		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	875	Laminin G-like 3.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GAGGTCACCAACCCCTCTCAA	0.542										HNSCC(39;0.1)			G	147844651	A	G	147844651	3	3	27	1	0	0	0	0	1	0	0	0	3647	43	2	3	2689	3	CNTNAP2	7	147844651	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1039402	147844651	11294012	3882	27833											
CUL1	8454	broad.mit.edu	37	chr7	148497652	148497652	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtggatggtgaaaaggAcacctacagttacttggctt	13	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:148497652A>G	uc010lpg.2	+	22	2835	c.2309A>G	c.(2308-2310)GAC>GGC	p.D770G	CUL1_uc003wey.2_Missense_Mutation_p.D770G|CUL1_uc003wez.2_Missense_Mutation_p.D660G|CUL1_uc003wfa.2_Missense_Mutation_p.D431G	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	770					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGTGAAAAGGACACCTACAGT	0.393													G	148497652	A	G	148497652	3	3	27	1	0	0	0	0	1	0	0	0	4054	275	10	3	2391	3	CUL1	7	148497652	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	653001	148497652	10641011	3883	27834											
EZH2	2146	broad.mit.edu	37	chr7	148525902	148525902	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtctccatcatcatcatcGtcatcatcattatattgacc	3	13	7	1	rs137864062		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:148525902G>A	uc003wfd.1	-	6	721	c.555C>T	c.(553-555)GAC>GAT	p.D185D	EZH2_uc011kug.1_Silent_p.D176D|EZH2_uc003wfb.1_Silent_p.D185D|EZH2_uc003wfc.1_Silent_p.D146D|EZH2_uc011kuh.1_Silent_p.D176D|EZH2_uc011kui.1_Silent_p.D185D|EZH2_uc011kuj.1_RNA	NM_004456	NP_004447	Q15910	EZH2_HUMAN	enhancer of zeste 2 isoform a	185	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			catcatcatcgtcatcatcat	0.348			Mis		DLBCL								A	148525902	G	A	148525902	2	1	27	1	0	0	0	0	0	0	0	1	5334	1136	40	1		1	EZH2	7	148525902	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	28250	148525902	10612761	3884	27835											
ZNF786	136051	broad.mit.edu	37	chr7	148769148	148769148	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgcacacgccacaccggaagTgcctctgtacccgagggctg	12	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:148769148T>A	uc003wfh.2	-	4	853	c.716A>T	c.(715-717)CAC>CTC	p.H239L	ZNF786_uc011kuk.1_Missense_Mutation_p.H202L|ZNF786_uc003wfi.2_Missense_Mutation_p.H153L	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACACCGGAAGTGCCTCTGTAC	0.652													A	148769148	T	A	148769148	3	1	27	1	0	0	0	0	1	0	0	0	18155	1696	59	5	1636	5	ZNF786	7	148769148	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	243246	148769148	10369515	3885	27836											
ZNF425	155054	broad.mit.edu	37	chr7	148800939	148800939	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagctgcccctgatgcagTagctcttgtcacactccgga	9	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:148800939T>C	uc003wfj.2	-	4	2097	c.2024A>G	c.(2023-2025)TAC>TGC	p.Y675C		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	675	C2H2-type 17.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCTGATGCAGTAGCTCTTGTC	0.547													C	148800939	T	C	148800939	3	2	27	1	0	0	0	0	1	0	0	0	17896	1638	57	3	238	3	ZNF425	7	148800939	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	31791	148800939	10337724	3886	27837											
ZNF282	8427	broad.mit.edu	37	chr7	148895675	148895675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggccgactgtgaaaagaCggccgtggaatttgggaacc	15	9	0	2	rs139886507		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:148895675C>T	uc003wfm.2	+	2	521	c.416C>T	c.(415-417)ACG>ATG	p.T139M	ZNF282_uc011kun.1_Missense_Mutation_p.T139M|ZNF282_uc003wfn.2_Missense_Mutation_p.T79M|ZNF282_uc003wfo.2_Missense_Mutation_p.T79M	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	139					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		TGTGAAAAGACGGCCGTGGAA	0.642													T	148895675	C	T	148895675	3	4	27	1	0	0	0	0	1	0	0	0	17816	536	19	1	422	1	ZNF282	7	148895675	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	94736	148895675	10242988	3887	27838											
ZNF777	27153	broad.mit.edu	37	chr7	149129101	149129101	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggatgaagctcttgccgcaCtcggggcaggcgtgcggccg	17	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:149129101C>T	uc003wfv.2	-	6	2425	c.2262G>A	c.(2260-2262)GAG>GAA	p.E754E		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	Error:Variant_position_missing_in_Q9ULD5_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCTTGCCGCACTCGGGGCAGG	0.667													T	149129101	C	T	149129101	2	4	27	1	0	0	0	0	0	0	0	1	18147	564	20	4		4	ZNF777	7	149129101	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	233426	149129101	10009562	3888	27839											
ZNF777	27153	broad.mit.edu	37	chr7	149129387	149129387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgtagggccgctcacccGtgtgcgtgatctggtgtttg	15	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:149129387G>A	uc003wfv.2	-	6	2139	c.1976C>T	c.(1975-1977)ACG>ATG	p.T659M		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCGCTCACCCGTGTGCGTGAT	0.632													A	149129387	G	A	149129387	3	1	27	1	0	0	0	0	1	0	0	0	18147	1145	40	1	523	1	ZNF777	7	149129387	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	286	149129387	10009276	3889	27840											
ZNF777	27153	broad.mit.edu	37	chr7	149152807	149152807	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgggggtggatactgggTcccttcctgggaagccaggg	18	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:149152807T>C	uc003wfv.2	-	2	470	c.307A>G	c.(307-309)ACC>GCC	p.T103A		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGATACTGGGTCCCTTCCTGG	0.617													C	149152807	T	C	149152807	3	2	27	1	0	0	0	0	1	0	0	0	18147	1667	58	3	2208	3	ZNF777	7	149152807	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	23420	149152807	9985856	3890	27841											
ZNF467	168544	broad.mit.edu	37	chr7	149467579	149467579	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagaagaggacatctgctccTgggcattatgggatccttcc	11	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:149467579T>C	uc003wgd.2	-	3	242	c.101A>G	c.(100-102)CAG>CGG	p.Q34R	ZNF467_uc003wgc.2_Missense_Mutation_p.Q34R	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CATCTGCTCCTGGGCATTATG	0.537													C	149467579	T	C	149467579	3	2	27	1	0	0	0	0	1	0	0	0	17924	1580	55	3	1698	3	ZNF467	7	149467579	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	314772	149467579	9671084	3891	27842											
ZNF467	168544	broad.mit.edu	37	chr7	149468102	149468102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcacccagggagctgaggGcctccaaggtctctctcatg	12	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:149468102G>A	uc003wgd.2	-	2	161	c.20C>T	c.(19-21)GCC>GTC	p.A7V	ZNF467_uc003wgc.2_Missense_Mutation_p.A7V	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAGCTGAGGGCCTCCAAGGT	0.542													A	149468102	G	A	149468102	3	1	27	1	0	0	0	0	1	0	0	0	17924	1203	42	2	1783	2	ZNF467	7	149468102	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	523	149468102	9670561	3892	27843											
SSPO	23145	broad.mit.edu	37	chr7	149516491	149516491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccgcagctgcggagtggGccagcagcgccgcctgcggg	17	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:149516491G>A	uc010lpk.2	+	85	11894	c.11894G>A	c.(11893-11895)GGC>GAC	p.G3965D	SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3965	TSP type-1 17.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCGGAGTGGGCCAGCAGCGC	0.701													A	149516491	G	A	149516491	3	1	27	1	0	0	0	0	1	0	0	0	15188	1203	42	2	12222	2	SSPO	7	149516491	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	48389	149516491	9622172	3893	27844											
SSPO	23145	broad.mit.edu	37	chr7	149529972	149529972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagagcccgtggtgctgcCggtcatccacagctgccagt	12	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:149529972C>T	uc010lpk.2	+	111	15386	c.15386C>T	c.(15385-15387)CCG>CTG	p.P5129L	SSPO_uc003wgh.2_RNA	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	5129	CTCK.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGGTGCTGCCGGTCATCCAC	0.662													T	149529972	C	T	149529972	3	4	27	1	0	0	0	0	1	0	0	0	15188	652	23	1	15811	1	SSPO	7	149529972	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	13481	149529972	9608691	3894	27845											
ZNF862	643641	broad.mit.edu	37	chr7	149557749	149557749	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctaatctccatgataaatcAtctcggttagtcagaggtta	7	9	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:149557749A>G	uc010lpn.2	+	7	1692	c.1500A>G	c.(1498-1500)TCA>TCG	p.S500S	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	500	TTF-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						ATGATAAATCATCTCGGTTAG	0.453													G	149557749	A	G	149557749	2	3	27	1	0	0	0	0	0	0	0	1	18192	204	8	3		3	ZNF862	7	149557749	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	27777	149557749	9580914	3895	27846											
GIMAP8	155038	broad.mit.edu	37	chr7	150174507	150174507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggacaaaacagctgtggCgaaactggaggccatctttg	13	8	1	1	rs146125013		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:150174507C>T	uc003whj.2	+	5	1967	c.1637C>T	c.(1636-1638)GCG>GTG	p.A546V		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	546						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		ACAGCTGTGGCGAAACTGGAG	0.502													T	150174507	C	T	150174507	3	4	27	1	0	0	0	0	1	0	0	0	6385	768	27	1	1651	1	GIMAP8	7	150174507	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	616758	150174507	8964156	3896	27847											
GIMAP7	168537	broad.mit.edu	37	chr7	150217889	150217889	+	Frame_Shift_Del	DEL	T	T	-													gagaaatatatttaaagatgTttttaataggatttggaaga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:150217888_150217888GT>G	uc003whk.3	+	1	956	c.826_826GT>G	c.(826-828)gttfs	p.V276fs	GIMAP7_uc022apu.1_Frame_Shift_Del_p.V276fs	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	276							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATTTAAAGATGTTTTTAATAG	0.249													-	150217889	T	-	150217889	7	5	27	1	0	1	0	1	0	0	0	0	6384	1725	60	0	829	0	GIMAP7	7	150217889	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	43382	150217889	8920774	3897	27848											
ABP1	26	broad.mit.edu	37	chr7	150553893	150553893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggagcatcccaatgtcaCcgagtttgctgtggggcccc	12	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:150553893C>T	uc003why.1	+	3	4553	c.335C>T	c.(334-336)ACC>ATC	p.T112I	ABP1_uc003whz.1_Missense_Mutation_p.T112I|ABP1_uc003wia.1_Missense_Mutation_p.T112I	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	112					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CCCAATGTCACCGAGTTTGCT	0.597													T	150553893	C	T	150553893	3	4	27	1	0	0	0	0	1	0	0	0	98	507	18	4	337	4	ABP1	7	150553893	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	336004	150553893	8584770	3898	27849											
ABP1	26	broad.mit.edu	37	chr7	150553979	150553979	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagtcctcctgggcatcgAggcccatctccacagcagag	10	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:150553979A>G	uc003why.1	+	3	4639	c.421A>G	c.(421-423)AGG>GGG	p.R141G	ABP1_uc003whz.1_Missense_Mutation_p.R141G|ABP1_uc003wia.1_Missense_Mutation_p.R141G	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	141					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CTGGGCATCGAGGCCCATCTC	0.607													G	150553979	A	G	150553979	3	3	27	1	0	0	0	0	1	0	0	0	98	295	11	3	423	3	ABP1	7	150553979	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	86	150553979	8584684	3899	27850											
ABP1	26	broad.mit.edu	37	chr7	150554819	150554819	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccctctgcctctttgaaAtgcccacaggggtgcccctt	10	15	2	1	rs67761274		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:150554819A>G	uc003why.1	+	3	5479	c.1261A>G	c.(1261-1263)ATG>GTG	p.M421V	ABP1_uc003whz.1_Missense_Mutation_p.M421V|ABP1_uc003wia.1_Missense_Mutation_p.M421V	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	421					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CCTCTTTGAAATGCCCACAGG	0.587													G	150554819	A	G	150554819	3	3	27	1	0	0	0	0	1	0	0	0	98	101	4	3	1263	3	ABP1	7	150554819	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	840	150554819	8583844	3900	27851											
ABP1	26	broad.mit.edu	37	chr7	150555934	150555934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagacaccgcgtggtccagCcaactctggagcagacgcag	12	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:150555934C>T	uc003why.1	+	4	5872	c.1654C>T	c.(1654-1656)CCA>TCA	p.P552S	ABP1_uc003whz.1_Missense_Mutation_p.P552S|ABP1_uc003wia.1_Missense_Mutation_p.P552S	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	552					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CGTGGTCCAGCCAACTCTGGA	0.577													T	150555934	C	T	150555934	3	4	27	1	0	0	0	0	1	0	0	0	98	739	26	2	1660	2	ABP1	7	150555934	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1115	150555934	8582729	3901	27852											
ATG9B	285973	broad.mit.edu	37	chr7	150715789	150715789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgtcctcgtcgtagacggTgagcacaagcagcgcggcga	14	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:150715789T>C	uc011kvc.1	-	6	1712	c.1636A>G	c.(1636-1638)ACC>GCC	p.T546A	ATG9B_uc003wig.3_Intron	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	ATG9 autophagy related 9 homolog B	546	Helical; (Potential).				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				ovary(1)	1	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGTAGACGGTGAGCACAAGC	0.716													C	150715789	T	C	150715789	3	2	27	1	0	0	0	0	1	0	0	0	1103	1696	59	3	1169	3	ATG9B	7	150715789	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	159855	150715789	8422874	3902	27853											
CHPF2	54480	broad.mit.edu	37	chr7	150932145	150932145	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttccacaggactcggtacaTccagacagagctgggctccc	10	14	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:150932145T>A	uc003wjr.1	+	2	1788	c.275T>A	c.(274-276)ATC>AAC	p.I92N	CHPF2_uc003wjq.1_Missense_Mutation_p.I84N	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	92	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1						ACTCGGTACATCCAGACAGAG	0.567													A	150932145	T	A	150932145	3	1	27	1	0	0	0	0	1	0	0	0	3369	1435	50	5	281	5	CHPF2	7	150932145	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	216356	150932145	8206518	3903	27854											
CHPF2	54480	broad.mit.edu	37	chr7	150935383	150935384	+	Frame_Shift_Ins	INS	-	-	C													ccccgggggctggccctgacINScccccctcccctcctggtgc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:150935382_150935383A>AC	uc003wjr.1	+	3	3447_3448	c.1934_1935A>AC	c.(1933-1935)gacfs	p.D645fs	CHPF2_uc003wjq.1_Frame_Shift_Ins_p.D637fs|CHPF2_uc022aqb.1_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	645	Gly/Pro-rich.					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GCTGGCCCTGACCCCCCCTCCC	0.649													C	150935384	-	C	150935383	7	5	27	1	0	1	1	0	0	0	0	0	3369	506	18	0	1949	0	CHPF2	7	150935383	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	3238	150935383	8203280	3904	27855											
NUB1	51667	broad.mit.edu	37	chr7	151049913	151049913	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacagaatagctgaaaccttTggacttcaagaaaattatat	6	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:151049913T>C	uc003wjx.2	+	5	437	c.432T>C	c.(430-432)TTT>TTC	p.F144F	NUB1_uc003wjv.2_RNA|NUB1_uc003wjw.2_Silent_p.F120F|NUB1_uc010lqb.2_RNA|NUB1_uc003wjy.2_RNA|NUB1_uc011kvj.1_RNA|NUB1_uc010lqc.2_5'Flank	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	120					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CTGAAACCTTTGGACTTCAAG	0.239													C	151049913	T	C	151049913	2	2	27	1	0	0	0	0	0	0	0	1	10714	1809	63	3		3	NUB1	7	151049913	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	114530	151049913	8088750	3905	27856											
NUB1	51667	broad.mit.edu	37	chr7	151053219	151053219	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttggttttgttacagcagcaGagacagtggtggatccagaa	13	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:151053219G>T	uc003wjx.2	+	7	681	c.676G>T	c.(676-678)GAG>TAG	p.E226*	NUB1_uc003wjv.2_RNA|NUB1_uc003wjw.2_Nonsense_Mutation_p.E202*|NUB1_uc010lqb.2_RNA|NUB1_uc003wjy.2_RNA|NUB1_uc011kvj.1_Intron|NUB1_uc010lqc.2_RNA	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	202	Potential.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TACAGCAGCAGAGACAGTGGT	0.408													T	151053219	G	T	151053219	4	4	27	1	0	0	0	0	0	1	0	0	10714	943	33	5	626	5	NUB1	7	151053219	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3306	151053219	8085444	3906	27857											
PRKAG2	51422	broad.mit.edu	37	chr7	151372597	151372597	+	Frame_Shift_Del	DEL	G	G	-													agaacctctgccctgtgtccGggggggaagacgaggcatag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:151372596_151372596CG>C	uc003wkk.3	-	3	1205	c.594_594CG>G	c.(592-594)ccgfs	p.P198fs	PRKAG2_uc011kvl.2_Frame_Shift_Del_p.P74fs|PRKAG2_uc003wkj.3_Frame_Shift_Del_p.P154fs|PRKAG2_uc010lqe.1_Non-coding_Transcript|PRKAG2_uc003wkm.1_Frame_Shift_Del_p.P198fs	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	198					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		GCCCTGTGTCCGGGGGGGAAG	0.587													-	151372597	G	-	151372597	7	5	27	1	0	1	0	1	0	0	0	0	12501	1116	39	0	1168	0	PRKAG2	7	151372597	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	319378	151372597	7766066	3907	27858											
GALNTL5	168391	broad.mit.edu	37	chr7	151716738	151716738	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattttcatttaggagcagtTttttcttcgaaagcctggtc	8	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:151716738T>C	uc003wkp.2	+	9	1407	c.1184T>C	c.(1183-1185)TTT>TCT	p.F395S	GALNTL5_uc003wkq.2_Missense_Mutation_p.F146S|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Missense_Mutation_p.F284S	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	395	Lumenal (Potential).					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TAGGAGCAGTTTTTTCTTCGA	0.373													C	151716738	T	C	151716738	3	2	27	1	0	0	0	0	1	0	0	0	6224	1841	64	3	1214	3	GALNTL5	7	151716738	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	344141	151716738	7421925	3908	27859											
MLL3	58508	broad.mit.edu	37	chr7	151845263	151845263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagtgctccagtacagccgGctggcttcatagcccacagg	12	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:151845263G>A	uc003wla.2	-	52	13968	c.13749C>T	c.(13747-13749)AGC>AGT	p.S4583S	MLL3_uc003wkz.2_Silent_p.S3701S|MLL3_uc003wkx.2_Silent_p.S741S|MLL3_uc003wky.2_Silent_p.S2147S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4583	FYR N-terminal.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AGTACAGCCGGCTGGCTTCAT	0.547			N		medulloblastoma								A	151845263	G	A	151845263	2	1	27	1	0	0	0	0	0	0	0	1	9622	1194	42	2		2	MLL3	7	151845263	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	128525	151845263	7293400	3909	27860											
MLL3	58508	broad.mit.edu	37	chr7	151845492	151845492	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcatgaattccctttggtTtgtgcatggggcaaagcata	11	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:151845492T>C	uc003wla.2	-	52	13739	c.13520A>G	c.(13519-13521)AAA>AGA	p.K4507R	MLL3_uc003wkz.2_Missense_Mutation_p.K3625R|MLL3_uc003wkx.2_Missense_Mutation_p.K665R|MLL3_uc003wky.2_Missense_Mutation_p.K2071R	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4507					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TCCCTTTGGTTTGTGCATGGG	0.428			N		medulloblastoma								C	151845492	T	C	151845492	3	2	27	1	0	0	0	0	1	0	0	0	9622	1841	64	3	1247	3	MLL3	7	151845492	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	229	151845492	7293171	3910	27861											
MLL3	58508	broad.mit.edu	37	chr7	151859810	151859810	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agttgatggagccttggtggAttctgcatcatcatctcttt	10	8	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:151859810A>T	uc003wla.2	-	43	11071	c.10852T>A	c.(10852-10854)TCC>ACC	p.S3618T	MLL3_uc003wkz.2_Missense_Mutation_p.S2679T|MLL3_uc003wky.2_Missense_Mutation_p.S1127T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3618					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCCTTGGTGGATTCTGCATCA	0.368			N		medulloblastoma								T	151859810	A	T	151859810	3	4	27	1	0	0	0	0	1	0	0	0	9622	333	12	5	3951	5	MLL3	7	151859810	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	14318	151859810	7278853	3911	27862											
MLL3	58508	broad.mit.edu	37	chr7	151864460	151864460	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catactgcttacgctgtgaaTcatctgaggaaaaattaaaa	7	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:151864460T>A	uc003wla.2	-	42	9740	c.9521A>T	c.(9520-9522)GAT>GTT	p.D3174V	MLL3_uc003wkz.2_Missense_Mutation_p.D2235V|MLL3_uc003wky.2_Missense_Mutation_p.D683V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3174	Gln-rich.|Potential.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACGCTGTGAATCATCTGAGGA	0.363			N		medulloblastoma								A	151864460	T	A	151864460	3	1	27	1	0	0	0	0	1	0	0	0	9622	1435	50	5	5286	5	MLL3	7	151864460	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4650	151864460	7274203	3912	27863											
MLL3	58508	broad.mit.edu	37	chr7	151873608	151873608	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaaaacatggtttaccctaGagactactgtcacattagaa	6	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:151873608G>T	uc003wla.2	-	38	9149	c.8930C>A	c.(8929-8931)TCT>TAT	p.S2977Y	MLL3_uc003wkz.2_Missense_Mutation_p.S2038Y|MLL3_uc003wky.2_Missense_Mutation_p.S486Y	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2977					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTTTACCCTAGAGACTACTGT	0.488			N		medulloblastoma								T	151873608	G	T	151873608	3	4	27	1	0	0	0	0	1	0	0	0	9622	942	33	5	5893	5	MLL3	7	151873608	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	9148	151873608	7265055	3913	27864											
MLL3	58508	broad.mit.edu	37	chr7	151874681	151874681	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaaatctgggtgcacaggTagctgattaggtagaccctg	12	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:151874681T>C	uc003wla.2	-	38	8076	c.7857A>G	c.(7855-7857)CTA>CTG	p.L2619L	MLL3_uc003wkz.2_Silent_p.L1680L|MLL3_uc003wky.2_Silent_p.L128L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2619	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGTGCACAGGTAGCTGATTAG	0.517			N		medulloblastoma								C	151874681	T	C	151874681	2	2	27	1	0	0	0	0	0	0	0	1	9622	1625	57	3		3	MLL3	7	151874681	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1073	151874681	7263982	3914	27865											
MLL3	58508	broad.mit.edu	37	chr7	151917681	151917681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtctgaaggacggccacGctattctgatttataatctt	11	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:151917681G>A	uc003wla.2	-	23	3858	c.3639C>T	c.(3637-3639)AGC>AGT	p.S1213S	MLL3_uc003wkz.2_Silent_p.S274S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1213					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGACGGCCACGCTATTCTGAT	0.398			N		medulloblastoma								A	151917681	G	A	151917681	2	1	27	1	0	0	0	0	0	0	0	1	9622	1078	38	1		1	MLL3	7	151917681	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	43000	151917681	7220982	3915	27866											
MLL3	58508	broad.mit.edu	37	chr7	151960175	151960175	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtatgataccctttgtcacAcgtatcacacactagcatct	5	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:151960175A>G	uc003wla.2	-	9	1444	c.1225T>C	c.(1225-1227)TGT>CGT	p.C409R		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	409	PHD-type 2.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CCTTTGTCACACGTATCACAC	0.313			N		medulloblastoma								G	151960175	A	G	151960175	3	3	27	1	0	0	0	0	1	0	0	0	9622	159	6	3	13714	3	MLL3	7	151960175	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	42494	151960175	7178488	3916	27867											
XRCC2	7516	broad.mit.edu	37	chr7	152346370	152346370	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccttctgatttgggaAgtatacatcgtgctgttagg	12	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:152346370A>G	uc003wld.2	-	3	286	c.200T>C	c.(199-201)CTT>CCT	p.L67P		NM_005431	NP_005422	O43543	XRCC2_HUMAN	X-ray repair cross complementing protein 2	67					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			breast(1)|liver(1)	2		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TGATTTGGGAAGTATACATCG	0.373								Homologous_recombination					G	152346370	A	G	152346370	3	3	27	1	0	0	0	0	1	0	0	0	17450	72	3	3	646	3	XRCC2	7	152346370	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	386195	152346370	6792293	3917	27868											
DPP6	1804	broad.mit.edu	37	chr7	154645512	154645512	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtgttcctatggtgacGgtgcacaacacaacagataa	10	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:154645512G>A	uc003wlk.2	+	17	1818	c.1689G>A	c.(1687-1689)ACG>ACA	p.T563T	DPP6_uc003wli.2_Silent_p.T499T|DPP6_uc003wlm.2_Silent_p.T501T|DPP6_uc011kvq.1_Silent_p.T456T	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	563	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTATGGTGACGGTGCACAACA	0.413													A	154645512	G	A	154645512	2	1	27	1	0	0	0	0	0	0	0	1	4730	1103	39	1		1	DPP6	7	154645512	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2299142	154645512	4493151	3918	27869											
DPP6	1804	broad.mit.edu	37	chr7	154679407	154679407	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcgttttccgagaggtActtgggcctccatggacttg	12	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:154679407A>G	uc003wlk.2	+	23	2396	c.2267A>G	c.(2266-2268)TAC>TGC	p.Y756C	DPP6_uc003wli.2_Missense_Mutation_p.Y692C|DPP6_uc003wlm.2_Missense_Mutation_p.Y694C|DPP6_uc011kvq.1_Missense_Mutation_p.Y649C	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	756	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCCGAGAGGTACTTGGGCCTC	0.582													G	154679407	A	G	154679407	3	3	27	1	0	0	0	0	1	0	0	0	4730	391	14	3	2473	3	DPP6	7	154679407	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	33895	154679407	4459256	3919	27870											
HTR5A	3361	broad.mit.edu	37	chr7	154863077	154863077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgctccgcacccgcaagtgCgtctccaacgtcatgatcgc	9	17	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:154863077C>T	uc003wlu.1	+	1	532	c.468C>T	c.(466-468)TGC>TGT	p.C156C	uc011kvt.1_5'UTR|uc003wlt.2_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	156	Cytoplasmic (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CCCGCAAGTGCGTCTCCAACG	0.622													T	154863077	C	T	154863077	2	4	27	1	0	0	0	0	0	0	0	1	7450	776	27	1		1	HTR5A	7	154863077	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	183670	154863077	4275586	3920	27871											
INSIG1	3638	broad.mit.edu	37	chr7	155094494	155094494	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctctatattcgttcttggCtcccttgtatatttttctca	4	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:155094494C>A	uc003wly.2	+	5	953	c.742C>A	c.(742-744)CTC>ATC	p.L248I	INSIG1_uc011kvu.1_Missense_Mutation_p.L96I|INSIG1_uc003wlz.2_Silent_p.G150G	NM_005542	NP_005533	O15503	INSI1_HUMAN	insulin induced gene 1 isoform 1	248	Helical; (Potential).				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGTTCTTGGCTCCCTTGTAT	0.418													A	155094494	C	A	155094494	3	1	27	1	0	0	0	0	1	0	0	0	7765	797	28	5	756	5	INSIG1	7	155094494	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	231417	155094494	4044169	3921	27872											
RBM33	155435	broad.mit.edu	37	chr7	155556609	155556609	+	Frame_Shift_Del	DEL	G	G	-													ccgcaaggtgacgctgaccaGggggggcctccagcagcccc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:155556609delG	uc010lqk.1	+	15	3451	c.3083delG	c.(3082-3084)AGGfs	p.R1028fs	RBM33_uc011kvv.1_Frame_Shift_Del_p.R838fs|RBM33_uc003wmg.2_5'UTR	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	1028							nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		ACGCTGACCAGGGGGGGCCTC	0.662													-	155556609	G	-	155556609	7	5	27	1	0	1	0	1	0	0	0	0	13130	1000	35	0	3141	0	RBM33	7	155556609	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	462115	155556609	3582054	3922	27873											
NOM1	64434	broad.mit.edu	37	chr7	156758976	156758976	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttctaggcttggacttaaGgatcagcaggagagagaaat	12	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:156758976G>T	uc003wmy.2	+	8	2061	c.2046G>T	c.(2044-2046)AAG>AAT	p.K682N		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	682	MI.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TTGGACTTAAGGATCAGCAGG	0.443													T	156758976	G	T	156758976	3	4	27	1	0	0	0	0	1	0	0	0	10530	991	35	5	2076	5	NOM1	7	156758976	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1202367	156758976	2379687	3923	27874											
UBE3C	9690	broad.mit.edu	37	chr7	156963085	156963085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctaatggccccaaccttAcccttttggtaaggcagctt	8	12	0	0	rs138777174		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:156963085A>G	uc010lqs.2	+	4	595	c.283A>G	c.(283-285)ACC>GCC	p.T95A	UBE3C_uc003wnf.2_Missense_Mutation_p.T52A|UBE3C_uc003wng.2_Missense_Mutation_p.T95A	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	95					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(2)|large_intestine(1)	5		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CCCCAACCTTACCCTTTTGGT	0.428													G	156963085	A	G	156963085	3	3	27	1	0	0	0	0	1	0	0	0	16878	391	14	3	297	3	UBE3C	7	156963085	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	204109	156963085	2175578	3924	27875											
UBE3C	9690	broad.mit.edu	37	chr7	157009567	157009567	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttctttcttttcaggttatcAccaatctagtgaaaatgttg	6	7	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:157009567A>T	uc010lqs.2	+	14	2128	c.1816A>T	c.(1816-1818)ACC>TCC	p.T606S	UBE3C_uc003wng.2_Missense_Mutation_p.T606S	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	606					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(2)|large_intestine(1)	5		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TCAGGTTATCACCAATCTAGT	0.458													T	157009567	A	T	157009567	3	4	27	1	0	0	0	0	1	0	0	0	16878	159	6	5	1870	5	UBE3C	7	157009567	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	46482	157009567	2129096	3925	27876											
PTPRN2	5799	broad.mit.edu	37	chr7	157985112	157985112	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaagggcaggtggcgTcggagggcgttggccagggc	21	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:157985112T>A	uc003wno.2	-	5	577	c.456A>T	c.(454-456)CGA>CGT	p.R152R	PTPRN2_uc003wnp.2_Silent_p.R135R|PTPRN2_uc003wnq.2_Silent_p.R152R|PTPRN2_uc003wnr.2_Silent_p.R114R|PTPRN2_uc011kwa.1_Silent_p.R175R	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	152	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCAGGTGGCGTCGGAGGGCGT	0.657													A	157985112	T	A	157985112	2	1	27	1	0	0	0	0	0	0	0	1	12808	1654	58	5		5	PTPRN2	7	157985112	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	975545	157985112	1153551	3926	27877											
NCAPG2	54892	broad.mit.edu	37	chr7	158447815	158447815	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttaagacttctaacctggaTaatttgctgataaatgaccc	6	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:158447815T>C	uc003wnv.1	-	21	2786	c.2641A>G	c.(2641-2643)ATC>GTC	p.I881V	NCAPG2_uc010lqu.1_Missense_Mutation_p.I673V|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.I881V|NCAPG2_uc011kwe.1_Missense_Mutation_p.I881V|NCAPG2_uc011kwc.1_Missense_Mutation_p.I382V|NCAPG2_uc011kwd.1_Missense_Mutation_p.I324V	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	881					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CTAACCTGGATAATTTGCTGA	0.323													C	158447815	T	C	158447815	3	2	27	1	0	0	0	0	1	0	0	0	10208	1406	49	3	822	3	NCAPG2	7	158447815	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	462703	158447815	690848	3927	27878											
VIPR2	7434	broad.mit.edu	37	chr7	158829484	158829484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggaagcaccttctagggGggagcatggccaccaggagg	16	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr7:158829484G>A	uc003woh.2	-	7	893	c.707C>T	c.(706-708)CCC>CTC	p.P236L	VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA	NM_003382	NP_003373	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	236	Cytoplasmic (Potential).				cell-cell signaling	integral to plasma membrane				lung(1)|central_nervous_system(1)	2	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CCTTCTAGGGGGGAGCATGGC	0.597													A	158829484	G	A	158829484	3	1	27	1	0	0	0	0	1	0	0	0	17167	1232	43	4	637	4	VIPR2	7	158829484	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	381669	158829484	309179	3928	27879											
ZNF596	169270	broad.mit.edu	37	chr8	196313	196313	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctttagtaaattttttaAccttagacaacatgagagaa	6	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:196313A>G	uc003wot.2	+	6	1754	c.1466A>G	c.(1465-1467)AAC>AGC	p.N489S	ZNF596_uc003wou.2_Missense_Mutation_p.N388S|ZNF596_uc003wov.2_Missense_Mutation_p.N489S|ZNF596_uc003wow.2_Missense_Mutation_p.N489S	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	489	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		AAATTTTTTAACCTTAGACAA	0.338													G	196313	A	G	196313	3	3	27	1	0	0	0	0	1	0	0	0	18023	43	2	3	1484	3	ZNF596	8	196313	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08		196313	146167709	3929	27880											
C8orf42	157695	broad.mit.edu	37	chr8	442651	442651	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaccttcaatttcatctggTtttttagactgtatattctg	5	8	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:442651T>G	uc003wpd.2	-	3	880	c.306A>C	c.(304-306)AAA>AAC	p.K102N	C8orf42_uc011kwg.1_Missense_Mutation_p.K102N	NM_175075	NP_778250	Q86YL5	CH042_HUMAN	hypothetical protein LOC157695	102											0		Ovarian(12;0.0481)|Colorectal(14;0.0815)|Hepatocellular(245;0.0968)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;5.16e-14)|OV - Ovarian serous cystadenocarcinoma(5;7.35e-07)|BRCA - Breast invasive adenocarcinoma(11;4.17e-06)|COAD - Colon adenocarcinoma(149;0.0255)		TTTCATCTGGTTTTTTAGACT	0.428													G	442651	T	G	442651	3	3	27	1	0	0	0	0	1	0	0	0	2428	1722	60	5	255	5	C8orf42	8	442651	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	246338	442651	145921371	3930	27881											
ERICH1	157697	broad.mit.edu	37	chr8	614628	614628	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cactgctcttctcaggaaggAtatgtgtgatccagtaacta	9	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:614628A>T	uc003wph.2	-	6	1372	c.1307T>A	c.(1306-1308)ATC>AAC	p.I436N	ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	436										large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CTCAGGAAGGATATGTGTGAT	0.294													T	614628	A	T	614628	3	4	27	1	0	0	0	0	1	0	0	0	5230	333	12	5	28	5	ERICH1	8	614628	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	171977	614628	145749394	3931	27882											
DLGAP2	9228	broad.mit.edu	37	chr8	1497551	1497551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgacagcacctatcggaCgcccagcgtgctcaaccggc	11	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:1497551C>T	uc003wpl.2	+	2	789	c.692C>T	c.(691-693)ACG>ATG	p.T231M	DLGAP2_uc003wpm.2_Missense_Mutation_p.T231M	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	310					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACCTATCGGACGCCCAGCGTG	0.687													T	1497551	C	T	1497551	3	4	27	1	0	0	0	0	1	0	0	0	4560	536	19	1	694	1	DLGAP2	8	1497551	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	882923	1497551	144866471	3932	27883											
DLGAP2	9228	broad.mit.edu	37	chr8	1497607	1497607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcccactgctaccccgacGcgctgcagagccccttcggg	12	18	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:1497607G>A	uc003wpl.2	+	2	845	c.748G>A	c.(748-750)GCG>ACG	p.A250T	DLGAP2_uc003wpm.2_Missense_Mutation_p.A250T	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	329					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CTACCCCGACGCGCTGCAGAG	0.677													A	1497607	G	A	1497607	3	1	27	1	0	0	0	0	1	0	0	0	4560	1087	38	1	750	1	DLGAP2	8	1497607	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	56	1497607	144866415	3933	27884											
CLN8	2055	broad.mit.edu	37	chr8	1719553	1719553	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcacatcacgacagcaacGggattcttttgctttgaaaa	7	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:1719553G>A	uc003wpo.3	+	2	638	c.333G>A	c.(331-333)ACG>ACA	p.T111T		NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8	111	TLC.|Helical; (Potential).				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		CGACAGCAACGGGATTCTTTT	0.537													A	1719553	G	A	1719553	2	1	27	1	0	0	0	0	0	0	0	1	3546	1103	39	1		1	CLN8	8	1719553	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	221946	1719553	144644469	3934	27885											
ARHGEF10	9639	broad.mit.edu	37	chr8	1828298	1828298	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcacggtgggcgtggtggagAttcagcagctcaggcagaag	18	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:1828298A>T	uc003wpr.2	+	9	1106	c.928A>T	c.(928-930)ATT>TTT	p.I310F	ARHGEF10_uc003wpq.1_Missense_Mutation_p.I335F|ARHGEF10_uc003wps.2_Intron|ARHGEF10_uc003wpt.2_Intron|ARHGEF10_uc003wpv.2_Intron|ARHGEF10_uc010lre.2_5'Flank	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	335	Potential.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CGTGGTGGAGATTCAGCAGCT	0.537													T	1828298	A	T	1828298	3	4	27	1	0	0	0	0	1	0	0	0	894	333	12	5	958	5	ARHGEF10	8	1828298	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	108745	1828298	144535724	3935	27886											
ARHGEF10	9639	broad.mit.edu	37	chr8	1851564	1851564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagagagatgctgatcaaCgctgtgaagtgaagcaaata	12	5	1	5	rs141069028		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:1851564C>T	uc003wpr.2	+	16	1946	c.1768C>T	c.(1768-1770)CGC>TGC	p.R590C	ARHGEF10_uc003wpq.1_Missense_Mutation_p.R614C|ARHGEF10_uc003wps.2_Missense_Mutation_p.R552C|ARHGEF10_uc003wpt.2_Missense_Mutation_p.R466C|ARHGEF10_uc003wpv.2_Missense_Mutation_p.R323C|ARHGEF10_uc010lre.2_Missense_Mutation_p.R270C	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	615					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGCTGATCAACGCTGTGAAGT	0.433													T	1851564	C	T	1851564	3	4	27	1	0	0	0	0	1	0	0	0	894	536	19	1	1826	1	ARHGEF10	8	1851564	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	23266	1851564	144512458	3936	27887											
ARHGEF10	9639	broad.mit.edu	37	chr8	1877548	1877548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatgagcctggcttgcacGtctcagagcctgtacgctgg	13	12	2	2	rs148672492	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:1877548G>A	uc003wpr.2	+	25	3196	c.3018G>A	c.(3016-3018)ACG>ACA	p.T1006T	ARHGEF10_uc003wps.2_Silent_p.T968T|ARHGEF10_uc010lre.2_Silent_p.T657T	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	1031					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGGCTTGCACGTCTCAGAGCC	0.572													A	1877548	G	A	1877548	2	1	27	1	0	0	0	0	0	0	0	1	894	1132	40	1		1	ARHGEF10	8	1877548	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	25984	1877548	144486474	3937	27888											
ARHGEF10	9639	broad.mit.edu	37	chr8	1904934	1904934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagaggcatggtctcctaCcatgcacacaacagtcctgt	10	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:1904934C>T	uc003wpr.2	+	29	3718	c.3540C>T	c.(3538-3540)TAC>TAT	p.Y1180Y	ARHGEF10_uc003wps.2_Silent_p.Y1142Y|ARHGEF10_uc010lre.2_Silent_p.Y831Y	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	1205					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGGTCTCCTACCATGCACACA	0.498													T	1904934	C	T	1904934	2	4	27	1	0	0	0	0	0	0	0	1	894	518	18	4		4	ARHGEF10	8	1904934	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	27386	1904934	144459088	3938	27889											
MYOM2	9172	broad.mit.edu	37	chr8	2005502	2005502	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgcctatggtgaggccaaGcgacagcgcttcctcagcga	13	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:2005502G>T	uc003wpx.3	+	4	438	c.300G>T	c.(298-300)AAG>AAT	p.K100N	MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	100					muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTGAGGCCAAGCGACAGCGCT	0.627													T	2005502	G	T	2005502	3	4	27	1	0	0	0	0	1	0	0	0	10092	962	34	5	310	5	MYOM2	8	2005502	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	100568	2005502	144358520	3939	27890											
MYOM2	9172	broad.mit.edu	37	chr8	2056581	2056581	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttttcttcgttttagagctCgagcgtttgatggcattgag	11	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:2056581C>T	uc003wpx.3	+	24	3141	c.3003C>T	c.(3001-3003)CTC>CTT	p.L1001L	MYOM2_uc011kwi.1_Silent_p.L426L	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	1001	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TTTTAGAGCTCGAGCGTTTGA	0.488													T	2056581	C	T	2056581	2	4	27	1	0	0	0	0	0	0	0	1	10092	871	31	1		1	MYOM2	8	2056581	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	51079	2056581	144307441	3940	27891											
CSMD1	64478	broad.mit.edu	37	chr8	2830724	2830724	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcagctggtgccccatttcAcaggagaagcggagaagact	12	11	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:2830724A>T	uc011kwk.1	-	57	9231	c.8841T>A	c.(8839-8841)TGT>TGA	p.C2947*	CSMD1_uc011kwj.1_Nonsense_Mutation_p.C2276*|CSMD1_uc010lrg.2_Nonsense_Mutation_p.C957*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2947	Extracellular (Potential).|Sushi 22.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCCCCATTTCACAGGAGAAGC	0.552													T	2830724	A	T	2830724	4	4	27	1	0	0	0	0	0	1	0	0	3944	157	6	5	1912	5	CSMD1	8	2830724	Nonsense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	774143	2830724	143533298	3941	27892											
CSMD1	64478	broad.mit.edu	37	chr8	3038700	3038700	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgcaggtagagttggTtggaagtactgttcagcagt	15	4	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:3038700T>C	uc011kwk.1	-	37	6050	c.5660A>G	c.(5659-5661)AAC>AGC	p.N1887S	CSMD1_uc011kwj.1_Missense_Mutation_p.N1279S|CSMD1_uc003wqe.2_Missense_Mutation_p.N1043S|CSMD1_uc010lrg.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1887	Extracellular (Potential).|CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTAGAGTTGGTTGGAAGTACT	0.403													C	3038700	T	C	3038700	3	2	27	1	0	0	0	0	1	0	0	0	3944	1725	60	3	5173	3	CSMD1	8	3038700	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	207976	3038700	143325322	3942	27893											
CSMD1	64478	broad.mit.edu	37	chr8	3087575	3087575	+	Silent	SNP	A	A	G													ctgatacctatgcatgtaggAgggtctggttgccaaaagaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:3087575A>G	uc011kwk.1	-	27	4725	c.4335T>C	c.(4333-4335)CCT>CCC	p.P1445P	CSMD1_uc011kwj.1_Silent_p.P837P|CSMD1_uc003wqe.2_Silent_p.P601P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1445	Extracellular (Potential).|Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCATGTAGGAGGGTCTGGTT	0.433													G	3087575	A	G	3087575	2	3	27	1	0	0	0	0	0	0	0	1	3944	291	11	3		3	CSMD1	8	3087575	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	48875	3087575	143276447	3943	27894	94	2									
CSMD1	64478	broad.mit.edu	37	chr8	3087584	3087584	+	Silent	SNP	T	T	C													atgcatgtaggagggtctggTtgccaaaagaaccggttatt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:3087584T>C	uc011kwk.1	-	27	4716	c.4326A>G	c.(4324-4326)CAA>CAG	p.Q1442Q	CSMD1_uc011kwj.1_Silent_p.Q834Q|CSMD1_uc003wqe.2_Silent_p.Q598Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1442	Extracellular (Potential).|Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAGGGTCTGGTTGCCAAAAGA	0.453													C	3087584	T	C	3087584	2	2	27	1	0	0	0	0	0	0	0	1	3944	1722	60	3		3	CSMD1	8	3087584	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9	3087584	143276438	3944	27895	94	2									
CSMD1	64478	broad.mit.edu	37	chr8	3165968	3165968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtaaagtggccttcatcaCggatcctatagccgtagtta	10	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:3165968C>T	uc011kwk.1	-	24	4082	c.3692G>A	c.(3691-3693)CGT>CAT	p.R1231H	CSMD1_uc011kwj.1_Missense_Mutation_p.R623H|CSMD1_uc003wqe.2_Missense_Mutation_p.R387H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1231	Extracellular (Potential).|Sushi 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCCTTCATCACGGATCCTATA	0.512													T	3165968	C	T	3165968	3	4	27	1	0	0	0	0	1	0	0	0	3944	536	19	1	7193	1	CSMD1	8	3165968	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	78384	3165968	143198054	3945	27896											
CSMD1	64478	broad.mit.edu	37	chr8	3474301	3474301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacatgtcagagaccaatGcaacacctccttggctcact	7	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:3474301G>A	uc011kwk.1	-	8	1418	c.1028C>T	c.(1027-1029)GCA>GTA	p.A343V		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	343	Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGAGACCAATGCAACACCTCC	0.393													A	3474301	G	A	3474301	3	1	27	1	0	0	0	0	1	0	0	0	3944	1319	46	2	9731	2	CSMD1	8	3474301	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	308333	3474301	142889721	3946	27897											
MCPH1	79648	broad.mit.edu	37	chr8	6302609	6302609	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaaggagagaacaagcataTttgaaatgtctgatttttcc	9	5	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:6302609T>A	uc003wqi.2	+	8	1434	c.1366T>A	c.(1366-1368)TTT>ATT	p.F456I	MCPH1_uc003wqh.2_Missense_Mutation_p.F456I|MCPH1_uc011kwl.1_Missense_Mutation_p.F408I	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	456						microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AACAAGCATATTTGAAATGTC	0.423													A	6302609	T	A	6302609	3	1	27	1	0	0	0	0	1	0	0	0	9398	1493	52	5	1396	5	MCPH1	8	6302609	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2828308	6302609	140061413	3947	27898											
MCPH1	79648	broad.mit.edu	37	chr8	6302810	6302810	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagacgcatgcccagagggaAatggcttttcttacaccatt	9	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:6302810A>G	uc003wqi.2	+	8	1635	c.1567A>G	c.(1567-1569)AAT>GAT	p.N523D	MCPH1_uc003wqh.2_Missense_Mutation_p.N523D|MCPH1_uc011kwl.1_Missense_Mutation_p.N475D	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	523						microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CCCAGAGGGAAATGGCTTTTC	0.488													G	6302810	A	G	6302810	3	3	27	1	0	0	0	0	1	0	0	0	9398	14	1	3	1597	3	MCPH1	8	6302810	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	201	6302810	140061212	3948	27899											
DEFA4	1669	broad.mit.edu	37	chr8	6793553	6793553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagaacgttaatcgacacGcgtgcagcagtatgtgaaac	11	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:6793553G>A	uc003wqu.1	-	3	334	c.283C>T	c.(283-285)CGT>TGT	p.R95C		NM_001925	NP_001916	P12838	DEF4_HUMAN	defensin, alpha 4 preproprotein	95					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				large_intestine(1)	1				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TAATCGACACGCGTGCAGCAG	0.507													A	6793553	G	A	6793553	3	1	27	1	0	0	0	0	1	0	0	0	4391	1087	38	1	14	1	DEFA4	8	6793553	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	490743	6793553	139570469	3949	27900											
SGK223	157285	broad.mit.edu	37	chr8	8185778	8185778	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttggggcttgctgttccGggcttgggggagccttgggt	19	8	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:8185778G>A	uc003wsh.3	-	4	2514	c.2514C>T	c.(2512-2514)CCC>CCT	p.P838P		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	838							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						TTGCTGTTCCGGGCTTGGGGG	0.607													A	8185778	G	A	8185778	2	1	27	1	0	0	0	0	0	0	0	1	14210	1103	39	1		1	SGK223	8	8185778	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1392225	8185778	138178244	3950	27901											
SGK223	157285	broad.mit.edu	37	chr8	8234932	8234932	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggcagcctccgaggtgagGgacagtttcttggggcccag	16	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:8234932G>T	uc003wsh.3	-	2	987	c.987C>A	c.(985-987)TCC>TCA	p.S329S		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	329							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						CCGAGGTGAGGGACAGTTTCT	0.677													T	8234932	G	T	8234932	2	4	27	1	0	0	0	0	0	0	0	1	14210	1219	43	5		5	SGK223	8	8234932	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	49154	8234932	138129090	3951	27902											
MFHAS1	9258	broad.mit.edu	37	chr8	8748972	8748972	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtgggtgcccacgatgcAcaccaccgcgtggggcactc	14	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:8748972A>G	uc003wsj.1	-	1	2160	c.1597T>C	c.(1597-1599)TGC>CGC	p.C533R		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	533	Roc.										0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CCCACGATGCACACCACCGCG	0.637													G	8748972	A	G	8748972	3	3	27	1	0	0	0	0	1	0	0	0	9521	159	6	3	1573	3	MFHAS1	8	8748972	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	514040	8748972	137615050	3952	27903											
PPP1R3B	79660	broad.mit.edu	37	chr8	8998972	8998972	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctggttgtctgcgaaggAcacccgctttttcaccttct	8	15	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:8998972A>G	uc003wsn.3	-	2	355	c.190T>C	c.(190-192)TCC>CCC	p.S64P	PPP1R3B_uc003wso.3_Missense_Mutation_p.S63P	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	64					glycogen metabolic process					ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		TCTGCGAAGGACACCCGCTTT	0.537													G	8998972	A	G	8998972	3	3	27	1	0	0	0	0	1	0	0	0	12372	275	10	3	671	3	PPP1R3B	8	8998972	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	250000	8998972	137365050	3953	27904											
PPP1R3B	79660	broad.mit.edu	37	chr8	8999110	8999110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggcaaacctctcttggcGcaaggaaggagccatgcagt	12	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:8999110G>A	uc003wsn.3	-	2	217	c.52C>T	c.(52-54)CGC>TGC	p.R18C	PPP1R3B_uc003wso.3_Missense_Mutation_p.R17C	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	18					glycogen metabolic process					ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		CTCTCTTGGCGCAAGGAAGGA	0.502													A	8999110	G	A	8999110	3	1	27	1	0	0	0	0	1	0	0	0	12372	1087	38	1	809	1	PPP1R3B	8	8999110	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	138	8999110	137364912	3954	27905											
TNKS	8658	broad.mit.edu	37	chr8	9413539	9413539	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagcgccgccgccgccAcctcctcccccactcagccc	7	25	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:9413539A>G	uc003wss.2	+	1	95	c.90A>G	c.(88-90)CCA>CCG	p.P30P	TNKS_uc011kwv.1_Silent_p.P30P|uc003wsr.1_RNA	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	30	Poly-Pro.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		CGCCGCCGCCACCTCCTCCCC	0.731													G	9413539	A	G	9413539	2	3	27	1	0	0	0	0	0	0	0	1	16316	146	6	3		3	TNKS	8	9413539	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	414429	9413539	136950483	3955	27906											
TNKS	8658	broad.mit.edu	37	chr8	9588519	9588519	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagtacctgctacaccacggTgccgatgtccatgccaaaga	10	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:9588519T>A	uc003wss.2	+	14	2126	c.2121T>A	c.(2119-2121)GGT>GGA	p.G707G	TNKS_uc011kww.1_Silent_p.G470G|TNKS_uc010lrs.1_RNA	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	707	ANK 10.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		TACACCACGGTGCCGATGTCC	0.453													A	9588519	T	A	9588519	2	1	27	1	0	0	0	0	0	0	0	1	16316	1683	59	5		5	TNKS	8	9588519	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	174980	9588519	136775503	3956	27907											
TNKS	8658	broad.mit.edu	37	chr8	9622236	9622236	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgttctgtagatgcaaagtaCtattcgagaacacagagatg	10	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:9622236C>G	uc003wss.2	+	23	3388	c.3383C>G	c.(3382-3384)ACT>AGT	p.T1128S	TNKS_uc011kww.1_Missense_Mutation_p.T891S	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	1128	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		ATGCAAAGTACTATTCGAGAA	0.318													G	9622236	C	G	9622236	3	3	27	1	0	0	0	0	1	0	0	0	16316	565	20	5	3473	5	TNKS	8	9622236	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	33717	9622236	136741786	3957	27908											
RP1L1	94137	broad.mit.edu	37	chr8	10464716	10464716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgctctggaggaggaagGgcctgtttgggagcctggcc	19	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:10464716G>A	uc003wtc.2	-	4	7121	c.6892C>T	c.(6892-6894)CCT>TCT	p.P2298S		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2298					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GAGGAGGAAGGGCCTGTTTGG	0.592													A	10464716	G	A	10464716	3	1	27	1	0	0	0	0	1	0	0	0	13533	1232	43	4	314	4	RP1L1	8	10464716	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	842480	10464716	135899306	3958	27909											
RP1L1	94137	broad.mit.edu	37	chr8	10465537	10465537	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctgactttggctgggccTctacaccgtctgactctggc	10	14	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:10465537T>C	uc003wtc.2	-	4	6300	c.6071A>G	c.(6070-6072)GAG>GGG	p.E2024G		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2024					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		TGGCTGGGCCTCTACACCGTC	0.612													C	10465537	T	C	10465537	3	2	27	1	0	0	0	0	1	0	0	0	13533	1551	54	3	1135	3	RP1L1	8	10465537	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	821	10465537	135898485	3959	27910											
RP1L1	94137	broad.mit.edu	37	chr8	10466551	10466551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatctgctgcaggtcaaagGcctctttgatgggacctctg	12	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:10466551G>A	uc003wtc.2	-	4	5286	c.5057C>T	c.(5056-5058)GCC>GTC	p.A1686V		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1686					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CAGGTCAAAGGCCTCTTTGAT	0.617													A	10466551	G	A	10466551	3	1	27	1	0	0	0	0	1	0	0	0	13533	1203	42	2	2149	2	RP1L1	8	10466551	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1014	10466551	135897471	3960	27911											
RP1L1	94137	broad.mit.edu	37	chr8	10466938	10466938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcctgctgcagctcggccGccatctggtccagcagatca	11	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:10466938G>A	uc003wtc.2	-	4	4899	c.4670C>T	c.(4669-4671)GCG>GTG	p.A1557V		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1557					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CAGCTCGGCCGCCATCTGGTC	0.657													A	10466938	G	A	10466938	3	1	27	1	0	0	0	0	1	0	0	0	13533	1087	38	1	2536	1	RP1L1	8	10466938	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	387	10466938	135897084	3961	27912											
RP1L1	94137	broad.mit.edu	37	chr8	10468315	10468315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagacacttcgggcacgctgCtgggccggccctgcttggag	15	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:10468315C>T	uc003wtc.2	-	4	3522	c.3293G>A	c.(3292-3294)AGC>AAC	p.S1098N		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1098					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GGGCACGCTGCTGGGCCGGCC	0.652													T	10468315	C	T	10468315	3	4	27	1	0	0	0	0	1	0	0	0	13533	797	28	2	3913	2	RP1L1	8	10468315	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1377	10468315	135895707	3962	27913											
RP1L1	94137	broad.mit.edu	37	chr8	10468389	10468389	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacccggccaggaagtgcCcgcaggctcaccctgcagcc	12	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:10468389C>T	uc003wtc.2	-	4	3448	c.3219G>A	c.(3217-3219)CGG>CGA	p.R1073R		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1073					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CAGGAAGTGCCCGCAGGCTCA	0.692													T	10468389	C	T	10468389	2	4	27	1	0	0	0	0	0	0	0	1	13533	610	22	4		4	RP1L1	8	10468389	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	74	10468389	135895633	3963	27914											
RP1L1	94137	broad.mit.edu	37	chr8	10469390	10469390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagtggactgcaggggtgaCagtggcactgctggttccca	16	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:10469390C>T	uc003wtc.2	-	4	2447	c.2218G>A	c.(2218-2220)GTC>ATC	p.V740I		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	740					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GCAGGGGTGACAGTGGCACTG	0.637													T	10469390	C	T	10469390	3	4	27	1	0	0	0	0	1	0	0	0	13533	478	17	4	4988	4	RP1L1	8	10469390	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1001	10469390	135894632	3964	27915											
RP1L1	94137	broad.mit.edu	37	chr8	10470474	10470474	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggggtccccacaccccaggCtctgagaagccccaagggta	12	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:10470474C>A	uc003wtc.2	-	4	1363	c.1134G>T	c.(1132-1134)GAG>GAT	p.E378D		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	378					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		ACACCCCAGGCTCTGAGAAGC	0.677													A	10470474	C	A	10470474	3	1	27	1	0	0	0	0	1	0	0	0	13533	796	28	5	6072	5	RP1L1	8	10470474	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1084	10470474	135893548	3965	27916											
RP1L1	94137	broad.mit.edu	37	chr8	10480279	10480279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggttttaagactcttccGggaggaggaggtgcctgggg	20	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:10480279G>A	uc003wtc.2	-	2	662	c.433C>T	c.(433-435)CGG>TGG	p.R145W		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	145					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		AGACTCTTCCGGGAGGAGGAG	0.592													A	10480279	G	A	10480279	3	1	27	1	0	0	0	0	1	0	0	0	13533	1115	39	1	6781	1	RP1L1	8	10480279	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	9805	10480279	135883743	3966	27917											
XKR6	286046	broad.mit.edu	37	chr8	11058241	11058241	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cggcccccatcatgggggggCcccggctggtgagcccctcc	15	18	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:11058241C>G	uc003wtk.1	-	1	635	c.608G>C	c.(607-609)GGC>GCC	p.G203A		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	203						integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CATGGGGGGGCCCCGGCTGGT	0.766													G	11058241	C	G	11058241	3	3	27	1	0	0	0	0	1	0	0	0	17432	739	26	5	1329	5	XKR6	8	11058241	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	577962	11058241	135305781	3967	27918											
MTMR9	66036	broad.mit.edu	37	chr8	11167152	11167152	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taactggctgactcacatcaAagagattctgacaactgcct	7	11	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:11167152A>G	uc003wtm.2	+	6	1324	c.926A>G	c.(925-927)AAA>AGA	p.K309R	MTMR9_uc010lrx.2_Missense_Mutation_p.K202R|MTMR9_uc011kxa.1_Missense_Mutation_p.K224R	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	309	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding				0			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		ACTCACATCAAAGAGATTCTG	0.473													G	11167152	A	G	11167152	3	3	27	1	0	0	0	0	1	0	0	0	9950	14	1	3	948	3	MTMR9	8	11167152	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	108911	11167152	135196870	3968	27919											
AMAC1L2	83650	broad.mit.edu	37	chr8	11189446	11189446	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctatgcggtcaccaaggcCcaccctgccctggtgtgcgc	13	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:11189446C>A	uc003wtp.1	+	1	952	c.831C>A	c.(829-831)GCC>GCA	p.A277A		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	acyl-malonyl condensing enzyme	277	DUF6 2.					integral to membrane					0			STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)		TCACCAAGGCCCACCCTGCCC	0.572													A	11189446	C	A	11189446	2	1	27	1	0	0	0	0	0	0	0	1	560	610	22	5		5	AMAC1L2	8	11189446	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	22294	11189446	135174576	3969	27920											
BLK	640	broad.mit.edu	37	chr8	11414274	11414274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatgaaggctctgcagcacGagcggctggtccgactctac	13	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:11414274G>A	uc003wty.2	+	9	1461	c.880G>A	c.(880-882)GAG>AAG	p.E294K	BLK_uc003wtz.2_Missense_Mutation_p.E223K	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	294	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|stomach(1)|ovary(1)	3			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TCTGCAGCACGAGCGGCTGGT	0.577													A	11414274	G	A	11414274	3	1	27	1	0	0	0	0	1	0	0	0	1444	1059	37	1	910	1	BLK	8	11414274	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	224828	11414274	134949748	3970	27921											
DEFB135	613209	broad.mit.edu	37	chr8	11842018	11842018	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccaaaatgtctaaaaaaCgaacaatatcgtattttgtg	7	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:11842018C>T	uc003wuw.1	+	2	153	c.153C>T	c.(151-153)AAC>AAT	p.N51N		NM_001033017	NP_001028189	Q30KP9	DB135_HUMAN	beta-defensin 135 precursor	51					defense response to bacterium	extracellular region					0						GTCTAAAAAACGAACAATATC	0.383													T	11842018	C	T	11842018	2	4	27	1	0	0	0	0	0	0	0	1	4419	535	19	1		1	DEFB135	8	11842018	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	427744	11842018	134522004	3971	27922											
LONRF1	91694	broad.mit.edu	37	chr8	12598381	12598381	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taattgttggtaaactgattAccttttgtacttgcagcttt	7	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:12598381A>T	uc003wwd.1	-	3	1026	c.963_splice	c.e3+1	p.K321_splice	LONRF1_uc010lsp.1_Splice_Site	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger						proteolysis		ATP-dependent peptidase activity|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(644;0.236)		TAAACTGATTACCTTTTGTAC	0.373													T	12598381	A	T	12598381	5	4	27	1	0	0	0	0	0	0	1	0	8894	405	14	5	1396	5	LONRF1	8	12598381	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	756363	12598381	133765641	3972	27923											
DLC1	10395	broad.mit.edu	37	chr8	12947943	12947943	+	Missense_Mutation	SNP	T	T	C													gggcttcagctcttgttcggTataggaattacgacatcggc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:12947943T>C	uc003wwm.2	-	15	4336	c.3892A>G	c.(3892-3894)ACC>GCC	p.T1298A	DLC1_uc003wwk.1_Missense_Mutation_p.T861A|DLC1_uc003wwl.1_Missense_Mutation_p.T895A|DLC1_uc011kxx.1_Missense_Mutation_p.T787A	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1298					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TCTTGTTCGGTATAGGAATTA	0.522													C	12947943	T	C	12947943	3	2	27	1	0	0	0	0	1	0	0	0	4550	1638	57	3	710	3	DLC1	8	12947943	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	349562	12947943	133416079	3973	27924	95	2									
DLC1	10395	broad.mit.edu	37	chr8	12947952	12947952	+	Missense_Mutation	SNP	T	T	C													ctcttgttcggtataggaatTacgacatcggctcatttcct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:12947952T>C	uc003wwm.2	-	15	4327	c.3883A>G	c.(3883-3885)AAT>GAT	p.N1295D	DLC1_uc003wwk.1_Missense_Mutation_p.N858D|DLC1_uc003wwl.1_Missense_Mutation_p.N892D|DLC1_uc011kxx.1_Missense_Mutation_p.N784D	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1295					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GTATAGGAATTACGACATCGG	0.517													C	12947952	T	C	12947952	3	2	27	1	0	0	0	0	1	0	0	0	4550	1754	61	3	719	3	DLC1	8	12947952	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9	12947952	133416070	3974	27925	95	2									
DLC1	10395	broad.mit.edu	37	chr8	12957440	12957440	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtagaacaccgtgtcctcTgggtagctctcgcggttctt	11	11	3	1	rs17854877		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:12957440T>G	uc003wwm.2	-	9	2850	c.2406A>C	c.(2404-2406)CCA>CCC	p.P802P	DLC1_uc003wwk.1_Silent_p.P365P|DLC1_uc003wwl.1_Silent_p.P399P|DLC1_uc011kxx.1_Silent_p.P291P	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	802					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						CCGTGTCCTCTGGGTAGCTCT	0.517													G	12957440	T	G	12957440	2	3	27	1	0	0	0	0	0	0	0	1	4550	1567	55	5		5	DLC1	8	12957440	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9488	12957440	133406582	3975	27926											
DLC1	10395	broad.mit.edu	37	chr8	13357407	13357407	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtcaggtagtgaaacAcacttctctttgcggtccac	9	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:13357407A>G	uc003wwm.2	-	2	618	c.174T>C	c.(172-174)TGT>TGC	p.C58C	DLC1_uc003wwn.2_Silent_p.C58C|DLC1_uc011kxy.1_Silent_p.C58C	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	58					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GTAGTGAAACACACTTCTCTT	0.458													G	13357407	A	G	13357407	2	3	27	1	0	0	0	0	0	0	0	1	4550	157	6	3		3	DLC1	8	13357407	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	399967	13357407	133006615	3976	27927											
DLC1	10395	broad.mit.edu	37	chr8	13357493	13357493	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactagtccatgatgacatgCtgtgttacgatcatcagaat	8	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:13357493C>A	uc003wwm.2	-	2	532	c.88G>T	c.(88-90)GCA>TCA	p.A30S	DLC1_uc003wwn.2_Missense_Mutation_p.A30S|DLC1_uc011kxy.1_Missense_Mutation_p.A30S	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	30					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TGATGACATGCTGTGTTACGA	0.438													A	13357493	C	A	13357493	3	1	27	1	0	0	0	0	1	0	0	0	4550	797	28	5	4651	5	DLC1	8	13357493	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	86	13357493	133006529	3977	27928											
TUSC3	7991	broad.mit.edu	37	chr8	15480695	15480695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttataaaggcaccacctcGaaactattccatgattgtta	5	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:15480695G>A	uc003wwt.2	+	2	455	c.245G>A	c.(244-246)CGA>CAA	p.R82Q	TUSC3_uc003wwr.2_Missense_Mutation_p.R82Q|TUSC3_uc003wws.2_Missense_Mutation_p.R82Q|TUSC3_uc003wwu.2_Missense_Mutation_p.R82Q|TUSC3_uc003wwv.2_Missense_Mutation_p.R82Q|TUSC3_uc003www.2_Missense_Mutation_p.R82Q|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.R82Q	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	82					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		GCACCACCTCGAAACTATTCC	0.358													A	15480695	G	A	15480695	3	1	27	1	0	0	0	0	1	0	0	0	16775	1058	37	1	251	1	TUSC3	8	15480695	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2123202	15480695	130883327	3978	27929											
EFHA2	286097	broad.mit.edu	37	chr8	16884801	16884801	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccgctatggctgcgctgCgaaggctcttgtggccgcca	13	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:16884801C>T	uc003wxd.2	+	1	55	c.13C>T	c.(13-15)CGA>TGA	p.R5*		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	5						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		GGCTGCGCTGCGAAGGCTCTT	0.627													T	16884801	C	T	16884801	4	4	27	1	0	0	0	0	0	1	0	0	4944	760	27	1	15	1	EFHA2	8	16884801	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1404106	16884801	129479221	3979	27930											
EFHA2	286097	broad.mit.edu	37	chr8	16935341	16935341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accagtttggaaaggctcatCgaagctatttcgaaatctta	8	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:16935341C>T	uc003wxd.2	+	4	659	c.617C>T	c.(616-618)TCG>TTG	p.S206L		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	206						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		AAAGGCTCATCGAAGCTATTT	0.294													T	16935341	C	T	16935341	3	4	27	1	0	0	0	0	1	0	0	0	4944	893	31	1	631	1	EFHA2	8	16935341	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	50540	16935341	129428681	3980	27931											
VPS37A	137492	broad.mit.edu	37	chr8	17137631	17137631	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacaaattattaccgacaaaGatgacttagtaaaaagtatt	5	5	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:17137631G>A	uc003wxj.2	+	7	1161	c.808G>A	c.(808-810)GAT>AAT	p.D270N	VPS37A_uc003wxk.2_Missense_Mutation_p.D245N|VPS37A_uc003wxl.2_Missense_Mutation_p.D47N	NM_152415	NP_689628	Q8NEZ2	VP37A_HUMAN	hepatocellular carcinoma related protein 1	270					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus					0				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		TACCGACAAAGATGACTTAGT	0.353													A	17137631	G	A	17137631	3	1	27	1	0	0	0	0	1	0	0	0	17202	942	33	4	834	4	VPS37A	8	17137631	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	202290	17137631	129226391	3981	27932											
MTMR7	9108	broad.mit.edu	37	chr8	17157398	17157398	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaaacacggcttcatcAgaatcccggtccttgccact	9	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:17157398A>G	uc003wxm.2	-	14	2195	c.1956T>C	c.(1954-1956)TCT>TCC	p.S652S	MTMR7_uc011kya.1_Silent_p.S286S|MTMR7_uc011kyb.1_Silent_p.S243S	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	652							protein tyrosine phosphatase activity			skin(1)	1				Colorectal(111;0.112)		CGGCTTCATCAGAATCCCGGT	0.498													G	17157398	A	G	17157398	2	3	27	1	0	0	0	0	0	0	0	1	9948	175	7	3		3	MTMR7	8	17157398	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	19767	17157398	129206624	3982	27933											
MTMR7	9108	broad.mit.edu	37	chr8	17198974	17198974	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcaccgggcactgaagccGgacaggggctggctgctccg	17	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:17198974G>A	uc003wxm.2	-	6	869	c.630C>T	c.(628-630)TCC>TCT	p.S210S	MTMR7_uc003wxn.2_5'UTR	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	210	Myotubularin phosphatase.						protein tyrosine phosphatase activity			skin(1)	1				Colorectal(111;0.112)		CACTGAAGCCGGACAGGGGCT	0.577													A	17198974	G	A	17198974	2	1	27	1	0	0	0	0	0	0	0	1	9948	1103	39	1		1	MTMR7	8	17198974	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	41576	17198974	129165048	3983	27934											
SLC7A2	6542	broad.mit.edu	37	chr8	17401121	17401121	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctatgccgaatttggggcCcgtgttcccaagacggggtc	14	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:17401121C>T	uc011kyc.1	+	2	442	c.273C>T	c.(271-273)GCC>GCT	p.A91A	SLC7A2_uc011kyd.1_Silent_p.A131A|SLC7A2_uc011kye.1_Silent_p.A131A|SLC7A2_uc011kyf.1_Silent_p.A91A	NM_001008539	NP_001008539	P52569	CTR2_HUMAN	solute carrier family 7, member 2 isoform 2	91	Cytoplasmic (Potential).				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			ovary(2)|skin(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	AATTTGGGGCCCGTGTTCCCA	0.562													T	17401121	C	T	17401121	2	4	27	1	0	0	0	0	0	0	0	1	14697	610	22	4		4	SLC7A2	8	17401121	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	202147	17401121	128962901	3984	27935											
PCM1	5108	broad.mit.edu	37	chr8	17810589	17810589	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtttacctgatgagaaagtCgaactttttagcaaaatgag	9	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:17810589C>T	uc003wyi.3	+	9	1604	c.1182C>T	c.(1180-1182)GTC>GTT	p.V394V	PCM1_uc011kyh.1_Silent_p.V394V|PCM1_uc003wyj.3_Silent_p.V394V|PCM1_uc003wyg.2_Silent_p.V394V|PCM1_uc003wyh.2_Silent_p.V433V|PCM1_uc010lta.1_Silent_p.V433V	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	394					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)		ATGAGAAAGTCGAACTTTTTA	0.388			T	RET|JAK2	papillary thyroid|CML|MPD								T	17810589	C	T	17810589	2	4	27	1	0	0	0	0	0	0	0	1	11584	871	31	1		1	PCM1	8	17810589	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	409468	17810589	128553433	3985	27936											
NAT1	9	broad.mit.edu	37	chr8	18079909	18079909	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaccattgatggcaggaActacattgtcgatgctgggt	14	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:18079909A>G	uc010ltd.2	+	5	720	c.353A>G	c.(352-354)AAC>AGC	p.N118S	NAT1_uc003wyt.2_Missense_Mutation_p.N180S|NAT1_uc003wyu.2_Missense_Mutation_p.N118S|NAT1_uc003wyv.2_Missense_Mutation_p.N118S|NAT1_uc010ltc.2_Missense_Mutation_p.N118S|NAT1_uc003wys.2_Missense_Mutation_p.N180S|NAT1_uc003wyr.2_Missense_Mutation_p.N118S|NAT1_uc003wyq.2_Missense_Mutation_p.N118S|NAT1_uc011kyl.1_Missense_Mutation_p.N118S	NM_001160179	NP_001153651	P18440	ARY1_HUMAN	N-acetyltransferase 1 isoform a	118					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity				0				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		GATGGCAGGAACTACATTGTC	0.507													G	18079909	A	G	18079909	3	3	27	1	0	0	0	0	1	0	0	0	10173	43	2	3	549	3	NAT1	8	18079909	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	269320	18079909	128284113	3986	27937											
PSD3	23362	broad.mit.edu	37	chr8	18430047	18430047	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatgattacctgagacagTtttgttgtagtggcaggcag	13	5	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:18430047T>C	uc003wza.2	-	14	2878	c.2775A>G	c.(2773-2775)AAA>AAG	p.K925K	PSD3_uc003wyx.3_Silent_p.K254K|PSD3_uc003wyy.2_Silent_p.K391K|PSD3_uc003wyz.2_Silent_p.K226K	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	926	Potential.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CCTGAGACAGTTTTGTTGTAG	0.403													C	18430047	T	C	18430047	2	2	27	1	0	0	0	0	0	0	0	1	12648	1722	60	3		3	PSD3	8	18430047	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	350138	18430047	127933975	3987	27938											
PSD3	23362	broad.mit.edu	37	chr8	18729510	18729510	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcctgggcgtcccatggaGctgcttcgatcacatccccc	11	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:18729510G>A	uc003wza.2	-	3	967	c.864C>T	c.(862-864)AGC>AGT	p.S288S		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	288					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GTCCCATGGAGCTGCTTCGAT	0.542													A	18729510	G	A	18729510	2	1	27	1	0	0	0	0	0	0	0	1	12648	962	34	2		2	PSD3	8	18729510	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	299463	18729510	127634512	3988	27939											
INTS10	55174	broad.mit.edu	37	chr8	19681411	19681411	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggatacatctgatttaatgtCacctagcaaacgtagctctc	7	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:19681411C>T	uc003wzj.2	+	7	823	c.692C>T	c.(691-693)TCA>TTA	p.S231L		NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	231					snRNA processing	integrator complex	protein binding			ovary(1)	1				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GATTTAATGTCACCTAGCAAA	0.398													T	19681411	C	T	19681411	3	4	27	1	0	0	0	0	1	0	0	0	7776	838	29	4	718	4	INTS10	8	19681411	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	951901	19681411	126682611	3989	27940											
INTS10	55174	broad.mit.edu	37	chr8	19690705	19690705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atataaaaaggcgatagccaGcctgcatcacttagcagctc	8	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:19690705G>A	uc003wzj.2	+	12	1534	c.1403G>A	c.(1402-1404)AGC>AAC	p.S468N		NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	468					snRNA processing	integrator complex	protein binding			ovary(1)	1				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GCGATAGCCAGCCTGCATCAC	0.488													A	19690705	G	A	19690705	3	1	27	1	0	0	0	0	1	0	0	0	7776	971	34	2	1449	2	INTS10	8	19690705	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	9294	19690705	126673317	3990	27941											
LZTS1	11178	broad.mit.edu	37	chr8	20110461	20110461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggtgcaggacctgctgCgcgcgctggctcttctgcga	15	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:20110461C>T	uc003wzr.2	-	2	1092	c.981G>A	c.(979-981)GCG>GCA	p.A327A	LZTS1_uc010ltg.1_Silent_p.A327A	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	327	Potential.				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GGACCTGCTGCGCGCGCTGGC	0.677													T	20110461	C	T	20110461	2	4	27	1	0	0	0	0	0	0	0	1	9138	755	27	1		1	LZTS1	8	20110461	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	419756	20110461	126253561	3991	27942											
FGF17	8822	broad.mit.edu	37	chr8	21903733	21903733	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtaccaactctacagcaggAccagtggcaagcacgtgcag	11	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:21903733A>G	uc003xag.2	+	3	193	c.181A>G	c.(181-183)ACC>GCC	p.T61A	FGF17_uc003xah.2_Missense_Mutation_p.T50A|FGF17_uc003xai.2_Missense_Mutation_p.T84A	NM_003867	NP_003858	O60258	FGF17_HUMAN	fibroblast growth factor 17 precursor	61					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		CTACAGCAGGACCAGTGGCAA	0.632													G	21903733	A	G	21903733	3	3	27	1	0	0	0	0	1	0	0	0	5845	275	10	3	191	3	FGF17	8	21903733	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1793272	21903733	124460289	3992	27943											
HR	55806	broad.mit.edu	37	chr8	21976568	21976568	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcccctccccgtccaggccTgaaaggaagtctgaggagga	13	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:21976568T>G	uc003xas.2	-	16	3773	c.3108A>C	c.(3106-3108)TCA>TCC	p.S1036S	HR_uc003xat.2_Silent_p.S1036S	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	1036	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CGTCCAGGCCTGAAAGGAAGT	0.662													G	21976568	T	G	21976568	2	3	27	1	0	0	0	0	0	0	0	1	7347	1567	55	5		5	HR	8	21976568	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	72835	21976568	124387454	3993	27944											
HR	55806	broad.mit.edu	37	chr8	21976797	21976797	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccggtgcgggctcacacCtgcatggcaatagagaaaga	12	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:21976797C>T	uc003xas.2	-	15	3643	c.2978_splice	c.e15-1	p.G993_splice	HR_uc003xat.2_Splice_Site_p.G993_splice	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a								DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGCTCACACCTGCATGGCAA	0.413													T	21976797	C	T	21976797	5	4	27	1	0	0	0	0	0	0	1	0	7347	695	24	4	612	4	HR	8	21976797	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	229	21976797	124387225	3994	27945											
REEP4	80346	broad.mit.edu	37	chr8	21996041	21996041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacagtctttttcctcgtccGaaccttcagggagcgcgagg	11	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:21996041G>A	uc003xau.1	-	8	1186	c.733C>T	c.(733-735)CGG>TGG	p.R245W	REEP4_uc010ltt.1_3'UTR	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	245						integral to membrane				skin(1)	1				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		TTCCTCGTCCGAACCTTCAGG	0.637											OREG0018606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	21996041	G	A	21996041	3	1	27	1	0	0	0	0	1	0	0	0	13207	1057	37	1	44	1	REEP4	8	21996041	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	19244	21996041	124367981	3995	27946											
REEP4	80346	broad.mit.edu	37	chr8	21996183	21996183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcttcctcttgaccacaCgcaggctctggctgcggatt	12	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:21996183C>T	uc003xau.1	-	7	1130	c.677G>A	c.(676-678)CGT>CAT	p.R226H	REEP4_uc010ltt.1_3'UTR	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	226						integral to membrane				skin(1)	1				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		CTTGACCACACGCAGGCTCTG	0.662													T	21996183	C	T	21996183	3	4	27	1	0	0	0	0	1	0	0	0	13207	536	19	1	104	1	REEP4	8	21996183	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	142	21996183	124367839	3996	27947											
LGI3	203190	broad.mit.edu	37	chr8	22006022	22006022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggcacaggtagctgtcgCggccggcacgaaagtgtttc	15	10	0	1	rs113893603	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:22006022C>T	uc003xav.2	-	8	1587	c.1298G>A	c.(1297-1299)CGC>CAC	p.R433H	LGI3_uc010ltu.2_Missense_Mutation_p.R409H	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	433	EAR 5.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GTAGCTGTCGCGGCCGGCACG	0.637													T	22006022	C	T	22006022	3	4	27	1	0	0	0	0	1	0	0	0	8753	768	27	1	352	1	LGI3	8	22006022	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	9839	22006022	124358000	3997	27948											
LGI3	203190	broad.mit.edu	37	chr8	22012934	22012934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcgggaggtgggagaaCgctccatcctggatctctga	15	10	1	2	rs142850097		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:22012934C>T	uc003xav.2	-	2	538	c.249G>A	c.(247-249)GCG>GCA	p.A83A	LGI3_uc010ltu.2_Silent_p.A83A	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	83					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GGTGGGAGAACGCTCCATCCT	0.612													T	22012934	C	T	22012934	2	4	27	1	0	0	0	0	0	0	0	1	8753	523	19	1		1	LGI3	8	22012934	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6912	22012934	124351088	3998	27949											
SFTPC	6440	broad.mit.edu	37	chr8	22020985	22020985	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccagcccctggcacctgcTgctacatcatgaagatagct	9	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:22020985T>C	uc003xax.3	+	4	519	c.361T>C	c.(361-363)TGC>CGC	p.C121R	SFTPC_uc003xaw.3_Missense_Mutation_p.C170R|SFTPC_uc011kza.1_Intron|SFTPC_uc003xaz.2_Missense_Mutation_p.C121R|SFTPC_uc003xay.3_Missense_Mutation_p.C121R|BMP1_uc011kzb.1_5'Flank|BMP1_uc003xba.2_5'Flank|BMP1_uc003xbb.2_5'Flank|BMP1_uc003xbe.2_5'Flank|BMP1_uc003xbc.2_5'Flank|BMP1_uc003xbd.2_5'Flank|BMP1_uc003xbf.2_5'Flank|BMP1_uc003xbg.2_5'Flank|BMP1_uc011kzc.1_5'Flank|BMP1_uc003xbh.2_5'Flank|BMP1_uc003xbi.2_5'Flank	NM_003018	NP_003009	P11686	PSPC_HUMAN	surfactant protein C precursor	121	BRICHOS.				respiratory gaseous exchange	extracellular space					0				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TGGCACCTGCTGCTACATCAT	0.562													C	22020985	T	C	22020985	3	2	27	1	0	0	0	0	1	0	0	0	14192	1580	55	3	375	3	SFTPC	8	22020985	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	8051	22020985	124343037	3999	27950											
POLR3D	661	broad.mit.edu	37	chr8	22105428	22105428	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagggacagagaccgacaaCgagaggggcatggacgaggg	18	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:22105428C>T	uc003xbl.2	+	4	351	c.268C>T	c.(268-270)CGA>TGA	p.R90*	uc011kzd.1_5'Flank|MIR320A_hsa-mir-320a|MI0000542_5'Flank|POLR3D_uc003xbm.2_Nonsense_Mutation_p.R90*|POLR3D_uc011kze.1_RNA	NM_001722	NP_001713	P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	90					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity				0				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AGACCGACAACGAGAGGGGCA	0.498													T	22105428	C	T	22105428	4	4	27	1	0	0	0	0	0	1	0	0	12231	528	19	1	278	1	POLR3D	8	22105428	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	84443	22105428	124258594	4000	27951											
PIWIL2	55124	broad.mit.edu	37	chr8	22137081	22137081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggaaccaagcacacagaGggggccagcacaaagggtaa	14	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:22137081G>A	uc003xbn.2	+	2	330	c.182G>A	c.(181-183)AGG>AAG	p.R61K	PIWIL2_uc011kzf.1_Missense_Mutation_p.R61K|PIWIL2_uc010ltv.2_Missense_Mutation_p.R61K	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2	61					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			skin(1)	1				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGCACACAGAGGGGGCCAGCA	0.542													A	22137081	G	A	22137081	3	1	27	1	0	0	0	0	1	0	0	0	11958	1000	35	4	184	4	PIWIL2	8	22137081	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	31653	22137081	124226941	4001	27952											
PIWIL2	55124	broad.mit.edu	37	chr8	22163529	22163529	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggacttcagagccatgaaGgttggagtcctgtgttttca	12	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:22163529G>T	uc003xbn.2	+	13	1693	c.1545G>T	c.(1543-1545)AAG>AAT	p.K515N	PIWIL2_uc011kzf.1_Missense_Mutation_p.K515N|PIWIL2_uc010ltv.2_Missense_Mutation_p.K515N	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2	515					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			skin(1)	1				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GAGCCATGAAGGTTGGAGTCC	0.438													T	22163529	G	T	22163529	3	4	27	1	0	0	0	0	1	0	0	0	11958	1014	35	5	1591	5	PIWIL2	8	22163529	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	26448	22163529	124200493	4002	27953											
SLC39A14	23516	broad.mit.edu	37	chr8	22262401	22262401	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtgacagcctcactctgCagcagctgaaggccctactc	11	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:22262401C>T	uc003xbq.3	+	2	353	c.178C>T	c.(178-180)CAG>TAG	p.Q60*	SLC39A14_uc011kzg.1_Nonsense_Mutation_p.Q60*|SLC39A14_uc003xbp.3_Nonsense_Mutation_p.Q60*|SLC39A14_uc011kzh.1_Nonsense_Mutation_p.Q60*	NM_001128431	NP_001121903	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter),	60	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity				0				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CCTCACTCTGCAGCAGCTGAA	0.592													T	22262401	C	T	22262401	4	4	27	1	0	0	0	0	0	1	0	0	14617	711	25	2	180	2	SLC39A14	8	22262401	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	98872	22262401	124101621	4003	27954											
KIAA1967	57805	broad.mit.edu	37	chr8	22472975	22472975	+	Frame_Shift_Del	DEL	C	C	-													ttcagtacctgcagccgggaCccccccggcggcttcagaca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:22472974_22472974AC>A	uc003xch.3	+	11	1491	c.1242_1242AC>A	c.(1240-1242)ggafs	p.G414fs	KIAA1967_uc003xci.3_Frame_Shift_Del_p.G414fs|KIAA1967_uc003xcj.1_Frame_Shift_Del_p.G83fs	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	414					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	p.P413P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGCAGCCGGGACCCCCCCGGC	0.582													-	22472975	C	-	22472975	7	5	27	1	0	1	0	1	0	0	0	0	8265	507	18	0	1285	0	KIAA1967	8	22472975	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	210574	22472975	123891047	4004	27955											
RHOBTB2	23221	broad.mit.edu	37	chr8	22864590	22864590	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcaggagcgggtgcgcAtctttgcccacaagatctac	12	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:22864590A>G	uc003xcq.2	+	5	1369	c.832A>G	c.(832-834)ATC>GTC	p.I278V	RHOBTB2_uc003xcp.2_Missense_Mutation_p.I300V|RHOBTB2_uc011kzp.1_Missense_Mutation_p.I285V|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	278	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GCGGGTGCGCATCTTTGCCCA	0.662													G	22864590	A	G	22864590	3	3	27	1	0	0	0	0	1	0	0	0	13334	217	8	3	931	3	RHOBTB2	8	22864590	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	391615	22864590	123499432	4005	27956											
RHOBTB2	23221	broad.mit.edu	37	chr8	22864673	22864673	+	Frame_Shift_Del	DEL	G	G	-													gacctgagtgagggggagctGgggggcccctcggagccagg					rs139255771		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:22864672_22864672TG>T	uc003xcp.2	+	6	1263	c.980_980TG>T	c.(979-981)ctgfs	p.L327fs	RHOBTB2_uc011kzp.1_Frame_Shift_Del_p.L312fs|RHOBTB2_uc003xcq.2_Frame_Shift_Del_p.L305fs|BC043400_uc003xcr.3_Non-coding_Transcript	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN	Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.	305	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GAGGGGGAGCTGGGGGGCCCC	0.622													-	22864673	G	-	22864673	7	5	27	1	0	1	0	1	0	0	0	0	13334	1335	47	0	1014	0	RHOBTB2	8	22864673	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	83	22864673	123499349	4006	27957											
RHOBTB2	23221	broad.mit.edu	37	chr8	22864808	22864808	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctttgacgtgtgcgagagCgtggatgaggctgggggctc	19	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:22864808C>T	uc003xcq.2	+	5	1587	c.1050C>T	c.(1048-1050)AGC>AGT	p.S350S	RHOBTB2_uc003xcp.2_Silent_p.S372S|RHOBTB2_uc011kzp.1_Silent_p.S357S|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	350	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGTGCGAGAGCGTGGATGAGG	0.567													T	22864808	C	T	22864808	2	4	27	1	0	0	0	0	0	0	0	1	13334	767	27	1		1	RHOBTB2	8	22864808	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	135	22864808	123499214	4007	27958											
TNFRSF10B	8795	broad.mit.edu	37	chr8	22881771	22881771	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacctttcagcttctgccggTtcctgtaacacatagtgggg	11	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:22881771T>A	uc003xcu.2	-	8	1232	c.939A>T	c.(937-939)GAA>GAT	p.E313D	TNFRSF10B_uc003xcs.1_Missense_Mutation_p.E78D|TNFRSF10B_uc003xct.2_Missense_Mutation_p.E284D|TNFRSF10B_uc011kzq.1_Missense_Mutation_p.E133D|TNFRSF10B_uc003xcv.2_Missense_Mutation_p.E211D	NM_003842	NP_003833	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily,	313	Cytoplasmic (Potential).				activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CTTCTGCCGGTTCCTGTAACA	0.294													A	22881771	T	A	22881771	3	1	27	1	0	0	0	0	1	0	0	0	16278	1722	60	5	391	5	TNFRSF10B	8	22881771	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	16963	22881771	123482251	4008	27959											
TNFRSF10C	8794	broad.mit.edu	37	chr8	22969324	22969324	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggcacagcttcaagggggAggagtgtccagcaggtgcac	17	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:22969324A>G	uc003xcy.2	+	2	353	c.152A>G	c.(151-153)GAG>GGG	p.E51G	TNFRSF10C_uc011kzr.1_Intron	NM_003841	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily,	51	TNFR-Cys 1.				apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TTCAAGGGGGAGGAGTGTCCA	0.393													G	22969324	A	G	22969324	3	3	27	1	0	0	0	0	1	0	0	0	16279	304	11	3	158	3	TNFRSF10C	8	22969324	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	87553	22969324	123394698	4009	27960											
TNFRSF10D	8793	broad.mit.edu	37	chr8	22995760	22995760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctctgacacccttcaGcttctgcctgttcctgtaac	5	17	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:22995760G>A	uc003xcz.1	-	8	1060	c.968C>T	c.(967-969)GCT>GTT	p.A323V		NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily,	323	Cytoplasmic (Potential).				anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		ACACCCTTCAGCTTCTGCCTG	0.338													A	22995760	G	A	22995760	3	1	27	1	0	0	0	0	1	0	0	0	16280	971	34	2	200	2	TNFRSF10D	8	22995760	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	26436	22995760	123368262	4010	27961											
LOXL2	4017	broad.mit.edu	37	chr8	23155621	23155621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaactttttttccgtctcttCgctgaaggaaccacctgaag	7	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:23155621C>T	uc003xdh.1	-	14	2599	c.2260G>A	c.(2260-2262)GAA>AAA	p.E754K	LOXL2_uc010lty.1_Silent_p.A255A	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	754					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCCGTCTCTTCGCTGAAGGAA	0.557													T	23155621	C	T	23155621	3	4	27	1	0	0	0	0	1	0	0	0	8900	893	31	1	68	1	LOXL2	8	23155621	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	159861	23155621	123208401	4011	27962											
LOXL2	4017	broad.mit.edu	37	chr8	23167310	23167310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggggtcggtctgcgcgGctgaggccgagaggcagttc	20	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:23167310G>A	uc003xdh.1	-	10	2090	c.1751C>T	c.(1750-1752)GCC>GTC	p.A584V	LOXL2_uc010lty.1_Missense_Mutation_p.A123V	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	584	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GGTCTGCGCGGCTGAGGCCGA	0.652													A	23167310	G	A	23167310	3	1	27	1	0	0	0	0	1	0	0	0	8900	1203	42	2	593	2	LOXL2	8	23167310	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	11689	23167310	123196712	4012	27963											
LOXL2	4017	broad.mit.edu	37	chr8	23177441	23177441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcccagctggcggcagAccaccatggcctccacgatg	12	17	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:23177441A>G	uc003xdh.1	-	8	1766	c.1427T>C	c.(1426-1428)GTC>GCC	p.V476A	LOXL2_uc010lty.1_Missense_Mutation_p.V15A	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	476	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CTGGCGGCAGACCACCATGGC	0.652													G	23177441	A	G	23177441	3	3	27	1	0	0	0	0	1	0	0	0	8900	275	10	3	925	3	LOXL2	8	23177441	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	10131	23177441	123186581	4013	27964											
LOXL2	4017	broad.mit.edu	37	chr8	23198524	23198524	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgtacactttggtattgtAtgtcctctccccagggaagc	9	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:23198524A>G	uc003xdh.1	-	4	1063	c.724T>C	c.(724-726)TAC>CAC	p.Y242H	uc003xdj.2_Intron|uc003xdi.2_Intron	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	242	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TTGGTATTGTATGTCCTCTCC	0.547													G	23198524	A	G	23198524	3	3	27	1	0	0	0	0	1	0	0	0	8900	449	16	3	1644	3	LOXL2	8	23198524	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	21083	23198524	123165498	4014	27965											
NKX3-1	4824	broad.mit.edu	37	chr8	23538760	23538760	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaaagctgggctccagctgcCcacgcagtacaggtatgggt	13	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:23538760C>G	uc011kzx.1	-	2	727	c.679G>C	c.(679-681)GGC>CGC	p.G227R	NKX3-1_uc003xdv.1_Intron	NM_006167	NP_006158	Q99801	NKX31_HUMAN	NK3 homeobox 1	227					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding				0		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		CTCCAGCTGCCCACGCAGTAC	0.547													G	23538760	C	G	23538760	3	3	27	1	0	0	0	0	1	0	0	0	10455	623	22	5	29	5	NKX3-1	8	23538760	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	340236	23538760	122825262	4015	27966											
ADAM28	10863	broad.mit.edu	37	chr8	24167473	24167474	+	Frame_Shift_Ins	INS	-	-	A													aattgcagtgctttatttgaINSaaaaaaacaagtaagtatct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:24167472_24167473G>GA	uc003xdy.3	+	2	299_300	c.216_217G>GA	c.(214-219)ttgaaafs	p.L72fs	ADAM28_uc003xdx.3_Frame_Shift_Ins_p.L72fs|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	72					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGCTTTATTTGAAAAAAAACAA	0.332													A	24167474	-	A	24167473	7	5	27	1	0	1	1	0	0	0	0	0	246	247	9	0	227	0	ADAM28	8	24167473	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	628713	24167473	122196549	4016	27967											
ADAM7	8756	broad.mit.edu	37	chr8	24356804	24356804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctatatctcaaccaattGcccctctcagtgcaatgaaa	6	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:24356804G>A	uc003xeb.2	+	17	2011	c.1898G>A	c.(1897-1899)TGC>TAC	p.C633Y	ADAM7_uc003xec.2_Missense_Mutation_p.C405Y	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	633	Extracellular (Potential).|Cys-rich.				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)		TCAACCAATTGCCCCTCTCAG	0.333													A	24356804	G	A	24356804	3	1	27	1	0	0	0	0	1	0	0	0	251	1319	46	2	1964	2	ADAM7	8	24356804	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	189331	24356804	122007218	4017	27968											
NEFM	4741	broad.mit.edu	37	chr8	24771921	24771921	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgaggcggccatccgcgcGctgcgcaaagacatcgagga	14	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:24771921G>A	uc003xed.3	+	1	648	c.615G>A	c.(613-615)GCG>GCA	p.A205A	NEFM_uc011lac.1_Silent_p.A205A|NEFM_uc010lue.2_5'Flank|uc010luc.1_Silent_p.S49S	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	205	Rod.|Coil 1B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CCATCCGCGCGCTGCGCAAAG	0.647													A	24771921	G	A	24771921	2	1	27	1	0	0	0	0	0	0	0	1	10316	1074	38	1		1	NEFM	8	24771921	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	415117	24771921	121592101	4018	27969											
NEFM	4741	broad.mit.edu	37	chr8	24772257	24772257	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgctccgccaaggaagagatCgccgagtaccggcgccagct	13	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:24772257C>T	uc003xed.3	+	1	984	c.951C>T	c.(949-951)ATC>ATT	p.I317I	NEFM_uc011lac.1_Silent_p.I317I|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'Flank	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	317	Rod.|Coil 2B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGGAAGAGATCGCCGAGTACC	0.637													T	24772257	C	T	24772257	2	4	27	1	0	0	0	0	0	0	0	1	10316	874	31	1		1	NEFM	8	24772257	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	336	24772257	121591765	4019	27970											
DOCK5	80005	broad.mit.edu	37	chr8	25203086	25203086	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accacgaggcaagctcgcagCttctgagcaacatcctggag	11	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:25203086C>A	uc003xeg.2	+	26	2850	c.2713C>A	c.(2713-2715)CTT>ATT	p.L905I	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.L619I|DOCK5_uc003xei.2_Missense_Mutation_p.L475I|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	905						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AAGCTCGCAGCTTCTGAGCAA	0.552													A	25203086	C	A	25203086	3	1	27	1	0	0	0	0	1	0	0	0	4690	797	28	5	2815	5	DOCK5	8	25203086	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	430829	25203086	121160936	4020	27971											
KCTD9	54793	broad.mit.edu	37	chr8	25293964	25293964	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttctaggtgttcaatcaaTgagtcaataccaaaaaatct	5	8	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:25293964T>C	uc003xeo.2	-	7	695	c.537A>G	c.(535-537)TCA>TCG	p.S179S	PPP2R2A_uc003xek.2_Intron	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	potassium channel tetramerisation domain	179						voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		GTTCAATCAATGAGTCAATAC	0.323													C	25293964	T	C	25293964	2	2	27	1	0	0	0	0	0	0	0	1	8116	1451	51	3		3	KCTD9	8	25293964	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	90878	25293964	121070058	4021	27972											
CDCA2	157313	broad.mit.edu	37	chr8	25317936	25317936	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgggaactgggaagattgTgactcctcagaagcatgccg	13	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:25317936T>C	uc003xep.1	+	3	577	c.98T>C	c.(97-99)GTG>GCG	p.V33A	PPP2R2A_uc003xek.2_Intron|KCTD9_uc003xeo.2_5'Flank|CDCA2_uc011lae.1_Missense_Mutation_p.V33A|CDCA2_uc003xeq.1_Missense_Mutation_p.V18A	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	33					cell division|mitosis	cytoplasm|nucleus					0		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GGGAAGATTGTGACTCCTCAG	0.433													C	25317936	T	C	25317936	3	2	27	1	0	0	0	0	1	0	0	0	3086	1696	59	3	104	3	CDCA2	8	25317936	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	23972	25317936	121046086	4022	27973											
CDCA2	157313	broad.mit.edu	37	chr8	25325834	25325834	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agagagactctgatgaaaatCtgacggatgctgaaggaaaa	12	5	2	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:25325834C>T	uc003xep.1	+	6	1119	c.640C>T	c.(640-642)CTG>TTG	p.L214L	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_Silent_p.L214L|CDCA2_uc003xeq.1_Silent_p.L199L|CDCA2_uc003xer.1_5'UTR	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	214					cell division|mitosis	cytoplasm|nucleus					0		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TGATGAAAATCTGACGGATGC	0.443													T	25325834	C	T	25325834	2	4	27	1	0	0	0	0	0	0	0	1	3086	912	32	4		4	CDCA2	8	25325834	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	7898	25325834	121038188	4023	27974											
EBF2	64641	broad.mit.edu	37	chr8	25718615	25718615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaccccaagctggctgCcataggagttgattcccatc	10	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:25718615C>T	uc003xes.1	-	13	1309	c.1292G>A	c.(1291-1293)GGC>GAC	p.G431D	PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	431					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AAGCTGGCTGCCATAGGAGTT	0.478													T	25718615	C	T	25718615	3	4	27	1	0	0	0	0	1	0	0	0	4881	739	26	2	451	2	EBF2	8	25718615	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	392781	25718615	120645407	4024	27975											
PPP2R2A	5520	broad.mit.edu	37	chr8	26220238	26220238	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaatatggaagagctaAcagaggtgattacagcagca	11	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:26220238A>C	uc003xeu.2	+	7	978	c.676A>C	c.(676-678)ACA>CCA	p.T226P	PPP2R2A_uc003xek.2_Missense_Mutation_p.T227P|PPP2R2A_uc011laf.1_Missense_Mutation_p.T236P	NM_002717	NP_002708	P63151	2ABA_HUMAN	alpha isoform of regulatory subunit B55, protein	226	WD 4.				protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			ovary(1)|kidney(1)	2		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		GGAAGAGCTAACAGAGGTGAT	0.368													C	26220238	A	C	26220238	3	2	27	1	0	0	0	0	1	0	0	0	12384	43	2	5	743	5	PPP2R2A	8	26220238	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	501623	26220238	120143784	4025	27976											
PPP2R2A	5520	broad.mit.edu	37	chr8	26227921	26227921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatatatttcaagacaaaGtgaattagggttggcattcc	9	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:26227921G>A	uc003xeu.2	+	10	1638	c.1336G>A	c.(1336-1338)GTG>ATG	p.V446M	PPP2R2A_uc003xek.2_Missense_Mutation_p.V447M|PPP2R2A_uc011laf.1_Missense_Mutation_p.V456M	NM_002717	NP_002708	P63151	2ABA_HUMAN	alpha isoform of regulatory subunit B55, protein	446	WD 7.				protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			ovary(1)|kidney(1)	2		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TCAAGACAAAGTGAATTAGGG	0.403													A	26227921	G	A	26227921	3	1	27	1	0	0	0	0	1	0	0	0	12384	1029	36	4	1415	4	PPP2R2A	8	26227921	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	7683	26227921	120136101	4026	27977											
DPYSL2	1808	broad.mit.edu	37	chr8	26505247	26505247	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaggccgcattgctgtgggAtccgatgccgacctggtcat	13	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:26505247A>T	uc003xfb.1	+	11	1562	c.1212A>T	c.(1210-1212)GGA>GGT	p.G404G	DPYSL2_uc003xfa.2_Silent_p.G509G|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Silent_p.G368G	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	404					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			large_intestine(1)	1		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TTGCTGTGGGATCCGATGCCG	0.542													T	26505247	A	T	26505247	2	4	27	1	0	0	0	0	0	0	0	1	4747	320	12	5		5	DPYSL2	8	26505247	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	277326	26505247	119858775	4027	27978											
ADRA1A	148	broad.mit.edu	37	chr8	26722383	26722383	+	Frame_Shift_Del	DEL	C	C	-													gcaccccgaaaagaatgaggCcccccaagatcaccccgagc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:26722382_26722382GC>G	uc003xfc.1	-	0	541	c.105_105GC>C	c.(103-105)ggcfs	p.G35fs	ADRA1A_uc010lul.1_Frame_Shift_Del_p.G35fs|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Frame_Shift_Del_p.G35fs|ADRA1A_uc010lum.1_Frame_Shift_Del_p.G35fs|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Frame_Shift_Del_p.G35fs|ADRA1A_uc003xfh.1_Frame_Shift_Del_p.G35fs|ADRA1A_uc022atd.1_Frame_Shift_Del_p.G35fs	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	35					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	AAAGAATGAGGCCCCCCAAGA	0.567													-	26722383	C	-	26722383	7	5	27	1	0	1	0	1	0	0	0	0	334	739	26	0	1595	0	ADRA1A	8	26722383	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	217136	26722383	119641639	4028	27979											
STMN4	81551	broad.mit.edu	37	chr8	27097663	27097663	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctgctaggtgtttcaggAgctccgcttcctggtactgg	12	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:27097663A>G	uc003xfk.2	-	5	449	c.335T>C	c.(334-336)CTC>CCC	p.L112P	STMN4_uc003xfj.2_Missense_Mutation_p.L139P|STMN4_uc011lai.1_Missense_Mutation_p.L139P|STMN4_uc011laj.1_Missense_Mutation_p.L103P|STMN4_uc011lak.1_Missense_Mutation_p.L139P|STMN4_uc010luo.2_Missense_Mutation_p.L112P			Q9H169	STMN4_HUMAN	RecName: Full=Stathmin-4; AltName: Full=Stathmin-like protein B3;          Short=RB3;	112	Potential.				intracellular signal transduction					large_intestine(1)|pancreas(1)	2		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		GTGTTTCAGGAGCTCCGCTTC	0.488													G	27097663	A	G	27097663	3	3	27	1	0	0	0	0	1	0	0	0	15310	304	11	3	242	3	STMN4	8	27097663	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	375280	27097663	119266359	4029	27980											
TRIM35	23087	broad.mit.edu	37	chr8	27145580	27145580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtagccatggttggtgacGctggtgaggtcgtcagacac	16	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:27145580G>A	uc003xfl.1	-	6	1051	c.969C>T	c.(967-969)AGC>AGT	p.S323S	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	tripartite motif-containing 35 isoform 2	323	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding				0		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GGTTGGTGACGCTGGTGAGGT	0.632													A	27145580	G	A	27145580	2	1	27	1	0	0	0	0	0	0	0	1	16506	1078	38	1		1	TRIM35	8	27145580	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	47917	27145580	119218442	4030	27981											
PTK2B	2185	broad.mit.edu	37	chr8	27255114	27255114	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaggatgtctggggtgTccgagcccctgagtcgagta	16	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:27255114T>A	uc003xfn.1	+	7	821	c.13T>A	c.(13-15)TCC>ACC	p.S5T	PTK2B_uc003xfo.1_Missense_Mutation_p.S5T|PTK2B_uc003xfp.1_Missense_Mutation_p.S5T|PTK2B_uc003xfq.1_Missense_Mutation_p.S5T	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	5					apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GTCTGGGGTGTCCGAGCCCCT	0.597													A	27255114	T	A	27255114	3	1	27	1	0	0	0	0	1	0	0	0	12763	1667	58	5	15	5	PTK2B	8	27255114	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	109534	27255114	119108908	4031	27982											
CHRNA2	1135	broad.mit.edu	37	chr8	27320949	27320949	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acgatggacagggtgacgaaGatcatggtgaacagcaggta	15	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:27320949G>T	uc010lur.2	-	6	1620	c.1011C>A	c.(1009-1011)ATC>ATA	p.I337I	CHRNA2_uc011lal.1_Silent_p.I322I|CHRNA2_uc010lus.2_Silent_p.I139I	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	337	Helical; (Potential).					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GGGTGACGAAGATCATGGTGA	0.612													T	27320949	G	T	27320949	2	4	27	1	0	0	0	0	0	0	0	1	3383	932	33	5		5	CHRNA2	8	27320949	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	65835	27320949	119043073	4032	27983											
EPHX2	2053	broad.mit.edu	37	chr8	27382949	27382949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctttggagagtatcaaaGccaacccagtatttgattac	7	11	1	2	rs148677997		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:27382949G>A	uc003xfu.2	+	12	1210	c.1129G>A	c.(1129-1131)GCC>ACC	p.A377T	EPHX2_uc010lut.1_Missense_Mutation_p.A377T|EPHX2_uc010luu.2_Missense_Mutation_p.A345T|EPHX2_uc010luv.2_Missense_Mutation_p.A311T|EPHX2_uc003xfv.2_Missense_Mutation_p.A324T|EPHX2_uc010luw.2_Missense_Mutation_p.A311T	NM_001979	NP_001970	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	377	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			ovary(1)	1		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	GAGTATCAAAGCCAACCCAGT	0.473													A	27382949	G	A	27382949	3	1	27	1	0	0	0	0	1	0	0	0	5180	971	34	2	1175	2	EPHX2	8	27382949	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	62000	27382949	118981073	4033	27984											
CLU	1191	broad.mit.edu	37	chr8	27457490	27457490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggattcgtcgagctcccgcCgcagcttagcctgggagggg	17	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:27457490C>T	uc003xfw.1	-	6	1029	c.971G>A	c.(970-972)CGG>CAG	p.R324Q	CLU_uc010lux.1_Missense_Mutation_p.R189Q|CLU_uc003xfx.1_Missense_Mutation_p.R324Q|CLU_uc003xfy.1_Missense_Mutation_p.R335Q|CLU_uc003xfz.1_Missense_Mutation_p.R376Q	NM_203339	NP_976084	P10909	CLUS_HUMAN	clusterin isoform 2	324					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			ovary(2)	2		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GAGCTCCCGCCGCAGCTTAGC	0.547													T	27457490	C	T	27457490	3	4	27	1	0	0	0	0	1	0	0	0	3568	652	23	1	390	1	CLU	8	27457490	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	74541	27457490	118906532	4034	27985											
SCARA3	51435	broad.mit.edu	37	chr8	27516928	27516928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaccacagacctgctccGggagcgcttcagcctgctca	12	16	2	1	rs142551514		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:27516928G>A	uc003xga.1	+	5	1382	c.1241G>A	c.(1240-1242)CGG>CAG	p.R414Q	SCARA3_uc003xgb.1_Missense_Mutation_p.R414Q	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	414	Extracellular (Potential).				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			skin(2)|ovary(1)|breast(1)	4		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GACCTGCTCCGGGAGCGCTTC	0.607													A	27516928	G	A	27516928	3	1	27	1	0	0	0	0	1	0	0	0	13879	1116	39	1	1259	1	SCARA3	8	27516928	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	59438	27516928	118847094	4035	27986											
CCDC25	55246	broad.mit.edu	37	chr8	27606083	27606083	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggttagaccacggcgTatataccacattaacgttgt	8	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:27606083T>C	uc003xgc.2	-	6	390	c.277A>G	c.(277-279)ACG>GCG	p.T93A	CCDC25_uc003xgd.2_Missense_Mutation_p.T25A|CCDC25_uc011lan.1_Intron|CCDC25_uc011lao.1_Intron|CCDC25_uc003xge.2_Intron|CCDC25_uc003xgf.1_RNA	NM_018246	NP_060716	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	93											0		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		GACCACGGCGTATATACCACA	0.493													C	27606083	T	C	27606083	3	2	27	1	0	0	0	0	1	0	0	0	2800	1638	57	3	365	3	CCDC25	8	27606083	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	89155	27606083	118757939	4036	27987											
ESCO2	157570	broad.mit.edu	37	chr8	27650265	27650265	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaaacaaaataaaaacTtttctttttatatctgatga	3	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:27650265T>C	uc003xgg.2	+	9	1517	c.1434T>C	c.(1432-1434)ACT>ACC	p.T478T	ESCO2_uc010luy.1_RNA	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	establishment of cohesion 1 homolog 2	478					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			central_nervous_system(1)	1		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AAATAAAAACTTTTCTTTTTA	0.303									SC_Phocomelia_syndrome				C	27650265	T	C	27650265	2	2	27	1	0	0	0	0	0	0	0	1	5249	1596	56	3		3	ESCO2	8	27650265	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	44182	27650265	118713757	4037	27988											
PBK	55872	broad.mit.edu	37	chr8	27680702	27680702	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttacagcccaaggagaaTgagacaaacctcttggagat	9	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:27680702T>C	uc003xgi.2	-	4	374	c.173A>G	c.(172-174)CAT>CGT	p.H58R	PBK_uc011lap.1_Missense_Mutation_p.H58R	NM_018492	NP_060962	Q96KB5	TOPK_HUMAN	PDZ binding kinase	58	Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity				0		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		CCAAGGAGAATGAGACAAACC	0.294													C	27680702	T	C	27680702	3	2	27	1	0	0	0	0	1	0	0	0	11488	1464	51	3	815	3	PBK	8	27680702	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	30437	27680702	118683320	4038	27989											
SCARA5	286133	broad.mit.edu	37	chr8	27737144	27737144	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcggaagccgagcatgcgGcacaccacgtctccgtcctt	11	17	1	0	rs138986901	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:27737144G>A	uc003xgj.2	-	8	1733	c.1293C>T	c.(1291-1293)TGC>TGT	p.C431C	SCARA5_uc010luz.2_Silent_p.C206C	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	431	SRCR.|Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CGAGCATGCGGCACACCACGT	0.647													A	27737144	G	A	27737144	2	1	27	1	0	0	0	0	0	0	0	1	13880	1195	42	2		2	SCARA5	8	27737144	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	56442	27737144	118626878	4039	27990											
SCARA5	286133	broad.mit.edu	37	chr8	27764677	27764677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttattacctttgaacccacGcatgcccattggtcctgtgg	9	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:27764677G>A	uc003xgj.2	-	6	1524	c.1084C>T	c.(1084-1086)CGT>TGT	p.R362C	SCARA5_uc010luz.2_Missense_Mutation_p.R137C|SCARA5_uc003xgk.2_Missense_Mutation_p.R319C|SCARA5_uc003xgl.2_Missense_Mutation_p.R362C	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	362	Collagen-like.|Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TTGAACCCACGCATGCCCATT	0.483													A	27764677	G	A	27764677	3	1	27	1	0	0	0	0	1	0	0	0	13880	1087	38	1	419	1	SCARA5	8	27764677	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	27533	27764677	118599345	4040	27991											
C8orf80	389643	broad.mit.edu	37	chr8	27891059	27891059	+	Splice_Site	DEL	A	A	-													agatgagagatcctttacctAaaaatgcttccaaaaacagg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:27891058_27891058TA>T	uc003xgm.4	-	14	1912	c.1769_splice	c.e14+1	p.R590_splice		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	590						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		ATCCTTTACCTAAAAATGCTT	0.443													-	27891059	A	-	27891059	8	5	27	1	0	1	0	1	0	0	1	0	2439	359	13	0	647	0	C8orf80	8	27891059	Splice_Site	DEL	A	TCGA-BR-6452-01A-12D-1800-08	126382	27891059	118472963	4041	27992											
ELP3	55140	broad.mit.edu	37	chr8	28017959	28017959	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcagccgggatcctactAaatttcagcatcaggtatcc	9	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:28017959A>G	uc003xgo.3	+	13	1619	c.1471A>G	c.(1471-1473)AAA>GAA	p.K491E	ELP3_uc003xgn.3_Missense_Mutation_p.K476E|ELP3_uc011laq.1_Missense_Mutation_p.K419E|ELP3_uc011lar.1_Missense_Mutation_p.K399E|ELP3_uc011las.1_Missense_Mutation_p.K372E|ELP3_uc011lat.1_Missense_Mutation_p.K372E	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	elongation protein 3 homolog	491	N-acetyltransferase.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding				0		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		GGATCCTACTAAATTTCAGCA	0.368													G	28017959	A	G	28017959	3	3	27	1	0	0	0	0	1	0	0	0	5081	363	13	3	1521	3	ELP3	8	28017959	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	126900	28017959	118346063	4042	27993											
ELP3	55140	broad.mit.edu	37	chr8	28019591	28019591	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgggaaaatcgctgtgatAtcaggtaactgggggagggc	16	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:28019591A>G	uc003xgo.3	+	14	1711	c.1563A>G	c.(1561-1563)ATA>ATG	p.I521M	ELP3_uc003xgn.3_Missense_Mutation_p.I506M|ELP3_uc011laq.1_Missense_Mutation_p.I449M|ELP3_uc011lar.1_Missense_Mutation_p.I429M|ELP3_uc011las.1_Missense_Mutation_p.I402M|ELP3_uc011lat.1_Missense_Mutation_p.I402M	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	elongation protein 3 homolog	521	N-acetyltransferase.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding				0		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TCGCTGTGATATCAGGTAACT	0.493													G	28019591	A	G	28019591	3	3	27	1	0	0	0	0	1	0	0	0	5081	439	16	3	1617	3	ELP3	8	28019591	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1632	28019591	118344431	4043	27994											
ZNF395	55893	broad.mit.edu	37	chr8	28210108	28210108	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accccagatggagggctttgAcgtgtcgtttgatgcccaca	12	11	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:28210108A>T	uc003xgq.2	-	6	990	c.902T>A	c.(901-903)GTC>GAC	p.V301D	ZNF395_uc003xgt.2_Missense_Mutation_p.V301D|ZNF395_uc003xgr.2_Missense_Mutation_p.V301D|ZNF395_uc003xgs.2_Missense_Mutation_p.V301D	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	301	C2H2-type.				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GAGGGCTTTGACGTGTCGTTT	0.582													T	28210108	A	T	28210108	3	4	27	1	0	0	0	0	1	0	0	0	17878	275	10	5	659	5	ZNF395	8	28210108	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	190517	28210108	118153914	4044	27995											
ZNF395	55893	broad.mit.edu	37	chr8	28210168	28210168	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagtttggccacaggcacTtgtacatcaccttcacagag	8	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:28210168T>C	uc003xgq.2	-	6	930	c.842A>G	c.(841-843)AAG>AGG	p.K281R	ZNF395_uc003xgt.2_Missense_Mutation_p.K281R|ZNF395_uc003xgr.2_Missense_Mutation_p.K281R|ZNF395_uc003xgs.2_Missense_Mutation_p.K281R	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	281	C2H2-type.				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		CCACAGGCACTTGTACATCAC	0.532													C	28210168	T	C	28210168	3	2	27	1	0	0	0	0	1	0	0	0	17878	1609	56	3	719	3	ZNF395	8	28210168	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	60	28210168	118153854	4045	27996											
INTS9	55756	broad.mit.edu	37	chr8	28625833	28625833	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaccttaatatcactgaAgccatgctgctccagaagaa	6	13	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:28625833A>G	uc003xha.2	-	17	2106	c.1807T>C	c.(1807-1809)TTC>CTC	p.F603L	INTS9_uc011lav.1_Missense_Mutation_p.F579L|INTS9_uc011law.1_Missense_Mutation_p.F582L|INTS9_uc011lax.1_Missense_Mutation_p.F496L|INTS9_uc010lvc.2_RNA	NM_018250	NP_060720	Q9NV88	INT9_HUMAN	integrator complex subunit 9 isoform 1	603					snRNA processing	integrator complex	protein binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		ATATCACTGAAGCCATGCTGC	0.493													G	28625833	A	G	28625833	3	3	27	1	0	0	0	0	1	0	0	0	7785	72	3	3	173	3	INTS9	8	28625833	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	415665	28625833	117738189	4046	27997											
KIF13B	23303	broad.mit.edu	37	chr8	29025093	29025093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggtcttgctgttaccccCgaggctgtcctacaggagaa	13	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:29025093C>T	uc003xhh.3	-	11	1014	c.955G>A	c.(955-957)GGG>AGG	p.G319R	KIF13B_uc003xhj.2_Missense_Mutation_p.G216R|KIF13B_uc010lvf.1_Missense_Mutation_p.G255R	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	319					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CTGTTACCCCCGAGGCTGTCC	0.393													T	29025093	C	T	29025093	3	4	27	1	0	0	0	0	1	0	0	0	8275	652	23	1	4645	1	KIF13B	8	29025093	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	399260	29025093	117338929	4047	27998											
RBPMS	11030	broad.mit.edu	37	chr8	30416475	30416475	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttctgctgaatactatgTaagtactcgctttcctttgg	8	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:30416475T>C	uc003xic.1	+	7	1263	c.598_splice	c.e7+2		RBPMS_uc003xid.1_Splice_Site|RBPMS_uc003xie.1_Splice_Site|RBPMS_uc003xif.1_Splice_Site	NM_006867	NP_006858	Q93062	RBPMS_HUMAN	RNA-binding protein with multiple splicing						positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		GAATACTATGTAAGTACTCGC	0.547													C	30416475	T	C	30416475	5	2	27	1	0	0	0	0	0	0	1	0	13163	1652	57	3		3	RBPMS	8	30416475	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1391382	30416475	115947547	4048	27999											
GTF2E2	2961	broad.mit.edu	37	chr8	30510971	30510971	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaattttgtttagagcctgAcgatcctccatgttctacct	7	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:30510971A>G	uc003xig.2	-	2	398	c.145T>C	c.(145-147)TCA>CCA	p.S49P		NM_002095	NP_002086	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2,	49					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TTAGAGCCTGACGATCCTCCA	0.363													G	30510971	A	G	30510971	3	3	27	1	0	0	0	0	1	0	0	0	6857	275	10	3	758	3	GTF2E2	8	30510971	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	94496	30510971	115853051	4049	28000											
GSR	2936	broad.mit.edu	37	chr8	30539451	30539451	+	Silent	SNP	C	C	T													gtttttaaatacctaccttcCgtgagtcccactgtcccaat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:30539451C>T	uc003xih.1	-	11	1372	c.1281G>A	c.(1279-1281)ACG>ACA	p.T427T		NM_000637	NP_000628	P00390	GSHR_HUMAN	glutathione reductase precursor	427					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			ovary(2)|pancreas(2)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	ACCTACCTTCCGTGAGTCCCA	0.433													T	30539451	C	T	30539451	2	4	27	1	0	0	0	0	0	0	0	1	6828	639	23	1		1	GSR	8	30539451	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	28480	30539451	115824571	4050	28001	96	2									
GSR	2936	broad.mit.edu	37	chr8	30539461	30539461	+	Missense_Mutation	SNP	A	A	G													acctaccttccgtgagtcccActgtcccaataggggggtgg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:30539461A>G	uc003xih.1	-	11	1362	c.1271T>C	c.(1270-1272)GTG>GCG	p.V424A		NM_000637	NP_000628	P00390	GSHR_HUMAN	glutathione reductase precursor	424					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			ovary(2)|pancreas(2)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	CGTGAGTCCCACTGTCCCAAT	0.433													G	30539461	A	G	30539461	3	3	27	1	0	0	0	0	1	0	0	0	6828	159	6	3	309	3	GSR	8	30539461	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	10	30539461	115824561	4051	28002	96	2									
TEX15	56154	broad.mit.edu	37	chr8	30695219	30695219	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatttttaagaaatttctGcaaaagcgtcccatggtctg	9	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:30695219G>A	uc003xil.2	-	3	7432	c.7432C>T	c.(7432-7434)CAG>TAG	p.Q2478*		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2478										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGAAATTTCTGCAAAAGCGTC	0.408													A	30695219	G	A	30695219	4	1	27	1	0	0	0	0	0	1	0	0	15776	1328	46	2	945	2	TEX15	8	30695219	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	155758	30695219	115668803	4052	28003											
TEX15	56154	broad.mit.edu	37	chr8	30701516	30701516	+	Frame_Shift_Del	DEL	T	T	-													gtttgcaattattccacaggTtttggtctaccaacagttct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:30701515_30701515GT>G	uc003xil.3	-	0	5019	c.5019_5019AC>C	c.(5017-5019)aacfs	p.N1673fs		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1673								p.N1673N(2)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TATTCCACAGGTTTTGGTCTA	0.333													-	30701516	T	-	30701516	7	5	27	1	0	1	0	1	0	0	0	0	15776	1725	60	0	3367	0	TEX15	8	30701516	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	6297	30701516	115662506	4053	28004											
TEX15	56154	broad.mit.edu	37	chr8	30701846	30701846	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattcctggtttggaaataTaggctatttctgaatgtaat	9	4	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:30701846T>C	uc003xil.2	-	1	4688	c.4688A>G	c.(4687-4689)TAT>TGT	p.Y1563C		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1563										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTGGAAATATAGGCTATTTC	0.393													C	30701846	T	C	30701846	3	2	27	1	0	0	0	0	1	0	0	0	15776	1406	49	3	3697	3	TEX15	8	30701846	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	330	30701846	115662176	4054	28005											
TEX15	56154	broad.mit.edu	37	chr8	30702154	30702154	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtttaactttccacgtTattctgtcctcagtgtcttt	6	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:30702154T>C	uc003xil.2	-	1	4380	c.4380A>G	c.(4378-4380)ATA>ATG	p.I1460M		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1460										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTTTCCACGTTATTCTGTCCT	0.338													C	30702154	T	C	30702154	3	2	27	1	0	0	0	0	1	0	0	0	15776	1744	61	3	4005	3	TEX15	8	30702154	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	308	30702154	115661868	4055	28006											
TEX15	56154	broad.mit.edu	37	chr8	30703082	30703082	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgcttacactgctattaTaataaactgactgacttgta	6	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:30703082T>C	uc003xil.2	-	1	3452	c.3452A>G	c.(3451-3453)TAT>TGT	p.Y1151C		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1151	Ser-rich.									ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACTGCTATTATAATAAACTGA	0.408													C	30703082	T	C	30703082	3	2	27	1	0	0	0	0	1	0	0	0	15776	1406	49	3	4933	3	TEX15	8	30703082	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	928	30703082	115660940	4056	28007											
TEX15	56154	broad.mit.edu	37	chr8	30704392	30704392	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttcccaactgatacgagaCttcagagccttatatgaggt	8	11	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:30704392C>A	uc003xil.2	-	1	2142	c.2142G>T	c.(2140-2142)AAG>AAT	p.K714N		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	714										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGATACGAGACTTCAGAGCCT	0.383													A	30704392	C	A	30704392	3	1	27	1	0	0	0	0	1	0	0	0	15776	564	20	5	6243	5	TEX15	8	30704392	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1310	30704392	115659630	4057	28008											
TEX15	56154	broad.mit.edu	37	chr8	30704541	30704541	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctctgaagaactaagttctCatttattgattgatgaaatg	8	5	2	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:30704541C>T	uc003xil.2	-	1	1993	c.1993G>A	c.(1993-1995)GAG>AAG	p.E665K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	665										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACTAAGTTCTCATTTATTGAT	0.289													T	30704541	C	T	30704541	3	4	27	1	0	0	0	0	1	0	0	0	15776	835	29	4	6392	4	TEX15	8	30704541	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	149	30704541	115659481	4058	28009											
TEX15	56154	broad.mit.edu	37	chr8	30704620	30704620	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaaccctatgttttacTaacaaaccaaaatctggact	4	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:30704620T>C	uc003xil.2	-	1	1914	c.1914A>G	c.(1912-1914)TTA>TTG	p.L638L		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	638										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TATGTTTTACTAACAAACCAA	0.323													C	30704620	T	C	30704620	2	2	27	1	0	0	0	0	0	0	0	1	15776	1519	53	3		3	TEX15	8	30704620	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	79	30704620	115659402	4059	28010											
PURG	29942	broad.mit.edu	37	chr8	30889514	30889514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgaaagaagtcccctctGggagttcaagcgggtcatcg	12	11	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:30889514G>A	uc003xin.2	-	1	804	c.785C>T	c.(784-786)CCA>CTA	p.P262L	WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.P262L	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G isoform A	262	By similarity.					nucleus	DNA binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		AGTCCCCTCTGGGAGTTCAAG	0.448													A	30889514	G	A	30889514	3	1	27	1	0	0	0	0	1	0	0	0	12829	1348	47	4	371	4	PURG	8	30889514	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	184894	30889514	115474508	4060	28011											
WRN	7486	broad.mit.edu	37	chr8	30933738	30933738	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacagttgacttcaatctcTgaggaagtgatggatctggc	11	7	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:30933738T>C	uc003xio.3	+	8	1562	c.774T>C	c.(772-774)TCT>TCC	p.S258S		NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	258	Interaction with WRNIP1 (By similarity).				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCAATCTCTGAGGAAGTGA	0.343			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				C	30933738	T	C	30933738	2	2	27	1	0	0	0	0	0	0	0	1	17399	1567	55	3		3	WRN	8	30933738	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	44224	30933738	115430284	4061	28012											
WRN	7486	broad.mit.edu	37	chr8	31007893	31007893	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacgtaaaaaggattgatggTgtttctgaaggcaaagctgc	12	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:31007893T>G	uc003xio.3	+	31	4397	c.3609T>G	c.(3607-3609)GGT>GGG	p.G1203G	WRN_uc010lvk.2_Silent_p.G670G	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	1203	HRDC.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GGATTGATGGTGTTTCTGAAG	0.368			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				G	31007893	T	G	31007893	2	3	27	1	0	0	0	0	0	0	0	1	17399	1683	59	5		5	WRN	8	31007893	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	74155	31007893	115356129	4062	28013											
NRG1	3084	broad.mit.edu	37	chr8	32621679	32621679	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacattgctaacagattggAagtggacagcaacacaagct	9	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:32621679A>C	uc003xiv.2	+	12	2199	c.1682A>C	c.(1681-1683)GAA>GCA	p.E561A	NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.E566A|NRG1_uc003xiw.2_Missense_Mutation_p.E558A|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.E303A|NRG1_uc010lvs.2_Missense_Mutation_p.E303A|NRG1_uc010lvp.2_Missense_Mutation_p.E515A|NRG1_uc010lvq.2_Missense_Mutation_p.E498A|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.E404A|NRG1_uc003xja.2_Missense_Mutation_p.E372A	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	561	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AACAGATTGGAAGTGGACAGC	0.512													C	32621679	A	C	32621679	3	2	27	1	0	0	0	0	1	0	0	0	10647	246	9	5	3453	5	NRG1	8	32621679	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1613786	32621679	113742343	4063	28014											
FUT10	84750	broad.mit.edu	37	chr8	33246774	33246774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtgatgctgggggatcCgtaatatacagggactaccc	13	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:33246774C>T	uc003xje.2	-	4	1275	c.919G>A	c.(919-921)GGA>AGA	p.G307R	FUT10_uc003xjc.2_Missense_Mutation_p.G314R|FUT10_uc003xjd.2_Missense_Mutation_p.G279R|FUT10_uc011lbi.1_Missense_Mutation_p.G357R|FUT10_uc003xjf.2_Missense_Mutation_p.G245R|FUT10_uc003xjg.2_Missense_Mutation_p.G279R|FUT10_uc003xjh.2_Missense_Mutation_p.G307R	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10	307	Lumenal (Potential).				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			ovary(1)|pancreas(1)	2				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		CTGGGGGATCCGTAATATACA	0.443													T	33246774	C	T	33246774	3	4	27	1	0	0	0	0	1	0	0	0	6102	661	23	1	528	1	FUT10	8	33246774	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	625095	33246774	113117248	4064	28015											
FUT10	84750	broad.mit.edu	37	chr8	33246847	33246847	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtagtcatcacaaactgcAttctcaaaagctaggataaa	6	8	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:33246847A>G	uc003xje.2	-	4	1202	c.846T>C	c.(844-846)AAT>AAC	p.N282N	FUT10_uc003xjc.2_Silent_p.N289N|FUT10_uc003xjd.2_Silent_p.N254N|FUT10_uc011lbi.1_Silent_p.N332N|FUT10_uc003xjf.2_Silent_p.N220N|FUT10_uc003xjg.2_Silent_p.N254N|FUT10_uc003xjh.2_Silent_p.N282N	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10	282	Lumenal (Potential).				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			ovary(1)|pancreas(1)	2				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		CACAAACTGCATTCTCAAAAG	0.463													G	33246847	A	G	33246847	2	3	27	1	0	0	0	0	0	0	0	1	6102	214	8	3		3	FUT10	8	33246847	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	73	33246847	113117175	4065	28016											
C8orf41	80185	broad.mit.edu	37	chr8	33369888	33369888	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcttttgctacctgccccaGtgtctccggcattccgcgga	11	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:33369888G>T	uc003xjl.3	-	1	769	c.244C>A	c.(244-246)CTG>ATG	p.L82M	C8orf41_uc003xjk.3_Missense_Mutation_p.L82M|C8orf41_uc010lvv.2_Missense_Mutation_p.L82M|C8orf41_uc003xjm.3_Missense_Mutation_p.L82M|C8orf41_uc003xjn.1_Missense_Mutation_p.L82M	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	hypothetical protein LOC80185	82							binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		ACCTGCCCCAGTGTCTCCGGC	0.557													T	33369888	G	T	33369888	3	4	27	1	0	0	0	0	1	0	0	0	2427	1020	36	5	1310	5	C8orf41	8	33369888	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	123041	33369888	112994134	4066	28017											
KCNU1	157855	broad.mit.edu	37	chr8	36644837	36644837	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attgtaggaactgttcacatCaggtaccatcgctaggagcc	10	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:36644837C>T	uc010lvw.2	+	2	296	c.209C>T	c.(208-210)TCA>TTA	p.S70L	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	70	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTGTTCACATCAGGTACCATC	0.438													T	36644837	C	T	36644837	3	4	27	1	0	0	0	0	1	0	0	0	8093	838	29	4	215	4	KCNU1	8	36644837	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3274949	36644837	109719185	4067	28018											
ZNF703	80139	broad.mit.edu	37	chr8	37556065	37556065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccggtaccacccctatgGcaagagccacttatccacag	8	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:37556065G>A	uc003xjy.1	+	2	1843	c.1646G>A	c.(1645-1647)GGC>GAC	p.G549D		NM_025069	NP_079345	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	549					adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			CACCCCTATGGCAAGAGCCAC	0.517													A	37556065	G	A	37556065	3	1	27	1	0	0	0	0	1	0	0	0	18103	1203	42	2	1652	2	ZNF703	8	37556065	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	911228	37556065	108807957	4068	28019											
BRF2	55290	broad.mit.edu	37	chr8	37704490	37704490	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaatctgcatacaacagcgTgcagatggcccccattgtta	8	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:37704490T>G	uc003xkk.2	-	3	528	c.418A>C	c.(418-420)ACG>CCG	p.T140P		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	RNA polymerase III transcription initiation	140	1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding				0		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			TACAACAGCGTGCAGATGGCC	0.532													G	37704490	T	G	37704490	3	3	27	1	0	0	0	0	1	0	0	0	1511	1696	59	5	849	5	BRF2	8	37704490	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	148425	37704490	108659532	4069	28020											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37728933	37728934	+	Frame_Shift_Ins	INS	-	-	T													cggagccctctgctgtggctINStttttttgagattctgctgt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:37728932_37728933C>CT	uc003xkm.2	-	3	3443_3444	c.3387_3388G>AG	c.(3385-3390)aaagccfs	p.K1129fs	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Frame_Shift_Ins_p.K458fs|RAB11FIP1_uc003xko.1_Frame_Shift_Ins_p.K458fs|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	1129					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCTGCTGTGGCTTTTTTTTGAG	0.545											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	37728934	-	T	37728933	7	5	27	1	0	1	1	0	0	0	0	0	12893	1606	56	0	476	0	RAB11FIP1	8	37728933	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	24443	37728933	108635089	4070	28021											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37729405	37729405	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatcttcaacctgatctAttctttcatcatccgatgcg	5	13	7	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:37729405A>T	uc003xkm.1	-	4	2959	c.2915T>A	c.(2914-2916)ATA>AAA	p.I972K	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.I301K|RAB11FIP1_uc003xko.1_Missense_Mutation_p.I301K|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	972					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AACCTGATCTATTCTTTCATC	0.453													T	37729405	A	T	37729405	3	4	27	1	0	0	0	0	1	0	0	0	12893	449	16	5	948	5	RAB11FIP1	8	37729405	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	472	37729405	108634617	4071	28022											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37734665	37734665	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actcatcctcattgtcatctTcatcccactgggactgaaag	6	13	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:37734665T>A	uc003xkm.1	-	2	820	c.776A>T	c.(775-777)GAA>GTA	p.E259V	RAB11FIP1_uc010lvz.1_Missense_Mutation_p.E107V|RAB11FIP1_uc003xkn.1_Missense_Mutation_p.E259V|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.E107V	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	259					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			ATTGTCATCTTCATCCCACTG	0.522													A	37734665	T	A	37734665	3	1	27	1	0	0	0	0	1	0	0	0	12893	1783	62	5	3095	5	RAB11FIP1	8	37734665	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	5260	37734665	108629357	4072	28023											
ASH2L	9070	broad.mit.edu	37	chr8	37964605	37964605	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtggatgaagagaatggcCgacagttgggtgaggtagag	18	5	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:37964605C>T	uc003xkt.3	+	3	380	c.322C>T	c.(322-324)CGA>TGA	p.R108*	ASH2L_uc011lbk.1_Intron|ASH2L_uc003xku.3_Nonsense_Mutation_p.R14*|ASH2L_uc010lwa.2_Nonsense_Mutation_p.R14*	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	ash2-like isoform a	108					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				AGAGAATGGCCGACAGTTGGG	0.483													T	37964605	C	T	37964605	4	4	27	1	0	0	0	0	0	1	0	0	1042	644	23	1	332	1	ASH2L	8	37964605	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	229940	37964605	108399417	4073	28024											
ASH2L	9070	broad.mit.edu	37	chr8	37986298	37986298	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccttcaagctcctttaggTtatgataaatttagctattc	5	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:37986298T>C	uc003xkt.3	+	12	1414	c.1356T>C	c.(1354-1356)GGT>GGC	p.G452G	ASH2L_uc011lbk.1_Silent_p.G313G|ASH2L_uc003xku.3_Silent_p.G358G|ASH2L_uc010lwa.2_Silent_p.G358G	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	ash2-like isoform a	452	B30.2/SPRY.				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CTCCTTTAGGTTATGATAAAT	0.418													C	37986298	T	C	37986298	2	2	27	1	0	0	0	0	0	0	0	1	1042	1712	60	3		3	ASH2L	8	37986298	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	21693	37986298	108377724	4074	28025											
STAR	6770	broad.mit.edu	37	chr8	38005720	38005720	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctccccgacacttacctGctgactctccttcttccagc	4	19	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:38005720G>A	uc003xkv.1	-	3	568	c.304C>T	c.(304-306)CAG>TAG	p.Q102*	STAR_uc010lwc.1_Nonsense_Mutation_p.Q64*	NM_001007243	NP_001007244	P49675	STAR_HUMAN	steroidogenic acute regulatory protein isoform	102	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			ovary(1)	1	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		ACACTTACCTGCTGACTCTCC	0.567													A	38005720	G	A	38005720	4	1	27	1	0	0	0	0	0	1	0	0	15253	1328	46	2	573	2	STAR	8	38005720	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	19422	38005720	108358302	4075	28026											
LSM1	27257	broad.mit.edu	37	chr8	38027366	38027366	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcctctgaccacaaaaatcCctcgaggaatatcaccgtat	5	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:38027366C>A	uc003xkw.2	-	3	373	c.185G>T	c.(184-186)GGG>GTG	p.G62V	LSM1_uc003xkx.2_RNA	NM_014462	NP_055277	O15116	LSM1_HUMAN	Lsm1 protein	62					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding				0	Colorectal(12;0.000442)					CACAAAAATCCCTCGAGGAAT	0.383													A	38027366	C	A	38027366	3	1	27	1	0	0	0	0	1	0	0	0	9050	623	22	5	224	5	LSM1	8	38027366	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	21646	38027366	108336656	4076	28027											
DDHD2	23259	broad.mit.edu	37	chr8	38103772	38103772	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcttatattgtttgataTcctaacaaatcagaaagatt	5	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:38103772T>A	uc003xlb.2	+	9	1456	c.1079T>A	c.(1078-1080)ATC>AAC	p.I360N	DDHD2_uc003xlc.2_Missense_Mutation_p.I360N|DDHD2_uc011lbl.1_Missense_Mutation_p.I172N|DDHD2_uc003xld.2_5'Flank	NM_015214	NP_056029	O94830	DDHD2_HUMAN	DDHD domain containing 2 isoform 1	360					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			large_intestine(1)|ovary(1)	2	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TTGTTTGATATCCTAACAAAT	0.323													A	38103772	T	A	38103772	3	1	27	1	0	0	0	0	1	0	0	0	4327	1435	50	5	1171	5	DDHD2	8	38103772	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	76406	38103772	108260250	4077	28028											
WHSC1L1	54904	broad.mit.edu	37	chr8	38189055	38189055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtttttcatgaacccacGccctctctggctggttgcta	8	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:38189055G>A	uc003xli.2	-	5	1477	c.959C>T	c.(958-960)GCG>GTG	p.A320V	WHSC1L1_uc011lbm.1_Missense_Mutation_p.A320V|WHSC1L1_uc010lwe.2_Missense_Mutation_p.A320V|WHSC1L1_uc003xlj.2_Missense_Mutation_p.A320V	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	320	PWWP 1.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			ATGAACCCACGCCCTCTCTGG	0.403			T	NUP98	AML								A	38189055	G	A	38189055	3	1	27	1	0	0	0	0	1	0	0	0	17360	1087	38	1	3521	1	WHSC1L1	8	38189055	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	85283	38189055	108174967	4078	28029											
WHSC1L1	54904	broad.mit.edu	37	chr8	38205606	38205606	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaaaggcatcctcctgacgGatgttggcggagtcaatgag	13	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:38205606G>A	uc003xli.2	-	2	602	c.84C>T	c.(82-84)ATC>ATT	p.I28I	WHSC1L1_uc011lbm.1_Silent_p.I28I|WHSC1L1_uc010lwe.2_Silent_p.I28I|WHSC1L1_uc003xlj.2_Silent_p.I28I	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	28					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CCTCCTGACGGATGTTGGCGG	0.468			T	NUP98	AML								A	38205606	G	A	38205606	2	1	27	1	0	0	0	0	0	0	0	1	17360	1164	41	4		4	WHSC1L1	8	38205606	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	16551	38205606	108158416	4079	28030											
LETM2	137994	broad.mit.edu	37	chr8	38264558	38264558	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaactgaagggaactaaggTtagacagttactttccattt	8	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:38264558T>C	uc003xlm.1	+	9	1341	c.1170_splice	c.e9+2	p.K390_splice	LETM2_uc003xll.1_Splice_Site_p.K342_splice|LETM2_uc003xln.1_Splice_Site_p.K234_splice|LETM2_uc003xlo.1_Splice_Site_p.K234_splice	NM_144652	NP_653253	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane							integral to membrane|mitochondrial inner membrane					0	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			GGAACTAAGGTTAGACAGTTA	0.353													C	38264558	T	C	38264558	5	2	27	1	0	0	0	0	0	0	1	0	8735	1739	60	3	1050	3	LETM2	8	38264558	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	58952	38264558	108099464	4080	28031											
FGFR1	2260	broad.mit.edu	37	chr8	38279324	38279324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtgtgtaccttccagaaCggtcaaccatgcagagtgat	10	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:38279324C>T	uc003xlp.2	-	8	2014	c.1072G>A	c.(1072-1074)GTT>ATT	p.V358I	FGFR1_uc011lbo.1_Missense_Mutation_p.V356I|FGFR1_uc011lbp.1_Missense_Mutation_p.V269I|FGFR1_uc011lbq.1_Missense_Mutation_p.V267I|FGFR1_uc010lwk.2_Missense_Mutation_p.V350I|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.V198I|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbu.1_Missense_Mutation_p.V389I|FGFR1_uc011lbv.1_Missense_Mutation_p.V356I|FGFR1_uc011lbw.1_Missense_Mutation_p.V269I|FGFR1_uc011lbx.1_Missense_Mutation_p.V269I	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	358	Extracellular (Potential).				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CCTTCCAGAACGGTCAACCAT	0.557		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						T	38279324	C	T	38279324	3	4	27	1	0	0	0	0	1	0	0	0	5863	536	19	1	1440	1	FGFR1	8	38279324	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	14766	38279324	108084698	4081	28032											
ADAM18	8749	broad.mit.edu	37	chr8	39495122	39495122	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtcaaatgaaaaccagAtttccaccagtggggatgct	11	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:39495122A>T	uc003xni.2	+	9	727	c.727A>T	c.(727-729)ATT>TTT	p.I243F	ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.I219F	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	243	Peptidase M12B.|Extracellular (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TGAAAACCAGATTTCCACCAG	0.363													T	39495122	A	T	39495122	3	4	27	1	0	0	0	0	1	0	0	0	239	333	12	5	761	5	ADAM18	8	39495122	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1215798	39495122	106868900	4082	28033											
ADAM18	8749	broad.mit.edu	37	chr8	39525578	39525578	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agagtgtgattttacagagtActgcaatggaacctctagta	10	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:39525578A>T	uc003xni.2	+	14	1388	c.1388A>T	c.(1387-1389)TAC>TTC	p.Y463F	ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.Y439F	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	463	Disintegrin.|Extracellular (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTACAGAGTACTGCAATGGA	0.388													T	39525578	A	T	39525578	3	4	27	1	0	0	0	0	1	0	0	0	239	391	14	5	1442	5	ADAM18	8	39525578	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	30456	39525578	106838444	4083	28034											
ADAM2	2515	broad.mit.edu	37	chr8	39644522	39644522	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acctcctgcatagtttgcatCacacatcttcccttgaaagg	6	13	2	1	rs1059133		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:39644522C>T	uc003xnj.2	-	10	937	c.862G>A	c.(862-864)GAT>AAT	p.D288N	ADAM2_uc003xnk.2_Missense_Mutation_p.D269N|ADAM2_uc011lck.1_Missense_Mutation_p.D288N|ADAM2_uc003xnl.2_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	288	Extracellular (Potential).|Peptidase M12B.			D -> H (in Ref. 1; AAC51110).	cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TAGTTTGCATCACACATCTTC	0.284													T	39644522	C	T	39644522	3	4	27	1	0	0	0	0	1	0	0	0	241	826	29	4	1389	4	ADAM2	8	39644522	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	118944	39644522	106719500	4084	28035											
SFRP1	6422	broad.mit.edu	37	chr8	41122885	41122885	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcagccccattcttcaggTacagcacaagcttcttcagg	8	13	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:41122885T>C	uc003xnt.2	-	3	1048	c.746A>G	c.(745-747)TAC>TGC	p.Y249C		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1 precursor	249	NTR.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			ATTCTTCAGGTACAGCACAAG	0.527													C	41122885	T	C	41122885	3	2	27	1	0	0	0	0	1	0	0	0	14161	1638	57	3	202	3	SFRP1	8	41122885	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1478363	41122885	105241137	4085	28036											
GOLGA7	51125	broad.mit.edu	37	chr8	41355108	41355108	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaagctcggcggccagtcAtatctcgaaggttgtttggc	14	9	2	1	rs149099838		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:41355108A>G	uc003xnu.2	+	3	270	c.192A>G	c.(190-192)TCA>TCG	p.S64S	GOLGA7_uc003xnv.2_RNA|GOLGA7_uc003xnw.2_Silent_p.S64S	NM_016099	NP_057183	Q7Z5G4	GOGA7_HUMAN	golgi autoantigen, golgin subfamily a, 7	64						Golgi membrane				breast(1)	1	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			GCGGCCAGTCATATCTCGAAG	0.373													G	41355108	A	G	41355108	2	3	27	1	0	0	0	0	0	0	0	1	6561	204	8	3		3	GOLGA7	8	41355108	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	232223	41355108	105008914	4086	28037											
GOLGA7	51125	broad.mit.edu	37	chr8	41363518	41363518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgacagaccctattgagcGaggactgcgagttgtatctt	11	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:41363518G>A	uc003xnu.2	+	4	431	c.353G>A	c.(352-354)CGA>CAA	p.R118Q	GOLGA7_uc003xnv.2_RNA|GOLGA7_uc003xnw.2_Missense_Mutation_p.R118Q	NM_016099	NP_057183	Q7Z5G4	GOGA7_HUMAN	golgi autoantigen, golgin subfamily a, 7	118						Golgi membrane				breast(1)	1	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			CCTATTGAGCGAGGACTGCGA	0.388													A	41363518	G	A	41363518	3	1	27	1	0	0	0	0	1	0	0	0	6561	1058	37	1	363	1	GOLGA7	8	41363518	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	8410	41363518	105000504	4087	28038											
AGPAT6	137964	broad.mit.edu	37	chr8	41469463	41469463	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatgttcacttaatgtgttAccggatctgcgtgcgagcgc	11	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:41469463A>G	uc003xnz.2	+	6	1592	c.653A>G	c.(652-654)TAC>TGC	p.Y218C		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	lysophosphatidic acid acyltransferase zeta	218					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity				0	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			TTAATGTGTTACCGGATCTGC	0.453													G	41469463	A	G	41469463	3	3	27	1	0	0	0	0	1	0	0	0	391	391	14	3	671	3	AGPAT6	8	41469463	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	105945	41469463	104894559	4088	28039											
ANK1	286	broad.mit.edu	37	chr8	41577192	41577192	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cactcaccagggctctggagTtgggtttggcccctttatcc	11	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:41577192T>G	uc003xok.2	-	10	1178	c.1094A>C	c.(1093-1095)AAC>ACC	p.N365T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.N365T|ANK1_uc003xoj.2_Missense_Mutation_p.N365T|ANK1_uc003xol.2_Missense_Mutation_p.N365T|ANK1_uc003xom.2_Missense_Mutation_p.N398T	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	365	ANK 10.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGCTCTGGAGTTGGGTTTGGC	0.642													G	41577192	T	G	41577192	3	3	27	1	0	0	0	0	1	0	0	0	620	1725	60	5	5037	5	ANK1	8	41577192	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	107729	41577192	104786830	4089	28040											
ANK1	286	broad.mit.edu	37	chr8	41581066	41581066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacccaccttggtcttggttTctatctgggctccccgatcc	8	16	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:41581066T>C	uc003xok.2	-	8	881	c.797A>G	c.(796-798)GAA>GGA	p.E266G	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.E266G|ANK1_uc003xoj.2_Missense_Mutation_p.E266G|ANK1_uc003xol.2_Missense_Mutation_p.E266G|ANK1_uc003xom.2_Missense_Mutation_p.E299G	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	266	ANK 7.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGTCTTGGTTTCTATCTGGGC	0.652													C	41581066	T	C	41581066	3	2	27	1	0	0	0	0	1	0	0	0	620	1783	62	3	5342	3	ANK1	8	41581066	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3874	41581066	104782956	4090	28041											
ANK1	286	broad.mit.edu	37	chr8	41581127	41581127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgttgcccctgcgggaggCgatgtgcagtggcgtgatgc	17	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:41581127C>T	uc003xok.2	-	8	820	c.736G>A	c.(736-738)GCC>ACC	p.A246T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.A246T|ANK1_uc003xoj.2_Missense_Mutation_p.A246T|ANK1_uc003xol.2_Missense_Mutation_p.A246T|ANK1_uc003xom.2_Missense_Mutation_p.A279T	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	246	ANK 7.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTGCGGGAGGCGATGTGCAGT	0.632													T	41581127	C	T	41581127	3	4	27	1	0	0	0	0	1	0	0	0	620	768	27	1	5403	1	ANK1	8	41581127	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	61	41581127	104782895	4091	28042											
AP3M2	10947	broad.mit.edu	37	chr8	42019935	42019935	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatgcaattattgataaatcAggtaggtgcttttaatatgt	9	3	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:42019935A>T	uc003xop.2	+	5	873	c.582A>T	c.(580-582)TCA>TCT	p.S194S	AP3M2_uc003xoo.2_Silent_p.S194S|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Silent_p.S79S|AP3M2_uc003xor.1_Silent_p.S194S	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	194	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			TTGATAAATCAGGTAGGTGCT	0.353													T	42019935	A	T	42019935	2	4	27	1	0	0	0	0	0	0	0	1	748	202	7	5		5	AP3M2	8	42019935	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	438808	42019935	104344087	4092	28043											
AP3M2	10947	broad.mit.edu	37	chr8	42023011	42023011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaacgctgggaatctgagCgcatcctctccttcatccct	7	15	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:42023011C>T	uc003xop.2	+	7	1027	c.736C>T	c.(736-738)CGC>TGC	p.R246C	AP3M2_uc003xoo.2_Missense_Mutation_p.R246C|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Missense_Mutation_p.R131C|AP3M2_uc003xor.1_Missense_Mutation_p.R246C	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	246	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GGAATCTGAGCGCATCCTCTC	0.478													T	42023011	C	T	42023011	3	4	27	1	0	0	0	0	1	0	0	0	748	768	27	1	754	1	AP3M2	8	42023011	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3076	42023011	104341011	4093	28044											
AP3M2	10947	broad.mit.edu	37	chr8	42024863	42024864	+	Frame_Shift_Del	DEL	AC	AC	-													gccttactccatcacaggggAcacacacattcgacccagtc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:42024862_42024863GAC>G	uc003xop.3	+	7	1275_1276	c.984_985GAC>G	c.(982-987)gggacafs	p.G328fs	AP3M2_uc003xoo.3_Frame_Shift_Del_p.G328fs|AP3M2_uc010lxe.3_Intron	NM_001134296	NP_006794	P53677	AP3M2_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 2 subunit (AP3M2), transcript variant 1, mRNA.	328	MHD.				intracellular protein transport|vesicle-mediated transport	Golgi apparatus|clathrin adaptor complex				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			CATCACAGGGGACACACACATT	0.525													-	42024864	AC	-	42024863	7	5	27	1	0	1	0	1	0	0	0	0	748	275	10	0	1007	0	AP3M2	8	42024863	Frame_Shift_Del	DEL	AC	TCGA-BR-6452-01A-12D-1800-08	1852	42024863	104339159	4094	28045											
AP3M2	10947	broad.mit.edu	37	chr8	42025322	42025322	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaagatccagcagctggccAtttctggtaagtgacccaga	10	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:42025322A>G	uc003xop.2	+	9	1441	c.1150A>G	c.(1150-1152)ATT>GTT	p.I384V	AP3M2_uc003xoo.2_Missense_Mutation_p.I384V|AP3M2_uc010lxe.2_RNA	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	384	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GCAGCTGGCCATTTCTGGTAA	0.512													G	42025322	A	G	42025322	3	3	27	1	0	0	0	0	1	0	0	0	748	217	8	3	1176	3	AP3M2	8	42025322	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	459	42025322	104338700	4095	28046											
C8orf40	114926	broad.mit.edu	37	chr8	42401751	42401751	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatgtatgccaaaaggTaaatttttgtttctcagggt	8	6	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:42401751T>C	uc011lcv.1	+	2	183	c.134_splice	c.e2+2	p.R45_splice	C8orf40_uc003xph.2_Splice_Site_p.R45_splice|C8orf40_uc003xpg.2_Splice_Site_p.R45_splice|C8orf40_uc010lxo.2_Splice_Site_p.R45_splice	NM_001135676	NP_001129148	Q96E16	CH040_HUMAN	hypothetical protein LOC114926							cytoplasm|integral to membrane|nucleolus					0	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGCCAAAAGGTAAATTTTTGT	0.313													C	42401751	T	C	42401751	5	2	27	1	0	0	0	0	0	0	1	0	2426	1652	57	3	138	3	C8orf40	8	42401751	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	376429	42401751	103962271	4096	28047											
HOOK3	84376	broad.mit.edu	37	chr8	42857261	42857261	+	Frame_Shift_Del	DEL	A	A	-													catttttagtcagtccttctAaaaaagaagcttgaagaaca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:42857260_42857260TA>T	uc003xpr.3	+	16	1873	c.1631_1631TA>T	c.(1630-1632)ctafs	p.L544fs		NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	Homo sapiens hook homolog 3 (Drosophila) (HOOK3), mRNA.	544					Golgi localization|cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	FHF complex|cis-Golgi network|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TCAGTCCTTCTAAAAAAGAAG	0.289			T	RET	papillary thyroid								-	42857261	A	-	42857261	7	5	27	1	0	1	0	1	0	0	0	0	7284	349	13	0	1698	0	HOOK3	8	42857261	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	455510	42857261	103506761	4097	28048											
FNTA	2339	broad.mit.edu	37	chr8	42932477	42932477	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctaacaccactggctacaAtgatcgtgctgtattggaga	9	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:42932477A>G	uc003xps.2	+	6	800	c.752A>G	c.(751-753)AAT>AGT	p.N251S	FNTA_uc003xpt.2_Missense_Mutation_p.N160S|FNTA_uc003xpu.2_Missense_Mutation_p.N184S|FNTA_uc003xpv.2_RNA	NM_002027	NP_002018	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha isoform a	251					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			ovary(1)	1	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ACTGGCTACAATGATCGTGCT	0.318													G	42932477	A	G	42932477	3	3	27	1	0	0	0	0	1	0	0	0	5977	101	4	3	774	3	FNTA	8	42932477	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	75216	42932477	103431545	4098	28049											
SGK196	84197	broad.mit.edu	37	chr8	42977574	42977574	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggcacacgggtcatgTgcgactccaacgacctgccg	13	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:42977574T>A	uc003xpw.2	+	5	866	c.607T>A	c.(607-609)TGC>AGC	p.C203S		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	protein kinase-like protein SgK196	203	Protein kinase.					integral to membrane	ATP binding|protein kinase activity				0						ACGGGTCATGTGCGACTCCAA	0.532													A	42977574	T	A	42977574	3	1	27	1	0	0	0	0	1	0	0	0	14208	1696	59	5	613	5	SGK196	8	42977574	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	45097	42977574	103386448	4099	28050											
POTEA	340441	broad.mit.edu	37	chr8	43147761	43147761	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcaagaacaacatgggtgCttggagagaccacgacgaca	13	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:43147761C>A	uc003xpz.1	+	1	177	c.134C>A	c.(133-135)GCT>GAT	p.A45D	POTEA_uc003xqa.1_Missense_Mutation_p.A45D	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	45										ovary(1)	1						AACATGGGTGCTTGGAGAGAC	0.597													A	43147761	C	A	43147761	3	1	27	1	0	0	0	0	1	0	0	0	12261	797	28	5	136	5	POTEA	8	43147761	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	170187	43147761	103216261	4100	28051											
KIAA0146	23514	broad.mit.edu	37	chr8	48309037	48309037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatcccctcacaaataccaCgtgcagtttgcatcggatgc	8	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:48309037C>T	uc003xqd.2	+	6	636	c.627C>T	c.(625-627)CAC>CAT	p.H209H	KIAA0146_uc011lcz.1_Intron|KIAA0146_uc011lda.1_Intron|KIAA0146_uc011ldb.1_Silent_p.H209H|KIAA0146_uc010lxs.2_Translation_Start_Site|KIAA0146_uc011ldc.1_Silent_p.H139H|KIAA0146_uc011ldd.1_Silent_p.H149H|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	209											0		Lung NSC(58;0.175)				ACAAATACCACGTGCAGTTTG	0.383													T	48309037	C	T	48309037	2	4	27	1	0	0	0	0	0	0	0	1	8157	535	19	1		1	KIAA0146	8	48309037	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5161276	48309037	98054985	4101	28052											
KIAA0146	23514	broad.mit.edu	37	chr8	48613001	48613001	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttgattgacaccctgtgGcccccagcgatacctctgaa	9	13	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:48613001G>A	uc003xqd.2	+	12	1731	c.1722G>A	c.(1720-1722)TGG>TGA	p.W574*	KIAA0146_uc011ldb.1_Nonsense_Mutation_p.W574*|KIAA0146_uc010lxs.2_Nonsense_Mutation_p.W49*|KIAA0146_uc011ldc.1_Nonsense_Mutation_p.W504*|KIAA0146_uc011ldd.1_Nonsense_Mutation_p.W514*|KIAA0146_uc003xqe.2_Nonsense_Mutation_p.W49*|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Nonsense_Mutation_p.W263*|KIAA0146_uc010lxt.2_Nonsense_Mutation_p.W263*|KIAA0146_uc011ldf.1_Nonsense_Mutation_p.W79*|KIAA0146_uc011ldg.1_Nonsense_Mutation_p.W64*|KIAA0146_uc010lxv.1_Nonsense_Mutation_p.W68*	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	574											0		Lung NSC(58;0.175)				ACACCCTGTGGCCCCCAGCGA	0.522													A	48613001	G	A	48613001	4	1	27	1	0	0	0	0	0	1	0	0	8157	1212	42	2	1768	2	KIAA0146	8	48613001	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	303964	48613001	97751021	4102	28053											
KIAA0146	23514	broad.mit.edu	37	chr8	48647993	48647993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcttctgagtgcaggagGggcctctgcagaacactagc	14	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:48647993G>A	uc003xqd.2	+	20	2738	c.2729G>A	c.(2728-2730)GGG>GAG	p.G910E	KIAA0146_uc011ldc.1_Missense_Mutation_p.G840E|KIAA0146_uc011ldd.1_Silent_p.R850R|KIAA0146_uc003xqe.2_Missense_Mutation_p.G385E|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc010lxt.2_3'UTR|KIAA0146_uc011ldf.1_Missense_Mutation_p.G415E|KIAA0146_uc011ldg.1_Missense_Mutation_p.G400E|KIAA0146_uc003xqg.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	910											0		Lung NSC(58;0.175)				AGTGCAGGAGGGGCCTCTGCA	0.527													A	48647993	G	A	48647993	3	1	27	1	0	0	0	0	1	0	0	0	8157	1232	43	4	2807	4	KIAA0146	8	48647993	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	34992	48647993	97716029	4103	28054											
PRKDC	5591	broad.mit.edu	37	chr8	48689516	48689516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcttgaatccatgaccctCcttttttcagcattttctgt	4	11	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:48689516C>T	uc003xqi.2	-	86	12128	c.12071G>A	c.(12070-12072)GGA>GAA	p.G4024E	PRKDC_uc003xqj.2_Missense_Mutation_p.G3993E|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	4024					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCATGACCCTCCTTTTTTCAG	0.363								NHEJ					T	48689516	C	T	48689516	3	4	27	1	0	0	0	0	1	0	0	0	12521	855	30	4	323	4	PRKDC	8	48689516	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	41523	48689516	97674506	4104	28055											
EFCAB1	79645	broad.mit.edu	37	chr8	49643102	49643102	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaacctgcaatcttacattTcattttttcttccaaagatc	2	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:49643102T>C	uc003xqo.2	-	3	476	c.316A>G	c.(316-318)AAA>GAA	p.K106E	EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Missense_Mutation_p.K54E|EFCAB1_uc010lxx.2_RNA|EFCAB1_uc011ldk.1_RNA	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1 isoform a	106	EF-hand 2.						calcium ion binding				0		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				ATCTTACATTTCATTTTTTCT	0.343													C	49643102	T	C	49643102	3	2	27	1	0	0	0	0	1	0	0	0	4933	1792	62	3	335	3	EFCAB1	8	49643102	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	953586	49643102	96720920	4105	28056											
SNAI2	6591	broad.mit.edu	37	chr8	49832964	49832964	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggttgtggtatgacaggcAtggagtaactctcatagaga	13	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:49832964A>G	uc003xqp.2	-	2	280	c.116T>C	c.(115-117)ATG>ACG	p.M39T		NM_003068	NP_003059	O43623	SNAI2_HUMAN	snail 2	39					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TATGACAGGCATGGAGTAACT	0.473													G	49832964	A	G	49832964	3	3	27	1	0	0	0	0	1	0	0	0	14827	217	8	3	698	3	SNAI2	8	49832964	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	189862	49832964	96531058	4106	28057											
SNTG1	54212	broad.mit.edu	37	chr8	51415351	51415351	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaggttcaggttcttcGgaatgctggagaagaagtga	13	5	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:51415351G>T	uc010lxy.1	+	10	748	c.377G>T	c.(376-378)CGG>CTG	p.R126L	SNTG1_uc003xqs.1_Missense_Mutation_p.R126L|SNTG1_uc010lxz.1_Missense_Mutation_p.R126L|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	126	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CAGGTTCTTCGGAATGCTGGA	0.333													T	51415351	G	T	51415351	3	4	27	1	0	0	0	0	1	0	0	0	14874	1116	39	5	403	5	SNTG1	8	51415351	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1582387	51415351	94948671	4107	28058											
PXDNL	137902	broad.mit.edu	37	chr8	52321321	52321321	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcccggtggtccccggccaGgaaacaggggctctcctgct	15	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:52321321G>T	uc003xqu.3	-	17	2964	c.2863C>A	c.(2863-2865)CTG>ATG	p.L955M	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	955					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCCCCGGCCAGGAAACAGGGG	0.652													T	52321321	G	T	52321321	3	4	27	1	0	0	0	0	1	0	0	0	12848	991	35	5	1556	5	PXDNL	8	52321321	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	905970	52321321	94042701	4108	28059											
PXDNL	137902	broad.mit.edu	37	chr8	52321557	52321557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagactgaatccaccgtcGcagagggacggccgctggca	13	13	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:52321557G>A	uc003xqu.3	-	17	2728	c.2627C>T	c.(2626-2628)GCG>GTG	p.A876V	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	876					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATCCACCGTCGCAGAGGGACG	0.657													A	52321557	G	A	52321557	3	1	27	1	0	0	0	0	1	0	0	0	12848	1087	38	1	1792	1	PXDNL	8	52321557	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	236	52321557	94042465	4109	28060											
ST18	9705	broad.mit.edu	37	chr8	53077746	53077746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccccttcctgtgcatcccGgcgtgggacacttgagcaca	11	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:53077746G>A	uc003xqz.2	-	7	1400	c.1244C>T	c.(1243-1245)CCG>CTG	p.P415L	ST18_uc011ldq.1_Missense_Mutation_p.P62L|ST18_uc011ldr.1_Missense_Mutation_p.P380L|ST18_uc011lds.1_Missense_Mutation_p.P320L|ST18_uc003xra.2_Missense_Mutation_p.P415L|ST18_uc003xrb.2_Missense_Mutation_p.P415L	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	415	C2HC-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGTGCATCCCGGCGTGGGACA	0.403													A	53077746	G	A	53077746	3	1	27	1	0	0	0	0	1	0	0	0	15211	1116	39	1	1959	1	ST18	8	53077746	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	756189	53077746	93286276	4110	28061											
ST18	9705	broad.mit.edu	37	chr8	53084434	53084434	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctaggtgctccagcaggaaCctatccagctctttgtaggt	11	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:53084434C>A	uc003xqz.2	-	5	1143	c.987G>T	c.(985-987)AGG>AGT	p.R329S	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.R294S|ST18_uc011lds.1_Missense_Mutation_p.R234S|ST18_uc003xra.2_Missense_Mutation_p.R329S|ST18_uc003xrb.2_Missense_Mutation_p.R329S	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	329						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCAGCAGGAACCTATCCAGCT	0.458													A	53084434	C	A	53084434	3	1	27	1	0	0	0	0	1	0	0	0	15211	506	18	5	2224	5	ST18	8	53084434	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6688	53084434	93279588	4111	28062											
ST18	9705	broad.mit.edu	37	chr8	53084924	53084924	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgaatcagaaagcacTcgtctgcttcatcgctctct	7	12	4	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:53084924T>A	uc003xqz.2	-	5	653	c.497A>T	c.(496-498)GAG>GTG	p.E166V	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.E131V|ST18_uc011lds.1_Missense_Mutation_p.E71V|ST18_uc003xra.2_Missense_Mutation_p.E166V|ST18_uc003xrb.2_Missense_Mutation_p.E166V	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	166						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CAGAAAGCACTCGTCTGCTTC	0.393													A	53084924	T	A	53084924	3	1	27	1	0	0	0	0	1	0	0	0	15211	1551	54	5	2714	5	ST18	8	53084924	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	490	53084924	93279098	4112	28063											
RB1CC1	9821	broad.mit.edu	37	chr8	53569953	53569953	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggtcttccttaatggtttgTatactgaagtgagagtcttg	11	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:53569953T>A	uc003xre.3	-	15	2994	c.2436A>T	c.(2434-2436)ATA>ATT	p.I812I	RB1CC1_uc003xrf.3_Silent_p.I812I	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	812					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TAATGGTTTGTATACTGAAGT	0.353													A	53569953	T	A	53569953	2	1	27	1	0	0	0	0	0	0	0	1	13099	1628	57	5		5	RB1CC1	8	53569953	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	485029	53569953	92794069	4113	28064											
NPBWR1	2831	broad.mit.edu	37	chr8	53853261	53853261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgcctcctctgctggaCgccctaccacctgagcaccg	11	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:53853261C>T	uc011ldu.1	+	1	794	c.794C>T	c.(793-795)ACG>ATG	p.T265M		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	265	Helical; Name=6; (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CTCTGCTGGACGCCCTACCAC	0.667													T	53853261	C	T	53853261	3	4	27	1	0	0	0	0	1	0	0	0	10568	536	19	1	796	1	NPBWR1	8	53853261	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	283308	53853261	92510761	4114	28065											
OPRK1	4986	broad.mit.edu	37	chr8	54142295	54142295	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgatgaggacagggatcacGaaggcaaagatgaagacgca	14	6	1	5	rs112014812	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:54142295G>A	uc003xrh.1	-	3	1080	c.705C>T	c.(703-705)TTC>TTT	p.F235F	OPRK1_uc003xri.1_Silent_p.F235F|OPRK1_uc010lyc.1_Silent_p.F146F	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	235	Helical; Name=5; (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CAGGGATCACGAAGGCAAAGA	0.532													A	54142295	G	A	54142295	2	1	27	1	0	0	0	0	0	0	0	1	10885	1049	37	1		1	OPRK1	8	54142295	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	289034	54142295	92221727	4115	28066											
OPRK1	4986	broad.mit.edu	37	chr8	54163422	54163422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccgccgtgatgatgaccGggatggccggggagatgtgc	18	9	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:54163422G>A	uc003xrh.1	-	1	551	c.176C>T	c.(175-177)CCG>CTG	p.P59L	OPRK1_uc003xri.1_Missense_Mutation_p.P59L|OPRK1_uc010lyc.1_5'UTR	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	59	Helical; Name=1; (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GATGATGACCGGGATGGCCGG	0.687													A	54163422	G	A	54163422	3	1	27	1	0	0	0	0	1	0	0	0	10885	1116	39	1	978	1	OPRK1	8	54163422	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	21127	54163422	92200600	4116	28067											
ATP6V1H	51606	broad.mit.edu	37	chr8	54708210	54708210	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacataaaacacttacacgAaatgctgcaagaatgattct	5	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:54708210A>G	uc003xrl.2	-	9	1019	c.867T>C	c.(865-867)TTT>TTC	p.F289F	ATP6V1H_uc003xrk.2_Silent_p.F249F|ATP6V1H_uc003xrm.2_Silent_p.F289F|ATP6V1H_uc003xrn.2_Silent_p.F271F|ATP6V1H_uc011ldv.1_Silent_p.F209F|ATP6V1H_uc010lyd.2_Silent_p.F225F	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	289					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			CACTTACACGAAATGCTGCAA	0.383													G	54708210	A	G	54708210	2	3	27	1	0	0	0	0	0	0	0	1	1189	243	9	3		3	ATP6V1H	8	54708210	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	544788	54708210	91655812	4117	28068											
ATP6V1H	51606	broad.mit.edu	37	chr8	54708265	54708265	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgacagactcctgaaggataTcagacagaactggaatgata	10	7	1	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:54708265T>A	uc003xrl.2	-	9	964	c.812A>T	c.(811-813)GAT>GTT	p.D271V	ATP6V1H_uc003xrk.2_Missense_Mutation_p.D231V|ATP6V1H_uc003xrm.2_Missense_Mutation_p.D271V|ATP6V1H_uc003xrn.2_Missense_Mutation_p.D253V|ATP6V1H_uc011ldv.1_Missense_Mutation_p.D191V|ATP6V1H_uc010lyd.2_Missense_Mutation_p.D207V	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	271					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			CTGAAGGATATCAGACAGAAC	0.393													A	54708265	T	A	54708265	3	1	27	1	0	0	0	0	1	0	0	0	1189	1435	50	5	663	5	ATP6V1H	8	54708265	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	55	54708265	91655757	4118	28069											
ATP6V1H	51606	broad.mit.edu	37	chr8	54708289	54708289	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagaactggaatgatattaTagcgccgcaggtgttcacac	10	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:54708289T>C	uc003xrl.2	-	9	940	c.788A>G	c.(787-789)TAT>TGT	p.Y263C	ATP6V1H_uc003xrk.2_Missense_Mutation_p.Y223C|ATP6V1H_uc003xrm.2_Missense_Mutation_p.Y263C|ATP6V1H_uc003xrn.2_Missense_Mutation_p.Y245C|ATP6V1H_uc011ldv.1_Missense_Mutation_p.Y183C|ATP6V1H_uc010lyd.2_Missense_Mutation_p.Y199C	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	263					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			AATGATATTATAGCGCCGCAG	0.403													C	54708289	T	C	54708289	3	2	27	1	0	0	0	0	1	0	0	0	1189	1406	49	3	687	3	ATP6V1H	8	54708289	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	24	54708289	91655733	4119	28070											
TCEA1	6917	broad.mit.edu	37	chr8	54891698	54891698	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctttggtcaagttttTccgcatctctttcagctcat	7	11	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:54891698T>C	uc003xru.2	-	8	1035	c.712A>G	c.(712-714)AAA>GAA	p.K238E	TCEA1_uc003xrv.2_Missense_Mutation_p.K217E|TCEA1_uc011ldw.1_Missense_Mutation_p.K54E|TCEA1_uc010lyg.2_RNA	NM_006756	NP_006747	P23193	TCEA1_HUMAN	transcription elongation factor A 1 isoform 1	238	TFIIS central.				positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding				0		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			GTCAAGTTTTTCCGCATCTCT	0.428			T	PLAG1	salivary adenoma								C	54891698	T	C	54891698	3	2	27	1	0	0	0	0	1	0	0	0	15664	1792	62	3	205	3	TCEA1	8	54891698	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	183409	54891698	91472324	4120	28071											
RP1	6101	broad.mit.edu	37	chr8	55533931	55533931	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagccgggccattagcgcGcactcaccgccccaccccgt	10	20	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:55533931G>A	uc003xsd.1	+	2	553	c.405G>A	c.(403-405)GCG>GCA	p.A135A	RP1_uc011ldy.1_Silent_p.A135A	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	135					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.A135V(1)		skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCATTAGCGCGCACTCACCGC	0.692													A	55533931	G	A	55533931	2	1	27	1	0	0	0	0	0	0	0	1	13532	1074	38	1		1	RP1	8	55533931	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	642233	55533931	90830091	4121	28072											
RP1	6101	broad.mit.edu	37	chr8	55534073	55534073	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacccagagcttcgaggcaTttctacagcacctgacagag	9	13	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:55534073T>C	uc003xsd.1	+	2	695	c.547T>C	c.(547-549)TTT>CTT	p.F183L	RP1_uc011ldy.1_Missense_Mutation_p.F183L	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	183	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTTCGAGGCATTTCTACAGCA	0.637													C	55534073	T	C	55534073	3	2	27	1	0	0	0	0	1	0	0	0	13532	1493	52	3	549	3	RP1	8	55534073	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	142	55534073	90829949	4122	28073											
RP1	6101	broad.mit.edu	37	chr8	55534123	55534123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccctgtggtcaagctgtaCgctacggacggaaggagggt	16	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:55534123C>T	uc003xsd.1	+	2	745	c.597C>T	c.(595-597)TAC>TAT	p.Y199Y	RP1_uc011ldy.1_Silent_p.Y199Y	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	199	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAAGCTGTACGCTACGGACG	0.577													T	55534123	C	T	55534123	2	4	27	1	0	0	0	0	0	0	0	1	13532	547	19	1		1	RP1	8	55534123	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	50	55534123	90829899	4123	28074											
XKR4	114786	broad.mit.edu	37	chr8	56015541	56015541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgcaagtgttcagcttcCgctggtttgtgcacgatttc	12	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:56015541C>T	uc003xsf.2	+	1	525	c.493C>T	c.(493-495)CGC>TGC	p.R165C		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	165						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			GTTCAGCTTCCGCTGGTTTGT	0.662													T	56015541	C	T	56015541	3	4	27	1	0	0	0	0	1	0	0	0	17430	652	23	1	495	1	XKR4	8	56015541	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	481418	56015541	90348481	4124	28075											
LYN	4067	broad.mit.edu	37	chr8	56863306	56863306	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaccaggaaatagcgcTggagctttccttattagaga	11	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:56863306T>C	uc003xsk.3	+	6	732	c.450T>C	c.(448-450)GCT>GCC	p.A150A	LYN_uc003xsl.3_Silent_p.A129A	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	150	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			GAAATAGCGCTGGAGCTTTCC	0.353													C	56863306	T	C	56863306	2	2	27	1	0	0	0	0	0	0	0	1	9107	1567	55	3		3	LYN	8	56863306	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	847765	56863306	89500716	4125	28076											
LYN	4067	broad.mit.edu	37	chr8	56910922	56910922	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagattgcagagggaatggcAtacatcgagcggaagaacta	13	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:56910922A>T	uc003xsk.3	+	11	1350	c.1068A>T	c.(1066-1068)GCA>GCT	p.A356A	LYN_uc003xsl.3_Silent_p.A335A	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	356	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			AGGGAATGGCATACATCGAGC	0.458													T	56910922	A	T	56910922	2	4	27	1	0	0	0	0	0	0	0	1	9107	204	8	5		5	LYN	8	56910922	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	47616	56910922	89453100	4126	28077											
LYN	4067	broad.mit.edu	37	chr8	56922616	56922616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtttgactacttacagagcGtcctggatgatttctacaca	8	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:56922616G>A	uc003xsk.3	+	13	1768	c.1486G>A	c.(1486-1488)GTC>ATC	p.V496I	LYN_uc003xsl.3_Missense_Mutation_p.V475I	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	496	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			CTTACAGAGCGTCCTGGATGA	0.517													A	56922616	G	A	56922616	3	1	27	1	0	0	0	0	1	0	0	0	9107	1145	40	1	1532	1	LYN	8	56922616	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	11694	56922616	89441406	4127	28078											
MOS	4342	broad.mit.edu	37	chr8	57025752	57025752	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagagagtgatggcaaaggAataaatgtcggctttaggcg	14	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:57025752A>G	uc011leb.1	-	1	790	c.790T>C	c.(790-792)TCC>CCC	p.S264P		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	264	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			ATGGCAAAGGAATAAATGTCG	0.602													G	57025752	A	G	57025752	3	3	27	1	0	0	0	0	1	0	0	0	9712	246	9	3	253	3	MOS	8	57025752	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	103136	57025752	89338270	4128	28079											
MOS	4342	broad.mit.edu	37	chr8	57026295	57026295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacttgctttatggccacagGaacaccgcggtaagtcgcct	10	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:57026295G>A	uc011leb.1	-	1	247	c.247C>T	c.(247-249)CCT>TCT	p.P83S		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	83	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			ATGGCCACAGGAACACCGCGG	0.582													A	57026295	G	A	57026295	3	1	27	1	0	0	0	0	1	0	0	0	9712	1174	41	4	796	4	MOS	8	57026295	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	543	57026295	89337727	4129	28080											
PLAG1	5324	broad.mit.edu	37	chr8	57079567	57079567	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtcaaggaaatccactggTtctgttttgaccttcagaag	11	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:57079567T>G	uc003xsq.3	-	3	1189	c.738A>C	c.(736-738)GAA>GAC	p.E246D	PLAG1_uc003xsr.3_Missense_Mutation_p.E246D|PLAG1_uc010lyi.2_Missense_Mutation_p.E246D|PLAG1_uc010lyj.2_Missense_Mutation_p.E164D	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	246	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			AATCCACTGGTTCTGTTTTGA	0.448			T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma								G	57079567	T	G	57079567	3	3	27	1	0	0	0	0	1	0	0	0	12018	1722	60	5	768	5	PLAG1	8	57079567	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	53272	57079567	89284455	4130	28081											
PLAG1	5324	broad.mit.edu	37	chr8	57079616	57079616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgactcttcttcatatgtCgagtcaggtgatcctttcgc	9	10	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:57079616C>T	uc003xsq.3	-	3	1140	c.689G>A	c.(688-690)CGA>CAA	p.R230Q	PLAG1_uc003xsr.3_Missense_Mutation_p.R230Q|PLAG1_uc010lyi.2_Missense_Mutation_p.R230Q|PLAG1_uc010lyj.2_Missense_Mutation_p.R148Q	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	230	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.|C2H2-type 7.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CTTCATATGTCGAGTCAGGTG	0.458			T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma								T	57079616	C	T	57079616	3	4	27	1	0	0	0	0	1	0	0	0	12018	884	31	1	817	1	PLAG1	8	57079616	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	49	57079616	89284406	4131	28082											
CHCHD7	79145	broad.mit.edu	37	chr8	57129004	57129004	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtaaggaatctgatgctTccaccagatgtctggatgaa	10	8	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:57129004T>C	uc003xsx.2	+	3	165	c.67T>C	c.(67-69)TCC>CCC	p.S23P	CHCHD7_uc003xss.2_Silent_p.L49L|CHCHD7_uc003xst.2_Silent_p.L62L|CHCHD7_uc003xsu.2_Missense_Mutation_p.S35P|CHCHD7_uc003xsv.2_Missense_Mutation_p.S48P|CHCHD7_uc003xsw.2_Silent_p.L37L	NM_001011671	NP_001011671	Q9BUK0	CHCH7_HUMAN	coiled-coil-helix-coiled-coil-helix domain	23	CHCH.								CHCHD7/PLAG1(12)	salivary_gland(12)	12		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00159)|all cancers(17;0.0112)			ATCTGATGCTTCCACCAGATG	0.373			T	PLAG1	salivary adenoma								C	57129004	T	C	57129004	3	2	27	1	0	0	0	0	1	0	0	0	3321	1783	62	3	196	3	CHCHD7	8	57129004	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	49388	57129004	89235018	4132	28083											
SDR16C5	195814	broad.mit.edu	37	chr8	57218238	57218238	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aatagcttctactattttttCaactgcatattttggttcca	4	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:57218238C>G	uc003xsy.1	-	6	1392	c.754G>C	c.(754-756)GAA>CAA	p.E252Q	SDR16C5_uc010lyk.1_Missense_Mutation_p.E252Q|SDR16C5_uc010lyl.1_Missense_Mutation_p.E208Q	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	epidermal retinal dehydrogenase 2	252					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			ovary(1)|central_nervous_system(1)|skin(1)	3						ACTATTTTTTCAACTGCATAT	0.303													G	57218238	C	G	57218238	3	3	27	1	0	0	0	0	1	0	0	0	13971	835	29	5	183	5	SDR16C5	8	57218238	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	89234	57218238	89145784	4133	28084											
IMPAD1	54928	broad.mit.edu	37	chr8	57890688	57890688	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacacaccatagtagtgacGtactttcgaagatcctctat	6	11	1	2	rs144109066	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:57890688G>A	uc003xte.3	-	3	850	c.567C>T	c.(565-567)TAC>TAT	p.Y189Y		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	189						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			ovary(1)	1		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				TAGTAGTGACGTACTTTCGAA	0.333													A	57890688	G	A	57890688	2	1	27	1	0	0	0	0	0	0	0	1	7725	1140	40	1		1	IMPAD1	8	57890688	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	672450	57890688	88473334	4134	28085											
SDCBP	6386	broad.mit.edu	37	chr8	59493089	59493089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatcaggactctcaaattgCagacatactgtcaacatctg	6	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:59493089C>T	uc003xtn.2	+	8	914	c.764C>T	c.(763-765)GCA>GTA	p.A255V	SDCBP_uc003xto.2_Missense_Mutation_p.A254V|SDCBP_uc003xtr.2_Missense_Mutation_p.A254V|SDCBP_uc003xtp.2_Missense_Mutation_p.A249V|SDCBP_uc003xtq.2_Missense_Mutation_p.A255V|SDCBP_uc003xts.2_Missense_Mutation_p.A261V|SDCBP_uc011led.1_Missense_Mutation_p.A196V	NM_005625	NP_005616	O00560	SDCB1_HUMAN	syntenin isoform 1	255	PDZ 2.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding				0		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TCTCAAATTGCAGACATACTG	0.308													T	59493089	C	T	59493089	3	4	27	1	0	0	0	0	1	0	0	0	13955	710	25	2	790	2	SDCBP	8	59493089	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1602401	59493089	86870933	4135	28086											
NSMAF	8439	broad.mit.edu	37	chr8	59506822	59506822	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaatactgaagatccattGcgagagaccgtgattccagt	11	8	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:59506822G>A	uc003xtt.2	-	23	2134	c.1920C>T	c.(1918-1920)CGC>CGT	p.R640R	NSMAF_uc011lee.1_Silent_p.R671R	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	640	WD 1.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)				AAGATCCATTGCGAGAGACCG	0.403													A	59506822	G	A	59506822	2	1	27	1	0	0	0	0	0	0	0	1	10674	1306	46	2		2	NSMAF	8	59506822	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	13733	59506822	86857200	4136	28087											
NSMAF	8439	broad.mit.edu	37	chr8	59515915	59515915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccactgcagcatgtagCtctcagcagtgtgctccgcc	11	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:59515915C>T	uc003xtt.2	-	13	1113	c.899G>A	c.(898-900)AGC>AAC	p.S300N	NSMAF_uc011lee.1_Missense_Mutation_p.S331N|NSMAF_uc003xtu.2_Missense_Mutation_p.S300N	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	300	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)				CAGCATGTAGCTCTCAGCAGT	0.557													T	59515915	C	T	59515915	3	4	27	1	0	0	0	0	1	0	0	0	10674	797	28	2	1930	2	NSMAF	8	59515915	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	9093	59515915	86848107	4137	28088											
CHD7	55636	broad.mit.edu	37	chr8	61743114	61743114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggaattgcggaagtgctgCaatcatccgtaccttatcaa	9	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:61743114C>T	uc003xue.2	+	15	4233	c.3756C>T	c.(3754-3756)TGC>TGT	p.C1252C		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1252					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAAGTGCTGCAATCATCCGT	0.473													T	61743114	C	T	61743114	2	4	27	1	0	0	0	0	0	0	0	1	3330	718	25	2		2	CHD7	8	61743114	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2227199	61743114	84620908	4138	28089											
CHD7	55636	broad.mit.edu	37	chr8	61764653	61764653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccctgactacacgtctgcGccggctcattactgcctatc	7	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:61764653G>A	uc003xue.2	+	29	6218	c.5741G>A	c.(5740-5742)CGC>CAC	p.R1914H		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1914					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACACGTCTGCGCCGGCTCATT	0.522													A	61764653	G	A	61764653	3	1	27	1	0	0	0	0	1	0	0	0	3330	1087	38	1	5851	1	CHD7	8	61764653	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	21539	61764653	84599369	4139	28090											
YTHDF3	253943	broad.mit.edu	37	chr8	64099143	64099143	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagtattgagcaaggcatgActggactgaaaattggtggt	14	5	0	3	rs13255728		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:64099143A>T	uc003xuy.2	+	5	890	c.574A>T	c.(574-576)ACT>TCT	p.T192S	YTHDF3_uc010lys.2_Missense_Mutation_p.T136S|YTHDF3_uc003xuz.2_Missense_Mutation_p.T136S|YTHDF3_uc003xva.2_Missense_Mutation_p.T136S|YTHDF3_uc011len.1_Missense_Mutation_p.T136S	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	192											0	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			GCAAGGCATGACTGGACTGAA	0.458													T	64099143	A	T	64099143	3	4	27	1	0	0	0	0	1	0	0	0	17497	288	10	5	587	5	YTHDF3	8	64099143	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2334490	64099143	82264879	4140	28091											
BHLHE22	27319	broad.mit.edu	37	chr8	65494116	65494116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagagcgccggcggatgcacGacctgaacgacgcgctggac	16	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:65494116G>A	uc003xvi.2	+	1	1303	c.769G>A	c.(769-771)GAC>AAC	p.D257N	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	257	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						GCGGATGCACGACCTGAACGA	0.522													A	65494116	G	A	65494116	3	1	27	1	0	0	0	0	1	0	0	0	1421	1058	37	1	771	1	BHLHE22	8	65494116	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1394973	65494116	80869906	4141	28092											
MTFR1	9650	broad.mit.edu	37	chr8	66619259	66619259	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaggtgacttagattctAccacatttggtaccatacca	7	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:66619259A>G	uc003xvm.2	+	6	744	c.532A>G	c.(532-534)ACC>GCC	p.T178A	MTFR1_uc011lep.1_Missense_Mutation_p.T178A|MTFR1_uc003xvn.2_Missense_Mutation_p.T145A|MTFR1_uc003xvo.1_Missense_Mutation_p.T168A	NM_014637	NP_055452	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1 isoform 1	178						mitochondrion|plasma membrane				pancreas(1)	1			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			CTTAGATTCTACCACATTTGG	0.443													G	66619259	A	G	66619259	3	3	27	1	0	0	0	0	1	0	0	0	9925	391	14	3	550	3	MTFR1	8	66619259	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1125143	66619259	79744763	4142	28093											
MTFR1	9650	broad.mit.edu	37	chr8	66620183	66620183	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcggtatcgaagtgatagCcaagatgaagttgaaaaagg	12	4	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:66620183C>T	uc003xvm.2	+	7	1082	c.870C>T	c.(868-870)AGC>AGT	p.S290S	MTFR1_uc011lep.1_Silent_p.S290S|MTFR1_uc003xvn.2_Silent_p.S257S|MTFR1_uc003xvo.1_Silent_p.S280S	NM_014637	NP_055452	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1 isoform 1	290						mitochondrion|plasma membrane				pancreas(1)	1			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GAAGTGATAGCCAAGATGAAG	0.448													T	66620183	C	T	66620183	2	4	27	1	0	0	0	0	0	0	0	1	9925	738	26	2		2	MTFR1	8	66620183	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	924	66620183	79743839	4143	28094											
PDE7A	5150	broad.mit.edu	37	chr8	66651787	66651787	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aatggaagtactcaattaatCcatgaagactaaataaatga	6	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:66651787C>A	uc003xvq.2	-	6	557	c.545G>T	c.(544-546)GGA>GTA	p.G182V	PDE7A_uc003xvr.2_Missense_Mutation_p.G182V|PDE7A_uc003xvp.2_Missense_Mutation_p.G156V	NM_002604	NP_002595	Q13946	PDE7A_HUMAN	phosphodiesterase 7A isoform b	182						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding				0			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	CTCAATTAATCCATGAAGACT	0.279													A	66651787	C	A	66651787	3	1	27	1	0	0	0	0	1	0	0	0	11651	855	30	5	967	5	PDE7A	8	66651787	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	31604	66651787	79712235	4144	28095											
DNAJC5B	85479	broad.mit.edu	37	chr8	66963796	66963796	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagaaaatggcatgtaacaTacctaaccaaagacagcgga	8	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:66963796T>C	uc003xvs.1	+	3	305	c.14T>C	c.(13-15)ATA>ACA	p.I5T	DNAJC5B_uc003xvt.1_RNA	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	5					protein folding	membrane	heat shock protein binding|unfolded protein binding				0		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			GCATGTAACATACCTAACCAA	0.418													C	66963796	T	C	66963796	3	2	27	1	0	0	0	0	1	0	0	0	4651	1406	49	3	16	3	DNAJC5B	8	66963796	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	312009	66963796	79400226	4145	28096											
ADHFE1	137872	broad.mit.edu	37	chr8	67364293	67364293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcaacccaatcagtgaCatttgggctatccacgcgct	10	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:67364293C>T	uc003xwb.3	+	9	874	c.840C>T	c.(838-840)GAC>GAT	p.D280D	ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Silent_p.D232D|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_RNA|ADHFE1_uc011les.1_Silent_p.D210D|ADHFE1_uc011leq.1_RNA|ADHFE1_uc011ler.1_RNA	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	280					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CAATCAGTGACATTTGGGCTA	0.577													T	67364293	C	T	67364293	2	4	27	1	0	0	0	0	0	0	0	1	314	477	17	4		4	ADHFE1	8	67364293	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	400497	67364293	78999729	4146	28097											
VCPIP1	80124	broad.mit.edu	37	chr8	67577516	67577516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctagaattagttctgtctcCatccaaatacacaatagacc	4	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:67577516C>T	uc003xwn.2	-	1	1937	c.1678G>A	c.(1678-1680)GGA>AGA	p.G560R	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	560					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GTTCTGTCTCCATCCAAATAC	0.448													T	67577516	C	T	67577516	3	4	27	1	0	0	0	0	1	0	0	0	17138	603	21	4	2002	4	VCPIP1	8	67577516	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	213223	67577516	78786506	4147	28098											
C8orf44	56260	broad.mit.edu	37	chr8	67592020	67592020	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagcagaaaaggcaaaAggggtctttggccatcttct	13	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:67592020A>G	uc003xwo.1	+	3	464	c.311A>G	c.(310-312)AAG>AGG	p.K104R	SGK3_uc003xwp.2_5'UTR|C8orf44_uc003xwq.1_Missense_Mutation_p.K104R	NM_019607	NP_062553	Q96CB5	CH044_HUMAN	hypothetical protein LOC56260	104											0	Breast(64;0.186)		Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AAAAGGCAAAAGGGGTCTTTG	0.413													G	67592020	A	G	67592020	3	3	27	1	0	0	0	0	1	0	0	0	2429	72	3	3	317	3	C8orf44	8	67592020	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	14504	67592020	78772002	4148	28099											
CSPP1	79848	broad.mit.edu	37	chr8	68076737	68076737	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacagtgatgatgaaattcCtatcaggcaagtttagaatt	10	5	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:68076737C>A	uc003xxi.2	+	24	2943	c.2912C>A	c.(2911-2913)CCT>CAT	p.P971H	CSPP1_uc003xxj.2_Missense_Mutation_p.P936H|CSPP1_uc003xxk.2_Missense_Mutation_p.P591H|CSPP1_uc010lyw.2_Missense_Mutation_p.P31H	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	971						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GATGAAATTCCTATCAGGCAA	0.368													A	68076737	C	A	68076737	3	1	27	1	0	0	0	0	1	0	0	0	3962	681	24	5	3006	5	CSPP1	8	68076737	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	484717	68076737	78287285	4149	28100											
ARFGEF1	10565	broad.mit.edu	37	chr8	68150610	68150610	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaattcatcaggagccTgatcttttgttccagtaaga	7	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:68150610T>C	uc003xxo.1	-	22	3647	c.3257A>G	c.(3256-3258)CAG>CGG	p.Q1086R	ARFGEF1_uc003xxl.1_Missense_Mutation_p.Q540R|ARFGEF1_uc003xxn.1_Missense_Mutation_p.Q69R	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1086					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATCAGGAGCCTGATCTTTTGT	0.393													C	68150610	T	C	68150610	3	2	27	1	0	0	0	0	1	0	0	0	852	1580	55	3	2364	3	ARFGEF1	8	68150610	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	73873	68150610	78213412	4150	28101											
ARFGEF1	10565	broad.mit.edu	37	chr8	68184006	68184007	+	Frame_Shift_Ins	INS	-	-	A													atatagaaagagaaagctcaINSaaaacctctggaacagatga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:68184005_68184006C>CA	uc003xxo.2	-	9	1893_1894	c.1503_1504G>TG	c.(1501-1506)tttgagfs	p.F501fs		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	501					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGAGAAAGCTCAAAAACCTCTG	0.332													A	68184007	-	A	68184006	7	5	27	1	0	1	1	0	0	0	0	0	852	127	5	0	4166	0	ARFGEF1	8	68184006	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	33396	68184006	78180016	4151	28102											
ARFGEF1	10565	broad.mit.edu	37	chr8	68208816	68208816	+	Silent	SNP	G	G	A													gtcccttcatgaatttctatGtgttgtgatgttactgcagt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:68208816G>A	uc003xxo.1	-	5	879	c.489C>T	c.(487-489)CAC>CAT	p.H163H		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	163					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAATTTCTATGTGTTGTGATG	0.279													A	68208816	G	A	68208816	2	1	27	1	0	0	0	0	0	0	0	1	852	1368	48	4		4	ARFGEF1	8	68208816	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	24810	68208816	78155206	4152	28103	97	2									
ARFGEF1	10565	broad.mit.edu	37	chr8	68208822	68208822	+	Silent	SNP	T	T	C													tcatgaatttctatgtgttgTgatgttactgcagtaagtaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:68208822T>C	uc003xxo.1	-	5	873	c.483A>G	c.(481-483)TCA>TCG	p.S161S		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	161					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTATGTGTTGTGATGTTACTG	0.269													C	68208822	T	C	68208822	2	2	27	1	0	0	0	0	0	0	0	1	852	1683	59	3		3	ARFGEF1	8	68208822	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	6	68208822	78155200	4153	28104	97	2									
CPA6	57094	broad.mit.edu	37	chr8	68658339	68658339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaaagcagctgcctggCccctgcgcttcccgagacac	12	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:68658339C>T	uc003xxq.3	-	1	282	c.26G>A	c.(25-27)GGC>GAC	p.G9D	CPA6_uc003xxr.3_5'UTR|CPA6_uc003xxs.2_Missense_Mutation_p.G9D	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6 isoform 1 precursor	9					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AGCTGCCTGGCCCCTGCGCTT	0.537													T	68658339	C	T	68658339	3	4	27	1	0	0	0	0	1	0	0	0	3794	739	26	2	1331	2	CPA6	8	68658339	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	449517	68658339	77705683	4154	28105											
PREX2	80243	broad.mit.edu	37	chr8	68939498	68939498	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggaagaacacagatgttccCttggaaggatatttagtaac	10	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:68939498C>A	uc003xxv.1	+	5	510	c.483C>A	c.(481-483)CCC>CCA	p.P161P	PREX2_uc003xxu.1_Silent_p.P161P|PREX2_uc011lez.1_Silent_p.P96P	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	161	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CAGATGTTCCCTTGGAAGGAT	0.353													A	68939498	C	A	68939498	2	1	27	1	0	0	0	0	0	0	0	1	12477	668	24	5		5	PREX2	8	68939498	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	281159	68939498	77424524	4155	28106											
PREX2	80243	broad.mit.edu	37	chr8	68956765	68956765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacagatggacatcggtacCtttttcgtggccggatcaac	10	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:68956765C>T	uc003xxv.1	+	8	910	c.883C>T	c.(883-885)CTT>TTT	p.L295F	PREX2_uc003xxu.1_Missense_Mutation_p.L295F|PREX2_uc011lez.1_Missense_Mutation_p.L230F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	295	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						ACATCGGTACCTTTTTCGTGG	0.403													T	68956765	C	T	68956765	3	4	27	1	0	0	0	0	1	0	0	0	12477	681	24	4	913	4	PREX2	8	68956765	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	17267	68956765	77407257	4156	28107											
PREX2	80243	broad.mit.edu	37	chr8	68965388	68965388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggaagatacataacacaGcaaaaaataaatggtttgtt	8	4	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:68965388G>A	uc003xxv.1	+	9	1027	c.1000G>A	c.(1000-1002)GCA>ACA	p.A334T	PREX2_uc003xxu.1_Missense_Mutation_p.A334T|PREX2_uc011lez.1_Missense_Mutation_p.A269T	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	334	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						ACATAACACAGCAAAAAATAA	0.363													A	68965388	G	A	68965388	3	1	27	1	0	0	0	0	1	0	0	0	12477	971	34	2	1034	2	PREX2	8	68965388	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	8623	68965388	77398634	4157	28108											
PREX2	80243	broad.mit.edu	37	chr8	68993075	68993075	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagggatctaatgctgaggTaatgtaaattagcgttttaa	10	3	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:68993075T>C	uc003xxv.1	+	17	1905	c.1878_splice	c.e17+2	p.E626_splice	PREX2_uc003xxu.1_Splice_Site_p.E626_splice|PREX2_uc011lez.1_Splice_Site_p.E561_splice	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a						G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						AATGCTGAGGTAATGTAAATT	0.289													C	68993075	T	C	68993075	5	2	27	1	0	0	0	0	0	0	1	0	12477	1652	57	3	1946	3	PREX2	8	68993075	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	27687	68993075	77370947	4158	28109											
PREX2	80243	broad.mit.edu	37	chr8	69011996	69011996	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctctaaatgaagtgattcCtactgaccttcagagtaaat	6	8	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:69011996C>A	uc003xxv.1	+	23	2660	c.2633C>A	c.(2632-2634)CCT>CAT	p.P878H	PREX2_uc003xxu.1_Missense_Mutation_p.P878H|PREX2_uc011lez.1_Missense_Mutation_p.P813H	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	878					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GAAGTGATTCCTACTGACCTT	0.343													A	69011996	C	A	69011996	3	1	27	1	0	0	0	0	1	0	0	0	12477	681	24	5	2723	5	PREX2	8	69011996	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	18921	69011996	77352026	4159	28110											
PREX2	80243	broad.mit.edu	37	chr8	69039639	69039639	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtgtaggctactcctggctCttcttgaatattcaggtaac	9	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:69039639C>T	uc003xxv.1	+	31	3778	c.3751C>T	c.(3751-3753)CTT>TTT	p.L1251F		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1251					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						ACTCCTGGCTCTTCTTGAATA	0.358													T	69039639	C	T	69039639	3	4	27	1	0	0	0	0	1	0	0	0	12477	913	32	4	4102	4	PREX2	8	69039639	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	27643	69039639	77324383	4160	28111											
C8orf34	116328	broad.mit.edu	37	chr8	69351824	69351824	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaacaagggaaccgtggaCaacttcaaagaactttgtct	8	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:69351824C>T	uc010lyz.2	+	2	209	c.160C>T	c.(160-162)CAA>TAA	p.Q54*	C8orf34_uc010lyx.1_Nonsense_Mutation_p.Q54*|C8orf34_uc010lyy.1_Nonsense_Mutation_p.Q54*|C8orf34_uc003xyb.2_Nonsense_Mutation_p.Q29*	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	54					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GAACCGTGGACAACTTCAAAG	0.398													T	69351824	C	T	69351824	4	4	27	1	0	0	0	0	0	1	0	0	2422	479	17	4	87	4	C8orf34	8	69351824	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	312185	69351824	77012198	4161	28112											
SULF1	23213	broad.mit.edu	37	chr8	70512941	70512941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttacaaacattctacagCgcaaaaggctccagactttg	6	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:70512941C>T	uc010lza.1	+	9	1555	c.838C>T	c.(838-840)CGC>TGC	p.R280C	SULF1_uc003xyd.2_Missense_Mutation_p.R280C|SULF1_uc003xye.2_Missense_Mutation_p.R280C|SULF1_uc003xyf.2_Missense_Mutation_p.R280C|SULF1_uc003xyg.2_Missense_Mutation_p.R280C|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	280					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CATTCTACAGCGCAAAAGGCT	0.433													T	70512941	C	T	70512941	3	4	27	1	0	0	0	0	1	0	0	0	15369	768	27	1	856	1	SULF1	8	70512941	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1161117	70512941	75851081	4162	28113											
SLCO5A1	81796	broad.mit.edu	37	chr8	70588860	70588860	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaccaagtgttcgcaacaaAacaaactgcattcccagtgc	7	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:70588860A>C	uc003xyl.2	-	9	2780	c.2073T>G	c.(2071-2073)GTT>GTG	p.V691V	SLCO5A1_uc010lzb.2_Silent_p.V636V|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Intron	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	691	Helical; Name=11; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TTCGCAACAAAACAAACTGCA	0.413													C	70588860	A	C	70588860	2	2	27	1	0	0	0	0	0	0	0	1	14731	1	1	5		5	SLCO5A1	8	70588860	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	75919	70588860	75775162	4163	28114											
PRDM14	63978	broad.mit.edu	37	chr8	70971024	70971024	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgcttatctctgtaatAtttgtaggtaaataccttcc	8	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:70971024A>G	uc003xym.2	-	6	1439	c.1237T>C	c.(1237-1239)TAT>CAT	p.Y413H		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	413	C2H2-type 1; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCTCTGTAATATTTGTAGGTA	0.463													G	70971024	A	G	70971024	3	3	27	1	0	0	0	0	1	0	0	0	12455	449	16	3	490	3	PRDM14	8	70971024	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	382164	70971024	75392998	4164	28115											
PRDM14	63978	broad.mit.edu	37	chr8	70980555	70980555	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaaacctgactcctttggcGataaaactactgcagaacac	6	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:70980555G>A	uc003xym.2	-	4	1024	c.822C>T	c.(820-822)ATC>ATT	p.I274I		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	274	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CTCCTTTGGCGATAAAACTAC	0.478													A	70980555	G	A	70980555	2	1	27	1	0	0	0	0	0	0	0	1	12455	1048	37	1		1	PRDM14	8	70980555	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	9531	70980555	75383467	4165	28116											
NCOA2	10499	broad.mit.edu	37	chr8	71060570	71060570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgacagggctgttttcaGctgtgagttgcatgaggtca	15	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:71060570G>A	uc003xyn.1	-	12	2705	c.2543C>T	c.(2542-2544)GCT>GTT	p.A848V	NCOA2_uc011lfb.1_Missense_Mutation_p.A5V	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	848					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GCTGTTTTCAGCTGTGAGTTG	0.488			T	RUNXBP2	AML						OREG0018819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	71060570	G	A	71060570	3	1	27	1	0	0	0	0	1	0	0	0	10229	971	34	2	1899	2	NCOA2	8	71060570	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	80015	71060570	75303452	4166	28117											
NCOA2	10499	broad.mit.edu	37	chr8	71068691	71068691	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggagtttggtctgccCtttgctgtcatgcagtctgc	12	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:71068691C>A	uc003xyn.1	-	11	2071	c.1909G>T	c.(1909-1911)GGG>TGG	p.G637W		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	637					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TTGGTCTGCCCTTTGCTGTCA	0.562			T	RUNXBP2	AML								A	71068691	C	A	71068691	3	1	27	1	0	0	0	0	1	0	0	0	10229	681	24	5	2537	5	NCOA2	8	71068691	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	8121	71068691	75295331	4167	28118											
EYA1	2138	broad.mit.edu	37	chr8	72234492	72234492	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtcgtgggctgaaactacTgctcccaattgctggaaaac	11	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:72234492T>C	uc003xys.3	-	4	501	c.214A>G	c.(214-216)AGT>GGT	p.S72G	EYA1_uc003xyr.3_Missense_Mutation_p.S72G|EYA1_uc003xyt.3_Missense_Mutation_p.S39G|EYA1_uc010lzf.2_5'UTR|EYA1_uc003xyu.2_Missense_Mutation_p.S72G|EYA1_uc011lfe.1_Missense_Mutation_p.S72G|EYA1_uc003xyv.2_5'UTR	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	72					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTGAAACTACTGCTCCCAATT	0.343													C	72234492	T	C	72234492	3	2	27	1	0	0	0	0	1	0	0	0	5328	1580	55	3	1620	3	EYA1	8	72234492	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1165801	72234492	74129530	4168	28119											
MSC	9242	broad.mit.edu	37	chr8	72755945	72755945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacagctgccgcaggtgagCgatgtaactggaagccagcc	13	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:72755945C>T	uc003xyx.1	-	1	787	c.469G>A	c.(469-471)GCT>ACT	p.A157T	uc011lff.1_Intron|uc003xyy.2_5'Flank	NM_005098	NP_005089	O60682	MUSC_HUMAN	musculin	157	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CGCAGGTGAGCGATGTAACTG	0.637											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	72755945	C	T	72755945	3	4	27	1	0	0	0	0	1	0	0	0	9868	768	27	1	159	1	MSC	8	72755945	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	521453	72755945	73608077	4169	28120											
TRPA1	8989	broad.mit.edu	37	chr8	72981364	72981364	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgagaagaaacttaacgCtttcaatttggtttttttct	7	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:72981364C>A	uc003xza.2	-	3	513	c.338G>T	c.(337-339)AGC>ATC	p.S113I		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	113	Cytoplasmic (Potential).|ANK 2.					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	AAACTTAACGCTTTCAATTTG	0.403													A	72981364	C	A	72981364	3	1	27	1	0	0	0	0	1	0	0	0	16574	797	28	5	3121	5	TRPA1	8	72981364	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	225419	72981364	73382658	4170	28121											
TRPA1	8989	broad.mit.edu	37	chr8	72987597	72987597	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatagacaacgccctggggCtccttcttttctccagggcg	10	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:72987597C>A	uc003xza.2	-	1	223	c.48G>T	c.(46-48)GAG>GAT	p.E16D		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	16	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	CGCCCTGGGGCTCCTTCTTTT	0.637													A	72987597	C	A	72987597	3	1	27	1	0	0	0	0	1	0	0	0	16574	796	28	5	3419	5	TRPA1	8	72987597	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6233	72987597	73376425	4171	28122											
KCNB2	9312	broad.mit.edu	37	chr8	73480200	73480200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagcctcctggaagtgtgCgacgactataatctgaacga	12	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:73480200C>T	uc003xzb.2	+	2	819	c.231C>T	c.(229-231)TGC>TGT	p.C77C		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	77	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			TGGAAGTGTGCGACGACTATA	0.522													T	73480200	C	T	73480200	2	4	27	1	0	0	0	0	0	0	0	1	8013	776	27	1		1	KCNB2	8	73480200	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	492603	73480200	72883822	4172	28123											
KCNB2	9312	broad.mit.edu	37	chr8	73848595	73848595	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcggagttacaatgaattGggcttgttgatattgtttct	12	4	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:73848595G>T	uc003xzb.2	+	3	1593	c.1005G>T	c.(1003-1005)TTG>TTT	p.L335F		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	335	Helical; Name=Segment S5; (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			ACAATGAATTGGGCTTGTTGA	0.473													T	73848595	G	T	73848595	3	4	27	1	0	0	0	0	1	0	0	0	8013	1339	47	5	1011	5	KCNB2	8	73848595	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	368395	73848595	72515427	4173	28124											
KCNB2	9312	broad.mit.edu	37	chr8	73848886	73848886	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcagaaacgccaagagaaAgcaattaaaaggagggaggc	14	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:73848886A>G	uc003xzb.2	+	3	1884	c.1296A>G	c.(1294-1296)AAA>AAG	p.K432K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	432	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			GCCAAGAGAAAGCAATTAAAA	0.438													G	73848886	A	G	73848886	2	3	27	1	0	0	0	0	0	0	0	1	8013	69	3	3		3	KCNB2	8	73848886	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	291	73848886	72515136	4174	28125											
KCNB2	9312	broad.mit.edu	37	chr8	73848931	73848931	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcgggccaaaaggaacggAagcatcgtttctatgaactt	12	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:73848931A>G	uc003xzb.2	+	3	1929	c.1341A>G	c.(1339-1341)GGA>GGG	p.G447G		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	447	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			AAAGGAACGGAAGCATCGTTT	0.448													G	73848931	A	G	73848931	2	3	27	1	0	0	0	0	0	0	0	1	8013	233	9	3		3	KCNB2	8	73848931	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	45	73848931	72515091	4175	28126											
KCNB2	9312	broad.mit.edu	37	chr8	73849687	73849687	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgacaatgccaccgacagTcctaagagctctctaaaagg	8	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:73849687T>C	uc003xzb.2	+	3	2685	c.2097T>C	c.(2095-2097)AGT>AGC	p.S699S		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	699	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			CCACCGACAGTCCTAAGAGCT	0.522													C	73849687	T	C	73849687	2	2	27	1	0	0	0	0	0	0	0	1	8013	1664	58	3		3	KCNB2	8	73849687	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	756	73849687	72514335	4176	28127											
RPL7	6129	broad.mit.edu	37	chr8	74203895	74203895	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactgacttcagattggggtAcctgaagtgaaaaagcaaac	10	7	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:74203895A>G	uc003xzg.2	-	5	452	c.430T>C	c.(430-432)TAC>CAC	p.Y144H	RPL7_uc003xzh.1_Missense_Mutation_p.Y104H	NM_000971	NP_000962	P18124	RL7_HUMAN	ribosomal protein L7	144					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome				0	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			AGATTGGGGTACCTGAAGTGA	0.343													G	74203895	A	G	74203895	3	3	27	1	0	0	0	0	1	0	0	0	13599	405	14	3	324	3	RPL7	8	74203895	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	354208	74203895	72160127	4177	28128											
PI15	51050	broad.mit.edu	37	chr8	75757705	75757705	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctgtgtggcgacgtgcagTttacttggtatgcaactatg	12	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:75757705T>C	uc003yal.2	+	5	793	c.614T>C	c.(613-615)GTT>GCT	p.V205A	uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.V205A	NM_015886	NP_056970	O43692	PI15_HUMAN	protease inhibitor 15 preproprotein	205						extracellular region	peptidase inhibitor activity			central_nervous_system(2)|ovary(1)	3	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CGACGTGCAGTTTACTTGGTA	0.423													C	75757705	T	C	75757705	3	2	27	1	0	0	0	0	1	0	0	0	11868	1725	60	3	628	3	PI15	8	75757705	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1553810	75757705	70606317	4178	28129											
HNF4G	3174	broad.mit.edu	37	chr8	76470782	76470782	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgttattcaccgcaacagcTgtgaagttgagattagccgt	10	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:76470782T>A	uc003yaq.2	+	8	892	c.622T>A	c.(622-624)TGT>AGT	p.C208S	HNF4G_uc003yar.2_Missense_Mutation_p.C245S	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	208					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CCGCAACAGCTGTGAAGTTGA	0.363													A	76470782	T	A	76470782	3	1	27	1	0	0	0	0	1	0	0	0	7254	1580	55	5	759	5	HNF4G	8	76470782	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	713077	76470782	69893240	4179	28130											
ZFHX4	79776	broad.mit.edu	37	chr8	77767582	77767582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacttcatcgattaatacgGcaatcagtgacgccaccacc	7	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:77767582G>A	uc003yav.2	+	10	8677	c.8290G>A	c.(8290-8292)GCA>ACA	p.A2764T	ZFHX4_uc003yau.1_Missense_Mutation_p.A2809T|ZFHX4_uc003yaw.1_Missense_Mutation_p.A2764T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2764						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GATTAATACGGCAATCAGTGA	0.473										HNSCC(33;0.089)			A	77767582	G	A	77767582	3	1	27	1	0	0	0	0	1	0	0	0	17632	1203	42	2	8459	2	ZFHX4	8	77767582	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1296800	77767582	68596440	4180	28131											
IL7	3574	broad.mit.edu	37	chr8	79646004	79646004	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acaagtttttatctcttgtaAtagtctctttaggaaacaca	5	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:79646004A>T	uc003ybg.2	-	6	1079	c.478T>A	c.(478-480)TTA>ATA	p.L160I	IL7_uc003ybe.2_Missense_Mutation_p.L75I|IL7_uc011lfm.1_RNA|IL7_uc003ybh.2_RNA|IL7_uc003ybi.3_RNA	NM_000880	NP_000871	P13232	IL7_HUMAN	interleukin 7 precursor	160					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding				0						ATCTCTTGTAATAGTCTCTTT	0.299													T	79646004	A	T	79646004	3	4	27	1	0	0	0	0	1	0	0	0	7704	98	4	5	59	5	IL7	8	79646004	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1878422	79646004	66718018	4181	28132											
TPD52	7163	broad.mit.edu	37	chr8	80965534	80965534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgcagatgttgctgtcacGtcttgccaccctttggcaat	9	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:80965534G>A	uc003ybr.1	-	3	709	c.387C>T	c.(385-387)GAC>GAT	p.D129D	TPD52_uc010lzr.2_RNA|TPD52_uc010lzs.1_RNA|TPD52_uc003ybs.1_Silent_p.D89D|TPD52_uc003ybt.1_Silent_p.D89D|TPD52_uc003ybq.1_RNA|TPD52_uc003ybu.1_RNA	NM_001025252	NP_001020423	P55327	TPD52_HUMAN	tumor protein D52 isoform 1	129					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			ovary(1)	1	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			TTGCTGTCACGTCTTGCCACC	0.438													A	80965534	G	A	80965534	2	1	27	1	0	0	0	0	0	0	0	1	16394	1136	40	1		1	TPD52	8	80965534	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1319530	80965534	65398488	4182	28133											
ZBTB10	65986	broad.mit.edu	37	chr8	81431715	81431715	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagaagatcagaatgatccCtctcgatgggatgaatcagg	13	7	3	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:81431715C>A	uc003ybx.3	+	6	3166	c.2568C>A	c.(2566-2568)CCC>CCA	p.P856P	ZBTB10_uc003ybv.3_Silent_p.P564P|ZBTB10_uc003ybw.3_Silent_p.P832P|ZBTB10_uc010lzt.2_Silent_p.P854P	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10 isoform	856					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)	1	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			AGAATGATCCCTCTCGATGGG	0.423													A	81431715	C	A	81431715	2	1	27	1	0	0	0	0	0	0	0	1	17520	668	24	5		5	ZBTB10	8	81431715	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	466181	81431715	64932307	4183	28134											
PAG1	55824	broad.mit.edu	37	chr8	81897148	81897148	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctggatcacatgaatttcCaaggatactctctacattaa	5	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:81897148C>A	uc003ybz.2	-	7	1450	c.739G>T	c.(739-741)GGA>TGA	p.G247*		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid	247	Cytoplasmic (Potential).				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity				0	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			CATGAATTTCCAAGGATACTC	0.498													A	81897148	C	A	81897148	4	1	27	1	0	0	0	0	0	1	0	0	11388	603	21	5	571	5	PAG1	8	81897148	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	465433	81897148	64466874	4184	28135											
PAG1	55824	broad.mit.edu	37	chr8	81897578	81897578	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtctggacttcctcgtaatgCtgcatgcaggtcagagtact	11	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:81897578C>G	uc003ybz.2	-	7	1020	c.309G>C	c.(307-309)CAG>CAC	p.Q103H		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid	103	Cytoplasmic (Potential).				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity				0	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			CCTCGTAATGCTGCATGCAGG	0.483													G	81897578	C	G	81897578	3	3	27	1	0	0	0	0	1	0	0	0	11388	796	28	5	1001	5	PAG1	8	81897578	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	430	81897578	64466444	4185	28136											
FABP5	2171	broad.mit.edu	37	chr8	82196782	82196782	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaatgtcacctgtactcggAtctatgaaaaagtagaataa	7	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:82196782A>G	uc003yca.1	+	4	436	c.388A>G	c.(388-390)ATC>GTC	p.I130V		NM_001444	NP_001435	Q01469	FABP5_HUMAN	fatty acid binding protein 5	130	Fatty acid binding (By similarity).				epidermis development	cytoplasm	fatty acid binding|protein binding|transporter activity				0	Lung NSC(7;3.57e-05)|all_lung(9;0.00011)		Epithelial(68;0.102)			CTGTACTCGGATCTATGAAAA	0.363													G	82196782	A	G	82196782	3	3	27	1	0	0	0	0	1	0	0	0	5360	333	12	3	402	3	FABP5	8	82196782	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	299204	82196782	64167240	4186	28137											
IMPA1	3612	broad.mit.edu	37	chr8	82593741	82593741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttagctcatacctctccagCttgtcttgctagagttactg	7	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:82593741C>T	uc003ych.2	-	2	182	c.55G>A	c.(55-57)GCT>ACT	p.A19T	IMPA1_uc011lfq.1_Missense_Mutation_p.A78T|IMPA1_uc011lfr.1_Missense_Mutation_p.A19T	NM_005536	NP_005527	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1 isoform	19					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			skin(1)	1					Lithium(DB01356)	ACCTCTCCAGCTTGTCTTGCT	0.353													T	82593741	C	T	82593741	3	4	27	1	0	0	0	0	1	0	0	0	7722	797	28	2	810	2	IMPA1	8	82593741	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	396959	82593741	63770281	4187	28138											
E2F5	1875	broad.mit.edu	37	chr8	86121514	86121514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctgatgacctcacacaGccttcctcccagtccttgac	5	19	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:86121514G>A	uc003ycz.3	+	6	790	c.753G>A	c.(751-753)CAG>CAA	p.Q251Q	E2F5_uc003yda.3_Silent_p.Q251Q|E2F5_uc010mab.2_Silent_p.Q90Q|E2F5_uc003ydb.3_Silent_p.Q70Q	NM_001951	NP_001942	Q15329	E2F5_HUMAN	E2F transcription factor 5 isoform 1	251					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1						ACCTCACACAGCCTTCCTCCC	0.493													A	86121514	G	A	86121514	2	1	27	1	0	0	0	0	0	0	0	1	4870	962	34	2		2	E2F5	8	86121514	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3527773	86121514	60242508	4188	28139											
C8orf59	401466	broad.mit.edu	37	chr8	86127243	86127243	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttatttactctgttaacTttttcctcattcataatgtt	3	8	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:86127243T>G	uc010mac.1	-	4	378	c.138A>C	c.(136-138)AAA>AAC	p.K46N	C8orf59_uc003ydd.2_Missense_Mutation_p.K46N|C8orf59_uc010mad.1_Missense_Mutation_p.K46N|C8orf59_uc003yde.2_Missense_Mutation_p.K46N|uc003ydc.1_RNA|C8orf59_uc011lfu.1_Intron	NM_001099670	NP_001093140	Q8N0T1	CH059_HUMAN	hypothetical protein LOC401466	46											0						CTCTGTTAACTTTTTCCTCAT	0.289													G	86127243	T	G	86127243	3	3	27	1	0	0	0	0	1	0	0	0	2434	1606	56	5	166	5	C8orf59	8	86127243	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	5729	86127243	60236779	4189	28140											
CA3	761	broad.mit.edu	37	chr8	86360305	86360305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccagtgctgagaacgagCccccagtgcctcttgtgagc	11	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:86360305C>T	uc003ydj.2	+	7	789	c.706C>T	c.(706-708)CCC>TCC	p.P236S	CA3_uc011lfv.1_RNA	NM_005181	NP_005172	P07451	CAH3_HUMAN	carbonic anhydrase III	236					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0						TGAGAACGAGCCCCCAGTGCC	0.557													T	86360305	C	T	86360305	3	4	27	1	0	0	0	0	1	0	0	0	2517	739	26	2	732	2	CA3	8	86360305	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	233062	86360305	60003717	4190	28141											
SLC7A13	157724	broad.mit.edu	37	chr8	87230005	87230005	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggtagaaatagcaaaaggCataatccatgctaatgaggg	12	5	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:87230005C>A	uc003ydq.1	-	3	971	c.873G>T	c.(871-873)ATG>ATT	p.M291I	SLC7A13_uc003ydr.1_Missense_Mutation_p.M282I	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	291	Helical; Name=8; (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1						TAGCAAAAGGCATAATCCATG	0.373													A	87230005	C	A	87230005	3	1	27	1	0	0	0	0	1	0	0	0	14695	710	25	5	547	5	SLC7A13	8	87230005	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	869700	87230005	59134017	4191	28142											
WWP1	11059	broad.mit.edu	37	chr8	87443720	87443720	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagatccaagaactcaaggGtatgtatatacagcagcctt	9	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:87443720G>T	uc003ydt.2	+	13	1752	c.1472_splice	c.e13+1	p.G491_splice	WWP1_uc010mai.2_Splice_Site_p.G267_splice	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase						central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			lung(1)|liver(1)	2						GAACTCAAGGGTATGTATATA	0.363													T	87443720	G	T	87443720	5	4	27	1	0	0	0	0	0	0	1	0	17412	1275	44	5	1515	5	WWP1	8	87443720	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	213715	87443720	58920302	4192	28143											
CNGB3	54714	broad.mit.edu	37	chr8	87638291	87638291	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccgtagttggtagggtctTaagcaaatcagactcatctt	10	8	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:87638291T>C	uc003ydx.2	-	13	1544	c.1498A>G	c.(1498-1500)AAG>GAG	p.K500E	CNGB3_uc010maj.2_Missense_Mutation_p.K362E	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	500	Extracellular (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						GGTAGGGTCTTAAGCAAATCA	0.368													C	87638291	T	C	87638291	3	2	27	1	0	0	0	0	1	0	0	0	3601	1763	61	3	955	3	CNGB3	8	87638291	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	194571	87638291	58725731	4193	28144											
CNGB3	54714	broad.mit.edu	37	chr8	87751940	87751940	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agttgacttggttttgagagAtttctcttcacctttgtttt	8	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:87751940A>T	uc003ydx.2	-	2	200	c.154T>A	c.(154-156)TCT>ACT	p.S52T		NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	52	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						GTTTTGAGAGATTTCTCTTCA	0.318													T	87751940	A	T	87751940	3	4	27	1	0	0	0	0	1	0	0	0	3601	333	12	5	2343	5	CNGB3	8	87751940	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	113649	87751940	58612082	4194	28145											
MMP16	4325	broad.mit.edu	37	chr8	89086947	89086947	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatccatcaccctgttgtTtctcactcgccaaaaccact	3	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:89086947T>C	uc003yeb.3	-	7	1390	c.1108A>G	c.(1108-1110)AAC>GAC	p.N370D	MMP16_uc003yec.2_Missense_Mutation_p.N370D	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	370	Extracellular (Potential).|Hemopexin-like 1.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						ACCCTGTTGTTTCTCACTCGC	0.498													C	89086947	T	C	89086947	3	2	27	1	0	0	0	0	1	0	0	0	9655	1841	64	3	887	3	MMP16	8	89086947	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1335007	89086947	57277075	4195	28146											
MMP16	4325	broad.mit.edu	37	chr8	89128833	89128833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gataggagggtctgccggttGgaggccgaggaggttttggc	20	6	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:89128833G>A	uc003yeb.3	-	6	1268	c.986C>T	c.(985-987)CCA>CTA	p.P329L	MMP16_uc003yec.2_Missense_Mutation_p.P329L	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	329	Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						TCTGCCGGTTGGAGGCCGAGG	0.522													A	89128833	G	A	89128833	3	1	27	1	0	0	0	0	1	0	0	0	9655	1348	47	4	1013	4	MMP16	8	89128833	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	41886	89128833	57235189	4196	28147											
RIPK2	8767	broad.mit.edu	37	chr8	90802434	90802434	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagggacttgatcatgaaAgaggactatgaacttgttag	11	6	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:90802434A>C	uc003yee.2	+	11	1727	c.1413A>C	c.(1411-1413)AAA>AAC	p.K471N	RIPK2_uc003yef.2_Missense_Mutation_p.K334N	NM_003821	NP_003812	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	471	CARD.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TGATCATGAAAGAGGACTATG	0.438													C	90802434	A	C	90802434	3	2	27	1	0	0	0	0	1	0	0	0	13381	69	3	5	1455	5	RIPK2	8	90802434	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1673601	90802434	55561588	4197	28148											
SLC26A7	115111	broad.mit.edu	37	chr8	92374603	92374603	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatatgggtcagtacatatgTatttacaatatgctttgctg	8	5	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:92374603T>C	uc003yex.2	+	13	1615	c.1337T>C	c.(1336-1338)GTA>GCA	p.V446A	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.V446A|SLC26A7_uc003yfa.2_Missense_Mutation_p.V446A	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	446	Extracellular (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGTACATATGTATTTACAATA	0.388													C	92374603	T	C	92374603	3	2	27	1	0	0	0	0	1	0	0	0	14522	1638	57	3	1379	3	SLC26A7	8	92374603	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1572169	92374603	53989419	4198	28149											
RBM12B	389677	broad.mit.edu	37	chr8	94745668	94745668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaacttttcggggcccaaCtggcctatcatttagatctt	7	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:94745668C>T	uc003yfz.2	-	3	3164	c.2971G>A	c.(2971-2973)GTT>ATT	p.V991I		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	991	RRM 4.						nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CGGGGCCCAACTGGCCTATCA	0.368													T	94745668	C	T	94745668	3	4	27	1	0	0	0	0	1	0	0	0	13114	565	20	4	38	4	RBM12B	8	94745668	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2371065	94745668	51618354	4199	28150											
RBM12B	389677	broad.mit.edu	37	chr8	94747482	94747482	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgagagtatttttgtgaaAcatgtccgggcctatctctc	9	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:94747482A>G	uc003yfz.2	-	3	1350	c.1157T>C	c.(1156-1158)GTT>GCT	p.V386A		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	386							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTTTTGTGAAACATGTCCGGG	0.368													G	94747482	A	G	94747482	3	3	27	1	0	0	0	0	1	0	0	0	13114	43	2	3	1852	3	RBM12B	8	94747482	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1814	94747482	51616540	4200	28151											
GEM	2669	broad.mit.edu	37	chr8	95262599	95262600	+	Frame_Shift_Ins	INS	-	-	T													gaaggccatattcttgttgtINSttttggccacgatcttgccc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:95262598_95262599G>GT	uc003ygi.3	-	4	954_955	c.830_831C>AC	c.(829-831)aacfs	p.N277fs	GEM_uc003ygj.3_Frame_Shift_Ins_p.N277fs	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	277	Calmodulin-binding (By similarity).				cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TATTCTTGTTGTTTTTGGCCAC	0.535													T	95262600	-	T	95262599	7	5	27	1	0	1	1	0	0	0	0	0	6329	1725	60	0	64	0	GEM	8	95262599	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	515117	95262599	51101423	4201	28152											
KIAA1429	25962	broad.mit.edu	37	chr8	95523820	95523820	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaactctgtgaagggtagTccccatgttgacatggagcc	12	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:95523820T>C	uc003ygo.1	-	13	2996	c.2983A>G	c.(2983-2985)ACT>GCT	p.T995A	KIAA1429_uc003ygp.2_Missense_Mutation_p.T995A|KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	995					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TGAAGGGTAGTCCCCATGTTG	0.433													C	95523820	T	C	95523820	3	2	27	1	0	0	0	0	1	0	0	0	8231	1667	58	3	2557	3	KIAA1429	8	95523820	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	261221	95523820	50840202	4202	28153											
DPY19L4	286148	broad.mit.edu	37	chr8	95746890	95746890	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacgctttgcaaagattttcAttggctgtcttgcagcggtt	10	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:95746890A>G	uc003ygx.2	+	3	284	c.160A>G	c.(160-162)ATT>GTT	p.I54V	DPY19L4_uc003ygy.2_5'UTR	NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	dpy-19-like 4	54	Helical; (Potential).					integral to membrane				ovary(2)	2	Breast(36;3.85e-06)					AAAGATTTTCATTGGCTGTCT	0.289													G	95746890	A	G	95746890	3	3	27	1	0	0	0	0	1	0	0	0	4743	217	8	3	170	3	DPY19L4	8	95746890	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	223070	95746890	50617132	4203	28154											
DPY19L4	286148	broad.mit.edu	37	chr8	95782721	95782721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttactcttgaagatggacGaattggagaaagaccagaaa	11	5	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:95782721G>A	uc003ygx.2	+	13	1500	c.1376G>A	c.(1375-1377)CGA>CAA	p.R459Q		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	dpy-19-like 4	459						integral to membrane				ovary(2)	2	Breast(36;3.85e-06)					GAAGATGGACGAATTGGAGAA	0.303													A	95782721	G	A	95782721	3	1	27	1	0	0	0	0	1	0	0	0	4743	1058	37	1	1426	1	DPY19L4	8	95782721	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	35831	95782721	50581301	4204	28155											
GDF6	392255	broad.mit.edu	37	chr8	97172915	97172915	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagagcaggaccctgggagtAtccatggcgggcaagtggct	17	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:97172915A>T	uc003yhp.2	-	1	106	c.6T>A	c.(4-6)GAT>GAA	p.D2E		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	2					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					CCCTGGGAGTATCCATGGCGG	0.697													T	97172915	A	T	97172915	3	4	27	1	0	0	0	0	1	0	0	0	6317	446	16	5	1369	5	GDF6	8	97172915	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1390194	97172915	49191107	4205	28156											
MTDH	92140	broad.mit.edu	37	chr8	98703401	98703401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagttggagtgaccgttcaAtattttctggcattggtaag	13	5	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:98703401A>G	uc003yhz.2	+	6	1361	c.1033A>G	c.(1033-1035)ATA>GTA	p.I345V	MTDH_uc010mbf.2_RNA	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	metadherin	345	Cytoplasmic (Potential).				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			liver(1)|central_nervous_system(1)	2	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TGACCGTTCAATATTTTCTGG	0.333													G	98703401	A	G	98703401	3	3	27	1	0	0	0	0	1	0	0	0	9917	101	4	3	1055	3	MTDH	8	98703401	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1530486	98703401	47660621	4206	28157											
MATN2	4147	broad.mit.edu	37	chr8	98943671	98943671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtccattgggagtgagccCcatgaggaccatgtcttcct	11	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:98943671C>T	uc003yic.2	+	3	864	c.633C>T	c.(631-633)CCC>CCT	p.P211P	MATN2_uc003yib.1_Silent_p.P211P|MATN2_uc010mbh.1_Silent_p.P211P|MATN2_uc003yid.2_Silent_p.P211P|MATN2_uc003yie.1_Silent_p.P211P|MATN2_uc010mbi.1_Silent_p.P85P	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	211	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GGAGTGAGCCCCATGAGGACC	0.537													T	98943671	C	T	98943671	2	4	27	1	0	0	0	0	0	0	0	1	9334	610	22	4		4	MATN2	8	98943671	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	240270	98943671	47420351	4207	28158											
MATN2	4147	broad.mit.edu	37	chr8	99039747	99039747	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtttgtcactggaattatAgattccttgacaatttcccc	6	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:99039747A>C	uc003yic.2	+	14	2277	c.2046A>C	c.(2044-2046)ATA>ATC	p.I682I	MATN2_uc010mbh.1_Silent_p.I641I|MATN2_uc003yid.2_Silent_p.I682I|MATN2_uc003yie.1_Silent_p.I682I|MATN2_uc010mbi.1_Silent_p.I515I|MATN2_uc010mbj.1_Intron|RPL30_uc010mbk.1_Intron	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	682	VWFA 2.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CTGGAATTATAGATTCCTTGA	0.483													C	99039747	A	C	99039747	2	2	27	1	0	0	0	0	0	0	0	1	9334	410	15	5		5	MATN2	8	99039747	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	96076	99039747	47324275	4208	28159											
NIPAL2	79815	broad.mit.edu	37	chr8	99248423	99248423	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattgtctttcagaaatgtAacagaaataatggcactacc	6	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:99248423A>G	uc003yil.1	-	4	652	c.396T>C	c.(394-396)GTT>GTC	p.V132V	NIPAL2_uc011lgw.1_5'UTR|NIPAL2_uc003yim.1_Silent_p.V132V	NM_024759	NP_079035	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	132						integral to membrane					0						TCAGAAATGTAACAGAAATAA	0.313													G	99248423	A	G	99248423	2	3	27	1	0	0	0	0	0	0	0	1	10425	349	13	3		3	NIPAL2	8	99248423	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	208676	99248423	47115599	4209	28160											
KCNS2	3788	broad.mit.edu	37	chr8	99440332	99440332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcgcttccccgagacgcGcctgggccgcttgctgctct	13	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:99440332G>A	uc003yin.2	+	2	475	c.125G>A	c.(124-126)CGC>CAC	p.R42H		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	42	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CCCGAGACGCGCCTGGGCCGC	0.652													A	99440332	G	A	99440332	3	1	27	1	0	0	0	0	1	0	0	0	8089	1087	38	1	127	1	KCNS2	8	99440332	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	191909	99440332	46923690	4210	28161											
STK3	6788	broad.mit.edu	37	chr8	99468135	99468135	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgggctgtcttttcgcagTgtatctctgacgaagttctt	10	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:99468135T>C	uc003yip.2	-	11	1552	c.1411A>G	c.(1411-1413)ACT>GCT	p.T471A	STK3_uc003yio.2_Missense_Mutation_p.T499A	NM_006281	NP_006272	Q13188	STK3_HUMAN	serine/threonine kinase 3	471	SARAH.|Potential.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		CTTTTCGCAGTGTATCTCTGA	0.403													C	99468135	T	C	99468135	3	2	27	1	0	0	0	0	1	0	0	0	15294	1696	59	3	68	3	STK3	8	99468135	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	27803	99468135	46895887	4211	28162											
VPS13B	157680	broad.mit.edu	37	chr8	100050747	100050747	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcagaaccagtggtaattAccatcaatactatggaatgc	8	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:100050747A>G	uc003yiv.2	+	3	355	c.244A>G	c.(244-246)ACC>GCC	p.T82A	VPS13B_uc003yiw.2_Missense_Mutation_p.T82A|VPS13B_uc003yit.2_Missense_Mutation_p.T82A|VPS13B_uc003yiu.1_Missense_Mutation_p.T82A|VPS13B_uc003yis.2_Missense_Mutation_p.T82A|VPS13B_uc011lgy.1_5'UTR	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	82					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGTGGTAATTACCATCAATAC	0.318													G	100050747	A	G	100050747	3	3	27	1	0	0	0	0	1	0	0	0	17187	391	14	3	250	3	VPS13B	8	100050747	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	582612	100050747	46313275	4212	28163											
VPS13B	157680	broad.mit.edu	37	chr8	100155279	100155279	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggagaagtccaccaaaagcCttgttataggtcctcttgat	9	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:100155279C>A	uc003yiv.2	+	13	1840	c.1729C>A	c.(1729-1731)CTT>ATT	p.L577I	VPS13B_uc003yiw.2_Missense_Mutation_p.L577I|VPS13B_uc003yit.2_Missense_Mutation_p.L577I|VPS13B_uc003yiu.1_Missense_Mutation_p.L577I|VPS13B_uc003yix.1_Missense_Mutation_p.L48I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	577					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CACCAAAAGCCTTGTTATAGG	0.373													A	100155279	C	A	100155279	3	1	27	1	0	0	0	0	1	0	0	0	17187	681	24	5	1817	5	VPS13B	8	100155279	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	104532	100155279	46208743	4213	28164											
VPS13B	157680	broad.mit.edu	37	chr8	100729416	100729416	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caggcataattcttgggtcaTcatttctactcagtataaac	6	9	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:100729416T>A	uc003yiv.2	+	37	6658	c.6547T>A	c.(6547-6549)TCA>ACA	p.S2183T	VPS13B_uc003yiw.2_Missense_Mutation_p.S2158T	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2183					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCTTGGGTCATCATTTCTACT	0.333													A	100729416	T	A	100729416	3	1	27	1	0	0	0	0	1	0	0	0	17187	1435	50	5	6883	5	VPS13B	8	100729416	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	574137	100729416	45634606	4214	28165											
RGS22	26166	broad.mit.edu	37	chr8	101020754	101020754	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttttcctgttggagtccaAtgtcaagagtggcagaagga	12	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:101020754A>G	uc003yjb.1	-	15	2405	c.2210T>C	c.(2209-2211)ATT>ACT	p.I737T	RGS22_uc003yja.1_Missense_Mutation_p.I556T|RGS22_uc003yjc.1_Missense_Mutation_p.I725T|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	737					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTGGAGTCCAATGTCAAGAGT	0.403													G	101020754	A	G	101020754	3	3	27	1	0	0	0	0	1	0	0	0	13305	101	4	3	1636	3	RGS22	8	101020754	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	291338	101020754	45343268	4215	28166											
FBXO43	286151	broad.mit.edu	37	chr8	101153423	101153423	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtagttcttgaaaagaAccctcctggtcagacaggga	11	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:101153423A>G	uc003yjd.2	-	2	1772	c.1059T>C	c.(1057-1059)GGT>GGC	p.G353G	FBXO43_uc003yje.2_Silent_p.G319G|FBXO43_uc010mbp.1_Silent_p.G353G	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	353					meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CTTGAAAAGAACCCTCCTGGT	0.463													G	101153423	A	G	101153423	2	3	27	1	0	0	0	0	0	0	0	1	5752	30	2	3		3	FBXO43	8	101153423	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	132669	101153423	45210599	4216	28167											
SPAG1	6674	broad.mit.edu	37	chr8	101203638	101203638	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctgcgtcgtgctactAcatataaacatcaaaacaag	5	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:101203638A>G	uc003yjh.1	+	9	939	c.853A>G	c.(853-855)ACA>GCA	p.T285A	SPAG1_uc003yjg.1_Missense_Mutation_p.T285A|SPAG1_uc003yji.1_Missense_Mutation_p.T285A	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	285	TPR 3.				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)		TCGTGCTACTACATATAAACA	0.343													G	101203638	A	G	101203638	3	3	27	1	0	0	0	0	1	0	0	0	14975	391	14	3	883	3	SPAG1	8	101203638	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	50215	101203638	45160384	4217	28168											
SPAG1	6674	broad.mit.edu	37	chr8	101237493	101237493	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctgtgccactgcaagCttggcatccggcaaaagaga	11	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:101237493C>A	uc003yjh.1	+	14	1867	c.1781C>A	c.(1780-1782)GCT>GAT	p.A594D	SPAG1_uc003yji.1_Missense_Mutation_p.A594D	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	594					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)		CCACTGCAAGCTTGGCATCCG	0.517													A	101237493	C	A	101237493	3	1	27	1	0	0	0	0	1	0	0	0	14975	797	28	5	1831	5	SPAG1	8	101237493	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	33855	101237493	45126529	4218	28169											
GRHL2	79977	broad.mit.edu	37	chr8	102589676	102589676	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaagacaaaaacagagAtgaacagctcaaatactgga	9	7	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:102589676A>T	uc010mbu.2	+	7	1262	c.932A>T	c.(931-933)GAT>GTT	p.D311V		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	transcription factor CP2-like 3	311						cytoplasm|nucleus	DNA binding			ovary(2)|skin(1)	3	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			AAAAACAGAGATGAACAGCTC	0.483													T	102589676	A	T	102589676	3	4	27	1	0	0	0	0	1	0	0	0	6764	333	12	5	958	5	GRHL2	8	102589676	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1352183	102589676	43774346	4219	28170											
RRM2B	50484	broad.mit.edu	37	chr8	103236354	103236354	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggcatggtttcaattgcaTtaaataaaaattccctgtaa	7	6	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:103236354T>C	uc003ykn.2	-	5	714	c.470A>G	c.(469-471)AAT>AGT	p.N157S	RRM2B_uc003yko.2_RNA|RRM2B_uc010mbv.1_Missense_Mutation_p.N105S|RRM2B_uc010mbw.1_Intron|RRM2B_uc010mbx.1_Intron|RRM2B_uc010mby.1_Intron	NM_015713	NP_056528	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	157					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			ovary(2)	2	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			TTCAATTGCATTAAATAAAAA	0.259								Direct_reversal_of_damage|Modulation_of_nucleotide_pools					C	103236354	T	C	103236354	3	2	27	1	0	0	0	0	1	0	0	0	13683	1493	52	3	605	3	RRM2B	8	103236354	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	646678	103236354	43127668	4220	28171											
UBR5	51366	broad.mit.edu	37	chr8	103372393	103372393	+	Frame_Shift_Del	DEL	C	C	-													aggccttgacgtcctccctgCccccgagttgctgttcaact							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:103372392_103372392GC>G	uc003ykr.2	-	4	748	c.293_293GC>C	c.(292-294)gcafs	p.A98fs	UBR5_uc003yks.2_Frame_Shift_Del_p.A98fs	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	98					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CGTCCTCCCTGCCCCCGAGTT	0.478													-	103372393	C	-	103372393	7	5	27	1	0	1	0	1	0	0	0	0	16902	739	26	0	8327	0	UBR5	8	103372393	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	136039	103372393	42991629	4221	28172											
ODF1	4956	broad.mit.edu	37	chr8	103564230	103564230	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctctcagaagtttggagaGgaaagccatcagagccatag	11	8	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:103564230G>T	uc003ykt.2	+	1	383	c.275G>T	c.(274-276)AGG>ATG	p.R92M		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	92					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			ovary(2)	2	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			AGTTTGGAGAGGAAAGCCATC	0.413													T	103564230	G	T	103564230	3	4	27	1	0	0	0	0	1	0	0	0	10826	1000	35	5	277	5	ODF1	8	103564230	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	191837	103564230	42799792	4222	28173											
ATP6V1C1	528	broad.mit.edu	37	chr8	104078589	104078589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaagcaatgctacttcagCccaataagaaaactttgaag	6	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:104078589C>T	uc003ykz.3	+	12	1212	c.967C>T	c.(967-969)CCC>TCC	p.P323S	ATP6V1C1_uc010mbz.2_Missense_Mutation_p.P248S|ATP6V1C1_uc003yla.2_Missense_Mutation_p.P323S|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.P248S	NM_001695	NP_001686	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit	323					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism				0	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			GCTACTTCAGCCCAATAAGAA	0.343													T	104078589	C	T	104078589	3	4	27	1	0	0	0	0	1	0	0	0	1180	739	26	2	1009	2	ATP6V1C1	8	104078589	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	514359	104078589	42285433	4223	28174											
DCAF13	25879	broad.mit.edu	37	chr8	104452374	104452374	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttttctatagggaggtatatCatacaaagagaatgcaacat	8	5	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:104452374C>G	uc003yln.2	+	9	1694	c.1417C>G	c.(1417-1419)CAT>GAT	p.H473D	DCAF13_uc003ylm.1_Missense_Mutation_p.H206D|DCAF13_uc003ylo.2_Missense_Mutation_p.H184D	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	321					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						GGAGGTATATCATACAAAGAG	0.353													G	104452374	C	G	104452374	3	3	27	1	0	0	0	0	1	0	0	0	4266	826	29	5	1451	5	DCAF13	8	104452374	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	373785	104452374	41911648	4224	28175											
DCAF13	25879	broad.mit.edu	37	chr8	104452496	104452496	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgcttctgaaaaattgggTgtggtaagagaattcatttt	10	3	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:104452496T>C	uc003yln.2	+	9	1816	c.1539T>C	c.(1537-1539)GGT>GGC	p.G513G	DCAF13_uc003ylm.1_Silent_p.G246G|DCAF13_uc003ylo.2_Silent_p.G224G	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	361	WD 7.				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						AAAAATTGGGTGTGGTAAGAG	0.299													C	104452496	T	C	104452496	2	2	27	1	0	0	0	0	0	0	0	1	4266	1683	59	3		3	DCAF13	8	104452496	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	122	104452496	41911526	4225	28176											
RIMS2	9699	broad.mit.edu	37	chr8	104898191	104898191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcgtactgactcactacGgaaacagcaccacttagatc	9	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:104898191G>A	uc003yls.2	+	2	939	c.698G>A	c.(697-699)CGG>CAG	p.R233Q	RIMS2_uc003ylp.2_Missense_Mutation_p.R455Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R263Q|RIMS2_uc003ylq.2_Missense_Mutation_p.R263Q|RIMS2_uc003ylr.2_Missense_Mutation_p.R263Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	486					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACTCACTACGGAAACAGCAC	0.448										HNSCC(12;0.0054)			A	104898191	G	A	104898191	3	1	27	1	0	0	0	0	1	0	0	0	13368	1116	39	1	1504	1	RIMS2	8	104898191	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	445695	104898191	41465831	4226	28177											
RIMS2	9699	broad.mit.edu	37	chr8	104955055	104955055	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgagccacattggtacaaaCttcagacgcatgatgtctct	8	10	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:104955055C>A	uc003yls.2	+	12	2177	c.1936C>A	c.(1936-1938)CTT>ATT	p.L646I	RIMS2_uc003ylp.2_Missense_Mutation_p.L868I|RIMS2_uc003ylw.2_Missense_Mutation_p.L660I|RIMS2_uc003ylq.2_Missense_Mutation_p.L660I|RIMS2_uc003ylr.2_Missense_Mutation_p.L707I|RIMS2_uc003ylt.2_Missense_Mutation_p.L253I	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	930					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTGGTACAAACTTCAGACGCA	0.413										HNSCC(12;0.0054)			A	104955055	C	A	104955055	3	1	27	1	0	0	0	0	1	0	0	0	13368	565	20	5	2782	5	RIMS2	8	104955055	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	56864	104955055	41408967	4227	28178											
TM7SF4	81501	broad.mit.edu	37	chr8	105361020	105361020	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctccaagcatgcacgatgTtttattcttcttgtctttct	6	10	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:105361020T>C	uc003ylx.1	+	2	289	c.240T>C	c.(238-240)TGT>TGC	p.C80C		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	80					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATGCACGATGTTTTATTCTTC	0.507													C	105361020	T	C	105361020	2	2	27	1	0	0	0	0	0	0	0	1	15973	1731	60	3		3	TM7SF4	8	105361020	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	405965	105361020	41003002	4228	28179											
DPYS	1807	broad.mit.edu	37	chr8	105405147	105405147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgaaatagtcacaaggggCaccccgtggcaaaccatgcc	10	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:105405147C>T	uc003yly.3	-	8	1437	c.1308G>A	c.(1306-1308)GTG>GTA	p.V436V	DPYS_uc010mcf.1_Silent_p.V6V	NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	436					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCACAAGGGGCACCCCGTGGC	0.433													T	105405147	C	T	105405147	2	4	27	1	0	0	0	0	0	0	0	1	4746	697	25	2		2	DPYS	8	105405147	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	44127	105405147	40958875	4229	28180											
LRP12	29967	broad.mit.edu	37	chr8	105521172	105521172	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggtagaattaccttatAgtaatgatttcgcctgggtt	10	5	0	2	rs146591291		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:105521172A>G	uc003yma.2	-	3	362	c.267T>C	c.(265-267)ACT>ACC	p.T89T	LRP12_uc003ymb.2_Silent_p.T70T|LRP12_uc003ymc.3_Silent_p.T70T	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	89	Extracellular (Potential).|CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATTACCTTATAGTAATGATTT	0.328													G	105521172	A	G	105521172	2	3	27	1	0	0	0	0	0	0	0	1	8954	407	15	3		3	LRP12	8	105521172	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	116025	105521172	40842850	4230	28181											
LRP12	29967	broad.mit.edu	37	chr8	105521252	105521252	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaaggccagcctgggcTtgtgattatgccacttggtg	13	9	1	2	rs113326704		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:105521252T>G	uc003yma.2	-	3	282	c.187A>C	c.(187-189)AGC>CGC	p.S63R	LRP12_uc003ymb.2_Missense_Mutation_p.S44R|LRP12_uc003ymc.3_Missense_Mutation_p.S44R	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	63	Extracellular (Potential).|CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CAGCCTGGGCTTGTGATTATG	0.418													G	105521252	T	G	105521252	3	3	27	1	0	0	0	0	1	0	0	0	8954	1609	56	5	2412	5	LRP12	8	105521252	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	80	105521252	40842770	4231	28182											
RSPO2	340419	broad.mit.edu	37	chr8	109001322	109001322	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggggctcggtgtccatagTacccggatgggcaggaatgc	16	10	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:109001322T>C	uc003yms.2	-	3	903	c.245A>G	c.(244-246)TAC>TGC	p.Y82C	RSPO2_uc003ymq.2_Missense_Mutation_p.Y15C|RSPO2_uc003ymr.2_Intron	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	R-spondin family, member 2 precursor	82					Wnt receptor signaling pathway	extracellular region	heparin binding			skin(3)|ovary(2)|pancreas(1)|lung(1)	7			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			GTGTCCATAGTACCCGGATGG	0.488													C	109001322	T	C	109001322	3	2	27	1	0	0	0	0	1	0	0	0	13710	1638	57	3	502	3	RSPO2	8	109001322	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3480070	109001322	37362700	4232	28183											
TMEM74	157753	broad.mit.edu	37	chr8	109796640	109796640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccccgcaatcacacagcGgtccaggtgagcccccagcc	11	18	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:109796640G>A	uc003ymy.1	-	2	793	c.688C>T	c.(688-690)CGC>TGC	p.R230C	TMEM74_uc003ymx.2_Intron	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	transmembrane protein 74	230					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			ATCACACAGCGGTCCAGGTGA	0.622													A	109796640	G	A	109796640	3	1	27	1	0	0	0	0	1	0	0	0	16199	1116	39	1	233	1	TMEM74	8	109796640	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	795318	109796640	36567382	4233	28184											
TMEM74	157753	broad.mit.edu	37	chr8	109796927	109796927	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccaagctccccagggtgaTtatgcccttttgctgatggc	11	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:109796927T>C	uc003ymy.1	-	2	506	c.401A>G	c.(400-402)AAT>AGT	p.N134S	TMEM74_uc003ymx.2_Intron	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	transmembrane protein 74	134					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			CCCAGGGTGATTATGCCCTTT	0.478													C	109796927	T	C	109796927	3	2	27	1	0	0	0	0	1	0	0	0	16199	1493	52	3	520	3	TMEM74	8	109796927	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	287	109796927	36567095	4234	28185											
ENY2	56943	broad.mit.edu	37	chr8	110351554	110351554	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtttcaacagcctcaAagagttgctgagagctaaat	8	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:110351554A>G	uc003ynd.2	+	3	151	c.89A>G	c.(88-90)AAA>AGA	p.K30R	ENY2_uc003ync.2_Missense_Mutation_p.K25R	NM_020189	NP_064574	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog	30					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity				0	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			AACAGCCTCAAAGAGTTGCTG	0.353													G	110351554	A	G	110351554	3	3	27	1	0	0	0	0	1	0	0	0	5146	14	1	3	99	3	ENY2	8	110351554	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	554627	110351554	36012468	4235	28186											
PKHD1L1	93035	broad.mit.edu	37	chr8	110471910	110471910	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actaagtaacccactaaattAcacacacttaggaattacgg	5	10	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:110471910A>G	uc003yne.2	+	47	7195	c.7091A>G	c.(7090-7092)TAC>TGC	p.Y2364C		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2364	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCACTAAATTACACACACTTA	0.363										HNSCC(38;0.096)			G	110471910	A	G	110471910	3	3	27	1	0	0	0	0	1	0	0	0	11972	391	14	3	7277	3	PKHD1L1	8	110471910	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	120356	110471910	35892112	4236	28187											
PKHD1L1	93035	broad.mit.edu	37	chr8	110509267	110509267	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaaggatttaccatttggAcatgctgggattatggaatt	10	5	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:110509267A>G	uc003yne.2	+	64	10551	c.10447A>G	c.(10447-10449)ACA>GCA	p.T3483A		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3483	PbH1 8.|Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACCATTTGGACATGCTGGGA	0.338										HNSCC(38;0.096)			G	110509267	A	G	110509267	3	3	27	1	0	0	0	0	1	0	0	0	11972	275	10	3	10701	3	PKHD1L1	8	110509267	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	37357	110509267	35854755	4237	28188											
PKHD1L1	93035	broad.mit.edu	37	chr8	110535613	110535613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaccttactccccttagaaCaggtgggtgcactattttgg	10	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:110535613C>T	uc003yne.2	+	76	12586	c.12482C>T	c.(12481-12483)ACA>ATA	p.T4161I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	4161	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCCCTTAGAACAGGTGGGTGC	0.388										HNSCC(38;0.096)			T	110535613	C	T	110535613	3	4	27	1	0	0	0	0	1	0	0	0	11972	478	17	4	12784	4	PKHD1L1	8	110535613	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	26346	110535613	35828409	4238	28189											
SYBU	55638	broad.mit.edu	37	chr8	110587443	110587443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttctgcatccacattggCgtagggggtctccacgggag	13	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:110587443C>T	uc003ynj.3	-	7	1847	c.1684G>A	c.(1684-1686)GCC>ACC	p.A562T	SYBU_uc003yni.3_Missense_Mutation_p.A559T|SYBU_uc003ynk.3_Missense_Mutation_p.A443T|SYBU_uc010mco.2_Missense_Mutation_p.A561T|SYBU_uc003ynl.3_Missense_Mutation_p.A561T|SYBU_uc010mcp.2_Missense_Mutation_p.A562T|SYBU_uc010mcq.2_Missense_Mutation_p.A562T|SYBU_uc003yno.3_Missense_Mutation_p.A443T|SYBU_uc010mcr.2_Missense_Mutation_p.A562T|SYBU_uc003ynm.3_Missense_Mutation_p.A561T|SYBU_uc003ynn.3_Missense_Mutation_p.A561T|SYBU_uc010mcs.2_Missense_Mutation_p.A443T|SYBU_uc010mct.2_Missense_Mutation_p.A562T|SYBU_uc010mcu.2_Missense_Mutation_p.A561T|SYBU_uc003ynp.3_Missense_Mutation_p.A494T|SYBU_uc010mcv.2_Missense_Mutation_p.A562T|SYBU_uc003ynh.3_Missense_Mutation_p.A356T|SYBU_uc011lhw.1_Missense_Mutation_p.A432T	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	562						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						TCCACATTGGCGTAGGGGGTC	0.527													T	110587443	C	T	110587443	3	4	27	1	0	0	0	0	1	0	0	0	15424	768	27	1	311	1	SYBU	8	110587443	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	51830	110587443	35776579	4239	28190											
SYBU	55638	broad.mit.edu	37	chr8	110588041	110588041	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttcttgttttggatgttTatgtccacaaaatatttctg	7	6	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:110588041T>C	uc003ynj.3	-	7	1249	c.1086A>G	c.(1084-1086)ATA>ATG	p.I362M	SYBU_uc003yni.3_Missense_Mutation_p.I359M|SYBU_uc003ynk.3_Missense_Mutation_p.I243M|SYBU_uc010mco.2_Missense_Mutation_p.I361M|SYBU_uc003ynl.3_Missense_Mutation_p.I361M|SYBU_uc010mcp.2_Missense_Mutation_p.I362M|SYBU_uc010mcq.2_Missense_Mutation_p.I362M|SYBU_uc003yno.3_Missense_Mutation_p.I243M|SYBU_uc010mcr.2_Missense_Mutation_p.I362M|SYBU_uc003ynm.3_Missense_Mutation_p.I361M|SYBU_uc003ynn.3_Missense_Mutation_p.I361M|SYBU_uc010mcs.2_Missense_Mutation_p.I243M|SYBU_uc010mct.2_Missense_Mutation_p.I362M|SYBU_uc010mcu.2_Missense_Mutation_p.I361M|SYBU_uc003ynp.3_Missense_Mutation_p.I294M|SYBU_uc010mcv.2_Missense_Mutation_p.I362M|SYBU_uc003ynh.3_Missense_Mutation_p.I156M|SYBU_uc011lhw.1_Missense_Mutation_p.I232M	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	362	Sufficient for interaction with STX1A.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						TTTGGATGTTTATGTCCACAA	0.448													C	110588041	T	C	110588041	3	2	27	1	0	0	0	0	1	0	0	0	15424	1744	61	3	909	3	SYBU	8	110588041	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	598	110588041	35775981	4240	28191											
SYBU	55638	broad.mit.edu	37	chr8	110588192	110588192	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacactcctcctcaatccagTcctctcgcatgcgggccagc	8	18	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:110588192T>A	uc003ynj.3	-	7	1098	c.935A>T	c.(934-936)GAC>GTC	p.D312V	SYBU_uc003yni.3_Missense_Mutation_p.D309V|SYBU_uc003ynk.3_Missense_Mutation_p.D193V|SYBU_uc010mco.2_Missense_Mutation_p.D311V|SYBU_uc003ynl.3_Missense_Mutation_p.D311V|SYBU_uc010mcp.2_Missense_Mutation_p.D312V|SYBU_uc010mcq.2_Missense_Mutation_p.D312V|SYBU_uc003yno.3_Missense_Mutation_p.D193V|SYBU_uc010mcr.2_Missense_Mutation_p.D312V|SYBU_uc003ynm.3_Missense_Mutation_p.D311V|SYBU_uc003ynn.3_Missense_Mutation_p.D311V|SYBU_uc010mcs.2_Missense_Mutation_p.D193V|SYBU_uc010mct.2_Missense_Mutation_p.D312V|SYBU_uc010mcu.2_Missense_Mutation_p.D311V|SYBU_uc003ynp.3_Missense_Mutation_p.D244V|SYBU_uc010mcv.2_Missense_Mutation_p.D312V|SYBU_uc003ynh.3_Missense_Mutation_p.D106V|SYBU_uc011lhw.1_Missense_Mutation_p.D182V	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	312	Sufficient for interaction with STX1A.|Potential.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						CTCAATCCAGTCCTCTCGCAT	0.463													A	110588192	T	A	110588192	3	1	27	1	0	0	0	0	1	0	0	0	15424	1667	58	5	1060	5	SYBU	8	110588192	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	151	110588192	35775830	4241	28192											
KCNV1	27012	broad.mit.edu	37	chr8	110980549	110980549	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcgatcgttaataatagcaAtaggcaaggccaagacaaga	10	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:110980549A>T	uc003ynr.3	-	3	1613	c.1271T>A	c.(1270-1272)ATT>AAT	p.I424N	KCNV1_uc010mcw.2_Missense_Mutation_p.I424N	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	424	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AATAATAGCAATAGGCAAGGC	0.448													T	110980549	A	T	110980549	3	4	27	1	0	0	0	0	1	0	0	0	8094	101	4	5	235	5	KCNV1	8	110980549	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	392357	110980549	35383473	4242	28193											
KCNV1	27012	broad.mit.edu	37	chr8	110984530	110984530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatgcgcagagccctgagCagcctcaacacctggacaat	10	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:110984530C>T	uc003ynr.3	-	2	1290	c.948G>A	c.(946-948)CTG>CTA	p.L316L	KCNV1_uc010mcw.2_Silent_p.L316L	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	316	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GAGCCCTGAGCAGCCTCAACA	0.507													T	110984530	C	T	110984530	2	4	27	1	0	0	0	0	0	0	0	1	8094	697	25	2		2	KCNV1	8	110984530	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3981	110984530	35379492	4243	28194											
CSMD3	114788	broad.mit.edu	37	chr8	113241000	113241000	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttacctttgtttataaagaTaaaatccaaatcctgcaaat	3	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:113241000T>G	uc003ynu.2	-	70	11108	c.10949A>C	c.(10948-10950)TAT>TCT	p.Y3650S	CSMD3_uc003yns.2_Missense_Mutation_p.Y2852S|CSMD3_uc003ynt.2_Missense_Mutation_p.Y3610S|CSMD3_uc011lhx.1_Missense_Mutation_p.Y3481S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3650	Helical; (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TTTATAAAGATAAAATCCAAA	0.299										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113241000	T	G	113241000	3	3	27	1	0	0	0	0	1	0	0	0	3946	1406	49	5	182	5	CSMD3	8	113241000	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2256470	113241000	33123022	4244	28195											
CSMD3	114788	broad.mit.edu	37	chr8	113256732	113256732	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtataaatcagtgtataCccatgagatggaaggtccat	10	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:113256732C>T	uc003ynu.2	-	65	10452	c.10293G>A	c.(10291-10293)GGG>GGA	p.G3431G	CSMD3_uc003yns.2_Silent_p.G2633G|CSMD3_uc003ynt.2_Silent_p.G3391G|CSMD3_uc011lhx.1_Silent_p.G3262G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3431	Extracellular (Potential).|Sushi 28.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TCAGTGTATACCCATGAGATG	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113256732	C	T	113256732	2	4	27	1	0	0	0	0	0	0	0	1	3946	494	18	4		4	CSMD3	8	113256732	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	15732	113256732	33107290	4245	28196											
CSMD3	114788	broad.mit.edu	37	chr8	113308208	113308208	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caatgacttgaccattcacaAtcagttctggaattccacaa	5	11	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:113308208A>T	uc003ynu.2	-	54	8627	c.8468T>A	c.(8467-8469)ATT>AAT	p.I2823N	CSMD3_uc003yns.2_Missense_Mutation_p.I2025N|CSMD3_uc003ynt.2_Missense_Mutation_p.I2783N|CSMD3_uc011lhx.1_Missense_Mutation_p.I2654N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2823	Extracellular (Potential).|Sushi 18.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ACCATTCACAATCAGTTCTGG	0.313										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113308208	A	T	113308208	3	4	27	1	0	0	0	0	1	0	0	0	3946	101	4	5	2727	5	CSMD3	8	113308208	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	51476	113308208	33055814	4246	28197											
CSMD3	114788	broad.mit.edu	37	chr8	113353786	113353786	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtttcatgggtggtgctgAataaggaagatggtatttga	15	2	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:113353786A>G	uc003ynu.2	-	42	6731	c.6572T>C	c.(6571-6573)TTC>TCC	p.F2191S	CSMD3_uc003yns.2_Missense_Mutation_p.F1393S|CSMD3_uc003ynt.2_Missense_Mutation_p.F2151S|CSMD3_uc011lhx.1_Missense_Mutation_p.F2087S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2191	Extracellular (Potential).|CUB 12.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GGTGGTGCTGAATAAGGAAGA	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113353786	A	G	113353786	3	3	27	1	0	0	0	0	1	0	0	0	3946	246	9	3	4671	3	CSMD3	8	113353786	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	45578	113353786	33010236	4247	28198											
TRPS1	7227	broad.mit.edu	37	chr8	116426319	116426319	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcccctctggatatgtgTtgtgaagtcatatttgtccg	11	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:116426319T>C	uc003ynz.2	-	6	4237	c.3778A>G	c.(3778-3780)ACA>GCA	p.T1260A	TRPS1_uc011lhy.1_Missense_Mutation_p.T1264A|TRPS1_uc003yny.2_Missense_Mutation_p.T1273A|TRPS1_uc010mcy.2_Missense_Mutation_p.T1260A	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1260	C2H2-type 7.|Transcriptional repressor domain (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGGATATGTGTTGTGAAGTCA	0.408									Langer-Giedion_syndrome				C	116426319	T	C	116426319	3	2	27	1	0	0	0	0	1	0	0	0	16590	1725	60	3	71	3	TRPS1	8	116426319	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3072533	116426319	29937703	4248	28199											
TRPS1	7227	broad.mit.edu	37	chr8	116599390	116599390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgccagatgggcggcctcCacattgggactatcccttag	12	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:116599390C>T	uc003ynz.2	-	4	2958	c.2499G>A	c.(2497-2499)GTG>GTA	p.V833V	TRPS1_uc011lhy.1_Silent_p.V837V|TRPS1_uc003yny.2_Silent_p.V846V|TRPS1_uc010mcy.2_Silent_p.V833V	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	833					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGGCGGCCTCCACATTGGGAC	0.617									Langer-Giedion_syndrome				T	116599390	C	T	116599390	2	4	27	1	0	0	0	0	0	0	0	1	16590	581	21	4		4	TRPS1	8	116599390	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	173071	116599390	29764632	4249	28200											
TRPS1	7227	broad.mit.edu	37	chr8	116631923	116631923	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggagacttcaagggctcacaGactcccccagcagctggaga	12	13	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:116631923G>A	uc003ynz.2	-	2	822	c.363C>T	c.(361-363)GTC>GTT	p.V121V	TRPS1_uc011lhy.1_Silent_p.V125V|TRPS1_uc003yny.2_Silent_p.V134V|TRPS1_uc010mcy.2_Silent_p.V121V	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	121					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGGGCTCACAGACTCCCCCAG	0.527									Langer-Giedion_syndrome				A	116631923	G	A	116631923	2	1	27	1	0	0	0	0	0	0	0	1	16590	929	33	4		4	TRPS1	8	116631923	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	32533	116631923	29732099	4250	28201											
EIF3H	8667	broad.mit.edu	37	chr8	117658772	117658772	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtttgaagagtttggacaggTcctcctcagggagcgggggt	17	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:117658772T>A	uc003yoa.2	-	7	925	c.899A>T	c.(898-900)GAC>GTC	p.D300V	EIF3H_uc003yob.2_Missense_Mutation_p.D314V	NM_003756	NP_003747	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3,	300					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)					TTTGGACAGGTCCTCCTCAGG	0.537													A	117658772	T	A	117658772	3	1	27	1	0	0	0	0	1	0	0	0	5018	1667	58	5	167	5	EIF3H	8	117658772	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1026849	117658772	28705250	4251	28202											
C8orf85	441376	broad.mit.edu	37	chr8	117950578	117950578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttggttcccacctcgtccCgcgtgcgacttcttcgggga	11	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:117950578C>T	uc003yof.2	+	1	115	c.96C>T	c.(94-96)CCC>CCT	p.P32P		NM_001025357	NP_001020528	Q4LEZ3	AARD_HUMAN	alanine and arginine-rich domain-containing	32											0						CACCTCGTCCCGCGTGCGACT	0.697													T	117950578	C	T	117950578	2	4	27	1	0	0	0	0	0	0	0	1	2441	639	23	1		1	C8orf85	8	117950578	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	291806	117950578	28413444	4252	28203											
COLEC10	10584	broad.mit.edu	37	chr8	120079598	120079598	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttgcaaattcagagtctGggtctggatattgatagccg	11	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:120079598G>A	uc003yoo.2	+	1	175	c.78G>A	c.(76-78)CTG>CTA	p.L26L		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 precursor	26						collagen|cytoplasm	mannose binding			ovary(2)|skin(1)	3	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			TTCAGAGTCTGGGTCTGGATA	0.438													A	120079598	G	A	120079598	2	1	27	1	0	0	0	0	0	0	0	1	3710	1335	47	4		4	COLEC10	8	120079598	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2129020	120079598	26284424	4253	28204											
NOV	4856	broad.mit.edu	37	chr8	120431371	120431371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatttatacatcccatagCttacaggccagaagccaccc	5	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:120431371C>T	uc003yoq.2	+	4	784	c.563C>T	c.(562-564)GCT>GTT	p.A188V		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	188					regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATCCCATAGCTTACAGGCCA	0.453													T	120431371	C	T	120431371	3	4	27	1	0	0	0	0	1	0	0	0	10553	811	28	2	577	2	NOV	8	120431371	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	351773	120431371	25932651	4254	28205											
NOV	4856	broad.mit.edu	37	chr8	120431495	120431495	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttctccacccgggtcacCaataggaaccgtcaatgtga	11	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:120431495C>T	uc003yoq.2	+	4	908	c.687C>T	c.(685-687)ACC>ACT	p.T229T		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	229	TSP type-1.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCGGGTCACCAATAGGAACC	0.532													T	120431495	C	T	120431495	2	4	27	1	0	0	0	0	0	0	0	1	10553	581	21	4		4	NOV	8	120431495	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	124	120431495	25932527	4255	28206											
NOV	4856	broad.mit.edu	37	chr8	120435193	120435193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggggtctgcagtgatggcCgctgctgcactccccacaat	13	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:120435193C>T	uc003yoq.2	+	5	1116	c.895C>T	c.(895-897)CGC>TGC	p.R299C		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	299	CTCK.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGTGATGGCCGCTGCTGCAC	0.557													T	120435193	C	T	120435193	3	4	27	1	0	0	0	0	1	0	0	0	10553	652	23	1	913	1	NOV	8	120435193	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3698	120435193	25928829	4256	28207											
TAF2	6873	broad.mit.edu	37	chr8	120809250	120809250	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagacattctagatatgaaAcaaccaaaaaactgctgggc	7	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:120809250A>G	uc003you.2	-	8	1341	c.1071T>C	c.(1069-1071)TGT>TGC	p.C357C		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	357					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TAGATATGAAACAACCAAAAA	0.378													G	120809250	A	G	120809250	2	3	27	1	0	0	0	0	0	0	0	1	15521	41	2	3		3	TAF2	8	120809250	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	374057	120809250	25554772	4257	28208											
DSCC1	79075	broad.mit.edu	37	chr8	120847196	120847196	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcgaagaatgagaataTttagtgagtaatgcacctat	9	5	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:120847196T>A	uc003yov.2	-	9	1254	c.1119A>T	c.(1117-1119)AAA>AAT	p.K373N	TAF2_uc003you.2_5'Flank	NM_024094	NP_076999	Q9BVC3	DCC1_HUMAN	defective in sister chromatid cohesion 1	373					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			pancreas(1)	1	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATGAGAATATTTAGTGAGTA	0.318													A	120847196	T	A	120847196	3	1	27	1	0	0	0	0	1	0	0	0	4770	1490	52	5	66	5	DSCC1	8	120847196	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	37946	120847196	25516826	4258	28209											
COL14A1	7373	broad.mit.edu	37	chr8	121357685	121357685	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catccatccggactgtccaaGggcctcctggggagcctggg	14	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:121357685G>T	uc003yox.2	+	45	5225	c.4960G>T	c.(4960-4962)GGG>TGG	p.G1654W	COL14A1_uc003yoz.2_Missense_Mutation_p.G619W	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1654	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GACTGTCCAAGGGCCTCCTGG	0.612													T	121357685	G	T	121357685	3	4	27	1	0	0	0	0	1	0	0	0	3671	1000	35	5	5134	5	COL14A1	8	121357685	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	510489	121357685	25006337	4259	28210											
MTBP	27085	broad.mit.edu	37	chr8	121519098	121519098	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaacctttaccgattcaaaAggggtaggttataaacttat	7	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:121519098A>G	uc003ypc.1	+	16	1925	c.1880A>G	c.(1879-1881)AAG>AGG	p.K627R		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53	627	Interaction with MDM2 (By similarity).				cell cycle arrest					skin(2)|ovary(1)	3	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CCGATTCAAAAGGGGTAGGTT	0.323													G	121519098	A	G	121519098	3	3	27	1	0	0	0	0	1	0	0	0	9912	72	3	3	1942	3	MTBP	8	121519098	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	161413	121519098	24844924	4260	28211											
MTBP	27085	broad.mit.edu	37	chr8	121528287	121528287	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagttttccagtacctactgTgttgagccctcttccatctc	6	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:121528287T>C	uc003ypc.1	+	18	2147	c.2102T>C	c.(2101-2103)GTG>GCG	p.V701A		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53	701	Interaction with MDM2 (By similarity).				cell cycle arrest					skin(2)|ovary(1)	3	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GTACCTACTGTGTTGAGCCCT	0.433													C	121528287	T	C	121528287	3	2	27	1	0	0	0	0	1	0	0	0	9912	1696	59	3	2172	3	MTBP	8	121528287	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9189	121528287	24835735	4261	28212											
SNTB1	6641	broad.mit.edu	37	chr8	121587442	121587442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaccagggctggtttccaCtgtttcttgctctcccctgg	9	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:121587442C>T	uc010mdg.2	-	4	1246	c.1020G>A	c.(1018-1020)CAG>CAA	p.Q340Q	SNTB1_uc003ype.2_Silent_p.Q340Q	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	340	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			skin(5)	5	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGGTTTCCACTGTTTCTTGC	0.488													T	121587442	C	T	121587442	2	4	27	1	0	0	0	0	0	0	0	1	14872	564	20	4		4	SNTB1	8	121587442	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	59155	121587442	24776580	4262	28213											
HAS2	3037	broad.mit.edu	37	chr8	122641366	122641366	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggggtttctagggattttTtcatttttcggtgctccaaa	11	6	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:122641366T>C	uc003yph.2	-	2	753	c.215A>G	c.(214-216)AAA>AGA	p.K72R		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	72	Cytoplasmic (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TAGGGATTTTTTCATTTTTCG	0.403													C	122641366	T	C	122641366	3	2	27	1	0	0	0	0	1	0	0	0	6962	1841	64	3	1455	3	HAS2	8	122641366	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1053924	122641366	23722656	4263	28214											
WDR67	93594	broad.mit.edu	37	chr8	124153051	124153051	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaatgcgagcagatgcAgatgcctatagacgaaaagt	11	6	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:124153051A>G	uc003ypp.1	+	18	2640	c.2550A>G	c.(2548-2550)GCA>GCG	p.A850A	WDR67_uc011lig.1_Silent_p.A819A|WDR67_uc011lih.1_Silent_p.A740A|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Silent_p.A484A|WDR67_uc003ypt.1_Silent_p.A307A|WDR67_uc003ypu.1_Silent_p.A307A	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	850	Potential.					centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GAGCAGATGCAGATGCCTATA	0.338													G	124153051	A	G	124153051	2	3	27	1	0	0	0	0	0	0	0	1	17315	175	7	3		3	WDR67	8	124153051	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1511685	124153051	22210971	4264	28215											
FBXO32	114907	broad.mit.edu	37	chr8	124544137	124544137	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttaggcacttgagacttaCccggaccacgtagttaaatc	8	11	0	1	rs111742108		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:124544137C>A	uc003yqr.2	-	4	564	c.372_splice	c.e4+1	p.R124_splice	FBXO32_uc003yqq.2_Intron|FBXO32_uc010mdk.2_Splice_Site_p.R124_splice	NM_058229	NP_478136	Q969P5	FBX32_HUMAN	F-box only protein 32 isoform 1											skin(3)|breast(2)|lung(1)	6	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTGAGACTTACCCGGACCACG	0.453													A	124544137	C	A	124544137	5	1	27	1	0	0	0	0	0	0	1	0	5742	521	18	5	718	5	FBXO32	8	124544137	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	391086	124544137	21819885	4265	28216											
KLHL38	340359	broad.mit.edu	37	chr8	124664667	124664667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcaggtcggccgatgcgGccacctctgggaaggacgtc	14	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:124664667G>A	uc003yqs.1	-	1	524	c.500C>T	c.(499-501)GCC>GTC	p.A167V		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	kelch-like 38	167	BACK.										0						GGCCGATGCGGCCACCTCTGG	0.567													A	124664667	G	A	124664667	3	1	27	1	0	0	0	0	1	0	0	0	8390	1203	42	2	1257	2	KLHL38	8	124664667	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	120530	124664667	21699355	4266	28217											
FAM91A1	157769	broad.mit.edu	37	chr8	124787521	124787521	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggataacaccattttcatatTatactgggattatggaggtg	10	5	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:124787521T>C	uc003yqv.2	+	3	353	c.292T>C	c.(292-294)TAT>CAT	p.Y98H	FAM91A1_uc011lik.1_Missense_Mutation_p.Y98H|FAM91A1_uc011lil.1_5'UTR	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	98										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			ATTTTCATATTATACTGGGAT	0.448													C	124787521	T	C	124787521	3	2	27	1	0	0	0	0	1	0	0	0	5651	1754	61	3	302	3	FAM91A1	8	124787521	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	122854	124787521	21576501	4267	28218											
FAM91A1	157769	broad.mit.edu	37	chr8	124799566	124799566	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaagcgcatcgcattcctgTttgactccactcttactgcc	7	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:124799566T>C	uc003yqv.2	+	13	1205	c.1144T>C	c.(1144-1146)TTT>CTT	p.F382L	FAM91A1_uc011lik.1_Missense_Mutation_p.F382L|FAM91A1_uc011lil.1_Missense_Mutation_p.F140L	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	382										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CGCATTCCTGTTTGACTCCAC	0.383													C	124799566	T	C	124799566	3	2	27	1	0	0	0	0	1	0	0	0	5651	1725	60	3	1194	3	FAM91A1	8	124799566	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	12045	124799566	21564456	4268	28219											
FER1L6	654463	broad.mit.edu	37	chr8	124992848	124992848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcttggtagaaattgctGtggaaatcctctcaggacgg	12	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:124992848G>A	uc003yqw.2	+	11	1413	c.1207G>A	c.(1207-1209)GTG>ATG	p.V403M		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	403	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGAAATTGCTGTGGAAATCCT	0.493											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	124992848	G	A	124992848	3	1	27	1	0	0	0	0	1	0	0	0	5815	1377	48	4	1245	4	FER1L6	8	124992848	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	193282	124992848	21371174	4269	28220											
FER1L6	654463	broad.mit.edu	37	chr8	124998350	124998351	+	Frame_Shift_Ins	INS	-	-	T													atttttactctttggagcatINStttttgaagctaccatgatt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:124998349_124998350A>AT	uc003yqw.3	+	11	1658_1659	c.1452_1453A>AT	c.(1450-1455)gcatttfs	p.A484fs	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	484						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCTTTGGAGCATTTTTTGAAGC	0.371													T	124998351	-	T	124998350	7	5	27	1	0	1	1	0	0	0	0	0	5815	1493	52	0	1495	0	FER1L6	8	124998350	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	5502	124998350	21365672	4270	28221											
RNF139	11236	broad.mit.edu	37	chr8	125498225	125498225	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctatggtgcctacaacacgtCagcttttggaattgagctgc	10	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:125498225C>T	uc003yrc.2	+	2	678	c.335C>T	c.(334-336)TCA>TTA	p.S112L		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	112					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TACAACACGTCAGCTTTTGGA	0.433									Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3				T	125498225	C	T	125498225	3	4	27	1	0	0	0	0	1	0	0	0	13442	838	29	4	341	4	RNF139	8	125498225	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	499875	125498225	20865797	4271	28222											
MTSS1	9788	broad.mit.edu	37	chr8	125565432	125565432	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcttcactttctggaAttgcctgtctgtgctcctca	7	13	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:125565432A>T	uc003yrk.2	-	14	2603	c.2069T>A	c.(2068-2070)ATT>AAT	p.I690N	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.I339N|MTSS1_uc011lin.1_Missense_Mutation_p.I464N|MTSS1_uc011lio.1_Missense_Mutation_p.I580N|MTSS1_uc003yri.2_Missense_Mutation_p.I408N|MTSS1_uc003yrj.2_Missense_Mutation_p.I665N|MTSS1_uc003yrl.2_Missense_Mutation_p.I694N	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	690	Pro-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ACTTTCTGGAATTGCCTGTCT	0.592													T	125565432	A	T	125565432	3	4	27	1	0	0	0	0	1	0	0	0	9962	101	4	5	202	5	MTSS1	8	125565432	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	67207	125565432	20798590	4272	28223											
SQLE	6713	broad.mit.edu	37	chr8	126021568	126021568	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaatacatggttgaaaaaaTttacccacaaatacctggta	6	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:126021568T>A	uc011liq.1	+	6	2017	c.1091T>A	c.(1090-1092)ATT>AAT	p.I364N		NM_003129	NP_003120	Q14534	ERG1_HUMAN	squalene epoxidase	364					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			ovary(1)|breast(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	GTTGAAAAAATTTACCCACAA	0.383													A	126021568	T	A	126021568	3	1	27	1	0	0	0	0	1	0	0	0	15127	1493	52	5	1012	5	SQLE	8	126021568	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	456136	126021568	20342454	4273	28224											
KIAA0196	9897	broad.mit.edu	37	chr8	126088714	126088714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtttgccagggctgtgctgCgatgctccggcaaaggatac	15	10	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:126088714C>T	uc003yrt.2	-	7	1069	c.740G>A	c.(739-741)CGC>CAC	p.R247H	KIAA0196_uc011lir.1_Missense_Mutation_p.R99H	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	247					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GGCTGTGCTGCGATGCTCCGG	0.493													T	126088714	C	T	126088714	3	4	27	1	0	0	0	0	1	0	0	0	8161	768	27	1	2831	1	KIAA0196	8	126088714	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	67146	126088714	20275308	4274	28225											
FAM84B	157638	broad.mit.edu	37	chr8	127569528	127569528	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcgtcattggagaaaatgTaggagaccccaatgcggggc	13	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:127569528T>C	uc003yrz.1	-	2	391	c.107A>G	c.(106-108)TAC>TGC	p.Y36C		NM_174911	NP_777571	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	36						cytoplasm|plasma membrane	protein binding				0	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			GGAGAAAATGTAGGAGACCCC	0.672													C	127569528	T	C	127569528	3	2	27	1	0	0	0	0	1	0	0	0	5642	1638	57	3	829	3	FAM84B	8	127569528	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1480814	127569528	18794494	4275	28226											
MYC	4609	broad.mit.edu	37	chr8	128750987	128750987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcgcgcaaagacagcgGcagcccgaaccccgcccgcg	14	18	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:128750987G>A	uc003ysh.1	+	3	992	c.479G>A	c.(478-480)GGC>GAC	p.G160D	MYC_uc003ysi.2_Missense_Mutation_p.G175D	NM_002467	NP_002458	P01106	MYC_HUMAN	myc proto-oncogene protein	160					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AAAGACAGCGGCAGCCCGAAC	0.657		3	A|T	IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@	Burkitt lymphoma| amplified in other cancers|B-CLL						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	128750987	G	A	128750987	3	1	27	1	0	0	0	0	1	0	0	0	10016	1203	42	2	530	2	MYC	8	128750987	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1181459	128750987	17613035	4276	28227											
GSDMC	56169	broad.mit.edu	37	chr8	130789814	130789814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccaaatttttgctaatgCgttccaacatggagggcatg	10	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:130789814C>T	uc003ysr.2	-	2	902	c.20G>A	c.(19-21)CGC>CAC	p.R7H		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	melanoma-derived leucine zipper, extra-nuclear	7						mitochondrion				ovary(2)|skin(1)	3						TTTGCTAATGCGTTCCAACAT	0.403													T	130789814	C	T	130789814	3	4	27	1	0	0	0	0	1	0	0	0	6818	768	27	1	1558	1	GSDMC	8	130789814	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2038827	130789814	15574208	4277	28228											
FAM49B	51571	broad.mit.edu	37	chr8	130866573	130866573	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatagctgaaatcattctgtAtggcaggatttgtcatctga	9	6	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:130866573A>G	uc003yss.2	-	10	1004	c.455T>C	c.(454-456)ATA>ACA	p.I152T	FAM49B_uc003yst.2_Missense_Mutation_p.I152T|FAM49B_uc003ysu.2_Missense_Mutation_p.I152T|FAM49B_uc003ysv.2_Missense_Mutation_p.I6T|FAM49B_uc003ysw.2_Missense_Mutation_p.I152T|FAM49B_uc003ysx.2_Missense_Mutation_p.I152T|FAM49B_uc003ysy.1_Missense_Mutation_p.I152T	NM_016623	NP_057707	Q9NUQ9	FA49B_HUMAN	hypothetical protein LOC51571	152											0	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			ATCATTCTGTATGGCAGGATT	0.303													G	130866573	A	G	130866573	3	3	27	1	0	0	0	0	1	0	0	0	5576	449	16	3	543	3	FAM49B	8	130866573	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	76759	130866573	15497449	4278	28229											
ASAP1	50807	broad.mit.edu	37	chr8	131072887	131072887	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtaggcgtgaggtcgttggAgtcttcagatgcttgctttt	14	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:131072887A>T	uc003yta.1	-	27	3158	c.3130T>A	c.(3130-3132)TCC>ACC	p.S1044T	ASAP1_uc003ysz.1_Missense_Mutation_p.S855T|ASAP1_uc011liw.1_Missense_Mutation_p.S1037T	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	1044					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						AGGTCGTTGGAGTCTTCAGAT	0.532													T	131072887	A	T	131072887	3	4	27	1	0	0	0	0	1	0	0	0	1010	304	11	5	271	5	ASAP1	8	131072887	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	206314	131072887	15291135	4279	28230											
ASAP1	50807	broad.mit.edu	37	chr8	131172154	131172154	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttcttttcactgccataTtccttattgccctggagctg	6	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:131172154T>C	uc003yta.1	-	11	994	c.966A>G	c.(964-966)GAA>GAG	p.E322E	ASAP1_uc003ysz.1_Silent_p.E133E|ASAP1_uc011liw.1_Silent_p.E315E	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	322					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						CACTGCCATATTCCTTATTGC	0.433													C	131172154	T	C	131172154	2	2	27	1	0	0	0	0	0	0	0	1	1010	1490	52	3		3	ASAP1	8	131172154	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	99267	131172154	15191868	4280	28231											
ADCY8	114	broad.mit.edu	37	chr8	131896899	131896899	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccactccgcaagtcgatggTatgttctattctcttgttaa	8	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:131896899T>A	uc003ytd.3	-	8	2276	c.2020A>T	c.(2020-2022)ACC>TCC	p.T674S	ADCY8_uc010mds.2_Missense_Mutation_p.T674S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	674	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGTCGATGGTATGTTCTATT	0.443										HNSCC(32;0.087)			A	131896899	T	A	131896899	3	1	27	1	0	0	0	0	1	0	0	0	300	1638	57	5	1779	5	ADCY8	8	131896899	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	724745	131896899	14467123	4281	28232											
ADCY8	114	broad.mit.edu	37	chr8	131916273	131916273	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacagtccagcgtggctttGgaaatgtgaatcctcctgtg	12	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:131916273G>A	uc003ytd.3	-	7	1912	c.1656C>T	c.(1654-1656)TCC>TCT	p.S552S	ADCY8_uc010mds.2_Silent_p.S552S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	552	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCGTGGCTTTGGAAATGTGAA	0.438										HNSCC(32;0.087)			A	131916273	G	A	131916273	2	1	27	1	0	0	0	0	0	0	0	1	300	1335	47	4		4	ADCY8	8	131916273	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	19374	131916273	14447749	4282	28233											
OC90	729330	broad.mit.edu	37	chr8	133036882	133036882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggcacagggtgcaggctgTcttcacaggctgctggctgc	16	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:133036882T>C	uc003ytg.2	-	13	1280	c.1280A>G	c.(1279-1281)GAC>GGC	p.D427G	OC90_uc011lix.1_Missense_Mutation_p.D427G	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90	443					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GTGCAGGCTGTCTTCACAGGC	0.652													C	133036882	T	C	133036882	3	2	27	1	0	0	0	0	1	0	0	0	10814	1667	58	3	157	3	OC90	8	133036882	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1120609	133036882	13327140	4283	28234											
KCNQ3	3786	broad.mit.edu	37	chr8	133150247	133150247	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttgaatttttttttatagaGacggaattgtagaattctgc	8	4	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:133150247G>A	uc003ytj.2	-	12	1810	c.1585C>T	c.(1585-1587)CTC>TTC	p.L529F	KCNQ3_uc010mdt.2_Missense_Mutation_p.L529F	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	529					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTTTTATAGAGACGGAATTGT	0.458													A	133150247	G	A	133150247	3	1	27	1	0	0	0	0	1	0	0	0	8084	942	33	4	1049	4	KCNQ3	8	133150247	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	113365	133150247	13213775	4284	28235											
KCNQ3	3786	broad.mit.edu	37	chr8	133187785	133187785	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacctctgggacgtctttcTcaaccaggtagacaagaaat	8	12	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:133187785T>C	uc003ytj.2	-	5	1073	c.848A>G	c.(847-849)GAG>GGG	p.E283G	KCNQ3_uc010mdt.2_Missense_Mutation_p.E283G	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	283					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GACGTCTTTCTCAACCAGGTA	0.488													C	133187785	T	C	133187785	3	2	27	1	0	0	0	0	1	0	0	0	8084	1551	54	3	1814	3	KCNQ3	8	133187785	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	37538	133187785	13176237	4285	28236											
KCNQ3	3786	broad.mit.edu	37	chr8	133196541	133196541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcggccccgccagcctttgTatcggcagcaacatccagca	10	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:133196541T>C	uc003ytj.2	-	3	776	c.551A>G	c.(550-552)TAC>TGC	p.Y184C	KCNQ3_uc010mdt.2_Missense_Mutation_p.Y184C	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	184					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCAGCCTTTGTATCGGCAGCA	0.537													C	133196541	T	C	133196541	3	2	27	1	0	0	0	0	1	0	0	0	8084	1638	57	3	2119	3	KCNQ3	8	133196541	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	8756	133196541	13167481	4286	28237											
KCNQ3	3786	broad.mit.edu	37	chr8	133492463	133492463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagatcaaagtttggatgCgccggtacttggcgttgttt	13	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:133492463C>T	uc003ytj.2	-	1	542	c.317G>A	c.(316-318)CGC>CAC	p.R106H	KCNQ3_uc010mdt.2_Missense_Mutation_p.R106H	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	106					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGTTTGGATGCGCCGGTACTT	0.582													T	133492463	C	T	133492463	3	4	27	1	0	0	0	0	1	0	0	0	8084	768	27	1	2361	1	KCNQ3	8	133492463	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	295922	133492463	12871559	4287	28238											
LRRC6	23639	broad.mit.edu	37	chr8	133645002	133645002	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atacagagtagcattgatgtCtgtgtaccaacgtccatcaa	8	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:133645002C>T	uc003ytk.2	-	5	711	c.637G>A	c.(637-639)GAC>AAC	p.D213N	LRRC6_uc003ytl.2_RNA	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	213						cytoplasm				ovary(1)|kidney(1)	2	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GCATTGATGTCTGTGTACCAA	0.378													T	133645002	C	T	133645002	3	4	27	1	0	0	0	0	1	0	0	0	9016	913	32	4	795	4	LRRC6	8	133645002	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	152539	133645002	12719020	4288	28239											
PHF20L1	51105	broad.mit.edu	37	chr8	133837511	133837511	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcacttttatcttttaggtAagagaaaagaaaaagataag	7	3	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:133837511A>G	uc003ytt.2	+	14	1964	c.1639A>G	c.(1639-1641)AAG>GAG	p.K547E	PHF20L1_uc003yts.2_3'UTR|PHF20L1_uc011lja.1_Missense_Mutation_p.K521E|PHF20L1_uc003ytu.1_RNA	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	547	Lys-rich.						nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCTTTTAGGTaagagaaaaga	0.214													G	133837511	A	G	133837511	3	3	27	1	0	0	0	0	1	0	0	0	11832	363	13	3	1785	3	PHF20L1	8	133837511	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	192509	133837511	12526511	4289	28240											
PHF20L1	51105	broad.mit.edu	37	chr8	133851656	133851656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtggagtgcaaaatatcGttatgataaggagtggttga	15	2	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:133851656G>A	uc003ytt.2	+	18	2541	c.2216G>A	c.(2215-2217)CGT>CAT	p.R739H	PHF20L1_uc011lja.1_Missense_Mutation_p.R713H	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	739							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCAAAATATCGTTATGATAAG	0.368													A	133851656	G	A	133851656	3	1	27	1	0	0	0	0	1	0	0	0	11832	1145	40	1	2378	1	PHF20L1	8	133851656	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	14145	133851656	12512366	4290	28241											
TG	7038	broad.mit.edu	37	chr8	133895214	133895214	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggaaggaaatgcatggaAcccggcagcaaggggagccg	18	8	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:133895214A>G	uc003ytw.2	+	8	1086	c.1045A>G	c.(1045-1047)ACC>GCC	p.T349A		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	349	Thyroglobulin type-1 4.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AATGCATGGAACCCGGCAGCA	0.612													G	133895214	A	G	133895214	3	3	27	1	0	0	0	0	1	0	0	0	15810	43	2	3	1075	3	TG	8	133895214	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	43558	133895214	12468808	4291	28242											
TG	7038	broad.mit.edu	37	chr8	133984908	133984908	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcagtgaggagaatggaGgagcctggcgcattttggac	17	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:133984908G>T	uc003ytw.2	+	34	6162	c.6121G>T	c.(6121-6123)GGA>TGA	p.G2041*	TG_uc010mdw.2_Nonsense_Mutation_p.G800*|TG_uc011ljb.1_Nonsense_Mutation_p.G410*|TG_uc011ljc.1_Nonsense_Mutation_p.G195*	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2041	Type IIIB.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGAGAATGGAGGAGCCTGGCG	0.483													T	133984908	G	T	133984908	4	4	27	1	0	0	0	0	0	1	0	0	15810	1001	35	5	6255	5	TG	8	133984908	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	89694	133984908	12379114	4292	28243											
SLA	6503	broad.mit.edu	37	chr8	134062229	134062229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatagctttccaccagccccCttcactgtaagaacaagaac	5	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:134062229C>T	uc003ytz.2	-	5	998	c.166G>A	c.(166-168)GGG>AGG	p.G56R	TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Missense_Mutation_p.G73R|SLA_uc011ljf.1_5'UTR|SLA_uc011ljg.1_Missense_Mutation_p.G73R|SLA_uc010mdy.1_Missense_Mutation_p.G56R|SLA_uc010mdz.1_Missense_Mutation_p.G56R|SLA_uc010mea.2_RNA|SLA_uc011ljd.1_Missense_Mutation_p.G96R	NM_001045556	NP_001039021	Q13239	SLAP1_HUMAN	Src-like-adaptor isoform a	56	SH3.					endosome	SH3/SH2 adaptor activity			lung(1)|liver(1)	2	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			CACCAGCCCCCTTCACTGTAA	0.418													T	134062229	C	T	134062229	3	4	27	1	0	0	0	0	1	0	0	0	14363	681	24	4	684	4	SLA	8	134062229	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	77321	134062229	12301793	4293	28244											
TG	7038	broad.mit.edu	37	chr8	134108554	134108554	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaggtctttatgggtagaGgtcgatctgctcattgggag	15	5	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:134108554G>T	uc003ytw.2	+	43	7550	c.7509G>T	c.(7507-7509)GAG>GAT	p.E2503D	TG_uc010mdw.2_Missense_Mutation_p.E1262D|TG_uc011ljb.1_Missense_Mutation_p.E872D|TG_uc011ljc.1_Missense_Mutation_p.E636D|SLA_uc003ytz.2_Intron|SLA_uc011lje.1_Intron|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Intron|SLA_uc010mea.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2503					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TATGGGTAGAGGTCGATCTGC	0.587													T	134108554	G	T	134108554	3	4	27	1	0	0	0	0	1	0	0	0	15810	991	35	5	7679	5	TG	8	134108554	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	46325	134108554	12255468	4294	28245											
TG	7038	broad.mit.edu	37	chr8	134145772	134145772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacatttgcaaccccctggCctgactttgtaccccgtgct	7	17	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:134145772C>T	uc003ytw.2	+	47	8097	c.8056C>T	c.(8056-8058)CCT>TCT	p.P2686S	TG_uc010mdw.2_Missense_Mutation_p.P1445S|TG_uc011ljb.1_Missense_Mutation_p.P1055S|TG_uc011ljc.1_Missense_Mutation_p.P819S	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2686					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AACCCCCTGGCCTGACTTTGT	0.502													T	134145772	C	T	134145772	3	4	27	1	0	0	0	0	1	0	0	0	15810	739	26	2	8242	2	TG	8	134145772	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	37218	134145772	12218250	4295	28246											
NDRG1	10397	broad.mit.edu	37	chr8	134276877	134276877	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgaacagagccatgtaAagtctcgatgtcctgctcct	10	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:134276877A>C	uc003yuh.2	-	4	704	c.118T>G	c.(118-120)TTA>GTA	p.L40V	NDRG1_uc003yug.2_Missense_Mutation_p.L40V|NDRG1_uc010mee.2_Intron|NDRG1_uc010mef.2_5'UTR|NDRG1_uc011ljh.1_5'UTR|NDRG1_uc011lji.1_Intron	NM_001135242	NP_001128714	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	40					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding			ovary(4)	4	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GAGCCATGTAAAGTCTCGATG	0.562													C	134276877	A	C	134276877	3	2	27	1	0	0	0	0	1	0	0	0	10251	11	1	5	1118	5	NDRG1	8	134276877	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	131105	134276877	12087145	4296	28247											
FAM135B	51059	broad.mit.edu	37	chr8	139180136	139180136	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccaaaacaaaacagacaaAcctgtcgcagggcagtccac	7	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:139180136A>C	uc003yuy.2	-	12	1429	c.1258_splice	c.e12+1	p.G420_splice	FAM135B_uc003yux.2_Splice_Site_p.G321_splice|FAM135B_uc003yuz.2_Splice_Site	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059											ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAACAGACAAACCTGTCGCAG	0.502										HNSCC(54;0.14)			C	139180136	A	C	139180136	5	2	27	1	0	0	0	0	0	0	1	0	5449	57	2	5	2996	5	FAM135B	8	139180136	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4903259	139180136	7183886	4297	28248											
FAM135B	51059	broad.mit.edu	37	chr8	139278000	139278000	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accacagcatcatttatgggTacctcttcattccggtataa	6	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:139278000T>C	uc003yuy.2	-	4	414	c.243A>G	c.(241-243)GTA>GTG	p.V81V	FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	81										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CATTTATGGGTACCTCTTCAT	0.483										HNSCC(54;0.14)			C	139278000	T	C	139278000	2	2	27	1	0	0	0	0	0	0	0	1	5449	1625	57	3		3	FAM135B	8	139278000	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	97864	139278000	7086022	4298	28249											
KCNK9	51305	broad.mit.edu	37	chr8	140715061	140715061	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccagctccagctgccggtAgtcctcgctgctgatgttgt	11	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:140715061A>G	uc003yvf.1	-	1	239	c.175T>C	c.(175-177)TAC>CAC	p.Y59H	KCNK9_uc003yvg.1_Missense_Mutation_p.Y59H	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	59	Extracellular (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			AGCTGCCGGTAGTCCTCGCTG	0.607													G	140715061	A	G	140715061	3	3	27	1	0	0	0	0	1	0	0	0	8072	420	15	3	957	3	KCNK9	8	140715061	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1437061	140715061	5648961	4299	28250											
TRAPPC9	83696	broad.mit.edu	37	chr8	141297761	141297761	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgacgagcgtcactgggtAcagaccagattcagccggaa	12	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:141297761A>G	uc003yvj.2	-	13	2061	c.1927T>C	c.(1927-1929)TAC>CAC	p.Y643H	TRAPPC9_uc003yvh.2_Missense_Mutation_p.Y741H|TRAPPC9_uc010mel.1_Missense_Mutation_p.Y64H|TRAPPC9_uc003yvi.1_Missense_Mutation_p.Y634H	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	643					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						GTCACTGGGTACAGACCAGAT	0.587													G	141297761	A	G	141297761	3	3	27	1	0	0	0	0	1	0	0	0	16462	391	14	3	1563	3	TRAPPC9	8	141297761	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	582700	141297761	5066261	4300	28251											
TRAPPC9	83696	broad.mit.edu	37	chr8	141301164	141301164	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttcacacacatctccttgAacccactggaaatctagaaa	4	13	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:141301164A>G	uc003yvj.2	-	12	1916	c.1782T>C	c.(1780-1782)GTT>GTC	p.V594V	TRAPPC9_uc003yvh.2_Silent_p.V692V|TRAPPC9_uc010mel.1_Silent_p.V15V|TRAPPC9_uc003yvi.1_Silent_p.V585V	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	594					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						CATCTCCTTGAACCCACTGGA	0.358													G	141301164	A	G	141301164	2	3	27	1	0	0	0	0	0	0	0	1	16462	233	9	3		3	TRAPPC9	8	141301164	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3403	141301164	5062858	4301	28252											
TRAPPC9	83696	broad.mit.edu	37	chr8	141449272	141449272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacgtgcttccgcatgcgGccttggcaccgcttcttgta	10	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:141449272G>A	uc003yvj.2	-	3	743	c.609C>T	c.(607-609)GGC>GGT	p.G203G	TRAPPC9_uc003yvh.2_Silent_p.G301G|TRAPPC9_uc003yvi.1_Silent_p.G203G	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	203					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						TCCGCATGCGGCCTTGGCACC	0.507													A	141449272	G	A	141449272	2	1	27	1	0	0	0	0	0	0	0	1	16462	1190	42	2		2	TRAPPC9	8	141449272	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	148108	141449272	4914750	4302	28253											
EIF2C2	27161	broad.mit.edu	37	chr8	141542676	141542676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaggagaaacgattgtcGtcccagaggacgtgatagtg	14	7	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:141542676G>A	uc003yvn.2	-	18	2350	c.2310C>T	c.(2308-2310)GAC>GAT	p.D770D	EIF2C2_uc010men.2_Silent_p.D693D|EIF2C2_uc010meo.2_Silent_p.D736D	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	770	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			AACGATTGTCGTCCCAGAGGA	0.517													A	141542676	G	A	141542676	2	1	27	1	0	0	0	0	0	0	0	1	5006	1136	40	1		1	EIF2C2	8	141542676	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	93404	141542676	4821346	4303	28254											
EIF2C2	27161	broad.mit.edu	37	chr8	141551423	141551423	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacgcgcacggtggcgcagTagcgattggggtgggcgtcc	19	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:141551423T>C	uc003yvn.2	-	15	1914	c.1874A>G	c.(1873-1875)TAC>TGC	p.Y625C	EIF2C2_uc010men.2_Missense_Mutation_p.Y548C|EIF2C2_uc010meo.2_Missense_Mutation_p.Y625C	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	625	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			GGTGGCGCAGTAGCGATTGGG	0.622													C	141551423	T	C	141551423	3	2	27	1	0	0	0	0	1	0	0	0	5006	1638	57	3	725	3	EIF2C2	8	141551423	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	8747	141551423	4812599	4304	28255											
EIF2C2	27161	broad.mit.edu	37	chr8	141559224	141559224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacctaccgtacacgggcGtcttgccgggcaggatgacc	12	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:141559224G>A	uc003yvn.2	-	12	1617	c.1577C>T	c.(1576-1578)ACG>ATG	p.T526M	EIF2C2_uc010men.2_Missense_Mutation_p.T449M|EIF2C2_uc010meo.2_Missense_Mutation_p.T526M	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	526	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			GTACACGGGCGTCTTGCCGGG	0.647													A	141559224	G	A	141559224	3	1	27	1	0	0	0	0	1	0	0	0	5006	1145	40	1	1034	1	EIF2C2	8	141559224	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	7801	141559224	4804798	4305	28256											
EIF2C2	27161	broad.mit.edu	37	chr8	141566109	141566109	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatctgtgttgaaacttgcActtcgcatctggcaaaggga	12	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:141566109A>G	uc003yvn.2	-	10	1195	c.1155T>C	c.(1153-1155)AGT>AGC	p.S385S	EIF2C2_uc010men.2_Silent_p.S308S|EIF2C2_uc010meo.2_Silent_p.S385S	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	385					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			TGAAACTTGCACTTCGCATCT	0.537													G	141566109	A	G	141566109	2	3	27	1	0	0	0	0	0	0	0	1	5006	156	6	3		3	EIF2C2	8	141566109	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	6885	141566109	4797913	4306	28257											
PTK2	5747	broad.mit.edu	37	chr8	141745491	141745491	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcaattcgaccgattacaTcattgttcttcactccttga	4	11	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:141745491T>C	uc003yvu.2	-	22	2119	c.1889A>G	c.(1888-1890)GAT>GGT	p.D630G	PTK2_uc003yvo.2_Missense_Mutation_p.D258G|PTK2_uc011ljq.1_Missense_Mutation_p.D325G|PTK2_uc003yvp.2_Missense_Mutation_p.D298G|PTK2_uc003yvq.2_Missense_Mutation_p.D156G|PTK2_uc003yvr.2_Missense_Mutation_p.D570G|PTK2_uc003yvs.2_Missense_Mutation_p.D630G|PTK2_uc003yvt.2_Missense_Mutation_p.D652G|PTK2_uc003yvv.2_Missense_Mutation_p.D530G|PTK2_uc011ljr.1_Missense_Mutation_p.D630G|MIR151_hsa-mir-151|MI0000809_5'Flank	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	630	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ACCGATTACATCATTGTTCTT	0.458													C	141745491	T	C	141745491	3	2	27	1	0	0	0	0	1	0	0	0	12762	1435	50	3	1313	3	PTK2	8	141745491	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	179382	141745491	4618531	4307	28258											
PTK2	5747	broad.mit.edu	37	chr8	141754863	141754863	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttacttgcaaaaatgaccTcagcttttggaacaatgacc	6	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:141754863T>C	uc003yvu.2	-	19	1752	c.1522A>G	c.(1522-1524)AGG>GGG	p.R508G	PTK2_uc003yvo.2_Missense_Mutation_p.R136G|PTK2_uc011ljq.1_Missense_Mutation_p.R203G|PTK2_uc003yvp.2_Missense_Mutation_p.R176G|PTK2_uc003yvq.2_Missense_Mutation_p.R34G|PTK2_uc003yvr.2_Missense_Mutation_p.R448G|PTK2_uc003yvs.2_Missense_Mutation_p.R508G|PTK2_uc003yvt.2_Missense_Mutation_p.R530G|PTK2_uc003yvv.2_Missense_Mutation_p.R408G|PTK2_uc011ljr.1_Missense_Mutation_p.R508G	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	508	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			AAAAATGACCTCAGCTTTTGG	0.343													C	141754863	T	C	141754863	3	2	27	1	0	0	0	0	1	0	0	0	12762	1550	54	3	1692	3	PTK2	8	141754863	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9372	141754863	4609159	4308	28259											
PTK2	5747	broad.mit.edu	37	chr8	141889685	141889685	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgactgaggcggaatccatAgcaggccacatgctttactt	11	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:141889685A>G	uc003yvu.2	-	4	477	c.247T>C	c.(247-249)TAT>CAT	p.Y83H	PTK2_uc003yvr.2_5'UTR|PTK2_uc003yvs.2_Missense_Mutation_p.Y83H|PTK2_uc003yvt.2_Missense_Mutation_p.Y105H|PTK2_uc003yvv.2_Intron|PTK2_uc011ljr.1_Missense_Mutation_p.Y83H	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	83	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CGGAATCCATAGCAGGCCACA	0.478													G	141889685	A	G	141889685	3	3	27	1	0	0	0	0	1	0	0	0	12762	420	15	3	3027	3	PTK2	8	141889685	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	134822	141889685	4474337	4309	28260											
DENND3	22898	broad.mit.edu	37	chr8	142178176	142178176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccgctggagagcaagtgCgtgcaggcataccatgccca	12	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:142178176C>T	uc003yvy.2	+	13	1865	c.1587C>T	c.(1585-1587)TGC>TGT	p.C529C	DENND3_uc010mep.2_Silent_p.C490C|DENND3_uc003yvz.1_Silent_p.C213C	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	529										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AGAGCAAGTGCGTGCAGGCAT	0.532													T	142178176	C	T	142178176	2	4	27	1	0	0	0	0	0	0	0	1	4432	776	27	1		1	DENND3	8	142178176	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	288491	142178176	4185846	4310	28261											
SLC45A4	57210	broad.mit.edu	37	chr8	142231844	142231844	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggaaccaggtgaggcTgtagtactgctccggaaggc	15	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:142231844T>C	uc003ywd.1	-	2	417	c.109A>G	c.(109-111)AGC>GGC	p.S37G	SLC45A4_uc003ywc.1_Missense_Mutation_p.S37G|SLC45A4_uc010meq.1_Missense_Mutation_p.S35G	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	88	Helical; (Potential).				transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGGTGAGGCTGTAGTACTGC	0.672													C	142231844	T	C	142231844	3	2	27	1	0	0	0	0	1	0	0	0	14643	1580	55	3	2315	3	SLC45A4	8	142231844	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	53668	142231844	4132178	4311	28262											
FLJ43860	389690	broad.mit.edu	37	chr8	142445024	142445024	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aattcctcctggctgcgggtCatctggccggaggagagcac	14	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:142445024C>T	uc003ywi.2	-	30	3762	c.3681G>A	c.(3679-3681)ATG>ATA	p.M1227I	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_Intron	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	1227							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGCTGCGGGTCATCTGGCCGG	0.637													T	142445024	C	T	142445024	3	4	27	1	0	0	0	0	1	0	0	0	5930	826	29	4	287	4	FLJ43860	8	142445024	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	213180	142445024	3918998	4312	28263											
BAI1	575	broad.mit.edu	37	chr8	143623370	143623370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgaagcggccgtctctgCccgaggaggagaagctgaag	15	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:143623370C>T	uc003ywm.2	+	27	3958	c.3775C>T	c.(3775-3777)CCC>TCC	p.P1259S		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1259	Cytoplasmic (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCCGTCTCTGCCCGAGGAGGA	0.672													T	143623370	C	T	143623370	3	4	27	1	0	0	0	0	1	0	0	0	1298	739	26	2	3881	2	BAI1	8	143623370	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1178346	143623370	2740652	4313	28264											
ARC	23237	broad.mit.edu	37	chr8	143694743	143694743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacaggaactggtccagcGgctcgccctgcttctgcggc	13	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:143694743G>A	uc003ywn.1	-	1	1091	c.890C>T	c.(889-891)CCG>CTG	p.P297L		NM_015193	NP_056008	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated	297					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)	1	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CTGGTCCAGCGGCTCGCCCTG	0.647													A	143694743	G	A	143694743	3	1	27	1	0	0	0	0	1	0	0	0	841	1116	39	1	304	1	ARC	8	143694743	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	71373	143694743	2669279	4314	28265											
ARC	23237	broad.mit.edu	37	chr8	143694953	143694953	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccgcccacctgccgcaagTactcctctaggtggctcagg	11	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:143694953T>C	uc003ywn.1	-	1	881	c.680A>G	c.(679-681)TAC>TGC	p.Y227C		NM_015193	NP_056008	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated	227					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)	1	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CTGCCGCAAGTACTCCTCTAG	0.647													C	143694953	T	C	143694953	3	2	27	1	0	0	0	0	1	0	0	0	841	1638	57	3	514	3	ARC	8	143694953	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	210	143694953	2669069	4315	28266											
LY6K	54742	broad.mit.edu	37	chr8	143784650	143784650	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagtgttgtaaaattcgctActgcaatttagaggggccac	10	8	0	1	rs141724373	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:143784650A>G	uc011ljv.1	+	3	776	c.359A>G	c.(358-360)TAC>TGC	p.Y120C	LY6K_uc011ljw.1_3'UTR|LY6K_uc011ljx.1_3'UTR	NM_017527	NP_059997	Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K isoform 1	120	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				central_nervous_system(1)	1	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AAAATTCGCTACTGCAATTTA	0.527													G	143784650	A	G	143784650	3	3	27	1	0	0	0	0	1	0	0	0	9098	391	14	3	519	3	LY6K	8	143784650	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	89697	143784650	2579372	4316	28267											
CYP11B1	1584	broad.mit.edu	37	chr8	143961155	143961155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacccgggcggctctcgtGcccagtgcctgtgccctttg	15	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:143961155G>A	uc003yxi.2	-	1	82	c.75C>T	c.(73-75)GGC>GGT	p.G25G	CYP11B1_uc003yxj.2_Silent_p.G25G|CYP11B1_uc010mey.2_Silent_p.G25G	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	25					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CGGCTCTCGTGCCCAGTGCCT	0.652									Familial_Hyperaldosteronism_type_I				A	143961155	G	A	143961155	2	1	27	1	0	0	0	0	0	0	0	1	4145	1306	46	2		2	CYP11B1	8	143961155	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	176505	143961155	2402867	4317	28268											
CYP11B2	1585	broad.mit.edu	37	chr8	143994781	143994781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcactgatgctggctgcGgcggccaggctctcctggcg	15	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:143994781G>A	uc003yxk.1	-	6	1044	c.1041C>T	c.(1039-1041)GCC>GCT	p.A347A		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	347					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	TGCTGGCTGCGGCGGCCAGGC	0.642									Familial_Hyperaldosteronism_type_I				A	143994781	G	A	143994781	2	1	27	1	0	0	0	0	0	0	0	1	4146	1103	39	1		1	CYP11B2	8	143994781	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	33626	143994781	2369241	4318	28269											
ZNF696	79943	broad.mit.edu	37	chr8	144378517	144378517	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcggccagaggtcggacgcCgccaagcaccgccgcaccca	12	18	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:144378517C>T	uc003yxy.3	+	3	1081	c.672C>T	c.(670-672)GCC>GCT	p.A224A		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	224	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGTCGGACGCCGCCAAGCACC	0.716													T	144378517	C	T	144378517	2	4	27	1	0	0	0	0	0	0	0	1	18096	639	23	1		1	ZNF696	8	144378517	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	383736	144378517	1985505	4319	28270											
TOP1MT	116447	broad.mit.edu	37	chr8	144413431	144413431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccgtcgggaaggggctcGtatgggggtgcgaagtacgg	19	8	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:144413431G>A	uc003yxz.2	-	2	220	c.201C>T	c.(199-201)TAC>TAT	p.Y67Y	TOP1MT_uc011lkd.1_Translation_Start_Site|TOP1MT_uc011lke.1_Translation_Start_Site|TOP1MT_uc010mfb.2_Translation_Start_Site|TOP1MT_uc010mfd.1_Translation_Start_Site	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	67					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GAAGGGGCTCGTATGGGGGTG	0.622													A	144413431	G	A	144413431	2	1	27	1	0	0	0	0	0	0	0	1	16361	1140	40	1		1	TOP1MT	8	144413431	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	34914	144413431	1950591	4320	28271											
RHPN1	114822	broad.mit.edu	37	chr8	144462909	144462909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtatgcggagctcgaccGtgaggatgacttctgtgagg	15	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:144462909G>A	uc003yyb.2	+	11	1500	c.1367G>A	c.(1366-1368)CGT>CAT	p.R456H		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	rhophilin 1	481	BRO1.				signal transduction	intracellular				large_intestine(1)	1	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GAGCTCGACCGTGAGGATGAC	0.682													A	144462909	G	A	144462909	3	1	27	1	0	0	0	0	1	0	0	0	13350	1145	40	1	1409	1	RHPN1	8	144462909	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	49478	144462909	1901113	4321	28272											
ZC3H3	23144	broad.mit.edu	37	chr8	144620360	144620360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggcctccgactgccaacGgaaggaggaagaggaggagg	18	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:144620360G>A	uc003yyd.2	-	2	1206	c.1177C>T	c.(1177-1179)CGT>TGT	p.R393C		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	393					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GACTGCCAACGGAAGGAGGAA	0.647													A	144620360	G	A	144620360	3	1	27	1	0	0	0	0	1	0	0	0	17566	1116	39	1	1713	1	ZC3H3	8	144620360	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	157451	144620360	1743662	4322	28273											
TSTA3	7264	broad.mit.edu	37	chr8	144696501	144696501	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcactcactcttggccaggTgcaccttgtggatgaggcca	12	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:144696501T>C	uc003yza.2	-	6	623	c.587A>G	c.(586-588)CAC>CGC	p.H196R	TSTA3_uc003yzb.2_Missense_Mutation_p.H196R	NM_003313	NP_003304	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	196					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			pancreas(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	CTTGGCCAGGTGCACCTTGTG	0.632													C	144696501	T	C	144696501	3	2	27	1	0	0	0	0	1	0	0	0	16671	1696	59	3	402	3	TSTA3	8	144696501	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	76141	144696501	1667521	4323	28274											
ZNF623	9831	broad.mit.edu	37	chr8	144732976	144732976	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accttattgaacaccagagaAttcacaccggagagagaccc	8	12	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:144732976A>T	uc003yzd.2	+	1	1023	c.934A>T	c.(934-936)ATT>TTT	p.I312F	ZNF623_uc011lkp.1_Missense_Mutation_p.I272F|ZNF623_uc003yzc.2_Missense_Mutation_p.I272F	NM_014789	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623 isoform 1	312	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACACCAGAGAATTCACACCGG	0.458													T	144732976	A	T	144732976	3	4	27	1	0	0	0	0	1	0	0	0	18044	101	4	5	936	5	ZNF623	8	144732976	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	36475	144732976	1631046	4324	28275											
SCRIB	23513	broad.mit.edu	37	chr8	144874878	144874878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacttccgtgcccctcacCttcctcctcctgcatcttcc	3	23	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:144874878C>T	uc003yzp.1	-	30	4184	c.4177G>A	c.(4177-4179)GCC>ACC	p.A1393T	SCRIB_uc003yzn.1_Missense_Mutation_p.G102S|SCRIB_uc003yzo.1_Missense_Mutation_p.A1393T	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1393	Potential.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGCCCCTCACCTTCCTCCTCC	0.667													T	144874878	C	T	144874878	3	4	27	1	0	0	0	0	1	0	0	0	13937	695	24	4	822	4	SCRIB	8	144874878	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	141902	144874878	1489144	4325	28276											
SCRIB	23513	broad.mit.edu	37	chr8	144877663	144877663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgttccggtggccgatgCctgccgcaaaggggttggca	17	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:144877663C>T	uc003yzp.1	-	25	3648	c.3641G>A	c.(3640-3642)GGC>GAC	p.G1214D	SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.G1214D	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1214	Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GTGGCCGATGCCTGCCGCAAA	0.667													T	144877663	C	T	144877663	3	4	27	1	0	0	0	0	1	0	0	0	13937	739	26	2	1378	2	SCRIB	8	144877663	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2785	144877663	1486359	4326	28277											
PUF60	22827	broad.mit.edu	37	chr8	144898884	144898884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctcttggtagatgatgaCgcggttcacggccccgaact	11	11	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:144898884C>T	uc003yzs.2	-	12	1550	c.1486G>A	c.(1486-1488)GTC>ATC	p.V496I	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.V436I|PUF60_uc003yzt.2_Missense_Mutation_p.V479I|PUF60_uc003yzq.2_Missense_Mutation_p.V453I	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	496	RRM 3; atypical.|Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TAGATGATGACGCGGTTCACG	0.517													T	144898884	C	T	144898884	3	4	27	1	0	0	0	0	1	0	0	0	12824	536	19	1	197	1	PUF60	8	144898884	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	21221	144898884	1465138	4327	28278											
PUF60	22827	broad.mit.edu	37	chr8	144900179	144900179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgtagatgcggttgaaggCccgtgcctcctcagccaact	11	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:144900179C>T	uc003yzs.2	-	8	734	c.670G>A	c.(670-672)GCC>ACC	p.A224T	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.A164T|PUF60_uc003yzt.2_Missense_Mutation_p.A207T|PUF60_uc003yzq.2_Missense_Mutation_p.A181T|PUF60_uc003yzu.1_Missense_Mutation_p.A213T	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	224	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGGTTGAAGGCCCGTGCCTCC	0.587													T	144900179	C	T	144900179	3	4	27	1	0	0	0	0	1	0	0	0	12824	739	26	2	1029	2	PUF60	8	144900179	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1295	144900179	1463843	4328	28279											
PUF60	22827	broad.mit.edu	37	chr8	144902883	144902883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcccattgtcactgctgCcatctgaaagacagtaaaga	8	10	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:144902883C>T	uc003yzs.2	-	5	365	c.301G>A	c.(301-303)GCA>ACA	p.A101T	PUF60_uc003yzr.2_Intron|PUF60_uc003yzt.2_Intron|PUF60_uc003yzq.2_Missense_Mutation_p.A58T|PUF60_uc003yzu.1_Missense_Mutation_p.A90T	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	101	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GTCACTGCTGCCATCTGAAAG	0.542													T	144902883	C	T	144902883	3	4	27	1	0	0	0	0	1	0	0	0	12824	739	26	2	1410	2	PUF60	8	144902883	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2704	144902883	1461139	4329	28280											
NRBP2	340371	broad.mit.edu	37	chr8	144920921	144920921	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgacccgggtgtccccAttggtctggatttccagtac	11	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:144920921A>G	uc011lkt.1	-	10	911	c.771T>C	c.(769-771)AAT>AAC	p.N257N	NRBP2_uc003yzv.2_Silent_p.N14N|NRBP2_uc003yzz.1_5'Flank|NRBP2_uc003yzw.2_5'Flank|NRBP2_uc010mfl.2_5'Flank|NRBP2_uc010mfm.2_Silent_p.N14N|NRBP2_uc011lks.1_Silent_p.N14N|NRBP2_uc003yzy.2_Silent_p.N14N	NM_178564	NP_848659	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	257	Protein kinase.				negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)	2	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGGTGTCCCCATTGGTCTGGA	0.637													G	144920921	A	G	144920921	2	3	27	1	0	0	0	0	0	0	0	1	10643	214	8	3		3	NRBP2	8	144920921	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	18038	144920921	1443101	4330	28281											
EPPK1	83481	broad.mit.edu	37	chr8	144940304	144940304	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggtcggccaggacgcggTtcatctcctcgtcgaagtag	15	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:144940304T>C	uc003zaa.1	-	2	15141	c.15128A>G	c.(15127-15129)AAC>AGC	p.N5043S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	5043	Plectin 64.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGACGCGGTTCATCTCCTC	0.682													C	144940304	T	C	144940304	3	2	27	1	0	0	0	0	1	0	0	0	5190	1725	60	3	148	3	EPPK1	8	144940304	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	19383	144940304	1423718	4331	28282											
EPPK1	83481	broad.mit.edu	37	chr8	144942445	144942445	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggaagagggagatctgCtgcccggtataggggtcggt	18	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:144942445C>T	uc003zaa.1	-	1	4990	c.4977G>A	c.(4975-4977)CAG>CAA	p.Q1659Q		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1659	Plectin 28.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGAGATCTGCTGCCCGGTAT	0.637													T	144942445	C	T	144942445	2	4	27	1	0	0	0	0	0	0	0	1	5190	796	28	2		2	EPPK1	8	144942445	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2141	144942445	1421577	4332	28283											
PLEC	5339	broad.mit.edu	37	chr8	144991141	144991141	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgtctccgtgtccaggAtgccagccacggggcccgtc	13	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:144991141A>G	uc003zaf.1	-	32	13429	c.13259T>C	c.(13258-13260)ATC>ACC	p.I4420T	PLEC_uc003zab.1_Missense_Mutation_p.I4283T|PLEC_uc003zac.1_Missense_Mutation_p.I4287T|PLEC_uc003zad.2_Missense_Mutation_p.I4283T|PLEC_uc003zae.1_Missense_Mutation_p.I4251T|PLEC_uc003zag.1_Missense_Mutation_p.I4261T|PLEC_uc003zah.2_Missense_Mutation_p.I4269T|PLEC_uc003zaj.2_Missense_Mutation_p.I4310T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4420	Globular 2.|Plectin 29.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CGTGTCCAGGATGCCAGCCAC	0.677													G	144991141	A	G	144991141	3	3	27	1	0	0	0	0	1	0	0	0	12052	333	12	3	799	3	PLEC	8	144991141	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	48696	144991141	1372881	4333	28284											
PLEC	5339	broad.mit.edu	37	chr8	144991345	144991345	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggtccagtgccgagcggTcgatgaggttcttggcgatg	16	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:144991345T>C	uc003zaf.1	-	32	13225	c.13055A>G	c.(13054-13056)GAC>GGC	p.D4352G	PLEC_uc003zab.1_Missense_Mutation_p.D4215G|PLEC_uc003zac.1_Missense_Mutation_p.D4219G|PLEC_uc003zad.2_Missense_Mutation_p.D4215G|PLEC_uc003zae.1_Missense_Mutation_p.D4183G|PLEC_uc003zag.1_Missense_Mutation_p.D4193G|PLEC_uc003zah.2_Missense_Mutation_p.D4201G|PLEC_uc003zaj.2_Missense_Mutation_p.D4242G	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4352	Globular 2.|Plectin 28.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TGCCGAGCGGTCGATGAGGTT	0.647													C	144991345	T	C	144991345	3	2	27	1	0	0	0	0	1	0	0	0	12052	1667	58	3	1003	3	PLEC	8	144991345	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	204	144991345	1372677	4334	28285											
PLEC	5339	broad.mit.edu	37	chr8	144993077	144993077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcacgtagtcgtaggaggCcagaccctgctggcggatga	16	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:144993077C>T	uc003zaf.1	-	32	11493	c.11323G>A	c.(11323-11325)GCC>ACC	p.A3775T	PLEC_uc003zab.1_Missense_Mutation_p.A3638T|PLEC_uc003zac.1_Missense_Mutation_p.A3642T|PLEC_uc003zad.2_Missense_Mutation_p.A3638T|PLEC_uc003zae.1_Missense_Mutation_p.A3606T|PLEC_uc003zag.1_Missense_Mutation_p.A3616T|PLEC_uc003zah.2_Missense_Mutation_p.A3624T|PLEC_uc003zaj.2_Missense_Mutation_p.A3665T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3775	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TCGTAGGAGGCCAGACCCTGC	0.602													T	144993077	C	T	144993077	3	4	27	1	0	0	0	0	1	0	0	0	12052	739	26	2	2735	2	PLEC	8	144993077	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1732	144993077	1370945	4335	28286											
PLEC	5339	broad.mit.edu	37	chr8	144993131	144993131	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgatctcgatgatgatgaTgatcatgcgttccttggtca	10	7	3	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:144993131T>C	uc003zaf.1	-	32	11439	c.11269A>G	c.(11269-11271)ATC>GTC	p.I3757V	PLEC_uc003zab.1_Missense_Mutation_p.I3620V|PLEC_uc003zac.1_Missense_Mutation_p.I3624V|PLEC_uc003zad.2_Missense_Mutation_p.I3620V|PLEC_uc003zae.1_Missense_Mutation_p.I3588V|PLEC_uc003zag.1_Missense_Mutation_p.I3598V|PLEC_uc003zah.2_Missense_Mutation_p.I3606V|PLEC_uc003zaj.2_Missense_Mutation_p.I3647V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3757	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						ATGATGATGATGATCATGCGT	0.617													C	144993131	T	C	144993131	3	2	27	1	0	0	0	0	1	0	0	0	12052	1464	51	3	2789	3	PLEC	8	144993131	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	54	144993131	1370891	4336	28287											
PLEC	5339	broad.mit.edu	37	chr8	144996247	144996247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagctcctcctgctgcCgccgctgctgctccagctgc	10	20	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:144996247C>T	uc003zaf.1	-	32	8323	c.8153G>A	c.(8152-8154)CGG>CAG	p.R2718Q	PLEC_uc003zab.1_Missense_Mutation_p.R2581Q|PLEC_uc003zac.1_Missense_Mutation_p.R2585Q|PLEC_uc003zad.2_Missense_Mutation_p.R2581Q|PLEC_uc003zae.1_Missense_Mutation_p.R2549Q|PLEC_uc003zag.1_Missense_Mutation_p.R2559Q|PLEC_uc003zah.2_Missense_Mutation_p.R2567Q|PLEC_uc003zaj.2_Missense_Mutation_p.R2608Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2718	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CTCctgctgccgccgctgctg	0.557													T	144996247	C	T	144996247	3	4	27	1	0	0	0	0	1	0	0	0	12052	652	23	1	5905	1	PLEC	8	144996247	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3116	144996247	1367775	4337	28288											
PLEC	5339	broad.mit.edu	37	chr8	145000981	145000981	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctccatgcgccgcagagtctCgctgatgaacttgatgtact	10	12	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:145000981C>A	uc003zaf.1	-	30	4596	c.4426G>T	c.(4426-4428)GAG>TAG	p.E1476*	PLEC_uc003zab.1_Nonsense_Mutation_p.E1339*|PLEC_uc003zac.1_Nonsense_Mutation_p.E1343*|PLEC_uc003zad.2_Nonsense_Mutation_p.E1339*|PLEC_uc003zae.1_Nonsense_Mutation_p.E1307*|PLEC_uc003zag.1_Nonsense_Mutation_p.E1317*|PLEC_uc003zah.2_Nonsense_Mutation_p.E1325*|PLEC_uc003zaj.2_Nonsense_Mutation_p.E1366*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1476	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CGCAGAGTCTCGCTGATGAAC	0.607													A	145000981	C	A	145000981	4	1	27	1	0	0	0	0	0	1	0	0	12052	893	31	5	9640	5	PLEC	8	145000981	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4734	145000981	1363041	4338	28289											
PLEC	5339	broad.mit.edu	37	chr8	145009229	145009229	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgcggggcatggcgtcatAcagcgacgagacgtaggtga	16	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:145009229A>G	uc003zaf.1	-	8	1356	c.1186T>C	c.(1186-1188)TAT>CAT	p.Y396H	PLEC_uc003zab.1_Missense_Mutation_p.Y259H|PLEC_uc003zac.1_Missense_Mutation_p.Y263H|PLEC_uc003zad.2_Missense_Mutation_p.Y259H|PLEC_uc003zae.1_Missense_Mutation_p.Y227H|PLEC_uc003zag.1_Missense_Mutation_p.Y237H|PLEC_uc003zah.2_Missense_Mutation_p.Y245H|PLEC_uc003zaj.2_Missense_Mutation_p.Y286H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	396	CH 2.|Globular 1.|Actin-binding.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						ATGGCGTCATACAGCGACGAG	0.692													G	145009229	A	G	145009229	3	3	27	1	0	0	0	0	1	0	0	0	12052	391	14	3	12968	3	PLEC	8	145009229	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	8248	145009229	1354793	4339	28290											
PARP10	84875	broad.mit.edu	37	chr8	145059959	145059959	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggctggccaaggcacagcaAggctgtactgggagccccga	16	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:145059959A>C	uc003zal.3	-	3	474	c.366T>G	c.(364-366)CCT>CCG	p.P122P	PARP10_uc003zak.3_5'Flank|PARP10_uc011lku.1_Silent_p.P134P|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Silent_p.P122P|PARP10_uc010mfn.1_Intron|PARP10_uc010mfo.1_Missense_Mutation_p.L15R	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	122						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGCACAGCAAGGCTGTACTG	0.687													C	145059959	A	C	145059959	2	2	27	1	0	0	0	0	0	0	0	1	11455	59	3	5		5	PARP10	8	145059959	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	50730	145059959	1304063	4340	28291											
GPAA1	8733	broad.mit.edu	37	chr8	145140934	145140934	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctagcccagggtgtgctggAgcaccacacctacggcgccc	13	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:145140934A>G	uc003zax.2	+	12	1882	c.1772A>G	c.(1771-1773)GAG>GGG	p.E591G		NM_003801	NP_003792	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment	591	Cytoplasmic (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTGTGCTGGAGCACCACACC	0.642													G	145140934	A	G	145140934	3	3	27	1	0	0	0	0	1	0	0	0	6587	304	11	3	1818	3	GPAA1	8	145140934	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	80975	145140934	1223088	4341	28292											
SHARPIN	81858	broad.mit.edu	37	chr8	145154002	145154002	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggagtggactgggcagGctggaggcagctggctgggg	21	8	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:145154002G>A	uc003zba.2	-	7	1513	c.1029C>T	c.(1027-1029)AGC>AGT	p.S343S	SHARPIN_uc003zbb.2_Intron	NM_030974	NP_112236	Q9H0F6	SHRPN_HUMAN	shank-interacting protein-like 1	343					negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			ovary(1)	1	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GACTGGGCAGGCTGGAGGCAG	0.642													A	145154002	G	A	145154002	2	1	27	1	0	0	0	0	0	0	0	1	14267	1194	42	2		2	SHARPIN	8	145154002	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	13068	145154002	1210020	4342	28293											
MAF1	84232	broad.mit.edu	37	chr8	145161332	145161332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgtggaacgcggtggaCgaggagatctgcctggctga	17	9	1	2	rs145544925		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:145161332C>T	uc003zbc.1	+	5	966	c.465C>T	c.(463-465)GAC>GAT	p.D155D	SHARPIN_uc003zba.2_5'Flank|SHARPIN_uc003zbb.2_5'Flank|KIAA1875_uc003zbd.3_5'Flank|KIAA1875_uc011lky.1_5'Flank	NM_032272	NP_115648	Q9H063	MAF1_HUMAN	MAF1 protein	155					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus					0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACGCGGTGGACGAGGAGATCT	0.592													T	145161332	C	T	145161332	2	4	27	1	0	0	0	0	0	0	0	1	9156	535	19	1		1	MAF1	8	145161332	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	7330	145161332	1202690	4343	28294											
HSF1	3297	broad.mit.edu	37	chr8	145537516	145537516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcctccgcagctgttcaGcccctcggtgaccgtgcccg	10	20	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:145537516G>A	uc003zbt.3	+	11	1426	c.1256G>A	c.(1255-1257)AGC>AAC	p.S419N	HSF1_uc003zbu.3_RNA	NM_005526	NP_005517	Q00613	HSF1_HUMAN	heat shock transcription factor 1	419	Transactivation domain.|9aaTAD.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CAGCTGTTCAGCCCCTCGGTG	0.488													A	145537516	G	A	145537516	3	1	27	1	0	0	0	0	1	0	0	0	7395	971	34	2	1298	2	HSF1	8	145537516	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	376184	145537516	826506	4344	28295											
DGAT1	8694	broad.mit.edu	37	chr8	145542209	145542209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacgtgcagcagcagtccCgcctgctccgtcagggcacc	12	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:145542209C>T	uc003zbv.3	-	6	757	c.489G>A	c.(487-489)GCG>GCA	p.A163A	DGAT1_uc010mfv.2_Silent_p.A163A	NM_012079	NP_036211	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	163	Lumenal (Potential).				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCAGCAGTCCCGCCTGCTCCG	0.657													T	145542209	C	T	145542209	2	4	27	1	0	0	0	0	0	0	0	1	4457	639	23	1		1	DGAT1	8	145542209	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4693	145542209	821813	4345	28296											
SCRT1	83482	broad.mit.edu	37	chr8	145557088	145557088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggtttctcgccggtgtgcGagcgcatgtggccctgcagc	16	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:145557088G>A	uc003zbw.1	-	2	918	c.806C>T	c.(805-807)TCG>TTG	p.S269L		NM_031309	NP_112599	Q9BWW7	SCRT1_HUMAN	scratch	269	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCCGGTGTGCGAGCGCATGTG	0.687													A	145557088	G	A	145557088	3	1	27	1	0	0	0	0	1	0	0	0	13941	1059	37	1	244	1	SCRT1	8	145557088	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	14879	145557088	806934	4346	28297											
GPR172A	79581	broad.mit.edu	37	chr8	145582977	145582977	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcacccacgcccgcccgTccggtgctgacccacctgct	10	21	0	1	rs146942171		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:145582977T>C	uc003zcc.1	+	2	181	c.24T>C	c.(22-24)CGT>CGC	p.R8R	FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_Intron|GPR172A_uc003zcd.1_Silent_p.R8R|GPR172A_uc003zce.1_Silent_p.R8R|GPR172A_uc010mfy.1_Silent_p.R8R|GPR172A_uc003zcf.1_Silent_p.R8R|GPR172A_uc011llc.1_5'UTR	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A precursor	8						integral to plasma membrane	receptor activity|riboflavin transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CGCCCGCCCGTCCGGTGCTGA	0.637													C	145582977	T	C	145582977	2	2	27	1	0	0	0	0	0	0	0	1	6669	1654	58	3		3	GPR172A	8	145582977	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	25889	145582977	781045	4347	28298											
CPSF1	29894	broad.mit.edu	37	chr8	145620666	145620666	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaccttagactccacgtggTaagccacatagtgggccgtg	12	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:145620666T>C	uc003zcj.2	-	27	3155	c.3080A>G	c.(3079-3081)TAC>TGC	p.Y1027C	MIR939_hsa-mir-939|MI0005761_5'Flank|CPSF1_uc011lld.1_RNA	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	1027					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTCCACGTGGTAAGCCACATA	0.637													C	145620666	T	C	145620666	3	2	27	1	0	0	0	0	1	0	0	0	3824	1638	57	3	1299	3	CPSF1	8	145620666	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	37689	145620666	743356	4348	28299											
SLC39A4	55630	broad.mit.edu	37	chr8	145641443	145641443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccctgacccctcaggctcGcccaggcccagggcgtcctc	11	20	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:145641443G>A	uc003zcq.2	-	2	325	c.225C>T	c.(223-225)GGC>GGT	p.G75G	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.2_5'Flank|SLC39A4_uc003zco.2_5'Flank|SLC39A4_uc003zcp.2_Silent_p.G50G	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	75	Extracellular (Potential).					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CCTCAGGCTCGCCCAGGCCCA	0.736													A	145641443	G	A	145641443	2	1	27	1	0	0	0	0	0	0	0	1	14620	1074	38	1		1	SLC39A4	8	145641443	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	20777	145641443	722579	4349	28300											
NFKBIL2	4796	broad.mit.edu	37	chr8	145661146	145661146	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgggccctgcgttaacTggcgcactgcaactctgcat	11	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:145661146T>C	uc011llg.1	-	17	2685	c.2670A>G	c.(2668-2670)CCA>CCG	p.P890P	uc011llh.1_Intron	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	890					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTGCGTTAACTGGCGCACTGC	0.677													C	145661146	T	C	145661146	2	2	27	1	0	0	0	0	0	0	0	1	10382	1567	55	3		3	NFKBIL2	8	145661146	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	19703	145661146	702876	4350	28301											
NFKBIL2	4796	broad.mit.edu	37	chr8	145664103	145664103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccagctgcggggtcaggCcatcggtgtcgtcctctgga	14	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:145664103C>T	uc011llg.1	-	12	1511	c.1496G>A	c.(1495-1497)GGC>GAC	p.G499D	uc011llh.1_RNA	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	499	Glu-rich.				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CGGGGTCAGGCCATCGGTGTC	0.687													T	145664103	C	T	145664103	3	4	27	1	0	0	0	0	1	0	0	0	10382	739	26	2	2700	2	NFKBIL2	8	145664103	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2957	145664103	699919	4351	28302											
NFKBIL2	4796	broad.mit.edu	37	chr8	145665767	145665767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgggcctgctgggcacaGctgagcgctttctggaagca	15	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:145665767G>A	uc011llg.1	-	10	1272	c.1257C>T	c.(1255-1257)AGC>AGT	p.S419S		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	419					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCTGGGCACAGCTGAGCGCTT	0.677													A	145665767	G	A	145665767	2	1	27	1	0	0	0	0	0	0	0	1	10382	962	34	2		2	NFKBIL2	8	145665767	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1664	145665767	698255	4352	28303											
MFSD3	113655	broad.mit.edu	37	chr8	145735993	145735993	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcccaggaaactgctgccTctgttgaggtcggtgctgcg	13	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:145735993T>C	uc003zdi.1	+	3	1008	c.843T>C	c.(841-843)CCT>CCC	p.P281P		NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing	281	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AACTGCTGCCTCTGTTGAGGT	0.637													C	145735993	T	C	145735993	2	2	27	1	0	0	0	0	0	0	0	1	9532	1538	54	3		3	MFSD3	8	145735993	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	70226	145735993	628029	4353	28304											
RECQL4	9401	broad.mit.edu	37	chr8	145741442	145741442	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttcatgttgagccgtAcgtaattgcccctgtcatgg	10	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:145741442A>G	uc003zdj.2	-	5	1093	c.1061T>C	c.(1060-1062)GTA>GCA	p.V354A	LRRC14_uc003zdk.1_5'Flank|LRRC14_uc003zdl.1_5'Flank	NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	354					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTTGAGCCGTACGTAATTGCC	0.637			N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome				G	145741442	A	G	145741442	3	3	27	1	0	0	0	0	1	0	0	0	13202	391	14	3	2634	3	RECQL4	8	145741442	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	5449	145741442	622580	4354	28305											
LRRC14	9684	broad.mit.edu	37	chr8	145745664	145745664	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacatgacgggcctcttggaTgatggtgtggaacaggatcc	15	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:145745664T>C	uc003zdk.1	+	3	518	c.372T>C	c.(370-372)GAT>GAC	p.D124D	RECQL4_uc003zdj.2_5'Flank|LRRC14_uc003zdl.1_Silent_p.D124D|LRRC14_uc003zdo.2_5'Flank	NM_014665	NP_055480	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	124											0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCCTCTTGGATGATGGTGTGG	0.632													C	145745664	T	C	145745664	2	2	27	1	0	0	0	0	0	0	0	1	8968	1461	51	3		3	LRRC14	8	145745664	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4222	145745664	618358	4355	28306											
LRRC14	9684	broad.mit.edu	37	chr8	145745995	145745995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcaacaatctgggcctgCgcggcctgtctgtgatcatc	11	13	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:145745995C>T	uc003zdk.1	+	3	849	c.703C>T	c.(703-705)CGC>TGC	p.R235C	RECQL4_uc003zdj.2_5'Flank|LRRC14_uc003zdl.1_Missense_Mutation_p.R235C|LRRC14_uc003zdo.2_5'Flank	NM_014665	NP_055480	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	235											0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCTGGGCCTGCGCGGCCTGTC	0.652													T	145745995	C	T	145745995	3	4	27	1	0	0	0	0	1	0	0	0	8968	768	27	1	709	1	LRRC14	8	145745995	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	331	145745995	618027	4356	28307											
ZNF251	90987	broad.mit.edu	37	chr8	145947422	145947422	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttaaaggctctgccgtgcttCtctccagtgggaatctgtcc	10	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:145947422C>T	uc003zdv.3	-	5	1879	c.1623G>A	c.(1621-1623)GAG>GAA	p.E541E		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TGCCGTGCTTCTCTCCAGTGG	0.478													T	145947422	C	T	145947422	2	4	27	1	0	0	0	0	0	0	0	1	17793	912	32	4		4	ZNF251	8	145947422	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	201427	145947422	416600	4357	28308											
ZNF34	80778	broad.mit.edu	37	chr8	146003509	146003509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcggccccattcctccCgggagaggtacacagccacg	12	17	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:146003509C>T	uc003zdy.3	-	4	239	c.137G>A	c.(136-138)CGG>CAG	p.R46Q	ZNF34_uc010mgb.2_5'UTR|ZNF34_uc003zdx.3_Missense_Mutation_p.R25Q	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		CCATTCCTCCCGGGAGAGGTA	0.652													T	146003509	C	T	146003509	3	4	27	1	0	0	0	0	1	0	0	0	17853	652	23	1	1557	1	ZNF34	8	146003509	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	56087	146003509	360513	4358	28309											
ZNF34	80778	broad.mit.edu	37	chr8	146003824	146003824	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaggacagacactcacCtggggtggggcagacaggaa	16	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:146003824C>A	uc003zdy.3	-	3	198	c.96G>T	c.(94-96)CAG>CAT	p.Q32H	ZNF34_uc010mgb.2_Translation_Start_Site|ZNF34_uc003zdx.3_Missense_Mutation_p.Q11H	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		AGACACTCACCTGGGGTGGGG	0.567													A	146003824	C	A	146003824	3	1	27	1	0	0	0	0	1	0	0	0	17853	695	24	5	1602	5	ZNF34	8	146003824	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	315	146003824	360198	4359	28310											
RPL8	6132	broad.mit.edu	37	chr8	146016676	146016676	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcaccaaccacagctctgTtggctgaggagataaccttc	8	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:146016676T>C	uc003zeb.2	-	4	596	c.485A>G	c.(484-486)AAC>AGC	p.N162S	RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Missense_Mutation_p.N126S|RPL8_uc003zec.2_Missense_Mutation_p.N162S|RPL8_uc010mgc.2_3'UTR	NM_033301	NP_150644	P62917	RL8_HUMAN	ribosomal protein L8	162					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome				0	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		CACAGCTCTGTTGGCTGAGGA	0.448													C	146016676	T	C	146016676	3	2	27	1	0	0	0	0	1	0	0	0	13602	1725	60	3	300	3	RPL8	8	146016676	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	12852	146016676	347346	4360	28311											
RPL8	6132	broad.mit.edu	37	chr8	146017173	146017173	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaacccttcttgccgcaatAcacaaactggcccgtgtgaa	7	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:146017173A>G	uc003zeb.2	-	3	376	c.265T>C	c.(265-267)TAT>CAT	p.Y89H	RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Missense_Mutation_p.Y53H|RPL8_uc003zec.2_Missense_Mutation_p.Y89H|RPL8_uc010mgc.2_Missense_Mutation_p.Y89H	NM_033301	NP_150644	P62917	RL8_HUMAN	ribosomal protein L8	89					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome				0	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		TTGCCGCAATACACAAACTGG	0.612													G	146017173	A	G	146017173	3	3	27	1	0	0	0	0	1	0	0	0	13602	391	14	3	524	3	RPL8	8	146017173	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	497	146017173	346849	4361	28312											
ZNF16	7564	broad.mit.edu	37	chr8	146156647	146156647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtcgcctgtgtgcacgCcctggtgctgaatgagggct	15	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr8:146156647C>T	uc003zet.2	-	4	1713	c.1526G>A	c.(1525-1527)GGC>GAC	p.G509D	ZNF16_uc003zeu.2_Missense_Mutation_p.G509D	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	509	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TGTGTGCACGCCCTGGTGCTG	0.597													T	146156647	C	T	146156647	3	4	27	1	0	0	0	0	1	0	0	0	17735	739	26	2	526	2	ZNF16	8	146156647	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	139474	146156647	207375	4362	28313											
KANK1	23189	broad.mit.edu	37	chr9	710960	710960	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaagactgaacatccagaAgaggcggaagccgtccgtgc	12	11	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:710960A>C	uc003zgl.1	+	7	843	c.194A>C	c.(193-195)AAG>ACG	p.K65T	KANK1_uc003zgm.2_Missense_Mutation_p.K65T|KANK1_uc003zgn.1_Missense_Mutation_p.K65T|KANK1_uc003zgo.1_Missense_Mutation_p.K65T|KANK1_uc003zgp.1_Missense_Mutation_p.K65T|KANK1_uc003zgq.2_5'UTR|KANK1_uc003zgr.1_5'UTR|KANK1_uc003zgs.1_5'UTR	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	65					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AACATCCAGAAGAGGCGGAAG	0.473													C	710960	A	C	710960	3	2	27	1	0	0	0	0	1	0	0	0	7976	72	3	5	200	5	KANK1	9	710960	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08		710960	140502471	4363	28314											
DMRT3	58524	broad.mit.edu	37	chr9	977247	977247	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcagcaggccaacgagagCttggagagcctcatccccga	13	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:977247C>T	uc003zgw.1	+	1	284	c.246C>T	c.(244-246)AGC>AGT	p.S82S		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	82					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCAACGAGAGCTTGGAGAGCC	0.473													T	977247	C	T	977247	2	4	27	1	0	0	0	0	0	0	0	1	4587	796	28	2		2	DMRT3	9	977247	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	266287	977247	140236184	4364	28315											
DMRT3	58524	broad.mit.edu	37	chr9	990339	990339	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaagccaacagaccgccGcttgaagtgttaaaaaagat	9	8	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:990339G>A	uc003zgw.1	+	2	791	c.753G>A	c.(751-753)CCG>CCA	p.P251P		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	251					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		ACAGACCGCCGCTTGAAGTGT	0.577													A	990339	G	A	990339	2	1	27	1	0	0	0	0	0	0	0	1	4587	1074	38	1		1	DMRT3	9	990339	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	13092	990339	140223092	4365	28316											
DMRT2	10655	broad.mit.edu	37	chr9	1057243	1057243	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtctattcttaagaggccTtcatctgccatcactcgtgt	8	11	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:1057243T>C	uc003zha.2	+	4	1856	c.1656T>C	c.(1654-1656)CCT>CCC	p.P552P	DMRT2_uc003zgx.3_Silent_p.P319P|DMRT2_uc010mgz.2_Silent_p.P319P|DMRT2_uc003zgy.3_Silent_p.P396P|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Silent_p.P552P	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor	552					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TTAAGAGGCCTTCATCTGCCA	0.393													C	1057243	T	C	1057243	2	2	27	1	0	0	0	0	0	0	0	1	4586	1596	56	3		3	DMRT2	9	1057243	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	66904	1057243	140156188	4366	28317											
SMARCA2	6595	broad.mit.edu	37	chr9	2039604	2039604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgatccgcaggccatgaGccagcccaacagaggtccct	12	14	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:2039604G>A	uc003zhc.2	+	4	593	c.494G>A	c.(493-495)AGC>AAC	p.S165N	SMARCA2_uc003zhd.2_Missense_Mutation_p.S165N|SMARCA2_uc010mha.2_Missense_Mutation_p.S156N	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	165					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CAGGCCATGAGCCAGCCCAAC	0.607													A	2039604	G	A	2039604	3	1	27	1	0	0	0	0	1	0	0	0	14769	971	34	2	504	2	SMARCA2	9	2039604	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	982361	2039604	139173827	4367	28318											
SMARCA2	6595	broad.mit.edu	37	chr9	2039854	2039854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgccgcaaccacagacGcagcaacaacagcagccggc	10	18	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:2039854G>A	uc003zhc.2	+	4	843	c.744G>A	c.(742-744)ACG>ACA	p.T248T	SMARCA2_uc003zhd.2_Silent_p.T248T|SMARCA2_uc010mha.2_Silent_p.T239T	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	248	Poly-Gln.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		aaccacagacgcagcaacaac	0.179													A	2039854	G	A	2039854	2	1	27	1	0	0	0	0	0	0	0	1	14769	1074	38	1		1	SMARCA2	9	2039854	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	250	2039854	139173577	4368	28319											
SMARCA2	6595	broad.mit.edu	37	chr9	2170423	2170423	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctactctaccgcaggtgtAacgtggagaaggtgcccagt	12	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:2170423A>G	uc003zhc.2	+	29	4303	c.4204A>G	c.(4204-4206)AAC>GAC	p.N1402D	SMARCA2_uc003zhd.2_Intron|SMARCA2_uc010mha.2_Intron|SMARCA2_uc011llw.1_Intron|SMARCA2_uc003zhf.2_Missense_Mutation_p.N66D|SMARCA2_uc011llx.1_Intron|SMARCA2_uc003zhe.2_Intron|SMARCA2_uc003zhg.2_Intron|SMARCA2_uc010mhb.2_Intron	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1402					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ccgcaGGTGTAACGTGGAGAA	0.234													G	2170423	A	G	2170423	3	3	27	1	0	0	0	0	1	0	0	0	14769	362	13	3	4314	3	SMARCA2	9	2170423	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	130569	2170423	139043008	4369	28320											
VLDLR	7436	broad.mit.edu	37	chr9	2635505	2635505	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcacaaatggtcgctgTattacgctgttgtggaaatg	12	7	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:2635505T>C	uc003zhk.1	+	2	532	c.135T>C	c.(133-135)TGT>TGC	p.C45C	VLDLR_uc003zhl.1_Silent_p.C45C|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Silent_p.C45C	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	45	Extracellular (Potential).|LDL-receptor class A 1.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		ATGGTCGCTGTATTACGCTGT	0.413													C	2635505	T	C	2635505	2	2	27	1	0	0	0	0	0	0	0	1	17171	1644	57	3		3	VLDLR	9	2635505	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	465082	2635505	138577926	4370	28321											
VLDLR	7436	broad.mit.edu	37	chr9	2648781	2648781	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatgatgcccaagacatcaTtgtctatcatgaacttgtac	7	9	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:2648781T>C	uc003zhk.1	+	14	2472	c.2075T>C	c.(2074-2076)ATT>ACT	p.I692T	VLDLR_uc003zhl.1_Missense_Mutation_p.I692T|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Missense_Mutation_p.I651T	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	692	Extracellular (Potential).|LDL-receptor class B 6.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CAAGACATCATTGTCTATCAT	0.443													C	2648781	T	C	2648781	3	2	27	1	0	0	0	0	1	0	0	0	17171	1493	52	3	2129	3	VLDLR	9	2648781	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	13276	2648781	138564650	4371	28322											
KCNV2	169522	broad.mit.edu	37	chr9	2718173	2718173	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgacgactacgaggagcAgacagacgaatacttcttcg	12	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:2718173A>T	uc003zho.1	+	1	648	c.434A>T	c.(433-435)CAG>CTG	p.Q145L		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	145	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		TACGAGGAGCAGACAGACGAA	0.647													T	2718173	A	T	2718173	3	4	27	1	0	0	0	0	1	0	0	0	8095	188	7	5	436	5	KCNV2	9	2718173	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	69392	2718173	138495258	4372	28323											
KCNV2	169522	broad.mit.edu	37	chr9	2718962	2718962	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcacgctgcgccagtgctAccagcaggtgggctgcctgc	13	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:2718962A>G	uc003zho.1	+	1	1437	c.1223A>G	c.(1222-1224)TAC>TGC	p.Y408C		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	408	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		CGCCAGTGCTACCAGCAGGTG	0.622													G	2718962	A	G	2718962	3	3	27	1	0	0	0	0	1	0	0	0	8095	391	14	3	1225	3	KCNV2	9	2718962	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	789	2718962	138494469	4373	28324											
KCNV2	169522	broad.mit.edu	37	chr9	2729454	2729454	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttcctctacaggtgagcatCtccaccgtgggctacggaga	11	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:2729454C>A	uc003zho.1	+	2	1579	c.1365C>A	c.(1363-1365)ATC>ATA	p.I455I		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	455						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		AGGTGAGCATCTCCACCGTGG	0.542													A	2729454	C	A	2729454	2	1	27	1	0	0	0	0	0	0	0	1	8095	903	32	5		5	KCNV2	9	2729454	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	10492	2729454	138483977	4374	28325											
KIAA0020	9933	broad.mit.edu	37	chr9	2838446	2838446	+	Frame_Shift_Del	DEL	T	T	-													cactatttttatgaaatctgTttttttcttgtgctgtcttt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:2838445_2838445GT>G	uc003zhp.1	-	1	159	c.63_63AC>C	c.(61-63)aacfs	p.N21fs	KIAA0020_uc003zhq.1_Frame_Shift_Del_p.N21fs	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	21						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TATGAAATCTGTTTTTTTCTT	0.373													-	2838446	T	-	2838446	7	5	27	1	0	1	0	1	0	0	0	0	8152	1725	60	0	1952	0	KIAA0020	9	2838446	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	108992	2838446	138374985	4375	28326											
GLIS3	169792	broad.mit.edu	37	chr9	3898791	3898791	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagggactgcacggtgagGcaatctgtgagcaggtctgg	17	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:3898791G>A	uc003zhw.1	-	6	1757	c.1563C>T	c.(1561-1563)TGC>TGT	p.C521C	GLIS3_uc003zhx.1_Silent_p.C676C|GLIS3_uc010mhf.1_Silent_p.C70C|GLIS3_uc003zhv.1_RNA|GLIS3_uc003zhy.1_Silent_p.C454C|GLIS3_uc003zhz.1_Silent_p.C454C|C9orf70_uc003zia.2_RNA	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	521					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GCACGGTGAGGCAATCTGTGA	0.582													A	3898791	G	A	3898791	2	1	27	1	0	0	0	0	0	0	0	1	6447	1195	42	2		2	GLIS3	9	3898791	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1060345	3898791	137314640	4376	28327											
GLIS3	169792	broad.mit.edu	37	chr9	4117945	4117945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagctcctcctgctggtcGtacagggcgctgcagtcgat	13	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:4117945G>A	uc003zhw.1	-	3	1262	c.1068C>T	c.(1066-1068)TAC>TAT	p.Y356Y	GLIS3_uc003zhx.1_Silent_p.Y511Y|GLIS3_uc003zic.1_Silent_p.Y511Y|GLIS3_uc003zie.1_Silent_p.Y511Y|GLIS3_uc010mhh.1_Silent_p.Y386Y|GLIS3_uc003zid.1_Silent_p.Y289Y|GLIS3_uc010mhi.1_Silent_p.Y318Y|GLIS3_uc003zif.1_Silent_p.Y289Y|GLIS3_uc003zig.1_Silent_p.Y355Y|GLIS3_uc003zih.1_Silent_p.Y289Y|GLIS3_uc003zhy.1_Silent_p.Y289Y|GLIS3_uc003zhz.1_Silent_p.Y289Y|GLIS3_uc003zib.1_Silent_p.Y355Y|GLIS3_uc010mhg.1_Silent_p.Y289Y	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	356	C2H2-type 1.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CCTGCTGGTCGTACAGGGCGC	0.647													A	4117945	G	A	4117945	2	1	27	1	0	0	0	0	0	0	0	1	6447	1140	40	1		1	GLIS3	9	4117945	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	219154	4117945	137095486	4377	28328											
GLIS3	169792	broad.mit.edu	37	chr9	4285971	4285971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttccataggatttgctggCagaaaatgggatgggggaga	15	4	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:4285971C>T	uc003zii.1	-	2	1168	c.455G>A	c.(454-456)TGC>TAC	p.C152Y	GLIS3_uc003zhx.1_Intron|GLIS3_uc003zic.1_Intron|GLIS3_uc003zie.1_Intron|GLIS3_uc010mhh.1_Intron|GLIS3_uc003zid.1_Intron|GLIS3_uc010mhi.1_Intron|GLIS3_uc003zif.1_Intron|GLIS3_uc003zig.1_Intron|GLIS3_uc003zih.1_Intron			Q8NEA6	GLIS3_HUMAN	SubName: Full=GLIS family zinc finger 3 transcript variant TS2; SubName: Full=GLIS family zinc finger 3 transcript variant TS3; SubName: Full=GLIS family zinc finger 3 transcript variant TS4; SubName: Full=GLIS family zinc finger 3 transcript variant TS5; Flags: Fragment;	Error:Variant_position_missing_in_Q8NEA6_after_alignment					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GATTTGCTGGCAGAAAATGGG	0.398													T	4285971	C	T	4285971	3	4	27	1	0	0	0	0	1	0	0	0	6447	725	25	2		2	GLIS3	9	4285971	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	168026	4285971	136927460	4378	28329											
JAK2	3717	broad.mit.edu	37	chr9	5044429	5044429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcctcgttggtattgcaGtggcagcaacagagcctatc	10	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:5044429G>A	uc010mhm.2	+	4	490	c.377G>A	c.(376-378)AGT>AAT	p.S126N	JAK2_uc003ziw.2_Missense_Mutation_p.S126N	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	126	Interaction with cytokine/interferon/growth hormone receptors (By similarity).|FERM.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TGGTATTGCAGTGGCAGCAAC	0.388		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				A	5044429	G	A	5044429	3	1	27	1	0	0	0	0	1	0	0	0	7938	1029	36	4	387	4	JAK2	9	5044429	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	758458	5044429	136169002	4379	28330											
JAK2	3717	broad.mit.edu	37	chr9	5070030	5070030	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatggtgtttcacaaaaTcagaaatgaagatttgatat	7	5	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:5070030T>A	uc010mhm.2	+	11	1732	c.1619T>A	c.(1618-1620)ATC>AAC	p.I540N	JAK2_uc003ziw.2_Missense_Mutation_p.I540N	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	540					actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	p.I540_E543>MK(7)|p.I540_D544>MK(1)|p.I540I(1)|p.I540_E543>KK(1)|p.I540_N542>S(1)|p.H538_I540>DLS(1)	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TTTCACAAAATCAGAAATGAA	0.333		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				A	5070030	T	A	5070030	3	1	27	1	0	0	0	0	1	0	0	0	7938	1435	50	5	1657	5	JAK2	9	5070030	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	25601	5070030	136143401	4380	28331											
PDCD1LG2	80380	broad.mit.edu	37	chr9	5557640	5557640	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagatggaacccaggacccaTccaacttggctgcttcacat	8	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:5557640T>A	uc003zjg.3	+	5	927	c.654T>A	c.(652-654)CAT>CAA	p.H218Q	C9orf46_uc003zjd.2_Intron|PDCD1LG2_uc011lmc.1_Missense_Mutation_p.H218Q|PDCD1LG2_uc011lmd.1_Missense_Mutation_p.S217T|PDCD1LG2_uc010mhp.1_Missense_Mutation_p.S127T|PDCD1LG2_uc010mho.1_Missense_Mutation_p.H128Q	NM_025239	NP_079515	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2 precursor	218	Extracellular (Potential).				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity				0	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		CCAGGACCCATCCAACTTGGC	0.473													A	5557640	T	A	5557640	3	1	27	1	0	0	0	0	1	0	0	0	11618	1432	50	5	668	5	PDCD1LG2	9	5557640	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	487610	5557640	135655791	4381	28332											
RANBP6	26953	broad.mit.edu	37	chr9	6015260	6015261	+	Frame_Shift_Ins	INS	-	-	T													ctgcaaaaatatcacaaagtINStttttcctcatgctagcatg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:6015259_6015260G>GT	uc003zjr.3	-	0	381_382	c.348_349C>AC	c.(346-351)aaacttfs	p.K116fs	RANBP6_uc011lmf.2_Intron|RANBP6_uc003zjs.3_Intron	NM_012416	NP_036548	O60518	RNBP6_HUMAN	Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.	116					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATATCACAAAGTTTTTTCCTCA	0.411													T	6015261	-	T	6015260	7	5	27	1	0	1	1	0	0	0	0	0	13031	1722	60	0	2973	0	RANBP6	9	6015260	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	457620	6015260	135198171	4382	28333											
KDM4C	23081	broad.mit.edu	37	chr9	7013971	7013971	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacaagtctccttatttccTgtgcaaagtgctgcgtacgg	10	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:7013971T>C	uc003zkh.2	+	14	2732	c.2152T>C	c.(2152-2154)TGT>CGT	p.C718R	KDM4C_uc010mhu.2_Missense_Mutation_p.C740R|KDM4C_uc011lmi.1_Missense_Mutation_p.C718R|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.C718R|KDM4C_uc011lmk.1_Missense_Mutation_p.C463R|KDM4C_uc011lml.1_Missense_Mutation_p.C405R	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	718	PHD-type 1.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1						CCTTATTTCCTGTGCAAAGTG	0.368													C	7013971	T	C	7013971	3	2	27	1	0	0	0	0	1	0	0	0	8130	1580	55	3	2272	3	KDM4C	9	7013971	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	998711	7013971	134199460	4383	28334											
PTPRD	5789	broad.mit.edu	37	chr9	8633320	8633320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacttgagcacttaccccGcaaaactgtgagtctggtgg	10	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:8633320G>A	uc003zkk.2	-	13	1060	c.349C>T	c.(349-351)CGG>TGG	p.R117W	PTPRD_uc003zkp.2_Missense_Mutation_p.R117W|PTPRD_uc003zkq.2_Missense_Mutation_p.R117W|PTPRD_uc003zkr.2_Missense_Mutation_p.R117W|PTPRD_uc003zks.2_Missense_Mutation_p.R117W|PTPRD_uc003zkl.2_Missense_Mutation_p.R117W|PTPRD_uc003zkm.2_Missense_Mutation_p.R117W|PTPRD_uc003zkn.2_Missense_Mutation_p.R117W|PTPRD_uc003zko.2_Missense_Mutation_p.R117W|PTPRD_uc003zkt.1_Missense_Mutation_p.R117W	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	117	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACTTACCCCGCAAAACTGTG	0.418										TSP Lung(15;0.13)			A	8633320	G	A	8633320	3	1	27	1	0	0	0	0	1	0	0	0	12799	1086	38	1	5589	1	PTPRD	9	8633320	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1619349	8633320	132580111	4384	28335											
MPDZ	8777	broad.mit.edu	37	chr9	13107034	13107034	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacagcttcttcatgggtgActccttctagactctgccca	7	14	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:13107034A>G	uc010mhy.2	-	45	6107	c.6056T>C	c.(6055-6057)GTC>GCC	p.V2019A	MPDZ_uc003zkx.3_Missense_Mutation_p.V243A|MPDZ_uc003zky.3_Missense_Mutation_p.V582A|MPDZ_uc010mib.2_Missense_Mutation_p.V753A|MPDZ_uc010mhx.2_Missense_Mutation_p.V870A|MPDZ_uc011lmm.1_Missense_Mutation_p.V907A|MPDZ_uc003zkz.3_Missense_Mutation_p.V741A|MPDZ_uc010mhz.2_Missense_Mutation_p.V2015A|MPDZ_uc011lmn.1_Missense_Mutation_p.V1986A|MPDZ_uc003zlb.3_Missense_Mutation_p.V2019A	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2048	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		TTCATGGGTGACTCCTTCTAG	0.473													G	13107034	A	G	13107034	3	3	27	1	0	0	0	0	1	0	0	0	9722	275	10	3	73	3	MPDZ	9	13107034	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4473714	13107034	128106397	4385	28336											
MPDZ	8777	broad.mit.edu	37	chr9	13168518	13168518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacctccatgaataatgcttCgaacgatcatccccaagcca	5	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:13168518C>T	uc010mia.1	-	21	3158	c.3101G>A	c.(3100-3102)CGA>CAA	p.R1034Q	MPDZ_uc003zkz.3_5'UTR|MPDZ_uc010mhy.2_Missense_Mutation_p.R1034Q|MPDZ_uc010mhz.2_Missense_Mutation_p.R1034Q|MPDZ_uc011lmn.1_Missense_Mutation_p.R1034Q|MPDZ_uc003zlb.3_Missense_Mutation_p.R1034Q	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1034	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		AATAATGCTTCGAACGATCAT	0.363													T	13168518	C	T	13168518	3	4	27	1	0	0	0	0	1	0	0	0	9722	884	31	1	3124	1	MPDZ	9	13168518	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	61484	13168518	128044913	4386	28337											
MPDZ	8777	broad.mit.edu	37	chr9	13247792	13247792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctgctgcatgcagggcccGatttttgtctataccaaaga	9	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:13247792G>A	uc010mia.1	-	2	82	c.25C>T	c.(25-27)CGG>TGG	p.R9W	MPDZ_uc010mhy.2_Missense_Mutation_p.R9W|MPDZ_uc010mhz.2_Missense_Mutation_p.R9W|MPDZ_uc011lmn.1_Missense_Mutation_p.R9W|MPDZ_uc003zlb.3_Missense_Mutation_p.R9W	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	9	L27.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		TGCAGGGCCCGATTTTTGTCT	0.458													A	13247792	G	A	13247792	3	1	27	1	0	0	0	0	1	0	0	0	9722	1057	37	1	6276	1	MPDZ	9	13247792	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	79274	13247792	127965639	4387	28338											
NFIB	4781	broad.mit.edu	37	chr9	14120524	14120524	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtggggaggatatctgAttgttggatgagaaaagtag	16	2	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:14120524A>T	uc003zle.2	-	8	1595	c.1160T>A	c.(1159-1161)ATC>AAC	p.I387N	NFIB_uc003zld.2_Missense_Mutation_p.I135N|NFIB_uc003zlf.2_Missense_Mutation_p.I387N|NFIB_uc011lmo.1_Missense_Mutation_p.I387N	NM_005596	NP_005587	O00712	NFIB_HUMAN	nuclear factor I/B	387					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity				0				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		AGGATATCTGATTGTTGGATG	0.473			T	MYB|HGMA2	adenoid cystic carcinoma|lipoma								T	14120524	A	T	14120524	3	4	27	1	0	0	0	0	1	0	0	0	10371	333	12	5	110	5	NFIB	9	14120524	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	872732	14120524	127092907	4388	28339											
FREM1	158326	broad.mit.edu	37	chr9	14842570	14842570	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaaatatccggaagaccacGaagtctttggtggagtcgct	11	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:14842570G>A	uc003zlm.2	-	9	2072	c.1482C>T	c.(1480-1482)TTC>TTT	p.F494F	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	494	CSPG 2.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		GGAAGACCACGAAGTCTTTGG	0.517													A	14842570	G	A	14842570	2	1	27	1	0	0	0	0	0	0	0	1	6044	1049	37	1		1	FREM1	9	14842570	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	722046	14842570	126370861	4389	28340											
PSIP1	11168	broad.mit.edu	37	chr9	15490125	15490125	+	Splice_Site	DEL	A	A	-													tttggtcctaaaaaagcactAaaaaagaagtggggaagatg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:15490124_15490124TA>T	uc003zlv.4	-	4	480	c.150_splice	c.e4-1	p.T50_splice	PSIP1_uc003zlw.4_Splice_Site_p.T50_splice|PSIP1_uc003zlz.4_Splice_Site_p.T50_splice|PSIP1_uc003zma.4_Splice_Site_p.T50_splice|PSIP1_uc003zly.3_Splice_Site_p.T50_splice	NM_033222	NP_150091	O75475	PSIP1_HUMAN	Homo sapiens PC4 and SFRS1 interacting protein 1 (PSIP1), transcript variant 2, mRNA.	50	PWWP.				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	DNA secondary structure binding|RNA polymerase II transcription coactivator activity|activating transcription factor binding|chromatin binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		AAAAAAGCACTAAAAAAGAAG	0.308													-	15490125	A	-	15490125	8	5	27	1	0	1	0	1	0	0	1	0	12663	377	13	0		0	PSIP1	9	15490125	Splice_Site	DEL	A	TCGA-BR-6452-01A-12D-1800-08	647555	15490125	125723306	4390	28341											
BNC2	54796	broad.mit.edu	37	chr9	16583063	16583063	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacattcacatgtgcagttTaccagtgtgcaacggatggc	10	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:16583063T>C	uc003zml.2	-	4	491	c.351A>G	c.(349-351)GTA>GTG	p.V117V	BNC2_uc011lmw.1_Silent_p.V22V|BNC2_uc003zmm.2_Silent_p.V75V|BNC2_uc003zmq.1_Silent_p.V131V|BNC2_uc003zmr.1_Silent_p.V154V|BNC2_uc003zmp.1_Silent_p.V145V|BNC2_uc010mij.1_Silent_p.V39V|BNC2_uc003zmu.1_RNA|BNC2_uc010mim.1_RNA|BNC2_uc010min.1_RNA|BNC2_uc003zmo.1_Silent_p.V39V|BNC2_uc003zms.1_RNA|BNC2_uc010mik.1_RNA|BNC2_uc010mil.1_RNA|BNC2_uc003zmt.1_RNA	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		ATGTGCAGTTTACCAGTGTGC	0.418													C	16583063	T	C	16583063	2	2	27	1	0	0	0	0	0	0	0	1	1475	1741	61	3		3	BNC2	9	16583063	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1092938	16583063	124630368	4391	28342											
CNTLN	54875	broad.mit.edu	37	chr9	17394904	17394904	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgaaagtgagatctggaCgatatgattgtaagacaact	10	6	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:17394904C>T	uc003zmz.2	+	15	2478	c.2452C>T	c.(2452-2454)CGA>TGA	p.R818*	CNTLN_uc003zmy.2_Nonsense_Mutation_p.R818*|CNTLN_uc010mio.2_Nonsense_Mutation_p.R497*	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	818						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		GAGATCTGGACGATATGATTG	0.418													T	17394904	C	T	17394904	4	4	27	1	0	0	0	0	0	1	0	0	3639	528	19	1	2540	1	CNTLN	9	17394904	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	811841	17394904	123818527	4392	28343											
SH3GL2	6456	broad.mit.edu	37	chr9	17789413	17789413	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catctaaagaagttggagggTcgacgcctggattttgatta	12	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:17789413T>G	uc003zna.2	+	6	777	c.489T>G	c.(487-489)GGT>GGG	p.G163G	SH3GL2_uc011lmx.1_Silent_p.G128G|SH3GL2_uc011lmy.1_Silent_p.G116G	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	163	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			skin(1)	1				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AGTTGGAGGGTCGACGCCTGG	0.428													G	17789413	T	G	17789413	2	3	27	1	0	0	0	0	0	0	0	1	14251	1654	58	5		5	SH3GL2	9	17789413	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	394509	17789413	123424018	4393	28344											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18684731	18684731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagaaacttccagtcgagGccaagttgccatggttcaaa	10	10	1	1	rs149221350	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:18684731G>A	uc003zne.3	+	13	1634	c.1507G>A	c.(1507-1509)GCC>ACC	p.A503T	ADAMTSL1_uc003znc.3_Missense_Mutation_p.A503T	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	503						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		TCCAGTCGAGGCCAAGTTGCC	0.428													A	18684731	G	A	18684731	3	1	27	1	0	0	0	0	1	0	0	0	274	1203	42	2	1557	2	ADAMTSL1	9	18684731	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	895318	18684731	122528700	4394	28345											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18826377	18826377	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgctgctcacaaacgtgTcctcctcggatcagggcctg	10	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:18826377T>C	uc003zne.3	+	22	4157	c.4030T>C	c.(4030-4032)TCC>CCC	p.S1344P	ADAMTSL1_uc003znf.3_Missense_Mutation_p.S45P	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	1344	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		CACAAACGTGTCCTCCTCGGA	0.552													C	18826377	T	C	18826377	3	2	27	1	0	0	0	0	1	0	0	0	274	1667	58	3	4120	3	ADAMTSL1	9	18826377	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	141646	18826377	122387054	4395	28346											
FAM154A	158297	broad.mit.edu	37	chr9	18928404	18928404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagtccagctggggaacGggcttgactggctctgtgcg	17	10	1	1	rs141278609		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:18928404G>A	uc003zni.1	-	4	1349	c.1071C>T	c.(1069-1071)CCC>CCT	p.P357P	FAM154A_uc010mip.1_Silent_p.P165P	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	hypothetical protein LOC158297	357										pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.53e-16)		GCTGGGGAACGGGCTTGACTG	0.577													A	18928404	G	A	18928404	2	1	27	1	0	0	0	0	0	0	0	1	5463	1103	39	1		1	FAM154A	9	18928404	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	102027	18928404	122285027	4396	28347											
FAM154A	158297	broad.mit.edu	37	chr9	18941824	18941824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggtgccactttgtgagGcccaaaatctctcctgtaag	9	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:18941824G>A	uc003zni.1	-	3	510	c.232C>T	c.(232-234)CCT>TCT	p.P78S	FAM154A_uc010mip.1_Intron	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	hypothetical protein LOC158297	78										pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.53e-16)		ACTTTGTGAGGCCCAAAATCT	0.463													A	18941824	G	A	18941824	3	1	27	1	0	0	0	0	1	0	0	0	5463	1203	42	2	1200	2	FAM154A	9	18941824	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	13420	18941824	122271607	4397	28348											
HAUS6	54801	broad.mit.edu	37	chr9	19063047	19063047	+	Frame_Shift_Del	DEL	T	T	-													ctctttttgaaatggatcacTttttttagctggcaaagacc					rs34558496		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:19063046_19063046CT>C	uc003znk.3	-	13	1842	c.1589_1589AG>G	c.(1588-1590)agtfs	p.S530fs	HAUS6_uc011lmz.2_Frame_Shift_Del_p.S250fs|HAUS6_uc022bdv.1_Frame_Shift_Del_p.S394fs|HAUS6_uc003znl.1_Frame_Shift_Del_p.S394fs|HAUS6_uc003znm.1_Frame_Shift_Del_p.S285fs	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA.	530					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAATGGATCACTTTTTTTAGC	0.373													-	19063047	T	-	19063047	7	5	27	1	0	1	0	1	0	0	0	0	6970	1609	56	0	1295	0	HAUS6	9	19063047	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	121223	19063047	122150384	4398	28349											
DENND4C	55667	broad.mit.edu	37	chr9	19296164	19296164	+	Frame_Shift_Del	DEL	T	T	-													tgtttactctcacactggccTttttttgaagcttttaggaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:19296163_19296163CT>C	uc003znq.3	+	1	331	c.251_251CT>C	c.(250-252)cctfs	p.P84fs	DENND4C_uc011lnc.2_5'UTR	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	84	DENN.					integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCACACTGGCCTTTTTTTGAA	0.368													-	19296164	T	-	19296164	7	5	27	1	0	1	0	1	0	0	0	0	4435	1596	56	0	258	0	DENND4C	9	19296164	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	233117	19296164	121917267	4399	28350											
SLC24A2	25769	broad.mit.edu	37	chr9	19786630	19786630	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctctgatggtaaccctgtgCtaccctagggccacttacaa	8	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:19786630C>A	uc003zoa.1	-	1	297	c.235G>T	c.(235-237)GCA>TCA	p.A79S	SLC24A2_uc003zob.1_Missense_Mutation_p.A79S	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	79	Extracellular (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TAACCCTGTGCTACCCTAGGG	0.453													A	19786630	C	A	19786630	3	1	27	1	0	0	0	0	1	0	0	0	14466	797	28	5	1790	5	SLC24A2	9	19786630	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	490466	19786630	121426801	4400	28351											
KIAA1797	54914	broad.mit.edu	37	chr9	20881935	20881935	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atatgcctcgtgggatatatCactctgcattaaaaggaggt	10	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:20881935C>T	uc003zog.1	+	22	2746	c.2383C>T	c.(2383-2385)CAC>TAC	p.H795Y	KIAA1797_uc003zoh.1_Missense_Mutation_p.H231Y	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	795						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		TGGGATATATCACTCTGCATT	0.393													T	20881935	C	T	20881935	3	4	27	1	0	0	0	0	1	0	0	0	8258	826	29	4	2457	4	KIAA1797	9	20881935	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1095305	20881935	120331496	4401	28352											
KLHL9	55958	broad.mit.edu	37	chr9	21333123	21333123	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccaagtgactctggaagaTcaaaaactttatgccactca	6	11	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:21333123T>A	uc003zoy.2	-	1	2307	c.1736A>T	c.(1735-1737)GAT>GTT	p.D579V	KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	kelch-like 9	579	Kelch 6.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				ovary(3)|skin(1)	4				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		CTCTGGAAGATCAAAAACTTT	0.403													A	21333123	T	A	21333123	3	1	27	1	0	0	0	0	1	0	0	0	8396	1435	50	5	121	5	KLHL9	9	21333123	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	451188	21333123	119880308	4402	28353											
IFNA8	3445	broad.mit.edu	37	chr9	21409397	21409397	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gataaacagttccagaaggcTcaagccatctctgtcctcca	7	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:21409397T>A	uc003zpc.1	+	1	252	c.222T>A	c.(220-222)GCT>GCA	p.A74A		NM_002170	NP_002161	P32881	IFNA8_HUMAN	interferon, alpha 8 precursor	74					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		TCCAGAAGGCTCAAGCCATCT	0.473													A	21409397	T	A	21409397	2	1	27	1	0	0	0	0	0	0	0	1	7543	1538	54	5		5	IFNA8	9	21409397	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	76274	21409397	119804034	4403	28354											
IFNE	338376	broad.mit.edu	37	chr9	21481336	21481336	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtcccatgagtgcttctaGgtattctagctgttgatgaa	10	8	2	3	rs143925423		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:21481336G>T	uc003zpg.2	-	1	977	c.358C>A	c.(358-360)CTA>ATA	p.L120I	LOC554202_uc003zpe.2_Intron|LOC554202_uc003zpf.2_Intron	NM_176891	NP_795372	Q86WN2	IFNE_HUMAN	interferon, epsilon precursor	120					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding				0						AGTGCTTCTAGGTATTCTAGC	0.428													T	21481336	G	T	21481336	3	4	27	1	0	0	0	0	1	0	0	0	7547	991	35	5	272	5	IFNE	9	21481336	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	71939	21481336	119732095	4404	28355											
MTAP	4507	broad.mit.edu	37	chr9	21816750	21816750	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggggaagataaaaaatgTtgattgcgtcctccttgcaa	10	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:21816750T>C	uc003zph.2	+	3	271	c.158T>C	c.(157-159)GTT>GCT	p.V53A	MTAP_uc003zpi.1_Missense_Mutation_p.V53A|MTAP_uc010mit.2_RNA|MTAP_uc011lnk.1_Missense_Mutation_p.V70A|MTAP_uc011lnl.1_5'Flank	NM_002451	NP_002442	Q13126	MTAP_HUMAN	5'-methylthioadenosine phosphorylase	53					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity			central_nervous_system(1)	1		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	ATAAAAAATGTTGATTGCGTC	0.294													C	21816750	T	C	21816750	3	2	27	1	0	0	0	0	1	0	0	0	9911	1725	60	3	168	3	MTAP	9	21816750	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	335414	21816750	119396681	4405	28356											
DMRTA1	63951	broad.mit.edu	37	chr9	22447088	22447088	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagcggtcacagtgtggcagCagagaccgaggcgttagcgg	18	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:22447088C>G	uc003zpp.1	+	1	249	c.24C>G	c.(22-24)AGC>AGG	p.S8R		NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	8					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|skin(1)	2		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		AGTGTGGCAGCAGAGACCGAG	0.667													G	22447088	C	G	22447088	3	3	27	1	0	0	0	0	1	0	0	0	4588	709	25	5	26	5	DMRTA1	9	22447088	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	630338	22447088	118766343	4406	28357											
C9orf82	79886	broad.mit.edu	37	chr9	26842414	26842414	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgaacatcttctggtggaGgaacagccagggtggctgct	15	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:26842414G>T	uc003zqc.2	-	6	983	c.971C>A	c.(970-972)CCT>CAT	p.P324H	C9orf82_uc003zqb.2_Missense_Mutation_p.P179H	NM_024828	NP_079104	Q9H8G2	CI082_HUMAN	hypothetical protein LOC79886	324											0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(42;1.39e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TTCTGGTGGAGGAACAGCCAG	0.473													T	26842414	G	T	26842414	3	4	27	1	0	0	0	0	1	0	0	0	2499	1000	35	5	118	5	C9orf82	9	26842414	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4395326	26842414	114371017	4407	28358											
PLAA	9373	broad.mit.edu	37	chr9	26919405	26919405	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acttgatccagaaacataggAttcaaatcattcttctgtaa	5	8	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:26919405A>T	uc003zqd.2	-	9	1745	c.1320T>A	c.(1318-1320)AAT>AAA	p.N440K	PLAA_uc003zqe.2_Missense_Mutation_p.N440K	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	440	PFU.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity				0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		GAAACATAGGATTCAAATCAT	0.353													T	26919405	A	T	26919405	3	4	27	1	0	0	0	0	1	0	0	0	12011	330	12	5	1091	5	PLAA	9	26919405	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	76991	26919405	114294026	4408	28359											
PLAA	9373	broad.mit.edu	37	chr9	26935065	26935065	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattggactgtccagtgagaAaatgcatatattgtggtcat	10	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:26935065A>G	uc003zqd.2	-	2	714	c.289T>C	c.(289-291)TTC>CTC	p.F97L	PLAA_uc003zqe.2_Missense_Mutation_p.F97L	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	97	WD 2.			F -> L (in Ref. 5; AAD42075).	phospholipid metabolic process|signal transduction		phospholipase A2 activator activity				0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TCCAGTGAGAAAATGCATATA	0.378													G	26935065	A	G	26935065	3	3	27	1	0	0	0	0	1	0	0	0	12011	14	1	3	2150	3	PLAA	9	26935065	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	15660	26935065	114278366	4409	28360											
LRRC19	64922	broad.mit.edu	37	chr9	26997993	26997993	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccctgttgaattacatAgatggagtttctacagatat	8	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:26997993A>G	uc003zqh.2	-	3	439	c.328T>C	c.(328-330)TAT>CAT	p.Y110H	IFT74_uc010mja.2_Intron|IFT74_uc010mjb.2_Intron|IFT74_uc003zqf.3_Intron|IFT74_uc003zqg.3_Intron	NM_022901	NP_075052	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19 precursor	110	LRR 3.|Extracellular (Potential).					integral to membrane					0		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		TGAATTACATAGATGGAGTTT	0.323													G	26997993	A	G	26997993	3	3	27	1	0	0	0	0	1	0	0	0	8975	420	15	3	796	3	LRRC19	9	26997993	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	62928	26997993	114215438	4410	28361											
MOBKL2B	79817	broad.mit.edu	37	chr9	27455355	27455355	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatccgattgaagaagtccAccacatgtactgccacccag	8	13	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:27455355A>G	uc003zqn.2	-	2	690	c.194T>C	c.(193-195)GTG>GCG	p.V65A		NM_024761	NP_079037	Q86TA1	MOL2B_HUMAN	MOB1, Mps One Binder kinase activator-like 2B	65							metal ion binding|protein binding			ovary(1)|pleura(1)	2		all_neural(11;9.12e-11)		Lung(218;6.54e-05)|LUSC - Lung squamous cell carcinoma(38;0.000397)		GAAGAAGTCCACCACATGTAC	0.562													G	27455355	A	G	27455355	3	3	27	1	0	0	0	0	1	0	0	0	9685	159	6	3	468	3	MOBKL2B	9	27455355	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	457362	27455355	113758076	4411	28362											
ACO1	48	broad.mit.edu	37	chr9	32418352	32418352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaggcttttcacaacatGcggattattccccctggctc	7	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:32418352G>A	uc003zqw.3	+	6	656	c.501G>A	c.(499-501)ATG>ATA	p.M167I	ACO1_uc010mjh.1_Missense_Mutation_p.M1I|ACO1_uc003zqx.3_Missense_Mutation_p.M167I|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	167					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TTCACAACATGCGGATTATTC	0.463													A	32418352	G	A	32418352	3	1	27	1	0	0	0	0	1	0	0	0	146	1319	46	2	519	2	ACO1	9	32418352	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4962997	32418352	108795079	4412	28363											
ACO1	48	broad.mit.edu	37	chr9	32434640	32434640	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcggtaacaactgaccacatCtccccagctggaaatattgc	7	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:32434640C>T	uc003zqw.3	+	17	2195	c.2040C>T	c.(2038-2040)ATC>ATT	p.I680I	ACO1_uc010mjh.1_Silent_p.I514I|ACO1_uc003zqx.3_Silent_p.I680I|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	680					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CTGACCACATCTCCCCAGCTG	0.433													T	32434640	C	T	32434640	2	4	27	1	0	0	0	0	0	0	0	1	146	903	32	4		4	ACO1	9	32434640	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	16288	32434640	108778791	4413	28364											
DDX58	23586	broad.mit.edu	37	chr9	32500831	32500831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctagggcatccaaaaagccAcggaaccagccttcctcctg	8	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:32500831A>G	uc003zra.2	-	2	371	c.213T>C	c.(211-213)CGT>CGC	p.R71R	DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Intron|DDX58_uc011lnr.1_5'UTR|DDX58_uc010mji.2_5'UTR	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	71	CARD 1.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CCAAAAAGCCACGGAACCAGC	0.433													G	32500831	A	G	32500831	2	3	27	1	0	0	0	0	0	0	0	1	4375	146	6	3		3	DDX58	9	32500831	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	66191	32500831	108712600	4414	28365											
TAF1L	138474	broad.mit.edu	37	chr9	32630784	32630784	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtccattatacttaacActgttggcaagaataaggtt	8	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:32630784A>G	uc003zrg.1	-	1	4884	c.4794T>C	c.(4792-4794)AGT>AGC	p.S1598S	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1598	Bromo 2.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TATACTTAACACTGTTGGCAA	0.403													G	32630784	A	G	32630784	2	3	27	1	0	0	0	0	0	0	0	1	15520	156	6	3		3	TAF1L	9	32630784	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	129953	32630784	108582647	4415	28366											
TAF1L	138474	broad.mit.edu	37	chr9	32633593	32633593	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttggccttttttttgAtgtgctttagcaaaggttgg	10	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:32633593A>T	uc003zrg.1	-	1	2075	c.1985T>A	c.(1984-1986)ATC>AAC	p.I662N	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	662					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTTTTTTTTGATGTGCTTTAG	0.478													T	32633593	A	T	32633593	3	4	27	1	0	0	0	0	1	0	0	0	15520	333	12	5	3499	5	TAF1L	9	32633593	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2809	32633593	108579838	4416	28367											
TAF1L	138474	broad.mit.edu	37	chr9	32634929	32634929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagattctgcctgtgttgCttcctgaggtcccatctcag	9	13	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:32634929C>T	uc003zrg.1	-	1	739	c.649G>A	c.(649-651)GCA>ACA	p.A217T	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	217					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCCTGTGTTGCTTCCTGAGGT	0.483													T	32634929	C	T	32634929	3	4	27	1	0	0	0	0	1	0	0	0	15520	797	28	2	4835	2	TAF1L	9	32634929	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1336	32634929	108578502	4417	28368											
CHMP5	51510	broad.mit.edu	37	chr9	33271164	33271164	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttaggttgatgctatgaaActgggagtaaaggaaatgaa	12	3	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:33271164A>G	uc003zsl.3	+	6	685	c.330A>G	c.(328-330)AAA>AAG	p.K110K	SUGT1P1_uc010mjq.1_Intron|CHMP5_uc003zsm.3_Silent_p.K110K|CHMP5_uc011lnv.1_Silent_p.K110K|CHMP5_uc003zsn.2_RNA	NM_016410	NP_057494	Q9NZZ3	CHMP5_HUMAN	chromatin modifying protein 5	110	Potential.				cellular membrane organization|protein transport	cytosol|endosome membrane	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			ATGCTATGAAACTGGGAGTAA	0.318													G	33271164	A	G	33271164	2	3	27	1	0	0	0	0	0	0	0	1	3359	40	2	3		3	CHMP5	9	33271164	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	636235	33271164	107942267	4418	28369											
AQP7	364	broad.mit.edu	37	chr9	33386120	33386120	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatgtgatcaggaaggtaGgtggcaaaaatgccagctgt	14	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:33386120G>A	uc003zst.2	-	6	652	c.480C>T	c.(478-480)ACC>ACT	p.T160T	SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Silent_p.T103T|AQP7_uc010mjs.2_Silent_p.T68T|AQP7_uc010mjt.2_Silent_p.T68T|AQP7_uc011lnx.1_Silent_p.T160T|AQP7_uc011lny.1_Silent_p.T159T|AQP7_uc003zss.3_Silent_p.T68T|AQP7_uc011lnz.1_Silent_p.T68T|AQP7_uc011loa.1_Intron	NM_001170	NP_001161	O14520	AQP7_HUMAN	aquaporin 7	160	Extracellular (Potential).				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity				0			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CAGGAAGGTAGGTGGCAAAAA	0.587													A	33386120	G	A	33386120	2	1	27	1	0	0	0	0	0	0	0	1	831	987	35	4		4	AQP7	9	33386120	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	114956	33386120	107827311	4419	28370											
NOL6	65083	broad.mit.edu	37	chr9	33463366	33463366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcgagtccacagcctggCggtgccgcgggatatggcga	17	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:33463366C>T	uc003zsz.2	-	24	3169	c.3068G>A	c.(3067-3069)CGC>CAC	p.R1023H	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_Missense_Mutation_p.R77H|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Missense_Mutation_p.R1020H|NOL6_uc011lob.1_Missense_Mutation_p.R971H|NOL6_uc003ztb.1_Intron	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	1023					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CACAGCCTGGCGGTGCCGCGG	0.652													T	33463366	C	T	33463366	3	4	27	1	0	0	0	0	1	0	0	0	10525	768	27	1	384	1	NOL6	9	33463366	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	77246	33463366	107750065	4420	28371											
NOL6	65083	broad.mit.edu	37	chr9	33468037	33468037	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctaaactcactgcaggacaTggtcaaaagcccggatcatg	9	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:33468037T>C	uc003zsz.2	-	11	1516	c.1415A>G	c.(1414-1416)CAT>CGT	p.H472R	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Missense_Mutation_p.H472R|NOL6_uc010mjv.2_Missense_Mutation_p.H469R|NOL6_uc011lob.1_Missense_Mutation_p.H420R|NOL6_uc003ztb.1_Missense_Mutation_p.H472R	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	472					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CTGCAGGACATGGTCAAAAGC	0.562													C	33468037	T	C	33468037	3	2	27	1	0	0	0	0	1	0	0	0	10525	1464	51	3	2089	3	NOL6	9	33468037	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4671	33468037	107745394	4421	28372											
UBAP2	55833	broad.mit.edu	37	chr9	33973225	33973225	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcccctctccctctgccAcgtccaaatcctttaaaaaa	3	18	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:33973225A>G	uc003ztq.1	-	7	644	c.531T>C	c.(529-531)CGT>CGC	p.R177R	UBAP2_uc011loc.1_Intron|UBAP2_uc011lod.1_Intron|UBAP2_uc011loe.1_Intron|UBAP2_uc011lof.1_Silent_p.R102R|UBAP2_uc011log.1_Intron|UBAP2_uc003ztr.2_Intron	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	177										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCCCTCTGCCACGTCCAAATC	0.378													G	33973225	A	G	33973225	2	3	27	1	0	0	0	0	0	0	0	1	16834	146	6	3		3	UBAP2	9	33973225	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	505188	33973225	107240206	4422	28373											
KIF24	347240	broad.mit.edu	37	chr9	34256008	34256008	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgtaggtccagaatggggTacccccatatgtatggtggt	14	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:34256008T>C	uc003zua.3	-	11	3717	c.3597A>G	c.(3595-3597)GTA>GTG	p.V1199V	KIF24_uc010mkb.2_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1199					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)			CAGAATGGGGTACCCCCATAT	0.557													C	34256008	T	C	34256008	2	2	27	1	0	0	0	0	0	0	0	1	8292	1625	57	3		3	KIF24	9	34256008	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	282783	34256008	106957423	4423	28374											
NUDT2	318	broad.mit.edu	37	chr9	34343290	34343290	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttactggctggcggaggtgaAggactatgacgtggagatcc	16	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:34343290A>G	uc003zub.2	+	5	654	c.296A>G	c.(295-297)AAG>AGG	p.K99R	NUDT2_uc003zuc.2_Missense_Mutation_p.K99R|NUDT2_uc003zud.2_Missense_Mutation_p.K99R	NM_001161	NP_001152	P50583	AP4A_HUMAN	nudix-type motif 2	99	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding				0			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GCGGAGGTGAAGGACTATGAC	0.547													G	34343290	A	G	34343290	3	3	27	1	0	0	0	0	1	0	0	0	10737	72	3	3	302	3	NUDT2	9	34343290	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	87282	34343290	106870141	4424	28375											
KIAA1161	57462	broad.mit.edu	37	chr9	34372048	34372048	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacggcttgttgaagtagcgAcgcaccatgtacttgtggat	13	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:34372048A>G	uc003zue.3	-	3	1061	c.894T>C	c.(892-894)CGT>CGC	p.R298R		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	298	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TGAAGTAGCGACGCACCATGT	0.662													G	34372048	A	G	34372048	2	3	27	1	0	0	0	0	0	0	0	1	8211	262	10	3		3	KIAA1161	9	34372048	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	28758	34372048	106841383	4425	28376											
GALT	2592	broad.mit.edu	37	chr9	34646774	34646774	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgccgcagcagcaaccttcCgggcaaacggtaactgcacc	10	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:34646774C>A	uc003zve.2	+	1	140	c.73C>A	c.(73-75)CGG>AGG	p.R25R	GALT_uc003zvf.2_5'UTR|GALT_uc003zvg.2_5'UTR|GALT_uc003zvh.2_5'UTR|GALT_uc011lop.1_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	25					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding				0	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		AGCAACCTTCCGGGCAAACGG	0.662									Galactosemia		OREG0019158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	34646774	C	A	34646774	2	1	27	1	0	0	0	0	0	0	0	1	6230	643	23	5		5	GALT	9	34646774	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	274726	34646774	106566657	4426	28377											
GALT	2592	broad.mit.edu	37	chr9	34648762	34648762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattctgtcttcctaggaaCgtctggtcctaaccagtgag	9	12	3	1	rs111033749		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:34648762C>T	uc003zve.2	+	8	758	c.691C>T	c.(691-693)CGT>TGT	p.R231C	GALT_uc003zvf.2_Missense_Mutation_p.R122C|GALT_uc003zvg.2_Missense_Mutation_p.R103C|GALT_uc003zvh.2_Missense_Mutation_p.R183C|GALT_uc011lop.1_Missense_Mutation_p.R183C|IL11RA_uc003zvi.2_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	231			R -> H (in GALCT; 15% of normal activity).		galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding				0	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TTCCTAGGAACGTCTGGTCCT	0.522									Galactosemia				T	34648762	C	T	34648762	3	4	27	1	0	0	0	0	1	0	0	0	6230	536	19	1	721	1	GALT	9	34648762	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1988	34648762	106564669	4427	28378											
KIAA1045	23349	broad.mit.edu	37	chr9	34971621	34971621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgttcatccgccccacccGgaagctggatgatgacaaac	10	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:34971621G>A	uc003zvq.2	+	2	504	c.326G>A	c.(325-327)CGG>CAG	p.R109Q	KIAA1045_uc003zvr.2_Missense_Mutation_p.R109Q	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	109							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)			CGCCCCACCCGGAAGCTGGAT	0.597													A	34971621	G	A	34971621	3	1	27	1	0	0	0	0	1	0	0	0	8207	1116	39	1	328	1	KIAA1045	9	34971621	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	322859	34971621	106241810	4428	28379											
KIAA1045	23349	broad.mit.edu	37	chr9	34972347	34972347	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgccatctttctgcaggttgTcaacgatgagatgtgtgatg	12	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:34972347T>A	uc003zvq.2	+	3	561	c.383T>A	c.(382-384)GTC>GAC	p.V128D	KIAA1045_uc003zvr.2_Missense_Mutation_p.V128D	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	128							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)			CTGCAGGTTGTCAACGATGAG	0.547													A	34972347	T	A	34972347	3	1	27	1	0	0	0	0	1	0	0	0	8207	1667	58	5	389	5	KIAA1045	9	34972347	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	726	34972347	106241084	4429	28380											
KIAA1045	23349	broad.mit.edu	37	chr9	34978047	34978047	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taccttcctgcaagagaatgTcctctacatcctggctgctc	7	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:34978047T>A	uc003zvq.2	+	8	1320	c.1142T>A	c.(1141-1143)GTC>GAC	p.V381D	KIAA1045_uc003zvr.2_Missense_Mutation_p.V381D	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	381							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)			CAAGAGAATGTCCTCTACATC	0.557													A	34978047	T	A	34978047	3	1	27	1	0	0	0	0	1	0	0	0	8207	1667	58	5	1168	5	KIAA1045	9	34978047	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	5700	34978047	106235384	4430	28381											
C9orf131	138724	broad.mit.edu	37	chr9	35043238	35043238	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctcccctctctgcacagCgagtccttggaggccatctt	10	15	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:35043238C>T	uc003zvw.2	+	2	641	c.612C>T	c.(610-612)AGC>AGT	p.S204S	C9orf131_uc003zvu.2_Silent_p.S156S|C9orf131_uc003zvv.2_Silent_p.S131S|C9orf131_uc003zvx.2_Silent_p.S169S	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	hypothetical protein LOC138724 isoform A	204											0	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCTGCACAGCGAGTCCTTGG	0.537													T	35043238	C	T	35043238	2	4	27	1	0	0	0	0	0	0	0	1	2457	767	27	1		1	C9orf131	9	35043238	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	65191	35043238	106170193	4431	28382											
C9orf131	138724	broad.mit.edu	37	chr9	35043650	35043650	+	Frame_Shift_Del	DEL	C	C	-													cttttgagcctccgatgccaCccccctgccaatccccagct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:35043649_35043649AC>A	uc003zvw.3	+	1	1052	c.1023_1023AC>A	c.(1021-1023)ccafs	p.P341fs	C9orf131_uc003zvu.3_Frame_Shift_Del_p.P293fs|C9orf131_uc003zvv.3_Frame_Shift_Del_p.P268fs|C9orf131_uc003zvx.3_Frame_Shift_Del_p.P306fs	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	341										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCCGATGCCACCCCCCTGCC	0.527													-	35043650	C	-	35043650	7	5	27	1	0	1	0	1	0	0	0	0	2457	507	18	0	1046	0	C9orf131	9	35043650	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	412	35043650	106169781	4432	28383											
FANCG	2189	broad.mit.edu	37	chr9	35078616	35078616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcacctctctctaggctcCgctggatatcctgggcctga	9	16	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:35078616C>T	uc003zwb.1	-	3	785	c.293G>A	c.(292-294)CGG>CAG	p.R98Q	FANCG_uc003zwa.1_5'Flank|FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Missense_Mutation_p.R98Q	NM_004629	NP_004620	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	98					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|large_intestine(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTCTAGGCTCCGCTGGATATC	0.527			Mis|N|F|S			AML|leukemia		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				T	35078616	C	T	35078616	3	4	27	1	0	0	0	0	1	0	0	0	5668	652	23	1	1623	1	FANCG	9	35078616	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	34966	35078616	106134815	4433	28384											
PIGO	84720	broad.mit.edu	37	chr9	35091255	35091255	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accaggggtggtgacgggtaTcccagcagcaagcagatgta	15	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:35091255T>A	uc003zwd.2	-	7	3025	c.2629A>T	c.(2629-2631)ATA>TTA	p.I877L	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Missense_Mutation_p.I460L|PIGO_uc003zwf.2_Missense_Mutation_p.I460L|PIGO_uc003zwg.1_Missense_Mutation_p.I440L	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	877	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTGACGGGTATCCCAGCAGCA	0.512													A	35091255	T	A	35091255	3	1	27	1	0	0	0	0	1	0	0	0	11894	1435	50	5	660	5	PIGO	9	35091255	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	12639	35091255	106122176	4434	28385											
PIGO	84720	broad.mit.edu	37	chr9	35091523	35091523	+	Frame_Shift_Del	DEL	G	G	-													tccaagtcagcttgagaagtGggggggcctgagaagggagt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:35091522_35091522TG>T	uc003zwd.3	-	6	2758	c.2362_2362CA>A	c.(2362-2364)actfs	p.T788fs	PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Frame_Shift_Del_p.T351fs	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	788					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.T788fs*5(2)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCT	0.602													-	35091523	G	-	35091523	7	5	27	1	0	1	0	1	0	0	0	0	11894	1335	47	0	928	0	PIGO	9	35091523	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	268	35091523	106121908	4435	28386											
KIAA1539	80256	broad.mit.edu	37	chr9	35107420	35107420	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcaggtggctccagaaGggtgtggctttggcatcaga	17	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:35107420G>T	uc003zwl.2	-	3	1177	c.852C>A	c.(850-852)CCC>CCA	p.P284P	KIAA1539_uc003zwm.2_Silent_p.P284P|KIAA1539_uc003zwn.2_5'UTR|KIAA1539_uc003zwo.2_Silent_p.P284P|KIAA1539_uc003zwp.1_Silent_p.P284P|KIAA1539_uc010mkk.1_RNA	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	284						nucleus				ovary(2)	2	all_epithelial(49;0.217)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGCTCCAGAAGGGTGTGGCTT	0.507													T	35107420	G	T	35107420	2	4	27	1	0	0	0	0	0	0	0	1	8242	987	35	5		5	KIAA1539	9	35107420	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	15897	35107420	106106011	4436	28387											
KIAA1539	80256	broad.mit.edu	37	chr9	35107652	35107652	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taggccagaggctacccccaTtgcccaccccagccactggg	10	18	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:35107652T>A	uc003zwl.2	-	3	945	c.620A>T	c.(619-621)AAT>ATT	p.N207I	KIAA1539_uc003zwm.2_Missense_Mutation_p.N207I|KIAA1539_uc003zwn.2_Intron|KIAA1539_uc003zwo.2_Missense_Mutation_p.N207I|KIAA1539_uc003zwp.1_Missense_Mutation_p.N207I|KIAA1539_uc010mkk.1_Intron	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	207						nucleus				ovary(2)	2	all_epithelial(49;0.217)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTACCCCCATTGCCCACCCC	0.662													A	35107652	T	A	35107652	3	1	27	1	0	0	0	0	1	0	0	0	8242	1493	52	5	1024	5	KIAA1539	9	35107652	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	232	35107652	106105779	4437	28388											
UNC13B	10497	broad.mit.edu	37	chr9	35380473	35380473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taattctctcacagtgagtgCcacaactcctctgaccgcat	6	14	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:35380473C>T	uc003zwq.2	+	17	2257	c.1965C>T	c.(1963-1965)TGC>TGT	p.C655C	UNC13B_uc003zwr.2_Silent_p.C655C	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	655	C2 2.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ACAGTGAGTGCCACAACTCCT	0.502													T	35380473	C	T	35380473	2	4	27	1	0	0	0	0	0	0	0	1	16982	747	26	2		2	UNC13B	9	35380473	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	272821	35380473	105832958	4438	28389											
UNC13B	10497	broad.mit.edu	37	chr9	35382434	35382434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttactggccaacatcaacgCctactatgcccacacaactg	5	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:35382434C>T	uc003zwq.2	+	20	2781	c.2489C>T	c.(2488-2490)GCC>GTC	p.A830V	UNC13B_uc003zwr.2_Missense_Mutation_p.A830V	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	830					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AACATCAACGCCTACTATGCC	0.483													T	35382434	C	T	35382434	3	4	27	1	0	0	0	0	1	0	0	0	16982	739	26	2	2567	2	UNC13B	9	35382434	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1961	35382434	105830997	4439	28390											
RUSC2	9853	broad.mit.edu	37	chr9	35547295	35547295	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagcacatccagtcagtcCgaggcagctgaccagtccat	10	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:35547295C>T	uc003zww.2	+	2	1032	c.777C>T	c.(775-777)TCC>TCT	p.S259S	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Silent_p.S259S	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	259						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCAGTCAGTCCGAGGCAGCTG	0.567													T	35547295	C	T	35547295	2	4	27	1	0	0	0	0	0	0	0	1	13751	639	23	1		1	RUSC2	9	35547295	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	164861	35547295	105666136	4440	28391											
RUSC2	9853	broad.mit.edu	37	chr9	35547634	35547634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccgcccacactgtgagccGtgcccagcagtggctgacct	11	16	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:35547634G>A	uc003zww.2	+	2	1371	c.1116G>A	c.(1114-1116)CCG>CCA	p.P372P	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Silent_p.P372P	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	372						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ACTGTGAGCCGTGCCCAGCAG	0.547													A	35547634	G	A	35547634	2	1	27	1	0	0	0	0	0	0	0	1	13751	1132	40	1		1	RUSC2	9	35547634	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	339	35547634	105665797	4441	28392											
RUSC2	9853	broad.mit.edu	37	chr9	35561189	35561189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccccagtgaggtgcaggCactgtgccaccacctggcca	11	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:35561189C>T	uc003zww.2	+	12	4616	c.4361C>T	c.(4360-4362)GCA>GTA	p.A1454V	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.A1454V	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1454	SH3.					cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GAGGTGCAGGCACTGTGCCAC	0.642													T	35561189	C	T	35561189	3	4	27	1	0	0	0	0	1	0	0	0	13751	710	25	2	4403	2	RUSC2	9	35561189	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	13555	35561189	105652242	4442	28393											
TESK1	7016	broad.mit.edu	37	chr9	35609008	35609008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtcaaccccttctcactaCgggaagacctcaggggtggc	12	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:35609008C>T	uc003zxa.2	+	10	1486	c.1150C>T	c.(1150-1152)CGG>TGG	p.R384W	TESK1_uc003zwz.1_Intron|TESK1_uc010mks.2_Missense_Mutation_p.R224W	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	384					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTTCTCACTACGGGAAGACCT	0.592													T	35609008	C	T	35609008	3	4	27	1	0	0	0	0	1	0	0	0	15764	527	19	1	1188	1	TESK1	9	35609008	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	47819	35609008	105604423	4443	28394											
SIT1	27240	broad.mit.edu	37	chr9	35650822	35650822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagagtccacaagcacactGctctgagccgagggtcagcc	12	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:35650822G>A	uc003zxe.1	-	1	126	c.29C>T	c.(28-30)GCA>GTA	p.A10V	SIT1_uc003zxf.1_RNA	NM_014450	NP_055265	Q9Y3P8	SIT1_HUMAN	SHP2-interacting transmembrane adaptor protein	10					regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding				0			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAAGCACACTGCTCTGAGCCG	0.627													A	35650822	G	A	35650822	3	1	27	1	0	0	0	0	1	0	0	0	14344	1319	46	2	581	2	SIT1	9	35650822	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	41814	35650822	105562609	4444	28395											
TPM2	7169	broad.mit.edu	37	chr9	35685136	35685136	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccagctgtctggctcgGctgggggcagcgggcagggg	19	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:35685136G>A	uc003zxq.2	-	6	803	c.564C>T	c.(562-564)AGC>AGT	p.S188S	TPM2_uc003zxr.2_Intron|TPM2_uc003zxs.2_Intron|TPM2_uc010mkz.2_Silent_p.S188S|TPM2_uc011lpa.1_3'UTR	NM_213674	NP_998839	P07951	TPM2_HUMAN	tropomyosin 2 (beta) isoform 2	188	By similarity.				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			ovary(1)	1	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTCTGGCTCGGCTGGGGGCAG	0.627													A	35685136	G	A	35685136	2	1	27	1	0	0	0	0	0	0	0	1	16403	1217	42	2		2	TPM2	9	35685136	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	34314	35685136	105528295	4445	28396											
TLN1	7094	broad.mit.edu	37	chr9	35720857	35720857	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaatgagctgtgcaatctgCtccccttcagttgtctgtac	9	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:35720857C>T	uc003zxt.2	-	11	1512	c.1158G>A	c.(1156-1158)GAG>GAA	p.E386E		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	386	FERM.|Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTGCAATCTGCTCCCCTTCAG	0.502													T	35720857	C	T	35720857	2	4	27	1	0	0	0	0	0	0	0	1	15944	796	28	2		2	TLN1	9	35720857	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	35721	35720857	105492574	4446	28397											
ZBTB5	9925	broad.mit.edu	37	chr9	37440560	37440560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctctgccagcgcaggcaGgtagtctttgagtgcttata	12	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:37440560G>A	uc003zzx.2	-	2	2189	c.1989C>T	c.(1987-1989)ACC>ACT	p.T663T		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	663	C2H2-type 2; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		AGCGCAGGCAGGTAGTCTTTG	0.502													A	37440560	G	A	37440560	2	1	27	1	0	0	0	0	0	0	0	1	17548	987	35	4		4	ZBTB5	9	37440560	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1719703	37440560	103772871	4447	28398											
FBXO10	26267	broad.mit.edu	37	chr9	37521836	37521836	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaccacagcccttgttagCtgggacagtgagaggagctg	13	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:37521836C>T	uc004aab.2	-	8	1980	c.1931_splice	c.e8-1	p.A644_splice	FBXO10_uc004aac.2_Splice_Site_p.A660_splice|FBXO10_uc004aad.2_Splice_Site_p.A194_splice	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	F-box protein 10							ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)		CCCTTGTTAGCTGGGACAGTG	0.567													T	37521836	C	T	37521836	5	4	27	1	0	0	0	0	0	0	1	0	5726	811	28	2	956	2	FBXO10	9	37521836	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	81276	37521836	103691595	4448	28399											
MCART1	92014	broad.mit.edu	37	chr9	37888102	37888102	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtaaatttgtcatgatgcTtgtggtcttgaagcaatgtc	11	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:37888102T>G	uc004aau.2	-	3	1190	c.446A>C	c.(445-447)AAG>ACG	p.K149T	MCART1_uc004aar.1_Intron|MCART1_uc004aaq.1_Intron|uc004aat.1_5'Flank|MCART1_uc004aav.2_Missense_Mutation_p.K149T	NM_033412	NP_219480	Q9H1U9	MCAR1_HUMAN	mitochondrial carrier triple repeat 1	149	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane				ovary(2)|breast(1)	3				GBM - Glioblastoma multiforme(29;0.00559)|Lung(182;0.0422)		GTCATGATGCTTGTGGTCTTG	0.473													G	37888102	T	G	37888102	3	3	27	1	0	0	0	0	1	0	0	0	9369	1609	56	5	451	5	MCART1	9	37888102	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	366266	37888102	103325329	4449	28400											
ANKRD20A3	441425	broad.mit.edu	37	chr9	42368597	42368597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggagcggagacctggaCgccctggacaagcagcacag	15	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:42368597C>T	uc004acd.2	+	1	295	c.183C>T	c.(181-183)GAC>GAT	p.D61D	ANKRD20A3_uc010mmv.2_Silent_p.D61D	NM_001012419	NP_001012419	Q5VUR7	A20A3_HUMAN	ankyrin repeat domain 20 family, member A3	61											0						GAGACCTGGACGCCCTGGACA	0.721													T	42368597	C	T	42368597	2	4	27	1	0	0	0	0	0	0	0	1	649	535	19	1		1	ANKRD20A3	9	42368597	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4480495	42368597	98844834	4450	28401											
FOXD4L3	286380	broad.mit.edu	37	chr9	70918913	70918913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaatttgtccccgaccgcGtggagctactgccacctgct	10	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:70918913G>A	uc004agm.1	+	1	1131	c.1046G>A	c.(1045-1047)CGT>CAT	p.R349H		NM_199135	NP_954586	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	349						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		CCCCGACCGCGTGGAGCTACT	0.632													A	70918913	G	A	70918913	3	1	27	1	0	0	0	0	1	0	0	0	6001	1145	40	1	1048	1	FOXD4L3	9	70918913	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	28550316	70918913	70294518	4451	28402											
PGM5	5239	broad.mit.edu	37	chr9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattattggacagaatggcAtcttgtcgacacctgcggtc	11	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478													G	70993145	A	G	70993145	3	3	27	1	0	0	0	0	1	0	0	0	11801	217	8	3	298	3	PGM5	9	70993145	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	74232	70993145	70220286	4452	28403											
PGM5	5239	broad.mit.edu	37	chr9	70999325	70999325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acattttaggtcctgcacccGatgttgtctcagacaaaatc	7	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:70999325G>A	uc004agr.2	+	3	665	c.436G>A	c.(436-438)GAT>AAT	p.D146N		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	146					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						TCCTGCACCCGATGTTGTCTC	0.418													A	70999325	G	A	70999325	3	1	27	1	0	0	0	0	1	0	0	0	11801	1058	37	1	446	1	PGM5	9	70999325	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	6180	70999325	70214106	4453	28404											
TJP2	9414	broad.mit.edu	37	chr9	71836211	71836211	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattgaccaggactacgagCgagcctatcaccgggcctac	11	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:71836211C>T	uc004ahe.2	+	5	951	c.751C>T	c.(751-753)CGA>TGA	p.R251*	TJP2_uc011lrs.1_Nonsense_Mutation_p.R228*|TJP2_uc004ahb.1_Nonsense_Mutation_p.R228*|TJP2_uc011lrt.1_Nonsense_Mutation_p.R228*|TJP2_uc004ahd.2_Nonsense_Mutation_p.R251*|TJP2_uc004ahf.2_Nonsense_Mutation_p.R251*|TJP2_uc011lru.1_Nonsense_Mutation_p.R255*|TJP2_uc011lrv.1_Nonsense_Mutation_p.R273*	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	251					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						GGACTACGAGCGAGCCTATCA	0.721													T	71836211	C	T	71836211	4	4	27	1	0	0	0	0	0	1	0	0	15927	760	27	1	926	1	TJP2	9	71836211	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	836886	71836211	69377220	4454	28405											
APBA1	320	broad.mit.edu	37	chr9	72046302	72046302	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacatcgcggctggcattgTcttcatatgaatctgagggt	12	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:72046302T>C	uc004ahh.2	-	13	2731	c.2455A>G	c.(2455-2457)ACA>GCA	p.T819A		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	819	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						GCTGGCATTGTCTTCATATGA	0.617													C	72046302	T	C	72046302	3	2	27	1	0	0	0	0	1	0	0	0	756	1667	58	3	62	3	APBA1	9	72046302	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	210091	72046302	69167129	4455	28406											
PTAR1	375743	broad.mit.edu	37	chr9	72338404	72338404	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctggctcacttctcaaaGgattttgctccatcacagaa	9	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:72338404G>T	uc004ahj.3	-	6	807	c.785C>A	c.(784-786)CCT>CAT	p.P262H	PTAR1_uc004ahi.2_Missense_Mutation_p.P183H	NM_001099666	NP_001093136	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat	262					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)	1						ACTTCTCAAAGGATTTTGCTC	0.423													T	72338404	G	T	72338404	3	4	27	1	0	0	0	0	1	0	0	0	12724	1000	35	5	435	5	PTAR1	9	72338404	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	292102	72338404	68875027	4456	28407											
KLF9	687	broad.mit.edu	37	chr9	73002756	73002756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggtggaactcggtgtgcCgccgggcgtgctttgtgagg	20	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:73002756C>T	uc004aht.2	-	2	1965	c.671G>A	c.(670-672)CGG>CAG	p.R224Q		NM_001206	NP_001197	Q13886	KLF9_HUMAN	Kruppel-like factor 9	224	C2H2-type 3.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CTCGGTGTGCCGCCGGGCGTG	0.622													T	73002756	C	T	73002756	3	4	27	1	0	0	0	0	1	0	0	0	8353	652	23	1	67	1	KLF9	9	73002756	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	664352	73002756	68210675	4457	28408											
TRPM3	80036	broad.mit.edu	37	chr9	73213415	73213415	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagacggatataccagtaaaTgatgttcacgcagtagatga	11	6	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:73213415T>G	uc004aid.2	-	20	3176	c.2932A>C	c.(2932-2934)ATT>CTT	p.I978L	TRPM3_uc004ahu.2_Missense_Mutation_p.I808L|TRPM3_uc004ahv.2_Missense_Mutation_p.I780L|TRPM3_uc004ahw.2_Missense_Mutation_p.I850L|TRPM3_uc004ahx.2_Missense_Mutation_p.I837L|TRPM3_uc004ahy.2_Missense_Mutation_p.I840L|TRPM3_uc004ahz.2_Missense_Mutation_p.I827L|TRPM3_uc004aia.2_Missense_Mutation_p.I825L|TRPM3_uc004aib.2_Missense_Mutation_p.I815L|TRPM3_uc004aic.2_Missense_Mutation_p.I978L	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1003	Helical; (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						TACCAGTAAATGATGTTCACG	0.478													G	73213415	T	G	73213415	3	3	27	1	0	0	0	0	1	0	0	0	16584	1464	51	5	2215	5	TRPM3	9	73213415	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	210659	73213415	68000016	4458	28409											
TRPM3	80036	broad.mit.edu	37	chr9	73225634	73225634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcttcatccttcttcctgGaggactccccgttgtttcgt	7	15	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:73225634G>A	uc004aid.2	-	18	2766	c.2522C>T	c.(2521-2523)TCC>TTC	p.S841F	TRPM3_uc004ahu.2_Missense_Mutation_p.S671F|TRPM3_uc004ahv.2_Missense_Mutation_p.S643F|TRPM3_uc004ahw.2_Missense_Mutation_p.S713F|TRPM3_uc004ahx.2_Missense_Mutation_p.S700F|TRPM3_uc004ahy.2_Missense_Mutation_p.S703F|TRPM3_uc004ahz.2_Missense_Mutation_p.S690F|TRPM3_uc004aia.2_Missense_Mutation_p.S688F|TRPM3_uc004aib.2_Missense_Mutation_p.S678F|TRPM3_uc004aic.2_Missense_Mutation_p.S841F	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	866	Extracellular (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						CTTCTTCCTGGAGGACTCCCC	0.378													A	73225634	G	A	73225634	3	1	27	1	0	0	0	0	1	0	0	0	16584	1174	41	4	2633	4	TRPM3	9	73225634	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	12219	73225634	67987797	4459	28410											
TRPM3	80036	broad.mit.edu	37	chr9	73240126	73240126	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctcttggggccgaagaggTtgtggtagagggtccggaag	18	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:73240126T>C	uc004aid.2	-	13	1998	c.1754A>G	c.(1753-1755)AAC>AGC	p.N585S	TRPM3_uc004ahu.2_Missense_Mutation_p.N415S|TRPM3_uc004ahv.2_Missense_Mutation_p.N397S|TRPM3_uc004ahw.2_Missense_Mutation_p.N457S|TRPM3_uc004ahx.2_Missense_Mutation_p.N444S|TRPM3_uc004ahy.2_Missense_Mutation_p.N457S|TRPM3_uc004ahz.2_Missense_Mutation_p.N444S|TRPM3_uc004aia.2_Missense_Mutation_p.N432S|TRPM3_uc004aib.2_Missense_Mutation_p.N432S|TRPM3_uc004aic.2_Missense_Mutation_p.N585S	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	610	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						GCCGAAGAGGTTGTGGTAGAG	0.577													C	73240126	T	C	73240126	3	2	27	1	0	0	0	0	1	0	0	0	16584	1725	60	3	3421	3	TRPM3	9	73240126	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	14492	73240126	67973305	4460	28411											
TRPM3	80036	broad.mit.edu	37	chr9	73376598	73376598	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtatgtgaaagtcttctgTatagtcaccaacagctggtc	10	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:73376598T>C	uc004aid.2	-	8	1435	c.1191A>G	c.(1189-1191)ATA>ATG	p.I397M	TRPM3_uc004ahu.2_Missense_Mutation_p.I227M|TRPM3_uc004ahv.2_Missense_Mutation_p.I227M|TRPM3_uc004ahw.2_Missense_Mutation_p.I269M|TRPM3_uc004ahx.2_Missense_Mutation_p.I244M|TRPM3_uc004ahy.2_Missense_Mutation_p.I269M|TRPM3_uc004ahz.2_Missense_Mutation_p.I244M|TRPM3_uc004aia.2_Missense_Mutation_p.I244M|TRPM3_uc004aib.2_Missense_Mutation_p.I244M|TRPM3_uc004aic.2_Missense_Mutation_p.I397M|TRPM3_uc010mor.2_Missense_Mutation_p.I397M|TRPM3_uc004aie.2_Missense_Mutation_p.I244M	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	422	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						AAGTCTTCTGTATAGTCACCA	0.423													C	73376598	T	C	73376598	3	2	27	1	0	0	0	0	1	0	0	0	16584	1628	57	3	4044	3	TRPM3	9	73376598	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	136472	73376598	67836833	4461	28412											
TMEM2	23670	broad.mit.edu	37	chr9	74305064	74305064	+	Frame_Shift_Del	DEL	A	A	-													cgactgacatcagcaagaggAaaaaccgttttttccgtcaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:74305063_74305063GA>G	uc011lsa.1	-	21	4336	c.3796_3796TC>C	c.(3796-3798)cctfs	p.P1266fs	TMEM2_uc011lrz.1_Frame_Shift_Del_p.P259fs|TMEM2_uc010mos.2_Frame_Shift_Del_p.P1203fs|TMEM2_uc011lsb.1_Non-coding_Transcript|TMEM2_uc004aik.2_Frame_Shift_Del_p.P100fs	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	1266						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TCAGCAAGAGGAAAAACCGTT	0.483													-	74305064	A	-	74305064	7	5	27	1	0	1	0	1	0	0	0	0	16118	243	9	0	368	0	TMEM2	9	74305064	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	928466	74305064	66908367	4462	28413											
TMEM2	23670	broad.mit.edu	37	chr9	74315635	74315635	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtgaatgcacaggctcataTtcttcgattttggataatga	9	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:74315635T>A	uc011lsa.1	-	19	3840	c.3300A>T	c.(3298-3300)GAA>GAT	p.E1100D	TMEM2_uc011lrz.1_Missense_Mutation_p.E93D|TMEM2_uc010mos.2_Missense_Mutation_p.E1037D|TMEM2_uc011lsb.1_RNA|TMEM2_uc004aik.2_5'Flank	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	1100						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CAGGCTCATATTCTTCGATTT	0.428													A	74315635	T	A	74315635	3	1	27	1	0	0	0	0	1	0	0	0	16118	1490	52	5	875	5	TMEM2	9	74315635	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	10571	74315635	66897796	4463	28414											
TMEM2	23670	broad.mit.edu	37	chr9	74360123	74360123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgggtatcaaatctctcaCtttccaaaattttggccgtg	7	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:74360123C>T	uc011lsa.1	-	4	1385	c.845G>A	c.(844-846)AGT>AAT	p.S282N	TMEM2_uc010mos.2_Missense_Mutation_p.S282N|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	282						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AAATCTCTCACTTTCCAAAAT	0.502													T	74360123	C	T	74360123	3	4	27	1	0	0	0	0	1	0	0	0	16118	565	20	4	3390	4	TMEM2	9	74360123	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	44488	74360123	66853308	4464	28415											
GDA	9615	broad.mit.edu	37	chr9	74817550	74817550	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcagtattcctttgctggAagtagcatagacctgccact	8	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:74817550A>G	uc004aiq.2	+	3	459	c.276A>G	c.(274-276)GGA>GGG	p.G92G	GDA_uc011lse.1_Silent_p.G18G|GDA_uc011lsf.1_Silent_p.G18G|GDA_uc004air.2_Silent_p.G92G|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Silent_p.G50G|GDA_uc004ait.1_Silent_p.G18G	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN	guanine deaminase	92					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CCTTTGCTGGAAGTAGCATAG	0.413													G	74817550	A	G	74817550	2	3	27	1	0	0	0	0	0	0	0	1	6306	233	9	3		3	GDA	9	74817550	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	457427	74817550	66395881	4465	28416											
TMC1	117531	broad.mit.edu	37	chr9	75355124	75355124	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttaagatgatgatggccaAggtaggtatttttatagttg	11	2	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:75355124A>C	uc004aiz.1	+	9	992	c.452A>C	c.(451-453)AAG>ACG	p.K151T	TMC1_uc010moz.1_Missense_Mutation_p.K109T|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.K5T|TMC1_uc010mpa.1_Missense_Mutation_p.K5T	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	151	Cytoplasmic (Potential).|Arg/Asp/Glu/Lys-rich (highly charged).				sensory perception of sound	integral to membrane				ovary(1)	1						ATGATGGCCAAGGTAGGTATT	0.244													C	75355124	A	C	75355124	3	2	27	1	0	0	0	0	1	0	0	0	15981	86	3	5	470	5	TMC1	9	75355124	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	537574	75355124	65858307	4466	28417											
RORB	6096	broad.mit.edu	37	chr9	77280434	77280434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggttttagtgagaatgtGccgtgccttcaacccattaa	10	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:77280434G>A	uc004aji.2	+	7	1005	c.956G>A	c.(955-957)TGC>TAC	p.C319Y	RORB_uc004ajh.2_Missense_Mutation_p.C308Y	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	319	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						GTGAGAATGTGCCGTGCCTTC	0.308													A	77280434	G	A	77280434	3	1	27	1	0	0	0	0	1	0	0	0	13529	1319	46	2	949	2	RORB	9	77280434	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1925310	77280434	63932997	4467	28418											
TRPM6	140803	broad.mit.edu	37	chr9	77397726	77397726	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgccactccaaagctcagcAggactatggccatgatgatc	10	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:77397726A>G	uc004ajl.1	-	22	3201	c.2963T>C	c.(2962-2964)CTG>CCG	p.L988P	TRPM6_uc004ajk.1_Missense_Mutation_p.L983P|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.L274P	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	988	Helical; (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						AAAGCTCAGCAGGACTATGGC	0.423													G	77397726	A	G	77397726	3	3	27	1	0	0	0	0	1	0	0	0	16587	188	7	3	3177	3	TRPM6	9	77397726	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	117292	77397726	63815705	4468	28419											
OSTF1	26578	broad.mit.edu	37	chr9	77755767	77755767	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgctagaacagacttaAgaaacattgagaagaagctg	11	5	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:77755767A>G	uc004ajv.3	+	9	716	c.505A>G	c.(505-507)AGA>GGA	p.R169G	OSTF1_uc004ajw.3_Missense_Mutation_p.R126G|OSTF1_uc004ajx.3_Missense_Mutation_p.R172G	NM_012383	NP_036515	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	169					ossification|signal transduction	cytoplasm	identical protein binding			skin(1)	1						AACAGACTTAAGAAACATTGA	0.413													G	77755767	A	G	77755767	3	3	27	1	0	0	0	0	1	0	0	0	11297	64	3	3	539	3	OSTF1	9	77755767	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	358041	77755767	63457664	4469	28420											
PCSK5	5125	broad.mit.edu	37	chr9	78771999	78771999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggactgatggacgcagaaGccatggtgatggaggcagag	17	6	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:78771999G>A	uc004ajz.2	+	11	1889	c.1351G>A	c.(1351-1353)GCC>ACC	p.A451T	PCSK5_uc004ajy.2_Missense_Mutation_p.A451T|PCSK5_uc004aka.2_RNA	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	451	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3						GGACGCAGAAGCCATGGTGAT	0.507													A	78771999	G	A	78771999	3	1	27	1	0	0	0	0	1	0	0	0	11603	971	34	2	1393	2	PCSK5	9	78771999	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1016232	78771999	62441432	4470	28421											
PRUNE2	158471	broad.mit.edu	37	chr9	79323928	79323928	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcggtttgtttcattgtAcagttgcatcatgctggggt	12	6	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:79323928A>G	uc010mpk.2	-	8	3386	c.3262T>C	c.(3262-3264)TAC>CAC	p.Y1088H		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1088					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						GTTTCATTGTACAGTTGCATC	0.512													G	79323928	A	G	79323928	3	3	27	1	0	0	0	0	1	0	0	0	12641	391	14	3	6052	3	PRUNE2	9	79323928	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	551929	79323928	61889503	4471	28422											
PRUNE2	158471	broad.mit.edu	37	chr9	79465470	79465470	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcccggaatatgtggaAtgattcggaaatatttagct	9	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:79465470A>G	uc010mpk.2	-	3	377	c.253T>C	c.(253-255)TTC>CTC	p.F85L	PRUNE2_uc004akn.2_Missense_Mutation_p.F85L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	85					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						AATATGTGGAATGATTCGGAA	0.418													G	79465470	A	G	79465470	3	3	27	1	0	0	0	0	1	0	0	0	12641	101	4	3	9081	3	PRUNE2	9	79465470	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	141542	79465470	61747961	4472	28423											
FOXB2	442425	broad.mit.edu	37	chr9	79634780	79634780	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacctctccttcaacgactgCttcatcaagattccgcggag	7	14	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:79634780C>A	uc004ako.1	+	1	210	c.210C>A	c.(208-210)TGC>TGA	p.C70*		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	70	Fork-head.				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						TCAACGACTGCTTCATCAAGA	0.612													A	79634780	C	A	79634780	4	1	27	1	0	0	0	0	0	1	0	0	5993	805	28	5	212	5	FOXB2	9	79634780	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	169310	79634780	61578651	4473	28424											
VPS13A	23230	broad.mit.edu	37	chr9	79840849	79840849	+	Frame_Shift_Del	DEL	A	A	-													ttatatttttcaggagttggAaaaaaccttggatgtcttta							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:79840848_79840848GA>G	uc004akr.3	+	13	1428	c.1168_1168GA>G	c.(1168-1170)gaafs	p.E390fs	VPS13A_uc004akp.4_Frame_Shift_Del_p.E390fs|VPS13A_uc004akq.4_Frame_Shift_Del_p.E390fs|VPS13A_uc004aks.3_Frame_Shift_Del_p.E390fs	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	390					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCAGGAGTTGGAAAAAACCTT	0.284													-	79840849	A	-	79840849	7	5	27	1	0	1	0	1	0	0	0	0	17186	246	9	0	1223	0	VPS13A	9	79840849	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	206069	79840849	61372582	4474	28425											
VPS13A	23230	broad.mit.edu	37	chr9	79896801	79896801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggctgaaaagaatgtacccGacttgaaaagtacctataac	8	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:79896801G>A	uc004akr.2	+	28	3183	c.2923G>A	c.(2923-2925)GAC>AAC	p.D975N	VPS13A_uc004akp.3_Missense_Mutation_p.D975N|VPS13A_uc004akq.3_Missense_Mutation_p.D975N|VPS13A_uc004aks.2_Missense_Mutation_p.D975N	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	975					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						GAATGTACCCGACTTGAAAAG	0.269													A	79896801	G	A	79896801	3	1	27	1	0	0	0	0	1	0	0	0	17186	1058	37	1	3033	1	VPS13A	9	79896801	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	55952	79896801	61316630	4475	28426											
VPS13A	23230	broad.mit.edu	37	chr9	79946953	79946953	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcatttttcagtcccactgTctgtttacgaaggggatacc	8	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:79946953T>C	uc004akr.2	+	46	6279	c.6019T>C	c.(6019-6021)TCT>CCT	p.S2007P	VPS13A_uc004akp.3_Missense_Mutation_p.S2007P|VPS13A_uc004akq.3_Missense_Mutation_p.S2007P|VPS13A_uc004aks.2_Missense_Mutation_p.S1968P|VPS13A_uc004akt.2_Missense_Mutation_p.S347P	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2007					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						AGTCCCACTGTCTGTTTACGA	0.308													C	79946953	T	C	79946953	3	2	27	1	0	0	0	0	1	0	0	0	17186	1667	58	3	6201	3	VPS13A	9	79946953	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	50152	79946953	61266478	4476	28427											
VPS13A	23230	broad.mit.edu	37	chr9	79984308	79984308	+	Frame_Shift_Del	DEL	T	T	-													tttctgaaggtgtagaagcaTttttttatgaaccttaccag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:79984307_79984307AT>A	uc004akr.3	+	62	8906	c.8646_8646AT>A	c.(8644-8646)gcafs	p.A2882fs	VPS13A_uc004akp.4_Frame_Shift_Del_p.A2882fs|VPS13A_uc004akq.4_Frame_Shift_Del_p.A2882fs|VPS13A_uc004aks.3_Frame_Shift_Del_p.A2843fs	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2882					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTGTAGAAGCATTTTTTTATG	0.299													-	79984308	T	-	79984308	7	5	27	1	0	1	0	1	0	0	0	0	17186	1493	52	0	8897	0	VPS13A	9	79984308	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	37355	79984308	61229123	4477	28428											
GNA14	9630	broad.mit.edu	37	chr9	80144131	80144131	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacccatggataattctcaTctgcttgataaaggtgcttt	8	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:80144131T>C	uc004aku.2	-	2	686	c.163A>G	c.(163-165)ATG>GTG	p.M55V		NM_004297	NP_004288	O95837	GNA14_HUMAN	G alpha 14	55					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(2)	2						ATAATTCTCATCTGCTTGATA	0.448													C	80144131	T	C	80144131	3	2	27	1	0	0	0	0	1	0	0	0	6502	1435	50	3	928	3	GNA14	9	80144131	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	159823	80144131	61069300	4478	28429											
GNAQ	2776	broad.mit.edu	37	chr9	80343493	80343493	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctcctctagaagatcttTcttgtttaagaacagaataa	5	7	4	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:80343493T>C	uc004akw.2	-	6	867	c.826A>G	c.(826-828)AAA>GAA	p.K276E	GNAQ_uc011lso.1_Missense_Mutation_p.K74E	NM_002072	NP_002063	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein),	276	GTP (By similarity).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			eye(136)|skin(44)|meninges(11)|ovary(1)|kidney(1)	193						AGAAGATCTTTCTTGTTTAAG	0.413			Mis		uveal melanoma								C	80343493	T	C	80343493	3	2	27	1	0	0	0	0	1	0	0	0	6509	1792	62	3	261	3	GNAQ	9	80343493	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	199362	80343493	60869938	4479	28430											
PSAT1	29968	broad.mit.edu	37	chr9	80915531	80915531	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctaggtgttgttagagaTacaaaaggaattattagact	9	3	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:80915531T>C	uc004ala.2	+	2	142	c.74T>C	c.(73-75)ATA>ACA	p.I25T	PSAT1_uc004alb.2_Missense_Mutation_p.I25T	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1 isoform 1	25					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	TTGTTAGAGATACAAAAGGAA	0.343													C	80915531	T	C	80915531	3	2	27	1	0	0	0	0	1	0	0	0	12644	1406	49	3	80	3	PSAT1	9	80915531	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	572038	80915531	60297900	4480	28431											
TLE4	7091	broad.mit.edu	37	chr9	82242307	82242307	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaccagcaacaagtggtgCaggctgtggaacgggccaag	15	10	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:82242307C>T	uc004ald.2	+	6	1162	c.313C>T	c.(313-315)CAG>TAG	p.Q105*	TLE4_uc004alc.2_Nonsense_Mutation_p.Q112*|TLE4_uc010mpr.2_5'UTR|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Intron|TLE4_uc010mps.2_Nonsense_Mutation_p.Q105*|TLE4_uc004alf.2_Nonsense_Mutation_p.Q50*	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						ACAAGTGGTGCAGGCTGTGGA	0.438													T	82242307	C	T	82242307	4	4	27	1	0	0	0	0	0	1	0	0	15938	711	25	2	356	2	TLE4	9	82242307	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1326776	82242307	58971124	4481	28432											
TLE1	7088	broad.mit.edu	37	chr9	84199195	84199195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccacagagatgtcacagCtaagcactgacgaggactct	9	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:84199195C>T	uc004aly.2	-	20	2672	c.2231G>A	c.(2230-2232)AGC>AAC	p.S744N	TLE1_uc004alz.2_Missense_Mutation_p.S754N|TLE1_uc011lsr.1_Missense_Mutation_p.S729N	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	744	WD 6.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2						GATGTCACAGCTAAGCACTGA	0.468													T	84199195	C	T	84199195	3	4	27	1	0	0	0	0	1	0	0	0	15935	797	28	2	85	2	TLE1	9	84199195	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1956888	84199195	57014236	4482	28433											
TLE1	7088	broad.mit.edu	37	chr9	84248267	84248267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtttgagtacttactgtgCccggctctctgtctgctccc	10	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:84248267C>T	uc004aly.2	-	8	1031	c.590G>A	c.(589-591)GGC>GAC	p.G197D	TLE1_uc004alz.2_Missense_Mutation_p.G207D|TLE1_uc011lsr.1_Missense_Mutation_p.G197D|TLE1_uc004ama.1_Missense_Mutation_p.G197D|TLE1_uc011lss.1_Intron	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	197	Gly/Pro-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2						ACTTACTGTGCCCGGCTCTCT	0.413													T	84248267	C	T	84248267	3	4	27	1	0	0	0	0	1	0	0	0	15935	739	26	2	1774	2	TLE1	9	84248267	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	49072	84248267	56965164	4483	28434											
FLJ46321	389763	broad.mit.edu	37	chr9	84606307	84606307	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catctgctttaccaccggaaGattgcactgtgactcagtct	8	12	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:84606307G>A	uc004amn.2	+	4	969	c.922G>A	c.(922-924)GAT>AAT	p.D308N		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	308						integral to membrane					0						ACCACCGGAAGATTGCACTGT	0.498													A	84606307	G	A	84606307	3	1	27	1	0	0	0	0	1	0	0	0	5932	942	33	4	936	4	FLJ46321	9	84606307	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	358040	84606307	56607124	4484	28435											
FLJ46321	389763	broad.mit.edu	37	chr9	84606581	84606581	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactctgtggccaacctcaTagagcctgttaacatctcat	7	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:84606581T>C	uc004amn.2	+	4	1243	c.1196T>C	c.(1195-1197)ATA>ACA	p.I399T		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	399						integral to membrane					0						GCCAACCTCATAGAGCCTGTT	0.443													C	84606581	T	C	84606581	3	2	27	1	0	0	0	0	1	0	0	0	5932	1406	49	3	1210	3	FLJ46321	9	84606581	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	274	84606581	56606850	4485	28436											
FLJ46321	389763	broad.mit.edu	37	chr9	84607051	84607051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccccaacctctgtccttgCctagtacccaaccactaccc	3	21	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:84607051C>T	uc004amn.2	+	4	1713	c.1666C>T	c.(1666-1668)CCT>TCT	p.P556S		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	556						integral to membrane					0						TCTGTCCTTGCCTAGTACCCA	0.512													T	84607051	C	T	84607051	3	4	27	1	0	0	0	0	1	0	0	0	5932	739	26	2	1680	2	FLJ46321	9	84607051	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	470	84607051	56606380	4486	28437											
FLJ46321	389763	broad.mit.edu	37	chr9	84608052	84608052	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccactgcgttgatacttcCcaggaaatttccttccttag	7	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:84608052C>A	uc004amn.2	+	4	2714	c.2667C>A	c.(2665-2667)TCC>TCA	p.S889S		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	889						integral to membrane					0						TTGATACTTCCCAGGAAATTT	0.448													A	84608052	C	A	84608052	2	1	27	1	0	0	0	0	0	0	0	1	5932	610	22	5		5	FLJ46321	9	84608052	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1001	84608052	56605379	4487	28438											
RASEF	158158	broad.mit.edu	37	chr9	85612040	85612040	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agacttggcaatacttctgaAtctgagaaagagaaaaccac	8	8	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:85612040A>T	uc004amo.1	-	14	2068	c.1807T>A	c.(1807-1809)TTC>ATC	p.F603I		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	603					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						ATACTTCTGAATCTGAGAAAG	0.373													T	85612040	A	T	85612040	3	4	27	1	0	0	0	0	1	0	0	0	13068	115	4	5	431	5	RASEF	9	85612040	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1003988	85612040	55601391	4488	28439											
RASEF	158158	broad.mit.edu	37	chr9	85615158	85615158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactagacttccccactgcaGcgtccccagcaagtacaatc	6	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:85615158G>A	uc004amo.1	-	12	1910	c.1649C>T	c.(1648-1650)GCT>GTT	p.A550V		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	550	GTP (Probable).				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						CCCCACTGCAGCGTCCCCAGC	0.453													A	85615158	G	A	85615158	3	1	27	1	0	0	0	0	1	0	0	0	13068	971	34	2	597	2	RASEF	9	85615158	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3118	85615158	55598273	4489	28440											
FRMD3	257019	broad.mit.edu	37	chr9	85913663	85913663	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacagtgatcatccactcacCtgtgcacctcaggaggctcc	8	16	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:85913663C>A	uc004ams.1	-	12	1272	c.1070G>T	c.(1069-1071)AGA>ATA	p.R357I	FRMD3_uc004amr.1_Missense_Mutation_p.R343I	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	357						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2						ATCCACTCACCTGTGCACCTC	0.478													A	85913663	C	A	85913663	3	1	27	1	0	0	0	0	1	0	0	0	6050	695	24	5	735	5	FRMD3	9	85913663	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	298505	85913663	55299768	4490	28441											
UBQLN1	29979	broad.mit.edu	37	chr9	86276735	86276735	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcccagtaacctttcaatAgctgcattgatatcacctcc	6	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:86276735A>C	uc004amv.2	-	11	2311	c.1737T>G	c.(1735-1737)GCT>GCG	p.A579A	UBQLN1_uc004amw.2_Silent_p.A551A	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	ubiquilin 1 isoform 1	579	UBA.				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding				0						ACCTTTCAATAGCTGCATTGA	0.378													C	86276735	A	C	86276735	2	2	27	1	0	0	0	0	0	0	0	1	16893	407	15	5		5	UBQLN1	9	86276735	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	363072	86276735	54936696	4491	28442											
UBQLN1	29979	broad.mit.edu	37	chr9	86294735	86294735	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacatatgactaatttctggAtttctctgtatcaactgctg	6	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:86294735A>T	uc004amv.2	-	4	1240	c.666T>A	c.(664-666)AAT>AAA	p.N222K	UBQLN1_uc004amw.2_Missense_Mutation_p.N222K	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	ubiquilin 1 isoform 1	222					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding				0						TAATTTCTGGATTTCTCTGTA	0.338													T	86294735	A	T	86294735	3	4	27	1	0	0	0	0	1	0	0	0	16893	330	12	5	1135	5	UBQLN1	9	86294735	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	18000	86294735	54918696	4492	28443											
C9orf64	84267	broad.mit.edu	37	chr9	86570365	86570365	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcattaacttctgcgcactAttctcactttctcggacgca	6	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:86570365A>G	uc004anb.2	-	2	776	c.528T>C	c.(526-528)AAT>AAC	p.N176N	C9orf64_uc004anc.2_Silent_p.N35N	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	hypothetical protein LOC84267	176											0						TCTGCGCACTATTCTCACTTT	0.438													G	86570365	A	G	86570365	2	3	27	1	0	0	0	0	0	0	0	1	2489	446	16	3		3	C9orf64	9	86570365	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	275630	86570365	54643066	4493	28444											
NTRK2	4915	broad.mit.edu	37	chr9	87285819	87285819	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcgacccttctcctggcatCgtggcatttccgagattgga	11	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:87285819C>T	uc004aoa.1	+	4	1094	c.156C>T	c.(154-156)ATC>ATT	p.I52I	NTRK2_uc004anv.1_Silent_p.I52I|NTRK2_uc004any.1_Silent_p.I52I|NTRK2_uc004anz.1_Silent_p.I52I|NTRK2_uc011lsz.1_Silent_p.I52I|NTRK2_uc011lta.1_Silent_p.I52I|NTRK2_uc004aob.1_Silent_p.I52I|NTRK2_uc011ltb.1_5'Flank	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	52	Extracellular (Potential).|LRRNT.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						CTCCTGGCATCGTGGCATTTC	0.562										TSP Lung(25;0.17)			T	87285819	C	T	87285819	2	4	27	1	0	0	0	0	0	0	0	1	10707	874	31	1		1	NTRK2	9	87285819	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	715454	87285819	53927612	4494	28445											
NTRK2	4915	broad.mit.edu	37	chr9	87635214	87635214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcgacgtctggagcctgGgggtcgtgttgtgggagatt	18	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:87635214G>A	uc004aoa.1	+	19	3156	c.2218G>A	c.(2218-2220)GGG>AGG	p.G740R	NTRK2_uc004anz.1_Missense_Mutation_p.G756R	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	740	Protein kinase.|Cytoplasmic (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						CTGGAGCCTGGGGGTCGTGTT	0.567										TSP Lung(25;0.17)			A	87635214	G	A	87635214	3	1	27	1	0	0	0	0	1	0	0	0	10707	1232	43	4	2407	4	NTRK2	9	87635214	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	349395	87635214	53578217	4495	28446											
AGTPBP1	23287	broad.mit.edu	37	chr9	88234216	88234216	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctcttctggaatggtgtaActaaataaaagttttaaagt	7	6	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:88234216A>C	uc011ltd.1	-	15	2133	c.2100T>G	c.(2098-2100)AAT>AAG	p.N700K	AGTPBP1_uc004aod.3_Missense_Mutation_p.N326K|AGTPBP1_uc011ltc.1_Missense_Mutation_p.N598K|AGTPBP1_uc010mqc.2_Missense_Mutation_p.N660K|AGTPBP1_uc011lte.1_Missense_Mutation_p.N712K	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	700					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						GAATGGTGTAACTAAATAAAA	0.269													C	88234216	A	C	88234216	3	2	27	1	0	0	0	0	1	0	0	0	400	57	2	5	1624	5	AGTPBP1	9	88234216	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	599002	88234216	52979215	4496	28447											
NAA35	60560	broad.mit.edu	37	chr9	88631578	88631578	+	Frame_Shift_Del	DEL	A	A	-													gtagtagtaaaaaaacaaagAaaaaaaagaaaggtgctgtg					rs140184707		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:88631577_88631577GA>G	uc004aoi.4	+	17	1829	c.1692_1692GA>G	c.(1690-1692)aagfs	p.K564fs	NAA35_uc004aoj.4_Frame_Shift_Del_p.K564fs	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.	564					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		p.K564K(2)|p.T563K(1)|p.T563fs*10(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						AAAAAACAAAGAAAAAAAAGA	0.383													-	88631578	A	-	88631578	7	5	27	1	0	1	0	1	0	0	0	0	10123	247	9	0	1759	0	NAA35	9	88631578	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	397362	88631578	52581853	4497	28448											
ZCCHC6	79670	broad.mit.edu	37	chr9	88943388	88943388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgaaattccctagtttgCttaatgagaatccttcaatc	7	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:88943388C>T	uc004aoq.2	-	11	1690	c.1475G>A	c.(1474-1476)AGC>AAC	p.S492N	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.S369N|ZCCHC6_uc004aou.2_Missense_Mutation_p.S492N	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	492					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						CCCTAGTTTGCTTAATGAGAA	0.338													T	88943388	C	T	88943388	3	4	27	1	0	0	0	0	1	0	0	0	17589	797	28	2	3080	2	ZCCHC6	9	88943388	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	311810	88943388	52270043	4498	28449											
DAPK1	1612	broad.mit.edu	37	chr9	90313624	90313624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcctggtggccacccacGctgacatcatgaatgttcct	9	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:90313624G>A	uc004apc.2	+	23	2803	c.2665G>A	c.(2665-2667)GCT>ACT	p.A889T	DAPK1_uc004apd.2_Missense_Mutation_p.A889T|DAPK1_uc011ltg.1_Missense_Mutation_p.A823T|DAPK1_uc011lth.1_Missense_Mutation_p.A626T	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	889	ANK 9.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						GGCCACCCACGCTGACATCAT	0.572									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				A	90313624	G	A	90313624	3	1	27	1	0	0	0	0	1	0	0	0	4235	1087	38	1	2751	1	DAPK1	9	90313624	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1370236	90313624	50899807	4499	28450											
C9orf79	286234	broad.mit.edu	37	chr9	90503684	90503684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatggcaagcacctcgggcGgcccccatccacagctgcag	12	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:90503684G>A	uc004app.3	+	4	4317	c.4282G>A	c.(4282-4284)GGC>AGC	p.G1428S		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	1428						integral to membrane				ovary(3)	3						CACCTCGGGCGGCCCCCATCC	0.617													A	90503684	G	A	90503684	3	1	27	1	0	0	0	0	1	0	0	0	2497	1116	39	1	4296	1	C9orf79	9	90503684	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	190060	90503684	50709747	4500	28451											
S1PR3	1903	broad.mit.edu	37	chr9	91617218	91617218	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcctgcatcatggacaagaAcgcagcacttcagaatggga	10	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:91617218A>G	uc004aqe.2	+	2	1499	c.1103A>G	c.(1102-1104)AAC>AGC	p.N368S		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	368	Cytoplasmic (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						ATGGACAAGAACGCAGCACTT	0.537													G	91617218	A	G	91617218	3	3	27	1	0	0	0	0	1	0	0	0	13795	43	2	3	1105	3	S1PR3	9	91617218	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1113534	91617218	49596213	4501	28452											
SECISBP2	79048	broad.mit.edu	37	chr9	91972374	91972374	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattgattatgcctgtgagcAgaacattccctttgtgtttg	9	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:91972374A>G	uc004aqj.1	+	15	2242	c.2162A>G	c.(2161-2163)CAG>CGG	p.Q721R	SECISBP2_uc011ltk.1_Missense_Mutation_p.Q720R|SECISBP2_uc004aqk.1_Missense_Mutation_p.Q648R|SECISBP2_uc010mqo.1_Missense_Mutation_p.Q426R|SECISBP2_uc011ltl.1_Missense_Mutation_p.Q653R	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	721					translation	nucleus	mRNA 3'-UTR binding			ovary(2)|skin(1)	3						GCCTGTGAGCAGAACATTCCC	0.478													G	91972374	A	G	91972374	3	3	27	1	0	0	0	0	1	0	0	0	14006	188	7	3	2220	3	SECISBP2	9	91972374	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	355156	91972374	49241057	4502	28453											
SEMA4D	10507	broad.mit.edu	37	chr9	92003858	92003858	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcacgaagacatcccgCagcacattgaagaccaagcc	9	14	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:92003858C>T	uc004aqo.1	-	12	1451	c.879G>A	c.(877-879)CTG>CTA	p.L293L	SEMA4D_uc011ltm.1_Silent_p.L293L|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Silent_p.L291L	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	293	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						AGACATCCCGCAGCACATTGA	0.607													T	92003858	C	T	92003858	2	4	27	1	0	0	0	0	0	0	0	1	14034	697	25	2		2	SEMA4D	9	92003858	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	31484	92003858	49209573	4503	28454											
SEMA4D	10507	broad.mit.edu	37	chr9	92008521	92008521	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgctgggtcaaagggacatCttcctttgccatcttcattt	9	10	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:92008521C>T	uc004aqo.1	-	9	1036	c.464G>A	c.(463-465)AGA>AAA	p.R155K	SEMA4D_uc011ltm.1_Missense_Mutation_p.R155K|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.R153K	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	155	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						AAAGGGACATCTTCCTTTGCC	0.423													T	92008521	C	T	92008521	3	4	27	1	0	0	0	0	1	0	0	0	14034	913	32	4	2734	4	SEMA4D	9	92008521	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4663	92008521	49204910	4504	28455											
SYK	6850	broad.mit.edu	37	chr9	93606454	93606454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccgacctctgccactacCactcccaggagtctgatggc	9	18	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:93606454C>T	uc004aqz.2	+	2	479	c.274C>T	c.(274-276)CAC>TAC	p.H92Y	SYK_uc004aqy.2_Missense_Mutation_p.H92Y|SYK_uc004ara.2_Missense_Mutation_p.H92Y|SYK_uc004arb.2_Missense_Mutation_p.H92Y|SYK_uc004arc.2_Missense_Mutation_p.H92Y|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	92	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						CTGCCACTACCACTCCCAGGA	0.632			T	ETV6|ITK	MDS|peripheral T-cell lymphoma								T	93606454	C	T	93606454	3	4	27	1	0	0	0	0	1	0	0	0	15435	594	21	4	276	4	SYK	9	93606454	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1597933	93606454	47606977	4505	28456											
SYK	6850	broad.mit.edu	37	chr9	93636501	93636501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttagtcctcccctgcccaaGggaaccggcaagagagtact	10	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:93636501G>A	uc004aqz.2	+	8	1136	c.931G>A	c.(931-933)GGG>AGG	p.G311R	SYK_uc004ara.2_Missense_Mutation_p.G288R|SYK_uc004arb.2_Missense_Mutation_p.G288R|SYK_uc004arc.2_Missense_Mutation_p.G311R|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	311	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						CCCTGCCCAAGGGAACCGGCA	0.423			T	ETV6|ITK	MDS|peripheral T-cell lymphoma								A	93636501	G	A	93636501	3	1	27	1	0	0	0	0	1	0	0	0	15435	1000	35	4	957	4	SYK	9	93636501	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	30047	93636501	47576930	4506	28457											
AUH	549	broad.mit.edu	37	chr9	93979588	93979588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgattaattgctaattttgCcactctcattgcaacaggtc	6	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:93979588C>T	uc004arf.3	-	8	900	c.865G>A	c.(865-867)GCA>ACA	p.A289T	AUH_uc004arg.3_Missense_Mutation_p.A260T	NM_001698	NP_001689	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-Coenzyme A	289					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding				0						GCTAATTTTGCCACTCTCATT	0.313													T	93979588	C	T	93979588	3	4	27	1	0	0	0	0	1	0	0	0	1219	739	26	2	166	2	AUH	9	93979588	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	343087	93979588	47233843	4507	28458											
NFIL3	4783	broad.mit.edu	37	chr9	94172249	94172249	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtagtgggggagagtgTgagtacccagagaaagaatt	16	4	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:94172249T>C	uc004arh.2	-	2	1163	c.768A>G	c.(766-768)TCA>TCG	p.S256S		NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	256					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						GGGGAGAGTGTGAGTACCCAG	0.493													C	94172249	T	C	94172249	2	2	27	1	0	0	0	0	0	0	0	1	10373	1683	59	3		3	NFIL3	9	94172249	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	192661	94172249	47041182	4508	28459											
ROR2	4920	broad.mit.edu	37	chr9	94486078	94486078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccccatcttctggggCgttctgtgtgtcatcagcgc	13	13	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:94486078C>T	uc004arj.1	-	9	2897	c.2698G>A	c.(2698-2700)GCC>ACC	p.A900T	ROR2_uc004ari.1_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	900	Cytoplasmic (Potential).				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						TCTTCTGGGGCGTTCTGTGTG	0.632													T	94486078	C	T	94486078	3	4	27	1	0	0	0	0	1	0	0	0	13527	768	27	1	137	1	ROR2	9	94486078	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	313829	94486078	46727353	4509	28460											
ROR2	4920	broad.mit.edu	37	chr9	94487031	94487031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccagggcggacttcaccGtgcggtcatcatcggtgctg	14	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:94487031G>A	uc004arj.1	-	9	1944	c.1745C>T	c.(1744-1746)ACG>ATG	p.T582M	ROR2_uc004ari.1_Missense_Mutation_p.T442M	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	582	Cytoplasmic (Potential).|Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						GGACTTCACCGTGCGGTCATC	0.627													A	94487031	G	A	94487031	3	1	27	1	0	0	0	0	1	0	0	0	13527	1145	40	1	1090	1	ROR2	9	94487031	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	953	94487031	46726400	4510	28461											
IARS	3376	broad.mit.edu	37	chr9	95040154	95040154	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctaagcttaccttcaggaaAtagtcaaacaggggcctgta	9	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:95040154A>T	uc004art.1	-	9	1142	c.885T>A	c.(883-885)TAT>TAA	p.Y295*	IARS_uc004ars.1_Nonsense_Mutation_p.Y140*|IARS_uc004aru.3_Nonsense_Mutation_p.Y295*|IARS_uc010mqr.2_Nonsense_Mutation_p.Y185*|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	295					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)	CCTTCAGGAAATAGTCAAACA	0.408													T	95040154	A	T	95040154	4	4	27	1	0	0	0	0	0	1	0	0	7473	108	4	5	3007	5	IARS	9	95040154	Nonsense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	553123	95040154	46173277	4511	28462											
NOL8	55035	broad.mit.edu	37	chr9	95077604	95077604	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccatgactgagggctgactCtacattgctttttctttttt	7	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:95077604C>T	uc004arv.2	-	7	1640	c.1303G>A	c.(1303-1305)GAG>AAG	p.E435K	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.E367K	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	435					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						AGGGCTGACTCTACATTGCTT	0.363													T	95077604	C	T	95077604	3	4	27	1	0	0	0	0	1	0	0	0	10527	922	32	4	2244	4	NOL8	9	95077604	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	37450	95077604	46135827	4512	28463											
ECM2	1842	broad.mit.edu	37	chr9	95258669	95258669	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatgtgtaagatggtatTtctctaattttaatataatt	6	2	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:95258669T>A	uc004ash.2	-	10	2093	c.2028A>T	c.(2026-2028)GAA>GAT	p.E676D	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Intron|ECM2_uc011lty.1_Missense_Mutation_p.E676D|ECM2_uc004asg.2_Missense_Mutation_p.E654D|ECM2_uc010mqz.1_Missense_Mutation_p.E98D	NM_001393	NP_001384	O94769	ECM2_HUMAN	extracellular matrix protein 2 precursor	676	LRR 13.				cell-matrix adhesion		integrin binding			ovary(1)|skin(1)	2						AAGATGGTATTTCTCTAATTT	0.303													A	95258669	T	A	95258669	3	1	27	1	0	0	0	0	1	0	0	0	4898	1838	64	5	75	5	ECM2	9	95258669	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	181065	95258669	45954762	4513	28464											
IPPK	64768	broad.mit.edu	37	chr9	95418797	95418797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatttttcccaaagtccaCtatgttctgcaggtgttgaa	8	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:95418797C>T	uc004asl.1	-	3	443	c.166G>A	c.(166-168)GTG>ATG	p.V56M		NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	56					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			ovary(2)	2						CCAAAGTCCACTATGTTCTGC	0.448													T	95418797	C	T	95418797	3	4	27	1	0	0	0	0	1	0	0	0	7801	565	20	4	1353	4	IPPK	9	95418797	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	160128	95418797	45794634	4514	28465											
BICD2	23299	broad.mit.edu	37	chr9	95482980	95482980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctccagctggctgttgaGgtactcggtctcctcctcca	9	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:95482980G>A	uc004aso.1	-	4	721	c.664C>T	c.(664-666)CTC>TTC	p.L222F	BICD2_uc004asp.1_Missense_Mutation_p.L222F	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	222	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						TGGCTGTTGAGGTACTCGGTC	0.567													A	95482980	G	A	95482980	3	1	27	1	0	0	0	0	1	0	0	0	1429	1000	35	4	1929	4	BICD2	9	95482980	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	64183	95482980	45730451	4515	28466											
BICD2	23299	broad.mit.edu	37	chr9	95485026	95485026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcagcagacgagcttccCggaatttgtactccttgatg	10	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:95485026C>T	uc004aso.1	-	3	575	c.518G>A	c.(517-519)CGG>CAG	p.R173Q	BICD2_uc004asp.1_Missense_Mutation_p.R173Q	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	173	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						ACGAGCTTCCCGGAATTTGTA	0.562													T	95485026	C	T	95485026	3	4	27	1	0	0	0	0	1	0	0	0	1429	652	23	1	2079	1	BICD2	9	95485026	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2046	95485026	45728405	4516	28467											
BICD2	23299	broad.mit.edu	37	chr9	95491462	95491462	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggatcaggctctcctcCcggctctctccgtcagcagc	9	18	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:95491462C>T	uc004aso.1	-	2	354	c.297G>A	c.(295-297)CGG>CGA	p.R99R	BICD2_uc004asp.1_Silent_p.R99R	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	99	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						GGCTCTCCTCCCGGCTCTCTC	0.592													T	95491462	C	T	95491462	2	4	27	1	0	0	0	0	0	0	0	1	1429	610	22	4		4	BICD2	9	95491462	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6436	95491462	45721969	4517	28468											
FGD3	89846	broad.mit.edu	37	chr9	95780478	95780478	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcataacaggaagaaaaaggTccctggagctgcagacgcgg	13	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:95780478T>A	uc004asw.2	+	11	1964	c.1336T>A	c.(1336-1338)TCC>ACC	p.S446T	FGD3_uc004asx.2_Missense_Mutation_p.S446T|FGD3_uc004asz.2_Missense_Mutation_p.S446T|FGD3_uc004ata.2_Missense_Mutation_p.S249T|FGD3_uc011luc.1_Missense_Mutation_p.S49T	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	446	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						AAGAAAAAGGTCCCTGGAGCT	0.428													A	95780478	T	A	95780478	3	1	27	1	0	0	0	0	1	0	0	0	5834	1667	58	5	1370	5	FGD3	9	95780478	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	289016	95780478	45432953	4518	28469											
FGD3	89846	broad.mit.edu	37	chr9	95795136	95795136	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttcctgacacagccagTggcccctgagagcacagagg	12	12	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:95795136T>C	uc004asw.2	+	16	2394	c.1766T>C	c.(1765-1767)GTG>GCG	p.V589A	FGD3_uc004asx.2_Missense_Mutation_p.V589A|FGD3_uc004asz.2_Missense_Mutation_p.V589A|FGD3_uc011luc.1_Missense_Mutation_p.V192A	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	589					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						ACACAGCCAGTGGCCCCTGAG	0.637													C	95795136	T	C	95795136	3	2	27	1	0	0	0	0	1	0	0	0	5834	1696	59	3	1820	3	FGD3	9	95795136	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	14658	95795136	45418295	4519	28470											
FAM120A	23196	broad.mit.edu	37	chr9	96294524	96294524	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctataggccagttcgtcagTatgtttacggagtcctgttt	10	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:96294524T>C	uc004atw.2	+	10	1847	c.1822T>C	c.(1822-1824)TAT>CAT	p.Y608H	FAM120A_uc004atx.2_Missense_Mutation_p.Y390H|FAM120A_uc004aty.2_Missense_Mutation_p.Y389H|FAM120A_uc004atz.2_Missense_Mutation_p.Y257H|FAM120A_uc010mrg.2_5'UTR	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	608						cytoplasm|plasma membrane	RNA binding				0						AGTTCGTCAGTATGTTTACGG	0.433													C	96294524	T	C	96294524	3	2	27	1	0	0	0	0	1	0	0	0	5415	1638	57	3	1860	3	FAM120A	9	96294524	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	499388	96294524	44918907	4520	28471											
FAM120A	23196	broad.mit.edu	37	chr9	96312895	96312895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggagcacgcatccttcgGcgtcaggagctagatgcctt	13	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:96312895G>A	uc004atw.2	+	12	2221	c.2196G>A	c.(2194-2196)CGG>CGA	p.R732R	FAM120A_uc004aty.2_Silent_p.R513R|FAM120A_uc004atz.2_Silent_p.R381R|FAM120A_uc010mrg.2_Silent_p.R45R	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	732						cytoplasm|plasma membrane	RNA binding				0						GCATCCTTCGGCGTCAGGAGC	0.552													A	96312895	G	A	96312895	2	1	27	1	0	0	0	0	0	0	0	1	5415	1190	42	2		2	FAM120A	9	96312895	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	18371	96312895	44900536	4521	28472											
PTPDC1	138639	broad.mit.edu	37	chr9	96864017	96864017	+	Frame_Shift_Del	DEL	T	T	-													agcagatgccgcagaagcacTttttttattagagaaggtaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:96864016_96864016CT>C	uc010mrj.2	+	6	2284	c.2182_2182CT>C	c.(2182-2184)cttfs	p.L728fs	PTPDC1_uc004auf.2_Frame_Shift_Del_p.L674fs|PTPDC1_uc004aug.2_Frame_Shift_Del_p.L669fs|PTPDC1_uc004auh.2_Frame_Shift_Del_p.L726fs	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	674							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CGCAGAAGCACTTTTTTTATT	0.428													-	96864017	T	-	96864017	7	5	27	1	0	1	0	1	0	0	0	0	12773	1609	56	0	2289	0	PTPDC1	9	96864017	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	551122	96864017	44349414	4522	28473											
PTCH1	5727	broad.mit.edu	37	chr9	98209422	98209422	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagtcacggaggcagaagcCgtcacagtggtgatgggctg	16	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:98209422C>A	uc004avk.3	-	23	4304	c.4116G>T	c.(4114-4116)ACG>ACT	p.T1372T	PTCH1_uc010mrn.2_Silent_p.T164T|PTCH1_uc010mro.2_Silent_p.T1221T|PTCH1_uc010mrp.2_Silent_p.T1221T|PTCH1_uc010mrq.2_Silent_p.T1221T|PTCH1_uc004avl.3_Silent_p.T1221T|PTCH1_uc010mrr.2_Silent_p.T1306T|PTCH1_uc004avm.3_Silent_p.T1371T	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	1372	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AGGCAGAAGCCGTCACAGTGG	0.711									Basal_Cell_Nevus_syndrome				A	98209422	C	A	98209422	2	1	27	1	0	0	0	0	0	0	0	1	12730	639	23	5		5	PTCH1	9	98209422	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1345405	98209422	43004009	4523	28474											
PTCH1	5727	broad.mit.edu	37	chr9	98222017	98222017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcaggtagatgtagaaagCgctgggattaatgatgccat	13	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:98222017C>T	uc004avk.3	-	17	2940	c.2752G>A	c.(2752-2754)GCT>ACT	p.A918T	PTCH1_uc010mro.2_Missense_Mutation_p.A767T|PTCH1_uc010mrp.2_Missense_Mutation_p.A767T|PTCH1_uc010mrq.2_Missense_Mutation_p.A767T|PTCH1_uc004avl.3_Missense_Mutation_p.A767T|PTCH1_uc010mrr.2_Missense_Mutation_p.A852T|PTCH1_uc004avm.3_Missense_Mutation_p.A917T	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	918	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ATGTAGAAAGCGCTGGGATTA	0.547									Basal_Cell_Nevus_syndrome				T	98222017	C	T	98222017	3	4	27	1	0	0	0	0	1	0	0	0	12730	768	27	1	1619	1	PTCH1	9	98222017	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	12595	98222017	42991414	4524	28475											
PTCH1	5727	broad.mit.edu	37	chr9	98231206	98231206	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgagggtgtcctgtgTcacggtgacgggctgcacag	17	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:98231206T>C	uc004avk.3	-	14	2265	c.2077A>G	c.(2077-2079)ACA>GCA	p.T693A	PTCH1_uc010mro.2_Missense_Mutation_p.T542A|PTCH1_uc010mrp.2_Missense_Mutation_p.T542A|PTCH1_uc010mrq.2_Missense_Mutation_p.T542A|PTCH1_uc004avl.3_Missense_Mutation_p.T542A|PTCH1_uc010mrr.2_Missense_Mutation_p.T627A|PTCH1_uc004avm.3_Missense_Mutation_p.T692A|PTCH1_uc010mrs.1_Missense_Mutation_p.T361A	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	693	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GTGTCCTGTGTCACGGTGACG	0.657									Basal_Cell_Nevus_syndrome				C	98231206	T	C	98231206	3	2	27	1	0	0	0	0	1	0	0	0	12730	1667	58	3	2306	3	PTCH1	9	98231206	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9189	98231206	42982225	4525	28476											
PTCH1	5727	broad.mit.edu	37	chr9	98232174	98232174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaattgcaggaaaaatgaGcagaaccatggcaaaattga	11	5	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:98232174G>A	uc004avk.3	-	13	1956	c.1768C>T	c.(1768-1770)CTC>TTC	p.L590F	PTCH1_uc010mro.2_Missense_Mutation_p.L439F|PTCH1_uc010mrp.2_Missense_Mutation_p.L439F|PTCH1_uc010mrq.2_Missense_Mutation_p.L439F|PTCH1_uc004avl.3_Missense_Mutation_p.L439F|PTCH1_uc010mrr.2_Missense_Mutation_p.L524F|PTCH1_uc004avm.3_Missense_Mutation_p.L589F|PTCH1_uc010mrs.1_Missense_Mutation_p.L258F	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	590	SSD.|Helical; (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGAAAAATGAGCAGAACCATG	0.458									Basal_Cell_Nevus_syndrome				A	98232174	G	A	98232174	3	1	27	1	0	0	0	0	1	0	0	0	12730	971	34	2	2619	2	PTCH1	9	98232174	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	968	98232174	42981257	4526	28477											
PTCH1	5727	broad.mit.edu	37	chr9	98242681	98242681	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggtactcactttggttgaAtttttgttgggggctgtggc	14	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:98242681A>T	uc004avk.3	-	6	1124	c.936T>A	c.(934-936)AAT>AAA	p.N312K	PTCH1_uc010mro.2_Missense_Mutation_p.N161K|PTCH1_uc010mrp.2_Missense_Mutation_p.N161K|PTCH1_uc010mrq.2_Missense_Mutation_p.N161K|PTCH1_uc004avl.3_Missense_Mutation_p.N161K|PTCH1_uc010mrr.2_Missense_Mutation_p.N246K|PTCH1_uc004avm.3_Missense_Mutation_p.N311K|PTCH1_uc010mrs.1_Missense_Mutation_p.N32K|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_RNA	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	312	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTTTGGTTGAATTTTTGTTGG	0.478									Basal_Cell_Nevus_syndrome				T	98242681	A	T	98242681	3	4	27	1	0	0	0	0	1	0	0	0	12730	98	4	5	3479	5	PTCH1	9	98242681	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	10507	98242681	42970750	4527	28478											
C9orf102	375748	broad.mit.edu	37	chr9	98678046	98678046	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aaagctttgaaatgtaatgtCcgcattggcctcactggaac	9	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:98678046C>G	uc004avt.3	+	5	1306	c.918C>G	c.(916-918)GTC>GTG	p.V306V	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Silent_p.V8V|C9orf102_uc010mry.1_Silent_p.V8V|C9orf102_uc010mrz.2_Silent_p.V117V	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	306	Helicase ATP-binding.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				AATGTAATGTCCGCATTGGCC	0.373													G	98678046	C	G	98678046	2	3	27	1	0	0	0	0	0	0	0	1	2445	842	30	5		5	C9orf102	9	98678046	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	435365	98678046	42535385	4528	28479											
C9orf102	375748	broad.mit.edu	37	chr9	98683463	98683463	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttatcttggcagatggtgTattgttctttgacagatttc	9	5	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:98683463T>C	uc004avt.3	+	7	1586	c.1198T>C	c.(1198-1200)TAT>CAT	p.Y400H	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Missense_Mutation_p.Y102H|C9orf102_uc010mry.1_Missense_Mutation_p.Y102H|C9orf102_uc010mrz.2_Missense_Mutation_p.Y211H|C9orf102_uc004avu.2_5'Flank	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	400					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				GCAGATGGTGTATTGTTCTTT	0.318													C	98683463	T	C	98683463	3	2	27	1	0	0	0	0	1	0	0	0	2445	1638	57	3	1224	3	C9orf102	9	98683463	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	5417	98683463	42529968	4529	28480											
ZNF510	22869	broad.mit.edu	37	chr9	99521344	99521344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagtgtgaattctttgatGcactctgagggttgatgtcc	11	9	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:99521344G>A	uc004awn.1	-	6	1957	c.1768C>T	c.(1768-1770)CAT>TAT	p.H590Y	ZNF510_uc004awo.1_Missense_Mutation_p.H590Y	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	590	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				ATTCTTTGATGCACTCTGAGG	0.403													A	99521344	G	A	99521344	3	1	27	1	0	0	0	0	1	0	0	0	17951	1319	46	2	287	2	ZNF510	9	99521344	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	837881	99521344	41692087	4530	28481											
ZNF510	22869	broad.mit.edu	37	chr9	99522242	99522242	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagagagttttcttatcacaAtttttcctaaattcatcatc	3	8	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:99522242A>T	uc004awn.1	-	6	1059	c.870T>A	c.(868-870)AAT>AAA	p.N290K	ZNF510_uc004awo.1_Missense_Mutation_p.N290K	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				TCTTATCACAATTTTTCCTAA	0.368													T	99522242	A	T	99522242	3	4	27	1	0	0	0	0	1	0	0	0	17951	98	4	5	1185	5	ZNF510	9	99522242	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	898	99522242	41691189	4531	28482											
KIAA1529	57653	broad.mit.edu	37	chr9	100074423	100074423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagagccaagagggaaaaaGcccgagagagtgagaacacc	13	8	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:100074423G>A	uc011lut.1	+	16	1611	c.838G>A	c.(838-840)GCC>ACC	p.A280T	KIAA1529_uc004axe.1_Missense_Mutation_p.A280T|KIAA1529_uc004axg.1_Missense_Mutation_p.A141T|KIAA1529_uc011lus.1_Missense_Mutation_p.A141T|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.A141T|KIAA1529_uc011luv.1_Missense_Mutation_p.A141T	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				GAGGGAAAAAGCCCGAGAGAG	0.562													A	100074423	G	A	100074423	3	1	27	1	0	0	0	0	1	0	0	0	8240	971	34	2	864	2	KIAA1529	9	100074423	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	552181	100074423	41139008	4532	28483											
TDRD7	23424	broad.mit.edu	37	chr9	100204028	100204028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggttcaaaatcgcataaaGgaaatactaaacaagcataa	7	6	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:100204028G>A	uc004axj.2	+	6	951	c.726G>A	c.(724-726)AAG>AAA	p.K242K	TDRD7_uc011lux.1_Silent_p.K168K	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	242	Lotus/OST-HTH 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)				ATCGCATAAAGGAAATACTAA	0.299													A	100204028	G	A	100204028	2	1	27	1	0	0	0	0	0	0	0	1	15732	991	35	4		4	TDRD7	9	100204028	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	129605	100204028	41009403	4533	28484											
TDRD7	23424	broad.mit.edu	37	chr9	100222954	100222954	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgctaatacctttatggaGgacataacagttcctccttt	7	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:100222954G>T	uc004axj.2	+	7	1575	c.1350G>T	c.(1348-1350)GAG>GAT	p.E450D	TDRD7_uc011lux.1_Missense_Mutation_p.E376D	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	450					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)				CCTTTATGGAGGACATAACAG	0.403													T	100222954	G	T	100222954	3	4	27	1	0	0	0	0	1	0	0	0	15732	991	35	5	1372	5	TDRD7	9	100222954	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	18926	100222954	40990477	4534	28485											
NCBP1	4686	broad.mit.edu	37	chr9	100403911	100403911	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagctgatcttcctaactAcaagagcaagatcttaaggc	9	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:100403911A>G	uc004axq.2	+	3	650	c.191A>G	c.(190-192)TAC>TGC	p.Y64C		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	64	MIF4G.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.158)				CTTCCTAACTACAAGAGCAAG	0.388													G	100403911	A	G	100403911	3	3	27	1	0	0	0	0	1	0	0	0	10211	391	14	3	201	3	NCBP1	9	100403911	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	180957	100403911	40809520	4535	28486											
NCBP1	4686	broad.mit.edu	37	chr9	100425241	100425241	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcattatcaaaaggtttcAtgaagtcttcaaaaccctag	5	9	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:100425241A>G	uc004axq.2	+	18	2168	c.1709A>G	c.(1708-1710)CAT>CGT	p.H570R		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	570					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.158)				AAAAGGTTTCATGAAGTCTTC	0.308													G	100425241	A	G	100425241	3	3	27	1	0	0	0	0	1	0	0	0	10211	217	8	3	1779	3	NCBP1	9	100425241	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	21330	100425241	40788190	4536	28487											
GALNT12	79695	broad.mit.edu	37	chr9	101602296	101602296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttctcaggaaccttttgggGatgtgacagagaggaagcag	14	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:101602296G>A	uc004ayz.2	+	7	1225	c.1225G>A	c.(1225-1227)GAT>AAT	p.D409N		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	N-acetylgalactosaminyltransferase 12	409	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(62;0.0559)				ACCTTTTGGGGATGTGACAGA	0.493													A	101602296	G	A	101602296	3	1	27	1	0	0	0	0	1	0	0	0	6210	1174	41	4	1251	4	GALNT12	9	101602296	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1177055	101602296	39611135	4537	28488											
COL15A1	1306	broad.mit.edu	37	chr9	101824277	101824277	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagcattcagcaacatggatGacatgctgcagaaagcgcat	10	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:101824277G>A	uc004azb.1	+	37	3633	c.3427G>A	c.(3427-3429)GAC>AAC	p.D1143N		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1143	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				CAACATGGATGACATGCTGCA	0.423													A	101824277	G	A	101824277	3	1	27	1	0	0	0	0	1	0	0	0	3672	1290	45	4	3573	4	COL15A1	9	101824277	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	221981	101824277	39389154	4538	28489											
ALG2	85365	broad.mit.edu	37	chr9	101980276	101980276	+	Frame_Shift_Del	DEL	T	T	-													gtaaatgcttcaggggaaaaTttttccttcactctggctct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:101980275_101980275AT>A	uc004azf.3	-	1	1262	c.1192_1192AT>T	c.(1192-1194)tttfs	p.F398fs	ALG2_uc004azg.3_Frame_Shift_Del_p.F305fs	NM_033087	NP_149078	Q9H553	ALG2_HUMAN	Homo sapiens asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae) (ALG2), transcript variant 1, mRNA.	398					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in endoplasmic reticulum|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein N-terminus binding|protein anchor|protein heterodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				TCAGGGGAAAATTTTTCCTTC	0.418													-	101980276	T	-	101980276	7	5	27	1	0	1	0	1	0	0	0	0	519	1490	52	0	63	0	ALG2	9	101980276	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	155999	101980276	39233155	4539	28490											
STX17	55014	broad.mit.edu	37	chr9	102730007	102730007	+	Frame_Shift_Del	DEL	A	A	-													tgaatgttgaagagggaaccAaaaacttagggaaggtaaga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:102730006_102730006CA>C	uc004bal.4	+	6	790	c.654_654CA>C	c.(652-654)accfs	p.T218fs	STX17_uc010msx.3_Non-coding_Transcript|STX17_uc011lvd.2_Non-coding_Transcript	NM_017919	NP_060389	P56962	STX17_HUMAN	Homo sapiens syntaxin 17 (STX17), mRNA.	218	t-SNARE coiled-coil homology.				intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AAGAGGGAACCAAAAACTTAG	0.448													-	102730007	A	-	102730007	7	5	27	1	0	1	0	1	0	0	0	0	15339	131	5	0	677	0	STX17	9	102730007	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	749731	102730007	38483424	4540	28491											
INVS	27130	broad.mit.edu	37	chr9	103002483	103002483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaatataacgtcttatgatAacttatttcgaaccccactg	5	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:103002483A>G	uc004bap.1	+	6	969	c.757A>G	c.(757-759)AAC>GAC	p.N253D	INVS_uc010mta.1_Missense_Mutation_p.N157D|INVS_uc011lve.1_Missense_Mutation_p.N157D|INVS_uc004bao.1_Missense_Mutation_p.N253D|INVS_uc004baq.1_Missense_Mutation_p.N157D|INVS_uc004bar.1_Missense_Mutation_p.N157D|INVS_uc010mtb.1_Translation_Start_Site	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	253					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				GTCTTATGATAACTTATTTCG	0.428													G	103002483	A	G	103002483	3	3	27	1	0	0	0	0	1	0	0	0	7787	362	13	3	775	3	INVS	9	103002483	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	272476	103002483	38210948	4541	28492											
INVS	27130	broad.mit.edu	37	chr9	103054911	103054911	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggccaaatgtgccccccAgaaaaggcgcactcaagagc	10	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:103054911A>G	uc004bap.1	+	14	2584	c.2372A>G	c.(2371-2373)CAG>CGG	p.Q791R	INVS_uc011lve.1_Missense_Mutation_p.Q695R|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Missense_Mutation_p.Q695R|INVS_uc010mtb.1_Missense_Mutation_p.Q465R	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	791					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				TGTGCCCCCCAGAAAAGGCGC	0.647													G	103054911	A	G	103054911	3	3	27	1	0	0	0	0	1	0	0	0	7787	188	7	3	2422	3	INVS	9	103054911	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	52428	103054911	38158520	4542	28493											
INVS	27130	broad.mit.edu	37	chr9	103054982	103054982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagccgccctggcagtgccCggggggaggcggtccatgct	17	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:103054982C>T	uc004bap.1	+	14	2655	c.2443C>T	c.(2443-2445)CGG>TGG	p.R815W	INVS_uc011lve.1_Missense_Mutation_p.R719W|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Missense_Mutation_p.R719W|INVS_uc010mtb.1_Missense_Mutation_p.R489W	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	815					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				TGGCAGTGCCCGGGGGGAGGC	0.587													T	103054982	C	T	103054982	3	4	27	1	0	0	0	0	1	0	0	0	7787	643	23	1	2493	1	INVS	9	103054982	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	71	103054982	38158449	4543	28494											
INVS	27130	broad.mit.edu	37	chr9	103055045	103055045	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacaccaagaaacaaagtgAcacaagccaagctcacagga	8	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:103055045A>G	uc004bap.1	+	14	2718	c.2506A>G	c.(2506-2508)ACA>GCA	p.T836A	INVS_uc011lve.1_Missense_Mutation_p.T740A|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Missense_Mutation_p.T740A|INVS_uc010mtb.1_Missense_Mutation_p.T510A	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	836					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				AAACAAAGTGACACAAGCCAA	0.592													G	103055045	A	G	103055045	3	3	27	1	0	0	0	0	1	0	0	0	7787	275	10	3	2556	3	INVS	9	103055045	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	63	103055045	38158386	4544	28495											
TEX10	54881	broad.mit.edu	37	chr9	103102604	103102604	+	Frame_Shift_Del	DEL	A	A	-													acatatggaaaacgactcatAaaatggtgtttaaaatcaat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:103102603_103102603TA>T	uc004bas.3	-	4	1401	c.1186_1186TA>A	c.(1186-1188)atgfs	p.M396fs	TEX10_uc011lvf.2_Frame_Shift_Del_p.M235fs|TEX10_uc011lvg.2_Frame_Shift_Del_p.M399fs|TEX10_uc011lvh.1_Frame_Shift_Del_p.M331fs	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA.	396						MLL1 complex|integral to membrane|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		AAACGACTCATAAAATGGTGT	0.284													-	103102604	A	-	103102604	7	5	27	1	0	1	0	1	0	0	0	0	15769	359	13	0	1648	0	TEX10	9	103102604	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	47559	103102604	38110827	4545	28496											
TEX10	54881	broad.mit.edu	37	chr9	103109393	103109393	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaaaacttttaaagagTcctcctgaattccttcagta	5	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:103109393T>A	uc004bas.2	-	3	691	c.476A>T	c.(475-477)GAC>GTC	p.D159V	TEX10_uc011lvf.1_Intron|TEX10_uc011lvg.1_Missense_Mutation_p.D162V|TEX10_uc011lvh.1_Missense_Mutation_p.D94V|TEX10_uc004bat.2_Missense_Mutation_p.D159V	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10 isoform 1	159						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTTTAAAGAGTCCTCCTGAAT	0.403													A	103109393	T	A	103109393	3	1	27	1	0	0	0	0	1	0	0	0	15769	1667	58	5	2365	5	TEX10	9	103109393	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	6789	103109393	38104038	4546	28497											
LPPR1	54886	broad.mit.edu	37	chr9	104048518	104048518	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaggatcataagattcacaGgtgagtacaagatggtgctg	13	5	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:104048518G>T	uc004bbb.2	+	4	784	c.385G>T	c.(385-387)GGG>TGG	p.G129W	LPPR1_uc011lvi.1_Missense_Mutation_p.G105W|LPPR1_uc004bbc.2_Missense_Mutation_p.G129W|LPPR1_uc010mtc.2_Missense_Mutation_p.G113W	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	plasticity related gene 3	129	Helical; (Potential).					integral to membrane	catalytic activity				0						AAGATTCACAGGTGAGTACAA	0.368													T	104048518	G	T	104048518	3	4	27	1	0	0	0	0	1	0	0	0	8924	1014	35	5	395	5	LPPR1	9	104048518	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	939125	104048518	37164913	4547	28498											
RNF20	56254	broad.mit.edu	37	chr9	104312974	104312974	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttctccgtcttgtataaTgagagcctacagttgaaagc	9	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:104312974T>C	uc004bbn.2	+	10	1269	c.1179T>C	c.(1177-1179)AAT>AAC	p.N393N		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	393					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TCTTGTATAATGAGAGCCTAC	0.512													C	104312974	T	C	104312974	2	2	27	1	0	0	0	0	0	0	0	1	13473	1461	51	3		3	RNF20	9	104312974	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	264456	104312974	36900457	4548	28499											
RNF20	56254	broad.mit.edu	37	chr9	104324610	104324610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgtcttctgctttgagtGtgtgaagacacgctatgaca	10	8	3	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:104324610G>A	uc004bbn.2	+	20	2924	c.2834G>A	c.(2833-2835)TGT>TAT	p.C945Y		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	945	RING-type.				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TGCTTTGAGTGTGTGAAGACA	0.438													A	104324610	G	A	104324610	3	1	27	1	0	0	0	0	1	0	0	0	13473	1377	48	4	2908	4	RNF20	9	104324610	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	11636	104324610	36888821	4549	28500											
PPP3R2	5535	broad.mit.edu	37	chr9	104356949	104356949	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacttctgctcctcgtcgccCttgacgctgaactgggaggt	11	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:104356949C>A	uc004bbr.2	-	1	335	c.264G>T	c.(262-264)AAG>AAT	p.K88N	GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	protein phosphatase 3 regulatory subunit B, beta	85	EF-hand 2.						calcium ion binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	CCTCGTCGCCCTTGACGCTGA	0.537													A	104356949	C	A	104356949	3	1	27	1	0	0	0	0	1	0	0	0	12401	680	24	5	261	5	PPP3R2	9	104356949	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	32339	104356949	36856482	4550	28501											
GRIN3A	116443	broad.mit.edu	37	chr9	104385604	104385604	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgactgattaataccttcTatggcaaatggcttccccac	7	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:104385604T>C	uc004bbp.1	-	5	3211	c.2610A>G	c.(2608-2610)ATA>ATG	p.I870M	GRIN3A_uc004bbq.1_Missense_Mutation_p.I870M	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	870	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TAATACCTTCTATGGCAAATG	0.423													C	104385604	T	C	104385604	3	2	27	1	0	0	0	0	1	0	0	0	6783	1512	53	3	757	3	GRIN3A	9	104385604	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	28655	104385604	36827827	4551	28502											
GRIN3A	116443	broad.mit.edu	37	chr9	104385638	104385638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccacagtgagaagtttgCagtcagcatctattgacact	8	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:104385638C>T	uc004bbp.1	-	5	3177	c.2576G>A	c.(2575-2577)TGC>TAC	p.C859Y	GRIN3A_uc004bbq.1_Missense_Mutation_p.C859Y	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	859	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GAGAAGTTTGCAGTCAGCATC	0.418													T	104385638	C	T	104385638	3	4	27	1	0	0	0	0	1	0	0	0	6783	710	25	2	791	2	GRIN3A	9	104385638	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	34	104385638	36827793	4552	28503											
CYLC2	1539	broad.mit.edu	37	chr9	105767460	105767460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaatctgaagatgaaaaaGgaggtgcaaagaaagataac	11	4	1	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:105767460G>A	uc004bbs.2	+	5	617	c.547G>A	c.(547-549)GGA>AGA	p.G183R		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	183	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.|1.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)				agatgaaaaaggaggtgcaaa	0.129													A	105767460	G	A	105767460	3	1	27	1	0	0	0	0	1	0	0	0	4142	1001	35	4	565	4	CYLC2	9	105767460	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1381822	105767460	35445971	4553	28504											
SMC2	10592	broad.mit.edu	37	chr9	106900323	106900323	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagtggccttgtcattaatActgtccatgcttctcttcaa	6	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:106900323A>G	uc004bbv.2	+	24	3582	c.3294A>G	c.(3292-3294)ATA>ATG	p.I1098M	SMC2_uc004bbw.2_Missense_Mutation_p.I1098M|SMC2_uc011lvl.1_Missense_Mutation_p.I1098M|SMC2_uc004bbx.2_Missense_Mutation_p.I1098M|SMC2_uc004bby.2_RNA	NM_001042551	NP_001036016	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1098	Ala/Asp-rich (DA-box).				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						TGTCATTAATACTGTCCATGC	0.373													G	106900323	A	G	106900323	3	3	27	1	0	0	0	0	1	0	0	0	14783	381	14	3	3384	3	SMC2	9	106900323	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1132863	106900323	34313108	4554	28505											
OR13F1	138805	broad.mit.edu	37	chr9	107266759	107266759	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcctttctggacatctgGtactcctcttctgccctctc	5	17	6	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:107266759G>A	uc011lvm.1	+	1	216	c.216G>A	c.(214-216)TGG>TGA	p.W72*		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)|skin(1)	3						TGGACATCTGGTACTCCTCTT	0.488													A	107266759	G	A	107266759	4	1	27	1	0	0	0	0	0	1	0	0	10941	1270	44	4	218	4	OR13F1	9	107266759	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	366436	107266759	33946672	4555	28506											
OR13F1	138805	broad.mit.edu	37	chr9	107267453	107267453	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagtggccttgaaaaaaTtgctgattagaaatcatttt	8	4	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:107267453T>A	uc011lvm.1	+	1	910	c.910T>A	c.(910-912)TTG>ATG	p.L304M		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F,	304	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)|skin(1)	3						CTTGAAAAAATTGCTGATTAG	0.358													A	107267453	T	A	107267453	3	1	27	1	0	0	0	0	1	0	0	0	10941	1490	52	5	912	5	OR13F1	9	107267453	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	694	107267453	33945978	4556	28507											
OR13C4	138804	broad.mit.edu	37	chr9	107289076	107289076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcagcagtacatacaccaCcttgttcatgatgatggggt	10	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:107289076C>T	uc011lvn.1	-	1	415	c.415G>A	c.(415-417)GTG>ATG	p.V139M		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						ACATACACCACCTTGTTCATG	0.458													T	107289076	C	T	107289076	3	4	27	1	0	0	0	0	1	0	0	0	10936	507	18	4	543	4	OR13C4	9	107289076	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	21623	107289076	33924355	4557	28508											
OR13C4	138804	broad.mit.edu	37	chr9	107289113	107289113	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gggtatctcagagggttacaGatggccacataacgatcaaa	11	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:107289113G>C	uc011lvn.1	-	1	378	c.378C>G	c.(376-378)ATC>ATG	p.I126M		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GAGGGTTACAGATGGCCACAT	0.453													C	107289113	G	C	107289113	3	2	27	1	0	0	0	0	1	0	0	0	10936	932	33	5	580	5	OR13C4	9	107289113	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	37	107289113	33924318	4558	28509											
OR13C5	138799	broad.mit.edu	37	chr9	107361037	107361037	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgctcaaaatgattaAcgtgtaagagacaataatta	8	4	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:107361037A>T	uc011lvp.1	-	1	658	c.658T>A	c.(658-660)TTA>ATA	p.L220I		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C,	220	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4						AAAATGATTAACGTGTAAGAG	0.433													T	107361037	A	T	107361037	3	4	27	1	0	0	0	0	1	0	0	0	10937	40	2	5	300	5	OR13C5	9	107361037	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	71924	107361037	33852394	4559	28510											
OR13D1	286365	broad.mit.edu	37	chr9	107457074	107457074	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgtctgagagaaaatccatCtccttcattggctgtgctct	8	10	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:107457074C>A	uc011lvs.1	+	1	372	c.372C>A	c.(370-372)ATC>ATA	p.I124I		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D,	124	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GAAAATCCATCTCCTTCATTG	0.458													A	107457074	C	A	107457074	2	1	27	1	0	0	0	0	0	0	0	1	10940	903	32	5		5	OR13D1	9	107457074	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	96037	107457074	33756357	4560	28511											
NIPSNAP3B	55335	broad.mit.edu	37	chr9	107535336	107535336	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcttctgattcctgcatcAttttcaccattgaaatagtt	5	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:107535336A>G	uc004bci.2	+	6	797	c.726A>G	c.(724-726)TCA>TCG	p.S242S	NIPSNAP3B_uc004bcj.1_RNA|LOC286367_uc004bck.3_5'Flank	NM_018376	NP_060846	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B	242										pancreas(1)|skin(1)	2						TTCCTGCATCATTTTCACCAT	0.358													G	107535336	A	G	107535336	2	3	27	1	0	0	0	0	0	0	0	1	10431	204	8	3		3	NIPSNAP3B	9	107535336	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	78262	107535336	33678095	4561	28512											
ZNF462	58499	broad.mit.edu	37	chr9	109687976	109687976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagccacccacacaagccGcacctctgcacccatacaaa	4	20	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:109687976G>A	uc004bcz.2	+	3	2072	c.1783G>A	c.(1783-1785)GCA>ACA	p.A595T	ZNF462_uc010mto.2_Missense_Mutation_p.A443T|ZNF462_uc004bda.2_Missense_Mutation_p.A443T	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	595					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						CACACAAGCCGCACCTCTGCA	0.547													A	109687976	G	A	109687976	3	1	27	1	0	0	0	0	1	0	0	0	17923	1087	38	1	1789	1	ZNF462	9	109687976	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2152640	109687976	31525455	4562	28513											
ACTL7B	10880	broad.mit.edu	37	chr9	111617647	111617647	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccgaggtcttgccgtaGgagtagatggacagcaacga	14	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:111617647G>A	uc004bdi.2	-	1	629	c.564C>T	c.(562-564)TCC>TCT	p.S188S		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	188						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						TCTTGCCGTAGGAGTAGATGG	0.662													A	111617647	G	A	111617647	2	1	27	1	0	0	0	0	0	0	0	1	201	987	35	4		4	ACTL7B	9	111617647	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1929671	111617647	29595784	4563	28514											
ACTL7B	10880	broad.mit.edu	37	chr9	111617817	111617817	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggcggtgcggaagatgtActcccagatgtcctgcacgc	13	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:111617817A>G	uc004bdi.2	-	1	459	c.394T>C	c.(394-396)TAC>CAC	p.Y132H		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	132						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						CGGAAGATGTACTCCCAGATG	0.642													G	111617817	A	G	111617817	3	3	27	1	0	0	0	0	1	0	0	0	201	391	14	3	857	3	ACTL7B	9	111617817	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	170	111617817	29595614	4564	28515											
ACTL7A	10881	broad.mit.edu	37	chr9	111625473	111625473	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggatcccattgaggagaagAaagtccctctcagtgagcat	11	9	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:111625473A>G	uc004bdj.1	+	1	871	c.871A>G	c.(871-873)AAA>GAA	p.K291E		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	291						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0						TGAGGAGAAGAAAGTCCCTCT	0.542													G	111625473	A	G	111625473	3	3	27	1	0	0	0	0	1	0	0	0	200	247	9	3	873	3	ACTL7A	9	111625473	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	7656	111625473	29587958	4565	28516											
ACTL7A	10881	broad.mit.edu	37	chr9	111625641	111625641	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtcctgccttaacaagtgtGacatcgccctcaaacgggac	9	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:111625641G>A	uc004bdj.1	+	1	1039	c.1039G>A	c.(1039-1041)GAC>AAC	p.D347N		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	347						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0						TAACAAGTGTGACATCGCCCT	0.572													A	111625641	G	A	111625641	3	1	27	1	0	0	0	0	1	0	0	0	200	1290	45	4	1041	4	ACTL7A	9	111625641	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	168	111625641	29587790	4566	28517											
C9orf6	54942	broad.mit.edu	37	chr9	111697919	111697919	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactcatgtattcttctagaTgtcaaaggaaaattttgtga	8	5	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:111697919T>C	uc004bdn.2	+	2	175	c.81T>C	c.(79-81)GAT>GAC	p.D27D	IKBKAP_uc004bdm.3_5'Flank|IKBKAP_uc011lwc.1_5'Flank|IKBKAP_uc010mtq.2_5'Flank|C9orf6_uc010mtr.2_RNA	NM_017832	NP_060302	Q9NX38	CI006_HUMAN	hypothetical protein LOC54942	27					glycine catabolic process	glycine cleavage complex				pancreas(1)	1		Myeloproliferative disorder(63;0.0511)		OV - Ovarian serous cystadenocarcinoma(323;9.58e-07)		TTCTTCTAGATGTCAAAGGAA	0.333													C	111697919	T	C	111697919	2	2	27	1	0	0	0	0	0	0	0	1	2488	1478	51	3		3	C9orf6	9	111697919	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	72278	111697919	29515512	4567	28518											
C9orf4	23732	broad.mit.edu	37	chr9	111911987	111911987	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatccacaggaggagcagtAgggaaggggtaacctgggca	18	7	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:111911987A>G	uc004bdw.1	-	2	405	c.405T>C	c.(403-405)CCT>CCC	p.P135P		NM_014334	NP_055149	Q9P0K9	CI004_HUMAN	hypothetical protein LOC23732	135						integral to membrane					0						GAGGAGCAGTAGGGAAGGGGT	0.408													G	111911987	A	G	111911987	2	3	27	1	0	0	0	0	0	0	0	1	2480	407	15	3		3	C9orf4	9	111911987	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	214068	111911987	29301444	4568	28519											
EPB41L4B	54566	broad.mit.edu	37	chr9	112029765	112029765	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcctaccttgtaaactccTcacgaaggttgtttggttct	9	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:112029765T>C	uc004bdz.1	-	4	816	c.521A>G	c.(520-522)GAG>GGG	p.E174G	EPB41L4B_uc004bea.2_Missense_Mutation_p.E174G	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	174	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						TGTAAACTCCTCACGAAGGTT	0.438													C	112029765	T	C	112029765	3	2	27	1	0	0	0	0	1	0	0	0	5156	1551	54	3	2425	3	EPB41L4B	9	112029765	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	117778	112029765	29183666	4569	28520											
PTPN3	5774	broad.mit.edu	37	chr9	112225670	112225670	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtaactccgaggtgcgTatattattaattcttccacc	8	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:112225670T>C	uc004bed.2	-	2	157	c.45A>G	c.(43-45)ATA>ATG	p.I15M	PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.I15M|PTPN3_uc011lwh.1_Translation_Start_Site|PTPN3_uc004bee.3_Missense_Mutation_p.I15M	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	15					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						CCGAGGTGCGTATATTATTAA	0.398													C	112225670	T	C	112225670	3	2	27	1	0	0	0	0	1	0	0	0	12789	1628	57	3	2796	3	PTPN3	9	112225670	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	195905	112225670	28987761	4570	28521											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112898690	112898690	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agagatccgctatctagatgAggtgctagaggccaactgct	12	9	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:112898690A>T	uc004bei.2	+	9	1754	c.1562A>T	c.(1561-1563)GAG>GTG	p.E521V	PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.E289V|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.E289V|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.E99V|AKAP2_uc011lwi.1_Missense_Mutation_p.E147V|AKAP2_uc004bem.2_Missense_Mutation_p.E147V|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.E107V|AKAP2_uc011lwj.1_Missense_Mutation_p.E58V|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.E58V	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	58							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						TATCTAGATGAGGTGCTAGAG	0.537													T	112898690	A	T	112898690	3	4	27	1	0	0	0	0	1	0	0	0	11410	304	11	5	896	5	PALM2-AKAP2	9	112898690	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	673020	112898690	28314741	4571	28522											
SVEP1	79987	broad.mit.edu	37	chr9	113169574	113169574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatgaaatggcttcacagCgtggggaggcaccactccac	12	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:113169574C>T	uc010mtz.2	-	38	8643	c.8306G>A	c.(8305-8307)CGC>CAC	p.R2769H	SVEP1_uc010mty.2_Missense_Mutation_p.R695H	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2769	Sushi 22.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GGCTTCACAGCGTGGGGAGGC	0.463													T	113169574	C	T	113169574	3	4	27	1	0	0	0	0	1	0	0	0	15417	768	27	1	2453	1	SVEP1	9	113169574	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	270884	113169574	28043857	4572	28523											
LPAR1	1902	broad.mit.edu	37	chr9	113637717	113637717	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgttctaaaccacagagtggTcattgctgtgaactccagcc	9	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:113637717T>A	uc004bfa.2	-	5	1334	c.1079A>T	c.(1078-1080)GAC>GTC	p.D360V	LPAR1_uc011lwm.1_Missense_Mutation_p.D361V|LPAR1_uc004bfb.2_Missense_Mutation_p.D360V|LPAR1_uc004bfc.2_Missense_Mutation_p.D360V|LPAR1_uc011lwn.1_Missense_Mutation_p.D342V|LPAR1_uc011lwo.1_Missense_Mutation_p.D361V|LPAR1_uc010mub.2_Missense_Mutation_p.D360V	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	360	Cytoplasmic (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				ovary(2)	2						CACAGAGTGGTCATTGCTGTG	0.587													A	113637717	T	A	113637717	3	1	27	1	0	0	0	0	1	0	0	0	8904	1667	58	5	19	5	LPAR1	9	113637717	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	468143	113637717	27575714	4573	28524											
KIAA0368	23392	broad.mit.edu	37	chr9	114134086	114134086	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtaattaactcctgcaggtAtaatcgaatgccaccaaagg	8	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:114134086A>T	uc004bfe.1	-	44	5086	c.5086T>A	c.(5086-5088)TAC>AAC	p.Y1696N		NM_001080398	NP_001073867			KIAA0368 protein												0						TCCTGCAGGTATAATCGAATG	0.373													T	114134086	A	T	114134086	3	4	27	1	0	0	0	0	1	0	0	0	8171	449	16	5	999	5	KIAA0368	9	114134086	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	496369	114134086	27079345	4574	28525											
ZNF483	158399	broad.mit.edu	37	chr9	114305075	114305075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacttttagccattttacGtctgtgatttatcatcaaag	6	7	3	2	rs142830150		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:114305075G>A	uc004bff.2	+	6	2084	c.1860G>A	c.(1858-1860)ACG>ACA	p.T620T	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	620	C2H2-type 7.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						GCCATTTTACGTCTGTGATTT	0.408													A	114305075	G	A	114305075	2	1	27	1	0	0	0	0	0	0	0	1	17933	1132	40	1		1	ZNF483	9	114305075	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	170989	114305075	26908356	4575	28526											
PTGR1	22949	broad.mit.edu	37	chr9	114337052	114337052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgttatatgtagagatgGctccacatatggcaatcctt	8	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:114337052G>A	uc004bfh.2	-	8	825	c.722C>T	c.(721-723)GCC>GTC	p.A241V	ZNF483_uc004bfg.2_Intron|PTGR1_uc011lwr.1_Missense_Mutation_p.A241V|PTGR1_uc004bfi.3_Missense_Mutation_p.A241V|PTGR1_uc004bfj.3_Missense_Mutation_p.A118V|PTGR1_uc010mue.2_Missense_Mutation_p.A241V	NM_012212	NP_036344	Q14914	PTGR1_HUMAN	prostaglandin reductase 1 isoform 1	241	NADP.				leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding				0						TGTAGAGATGGCTCCACATAT	0.433													A	114337052	G	A	114337052	3	1	27	1	0	0	0	0	1	0	0	0	12753	1203	42	2	310	2	PTGR1	9	114337052	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	31977	114337052	26876379	4576	28527											
C9orf84	158401	broad.mit.edu	37	chr9	114456540	114456540	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaactttaagccaggattTatccaaccattcatgaggat	7	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:114456540T>C	uc004bfr.2	-	23	3229	c.3094A>G	c.(3094-3096)AAA>GAA	p.K1032E	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.K993E|C9orf84_uc010mug.2_Missense_Mutation_p.K943E	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	1032										ovary(2)	2						AGCCAGGATTTATCCAACCAT	0.338													C	114456540	T	C	114456540	3	2	27	1	0	0	0	0	1	0	0	0	2500	1763	61	3	1256	3	C9orf84	9	114456540	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	119488	114456540	26756891	4577	28528											
HSDL2	84263	broad.mit.edu	37	chr9	115166290	115166290	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggaggctggcaggatgTacagtttttatcacaggtgc	14	6	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:115166290T>C	uc004bga.1	+	2	126	c.33T>C	c.(31-33)TGT>TGC	p.C11C	HSDL2_uc011lwv.1_Intron|HSDL2_uc004bgb.1_5'UTR|HSDL2_uc004bgc.1_Silent_p.C11C|HSDL2_uc011lww.1_5'UTR	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	11						peroxisome	oxidoreductase activity|sterol binding				0						TGGCAGGATGTACAGTTTTTA	0.413													C	115166290	T	C	115166290	2	2	27	1	0	0	0	0	0	0	0	1	7394	1644	57	3		3	HSDL2	9	115166290	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	709750	115166290	26047141	4578	28529											
SNX30	401548	broad.mit.edu	37	chr9	115600867	115600867	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacccctggagggtgtgTcagcttgcattgggaactgc	14	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:115600867T>A	uc004bgj.3	+	6	1052	c.904T>A	c.(904-906)TCA>ACA	p.S302T	SNX30_uc004bgi.3_5'UTR	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	302					cell communication|protein transport	cytoplasm	phosphatidylinositol binding				0						GGAGGGTGTGTCAGCTTGCAT	0.512													A	115600867	T	A	115600867	3	1	27	1	0	0	0	0	1	0	0	0	14900	1667	58	5	926	5	SNX30	9	115600867	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	434577	115600867	25612564	4579	28530											
SNX30	401548	broad.mit.edu	37	chr9	115626531	115626531	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcctcccttttccaggtacCggcggacgtcgagaaatgtc	11	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:115626531C>A	uc004bgj.3	+	8	1254	c.1106C>A	c.(1105-1107)CCG>CAG	p.P369Q	SNX30_uc004bgi.3_Missense_Mutation_p.P51Q	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	369					cell communication|protein transport	cytoplasm	phosphatidylinositol binding				0						TTCCAGGTACCGGCGGACGTC	0.542													A	115626531	C	A	115626531	3	1	27	1	0	0	0	0	1	0	0	0	14900	652	23	5	1136	5	SNX30	9	115626531	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	25664	115626531	25586900	4580	28531											
FKBP15	23307	broad.mit.edu	37	chr9	115931875	115931875	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaattgaagtcgggggcccTagaactctgtgggatgggat	17	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:115931875T>C	uc004bgs.2	-	26	3232	c.3114A>G	c.(3112-3114)CTA>CTG	p.L1038L	FKBP15_uc004bgr.2_Silent_p.L475L|FKBP15_uc011lxc.1_Silent_p.L619L|FKBP15_uc011lxd.1_Silent_p.L970L	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1038					endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3						TCGGGGGCCCTAGAACTCTGT	0.557													C	115931875	T	C	115931875	2	2	27	1	0	0	0	0	0	0	0	1	5905	1509	53	3		3	FKBP15	9	115931875	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	305344	115931875	25281556	4581	28532											
FKBP15	23307	broad.mit.edu	37	chr9	115936846	115936846	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctcttgagctgacttcttTttcctttctgagaggttctt	8	10	4	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:115936846T>C	uc004bgs.2	-	22	2359	c.2241A>G	c.(2239-2241)AAA>AAG	p.K747K	FKBP15_uc004bgr.2_Silent_p.K184K|FKBP15_uc011lxc.1_Silent_p.K328K|FKBP15_uc011lxd.1_Silent_p.K679K	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	747	Potential.				endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3						CTGACTTCTTTTTCCTTTCTG	0.438													C	115936846	T	C	115936846	2	2	27	1	0	0	0	0	0	0	0	1	5905	1838	64	3		3	FKBP15	9	115936846	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4971	115936846	25276585	4582	28533											
PRPF4	9128	broad.mit.edu	37	chr9	116049018	116049018	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggagcaattgtattccAtcccaaatccactgtctcct	6	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:116049018A>G	uc004bgx.2	+	9	895	c.845A>G	c.(844-846)CAT>CGT	p.H282R	PRPF4_uc004bgy.2_Missense_Mutation_p.H281R	NM_004697	NP_004688	O43172	PRP4_HUMAN	PRP4 pre-mRNA processing factor 4 homolog	282	WD 2.			NVGAIVFH -> KKEQLHSI (in Ref. 3; AAC02261).		Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			ovary(2)|pancreas(1)	3						ATTGTATTCCATCCCAAATCC	0.443													G	116049018	A	G	116049018	3	3	27	1	0	0	0	0	1	0	0	0	12570	217	8	3	879	3	PRPF4	9	116049018	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	112172	116049018	25164413	4583	28534											
ALAD	210	broad.mit.edu	37	chr9	116151752	116151752	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgcacgatgtccaggtagGgcattcccggcttcaccatg	11	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:116151752G>T	uc011lxf.1	-	10	969	c.767C>A	c.(766-768)CCC>CAC	p.P256H	ALAD_uc011lxe.1_Missense_Mutation_p.P239H|ALAD_uc004bhl.3_Missense_Mutation_p.P285H	NM_000031	NP_000022	P13716	HEM2_HUMAN	delta-aminolevulinic acid dehydratase	256					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding				0					Aminolevulinic acid(DB00855)	GTCCAGGTAGGGCATTCCCGG	0.587													T	116151752	G	T	116151752	3	4	27	1	0	0	0	0	1	0	0	0	483	1232	43	5	237	5	ALAD	9	116151752	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	102734	116151752	25061679	4584	28535											
RGS3	5998	broad.mit.edu	37	chr9	116359109	116359109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagagcgtcacgcgggGctgcttcgacctggcacaga	14	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:116359109G>A	uc004bhq.2	+	26	3682	c.3473G>A	c.(3472-3474)GGC>GAC	p.G1158D	RGS3_uc004bhs.2_Missense_Mutation_p.G1048D|RGS3_uc004bht.2_Missense_Mutation_p.G877D|RGS3_uc010muy.2_Missense_Mutation_p.G551D|RGS3_uc004bhv.2_Missense_Mutation_p.G479D|RGS3_uc004bhw.2_Missense_Mutation_p.G128D|RGS3_uc011lxh.1_Missense_Mutation_p.G468D|RGS3_uc004bhx.2_Missense_Mutation_p.G479D|RGS3_uc004bhz.2_Missense_Mutation_p.G500D|RGS3_uc004bia.2_Missense_Mutation_p.G271D	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	1158	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						GTCACGCGGGGCTGCTTCGAC	0.602													A	116359109	G	A	116359109	3	1	27	1	0	0	0	0	1	0	0	0	13306	1203	42	2	4247	2	RGS3	9	116359109	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	207357	116359109	24854322	4585	28536											
PAPPA	5069	broad.mit.edu	37	chr9	119065092	119065093	+	Frame_Shift_Ins	INS	-	-	A													ggtatgtgaggagtttgaacINSaaaaaaccagcattaaggac							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:119065092_119065093insA	uc004bjn.2	+	10	3391_3392	c.3010_3011insA	c.(3010-3012)CAAfs	p.Q1004fs	PAPPA_uc011lxp.1_Frame_Shift_Ins_p.Q699fs|PAPPA_uc011lxq.1_Frame_Shift_Ins_p.Q379fs	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1004					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						GGAGTTTGAACAAAAAACCAGC	0.446													A	119065093	-	A	119065092	7	5	27	1	0	1	1	0	0	0	0	0	11432	479	17	0	3048	0	PAPPA	9	119065092	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	2705983	119065092	22148339	4586	28537	98	2									
PAPPA	5069	broad.mit.edu	37	chr9	119065093	119065094	+	Frame_Shift_Ins	INS	-	-	A													gtatgtgaggagtttgaacaINSaaaaaccagcattaaggact							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:119065092_119065093C>CA	uc004bjn.3	+	9	3391_3392	c.3010_3011C>CA	c.(3010-3012)caafs	p.Q1004fs	PAPPA_uc011lxp.1_Frame_Shift_Ins_p.Q699fs|PAPPA_uc011lxq.2_Frame_Shift_Ins_p.Q379fs	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1004					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGAGTTTGAACAAAAAACCAGC	0.446													A	119065094	-	A	119065093	7	5	27	1	0	1	1	0	0	0	0	0	11432	130	5	0	3049	0	PAPPA	9	119065093	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	1	119065093	22148338	4587	28538	98	2									
ASTN2	23245	broad.mit.edu	37	chr9	119414057	119414057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgagctccttcttgctgCccagctctgtggtctctgga	10	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:119414057C>T	uc004bjs.1	-	17	2923	c.2822G>A	c.(2821-2823)GGC>GAC	p.G941D	ASTN2_uc004bjr.1_Missense_Mutation_p.G937D|ASTN2_uc004bjt.1_Missense_Mutation_p.G890D|ASTN2_uc004bjp.1_Missense_Mutation_p.G34D|ASTN2_uc004bjq.1_5'UTR|ASTN2_uc011lxr.1_5'UTR|ASTN2_uc011lxs.1_5'UTR|ASTN2_uc011lxt.1_5'UTR|ASTN2_uc004bjv.1_5'UTR	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	941	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						CTTCTTGCTGCCCAGCTCTGT	0.493													T	119414057	C	T	119414057	3	4	27	1	0	0	0	0	1	0	0	0	1065	739	26	2	1344	2	ASTN2	9	119414057	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	348964	119414057	21799374	4588	28539											
TRIM32	22954	broad.mit.edu	37	chr9	119460783	119460783	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcagatgtagcactactGgaggagacagctgatgagga	15	7	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:119460783G>A	uc004bjx.2	+	2	920	c.762G>A	c.(760-762)CTG>CTA	p.L254L	ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Silent_p.L254L	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN	tripartite motif-containing 32	254					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|kidney(1)	3						TAGCACTACTGGAGGAGACAG	0.552									Bardet-Biedl_syndrome				A	119460783	G	A	119460783	2	1	27	1	0	0	0	0	0	0	0	1	16503	1335	47	4		4	TRIM32	9	119460783	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	46726	119460783	21752648	4589	28540											
ASTN2	23245	broad.mit.edu	37	chr9	119488179	119488179	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggatgaaggacagcaGctcctcccgactgctctcct	11	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:119488179G>T	uc004bjs.1	-	16	2778	c.2677C>A	c.(2677-2679)CTG>ATG	p.L893M	ASTN2_uc004bjr.1_Missense_Mutation_p.L889M|ASTN2_uc004bjt.1_Missense_Mutation_p.L842M	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	893	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						AAGGACAGCAGCTCCTCCCGA	0.557													T	119488179	G	T	119488179	3	4	27	1	0	0	0	0	1	0	0	0	1065	962	34	5	1606	5	ASTN2	9	119488179	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	27396	119488179	21725252	4590	28541											
ASTN2	23245	broad.mit.edu	37	chr9	119582989	119582989	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagccgccattaaagccaTcagagcagtcaatgcctttg	8	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:119582989T>C	uc004bjs.1	-	12	2215	c.2114A>G	c.(2113-2115)GAT>GGT	p.D705G	ASTN2_uc004bjr.1_Missense_Mutation_p.D701G|ASTN2_uc004bjt.1_Missense_Mutation_p.D654G	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	705	Extracellular (Potential).|EGF-like 3.					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						ATTAAAGCCATCAGAGCAGTC	0.582													C	119582989	T	C	119582989	3	2	27	1	0	0	0	0	1	0	0	0	1065	1435	50	3	2185	3	ASTN2	9	119582989	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	94810	119582989	21630442	4591	28542											
TLR4	7099	broad.mit.edu	37	chr9	120476261	120476261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagataagcagggcatgCctgtgctgagtttgaatatc	11	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:120476261C>T	uc004bjz.2	+	3	2146	c.1855C>T	c.(1855-1857)CCT>TCT	p.P619S	TLR4_uc004bka.2_Missense_Mutation_p.P579S|TLR4_uc004bkb.2_Missense_Mutation_p.P419S	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	619	LRRCT.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						GCAGGGCATGCCTGTGCTGAG	0.468													T	120476261	C	T	120476261	3	4	27	1	0	0	0	0	1	0	0	0	15950	739	26	2	1865	2	TLR4	9	120476261	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	893272	120476261	20737170	4592	28543											
DBC1	1620	broad.mit.edu	37	chr9	121971132	121971132	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtagcggttctgcaggTcccagtcattgccccagtgc	12	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:121971132T>C	uc004bkc.2	-	7	1466	c.1010A>G	c.(1009-1011)GAC>GGC	p.D337G		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	337					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						GTTCTGCAGGTCCCAGTCATT	0.537													C	121971132	T	C	121971132	3	2	27	1	0	0	0	0	1	0	0	0	4247	1667	58	3	1283	3	DBC1	9	121971132	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1494871	121971132	19242299	4593	28544											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123210340	123210340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctgggtggcagggagaCgatacatatttcctaatgac	11	10	0	2	rs149193447	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:123210340C>T	uc004bkf.2	-	22	3039	c.2858G>A	c.(2857-2859)CGT>CAT	p.R953H	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.R3H|CDK5RAP2_uc004bke.2_Missense_Mutation_p.R238H|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.R953H|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.R218H|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.R218H|CDK5RAP2_uc011lya.1_Missense_Mutation_p.R218H|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.R723H|CDK5RAP2_uc004bki.2_Missense_Mutation_p.R720H	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	953	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						GGCAGGGAGACGATACATATT	0.473													T	123210340	C	T	123210340	3	4	27	1	0	0	0	0	1	0	0	0	3146	536	19	1	2891	1	CDK5RAP2	9	123210340	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1239208	123210340	18003091	4594	28545											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123253685	123253685	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcactcagaagactcttgTaacgattttccattgctttc	5	10	3	2	rs140513883		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:123253685T>C	uc004bkf.2	-	13	1563	c.1382A>G	c.(1381-1383)TAC>TGC	p.Y461C	CDK5RAP2_uc004bkg.2_Missense_Mutation_p.Y461C|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.Y461C|CDK5RAP2_uc004bki.2_Missense_Mutation_p.Y260C	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	461					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						AAGACTCTTGTAACGATTTTC	0.338													C	123253685	T	C	123253685	3	2	27	1	0	0	0	0	1	0	0	0	3146	1638	57	3	4403	3	CDK5RAP2	9	123253685	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	43345	123253685	17959746	4595	28546											
C5	727	broad.mit.edu	37	chr9	123776296	123776296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtttcatcattattaacGcaggctccatcgtaacaaca	6	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:123776296G>A	uc004bkv.2	-	17	2142	c.2112C>T	c.(2110-2112)TGC>TGT	p.C704C	C5_uc010mvm.1_Silent_p.C704C	NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	704	Anaphylatoxin-like.				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CATTATTAACGCAGGCTCCAT	0.408													A	123776296	G	A	123776296	2	1	27	1	0	0	0	0	0	0	0	1	2280	1079	38	1		1	C5	9	123776296	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	522611	123776296	17437135	4596	28547											
C5	727	broad.mit.edu	37	chr9	123782388	123782388	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtaactttggctgagagatgAgtatgctattgctcggtaac	12	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:123782388A>T	uc004bkv.2	-	12	1402	c.1372T>A	c.(1372-1374)TCA>ACA	p.S458T	C5_uc010mvm.1_Missense_Mutation_p.S458T|C5_uc010mvn.1_Missense_Mutation_p.S458T	NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	458					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CTGAGAGATGAGTATGCTATT	0.398													T	123782388	A	T	123782388	3	4	27	1	0	0	0	0	1	0	0	0	2280	304	11	5	3778	5	C5	9	123782388	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	6092	123782388	17431043	4597	28548											
CEP110	11064	broad.mit.edu	37	chr9	123920323	123920323	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatcaccacctgcaggTccttaaagaatctgaggtgc	11	10	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:123920323T>A	uc004bkx.1	+	28	4731	c.4700T>A	c.(4699-4701)GTC>GAC	p.V1567D	CEP110_uc010mvo.1_Missense_Mutation_p.V236D|CEP110_uc004blb.1_Missense_Mutation_p.V236D|CEP110_uc010mvp.1_Intron	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	1567	Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						CACCTGCAGGTCCTTAAAGAA	0.468													A	123920323	T	A	123920323	3	1	27	1	0	0	0	0	1	0	0	0	3245	1667	58	5	4810	5	CEP110	9	123920323	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	137935	123920323	17293108	4598	28549											
GSN	2934	broad.mit.edu	37	chr9	124081025	124081025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacccagaccagacagatgGcctgggcttgtcctaccttt	11	13	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:124081025G>A	uc004blf.1	+	9	1272	c.1211G>A	c.(1210-1212)GGC>GAC	p.G404D	GSN_uc004bld.1_Missense_Mutation_p.G353D|GSN_uc010mvq.1_Missense_Mutation_p.G364D|GSN_uc010mvr.1_Missense_Mutation_p.G364D|GSN_uc010mvu.1_Missense_Mutation_p.G353D|GSN_uc010mvt.1_Missense_Mutation_p.G353D|GSN_uc010mvs.1_Missense_Mutation_p.G353D|GSN_uc004ble.1_Missense_Mutation_p.G353D|GSN_uc010mvv.1_Missense_Mutation_p.G353D|GSN_uc011lyh.1_Missense_Mutation_p.G370D|GSN_uc011lyi.1_Missense_Mutation_p.G353D|GSN_uc011lyj.1_Missense_Mutation_p.G377D|GSN_uc004blg.1_Missense_Mutation_p.G135D	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	404					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3						CAGACAGATGGCCTGGGCTTG	0.642													A	124081025	G	A	124081025	3	1	27	1	0	0	0	0	1	0	0	0	6825	1203	42	2	1273	2	GSN	9	124081025	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	160702	124081025	17132406	4599	28550											
DAB2IP	153090	broad.mit.edu	37	chr9	124535066	124535066	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatggtggacctccaggaCgcccgcacgctggatgggga	15	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:124535066C>T	uc004bln.2	+	12	2244	c.2175C>T	c.(2173-2175)GAC>GAT	p.D725D	DAB2IP_uc004blo.2_Silent_p.D629D|DAB2IP_uc004blp.2_Silent_p.D158D	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	753					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2						ACCTCCAGGACGCCCGCACGC	0.697													T	124535066	C	T	124535066	2	4	27	1	0	0	0	0	0	0	0	1	4219	535	19	1		1	DAB2IP	9	124535066	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	454041	124535066	16678365	4600	28551											
NDUFA8	4702	broad.mit.edu	37	chr9	124906577	124906577	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaggctgcagatctccctcGatctcagggctgggatccgg	14	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:124906577G>A	uc004blv.2	-	4	604	c.462C>T	c.(460-462)ATC>ATT	p.I154I		NM_014222	NP_055037	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	154					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)	1					NADH(DB00157)	GATCTCCCTCGATCTCAGGGC	0.547													A	124906577	G	A	124906577	2	1	27	1	0	0	0	0	0	0	0	1	10271	1048	37	1		1	NDUFA8	9	124906577	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	371511	124906577	16306854	4601	28552											
RBM18	92400	broad.mit.edu	37	chr9	125009820	125009820	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttgagcatgtgcccatcGcaccaccagcttcttggaca	8	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:125009820G>A	uc004bma.2	-	4	470	c.304C>T	c.(304-306)CGA>TGA	p.R102*	RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_Intron	NM_033117	NP_149108	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	102	RRM.						nucleotide binding|RNA binding				0						TGTGCCCATCGCACCACCAGC	0.483													A	125009820	G	A	125009820	4	1	27	1	0	0	0	0	0	1	0	0	13120	1095	38	1	280	1	RBM18	9	125009820	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	103243	125009820	16203611	4602	28553											
OR1L8	138881	broad.mit.edu	37	chr9	125330036	125330036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaggtaaaaaccacaggTggagaaggctttgcgtttcc	14	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:125330036T>C	uc004bmp.1	-	1	721	c.721A>G	c.(721-723)ACC>GCC	p.T241A		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L,	241	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3						AAACCACAGGTGGAGAAGGCT	0.473													C	125330036	T	C	125330036	3	2	27	1	0	0	0	0	1	0	0	0	10967	1696	59	3	212	3	OR1L8	9	125330036	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	320216	125330036	15883395	4603	28554											
OR5C1	392391	broad.mit.edu	37	chr9	125551853	125551853	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcatccagacagccacGgtgttagctatcacggtgtc	11	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:125551853G>A	uc011lzd.1	+	1	642	c.642G>A	c.(640-642)ACG>ACA	p.T214T		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C,	214	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1						AGACAGCCACGGTGTTAGCTA	0.582													A	125551853	G	A	125551853	2	1	27	1	0	0	0	0	0	0	0	1	11153	1103	39	1		1	OR5C1	9	125551853	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	221817	125551853	15661578	4604	28555											
OR5C1	392391	broad.mit.edu	37	chr9	125551886	125551886	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acggtgtcttatggcttcatCgctggggctgtgatccacat	12	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:125551886C>T	uc011lzd.1	+	1	675	c.675C>T	c.(673-675)ATC>ATT	p.I225I		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C,	225	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1						ATGGCTTCATCGCTGGGGCTG	0.592													T	125551886	C	T	125551886	2	4	27	1	0	0	0	0	0	0	0	1	11153	874	31	1		1	OR5C1	9	125551886	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	33	125551886	15661545	4605	28556											
OR1K1	392392	broad.mit.edu	37	chr9	125562695	125562695	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccatctcgctggctggctgCctgacccaaatgtacttctt	8	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:125562695C>G	uc011lze.1	+	1	294	c.294C>G	c.(292-294)TGC>TGG	p.C98W		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K,	98	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TGGCTGGCTGCCTGACCCAAA	0.592													G	125562695	C	G	125562695	3	3	27	1	0	0	0	0	1	0	0	0	10962	747	26	5	296	5	OR1K1	9	125562695	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	10809	125562695	15650736	4606	28557											
RC3H2	54542	broad.mit.edu	37	chr9	125617543	125617543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtatggtaacctgtacggGaagatctggaaatcgcaccc	12	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:125617543G>A	uc010mwc.1	-	15	2976	c.2735C>T	c.(2734-2736)TCC>TTC	p.S912F	RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.S912F|RC3H2_uc004bne.3_Missense_Mutation_p.S912F	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	912						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4						ACCTGTACGGGAAGATCTGGA	0.438													A	125617543	G	A	125617543	3	1	27	1	0	0	0	0	1	0	0	0	13167	1174	41	4	946	4	RC3H2	9	125617543	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	54848	125617543	15595888	4607	28558											
ZBTB6	10773	broad.mit.edu	37	chr9	125673310	125673310	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagggccgtatgcccatgtGtcctcggatgtgtcggttga	14	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:125673310G>T	uc004bnh.2	-	2	1131	c.1042C>A	c.(1042-1044)CAC>AAC	p.H348N		NM_006626	NP_006617	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	348	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATGCCCATGTGTCCTCGGATG	0.443													T	125673310	G	T	125673310	3	4	27	1	0	0	0	0	1	0	0	0	17549	1377	48	5	236	5	ZBTB6	9	125673310	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	55767	125673310	15540121	4608	28559											
RABGAP1	23637	broad.mit.edu	37	chr9	125759568	125759568	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaagttcagatggaaagTcgtatgttattacggggagc	13	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:125759568T>C	uc011lzh.1	+	9	1266	c.1132T>C	c.(1132-1134)TCG>CCG	p.S378P	RABGAP1_uc004bnl.3_RNA	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	378					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						AGATGGAAAGTCGTATGTTAT	0.388													C	125759568	T	C	125759568	3	2	27	1	0	0	0	0	1	0	0	0	12964	1667	58	3	1162	3	RABGAP1	9	125759568	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	86258	125759568	15453863	4609	28560											
RABGAP1	23637	broad.mit.edu	37	chr9	125836696	125836696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttccatatcatcgacctgCttttatgtgaggtatgtatc	7	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:125836696C>T	uc011lzh.1	+	17	2376	c.2242C>T	c.(2242-2244)CTT>TTT	p.L748F	RABGAP1_uc004bnl.3_RNA|RABGAP1_uc011lzj.1_Missense_Mutation_p.L87F	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	748	Rab-GAP TBC.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						CATCGACCTGCTTTTATGTGA	0.428													T	125836696	C	T	125836696	3	4	27	1	0	0	0	0	1	0	0	0	12964	797	28	2	2304	2	RABGAP1	9	125836696	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	77128	125836696	15376735	4610	28561											
DENND1A	57706	broad.mit.edu	37	chr9	126144873	126144873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggccactgtcaccccgCggctcctctcactcccgccc	7	22	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:126144873C>T	uc004bnz.1	-	22	2101	c.1868G>A	c.(1867-1869)CGC>CAC	p.R623H	DENND1A_uc011lzl.1_Missense_Mutation_p.R441H|DENND1A_uc004bny.1_Missense_Mutation_p.R405H|DENND1A_uc011lzm.1_Missense_Mutation_p.R634H|DENND1A_uc010mwh.1_Missense_Mutation_p.R44H	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	623						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2						TGTCACCCCGCGGCTCCTCTC	0.642													T	126144873	C	T	126144873	3	4	27	1	0	0	0	0	1	0	0	0	4426	768	27	1	1165	1	DENND1A	9	126144873	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	308177	126144873	15068558	4611	28562											
DENND1A	57706	broad.mit.edu	37	chr9	126214597	126214597	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccggatttgctttggtcttTacagtattcagaattgctcc	9	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:126214597T>C	uc004bnz.1	-	17	1490	c.1257A>G	c.(1255-1257)GTA>GTG	p.V419V	DENND1A_uc011lzl.1_Silent_p.V194V|DENND1A_uc004bny.1_Silent_p.V158V|DENND1A_uc011lzm.1_Silent_p.V387V|DENND1A_uc004boa.1_Silent_p.V419V|DENND1A_uc004bob.1_Silent_p.V389V|DENND1A_uc004boc.2_Silent_p.V387V	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	419						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2						CTTTGGTCTTTACAGTATTCA	0.413													C	126214597	T	C	126214597	2	2	27	1	0	0	0	0	0	0	0	1	4426	1741	61	3		3	DENND1A	9	126214597	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	69724	126214597	14998834	4612	28563											
NEK6	10783	broad.mit.edu	37	chr9	127110081	127110081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgactaccccccactccccGgggagcactactccgagaag	10	17	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:127110081G>A	uc004bog.2	+	9	960	c.811G>A	c.(811-813)GGG>AGG	p.G271R	NEK6_uc004bof.2_Missense_Mutation_p.G289R|NEK6_uc004boh.2_Missense_Mutation_p.G305R|NEK6_uc010mwj.2_Missense_Mutation_p.G224R|NEK6_uc010mwk.2_Missense_Mutation_p.G271R|NEK6_uc004boi.2_Missense_Mutation_p.G271R	NM_014397	NP_055212	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6 isoform 2	271	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|kidney(1)	3						CCCACTCCCCGGGGAGCACTA	0.607													A	127110081	G	A	127110081	3	1	27	1	0	0	0	0	1	0	0	0	10328	1116	39	1	1026	1	NEK6	9	127110081	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	895484	127110081	14103350	4613	28564											
NR6A1	2649	broad.mit.edu	37	chr9	127298343	127298343	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttcttgatccaggcaatcTgcctaaagagcagctcgtcg	10	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:127298343T>C	uc004bor.1	-	7	1071	c.893A>G	c.(892-894)CAG>CGG	p.Q298R	NR6A1_uc004boq.1_Missense_Mutation_p.Q293R|NR6A1_uc010mwq.1_Missense_Mutation_p.Q294R	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	298					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						CCAGGCAATCTGCCTAAAGAG	0.542													C	127298343	T	C	127298343	3	2	27	1	0	0	0	0	1	0	0	0	10637	1580	55	3	565	3	NR6A1	9	127298343	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	188262	127298343	13915088	4614	28565											
NR6A1	2649	broad.mit.edu	37	chr9	127316748	127316748	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgctccgcttgaaaaaccCtttgcagccctcacaggaga	8	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:127316748C>A	uc004bor.1	-	3	422	c.244G>T	c.(244-246)GGG>TGG	p.G82W	NR6A1_uc004boq.1_Missense_Mutation_p.G78W|NR6A1_uc010mwq.1_Missense_Mutation_p.G78W	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	82	Nuclear receptor.				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						TTGAAAAACCCTTTGCAGCCC	0.507													A	127316748	C	A	127316748	3	1	27	1	0	0	0	0	1	0	0	0	10637	681	24	5	1230	5	NR6A1	9	127316748	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	18405	127316748	13896683	4615	28566											
RABEPK	10244	broad.mit.edu	37	chr9	127996243	127996243	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctatgacgattgtattgTgactgtagtggactaataaa	9	4	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:127996243T>G	uc004bpi.2	+	9	1276	c.1103T>G	c.(1102-1104)GTG>GGG	p.V368G	RABEPK_uc004bpj.2_Missense_Mutation_p.V317G|RABEPK_uc004bpk.2_Missense_Mutation_p.V368G|RABEPK_uc004bpl.1_3'UTR|RABEPK_uc004bpm.2_Missense_Mutation_p.V368G	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	368					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1						GATTGTATTGTGACTGTAGTG	0.378													G	127996243	T	G	127996243	3	3	27	1	0	0	0	0	1	0	0	0	12963	1696	59	5	1129	5	RABEPK	9	127996243	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	679495	127996243	13217188	4616	28567											
GAPVD1	26130	broad.mit.edu	37	chr9	128099736	128099736	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgtccggagacccatgagtGaccccagctggaaccggcgt	13	14	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:128099736G>A	uc010mwx.2	+	17	3069	c.2743G>A	c.(2743-2745)GAC>AAC	p.D915N	GAPVD1_uc011lzs.1_Missense_Mutation_p.D915N|GAPVD1_uc004bpp.2_Missense_Mutation_p.D942N|GAPVD1_uc004bpq.2_Missense_Mutation_p.D915N|GAPVD1_uc004bpr.2_Missense_Mutation_p.D894N|GAPVD1_uc004bps.2_Missense_Mutation_p.D915N|GAPVD1_uc010mwy.1_Missense_Mutation_p.D748N	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	915					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						ACCCATGAGTGACCCCAGCTG	0.418													A	128099736	G	A	128099736	3	1	27	1	0	0	0	0	1	0	0	0	6239	1290	45	4	2882	4	GAPVD1	9	128099736	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	103493	128099736	13113695	4617	28568											
GAPVD1	26130	broad.mit.edu	37	chr9	128111746	128111746	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatctcggctgatgatctcCcagactctgcaagccaagca	8	14	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:128111746C>A	uc010mwx.2	+	21	3627	c.3301C>A	c.(3301-3303)CCA>ACA	p.P1101T	GAPVD1_uc004bpp.2_Missense_Mutation_p.P1110T|GAPVD1_uc004bpq.2_Missense_Mutation_p.P1083T|GAPVD1_uc004bpr.2_Missense_Mutation_p.P1062T|GAPVD1_uc004bps.2_Missense_Mutation_p.P1056T|GAPVD1_uc004bpt.2_Missense_Mutation_p.P116T	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1101					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						TGATGATCTCCCAGACTCTGC	0.483													A	128111746	C	A	128111746	3	1	27	1	0	0	0	0	1	0	0	0	6239	623	22	5	3402	5	GAPVD1	9	128111746	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	12010	128111746	13101685	4618	28569											
MAPKAP1	79109	broad.mit.edu	37	chr9	128347881	128347881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatactgccagcagatgagCccgatcaggtcctgcaccct	10	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:128347881C>T	uc004bpv.2	-	5	957	c.624G>A	c.(622-624)GGG>GGA	p.G208G	MAPKAP1_uc011lzt.1_Silent_p.G11G|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Silent_p.G11G|MAPKAP1_uc011lzv.1_Silent_p.G11G|MAPKAP1_uc004bpw.2_Silent_p.G16G|MAPKAP1_uc004bpx.2_Silent_p.G16G|MAPKAP1_uc004bpy.2_Silent_p.G208G|MAPKAP1_uc004bpz.2_Silent_p.G208G|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc010mxb.1_Silent_p.G11G|MAPKAP1_uc004bqa.2_Silent_p.G208G|MAPKAP1_uc010mxc.1_Silent_p.G80G	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated	208					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			ovary(2)|lung(2)	4						AGCAGATGAGCCCGATCAGGT	0.552													T	128347881	C	T	128347881	2	4	27	1	0	0	0	0	0	0	0	1	9288	726	26	2		2	MAPKAP1	9	128347881	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	236135	128347881	12865550	4619	28570											
LMX1B	4010	broad.mit.edu	37	chr9	129458638	129458638	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcctcagcgactgcttcCtcggctcctcagacgtgggc	11	17	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:129458638C>A	uc004bqj.2	+	8	1098	c.1048C>A	c.(1048-1050)CTC>ATC	p.L350I	LMX1B_uc004bqi.2_Missense_Mutation_p.L343I|LMX1B_uc011maa.1_Missense_Mutation_p.L354I	NM_002316	NP_002307	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	350					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CGACTGCTTCCTCGGCTCCTC	0.627									Nail-Patella_Syndrome				A	129458638	C	A	129458638	3	1	27	1	0	0	0	0	1	0	0	0	8862	681	24	5	1180	5	LMX1B	9	129458638	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1110757	129458638	11754793	4620	28571											
RALGPS1	9649	broad.mit.edu	37	chr9	129740006	129740006	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaatggatatacctgtgttTaaagctatccagccggaggt	10	7	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:129740006T>C	uc004bqo.1	+	4	465	c.198T>C	c.(196-198)TTT>TTC	p.F66F	RALGPS1_uc011mab.1_Silent_p.F66F|RALGPS1_uc011mac.1_Silent_p.F66F|RALGPS1_uc004bqq.3_Silent_p.F66F	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	66	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			ovary(1)	1						TACCTGTGTTTAAAGCTATCC	0.393													C	129740006	T	C	129740006	2	2	27	1	0	0	0	0	0	0	0	1	13017	1751	61	3		3	RALGPS1	9	129740006	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	281368	129740006	11473425	4621	28572											
GARNL3	84253	broad.mit.edu	37	chr9	130073930	130073930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagaatgcaactgccctgCctggtacttggcgaagaaca	10	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:130073930C>T	uc011mae.1	+	3	636	c.235C>T	c.(235-237)CCT>TCT	p.P79S	GARNL3_uc011mad.1_Missense_Mutation_p.P57S	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	79					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						AACTGCCCTGCCTGGTACTTG	0.413													T	130073930	C	T	130073930	3	4	27	1	0	0	0	0	1	0	0	0	6241	739	26	2	245	2	GARNL3	9	130073930	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	333924	130073930	11139501	4622	28573											
GARNL3	84253	broad.mit.edu	37	chr9	130083001	130083001	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattctatttcagtgccatgAatctggacaaatttgagaaa	7	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:130083001A>G	uc011mae.1	+	6	912	c.511A>G	c.(511-513)AAT>GAT	p.N171D	GARNL3_uc011mad.1_Missense_Mutation_p.N149D	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	171					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CAGTGCCATGAATCTGGACAA	0.378													G	130083001	A	G	130083001	3	3	27	1	0	0	0	0	1	0	0	0	6241	246	9	3	533	3	GARNL3	9	130083001	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	9071	130083001	11130430	4623	28574											
RPL12	6136	broad.mit.edu	37	chr9	130210270	130210270	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggatctctttaatggttccTttaagtaaagaaatggtggc	10	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:130210270T>C	uc004bqy.1	-	6	468	c.380_splice	c.e6-1	p.G127_splice	RPL12_uc004bqx.1_Splice_Site|RPL12_uc004bqz.1_Splice_Site_p.G94_splice	NM_000976	NP_000967	P30050	RL12_HUMAN	ribosomal protein L12						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome				0						TAATGGTTCCTTTAAGTAAAG	0.498													C	130210270	T	C	130210270	5	2	27	1	0	0	0	0	0	0	1	0	13558	1623	56	3	127	3	RPL12	9	130210270	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	127269	130210270	11003161	4624	28575											
LRSAM1	90678	broad.mit.edu	37	chr9	130219605	130219605	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctccacacaggtgctgatcgTccacacgaatcacctcactt	6	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:130219605T>A	uc004brb.1	+	6	530	c.185T>A	c.(184-186)GTC>GAC	p.V62D	LRSAM1_uc010mxk.1_Missense_Mutation_p.V62D|LRSAM1_uc004brc.1_Missense_Mutation_p.V62D|LRSAM1_uc004brd.1_Missense_Mutation_p.V62D	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif	62	LRR 2.				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding				0						GTGCTGATCGTCCACACGAAT	0.642													A	130219605	T	A	130219605	3	1	27	1	0	0	0	0	1	0	0	0	9043	1667	58	5	199	5	LRSAM1	9	130219605	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9335	130219605	10993826	4625	28576											
LRSAM1	90678	broad.mit.edu	37	chr9	130265165	130265165	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcccagcgcctccgcatctAccacagcagctgagtgctgc	10	18	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:130265165A>G	uc004brb.1	+	26	2504	c.2159A>G	c.(2158-2160)TAC>TGC	p.Y720C	LRSAM1_uc010mxk.1_Missense_Mutation_p.Y693C|LRSAM1_uc004brc.1_Missense_Mutation_p.Y720C|LRSAM1_uc004brd.1_Missense_Mutation_p.Y720C|LRSAM1_uc004bre.1_Missense_Mutation_p.Y300C|LRSAM1_uc004brg.1_Missense_Mutation_p.Y151C	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif	720					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding				0						CTCCGCATCTACCACAGCAGC	0.692													G	130265165	A	G	130265165	3	3	27	1	0	0	0	0	1	0	0	0	9043	391	14	3	2253	3	LRSAM1	9	130265165	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	45560	130265165	10948266	4626	28577											
PTRH1	138428	broad.mit.edu	37	chr9	130476504	130476504	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagcagcccagcacatgggCctgaaccgcctcagggtgcg	14	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:130476504C>A	uc004bro.2	-	5	538	c.520G>T	c.(520-522)GCC>TCC	p.A174S	PTRH1_uc004brm.2_Intron|PTRH1_uc010mxm.2_Missense_Mutation_p.R171S|PTRH1_uc011mah.1_Missense_Mutation_p.A187S|TTC16_uc004brq.1_5'Flank|TTC16_uc011mai.1_5'Flank|TTC16_uc004brr.1_5'Flank	NM_001002913	NP_001002913	Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog	174					translation		aminoacyl-tRNA hydrolase activity|protein binding				0						AGCACATGGGCCTGAACCGCC	0.657													A	130476504	C	A	130476504	3	1	27	1	0	0	0	0	1	0	0	0	12816	739	26	5	128	5	PTRH1	9	130476504	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	211339	130476504	10736927	4627	28578											
CDK9	1025	broad.mit.edu	37	chr9	130550553	130550553	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtgatggggtcctgaagCtggcagactttgggctggcc	16	10	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:130550553C>A	uc004bse.2	+	5	616	c.493C>A	c.(493-495)CTG>ATG	p.L165M		NM_001261	NP_001252	P50750	CDK9_HUMAN	cyclin-dependent kinase 9	165	Protein kinase.				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1						GGTCCTGAAGCTGGCAGACTT	0.592													A	130550553	C	A	130550553	3	1	27	1	0	0	0	0	1	0	0	0	3151	796	28	5	511	5	CDK9	9	130550553	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	74049	130550553	10662878	4628	28579											
SLC27A4	10999	broad.mit.edu	37	chr9	131107478	131107478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggcaaaggtgcgacagtGcctgcaggagcggcggacag	18	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:131107478G>A	uc004but.2	+	3	490	c.206G>A	c.(205-207)TGC>TAC	p.C69Y	SLC27A4_uc004buu.2_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	69					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0						GTGCGACAGTGCCTGCAGGAG	0.622													A	131107478	G	A	131107478	3	1	27	1	0	0	0	0	1	0	0	0	14528	1319	46	2	212	2	SLC27A4	9	131107478	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	556925	131107478	10105953	4629	28580											
ODF2	4957	broad.mit.edu	37	chr9	131262534	131262534	+	Nonstop_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcccgatctcctcctgcctgAggccacttatcagggcctgg	10	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:131262534A>T	uc011mbd.1	+	21	2801	c.2490A>T	c.(2488-2490)TGA>TGT	p.*830C	ODF2_uc004bvb.2_Nonstop_Mutation_p.*806C|ODF2_uc011mbe.1_Nonstop_Mutation_p.*825C|ODF2_uc004bvc.2_Nonstop_Mutation_p.*806C|ODF2_uc004bvd.3_Nonstop_Mutation_p.*830C|ODF2_uc004bvh.2_Nonstop_Mutation_p.*236C	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	830					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1						CTCCTGCCTGAGGCCACTTAT	0.547													T	131262534	A	T	131262534	4	4	27	1	0	0	0	0	0	0	0	0	10827	317	11	5	2686	5	ODF2	9	131262534	Nonstop_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	155056	131262534	9950897	4630	28581											
GLE1	2733	broad.mit.edu	37	chr9	131303406	131303406	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgcaacacaaggacattcCtgtccccaagggctttctga	8	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:131303406C>A	uc004bvj.2	+	16	2168	c.2054C>A	c.(2053-2055)CCT>CAT	p.P685H	GLE1_uc010myd.2_Missense_Mutation_p.P431H	NM_001003722	NP_001003722	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator homolog isoform 1	685	Interaction with NUPL2.				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding				0						AAGGACATTCCTGTCCCCAAG	0.453													A	131303406	C	A	131303406	3	1	27	1	0	0	0	0	1	0	0	0	6435	681	24	5	2132	5	GLE1	9	131303406	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	40872	131303406	9910025	4631	28582											
SPTAN1	6709	broad.mit.edu	37	chr9	131337514	131337514	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgaagagctgggccaggatCtggagcatgtagaggtttta	15	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:131337514C>A	uc004bvl.3	+	5	654	c.541C>A	c.(541-543)CTG>ATG	p.L181M	SPTAN1_uc011mbg.1_Missense_Mutation_p.L181M|SPTAN1_uc011mbh.1_Missense_Mutation_p.L193M|SPTAN1_uc004bvm.3_Missense_Mutation_p.L181M|SPTAN1_uc004bvn.3_Missense_Mutation_p.L181M	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	181	Spectrin 3.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						GGGCCAGGATCTGGAGCATGT	0.418													A	131337514	C	A	131337514	3	1	27	1	0	0	0	0	1	0	0	0	15116	912	32	5	555	5	SPTAN1	9	131337514	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	34108	131337514	9875917	4632	28583											
SPTAN1	6709	broad.mit.edu	37	chr9	131387430	131387430	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgattatggccgagacctgtCttctgtgcagacgctcctca	10	12	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:131387430C>A	uc004bvl.3	+	46	6139	c.6026C>A	c.(6025-6027)TCT>TAT	p.S2009Y	SPTAN1_uc004bvm.3_Missense_Mutation_p.S2014Y|SPTAN1_uc004bvn.3_Missense_Mutation_p.S1989Y|SPTAN1_uc010mye.1_5'Flank|SPTAN1_uc010myf.1_5'Flank	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2009	Spectrin 21.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						CGAGACCTGTCTTCTGTGCAG	0.478													A	131387430	C	A	131387430	3	1	27	1	0	0	0	0	1	0	0	0	15116	913	32	5	6223	5	SPTAN1	9	131387430	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	49916	131387430	9826001	4633	28584											
WDR34	89891	broad.mit.edu	37	chr9	131399212	131399212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccggccgtaggcacagGccaccacagagccagtggag	13	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:131399212G>A	uc004bvq.1	-	3	654	c.530C>T	c.(529-531)GCC>GTC	p.A177V	WDR34_uc004bvs.1_Missense_Mutation_p.A168V|WDR34_uc004bvr.1_Missense_Mutation_p.A177V|WDR34_uc011mbi.1_Missense_Mutation_p.A60V	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	WD repeat domain 34	177						cytoplasm				central_nervous_system(2)|skin(1)	3						GTAGGCACAGGCCACCACAGA	0.657													A	131399212	G	A	131399212	3	1	27	1	0	0	0	0	1	0	0	0	17285	1203	42	2	1108	2	WDR34	9	131399212	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	11782	131399212	9814219	4634	28585											
TBC1D13	54662	broad.mit.edu	37	chr9	131559484	131559484	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggcccggaaccggagtggGgtcacaaatgtgagtgccaa	16	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:131559484G>T	uc010myj.2	+	7	657	c.534G>T	c.(532-534)GGG>GGT	p.G178G	TBC1D13_uc010myk.2_Silent_p.G178G|TBC1D13_uc010myl.2_5'UTR	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	178	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0						ACCGGAGTGGGGTCACAAATG	0.537													T	131559484	G	T	131559484	2	4	27	1	0	0	0	0	0	0	0	1	15599	1219	43	5		5	TBC1D13	9	131559484	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	160272	131559484	9653947	4635	28586											
C9orf114	51490	broad.mit.edu	37	chr9	131591016	131591016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaagaccccagctcaccgCggtcctccttctctgccgct	7	21	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:131591016C>T	uc004bwd.2	-	3	232	c.206G>A	c.(205-207)CGC>CAC	p.R69H	C9orf114_uc004bwe.2_Missense_Mutation_p.R69H|C9orf114_uc010mym.2_RNA	NM_016390	NP_057474	Q5T280	CI114_HUMAN	hypothetical protein LOC51490	69											0						CAGCTCACCGCGGTCCTCCTT	0.527													T	131591016	C	T	131591016	3	4	27	1	0	0	0	0	1	0	0	0	2449	768	27	1	964	1	C9orf114	9	131591016	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	31532	131591016	9622415	4636	28587											
LRRC8A	56262	broad.mit.edu	37	chr9	131670363	131670363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcctgacgggctaccgcaCctaccgctgtgcccaccccc	10	20	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:131670363C>T	uc004bwl.3	+	3	1174	c.920C>T	c.(919-921)ACC>ATC	p.T307I	LRRC8A_uc010myp.2_Missense_Mutation_p.T307I|LRRC8A_uc010myq.2_Missense_Mutation_p.T307I	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	307					pre-B cell differentiation	integral to membrane					0						GGCTACCGCACCTACCGCTGT	0.542													T	131670363	C	T	131670363	3	4	27	1	0	0	0	0	1	0	0	0	9021	507	18	4	922	4	LRRC8A	9	131670363	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	79347	131670363	9543068	4637	28588											
NUP188	23511	broad.mit.edu	37	chr9	131741566	131741566	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattgatacagcatgtgaagTattggccgacccttctcttc	8	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:131741566T>C	uc004bws.1	+	13	1251	c.1229T>C	c.(1228-1230)GTA>GCA	p.V410A		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	410					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						GCATGTGAAGTATTGGCCGAC	0.358													C	131741566	T	C	131741566	3	2	27	1	0	0	0	0	1	0	0	0	10758	1638	57	3	1279	3	NUP188	9	131741566	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	71203	131741566	9471865	4638	28589											
NUP188	23511	broad.mit.edu	37	chr9	131755596	131755596	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagtcatgattctagagTtcctcactgttgcagtagag	9	8	4	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:131755596T>C	uc004bws.1	+	26	2783	c.2761T>C	c.(2761-2763)TTC>CTC	p.F921L	NUP188_uc004bwu.2_Missense_Mutation_p.F264L	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	921					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						GATTCTAGAGTTCCTCACTGT	0.502											OREG0019527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	131755596	T	C	131755596	3	2	27	1	0	0	0	0	1	0	0	0	10758	1725	60	3	2863	3	NUP188	9	131755596	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	14030	131755596	9457835	4639	28590											
CRAT	1384	broad.mit.edu	37	chr9	131862874	131862874	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctgccacgtggctgcgGtacacgtcttctgagaccct	12	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:131862874G>A	uc004bxh.2	-	7	1182	c.900C>T	c.(898-900)TAC>TAT	p.Y300Y	CRAT_uc004bxg.2_Silent_p.Y279Y|CRAT_uc004bxk.3_Silent_p.Y279Y	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	300					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CGTGGCTGCGGTACACGTCTT	0.632													A	131862874	G	A	131862874	2	1	27	1	0	0	0	0	0	0	0	1	3847	1256	44	4		4	CRAT	9	131862874	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	107278	131862874	9350557	4640	28591											
PPP2R4	5524	broad.mit.edu	37	chr9	131890312	131890312	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctgcgatgaatgcataCcattaccccgcgccgggcac	10	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:131890312C>G	uc004bxm.1	+	4	553	c.286C>G	c.(286-288)CCA>GCA	p.P96A	PPP2R4_uc004bxl.1_Intron|PPP2R4_uc011mbo.1_Missense_Mutation_p.P96A|PPP2R4_uc010myr.1_Intron|PPP2R4_uc004bxn.1_Intron|PPP2R4_uc004bxo.1_Intron|PPP2R4_uc011mbp.1_Intron|PPP2R4_uc011mbq.1_Intron|PPP2R4_uc010mys.1_Intron	NM_178001	NP_821068	Q15257	PTPA_HUMAN	protein phosphatase 2A, regulatory subunit B'	96					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			ovary(1)|lung(1)|pancreas(1)	3		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		TGAATGCATACCATTACCCCG	0.154													G	131890312	C	G	131890312	3	3	27	1	0	0	0	0	1	0	0	0	12391	507	18	5	300	5	PPP2R4	9	131890312	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	27438	131890312	9323119	4641	28592											
PPP2R4	5524	broad.mit.edu	37	chr9	131897123	131897123	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtctctgcaagattggGgtgctccgggtggatgacca	15	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:131897123G>T	uc004bxm.1	+	7	882	c.615G>T	c.(613-615)GGG>GGT	p.G205G	PPP2R4_uc004bxl.1_Silent_p.G170G|PPP2R4_uc011mbo.1_Silent_p.G205G|PPP2R4_uc010myr.1_Intron|PPP2R4_uc004bxn.1_Silent_p.G170G|PPP2R4_uc004bxo.1_Silent_p.G128G|PPP2R4_uc011mbp.1_Silent_p.G141G|PPP2R4_uc011mbq.1_Silent_p.G128G|PPP2R4_uc010mys.1_Silent_p.G135G	NM_178001	NP_821068	Q15257	PTPA_HUMAN	protein phosphatase 2A, regulatory subunit B'	205					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			ovary(1)|lung(1)|pancreas(1)	3		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		GCAAGATTGGGGTGCTCCGGG	0.552													T	131897123	G	T	131897123	2	4	27	1	0	0	0	0	0	0	0	1	12391	1219	43	5		5	PPP2R4	9	131897123	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	6811	131897123	9316308	4642	28593											
C9orf106	414318	broad.mit.edu	37	chr9	132084570	132084570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccccagcacatcggcagGccctaaggggacattcgctt	10	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:132084570G>A	uc004bxs.2	+	2	531	c.478G>A	c.(478-480)GCC>ACC	p.A160T		NM_001012715	NP_001012733	Q8NAJ2	CI106_HUMAN	hypothetical protein LOC414318	160											0		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				ACATCGGCAGGCCCTAAGGGG	0.612													A	132084570	G	A	132084570	3	1	27	1	0	0	0	0	1	0	0	0	2447	1203	42	2	480	2	C9orf106	9	132084570	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	187447	132084570	9128861	4643	28594											
ASB6	140459	broad.mit.edu	37	chr9	132400113	132400113	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtgctcgctaaggaggtAccacttcagcctgtcgggca	12	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:132400113A>G	uc004byf.1	-	6	1388	c.1222T>C	c.(1222-1224)TAC>CAC	p.Y408H	ASB6_uc004bye.1_Missense_Mutation_p.Y333H|ASB6_uc004byg.1_3'UTR|ASB6_uc011mbt.1_Missense_Mutation_p.Y329H|ASB6_uc010myx.1_Missense_Mutation_p.Y379H	NM_017873	NP_060343	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box-containing 6 isoform	408	SOCS box.				intracellular signal transduction	cytoplasm					0		Ovarian(14;0.00556)				CTAAGGAGGTACCACTTCAGC	0.602													G	132400113	A	G	132400113	3	3	27	1	0	0	0	0	1	0	0	0	1027	391	14	3	47	3	ASB6	9	132400113	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	315543	132400113	8813318	4644	28595											
PRRX2	51450	broad.mit.edu	37	chr9	132482979	132482979	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacagccaggaggccgccatCgagcagcccgtggctccccg	13	17	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:132482979C>T	uc004byh.2	+	3	779	c.552C>T	c.(550-552)ATC>ATT	p.I184I		NM_016307	NP_057391	Q99811	PRRX2_HUMAN	paired related homeobox 2	184						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1		Ovarian(14;0.00556)				AGGCCGCCATCGAGCAGCCCG	0.652													T	132482979	C	T	132482979	2	4	27	1	0	0	0	0	0	0	0	1	12613	874	31	1		1	PRRX2	9	132482979	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	82866	132482979	8730452	4645	28596											
TOR1B	27348	broad.mit.edu	37	chr9	132569491	132569491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttacagaagtggatccgcGgtaatgtgagtgcatgtgcg	15	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:132569491G>A	uc004byk.1	+	3	550	c.490G>A	c.(490-492)GGT>AGT	p.G164S		NM_014506	NP_055321	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B) precursor	164					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding				0		Ovarian(14;0.0586)				GTGGATCCGCGGTAATGTGAG	0.493													A	132569491	G	A	132569491	3	1	27	1	0	0	0	0	1	0	0	0	16371	1116	39	1	500	1	TOR1B	9	132569491	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	86512	132569491	8643940	4646	28597											
FUBP3	8939	broad.mit.edu	37	chr9	133511486	133511486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgctttctacggacagacGttagggcaggcgcaggccca	14	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:133511486G>A	uc004bzr.1	+	18	1791	c.1683G>A	c.(1681-1683)ACG>ACA	p.T561T	FUBP3_uc004bzs.1_Silent_p.T450T	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	561					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		ACGGACAGACGTTAGGGCAGG	0.632													A	133511486	G	A	133511486	2	1	27	1	0	0	0	0	0	0	0	1	6093	1132	40	1		1	FUBP3	9	133511486	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	941995	133511486	7701945	4647	28598											
LAMC3	10319	broad.mit.edu	37	chr9	133901837	133901837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgagggccagtacctgcGccccggcgaggacgagcgcg	17	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:133901837G>A	uc004caa.1	+	2	637	c.539G>A	c.(538-540)CGC>CAC	p.R180H		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	180	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CAGTACCTGCGCCCCGGCGAG	0.692													A	133901837	G	A	133901837	3	1	27	1	0	0	0	0	1	0	0	0	8616	1087	38	1	545	1	LAMC3	9	133901837	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	390351	133901837	7311594	4648	28599											
NUP214	8021	broad.mit.edu	37	chr9	134073008	134073009	+	Frame_Shift_Ins	INS	-	-	C													tcagggtttaattttactgcINSccccccggtgttagggaagc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:134073007_134073008G>GC	uc004cag.3	+	28	4237_4238	c.4126_4127G>GC	c.(4126-4128)gccfs	p.A1376fs	NUP214_uc004cah.3_Frame_Shift_Ins_p.A1366fs|NUP214_uc004cai.3_Frame_Shift_Ins_p.A806fs|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Frame_Shift_Ins_p.A202fs|NUP214_uc011mcf.1_Frame_Shift_Ins_p.A153fs|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1376	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAATTTTACTGCCCCCCCGGTG	0.545			T	"DEK, SET, ABL1"	"AML, T-ALL"								C	134073009	-	C	134073008	7	5	27	1	0	1	1	0	0	0	0	0	10762	739	26	0	4241	0	NUP214	9	134073008	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	171171	134073008	7140423	4649	28600											
BAT2L1	84726	broad.mit.edu	37	chr9	134305536	134305536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgacatttcatcgcaatgtCcgatcgtttggggcaaatta	9	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:134305536C>T	uc004can.3	+	1	60	c.5C>T	c.(4-6)TCC>TTC	p.S2F	BAT2L1_uc004cam.1_Missense_Mutation_p.S2F	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	2							protein binding				0						ATCGCAATGTCCGATCGTTTG	0.378													T	134305536	C	T	134305536	3	4	27	1	0	0	0	0	1	0	0	0	1320	855	30	4	7	4	BAT2L1	9	134305536	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	232528	134305536	6907895	4650	28601											
BAT2L1	84726	broad.mit.edu	37	chr9	134351905	134351905	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagccaacagaatgggacGcctttgaaagtgaaaaggta	13	6	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:134351905G>A	uc004can.3	+	15	4444	c.4389G>A	c.(4387-4389)ACG>ACA	p.T1463T	BAT2L1_uc010mzj.1_Silent_p.T1046T|BAT2L1_uc004cao.3_Silent_p.T821T	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1463							protein binding				0						AGAATGGGACGCCTTTGAAAG	0.552													A	134351905	G	A	134351905	2	1	27	1	0	0	0	0	0	0	0	1	1320	1074	38	1		1	BAT2L1	9	134351905	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	46369	134351905	6861526	4651	28602											
RAPGEF1	2889	broad.mit.edu	37	chr9	134465325	134465325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgtgttcttgctgacgcGcttcttgaatgtgtcggcaa	12	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:134465325G>A	uc004cbc.2	-	16	2387	c.2257C>T	c.(2257-2259)CGC>TGC	p.R753C	RAPGEF1_uc004cbb.2_Missense_Mutation_p.R771C	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	753	N-terminal Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TTGCTGACGCGCTTCTTGAAT	0.562													A	134465325	G	A	134465325	3	1	27	1	0	0	0	0	1	0	0	0	13043	1087	38	1	1012	1	RAPGEF1	9	134465325	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	113420	134465325	6748106	4652	28603											
NTNG2	84628	broad.mit.edu	37	chr9	135116397	135116397	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccaagtgcgacgactgCctccccacgcactactggcg	11	18	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:135116397C>T	uc004cbh.2	+	7	2099	c.1323C>T	c.(1321-1323)TGC>TGT	p.C441C		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	441	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCGACGACTGCCTCCCCACGC	0.617													T	135116397	C	T	135116397	2	4	27	1	0	0	0	0	0	0	0	1	10705	747	26	2		2	NTNG2	9	135116397	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	651072	135116397	6097034	4653	28604											
SETX	23064	broad.mit.edu	37	chr9	135202582	135202582	+	Frame_Shift_Del	DEL	C	C	-													tatgacgtgctgttggatcaCctccacccagagggtcttct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:135202581_135202581AC>A	uc004cbk.3	-	9	4587	c.4404_4404GT>T	c.(4402-4404)ggtfs	p.G1468fs	SETX_uc004cbj.3_Frame_Shift_Del_p.G1087fs|SETX_uc010mzt.3_Frame_Shift_Del_p.G1087fs	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1468					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTGTTGGATCACCTCCACCCA	0.433													-	135202582	C	-	135202582	7	5	27	1	0	1	0	1	0	0	0	0	14141	507	18	0	3698	0	SETX	9	135202582	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	86185	135202582	6010849	4654	28605											
SETX	23064	broad.mit.edu	37	chr9	135204906	135204906	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagtaaaaatgtttttActactctgctttaagcatga	5	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:135204906A>G	uc004cbk.2	-	10	2262	c.2079T>C	c.(2077-2079)AGT>AGC	p.S693S	SETX_uc004cbj.2_Silent_p.S312S|SETX_uc010mzt.2_Silent_p.S312S	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	693					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAATGTTTTTACTACTCTGCT	0.338													G	135204906	A	G	135204906	2	3	27	1	0	0	0	0	0	0	0	1	14141	388	14	3		3	SETX	9	135204906	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2324	135204906	6008525	4655	28606											
TTF1	7270	broad.mit.edu	37	chr9	135277202	135277202	+	Frame_Shift_Del	DEL	T	T	-													cctggtgattggactttttcTtttttttcttagacttgttt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:135277201_135277201CT>C	uc004cbl.3	-	1	1077	c.1008_1008AG>G	c.(1006-1008)aagfs	p.K336fs	TTF1_uc004cbm.3_Intron|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	336	Poly-Lys.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TGGACTTTTTCTTTTTTTTCT	0.507													-	135277202	T	-	135277202	7	5	27	1	0	1	0	1	0	0	0	0	16715	1609	56	0	1750	0	TTF1	9	135277202	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	72296	135277202	5936229	4656	28607											
BARHL1	56751	broad.mit.edu	37	chr9	135462883	135462883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggaccgcatggagctcGccgcctcgctcaacctcacc	10	18	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:135462883G>A	uc004cbp.1	+	2	826	c.634G>A	c.(634-636)GCC>ACC	p.A212T		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	212	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		CATGGAGCTCGCCGCCTCGCT	0.657													A	135462883	G	A	135462883	3	1	27	1	0	0	0	0	1	0	0	0	1313	1087	38	1	640	1	BARHL1	9	135462883	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	185681	135462883	5750548	4657	28608											
GTF3C4	9329	broad.mit.edu	37	chr9	135554007	135554007	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgagtggccttattgtggGgagtgcttttggacccataa	13	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:135554007G>T	uc010mzv.2	+	2	1259	c.1001G>T	c.(1000-1002)GGG>GTG	p.G334V	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	334					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CTTATTGTGGGGAGTGCTTTT	0.408													T	135554007	G	T	135554007	3	4	27	1	0	0	0	0	1	0	0	0	6875	1232	43	5	1007	5	GTF3C4	9	135554007	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	91124	135554007	5659424	4658	28609											
TSC1	7248	broad.mit.edu	37	chr9	135772974	135772974	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttctagctctttccgataGgcggctttcatcatttctac	6	11	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:135772974G>T	uc004cca.2	-	21	2883	c.2649C>A	c.(2647-2649)GCC>GCA	p.A883A	TSC1_uc004ccb.3_Silent_p.A882A|TSC1_uc011mcq.1_Silent_p.A832A|TSC1_uc011mcr.1_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	883	Potential.				activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTTTCCGATAGGCGGCTTTCA	0.363			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				T	135772974	G	T	135772974	2	4	27	1	0	0	0	0	0	0	0	1	16602	987	35	5		5	TSC1	9	135772974	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	218967	135772974	5440457	4659	28610											
TSC1	7248	broad.mit.edu	37	chr9	135786003	135786003	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggagtgaaatgtgcacGtagtcatccgaatgacagag	15	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:135786003G>A	uc004cca.2	-	12	1452	c.1218C>T	c.(1216-1218)TAC>TAT	p.Y406Y	TSC1_uc004ccb.3_Silent_p.Y405Y|TSC1_uc011mcq.1_Silent_p.Y355Y|TSC1_uc011mcr.1_Intron|TSC1_uc011mcs.1_Silent_p.Y285Y|TSC1_uc004ccc.1_Silent_p.Y406Y	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	406					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AAATGTGCACGTAGTCATCCG	0.567			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				A	135786003	G	A	135786003	2	1	27	1	0	0	0	0	0	0	0	1	16602	1140	40	1		1	TSC1	9	135786003	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	13029	135786003	5427428	4660	28611											
GFI1B	8328	broad.mit.edu	37	chr9	135865239	135865239	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctacccctgccagttctgCggcaagcgtttccaccagaa	8	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:135865239C>T	uc004ccg.2	+	6	910	c.759C>T	c.(757-759)TGC>TGT	p.C253C	GFI1B_uc010mzy.2_Silent_p.C207C	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription	253	Mediates interaction with GATA1.|C2H2-type 4.|Interaction with ARIH2.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GCCAGTTCTGCGGCAAGCGTT	0.627													T	135865239	C	T	135865239	2	4	27	1	0	0	0	0	0	0	0	1	6340	776	27	1		1	GFI1B	9	135865239	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	79236	135865239	5348192	4661	28612											
GTF3C5	9328	broad.mit.edu	37	chr9	135932181	135932181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatcattcaccgcaatgacGgggcagagaattcctgcaca	10	11	2	3	rs144801827	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:135932181G>A	uc004cci.3	+	10	1616	c.1279G>A	c.(1279-1281)GGG>AGG	p.G427R	GTF3C5_uc004ccj.3_Missense_Mutation_p.G434R	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	427						transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		CCGCAATGACGGGGCAGAGAA	0.587													A	135932181	G	A	135932181	3	1	27	1	0	0	0	0	1	0	0	0	6876	1116	39	1	1342	1	GTF3C5	9	135932181	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	66942	135932181	5281250	4662	28613											
CEL	1056	broad.mit.edu	37	chr9	135941940	135941940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actatggccttcgggatcagCacatggccattgcttgggtg	13	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:135941940C>T	uc010naa.1	+	5	587	c.571C>T	c.(571-573)CAC>TAC	p.H191Y		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	188					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TCGGGATCAGCACATGGCCAT	0.637													T	135941940	C	T	135941940	3	4	27	1	0	0	0	0	1	0	0	0	3209	710	25	2	589	2	CEL	9	135941940	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	9759	135941940	5271491	4663	28614											
SURF6	6838	broad.mit.edu	37	chr9	136198743	136198743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggtcctgcggcaggaTgcggcccttcttgcgggctc	14	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:136198743T>C	uc004cdb.3	-	5	1126	c.1048A>G	c.(1048-1050)ATC>GTC	p.I350V		NM_006753	NP_006744	O75683	SURF6_HUMAN	surfeit 6	350						granular component	DNA binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		TGCGGCAGGATGCGGCCCTTC	0.701													C	136198743	T	C	136198743	3	2	27	1	0	0	0	0	1	0	0	0	15403	1464	51	3	41	3	SURF6	9	136198743	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	256803	136198743	5014688	4664	28615											
ADAMTSL2	9719	broad.mit.edu	37	chr9	136402566	136402566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atagcctggaggggggcaccGacgccacggccttctggtgg	17	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:136402566G>A	uc011mdl.1	+	3	687	c.130G>A	c.(130-132)GAC>AAC	p.D44N	ADAMTSL2_uc004cei.2_Missense_Mutation_p.D44N	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN	ADAMTS-like 2 precursor	44					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GGGGGGCACCGACGCCACGGC	0.672													A	136402566	G	A	136402566	3	1	27	1	0	0	0	0	1	0	0	0	275	1058	37	1	136	1	ADAMTSL2	9	136402566	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	203823	136402566	4810865	4665	28616											
ADAMTSL2	9719	broad.mit.edu	37	chr9	136412226	136412226	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggacagccccaagaactTcaacatcgcaggcacggtgg	13	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:136412226T>C	uc011mdl.1	+	9	1387	c.830T>C	c.(829-831)TTC>TCC	p.F277S	ADAMTSL2_uc004cei.2_Missense_Mutation_p.F277S	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN	ADAMTS-like 2 precursor	277					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CCCAAGAACTTCAACATCGCA	0.577													C	136412226	T	C	136412226	3	2	27	1	0	0	0	0	1	0	0	0	275	1783	62	3	860	3	ADAMTSL2	9	136412226	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9660	136412226	4801205	4666	28617											
SARDH	1757	broad.mit.edu	37	chr9	136529132	136529132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctcttcacaaagtccagcGagacctaggagcagaggtgg	13	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:136529132G>A	uc004cep.3	-	21	2770	c.2636C>T	c.(2635-2637)TCG>TTG	p.S879L	SARDH_uc004ceo.2_Missense_Mutation_p.S879L|SARDH_uc011mdn.1_Missense_Mutation_p.S879L|SARDH_uc011mdo.1_Missense_Mutation_p.S711L|SARDH_uc004cen.2_Missense_Mutation_p.S329L	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	879					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		AAAGTCCAGCGAGACCTAGGA	0.582													A	136529132	G	A	136529132	3	1	27	1	0	0	0	0	1	0	0	0	13841	1059	37	1	124	1	SARDH	9	136529132	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	116906	136529132	4684299	4667	28618											
SARDH	1757	broad.mit.edu	37	chr9	136555518	136555518	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacctggctgggccctggaTactgatcatacccaggtcct	10	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:136555518T>C	uc004cep.3	-	16	2187	c.2053A>G	c.(2053-2055)ATC>GTC	p.I685V	SARDH_uc004ceo.2_Missense_Mutation_p.I685V|SARDH_uc011mdn.1_Missense_Mutation_p.I685V|SARDH_uc011mdo.1_Missense_Mutation_p.I517V|SARDH_uc004cen.2_Missense_Mutation_p.I113V	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	685					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGGCCCTGGATACTGATCATA	0.642													C	136555518	T	C	136555518	3	2	27	1	0	0	0	0	1	0	0	0	13841	1406	49	3	727	3	SARDH	9	136555518	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	26386	136555518	4657913	4668	28619											
VAV2	7410	broad.mit.edu	37	chr9	136650998	136650998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgaattaggtagaagcCgtaggaccactgcagggggg	17	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:136650998C>T	uc004ces.2	-	17	1478	c.1432G>A	c.(1432-1434)GGC>AGC	p.G478S	VAV2_uc004cer.2_Missense_Mutation_p.G468S|VAV2_uc004cet.1_Missense_Mutation_p.G17S	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	478	PH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		AGGTAGAAGCCGTAGGACCAC	0.517													T	136650998	C	T	136650998	3	4	27	1	0	0	0	0	1	0	0	0	17129	652	23	1	1260	1	VAV2	9	136650998	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	95480	136650998	4562433	4669	28620											
VAV2	7410	broad.mit.edu	37	chr9	136656961	136656961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaaggtctccttgtcccGtttaacttcattgatgtaca	6	12	3	1	rs142018797		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:136656961G>A	uc004ces.2	-	13	1178	c.1132C>T	c.(1132-1134)CGG>TGG	p.R378W	VAV2_uc004cer.2_Missense_Mutation_p.R373W|VAV2_uc004cet.1_5'Flank	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	378					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TCCTTGTCCCGTTTAACTTCA	0.488													A	136656961	G	A	136656961	3	1	27	1	0	0	0	0	1	0	0	0	17129	1144	40	1	1576	1	VAV2	9	136656961	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5963	136656961	4556470	4670	28621											
VAV2	7410	broad.mit.edu	37	chr9	136662845	136662845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttacctcgactttctgcCtgaagtcctcccggctggcc	9	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:136662845C>T	uc004ces.2	-	10	969	c.923G>A	c.(922-924)AGG>AAG	p.R308K	VAV2_uc004cer.2_Missense_Mutation_p.R303K	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	308	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GACTTTCTGCCTGAAGTCCTC	0.612													T	136662845	C	T	136662845	3	4	27	1	0	0	0	0	1	0	0	0	17129	681	24	4	1797	4	VAV2	9	136662845	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5884	136662845	4550586	4671	28622											
BRD3	8019	broad.mit.edu	37	chr9	136901428	136901428	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggaggcagatgcctgcttGccgcctttcttcagctgtct	11	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:136901428G>A	uc004cew.2	-	10	1850	c.1662C>T	c.(1660-1662)GGC>GGT	p.G554G	BRD3_uc004cex.2_3'UTR	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	554	Lys-rich.					nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		ATGCCTGCTTGCCGCCTTTCT	0.607			T	NUT|C15orf55	lethal midline carcinoma of young people								A	136901428	G	A	136901428	2	1	27	1	0	0	0	0	0	0	0	1	1503	1306	46	2		2	BRD3	9	136901428	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	238583	136901428	4312003	4672	28623											
BRD3	8019	broad.mit.edu	37	chr9	136917543	136917543	+	Frame_Shift_Del	DEL	T	T	-													tagtccccatatccattgggTttttaattattttatgataa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:136917542_136917542GT>G	uc004cew.3	-	2	425	c.237_237AC>C	c.(235-237)aacfs	p.N79fs	BRD3_uc004cex.2_Frame_Shift_Del_p.N79fs	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	79	Bromo 1.					nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TATCCATTGGGTTTTTAATTA	0.338			T	C15orf55	lethal midline carcinoma of young people								-	136917543	T	-	136917543	7	5	27	1	0	1	0	1	0	0	0	0	1503	1725	60	0	1984	0	BRD3	9	136917543	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	16115	136917543	4295888	4673	28624											
BRD3	8019	broad.mit.edu	37	chr9	136918499	136918499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcagctggttggtcttgCggccgggcttgctggggttg	18	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:136918499C>T	uc004cew.2	-	2	289	c.101G>A	c.(100-102)CGC>CAC	p.R34H	BRD3_uc004cex.2_Missense_Mutation_p.R34H	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	34						nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GTTGGTCTTGCGGCCGGGCTT	0.657			T	NUT|C15orf55	lethal midline carcinoma of young people								T	136918499	C	T	136918499	3	4	27	1	0	0	0	0	1	0	0	0	1503	768	27	1	2123	1	BRD3	9	136918499	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	956	136918499	4294932	4674	28625											
COL5A1	1289	broad.mit.edu	37	chr9	137591897	137591897	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctctcccgtcttcctctaCgaggaccacacggggaagcc	10	17	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:137591897C>T	uc004cfe.2	+	3	802	c.420C>T	c.(418-420)TAC>TAT	p.Y140Y		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	140	TSP N-terminal.|Laminin G-like.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCTTCCTCTACGAGGACCACA	0.607													T	137591897	C	T	137591897	2	4	27	1	0	0	0	0	0	0	0	1	3696	547	19	1		1	COL5A1	9	137591897	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	673398	137591897	3621534	4675	28626											
COL5A1	1289	broad.mit.edu	37	chr9	137658311	137658311	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtacacagggtgtcacgggTatggacggccagccggggcc	17	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:137658311T>C	uc004cfe.2	+	22	2482	c.2100T>C	c.(2098-2100)GGT>GGC	p.G700G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	700	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GTGTCACGGGTATGGACGGCC	0.537													C	137658311	T	C	137658311	2	2	27	1	0	0	0	0	0	0	0	1	3696	1625	57	3		3	COL5A1	9	137658311	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	66414	137658311	3555120	4676	28627											
KIAA0649	9858	broad.mit.edu	37	chr9	138377887	138377887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccctgtccgcaagcccaCtcttctactccccgaacgtg	8	18	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:138377887C>T	uc004cfr.1	+	4	2080	c.1531C>T	c.(1531-1533)CTC>TTC	p.L511F		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	511						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		CGCAAGCCCACTCTTCTACTC	0.592													T	138377887	C	T	138377887	3	4	27	1	0	0	0	0	1	0	0	0	8187	565	20	4	1533	4	KIAA0649	9	138377887	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	719576	138377887	2835544	4677	28628											
LCN1	3933	broad.mit.edu	37	chr9	138413364	138413364	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaagcccctgctcctggcCgtcagccttggcctcattgc	10	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:138413364C>T	uc004cfz.1	+	1	79	c.21C>T	c.(19-21)GCC>GCT	p.A7A	LCN1_uc004cga.1_Silent_p.A7A	NM_002297	NP_002288	P31025	LCN1_HUMAN	lipocalin 1 precursor	7					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		TGCTCCTGGCCGTCAGCCTTG	0.667													T	138413364	C	T	138413364	2	4	27	1	0	0	0	0	0	0	0	1	8680	639	23	1		1	LCN1	9	138413364	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	35477	138413364	2800067	4678	28629											
KCNT1	57582	broad.mit.edu	37	chr9	138594154	138594154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggggcgtctgccgggaggCgcgcggcgggggctacacca	22	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:138594154C>T	uc011mdq.1	+	1	124	c.50C>T	c.(49-51)GCG>GTG	p.A17V	KCNT1_uc011mdr.1_5'UTR|KCNT1_uc010nbf.2_Missense_Mutation_p.A17V|SOHLH1_uc010nbe.2_5'Flank|SOHLH1_uc004cgl.2_5'Flank	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	17						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		tgccgggaggcgcgcggcggg	0.532													T	138594154	C	T	138594154	3	4	27	1	0	0	0	0	1	0	0	0	8091	768	27	1	52	1	KCNT1	9	138594154	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	180790	138594154	2619277	4679	28630											
CAMSAP1	157922	broad.mit.edu	37	chr9	138707746	138707746	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgccgtcacctgtgtactcGgccactgaggccagggaaga	13	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:138707746G>T	uc004cgr.3	-	15	4377	c.4377C>A	c.(4375-4377)GCC>GCA	p.A1459A	CAMSAP1_uc004cgq.3_Silent_p.A1349A|CAMSAP1_uc010nbg.2_Silent_p.A1181A	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1459						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTGTGTACTCGGCCACTGAGG	0.577													T	138707746	G	T	138707746	2	4	27	1	0	0	0	0	0	0	0	1	2611	1103	39	5		5	CAMSAP1	9	138707746	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	113592	138707746	2505685	4680	28631											
CAMSAP1	157922	broad.mit.edu	37	chr9	138713275	138713275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgcccgtgggagagagtgGctccacgaagtggactggtg	17	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:138713275G>A	uc004cgr.3	-	11	3232	c.3232C>T	c.(3232-3234)CCA>TCA	p.P1078S	CAMSAP1_uc004cgq.3_Missense_Mutation_p.P968S|CAMSAP1_uc010nbg.2_Missense_Mutation_p.P800S	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1078						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGAGAGAGTGGCTCCACGAAG	0.622													A	138713275	G	A	138713275	3	1	27	1	0	0	0	0	1	0	0	0	2611	1203	42	2	1604	2	CAMSAP1	9	138713275	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5529	138713275	2500156	4681	28632											
CAMSAP1	157922	broad.mit.edu	37	chr9	138713714	138713714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctttgcaaagtgctccggCctgaggggtggggcagcctc	15	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:138713714C>T	uc004cgr.3	-	11	2793	c.2793G>A	c.(2791-2793)AGG>AGA	p.R931R	CAMSAP1_uc004cgq.3_Silent_p.R821R|CAMSAP1_uc010nbg.2_Silent_p.R653R	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	931						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AGTGCTCCGGCCTGAGGGGTG	0.602													T	138713714	C	T	138713714	2	4	27	1	0	0	0	0	0	0	0	1	2611	738	26	2		2	CAMSAP1	9	138713714	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	439	138713714	2499717	4682	28633											
PMPCA	23203	broad.mit.edu	37	chr9	139306576	139306576	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggacaggaaaagtttgaaAccaaagtaaccacattggat	9	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:139306576A>G	uc004chl.2	+	2	204	c.199A>G	c.(199-201)ACC>GCC	p.T67A	SDCCAG3_uc004chi.2_5'Flank|SDCCAG3_uc004chj.2_5'Flank|SDCCAG3_uc004chk.2_5'Flank|PMPCA_uc011mdy.1_Missense_Mutation_p.T67A|PMPCA_uc010nbk.2_RNA|PMPCA_uc010nbl.2_5'UTR|PMPCA_uc011mdz.1_5'UTR	NM_015160	NP_055975	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	67					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		AAAGTTTGAAACCAAAGTAAC	0.458													G	139306576	A	G	139306576	3	3	27	1	0	0	0	0	1	0	0	0	12140	43	2	3	205	3	PMPCA	9	139306576	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	592862	139306576	1906855	4683	28634											
INPP5E	56623	broad.mit.edu	37	chr9	139326422	139326422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagaacacctcatcgaagCgggtggtgacgtccgctgcg	13	13	1	2	rs112089228		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:139326422C>T	uc004cho.2	-	7	1788	c.1403G>A	c.(1402-1404)CGC>CAC	p.R468H	INPP5E_uc010nbm.2_Missense_Mutation_p.R467H	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase E	468						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			skin(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		CTCATCGAAGCGGGTGGTGAC	0.657													T	139326422	C	T	139326422	3	4	27	1	0	0	0	0	1	0	0	0	7757	768	27	1	547	1	INPP5E	9	139326422	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	19846	139326422	1887009	4684	28635											
NOTCH1	4851	broad.mit.edu	37	chr9	139390958	139390958	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcggctgtggtggtggtggTggcggctgcaggctttgctg	21	7	0	0	rs11574911	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:139390958T>C	uc004chz.2	-	34	7233	c.7233A>G	c.(7231-7233)CCA>CCG	p.P2411P		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2411	Cytoplasmic (Potential).|Poly-Pro.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.P2412P(1)|p.P2411fs*12(1)|p.P2412del(1)		haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGGTGGTGGTGGCGGCTGCA	0.642			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			C	139390958	T	C	139390958	2	2	27	1	0	0	0	0	0	0	0	1	10547	1683	59	3		3	NOTCH1	9	139390958	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	64536	139390958	1822473	4685	28636											
NOTCH1	4851	broad.mit.edu	37	chr9	139395101	139395101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgctggcctccagcaggCgcttggcggcatcagagcgt	15	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:139395101C>T	uc004chz.2	-	31	5837	c.5837G>A	c.(5836-5838)CGC>CAC	p.R1946H		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1946	Cytoplasmic (Potential).|ANK 1.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTCCAGCAGGCGCTTGGCGGC	0.657			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			T	139395101	C	T	139395101	3	4	27	1	0	0	0	0	1	0	0	0	10547	768	27	1	1846	1	NOTCH1	9	139395101	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4143	139395101	1818330	4686	28637											
NOTCH1	4851	broad.mit.edu	37	chr9	139404366	139404366	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgggcaggcagtcgcagaAggccgtgttgatgccgtctg	17	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:139404366A>G	uc004chz.2	-	18	2788	c.2788T>C	c.(2788-2790)TTC>CTC	p.F930L	NOTCH1_uc004cia.1_Missense_Mutation_p.F160L	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	930	Extracellular (Potential).|EGF-like 24.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGTCGCAGAAGGCCGTGTTG	0.647			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			G	139404366	A	G	139404366	3	3	27	1	0	0	0	0	1	0	0	0	10547	72	3	3	4947	3	NOTCH1	9	139404366	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	9265	139404366	1809065	4687	28638											
NOTCH1	4851	broad.mit.edu	37	chr9	139413179	139413179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagccgttgacacacacGcagttgtagccaccgtgggt	12	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:139413179G>A	uc004chz.2	-	6	963	c.963C>T	c.(961-963)TGC>TGT	p.C321C		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	321	Extracellular (Potential).|EGF-like 8; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGACACACACGCAGTTGTAGC	0.617			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			A	139413179	G	A	139413179	2	1	27	1	0	0	0	0	0	0	0	1	10547	1079	38	1		1	NOTCH1	9	139413179	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	8813	139413179	1800252	4688	28639											
LCN10	414332	broad.mit.edu	37	chr9	139635324	139635324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtagttttgggttgcacGccccaggcggaggtagacca	14	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:139635324G>A	uc010nbq.2	-	3	459	c.400C>T	c.(400-402)CGT>TGT	p.R134C	LCN10_uc004civ.2_Missense_Mutation_p.R147C|LCN10_uc011med.1_Intron|LCN10_uc011mee.1_Intron|LCN10_uc011mef.1_Intron|LCN10_uc004ciw.2_RNA			Q6JVE6	LCN10_HUMAN	SubName: Full=LCN10 protein;	134					transport	extracellular region	binding			large_intestine(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		TGGGTTGCACGCCCCAGGCGG	0.468													A	139635324	G	A	139635324	3	1	27	1	0	0	0	0	1	0	0	0	8681	1087	38	1	175	1	LCN10	9	139635324	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	222145	139635324	1578107	4689	28640											
EDF1	8721	broad.mit.edu	37	chr9	139757745	139757745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcgcagcctcaccgtggCcaggtccttctgcgtaagcc	12	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:139757745C>T	uc004cjt.1	-	3	314	c.286G>A	c.(286-288)GCC>ACC	p.A96T	EDF1_uc004cju.1_Missense_Mutation_p.A96T	NM_003792	NP_003783	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	96	Interaction with TBP and NR5A1.|HTH cro/C1-type.|Interaction with NR5A2, PPARG and NR1H3.|H-T-H motif (Potential).				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|protein binding|sequence-specific DNA binding|transcription coactivator activity				0	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTCACCGTGGCCAGGTCCTTC	0.667													T	139757745	C	T	139757745	3	4	27	1	0	0	0	0	1	0	0	0	4914	739	26	2	207	2	EDF1	9	139757745	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	122421	139757745	1455686	4690	28641											
LCN12	286256	broad.mit.edu	37	chr9	139847450	139847450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgagctaagtgatgatgGccgctttgaggtgtggaatg	15	4	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:139847450G>A	uc004ckb.2	+	2	233	c.221G>A	c.(220-222)GGC>GAC	p.G74D	LCN12_uc004ckc.2_Missense_Mutation_p.G74D	NM_178536	NP_848631	Q6JVE5	LCN12_HUMAN	lipocalcin 12 precursor	74					lipid metabolic process	extracellular region	binding|transporter activity				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		AGTGATGATGGCCGCTTTGAG	0.637													A	139847450	G	A	139847450	3	1	27	1	0	0	0	0	1	0	0	0	8682	1203	42	2	227	2	LCN12	9	139847450	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	89705	139847450	1365981	4691	28642											
FUT7	2529	broad.mit.edu	37	chr9	139925299	139925299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcacgccaggcaaagaAgcgttggtatcggctctcat	11	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:139925299A>G	uc004ckq.2	-	2	1741	c.892T>C	c.(892-894)TTC>CTC	p.F298L	ABCA2_uc011mel.1_5'Flank|ABCA2_uc011mem.1_5'Flank|ABCA2_uc004ckl.1_5'Flank|ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron	NM_004479	NP_004470	Q11130	FUT7_HUMAN	fucosyltransferase 7	298	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity				0	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CAGGCAAAGAAGCGTTGGTAT	0.612													G	139925299	A	G	139925299	3	3	27	1	0	0	0	0	1	0	0	0	6109	72	3	3	140	3	FUT7	9	139925299	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	77849	139925299	1288132	4692	28643											
GRIN1	2902	broad.mit.edu	37	chr9	140055611	140055611	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcgacccagtcaagaaggTgatctgcaccgggcccaacg	13	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:140055611T>C	uc004clk.2	+	9	1631	c.1301T>C	c.(1300-1302)GTG>GCG	p.V434A	GRIN1_uc004cli.1_Missense_Mutation_p.V109A|GRIN1_uc004clj.1_Missense_Mutation_p.V431A|GRIN1_uc004cll.2_Missense_Mutation_p.V434A|GRIN1_uc004clm.2_Missense_Mutation_p.V434A|GRIN1_uc004cln.2_Missense_Mutation_p.V452A|GRIN1_uc004clo.2_Missense_Mutation_p.V452A	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	434	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			skin(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GTCAAGAAGGTGATCTGCACC	0.473													C	140055611	T	C	140055611	3	2	27	1	0	0	0	0	1	0	0	0	6778	1696	59	3	1402	3	GRIN1	9	140055611	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	130312	140055611	1157820	4693	28644											
ANAPC2	29882	broad.mit.edu	37	chr9	140082263	140082263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccatcagcaagcccaggCgagtccatttctccagcagc	9	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:140082263C>T	uc004clr.1	-	2	483	c.410G>A	c.(409-411)CGC>CAC	p.R137H	ANAPC2_uc004clq.1_5'UTR|ANAPC2_uc011mer.1_Missense_Mutation_p.R137H|SSNA1_uc004cls.2_5'Flank	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	anaphase-promoting complex subunit 2	137					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CAAGCCCAGGCGAGTCCATTT	0.582													T	140082263	C	T	140082263	3	4	27	1	0	0	0	0	1	0	0	0	603	768	27	1	2106	1	ANAPC2	9	140082263	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	26652	140082263	1131168	4694	28645											
SLC34A3	142680	broad.mit.edu	37	chr9	140127157	140127157	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccttccagctgctgggcagTgagtgacgggacgggtgccc	17	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:140127157T>C	uc004cmf.1	+	4	490	c.304_splice	c.e4+2	p.S102_splice	SLC34A3_uc004cmc.1_Splice_Site|SLC34A3_uc004cmd.1_Splice_Site_p.S102_splice|SLC34A3_uc011met.1_Splice_Site_p.S102_splice	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	solute carrier family 34 (sodium phosphate),						cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGCTGGGCAGTGAGTGACGGG	0.667													C	140127157	T	C	140127157	5	2	27	1	0	0	0	0	0	0	1	0	14569	1710	59	3	316	3	SLC34A3	9	140127157	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	44894	140127157	1086274	4695	28646											
NELF	26012	broad.mit.edu	37	chr9	140347525	140347525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatgacctttggtggcaCgaagccttcggtgtcgcagg	13	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:140347525C>T	uc004cna.2	-	9	1262	c.1030G>A	c.(1030-1032)GTG>ATG	p.V344M	C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_Missense_Mutation_p.V141M|NELF_uc010nci.2_Missense_Mutation_p.V88M|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Missense_Mutation_p.V321M|NELF_uc004cmz.2_Missense_Mutation_p.V342M|NELF_uc004cnc.2_Missense_Mutation_p.V319M|NELF_uc004cnb.2_Missense_Mutation_p.V314M	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	nasal embryonic LHRH factor isoform a	344						nucleus|plasma membrane					0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)		TTTGGTGGCACGAAGCCTTCG	0.672													T	140347525	C	T	140347525	3	4	27	1	0	0	0	0	1	0	0	0	10332	536	19	1	594	1	NELF	9	140347525	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	220368	140347525	865906	4696	28647											
ZMYND19	116225	broad.mit.edu	37	chr9	140476996	140476996	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtgtggctcccctgcccgtCatcgctctggctcaagctca	10	16	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:140476996C>T	uc004cno.1	-	6	905	c.683G>A	c.(682-684)TGA>TAA	p.*228*		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	zinc finger, MYND domain containing 19	228						Golgi apparatus|plasma membrane	zinc ion binding			skin(1)	1	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCCTGCCCGTCATCGCTCTGG	0.617													T	140476996	C	T	140476996	2	4	27	1	0	0	0	0	0	0	0	1	17707	837	29	4		4	ZMYND19	9	140476996	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	129471	140476996	736435	4697	28648											
ZMYND19	116225	broad.mit.edu	37	chr9	140477035	140477035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgctggaagggacgcttcCtctcccgacagtgcttcttg	11	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:140477035C>T	uc004cno.1	-	6	866	c.644G>A	c.(643-645)AGG>AAG	p.R215K		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	zinc finger, MYND domain containing 19	215						Golgi apparatus|plasma membrane	zinc ion binding			skin(1)	1	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		GGGACGCTTCCTCTCCCGACA	0.647													T	140477035	C	T	140477035	3	4	27	1	0	0	0	0	1	0	0	0	17707	681	24	4	43	4	ZMYND19	9	140477035	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	39	140477035	736396	4698	28649											
ARRDC1	92714	broad.mit.edu	37	chr9	140507931	140507931	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagcctgcccgctggagaGcacagcttccccttccagtt	12	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:140507931G>A	uc004cns.2	+	3	323	c.249G>A	c.(247-249)GAG>GAA	p.E83E	ARRDC1_uc004cnt.2_5'UTR|ARRDC1_uc004cnu.2_RNA|ARRDC1_uc004cnv.2_Silent_p.E46E|ARRDC1_uc004cnw.2_5'UTR|ARRDC1_uc004cnp.1_Silent_p.E83E|ARRDC1_uc004cnq.1_Silent_p.E83E|ARRDC1_uc011mfb.1_5'UTR|ARRDC1_uc004cnx.1_5'UTR|ARRDC1_uc004cny.2_5'Flank	NM_152285	NP_689498	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	83											0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CCGCTGGAGAGCACAGCTTCC	0.667													A	140507931	G	A	140507931	2	1	27	1	0	0	0	0	0	0	0	1	982	962	34	2		2	ARRDC1	9	140507931	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	30896	140507931	705500	4699	28650											
ARRDC1	92714	broad.mit.edu	37	chr9	140509383	140509383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctactttgcagagggctccGgggggccagtgcccactacc	13	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:140509383G>A	uc004cns.2	+	7	1242	c.1168G>A	c.(1168-1170)GGG>AGG	p.G390R	ARRDC1_uc004cnt.2_Missense_Mutation_p.G265R|ARRDC1_uc004cnu.2_RNA|ARRDC1_uc004cnv.2_Missense_Mutation_p.G370R|ARRDC1_uc004cnw.2_Missense_Mutation_p.G265R|ARRDC1_uc004cnp.1_Missense_Mutation_p.G390R|ARRDC1_uc004cnq.1_Missense_Mutation_p.G372R|ARRDC1_uc011mfb.1_Missense_Mutation_p.G265R|ARRDC1_uc004cnx.1_Missense_Mutation_p.G265R|ARRDC1_uc004cny.2_Intron	NM_152285	NP_689498	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	390	Pro-rich.										0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		AGAGGGCTCCGGGGGGCCAGT	0.627													A	140509383	G	A	140509383	3	1	27	1	0	0	0	0	1	0	0	0	982	1116	39	1	1194	1	ARRDC1	9	140509383	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1452	140509383	704048	4700	28651											
EHMT1	79813	broad.mit.edu	37	chr9	140671153	140671153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgagtcaataacgccagCtattgtccccactgtgggga	10	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:140671153C>T	uc011mfc.1	+	12	1912	c.1875C>T	c.(1873-1875)AGC>AGT	p.S625S	EHMT1_uc004coa.2_Silent_p.S625S|EHMT1_uc004cob.1_Silent_p.S594S	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	625					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ATAACGCCAGCTATTGTCCCC	0.542													T	140671153	C	T	140671153	2	4	27	1	0	0	0	0	0	0	0	1	4983	796	28	2		2	EHMT1	9	140671153	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	161770	140671153	542278	4701	28652											
CACNA1B	774	broad.mit.edu	37	chr9	140948380	140948380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcttcatgttcatatttgCcgtcattgcggtgcagctct	9	11	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr9:140948380C>T	uc004cog.2	+	26	4035	c.3890C>T	c.(3889-3891)GCC>GTC	p.A1297V	CACNA1B_uc011mfd.1_Missense_Mutation_p.A827V|CACNA1B_uc004coi.2_Missense_Mutation_p.A511V	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1297	Helical; Name=S5 of repeat III; (Potential).|III.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TTCATATTTGCCGTCATTGCG	0.498													T	140948380	C	T	140948380	3	4	27	1	0	0	0	0	1	0	0	0	2539	739	26	2	3992	2	CACNA1B	9	140948380	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	277227	140948380	265051	4702	28653											
TUBB8	347688	broad.mit.edu	37	chr10	94047	94047	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccagttgtttccggccccAcactgacctgtaagacagca	9	15	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:94047A>G	uc001ifi.2	-	4	285	c.285T>C	c.(283-285)TGT>TGC	p.C95C	TUBB8_uc009xhe.2_Silent_p.C58C|TUBB8_uc010pzs.1_Silent_p.C23C	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 isoform 1	95					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TTCCGGCCCCACACTGACCTG	0.567													G	94047	A	G	94047	2	3	27	1	0	0	0	0	0	0	0	1	16758	157	6	3		3	TUBB8	10	94047	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08		94047	135440700	4703	28654											
ZMYND11	10771	broad.mit.edu	37	chr10	294540	294540	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcgtgttgtccgagaagctCtggagaaggtaatgcttgtc	14	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:294540C>A	uc010pzt.1	+	13	1920	c.1492C>A	c.(1492-1494)CTG>ATG	p.L498M	ZMYND11_uc001ifk.2_Missense_Mutation_p.L497M|ZMYND11_uc010pzu.1_Missense_Mutation_p.L498M|ZMYND11_uc010pzv.1_Missense_Mutation_p.L443M|ZMYND11_uc010pzw.1_Missense_Mutation_p.L413M|ZMYND11_uc001ifm.2_Missense_Mutation_p.L444M|ZMYND11_uc010pzx.1_Missense_Mutation_p.L498M|ZMYND11_uc001ifn.2_Missense_Mutation_p.L444M|ZMYND11_uc009xhg.2_Missense_Mutation_p.L481M|ZMYND11_uc009xhh.2_Missense_Mutation_p.L372M|ZMYND11_uc010pzy.1_Missense_Mutation_p.L350M	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	458	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCGAGAAGCTCTGGAGAAGGT	0.537													A	294540	C	A	294540	3	1	27	1	0	0	0	0	1	0	0	0	17703	912	32	5	1538	5	ZMYND11	10	294540	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	200493	294540	135240207	4704	28655											
DIP2C	22982	broad.mit.edu	37	chr10	445117	445117	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggcagccgtagaaagccgCcatgaaggcagccggatcat	13	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:445117C>A	uc001ifp.2	-	10	1282	c.1192G>T	c.(1192-1194)GCG>TCG	p.A398S	DIP2C_uc009xhj.1_Missense_Mutation_p.A94S	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	398						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TAGAAAGCCGCCATGAAGGCA	0.627													A	445117	C	A	445117	3	1	27	1	0	0	0	0	1	0	0	0	4529	739	26	5	3590	5	DIP2C	10	445117	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	150577	445117	135089630	4705	28656											
DIP2C	22982	broad.mit.edu	37	chr10	468784	468784	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtgggtctgagccatgAcgtccgccagcctgtgggca	14	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:468784A>G	uc001ifp.2	-	5	674	c.584T>C	c.(583-585)GTC>GCC	p.V195A	DIP2C_uc009xhk.1_Missense_Mutation_p.S197P	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	195						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGAGCCATGACGTCCGCCAG	0.607													G	468784	A	G	468784	3	3	27	1	0	0	0	0	1	0	0	0	4529	275	10	3	4218	3	DIP2C	10	468784	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	23667	468784	135065963	4706	28657											
ADARB2	105	broad.mit.edu	37	chr10	1779250	1779250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgcggtccttacctttcCgcttggacctccgcctcctc	7	20	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:1779250C>T	uc009xhq.2	-	1	469	c.95G>A	c.(94-96)CGG>CAG	p.R32Q		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	32					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CTTACCTTTCCGCTTGGACCT	0.677													T	1779250	C	T	1779250	3	4	27	1	0	0	0	0	1	0	0	0	283	652	23	1	2164	1	ADARB2	10	1779250	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1310466	1779250	133755497	4707	28658											
PFKP	5214	broad.mit.edu	37	chr10	3151612	3151612	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccggacaccccagcttgCgtcgtgtcactgaacgggaa	11	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:3151612C>T	uc001igp.2	+	10	1065	c.1029C>T	c.(1027-1029)TGC>TGT	p.C343C	PFKP_uc001igq.2_Silent_p.C335C|PFKP_uc009xhr.2_Silent_p.C305C|PFKP_uc009xhs.1_Silent_p.C127C|PFKP_uc009xht.2_Silent_p.C81C	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	343					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CCCCAGCTTGCGTCGTGTCAC	0.672													T	3151612	C	T	3151612	2	4	27	1	0	0	0	0	0	0	0	1	11766	776	27	1		1	PFKP	10	3151612	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1372362	3151612	132383135	4708	28659											
PITRM1	10531	broad.mit.edu	37	chr10	3200266	3200267	+	Frame_Shift_Ins	INS	-	-	T													atcgttctgtctatgaggctINStctgacggtctcaatgtctt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:3200265_3200266C>CT	uc009xhv.2	-	10	1285_1286	c.1216_1217G>AG	c.(1216-1218)agcfs	p.S406fs	PITRM1_uc001igr.2_Frame_Shift_Ins_p.S406fs|PITRM1_uc001igt.2_Frame_Shift_Ins_p.S406fs|PITRM1_uc010qah.2_Frame_Shift_Ins_p.S374fs|PITRM1_uc001igu.1_Frame_Shift_Ins_p.S398fs|PITRM1_uc010qai.2_Frame_Shift_Ins_p.S377fs	NM_001242307	NP_001229236	E7ES23	E7ES23_HUMAN	Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	374					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GTCTATGAGGCTTCTGACGGTC	0.446													T	3200267	-	T	3200266	7	5	27	1	0	1	1	0	0	0	0	0	11953	1609	56	0	1965	0	PITRM1	10	3200266	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	48654	3200266	132334481	4709	28660											
KLF6	1316	broad.mit.edu	37	chr10	3822350	3822350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggtgtgctttcggaagtGcctggttaactcatcacttc	10	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:3822350G>A	uc001iha.2	-	3	1015	c.748C>T	c.(748-750)CAC>TAC	p.H250Y	KLF6_uc010qaj.1_Intron|KLF6_uc010qak.1_RNA|KLF6_uc010qal.1_Missense_Mutation_p.H208Y	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Kruppel-like factor 6 isoform A	250	C2H2-type 2.				B cell differentiation	nucleus	zinc ion binding			central_nervous_system(3)|lung(1)	4				Colorectal(1;0.238)		TTTCGGAAGTGCCTGGTTAAC	0.557													A	3822350	G	A	3822350	3	1	27	1	0	0	0	0	1	0	0	0	8350	1319	46	2	111	2	KLF6	10	3822350	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	622084	3822350	131712397	4710	28661											
TUBAL3	79861	broad.mit.edu	37	chr10	5435860	5435860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctatagagtaggcagcaggCcatgtacttcccaagccgag	11	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:5435860C>T	uc001ihy.2	-	4	1001	c.961G>A	c.(961-963)GCC>ACC	p.A321T	TUBAL3_uc001ihz.2_Missense_Mutation_p.A281T	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	321					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1						AGGCAGCAGGCCATGTACTTC	0.532													T	5435860	C	T	5435860	3	4	27	1	0	0	0	0	1	0	0	0	16748	739	26	2	383	2	TUBAL3	10	5435860	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1613510	5435860	130098887	4711	28662											
CALML5	51806	broad.mit.edu	37	chr10	5541029	5541029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcctggtccacgtcggcctCgcggatcatggcgtccagct	13	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:5541029C>T	uc001iic.2	-	1	505	c.373G>A	c.(373-375)GAG>AAG	p.E125K		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	125	EF-hand 4.				epidermis development|signal transduction		calcium ion binding|protein binding				0						ACGTCGGCCTCGCGGATCATG	0.716													T	5541029	C	T	5541029	3	4	27	1	0	0	0	0	1	0	0	0	2589	893	31	1	71	1	CALML5	10	5541029	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	105169	5541029	129993718	4712	28663											
C10orf18	54906	broad.mit.edu	37	chr10	5773004	5773004	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtcaaatctgagagtgCagcctaagaggaaggccagc	13	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:5773004C>T	uc001iij.2	+	11	1667	c.1042C>T	c.(1042-1044)CAG>TAG	p.Q348*	C10orf18_uc001iik.2_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	348										ovary(1)|central_nervous_system(1)	2						TCTGAGAGTGCAGCCTAAGAG	0.448													T	5773004	C	T	5773004	4	4	27	1	0	0	0	0	0	1	0	0	1596	711	25	2	1072	2	C10orf18	10	5773004	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	231975	5773004	129761743	4713	28664											
C10orf18	54906	broad.mit.edu	37	chr10	5798695	5798695	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagatatatcatcacatttGcatcaggtcggttggaaata	9	6	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:5798695G>A	uc001iij.2	+	16	7351	c.6726G>A	c.(6724-6726)TTG>TTA	p.L2242L	C10orf18_uc001iik.2_Silent_p.L1086L	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	2242										ovary(1)|central_nervous_system(1)	2						CATCACATTTGCATCAGGTCG	0.378													A	5798695	G	A	5798695	2	1	27	1	0	0	0	0	0	0	0	1	1596	1310	46	2		2	C10orf18	10	5798695	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	25691	5798695	129736052	4714	28665											
SFMBT2	57713	broad.mit.edu	37	chr10	7409612	7409612	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgaaacaggggctcaccGtccggcggcatcaacacctt	10	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:7409612G>A	uc009xio.1	-	4	526	c.435C>T	c.(433-435)GAC>GAT	p.D145D	SFMBT2_uc001ijn.1_Silent_p.D145D|SFMBT2_uc010qay.1_Silent_p.D145D|SFMBT2_uc001ijo.1_Silent_p.D145D	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	145					regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						GGGGCTCACCGTCCGGCGGCA	0.562													A	7409612	G	A	7409612	2	1	27	1	0	0	0	0	0	0	0	1	14158	1159	40	1		1	SFMBT2	10	7409612	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1610917	7409612	128125135	4715	28666											
ITIH5	80760	broad.mit.edu	37	chr10	7608186	7608186	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccagctccccaccaccacActctggttgcaggggagcac	9	19	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:7608186A>G	uc001ijq.2	-	13	2413	c.2334T>C	c.(2332-2334)AGT>AGC	p.S778S	ITIH5_uc001ijp.2_Silent_p.S564S	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	778					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						CCACCACCACACTCTGGTTGC	0.577													G	7608186	A	G	7608186	2	3	27	1	0	0	0	0	0	0	0	1	7907	156	6	3		3	ITIH5	10	7608186	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	198574	7608186	127926561	4716	28667											
ITIH5	80760	broad.mit.edu	37	chr10	7618579	7618579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctcacagccagggcctgGgcccgctgccgcagccgctc	13	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:7618579G>A	uc001ijq.2	-	10	1894	c.1815C>T	c.(1813-1815)GCC>GCT	p.A605A	ITIH5_uc001ijp.2_Silent_p.A391A|ITIH5_uc001ijr.1_Silent_p.A605A	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	605					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						CCAGGGCCTGGGCCCGCTGCC	0.647													A	7618579	G	A	7618579	2	1	27	1	0	0	0	0	0	0	0	1	7907	1219	43	4		4	ITIH5	10	7618579	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	10393	7618579	127916168	4717	28668											
ITIH5	80760	broad.mit.edu	37	chr10	7618800	7618800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatttcttactgttgctggCggtgacctccacgtgcaggt	12	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:7618800C>T	uc001ijq.2	-	10	1673	c.1594G>A	c.(1594-1596)GCC>ACC	p.A532T	ITIH5_uc001ijp.2_Missense_Mutation_p.A318T|ITIH5_uc001ijr.1_Missense_Mutation_p.A532T	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	532					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.A532P(1)		ovary(2)|central_nervous_system(2)	4						CTGTTGCTGGCGGTGACCTCC	0.567													T	7618800	C	T	7618800	3	4	27	1	0	0	0	0	1	0	0	0	7907	768	27	1	1377	1	ITIH5	10	7618800	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	221	7618800	127915947	4718	28669											
ITIH5	80760	broad.mit.edu	37	chr10	7657973	7657973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttggttcccaccatagaaGcactgctgtcaagcacgaat	9	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:7657973G>A	uc001ijq.2	-	7	990	c.911C>T	c.(910-912)GCT>GTT	p.A304V	ITIH5_uc001ijp.2_Missense_Mutation_p.A90V|ITIH5_uc001ijr.1_Missense_Mutation_p.A304V	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	304	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						CACCATAGAAGCACTGCTGTC	0.483													A	7657973	G	A	7657973	3	1	27	1	0	0	0	0	1	0	0	0	7907	971	34	2	2072	2	ITIH5	10	7657973	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	39173	7657973	127876774	4719	28670											
ITIH5	80760	broad.mit.edu	37	chr10	7679259	7679259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccagggatgcgatgcccGcgctctccaggatattcacg	11	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:7679259G>A	uc001ijq.2	-	5	663	c.584C>T	c.(583-585)GCG>GTG	p.A195V	ITIH5_uc001ijr.1_Missense_Mutation_p.A195V	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	195					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						TGCGATGCCCGCGCTCTCCAG	0.657													A	7679259	G	A	7679259	3	1	27	1	0	0	0	0	1	0	0	0	7907	1087	38	1	2421	1	ITIH5	10	7679259	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	21286	7679259	127855488	4720	28671											
KIN	22944	broad.mit.edu	37	chr10	7820934	7820934	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtttctgggtccctgtctAtgtactgaatataccagcct	8	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:7820934A>G	uc001ijt.2	-	5	473	c.425T>C	c.(424-426)ATA>ACA	p.I142T	KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Missense_Mutation_p.I142T|KIN_uc010qba.1_Missense_Mutation_p.I36T	NM_012311	NP_036443	O60870	KIN17_HUMAN	HsKin17 protein	142					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						GTCCCTGTCTATGTACTGAAT	0.403													G	7820934	A	G	7820934	3	3	27	1	0	0	0	0	1	0	0	0	8315	449	16	3	792	3	KIN	10	7820934	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	141675	7820934	127713813	4721	28672											
GATA3	2625	broad.mit.edu	37	chr10	8100631	8100631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggagtcgtcccactcccGtggcagcatgaccgccctgg	13	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:8100631G>A	uc001ika.2	+	3	1162	c.605G>A	c.(604-606)CGT>CAT	p.R202H	GATA3_uc001ijz.2_Missense_Mutation_p.R202H	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	202					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22						TCCCACTCCCGTGGCAGCATG	0.682			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						A	8100631	G	A	8100631	3	1	27	1	0	0	0	0	1	0	0	0	6255	1145	40	1	611	1	GATA3	10	8100631	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	279697	8100631	127434116	4722	28673											
MCM10	55388	broad.mit.edu	37	chr10	13224949	13224949	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagggaaaaaccttcagcaTatggaaactgaatgatcttc	8	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:13224949T>G	uc001ima.2	+	8	1051	c.950T>G	c.(949-951)ATA>AGA	p.I317R	MCM10_uc001imb.2_Missense_Mutation_p.I316R|MCM10_uc001imc.2_Missense_Mutation_p.I316R	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	317					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						ACCTTCAGCATATGGAAACTG	0.388													G	13224949	T	G	13224949	3	3	27	1	0	0	0	0	1	0	0	0	9385	1406	49	5	976	5	MCM10	10	13224949	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	5124318	13224949	122309798	4723	28674											
BEND7	222389	broad.mit.edu	37	chr10	13481460	13481460	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actagggtcaccgctgcactCccacccggcagaacagtgca	10	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:13481460C>T	uc001imm.2	-	9	1416	c.1119G>A	c.(1117-1119)GGG>GGA	p.G373G	BEND7_uc001iml.2_RNA	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	BEN domain containing 7 isoform 1	424							protein binding			ovary(1)|breast(1)	2						CCGCTGCACTCCCACCCGGCA	0.483													T	13481460	C	T	13481460	2	4	27	1	0	0	0	0	0	0	0	1	1403	842	30	4		4	BEND7	10	13481460	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	256511	13481460	122053287	4724	28675											
C10orf111	221060	broad.mit.edu	37	chr10	15138585	15138586	+	Frame_Shift_Ins	INS	-	-	C													cggccgcttcatcacttgtcINScccgactttgcagcgactcc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:15138584_15138585T>TC	uc001inw.3	-	1	513_514	c.239_240A>GA	c.(238-240)ggafs	p.G80fs	C10orf111_uc021pnj.1_Frame_Shift_Ins_p.G80fs|RPP38_uc001iny.4_5'Flank|RPP38_uc009xjm.3_5'Flank|RPP38_uc001inx.4_5'Flank	NM_153244	NP_694976	Q8N326	CJ111_HUMAN	Homo sapiens chromosome 10 open reading frame 111 (C10orf111), mRNA.	80						integral to membrane				lung(5)|upper_aerodigestive_tract(1)	6						TCATCACTTGTCCCCGACTTTG	0.515													C	15138586	-	C	15138585	7	5	27	1	0	1	1	0	0	0	0	0	1583	855	30	0	232	0	C10orf111	10	15138585	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	1657125	15138585	120396162	4725	28676											
NMT2	9397	broad.mit.edu	37	chr10	15210574	15210574	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggtcgtccagttccaggCtctgctggctggccgcagac	13	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:15210574C>A	uc001inz.1	-	1	122	c.38G>T	c.(37-39)AGC>ATC	p.S13I	NMT2_uc001ioa.1_5'UTR|NMT2_uc009xjo.1_Missense_Mutation_p.S13I	NM_004808	NP_004799	O60551	NMT2_HUMAN	N-myristoyltransferase 2	13					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			ovary(1)	1						CAGTTCCAGGCTCTGCTGGCT	0.736													A	15210574	C	A	15210574	3	1	27	1	0	0	0	0	1	0	0	0	10504	797	28	5	1506	5	NMT2	10	15210574	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	71989	15210574	120324173	4726	28677											
FAM171A1	221061	broad.mit.edu	37	chr10	15255494	15255494	+	Frame_Shift_Del	DEL	C	C	-													ggtgcggaagcggcttcccaCccccaagctccatcagggcc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:15255493_15255493AC>A	uc001iob.3	-	7	2101	c.2094_2094GT>T	c.(2092-2094)ggtfs	p.G698fs		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	698						integral to membrane		p.G697V(1)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCGGCTTCCCACCCCCAAGCT	0.572													-	15255494	C	-	15255494	7	5	27	1	0	1	0	1	0	0	0	0	5490	507	18	0	583	0	FAM171A1	10	15255494	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	44920	15255494	120279253	4727	28678											
FAM171A1	221061	broad.mit.edu	37	chr10	15256309	15256309	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaggagctcctcccgggaGctaaattcctgggaggtgct	15	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:15256309G>A	uc001iob.2	-	8	1285	c.1278C>T	c.(1276-1278)AGC>AGT	p.S426S		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	426	Cytoplasmic (Potential).					integral to membrane		p.S426R(1)		ovary(2)|breast(1)|skin(1)	4						CCTCCCGGGAGCTAAATTCCT	0.537													A	15256309	G	A	15256309	2	1	27	1	0	0	0	0	0	0	0	1	5490	962	34	2		2	FAM171A1	10	15256309	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	815	15256309	120278438	4728	28679											
FAM188A	80013	broad.mit.edu	37	chr10	15883459	15883459	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcaactagactctgcaggActcccagaaatactagcagt	9	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:15883459A>G	uc001iod.1	-	4	596	c.375T>C	c.(373-375)AGT>AGC	p.S125S	FAM188A_uc001ioe.1_5'UTR|FAM188A_uc001iof.1_Silent_p.S125S	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	chromosome 10 open reading frame 97	125					apoptosis	nucleus	calcium ion binding			ovary(1)	1						ACTCTGCAGGACTCCCAGAAA	0.348													G	15883459	A	G	15883459	2	3	27	1	0	0	0	0	0	0	0	1	5514	272	10	3		3	FAM188A	10	15883459	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	627150	15883459	119651288	4729	28680											
PTER	9317	broad.mit.edu	37	chr10	16528542	16528542	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctggacggagctccagggcAccatttcagattatccgaat	10	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:16528542A>T	uc001iog.1	+	4	831	c.624A>T	c.(622-624)GCA>GCT	p.A208A	PTER_uc001ioh.1_Silent_p.A208A|PTER_uc001ioi.1_Silent_p.A208A|PTER_uc009xjp.1_Silent_p.A208A	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	phosphotriesterase related	208					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			ovary(2)	2						GCTCCAGGGCACCATTTCAGA	0.483													T	16528542	A	T	16528542	2	4	27	1	0	0	0	0	0	0	0	1	12739	146	6	5		5	PTER	10	16528542	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	645083	16528542	119006205	4730	28681											
CUBN	8029	broad.mit.edu	37	chr10	16882941	16882941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctaatgttaagtcactgaTgaattgaaccgtaaggaagt	9	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:16882941T>C	uc001ioo.2	-	61	9821	c.9769A>G	c.(9769-9771)ATC>GTC	p.I3257V		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3257	CUB 24.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGTCACTGATGAATTGAACC	0.383													C	16882941	T	C	16882941	3	2	27	1	0	0	0	0	1	0	0	0	4051	1464	51	3	1130	3	CUBN	10	16882941	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	354399	16882941	118651806	4731	28682											
CUBN	8029	broad.mit.edu	37	chr10	17171227	17171228	+	Frame_Shift_Ins	INS	-	-	CT													gtaagaaacaccaaatttccINStctctctgtagccattcgag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:17171226_17171227C>CCT	uc001ioo.3	-	1	197_198	c.145_146G>AGG	c.(145-147)ggafs	p.G49fs		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	49					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CACCAAATTTCCTCTCTCTGTA	0.351													CT	17171228	-	CT	17171227	7	5	27	1	0	1	1	0	0	0	0	0	4051	690	24	0	10990	0	CUBN	10	17171227	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	288286	17171227	118363520	4732	28683											
TRDMT1	1787	broad.mit.edu	37	chr10	17195517	17195517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacataccgaactctggaGgaaatccaaggagatttgct	9	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:17195517G>A	uc001iop.2	-	10	1112	c.1064C>T	c.(1063-1065)CCT>CTT	p.P355L	TRDMT1_uc001ioq.2_Missense_Mutation_p.P331L|TRDMT1_uc001ior.2_Missense_Mutation_p.P309L|TRDMT1_uc001ios.2_Missense_Mutation_p.P284L|TRDMT1_uc009xjt.2_Missense_Mutation_p.P274L|TRDMT1_uc010qcc.1_Missense_Mutation_p.P284L|TRDMT1_uc010qcd.1_Missense_Mutation_p.P232L	NM_004412	NP_004403	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1 isoform	355					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			ovary(1)	1						GAACTCTGGAGGAAATCCAAG	0.373													A	17195517	G	A	17195517	3	1	27	1	0	0	0	0	1	0	0	0	16464	1000	35	4	119	4	TRDMT1	10	17195517	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	24290	17195517	118339230	4733	28684											
MRC1	4360	broad.mit.edu	37	chr10	17865224	17865224	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagattatgagtgttgcattTaaattatgcctgggagtgcc	11	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:17865224T>G	uc001ipk.2	+	2	316	c.213T>G	c.(211-213)TTT>TTG	p.F71L		NM_002438	NP_002429	P22897	MRC1_HUMAN	mannose receptor C type 1 precursor	71	Extracellular (Potential).|Ricin B-type lectin.				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity				0						GTGTTGCATTTAAATTATGCC	0.463													G	17865224	T	G	17865224	3	3	27	1	0	0	0	0	1	0	0	0	9756	1751	61	5	219	5	MRC1	10	17865224	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	669707	17865224	117669523	4734	28685											
MRC1	4360	broad.mit.edu	37	chr10	17891615	17891615	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctactcactgtcctagtcagTggtggccgtatgccggtcac	11	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:17891615T>A	uc001ipk.2	+	7	1199	c.1096T>A	c.(1096-1098)TGG>AGG	p.W366R		NM_002438	NP_002429	P22897	MRC1_HUMAN	mannose receptor C type 1 precursor	366	Extracellular (Potential).				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity				0						TCCTAGTCAGTGGTGGCCGTA	0.398													A	17891615	T	A	17891615	3	1	27	1	0	0	0	0	1	0	0	0	9756	1696	59	5	1122	5	MRC1	10	17891615	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	26391	17891615	117643132	4735	28686											
CACNB2	783	broad.mit.edu	37	chr10	18789845	18789845	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatgaggctgcagcatgaAcagagagccaagcaagggaa	13	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:18789845A>G	uc001ipr.2	+	5	621	c.561A>G	c.(559-561)GAA>GAG	p.E187E	CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Silent_p.E187E|CACNB2_uc001ipt.2_Silent_p.E187E|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Silent_p.E159E|CACNB2_uc001ipv.2_Silent_p.E159E|CACNB2_uc009xka.1_Silent_p.E159E|CACNB2_uc001ipw.2_Silent_p.E132E|CACNB2_uc001ipx.2_Silent_p.E132E|CACNB2_uc009xkb.1_Silent_p.E133E|CACNB2_uc010qcm.1_Silent_p.E133E|CACNB2_uc001ipz.2_Silent_p.E133E|CACNB2_uc001ipy.2_Silent_p.E133E|CACNB2_uc010qcn.1_Silent_p.E139E|CACNB2_uc010qco.1_Silent_p.E139E|CACNB2_uc001iqa.2_Silent_p.E139E	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	187					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGCAGCATGAACAGAGAGCCA	0.423													G	18789845	A	G	18789845	2	3	27	1	0	0	0	0	0	0	0	1	2553	40	2	3		3	CACNB2	10	18789845	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	898230	18789845	116744902	4736	28687											
CACNB2	783	broad.mit.edu	37	chr10	18825082	18825082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctcaagctaaacacctcaAcgtccagatggtagcagctg	8	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:18825082A>G	uc001ipr.2	+	12	1319	c.1259A>G	c.(1258-1260)AAC>AGC	p.N420S	CACNB2_uc009xjz.1_Missense_Mutation_p.N170S|CACNB2_uc001ips.2_Missense_Mutation_p.N396S|CACNB2_uc001ipt.2_Missense_Mutation_p.N382S|CACNB2_uc001ipu.2_Missense_Mutation_p.N392S|CACNB2_uc001ipv.2_Missense_Mutation_p.N368S|CACNB2_uc009xka.1_Missense_Mutation_p.N354S|CACNB2_uc001ipw.2_Missense_Mutation_p.N327S|CACNB2_uc001ipx.2_Missense_Mutation_p.N365S|CACNB2_uc001ipz.2_Missense_Mutation_p.N342S|CACNB2_uc001ipy.2_Missense_Mutation_p.N366S|CACNB2_uc010qco.1_Missense_Mutation_p.N334S|CACNB2_uc001iqa.2_Missense_Mutation_p.N372S|NSUN6_uc001iqb.2_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	420					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAACACCTCAACGTCCAGATG	0.358													G	18825082	A	G	18825082	3	3	27	1	0	0	0	0	1	0	0	0	2553	43	2	3	1615	3	CACNB2	10	18825082	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	35237	18825082	116709665	4737	28688											
CACNB2	783	broad.mit.edu	37	chr10	18827115	18827115	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcctctgcaggagctgTtcgatgtgatcttggatgag	14	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:18827115T>C	uc001ipr.2	+	13	1369	c.1309T>C	c.(1309-1311)TTC>CTC	p.F437L	CACNB2_uc009xjz.1_Missense_Mutation_p.F187L|CACNB2_uc001ips.2_Missense_Mutation_p.F413L|CACNB2_uc001ipt.2_Missense_Mutation_p.F399L|CACNB2_uc001ipu.2_Missense_Mutation_p.F409L|CACNB2_uc001ipv.2_Missense_Mutation_p.F385L|CACNB2_uc009xka.1_Missense_Mutation_p.F371L|CACNB2_uc001ipw.2_Missense_Mutation_p.F344L|CACNB2_uc001ipx.2_Missense_Mutation_p.F382L|CACNB2_uc001ipz.2_Missense_Mutation_p.F359L|CACNB2_uc001ipy.2_Missense_Mutation_p.F383L|CACNB2_uc010qco.1_Missense_Mutation_p.F351L|CACNB2_uc001iqa.2_Missense_Mutation_p.F389L|NSUN6_uc001iqb.2_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	437					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCAGGAGCTGTTCGATGTGAT	0.562													C	18827115	T	C	18827115	3	2	27	1	0	0	0	0	1	0	0	0	2553	1725	60	3	1669	3	CACNB2	10	18827115	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2033	18827115	116707632	4738	28689											
NSUN6	221078	broad.mit.edu	37	chr10	18834947	18834947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacatgtcttctcttctgGcctctctaagagagtccatg	8	12	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:18834947G>A	uc010qcp.1	-	11	1743	c.1325C>T	c.(1324-1326)GCC>GTC	p.A442V	NSUN6_uc001iqb.2_5'Flank	NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	NOL1/NOP2/Sun domain family, member 6	442							methyltransferase activity|RNA binding			ovary(2)	2						TTCTCTTCTGGCCTCTCTAAG	0.458													A	18834947	G	A	18834947	3	1	27	1	0	0	0	0	1	0	0	0	10682	1203	42	2	88	2	NSUN6	10	18834947	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	7832	18834947	116699800	4739	28690											
PLXDC2	84898	broad.mit.edu	37	chr10	20357165	20357165	+	Frame_Shift_Del	DEL	G	G	-													gtgaaatcactgtggcaaccGggggtaagtggttttctacc					rs143842350		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:20357164_20357164CG>C	uc001iqg.1	+	3	1174	c.537_537CG>C	c.(535-537)accfs	p.T179fs	PLXDC2_uc001iqh.1_Frame_Shift_Del_p.T130fs	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	179						integral to membrane		p.T179I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CTGTGGCAACCGGGGGTAAGT	0.358													-	20357165	G	-	20357165	7	5	27	1	0	1	0	1	0	0	0	0	12118	1116	39	0	552	0	PLXDC2	10	20357165	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	1522218	20357165	115177582	4740	28691											
NEBL	10529	broad.mit.edu	37	chr10	21134226	21134226	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgtactttacatgtaaaaaTtctggagtcttgtctaaatc	6	6	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:21134226T>A	uc001iqi.2	-	12	1585	c.1188A>T	c.(1186-1188)GAA>GAT	p.E396D	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	396	Nebulin 11.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						CATGTAAAAATTCTGGAGTCT	0.318													A	21134226	T	A	21134226	3	1	27	1	0	0	0	0	1	0	0	0	10303	1490	52	5	1924	5	NEBL	10	21134226	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	777061	21134226	114400521	4741	28692											
NEBL	10529	broad.mit.edu	37	chr10	21309122	21309122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggtgaaggactgcttcGggtagtgtctgtggggaaat	17	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:21309122G>A	uc001iqk.2	-	3	527	c.173C>T	c.(172-174)CCG>CTG	p.P58L		NM_213569	NP_998734	O76041	NEBL_HUMAN	nebulette non-muscle isoform	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						GGACTGCTTCGGGTAGTGTCT	0.413													A	21309122	G	A	21309122	3	1	27	1	0	0	0	0	1	0	0	0	10303	1116	39	1	3348	1	NEBL	10	21309122	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	174896	21309122	114225625	4742	28693											
DNAJC1	64215	broad.mit.edu	37	chr10	22208825	22208825	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgccagtctttttttTcttttctctcttttttctac	3	11	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:22208825T>C	uc001irc.2	-	5	858	c.571A>G	c.(571-573)AAA>GAA	p.K191E	DNAJC1_uc001ird.2_Missense_Mutation_p.K77E	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	191	Cytoplasmic (By similarity).				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			lung(1)	1		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GTCTTTTTTTTCTTTTCTCTC	0.318													C	22208825	T	C	22208825	3	2	27	1	0	0	0	0	1	0	0	0	4628	1792	62	3	1125	3	DNAJC1	10	22208825	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	899703	22208825	113325922	4743	28694											
SPAG6	9576	broad.mit.edu	37	chr10	22657522	22657522	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gattgtggagcactggatacGctggtcatatgcttggaaga	14	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:22657522G>C	uc001iri.2	+	4	529	c.387G>C	c.(385-387)ACG>ACC	p.T129T	SPAG6_uc001irj.2_Silent_p.T129T|SPAG6_uc010qct.1_Silent_p.T99T|SPAG6_uc009xkh.2_Silent_p.T107T	NM_012443	NP_036575	O75602	SPAG6_HUMAN	sperm associated antigen 6 isoform 1	129	ARM 3.				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1						CACTGGATACGCTGGTCATAT	0.458													C	22657522	G	C	22657522	2	2	27	1	0	0	0	0	0	0	0	1	14982	1074	38	5		5	SPAG6	10	22657522	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	448697	22657522	112877225	4744	28695											
SPAG6	9576	broad.mit.edu	37	chr10	22676751	22676751	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttttttttgcttcacaGcatcagatcctttcagctct	5	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:22676751G>A	uc001iri.2	+	6	821	c.679_splice	c.e6-1	p.H227_splice	SPAG6_uc001irj.2_Splice_Site_p.H227_splice|SPAG6_uc010qct.1_Splice_Site_p.H197_splice|SPAG6_uc009xkh.2_Splice_Site_p.H205_splice	NM_012443	NP_036575	O75602	SPAG6_HUMAN	sperm associated antigen 6 isoform 1						cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1						TTGCTTCACAGCATCAGATCC	0.353													A	22676751	G	A	22676751	5	1	27	1	0	0	0	0	0	0	1	0	14982	985	34	2	700	2	SPAG6	10	22676751	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	19229	22676751	112857996	4745	28696											
KIAA1217	56243	broad.mit.edu	37	chr10	24813641	24813641	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtctgccatgcagagcttgtTcattgaagaaatccacagtg	10	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:24813641T>A	uc001iru.3	+	13	3249	c.2846T>A	c.(2845-2847)TTC>TAC	p.F949Y	KIAA1217_uc001irs.2_Missense_Mutation_p.F869Y|KIAA1217_uc001irt.3_Missense_Mutation_p.F914Y|KIAA1217_uc010qcy.1_Missense_Mutation_p.F914Y|KIAA1217_uc010qcz.1_Missense_Mutation_p.F914Y|KIAA1217_uc001irv.1_Missense_Mutation_p.F764Y|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.2_Missense_Mutation_p.F632Y|KIAA1217_uc001irz.2_Missense_Mutation_p.F632Y|KIAA1217_uc001irx.2_Missense_Mutation_p.F632Y|KIAA1217_uc001iry.2_Missense_Mutation_p.F632Y	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	949					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						CAGAGCTTGTTCATTGAAGAA	0.522													A	24813641	T	A	24813641	3	1	27	1	0	0	0	0	1	0	0	0	8216	1783	62	5	2896	5	KIAA1217	10	24813641	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2136890	24813641	110721106	4746	28697											
ARHGAP21	57584	broad.mit.edu	37	chr10	24909193	24909193	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatgaatttcttgctgcctaGgtctttcacaaatacctcgt	6	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:24909193G>T	uc001isb.2	-	9	2118	c.1631C>A	c.(1630-1632)CCT>CAT	p.P544H	ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.P544H|ARHGAP21_uc010qdc.1_Missense_Mutation_p.P379H|ARHGAP21_uc001isc.1_Missense_Mutation_p.P534H	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	543					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						TTGCTGCCTAGGTCTTTCACA	0.413													T	24909193	G	T	24909193	3	4	27	1	0	0	0	0	1	0	0	0	871	1000	35	5	4317	5	ARHGAP21	10	24909193	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	95552	24909193	110625554	4747	28698											
PRTFDC1	56952	broad.mit.edu	37	chr10	25226286	25226286	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcataatatccttggccaGccgctcaattctgaaagaag	7	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:25226286G>A	uc001ise.1	-	3	195	c.166C>T	c.(166-168)CTG>TTG	p.L56L	PRTFDC1_uc010qdd.1_Silent_p.L56L|PRTFDC1_uc001isf.1_RNA|PRTFDC1_uc009xkm.1_RNA	NM_020200	NP_064585	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	56					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			ovary(1)	1						TCCTTGGCCAGCCGCTCAATT	0.368													A	25226286	G	A	25226286	2	1	27	1	0	0	0	0	0	0	0	1	12637	962	34	2		2	PRTFDC1	10	25226286	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	317093	25226286	110308461	4748	28699											
ANKRD26	22852	broad.mit.edu	37	chr10	27324093	27324093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttaggtccttttgtacccGttctaaacccaaagtctttt	6	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:27324093G>A	uc001ith.2	-	24	3455	c.3283C>T	c.(3283-3285)CGG>TGG	p.R1095W	ANKRD26_uc001itg.2_Missense_Mutation_p.R782W|ANKRD26_uc009xku.1_Missense_Mutation_p.R1096W	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1095	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						TTTTGTACCCGTTCTAAACCC	0.353													A	27324093	G	A	27324093	3	1	27	1	0	0	0	0	1	0	0	0	654	1144	40	1	1890	1	ANKRD26	10	27324093	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2097807	27324093	108210654	4749	28700											
ANKRD26	22852	broad.mit.edu	37	chr10	27337806	27337807	+	In_Frame_Ins	INS	-	-	CAT													tttcttttttgaattaatccINSatcatcatcatcatcatctt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:27337805_27337806C>CCAT	uc009xku.1	-	16	1910_1911	c.1738_1739G>ATGG	c.(1738-1740)gga>ATGGa	p.G580M	ANKRD26_uc001itg.2_In_Frame_Ins_p.G266M|ANKRD26_uc001ith.2_In_Frame_Ins_p.G580M	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	580						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTGAATTAATCcatcatcatca	0.347													CAT	27337807	-	CAT	27337806	7	5	27	1	0	1	1	0	0	0	0	0	654	603	21	0	3466	0	ANKRD26	10	27337806	In_Frame_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	13713	27337806	108196941	4750	28701											
MASTL	84930	broad.mit.edu	37	chr10	27459272	27459272	+	Frame_Shift_Del	DEL	A	A	-													gtaaaaaaattatacagaatAaaaaaacttgtgtagagtat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:27459271_27459271TA>T	uc001itm.3	+	7	1986	c.1383_1383TA>T	c.(1381-1383)aatfs	p.N461fs	MASTL_uc001itl.3_Frame_Shift_Del_p.N461fs|MASTL_uc009xkw.2_Frame_Shift_Del_p.N461fs|MASTL_uc009xkx.2_Non-coding_Transcript	NM_001172303	NP_001165774	Q96GX5	GWL_HUMAN	Homo sapiens microtubule associated serine/threonine kinase-like (MASTL), transcript variant 1, mRNA.	461	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTATACAGAATAAAAAAACTT	0.333													-	27459272	A	-	27459272	7	5	27	1	0	1	0	1	0	0	0	0	9328	363	13	0	1414	0	MASTL	10	27459272	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	121466	27459272	108075475	4751	28702											
ACBD5	91452	broad.mit.edu	37	chr10	27512277	27512277	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atagtccaacctgaggttatAtcagaactcctgccactctt	6	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:27512277A>T	uc010qdp.1	-	5	671	c.480T>A	c.(478-480)GAT>GAA	p.D160E	ACBD5_uc010qdm.1_Missense_Mutation_p.D158E|ACBD5_uc010qdn.1_Missense_Mutation_p.D51E|ACBD5_uc010qdo.1_Missense_Mutation_p.D51E|ACBD5_uc001ito.2_Missense_Mutation_p.D125E|ACBD5_uc001itp.2_Missense_Mutation_p.D51E|ACBD5_uc001itq.2_Missense_Mutation_p.D51E|ACBD5_uc001itr.1_5'UTR	NM_145698	NP_663736	Q5T8D3	ACBD5_HUMAN	acyl-Coenzyme A binding domain containing 5	158					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding				0						CTGAGGTTATATCAGAACTCC	0.318													T	27512277	A	T	27512277	3	4	27	1	0	0	0	0	1	0	0	0	125	446	16	5	1133	5	ACBD5	10	27512277	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	53005	27512277	108022470	4752	28703											
PTCHD3	374308	broad.mit.edu	37	chr10	27687763	27687763	+	Frame_Shift_Del	DEL	A	A	-													aaggggccaaaatagtctctAaaaaacaaacttattggatg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:27687762_27687762TA>T	uc001itu.2	-	3	1883	c.1765_1765TA>A	c.(1765-1767)agafs	p.R589fs		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	589					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AAATAGTCTCTAAAAAACAAA	0.368													-	27687763	A	-	27687763	7	5	27	1	0	1	0	1	0	0	0	0	12734	359	13	0	543	0	PTCHD3	10	27687763	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	175486	27687763	107846984	4753	28704											
PTCHD3	374308	broad.mit.edu	37	chr10	27688067	27688067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgattgtaatagacactGccgcttttgaatagacattg	10	6	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:27688067G>A	uc001itu.2	-	4	1578	c.1460C>T	c.(1459-1461)GCA>GTA	p.A487V		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	487	SSD.|Helical; (Potential).				spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						AATAGACACTGCCGCTTTTGA	0.423													A	27688067	G	A	27688067	3	1	27	1	0	0	0	0	1	0	0	0	12734	1319	46	2	847	2	PTCHD3	10	27688067	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	304	27688067	107846680	4754	28705											
PTCHD3	374308	broad.mit.edu	37	chr10	27702951	27702952	+	Frame_Shift_Ins	INS	-	-	G													tcgtccagcatcgacggccgINSggggggtgcatcgtccccct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:27702950_27702951C>CG	uc001itu.2	-	0	347_348	c.229_230G>CG	c.(229-231)cggfs	p.R77fs		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	77					spermatid development	integral to membrane	hedgehog receptor activity	p.P76S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CATCGACGGCCGGGGGGGTGCA	0.718													G	27702952	-	G	27702951	7	5	27	1	0	1	1	0	0	0	0	0	12734	1115	39	0	2090	0	PTCHD3	10	27702951	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	14884	27702951	107831796	4755	28706											
MPP7	143098	broad.mit.edu	37	chr10	28378687	28378687	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtacgtcagctgtgtcgtActgatcactcttcttgcatt	10	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:28378687A>G	uc001iua.1	-	14	1440	c.1036T>C	c.(1036-1038)TAC>CAC	p.Y346H	MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.Y346H|MPP7_uc009xla.2_Missense_Mutation_p.Y346H|MPP7_uc010qdv.1_RNA	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	palmitoylated membrane protein 7	346					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			ovary(1)	1						GCTGTGTCGTACTGATCACTC	0.363													G	28378687	A	G	28378687	3	3	27	1	0	0	0	0	1	0	0	0	9739	391	14	3	718	3	MPP7	10	28378687	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	675736	28378687	107156060	4756	28707											
WAC	51322	broad.mit.edu	37	chr10	28878772	28878772	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaaaaccaaaagagtgGcttgaaaggtaattagcttt	11	4	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:28878772G>A	uc001iuf.2	+	5	574	c.489G>A	c.(487-489)TGG>TGA	p.W163*	WAC_uc001iud.2_Nonsense_Mutation_p.W118*|WAC_uc001iue.2_Intron|WAC_uc009xlb.2_Nonsense_Mutation_p.W118*|WAC_uc001iug.2_Nonsense_Mutation_p.W163*|WAC_uc001iuh.2_Nonsense_Mutation_p.W118*	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	163					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2						CAAAAGAGTGGCTTGAAAGGT	0.333													A	28878772	G	A	28878772	4	1	27	1	0	0	0	0	0	1	0	0	17244	1212	42	2	507	2	WAC	10	28878772	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	500085	28878772	106655975	4757	28708											
WAC	51322	broad.mit.edu	37	chr10	28903500	28903500	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gattttgacatttcaggttaGtactccagtagttaagcaag	9	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:28903500G>C	uc001iuf.2	+	11	1527	c.1442G>C	c.(1441-1443)AGT>ACT	p.S481T	WAC_uc001iud.2_Missense_Mutation_p.S436T|WAC_uc001iue.2_Missense_Mutation_p.S171T|WAC_uc001iug.2_Missense_Mutation_p.S378T|WAC_uc001iuh.2_Missense_Mutation_p.S433T	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	481					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2						TTTCAGGTTAGTACTCCAGTA	0.458													C	28903500	G	C	28903500	3	2	27	1	0	0	0	0	1	0	0	0	17244	1029	36	5	1484	5	WAC	10	28903500	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	24728	28903500	106631247	4758	28709											
WAC	51322	broad.mit.edu	37	chr10	28903522	28903522	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actccagtagttaagcaaggAccagtgtcacagtcagccac	9	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:28903522A>G	uc001iuf.2	+	11	1549	c.1464A>G	c.(1462-1464)GGA>GGG	p.G488G	WAC_uc001iud.2_Silent_p.G443G|WAC_uc001iue.2_Silent_p.G178G|WAC_uc001iug.2_Silent_p.G385G|WAC_uc001iuh.2_Silent_p.G440G	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	488					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2						TTAAGCAAGGACCAGTGTCAC	0.478													G	28903522	A	G	28903522	2	3	27	1	0	0	0	0	0	0	0	1	17244	262	10	3		3	WAC	10	28903522	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	22	28903522	106631225	4759	28710											
BAMBI	25805	broad.mit.edu	37	chr10	28970330	28970330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggctgcctggactctcttGcaagcacgacagacatctgc	10	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:28970330G>A	uc001iuj.1	+	2	623	c.220G>A	c.(220-222)GCA>ACA	p.A74T	BAMBI_uc001iui.2_Missense_Mutation_p.A74T	NM_012342	NP_036474	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	74	Extracellular (Potential).				cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(4)	4						GGACTCTCTTGCAAGCACGAC	0.498													A	28970330	G	A	28970330	3	1	27	1	0	0	0	0	1	0	0	0	1306	1319	46	2	226	2	BAMBI	10	28970330	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	66808	28970330	106564417	4760	28711											
SVIL	6840	broad.mit.edu	37	chr10	29759284	29759284	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatccgtgccacaggtagaTgagggccttgttgacgttaa	13	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:29759284T>C	uc001iut.1	-	32	6517	c.5764A>G	c.(5764-5766)ATC>GTC	p.I1922V	LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.I836V|SVIL_uc001iuu.1_Missense_Mutation_p.I1496V	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1922	Gelsolin-like 4.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				CACAGGTAGATGAGGGCCTTG	0.572													C	29759284	T	C	29759284	3	2	27	1	0	0	0	0	1	0	0	0	15418	1464	51	3	908	3	SVIL	10	29759284	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	788954	29759284	105775463	4761	28712											
SVIL	6840	broad.mit.edu	37	chr10	29788121	29788121	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctctcgtcttccaggcCtcctctctcacagtgatgag	8	16	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:29788121C>A	uc001iut.1	-	18	4341	c.3588G>T	c.(3586-3588)GAG>GAT	p.E1196D	SVIL_uc010qdw.1_Missense_Mutation_p.E110D|SVIL_uc001iuu.1_Missense_Mutation_p.E770D|SVIL_uc009xlc.2_5'Flank	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1196					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TCTTCCAGGCCTCCTCTCTCA	0.522													A	29788121	C	A	29788121	3	1	27	1	0	0	0	0	1	0	0	0	15418	680	24	5	3140	5	SVIL	10	29788121	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	28837	29788121	105746626	4762	28713											
SVIL	6840	broad.mit.edu	37	chr10	29811383	29811383	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtgagtcaagaaggccCtcccctgtcggcgttttgat	13	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:29811383C>A	uc001iut.1	-	16	4098	c.3345G>T	c.(3343-3345)GAG>GAT	p.E1115D	SVIL_uc010qdw.1_Missense_Mutation_p.E13D|SVIL_uc001iuu.1_Missense_Mutation_p.E689D	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1115					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				CAAGAAGGCCCTCCCCTGTCG	0.507													A	29811383	C	A	29811383	3	1	27	1	0	0	0	0	1	0	0	0	15418	680	24	5	3391	5	SVIL	10	29811383	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	23262	29811383	105723364	4763	28714											
SVIL	6840	broad.mit.edu	37	chr10	29821634	29821634	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaggcctggagctgaggGgggcctgtgaaatctgacag	16	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:29821634G>T	uc001iut.1	-	8	2415	c.1662C>A	c.(1660-1662)CCC>CCA	p.P554P	SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Silent_p.P554P	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	554					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				GGAGCTGAGGGGGGCCTGTGA	0.582													T	29821634	G	T	29821634	2	4	27	1	0	0	0	0	0	0	0	1	15418	1219	43	5		5	SVIL	10	29821634	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	10251	29821634	105713113	4764	28715											
KIAA1462	57608	broad.mit.edu	37	chr10	30316580	30316580	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttaaaactttctaactgacTgatcaaatcccagggacgac	7	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:30316580T>C	uc001iux.2	-	2	2556	c.2497A>G	c.(2497-2499)AGT>GGT	p.S833G	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.S695G|KIAA1462_uc009xle.1_Missense_Mutation_p.S833G	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	833										ovary(4)	4						TCTAACTGACTGATCAAATCC	0.448													C	30316580	T	C	30316580	3	2	27	1	0	0	0	0	1	0	0	0	8234	1580	55	3	1590	3	KIAA1462	10	30316580	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	494946	30316580	105218167	4765	28716											
MAP3K8	1326	broad.mit.edu	37	chr10	30749657	30749657	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcgtgcacaggaagcacCgaggaatctgagatgctcaa	11	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:30749657C>T	uc001ivi.1	+	9	1992	c.1296C>T	c.(1294-1296)ACC>ACT	p.T432T	MAP3K8_uc009xlf.1_Silent_p.T432T|MAP3K8_uc001ivj.1_Silent_p.T432T	NM_005204	NP_005195	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase	432			Missing (in oncogenic form).		cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(3)|central_nervous_system(1)	4		Prostate(175;0.151)				CAGGAAGCACCGAGGAATCTG	0.453													T	30749657	C	T	30749657	2	4	27	1	0	0	0	0	0	0	0	1	9256	639	23	1		1	MAP3K8	10	30749657	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	433077	30749657	104785090	4766	28717											
ZNF438	220929	broad.mit.edu	37	chr10	31134156	31134156	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggggtccttcattttccaTgagcatttccacgccattct	7	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:31134156T>C	uc010qdz.1	-	8	2656	c.2221A>G	c.(2221-2223)ATG>GTG	p.M741V	ZNF438_uc001ivn.2_Missense_Mutation_p.M692V|ZNF438_uc010qdy.1_Missense_Mutation_p.M731V|ZNF438_uc001ivo.3_Missense_Mutation_p.M305V|ZNF438_uc009xlg.2_Missense_Mutation_p.M741V|ZNF438_uc001ivp.3_Missense_Mutation_p.M731V|ZNF438_uc010qea.1_Missense_Mutation_p.M741V|ZNF438_uc010qeb.1_Missense_Mutation_p.M741V	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	741					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				TCATTTTCCATGAGCATTTCC	0.537													C	31134156	T	C	31134156	3	2	27	1	0	0	0	0	1	0	0	0	17907	1464	51	3	269	3	ZNF438	10	31134156	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	384499	31134156	104400591	4767	28718											
ZEB1	6935	broad.mit.edu	37	chr10	31809776	31809776	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgctacaaacagttgtaaaAgtgaaaagttaccagaagat	8	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:31809776A>G	uc001ivs.3	+	7	1576	c.1513A>G	c.(1513-1515)AGT>GGT	p.S505G	ZEB1_uc001ivr.3_Missense_Mutation_p.S287G|ZEB1_uc010qee.1_Missense_Mutation_p.S287G|ZEB1_uc010qef.1_Missense_Mutation_p.S287G|ZEB1_uc009xlj.1_Missense_Mutation_p.S431G|ZEB1_uc010qeg.1_Missense_Mutation_p.S364G|ZEB1_uc009xlk.1_Missense_Mutation_p.S287G|ZEB1_uc001ivt.3_Missense_Mutation_p.S287G|ZEB1_uc001ivu.3_Missense_Mutation_p.S506G|ZEB1_uc001ivv.3_Missense_Mutation_p.S485G|ZEB1_uc010qeh.1_Missense_Mutation_p.S438G|ZEB1_uc009xlo.1_Missense_Mutation_p.S488G|ZEB1_uc009xlp.2_Missense_Mutation_p.S489G	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	505					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				CAGTTGTAAAAGTGAAAAGTT	0.378													G	31809776	A	G	31809776	3	3	27	1	0	0	0	0	1	0	0	0	17620	72	3	3	1553	3	ZEB1	10	31809776	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	675620	31809776	103724971	4768	28719											
EPC1	80314	broad.mit.edu	37	chr10	32560682	32560682	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaatcagaacctgagtTgttgcagaattggcagcagt	10	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:32560682T>C	uc001iwg.1	-	14	2508	c.2238A>G	c.(2236-2238)ACA>ACG	p.T746T	EPC1_uc001iwi.3_Silent_p.T673T|EPC1_uc001iwh.1_Silent_p.T723T	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	enhancer of polycomb 1	746					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				ovary(3)|central_nervous_system(1)	4		Prostate(175;0.0199)				GAACCTGAGTTGTTGCAGAAT	0.428													C	32560682	T	C	32560682	2	2	27	1	0	0	0	0	0	0	0	1	5160	1799	63	3		3	EPC1	10	32560682	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	750906	32560682	102974065	4769	28720											
ITGB1	3688	broad.mit.edu	37	chr10	33208821	33208821	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccagcttacctgcacgcGccacactcaaatgtcccatt	5	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:33208821G>A	uc001iws.3	-	11	1597	c.1461C>T	c.(1459-1461)GGC>GGT	p.G487G	ITGB1_uc001iwp.3_Silent_p.G487G|ITGB1_uc001iwq.3_Silent_p.G487G|ITGB1_uc001iwr.3_Silent_p.G487G|ITGB1_uc001iwt.3_Silent_p.G487G|ITGB1_uc001iwu.1_Silent_p.G487G	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	487	Extracellular (Potential).|I.|Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				ACCTGCACGCGCCACACTCAA	0.453													A	33208821	G	A	33208821	2	1	27	1	0	0	0	0	0	0	0	1	7890	1074	38	1		1	ITGB1	10	33208821	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	648139	33208821	102325926	4770	28721											
NRP1	8829	broad.mit.edu	37	chr10	33491884	33491884	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgtcatcacattcatccAccaagttcccgttgggagtg	10	12	3	0	rs143549013		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:33491884A>G	uc001iwx.3	-	11	2322	c.1799T>C	c.(1798-1800)GTG>GCG	p.V600A	NRP1_uc001iwv.3_Missense_Mutation_p.V600A|NRP1_uc009xlz.2_Missense_Mutation_p.V600A|NRP1_uc001iww.3_Missense_Mutation_p.V419A|NRP1_uc001iwy.3_Missense_Mutation_p.V600A|NRP1_uc001iwz.2_Missense_Mutation_p.V600A|NRP1_uc001ixa.2_Intron|NRP1_uc001ixb.1_Missense_Mutation_p.V600A	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	600	Extracellular (Potential).				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	ACATTCATCCACCAAGTTCCC	0.502													G	33491884	A	G	33491884	3	3	27	1	0	0	0	0	1	0	0	0	10660	159	6	3	1011	3	NRP1	10	33491884	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	283063	33491884	102042863	4771	28722											
PARD3	56288	broad.mit.edu	37	chr10	34671688	34671688	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagccctgcactgttcacActcctgttgtcaatatactg	7	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:34671688A>G	uc010qej.1	-	9	1179	c.1179T>C	c.(1177-1179)AGT>AGC	p.S393S	PARD3_uc010qek.1_Silent_p.S393S|PARD3_uc010qel.1_Silent_p.S393S|PARD3_uc010qem.1_Silent_p.S393S|PARD3_uc010qen.1_Silent_p.S393S|PARD3_uc010qeo.1_Silent_p.S393S|PARD3_uc010qep.1_Silent_p.S349S|PARD3_uc010qeq.1_Silent_p.S349S|PARD3_uc001ixo.1_Silent_p.S123S|PARD3_uc001ixp.1_Silent_p.S258S|PARD3_uc001ixq.1_Silent_p.S393S|PARD3_uc001ixr.1_Silent_p.S393S|PARD3_uc001ixt.1_Silent_p.S214S|PARD3_uc001ixu.1_Silent_p.S349S|PARD3_uc001ixs.1_Silent_p.S46S	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	393					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)				CACTGTTCACACTCCTGTTGT	0.488													G	34671688	A	G	34671688	2	3	27	1	0	0	0	0	0	0	0	1	11443	156	6	3		3	PARD3	10	34671688	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1179804	34671688	100863059	4772	28723											
CUL2	8453	broad.mit.edu	37	chr10	35360229	35360229	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttcatcaaaatctactactCttggtttcaaagacattgtg	5	8	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:35360229C>T	uc001ixv.2	-	2	227	c.17G>A	c.(16-18)AGA>AAA	p.R6K	CUL2_uc009xma.2_5'UTR|CUL2_uc010qer.1_Missense_Mutation_p.R25K|CUL2_uc001ixw.2_Missense_Mutation_p.R6K|CUL2_uc010qes.1_Missense_Mutation_p.R6K	NM_003591	NP_003582	Q13617	CUL2_HUMAN	cullin 2	6					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			ovary(3)	3						ATCTACTACTCTTGGTTTCAA	0.333													T	35360229	C	T	35360229	3	4	27	1	0	0	0	0	1	0	0	0	4055	913	32	4	2300	4	CUL2	10	35360229	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	688541	35360229	100174518	4773	28724											
GJD4	219770	broad.mit.edu	37	chr10	35896548	35896548	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgctgcggatgctggTgattgtcttggcggggcgac	18	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:35896548T>C	uc001iyy.1	+	2	265	c.107T>C	c.(106-108)GTG>GCG	p.V36A		NM_153368	NP_699199	Q96KN9	CXD4_HUMAN	connexin40.1	36	Helical; (Potential).				cell communication	connexon complex|integral to membrane				large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						CGGATGCTGGTGATTGTCTTG	0.587													C	35896548	T	C	35896548	3	2	27	1	0	0	0	0	1	0	0	0	6419	1696	59	3	113	3	GJD4	10	35896548	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	536319	35896548	99638199	4774	28725											
FZD8	8325	broad.mit.edu	37	chr10	35929473	35929473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgataaggaaggtggagacGgtggcgaaggtggacacgaa	18	5	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:35929473G>A	uc001iyz.1	-	1	890	c.885C>T	c.(883-885)ACC>ACT	p.T295T		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	295	Helical; Name=1; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0						AGGTGGAGACGGTGGCGAAGG	0.607													A	35929473	G	A	35929473	2	1	27	1	0	0	0	0	0	0	0	1	6136	1103	39	1		1	FZD8	10	35929473	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	32925	35929473	99605274	4775	28726											
ZNF248	57209	broad.mit.edu	37	chr10	38127040	38127040	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccttgaatgacacttgttcCtgtaatagtatactcttttt	5	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:38127040C>A	uc001izd.1	-	4	515	c.16_splice	c.e4-1	p.E6_splice	ZNF248_uc009xmc.2_Splice_Site_p.E6_splice|ZNF248_uc001izb.2_Splice_Site|ZNF248_uc001izc.2_Splice_Site_p.E6_splice|ZNF248_uc010qeu.1_Splice_Site_p.E6_splice	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ACACTTGTTCCTGTAATAGTA	0.373													A	38127040	C	A	38127040	5	1	27	1	0	0	0	0	0	0	1	0	17790	695	24	5	1736	5	ZNF248	10	38127040	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2197567	38127040	97407707	4776	28727											
ZNF25	219749	broad.mit.edu	37	chr10	38241129	38241129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgacttctggataaaggtttCcccacactcctgacactcat	6	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:38241129C>T	uc001ize.1	-	6	1402	c.1297G>A	c.(1297-1299)GAA>AAA	p.E433K	ZNF25_uc001izf.1_Missense_Mutation_p.E397K	NM_145011	NP_659448	P17030	ZNF25_HUMAN	zinc finger protein 25	433	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|central_nervous_system(1)	4		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				ATAAAGGTTTCCCCACACTCC	0.428													T	38241129	C	T	38241129	3	4	27	1	0	0	0	0	1	0	0	0	17791	864	30	4	77	4	ZNF25	10	38241129	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	114089	38241129	97293618	4777	28728											
ZNF33B	7582	broad.mit.edu	37	chr10	43089023	43089023	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgtgtgagttctctggtGtactgtaaggtgtgaattca	12	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:43089023G>T	uc001jaf.1	-	5	1490	c.1375C>A	c.(1375-1377)CAC>AAC	p.H459N	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.H347N|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	459	C2H2-type 5.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GTTCTCTGGTGTACTGTAAGG	0.403													T	43089023	G	T	43089023	3	4	27	1	0	0	0	0	1	0	0	0	17852	1377	48	5	965	5	ZNF33B	10	43089023	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4847894	43089023	92445724	4778	28729											
ZNF33B	7582	broad.mit.edu	37	chr10	43089341	43089341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattgaaagtgtttctctcCtgtgtgcaccctctgatgtc	8	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:43089341C>T	uc001jaf.1	-	5	1172	c.1057G>A	c.(1057-1059)GGA>AGA	p.G353R	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.G241R|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	353						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TGTTTCTCTCCTGTGTGCACC	0.413													T	43089341	C	T	43089341	3	4	27	1	0	0	0	0	1	0	0	0	17852	690	24	4	1283	4	ZNF33B	10	43089341	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	318	43089341	92445406	4779	28730											
BMS1	9790	broad.mit.edu	37	chr10	43325851	43325851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggagaccggccgtcatacGcgagcctcatgaaagaaagg	14	11	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:43325851G>A	uc001jaj.2	+	22	3957	c.3599G>A	c.(3598-3600)CGC>CAC	p.R1200H		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	1200					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.R1200G(1)		ovary(2)|upper_aerodigestive_tract(1)	3						GCCGTCATACGCGAGCCTCAT	0.517													A	43325851	G	A	43325851	3	1	27	1	0	0	0	0	1	0	0	0	1472	1087	38	1	3681	1	BMS1	10	43325851	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	236510	43325851	92208896	4780	28731											
ZNF32	7580	broad.mit.edu	37	chr10	44139744	44139744	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggcttttccacactgAtcacatctatagggcttctc	7	12	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:44139744A>T	uc001jbb.2	-	3	765	c.576T>A	c.(574-576)GAT>GAA	p.D192E	uc001jba.2_Intron|ZNF32_uc001jbc.2_Missense_Mutation_p.D192E	NM_001005368	NP_001005368	P17041	ZNF32_HUMAN	zinc finger protein 32	192	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TTCCACACTGATCACATCTAT	0.473													T	44139744	A	T	44139744	3	4	27	1	0	0	0	0	1	0	0	0	17835	330	12	5	249	5	ZNF32	10	44139744	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	813893	44139744	91395003	4781	28732											
ZNF32	7580	broad.mit.edu	37	chr10	44139814	44139814	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggttactctgattcctgaagCttctctgacaaatagcacac	7	11	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:44139814C>G	uc001jbb.2	-	3	695	c.506G>C	c.(505-507)AGC>ACC	p.S169T	uc001jba.2_Intron|ZNF32_uc001jbc.2_Missense_Mutation_p.S169T	NM_001005368	NP_001005368	P17041	ZNF32_HUMAN	zinc finger protein 32	169	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		ATTCCTGAAGCTTCTCTGACA	0.483													G	44139814	C	G	44139814	3	3	27	1	0	0	0	0	1	0	0	0	17835	797	28	5	319	5	ZNF32	10	44139814	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	70	44139814	91394933	4782	28733											
RASSF4	83937	broad.mit.edu	37	chr10	45480371	45480371	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccccggtgaggcccagcgcAtccggcgacaccggttctct	12	18	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:45480371A>G	uc001jbo.2	+	6	618	c.484A>G	c.(484-486)ATC>GTC	p.I162V	RASSF4_uc001jbp.2_Missense_Mutation_p.I193V|RASSF4_uc009xmn.2_Missense_Mutation_p.I92V|RASSF4_uc001jbq.2_Missense_Mutation_p.I59V|RASSF4_uc001jbt.2_Missense_Mutation_p.I119V	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN	Ras association domain family 4	162					cell cycle|signal transduction		protein binding			large_intestine(1)	1						GGCCCAGCGCATCCGGCGACA	0.672													G	45480371	A	G	45480371	3	3	27	1	0	0	0	0	1	0	0	0	13088	217	8	3	502	3	RASSF4	10	45480371	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1340557	45480371	90054376	4783	28734											
RASSF4	83937	broad.mit.edu	37	chr10	45480399	45480399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccggttctctatcaacgGccacttctacaatcataagg	6	13	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:45480399G>A	uc001jbo.2	+	6	646	c.512G>A	c.(511-513)GGC>GAC	p.G171D	RASSF4_uc001jbp.2_Missense_Mutation_p.G202D|RASSF4_uc009xmn.2_Missense_Mutation_p.G101D|RASSF4_uc001jbq.2_Missense_Mutation_p.G68D|RASSF4_uc001jbt.2_Missense_Mutation_p.G128D	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN	Ras association domain family 4	171					cell cycle|signal transduction		protein binding			large_intestine(1)	1						TCTATCAACGGCCACTTCTAC	0.652													A	45480399	G	A	45480399	3	1	27	1	0	0	0	0	1	0	0	0	13088	1203	42	2	530	2	RASSF4	10	45480399	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	28	45480399	90054348	4784	28735											
ALOX5	240	broad.mit.edu	37	chr10	45941070	45941072	+	In_Frame_Del	DEL	AAG	AAG	-													gcgtgattgctgagcgcaacAagaagaagcagctgccatat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:45941069_45941071CAAG>C	uc001jce.3	+	13	2058_2060	c.1959_1961CAAG>C	c.(1957-1962)aacaag>aaCg	p.K656del	ALOX5_uc009xmt.3_In_Frame_Del_p.K624del|ALOX5_uc010qfg.2_In_Frame_Del_p.K599del|ALOX5_uc021ppr.1_3'UTR	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	656	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CTGAGCGCAACAAGAAGAAGCAG	0.542													-	45941072	AAG	-	45941070	7	5	27	1	0	1	0	1	0	0	0	0	540	131	5	0	2014	0	ALOX5	10	45941070	In_Frame_Del	DEL	AAG	TCGA-BR-6452-01A-12D-1800-08	460671	45941070	89593677	4785	28736											
ANUBL1	93550	broad.mit.edu	37	chr10	46121968	46121968	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgctgctctggagctttcaAccctttgtcagcattagtga	9	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:46121968A>T	uc001jcp.3	-	7	1545	c.1303T>A	c.(1303-1305)TTG>ATG	p.L435M	ANUBL1_uc001jcl.3_Translation_Start_Site|ANUBL1_uc001jcm.3_Missense_Mutation_p.L435M|ANUBL1_uc009xmu.2_Missense_Mutation_p.L361M|ANUBL1_uc001jcn.3_Missense_Mutation_p.L361M|ANUBL1_uc001jco.3_Intron	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN	AN1, ubiquitin-like, homolog	435							zinc ion binding				0						GGAGCTTTCAACCCTTTGTCA	0.468													T	46121968	A	T	46121968	3	4	27	1	0	0	0	0	1	0	0	0	713	40	2	5	896	5	ANUBL1	10	46121968	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	180898	46121968	89412779	4786	28737											
PPYR1	5540	broad.mit.edu	37	chr10	47087814	47087814	+	Frame_Shift_Del	DEL	C	C	-													gctgacttgccagcagagcgCccccctggaggagtcggagc					rs137962741		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:47087813_47087813GC>G	uc001jee.3	+	2	1449	c.1030_1030GC>G	c.(1030-1032)gccfs	p.A344fs	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Frame_Shift_Del_p.A344fs|PPYR1_uc021ppu.1_Frame_Shift_Del_p.A344fs	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	344					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCAGCAGAGCGCCCCCCTGGA	0.562													-	47087814	C	-	47087814	7	5	27	1	0	1	0	1	0	0	0	0	12416	739	26	0	1033	0	PPYR1	10	47087814	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	965846	47087814	88446933	4787	28738											
RBP3	5949	broad.mit.edu	37	chr10	48389189	48389189	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgatctcacctaccagTgtggcccagcccagcgactg	12	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:48389189T>C	uc001jez.2	-	1	1803	c.1689A>G	c.(1687-1689)ACA>ACG	p.T563T		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	563	4 X approximate tandem repeats.|2.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	CACCTACCAGTGTGGCCCAGC	0.677													C	48389189	T	C	48389189	2	2	27	1	0	0	0	0	0	0	0	1	13157	1683	59	3		3	RBP3	10	48389189	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1301375	48389189	87145558	4788	28739											
RBP3	5949	broad.mit.edu	37	chr10	48390762	48390762	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggttctccgggaagcagTagttatccaagaggaccttg	13	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:48390762T>C	uc001jez.2	-	1	230	c.116A>G	c.(115-117)TAC>TGC	p.Y39C		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	39	4 X approximate tandem repeats.|1.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	CGGGAAGCAGTAGTTATCCAA	0.597													C	48390762	T	C	48390762	3	2	27	1	0	0	0	0	1	0	0	0	13157	1638	57	3	3643	3	RBP3	10	48390762	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1573	48390762	87143985	4789	28740											
GDF2	2658	broad.mit.edu	37	chr10	48413794	48413794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaggggaagaagcagccGcccttacactcgtaggcttc	12	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:48413794G>A	uc001jfa.1	-	2	1237	c.1074C>T	c.(1072-1074)GGC>GGT	p.G358G		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	358					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3						AGAAGCAGCCGCCCTTACACT	0.572													A	48413794	G	A	48413794	2	1	27	1	0	0	0	0	0	0	0	1	6314	1074	38	1		1	GDF2	10	48413794	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	23032	48413794	87120953	4790	28741											
AGAP8	728404	broad.mit.edu	37	chr10	48902297	48902297	+	Frame_Shift_Del	DEL	G	G	-													tttttattggcatgaggggaGgggggtgggttgagcttggg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:48902296_48902296AG>A	uc009xnv.2	-	2	683	c.577_577CT>T	c.(577-579)tccfs	p.S193fs		NM_001077686	NP_001071154	Q5SRD3	AGAP8_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 (AGAP8), mRNA.	371					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						GCATGAGGGGAGGGGGGTGGG	0.522													-	48902297	G	-	48902297	7	5	27	1	0	1	0	1	0	0	0	0	374	1015	35	0		0	AGAP8	10	48902297	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	488503	48902297	86632450	4791	28742											
FRMPD2	143162	broad.mit.edu	37	chr10	49420096	49420096	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtagagcggtcatcctctcGatcagactcgctgggatgta	12	11	3	2	rs116034209	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:49420096G>A	uc001jgi.2	-	13	1619	c.1512C>T	c.(1510-1512)ATC>ATT	p.I504I	FRMPD2_uc001jgh.2_Silent_p.I472I|FRMPD2_uc001jgj.2_Silent_p.I482I	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	504	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		TCATCCTCTCGATCAGACTCG	0.532													A	49420096	G	A	49420096	2	1	27	1	0	0	0	0	0	0	0	1	6058	1048	37	1		1	FRMPD2	10	49420096	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	517799	49420096	86114651	4792	28743											
FRMPD2	143162	broad.mit.edu	37	chr10	49448436	49448436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacactccggggcctgtgCcgctgggctctcgctgcttg	14	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:49448436C>T	uc001jgi.2	-	6	774	c.667G>A	c.(667-669)GCA>ACA	p.A223T	FRMPD2_uc001jgh.2_Missense_Mutation_p.A192T|FRMPD2_uc001jgj.2_Missense_Mutation_p.A201T	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	223					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		GGGGCCTGTGCCGCTGGGCTC	0.582													T	49448436	C	T	49448436	3	4	27	1	0	0	0	0	1	0	0	0	6058	739	26	2	3358	2	FRMPD2	10	49448436	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	28340	49448436	86086311	4793	28744											
ARHGAP22	58504	broad.mit.edu	37	chr10	49654565	49654565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccgttcagagttccgcaGctttatttccagcatgatgt	9	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:49654565G>A	uc001jgt.2	-	10	2263	c.1966C>T	c.(1966-1968)CTG>TTG	p.L656L	ARHGAP22_uc001jgs.2_Silent_p.L566L|ARHGAP22_uc001jgu.2_Silent_p.L672L|ARHGAP22_uc010qgl.1_Silent_p.L613L|ARHGAP22_uc010qgm.1_Silent_p.L662L|ARHGAP22_uc001jgv.2_Silent_p.L354L|ARHGAP22_uc001jgr.2_Silent_p.L373L	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 2	656	Potential.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			ovary(1)	1						GAGTTCCGCAGCTTTATTTCC	0.493													A	49654565	G	A	49654565	2	1	27	1	0	0	0	0	0	0	0	1	872	962	34	2		2	ARHGAP22	10	49654565	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	206129	49654565	85880182	4794	28745											
C10orf72	196740	broad.mit.edu	37	chr10	50227737	50227737	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatctgggcgtagacagtGctggtgggggcgcctttggc	19	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:50227737G>A	uc001jhf.2	-	8	950	c.921C>T	c.(919-921)AGC>AGT	p.S307S		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	hypothetical protein LOC196740 isoform 1	307	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0						CGTAGACAGTGCTGGTGGGGG	0.498													A	50227737	G	A	50227737	2	1	27	1	0	0	0	0	0	0	0	1	1615	1310	46	2		2	C10orf72	10	50227737	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	573172	50227737	85307010	4795	28746											
ERCC6	2074	broad.mit.edu	37	chr10	50736484	50736484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatcctcctccagactggCgtgatctagttcaattttca	7	12	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:50736484C>T	uc001jhs.3	-	4	785	c.631G>A	c.(631-633)GCC>ACC	p.A211T	PGBD3_uc009xoe.2_Missense_Mutation_p.A211T|PGBD3_uc001jhu.2_Missense_Mutation_p.A211T	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	211					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						TCCAGACTGGCGTGATCTAGT	0.463								Direct_reversal_of_damage|NER					T	50736484	C	T	50736484	3	4	27	1	0	0	0	0	1	0	0	0	5217	768	27	1	3922	1	ERCC6	10	50736484	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	508747	50736484	84798263	4796	28747											
SLC18A3	6572	broad.mit.edu	37	chr10	50819081	50819081	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctacacggccaacacctcgGcgtccccgacagctgcgtgg	11	18	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:50819081G>C	uc001jhw.2	+	1	735	c.295G>C	c.(295-297)GCG>CCG	p.A99P	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	99	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						CAACACCTCGGCGTCCCCGAC	0.716													C	50819081	G	C	50819081	3	2	27	1	0	0	0	0	1	0	0	0	14427	1203	42	5	297	5	SLC18A3	10	50819081	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	82597	50819081	84715666	4797	28748											
CHAT	1103	broad.mit.edu	37	chr10	50833609	50833609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcttctcctcctaccgGctccccggccatacccagga	9	19	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:50833609G>A	uc001jhz.2	+	6	996	c.843G>A	c.(841-843)CGG>CGA	p.R281R	CHAT_uc001jhv.1_Silent_p.R163R|CHAT_uc001jhx.1_Silent_p.R163R|CHAT_uc001jhy.1_Silent_p.R163R|CHAT_uc001jia.2_Silent_p.R163R|CHAT_uc010qgs.1_Silent_p.R163R	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	281					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCTCCTACCGGCTCCCCGGCC	0.587													A	50833609	G	A	50833609	2	1	27	1	0	0	0	0	0	0	0	1	3313	1190	42	2		2	CHAT	10	50833609	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	14528	50833609	84701138	4798	28749											
AGAP7	653268	broad.mit.edu	37	chr10	51465221	51465221	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggctctggatggcttggAcccatgcatcccgctcctca	10	15	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:51465221A>G	uc001jio.2	-	7	1361	c.1235T>C	c.(1234-1236)GTC>GCC	p.V412A	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	412	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						GATGGCTTGGACCCATGCATC	0.552													G	51465221	A	G	51465221	3	3	27	1	0	0	0	0	1	0	0	0	373	275	10	3	760	3	AGAP7	10	51465221	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	631612	51465221	84069526	4799	28750											
SGMS1	259230	broad.mit.edu	37	chr10	52071042	52071042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctttgataaataagtagGtaagtgttagcatgaccgtg	10	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:52071042G>A	uc001jje.2	-	9	1829	c.875C>T	c.(874-876)ACC>ATC	p.T292I	SGMS1_uc010qhk.1_Missense_Mutation_p.T123I|SGMS1_uc009xot.1_RNA	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	298	Helical; (Potential).				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			ovary(1)|kidney(1)	2						AAATAAGTAGGTAAGTGTTAG	0.433													A	52071042	G	A	52071042	3	1	27	1	0	0	0	0	1	0	0	0	14214	1261	44	4	378	4	SGMS1	10	52071042	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	605821	52071042	83463705	4800	28751											
CSTF2T	23283	broad.mit.edu	37	chr10	53457790	53457790	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtatgcctgtaccctgcataCcagctccaggattccccacc	7	17	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:53457790C>G	uc001jjp.2	-	1	1566	c.1520G>C	c.(1519-1521)GGT>GCT	p.G507A	PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit	507	2-1.|9 X 5 AA tandem repeats of G-[AT]-G-[MI]- Q.|Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			ovary(1)	1				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		ACCCTGCATACCAGCTCCAGG	0.328													G	53457790	C	G	53457790	3	3	27	1	0	0	0	0	1	0	0	0	3985	507	18	5	334	5	CSTF2T	10	53457790	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1386748	53457790	82076957	4801	28752											
MBL2	4153	broad.mit.edu	37	chr10	54530479	54530479	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctttggtcctggtgacccAgaaggccctggatttcctgg	12	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:54530479A>G	uc001jjt.2	-	2	320	c.255T>C	c.(253-255)TCT>TCC	p.S85S		NM_000242	NP_000233	P11226	MBL2_HUMAN	soluble mannose-binding lectin precursor	85	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			ovary(1)	1						CTGGTGACCCAGAAGGCCCTG	0.552													G	54530479	A	G	54530479	2	3	27	1	0	0	0	0	0	0	0	1	9350	175	7	3		3	MBL2	10	54530479	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1072689	54530479	81004268	4802	28753											
PCDH15	65217	broad.mit.edu	37	chr10	55566537	55566537	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcagtccccacagggcaAggggcaaatgtaaccagagt	12	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:55566537A>G	uc010qhq.1	-	36	5246	c.4851T>C	c.(4849-4851)CCT>CCC	p.P1617P	PCDH15_uc010qhr.1_Silent_p.P1612P	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD3-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CCACAGGGCAAGGGGCAAATG	0.453										HNSCC(58;0.16)			G	55566537	A	G	55566537	2	3	27	1	0	0	0	0	0	0	0	1	11511	59	3	3		3	PCDH15	10	55566537	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1036058	55566537	79968210	4803	28754											
PCDH15	65217	broad.mit.edu	37	chr10	55582009	55582009	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaggaggtggagggcaaGgaatagaaggaggtggtgga	21	2	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:55582009G>T	uc001jju.1	-	33	5872	c.5477C>A	c.(5476-5478)CCT>CAT	p.P1826H	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1823H|PCDH15_uc010qhw.1_Missense_Mutation_p.P1786H|PCDH15_uc010qhx.1_Missense_Mutation_p.P1757H|PCDH15_uc010qhy.1_Missense_Mutation_p.P1833H|PCDH15_uc010qhz.1_Missense_Mutation_p.P1828H|PCDH15_uc010qia.1_Missense_Mutation_p.P1806H|PCDH15_uc010qib.1_Missense_Mutation_p.P1803H	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1826	Poly-Pro.|Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				tggagggcaaggaatagaagg	0.269										HNSCC(58;0.16)			T	55582009	G	T	55582009	3	4	27	1	0	0	0	0	1	0	0	0	11511	1000	35	5	2000	5	PCDH15	10	55582009	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	15472	55582009	79952738	4804	28755											
ZWINT	11130	broad.mit.edu	37	chr10	58119836	58119836	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagtgtcctcctgagccaGgatgttctgcaggaaatccg	12	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:58119836G>T	uc001jjx.1	-	3	236	c.199C>A	c.(199-201)CTG>ATG	p.L67M	ZWINT_uc001jjy.1_Missense_Mutation_p.L67M|ZWINT_uc001jka.1_Missense_Mutation_p.L67M|ZWINT_uc009xoy.1_Intron	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	67					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						TCCTGAGCCAGGATGTTCTGC	0.572													T	58119836	G	T	58119836	3	4	27	1	0	0	0	0	1	0	0	0	18246	991	35	5	658	5	ZWINT	10	58119836	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2537827	58119836	77414911	4805	28756											
BICC1	80114	broad.mit.edu	37	chr10	60273031	60273031	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccggggcgaccctgcacaGcccggagtggagcgaggagc	18	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:60273031G>T	uc001jki.1	+	1	128	c.128G>T	c.(127-129)AGC>ATC	p.S43I		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	43					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						ACCCTGCACAGCCCGGAGTGG	0.672													T	60273031	G	T	60273031	3	4	27	1	0	0	0	0	1	0	0	0	1427	971	34	5	130	5	BICC1	10	60273031	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2153195	60273031	75261716	4806	28757											
BICC1	80114	broad.mit.edu	37	chr10	60562892	60562892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctaccgaaagccctttgGctgacaagaaggctccaggg	13	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:60562892G>A	uc001jki.1	+	15	2071	c.2071G>A	c.(2071-2073)GCT>ACT	p.A691T	BICC1_uc001jkj.1_Missense_Mutation_p.A332T	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	691					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						AAGCCCTTTGGCTGACAAGAA	0.522													A	60562892	G	A	60562892	3	1	27	1	0	0	0	0	1	0	0	0	1427	1203	42	2	2129	2	BICC1	10	60562892	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	289861	60562892	74971855	4807	28758											
FAM13C	220965	broad.mit.edu	37	chr10	61083850	61083850	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacactctgactggctggatAccacatgctctgtctcctgc	9	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:61083850A>G	uc001jkn.2	-	5	475	c.341T>C	c.(340-342)GTA>GCA	p.V114A	FAM13C_uc001jko.2_Missense_Mutation_p.V114A|FAM13C_uc010qid.1_Missense_Mutation_p.V31A|FAM13C_uc010qie.1_Missense_Mutation_p.V31A|FAM13C_uc010qif.1_Missense_Mutation_p.V136A|FAM13C_uc001jkp.2_Missense_Mutation_p.V31A	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	114										ovary(2)	2						CTGGCTGGATACCACATGCTC	0.483													G	61083850	A	G	61083850	3	3	27	1	0	0	0	0	1	0	0	0	5454	391	14	3	1460	3	FAM13C	10	61083850	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	520958	61083850	74450897	4808	28759											
ANK3	288	broad.mit.edu	37	chr10	61828702	61828702	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctaactttaactgtgcaGctggtggtggtggtagtggt	14	6	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:61828702G>A	uc001jky.2	-	37	12129	c.11937C>T	c.(11935-11937)AGC>AGT	p.S3979S	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	3979	Thr-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TAACTGTGCAGCtggtggtgg	0.284													A	61828702	G	A	61828702	2	1	27	1	0	0	0	0	0	0	0	1	622	962	34	2		2	ANK3	10	61828702	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	744852	61828702	73706045	4809	28760											
ANK3	288	broad.mit.edu	37	chr10	61832930	61832930	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctatcttcatatatcaacTtctctctacctctgtctaat	1	14	7	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:61832930T>C	uc001jky.2	-	37	7901	c.7709A>G	c.(7708-7710)AAG>AGG	p.K2570R	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2570					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						ATATATCAACTTCTCTCTACC	0.408													C	61832930	T	C	61832930	3	2	27	1	0	0	0	0	1	0	0	0	622	1609	56	3	5765	3	ANK3	10	61832930	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4228	61832930	73701817	4810	28761											
ANK3	288	broad.mit.edu	37	chr10	61834285	61834285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggacttttatcttggtcGtgttgagaaaagtcatcagg	12	5	3	1	rs116585069	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:61834285G>A	uc001jky.2	-	37	6546	c.6354C>T	c.(6352-6354)CAC>CAT	p.H2118H	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2118					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TATCTTGGTCGTGTTGAGAAA	0.428													A	61834285	G	A	61834285	2	1	27	1	0	0	0	0	0	0	0	1	622	1136	40	1		1	ANK3	10	61834285	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1355	61834285	73700462	4811	28762											
RHOBTB1	9886	broad.mit.edu	37	chr10	62652726	62652726	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agggaattgggattagcaatCgaaaaacagaggaccacaac	11	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:62652726C>A	uc001jli.2	-	6	762	c.324G>T	c.(322-324)TCG>TCT	p.S108S	RHOBTB1_uc001jlh.2_Silent_p.S108S|RHOBTB1_uc001jlj.2_Silent_p.S108S|RHOBTB1_uc001jlk.2_Silent_p.S108S|RHOBTB1_uc009xpe.1_Intron	NM_014836	NP_055651	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	108	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			upper_aerodigestive_tract(1)	1	Prostate(12;0.0112)					GATTAGCAATCGAAAAACAGA	0.403													A	62652726	C	A	62652726	2	1	27	1	0	0	0	0	0	0	0	1	13333	871	31	5		5	RHOBTB1	10	62652726	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	818441	62652726	72882021	4812	28763											
TMEM26	219623	broad.mit.edu	37	chr10	63188896	63188896	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagataagttattcacaaaAactttggcctgtttaacaga	7	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:63188896A>G	uc001jlo.2	-	4	762	c.393T>C	c.(391-393)GTT>GTC	p.V131V	TMEM26_uc010qij.1_RNA|TMEM26_uc001jlq.2_RNA	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	131						integral to membrane					0	Prostate(12;0.0112)					TATTCACAAAAACTTTGGCCT	0.383													G	63188896	A	G	63188896	2	3	27	1	0	0	0	0	0	0	0	1	16148	1	1	3		3	TMEM26	10	63188896	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	536170	63188896	72345851	4813	28764											
RTKN2	219790	broad.mit.edu	37	chr10	63976892	63976892	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaccttgttaatgggtacTaccaaagctggttccacttt	7	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:63976892T>C	uc001jlw.2	-	9	1102	c.1005A>G	c.(1003-1005)GTA>GTG	p.V335V	RTKN2_uc009xpf.1_Silent_p.V116V	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	rhotekin 2	335	PH.				signal transduction	intracellular					0	Prostate(12;0.0297)|all_hematologic(501;0.215)					TAATGGGTACTACCAAAGCTG	0.343													C	63976892	T	C	63976892	2	2	27	1	0	0	0	0	0	0	0	1	13723	1509	53	3		3	RTKN2	10	63976892	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	787996	63976892	71557855	4814	28765											
ZNF365	22891	broad.mit.edu	37	chr10	64415333	64415333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaatacacttgcagagtcGtgctgtggtctctccgagct	11	11	1	2	rs141141483		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:64415333G>A	uc001jmd.1	+	4	667	c.333G>A	c.(331-333)TCG>TCA	p.S111S	ZNF365_uc001jmc.2_Intron|ZNF365_uc001jme.1_Intron|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Intron	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform D	111										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					TTGCAGAGTCGTGCTGTGGTC	0.512													A	64415333	G	A	64415333	2	1	27	1	0	0	0	0	0	0	0	1	17866	1132	40	1		1	ZNF365	10	64415333	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	438441	64415333	71119414	4815	28766											
JMJD1C	221037	broad.mit.edu	37	chr10	64937580	64937580	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcttttccttaaaatgTcatccaaatcttcttcctca	1	12	6	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:64937580T>C	uc001jmn.2	-	23	7421	c.7121A>G	c.(7120-7122)GAC>GGC	p.D2374G	JMJD1C_uc001jml.2_Missense_Mutation_p.D2137G|JMJD1C_uc001jmm.2_Missense_Mutation_p.D2086G|JMJD1C_uc010qiq.1_Missense_Mutation_p.D2192G|JMJD1C_uc009xpi.2_Missense_Mutation_p.D2192G|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmk.2_5'Flank|JMJD1C_uc001jmo.2_Missense_Mutation_p.D281G	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	2374	JmjC.				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCTTAAAATGTCATCCAAATC	0.358													C	64937580	T	C	64937580	3	2	27	1	0	0	0	0	1	0	0	0	7950	1667	58	3	517	3	JMJD1C	10	64937580	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	522247	64937580	70597167	4816	28767											
JMJD1C	221037	broad.mit.edu	37	chr10	64944401	64944401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caacctgggtcctagatcagGacgtacaaaaaatcctggca	9	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:64944401G>A	uc001jmn.2	-	21	7228	c.6928C>T	c.(6928-6930)CCT>TCT	p.P2310S	JMJD1C_uc001jml.2_Missense_Mutation_p.P2073S|JMJD1C_uc001jmm.2_Missense_Mutation_p.P2022S|JMJD1C_uc010qiq.1_Missense_Mutation_p.P2128S|JMJD1C_uc009xpi.2_Missense_Mutation_p.P2128S|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_Missense_Mutation_p.P217S	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	2310	JmjC.				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCTAGATCAGGACGTACAAAA	0.358													A	64944401	G	A	64944401	3	1	27	1	0	0	0	0	1	0	0	0	7950	1174	41	4	718	4	JMJD1C	10	64944401	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	6821	64944401	70590346	4817	28768											
CTNNA3	29119	broad.mit.edu	37	chr10	68280520	68280520	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgcagccaaagcaagtgcAgcattaataatctataaaga	7	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:68280520A>G	uc009xpn.1	-	11	1509	c.1386T>C	c.(1384-1386)GCT>GCC	p.A462A	CTNNA3_uc001jmw.2_Silent_p.A462A|CTNNA3_uc001jmx.3_Silent_p.A462A	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	462					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						AAGCAAGTGCAGCATTAATAA	0.239													G	68280520	A	G	68280520	2	3	27	1	0	0	0	0	0	0	0	1	4014	175	7	3		3	CTNNA3	10	68280520	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3336119	68280520	67254227	4818	28769											
LRRTM3	347731	broad.mit.edu	37	chr10	68686693	68686693	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggtttcaatgtaattAggctactgagcggatcagct	10	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:68686693A>G	uc001jmz.1	+	2	569	c.19A>G	c.(19-21)AGG>GGG	p.R7G	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.R7G	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	7						integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						CAATGTAATTAGGCTACTGAG	0.393													G	68686693	A	G	68686693	3	3	27	1	0	0	0	0	1	0	0	0	9041	411	15	3	25	3	LRRTM3	10	68686693	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	406173	68686693	66848054	4819	28770											
LRRTM3	347731	broad.mit.edu	37	chr10	68686785	68686785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacgaggatgccctaagggCtgtaggtgtgaaggcaaaat	15	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:68686785C>T	uc001jmz.1	+	2	661	c.111C>T	c.(109-111)GGC>GGT	p.G37G	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Silent_p.G37G	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	37	Extracellular (Potential).|LRRNT.					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						GCCCTAAGGGCTGTAGGTGTG	0.453													T	68686785	C	T	68686785	2	4	27	1	0	0	0	0	0	0	0	1	9041	784	28	2		2	LRRTM3	10	68686785	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	92	68686785	66847962	4820	28771											
CTNNA3	29119	broad.mit.edu	37	chr10	68979622	68979622	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctctctgatttggagattTtaagtcctgagaaggtaaat	9	5	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:68979622T>C	uc009xpn.1	-	6	709	c.586A>G	c.(586-588)AAA>GAA	p.K196E	CTNNA3_uc001jmw.2_Missense_Mutation_p.K196E|CTNNA3_uc001jmx.3_Missense_Mutation_p.K196E|CTNNA3_uc009xpo.1_Missense_Mutation_p.K56E|CTNNA3_uc001jna.2_Missense_Mutation_p.K208E	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	196					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						TTTGGAGATTTTAAGTCCTGA	0.363													C	68979622	T	C	68979622	3	2	27	1	0	0	0	0	1	0	0	0	4014	1850	64	3	2153	3	CTNNA3	10	68979622	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	292837	68979622	66555125	4821	28772											
CTNNA3	29119	broad.mit.edu	37	chr10	69407206	69407206	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccagtagcttctccacGgtgaatgtttggacctgcag	12	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:69407206G>A	uc009xpn.1	-	2	189	c.66C>T	c.(64-66)ACC>ACT	p.T22T	CTNNA3_uc001jmw.2_Silent_p.T22T|CTNNA3_uc001jmx.3_Silent_p.T22T|CTNNA3_uc009xpo.1_5'UTR|CTNNA3_uc001jna.2_Silent_p.T34T	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	22					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						GCTTCTCCACGGTGAATGTTT	0.393													A	69407206	G	A	69407206	2	1	27	1	0	0	0	0	0	0	0	1	4014	1103	39	1		1	CTNNA3	10	69407206	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	427584	69407206	66127541	4822	28773											
DNAJC12	56521	broad.mit.edu	37	chr10	69583091	69583091	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagctttggggttttcaggAtgcttgtctgggtgacattc	13	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:69583091A>G	uc001jnb.2	-	2	306	c.138T>C	c.(136-138)CAT>CAC	p.H46H	DNAJC12_uc001jnc.2_Silent_p.H46H	NM_021800	NP_068572	Q9UKB3	DJC12_HUMAN	J domain containing protein 1 isoform a	46	J.				protein folding		heat shock protein binding|unfolded protein binding			breast(1)	1						GGTTTTCAGGATGCTTGTCTG	0.343													G	69583091	A	G	69583091	2	3	27	1	0	0	0	0	0	0	0	1	4631	330	12	3		3	DNAJC12	10	69583091	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	175885	69583091	65951656	4823	28774											
MYPN	84665	broad.mit.edu	37	chr10	69948775	69948775	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacatgatgagatccccacGggcaagtgtattgctcccat	9	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:69948775G>A	uc001jnm.3	+	14	3002	c.2817G>A	c.(2815-2817)ACG>ACA	p.T939T	MYPN_uc001jnn.3_Silent_p.T664T|MYPN_uc001jno.3_Silent_p.T939T|MYPN_uc009xpt.2_Silent_p.T939T|MYPN_uc010qit.1_Silent_p.T645T|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	939						nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						AGATCCCCACGGGCAAGTGTA	0.453													A	69948775	G	A	69948775	2	1	27	1	0	0	0	0	0	0	0	1	10098	1103	39	1		1	MYPN	10	69948775	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	365684	69948775	65585972	4824	28775											
PBLD	64081	broad.mit.edu	37	chr10	70056653	70056653	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatatttactttgtgcaaaGttgtctgtcgggtgcagttt	11	6	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:70056653G>A	uc001jns.1	-	3	377	c.174C>T	c.(172-174)AAC>AAT	p.N58N	PBLD_uc001jnr.1_Silent_p.N25N|PBLD_uc001jnt.1_Silent_p.N58N|PBLD_uc001jnu.1_Silent_p.N58N|PBLD_uc001jnv.1_Silent_p.N58N	NM_022129	NP_071412	P30039	PBLD_HUMAN	MAWD binding protein isoform a	58					biosynthetic process		isomerase activity			skin(2)|ovary(1)	3						TTTGTGCAAAGTTGTCTGTCG	0.234													A	70056653	G	A	70056653	2	1	27	1	0	0	0	0	0	0	0	1	11489	1020	36	4		4	PBLD	10	70056653	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	107878	70056653	65478094	4825	28776											
DNA2	1763	broad.mit.edu	37	chr10	70204764	70204764	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcaaagaagcaagctgTgtcttctgtctagtagcaga	12	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:70204764T>C	uc001jof.2	-	8	1392	c.1392A>G	c.(1390-1392)ACA>ACG	p.T464T	DNA2_uc001jog.1_Silent_p.T378T|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	378					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						AAGCAAGCTGTGTCTTCTGTC	0.333													C	70204764	T	C	70204764	2	2	27	1	0	0	0	0	0	0	0	1	4596	1683	59	3		3	DNA2	10	70204764	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	148111	70204764	65329983	4826	28777											
TET1	80312	broad.mit.edu	37	chr10	70404504	70404504	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccccaagtcagaatccatggActacagtagatgtggtcatg	10	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:70404504A>T	uc001jok.3	+	4	2523	c.2018A>T	c.(2017-2019)GAC>GTC	p.D673V		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	673	Sufficient for binding to genomic CpG islands.				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						GAATCCATGGACTACAGTAGA	0.363													T	70404504	A	T	70404504	3	4	27	1	0	0	0	0	1	0	0	0	15766	275	10	5	2028	5	TET1	10	70404504	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	199740	70404504	65130243	4827	28778											
CCAR1	55749	broad.mit.edu	37	chr10	70496769	70496769	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacaaactgctgcattgcaGcaacaagccgcagctgcagc	9	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:70496769G>T	uc001joo.2	+	3	329	c.210G>T	c.(208-210)CAG>CAT	p.Q70H	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_5'UTR|CCAR1_uc009xpx.1_Missense_Mutation_p.Q70H|CCAR1_uc001jon.1_Missense_Mutation_p.A60S|CCAR1_uc010qiz.1_Missense_Mutation_p.Q70H|CCAR1_uc010qja.1_Missense_Mutation_p.Q70H|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	70					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7						CTGCATTGCAGCAACAAGCCG	0.408													T	70496769	G	T	70496769	3	4	27	1	0	0	0	0	1	0	0	0	2730	962	34	5	216	5	CCAR1	10	70496769	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	92265	70496769	65037978	4828	28779											
CCAR1	55749	broad.mit.edu	37	chr10	70500386	70500386	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttatttttctgttttcagTtacagcaaccccagcaaacc	5	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:70500386T>C	uc001joo.2	+	5	411	c.292T>C	c.(292-294)TTA>CTA	p.L98L	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_5'UTR|CCAR1_uc009xpx.1_Intron|CCAR1_uc001jon.1_Intron|CCAR1_uc010qiz.1_Silent_p.L83L|CCAR1_uc010qja.1_Silent_p.L83L|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	98					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7						CTGTTTTCAGTTACAGCAACC	0.318													C	70500386	T	C	70500386	2	2	27	1	0	0	0	0	0	0	0	1	2730	1739	60	3		3	CCAR1	10	70500386	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3617	70500386	65034361	4829	28780											
STOX1	219736	broad.mit.edu	37	chr10	70645238	70645238	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgataaaatggaagcagaAtccatttacataaatgaccc	6	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:70645238A>G	uc001jos.2	+	3	1773	c.1686A>G	c.(1684-1686)GAA>GAG	p.E562E	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Silent_p.E452E	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	562						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2						TGGAAGCAGAATCCATTTACA	0.413													G	70645238	A	G	70645238	2	3	27	1	0	0	0	0	0	0	0	1	15318	98	4	3		3	STOX1	10	70645238	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	144852	70645238	64889509	4830	28781											
EIF4EBP2	1979	broad.mit.edu	37	chr10	72179739	72179739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccatggctcagaccccacCctgccacctgcccaatatcc	5	21	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:72179739C>T	uc001jrb.2	+	2	512	c.215C>T	c.(214-216)CCC>CTC	p.P72L		NM_004096	NP_004087	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E	72					negative regulation of translational initiation|translation		eukaryotic initiation factor 4E binding				0						CAGACCCCACCCTGCCACCTG	0.443													T	72179739	C	T	72179739	3	4	27	1	0	0	0	0	1	0	0	0	5033	623	22	4	221	4	EIF4EBP2	10	72179739	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1534501	72179739	63355008	4831	28782											
KIAA1274	27143	broad.mit.edu	37	chr10	72291167	72291167	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaacctccagggccttggacCcggggtccgggtggagagcc	17	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:72291167C>A	uc001jrd.3	+	5	871	c.590C>A	c.(589-591)CCC>CAC	p.P197H		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	197										ovary(2)|central_nervous_system(1)	3						GGCCTTGGACCCGGGGTCCGG	0.617													A	72291167	C	A	72291167	3	1	27	1	0	0	0	0	1	0	0	0	8220	623	22	5	604	5	KIAA1274	10	72291167	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	111428	72291167	63243580	4832	28783											
KIAA1274	27143	broad.mit.edu	37	chr10	72297649	72297649	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgatcctgtttaactactAccttcatgagcaggtggggc	10	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:72297649A>G	uc001jrd.3	+	11	1591	c.1310A>G	c.(1309-1311)TAC>TGC	p.Y437C	KIAA1274_uc001jre.3_5'Flank	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	437										ovary(2)|central_nervous_system(1)	3						TTTAACTACTACCTTCATGAG	0.637													G	72297649	A	G	72297649	3	3	27	1	0	0	0	0	1	0	0	0	8220	391	14	3	1348	3	KIAA1274	10	72297649	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	6482	72297649	63237098	4833	28784											
SLC29A3	55315	broad.mit.edu	37	chr10	73082559	73082559	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcacagttcaaactccacCtacagaaccacaagcagcag	6	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:73082559C>A	uc001jrr.3	+	2	105	c.48C>A	c.(46-48)ACC>ACA	p.T16T	SLC29A3_uc001jrs.3_Silent_p.T16T|SLC29A3_uc010qjq.1_5'UTR|SLC29A3_uc001jrt.3_5'UTR|SLC29A3_uc001jru.3_Intron	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (nucleoside	16	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity				0						CAAACTCCACCTACAGAACCA	0.592													A	73082559	C	A	73082559	2	1	27	1	0	0	0	0	0	0	0	1	14536	668	24	5		5	SLC29A3	10	73082559	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	784910	73082559	62452188	4834	28785											
CDH23	64072	broad.mit.edu	37	chr10	73377101	73377101	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccatcactgagctggcacAggtcggctttgcccttccac	11	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:73377101A>G	uc001jrx.3	+	11	1462	c.1085A>G	c.(1084-1086)CAG>CGG	p.Q362R	CDH23_uc001jrw.3_Missense_Mutation_p.Q362R|CDH23_uc009xql.2_Missense_Mutation_p.Q407R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	362	Cadherin 4.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GAGCTGGCACAGGTCGGCTTT	0.557													G	73377101	A	G	73377101	3	3	27	1	0	0	0	0	1	0	0	0	3108	188	7	3	1123	3	CDH23	10	73377101	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	294542	73377101	62157646	4835	28786											
CDH23	64072	broad.mit.edu	37	chr10	73468938	73468938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggaccgggagaccacaGccgcctacatgctcatcctg	11	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:73468938G>A	uc001jrx.3	+	26	3567	c.3190G>A	c.(3190-3192)GCC>ACC	p.A1064T	CDH23_uc001jrz.2_Missense_Mutation_p.A680T	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1064	Cadherin 10.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GGAGACCACAGCCGCCTACAT	0.622													A	73468938	G	A	73468938	3	1	27	1	0	0	0	0	1	0	0	0	3108	971	34	2	3599	2	CDH23	10	73468938	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	91837	73468938	62065809	4836	28787											
CDH23	64072	broad.mit.edu	37	chr10	73537513	73537513	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagccccactatgaggTgctgctggatgagggcccag	14	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:73537513T>C	uc001jrx.3	+	37	5299	c.4922T>C	c.(4921-4923)GTG>GCG	p.V1641A		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1641	Cadherin 16.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CACTATGAGGTGCTGCTGGAT	0.582													C	73537513	T	C	73537513	3	2	27	1	0	0	0	0	1	0	0	0	3108	1696	59	3	5417	3	CDH23	10	73537513	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	68575	73537513	61997234	4837	28788											
OIT3	170392	broad.mit.edu	37	chr10	74692183	74692183	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgctgtgcccagggttgCcaccggcgaatgcgtcgtgg	15	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:74692183C>T	uc001jte.1	+	9	1757	c.1539C>T	c.(1537-1539)TGC>TGT	p.C513C	OIT3_uc009xqs.1_RNA	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	oncoprotein-induced transcript 3 precursor	513	ZP.					nuclear envelope	calcium ion binding			ovary(2)	2	Prostate(51;0.0198)					CCCAGGGTTGCCACCGGCGAA	0.592													T	74692183	C	T	74692183	2	4	27	1	0	0	0	0	0	0	0	1	10849	747	26	2		2	OIT3	10	74692183	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1154670	74692183	60842564	4838	28789											
ZMYND17	118490	broad.mit.edu	37	chr10	75185715	75185715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaggtgctctgtgaaaagCcagtagctacatctacaccc	9	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:75185715C>T	uc001jud.2	-	5	989	c.923G>A	c.(922-924)GGC>GAC	p.G308D	ZMYND17_uc001juc.2_Missense_Mutation_p.G308D|ZMYND17_uc009xrh.2_Missense_Mutation_p.G331D|ZMYND17_uc009xrg.2_Intron	NM_001024593	NP_001019764	Q4VC12	ZMY17_HUMAN	zinc finger, MYND domain containing 17	308							zinc ion binding			ovary(1)	1	Prostate(51;0.0119)					CTGTGAAAAGCCAGTAGCTAC	0.527													T	75185715	C	T	75185715	3	4	27	1	0	0	0	0	1	0	0	0	17706	739	26	2	471	2	ZMYND17	10	75185715	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	493532	75185715	60349032	4839	28790											
PPP3CB	5532	broad.mit.edu	37	chr10	75231343	75231343	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcttccatacaagcttcAtagactctttccgaatactt	4	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:75231343A>G	uc001jue.2	-	5	687	c.552T>C	c.(550-552)TAT>TAC	p.Y184Y	PPP3CB_uc001juf.2_Silent_p.Y184Y|PPP3CB_uc001jug.2_Silent_p.Y184Y|PPP3CB_uc001jui.2_Silent_p.Y202Y|PPP3CB_uc001juh.2_Silent_p.Y98Y	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	184	Catalytic.									skin(1)	1	Prostate(51;0.0119)					TACAAGCTTCATAGACTCTTT	0.328													G	75231343	A	G	75231343	2	3	27	1	0	0	0	0	0	0	0	1	12398	224	8	3		3	PPP3CB	10	75231343	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	45628	75231343	60303404	4840	28791											
USP54	159195	broad.mit.edu	37	chr10	75260443	75260443	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgggctcccctgccatggTgggcatcaggacatctgggg	15	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:75260443T>C	uc001juo.2	-	21	4482	c.4465A>G	c.(4465-4467)ACC>GCC	p.T1489A	USP54_uc010qkk.1_Missense_Mutation_p.T624A|USP54_uc001juk.2_Missense_Mutation_p.T577A|USP54_uc001jul.2_Missense_Mutation_p.T530A|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1489					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					CCTGCCATGGTGGGCATCAGG	0.527													C	75260443	T	C	75260443	3	2	27	1	0	0	0	0	1	0	0	0	17082	1696	59	3	597	3	USP54	10	75260443	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	29100	75260443	60274304	4841	28792											
USP54	159195	broad.mit.edu	37	chr10	75331241	75331241	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgtaagctgcctaaagcTacgtcggaagatatccaagt	10	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:75331241T>C	uc001juo.2	-	2	195	c.178A>G	c.(178-180)AGC>GGC	p.S60G	USP54_uc001jup.2_Missense_Mutation_p.S60G|USP54_uc010qkl.1_Missense_Mutation_p.S60G	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	60					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					TGCCTAAAGCTACGTCGGAAG	0.373													C	75331241	T	C	75331241	3	2	27	1	0	0	0	0	1	0	0	0	17082	1522	53	3	4960	3	USP54	10	75331241	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	70798	75331241	60203506	4842	28793											
SYNPO2L	79933	broad.mit.edu	37	chr10	75406539	75406539	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgttctggtggctgaaaaTcggggcctggctacctggaa	14	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:75406539T>A	uc001jut.3	-	4	3023	c.2871A>T	c.(2869-2871)CGA>CGT	p.R957R	SYNPO2L_uc001jus.3_Silent_p.R733R	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	957						cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)					TGGCTGAAAATCGGGGCCTGG	0.637													A	75406539	T	A	75406539	2	1	27	1	0	0	0	0	0	0	0	1	15455	1422	50	5		5	SYNPO2L	10	75406539	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	75298	75406539	60128208	4843	28794											
KIAA0913	23053	broad.mit.edu	37	chr10	75555382	75555382	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacctggcattagcactAatgatcacttacaaggacga	10	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:75555382A>G	uc009xrl.2	+	15	3011	c.2979A>G	c.(2977-2979)CTA>CTG	p.L993L	KIAA0913_uc001jve.2_Silent_p.L998L|KIAA0913_uc001jvf.2_Silent_p.L993L|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Silent_p.L421L|KIAA0913_uc010qkr.1_Silent_p.L416L|KIAA0913_uc001jvj.2_Silent_p.L416L	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	993							zinc ion binding			breast(1)	1	Prostate(51;0.0112)					CATTAGCACTAATGATCACTT	0.388													G	75555382	A	G	75555382	2	3	27	1	0	0	0	0	0	0	0	1	8200	349	13	3		3	KIAA0913	10	75555382	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	148843	75555382	59979365	4844	28795											
CAMK2G	818	broad.mit.edu	37	chr10	75576871	75576871	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgaggcctggatcacaaaTcttcctacagggagaaaaaa	10	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:75576871T>C	uc001jvv.1	-	19	1448	c.1324A>G	c.(1324-1326)ATT>GTT	p.I442V	CAMK2G_uc001jvm.1_Missense_Mutation_p.I450V|CAMK2G_uc001jvo.1_Missense_Mutation_p.I421V|CAMK2G_uc001jvq.1_Missense_Mutation_p.I398V|CAMK2G_uc001jvr.1_Missense_Mutation_p.I389V|CAMK2G_uc001jvp.1_Missense_Mutation_p.I412V|CAMK2G_uc001jvs.1_Missense_Mutation_p.I433V|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Missense_Mutation_p.I390V|CAMK2G_uc009xrp.1_Missense_Mutation_p.I39V	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	452					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)					GGATCACAAATCTTCCTACAG	0.478													C	75576871	T	C	75576871	3	2	27	1	0	0	0	0	1	0	0	0	2602	1435	50	3	330	3	CAMK2G	10	75576871	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	21489	75576871	59957876	4845	28796											
VCL	7414	broad.mit.edu	37	chr10	75868743	75868743	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttagctaacagatgagctTgctcctcccaaaccacctct	5	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:75868743T>C	uc001jwd.2	+	18	2668	c.2574T>C	c.(2572-2574)CTT>CTC	p.L858L	VCL_uc009xrr.2_Silent_p.L607L|VCL_uc010qky.1_Silent_p.L765L|VCL_uc001jwe.2_Silent_p.L858L|VCL_uc010qkz.1_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	858	Linker (Pro-rich).|Pro-rich.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)					CAGATGAGCTTGCTCCTCCCA	0.488													C	75868743	T	C	75868743	2	2	27	1	0	0	0	0	0	0	0	1	17136	1799	63	3		3	VCL	10	75868743	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	291872	75868743	59666004	4846	28797											
SAMD8	142891	broad.mit.edu	37	chr10	76924444	76924444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgccatgacggaagtatGtggcatgattctgtgctata	11	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:76924444G>A	uc001jwx.1	+	3	723	c.620G>A	c.(619-621)TGT>TAT	p.C207Y	SAMD8_uc001jwy.1_Missense_Mutation_p.C207Y	NM_144660	NP_653261	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	207	Helical; (Potential).				sphingomyelin biosynthetic process	integral to membrane					0	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					ACGGAAGTATGTGGCATGATT	0.408													A	76924444	G	A	76924444	3	1	27	1	0	0	0	0	1	0	0	0	13825	1377	48	4	626	4	SAMD8	10	76924444	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1055701	76924444	58610303	4847	28798											
DLG5	9231	broad.mit.edu	37	chr10	79556266	79556266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagcatctccttcaccaCgtccagcaaaggccccagaa	6	18	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:79556266C>T	uc001jzk.2	-	28	5321	c.5251G>A	c.(5251-5253)GTG>ATG	p.V1751M	DLG5_uc001jzi.2_Missense_Mutation_p.V506M|DLG5_uc001jzj.2_Missense_Mutation_p.V1166M|DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1751	Guanylate kinase-like.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCCTTCACCACGTCCAGCAAA	0.597													T	79556266	C	T	79556266	3	4	27	1	0	0	0	0	1	0	0	0	4558	536	19	1	528	1	DLG5	10	79556266	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2631822	79556266	55978481	4848	28799											
DLG5	9231	broad.mit.edu	37	chr10	79569349	79569349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggccgtcaggacccttggCaggactgtcatcctccacct	11	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:79569349C>T	uc001jzk.2	-	24	4673	c.4603G>A	c.(4603-4605)GCC>ACC	p.A1535T	DLG5_uc001jzi.2_Missense_Mutation_p.A290T|DLG5_uc001jzj.2_Missense_Mutation_p.A950T|DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1535	PDZ 4.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGACCCTTGGCAGGACTGTCA	0.602													T	79569349	C	T	79569349	3	4	27	1	0	0	0	0	1	0	0	0	4558	710	25	2	1192	2	DLG5	10	79569349	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	13083	79569349	55965398	4849	28800											
POLR3A	11128	broad.mit.edu	37	chr10	79761991	79761991	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccatggtgagggggctgtTgctcttgtccagctcccgga	15	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:79761991T>C	uc001jzn.2	-	17	2417	c.2323A>G	c.(2323-2325)AAC>GAC	p.N775D		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	775					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AGGGGGCTGTTGCTCTTGTCC	0.592													C	79761991	T	C	79761991	3	2	27	1	0	0	0	0	1	0	0	0	12228	1812	63	3	1909	3	POLR3A	10	79761991	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	192642	79761991	55772756	4850	28801											
POLR3A	11128	broad.mit.edu	37	chr10	79773500	79773500	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcagcattatagggtgTacagacacactcattaaatc	7	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:79773500T>C	uc001jzn.2	-	11	1574	c.1480A>G	c.(1480-1482)ACA>GCA	p.T494A		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	494					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TTATAGGGTGTACAGACACAC	0.448													C	79773500	T	C	79773500	3	2	27	1	0	0	0	0	1	0	0	0	12228	1638	57	3	2776	3	POLR3A	10	79773500	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	11509	79773500	55761247	4851	28802											
ZMIZ1	57178	broad.mit.edu	37	chr10	80968104	80968104	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcccacagcacttacagaaTcctgccaacttccacaatgc	4	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:80968104T>A	uc001kaf.2	+	6	644	c.72T>A	c.(70-72)AAT>AAA	p.N24K	ZMIZ1_uc001kae.2_Missense_Mutation_p.N24K	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	24					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ACTTACAGAATCCTGCCAACT	0.622													A	80968104	T	A	80968104	3	1	27	1	0	0	0	0	1	0	0	0	17693	1432	50	5	78	5	ZMIZ1	10	80968104	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1194604	80968104	54566643	4852	28803											
CDHR1	92211	broad.mit.edu	37	chr10	85970802	85970802	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagaagttcagttccacaGcggatgttgtgatccagctc	11	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:85970802G>T	uc001kcv.2	+	13	1366	c.1366G>T	c.(1366-1368)GCG>TCG	p.A456S	CDHR1_uc001kcw.2_Missense_Mutation_p.A456S|CDHR1_uc009xst.2_Intron|CDHR1_uc001kcx.2_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	456	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						CAGTTCCACAGCGGATGTTGT	0.562													T	85970802	G	T	85970802	3	4	27	1	0	0	0	0	1	0	0	0	3118	971	34	5	1416	5	CDHR1	10	85970802	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5002698	85970802	49563945	4853	28804											
CDHR1	92211	broad.mit.edu	37	chr10	85973041	85973041	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccctagaggtgcaggccaaGgaccggggctccccatcctt	12	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:85973041G>T	uc001kcv.2	+	16	1977	c.1977G>T	c.(1975-1977)AAG>AAT	p.K659N	CDHR1_uc001kcw.2_Missense_Mutation_p.K659N|CDHR1_uc009xst.2_Missense_Mutation_p.K363N|CDHR1_uc001kcx.2_Translation_Start_Site	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	659	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						TGCAGGCCAAGGACCGGGGCT	0.567													T	85973041	G	T	85973041	3	4	27	1	0	0	0	0	1	0	0	0	3118	991	35	5	2039	5	CDHR1	10	85973041	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2239	85973041	49561706	4854	28805											
GRID1	2894	broad.mit.edu	37	chr10	87373349	87373349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacagcggcccatgtgcgGccaccacttctgcttcagca	10	16	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:87373349G>A	uc001kdl.1	-	15	2517	c.2416C>T	c.(2416-2418)CCG>TCG	p.P806S	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.P377S	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	806	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	CCCATGTGCGGCCACCACTTC	0.602										Multiple Myeloma(13;0.14)			A	87373349	G	A	87373349	3	1	27	1	0	0	0	0	1	0	0	0	6771	1203	42	2	621	2	GRID1	10	87373349	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1400308	87373349	48161398	4855	28806											
MMRN2	79812	broad.mit.edu	37	chr10	88703005	88703005	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtctcctccagggcacgCgtggcgtccctctggccctc	13	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:88703005C>T	uc001kea.2	-	6	1663	c.1536G>A	c.(1534-1536)ACG>ACA	p.T512T	MMRN2_uc010qmn.1_Silent_p.T155T|MMRN2_uc009xtb.2_Silent_p.T469T	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	512						extracellular space				large_intestine(1)	1						CCAGGGCACGCGTGGCGTCCC	0.657													T	88703005	C	T	88703005	2	4	27	1	0	0	0	0	0	0	0	1	9671	755	27	1		1	MMRN2	10	88703005	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1329656	88703005	46831742	4856	28807											
MMRN2	79812	broad.mit.edu	37	chr10	88703232	88703232	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgccgtgtggttcacctGcagctcctccacctgccgct	11	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:88703232G>A	uc001kea.2	-	6	1436	c.1309C>T	c.(1309-1311)CAG>TAG	p.Q437*	MMRN2_uc010qmn.1_Nonsense_Mutation_p.Q80*|MMRN2_uc009xtb.2_Nonsense_Mutation_p.Q394*	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	437	Potential.					extracellular space				large_intestine(1)	1						TGGTTCACCTGCAGCTCCTCC	0.587													A	88703232	G	A	88703232	4	1	27	1	0	0	0	0	0	1	0	0	9671	1328	46	2	1548	2	MMRN2	10	88703232	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	227	88703232	46831515	4857	28808											
MMRN2	79812	broad.mit.edu	37	chr10	88705404	88705404	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgttttgcaaagagcTagtaaggtgaccagcttgga	11	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:88705404T>C	uc001kea.2	-	2	334	c.207A>G	c.(205-207)CTA>CTG	p.L69L	MMRN2_uc010qmn.1_5'UTR|MMRN2_uc009xtb.2_Intron	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	69	EMI.					extracellular space				large_intestine(1)	1						TGCAAAGAGCTAGTAAGGTGA	0.552													C	88705404	T	C	88705404	2	2	27	1	0	0	0	0	0	0	0	1	9671	1509	53	3		3	MMRN2	10	88705404	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2172	88705404	46829343	4858	28809											
MINPP1	9562	broad.mit.edu	37	chr10	89312069	89312069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactcctaaagaacaattccGagtgcagatgttattaaatg	8	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:89312069G>A	uc001keu.2	+	5	1748	c.1298G>A	c.(1297-1299)CGA>CAA	p.R433Q	MINPP1_uc009xtf.1_RNA|MINPP1_uc001kev.2_3'UTR	NM_004897	NP_004888	Q9UNW1	MINP1_HUMAN	multiple inositol polyphosphate histidine	433					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			urinary_tract(1)	1		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		GAACAATTCCGAGTGCAGATG	0.388													A	89312069	G	A	89312069	3	1	27	1	0	0	0	0	1	0	0	0	9588	1058	37	1	1354	1	MINPP1	10	89312069	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	606665	89312069	46222678	4859	28810											
PAPSS2	9060	broad.mit.edu	37	chr10	89469058	89469058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggttccgaggatgtaccGtgtggctaacaggtatgtca	15	7	1	0	rs142362349		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:89469058G>A	uc001kex.2	+	2	396	c.133G>A	c.(133-135)GTG>ATG	p.V45M	PAPSS2_uc001kew.2_Missense_Mutation_p.V45M|PAPSS2_uc009xtg.1_RNA	NM_004670	NP_004661	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	45	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|skin(1)	2		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		AGGATGTACCGTGTGGCTAAC	0.408													A	89469058	G	A	89469058	3	1	27	1	0	0	0	0	1	0	0	0	11435	1145	40	1	139	1	PAPSS2	10	89469058	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	156989	89469058	46065689	4860	28811											
PTEN	5728	broad.mit.edu	37	chr10	89653796	89653798	+	In_Frame_Del	DEL	ATT	ATT	-													actcagatatttatccaaacAttattgctatgggatttcct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:89653795_89653797CATT>C	uc001kfb.3	+	1	1125_1127	c.93_95CATT>C	c.(91-96)aacatt>aaCt	p.I33del	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	33	Phosphatase tensin-type.		Missing (in CD).		T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(8)|p.I32del(7)|p.I33del(2)|p.Y27fs*1(2)|p.I33fs*21(2)|p.I33S(2)|p.Y27_N212>Y(2)|p.I32fs*22(2)|p.I33fs*20(1)|p.N31K(1)|p.N31N(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTATCCAAACATTATTGCTATG	0.291		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89653798	ATT	-	89653796	7	5	27	1	0	1	0	1	0	0	0	0	12738	217	8	0	100	0	PTEN	10	89653796	In_Frame_Del	DEL	ATT	TCGA-BR-6452-01A-12D-1800-08	184738	89653796	45880951	4861	28812											
PTEN	5728	broad.mit.edu	37	chr10	89653818	89653818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattgctatgggatttcctgCagaaagacttgaaggcgtat	11	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:89653818C>T	uc001kfb.2	+	3	1147	c.116C>T	c.(115-117)GCA>GTA	p.A39V		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	39	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(4)|p.Y27_N212>Y(2)|p.Y27fs*1(2)|p.A39fs*5(1)|p.A39T(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGATTTCCTGCAGAAAGACTT	0.294		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89653818	C	T	89653818	3	4	27	1	0	0	0	0	1	0	0	0	12738	710	25	2	122	2	PTEN	10	89653818	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	22	89653818	45880929	4862	28813											
PTEN	5728	broad.mit.edu	37	chr10	89685303	89685303	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagcataaaaaccattacaaGatatacaatctgtaagtatg	5	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:89685303G>A	uc001kfb.2	+	4	1229	c.198G>A	c.(196-198)AAG>AAA	p.K66K		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	66	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(4)|p.R55fs*1(4)|p.K66N(3)|p.K66E(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.K66fs*38(1)|p.K66Q(1)|p.V54fs*29(1)|p.R55_L70>S(1)|p.F56fs*2(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACCATTACAAGATATACAATC	0.279		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89685303	G	A	89685303	2	1	27	1	0	0	0	0	0	0	0	1	12738	933	33	4		4	PTEN	10	89685303	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	31485	89685303	45849444	4863	28814											
PTEN	5728	broad.mit.edu	37	chr10	89692811	89692811	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accataacccaccacagctaGaacttatcaaacccttttgt	3	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:89692811G>A	uc001kfb.2	+	6	1326	c.295G>A	c.(295-297)GAA>AAA	p.E99K		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	99	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R55fs*1(4)|p.E99*(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.E99fs*15(1)|p.F56fs*2(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACCACAGCTAGAACTTATCAA	0.363		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89692811	G	A	89692811	3	1	27	1	0	0	0	0	1	0	0	0	12738	943	33	4	313	4	PTEN	10	89692811	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	7508	89692811	45841936	4864	28815											
PTEN	5728	broad.mit.edu	37	chr10	89692895	89692895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaattcactgtaaagctGgaaagggacgaactggtgta	12	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:89692895G>A	uc001kfb.2	+	6	1410	c.379G>A	c.(379-381)GGA>AGA	p.G127R		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	127	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R55fs*1(4)|p.G127E(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.A121_F145del(1)|p.G127fs*5(1)|p.G127V(1)|p.F56fs*2(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTGTAAAGCTGGAAAGGGACG	0.408		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89692895	G	A	89692895	3	1	27	1	0	0	0	0	1	0	0	0	12738	1349	47	4	397	4	PTEN	10	89692895	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	84	89692895	45841852	4865	28816											
PTEN	5728	broad.mit.edu	37	chr10	89720812	89720812	+	Frame_Shift_Del	DEL	A	A	-													tatctagtacttactttaacAaaaaatgatcttgacaaagc					rs121913291		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:89720811_89720811CA>C	uc001kfb.3	+	7	1994	c.962_962CA>C	c.(961-963)acafs	p.T321fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	321	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.T321fs*23(10)|p.T321fs*3(8)|p.R55fs*1(5)|p.L320*(3)|p.T319_K332del(2)|p.T321fs*22(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.T321fs*6(2)|p.N323fs*2(2)|p.G165_*404del(1)|p.L320V(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.T321fs*4(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTACTTTAACAAAAAATGAT	0.328	N323fs*2(MFE319_ENDOMETRIUM)|N323fs*2(RL952_ENDOMETRIUM)|N323fs*2(SKUT1_SOFT_TISSUE)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89720812	A	-	89720812	7	5	27	1	0	1	0	1	0	0	0	0	12738	117	5	0	993	0	PTEN	10	89720812	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	27917	89720812	45813935	4866	28817											
LIPN	643418	broad.mit.edu	37	chr10	90521167	90521167	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgccaggcatttctatgaTgtggctgcttttaacaacaa	8	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:90521167T>C	uc010qmw.1	+	1	5	c.5T>C	c.(4-6)ATG>ACG	p.M2T		NM_001102469	NP_001095939	Q5VXI9	LIPN_HUMAN	lipase-like, ab-hydrolase domain containing 4	2					lipid catabolic process	extracellular region	hydrolase activity				0		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		ATTTCTATGATGTGGCTGCTT	0.299													C	90521167	T	C	90521167	3	2	27	1	0	0	0	0	1	0	0	0	8828	1464	51	3	7	3	LIPN	10	90521167	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	800355	90521167	45013580	4867	28818											
CH25H	9023	broad.mit.edu	37	chr10	90966740	90966740	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcgggcccaatgcagcaGcgtcacggggaacacaaaca	13	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:90966740G>A	uc001kfz.2	-	1	332	c.310C>T	c.(310-312)CTG>TTG	p.L104L		NM_003956	NP_003947	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	104	Helical; (Potential).				bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding				0		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		CAATGCAGCAGCGTCACGGGG	0.622													A	90966740	G	A	90966740	2	1	27	1	0	0	0	0	0	0	0	1	3307	962	34	2		2	CH25H	10	90966740	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	445573	90966740	44568007	4868	28819											
IFIT2	3433	broad.mit.edu	37	chr10	91066414	91066414	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggaaggtgaaggagagaAgttagttgaagaagccttgg	17	2	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:91066414A>G	uc009xts.2	+	2	876	c.701A>G	c.(700-702)AAG>AGG	p.K234R	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	interferon-induced protein with	234					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			ovary(1)|skin(1)	2		Colorectal(252;0.0161)				GAAGGAGAGAAGTTAGTTGAA	0.468													G	91066414	A	G	91066414	3	3	27	1	0	0	0	0	1	0	0	0	7523	72	3	3	707	3	IFIT2	10	91066414	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	99674	91066414	44468333	4869	28820											
KIF20B	9585	broad.mit.edu	37	chr10	91469715	91469715	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaactacacagaaggaatTctttcagggttgcattatgc	9	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:91469715T>G	uc001kgs.1	+	5	455	c.383T>G	c.(382-384)TTC>TGC	p.F128C	KIF20B_uc001kgr.1_Missense_Mutation_p.F128C	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	128	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3						CAGAAGGAATTCTTTCAGGGT	0.348													G	91469715	T	G	91469715	3	3	27	1	0	0	0	0	1	0	0	0	8287	1783	62	5	397	5	KIF20B	10	91469715	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	403301	91469715	44065032	4870	28821											
HTR7	3363	broad.mit.edu	37	chr10	92502258	92502258	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatcatgaatcatgaccTttttttctacagtagtcagc	5	9	5	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:92502258T>C	uc001kha.2	-	4	1664	c.1421A>G	c.(1420-1422)AAG>AGG	p.K474R	HTR7_uc001kgz.2_Silent_p.K441K|HTR7_uc001khb.2_3'UTR	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	474	Cytoplasmic (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	AATCATGACCTTTTTTTCTAC	0.328													C	92502258	T	C	92502258	3	2	27	1	0	0	0	0	1	0	0	0	7452	1609	56	3	22	3	HTR7	10	92502258	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1032543	92502258	43032489	4871	28822											
RPP30	10556	broad.mit.edu	37	chr10	92656116	92656116	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgacgccaaggctgcggtgTccaccaactgccgagcagcg	14	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:92656116T>C	uc009xtx.2	+	10	699	c.664T>C	c.(664-666)TCC>CCC	p.S222P	RPP30_uc001khd.2_Missense_Mutation_p.S222P	NM_006413	NP_006404	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit isoform b	222					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity				0						GGCTGCGGTGTCCACCAACTG	0.493													C	92656116	T	C	92656116	3	2	27	1	0	0	0	0	1	0	0	0	13612	1667	58	3	702	3	RPP30	10	92656116	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	153858	92656116	42878631	4872	28823											
HECTD2	143279	broad.mit.edu	37	chr10	93242786	93242786	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttgctacgacagatagcTaccttagtggaagctgacca	9	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:93242786T>C	uc001khl.2	+	8	874	c.774T>C	c.(772-774)GCT>GCC	p.A258A	LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Silent_p.A258A|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_5'UTR|HECTD2_uc001khn.1_5'Flank	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing 2 isoform a	258					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			skin(1)	1						GACAGATAGCTACCTTAGTGG	0.313													C	93242786	T	C	93242786	2	2	27	1	0	0	0	0	0	0	0	1	7040	1509	53	3		3	HECTD2	10	93242786	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	586670	93242786	42291961	4873	28824											
PPP1R3C	5507	broad.mit.edu	37	chr10	93390605	93390605	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaacttgtcaaaggacgtggAtctaaaacctggatcattct	9	8	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:93390605A>T	uc001kho.2	-	2	165	c.33T>A	c.(31-33)GAT>GAA	p.D11E		NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory (inhibitor)	11							protein serine/threonine phosphatase activity			breast(1)	1		Colorectal(252;0.235)				AAGGACGTGGATCTAAAACCT	0.473													T	93390605	A	T	93390605	3	4	27	1	0	0	0	0	1	0	0	0	12373	330	12	5	924	5	PPP1R3C	10	93390605	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	147819	93390605	42144142	4874	28825											
TNKS2	80351	broad.mit.edu	37	chr10	93602099	93602099	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttctcctgataatgtAaattgccgcgatacccaagg	8	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:93602099A>G	uc001khp.2	+	16	2307	c.2010A>G	c.(2008-2010)GTA>GTG	p.V670V		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	670					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				CTGATAATGTAAATTGCCGCG	0.413													G	93602099	A	G	93602099	2	3	27	1	0	0	0	0	0	0	0	1	16318	349	13	3		3	TNKS2	10	93602099	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	211494	93602099	41932648	4875	28826											
BTAF1	9044	broad.mit.edu	37	chr10	93711220	93711220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attattacagaagaaacttgGccttaatatgggagaagcaa	9	5	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:93711220G>A	uc001khr.2	+	5	559	c.461G>A	c.(460-462)GGC>GAC	p.G154D	BTAF1_uc009xua.1_RNA	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	154					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				AAGAAACTTGGCCTTAATATG	0.363													A	93711220	G	A	93711220	3	1	27	1	0	0	0	0	1	0	0	0	1536	1203	42	2	479	2	BTAF1	10	93711220	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	109121	93711220	41823527	4876	28827											
BTAF1	9044	broad.mit.edu	37	chr10	93740222	93740222	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttttcagaactcttcatcTtggcttatacctatactgcc	5	11	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:93740222T>G	uc001khr.2	+	15	1760	c.1662T>G	c.(1660-1662)TCT>TCG	p.S554S	BTAF1_uc001khs.1_Silent_p.S224S|BTAF1_uc001kht.1_5'UTR	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	554	HEAT 4.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				ACTCTTCATCTTGGCTTATAC	0.353													G	93740222	T	G	93740222	2	3	27	1	0	0	0	0	0	0	0	1	1536	1596	56	5		5	BTAF1	10	93740222	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	29002	93740222	41794525	4877	28828											
KIF11	3832	broad.mit.edu	37	chr10	94373156	94373156	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttgcaggaagtgaaaAcattggccgttctggagctg	13	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:94373156A>G	uc001kic.2	+	8	1120	c.812A>G	c.(811-813)AAC>AGC	p.N271S	KIF11_uc010qnq.1_Intron	NM_004523	NP_004514	P52732	KIF11_HUMAN	kinesin family member 11	271	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			skin(1)	1						GGAAGTGAAAACATTGGCCGT	0.368													G	94373156	A	G	94373156	3	3	27	1	0	0	0	0	1	0	0	0	8272	43	2	3	842	3	KIF11	10	94373156	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	632934	94373156	41161591	4878	28829											
EXOC6	54536	broad.mit.edu	37	chr10	94688101	94688101	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgattttattttagggtgaCgaggaaacatttgaaaacta	9	4	0	3	rs75784691	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:94688101C>T	uc001kig.2	+	9	960	c.894C>T	c.(892-894)GAC>GAT	p.D298D	EXOC6_uc010qnr.1_Silent_p.D314D|EXOC6_uc001kie.2_Silent_p.D293D|EXOC6_uc009xub.2_Silent_p.D298D|EXOC6_uc009xuc.2_Silent_p.D275D|EXOC6_uc001kih.2_RNA	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN	SEC15-like 1 isoform a	298					protein transport|vesicle docking involved in exocytosis	exocyst				skin(1)	1		Colorectal(252;0.123)				TTTAGGGTGACGAGGAAACAT	0.333													T	94688101	C	T	94688101	2	4	27	1	0	0	0	0	0	0	0	1	5308	535	19	1		1	EXOC6	10	94688101	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	314945	94688101	40846646	4879	28830											
CYP26C1	340665	broad.mit.edu	37	chr10	94822706	94822706	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcgagcagctcgtggagaAcctcttctcactgcctctgg	10	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:94822706A>G	uc010qns.1	+	3	659	c.659A>G	c.(658-660)AAC>AGC	p.N220S	CYP26C1_uc009xud.2_RNA	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C,	220					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)	1		Colorectal(252;0.122)				CTCGTGGAGAACCTCTTCTCA	0.711													G	94822706	A	G	94822706	3	3	27	1	0	0	0	0	1	0	0	0	4157	43	2	3	669	3	CYP26C1	10	94822706	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	134605	94822706	40712041	4880	28831											
MYOF	26509	broad.mit.edu	37	chr10	95110997	95110997	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcctgatcccctgggggAccatgtatagatttggcgcc	13	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:95110997A>G	uc001kin.2	-	35	4001	c.3878T>C	c.(3877-3879)GTC>GCC	p.V1293A	MYOF_uc001kio.2_Missense_Mutation_p.V1280A|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1293	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						CCCCTGGGGGACCATGTATAG	0.512													G	95110997	A	G	95110997	3	3	27	1	0	0	0	0	1	0	0	0	10089	275	10	3	2387	3	MYOF	10	95110997	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	288291	95110997	40423750	4881	28832											
MYOF	26509	broad.mit.edu	37	chr10	95119640	95119640	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctttcttgcgttttcggaCcagccttcgccgtctatgag	9	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:95119640C>A	uc001kin.2	-	29	3193	c.3070G>T	c.(3070-3072)GTC>TTC	p.V1024F	MYOF_uc001kio.2_Missense_Mutation_p.V1011F|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1024	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						CGTTTTCGGACCAGCCTTCGC	0.517													A	95119640	C	A	95119640	3	1	27	1	0	0	0	0	1	0	0	0	10089	507	18	5	3219	5	MYOF	10	95119640	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	8643	95119640	40415107	4882	28833											
TMEM20	159371	broad.mit.edu	37	chr10	95660549	95660549	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcaacgaattttcctcAttctcagaggagtccttggt	9	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:95660549A>G	uc001kjg.1	+	3	461	c.400A>G	c.(400-402)ATT>GTT	p.I134V	TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Missense_Mutation_p.I133V|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Missense_Mutation_p.I117V|TMEM20_uc001kjj.2_Intron	NM_001134658	NP_001128130	Q2M3R5	TMM20_HUMAN	transmembrane protein 20 isoform 1	134	DUF6 1.|Helical; (Potential).					integral to membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;3.46e-05)|Renal(717;0.018)|Ovarian(717;0.0228)|all_hematologic(284;0.189)		STAD - Stomach adenocarcinoma(243;0.00345)		AATTTTCCTCATTCTCAGAGG	0.353													G	95660549	A	G	95660549	3	3	27	1	0	0	0	0	1	0	0	0	16119	217	8	3	410	3	TMEM20	10	95660549	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	540909	95660549	39874198	4883	28834											
PLCE1	51196	broad.mit.edu	37	chr10	96033402	96033402	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcttccttcacctgaccaActcagaaagaaagttcttct	5	12	4	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:96033402A>G	uc001kjk.2	+	19	5224	c.4590A>G	c.(4588-4590)CAA>CAG	p.Q1530Q	PLCE1_uc010qnx.1_Silent_p.Q1514Q|PLCE1_uc001kjm.2_Silent_p.Q1222Q	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1530	PI-PLC X-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				CACCTGACCAACTCAGAAAGA	0.383													G	96033402	A	G	96033402	2	3	27	1	0	0	0	0	0	0	0	1	12034	40	2	3		3	PLCE1	10	96033402	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	372853	96033402	39501345	4884	28835											
PLCE1	51196	broad.mit.edu	37	chr10	96084175	96084175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagcgactatgtgcttttgGaagaggtggtgaaagacact	13	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:96084175G>A	uc001kjk.2	+	31	7205	c.6571G>A	c.(6571-6573)GAA>AAA	p.E2191K	PLCE1_uc010qnx.1_Missense_Mutation_p.E2175K|PLCE1_uc001kjm.2_Missense_Mutation_p.E1883K|PLCE1_uc001kjp.2_Missense_Mutation_p.E549K	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	2191	Ras-associating 2.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				TGTGCTTTTGGAAGAGGTGGT	0.448													A	96084175	G	A	96084175	3	1	27	1	0	0	0	0	1	0	0	0	12034	1175	41	4	6975	4	PLCE1	10	96084175	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	50773	96084175	39450572	4885	28836											
NOC3L	64318	broad.mit.edu	37	chr10	96109949	96109949	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaatgaggtagtgccaccAacagctcacacaagctcttc	7	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:96109949A>G	uc001kjq.1	-	9	1137	c.1049T>C	c.(1048-1050)TTG>TCG	p.L350S	NOC3L_uc009xuk.1_Missense_Mutation_p.L135S	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog	350						nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)				TAGTGCCACCAACAGCTCACA	0.403													G	96109949	A	G	96109949	3	3	27	1	0	0	0	0	1	0	0	0	10514	131	5	3	1405	3	NOC3L	10	96109949	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	25774	96109949	39424798	4886	28837											
HELLS	3070	broad.mit.edu	37	chr10	96313922	96313922	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagtcgacagaaattcggTaccgtagacttcaacatttg	10	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:96313922T>C	uc001kjt.2	+	3	298	c.193T>C	c.(193-195)TAC>CAC	p.Y65H	HELLS_uc001kjs.2_Missense_Mutation_p.Y49H|HELLS_uc009xul.2_Missense_Mutation_p.Y65H|HELLS_uc009xum.2_Missense_Mutation_p.Y65H|HELLS_uc009xun.2_5'UTR|HELLS_uc009xuo.2_Missense_Mutation_p.Y65H|HELLS_uc001kju.2_5'UTR|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_5'UTR|HELLS_uc009xur.2_RNA	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	65	Potential.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			ovary(1)|kidney(1)	2		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		AGAAATTCGGTACCGTAGACT	0.338													C	96313922	T	C	96313922	3	2	27	1	0	0	0	0	1	0	0	0	7046	1638	57	3	203	3	HELLS	10	96313922	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	203973	96313922	39220825	4887	28838											
CYP2C19	1557	broad.mit.edu	37	chr10	96535189	96535189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatggaaggagatccggcGtttctccctcatgacgctgc	13	11	2	3	rs141774245	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:96535189G>A	uc010qnz.1	+	3	374	c.374G>A	c.(373-375)CGT>CAT	p.R125H	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Missense_Mutation_p.R103H	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	125					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAGATCCGGCGTTTCTCCCTC	0.507													A	96535189	G	A	96535189	3	1	27	1	0	0	0	0	1	0	0	0	4166	1145	40	1	384	1	CYP2C19	10	96535189	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	221267	96535189	38999558	4888	28839											
CCNJ	54619	broad.mit.edu	37	chr10	97817790	97817790	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaagctgtcagcagattgTatcgaccacacacacctcat	6	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:97817790T>C	uc001klm.2	+	6	1270	c.911T>C	c.(910-912)GTA>GCA	p.V304A	uc001klg.1_Intron|uc001klj.1_Intron|uc009xvb.1_Intron|CCNJ_uc010qoq.1_Missense_Mutation_p.V315A|CCNJ_uc001kln.2_Missense_Mutation_p.V303A	NM_019084	NP_061957	Q5T5M9	CCNJ_HUMAN	cyclin J isoform 2	304						nucleus				ovary(1)	1				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		CAGCAGATTGTATCGACCACA	0.502													C	97817790	T	C	97817790	3	2	27	1	0	0	0	0	1	0	0	0	2928	1638	57	3	962	3	CCNJ	10	97817790	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1282601	97817790	37716957	4889	28840											
CCNJ	54619	broad.mit.edu	37	chr10	97817887	97817887	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacatgcagactggtgttggGatgtcactggcaataccagt	12	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:97817887G>A	uc001klm.2	+	6	1367	c.1008G>A	c.(1006-1008)GGG>GGA	p.G336G	uc001klg.1_Intron|uc001klj.1_Intron|uc009xvb.1_Intron|CCNJ_uc010qoq.1_Silent_p.G347G|CCNJ_uc001kln.2_Silent_p.G335G	NM_019084	NP_061957	Q5T5M9	CCNJ_HUMAN	cyclin J isoform 2	336						nucleus				ovary(1)	1				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		CTGGTGTTGGGATGTCACTGG	0.453													A	97817887	G	A	97817887	2	1	27	1	0	0	0	0	0	0	0	1	2928	1161	41	4		4	CCNJ	10	97817887	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	97	97817887	37716860	4890	28841											
DNTT	1791	broad.mit.edu	37	chr10	98087280	98087280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagggcagaagcagaggcCgtcagtgtgctggttaaaga	15	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:98087280C>T	uc001kmf.2	+	7	1100	c.930C>T	c.(928-930)GCC>GCT	p.A310A	DNTT_uc001kmg.2_Silent_p.A310A	NM_004088	NP_004079	P04053	TDT_HUMAN	terminal deoxynucleotidyltransferase isoform 1	310	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(1)	1		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		AAGCAGAGGCCGTCAGTGTGC	0.512													T	98087280	C	T	98087280	2	4	27	1	0	0	0	0	0	0	0	1	4680	639	23	1		1	DNTT	10	98087280	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	269393	98087280	37447467	4891	28842											
TLL2	7093	broad.mit.edu	37	chr10	98192700	98192700	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcccagggctgtgcaggagTgtggtattctcccggccatc	14	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:98192700T>C	uc001kml.1	-	4	610	c.384A>G	c.(382-384)ACA>ACG	p.T128T	TLL2_uc009xvf.1_Intron	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	128					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGTGCAGGAGTGTGGTATTCT	0.522													C	98192700	T	C	98192700	2	2	27	1	0	0	0	0	0	0	0	1	15943	1683	59	3		3	TLL2	10	98192700	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	105420	98192700	37342047	4892	28843											
TM9SF3	56889	broad.mit.edu	37	chr10	98303917	98303917	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgccacacaccatagcTgggataaggaatgccccaat	10	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:98303917T>G	uc001kmm.3	-	9	1318	c.1101A>C	c.(1099-1101)CCA>CCC	p.P367P	TM9SF3_uc010qot.1_Silent_p.P367P|TM9SF3_uc001kmn.1_Silent_p.P136P	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	367	Helical; (Potential).					integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		ACACCATAGCTGGGATAAGGA	0.363													G	98303917	T	G	98303917	2	3	27	1	0	0	0	0	0	0	0	1	15976	1567	55	5		5	TM9SF3	10	98303917	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	111217	98303917	37230830	4893	28844											
TM9SF3	56889	broad.mit.edu	37	chr10	98307727	98307727	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcatagacaaatatggctgTactgagcattgatcccctcc	8	11	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:98307727T>C	uc001kmm.3	-	8	1196	c.979A>G	c.(979-981)ACA>GCA	p.T327A	TM9SF3_uc010qot.1_Missense_Mutation_p.T327A|TM9SF3_uc001kmn.1_Missense_Mutation_p.T96A	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	327						integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		AATATGGCTGTACTGAGCATT	0.338													C	98307727	T	C	98307727	3	2	27	1	0	0	0	0	1	0	0	0	15976	1638	57	3	822	3	TM9SF3	10	98307727	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3810	98307727	37227020	4894	28845											
PIK3AP1	118788	broad.mit.edu	37	chr10	98355389	98355389	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggtctccctggtcggaGgcctaaaatgaaagataagg	14	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:98355389G>T	uc001kmq.2	-	17	2491	c.2363C>A	c.(2362-2364)CCT>CAT	p.P788H	PIK3AP1_uc001kmo.2_Missense_Mutation_p.P387H|PIK3AP1_uc001kmp.2_Missense_Mutation_p.P610H	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	788	Pro-rich.					cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CCTGGTCGGAGGCCTAAAATG	0.423													T	98355389	G	T	98355389	3	4	27	1	0	0	0	0	1	0	0	0	11908	1000	35	5	58	5	PIK3AP1	10	98355389	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	47662	98355389	37179358	4895	28846											
PIK3AP1	118788	broad.mit.edu	37	chr10	98416661	98416661	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaccttctcgtcctcaggcTcagtgtcagtgactgagtca	9	13	5	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:98416661T>C	uc001kmq.2	-	3	589	c.461A>G	c.(460-462)GAG>GGG	p.E154G	PIK3AP1_uc001kmp.2_5'UTR	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	154						cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTCCTCAGGCTCAGTGTCAGT	0.552													C	98416661	T	C	98416661	3	2	27	1	0	0	0	0	1	0	0	0	11908	1551	54	3	2016	3	PIK3AP1	10	98416661	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	61272	98416661	37118086	4896	28847											
LCOR	84458	broad.mit.edu	37	chr10	98714929	98714929	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctggattacagaatcatggAcaacacttaatattatccag	6	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:98714929A>T	uc001kms.1	+	8	1073	c.552A>T	c.(550-552)GGA>GGT	p.G184G	LCOR_uc001kmr.2_Silent_p.G184G|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Silent_p.G184G|LCOR_uc001kmu.1_Silent_p.G184G	NM_032440	NP_115816	Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	184						nucleus	DNA binding			ovary(3)	3		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		AGAATCATGGACAACACTTAA	0.478													T	98714929	A	T	98714929	2	4	27	1	0	0	0	0	0	0	0	1	8689	262	10	5		5	LCOR	10	98714929	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	298268	98714929	36819818	4897	28848											
C10orf12	26148	broad.mit.edu	37	chr10	98741550	98741550	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacactcaagaaccaagatgAtatcaacctccatcaagaca	5	12	3	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:98741550A>G	uc001kmv.2	+	1	510	c.403A>G	c.(403-405)ATA>GTA	p.I135V	C10orf12_uc009xvg.1_Missense_Mutation_p.I445V	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	135										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AACCAAGATGATATCAACCTC	0.448													G	98741550	A	G	98741550	3	3	27	1	0	0	0	0	1	0	0	0	1589	333	12	3	405	3	C10orf12	10	98741550	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	26621	98741550	36793197	4898	28849											
C10orf12	26148	broad.mit.edu	37	chr10	98742636	98742637	+	Frame_Shift_Ins	INS	-	-	A													ggacaagaagaaaaaaggtaINSaaaaattccctgaggcctct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:98742635_98742636T>TA	uc001kmv.3	+	0	1595_1596	c.1488_1489T>TA	c.(1486-1491)ggtaaafs	p.G496fs		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	496										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGAAAAAAGGTAAAAAATTCCC	0.421													A	98742637	-	A	98742636	7	5	27	1	0	1	1	0	0	0	0	0	1589	363	13	0	1491	0	C10orf12	10	98742636	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	1086	98742636	36792111	4899	28850											
ARHGAP19	84986	broad.mit.edu	37	chr10	99016073	99016073	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatgctatcccttacctAccttaaaaagtttctgggag	6	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:99016073A>G	uc001knb.2	-	6	956	c.927_splice	c.e6+1	p.K309_splice	ARHGAP19_uc001kmy.2_Splice_Site|ARHGAP19_uc001kna.2_Splice_Site_p.K300_splice|ARHGAP19_uc009xvi.2_Splice_Site|ARHGAP19_uc009xvj.2_Intron|ARHGAP19_uc009xvk.2_Splice_Site_p.K103_splice	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity				0		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		TCCCTTACCTACCTTAAAAAG	0.403													G	99016073	A	G	99016073	5	3	27	1	0	0	0	0	0	0	1	0	869	405	14	3	583	3	ARHGAP19	10	99016073	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	273437	99016073	36518674	4900	28851											
MMS19	64210	broad.mit.edu	37	chr10	99236709	99236709	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaggtgaagtcagctcctaGgctctttagctctgggaagg	13	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:99236709G>T	uc001kns.3	-	7	730	c.505C>A	c.(505-507)CTA>ATA	p.L169I	MMS19_uc009xvt.2_Missense_Mutation_p.L11I|MMS19_uc001knr.2_Missense_Mutation_p.L11I|MMS19_uc010qox.1_Intron|MMS19_uc001knt.2_Missense_Mutation_p.L169I|MMS19_uc001knu.1_RNA	NM_022362	NP_071757	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog	169					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity				0		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		TCAGCTCCTAGGCTCTTTAGC	0.507								Direct_reversal_of_damage|NER					T	99236709	G	T	99236709	3	4	27	1	0	0	0	0	1	0	0	0	9672	991	35	5	2687	5	MMS19	10	99236709	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	220636	99236709	36298038	4901	28852											
UBTD1	80019	broad.mit.edu	37	chr10	99327773	99327773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgagttctgggacacagCgcctgccttcgagggccgca	15	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:99327773C>T	uc001knv.1	+	2	366	c.173C>T	c.(172-174)GCG>GTG	p.A58V		NM_024954	NP_079230	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	58											0		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		TGGGACACAGCGCCTGCCTTC	0.617													T	99327773	C	T	99327773	3	4	27	1	0	0	0	0	1	0	0	0	16904	768	27	1	179	1	UBTD1	10	99327773	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	91064	99327773	36206974	4902	28853											
C10orf62	414157	broad.mit.edu	37	chr10	99349971	99349971	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacatctgggccctcagtgaTccaagagatccaccaggagt	11	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:99349971T>A	uc001koa.2	+	1	488	c.317T>A	c.(316-318)ATC>AAC	p.I106N	DHDPSL_uc001knx.2_Intron|DHDPSL_uc001kny.2_Intron|DHDPSL_uc001knz.2_Intron|PI4K2A_uc010qoy.1_Intron	NM_001009997	NP_001009997	Q5T681	CJ062_HUMAN	hypothetical protein LOC414157	106							protein binding				0		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		CCCTCAGTGATCCAAGAGATC	0.607													A	99349971	T	A	99349971	3	1	27	1	0	0	0	0	1	0	0	0	1611	1435	50	5	319	5	C10orf62	10	99349971	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	22198	99349971	36184776	4903	28854											
C10orf28	27291	broad.mit.edu	37	chr10	99968748	99968748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgagagtgtaggtggtataGccaatagtacaggtttcatc	12	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:99968748G>A	uc001kow.3	+	4	1172	c.877G>A	c.(877-879)GCC>ACC	p.A293T	C10orf28_uc001kox.3_Missense_Mutation_p.A293T|C10orf28_uc001koy.3_Missense_Mutation_p.A293T|C10orf28_uc009xvx.2_Missense_Mutation_p.A293T|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	293							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		AGGTGGTATAGCCAATAGTAC	0.433													A	99968748	G	A	99968748	3	1	27	1	0	0	0	0	1	0	0	0	1601	971	34	2	879	2	C10orf28	10	99968748	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	618777	99968748	35565999	4904	28855											
C10orf28	27291	broad.mit.edu	37	chr10	99968819	99968819	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaactatgggtcacatctcTctgtcagagagcacaaatga	9	10	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:99968819T>C	uc001kow.3	+	4	1243	c.948T>C	c.(946-948)TCT>TCC	p.S316S	C10orf28_uc001kox.3_Silent_p.S316S|C10orf28_uc001koy.3_Silent_p.S316S|C10orf28_uc009xvx.2_Silent_p.S316S|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	316							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		GTCACATCTCTCTGTCAGAGA	0.398													C	99968819	T	C	99968819	2	2	27	1	0	0	0	0	0	0	0	1	1601	1538	54	3		3	C10orf28	10	99968819	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	71	99968819	35565928	4905	28856											
PYROXD2	84795	broad.mit.edu	37	chr10	100157113	100157113	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggacttacctgccttcagcAggggcttgagggtggagagc	16	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:100157113A>G	uc001kpc.2	-	6	700	c.614T>C	c.(613-615)CTG>CCG	p.L205P	PYROXD2_uc001kpb.2_RNA|PYROXD2_uc001kpd.2_RNA|PYROXD2_uc010qpe.1_Missense_Mutation_p.L205P|MIR1287_hsa-mir-1287|MI0006349_5'Flank	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase	205							oxidoreductase activity			central_nervous_system(1)	1						TGCCTTCAGCAGGGGCTTGAG	0.597													G	100157113	A	G	100157113	3	3	27	1	0	0	0	0	1	0	0	0	12867	188	7	3	1175	3	PYROXD2	10	100157113	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	188294	100157113	35377634	4906	28857											
CNNM1	26507	broad.mit.edu	37	chr10	101122008	101122008	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagccctttaagtctctgtAcctttcggagaagatcctgc	10	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:101122008A>G	uc001kpp.3	+	4	2172	c.1883A>G	c.(1882-1884)TAC>TGC	p.Y628C	CNNM1_uc009xwe.2_Missense_Mutation_p.Y628C|CNNM1_uc010qpi.1_Missense_Mutation_p.Y628C|CNNM1_uc009xwf.2_Missense_Mutation_p.Y628C|CNNM1_uc009xwg.2_Missense_Mutation_p.Y28C	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	628					ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		AAGTCTCTGTACCTTTCGGAG	0.542													G	101122008	A	G	101122008	3	3	27	1	0	0	0	0	1	0	0	0	3612	391	14	3	1897	3	CNNM1	10	101122008	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	964895	101122008	34412739	4907	28858											
SLC25A28	81894	broad.mit.edu	37	chr10	101370714	101370714	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctggtaaattactctggcCtgcacccctcggaaataggc	9	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:101370714C>A	uc001kpx.2	-	4	1116	c.987G>T	c.(985-987)CAG>CAT	p.Q329H	SLC25A28_uc001kpy.2_Missense_Mutation_p.Q142H	NM_031212	NP_112489	Q96A46	MFRN2_HUMAN	solute carrier family 25, member 28	329	Helical; Name=6; (Potential).|Solcar 3.				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		TTACTCTGGCCTGCACCCCTC	0.493													A	101370714	C	A	101370714	3	1	27	1	0	0	0	0	1	0	0	0	14491	680	24	5	111	5	SLC25A28	10	101370714	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	248706	101370714	34164033	4908	28859											
ENTPD7	57089	broad.mit.edu	37	chr10	101445607	101445607	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taccactggagtttgacttcCtcttttcacagtctcaagca	6	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:101445607C>A	uc001kqa.3	+	6	785	c.607C>A	c.(607-609)CTC>ATC	p.L203I	ENTPD7_uc009xwl.2_Missense_Mutation_p.L205I	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	203	Vesicular (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GTTTGACTTCCTCTTTTCACA	0.463													A	101445607	C	A	101445607	3	1	27	1	0	0	0	0	1	0	0	0	5144	681	24	5	625	5	ENTPD7	10	101445607	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	74893	101445607	34089140	4909	28860											
ENTPD7	57089	broad.mit.edu	37	chr10	101462387	101462387	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaccgagaggttcagtggAcgctgggagccattctatat	13	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:101462387A>G	uc001kqa.3	+	12	1718	c.1540A>G	c.(1540-1542)ACG>GCG	p.T514A	ENTPD7_uc009xwl.2_Missense_Mutation_p.T516A	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	514	Vesicular (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GGTTCAGTGGACGCTGGGAGC	0.473													G	101462387	A	G	101462387	3	3	27	1	0	0	0	0	1	0	0	0	5144	275	10	3	1582	3	ENTPD7	10	101462387	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	16780	101462387	34072360	4910	28861											
DNMBP	23268	broad.mit.edu	37	chr10	101728939	101728939	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcacacaaacagcctctcTccctcttttagactgggaat	6	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:101728939T>C	uc001kqj.2	-	3	293	c.201A>G	c.(199-201)GGA>GGG	p.G67G		NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	67	SH3 2.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ACAGCCTCTCTCCCTCTTTTA	0.378													C	101728939	T	C	101728939	2	2	27	1	0	0	0	0	0	0	0	1	4674	1538	54	3		3	DNMBP	10	101728939	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	266552	101728939	33805808	4911	28862											
CPN1	1369	broad.mit.edu	37	chr10	101835695	101835695	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagccacctcgtagccgtcGgggttcatggatggcaggat	15	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:101835695G>T	uc001kql.2	-	2	653	c.393C>A	c.(391-393)CCC>CCA	p.P131P		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	131	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CGTAGCCGTCGGGGTTCATGG	0.572													T	101835695	G	T	101835695	2	4	27	1	0	0	0	0	0	0	0	1	3809	1103	39	5		5	CPN1	10	101835695	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	106756	101835695	33699052	4912	28863											
PAX2	5076	broad.mit.edu	37	chr10	102587324	102587324	+	Frame_Shift_Del	DEL	C	C	-													cccttattattatagtgccgCcccccggggctccgcccctg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:102587323_102587323GC>G	uc001krk.4	+	10	1732	c.1182_1182GC>G	c.(1180-1182)ccgfs	p.P394fs	PAX2_uc001krm.4_Frame_Shift_Del_p.A401fs|PAX2_uc001krn.4_Frame_Shift_Del_p.P371fs|PAX2_uc001kro.4_Frame_Shift_Del_p.A378fs|PAX2_uc010qps.2_Frame_Shift_Del_p.A377fs|PAX2_uc001krl.4_3'UTR	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	394					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TTATAGTGCCGCCCCCCGGGG	0.572													-	102587324	C	-	102587324	7	5	27	1	0	1	0	1	0	0	0	0	11479	739	26	0	1331	0	PAX2	10	102587324	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	751629	102587324	32947423	4913	28864											
KAZALD1	81621	broad.mit.edu	37	chr10	102824622	102824622	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcccccagctgcgatcacTaaacctggttcctgaggagg	10	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:102824622T>C	uc001ksr.2	+	5	1785	c.860T>C	c.(859-861)CTA>CCA	p.L287P	KAZALD1_uc001kss.3_RNA|uc001ksu.2_5'Flank	NM_030929	NP_112191	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	287					cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding				0				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		CTGCGATCACTAAACCTGGTT	0.547													C	102824622	T	C	102824622	3	2	27	1	0	0	0	0	1	0	0	0	7989	1522	53	3	874	3	KAZALD1	10	102824622	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	237298	102824622	32710125	4914	28865											
POLL	27343	broad.mit.edu	37	chr10	103344632	103344632	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttccagatcagctgcactAacctgggtttcttccccatc	7	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:103344632A>G	uc001ktg.1	-	4	1384	c.618T>C	c.(616-618)GTT>GTC	p.V206V	DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001kti.1_Silent_p.V206V|POLL_uc001ktj.1_Silent_p.V206V|POLL_uc001ktf.2_Intron|POLL_uc001ktk.1_Intron|POLL_uc010qqa.1_Intron|POLL_uc010qqb.1_Intron|POLL_uc001ktm.2_Silent_p.V206V|POLL_uc001ktl.2_Silent_p.V118V|POLL_uc010qqc.1_Intron|POLL_uc010qqd.1_Missense_Mutation_p.L64S	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	DNA-directed DNA polymerase lambda	206					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding				0		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CAGCTGCACTAACCTGGGTTT	0.512								DNA_polymerases_(catalytic_subunits)					G	103344632	A	G	103344632	2	3	27	1	0	0	0	0	0	0	0	1	12205	349	13	3		3	POLL	10	103344632	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	520010	103344632	32190115	4915	28866											
MGEA5	10724	broad.mit.edu	37	chr10	103553732	103553732	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtctccaattaagaattGtgctgaagaatgactacgac	9	7	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:103553732G>A	uc001ktv.2	-	11	2451	c.2008C>T	c.(2008-2010)CAA>TAA	p.Q670*	MGEA5_uc001ktu.2_Intron|MGEA5_uc010qqe.1_Nonsense_Mutation_p.Q617*|MGEA5_uc009xws.2_Nonsense_Mutation_p.Q617*	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	670	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		ATTAAGAATTGTGCTGAAGAA	0.443													A	103553732	G	A	103553732	4	1	27	1	0	0	0	0	0	1	0	0	9555	1386	48	4	766	4	MGEA5	10	103553732	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	209100	103553732	31981015	4916	28867											
MGEA5	10724	broad.mit.edu	37	chr10	103559054	103559054	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttttcttcttccttggTcagagtagtaggctcaccac	7	11	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:103559054T>C	uc001ktv.2	-	9	1797	c.1354A>G	c.(1354-1356)ACC>GCC	p.T452A	MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Missense_Mutation_p.T399A|MGEA5_uc009xws.2_Missense_Mutation_p.T399A|MGEA5_uc001ktw.2_Missense_Mutation_p.T452A|MGEA5_uc009xwt.2_Missense_Mutation_p.T215A	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	452					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TCTTCCTTGGTCAGAGTAGTA	0.458													C	103559054	T	C	103559054	3	2	27	1	0	0	0	0	1	0	0	0	9555	1667	58	3	1428	3	MGEA5	10	103559054	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	5322	103559054	31975693	4917	28868											
HPS6	79803	broad.mit.edu	37	chr10	103825824	103825824	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgggctgctggcctcctgcaGacaactcttcctggtgccca	11	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:103825824G>T	uc001kuj.2	+	1	678	c.593G>T	c.(592-594)AGA>ATA	p.R198I		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome-6	198						cytosol|early endosome membrane|endoplasmic reticulum|microsome					0		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GCCTCCTGCAGACAACTCTTC	0.667									Hermansky-Pudlak_syndrome				T	103825824	G	T	103825824	3	4	27	1	0	0	0	0	1	0	0	0	7343	942	33	5	595	5	HPS6	10	103825824	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	266770	103825824	31708923	4918	28869											
PPRC1	23082	broad.mit.edu	37	chr10	103900766	103900766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcctagtcctgagccacCtgtaagcaaacctgtggcct	8	14	1	1	rs17855877	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:103900766C>T	uc001kum.2	+	5	2540	c.2501C>T	c.(2500-2502)CCT>CTT	p.P834L	PPRC1_uc001kun.2_Missense_Mutation_p.P714L|PPRC1_uc010qqj.1_Missense_Mutation_p.P834L|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	834	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCTGAGCCACCTGTAAGCAAA	0.582													T	103900766	C	T	103900766	3	4	27	1	0	0	0	0	1	0	0	0	12410	681	24	4	2519	4	PPRC1	10	103900766	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	74942	103900766	31633981	4919	28870											
PPRC1	23082	broad.mit.edu	37	chr10	103908403	103908403	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtacagctcttatcgttcAcatgaccattaccaaaggca	7	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:103908403A>G	uc001kum.2	+	11	4608	c.4569A>G	c.(4567-4569)TCA>TCG	p.S1523S	PPRC1_uc001kun.2_Silent_p.S1401S|PPRC1_uc010qqj.1_Silent_p.S1259S|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	1523	Arg-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CTTATCGTTCACATGACCATT	0.488													G	103908403	A	G	103908403	2	3	27	1	0	0	0	0	0	0	0	1	12410	146	6	3		3	PPRC1	10	103908403	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	7637	103908403	31626344	4920	28871											
PPRC1	23082	broad.mit.edu	37	chr10	103908641	103908641	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgatcagagctgaaacagaGgttctccgtttttggagaga	12	7	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:103908641G>T	uc001kum.2	+	12	4724	c.4685G>T	c.(4684-4686)AGG>ATG	p.R1562M	PPRC1_uc001kun.2_Missense_Mutation_p.R1440M|PPRC1_uc010qqj.1_Missense_Mutation_p.R1298M|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	1562	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CTGAAACAGAGGTTCTCCGTT	0.468													T	103908641	G	T	103908641	3	4	27	1	0	0	0	0	1	0	0	0	12410	1000	35	5	4731	5	PPRC1	10	103908641	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	238	103908641	31626106	4921	28872											
NOLC1	9221	broad.mit.edu	37	chr10	103918966	103918966	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcgagcagcacctaaAatagccaatggtaaagcagc	9	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:103918966A>G	uc001kuo.2	+	6	859	c.624A>G	c.(622-624)AAA>AAG	p.K208K	NOLC1_uc001kup.2_Silent_p.K208K|NOLC1_uc001kuq.2_Silent_p.K209K|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_5'UTR	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	208	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CAGCACCTAAAATAGCCAATG	0.378													G	103918966	A	G	103918966	2	3	27	1	0	0	0	0	0	0	0	1	10529	11	1	3		3	NOLC1	10	103918966	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	10325	103918966	31615781	4922	28873											
NOLC1	9221	broad.mit.edu	37	chr10	103920746	103920746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaccacaagcccccaaggCcaatggcacctctgcactga	8	16	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:103920746C>T	uc001kuo.2	+	10	1872	c.1637C>T	c.(1636-1638)GCC>GTC	p.A546V	NOLC1_uc001kup.2_Missense_Mutation_p.A556V|NOLC1_uc001kuq.2_Missense_Mutation_p.A547V|NOLC1_uc009xxb.1_Missense_Mutation_p.A265V|NOLC1_uc001kur.2_Missense_Mutation_p.A265V	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	546	Nuclear localization signal (Potential).|11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GCCCCCAAGGCCAATGGCACC	0.512													T	103920746	C	T	103920746	3	4	27	1	0	0	0	0	1	0	0	0	10529	739	26	2	1675	2	NOLC1	10	103920746	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1780	103920746	31614001	4923	28874											
ELOVL3	83401	broad.mit.edu	37	chr10	103988776	103988776	+	Frame_Shift_Del	DEL	C	C	-													tgaaggctgccaacgtgaagCcccccaagatgctgcccatg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:103988775_103988775GC>G	uc001kut.3	+	3	742	c.579_579GC>G	c.(577-579)aagfs	p.K193fs		NM_152310	NP_689523	Q9HB03	ELOV3_HUMAN	Homo sapiens ELOVL fatty acid elongase 3 (ELOVL3), mRNA.	193					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CCAACGTGAAGCCCCCCAAGA	0.527													-	103988776	C	-	103988776	7	5	27	1	0	1	0	1	0	0	0	0	5075	739	26	0	594	0	ELOVL3	10	103988776	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	68030	103988776	31545971	4924	28875											
GBF1	8729	broad.mit.edu	37	chr10	104118448	104118448	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacagctacagagcctggaAgcagtgagctaggtgttccc	13	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:104118448A>G	uc001kux.1	+	10	1213	c.973A>G	c.(973-975)AGC>GGC	p.S325G	GBF1_uc001kuw.2_Missense_Mutation_p.S325G|GBF1_uc001kuy.1_Missense_Mutation_p.S325G|GBF1_uc001kuz.1_Missense_Mutation_p.S325G	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	325					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AGAGCCTGGAAGCAGTGAGCT	0.512													G	104118448	A	G	104118448	3	3	27	1	0	0	0	0	1	0	0	0	6271	72	3	3	1007	3	GBF1	10	104118448	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	129672	104118448	31416299	4925	28876											
NFKB2	4791	broad.mit.edu	37	chr10	104157155	104157155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggctccgctctaggccccaGggccttacgggtatgggtgc	15	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:104157155G>T	uc001kvb.2	+	7	757	c.492G>T	c.(490-492)CAG>CAT	p.Q164H	NFKB2_uc001kva.2_Missense_Mutation_p.Q164H|NFKB2_uc010qqk.1_Missense_Mutation_p.Q164H|NFKB2_uc001kvd.2_Missense_Mutation_p.Q164H|NFKB2_uc009xxc.2_Missense_Mutation_p.Q164H	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene	164	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(3)	3		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		CTAGGCCCCAGGGCCTTACGG	0.582			T	IGH@	B-NHL								T	104157155	G	T	104157155	3	4	27	1	0	0	0	0	1	0	0	0	10376	991	35	5	514	5	NFKB2	10	104157155	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	38707	104157155	31377592	4926	28877											
ACTR1A	10121	broad.mit.edu	37	chr10	104247992	104247992	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaatccttgacgatgccaTgctccatgggatagcggatt	10	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:104247992T>C	uc001kvv.2	-	4	338	c.230A>G	c.(229-231)CAT>CGT	p.H77R	ACTR1A_uc010qqn.1_Missense_Mutation_p.H3R|ACTR1A_uc010qqo.1_Missense_Mutation_p.H30R	NM_005736	NP_005727	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A,	77					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)	1		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GACGATGCCATGCTCCATGGG	0.527													C	104247992	T	C	104247992	3	2	27	1	0	0	0	0	1	0	0	0	209	1464	51	3	932	3	ACTR1A	10	104247992	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	90837	104247992	31286755	4927	28878											
ARL3	403	broad.mit.edu	37	chr10	104445597	104445597	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgccctctcctgtgagagcTgagcaagactggatctgcca	11	13	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:104445597T>C	uc001kwa.2	-	5	635	c.477A>G	c.(475-477)TCA>TCG	p.S159S		NM_004311	NP_004302	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	159	GTP (By similarity).				cell cycle|cytokinesis|small GTPase mediated signal transduction	centrosome|cytoplasmic microtubule|Golgi membrane|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule	GDP binding|GTP binding|metal ion binding|microtubule binding				0		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		CTGTGAGAGCTGAGCAAGACT	0.547													C	104445597	T	C	104445597	2	2	27	1	0	0	0	0	0	0	0	1	935	1567	55	3		3	ARL3	10	104445597	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	197605	104445597	31089150	4928	28879											
C10orf26	54838	broad.mit.edu	37	chr10	104557771	104557771	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaggaagcctgtgtgggtAccaacaatcaaagctacatc	9	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:104557771A>G	uc001kwe.3	+	2	309	c.49A>G	c.(49-51)ACC>GCC	p.T17A	C10orf26_uc001kwf.3_Missense_Mutation_p.T38A|C10orf26_uc009xxg.1_RNA	NM_017787	NP_060257	Q9NX94	OPA1L_HUMAN	hypothetical protein LOC54838 isoform 2	17						integral to membrane				central_nervous_system(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;6.14e-09)|all cancers(201;1.66e-07)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CTGTGTGGGTACCAACAATCA	0.418													G	104557771	A	G	104557771	3	3	27	1	0	0	0	0	1	0	0	0	1599	391	14	3	149	3	C10orf26	10	104557771	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	112174	104557771	30976976	4929	28880											
AS3MT	57412	broad.mit.edu	37	chr10	104622686	104622686	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatctgttgaaatagaatgAcatgtaagagtgctgtagga	11	4	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:104622686A>G	uc001kwj.2	+	5	403	c.4A>G	c.(4-6)ACA>GCA	p.T2A	C10orf32_uc001kwh.2_3'UTR|C10orf32_uc001kwi.2_3'UTR	NM_020682	NP_065733	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	Error:Variant_position_missing_in_Q9HBK9_after_alignment					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		AAATAGAATGACATGTAAGAG	0.393													G	104622686	A	G	104622686	3	3	27	1	0	0	0	0	1	0	0	0	1005	290	10	3		3	AS3MT	10	104622686	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	64915	104622686	30912061	4930	28881											
CNNM2	54805	broad.mit.edu	37	chr10	104679501	104679501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagatgctccgggtcaccGatccctacaacgacctcgtt	10	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:104679501G>A	uc001kwm.2	+	1	1388	c.1264G>A	c.(1264-1266)GAT>AAT	p.D422N	CNNM2_uc001kwn.2_Missense_Mutation_p.D422N|CNNM2_uc001kwl.2_Missense_Mutation_p.D422N	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	422	DUF21.				ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCGGGTCACCGATCCCTACAA	0.607													A	104679501	G	A	104679501	3	1	27	1	0	0	0	0	1	0	0	0	3613	1058	37	1	1266	1	CNNM2	10	104679501	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	56815	104679501	30855246	4931	28882											
CNNM2	54805	broad.mit.edu	37	chr10	104836918	104836918	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaggccaaccacagcctgcAcaacgaaggcgccatctagg	10	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:104836918A>G	uc001kwm.2	+	8	2733	c.2609A>G	c.(2608-2610)CAC>CGC	p.H870R	CNNM2_uc001kwn.2_Missense_Mutation_p.H848R	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	870					ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CACAGCCTGCACAACGAAGGC	0.642													G	104836918	A	G	104836918	3	3	27	1	0	0	0	0	1	0	0	0	3613	159	6	3	2681	3	CNNM2	10	104836918	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	157417	104836918	30697829	4932	28883											
INA	9118	broad.mit.edu	37	chr10	105037837	105037837	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaatggtacaagtccaAgtttgccaacctgaacgagc	11	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:105037837A>C	uc001kws.2	+	1	918	c.869A>C	c.(868-870)AAG>ACG	p.K290T	uc001kwr.2_5'Flank|INA_uc009xxj.2_Missense_Mutation_p.K290T	NM_032727	NP_116116	Q16352	AINX_HUMAN	internexin neuronal intermediate filament	290	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			ovary(1)|breast(1)	2				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TACAAGTCCAAGTTTGCCAAC	0.647													C	105037837	A	C	105037837	3	2	27	1	0	0	0	0	1	0	0	0	7730	72	3	5	871	5	INA	10	105037837	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	200919	105037837	30496910	4933	28884											
PDCD11	22984	broad.mit.edu	37	chr10	105185263	105185263	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccgagtgattggcgggCgagacatgaagacattcaag	14	9	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:105185263C>T	uc001kwy.1	+	20	3373	c.3286C>T	c.(3286-3288)CGA>TGA	p.R1096*		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1096	S1 motif 9.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GATTGGCGGGCGAGACATGAA	0.547													T	105185263	C	T	105185263	4	4	27	1	0	0	0	0	0	1	0	0	11617	760	27	1	3360	1	PDCD11	10	105185263	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	147426	105185263	30349484	4934	28885											
PDCD11	22984	broad.mit.edu	37	chr10	105203692	105203692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagctggtgaactctacaaCcggatgctgaagcgtttccg	12	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:105203692C>T	uc001kwy.1	+	34	5232	c.5145C>T	c.(5143-5145)AAC>AAT	p.N1715N		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1715	HAT 2.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AACTCTACAACCGGATGCTGA	0.567													T	105203692	C	T	105203692	2	4	27	1	0	0	0	0	0	0	0	1	11617	506	18	4		4	PDCD11	10	105203692	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	18429	105203692	30331055	4935	28886											
OBFC1	79991	broad.mit.edu	37	chr10	105677279	105677279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtagagttttgcaaagGctagaaacacaggatccaaa	10	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:105677279G>A	uc001kxl.2	-	1	149	c.74C>T	c.(73-75)GCC>GTC	p.A25V	OBFC1_uc001kxm.2_Missense_Mutation_p.A25V|OBFC1_uc001kxn.2_RNA	NM_024928	NP_079204	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold	25					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			ovary(1)	1		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TTTTGCAAAGGCTAGAAACAC	0.577													A	105677279	G	A	105677279	3	1	27	1	0	0	0	0	1	0	0	0	10807	1203	42	2	1068	2	OBFC1	10	105677279	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	473587	105677279	29857468	4936	28887											
SLK	9748	broad.mit.edu	37	chr10	105761204	105761204	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttttaatgatcaacagcaTccctttgttactgttgattc	5	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:105761204T>C	uc001kxo.1	+	8	901	c.867T>C	c.(865-867)CAT>CAC	p.H289H	SLK_uc001kxp.1_Silent_p.H289H	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	289	Protein kinase.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATCAACAGCATCCCTTTGTTA	0.254													C	105761204	T	C	105761204	2	2	27	1	0	0	0	0	0	0	0	1	14748	1432	50	3		3	SLK	10	105761204	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	83925	105761204	29773543	4937	28888											
COL17A1	1308	broad.mit.edu	37	chr10	105799267	105799267	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaaggttgagtccgaaAgaactggaccctggaagcca	12	11	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:105799267A>C	uc001kxr.2	-	43	3001	c.2832T>G	c.(2830-2832)TCT>TCG	p.S944S		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	944	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGAGTCCGAAAGAACTGGACC	0.597													C	105799267	A	C	105799267	2	2	27	1	0	0	0	0	0	0	0	1	3674	59	3	5		5	COL17A1	10	105799267	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	38063	105799267	29735480	4938	28889											
COL17A1	1308	broad.mit.edu	37	chr10	105815736	105815736	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctccagctcatccacacgCgccttcagcttcctcacctc	4	21	4	0	rs143263539		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:105815736C>T	uc001kxr.2	-	18	1660	c.1491G>A	c.(1489-1491)GCG>GCA	p.A497A	COL17A1_uc010qqv.1_Silent_p.A481A	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	497	Extracellular (Potential).|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CATCCACACGCGCCTTCAGCT	0.592													T	105815736	C	T	105815736	2	4	27	1	0	0	0	0	0	0	0	1	3674	755	27	1		1	COL17A1	10	105815736	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	16469	105815736	29719011	4939	28890											
COL17A1	1308	broad.mit.edu	37	chr10	105817937	105817937	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttgccctttgtggacacagTcttcaggtctcctgaaagga	10	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:105817937T>A	uc001kxr.2	-	16	1403	c.1234A>T	c.(1234-1236)ACT>TCT	p.T412S	COL17A1_uc010qqv.1_Missense_Mutation_p.T396S	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	412	Cytoplasmic (Potential).|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GTGGACACAGTCTTCAGGTCT	0.418													A	105817937	T	A	105817937	3	1	27	1	0	0	0	0	1	0	0	0	3674	1667	58	5	3423	5	COL17A1	10	105817937	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2201	105817937	29716810	4940	28891											
C10orf79	80217	broad.mit.edu	37	chr10	105920858	105920858	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcataatctttgaattgTtttctttcttcttcagtcca	3	9	6	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:105920858T>C	uc001kxw.2	-	27	3593	c.3477A>G	c.(3475-3477)AAA>AAG	p.K1159K	C10orf79_uc009xxq.2_Silent_p.K467K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	1159	Potential.										0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		CTTTGAATTGTTTTCTTTCTT	0.328													C	105920858	T	C	105920858	2	2	27	1	0	0	0	0	0	0	0	1	1618	1722	60	3		3	C10orf79	10	105920858	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	102921	105920858	29613889	4941	28892											
SORCS3	22986	broad.mit.edu	37	chr10	106602578	106602578	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcctgacgaagctgtatgActtcaacctgggcagcgtga	11	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:106602578A>G	uc001kyi.1	+	2	883	c.656A>G	c.(655-657)GAC>GGC	p.D219G		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	219	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AAGCTGTATGACTTCAACCTG	0.483													G	106602578	A	G	106602578	3	3	27	1	0	0	0	0	1	0	0	0	14932	275	10	3	662	3	SORCS3	10	106602578	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	681720	106602578	28932169	4942	28893											
XPNPEP1	7511	broad.mit.edu	37	chr10	111642211	111642211	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggggatggtctcgctcacAgcatagctggccttgtcact	12	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:111642211A>G	uc001kyp.1	-	10	1031	c.891T>C	c.(889-891)GCT>GCC	p.A297A	XPNPEP1_uc009xxt.1_Silent_p.A340A|XPNPEP1_uc001kyq.1_Silent_p.A226A|XPNPEP1_uc010qrb.1_Silent_p.A340A|XPNPEP1_uc010qra.1_Silent_p.A64A	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1,	297					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			ovary(3)|pancreas(1)	4		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TCTCGCTCACAGCATAGCTGG	0.572													G	111642211	A	G	111642211	2	3	27	1	0	0	0	0	0	0	0	1	17439	175	7	3		3	XPNPEP1	10	111642211	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	5039633	111642211	23892536	4943	28894											
ADD3	120	broad.mit.edu	37	chr10	111876060	111876060	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatgaccttcctggtgcagaTacatcctcatatgtgaaggg	10	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:111876060T>A	uc001kyt.3	+	5	692	c.378T>A	c.(376-378)GAT>GAA	p.D126E	ADD3_uc001kys.3_Missense_Mutation_p.D126E|ADD3_uc001kyu.2_Missense_Mutation_p.D126E|ADD3_uc001kyv.2_Missense_Mutation_p.D126E|ADD3_uc001kyw.2_Missense_Mutation_p.D126E	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	126						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		CTGGTGCAGATACATCCTCAT	0.448													A	111876060	T	A	111876060	3	1	27	1	0	0	0	0	1	0	0	0	306	1403	49	5	388	5	ADD3	10	111876060	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	233849	111876060	23658687	4944	28895											
ADD3	120	broad.mit.edu	37	chr10	111879279	111879279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagaaacattagaggaggCttttcattatatttttaatg	9	3	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:111879279C>T	uc001kyt.3	+	9	1231	c.917C>T	c.(916-918)GCT>GTT	p.A306V	ADD3_uc001kys.3_Missense_Mutation_p.A306V|ADD3_uc001kyu.2_Missense_Mutation_p.A306V|ADD3_uc001kyv.2_Missense_Mutation_p.A306V|ADD3_uc001kyw.2_Missense_Mutation_p.A306V	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	306						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TTAGAGGAGGCTTTTCATTAT	0.378													T	111879279	C	T	111879279	3	4	27	1	0	0	0	0	1	0	0	0	306	797	28	2	943	2	ADD3	10	111879279	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3219	111879279	23655468	4945	28896											
SMNDC1	10285	broad.mit.edu	37	chr10	112053968	112053968	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgatattgtgtcataggTttatcagcaattccacaggt	8	7	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:112053968T>G	uc001kzc.3	-	6	859	c.657A>C	c.(655-657)AAA>AAC	p.K219N	SMNDC1_uc001kzb.2_Missense_Mutation_p.K140N	NM_005871	NP_005862	O75940	SPF30_HUMAN	survival motor neuron domain containing 1	219					apoptosis|induction of apoptosis|mRNA processing|RNA splicing, via transesterification reactions	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding|RNA binding			skin(1)	1		Breast(234;0.174)		Epithelial(162;6.86e-05)|all cancers(201;0.00149)|BRCA - Breast invasive adenocarcinoma(275;0.119)		GTGTCATAGGTTTATCAGCAA	0.383													G	112053968	T	G	112053968	3	3	27	1	0	0	0	0	1	0	0	0	14799	1722	60	5	63	5	SMNDC1	10	112053968	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	174689	112053968	23480779	4946	28897											
DUSP5	1847	broad.mit.edu	37	chr10	112266745	112266745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggaagtgcctaccatgCatccaagtgcgagttcctcg	10	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:112266745C>T	uc001kzd.2	+	3	836	c.581C>T	c.(580-582)GCA>GTA	p.A194V		NM_004419	NP_004410	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	194	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GCCTACCATGCATCCAAGTGC	0.542													T	112266745	C	T	112266745	3	4	27	1	0	0	0	0	1	0	0	0	4828	710	25	2	591	2	DUSP5	10	112266745	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	212777	112266745	23268002	4947	28898											
SMC3	9126	broad.mit.edu	37	chr10	112349459	112349459	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaaagatgaactacaaagtGaaagaaagttagtatagact	9	3	0	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:112349459G>T	uc001kze.2	+	14	1528	c.1402G>T	c.(1402-1404)GAA>TAA	p.E468*		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	468	Potential.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ACTACAAAGTGAAAGAAAGTT	0.333													T	112349459	G	T	112349459	4	4	27	1	0	0	0	0	0	1	0	0	14784	1291	45	5	1456	5	SMC3	10	112349459	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	82714	112349459	23185288	4948	28899											
SMC3	9126	broad.mit.edu	37	chr10	112357915	112357915	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggattaataatgaaattgAtcagttgatgaaccaaatgc	8	4	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:112357915A>G	uc001kze.2	+	20	2261	c.2135A>G	c.(2134-2136)GAT>GGT	p.D712G		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	712	Potential.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AATGAAATTGATCAGTTGATG	0.318													G	112357915	A	G	112357915	3	3	27	1	0	0	0	0	1	0	0	0	14784	333	12	3	2213	3	SMC3	10	112357915	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	8456	112357915	23176832	4949	28900											
SHOC2	8036	broad.mit.edu	37	chr10	112769025	112769025	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggttcttatcttatcaaacaAtcttctaaagaagcttcccc	4	11	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:112769025A>T	uc001kzl.3	+	7	1653	c.1304A>T	c.(1303-1305)AAT>ATT	p.N435I	SHOC2_uc009xxx.2_Missense_Mutation_p.N435I|SHOC2_uc010qrg.1_Missense_Mutation_p.N74I|SHOC2_uc001kzn.2_Missense_Mutation_p.N389I	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog	435	LRR 15.				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			ovary(1)|skin(1)	2				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		TTATCAAACAATCTTCTAAAG	0.313													T	112769025	A	T	112769025	3	4	27	1	0	0	0	0	1	0	0	0	14287	101	4	5	1326	5	SHOC2	10	112769025	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	411110	112769025	22765722	4950	28901											
NRAP	4892	broad.mit.edu	37	chr10	115348832	115348832	+	Frame_Shift_Del	DEL	C	C	-													tccagcctccactgcttctgCcccccgctgctgaaatcaaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:115348831_115348831GC>G	uc001lal.3	-	41	5263	c.5099_5099GC>C	c.(5098-5100)gcafs	p.A1700fs	HABP2_uc021pyr.1_3'UTR|HABP2_uc001lai.4_3'UTR|NRAP_uc009xyb.3_Frame_Shift_Del_p.A452fs|NRAP_uc001laj.3_Frame_Shift_Del_p.A1699fs|NRAP_uc001lak.3_Frame_Shift_Del_p.A1664fs	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1699						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CACTGCTTCTGCCCCCCGCTG	0.572													-	115348832	C	-	115348832	7	5	27	1	0	1	0	1	0	0	0	0	10638	739	26	0	101	0	NRAP	10	115348832	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	2579807	115348832	20185915	4951	28902											
NRAP	4892	broad.mit.edu	37	chr10	115375543	115375543	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagtcggtgtgtaatgatgCtttatgttttctccttgttc	10	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:115375543C>A	uc001laj.2	-	27	3170	c.3006G>T	c.(3004-3006)AAG>AAT	p.K1002N	NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.K967N|NRAP_uc001lal.3_Missense_Mutation_p.K1002N	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1002	Nebulin 25.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGTAATGATGCTTTATGTTTT	0.502													A	115375543	C	A	115375543	3	1	27	1	0	0	0	0	1	0	0	0	10638	796	28	5	2250	5	NRAP	10	115375543	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	26711	115375543	20159204	4952	28903											
NRAP	4892	broad.mit.edu	37	chr10	115411615	115411615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcagctcaggagtatccaCcaccgtggagaacctggaga	12	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:115411615C>T	uc001laj.2	-	7	786	c.622G>A	c.(622-624)GTG>ATG	p.V208M	NRAP_uc001lak.2_Missense_Mutation_p.V208M|NRAP_uc001lal.3_Missense_Mutation_p.V208M	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	208	Nebulin 4.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGAGTATCCACCACCGTGGAG	0.463													T	115411615	C	T	115411615	3	4	27	1	0	0	0	0	1	0	0	0	10638	507	18	4	4714	4	NRAP	10	115411615	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	36072	115411615	20123132	4953	28904											
DCLRE1A	9937	broad.mit.edu	37	chr10	115602116	115602117	+	Frame_Shift_Ins	INS	-	-	T													ctcacctaggaagactttctINScttttccaatagagtaagtg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:115602115_115602116C>CT	uc001law.2	-	5	3569_3570	c.2651_2652G>AG	c.(2650-2652)gagfs	p.E884fs		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	Homo sapiens DNA cross-link repair 1A (DCLRE1A), mRNA.	884					cell division|mitosis	nucleus	hydrolase activity	p.E884*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GGAAGACTTTCTCTTTTCCAAT	0.386								Other identified genes with known or suspected DNA repair function					T	115602117	-	T	115602116	7	5	27	1	0	1	1	0	0	0	0	0	4294	1551	54	0	487	0	DCLRE1A	10	115602116	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	190501	115602116	19932631	4954	28905											
NHLRC2	374354	broad.mit.edu	37	chr10	115639443	115639443	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcagacactgaaaaccacCttataagaaaggtaattttc	7	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:115639443C>A	uc001lax.1	+	4	1110	c.898C>A	c.(898-900)CTT>ATT	p.L300I		NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	300	NHL 2.				cell redox homeostasis					ovary(1)	1				Epithelial(162;0.017)|all cancers(201;0.0187)		TGAAAACCACCTTATAAGAAA	0.279													A	115639443	C	A	115639443	3	1	27	1	0	0	0	0	1	0	0	0	10406	681	24	5	912	5	NHLRC2	10	115639443	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	37327	115639443	19895304	4955	28906											
ADRB1	153	broad.mit.edu	37	chr10	115804281	115804281	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgggagtacggctccttcttCtgcgagctgtggacctcagt	13	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:115804281C>A	uc001lba.2	+	1	476	c.390C>A	c.(388-390)TTC>TTA	p.F130L		NM_000684	NP_000675	P08588	ADRB1_HUMAN	beta-1-adrenergic receptor	130	Extracellular (By similarity).				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	GCTCCTTCTTCTGCGAGCTGT	0.662													A	115804281	C	A	115804281	3	1	27	1	0	0	0	0	1	0	0	0	340	912	32	5	392	5	ADRB1	10	115804281	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	164838	115804281	19730466	4956	28907											
VWA2	340706	broad.mit.edu	37	chr10	116038533	116038533	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctggagatggtccgggaGttcgctggcaatgccccatg	15	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:116038533G>A	uc001lbl.1	+	8	1077	c.756G>A	c.(754-756)GAG>GAA	p.E252E	VWA2_uc001lbk.1_Silent_p.E252E|VWA2_uc009xyf.1_5'UTR	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	252						extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)		TGGTCCGGGAGTTCGCTGGCA	0.637													A	116038533	G	A	116038533	2	1	27	1	0	0	0	0	0	0	0	1	17236	1020	36	4		4	VWA2	10	116038533	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	234252	116038533	19496214	4957	28908											
VWA2	340706	broad.mit.edu	37	chr10	116046101	116046101	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcgggcccagcgcgtcaCgcaagggcgcgagagctgct	17	13	1	1	rs145894848		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:116046101C>T	uc001lbl.1	+	11	1722	c.1401C>T	c.(1399-1401)CAC>CAT	p.H467H	VWA2_uc001lbk.1_Silent_p.H467H|VWA2_uc009xyf.1_Silent_p.H163H	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	467	VWFA 2.					extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)		CAGCGCGTCACGCAAGGGCGC	0.642													T	116046101	C	T	116046101	2	4	27	1	0	0	0	0	0	0	0	1	17236	535	19	1		1	VWA2	10	116046101	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	7568	116046101	19488646	4958	28909											
VWA2	340706	broad.mit.edu	37	chr10	116049204	116049204	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtggcagcttacgccgAcctgcggtaccaccaggacg	12	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:116049204A>G	uc001lbl.1	+	12	2399	c.2078A>G	c.(2077-2079)GAC>GGC	p.D693G	VWA2_uc001lbk.1_Missense_Mutation_p.D693G|VWA2_uc009xyf.1_Missense_Mutation_p.D389G	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	693	VWFA 3.					extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)		GCTTACGCCGACCTGCGGTAC	0.642													G	116049204	A	G	116049204	3	3	27	1	0	0	0	0	1	0	0	0	17236	275	10	3	2120	3	VWA2	10	116049204	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3103	116049204	19485543	4959	28910											
FAM160B1	57700	broad.mit.edu	37	chr10	116595304	116595304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctatacccagtgtcctccGggaatgaaacagcaggtttt	9	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:116595304G>A	uc001lcb.2	+	4	638	c.303G>A	c.(301-303)CCG>CCA	p.P101P	FAM160B1_uc001lcc.2_Silent_p.P101P	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	101										lung(1)	1						AGTGTCCTCCGGGAATGAAAC	0.423													A	116595304	G	A	116595304	2	1	27	1	0	0	0	0	0	0	0	1	5470	1103	39	1		1	FAM160B1	10	116595304	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	546100	116595304	18939443	4960	28911											
FAM160B1	57700	broad.mit.edu	37	chr10	116608429	116608429	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctgtctggtaccggatgAcgcaaaatcctcctaccatg	8	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:116608429A>G	uc001lcb.2	+	13	2071	c.1736A>G	c.(1735-1737)GAC>GGC	p.D579G	FAM160B1_uc001lcc.2_Missense_Mutation_p.D579G	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	579										lung(1)	1						GTACCGGATGACGCAAAATCC	0.403													G	116608429	A	G	116608429	3	3	27	1	0	0	0	0	1	0	0	0	5470	275	10	3	1786	3	FAM160B1	10	116608429	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	13125	116608429	18926318	4961	28912											
ATRNL1	26033	broad.mit.edu	37	chr10	117154195	117154195	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catgcagtggccatgcaaatAtctgtcatctgcacacagga	9	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:117154195A>T	uc001lcg.2	+	20	3588	c.3202A>T	c.(3202-3204)ATC>TTC	p.I1068F	ATRNL1_uc010qsm.1_Missense_Mutation_p.I197F|ATRNL1_uc010qsn.1_RNA	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	1068	Laminin EGF-like 2.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCATGCAAATATCTGTCATCT	0.343													T	117154195	A	T	117154195	3	4	27	1	0	0	0	0	1	0	0	0	1207	449	16	5	3280	5	ATRNL1	10	117154195	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	545766	117154195	18380552	4962	28913											
PNLIPRP1	5407	broad.mit.edu	37	chr10	118368620	118368620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgctgctcaccctcacgCcctgctaagctcccggggcg	10	19	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:118368620C>T	uc001lco.1	+	13	1414	c.1396C>T	c.(1396-1398)CCC>TCC	p.P466S	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.P466S	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	466	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)		CACCCTCACGCCCTGCTAAGC	0.562													T	118368620	C	T	118368620	3	4	27	1	0	0	0	0	1	0	0	0	12150	739	26	2	1442	2	PNLIPRP1	10	118368620	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1214425	118368620	17166127	4963	28914											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118394418	118394418	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttactcaagcagcgtcctcaAccctgatggcttcctgggct	9	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:118394418A>G	uc001lcq.2	+	11	910	c.887A>G	c.(886-888)AAC>AGC	p.N296S	PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA	NM_005396	NP_005387	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2	295					galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			large_intestine(1)	1				all cancers(201;0.015)		AGCGTCCTCAACCCTGATGGC	0.517													G	118394418	A	G	118394418	3	3	27	1	0	0	0	0	1	0	0	0	12151	43	2	3	920	3	PNLIPRP2	10	118394418	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	25798	118394418	17140329	4964	28915											
HSPA12A	259217	broad.mit.edu	37	chr10	118439134	118439134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggcagccgcccttttgCgagactcaaacgcaatcatt	10	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:118439134C>T	uc001lct.2	-	10	1271	c.1166G>A	c.(1165-1167)CGC>CAC	p.R389H	HSPA12A_uc001lcu.2_Missense_Mutation_p.R306H	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	389							ATP binding			ovary(1)	1				all cancers(201;0.0158)		CGCCCTTTTGCGAGACTCAAA	0.463													T	118439134	C	T	118439134	3	4	27	1	0	0	0	0	1	0	0	0	7404	768	27	1	873	1	HSPA12A	10	118439134	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	44716	118439134	17095613	4965	28916											
HSPA12A	259217	broad.mit.edu	37	chr10	118460506	118460506	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtacagccactgcttgGcctcattgggatccaggtca	11	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:118460506G>T	uc001lct.2	-	4	494	c.389C>A	c.(388-390)GCC>GAC	p.A130D	HSPA12A_uc001lcu.2_Missense_Mutation_p.A47D	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	130							ATP binding			ovary(1)	1				all cancers(201;0.0158)		CCACTGCTTGGCCTCATTGGG	0.582													T	118460506	G	T	118460506	3	4	27	1	0	0	0	0	1	0	0	0	7404	1203	42	5	1674	5	HSPA12A	10	118460506	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	21372	118460506	17074241	4966	28917											
HSPA12A	259217	broad.mit.edu	37	chr10	118464750	118464750	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcgacggccaccaccacgaGaaatgactgctgttctgaga	11	12	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:118464750G>A	uc001lct.2	-	3	271	c.166C>T	c.(166-168)CTC>TTC	p.L56F	HSPA12A_uc001lcu.2_5'UTR	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	56							ATP binding			ovary(1)	1				all cancers(201;0.0158)		ACCACCACGAGAAATGACTGC	0.557													A	118464750	G	A	118464750	3	1	27	1	0	0	0	0	1	0	0	0	7404	942	33	4	1901	4	HSPA12A	10	118464750	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4244	118464750	17069997	4967	28918											
KIAA1598	57698	broad.mit.edu	37	chr10	118719729	118719729	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaattaacttcctctatgAccatgtgagaaactaggaat	7	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:118719729A>G	uc009xyw.2	-	4	683	c.185T>C	c.(184-186)GTC>GCC	p.V62A	KIAA1598_uc001lcz.3_Missense_Mutation_p.V62A|KIAA1598_uc010qso.1_Missense_Mutation_p.V2A|KIAA1598_uc010qsp.1_Missense_Mutation_p.V62A|KIAA1598_uc010qsq.1_Missense_Mutation_p.V2A|KIAA1598_uc001lcy.3_Missense_Mutation_p.V32A	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN	shootin1 isoform a	62	Potential.				axon guidance	axon					0				all cancers(201;0.00494)		TTCCTCTATGACCATGTGAGA	0.408													G	118719729	A	G	118719729	3	3	27	1	0	0	0	0	1	0	0	0	8246	275	10	3	1766	3	KIAA1598	10	118719729	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	254979	118719729	16815018	4968	28919											
KCNK18	338567	broad.mit.edu	37	chr10	118969029	118969029	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatggctacatctaccccgTcaccaggcttggcaagtact	8	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:118969029T>G	uc010qsr.1	+	3	374	c.374T>G	c.(373-375)GTC>GGC	p.V125G		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	125						integral to membrane|plasma membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;0.19)		all cancers(201;0.0211)		ATCTACCCCGTCACCAGGCTT	0.507													G	118969029	T	G	118969029	3	3	27	1	0	0	0	0	1	0	0	0	8065	1667	58	5	384	5	KCNK18	10	118969029	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	249300	118969029	16565718	4969	28920											
PDZD8	118987	broad.mit.edu	37	chr10	119042898	119042898	+	Frame_Shift_Del	DEL	T	T	-													atcatctgtgtacttgcttaTttttttggagtgctggtcta							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:119042897_119042897AT>A	uc001lde.1	-	4	3546	c.3347_3347AT>T	c.(3346-3348)atafs	p.I1116fs		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	1116					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GTACTTGCTTATTTTTTTGGA	0.373													-	119042898	T	-	119042898	7	5	27	1	0	1	0	1	0	0	0	0	11705	1493	52	0	122	0	PDZD8	10	119042898	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	73869	119042898	16491849	4970	28921											
RAB11FIP2	22841	broad.mit.edu	37	chr10	119799972	119799972	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtccttcattgataagTcaaacatacttgcggtcata	6	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:119799972T>C	uc001ldj.1	-	2	898	c.458A>G	c.(457-459)GAC>GGC	p.D153G	RAB11FIP2_uc009xyz.1_Missense_Mutation_p.D153G	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2	153					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity				0		Colorectal(252;0.235)		all cancers(201;0.0238)		CATTGATAAGTCAAACATACT	0.338													C	119799972	T	C	119799972	3	2	27	1	0	0	0	0	1	0	0	0	12894	1667	58	3	1096	3	RAB11FIP2	10	119799972	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	757074	119799972	15734775	4971	28922											
EIF3A	8661	broad.mit.edu	37	chr10	120810101	120810101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctatagtatgttatcctgCgttcttctttacgctgcctt	6	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:120810101C>T	uc001ldu.2	-	16	2551	c.2405G>A	c.(2404-2406)CGC>CAC	p.R802H	EIF3A_uc010qsu.1_Missense_Mutation_p.R768H|EIF3A_uc009xzg.1_5'Flank	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	802	Interaction with EIF3B.|Glu-rich.				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)		TGTTATCCTGCGTTCTTCTTT	0.418													T	120810101	C	T	120810101	3	4	27	1	0	0	0	0	1	0	0	0	5012	768	27	1	1771	1	EIF3A	10	120810101	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1010129	120810101	14724646	4972	28923											
EIF3A	8661	broad.mit.edu	37	chr10	120818859	120818859	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcttctcgagtagcataAttcaaatcagatccaaaact	5	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:120818859A>G	uc001ldu.2	-	11	1640	c.1494T>C	c.(1492-1494)AAT>AAC	p.N498N	EIF3A_uc010qsu.1_Silent_p.N464N	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	498					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)		GAGTAGCATAATTCAAATCAG	0.408													G	120818859	A	G	120818859	2	3	27	1	0	0	0	0	0	0	0	1	5012	98	4	3		3	EIF3A	10	120818859	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	8758	120818859	14715888	4973	28924											
INPP5F	22876	broad.mit.edu	37	chr10	121571462	121571462	+	Frame_Shift_Del	DEL	C	C	-													tgggccctcattgactgtgaCcctaggtgagttggagtggt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:121571461_121571461AC>A	uc001leo.3	+	14	2096	c.1880_1880AC>A	c.(1879-1881)gacfs	p.D627fs		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	627							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ATTGACTGTGACCCTAGGTGA	0.493													-	121571462	C	-	121571462	7	5	27	1	0	1	0	1	0	0	0	0	7758	506	18	0	1939	0	INPP5F	10	121571462	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	752603	121571462	13963285	4974	28925											
INPP5F	22876	broad.mit.edu	37	chr10	121582627	121582627	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaaagttctcctgcatgCgactgcactacagatacaaa	7	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:121582627C>T	uc001leo.2	+	18	2243	c.2077C>T	c.(2077-2079)CGA>TGA	p.R693*	INPP5F_uc001lep.2_Nonsense_Mutation_p.R83*	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	693							phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTCCTGCATGCGACTGCACTA	0.403													T	121582627	C	T	121582627	4	4	27	1	0	0	0	0	0	1	0	0	7758	760	27	1	2147	1	INPP5F	10	121582627	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	11165	121582627	13952120	4975	28926											
SEC23IP	11196	broad.mit.edu	37	chr10	121671606	121671606	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagatgaatggggcaccacGcaagatggacagacaaggcc	13	11	0	4	rs146017364		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:121671606G>A	uc001leu.1	+	6	1314	c.1242G>A	c.(1240-1242)ACG>ACA	p.T414T	SEC23IP_uc010qtc.1_Silent_p.T203T	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	414					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GGGGCACCACGCAAGATGGAC	0.438													A	121671606	G	A	121671606	2	1	27	1	0	0	0	0	0	0	0	1	13993	1074	38	1		1	SEC23IP	10	121671606	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	88979	121671606	13863141	4976	28927											
FGFR2	2263	broad.mit.edu	37	chr10	123247527	123247527	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtctttttgtaatagTctatattgttgatatctctg	9	4	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:123247527T>C	uc010qtk.1	-	15	2611	c.1964A>G	c.(1963-1965)GAC>GGC	p.D655G	FGFR2_uc010qtg.1_Missense_Mutation_p.D543G|FGFR2_uc010qth.1_Missense_Mutation_p.D540G|FGFR2_uc010qti.1_Missense_Mutation_p.D566G|FGFR2_uc010qtj.1_Missense_Mutation_p.D656G|FGFR2_uc010qtl.1_Missense_Mutation_p.D539G|FGFR2_uc010qtm.1_Missense_Mutation_p.D538G|FGFR2_uc001lfl.3_Missense_Mutation_p.D656G|FGFR2_uc001lfm.2_Missense_Mutation_p.D567G|FGFR2_uc001lfg.3_Missense_Mutation_p.D263G	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	655	Cytoplasmic (Potential).|Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TTTGTAATAGTCTATATTGTT	0.433		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				C	123247527	T	C	123247527	3	2	27	1	0	0	0	0	1	0	0	0	5866	1667	58	3	625	3	FGFR2	10	123247527	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1575921	123247527	12287220	4977	28928											
TACC2	10579	broad.mit.edu	37	chr10	123810012	123810012	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgggaacagtcagaatatAaaaaggaagcagcaggacac	11	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:123810012A>G	uc001lfv.2	+	3	453	c.93A>G	c.(91-93)ATA>ATG	p.I31M	TACC2_uc001lfw.2_Missense_Mutation_p.I31M|TACC2_uc009xzx.2_Missense_Mutation_p.I31M|TACC2_uc010qtv.1_Missense_Mutation_p.I31M	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	31						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTCAGAATATAAAAAGGAAGC	0.557													G	123810012	A	G	123810012	3	3	27	1	0	0	0	0	1	0	0	0	15499	352	13	3	99	3	TACC2	10	123810012	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	562485	123810012	11724735	4978	28929											
DMBT1	1755	broad.mit.edu	37	chr10	124345846	124345846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggagctgcccccacaatgGctggctctcccataactgtg	11	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:124345846G>A	uc001lgk.1	+	16	1836	c.1730G>A	c.(1729-1731)GGC>GAC	p.G577D	DMBT1_uc001lgl.1_Missense_Mutation_p.G567D|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.G577D|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	577	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCCCACAATGGCTGGCTCTCC	0.557													A	124345846	G	A	124345846	3	1	27	1	0	0	0	0	1	0	0	0	4577	1203	42	2	1792	2	DMBT1	10	124345846	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	535834	124345846	11188901	4979	28930											
DMBT1	1755	broad.mit.edu	37	chr10	124396722	124396722	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgggcttttctgccagtgAccttgtcatttccacctgga	9	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:124396722A>G	uc001lgk.1	+	51	6555	c.6449A>G	c.(6448-6450)GAC>GGC	p.D2150G	DMBT1_uc001lgl.1_Missense_Mutation_p.D2140G|DMBT1_uc001lgm.1_Missense_Mutation_p.D1522G|DMBT1_uc009xzz.1_Missense_Mutation_p.D2149G|DMBT1_uc010qtx.1_Missense_Mutation_p.D870G|DMBT1_uc009yab.1_Missense_Mutation_p.D853G|DMBT1_uc009yac.1_Missense_Mutation_p.D444G	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2150	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCTGCCAGTGACCTTGTCATT	0.512													G	124396722	A	G	124396722	3	3	27	1	0	0	0	0	1	0	0	0	4577	275	10	3	6651	3	DMBT1	10	124396722	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	50876	124396722	11138025	4980	28931											
CUZD1	50624	broad.mit.edu	37	chr10	124600722	124600723	+	Frame_Shift_Ins	INS	-	-	T													gaaaagataattctgatgctINStttgttttctggtctttcta							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:124600721_124600722C>CT	uc001lgs.3	-	3	1156_1157	c.205_206G>AG	c.(205-207)agcfs	p.S69fs	CUZD1_uc009yaf.3_Intron|CUZD1_uc001lgr.3_Intron|CUZD1_uc010qty.2_5'UTR|CUZD1_uc009yae.3_Intron|CUZD1_uc010qtz.2_Frame_Shift_Ins_p.S69fs	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	69	CUB 1.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		AATTCTGATGCTTTTGTTTTCT	0.455													T	124600723	-	T	124600722	7	5	27	1	0	1	1	0	0	0	0	0	4066	1609	56	0	1650	0	CUZD1	10	124600722	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	204000	124600722	10934025	4981	28932											
C10orf88	80007	broad.mit.edu	37	chr10	124712522	124712522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcatctttgttgttgtggTttctcttcaaaatcaccaga	6	8	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:124712522T>C	uc001lgw.2	-	2	416	c.191A>G	c.(190-192)AAC>AGC	p.N64S	C10orf88_uc001lgx.2_5'UTR	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	hypothetical protein LOC80007	64											0		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		GTTGTTGTGGTTTCTCTTCAA	0.373													C	124712522	T	C	124712522	3	2	27	1	0	0	0	0	1	0	0	0	1622	1725	60	3	1166	3	C10orf88	10	124712522	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	111800	124712522	10822225	4982	28933											
PSTK	118672	broad.mit.edu	37	chr10	124742347	124742347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgtctgtcccacccaaCaggactgaagccatgtggga	11	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:124742347C>T	uc001lgy.1	+	2	755	c.315C>T	c.(313-315)AAC>AAT	p.N105N		NM_153336	NP_699167	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	105							ATP binding|kinase activity			liver(1)	1		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		TCCCACCCAACAGGACTGAAG	0.438													T	124742347	C	T	124742347	2	4	27	1	0	0	0	0	0	0	0	1	12720	477	17	4		4	PSTK	10	124742347	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	29825	124742347	10792400	4983	28934											
IKZF5	64376	broad.mit.edu	37	chr10	124753312	124753312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcaatgttggttatgtTgccctcttgcaaaatgacag	8	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:124753312T>C	uc001lha.2	-	5	1543	c.1244A>G	c.(1243-1245)CAA>CGA	p.Q415R	IKZF5_uc001lgz.2_Missense_Mutation_p.Q253R	NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	zinc finger protein, subfamily 1A, 5	415	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		TTGGTTATGTTGCCCTCTTGC	0.313													C	124753312	T	C	124753312	3	2	27	1	0	0	0	0	1	0	0	0	7618	1812	63	3	19	3	IKZF5	10	124753312	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	10965	124753312	10781435	4984	28935											
IKZF5	64376	broad.mit.edu	37	chr10	124758027	124758027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctccctgaagagcctctgCttctttgtccccactaactg	6	16	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:124758027C>T	uc001lha.2	-	3	414	c.115G>A	c.(115-117)GCA>ACA	p.A39T		NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	zinc finger protein, subfamily 1A, 5	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		AGAGCCTCTGCTTCTTTGTCC	0.423													T	124758027	C	T	124758027	3	4	27	1	0	0	0	0	1	0	0	0	7618	797	28	2	1156	2	IKZF5	10	124758027	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4715	124758027	10776720	4985	28936											
HMX3	340784	broad.mit.edu	37	chr10	124897045	124897045	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggcggcggagctggAggcggccaacctgagccatg	18	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:124897045A>T	uc010quc.1	+	2	872	c.872A>T	c.(871-873)GAG>GTG	p.E291V		NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	291					cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity				0		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		GCGGAGCTGGAGGCGGCCAAC	0.577													T	124897045	A	T	124897045	3	4	27	1	0	0	0	0	1	0	0	0	7248	304	11	5	878	5	HMX3	10	124897045	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	139018	124897045	10637702	4986	28937											
ZRANB1	54764	broad.mit.edu	37	chr10	126662901	126662901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttctacaagctacctgggGcatctatgacaaggactcag	10	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:126662901G>A	uc001lic.2	+	5	1732	c.1361G>A	c.(1360-1362)GGC>GAC	p.G454D	ZRANB1_uc010qug.1_Missense_Mutation_p.G480D	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	454	OTU.|TRAF-binding.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GCTACCTGGGGCATCTATGAC	0.512													A	126662901	G	A	126662901	3	1	27	1	0	0	0	0	1	0	0	0	18219	1203	42	2	1379	2	ZRANB1	10	126662901	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1765856	126662901	8871846	4987	28938											
CTBP2	1488	broad.mit.edu	37	chr10	126683094	126683094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttcgttgagattgcagtGcaaggagacgcagtcgctct	13	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:126683094G>A	uc009yak.2	-	7	1011	c.724C>T	c.(724-726)CAC>TAC	p.H242Y	CTBP2_uc009yal.2_Missense_Mutation_p.H242Y|CTBP2_uc001lif.3_Missense_Mutation_p.H242Y|CTBP2_uc001lih.3_Missense_Mutation_p.H242Y|CTBP2_uc001lid.3_Missense_Mutation_p.H310Y|CTBP2_uc001lie.3_Missense_Mutation_p.H782Y	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	242					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		AGATTGCAGTGCAAGGAGACG	0.498													A	126683094	G	A	126683094	3	1	27	1	0	0	0	0	1	0	0	0	3998	1319	46	2	633	2	CTBP2	10	126683094	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	20193	126683094	8851653	4988	28939											
C10orf137	26098	broad.mit.edu	37	chr10	127422661	127422661	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggttgcttgcaacatgatgaTgaagaagaatcaaaataaga	10	4	1	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:127422661T>A	uc001liq.1	+	12	1699	c.1406T>A	c.(1405-1407)ATG>AAG	p.M469K	C10orf137_uc001lin.2_Missense_Mutation_p.M435K|C10orf137_uc001lio.1_Missense_Mutation_p.M435K|C10orf137_uc001lip.1_Missense_Mutation_p.M173K|C10orf137_uc001lir.2_5'Flank	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AACATGATGATGAAGAAGAAT	0.348													A	127422661	T	A	127422661	3	1	27	1	0	0	0	0	1	0	0	0	1594	1464	51	5	1346	5	C10orf137	10	127422661	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	739567	127422661	8112086	4989	28940											
MMP21	118856	broad.mit.edu	37	chr10	127460903	127460903	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtgaggcaagcccaggAcatggccaatttcatggacg	14	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:127460903A>C	uc001liu.2	-	4	863	c.863T>G	c.(862-864)GTC>GGC	p.V288G		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	matrix metalloproteinase 21 preproprotein	288					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CAAGCCCAGGACATGGCCAAT	0.557													C	127460903	A	C	127460903	3	2	27	1	0	0	0	0	1	0	0	0	9660	275	10	5	862	5	MMP21	10	127460903	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	38242	127460903	8073844	4990	28941											
FANK1	92565	broad.mit.edu	37	chr10	127685152	127685152	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgttcccaataagtttggCtttaccgctctgatggttgc	10	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:127685152C>T	uc001ljh.3	+	5	536	c.432C>T	c.(430-432)GGC>GGT	p.G144G	FANK1_uc009yan.2_Silent_p.G170G|FANK1_uc001lji.2_Silent_p.G138G	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains	144	ANK 2.					cytoplasm|nucleus				ovary(1)	1		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				ATAAGTTTGGCTTTACCGCTC	0.408													T	127685152	C	T	127685152	2	4	27	1	0	0	0	0	0	0	0	1	5672	784	28	2		2	FANK1	10	127685152	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	224249	127685152	7849595	4991	28942											
FANK1	92565	broad.mit.edu	37	chr10	127697837	127697837	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagtttttgacagacaggTtgggatgctctttctgccta	11	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:127697837T>C	uc001ljh.3	+	10	1076	c.972_splice	c.e10+2	p.Q324_splice	FANK1_uc009yan.2_Splice_Site_p.Q350_splice|FANK1_uc001lji.2_Missense_Mutation_p.V319A	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains							cytoplasm|nucleus				ovary(1)	1		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GACAGACAGGTTGGGATGCTC	0.398													C	127697837	T	C	127697837	5	2	27	1	0	0	0	0	0	0	1	0	5672	1739	60	3	1012	3	FANK1	10	127697837	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	12685	127697837	7836910	4992	28943											
ADAM12	8038	broad.mit.edu	37	chr10	127789653	127789653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccctacctgacaagctgcGcattgtcatgggatttgcga	10	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:127789653G>A	uc001ljk.2	-	9	1321	c.908C>T	c.(907-909)GCG>GTG	p.A303V	ADAM12_uc010qul.1_Missense_Mutation_p.A254V|ADAM12_uc001ljm.2_Missense_Mutation_p.A303V|ADAM12_uc001ljn.2_Missense_Mutation_p.A300V|ADAM12_uc001ljl.3_Missense_Mutation_p.A300V	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	303	Extracellular (Potential).|Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GACAAGCTGCGCATTGTCATG	0.507													A	127789653	G	A	127789653	3	1	27	1	0	0	0	0	1	0	0	0	236	1087	38	1	1989	1	ADAM12	10	127789653	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	91816	127789653	7745094	4993	28944											
DOCK1	1793	broad.mit.edu	37	chr10	128797654	128797654	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgctggtccagttcaggattAcctaaagacatagacagatt	9	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:128797654A>T	uc001ljt.2	+	9	868	c.804A>T	c.(802-804)TTA>TTT	p.L268F	DOCK1_uc010qun.1_Missense_Mutation_p.L268F	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	268					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GTTCAGGATTACCTAAAGACA	0.383													T	128797654	A	T	128797654	3	4	27	1	0	0	0	0	1	0	0	0	4684	388	14	5	838	5	DOCK1	10	128797654	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1008001	128797654	6737093	4994	28945											
DOCK1	1793	broad.mit.edu	37	chr10	128908583	128908583	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaactctactgcttgaTcgaaatcgtccacagtgacc	7	13	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:128908583T>C	uc001ljt.2	+	25	2589	c.2525T>C	c.(2524-2526)ATC>ACC	p.I842T	DOCK1_uc010qun.1_Missense_Mutation_p.I863T	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	842					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TACTGCTTGATCGAAATCGTC	0.413													C	128908583	T	C	128908583	3	2	27	1	0	0	0	0	1	0	0	0	4684	1435	50	3	2623	3	DOCK1	10	128908583	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	110929	128908583	6626164	4995	28946											
FAM196A	642938	broad.mit.edu	37	chr10	128974382	128974382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacgttggggatggacctgCgtgcgggcactgtcatgtat	16	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:128974382C>T	uc001lju.1	-	1	319	c.278G>A	c.(277-279)CGC>CAC	p.R93H	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.R93H|FAM196A_uc001ljv.1_Missense_Mutation_p.R93H|FAM196A_uc009yap.1_Missense_Mutation_p.R93H	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	93								p.R93C(1)		ovary(2)	2						GATGGACCTGCGTGCGGGCAC	0.617													T	128974382	C	T	128974382	3	4	27	1	0	0	0	0	1	0	0	0	5528	768	27	1	1173	1	FAM196A	10	128974382	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	65799	128974382	6560365	4996	28947											
MKI67	4288	broad.mit.edu	37	chr10	129901497	129901497	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggctctttgtcggtgtgCgtggtctcccctgaggtttg	14	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:129901497C>T	uc001lke.2	-	13	8802	c.8607G>A	c.(8605-8607)ACG>ACA	p.T2869T	MKI67_uc001lkf.2_Silent_p.T2509T|MKI67_uc009yav.1_Silent_p.T2444T|MKI67_uc009yaw.1_Silent_p.T2019T	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2869	16 X 122 AA approximate repeats.|16.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGTCGGTGTGCGTGGTCTCCC	0.542													T	129901497	C	T	129901497	2	4	27	1	0	0	0	0	0	0	0	1	9598	755	27	1		1	MKI67	10	129901497	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	927115	129901497	5633250	4997	28948											
MKI67	4288	broad.mit.edu	37	chr10	129905845	129905845	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacctcctggtactttatctGtgtgtgtggtttcccctgat	9	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:129905845G>C	uc001lke.2	-	13	4454	c.4259C>G	c.(4258-4260)ACA>AGA	p.T1420R	MKI67_uc001lkf.2_Missense_Mutation_p.T1060R|MKI67_uc009yav.1_Missense_Mutation_p.T995R|MKI67_uc009yaw.1_Missense_Mutation_p.T570R	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1420	16 X 122 AA approximate repeats.|4.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TACTTTATCTGTGTGTGTGGT	0.493													C	129905845	G	C	129905845	3	2	27	1	0	0	0	0	1	0	0	0	9598	1377	48	5	5523	5	MKI67	10	129905845	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4348	129905845	5628902	4998	28949											
MKI67	4288	broad.mit.edu	37	chr10	129907158	129907158	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtttggaggagattctgGccacgtgccgtgtctttcat	14	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:129907158G>A	uc001lke.2	-	13	3141	c.2946C>T	c.(2944-2946)GGC>GGT	p.G982G	MKI67_uc001lkf.2_Silent_p.G622G|MKI67_uc009yav.1_Silent_p.G557G|MKI67_uc009yaw.1_Silent_p.G132G	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	982					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGAGATTCTGGCCACGTGCCG	0.473													A	129907158	G	A	129907158	2	1	27	1	0	0	0	0	0	0	0	1	9598	1190	42	2		2	MKI67	10	129907158	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1313	129907158	5627589	4999	28950											
EBF3	253738	broad.mit.edu	37	chr10	131666125	131666125	+	Frame_Shift_Del	DEL	C	C	-													caattatgatgacggtggcaCcccccgtggtccagccttca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:131666124_131666124AC>A	uc021qav.1	-	8	866	c.765_765GT>T	c.(763-765)ggtfs	p.G255fs	EBF3_uc001lki.2_Frame_Shift_Del_p.G269fs	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	278					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGACGGTGGCACCCCCCGTGG	0.577													-	131666125	C	-	131666125	7	5	27	1	0	1	0	1	0	0	0	0	4882	507	18	0	881	0	EBF3	10	131666125	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	1758967	131666125	3868622	5000	28951											
EBF3	253738	broad.mit.edu	37	chr10	131761907	131761907	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccggtacgtacctctgggcGgccgtgttggcgtccaccac	14	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:131761907G>T	uc001lki.1	-	1	185	c.126C>A	c.(124-126)GCC>GCA	p.A42A	EBF3_uc010qur.1_Silent_p.A28A	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	42					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		ACCTCTGGGCGGCCGTGTTGG	0.473													T	131761907	G	T	131761907	2	4	27	1	0	0	0	0	0	0	0	1	4882	1103	39	5		5	EBF3	10	131761907	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	95782	131761907	3772840	5001	28952											
JAKMIP3	282973	broad.mit.edu	37	chr10	133955535	133955535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttggagggacgctggacGcagagcgagaagttaaggtc	18	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:133955535G>A	uc001lkx.3	+	10	1585	c.1585G>A	c.(1585-1587)GCA>ACA	p.A529T		NM_001105521	NP_001098991			Janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GACGCTGGACGCAGAGCGAGA	0.662													A	133955535	G	A	133955535	3	1	27	1	0	0	0	0	1	0	0	0	7942	1087	38	1	1623	1	JAKMIP3	10	133955535	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2193628	133955535	1579212	5002	28953											
DPYSL4	10570	broad.mit.edu	37	chr10	134017367	134017367	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctccggcccgcgcgtcCtgcccaggcaagatctccgt	13	18	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:134017367C>T	uc009ybb.2	+	13	1717	c.1563C>T	c.(1561-1563)TCC>TCT	p.S521S		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	521					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CCCGCGCGTCCTGCCCAGGCA	0.677													T	134017367	C	T	134017367	2	4	27	1	0	0	0	0	0	0	0	1	4749	668	24	4		4	DPYSL4	10	134017367	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	61832	134017367	1517380	5003	28954											
C10orf93	255352	broad.mit.edu	37	chr10	134755109	134755109	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcaccaggttttctgccgActtcggggcacacatctggg	11	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:134755109A>G	uc001llt.1	-	3	368	c.292T>C	c.(292-294)TCG>CCG	p.S98P	C10orf93_uc001llu.2_Missense_Mutation_p.S98P	NM_173572	NP_775843	Q5SR76	CJ093_HUMAN	hypothetical protein LOC255352	98	TPR 1.						binding			pancreas(1)	1		all_cancers(35;1.8e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Colorectal(31;0.119)|Glioma(114;0.172)|Melanoma(40;0.175)		Epithelial(32;4.28e-05)|OV - Ovarian serous cystadenocarcinoma(35;4.31e-05)|all cancers(32;5.02e-05)		TTTTCTGCCGACTTCGGGGCA	0.567													G	134755109	A	G	134755109	3	3	27	1	0	0	0	0	1	0	0	0	1625	275	10	3	953	3	C10orf93	10	134755109	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	737742	134755109	779638	5004	28955											
GPR123	84435	broad.mit.edu	37	chr10	134898389	134898389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaaggaatcgcacctgGggcagcaacagcagctcctg	15	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:134898389G>A	uc001llw.2	+	8	1451	c.1451G>A	c.(1450-1452)GGG>GAG	p.G484E				Q86SQ6	GP123_HUMAN	RecName: Full=Probable G-protein coupled receptor 123;	233	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		ATCGCACCTGGGGCAGCAACA	0.607													A	134898389	G	A	134898389	3	1	27	1	0	0	0	0	1	0	0	0	6637	1247	43	4		4	GPR123	10	134898389	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	143280	134898389	636358	5005	28956											
PAOX	196743	broad.mit.edu	37	chr10	135195135	135195135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggagaccggttcccggcGcaccatgtcatcgtcaccgt	12	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr10:135195135G>A	uc001lmv.2	+	3	920	c.840G>A	c.(838-840)GCG>GCA	p.A280A	PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Silent_p.A280A|PAOX_uc001lmy.2_Silent_p.A280A|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	polyamine oxidase isoform 1	418					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GGTTCCCGGCGCACCATGTCA	0.612													A	135195135	G	A	135195135	2	1	27	1	0	0	0	0	0	0	0	1	11423	1074	38	1		1	PAOX	10	135195135	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	296746	135195135	339612	5006	28957											
RIC8A	60626	broad.mit.edu	37	chr11	209303	209303	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcacgtttgatgatgcccaAcaggaggaccggaaggtggg	15	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:209303A>G	uc001log.2	+	2	442	c.117A>G	c.(115-117)CAA>CAG	p.Q39Q	BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001lof.2_Silent_p.Q39Q|RIC8A_uc001loh.2_Missense_Mutation_p.N3S	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	resistance to inhibitors of cholinesterase 8	39						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity				0		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATGATGCCCAACAGGAGGACC	0.627													G	209303	A	G	209303	2	3	27	1	0	0	0	0	0	0	0	1	13355	40	2	3		3	RIC8A	11	209303	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08		209303	134797213	5007	28958											
ATHL1	80162	broad.mit.edu	37	chr11	293611	293611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggagaggtggtgaagcagGcagacgtcgtgctcctggga	18	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:293611G>A	uc010qvu.1	+	10	1613	c.1498G>A	c.(1498-1500)GCA>ACA	p.A500T	ATHL1_uc001lor.3_Intron|ATHL1_uc001lou.3_Missense_Mutation_p.A75T|ATHL1_uc001lov.3_5'Flank	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1	500				EFDGYEPGEVVKQA -> KFQLRVPWEDFFRC (in Ref. 3; BAB15431).	carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(1)|skin(1)	3		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGTGAAGCAGGCAGACGTCGT	0.607													A	293611	G	A	293611	3	1	27	1	0	0	0	0	1	0	0	0	1104	1203	42	2	1532	2	ATHL1	11	293611	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	84308	293611	134712905	5008	28959											
PHRF1	57661	broad.mit.edu	37	chr11	582040	582040	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatggcacagacggagaagAcgagggggcgtctgaggagg	20	6	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:582040A>G	uc001lqe.2	+	3	304	c.173A>G	c.(172-174)GAC>GGC	p.D58G	PHRF1_uc010qwc.1_Missense_Mutation_p.D58G|PHRF1_uc010qwd.1_Missense_Mutation_p.D57G|PHRF1_uc010qwe.1_Missense_Mutation_p.D54G	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	58							RNA polymerase binding|zinc ion binding				0						GACGGAGAAGACGAGGGGGCG	0.592													G	582040	A	G	582040	3	3	27	1	0	0	0	0	1	0	0	0	11861	275	10	3	179	3	PHRF1	11	582040	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	288429	582040	134424476	5009	28960											
PHRF1	57661	broad.mit.edu	37	chr11	592628	592628	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgaggtgtgcggcaggAgcgaccgtgaggacaggctt	18	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:592628A>G	uc001lqe.2	+	6	705	c.574A>G	c.(574-576)AGC>GGC	p.S192G	PHRF1_uc010qwc.1_Missense_Mutation_p.S192G|PHRF1_uc010qwd.1_Missense_Mutation_p.S191G|PHRF1_uc010qwe.1_Missense_Mutation_p.S188G|PHRF1_uc009ybz.1_5'UTR	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	192	PHD-type.						RNA polymerase binding|zinc ion binding				0						GTGCGGCAGGAGCGACCGTGA	0.637													G	592628	A	G	592628	3	3	27	1	0	0	0	0	1	0	0	0	11861	304	11	3	592	3	PHRF1	11	592628	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	10588	592628	134413888	5010	28961											
PHRF1	57661	broad.mit.edu	37	chr11	598394	598394	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acacaccagggcgcctcgggTcttccctgctggatgaagcc	12	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:598394T>A	uc001lqe.2	+	9	1047	c.916T>A	c.(916-918)TCT>ACT	p.S306T	PHRF1_uc010qwc.1_Missense_Mutation_p.S306T|PHRF1_uc010qwd.1_Missense_Mutation_p.S305T|PHRF1_uc010qwe.1_Missense_Mutation_p.S302T|PHRF1_uc009ybz.1_Missense_Mutation_p.S97T	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	306	Arg-rich.						RNA polymerase binding|zinc ion binding				0						GCGCCTCGGGTCTTCCCTGCT	0.667													A	598394	T	A	598394	3	1	27	1	0	0	0	0	1	0	0	0	11861	1667	58	5	946	5	PHRF1	11	598394	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	5766	598394	134408122	5011	28962											
CDHR5	53841	broad.mit.edu	37	chr11	624878	624878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggtgaacagcaggggagGccacagcagggcccaagacc	15	14	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:624878G>A	uc001lqj.2	-	1	130	c.25C>T	c.(25-27)CCT>TCT	p.P9S	CDHR5_uc001lqk.2_Missense_Mutation_p.P9S|CDHR5_uc009ycc.2_5'UTR|CDHR5_uc009ycd.2_Missense_Mutation_p.P9S|CDHR5_uc001lql.2_Missense_Mutation_p.P9S|CDHR5_uc001lqm.2_5'Flank|CDHR5_uc009yce.1_Missense_Mutation_p.P9S|CDHR5_uc001lqn.1_Missense_Mutation_p.P9S	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	9					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						AGCAGGGGAGGCCACAGCAGG	0.706													A	624878	G	A	624878	3	1	27	1	0	0	0	0	1	0	0	0	3122	1203	42	2	2572	2	CDHR5	11	624878	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	26484	624878	134381638	5012	28963											
DEAF1	10522	broad.mit.edu	37	chr11	687961	687961	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctgatgttccggcaccgtAcgggcagctcactgtcgtac	12	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:687961A>G	uc001lqq.1	-	4	1307	c.614T>C	c.(613-615)GTA>GCA	p.V205A	DEAF1_uc009ycf.1_RNA	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	205	SAND.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CCGGCACCGTACGGGCAGCTC	0.552													G	687961	A	G	687961	3	3	27	1	0	0	0	0	1	0	0	0	4380	391	14	3	1119	3	DEAF1	11	687961	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	63083	687961	134318555	5013	28964											
EPS8L2	64787	broad.mit.edu	37	chr11	722548	722548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagagctggatgcggcccCggtagggcagggcagagcag	20	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:722548C>T	uc001lqt.2	+	13	1454	c.1207C>T	c.(1207-1209)CGT>TGT	p.R403C	EPS8L2_uc001lqu.2_Missense_Mutation_p.R403C|EPS8L2_uc010qwk.1_Missense_Mutation_p.R419C|EPS8L2_uc001lqv.2_Missense_Mutation_p.R358C|EPS8L2_uc001lqw.2_Missense_Mutation_p.R15C|EPS8L2_uc001lqx.2_Missense_Mutation_p.R15C|EPS8L2_uc001lqy.2_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	epidermal growth factor receptor pathway	403						cytoplasm				pancreas(1)	1		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATGCGGCCCCGGTAGGGCAG	0.692													T	722548	C	T	722548	3	4	27	1	0	0	0	0	1	0	0	0	5196	666	23	1	1253	1	EPS8L2	11	722548	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	34587	722548	134283968	5014	28965											
TALDO1	6888	broad.mit.edu	37	chr11	755935	755935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgtccctgatcctggccGcagcacagatgcccgcttac	9	18	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:755935G>A	uc001lqz.2	+	2	204	c.154G>A	c.(154-156)GCA>ACA	p.A52T	TALDO1_uc010qwl.1_Missense_Mutation_p.A52T|TALDO1_uc001lra.2_Missense_Mutation_p.A52T	NM_006755	NP_006746	P37837	TALDO_HUMAN	transaldolase 1	52					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		GATCCTGGCCGCAGCACAGAT	0.592													A	755935	G	A	755935	3	1	27	1	0	0	0	0	1	0	0	0	15540	1087	38	1	160	1	TALDO1	11	755935	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	33387	755935	134250581	5015	28966											
TSPAN4	7106	broad.mit.edu	37	chr11	866596	866596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgccatgaccatgtactGccaagtggtcaaggcagaca	10	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:866596G>A	uc001lsd.1	+	9	892	c.683G>A	c.(682-684)TGC>TAC	p.C228Y	TSPAN4_uc001lse.1_Missense_Mutation_p.C164Y|TSPAN4_uc001lsf.1_Missense_Mutation_p.C228Y|TSPAN4_uc001lsg.1_Missense_Mutation_p.C228Y|TSPAN4_uc001lsh.1_Missense_Mutation_p.C228Y|TSPAN4_uc001lsi.1_Missense_Mutation_p.C228Y|TSPAN4_uc001lsj.1_Missense_Mutation_p.C228Y	NM_003271	NP_003262	O14817	TSN4_HUMAN	tetraspanin 4 isoform a	228	Cytoplasmic (Potential).				protein complex assembly	integral to plasma membrane				breast(1)	1		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCATGTACTGCCAAGTGGTC	0.647													A	866596	G	A	866596	3	1	27	1	0	0	0	0	1	0	0	0	16646	1319	46	2	709	2	TSPAN4	11	866596	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	110661	866596	134139920	5016	28967											
AP2A2	161	broad.mit.edu	37	chr11	988613	988613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctacgccatgtgcgaccGcagcaacgccccacagatcg	9	18	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:988613G>A	uc001lss.2	+	10	1374	c.1193G>A	c.(1192-1194)CGC>CAC	p.R398H	AP2A2_uc001lst.1_Missense_Mutation_p.R399H|AP2A2_uc009yco.1_RNA	NM_012305	NP_036437	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2	398					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		ATGTGCGACCGCAGCAACGCC	0.607													A	988613	G	A	988613	3	1	27	1	0	0	0	0	1	0	0	0	740	1087	38	1	1231	1	AP2A2	11	988613	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	122017	988613	134017903	5017	28968											
MUC6	4588	broad.mit.edu	37	chr11	1016001	1016002	+	Frame_Shift_Ins	INS	-	-	TGAGA													ggaccgcgaggtggtggactINSgagaggagaaggcaggggcg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:1016000_1016001C>CTGAGA	uc001lsw.2	-	30	6851_6852	c.6800_6801G>TCTCAG	c.(6799-6801)cagfs	p.Q2267fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	2267	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGTGGTGGACTGAGAGGAGAA	0.634													TGAGA	1016002	-	TGAGA	1016001	7	5	27	1	0	1	1	0	0	0	0	0	9980	1580	55	0	531	0	MUC6	11	1016001	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	27388	1016001	133990515	5018	28969											
MUC6	4588	broad.mit.edu	37	chr11	1027755	1027755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaggcgtgtacgtagtcGcccagggcggcacagatgtg	17	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:1027755G>A	uc001lsw.2	-	16	1962	c.1911C>T	c.(1909-1911)GGC>GGT	p.G637G		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	637					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACGTAGTCGCCCAGGGCGG	0.657													A	1027755	G	A	1027755	2	1	27	1	0	0	0	0	0	0	0	1	9980	1074	38	1		1	MUC6	11	1027755	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	11754	1027755	133978761	5019	28970											
MUC2	4583	broad.mit.edu	37	chr11	1086052	1086052	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtggtggagtccagcacGggcatcatcgtcatctggga	15	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:1086052G>A	uc001lsx.1	+	22	2919	c.2892G>A	c.(2890-2892)ACG>ACA	p.T964T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	964	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGTCCAGCACGGGCATCATCG	0.637													A	1086052	G	A	1086052	2	1	27	1	0	0	0	0	0	0	0	1	9975	1103	39	1		1	MUC2	11	1086052	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	58297	1086052	133920464	5020	28971											
MUC2	4583	broad.mit.edu	37	chr11	1093612	1093612	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacccaccggcacacagaccCcaaccatgatacccatcagc	5	20	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:1093612C>A	uc001lsx.1	+	31	12544	c.12517C>A	c.(12517-12519)CCA>ACA	p.P4173T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4173						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CACACAGACCCCAACCATGAT	0.438													A	1093612	C	A	1093612	3	1	27	1	0	0	0	0	1	0	0	0	9975	623	22	5	5549	5	MUC2	11	1093612	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	7560	1093612	133912904	5021	28972											
MUC5B	727897	broad.mit.edu	37	chr11	1155730	1155730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcagggtcctcatgaagGtggatggcgtggtcatccag	16	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:1155730G>A	uc009ycr.1	+	5	544	c.418G>A	c.(418-420)GTG>ATG	p.V140M		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTCATGAAGGTGGATGGCGT	0.657													A	1155730	G	A	1155730	3	1	27	1	0	0	0	0	1	0	0	0	9979	1276	44	4		4	MUC5B	11	1155730	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	62118	1155730	133850786	5022	28973											
MUC5B	727897	broad.mit.edu	37	chr11	1264269	1264269	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacactaccaaagtgccaacTaccacaaccacgggcttcac	5	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:1264269T>C	uc009ycr.1	+	47	8364	c.8238T>C	c.(8236-8238)ACT>ACC	p.T2746T	MUC5B_uc001ltb.2_Silent_p.T2056T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2053	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AAGTGCCAACTACCACAACCA	0.642													C	1264269	T	C	1264269	2	2	27	1	0	0	0	0	0	0	0	1	9979	1509	53	3		3	MUC5B	11	1264269	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	108539	1264269	133742247	5023	28974											
MUC5B	727897	broad.mit.edu	37	chr11	1265019	1265019	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccagcagccccacatcGgcccccataaccacggtggt	9	19	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:1265019G>A	uc009ycr.1	+	48	8949	c.8823G>A	c.(8821-8823)TCG>TCA	p.S2941S	MUC5B_uc001ltb.2_Silent_p.S2306S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2303	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCCCACATCGGCCCCCATAA	0.701													A	1265019	G	A	1265019	2	1	27	1	0	0	0	0	0	0	0	1	9979	1103	39	1		1	MUC5B	11	1265019	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	750	1265019	133741497	5024	28975											
MUC5B	727897	broad.mit.edu	37	chr11	1270634	1270634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctgggcctcgagtgccGtgcccaggcccagcctggtg	15	17	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:1270634G>A	uc009ycr.1	+	51	14069	c.13943G>A	c.(13942-13944)CGT>CAT	p.R4648H	MUC5B_uc001ltb.2_Missense_Mutation_p.R4178H	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4175	7 X Cys-rich subdomain repeats.|Thr-rich.|Cys-rich subdomain 7.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCGAGTGCCGTGCCCAGGCC	0.692													A	1270634	G	A	1270634	3	1	27	1	0	0	0	0	1	0	0	0	9979	1145	40	1	12655	1	MUC5B	11	1270634	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5615	1270634	133735882	5025	28976											
MUC5B	727897	broad.mit.edu	37	chr11	1273599	1273599	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatctacaataagaccgacCgagccggctgccatttctac	7	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:1273599C>T	uc009ycr.1	+	53	15982	c.15856C>T	c.(15856-15858)CGA>TGA	p.R5286*	MUC5B_uc001ltb.2_Nonsense_Mutation_p.R4967*	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4964					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TAAGACCGACCGAGCCGGCTG	0.567													T	1273599	C	T	1273599	4	4	27	1	0	0	0	0	0	1	0	0	9979	644	23	1	15025	1	MUC5B	11	1273599	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2965	1273599	133732917	5026	28977											
CTSD	1509	broad.mit.edu	37	chr11	1780830	1780831	+	Frame_Shift_Ins	INS	-	-	G													aagacgactgtgaagcactgINSggggggcgtcccgatgccaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:1780829_1780830T>TG	uc001luc.2	-	2	401_402	c.268_269A>CA	c.(268-270)cagfs	p.Q90fs	MOB2_uc001ltq.2_Intron	NM_001909	NP_001900	P07339	CATD_HUMAN	Homo sapiens cathepsin D (CTSD), mRNA.	90					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	p.Q90fs*50(2)		endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTGAAGCACTGGGGGGGCGTC	0.649													G	1780831	-	G	1780830	7	5	27	1	0	1	1	0	0	0	0	0	4032	1357	47	0	998	0	CTSD	11	1780830	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	507231	1780830	133225686	5027	28978											
IGF2	3481	broad.mit.edu	37	chr11	2154747	2154747	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggggcccaggaccctcacCggaagcacggtcggaggggt	17	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:2154747C>T	uc009yde.2	-	3	409	c.306G>A	c.(304-306)CCG>CCA	p.P102P	IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Silent_p.P102P|IGF2_uc009ydf.2_Silent_p.P158P|IGF2_uc001lvh.2_Silent_p.P102P|INS-IGF2_uc001lvi.2_RNA	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	insulin-like growth factor 2 isoform 1	102					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)	1		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GGACCCTCACCGGAAGCACGG	0.642													T	2154747	C	T	2154747	2	4	27	1	0	0	0	0	0	0	0	1	7572	666	23	1		1	IGF2	11	2154747	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	373917	2154747	132851769	5028	28979											
TH	7054	broad.mit.edu	37	chr11	2186545	2186545	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttggtagggctgcacggcCgcagcctcagggtcgaaggc	16	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:2186545C>A	uc001lvq.2	-	13	1363	c.1344G>T	c.(1342-1344)GCG>GCT	p.A448A	TH_uc001lvp.2_Silent_p.A444A|TH_uc001lvr.2_Silent_p.A417A|TH_uc010qxj.1_Silent_p.A421A|TH_uc001lvs.2_Silent_p.A323A|TH_uc001lvt.2_Silent_p.A327A	NM_199292	NP_954986	P07101	TY3H_HUMAN	tyrosine hydroxylase isoform a	448					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity				0		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCTGCACGGCCGCAGCCTCAG	0.612													A	2186545	C	A	2186545	2	1	27	1	0	0	0	0	0	0	0	1	15835	639	23	5		5	TH	11	2186545	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	31798	2186545	132819971	5029	28980											
TH	7054	broad.mit.edu	37	chr11	2189370	2189370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttggtgaccaggtgatgaCacttgtccagctctgacact	10	11	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:2189370C>T	uc001lvq.2	-	5	639	c.620G>A	c.(619-621)TGT>TAT	p.C207Y	TH_uc001lvp.2_Missense_Mutation_p.C203Y|TH_uc001lvr.2_Missense_Mutation_p.C176Y|TH_uc010qxj.1_Missense_Mutation_p.C180Y|TH_uc001lvs.2_Missense_Mutation_p.C176Y|TH_uc001lvt.2_Missense_Mutation_p.C180Y|TH_uc009ydh.1_RNA	NM_199292	NP_954986	P07101	TY3H_HUMAN	tyrosine hydroxylase isoform a	207					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity				0		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CAGGTGATGACACTTGTCCAG	0.587													T	2189370	C	T	2189370	3	4	27	1	0	0	0	0	1	0	0	0	15835	478	17	4	1006	4	TH	11	2189370	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2825	2189370	132817146	5030	28981											
CARS	833	broad.mit.edu	37	chr11	3048007	3048007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttcgctgtatcaaagtagAcagacccattggagacatag	9	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:3048007A>G	uc001lxh.2	-	9	877	c.803T>C	c.(802-804)GTC>GCC	p.V268A	CARS_uc001lxe.2_Missense_Mutation_p.V258A|CARS_uc001lxf.2_Missense_Mutation_p.V351A|CARS_uc001lxg.2_Missense_Mutation_p.V268A|CARS_uc010qxo.1_Missense_Mutation_p.V351A|CARS_uc010qxp.1_Missense_Mutation_p.V281A|uc001lxi.1_5'Flank	NM_001751	NP_001742	P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase isoform b	268					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding	p.V268L(1)	CARS/ALK(5)	soft_tissue(5)|ovary(2)	7		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ATCAAAGTAGACAGACCCATT	0.473			T	ALK	ALCL								G	3048007	A	G	3048007	3	3	27	1	0	0	0	0	1	0	0	0	2657	275	10	3	1507	3	CARS	11	3048007	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	858637	3048007	131958509	5031	28982											
MRGPRE	116534	broad.mit.edu	37	chr11	3249355	3249355	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcaggccgcagaagaggaaGaggaggacggtgaggaggat	21	5	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:3249355G>A	uc001lxq.3	-	2	982	c.672C>T	c.(670-672)CTC>CTT	p.L224L		NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	224	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAAGAGGAAGAGGAGGACGG	0.657													A	3249355	G	A	3249355	2	1	27	1	0	0	0	0	0	0	0	1	9764	929	33	4		4	MRGPRE	11	3249355	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	201348	3249355	131757161	5032	28983											
ART1	417	broad.mit.edu	37	chr11	3681478	3681478	+	Frame_Shift_Del	DEL	C	C	-													ggagaggaagaggtgctgatCcccccctttgagaccttcca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:3681477_3681477TC>T	uc001lye.1	+	2	829	c.728_728TC>T	c.(727-729)atcfs	p.I243fs	ART1_uc009yeb.1_Frame_Shift_Del_p.I243fs	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	243					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GAGGTGCTGATCCCCCCCTTT	0.612													-	3681478	C	-	3681478	7	5	27	1	0	1	0	1	0	0	0	0	997	845	30	0	735	0	ART1	11	3681478	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	432123	3681478	131325038	5033	28984											
NUP98	4928	broad.mit.edu	37	chr11	3700923	3700923	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaggtagtcatagttcTcattaatgatggcatctgaa	8	8	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:3700923T>C	uc001lyh.2	-	31	5225	c.4934A>G	c.(4933-4935)GAG>GGG	p.E1645G	NUP98_uc001lyi.2_Missense_Mutation_p.E1571G|NUP98_uc001lyg.2_Missense_Mutation_p.E610G	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1662					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GTCATAGTTCTCATTAATGAT	0.458			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								C	3700923	T	C	3700923	3	2	27	1	0	0	0	0	1	0	0	0	10773	1551	54	3	480	3	NUP98	11	3700923	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	19445	3700923	131305593	5034	28985											
PGAP2	27315	broad.mit.edu	37	chr11	3838588	3838588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgtgctgcttaggccacGccctgcaggatgttctctgc	11	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:3838588G>A	uc001lys.2	+	3	297	c.171G>A	c.(169-171)ACG>ACA	p.T57T	PGAP2_uc001lyl.2_Intron|PGAP2_uc010qxw.1_Silent_p.T114T|PGAP2_uc010qxx.1_Intron|PGAP2_uc001lyp.3_Intron|PGAP2_uc010qxy.1_Intron|PGAP2_uc010qxz.1_Intron|PGAP2_uc001lyn.3_Intron|PGAP2_uc010qya.1_Intron|PGAP2_uc001lyr.2_Intron|PGAP2_uc010qyb.1_Intron|PGAP2_uc001lyt.2_Intron	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	57					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0						CTTAGGCCACGCCCTGCAGGA	0.592													A	3838588	G	A	3838588	2	1	27	1	0	0	0	0	0	0	0	1	11778	1074	38	1		1	PGAP2	11	3838588	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	137665	3838588	131167928	5035	28986											
PGAP2	27315	broad.mit.edu	37	chr11	3845574	3845574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcacctgcattctctggCggttgaccaagaagcacaca	8	14	2	2	rs144767060		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:3845574C>T	uc001lys.2	+	5	802	c.676C>T	c.(676-678)CGG>TGG	p.R226W	PGAP2_uc001lyl.2_Missense_Mutation_p.R183W|PGAP2_uc010qxw.1_Missense_Mutation_p.R283W|PGAP2_uc010qxx.1_Missense_Mutation_p.A206V|PGAP2_uc001lyp.3_Missense_Mutation_p.A92V|PGAP2_uc010qxy.1_Missense_Mutation_p.R222W|PGAP2_uc010qxz.1_Missense_Mutation_p.R222W|PGAP2_uc001lyn.3_Missense_Mutation_p.A118V|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_Missense_Mutation_p.R165W|PGAP2_uc010qyb.1_Missense_Mutation_p.A168V|PGAP2_uc001lyt.2_Missense_Mutation_p.R9W	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	226					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0						CATTCTCTGGCGGTTGACCAA	0.537											OREG0020703	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	3845574	C	T	3845574	3	4	27	1	0	0	0	0	1	0	0	0	11778	768	27	1	869	1	PGAP2	11	3845574	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6986	3845574	131160942	5036	28987											
STIM1	6786	broad.mit.edu	37	chr11	4112932	4112932	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctggcaagaaggctgtggcTgaggaggataatggctctat	16	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:4112932T>A	uc001lyv.2	+	12	2530	c.1962T>A	c.(1960-1962)GCT>GCA	p.A654A	STIM1_uc009yef.2_3'UTR|STIM1_uc009yeg.2_Silent_p.A481A|RRM1_uc009yeh.1_5'Flank|RRM1_uc001lyw.3_5'Flank|RRM1_uc009yei.2_5'Flank|RRM1_uc010qyc.1_5'Flank	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	654	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			pancreas(1)	1		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		AGGCTGTGGCTGAGGAGGATA	0.562													A	4112932	T	A	4112932	2	1	27	1	0	0	0	0	0	0	0	1	15282	1567	55	5		5	STIM1	11	4112932	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	267358	4112932	130893584	5037	28988											
RRM1	6240	broad.mit.edu	37	chr11	4139675	4139675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttgtattcgggctactgGcagctacattgctggggtag	15	7	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:4139675G>A	uc001lyw.3	+	8	1095	c.776G>A	c.(775-777)GGC>GAC	p.G259D	RRM1_uc009yej.2_RNA|RRM1_uc009yeh.1_Missense_Mutation_p.G162D|RRM1_uc009yei.2_Missense_Mutation_p.G219D|RRM1_uc010qyc.1_Missense_Mutation_p.G162D|RRM1_uc010qyd.1_5'UTR	NM_001033	NP_001024	P23921	RIR1_HUMAN	ribonucleoside-diphosphate reductase M1 chain	259					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	CGGGCTACTGGCAGCTACATT	0.383													A	4139675	G	A	4139675	3	1	27	1	0	0	0	0	1	0	0	0	13681	1203	42	2	806	2	RRM1	11	4139675	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	26743	4139675	130866841	5038	28989											
TRIM21	6737	broad.mit.edu	37	chr11	4409705	4409705	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcttcttcaaccaggaagTttttttgctgcacaaactct	6	10	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:4409705T>C	uc001lyy.1	-	4	673	c.560A>G	c.(559-561)AAC>AGC	p.N187S		NM_003141	NP_003132	P19474	RO52_HUMAN	tripartite motif protein 21	187	Potential.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AACCAGGAAGTTTTTTTGCTG	0.483													C	4409705	T	C	4409705	3	2	27	1	0	0	0	0	1	0	0	0	16492	1725	60	3	883	3	TRIM21	11	4409705	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	270030	4409705	130596811	5039	28990											
TRIM21	6737	broad.mit.edu	37	chr11	4410964	4410964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctcagttcccctaatgCcacctggagcttctcctgca	6	16	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:4410964C>T	uc001lyy.1	-	3	537	c.424G>A	c.(424-426)GCA>ACA	p.A142T		NM_003141	NP_003132	P19474	RO52_HUMAN	tripartite motif protein 21	142	Potential.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		TCCCCTAATGCCACCTGGAGC	0.463													T	4410964	C	T	4410964	3	4	27	1	0	0	0	0	1	0	0	0	16492	739	26	2	1023	2	TRIM21	11	4410964	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1259	4410964	130595552	5040	28991											
OR52K1	390036	broad.mit.edu	37	chr11	4510704	4510704	+	Frame_Shift_Del	DEL	G	G	-													ctgtggtaaggctggcgtgtGgggacactagcttcaacaat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:4510703_4510703TG>T	uc001lza.2	+	0	595	c.573_573TG>T	c.(571-573)tgtfs	p.C191fs		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A190V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGCTGGCGTGTGGGGACACTA	0.507													-	4510704	G	-	4510704	7	5	27	1	0	1	0	1	0	0	0	0	11123	1348	47	0	576	0	OR52K1	11	4510704	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	99740	4510704	130495812	5041	28992											
OR52K1	390036	broad.mit.edu	37	chr11	4511027	4511027	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatatggagtcaagaccaaGcagattcgtgagtatgtgct	11	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:4511027G>A	uc001lza.1	+	1	897	c.897G>A	c.(895-897)AAG>AAA	p.K299K		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCAAGACCAAGCAGATTCGTG	0.438													A	4511027	G	A	4511027	2	1	27	1	0	0	0	0	0	0	0	1	11123	962	34	2		2	OR52K1	11	4511027	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	323	4511027	130495489	5042	28993											
OR52I1	390037	broad.mit.edu	37	chr11	4615865	4615865	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctgaccccgtgcccagCagtctctacagtctgattgg	11	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:4615865C>A	uc010qyi.1	+	1	597	c.597C>A	c.(595-597)AGC>AGA	p.S199R		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I,	199	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCGTGCCCAGCAGTCTCTACA	0.483													A	4615865	C	A	4615865	3	1	27	1	0	0	0	0	1	0	0	0	11120	709	25	5	599	5	OR52I1	11	4615865	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	104838	4615865	130390651	5043	28994											
TRIM68	55128	broad.mit.edu	37	chr11	4621846	4621846	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctacattttgcttacatactCccaggccccactcagacctg	5	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:4621846C>A	uc001lzf.1	-	7	1356	c.1118G>T	c.(1117-1119)GGA>GTA	p.G373V	TRIM68_uc001lzg.1_Missense_Mutation_p.G150V|TRIM68_uc010qyj.1_RNA	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	ring finger protein 137	373	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTTACATACTCCCAGGCCCCA	0.532													A	4621846	C	A	4621846	3	1	27	1	0	0	0	0	1	0	0	0	16538	855	30	5	343	5	TRIM68	11	4621846	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5981	4621846	130384670	5044	28995											
OR51E1	143503	broad.mit.edu	37	chr11	4674217	4674217	+	Frame_Shift_Del	DEL	G	G	-													tggtgtggctgctgtggtgcGgggggctgcactgatggcac							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:4674216_4674216CG>C	uc021qcq.1	+	0	460	c.460_460CG>C	c.(460-462)cggfs	p.R154fs	OR51E1_uc001lzi.4_Frame_Shift_Del_p.R154fs	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGTGGTGCGGGGGGCTGC	0.557													-	4674217	G	-	4674217	7	5	27	1	0	1	0	1	0	0	0	0	11094	1116	39	0	463	0	OR51E1	11	4674217	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	52371	4674217	130332299	5045	28996											
OR52R1	119695	broad.mit.edu	37	chr11	4825366	4825366	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaatatggccaacatcttaGgttgagtggaggaggagagg	16	4	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:4825366G>T	uc010qym.1	-	1	482	c.482C>A	c.(481-483)CCT>CAT	p.P161H		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	82	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAACATCTTAGGTTGAGTGGA	0.498													T	4825366	G	T	4825366	3	4	27	1	0	0	0	0	1	0	0	0	11131	1000	35	5	705	5	OR52R1	11	4825366	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	151149	4825366	130181150	5046	28997											
OR51S1	119692	broad.mit.edu	37	chr11	4870066	4870066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccgatcaatggacatggCgagcaagacagaggactcca	12	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:4870066C>T	uc010qyo.1	-	1	373	c.373G>A	c.(373-375)GCC>ACC	p.A125T		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	125	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGACATGGCGAGCAAGACA	0.527													T	4870066	C	T	4870066	3	4	27	1	0	0	0	0	1	0	0	0	11105	768	27	1	601	1	OR51S1	11	4870066	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	44700	4870066	130136450	5047	28998											
OR51T1	401665	broad.mit.edu	37	chr11	4903898	4903898	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcactattttctatgtgccaCtgatcagcctctctttggca	6	12	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:4903898C>A	uc010qyp.1	+	1	850	c.850C>A	c.(850-852)CTG>ATG	p.L284M		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T,	257	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTATGTGCCACTGATCAGCCT	0.502													A	4903898	C	A	4903898	3	1	27	1	0	0	0	0	1	0	0	0	11106	564	20	5	852	5	OR51T1	11	4903898	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	33832	4903898	130102618	5048	28999											
OR51G1	79324	broad.mit.edu	37	chr11	4945098	4945098	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaatggcaaggggaggaTgaggagagcacttctaagca	17	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:4945098T>C	uc010qyr.1	-	1	472	c.472A>G	c.(472-474)ATC>GTC	p.I158V		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGGGGAGGATGAGGAGAGCA	0.542													C	4945098	T	C	4945098	3	2	27	1	0	0	0	0	1	0	0	0	11098	1464	51	3	495	3	OR51G1	11	4945098	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	41200	4945098	130061418	5049	29000											
OR51A4	401666	broad.mit.edu	37	chr11	4967485	4967485	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtcagtggaggtacaagTaggagaacatttgccatgag	13	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:4967485T>C	uc010qys.1	-	1	846	c.846A>G	c.(844-846)CTA>CTG	p.L282L		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A,	282	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGGTACAAGTAGGAGAACAT	0.433													C	4967485	T	C	4967485	2	2	27	1	0	0	0	0	0	0	0	1	11087	1625	57	3		3	OR51A4	11	4967485	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	22387	4967485	130039031	5050	29001											
OR51A2	401667	broad.mit.edu	37	chr11	4976522	4976522	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccctatttgggcaactctgAcagttgtcaggattgaggtg	12	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:4976522A>T	uc010qyt.1	-	1	422	c.422T>A	c.(421-423)GTC>GAC	p.V141D		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A,	141	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCAACTCTGACAGTTGTCAG	0.433													T	4976522	A	T	4976522	3	4	27	1	0	0	0	0	1	0	0	0	11086	275	10	5	521	5	OR51A2	11	4976522	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	9037	4976522	130029994	5051	29002											
MMP26	56547	broad.mit.edu	37	chr11	5009533	5009533	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaccataaaggatgggactTtgttgaggtaggtgaacgac	14	5	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:5009533T>C	uc001lzv.2	+	1	110	c.92T>C	c.(91-93)TTT>TCT	p.F31S		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	matrix metalloproteinase 26 preproprotein	31					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGATGGGACTTTGTTGAGGTA	0.443													C	5009533	T	C	5009533	3	2	27	1	0	0	0	0	1	0	0	0	9663	1841	64	3	94	3	MMP26	11	5009533	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	33011	5009533	129996983	5052	29003											
MMP26	56547	broad.mit.edu	37	chr11	5013200	5013200	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctataatttttcaggatataAtctgttcctggttgcaactc	6	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:5013200A>T	uc001lzv.2	+	5	620	c.602A>T	c.(601-603)AAT>ATT	p.N201I		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	matrix metalloproteinase 26 preproprotein	201					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCAGGATATAATCTGTTCCTG	0.388													T	5013200	A	T	5013200	3	4	27	1	0	0	0	0	1	0	0	0	9663	101	4	5	620	5	MMP26	11	5013200	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3667	5013200	129993316	5053	29004											
OR51L1	119682	broad.mit.edu	37	chr11	5020602	5020602	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttttgttgctatctgccaTccactgcactaccccaccat	5	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:5020602T>C	uc010qyu.1	+	1	390	c.390T>C	c.(388-390)CAT>CAC	p.H130H		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTATCTGCCATCCACTGCACT	0.498													C	5020602	T	C	5020602	2	2	27	1	0	0	0	0	0	0	0	1	11102	1432	50	3		3	OR51L1	11	5020602	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	7402	5020602	129985914	5054	29005											
OR52A4	390053	broad.mit.edu	37	chr11	5142602	5142602	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatgtctgtggctcctaaCgtggccaggaagatatacat	11	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:5142602C>T	uc001lzz.1	-	1	207	c.207G>A	c.(205-207)ACG>ACA	p.T69T	OR52A4_uc001maa.2_RNA	NM_001005222	NP_001005222			olfactory receptor, family 52, subfamily A,											ovary(2)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGGCTCCTAACGTGGCCAGGA	0.423													T	5142602	C	T	5142602	2	4	27	1	0	0	0	0	0	0	0	1	11109	523	19	1		1	OR52A4	11	5142602	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	122000	5142602	129863914	5055	29006											
OR51V1	283111	broad.mit.edu	37	chr11	5221892	5221892	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaattcgtgctggtgctAgggcttactgaagtaatcat	12	6	1	2	rs145244038		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:5221892A>G	uc010qyz.1	-	1	39	c.39T>C	c.(37-39)CCT>CCC	p.P13P		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V,	13	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTGGTGCTAGGGCTTACTG	0.408													G	5221892	A	G	5221892	2	3	27	1	0	0	0	0	0	0	0	1	11107	407	15	3		3	OR51V1	11	5221892	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	79290	5221892	129784624	5056	29007											
HBE1	3046	broad.mit.edu	37	chr11	5290838	5290838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttggggttgcccaggatgGcagagggagacgacaggttt	17	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:5290838G>A	uc001mal.1	-	2	414	c.161C>T	c.(160-162)GCC>GTC	p.A54V	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.A54V	NM_005330	NP_005321	P02100	HBE_HUMAN	epsilon globin	54					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCCAGGATGGCAGAGGGAGA	0.478													A	5290838	G	A	5290838	3	1	27	1	0	0	0	0	1	0	0	0	6980	1203	42	2	290	2	HBE1	11	5290838	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	68946	5290838	129715678	5057	29008											
OR51Q1	390061	broad.mit.edu	37	chr11	5444364	5444364	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttaaatttcctttccctcAaaaatatgcattcaagatga	4	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:5444364A>G	uc010qzd.1	+	1	934	c.934A>G	c.(934-936)AAA>GAA	p.K312E	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q,	312	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTTTCCCTCAAAAATATGCA	0.393													G	5444364	A	G	5444364	3	3	27	1	0	0	0	0	1	0	0	0	11104	131	5	3	936	3	OR51Q1	11	5444364	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	153526	5444364	129562152	5058	29009											
OR52D1	390066	broad.mit.edu	37	chr11	5510093	5510093	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgccctcatcctggtcattGccatggacaatgctcttcat	7	14	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:5510093G>T	uc010qzg.1	+	1	157	c.157G>T	c.(157-159)GCC>TCC	p.A53S	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGGTCATTGCCATGGACAA	0.537													T	5510093	G	T	5510093	3	4	27	1	0	0	0	0	1	0	0	0	11114	1319	46	5	159	5	OR52D1	11	5510093	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	65729	5510093	129496423	5059	29010											
UBQLN3	50613	broad.mit.edu	37	chr11	5530154	5530154	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgcataatttccgggttgTtaagaatatgcccaatctca	8	10	1	1	rs141351264		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:5530154T>C	uc001may.1	-	2	721	c.635A>G	c.(634-636)AAC>AGC	p.N212S	HBG2_uc001mak.1_Intron	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	212										ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCGGGTTGTTAAGAATATG	0.522													C	5530154	T	C	5530154	3	2	27	1	0	0	0	0	1	0	0	0	16895	1725	60	3	1336	3	UBQLN3	11	5530154	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	20061	5530154	129476362	5060	29011											
OR52B6	340980	broad.mit.edu	37	chr11	5602252	5602252	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actacatatctggctgtccaTccccttctgcatcatgtaca	5	14	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:5602252T>A	uc010qzi.1	+	1	146	c.146T>A	c.(145-147)ATC>AAC	p.I49N	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	49	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCTGTCCATCCCCTTCTGC	0.512													A	5602252	T	A	5602252	3	1	27	1	0	0	0	0	1	0	0	0	11113	1435	50	5	148	5	OR52B6	11	5602252	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	72098	5602252	129404264	5061	29012											
OR52B6	340980	broad.mit.edu	37	chr11	5602389	5602389	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgatgtcttgctctctAccaccaccatgcctaaggcc	8	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:5602389A>G	uc010qzi.1	+	1	283	c.283A>G	c.(283-285)ACC>GCC	p.T95A	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	95	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTGCTCTCTACCACCACCAT	0.478													G	5602389	A	G	5602389	3	3	27	1	0	0	0	0	1	0	0	0	11113	391	14	3	285	3	OR52B6	11	5602389	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	137	5602389	129404127	5062	29013											
OR52B6	340980	broad.mit.edu	37	chr11	5602413	5602413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccatgcctaaggccctgGccaatttgtggctaggttat	10	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:5602413G>A	uc010qzi.1	+	1	307	c.307G>A	c.(307-309)GCC>ACC	p.A103T	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	103	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAAGGCCCTGGCCAATTTGTG	0.502													A	5602413	G	A	5602413	3	1	27	1	0	0	0	0	1	0	0	0	11113	1203	42	2	309	2	OR52B6	11	5602413	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	24	5602413	129404103	5063	29014											
TRIM5	85363	broad.mit.edu	37	chr11	5687267	5687267	+	Frame_Shift_Del	DEL	T	T	-													ctcgaaacactctcctttgaTtttttggaaaagtttctggc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:5687266_5687266AT>A	uc001mbm.2	-	5	1116	c.813_813AT>T	c.(811-813)aatfs	p.N271fs	TRIM6-TRIM34_uc009yer.3_Non-coding_Transcript|TRIM5_uc001mbl.2_Non-coding_Transcript|TRIM5_uc001mbn.3_Frame_Shift_Del_p.N271fs|TRIM5_uc001mbp.3_Frame_Shift_Del_p.N271fs	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	Homo sapiens tripartite motif containing 5 (TRIM5), transcript variant alpha, mRNA.	271					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CTCTCCTTTGATTTTTTGGAA	0.398													-	5687267	T	-	5687267	7	5	27	1	0	1	0	1	0	0	0	0	16522	1493	52	0	920	0	TRIM5	11	5687267	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	84854	5687267	129319249	5064	29015											
TRIM5	85363	broad.mit.edu	37	chr11	5700312	5700312	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatcctcttgccttccaggAagctttctcttctctgatgt	6	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:5700312A>G	uc001mbm.1	-	3	762	c.505T>C	c.(505-507)TCC>CCC	p.S169P	TRIM5_uc001mbq.1_Missense_Mutation_p.S169P|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.S169P|TRIM5_uc001mbo.2_Missense_Mutation_p.S169P|TRIM5_uc001mbp.2_Missense_Mutation_p.S169P	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	169	Potential.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GCCTTCCAGGAAGCTTTCTCT	0.502													G	5700312	A	G	5700312	3	3	27	1	0	0	0	0	1	0	0	0	16522	246	9	3	1239	3	TRIM5	11	5700312	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	13045	5700312	129306204	5065	29016											
OR52E4	390081	broad.mit.edu	37	chr11	5905954	5905954	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccaataaaaccatcagTatcctagcttctgtggttgt	6	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:5905954T>C	uc010qzs.1	+	1	432	c.432T>C	c.(430-432)AGT>AGC	p.S144S	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	144	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAACCATCAGTATCCTAGCTT	0.458													C	5905954	T	C	5905954	2	2	27	1	0	0	0	0	0	0	0	1	11116	1635	57	3		3	OR52E4	11	5905954	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	205642	5905954	129100562	5066	29017											
OR56A3	390083	broad.mit.edu	37	chr11	5969268	5969268	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cattctgcgagctgtgctgaGactcaaggcagagggtgccg	15	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:5969268G>A	uc010qzt.1	+	1	692	c.692G>A	c.(691-693)AGA>AAA	p.R231K		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGTGCTGAGACTCAAGGCA	0.512													A	5969268	G	A	5969268	3	1	27	1	0	0	0	0	1	0	0	0	11134	942	33	4	694	4	OR56A3	11	5969268	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	63314	5969268	129037248	5067	29018											
OR52L1	338751	broad.mit.edu	37	chr11	6007329	6007329	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaccaaagcggtgagtgaGgaaggagaaaattccaggga	15	5	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:6007329G>T	uc001mcd.2	-	1	887	c.832C>A	c.(832-834)CTC>ATC	p.L278I		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	278	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGTGAGTGAGGAAGGAGAAA	0.502													T	6007329	G	T	6007329	3	4	27	1	0	0	0	0	1	0	0	0	11125	1000	35	5	161	5	OR52L1	11	6007329	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	38061	6007329	128999187	5068	29019											
OR56A1	120796	broad.mit.edu	37	chr11	6048082	6048082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaataaggtgatgaaggaCgttcagcaggatcaggatgt	15	4	2	2	rs139101039	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:6048082C>T	uc010qzw.1	-	1	853	c.853G>A	c.(853-855)GTC>ATC	p.V285I		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATGAAGGACGTTCAGCAGG	0.473													T	6048082	C	T	6048082	3	4	27	1	0	0	0	0	1	0	0	0	11133	536	19	1	107	1	OR56A1	11	6048082	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	40753	6048082	128958434	5069	29020											
FAM160A2	84067	broad.mit.edu	37	chr11	6239971	6239971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcttctggctcagcataaCgtggttacatggaacaagat	11	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:6239971C>T	uc001mcl.3	-	8	1653	c.1294G>A	c.(1294-1296)GTT>ATT	p.V432I	FAM160A2_uc001mck.3_Missense_Mutation_p.V432I|FAM160A2_uc001mcm.2_Missense_Mutation_p.V432I	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	432					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						CTCAGCATAACGTGGTTACAT	0.522													T	6239971	C	T	6239971	3	4	27	1	0	0	0	0	1	0	0	0	5469	536	19	1	1686	1	FAM160A2	11	6239971	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	191889	6239971	128766545	5070	29021											
FAM160A2	84067	broad.mit.edu	37	chr11	6243821	6243821	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagataggcggtactggcgaTcatctcctccacagaggtct	11	12	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:6243821T>A	uc001mcl.3	-	6	1401	c.1042A>T	c.(1042-1044)ATC>TTC	p.I348F	FAM160A2_uc001mck.3_Missense_Mutation_p.I348F|FAM160A2_uc001mcm.2_Missense_Mutation_p.I348F	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	348					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						GTACTGGCGATCATCTCCTCC	0.502													A	6243821	T	A	6243821	3	1	27	1	0	0	0	0	1	0	0	0	5469	1435	50	5	1946	5	FAM160A2	11	6243821	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3850	6243821	128762695	5071	29022											
CCKBR	887	broad.mit.edu	37	chr11	6292256	6292256	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggggctgttcaccagaAcgggcgttgccggcctgaga	15	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:6292256A>G	uc001mcp.2	+	5	1020	c.827A>G	c.(826-828)AAC>AGC	p.N276S	CCKBR_uc001mcq.2_Missense_Mutation_p.N204S|CCKBR_uc001mcr.2_Missense_Mutation_p.N276S|CCKBR_uc001mcs.2_Missense_Mutation_p.N345S|CCKBR_uc001mct.1_RNA	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	276	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GTTCACCAGAACGGGCGTTGC	0.662													G	6292256	A	G	6292256	3	3	27	1	0	0	0	0	1	0	0	0	2881	43	2	3	845	3	CCKBR	11	6292256	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	48435	6292256	128714260	5072	29023											
TRIM3	10612	broad.mit.edu	37	chr11	6486843	6486843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaccttggggcactggtacCgatccaggcagatgctgcat	13	11	0	1	rs146379181		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:6486843C>T	uc001mdh.2	-	3	470	c.83G>A	c.(82-84)CGG>CAG	p.R28Q	TRIM3_uc001mdi.2_Missense_Mutation_p.R28Q|TRIM3_uc010raj.1_Intron|TRIM3_uc009yfd.2_Missense_Mutation_p.R28Q|TRIM3_uc010rak.1_Missense_Mutation_p.R28Q|TRIM3_uc001mdj.2_5'UTR	NM_006458	NP_006449	O75382	TRIM3_HUMAN	tripartite motif-containing 3	28	RING-type.				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCACTGGTACCGATCCAGGCA	0.602													T	6486843	C	T	6486843	3	4	27	1	0	0	0	0	1	0	0	0	16501	652	23	1	2195	1	TRIM3	11	6486843	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	194587	6486843	128519673	5073	29024											
TPP1	1200	broad.mit.edu	37	chr11	6638383	6638383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaacggtgcagtcccccCactgtagggagaagtcaggc	14	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:6638383C>T	uc001mel.1	-	6	571	c.510G>A	c.(508-510)GTG>GTA	p.V170V	TPP1_uc001mek.1_5'UTR|TPP1_uc010rar.1_3'UTR	NM_000391	NP_000382	O14773	TPP1_HUMAN	tripeptidyl-peptidase I preproprotein	170					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GCAGTCCCCCCACTGTAGGGA	0.567													T	6638383	C	T	6638383	2	4	27	1	0	0	0	0	0	0	0	1	16408	608	21	4		4	TPP1	11	6638383	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	151540	6638383	128368133	5074	29025											
DCHS1	8642	broad.mit.edu	37	chr11	6661560	6661560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcctctcgatccagccGccgagccacacacaccagat	6	20	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:6661560G>A	uc001mem.1	-	2	1695	c.1285C>T	c.(1285-1287)CGG>TGG	p.R429W		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	429	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGATCCAGCCGCCGAGCCACA	0.577													A	6661560	G	A	6661560	3	1	27	1	0	0	0	0	1	0	0	0	4287	1086	38	1	8691	1	DCHS1	11	6661560	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	23177	6661560	128344956	5075	29026											
OR2AG1	144125	broad.mit.edu	37	chr11	6806618	6806618	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggacctcctactggcctTcatggcctatgacaggtatg	11	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:6806618T>C	uc001mer.1	+	1	350	c.350T>C	c.(349-351)TTC>TCC	p.F117S		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTACTGGCCTTCATGGCCTAT	0.542													C	6806618	T	C	6806618	3	2	27	1	0	0	0	0	1	0	0	0	10984	1783	62	3	352	3	OR2AG1	11	6806618	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	145058	6806618	128199898	5076	29027											
OR10A2	341276	broad.mit.edu	37	chr11	6891104	6891104	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctggttaccctagctgaccCcatgctacacagccccatgt	7	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:6891104C>A	uc001meu.1	+	1	119	c.119C>A	c.(118-120)CCC>CAC	p.P40H		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A,	40	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTAGCTGACCCCATGCTACAC	0.468													A	6891104	C	A	6891104	3	1	27	1	0	0	0	0	1	0	0	0	10890	623	22	5	121	5	OR10A2	11	6891104	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	84486	6891104	128115412	5077	29028											
ZNF214	7761	broad.mit.edu	37	chr11	7021635	7021635	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgaatttgaagatttgAgcgctgggtaaagcctttac	11	6	0	5	rs113759066		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:7021635A>T	uc001mfa.2	-	3	1582	c.1279T>A	c.(1279-1281)TCA>ACA	p.S427T	ZNF214_uc010ray.1_Missense_Mutation_p.S427T|ZNF214_uc009yfh.1_Missense_Mutation_p.S427T	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	427	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TGAAGATTTGAGCGCTGGGTA	0.413													T	7021635	A	T	7021635	3	4	27	1	0	0	0	0	1	0	0	0	17767	304	11	5	545	5	ZNF214	11	7021635	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	130531	7021635	127984881	5078	29029											
NLRP14	338323	broad.mit.edu	37	chr11	7081168	7081168	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacttagcagtgaatatctgTcaacttctcttctacacaac	4	12	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:7081168T>A	uc001mfb.1	+	9	3000	c.2677T>A	c.(2677-2679)TCA>ACA	p.S893T		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	893	LRR 6.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGAATATCTGTCAACTTCTCT	0.443													A	7081168	T	A	7081168	3	1	27	1	0	0	0	0	1	0	0	0	10476	1667	58	5	2707	5	NLRP14	11	7081168	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	59533	7081168	127925348	5079	29030											
SYT9	143425	broad.mit.edu	37	chr11	7439228	7439228	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgtgtgatggcagacgActgaagaagaggaaaacatc	13	6	0	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:7439228A>T	uc001mfe.2	+	5	1443	c.1206A>T	c.(1204-1206)CGA>CGT	p.R402R	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	402	Cytoplasmic (Potential).|C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATGGCAGACGACTGAAGAAGA	0.468													T	7439228	A	T	7439228	2	4	27	1	0	0	0	0	0	0	0	1	15478	262	10	5		5	SYT9	11	7439228	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	358060	7439228	127567288	5080	29031											
PPFIBP2	8495	broad.mit.edu	37	chr11	7631603	7631603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgaagctcaagctggttGgcatggagaaggagcagaga	16	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:7631603G>A	uc001mfj.3	+	6	956	c.568G>A	c.(568-570)GGC>AGC	p.G190S	PPFIBP2_uc010rbb.1_Missense_Mutation_p.G113S|PPFIBP2_uc001mfk.1_RNA|PPFIBP2_uc010rbc.1_Missense_Mutation_p.G113S|PPFIBP2_uc010rbd.1_Missense_Mutation_p.G32S|PPFIBP2_uc010rbe.1_Missense_Mutation_p.G78S|PPFIBP2_uc001mfl.3_Missense_Mutation_p.G47S	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2	190	Potential.				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			ovary(2)|breast(2)	4				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAAGCTGGTTGGCATGGAGAA	0.517													A	7631603	G	A	7631603	3	1	27	1	0	0	0	0	1	0	0	0	12314	1348	47	4	586	4	PPFIBP2	11	7631603	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	192375	7631603	127374913	5081	29032											
PPFIBP2	8495	broad.mit.edu	37	chr11	7672093	7672093	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taacctttctccttcagaagTtgtacagtggtccaaccaca	6	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:7672093T>C	uc001mfj.3	+	22	2532	c.2144T>C	c.(2143-2145)GTT>GCT	p.V715A	PPFIBP2_uc010rbb.1_Missense_Mutation_p.V638A|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Missense_Mutation_p.V649A|PPFIBP2_uc010rbe.1_Missense_Mutation_p.V603A|PPFIBP2_uc001mfl.3_Missense_Mutation_p.V572A|PPFIBP2_uc009yfj.1_Missense_Mutation_p.V359A	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2	715					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			ovary(2)|breast(2)	4				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCTTCAGAAGTTGTACAGTGG	0.537													C	7672093	T	C	7672093	3	2	27	1	0	0	0	0	1	0	0	0	12314	1725	60	3	2226	3	PPFIBP2	11	7672093	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	40490	7672093	127334423	5082	29033											
CYB5R2	51700	broad.mit.edu	37	chr11	7686758	7686758	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcatgtcggcagtaacgaaGcctgagctgtacttccagcc	10	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:7686758G>T	uc001mfm.2	-	9	916	c.678C>A	c.(676-678)GGC>GGA	p.G226G	CYB5R2_uc001mfn.2_RNA|CYB5R2_uc009yfk.2_Silent_p.G226G	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase b5R.2	226					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity				0				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGTAACGAAGCCTGAGCTGT	0.602											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	7686758	G	T	7686758	2	4	27	1	0	0	0	0	0	0	0	1	4127	958	34	5		5	CYB5R2	11	7686758	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	14665	7686758	127319758	5083	29034											
CYB5R2	51700	broad.mit.edu	37	chr11	7693999	7693999	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctttctcaatcaagggcaGcgggtacttggcttcagggt	12	10	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:7693999G>A	uc001mfm.2	-	2	296	c.58C>T	c.(58-60)CTG>TTG	p.L20L	CYB5R2_uc001mfn.2_RNA|CYB5R2_uc009yfk.2_Silent_p.L20L|CYB5R2_uc009yfl.1_Silent_p.L20L	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase b5R.2	20	FAD-binding FR-type.				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity				0				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATCAAGGGCAGCGGGTACTTG	0.557													A	7693999	G	A	7693999	2	1	27	1	0	0	0	0	0	0	0	1	4127	962	34	2		2	CYB5R2	11	7693999	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	7241	7693999	127312517	5084	29035											
OR5P2	120065	broad.mit.edu	37	chr11	7817752	7817752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtaatggtcccatagaaCagggtaaccacagtgaggtg	13	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:7817752C>T	uc001mfp.1	-	1	738	c.738G>A	c.(736-738)CTG>CTA	p.L246L		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P,	246	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCCCATAGAACAGGGTAACCA	0.493													T	7817752	C	T	7817752	2	4	27	1	0	0	0	0	0	0	0	1	11178	465	17	4		4	OR5P2	11	7817752	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	123753	7817752	127188764	5085	29036											
OR5P3	120066	broad.mit.edu	37	chr11	7846735	7846735	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagttgagtagctggacttgGgcatcacataaatgaaggta	12	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:7846735G>T	uc010rbg.1	-	1	785	c.785C>A	c.(784-786)CCC>CAC	p.P262H		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTGGACTTGGGCATCACATA	0.532													T	7846735	G	T	7846735	3	4	27	1	0	0	0	0	1	0	0	0	11179	1232	43	5	153	5	OR5P3	11	7846735	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	28983	7846735	127159781	5086	29037											
RIC3	79608	broad.mit.edu	37	chr11	8161632	8161632	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccacctgatcctttggccTttgcaaatgcctcggcaagg	9	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:8161632T>C	uc001mgd.2	-	2	287	c.233A>G	c.(232-234)AAG>AGG	p.K78R	RIC3_uc001mgb.2_5'Flank|RIC3_uc001mgc.2_Missense_Mutation_p.K78R|RIC3_uc001mge.2_Intron|RIC3_uc010rbl.1_Missense_Mutation_p.K28R|RIC3_uc010rbm.1_Missense_Mutation_p.K78R|RIC3_uc009yfm.2_Missense_Mutation_p.K78R|RIC3_uc009yfn.2_Intron|RIC3_uc001mgf.3_Missense_Mutation_p.K78R	NM_024557	NP_078833	Q7Z5B4	RIC3_HUMAN	resistance to inhibitors of cholinesterase 3	78	Lumenal (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				large_intestine(1)|ovary(1)|pancreas(1)	3				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TCCTTTGGCCTTTGCAAATGC	0.512													C	8161632	T	C	8161632	3	2	27	1	0	0	0	0	1	0	0	0	13354	1609	56	3	893	3	RIC3	11	8161632	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	314897	8161632	126844884	5087	29038											
LMO1	4004	broad.mit.edu	37	chr11	8251944	8251944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacttgaggcagtcttcgtGccagtacttgtccaatgcct	9	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:8251944G>A	uc001mgg.1	-	2	630	c.133C>T	c.(133-135)CAC>TAC	p.H45Y	LMO1_uc009yfo.1_RNA|LMO1_uc001mgh.1_Missense_Mutation_p.H44Y	NM_002315	NP_002306	P25800	RBTN1_HUMAN	LIM domain only 1	45	LIM zinc-binding 1.				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		CAGTCTTCGTGCCAGTACTTG	0.602			T|A	TRD@	T-ALL|neuroblastoma	neuroblastoma							A	8251944	G	A	8251944	3	1	27	1	0	0	0	0	1	0	0	0	8851	1319	46	2	349	2	LMO1	11	8251944	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	90312	8251944	126754572	5088	29039											
C11orf17	56672	broad.mit.edu	37	chr11	8940962	8940962	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggctcaaatgacttaAccaagaagactcatgtggta	10	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:8940962A>G	uc001mgx.2	+	6	644	c.568A>G	c.(568-570)ACC>GCC	p.T190A	C11orf17_uc001mgz.2_Missense_Mutation_p.T163A|C11orf17_uc001mgy.2_Missense_Mutation_p.T163A|C11orf17_uc001mha.2_Missense_Mutation_p.T190A	NM_020642	NP_065693	Q9NQ31	AKIP1_HUMAN	chromosome 11 open reading frame 17	190						nucleus	protein binding				0				Epithelial(150;5.08e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0243)		AAATGACTTAACCAAGAAGAC	0.438													G	8940962	A	G	8940962	3	3	27	1	0	0	0	0	1	0	0	0	1632	43	2	3	586	3	C11orf17	11	8940962	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	689018	8940962	126065554	5089	29040											
SCUBE2	57758	broad.mit.edu	37	chr11	9077338	9077338	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgacaggggcagtctgctcAcctccacagtgggtgaagcc	13	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:9077338A>G	uc001mhh.1	-	10	1287	c.1207_splice	c.e10+1	p.D403_splice	SCUBE2_uc001mhi.1_Splice_Site_p.D403_splice|SCUBE2_uc001mhj.1_Splice_Site_p.D403_splice	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor							extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CAGTCTGCTCACCTCCACAGT	0.572													G	9077338	A	G	9077338	5	3	27	1	0	0	0	0	0	0	1	0	13945	173	6	3	1933	3	SCUBE2	11	9077338	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	136376	9077338	125929178	5090	29041											
DENND5A	23258	broad.mit.edu	37	chr11	9191453	9191453	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttctgtgtgctgcttctgccGatctttccgcctccactggg	10	14	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:9191453G>T	uc001mhl.2	-	10	2356	c.2101C>A	c.(2101-2103)CGG>AGG	p.R701R	DENND5A_uc001mhk.2_Silent_p.R44R|DENND5A_uc010rbw.1_Silent_p.R701R|DENND5A_uc010rbx.1_RNA	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	701										liver(1)	1						TGCTTCTGCCGATCTTTCCGC	0.453													T	9191453	G	T	9191453	2	4	27	1	0	0	0	0	0	0	0	1	4436	1057	37	5		5	DENND5A	11	9191453	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	114115	9191453	125815063	5091	29042											
DENND5A	23258	broad.mit.edu	37	chr11	9225449	9225449	+	Frame_Shift_Del	DEL	G	G	-													agctctcaaggggcagtggaGggggctgaggtgaagtgact							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:9225448_9225448AG>A	uc001mhl.3	-	3	965	c.708_708CT>T	c.(706-708)cctfs	p.P236fs	DENND5A_uc010rbw.2_Frame_Shift_Del_p.P236fs|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	236	DENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGGCAGTGGAGGGGGCTGAG	0.552													-	9225449	G	-	9225449	7	5	27	1	0	1	0	1	0	0	0	0	4436	1000	35	0	3236	0	DENND5A	11	9225449	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	33996	9225449	125781067	5092	29043											
SBF2	81846	broad.mit.edu	37	chr11	9879811	9879811	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcatgattgtcttccttggCtgagagataaagggagcgaa	14	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:9879811C>A	uc001mib.2	-	18	2200	c.2062G>T	c.(2062-2064)GCC>TCC	p.A688S	SBF2_uc001mif.3_Missense_Mutation_p.A444S|uc001mig.2_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	688					myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TCTTCCTTGGCTGAGAGATAA	0.448													A	9879811	C	A	9879811	3	1	27	1	0	0	0	0	1	0	0	0	13859	797	28	5	3579	5	SBF2	11	9879811	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	654362	9879811	125126705	5093	29044											
SBF2	81846	broad.mit.edu	37	chr11	9989942	9989942	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttctattcgtgtggcaggagGtgcattctggttcttagcaa	12	7	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:9989942G>C	uc001mib.2	-	14	1684	c.1546C>G	c.(1546-1548)CCT>GCT	p.P516A	SBF2_uc001mif.3_Missense_Mutation_p.P272A|SBF2_uc001mih.3_Missense_Mutation_p.P45A	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	516					myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GTGGCAGGAGGTGCATTCTGG	0.403													C	9989942	G	C	9989942	3	2	27	1	0	0	0	0	1	0	0	0	13859	1261	44	5	4111	5	SBF2	11	9989942	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	110131	9989942	125016574	5094	29045											
LYVE1	10894	broad.mit.edu	37	chr11	10585563	10585563	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggacacccaccccatttttCccacacttggggtttgggct	9	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:10585563C>T	uc001miv.2	-	3	607	c.321G>A	c.(319-321)GGG>GGA	p.G107G	uc001miu.2_Intron|LYVE1_uc010rca.1_Intron	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor	107	Link.|Extracellular (Potential).				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|skin(1)	2				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		CCCCATTTTTCCCACACTTGG	0.463													T	10585563	C	T	10585563	2	4	27	1	0	0	0	0	0	0	0	1	9129	842	30	4		4	LYVE1	11	10585563	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	595621	10585563	124420953	5095	29046											
EIF4G2	1982	broad.mit.edu	37	chr11	10820878	10820878	+	Frame_Shift_Del	DEL	T	T	-													ttgaaagatagtagtagttgTttttcctgctctaactgttc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:10820877_10820877GT>G	uc001mjb.3	-	19	2953	c.1801_1801AC>C	c.(1801-1803)caafs	p.Q601fs	EIF4G2_uc009ygf.3_Frame_Shift_Del_p.Q807fs|EIF4G2_uc001mjc.3_Frame_Shift_Del_p.Q601fs|EIF4G2_uc001mjd.3_Frame_Shift_Del_p.Q769fs	NM_001418	NP_001409	P78344	IF4G2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 2 (EIF4G2), transcript variant 1, mRNA.	807	MI.				RNA metabolic process|cell cycle arrest|cell death|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGTAGTAGTTGTTTTTCCTGC	0.428													-	10820878	T	-	10820878	7	5	27	1	0	1	0	1	0	0	0	0	5037	1722	60	0	317	0	EIF4G2	11	10820878	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	235315	10820878	124185638	5096	29047											
EIF4G2	1982	broad.mit.edu	37	chr11	10825119	10825121	+	In_Frame_Del	DEL	TCT	TCT	-													catatctttgagttggactcTcttcttcttttccaaaagct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:10825118_10825120CTCT>C	uc001mjb.3	-	8	1254_1256	c.102_104AGAG>G	c.(100-105)aagaga>aaGa	p.R35del	EIF4G2_uc009ygf.3_In_Frame_Del_p.R241del|EIF4G2_uc001mjc.3_In_Frame_Del_p.R35del|EIF4G2_uc001mjd.3_In_Frame_Del_p.R241del|EIF4G2_uc001mjf.1_In_Frame_Del_p.R35del|SNORD97_uc009yge.3_5'Flank	NM_001418	NP_001409	P78344	IF4G2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 2 (EIF4G2), transcript variant 1, mRNA.	241					RNA metabolic process|cell cycle arrest|cell death|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GAGTTGGACTCTCTTCTTCTTTT	0.424													-	10825121	TCT	-	10825119	7	5	27	1	0	1	0	1	0	0	0	0	5037	1559	54	0	2058	0	EIF4G2	11	10825119	In_Frame_Del	DEL	TCT	TCGA-BR-6452-01A-12D-1800-08	4241	10825119	124181397	5097	29048											
USP47	55031	broad.mit.edu	37	chr11	11944340	11944340	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtagttgtcacagtgatcagAtgagcaacgatttctccaat	9	8	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:11944340A>T	uc001mjq.1	+	12	2111	c.1348A>T	c.(1348-1350)ATG>TTG	p.M450L	USP47_uc001mjr.2_Missense_Mutation_p.M362L|USP47_uc001mjs.2_Missense_Mutation_p.M430L	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	450					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			ovary(1)|skin(1)	2				Epithelial(150;0.000339)		CAGTGATCAGATGAGCAACGA	0.363													T	11944340	A	T	11944340	3	4	27	1	0	0	0	0	1	0	0	0	17075	333	12	5	1122	5	USP47	11	11944340	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1119221	11944340	123062176	5098	29049											
MICALCL	84953	broad.mit.edu	37	chr11	12315220	12315220	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccagggaaattcccctgtAtctgcctcatcacccaaagc	6	16	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:12315220A>G	uc001mkg.1	+	3	533	c.242A>G	c.(241-243)TAT>TGT	p.Y81C		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	81	Interaction with MAPK1 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)		ATTCCCCTGTATCTGCCTCAT	0.587													G	12315220	A	G	12315220	3	3	27	1	0	0	0	0	1	0	0	0	9572	449	16	3	248	3	MICALCL	11	12315220	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	370880	12315220	122691296	5099	29050											
MICALCL	84953	broad.mit.edu	37	chr11	12316135	12316135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagagaacttcccagatgCttctaagcctccaaagaaaa	7	11	1	3	rs112851920		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:12316135C>T	uc001mkg.1	+	3	1448	c.1157C>T	c.(1156-1158)GCT>GTT	p.A386V		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	386					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)		TTCCCAGATGCTTCTAAGCCT	0.453													T	12316135	C	T	12316135	3	4	27	1	0	0	0	0	1	0	0	0	9572	797	28	2	1163	2	MICALCL	11	12316135	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	915	12316135	122690381	5100	29051											
ARNTL	406	broad.mit.edu	37	chr11	13388247	13388247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagtttgtttgactacctGcatcctaaagatattgccaa	7	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:13388247G>A	uc001mkr.2	+	11	996	c.588G>A	c.(586-588)CTG>CTA	p.L196L	ARNTL_uc001mko.2_Silent_p.L153L|ARNTL_uc001mkp.2_Silent_p.L196L|ARNTL_uc001mkq.2_Silent_p.L196L|ARNTL_uc001mks.2_Silent_p.L153L|ARNTL_uc001mkt.2_Silent_p.L196L|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Silent_p.L153L|ARNTL_uc001mkv.1_Silent_p.L153L|ARNTL_uc001mkw.2_Silent_p.L153L|ARNTL_uc001mkx.2_Silent_p.L194L	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	196	PAS 1.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0				Epithelial(150;0.0243)		TTGACTACCTGCATCCTAAAG	0.453													A	13388247	G	A	13388247	2	1	27	1	0	0	0	0	0	0	0	1	967	1306	46	2		2	ARNTL	11	13388247	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1072112	13388247	121618269	5101	29052											
FAR1	84188	broad.mit.edu	37	chr11	13729544	13729544	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgcatgtatcaacagcaTatgcctactgtaatcgcaag	7	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:13729544T>C	uc001mld.2	+	4	618	c.463T>C	c.(463-465)TAT>CAT	p.Y155H	FAR1_uc009ygp.2_Missense_Mutation_p.Y155H	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	155					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			ovary(1)|skin(1)	2						ATCAACAGCATATGCCTACTG	0.393													C	13729544	T	C	13729544	3	2	27	1	0	0	0	0	1	0	0	0	5674	1406	49	3	473	3	FAR1	11	13729544	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	341297	13729544	121276972	5102	29053											
COPB1	1315	broad.mit.edu	37	chr11	14502603	14502603	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttcgtacttctaagTctggtgtgctcaatactctt	6	9	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:14502603T>C	uc001mli.2	-	9	1305	c.998A>G	c.(997-999)GAC>GGC	p.D333G	COPB1_uc001mlg.2_Missense_Mutation_p.D333G|COPB1_uc001mlh.2_Missense_Mutation_p.D333G	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	333	HEAT 5.				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2						TACTTCTAAGTCTGGTGTGCT	0.363													C	14502603	T	C	14502603	3	2	27	1	0	0	0	0	1	0	0	0	3728	1667	58	3	1919	3	COPB1	11	14502603	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	773059	14502603	120503913	5103	29054											
COPB1	1315	broad.mit.edu	37	chr11	14508019	14508019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatagatgcagcgaataaaaCgagctctttctgatggatta	9	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:14508019C>T	uc001mli.2	-	7	1038	c.731G>A	c.(730-732)CGT>CAT	p.R244H	COPB1_uc001mlg.2_Missense_Mutation_p.R244H|COPB1_uc001mlh.2_Missense_Mutation_p.R244H	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	244	HEAT 3.				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2						GCGAATAAAACGAGCTCTTTC	0.403													T	14508019	C	T	14508019	3	4	27	1	0	0	0	0	1	0	0	0	3728	536	19	1	2194	1	COPB1	11	14508019	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5416	14508019	120498497	5104	29055											
PSMA1	5682	broad.mit.edu	37	chr11	14539484	14539484	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccaactgtggctgaacctTgtttaacagcttccattgca	8	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:14539484T>C	uc001mlk.2	-	3	238	c.92A>G	c.(91-93)CAA>CGA	p.Q31R	PSMA1_uc001mll.2_Missense_Mutation_p.Q37R|PSMA1_uc010rcp.1_RNA|PSMA1_uc001mlj.2_Missense_Mutation_p.Q6R|PSMA1_uc010rcq.1_Missense_Mutation_p.Q31R	NM_002786	NP_002777	P25786	PSA1_HUMAN	proteasome alpha 1 subunit isoform 2	31					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			upper_aerodigestive_tract(1)|skin(1)	2						GGCTGAACCTTGTTTAACAGC	0.303													C	14539484	T	C	14539484	3	2	27	1	0	0	0	0	1	0	0	0	12666	1812	63	3	781	3	PSMA1	11	14539484	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	31465	14539484	120467032	5105	29056											
PDE3B	5140	broad.mit.edu	37	chr11	14808106	14808106	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctctacggagtattagtAgcttaatgggtgctttctca	9	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:14808106A>G	uc001mln.2	+	3	1506	c.1153A>G	c.(1153-1155)AGC>GGC	p.S385G	PDE3B_uc010rcr.1_Intron	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	385					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						GAGTATTAGTAGCTTAATGGG	0.448													G	14808106	A	G	14808106	3	3	27	1	0	0	0	0	1	0	0	0	11638	420	15	3	1163	3	PDE3B	11	14808106	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	268622	14808106	120198410	5106	29057											
PDE3B	5140	broad.mit.edu	37	chr11	14856574	14856574	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgctacatgcagtttggtaTctgacaacacggccagttcc	10	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:14856574T>A	uc001mln.2	+	11	2606	c.2253T>A	c.(2251-2253)TAT>TAA	p.Y751*	PDE3B_uc010rcr.1_Nonsense_Mutation_p.Y700*	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	751	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						CAGTTTGGTATCTGACAACAC	0.383													A	14856574	T	A	14856574	4	1	27	1	0	0	0	0	0	1	0	0	11638	1442	50	5	2295	5	PDE3B	11	14856574	Nonsense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	48468	14856574	120149942	5107	29058											
SOX6	55553	broad.mit.edu	37	chr11	15994527	15994527	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctctggatgaccgggaggCtgggctccgggctggccgag	19	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:15994527C>A	uc001mme.2	-	16	2387	c.2354G>T	c.(2353-2355)AGC>ATC	p.S785I	SOX6_uc001mmd.2_Missense_Mutation_p.S748I|SOX6_uc001mmf.2_Missense_Mutation_p.S745I|SOX6_uc001mmg.2_Missense_Mutation_p.S752I	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	772					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						GACCGGGAGGCTGGGCTCCGG	0.507													A	15994527	C	A	15994527	3	1	27	1	0	0	0	0	1	0	0	0	14955	797	28	5	175	5	SOX6	11	15994527	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1137953	15994527	119011989	5108	29059											
SOX6	55553	broad.mit.edu	37	chr11	16068172	16068172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatctgctctcgcatcttcCgcgcctcctgaatggctttc	9	15	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:16068172C>T	uc001mme.2	-	12	1583	c.1550G>A	c.(1549-1551)CGG>CAG	p.R517Q	SOX6_uc001mmd.2_Missense_Mutation_p.R480Q|SOX6_uc001mmf.2_Missense_Mutation_p.R477Q|SOX6_uc001mmg.2_Missense_Mutation_p.R504Q	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	504					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						TCGCATCTTCCGCGCCTCCTG	0.502													T	16068172	C	T	16068172	3	4	27	1	0	0	0	0	1	0	0	0	14955	652	23	1	995	1	SOX6	11	16068172	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	73645	16068172	118938344	5109	29060											
PIK3C2A	5286	broad.mit.edu	37	chr11	17141478	17141478	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgggtgtttgaagcaatAataacgtttctcccataaaa	7	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:17141478A>G	uc001mmq.3	-	15	2767	c.2701T>C	c.(2701-2703)TAT>CAT	p.Y901H	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.Y521H|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	901					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	TTGAAGCAATAATAACGTTTC	0.323													G	17141478	A	G	17141478	3	3	27	1	0	0	0	0	1	0	0	0	11909	362	13	3	2431	3	PIK3C2A	11	17141478	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1073306	17141478	117865038	5110	29061											
PIK3C2A	5286	broad.mit.edu	37	chr11	17156512	17156512	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgcatggagtctgagaagAtcataaattgctgcagttaa	10	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:17156512A>C	uc001mmq.3	-	10	2028	c.1962T>G	c.(1960-1962)GAT>GAG	p.D654E	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.D274E|PIK3C2A_uc001mmr.3_Intron|PIK3C2A_uc010rcx.1_Missense_Mutation_p.D654E	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	654					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	GTCTGAGAAGATCATAAATTG	0.393													C	17156512	A	C	17156512	3	2	27	1	0	0	0	0	1	0	0	0	11909	330	12	5	3190	5	PIK3C2A	11	17156512	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	15034	17156512	117850004	5111	29062											
ABCC8	6833	broad.mit.edu	37	chr11	17452414	17452414	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggacagcaggaacagcggTgtgaccaagatatggaagag	15	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:17452414T>C	uc001mnc.2	-	12	1890	c.1764A>G	c.(1762-1764)ACA>ACG	p.T588T	ABCC8_uc010rcy.1_Silent_p.T587T	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	588	Helical; Name=11; (By similarity).|ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGAACAGCGGTGTGACCAAGA	0.607													C	17452414	T	C	17452414	2	2	27	1	0	0	0	0	0	0	0	1	58	1683	59	3		3	ABCC8	11	17452414	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	295902	17452414	117554102	5112	29063											
USH1C	10083	broad.mit.edu	37	chr11	17548843	17548843	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatgggtacaggaggagatGgaatatccattgatccggac	13	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:17548843G>T	uc001mnf.2	-	5	532	c.423C>A	c.(421-423)TCC>TCA	p.S141S	USH1C_uc001mne.2_Silent_p.S141S|USH1C_uc009yhb.2_Silent_p.S141S|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Silent_p.S105S	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	harmonin isoform a	141	PDZ 1.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			ovary(1)	1						AGGAGGAGATGGAATATCCAT	0.552													T	17548843	G	T	17548843	2	4	27	1	0	0	0	0	0	0	0	1	17031	1335	47	5		5	USH1C	11	17548843	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	96429	17548843	117457673	5113	29064											
MYOD1	4654	broad.mit.edu	37	chr11	17741356	17741356	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactgtcgccaccgctccgCgacgtagacctgacggcccc	10	19	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:17741356C>T	uc001mni.2	+	1	247	c.27C>T	c.(25-27)CGC>CGT	p.R9R		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	9					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3						CACCGCTCCGCGACGTAGACC	0.652													T	17741356	C	T	17741356	2	4	27	1	0	0	0	0	0	0	0	1	10088	755	27	1		1	MYOD1	11	17741356	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	192513	17741356	117265160	5114	29065											
KCNC1	3746	broad.mit.edu	37	chr11	17757940	17757940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctcctctggacaacagcGccgacgacgcggacgccgac	13	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:17757940G>A	uc001mnk.3	+	1	446	c.391G>A	c.(391-393)GCC>ACC	p.A131T	KCNC1_uc009yhc.1_Missense_Mutation_p.A131T	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	131	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						GGACAACAGCGCCGACGACGC	0.716													A	17757940	G	A	17757940	3	1	27	1	0	0	0	0	1	0	0	0	8014	1087	38	1	393	1	KCNC1	11	17757940	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	16584	17757940	117248576	5115	29066											
KCNC1	3746	broad.mit.edu	37	chr11	17793578	17793578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgggcttcctgcgcgtcGtccgcttcgtgcgcatcttg	13	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:17793578G>A	uc001mnk.3	+	2	992	c.937G>A	c.(937-939)GTC>ATC	p.V313I	KCNC1_uc009yhc.1_Missense_Mutation_p.V313I	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	313	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						CCTGCGCGTCGTCCGCTTCGT	0.632													A	17793578	G	A	17793578	3	1	27	1	0	0	0	0	1	0	0	0	8014	1145	40	1	943	1	KCNC1	11	17793578	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	35638	17793578	117212938	5116	29067											
SPTY2D1	144108	broad.mit.edu	37	chr11	18633968	18633968	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagagtcgtattcatcatcAtcgtcatcttcctcttcata	4	12	8	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:18633968A>G	uc001moy.2	-	4	1995	c.1779T>C	c.(1777-1779)GAT>GAC	p.D593D	SPTY2D1_uc010rdi.1_Silent_p.D593D	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	593	Poly-Asp.									breast(1)	1						ATTCATCATCATCGTCATCTT	0.373													G	18633968	A	G	18633968	2	3	27	1	0	0	0	0	0	0	0	1	15125	214	8	3		3	SPTY2D1	11	18633968	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	840390	18633968	116372548	5117	29068											
IGSF22	283284	broad.mit.edu	37	chr11	18743101	18743101	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagcacgtgttccttgTtaatgctgtcgtagaatatc	8	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:18743101T>C	uc009yht.2	-	4	549	c.359A>G	c.(358-360)AAC>AGC	p.N120S	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	120	Ig-like 1.									ovary(4)|large_intestine(2)|kidney(1)	7						GTGTTCCTTGTTAATGCTGTC	0.627											OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	18743101	T	C	18743101	3	2	27	1	0	0	0	0	1	0	0	0	7600	1725	60	3	3701	3	IGSF22	11	18743101	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	109133	18743101	116263415	5118	29069											
E2F8	79733	broad.mit.edu	37	chr11	19259413	19259413	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacctacgtgtatacagtcTttggcctcaggtaatccact	7	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:19259413T>G	uc001mpm.2	-	3	804	c.282A>C	c.(280-282)AAA>AAC	p.K94N	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.K94N|E2F8_uc001mpo.1_Missense_Mutation_p.K94N	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	94					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						GTATACAGTCTTTGGCCTCAG	0.488													G	19259413	T	G	19259413	3	3	27	1	0	0	0	0	1	0	0	0	4873	1606	56	5	2365	5	E2F8	11	19259413	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	516312	19259413	115747103	5119	29070											
E2F8	79733	broad.mit.edu	37	chr11	19261660	19261660	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttataaagtaccttttcGttctccattctgtaaattcc	4	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:19261660G>A	uc001mpm.2	-	2	531	c.9C>T	c.(7-9)AAC>AAT	p.N3N	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Silent_p.N3N|E2F8_uc001mpo.1_Silent_p.N3N	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	3					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						GTACCTTTTCGTTCTCCATTC	0.318													A	19261660	G	A	19261660	2	1	27	1	0	0	0	0	0	0	0	1	4873	1136	40	1		1	E2F8	11	19261660	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2247	19261660	115744856	5120	29071											
NAV2	89797	broad.mit.edu	37	chr11	20065572	20065572	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagaggaattccctgtggTctggtgatgatgtcaagaaa	14	5	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:20065572T>C	uc010rdm.1	+	14	3383	c.3022T>C	c.(3022-3024)TCT>CCT	p.S1008P	NAV2_uc001mpp.2_Missense_Mutation_p.S921P|NAV2_uc001mpr.3_Missense_Mutation_p.S985P|NAV2_uc001mpt.2_Missense_Mutation_p.S71P|NAV2_uc009yhx.2_Missense_Mutation_p.S71P|NAV2_uc009yhy.1_5'UTR	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	1008						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						TTCCCTGTGGTCTGGTGATGA	0.532													C	20065572	T	C	20065572	3	2	27	1	0	0	0	0	1	0	0	0	10184	1667	58	3	3112	3	NAV2	11	20065572	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	803912	20065572	114940944	5121	29072											
NAV2	89797	broad.mit.edu	37	chr11	20070671	20070671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcttccactggcctcatcGcctcctccaaggacgactcc	6	18	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:20070671G>A	uc010rdm.1	+	16	4730	c.4369G>A	c.(4369-4371)GCC>ACC	p.A1457T	NAV2_uc001mpp.2_Missense_Mutation_p.A1370T|NAV2_uc001mpr.3_Missense_Mutation_p.A1434T|NAV2_uc001mpt.2_Missense_Mutation_p.A520T|NAV2_uc009yhx.2_Missense_Mutation_p.A520T|NAV2_uc009yhy.1_Missense_Mutation_p.A433T|NAV2_uc009yhz.2_Missense_Mutation_p.A116T	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	1457	Ser-rich.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						TGGCCTCATCGCCTCCTCCAA	0.557													A	20070671	G	A	20070671	3	1	27	1	0	0	0	0	1	0	0	0	10184	1087	38	1	4467	1	NAV2	11	20070671	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5099	20070671	114935845	5122	29073											
NAV2	89797	broad.mit.edu	37	chr11	20122624	20122624	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cactgggaaaacctacctggCcaaccggctgtctgagtata	10	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:20122624C>G	uc001mpr.3	+	32	6693	c.6332C>G	c.(6331-6333)GCC>GGC	p.A2111G	NAV2_uc001mpp.2_Missense_Mutation_p.A2044G|NAV2_uc009yhx.2_Missense_Mutation_p.A1172G|NAV2_uc009yhz.2_Missense_Mutation_p.A753G|NAV2_uc001mpu.2_Missense_Mutation_p.A546G	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	2167						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						ACCTACCTGGCCAACCGGCTG	0.567													G	20122624	C	G	20122624	3	3	27	1	0	0	0	0	1	0	0	0	10184	739	26	5	6567	5	NAV2	11	20122624	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	51953	20122624	114883892	5123	29074											
SLC6A5	9152	broad.mit.edu	37	chr11	20668428	20668428	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgatgattggattccagcCtaacatcttctggaaagtct	9	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:20668428C>A	uc001mqd.2	+	14	2291	c.2018C>A	c.(2017-2019)CCT>CAT	p.P673H	SLC6A5_uc009yic.2_Missense_Mutation_p.P438H	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	673					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)|skin(1)	4					Glycine(DB00145)	GGATTCCAGCCTAACATCTTC	0.428													A	20668428	C	A	20668428	3	1	27	1	0	0	0	0	1	0	0	0	14687	681	24	5	2072	5	SLC6A5	11	20668428	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	545804	20668428	114338088	5124	29075											
SLC17A6	57084	broad.mit.edu	37	chr11	22363222	22363222	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttatcgccatcatgagcggcCtgggcttctgcatctccttc	9	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:22363222C>A	uc001mqk.2	+	2	648	c.235C>A	c.(235-237)CTG>ATG	p.L79M		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	79	Helical; (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						CATGAGCGGCCTGGGCTTCTG	0.632													A	22363222	C	A	22363222	3	1	27	1	0	0	0	0	1	0	0	0	14421	680	24	5	241	5	SLC17A6	11	22363222	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1694794	22363222	112643294	5125	29076											
SLC5A12	159963	broad.mit.edu	37	chr11	26714070	26714070	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccaggtgctcagcttgtcGgagagatgaggaaaacagct	13	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:26714070G>A	uc001mra.2	-	9	1432	c.1119C>T	c.(1117-1119)TCC>TCT	p.S373S	SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Silent_p.S373S	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	373	Cytoplasmic (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)|skin(1)	2						TCAGCTTGTCGGAGAGATGAG	0.438													A	26714070	G	A	26714070	2	1	27	1	0	0	0	0	0	0	0	1	14664	1103	39	1		1	SLC5A12	11	26714070	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4350848	26714070	108292446	5126	29077											
BBOX1	8424	broad.mit.edu	37	chr11	27148839	27148839	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaaaaaatcttttctttaGgtgatgtgattacttttgat	8	3	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:27148839G>T	uc001mre.1	+	9	1372	c.1004_splice	c.e9-1	p.G335_splice	BBOX1_uc009yih.1_Splice_Site_p.G335_splice|BBOX1_uc001mrg.1_Splice_Site_p.G335_splice	NM_003986	NP_003977	O75936	BODG_HUMAN	gamma-butyrobetaine dioxygenase						carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1					Succinic acid(DB00139)|Vitamin C(DB00126)	CTTTTCTTTAGGTGATGTGAT	0.388													T	27148839	G	T	27148839	5	4	27	1	0	0	0	0	0	0	1	0	1334	1014	35	5	1029	5	BBOX1	11	27148839	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	434769	27148839	107857677	5127	29078											
LGR4	55366	broad.mit.edu	37	chr11	27395180	27395180	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagttgatttagcccattcaGgccttccgtaggaaaggaag	11	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:27395180G>T	uc001mrj.3	-	15	1782	c.1297C>A	c.(1297-1299)CTG>ATG	p.L433M	LGR4_uc001mrk.3_Missense_Mutation_p.L409M	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	leucine-rich repeat-containing G protein-coupled	433	LRR 15.|Extracellular (Potential).			L -> P (in Ref. 1; AAF68989).		integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1						AGCCCATTCAGGCCTTCCGTA	0.348													T	27395180	G	T	27395180	3	4	27	1	0	0	0	0	1	0	0	0	8756	991	35	5	1574	5	LGR4	11	27395180	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	246341	27395180	107611336	5128	29079											
DNAJC24	120526	broad.mit.edu	37	chr11	31436468	31436468	+	Frame_Shift_Del	DEL	A	A	-													attctaggaaatgaagagacAaaaagagagtatgacctgca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:31436467_31436467CA>C	uc001msx.3	+	2	337	c.221_221CA>C	c.(220-222)acafs	p.T74fs	DNAJC24_uc001msw.1_Frame_Shift_Del_p.T73fs|DNAJC24_uc009yjm.3_Frame_Shift_Del_p.T73fs	NM_181706	NP_859057	Q6P3W2	DJC24_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 24 (DNAJC24), mRNA.	73	J.				protein folding		heat shock protein binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|skin(1)|upper_aerodigestive_tract(2)	11						AATGAAGAGACAAAAAGAGAG	0.458													-	31436468	A	-	31436468	7	5	27	1	0	1	0	1	0	0	0	0	4642	117	5	0	228	0	DNAJC24	11	31436468	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	4041288	31436468	103570048	5129	29080											
EIF3M	10480	broad.mit.edu	37	chr11	32610169	32610169	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgatgaacagtgtggtaTccctactcttgatcctggaa	11	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:32610169T>A	uc001mtu.2	+	3	248	c.205T>A	c.(205-207)TCC>ACC	p.S69T	EIF3M_uc010ref.1_Intron	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3,	69						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)|breast(1)|skin(1)	3	Breast(20;0.109)					CAGTGTGGTATCCCTACTCTT	0.408													A	32610169	T	A	32610169	3	1	27	1	0	0	0	0	1	0	0	0	5023	1435	50	5	215	5	EIF3M	11	32610169	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1173701	32610169	102396347	5130	29081											
CCDC73	493860	broad.mit.edu	37	chr11	32635181	32635181	+	Frame_Shift_Del	DEL	T	T	-													gtatactggagttttctcagTttttttatctgaagttgaaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:32635180_32635180GT>G	uc001mtv.3	-	15	2728	c.2684_2684AC>C	c.(2683-2685)actfs	p.T895fs		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	895								p.T895T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AGTTTTCTCAGTTTTTTTATC	0.403													-	32635181	T	-	32635181	7	5	27	1	0	1	0	1	0	0	0	0	2846	1725	60	0	568	0	CCDC73	11	32635181	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	25012	32635181	102371335	5131	29082											
QSER1	79832	broad.mit.edu	37	chr11	32954606	32954606	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctaacattaacagccccttCtctttcttattcttctgcct	2	15	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:32954606C>A	uc001mty.2	+	4	1682	c.1415C>A	c.(1414-1416)TCT>TAT	p.S472Y	QSER1_uc001mtz.1_Intron|QSER1_uc001mua.2_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	472	Ser-rich.									ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					ACAGCCCCTTCTCTTTCTTAT	0.423													A	32954606	C	A	32954606	3	1	27	1	0	0	0	0	1	0	0	0	12882	913	32	5	1421	5	QSER1	11	32954606	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	319425	32954606	102051910	5132	29083											
CSTF3	1479	broad.mit.edu	37	chr11	33124703	33124704	+	Frame_Shift_Ins	INS	-	-	T													ctactccgatcttcaatcatINSttttttagctaaatgaatat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:33124702_33124703A>AT	uc001muh.3	-	8	779_780	c.613_614T>AT	c.(613-615)atgfs	p.M205fs	TCP11L1_uc001muf.1_Intron	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa (CSTF3), transcript variant 1, mRNA.	205					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ATCTTCAATCATTTTTTTAGCT	0.252													T	33124704	-	T	33124703	7	5	27	1	0	1	1	0	0	0	0	0	3986	1493	52	0	1592	0	CSTF3	11	33124703	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	170097	33124703	101881813	5133	29084											
HIPK3	10114	broad.mit.edu	37	chr11	33370762	33370762	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcggatgtgttcattaagTagtcctgatagtactctgag	11	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:33370762T>C	uc001mul.1	+	14	3006	c.2736T>C	c.(2734-2736)AGT>AGC	p.S912S	HIPK3_uc001mum.1_Silent_p.S891S|HIPK3_uc009yjv.1_Silent_p.S891S	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	912	SUMO interaction motifs (SIM); required for nuclear localization and kinase activity (By similarity).|Ser-rich.|Required for localization to nuclear speckles (By similarity).|Interaction with AR (By similarity).				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						GTTCATTAAGTAGTCCTGATA	0.428													C	33370762	T	C	33370762	2	2	27	1	0	0	0	0	0	0	0	1	7118	1635	57	3		3	HIPK3	11	33370762	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	246059	33370762	101635754	5134	29085											
C11orf41	25758	broad.mit.edu	37	chr11	33566723	33566723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaacctggagatgcccAgagcatccacgccacgccca	8	19	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:33566723A>G	uc001mup.3	+	2	2435	c.2311A>G	c.(2311-2313)AGA>GGA	p.R771G	C11orf41_uc001mun.1_Missense_Mutation_p.R771G	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	765						integral to membrane				ovary(2)	2						GGAGATGCCCAGAGCATCCAC	0.597													G	33566723	A	G	33566723	3	3	27	1	0	0	0	0	1	0	0	0	1640	180	7	3	2317	3	C11orf41	11	33566723	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	195961	33566723	101439793	5135	29086											
C11orf41	25758	broad.mit.edu	37	chr11	33581342	33581342	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagtcaccttggtgtacgtCgtgggcaatcagagcacatt	12	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:33581342C>T	uc001mup.3	+	6	3154	c.3030C>T	c.(3028-3030)GTC>GTT	p.V1010V	C11orf41_uc001mun.1_Silent_p.V1010V	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1004						integral to membrane				ovary(2)	2						TGGTGTACGTCGTGGGCAATC	0.582													T	33581342	C	T	33581342	2	4	27	1	0	0	0	0	0	0	0	1	1640	871	31	1		1	C11orf41	11	33581342	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	14619	33581342	101425174	5136	29087											
C11orf41	25758	broad.mit.edu	37	chr11	33628237	33628237	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctatttgacaactccagcAaggtggccgctgaacccttt	8	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:33628237A>G	uc001mup.3	+	13	4181	c.4057A>G	c.(4057-4059)AAG>GAG	p.K1353E		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1347						integral to membrane				ovary(2)	2						CAACTCCAGCAAGGTGGCCGC	0.542													G	33628237	A	G	33628237	3	3	27	1	0	0	0	0	1	0	0	0	1640	131	5	3	4107	3	C11orf41	11	33628237	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	46895	33628237	101378279	5137	29088											
NAT10	55226	broad.mit.edu	37	chr11	34144031	34144031	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agctgtcttgaaatttatcgAgggcatctctgaaaagaccc	9	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:34144031A>T	uc001mvk.2	+	9	1050	c.806A>T	c.(805-807)GAG>GTG	p.E269V	NAT10_uc010ren.1_Missense_Mutation_p.E197V	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 isoform a	269						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				AAATTTATCGAGGGCATCTCT	0.502													T	34144031	A	T	34144031	3	4	27	1	0	0	0	0	1	0	0	0	10174	304	11	5	836	5	NAT10	11	34144031	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	515794	34144031	100862485	5138	29089											
CAT	847	broad.mit.edu	37	chr11	34472556	34472556	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcctttggctactttgaggTcacacatgacattaccaaat	8	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:34472556T>A	uc001mvm.2	+	3	343	c.260T>A	c.(259-261)GTC>GAC	p.V87D	CAT_uc009ykc.1_RNA	NM_001752	NP_001743	P04040	CATA_HUMAN	catalase	87					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TACTTTGAGGTCACACATGAC	0.458													A	34472556	T	A	34472556	3	1	27	1	0	0	0	0	1	0	0	0	2686	1667	58	5	270	5	CAT	11	34472556	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	328525	34472556	100533960	5139	29090											
APIP	51074	broad.mit.edu	37	chr11	34905014	34905014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggtctttctcctcaggtgTattctcaataatgggtacca	9	9	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:34905014T>C	uc001mvs.2	-	6	607	c.499A>G	c.(499-501)ACA>GCA	p.T167A	APIP_uc010reo.1_Missense_Mutation_p.T184A	NM_015957	NP_057041	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	167					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity				0	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			TCCTCAGGTGTATTCTCAATA	0.373													C	34905014	T	C	34905014	3	2	27	1	0	0	0	0	1	0	0	0	774	1638	57	3	237	3	APIP	11	34905014	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	432458	34905014	100101502	5140	29091											
PDHX	8050	broad.mit.edu	37	chr11	34988311	34988311	+	Frame_Shift_Del	DEL	C	C	-													ccacagctggaccatcttatCcccggcctgtgatcccacca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:34988310_34988310TC>T	uc001mvt.3	+	5	1291	c.765_765TC>T	c.(763-765)tatfs	p.Y255fs	PDHX_uc010rep.2_Frame_Shift_Del_p.Y240fs|PDHX_uc010req.2_Intron	NM_003477	NP_003468	O00330	ODPX_HUMAN	Homo sapiens pyruvate dehydrogenase complex, component X (PDHX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	255					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			GACCATCTTATCCCCGGCCTG	0.498													-	34988311	C	-	34988311	7	5	27	1	0	1	0	1	0	0	0	0	11667	855	30	0	907	0	PDHX	11	34988311	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	83297	34988311	100018205	5141	29092											
CD44	960	broad.mit.edu	37	chr11	35198138	35198138	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagatttgaatataacctgCcgctttgcaggtgtattcca	8	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:35198138C>T	uc001mvu.2	+	2	518	c.84C>T	c.(82-84)TGC>TGT	p.C28C	CD44_uc001mvv.2_Silent_p.C28C|CD44_uc001mvw.2_Silent_p.C28C|CD44_uc001mvx.2_Silent_p.C28C|CD44_uc001mvy.2_Silent_p.C28C|CD44_uc001mwc.3_Silent_p.C28C|CD44_uc010rer.1_Silent_p.C28C|CD44_uc009ykh.2_RNA	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	28	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			pancreas(1)	1	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	ATATAACCTGCCGCTTTGCAG	0.428													T	35198138	C	T	35198138	2	4	27	1	0	0	0	0	0	0	0	1	3017	747	26	2		2	CD44	11	35198138	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	209827	35198138	99808378	5142	29093											
PAMR1	25891	broad.mit.edu	37	chr11	35456166	35456166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgaccttccccaggtcaGtaacacagtgggcagccacc	11	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:35456166G>A	uc001mwg.2	-	10	1563	c.1520C>T	c.(1519-1521)ACT>ATT	p.T507I	PAMR1_uc001mwf.2_Missense_Mutation_p.T524I|PAMR1_uc010rew.1_Missense_Mutation_p.T396I|PAMR1_uc010rex.1_Missense_Mutation_p.T467I	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	507	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						CCCCAGGTCAGTAACACAGTG	0.567													A	35456166	G	A	35456166	3	1	27	1	0	0	0	0	1	0	0	0	11413	1029	36	4	650	4	PAMR1	11	35456166	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	258028	35456166	99550350	5143	29094											
PAMR1	25891	broad.mit.edu	37	chr11	35513631	35513631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcctgctcggcactctGcacagtagaaccccttcaca	7	17	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:35513631G>A	uc001mwg.2	-	3	384	c.341C>T	c.(340-342)GCA>GTA	p.A114V	PAMR1_uc001mwf.2_Missense_Mutation_p.A114V|PAMR1_uc010rew.1_Missense_Mutation_p.A114V|PAMR1_uc010rex.1_Missense_Mutation_p.A74V	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	114					proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						TCGGCACTCTGCACAGTAGAA	0.493													A	35513631	G	A	35513631	3	1	27	1	0	0	0	0	1	0	0	0	11413	1319	46	2	1912	2	PAMR1	11	35513631	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	57465	35513631	99492885	5144	29095											
TRIM44	54765	broad.mit.edu	37	chr11	35747662	35747662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgactcagatggcccaagCcaaggaacaacttgatacct	9	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:35747662C>T	uc001mwi.2	+	3	1245	c.938C>T	c.(937-939)GCC>GTC	p.A313V		NM_017583	NP_060053	Q96DX7	TRI44_HUMAN	DIPB protein	313	Potential.					intracellular	protein binding|zinc ion binding			skin(1)	1	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				ATGGCCCAAGCCAAGGAACAA	0.458													T	35747662	C	T	35747662	3	4	27	1	0	0	0	0	1	0	0	0	16516	739	26	2	948	2	TRIM44	11	35747662	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	234031	35747662	99258854	5145	29096											
TRAF6	7189	broad.mit.edu	37	chr11	36516539	36516539	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataatacctgttctctgatgAgtatagtattgcagtattca	7	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:36516539A>G	uc001mwr.1	-	6	1005	c.665T>C	c.(664-666)CTC>CCC	p.L222P	TRAF6_uc001mws.1_Missense_Mutation_p.L222P	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6	222	Interaction with TAX1BP1.|TRAF-type 2.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)				TTCTCTGATGAGTATAGTATT	0.264													G	36516539	A	G	36516539	3	3	27	1	0	0	0	0	1	0	0	0	16442	304	11	3	915	3	TRAF6	11	36516539	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	768877	36516539	98489977	5146	29097											
RAG1	5896	broad.mit.edu	37	chr11	36597940	36597940	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagcttaggggacccatTaggcatagaggactctctgg	14	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:36597940T>C	uc001mwu.3	+	2	3210	c.3086T>C	c.(3085-3087)TTA>TCA	p.L1029S	RAG1_uc001mwt.2_Intron	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	1029					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				GGGGACCCATTAGGCATAGAG	0.428									Familial_Hemophagocytic_Lymphohistiocytosis				C	36597940	T	C	36597940	3	2	27	1	0	0	0	0	1	0	0	0	13003	1764	61	3	3088	3	RAG1	11	36597940	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	81401	36597940	98408576	5147	29098											
TTC17	55761	broad.mit.edu	37	chr11	43413401	43413401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagagttaatctttctgcaCctctgctacctaaagaagac	7	10	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:43413401C>T	uc001mxi.2	+	5	576	c.562C>T	c.(562-564)CCT>TCT	p.P188S	TTC17_uc001mxh.2_Missense_Mutation_p.P188S|TTC17_uc010rfj.1_Missense_Mutation_p.P131S	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	188							binding			ovary(5)	5						TCTTTCTGCACCTCTGCTACC	0.363													T	43413401	C	T	43413401	3	4	27	1	0	0	0	0	1	0	0	0	16681	507	18	4	580	4	TTC17	11	43413401	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6815461	43413401	91593115	5148	29099											
ACCS	84680	broad.mit.edu	37	chr11	44104792	44104792	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacacctatgtctcagaagaGcttagggcattggggatccc	11	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:44104792G>T	uc009yks.1	+	13	1329	c.1185G>T	c.(1183-1185)GAG>GAT	p.E395D	EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.E395D	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase	395							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4						TCTCAGAAGAGCTTAGGGCAT	0.557													T	44104792	G	T	44104792	3	4	27	1	0	0	0	0	1	0	0	0	133	962	34	5	1231	5	ACCS	11	44104792	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	691391	44104792	90901724	5149	29100											
EXT2	2132	broad.mit.edu	37	chr11	44129625	44129625	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgactttggcgtctcTgtcagcaacaccatctcccg	10	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:44129625T>C	uc001mxz.2	+	2	697	c.363T>C	c.(361-363)TCT>TCC	p.S121S	EXT2_uc010rfo.1_Silent_p.S149S|EXT2_uc001mxy.2_Silent_p.S134S|EXT2_uc009ykt.2_Silent_p.S121S|EXT2_uc001mya.2_Silent_p.S154S	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	121	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			lung(2)|breast(2)|skin(1)	5						TTGGCGTCTCTGTCAGCAACA	0.458			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses				C	44129625	T	C	44129625	2	2	27	1	0	0	0	0	0	0	0	1	5324	1567	55	3		3	EXT2	11	44129625	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	24833	44129625	90876891	5150	29101											
PRDM11	56981	broad.mit.edu	37	chr11	45204461	45204462	+	Frame_Shift_Ins	INS	-	-	C													atgaatgcccaaaccatggcINScccccggtgtttgtgtctga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:45204460_45204461G>GC	uc001myo.3	+	4	623_624	c.374_375G>GC	c.(373-375)ggcfs	p.G125fs		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	125								p.G125G(2)		endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCAAACCATGGCCCCCCGGTGT	0.604													C	45204462	-	C	45204461	7	5	27	1	0	1	1	0	0	0	0	0	12452	726	26	0	389	0	PRDM11	11	45204461	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	1074836	45204461	89802055	5151	29102											
PRDM11	56981	broad.mit.edu	37	chr11	45246062	45246062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacgcctacagtcagtgtgCaacaacaatgacccatggtg	10	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:45246062C>T	uc001myo.2	+	8	1388	c.1139C>T	c.(1138-1140)GCA>GTA	p.A380V		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	PR domain containing 11	380										upper_aerodigestive_tract(1)	1						AGTCAGTGTGCAACAACAATG	0.582													T	45246062	C	T	45246062	3	4	27	1	0	0	0	0	1	0	0	0	12452	710	25	2	1165	2	PRDM11	11	45246062	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	41601	45246062	89760454	5152	29103											
SYT13	57586	broad.mit.edu	37	chr11	45265608	45265608	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctgggcagctggttacaGgtgcagctggtgccacatgg	16	10	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:45265608G>T	uc001myq.2	-	6	1402	c.1276C>A	c.(1276-1278)CTG>ATG	p.L426M	SYT13_uc009yku.1_Missense_Mutation_p.L282M	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	426	Cytoplasmic (Potential).					transport vesicle				ovary(1)	1						GCTGGTTACAGGTGCAGCTGG	0.617													T	45265608	G	T	45265608	3	4	27	1	0	0	0	0	1	0	0	0	15466	991	35	5	8	5	SYT13	11	45265608	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	19546	45265608	89740908	5153	29104											
CHST1	8534	broad.mit.edu	37	chr11	45671505	45671505	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggccacgtggctgtccagCgggatgcccaggaacccgta	15	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:45671505C>T	uc001mys.1	-	4	1640	c.969G>A	c.(967-969)CCG>CCA	p.P323P		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	323	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGCTGTCCAGCGGGATGCCCA	0.642													T	45671505	C	T	45671505	2	4	27	1	0	0	0	0	0	0	0	1	3397	755	27	1		1	CHST1	11	45671505	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	405897	45671505	89335011	5154	29105											
PEX16	9409	broad.mit.edu	37	chr11	45935936	45935936	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccccaggggggtgggggTcgcactcagctcctcgtgat	16	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:45935936T>C	uc001nbu.2	-	7	937	c.625A>G	c.(625-627)ACC>GCC	p.T209A	PEX16_uc001nbt.2_Missense_Mutation_p.T209A	NM_004813	NP_004804	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16 isoform 1	209	Cytoplasmic (Potential).				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			ovary(2)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.223)		GGGGTGGGGGTCGCACTCAGC	0.667													C	45935936	T	C	45935936	3	2	27	1	0	0	0	0	1	0	0	0	11743	1667	58	3	498	3	PEX16	11	45935936	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	264431	45935936	89070580	5155	29106											
GYLTL1B	120071	broad.mit.edu	37	chr11	45948298	45948298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacaactggacgaggaagacCcctgctttgagttccggcag	12	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:45948298C>A	uc001nbv.1	+	10	1312	c.1201C>A	c.(1201-1203)CCC>ACC	p.P401T	GYLTL1B_uc001nbw.1_Missense_Mutation_p.P370T|GYLTL1B_uc001nbx.1_Missense_Mutation_p.P401T|GYLTL1B_uc001nby.1_Missense_Mutation_p.P84T|GYLTL1B_uc001nbz.1_5'Flank	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	401	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)		CGAGGAAGACCCCTGCTTTGA	0.627													A	45948298	C	A	45948298	3	1	27	1	0	0	0	0	1	0	0	0	6907	623	22	5	1235	5	GYLTL1B	11	45948298	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	12362	45948298	89058218	5156	29107											
CKAP5	9793	broad.mit.edu	37	chr11	46780899	46780899	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcatttcacatcggactgtAccattgtcattctcaatctc	6	12	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:46780899A>G	uc001ndi.1	-	34	4598	c.4488T>C	c.(4486-4488)GGT>GGC	p.G1496G	CKAP5_uc009ylg.1_Silent_p.G1382G|CKAP5_uc001ndj.1_Silent_p.G1496G|CKAP5_uc001ndh.1_Silent_p.G425G	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	1496					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						ATCGGACTGTACCATTGTCAT	0.478													G	46780899	A	G	46780899	2	3	27	1	0	0	0	0	0	0	0	1	3445	378	14	3		3	CKAP5	11	46780899	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	832601	46780899	88225617	5157	29108											
CKAP5	9793	broad.mit.edu	37	chr11	46832565	46832565	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttgtctcacctgaacagAgtttatattttgtaatgggg	9	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:46832565A>C	uc001ndi.1	-	5	732	c.622T>G	c.(622-624)TCT>GCT	p.S208A	CKAP5_uc009ylg.1_Missense_Mutation_p.S94A|CKAP5_uc001ndj.1_Missense_Mutation_p.S208A	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	208					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						ACCTGAACAGAGTTTATATTT	0.378													C	46832565	A	C	46832565	3	2	27	1	0	0	0	0	1	0	0	0	3445	304	11	5	5636	5	CKAP5	11	46832565	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	51666	46832565	88173951	5158	29109											
MADD	8567	broad.mit.edu	37	chr11	47296132	47296132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcacccgagcagtgatagCgtggcccagactcctgaatt	12	12	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:47296132C>T	uc001ner.1	+	3	272	c.81C>T	c.(79-81)AGC>AGT	p.S27S	MADD_uc001neq.2_Silent_p.S27S|MADD_uc001nev.1_Silent_p.S27S|MADD_uc001nes.1_Silent_p.S27S|MADD_uc001net.1_Silent_p.S27S|MADD_uc009yln.1_Silent_p.S27S|MADD_uc001neu.1_Silent_p.S27S|MADD_uc001nex.2_Silent_p.S27S|MADD_uc001nez.2_Silent_p.S27S|MADD_uc001new.2_Silent_p.S27S	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	27	UDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		GCAGTGATAGCGTGGCCCAGA	0.507													T	47296132	C	T	47296132	2	4	27	1	0	0	0	0	0	0	0	1	9152	767	27	1		1	MADD	11	47296132	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	463567	47296132	87710384	5159	29110											
MYBPC3	4607	broad.mit.edu	37	chr11	47371349	47371349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcgcggtcgtagctgtcGtgcagctgcaggtgctggcc	17	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:47371349G>A	uc001nfa.3	-	5	685	c.630C>T	c.(628-630)CAC>CAT	p.H210H		NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	210	Ig-like C2-type 1.	Zinc.			cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		CGTAGCTGTCGTGCAGCTGCA	0.657													A	47371349	G	A	47371349	2	1	27	1	0	0	0	0	0	0	0	1	10013	1136	40	1		1	MYBPC3	11	47371349	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	75217	47371349	87635167	5160	29111											
PSMC3	5702	broad.mit.edu	37	chr11	47444219	47444219	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcccggactagcttggcacCatctccaatgaacatctgca	7	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:47444219C>A	uc001nfh.2	-	8	984	c.790G>T	c.(790-792)GGT>TGT	p.G264C	PSMC3_uc009ylr.1_Missense_Mutation_p.G222C	NM_002804	NP_002795	P17980	PRS6A_HUMAN	proteasome 26S ATPase subunit 3	264					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			ovary(4)	4				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AGCTTGGCACCATCTCCAATG	0.557													A	47444219	C	A	47444219	3	1	27	1	0	0	0	0	1	0	0	0	12687	594	21	5	549	5	PSMC3	11	47444219	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	72870	47444219	87562297	5161	29112											
RAPSN	5913	broad.mit.edu	37	chr11	47464237	47464237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccatggcactgcccaggcGgcccagcaggcgataggcca	13	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:47464237G>A	uc001nfi.1	-	3	875	c.661C>T	c.(661-663)CGC>TGC	p.R221C	RAPSN_uc001nfj.1_Missense_Mutation_p.R221C|RAPSN_uc009yls.1_Missense_Mutation_p.R221C	NM_005055	NP_005046	Q13702	RAPSN_HUMAN	43 kD receptor-associated protein of the synapse	221	TPR 5.				synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			ovary(1)	1						CTGCCCAGGCGGCCCAGCAGG	0.662													A	47464237	G	A	47464237	3	1	27	1	0	0	0	0	1	0	0	0	13051	1116	39	1	601	1	RAPSN	11	47464237	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	20018	47464237	87542279	5162	29113											
CELF1	10658	broad.mit.edu	37	chr11	47504275	47504275	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actggggtccaagagtatttAgaccagcaaggtttccccac	10	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:47504275A>C	uc001nfl.2	-	6	669	c.659T>G	c.(658-660)CTA>CGA	p.L220R	CELF1_uc001nfm.2_Missense_Mutation_p.L220R|CELF1_uc001nfn.2_Missense_Mutation_p.L220R|CELF1_uc001nfo.1_Missense_Mutation_p.L246R|CELF1_uc010rhm.1_Missense_Mutation_p.L219R|CELF1_uc001nfp.2_Missense_Mutation_p.L247R|CELF1_uc001nfq.1_Missense_Mutation_p.L220R|CELF1_uc001nfr.1_Missense_Mutation_p.L220R	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	CUG triplet repeat, RNA-binding protein 1	220					embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|ovary(1)	3						AAGAGTATTTAGACCAGCAAG	0.507													C	47504275	A	C	47504275	3	2	27	1	0	0	0	0	1	0	0	0	3215	420	15	5	832	5	CELF1	11	47504275	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	40038	47504275	87502241	5163	29114											
MTCH2	23788	broad.mit.edu	37	chr11	47648651	47648651	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgtgacagcttgagaaTaactcttcatttcattcatg	6	10	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:47648651T>C	uc010rho.1	-	10	851	c.662A>G	c.(661-663)TAT>TGT	p.Y221C	MTCH2_uc001nge.2_Missense_Mutation_p.Y94C|MTCH2_uc010rhp.1_Missense_Mutation_p.Y73C	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	221					transport	integral to membrane|mitochondrial inner membrane					0						AGCTTGAGAATAACTCTTCAT	0.303													C	47648651	T	C	47648651	3	2	27	1	0	0	0	0	1	0	0	0	9914	1406	49	3	265	3	MTCH2	11	47648651	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	144376	47648651	87357865	5164	29115											
AGBL2	79841	broad.mit.edu	37	chr11	47736193	47736193	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttaggtgcgtttccaaagCtgggaacatgttacttctgg	11	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:47736193C>A	uc001ngg.2	-	1	110	c.10G>T	c.(10-12)GCT>TCT	p.A4S	AGBL2_uc010rhq.1_Missense_Mutation_p.A4S|AGBL2_uc001ngh.1_Missense_Mutation_p.A4S	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	4					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						GTTTCCAAAGCTGGGAACATG	0.468													A	47736193	C	A	47736193	3	1	27	1	0	0	0	0	1	0	0	0	376	797	28	5	2770	5	AGBL2	11	47736193	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	87542	47736193	87270323	5165	29116											
FNBP4	23360	broad.mit.edu	37	chr11	47754182	47754182	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagttttcgtttaaggtagTttccattaagagccccttcc	8	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:47754182T>C	uc009ylv.2	-	11	1880	c.1727A>G	c.(1726-1728)AAC>AGC	p.N576S	FNBP4_uc001ngj.2_Missense_Mutation_p.N483S|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	576										ovary(1)	1						TTTAAGGTAGTTTCCATTAAG	0.428													C	47754182	T	C	47754182	3	2	27	1	0	0	0	0	1	0	0	0	5967	1725	60	3	1354	3	FNBP4	11	47754182	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	17989	47754182	87252334	5166	29117											
FNBP4	23360	broad.mit.edu	37	chr11	47754208	47754208	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaagagccccttcccgccaGtctgcaattcgagtctagaa	8	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:47754208G>A	uc009ylv.2	-	11	1854	c.1701C>T	c.(1699-1701)GAC>GAT	p.D567D	FNBP4_uc001ngj.2_Silent_p.D474D|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	567										ovary(1)	1						CTTCCCGCCAGTCTGCAATTC	0.403													A	47754208	G	A	47754208	2	1	27	1	0	0	0	0	0	0	0	1	5967	1020	36	4		4	FNBP4	11	47754208	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	26	47754208	87252308	5167	29118											
PTPRJ	5795	broad.mit.edu	37	chr11	48131619	48131619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtttcagatcctgtgcGcaggtggcagtgagtaccct	12	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:48131619G>A	uc001ngp.3	+	2	461	c.106G>A	c.(106-108)GCA>ACA	p.A36T	PTPRJ_uc001ngo.3_Missense_Mutation_p.A36T	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	36	Extracellular (Potential).				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						GATCCTGTGCGCAGGTGGCAG	0.413											OREG0020960	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	48131619	G	A	48131619	3	1	27	1	0	0	0	0	1	0	0	0	12804	1087	38	1	112	1	PTPRJ	11	48131619	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	377411	48131619	86874897	5168	29119											
PTPRJ	5795	broad.mit.edu	37	chr11	48146565	48146565	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagggagccccaccgcccCtgtgcatgatgagtccctcg	13	16	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:48146565C>A	uc001ngp.3	+	6	1275	c.920C>A	c.(919-921)CCT>CAT	p.P307H	PTPRJ_uc001ngo.3_Missense_Mutation_p.P307H	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	307	Extracellular (Potential).|Fibronectin type-III 3.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						CCCACCGCCCCTGTGCATGAT	0.602													A	48146565	C	A	48146565	3	1	27	1	0	0	0	0	1	0	0	0	12804	681	24	5	942	5	PTPRJ	11	48146565	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	14946	48146565	86859951	5169	29120											
PTPRJ	5795	broad.mit.edu	37	chr11	48166633	48166633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctgagagctatgtgtcCttcagtcgctactcagatgc	13	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:48166633C>T	uc001ngp.3	+	14	3223	c.2868C>T	c.(2866-2868)TCC>TCT	p.S956S		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	956	Extracellular (Potential).				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						GCTATGTGTCCTTCAGTCGCT	0.532													T	48166633	C	T	48166633	2	4	27	1	0	0	0	0	0	0	0	1	12804	668	24	4		4	PTPRJ	11	48166633	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	20068	48166633	86839883	5170	29121											
PTPRJ	5795	broad.mit.edu	37	chr11	48185166	48185166	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcgccgattctggtgcatTgcaggtacgcagatggcacg	13	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:48185166T>C	uc001ngp.3	+	23	4070	c.3715T>C	c.(3715-3717)TGC>CGC	p.C1239R		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1239	Tyrosine-protein phosphatase.|Substrate binding (By similarity).|Cytoplasmic (Potential).	Phosphocysteine intermediate (By similarity).		C->S: Catalytically inactive and substrate trapping with higher affinity for substrate.	contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						TCTGGTGCATTGCAGGTACGC	0.418													C	48185166	T	C	48185166	3	2	27	1	0	0	0	0	1	0	0	0	12804	1812	63	3	3814	3	PTPRJ	11	48185166	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	18533	48185166	86821350	5171	29122											
OR4S1	256148	broad.mit.edu	37	chr11	48328111	48328111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcactgagatcttcctcCttacagccatggcctatgac	9	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:48328111C>T	uc010rhu.1	+	1	337	c.337C>T	c.(337-339)CTT>TTT	p.L113F		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S,	113	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GATCTTCCTCCTTACAGCCAT	0.542													T	48328111	C	T	48328111	3	4	27	1	0	0	0	0	1	0	0	0	11082	681	24	4	339	4	OR4S1	11	48328111	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	142945	48328111	86678405	5172	29123											
OR4C3	256144	broad.mit.edu	37	chr11	48346544	48346544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctttataggcaatactGcacctgcattctcagtgacc	7	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:48346544G>A	uc010rhv.1	+	1	52	c.52G>A	c.(52-54)GCA>ACA	p.A18T		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C,	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AGGCAATACTGCACCTGCATT	0.383													A	48346544	G	A	48346544	3	1	27	1	0	0	0	0	1	0	0	0	11050	1319	46	2	54	2	OR4C3	11	48346544	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	18433	48346544	86659972	5173	29124											
FOLH1	2346	broad.mit.edu	37	chr11	49168405	49168405	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaggccttggaagggtccActttgctttcaatatcaaac	8	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:49168405A>G	uc001ngy.2	-	19	2417	c.2156T>C	c.(2155-2157)GTG>GCG	p.V719A	FOLH1_uc001ngx.2_Missense_Mutation_p.W119R|FOLH1_uc001ngz.2_Missense_Mutation_p.V688A|FOLH1_uc009yly.2_Missense_Mutation_p.V704A|FOLH1_uc009ylz.2_Missense_Mutation_p.V673A|FOLH1_uc009yma.2_Missense_Mutation_p.V411A	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	719	Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GGAAGGGTCCACTTTGCTTTC	0.473													G	49168405	A	G	49168405	3	3	27	1	0	0	0	0	1	0	0	0	5979	159	6	3	100	3	FOLH1	11	49168405	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	821861	49168405	85838111	5174	29125											
OR4C13	283092	broad.mit.edu	37	chr11	49974337	49974337	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaatggcctatgaccactaTgtggccatctgcaagccctt	9	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:49974337T>C	uc010rhz.1	+	1	363	c.363T>C	c.(361-363)TAT>TAC	p.Y121Y		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	121	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						ATGACCACTATGTGGCCATCT	0.448													C	49974337	T	C	49974337	2	2	27	1	0	0	0	0	0	0	0	1	11047	1471	51	3		3	OR4C13	11	49974337	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	805932	49974337	85032179	5175	29126											
OR4A5	81318	broad.mit.edu	37	chr11	51412149	51412149	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctttttatcacagaataAgcctacaattaacttgggag	7	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:51412149A>C	uc001nhi.1	-	1	247	c.247T>G	c.(247-249)TTA>GTA	p.L83V		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	83	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				TCACAGAATAAGCCTACAATT	0.438													C	51412149	A	C	51412149	3	2	27	1	0	0	0	0	1	0	0	0	11043	69	3	5	704	5	OR4A5	11	51412149	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1437812	51412149	83594367	5176	29127											
OR4A5	81318	broad.mit.edu	37	chr11	51412388	51412388	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attctgtaatattgttattcTgtctcatttactcttcttta	3	7	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:51412388T>C	uc001nhi.1	-	1	8	c.8A>G	c.(7-9)CAG>CGG	p.Q3R		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	3	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				ATTGTTATTCTGTCTCATTTA	0.388													C	51412388	T	C	51412388	3	2	27	1	0	0	0	0	1	0	0	0	11043	1580	55	3	943	3	OR4A5	11	51412388	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	239	51412388	83594128	5177	29128											
OR4C16	219428	broad.mit.edu	37	chr11	55339641	55339641	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtgactgagttcattctgcTtggattgacacaggatcctt	10	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:55339641T>A	uc010rih.1	+	1	38	c.38T>A	c.(37-39)CTT>CAT	p.L13H		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	13	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)				TTCATTCTGCTTGGATTGACA	0.368													A	55339641	T	A	55339641	3	1	27	1	0	0	0	0	1	0	0	0	11049	1609	56	5	40	5	OR4C16	11	55339641	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3927253	55339641	79666875	5178	29129											
OR4C6	219432	broad.mit.edu	37	chr11	55432731	55432731	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatattttctgctgtgtttcTtgtcatgtatgtagccacag	8	7	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:55432731T>G	uc001nht.3	+	3	354	c.89T>G	c.(88-90)CTT>CGT	p.L30R	OR4C6_uc010rik.1_Missense_Mutation_p.L30R	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						GCTGTGTTTCTTGTCATGTAT	0.378													G	55432731	T	G	55432731	3	3	27	1	0	0	0	0	1	0	0	0	11052	1609	56	5	91	5	OR4C6	11	55432731	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	93090	55432731	79573785	5179	29130											
OR5D14	219436	broad.mit.edu	37	chr11	55563075	55563075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcatggagcccacctttgCccttttaggtttcacagatt	9	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:55563075C>T	uc010rim.1	+	1	44	c.44C>T	c.(43-45)GCC>GTC	p.A15V		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	15	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)				CCCACCTTTGCCCTTTTAGGT	0.418													T	55563075	C	T	55563075	3	4	27	1	0	0	0	0	1	0	0	0	11155	739	26	2	46	2	OR5D14	11	55563075	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	130344	55563075	79443441	5180	29131											
OR5D14	219436	broad.mit.edu	37	chr11	55563329	55563329	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcttctactttagctgcAtgatgcagtacttcctgtcc	7	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:55563329A>G	uc010rim.1	+	1	298	c.298A>G	c.(298-300)ATG>GTG	p.M100V		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	100	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)				CTTTAGCTGCATGATGCAGTA	0.463													G	55563329	A	G	55563329	3	3	27	1	0	0	0	0	1	0	0	0	11155	217	8	3	300	3	OR5D14	11	55563329	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	254	55563329	79443187	5181	29132											
OR5D14	219436	broad.mit.edu	37	chr11	55563619	55563619	+	Frame_Shift_Del	DEL	C	C	-													tctggctctgatatactcatCccccacctgctgcttttcag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:55563618_55563618TC>T	uc010rim.2	+	0	587	c.587_587TC>T	c.(586-588)atcfs	p.I196fs		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GATATACTCATCCCCCACCTG	0.418													-	55563619	C	-	55563619	7	5	27	1	0	1	0	1	0	0	0	0	11155	845	30	0	590	0	OR5D14	11	55563619	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	290	55563619	79442897	5182	29133											
OR5L1	219437	broad.mit.edu	37	chr11	55579700	55579700	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agctatcactgtcttccatgGaacagtcctttccatttatt	5	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:55579700G>T	uc001nhw.1	+	1	758	c.758G>T	c.(757-759)GGA>GTA	p.G253V		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	253	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)				GTCTTCCATGGAACAGTCCTT	0.512													T	55579700	G	T	55579700	3	4	27	1	0	0	0	0	1	0	0	0	11170	1174	41	5	760	5	OR5L1	11	55579700	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	16081	55579700	79426816	5183	29134											
OR5L1	219437	broad.mit.edu	37	chr11	55579727	55579727	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctttccatttattgcaggcCcagttcaggcaatagtggag	10	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:55579727C>A	uc001nhw.1	+	1	785	c.785C>A	c.(784-786)CCC>CAC	p.P262H		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)				TATTGCAGGCCCAGTTCAGGC	0.502													A	55579727	C	A	55579727	3	1	27	1	0	0	0	0	1	0	0	0	11170	623	22	5	787	5	OR5L1	11	55579727	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	27	55579727	79426789	5184	29135											
OR5L1	219437	broad.mit.edu	37	chr11	55579836	55579836	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaaataaagatgtgaaAgaagctctcagaaaagtgat	10	4	1	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:55579836A>T	uc001nhw.1	+	1	894	c.894A>T	c.(892-894)AAA>AAT	p.K298N		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	298	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)				AAGATGTGAAAGAAGCTCTCA	0.463													T	55579836	A	T	55579836	3	4	27	1	0	0	0	0	1	0	0	0	11170	69	3	5	896	5	OR5L1	11	55579836	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	109	55579836	79426680	5185	29136											
OR5D18	219438	broad.mit.edu	37	chr11	55587251	55587251	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaatattgggttgattgtgaTcatcaaaatcaaccccaaac	7	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:55587251T>A	uc010rin.1	+	1	146	c.146T>A	c.(145-147)ATC>AAC	p.I49N		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	49	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				TTGATTGTGATCATCAAAATC	0.453													A	55587251	T	A	55587251	3	1	27	1	0	0	0	0	1	0	0	0	11157	1435	50	5	148	5	OR5D18	11	55587251	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	7415	55587251	79419265	5186	29137											
OR5I1	10798	broad.mit.edu	37	chr11	55703185	55703185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctcccactgaaagagCggatctttaagactgagaga	9	10	2	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:55703185C>T	uc010ris.1	-	1	692	c.692G>A	c.(691-693)CGC>CAC	p.R231H		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ACTGAAAGAGCGGATCTTTAA	0.458													T	55703185	C	T	55703185	3	4	27	1	0	0	0	0	1	0	0	0	11164	768	27	1	255	1	OR5I1	11	55703185	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	115934	55703185	79303331	5187	29138											
OR5I1	10798	broad.mit.edu	37	chr11	55703617	55703617	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagatttgttctccgagaggAaattgaccagcattttggga	11	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:55703617A>G	uc010ris.1	-	1	260	c.260T>C	c.(259-261)TTC>TCC	p.F87S		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	87	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CTCCGAGAGGAAATTGACCAG	0.408													G	55703617	A	G	55703617	3	3	27	1	0	0	0	0	1	0	0	0	11164	246	9	3	687	3	OR5I1	11	55703617	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	432	55703617	79302899	5188	29139											
OR5F1	338674	broad.mit.edu	37	chr11	55761391	55761391	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagaggcacacgtggagaaAgctctgtgcctcccctcccc	11	15	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:55761391A>C	uc010riv.1	-	1	711	c.711T>G	c.(709-711)GCT>GCG	p.A237A		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	237	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					ACGTGGAGAAAGCTCTGTGCC	0.498													C	55761391	A	C	55761391	2	2	27	1	0	0	0	0	0	0	0	1	11158	59	3	5		5	OR5F1	11	55761391	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	57774	55761391	79245125	5189	29140											
OR5AS1	219447	broad.mit.edu	37	chr11	55798599	55798599	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagtcctcaggtggcagaagCaaaacattctccacttgtgc	9	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:55798599C>G	uc010riw.1	+	1	705	c.705C>G	c.(703-705)AGC>AGG	p.S235R		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)|skin(1)	5	Esophageal squamous(21;0.00693)					GTGGCAGAAGCAAAACATTCT	0.453													G	55798599	C	G	55798599	3	3	27	1	0	0	0	0	1	0	0	0	11146	709	25	5	707	5	OR5AS1	11	55798599	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	37208	55798599	79207917	5190	29141											
OR8H3	390152	broad.mit.edu	37	chr11	55890557	55890557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacttcaggaaagcagaaaGctttctctacttgcgtctct	7	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:55890557G>A	uc001nii.1	+	1	709	c.709G>A	c.(709-711)GCT>ACT	p.A237T		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	237	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					AAAGCAGAAAGCTTTCTCTAC	0.408													A	55890557	G	A	55890557	3	1	27	1	0	0	0	0	1	0	0	0	11239	971	34	2	711	2	OR8H3	11	55890557	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	91958	55890557	79115959	5191	29142											
OR8H1	219469	broad.mit.edu	37	chr11	56057653	56057653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaatgagagcatttttaaCttctttgtttctaagactat	5	6	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:56057653C>T	uc010rje.1	-	1	886	c.886G>A	c.(886-888)GTT>ATT	p.V296I		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					GCATTTTTAACTTCTTTGTTT	0.343													T	56057653	C	T	56057653	3	4	27	1	0	0	0	0	1	0	0	0	11237	565	20	4	51	4	OR8H1	11	56057653	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	167096	56057653	78948863	5192	29143											
OR8K3	219473	broad.mit.edu	37	chr11	56085879	56085879	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattatttgcattgttcctcAtgatctatgtgatctcagtg	7	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:56085879A>G	uc010rjf.1	+	1	97	c.97A>G	c.(97-99)ATG>GTG	p.M33V		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					ATTGTTCCTCATGATCTATGT	0.433													G	56085879	A	G	56085879	3	3	27	1	0	0	0	0	1	0	0	0	11244	217	8	3	99	3	OR8K3	11	56085879	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	28226	56085879	78920637	5193	29144											
OR5M3	219482	broad.mit.edu	37	chr11	56237709	56237709	+	Frame_Shift_Del	DEL	T	T	-													acaaccagcataagtaattgTttttttatctgataacaggt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:56237708_56237708GT>G	uc010rjk.2	-	0	307	c.266_266AC>C	c.(265-267)acafs	p.T89fs	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					ATAAGTAATTGTTTTTTTATC	0.363													-	56237709	T	-	56237709	7	5	27	1	0	1	0	1	0	0	0	0	11175	1725	60	0	660	0	OR5M3	11	56237709	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	151830	56237709	78768807	5194	29145											
OR5AP2	338675	broad.mit.edu	37	chr11	56409175	56409175	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagccatgaggtaagaggcAcaggtggagaaggctttgtg	16	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:56409175A>G	uc001njb.1	-	1	741	c.741T>C	c.(739-741)TGT>TGC	p.C247C		NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP,	247	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						GGTAAGAGGCACAGGTGGAGA	0.468													G	56409175	A	G	56409175	2	3	27	1	0	0	0	0	0	0	0	1	11144	157	6	3		3	OR5AP2	11	56409175	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	171466	56409175	78597341	5195	29146											
OR9G9	504191	broad.mit.edu	37	chr11	56467959	56467959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcgtggtgttcctgggCgtgtactctctcactgtggt	12	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:56467959C>T	uc010rjn.1	+	1	96	c.96C>T	c.(94-96)GGC>GGT	p.G32G		NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN	olfactory receptor, family 9, subfamily G,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGTTCCTGGGCGTGTACTCTC	0.502													T	56467959	C	T	56467959	2	4	27	1	0	0	0	0	0	0	0	1	11252	755	27	1		1	OR9G9	11	56467959	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	58784	56467959	78538557	5196	29147											
OR9G4	283189	broad.mit.edu	37	chr11	56510828	56510828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaagcccagtacagagggCggtggacatggtacctgaat	13	9	0	2	rs139616824		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:56510828C>T	uc010rjo.1	-	1	460	c.460G>A	c.(460-462)GCC>ACC	p.A154T		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						GTACAGAGGGCGGTGGACATG	0.473													T	56510828	C	T	56510828	3	4	27	1	0	0	0	0	1	0	0	0	11251	768	27	1	526	1	OR9G4	11	56510828	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	42869	56510828	78495688	5197	29148											
LRRC55	219527	broad.mit.edu	37	chr11	56949930	56949930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagtccacatcgacctgaGccacaacccctggctgcgga	10	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:56949930G>A	uc001njl.1	+	1	710	c.563G>A	c.(562-564)AGC>AAC	p.S188N		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	158	LRR 4.					integral to membrane					0						ATCGACCTGAGCCACAACCCC	0.617													A	56949930	G	A	56949930	3	1	27	1	0	0	0	0	1	0	0	0	9011	971	34	2	565	2	LRRC55	11	56949930	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	439102	56949930	78056586	5198	29149											
LRRC55	219527	broad.mit.edu	37	chr11	56954725	56954725	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtgttacagattctcAgctggctgagtgccggggcc	13	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:56954725A>G	uc001njl.1	+	2	944	c.797A>G	c.(796-798)CAG>CGG	p.Q266R	LRRC55_uc001njm.1_5'Flank	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	236	LRRCT.					integral to membrane					0						ACAGATTCTCAGCTGGCTGAG	0.587													G	56954725	A	G	56954725	3	3	27	1	0	0	0	0	1	0	0	0	9011	188	7	3	803	3	LRRC55	11	56954725	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4795	56954725	78051791	5199	29150											
APLNR	187	broad.mit.edu	37	chr11	57003818	57003818	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgggcgatgaagaagtAacaggtcagcatgatggtga	16	4	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:57003818A>G	uc001njo.2	-	1	1110	c.661T>C	c.(661-663)TAC>CAC	p.Y221H	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	221	Helical; Name=5; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			lung(5)|ovary(1)	6						ATGAAGAAGTAACAGGTCAGC	0.632													G	57003818	A	G	57003818	3	3	27	1	0	0	0	0	1	0	0	0	777	362	13	3	485	3	APLNR	11	57003818	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	49093	57003818	78002698	5200	29151											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57068388	57068388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctggcttgggaggtaacGtgaggggctttcccagtcct	14	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:57068388G>A	uc001njr.2	-	9	5411	c.5099C>T	c.(5098-5100)ACG>ATG	p.T1700M	TNKS1BP1_uc001njp.2_Missense_Mutation_p.T272M|TNKS1BP1_uc001njq.2_Missense_Mutation_p.T273M|TNKS1BP1_uc001njs.2_Missense_Mutation_p.T1700M	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1700	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				GGGAGGTAACGTGAGGGGCTT	0.547													A	57068388	G	A	57068388	3	1	27	1	0	0	0	0	1	0	0	0	16317	1145	40	1	98	1	TNKS1BP1	11	57068388	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	64570	57068388	77938128	5201	29152											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57076651	57076651	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctcgctcgagcccccAgaacccacacagctggacac	9	19	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:57076651A>G	uc001njr.2	-	5	3846	c.3534T>C	c.(3532-3534)TCT>TCC	p.S1178S	TNKS1BP1_uc001njs.2_Silent_p.S1178S|TNKS1BP1_uc009ymd.1_Silent_p.S629S	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1178	Gly-rich.|Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				TCGAGCCCCCAGAACCCACAC	0.607													G	57076651	A	G	57076651	2	3	27	1	0	0	0	0	0	0	0	1	16317	175	7	3		3	TNKS1BP1	11	57076651	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	8263	57076651	77929865	5202	29153											
ZDHHC5	25921	broad.mit.edu	37	chr11	57440666	57440666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacactcttctttgcctttaCgtgagttttctcccagcagg	8	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:57440666C>T	uc001nkx.1	+	2	1360	c.104C>T	c.(103-105)ACG>ATG	p.T35M	ZDHHC5_uc001nky.1_Intron	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC domain containing 5	35						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)	1						TTTGCCTTTACGTGAGTTTTC	0.517													T	57440666	C	T	57440666	3	4	27	1	0	0	0	0	1	0	0	0	17615	550	19	1	106	1	ZDHHC5	11	57440666	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	364015	57440666	77565850	5203	29154											
ZDHHC5	25921	broad.mit.edu	37	chr11	57466855	57466857	+	In_Frame_Del	DEL	AGA	AGA	-													caacctggtgtctctgagacAgaagaagtggccttgcagcc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:57466854_57466856CAGA>C	uc001nkx.1	+	10	3202_3204	c.1946_1948CAGA>C	c.(1945-1950)acagaa>aCaa	p.E651del	ZDHHC5_uc001nky.1_In_Frame_Del_p.E598del|ZDHHC5_uc001nkz.1_In_Frame_Del_p.E465del	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	Homo sapiens zinc finger, DHHC-type containing 5 (ZDHHC5), mRNA.	651						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GTCTCTGAGACAGAAGAAGTGGC	0.512													-	57466857	AGA	-	57466855	7	5	27	1	0	1	0	1	0	0	0	0	17615	175	7	0	1985	0	ZDHHC5	11	57466855	In_Frame_Del	DEL	AGA	TCGA-BR-6452-01A-12D-1800-08	26189	57466855	77539661	5204	29155											
OR6Q1	219952	broad.mit.edu	37	chr11	57798608	57798608	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accgactacggagacccatgTatttcttcctgacacacttg	7	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:57798608T>C	uc010rjz.1	+	1	184	c.184T>C	c.(184-186)TAT>CAT	p.Y62H	OR9Q1_uc001nmj.2_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q,	62	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)	1		Breast(21;0.0707)|all_epithelial(135;0.142)				GAGACCCATGTATTTCTTCCT	0.478													C	57798608	T	C	57798608	3	2	27	1	0	0	0	0	1	0	0	0	11208	1638	57	3	186	3	OR6Q1	11	57798608	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	331753	57798608	77207908	5205	29156											
OR1S2	219958	broad.mit.edu	37	chr11	57971193	57971193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgactgtgagcaaagtgCcgaacctggcccgcatgaaa	12	10	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:57971193C>T	uc010rkb.1	-	1	461	c.461G>A	c.(460-462)GGC>GAC	p.G154D		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)				GAGCAAAGTGCCGAACCTGGC	0.488													T	57971193	C	T	57971193	3	4	27	1	0	0	0	0	1	0	0	0	10973	739	26	2	519	2	OR1S2	11	57971193	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	172585	57971193	77035323	5206	29157											
OR1S1	219959	broad.mit.edu	37	chr11	57982629	57982629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctatgaccactttgtggCgatctgccaccctctgaatt	9	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:57982629C>T	uc010rkc.1	+	1	413	c.413C>T	c.(412-414)GCG>GTG	p.A138V		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)				CACTTTGTGGCGATCTGCCAC	0.443													T	57982629	C	T	57982629	3	4	27	1	0	0	0	0	1	0	0	0	10972	768	27	1	415	1	OR1S1	11	57982629	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	11436	57982629	77023887	5207	29158											
OR10Q1	219960	broad.mit.edu	37	chr11	57996067	57996067	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccagccaacgaaatgggcTtctgggcccccaaaatgttg	10	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:57996067T>C	uc010rkd.1	-	1	281	c.281A>G	c.(280-282)AAG>AGG	p.K94R		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)				CGAAATGGGCTTCTGGGCCCC	0.527													C	57996067	T	C	57996067	3	2	27	1	0	0	0	0	1	0	0	0	10916	1609	56	3	682	3	OR10Q1	11	57996067	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	13438	57996067	77010449	5208	29159											
OR5B2	390190	broad.mit.edu	37	chr11	58190409	58190409	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggccaacaagtaatttTccaccgtggccaaggctaca	9	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:58190409T>C	uc010rkg.1	-	1	326	c.326A>G	c.(325-327)GAA>GGA	p.E109G		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B,	109	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CAAGTAATTTTCCACCGTGGC	0.517													C	58190409	T	C	58190409	3	2	27	1	0	0	0	0	1	0	0	0	11150	1783	62	3	607	3	OR5B2	11	58190409	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	194342	58190409	76816107	5209	29160											
OR5B21	219968	broad.mit.edu	37	chr11	58275329	58275329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggccttgtcccctgaccGcaatgcagccaccgttttgg	11	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:58275329G>A	uc010rki.1	-	1	250	c.250C>T	c.(250-252)CGG>TGG	p.R84W		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B,	84	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCCCCTGACCGCAATGCAGCC	0.532													A	58275329	G	A	58275329	3	1	27	1	0	0	0	0	1	0	0	0	11151	1086	38	1	681	1	OR5B21	11	58275329	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	84920	58275329	76731187	5210	29161											
GLYAT	10249	broad.mit.edu	37	chr11	58478068	58478068	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttatcaaactcacatggcCttgggtttgccaccattggg	9	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:58478068C>A	uc001nnb.2	-	5	638	c.483G>T	c.(481-483)AAG>AAT	p.K161N	GLYAT_uc001nnc.2_Missense_Mutation_p.K161N	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase isoform a	161					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity				0		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CTCACATGGCCTTGGGTTTGC	0.318													A	58478068	C	A	58478068	3	1	27	1	0	0	0	0	1	0	0	0	6479	680	24	5	419	5	GLYAT	11	58478068	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	202739	58478068	76528448	5211	29162											
DTX4	23220	broad.mit.edu	37	chr11	58949402	58949402	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccattggctttagctacgtAattgacttcaacaccatggg	8	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:58949402A>G	uc001nns.2	+	2	659	c.402A>G	c.(400-402)GTA>GTG	p.V134V	DTX4_uc001nnr.2_Silent_p.V28V	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	134	WWE 2.				Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)				TTAGCTACGTAATTGACTTCA	0.592													G	58949402	A	G	58949402	2	3	27	1	0	0	0	0	0	0	0	1	4797	349	13	3		3	DTX4	11	58949402	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	471334	58949402	76057114	5212	29163											
MPEG1	219972	broad.mit.edu	37	chr11	58978613	58978613	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcccggatttgacgcaatAggacacttggcatccatcgc	11	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:58978613A>G	uc001nnu.3	-	1	1882	c.1726T>C	c.(1726-1728)TAT>CAT	p.Y576H		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	576	Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)				TTGACGCAATAGGACACTTGG	0.602													G	58978613	A	G	58978613	3	3	27	1	0	0	0	0	1	0	0	0	9723	420	15	3	428	3	MPEG1	11	58978613	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	29211	58978613	76027903	5213	29164											
MPEG1	219972	broad.mit.edu	37	chr11	58979219	58979219	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaccgaaagagaagttggTcattttcccctcgcaggagc	10	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:58979219T>C	uc001nnu.3	-	1	1276	c.1120A>G	c.(1120-1122)ACC>GCC	p.T374A		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	374	Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)				GAGAAGTTGGTCATTTTCCCC	0.483													C	58979219	T	C	58979219	3	2	27	1	0	0	0	0	1	0	0	0	9723	1667	58	3	1034	3	MPEG1	11	58979219	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	606	58979219	76027297	5214	29165											
OR4D11	219986	broad.mit.edu	37	chr11	59271510	59271510	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttggatggggggctttgtCcactccatcgtgcagatctc	12	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:59271510C>T	uc001noa.1	+	1	462	c.462C>T	c.(460-462)GTC>GTT	p.V154V		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GGGGCTTTGTCCACTCCATCG	0.542													T	59271510	C	T	59271510	2	4	27	1	0	0	0	0	0	0	0	1	11055	842	30	4		4	OR4D11	11	59271510	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	292291	59271510	75735006	5215	29166											
PLAC1L	219990	broad.mit.edu	37	chr11	59814517	59814517	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacagcagaagagttaggaTtattatcttctagtccaaac	7	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:59814517T>C	uc001nol.2	+	4	633	c.448T>C	c.(448-450)TTA>CTA	p.L150L		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	placenta-specific 1-like precursor	150						extracellular region				ovary(2)|skin(1)	3						AGAGTTAGGATTATTATCTTC	0.358													C	59814517	T	C	59814517	2	2	27	1	0	0	0	0	0	0	0	1	12013	1490	52	3		3	PLAC1L	11	59814517	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	543007	59814517	75191999	5216	29167											
MS4A12	54860	broad.mit.edu	37	chr11	60264792	60264792	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgatacttaggacataAtgatgtcatccaagccaaca	7	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:60264792A>C	uc001npr.2	+	2	58	c.1A>C	c.(1-3)ATG>CTG	p.M1L	MS4A12_uc009ynb.2_Missense_Mutation_p.M1L	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member	1	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						TTAGGACATAATGATGTCATC	0.373													C	60264792	A	C	60264792	3	2	27	1	0	0	0	0	1	0	0	0	9856	101	4	5	3	5	MS4A12	11	60264792	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	450275	60264792	74741724	5217	29168											
MS4A13	503497	broad.mit.edu	37	chr11	60285576	60285576	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgattggcatctttcacaTtttcatgtggtactttctat	6	7	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:60285576T>C	uc001nps.2	+	3	343	c.20T>C	c.(19-21)ATT>ACT	p.I7T	MS4A13_uc009ync.2_Missense_Mutation_p.I7T|MS4A13_uc009ynd.2_Missense_Mutation_p.I7T	NM_001012417	NP_001012417	Q5J8X5	M4A13_HUMAN	membrane-spanning 4-domains, subfamily A, member	7	Helical; (Potential).					integral to membrane					0						ATCTTTCACATTTTCATGTGG	0.323													C	60285576	T	C	60285576	3	2	27	1	0	0	0	0	1	0	0	0	9857	1493	52	3	22	3	MS4A13	11	60285576	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	20784	60285576	74720940	5218	29169											
CCDC86	79080	broad.mit.edu	37	chr11	60615443	60615443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcgcacatcgtggcagCggaagatgaaggaacgacag	14	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:60615443C>T	uc001nqa.2	+	2	974	c.805C>T	c.(805-807)CGG>TGG	p.R269W	CCDC86_uc001nqb.2_Missense_Mutation_p.R13W	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	269					interspecies interaction between organisms	nucleus					0						ATCGTGGCAGCGGAAGATGAA	0.627													T	60615443	C	T	60615443	3	4	27	1	0	0	0	0	1	0	0	0	2861	759	27	1	811	1	CCDC86	11	60615443	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	329867	60615443	74391073	5219	29170											
CCDC86	79080	broad.mit.edu	37	chr11	60615518	60615518	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaggaggagaaggagaggCgccgccaggtgaggggccag	22	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:60615518C>A	uc001nqa.2	+	2	1049	c.880C>A	c.(880-882)CGC>AGC	p.R294S	CCDC86_uc001nqb.2_Missense_Mutation_p.R38S	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	294	Potential.				interspecies interaction between organisms	nucleus					0						GAAGGAGAGGCGCCGCCAGGT	0.642													A	60615518	C	A	60615518	3	1	27	1	0	0	0	0	1	0	0	0	2861	768	27	5	886	5	CCDC86	11	60615518	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	75	60615518	74390998	5220	29171											
CCDC86	79080	broad.mit.edu	37	chr11	60617771	60617771	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgctgcagaagcagccGccccagcagccggcagccaa	12	18	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:60617771G>A	uc001nqa.2	+	4	1225	c.1056G>A	c.(1054-1056)CCG>CCA	p.P352P	CCDC86_uc001nqb.2_Silent_p.P96P	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	352					interspecies interaction between organisms	nucleus					0						AGAAGCAGCCGCCCCAGCAGC	0.637													A	60617771	G	A	60617771	2	1	27	1	0	0	0	0	0	0	0	1	2861	1074	38	1		1	CCDC86	11	60617771	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2253	60617771	74388745	5221	29172											
ZP1	22917	broad.mit.edu	37	chr11	60637016	60637016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctcacctgcaggatgggCgtttccacctgagggtgttc	12	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:60637016C>T	uc001nqd.2	+	3	345	c.325C>T	c.(325-327)CGT>TGT	p.R109C	ZP1_uc001nqe.2_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	109	Extracellular (Potential).				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0						GCAGGATGGGCGTTTCCACCT	0.607													T	60637016	C	T	60637016	3	4	27	1	0	0	0	0	1	0	0	0	18212	768	27	1	335	1	ZP1	11	60637016	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	19245	60637016	74369500	5222	29173											
ZP1	22917	broad.mit.edu	37	chr11	60637914	60637914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggctgctgctatgacaaCaccagagaggttccctgtta	11	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:60637914C>T	uc001nqd.2	+	4	812	c.792C>T	c.(790-792)AAC>AAT	p.N264N	ZP1_uc001nqe.2_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	264	Extracellular (Potential).|P-type.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0						GCTATGACAACACCAGAGAGG	0.567													T	60637914	C	T	60637914	2	4	27	1	0	0	0	0	0	0	0	1	18212	477	17	4		4	ZP1	11	60637914	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	898	60637914	74368602	5223	29174											
ZP1	22917	broad.mit.edu	37	chr11	60642608	60642608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcccctgggcaggacagcGacgatcctcaggtcaccgta	11	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:60642608G>A	uc001nqd.2	+	11	1681	c.1661G>A	c.(1660-1662)CGA>CAA	p.R554Q	ZP1_uc001nqe.2_Missense_Mutation_p.R261Q	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	554	Extracellular (Potential).				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0						GCAGGACAGCGACGATCCTCA	0.582													A	60642608	G	A	60642608	3	1	27	1	0	0	0	0	1	0	0	0	18212	1058	37	1	1703	1	ZP1	11	60642608	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4694	60642608	74363908	5224	29175											
TMEM109	79073	broad.mit.edu	37	chr11	60689443	60689443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccctgatgaggtcggtgCctgacccttccacccgggcc	13	16	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:60689443C>T	uc001nqg.2	+	4	916	c.538C>T	c.(538-540)CCT>TCT	p.P180S	TMEM109_uc001nqh.2_Missense_Mutation_p.P180S|TMEM132A_uc001nqi.2_5'Flank|TMEM132A_uc001nqj.2_5'Flank	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	transmembrane protein 109 precursor	180						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane					0						GAGGTCGGTGCCTGACCCTTC	0.662													T	60689443	C	T	60689443	3	4	27	1	0	0	0	0	1	0	0	0	16022	739	26	2	548	2	TMEM109	11	60689443	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	46835	60689443	74317073	5225	29176											
TMEM132A	54972	broad.mit.edu	37	chr11	60703735	60703735	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaacacaggtgtgaggggcAagtttgagcgggcagaggag	19	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:60703735A>G	uc001nqj.2	+	11	2621	c.2428A>G	c.(2428-2430)AAG>GAG	p.K810E	TMEM132A_uc001nqi.2_Missense_Mutation_p.K811E|TMEM132A_uc001nqm.2_Missense_Mutation_p.K20E	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	810	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						TGTGAGGGGCAAGTTTGAGCG	0.552													G	60703735	A	G	60703735	3	3	27	1	0	0	0	0	1	0	0	0	16042	131	5	3	2473	3	TMEM132A	11	60703735	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	14292	60703735	74302781	5226	29177											
TMEM132A	54972	broad.mit.edu	37	chr11	60704348	60704348	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaccctgaggagcttcgcaActacatggagaggatccggg	15	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:60704348A>G	uc001nqj.2	+	11	3234	c.3041A>G	c.(3040-3042)AAC>AGC	p.N1014S	TMEM132A_uc001nqi.2_Missense_Mutation_p.N1015S|TMEM132A_uc001nqm.2_Missense_Mutation_p.N224S	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	1014	Cytoplasmic (Potential).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						GAGCTTCGCAACTACATGGAG	0.652													G	60704348	A	G	60704348	3	3	27	1	0	0	0	0	1	0	0	0	16042	43	2	3	3086	3	TMEM132A	11	60704348	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	613	60704348	74302168	5227	29178											
CD6	923	broad.mit.edu	37	chr11	60783197	60783197	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccccagttttcatgctgcCcatccaggtccaggccccgc	8	19	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:60783197C>A	uc001nqq.2	+	9	1623	c.1400C>A	c.(1399-1401)CCC>CAC	p.P467H	CD6_uc001nqp.2_Missense_Mutation_p.P467H|CD6_uc001nqr.2_Missense_Mutation_p.P435H|CD6_uc001nqs.2_Intron|CD6_uc001nqt.2_Intron	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor	467	Cytoplasmic (Potential).			VFMLPI -> GPGPAP (in Ref. 3; CAA43306).	cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						TTCATGCTGCCCATCCAGGTC	0.602													A	60783197	C	A	60783197	3	1	27	1	0	0	0	0	1	0	0	0	3028	623	22	5	1434	5	CD6	11	60783197	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	78849	60783197	74223319	5228	29179											
DDB1	1642	broad.mit.edu	37	chr11	61079550	61079550	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtgctattgttggccagCgccaggctggaaagaagggt	17	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:61079550C>T	uc001nrc.3	-	17	2302	c.2076G>A	c.(2074-2076)GCG>GCA	p.A692A	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.A692A	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	692	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						TGTTGGCCAGCGCCAGGCTGG	0.522								NER					T	61079550	C	T	61079550	2	4	27	1	0	0	0	0	0	0	0	1	4323	755	27	1		1	DDB1	11	61079550	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	296353	61079550	73926966	5229	29180											
DDB1	1642	broad.mit.edu	37	chr11	61081422	61081422	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctcaaaggtggtcatcagGatggagcgaggaatgatctc	13	8	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:61081422G>A	uc001nrc.3	-	15	1999	c.1773C>T	c.(1771-1773)ATC>ATT	p.I591I	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.I591I	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	591	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						TGGTCATCAGGATGGAGCGAG	0.478								NER					A	61081422	G	A	61081422	2	1	27	1	0	0	0	0	0	0	0	1	4323	1164	41	4		4	DDB1	11	61081422	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1872	61081422	73925094	5230	29181											
DAK	26007	broad.mit.edu	37	chr11	61113377	61113377	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctccaagcctggaagagcCcaggagctgatctgttacaa	11	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:61113377C>A	uc001nre.2	+	17	1791	c.1534C>A	c.(1534-1536)CCA>ACA	p.P512T	DAK_uc009ynm.1_Missense_Mutation_p.P442T	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	512	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0						CTGGAAGAGCCCAGGAGCTGA	0.527													A	61113377	C	A	61113377	3	1	27	1	0	0	0	0	1	0	0	0	4228	623	22	5	1596	5	DAK	11	61113377	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	31955	61113377	73893139	5231	29182											
C11orf66	220004	broad.mit.edu	37	chr11	61257286	61257286	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catccccaagggtctagaccAggaaggctggactcgaggtg	14	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:61257286A>T	uc001nru.1	+	12	1201	c.1076A>T	c.(1075-1077)CAG>CTG	p.Q359L	C11orf66_uc009ynq.1_Missense_Mutation_p.Q339L	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	359										ovary(1)	1						GGTCTAGACCAGGAAGGCTGG	0.637													T	61257286	A	T	61257286	3	4	27	1	0	0	0	0	1	0	0	0	1656	188	7	5	1118	5	C11orf66	11	61257286	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	143909	61257286	73749230	5232	29183											
SYT7	9066	broad.mit.edu	37	chr11	61300478	61300478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccatgagcatctcgctggTgagggagttgacgaggtctg	15	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:61300478T>C	uc001nrv.2	-	4	340	c.334A>G	c.(334-336)ACC>GCC	p.T112A	SYT7_uc009ynr.2_Missense_Mutation_p.T187A	NM_004200	NP_004191	O43581	SYT7_HUMAN	synaptotagmin VII	112	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4						ATCTCGCTGGTGAGGGAGTTG	0.642													C	61300478	T	C	61300478	3	2	27	1	0	0	0	0	1	0	0	0	15476	1696	59	3	901	3	SYT7	11	61300478	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	43192	61300478	73706038	5233	29184											
C11orf9	745	broad.mit.edu	37	chr11	61533179	61533179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagcaaggaggatgcctcCgacctgtgagtggccccctc	12	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:61533179C>T	uc001nsc.1	+	2	225	c.129C>T	c.(127-129)TCC>TCT	p.S43S	C11orf9_uc001nse.1_Silent_p.S34S	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	43					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						AGGATGCCTCCGACCTGTGAG	0.662													T	61533179	C	T	61533179	2	4	27	1	0	0	0	0	0	0	0	1	1671	639	23	1		1	C11orf9	11	61533179	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	232701	61533179	73473337	5234	29185											
FADS2	9415	broad.mit.edu	37	chr11	61615659	61615659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaactggtggaatcatcGccacttccagcaccacgcca	8	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:61615659G>A	uc001nsl.1	+	5	797	c.647G>A	c.(646-648)CGC>CAC	p.R216H	FADS2_uc001nsj.2_Missense_Mutation_p.R194H|FADS2_uc010rlo.1_Missense_Mutation_p.R185H|FADS2_uc001nsk.2_Missense_Mutation_p.R216H	NM_004265	NP_004256	O95864	FADS2_HUMAN	fatty acid desaturase 2	216	Cytoplasmic (Potential).				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			ovary(1)|pancreas(1)	2					Alpha-Linolenic Acid(DB00132)	TGGAATCATCGCCACTTCCAG	0.582													A	61615659	G	A	61615659	3	1	27	1	0	0	0	0	1	0	0	0	5366	1087	38	1	665	1	FADS2	11	61615659	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	82480	61615659	73390857	5235	29186											
FTH1	2495	broad.mit.edu	37	chr11	61732893	61732893	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttggttctgcagcttcatcAgtttctcagcatgttccctc	8	12	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:61732893A>G	uc001nsu.2	-	2	444	c.209T>C	c.(208-210)CTG>CCG	p.L70P		NM_002032	NP_002023	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	70	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			ovary(1)	1					Iron Dextran(DB00893)	CAGCTTCATCAGTTTCTCAGC	0.443													G	61732893	A	G	61732893	3	3	27	1	0	0	0	0	1	0	0	0	6082	188	7	3	354	3	FTH1	11	61732893	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	117234	61732893	73273623	5236	29187											
SCGB1D1	10648	broad.mit.edu	37	chr11	61959627	61959627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgccaaatttaaggcacCtctggaagctgttgcagcca	9	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:61959627C>T	uc001nsz.1	+	2	202	c.155C>T	c.(154-156)CCT>CTT	p.P52L		NM_006552	NP_006543	O95968	SG1D1_HUMAN	lipophilin A precursor	52						extracellular space	binding			skin(1)	1						TTTAAGGCACCTCTGGAAGCT	0.428													T	61959627	C	T	61959627	3	4	27	1	0	0	0	0	1	0	0	0	13896	681	24	4	161	4	SCGB1D1	11	61959627	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	226734	61959627	73046889	5237	29188											
AHNAK	79026	broad.mit.edu	37	chr11	62298283	62298283	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actttggggcctttcaagtgTaagtccacatcaggcatgga	11	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:62298283T>C	uc001ntl.2	-	5	3906	c.3606A>G	c.(3604-3606)TTA>TTG	p.L1202L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1202					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CTTTCAAGTGTAAGTCCACAT	0.483													C	62298283	T	C	62298283	2	2	27	1	0	0	0	0	0	0	0	1	414	1635	57	3		3	AHNAK	11	62298283	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	338656	62298283	72708233	5238	29189											
AHNAK	79026	broad.mit.edu	37	chr11	62301413	62301413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcacatccacagtgtagGccgtgacccttctggtcact	9	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:62301413G>A	uc001ntl.2	-	5	776	c.476C>T	c.(475-477)GCC>GTC	p.A159V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	159					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CACAGTGTAGGCCGTGACCCT	0.532													A	62301413	G	A	62301413	3	1	27	1	0	0	0	0	1	0	0	0	414	1203	42	2	17316	2	AHNAK	11	62301413	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3130	62301413	72705103	5239	29190											
EEF1G	1937	broad.mit.edu	37	chr11	62338549	62338549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catccagcagccccagaattCgcctcacttcctcctttgca	5	18	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:62338549C>T	uc001ntm.1	-	5	556	c.410G>A	c.(409-411)CGA>CAA	p.R137Q	EEF1G_uc010rlw.1_Missense_Mutation_p.R187Q|EEF1G_uc001ntn.1_Missense_Mutation_p.R17Q	NM_001404	NP_001395	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1	137	GST C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity				0						CCCCAGAATTCGCCTCACTTC	0.498													T	62338549	C	T	62338549	3	4	27	1	0	0	0	0	1	0	0	0	4928	884	31	1	927	1	EEF1G	11	62338549	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	37136	62338549	72667967	5240	29191											
GANAB	23193	broad.mit.edu	37	chr11	62394111	62394111	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgaagaccgccgcactcGcatccatcgaggcacgattg	10	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:62394111G>A	uc001nub.2	-	21	2476	c.2443C>T	c.(2443-2445)CGA>TGA	p.R815*	GANAB_uc001ntz.2_Nonsense_Mutation_p.R2*|GANAB_uc001nua.2_Nonsense_Mutation_p.R837*|GANAB_uc001nuc.2_Nonsense_Mutation_p.R718*|GANAB_uc010rma.1_Nonsense_Mutation_p.R723*|GANAB_uc010rmb.1_Nonsense_Mutation_p.R701*	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	815					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						CGCCGCACTCGCATCCATCGA	0.562													A	62394111	G	A	62394111	4	1	27	1	0	0	0	0	0	1	0	0	6233	1095	38	1	407	1	GANAB	11	62394111	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	55562	62394111	72612405	5241	29192											
INTS5	80789	broad.mit.edu	37	chr11	62416356	62416356	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcggtaggcacctgccccaGaggcctggctcaccaggtgc	14	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:62416356G>T	uc001nud.2	-	2	1249	c.1196C>A	c.(1195-1197)TCT>TAT	p.S399Y	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	399					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						ACCTGCCCCAGAGGCCTGGCT	0.617													T	62416356	G	T	62416356	3	4	27	1	0	0	0	0	1	0	0	0	7781	942	33	5	1867	5	INTS5	11	62416356	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	22245	62416356	72590160	5242	29193											
ZBTB3	79842	broad.mit.edu	37	chr11	62520498	62520498	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaagagagacatcagccacTggtggatgaggtgcccgcag	15	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:62520498T>A	uc001nuz.2	-	2	911	c.789A>T	c.(787-789)CCA>CCT	p.P263P		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	263	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3						CATCAGCCACTGGTGGATGAG	0.552													A	62520498	T	A	62520498	2	1	27	1	0	0	0	0	0	0	0	1	17531	1567	55	5		5	ZBTB3	11	62520498	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	104142	62520498	72486018	5243	29194											
NXF1	10482	broad.mit.edu	37	chr11	62569076	62569076	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcaagggcttgttgggAgccatcgtatcgtttgctca	14	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:62569076A>G	uc001nvf.1	-	7	803	c.667T>C	c.(667-669)TCC>CCC	p.S223P	NXF1_uc001nvg.1_Missense_Mutation_p.S223P|NXF1_uc009yog.1_Missense_Mutation_p.S266P|NXF1_uc010rmh.1_Missense_Mutation_p.S86P	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	223	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3						GCTTGTTGGGAGCCATCGTAT	0.512													G	62569076	A	G	62569076	3	3	27	1	0	0	0	0	1	0	0	0	10782	304	11	3	1307	3	NXF1	11	62569076	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	48578	62569076	72437440	5244	29195											
WDR74	54663	broad.mit.edu	37	chr11	62600597	62600597	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggttcttgaggctcttgggGctcatcctggtgagtgggaa	17	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:62600597G>T	uc001nvm.1	-	12	1153	c.985C>A	c.(985-987)CCC>ACC	p.P329T	STX5_uc001nvh.2_5'Flank|STX5_uc010rmi.1_5'Flank|STX5_uc009yoh.2_5'Flank|STX5_uc001nvi.2_5'Flank|STX5_uc010rmj.1_5'Flank|STX5_uc001nvj.2_5'Flank|WDR74_uc001nvk.1_Missense_Mutation_p.P272T|WDR74_uc001nvl.1_Missense_Mutation_p.P310T|WDR74_uc001nvn.1_Missense_Mutation_p.P381T|WDR74_uc009yoi.1_Missense_Mutation_p.P329T	NM_018093	NP_060563	Q6RFH5	WDR74_HUMAN	WD repeat domain 74	329						nucleolus				ovary(1)	1						GGCTCTTGGGGCTCATCCTGG	0.398													T	62600597	G	T	62600597	3	4	27	1	0	0	0	0	1	0	0	0	17321	1203	42	5	176	5	WDR74	11	62600597	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	31521	62600597	72405919	5245	29196											
CHRM1	1128	broad.mit.edu	37	chr11	62677758	62677758	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcttccttccagctgTaggcctgcagcagcctgggg	11	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:62677758T>G	uc001nwi.2	-	2	1216	c.815A>C	c.(814-816)TAC>TCC	p.Y272S		NM_000738	NP_000729	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	272	Cytoplasmic (Potential).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding				0					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	CTTCCAGCTGTAGGCCTGCAG	0.632													G	62677758	T	G	62677758	3	3	27	1	0	0	0	0	1	0	0	0	3376	1638	57	5	571	5	CHRM1	11	62677758	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	77161	62677758	72328758	5246	29197											
RTN3	10313	broad.mit.edu	37	chr11	63472327	63472327	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtatattttctttcagattcCtttgtttcttcctcttcctc	3	11	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:63472327C>A	uc001nxq.2	+	2	334	c.147C>A	c.(145-147)TCC>TCA	p.S49S	RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Silent_p.S49S|RTN3_uc001nxn.2_Intron|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Intron|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	49					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1						TTTCAGATTCCTTTGTTTCTT	0.363													A	63472327	C	A	63472327	2	1	27	1	0	0	0	0	0	0	0	1	13727	668	24	5		5	RTN3	11	63472327	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	794569	63472327	71534189	5247	29198											
RTN3	10313	broad.mit.edu	37	chr11	63487827	63487827	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttcaacagtgtctccaaAtgtttttaatgagacagaat	6	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:63487827A>C	uc001nxq.2	+	3	2040	c.1853A>C	c.(1852-1854)AAT>ACT	p.N618T	RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Missense_Mutation_p.N599T|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Missense_Mutation_p.N506T|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	618					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1						GTGTCTCCAAATGTTTTTAAT	0.383													C	63487827	A	C	63487827	3	2	27	1	0	0	0	0	1	0	0	0	13727	101	4	5	1863	5	RTN3	11	63487827	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	15500	63487827	71518689	5248	29199											
RTN3	10313	broad.mit.edu	37	chr11	63488173	63488173	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctacccaaggtactccagtAgcatctcttgacttagaaca	6	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:63488173A>G	uc001nxq.2	+	3	2386	c.2199A>G	c.(2197-2199)GTA>GTG	p.V733V	RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Silent_p.V714V|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Silent_p.V621V|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	733					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1						GTACTCCAGTAGCATCTCTTG	0.413													G	63488173	A	G	63488173	2	3	27	1	0	0	0	0	0	0	0	1	13727	407	15	3		3	RTN3	11	63488173	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	346	63488173	71518343	5249	29200											
RCOR2	283248	broad.mit.edu	37	chr11	63681532	63681532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagggctcaggtacatgCccttgggtgggcgacgccgg	16	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:63681532C>T	uc001nyc.2	-	8	1173	c.785G>A	c.(784-786)GGC>GAC	p.G262D		NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)|skin(1)	2						CAGGTACATGCCCTTGGGTGG	0.632													T	63681532	C	T	63681532	3	4	27	1	0	0	0	0	1	0	0	0	13183	739	26	2	806	2	RCOR2	11	63681532	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	193359	63681532	71324984	5250	29201											
STIP1	10963	broad.mit.edu	37	chr11	63970965	63970965	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatgatggcgcagtacaAccggcacgacagccccgaag	12	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:63970965A>G	uc001nyk.1	+	13	1577	c.1430A>G	c.(1429-1431)AAC>AGC	p.N477S	STIP1_uc010rnb.1_Missense_Mutation_p.N453S	NM_006819	NP_006810	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	477					axon guidance|response to stress	Golgi apparatus|nucleus				ovary(2)|liver(1)	3						GCGCAGTACAACCGGCACGAC	0.597													G	63970965	A	G	63970965	3	3	27	1	0	0	0	0	1	0	0	0	15284	43	2	3	1480	3	STIP1	11	63970965	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	289433	63970965	71035551	5251	29202											
FERMT3	83706	broad.mit.edu	37	chr11	63978085	63978085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcccccgtgccccacagatCgcaagcaggactggtcagac	11	16	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:63978085C>T	uc001nyl.2	+	3	312	c.163C>T	c.(163-165)CGC>TGC	p.R55C	FERMT3_uc001nym.2_Missense_Mutation_p.R55C	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	fermitin family homolog 3 long form	55					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			ovary(1)	1						CCCCACAGATCGCAAGCAGGA	0.617													T	63978085	C	T	63978085	3	4	27	1	0	0	0	0	1	0	0	0	5819	884	31	1	169	1	FERMT3	11	63978085	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	7120	63978085	71028431	5252	29203											
PLCB3	5331	broad.mit.edu	37	chr11	64023979	64023979	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcccggctgctcatcgAaaagtatgagcccaaccagc	10	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:64023979A>G	uc001nzb.2	+	9	830	c.830A>G	c.(829-831)GAA>GGA	p.E277G	PLCB3_uc009ypg.1_Missense_Mutation_p.E277G|PLCB3_uc009yph.1_Missense_Mutation_p.E210G|PLCB3_uc009ypi.2_Missense_Mutation_p.E277G	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	277					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						CTGCTCATCGAAAAGTATGAG	0.632													G	64023979	A	G	64023979	3	3	27	1	0	0	0	0	1	0	0	0	12029	246	9	3	864	3	PLCB3	11	64023979	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	45894	64023979	70982537	5253	29204											
PLCB3	5331	broad.mit.edu	37	chr11	64026012	64026012	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactatggggctgccgctgCgtggagctggacgtgtggaa	17	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:64026012C>T	uc001nzb.2	+	11	1080	c.1080C>T	c.(1078-1080)TGC>TGT	p.C360C	PLCB3_uc009ypg.1_Silent_p.C360C|PLCB3_uc009yph.1_Silent_p.C293C|PLCB3_uc009ypi.2_Silent_p.C360C	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	360	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						GCTGCCGCTGCGTGGAGCTGG	0.682													T	64026012	C	T	64026012	2	4	27	1	0	0	0	0	0	0	0	1	12029	776	27	1		1	PLCB3	11	64026012	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2033	64026012	70980504	5254	29205											
PLCB3	5331	broad.mit.edu	37	chr11	64031258	64031258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcggactacattcctgacGaccaccagggtgagctgggg	13	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:64031258G>A	uc001nzb.2	+	21	2551	c.2551G>A	c.(2551-2553)GAC>AAC	p.D851N	PLCB3_uc009ypg.1_Missense_Mutation_p.D851N|PLCB3_uc009yph.1_Missense_Mutation_p.D784N|PLCB3_uc009ypi.2_Missense_Mutation_p.D851N	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	851					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						CATTCCTGACGACCACCAGGG	0.682													A	64031258	G	A	64031258	3	1	27	1	0	0	0	0	1	0	0	0	12029	1058	37	1	2633	1	PLCB3	11	64031258	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5246	64031258	70975258	5255	29206											
PLCB3	5331	broad.mit.edu	37	chr11	64032685	64032685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcgtgatgatctcatcgCcagcatcctctcaggtaggg	12	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:64032685C>T	uc001nzb.2	+	24	2828	c.2828C>T	c.(2827-2829)GCC>GTC	p.A943V	PLCB3_uc009ypg.1_Missense_Mutation_p.A943V|PLCB3_uc009yph.1_Missense_Mutation_p.A876V|PLCB3_uc009ypi.2_Missense_Mutation_p.A943V	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	943					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						GATCTCATCGCCAGCATCCTC	0.701													T	64032685	C	T	64032685	3	4	27	1	0	0	0	0	1	0	0	0	12029	739	26	2	2922	2	PLCB3	11	64032685	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1427	64032685	70973831	5256	29207											
BAD	572	broad.mit.edu	37	chr11	64037796	64037796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgcccgcgctcttcgggCgaggaagtcccttctggtgg	15	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:64037796C>T	uc001nzd.2	-	4	474	c.392G>A	c.(391-393)CGC>CAC	p.R131H	BAD_uc001nzc.2_Missense_Mutation_p.R131H|GPR137_uc009ypj.1_5'UTR	NM_032989	NP_116784	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	131					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)	1						GCTCTTCGGGCGAGGAAGTCC	0.592													T	64037796	C	T	64037796	3	4	27	1	0	0	0	0	1	0	0	0	1285	768	27	1	118	1	BAD	11	64037796	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5111	64037796	70968720	5257	29208											
SLC22A12	116085	broad.mit.edu	37	chr11	64367342	64367342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagggctctgcattctggCcaacacgctggtgccccacg	13	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:64367342C>T	uc001oam.1	+	7	2012	c.1265C>T	c.(1264-1266)GCC>GTC	p.A422V	SLC22A12_uc001oal.1_Missense_Mutation_p.A201V|SLC22A12_uc009yps.1_Missense_Mutation_p.A388V|SLC22A12_uc001oan.1_Missense_Mutation_p.A314V|SLC22A12_uc009ypt.2_Missense_Mutation_p.A240V	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	422	Helical; (Potential).				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1						TGCATTCTGGCCAACACGCTG	0.677													T	64367342	C	T	64367342	3	4	27	1	0	0	0	0	1	0	0	0	14443	739	26	2	1291	2	SLC22A12	11	64367342	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	329546	64367342	70639174	5258	29209											
NRXN2	9379	broad.mit.edu	37	chr11	64453147	64453147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttcgggtgacccggacgtCgtgccaggcgttgtcgttga	16	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:64453147C>T	uc001oar.2	-	7	1562	c.1123G>A	c.(1123-1125)GAC>AAC	p.D375N	NRXN2_uc001oas.2_Missense_Mutation_p.D351N|NRXN2_uc001oaq.2_Missense_Mutation_p.D49N	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						ACCCGGACGTCGTGCCAGGCG	0.602													T	64453147	C	T	64453147	3	4	27	1	0	0	0	0	1	0	0	0	10666	884	31	1	4356	1	NRXN2	11	64453147	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	85805	64453147	70553369	5259	29210											
RASGRP2	10235	broad.mit.edu	37	chr11	64508434	64508434	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgcacacgctgtctatgtcGattaggctgctgtgccgtcg	12	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:64508434G>A	uc009ypu.2	-	5	584	c.357C>T	c.(355-357)ATC>ATT	p.I119I	RASGRP2_uc001oat.2_5'Flank|RASGRP2_uc001oau.2_5'UTR|RASGRP2_uc009ypv.2_Silent_p.I119I|RASGRP2_uc009ypw.2_Silent_p.I119I	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2	119	N-terminal Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity				0						TGTCTATGTCGATTAGGCTGC	0.532											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	64508434	G	A	64508434	2	1	27	1	0	0	0	0	0	0	0	1	13075	1048	37	1		1	RASGRP2	11	64508434	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	55287	64508434	70498082	5260	29211											
SF1	7536	broad.mit.edu	37	chr11	64540944	64540944	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaggtctcctgtgcgcAgtttacgagtcaggtcttct	11	12	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:64540944A>G	uc001obb.1	-	3	571	c.194T>C	c.(193-195)CTG>CCG	p.L65P	SF1_uc010rnn.1_Missense_Mutation_p.L39P|SF1_uc001oaz.1_Missense_Mutation_p.L190P|SF1_uc001oba.1_Missense_Mutation_p.L65P|SF1_uc001obc.1_Missense_Mutation_p.L65P|SF1_uc001obd.1_Missense_Mutation_p.L65P|SF1_uc001obe.1_Intron|SF1_uc010rno.1_Intron	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	65					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3						TCCTGTGCGCAGTTTACGAGT	0.433													G	64540944	A	G	64540944	3	3	27	1	0	0	0	0	1	0	0	0	14145	188	7	3	1907	3	SF1	11	64540944	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	32510	64540944	70465572	5261	29212											
MAP4K2	5871	broad.mit.edu	37	chr11	64559444	64559444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggacatggaacaggacgcGgcagccgggcccctcaggcc	15	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:64559444G>A	uc001obh.2	-	27	2121	c.2029C>T	c.(2029-2031)CGC>TGC	p.R677C	MAP4K2_uc001obg.2_RNA|MAP4K2_uc001obi.2_Missense_Mutation_p.R669C	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	677	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2						AACAGGACGCGGCAGCCGGGC	0.697													A	64559444	G	A	64559444	3	1	27	1	0	0	0	0	1	0	0	0	9260	1116	39	1	457	1	MAP4K2	11	64559444	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	18500	64559444	70447072	5262	29213											
MAP4K2	5871	broad.mit.edu	37	chr11	64566297	64566297	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctttcccagtagtgtccActcttcctcccactggggga	8	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:64566297A>G	uc001obh.2	-	15	1158	c.1066T>C	c.(1066-1068)TGG>CGG	p.W356R	MAP4K2_uc001obg.2_5'Flank|MAP4K2_uc001obi.2_Missense_Mutation_p.W356R	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	356					activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2						AGTAGTGTCCACTCTTCCTCC	0.522													G	64566297	A	G	64566297	3	3	27	1	0	0	0	0	1	0	0	0	9260	159	6	3	1468	3	MAP4K2	11	64566297	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	6853	64566297	70440219	5263	29214											
MAP4K2	5871	broad.mit.edu	37	chr11	64566894	64566894	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggcctgcccactcaccGgctcattcagtgggtcagtt	10	14	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:64566894G>T	uc001obh.2	-	14	1144	c.1052C>A	c.(1051-1053)CCG>CAG	p.P351Q	MAP4K2_uc001obi.2_Missense_Mutation_p.P351Q	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	351					activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2						CCCACTCACCGGCTCATTCAG	0.602													T	64566894	G	T	64566894	3	4	27	1	0	0	0	0	1	0	0	0	9260	1130	39	5	1486	5	MAP4K2	11	64566894	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	597	64566894	70439622	5264	29215											
SNX15	29907	broad.mit.edu	37	chr11	64802996	64802996	+	Frame_Shift_Del	DEL	C	C	-													cttatctcttcctcagtggaCcccccaccatccagccctgc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:64802995_64802995AC>A	uc001oci.4	+	8	1178	c.524_524AC>A	c.(523-525)gacfs	p.D175fs	SNX15_uc001ock.3_Frame_Shift_Del_p.D175fs	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	Homo sapiens sorting nexin 15 (SNX15), transcript variant A, mRNA.	175					cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TCCTCAGTGGACCCCCCACCA	0.547													-	64802996	C	-	64802996	7	5	27	1	0	1	0	1	0	0	0	0	14886	506	18	0	547	0	SNX15	11	64802996	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	236102	64802996	70203520	5265	29216											
ZNHIT2	741	broad.mit.edu	37	chr11	64884013	64884013	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggcggccacctcctcggcTaccacagcatgggcttggtg	14	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:64884013T>C	uc001ocw.2	-	1	1158	c.1113A>G	c.(1111-1113)GTA>GTG	p.V371V	uc009yqb.1_5'UTR	NM_014205	NP_055020	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT domain containing 2	371							metal ion binding			breast(1)	1						CCTCCTCGGCTACCACAGCAT	0.642													C	64884013	T	C	64884013	2	2	27	1	0	0	0	0	0	0	0	1	18204	1509	53	3		3	ZNHIT2	11	64884013	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	81017	64884013	70122503	5266	29217											
SPDYC	387778	broad.mit.edu	37	chr11	64939752	64939752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggtctacttccagcgCgcccacctgaagctcagcga	11	15	2	1	rs138896599		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:64939752C>T	uc010rnz.1	+	4	294	c.294C>T	c.(292-294)CGC>CGT	p.R98R		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	speedy C	98	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding				0						ACTTCCAGCGCGCCCACCTGA	0.597													T	64939752	C	T	64939752	2	4	27	1	0	0	0	0	0	0	0	1	15027	755	27	1		1	SPDYC	11	64939752	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	55739	64939752	70066764	5267	29218											
POLA2	23649	broad.mit.edu	37	chr11	65049201	65049201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgttgccaccaaactctacGaggtacacagcagtaccccc	7	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:65049201G>A	uc001odj.2	+	9	1303	c.961G>A	c.(961-963)GAG>AAG	p.E321K	POLA2_uc010rod.1_Missense_Mutation_p.E113K|POLA2_uc001odk.2_Missense_Mutation_p.E18K	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	DNA-directed DNA polymerase alpha 2	321					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)	CAAACTCTACGAGGTACACAG	0.443													A	65049201	G	A	65049201	3	1	27	1	0	0	0	0	1	0	0	0	12188	1059	37	1	995	1	POLA2	11	65049201	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	109449	65049201	69957315	5268	29219											
FRMD8	83786	broad.mit.edu	37	chr11	65178714	65178714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcccattccctcgcaggCaaggggatcaggcgagtgaa	12	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:65178714C>T	uc001odu.3	+	11	1470	c.1278C>T	c.(1276-1278)GGC>GGT	p.G426G	FRMD8_uc009yqj.2_Silent_p.G370G|FRMD8_uc010rof.1_Silent_p.G392G	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	426						cytoskeleton	binding			lung(1)|pancreas(1)	2						CCCTCGCAGGCAAGGGGATCA	0.672													T	65178714	C	T	65178714	2	4	27	1	0	0	0	0	0	0	0	1	6056	724	25	2		2	FRMD8	11	65178714	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	129513	65178714	69827802	5269	29220											
PCNXL3	399909	broad.mit.edu	37	chr11	65393441	65393441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcacacattacctgctgCcacaactccgcaaacagctg	5	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:65393441C>T	uc001oey.2	+	20	3295	c.3295C>T	c.(3295-3297)CCA>TCA	p.P1099S	PCNXL3_uc009yqn.2_Missense_Mutation_p.P59S|PCNXL3_uc001oez.2_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1099						integral to membrane					0						TTACCTGCTGCCACAACTCCG	0.612											OREG0021084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	65393441	C	T	65393441	3	4	27	1	0	0	0	0	1	0	0	0	11593	739	26	2	3373	2	PCNXL3	11	65393441	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	214727	65393441	69613075	5270	29221											
PCNXL3	399909	broad.mit.edu	37	chr11	65403965	65403965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgctgcagtggcctccCcctcggctccctggaccacc	9	21	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:65403965C>T	uc001oey.2	+	34	5697	c.5697C>T	c.(5695-5697)CCC>CCT	p.P1899P	PCNXL3_uc001oez.2_Silent_p.P786P	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1899	Gly-rich.					integral to membrane					0						AGTGGCCTCCCCCTCGGCTCC	0.721													T	65403965	C	T	65403965	2	4	27	1	0	0	0	0	0	0	0	1	11593	610	22	4		4	PCNXL3	11	65403965	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	10524	65403965	69602551	5271	29222											
CTSW	1521	broad.mit.edu	37	chr11	65650817	65650817	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcagagacagtctcatcGcagtctcagcctcagcctcc	10	15	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:65650817G>A	uc001ogc.1	+	9	984	c.942G>A	c.(940-942)TCG>TCA	p.S314S	CTSW_uc001ogb.1_Silent_p.S314S	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	314					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)		CAGTCTCATCGCAGTCTCAGC	0.592													A	65650817	G	A	65650817	2	1	27	1	0	0	0	0	0	0	0	1	4042	1074	38	1		1	CTSW	11	65650817	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	246852	65650817	69355699	5272	29223											
DRAP1	10589	broad.mit.edu	37	chr11	65688892	65688892	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgatgaagaggacgaagaaGattacgactcctagcgcctt	11	9	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:65688892G>T	uc001ogj.1	+	7	849	c.604G>T	c.(604-606)GAT>TAT	p.D202Y	C11orf68_uc009yqv.2_5'Flank|C11orf68_uc001ogi.2_5'Flank	NM_006442	NP_006433	Q14919	NC2A_HUMAN	DR1-associated protein 1	202					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0				READ - Rectum adenocarcinoma(159;0.166)		GGACGAAGAAGATTACGACTC	0.592													T	65688892	G	T	65688892	3	4	27	1	0	0	0	0	1	0	0	0	4755	942	33	5	630	5	DRAP1	11	65688892	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	38075	65688892	69317624	5273	29224											
EIF1AD	84285	broad.mit.edu	37	chr11	65767122	65767122	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttttctccctcttcaAtggggtcaacaatgagaaag	7	11	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:65767122A>G	uc001ogm.1	-	4	506	c.221T>C	c.(220-222)ATT>ACT	p.I74T	EIF1AD_uc001ogn.1_Missense_Mutation_p.I74T|BANF1_uc001ogo.2_5'Flank|BANF1_uc001ogp.2_5'Flank	NM_032325	NP_115701	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A	74	S1-like.					nucleus	translation initiation factor activity				0						TCCCTCTTCAATGGGGTCAAC	0.498													G	65767122	A	G	65767122	3	3	27	1	0	0	0	0	1	0	0	0	4991	101	4	3	288	3	EIF1AD	11	65767122	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	78230	65767122	69239394	5274	29225											
BANF1	8815	broad.mit.edu	37	chr11	65771097	65771097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttttccctgttttgcagGcctatgttgtccttggccag	9	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:65771097G>A	uc001ogo.2	+	3	632	c.124G>A	c.(124-126)GCC>ACC	p.A42T	EIF1AD_uc001ogm.1_5'Flank|EIF1AD_uc001ogn.1_5'Flank|BANF1_uc001ogp.2_Missense_Mutation_p.A42T	NM_003860	NP_003851	O75531	BAF_HUMAN	barrier to autointegration factor 1	42					initiation of viral infection|interspecies interaction between organisms|provirus integration|response to virus	chromosome|cytosol|nucleoplasm	DNA binding				0						TGTTTTGCAGGCCTATGTTGT	0.532													A	65771097	G	A	65771097	3	1	27	1	0	0	0	0	1	0	0	0	1307	1217	42	2	130	2	BANF1	11	65771097	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3975	65771097	69235419	5275	29226											
YIF1A	10897	broad.mit.edu	37	chr11	66052412	66052412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcgctgccgaacagcaGccccgtgagcacactgagga	12	15	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:66052412G>A	uc001ohk.3	-	7	849	c.667C>T	c.(667-669)CTG>TTG	p.L223L	YIF1A_uc001ohj.2_Silent_p.L80L	NM_020470	NP_065203	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog	223	Helical; (Potential).				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane					0						CCGAACAGCAGCCCCGTGAGC	0.632													A	66052412	G	A	66052412	2	1	27	1	0	0	0	0	0	0	0	1	17472	962	34	2		2	YIF1A	11	66052412	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	281315	66052412	68954104	5276	29227											
BRMS1	25855	broad.mit.edu	37	chr11	66106244	66106244	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatctcttgaagcatgtacAcgatgtatgggcctgtggtg	13	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:66106244A>C	uc001ohp.1	-	8	788	c.641T>G	c.(640-642)GTG>GGG	p.V214G	RIN1_uc009yrd.1_5'Flank|RIN1_uc001ohn.1_5'Flank|RIN1_uc010roz.1_5'Flank|RIN1_uc010rpa.1_5'Flank|BRMS1_uc001oho.1_Missense_Mutation_p.V214G|BRMS1_uc009yre.2_Missense_Mutation_p.V46G	NM_015399	NP_056214	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1 isoform 1	214					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding				0						AAGCATGTACACGATGTATGG	0.602													C	66106244	A	C	66106244	3	2	27	1	0	0	0	0	1	0	0	0	1516	159	6	5	255	5	BRMS1	11	66106244	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	53832	66106244	68900272	5277	29228											
NPAS4	266743	broad.mit.edu	37	chr11	66190621	66190621	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctacctgggctttgagcgCagtgaactgctttgtaaatc	10	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:66190621C>T	uc001ohx.1	+	5	902	c.726C>T	c.(724-726)CGC>CGT	p.R242R	NPAS4_uc010rpc.1_Intron	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	242	PAS 2.				transcription, DNA-dependent		DNA binding|signal transducer activity				0						GCTTTGAGCGCAGTGAACTGC	0.542													T	66190621	C	T	66190621	2	4	27	1	0	0	0	0	0	0	0	1	10565	697	25	2		2	NPAS4	11	66190621	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	84377	66190621	68815895	5278	29229											
BBS1	582	broad.mit.edu	37	chr11	66288771	66288771	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccagcgtccccgtcttcctaGaggtttctggccagtttgat	10	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:66288771G>T	uc001oij.1	+	9	766	c.754G>T	c.(754-756)GAG>TAG	p.E252*	BBS1_uc001oii.1_Nonsense_Mutation_p.E289*|BBS1_uc010rpf.1_RNA|BBS1_uc010rpg.1_Nonsense_Mutation_p.E155*|BBS1_uc001oik.1_Nonsense_Mutation_p.E176*|BBS1_uc001oil.1_Intron|ZDHHC24_uc001oim.1_RNA|ZDHHC24_uc009yrg.1_3'UTR|BBS1_uc010rph.1_5'Flank	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	252					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1						CGTCTTCCTAGAGGTTTCTGG	0.562									Bardet-Biedl_syndrome				T	66288771	G	T	66288771	4	4	27	1	0	0	0	0	0	1	0	0	1335	943	33	5	788	5	BBS1	11	66288771	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	98150	66288771	68717745	5279	29230											
CCDC87	55231	broad.mit.edu	37	chr11	66357969	66357969	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagctcctgaacagggTtgactggtggggatccttca	14	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:66357969T>A	uc001oiq.3	-	1	2586	c.2518A>T	c.(2518-2520)ACC>TCC	p.T840S	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	840										ovary(1)|skin(1)	2						CTGAACAGGGTTGACTGGTGG	0.577													A	66357969	T	A	66357969	3	1	27	1	0	0	0	0	1	0	0	0	2862	1725	60	5	35	5	CCDC87	11	66357969	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	69198	66357969	68648547	5280	29231											
RBM4	5936	broad.mit.edu	37	chr11	66411054	66411054	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgatagatcgttcaggccgCgtggcagacttgaccgagca	13	12	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:66411054C>A	uc009yrj.2	+	3	1034	c.546C>A	c.(544-546)CGC>CGA	p.R182R	RBM4_uc009yrk.2_Silent_p.R157R|RBM4_uc001oiw.1_Silent_p.R182R|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Silent_p.R182R|RBM4_uc001oiz.1_Silent_p.R182R	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	182					circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		GTTCAGGCCGCGTGGCAGACT	0.557													A	66411054	C	A	66411054	2	1	27	1	0	0	0	0	0	0	0	1	13134	755	27	5		5	RBM4	11	66411054	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	53085	66411054	68595462	5281	29232											
RBM4B	83759	broad.mit.edu	37	chr11	66436194	66436194	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcggaagcctgagataaTtcactctctggcccataacc	9	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:66436194T>C	uc001oja.2	-	2	1650	c.981A>G	c.(979-981)GAA>GAG	p.E327E	RBM4B_uc001ojb.2_Silent_p.E327E	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	327	Interaction with TNPO3 (By similarity).				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding				0						CCTGAGATAATTCACTCTCTG	0.557													C	66436194	T	C	66436194	2	2	27	1	0	0	0	0	0	0	0	1	13142	1490	52	3		3	RBM4B	11	66436194	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	25140	66436194	68570322	5282	29233											
RBM4B	83759	broad.mit.edu	37	chr11	66444271	66444271	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcaaacttggctcgaaGctcttggttggtacaagtgg	11	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:66444271G>T	uc001oja.2	-	1	949	c.280C>A	c.(280-282)CTT>ATT	p.L94I	RBM4B_uc001ojb.2_Missense_Mutation_p.L94I	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	94	RRM 2.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding				0						TTGGCTCGAAGCTCTTGGTTG	0.502													T	66444271	G	T	66444271	3	4	27	1	0	0	0	0	1	0	0	0	13142	971	34	5	807	5	RBM4B	11	66444271	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	8077	66444271	68562245	5283	29234											
SPTBN2	6712	broad.mit.edu	37	chr11	66453564	66453564	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaccacccgtagccacgaGctcatctctgcctgtggatg	9	15	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:66453564G>A	uc001ojd.2	-	37	7023	c.6951C>T	c.(6949-6951)AGC>AGT	p.S2317S	SPTBN2_uc001ojc.1_3'UTR	NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2317	PH.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GTAGCCACGAGCTCATCTCTG	0.602													A	66453564	G	A	66453564	2	1	27	1	0	0	0	0	0	0	0	1	15119	962	34	2		2	SPTBN2	11	66453564	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	9293	66453564	68552952	5284	29235											
SPTBN2	6712	broad.mit.edu	37	chr11	66476409	66476409	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagccggccctcgcggggCgtgtagaccttctggttgtt	15	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:66476409C>T	uc001ojd.2	-	10	1227	c.1155G>A	c.(1153-1155)ACG>ACA	p.T385T		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	385	Spectrin 1.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CCTCGCGGGGCGTGTAGACCT	0.627													T	66476409	C	T	66476409	2	4	27	1	0	0	0	0	0	0	0	1	15119	755	27	1		1	SPTBN2	11	66476409	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	22845	66476409	68530107	5285	29236											
C11orf80	79703	broad.mit.edu	37	chr11	66555668	66555668	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccggaatctctgcaaagctGacttggacttcagaggaagg	12	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:66555668G>A	uc001ojf.2	+	5	568	c.561G>A	c.(559-561)CTG>CTA	p.L187L	C11orf80_uc001ojg.2_5'UTR|C11orf80_uc001ojh.2_Intron|C11orf80_uc001oji.2_5'UTR|C11orf80_uc010rpk.1_Silent_p.L21L	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	hypothetical protein LOC79703	32											0						CTGCAAAGCTGACTTGGACTT	0.428													A	66555668	G	A	66555668	2	1	27	1	0	0	0	0	0	0	0	1	1664	1277	45	4		4	C11orf80	11	66555668	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	79259	66555668	68450848	5286	29237											
RCE1	9986	broad.mit.edu	37	chr11	66613379	66613379	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccttctgcaattacatggGtttcccagctgtttgcgcgg	10	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:66613379G>T	uc001ojk.1	+	8	847	c.803G>T	c.(802-804)GGT>GTT	p.G268V	RCE1_uc001ojl.1_Missense_Mutation_p.G164V	NM_005133	NP_005124	Q9Y256	FACE2_HUMAN	prenyl protein peptidase RCE1 isoform 1	268	Helical; (Potential).				proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			ovary(1)|breast(1)	2						AATTACATGGGTTTCCCAGCT	0.622													T	66613379	G	T	66613379	3	4	27	1	0	0	0	0	1	0	0	0	13176	1261	44	5	833	5	RCE1	11	66613379	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	57711	66613379	68393137	5287	29238											
PC	5091	broad.mit.edu	37	chr11	66617874	66617874	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtgcagtcgaaggccgcGtacagtccccgagccccctc	12	18	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:66617874G>A	uc001ojn.1	-	17	2584	c.2535C>T	c.(2533-2535)TAC>TAT	p.Y845Y	PC_uc001ojo.1_Silent_p.Y845Y|PC_uc001ojp.1_Silent_p.Y845Y|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	845					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGAAGGCCGCGTACAGTCCCC	0.597													A	66617874	G	A	66617874	2	1	27	1	0	0	0	0	0	0	0	1	11497	1140	40	1		1	PC	11	66617874	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4495	66617874	68388642	5288	29239											
KDM2A	22992	broad.mit.edu	37	chr11	67017889	67017889	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagaaagccaagatccggggAtcgtacctcactgtcacgct	11	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:67017889A>T	uc001ojw.2	+	17	3252	c.2388A>T	c.(2386-2388)GGA>GGT	p.G796G	KDM2A_uc001ojx.2_Intron|KDM2A_uc001ojy.2_Silent_p.G490G|KDM2A_uc010rpn.1_Silent_p.G357G|KDM2A_uc001ojz.1_Silent_p.G254G|KDM2A_uc001oka.2_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	796					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						AGATCCGGGGATCGTACCTCA	0.582													T	67017889	A	T	67017889	2	4	27	1	0	0	0	0	0	0	0	1	8124	320	12	5		5	KDM2A	11	67017889	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	400015	67017889	67988627	5289	29240											
RPS6KB2	6199	broad.mit.edu	37	chr11	67201901	67201901	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttcacacggcagacgccGgtggacagtcctgatgacac	12	14	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:67201901G>A	uc001old.2	+	13	1183	c.1101G>A	c.(1099-1101)CCG>CCA	p.P367P	RPS6KB2_uc001olf.2_Silent_p.P167P|RPS6KB2_uc001olg.2_Silent_p.P367P|RPS6KB2_uc009yrq.2_Silent_p.P167P|RPS6KB2_uc001ole.2_RNA|RPS6KB2_uc001olh.2_RNA|RPS6KB2_uc009yrr.2_Silent_p.P198P	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	367	AGC-kinase C-terminal.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)|salivary_gland(1)	7			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GGCAGACGCCGGTGGACAGTC	0.647													A	67201901	G	A	67201901	2	1	27	1	0	0	0	0	0	0	0	1	13657	1103	39	1		1	RPS6KB2	11	67201901	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	184012	67201901	67804615	5290	29241											
PITPNM1	9600	broad.mit.edu	37	chr11	67270088	67270088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccacgtggtacaccttGtgtgtgtattgcccgctgcc	12	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:67270088G>A	uc001olx.2	-	2	369	c.180C>T	c.(178-180)CAC>CAT	p.H60H	PITPNM1_uc001oly.2_Silent_p.H60H|PITPNM1_uc001olz.2_Silent_p.H60H	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	60					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						GGTACACCTTGTGTGTGTATT	0.642													A	67270088	G	A	67270088	2	1	27	1	0	0	0	0	0	0	0	1	11950	1368	48	4		4	PITPNM1	11	67270088	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	68187	67270088	67736428	5291	29242											
CABP2	51475	broad.mit.edu	37	chr11	67287411	67287411	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgtccccattggtgtcgaActgtggcggcgttggttgtg	16	10	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:67287411A>G	uc001omc.1	-	6	592	c.490T>C	c.(490-492)TTC>CTC	p.F164L	CABP2_uc001omd.1_Missense_Mutation_p.F107L|CABP2_uc001ome.1_Missense_Mutation_p.F170L	NM_016366	NP_057450	Q9NPB3	CABP2_HUMAN	calcium binding protein 2 isoform 1	164	EF-hand 3.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1						TTGGTGTCGAACTGTGGCGGC	0.692													G	67287411	A	G	67287411	3	3	27	1	0	0	0	0	1	0	0	0	2532	57	2	3	180	3	CABP2	11	67287411	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	17323	67287411	67719105	5292	29243											
ALDH3B2	222	broad.mit.edu	37	chr11	67432984	67432984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggccacgcaggtctggcCggcattgaagtagcagaacc	15	11	1	2	rs149584817	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:67432984C>T	uc001omr.2	-	7	917	c.478G>A	c.(478-480)GGC>AGC	p.G160S	ALDH3B2_uc001oms.2_Missense_Mutation_p.G160S|ALDH3B2_uc009ysa.1_Missense_Mutation_p.G160S	NM_000695	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3B2	160					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			lung(1)|kidney(1)	2					NADH(DB00157)	CAGGTCTGGCCGGCATTGAAG	0.657													T	67432984	C	T	67432984	3	4	27	1	0	0	0	0	1	0	0	0	500	652	23	1	695	1	ALDH3B2	11	67432984	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	145573	67432984	67573532	5293	29244											
NDUFS8	4728	broad.mit.edu	37	chr11	67799623	67799623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttttatgccaccagatgcGctgcctgaccacgcctatgc	8	15	0	2	rs139334907	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:67799623G>A	uc001onc.2	+	2	112	c.5G>A	c.(4-6)CGC>CAC	p.R2H	NDUFS8_uc010rpz.1_Missense_Mutation_p.R2H|NDUFS8_uc009ysb.1_Intron|NDUFS8_uc009ysc.1_Missense_Mutation_p.R2H	NM_002496	NP_002487	O00217	NDUS8_HUMAN	NADH dehydrogenase ubiquinone Fe-S 8 precursor	2					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			skin(1)	1					NADH(DB00157)	CACCAGATGCGCTGCCTGACC	0.602													A	67799623	G	A	67799623	3	1	27	1	0	0	0	0	1	0	0	0	10298	1087	38	1	7	1	NDUFS8	11	67799623	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	366639	67799623	67206893	5294	29245											
NDUFS8	4728	broad.mit.edu	37	chr11	67804031	67804031	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaggccgagatcgccgccAacatccaggctgactacttg	13	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:67804031A>G	uc001onc.2	+	7	711	c.604A>G	c.(604-606)AAC>GAC	p.N202D	NDUFS8_uc009ysb.1_RNA|NDUFS8_uc009ysc.1_3'UTR|TCIRG1_uc001ond.1_5'Flank|TCIRG1_uc001one.2_5'Flank	NM_002496	NP_002487	O00217	NDUS8_HUMAN	NADH dehydrogenase ubiquinone Fe-S 8 precursor	202					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			skin(1)	1					NADH(DB00157)	GATCGCCGCCAACATCCAGGC	0.592													G	67804031	A	G	67804031	3	3	27	1	0	0	0	0	1	0	0	0	10298	130	5	3	626	3	NDUFS8	11	67804031	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4408	67804031	67202485	5295	29246											
C11orf24	53838	broad.mit.edu	37	chr11	68031218	68031218	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagaaaatccaaatgagCacaagagctgtccacatctt	8	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:68031218C>T	uc001onr.3	-	3	460	c.18G>A	c.(16-18)GTG>GTA	p.V6V	C11orf24_uc001ons.2_Silent_p.V6V	NM_022338	NP_071733	Q96F05	CK024_HUMAN	hypothetical protein LOC53838 precursor	6						integral to membrane					0						TCCAAATGAGCACAAGAGCTG	0.577													T	68031218	C	T	68031218	2	4	27	1	0	0	0	0	0	0	0	1	1635	697	25	2		2	C11orf24	11	68031218	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	227187	68031218	66975298	5296	29247											
IGHMBP2	3508	broad.mit.edu	37	chr11	68682445	68682445	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggttttagcgcggagcgacaGtgcccagattgttgcagata	14	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:68682445G>C	uc001ook.1	+	6	968	c.866G>C	c.(865-867)AGT>ACT	p.S289T	IGHMBP2_uc001ooj.1_RNA	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	289	Leu-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGGAGCGACAGTGCCCAGATT	0.582													C	68682445	G	C	68682445	3	2	27	1	0	0	0	0	1	0	0	0	7591	1029	36	5	888	5	IGHMBP2	11	68682445	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	651227	68682445	66324071	5297	29248											
ANO1	55107	broad.mit.edu	37	chr11	70007370	70007370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgtgcggtccaacatccGggtcacagtcacagccaccg	10	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:70007370G>A	uc001opj.2	+	17	1987	c.1682G>A	c.(1681-1683)CGG>CAG	p.R561Q	ANO1_uc001opk.1_Missense_Mutation_p.R503Q|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.R270Q	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	561	Extracellular (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						TCCAACATCCGGGTCACAGTC	0.587													A	70007370	G	A	70007370	3	1	27	1	0	0	0	0	1	0	0	0	695	1116	39	1	1748	1	ANO1	11	70007370	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1324925	70007370	64999146	5298	29249											
NADSYN1	55191	broad.mit.edu	37	chr11	71209571	71209571	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagtttcggtgcatagaaaaTcaggtaaatccagcagaaat	9	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:71209571T>A	uc001oqn.2	+	20	2193	c.2067T>A	c.(2065-2067)AAT>AAA	p.N689K	NADSYN1_uc001oqo.2_Missense_Mutation_p.N429K|NADSYN1_uc001oqp.2_Missense_Mutation_p.N318K	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	689	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCATAGAAAATCAGGTAAATC	0.428													A	71209571	T	A	71209571	3	1	27	1	0	0	0	0	1	0	0	0	10138	1432	50	5	2145	5	NADSYN1	11	71209571	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1202201	71209571	63796945	5299	29250											
KRTAP5-10	387273	broad.mit.edu	37	chr11	71276712	71276712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgggggctgtggctccGgctgtgggggctatggctct	20	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:71276712G>A	uc001oqt.1	+	1	104	c.79G>A	c.(79-81)GGC>AGC	p.G27S		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	27						keratin filament				skin(1)	1						CTGTGGCTCCGGCTGTGGGGG	0.672													A	71276712	G	A	71276712	3	1	27	1	0	0	0	0	1	0	0	0	8559	1116	39	1	81	1	KRTAP5-10	11	71276712	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	67141	71276712	63729804	5300	29251											
FOLR2	2350	broad.mit.edu	37	chr11	71932594	71932594	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagctgccctttgtgaaggcCtctggagtcactcatacaag	10	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:71932594C>A	uc009ytd.2	+	5	725	c.556C>A	c.(556-558)CTC>ATC	p.L186I	FOLR2_uc009yte.2_Missense_Mutation_p.L186I|FOLR2_uc001ose.3_Missense_Mutation_p.L186I|FOLR2_uc009ytf.2_Missense_Mutation_p.L186I	NM_001113534	NP_001107006	P14207	FOLR2_HUMAN	folate receptor 2 precursor	186					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(2)|ovary(1)	3					Folic Acid(DB00158)	TTGTGAAGGCCTCTGGAGTCA	0.587													A	71932594	C	A	71932594	3	1	27	1	0	0	0	0	1	0	0	0	5982	681	24	5	570	5	FOLR2	11	71932594	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	655882	71932594	63073922	5301	29252											
INPPL1	3636	broad.mit.edu	37	chr11	71942175	71942175	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaactcagtgggcgaccgcgAgtggctggacctactgcgcg	16	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:71942175A>G	uc001osf.2	+	12	1586	c.1439A>G	c.(1438-1440)GAG>GGG	p.E480G	INPPL1_uc001osg.2_Missense_Mutation_p.E238G	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	480					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						GGCGACCGCGAGTGGCTGGAC	0.607													G	71942175	A	G	71942175	3	3	27	1	0	0	0	0	1	0	0	0	7761	304	11	3	1485	3	INPPL1	11	71942175	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	9581	71942175	63064341	5302	29253											
INPPL1	3636	broad.mit.edu	37	chr11	71942618	71942618	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagaaccgtatcagccatgTcagtacgtccagtgtgaaga	11	10	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:71942618T>C	uc001osf.2	+	13	1721	c.1574T>C	c.(1573-1575)GTC>GCC	p.V525A	INPPL1_uc001osg.2_Missense_Mutation_p.V283A	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	525					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						ATCAGCCATGTCAGTACGTCC	0.562													C	71942618	T	C	71942618	3	2	27	1	0	0	0	0	1	0	0	0	7761	1667	58	3	1624	3	INPPL1	11	71942618	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	443	71942618	63063898	5303	29254											
INPPL1	3636	broad.mit.edu	37	chr11	71946494	71946494	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacccgtgagcggctctaCggtggggactccactgggac	16	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:71946494C>T	uc001osf.2	+	23	2805	c.2658C>T	c.(2656-2658)TAC>TAT	p.Y886Y	INPPL1_uc001osg.2_Silent_p.Y644Y	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	886					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						AGCGGCTCTACGGTGGGGACT	0.617													T	71946494	C	T	71946494	2	4	27	1	0	0	0	0	0	0	0	1	7761	550	19	1		1	INPPL1	11	71946494	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3876	71946494	63060022	5304	29255											
INPPL1	3636	broad.mit.edu	37	chr11	71946764	71946764	+	Frame_Shift_Del	DEL	C	C	-													ggcaggagcaaagagcaaagCcccctctgtgtcccgaggga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:71946763_71946763GC>G	uc001osf.3	+	23	2851	c.2704_2704GC>G	c.(2704-2706)gccfs	p.A902fs	INPPL1_uc001osg.3_Frame_Shift_Del_p.A660fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	902					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AAAGAGCAAAGCCCCCTCTGT	0.582													-	71946764	C	-	71946764	7	5	27	1	0	1	0	1	0	0	0	0	7761	739	26	0	2799	0	INPPL1	11	71946764	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	270	71946764	63059752	5305	29256											
PDE2A	5138	broad.mit.edu	37	chr11	72295608	72295608	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgcgcaccctggttctcgttCttgatggggaagcagaggat	14	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:72295608C>T	uc010rrc.1	-	18	1767	c.1524G>A	c.(1522-1524)AAG>AAA	p.K508K	PDE2A_uc001oso.2_Silent_p.K487K|PDE2A_uc010rra.1_Silent_p.K501K|PDE2A_uc001osn.2_Silent_p.K252K|PDE2A_uc010rrb.1_Silent_p.K499K|PDE2A_uc010rrd.1_Silent_p.K393K	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	508	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GGTTCTCGTTCTTGATGGGGA	0.493													T	72295608	C	T	72295608	2	4	27	1	0	0	0	0	0	0	0	1	11636	912	32	4		4	PDE2A	11	72295608	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	348844	72295608	62710908	5306	29257											
FCHSD2	9873	broad.mit.edu	37	chr11	72554356	72554356	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggcacataacccacttgGccaactttatttcgagcctg	7	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:72554356G>A	uc009ytl.2	-	16	1766	c.1545C>T	c.(1543-1545)GGC>GGT	p.G515G	FCHSD2_uc010rrg.1_Silent_p.G379G|FCHSD2_uc001oth.3_Silent_p.G459G|FCHSD2_uc001oti.2_Silent_p.G474G|ATG16L2_uc009ytj.1_3'UTR	NM_014824	NP_055639	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	515	SH3 1.						protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			AACCCACTTGGCCAACTTTAT	0.463													A	72554356	G	A	72554356	2	1	27	1	0	0	0	0	0	0	0	1	5790	1190	42	2		2	FCHSD2	11	72554356	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	258748	72554356	62452160	5307	29258											
P4HA3	283208	broad.mit.edu	37	chr11	74009355	74009355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcggaagagactgacagCctcctccagccatggaatgg	11	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:74009355C>T	uc001ouz.2	-	4	662	c.619G>A	c.(619-621)GCT>ACT	p.A207T	P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Missense_Mutation_p.A207T	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha III subunit	207						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			skin(1)	1	Breast(11;2.31e-05)					AGACTGACAGCCTCCTCCAGC	0.498													T	74009355	C	T	74009355	3	4	27	1	0	0	0	0	1	0	0	0	11358	739	26	2	1055	2	P4HA3	11	74009355	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1454999	74009355	60997161	5308	29259											
POLD3	10714	broad.mit.edu	37	chr11	74315765	74315765	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgattatgttgaaaggaaaCgaaaagaaaattcaggagcc	10	4	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:74315765C>T	uc001ovf.1	+	3	220	c.145C>T	c.(145-147)CGA>TGA	p.R49*	POLD3_uc009yua.1_Intron	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	DNA-directed DNA polymerase delta 3	49					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			kidney(2)|ovary(1)	3	Breast(11;3.21e-06)					TGAAAGGAAACGAAAAGAAAA	0.378													T	74315765	C	T	74315765	4	4	27	1	0	0	0	0	0	1	0	0	12192	528	19	1	155	1	POLD3	11	74315765	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	306410	74315765	60690751	5309	29260											
POLD3	10714	broad.mit.edu	37	chr11	74347275	74347275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacaaaagaaaacgaaaaCgcgtactaaaatctaaaact	4	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:74347275C>T	uc001ovf.1	+	11	1228	c.1153C>T	c.(1153-1155)CGC>TGC	p.R385C	POLD3_uc009yua.1_Missense_Mutation_p.R279C	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	DNA-directed DNA polymerase delta 3	385					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			kidney(2)|ovary(1)	3	Breast(11;3.21e-06)					AAAACGAAAACGCGTACTAAA	0.358													T	74347275	C	T	74347275	3	4	27	1	0	0	0	0	1	0	0	0	12192	536	19	1	1195	1	POLD3	11	74347275	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	31510	74347275	60659241	5310	29261											
POLD3	10714	broad.mit.edu	37	chr11	74351624	74351624	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagtgactgaaaaagtctAcgagagtgaatcctgcacag	10	9	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:74351624A>G	uc001ovf.1	+	12	1289	c.1214A>G	c.(1213-1215)TAC>TGC	p.Y405C	POLD3_uc009yua.1_Missense_Mutation_p.Y299C	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	DNA-directed DNA polymerase delta 3	405					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			kidney(2)|ovary(1)	3	Breast(11;3.21e-06)					GAAAAAGTCTACGAGAGTGAA	0.438													G	74351624	A	G	74351624	3	3	27	1	0	0	0	0	1	0	0	0	12192	391	14	3	1260	3	POLD3	11	74351624	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4349	74351624	60654892	5311	29262											
CHRDL2	25884	broad.mit.edu	37	chr11	74421942	74421942	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggcgggaggggaacagCtcatgggcactgaagatctc	17	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:74421942C>T	uc001ovi.2	-	4	637	c.384G>A	c.(382-384)GAG>GAA	p.E128E	CHRDL2_uc001ovg.2_Silent_p.E12E|CHRDL2_uc001ovh.2_Silent_p.E128E|CHRDL2_uc001ovk.1_Silent_p.E128E			Q6WN34	CRDL2_HUMAN	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;	128	VWFC 2.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion					0	Hepatocellular(1;0.098)					AGGGGAACAGCTCATGGGCAC	0.607													T	74421942	C	T	74421942	2	4	27	1	0	0	0	0	0	0	0	1	3374	796	28	2		2	CHRDL2	11	74421942	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	70318	74421942	60584574	5312	29263											
XRRA1	143570	broad.mit.edu	37	chr11	74570275	74570275	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctggttcctggccttcagTgacttcacaggaaggatctc	11	11	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:74570275T>C	uc009yub.2	-	12	1406	c.1074A>G	c.(1072-1074)TCA>TCG	p.S358S	XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovn.2_Intron|XRRA1_uc001ovo.2_Intron|XRRA1_uc001ovq.3_Intron|XRRA1_uc001ovp.3_Intron|XRRA1_uc001ovr.2_Intron|XRRA1_uc001ovt.2_Missense_Mutation_p.T112A|XRRA1_uc001ovs.1_Intron	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	358					response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1						TGGCCTTCAGTGACTTCACAG	0.463													C	74570275	T	C	74570275	2	2	27	1	0	0	0	0	0	0	0	1	17458	1683	59	3		3	XRRA1	11	74570275	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	148333	74570275	60436241	5313	29264											
ARRB1	408	broad.mit.edu	37	chr11	74993028	74993028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccgtgtcttcgggccccGgctgcagtgtcacagaacat	11	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:74993028G>A	uc001owe.1	-	6	614	c.392C>T	c.(391-393)CCG>CTG	p.P131L	ARRB1_uc001owf.1_Missense_Mutation_p.P131L	NM_004041	NP_004032	P49407	ARRB1_HUMAN	arrestin beta 1 isoform A	131	Interaction with SRC (By similarity).				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(2)	2						TTCGGGCCCCGGCTGCAGTGT	0.582													A	74993028	G	A	74993028	3	1	27	1	0	0	0	0	1	0	0	0	980	1116	39	1	908	1	ARRB1	11	74993028	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	422753	74993028	60013488	5314	29265											
RPS3	6188	broad.mit.edu	37	chr11	75115222	75115222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttaactactacgttgacaCtgctgtgcgccacgtgttgc	10	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:75115222C>T	uc001owh.2	+	5	539	c.509C>T	c.(508-510)ACT>ATT	p.T170I	RPS3_uc001owi.2_Missense_Mutation_p.T170I|RPS3_uc001owk.1_Missense_Mutation_p.T44I|SNORD15B_uc001owl.1_5'Flank	NM_001005	NP_000996	P23396	RS3_HUMAN	ribosomal protein S3	170					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome				0						TACGTTGACACTGCTGTGCGC	0.507													T	75115222	C	T	75115222	3	4	27	1	0	0	0	0	1	0	0	0	13643	565	20	4	527	4	RPS3	11	75115222	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	122194	75115222	59891294	5315	29266											
UVRAG	7405	broad.mit.edu	37	chr11	75694518	75694518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctttgggacgggaggtgGcattactgcataagcaacaa	13	7	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:75694518G>A	uc001oxc.2	+	8	1028	c.787G>A	c.(787-789)GCA>ACA	p.A263T	UVRAG_uc010rrw.1_Missense_Mutation_p.A162T|UVRAG_uc001oxd.2_5'UTR|UVRAG_uc010rrx.1_5'UTR|UVRAG_uc009yuh.1_RNA	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	263	Potential.				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			skin(4)|lung(2)	6						ACGGGAGGTGGCATTACTGCA	0.378													A	75694518	G	A	75694518	3	1	27	1	0	0	0	0	1	0	0	0	17105	1203	42	2	817	2	UVRAG	11	75694518	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	579296	75694518	59311998	5316	29267											
TSKU	25987	broad.mit.edu	37	chr11	76507436	76507436	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctaccgggcctgcaggtccTggacctgtcgggcaacccca	13	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:76507436T>A	uc001oxt.2	+	2	948	c.776T>A	c.(775-777)CTG>CAG	p.L259Q		NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	tsukushin precursor	259	LRR 9.					extracellular region					0	Ovarian(111;0.112)					CTGCAGGTCCTGGACCTGTCG	0.657													A	76507436	T	A	76507436	3	1	27	1	0	0	0	0	1	0	0	0	16624	1580	55	5	778	5	TSKU	11	76507436	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	812918	76507436	58499080	5317	29268											
OMP	4975	broad.mit.edu	37	chr11	76814187	76814187	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgacacgccagctgctggAccccactgccatcttctggc	9	17	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:76814187A>G	uc010rsk.1	+	1	302	c.302A>G	c.(301-303)GAC>GGC	p.D101G	CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron	NM_006189	NP_006180	P47874	OMP_HUMAN	olfactory marker protein	101					sensory perception of smell|synaptic transmission						0						CAGCTGCTGGACCCCACTGCC	0.617													G	76814187	A	G	76814187	3	3	27	1	0	0	0	0	1	0	0	0	10867	275	10	3	304	3	OMP	11	76814187	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	306751	76814187	58192329	5318	29269											
PAK1	5058	broad.mit.edu	37	chr11	77091002	77091002	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaaaatctgaagggagAgaaatctctggccgctcttt	10	8	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:77091002A>C	uc001oyh.3	-	3	761	c.228T>G	c.(226-228)TCT>TCG	p.S76S	PAK1_uc010rso.1_5'UTR|PAK1_uc001oyg.3_Silent_p.S76S|PAK1_uc001oyi.1_Silent_p.S76S	NM_002576	NP_002567	Q13153	PAK1_HUMAN	p21-activated kinase 1 isoform 2	76	CRIB.|GTPase-binding (By similarity).|Autoregulatory region.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			skin(2)|stomach(1)|lung(1)	4	all_cancers(14;1.75e-18)					CTGAAGGGAGAGAAATCTCTG	0.378													C	77091002	A	C	77091002	2	2	27	1	0	0	0	0	0	0	0	1	11399	291	11	5		5	PAK1	11	77091002	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	276815	77091002	57915514	5319	29270											
RSF1	51773	broad.mit.edu	37	chr11	77409545	77409545	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacatactagctcaggatggTttggaaggccacattttttg	10	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:77409545T>G	uc001oyn.2	-	7	2822	c.2702A>C	c.(2701-2703)AAC>ACC	p.N901T	RSF1_uc001oym.2_Missense_Mutation_p.N649T	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	901	PHD-type.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTCAGGATGGTTTGGAAGGCC	0.418													G	77409545	T	G	77409545	3	3	27	1	0	0	0	0	1	0	0	0	13699	1725	60	5	1663	5	RSF1	11	77409545	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	318543	77409545	57596971	5320	29271											
INTS4	92105	broad.mit.edu	37	chr11	77639459	77639459	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttagagatttttctcatggTatgtatagactgcagacgta	10	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:77639459T>C	uc001oys.2	-	11	1328	c.1300A>G	c.(1300-1302)ACC>GCC	p.T434A	INTS4_uc001oyt.2_RNA|INTS4_uc001oyu.1_Missense_Mutation_p.T434A	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	434	HEAT 7.				snRNA processing	integrator complex	protein binding			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TTTCTCATGGTATGTATAGAC	0.433													C	77639459	T	C	77639459	3	2	27	1	0	0	0	0	1	0	0	0	7780	1638	57	3	1643	3	INTS4	11	77639459	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	229914	77639459	57367057	5321	29272											
ALG8	79053	broad.mit.edu	37	chr11	77817965	77817965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcctctgggcccttgggGtttaaaccaaagacagaaaa	10	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:77817965G>A	uc001oza.1	-	10	1131	c.1066C>T	c.(1066-1068)CCC>TCC	p.P356S	ALG8_uc001oyz.1_Missense_Mutation_p.P356S|ALG8_uc009yux.1_Missense_Mutation_p.P254S	NM_024079	NP_076984	Q9BVK2	ALG8_HUMAN	dolichyl pyrophosphate Glc1Man9GlcNAc2	356					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			ovary(2)|pancreas(1)	3	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			GGCCCTTGGGGTTTAAACCAA	0.408													A	77817965	G	A	77817965	3	1	27	1	0	0	0	0	1	0	0	0	523	1261	44	4	589	4	ALG8	11	77817965	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	178506	77817965	57188551	5322	29273											
KCTD21	283219	broad.mit.edu	37	chr11	77885115	77885115	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccattggagcagtagaagagCttagagccaaggagcttgag	14	7	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:77885115C>A	uc001ozb.2	-	2	561	c.486G>T	c.(484-486)AAG>AAT	p.K162N		NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	potassium channel tetramerisation domain	162						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			AGTAGAAGAGCTTAGAGCCAA	0.572													A	77885115	C	A	77885115	3	1	27	1	0	0	0	0	1	0	0	0	8109	796	28	5	300	5	KCTD21	11	77885115	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	67150	77885115	57121401	5323	29274											
KCTD21	283219	broad.mit.edu	37	chr11	77885584	77885584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttccccccgacgttcagcGtgatggggtcggacatggca	14	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:77885584G>A	uc001ozb.2	-	2	92	c.17C>T	c.(16-18)ACG>ATG	p.T6M		NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	potassium channel tetramerisation domain	6	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GACGTTCAGCGTGATGGGGTC	0.552													A	77885584	G	A	77885584	3	1	27	1	0	0	0	0	1	0	0	0	8109	1145	40	1	769	1	KCTD21	11	77885584	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	469	77885584	57120932	5324	29275											
USP35	57558	broad.mit.edu	37	chr11	77921303	77921303	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtggagctgagccaagggcCgtgctacctcatcctcacac	12	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:77921303C>A	uc009yva.1	+	10	2648	c.2402C>A	c.(2401-2403)CCG>CAG	p.P801Q	USP35_uc001oze.2_Missense_Mutation_p.P557Q|USP35_uc001ozc.2_Missense_Mutation_p.P369Q|USP35_uc010rsp.1_Missense_Mutation_p.P233Q|USP35_uc001ozd.2_Missense_Mutation_p.P412Q|USP35_uc001ozf.2_Missense_Mutation_p.P532Q	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	801					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			AGCCAAGGGCCGTGCTACCTC	0.622													A	77921303	C	A	77921303	3	1	27	1	0	0	0	0	1	0	0	0	17063	652	23	5	2436	5	USP35	11	77921303	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	35719	77921303	57085213	5325	29276											
ODZ4	26011	broad.mit.edu	37	chr11	78369545	78369545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaggtcaccttctgaaggtCctggtttcacaaagtaatgg	10	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:78369545C>T	uc001ozl.3	-	34	8331	c.7868G>A	c.(7867-7869)GGA>GAA	p.G2623E	ODZ4_uc001ozk.3_Missense_Mutation_p.G848E|ODZ4_uc009yvb.1_Intron	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2623	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						TTCTGAAGGTCCTGGTTTCAC	0.552													T	78369545	C	T	78369545	3	4	27	1	0	0	0	0	1	0	0	0	10837	855	30	4	445	4	ODZ4	11	78369545	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	448242	78369545	56636971	5326	29277											
PCF11	51585	broad.mit.edu	37	chr11	82877480	82877480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaagtatgtctccaacatCgacacctaaagctggaaaga	8	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:82877480C>T	uc001ozx.3	+	5	1886	c.1541C>T	c.(1540-1542)TCG>TTG	p.S514L	PCF11_uc010rsu.1_Missense_Mutation_p.S514L	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	514					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						TCTCCAACATCGACACCTAAA	0.448													T	82877480	C	T	82877480	3	4	27	1	0	0	0	0	1	0	0	0	11573	893	31	1	1559	1	PCF11	11	82877480	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4507935	82877480	52129036	5327	29278											
PCF11	51585	broad.mit.edu	37	chr11	82878291	82878291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatcgattaagtgtagatGccaatcttcagattcctaaa	7	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:82878291G>A	uc001ozx.3	+	6	2287	c.1942G>A	c.(1942-1944)GCC>ACC	p.A648T	PCF11_uc010rsu.1_Missense_Mutation_p.A648T	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	648					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						AAGTGTAGATGCCAATCTTCA	0.393													A	82878291	G	A	82878291	3	1	27	1	0	0	0	0	1	0	0	0	11573	1319	46	2	1964	2	PCF11	11	82878291	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	811	82878291	52128225	5328	29279											
PCF11	51585	broad.mit.edu	37	chr11	82880832	82880832	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccatcccaaggactacagtTccaaagacatgaacaaatat	5	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:82880832T>C	uc001ozx.3	+	8	3800	c.3455T>C	c.(3454-3456)TTC>TCC	p.F1152S	PCF11_uc010rsu.1_Missense_Mutation_p.F1283S	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	1152					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						GGACTACAGTTCCAAAGACAT	0.413													C	82880832	T	C	82880832	3	2	27	1	0	0	0	0	1	0	0	0	11573	1783	62	3	3485	3	PCF11	11	82880832	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2541	82880832	52125684	5329	29280											
CCDC90B	60492	broad.mit.edu	37	chr11	82989855	82989855	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctgatacaattgtttctgCttgtgttttgtcaaatcctg	8	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:82989855C>A	uc001pae.2	-	3	600	c.238G>T	c.(238-240)GCA>TCA	p.A80S	CCDC90B_uc001pac.2_5'UTR|CCDC90B_uc001pad.2_5'UTR|CCDC90B_uc001paf.2_Missense_Mutation_p.A71S	NM_021825	NP_068597	Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B precursor	80						integral to membrane|mitochondrion|mitochondrion					0		Acute lymphoblastic leukemia(157;0.103)				ATTGTTTCTGCTTGTGTTTTG	0.338													A	82989855	C	A	82989855	3	1	27	1	0	0	0	0	1	0	0	0	2869	797	28	5	554	5	CCDC90B	11	82989855	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	109023	82989855	52016661	5330	29281											
CREBZF	58487	broad.mit.edu	37	chr11	85375106	85375106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagtccagtctcgttggCtaagactgcccgtaggtagc	12	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:85375106C>T	uc001pas.2	-	1	1077	c.814G>A	c.(814-816)GCC>ACC	p.A272T	CREBZF_uc010rtc.1_RNA|CREBZF_uc010rtd.1_RNA	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	HCF-binding transcription factor Zhangfei	272					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				GTCTCGTTGGCTAAGACTGCC	0.657											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	85375106	C	T	85375106	3	4	27	1	0	0	0	0	1	0	0	0	3863	797	28	2	254	2	CREBZF	11	85375106	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2385251	85375106	49631410	5331	29282											
SYTL2	54843	broad.mit.edu	37	chr11	85445705	85445705	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacccatttgaaaggcctgGcaaagtctgctttgatttct	10	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:85445705G>T	uc010rth.1	-	6	940	c.664C>A	c.(664-666)CCA>ACA	p.P222T	SYTL2_uc010rtg.1_Missense_Mutation_p.P223T|SYTL2_uc010rti.1_Missense_Mutation_p.P222T|SYTL2_uc010rtj.1_Missense_Mutation_p.P174T|SYTL2_uc001pbf.3_Missense_Mutation_p.P222T|SYTL2_uc010rtf.1_Missense_Mutation_p.P80T	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	222					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GAAAGGCCTGGCAAAGTCTGC	0.373													T	85445705	G	T	85445705	3	4	27	1	0	0	0	0	1	0	0	0	15480	1203	42	5	4673	5	SYTL2	11	85445705	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	70599	85445705	49560811	5332	29283											
C11orf73	51501	broad.mit.edu	37	chr11	86017344	86017344	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttttgacttacctgatTatgaaagtatcaaccatgtt	6	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:86017344T>C	uc001pbu.2	+	2	326	c.88T>C	c.(88-90)TAT>CAT	p.Y30H	C11orf73_uc001pbt.2_Missense_Mutation_p.Y30H|C11orf73_uc010rto.1_Intron|C11orf73_uc010rtp.1_Intron|C11orf73_uc001pbv.2_RNA	NM_016401	NP_057485	Q53FT3	CK073_HUMAN	lethal, Chr 7, Rinchik 6	30						cytoplasm					0		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)				CTTACCTGATTATGAAAGTAT	0.388													C	86017344	T	C	86017344	3	2	27	1	0	0	0	0	1	0	0	0	1661	1754	61	3	94	3	C11orf73	11	86017344	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	571639	86017344	48989172	5333	29284											
CCDC81	60494	broad.mit.edu	37	chr11	86097108	86097108	+	Frame_Shift_Del	DEL	G	G	-													ttcagaagtctctattatctGggggaatgtatcagaatttg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:86097107_86097107TG>T	uc001pbx.2	+	1	522	c.94_94TG>T	c.(94-96)tggfs	p.W32fs	CCDC81_uc001pbw.2_Frame_Shift_Del_p.W32fs	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	32										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CTCTATTATCTGGGGGAATGT	0.264													-	86097108	G	-	86097108	7	5	27	1	0	1	0	1	0	0	0	0	2855	1357	47	0	101	0	CCDC81	11	86097108	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	79764	86097108	48909408	5334	29285											
CCDC81	60494	broad.mit.edu	37	chr11	86106389	86106389	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctagaggcctggcactgTggactcggtgttgtctagca	13	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:86106389T>C	uc001pbx.1	+	5	997	c.569T>C	c.(568-570)GTG>GCG	p.V190A	CCDC81_uc001pbw.1_Missense_Mutation_p.V100A|CCDC81_uc010rtq.1_5'UTR|CCDC81_uc001pby.1_5'UTR	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81 isoform 1	190										skin(1)	1		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CCTGGCACTGTGGACTCGGTG	0.537													C	86106389	T	C	86106389	3	2	27	1	0	0	0	0	1	0	0	0	2855	1696	59	3	587	3	CCDC81	11	86106389	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9281	86106389	48900127	5335	29286											
FZD4	8322	broad.mit.edu	37	chr11	86665896	86665896	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgtgaaagttgtcagctGcagctcggcgtccgtctgca	14	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:86665896G>A	uc001pce.2	-	1	538	c.232C>T	c.(232-234)CAG>TAG	p.Q78*	uc001pcf.2_5'Flank	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	frizzled 4 precursor	78	FZ.|Extracellular (Potential).				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTTGTCAGCTGCAGCTCGGCG	0.662													A	86665896	G	A	86665896	4	1	27	1	0	0	0	0	0	1	0	0	6132	1328	46	2	1389	2	FZD4	11	86665896	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	559507	86665896	48340620	5336	29287											
GRM5	2915	broad.mit.edu	37	chr11	88242507	88242507	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctcccgcctgcgccagcGccagcgcccaggccacggct	13	21	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:88242507G>A	uc001pcq.2	-	9	3092	c.2892C>T	c.(2890-2892)GGC>GGT	p.G964G	GRM5_uc009yvm.2_Silent_p.G932G	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	964	Cytoplasmic (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTGCGCCAGCGCCAGCGCCCA	0.726													A	88242507	G	A	88242507	2	1	27	1	0	0	0	0	0	0	0	1	6800	1074	38	1		1	GRM5	11	88242507	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1576611	88242507	46764009	5337	29288											
GRM5	2915	broad.mit.edu	37	chr11	88780887	88780887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacacttcctctcatgaaCtttgtccacagtaggctggt	7	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:88780887C>T	uc001pcq.2	-	1	354	c.154G>A	c.(154-156)GTT>ATT	p.V52I	GRM5_uc009yvm.2_Missense_Mutation_p.V52I|GRM5_uc009yvn.1_Missense_Mutation_p.V52I	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	52	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTCTCATGAACTTTGTCCACA	0.527													T	88780887	C	T	88780887	3	4	27	1	0	0	0	0	1	0	0	0	6800	565	20	4	3520	4	GRM5	11	88780887	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	538380	88780887	46225629	5338	29289											
FAT3	120114	broad.mit.edu	37	chr11	92087436	92087436	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgacttttattcaattaatAgacagggaccatattttgac	6	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:92087436A>G	uc001pdj.3	+	1	2175	c.2158A>G	c.(2158-2160)AGA>GGA	p.R720G		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	720	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTCAATTAATAGACAGGGACC	0.398										TCGA Ovarian(4;0.039)			G	92087436	A	G	92087436	3	3	27	1	0	0	0	0	1	0	0	0	5691	412	15	3	2160	3	FAT3	11	92087436	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3306549	92087436	42919080	5339	29290											
FAT3	120114	broad.mit.edu	37	chr11	92087574	92087574	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagtgctatttacaataTcagatggaaatacggatagt	9	4	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:92087574T>A	uc001pdj.3	+	1	2313	c.2296T>A	c.(2296-2298)TCA>ACA	p.S766T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	766	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTTACAATATCAGATGGAAA	0.423										TCGA Ovarian(4;0.039)			A	92087574	T	A	92087574	3	1	27	1	0	0	0	0	1	0	0	0	5691	1435	50	5	2298	5	FAT3	11	92087574	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	138	92087574	42918942	5340	29291											
FAT3	120114	broad.mit.edu	37	chr11	92531257	92531257	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggaacatcagtcattctaaTctctgccatcagtcaatcta	5	11	7	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:92531257T>A	uc001pdj.3	+	9	5095	c.5078T>A	c.(5077-5079)ATC>AAC	p.I1693N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1693	Cadherin 15.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTCATTCTAATCTCTGCCATC	0.393										TCGA Ovarian(4;0.039)			A	92531257	T	A	92531257	3	1	27	1	0	0	0	0	1	0	0	0	5691	1435	50	5	5112	5	FAT3	11	92531257	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	443683	92531257	42475259	5341	29292											
FAT3	120114	broad.mit.edu	37	chr11	92534472	92534472	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagaacaggaaacaggcactAttaagcttgacaaacgcctt	8	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:92534472A>T	uc001pdj.3	+	9	8310	c.8293A>T	c.(8293-8295)ATT>TTT	p.I2765F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2765	Extracellular (Potential).|Cadherin 25.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACAGGCACTATTAAGCTTGA	0.453										TCGA Ovarian(4;0.039)			T	92534472	A	T	92534472	3	4	27	1	0	0	0	0	1	0	0	0	5691	449	16	5	8327	5	FAT3	11	92534472	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3215	92534472	42472044	5342	29293											
FAT3	120114	broad.mit.edu	37	chr11	92568120	92568120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccaaagatgggggcacccCagctctcagcgctgtggcca	13	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:92568120C>A	uc001pdj.3	+	14	9973	c.9956C>A	c.(9955-9957)CCA>CAA	p.P3319Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3319	Cadherin 30.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGGGCACCCCAGCTCTCAGC	0.478										TCGA Ovarian(4;0.039)			A	92568120	C	A	92568120	3	1	27	1	0	0	0	0	1	0	0	0	5691	594	21	5	10010	5	FAT3	11	92568120	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	33648	92568120	42438396	5343	29294											
FAT3	120114	broad.mit.edu	37	chr11	92616316	92616316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggcccccgcaggtccccGtgcgccccatggcctacaca	12	19	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:92616316G>A	uc001pdj.3	+	23	12711	c.12694G>A	c.(12694-12696)GTG>ATG	p.V4232M	FAT3_uc001pdi.3_Missense_Mutation_p.V672M	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4232	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCAGGTCCCCGTGCGCCCCAT	0.652										TCGA Ovarian(4;0.039)			A	92616316	G	A	92616316	3	1	27	1	0	0	0	0	1	0	0	0	5691	1145	40	1	12784	1	FAT3	11	92616316	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	48196	92616316	42390200	5344	29295											
MED17	9440	broad.mit.edu	37	chr11	93545200	93545200	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttataaaatggagctgctTatgtctgcacttagcccttg	9	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:93545200T>C	uc001pem.3	+	12	2201	c.1926T>C	c.(1924-1926)CTT>CTC	p.L642L		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	642					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGGAGCTGCTTATGTCTGCAC	0.348													C	93545200	T	C	93545200	2	2	27	1	0	0	0	0	0	0	0	1	9435	1741	61	3		3	MED17	11	93545200	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	928884	93545200	41461316	5345	29296											
FOLR4	390243	broad.mit.edu	37	chr11	94038882	94038882	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggacgagctgctcaacatctGcatgaatgccaaacaccaca	8	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:94038882G>C	uc010rud.1	+	1	80	c.80G>C	c.(79-81)TGC>TCC	p.C27S		NM_001080486	NP_001073955	A6ND01	FOLR4_HUMAN	folate receptor 4 (delta) homolog	27						extracellular region	folic acid binding|receptor activity			ovary(1)	1						CTCAACATCTGCATGAATGCC	0.587													C	94038882	G	C	94038882	3	2	27	1	0	0	0	0	1	0	0	0	5984	1319	46	5	82	5	FOLR4	11	94038882	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	493682	94038882	40967634	5346	29297											
GPR83	10888	broad.mit.edu	37	chr11	94134373	94134373	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtggggctcggtggctcgcAccaaggggaggagacagagc	19	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:94134373A>G	uc001pet.2	-	1	213	c.41T>C	c.(40-42)GTG>GCG	p.V14A		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83 precursor	14						integral to membrane|plasma membrane	neuropeptide Y receptor activity			central_nervous_system(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGTGGCTCGCACCAAGGGGAG	0.692													G	94134373	A	G	94134373	3	3	27	1	0	0	0	0	1	0	0	0	6713	159	6	3	1246	3	GPR83	11	94134373	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	95491	94134373	40872143	5347	29298											
MRE11A	4361	broad.mit.edu	37	chr11	94200987	94200987	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataggacttactcgcagtcGtacaagaggcttctctggct	10	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:94200987G>A	uc001peu.2	-	10	1279	c.1090C>T	c.(1090-1092)CGA>TGA	p.R364*	MRE11A_uc001pev.2_Nonsense_Mutation_p.R364*|MRE11A_uc009ywj.2_Nonsense_Mutation_p.R367*|MIR548L_hsa-mir-548l|MI0006361_5'Flank	NM_005591	NP_005582	P49959	MRE11_HUMAN	meiotic recombination 11 homolog A isoform 1	364					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(4)|lung(1)	5		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				ACTCGCAGTCGTACAAGAGGC	0.333								Homologous_recombination	Ataxia-Telangiectasia-Like_Disorder				A	94200987	G	A	94200987	4	1	27	1	0	0	0	0	0	1	0	0	9759	1153	40	1	1080	1	MRE11A	11	94200987	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	66614	94200987	40805529	5348	29299											
AMOTL1	154810	broad.mit.edu	37	chr11	94597954	94597956	+	In_Frame_Del	DEL	GGA	GGA	-													agctacggagagagctcgctGgaggcccacatctggcaaga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:94597953_94597955TGGA>T	uc001pfb.3	+	9	2359_2361	c.2189_2191TGGA>T	c.(2188-2193)ctggag>cTag	p.E731del	AMOTL1_uc001pfc.3_In_Frame_Del_p.E681del	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	731						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GAGAGCTCGCTGGAGGCCCACAT	0.542													-	94597956	GGA	-	94597954	7	5	27	1	0	1	0	1	0	0	0	0	583	1335	47	0	2228	0	AMOTL1	11	94597954	In_Frame_Del	DEL	GGA	TCGA-BR-6452-01A-12D-1800-08	396967	94597954	40408562	5349	29300											
MTMR2	8898	broad.mit.edu	37	chr11	95578206	95578206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagtatccatccaacatgaGcatggcaagggaagtgagct	11	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:95578206G>A	uc001pfu.2	-	11	1550	c.1297C>T	c.(1297-1299)CTC>TTC	p.L433F	MTMR2_uc001pfv.2_Missense_Mutation_p.L361F|MTMR2_uc001pfs.2_Missense_Mutation_p.L361F|MTMR2_uc001pft.2_Missense_Mutation_p.L361F|MTMR2_uc010ruj.1_Missense_Mutation_p.L416F	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	433	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCCAACATGAGCATGGCAAGG	0.463													A	95578206	G	A	95578206	3	1	27	1	0	0	0	0	1	0	0	0	9944	971	34	2	654	2	MTMR2	11	95578206	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	980252	95578206	39428310	5350	29301											
MTMR2	8898	broad.mit.edu	37	chr11	95578262	95578262	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccatcactgcaatgcactAccacagacgtcttccctgac	5	16	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:95578262A>G	uc001pfu.2	-	11	1494	c.1241T>C	c.(1240-1242)GTA>GCA	p.V414A	MTMR2_uc001pfv.2_Missense_Mutation_p.V342A|MTMR2_uc001pfs.2_Missense_Mutation_p.V342A|MTMR2_uc001pft.2_Missense_Mutation_p.V342A|MTMR2_uc010ruj.1_Missense_Mutation_p.V397A	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	414	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCAATGCACTACCACAGACGT	0.448													G	95578262	A	G	95578262	3	3	27	1	0	0	0	0	1	0	0	0	9944	391	14	3	710	3	MTMR2	11	95578262	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	56	95578262	39428254	5351	29302											
MAML2	84441	broad.mit.edu	37	chr11	95724805	95724805	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgattgctgggagttcatgTaaccacttccagtgtttgga	12	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:95724805T>C	uc001pfw.1	-	3	3507	c.2222A>G	c.(2221-2223)TAC>TGC	p.Y741C		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	741					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GGAGTTCATGTAACCACTTCC	0.483			T	MECT1|CRTC3	salivary gland mucoepidermoid								C	95724805	T	C	95724805	3	2	27	1	0	0	0	0	1	0	0	0	9206	1638	57	3	1260	3	MAML2	11	95724805	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	146543	95724805	39281711	5352	29303											
CNTN5	53942	broad.mit.edu	37	chr11	99931951	99931951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccctatcgtagccccgttCcaacaatcacatggatgaag	7	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:99931951C>T	uc001pga.2	+	10	1327	c.988C>T	c.(988-990)CCA>TCA	p.P330S	CNTN5_uc009ywv.1_Missense_Mutation_p.P330S|CNTN5_uc001pfz.2_Missense_Mutation_p.P330S|CNTN5_uc001pgb.2_Missense_Mutation_p.P256S	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	330	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TAGCCCCGTTCCAACAATCAC	0.418													T	99931951	C	T	99931951	3	4	27	1	0	0	0	0	1	0	0	0	3644	855	30	4	1018	4	CNTN5	11	99931951	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4207146	99931951	35074565	5353	29304											
TRPC6	7225	broad.mit.edu	37	chr11	101324444	101324444	+	Frame_Shift_Del	DEL	T	T	-													tacatatcttttaatgagccTtttcattattttctagaaaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:101324443_101324443CT>C	uc001pgk.4	-	11	3007	c.2582_2582AG>G	c.(2581-2583)aggfs	p.R861fs	TRPC6_uc009ywy.3_Frame_Shift_Del_p.R745fs|TRPC6_uc009ywz.1_Frame_Shift_Del_p.R806fs	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	861					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTTAATGAGCCTTTTCATTAT	0.403													-	101324444	T	-	101324444	7	5	27	1	0	1	0	1	0	0	0	0	16580	1608	56	0	222	0	TRPC6	11	101324444	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	1392493	101324444	33682072	5354	29305											
TRPC6	7225	broad.mit.edu	37	chr11	101374854	101374854	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaatgacaggtaagccggActtgccaggcctttataggc	12	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:101374854A>G	uc001pgk.3	-	2	1271	c.846T>C	c.(844-846)AGT>AGC	p.S282S	TRPC6_uc009ywy.2_Silent_p.S282S|TRPC6_uc009ywz.1_Silent_p.S282S	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	282	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GGTAAGCCGGACTTGCCAGGC	0.438													G	101374854	A	G	101374854	2	3	27	1	0	0	0	0	0	0	0	1	16580	272	10	3		3	TRPC6	11	101374854	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	50410	101374854	33631662	5355	29306											
TRPC6	7225	broad.mit.edu	37	chr11	101375465	101375465	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtcctcgattagctaAccttctccccttctcacgga	7	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:101375465A>G	uc001pgk.3	-	2	660	c.235T>C	c.(235-237)TTA>CTA	p.L79L	TRPC6_uc009ywy.2_Silent_p.L79L|TRPC6_uc009ywz.1_Silent_p.L79L	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	79	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CGATTAGCTAACCTTCTCCCC	0.473													G	101375465	A	G	101375465	2	3	27	1	0	0	0	0	0	0	0	1	16580	40	2	3		3	TRPC6	11	101375465	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	611	101375465	33631051	5356	29307											
KIAA1377	57562	broad.mit.edu	37	chr11	101818760	101818760	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggtctttattatctctttAgtttcccgaaaaccagttcc	5	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:101818760A>G	uc001pgm.2	+	4	665	c.395_splice	c.e4-2	p.V132_splice	KIAA1377_uc001pgn.2_Splice_Site_p.V88_splice|KIAA1377_uc009yxa.1_Splice_Site	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562								protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TTATCTCTTTAGTTTCCCGAA	0.323													G	101818760	A	G	101818760	5	3	27	1	0	0	0	0	0	0	1	0	8227	434	15	3	407	3	KIAA1377	11	101818760	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	443295	101818760	33187756	5357	29308											
MMP20	9313	broad.mit.edu	37	chr11	102482514	102482514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaagatatcataatatcCgcttctcctgagtttattct	4	9	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:102482514C>T	uc001phc.2	-	3	508	c.495G>A	c.(493-495)GCG>GCA	p.A165A		NM_004771	NP_004762	O60882	MMP20_HUMAN	matrix metalloproteinase 20 preproprotein	165					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			urinary_tract(1)|skin(1)	2	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TCATAATATCCGCTTCTCCTG	0.448													T	102482514	C	T	102482514	2	4	27	1	0	0	0	0	0	0	0	1	9659	639	23	1		1	MMP20	11	102482514	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	663754	102482514	32524002	5358	29309											
MMP20	9313	broad.mit.edu	37	chr11	102487565	102487565	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatgtcaaagtatttttttTccatttgggttcaccaggga	9	6	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:102487565T>C	uc001phc.2	-	2	365	c.352A>G	c.(352-354)AAA>GAA	p.K118E		NM_004771	NP_004762	O60882	MMP20_HUMAN	matrix metalloproteinase 20 preproprotein	118					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			urinary_tract(1)|skin(1)	2	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GTATTTTTTTTCCATTTGGGT	0.408													C	102487565	T	C	102487565	3	2	27	1	0	0	0	0	1	0	0	0	9659	1792	62	3	1135	3	MMP20	11	102487565	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	5051	102487565	32518951	5359	29310											
MMP27	64066	broad.mit.edu	37	chr11	102567160	102567160	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatagcgtcaaaagtcaagtCagggtcacaggcatggggta	14	7	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:102567160C>T	uc001phd.1	-	6	867	c.844G>A	c.(844-846)GAC>AAC	p.D282N		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	matrix metalloproteinase 27 precursor	282					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		AAAGTCAAGTCAGGGTCACAG	0.413													T	102567160	C	T	102567160	3	4	27	1	0	0	0	0	1	0	0	0	9664	826	29	4	717	4	MMP27	11	102567160	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	79595	102567160	32439356	5360	29311											
MMP3	4314	broad.mit.edu	37	chr11	102713491	102713491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactccacacctgggcttgcGcatcacctccagagtgtcgg	10	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:102713491G>A	uc001phj.1	-	2	327	c.262C>T	c.(262-264)CGC>TGC	p.R88C		NM_002422	NP_002413	P08254	MMP3_HUMAN	matrix metalloproteinase 3 preproprotein	88					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			lung(1)|kidney(1)	2		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CTGGGCTTGCGCATCACCTCC	0.502													A	102713491	G	A	102713491	3	1	27	1	0	0	0	0	1	0	0	0	9666	1087	38	1	1207	1	MMP3	11	102713491	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	146331	102713491	32293025	5361	29312											
DYNC2H1	79659	broad.mit.edu	37	chr11	102980475	102980475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagggtgcagcgatccgacGcaggaatctccttttccaac	10	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:102980475G>A	uc001pho.2	+	1	316	c.172G>A	c.(172-174)GCA>ACA	p.A58T	DYNC2H1_uc001phn.1_Missense_Mutation_p.A58T|DYNC2H1_uc009yxe.1_Missense_Mutation_p.A58T	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	58	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GCGATCCGACGCAGGAATCTC	0.562													A	102980475	G	A	102980475	3	1	27	1	0	0	0	0	1	0	0	0	4846	1087	38	1	174	1	DYNC2H1	11	102980475	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	266984	102980475	32026041	5362	29313											
DYNC2H1	79659	broad.mit.edu	37	chr11	102988470	102988470	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtatttcaatttgtgaaCagtgggtgatagtctgtaat	11	4	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:102988470C>T	uc001pho.2	+	6	1021	c.877C>T	c.(877-879)CAG>TAG	p.Q293*	DYNC2H1_uc001phn.1_Nonsense_Mutation_p.Q293*|DYNC2H1_uc009yxe.1_Nonsense_Mutation_p.Q293*	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	293	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AATTTGTGAACAGTGGGTGAT	0.383													T	102988470	C	T	102988470	4	4	27	1	0	0	0	0	0	1	0	0	4846	479	17	4	899	4	DYNC2H1	11	102988470	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	7995	102988470	32018046	5363	29314											
DYNC2H1	79659	broad.mit.edu	37	chr11	103004387	103004387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgctgctgaacggcttgCcactgaaaatagaaaactga	9	8	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:103004387C>T	uc001pho.2	+	14	2201	c.2057C>T	c.(2056-2058)GCC>GTC	p.A686V	DYNC2H1_uc001phn.1_Missense_Mutation_p.A686V|DYNC2H1_uc009yxe.1_Missense_Mutation_p.A686V	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	686	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GAACGGCTTGCCACTGAAAAT	0.318													T	103004387	C	T	103004387	3	4	27	1	0	0	0	0	1	0	0	0	4846	739	26	2	2111	2	DYNC2H1	11	103004387	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	15917	103004387	32002129	5364	29315											
DYNC2H1	79659	broad.mit.edu	37	chr11	103058132	103058132	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgctacagttcactgtagTgcacaaaccacttctcgaca	6	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:103058132T>C	uc001pho.2	+	43	7101	c.6957T>C	c.(6955-6957)AGT>AGC	p.S2319S	DYNC2H1_uc001phn.1_Silent_p.S2319S|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2319	AAA 3 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTCACTGTAGTGCACAAACCA	0.423													C	103058132	T	C	103058132	2	2	27	1	0	0	0	0	0	0	0	1	4846	1693	59	3		3	DYNC2H1	11	103058132	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	53745	103058132	31948384	5365	29316											
DYNC2H1	79659	broad.mit.edu	37	chr11	103070066	103070066	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctgagtttccctggaggttCacttctattagcaggacgca	11	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:103070066C>A	uc001pho.2	+	49	8093	c.7949C>A	c.(7948-7950)TCA>TAA	p.S2650*	DYNC2H1_uc001phn.1_Nonsense_Mutation_p.S2650*|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2650	AAA 4 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCTGGAGGTTCACTTCTATTA	0.438													A	103070066	C	A	103070066	4	1	27	1	0	0	0	0	0	1	0	0	4846	838	29	5	8143	5	DYNC2H1	11	103070066	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	11934	103070066	31936450	5366	29317											
DYNC2H1	79659	broad.mit.edu	37	chr11	103102032	103102032	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaaggaaactagaggagCttcttaattctgttggtcaa	10	5	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:103102032C>G	uc001pho.2	+	60	9541	c.9397C>G	c.(9397-9399)CTT>GTT	p.L3133V	DYNC2H1_uc001phn.1_Missense_Mutation_p.L3133V|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3133	Potential.|Stalk (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACTAGAGGAGCTTCTTAATTC	0.289													G	103102032	C	G	103102032	3	3	27	1	0	0	0	0	1	0	0	0	4846	797	28	5	9635	5	DYNC2H1	11	103102032	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	31966	103102032	31904484	5367	29318											
DDI1	414301	broad.mit.edu	37	chr11	103907793	103907793	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagaaggacaatgtgggAcctcgggctccagggcgtgc	16	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:103907793A>T	uc001phr.2	+	1	486	c.243A>T	c.(241-243)GGA>GGT	p.G81G	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	81	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		ACAATGTGGGACCTCGGGCTC	0.612													T	103907793	A	T	103907793	2	4	27	1	0	0	0	0	0	0	0	1	4328	262	10	5		5	DDI1	11	103907793	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	805761	103907793	31098723	5368	29319											
DDI1	414301	broad.mit.edu	37	chr11	103908242	103908242	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaacatgaatatagcgaTagaagaggcccccgagagtt	11	7	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:103908242T>C	uc001phr.2	+	1	935	c.692T>C	c.(691-693)ATA>ACA	p.I231T	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	231					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AATATAGCGATAGAAGAGGCC	0.488													C	103908242	T	C	103908242	3	2	27	1	0	0	0	0	1	0	0	0	4328	1406	49	3	694	3	DDI1	11	103908242	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	449	103908242	31098274	5369	29320											
CASP4	837	broad.mit.edu	37	chr11	104821692	104821692	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacatctacactatagtccAgaccctcaagtagctccttc	4	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:104821692A>G	uc001pid.1	-	4	579	c.506T>C	c.(505-507)CTG>CCG	p.L169P	CASP4_uc001pib.1_Missense_Mutation_p.L113P|CASP4_uc009yxg.1_Missense_Mutation_p.L78P|CASP4_uc010rux.1_Missense_Mutation_p.L169P	NM_001225	NP_001216	P49662	CASP4_HUMAN	caspase 4 isoform alpha precursor	169					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			lung(2)|ovary(1)|skin(1)	4		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		ACTATAGTCCAGACCCTCAAG	0.463													G	104821692	A	G	104821692	3	3	27	1	0	0	0	0	1	0	0	0	2673	188	7	3	647	3	CASP4	11	104821692	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	913450	104821692	30184824	5370	29321											
CASP5	838	broad.mit.edu	37	chr11	104869751	104869751	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgacccagagttccccatgTttttctgtagagacatcaac	7	12	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:104869751T>G	uc010rva.1	-	7	989	c.957A>C	c.(955-957)AAA>AAC	p.K319N	CASP5_uc010ruz.1_Missense_Mutation_p.K332N|CASP5_uc010rvb.1_Missense_Mutation_p.K261N|CASP5_uc010rvc.1_Missense_Mutation_p.K177N|CASP5_uc009yxh.2_Missense_Mutation_p.K101N|CASP5_uc010rvd.1_Missense_Mutation_p.K101N	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor	319					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GTTCCCCATGTTTTTCTGTAG	0.294													G	104869751	T	G	104869751	3	3	27	1	0	0	0	0	1	0	0	0	2674	1722	60	5	359	5	CASP5	11	104869751	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	48059	104869751	30136765	5371	29322											
CASP1	834	broad.mit.edu	37	chr11	104901070	104901070	+	Frame_Shift_Del	DEL	T	T	-													aacttaccgaagcagtgagaTtttttttcacatctacgctg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:104901069_104901069AT>A	uc001pim.4	-	4	615	c.615_615AT>T	c.(613-615)aatfs	p.N205fs	CASP1_uc001pig.3_Frame_Shift_Del_p.N112fs|CASP1_uc021qpq.1_Frame_Shift_Del_p.N184fs|CASP1_uc021qpr.1_Frame_Shift_Del_p.N112fs|CASP1_uc021qps.1_Intron|CASP1_uc021qpp.1_Frame_Shift_Del_p.N205fs|CASP1_uc021qpt.1_Frame_Shift_Del_p.N112fs|CASP1_uc010rve.2_Frame_Shift_Del_p.N205fs|CASP1_uc010rvf.2_Frame_Shift_Del_p.N112fs|CASP1_uc010rvg.2_Frame_Shift_Del_p.N184fs|CASP1_uc010rvh.2_Frame_Shift_Del_p.N112fs|CASP1_uc010rvi.2_Intron|CASP1_uc009yxi.3_Frame_Shift_Del_p.N184fs|CASP1_uc021qpu.1_Frame_Shift_Del_p.N112fs|CASP1_uc021qpv.1_Frame_Shift_Del_p.N184fs|CASP1_uc021qpw.1_Frame_Shift_Del_p.N112fs|CASP1_uc021qpx.1_Intron|CASP1_uc010rvj.2_Frame_Shift_Del_p.N205fs|CASP1_uc009yxj.3_Frame_Shift_Del_p.N50fs|CASP1_uc010rvk.2_Frame_Shift_Del_p.N166fs	NM_033292	NP_150634	P29466	CASP1_HUMAN	Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	205					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	p.N205I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	AAGCAGTGAGATTTTTTTTCA	0.378													-	104901070	T	-	104901070	7	5	27	1	0	1	0	1	0	0	0	0	2668	1493	52	0	620	0	CASP1	11	104901070	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	31319	104901070	30105446	5372	29323											
KBTBD3	143879	broad.mit.edu	37	chr11	105924271	105924271	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagttgataccaagaagaaaTcatttttcactggacagtag	8	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:105924271T>A	uc001pja.2	-	4	1785	c.1145A>T	c.(1144-1146)GAT>GTT	p.D382V	KBTBD3_uc001pjb.2_Missense_Mutation_p.D382V|KBTBD3_uc009yxm.2_Missense_Mutation_p.D303V	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	BTB and kelch domain containing 3	378	Kelch 2.									ovary(1)|central_nervous_system(1)	2		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CAAGAAGAAATCATTTTTCAC	0.413													A	105924271	T	A	105924271	3	1	27	1	0	0	0	0	1	0	0	0	7994	1435	50	5	697	5	KBTBD3	11	105924271	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1023201	105924271	29082245	5373	29324											
SLC35F2	54733	broad.mit.edu	37	chr11	107682454	107682454	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcacataattagcttccacaTctgctagtcccagcaggatg	7	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:107682454T>A	uc001pjq.2	-	3	774	c.353A>T	c.(352-354)GAT>GTT	p.D118V	SLC35F2_uc010rvu.1_5'UTR|SLC35F2_uc001pjs.2_Missense_Mutation_p.D118V	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	118	Helical; (Potential).				transport	integral to membrane				central_nervous_system(1)	1		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		AGCTTCCACATCTGCTAGTCC	0.423													A	107682454	T	A	107682454	3	1	27	1	0	0	0	0	1	0	0	0	14589	1435	50	5	795	5	SLC35F2	11	107682454	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1758183	107682454	27324062	5374	29325											
CUL5	8065	broad.mit.edu	37	chr11	107917050	107917050	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcccagcaaaaattcatcAggctttaaaagaagatattc	7	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:107917050A>G	uc001pjv.2	+	3	855	c.188A>G	c.(187-189)CAG>CGG	p.Q63R	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	63					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AAAATTCATCAGGCTTTAAAA	0.328													G	107917050	A	G	107917050	3	3	27	1	0	0	0	0	1	0	0	0	4059	188	7	3	198	3	CUL5	11	107917050	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	234596	107917050	27089466	5375	29326											
ATM	472	broad.mit.edu	37	chr11	108155161	108155161	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agagagactgctaccaaggtCtatgatatgcttaaaagtga	10	6	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:108155161C>A	uc001pkb.1	+	26	4339	c.3954C>A	c.(3952-3954)GTC>GTA	p.V1318V	ATM_uc009yxr.1_Silent_p.V1318V|ATM_uc001pkd.3_5'Flank|ATM_uc001pke.1_5'Flank	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1318					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.V1292_Q1331del(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTACCAAGGTCTATGATATGC	0.363			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			A	108155161	C	A	108155161	2	1	27	1	0	0	0	0	0	0	0	1	1109	900	32	5		5	ATM	11	108155161	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	238111	108155161	26851355	5376	29327											
ATM	472	broad.mit.edu	37	chr11	108164164	108164165	+	Frame_Shift_Ins	INS	-	-	A													gatttgcgtattactcagcaINSaaaaatcaaatacagtagag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:108164163_108164164C>CA	uc001pkb.1	+	30	5120_5121	c.4735_4736C>CA	c.(4735-4737)caafs	p.Q1579fs	ATM_uc009yxr.1_Frame_Shift_Ins_p.Q1579fs|ATM_uc001pke.2_Frame_Shift_Ins_p.Q231fs|ATM_uc001pkf.3_Intron	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1579					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TATTACTCAGCAAAAAATCAAA	0.302			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			A	108164165	-	A	108164164	7	5	27	1	0	1	1	0	0	0	0	0	1109	130	5	0	4854	0	ATM	11	108164164	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	9003	108164164	26842352	5377	29328											
ATM	472	broad.mit.edu	37	chr11	108199851	108199851	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggttttcagatactcaatAccaaagaattgaaaactaca	5	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:108199851A>G	uc001pkb.1	+	49	7578	c.7193A>G	c.(7192-7194)TAC>TGC	p.Y2398C	ATM_uc009yxr.1_Missense_Mutation_p.Y2398C|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.Y1050C|ATM_uc001pkg.1_Missense_Mutation_p.Y755C	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2398	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GATACTCAATACCAAAGAATT	0.373			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			G	108199851	A	G	108199851	3	3	27	1	0	0	0	0	1	0	0	0	1109	391	14	3	7383	3	ATM	11	108199851	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	35687	108199851	26806665	5378	29329											
EXPH5	23086	broad.mit.edu	37	chr11	108381885	108381885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatggaatggctctaccaCtccctgtacactcccaagaa	6	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:108381885C>T	uc001pkk.2	-	6	4460	c.4349G>A	c.(4348-4350)AGT>AAT	p.S1450N	EXPH5_uc010rvy.1_Missense_Mutation_p.S1262N|EXPH5_uc010rvz.1_Missense_Mutation_p.S1294N|EXPH5_uc010rwa.1_Missense_Mutation_p.S1374N	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	1450					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GGCTCTACCACTCCCTGTACA	0.453													T	108381885	C	T	108381885	3	4	27	1	0	0	0	0	1	0	0	0	5322	565	20	4	1624	4	EXPH5	11	108381885	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	182034	108381885	26624631	5379	29330											
DDX10	1662	broad.mit.edu	37	chr11	108547842	108547842	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttatatcgtctgcaatggActtcaacagatgggctgggg	12	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:108547842A>G	uc001pkm.2	+	4	474	c.409A>G	c.(409-411)ACT>GCT	p.T137A	DDX10_uc001pkl.1_Missense_Mutation_p.T137A	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	137	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|lung(1)|prostate(1)	4		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TCTGCAATGGACTTCAACAGA	0.433			T	NUP98	AML*								G	108547842	A	G	108547842	3	3	27	1	0	0	0	0	1	0	0	0	4342	275	10	3	423	3	DDX10	11	108547842	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	165957	108547842	26458674	5380	29331											
ZC3H12C	85463	broad.mit.edu	37	chr11	110035934	110035934	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttccgcacctggctctGcacctgccgcactccgctgt	8	20	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:110035934G>A	uc009yxw.2	+	6	2175	c.2124G>A	c.(2122-2124)CTG>CTA	p.L708L	ZC3H12C_uc010rwc.1_Silent_p.L709L|ZC3H12C_uc010rwd.1_Silent_p.L709L|ZC3H12C_uc001pkr.3_Silent_p.L677L	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	708							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		ACCTGGCTCTGCACCTGCCGC	0.587													A	110035934	G	A	110035934	2	1	27	1	0	0	0	0	0	0	0	1	17560	1306	46	2		2	ZC3H12C	11	110035934	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1488092	110035934	24970582	5381	29332											
SIK2	23235	broad.mit.edu	37	chr11	111593434	111593434	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaacacctgtcagctttatTgcaaagaaccaccgcggagc	9	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:111593434T>C	uc001plt.2	+	14	2219	c.2101T>C	c.(2101-2103)TGC>CGC	p.C701R		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	701					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						TCAGCTTTATTGCAAAGAACC	0.507													C	111593434	T	C	111593434	3	2	27	1	0	0	0	0	1	0	0	0	14318	1812	63	3	2155	3	SIK2	11	111593434	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1557500	111593434	23413082	5382	29333											
FDXACB1	91893	broad.mit.edu	37	chr11	111745746	111745746	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggccttgtcacaggtctggTaggtcaatctatagcagaga	13	8	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:111745746T>C	uc001pmc.3	-	5	2072	c.1775A>G	c.(1774-1776)TAC>TGC	p.Y592C	ALG9_uc010rwo.1_Intron|FDXACB1_uc009yyi.2_Missense_Mutation_p.Y443C	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain	592	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0						ACAGGTCTGGTAGGTCAATCT	0.473													C	111745746	T	C	111745746	3	2	27	1	0	0	0	0	1	0	0	0	5806	1638	57	3	103	3	FDXACB1	11	111745746	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	152312	111745746	23260770	5383	29334											
DIXDC1	85458	broad.mit.edu	37	chr11	111888543	111888543	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattttaaagcagctattgaTcgggaaggaaatcaccggta	11	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:111888543T>C	uc001pml.2	+	20	2202	c.1905T>C	c.(1903-1905)GAT>GAC	p.D635D	DIXDC1_uc001pmm.2_Silent_p.D424D|DIXDC1_uc001pmn.2_Silent_p.D341D|DIXDC1_uc010rwq.1_Silent_p.D300D	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	635	DIX.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			ovary(1)	1		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CAGCTATTGATCGGGAAGGAA	0.428													C	111888543	T	C	111888543	2	2	27	1	0	0	0	0	0	0	0	1	4541	1432	50	3		3	DIXDC1	11	111888543	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	142797	111888543	23117973	5384	29335											
BCO2	83875	broad.mit.edu	37	chr11	112071468	112071468	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accccagtgtaatacgcggtTtcatgtggtggaaaaacgca	11	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:112071468T>C	uc001pnf.2	+	7	1115	c.998T>C	c.(997-999)TTT>TCT	p.F333S	BCO2_uc001pne.1_Missense_Mutation_p.F160S|BCO2_uc001png.2_Missense_Mutation_p.F260S|BCO2_uc001pnh.2_Missense_Mutation_p.F299S|BCO2_uc010rwt.1_Missense_Mutation_p.F228S|BCO2_uc009yyn.2_Missense_Mutation_p.F299S|BCO2_uc001pni.2_Missense_Mutation_p.F299S	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	333					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						AATACGCGGTTTCATGTGGTG	0.393													C	112071468	T	C	112071468	3	2	27	1	0	0	0	0	1	0	0	0	1385	1841	64	3	1024	3	BCO2	11	112071468	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	182925	112071468	22935048	5385	29336											
BCO2	83875	broad.mit.edu	37	chr11	112072775	112072775	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagatactacagcaaaccTtttgttacatttcatcaaat	6	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:112072775T>G	uc001pnf.2	+	8	1173	c.1056T>G	c.(1054-1056)CCT>CCG	p.P352P	BCO2_uc001pne.1_Silent_p.P179P|BCO2_uc001png.2_Silent_p.P279P|BCO2_uc001pnh.2_Silent_p.P318P|BCO2_uc010rwt.1_Silent_p.P247P|BCO2_uc009yyn.2_Silent_p.P318P|BCO2_uc001pni.2_Silent_p.P318P	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	352					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						ACAGCAAACCTTTTGTTACAT	0.363													G	112072775	T	G	112072775	2	3	27	1	0	0	0	0	0	0	0	1	1385	1596	56	5		5	BCO2	11	112072775	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1307	112072775	22933741	5386	29337											
NCAM1	4684	broad.mit.edu	37	chr11	113085138	113085138	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accagactgccatggaattaGaggagcaggtcactcttacc	10	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:113085138G>A	uc009yyq.1	+	8	1304	c.610G>A	c.(610-612)GAG>AAG	p.E204K	NCAM1_uc001pno.2_Missense_Mutation_p.E204K	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	322	Ig-like C2-type 4.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CATGGAATTAGAGGAGCAGGT	0.453													A	113085138	G	A	113085138	3	1	27	1	0	0	0	0	1	0	0	0	10202	943	33	4	995	4	NCAM1	11	113085138	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1012363	113085138	21921378	5387	29338											
NCAM1	4684	broad.mit.edu	37	chr11	113103011	113103011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggtttcgggatggccagCtgctgccaagctccaattac	11	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:113103011C>T	uc009yyq.1	+	12	1778	c.1084C>T	c.(1084-1086)CTG>TTG	p.L362L		NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	454	Ig-like C2-type 5.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GGATGGCCAGCTGCTGCCAAG	0.547													T	113103011	C	T	113103011	2	4	27	1	0	0	0	0	0	0	0	1	10202	796	28	2		2	NCAM1	11	113103011	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	17873	113103011	21903505	5388	29339											
NCAM1	4684	broad.mit.edu	37	chr11	113105824	113105824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacgccgtaaggctggcggCgctcaatggcaaagggctgg	17	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:113105824C>T	uc009yyq.1	+	15	2181	c.1487C>T	c.(1486-1488)GCG>GTG	p.A496V		NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	588	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGGCTGGCGGCGCTCAATGGC	0.587													T	113105824	C	T	113105824	3	4	27	1	0	0	0	0	1	0	0	0	10202	768	27	1	1818	1	NCAM1	11	113105824	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2813	113105824	21900692	5389	29340											
TTC12	54970	broad.mit.edu	37	chr11	113210045	113210045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcttcaggaaaaagcagaCcttcaagaaaaggaagccca	9	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:113210045C>T	uc001pnu.2	+	10	780	c.675C>T	c.(673-675)GAC>GAT	p.D225D	TTC12_uc001pnv.2_Silent_p.D231D|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Silent_p.D75D	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	225							binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AAAAAGCAGACCTTCAAGAAA	0.448													T	113210045	C	T	113210045	2	4	27	1	0	0	0	0	0	0	0	1	16676	506	18	4		4	TTC12	11	113210045	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	104221	113210045	21796471	5390	29341											
DRD2	1813	broad.mit.edu	37	chr11	113283413	113283413	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagatcttggcaatcttggGgtggtctttggcatgcccat	12	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:113283413G>T	uc001pnz.2	-	6	1324	c.1003C>A	c.(1003-1005)CCC>ACC	p.P335T	DRD2_uc010rwv.1_Missense_Mutation_p.P334T|DRD2_uc001poa.3_Missense_Mutation_p.P335T|DRD2_uc001pob.3_Missense_Mutation_p.P306T	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	335	Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GCAATCTTGGGGTGGTCTTTG	0.587													T	113283413	G	T	113283413	3	4	27	1	0	0	0	0	1	0	0	0	4757	1232	43	5	336	5	DRD2	11	113283413	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	73368	113283413	21723103	5391	29342											
DRD2	1813	broad.mit.edu	37	chr11	113295153	113295153	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtcggccactgcgaggctgAcgatcaggtagttggtggtg	18	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:113295153A>T	uc001pnz.2	-	1	542	c.221T>A	c.(220-222)GTC>GAC	p.V74D	DRD2_uc010rwv.1_Missense_Mutation_p.V74D|DRD2_uc001poa.3_Missense_Mutation_p.V74D|DRD2_uc001pob.3_Missense_Mutation_p.V74D|DRD2_uc009yyr.1_Missense_Mutation_p.V74D	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	74	Helical; Name=2; (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	TGCGAGGCTGACGATCAGGTA	0.627													T	113295153	A	T	113295153	3	4	27	1	0	0	0	0	1	0	0	0	4757	275	10	5	1138	5	DRD2	11	113295153	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	11740	113295153	21711363	5392	29343											
USP28	57646	broad.mit.edu	37	chr11	113700038	113700038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgaagaggatactggcCgaaggtctcattgttacaaa	10	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:113700038C>T	uc001poh.2	-	10	973	c.940G>A	c.(940-942)GGC>AGC	p.G314S	USP28_uc001pog.2_Missense_Mutation_p.G22S|USP28_uc010rwy.1_Missense_Mutation_p.G189S|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.G314S	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	314					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GGATACTGGCCGAAGGTCTCA	0.453													T	113700038	C	T	113700038	3	4	27	1	0	0	0	0	1	0	0	0	17055	652	23	1	2357	1	USP28	11	113700038	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	404885	113700038	21306478	5393	29344											
USP28	57646	broad.mit.edu	37	chr11	113700069	113700069	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgttacaaaagggttttccTaggcaaagagagagactttt	10	5	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:113700069T>C	uc001poh.2	-	10	944	c.911_splice	c.e10-1	p.G304_splice	USP28_uc001pog.2_Silent_p.L11L|USP28_uc010rwy.1_Splice_Site_p.G179_splice|USP28_uc001poi.2_Splice_Site|USP28_uc001poj.3_Splice_Site_p.G304_splice	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28						cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AGGGTTTTCCTAGGCAAAGAG	0.428													C	113700069	T	C	113700069	5	2	27	1	0	0	0	0	0	0	1	0	17055	1536	53	3	2388	3	USP28	11	113700069	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	31	113700069	21306447	5394	29345											
HTR3A	3359	broad.mit.edu	37	chr11	113857522	113857522	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccacctcctgcatgtgtctCttgcctctgccctgggctgc	9	18	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:113857522C>A	uc010rxb.1	+	7	1239	c.1006C>A	c.(1006-1008)CTT>ATT	p.L336I	HTR3A_uc010rxa.1_Intron|HTR3A_uc009yyx.2_Intron|HTR3A_uc010rxc.1_Intron	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GCATGTGTCTCTTGCCTCTGC	0.597													A	113857522	C	A	113857522	3	1	27	1	0	0	0	0	1	0	0	0	7444	913	32	5	1058	5	HTR3A	11	113857522	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	157453	113857522	21148994	5395	29346											
ZBTB16	7704	broad.mit.edu	37	chr11	114112918	114112918	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccgtcttctgtctgctgTgtgggaagcgcttccaggcg	15	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:114112918T>G	uc001pop.2	+	5	1747	c.1483T>G	c.(1483-1485)TGT>GGT	p.C495G	ZBTB16_uc001poq.2_Missense_Mutation_p.C495G	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	495	C2H2-type 4.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CTGTCTGCTGTGTGGGAAGCG	0.602													G	114112918	T	G	114112918	3	3	27	1	0	0	0	0	1	0	0	0	17523	1696	59	5	1497	5	ZBTB16	11	114112918	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	255396	114112918	20893598	5396	29347											
ZBTB16	7704	broad.mit.edu	37	chr11	114121116	114121116	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcggccatgatcaagcacCtgagaacgcacaacggcgcc	10	15	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:114121116C>A	uc001pop.2	+	7	2125	c.1861C>A	c.(1861-1863)CTG>ATG	p.L621M	ZBTB16_uc001poq.2_Missense_Mutation_p.L621M	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	621	C2H2-type 8.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GATCAAGCACCTGAGAACGCA	0.612													A	114121116	C	A	114121116	3	1	27	1	0	0	0	0	1	0	0	0	17523	680	24	5	1883	5	ZBTB16	11	114121116	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	8198	114121116	20885400	5397	29348											
ZBTB16	7704	broad.mit.edu	37	chr11	114121139	114121139	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaacgcacaacggcgcctcGccctaccagtgcaccatctg	9	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:114121139G>T	uc001pop.2	+	7	2148	c.1884G>T	c.(1882-1884)TCG>TCT	p.S628S	ZBTB16_uc001poq.2_Silent_p.S628S	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	628					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		ACGGCGCCTCGCCCTACCAGT	0.622													T	114121139	G	T	114121139	2	4	27	1	0	0	0	0	0	0	0	1	17523	1074	38	5		5	ZBTB16	11	114121139	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	23	114121139	20885377	5398	29349											
FAM55A	120400	broad.mit.edu	37	chr11	114392823	114392823	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgttgaggtctttgaaaataTccttcatgataagatagtga	9	5	2	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:114392823T>A	uc001ppa.2	-	6	1502	c.1085A>T	c.(1084-1086)GAT>GTT	p.D362V	FAM55A_uc010rxd.1_Missense_Mutation_p.D211V	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	504						extracellular region					0		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		TTTGAAAATATCCTTCATGAT	0.408													A	114392823	T	A	114392823	3	1	27	1	0	0	0	0	1	0	0	0	5584	1435	50	5	136	5	FAM55A	11	114392823	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	271684	114392823	20613693	5399	29350											
FAM55A	120400	broad.mit.edu	37	chr11	114401086	114401086	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccacattcagtgaagacaTgagaggtgccattaacaaat	10	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:114401086T>C	uc001ppa.2	-	3	635	c.218A>G	c.(217-219)CAT>CGT	p.H73R	FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.H215R	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	215						extracellular region					0		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		AGTGAAGACATGAGAGGTGCC	0.453													C	114401086	T	C	114401086	3	2	27	1	0	0	0	0	1	0	0	0	5584	1464	51	3	1015	3	FAM55A	11	114401086	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	8263	114401086	20605430	5400	29351											
APOA5	116519	broad.mit.edu	37	chr11	116661462	116661462	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgtccacgccccccagcaaCtgggccttggtgtcttcccc	9	19	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:116661462C>A	uc001ppr.2	-	3	491	c.483G>T	c.(481-483)CAG>CAT	p.Q161H	ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.Q161H|APOA5_uc009yzf.2_Missense_Mutation_p.Q161H|APOA5_uc009yzg.2_Missense_Mutation_p.Q187H	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN	apolipoprotein AV precursor	161					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding				0	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CCCCCAGCAACTGGGCCTTGG	0.642													A	116661462	C	A	116661462	3	1	27	1	0	0	0	0	1	0	0	0	784	564	20	5	621	5	APOA5	11	116661462	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2260376	116661462	18345054	5401	29352											
APOA1	335	broad.mit.edu	37	chr11	116707117	116707117	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacgctgtcccagttgtcaaGgagctttaggctggagggtg	15	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:116707117G>T	uc001ppu.1	-	4	290	c.211C>A	c.(211-213)CTT>ATT	p.L71I	APOA1_uc001ppv.1_Missense_Mutation_p.L71I	NM_000039	NP_000030	P02647	APOA1_HUMAN	apolipoprotein A-I preproprotein	71	10 X approximate tandem repeats.|1.				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding				0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CAGTTGTCAAGGAGCTTTAGG	0.617													T	116707117	G	T	116707117	3	4	27	1	0	0	0	0	1	0	0	0	780	1000	35	5	596	5	APOA1	11	116707117	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	45655	116707117	18299399	5402	29353											
SIK3	23387	broad.mit.edu	37	chr11	116744247	116744247	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgggcgcttcagcagctGctgggcatgcagttggatgt	16	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:116744247G>A	uc001ppy.2	-	13	1549	c.1513C>T	c.(1513-1515)CAG>TAG	p.Q505*	SIK3_uc001ppz.2_Nonsense_Mutation_p.Q404*|SIK3_uc001pqa.2_Nonsense_Mutation_p.Q457*	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	505						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						TTCAGCAGCTGCTGGGCATGC	0.582													A	116744247	G	A	116744247	4	1	27	1	0	0	0	0	0	1	0	0	14319	1328	46	2	2322	2	SIK3	11	116744247	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	37130	116744247	18262269	5403	29354											
SIK3	23387	broad.mit.edu	37	chr11	116767020	116767020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccactcagcacgcgggcccGcagattctgcagtgtgcttc	11	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:116767020G>A	uc001ppy.2	-	6	676	c.640C>T	c.(640-642)CGG>TGG	p.R214W	SIK3_uc001ppz.2_Missense_Mutation_p.R113W|SIK3_uc001pqa.2_Missense_Mutation_p.R214W	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	214	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						ACGCGGGCCCGCAGATTCTGC	0.512													A	116767020	G	A	116767020	3	1	27	1	0	0	0	0	1	0	0	0	14319	1086	38	1	3223	1	SIK3	11	116767020	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	22773	116767020	18239496	5404	29355											
PAFAH1B2	5049	broad.mit.edu	37	chr11	117038342	117038342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggctatgcaaagatctGcaaacccctgcatgaactga	11	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:117038342G>A	uc001pqe.1	+	6	719	c.617G>A	c.(616-618)TGC>TAC	p.C206Y	PAFAH1B2_uc009yzk.1_Intron|PAFAH1B2_uc009yzl.1_Intron|PAFAH1B2_uc009yzm.2_Intron|PAFAH1B2_uc009yzn.2_Intron|PAFAH1B2_uc009yzj.1_RNA|uc001pqf.2_5'Flank	NM_002572	NP_002563	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase,	206					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		GCAAAGATCTGCAAACCCCTG	0.502			T	IGH@	MLCLS								A	117038342	G	A	117038342	3	1	27	1	0	0	0	0	1	0	0	0	11385	1319	46	2	635	2	PAFAH1B2	11	117038342	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	271322	117038342	17968174	5405	29356											
SIDT2	51092	broad.mit.edu	37	chr11	117066583	117066583	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgacttctttgacgaccaCgacatctggcacttcctctc	6	16	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:117066583C>T	uc001pqh.1	+	25	2429	c.2388C>T	c.(2386-2388)CAC>CAT	p.H796H	SIDT2_uc010rxe.1_Silent_p.H796H|SIDT2_uc001pqg.2_Silent_p.H817H|SIDT2_uc001pqi.1_Silent_p.H793H|SIDT2_uc001pqj.1_Silent_p.H108H|uc001pqk.1_RNA	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	796	Cytoplasmic (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TTGACGACCACGACATCTGGC	0.602													T	117066583	C	T	117066583	2	4	27	1	0	0	0	0	0	0	0	1	14303	535	19	1		1	SIDT2	11	117066583	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	28241	117066583	17939933	5406	29357											
TAGLN	6876	broad.mit.edu	37	chr11	117074585	117074585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcactaccgtggagatcCcaactggtttatgaagtatg	12	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:117074585C>T	uc001pqm.2	+	4	567	c.446C>T	c.(445-447)CCC>CTC	p.P149L	uc001pqk.1_5'Flank|TAGLN_uc001pql.1_Intron|TAGLN_uc001pqn.2_Missense_Mutation_p.P149L|TAGLN_uc001pqo.2_Missense_Mutation_p.P149L|TAGLN_uc001pqp.2_Missense_Mutation_p.P149L|uc001pqq.1_5'Flank	NM_003186	NP_003177	Q01995	TAGL_HUMAN	transgelin	149					muscle organ development	cytoplasm	actin binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)		CGTGGAGATCCCAACTGGTTT	0.562													T	117074585	C	T	117074585	3	4	27	1	0	0	0	0	1	0	0	0	15535	623	22	4	456	4	TAGLN	11	117074585	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	8002	117074585	17931931	5407	29358											
PCSK7	9159	broad.mit.edu	37	chr11	117089225	117089225	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggggggactgcggaatcgcCttgttttcttttaacacggg	14	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:117089225C>A	uc001pqr.2	-	12	1692	c.1491G>T	c.(1489-1491)AAG>AAT	p.K497N		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	497	Homo B/P.|Extracellular (Potential).				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GCGGAATCGCCTTGTTTTCTT	0.502			T	IGH@	MLCLS								A	117089225	C	A	117089225	3	1	27	1	0	0	0	0	1	0	0	0	11605	680	24	5	890	5	PCSK7	11	117089225	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	14640	117089225	17917291	5408	29359											
RNF214	257160	broad.mit.edu	37	chr11	117152804	117152804	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggctcccatggcagaaaTagccctggcttgggttccct	11	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:117152804T>C	uc001pqt.2	+	11	1575	c.1530T>C	c.(1528-1530)AAT>AAC	p.N510N	RNF214_uc001pqu.2_Silent_p.N510N|RNF214_uc010rxf.1_Silent_p.N355N	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	ring finger protein 214	510	Pro-rich.						zinc ion binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		ATGGCAGAAATAGCCCTGGCT	0.637													C	117152804	T	C	117152804	2	2	27	1	0	0	0	0	0	0	0	1	13478	1403	49	3		3	RNF214	11	117152804	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	63579	117152804	17853712	5409	29360											
RNF214	257160	broad.mit.edu	37	chr11	117155864	117155864	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccttttgtccaactcttaaAtgacggacctgactggggag	10	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:117155864A>T	uc001pqt.2	+	15	2154	c.2109A>T	c.(2107-2109)AAA>AAT	p.K703N	RNF214_uc001pqu.2_Missense_Mutation_p.K703N|RNF214_uc010rxf.1_Missense_Mutation_p.K548N	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	ring finger protein 214	703							zinc ion binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		CAACTCTTAAATGACGGACCT	0.418													T	117155864	A	T	117155864	3	4	27	1	0	0	0	0	1	0	0	0	13478	98	4	5	2163	5	RNF214	11	117155864	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3060	117155864	17850652	5410	29361											
DSCAML1	57453	broad.mit.edu	37	chr11	117310647	117310647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaaggagatgatctttgCtggggctacagggaggagag	16	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:117310647C>T	uc001prh.1	-	22	4050	c.4048G>A	c.(4048-4050)GCA>ACA	p.A1350T		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1290	Extracellular (Potential).|Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATGATCTTTGCTGGGGCTACA	0.547													T	117310647	C	T	117310647	3	4	27	1	0	0	0	0	1	0	0	0	4769	797	28	2	2341	2	DSCAML1	11	117310647	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	154783	117310647	17695869	5411	29362											
DSCAML1	57453	broad.mit.edu	37	chr11	117351946	117351946	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacgagttgatggcatggcAgctgaagaacacagagtccc	12	9	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:117351946A>G	uc001prh.1	-	13	2781	c.2779T>C	c.(2779-2781)TGC>CGC	p.C927R		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	867	Extracellular (Potential).|Ig-like C2-type 9.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATGGCATGGCAGCTGAAGAAC	0.602													G	117351946	A	G	117351946	3	3	27	1	0	0	0	0	1	0	0	0	4769	188	7	3	3646	3	DSCAML1	11	117351946	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	41299	117351946	17654570	5412	29363											
DSCAML1	57453	broad.mit.edu	37	chr11	117376239	117376239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgatgcatgtatagttgccGttgtgcttgagggagacgct	15	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:117376239G>A	uc001prh.1	-	9	2174	c.2172C>T	c.(2170-2172)AAC>AAT	p.N724N		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	664	Extracellular (Potential).|Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TATAGTTGCCGTTGTGCTTGA	0.617													A	117376239	G	A	117376239	2	1	27	1	0	0	0	0	0	0	0	1	4769	1136	40	1		1	DSCAML1	11	117376239	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	24293	117376239	17630277	5413	29364											
MPZL3	196264	broad.mit.edu	37	chr11	118106262	118106262	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggctgagggcacaaagacaAggatggaaagaagggccaca	15	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:118106262A>G	uc001psm.2	-	4	496	c.494T>C	c.(493-495)CTT>CCT	p.L165P	MPZL3_uc010rxy.1_Missense_Mutation_p.L153P|MPZL3_uc010rxz.1_RNA|MPZL3_uc009yzy.2_Intron	NM_198275	NP_938016	Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3 precursor	165	Helical; (Potential).				cell adhesion	integral to membrane					0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CACAAAGACAAGGATGGAAAG	0.537													G	118106262	A	G	118106262	3	3	27	1	0	0	0	0	1	0	0	0	9751	72	3	3	225	3	MPZL3	11	118106262	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	730023	118106262	16900254	5414	29365											
CD3D	915	broad.mit.edu	37	chr11	118211157	118211157	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcccattacacctatatatTcctcgtgggtccaggatgcg	9	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:118211157T>A	uc001pss.1	-	2	344	c.207A>T	c.(205-207)GGA>GGT	p.G69G	CD3D_uc001pst.1_Silent_p.G69G	NM_000732	NP_000723	P04234	CD3D_HUMAN	CD3 antigen, delta subunit isoform A precursor	69	Extracellular (Potential).				positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity			ovary(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		ACCTATATATTCCTCGTGGGT	0.463													A	118211157	T	A	118211157	2	1	27	1	0	0	0	0	0	0	0	1	3010	1770	62	5		5	CD3D	11	118211157	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	104895	118211157	16795359	5415	29366											
MLL	4297	broad.mit.edu	37	chr11	118359369	118359369	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgagcccttccacaagtTttgtttagaggagaacgagc	11	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:118359369T>C	uc001pta.2	+	11	4396	c.4373T>C	c.(4372-4374)TTT>TCT	p.F1458S	MLL_uc001ptb.2_Missense_Mutation_p.F1458S|MLL_uc001pte.1_RNA	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1458	PHD-type 1.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TTCCACAAGTTTTGTTTAGAG	0.418			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								C	118359369	T	C	118359369	3	2	27	1	0	0	0	0	1	0	0	0	9620	1841	64	3	4415	3	MLL	11	118359369	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	148212	118359369	16647147	5416	29367											
MLL	4297	broad.mit.edu	37	chr11	118376836	118376836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaagttcaggaatgtttcCacaactggggacatcacaga	10	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:118376836C>T	uc001pta.2	+	27	10243	c.10220C>T	c.(10219-10221)CCA>CTA	p.P3407L	MLL_uc001ptb.2_Missense_Mutation_p.P3410L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3407					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GGAATGTTTCCACAACTGGGG	0.517			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								T	118376836	C	T	118376836	3	4	27	1	0	0	0	0	1	0	0	0	9620	594	21	4	10326	4	MLL	11	118376836	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	17467	118376836	16629680	5417	29368											
TMEM25	84866	broad.mit.edu	37	chr11	118403848	118403848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggtgcagctgcagctccGcagcctggcacacaacctct	10	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:118403848G>A	uc010rye.1	+	4	773	c.599G>A	c.(598-600)CGC>CAC	p.R200H	TMEM25_uc010ryd.1_Missense_Mutation_p.R200H|TMEM25_uc001ptk.3_Missense_Mutation_p.R200H|TMEM25_uc001pth.2_Missense_Mutation_p.R200H|TMEM25_uc009zad.2_Missense_Mutation_p.R200H|TMEM25_uc001pti.2_Missense_Mutation_p.R96H|TMEM25_uc010ryf.1_Intron|TMEM25_uc001ptl.2_Missense_Mutation_p.R200H|TMEM25_uc001ptm.2_Missense_Mutation_p.R200H|TMEM25_uc001ptn.2_Missense_Mutation_p.R200H	NM_032780	NP_116169	Q86YD3	TMM25_HUMAN	transmembrane protein 25 isoform 1	200	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CTGCAGCTCCGCAGCCTGGCA	0.637													A	118403848	G	A	118403848	3	1	27	1	0	0	0	0	1	0	0	0	16147	1087	38	1	609	1	TMEM25	11	118403848	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	27012	118403848	16602668	5418	29369											
PHLDB1	23187	broad.mit.edu	37	chr11	118498402	118498402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccgctggtacctgcccGttcctccagctaccatctgg	9	19	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:118498402G>A	uc001ptr.1	+	7	1216	c.863G>A	c.(862-864)CGT>CAT	p.R288H	PHLDB1_uc010ryh.1_Missense_Mutation_p.R287H|PHLDB1_uc001pts.2_Missense_Mutation_p.R288H|PHLDB1_uc001ptt.2_Missense_Mutation_p.R288H|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Missense_Mutation_p.R88H|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	288											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GTACCTGCCCGTTCCTCCAGC	0.637													A	118498402	G	A	118498402	3	1	27	1	0	0	0	0	1	0	0	0	11851	1145	40	1	881	1	PHLDB1	11	118498402	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	94554	118498402	16508114	5419	29370											
PHLDB1	23187	broad.mit.edu	37	chr11	118498590	118498590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagccactgagagccccCggctgggtgggcagctgcct	17	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:118498590C>T	uc001ptr.1	+	7	1404	c.1051C>T	c.(1051-1053)CGG>TGG	p.R351W	PHLDB1_uc010ryh.1_Missense_Mutation_p.R350W|PHLDB1_uc001pts.2_Missense_Mutation_p.R351W|PHLDB1_uc001ptt.2_Missense_Mutation_p.R351W|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Missense_Mutation_p.R151W|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	351											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGAGAGCCCCCGGCTGGGTGG	0.657													T	118498590	C	T	118498590	3	4	27	1	0	0	0	0	1	0	0	0	11851	643	23	1	1069	1	PHLDB1	11	118498590	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	188	118498590	16507926	5420	29371											
HYOU1	10525	broad.mit.edu	37	chr11	118919507	118919507	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccccgatctcctctaccAttcgccgcttcctggcgggc	8	20	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:118919507A>G	uc001puu.2	-	18	2277	c.2084T>C	c.(2083-2085)ATG>ACG	p.M695T	HYOU1_uc001put.2_Missense_Mutation_p.M660T|HYOU1_uc010ryu.1_Missense_Mutation_p.M653T|HYOU1_uc010ryv.1_Missense_Mutation_p.M584T|HYOU1_uc001pux.3_Missense_Mutation_p.M695T|HYOU1_uc010ryw.1_RNA	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	695						endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CTCCTCTACCATTCGCCGCTT	0.607													G	118919507	A	G	118919507	3	3	27	1	0	0	0	0	1	0	0	0	7470	217	8	3	951	3	HYOU1	11	118919507	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	420917	118919507	16087009	5421	29372											
HYOU1	10525	broad.mit.edu	37	chr11	118922291	118922291	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacccgtttattgtgcttcAggctgtgaatcccaggctcc	10	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:118922291A>G	uc001puu.2	-	13	1578	c.1385T>C	c.(1384-1386)CTG>CCG	p.L462P	HYOU1_uc001put.2_Missense_Mutation_p.L427P|HYOU1_uc010ryu.1_Missense_Mutation_p.L482P|HYOU1_uc010ryv.1_Missense_Mutation_p.L351P|HYOU1_uc001pux.3_Missense_Mutation_p.L462P|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.L462P	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	462						endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		ATTGTGCTTCAGGCTGTGAAT	0.537													G	118922291	A	G	118922291	3	3	27	1	0	0	0	0	1	0	0	0	7470	188	7	3	1670	3	HYOU1	11	118922291	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2784	118922291	16084225	5422	29373											
PDZD3	79849	broad.mit.edu	37	chr11	119059156	119059156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgtggctggggagagcGtggaggggctgggccatgag	23	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:119059156G>A	uc001pwb.2	+	6	1677	c.1153G>A	c.(1153-1155)GTG>ATG	p.V385M	PDZD3_uc001pvy.2_Missense_Mutation_p.V305M|PDZD3_uc001pvz.2_Missense_Mutation_p.V319M|PDZD3_uc010rzd.1_Missense_Mutation_p.V306M|PDZD3_uc001pwa.2_Missense_Mutation_p.V15M			Q86UT5	NHRF4_HUMAN	RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4;          Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4;	385	PDZ 3.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)	1	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		TGGGGAGAGCGTGGAGGGGCT	0.672													A	119059156	G	A	119059156	3	1	27	1	0	0	0	0	1	0	0	0	11702	1145	40	1	985	1	PDZD3	11	119059156	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	136865	119059156	15947360	5423	29374											
MCAM	4162	broad.mit.edu	37	chr11	119185585	119185585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactcctgggaccgagggcGcttgccctggcacaagaaga	14	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:119185585G>A	uc001pwf.2	-	3	387	c.358C>T	c.(358-360)CGC>TGC	p.R120C		NM_006500	NP_006491	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	120	Extracellular (Potential).|Ig-like V-type 1.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				ovary(2)|breast(1)|central_nervous_system(1)	4		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GACCGAGGGCGCTTGCCCTGG	0.642													A	119185585	G	A	119185585	3	1	27	1	0	0	0	0	1	0	0	0	9368	1087	38	1	1638	1	MCAM	11	119185585	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	126429	119185585	15820931	5424	29375											
RNF26	79102	broad.mit.edu	37	chr11	119205959	119205959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctggctcctggccttcGtctacaacctgccgcacacg	10	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:119205959G>A	uc001pwh.2	+	1	723	c.127G>A	c.(127-129)GTC>ATC	p.V43I		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	ring finger protein 26	43	Leu-rich.						zinc ion binding			ovary(1)	1		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		CCTGGCCTTCGTCTACAACCT	0.607													A	119205959	G	A	119205959	3	1	27	1	0	0	0	0	1	0	0	0	13486	1145	40	1	129	1	RNF26	11	119205959	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	20374	119205959	15800557	5425	29376											
MFRP	83552	broad.mit.edu	37	chr11	119213688	119213688	+	Frame_Shift_Del	DEL	G	G	-													atggtgcgaggagacgaggtGggggggtggctctgctccac							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:119213688delG	uc001pwj.2	-	10	1310	c.1150delC	c.(1150-1152)CACfs	p.H384fs	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Frame_Shift_Del_p.P308fs	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GAGACGAGGTGGGGGGGTGGC	0.622													-	119213688	G	-	119213688	7	5	27	1	0	1	0	1	0	0	0	0	9526	1348	47	0	605	0	MFRP	11	119213688	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	7729	119213688	15792828	5426	29377											
MFRP	83552	broad.mit.edu	37	chr11	119217211	119217211	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgcagaggatgacatctgAgaagtccttcatggcacaag	11	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:119217211A>G	uc001pwj.2	-	1	173	c.13T>C	c.(13-15)TCA>CCA	p.S5P	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.S5P	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		ATGACATCTGAGAAGTCCTTC	0.562													G	119217211	A	G	119217211	3	3	27	1	0	0	0	0	1	0	0	0	9526	304	11	3	1778	3	MFRP	11	119217211	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3523	119217211	15789305	5427	29378											
USP2	9099	broad.mit.edu	37	chr11	119243939	119243939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttaccacccccagtgatGtcgggtctcagcagggggcg	14	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:119243939G>A	uc001pwm.3	-	2	547	c.252C>T	c.(250-252)GAC>GAT	p.D84D	USP2_uc001pwn.3_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	84	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CCCCAGTGATGTCGGGTCTCA	0.667													A	119243939	G	A	119243939	2	1	27	1	0	0	0	0	0	0	0	1	17048	1368	48	4		4	USP2	11	119243939	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	26728	119243939	15762577	5428	29379											
POU2F3	25833	broad.mit.edu	37	chr11	120169101	120169101	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgccagcccatgtcaggTaacactgtgattttcacagt	8	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:120169101T>C	uc001pxc.2	+	4	360	c.258_splice	c.e4+2	p.Q86_splice	POU2F3_uc010rzk.1_Splice_Site_p.G25_splice|POU2F3_uc010rzl.1_Splice_Site_p.Q16_splice	NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN	POU transcription factor						negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			ovary(1)|skin(1)	2		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CCATGTCAGGTAACACTGTGA	0.532													C	120169101	T	C	120169101	5	2	27	1	0	0	0	0	0	0	1	0	12273	1652	57	3	274	3	POU2F3	11	120169101	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	925162	120169101	14837415	5429	29380											
ARHGEF12	23365	broad.mit.edu	37	chr11	120319906	120319906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccccacggagaccaagccGtcatgacaacagtgcaagta	9	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:120319906G>A	uc001pxl.1	+	21	1833	c.1826G>A	c.(1825-1827)CGT>CAT	p.R609H	ARHGEF12_uc009zat.2_Missense_Mutation_p.R590H|ARHGEF12_uc010rzn.1_Missense_Mutation_p.R506H|ARHGEF12_uc009zau.1_Missense_Mutation_p.R506H	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	609					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AGACCAAGCCGTCATGACAAC	0.463			T	MLL	AML								A	120319906	G	A	120319906	3	1	27	1	0	0	0	0	1	0	0	0	897	1145	40	1	1908	1	ARHGEF12	11	120319906	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	150805	120319906	14686610	5430	29381											
TECTA	7007	broad.mit.edu	37	chr11	120996433	120996433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgtggcactgtcgtggaCcccactgcttttgtgcacag	13	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:120996433C>T	uc010rzo.1	+	7	1626	c.1626C>T	c.(1624-1626)GAC>GAT	p.D542D		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	542					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGTCGTGGACCCCACTGCTT	0.587													T	120996433	C	T	120996433	2	4	27	1	0	0	0	0	0	0	0	1	15744	506	18	4		4	TECTA	11	120996433	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	676527	120996433	14010083	5431	29382											
SORL1	6653	broad.mit.edu	37	chr11	121429410	121429410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgtgaagtggcccaatgGcatctctgtggacgaccagt	14	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:121429410G>A	uc001pxx.2	+	20	2854	c.2774G>A	c.(2773-2775)GGC>GAC	p.G925D		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	925	Extracellular (Potential).|LDL-receptor class B 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGGCCCAATGGCATCTCTGTG	0.547													A	121429410	G	A	121429410	3	1	27	1	0	0	0	0	1	0	0	0	14934	1203	42	2	2852	2	SORL1	11	121429410	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	432977	121429410	13577106	5432	29383											
SORL1	6653	broad.mit.edu	37	chr11	121454212	121454212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacttccagtgccgaaacgGgcactgcatcccccagcggt	10	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:121454212G>A	uc001pxx.2	+	26	3706	c.3626G>A	c.(3625-3627)GGG>GAG	p.G1209E	SORL1_uc010rzp.1_Missense_Mutation_p.G55E	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1209	Extracellular (Potential).|LDL-receptor class A 4.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGCCGAAACGGGCACTGCATC	0.572													A	121454212	G	A	121454212	3	1	27	1	0	0	0	0	1	0	0	0	14934	1232	43	4	3728	4	SORL1	11	121454212	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	24802	121454212	13552304	5433	29384											
C11orf63	79864	broad.mit.edu	37	chr11	122756903	122756903	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagggcgccaataacaggTaaggaattggcttgtgtaag	13	7	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:122756903T>C	uc001pym.2	+	2	641	c.344_splice	c.e2+2	p.R115_splice	C11orf63_uc001pyl.1_Splice_Site_p.R115_splice	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1											ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CAATAACAGGTAAGGAATTGG	0.463													C	122756903	T	C	122756903	5	2	27	1	0	0	0	0	0	0	1	0	1654	1652	57	3	348	3	C11orf63	11	122756903	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1302691	122756903	12249613	5434	29385											
C11orf63	79864	broad.mit.edu	37	chr11	122774952	122774952	+	Missense_Mutation	SNP	T	T	A													acagtgacctggaggagaagTcgagcagcctttctccgtac							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:122774952T>A	uc001pym.2	+	3	961	c.664T>A	c.(664-666)TCG>ACG	p.S222T	C11orf63_uc001pyl.1_Missense_Mutation_p.S222T	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	222										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GGAGGAGAAGTCGAGCAGCCT	0.502													A	122774952	T	A	122774952	3	1	27	1	0	0	0	0	1	0	0	0	1654	1667	58	5	670	5	C11orf63	11	122774952	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	18049	122774952	12231564	5435	29386	99	2									
C11orf63	79864	broad.mit.edu	37	chr11	122774956	122774956	+	Missense_Mutation	SNP	G	G	A													tgacctggaggagaagtcgaGcagcctttctccgtacgtga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:122774956G>A	uc001pym.2	+	3	965	c.668G>A	c.(667-669)AGC>AAC	p.S223N	C11orf63_uc001pyl.1_Missense_Mutation_p.S223N	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	223										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GAGAAGTCGAGCAGCCTTTCT	0.507													A	122774956	G	A	122774956	3	1	27	1	0	0	0	0	1	0	0	0	1654	971	34	2	674	2	C11orf63	11	122774956	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4	122774956	12231560	5436	29387	99	2									
C11orf63	79864	broad.mit.edu	37	chr11	122805178	122805178	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtacaaaatcaagcaatgtAccaagagggcaaccttctga	8	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:122805178A>G	uc001pym.2	+	5	1326	c.1029A>G	c.(1027-1029)GTA>GTG	p.V343V		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	343										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CAAGCAATGTACCAAGAGGGC	0.403													G	122805178	A	G	122805178	2	3	27	1	0	0	0	0	0	0	0	1	1654	378	14	3		3	C11orf63	11	122805178	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	30222	122805178	12201338	5437	29388											
HSPA8	3312	broad.mit.edu	37	chr11	122929501	122929501	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcaaacttgccaagcaggTtgttatcctttgtcatggca	9	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:122929501T>C	uc001pyo.2	-	7	1439	c.1361A>G	c.(1360-1362)AAC>AGC	p.N454S	HSPA8_uc009zbc.2_Missense_Mutation_p.N218S|HSPA8_uc001pyp.2_Missense_Mutation_p.N454S|HSPA8_uc010rzu.1_Missense_Mutation_p.N377S	NM_006597	NP_006588	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8 isoform 1	454					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			central_nervous_system(7)|lung(1)	8		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GCCAAGCAGGTTGTTATCCTT	0.453													C	122929501	T	C	122929501	3	2	27	1	0	0	0	0	1	0	0	0	7416	1725	60	3	591	3	HSPA8	11	122929501	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	124323	122929501	12077015	5438	29389											
OR8D4	338662	broad.mit.edu	37	chr11	123777391	123777391	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctaaaatgctatcagggTttttatgcagagatagatcc	8	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:123777391T>G	uc010saa.1	+	1	253	c.253T>G	c.(253-255)TTT>GTT	p.F85V		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D,	85	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		GCTATCAGGGTTTTTATGCAG	0.378													G	123777391	T	G	123777391	3	3	27	1	0	0	0	0	1	0	0	0	11233	1725	60	5	255	5	OR8D4	11	123777391	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	847890	123777391	11229125	5439	29390											
OR10G8	219869	broad.mit.edu	37	chr11	123900356	123900356	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgccagcctactgacagcGttcatcctcatgggccttcc	8	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:123900356G>A	uc001pzp.1	+	1	27	c.27G>A	c.(25-27)GCG>GCA	p.A9A		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TACTGACAGCGTTCATCCTCA	0.542													A	123900356	G	A	123900356	2	1	27	1	0	0	0	0	0	0	0	1	10903	1132	40	1		1	OR10G8	11	123900356	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	122965	123900356	11106160	5440	29391											
VWA5A	4013	broad.mit.edu	37	chr11	124016061	124016061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccgtggcctggatgcgtGcccatgcaggtaggagcaca	16	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:124016061G>A	uc001pzu.2	+	18	2481	c.2272G>A	c.(2272-2274)GCC>ACC	p.A758T	VWA5A_uc001pzt.2_Missense_Mutation_p.A758T	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	758										upper_aerodigestive_tract(1)|ovary(1)	2						CTGGATGCGTGCCCATGCAGG	0.592													A	124016061	G	A	124016061	3	1	27	1	0	0	0	0	1	0	0	0	17239	1319	46	2	2338	2	VWA5A	11	124016061	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	115705	124016061	10990455	5441	29392											
OR8G2	26492	broad.mit.edu	37	chr11	124095831	124095831	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctgcagccccttgctgtAcaatgtcatcatgtcctatc	6	14	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:124095831A>G	uc010saf.1	+	1	434	c.434A>G	c.(433-435)TAC>TGC	p.Y145C		NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN	olfactory receptor, family 8, subfamily G,	145						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CCCTTGCTGTACAATGTCATC	0.453													G	124095831	A	G	124095831	3	3	27	1	0	0	0	0	1	0	0	0	11235	391	14	3	436	3	OR8G2	11	124095831	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	79770	124095831	10910685	5442	29393											
OR8B2	26595	broad.mit.edu	37	chr11	124253182	124253182	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggttgccggaactctggatGatctgttaatccagcaagaa	12	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:124253182G>A	uc010sai.1	-	1	58	c.58C>T	c.(58-60)CAT>TAT	p.H20Y	OR8B2_uc001qab.3_RNA	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AACTCTGGATGATCTGTTAAT	0.388													A	124253182	G	A	124253182	3	1	27	1	0	0	0	0	1	0	0	0	11227	1290	45	4	886	4	OR8B2	11	124253182	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	157351	124253182	10753334	5443	29394											
OR8B3	390271	broad.mit.edu	37	chr11	124266612	124266612	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acataagaaatgaggatggtAcaactgggtaccatgatatt	10	5	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:124266612A>G	uc010saj.1	-	1	636	c.636T>C	c.(634-636)TGT>TGC	p.C212C	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TGAGGATGGTACAACTGGGTA	0.428													G	124266612	A	G	124266612	2	3	27	1	0	0	0	0	0	0	0	1	11228	389	14	3		3	OR8B3	11	124266612	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	13430	124266612	10739904	5444	29395											
OR8B8	26493	broad.mit.edu	37	chr11	124310559	124310559	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacccaacaaaaggagaaaAcacacctggggagacatggt	10	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:124310559A>G	uc010sal.1	-	1	423	c.423T>C	c.(421-423)TGT>TGC	p.C141C		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AAAGGAGAAAACACACCTGGG	0.522													G	124310559	A	G	124310559	2	3	27	1	0	0	0	0	0	0	0	1	11230	41	2	3		3	OR8B8	11	124310559	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	43947	124310559	10695957	5445	29396											
OR8B8	26493	broad.mit.edu	37	chr11	124310909	124310909	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaacaggaagaagagggggaTctggactcccggttggtcag	16	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:124310909T>A	uc010sal.1	-	1	73	c.73A>T	c.(73-75)ATC>TTC	p.I25F		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	25	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AAGAGGGGGATCTGGACTCCC	0.517													A	124310909	T	A	124310909	3	1	27	1	0	0	0	0	1	0	0	0	11230	1435	50	5	865	5	OR8B8	11	124310909	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	350	124310909	10695607	5446	29397											
OR8B12	219858	broad.mit.edu	37	chr11	124413100	124413100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccatggccccagcaaaccCcatcccataggcacccaaca	7	19	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:124413100C>T	uc010sam.1	-	1	451	c.451G>A	c.(451-453)GGG>AGG	p.G151R		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	151	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CCAGCAAACCCCATCCCATAG	0.517													T	124413100	C	T	124413100	3	4	27	1	0	0	0	0	1	0	0	0	11226	623	22	4	483	4	OR8B12	11	124413100	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	102191	124413100	10593416	5447	29398											
OR8B12	219858	broad.mit.edu	37	chr11	124413431	124413431	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggttatcaagcccaggttCcccaccacggtgaccgtgta	11	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:124413431C>T	uc010sam.1	-	1	120	c.120G>A	c.(118-120)GGG>GGA	p.G40G		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		AGCCCAGGTTCCCCACCACGG	0.502													T	124413431	C	T	124413431	2	4	27	1	0	0	0	0	0	0	0	1	11226	842	30	4		4	OR8B12	11	124413431	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	331	124413431	10593085	5448	29399											
VSIG2	23584	broad.mit.edu	37	chr11	124618372	124618372	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaacgcagcaactgacagCaacagcacgcccaggagcac	10	15	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:124618372C>T	uc001qas.2	-	6	841	c.765G>A	c.(763-765)TTG>TTA	p.L255L	VSIG2_uc001qat.2_Silent_p.L255L	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	255	Helical; (Potential).					integral to plasma membrane|membrane fraction				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CAACTGACAGCAACAGCACGC	0.587													T	124618372	C	T	124618372	2	4	27	1	0	0	0	0	0	0	0	1	17221	709	25	2		2	VSIG2	11	124618372	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	204941	124618372	10388144	5449	29400											
ESAM	90952	broad.mit.edu	37	chr11	124628331	124628331	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacacctccccgtgcaaggTgtaccacgctggaagcacca	10	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:124628331T>C	uc001qav.3	-	2	336	c.163A>G	c.(163-165)ACC>GCC	p.T55A	ESAM_uc010sao.1_Intron|ESAM_uc001qau.3_5'Flank|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_Missense_Mutation_p.T55A	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule precursor	55	Extracellular (Potential).|Ig-like V-type.				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction					0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CCGTGCAAGGTGTACCACGCT	0.612											OREG0021463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	124628331	T	C	124628331	3	2	27	1	0	0	0	0	1	0	0	0	5247	1696	59	3	1033	3	ESAM	11	124628331	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9959	124628331	10378185	5450	29401											
C11orf61	79684	broad.mit.edu	37	chr11	124637844	124637844	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagatggagccttgaaaagTctgtccagctctgaaaaagt	10	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:124637844T>C	uc001qba.1	-	4	931	c.908A>G	c.(907-909)GAC>GGC	p.D303G	C11orf61_uc001qaz.1_Missense_Mutation_p.D251G|C11orf61_uc010sap.1_Missense_Mutation_p.D23G|C11orf61_uc001qay.1_Missense_Mutation_p.D73G	NM_024631	NP_078907	Q6P1R3	CK061_HUMAN	hypothetical protein LOC79684	303											0	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0079)		CCTTGAAAAGTCTGTCCAGCT	0.388													C	124637844	T	C	124637844	3	2	27	1	0	0	0	0	1	0	0	0	1653	1667	58	3	775	3	C11orf61	11	124637844	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9513	124637844	10368672	5451	29402											
ROBO4	54538	broad.mit.edu	37	chr11	124766208	124766208	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccatcagcagggacccccCggacacctgtcagggccagg	13	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:124766208C>A	uc001qbg.2	-	4	705	c.565G>T	c.(565-567)GGG>TGG	p.G189W	ROBO4_uc010sas.1_Missense_Mutation_p.G44W|ROBO4_uc001qbh.2_Missense_Mutation_p.G79W|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	189	Ig-like C2-type 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGGGACCCCCCGGACACCTGT	0.622													A	124766208	C	A	124766208	3	1	27	1	0	0	0	0	1	0	0	0	13516	652	23	5	2518	5	ROBO4	11	124766208	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	128364	124766208	10240308	5452	29403											
HEPACAM	220296	broad.mit.edu	37	chr11	124794859	124794859	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgccacttcactacaggCctgtcgctgctggtactgct	10	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:124794859C>T	uc001qbk.2	-	2	598	c.192G>A	c.(190-192)AGG>AGA	p.R64R	HEPACAM_uc009zbj.2_5'Flank|HEPACAM_uc001qbl.1_Silent_p.R64R	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	hepatocyte cell adhesion molecule precursor	64	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				pancreas(1)	1	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TCACTACAGGCCTGTCGCTGC	0.617													T	124794859	C	T	124794859	2	4	27	1	0	0	0	0	0	0	0	1	7052	738	26	2		2	HEPACAM	11	124794859	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	28651	124794859	10211657	5453	29404											
CCDC15	80071	broad.mit.edu	37	chr11	124857077	124857077	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaagaggaagaacaaaagCagttacattttgagggcctt	12	5	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:124857077C>A	uc001qbm.3	+	8	1214	c.955C>A	c.(955-957)CAG>AAG	p.Q319K		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	319						centrosome				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AGAACAAAAGCAGTTACATTT	0.383													A	124857077	C	A	124857077	3	1	27	1	0	0	0	0	1	0	0	0	2784	711	25	5	981	5	CCDC15	11	124857077	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	62218	124857077	10149439	5454	29405											
SLC37A2	219855	broad.mit.edu	37	chr11	124954765	124954765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggacgggattgccagctcCataggtgaggaggaggttgc	17	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:124954765C>T	uc001qbn.2	+	13	1421	c.1170C>T	c.(1168-1170)TCC>TCT	p.S390S	SLC37A2_uc010sau.1_Silent_p.S390S|SLC37A2_uc010sav.1_Silent_p.S15S|SLC37A2_uc001qbp.2_Silent_p.S15S	NM_001145290	NP_001138762	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glycerol-3-phosphate	390					carbohydrate transport|transmembrane transport	integral to membrane				ovary(2)	2	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TTGCCAGCTCCATAGGTGAGG	0.627													T	124954765	C	T	124954765	2	4	27	1	0	0	0	0	0	0	0	1	14598	581	21	4		4	SLC37A2	11	124954765	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	97688	124954765	10051751	5455	29406											
ACRV1	56	broad.mit.edu	37	chr11	125547886	125547886	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctccggagaggtgttcacctGaaggctgttctcctgaaggc	13	11	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:125547886G>A	uc001qcs.2	-	2	626	c.359C>T	c.(358-360)TCA>TTA	p.S120L	ACRV1_uc001qck.2_Missense_Mutation_p.S50L|ACRV1_uc001qcl.2_Missense_Mutation_p.S50L|ACRV1_uc001qcm.2_Intron|ACRV1_uc001qcn.2_Missense_Mutation_p.S65L|ACRV1_uc001qco.2_Intron|ACRV1_uc001qcp.2_Intron|ACRV1_uc001qcq.2_Missense_Mutation_p.S50L|ACRV1_uc001qcr.2_Missense_Mutation_p.S120L	NM_001612	NP_001603	P26436	ASPX_HUMAN	acrosomal vesicle protein 1 isoform a precursor	120	4 X 4 AA repeats of S-G-E-H.|2-2.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development	acrosomal vesicle					0	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		GTGTTCACCTGAAGGCTGTTC	0.537													A	125547886	G	A	125547886	3	1	27	1	0	0	0	0	1	0	0	0	172	1294	45	4	450	4	ACRV1	11	125547886	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	593121	125547886	9458630	5456	29407											
PUS3	83480	broad.mit.edu	37	chr11	125765945	125765945	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttttcctgactagcaaAgccctggtatccccagccca	8	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:125765945A>C	uc001qcy.2	-	2	333	c.235T>G	c.(235-237)TTT>GTT	p.F79V	HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	79						nucleus	RNA binding			ovary(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		TGACTAGCAAAGCCCTGGTAT	0.443													C	125765945	A	C	125765945	3	2	27	1	0	0	0	0	1	0	0	0	12832	72	3	5	1222	5	PUS3	11	125765945	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	218059	125765945	9240571	5457	29408											
HYLS1	219844	broad.mit.edu	37	chr11	125769525	125769525	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtctctgaggcctcccaaAgactccgaaagccagtgatg	10	13	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:125769525A>C	uc009zbv.2	+	4	796	c.262A>C	c.(262-264)AGA>CGA	p.R88R	HYLS1_uc001qcx.3_Silent_p.R88R|PUS3_uc001qcy.2_Intron	NM_145014	NP_659451	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	88						centrosome|nucleus				upper_aerodigestive_tract(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		GGCCTCCCAAAGACTCCGAAA	0.483													C	125769525	A	C	125769525	2	2	27	1	0	0	0	0	0	0	0	1	7469	64	3	5		5	HYLS1	11	125769525	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3580	125769525	9236991	5458	29409											
FOXRED1	55572	broad.mit.edu	37	chr11	126146977	126146977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactccagcaggaagaaccGgacccggcgaacctggaagt	12	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:126146977G>A	uc001qdi.2	+	10	1160	c.1113G>A	c.(1111-1113)CCG>CCA	p.P371P	FOXRED1_uc010sbn.1_Silent_p.P201P|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_Silent_p.P184P|FOXRED1_uc010sbq.1_Silent_p.P238P|FOXRED1_uc001qdj.2_Silent_p.P160P|FOXRED1_uc010sbr.1_Silent_p.P357P|FOXRED1_uc001qdk.2_Silent_p.P160P	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing	371						integral to membrane|mitochondrion	oxidoreductase activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		AGGAAGAACCGGACCCGGCGA	0.557													A	126146977	G	A	126146977	2	1	27	1	0	0	0	0	0	0	0	1	6033	1103	39	1		1	FOXRED1	11	126146977	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	377452	126146977	8859539	5459	29410											
KCNJ5	3762	broad.mit.edu	37	chr11	128786318	128786318	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccaggcatgacctgccaaGcccggagctcctacatggat	10	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:128786318G>T	uc001qet.2	+	3	1266	c.952G>T	c.(952-954)GCC>TCC	p.A318S	KCNJ5_uc009zck.2_Missense_Mutation_p.A318S|KCNJ5_uc001qew.2_Missense_Mutation_p.A318S	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	318	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GACCTGCCAAGCCCGGAGCTC	0.393													T	128786318	G	T	128786318	3	4	27	1	0	0	0	0	1	0	0	0	8054	971	34	5	958	5	KCNJ5	11	128786318	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2639341	128786318	6220198	5460	29411											
ARHGAP32	9743	broad.mit.edu	37	chr11	128840677	128840677	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgagaagcatgcttaggTtgtgggacaggaagtggtaa	15	4	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:128840677T>C	uc009zcp.2	-	22	4389	c.4389A>G	c.(4387-4389)CAA>CAG	p.Q1463Q	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.Q422Q|ARHGAP32_uc001qez.2_Silent_p.Q1114Q	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1463	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						CATGCTTAGGTTGTGGGACAG	0.463													C	128840677	T	C	128840677	2	2	27	1	0	0	0	0	0	0	0	1	881	1722	60	3		3	ARHGAP32	11	128840677	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	54359	128840677	6165839	5461	29412											
ARHGAP32	9743	broad.mit.edu	37	chr11	128842579	128842579	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagttgtcatgtaagtcatGgtggctgtgctggtattctc	13	6	3	0	rs140063259		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:128842579G>T	uc009zcp.2	-	21	3780	c.3780C>A	c.(3778-3780)ACC>ACA	p.T1260T	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.T219T|ARHGAP32_uc001qez.2_Silent_p.T911T	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1260					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						TGTAAGTCATGGTGGCTGTGC	0.493													T	128842579	G	T	128842579	2	4	27	1	0	0	0	0	0	0	0	1	881	1335	47	5		5	ARHGAP32	11	128842579	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1902	128842579	6163937	5462	29413											
NFRKB	4798	broad.mit.edu	37	chr11	129739947	129739947	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtcccgaagaggtcctgGgtcaatttgactgtggtaac	12	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:129739947G>A	uc001qfi.2	-	24	3174	c.2973C>T	c.(2971-2973)ACC>ACT	p.T991T	NFRKB_uc001qfg.2_Silent_p.T1016T|NFRKB_uc001qfh.2_Silent_p.T1014T|NFRKB_uc010sbw.1_Silent_p.T1001T|NFRKB_uc009zcr.2_Silent_p.T277T	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	991					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		AGAGGTCCTGGGTCAATTTGA	0.547													A	129739947	G	A	129739947	2	1	27	1	0	0	0	0	0	0	0	1	10384	1219	43	4		4	NFRKB	11	129739947	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	897368	129739947	5266569	5463	29414											
ADAMTS8	11095	broad.mit.edu	37	chr11	130275557	130275557	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggggtccctgcactctacagTtcgcctctgccagccggccc	11	18	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:130275557T>A	uc001qgg.3	-	9	2924	c.2566A>T	c.(2566-2568)ACT>TCT	p.T856S	ADAMTS8_uc001qgf.2_Missense_Mutation_p.T337S	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	856	TSP type-1 2.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CACTCTACAGTTCGCCTCTGC	0.652													A	130275557	T	A	130275557	3	1	27	1	0	0	0	0	1	0	0	0	272	1725	60	5	107	5	ADAMTS8	11	130275557	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	535610	130275557	4730959	5464	29415											
ADAMTS15	170689	broad.mit.edu	37	chr11	130319172	130319172	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcagacctgcgacgctgcTtctattctggggacgtgaac	11	12	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:130319172T>C	uc010scd.1	+	1	304	c.304T>C	c.(304-306)TTC>CTC	p.F102L		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	102					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCGACGCTGCTTCTATTCTGG	0.667													C	130319172	T	C	130319172	3	2	27	1	0	0	0	0	1	0	0	0	260	1609	56	3	306	3	ADAMTS15	11	130319172	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	43615	130319172	4687344	5465	29416											
SNX19	399979	broad.mit.edu	37	chr11	130775969	130775969	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgttggctgcatttccagTaactttgtctgtttttcaat	7	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:130775969T>C	uc001qgk.3	-	7	2870	c.2322A>G	c.(2320-2322)TTA>TTG	p.L774L	SNX19_uc009zcw.2_Silent_p.L11L|SNX19_uc010sce.1_Silent_p.L154L|SNX19_uc010scf.1_Silent_p.L217L|SNX19_uc010scg.1_Silent_p.L11L|SNX19_uc001qgl.3_Silent_p.L757L|SNX19_uc009zcx.1_RNA	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	774					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GCATTTCCAGTAACTTTGTCT	0.458													C	130775969	T	C	130775969	2	2	27	1	0	0	0	0	0	0	0	1	14890	1635	57	3		3	SNX19	11	130775969	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	456797	130775969	4230547	5466	29417											
OPCML	4978	broad.mit.edu	37	chr11	132812874	132812874	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgttgtccatagctttgggGaaggtggcatctccgctgcg	14	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:132812874G>A	uc001qgs.2	-	1	164	c.114C>T	c.(112-114)TTC>TTT	p.F38F	OPCML_uc001qgu.2_Silent_p.F31F|OPCML_uc010sck.1_Silent_p.F38F|OPCML_uc001qgt.2_Silent_p.F38F|OPCML_uc010scl.1_5'UTR	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	38					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TAGCTTTGGGGAAGGTGGCAT	0.662													A	132812874	G	A	132812874	2	1	27	1	0	0	0	0	0	0	0	1	10874	1165	41	4		4	OPCML	11	132812874	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2036905	132812874	2193642	5467	29418											
IGSF9B	22997	broad.mit.edu	37	chr11	133790109	133790109	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccggggctggggctcatAccaccgggtgtccaggccaa	17	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr11:133790109A>G	uc001qgx.3	-	18	3742	c.3511T>C	c.(3511-3513)TAT>CAT	p.Y1171H		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1171	Pro-rich.|Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGGGGCTCATACCACCGGGTG	0.692													G	133790109	A	G	133790109	3	3	27	1	0	0	0	0	1	0	0	0	7606	391	14	3	546	3	IGSF9B	11	133790109	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	977235	133790109	1216407	5468	29419											
IQSEC3	440073	broad.mit.edu	37	chr12	247988	247988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctcatgatggctttccggGacgtcacggtgcagatcgcc	12	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:247988G>A	uc001qhw.1	+	1	556	c.550G>A	c.(550-552)GAC>AAC	p.D184N	IQSEC3_uc001qhu.1_Missense_Mutation_p.D184N|IQSEC3_uc001qht.1_Missense_Mutation_p.D269N|uc001qhv.1_Intron	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	487					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GGCTTTCCGGGACGTCACGGT	0.572													A	247988	G	A	247988	3	1	27	1	0	0	0	0	1	0	0	0	7819	1174	41	4	1473	4	IQSEC3	12	247988	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08		247988	133603907	5469	29420											
KDM5A	5927	broad.mit.edu	37	chr12	432249	432249	+	Splice_Site	DEL	T	T	-													caaaagaaggaaatttaaccTtttttgtggttgaagttagc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:432248_432248CT>C	uc001qif.1	-	16	2638	c.2275_splice	c.e16+1	p.D759_splice	KDM5A_uc010sdn.1_Splice_Site_p.D718_splice	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	759					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GAAATTTAACCTTTTTTGTGG	0.358			T	NUP98	AML								-	432249	T	-	432249	8	5	27	1	0	1	0	1	0	0	1	0	8133	1623	56	0	2850	0	KDM5A	12	432249	Splice_Site	DEL	T	TCGA-BR-6452-01A-12D-1800-08	184261	432249	133419646	5470	29421											
WNK1	65125	broad.mit.edu	37	chr12	968488	968488	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtagaattagcagaagaagAtgatggagaaaaaatagcca	12	3	0	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:968488A>G	uc001qio.3	+	6	1985	c.1478A>G	c.(1477-1479)GAT>GGT	p.D493G	WNK1_uc001qip.3_Missense_Mutation_p.D493G|WNK1_uc001qir.3_5'Flank	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	493					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GCAGAAGAAGATGATGGAGAA	0.333													G	968488	A	G	968488	3	3	27	1	0	0	0	0	1	0	0	0	17374	333	12	3	1500	3	WNK1	12	968488	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	536239	968488	132883407	5471	29422											
WNK1	65125	broad.mit.edu	37	chr12	994674	994674	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctcagcctggtgggctgcaTcctttggtcattccatcagt	10	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:994674T>A	uc001qio.3	+	19	5211	c.4704T>A	c.(4702-4704)CAT>CAA	p.H1568Q	WNK1_uc001qip.3_Missense_Mutation_p.H1321Q|WNK1_uc001qir.3_Missense_Mutation_p.H741Q	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1568					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTGGGCTGCATCCTTTGGTCA	0.488													A	994674	T	A	994674	3	1	27	1	0	0	0	0	1	0	0	0	17374	1432	50	5	6280	5	WNK1	12	994674	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	26186	994674	132857221	5472	29423											
WNK1	65125	broad.mit.edu	37	chr12	1003798	1003798	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttttaagatgggacgattTcaggtaagacagtcactttg	11	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:1003798T>C	uc001qio.3	+	23	6087	c.5580T>C	c.(5578-5580)TTT>TTC	p.F1860F	WNK1_uc001qip.3_Silent_p.F1612F|WNK1_uc001qir.3_Silent_p.F1033F	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1860					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TGGGACGATTTCAGGTAAGAC	0.403													C	1003798	T	C	1003798	2	2	27	1	0	0	0	0	0	0	0	1	17374	1780	62	3		3	WNK1	12	1003798	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9124	1003798	132848097	5473	29424											
WNK1	65125	broad.mit.edu	37	chr12	1006677	1006677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattcaggacctgcagagtcGccagaagcatgaaattgaat	11	8	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:1006677G>A	uc001qio.3	+	25	6785	c.6278G>A	c.(6277-6279)CGC>CAC	p.R2093H	WNK1_uc001qip.3_Missense_Mutation_p.R1845H|WNK1_uc001qir.3_Missense_Mutation_p.R1266H|WNK1_uc009zdm.1_5'Flank|WNK1_uc009zdn.1_5'Flank	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2093					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTGCAGAGTCGCCAGAAGCAT	0.433													A	1006677	G	A	1006677	3	1	27	1	0	0	0	0	1	0	0	0	17374	1087	38	1	7878	1	WNK1	12	1006677	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2879	1006677	132845218	5474	29425											
RAD52	5893	broad.mit.edu	37	chr12	1038990	1038990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccatcccctcaccttcaGctggaccctcacaaatgcac	4	19	3	0	rs144619978	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:1038990G>A	uc001qis.1	-	5	457	c.343C>T	c.(343-345)CTG>TTG	p.L115L	RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Silent_p.L38L|RAD52_uc001qiu.1_Silent_p.L115L|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_Intron|RAD52_uc010sdu.1_Silent_p.L115L|RAD52_uc001qix.1_Silent_p.L115L	NM_134424	NP_602296	P43351	RAD52_HUMAN	RAD52 homolog	115					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			CTCACCTTCAGCTGGACCCTC	0.542								Homologous_recombination					A	1038990	G	A	1038990	2	1	27	1	0	0	0	0	0	0	0	1	12991	962	34	2		2	RAD52	12	1038990	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	32313	1038990	132812905	5475	29426											
ADIPOR2	79602	broad.mit.edu	37	chr12	1882031	1882031	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaggaacatgaatacagTgatgaagctcctcaggaaga	11	7	2	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:1882031T>C	uc001qjm.2	+	3	392	c.195T>C	c.(193-195)AGT>AGC	p.S65S	ADIPOR2_uc001qjn.2_Silent_p.S65S	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	adiponectin receptor 2	65	Cytoplasmic (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity				0	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			ATGAATACAGTGATGAAGCTC	0.438													C	1882031	T	C	1882031	2	2	27	1	0	0	0	0	0	0	0	1	319	1693	59	3		3	ADIPOR2	12	1882031	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	843041	1882031	131969864	5476	29427											
CACNA2D4	93589	broad.mit.edu	37	chr12	1983839	1983839	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctattgatcatggctgttctCagcttcaggaggaaagacaa	10	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:1983839C>T	uc001qjp.2	-	18	2040	c.1809G>A	c.(1807-1809)CTG>CTA	p.L603L	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	603	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGGCTGTTCTCAGCTTCAGGA	0.488													T	1983839	C	T	1983839	2	4	27	1	0	0	0	0	0	0	0	1	2551	813	29	4		4	CACNA2D4	12	1983839	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	101808	1983839	131868056	5477	29428											
DCP1B	196513	broad.mit.edu	37	chr12	2055377	2055377	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaaggccttgctgtcacaTagtctttttcatggctgctt	8	9	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:2055377T>C	uc001qjx.1	-	9	1929	c.1849A>G	c.(1849-1851)ATG>GTG	p.M617V	DCP1B_uc010sdy.1_Missense_Mutation_p.M515V	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	617					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TGCTGTCACATAGTCTTTTTC	0.388													C	2055377	T	C	2055377	3	2	27	1	0	0	0	0	1	0	0	0	4299	1406	49	3	8	3	DCP1B	12	2055377	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	71538	2055377	131796518	5478	29429											
DCP1B	196513	broad.mit.edu	37	chr12	2102471	2102471	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagggtcctggagttggAaatccaagtctttagtaata	12	5	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:2102471A>T	uc001qjx.1	-	3	358	c.278T>A	c.(277-279)TTC>TAC	p.F93Y	DCP1B_uc010sdy.1_5'UTR|DCP1B_uc010sdz.1_Missense_Mutation_p.F93Y	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	93					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			CTGGAGTTGGAAATCCAAGTC	0.398													T	2102471	A	T	2102471	3	4	27	1	0	0	0	0	1	0	0	0	4299	246	9	5	1603	5	DCP1B	12	2102471	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	47094	2102471	131749424	5479	29430											
CACNA1C	775	broad.mit.edu	37	chr12	2719827	2719827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcgagtacctgatgttcGtcctcatcctgctcaacacc	6	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:2719827G>A	uc009zdu.1	+	29	4052	c.3739G>A	c.(3739-3741)GTC>ATC	p.V1247I	CACNA1C_uc009zdv.1_Missense_Mutation_p.V1224I|CACNA1C_uc001qkb.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkc.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qke.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkf.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qjz.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkd.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkg.2_Missense_Mutation_p.V1227I|CACNA1C_uc009zdw.1_Missense_Mutation_p.V1227I|CACNA1C_uc001qkh.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkl.2_Missense_Mutation_p.V1247I|CACNA1C_uc001qkn.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qko.2_Missense_Mutation_p.V1247I|CACNA1C_uc001qkp.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkr.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qku.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkq.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qks.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkt.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qka.1_Missense_Mutation_p.V762I|CACNA1C_uc001qki.1_Missense_Mutation_p.V963I|CACNA1C_uc001qkj.1_Missense_Mutation_p.V963I|CACNA1C_uc001qkk.1_Missense_Mutation_p.V963I|CACNA1C_uc001qkm.1_Missense_Mutation_p.V963I	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1247	Helical; Name=S1 of repeat IV; (Potential).|IV.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCTGATGTTCGTCCTCATCCT	0.582													A	2719827	G	A	2719827	3	1	27	1	0	0	0	0	1	0	0	0	2540	1145	40	1	3961	1	CACNA1C	12	2719827	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	617356	2719827	131132068	5480	29431											
CACNA1C	775	broad.mit.edu	37	chr12	2774756	2774756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttccccacagatcatcaacCtctttgtagctgtcatcatg	6	13	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:2774756C>T	uc009zdu.1	+	38	4865	c.4552C>T	c.(4552-4554)CTC>TTC	p.L1518F	CACNA1C_uc009zdv.1_Missense_Mutation_p.L1467F|CACNA1C_uc001qkb.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qkc.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qke.2_Missense_Mutation_p.L1459F|CACNA1C_uc001qkf.2_Missense_Mutation_p.L1459F|CACNA1C_uc001qjz.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qkd.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qkg.2_Missense_Mutation_p.L1457F|CACNA1C_uc009zdw.1_Missense_Mutation_p.L1492F|CACNA1C_uc001qkh.2_Missense_Mutation_p.L1459F|CACNA1C_uc001qkl.2_Missense_Mutation_p.L1518F|CACNA1C_uc001qkn.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qko.2_Missense_Mutation_p.L1490F|CACNA1C_uc001qkp.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qkr.2_Missense_Mutation_p.L1487F|CACNA1C_uc001qku.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qkq.2_Missense_Mutation_p.L1498F|CACNA1C_uc001qks.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qkt.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qki.1_Missense_Mutation_p.L1206F|CACNA1C_uc001qkj.1_Missense_Mutation_p.L1206F|CACNA1C_uc001qkk.1_Missense_Mutation_p.L1206F|CACNA1C_uc001qkm.1_Missense_Mutation_p.L1195F|CACNA1C_uc010sea.1_Missense_Mutation_p.L161F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1518	Phenylalkylamine binding (By similarity).|Dihydropyridine binding (By similarity).|Helical; Name=S6 of repeat IV; (Potential).|IV.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GATCATCAACCTCTTTGTAGC	0.522													T	2774756	C	T	2774756	3	4	27	1	0	0	0	0	1	0	0	0	2540	681	24	4	4876	4	CACNA1C	12	2774756	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	54929	2774756	131077139	5481	29432											
TSPAN9	10867	broad.mit.edu	37	chr12	3388233	3388233	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttgtctacatggacaagGtaagccttaccagatgggag	11	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:3388233G>A	uc001qlp.2	+	5	477	c.330_splice	c.e5+1	p.K110_splice		NM_006675	NP_006666	O75954	TSN9_HUMAN	tetraspanin 9							integral to plasma membrane|membrane fraction				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			CATGGACAAGGTAAGCCTTAC	0.537													A	3388233	G	A	3388233	5	1	27	1	0	0	0	0	0	0	1	0	16651	1275	44	4	341	4	TSPAN9	12	3388233	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	613477	3388233	130463662	5482	29433											
PRMT8	56341	broad.mit.edu	37	chr12	3649793	3649794	+	Frame_Shift_Ins	INS	-	-	C													gaacagccccccctcccagcINSccccccagcccgtcgtccct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:3649792_3649793G>GC	uc001qmf.3	+	1	463_464	c.96_97G>GC	c.(94-99)cagcccfs	p.Q32fs	PRMT8_uc009zed.3_Frame_Shift_Ins_p.Q23fs|PRMT8_uc009zee.1_Non-coding_Transcript	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA.	32					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CCCCCTCCCAGCCCCCCCAGCC	0.644													C	3649794	-	C	3649793	7	5	27	1	0	1	1	0	0	0	0	0	12542	739	26	0	103	0	PRMT8	12	3649793	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	261560	3649793	130202102	5483	29434											
EFCAB4B	84766	broad.mit.edu	37	chr12	3768745	3768745	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaccttcaggagaaactgCtccttctcacttttgatttg	6	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:3768745C>T	uc001qmj.2	-	8	1319	c.747G>A	c.(745-747)GAG>GAA	p.E249E	EFCAB4B_uc010sen.1_Silent_p.E249E|EFCAB4B_uc010seo.1_Silent_p.E249E|EFCAB4B_uc001qmi.1_RNA	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B isoform c	249	Potential.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GGAGAAACTGCTCCTTCTCAC	0.269													T	3768745	C	T	3768745	2	4	27	1	0	0	0	0	0	0	0	1	4937	796	28	2		2	EFCAB4B	12	3768745	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	118952	3768745	130083150	5484	29435											
C12orf4	57102	broad.mit.edu	37	chr12	4599042	4599042	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcatgttactaagttgAtaaaacatttcttcagaaat	7	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:4599042A>T	uc001qms.2	-	14	1678	c.1590T>A	c.(1588-1590)TAT>TAA	p.Y530*	C12orf4_uc001qmt.2_Nonsense_Mutation_p.Y530*	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	hypothetical protein LOC57102	530											0			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TACTAAGTTGATAAAACATTT	0.299													T	4599042	A	T	4599042	4	4	27	1	0	0	0	0	0	1	0	0	1685	340	12	5	72	5	C12orf4	12	4599042	Nonsense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	830297	4599042	129252853	5485	29436											
RAD51AP1	10635	broad.mit.edu	37	chr12	4654960	4654960	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aattgcagactccctgaaggTacttttagtattccagctag	8	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:4654960T>A	uc001qmw.2	+	4	378	c.222T>A	c.(220-222)GGT>GGA	p.G74G	RAD51AP1_uc001qmu.2_Intron|RAD51AP1_uc001qmv.2_Silent_p.G20G|RAD51AP1_uc010sep.1_Intron|RAD51AP1_uc010seq.1_Intron	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	RAD51 associated protein 1 isoform a	74					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding				0			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			tccctgaaggtacttttagta	0.06													A	4654960	T	A	4654960	2	1	27	1	0	0	0	0	0	0	0	1	12986	1625	57	5		5	RAD51AP1	12	4654960	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	55918	4654960	129196935	5486	29437											
RAD51AP1	10635	broad.mit.edu	37	chr12	4657887	4657887	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtggaagatgatgttggTggtgttcaagggaaaagaaa	15	2	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:4657887T>C	uc001qmw.2	+	7	648	c.492T>C	c.(490-492)GGT>GGC	p.G164G	RAD51AP1_uc001qmu.2_Silent_p.G147G|RAD51AP1_uc001qmv.2_Silent_p.G110G|RAD51AP1_uc010sep.1_Silent_p.G29G|RAD51AP1_uc010seq.1_Silent_p.G29G|RAD51AP1_uc009zeg.2_5'Flank	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	RAD51 associated protein 1 isoform a	164					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding				0			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			ATGATGTTGGTGGTGTTCAAG	0.408													C	4657887	T	C	4657887	2	2	27	1	0	0	0	0	0	0	0	1	12986	1683	59	3		3	RAD51AP1	12	4657887	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2927	4657887	129194008	5487	29438											
AKAP3	10566	broad.mit.edu	37	chr12	4735822	4735822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgctgcacacccttcaGggggctgtcctgatgtgcct	14	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:4735822G>A	uc001qnb.3	-	4	2475	c.2246C>T	c.(2245-2247)CCT>CTT	p.P749L		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	749					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						ACACCCTTCAGGGGGCTGTCC	0.532													A	4735822	G	A	4735822	3	1	27	1	0	0	0	0	1	0	0	0	452	1000	35	4	323	4	AKAP3	12	4735822	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	77935	4735822	129116073	5488	29439											
KCNA6	3742	broad.mit.edu	37	chr12	4919490	4919490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaccggcccagcttcgacGccatcctctactactaccag	7	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:4919490G>A	uc001qng.2	+	1	1149	c.283G>A	c.(283-285)GCC>ACC	p.A95T		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	95						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						CAGCTTCGACGCCATCCTCTA	0.642										HNSCC(72;0.22)			A	4919490	G	A	4919490	3	1	27	1	0	0	0	0	1	0	0	0	8007	1087	38	1	285	1	KCNA6	12	4919490	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	183668	4919490	128932405	5489	29440											
KCNA6	3742	broad.mit.edu	37	chr12	4920490	4920490	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacggtaggttacggggacaTgtaccccatgactgtggggg	16	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:4920490T>C	uc001qng.2	+	1	2149	c.1283T>C	c.(1282-1284)ATG>ACG	p.M428T		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	428						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						TACGGGGACATGTACCCCATG	0.582										HNSCC(72;0.22)			C	4920490	T	C	4920490	3	2	27	1	0	0	0	0	1	0	0	0	8007	1464	51	3	1285	3	KCNA6	12	4920490	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1000	4920490	128931405	5490	29441											
KCNA1	3736	broad.mit.edu	37	chr12	5020846	5020846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactaccagtccggcggccGcctgcggaggccggtcaacg	14	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:5020846G>A	uc001qnh.2	+	2	1407	c.302G>A	c.(301-303)CGC>CAC	p.R101H		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	101					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCCGGCGGCCGCCTGCGGAGG	0.612													A	5020846	G	A	5020846	3	1	27	1	0	0	0	0	1	0	0	0	8001	1087	38	1	304	1	KCNA1	12	5020846	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	100356	5020846	128831049	5491	29442											
KCNA1	3736	broad.mit.edu	37	chr12	5021176	5021176	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcgacaacaccacggtcaTctacaattccaacatcttca	3	15	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:5021176T>C	uc001qnh.2	+	2	1737	c.632T>C	c.(631-633)ATC>ACC	p.I211T		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	211					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACCACGGTCATCTACAATTCC	0.552													C	5021176	T	C	5021176	3	2	27	1	0	0	0	0	1	0	0	0	8001	1435	50	3	634	3	KCNA1	12	5021176	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	330	5021176	128830719	5492	29443											
KCNA1	3736	broad.mit.edu	37	chr12	5021662	5021662	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgtccatgaccactgTaggatacggtgacatgtacc	13	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:5021662T>C	uc001qnh.2	+	2	2223	c.1118T>C	c.(1117-1119)GTA>GCA	p.V373A		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	373	Selectivity filter (By similarity).				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATGACCACTGTAGGATACGGT	0.547													C	5021662	T	C	5021662	3	2	27	1	0	0	0	0	1	0	0	0	8001	1638	57	3	1120	3	KCNA1	12	5021662	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	486	5021662	128830233	5493	29444											
KCNA5	3741	broad.mit.edu	37	chr12	5154130	5154130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctgcttggagaccctgCctgagttcagggatgaacgt	12	11	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:5154130C>T	uc001qni.2	+	1	1046	c.817C>T	c.(817-819)CCT>TCT	p.P273S		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	273						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						GGAGACCCTGCCTGAGTTCAG	0.672													T	5154130	C	T	5154130	3	4	27	1	0	0	0	0	1	0	0	0	8006	739	26	2	819	2	KCNA5	12	5154130	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	132468	5154130	128697765	5494	29445											
KCNA5	3741	broad.mit.edu	37	chr12	5154984	5154984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtccagcggaaggtcagCgggagcaggggatccttctg	18	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:5154984C>T	uc001qni.2	+	1	1900	c.1671C>T	c.(1669-1671)AGC>AGT	p.S557S		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	557						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						GGAAGGTCAGCGGGAGCAGGG	0.642													T	5154984	C	T	5154984	2	4	27	1	0	0	0	0	0	0	0	1	8006	767	27	1		1	KCNA5	12	5154984	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	854	5154984	128696911	5495	29446											
ANO2	57101	broad.mit.edu	37	chr12	5744509	5744509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacgattgagaatgtcaggGcaatctgtttgggaaaacag	13	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:5744509G>A	uc001qnm.2	-	17	1697	c.1625C>T	c.(1624-1626)GCC>GTC	p.A542V		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	547	Helical; (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						GAATGTCAGGGCAATCTGTTT	0.463													A	5744509	G	A	5744509	3	1	27	1	0	0	0	0	1	0	0	0	697	1203	42	2	1411	2	ANO2	12	5744509	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	589525	5744509	128107386	5496	29447											
CD9	928	broad.mit.edu	37	chr12	6344710	6344710	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctgccccaagaaggacgtActcgaaaccttcaccgtgaa	8	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:6344710A>G	uc001qnp.1	+	7	960	c.516A>G	c.(514-516)GTA>GTG	p.V172V	CD9_uc010sev.1_Missense_Mutation_p.T222A|CD9_uc001qnq.1_Silent_p.V172V	NM_001769	NP_001760	P21926	CD9_HUMAN	CD9 antigen	172	Extracellular (Potential).				cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				ovary(1)	1						AGAAGGACGTACTCGAAACCT	0.547													G	6344710	A	G	6344710	2	3	27	1	0	0	0	0	0	0	0	1	3046	378	14	3		3	CD9	12	6344710	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	600201	6344710	127507185	5497	29448											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6438737	6438737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcacgaattccttccagCgcaacgggggcacgttctcc	11	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:6438737C>T	uc001qnu.2	-	10	1390	c.1109G>A	c.(1108-1110)CGC>CAC	p.R370H	TNFRSF1A_uc001qnt.2_Missense_Mutation_p.R262H|TNFRSF1A_uc010sey.1_Missense_Mutation_p.R138H|TNFRSF1A_uc010sez.1_Missense_Mutation_p.R262H|TNFRSF1A_uc009zek.2_Missense_Mutation_p.R327H	NM_001065	NP_001056	P19438	TNR1A_HUMAN	tumor necrosis factor receptor 1 precursor	370	Death.|Cytoplasmic (Potential).				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			lung(2)|skin(1)	3						TTCCTTCCAGCGCAACGGGGG	0.706													T	6438737	C	T	6438737	3	4	27	1	0	0	0	0	1	0	0	0	16290	768	27	1	262	1	TNFRSF1A	12	6438737	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	94027	6438737	127413158	5498	29449											
VAMP1	6843	broad.mit.edu	37	chr12	6574081	6574081	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataactaccacgatgatggcAcagatggctcccagcatgat	9	11	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:6574081A>G	uc001qok.2	-	4	461	c.315T>C	c.(313-315)TGT>TGC	p.C105C	TAPBPL_uc001qoi.1_Intron|VAMP1_uc001qoj.2_Silent_p.C105C|VAMP1_uc001qol.2_Silent_p.C105C	NM_014231	NP_055046	P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 isoform 1	105	Helical; Anchor for type IV membrane protein; (Potential).				neurotransmitter secretion|vesicle-mediated transport	cell junction|endocytic vesicle membrane|integral to plasma membrane|mitochondrial outer membrane|synaptic vesicle membrane|synaptosome	protein binding				0					Botulinum Toxin Type B(DB00042)	CGATGATGGCACAGATGGCTC	0.433													G	6574081	A	G	6574081	2	3	27	1	0	0	0	0	0	0	0	1	17109	157	6	3		3	VAMP1	12	6574081	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	135344	6574081	127277814	5499	29450											
NCAPD2	9918	broad.mit.edu	37	chr12	6639009	6639009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcacagagcgaggcctccGtaagatgcttgacaattttg	10	11	1	3	rs145700246	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:6639009G>A	uc001qoo.2	+	29	3768	c.3722G>A	c.(3721-3723)CGT>CAT	p.R1241H	NCAPD2_uc010sfd.1_Missense_Mutation_p.R1196H	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1241					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						CGAGGCCTCCGTAAGATGCTT	0.532													A	6639009	G	A	6639009	3	1	27	1	0	0	0	0	1	0	0	0	10205	1145	40	1	3832	1	NCAPD2	12	6639009	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	64928	6639009	127212886	5500	29451											
IFFO1	25900	broad.mit.edu	37	chr12	6664471	6664471	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactttggccagcacgttgTagagagcgcggatctcgggc	14	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:6664471T>C	uc001qpd.1	-	1	759	c.725A>G	c.(724-726)TAC>TGC	p.Y242C	IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Missense_Mutation_p.Y242C|IFFO1_uc001qpf.1_Missense_Mutation_p.Y242C|IFFO1_uc001qpc.1_Missense_Mutation_p.Y242C	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan isoform 2	242	Potential.					intermediate filament					0						CAGCACGTTGTAGAGAGCGCG	0.622													C	6664471	T	C	6664471	3	2	27	1	0	0	0	0	1	0	0	0	7510	1638	57	3	1006	3	IFFO1	12	6664471	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	25462	6664471	127187424	5501	29452											
CHD4	1108	broad.mit.edu	37	chr12	6680085	6680085	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccaggcggctgagaatgtTacgctctgacatctgtaacc	11	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:6680085T>C	uc001qpo.2	-	39	5835	c.5671A>G	c.(5671-5673)AAC>GAC	p.N1891D	CHD4_uc001qpn.2_Missense_Mutation_p.N1884D|CHD4_uc001qpp.2_Missense_Mutation_p.N1916D|NOP2_uc001qph.1_5'Flank|NOP2_uc001qpi.1_5'Flank|NOP2_uc001qpj.1_5'Flank|NOP2_uc001qpk.1_5'Flank|NOP2_uc001qpl.1_5'Flank|NOP2_uc001qpm.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1891	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CTGAGAATGTTACGCTCTGAC	0.537													C	6680085	T	C	6680085	3	2	27	1	0	0	0	0	1	0	0	0	3327	1754	61	3	75	3	CHD4	12	6680085	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	15614	6680085	127171810	5502	29453											
CHD4	1108	broad.mit.edu	37	chr12	6692213	6692213	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctgaacgttcatcaaagTcttcatcaccttcctctgaa	4	13	7	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:6692213T>C	uc001qpo.2	-	27	4291	c.4127A>G	c.(4126-4128)GAC>GGC	p.D1376G	CHD4_uc001qpn.2_Missense_Mutation_p.D1369G|CHD4_uc001qpp.2_Missense_Mutation_p.D1401G|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1376					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTCATCAAAGTCTTCATCACC	0.473													C	6692213	T	C	6692213	3	2	27	1	0	0	0	0	1	0	0	0	3327	1667	58	3	1667	3	CHD4	12	6692213	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	12128	6692213	127159682	5503	29454											
CHD4	1108	broad.mit.edu	37	chr12	6696652	6696652	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtctcatcctggttacgGtctagcagccgttcaatggc	10	12	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:6696652G>A	uc001qpo.2	-	25	3941	c.3777C>T	c.(3775-3777)GAC>GAT	p.D1259D	CHD4_uc001qpn.2_Silent_p.D1252D|CHD4_uc001qpp.2_Silent_p.D1256D	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1259					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCTGGTTACGGTCTAGCAGCC	0.458													A	6696652	G	A	6696652	2	1	27	1	0	0	0	0	0	0	0	1	3327	1252	44	4		4	CHD4	12	6696652	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4439	6696652	127155243	5504	29455											
CD4	920	broad.mit.edu	37	chr12	6924043	6924043	+	Frame_Shift_Del	DEL	G	G	-													ccaaggggtaaaaacatacaGggggggaagaccctctccgt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:6924042_6924042AG>A	uc001qqv.2	+	4	749	c.491_491AG>A	c.(490-492)cagfs	p.Q164fs	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Frame_Shift_Del_p.Q109fs|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	164	Ig-like C2-type 1.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAG	0.562													-	6924043	G	-	6924043	7	5	27	1	0	1	0	1	0	0	0	0	3014	991	35	0	506	0	CD4	12	6924043	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	227391	6924043	126927852	5505	29456											
CD4	920	broad.mit.edu	37	chr12	6928489	6928489	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcagaagacatgtagcccCatttgaggcacgaggccagg	12	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:6928489C>A	uc001qqv.1	+	10	1616	c.1371C>A	c.(1369-1371)CCC>CCA	p.P457P	CD4_uc010sfj.1_Silent_p.P184P|CD4_uc009zfc.1_Silent_p.P278P|CD4_uc010sfk.1_Silent_p.P184P|CD4_uc010sfl.1_Silent_p.P184P|CD4_uc010sfm.1_Silent_p.P184P|GPR162_uc010sfn.1_5'Flank|GPR162_uc001qqw.1_5'Flank|GPR162_uc001qqx.1_5'Flank|GPR162_uc009zfd.1_5'Flank	NM_000616	NP_000607	P01730	CD4_HUMAN	CD4 antigen precursor	457	Cytoplasmic (Potential).			Missing: Abolished interaction with SPG21 and induced T-cell activation.	cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)				CATGTAGCCCCATTTGAGGCA	0.592													A	6928489	C	A	6928489	2	1	27	1	0	0	0	0	0	0	0	1	3014	581	21	5		5	CD4	12	6928489	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4446	6928489	126923406	5506	29457											
SPSB2	84727	broad.mit.edu	37	chr12	6981914	6981914	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatgttctctgaacagtctTtggggttccaaccgtggcgc	12	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:6981914T>C	uc001qrl.2	-	2	308	c.152A>G	c.(151-153)AAA>AGA	p.K51R	SPSB2_uc001qrm.2_Missense_Mutation_p.K51R|SPSB2_uc010sfp.1_Missense_Mutation_p.K51R|LRRC23_uc001qrn.1_5'Flank	NM_001146316	NP_001139788	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box	51	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(1)	1						TGAACAGTCTTTGGGGTTCCA	0.642											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	6981914	T	C	6981914	3	2	27	1	0	0	0	0	1	0	0	0	15112	1841	64	3	647	3	SPSB2	12	6981914	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	53425	6981914	126869981	5507	29458											
LRRC23	10233	broad.mit.edu	37	chr12	7015022	7015022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcagtggctgcccacccCcctcacggaggacatgatga	11	16	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:7015022C>T	uc001qrt.3	+	3	532	c.140C>T	c.(139-141)CCC>CTC	p.P47L	LRRC23_uc001qrn.1_Missense_Mutation_p.P47L|LRRC23_uc009zfg.2_Intron|LRRC23_uc001qrp.2_Missense_Mutation_p.P47L|LRRC23_uc001qrq.2_Missense_Mutation_p.P47L|LRRC23_uc001qrr.2_Intron|LRRC23_uc001qrs.2_Intron|LRRC23_uc009zfh.2_Missense_Mutation_p.P47L	NM_001135217	NP_001128689	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23 isoform a	47										ovary(1)	1						CTGCCCACCCCCCTCACGGAG	0.572													T	7015022	C	T	7015022	3	4	27	1	0	0	0	0	1	0	0	0	8978	623	22	4	146	4	LRRC23	12	7015022	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	33108	7015022	126836873	5508	29459											
ATN1	1822	broad.mit.edu	37	chr12	7043403	7043403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagaactgagatcgagggGccgggcctcccctggagggg	19	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:7043403G>A	uc001qrw.1	+	3	329	c.92G>A	c.(91-93)GGC>GAC	p.G31D	ATN1_uc001qrx.1_Missense_Mutation_p.G31D|ATN1_uc001qry.1_Missense_Mutation_p.G31D	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	31	Nuclear localization signal.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						AGATCGAGGGGCCGGGCCTCC	0.592													A	7043403	G	A	7043403	3	1	27	1	0	0	0	0	1	0	0	0	1111	1203	42	2	98	2	ATN1	12	7043403	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	28381	7043403	126808492	5509	29460											
ATN1	1822	broad.mit.edu	37	chr12	7046281	7046281	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcggctaccctttccacggtCattgccaccgtggcttcctc	8	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:7046281C>T	uc001qrw.1	+	5	2088	c.1851C>T	c.(1849-1851)GTC>GTT	p.V617V	ATN1_uc001qrx.1_Silent_p.V617V	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	617					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						TTTCCACGGTCATTGCCACCG	0.662													T	7046281	C	T	7046281	2	4	27	1	0	0	0	0	0	0	0	1	1111	813	29	4		4	ATN1	12	7046281	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2878	7046281	126805614	5510	29461											
ATN1	1822	broad.mit.edu	37	chr12	7047957	7047957	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgaacgagacctccgtgAccgcctcaagcctggctttg	11	15	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:7047957A>G	uc001qrw.1	+	7	3068	c.2831A>G	c.(2830-2832)GAC>GGC	p.D944G	ATN1_uc001qrx.1_Missense_Mutation_p.D944G	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	944					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						GACCTCCGTGACCGCCTCAAG	0.652													G	7047957	A	G	7047957	3	3	27	1	0	0	0	0	1	0	0	0	1111	275	10	3	2853	3	ATN1	12	7047957	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1676	7047957	126803938	5511	29462											
PHB2	11331	broad.mit.edu	37	chr12	7079581	7079581	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcggaggttgctcaccGgtgaacacagattcgcgcac	14	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:7079581G>A	uc001qsd.2	-	1	336	c.126C>T	c.(124-126)ACC>ACT	p.T42T	PHB2_uc010sft.1_Silent_p.T42T|PHB2_uc010sfu.1_Silent_p.T42T|EMG1_uc009zfo.2_5'Flank|EMG1_uc001qsh.3_5'Flank|EMG1_uc010sfv.1_5'Flank	NM_001144831	NP_001138303	Q99623	PHB2_HUMAN	prohibitin 2 isoform 1	42	Necessary for transcriptional repression.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						GTTGCTCACCGGTGAACACAG	0.721													A	7079581	G	A	7079581	2	1	27	1	0	0	0	0	0	0	0	1	11815	1130	39	1		1	PHB2	12	7079581	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	31624	7079581	126772314	5512	29463											
LPCAT3	10162	broad.mit.edu	37	chr12	7087608	7087608	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttggcacaggcatcccacTttgccttgcccttttcttca	7	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:7087608T>G	uc001qsi.2	-	9	1049	c.935A>C	c.(934-936)AAG>ACG	p.K312T	EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.1_Missense_Mutation_p.K206T|LPCAT3_uc009zfp.2_RNA|LPCAT3_uc010sfx.1_RNA|LPCAT3_uc009zfq.1_Missense_Mutation_p.K170T	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	312					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			ovary(1)	1						GGCATCCCACTTTGCCTTGCC	0.527													G	7087608	T	G	7087608	3	3	27	1	0	0	0	0	1	0	0	0	8912	1609	56	5	544	5	LPCAT3	12	7087608	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	8027	7087608	126764287	5513	29464											
CLSTN3	9746	broad.mit.edu	37	chr12	7289485	7289485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaatgccaactggacagCaggactctcggtgcactaca	9	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:7289485C>T	uc001qsr.2	+	7	1267	c.989C>T	c.(988-990)GCA>GTA	p.A330V	CLSTN3_uc001qss.2_Missense_Mutation_p.A342V	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	330	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						AACTGGACAGCAGGACTCTCG	0.637													T	7289485	C	T	7289485	3	4	27	1	0	0	0	0	1	0	0	0	3563	710	25	2	1015	2	CLSTN3	12	7289485	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	201877	7289485	126562410	5514	29465											
CLSTN3	9746	broad.mit.edu	37	chr12	7290632	7290632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctgcttgagagtgcccGcccagtcaagttcctctgga	11	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:7290632G>A	uc001qsr.2	+	8	1570	c.1292G>A	c.(1291-1293)CGC>CAC	p.R431H	CLSTN3_uc001qss.2_Missense_Mutation_p.R443H	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	431	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						GAGAGTGCCCGCCCAGTCAAG	0.582													A	7290632	G	A	7290632	3	1	27	1	0	0	0	0	1	0	0	0	3563	1087	38	1	1322	1	CLSTN3	12	7290632	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1147	7290632	126561263	5515	29466											
CLSTN3	9746	broad.mit.edu	37	chr12	7295559	7295559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgcgaggtcatcgagtgCctctatgcatgtcgggaggg	16	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:7295559C>T	uc001qsr.2	+	11	1913	c.1635C>T	c.(1633-1635)TGC>TGT	p.C545C	CLSTN3_uc001qss.2_Silent_p.C557C	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	545	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						TCATCGAGTGCCTCTATGCAT	0.582													T	7295559	C	T	7295559	2	4	27	1	0	0	0	0	0	0	0	1	3563	747	26	2		2	CLSTN3	12	7295559	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4927	7295559	126556336	5516	29467											
PEX5	5830	broad.mit.edu	37	chr12	7361760	7361760	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagctgccctcagcgttcgTcccaatgtgagcccagggga	12	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:7361760T>C	uc009zfu.1	+	15	2134	c.1554T>C	c.(1552-1554)CGT>CGC	p.R518R	PEX5_uc001qsw.2_Silent_p.R518R|PEX5_uc010sgc.1_Silent_p.R533R|PEX5_uc001qsu.2_Silent_p.R481R|PEX5_uc010sgd.1_Silent_p.R539R|PEX5_uc001qsv.2_Silent_p.R510R	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5 isoform d	518	TPR 5.				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			ovary(1)	1						TCAGCGTTCGTCCCAATGTGA	0.463													C	7361760	T	C	7361760	2	2	27	1	0	0	0	0	0	0	0	1	11748	1654	58	3		3	PEX5	12	7361760	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	66201	7361760	126490135	5517	29468											
CD163L1	283316	broad.mit.edu	37	chr12	7585081	7585081	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccatccacgatgtctgcaatTccagagtgccaactcattcc	6	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:7585081T>A	uc001qsy.2	-	4	723	c.697A>T	c.(697-699)AAT>TAT	p.N233Y	CD163L1_uc010sge.1_Missense_Mutation_p.N243Y	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	233	SRCR 2.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						TGTCTGCAATTCCAGAGTGCC	0.428													A	7585081	T	A	7585081	3	1	27	1	0	0	0	0	1	0	0	0	2968	1783	62	5	3728	5	CD163L1	12	7585081	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	223321	7585081	126266814	5518	29469											
CD163	9332	broad.mit.edu	37	chr12	7651537	7651537	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccttgatgtttgcagttccaGagagctgactcatttccgtt	9	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:7651537G>T	uc001qsz.3	-	4	833	c.705C>A	c.(703-705)CTC>CTA	p.L235L	CD163_uc001qta.3_Silent_p.L235L|CD163_uc009zfw.2_Silent_p.L235L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	235	SRCR 2.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						TGCAGTTCCAGAGAGCTGACT	0.438													T	7651537	G	T	7651537	2	4	27	1	0	0	0	0	0	0	0	1	2967	929	33	5		5	CD163	12	7651537	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	66456	7651537	126200358	5519	29470											
CD163	9332	broad.mit.edu	37	chr12	7653746	7653746	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtcttacctgagcaggtcActccagcatcttgttggtga	10	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:7653746A>G	uc001qsz.3	-	3	574	c.446T>C	c.(445-447)GTG>GCG	p.V149A	CD163_uc001qta.3_Missense_Mutation_p.V149A|CD163_uc009zfw.2_Missense_Mutation_p.V149A	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	149	SRCR 1.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						TGAGCAGGTCACTCCAGCATC	0.418													G	7653746	A	G	7653746	3	3	27	1	0	0	0	0	1	0	0	0	2967	159	6	3	3080	3	CD163	12	7653746	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2209	7653746	126198149	5520	29471											
APOBEC1	339	broad.mit.edu	37	chr12	7805322	7805322	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtttttgcctgagcttcGccagatcttccggctcatgc	11	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:7805322G>A	uc001qtb.2	-	3	188	c.154C>T	c.(154-156)CGA>TGA	p.R52*	APOBEC1_uc001qtc.2_Nonsense_Mutation_p.R7*|APOBEC1_uc010sgf.1_Nonsense_Mutation_p.R52*	NM_001644	NP_001635	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme	52					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding				0						CCTGAGCTTCGCCAGATCTTC	0.463													A	7805322	G	A	7805322	4	1	27	1	0	0	0	0	0	1	0	0	787	1095	38	1	568	1	APOBEC1	12	7805322	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	151576	7805322	126046573	5521	29472											
SLC2A3	6515	broad.mit.edu	37	chr12	8083940	8083940	+	Frame_Shift_Del	DEL	A	A	-													tctccaatgtacatgggcacAaaacctgtgcagagtccgca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:8083939_8083939CA>C	uc001qtr.3	-	3	674	c.412_412TG>G	c.(412-414)gtgfs	p.V138fs		NM_006931	NP_008862	P11169	GTR3_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.	138					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TACATGGGCACAAAACCTGTG	0.537													-	8083940	A	-	8083940	7	5	27	1	0	1	0	1	0	0	0	0	14545	127	5	0	1107	0	SLC2A3	12	8083940	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	278618	8083940	125767955	5522	29473											
FOXJ2	55810	broad.mit.edu	37	chr12	8203211	8203211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactcagcaggatacaatcGcccaggtaagagctaagaag	12	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:8203211G>A	uc001qtu.2	+	10	2716	c.1631G>A	c.(1630-1632)CGC>CAC	p.R544H		NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	544					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				Kidney(36;0.0944)		GGATACAATCGCCCAGGTAAG	0.502													A	8203211	G	A	8203211	3	1	27	1	0	0	0	0	1	0	0	0	6012	1087	38	1	1665	1	FOXJ2	12	8203211	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	119271	8203211	125648684	5523	29474											
C3AR1	719	broad.mit.edu	37	chr12	8212130	8212130	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaaggatgatcatttgTttggaaagaggaaggatcta	12	4	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:8212130T>C	uc001qtv.1	-	2	744	c.652A>G	c.(652-654)ACA>GCA	p.T218A		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	218	Extracellular (Potential).				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)	1				Kidney(36;0.0893)		TGATCATTTGTTTGGAAAGAG	0.433													C	8212130	T	C	8212130	3	2	27	1	0	0	0	0	1	0	0	0	2205	1725	60	3	800	3	C3AR1	12	8212130	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	8919	8212130	125639765	5524	29475											
RIMKLB	57494	broad.mit.edu	37	chr12	8866566	8866566	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcattgaaggccaaatgttGtgaggaggaactggacttta	13	5	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:8866566G>T	uc001quu.2	+	2	355	c.104G>T	c.(103-105)TGT>TTT	p.C35F	RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Missense_Mutation_p.C35F|RIMKLB_uc010sgl.1_Missense_Mutation_p.C35F|RIMKLB_uc001quw.2_Missense_Mutation_p.C35F	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family	35					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						GCCAAATGTTGTGAGGAGGAA	0.458													T	8866566	G	T	8866566	3	4	27	1	0	0	0	0	1	0	0	0	13366	1377	48	5	106	5	RIMKLB	12	8866566	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	654436	8866566	124985329	5525	29476											
A2ML1	144568	broad.mit.edu	37	chr12	8990998	8990998	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgacctcattggatatgcgTacagccatcaaatcaatatt	6	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:8990998T>C	uc001quz.3	+	9	1020	c.922T>C	c.(922-924)TAC>CAC	p.Y308H		NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	152						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						TGGATATGCGTACAGCCATCA	0.463													C	8990998	T	C	8990998	3	2	27	1	0	0	0	0	1	0	0	0	5	1638	57	3	956	3	A2ML1	12	8990998	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	124432	8990998	124860897	5526	29477											
A2ML1	144568	broad.mit.edu	37	chr12	9004515	9004515	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctaactgctttcaagccgttCtttgttgacctgactctccc	6	14	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:9004515C>T	uc001quz.3	+	19	2468	c.2370C>T	c.(2368-2370)TTC>TTT	p.F790F	A2ML1_uc001qva.1_Silent_p.F370F|A2ML1_uc010sgm.1_Silent_p.F290F	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	634						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						TCAAGCCGTTCTTTGTTGACC	0.507													T	9004515	C	T	9004515	2	4	27	1	0	0	0	0	0	0	0	1	5	912	32	4		4	A2ML1	12	9004515	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	13517	9004515	124847380	5527	29478											
PHC1	1911	broad.mit.edu	37	chr12	9089499	9089499	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtgcgagtactgtgggaagTacgcccccgcagagcagttt	14	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:9089499T>A	uc001qvd.2	+	12	2572	c.2416T>A	c.(2416-2418)TAC>AAC	p.Y806N	PHC1_uc001qve.2_Missense_Mutation_p.Y806N	NM_004426	NP_004417	P78364	PHC1_HUMAN	polyhomeotic 1-like	806	FCS-type.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|breast(1)	2						CTGTGGGAAGTACGCCCCCGC	0.532													A	9089499	T	A	9089499	3	1	27	1	0	0	0	0	1	0	0	0	11816	1638	57	5	2458	5	PHC1	12	9089499	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	84984	9089499	124762396	5528	29479											
A2M	2	broad.mit.edu	37	chr12	9221379	9221379	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcactatggctggtttcagAtctcttactgggacatcttg	9	9	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:9221379A>T	uc001qvk.1	-	34	4436	c.4323T>A	c.(4321-4323)GAT>GAA	p.D1441E	A2M_uc001qvj.1_Missense_Mutation_p.D483E|A2M_uc009zgk.1_Missense_Mutation_p.D1291E	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1441					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	CTGGTTTCAGATCTCTTACTG	0.403													T	9221379	A	T	9221379	3	4	27	1	0	0	0	0	1	0	0	0	4	330	12	5	113	5	A2M	12	9221379	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	131880	9221379	124630516	5529	29480											
A2M	2	broad.mit.edu	37	chr12	9262545	9262545	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtaggagccctggaagggCtctgatgagaggggaaaaga	17	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:9262545C>A	uc001qvk.1	-	6	704	c.591G>T	c.(589-591)GAG>GAT	p.E197D	A2M_uc009zgk.1_Missense_Mutation_p.E47D	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	197					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	CCTGGAAGGGCTCTGATGAGA	0.473													A	9262545	C	A	9262545	3	1	27	1	0	0	0	0	1	0	0	0	4	796	28	5	3957	5	A2M	12	9262545	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	41166	9262545	124589350	5530	29481											
PZP	5858	broad.mit.edu	37	chr12	9316284	9316284	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccaccaacagggttttgaTgactgtgtcttttcttttaa	7	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:9316284T>C	uc001qvl.2	-	21	2745	c.2716A>G	c.(2716-2718)ATC>GTC	p.I906V	PZP_uc009zgl.2_Intron|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Intron	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						AGGGTTTTGATGACTGTGTCT	0.438													C	9316284	T	C	9316284	3	2	27	1	0	0	0	0	1	0	0	0	12869	1464	51	3	1796	3	PZP	12	9316284	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	53739	9316284	124535611	5531	29482											
CLEC12B	387837	broad.mit.edu	37	chr12	10163385	10163385	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagtgacctacgcgacActcacatttcaggattctgc	9	11	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:10163385A>G	uc001qwz.2	+	1	155	c.27A>G	c.(25-27)ACA>ACG	p.T9T	CLEC12B_uc001qww.1_Silent_p.T9T|CLEC12B_uc001qwx.1_Silent_p.T9T|CLEC12B_uc001qwy.1_5'UTR|CLEC12B_uc009zhe.2_RNA	NM_001129998	NP_001123470	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B isoform	9	Cytoplasmic (Potential).|ITIM motif.					integral to membrane|plasma membrane	receptor activity|sugar binding				0						CCTACGCGACACTCACATTTC	0.413													G	10163385	A	G	10163385	2	3	27	1	0	0	0	0	0	0	0	1	3498	146	6	3		3	CLEC12B	12	10163385	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	847101	10163385	123688510	5532	29483											
CLEC9A	283420	broad.mit.edu	37	chr12	10213735	10213735	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcatgtgaagtgttgcaggTgtccaccattgcgatgcagc	12	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:10213735T>C	uc001qxa.2	+	6	795	c.182T>C	c.(181-183)GTG>GCG	p.V61A		NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	61	Extracellular (Potential).				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			ovary(1)	1						GTGTTGCAGGTGTCCACCATT	0.388													C	10213735	T	C	10213735	3	2	27	1	0	0	0	0	1	0	0	0	3522	1696	59	3	192	3	CLEC9A	12	10213735	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	50350	10213735	123638160	5533	29484											
CLEC7A	64581	broad.mit.edu	37	chr12	10278009	10278009	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagataacagctcttctcatAtataatccaattaggaggac	6	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:10278009A>G	uc001qxg.2	-	4	566	c.379T>C	c.(379-381)TAT>CAT	p.Y127H	CLEC7A_uc001qxe.3_RNA|CLEC7A_uc001qxf.2_Missense_Mutation_p.Y81H|CLEC7A_uc001qxh.2_Missense_Mutation_p.Y81H|CLEC7A_uc001qxi.2_Missense_Mutation_p.Y127H|CLEC7A_uc001qxj.2_Missense_Mutation_p.Y48H|CLEC7A_uc009zhg.1_Intron|CLEC7A_uc001qxk.1_RNA|CLEC7A_uc001qxl.1_Missense_Mutation_p.Y127H|CLEC7A_uc010sgy.1_Missense_Mutation_p.Y81H|CLEC7A_uc001qxm.1_Missense_Mutation_p.Y81H	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN	dendritic cell-associated C-type lectin 1	127	C-type lectin.|Extracellular (Potential).				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)	1						CTCTTCTCATATATAATCCAA	0.393													G	10278009	A	G	10278009	3	3	27	1	0	0	0	0	1	0	0	0	3521	449	16	3	376	3	CLEC7A	12	10278009	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	64274	10278009	123573886	5534	29485											
KLRC4	8302	broad.mit.edu	37	chr12	10561587	10561587	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctaggacctcagcagtgagCttctctggaggtggcagtaa	13	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:10561587C>T	uc001qye.2	-	2	392	c.210G>A	c.(208-210)AAG>AAA	p.K70K	KLRK1_uc001qyc.2_5'Flank|KLRK1_uc009zhk.2_5'UTR|KLRK1_uc001qyd.2_5'UTR	NM_013431	NP_038459	O43908	NKG2F_HUMAN	killer cell lectin-like receptor subfamily C,	70	Cytoplasmic (Potential).				cellular defense response	integral to membrane	binding|receptor activity				0						CAGCAGTGAGCTTCTCTGGAG	0.433													T	10561587	C	T	10561587	2	4	27	1	0	0	0	0	0	0	0	1	8418	796	28	2		2	KLRC4	12	10561587	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	283578	10561587	123290308	5535	29486											
STYK1	55359	broad.mit.edu	37	chr12	10777265	10777265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtacacatctgctctgatgCtagcaggtctcaggagaagc	11	11	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:10777265C>T	uc001qys.2	-	8	1432	c.911G>A	c.(910-912)AGC>AAC	p.S304N		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	304	Protein kinase.			S -> R (in Ref. 1; AAK34949 and 2; AAT01226).		integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						TGCTCTGATGCTAGCAGGTCT	0.483										HNSCC(73;0.22)			T	10777265	C	T	10777265	3	4	27	1	0	0	0	0	1	0	0	0	15358	797	28	2	373	2	STYK1	12	10777265	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	215678	10777265	123074630	5536	29487											
TAS2R13	50838	broad.mit.edu	37	chr12	11061110	11061110	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatcgtctcacaaagcatgTagatcactgtgttctgatac	7	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:11061110T>C	uc001qzg.1	-	1	1052	c.788A>G	c.(787-789)TAC>TGC	p.Y263C	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	263	Helical; Name=7; (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|skin(1)	2						ACAAAGCATGTAGATCACTGT	0.398													C	11061110	T	C	11061110	3	2	27	1	0	0	0	0	1	0	0	0	15564	1638	57	3	127	3	TAS2R13	12	11061110	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	283845	11061110	122790785	5537	29488											
ETV6	2120	broad.mit.edu	37	chr12	12022490	12022490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcctgaccccgagcagcGgcccctccggtcccccctgg	10	21	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:12022490G>A	uc001qzz.2	+	5	870	c.596G>A	c.(595-597)CGG>CAG	p.R199Q	ETV6_uc001raa.1_5'UTR	NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6	199						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/NTRK3(234)|ETV6/JAK2(11)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCCGAGCAGCGGCCCCTCCGG	0.627			T	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5	congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL								A	12022490	G	A	12022490	3	1	27	1	0	0	0	0	1	0	0	0	5283	1116	39	1	614	1	ETV6	12	12022490	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	961380	12022490	121829405	5538	29489											
GPRC5D	55507	broad.mit.edu	37	chr12	13095228	13095228	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagtaccatatgaagttaaTgctacatcctcctcagctcc	7	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:13095228T>C	uc010shp.1	-	2	930	c.930A>G	c.(928-930)GCA>GCG	p.A310A		NM_018654	NP_061124	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, family C, group 5,	310	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		ATGAAGTTAATGCTACATCCT	0.507													C	13095228	T	C	13095228	2	2	27	1	0	0	0	0	0	0	0	1	6727	1451	51	3		3	GPRC5D	12	13095228	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1072738	13095228	120756667	5539	29490											
GRIN2B	2904	broad.mit.edu	37	chr12	13716607	13716607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggtaccccgctgaccaCgccgtgtttgtcgcccgtcc	11	17	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:13716607C>T	uc001rbt.2	-	13	3744	c.3565G>A	c.(3565-3567)GTG>ATG	p.V1189M		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1189	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCGCTGACCACGCCGTGTTTG	0.627													T	13716607	C	T	13716607	3	4	27	1	0	0	0	0	1	0	0	0	6780	536	19	1	893	1	GRIN2B	12	13716607	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	621379	13716607	120135288	5540	29491											
GRIN2B	2904	broad.mit.edu	37	chr12	13768096	13768096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgctgcgtgacaccatgaCactgatgcctgtctctatga	9	11	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:13768096C>T	uc001rbt.2	-	7	1785	c.1606G>A	c.(1606-1608)GTC>ATC	p.V536I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	536	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GACACCATGACACTGATGCCT	0.522													T	13768096	C	T	13768096	3	4	27	1	0	0	0	0	1	0	0	0	6780	478	17	4	2876	4	GRIN2B	12	13768096	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	51489	13768096	120083799	5541	29492											
ATF7IP	55729	broad.mit.edu	37	chr12	14577340	14577340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcccacctctagcgagcCctcctctagtgatgctgcct	8	16	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:14577340C>T	uc001rbw.2	+	2	649	c.491C>T	c.(490-492)CCC>CTC	p.P164L	ATF7IP_uc010shs.1_Missense_Mutation_p.P164L|ATF7IP_uc001rbu.2_Missense_Mutation_p.P164L|ATF7IP_uc001rbv.1_Missense_Mutation_p.P164L|ATF7IP_uc001rbx.2_Missense_Mutation_p.P164L|ATF7IP_uc010sht.1_Missense_Mutation_p.P164L|ATF7IP_uc001rby.3_Missense_Mutation_p.P164L|ATF7IP_uc001rbz.1_Missense_Mutation_p.P164L|ATF7IP_uc001rca.2_Missense_Mutation_p.P164L|ATF7IP_uc001rcb.2_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	164					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						TCTAGCGAGCCCTCCTCTAGT	0.592													T	14577340	C	T	14577340	3	4	27	1	0	0	0	0	1	0	0	0	1087	623	22	4	493	4	ATF7IP	12	14577340	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	809244	14577340	119274555	5542	29493											
ATF7IP	55729	broad.mit.edu	37	chr12	14649274	14649274	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccgaccaccacaagtgcaTactgtaagtgttgatgcttg	9	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:14649274T>C	uc001rbw.2	+	14	3548	c.3390T>C	c.(3388-3390)CAT>CAC	p.H1130H	ATF7IP_uc001rbx.2_Silent_p.H1129H|ATF7IP_uc001rby.3_Silent_p.H1130H|ATF7IP_uc001rca.2_Silent_p.H1130H	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	1130					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						CACAAGTGCATACTGTAAGTG	0.393													C	14649274	T	C	14649274	2	2	27	1	0	0	0	0	0	0	0	1	1087	1403	49	3		3	ATF7IP	12	14649274	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	71934	14649274	119202621	5543	29494											
GUCY2C	2984	broad.mit.edu	37	chr12	14804958	14804958	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttgagatctttgagaaTcactcgctgcaaaaatcaat	8	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:14804958T>A	uc001rcd.2	-	14	1677	c.1540A>T	c.(1540-1542)ATT>TTT	p.I514F		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	514	Cytoplasmic (Potential).|Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6						TCTTTGAGAATCACTCGCTGC	0.289													A	14804958	T	A	14804958	3	1	27	1	0	0	0	0	1	0	0	0	6896	1435	50	5	1737	5	GUCY2C	12	14804958	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	155684	14804958	119046937	5544	29495											
GUCY2C	2984	broad.mit.edu	37	chr12	14813967	14813967	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccacagctccagtgagggTgaagactgcaatcatcagga	11	11	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:14813967T>C	uc001rcd.2	-	11	1449	c.1312A>G	c.(1312-1314)ACC>GCC	p.T438A		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	438	Helical; (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6						CCAGTGAGGGTGAAGACTGCA	0.532													C	14813967	T	C	14813967	3	2	27	1	0	0	0	0	1	0	0	0	6896	1696	59	3	1977	3	GUCY2C	12	14813967	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9009	14813967	119037928	5545	29496											
GUCY2C	2984	broad.mit.edu	37	chr12	14822720	14822720	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtggggctcatatccacAggataggtcttatttacgtg	11	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:14822720A>G	uc001rcd.2	-	10	1355	c.1218T>C	c.(1216-1218)CCT>CCC	p.P406P		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	406	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6						TCATATCCACAGGATAGGTCT	0.393													G	14822720	A	G	14822720	2	3	27	1	0	0	0	0	0	0	0	1	6896	175	7	3		3	GUCY2C	12	14822720	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	8753	14822720	119029175	5546	29497											
GUCY2C	2984	broad.mit.edu	37	chr12	14849242	14849242	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtttttcaggggctctgcAaaggctgagttgcccatcat	11	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:14849242A>G	uc001rcd.2	-	1	278	c.141T>C	c.(139-141)TTT>TTC	p.F47F	GUCY2C_uc009zhz.2_Silent_p.F47F	NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	47	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6						GGGGCTCTGCAAAGGCTGAGT	0.488													G	14849242	A	G	14849242	2	3	27	1	0	0	0	0	0	0	0	1	6896	127	5	3		3	GUCY2C	12	14849242	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	26522	14849242	119002653	5547	29498											
PTPRO	5800	broad.mit.edu	37	chr12	15652375	15652375	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taattgattttctcttcacaGatttctttaagggaaaaaca	5	6	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:15652375G>T	uc001rcv.1	+	4	683	c.509_splice	c.e4-1	p.D170_splice	PTPRO_uc001rcw.1_Splice_Site_p.D170_splice|PTPRO_uc001rcu.1_Splice_Site_p.D170_splice	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O							integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				TCTCTTCACAGATTTCTTTAA	0.313													T	15652375	G	T	15652375	5	4	27	1	0	0	0	0	0	0	1	0	12809	956	33	5	522	5	PTPRO	12	15652375	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	803133	15652375	118199520	5548	29499											
PTPRO	5800	broad.mit.edu	37	chr12	15679131	15679131	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctccaggcgacatctataAcctctcagtaactgcttgta	7	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:15679131A>C	uc001rcv.1	+	12	2273	c.2099A>C	c.(2098-2100)AAC>ACC	p.N700T	PTPRO_uc001rcw.1_Missense_Mutation_p.N700T	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	700	Fibronectin type-III 7.|Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				GACATCTATAACCTCTCAGTA	0.423													C	15679131	A	C	15679131	3	2	27	1	0	0	0	0	1	0	0	0	12809	43	2	5	2145	5	PTPRO	12	15679131	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	26756	15679131	118172764	5549	29500											
EPS8	2059	broad.mit.edu	37	chr12	15803899	15803899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagccattgcggaatcgtGgaacatatggtggaataaac	11	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:15803899G>A	uc009zif.2	-	14	1386	c.1292C>T	c.(1291-1293)CCA>CTA	p.P431L	EPS8_uc001rdb.2_Missense_Mutation_p.P431L|EPS8_uc009zig.2_Missense_Mutation_p.P171L|EPS8_uc010shv.1_Missense_Mutation_p.P171L	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	431	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GCGGAATCGTGGAACATATGG	0.443													A	15803899	G	A	15803899	3	1	27	1	0	0	0	0	1	0	0	0	5194	1348	47	4	1208	4	EPS8	12	15803899	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	124768	15803899	118047996	5550	29501											
EPS8	2059	broad.mit.edu	37	chr12	15811494	15811494	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattcatcaggaggtggaggTtttgcccgcagcgttaaaac	12	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:15811494T>C	uc009zif.2	-	11	1057	c.963A>G	c.(961-963)AAA>AAG	p.K321K	EPS8_uc001rdb.2_Silent_p.K321K|EPS8_uc009zig.2_Silent_p.K61K|EPS8_uc010shv.1_Silent_p.K61K	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	321					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GAGGTGGAGGTTTTGCCCGCA	0.348													C	15811494	T	C	15811494	2	2	27	1	0	0	0	0	0	0	0	1	5194	1722	60	3		3	EPS8	12	15811494	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	7595	15811494	118040401	5551	29502											
STRAP	11171	broad.mit.edu	37	chr12	16035702	16035702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgacccgtggttgatttgGccttcagtggcatcacgcct	12	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:16035702G>A	uc001rdc.3	+	1	415	c.61G>A	c.(61-63)GCC>ACC	p.A21T	STRAP_uc010shw.1_Missense_Mutation_p.A21T|STRAP_uc001rdd.3_5'UTR	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated	21	WD 1.				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			skin(1)	1		Hepatocellular(102;0.121)				GGTTGATTTGGCCTTCAGTGG	0.612													A	16035702	G	A	16035702	3	1	27	1	0	0	0	0	1	0	0	0	15325	1203	42	2	63	2	STRAP	12	16035702	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	224208	16035702	117816193	5552	29503											
AEBP2	121536	broad.mit.edu	37	chr12	19593269	19593269	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttggagatgtcgtcggaTggggaacccctgagccgcat	15	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:19593269T>C	uc001ref.2	+	1	662	c.636T>C	c.(634-636)GAT>GAC	p.D212D	AEBP2_uc001ree.2_Silent_p.D212D|AEBP2_uc001reg.1_5'Flank	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN	AE binding protein 2 isoform b	212	Ser-rich.|Interaction with RBBP4.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					TGTCGTCGGATGGGGAACCCC	0.483													C	19593269	T	C	19593269	2	2	27	1	0	0	0	0	0	0	0	1	350	1461	51	3		3	AEBP2	12	19593269	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3557567	19593269	114258626	5553	29504											
AEBP2	121536	broad.mit.edu	37	chr12	19615467	19615467	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcagtactataatggatgTagacagcacaatttccagtg	9	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:19615467T>C	uc001ref.2	+	2	721	c.695T>C	c.(694-696)GTA>GCA	p.V232A	AEBP2_uc001ree.2_Missense_Mutation_p.V232A|AEBP2_uc001reg.1_Missense_Mutation_p.V3A	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN	AE binding protein 2 isoform b	232	Ser-rich.|Interaction with RBBP4.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					ATAATGGATGTAGACAGCACA	0.333													C	19615467	T	C	19615467	3	2	27	1	0	0	0	0	1	0	0	0	350	1638	57	3	701	3	AEBP2	12	19615467	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	22198	19615467	114236428	5554	29505											
AEBP2	121536	broad.mit.edu	37	chr12	19671029	19671029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctttttctagaacaatgcCgcagaagaggttgaagaggt	11	7	2	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:19671029C>T	uc001ref.2	+	8	1516	c.1490C>T	c.(1489-1491)CCG>CTG	p.P497L	AEBP2_uc001ree.2_Missense_Mutation_p.P497L|AEBP2_uc001reg.1_Missense_Mutation_p.P268L	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN	AE binding protein 2 isoform b	497	Interaction with SUZ12.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					AGAACAATGCCGCAGAAGAGG	0.338													T	19671029	C	T	19671029	3	4	27	1	0	0	0	0	1	0	0	0	350	652	23	1	1520	1	AEBP2	12	19671029	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	55562	19671029	114180866	5555	29506											
PDE3A	5139	broad.mit.edu	37	chr12	20803459	20803459	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtataaagttggctgaTatcaatggtccagctaaatg	10	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:20803459T>C	uc001reh.1	+	14	2872	c.2850T>C	c.(2848-2850)GAT>GAC	p.D950D		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	950	Catalytic (By similarity).	Divalent metal cation 1 (By similarity).			lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AGTTGGCTGATATCAATGGTC	0.348													C	20803459	T	C	20803459	2	2	27	1	0	0	0	0	0	0	0	1	11637	1403	49	3		3	PDE3A	12	20803459	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1132430	20803459	113048436	5556	29507											
SLCO1C1	53919	broad.mit.edu	37	chr12	20859017	20859017	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagttcttcatggagcagTaagtctaaagcaatcatctt	7	9	6	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:20859017T>C	uc001rej.3	+	5	759	c.404_splice	c.e5+2	p.Q135_splice	SLCO1C1_uc010sii.1_Splice_Site_p.Q135_splice|SLCO1C1_uc010sij.1_Splice_Site_p.Q135_splice|SLCO1C1_uc009zip.2_Intron|SLCO1C1_uc001rei.2_Splice_Site_p.Q135_splice|SLCO1C1_uc010sik.1_Splice_Site_p.Q17_splice	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,						sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					CATGGAGCAGTAAGTCTAAAG	0.388													C	20859017	T	C	20859017	5	2	27	1	0	0	0	0	0	0	1	0	14725	1652	57	3	416	3	SLCO1C1	12	20859017	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	55558	20859017	112992878	5557	29508											
SLCO1B3	28234	broad.mit.edu	37	chr12	21033815	21033815	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtggcatctcatgtagAtgtaccactttcttattgca	7	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:21033815A>T	uc001rek.2	+	11	1484	c.1358A>T	c.(1357-1359)GAT>GTT	p.D453V	SLCO1B3_uc001rel.2_Missense_Mutation_p.D453V|SLCO1B3_uc010sil.1_Missense_Mutation_p.D453V|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.D278V	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	453	Extracellular (Potential).|Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					TCTCATGTAGATGTACCACTT	0.279													T	21033815	A	T	21033815	3	4	27	1	0	0	0	0	1	0	0	0	14724	333	12	5	1396	5	SLCO1B3	12	21033815	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	174798	21033815	112818080	5558	29509											
LST-3TM12	338821	broad.mit.edu	37	chr12	21201738	21201738	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttagttggacttgccaaaTtggcattttgttctgcaaca	8	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:21201738T>A	uc010sin.1	+	8	1087	c.1087T>A	c.(1087-1089)TTG>ATG	p.L363M	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.L410M	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	363						membrane	transporter activity				0						ACTTGCCAAATTGGCATTTTG	0.378													A	21201738	T	A	21201738	3	1	27	1	0	0	0	0	1	0	0	0	9066	1490	52	5	1117	5	LST-3TM12	12	21201738	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	167923	21201738	112650157	5559	29510											
SLCO1B1	10599	broad.mit.edu	37	chr12	21327601	21327601	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cggttgtttcattatgggaaTtggaggtgttttgactgctt	13	4	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:21327601T>A	uc001req.3	+	4	421	c.317T>A	c.(316-318)ATT>AAT	p.I106N		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	106	Helical; Name=3; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ATTATGGGAATTGGAGGTGTT	0.353													A	21327601	T	A	21327601	3	1	27	1	0	0	0	0	1	0	0	0	14723	1493	52	5	327	5	SLCO1B1	12	21327601	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	125863	21327601	112524294	5560	29511											
SLCO1B1	10599	broad.mit.edu	37	chr12	21377697	21377697	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attttggggctctgattgatAcaacgtgtataaagtggtcc	11	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:21377697A>G	uc001req.3	+	14	1893	c.1789A>G	c.(1789-1791)ACA>GCA	p.T597A		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	597	Extracellular (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TCTGATTGATACAACGTGTAT	0.368													G	21377697	A	G	21377697	3	3	27	1	0	0	0	0	1	0	0	0	14723	391	14	3	1839	3	SLCO1B1	12	21377697	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	50096	21377697	112474198	5561	29512											
RECQL	5965	broad.mit.edu	37	chr12	21636379	21636379	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaattcgagtaaatctccTtgcttcataggctttctcta	6	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:21636379T>C	uc001rex.2	-	7	979	c.631A>G	c.(631-633)AGG>GGG	p.R211G	RECQL_uc001rey.2_Missense_Mutation_p.R211G	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	211	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2						GTAAATCTCCTTGCTTCATAG	0.363								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					C	21636379	T	C	21636379	3	2	27	1	0	0	0	0	1	0	0	0	13201	1608	56	3	1358	3	RECQL	12	21636379	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	258682	21636379	112215516	5562	29513											
ABCC9	10060	broad.mit.edu	37	chr12	21981972	21981972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccgtcagttccagcatacGttgtttaaatctggtttcat	7	9	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:21981972G>A	uc001rfi.1	-	29	3609	c.3589C>T	c.(3589-3591)CGT>TGT	p.R1197C	ABCC9_uc001rfh.2_Missense_Mutation_p.R1197C|ABCC9_uc001rfj.1_Missense_Mutation_p.R1161C	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1197	Extracellular (Potential).|ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCCAGCATACGTTGTTTAAAT	0.403													A	21981972	G	A	21981972	3	1	27	1	0	0	0	0	1	0	0	0	59	1145	40	1	1242	1	ABCC9	12	21981972	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	345593	21981972	111869923	5563	29514											
ABCC9	10060	broad.mit.edu	37	chr12	22069897	22069897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaatgacattgatctccaCagccatcaagagcccattca	6	13	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:22069897C>T	uc001rfi.1	-	4	567	c.547G>A	c.(547-549)GTG>ATG	p.V183M	ABCC9_uc001rfh.2_Missense_Mutation_p.V183M|ABCC9_uc001rfj.1_Missense_Mutation_p.V183M	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	183	Helical; Name=5; (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTGATCTCCACAGCCATCAAG	0.408													T	22069897	C	T	22069897	3	4	27	1	0	0	0	0	1	0	0	0	59	478	17	4	4384	4	ABCC9	12	22069897	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	87925	22069897	111781998	5564	29515											
ABCC9	10060	broad.mit.edu	37	chr12	22078945	22078945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcgatgttgtagtggcaaCgaatcccatcacggctggca	11	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:22078945C>T	uc001rfi.1	-	3	357	c.337G>A	c.(337-339)GTT>ATT	p.V113I	ABCC9_uc001rfh.2_Missense_Mutation_p.V113I|ABCC9_uc001rfj.1_Missense_Mutation_p.V113I|ABCC9_uc001rfk.2_Missense_Mutation_p.V113I|ABCC9_uc001rfl.1_Missense_Mutation_p.V113I	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	113	Helical; Name=3; (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTAGTGGCAACGAATCCCATC	0.408													T	22078945	C	T	22078945	3	4	27	1	0	0	0	0	1	0	0	0	59	536	19	1	4598	1	ABCC9	12	22078945	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	9048	22078945	111772950	5565	29516											
SOX5	6660	broad.mit.edu	37	chr12	23687268	23687268	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cattgatgtcctcggcctgtAtctcttctttgatatgtggc	9	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:23687268A>T	uc001rfw.2	-	15	2279	c.2177T>A	c.(2176-2178)ATA>AAA	p.I726K	SOX5_uc001rfx.2_Missense_Mutation_p.I713K|SOX5_uc001rfy.2_Missense_Mutation_p.I605K|SOX5_uc001rfv.2_Missense_Mutation_p.I340K|SOX5_uc010siv.1_Missense_Mutation_p.I713K	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	726					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						CTCGGCCTGTATCTCTTCTTT	0.478													T	23687268	A	T	23687268	3	4	27	1	0	0	0	0	1	0	0	0	14954	449	16	5	118	5	SOX5	12	23687268	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1608323	23687268	110164627	5566	29517											
SOX5	6660	broad.mit.edu	37	chr12	23893932	23893932	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagctggttgatcatacCcatgagttgcctttctttct	9	10	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:23893932C>A	uc001rfw.2	-	5	712	c.610G>T	c.(610-612)GGT>TGT	p.G204C	SOX5_uc001rfx.2_Missense_Mutation_p.G191C|SOX5_uc001rfy.2_Missense_Mutation_p.G191C|SOX5_uc010siv.1_Missense_Mutation_p.G191C|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.G156C	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	204	Potential.				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						TTGATCATACCCATGAGTTGC	0.433													A	23893932	C	A	23893932	3	1	27	1	0	0	0	0	1	0	0	0	14954	623	22	5	1735	5	SOX5	12	23893932	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	206664	23893932	109957963	5567	29518											
IFLTD1	160492	broad.mit.edu	37	chr12	25702341	25702341	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgatatagttactctacTaatctgaggactagacagat	8	6	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:25702341T>C	uc001rgs.2	-	2	316	c.166A>G	c.(166-168)AGT>GGT	p.S56G	IFLTD1_uc001rgt.1_5'UTR|IFLTD1_uc010sji.1_Missense_Mutation_p.S77G|IFLTD1_uc010sjj.1_Intron|IFLTD1_uc009zjc.2_Missense_Mutation_p.S77G	NM_152590	NP_689803	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	56						intermediate filament	structural molecule activity			ovary(2)|central_nervous_system(1)	3	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GTTACTCTACTAATCTGAGGA	0.418													C	25702341	T	C	25702341	3	2	27	1	0	0	0	0	1	0	0	0	7530	1522	53	3	1028	3	IFLTD1	12	25702341	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1808409	25702341	108149554	5568	29519											
ITPR2	3709	broad.mit.edu	37	chr12	26571996	26571996	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcaccaggaagctatagaAgaattcatggacaaaaaggc	9	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:26571996A>G	uc001rhg.2	-	50	7513	c.7096T>C	c.(7096-7098)TTC>CTC	p.F2366L	ITPR2_uc009zjg.1_Missense_Mutation_p.F517L	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2366	Helical; (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					AAGCTATAGAAGAATTCATGG	0.448													G	26571996	A	G	26571996	3	3	27	1	0	0	0	0	1	0	0	0	7921	72	3	3	1041	3	ITPR2	12	26571996	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	869655	26571996	107279899	5569	29520											
ITPR2	3709	broad.mit.edu	37	chr12	26709200	26709200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccacatcttattcttgcatCgcttccctcagggaacagca	7	14	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:26709200C>T	uc001rhg.2	-	36	5347	c.4930G>A	c.(4930-4932)GAT>AAT	p.D1644N		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1644	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					ATTCTTGCATCGCTTCCCTCA	0.483													T	26709200	C	T	26709200	3	4	27	1	0	0	0	0	1	0	0	0	7921	884	31	1	3263	1	ITPR2	12	26709200	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	137204	26709200	107142695	5570	29521											
ITPR2	3709	broad.mit.edu	37	chr12	26774071	26774071	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaacctcaattggctcttcAccacctttcacttgactttc	4	15	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:26774071A>G	uc001rhg.2	-	26	3864	c.3447T>C	c.(3445-3447)GGT>GGC	p.G1149G		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1149	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					TTGGCTCTTCACCACCTTTCA	0.398													G	26774071	A	G	26774071	2	3	27	1	0	0	0	0	0	0	0	1	7921	146	6	3		3	ITPR2	12	26774071	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	64871	26774071	107077824	5571	29522											
ITPR2	3709	broad.mit.edu	37	chr12	26816642	26816642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttccggtaatcctgctgCgagtgtctcaggacgcggta	12	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:26816642C>T	uc001rhg.2	-	15	2106	c.1689G>A	c.(1687-1689)TCG>TCA	p.S563S		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	563	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					AATCCTGCTGCGAGTGTCTCA	0.473													T	26816642	C	T	26816642	2	4	27	1	0	0	0	0	0	0	0	1	7921	755	27	1		1	ITPR2	12	26816642	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	42571	26816642	107035253	5572	29523											
ITPR2	3709	broad.mit.edu	37	chr12	26864129	26864129	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctaaatagtttccagTtgcaagatgcttaaatctga	8	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:26864129T>A	uc001rhg.2	-	9	1345	c.928A>T	c.(928-930)ACT>TCT	p.T310S		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	310	Cytoplasmic (Potential).|MIR 4.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					TAGTTTCCAGTTGCAAGATGC	0.448													A	26864129	T	A	26864129	3	1	27	1	0	0	0	0	1	0	0	0	7921	1725	60	5	7373	5	ITPR2	12	26864129	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	47487	26864129	106987766	5573	29524											
C12orf11	55726	broad.mit.edu	37	chr12	27087529	27087529	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgagtccaagaatttaaaAcatgtgctccagagtcactc	7	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:27087529A>G	uc001rhk.3	-	3	797	c.260T>C	c.(259-261)GTT>GCT	p.V87A	C12orf11_uc010sjk.1_Intron	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	87					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)					AGAATTTAAAACATGTGCTCC	0.313													G	27087529	A	G	27087529	3	3	27	1	0	0	0	0	1	0	0	0	1675	43	2	3	1920	3	C12orf11	12	27087529	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	223400	27087529	106764366	5574	29525											
TM7SF3	51768	broad.mit.edu	37	chr12	27143484	27143484	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacgggtcccaaacaatgAcattgtatatgacaccttgt	8	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:27143484A>G	uc010sjl.1	-	6	1005	c.767T>C	c.(766-768)GTC>GCC	p.V256A		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3 precursor	256						integral to membrane|plasma membrane				upper_aerodigestive_tract(2)	2	Colorectal(261;0.0847)					CCAAACAATGACATTGTATAT	0.458													G	27143484	A	G	27143484	3	3	27	1	0	0	0	0	1	0	0	0	15972	275	10	3	973	3	TM7SF3	12	27143484	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	55955	27143484	106708411	5575	29526											
MED21	9412	broad.mit.edu	37	chr12	27179427	27179427	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcctctttcaataatattcaGacagcaattaacaaagacca	4	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:27179427G>T	uc001rhp.1	+	2	147	c.117G>T	c.(115-117)CAG>CAT	p.Q39H	MED21_uc009zjh.1_Intron	NM_004264	NP_004255	Q13503	MED21_HUMAN	mediator complex subunit 21	39					positive regulation of transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|transcription coactivator activity				0	Colorectal(261;0.0847)					ATAATATTCAGACAGCAATTA	0.383													T	27179427	G	T	27179427	3	4	27	1	0	0	0	0	1	0	0	0	9439	933	33	5	123	5	MED21	12	27179427	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	35943	27179427	106672468	5576	29527											
C12orf71	728858	broad.mit.edu	37	chr12	27235444	27235444	+	Translation_Start_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcacaaatttctctcaActtgagaagcttcaaaaaag	6	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:27235444A>T	uc001rhq.2	-	1	12	c.-27T>A	c.(-29--25)AGTTG>AGATG			NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN	hypothetical protein LOC728858												0						ATTTCTCTCAACTTGAGAAGC	0.383													T	27235444	A	T	27235444	1	4	27	1	0	0	0	0	0	0	0	0	1712	58	2	5		5	C12orf71	12	27235444	Translation_Start_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	56017	27235444	106616451	5577	29528											
FAR2	55711	broad.mit.edu	37	chr12	29485537	29485537	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctcttgcctctcaggtatTcaactttgacgtgcgccagt	8	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:29485537T>C	uc001ris.3	+	11	1409	c.1262T>C	c.(1261-1263)TTC>TCC	p.F421S	FAR2_uc001rit.2_Missense_Mutation_p.F421S|FAR2_uc009zjm.2_Missense_Mutation_p.F324S	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	421					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0						TCTCAGGTATTCAACTTTGAC	0.408													C	29485537	T	C	29485537	3	2	27	1	0	0	0	0	1	0	0	0	5675	1783	62	3	1300	3	FAR2	12	29485537	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2250093	29485537	104366358	5578	29529											
OVCH1	341350	broad.mit.edu	37	chr12	29592296	29592296	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatatgcatgatatatgtgtTaataaaattcagtttttctc	5	4	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:29592296T>C	uc001rix.1	-	26	3229	c.3229A>G	c.(3229-3231)AAC>GAC	p.N1077D		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	1077					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					atatatgtgttaataaaattc	0													C	29592296	T	C	29592296	3	2	27	1	0	0	0	0	1	0	0	0	11323	1754	61	3	187	3	OVCH1	12	29592296	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	106759	29592296	104259599	5579	29530											
OVCH1	341350	broad.mit.edu	37	chr12	29630380	29630380	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactggtctctgccagcaaTggtgaaggcaatatttttcc	9	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:29630380T>C	uc001rix.1	-	11	1140	c.1140A>G	c.(1138-1140)CCA>CCG	p.P380P		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	380	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CTGCCAGCAATGGTGAAGGCA	0.413													C	29630380	T	C	29630380	2	2	27	1	0	0	0	0	0	0	0	1	11323	1451	51	3		3	OVCH1	12	29630380	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	38084	29630380	104221515	5580	29531											
TMTC1	83857	broad.mit.edu	37	chr12	29665046	29665046	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggtttagttgcacagccactCtatagctctaaataaataag	7	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:29665046C>G	uc001rjb.2	-	17	2588	c.2114G>C	c.(2113-2115)AGA>ACA	p.R705T	TMTC1_uc001riz.2_Missense_Mutation_p.R462T|TMTC1_uc001rja.2_Missense_Mutation_p.R549T|TMTC1_uc001riy.2_Missense_Mutation_p.R158T	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	813	TPR 9.					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CACAGCCACTCTATAGCTCTA	0.428													G	29665046	C	G	29665046	3	3	27	1	0	0	0	0	1	0	0	0	16257	913	32	5	218	5	TMTC1	12	29665046	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	34666	29665046	104186849	5581	29532											
IPO8	10526	broad.mit.edu	37	chr12	30805933	30805933	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagcaatcctgctgaaacActtcatatagtatacctaga	5	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:30805933A>G	uc001rjd.2	-	18	2212	c.2042T>C	c.(2041-2043)GTG>GCG	p.V681A	IPO8_uc001rje.1_Missense_Mutation_p.V170A|IPO8_uc010sjt.1_Missense_Mutation_p.V476A	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	681					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTGCTGAAACACTTCATATAG	0.373													G	30805933	A	G	30805933	3	3	27	1	0	0	0	0	1	0	0	0	7798	159	6	3	1103	3	IPO8	12	30805933	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1140887	30805933	103045962	5582	29533											
CAPRIN2	65981	broad.mit.edu	37	chr12	30882246	30882246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctacttctgtcatatagCgtctgttaagaaactagata	6	7	4	2	rs146283389	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:30882246C>T	uc001rji.1	-	8	1869	c.1118G>A	c.(1117-1119)CGC>CAC	p.R373H	CAPRIN2_uc001rjf.1_Missense_Mutation_p.R170H|CAPRIN2_uc001rjg.1_Missense_Mutation_p.R40H|CAPRIN2_uc001rjh.1_Missense_Mutation_p.R373H|CAPRIN2_uc001rjj.1_Missense_Mutation_p.R40H|CAPRIN2_uc001rjk.3_Missense_Mutation_p.R373H|CAPRIN2_uc001rjl.3_Missense_Mutation_p.R373H|CAPRIN2_uc001rjm.1_Missense_Mutation_p.R40H|CAPRIN2_uc001rjn.1_Missense_Mutation_p.R40H	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	373					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)					TGTCATATAGCGTCTGTTAAG	0.368													T	30882246	C	T	30882246	3	4	27	1	0	0	0	0	1	0	0	0	2636	768	27	1	2309	1	CAPRIN2	12	30882246	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	76313	30882246	102969649	5583	29534											
CAPRIN2	65981	broad.mit.edu	37	chr12	30887988	30887988	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcaaatacactgcaccAttcaaaccccctttgaagtc	6	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:30887988A>G	uc001rji.1	-	4	1474	c.723T>C	c.(721-723)AAT>AAC	p.N241N	CAPRIN2_uc001rjf.1_Silent_p.N38N|CAPRIN2_uc001rjg.1_5'UTR|CAPRIN2_uc001rjh.1_Silent_p.N241N|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjk.3_Silent_p.N241N|CAPRIN2_uc001rjl.3_Silent_p.N241N	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	241					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)					ACACTGCACCATTCAAACCCC	0.388													G	30887988	A	G	30887988	2	3	27	1	0	0	0	0	0	0	0	1	2636	214	8	3		3	CAPRIN2	12	30887988	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	5742	30887988	102963907	5584	29535											
C12orf35	55196	broad.mit.edu	37	chr12	32135177	32135177	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggttgtattaaaatgActaatacttcttatagtgaa	7	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:32135177A>T	uc001rks.2	+	4	1702	c.1288A>T	c.(1288-1290)ACT>TCT	p.T430S		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	430										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			TATTAAAATGACTAATACTTC	0.328													T	32135177	A	T	32135177	3	4	27	1	0	0	0	0	1	0	0	0	1682	275	10	5	1290	5	C12orf35	12	32135177	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1247189	32135177	101716718	5585	29536											
SYT10	341359	broad.mit.edu	37	chr12	33592387	33592387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccacctggccggcgaagCacagctcggtgacgatgtgc	13	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:33592387C>T	uc001rll.1	-	1	368	c.71G>A	c.(70-72)TGC>TAC	p.C24Y	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	24	Vesicular (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GCCGGCGAAGCACAGCTCGGT	0.587													T	33592387	C	T	33592387	3	4	27	1	0	0	0	0	1	0	0	0	15463	710	25	2	1528	2	SYT10	12	33592387	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1457210	33592387	100259508	5586	29537											
ALG10	84920	broad.mit.edu	37	chr12	34179748	34179748	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatccagactcatttgtgaActgagctgctatgcagttgt	9	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:34179748A>G	uc001rlm.2	+	3	1639	c.1320A>G	c.(1318-1320)GAA>GAG	p.E440E		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	asparagine-linked glycosylation 10 homolog	440	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			skin(1)	1	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TCATTTGTGAACTGAGCTGCT	0.373													G	34179748	A	G	34179748	2	3	27	1	0	0	0	0	0	0	0	1	511	40	2	3		3	ALG10	12	34179748	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	587361	34179748	99672147	5587	29538											
KIF21A	55605	broad.mit.edu	37	chr12	39733972	39733972	+	Frame_Shift_Del	DEL	T	T	-													aaaaataatcaatacctttgTttttttcatttccatcacat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:39733971_39733971GT>G	uc001rly.3	-	15	2726	c.2306_2306AC>C	c.(2305-2307)acafs	p.T769fs	KIF21A_uc001rlw.3_Frame_Shift_Del_p.T86fs|KIF21A_uc001rlx.3_Frame_Shift_Del_p.T756fs|KIF21A_uc001rlz.3_Frame_Shift_Del_p.T756fs|KIF21A_uc010skl.2_Frame_Shift_Del_p.T756fs	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	769					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CAATACCTTTGTTTTTTTCAT	0.323													-	39733972	T	-	39733972	7	5	27	1	0	1	0	1	0	0	0	0	8288	1725	60	0	2811	0	KIF21A	12	39733972	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	5554224	39733972	94117923	5588	29539											
KIF21A	55605	broad.mit.edu	37	chr12	39751199	39751199	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cattctcatgaaacatgtcaTtgatgctttccacaccctct	4	13	3	2	rs145427361		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:39751199T>A	uc001rly.2	-	9	1402	c.1256A>T	c.(1255-1257)AAT>ATT	p.N419I	KIF21A_uc001rlx.2_Missense_Mutation_p.N419I|KIF21A_uc001rlz.2_Missense_Mutation_p.N419I|KIF21A_uc010skl.1_Missense_Mutation_p.N419I|KIF21A_uc001rma.1_Missense_Mutation_p.N427I	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	419	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				AAACATGTCATTGATGCTTTC	0.388													A	39751199	T	A	39751199	3	1	27	1	0	0	0	0	1	0	0	0	8288	1493	52	5	3888	5	KIF21A	12	39751199	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	17227	39751199	94100696	5589	29540											
LRRK2	120892	broad.mit.edu	37	chr12	40677882	40677882	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tataggaaaagttgaaccttCttggcttggtcctttatttc	8	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:40677882C>A	uc001rmg.3	+	19	2568	c.2447C>A	c.(2446-2448)TCT>TAT	p.S816Y	LRRK2_uc001rmh.1_Missense_Mutation_p.S438Y	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	816					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTTGAACCTTCTTGGCTTGGT	0.368													A	40677882	C	A	40677882	3	1	27	1	0	0	0	0	1	0	0	0	9033	913	32	5	2521	5	LRRK2	12	40677882	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	926683	40677882	93174013	5590	29541											
LRRK2	120892	broad.mit.edu	37	chr12	40688654	40688654	+	Frame_Shift_Del	DEL	T	T	-													tattttttaataggggcccaTttttgatcatgaagatttac							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:40688653_40688653AT>A	uc001rmg.4	+	21	2936	c.2815_2815AT>A	c.(2815-2817)attfs	p.I939fs	LRRK2_uc001rmh.1_Frame_Shift_Del_p.I561fs|LRRK2_uc009zjw.3_5'Flank	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	939					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ataGGGGCCCATTTTTGATCA	0.264													-	40688654	T	-	40688654	7	5	27	1	0	1	0	1	0	0	0	0	9033	1493	52	0	2902	0	LRRK2	12	40688654	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	10772	40688654	93163241	5591	29542											
CNTN1	1272	broad.mit.edu	37	chr12	41327636	41327636	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgaatgtgaggctgagaAcattagaggaaaggataaac	12	4	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:41327636A>G	uc001rmm.1	+	9	1054	c.941A>G	c.(940-942)AAC>AGC	p.N314S	CNTN1_uc009zjy.1_Missense_Mutation_p.N314S|CNTN1_uc001rmn.1_Missense_Mutation_p.N303S|CNTN1_uc001rmo.2_Missense_Mutation_p.N314S	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	314	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAGGCTGAGAACATTAGAGGA	0.353													G	41327636	A	G	41327636	3	3	27	1	0	0	0	0	1	0	0	0	3640	43	2	3	971	3	CNTN1	12	41327636	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	638982	41327636	92524259	5592	29543											
CNTN1	1272	broad.mit.edu	37	chr12	41374737	41374737	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggccctccaggtggtctgAgaatagaagacattagagcc	12	10	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:41374737A>G	uc001rmm.1	+	16	1944	c.1831A>G	c.(1831-1833)AGA>GGA	p.R611G	CNTN1_uc001rmn.1_Missense_Mutation_p.R600G	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	611	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGGTGGTCTGAGAATAGAAGA	0.413													G	41374737	A	G	41374737	3	3	27	1	0	0	0	0	1	0	0	0	3640	296	11	3	1889	3	CNTN1	12	41374737	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	47101	41374737	92477158	5593	29544											
PDZRN4	29951	broad.mit.edu	37	chr12	41961604	41961604	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggatgaaggctggctggAagatgaaaggaatgaattct	15	4	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:41961604A>G	uc010skn.1	+	9	958	c.890A>G	c.(889-891)GAA>GGA	p.E297G	PDZRN4_uc001rmq.3_Missense_Mutation_p.E238G|PDZRN4_uc009zjz.2_Missense_Mutation_p.E236G|PDZRN4_uc001rmr.2_Missense_Mutation_p.E123G	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	496							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GGCTGGCTGGAAGATGAAAGG	0.403													G	41961604	A	G	41961604	3	3	27	1	0	0	0	0	1	0	0	0	11710	246	9	3	1594	3	PDZRN4	12	41961604	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	586867	41961604	91890291	5594	29545											
GXYLT1	283464	broad.mit.edu	37	chr12	42512919	42512919	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttcttccagtctttcaccAcaggcaactacagctagatg	7	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:42512919A>G	uc001rms.3	-	3	594	c.369T>C	c.(367-369)TGT>TGC	p.C123C	GXYLT1_uc001rmt.3_Silent_p.C92C	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	glycosyltransferase 8 domain containing 3	123	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0						GTCTTTCACCACAGGCAACTA	0.363													G	42512919	A	G	42512919	2	3	27	1	0	0	0	0	0	0	0	1	6903	157	6	3		3	GXYLT1	12	42512919	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	551315	42512919	91338976	5595	29546											
PPHLN1	51535	broad.mit.edu	37	chr12	42745851	42745851	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggtccacctcacagaggAgtatgtaaatttcccccatg	9	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:42745851A>G	uc001rng.1	+	3	342	c.237A>G	c.(235-237)GGA>GGG	p.G79G	PPHLN1_uc001rmy.2_Silent_p.G97G|PPHLN1_uc001rna.2_Intron|PPHLN1_uc001rne.2_Silent_p.G86G|PPHLN1_uc001rnb.2_Silent_p.G86G|PPHLN1_uc001rnd.2_Intron|PPHLN1_uc001rnc.2_Silent_p.G79G|PPHLN1_uc001rnf.2_Silent_p.G79G|PPHLN1_uc010skq.1_Intron|PPHLN1_uc010skr.1_Intron|PPHLN1_uc010sks.1_Intron|PPHLN1_uc010skt.1_Intron|PPHLN1_uc001rni.1_Intron|PPHLN1_uc001rnh.1_Intron|PPHLN1_uc010sku.1_Intron	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	periphilin 1 isoform 1	79					keratinization	cytoplasm|nucleus				ovary(1)|breast(1)	2	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		CTCACAGAGGAGTATGTAAAT	0.348													G	42745851	A	G	42745851	2	3	27	1	0	0	0	0	0	0	0	1	12315	318	11	3		3	PPHLN1	12	42745851	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	232932	42745851	91106044	5596	29547											
ADAMTS20	80070	broad.mit.edu	37	chr12	43846182	43846182	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taattggttccagcaacctgAcaatagagtttacaacgatc	7	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:43846182A>G	uc010skx.1	-	14	1974	c.1974T>C	c.(1972-1974)TGT>TGC	p.C658C		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	658	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CAGCAACCTGACAATAGAGTT	0.353													G	43846182	A	G	43846182	2	3	27	1	0	0	0	0	0	0	0	1	266	273	10	3		3	ADAMTS20	12	43846182	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1100331	43846182	90005713	5597	29548											
TMEM117	84216	broad.mit.edu	37	chr12	44338087	44338087	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttcagcacaattctcTttctcttcatattttctcac	2	12	6	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:44338087T>C	uc001rod.2	+	3	418	c.352T>C	c.(352-354)TTT>CTT	p.F118L	TMEM117_uc001roe.2_Missense_Mutation_p.L47P|TMEM117_uc009zkc.2_Missense_Mutation_p.F118L	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	118	Helical; (Potential).					endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CACAATTCTCTTTCTCTTCAT	0.358													C	44338087	T	C	44338087	3	2	27	1	0	0	0	0	1	0	0	0	16028	1609	56	3	358	3	TMEM117	12	44338087	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	491905	44338087	89513808	5598	29549											
TMEM117	84216	broad.mit.edu	37	chr12	44782428	44782428	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaagctgatcaagacccaacGacttctaaaagtacacctac	6	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:44782428G>T	uc001rod.2	+	8	1584	c.1518G>T	c.(1516-1518)ACG>ACT	p.T506T	TMEM117_uc001roe.2_Silent_p.T402T|TMEM117_uc009zkc.2_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	506						endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		AAGACCCAACGACTTCTAAAA	0.398													T	44782428	G	T	44782428	2	4	27	1	0	0	0	0	0	0	0	1	16028	1045	37	5		5	TMEM117	12	44782428	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	444341	44782428	89069467	5599	29550											
NELL2	4753	broad.mit.edu	37	chr12	45170844	45170844	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttggctgatgttttggctAaaatatcctgtagctccatg	9	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:45170844A>G	uc001rog.2	-	7	1338	c.743T>C	c.(742-744)TTA>TCA	p.L248S	NELL2_uc001rof.3_Missense_Mutation_p.L247S|NELL2_uc001roh.2_Missense_Mutation_p.L248S|NELL2_uc009zkd.2_Missense_Mutation_p.L247S|NELL2_uc010skz.1_Missense_Mutation_p.L298S|NELL2_uc010sla.1_Missense_Mutation_p.L271S|NELL2_uc001roi.1_Missense_Mutation_p.L248S|NELL2_uc010slb.1_Missense_Mutation_p.L247S|NELL2_uc001roj.2_Missense_Mutation_p.L248S	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	248	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGTTTTGGCTAAAATATCCTG	0.373													G	45170844	A	G	45170844	3	3	27	1	0	0	0	0	1	0	0	0	10334	372	13	3	1763	3	NELL2	12	45170844	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	388416	45170844	88681051	5600	29551											
ARID2	196528	broad.mit.edu	37	chr12	46231180	46231180	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgtctaatgtcaagggAtagatttttaaagatgagag	10	2	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:46231180A>T	uc001ros.1	+	9	1100	c.1100A>T	c.(1099-1101)GAT>GTT	p.D367V	ARID2_uc001ror.2_Missense_Mutation_p.D367V|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Missense_Mutation_p.D13V|ARID2_uc001rot.1_Missense_Mutation_p.D13V	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	367					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ATGTCAAGGGATAGATTTTTA	0.294													T	46231180	A	T	46231180	3	4	27	1	0	0	0	0	1	0	0	0	915	333	12	5	1134	5	ARID2	12	46231180	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1060336	46231180	87620715	5601	29552											
ARID2	196528	broad.mit.edu	37	chr12	46245033	46245033	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacagatgcaagttcaacctCaacagtcgaatgcaggagtt	9	9	2	1	rs139789595		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:46245033C>T	uc001ros.1	+	15	3127	c.3127C>T	c.(3127-3129)CAA>TAA	p.Q1043*	ARID2_uc001ror.2_Nonsense_Mutation_p.Q1043*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q499*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q670*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q377*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1043	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.Q1043*(1)		ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGTTCAACCTCAACAGTCGAA	0.512													T	46245033	C	T	46245033	4	4	27	1	0	0	0	0	0	1	0	0	915	827	29	4	3185	4	ARID2	12	46245033	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	13853	46245033	87606862	5602	29553											
ARID2	196528	broad.mit.edu	37	chr12	46245055	46245055	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acagtcgaatgcaggagttgGtcagcctgcctctggtgagt	14	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:46245055G>C	uc001ros.1	+	15	3149	c.3149G>C	c.(3148-3150)GGT>GCT	p.G1050A	ARID2_uc001ror.2_Missense_Mutation_p.G1050A|ARID2_uc009zkg.1_Missense_Mutation_p.G506A|ARID2_uc009zkh.1_Missense_Mutation_p.G677A|ARID2_uc001rou.1_Missense_Mutation_p.G384A	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1050	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCAGGAGTTGGTCAGCCTGCC	0.517													C	46245055	G	C	46245055	3	2	27	1	0	0	0	0	1	0	0	0	915	1261	44	5	3207	5	ARID2	12	46245055	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	22	46245055	87606840	5603	29554											
ARID2	196528	broad.mit.edu	37	chr12	46246402	46246402	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtatcccattctcctgcccTatcatctgacgttcggtcta	6	14	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:46246402T>C	uc001ros.1	+	15	4496	c.4496T>C	c.(4495-4497)CTA>CCA	p.L1499P	ARID2_uc001ror.2_Missense_Mutation_p.L1499P|ARID2_uc009zkg.1_Missense_Mutation_p.L955P|ARID2_uc009zkh.1_Missense_Mutation_p.L1126P|ARID2_uc001rou.1_Missense_Mutation_p.L833P	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1499					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTCCTGCCCTATCATCTGAC	0.448													C	46246402	T	C	46246402	3	2	27	1	0	0	0	0	1	0	0	0	915	1522	53	3	4554	3	ARID2	12	46246402	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1347	46246402	87605493	5604	29555											
SFRS2IP	9169	broad.mit.edu	37	chr12	46316789	46316789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctttctgccaattttacaGcagcattagaggctttgctg	9	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:46316789G>A	uc001rox.2	-	13	4342	c.4055C>T	c.(4054-4056)GCT>GTT	p.A1352V	SFRS2IP_uc001row.2_Missense_Mutation_p.A1037V	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	1352					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		CAATTTTACAGCAGCATTAGA	0.483													A	46316789	G	A	46316789	3	1	27	1	0	0	0	0	1	0	0	0	14177	971	34	2	348	2	SFRS2IP	12	46316789	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	70387	46316789	87535106	5605	29556											
SFRS2IP	9169	broad.mit.edu	37	chr12	46320326	46320326	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaagaatttcctgaatttTcatttctattttcttcccaa	2	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:46320326T>C	uc001rox.2	-	11	3445	c.3158A>G	c.(3157-3159)GAA>GGA	p.E1053G	SFRS2IP_uc001row.2_Missense_Mutation_p.E738G|SFRS2IP_uc001roy.1_Missense_Mutation_p.E1127G	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	1053					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		TCCTGAATTTTCATTTCTATT	0.403													C	46320326	T	C	46320326	3	2	27	1	0	0	0	0	1	0	0	0	14177	1783	62	3	1253	3	SFRS2IP	12	46320326	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3537	46320326	87531569	5606	29557											
SFRS2IP	9169	broad.mit.edu	37	chr12	46321589	46321589	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacatgcccaagcaattgaAcctctgggctcttaacagat	7	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:46321589A>G	uc001rox.2	-	11	2182	c.1895T>C	c.(1894-1896)GTT>GCT	p.V632A	SFRS2IP_uc001row.2_Missense_Mutation_p.V317A|SFRS2IP_uc001roy.1_Missense_Mutation_p.V706A	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	632					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		AAGCAATTGAACCTCTGGGCT	0.368													G	46321589	A	G	46321589	3	3	27	1	0	0	0	0	1	0	0	0	14177	43	2	3	2516	3	SFRS2IP	12	46321589	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1263	46321589	87530306	5607	29558											
SLC38A2	54407	broad.mit.edu	37	chr12	46756850	46756850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcacagccattaacacaGccagacggacaatgagaaga	11	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:46756850G>A	uc001rpg.2	-	13	1573	c.1133C>T	c.(1132-1134)GCT>GTT	p.A378V	SLC38A2_uc010sli.1_Missense_Mutation_p.A216V|SLC38A2_uc001rph.2_Missense_Mutation_p.A278V	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	378	Helical; (Potential).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		CATTAACACAGCCAGACGGAC	0.398													A	46756850	G	A	46756850	3	1	27	1	0	0	0	0	1	0	0	0	14604	971	34	2	403	2	SLC38A2	12	46756850	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	435261	46756850	87095045	5608	29559											
SLC38A2	54407	broad.mit.edu	37	chr12	46764393	46764393	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaaatactgacattccaaaGgaagtagtacctggatgcta	8	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:46764393G>T	uc001rpg.2	-	4	656	c.216C>A	c.(214-216)TCC>TCA	p.S72S	SLC38A2_uc001rph.2_Intron	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	72	Cytoplasmic (Potential).|Regulates protein turnover upon amino acid deprivation (By similarity).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ACATTCCAAAGGAAGTAGTAC	0.378													T	46764393	G	T	46764393	2	4	27	1	0	0	0	0	0	0	0	1	14604	987	35	5		5	SLC38A2	12	46764393	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	7543	46764393	87087502	5609	29560											
SLC38A4	55089	broad.mit.edu	37	chr12	47172470	47172470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggtaacattaccacatgCattggaagcgtgttgttgaa	11	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:47172470C>T	uc001rpi.2	-	11	1206	c.807G>A	c.(805-807)ATG>ATA	p.M269I	SLC38A4_uc001rpj.2_Missense_Mutation_p.M269I	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	269	Extracellular (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Lung SC(27;0.192)|Renal(347;0.236)					TTACCACATGCATTGGAAGCG	0.453													T	47172470	C	T	47172470	3	4	27	1	0	0	0	0	1	0	0	0	14606	710	25	2	864	2	SLC38A4	12	47172470	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	408077	47172470	86679425	5610	29561											
COL2A1	1280	broad.mit.edu	37	chr12	48367266	48367266	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccatgggtgcaatgtcaAtgatggggaggcgtgaggtc	17	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:48367266A>G	uc001rqu.2	-	54	4569	c.4388T>C	c.(4387-4389)ATT>ACT	p.I1463T	COL2A1_uc001rqt.2_Missense_Mutation_p.I244T|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.I1394T	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1463	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGCAATGTCAATGATGGGGAG	0.517													G	48367266	A	G	48367266	3	3	27	1	0	0	0	0	1	0	0	0	3687	101	4	3	79	3	COL2A1	12	48367266	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1194796	48367266	85484629	5611	29562											
COL2A1	1280	broad.mit.edu	37	chr12	48369119	48369119	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactcttccactcagggtgGcagagtttcaggtctctgca	10	13	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:48369119G>A	uc001rqu.2	-	51	4048	c.3867C>T	c.(3865-3867)TGC>TGT	p.C1289C	COL2A1_uc001rqt.2_Silent_p.C70C|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.C1220C	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1289	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACTCAGGGTGGCAGAGTTTCA	0.602													A	48369119	G	A	48369119	2	1	27	1	0	0	0	0	0	0	0	1	3687	1195	42	2		2	COL2A1	12	48369119	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1853	48369119	85482776	5612	29563											
SENP1	29843	broad.mit.edu	37	chr12	48442746	48442746	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtactcccaggtgaatgggcAccaaaagaatgtcaacagaa	10	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:48442746A>G	uc001rqx.2	-	14	2023	c.1577T>C	c.(1576-1578)GTG>GCG	p.V526A	SENP1_uc001rqw.2_Missense_Mutation_p.V526A|SENP1_uc001rqy.2_Missense_Mutation_p.V327A|SENP1_uc001rqz.2_Missense_Mutation_p.V327A|SENP1_uc009zkx.2_Missense_Mutation_p.V526A	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	sentrin/SUMO-specific protease 1	526	Protease.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			pancreas(2)|lung(1)	3		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				GTGAATGGGCACCAAAAGAAT	0.338													G	48442746	A	G	48442746	3	3	27	1	0	0	0	0	1	0	0	0	14046	159	6	3	374	3	SENP1	12	48442746	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	73627	48442746	85409149	5613	29564											
SENP1	29843	broad.mit.edu	37	chr12	48457539	48457539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagagtttgaatatctttgCgtgtaatggtcaggcgaaat	11	4	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:48457539C>T	uc001rqx.2	-	13	1807	c.1361G>A	c.(1360-1362)CGC>CAC	p.R454H	SENP1_uc001rqw.2_Missense_Mutation_p.R454H|SENP1_uc001rqy.2_Missense_Mutation_p.R255H|SENP1_uc001rqz.2_Missense_Mutation_p.R255H|SENP1_uc009zkx.2_Missense_Mutation_p.R454H	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	sentrin/SUMO-specific protease 1	454	Protease.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			pancreas(2)|lung(1)	3		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				AATATCTTTGCGTGTAATGGT	0.333													T	48457539	C	T	48457539	3	4	27	1	0	0	0	0	1	0	0	0	14046	768	27	1	594	1	SENP1	12	48457539	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	14793	48457539	85394356	5614	29565											
PFKM	5213	broad.mit.edu	37	chr12	48535570	48535570	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcagtgccaatataactaAgtttaacattcagggccttg	8	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:48535570A>C	uc001rrc.2	+	16	1630	c.1460A>C	c.(1459-1461)AAG>ACG	p.K487T	PFKM_uc001rra.1_Missense_Mutation_p.K172T|PFKM_uc001rrb.1_Missense_Mutation_p.K558T|PFKM_uc001rrd.2_Missense_Mutation_p.K172T|PFKM_uc001rre.1_Missense_Mutation_p.K487T|PFKM_uc001rrg.1_Missense_Mutation_p.K456T	NM_000289	NP_000280	P08237	K6PF_HUMAN	phosphofructokinase, muscle	487					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						AATATAACTAAGTTTAACATT	0.383													C	48535570	A	C	48535570	3	2	27	1	0	0	0	0	1	0	0	0	11765	72	3	5	1739	5	PFKM	12	48535570	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	78031	48535570	85316325	5615	29566											
DDX23	9416	broad.mit.edu	37	chr12	49224275	49224275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaagatggtctcttcccGgcgcttcttggtgaggatgg	15	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:49224275G>A	uc001rsm.2	-	17	2531	c.2440C>T	c.(2440-2442)CGG>TGG	p.R814W		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	814						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)|skin(1)	6						GTCTCTTCCCGGCGCTTCTTG	0.567													A	49224275	G	A	49224275	3	1	27	1	0	0	0	0	1	0	0	0	4350	1115	39	1	26	1	DDX23	12	49224275	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	688705	49224275	84627620	5616	29567											
FKBP11	51303	broad.mit.edu	37	chr12	49315835	49315835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagactttgggtctattggCctttctgtataggtgatacc	12	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:49315835C>T	uc001rsp.2	-	6	657	c.538G>A	c.(538-540)GCC>ACC	p.A180T	FKBP11_uc010sma.1_Missense_Mutation_p.A78T|FKBP11_uc001rsq.3_3'UTR	NM_016594	NP_057678	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11 isoform 1 precursor	180					protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						GGTCTATTGGCCTTTCTGTAT	0.413													T	49315835	C	T	49315835	3	4	27	1	0	0	0	0	1	0	0	0	5903	739	26	2	71	2	FKBP11	12	49315835	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	91560	49315835	84536060	5617	29568											
MLL2	8085	broad.mit.edu	37	chr12	49420243	49420243	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagccgttctccccgctgaAtgatgctagcgatttgcttc	10	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:49420243A>G	uc001rta.3	-	48	15506	c.15506T>C	c.(15505-15507)ATT>ACT	p.I5169T		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5169					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TCCCCGCTGAATGATGCTAGC	0.572			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			G	49420243	A	G	49420243	3	3	27	1	0	0	0	0	1	0	0	0	9621	101	4	3	1135	3	MLL2	12	49420243	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	104408	49420243	84431652	5618	29569											
MLL2	8085	broad.mit.edu	37	chr12	49420661	49420661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacagaaacagcagcgacGcatgtctcgcggtaccttgt	11	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:49420661G>A	uc001rta.3	-	48	15088	c.15088C>T	c.(15088-15090)CGT>TGT	p.R5030C		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5030					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CAGCAGCGACGCATGTCTCGC	0.622			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49420661	G	A	49420661	3	1	27	1	0	0	0	0	1	0	0	0	9621	1087	38	1	1553	1	MLL2	12	49420661	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	418	49420661	84431234	5619	29570											
MLL2	8085	broad.mit.edu	37	chr12	49445526	49445527	+	Frame_Shift_Ins	INS	-	-	G													taggcgcgatacctcaggtgINSggggggacataggtgattct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:49445525_49445526T>TG	uc001rta.4	-	9	1940_1941	c.1940_1941A>CA	c.(1939-1941)ccafs	p.P647fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	647	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.P647fs*38(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ATACCTCAGGTGGGGGGGACAT	0.634			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			G	49445527	-	G	49445526	7	5	27	1	0	1	1	0	0	0	0	0	9621	1348	47	0	14853	0	MLL2	12	49445526	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	24865	49445526	84406369	5620	29571											
TUBA1B	10376	broad.mit.edu	37	chr12	49523058	49523058	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cggtccaacacaaggtcaatGatctccttgccaatggtgta	9	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:49523058G>T	uc001rtm.2	-	3	563	c.342C>A	c.(340-342)ATC>ATA	p.I114I	TUBA1B_uc001rto.2_Intron|TUBA1B_uc001rtk.2_Silent_p.I79I|TUBA1B_uc001rtl.2_Silent_p.I79I|TUBA1B_uc001rtn.2_Intron	NM_006082	NP_006073	P68363	TBA1B_HUMAN	tubulin, alpha, ubiquitous	114					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding				0						CAAGGTCAATGATCTCCTTGC	0.498													T	49523058	G	T	49523058	2	4	27	1	0	0	0	0	0	0	0	1	16741	1280	45	5		5	TUBA1B	12	49523058	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	77532	49523058	84328837	5621	29572											
C1QL4	338761	broad.mit.edu	37	chr12	49726989	49726989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagtcgtagttctggtccgCgtcctgagcaatggcgctgg	15	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:49726989C>T	uc001rtz.1	-	2	1276	c.565G>A	c.(565-567)GCG>ACG	p.A189T		NM_001008223	NP_001008224	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	189	C1q.					collagen					0						TTCTGGTCCGCGTCCTGAGCA	0.647													T	49726989	C	T	49726989	3	4	27	1	0	0	0	0	1	0	0	0	1961	768	27	1	155	1	C1QL4	12	49726989	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	203931	49726989	84124906	5622	29573											
KCNH3	23416	broad.mit.edu	37	chr12	49937785	49937785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttgcctccactacgtcaCcacctggttcctgctggatg	8	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:49937785C>T	uc001ruh.1	+	6	1171	c.911C>T	c.(910-912)ACC>ATC	p.T304I	KCNH3_uc010smj.1_Missense_Mutation_p.T244I	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	304	Helical; Name=Segment S3; (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						CACTACGTCACCACCTGGTTC	0.572													T	49937785	C	T	49937785	3	4	27	1	0	0	0	0	1	0	0	0	8033	507	18	4	933	4	KCNH3	12	49937785	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	210796	49937785	83914110	5623	29574											
KCNH3	23416	broad.mit.edu	37	chr12	49944111	49944111	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccgtgctcgccatcctAggtttgtgagggtgggagag	17	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:49944111A>G	uc001ruh.1	+	10	2177	c.1917A>G	c.(1915-1917)CTA>CTG	p.L639L	KCNH3_uc010smj.1_Silent_p.L579L	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	639	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						TCGCCATCCTAGGTTTGTGAG	0.617													G	49944111	A	G	49944111	2	3	27	1	0	0	0	0	0	0	0	1	8033	434	15	3		3	KCNH3	12	49944111	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	6326	49944111	83907784	5624	29575											
MCRS1	10445	broad.mit.edu	37	chr12	49953259	49953259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcgagcgcatcaggtaccGcaccatgcggccccgcagca	12	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:49953259G>A	uc001ruk.1	-	12	1254	c.1063C>T	c.(1063-1065)CGG>TGG	p.R355W	MCRS1_uc001rui.1_Missense_Mutation_p.R368W|MCRS1_uc001ruj.1_Missense_Mutation_p.R342W|MCRS1_uc001rul.1_Missense_Mutation_p.R355W|MCRS1_uc009zlj.1_Missense_Mutation_p.R164W|MCRS1_uc001rum.1_Missense_Mutation_p.R342W	NM_006337	NP_006328	Q96EZ8	MCRS1_HUMAN	microspherule protein 1 isoform 1	355					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			large_intestine(1)	1						ATCAGGTACCGCACCATGCGG	0.622													A	49953259	G	A	49953259	3	1	27	1	0	0	0	0	1	0	0	0	9399	1086	38	1	341	1	MCRS1	12	49953259	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	9148	49953259	83898636	5625	29576											
PRPF40B	25766	broad.mit.edu	37	chr12	50025258	50025258	+	Frame_Shift_Del	DEL	C	C	-													agtcagagaccaccagctatCccccccatgccacctggcat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:50025257_50025257TC>T	uc001rur.1	+	1	155	c.92_92TC>T	c.(91-93)atcfs	p.I31fs	PRPF40B_uc001rup.1_Frame_Shift_Del_p.I53fs|PRPF40B_uc001ruq.1_Frame_Shift_Del_p.I25fs|PRPF40B_uc001rus.1_5'Flank	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	31	Pro-rich.				RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCACCAGCTATCCCCCCCATG	0.607													-	50025258	C	-	50025258	7	5	27	1	0	1	0	1	0	0	0	0	12572	845	30	0	99	0	PRPF40B	12	50025258	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	71999	50025258	83826637	5626	29577											
FMNL3	91010	broad.mit.edu	37	chr12	50040738	50040738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttccttggcctggcgccGcctcaactctgctattaact	9	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:50040738G>A	uc001ruv.1	-	25	3160	c.2926C>T	c.(2926-2928)CGG>TGG	p.R976W	FMNL3_uc001ruw.1_Missense_Mutation_p.R925W|FMNL3_uc001rut.1_Missense_Mutation_p.R542W|FMNL3_uc001ruu.1_Missense_Mutation_p.R826W	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	976					actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4						GCCTGGCGCCGCCTCAACTCT	0.567													A	50040738	G	A	50040738	3	1	27	1	0	0	0	0	1	0	0	0	5953	1086	38	1	165	1	FMNL3	12	50040738	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	15480	50040738	83811157	5627	29578											
FMNL3	91010	broad.mit.edu	37	chr12	50041555	50041555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtagtcttgggactctcGccaaagtagcgcacaactgc	12	11	2	0	rs148320034	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:50041555G>A	uc001ruv.1	-	23	2943	c.2709C>T	c.(2707-2709)GGC>GGT	p.G903G	FMNL3_uc001ruw.1_Silent_p.G852G|FMNL3_uc001rut.1_Silent_p.G469G|FMNL3_uc001ruu.1_Silent_p.G753G	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	903	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4						TGGGACTCTCGCCAAAGTAGC	0.517													A	50041555	G	A	50041555	2	1	27	1	0	0	0	0	0	0	0	1	5953	1074	38	1		1	FMNL3	12	50041555	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	817	50041555	83810340	5628	29579											
FMNL3	91010	broad.mit.edu	37	chr12	50044495	50044495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatctcctcagccgagcggCcagccttgcgtagggtgatg	14	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:50044495C>T	uc001ruv.1	-	17	2198	c.1964G>A	c.(1963-1965)GGC>GAC	p.G655D	FMNL3_uc001ruw.1_Missense_Mutation_p.G604D|FMNL3_uc001rut.1_Missense_Mutation_p.G221D|FMNL3_uc001ruu.1_Missense_Mutation_p.G505D	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	655	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4						AGCCGAGCGGCCAGCCTTGCG	0.572													T	50044495	C	T	50044495	3	4	27	1	0	0	0	0	1	0	0	0	5953	739	26	2	1159	2	FMNL3	12	50044495	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2940	50044495	83807400	5629	29580											
NCKAP5L	57701	broad.mit.edu	37	chr12	50190678	50190678	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccaggttcaactgtctgcggGccagggcaccgagcagggtg	16	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:50190678G>C	uc009zlk.2	-	8	1167	c.965C>G	c.(964-966)GCC>GGC	p.A322G	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_5'UTR	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	318	Pro-rich.									central_nervous_system(1)	1						CTGTCTGCGGGCCAGGGCACC	0.652													C	50190678	G	C	50190678	3	2	27	1	0	0	0	0	1	0	0	0	10224	1203	42	5	3063	5	NCKAP5L	12	50190678	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	146183	50190678	83661217	5630	29581											
FAIM2	23017	broad.mit.edu	37	chr12	50291301	50291301	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtccatgctgccaactcaCcagaaagtaaagagagccac	9	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:50291301C>T	uc001rvj.1	-	4	525	c.380_splice	c.e4+1	p.C127_splice	FAIM2_uc001rvi.1_Splice_Site_p.C81_splice|FAIM2_uc001rvk.1_Splice_Site	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2						anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|ovary(1)|skin(1)	3						TGCCAACTCACCAGAAAGTAA	0.592													T	50291301	C	T	50291301	5	4	27	1	0	0	0	0	0	0	1	0	5376	521	18	4	605	4	FAIM2	12	50291301	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	100623	50291301	83560594	5631	29582											
RACGAP1	29127	broad.mit.edu	37	chr12	50399142	50399142	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgccagatgtgtcacacaTgagcatctctcgaatcagct	9	12	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:50399142T>C	uc001rvt.2	-	6	632	c.322A>G	c.(322-324)ATG>GTG	p.M108V	RACGAP1_uc009zlm.1_Missense_Mutation_p.M108V|RACGAP1_uc001rvs.2_Missense_Mutation_p.M108V|RACGAP1_uc001rvu.2_Missense_Mutation_p.M108V	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	108	Potential.|Interaction with SLC26A8.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			kidney(1)	1						GTGTCACACATGAGCATCTCT	0.463													C	50399142	T	C	50399142	3	2	27	1	0	0	0	0	1	0	0	0	12977	1464	51	3	1632	3	RACGAP1	12	50399142	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	107841	50399142	83452753	5632	29583											
ACCN2	41	broad.mit.edu	37	chr12	50475044	50475044	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccccgtccccgtcctaggTcattaagcacaagctgtgcc	9	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:50475044T>C	uc001rvw.2	+	11	1608	c.1379T>C	c.(1378-1380)GTC>GCC	p.V460A	ACCN2_uc001rvv.2_Missense_Mutation_p.V506A|ACCN2_uc009zln.2_Missense_Mutation_p.V251A|ACCN2_uc009zlo.2_Missense_Mutation_p.V460A	NM_001095	NP_001086	P78348	ACCN2_HUMAN	amiloride-sensitive cation channel 2, neuronal	460	Cytoplasmic (By similarity).				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(1)	1					Amiloride(DB00594)	CCGTCCTAGGTCATTAAGCAC	0.657													C	50475044	T	C	50475044	3	2	27	1	0	0	0	0	1	0	0	0	129	1681	58	3	1555	3	ACCN2	12	50475044	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	75902	50475044	83376851	5633	29584											
DIP2B	57609	broad.mit.edu	37	chr12	51086792	51086792	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggctgtggcacggcatgtTtgcggtaagctactcagatt	14	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:51086792T>C	uc001rwv.2	+	14	1871	c.1715T>C	c.(1714-1716)TTT>TCT	p.F572S	DIP2B_uc009zlt.2_Missense_Mutation_p.F2S	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	572						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						CACGGCATGTTTGCGGTAAGC	0.388													C	51086792	T	C	51086792	3	2	27	1	0	0	0	0	1	0	0	0	4528	1841	64	3	1769	3	DIP2B	12	51086792	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	611748	51086792	82765103	5634	29585											
METTL7A	25840	broad.mit.edu	37	chr12	51319022	51319022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctgcaggagtttgcgggCccctccgggaaactctccct	11	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:51319022C>T	uc001rxb.2	+	1	489	c.201C>T	c.(199-201)GGC>GGT	p.G67G	METTL7A_uc010smv.1_Silent_p.G67G	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN	methyltransferase like 7A precursor	67						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity				0						AGTTTGCGGGCCCCTCCGGGA	0.562													T	51319022	C	T	51319022	2	4	27	1	0	0	0	0	0	0	0	1	9505	726	26	2		2	METTL7A	12	51319022	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	232230	51319022	82532873	5635	29586											
SCN8A	6334	broad.mit.edu	37	chr12	52078069	52078069	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaatagctattaaaattttgAtacattcatatccttttcgg	5	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:52078069A>T	uc001ryw.2	+	3	566	c.388A>T	c.(388-390)ATA>TTA	p.I130L	SCN8A_uc010snl.1_5'Flank|SCN8A_uc001ryx.1_5'Flank|SCN8A_uc001ryz.1_5'Flank|SCN8A_uc001ryy.2_5'Flank	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	130	Helical; Name=S1 of repeat I; (Potential).|I.				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TAAAATTTTGATACATTCATA	0.353													T	52078069	A	T	52078069	3	4	27	1	0	0	0	0	1	0	0	0	13924	333	12	5	394	5	SCN8A	12	52078069	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	759047	52078069	81773826	5636	29587											
ACVRL1	94	broad.mit.edu	37	chr12	52308233	52308233	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccatcaggaaaaggccgCtatggcgaagtgtggcgggg	18	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:52308233C>T	uc001rzj.2	+	6	919	c.636C>T	c.(634-636)CGC>CGT	p.R212R	ACVRL1_uc001rzk.2_Silent_p.R212R|ACVRL1_uc010snm.1_Silent_p.R38R	NM_000020	NP_000011	P37023	ACVL1_HUMAN	activin A receptor type II-like 1 precursor	212	Cytoplasmic (Potential).|ATP (By similarity).|Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GAAAAGGCCGCTATGGCGAAG	0.607									Hereditary_Hemorrhagic_Telangiectasia				T	52308233	C	T	52308233	2	4	27	1	0	0	0	0	0	0	0	1	225	784	28	2		2	ACVRL1	12	52308233	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	230164	52308233	81543662	5637	29588											
GRASP	160622	broad.mit.edu	37	chr12	52407946	52407946	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgagaagtggggagagTacaggtccctaatggtgcag	16	5	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:52407946T>C	uc001rzo.1	+	7	699	c.643T>C	c.(643-645)TAC>CAC	p.Y215H	GRASP_uc001rzp.1_Missense_Mutation_p.Y72H	NM_181711	NP_859062	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides	215	Interaction with PSCD3 (By similarity).					cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GTGGGGAGAGTACAGGTCCCT	0.577													C	52407946	T	C	52407946	3	2	27	1	0	0	0	0	1	0	0	0	6755	1638	57	3	669	3	GRASP	12	52407946	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	99713	52407946	81443949	5638	29589											
KRT6B	3854	broad.mit.edu	37	chr12	52841348	52841348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacttgtccaacgccttcGccattcagcctgtggagagg	11	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:52841348G>A	uc001sak.2	-	8	1482	c.1434C>T	c.(1432-1434)GGC>GGT	p.G478G		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	478	Tail.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)		CAACGCCTTCGCCATTCAGCC	0.552													A	52841348	G	A	52841348	2	1	27	1	0	0	0	0	0	0	0	1	8481	1074	38	1		1	KRT6B	12	52841348	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	433402	52841348	81010547	5639	29590											
KRT5	3852	broad.mit.edu	37	chr12	52911395	52911395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtctgataccaggactcGgcttctgtccggctgcggtt	13	11	2	1	rs149467228	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:52911395G>A	uc001san.2	-	5	1234	c.1071C>T	c.(1069-1071)GCC>GCT	p.A357A	KRT5_uc009zmh.2_Silent_p.A357A	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	357	Rod.|Coil 2.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACCAGGACTCGGCTTCTGTCC	0.547													A	52911395	G	A	52911395	2	1	27	1	0	0	0	0	0	0	0	1	8479	1103	39	1		1	KRT5	12	52911395	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	70047	52911395	80940500	5640	29591											
KRT72	140807	broad.mit.edu	37	chr12	52985415	52985416	+	Splice_Site	INS	-	-	G													tggatctgagtgatctcctgINSgggacggttgggggagggga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:52985414_52985415T>TG	uc001sar.2	-	5	885	c.799_splice	c.e5-1	p.E267_splice	KRT72_uc001saq.2_Splice_Site_p.E267_splice|KRT72_uc010sns.1_Splice_Site_p.E267_splice|KRT72_uc010snt.1_Splice_Site_p.E79_splice	NM_001146225	NP_542785	Q14CN4	K2C72_HUMAN	Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA.	267	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		AGTGATCTCCTGGGGACGGTTG	0.564													G	52985416	-	G	52985415	8	5	27	1	0	1	1	0	0	0	1	0	8485	1363	47	0		0	KRT72	12	52985415	Splice_Site	INS	-	TCGA-BR-6452-01A-12D-1800-08	74020	52985415	80866480	5641	29592											
KRT2	3849	broad.mit.edu	37	chr12	53040608	53040608	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttcatcagctcctggtagTcacgcagcagccgcgccaag	11	15	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:53040608T>C	uc001sat.2	-	7	1418	c.1385A>G	c.(1384-1386)GAC>GGC	p.D462G		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	462	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTCCTGGTAGTCACGCAGCAG	0.617													C	53040608	T	C	53040608	3	2	27	1	0	0	0	0	1	0	0	0	8457	1667	58	3	546	3	KRT2	12	53040608	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	55193	53040608	80811287	5642	29593											
KRT77	374454	broad.mit.edu	37	chr12	53086570	53086570	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttgctgatctctgcctgcAgcctctggacggtgcggttg	14	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:53086570A>C	uc001saw.2	-	6	1204	c.1175T>G	c.(1174-1176)CTG>CGG	p.L392R	KRT77_uc009zmi.2_Missense_Mutation_p.L150R	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	keratin 77	392	Rod.|Coil 2.					keratin filament	structural molecule activity			ovary(1)	1						CTCTGCCTGCAGCCTCTGGAC	0.597													C	53086570	A	C	53086570	3	2	27	1	0	0	0	0	1	0	0	0	8490	188	7	5	577	5	KRT77	12	53086570	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	45962	53086570	80765325	5643	29594											
KRT76	51350	broad.mit.edu	37	chr12	53165877	53165877	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacacagggagggttcccaCcttggtctggtacagggcct	15	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:53165877C>T	uc001sax.2	-	5	1191	c.1137_splice	c.e5+1	p.K379_splice		NM_015848	NP_056932	Q01546	K22O_HUMAN	keratin 76						cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|skin(1)	2						AGGGTTCCCACCTTGGTCTGG	0.547													T	53165877	C	T	53165877	5	4	27	1	0	0	0	0	0	0	1	0	8489	521	18	4	798	4	KRT76	12	53165877	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	79307	53165877	80686018	5644	29595											
MFSD5	84975	broad.mit.edu	37	chr12	53647656	53647656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggtggagtccttcatagCctttctacttattgagttgg	10	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:53647656C>T	uc001sci.1	+	2	1228	c.1037C>T	c.(1036-1038)GCC>GTC	p.A346V	MFSD5_uc001sch.1_Missense_Mutation_p.A453V	NM_032889	NP_116278	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing	346	Helical; (Potential).				transport	integral to membrane				skin(2)|ovary(1)	3						TCCTTCATAGCCTTTCTACTT	0.512													T	53647656	C	T	53647656	3	4	27	1	0	0	0	0	1	0	0	0	9534	739	26	2	1364	2	MFSD5	12	53647656	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	481779	53647656	80204239	5645	29596											
MAP3K12	7786	broad.mit.edu	37	chr12	53879982	53879982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatacagctggccctgggCgcagaactccatgaggatgc	12	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:53879982C>T	uc001sdm.1	-	5	678	c.580G>A	c.(580-582)GCC>ACC	p.A194T	MAP3K12_uc001sdn.1_Missense_Mutation_p.A227T	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	194	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						TGGCCCTGGGCGCAGAACTCC	0.607													T	53879982	C	T	53879982	3	4	27	1	0	0	0	0	1	0	0	0	9246	768	27	1	2043	1	MAP3K12	12	53879982	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	232326	53879982	79971913	5646	29597											
TARBP2	6895	broad.mit.edu	37	chr12	53899798	53899798	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgagcctgagtggactcTgccagtgcctggtggaactg	15	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:53899798T>C	uc001sdo.2	+	9	1455	c.967T>C	c.(967-969)TGC>CGC	p.C323R	TARBP2_uc001sdp.2_Missense_Mutation_p.C302R|TARBP2_uc001sdq.2_Missense_Mutation_p.C179R|TARBP2_uc001sdr.2_Missense_Mutation_p.C179R|TARBP2_uc001sds.2_3'UTR|TARBP2_uc001sdt.2_Missense_Mutation_p.C302R|TARBP2_uc001sdu.2_Missense_Mutation_p.C179R|TARBP2_uc001sdv.2_RNA	NM_134323	NP_599150	Q15633	TRBP2_HUMAN	TAR RNA binding protein 2 isoform a	323	Sufficient for interaction with DICER1.|DRBM 3.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)	1						GAGTGGACTCTGCCAGTGCCT	0.642													C	53899798	T	C	53899798	3	2	27	1	0	0	0	0	1	0	0	0	15553	1580	55	3	1001	3	TARBP2	12	53899798	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	19816	53899798	79952097	5647	29598											
NPFF	8620	broad.mit.edu	37	chr12	53901178	53901178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcggagagctggtcttcctgCtggcctcctggcccttcagc	13	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:53901178C>A	uc001sdw.1	-	1	245	c.81G>T	c.(79-81)CAG>CAT	p.Q27H		NM_003717	NP_003708	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide preproprotein	27					neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity				0						GGTCTTCCTGCTGGCCTCCTG	0.567													A	53901178	C	A	53901178	3	1	27	1	0	0	0	0	1	0	0	0	10576	796	28	5	272	5	NPFF	12	53901178	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1380	53901178	79950717	5648	29599											
ATP5G2	517	broad.mit.edu	37	chr12	54063713	54063713	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagatagcggacggctcagcAgctgtgaggtgctcttgacc	14	11	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:54063713A>G	uc009znc.2	-	4	760	c.59T>C	c.(58-60)CTG>CCG	p.L20P	ATP5G2_uc001sec.2_Missense_Mutation_p.L77P|ATP5G2_uc001sed.2_Missense_Mutation_p.L36P	NM_001002031	NP_001002031	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	20					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			ovary(1)	1						ACGGCTCAGCAGCTGTGAGGT	0.522													G	54063713	A	G	54063713	3	3	27	1	0	0	0	0	1	0	0	0	1154	188	7	3	378	3	ATP5G2	12	54063713	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	162535	54063713	79788182	5649	29600											
HOXC12	3228	broad.mit.edu	37	chr12	54348796	54348796	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacaccttctacttccccaActtccgcgcgtccggggcgc	9	18	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:54348796A>G	uc010soq.1	+	1	83	c.83A>G	c.(82-84)AAC>AGC	p.N28S		NM_173860	NP_776272	P31275	HXC12_HUMAN	homeobox C12	28					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1						TACTTCCCCAACTTCCGCGCG	0.672													G	54348796	A	G	54348796	3	3	27	1	0	0	0	0	1	0	0	0	7311	43	2	3	85	3	HOXC12	12	54348796	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	285083	54348796	79503099	5650	29601											
ITGA5	3678	broad.mit.edu	37	chr12	54797044	54797044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtccactggggcttggGggtccaaggagaagttgaga	18	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:54797044G>A	uc001sga.2	-	18	1909	c.1841C>T	c.(1840-1842)CCC>CTC	p.P614L		NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	614	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			ovary(2)	2						TGGGGCTTGGGGGTCCAAGGA	0.582													A	54797044	G	A	54797044	3	1	27	1	0	0	0	0	1	0	0	0	7879	1232	43	4	1360	4	ITGA5	12	54797044	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	448248	54797044	79054851	5651	29602											
NCKAP1L	3071	broad.mit.edu	37	chr12	54922129	54922129	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcccagagaaggggagcagaActtcagtgcagaggagttct	15	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:54922129A>T	uc001sgc.3	+	22	2553	c.2474A>T	c.(2473-2475)AAC>ATC	p.N825I	NCKAP1L_uc010sox.1_Missense_Mutation_p.N367I|NCKAP1L_uc010soy.1_Missense_Mutation_p.N775I	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	825					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						GGGGAGCAGAACTTCAGTGCA	0.542													T	54922129	A	T	54922129	3	4	27	1	0	0	0	0	1	0	0	0	10222	43	2	5	2560	5	NCKAP1L	12	54922129	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	125085	54922129	78929766	5652	29603											
PDE1B	5153	broad.mit.edu	37	chr12	54968964	54968964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagtggttggtccacagcCgttggaccaaggccctcatg	13	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:54968964C>T	uc001sgd.1	+	11	1313	c.1147C>T	c.(1147-1149)CGT>TGT	p.R383C	PDE1B_uc010soz.1_Missense_Mutation_p.R246C|PDE1B_uc010spa.1_Missense_Mutation_p.R342C|PDE1B_uc001sgf.2_Missense_Mutation_p.R246C|PDE1B_uc001sge.2_Missense_Mutation_p.R363C|PDE1B_uc009znq.2_Missense_Mutation_p.R179C	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	phosphodiesterase 1B isoform 1	383	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						GGTCCACAGCCGTTGGACCAA	0.587													T	54968964	C	T	54968964	3	4	27	1	0	0	0	0	1	0	0	0	11634	652	23	1	1242	1	PDE1B	12	54968964	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	46835	54968964	78882931	5653	29604											
PPP1R1A	5502	broad.mit.edu	37	chr12	54974788	54974788	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagggttcttttgtgctgggTtccttactgcctctctcgtg	12	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:54974788T>C	uc001sgg.2	-	6	621	c.450A>G	c.(448-450)GAA>GAG	p.E150E		NM_006741	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	150	Interaction with PPP1R15A.				glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity				0						TTGTGCTGGGTTCCTTACTGC	0.537													C	54974788	T	C	54974788	2	2	27	1	0	0	0	0	0	0	0	1	12367	1722	60	3		3	PPP1R1A	12	54974788	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	5824	54974788	78877107	5654	29605											
OR6C74	254783	broad.mit.edu	37	chr12	55641717	55641717	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtattagtgattctctccTacacaaatattatcaggact	6	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:55641717T>C	uc010spg.1	+	1	646	c.646T>C	c.(646-648)TAC>CAC	p.Y216H		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	216	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						GATTCTCTCCTACACAAATAT	0.393													C	55641717	T	C	55641717	3	2	27	1	0	0	0	0	1	0	0	0	11198	1522	53	3	648	3	OR6C74	12	55641717	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	666929	55641717	78210178	5655	29606											
OR6C1	390321	broad.mit.edu	37	chr12	55714599	55714599	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atattagaaatttcgttcacAaccgtcagtatacccaagtt	5	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:55714599A>C	uc010spi.1	+	1	216	c.216A>C	c.(214-216)ACA>ACC	p.T72T		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2						TTTCGTTCACAACCGTCAGTA	0.383													C	55714599	A	C	55714599	2	2	27	1	0	0	0	0	0	0	0	1	11190	117	5	5		5	OR6C1	12	55714599	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	72882	55714599	78137296	5656	29607											
OR6C1	390321	broad.mit.edu	37	chr12	55715169	55715169	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtacattaaaccctcagcAaaagatagagtgtccttgag	8	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:55715169A>G	uc010spi.1	+	1	786	c.786A>G	c.(784-786)GCA>GCG	p.A262A		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2						AACCCTCAGCAAAAGATAGAG	0.438													G	55715169	A	G	55715169	2	3	27	1	0	0	0	0	0	0	0	1	11190	117	5	3		3	OR6C1	12	55715169	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	570	55715169	78136726	5657	29608											
OR6C1	390321	broad.mit.edu	37	chr12	55715233	55715233	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcagtagcccccatgatgAacccctttatttacagccta	5	15	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:55715233A>G	uc010spi.1	+	1	850	c.850A>G	c.(850-852)AAC>GAC	p.N284D		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	284	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2						CCCCATGATGAACCCCTTTAT	0.413													G	55715233	A	G	55715233	3	3	27	1	0	0	0	0	1	0	0	0	11190	246	9	3	852	3	OR6C1	12	55715233	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	64	55715233	78136662	5658	29609											
BLOC1S1	2647	broad.mit.edu	37	chr12	56112932	56112932	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgaggtgaagaccctacaGgtccaggctgcccaatttgc	11	12	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:56112932G>T	uc009zny.1	+	3	292	c.276G>T	c.(274-276)CAG>CAT	p.Q92H	BLOC1S1_uc001shi.2_Missense_Mutation_p.Q64H|BLOC1S1_uc001shj.3_Missense_Mutation_p.Q92H|RDH5_uc010spt.1_5'Flank|RDH5_uc010spu.1_5'Flank|RDH5_uc001shk.2_5'Flank|RDH5_uc001shl.2_5'Flank			P78537	BL1S1_HUMAN	RecName: Full=Biogenesis of lysosome-related organelles complex 1 subunit 1;          Short=BLOC-1 subunit 1; AltName: Full=GCN5-like protein 1; AltName: Full=Protein RT14;	92					cellular membrane organization|melanosome organization|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex|lysosomal membrane	protein binding				0						AGACCCTACAGGTCCAGGCTG	0.577													T	56112932	G	T	56112932	3	4	27	1	0	0	0	0	1	0	0	0	1448	991	35	5	202	5	BLOC1S1	12	56112932	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	397699	56112932	77738963	5659	29610											
RDH5	5959	broad.mit.edu	37	chr12	56115638	56115638	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcccggggccgggtgaTcaacatcaccagcgtcctgg	14	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:56115638T>A	uc001shk.2	+	3	659	c.476T>A	c.(475-477)ATC>AAC	p.I159N	BLOC1S1_uc001shj.3_3'UTR|RDH5_uc010spt.1_Missense_Mutation_p.I159N|RDH5_uc010spu.1_Missense_Mutation_p.I62N|RDH5_uc001shl.2_Missense_Mutation_p.I159N	NM_002905	NP_002896	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis and 9-cis)	159					response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity			ovary(1)	1					NADH(DB00157)|Vitamin A(DB00162)	GGCCGGGTGATCAACATCACC	0.627													A	56115638	T	A	56115638	3	1	27	1	0	0	0	0	1	0	0	0	13195	1435	50	5	482	5	RDH5	12	56115638	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2706	56115638	77736257	5660	29611											
RAB5B	5869	broad.mit.edu	37	chr12	56384499	56384499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcaaagacatgggtgaagGaactacagcgacaggccagt	14	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:56384499G>A	uc001siv.2	+	4	466	c.349G>A	c.(349-351)GAA>AAA	p.E117K	RAB5B_uc001siw.2_Missense_Mutation_p.E117K|RAB5B_uc009zog.2_Missense_Mutation_p.E57K|RAB5B_uc010spz.1_Intron	NM_002868	NP_002859	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	117					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			ATGGGTGAAGGAACTACAGCG	0.483													A	56384499	G	A	56384499	3	1	27	1	0	0	0	0	1	0	0	0	12949	1175	41	4	359	4	RAB5B	12	56384499	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	268861	56384499	77467396	5661	29612											
ERBB3	2065	broad.mit.edu	37	chr12	56478899	56478899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggaagtttgccatcttcGtcatgttgaactataacacc	8	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:56478899G>A	uc001sjh.2	+	3	548	c.355G>A	c.(355-357)GTC>ATC	p.V119I	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V60I|ERBB3_uc001sjg.2_Missense_Mutation_p.V119I	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	119	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGCCATCTTCGTCATGTTGAA	0.562													A	56478899	G	A	56478899	3	1	27	1	0	0	0	0	1	0	0	0	5208	1145	40	1	365	1	ERBB3	12	56478899	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	94400	56478899	77372996	5662	29613											
ERBB3	2065	broad.mit.edu	37	chr12	56493660	56493660	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagcccctgggccagagccCcatggtctgacaaacaagaa	10	13	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:56493660C>A	uc001sjh.2	+	25	3169	c.2976C>A	c.(2974-2976)CCC>CCA	p.P992P	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Silent_p.P349P|ERBB3_uc010sqc.1_Silent_p.P933P|ERBB3_uc009zok.2_Silent_p.P257P|ERBB3_uc001sjk.2_Silent_p.P233P|ERBB3_uc001sjl.2_Silent_p.P112P	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	992	Cytoplasmic (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGCCAGAGCCCCATGGTCTGA	0.517													A	56493660	C	A	56493660	2	1	27	1	0	0	0	0	0	0	0	1	5208	610	22	5		5	ERBB3	12	56493660	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	14761	56493660	77358235	5663	29614											
ESYT1	23344	broad.mit.edu	37	chr12	56526307	56526307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacccatatgcacttgtgCgtttgggtacccagacattc	9	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:56526307C>T	uc001sjq.2	+	9	1137	c.1087C>T	c.(1087-1089)CGT>TGT	p.R363C	ESYT1_uc001sjr.2_Missense_Mutation_p.R363C	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	363	C2 1.					integral to membrane				ovary(4)|skin(1)	5						TGCACTTGTGCGTTTGGGTAC	0.502													T	56526307	C	T	56526307	3	4	27	1	0	0	0	0	1	0	0	0	5264	768	27	1	1121	1	ESYT1	12	56526307	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	32647	56526307	77325588	5664	29615											
ESYT1	23344	broad.mit.edu	37	chr12	56530569	56530569	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgactttaggagcactgacGctgcctctggcccgcctgct	11	15	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:56530569G>A	uc001sjq.2	+	16	1724	c.1674G>A	c.(1672-1674)ACG>ACA	p.T558T	ESYT1_uc001sjr.2_Silent_p.T568T	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	558	C2 2.					integral to membrane				ovary(4)|skin(1)	5						GAGCACTGACGCTGCCTCTGG	0.552													A	56530569	G	A	56530569	2	1	27	1	0	0	0	0	0	0	0	1	5264	1074	38	1		1	ESYT1	12	56530569	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4262	56530569	77321326	5665	29616											
SMARCC2	6601	broad.mit.edu	37	chr12	56559113	56559114	+	Frame_Shift_Ins	INS	-	-	G													acacttaccatggggtccagINSgggggggaacccctggtggg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:56559112_56559113A>AG	uc001skb.3	-	25	3234_3235	c.3128_3129T>CT	c.(3127-3129)cctfs	p.P1043fs	SMARCC2_uc001skd.3_Frame_Shift_Ins_p.P1074fs|SMARCC2_uc001ska.3_Frame_Shift_Ins_p.P1074fs|SMARCC2_uc001skc.3_Frame_Shift_Ins_p.P1073fs|SMARCC2_uc010sqf.2_Frame_Shift_Ins_p.P963fs	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	1043	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CATGGGGTCCAGGGGGGGGAAC	0.574													G	56559114	-	G	56559113	7	5	27	1	0	1	1	0	0	0	0	0	14776	1000	35	0	528	0	SMARCC2	12	56559113	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	28544	56559113	77292782	5666	29617											
SLC39A5	283375	broad.mit.edu	37	chr12	56625260	56625260	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctccacagcctggggctaGgccgagttcaggggcttcgc	14	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:56625260G>T	uc010sqj.1	+	4	459	c.202G>T	c.(202-204)GGC>TGC	p.G68C	SLC39A5_uc010sqi.1_Translation_Start_Site|SLC39A5_uc010sqk.1_Missense_Mutation_p.G68C	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	68	Extracellular (By similarity).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2						CCTGGGGCTAGGCCGAGTTCA	0.637													T	56625260	G	T	56625260	3	4	27	1	0	0	0	0	1	0	0	0	14621	1000	35	5	204	5	SLC39A5	12	56625260	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	66147	56625260	77226635	5667	29618											
SLC39A5	283375	broad.mit.edu	37	chr12	56630717	56630717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaccctgctggccccaggtGctgccttctctgatggcttc	11	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:56630717G>A	uc010sqj.1	+	11	1467	c.1210G>A	c.(1210-1212)GCT>ACT	p.A404T	SLC39A5_uc010sqk.1_Missense_Mutation_p.A404T	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	404	Cytoplasmic (Potential).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2						GGCCCCAGGTGCTGCCTTCTC	0.592													A	56630717	G	A	56630717	3	1	27	1	0	0	0	0	1	0	0	0	14621	1319	46	2	1240	2	SLC39A5	12	56630717	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5457	56630717	77221178	5668	29619											
PAN2	9924	broad.mit.edu	37	chr12	56719213	56719213	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagctgtcaaattcactgTctgactccttgagtctgtag	9	9	4	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:56719213T>C	uc001skx.2	-	9	1758	c.1385A>G	c.(1384-1386)GAC>GGC	p.D462G	PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.D462G|PAN2_uc001sky.2_Missense_Mutation_p.D462G	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	462					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						AAATTCACTGTCTGACTCCTT	0.383													C	56719213	T	C	56719213	3	2	27	1	0	0	0	0	1	0	0	0	11414	1667	58	3	2295	3	PAN2	12	56719213	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	88496	56719213	77132682	5669	29620											
TIMELESS	8914	broad.mit.edu	37	chr12	56811707	56811707	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacctctgttcctgccctcAtcttcttcctgttcctcgtc	4	18	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:56811707A>G	uc001slf.2	-	28	3708	c.3540T>C	c.(3538-3540)GAT>GAC	p.D1180D		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	1180					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						TCCTGCCCTCATCTTCTTCCT	0.468													G	56811707	A	G	56811707	2	3	27	1	0	0	0	0	0	0	0	1	15901	214	8	3		3	TIMELESS	12	56811707	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	92494	56811707	77040188	5670	29621											
TIMELESS	8914	broad.mit.edu	37	chr12	56822332	56822332	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaccaggccagggcctcaCtcttgatgatgcggctgctc	14	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:56822332C>T	uc001slf.2	-	12	1576	c.1408_splice	c.e12+1	p.N470_splice	TIMELESS_uc001slg.2_Splice_Site_p.N469_splice	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog						cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						CAGGGCCTCACTCTTGATGAT	0.542													T	56822332	C	T	56822332	5	4	27	1	0	0	0	0	0	0	1	0	15901	579	20	4	2289	4	TIMELESS	12	56822332	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	10625	56822332	77029563	5671	29622											
TMEM194A	23306	broad.mit.edu	37	chr12	57466637	57466637	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtaacagaattgttggctGgcacgcttttcacaaacttg	10	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:57466637G>A	uc001smy.2	-	2	232	c.186C>T	c.(184-186)GCC>GCT	p.A62A	TMEM194A_uc001smx.2_Silent_p.A62A|TMEM194A_uc010sra.1_5'UTR	NM_001130963	NP_001124435	O14524	T194A_HUMAN	transmembrane protein 194A isoform a	62						integral to membrane					0						ATTGTTGGCTGGCACGCTTTT	0.398													A	57466637	G	A	57466637	2	1	27	1	0	0	0	0	0	0	0	1	16113	1335	47	4		4	TMEM194A	12	57466637	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	644305	57466637	76385258	5672	29623											
LRP1	4035	broad.mit.edu	37	chr12	57550055	57550055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacatctaccaccagaggcGtcagccccgaggtgagcagg	12	15	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:57550055G>A	uc001snd.2	+	9	1872	c.1406G>A	c.(1405-1407)CGT>CAT	p.R469H		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	469	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACCAGAGGCGTCAGCCCCGA	0.617													A	57550055	G	A	57550055	3	1	27	1	0	0	0	0	1	0	0	0	8951	1145	40	1	1440	1	LRP1	12	57550055	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	83418	57550055	76301840	5673	29624											
LRP1	4035	broad.mit.edu	37	chr12	57553773	57553773	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaccccagggctattgtggTggatccactcaatgggtgag	13	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:57553773T>C	uc001snd.2	+	12	2430	c.1964T>C	c.(1963-1965)GTG>GCG	p.V655A		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	655	LDL-receptor class B 5.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCTATTGTGGTGGATCCACTC	0.567													C	57553773	T	C	57553773	3	2	27	1	0	0	0	0	1	0	0	0	8951	1696	59	3	2010	3	LRP1	12	57553773	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3718	57553773	76298122	5674	29625											
LRP1	4035	broad.mit.edu	37	chr12	57561277	57561277	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacctgcaacaatggcagaTgtatcaacatcaactggaga	8	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:57561277T>C	uc001snd.2	+	19	3431	c.2965T>C	c.(2965-2967)TGT>CGT	p.C989R	LRP1_uc009zph.1_RNA|LRP1_uc009zpi.1_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	989	Extracellular (Potential).|LDL-receptor class A 6.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAATGGCAGATGTATCAACAT	0.512													C	57561277	T	C	57561277	3	2	27	1	0	0	0	0	1	0	0	0	8951	1464	51	3	3039	3	LRP1	12	57561277	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	7504	57561277	76290618	5675	29626											
LRP1	4035	broad.mit.edu	37	chr12	57573210	57573210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatctccttcacggtgcccGacatcgacaacgtcacagtg	8	15	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:57573210G>A	uc001snd.2	+	29	5303	c.4837G>A	c.(4837-4839)GAC>AAC	p.D1613N		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1613	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACGGTGCCCGACATCGACAA	0.557													A	57573210	G	A	57573210	3	1	27	1	0	0	0	0	1	0	0	0	8951	1058	37	1	4951	1	LRP1	12	57573210	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	11933	57573210	76278685	5676	29627											
NXPH4	11247	broad.mit.edu	37	chr12	57619127	57619127	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccgggcctgtcccccaccCtctgcagtctacgctcgccc	9	22	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:57619127C>A	uc010srf.1	+	2	699	c.524C>A	c.(523-525)CCT>CAT	p.P175H	NXPH4_uc009zpj.2_5'UTR	NM_007224	NP_009155	O95158	NXPH4_HUMAN	neurexophilin 4 precursor	175	IV (linker domain).				neuropeptide signaling pathway	extracellular region					0						GTCCCCCACCCTCTGCAGTCT	0.716													A	57619127	C	A	57619127	3	1	27	1	0	0	0	0	1	0	0	0	10793	681	24	5	530	5	NXPH4	12	57619127	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	45917	57619127	76232768	5677	29628											
STAC3	246329	broad.mit.edu	37	chr12	57638384	57638384	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccacaaagtaatgagactGctggaagccaggctgcttgt	12	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:57638384G>A	uc001snp.2	-	9	937	c.742C>T	c.(742-744)CAG>TAG	p.Q248*	STAC3_uc009zpl.2_5'UTR|STAC3_uc001snq.2_Nonsense_Mutation_p.Q209*|STAC3_uc010srm.1_Nonsense_Mutation_p.Q62*	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	248	SH3 1.				intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3						TAATGAGACTGCTGGAAGCCA	0.577													A	57638384	G	A	57638384	4	1	27	1	0	0	0	0	0	1	0	0	15240	1328	46	2	368	2	STAC3	12	57638384	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	19257	57638384	76213511	5678	29629											
STAC3	246329	broad.mit.edu	37	chr12	57638744	57638744	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttcttatccccttcaggGtttcctgggataggaaacac	9	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:57638744G>A	uc001snp.2	-	8	870	c.675C>T	c.(673-675)AAC>AAT	p.N225N	STAC3_uc009zpl.2_5'UTR|STAC3_uc001snq.2_Silent_p.N186N|STAC3_uc010srm.1_Silent_p.N39N	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	225					intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3						CCCCTTCAGGGTTTCCTGGGA	0.498													A	57638744	G	A	57638744	2	1	27	1	0	0	0	0	0	0	0	1	15240	1252	44	4		4	STAC3	12	57638744	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	360	57638744	76213151	5679	29630											
STAC3	246329	broad.mit.edu	37	chr12	57638988	57638988	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcctccatcatggctgCtacaggctggagggggcacc	12	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:57638988C>A	uc001snp.2	-	7	805	c.610G>T	c.(610-612)GCA>TCA	p.A204S	STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Missense_Mutation_p.A165S|STAC3_uc010srm.1_Missense_Mutation_p.A18S	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	204					intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3						ATCATGGCTGCTACAGGCTGG	0.527													A	57638988	C	A	57638988	3	1	27	1	0	0	0	0	1	0	0	0	15240	797	28	5	508	5	STAC3	12	57638988	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	244	57638988	76212907	5680	29631											
GLI1	2735	broad.mit.edu	37	chr12	57865375	57865375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgaacacatatggacctgGctttggacccaacttgccca	9	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:57865375G>A	uc001snx.2	+	12	2930	c.2852G>A	c.(2851-2853)GGC>GAC	p.G951D	GLI1_uc009zpq.2_Missense_Mutation_p.G823D	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	951					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			TATGGACCTGGCTTTGGACCC	0.542													A	57865375	G	A	57865375	3	1	27	1	0	0	0	0	1	0	0	0	6437	1203	42	2	2894	2	GLI1	12	57865375	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	226387	57865375	75986520	5681	29632											
ARHGAP9	64333	broad.mit.edu	37	chr12	57873041	57873041	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctttcgaagcagtaggaacCtatccccttcagccagagac	8	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:57873041C>A	uc001sod.2	-	5	555	c.362G>T	c.(361-363)AGG>ATG	p.R121M	ARHGAP9_uc001snz.2_5'Flank|ARHGAP9_uc001soa.2_5'Flank|ARHGAP9_uc001sob.2_Missense_Mutation_p.R50M|ARHGAP9_uc001soc.2_Missense_Mutation_p.R50M|ARHGAP9_uc001soe.1_Missense_Mutation_p.R129M|ARHGAP9_uc010sro.1_Missense_Mutation_p.R50M	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9 isoform 1	50	SH3.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			lung(1)	1			GBM - Glioblastoma multiforme(3;3.37e-34)			CAGTAGGAACCTATCCCCTTC	0.587													A	57873041	C	A	57873041	3	1	27	1	0	0	0	0	1	0	0	0	889	681	24	5	2114	5	ARHGAP9	12	57873041	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	7666	57873041	75978854	5682	29633											
MARS	4141	broad.mit.edu	37	chr12	57908808	57908808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatattcaggtgaatgagcCctggaagcggattaaaggca	12	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:57908808C>T	uc001sog.2	+	17	2194	c.2171C>T	c.(2170-2172)CCC>CTC	p.P724L	MARS_uc001sof.1_RNA|MARS_uc010srq.1_Missense_Mutation_p.P490L|MARS_uc001soh.1_Missense_Mutation_p.P119L	NM_004990	NP_004981	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	724					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			ovary(3)|central_nervous_system(1)|pancreas(1)	5			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GTGAATGAGCCCTGGAAGCGG	0.532													T	57908808	C	T	57908808	3	4	27	1	0	0	0	0	1	0	0	0	9316	623	22	4	2237	4	MARS	12	57908808	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	35767	57908808	75943087	5683	29634											
KIF5A	3798	broad.mit.edu	37	chr12	57963431	57963431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccagaaggagacgattgCgaagctggaggctgagctga	17	8	0	4	rs121434444		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:57963431C>T	uc001sor.1	+	11	1290	c.1082C>T	c.(1081-1083)GCG>GTG	p.A361V	KIF5A_uc010srr.1_Missense_Mutation_p.A272V	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	361			A -> V (in SPG10; does not affect microtubule affinity; does not affect gliding velocity; does not affect microtubule-dependent ATP turnover).		blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3						gagaCGATTGCGAAGCTGGAG	0.418													T	57963431	C	T	57963431	3	4	27	1	0	0	0	0	1	0	0	0	8305	768	27	1	1124	1	KIF5A	12	57963431	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	54623	57963431	75888464	5684	29635											
PIP4K2C	79837	broad.mit.edu	37	chr12	57994595	57994595	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgtcagtgggtctcagtTtctagtgcagctgaagatca	11	7	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:57994595T>C	uc001sou.2	+	8	946	c.815T>C	c.(814-816)TTT>TCT	p.F272S	PIP4K2C_uc001sot.2_Missense_Mutation_p.F272S|PIP4K2C_uc010srs.1_Missense_Mutation_p.F254S|PIP4K2C_uc010srt.1_Missense_Mutation_p.F224S	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	272	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			central_nervous_system(2)|lung(1)	3	Melanoma(17;0.122)					GGGTCTCAGTTTCTAGTGCAG	0.537													C	57994595	T	C	57994595	3	2	27	1	0	0	0	0	1	0	0	0	11938	1855	64	3	845	3	PIP4K2C	12	57994595	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	31164	57994595	75857300	5685	29636											
OS9	10956	broad.mit.edu	37	chr12	58109590	58109590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggggactacatcgatcgCgtggacgagcccttgtcctg	13	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:58109590C>T	uc001spj.2	+	6	686	c.627C>T	c.(625-627)CGC>CGT	p.R209R	OS9_uc010srx.1_Intron|OS9_uc001spk.2_Silent_p.R209R|OS9_uc001spl.2_Silent_p.R209R|OS9_uc001spm.2_Silent_p.R209R|OS9_uc001spn.2_Silent_p.R209R|OS9_uc010sry.1_Silent_p.R176R|OS9_uc010srz.1_Silent_p.R150R	NM_006812	NP_006803	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum	209					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			ovary(1)	1	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			ACATCGATCGCGTGGACGAGC	0.562													T	58109590	C	T	58109590	2	4	27	1	0	0	0	0	0	0	0	1	11272	755	27	1		1	OS9	12	58109590	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	114995	58109590	75742305	5686	29637											
FAM119B	25895	broad.mit.edu	37	chr12	58174222	58174222	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcgtgtacctggaacccacCttccctctgctgctggggac	10	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:58174222C>A	uc001sqg.2	+	3	599	c.474C>A	c.(472-474)ACC>ACA	p.T158T	FAM119B_uc001sqf.2_3'UTR|FAM119B_uc009zqd.2_RNA|TSFM_uc001sqi.2_5'Flank|TSFM_uc010sse.1_5'Flank|TSFM_uc001sqh.2_5'Flank|TSFM_uc010ssf.1_5'Flank	NM_015433	NP_056248	Q96AZ1	MT21B_HUMAN	hypothetical protein LOC25895 isoform a	158	Helical; (Potential).					integral to membrane|intracellular	methyltransferase activity				0	all_cancers(7;9.07e-82)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TGGAACCCACCTTCCCTCTGC	0.582													A	58174222	C	A	58174222	2	1	27	1	0	0	0	0	0	0	0	1	5414	668	24	5		5	FAM119B	12	58174222	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	64632	58174222	75677673	5687	29638											
XRCC6BP1	91419	broad.mit.edu	37	chr12	58335598	58335598	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcccaggggaatccccaGcaagggttcttctccagctt	11	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:58335598G>A	uc001sqp.2	+	1	154	c.114G>A	c.(112-114)CAG>CAA	p.Q38Q		NM_033276	NP_150592	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	38					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			ovary(1)	1						GGAATCCCCAGCAAGGGTTCT	0.542													A	58335598	G	A	58335598	2	1	27	1	0	0	0	0	0	0	0	1	17455	962	34	2		2	XRCC6BP1	12	58335598	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	161376	58335598	75516297	5688	29639											
LRIG3	121227	broad.mit.edu	37	chr12	59282123	59282123	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caactcacagctcactgagcTtctggcagaactcccaggca	8	15	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:59282123T>G	uc001sqr.2	-	7	1181	c.935A>C	c.(934-936)AAG>ACG	p.K312T	LRIG3_uc009zqh.2_Missense_Mutation_p.K252T|LRIG3_uc010ssh.1_RNA	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	312	LRR 11.					integral to membrane				skin(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;1.17e-18)			CTCACTGAGCTTCTGGCAGAA	0.488													G	59282123	T	G	59282123	3	3	27	1	0	0	0	0	1	0	0	0	8946	1609	56	5	2476	5	LRIG3	12	59282123	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	946525	59282123	74569772	5689	29640											
MON2	23041	broad.mit.edu	37	chr12	62949898	62949898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgccgagaagcaatgggCtgagacgtgggtattaacat	13	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:62949898C>T	uc001sre.2	+	25	3726	c.3335C>T	c.(3334-3336)GCT>GTT	p.A1112V	MON2_uc009zqj.2_Missense_Mutation_p.A1112V|MON2_uc010ssl.1_Missense_Mutation_p.A1040V|MON2_uc010ssm.1_Missense_Mutation_p.A1089V|MON2_uc010ssn.1_Missense_Mutation_p.A1112V|MON2_uc001srf.2_Missense_Mutation_p.A875V	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	1113					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AAGCAATGGGCTGAGACGTGG	0.423													T	62949898	C	T	62949898	3	4	27	1	0	0	0	0	1	0	0	0	9700	797	28	2	3433	2	MON2	12	62949898	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3667775	62949898	70901997	5690	29641											
AVPR1A	552	broad.mit.edu	37	chr12	63543968	63543968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcccgtcatccaggtcaCgtaggcacgagaaccccagg	12	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:63543968C>T	uc001sro.1	-	1	2623	c.649G>A	c.(649-651)GTG>ATG	p.V217M		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	217	Extracellular (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	ATCCAGGTCACGTAGGCACGA	0.597													T	63543968	C	T	63543968	3	4	27	1	0	0	0	0	1	0	0	0	1231	536	19	1	615	1	AVPR1A	12	63543968	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	594070	63543968	70307927	5691	29642											
C12orf56	115749	broad.mit.edu	37	chr12	64746772	64746772	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaacggttgaagaatagAtgatacgaatgtgttggctg	12	4	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:64746772A>G	uc001ssa.3	-	2	317	c.317T>C	c.(316-318)ATC>ACC	p.I106T	uc001srx.2_Intron	NM_001099676	NP_001093146	Q8IXR9	CL056_HUMAN	hypothetical protein LOC115749	106											0			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TGAAGAATAGATGATACGAAT	0.333													G	64746772	A	G	64746772	3	3	27	1	0	0	0	0	1	0	0	0	1700	333	12	3	1599	3	C12orf56	12	64746772	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1202804	64746772	69105123	5692	29643											
TBK1	29110	broad.mit.edu	37	chr12	64878159	64878159	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaacttatctacgaagggCgacgcttagtcttagaacct	9	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:64878159C>T	uc001ssc.1	+	9	1131	c.1069C>T	c.(1069-1071)CGA>TGA	p.R357*		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	357	Ubiquitin-like.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5				GBM - Glioblastoma multiforme(28;0.0386)		CTACGAAGGGCGACGCTTAGT	0.373													T	64878159	C	T	64878159	4	4	27	1	0	0	0	0	0	1	0	0	15634	760	27	1	1099	1	TBK1	12	64878159	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	131387	64878159	68973736	5693	29644											
TBK1	29110	broad.mit.edu	37	chr12	64891510	64891510	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaatttatccaagttctaAcacattagtagaaatgactc	4	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:64891510A>G	uc001ssc.1	+	19	2104	c.2042A>G	c.(2041-2043)AAC>AGC	p.N681S		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	681	Potential.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5				GBM - Glioblastoma multiforme(28;0.0386)		CCAAGTTCTAACACATTAGTA	0.348													G	64891510	A	G	64891510	3	3	27	1	0	0	0	0	1	0	0	0	15634	43	2	3	2112	3	TBK1	12	64891510	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	13351	64891510	68960385	5694	29645											
GNS	2799	broad.mit.edu	37	chr12	65110533	65110533	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtcgctacagaagatgTttggaaaatcttcgagtcct	11	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:65110533T>G	uc001ssg.3	-	14	1817	c.1647A>C	c.(1645-1647)AAA>AAC	p.K549N	GNS_uc001ssf.2_Missense_Mutation_p.K493N|GNS_uc010ssq.1_Missense_Mutation_p.K581N|GNS_uc010ssr.1_Missense_Mutation_p.K529N	NM_002076	NP_002067	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase precursor	549						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)	1	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		ACAGAAGATGTTTGGAAAATC	0.478													G	65110533	T	G	65110533	3	3	27	1	0	0	0	0	1	0	0	0	6550	1722	60	5	15	5	GNS	12	65110533	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	219023	65110533	68741362	5695	29646											
CAND1	55832	broad.mit.edu	37	chr12	67691383	67691383	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaaatgattctatgtcaAcaacaagaacctacatacaa	3	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:67691383A>G	uc001stn.2	+	5	1125	c.688A>G	c.(688-690)ACA>GCA	p.T230A	CAND1_uc001sto.2_5'Flank	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	230	HEAT 6.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTCTATGTCAACAACAAGAAC	0.328													G	67691383	A	G	67691383	3	3	27	1	0	0	0	0	1	0	0	0	2615	43	2	3	706	3	CAND1	12	67691383	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2580850	67691383	66160512	5696	29647											
MDM2	4193	broad.mit.edu	37	chr12	69202995	69202995	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttccttgtaggcaaatgTgcaataccaacatgtctgta	7	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:69202995T>C	uc001sui.2	+	2	309	c.22T>C	c.(22-24)TGC>CGC	p.C8R	MDM2_uc009zri.2_Missense_Mutation_p.C8R|MDM2_uc009zqx.2_Missense_Mutation_p.C8R|MDM2_uc009zqw.2_Missense_Mutation_p.C8R|MDM2_uc001suk.2_Missense_Mutation_p.C8R|MDM2_uc009zqy.1_5'UTR|MDM2_uc001sun.3_5'UTR|MDM2_uc009zqz.2_Missense_Mutation_p.C2R|MDM2_uc009zra.2_Missense_Mutation_p.C2R|MDM2_uc009zrb.1_RNA|MDM2_uc001sum.1_5'UTR|MDM2_uc009zrd.2_5'UTR|MDM2_uc009zrc.2_5'UTR|MDM2_uc009zre.2_5'UTR|MDM2_uc009zrf.2_5'UTR|MDM2_uc001suo.2_5'UTR|MDM2_uc009zrg.2_5'UTR|MDM2_uc009zrh.2_5'UTR	NM_002392	NP_002383	Q00987	MDM2_HUMAN	mouse double minute 2 homolog isoform MDM2	2	Necessary for interaction with USP2.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|central_nervous_system(1)	3	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TAGGCAAATGTGCAATACCAA	0.368			A		sarcoma|glioma|colorectal|other								C	69202995	T	C	69202995	3	2	27	1	0	0	0	0	1	0	0	0	9413	1696	59	3	28	3	MDM2	12	69202995	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1511612	69202995	64648900	5697	29648											
LYZ	4069	broad.mit.edu	37	chr12	69742245	69742245	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgttacggtccagggcaaGgtctttgaaaggtgtgagtt	14	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:69742245G>T	uc001suw.2	+	1	112	c.57G>T	c.(55-57)AAG>AAT	p.K19N		NM_000239	NP_000230	P61626	LYSC_HUMAN	lysozyme precursor	19					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding				0	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			TCCAGGGCAAGGTCTTTGAAA	0.498													T	69742245	G	T	69742245	3	4	27	1	0	0	0	0	1	0	0	0	9130	991	35	5	59	5	LYZ	12	69742245	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	539250	69742245	64109650	5698	29649											
FRS2	10818	broad.mit.edu	37	chr12	69968696	69968696	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacgagatgatggtacatcTaggaaaactagacacaatag	9	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:69968696T>C	uc001suy.2	+	10	1998	c.1488T>C	c.(1486-1488)TCT>TCC	p.S496S	FRS2_uc001suz.2_Silent_p.S496S|FRS2_uc009zrj.2_Silent_p.S496S|FRS2_uc009zrk.2_Silent_p.S496S	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	496					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			prostate(1)|kidney(1)	2	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			ATGGTACATCTAGGAAAACTA	0.448													C	69968696	T	C	69968696	2	2	27	1	0	0	0	0	0	0	0	1	6061	1509	53	3		3	FRS2	12	69968696	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	226451	69968696	63883199	5699	29650											
RAB3IP	117177	broad.mit.edu	37	chr12	70149411	70149411	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtattcatcccccagacgtTtaaattgtgcggaaatatct	7	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:70149411T>C	uc001svp.2	+	2	718	c.271T>C	c.(271-273)TTA>CTA	p.L91L	RAB3IP_uc001svl.1_Silent_p.L75L|RAB3IP_uc001svm.2_Silent_p.L75L|RAB3IP_uc001svn.2_Silent_p.L75L|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_Silent_p.L91L|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_RNA	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein isoform alpha 2	91					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CCCCAGACGTTTAAATTGTGC	0.368													C	70149411	T	C	70149411	2	2	27	1	0	0	0	0	0	0	0	1	12938	1838	64	3		3	RAB3IP	12	70149411	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	180715	70149411	63702484	5700	29651											
PTPRR	5801	broad.mit.edu	37	chr12	71050594	71050594	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccctgttctacctattccTgcactgaaaagaaaagaaaa	5	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:71050594T>A	uc001swi.1	-	13	2186	c.1770A>T	c.(1768-1770)GCA>GCT	p.A590A	PTPRR_uc001swf.1_RNA|PTPRR_uc001swg.1_RNA|PTPRR_uc001swh.1_Silent_p.A345A|PTPRR_uc009zrs.2_Silent_p.A439A|PTPRR_uc010stq.1_Silent_p.A478A	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	590	Tyrosine-protein phosphatase.|Cytoplasmic (Potential).|Substrate binding (By similarity).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TACCTATTCCTGCACTGAAAA	0.373													A	71050594	T	A	71050594	2	1	27	1	0	0	0	0	0	0	0	1	12810	1567	55	5		5	PTPRR	12	71050594	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	901183	71050594	62801301	5701	29652											
ZFC3H1	196441	broad.mit.edu	37	chr12	72024378	72024378	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaataggaagtctttaaaaAcctgctgaagcagtaatttc	8	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:72024378A>C	uc001swo.2	-	18	4083	c.3724_splice	c.e18+1	p.E1242_splice		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2						RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						GTCTTTAAAAACCTGCTGAAG	0.308													C	72024378	A	C	72024378	5	2	27	1	0	0	0	0	0	0	1	0	17630	57	2	5	2315	5	ZFC3H1	12	72024378	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	973784	72024378	61827517	5702	29653											
TBC1D15	64786	broad.mit.edu	37	chr12	72265950	72265950	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attacgtgttttagaaaaggTaagtttctagtaaatgattt	8	2	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:72265950T>C	uc001swu.2	+	2	204	c.195_splice	c.e2+2	p.K65_splice	TBC1D15_uc009zrv.2_Splice_Site|TBC1D15_uc010stt.1_Splice_Site_p.K51_splice|TBC1D15_uc001swv.2_Splice_Site_p.K65_splice|TBC1D15_uc001sww.2_Splice_Site	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15 isoform 1								protein binding|Rab GTPase activator activity				0						TTAGAAAAGGTAAGTTTCTAG	0.284													C	72265950	T	C	72265950	5	2	27	1	0	0	0	0	0	0	1	0	15601	1652	57	3	261	3	TBC1D15	12	72265950	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	241572	72265950	61585945	5703	29654											
TBC1D15	64786	broad.mit.edu	37	chr12	72290554	72290554	+	Frame_Shift_Del	DEL	A	A	-													aagaacccaattacaaaagcAaaaaacgtaagtaatggtct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:72290553_72290553CA>C	uc001swu.3	+	9	1207	c.1132_1132CA>C	c.(1132-1134)caafs	p.Q378fs	TBC1D15_uc009zrv.2_Frame_Shift_Del_p.Q262fs|TBC1D15_uc001sww.3_Frame_Shift_Del_p.Q132fs|TBC1D15_uc010stt.2_Frame_Shift_Del_p.Q369fs|TBC1D15_uc001swv.3_Frame_Shift_Del_p.Q361fs	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	Homo sapiens TBC1 domain family, member 15 (TBC1D15), transcript variant 1, mRNA.	378	Rab-GAP TBC.						Rab GTPase activator activity|protein binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATTACAAAAGCAAAAAACGTA	0.373													-	72290554	A	-	72290554	7	5	27	1	0	1	0	1	0	0	0	0	15601	130	5	0	1295	0	TBC1D15	12	72290554	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	24604	72290554	61561341	5704	29655											
TBC1D15	64786	broad.mit.edu	37	chr12	72316783	72316783	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattgccacaagcagtctgTgagatccttgggcttcaagg	12	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:72316783T>C	uc001swu.2	+	18	1950	c.1941T>C	c.(1939-1941)TGT>TGC	p.C647C	TBC1D15_uc010stt.1_Silent_p.C616C|TBC1D15_uc001swv.2_Silent_p.C630C|TBC1D15_uc001sww.2_Silent_p.C379C	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15 isoform 1	625							protein binding|Rab GTPase activator activity				0						AAGCAGTCTGTGAGATCCTTG	0.398													C	72316783	T	C	72316783	2	2	27	1	0	0	0	0	0	0	0	1	15601	1702	59	3		3	TBC1D15	12	72316783	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	26229	72316783	61535112	5705	29656											
TRHDE	29953	broad.mit.edu	37	chr12	72667178	72667178	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggggctgtccctgtagccgGttttttcctctacccgcaaa	10	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:72667178G>T	uc001sxa.2	+	1	650	c.620G>T	c.(619-621)GGT>GTT	p.G207V	LOC283392_uc010stv.1_5'UTR	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	207	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						CCTGTAGCCGGTTTTTTCCTC	0.587													T	72667178	G	T	72667178	3	4	27	1	0	0	0	0	1	0	0	0	16476	1261	44	5	622	5	TRHDE	12	72667178	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	350395	72667178	61184717	5706	29657											
KCNC2	3747	broad.mit.edu	37	chr12	75444651	75444651	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagcaaaaattcattagtActagctcgaagagtatgtcc	8	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:75444651A>G	uc001sxg.1	-	3	1678	c.1134T>C	c.(1132-1134)AGT>AGC	p.S378S	KCNC2_uc009zry.2_Silent_p.S378S|KCNC2_uc001sxe.2_Silent_p.S378S|KCNC2_uc001sxf.2_Silent_p.S378S|KCNC2_uc010stw.1_Silent_p.S378S	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	378	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						ATTCATTAGTACTAGCTCGAA	0.453													G	75444651	A	G	75444651	2	3	27	1	0	0	0	0	0	0	0	1	8015	388	14	3		3	KCNC2	12	75444651	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2777473	75444651	58407244	5707	29658											
OSBPL8	114882	broad.mit.edu	37	chr12	76772266	76772266	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatggcattgtcattacataAtcttcacctctattcaagaa	4	9	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:76772266A>T	uc001sye.1	-	16	2175	c.1695T>A	c.(1693-1695)GAT>GAA	p.D565E	OSBPL8_uc001syf.1_Missense_Mutation_p.D523E|OSBPL8_uc001syg.1_Missense_Mutation_p.D523E|OSBPL8_uc001syh.1_Missense_Mutation_p.D540E	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	565					lipid transport		lipid binding			ovary(1)	1						TCATTACATAATCTTCACCTC	0.294													T	76772266	A	T	76772266	3	4	27	1	0	0	0	0	1	0	0	0	11283	98	4	5	1010	5	OSBPL8	12	76772266	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1327615	76772266	57079629	5708	29659											
CSRP2	1466	broad.mit.edu	37	chr12	77259935	77259935	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggagagctacttactgcagaGaaagcagcagcggtggaagc	15	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:77259935G>C	uc001syl.1	-	2	189	c.106C>G	c.(106-108)CTC>GTC	p.L36V		NM_001321	NP_001312	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	36	LIM zinc-binding 1.				multicellular organismal development	nucleus	zinc ion binding			ovary(1)	1						TTACTGCAGAGAAAGCAGCAG	0.493													C	77259935	G	C	77259935	3	2	27	1	0	0	0	0	1	0	0	0	3967	942	33	5	495	5	CSRP2	12	77259935	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	487669	77259935	56591960	5709	29660											
E2F7	144455	broad.mit.edu	37	chr12	77449736	77449736	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggctggcagcactaatgaGcatcttcaggttagctgtgg	14	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:77449736G>T	uc001sym.3	-	3	504	c.268C>A	c.(268-270)CTC>ATC	p.L90I	E2F7_uc001syn.2_Missense_Mutation_p.L90I	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	90					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						GCACTAATGAGCATCTTCAGG	0.438													T	77449736	G	T	77449736	3	4	27	1	0	0	0	0	1	0	0	0	4872	971	34	5	2511	5	E2F7	12	77449736	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	189801	77449736	56402159	5710	29661											
E2F7	144455	broad.mit.edu	37	chr12	77449893	77449893	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcggggccatccttgatcgAtcaacaaatatattttccta	6	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:77449893A>T	uc001sym.3	-	3	347	c.111T>A	c.(109-111)GAT>GAA	p.D37E	E2F7_uc001syn.2_Missense_Mutation_p.D37E	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	37					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						TCCTTGATCGATCAACAAATA	0.333													T	77449893	A	T	77449893	3	4	27	1	0	0	0	0	1	0	0	0	4872	330	12	5	2668	5	E2F7	12	77449893	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	157	77449893	56402002	5711	29662											
NAV3	89795	broad.mit.edu	37	chr12	78400806	78400806	+	Frame_Shift_Del	DEL	A	A	-													caggtgacagagatggctccAaaaaagacctccaaaattgc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:78400805_78400805CA>C	uc001syp.3	+	7	1660	c.1487_1487CA>C	c.(1486-1488)ccafs	p.P496fs	NAV3_uc001syo.3_Frame_Shift_Del_p.P496fs	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	496						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.A495P(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAGATGGCTCCAAAAAAGACC	0.413										HNSCC(70;0.22)			-	78400806	A	-	78400806	7	5	27	1	0	1	0	1	0	0	0	0	10185	117	5	0	1518	0	NAV3	12	78400806	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	950913	78400806	55451089	5712	29663											
NAV3	89795	broad.mit.edu	37	chr12	78400965	78400965	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggcagcacagcaagcaaAgagtctgagaaattcaggac	11	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:78400965A>G	uc001syp.2	+	8	1820	c.1647A>G	c.(1645-1647)AAA>AAG	p.K549K	NAV3_uc001syo.2_Silent_p.K549K	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	549						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CAGCAAGCAAAGAGTCTGAGA	0.463										HNSCC(70;0.22)			G	78400965	A	G	78400965	2	3	27	1	0	0	0	0	0	0	0	1	10185	69	3	3		3	NAV3	12	78400965	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	159	78400965	55450930	5713	29664											
NAV3	89795	broad.mit.edu	37	chr12	78516145	78516145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtctggactgaccacagGcactcacgaggtccagagcc	11	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:78516145G>A	uc001syp.2	+	16	4348	c.4175G>A	c.(4174-4176)GGC>GAC	p.G1392D	NAV3_uc001syo.2_Missense_Mutation_p.G1392D|NAV3_uc010sub.1_Missense_Mutation_p.G892D|NAV3_uc009zsf.2_Intron	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1392	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CTGACCACAGGCACTCACGAG	0.547										HNSCC(70;0.22)			A	78516145	G	A	78516145	3	1	27	1	0	0	0	0	1	0	0	0	10185	1203	42	2	4237	2	NAV3	12	78516145	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	115180	78516145	55335750	5714	29665											
NAV3	89795	broad.mit.edu	37	chr12	78570943	78570943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaagttctttcaaacaagCctttgggaagaaaaagtcca	9	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:78570943C>T	uc001syp.2	+	27	5320	c.5147C>T	c.(5146-5148)GCC>GTC	p.A1716V	NAV3_uc001syo.2_Missense_Mutation_p.A1716V|NAV3_uc010sub.1_Missense_Mutation_p.A1195V|NAV3_uc009zsf.2_Missense_Mutation_p.A547V	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1716						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TTCAAACAAGCCTTTGGGAAG	0.438										HNSCC(70;0.22)			T	78570943	C	T	78570943	3	4	27	1	0	0	0	0	1	0	0	0	10185	739	26	2	5253	2	NAV3	12	78570943	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	54798	78570943	55280952	5715	29666											
PPFIA2	8499	broad.mit.edu	37	chr12	81676792	81676792	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatatgaatctcctacctgGgcccagcttccttcctcaga	7	15	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:81676792G>A	uc001szo.1	-	26	3176	c.3015C>T	c.(3013-3015)GCC>GCT	p.A1005A	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_Intron|PPFIA2_uc009zsh.2_Intron	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	910										ovary(3)|lung(2)|pancreas(1)	6						CTCCTACCTGGGCCCAGCTTC	0.308													A	81676792	G	A	81676792	2	1	27	1	0	0	0	0	0	0	0	1	12310	1219	43	4		4	PPFIA2	12	81676792	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3105849	81676792	52175103	5716	29667											
PPFIA2	8499	broad.mit.edu	37	chr12	81833805	81833805	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagagactctttctaaagaAaccctcagtcgctcccttac	6	14	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:81833805A>G	uc001szo.1	-	7	752	c.591T>C	c.(589-591)GTT>GTC	p.V197V	PPFIA2_uc010sue.1_Silent_p.V97V|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_Intron|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	123										ovary(3)|lung(2)|pancreas(1)	6						TTTCTAAAGAAACCCTCAGTC	0.408													G	81833805	A	G	81833805	2	3	27	1	0	0	0	0	0	0	0	1	12310	1	1	3		3	PPFIA2	12	81833805	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	157013	81833805	52018090	5717	29668											
TMTC2	160335	broad.mit.edu	37	chr12	83251004	83251004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgcatgcagcagtcactgGtctcttcacaagcttctcca	8	13	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:83251004G>A	uc001szt.2	+	2	731	c.299G>A	c.(298-300)GGT>GAT	p.G100D	TMTC2_uc001szr.1_Missense_Mutation_p.G100D|TMTC2_uc001szs.1_Missense_Mutation_p.G100D|TMTC2_uc010suk.1_Intron	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	100	Helical; (Potential).					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						GCAGTCACTGGTCTCTTCACA	0.507													A	83251004	G	A	83251004	3	1	27	1	0	0	0	0	1	0	0	0	16258	1261	44	4	305	4	TMTC2	12	83251004	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1417199	83251004	50600891	5718	29669											
TMTC2	160335	broad.mit.edu	37	chr12	83526060	83526060	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagaaggccgaggccaaCtacctgcgggccctgcagct	12	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:83526060C>T	uc001szt.2	+	12	2835	c.2403C>T	c.(2401-2403)AAC>AAT	p.N801N	TMTC2_uc010suk.1_Silent_p.N556N	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	801	TPR 10.					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						CCGAGGCCAACTACCTGCGGG	0.498													T	83526060	C	T	83526060	2	4	27	1	0	0	0	0	0	0	0	1	16258	564	20	4		4	TMTC2	12	83526060	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	275056	83526060	50325835	5719	29670											
LRRIQ1	84125	broad.mit.edu	37	chr12	85449486	85449486	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctatcaaaaatatggcccAattattaaagagcaaattga	6	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:85449486A>G	uc001tac.2	+	8	1026	c.915A>G	c.(913-915)CCA>CCG	p.P305P	LRRIQ1_uc001tab.1_Silent_p.P305P|LRRIQ1_uc001taa.1_Silent_p.P280P	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	305	IQ 1.|Glu-rich.									ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		AATATGGCCCAATTATTAAAG	0.164													G	85449486	A	G	85449486	2	3	27	1	0	0	0	0	0	0	0	1	9029	117	5	3		3	LRRIQ1	12	85449486	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1923426	85449486	48402409	5720	29671											
RASSF9	9182	broad.mit.edu	37	chr12	86198897	86198897	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttccgcatcttcatttatAtcaatgcaaacactttttac	2	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:86198897A>G	uc001taf.1	-	2	1230	c.891T>C	c.(889-891)GAT>GAC	p.D297D		NM_005447	NP_005438	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family	297					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			ovary(1)	1						CTTCATTTATATCAATGCAAA	0.373													G	86198897	A	G	86198897	2	3	27	1	0	0	0	0	0	0	0	1	13093	446	16	3		3	RASSF9	12	86198897	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	749411	86198897	47652998	5721	29672											
CEP290	80184	broad.mit.edu	37	chr12	88454773	88454773	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttccacttctaccagacTacgaaagaatatgttaaatc	4	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:88454773T>C	uc001tar.2	-	47	6702	c.6358_splice	c.e47-1	p.S2120_splice	CEP290_uc001taq.2_Splice_Site_p.S1180_splice	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa						cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						TCTACCAGACTACGAAAGAAT	0.289													C	88454773	T	C	88454773	5	2	27	1	0	0	0	0	0	0	1	0	3253	1536	53	3	1115	3	CEP290	12	88454773	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2255876	88454773	45397122	5722	29673											
CEP290	80184	broad.mit.edu	37	chr12	88478501	88478501	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggttccatctcttttctgccTagctcagctatgagcttttc	7	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:88478501T>A	uc001tar.2	-	35	4910	c.4566A>T	c.(4564-4566)CTA>CTT	p.L1522L	CEP290_uc001taq.2_Silent_p.L582L	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1522					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						CTTTTCTGCCTAGCTCAGCTA	0.388													A	88478501	T	A	88478501	2	1	27	1	0	0	0	0	0	0	0	1	3253	1509	53	5		5	CEP290	12	88478501	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	23728	88478501	45373394	5723	29674											
CEP290	80184	broad.mit.edu	37	chr12	88483134	88483134	+	Missense_Mutation	SNP	T	T	A													gtttctgctctaagcgcaagTtgtaggcctccatcttctgc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:88483134T>A	uc001tar.2	-	31	4048	c.3704A>T	c.(3703-3705)AAC>ATC	p.N1235I	CEP290_uc001taq.2_Missense_Mutation_p.N295I	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1235	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						TAAGCGCAAGTTGTAGGCCTC	0.428													A	88483134	T	A	88483134	3	1	27	1	0	0	0	0	1	0	0	0	3253	1725	60	5	3831	5	CEP290	12	88483134	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4633	88483134	45368761	5724	29675	100	2									
CEP290	80184	broad.mit.edu	37	chr12	88483141	88483141	+	Missense_Mutation	SNP	C	C	T													ctctaagcgcaagttgtaggCctccatcttctgcagtttag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:88483141C>T	uc001tar.2	-	31	4041	c.3697G>A	c.(3697-3699)GCC>ACC	p.A1233T	CEP290_uc001taq.2_Missense_Mutation_p.A293T	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1233	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						AAGTTGTAGGCCTCCATCTTC	0.438													T	88483141	C	T	88483141	3	4	27	1	0	0	0	0	1	0	0	0	3253	739	26	2	3838	2	CEP290	12	88483141	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	7	88483141	45368754	5725	29676	100	2									
TMTC3	160418	broad.mit.edu	37	chr12	88584371	88584371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaagcaataagcatgaggCccgacttcaagcaggcttac	10	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:88584371C>T	uc001tau.2	+	12	1898	c.1678C>T	c.(1678-1680)CCC>TCC	p.P560S		NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat	560	TPR 4.					integral to membrane	binding			skin(1)	1						AAGCATGAGGCCCGACTTCAA	0.418													T	88584371	C	T	88584371	3	4	27	1	0	0	0	0	1	0	0	0	16259	739	26	2	1720	2	TMTC3	12	88584371	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	101230	88584371	45267524	5726	29677											
GALNT4	8693	broad.mit.edu	37	chr12	89917838	89917840	+	In_Frame_Del	DEL	AGG	AGG	-													atctctttcaaaagaactgcAggagaagtttctaaaacact							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:89917837_89917839CAGG>C	uc001tbd.3	-	0	745_747	c.488_490CCTG>G	c.(487-492)cctgca>cGca	p.163_164PA>R	GALNT4_uc001tba.3_Intron|GALNT4_uc001tbb.3_Intron|GALNT4_uc010sun.2_Intron|GALNT4_uc001tbc.3_Intron|GALNT4_uc001tbe.3_In_Frame_Del_p.160_161PA>R|GALNT4_uc010suo.2_Intron	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) (GALNT4), mRNA.	163	Catalytic subdomain A.				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						AAAAGAACTGCAGGAGAAGTTTC	0.399											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	89917840	AGG	-	89917838	7	5	27	1	0	1	0	1	0	0	0	0	6215	175	7	0	1251	0	GALNT4	12	89917838	In_Frame_Del	DEL	AGG	TCGA-BR-6452-01A-12D-1800-08	1333467	89917838	43934057	5727	29678											
GALNT4	8693	broad.mit.edu	37	chr12	89917932	89917932	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaggtggtaggaagtgtcCtatagttgaacttctgggac	14	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:89917932C>A	uc001tbd.2	-	1	604	c.395G>T	c.(394-396)AGG>ATG	p.R132M	POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Missense_Mutation_p.R129M|GALNT4_uc010suo.1_Intron	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	132	Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0						AGGAAGTGTCCTATAGTTGAA	0.418											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	89917932	C	A	89917932	3	1	27	1	0	0	0	0	1	0	0	0	6215	681	24	5	1345	5	GALNT4	12	89917932	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	94	89917932	43933963	5728	29679											
ATP2B1	490	broad.mit.edu	37	chr12	89997947	89997947	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacttgagtaatgcaggcGcccgtaaaagcaacaatcac	8	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:89997947G>A	uc001tbh.2	-	15	2800	c.2619C>T	c.(2617-2619)GGC>GGT	p.G873G	ATP2B1_uc001tbg.2_Silent_p.G873G|ATP2B1_uc001tbf.2_Silent_p.G543G	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	873	Extracellular (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						TAATGCAGGCGCCCGTAAAAG	0.328													A	89997947	G	A	89997947	2	1	27	1	0	0	0	0	0	0	0	1	1139	1074	38	1		1	ATP2B1	12	89997947	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	80015	89997947	43853948	5729	29680											
DCN	1634	broad.mit.edu	37	chr12	91539849	91539849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaattacttatagtttcCgagttgaatggcagagcgca	11	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:91539849C>T	uc001tbs.2	-	7	1160	c.1066G>A	c.(1066-1068)GGA>AGA	p.G356R	DCN_uc001tbo.2_Missense_Mutation_p.G247R|DCN_uc001tbp.2_Missense_Mutation_p.G209R|DCN_uc001tbq.2_Missense_Mutation_p.G169R|DCN_uc001tbr.2_3'UTR|DCN_uc001tbt.2_Missense_Mutation_p.G356R|DCN_uc001tbu.2_Missense_Mutation_p.G356R	NM_133503	NP_598010	P07585	PGS2_HUMAN	decorin isoform a preproprotein	356	LRR 12.				organ morphogenesis	extracellular space				central_nervous_system(2)|ovary(1)|lung(1)	4						TTATAGTTTCCGAGTTGAATG	0.398													T	91539849	C	T	91539849	3	4	27	1	0	0	0	0	1	0	0	0	4297	661	23	1	17	1	DCN	12	91539849	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1541902	91539849	42312046	5730	29681											
TMCC3	57458	broad.mit.edu	37	chr12	94975728	94975728	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctaaggaatttttcaagTgagcaatgttgtcggcgctg	11	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:94975728T>C	uc001tdj.2	-	2	783	c.665A>G	c.(664-666)CAC>CGC	p.H222R	TMCC3_uc001tdi.2_Missense_Mutation_p.H191R	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	222						integral to membrane				ovary(1)|skin(1)	2						ATTTTTCAAGTGAGCAATGTT	0.512													C	94975728	T	C	94975728	3	2	27	1	0	0	0	0	1	0	0	0	15991	1696	59	3	780	3	TMCC3	12	94975728	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3435879	94975728	38876167	5731	29682											
VEZT	55591	broad.mit.edu	37	chr12	95656842	95656842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaacactttgctccctggCaacccctaatatttggtact	5	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:95656842C>T	uc001tdz.2	+	4	524	c.419C>T	c.(418-420)GCA>GTA	p.A140V	VEZT_uc009zsy.1_Intron|VEZT_uc001tdr.2_Intron|VEZT_uc001tds.2_Missense_Mutation_p.A92V|VEZT_uc001tdt.2_Missense_Mutation_p.A92V|VEZT_uc009zsz.1_Missense_Mutation_p.A140V|VEZT_uc001tdv.2_Missense_Mutation_p.A109V|VEZT_uc001tdw.1_Missense_Mutation_p.A92V|VEZT_uc009zta.1_Missense_Mutation_p.A92V	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane	140	Helical; (Potential).					acrosomal vesicle|adherens junction|integral to membrane|nucleus				ovary(1)	1						TGCTCCCTGGCAACCCCTAAT	0.448													T	95656842	C	T	95656842	3	4	27	1	0	0	0	0	1	0	0	0	17153	710	25	2	433	2	VEZT	12	95656842	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	681114	95656842	38195053	5732	29683											
VEZT	55591	broad.mit.edu	37	chr12	95668625	95668625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagatttcagaagaggaagCacataactttacagatggct	10	7	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:95668625C>T	uc001tdz.2	+	7	1061	c.956C>T	c.(955-957)GCA>GTA	p.A319V	VEZT_uc009ztb.1_RNA|VEZT_uc009ztc.1_5'UTR|VEZT_uc001tdy.2_RNA	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane	319						acrosomal vesicle|adherens junction|integral to membrane|nucleus				ovary(1)	1						GAAGAGGAAGCACATAACTTT	0.433													T	95668625	C	T	95668625	3	4	27	1	0	0	0	0	1	0	0	0	17153	710	25	2	982	2	VEZT	12	95668625	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	11783	95668625	38183270	5733	29684											
CCDC38	120935	broad.mit.edu	37	chr12	96288811	96288811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttgctttactttttgatGcctgtgctctttttagtgct	7	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:96288811G>A	uc001tek.1	-	8	962	c.728C>T	c.(727-729)GCA>GTA	p.A243V		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	243										skin(1)	1						ACTTTTTGATGCCTGTGCTCT	0.338													A	96288811	G	A	96288811	3	1	27	1	0	0	0	0	1	0	0	0	2810	1319	46	2	999	2	CCDC38	12	96288811	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	620186	96288811	37563084	5734	29685											
ELK3	2004	broad.mit.edu	37	chr12	96641029	96641030	+	Frame_Shift_Ins	INS	-	-	C													aggagccgcccgaagacagcINSccccccgtggaagaagtcag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:96641028_96641029G>GC	uc001teo.1	+	2	797_798	c.518_519G>GC	c.(517-519)agcfs	p.S173fs		NM_005230	NP_005221	P41970	ELK3_HUMAN	Homo sapiens ELK3, ETS-domain protein (SRF accessory protein 2) (ELK3), mRNA.	173					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.V176fs*14(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CCCGAAGACAGCCCCCCCGTGG	0.579													C	96641030	-	C	96641029	7	5	27	1	0	1	1	0	0	0	0	0	5060	738	26	0	525	0	ELK3	12	96641029	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	352218	96641029	37210866	5735	29686											
GOLGA2B	55592	broad.mit.edu	37	chr12	100551023	100551023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctggctctggtacagtgCgatgtactctcctgcaggag	12	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:100551023C>T	uc001tgs.2	-	5	746	c.302G>A	c.(301-303)CGC>CAC	p.R101H	GOLGA2B_uc001tgt.2_RNA|GOLGA2B_uc001tgu.2_Missense_Mutation_p.R101H|uc001tgv.1_5'Flank|uc001tgx.2_5'Flank	NM_017600	NP_060070			golgi autoantigen, golgin subfamily a, 2-like 1												0						TGGTACAGTGCGATGTACTCT	0.617													T	100551023	C	T	100551023	3	4	27	1	0	0	0	0	1	0	0	0	6553	768	27	1	140	1	GOLGA2B	12	100551023	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3909994	100551023	33300872	5736	29687											
SCYL2	55681	broad.mit.edu	37	chr12	100729611	100729611	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattgacaaagtttttaacaAcattggagcagaccttctga	7	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:100729611A>G	uc001thn.2	+	16	2002	c.1952A>G	c.(1951-1953)AAC>AGC	p.N651S	SCYL2_uc001thm.1_Missense_Mutation_p.N651S	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 protein	651					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			lung(3)|ovary(2)|skin(1)	6						GTTTTTAACAACATTGGAGCA	0.338													G	100729611	A	G	100729611	3	3	27	1	0	0	0	0	1	0	0	0	13948	43	2	3	2010	3	SCYL2	12	100729611	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	178588	100729611	33122284	5737	29688											
SLC17A8	246213	broad.mit.edu	37	chr12	100813785	100813785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcaaccatgagagttttGcgagtcccaaaaagaagatg	9	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:100813785G>A	uc010svi.1	+	12	1931	c.1618G>A	c.(1618-1620)GCG>ACG	p.A540T	SLC17A8_uc009ztx.2_Missense_Mutation_p.A490T	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	540	Cytoplasmic (Potential).				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3						TGAGAGTTTTGCGAGTCCCAA	0.478													A	100813785	G	A	100813785	3	1	27	1	0	0	0	0	1	0	0	0	14423	1319	46	2	1664	2	SLC17A8	12	100813785	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	84174	100813785	33038110	5738	29689											
ANO4	121601	broad.mit.edu	37	chr12	101295596	101295596	+	Frame_Shift_Del	DEL	A	A	-													tcttctggaatcactaatggAaaaaccaaagtcttccaccc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:101295595_101295595GA>G	uc010svm.1	+	1	604	c.32_32GA>G	c.(31-33)ggafs	p.G11fs	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Frame_Shift_Del_p.G11fs|ANO4_uc001thx.2_Frame_Shift_Del_p.G11fs	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	11						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ATCACTAATGGAAAAACCAAA	0.493										HNSCC(74;0.22)			-	101295596	A	-	101295596	7	5	27	1	0	1	0	1	0	0	0	0	699	233	9	0	35	0	ANO4	12	101295596	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	481811	101295596	32556299	5739	29690											
ANO4	121601	broad.mit.edu	37	chr12	101336299	101336299	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acattagagcagaaggattgCaaatggagaaagaggtaaat	12	3	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:101336299C>A	uc010svm.1	+	5	1014	c.442C>A	c.(442-444)CAA>AAA	p.Q148K	ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.Q113K|ANO4_uc001thx.2_Missense_Mutation_p.Q148K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	148	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						AGAAGGATTGCAAATGGAGAA	0.343										HNSCC(74;0.22)			A	101336299	C	A	101336299	3	1	27	1	0	0	0	0	1	0	0	0	699	711	25	5	347	5	ANO4	12	101336299	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	40703	101336299	32515596	5740	29691											
SLC5A8	160728	broad.mit.edu	37	chr12	101603516	101603516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttggaggtctgctggccGcccccagcgaaggcgtagta	14	13	1	0	rs141426258	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:101603516G>A	uc001thz.3	-	1	501	c.111C>T	c.(109-111)GGC>GGT	p.G37G		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	37	Cytoplasmic (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						TCTGCTGGCCGCCCCCAGCGA	0.657													A	101603516	G	A	101603516	2	1	27	1	0	0	0	0	0	0	0	1	14671	1074	38	1		1	SLC5A8	12	101603516	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	267217	101603516	32248379	5741	29692											
UTP20	27340	broad.mit.edu	37	chr12	101693535	101693535	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtattggaccatcttttatcTataattaagttacccccaaa	4	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:101693535T>A	uc001tia.1	+	13	1662	c.1506T>A	c.(1504-1506)TCT>TCA	p.S502S		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	502					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						ATCTTTTATCTATAATTAAGT	0.338													A	101693535	T	A	101693535	2	1	27	1	0	0	0	0	0	0	0	1	17096	1509	53	5		5	UTP20	12	101693535	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	90019	101693535	32158360	5742	29693											
UTP20	27340	broad.mit.edu	37	chr12	101713323	101713323	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgttttgtttttgtttagGcaattaattgctcatttgca	7	5	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:101713323G>T	uc001tia.1	+	23	2895	c.2739G>T	c.(2737-2739)AAG>AAT	p.K913N		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	913					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						TTTTGTTTAGGCAATTAATTG	0.303													T	101713323	G	T	101713323	3	4	27	1	0	0	0	0	1	0	0	0	17096	1217	42	5	2829	5	UTP20	12	101713323	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	19788	101713323	32138572	5743	29694											
UTP20	27340	broad.mit.edu	37	chr12	101773254	101773254	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagccagaggagcttattcAaaaatggaataccaaaaaga	8	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:101773254A>G	uc001tia.1	+	57	7658	c.7502A>G	c.(7501-7503)CAA>CGA	p.Q2501R		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2501					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						GAGCTTATTCAAAAATGGAAT	0.458													G	101773254	A	G	101773254	3	3	27	1	0	0	0	0	1	0	0	0	17096	130	5	3	7728	3	UTP20	12	101773254	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	59931	101773254	32078641	5744	29695											
UTP20	27340	broad.mit.edu	37	chr12	101779776	101779776	+	Frame_Shift_Del	DEL	A	A	-													atcctgatattgctgccaagAaaaaaatgaagaaacacaaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:101779775_101779775GA>G	uc001tia.1	+	61	8388	c.8232_8232GA>G	c.(8230-8232)aagfs	p.K2744fs		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	2744	Nuclear localization signal.|Nucleolar localization signal.				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			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTGCTGCCAAGAAAAAAATGA	0.308													-	101779776	A	-	101779776	7	5	27	1	0	1	0	1	0	0	0	0	17096	247	9	0	8479	0	UTP20	12	101779776	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	6522	101779776	32072119	5745	29696											
CHPT1	56994	broad.mit.edu	37	chr12	102108316	102108316	+	Silent	SNP	C	C	A													ggagcttcaattgccgctcgCttaggaacttatcctgactg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:102108316C>A	uc001tin.2	+	3	679	c.456C>A	c.(454-456)CGC>CGA	p.R152R	CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Silent_p.R152R	NM_020244	NP_064629	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	152					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding				0						TTGCCGCTCGCTTAGGAACTT	0.348													A	102108316	C	A	102108316	2	1	27	1	0	0	0	0	0	0	0	1	3370	784	28	5		5	CHPT1	12	102108316	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	328540	102108316	31743579	5746	29697	101	2									
CHPT1	56994	broad.mit.edu	37	chr12	102108321	102108321	+	Missense_Mutation	SNP	G	G	A													ttcaattgccgctcgcttagGaacttatcctgactggtttt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:102108321G>A	uc001tin.2	+	3	684	c.461G>A	c.(460-462)GGA>GAA	p.G154E	CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Missense_Mutation_p.G154E	NM_020244	NP_064629	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	154	Helical; (Potential).				platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding				0						GCTCGCTTAGGAACTTATCCT	0.348													A	102108321	G	A	102108321	3	1	27	1	0	0	0	0	1	0	0	0	3370	1174	41	4	471	4	CHPT1	12	102108321	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5	102108321	31743574	5747	29698	101	2									
GNPTAB	79158	broad.mit.edu	37	chr12	102151087	102151087	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctcccatgatttcaaAcctaattatcaaaacatatt	1	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:102151087A>C	uc001tit.2	-	18	3516	c.3337T>G	c.(3337-3339)TTT>GTT	p.F1113V		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	1113					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2						ATGATTTCAAACCTAATTATC	0.299													C	102151087	A	C	102151087	3	2	27	1	0	0	0	0	1	0	0	0	6545	57	2	5	449	5	GNPTAB	12	102151087	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	42766	102151087	31700808	5748	29699											
GNPTAB	79158	broad.mit.edu	37	chr12	102158708	102158708	+	Frame_Shift_Del	DEL	C	C	-													aatatcctcaaaaaggatttCcgcctctggaagaagtgtta							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:102158707_102158707TC>T	uc001tit.3	-	12	2180	c.1988_1988GA>A	c.(1987-1989)gaafs	p.E663fs		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (GNPTAB), mRNA.	663					cell differentiation	Golgi membrane|integral to membrane|nucleus	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity|metal ion binding|transcription factor binding	p.E663G(2)|p.A662A(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AAAAAGGATTTCCGCCTCTGG	0.443													-	102158708	C	-	102158708	7	5	27	1	0	1	0	1	0	0	0	0	6545	864	30	0	1819	0	GNPTAB	12	102158708	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	7621	102158708	31693187	5749	29700											
CCDC53	51019	broad.mit.edu	37	chr12	102439888	102439888	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttggatacgaagtgaaaggtCtgccagtttctgtaaaagaa	11	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:102439888C>T	uc010svw.1	-	3	319	c.160G>A	c.(160-162)GAC>AAC	p.D54N	CCDC53_uc010svx.1_RNA|CCDC53_uc010svy.1_RNA|CCDC53_uc010svz.1_Missense_Mutation_p.D54N	NM_016053	NP_057137	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	54	Potential.					WASH complex	protein binding				0						AGTGAAAGGTCTGCCAGTTTC	0.279													T	102439888	C	T	102439888	3	4	27	1	0	0	0	0	1	0	0	0	2823	913	32	4	375	4	CCDC53	12	102439888	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	281180	102439888	31412007	5750	29701											
NT5DC3	51559	broad.mit.edu	37	chr12	104179252	104179252	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agccatgctttagggtcaaaTcctgatcacaaagatcacga	8	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:104179252T>A	uc010swe.1	-	12	1231	c.1190A>T	c.(1189-1191)GAT>GTT	p.D397V		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	397							hydrolase activity|metal ion binding			ovary(2)|skin(1)	3						TAGGGTCAAATCCTGATCACA	0.403													A	104179252	T	A	104179252	3	1	27	1	0	0	0	0	1	0	0	0	10692	1449	50	5	468	5	NT5DC3	12	104179252	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1739364	104179252	29672643	5751	29702											
TDG	6996	broad.mit.edu	37	chr12	104373771	104373771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaaaaagaaaagtagaccGttttaatggtgtttcagaag	10	3	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:104373771G>A	uc001tkg.2	+	3	552	c.329G>A	c.(328-330)CGT>CAT	p.R110H	TDG_uc010swh.1_Missense_Mutation_p.R110H|TDG_uc009zuk.2_Missense_Mutation_p.R106H|TDG_uc010swi.1_5'UTR|TDG_uc010swj.1_5'UTR	NM_003211	NP_003202	Q13569	TDG_HUMAN	thymine-DNA glycosylase	110					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			ovary(3)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AAAGTAGACCGTTTTAATGGT	0.343								BER_DNA_glycosylases					A	104373771	G	A	104373771	3	1	27	1	0	0	0	0	1	0	0	0	15722	1145	40	1	339	1	TDG	12	104373771	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	194519	104373771	29478124	5752	29703											
HCFC2	29915	broad.mit.edu	37	chr12	104473374	104473374	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attctggaagtcctaaaatgTatgtttttggtggaatgtgt	11	3	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:104473374T>C	uc001tkj.3	+	4	728	c.625T>C	c.(625-627)TAT>CAT	p.Y209H	HCFC2_uc009zul.2_RNA	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	209	Kelch 3.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			ovary(2)|central_nervous_system(1)	3						TCCTAAAATGTATGTTTTTGG	0.428													C	104473374	T	C	104473374	3	2	27	1	0	0	0	0	1	0	0	0	6993	1638	57	3	639	3	HCFC2	12	104473374	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	99603	104473374	29378521	5753	29704											
TXNRD1	7296	broad.mit.edu	37	chr12	104682799	104682799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacagagaaagataggcgGccatggtccaaccttgaagg	13	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:104682799G>A	uc010swk.1	+	4	417	c.395G>A	c.(394-396)GGC>GAC	p.G132D	TXNRD1_uc010swl.1_5'UTR|TXNRD1_uc010swm.1_Missense_Mutation_p.G34D|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_5'UTR|TXNRD1_uc010swq.1_Missense_Mutation_p.G32D|TXNRD1_uc001tku.2_RNA|TXNRD1_uc001tko.1_RNA|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_5'Flank	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN	thioredoxin reductase 1 isoform 3	132	Glutaredoxin.				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity				0						AAGATAGGCGGCCATGGTCCA	0.542													A	104682799	G	A	104682799	3	1	27	1	0	0	0	0	1	0	0	0	16804	1203	42	2	423	2	TXNRD1	12	104682799	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	209425	104682799	29169096	5754	29705											
EID3	493861	broad.mit.edu	37	chr12	104697736	104697736	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagatggatgtgtcagtgagGgccgcgggctgctccgacga	17	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:104697736G>T	uc001tkw.2	+	1	188	c.24G>T	c.(22-24)AGG>AGT	p.R8S	TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0						TGTCAGTGAGGGCCGCGGGCT	0.647													T	104697736	G	T	104697736	3	4	27	1	0	0	0	0	1	0	0	0	4989	1223	43	5	26	5	EID3	12	104697736	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	14937	104697736	29154159	5755	29706											
CHST11	50515	broad.mit.edu	37	chr12	105151226	105151226	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgcaaaggggacgatgTcaaattcgaggagtttgtgg	15	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:105151226T>A	uc001tkx.1	+	4	995	c.704T>A	c.(703-705)GTC>GAC	p.V235D	CHST11_uc001tky.2_Missense_Mutation_p.V230D|uc001tkz.2_5'Flank	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	carbohydrate sulfotransferase 11	235	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity				0						GGGGACGATGTCAAATTCGAG	0.562													A	105151226	T	A	105151226	3	1	27	1	0	0	0	0	1	0	0	0	3399	1667	58	5	714	5	CHST11	12	105151226	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	453490	105151226	28700669	5756	29707											
SLC41A2	84102	broad.mit.edu	37	chr12	105199107	105199107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcagcaatccacagcaaGgtaaatacctagaagagaac	8	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:105199107G>A	uc001tla.2	-	10	1712	c.1545C>T	c.(1543-1545)ACC>ACT	p.T515T		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	solute carrier family 41, member 2	515	Helical; (Potential).					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			ovary(1)|skin(1)	2						TCCACAGCAAGGTAAATACCT	0.502													A	105199107	G	A	105199107	2	1	27	1	0	0	0	0	0	0	0	1	14630	987	35	4		4	SLC41A2	12	105199107	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	47881	105199107	28652788	5757	29708											
CKAP4	10970	broad.mit.edu	37	chr12	106632882	106632882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatctagtaaacccttggCtgattccagattgttctcgt	8	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:106632882C>T	uc001tlk.2	-	2	1813	c.1729G>A	c.(1729-1731)GCC>ACC	p.A577T		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	577	Potential.					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0						AAACCCTTGGCTGATTCCAGA	0.458													T	106632882	C	T	106632882	3	4	27	1	0	0	0	0	1	0	0	0	3444	797	28	2	83	2	CKAP4	12	106632882	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1433775	106632882	27219013	5758	29709											
CKAP4	10970	broad.mit.edu	37	chr12	106632988	106632988	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctccacttggctgactgaGgctttcaggttgtctagaga	12	10	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:106632988G>T	uc001tlk.2	-	2	1707	c.1623C>A	c.(1621-1623)GCC>GCA	p.A541A		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	541	Potential.					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0						GGCTGACTGAGGCTTTCAGGT	0.537													T	106632988	G	T	106632988	2	4	27	1	0	0	0	0	0	0	0	1	3444	987	35	5		5	CKAP4	12	106632988	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	106	106632988	27218907	5759	29710											
CKAP4	10970	broad.mit.edu	37	chr12	106633214	106633214	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaccgtgctggccaggccaTcctggtctgcctctgaggac	12	15	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:106633214T>A	uc001tlk.2	-	2	1481	c.1397A>T	c.(1396-1398)GAT>GTT	p.D466V		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	466						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0						GGCCAGGCCATCCTGGTCTGC	0.692													A	106633214	T	A	106633214	3	1	27	1	0	0	0	0	1	0	0	0	3444	1435	50	5	415	5	CKAP4	12	106633214	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	226	106633214	27218681	5760	29711											
TCP11L2	255394	broad.mit.edu	37	chr12	106729566	106729566	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taaataatagttacttgaaaCtgttacagtgggattatcag	8	4	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:106729566C>G	uc001tln.2	+	7	1096	c.922C>G	c.(922-924)CTG>GTG	p.L308V		NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	308										ovary(3)	3						TTACTTGAAACTGTTACAGTG	0.373													G	106729566	C	G	106729566	3	3	27	1	0	0	0	0	1	0	0	0	15712	564	20	5	944	5	TCP11L2	12	106729566	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	96352	106729566	27122329	5761	29712											
POLR3B	55703	broad.mit.edu	37	chr12	106821127	106821127	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaatggcatggtgaatgcTatttctaccgtaagtcttca	8	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:106821127T>C	uc001tlp.2	+	13	1476	c.1254T>C	c.(1252-1254)GCT>GCC	p.A418A	POLR3B_uc001tlq.2_Silent_p.A360A	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	418					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						TGGTGAATGCTATTTCTACCG	0.393													C	106821127	T	C	106821127	2	2	27	1	0	0	0	0	0	0	0	1	12229	1509	53	3		3	POLR3B	12	106821127	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	91561	106821127	27030768	5762	29713											
RFX4	5992	broad.mit.edu	37	chr12	107103144	107103144	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgaaagtttgccaagcaactGgatgagtggctaaaagtggc	13	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:107103144G>T	uc001tlr.2	+	9	936	c.870G>T	c.(868-870)CTG>CTT	p.L290L	RFX4_uc010swv.1_RNA|RFX4_uc001tls.2_Silent_p.L299L|RFX4_uc001tlt.2_Silent_p.L299L|RFX4_uc001tlv.2_Silent_p.L196L	NM_213594	NP_998759	Q33E94	RFX4_HUMAN	regulatory factor X4 isoform c	290					transcription, DNA-dependent	nucleus	DNA binding			upper_aerodigestive_tract(1)	1						CCAAGCAACTGGATGAGTGGC	0.463													T	107103144	G	T	107103144	2	4	27	1	0	0	0	0	0	0	0	1	13265	1335	47	5		5	RFX4	12	107103144	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	282017	107103144	26748751	5763	29714											
RFX4	5992	broad.mit.edu	37	chr12	107155091	107155091	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccctcagccaacacgtgCtacacaagcccgtctgtgca	9	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:107155091C>T	uc001tlr.2	+	18	2118	c.2052C>T	c.(2050-2052)TGC>TGT	p.C684C	RFX4_uc001tlt.2_Silent_p.C693C|RFX4_uc001tlv.2_Silent_p.C590C	NM_213594	NP_998759	Q33E94	RFX4_HUMAN	regulatory factor X4 isoform c	684					transcription, DNA-dependent	nucleus	DNA binding			upper_aerodigestive_tract(1)	1						CCAACACGTGCTACACAAGCC	0.542													T	107155091	C	T	107155091	2	4	27	1	0	0	0	0	0	0	0	1	13265	805	28	2		2	RFX4	12	107155091	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	51947	107155091	26696804	5764	29715											
CRY1	1407	broad.mit.edu	37	chr12	107415864	107415864	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatatttttcaaattacctTgaaaagcctgggaaacacat	5	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:107415864T>C	uc001tmi.3	-	2	1124	c.265A>G	c.(265-267)AAG>GAG	p.K89E		NM_004075	NP_004066	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	89	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			ovary(3)	3						CAAATTACCTTGAAAAGCCTG	0.328													C	107415864	T	C	107415864	3	2	27	1	0	0	0	0	1	0	0	0	3903	1821	63	3	1539	3	CRY1	12	107415864	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	260773	107415864	26436031	5765	29716											
BTBD11	121551	broad.mit.edu	37	chr12	108011113	108011113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagtttgctgttggagcgtGgtgccgatcccctgatagga	14	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:108011113G>A	uc001tmk.1	+	9	2652	c.2131G>A	c.(2131-2133)GGT>AGT	p.G711S	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Missense_Mutation_p.G711S|BTBD11_uc001tml.1_Missense_Mutation_p.G248S	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	711	ANK 3.					integral to membrane	DNA binding			skin(2)|ovary(1)	3						GTTGGAGCGTGGTGCCGATCC	0.478													A	108011113	G	A	108011113	3	1	27	1	0	0	0	0	1	0	0	0	1539	1348	47	4	2270	4	BTBD11	12	108011113	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	595249	108011113	25840782	5766	29717											
FICD	11153	broad.mit.edu	37	chr12	108912565	108912565	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccatcacatctaccacacAgtggccatcgagggcaacac	7	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:108912565A>G	uc001tmx.1	+	3	836	c.690A>G	c.(688-690)ACA>ACG	p.T230T		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Huntingtin interacting protein E	230					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity				0						TCTACCACACAGTGGCCATCG	0.587													G	108912565	A	G	108912565	2	3	27	1	0	0	0	0	0	0	0	1	5887	175	7	3		3	FICD	12	108912565	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	901452	108912565	24939330	5767	29718											
CORO1C	23603	broad.mit.edu	37	chr12	109046095	109046095	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcccctcttgggcatgtaAcccatccctctctgaggctc	8	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:109046095A>G	uc001tnj.2	-	8	1050	c.954T>C	c.(952-954)GGT>GGC	p.G318G	CORO1C_uc009zva.2_Silent_p.G371G|CORO1C_uc010sxf.1_Silent_p.G281G	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C isoform 1	318					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			skin(3)	3						TGGGCATGTAACCCATCCCTC	0.458													G	109046095	A	G	109046095	2	3	27	1	0	0	0	0	0	0	0	1	3755	30	2	3		3	CORO1C	12	109046095	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	133530	109046095	24805800	5768	29719											
SSH1	54434	broad.mit.edu	37	chr12	109182581	109182581	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcttcatatctttcttgggtGacgattcttcctttattacc	6	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:109182581G>A	uc001tnm.2	-	15	2420	c.2333C>T	c.(2332-2334)TCA>TTA	p.S778L	SSH1_uc001tnl.2_Missense_Mutation_p.S466L	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	778					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4						TTTCTTGGGTGACGATTCTTC	0.478													A	109182581	G	A	109182581	3	1	27	1	0	0	0	0	1	0	0	0	15183	1294	45	4	820	4	SSH1	12	109182581	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	136486	109182581	24669314	5769	29720											
USP30	84749	broad.mit.edu	37	chr12	109519161	109519161	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgttcgatttgatacctTtgatagcctttcactaagta	6	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:109519161T>C	uc010sxi.1	+	8	847	c.743T>C	c.(742-744)TTT>TCT	p.F248S	USP30_uc001tnu.3_Missense_Mutation_p.F217S|USP30_uc001tnw.3_5'Flank	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	248	Cytoplasmic (Potential).				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(1)	1						TTTGATACCTTTGATAGCCTT	0.358													C	109519161	T	C	109519161	3	2	27	1	0	0	0	0	1	0	0	0	17058	1841	64	3	773	3	USP30	12	109519161	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	336580	109519161	24332734	5770	29721											
ACACB	32	broad.mit.edu	37	chr12	109604775	109604775	+	Frame_Shift_Del	DEL	G	G	-													ctgagtttgtcacacgctttGggggggatcgggtcatcgag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:109604774_109604774TG>T	uc001tob.3	+	2	881	c.762_762TG>T	c.(760-762)tttfs	p.F254fs	ACACB_uc001toc.3_Frame_Shift_Del_p.F254fs	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	254					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCACACGCTTTGGGGGGGATC	0.617													-	109604775	G	-	109604775	7	5	27	1	0	1	0	1	0	0	0	0	107	1348	47	0	769	0	ACACB	12	109604775	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	85614	109604775	24247120	5771	29722											
ACACB	32	broad.mit.edu	37	chr12	109625968	109625968	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccgggaagaggccatttcGtcagtatctccttccttcct	8	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:109625968G>A	uc001tob.2	+	13	2263	c.2144_splice	c.e13+1	p.S715_splice	ACACB_uc001toc.2_Splice_Site_p.S715_splice	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta						acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	AGGCCATTTCGTCAGTATCtc	0.308													A	109625968	G	A	109625968	5	1	27	1	0	0	0	0	0	0	1	0	107	1159	40	1	2191	1	ACACB	12	109625968	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	21193	109625968	24225927	5772	29723											
MYO1H	283446	broad.mit.edu	37	chr12	109845668	109845668	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcaaaggctgtttatggaCgaacgtttacttggctggtc	13	7	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:109845668C>T	uc010sxn.1	+	9	1057	c.1057C>T	c.(1057-1059)CGA>TGA	p.R353*		NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0						TGTTTATGGACGAACGTTTAC	0.438													T	109845668	C	T	109845668	4	4	27	1	0	0	0	0	0	1	0	0	10075	528	19	1	1091	1	MYO1H	12	109845668	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	219700	109845668	24006227	5773	29724											
UBE3B	89910	broad.mit.edu	37	chr12	109945425	109945425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcatttatctgtgagctcGggccccacggagggttaaag	15	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:109945425G>A	uc001top.2	+	15	2110	c.1507G>A	c.(1507-1509)GGG>AGG	p.G503R	UBE3B_uc001toq.2_Missense_Mutation_p.G503R|UBE3B_uc001tos.2_5'Flank|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.G503R	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	503					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						CTGTGAGCTCGGGCCCCACGG	0.498													A	109945425	G	A	109945425	3	1	27	1	0	0	0	0	1	0	0	0	16877	1116	39	1	1557	1	UBE3B	12	109945425	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	99757	109945425	23906470	5774	29725											
GIT2	9815	broad.mit.edu	37	chr12	110427530	110427530	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggattagctttacgtcttccActcataatagacgcagggtc	9	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:110427530A>G	uc001tps.2	-	3	429	c.264T>C	c.(262-264)AGT>AGC	p.S88S	GIT2_uc001tpq.2_Silent_p.S88S|GIT2_uc001tpv.2_Silent_p.S88S|GIT2_uc001tpu.2_Silent_p.S88S|GIT2_uc001tpt.2_Silent_p.S88S|GIT2_uc010sxu.1_Silent_p.S26S|GIT2_uc001tpw.2_Silent_p.S88S|GIT2_uc010sxv.1_Silent_p.S88S	NM_057169	NP_476510	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting	88	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			central_nervous_system(1)	1						TACGTCTTCCACTCATAATAG	0.398													G	110427530	A	G	110427530	2	3	27	1	0	0	0	0	0	0	0	1	6397	156	6	3		3	GIT2	12	110427530	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	482105	110427530	23424365	5775	29726											
ANKRD13A	88455	broad.mit.edu	37	chr12	110456152	110456152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacacttctctcctccagtgCccttggtttctagaatatgc	6	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:110456152C>T	uc001tpx.2	+	5	662	c.403C>T	c.(403-405)CCC>TCC	p.P135S	ANKRD13A_uc009zvl.1_RNA|ANKRD13A_uc009zvm.1_Missense_Mutation_p.P135S|ANKRD13A_uc010sxw.1_Missense_Mutation_p.P135S	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13	135											0						TCCTCCAGTGCCCTTGGTTTC	0.448													T	110456152	C	T	110456152	3	4	27	1	0	0	0	0	1	0	0	0	641	739	26	2	421	2	ANKRD13A	12	110456152	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	28622	110456152	23395743	5776	29727											
IFT81	28981	broad.mit.edu	37	chr12	110566827	110566827	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgctccactggcttcttcaGaggactaatgaactgaagaa	10	9	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:110566827G>A	uc001tqi.2	+	4	451	c.321G>A	c.(319-321)CAG>CAA	p.Q107Q	IFT81_uc001tqh.2_Silent_p.Q107Q|IFT81_uc001tqj.2_RNA|IFT81_uc001tqg.2_Silent_p.Q107Q	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81-like isoform 1	107					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1						GGCTTCTTCAGAGGACTAATG	0.398													A	110566827	G	A	110566827	2	1	27	1	0	0	0	0	0	0	0	1	7565	933	33	4		4	IFT81	12	110566827	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	110675	110566827	23285068	5777	29728											
PPTC7	160760	broad.mit.edu	37	chr12	110977634	110977634	+	Frame_Shift_Del	DEL	T	T	-													ttgagttaattacctttaacTtttttagctcctgaagaatc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:110977633_110977633CT>C	uc001trh.1	-	3	948	c.720_720AG>G	c.(718-720)aagfs	p.K240fs		NM_139283	NP_644812	Q8NI37	PPTC7_HUMAN	Homo sapiens PTC7 protein phosphatase homolog (S. cerevisiae) (PPTC7), mRNA.	240	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						TTACCTTTAACTTTTTTAGCT	0.408													-	110977634	T	-	110977634	7	5	27	1	0	1	0	1	0	0	0	0	12413	1609	56	0	207	0	PPTC7	12	110977634	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	410807	110977634	22874261	5778	29729											
HVCN1	84329	broad.mit.edu	37	chr12	111089064	111089064	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagccggagcagaatcaGcaggcccagagcctcaaact	10	15	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:111089064G>A	uc001trs.1	-	6	766	c.601C>T	c.(601-603)CTG>TTG	p.L201L	HVCN1_uc001trq.1_Silent_p.L201L|HVCN1_uc001trt.1_Silent_p.L201L|HVCN1_uc010syd.1_Silent_p.L181L	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	201	Helical; Name=Segment S4; (By similarity).				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			skin(1)	1						AGCAGAATCAGCAGGCCCAGA	0.587													A	111089064	G	A	111089064	2	1	27	1	0	0	0	0	0	0	0	1	7462	962	34	2		2	HVCN1	12	111089064	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	111430	111089064	22762831	5779	29730											
PPP1CC	5501	broad.mit.edu	37	chr12	111160421	111160423	+	In_Frame_Del	DEL	AAG	AAG	-													tcagaccacaaaagatcacaAagaagaccttgatctggtac							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:111160420_111160422AAAG>A	uc001tru.3	-	4	873_875	c.602_604CTTT>T	c.(601-606)ctttgt>cTgt	p.C202del	PPP1CC_uc021rdx.1_In_Frame_Del_p.C202del	NM_002710	NP_002701	P36873	PP1G_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, gamma isozyme (PPP1CC), transcript variant 1, mRNA.	202					cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process	MLL5-L complex|PTW/PP1 phosphatase complex|cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|nuclear speck|nucleolus	metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|large_intestine(2)|lung(3)	6						AAAAGATCACAAAGAAGACCTTG	0.414													-	111160423	AAG	-	111160421	7	5	27	1	0	1	0	1	0	0	0	0	12351	1	1	0	380	0	PPP1CC	12	111160421	In_Frame_Del	DEL	AAG	TCGA-BR-6452-01A-12D-1800-08	71357	111160421	22691474	5780	29731											
CCDC63	160762	broad.mit.edu	37	chr12	111317857	111317857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagaaaaccatgaacttgGccattgagcaatcttctcag	8	9	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:111317857G>A	uc001trv.1	+	6	832	c.637G>A	c.(637-639)GCC>ACC	p.A213T	CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_Missense_Mutation_p.A173T|CCDC63_uc001trw.1_Missense_Mutation_p.A128T	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	213										skin(6)|ovary(1)|pancreas(1)	8						CATGAACTTGGCCATTGAGCA	0.517													A	111317857	G	A	111317857	3	1	27	1	0	0	0	0	1	0	0	0	2834	1203	42	2	655	2	CCDC63	12	111317857	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	157436	111317857	22534038	5781	29732											
ATXN2	6311	broad.mit.edu	37	chr12	111956197	111956197	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccccaggatatgacttctcTatttctttgtccaggaggaa	8	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:111956197T>C	uc001tsj.2	-	9	1663	c.1501A>G	c.(1501-1503)AGA>GGA	p.R501G	ATXN2_uc001tsh.2_Missense_Mutation_p.R236G|ATXN2_uc001tsi.2_Missense_Mutation_p.R212G|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Missense_Mutation_p.R236G	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	501					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						ATGACTTCTCTATTTCTTTGT	0.418													C	111956197	T	C	111956197	3	2	27	1	0	0	0	0	1	0	0	0	1211	1530	53	3	2508	3	ATXN2	12	111956197	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	638340	111956197	21895698	5782	29733											
C12orf51	283450	broad.mit.edu	37	chr12	112707608	112707608	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcccgaccgtcgaatgatgtCtcgattcctttcagtttgtg	9	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:112707608C>T	uc009zwc.2	-	6	943	c.925G>A	c.(925-927)GAC>AAC	p.D309N	C12orf51_uc010syk.1_Missense_Mutation_p.D132N|C12orf51_uc001tts.2_Missense_Mutation_p.D132N|C12orf51_uc001ttt.3_Missense_Mutation_p.D132N	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CGAATGATGTCTCGATTCCTT	0.403													T	112707608	C	T	112707608	3	4	27	1	0	0	0	0	1	0	0	0	1696	913	32	4	11321	4	C12orf51	12	112707608	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	751411	112707608	21144287	5783	29734											
C12orf51	283450	broad.mit.edu	37	chr12	112708191	112708191	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggttggtggcaagaagattgAgttggtgtatgcacatcgca	15	5	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:112708191A>T	uc009zwc.2	-	5	737	c.719T>A	c.(718-720)CTC>CAC	p.L240H	C12orf51_uc010syk.1_Missense_Mutation_p.L63H|C12orf51_uc001tts.2_Missense_Mutation_p.L63H|C12orf51_uc001ttt.3_Missense_Mutation_p.L63H	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						AAGAAGATTGAGTTGGTGTAT	0.423													T	112708191	A	T	112708191	3	4	27	1	0	0	0	0	1	0	0	0	1696	304	11	5	11531	5	C12orf51	12	112708191	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	583	112708191	21143704	5784	29735											
PTPN11	5781	broad.mit.edu	37	chr12	112891074	112891074	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaacatggtagttttctTgtacgagagagccagagcca	12	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:112891074T>C	uc001ttx.2	+	4	788	c.408T>C	c.(406-408)CTT>CTC	p.L136L	PTPN11_uc001ttw.1_Silent_p.L136L	NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	136	SH2 2.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392						GTAGTTTTCTTGTACGAGAGA	0.408			Mis		JMML|AML|MDS		Noonan Syndrome		Noonan_syndrome				C	112891074	T	C	112891074	2	2	27	1	0	0	0	0	0	0	0	1	12780	1799	63	3		3	PTPN11	12	112891074	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	182883	112891074	20960821	5785	29736											
RPH3A	22895	broad.mit.edu	37	chr12	113307841	113307841	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagactccagccggagcccaGcaggtgagcaagatgggcaa	15	11	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:113307841G>T	uc010syl.1	+	10	1155	c.793G>T	c.(793-795)GCA>TCA	p.A265S	RPH3A_uc001ttz.2_Missense_Mutation_p.A265S|RPH3A_uc001tty.2_Missense_Mutation_p.A261S|RPH3A_uc009zwe.1_Missense_Mutation_p.A261S|RPH3A_uc010sym.1_Missense_Mutation_p.A216S|RPH3A_uc001tua.2_Missense_Mutation_p.A25S	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	265	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CCGGAGCCCAGCAGGTGAGCA	0.507													T	113307841	G	T	113307841	3	4	27	1	0	0	0	0	1	0	0	0	13551	971	34	5	823	5	RPH3A	12	113307841	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	416767	113307841	20544054	5786	29737											
OAS3	4940	broad.mit.edu	37	chr12	113379524	113379524	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcgctggaatcctggtgGcagaacccagtccctggtct	12	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:113379524G>A	uc001tug.2	+	2	414	c.327G>A	c.(325-327)TGG>TGA	p.W109*	OAS3_uc001tue.2_Nonsense_Mutation_p.W109*|OAS3_uc001tuf.2_Nonsense_Mutation_p.W109*	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	109	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1						AATCCTGGTGGCAGAACCCAG	0.587													A	113379524	G	A	113379524	4	1	27	1	0	0	0	0	0	1	0	0	10801	1212	42	2	333	2	OAS3	12	113379524	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	71683	113379524	20472371	5787	29738											
DTX1	1840	broad.mit.edu	37	chr12	113496081	113496081	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcccgggtggtggtgtgGgagtggctgaatgagcacag	21	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:113496081G>A	uc001tuk.1	+	1	420	c.84G>A	c.(82-84)TGG>TGA	p.W28*		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	28	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						TGGTGGTGTGGGAGTGGCTGA	0.667													A	113496081	G	A	113496081	4	1	27	1	0	0	0	0	0	1	0	0	4793	1241	43	4	86	4	DTX1	12	113496081	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	116557	113496081	20355814	5788	29739											
DDX54	79039	broad.mit.edu	37	chr12	113599747	113599749	+	In_Frame_Del	DEL	TCT	TCT	-													gcggccgctctctgtcttaaTcttcttcttgtcttcctgtc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:113599746_113599748ATCT>A	uc001tuq.4	-	17	2278_2280	c.2250_2252AGAT>T	c.(2248-2253)aagatt>aaTt	p.750_751KI>N	DDX54_uc001tup.3_In_Frame_Del_p.750_751KI>N	NM_001111322	NP_001104792	Q8TDD1	DDX54_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 (DDX54), transcript variant 1, mRNA.	750					RNA processing|estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|estrogen receptor binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTCTGTCTTAATCTTCTTCTTGT	0.606													-	113599749	TCT	-	113599747	7	5	27	1	0	1	0	1	0	0	0	0	4372	1435	50	0	409	0	DDX54	12	113599747	In_Frame_Del	DEL	TCT	TCGA-BR-6452-01A-12D-1800-08	103666	113599747	20252148	5789	29740											
DDX54	79039	broad.mit.edu	37	chr12	113603808	113603808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccacactctgtggcacccGacccagcatgccatccacac	6	20	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:113603808G>A	uc001tup.2	-	13	1472	c.1444C>T	c.(1444-1446)CGG>TGG	p.R482W	DDX54_uc001tuq.3_Missense_Mutation_p.R482W	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	482					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						TGTGGCACCCGACCCAGCATG	0.657													A	113603808	G	A	113603808	3	1	27	1	0	0	0	0	1	0	0	0	4372	1057	37	1	1236	1	DDX54	12	113603808	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4061	113603808	20248087	5790	29741											
C12orf52	84934	broad.mit.edu	37	chr12	113629143	113629143	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccacaccccgtcttactgtGatgagtcgctgtttggctcc	10	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:113629143G>A	uc001tur.1	+	4	799	c.331G>A	c.(331-333)GAT>AAT	p.D111N	C12orf52_uc009zwg.1_Missense_Mutation_p.D108N|C12orf52_uc001tus.1_Missense_Mutation_p.D111N|C12orf52_uc001tut.1_Missense_Mutation_p.D135N	NM_032848	NP_116237	Q96K30	RITA_HUMAN	hypothetical protein LOC84934	111					negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding				0						GTCTTACTGTGATGAGTCGCT	0.592													A	113629143	G	A	113629143	3	1	27	1	0	0	0	0	1	0	0	0	1697	1290	45	4	337	4	C12orf52	12	113629143	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	25335	113629143	20222752	5791	29742											
IQCD	115811	broad.mit.edu	37	chr12	113633490	113633490	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcagggagcgcaccagatAgcccttccatagggcctgga	14	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:113633490A>G	uc001tuu.2	-	3	1106	c.934T>C	c.(934-936)TAT>CAT	p.Y312H		NM_138451	NP_612460	Q96DY2	IQCD_HUMAN	IQ motif containing D	Error:Variant_position_missing_in_Q96DY2_after_alignment										ovary(1)	1						CGCACCAGATAGCCCTTCCAT	0.383													G	113633490	A	G	113633490	3	3	27	1	0	0	0	0	1	0	0	0	7805	420	15	3	113	3	IQCD	12	113633490	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4347	113633490	20218405	5792	29743											
SDSL	113675	broad.mit.edu	37	chr12	113874657	113874657	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaggacaccgaggctgTgagcgctgtgcagcagctcc	17	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:113874657T>C	uc001tvi.2	+	8	983	c.773T>C	c.(772-774)GTG>GCG	p.V258A	SDSL_uc009zwh.2_Missense_Mutation_p.V258A	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN	serine dehydratase-like	258					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding				0					Pyridoxal Phosphate(DB00114)	ACCGAGGCTGTGAGCGCTGTG	0.602													C	113874657	T	C	113874657	3	2	27	1	0	0	0	0	1	0	0	0	13976	1696	59	3	795	3	SDSL	12	113874657	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	241167	113874657	19977238	5793	29744											
LHX5	64211	broad.mit.edu	37	chr12	113906051	113906051	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcttggccttgatggTggtgcgggggccgcgccgct	18	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:113906051T>C	uc001tvj.1	-	3	1130	c.556A>G	c.(556-558)ACC>GCC	p.T186A		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	186	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GCCTTGATGGTGGTGCGGGGG	0.677													C	113906051	T	C	113906051	3	2	27	1	0	0	0	0	1	0	0	0	8774	1696	59	3	664	3	LHX5	12	113906051	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	31394	113906051	19945844	5794	29745											
RBM19	9904	broad.mit.edu	37	chr12	114364873	114364873	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actcacttccttcagcttctCttctgttgtgtcaaaattga	5	11	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:114364873C>A	uc009zwi.2	-	17	2374	c.2230G>T	c.(2230-2232)GAG>TAG	p.E744*	RBM19_uc001tvn.3_Nonsense_Mutation_p.E744*|RBM19_uc001tvm.2_Nonsense_Mutation_p.E744*	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	744	RRM 5.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TTCAGCTTCTCTTCTGTTGTG	0.408													A	114364873	C	A	114364873	4	1	27	1	0	0	0	0	0	1	0	0	13121	922	32	5	684	5	RBM19	12	114364873	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	458822	114364873	19487022	5795	29746											
RBM19	9904	broad.mit.edu	37	chr12	114377843	114377843	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgatggcagtgattccgccCtctggcagcagcacgcggcc	13	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:114377843C>A	uc009zwi.2	-	15	2004	c.1860G>T	c.(1858-1860)GAG>GAT	p.E620D	RBM19_uc001tvn.3_Missense_Mutation_p.E620D|RBM19_uc001tvm.2_Missense_Mutation_p.E620D	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	620	RRM 4.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TGATTCCGCCCTCTGGCAGCA	0.647													A	114377843	C	A	114377843	3	1	27	1	0	0	0	0	1	0	0	0	13121	680	24	5	1062	5	RBM19	12	114377843	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	12970	114377843	19474052	5796	29747											
RBM19	9904	broad.mit.edu	37	chr12	114397977	114397977	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccccgaatgacttgcagaActccacctgtgtgggaaaga	11	11	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:114397977A>G	uc009zwi.2	-	3	370	c.226T>C	c.(226-228)TTC>CTC	p.F76L	RBM19_uc001tvn.3_Missense_Mutation_p.F76L|RBM19_uc001tvm.2_Missense_Mutation_p.F76L	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	76	RRM 1.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GACTTGCAGAACTCCACCTGT	0.577													G	114397977	A	G	114397977	3	3	27	1	0	0	0	0	1	0	0	0	13121	43	2	3	2744	3	RBM19	12	114397977	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	20134	114397977	19453918	5797	29748											
TBX5	6910	broad.mit.edu	37	chr12	114837433	114837433	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cactttgtaactgggaaacaTccgcctaagagagagggacg	12	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:114837433T>A	uc001tvo.2	-	4	742	c.247A>T	c.(247-249)ATG>TTG	p.M83L	TBX5_uc001tvp.2_Missense_Mutation_p.M83L|TBX5_uc001tvq.2_Missense_Mutation_p.M33L|TBX5_uc010syv.1_Missense_Mutation_p.M83L	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	83	T-box.				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CTGGGAAACATCCGCCTAAGA	0.473													A	114837433	T	A	114837433	3	1	27	1	0	0	0	0	1	0	0	0	15658	1435	50	5	1400	5	TBX5	12	114837433	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	439456	114837433	19014462	5798	29749											
MED13L	23389	broad.mit.edu	37	chr12	116445236	116445236	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttattctttttcagggaatCtttctccgtcccttgtttgc	6	11	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:116445236C>A	uc001tvw.2	-	11	2273	c.2218G>T	c.(2218-2220)GAT>TAT	p.D740Y		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	740					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTCAGGGAATCTTTCTCCGTC	0.403													A	116445236	C	A	116445236	3	1	27	1	0	0	0	0	1	0	0	0	9431	913	32	5	4498	5	MED13L	12	116445236	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1607803	116445236	17406659	5799	29750											
MED13L	23389	broad.mit.edu	37	chr12	116446399	116446399	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgacctctgccatgagagGcagtctttggcctacgagga	13	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:116446399G>T	uc001tvw.2	-	10	1874	c.1819C>A	c.(1819-1821)CCT>ACT	p.P607T		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	607					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCCATGAGAGGCAGTCTTTGG	0.517													T	116446399	G	T	116446399	3	4	27	1	0	0	0	0	1	0	0	0	9431	1203	42	5	4901	5	MED13L	12	116446399	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1163	116446399	17405496	5800	29751											
C12orf49	79794	broad.mit.edu	37	chr12	117160913	117160913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcccttgaatggagttgCggcactgattgctcggacga	13	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:117160913C>T	uc001tvz.1	-	2	365	c.227G>A	c.(226-228)CGC>CAC	p.R76H	C12orf49_uc009zwm.1_Intron	NM_024738	NP_079014	Q9H741	CL049_HUMAN	hypothetical protein LOC79794 precursor	76						extracellular region				ovary(1)	1	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		AATGGAGTTGCGGCACTGATT	0.547													T	117160913	C	T	117160913	3	4	27	1	0	0	0	0	1	0	0	0	1693	768	27	1	406	1	C12orf49	12	117160913	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	714514	117160913	16690982	5801	29752											
FBXW8	26259	broad.mit.edu	37	chr12	117365830	117365830	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttttcccctcagaaTgaaatgaatgatgtgccttt	6	7	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:117365830T>C	uc001twg.1	+	2	403	c.321T>C	c.(319-321)AAT>AAC	p.N107N	FBXW8_uc001twf.1_Silent_p.N41N|FBXW8_uc009zwp.1_RNA	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8 isoform	107							protein binding			ovary(2)|pancreas(1)	3	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CCCCTCAGAATGAAATGAATG	0.333													C	117365830	T	C	117365830	2	2	27	1	0	0	0	0	0	0	0	1	5770	1461	51	3		3	FBXW8	12	117365830	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	204917	117365830	16486065	5802	29753											
FBXO21	23014	broad.mit.edu	37	chr12	117615411	117615411	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttgccgcaggtagtaaagaAttttttttgcgtagtatttc	10	5	0	1	rs34443379		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:117615411A>T	uc001twk.2	-	4	545	c.506T>A	c.(505-507)ATT>AAT	p.I169N	FBXO21_uc001twj.2_Missense_Mutation_p.I169N|FBXO21_uc009zwq.2_Missense_Mutation_p.I169N	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	169					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GTAGTAAAGAATTTTTTTTGC	0.353													T	117615411	A	T	117615411	3	4	27	1	0	0	0	0	1	0	0	0	5733	101	4	5	1416	5	FBXO21	12	117615411	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	249581	117615411	16236484	5803	29754											
KSR2	283455	broad.mit.edu	37	chr12	117962760	117962760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcacctcccgcttgaaggCcttgagctggtcctcgttgt	10	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:117962760C>T	uc001two.2	-	14	2084	c.2029G>A	c.(2029-2031)GCC>ACC	p.A677T		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	706	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGCTTGAAGGCCTTGAGCTGG	0.607													T	117962760	C	T	117962760	3	4	27	1	0	0	0	0	1	0	0	0	8582	739	26	2	764	2	KSR2	12	117962760	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	347349	117962760	15889135	5804	29755											
WSB2	55884	broad.mit.edu	37	chr12	118473035	118473035	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacctgtcatctgccaccgTggcaaggtacaagccttctg	9	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:118473035T>C	uc001twr.2	-	7	1026	c.928A>G	c.(928-930)ACG>GCG	p.T310A	WSB2_uc010sza.1_Missense_Mutation_p.T85A|WSB2_uc010szb.1_Missense_Mutation_p.T100A|WSB2_uc009zws.1_Missense_Mutation_p.T310A	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	310	WD 5.				intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTGCCACCGTGGCAAGGTAC	0.547											OREG0022175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	118473035	T	C	118473035	3	2	27	1	0	0	0	0	1	0	0	0	17402	1696	59	3	298	3	WSB2	12	118473035	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	510275	118473035	15378860	5805	29756											
TAOK3	51347	broad.mit.edu	37	chr12	118599655	118599655	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgcagttctctttctcGcctcttattgtactccagct	6	13	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:118599655G>A	uc001twx.2	-	18	2372	c.2077C>T	c.(2077-2079)CGA>TGA	p.R693*	TAOK3_uc001twv.2_Nonsense_Mutation_p.R233*|TAOK3_uc001tww.2_Nonsense_Mutation_p.R523*|TAOK3_uc001twy.3_Nonsense_Mutation_p.R693*	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	693					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTCTTTCTCGCCTCTTATTG	0.473													A	118599655	G	A	118599655	4	1	27	1	0	0	0	0	0	1	0	0	15546	1095	38	1	635	1	TAOK3	12	118599655	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	126620	118599655	15252240	5806	29757											
TAOK3	51347	broad.mit.edu	37	chr12	118619246	118619246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacgagttgttggcatgcGtctccacctccttctgtagc	11	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:118619246G>A	uc001twx.2	-	15	1791	c.1496C>T	c.(1495-1497)ACG>ATG	p.T499M	TAOK3_uc001twv.2_Missense_Mutation_p.T39M|TAOK3_uc001tww.2_Missense_Mutation_p.T329M|TAOK3_uc001twy.3_Missense_Mutation_p.T499M	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	499	Potential.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTTGGCATGCGTCTCCACCTC	0.567											OREG0022177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	118619246	G	A	118619246	3	1	27	1	0	0	0	0	1	0	0	0	15546	1145	40	1	1228	1	TAOK3	12	118619246	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	19591	118619246	15232649	5807	29758											
TAOK3	51347	broad.mit.edu	37	chr12	118671500	118671500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caattcaatacaagtgatgcCaagtgaccaaatatcaactt	5	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:118671500C>T	uc001twx.2	-	9	917	c.622G>A	c.(622-624)GGC>AGC	p.G208S	TAOK3_uc001tww.2_Missense_Mutation_p.G38S|TAOK3_uc001twy.3_Missense_Mutation_p.G208S	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	208	Protein kinase.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAAGTGATGCCAAGTGACCAA	0.323													T	118671500	C	T	118671500	3	4	27	1	0	0	0	0	1	0	0	0	15546	594	21	4	2126	4	TAOK3	12	118671500	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	52254	118671500	15180395	5808	29759											
SRRM4	84530	broad.mit.edu	37	chr12	119419782	119419782	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccccgtcccgagagcatcaTtgtcgccagtatcacggccc	9	18	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:119419782T>A	uc001txa.1	+	1	387	c.95T>A	c.(94-96)ATT>AAT	p.I32N		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	32					cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						GAGAGCATCATTGTCGCCAGT	0.587													A	119419782	T	A	119419782	3	1	27	1	0	0	0	0	1	0	0	0	15170	1493	52	5	97	5	SRRM4	12	119419782	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	748282	119419782	14432113	5809	29760											
SRRM4	84530	broad.mit.edu	37	chr12	119568536	119568536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccgccgaaggcactcccGccgctgctccaagaccctct	9	20	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:119568536G>A	uc001txa.1	+	8	960	c.668G>A	c.(667-669)CGC>CAC	p.R223H		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	223	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						AGGCACTCCCGCCGCTGCTCC	0.667													A	119568536	G	A	119568536	3	1	27	1	0	0	0	0	1	0	0	0	15170	1087	38	1	698	1	SRRM4	12	119568536	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	148754	119568536	14283359	5810	29761											
HSPB8	26353	broad.mit.edu	37	chr12	119631646	119631646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcttccccaggacagccagGaagtcacctgtacctgagat	10	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:119631646G>A	uc001txb.2	+	3	1097	c.574G>A	c.(574-576)GAA>AAA	p.E192K	HSPB8_uc001txc.2_3'UTR	NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	192					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGACAGCCAGGAAGTCACCTG	0.517													A	119631646	G	A	119631646	3	1	27	1	0	0	0	0	1	0	0	0	7423	1175	41	4	584	4	HSPB8	12	119631646	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	63110	119631646	14220249	5811	29762											
CCDC60	160777	broad.mit.edu	37	chr12	119909923	119909923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaagaaataaattccagCcagccgaaaagatctcagaa	8	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:119909923C>T	uc001txe.2	+	3	760	c.295C>T	c.(295-297)CCA>TCA	p.P99S	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	99										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TAAATTCCAGCCAGCCGAAAA	0.433													T	119909923	C	T	119909923	3	4	27	1	0	0	0	0	1	0	0	0	2831	739	26	2	305	2	CCDC60	12	119909923	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	278277	119909923	13941972	5812	29763											
CIT	11113	broad.mit.edu	37	chr12	120295414	120295414	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcttaccacctgcacttcAgcaaagtgaccacaacctac	4	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:120295414A>G	uc001txi.1	-	4	380	c.327T>C	c.(325-327)GCT>GCC	p.A109A	CIT_uc001txj.1_Silent_p.A109A	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	109	ATP (By similarity).|Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCTGCACTTCAGCAAAGTGAC	0.478													G	120295414	A	G	120295414	2	3	27	1	0	0	0	0	0	0	0	1	3438	175	7	3		3	CIT	12	120295414	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	385491	120295414	13556481	5813	29764											
GCN1L1	10985	broad.mit.edu	37	chr12	120591161	120591161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatagctggcatcattgggCgcgttcttcaggaactcctc	10	12	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:120591161C>T	uc001txo.2	-	33	3931	c.3918G>A	c.(3916-3918)GCG>GCA	p.A1306A		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1306	HEAT 5.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATCATTGGGCGCGTTCTTCA	0.562													T	120591161	C	T	120591161	2	4	27	1	0	0	0	0	0	0	0	1	6299	755	27	1		1	GCN1L1	12	120591161	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	295747	120591161	13260734	5814	29765											
RPLP0	6175	broad.mit.edu	37	chr12	120637168	120637168	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatggccttgcgcatcatggTgttcttgcccatcagcacca	10	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:120637168T>C	uc001txp.2	-	3	412	c.175A>G	c.(175-177)ACC>GCC	p.T59A	RPLP0_uc001txq.2_Missense_Mutation_p.T59A|RPLP0_uc001txr.2_Missense_Mutation_p.T59A|uc001txs.1_5'Flank	NM_053275	NP_444505	P05388	RLA0_HUMAN	ribosomal protein P0	59					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGCATCATGGTGTTCTTGCCC	0.562													C	120637168	T	C	120637168	3	2	27	1	0	0	0	0	1	0	0	0	13604	1696	59	3	802	3	RPLP0	12	120637168	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	46007	120637168	13214727	5815	29766											
MSI1	4440	broad.mit.edu	37	chr12	120783402	120783402	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcccctgcttcagtggtAcccattggtgaaggctgtgg	13	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:120783402A>G	uc001tye.1	-	14	1145	c.1081T>C	c.(1081-1083)TAC>CAC	p.Y361H		NM_002442	NP_002433	O43347	MSI1H_HUMAN	musashi 1	361					nervous system development	cytoplasm|nucleus	nucleotide binding			central_nervous_system(2)|breast(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTCAGTGGTACCCATTGGTG	0.572													G	120783402	A	G	120783402	3	3	27	1	0	0	0	0	1	0	0	0	9875	391	14	3	11	3	MSI1	12	120783402	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	146234	120783402	13068493	5816	29767											
SFRS9	8683	broad.mit.edu	37	chr12	120907233	120907233	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggggcctcaccgggggtcCtcgaagcgcacgaaggcgaa	17	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:120907233C>A	uc001tyi.2	-	1	326	c.180G>T	c.(178-180)GAG>GAT	p.E60D	SFRS9_uc009zwy.2_Missense_Mutation_p.E60D|DYNLL1_uc001tyj.2_5'Flank	NM_003769	NP_003760	Q13242	SRSF9_HUMAN	splicing factor, arginine/serine-rich 9	60	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|RNA binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCGGGGGTCCTCGAAGCGCA	0.363													A	120907233	C	A	120907233	3	1	27	1	0	0	0	0	1	0	0	0	14184	680	24	5	501	5	SFRS9	12	120907233	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	123831	120907233	12944662	5817	29768											
SPPL3	121665	broad.mit.edu	37	chr12	121206174	121206174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacaggcgaggaacatcacGcccaacattgggccccaggt	12	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:121206174G>A	uc001tzd.2	-	8	1208	c.727C>T	c.(727-729)CGT>TGT	p.R243C	SPPL3_uc009zwz.2_Missense_Mutation_p.R236C|SPPL3_uc001tzc.2_Missense_Mutation_p.R73C	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN	signal peptide peptidase 3	244						integral to membrane	aspartic-type endopeptidase activity				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGAACATCACGCCCAACATTG	0.547													A	121206174	G	A	121206174	3	1	27	1	0	0	0	0	1	0	0	0	15089	1087	38	1	443	1	SPPL3	12	121206174	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	298941	121206174	12645721	5818	29769											
P2RX4	5025	broad.mit.edu	37	chr12	121660770	121660770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtctcaacaggcaggtgcGtagctttcaacgggtctgtc	13	10	3	0	rs145814749	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:121660770G>A	uc001tzr.2	+	5	752	c.448G>A	c.(448-450)GTA>ATA	p.V150I	P2RX4_uc010szr.1_Intron|P2RX4_uc010szs.1_Intron|P2RX4_uc009zxc.2_Intron|P2RX4_uc001tzs.2_Missense_Mutation_p.V166I|P2RX4_uc009zxb.2_RNA|P2RX4_uc010szt.1_Missense_Mutation_p.V49I	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	purinergic receptor P2X4	150	Extracellular (Potential).				endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGCAGGTGCGTAGCTTTCAA	0.577													A	121660770	G	A	121660770	3	1	27	1	0	0	0	0	1	0	0	0	11342	1145	40	1	466	1	P2RX4	12	121660770	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	454596	121660770	12191125	5819	29770											
KDM2B	84678	broad.mit.edu	37	chr12	122016814	122016814	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcctccacgtccgacaagTcctcgttctcgtcgtatcgc	7	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:122016814T>C	uc001uat.2	-	2	268	c.164A>G	c.(163-165)GAC>GGC	p.D55G	KDM2B_uc001uas.2_Missense_Mutation_p.D24G|KDM2B_uc001uau.2_5'UTR|KDM2B_uc001uav.3_Missense_Mutation_p.D55G	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	55					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						GTCCGACAAGTCCTCGTTCTC	0.632													C	122016814	T	C	122016814	3	2	27	1	0	0	0	0	1	0	0	0	8125	1667	58	3	3986	3	KDM2B	12	122016814	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	356044	122016814	11835081	5820	29771											
TMEM120B	144404	broad.mit.edu	37	chr12	122213555	122213555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctcatcctcttcctcgGcaacttcctgaccacgctca	4	19	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:122213555G>A	uc001ubc.3	+	12	1091	c.947G>A	c.(946-948)GGC>GAC	p.G316D	TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_5'Flank	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN	transmembrane protein 120B	316	Helical; (Potential).					integral to membrane					0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CTCTTCCTCGGCAACTTCCTG	0.632											OREG0022207	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	122213555	G	A	122213555	3	1	27	1	0	0	0	0	1	0	0	0	16031	1203	42	2	993	2	TMEM120B	12	122213555	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	196741	122213555	11638340	5821	29772											
RHOF	54509	broad.mit.edu	37	chr12	122217484	122217484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaccttggcggcctcccGgaagacgtcctccacattct	9	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:122217484G>A	uc001ubb.2	-	5	611	c.556C>T	c.(556-558)CGG>TGG	p.R186W	TMEM120B_uc001ubc.3_3'UTR|TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_RNA	NM_019034	NP_061907	Q9HBH0	RHOF_HUMAN	ras homolog gene family, member F precursor	186					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			ovary(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GCGGCCTCCCGGAAGACGTCC	0.637													A	122217484	G	A	122217484	3	1	27	1	0	0	0	0	1	0	0	0	13338	1115	39	1	83	1	RHOF	12	122217484	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3929	122217484	11634411	5822	29773											
MLXIP	22877	broad.mit.edu	37	chr12	122625562	122625562	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggtgtccaccagcagccTggaggagctgcaccggacgg	15	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:122625562T>C	uc001ubq.2	+	16	2570	c.2570T>C	c.(2569-2571)CTG>CCG	p.L857P	MLXIP_uc001ubt.2_Missense_Mutation_p.L464P	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	MLX interacting protein	857	Mediates heterotypic interactions between MLXIP and MLX and is required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			ovary(2)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ACCAGCAGCCTGGAGGAGCTG	0.617													C	122625562	T	C	122625562	3	2	27	1	0	0	0	0	1	0	0	0	9636	1580	55	3	2632	3	MLXIP	12	122625562	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	408078	122625562	11226333	5823	29774											
IL31	386653	broad.mit.edu	37	chr12	122657248	122657248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggctgagacacggcagcGtgtaattctgggacacgagc	15	10	1	1	rs138591343	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:122657248G>A	uc001ubv.2	-	3	233	c.206C>T	c.(205-207)ACG>ATG	p.T69M	LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron	NM_001014336	NP_001014358	Q6EBC2	IL31_HUMAN	interleukin 31 precursor	69						extracellular space	cytokine activity			central_nervous_system(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		ACACGGCAGCGTGTAATTCTG	0.527													A	122657248	G	A	122657248	3	1	27	1	0	0	0	0	1	0	0	0	7690	1145	40	1	292	1	IL31	12	122657248	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	31686	122657248	11194647	5824	29775											
LRRC43	254050	broad.mit.edu	37	chr12	122685346	122685346	+	Frame_Shift_Del	DEL	C	C	-													cccaaggagctccggcaggaCccccccatcctccaggtgct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:122685345_122685345AC>A	uc009zxm.3	+	9	1698	c.1673_1673AC>A	c.(1672-1674)gacfs	p.D558fs	LRRC43_uc001ubw.4_Frame_Shift_Del_p.D373fs|LRRC43_uc009zxn.3_Frame_Shift_Del_p.D319fs|B3GNT4_uc001ubx.3_5'Flank|B3GNT4_uc001uby.3_5'Flank	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	558										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCCGGCAGGACCCCCCCATC	0.667													-	122685346	C	-	122685346	7	5	27	1	0	1	0	1	0	0	0	0	9001	506	18	0	1712	0	LRRC43	12	122685346	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	28098	122685346	11166549	5825	29776											
VPS33A	65082	broad.mit.edu	37	chr12	122720408	122720408	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtttctgccccccgtctgCggtttcagcaggccggcctt	11	15	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:122720408C>T	uc001ucd.2	-	11	1478	c.1365G>A	c.(1363-1365)CCG>CCA	p.P455P	VPS33A_uc001ucc.2_RNA	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33A	455					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			skin(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CCCCCGTCTGCGGTTTCAGCA	0.498													T	122720408	C	T	122720408	2	4	27	1	0	0	0	0	0	0	0	1	17198	755	27	1		1	VPS33A	12	122720408	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	35062	122720408	11131487	5826	29777											
CLIP1	6249	broad.mit.edu	37	chr12	122825857	122825857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgcctgctggtgggatgCgatggcagtctccagtttgg	15	10	1	0	rs151267608		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:122825857C>T	uc001ucg.1	-	10	2000	c.1894G>A	c.(1894-1896)GCA>ACA	p.A632T	CLIP1_uc001uch.1_Missense_Mutation_p.A621T|CLIP1_uc001uci.1_Missense_Mutation_p.A586T|CLIP1_uc001ucj.1_Missense_Mutation_p.A322T|CLIP1_uc009zxo.1_Missense_Mutation_p.A188T	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	632	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TGGTGGGATGCGATGGCAGTC	0.453													T	122825857	C	T	122825857	3	4	27	1	0	0	0	0	1	0	0	0	3532	768	27	1	2486	1	CLIP1	12	122825857	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	105449	122825857	11026038	5827	29778											
GPR81	27198	broad.mit.edu	37	chr12	123214131	123214131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccatggacagagggatcGcaggcactcgagggcaccgt	15	13	0	1	rs146760413		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:123214131G>A	uc001ucz.2	-	1	999	c.756C>T	c.(754-756)TGC>TGT	p.C252C	GPR81_uc001ucw.1_RNA	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	G protein-coupled receptor 81	252	Extracellular (Potential).				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CAGAGGGATCGCAGGCACTCG	0.542													A	123214131	G	A	123214131	2	1	27	1	0	0	0	0	0	0	0	1	6711	1079	38	1		1	GPR81	12	123214131	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	388274	123214131	10637764	5828	29779											
CCDC62	84660	broad.mit.edu	37	chr12	123265820	123265820	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccaaaagacccaactacaGcttcaggaaatggctcaaaa	6	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:123265820G>T	uc001udc.2	+	3	484	c.339G>T	c.(337-339)CAG>CAT	p.Q113H	CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Missense_Mutation_p.Q113H|CCDC62_uc001ude.2_Missense_Mutation_p.A12S	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62 isoform b	113	Potential.					cytoplasm|nucleus				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		CCCAACTACAGCTTCAGGAAA	0.403													T	123265820	G	T	123265820	3	4	27	1	0	0	0	0	1	0	0	0	2833	962	34	5	349	5	CCDC62	12	123265820	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	51689	123265820	10586075	5829	29780											
CCDC62	84660	broad.mit.edu	37	chr12	123285971	123285971	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacccgaaaacaaaattacAttgtgcaagatccacacaaa	5	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:123285971A>G	uc001udc.2	+	9	1423	c.1278A>G	c.(1276-1278)ACA>ACG	p.T426T	CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Silent_p.T426T|CCDC62_uc001ude.2_Silent_p.T187T	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62 isoform b	426						cytoplasm|nucleus				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		ACAAAATTACATTGTGCAAGA	0.428													G	123285971	A	G	123285971	2	3	27	1	0	0	0	0	0	0	0	1	2833	204	8	3		3	CCDC62	12	123285971	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	20151	123285971	10565924	5830	29781											
CCDC62	84660	broad.mit.edu	37	chr12	123297963	123297963	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctcactggcagtgccacAaatgtatgcgtttcattttc	7	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:123297963A>G	uc001udc.2	+	11	2143	c.1998A>G	c.(1996-1998)ACA>ACG	p.T666T	CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Silent_p.T666T|CCDC62_uc001ude.2_Silent_p.T427T	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62 isoform b	666						cytoplasm|nucleus				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GCAGTGCCACAAATGTATGCG	0.507													G	123297963	A	G	123297963	2	3	27	1	0	0	0	0	0	0	0	1	2833	117	5	3		3	CCDC62	12	123297963	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	11992	123297963	10553932	5831	29782											
ABCB9	23457	broad.mit.edu	37	chr12	123424729	123424729	+	Frame_Shift_Del	DEL	G	G	-													cagcacccggcccccctccaGggggtagaagttctccagga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:123424728_123424728AG>A	uc001udm.4	-	8	1983	c.1673_1673CT>T	c.(1672-1674)ctgfs	p.L558fs	ABCB9_uc021rfo.1_Frame_Shift_Del_p.L558fs|ABCB9_uc021rfp.1_Frame_Shift_Del_p.L558fs|ABCB9_uc010tai.2_Frame_Shift_Del_p.L165fs|ABCB9_uc001udo.4_Frame_Shift_Del_p.L515fs|ABCB9_uc010taj.2_Frame_Shift_Del_p.L495fs|ABCB9_uc001udq.3_Frame_Shift_Del_p.L277fs|ABCB9_uc021rfq.1_Frame_Shift_Del_p.L558fs|ABCB9_uc001udr.3_Frame_Shift_Del_p.L558fs	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA.	558	ABC transporter.				positive regulation of T cell mediated cytotoxicity|protein transport	TAP complex|lysosomal membrane|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GCCCCCCTCCAGGGGGTAGAA	0.652													-	123424729	G	-	123424729	7	5	27	1	0	1	0	1	0	0	0	0	48	991	35	0	644	0	ABCB9	12	123424729	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	126766	123424729	10427166	5832	29783											
SBNO1	55206	broad.mit.edu	37	chr12	123794355	123794355	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataacgcattctgctgatgcAcctccatgcctaaaattcta	5	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:123794355A>G	uc010tap.1	-	25	3344	c.3344T>C	c.(3343-3345)GTG>GCG	p.V1115A	SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.V1114A|SBNO1_uc010taq.1_Missense_Mutation_p.V66A|SBNO1_uc001ues.1_Missense_Mutation_p.V66A	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	1115							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGCTGATGCACCTCCATGCC	0.303													G	123794355	A	G	123794355	3	3	27	1	0	0	0	0	1	0	0	0	13862	159	6	3	865	3	SBNO1	12	123794355	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	369626	123794355	10057540	5833	29784											
RILPL2	196383	broad.mit.edu	37	chr12	123915133	123915133	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcctgcagcacatcccttAgctcctgcagagtgaagcgg	11	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:123915133A>G	uc001uey.1	-	2	710	c.413T>C	c.(412-414)CTA>CCA	p.L138P		NM_145058	NP_659495	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	138	Potential.|RILP-like.					cytosol|plasma membrane	identical protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		CACATCCCTTAGCTCCTGCAG	0.562													G	123915133	A	G	123915133	3	3	27	1	0	0	0	0	1	0	0	0	13362	420	15	3	234	3	RILPL2	12	123915133	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	120778	123915133	9936762	5834	29785											
TMED2	10959	broad.mit.edu	37	chr12	124069277	124069277	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgacgcccatgctgaagagTgcttctttgagcgggtcacc	12	12	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:124069277T>C	uc001ufg.2	+	1	202	c.94T>C	c.(94-96)TGC>CGC	p.C32R		NM_006815	NP_006806	Q15363	TMED2_HUMAN	coated vesicle membrane protein precursor	32	Lumenal (Potential).|GOLD.				protein transport|vesicle-mediated transport	COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane	protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		TGCTGAAGAGTGCTTCTTTGA	0.627													C	124069277	T	C	124069277	3	2	27	1	0	0	0	0	1	0	0	0	16001	1696	59	3	96	3	TMED2	12	124069277	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	154144	124069277	9782618	5835	29786											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124228803	124228803	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgtgatgtttggagacttCggacatggctttgtgatgtt	14	5	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:124228803C>T	uc001ufr.2	+	11	1493	c.1245C>T	c.(1243-1245)TTC>TTT	p.F415F		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	415	Helical; (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TTGGAGACTTCGGACATGGCT	0.378													T	124228803	C	T	124228803	2	4	27	1	0	0	0	0	0	0	0	1	1169	883	31	1		1	ATP6V0A2	12	124228803	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	159526	124228803	9623092	5836	29787											
DNAH10	196385	broad.mit.edu	37	chr12	124268706	124268706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtgcgctttctctccacCgtggagcgttatttcaaggt	10	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:124268706C>T	uc001uft.3	+	8	1054	c.1029C>T	c.(1027-1029)ACC>ACT	p.T343T		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	343	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCTCTCCACCGTGGAGCGTT	0.458													T	124268706	C	T	124268706	2	4	27	1	0	0	0	0	0	0	0	1	4598	639	23	1		1	DNAH10	12	124268706	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	39903	124268706	9583189	5837	29788											
DNAH10	196385	broad.mit.edu	37	chr12	124330561	124330561	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgggaaagtcagttgcggTtttattgggaccgggagccg	16	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:124330561T>C	uc001uft.3	+	31	5345	c.5320T>C	c.(5320-5322)TTT>CTT	p.F1774L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1774	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCAGTTGCGGTTTTATTGGGA	0.572													C	124330561	T	C	124330561	3	2	27	1	0	0	0	0	1	0	0	0	4598	1725	60	3	5442	3	DNAH10	12	124330561	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	61855	124330561	9521334	5838	29789											
DNAH10	196385	broad.mit.edu	37	chr12	124393820	124393820	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgccaggtcgtttgctaaGcccccgaagcaggtgcagac	12	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:124393820G>A	uc001uft.3	+	57	9499	c.9474G>A	c.(9472-9474)AAG>AAA	p.K3158K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3158	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CGTTTGCTAAGCCCCCGAAGC	0.557													A	124393820	G	A	124393820	2	1	27	1	0	0	0	0	0	0	0	1	4598	962	34	2		2	DNAH10	12	124393820	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	63259	124393820	9458075	5839	29790											
NCOR2	9612	broad.mit.edu	37	chr12	124832728	124832728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgctatcaccttcgatgCtggctgaggagatggctctg	12	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:124832728C>T	uc010tba.1	-	29	4118	c.4001G>A	c.(4000-4002)AGC>AAC	p.S1334N	NCOR2_uc010tay.1_Missense_Mutation_p.S1333N|NCOR2_uc010taz.1_Missense_Mutation_p.S1317N|NCOR2_uc010tbb.1_Missense_Mutation_p.S1326N|NCOR2_uc010tbc.1_Missense_Mutation_p.S1316N|NCOR2_uc001ugj.1_Missense_Mutation_p.S1334N	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1334					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ACCTTCGATGCTGGCTGAGGA	0.473											OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	124832728	C	T	124832728	3	4	27	1	0	0	0	0	1	0	0	0	10236	797	28	2	3643	2	NCOR2	12	124832728	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	438908	124832728	9019167	5840	29791											
NCOR2	9612	broad.mit.edu	37	chr12	124835152	124835152	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctcataggacaagacgtgGcccttcttgccttcgtagat	9	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:124835152G>T	uc010tba.1	-	28	3966	c.3849C>A	c.(3847-3849)GGC>GGA	p.G1283G	NCOR2_uc010tay.1_Silent_p.G1282G|NCOR2_uc010taz.1_Silent_p.G1266G|NCOR2_uc010tbb.1_Silent_p.G1275G|NCOR2_uc010tbc.1_Silent_p.G1265G|NCOR2_uc001ugj.1_Silent_p.G1283G	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1283					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ACAAGACGTGGCCCTTCTTGC	0.647													T	124835152	G	T	124835152	2	4	27	1	0	0	0	0	0	0	0	1	10236	1190	42	5		5	NCOR2	12	124835152	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2424	124835152	9016743	5841	29792											
NCOR2	9612	broad.mit.edu	37	chr12	124882718	124882718	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgagaactctcattcagcTccatggaggctgaaaagaag	11	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:124882718T>G	uc010tba.1	-	16	1940	c.1823A>C	c.(1822-1824)GAG>GCG	p.E608A	NCOR2_uc010tay.1_Missense_Mutation_p.E608A|NCOR2_uc010taz.1_Missense_Mutation_p.E608A|NCOR2_uc010tbb.1_Missense_Mutation_p.E608A|NCOR2_uc010tbc.1_Missense_Mutation_p.E607A|NCOR2_uc001ugj.1_Missense_Mutation_p.E608A	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	608					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTCATTCAGCTCCATGGAGGC	0.532													G	124882718	T	G	124882718	3	3	27	1	0	0	0	0	1	0	0	0	10236	1551	54	5	5873	5	NCOR2	12	124882718	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	47566	124882718	8969177	5842	29793											
NCOR2	9612	broad.mit.edu	37	chr12	124885063	124885063	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacccagctcggcgctctgCtggggggtgatggcctcctc	14	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:124885063C>A	uc010tba.1	-	15	1914	c.1797G>T	c.(1795-1797)CAG>CAT	p.Q599H	NCOR2_uc010tay.1_Missense_Mutation_p.Q599H|NCOR2_uc010taz.1_Missense_Mutation_p.Q599H|NCOR2_uc010tbb.1_Missense_Mutation_p.Q599H|NCOR2_uc010tbc.1_Missense_Mutation_p.Q598H|NCOR2_uc001ugj.1_Missense_Mutation_p.Q599H	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	599					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGGCGCTCTGCTGGGGGGTGA	0.622													A	124885063	C	A	124885063	3	1	27	1	0	0	0	0	1	0	0	0	10236	796	28	5	5903	5	NCOR2	12	124885063	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2345	124885063	8966832	5843	29794											
SCARB1	949	broad.mit.edu	37	chr12	125267352	125267353	+	Frame_Shift_Ins	INS	-	-	T													tactccaaaataaatagcatINSttctcctagaagataaccaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:125267351_125267352A>AT	uc001ugm.4	-	11	1660_1661	c.1407_1408T>AT	c.(1405-1410)aaatgcfs	p.K469fs	SCARB1_uc001ugn.4_Intron|SCARB1_uc010tbd.2_Frame_Shift_Ins_p.K441fs|SCARB1_uc001ugo.4_Intron	NM_005505	NP_005496	Q8WTV0	SCRB1_HUMAN	Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 1, mRNA.	0					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	AATAAATAGCATTTCTCCTAGA	0.396													T	125267353	-	T	125267352	7	5	27	1	0	1	1	0	0	0	0	0	13881	1490	52	0	250	0	SCARB1	12	125267352	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	382289	125267352	8584543	5844	29795											
SCARB1	949	broad.mit.edu	37	chr12	125294824	125294824	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgttgcactgatcggaatgCcagaagtcaacctgggggga	14	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:125294824C>A	uc001ugo.3	-	6	991	c.738G>T	c.(736-738)TGG>TGT	p.W246C	SCARB1_uc001ugn.3_Missense_Mutation_p.W246C|SCARB1_uc001ugm.3_Missense_Mutation_p.W246C|SCARB1_uc010tbd.1_Missense_Mutation_p.W246C|SCARB1_uc010tbe.1_Missense_Mutation_p.W205C|SCARB1_uc001ugp.3_Missense_Mutation_p.W246C	NM_005505	NP_005496	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1 isoform 1	246	Extracellular (Potential).				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			kidney(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GATCGGAATGCCAGAAGTCAA	0.567													A	125294824	C	A	125294824	3	1	27	1	0	0	0	0	1	0	0	0	13881	740	26	5	943	5	SCARB1	12	125294824	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	27472	125294824	8557071	5845	29796											
DHX37	57647	broad.mit.edu	37	chr12	125444895	125444895	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcatttgaaggattaagTcttcaacaggcctccgggtg	10	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:125444895T>C	uc001ugy.2	-	16	2219	c.2120A>G	c.(2119-2121)GAC>GGC	p.D707G		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	707	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AAGGATTAAGTCTTCAACAGG	0.547													C	125444895	T	C	125444895	3	2	27	1	0	0	0	0	1	0	0	0	4510	1667	58	3	1401	3	DHX37	12	125444895	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	150071	125444895	8407000	5846	29797											
AACS	65985	broad.mit.edu	37	chr12	125591759	125591759	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcagccacccactgttcaTcatgttctcatcgggcacca	6	16	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:125591759T>C	uc001uhc.2	+	8	1066	c.860T>C	c.(859-861)ATC>ACC	p.I287T	AACS_uc009zyg.2_RNA|AACS_uc001uhd.2_Missense_Mutation_p.I287T|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_5'UTR	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	287					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		CCACTGTTCATCATGTTCTCA	0.607													C	125591759	T	C	125591759	3	2	27	1	0	0	0	0	1	0	0	0	9	1435	50	3	890	3	AACS	12	125591759	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	146864	125591759	8260136	5847	29798											
AACS	65985	broad.mit.edu	37	chr12	125621279	125621279	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtacagggaggagagggtgAtcctcttcctgaagatggcc	15	8	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:125621279A>T	uc001uhc.2	+	17	1956	c.1750A>T	c.(1750-1752)ATC>TTC	p.I584F	AACS_uc001uhd.2_Intron|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_Missense_Mutation_p.I182F	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	584					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GGAGAGGGTGATCCTCTTCCT	0.587													T	125621279	A	T	125621279	3	4	27	1	0	0	0	0	1	0	0	0	9	333	12	5	1816	5	AACS	12	125621279	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	29520	125621279	8230616	5848	29799											
TMEM132B	114795	broad.mit.edu	37	chr12	126004077	126004077	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagattacctggcaggTggagtacccgattgaggact	13	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:126004077T>C	uc001uhe.1	+	4	1192	c.1184T>C	c.(1183-1185)GTG>GCG	p.V395A		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	395	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACCTGGCAGGTGGAGTACCCG	0.527													C	126004077	T	C	126004077	3	2	27	1	0	0	0	0	1	0	0	0	16043	1696	59	3	1198	3	TMEM132B	12	126004077	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	382798	126004077	7847818	5849	29800											
TMEM132D	121256	broad.mit.edu	37	chr12	129558728	129558728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggagatatttactttcctCgaaatccatgcccctgtcaa	7	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:129558728C>T	uc009zyl.1	-	9	3320	c.2992G>A	c.(2992-2994)GAG>AAG	p.E998K	TMEM132D_uc001uia.2_Missense_Mutation_p.E536K	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	998	Cytoplasmic (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTACTTTCCTCGAAATCCATG	0.463													T	129558728	C	T	129558728	3	4	27	1	0	0	0	0	1	0	0	0	16044	893	31	1	311	1	TMEM132D	12	129558728	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3554651	129558728	4293167	5850	29801											
TMEM132D	121256	broad.mit.edu	37	chr12	130185180	130185180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgatgtggtaggtcacgGggaggtaggtgggcagcaag	20	4	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:130185180G>A	uc009zyl.1	-	2	471	c.143C>T	c.(142-144)CCC>CTC	p.P48L		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	48	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTAGGTCACGGGGAGGTAGGT	0.572													A	130185180	G	A	130185180	3	1	27	1	0	0	0	0	1	0	0	0	16044	1232	43	4	3188	4	TMEM132D	12	130185180	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	626452	130185180	3666715	5851	29802											
FZD10	11211	broad.mit.edu	37	chr12	130648123	130648123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgcgcgccgctctgcacGcccggcgtggacgtgtactg	15	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:130648123G>A	uc001uii.2	+	1	1092	c.636G>A	c.(634-636)ACG>ACA	p.T212T	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	212	Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CGCTCTGCACGCCCGGCGTGG	0.597													A	130648123	G	A	130648123	2	1	27	1	0	0	0	0	0	0	0	1	6129	1074	38	1		1	FZD10	12	130648123	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	462943	130648123	3203772	5852	29803											
RIMBP2	23504	broad.mit.edu	37	chr12	130897259	130897259	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttgtatctcagagaccatgTtacaaggaataaggccaagc	9	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:130897259T>A	uc001uil.2	-	15	2890	c.2726A>T	c.(2725-2727)AAC>ATC	p.N909I		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	909	SH3 2.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGAGACCATGTTACAAGGAAT	0.458													A	130897259	T	A	130897259	3	1	27	1	0	0	0	0	1	0	0	0	13363	1725	60	5	452	5	RIMBP2	12	130897259	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	249136	130897259	2954636	5853	29804											
GPR133	283383	broad.mit.edu	37	chr12	131466442	131466442	+	Frame_Shift_Del	DEL	T	T	-													tcctcaggggtcacgttttcTtttttctggaagacacaagg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:131466441_131466441CT>C	uc010tbm.2	+	5	978	c.419_419CT>C	c.(418-420)tctfs	p.S140fs	GPR133_uc001uit.4_Frame_Shift_Del_p.S108fs	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	108					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GTCACGTTTTCTTTTTTCTGG	0.473													-	131466442	T	-	131466442	7	5	27	1	0	1	0	1	0	0	0	0	6643	1596	56	0	342	0	GPR133	12	131466442	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	569183	131466442	2385453	5854	29805											
GPR133	283383	broad.mit.edu	37	chr12	131569156	131569156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcacctactccgtctgccGctgcactcacctcaccaact	4	21	4	0	rs145630930	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:131569156G>A	uc001uit.3	+	15	2178	c.1619G>A	c.(1618-1620)CGC>CAC	p.R540H	GPR133_uc010tbm.1_Missense_Mutation_p.R572H|GPR133_uc009zyo.2_5'UTR|GPR133_uc001uiv.1_Missense_Mutation_p.R59H	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	540	GPS.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCGTCTGCCGCTGCACTCAC	0.617													A	131569156	G	A	131569156	3	1	27	1	0	0	0	0	1	0	0	0	6643	1087	38	1	1677	1	GPR133	12	131569156	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	102714	131569156	2282739	5855	29806											
SFRS8	6433	broad.mit.edu	37	chr12	132241057	132241057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggctcccacagactctgctCccgagaagccaagtgatgct	10	14	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:132241057C>T	uc001uja.1	+	11	1728	c.1588C>T	c.(1588-1590)CCC>TCC	p.P530S	SFRS8_uc010tbn.1_Missense_Mutation_p.P530S|SFRS8_uc001ujb.1_Missense_Mutation_p.P323S	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	530					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		AGACTCTGCTCCCGAGAAGCC	0.532													T	132241057	C	T	132241057	3	4	27	1	0	0	0	0	1	0	0	0	14183	855	30	4	1630	4	SFRS8	12	132241057	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	671901	132241057	1610838	5856	29807											
SFRS8	6433	broad.mit.edu	37	chr12	132249139	132249139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagaaagttctagtagtgCtgcaaacactaacccagcag	8	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:132249139C>T	uc001uja.1	+	12	1999	c.1859C>T	c.(1858-1860)GCT>GTT	p.A620V	SFRS8_uc010tbn.1_Missense_Mutation_p.A620V|SFRS8_uc001ujb.1_Missense_Mutation_p.A413V	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	620					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		TCTAGTAGTGCTGCAAACACT	0.448													T	132249139	C	T	132249139	3	4	27	1	0	0	0	0	1	0	0	0	14183	797	28	2	1905	2	SFRS8	12	132249139	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	8082	132249139	1602756	5857	29808											
SFRS8	6433	broad.mit.edu	37	chr12	132281751	132281751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgagaagaagaagaagaggCggtcccggtcgcggaccaag	16	9	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:132281751C>T	uc001uja.1	+	16	2703	c.2563C>T	c.(2563-2565)CGG>TGG	p.R855W	SFRS8_uc010tbn.1_Missense_Mutation_p.R907W	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	855	Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		GAAGAAGAGGCGGTCCCGGTC	0.488													T	132281751	C	T	132281751	3	4	27	1	0	0	0	0	1	0	0	0	14183	759	27	1	2625	1	SFRS8	12	132281751	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	32612	132281751	1570144	5858	29809											
EP400	57634	broad.mit.edu	37	chr12	132508396	132508396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggctcagccagagacgCcggtgacactgcagttccag	14	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:132508396C>T	uc001ujn.2	+	23	4800	c.4765C>T	c.(4765-4767)CCG>TCG	p.P1589S	EP400_uc001ujl.2_Missense_Mutation_p.P1588S|EP400_uc001ujm.2_Missense_Mutation_p.P1508S	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1625					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCCAGAGACGCCGGTGACACT	0.582													T	132508396	C	T	132508396	3	4	27	1	0	0	0	0	1	0	0	0	5149	739	26	2	4852	2	EP400	12	132508396	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	226645	132508396	1343499	5859	29810											
EP400	57634	broad.mit.edu	37	chr12	132534928	132534928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggatgagaatgccacaCacacccagctgtacacgagc	9	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:132534928C>T	uc001ujn.2	+	39	7296	c.7261C>T	c.(7261-7263)CAC>TAC	p.H2421Y	EP400_uc001ujl.2_Missense_Mutation_p.H2420Y|EP400_uc001ujm.2_Missense_Mutation_p.H2340Y	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2457					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAATGCCACACACACCCAGCT	0.473													T	132534928	C	T	132534928	3	4	27	1	0	0	0	0	1	0	0	0	5149	478	17	4	7412	4	EP400	12	132534928	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	26532	132534928	1316967	5860	29811											
P2RX2	22953	broad.mit.edu	37	chr12	133197925	133197925	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcattgacgtcattgtgcaTggacaggtgcctgcacctgc	12	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:133197925T>C	uc001ukj.1	+	9	990	c.990T>C	c.(988-990)CAT>CAC	p.H330H	P2RX2_uc001uki.1_Silent_p.H330H|P2RX2_uc001ukk.1_Silent_p.H330H|P2RX2_uc001ukl.1_Silent_p.H306H|P2RX2_uc001ukm.1_Silent_p.H258H|P2RX2_uc001ukn.1_Silent_p.H238H|P2RX2_uc009zyt.1_Silent_p.H330H|P2RX2_uc001uko.1_Silent_p.H296H	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X2 isoform A	330	Pore-forming motif (Potential).|Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		TCATTGTGCATGGACAGGTGC	0.617													C	133197925	T	C	133197925	2	2	27	1	0	0	0	0	0	0	0	1	11340	1461	51	3		3	P2RX2	12	133197925	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	662997	133197925	653970	5861	29812											
POLE	5426	broad.mit.edu	37	chr12	133214612	133214612	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccgcacctgctggtgatgTactccacgtaagcgatggca	12	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:133214612T>C	uc001uks.1	-	41	5710	c.5666A>G	c.(5665-5667)TAC>TGC	p.Y1889C	POLE_uc001ukq.1_Missense_Mutation_p.Y99C|POLE_uc001ukr.1_Missense_Mutation_p.Y693C|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1889					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCTGGTGATGTACTCCACGTA	0.572								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					C	133214612	T	C	133214612	3	2	27	1	0	0	0	0	1	0	0	0	12196	1638	57	3	1230	3	POLE	12	133214612	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	16687	133214612	637283	5862	29813											
POLE	5426	broad.mit.edu	37	chr12	133234500	133234500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagctcttgagccatttcCggagaaagtgcttcctcacc	9	12	2	3	rs114315196	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:133234500C>T	uc001uks.1	-	27	3376	c.3332G>A	c.(3331-3333)CGG>CAG	p.R1111Q	POLE_uc001ukr.1_5'UTR|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.R1084Q	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1111					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GAGCCATTTCCGGAGAAAGTG	0.483								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	133234500	C	T	133234500	3	4	27	1	0	0	0	0	1	0	0	0	12196	652	23	1	3620	1	POLE	12	133234500	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	19888	133234500	617395	5863	29814											
POLE	5426	broad.mit.edu	37	chr12	133245074	133245074	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggatccgatggtattcgcTgcgactggctggcactggga	15	10	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:133245074T>G	uc001uks.1	-	19	2085	c.2041A>C	c.(2041-2043)AGC>CGC	p.S681R	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.S654R	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	681					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGGTATTCGCTGCGACTGGCT	0.607								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					G	133245074	T	G	133245074	3	3	27	1	0	0	0	0	1	0	0	0	12196	1580	55	5	4943	5	POLE	12	133245074	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	10574	133245074	606821	5864	29815											
POLE	5426	broad.mit.edu	37	chr12	133249803	133249803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaaagatgaatgggtggaCgtacttcatgtacaggtagt	13	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:133249803C>T	uc001uks.1	-	14	1464	c.1420G>A	c.(1420-1422)GTC>ATC	p.V474I	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.V447I	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	474					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AATGGGTGGACGTACTTCATG	0.537								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	133249803	C	T	133249803	3	4	27	1	0	0	0	0	1	0	0	0	12196	536	19	1	5584	1	POLE	12	133249803	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4729	133249803	602092	5865	29816											
PGAM5	192111	broad.mit.edu	37	chr12	133291482	133291482	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcaacgtgcggaagaggaAcgtggaatctggggaagaag	17	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:133291482A>G	uc009zyv.2	+	2	257	c.230A>G	c.(229-231)AAC>AGC	p.N77S	PGAM5_uc010tbr.1_RNA|PGAM5_uc001uku.2_Missense_Mutation_p.N77S	NM_138575	NP_612642	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	77	Interaction with KEAP1.					integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		CGGAAGAGGAACGTGGAATCT	0.512													G	133291482	A	G	133291482	3	3	27	1	0	0	0	0	1	0	0	0	11776	43	2	3	236	3	PGAM5	12	133291482	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	41679	133291482	560413	5866	29817											
ANKLE2	23141	broad.mit.edu	37	chr12	133306795	133306795	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcattttgccgatttttTatttcttccaagctcatgtc	6	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:133306795T>C	uc001ukx.2	-	11	2020	c.1953A>G	c.(1951-1953)ATA>ATG	p.I651M	ANKLE2_uc009zyw.1_Missense_Mutation_p.I6M	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	651						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GCCGATTTTTTATTTCTTCCA	0.512													C	133306795	T	C	133306795	3	2	27	1	0	0	0	0	1	0	0	0	633	1744	61	3	875	3	ANKLE2	12	133306795	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	15313	133306795	545100	5867	29818											
ANKLE2	23141	broad.mit.edu	37	chr12	133324563	133324563	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggcagatggaagcctggTtctctttggcagcaacatgc	13	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:133324563T>C	uc001ukx.2	-	5	1152	c.1085A>G	c.(1084-1086)AAC>AGC	p.N362S	ANKLE2_uc001uky.3_Missense_Mutation_p.N300S	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	362						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GGAAGCCTGGTTCTCTTTGGC	0.552													C	133324563	T	C	133324563	3	2	27	1	0	0	0	0	1	0	0	0	633	1725	60	3	1767	3	ANKLE2	12	133324563	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	17768	133324563	527332	5868	29819											
GOLGA3	2802	broad.mit.edu	37	chr12	133350896	133350896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagctggcctcgcctttcGgctcctttctctgtttttaa	8	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:133350896G>A	uc001ukz.1	-	23	4713	c.4154C>T	c.(4153-4155)CCG>CTG	p.P1385L		NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1385	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTCGCCTTTCGGCTCCTTTCT	0.612													A	133350896	G	A	133350896	3	1	27	1	0	0	0	0	1	0	0	0	6554	1116	39	1	350	1	GOLGA3	12	133350896	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	26333	133350896	500999	5869	29820											
GOLGA3	2802	broad.mit.edu	37	chr12	133363022	133363022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgagggcctcctgcaggCggcggctgaggatgcccacg	17	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:133363022C>T	uc001ukz.1	-	15	3585	c.3026G>A	c.(3025-3027)CGC>CAC	p.R1009H	GOLGA3_uc001ula.1_Missense_Mutation_p.R1009H|GOLGA3_uc001ulb.2_Missense_Mutation_p.R1009H	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1009	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTCCTGCAGGCGGCGGCTGAG	0.652													T	133363022	C	T	133363022	3	4	27	1	0	0	0	0	1	0	0	0	6554	768	27	1	1648	1	GOLGA3	12	133363022	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	12126	133363022	488873	5870	29821											
CHFR	55743	broad.mit.edu	37	chr12	133433166	133433166	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcatgtcttgagtgaTtttatttctggcatccatac	8	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:133433166T>C	uc001ulf.2	-	10	1237	c.1153A>G	c.(1153-1155)ATC>GTC	p.I385V	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.I373V|CHFR_uc010tbs.1_Missense_Mutation_p.I385V|CHFR_uc001uld.2_Missense_Mutation_p.I344V|CHFR_uc010tbt.1_Missense_Mutation_p.I293V	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	385					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TCTTGAGTGATTTTATTTCTG	0.493													C	133433166	T	C	133433166	3	2	27	1	0	0	0	0	1	0	0	0	3337	1493	52	3	877	3	CHFR	12	133433166	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	70144	133433166	418729	5871	29822											
CHFR	55743	broad.mit.edu	37	chr12	133433184	133433184	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattttatttctggcatccaTactttgcacatcttcttcac	4	11	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr12:133433184T>C	uc001ulf.2	-	10	1219	c.1135A>G	c.(1135-1137)ATG>GTG	p.M379V	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.M367V|CHFR_uc010tbs.1_Missense_Mutation_p.M379V|CHFR_uc001uld.2_Missense_Mutation_p.M338V|CHFR_uc010tbt.1_Missense_Mutation_p.M287V	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	379					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CTGGCATCCATACTTTGCACA	0.498													C	133433184	T	C	133433184	3	2	27	1	0	0	0	0	1	0	0	0	3337	1406	49	3	895	3	CHFR	12	133433184	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	18	133433184	418711	5872	29823											
ZMYM5	9205	broad.mit.edu	37	chr13	20412952	20412952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgttgataagctgtctgtcCcttctgtaaaggctttttgc	9	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:20412952C>T	uc010tcn.1	-	5	1025	c.760G>A	c.(760-762)GGA>AGA	p.G254R	ZMYM5_uc001umm.1_Missense_Mutation_p.G78R|ZMYM5_uc001umn.2_Missense_Mutation_p.G254R|ZMYM5_uc001umo.2_Intron	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	254						nucleus	zinc ion binding				0		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		GCTGTCTGTCCCTTCTGTAAA	0.428													T	20412952	C	T	20412952	3	4	27	1	0	0	0	0	1	0	0	0	17700	632	22	4	1376	4	ZMYM5	13	20412952	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08		20412952	94756926	5873	29824											
ZMYM2	7750	broad.mit.edu	37	chr13	20579332	20579332	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaaacagaatcctactaaaGgagctctaaataaatcaaga	5	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:20579332G>T	uc001umr.2	+	6	1550	c.1252G>T	c.(1252-1254)GGA>TGA	p.G418*	ZMYM2_uc001umq.2_Nonsense_Mutation_p.G331*|ZMYM2_uc001ums.2_Nonsense_Mutation_p.G418*|ZMYM2_uc001umt.2_Nonsense_Mutation_p.G418*|ZMYM2_uc010tco.1_RNA	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	418	MYM-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TCCTACTAAAGGAGCTCTAAA	0.313													T	20579332	G	T	20579332	4	4	27	1	0	0	0	0	0	1	0	0	17697	1001	35	5	1262	5	ZMYM2	13	20579332	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	166380	20579332	94590546	5874	29825											
IFT88	8100	broad.mit.edu	37	chr13	21166533	21166533	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcccctttggaagccaagAaaaaagataggtatgtaagt	9	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:21166533A>G	uc001unh.2	+	9	811	c.415A>G	c.(415-417)AAA>GAA	p.K139E	IFT88_uc001uni.2_Missense_Mutation_p.K130E|IFT88_uc001unj.2_Missense_Mutation_p.K129E|IFT88_uc010tcq.1_Missense_Mutation_p.K110E	NM_175605	NP_783195	Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog isoform 1	139					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		GGAAGCCAAGAAAAAAGATAG	0.333													G	21166533	A	G	21166533	3	3	27	1	0	0	0	0	1	0	0	0	7566	247	9	3	441	3	IFT88	13	21166533	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	587201	21166533	94003345	5875	29826											
XPO4	64328	broad.mit.edu	37	chr13	21373315	21373315	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgttacctctgtccaatActgctgtttggtttctgtgt	8	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:21373315A>G	uc001unq.3	-	16	2347	c.2311T>C	c.(2311-2313)TAT>CAT	p.Y771H		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	771					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TCTGTCCAATACTGCTGTTTG	0.433													G	21373315	A	G	21373315	3	3	27	1	0	0	0	0	1	0	0	0	17443	391	14	3	1176	3	XPO4	13	21373315	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	206782	21373315	93796563	5876	29827											
XPO4	64328	broad.mit.edu	37	chr13	21373449	21373449	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcttagctaaattccacCagttctcacattgaattact	4	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:21373449C>T	uc001unq.3	-	16	2213	c.2177G>A	c.(2176-2178)TGG>TAG	p.W726*		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	726					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TAAATTCCACCAGTTCTCACA	0.338													T	21373449	C	T	21373449	4	4	27	1	0	0	0	0	0	1	0	0	17443	595	21	4	1310	4	XPO4	13	21373449	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	134	21373449	93796429	5877	29828											
LATS2	26524	broad.mit.edu	37	chr13	21562282	21562282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgggctcgttggggcccGcacggaggctctgctccatg	15	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:21562282G>A	uc009zzs.2	-	4	2002	c.1637C>T	c.(1636-1638)GCG>GTG	p.A546V	LATS2_uc001unr.3_Missense_Mutation_p.A546V	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	546					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GTTGGGGCCCGCACGGAGGCT	0.652													A	21562282	G	A	21562282	3	1	27	1	0	0	0	0	1	0	0	0	8647	1087	38	1	1649	1	LATS2	13	21562282	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	188833	21562282	93607596	5878	29829											
LATS2	26524	broad.mit.edu	37	chr13	21562755	21562755	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacgtgcgcgcgcggcggCgcctccaggcccggcttctg	16	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:21562755C>T	uc009zzs.2	-	4	1529	c.1164G>A	c.(1162-1164)GCG>GCA	p.A388A	LATS2_uc001unr.3_Silent_p.A388A	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	388					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGCGCGGCGGCGCCTCCAGGC	0.716													T	21562755	C	T	21562755	2	4	27	1	0	0	0	0	0	0	0	1	8647	755	27	1		1	LATS2	13	21562755	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	473	21562755	93607123	5879	29830											
LATS2	26524	broad.mit.edu	37	chr13	21562993	21562993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcggcacgtagagcccgGcggcagggggtgggaaagcg	22	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:21562993G>A	uc009zzs.2	-	4	1291	c.926C>T	c.(925-927)GCC>GTC	p.A309V	LATS2_uc001unr.3_Missense_Mutation_p.A309V	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	309					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GTAGAGCCCGGCGGCAGGGGG	0.736													A	21562993	G	A	21562993	3	1	27	1	0	0	0	0	1	0	0	0	8647	1203	42	2	2360	2	LATS2	13	21562993	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	238	21562993	93606885	5880	29831											
SKA3	221150	broad.mit.edu	37	chr13	21736007	21736007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggattctgtatctatggCctcctcactggtgtgattca	9	11	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:21736007C>T	uc001unt.2	-	5	845	c.751G>A	c.(751-753)GCC>ACC	p.A251T	SKA3_uc001unv.2_Missense_Mutation_p.A169T|SKA3_uc001unu.2_Missense_Mutation_p.A251T	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN	SKA3	251					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding				0						GTATCTATGGCCTCCTCACTG	0.368													T	21736007	C	T	21736007	3	4	27	1	0	0	0	0	1	0	0	0	14354	739	26	2	554	2	SKA3	13	21736007	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	173014	21736007	93433871	5881	29832											
FGF9	2254	broad.mit.edu	37	chr13	22275428	22275428	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcacgtggacactggaaggCgatactatgttgcattaaat	11	7	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:22275428C>A	uc001uog.2	+	3	1318	c.481C>A	c.(481-483)CGA>AGA	p.R161R		NM_002010	NP_002001	P31371	FGF9_HUMAN	fibroblast growth factor 9 precursor	161					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding				0		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		CACTGGAAGGCGATACTATGT	0.423													A	22275428	C	A	22275428	2	1	27	1	0	0	0	0	0	0	0	1	5859	760	27	5		5	FGF9	13	22275428	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	539421	22275428	92894450	5882	29833											
SACS	26278	broad.mit.edu	37	chr13	23904580	23904580	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaagctaacttggtagaaaGgtaacatttaaagcacaccc	7	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:23904580G>T	uc001uon.2	-	10	14024	c.13435C>A	c.(13435-13437)CTT>ATT	p.L4479I	SACS_uc001uoo.2_Missense_Mutation_p.L4332I|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4479	HEPN.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTGGTAGAAAGGTAACATTTA	0.428													T	23904580	G	T	23904580	3	4	27	1	0	0	0	0	1	0	0	0	13804	1000	35	5	308	5	SACS	13	23904580	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1629152	23904580	91265298	5883	29834											
TNFRSF19	55504	broad.mit.edu	37	chr13	24233272	24233272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgccgttatctgcagcGctctggccaccgtcctgctg	12	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:24233272G>A	uc001uov.1	+	6	593	c.529G>A	c.(529-531)GCT>ACT	p.A177T	TNFRSF19_uc001uot.2_Missense_Mutation_p.A177T|TNFRSF19_uc010tcu.1_Missense_Mutation_p.A45T|TNFRSF19_uc001uow.2_Missense_Mutation_p.A177T	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily,	177	Helical; (Potential).				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			kidney(1)|skin(1)	2		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TATCTGCAGCGCTCTGGCCAC	0.557													A	24233272	G	A	24233272	3	1	27	1	0	0	0	0	1	0	0	0	16289	1087	38	1	547	1	TNFRSF19	13	24233272	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	328692	24233272	90936606	5884	29835											
MIPEP	4285	broad.mit.edu	37	chr13	24384050	24384050	+	Frame_Shift_Del	DEL	T	T	-													cacaaagacgagacaccataTtttttggcagtggcttgata							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:24384049_24384049AT>A	uc001uox.4	-	14	1796	c.1668_1668AT>T	c.(1666-1668)aatfs	p.N556fs		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	Homo sapiens mitochondrial intermediate peptidase (MIPEP), nuclear gene encoding mitochondrial protein, mRNA.	556					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		GAGACACCATATTTTTTGGCA	0.348													-	24384050	T	-	24384050	7	5	27	1	0	1	0	1	0	0	0	0	9592	1493	52	0	494	0	MIPEP	13	24384050	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	150778	24384050	90785828	5885	29836											
MIPEP	4285	broad.mit.edu	37	chr13	24453405	24453405	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcaaagaaatgagtgagtAccttgtttctggatcaaggg	13	5	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:24453405A>G	uc001uox.3	-	4	639	c.539_splice	c.e4+1	p.R180_splice		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase precursor						protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		ATGAGTGAGTACCTTGTTTCT	0.264													G	24453405	A	G	24453405	5	3	27	1	0	0	0	0	0	0	1	0	9592	405	14	3	1664	3	MIPEP	13	24453405	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	69355	24453405	90716473	5886	29837											
PARP4	143	broad.mit.edu	37	chr13	25072362	25072362	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcctggcctccctccatTcccacctggaaaacaggatg	8	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:25072362T>C	uc001upl.2	-	6	589	c.483A>G	c.(481-483)GGA>GGG	p.G161G	PARP4_uc010tdc.1_Silent_p.G161G	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	161					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CTCCCTCCATTCCCACCTGGA	0.453													C	25072362	T	C	25072362	2	2	27	1	0	0	0	0	0	0	0	1	11463	1770	62	3		3	PARP4	13	25072362	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	618957	25072362	90097516	5887	29838											
ATP12A	479	broad.mit.edu	37	chr13	25262564	25262565	+	Frame_Shift_Ins	INS	-	-	G													agttcctcaagcagatggtgINSggggggttctctatcctcct					rs35191129		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:25262563_25262564T>TG	uc010aaa.3	+	3	668_669	c.335_336T>TG	c.(334-336)gtgfs	p.V112fs	ATP12A_uc001upp.3_Frame_Shift_Ins_p.V112fs	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	112					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.V112V(2)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AAGCAGATGGTGGGGGGGTTCT	0.584													G	25262565	-	G	25262564	7	5	27	1	0	1	1	0	0	0	0	0	1122	1335	47	0	350	0	ATP12A	13	25262564	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	190202	25262564	89907314	5888	29839											
ATP12A	479	broad.mit.edu	37	chr13	25276190	25276190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatcgcctcaacattgctGtggagcaagttaacaaacgg	9	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:25276190G>A	uc001upp.2	+	14	2186	c.1999G>A	c.(1999-2001)GTG>ATG	p.V667M	ATP12A_uc010aaa.2_Missense_Mutation_p.V673M	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	667	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CAACATTGCTGTGGAGCAAGT	0.473													A	25276190	G	A	25276190	3	1	27	1	0	0	0	0	1	0	0	0	1122	1377	48	4	2071	4	ATP12A	13	25276190	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	13626	25276190	89893688	5889	29840											
RNF17	56163	broad.mit.edu	37	chr13	25451230	25451230	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccttaagggatctaggggAgacaagaataccatattgtc	10	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:25451230A>G	uc001upr.2	+	34	4720	c.4679A>G	c.(4678-4680)GAG>GGG	p.E1560G	RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.E1556G|RNF17_uc001ups.2_Missense_Mutation_p.E1499G|RNF17_uc010aac.2_Missense_Mutation_p.E752G|RNF17_uc010aad.2_Missense_Mutation_p.E570G	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1560					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GATCTAGGGGAGACAAGAATA	0.463													G	25451230	A	G	25451230	3	3	27	1	0	0	0	0	1	0	0	0	13461	304	11	3	4813	3	RNF17	13	25451230	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	175040	25451230	89718648	5890	29841											
CENPJ	55835	broad.mit.edu	37	chr13	25457393	25457393	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatctgtacttcgtttcttgAtgaccgtttgcatatacggt	9	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:25457393A>T	uc001upt.3	-	17	4192	c.3939T>A	c.(3937-3939)CAT>CAA	p.H1313Q	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	1313					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TCGTTTCTTGATGACCGTTTG	0.443													T	25457393	A	T	25457393	3	4	27	1	0	0	0	0	1	0	0	0	3234	330	12	5	81	5	CENPJ	13	25457393	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	6163	25457393	89712485	5891	29842											
FAM123A	219287	broad.mit.edu	37	chr13	25745239	25745239	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctctcccttgccgttttcCgagcgcccgttcttcttcag	9	16	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:25745239C>T	uc001uqb.2	-	1	619	c.519G>A	c.(517-519)TCG>TCA	p.S173S	FAM123A_uc001uqa.2_Silent_p.S173S|FAM123A_uc001uqc.2_Silent_p.S173S	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	173										ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGCCGTTTTCCGAGCGCCCGT	0.692													T	25745239	C	T	25745239	2	4	27	1	0	0	0	0	0	0	0	1	5422	639	23	1		1	FAM123A	13	25745239	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	287846	25745239	89424639	5892	29843											
MTMR6	9107	broad.mit.edu	37	chr13	25841985	25841985	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctctgggaacaatgaaaTgcacagttctgaagttcttg	9	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:25841985T>C	uc001uqf.3	-	3	555	c.236A>G	c.(235-237)CAT>CGT	p.H79R	MTMR6_uc001uqe.1_Missense_Mutation_p.H79R	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	79						cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)|skin(2)	4		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		AACAATGAAATGCACAGTTCT	0.398													C	25841985	T	C	25841985	3	2	27	1	0	0	0	0	1	0	0	0	9947	1464	51	3	1677	3	MTMR6	13	25841985	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	96746	25841985	89327893	5893	29844											
ATP8A2	51761	broad.mit.edu	37	chr13	26163837	26163837	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaggaggactctttggaTgtaagtagtttttcaaagtt	11	3	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:26163837T>C	uc001uqk.2	+	24	2353	c.2211T>C	c.(2209-2211)GAT>GAC	p.D737D	ATP8A2_uc010tdi.1_Silent_p.D697D|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Silent_p.D247D	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	697	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACTCTTTGGATGTAAGTAGTT	0.363													C	26163837	T	C	26163837	2	2	27	1	0	0	0	0	0	0	0	1	1193	1478	51	3		3	ATP8A2	13	26163837	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	321852	26163837	89006041	5894	29845											
RNF6	6049	broad.mit.edu	37	chr13	26788241	26788242	+	Frame_Shift_Ins	INS	-	-	A													atcatcactttcatttagtaINSaaaaaaagtgagcaaggcga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:26788240_26788241T>TA	uc001uqo.3	-	4	2123_2124	c.1778_1779A>TA	c.(1777-1779)ttafs	p.L593fs	RNF6_uc001uqn.1_Intron|RNF6_uc001uqp.3_Frame_Shift_Ins_p.L593fs|RNF6_uc001uqq.3_Frame_Shift_Ins_p.L593fs|RNF6_uc010tdk.2_Frame_Shift_Ins_p.L237fs	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA.	593					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	PML body|axon|cytoplasm	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TTTCATTTAGTAAAAAAAAGTG	0.406													A	26788242	-	A	26788241	7	5	27	1	0	1	1	0	0	0	0	0	13498	372	13	0	283	0	RNF6	13	26788241	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	624404	26788241	88381637	5895	29846											
WASF3	10810	broad.mit.edu	37	chr13	27241724	27241724	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagaccagcaagtggtttcAaagaacagcattcctaatcc	7	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:27241724A>G	uc001uqv.2	+	5	564	c.339A>G	c.(337-339)TCA>TCG	p.S113S	WASF3_uc001uqw.2_Silent_p.S113S	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	113					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			pancreas(1)	1	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		AAGTGGTTTCAAAGAACAGCA	0.413													G	27241724	A	G	27241724	2	3	27	1	0	0	0	0	0	0	0	1	17251	117	5	3		3	WASF3	13	27241724	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	453483	27241724	87928154	5896	29847											
WASF3	10810	broad.mit.edu	37	chr13	27250821	27250821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgtctcagagtgtgtacCatggagcgtcttccgaggga	15	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:27250821C>T	uc001uqv.2	+	7	901	c.676C>T	c.(676-678)CAT>TAT	p.H226Y	WASF3_uc001uqw.2_Intron	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	226					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			pancreas(1)	1	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GAGTGTGTACCATGGAGCGTC	0.517													T	27250821	C	T	27250821	3	4	27	1	0	0	0	0	1	0	0	0	17251	594	21	4	694	4	WASF3	13	27250821	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	9097	27250821	87919057	5897	29848											
WASF3	10810	broad.mit.edu	37	chr13	27259836	27259837	+	Frame_Shift_Ins	INS	-	-	A													gtctgcaggaattcaactgaINSaaaaggtgcaggagcagcgg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:27259835_27259836G>GA	uc001uqv.3	+	9	1587_1588	c.1362_1363G>GA	c.(1360-1365)ctgaaafs	p.L454fs	WASF3_uc001uqw.3_Frame_Shift_Ins_p.L451fs	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	454	WH2.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GAATTCAACTGAAAAAGGTGCA	0.505													A	27259837	-	A	27259836	7	5	27	1	0	1	1	0	0	0	0	0	17251	247	9	0	1393	0	WASF3	13	27259836	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	9015	27259836	87910042	5898	29849											
GPR12	2835	broad.mit.edu	37	chr13	27333537	27333537	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatggtacgtcagagcgtagTacagtgagaggtagcggtca	15	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:27333537T>A	uc010aal.2	-	2	650	c.428A>T	c.(427-429)TAC>TTC	p.Y143F	GPR12_uc010tdl.1_5'UTR	NM_005288	NP_005279	P47775	GPR12_HUMAN	G protein-coupled receptor 12	143	Cytoplasmic (Potential).					integral to plasma membrane					0	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CAGAGCGTAGTACAGTGAGAG	0.577													A	27333537	T	A	27333537	3	1	27	1	0	0	0	0	1	0	0	0	6635	1638	57	5	580	5	GPR12	13	27333537	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	73701	27333537	87836341	5899	29850											
CDX2	1045	broad.mit.edu	37	chr13	28537373	28537373	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctctgggacacttctcagaGgacctggctgaggctgggga	16	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:28537373G>T	uc001urv.2	-	3	995	c.821C>A	c.(820-822)CCT>CAT	p.P274H		NM_001265	NP_001256	Q99626	CDX2_HUMAN	caudal type homeobox 2	274					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		ACTTCTCAGAGGACCTGGCTG	0.552			T	ETV6	AML								T	28537373	G	T	28537373	3	4	27	1	0	0	0	0	1	0	0	0	3183	1000	35	5	124	5	CDX2	13	28537373	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1203836	28537373	86632505	5900	29851											
PAN3	255967	broad.mit.edu	37	chr13	28866538	28866538	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctagatgctggtgtgccagAaaaaataagcctgatttcca	10	8	0	3	rs77051153		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:28866538A>G	uc001urz.2	+	18	2113	c.2105A>G	c.(2104-2106)GAA>GGA	p.E702G	PAN3_uc001ury.2_Missense_Mutation_p.E536G|PAN3_uc001urx.2_Missense_Mutation_p.E648G	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	848	Interaction with PAN2.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GGTGTGCCAGAAAAAATAAGC	0.338													G	28866538	A	G	28866538	3	3	27	1	0	0	0	0	1	0	0	0	11415	246	9	3	2617	3	PAN3	13	28866538	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	329165	28866538	86303340	5901	29852											
FLT1	2321	broad.mit.edu	37	chr13	28931709	28931709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgaacagtgaggtatgCtgaactttccacagagccct	9	11	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:28931709C>T	uc001usb.3	-	15	2515	c.2230G>A	c.(2230-2232)GCA>ACA	p.A744T		NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	744	Ig-like C2-type 7.|Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTGAGGTATGCTGAACTTTCC	0.448													T	28931709	C	T	28931709	3	4	27	1	0	0	0	0	1	0	0	0	5941	797	28	2	1850	2	FLT1	13	28931709	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	65171	28931709	86238169	5902	29853											
FLT1	2321	broad.mit.edu	37	chr13	28959109	28959109	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgacagtctaaagtggtggAactgctgatggccactgtgt	13	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:28959109A>C	uc001usb.3	-	14	2314	c.2029T>G	c.(2029-2031)TCC>GCC	p.S677A	FLT1_uc010aar.1_Missense_Mutation_p.S677A	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	677	Ig-like C2-type 7.|Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AAAGTGGTGGAACTGCTGATG	0.453													C	28959109	A	C	28959109	3	2	27	1	0	0	0	0	1	0	0	0	5941	246	9	5	2145	5	FLT1	13	28959109	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	27400	28959109	86210769	5903	29854											
MTUS2	23281	broad.mit.edu	37	chr13	29855913	29855913	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taaggacacacccaagggggCcggccgggtggcccctccag	15	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:29855913C>G	uc001usl.3	+	4	2805	c.2747C>G	c.(2746-2748)GCC>GGC	p.A916G		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	906	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						CCCAAGGGGGCCGGCCGGGTG	0.562													G	29855913	C	G	29855913	3	3	27	1	0	0	0	0	1	0	0	0	9966	739	26	5	2761	5	MTUS2	13	29855913	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	896804	29855913	85313965	5904	29855											
ALOX5AP	241	broad.mit.edu	37	chr13	31338107	31338107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctacatatttgggaaacGcatcatactcttcctgttcc	7	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:31338107G>A	uc001utf.1	+	5	424	c.350G>A	c.(349-351)CGC>CAC	p.R117H	ALOX5AP_uc010tdr.1_Missense_Mutation_p.R174H	NM_001629	NP_001620	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	117	Inhibitor binding.|Helical.				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)		TTTGGGAAACGCATCATACTC	0.408													A	31338107	G	A	31338107	3	1	27	1	0	0	0	0	1	0	0	0	541	1087	38	1	368	1	ALOX5AP	13	31338107	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1482194	31338107	83831771	5905	29856											
B3GALTL	145173	broad.mit.edu	37	chr13	31821211	31821211	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctaaacaagaaggtgcaTggaccatacttccgttgtta	10	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:31821211T>C	uc010aaz.2	+	5	432	c.322T>C	c.(322-324)TGG>CGG	p.W108R		NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	108	Lumenal (Potential).				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		AGAAGGTGCATGGACCATACT	0.418													C	31821211	T	C	31821211	3	2	27	1	0	0	0	0	1	0	0	0	1252	1464	51	3	340	3	B3GALTL	13	31821211	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	483104	31821211	83348667	5906	29857											
RXFP2	122042	broad.mit.edu	37	chr13	32332460	32332460	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggatattttccctgtgggAatcttaccaagtgcttaccc	8	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:32332460A>G	uc001utt.2	+	2	231	c.160A>G	c.(160-162)AAT>GAT	p.N54D	RXFP2_uc010aba.2_Missense_Mutation_p.N37D	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	54	Extracellular (Potential).|LDL-receptor class A.					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TCCCTGTGGGAATCTTACCAA	0.488													G	32332460	A	G	32332460	3	3	27	1	0	0	0	0	1	0	0	0	13760	246	9	3	166	3	RXFP2	13	32332460	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	511249	32332460	82837418	5907	29858											
FRY	10129	broad.mit.edu	37	chr13	32808832	32808832	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagcaacctctgtcagcAcatgccttatctgaccttct	5	15	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:32808832A>G	uc001utx.2	+	42	6145	c.5649A>G	c.(5647-5649)GCA>GCG	p.A1883A	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1883					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTCTGTCAGCACATGCCTTAT	0.512													G	32808832	A	G	32808832	2	3	27	1	0	0	0	0	0	0	0	1	6063	146	6	3		3	FRY	13	32808832	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	476372	32808832	82361046	5908	29859											
FRY	10129	broad.mit.edu	37	chr13	32839709	32839709	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcctggacatgactgagggGgaagaaaaaggcaatcgggc	16	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:32839709G>T	uc001utx.2	+	54	8398	c.7902G>T	c.(7900-7902)GGG>GGT	p.G2634G	FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Silent_p.G189G|FRY_uc001utz.2_Silent_p.G159G|FRY_uc010tdx.1_Silent_p.G4G	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGACTGAGGGGGAAGAAAAAG	0.502													T	32839709	G	T	32839709	2	4	27	1	0	0	0	0	0	0	0	1	6063	1219	43	5		5	FRY	13	32839709	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	30877	32839709	82330169	5909	29860											
FRY	10129	broad.mit.edu	37	chr13	32841346	32841346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtctctccccctccctcGcccttcttctcagccatcct	5	21	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:32841346G>A	uc001utx.2	+	55	8482	c.7986G>A	c.(7984-7986)TCG>TCA	p.S2662S	FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Silent_p.S217S|FRY_uc001utz.2_Silent_p.S187S|FRY_uc010tdx.1_Silent_p.S32S	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCCCTCCCTCGCCCTTCTTCT	0.542													A	32841346	G	A	32841346	2	1	27	1	0	0	0	0	0	0	0	1	6063	1074	38	1		1	FRY	13	32841346	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1637	32841346	82328532	5910	29861											
FRY	10129	broad.mit.edu	37	chr13	32868689	32868689	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgaactcggcaaagctttgcGgcagatcagggagtgcaggt	15	9	1	1	rs147607259	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:32868689G>T	uc001utx.2	+	60	9261	c.8765G>T	c.(8764-8766)CGG>CTG	p.R2922L	FRY_uc010tdw.1_RNA|FRY_uc001utz.2_Missense_Mutation_p.R453L|FRY_uc010tdx.1_Missense_Mutation_p.R292L	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2922					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAAGCTTTGCGGCAGATCAGG	0.547													T	32868689	G	T	32868689	3	4	27	1	0	0	0	0	1	0	0	0	6063	1116	39	5	9003	5	FRY	13	32868689	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	27343	32868689	82301189	5911	29862											
BRCA2	675	broad.mit.edu	37	chr13	32906609	32906609	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctagcaagactaggaaaaaaAttttccatgaagcaaacgct	7	8	0	2	rs80359778		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:32906609A>T	uc001uub.1	+	10	1221	c.994A>T	c.(994-996)ATT>TTT	p.I332F	BRCA2_uc001uua.1_Missense_Mutation_p.I209F	NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	332					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAGGAAAAAAATTTTCCATGA	0.299			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			T	32906609	A	T	32906609	3	4	27	1	0	0	0	0	1	0	0	0	1499	101	4	5	1028	5	BRCA2	13	32906609	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	37920	32906609	82263269	5912	29863											
KL	9365	broad.mit.edu	37	chr13	33635256	33635256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcaagagctcggccatcaCgtcaagctttggataacgat	9	10	3	1	rs138723796	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:33635256C>T	uc001uus.2	+	4	2048	c.2040C>T	c.(2038-2040)CAC>CAT	p.H680H	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	680	Glycosyl hydrolase-1 2.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TCGGCCATCACGTCAAGCTTT	0.572													T	33635256	C	T	33635256	2	4	27	1	0	0	0	0	0	0	0	1	8331	535	19	1		1	KL	13	33635256	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	728647	33635256	81534622	5913	29864											
STARD13	90627	broad.mit.edu	37	chr13	33692261	33692261	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaagaggctcagggaggTcccggaagaactgtttcacc	13	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:33692261T>A	uc001uuw.2	-	8	2348	c.2222A>T	c.(2221-2223)GAC>GTC	p.D741V	STARD13_uc001uuu.2_Missense_Mutation_p.D733V|STARD13_uc001uuv.2_Missense_Mutation_p.D623V|STARD13_uc001uux.2_Missense_Mutation_p.D706V|STARD13_uc010tec.1_RNA	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	741	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTCAGGGAGGTCCCGGAAGAA	0.463													A	33692261	T	A	33692261	3	1	27	1	0	0	0	0	1	0	0	0	15255	1667	58	5	1147	5	STARD13	13	33692261	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	57005	33692261	81477617	5914	29865											
STARD13	90627	broad.mit.edu	37	chr13	33703177	33703177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccacatcactgggtgtcGtccgaccttctgagacagag	10	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:33703177G>A	uc001uuw.2	-	5	1763	c.1637C>T	c.(1636-1638)ACG>ATG	p.T546M	STARD13_uc001uuu.2_Missense_Mutation_p.T538M|STARD13_uc001uuv.2_Missense_Mutation_p.T428M|STARD13_uc001uux.2_Missense_Mutation_p.T511M|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.T531M	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	546					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		ACTGGGTGTCGTCCGACCTTC	0.483													A	33703177	G	A	33703177	3	1	27	1	0	0	0	0	1	0	0	0	15255	1145	40	1	1744	1	STARD13	13	33703177	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	10916	33703177	81466701	5915	29866											
STARD13	90627	broad.mit.edu	37	chr13	33703965	33703965	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggcccactgatcaccagGccacctgtccgcccagaccc	9	19	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:33703965G>A	uc001uuw.2	-	5	975	c.849C>T	c.(847-849)GGC>GGT	p.G283G	STARD13_uc001uuu.2_Silent_p.G275G|STARD13_uc001uuv.2_Silent_p.G165G|STARD13_uc001uux.2_Silent_p.G248G|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Silent_p.G268G	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	283					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TGATCACCAGGCCACCTGTCC	0.567													A	33703965	G	A	33703965	2	1	27	1	0	0	0	0	0	0	0	1	15255	1190	42	2		2	STARD13	13	33703965	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	788	33703965	81465913	5916	29867											
NBEA	26960	broad.mit.edu	37	chr13	36242655	36242655	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggacttgtcccatgaccagAggtgagctgcgtcaaggaca	13	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:36242655A>C	uc001uvb.2	+	57	8955	c.8749A>C	c.(8749-8751)AGG>CGG	p.R2917R	NBEA_uc010abi.2_Silent_p.R1575R|NBEA_uc010tef.1_Silent_p.R710R|NBEA_uc001uvd.2_Silent_p.R495R	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2917	WD 5.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CCATGACCAGAGGTGAGCTGC	0.488													C	36242655	A	C	36242655	2	2	27	1	0	0	0	0	0	0	0	1	10187	318	11	5		5	NBEA	13	36242655	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2538690	36242655	78927223	5917	29868											
DCLK1	9201	broad.mit.edu	37	chr13	36348794	36348794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctcacatcctggttgcGtcttcgtcggaaaacctgcc	9	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:36348794G>A	uc001uvf.2	-	18	2408	c.2175C>T	c.(2173-2175)GAC>GAT	p.D725D	DCLK1_uc001uve.3_Silent_p.D418D|DCLK1_uc010teh.1_Missense_Mutation_p.R394C|DCLK1_uc010abk.2_Silent_p.D245D	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	Error:Variant_position_missing_in_O15075_after_alignment					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCCTGGTTGCGTCTTCGTCGG	0.542													A	36348794	G	A	36348794	2	1	27	1	0	0	0	0	0	0	0	1	4291	1136	40	1		1	DCLK1	13	36348794	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	106139	36348794	78821084	5918	29869											
DCLK1	9201	broad.mit.edu	37	chr13	36699987	36699987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggcaaattcacgttatcCgacagagttcgggtcaaatc	11	9	2	1	rs141898843		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:36699987C>T	uc001uvf.2	-	2	521	c.288G>A	c.(286-288)TCG>TCA	p.S96S		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	96	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCACGTTATCCGACAGAGTTC	0.517													T	36699987	C	T	36699987	2	4	27	1	0	0	0	0	0	0	0	1	4291	639	23	1		1	DCLK1	13	36699987	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	351193	36699987	78469891	5919	29870											
SPG20	23111	broad.mit.edu	37	chr13	36909169	36909169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgcttacctgaagaaaccCgggaggacggtttagaaccg	12	10	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:36909169C>T	uc001uvn.2	-	3	1069	c.799G>A	c.(799-801)GGG>AGG	p.G267R	SPG20_uc010ten.1_Missense_Mutation_p.G267R|SPG20_uc001uvm.2_Missense_Mutation_p.G267R|SPG20_uc001uvo.2_Missense_Mutation_p.G267R|SPG20_uc001uvq.2_Missense_Mutation_p.G267R|SPG20_uc001uvp.2_Missense_Mutation_p.G267R	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	267					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TGAAGAAACCCGGGAGGACGG	0.393													T	36909169	C	T	36909169	3	4	27	1	0	0	0	0	1	0	0	0	15041	652	23	1	1233	1	SPG20	13	36909169	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	209182	36909169	78260709	5920	29871											
FAM48A	55578	broad.mit.edu	37	chr13	37614783	37614783	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgttactggactgcctgTagtcacgtatttctgctatg	9	9	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:37614783T>C	uc001uwg.2	-	8	691	c.443A>G	c.(442-444)TAC>TGC	p.Y148C	FAM48A_uc010abt.2_Missense_Mutation_p.Y149C|FAM48A_uc001uwh.2_Missense_Mutation_p.Y149C|FAM48A_uc001uwi.2_Missense_Mutation_p.Y148C|FAM48A_uc001uwj.2_Missense_Mutation_p.Y149C|FAM48A_uc001uwk.2_Missense_Mutation_p.Y148C|FAM48A_uc010tes.1_Missense_Mutation_p.Y136C|FAM48A_uc001uwl.1_Missense_Mutation_p.Y148C	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	148					autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		GGACTGCCTGTAGTCACGTAT	0.358													C	37614783	T	C	37614783	3	2	27	1	0	0	0	0	1	0	0	0	5572	1638	57	3	1972	3	FAM48A	13	37614783	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	705614	37614783	77555095	5921	29872											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37678704	37678705	+	Frame_Shift_Ins	INS	-	-	T													taatcttttcatatttttgtINSttttttgtcatagcccttag					rs56252523		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:37678703_37678704G>GT	uc001uwm.1	-	0	1098_1099	c.690_691C>AC	c.(688-693)aaacaafs	p.K230fs		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	Homo sapiens casein kinase 1, alpha 1-like (CSNK1A1L), mRNA.	230	Protein kinase.		K -> N (in dbSNP:rs56252523).		Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TCATATTTTTGTTTTTTTGTCA	0.426													T	37678705	-	T	37678704	7	5	27	1	0	1	1	0	0	0	0	0	3951	1722	60	0	327	0	CSNK1A1L	13	37678704	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	63921	37678704	77491174	5922	29873											
POSTN	10631	broad.mit.edu	37	chr13	38153250	38153250	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattcattcaccagaagtgtAtcatttacctatcaaaatag	4	8	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:38153250A>G	uc001uwo.3	-	14	1918	c.1800T>C	c.(1798-1800)GAT>GAC	p.D600D	POSTN_uc010tet.1_Silent_p.D128D|POSTN_uc001uwp.3_Silent_p.D600D|POSTN_uc001uwr.2_Silent_p.D600D|POSTN_uc001uwq.2_Silent_p.D600D|POSTN_uc010teu.1_Silent_p.D600D|POSTN_uc010tev.1_Silent_p.D600D|POSTN_uc010tew.1_Silent_p.D600D	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	600	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CCAGAAGTGTATCATTTACCT	0.308													G	38153250	A	G	38153250	2	3	27	1	0	0	0	0	0	0	0	1	12259	446	16	3		3	POSTN	13	38153250	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	474546	38153250	77016628	5923	29874											
FREM2	341640	broad.mit.edu	37	chr13	39263259	39263259	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aactgacatggattcagatgAttctctgctgctttttgtgc	9	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:39263259A>T	uc001uwv.2	+	1	2087	c.1778A>T	c.(1777-1779)GAT>GTT	p.D593V		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	593	CSPG 3.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GATTCAGATGATTCTCTGCTG	0.537													T	39263259	A	T	39263259	3	4	27	1	0	0	0	0	1	0	0	0	6045	333	12	5	1780	5	FREM2	13	39263259	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1110009	39263259	75906619	5924	29875											
FREM2	341640	broad.mit.edu	37	chr13	39432107	39432107	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatccctgttgatgtatgaCgacacttccaaagctaagga	9	9	0	2	rs142939064		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:39432107C>T	uc001uwv.2	+	13	7461	c.7152C>T	c.(7150-7152)GAC>GAT	p.D2384D	FREM2_uc001uww.2_Silent_p.D470D	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2384	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGATGTATGACGACACTTCCA	0.418													T	39432107	C	T	39432107	2	4	27	1	0	0	0	0	0	0	0	1	6045	535	19	1		1	FREM2	13	39432107	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	168848	39432107	75737771	5925	29876											
FREM2	341640	broad.mit.edu	37	chr13	39450201	39450201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtcagctgatcatccagGcctgacattttccctccgcc	7	16	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:39450201G>A	uc001uwv.2	+	19	8633	c.8324G>A	c.(8323-8325)GGC>GAC	p.G2775D		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2775	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GATCATCCAGGCCTGACATTT	0.418													A	39450201	G	A	39450201	3	1	27	1	0	0	0	0	1	0	0	0	6045	1203	42	2	8398	2	FREM2	13	39450201	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	18094	39450201	75719677	5926	29877											
C13orf23	80209	broad.mit.edu	37	chr13	39587269	39587269	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgggttgccagttaaaggaAaattgttggtcaaagaagta	12	3	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:39587269A>T	uc001uwy.2	-	11	2993	c.2120T>A	c.(2119-2121)TTT>TAT	p.F707Y	C13orf23_uc001uwz.2_Missense_Mutation_p.F685Y	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	707	Ser-rich.									ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)		AGTTAAAGGAAAATTGTTGGT	0.463													T	39587269	A	T	39587269	3	4	27	1	0	0	0	0	1	0	0	0	1721	14	1	5	726	5	C13orf23	13	39587269	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	137068	39587269	75582609	5927	29878											
C13orf23	80209	broad.mit.edu	37	chr13	39587655	39587655	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggccacgcaaaagggaggcTgaggagccacagctaactgg	16	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:39587655T>C	uc001uwy.2	-	11	2607	c.1734A>G	c.(1732-1734)TCA>TCG	p.S578S	C13orf23_uc001uwz.2_Silent_p.S556S	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	578	Ser-rich.									ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)		AAAGGGAGGCTGAGGAGCCAC	0.527													C	39587655	T	C	39587655	2	2	27	1	0	0	0	0	0	0	0	1	1721	1567	55	3		3	C13orf23	13	39587655	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	386	39587655	75582223	5928	29879											
COG6	57511	broad.mit.edu	37	chr13	40251660	40251660	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcttatccaagttccaaCtgacttctgatgaaatgagt	6	10	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:40251660C>T	uc001uxh.2	+	5	584	c.484C>T	c.(484-486)CTG>TTG	p.L162L	COG6_uc001uxi.2_Silent_p.L110L|COG6_uc010acb.2_Silent_p.L162L	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	162					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		CAAGTTCCAACTGACTTCTGA	0.363													T	40251660	C	T	40251660	2	4	27	1	0	0	0	0	0	0	0	1	3662	564	20	4		4	COG6	13	40251660	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	664005	40251660	74918218	5929	29880											
COG6	57511	broad.mit.edu	37	chr13	40261756	40261756	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaattgaaatgcattctcAtgaccctttgaggtatagta	7	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:40261756A>G	uc001uxh.2	+	9	1005	c.905A>G	c.(904-906)CAT>CGT	p.H302R	COG6_uc001uxi.2_Missense_Mutation_p.H250R|COG6_uc010acb.2_Missense_Mutation_p.H302R	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	302					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ATGCATTCTCATGACCCTTTG	0.413													G	40261756	A	G	40261756	3	3	27	1	0	0	0	0	1	0	0	0	3662	217	8	3	939	3	COG6	13	40261756	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	10096	40261756	74908122	5930	29881											
MRPS31	10240	broad.mit.edu	37	chr13	41331010	41331010	+	Splice_Site	DEL	T	T	-													agattacaaagcctgataccTttttttaagatcatccgtct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:41331009_41331009CT>C	uc001uxm.4	-	4	815	c.740_splice	c.e4+1	p.R247_splice		NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.	247						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		AGCCTGATACCTTTTTTTAAG	0.393													-	41331010	T	-	41331010	8	5	27	1	0	1	0	1	0	0	1	0	9841	1623	56	0	464	0	MRPS31	13	41331010	Splice_Site	DEL	T	TCGA-BR-6452-01A-12D-1800-08	1069254	41331010	73838868	5931	29882											
ELF1	1997	broad.mit.edu	37	chr13	41508099	41508099	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggcactgtttggagtgttActgtatgcaactgctgattc	12	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:41508099A>G	uc001uxs.2	-	9	1695	c.1322T>C	c.(1321-1323)GTA>GCA	p.V441A	ELF1_uc010tfc.1_Missense_Mutation_p.V417A|ELF1_uc010acd.2_Missense_Mutation_p.V334A	NM_172373	NP_758961	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription	441					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TTGGAGTGTTACTGTATGCAA	0.423													G	41508099	A	G	41508099	3	3	27	1	0	0	0	0	1	0	0	0	5053	391	14	3	541	3	ELF1	13	41508099	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	177089	41508099	73661779	5932	29883											
KBTBD6	89890	broad.mit.edu	37	chr13	41706252	41706252	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcctcactgagagacacacgAcccgtgtagcagtagtcgac	11	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:41706252A>T	uc001uxu.1	-	1	685	c.396T>A	c.(394-396)GGT>GGA	p.G132G	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Silent_p.G66G|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	132	BTB.						protein binding			ovary(1)|skin(1)	2		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GAGACACACGACCCGTGTAGC	0.602													T	41706252	A	T	41706252	2	4	27	1	0	0	0	0	0	0	0	1	7997	262	10	5		5	KBTBD6	13	41706252	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	198153	41706252	73463626	5933	29884											
NAA16	79612	broad.mit.edu	37	chr13	41902913	41902913	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagccagtgaagtgttcaaaAacttgattgatcgaaatgca	9	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:41902913A>G	uc001uyf.2	+	7	1069	c.745A>G	c.(745-747)AAC>GAC	p.N249D	NAA16_uc010tfg.1_RNA|NAA16_uc001uye.3_Missense_Mutation_p.N249D|NAA16_uc001uyd.3_Missense_Mutation_p.N249D	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	NMDA receptor regulated 1-like protein isoform	249	TPR 4.				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			central_nervous_system(1)	1						AGTGTTCAAAAACTTGATTGA	0.289													G	41902913	A	G	41902913	3	3	27	1	0	0	0	0	1	0	0	0	10119	14	1	3	771	3	NAA16	13	41902913	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	196661	41902913	73266965	5934	29885											
NAA16	79612	broad.mit.edu	37	chr13	41936272	41936272	+	Frame_Shift_Del	DEL	A	A	-													ggagatacggggatgccttgAaaaaatgtcatgaagtagaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:41936271_41936271GA>G	uc001uyf.2	+	12	1839	c.1515_1515GA>G	c.(1513-1515)ttgfs	p.L505fs	NAA16_uc010tfg.1_Non-coding_Transcript	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	Homo sapiens N(alpha)-acetyltransferase 16, NatA auxiliary subunit (NAA16), transcript variant 1, mRNA.	505					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						GGGATGCCTTGAAAAAATGTC	0.393													-	41936272	A	-	41936272	7	5	27	1	0	1	0	1	0	0	0	0	10119	247	9	0	1599	0	NAA16	13	41936272	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	33359	41936272	73233606	5935	29886											
KIAA0564	23078	broad.mit.edu	37	chr13	42295544	42295544	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgacaacttctctggtagAataaggatagttaataatcc	8	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:42295544A>G	uc001uyj.2	-	25	2996	c.2926T>C	c.(2926-2928)TCT>CCT	p.S976P	KIAA0564_uc001uyk.2_Missense_Mutation_p.S976P	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	976						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TCTCTGGTAGAATAAGGATAG	0.433													G	42295544	A	G	42295544	3	3	27	1	0	0	0	0	1	0	0	0	8185	246	9	3	2879	3	KIAA0564	13	42295544	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	359272	42295544	72874334	5936	29887											
KIAA0564	23078	broad.mit.edu	37	chr13	42303761	42303761	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacacgtgacatttgttggaGctttgtcagcctcatctact	8	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:42303761G>T	uc001uyj.2	-	23	2625	c.2555C>A	c.(2554-2556)GCT>GAT	p.A852D	KIAA0564_uc001uyk.2_Missense_Mutation_p.A852D	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	852						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		ATTTGTTGGAGCTTTGTCAGC	0.348													T	42303761	G	T	42303761	3	4	27	1	0	0	0	0	1	0	0	0	8185	971	34	5	3258	5	KIAA0564	13	42303761	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	8217	42303761	72866117	5937	29888											
KIAA0564	23078	broad.mit.edu	37	chr13	42385394	42385394	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttagtaacagcactgtgaAgattttcattaggatactgt	8	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:42385394A>G	uc001uyj.2	-	17	2100	c.2030T>C	c.(2029-2031)CTT>CCT	p.L677P	KIAA0564_uc001uyk.2_Missense_Mutation_p.L677P	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	677						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		AGCACTGTGAAGATTTTCATT	0.383													G	42385394	A	G	42385394	3	3	27	1	0	0	0	0	1	0	0	0	8185	72	3	3	3807	3	KIAA0564	13	42385394	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	81633	42385394	72784484	5938	29889											
KIAA0564	23078	broad.mit.edu	37	chr13	42407516	42407516	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatacccacctttgcaatAcagcaagcgtgcccgcattc	6	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:42407516A>C	uc001uyj.2	-	13	1647	c.1577T>G	c.(1576-1578)GTA>GGA	p.V526G	KIAA0564_uc001uyk.2_Missense_Mutation_p.V526G	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	526						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		CCTTTGCAATACAGCAAGCGT	0.498													C	42407516	A	C	42407516	3	2	27	1	0	0	0	0	1	0	0	0	8185	391	14	5	4276	5	KIAA0564	13	42407516	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	22122	42407516	72762362	5939	29890											
KIAA0564	23078	broad.mit.edu	37	chr13	42457538	42457538	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctttaaaacaccttcCacagccatcttcccttcatg	2	17	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:42457538C>T	uc001uyj.2	-	9	1135	c.1065G>A	c.(1063-1065)GTG>GTA	p.V355V	KIAA0564_uc001uyk.2_Silent_p.V355V	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	355						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		AAACACCTTCCACAGCCATCT	0.259													T	42457538	C	T	42457538	2	4	27	1	0	0	0	0	0	0	0	1	8185	581	21	4		4	KIAA0564	13	42457538	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	50022	42457538	72712340	5940	29891											
DGKH	160851	broad.mit.edu	37	chr13	42729868	42729868	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacgcctgctcccacgcccgAcccaccttctgtaacgtgtg	8	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:42729868A>G	uc001uyl.1	+	5	576	c.555A>G	c.(553-555)CGA>CGG	p.R185R	DGKH_uc010tfh.1_Silent_p.R185R|DGKH_uc001uym.1_Silent_p.R185R|DGKH_uc010tfi.1_Missense_Mutation_p.D18G|DGKH_uc010tfj.1_Silent_p.R40R|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Silent_p.R40R|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	185	Phorbol-ester/DAG-type 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CCCACGCCCGACCCACCTTCT	0.527													G	42729868	A	G	42729868	2	3	27	1	0	0	0	0	0	0	0	1	4470	262	10	3		3	DGKH	13	42729868	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	272330	42729868	72440010	5941	29892											
DGKH	160851	broad.mit.edu	37	chr13	42795459	42795459	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctgctcaatttgggagagTacaaagatatcttcatccgt	8	8	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:42795459T>C	uc001uyl.1	+	29	3523	c.3502T>C	c.(3502-3504)TAC>CAC	p.Y1168H	DGKH_uc010tfh.1_Intron|DGKH_uc001uym.1_Intron|DGKH_uc010tfi.1_Intron|DGKH_uc010tfj.1_Missense_Mutation_p.Y1023H|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.Y1023H|DGKH_uc001uyp.2_Intron	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	1168	SAM.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTTGGGAGAGTACAAAGATAT	0.438													C	42795459	T	C	42795459	3	2	27	1	0	0	0	0	1	0	0	0	4470	1638	57	3	3616	3	DGKH	13	42795459	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	65591	42795459	72374419	5942	29893											
AKAP11	11215	broad.mit.edu	37	chr13	42872729	42872729	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctacatcaccaagacttaggAttgattttatctttagtctc	5	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:42872729A>T	uc001uys.1	+	7	587	c.412A>T	c.(412-414)ATT>TTT	p.I138F		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	138					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AAGACTTAGGATTGATTTTAT	0.363													T	42872729	A	T	42872729	3	4	27	1	0	0	0	0	1	0	0	0	447	333	12	5	430	5	AKAP11	13	42872729	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	77270	42872729	72297149	5943	29894											
AKAP11	11215	broad.mit.edu	37	chr13	42893303	42893303	+	Frame_Shift_Del	DEL	A	A	-													tcaatactatgaagtgatggAaaaagcttccagtgaggaga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:42893302_42893302GA>G	uc001uys.2	+	12	5819	c.5644_5644GA>G	c.(5644-5646)gaafs	p.E1882fs		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	1882					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGAAGTGATGGAAAAAGCTTC	0.403													-	42893303	A	-	42893303	7	5	27	1	0	1	0	1	0	0	0	0	447	246	9	0	5687	0	AKAP11	13	42893303	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	20574	42893303	72276575	5944	29895	102	2									
AKAP11	11215	broad.mit.edu	37	chr13	42893313	42893313	+	Silent	SNP	C	C	A													gaagtgatggaaaaagcttcCagtgaggagagatgcaagtc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:42893313C>A	uc001uys.1	+	13	5830	c.5655C>A	c.(5653-5655)TCC>TCA	p.S1885S		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	1885					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AAAAAGCTTCCAGTGAGGAGA	0.418													A	42893313	C	A	42893313	2	1	27	1	0	0	0	0	0	0	0	1	447	581	21	5		5	AKAP11	13	42893313	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	10	42893313	72276565	5945	29896	102	2									
ENOX1	55068	broad.mit.edu	37	chr13	43918714	43918714	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggcatttttaaaattctcCttggcttcctccatctcttg	5	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:43918714C>A	uc001uza.3	-	9	1296	c.996G>T	c.(994-996)AAG>AAT	p.K332N	ENOX1_uc001uzb.3_Missense_Mutation_p.K332N|ENOX1_uc001uzc.3_Missense_Mutation_p.K332N|ENOX1_uc001uyz.3_Translation_Start_Site|ENOX1_uc010tfm.1_Missense_Mutation_p.K145N	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	332	Potential.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TAAAATTCTCCTTGGCTTCCT	0.423													A	43918714	C	A	43918714	3	1	27	1	0	0	0	0	1	0	0	0	5126	680	24	5	971	5	ENOX1	13	43918714	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1025401	43918714	71251164	5946	29897											
C13orf31	144811	broad.mit.edu	37	chr13	44458051	44458051	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagatccagtcaaaaaaGcatgtggggttgctcacgct	11	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:44458051G>T	uc010acg.2	+	4	1371	c.886G>T	c.(886-888)GCA>TCA	p.A296S	C13orf31_uc001uzf.3_Missense_Mutation_p.A296S	NM_001128303	NP_001121775	Q8IV20	CM031_HUMAN	hypothetical protein LOC144811	296											0		Lung NSC(96;0.000163)|all_hematologic(4;0.0127)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Breast(139;0.0364)|Lung SC(185;0.0367)|Acute lymphoblastic leukemia(4;0.138)		GBM - Glioblastoma multiforme(144;0.000573)|BRCA - Breast invasive adenocarcinoma(63;0.121)		AGTCAAAAAAGCATGTGGGGT	0.348													T	44458051	G	T	44458051	3	4	27	1	0	0	0	0	1	0	0	0	1726	971	34	5	896	5	C13orf31	13	44458051	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	539337	44458051	70711827	5947	29898											
TSC22D1	8848	broad.mit.edu	37	chr13	45008970	45008970	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgatttgctctttgaggAcctccacttcttctctgacc	6	13	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:45008970A>G	uc001uzn.3	-	3	3505	c.3014T>C	c.(3013-3015)GTC>GCC	p.V1005A	TSC22D1_uc001uzo.1_Intron|TSC22D1_uc001uzm.3_Missense_Mutation_p.V76A	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	1005					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CTCTTTGAGGACCTCCACTTC	0.433													G	45008970	A	G	45008970	3	3	27	1	0	0	0	0	1	0	0	0	16604	275	10	3	211	3	TSC22D1	13	45008970	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	550919	45008970	70160908	5948	29899											
NUFIP1	26747	broad.mit.edu	37	chr13	45553376	45553376	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctggagtgtctaacttgAtcttcttcatgccaggagca	9	11	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:45553376A>G	uc001uzp.2	-	5	725	c.683T>C	c.(682-684)ATC>ACC	p.I228T		NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein	228					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding				0		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		GTCTAACTTGATCTTCTTCAT	0.433													G	45553376	A	G	45553376	3	3	27	1	0	0	0	0	1	0	0	0	10748	333	12	3	828	3	NUFIP1	13	45553376	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	544406	45553376	69616502	5949	29900											
KCTD4	386618	broad.mit.edu	37	chr13	45768438	45768438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcgtaggaagtttaggaCatgcctgaagaggagaccat	12	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:45768438C>T	uc001uzx.3	-	2	669	c.265G>A	c.(265-267)GTC>ATC	p.V89I	GTF2F2_uc001uzv.2_Intron|GTF2F2_uc001uzw.2_Intron	NM_198404	NP_940686	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerisation domain	89	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		AAGTTTAGGACATGCCTGAAG	0.423													T	45768438	C	T	45768438	3	4	27	1	0	0	0	0	1	0	0	0	8111	478	17	4	518	4	KCTD4	13	45768438	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	215062	45768438	69401440	5950	29901											
GTF2F2	2963	broad.mit.edu	37	chr13	45841416	45841416	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acggaaagcgagctcgagctGataaacaacatgttttagac	10	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:45841416G>A	uc001uzw.2	+	7	695	c.535G>A	c.(535-537)GAT>AAT	p.D179N	GTF2F2_uc001uzv.2_Missense_Mutation_p.D179N	NM_004128	NP_004119	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2,	179					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding				0		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		AGCTCGAGCTGATAAACAACA	0.368													A	45841416	G	A	45841416	3	1	27	1	0	0	0	0	1	0	0	0	6859	1290	45	4	561	4	GTF2F2	13	45841416	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	72978	45841416	69328462	5951	29902											
COG3	83548	broad.mit.edu	37	chr13	46093104	46093104	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttctttttaagggtactcctGagataagagaacattatctt	7	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:46093104G>A	uc001vak.2	+	19	2130	c.2029G>A	c.(2029-2031)GAG>AAG	p.E677K	COG3_uc010tfv.1_Missense_Mutation_p.E514K|COG3_uc010aci.2_Missense_Mutation_p.E453K	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	component of golgi transport complex 3	677					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|skin(1)	2		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		GGGTACTCCTGAGATAAGAGA	0.398													A	46093104	G	A	46093104	3	1	27	1	0	0	0	0	1	0	0	0	3659	1291	45	4	2103	4	COG3	13	46093104	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	251688	46093104	69076774	5952	29903											
SPERT	220082	broad.mit.edu	37	chr13	46287717	46287717	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggccctgcgcgaggagaAccggatgctcagcaaggaga	15	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:46287717A>G	uc001van.1	+	3	637	c.557A>G	c.(556-558)AAC>AGC	p.N186S	SPERT_uc001vao.2_Missense_Mutation_p.N150S	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	186	Potential.					cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CGCGAGGAGAACCGGATGCTC	0.622													G	46287717	A	G	46287717	3	3	27	1	0	0	0	0	1	0	0	0	15038	43	2	3	567	3	SPERT	13	46287717	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	194613	46287717	68882161	5953	29904											
SPERT	220082	broad.mit.edu	37	chr13	46287807	46287807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaggagagccgggccccctCgccactgctgcacaaagaca	12	15	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:46287807C>T	uc001van.1	+	3	727	c.647C>T	c.(646-648)TCG>TTG	p.S216L	SPERT_uc001vao.2_Missense_Mutation_p.S180L	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	216						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CGGGCCCCCTCGCCACTGCTG	0.652													T	46287807	C	T	46287807	3	4	27	1	0	0	0	0	1	0	0	0	15038	893	31	1	657	1	SPERT	13	46287807	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	90	46287807	68882071	5954	29905											
ZC3H13	23091	broad.mit.edu	37	chr13	46543661	46543662	+	Frame_Shift_Ins	INS	-	-	T													cacctttggattttttacgtINStttttttcaatgcttttctt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:46543660_46543661G>GT	uc010tfw.1	-	12	3024_3025	c.3018_3019C>AC	c.(3016-3021)aaacgtfs	p.K1006fs	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Frame_Shift_Ins_p.K1006fs|ZC3H13_uc001vat.1_Frame_Shift_Ins_p.K1006fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	1006	Lys-rich.						nucleic acid binding|zinc ion binding	p.R1007fs*2(2)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GATTTTTTACGTTTTTTTTCAA	0.371													T	46543662	-	T	46543661	7	5	27	1	0	1	1	0	0	0	0	0	17562	1722	60	0	1692	0	ZC3H13	13	46543661	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	255854	46543661	68626217	5955	29906											
ZC3H13	23091	broad.mit.edu	37	chr13	46549903	46549903	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actctgtctactcttcgttcCtctcttctttcatcacgctc	3	16	7	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:46549903C>A	uc010tfw.1	-	11	1989	c.1983G>T	c.(1981-1983)GAG>GAT	p.E661D	ZC3H13_uc001vas.1_Missense_Mutation_p.E661D|ZC3H13_uc001vat.1_Missense_Mutation_p.E661D	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	661	Arg/Glu-rich.|Potential.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTCTTCGTTCCTCTCTTCTTT	0.313													A	46549903	C	A	46549903	3	1	27	1	0	0	0	0	1	0	0	0	17562	680	24	5	2735	5	ZC3H13	13	46549903	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6242	46549903	68619975	5956	29907											
ZC3H13	23091	broad.mit.edu	37	chr13	46559477	46559477	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccctacttcggcccattcGgtcatttctaatttcacttc	4	16	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:46559477G>A	uc010tfw.1	-	9	1681	c.1675C>T	c.(1675-1677)CGA>TGA	p.R559*	ZC3H13_uc001vas.1_Nonsense_Mutation_p.R559*|ZC3H13_uc001vat.1_Nonsense_Mutation_p.R559*	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	559	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CGGCCCATTCGGTCATTTCTA	0.403													A	46559477	G	A	46559477	4	1	27	1	0	0	0	0	0	1	0	0	17562	1124	39	1	3051	1	ZC3H13	13	46559477	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	9574	46559477	68610401	5957	29908											
CPB2	1361	broad.mit.edu	37	chr13	46638817	46638817	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcaaagttcctattcagGtctgttccgatgcaatgatt	9	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:46638817G>A	uc001vaw.2	-	8	829	c.762C>T	c.(760-762)GAC>GAT	p.D254D	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Silent_p.D217D	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a	254					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TCCTATTCAGGTCTGTTCCGA	0.428													A	46638817	G	A	46638817	2	1	27	1	0	0	0	0	0	0	0	1	3797	1252	44	4		4	CPB2	13	46638817	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	79340	46638817	68531061	5958	29909											
CPB2	1361	broad.mit.edu	37	chr13	46661956	46661956	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagctagaacttggccaCtggggaaaaaaataaaagag	12	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:46661956C>T	uc001vaw.2	-	2	142	c.75_splice	c.e2-1	p.S25_splice	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Splice_Site_p.S25_splice	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a						blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		AACTTGGCCACTGGGGAAAAA	0.333													T	46661956	C	T	46661956	5	4	27	1	0	0	0	0	0	0	1	0	3797	579	20	4	1237	4	CPB2	13	46661956	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	23139	46661956	68507922	5959	29910											
C13orf18	80183	broad.mit.edu	37	chr13	46942256	46942256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtcatttcagagtcaggCtgatcactcccaagtaaccc	7	12	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:46942256C>T	uc010acl.2	-	5	1352	c.747G>A	c.(745-747)CAG>CAA	p.Q249Q	C13orf18_uc001vbf.3_Silent_p.Q182Q|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Silent_p.Q92Q|C13orf18_uc010acm.2_Silent_p.Q114Q|C13orf18_uc010acn.2_Silent_p.Q34Q|C13orf18_uc001vbe.3_Silent_p.Q249Q|C13orf18_uc001vbh.3_Silent_p.Q249Q|C13orf18_uc001vbi.3_Silent_p.Q92Q|C13orf18_uc010aco.1_Silent_p.Q249Q	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	249											0		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)		CAGAGTCAGGCTGATCACTCC	0.413													T	46942256	C	T	46942256	2	4	27	1	0	0	0	0	0	0	0	1	1720	796	28	2		2	C13orf18	13	46942256	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	280300	46942256	68227622	5960	29911											
ESD	2098	broad.mit.edu	37	chr13	47351597	47351597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctaatacttgcctcttgCaatcgaaaaacaacggggat	7	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:47351597C>T	uc001vbn.2	-	9	945	c.762G>A	c.(760-762)TTG>TTA	p.L254L	ESD_uc001vbo.2_Silent_p.L254L|ESD_uc001vbp.1_Silent_p.L112L	NM_001984	NP_001975	P10768	ESTD_HUMAN	esterase D/formylglutathione hydrolase	254						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			ovary(1)	1		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	TTGCCTCTTGCAATCGAAAAA	0.323													T	47351597	C	T	47351597	2	4	27	1	0	0	0	0	0	0	0	1	5250	709	25	2		2	ESD	13	47351597	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	409341	47351597	67818281	5961	29912											
HTR2A	3356	broad.mit.edu	37	chr13	47409003	47409003	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttttcattcactccgTcgctattgtctttagaagcc	5	13	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:47409003T>G	uc001vbq.2	-	3	1519	c.1385A>C	c.(1384-1386)GAC>GCC	p.D462A	HTR2A_uc001vbr.2_Missense_Mutation_p.D362A|HTR2A_uc010acr.2_Missense_Mutation_p.D462A	NM_000621	NP_000612	P28223	5HT2A_HUMAN	5-hydroxytryptamine receptor 2A isoform 1	462	Cytoplasmic (By similarity).				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ATTCACTCCGTCGCTATTGTC	0.423													G	47409003	T	G	47409003	3	3	27	1	0	0	0	0	1	0	0	0	7441	1667	58	5	34	5	HTR2A	13	47409003	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	57406	47409003	67760875	5962	29913											
RB1	5925	broad.mit.edu	37	chr13	48921969	48921969	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttttcaggacatgtgAacttatatatttgacacaac	5	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:48921969A>G	uc001vcb.2	+	5	675	c.509A>G	c.(508-510)GAA>GGA	p.E170G	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	170					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(5)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGACATGTGAACTTATATAT	0.259		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			G	48921969	A	G	48921969	3	3	27	1	0	0	0	0	1	0	0	0	13098	246	9	3	527	3	RB1	13	48921969	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1512966	48921969	66247909	5963	29914											
LPAR6	10161	broad.mit.edu	37	chr13	48986487	48986487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaagcacaaacaccatgcTgaacatgcacccatacaaag	5	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:48986487T>C	uc010acu.2	-	1	1167	c.73A>G	c.(73-75)AGC>GGC	p.S25G	RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Missense_Mutation_p.S25G|LPAR6_uc001vcf.2_Missense_Mutation_p.S25G	NM_001162498	NP_001155970	P43657	LPAR6_HUMAN	G-protein coupled purinergic receptor P2Y5	25	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.?(4)		ovary(4)	4						AACACCATGCTGAACATGCAC	0.393													C	48986487	T	C	48986487	3	2	27	1	0	0	0	0	1	0	0	0	8909	1580	55	3	965	3	LPAR6	13	48986487	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	64518	48986487	66183391	5964	29915											
FNDC3A	22862	broad.mit.edu	37	chr13	49781431	49781431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagcacaaggacccgacGggcactgagtgacgagcagt	15	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:49781431G>A	uc001vcm.2	+	26	3802	c.3497G>A	c.(3496-3498)CGG>CAG	p.R1166Q	FNDC3A_uc001vcn.2_Missense_Mutation_p.R1166Q|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Missense_Mutation_p.R1110Q	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1166						Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AGGACCCGACGGGCACTGAGT	0.498													A	49781431	G	A	49781431	3	1	27	1	0	0	0	0	1	0	0	0	5969	1116	39	1	3606	1	FNDC3A	13	49781431	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	794944	49781431	65388447	5965	29916											
CDADC1	81602	broad.mit.edu	37	chr13	49833617	49833617	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaactgtgatctttattttTccagaaaaccatgttctgct	5	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:49833617T>C	uc001vcu.2	+	4	464	c.388T>C	c.(388-390)TCC>CCC	p.S130P	CDADC1_uc001vcs.1_RNA|CDADC1_uc001vct.1_Intron|CDADC1_uc010tgk.1_Intron|CDADC1_uc001vcv.2_Intron	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	130							hydrolase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		TCTTTATTTTTCCAGAAAACC	0.353													C	49833617	T	C	49833617	3	2	27	1	0	0	0	0	1	0	0	0	3053	1783	62	3	402	3	CDADC1	13	49833617	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	52186	49833617	65336261	5966	29917											
CAB39L	81617	broad.mit.edu	37	chr13	49885125	49885125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtgaggactggccacaAacacctgaaacaaaaagaaa	8	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:49885125A>G	uc001vcw.2	-	9	1337	c.839T>C	c.(838-840)TTT>TCT	p.F280S	CAB39L_uc001vcx.2_Missense_Mutation_p.F280S|CAB39L_uc010adf.2_Missense_Mutation_p.F277S	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	280					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding				0		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		ACTGGCCACAAACACCTGAAA	0.488													G	49885125	A	G	49885125	3	3	27	1	0	0	0	0	1	0	0	0	2526	14	1	3	178	3	CAB39L	13	49885125	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	51508	49885125	65284753	5967	29918											
SETDB2	83852	broad.mit.edu	37	chr13	50050783	50050783	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagctgccaatcaaatgTcacttccaaagacgacatgc	7	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:50050783T>A	uc001vcz.2	+	7	1419	c.513T>A	c.(511-513)TGT>TGA	p.C171*	SETDB2_uc010adg.2_Nonsense_Mutation_p.C147*|SETDB2_uc001vcy.3_Nonsense_Mutation_p.C159*|SETDB2_uc010adh.2_Nonsense_Mutation_p.C159*|SETDB2_uc001vda.2_Nonsense_Mutation_p.C159*	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2 isoform a	171	MBD.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		CAATCAAATGTCACTTCCAAA	0.448													A	50050783	T	A	50050783	4	1	27	1	0	0	0	0	0	1	0	0	14139	1673	58	5	535	5	SETDB2	13	50050783	Nonsense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	165658	50050783	65119095	5968	29919											
SETDB2	83852	broad.mit.edu	37	chr13	50055082	50055082	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgcatattttgttgacaGcatttatgaatgcagccttt	7	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:50055082G>A	uc001vcz.2	+	9	1929	c.1023_splice	c.e9-1	p.G341_splice	SETDB2_uc010adg.2_Splice_Site_p.G317_splice|SETDB2_uc001vcy.3_Splice_Site_p.G329_splice|SETDB2_uc010adh.2_Splice_Site_p.G329_splice|SETDB2_uc001vda.2_Splice_Site_p.G329_splice	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2 isoform a						cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		TTTGTTGACAGCATTTATGAA	0.363													A	50055082	G	A	50055082	5	1	27	1	0	0	0	0	0	0	1	0	14139	985	34	2	1052	2	SETDB2	13	50055082	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4299	50055082	65114796	5969	29920											
KPNA3	3839	broad.mit.edu	37	chr13	50279883	50279883	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgacagtaaattacagaAcggtggtattacattctgct	8	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:50279883A>G	uc001vdj.2	-	15	1661	c.1246T>C	c.(1246-1248)TTC>CTC	p.F416L		NM_002267	NP_002258	O00505	IMA3_HUMAN	karyopherin alpha 3	416	ARM 9.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity				0		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		AAATTACAGAACGGTGGTATT	0.363													G	50279883	A	G	50279883	3	3	27	1	0	0	0	0	1	0	0	0	8431	43	2	3	331	3	KPNA3	13	50279883	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	224801	50279883	64889995	5970	29921											
ATP7B	540	broad.mit.edu	37	chr13	52515217	52515217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcagaagcagaagatacCgtcaatagccaccaggatgg	12	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:52515217C>T	uc001vfw.2	-	16	3713	c.3556G>A	c.(3556-3558)GGT>AGT	p.G1186S	ATP7B_uc010adv.2_Missense_Mutation_p.G756S|ATP7B_uc001vfx.2_Missense_Mutation_p.G979S|ATP7B_uc001vfy.2_Missense_Mutation_p.G1075S|ATP7B_uc010tgt.1_Missense_Mutation_p.G1121S|ATP7B_uc010tgu.1_Missense_Mutation_p.G1138S|ATP7B_uc010tgv.1_Missense_Mutation_p.G1108S|ATP7B_uc001vfv.2_Missense_Mutation_p.G458S|ATP7B_uc010tgs.1_Missense_Mutation_p.G397S	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1186	Cytoplasmic (Potential).		G -> S (in WD; possibly not disease- causing).|G -> C (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CAGAAGATACCGTCAATAGCC	0.463									Wilson_disease				T	52515217	C	T	52515217	3	4	27	1	0	0	0	0	1	0	0	0	1191	666	23	1	865	1	ATP7B	13	52515217	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2235334	52515217	62654661	5971	29922											
ATP7B	540	broad.mit.edu	37	chr13	52523920	52523920	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaaaccggtcagccagctGctgaatgggtgcctatgaaa	11	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:52523920G>A	uc001vfw.2	-	12	2900	c.2743C>T	c.(2743-2745)CAG>TAG	p.Q915*	ATP7B_uc010adv.2_Nonsense_Mutation_p.Q485*|ATP7B_uc001vfx.2_Intron|ATP7B_uc001vfy.2_Nonsense_Mutation_p.Q804*|ATP7B_uc010tgt.1_Nonsense_Mutation_p.Q915*|ATP7B_uc010tgu.1_Nonsense_Mutation_p.Q867*|ATP7B_uc010tgv.1_Nonsense_Mutation_p.Q837*|ATP7B_uc001vfv.2_Nonsense_Mutation_p.Q187*|ATP7B_uc010tgs.1_Nonsense_Mutation_p.Q187*	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	915	Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TCAGCCAGCTGCTGAATGGGT	0.383									Wilson_disease				A	52523920	G	A	52523920	4	1	27	1	0	0	0	0	0	1	0	0	1191	1328	46	2	1694	2	ATP7B	13	52523920	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	8703	52523920	62645958	5972	29923											
ATP7B	540	broad.mit.edu	37	chr13	52539088	52539088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgctggtggcaagggcaaCggaggcataagtgatgccat	15	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:52539088C>T	uc001vfw.2	-	5	1946	c.1789G>A	c.(1789-1791)GTT>ATT	p.V597I	ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.V597I|ATP7B_uc001vfy.2_Missense_Mutation_p.V486I|ATP7B_uc010tgt.1_Missense_Mutation_p.V597I|ATP7B_uc010tgu.1_Missense_Mutation_p.V597I|ATP7B_uc010tgv.1_Missense_Mutation_p.V597I|ATP7B_uc010tgw.1_Intron	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	597	HMA 6.|Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GCAAGGGCAACGGAGGCATAA	0.453									Wilson_disease				T	52539088	C	T	52539088	3	4	27	1	0	0	0	0	1	0	0	0	1191	536	19	1	2676	1	ATP7B	13	52539088	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	15168	52539088	62630790	5973	29924											
NEK5	341676	broad.mit.edu	37	chr13	52663438	52663438	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaattttctctgaaggTactcagcaggccttagaaaa	7	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:52663438T>C	uc001vge.2	-	14	1360	c.1220A>G	c.(1219-1221)TAC>TGC	p.Y407C		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	407							ATP binding|metal ion binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)	1		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TCTCTGAAGGTACTCAGCAGG	0.328													C	52663438	T	C	52663438	3	2	27	1	0	0	0	0	1	0	0	0	10327	1638	57	3	942	3	NEK5	13	52663438	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	124350	52663438	62506440	5974	29925											
THSD1	55901	broad.mit.edu	37	chr13	52952229	52952229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccttgcctgtgacttgcGgatcagagtctggctggggc	16	10	2	2	rs144799411	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:52952229G>A	uc001vgo.2	-	5	2421	c.1876C>T	c.(1876-1878)CGC>TGC	p.R626C	THSD1_uc001vgp.2_Missense_Mutation_p.R573C|THSD1_uc010tgz.1_Missense_Mutation_p.R247C|THSD1_uc010aea.2_Missense_Mutation_p.R87C	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	626	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TGTGACTTGCGGATCAGAGTC	0.622													A	52952229	G	A	52952229	3	1	27	1	0	0	0	0	1	0	0	0	15874	1116	39	1	686	1	THSD1	13	52952229	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	288791	52952229	62217649	5975	29926											
THSD1	55901	broad.mit.edu	37	chr13	52952905	52952905	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctggggctgaagaggagaTgggctggatggctggaaagc	19	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:52952905T>C	uc001vgo.2	-	5	1745	c.1200A>G	c.(1198-1200)CCA>CCG	p.P400P	THSD1_uc001vgp.2_Silent_p.P347P|THSD1_uc010tgz.1_Silent_p.P21P|THSD1_uc010aea.2_5'UTR	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	400	Extracellular (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GAAGAGGAGATGGGCTGGATG	0.358													C	52952905	T	C	52952905	2	2	27	1	0	0	0	0	0	0	0	1	15874	1451	51	3		3	THSD1	13	52952905	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	676	52952905	62216973	5976	29927											
PCDH8	5100	broad.mit.edu	37	chr13	53420245	53420245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcacctccttcttgcggCggttgcaggtggtggcgatg	16	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:53420245C>T	uc001vhi.2	-	1	2530	c.2327G>A	c.(2326-2328)CGC>CAC	p.R776H	PCDH8_uc001vhj.2_Missense_Mutation_p.R776H	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	776	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CTTCTTGCGGCGGTTGCAGGT	0.617													T	53420245	C	T	53420245	3	4	27	1	0	0	0	0	1	0	0	0	11517	768	27	1	897	1	PCDH8	13	53420245	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	467340	53420245	61749633	5977	29928											
PCDH17	27253	broad.mit.edu	37	chr13	58208481	58208481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcaggtgccgcgcaacGctggcctgggctatctggtg	16	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:58208481G>A	uc001vhq.1	+	1	2693	c.1801G>A	c.(1801-1803)GCT>ACT	p.A601T	PCDH17_uc010aec.1_Missense_Mutation_p.A601T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	601	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCCGCGCAACGCTGGCCTGGG	0.647													A	58208481	G	A	58208481	3	1	27	1	0	0	0	0	1	0	0	0	11512	1087	38	1	1803	1	PCDH17	13	58208481	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4788236	58208481	56961397	5978	29929											
PCDH17	27253	broad.mit.edu	37	chr13	58208684	58208684	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgaaggtgaccgaccaCggcaagcctaccctgtccgc	13	14	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:58208684C>T	uc001vhq.1	+	1	2896	c.2004C>T	c.(2002-2004)CAC>CAT	p.H668H	PCDH17_uc010aec.1_Silent_p.H668H	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	668	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGACCGACCACGGCAAGCCTA	0.647													T	58208684	C	T	58208684	2	4	27	1	0	0	0	0	0	0	0	1	11512	535	19	1		1	PCDH17	13	58208684	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	203	58208684	56961194	5979	29930											
PCDH17	27253	broad.mit.edu	37	chr13	58208869	58208869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcaccatcgccgtcaagtGcaagcgcgagaacaaggaga	12	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:58208869G>A	uc001vhq.1	+	1	3081	c.2189G>A	c.(2188-2190)TGC>TAC	p.C730Y	PCDH17_uc010aec.1_Missense_Mutation_p.C730Y	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	730	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCCGTCAAGTGCAAGCGCGAG	0.592													A	58208869	G	A	58208869	3	1	27	1	0	0	0	0	1	0	0	0	11512	1319	46	2	2191	2	PCDH17	13	58208869	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	185	58208869	56961009	5980	29931											
DIAPH3	81624	broad.mit.edu	37	chr13	60240957	60240957	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtagtgtgaacgtgacccttCtgtcaactgcactttctgat	9	10	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:60240957C>A	uc001vht.2	-	28	3562	c.3343G>T	c.(3343-3345)GAA>TAA	p.E1115*	DIAPH3_uc001vhs.2_RNA	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	1115					actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CGTGACCCTTCTGTCAACTGC	0.383													A	60240957	C	A	60240957	4	1	27	1	0	0	0	0	0	1	0	0	4520	922	32	5	242	5	DIAPH3	13	60240957	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2032088	60240957	54928921	5981	29932											
DIAPH3	81624	broad.mit.edu	37	chr13	60616864	60616864	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacactcggagagactccaGgcatgtgacaagtctctcat	10	11	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:60616864G>T	uc001vht.2	-	5	805	c.586C>A	c.(586-588)CTG>ATG	p.L196M	DIAPH3_uc001vhw.1_Missense_Mutation_p.L185M|DIAPH3_uc010aed.1_Missense_Mutation_p.L150M|DIAPH3_uc010aee.1_Missense_Mutation_p.L126M|uc001vhx.2_RNA	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	196	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGAGACTCCAGGCATGTGACA	0.418													T	60616864	G	T	60616864	3	4	27	1	0	0	0	0	1	0	0	0	4520	991	35	5	3111	5	DIAPH3	13	60616864	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	375907	60616864	54553014	5982	29933											
PCDH20	64881	broad.mit.edu	37	chr13	61986186	61986186	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatctatgacaaaaatatcActctggttcaccacagagag	7	9	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:61986186A>G	uc001vid.3	-	2	2410	c.2046T>C	c.(2044-2046)AGT>AGC	p.S682S	PCDH20_uc010thj.1_Silent_p.S682S	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	655	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CAAAAATATCACTCTGGTTCA	0.458													G	61986186	A	G	61986186	2	3	27	1	0	0	0	0	0	0	0	1	11515	156	6	3		3	PCDH20	13	61986186	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1369322	61986186	53183692	5983	29934											
DACH1	1602	broad.mit.edu	37	chr13	72049923	72049923	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtttcgtctcaaactcaagTgcttcctgcaattttctctt	5	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:72049923T>C	uc010thn.1	-	10	2352	c.1929A>G	c.(1927-1929)GCA>GCG	p.A643A	DACH1_uc010tho.1_Silent_p.A495A|DACH1_uc010thp.1_Silent_p.A441A	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	695	DACHbox-C.|Potential.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CAAACTCAAGTGCTTCCTGCA	0.373													C	72049923	T	C	72049923	2	2	27	1	0	0	0	0	0	0	0	1	4220	1683	59	3		3	DACH1	13	72049923	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	10063737	72049923	43119955	5984	29935											
DACH1	1602	broad.mit.edu	37	chr13	72146996	72146996	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataactgatgtctcaactctGgatgggggactctgaacttg	11	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:72146996G>T	uc010thn.1	-	5	1698	c.1275C>A	c.(1273-1275)TCC>TCA	p.S425S	DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	477					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCTCAACTCTGGATGGGGGAC	0.423													T	72146996	G	T	72146996	2	4	27	1	0	0	0	0	0	0	0	1	4220	1335	47	5		5	DACH1	13	72146996	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	97073	72146996	43022882	5985	29936											
DIS3	22894	broad.mit.edu	37	chr13	73346867	73346867	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggcatctttggcagaaaActaagaacagcctgtgaaaa	10	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:73346867A>G	uc001vix.3	-	9	1724	c.1350T>C	c.(1348-1350)AGT>AGC	p.S450S	DIS3_uc001viy.3_Silent_p.S420S|DIS3_uc001viz.2_RNA	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	450					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)	1		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TTGGCAGAAAACTAAGAACAG	0.353										Multiple Myeloma(4;0.011)			G	73346867	A	G	73346867	2	3	27	1	0	0	0	0	0	0	0	1	4535	40	2	3		3	DIS3	13	73346867	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1199871	73346867	41823011	5986	29937											
DIS3	22894	broad.mit.edu	37	chr13	73349461	73349461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggagaagctccacagccAcaatatcttcgtgaacagct	10	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:73349461A>G	uc001vix.3	-	6	1249	c.875T>C	c.(874-876)GTG>GCG	p.V292A	DIS3_uc001viy.3_Missense_Mutation_p.V262A|DIS3_uc001viz.2_RNA	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	292					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)	1		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CTCCACAGCCACAATATCTTC	0.403										Multiple Myeloma(4;0.011)			G	73349461	A	G	73349461	3	3	27	1	0	0	0	0	1	0	0	0	4535	159	6	3	2065	3	DIS3	13	73349461	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2594	73349461	41820417	5987	29938											
DIS3	22894	broad.mit.edu	37	chr13	73350153	73350153	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgttccttgaaggtatgtAccagattttatgccttgctg	9	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:73350153A>G	uc001vix.3	-	5	1106	c.732T>C	c.(730-732)GGT>GGC	p.G244G	DIS3_uc001viy.3_Silent_p.G214G|DIS3_uc001viz.2_RNA	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	244					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)	1		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		GAAGGTATGTACCAGATTTTA	0.348										Multiple Myeloma(4;0.011)			G	73350153	A	G	73350153	2	3	27	1	0	0	0	0	0	0	0	1	4535	378	14	3		3	DIS3	13	73350153	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	692	73350153	41819725	5988	29939											
TBC1D4	9882	broad.mit.edu	37	chr13	75860997	75860997	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctcagcaacaggtcacaAttgactagagcatccgcggg	10	12	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:75860997A>G	uc001vjl.1	-	21	4175	c.3828T>C	c.(3826-3828)AAT>AAC	p.N1276N	TBC1D4_uc010tht.1_Silent_p.N486N|TBC1D4_uc010thu.1_Silent_p.N433N|TBC1D4_uc010aer.2_Silent_p.N1268N|TBC1D4_uc010aes.2_Silent_p.N1213N	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1276						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ACAGGTCACAATTGACTAGAG	0.463													G	75860997	A	G	75860997	2	3	27	1	0	0	0	0	0	0	0	1	15619	98	4	3		3	TBC1D4	13	75860997	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2510844	75860997	39308881	5989	29940											
TBC1D4	9882	broad.mit.edu	37	chr13	75861153	75861153	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaaggcctggattttagtAtgagctacctgtttgggggg	14	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:75861153A>G	uc001vjl.1	-	21	4019	c.3672T>C	c.(3670-3672)CAT>CAC	p.H1224H	TBC1D4_uc010tht.1_Silent_p.H434H|TBC1D4_uc010thu.1_Silent_p.H381H|TBC1D4_uc010aer.2_Silent_p.H1216H|TBC1D4_uc010aes.2_Silent_p.H1161H	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1224						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GGATTTTAGTATGAGCTACCT	0.373													G	75861153	A	G	75861153	2	3	27	1	0	0	0	0	0	0	0	1	15619	446	16	3		3	TBC1D4	13	75861153	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	156	75861153	39308725	5990	29941											
LMO7	4008	broad.mit.edu	37	chr13	76408473	76408473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaagccatggctaaggCtcaagaaactggacacctag	13	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:76408473C>T	uc001vjv.2	+	14	3237	c.2477C>T	c.(2476-2478)GCT>GTT	p.A826V	LMO7_uc010thv.1_Missense_Mutation_p.A777V|LMO7_uc001vjt.1_Missense_Mutation_p.A725V|LMO7_uc010thw.1_Missense_Mutation_p.A676V|LMO7_uc001vjw.1_Missense_Mutation_p.A732V	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	1111	PDZ.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATGGCTAAGGCTCAAGAAACT	0.438													T	76408473	C	T	76408473	3	4	27	1	0	0	0	0	1	0	0	0	8855	797	28	2	3402	2	LMO7	13	76408473	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	547320	76408473	38761405	5991	29942											
KCTD12	115207	broad.mit.edu	37	chr13	77459345	77459345	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tactcggtgtagctggtccaGatcttgtcctcgctctggtc	11	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:77459345G>C	uc010aeu.1	-	1	1196	c.939C>G	c.(937-939)ATC>ATG	p.I313M	KCTD12_uc001vka.1_Missense_Mutation_p.I313M	NM_138444	NP_612453	Q96CX2	KCD12_HUMAN	potassium channel tetramerisation domain	313						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(1)	1		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		AGCTGGTCCAGATCTTGTCCT	0.632											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	77459345	G	C	77459345	3	2	27	1	0	0	0	0	1	0	0	0	8099	932	33	5	42	5	KCTD12	13	77459345	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1050872	77459345	37710533	5992	29943											
MYCBP2	23077	broad.mit.edu	37	chr13	77671955	77671955	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtttttgttgatgctacccaTcttagatatatctggtccat	7	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:77671955T>A	uc001vkf.2	-	57	9311	c.9220A>T	c.(9220-9222)ATG>TTG	p.M3074L	MYCBP2_uc010aev.2_Missense_Mutation_p.M2478L|MYCBP2_uc001vkg.1_Missense_Mutation_p.M597L|MYCBP2_uc010aew.2_Missense_Mutation_p.M460L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3074					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATGCTACCCATCTTAGATATA	0.358													A	77671955	T	A	77671955	3	1	27	1	0	0	0	0	1	0	0	0	10018	1435	50	5	4814	5	MYCBP2	13	77671955	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	212610	77671955	37497923	5993	29944											
MYCBP2	23077	broad.mit.edu	37	chr13	77847693	77847693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtttctccccaagaagCcaccagactaaagaggcaag	8	13	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:77847693C>T	uc001vkf.2	-	6	836	c.745G>A	c.(745-747)GCT>ACT	p.A249T	MYCBP2_uc010aev.2_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCCCAAGAAGCCACCAGACTA	0.463													T	77847693	C	T	77847693	3	4	27	1	0	0	0	0	1	0	0	0	10018	739	26	2	13493	2	MYCBP2	13	77847693	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	175738	77847693	37322185	5994	29945											
SCEL	8796	broad.mit.edu	37	chr13	78178549	78178549	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaataaaaatattacgAggtaagacatttaaagctcc	5	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:78178549A>T	uc001vki.2	+	19	1326	c.1156A>T	c.(1156-1158)AGG>TGG	p.R386W	SCEL_uc001vkj.2_Missense_Mutation_p.R366W|SCEL_uc010thx.1_Intron	NM_144777	NP_659001	O95171	SCEL_HUMAN	sciellin isoform 1	386	16 X approximate tandem repeats.|7.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			ovary(4)|breast(1)	5		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AAATATTACGAGGTAAGACAT	0.338													T	78178549	A	T	78178549	3	4	27	1	0	0	0	0	1	0	0	0	13888	318	11	5	1226	5	SCEL	13	78178549	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	330856	78178549	36991329	5995	29946											
EDNRB	1910	broad.mit.edu	37	chr13	78492418	78492418	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgtatttgaaagtctcCttgatctcgatgggtccttg	10	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:78492418C>A	uc001vko.2	-	1	549	c.291G>T	c.(289-291)AAG>AAT	p.K97N	uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.K97N|EDNRB_uc010aez.1_Missense_Mutation_p.K97N|EDNRB_uc001vkp.1_Missense_Mutation_p.K180N|EDNRB_uc010afa.1_Missense_Mutation_p.K97N	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	97	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	TGAAAGTCTCCTTGATCTCGA	0.547													A	78492418	C	A	78492418	3	1	27	1	0	0	0	0	1	0	0	0	4920	680	24	5	1186	5	EDNRB	13	78492418	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	313869	78492418	36677460	5996	29947											
RNF219	79596	broad.mit.edu	37	chr13	79219069	79219069	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acactggctattattcttcaAccacaaatcaatacaaatcg	3	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:79219069A>G	uc001vkw.1	-	2	195	c.136T>C	c.(136-138)TTG>CTG	p.L46L	RNF219_uc010afb.1_5'UTR|RNF219_uc010afc.2_Silent_p.L46L	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	ring finger protein 219	46	RING-type; degenerate.						zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TTATTCTTCAACCACAAATCA	0.383													G	79219069	A	G	79219069	2	3	27	1	0	0	0	0	0	0	0	1	13482	40	2	3		3	RNF219	13	79219069	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	726651	79219069	35950809	5997	29948											
RNF219	79596	broad.mit.edu	37	chr13	79219087	79219087	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaccacaaatcaatacaaaTcgaacaaaatacatggttgt	4	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:79219087T>A	uc001vkw.1	-	2	177	c.118A>T	c.(118-120)ATT>TTT	p.I40F	RNF219_uc010afb.1_5'UTR|RNF219_uc010afc.2_Missense_Mutation_p.I40F	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	ring finger protein 219	40	RING-type; degenerate.						zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TCAATACAAATCGAACAAAAT	0.383													A	79219087	T	A	79219087	3	1	27	1	0	0	0	0	1	0	0	0	13482	1435	50	5	2082	5	RNF219	13	79219087	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	18	79219087	35950791	5998	29949											
RBM26	64062	broad.mit.edu	37	chr13	79939848	79939848	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgtagccatctgtgtcatAtgtatctggtaatacaaaaa	7	6	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:79939848A>G	uc001vkz.2	-	9	1311	c.1297T>C	c.(1297-1299)TAT>CAT	p.Y433H	RBM26_uc001vky.2_Missense_Mutation_p.Y428H|RBM26_uc001vla.2_Missense_Mutation_p.Y428H|RBM26_uc001vkx.2_Missense_Mutation_p.Y140H	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	428					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TCTGTGTCATATGTATCTGGT	0.328													G	79939848	A	G	79939848	3	3	27	1	0	0	0	0	1	0	0	0	13126	449	16	3	1712	3	RBM26	13	79939848	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	720761	79939848	35230030	5999	29950											
RBM26	64062	broad.mit.edu	37	chr13	79942959	79942959	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattcagaccaactttcggtAgtgttgtttccatgatgagt	9	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:79942959A>G	uc001vkz.2	-	6	815	c.801T>C	c.(799-801)ACT>ACC	p.T267T	RBM26_uc001vky.2_Silent_p.T267T|RBM26_uc001vla.2_Silent_p.T267T|RBM26_uc001vkx.2_5'UTR|RBM26_uc001vlb.1_RNA	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	267					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		AACTTTCGGTAGTGTTGTTTC	0.433													G	79942959	A	G	79942959	2	3	27	1	0	0	0	0	0	0	0	1	13126	407	15	3		3	RBM26	13	79942959	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3111	79942959	35226919	6000	29951											
SLITRK1	114798	broad.mit.edu	37	chr13	84455509	84455510	+	Frame_Shift_Ins	INS	-	-	T													ctgcagacttgtgaagccctINSttttttcacagtctacgtgt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:84455508_84455509C>CT	uc001vlk.3	-	0	1020_1021	c.134_135G>AG	c.(133-135)aagfs	p.K45fs		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	45	LRRNT.					integral to membrane		p.K45fs*64(2)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTGTGAAGCCCTTTTTTTCACA	0.465													T	84455510	-	T	84455509	7	5	27	1	0	1	1	0	0	0	0	0	14742	1609	56	0	1960	0	SLITRK1	13	84455509	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	4512550	84455509	30714369	6001	29952											
SLITRK5	26050	broad.mit.edu	37	chr13	88328005	88328005	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgttatccaggacattgAgaccggggctttccatgggc	12	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:88328005A>G	uc001vln.2	+	2	581	c.362A>G	c.(361-363)GAG>GGG	p.E121G	SLITRK5_uc010tic.1_Intron	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	121	LRR 2.|Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CAGGACATTGAGACCGGGGCT	0.448													G	88328005	A	G	88328005	3	3	27	1	0	0	0	0	1	0	0	0	14746	304	11	3	364	3	SLITRK5	13	88328005	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3872496	88328005	26841873	6002	29953											
SLITRK5	26050	broad.mit.edu	37	chr13	88328670	88328670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccaacaagcccagggtgCgccccacctctcggcagccc	9	20	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:88328670C>T	uc001vln.2	+	2	1246	c.1027C>T	c.(1027-1029)CGC>TGC	p.R343C	SLITRK5_uc010tic.1_Missense_Mutation_p.R102C	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	343	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCCCAGGGTGCGCCCCACCTC	0.597													T	88328670	C	T	88328670	3	4	27	1	0	0	0	0	1	0	0	0	14746	768	27	1	1029	1	SLITRK5	13	88328670	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	665	88328670	26841208	6003	29954											
SLITRK5	26050	broad.mit.edu	37	chr13	88328765	88328765	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccccggtgcctttggagtgTcccaccgcgtgctcttgcaa	11	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:88328765T>C	uc001vln.2	+	2	1341	c.1122T>C	c.(1120-1122)TGT>TGC	p.C374C	SLITRK5_uc010tic.1_Silent_p.C133C	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	374	Extracellular (Potential).|LRRNT.					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTTTGGAGTGTCCCACCGCGT	0.597													C	88328765	T	C	88328765	2	2	27	1	0	0	0	0	0	0	0	1	14746	1673	58	3		3	SLITRK5	13	88328765	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	95	88328765	26841113	6004	29955											
GPC6	10082	broad.mit.edu	37	chr13	93879729	93879729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgccttcttggatcggggCtgtgattcttcccctcttgg	11	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:93879729C>T	uc001vlt.2	+	1	652	c.20C>T	c.(19-21)GCT>GTT	p.A7V	GPC6_uc010tig.1_Missense_Mutation_p.A7V	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	7						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TGGATCGGGGCTGTGATTCTT	0.647											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	93879729	C	T	93879729	3	4	27	1	0	0	0	0	1	0	0	0	6602	797	28	2	22	2	GPC6	13	93879729	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5550964	93879729	21290149	6005	29956											
SOX21	11166	broad.mit.edu	37	chr13	95364135	95364135	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgcttggcctcgtcgatgaAcggccgcttctccgactctg	11	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:95364135A>G	uc001vma.2	-	1	255	c.169T>C	c.(169-171)TTC>CTC	p.F57L	uc001vmb.1_5'Flank	NM_007084	NP_009015	Q9Y651	SOX21_HUMAN	SRY-box 21	57	HMG box.				regulation of transcription from RNA polymerase II promoter|stem cell differentiation	nucleus	DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity				0	all_neural(89;0.0646)|Medulloblastoma(90;0.163)					TCGTCGATGAACGGCCGCTTC	0.617													G	95364135	A	G	95364135	3	3	27	1	0	0	0	0	1	0	0	0	14950	43	2	3	665	3	SOX21	13	95364135	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1484406	95364135	19805743	6006	29957											
DZIP1	22873	broad.mit.edu	37	chr13	96241464	96241464	+	Splice_Site	DEL	A	A	-													atgacatttttcttaattctAaaaaaacaacagaaaaatat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:96241463_96241463TA>T	uc001vmk.3	-	19	2826	c.1974_splice	c.e19-1	p.K658_splice	DZIP1_uc001vmj.3_Splice_Site_p.K134_splice|DZIP1_uc001vml.3_Splice_Site_p.K639_splice	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	658					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTCTTAATTCTAAAAAAACAA	0.279													-	96241464	A	-	96241464	8	5	27	1	0	1	0	1	0	0	1	0	4863	377	13	0		0	DZIP1	13	96241464	Splice_Site	DEL	A	TCGA-BR-6452-01A-12D-1800-08	877329	96241464	18928414	6007	29958											
HS6ST3	266722	broad.mit.edu	37	chr13	97484962	97484962	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctacaacctggctaacaatcGccaggtgcgcatgctggctg	11	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:97484962G>T	uc001vmw.2	+	2	950	c.926G>T	c.(925-927)CGC>CTC	p.R309L		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	309	Lumenal (Potential).					integral to membrane	sulfotransferase activity			ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GCTAACAATCGCCAGGTGCGC	0.547													T	97484962	G	T	97484962	3	4	27	1	0	0	0	0	1	0	0	0	7372	1087	38	5	932	5	HS6ST3	13	97484962	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1243498	97484962	17684916	6008	29959											
RAP2A	5911	broad.mit.edu	37	chr13	98116606	98116606	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagtaaaacaatggtggaCgaactctttgcagaaattgt	10	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:98116606C>T	uc001vnd.2	+	2	712	c.462C>T	c.(460-462)GAC>GAT	p.D154D		NM_021033	NP_066361	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family precursor	154					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)	1	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			CAATGGTGGACGAACTCTTTG	0.463													T	98116606	C	T	98116606	2	4	27	1	0	0	0	0	0	0	0	1	13040	535	19	1		1	RAP2A	13	98116606	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	631644	98116606	17053272	6009	29960											
IPO5	3843	broad.mit.edu	37	chr13	98660323	98660323	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcctctagttcatgcaggAtgcatcagatgtgatgcagc	10	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:98660323A>G	uc001vnf.1	+	15	1792	c.1727A>G	c.(1726-1728)GAT>GGT	p.D576G	IPO5_uc001vne.2_Missense_Mutation_p.D594G|IPO5_uc010tik.1_Missense_Mutation_p.D451G|IPO5_uc010til.1_Missense_Mutation_p.D516G|IPO5_uc001vng.1_Missense_Mutation_p.D197G	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	576					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						TTCATGCAGGATGCATCAGAT	0.373													G	98660323	A	G	98660323	3	3	27	1	0	0	0	0	1	0	0	0	7796	333	12	3	1843	3	IPO5	13	98660323	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	543717	98660323	16509555	6010	29961											
IPO5	3843	broad.mit.edu	37	chr13	98662198	98662198	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaaagaatttcagcaaTaccttccagtggttatgggg	11	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:98662198T>A	uc001vnf.1	+	16	1929	c.1864T>A	c.(1864-1866)TAC>AAC	p.Y622N	IPO5_uc001vne.2_Missense_Mutation_p.Y640N|IPO5_uc010tik.1_Missense_Mutation_p.Y497N|IPO5_uc010til.1_Missense_Mutation_p.Y562N|IPO5_uc001vng.1_Missense_Mutation_p.Y243N	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	622					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						ATTTCAGCAATACCTTCCAGT	0.368													A	98662198	T	A	98662198	3	1	27	1	0	0	0	0	1	0	0	0	7796	1406	49	5	1984	5	IPO5	13	98662198	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1875	98662198	16507680	6011	29962											
IPO5	3843	broad.mit.edu	37	chr13	98666423	98666423	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attaaggccattggtacagaAccagattcagacgtcctctc	8	11	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:98666423A>T	uc001vne.2	+	22	2514	c.2334A>T	c.(2332-2334)GAA>GAT	p.E778D		NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	760					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						TTGGTACAGAACCAGATTCAG	0.383													T	98666423	A	T	98666423	3	4	27	1	0	0	0	0	1	0	0	0	7796	40	2	5	2412	5	IPO5	13	98666423	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4225	98666423	16503455	6012	29963											
IPO5	3843	broad.mit.edu	37	chr13	98671963	98671963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagcctgactgtgtaaacGttgaagaggtccttccacac	9	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:98671963G>A	uc001vne.2	+	27	3199	c.3019G>A	c.(3019-3021)GTT>ATT	p.V1007I		NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	989					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						CTGTGTAAACGTTGAAGAGGT	0.418													A	98671963	G	A	98671963	3	1	27	1	0	0	0	0	1	0	0	0	7796	1145	40	1	3117	1	IPO5	13	98671963	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5540	98671963	16497915	6013	29964											
IPO5	3843	broad.mit.edu	37	chr13	98673356	98673356	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatgaagatccttgtgccaAacgtctggccaatgtcgttc	9	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:98673356A>G	uc001vne.2	+	28	3410	c.3230A>G	c.(3229-3231)AAA>AGA	p.K1077R		NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	1059					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						CCTTGTGCCAAACGTCTGGCC	0.413													G	98673356	A	G	98673356	3	3	27	1	0	0	0	0	1	0	0	0	7796	14	1	3	3332	3	IPO5	13	98673356	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1393	98673356	16496522	6014	29965											
DOCK9	23348	broad.mit.edu	37	chr13	99461670	99461670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgagtgcatgacctcgGtcactttgctgtaggcccgg	14	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:99461670G>A	uc001vnt.2	-	48	5361	c.5306C>T	c.(5305-5307)ACC>ATC	p.T1769I	DOCK9_uc001vnw.2_Missense_Mutation_p.T1768I|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.T1746I|DOCK9_uc001vnq.2_Missense_Mutation_p.T318I|DOCK9_uc001vnr.2_Missense_Mutation_p.T412I|DOCK9_uc010tin.1_Missense_Mutation_p.T389I|DOCK9_uc001vns.2_Missense_Mutation_p.T318I|DOCK9_uc010tio.1_Missense_Mutation_p.T438I|DOCK9_uc010tip.1_Missense_Mutation_p.T479I|DOCK9_uc001vnu.1_Missense_Mutation_p.T318I|DOCK9_uc010tiq.1_Missense_Mutation_p.T724I	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1769	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CATGACCTCGGTCACTTTGCT	0.572													A	99461670	G	A	99461670	3	1	27	1	0	0	0	0	1	0	0	0	4694	1261	44	4	935	4	DOCK9	13	99461670	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	788314	99461670	15708208	6015	29966											
DOCK9	23348	broad.mit.edu	37	chr13	99476757	99476757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcatccttgtctaaacacGcctaggaagagaggaaggag	13	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:99476757G>A	uc001vnt.2	-	46	5083	c.5028C>T	c.(5026-5028)GGC>GGT	p.G1676G	DOCK9_uc001vnw.2_Silent_p.G1675G|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.G1653G|DOCK9_uc001vnq.2_Silent_p.G225G|DOCK9_uc001vnr.2_Silent_p.G319G|DOCK9_uc010tin.1_Silent_p.G296G|DOCK9_uc001vns.2_Silent_p.G225G|DOCK9_uc010tio.1_Silent_p.G345G|DOCK9_uc010tip.1_Silent_p.G386G|DOCK9_uc001vnu.1_Silent_p.G225G|DOCK9_uc010tiq.1_Silent_p.G631G	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1676	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTCTAAACACGCCTAGGAAGA	0.517													A	99476757	G	A	99476757	2	1	27	1	0	0	0	0	0	0	0	1	4694	1101	38	1		1	DOCK9	13	99476757	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	15087	99476757	15693121	6016	29967											
DOCK9	23348	broad.mit.edu	37	chr13	99538086	99538086	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgggcaactctattttaatCtgcaagggaagacaaaataa	9	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:99538086C>T	uc001vnt.2	-	20	2195	c.2140_splice	c.e20-1	p.I714_splice	DOCK9_uc001vnw.2_Splice_Site_p.I713_splice|DOCK9_uc001vnv.1_Splice_Site|DOCK9_uc010tir.1_Splice_Site_p.I714_splice|DOCK9_uc010tis.1_Splice_Site_p.I713_splice|DOCK9_uc010tit.1_Splice_Site_p.I714_splice|DOCK9_uc010afu.1_Splice_Site_p.I529_splice	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a						blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTATTTTAATCTGCAAGGGAA	0.413													T	99538086	C	T	99538086	5	4	27	1	0	0	0	0	0	0	1	0	4694	927	32	4	4279	4	DOCK9	13	99538086	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	61329	99538086	15631792	6017	29968											
ZIC5	85416	broad.mit.edu	37	chr13	100617835	100617835	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacaggggacaagggggcGcccactggagtccccactga	15	13	0	1	rs148340592	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:100617835G>A	uc001vom.1	-	2	2037	c.1788C>T	c.(1786-1788)GGC>GGT	p.G596G		NM_033132	NP_149123	Q96T25	ZIC5_HUMAN	zinc finger protein of the cerebellum 5	596					cell differentiation	nucleus	DNA binding|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACAAGGGGGCGCCCACTGGAG	0.602													A	100617835	G	A	100617835	2	1	27	1	0	0	0	0	0	0	0	1	17679	1074	38	1		1	ZIC5	13	100617835	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1079749	100617835	14552043	6018	29969											
PCCA	5095	broad.mit.edu	37	chr13	100959498	100959498	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgatattagcatttattatgAtcctatgatttcaaaagtta	5	4	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:100959498A>T	uc001voo.2	+	15	1375	c.1337A>T	c.(1336-1338)GAT>GTT	p.D446V	PCCA_uc010aga.2_Missense_Mutation_p.D420V|PCCA_uc010tiz.1_Missense_Mutation_p.D446V|PCCA_uc001vop.2_RNA	NM_000282	NP_000273	P05165	PCCA_HUMAN	propionyl-Coenzyme A carboxylase, alpha	446	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			skin(2)	2	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	ATTTATTATGATCCTATGATT	0.313													T	100959498	A	T	100959498	3	4	27	1	0	0	0	0	1	0	0	0	11504	333	12	5	1395	5	PCCA	13	100959498	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	341663	100959498	14210380	6019	29970											
TMTC4	84899	broad.mit.edu	37	chr13	101277794	101277794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccccgcgcttaccagacGcccgaggttgtagtaacagt	11	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:101277794G>A	uc001vou.2	-	14	1934	c.1774C>T	c.(1774-1776)CGT>TGT	p.R592C	TMTC4_uc001vot.2_Missense_Mutation_p.R611C|TMTC4_uc010tja.1_Missense_Mutation_p.R481C|TMTC4_uc001vov.1_Missense_Mutation_p.R337C|TMTC4_uc001vow.1_Missense_Mutation_p.R375C	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	592	TPR 5.					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTACCAGACGCCCGAGGTTG	0.458													A	101277794	G	A	101277794	3	1	27	1	0	0	0	0	1	0	0	0	16260	1087	38	1	471	1	TMTC4	13	101277794	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	318296	101277794	13892084	6020	29971											
TMTC4	84899	broad.mit.edu	37	chr13	101287129	101287129	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactccgccactcgccgctgCgcagcacacatctcagcgtg	9	19	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:101287129C>A	uc001vou.2	-	11	1539	c.1379G>T	c.(1378-1380)CGC>CTC	p.R460L	TMTC4_uc001vot.2_Missense_Mutation_p.R479L|TMTC4_uc010tja.1_Missense_Mutation_p.R349L|TMTC4_uc001vov.1_Missense_Mutation_p.R205L|TMTC4_uc001vow.1_Missense_Mutation_p.R243L	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	460	TPR 1.|Helical; (Potential).					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTCGCCGCTGCGCAGCACACA	0.488													A	101287129	C	A	101287129	3	1	27	1	0	0	0	0	1	0	0	0	16260	768	27	5	878	5	TMTC4	13	101287129	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	9335	101287129	13882749	6021	29972											
TMTC4	84899	broad.mit.edu	37	chr13	101290265	101290265	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaccaagatgtcaaatacCgcatttaaaccctaagaaag	5	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:101290265C>T	uc001vou.2	-	7	856	c.696G>A	c.(694-696)GCG>GCA	p.A232A	TMTC4_uc001vot.2_Silent_p.A251A|TMTC4_uc010tja.1_Silent_p.A121A|TMTC4_uc001vov.1_5'UTR|TMTC4_uc001vow.1_Silent_p.A15A	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	232	Helical; (Potential).					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGTCAAATACCGCATTTAAAC	0.398													T	101290265	C	T	101290265	2	4	27	1	0	0	0	0	0	0	0	1	16260	639	23	1		1	TMTC4	13	101290265	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3136	101290265	13879613	6022	29973											
NALCN	259232	broad.mit.edu	37	chr13	101707766	101707766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggggttcattttgcacaCgacagatttcatggttgtcc	10	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:101707766C>T	uc001vox.1	-	44	5287	c.5098G>A	c.(5098-5100)GTG>ATG	p.V1700M		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1700	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATTTTGCACACGACAGATTTC	0.507													T	101707766	C	T	101707766	3	4	27	1	0	0	0	0	1	0	0	0	10148	536	19	1	122	1	NALCN	13	101707766	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	417501	101707766	13462112	6023	29974											
NALCN	259232	broad.mit.edu	37	chr13	101733920	101733920	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccatacaacgccaagcgaCgtcaccaggagatcgtatcg	9	14	1	1	rs151200877	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:101733920C>T	uc001vox.1	-	34	4032	c.3843G>A	c.(3841-3843)ACG>ACA	p.T1281T		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1281	Helical; Name=S3 of repeat IV; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CGCCAAGCGACGTCACCAGGA	0.458													T	101733920	C	T	101733920	2	4	27	1	0	0	0	0	0	0	0	1	10148	523	19	1		1	NALCN	13	101733920	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	26154	101733920	13435958	6024	29975											
NALCN	259232	broad.mit.edu	37	chr13	101757279	101757279	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtatttttcacagctcCtgtgacagggtctgttttag	9	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:101757279C>A	uc001vox.1	-	23	2791	c.2602G>T	c.(2602-2604)GGA>TGA	p.G868*		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	868	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTCACAGCTCCTGTGACAGGG	0.318													A	101757279	C	A	101757279	4	1	27	1	0	0	0	0	0	1	0	0	10148	690	24	5	2702	5	NALCN	13	101757279	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	23359	101757279	13412599	6025	29976											
NALCN	259232	broad.mit.edu	37	chr13	101910797	101910797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggagagctgcttacctcCgccaggtagaactcgtcgta	13	11	0	2	rs140469887		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:101910797C>T	uc001vox.1	-	11	1452	c.1263G>A	c.(1261-1263)GCG>GCA	p.A421A	NALCN_uc001voy.2_Silent_p.A136A|NALCN_uc001voz.2_Silent_p.A421A|NALCN_uc001vpa.2_Silent_p.A421A	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	421	Extracellular (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGCTTACCTCCGCCAGGTAGA	0.542													T	101910797	C	T	101910797	2	4	27	1	0	0	0	0	0	0	0	1	10148	639	23	1		1	NALCN	13	101910797	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	153518	101910797	13259081	6026	29977											
C13orf27	93081	broad.mit.edu	37	chr13	103420632	103420632	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaaaaacacctgcaagTttgtattctcctgatgtctt	6	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:103420632T>C	uc001vpo.2	-	4	454	c.276A>G	c.(274-276)AAA>AAG	p.K92K	C13orf27_uc001vpn.2_Silent_p.K51K|C13orf27_uc001vpp.2_Silent_p.K51K	NM_138779	NP_620134	Q5JUR7	CM027_HUMAN	hypothetical protein LOC93081	92											0	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CACCTGCAAGTTTGTATTCTC	0.299													C	103420632	T	C	103420632	2	2	27	1	0	0	0	0	0	0	0	1	1723	1722	60	3		3	C13orf27	13	103420632	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1509835	103420632	11749246	6027	29978											
KDELC1	79070	broad.mit.edu	37	chr13	103449358	103449358	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcctggagaagatgtgaAtctgtgatgaaaaggcaatg	13	5	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:103449358A>T	uc001vpq.3	-	2	568	c.184T>A	c.(184-186)TTC>ATC	p.F62I	KDELC1_uc001vpr.3_5'UTR|BIVM_uc001vps.2_5'Flank|BIVM_uc010agc.2_5'Flank	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1 precursor	62	Filamin.					endoplasmic reticulum lumen				ovary(1)	1	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GAAGATGTGAATCTGTGATGA	0.433													T	103449358	A	T	103449358	3	4	27	1	0	0	0	0	1	0	0	0	8117	115	4	5	1360	5	KDELC1	13	103449358	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	28726	103449358	11720520	6028	29979											
ERCC5	2073	broad.mit.edu	37	chr13	103459814	103459814	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gactcatacacgggaaaaaaTttatgccatctgttcggact	8	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:103459814T>A	uc001vpu.1	+	1	319	c.197T>A	c.(196-198)ATT>AAT	p.I66N	BIVM_uc001vps.2_Missense_Mutation_p.I66N|BIVM_uc010agc.2_Intron|BIVM_uc001vpt.2_Missense_Mutation_p.I66N	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	Error:Variant_position_missing_in_P28715_after_alignment					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CGGGAAAAAATTTATGCCATC	0.473			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				A	103459814	T	A	103459814	3	1	27	1	0	0	0	0	1	0	0	0	5216	1493	52	5		5	ERCC5	13	103459814	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	10456	103459814	11710064	6029	29980											
EFNB2	1948	broad.mit.edu	37	chr13	107145577	107145577	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcttgggtgtggccagTgtgctgagcgacagcgtggt	18	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:107145577T>C	uc001vqi.2	-	5	838	c.813A>G	c.(811-813)ACA>ACG	p.T271T		NM_004093	NP_004084	P52799	EFNB2_HUMAN	ephrin B2 precursor	271	Cytoplasmic (Potential).				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			ovary(1)	1	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GTGTGGCCAGTGTGCTGAGCG	0.557													C	107145577	T	C	107145577	2	2	27	1	0	0	0	0	0	0	0	1	4956	1683	59	3		3	EFNB2	13	107145577	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3685763	107145577	8024301	6030	29981											
EFNB2	1948	broad.mit.edu	37	chr13	107148116	107148116	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttgtccaactttcatgaggAtcttcatggctcttgtctgg	9	10	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:107148116A>T	uc001vqi.2	-	3	504	c.479T>A	c.(478-480)ATC>AAC	p.I160N		NM_004093	NP_004084	P52799	EFNB2_HUMAN	ephrin B2 precursor	160	Extracellular (Potential).				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			ovary(1)	1	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TTTCATGAGGATCTTCATGGC	0.483													T	107148116	A	T	107148116	3	4	27	1	0	0	0	0	1	0	0	0	4956	333	12	5	534	5	EFNB2	13	107148116	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2539	107148116	8021762	6031	29982											
FAM155A	728215	broad.mit.edu	37	chr13	108518877	108518877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaacggtttctcgttctctCggggtgctgccaaccagatt	11	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:108518877C>T	uc001vql.2	-	1	584	c.68G>A	c.(67-69)CGA>CAA	p.R23Q		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	23						integral to membrane	binding			skin(1)	1						CTCGTTCTCTCGGGGTGCTGC	0.532													T	108518877	C	T	108518877	3	4	27	1	0	0	0	0	1	0	0	0	5465	884	31	1	1320	1	FAM155A	13	108518877	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1370761	108518877	6651001	6032	29983											
LIG4	3981	broad.mit.edu	37	chr13	108861796	108861796	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttagatgcgagcttaccAgatgccttccccctaagttg	9	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:108861796A>G	uc001vqn.2	-	2	2094	c.1821T>C	c.(1819-1821)TCT>TCC	p.S607S	LIG4_uc001vqo.2_Silent_p.S607S|LIG4_uc010agg.1_Silent_p.S540S|LIG4_uc010agf.2_Silent_p.S607S|LIG4_uc001vqp.2_Silent_p.S607S	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	607					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CGAGCTTACCAGATGCCTTCC	0.438								NHEJ					G	108861796	A	G	108861796	2	3	27	1	0	0	0	0	0	0	0	1	8783	175	7	3		3	LIG4	13	108861796	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	342919	108861796	6308082	6033	29984											
LIG4	3981	broad.mit.edu	37	chr13	108861807	108861807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcttaccagatgccttccCcctaagttgttctaggtcgt	9	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:108861807C>T	uc001vqn.2	-	2	2083	c.1810G>A	c.(1810-1812)GGG>AGG	p.G604R	LIG4_uc001vqo.2_Missense_Mutation_p.G604R|LIG4_uc010agg.1_Missense_Mutation_p.G537R|LIG4_uc010agf.2_Missense_Mutation_p.G604R|LIG4_uc001vqp.2_Missense_Mutation_p.G604R	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	604					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GATGCCTTCCCCCTAAGTTGT	0.448								NHEJ					T	108861807	C	T	108861807	3	4	27	1	0	0	0	0	1	0	0	0	8783	623	22	4	929	4	LIG4	13	108861807	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	11	108861807	6308071	6034	29985											
LIG4	3981	broad.mit.edu	37	chr13	108861847	108861847	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagggtcatgcactcatgCcactccttgtcatctcttat	6	14	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:108861847C>T	uc001vqn.2	-	2	2043	c.1770G>A	c.(1768-1770)TGG>TGA	p.W590*	LIG4_uc001vqo.2_Nonsense_Mutation_p.W590*|LIG4_uc010agg.1_Nonsense_Mutation_p.W523*|LIG4_uc010agf.2_Nonsense_Mutation_p.W590*|LIG4_uc001vqp.2_Nonsense_Mutation_p.W590*	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	590					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TGCACTCATGCCACTCCTTGT	0.448								NHEJ					T	108861847	C	T	108861847	4	4	27	1	0	0	0	0	0	1	0	0	8783	740	26	2	969	2	LIG4	13	108861847	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	40	108861847	6308031	6035	29986											
LIG4	3981	broad.mit.edu	37	chr13	108862965	108862965	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactttttccagatctgtagTgacattatgcaactcagcag	8	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:108862965T>C	uc001vqn.2	-	2	925	c.652A>G	c.(652-654)ACT>GCT	p.T218A	LIG4_uc001vqo.2_Missense_Mutation_p.T218A|LIG4_uc010agg.1_Missense_Mutation_p.T151A|LIG4_uc010agf.2_Missense_Mutation_p.T218A|LIG4_uc001vqp.2_Missense_Mutation_p.T218A	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	218					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AGATCTGTAGTGACATTATGC	0.368								NHEJ					C	108862965	T	C	108862965	3	2	27	1	0	0	0	0	1	0	0	0	8783	1696	59	3	2087	3	LIG4	13	108862965	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1118	108862965	6306913	6036	29987											
MYO16	23026	broad.mit.edu	37	chr13	109438032	109438032	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaatggaaatatcccattagAttatgctgtagaagggacag	11	5	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:109438032A>T	uc001vqt.1	+	5	617	c.491A>T	c.(490-492)GAT>GTT	p.D164V	MYO16_uc010agk.1_Missense_Mutation_p.D186V	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	164	ANK 4.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ATCCCATTAGATTATGCTGTA	0.333													T	109438032	A	T	109438032	3	4	27	1	0	0	0	0	1	0	0	0	10064	333	12	5	505	5	MYO16	13	109438032	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	575067	109438032	5731846	6037	29988											
MYO16	23026	broad.mit.edu	37	chr13	109831918	109831918	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagatggatactcacgGttgtctataagtggcacagg	13	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:109831918G>A	uc001vqt.1	+	34	5412	c.5286G>A	c.(5284-5286)CGG>CGA	p.R1762R	MYO16_uc010agk.1_Silent_p.R1784R	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1762					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GATACTCACGGTTGTCTATAA	0.433													A	109831918	G	A	109831918	2	1	27	1	0	0	0	0	0	0	0	1	10064	1248	44	4		4	MYO16	13	109831918	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	393886	109831918	5337960	6038	29989											
COL4A1	1282	broad.mit.edu	37	chr13	110822921	110822921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggctggccctgaggtcCgcggtctcctttgggcccct	14	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:110822921C>T	uc001vqw.3	-	42	3837	c.3715G>A	c.(3715-3717)GGA>AGA	p.G1239R	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1239	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCTGAGGTCCGCGGTCTCCT	0.627													T	110822921	C	T	110822921	3	4	27	1	0	0	0	0	1	0	0	0	3689	661	23	1	1338	1	COL4A1	13	110822921	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	991003	110822921	4346957	6039	29990											
COL4A1	1282	broad.mit.edu	37	chr13	110862346	110862346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtggtccggtaaatcctGgaggcccaacaggaccttga	13	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:110862346G>A	uc001vqw.3	-	10	718	c.596C>T	c.(595-597)CCA>CTA	p.P199L	COL4A1_uc010agl.2_Missense_Mutation_p.P199L	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	199	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGTAAATCCTGGAGGCCCAAC	0.463													A	110862346	G	A	110862346	3	1	27	1	0	0	0	0	1	0	0	0	3689	1348	47	4	4585	4	COL4A1	13	110862346	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	39425	110862346	4307532	6040	29991											
ING1	3621	broad.mit.edu	37	chr13	111372083	111372083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaacccacgtactgtctgtGcaaccaggtctcctatgggg	11	13	2	0	rs121909250		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:111372083G>A	uc001vri.2	+	2	1505	c.1073G>A	c.(1072-1074)TGC>TAC	p.C358Y	ING1_uc001vrf.2_Missense_Mutation_p.C171Y|ING1_uc001vrg.2_Missense_Mutation_p.C146Y|ING1_uc001vrh.2_Missense_Mutation_p.C215Y	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1 isoform D	358	PHD-type.		C -> S (in HNSCC).		cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			ovary(1)	1	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TACTGTCTGTGCAACCAGGTC	0.597													A	111372083	G	A	111372083	3	1	27	1	0	0	0	0	1	0	0	0	7735	1319	46	2	1227	2	ING1	13	111372083	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	509737	111372083	3797795	6041	29992											
ARHGEF7	8874	broad.mit.edu	37	chr13	111862257	111862257	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actccgtgtgtgcccggcccTcgtctcaccgcataaagtct	9	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:111862257T>C	uc001vrs.2	+	5	689	c.439T>C	c.(439-441)TCG>CCG	p.S147P	ARHGEF7_uc001vrr.2_Missense_Mutation_p.S126P|ARHGEF7_uc001vrt.2_Missense_Mutation_p.S97P|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vru.1_5'UTR|ARHGEF7_uc001vrv.3_Intron|ARHGEF7_uc001vrw.3_5'UTR|ARHGEF7_uc001vrx.3_5'UTR|ARHGEF7_uc010tjo.1_Missense_Mutation_p.S44P	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	147					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGCCCGGCCCTCGTCTCACCG	0.532													C	111862257	T	C	111862257	3	2	27	1	0	0	0	0	1	0	0	0	911	1551	54	3	457	3	ARHGEF7	13	111862257	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	490174	111862257	3307621	6042	29993											
ARHGEF7	8874	broad.mit.edu	37	chr13	111927973	111927973	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcgatgacattaaaactcTgggcaacgtcacttacatgt	10	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:111927973T>C	uc001vrs.2	+	13	1680	c.1430T>C	c.(1429-1431)CTG>CCG	p.L477P	ARHGEF7_uc001vrr.2_Missense_Mutation_p.L456P|ARHGEF7_uc001vrt.2_Missense_Mutation_p.L427P|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Missense_Mutation_p.L299P|ARHGEF7_uc001vrv.3_Missense_Mutation_p.L299P|ARHGEF7_uc001vrw.3_Missense_Mutation_p.L299P|ARHGEF7_uc001vrx.3_Missense_Mutation_p.L299P|ARHGEF7_uc010tjo.1_Missense_Mutation_p.L374P|ARHGEF7_uc010tjp.1_Missense_Mutation_p.L221P|ARHGEF7_uc010agn.1_Missense_Mutation_p.L221P	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	477	PH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ATTAAAACTCTGGGCAACGTC	0.547													C	111927973	T	C	111927973	3	2	27	1	0	0	0	0	1	0	0	0	911	1580	55	3	1480	3	ARHGEF7	13	111927973	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	65716	111927973	3241905	6043	29994											
C13orf28	122258	broad.mit.edu	37	chr13	113053461	113053461	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatttacaattctctcctgGcattgaggtcaaaatttcca	6	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:113053461G>T	uc001vsd.1	+	4	354	c.323G>T	c.(322-324)GGC>GTC	p.G108V		NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN	hypothetical protein LOC122258 precursor	108						extracellular region					0	all_lung(23;0.000633)|Lung NSC(43;0.0161)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0997)|Medulloblastoma(90;0.163)					TTCTCTCCTGGCATTGAGGTC	0.423													T	113053461	G	T	113053461	3	4	27	1	0	0	0	0	1	0	0	0	1724	1203	42	5	337	5	C13orf28	13	113053461	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1125488	113053461	2116417	6044	29995											
ATP11A	23250	broad.mit.edu	37	chr13	113532535	113532535	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacctcgggactaagactaAgagccagtgcctttctgtcg	11	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:113532535A>G	uc001vsi.3	+	29	3420	c.3332A>G	c.(3331-3333)AAG>AGG	p.K1111R	ATP11A_uc001vsj.3_Intron|ATP11A_uc010ago.2_RNA	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	1111	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACTAAGACTAAGAGCCAGTGC	0.527													G	113532535	A	G	113532535	3	3	27	1	0	0	0	0	1	0	0	0	1119	72	3	3	3446	3	ATP11A	13	113532535	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	479074	113532535	1637343	6045	29996											
MCF2L	23263	broad.mit.edu	37	chr13	113669143	113669143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggaccagctaaagaagcGctttgcttacctgtccggtg	11	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:113669143G>A	uc001vsu.2	+	2	339	c.317G>A	c.(316-318)CGC>CAC	p.R106H	MCF2L_uc001vsq.2_Missense_Mutation_p.R106H|MCF2L_uc010tjr.1_Missense_Mutation_p.R49H|MCF2L_uc001vsr.2_Missense_Mutation_p.R53H|MCF2L_uc001vss.3_Missense_Mutation_p.R47H|MCF2L_uc010tjs.1_Missense_Mutation_p.R47H	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	79	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CTAAAGAAGCGCTTTGCTTAC	0.632													A	113669143	G	A	113669143	3	1	27	1	0	0	0	0	1	0	0	0	9379	1087	38	1	418	1	MCF2L	13	113669143	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	136608	113669143	1500735	6046	29997											
F7	2155	broad.mit.edu	37	chr13	113773089	113773089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacggagtacatgttctgtGccggctactcggatggcagc	13	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:113773089G>A	uc001vsv.2	+	9	1219	c.1168G>A	c.(1168-1170)GCC>ACC	p.A390T	F7_uc001vsw.2_Missense_Mutation_p.A368T|F7_uc010tjt.1_Missense_Mutation_p.A321T	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	390	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CATGTTCTGTGCCGGCTACTC	0.622													A	113773089	G	A	113773089	3	1	27	1	0	0	0	0	1	0	0	0	5349	1319	46	2	1202	2	F7	13	113773089	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	103946	113773089	1396789	6047	29998											
LAMP1	3916	broad.mit.edu	37	chr13	113975975	113975975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtccgtgtcacgaaggcGttttcagtcaatatattcaa	8	10	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:113975975G>A	uc001vtm.1	+	8	1328	c.1047G>A	c.(1045-1047)GCG>GCA	p.A349A	LAMP1_uc010tka.1_Silent_p.A296A	NM_005561	NP_005552	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	349	Lumenal (Potential).|Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				central_nervous_system(2)	2	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TCACGAAGGCGTTTTCAGTCA	0.582													A	113975975	G	A	113975975	2	1	27	1	0	0	0	0	0	0	0	1	8617	1132	40	1		1	LAMP1	13	113975975	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	202886	113975975	1193903	6048	29999											
GRK1	6011	broad.mit.edu	37	chr13	114324068	114324068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcgtgtctctggcctatGcgtttgaaaccaaagccgac	9	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:114324068G>A	uc010tkf.1	+	2	874	c.766G>A	c.(766-768)GCG>ACG	p.A256T		NM_002929	NP_002920	Q15835	RK_HUMAN	rhodopsin kinase precursor	256	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			TCTGGCCTATGCGTTTGAAAC	0.542													A	114324068	G	A	114324068	3	1	27	1	0	0	0	0	1	0	0	0	6790	1319	46	2	772	2	GRK1	13	114324068	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	348093	114324068	845810	6049	30000											
GAS6	2621	broad.mit.edu	37	chr13	114537624	114537624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagacctgctcacagcggCcctgcagacactcgtccaca	9	18	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:114537624C>T	uc001vud.2	-	8	887	c.734G>A	c.(733-735)GGC>GAC	p.G245D	GAS6_uc001vug.2_5'Flank|GAS6_uc001vuf.2_5'UTR	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	245	EGF-like 4; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CTCACAGCGGCCCTGCAGACA	0.662													T	114537624	C	T	114537624	3	4	27	1	0	0	0	0	1	0	0	0	6249	739	26	2	1334	2	GAS6	13	114537624	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	213556	114537624	632254	6050	30001											
RASA3	22821	broad.mit.edu	37	chr13	114780792	114780792	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggaagacgcggtccacaTactgccgtaggttctcctgc	12	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr13:114780792T>C	uc001vui.2	-	14	1429	c.1298A>G	c.(1297-1299)TAT>TGT	p.Y433C	RASA3_uc010tkk.1_Missense_Mutation_p.Y401C|RASA3_uc001vuj.2_Missense_Mutation_p.Y50C	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	433	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GCGGTCCACATACTGCCGTAG	0.672													C	114780792	T	C	114780792	3	2	27	1	0	0	0	0	1	0	0	0	13062	1406	49	3	1250	3	RASA3	13	114780792	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	243168	114780792	389086	6051	30002											
OR4Q3	441669	broad.mit.edu	37	chr14	20215683	20215683	+	Frame_Shift_Del	DEL	T	T	-													ttctcttcttactatttttgTttttttacattgctattgtc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:20215682_20215682GT>G	uc010tkt.2	+	0	96	c.96_96GT>G	c.(94-96)ttgfs	p.L32fs		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACTATTTTTGTTTTTTTACA	0.383													-	20215683	T	-	20215683	7	5	27	1	0	1	0	1	0	0	0	0	11081	1725	60	0	99	0	OR4Q3	14	20215683	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08		20215683	87133857	6052	30003											
OR4M1	441670	broad.mit.edu	37	chr14	20249085	20249085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagttagtgatgatctgtAgtagtggtctgatctctgtg	14	4	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:20249085A>G	uc010tku.1	+	1	604	c.604A>G	c.(604-606)AGT>GGT	p.S202G		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	202	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GATGATCTGTAGTAGTGGTCT	0.478													G	20249085	A	G	20249085	3	3	27	1	0	0	0	0	1	0	0	0	11075	420	15	3	606	3	OR4M1	14	20249085	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	33402	20249085	87100455	6053	30004											
OR4N2	390429	broad.mit.edu	37	chr14	20296017	20296017	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcactatcctactgtcatgaAccctagaacctgctatgcaa	6	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:20296017A>T	uc010tkv.1	+	1	410	c.410A>T	c.(409-411)AAC>ATC	p.N137I		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	137	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACTGTCATGAACCCTAGAACC	0.532													T	20296017	A	T	20296017	3	4	27	1	0	0	0	0	1	0	0	0	11077	43	2	5	412	5	OR4N2	14	20296017	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	46932	20296017	87053523	6054	30005											
OR4K5	79317	broad.mit.edu	37	chr14	20389618	20389618	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacccccgtcctaaaccccAttatttatacactaaggaat	3	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:20389618A>G	uc010tkw.1	+	1	853	c.853A>G	c.(853-855)ATT>GTT	p.I285V		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTAAACCCCATTATTTATAC	0.408													G	20389618	A	G	20389618	3	3	27	1	0	0	0	0	1	0	0	0	11073	217	8	3	855	3	OR4K5	14	20389618	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	93601	20389618	86959922	6055	30006											
OR4N5	390437	broad.mit.edu	37	chr14	20612317	20612317	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatgaaccctagagcctgCtatgcattatcgttggttct	8	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:20612317C>T	uc010tla.1	+	1	423	c.423C>T	c.(421-423)TGC>TGT	p.C141C		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CTAGAGCCTGCTATGCATTAT	0.517													T	20612317	C	T	20612317	2	4	27	1	0	0	0	0	0	0	0	1	11079	805	28	2		2	OR4N5	14	20612317	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	222699	20612317	86737223	6056	30007											
OR11G2	390439	broad.mit.edu	37	chr14	20666363	20666363	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtggtttcactgttctAcggctcagtactggtcatgt	12	9	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:20666363A>G	uc010tlb.1	+	1	869	c.869A>G	c.(868-870)TAC>TGC	p.Y290C		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G,	290	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TCACTGTTCTACGGCTCAGTA	0.353													G	20666363	A	G	20666363	3	3	27	1	0	0	0	0	1	0	0	0	10925	391	14	3	871	3	OR11G2	14	20666363	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	54046	20666363	86683177	6057	30008											
TEP1	7011	broad.mit.edu	37	chr14	20837723	20837723	+	Frame_Shift_Del	DEL	A	A	-													tcccatcagagctggcacacAaaaatgaggactctgccatt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:20837722_20837722CA>C	uc001vxe.3	-	52	7477	c.7437_7437TG>G	c.(7435-7437)ttgfs	p.L2479fs	TEP1_uc010ahj.1_Intron|TEP1_uc010ahk.3_Frame_Shift_Del_p.L1822fs|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Frame_Shift_Del_p.L2371fs	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	2479					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGCTGGCACACAAAAATGAGG	0.522													-	20837723	A	-	20837723	7	5	27	1	0	1	0	1	0	0	0	0	15756	131	5	0	459	0	TEP1	14	20837723	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	171360	20837723	86511817	6058	30009											
TEP1	7011	broad.mit.edu	37	chr14	20845495	20845495	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcctagcacaggcttctggAatctggacaggagccagagg	14	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:20845495A>G	uc001vxe.2	-	41	6072	c.6032T>C	c.(6031-6033)TTC>TCC	p.F2011S	TEP1_uc010ahk.2_Missense_Mutation_p.F1354S|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.F1903S|TEP1_uc010tlh.1_Missense_Mutation_p.F349S	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2011	WD 10.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGGCTTCTGGAATCTGGACAG	0.532													G	20845495	A	G	20845495	3	3	27	1	0	0	0	0	1	0	0	0	15756	246	9	3	1911	3	TEP1	14	20845495	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	7772	20845495	86504045	6059	30010											
TEP1	7011	broad.mit.edu	37	chr14	20846301	20846301	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccttctcgccaggcccacAgctccaccatactgtccagc	6	21	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:20846301A>C	uc001vxe.2	-	39	5643	c.5603T>G	c.(5602-5604)CTG>CGG	p.L1868R	TEP1_uc010ahk.2_Missense_Mutation_p.L1211R|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.L1760R|TEP1_uc010tlh.1_Missense_Mutation_p.L206R	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1868	WD 6.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCAGGCCCACAGCTCCACCAT	0.642													C	20846301	A	C	20846301	3	2	27	1	0	0	0	0	1	0	0	0	15756	188	7	5	2348	5	TEP1	14	20846301	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	806	20846301	86503239	6060	30011											
TEP1	7011	broad.mit.edu	37	chr14	20846985	20846985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcagcagccagtgatttgGtactggtgagccttagtctg	14	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:20846985G>A	uc001vxe.2	-	37	5320	c.5280C>T	c.(5278-5280)TAC>TAT	p.Y1760Y	TEP1_uc010ahk.2_Silent_p.Y1103Y|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.Y1652Y|TEP1_uc010tlh.1_Silent_p.Y98Y	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1760	WD 4.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGTGATTTGGTACTGGTGAG	0.582													A	20846985	G	A	20846985	2	1	27	1	0	0	0	0	0	0	0	1	15756	1256	44	4		4	TEP1	14	20846985	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	684	20846985	86502555	6061	30012											
TEP1	7011	broad.mit.edu	37	chr14	20850794	20850794	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactgacctgctcatacagCgtgaagagcctcaggtgatc	11	11	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:20850794C>T	uc001vxe.2	-	28	4168	c.4128G>A	c.(4126-4128)ACG>ACA	p.T1376T	TEP1_uc010ahk.2_Silent_p.T719T|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.T1268T|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1376	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCTCATACAGCGTGAAGAGCC	0.547													T	20850794	C	T	20850794	2	4	27	1	0	0	0	0	0	0	0	1	15756	755	27	1		1	TEP1	14	20850794	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3809	20850794	86498746	6062	30013											
TEP1	7011	broad.mit.edu	37	chr14	20859807	20859807	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgcattagcatctgtcAgatagaccaagacagtgcgg	11	9	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:20859807A>G	uc001vxe.2	-	13	2088	c.2048T>C	c.(2047-2049)CTG>CCG	p.L683P	TEP1_uc010ahk.2_Missense_Mutation_p.L33P|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.L575P	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	683					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGCATCTGTCAGATAGACCAA	0.542													G	20859807	A	G	20859807	3	3	27	1	0	0	0	0	1	0	0	0	15756	188	7	3	6007	3	TEP1	14	20859807	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	9013	20859807	86489733	6063	30014											
APEX1	328	broad.mit.edu	37	chr14	20924885	20924885	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agagaccaaatgttcagagaAcaaactaccagctgaacttc	7	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:20924885A>T	uc001vxg.2	+	4	637	c.305A>T	c.(304-306)AAC>ATC	p.N102I	OSGEP_uc001vxf.2_5'Flank|APEX1_uc001vxh.2_Missense_Mutation_p.N102I|APEX1_uc001vxi.2_Missense_Mutation_p.N102I|APEX1_uc001vxj.2_Missense_Mutation_p.N102I	NM_001641	NP_001632	P27695	APEX1_HUMAN	APEX nuclease 1	102					base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			ovary(2)|breast(2)	4	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	TGTTCAGAGAACAAACTACCA	0.473								Direct_reversal_of_damage|Other_BER_factors					T	20924885	A	T	20924885	3	4	27	1	0	0	0	0	1	0	0	0	769	43	2	5	315	5	APEX1	14	20924885	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	65078	20924885	86424655	6064	30015											
RNASE3	6037	broad.mit.edu	37	chr14	21360111	21360111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtaaccaaagtatacgctGccctcataacagaactctca	6	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:21360111G>A	uc001vyj.2	+	2	320	c.266G>A	c.(265-267)TGC>TAC	p.C89Y		NM_002935	NP_002926	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3 (eosinophil	89					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	AGTATACGCTGCCCTCATAAC	0.388													A	21360111	G	A	21360111	3	1	27	1	0	0	0	0	1	0	0	0	13405	1319	46	2	268	2	RNASE3	14	21360111	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	435226	21360111	85989429	6065	30016											
FLJ10357	55701	broad.mit.edu	37	chr14	21553928	21553928	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcggcggcggcgtgcacgAgaggcatacactctgcaggc	15	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:21553928A>G	uc001vzp.2	+	19	4070	c.4041A>G	c.(4039-4041)CGA>CGG	p.R1347R	FLJ10357_uc001vzo.1_Silent_p.R426R|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Silent_p.R633R	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	1347	PH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		GGCGTGCACGAGAGGCATACA	0.557													G	21553928	A	G	21553928	2	3	27	1	0	0	0	0	0	0	0	1	5926	291	11	3		3	FLJ10357	14	21553928	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	193817	21553928	85795612	6066	30017											
HNRNPC	3183	broad.mit.edu	37	chr14	21679995	21679995	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtttgctctgttccttttcaAttttttccaggttttccagg	7	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:21679995A>T	uc001vzy.2	-	7	894	c.650T>A	c.(649-651)ATT>AAT	p.I217N	HNRNPC_uc001vzw.2_Missense_Mutation_p.I204N|HNRNPC_uc001wad.2_Missense_Mutation_p.I137N|HNRNPC_uc001vzx.2_Intron|HNRNPC_uc001vzz.2_Missense_Mutation_p.I204N|HNRNPC_uc001waa.2_Missense_Mutation_p.I217N|HNRNPC_uc010ail.2_Missense_Mutation_p.I217N|HNRNPC_uc010tlq.1_RNA|HNRNPC_uc001wab.2_Missense_Mutation_p.I204N|HNRNPC_uc001wac.2_Missense_Mutation_p.I161N|HNRNPC_uc010tlr.1_Missense_Mutation_p.I82N|HNRNPC_uc001waf.2_Missense_Mutation_p.I204N|HNRNPC_uc001wae.2_Missense_Mutation_p.I204N	NM_031314	NP_112604	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C	217	Asp/Glu-rich (acidic).			I -> M (in Ref. 1 and 2).		catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding				0	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		TTCCTTTTCAATTTTTTCCAG	0.393													T	21679995	A	T	21679995	3	4	27	1	0	0	0	0	1	0	0	0	7262	101	4	5	282	5	HNRNPC	14	21679995	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	126067	21679995	85669545	6067	30018											
CHD8	57680	broad.mit.edu	37	chr14	21860770	21860770	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcctcctctgccatggAagctgcactactacttcgtg	8	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:21860770A>G	uc001was.1	-	34	5924	c.5830T>C	c.(5830-5832)TCC>CCC	p.S1944P	CHD8_uc001war.1_Missense_Mutation_p.S1840P|SNORD9_uc001wat.1_5'Flank	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2223					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCTGCCATGGAAGCTGCACTA	0.517													G	21860770	A	G	21860770	3	3	27	1	0	0	0	0	1	0	0	0	3331	246	9	3	1098	3	CHD8	14	21860770	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	180775	21860770	85488770	6068	30019											
METTL3	56339	broad.mit.edu	37	chr14	21971372	21971372	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagaaggctctctatctccaGatcaacatctgaggcagcat	8	12	4	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:21971372G>A	uc001wbc.2	-	3	759	c.667C>T	c.(667-669)CTG>TTG	p.L223L	METTL3_uc001wbb.2_Silent_p.L68L|METTL3_uc010tlw.1_RNA|METTL3_uc010tlx.1_Silent_p.L223L|METTL3_uc001wbd.1_Silent_p.L223L	NM_019852	NP_062826	Q86U44	MTA70_HUMAN	methyltransferase like 3	223					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			pancreas(1)|skin(1)	2	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TCTATCTCCAGATCAACATCT	0.448													A	21971372	G	A	21971372	2	1	27	1	0	0	0	0	0	0	0	1	9501	933	33	4		4	METTL3	14	21971372	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	110602	21971372	85378168	6069	30020											
OXA1L	5018	broad.mit.edu	37	chr14	23239726	23239726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatggccaaccttcctgtGcccagcctgcagacaggtgg	13	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:23239726G>A	uc001wgn.2	+	6	906	c.906G>A	c.(904-906)GTG>GTA	p.V302V	OXA1L_uc001wgo.2_RNA|OXA1L_uc010akc.2_Silent_p.V302V|OXA1L_uc001wgp.2_Silent_p.V226V|OXA1L_uc001wgq.2_Silent_p.V6V	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	242	Mitochondrial matrix (Potential).				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)	1	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		ACCTTCCTGTGCCCAGCCTGC	0.502													A	23239726	G	A	23239726	2	1	27	1	0	0	0	0	0	0	0	1	11328	1306	46	2		2	OXA1L	14	23239726	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1268354	23239726	84109814	6070	30021											
PRMT5	10419	broad.mit.edu	37	chr14	23394198	23394198	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtattggaggtaggagcagaActccttctctgagtggtggt	15	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:23394198A>G	uc001whm.1	-	8	920	c.829T>C	c.(829-831)TTC>CTC	p.F277L	PRMT5_uc001whl.1_Missense_Mutation_p.F260L|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Missense_Mutation_p.F171L|PRMT5_uc010tng.1_Missense_Mutation_p.F216L|PRMT5_uc010tnh.1_Missense_Mutation_p.F233L|PRMT5_uc001whn.1_Missense_Mutation_p.F106L	NM_006109	NP_006100	O14744	ANM5_HUMAN	protein arginine methyltransferase 5 isoform a	277					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			ovary(1)	1	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TAGGAGCAGAACTCCTTCTCT	0.488													G	23394198	A	G	23394198	3	3	27	1	0	0	0	0	1	0	0	0	12539	43	2	3	1124	3	PRMT5	14	23394198	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	154472	23394198	83955342	6071	30022											
C14orf93	60686	broad.mit.edu	37	chr14	23467914	23467914	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccccatcttcatcagggaTggacactttcccttgcctca	6	15	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:23467914T>C	uc001wib.1	-	2	629	c.319A>G	c.(319-321)ATC>GTC	p.I107V	C14orf93_uc001wic.1_5'UTR|C14orf93_uc001wid.1_Missense_Mutation_p.I107V|C14orf93_uc001wig.2_Missense_Mutation_p.I107V|C14orf93_uc001wih.2_Missense_Mutation_p.I107V|C14orf93_uc001wie.2_Missense_Mutation_p.I107V|C14orf93_uc001wia.3_Missense_Mutation_p.I107V|C14orf93_uc001wif.2_5'UTR	NM_021944	NP_068763	Q9H972	CN093_HUMAN	hypothetical protein LOC60686 precursor	107						extracellular region				ovary(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TCATCAGGGATGGACACTTTC	0.567													C	23467914	T	C	23467914	3	2	27	1	0	0	0	0	1	0	0	0	1782	1464	51	3	1321	3	C14orf93	14	23467914	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	73716	23467914	83881626	6072	30023											
ACIN1	22985	broad.mit.edu	37	chr14	23530297	23530297	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagaagagcactcacctggCtgtcagtcagtgggagccaa	13	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:23530297C>A	uc001wit.3	-	18	4023	c.3695G>T	c.(3694-3696)AGC>ATC	p.S1232I	ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.S474I|ACIN1_uc001wiq.3_Missense_Mutation_p.S474I|ACIN1_uc001wir.3_Missense_Mutation_p.S505I|ACIN1_uc001wis.3_Missense_Mutation_p.S913I|ACIN1_uc010akg.2_Missense_Mutation_p.S1219I	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1232	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ACTCACCTGGCTGTCAGTCAG	0.577													A	23530297	C	A	23530297	3	1	27	1	0	0	0	0	1	0	0	0	142	797	28	5	338	5	ACIN1	14	23530297	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	62383	23530297	83819243	6073	30024											
HOMEZ	57594	broad.mit.edu	37	chr14	23745847	23745847	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actcctttaatttctggtgaCtctgtggcagtggtggcatc	11	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:23745847C>G	uc001wja.2	-	2	738	c.590G>C	c.(589-591)AGT>ACT	p.S197T	HOMEZ_uc001wjb.2_Missense_Mutation_p.S199T	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	homeodomain leucine zipper protein	197						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TTTCTGGTGACTCTGTGGCAG	0.502													G	23745847	C	G	23745847	3	3	27	1	0	0	0	0	1	0	0	0	7281	565	20	5	1066	5	HOMEZ	14	23745847	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	215550	23745847	83603693	6074	30025											
HOMEZ	57594	broad.mit.edu	37	chr14	23746167	23746167	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatctgcaacccataacgTaggcagagaagggcaatgtc	10	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:23746167T>C	uc001wja.2	-	2	418	c.270A>G	c.(268-270)CTA>CTG	p.L90L	HOMEZ_uc001wjb.2_Silent_p.L92L	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	homeodomain leucine zipper protein	90	Homeobox 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ACCCATAACGTAGGCAGAGAA	0.502													C	23746167	T	C	23746167	2	2	27	1	0	0	0	0	0	0	0	1	7281	1625	57	3		3	HOMEZ	14	23746167	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	320	23746167	83603373	6075	30026											
MYH6	4624	broad.mit.edu	37	chr14	23855309	23855309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcaggtcgtcgttggcaCggaccgcatcgtccagctgg	13	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:23855309C>T	uc001wjv.2	-	34	5058	c.4991G>A	c.(4990-4992)CGT>CAT	p.R1664H		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1664	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GTCGTTGGCACGGACCGCATC	0.627													T	23855309	C	T	23855309	3	4	27	1	0	0	0	0	1	0	0	0	10038	536	19	1	852	1	MYH6	14	23855309	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	109142	23855309	83494231	6076	30027											
MYH6	4624	broad.mit.edu	37	chr14	23858074	23858074	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatctggagctcacttggccTcttcgagctcctcagtccgc	9	15	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:23858074T>C	uc001wjv.2	-	29	4236	c.4169A>G	c.(4168-4170)GAG>GGG	p.E1390G	uc010tnn.1_5'Flank|MIR208A_hsa-mir-208a|MI0000251_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1390	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCACTTGGCCTCTTCGAGCTC	0.612													C	23858074	T	C	23858074	3	2	27	1	0	0	0	0	1	0	0	0	10038	1551	54	3	1694	3	MYH6	14	23858074	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2765	23858074	83491466	6077	30028											
MYH6	4624	broad.mit.edu	37	chr14	23868101	23868101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggatcagggagaagtggGcttcctgcttccccttgatg	14	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:23868101G>A	uc001wjv.2	-	15	1794	c.1727C>T	c.(1726-1728)GCC>GTC	p.A576V		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	576	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGAGAAGTGGGCTTCCTGCTT	0.542													A	23868101	G	A	23868101	3	1	27	1	0	0	0	0	1	0	0	0	10038	1203	42	2	4192	2	MYH6	14	23868101	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	10027	23868101	83481439	6078	30029											
LRRC16B	90668	broad.mit.edu	37	chr14	24538373	24538373	+	Frame_Shift_Del	DEL	C	C	-													tgatccaggccggcggactgCccccctgaagcccaagagga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:24538372_24538372GC>G	uc001wlj.2	+	38	4166	c.4009_4009GC>G	c.(4009-4011)gccfs	p.A1337fs	LRRC16B_uc001wlk.2_Frame_Shift_Del_p.A390fs|CPNE6_uc010tnv.2_5'Flank|CPNE6_uc001wlm.3_5'Flank|CPNE6_uc001wll.3_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	1337										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCGGCGGACTGCCCCCCTGAA	0.617													-	24538373	C	-	24538373	7	5	27	1	0	1	0	1	0	0	0	0	8972	739	26	0	4164	0	LRRC16B	14	24538373	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	670272	24538373	82811167	6079	30030											
PCK2	5106	broad.mit.edu	37	chr14	24569212	24569212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcctaacaggtcgactcCgggccatcaaccctgagaac	8	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:24569212C>T	uc001wlt.2	+	7	1156	c.1024C>T	c.(1024-1026)CGG>TGG	p.R342W	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Missense_Mutation_p.R354W|PCK2_uc001wls.2_Missense_Mutation_p.R342W|PCK2_uc010tnw.1_Missense_Mutation_p.R208W|PCK2_uc010ald.2_Missense_Mutation_p.P285L|PCK2_uc010ale.2_3'UTR|PCK2_uc010tnx.1_Missense_Mutation_p.R208W|PCK2_uc001wlu.3_Missense_Mutation_p.R208W	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	342					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)		AGGTCGACTCCGGGCCATCAA	0.517													T	24569212	C	T	24569212	3	4	27	1	0	0	0	0	1	0	0	0	11582	643	23	1	1050	1	PCK2	14	24569212	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	30839	24569212	82780328	6080	30031											
FITM1	161247	broad.mit.edu	37	chr14	24600921	24600921	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcccgccttctgggcagccCctgcttacggcgcctctacc	10	20	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:24600921C>A	uc001wmf.2	+	1	247	c.149C>A	c.(148-150)CCC>CAC	p.P50H		NM_203402	NP_981947	A5D6W6	FITM1_HUMAN	fat-inducing transcript 1	50	Extracellular (Potential).				lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane					0						CTGGGCAGCCCCTGCTTACGG	0.627													A	24600921	C	A	24600921	3	1	27	1	0	0	0	0	1	0	0	0	5898	623	22	5	151	5	FITM1	14	24600921	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	31709	24600921	82748619	6081	30032											
IRF9	10379	broad.mit.edu	37	chr14	24632717	24632717	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggactccctcaataaTgtaagagatggagagggaac	11	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:24632717T>C	uc001wmq.2	+	4	622	c.495T>C	c.(493-495)AAT>AAC	p.N165N	RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_Silent_p.N63N	NM_006084	NP_006075	Q00978	IRF9_HUMAN	interferon-stimulated transcription factor 3,	165					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00853)		CCCTCAATAATGTAAGAGATG	0.502													C	24632717	T	C	24632717	2	2	27	1	0	0	0	0	0	0	0	1	7837	1478	51	3		3	IRF9	14	24632717	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	31796	24632717	82716823	6082	30033											
TM9SF1	10548	broad.mit.edu	37	chr14	24661917	24661917	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagagcagaccacggtatgGggggaagcggaagacatctg	16	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:24661917G>T	uc001wnb.1	-	3	1252	c.904C>A	c.(904-906)CCA>ACA	p.P302T	IPO4_uc001wmx.1_5'Flank|IPO4_uc001wmy.1_5'Flank|IPO4_uc010tnz.1_5'Flank|IPO4_uc001wmw.1_5'Flank|IPO4_uc001wmz.1_5'Flank|TM9SF1_uc010toa.1_Missense_Mutation_p.P215T|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Missense_Mutation_p.P537T|TM9SF1_uc001wnc.2_Missense_Mutation_p.P302T|TM9SF1_uc001wnd.2_Missense_Mutation_p.P158T	NM_006405	NP_006396	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1 isoform a	302					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0183)		CCACGGTATGGGGGGAAGCGG	0.512													T	24661917	G	T	24661917	3	4	27	1	0	0	0	0	1	0	0	0	15974	1232	43	5	975	5	TM9SF1	14	24661917	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	29200	24661917	82687623	6083	30034											
TSSK4	283629	broad.mit.edu	37	chr14	24676590	24676590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacacctggagcatgggcGtcatcctttacactctagtg	10	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:24676590G>A	uc001wng.2	+	3	847	c.679G>A	c.(679-681)GTC>ATC	p.V227I	TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.2_Missense_Mutation_p.V151I|TSSK4_uc001wnf.2_Missense_Mutation_p.V157I|TSSK4_uc001wnh.2_Missense_Mutation_p.V237I	NM_174944	NP_777604	Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	227	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity				0				GBM - Glioblastoma multiforme(265;0.018)		GAGCATGGGCGTCATCCTTTA	0.517													A	24676590	G	A	24676590	3	1	27	1	0	0	0	0	1	0	0	0	16668	1145	40	1	719	1	TSSK4	14	24676590	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	14673	24676590	82672950	6084	30035											
GMPR2	51292	broad.mit.edu	37	chr14	24705334	24705334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacggaagcgcttcccccaGcacaccatcatggtatgttt	9	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:24705334G>A	uc001wnr.2	+	5	835	c.453G>A	c.(451-453)CAG>CAA	p.Q151Q	GMPR2_uc001wnv.2_5'UTR|GMPR2_uc001wns.2_Silent_p.Q151Q|GMPR2_uc001wnt.2_Intron|GMPR2_uc001wnu.2_Silent_p.Q115Q|GMPR2_uc001wnw.2_Silent_p.Q151Q|GMPR2_uc010all.2_Silent_p.Q123Q|GMPR2_uc001wnx.2_Silent_p.Q169Q|GMPR2_uc010tod.1_Intron|GMPR2_uc010alk.1_Silent_p.Q151Q|GMPR2_uc010toe.1_Silent_p.Q151Q	NM_001002001	NP_001002001	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2 isoform 2	151					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			ovary(3)	3				GBM - Glioblastoma multiforme(265;0.0181)		GCTTCCCCCAGCACACCATCA	0.443													A	24705334	G	A	24705334	2	1	27	1	0	0	0	0	0	0	0	1	6497	962	34	2		2	GMPR2	14	24705334	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	28744	24705334	82644206	6085	30036											
TINF2	26277	broad.mit.edu	37	chr14	24710024	24710024	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgctagtctttgttgcTgaggaggattctgttccatg	14	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:24710024T>C	uc001woa.3	-	6	1004	c.662A>G	c.(661-663)CAG>CGG	p.Q221R	TINF2_uc010alm.2_Missense_Mutation_p.Q45R|TINF2_uc001wob.3_Missense_Mutation_p.Q221R|TINF2_uc010tof.1_Missense_Mutation_p.Q186R|TINF2_uc001woc.3_3'UTR	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	221					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|protein binding|telomeric DNA binding				0				GBM - Glioblastoma multiforme(265;0.0185)		TCTTTGTTGCTGAGGAGGATT	0.493									Ataxia_Pancytopenia_syndrome|Congenital_Dyskeratosis				C	24710024	T	C	24710024	3	2	27	1	0	0	0	0	1	0	0	0	15920	1580	55	3	713	3	TINF2	14	24710024	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4690	24710024	82639516	6086	30037											
RIPK3	11035	broad.mit.edu	37	chr14	24808444	24808444	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcttgggatcttggtcccagTtcaccttctcgataacccct	8	14	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:24808444T>A	uc001wpb.2	-	3	458	c.248A>T	c.(247-249)AAC>ATC	p.N83I	RIPK3_uc001wpa.2_5'Flank|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_5'UTR|RIPK3_uc010toj.1_Missense_Mutation_p.N83I	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	83	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			central_nervous_system(2)|ovary(1)|lung(1)	4				GBM - Glioblastoma multiforme(265;0.0181)		TTGGTCCCAGTTCACCTTCTC	0.587													A	24808444	T	A	24808444	3	1	27	1	0	0	0	0	1	0	0	0	13382	1725	60	5	1340	5	RIPK3	14	24808444	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	98420	24808444	82541096	6087	30038											
NFATC4	4776	broad.mit.edu	37	chr14	24839280	24839280	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggcctcccctcggccatggAcccccgaagatccctggagc	12	18	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:24839280A>T	uc001wpc.2	+	2	997	c.676A>T	c.(676-678)ACC>TCC	p.T226S	NFATC4_uc010tok.1_Missense_Mutation_p.T289S|NFATC4_uc010tol.1_Missense_Mutation_p.T289S|NFATC4_uc010alr.2_Missense_Mutation_p.T289S|NFATC4_uc010als.2_Missense_Mutation_p.T239S|NFATC4_uc010tom.1_Missense_Mutation_p.T239S|NFATC4_uc010ton.1_Missense_Mutation_p.T239S|NFATC4_uc010too.1_Missense_Mutation_p.T239S|NFATC4_uc010alt.2_Missense_Mutation_p.T258S|NFATC4_uc010top.1_Missense_Mutation_p.T258S|NFATC4_uc010toq.1_Missense_Mutation_p.T258S|NFATC4_uc010alu.2_Intron|NFATC4_uc010tor.1_Missense_Mutation_p.T226S|NFATC4_uc010tos.1_Missense_Mutation_p.T156S|NFATC4_uc010tot.1_Missense_Mutation_p.T214S|NFATC4_uc010tou.1_Missense_Mutation_p.T156S|NFATC4_uc010tov.1_Missense_Mutation_p.T214S|NFATC4_uc010tow.1_Missense_Mutation_p.T156S|NFATC4_uc010alv.2_Missense_Mutation_p.T214S|NFATC4_uc010tox.1_Missense_Mutation_p.T156S|NFATC4_uc001wpd.2_5'Flank|NFATC4_uc010toy.1_5'Flank|NFATC4_uc010toz.1_5'Flank	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	226	SP 1.|Pro-rich.|2 approximate SP repeats.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		TCGGCCATGGACCCCCGAAGA	0.697													T	24839280	A	T	24839280	3	4	27	1	0	0	0	0	1	0	0	0	10365	275	10	5	875	5	NFATC4	14	24839280	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	30836	24839280	82510260	6088	30039											
CTSG	1511	broad.mit.edu	37	chr14	25043002	25043002	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattgttacacagcaggggGcctccggaatccccctgtag	11	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:25043002G>A	uc001wpq.2	-	5	646	c.609C>T	c.(607-609)GGC>GGT	p.G203G		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	203	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2				GBM - Glioblastoma multiforme(265;0.0269)		ACAGCAGGGGGCCTCCGGAAT	0.602													A	25043002	G	A	25043002	2	1	27	1	0	0	0	0	0	0	0	1	4035	1190	42	2		2	CTSG	14	25043002	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	203722	25043002	82306538	6089	30040											
CTSG	1511	broad.mit.edu	37	chr14	25043577	25043577	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcacctctcggagtgtatcTgttcccctcctcatgctgac	8	15	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:25043577T>C	uc001wpq.2	-	4	505	c.468A>G	c.(466-468)ACA>ACG	p.T156T		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	156	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2				GBM - Glioblastoma multiforme(265;0.0269)		GGAGTGTATCTGTTCCCCTCC	0.632													C	25043577	T	C	25043577	2	2	27	1	0	0	0	0	0	0	0	1	4035	1567	55	3		3	CTSG	14	25043577	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	575	25043577	82305963	6090	30041											
CTSG	1511	broad.mit.edu	37	chr14	25044505	25044505	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agctgctgtcagcacaaagtCttctcgcaccaggaaccctc	8	15	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:25044505C>T	uc001wpq.2	-	2	206	c.169G>A	c.(169-171)GAC>AAC	p.D57N		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	57	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2				GBM - Glioblastoma multiforme(265;0.0269)		AGCACAAAGTCTTCTCGCACC	0.602													T	25044505	C	T	25044505	3	4	27	1	0	0	0	0	1	0	0	0	4035	913	32	4	614	4	CTSG	14	25044505	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	928	25044505	82305035	6091	30042											
NOVA1	4857	broad.mit.edu	37	chr14	26918159	26918159	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtgctgttgggaactAtaatctttacctgtaattaa	8	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:26918159A>G	uc001wpy.2	-	5	848	c.530T>C	c.(529-531)ATA>ACA	p.I177T	NOVA1_uc001wpz.2_Missense_Mutation_p.I153T|NOVA1_uc001wqa.2_Missense_Mutation_p.I55T	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	180	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5				GBM - Glioblastoma multiforme(265;0.0135)		GTTGGGAACTATAATCTTTAC	0.363													G	26918159	A	G	26918159	3	3	27	1	0	0	0	0	1	0	0	0	10554	449	16	3	997	3	NOVA1	14	26918159	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1873654	26918159	80431381	6092	30043											
PRKD1	5587	broad.mit.edu	37	chr14	30068262	30068262	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggatcagctgaggctagcaAcacattttctggtttgaggt	12	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:30068262A>G	uc001wqh.2	-	15	2318	c.2137T>C	c.(2137-2139)TTG>CTG	p.L713L		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	713	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GAGGCTAGCAACACATTTTCT	0.418													G	30068262	A	G	30068262	2	3	27	1	0	0	0	0	0	0	0	1	12518	40	2	3		3	PRKD1	14	30068262	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3150103	30068262	77281278	6093	30044											
G2E3	55632	broad.mit.edu	37	chr14	31050312	31050312	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtaaacctggtgactcAcagaaccttggtaagtaact	9	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:31050312A>G	uc001wqk.2	+	2	181	c.27A>G	c.(25-27)TCA>TCG	p.S9S	G2E3_uc010tpe.1_Intron|G2E3_uc010tpf.1_Intron	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	9					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						CTGGTGACTCACAGAACCTTG	0.274													G	31050312	A	G	31050312	2	3	27	1	0	0	0	0	0	0	0	1	6140	146	6	3		3	G2E3	14	31050312	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	982050	31050312	76299228	6094	30045											
G2E3	55632	broad.mit.edu	37	chr14	31071242	31071242	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaacatgtattacccaaTtctaataatgtggggattac	6	6	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:31071242T>A	uc001wqk.2	+	10	1069	c.915T>A	c.(913-915)AAT>AAA	p.N305K	G2E3_uc010tpe.1_Missense_Mutation_p.N220K|G2E3_uc010tpf.1_Missense_Mutation_p.N259K	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	305					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						TATTACCCAATTCTAATAATG	0.338													A	31071242	T	A	31071242	3	1	27	1	0	0	0	0	1	0	0	0	6140	1490	52	5	949	5	G2E3	14	31071242	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	20930	31071242	76278298	6095	30046											
SCFD1	23256	broad.mit.edu	37	chr14	31191743	31191743	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcaactacattgaatatcAgaatcttgttgactacataa	6	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:31191743A>G	uc001wqm.1	+	23	1838	c.1814A>G	c.(1813-1815)CAG>CGG	p.Q605R	SCFD1_uc001wqn.1_Missense_Mutation_p.Q538R|SCFD1_uc010tpg.1_Missense_Mutation_p.Q546R|SCFD1_uc010tph.1_Missense_Mutation_p.Q420R|SCFD1_uc010amf.1_Missense_Mutation_p.Q420R|SCFD1_uc010tpi.1_Missense_Mutation_p.Q513R|SCFD1_uc010ame.1_Missense_Mutation_p.R527G	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	vesicle transport-related protein isoform a	605					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding				0	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		ATTGAATATCAGAATCTTGTT	0.338													G	31191743	A	G	31191743	3	3	27	1	0	0	0	0	1	0	0	0	13889	188	7	3	1904	3	SCFD1	14	31191743	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	120501	31191743	76157797	6096	30047											
HEATR5A	25938	broad.mit.edu	37	chr14	31856444	31856444	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ataaatgaaacacaacggcgAcagcagacggcatcgatctg	10	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:31856444A>T	uc001wrf.3	-	2	269	c.192T>A	c.(190-192)TGT>TGA	p.C64*	HEATR5A_uc010ami.2_5'UTR|HEATR5A_uc001wrg.1_5'UTR|HEATR5A_uc010tpk.1_Nonsense_Mutation_p.C357*	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	351							binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CACAACGGCGACAGCAGACGG	0.463													T	31856444	A	T	31856444	4	4	27	1	0	0	0	0	0	1	0	0	7031	273	10	5	5185	5	HEATR5A	14	31856444	Nonsense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	664701	31856444	75493096	6097	30048											
ARHGAP5	394	broad.mit.edu	37	chr14	32561822	32561822	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tactttttgagtcagttatgGactgccgcctttaaaccaca	7	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:32561822G>A	uc001wrl.2	+	2	2186	c.1947G>A	c.(1945-1947)TGG>TGA	p.W649*	ARHGAP5_uc001wrm.2_Nonsense_Mutation_p.W649*|ARHGAP5_uc001wrn.2_Nonsense_Mutation_p.W649*|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	649					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GTCAGTTATGGACTGCCGCCT	0.388													A	32561822	G	A	32561822	4	1	27	1	0	0	0	0	0	1	0	0	886	1183	41	4	1949	4	ARHGAP5	14	32561822	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	705378	32561822	74787718	6098	30049											
ARHGAP5	394	broad.mit.edu	37	chr14	32562224	32562224	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttgagaattgtcatgtgCgccatgtgtggagatccatt	12	7	1	2	rs61737878	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:32562224C>T	uc001wrl.2	+	2	2588	c.2349C>T	c.(2347-2349)TGC>TGT	p.C783C	ARHGAP5_uc001wrm.2_Silent_p.C783C|ARHGAP5_uc001wrn.2_Silent_p.C783C|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	783					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTGTCATGTGCGCCATGTGTG	0.423													T	32562224	C	T	32562224	2	4	27	1	0	0	0	0	0	0	0	1	886	776	27	1		1	ARHGAP5	14	32562224	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	402	32562224	74787316	6099	30050											
ARHGAP5	394	broad.mit.edu	37	chr14	32562668	32562668	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcggcaaactgaggtcttTactctgttttttagtgatgt	9	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:32562668T>C	uc001wrl.2	+	2	3032	c.2793T>C	c.(2791-2793)TTT>TTC	p.F931F	ARHGAP5_uc001wrm.2_Silent_p.F931F|ARHGAP5_uc001wrn.2_Silent_p.F931F|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	931					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTGAGGTCTTTACTCTGTTTT	0.328													C	32562668	T	C	32562668	2	2	27	1	0	0	0	0	0	0	0	1	886	1751	61	3		3	ARHGAP5	14	32562668	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	444	32562668	74786872	6100	30051											
AKAP6	9472	broad.mit.edu	37	chr14	33069996	33069997	+	Frame_Shift_Ins	INS	-	-	A													ggaagggactggaagccccaINSaggtaagtggcttgaagttt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:33069995_33069996C>CA	uc001wrq.3	+	6	2897_2898	c.2727_2728C>CA	c.(2725-2730)cccaagfs	p.P909fs	AKAP6_uc010aml.3_Frame_Shift_Ins_p.P906fs	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	909					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.K910M(2)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGGAAGCCCCAAGGTAAGTGG	0.465													A	33069997	-	A	33069996	7	5	27	1	0	1	1	0	0	0	0	0	455	131	5	0	2750	0	AKAP6	14	33069996	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	507328	33069996	74279544	6101	30052											
AKAP6	9472	broad.mit.edu	37	chr14	33290606	33290606	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttttctttctctcacacAggagactttgaatgtgattg	7	8	4	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:33290606A>G	uc001wrq.2	+	13	3759	c.3589_splice	c.e13-2	p.E1197_splice		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6						protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCTCTCACACAGGAGACTTTG	0.383													G	33290606	A	G	33290606	5	3	27	1	0	0	0	0	0	0	1	0	455	202	7	3	3633	3	AKAP6	14	33290606	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	220610	33290606	74058934	6102	30053											
BAZ1A	11177	broad.mit.edu	37	chr14	35264961	35264961	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcttttcttcacgtaacTtctctctttcctagaaattt	3	11	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:35264961T>C	uc001wsk.2	-	10	1707	c.1139A>G	c.(1138-1140)AAG>AGG	p.K380R	BAZ1A_uc001wsl.2_Missense_Mutation_p.K380R	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	380	Potential.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTCACGTAACTTCTCTCTTTC	0.229													C	35264961	T	C	35264961	3	2	27	1	0	0	0	0	1	0	0	0	1329	1609	56	3	3603	3	BAZ1A	14	35264961	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1974355	35264961	72084579	6103	30054											
SRP54	6729	broad.mit.edu	37	chr14	35487907	35487907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtatttcaggtcagtttaCgttgcgagacatgtatgagc	11	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:35487907C>T	uc001wso.2	+	12	1334	c.983C>T	c.(982-984)ACG>ATG	p.T328M	SRP54_uc010tpp.1_Missense_Mutation_p.T279M|SRP54_uc010tpq.1_Missense_Mutation_p.T264M	NM_003136	NP_003127	P61011	SRP54_HUMAN	signal recognition particle 54kDa isoform 1	328	M-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			ovary(1)	1	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		GGTCAGTTTACGTTGCGAGAC	0.299													T	35487907	C	T	35487907	3	4	27	1	0	0	0	0	1	0	0	0	15154	536	19	1	1025	1	SRP54	14	35487907	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	222946	35487907	71861633	6104	30055											
SRP54	6729	broad.mit.edu	37	chr14	35488186	35488186	+	Frame_Shift_Del	DEL	T	T	-													ttgtaggggatgatccctggTtttgggacagattttatgag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:35488185_35488185GT>G	uc001wso.3	+	12	1412	c.1061_1061GT>G	c.(1060-1062)ggtfs	p.G354fs	SRP54_uc010tpp.2_Frame_Shift_Del_p.G305fs|SRP54_uc010tpq.2_Frame_Shift_Del_p.G290fs	NM_003136	NP_003127	P61011	SRP54_HUMAN	Homo sapiens signal recognition particle 54kDa (SRP54), transcript variant 1, mRNA.	354	M-domain.				GTP catabolic process|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation|response to drug	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|GDP binding|GTP binding|drug binding|endoplasmic reticulum signal peptide binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		ATGATCCCTGGTTTTGGGACA	0.328													-	35488186	T	-	35488186	7	5	27	1	0	1	0	1	0	0	0	0	15154	1712	60	0	1108	0	SRP54	14	35488186	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	279	35488186	71861354	6105	30056											
PSMA6	5687	broad.mit.edu	37	chr14	35780027	35780027	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctatgagattcctgtggAcatgctgtgtaaaagaattg	12	5	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:35780027A>G	uc001wtd.2	+	4	444	c.335A>G	c.(334-336)GAC>GGC	p.D112G	KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Missense_Mutation_p.D33G|PSMA6_uc010tpu.1_Missense_Mutation_p.D33G	NM_002791	NP_002782	P60900	PSA6_HUMAN	proteasome alpha 6 subunit	112					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity				0	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		ATTCCTGTGGACATGCTGTGT	0.433													G	35780027	A	G	35780027	3	3	27	1	0	0	0	0	1	0	0	0	12671	275	10	3	349	3	PSMA6	14	35780027	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	291841	35780027	71569513	6106	30057											
PSMA6	5687	broad.mit.edu	37	chr14	35780041	35780041	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggacatgctgtgtaaaAgaattgccgatatttctcag	10	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:35780041A>G	uc001wtd.2	+	4	458	c.349A>G	c.(349-351)AGA>GGA	p.R117G	KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Missense_Mutation_p.R38G|PSMA6_uc010tpu.1_Missense_Mutation_p.R38G	NM_002791	NP_002782	P60900	PSA6_HUMAN	proteasome alpha 6 subunit	117					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity				0	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		GCTGTGTAAAAGAATTGCCGA	0.433													G	35780041	A	G	35780041	3	3	27	1	0	0	0	0	1	0	0	0	12671	64	3	3	363	3	PSMA6	14	35780041	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	14	35780041	71569499	6107	30058											
INSM2	84684	broad.mit.edu	37	chr14	36004685	36004685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggagggggtgttggggcgCcgggtacctgtgccgggcag	22	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:36004685C>T	uc001wth.1	+	1	1438	c.1227C>T	c.(1225-1227)CGC>CGT	p.R409R		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		TGTTGGGGCGCCGGGTACCTG	0.647													T	36004685	C	T	36004685	2	4	27	1	0	0	0	0	0	0	0	1	7772	726	26	2		2	INSM2	14	36004685	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	224644	36004685	71344855	6108	30059											
RALGAPA1	253959	broad.mit.edu	37	chr14	36143454	36143454	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagaaggggaggtcaggtTatcagttgaaatgccaaggt	16	4	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:36143454T>C	uc001wti.2	-	23	3722	c.3331A>G	c.(3331-3333)AAC>GAC	p.N1111D	RALGAPA1_uc010amp.2_5'Flank|RALGAPA1_uc001wtj.2_Missense_Mutation_p.N1111D|RALGAPA1_uc010tpv.1_Missense_Mutation_p.N1124D|RALGAPA1_uc010tpw.1_Missense_Mutation_p.N1158D	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	1111					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						GAGGTCAGGTTATCAGTTGAA	0.318													C	36143454	T	C	36143454	3	2	27	1	0	0	0	0	1	0	0	0	13013	1754	61	3	3004	3	RALGAPA1	14	36143454	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	138769	36143454	71206086	6109	30060											
RALGAPA1	253959	broad.mit.edu	37	chr14	36221254	36221254	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tataggatgatataaactgtTttccttacagatgtttggaa	8	4	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:36221254T>C	uc001wti.2	-	8	1169	c.778A>G	c.(778-780)AAC>GAC	p.N260D	RALGAPA1_uc001wtj.2_Missense_Mutation_p.N260D|RALGAPA1_uc010tpv.1_Missense_Mutation_p.N260D|RALGAPA1_uc010tpw.1_Missense_Mutation_p.N260D|RALGAPA1_uc001wtk.1_Missense_Mutation_p.N111D	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	260					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						TATAAACTGTTTTCCTTACAG	0.284													C	36221254	T	C	36221254	3	2	27	1	0	0	0	0	1	0	0	0	13013	1841	64	3	5617	3	RALGAPA1	14	36221254	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	77800	36221254	71128286	6110	30061											
MBIP	51562	broad.mit.edu	37	chr14	36784000	36784000	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcttttcttcctcttgtAggtcgccaatggaaaatttg	9	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:36784000A>G	uc001wtm.2	-	3	459	c.371T>C	c.(370-372)CTA>CCA	p.L124P	MBIP_uc001wto.2_Missense_Mutation_p.L124P|MBIP_uc010tpy.1_Missense_Mutation_p.Y9H|MBIP_uc001wtn.2_Missense_Mutation_p.L124P	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1 isoform 1	124					histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity				0	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		TTCCTCTTGTAGGTCGCCAAT	0.368													G	36784000	A	G	36784000	3	3	27	1	0	0	0	0	1	0	0	0	9349	420	15	3	691	3	MBIP	14	36784000	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	562746	36784000	70565540	6111	30062											
PAX9	5083	broad.mit.edu	37	chr14	37132275	37132275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaagatcctggcgcgaTacaacgagacgggctcgatc	12	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:37132275T>C	uc001wty.3	+	3	895	c.178T>C	c.(178-180)TAC>CAC	p.Y60H	PAX9_uc010amq.2_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	60	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CCTGGCGCGATACAACGAGAC	0.637													C	37132275	T	C	37132275	3	2	27	1	0	0	0	0	1	0	0	0	11486	1406	49	3	184	3	PAX9	14	37132275	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	348275	37132275	70217265	6112	30063											
PAX9	5083	broad.mit.edu	37	chr14	37132666	37132666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggttcggtggccatgccgcGcacctggccctcctcgcact	12	18	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:37132666G>A	uc001wty.3	+	3	1286	c.569G>A	c.(568-570)CGC>CAC	p.R190H	PAX9_uc010amq.2_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	190					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GCCATGCCGCGCACCTGGCCC	0.687													A	37132666	G	A	37132666	3	1	27	1	0	0	0	0	1	0	0	0	11486	1087	38	1	575	1	PAX9	14	37132666	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	391	37132666	70216874	6113	30064											
SLC25A21	89874	broad.mit.edu	37	chr14	37180557	37180557	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtttttgacattgtagTagaagccaaaataaaccatg	7	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:37180557T>C	uc001wtz.1	-	7	879	c.569A>G	c.(568-570)TAC>TGC	p.Y190C		NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial	190	Solcar 2.				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			skin(1)	1	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		GACATTGTAGTAGAAGCCAAA	0.343													C	37180557	T	C	37180557	3	2	27	1	0	0	0	0	1	0	0	0	14484	1638	57	3	351	3	SLC25A21	14	37180557	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	47891	37180557	70168983	6114	30065											
SLC25A21	89874	broad.mit.edu	37	chr14	37194876	37194876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcccaatccagcaatggCgaatgtctagaaaaattaaa	7	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:37194876C>T	uc001wtz.1	-	6	647	c.337G>A	c.(337-339)GCC>ACC	p.A113T		NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial	113	Solcar 2.|Helical; Name=3; (Potential).				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			skin(1)	1	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		CCAGCAATGGCGAATGTCTAG	0.363													T	37194876	C	T	37194876	3	4	27	1	0	0	0	0	1	0	0	0	14484	768	27	1	587	1	SLC25A21	14	37194876	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	14319	37194876	70154664	6115	30066											
MIPOL1	145282	broad.mit.edu	37	chr14	37892127	37892127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacaaaaaactggaagaggAaatccagacccttcgagttt	9	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:37892127A>G	uc001wuc.2	+	12	1507	c.1004A>G	c.(1003-1005)GAA>GGA	p.E335G	MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.E304G|MIPOL1_uc001wud.2_Missense_Mutation_p.E335G|MIPOL1_uc010ams.2_Missense_Mutation_p.E335G|MIPOL1_uc001wue.2_Missense_Mutation_p.E304G|MIPOL1_uc010amt.2_Missense_Mutation_p.E154G	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	335	Potential.									ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		CTGGAAGAGGAAATCCAGACC	0.323													G	37892127	A	G	37892127	3	3	27	1	0	0	0	0	1	0	0	0	9593	246	9	3	1038	3	MIPOL1	14	37892127	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	697251	37892127	69457413	6116	30067											
MIPOL1	145282	broad.mit.edu	37	chr14	37969207	37969207	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttaaaaaacagagagaacAttgtttccatcactcaacaa	4	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:37969207A>G	uc001wuc.2	+	13	1629	c.1126A>G	c.(1126-1128)ATT>GTT	p.I376V	MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.I345V|MIPOL1_uc001wud.2_Missense_Mutation_p.I376V|MIPOL1_uc010ams.2_Missense_Mutation_p.I376V|MIPOL1_uc001wue.2_Missense_Mutation_p.I345V|MIPOL1_uc010amt.2_Missense_Mutation_p.I195V	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	376	Potential.									ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		CAGAGAGAACATTGTTTCCAT	0.363													G	37969207	A	G	37969207	3	3	27	1	0	0	0	0	1	0	0	0	9593	217	8	3	1164	3	MIPOL1	14	37969207	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	77080	37969207	69380333	6117	30068											
CLEC14A	161198	broad.mit.edu	37	chr14	38724773	38724773	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccttccagcctgcgggctcgAccccaccggtggcctggagt	13	17	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:38724773A>T	uc001wum.1	-	1	802	c.455T>A	c.(454-456)GTC>GAC	p.V152D		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	152	Extracellular (Potential).|C-type lectin.					integral to membrane	sugar binding			ovary(3)|skin(1)	4	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TGCGGGCTCGACCCCACCGGT	0.617													T	38724773	A	T	38724773	3	4	27	1	0	0	0	0	1	0	0	0	3499	275	10	5	1021	5	CLEC14A	14	38724773	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	755566	38724773	68624767	6118	30069											
CTAGE5	4253	broad.mit.edu	37	chr14	39771359	39771359	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actgaacgcttgttaaagatGaaagattgggctgctatgct	11	6	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:39771359G>A	uc001wvg.3	+	10	1158	c.822G>A	c.(820-822)ATG>ATA	p.M274I	CTAGE5_uc010tqe.1_Missense_Mutation_p.M236I|CTAGE5_uc001wuz.3_Missense_Mutation_p.M262I|CTAGE5_uc001wuy.3_Missense_Mutation_p.M194I|CTAGE5_uc001wvb.3_Missense_Mutation_p.M245I|CTAGE5_uc001wvc.3_Missense_Mutation_p.M219I|CTAGE5_uc001wva.3_Missense_Mutation_p.M245I|CTAGE5_uc001wve.1_Missense_Mutation_p.M250I|CTAGE5_uc001wvh.3_Missense_Mutation_p.M274I|CTAGE5_uc001wvf.3_Missense_Mutation_p.M199I|CTAGE5_uc001wvi.3_Missense_Mutation_p.M279I|CTAGE5_uc010amz.2_5'UTR|CTAGE5_uc001wvj.3_Missense_Mutation_p.M245I	NM_005930	NP_005921	O15320	CTGE5_HUMAN	CTAGE family, member 5 isoform 1	274							enzyme activator activity|protein binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TGTTAAAGATGAAAGATTGGG	0.378													A	39771359	G	A	39771359	3	1	27	1	0	0	0	0	1	0	0	0	3994	1290	45	4	891	4	CTAGE5	14	39771359	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1046586	39771359	67578181	6119	30070											
FBXO33	254170	broad.mit.edu	37	chr14	39871660	39871660	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtatgtatttgacaaacTtccttgctgttgtagaacac	9	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:39871660T>G	uc001wvk.2	-	2	993	c.655A>C	c.(655-657)AGT>CGT	p.S219R		NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	F-box protein 33	219											0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TTTGACAAACTTCCTTGCTGT	0.308													G	39871660	T	G	39871660	3	3	27	1	0	0	0	0	1	0	0	0	5743	1609	56	5	1024	5	FBXO33	14	39871660	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	100301	39871660	67477880	6120	30071											
FSCB	84075	broad.mit.edu	37	chr14	44975832	44975832	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagttgaactgaaggtatgTttggtggaatttctacatcc	10	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:44975832T>C	uc001wvn.2	-	1	668	c.359A>G	c.(358-360)AAC>AGC	p.N120S		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	120						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		TGAAGGTATGTTTGGTGGAAT	0.438													C	44975832	T	C	44975832	3	2	27	1	0	0	0	0	1	0	0	0	6066	1725	60	3	2122	3	FSCB	14	44975832	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	5104172	44975832	62373708	6121	30072											
KLHL28	54813	broad.mit.edu	37	chr14	45398323	45398323	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggatcatatttctgcactgTattcagataggaagaccctg	9	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:45398323T>C	uc001wvq.2	-	5	1870	c.1624A>G	c.(1624-1626)ACA>GCA	p.T542A	KLHL28_uc001wvr.2_Missense_Mutation_p.T542A	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	542	Kelch 6.									ovary(1)	1						TTCTGCACTGTATTCAGATAG	0.438													C	45398323	T	C	45398323	3	2	27	1	0	0	0	0	1	0	0	0	8382	1638	57	3	95	3	KLHL28	14	45398323	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	422491	45398323	61951217	6122	30073											
FAM179B	23116	broad.mit.edu	37	chr14	45432481	45432481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttcaacaaattggggagcGacttggccaagacaggtttc	11	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:45432481G>A	uc001wvv.2	+	1	1066	c.857G>A	c.(856-858)CGA>CAA	p.R286Q	FAM179B_uc001wvw.2_Missense_Mutation_p.R286Q|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.R286Q|FAM179B_uc001wvu.2_Missense_Mutation_p.R286Q	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	286							binding			skin(2)|upper_aerodigestive_tract(1)	3						ATTGGGGAGCGACTTGGCCAA	0.507													A	45432481	G	A	45432481	3	1	27	1	0	0	0	0	1	0	0	0	5506	1058	37	1	859	1	FAM179B	14	45432481	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	34158	45432481	61917059	6123	30074											
FAM179B	23116	broad.mit.edu	37	chr14	45433203	45433203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagatagcaaacgcagggtaCgccaagcagctttagaagct	11	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:45433203C>T	uc001wvv.2	+	1	1788	c.1579C>T	c.(1579-1581)CGC>TGC	p.R527C	FAM179B_uc001wvw.2_Missense_Mutation_p.R527C|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.R527C|FAM179B_uc001wvu.2_Missense_Mutation_p.R527C	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	527	HEAT 4.						binding			skin(2)|upper_aerodigestive_tract(1)	3						ACGCAGGGTACGCCAAGCAGC	0.468													T	45433203	C	T	45433203	3	4	27	1	0	0	0	0	1	0	0	0	5506	536	19	1	1581	1	FAM179B	14	45433203	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	722	45433203	61916337	6124	30075											
FANCM	57697	broad.mit.edu	37	chr14	45645393	45645393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgttaatacagagttcgacGatgtgagtctttcacccttg	9	8	2	2	rs142077813		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:45645393G>A	uc001wwd.3	+	14	3535	c.3436G>A	c.(3436-3438)GAT>AAT	p.D1146N	FANCM_uc010anf.2_Missense_Mutation_p.D1120N|FANCM_uc001wwe.3_Missense_Mutation_p.D682N|FANCM_uc010ang.2_Missense_Mutation_p.D360N	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1146					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						AGAGTTCGACGATGTGAGTCT	0.388								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				A	45645393	G	A	45645393	3	1	27	1	0	0	0	0	1	0	0	0	5671	1058	37	1	3490	1	FANCM	14	45645393	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	212190	45645393	61704147	6125	30076											
FANCM	57697	broad.mit.edu	37	chr14	45658140	45658140	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgattgctttgcaaatagtAaaaagtataaaactcgacgt	7	5	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:45658140A>G	uc001wwd.3	+	20	5014	c.4915A>G	c.(4915-4917)AAA>GAA	p.K1639E	FANCM_uc010anf.2_Missense_Mutation_p.K1613E|FANCM_uc001wwe.3_Missense_Mutation_p.K1175E|FANCM_uc010ang.2_Missense_Mutation_p.K853E	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1639					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						TGCAAATAGTAAAAAGTATAA	0.308								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				G	45658140	A	G	45658140	3	3	27	1	0	0	0	0	1	0	0	0	5671	363	13	3	4993	3	FANCM	14	45658140	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	12747	45658140	61691400	6126	30077											
FANCM	57697	broad.mit.edu	37	chr14	45665602	45665602	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttaatggctgtgattacatCgtgagtaatcgcatggtggt	12	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:45665602C>A	uc001wwd.3	+	21	5667	c.5568C>A	c.(5566-5568)ATC>ATA	p.I1856I	FANCM_uc010anf.2_Silent_p.I1830I|FANCM_uc001wwe.3_Silent_p.I1392I|FANCM_uc010ang.2_Silent_p.I1105I	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1856	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						GTGATTACATCGTGAGTAATC	0.408								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				A	45665602	C	A	45665602	2	1	27	1	0	0	0	0	0	0	0	1	5671	874	31	5		5	FANCM	14	45665602	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	7462	45665602	61683938	6127	30078											
FANCM	57697	broad.mit.edu	37	chr14	45665650	45665650	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtctcaatctgagatgttAaatagtgtcaataagaacaa	8	5	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:45665650A>G	uc001wwd.3	+	21	5715	c.5616A>G	c.(5614-5616)TTA>TTG	p.L1872L	FANCM_uc010anf.2_Silent_p.L1846L|FANCM_uc001wwe.3_Silent_p.L1408L|FANCM_uc010ang.2_Silent_p.L1121L	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1872	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						CTGAGATGTTAAATAGTGTCA	0.398								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				G	45665650	A	G	45665650	2	3	27	1	0	0	0	0	0	0	0	1	5671	359	13	3		3	FANCM	14	45665650	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	48	45665650	61683890	6128	30079											
C14orf106	55320	broad.mit.edu	37	chr14	45675336	45675336	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accaccattacttttatgatAtttttgcatacgaaaaacat	3	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:45675336A>T	uc001wwf.2	-	15	3649	c.3190T>A	c.(3190-3192)TAT>AAT	p.Y1064N		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	1064					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						CTTTTATGATATTTTTGCATA	0.249													T	45675336	A	T	45675336	3	4	27	1	0	0	0	0	1	0	0	0	1738	449	16	5	220	5	C14orf106	14	45675336	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	9686	45675336	61674204	6129	30080											
C14orf106	55320	broad.mit.edu	37	chr14	45711609	45711609	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggatttagtggttgcaacTatactctcctttgagtgaaa	9	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:45711609T>C	uc001wwf.2	-	4	1230	c.771A>G	c.(769-771)ATA>ATG	p.I257M	C14orf106_uc010anh.2_RNA	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	257					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						TGGTTGCAACTATACTCTCCT	0.363													C	45711609	T	C	45711609	3	2	27	1	0	0	0	0	1	0	0	0	1738	1512	53	3	2683	3	C14orf106	14	45711609	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	36273	45711609	61637931	6130	30081											
C14orf104	55172	broad.mit.edu	37	chr14	50101028	50101028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtgatcaccagctcatgGggcacggggctcggggctga	17	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:50101028G>A	uc001wws.3	-	1	921	c.840C>T	c.(838-840)CCC>CCT	p.P280P	SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Silent_p.P280P	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN	kintoun isoform 1	280					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm					0	all_epithelial(31;0.0021)|Breast(41;0.0124)					CCAGCTCATGGGGCACGGGGC	0.672									Kartagener_syndrome				A	50101028	G	A	50101028	2	1	27	1	0	0	0	0	0	0	0	1	1736	1219	43	4		4	C14orf104	14	50101028	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4389419	50101028	57248512	6131	30082											
SDCCAG1	9147	broad.mit.edu	37	chr14	50255864	50255864	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccacaaagtagccatacCttgtcatcatgtggatcatc	7	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:50255864C>T	uc001wxc.2	-	28	2963	c.2895G>A	c.(2893-2895)AAG>AAA	p.K965K	SDCCAG1_uc010anj.1_Silent_p.K965K|SDCCAG1_uc001wwz.2_Silent_p.K165K|SDCCAG1_uc001wxa.2_Silent_p.K245K|SDCCAG1_uc010tqi.1_Silent_p.K944K|SDCCAG1_uc001wxe.2_Silent_p.K923K	NM_004713	NP_004704	O60524	NEMF_HUMAN	serologically defined colon cancer antigen 1	965						cytoplasm|nucleus					0	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)		GTAGCCATACCTTGTCATCAT	0.323													T	50255864	C	T	50255864	2	4	27	1	0	0	0	0	0	0	0	1	13957	695	24	4		4	SDCCAG1	14	50255864	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	154836	50255864	57093676	6132	30083											
C14orf183	196913	broad.mit.edu	37	chr14	50550523	50550523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggaagtacccggtgccGtgggcggcacccaccaggca	14	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:50550523G>A	uc010tqk.1	-	5	821	c.821C>T	c.(820-822)ACG>ATG	p.T274M		NM_001014830	NP_001014830	Q8WXQ3	CN183_HUMAN	hypothetical protein LOC196913	274											0						ACCCGGTGCCGTGGGCGGCAC	0.652													A	50550523	G	A	50550523	3	1	27	1	0	0	0	0	1	0	0	0	1766	1145	40	1	156	1	C14orf183	14	50550523	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	294659	50550523	56799017	6133	30084											
SOS2	6655	broad.mit.edu	37	chr14	50647365	50647365	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactctggtgaaagaatgtcCtgtgataatgtttcataagg	10	5	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:50647365C>A	uc001wxs.3	-	7	992	c.894G>T	c.(892-894)CAG>CAT	p.Q298H	SOS2_uc010tql.1_Missense_Mutation_p.Q298H|SOS2_uc001wxt.2_Translation_Start_Site	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	298	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					AAAGAATGTCCTGTGATAATG	0.308													A	50647365	C	A	50647365	3	1	27	1	0	0	0	0	1	0	0	0	14937	680	24	5	3172	5	SOS2	14	50647365	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	96842	50647365	56702175	6134	30085											
MAP4K5	11183	broad.mit.edu	37	chr14	50904618	50904618	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgatattttgtaccttggtAgtattcggtctggaaacctg	10	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:50904618A>G	uc001wya.2	-	24	2137	c.1817T>C	c.(1816-1818)CTA>CCA	p.L606P	MAP4K5_uc001wyb.2_Missense_Mutation_p.L606P	NM_006575	NP_006566	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase	606	CNH.				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(1)	1	all_epithelial(31;0.000415)|Breast(41;0.0102)					GTACCTTGGTAGTATTCGGTC	0.353													G	50904618	A	G	50904618	3	3	27	1	0	0	0	0	1	0	0	0	9263	420	15	3	759	3	MAP4K5	14	50904618	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	257253	50904618	56444922	6135	30086											
NIN	51199	broad.mit.edu	37	chr14	51208418	51208418	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggacatttgcaggtttacaTtctgcacggtgtcttctaaa	10	8	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:51208418T>G	uc001wym.2	-	25	5521	c.5330A>C	c.(5329-5331)AAT>ACT	p.N1777T	NIN_uc001wyi.2_Missense_Mutation_p.N1777T|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.N1064T|NIN_uc010tqp.1_Missense_Mutation_p.N1783T|NIN_uc001wyo.2_Missense_Mutation_p.N1777T|NIN_uc001wyn.2_5'Flank	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1777	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					CAGGTTTACATTCTGCACGGT	0.408			T	PDGFRB	MPD								G	51208418	T	G	51208418	3	3	27	1	0	0	0	0	1	0	0	0	10417	1493	52	5	1247	5	NIN	14	51208418	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	303800	51208418	56141122	6136	30087											
NIN	51199	broad.mit.edu	37	chr14	51210974	51210974	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctactaccttatcgacacagCtatttaattcctcactcaga	3	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:51210974C>A	uc001wym.2	-	23	5365	c.5174G>T	c.(5173-5175)AGC>ATC	p.S1725I	NIN_uc001wyi.2_Missense_Mutation_p.S1725I|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.S1012I|NIN_uc010tqp.1_Missense_Mutation_p.S1731I|NIN_uc001wyo.2_Missense_Mutation_p.S1725I	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1725	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					ATCGACACAGCTATTTAATTC	0.413			T	PDGFRB	MPD								A	51210974	C	A	51210974	3	1	27	1	0	0	0	0	1	0	0	0	10417	797	28	5	1411	5	NIN	14	51210974	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2556	51210974	56138566	6137	30088											
NIN	51199	broad.mit.edu	37	chr14	51237236	51237236	+	Frame_Shift_Del	DEL	T	T	-													ctctctcttttcggagttcaTtttttaaggctgctattcgc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:51237235_51237235AT>A	uc001wyi.3	-	11	1496	c.1305_1305AT>T	c.(1303-1305)aatfs	p.N435fs	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Frame_Shift_Del_p.N435fs|NIN_uc001wyk.3_Frame_Shift_Del_p.N435fs|NIN_uc001wyo.3_Frame_Shift_Del_p.N435fs|NIN_uc001wyp.1_Frame_Shift_Del_p.N397fs	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	435					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TTCGGAGTTCATTTTTTAAGG	0.433			T	PDGFRB	MPD								-	51237236	T	-	51237236	7	5	27	1	0	1	0	1	0	0	0	0	10417	1493	52	0	5325	0	NIN	14	51237236	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	26262	51237236	56112304	6138	30089											
NIN	51199	broad.mit.edu	37	chr14	51245521	51245521	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactgcgttgcgtcttccagTgctagagaaggcaagagaag	13	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:51245521T>C	uc001wym.2	-	6	628	c.437A>G	c.(436-438)CAC>CGC	p.H146R	NIN_uc001wyi.2_Missense_Mutation_p.H146R|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.H146R|NIN_uc010tqp.1_Missense_Mutation_p.H152R|NIN_uc001wyo.2_Missense_Mutation_p.H146R|NIN_uc001wyp.1_Missense_Mutation_p.H108R	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	146					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					CGTCTTCCAGTGCTAGAGAAG	0.507			T	PDGFRB	MPD								C	51245521	T	C	51245521	3	2	27	1	0	0	0	0	1	0	0	0	10417	1710	59	3	6216	3	NIN	14	51245521	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	8285	51245521	56104019	6139	30090											
ABHD12B	145447	broad.mit.edu	37	chr14	51352376	51352376	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgtctgttgactacagAggtatgtgttaagaacggtg	13	5	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:51352376A>G	uc001wys.2	+	6	546	c.531A>G	c.(529-531)AGA>AGG	p.R177R	ABHD12B_uc001wyq.2_Silent_p.R70R|ABHD12B_uc001wyr.2_Silent_p.R100R|ABHD12B_uc010any.2_Intron	NM_181533	NP_853511	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B isoform b	177							hydrolase activity			breast(1)	1	all_epithelial(31;0.00481)|Breast(41;0.148)					TTGACTACAGAGGTATGTGTT	0.423													G	51352376	A	G	51352376	2	3	27	1	0	0	0	0	0	0	0	1	77	318	11	3		3	ABHD12B	14	51352376	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	106855	51352376	55997164	6140	30091											
FRMD6	122786	broad.mit.edu	37	chr14	52194524	52194524	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttgagcctcgatgacatcaGactttaccagaaagacttcc	7	12	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:52194524G>A	uc001wzd.2	+	14	1931	c.1646G>A	c.(1645-1647)AGA>AAA	p.R549K	FRMD6_uc001wzb.2_Missense_Mutation_p.R541K|FRMD6_uc001wzc.2_Missense_Mutation_p.R541K|FRMD6_uc001wze.2_Missense_Mutation_p.R472K|FRMD6_uc001wzf.2_Missense_Mutation_p.R242K|FRMD6_uc001wzg.2_Missense_Mutation_p.R191K	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	549						cytoskeleton|mitochondrion|plasma membrane	binding			ovary(1)|breast(1)|central_nervous_system(1)	3	all_epithelial(31;0.0163)|Breast(41;0.089)					GATGACATCAGACTTTACCAG	0.473													A	52194524	G	A	52194524	3	1	27	1	0	0	0	0	1	0	0	0	6054	942	33	4	1672	4	FRMD6	14	52194524	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	842148	52194524	55155016	6141	30092											
NID2	22795	broad.mit.edu	37	chr14	52495506	52495506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacacctgtagcttccagGcaagttgatacatacagagt	8	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:52495506G>A	uc001wzo.2	-	11	2698	c.2464C>T	c.(2464-2466)CCT>TCT	p.P822S	NID2_uc010tqs.1_Missense_Mutation_p.P822S|NID2_uc010tqt.1_Missense_Mutation_p.P822S|NID2_uc001wzp.2_Missense_Mutation_p.P822S	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	822	EGF-like 3; calcium-binding (Potential).					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					TAGCTTCCAGGCAAGTTGATA	0.433													A	52495506	G	A	52495506	3	1	27	1	0	0	0	0	1	0	0	0	10415	1203	42	2	1711	2	NID2	14	52495506	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	300982	52495506	54854034	6142	30093											
NID2	22795	broad.mit.edu	37	chr14	52534616	52534616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgcttgacctcctcgtaaGcgcctacctgctcccaggtg	10	17	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:52534616G>A	uc001wzo.2	-	2	728	c.494C>T	c.(493-495)GCT>GTT	p.A165V	NID2_uc010tqs.1_Missense_Mutation_p.A165V|NID2_uc010tqt.1_Missense_Mutation_p.A165V|NID2_uc001wzp.2_Missense_Mutation_p.A165V	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	165	NIDO.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					CTCCTCGTAAGCGCCTACCTG	0.642													A	52534616	G	A	52534616	3	1	27	1	0	0	0	0	1	0	0	0	10415	971	34	2	3717	2	NID2	14	52534616	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	39110	52534616	54814924	6143	30094											
TXNDC16	57544	broad.mit.edu	37	chr14	52949652	52949652	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctcttcctatctctgaaAacagtttctgccacttcatc	3	13	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:52949652A>G	uc001wzs.2	-	13	1589	c.1140T>C	c.(1138-1140)GTT>GTC	p.V380V	TXNDC16_uc010tqu.1_Silent_p.V375V|TXNDC16_uc010aoe.2_RNA	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	380					cell redox homeostasis	extracellular region					0	Breast(41;0.0716)					TATCTCTGAAAACAGTTTCTG	0.318													G	52949652	A	G	52949652	2	3	27	1	0	0	0	0	0	0	0	1	16792	1	1	3		3	TXNDC16	14	52949652	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	415036	52949652	54399888	6144	30095											
TXNDC16	57544	broad.mit.edu	37	chr14	52981596	52981596	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatatgctttttatacatAcccaatactttccaaaaggg	5	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:52981596A>G	uc001wzs.2	-	8	1054	c.605_splice	c.e8+1	p.G202_splice	TXNDC16_uc010tqu.1_Splice_Site_p.G197_splice|TXNDC16_uc010aoe.2_Splice_Site	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1						cell redox homeostasis	extracellular region					0	Breast(41;0.0716)					TTTTATACATACCCAATACTT	0.373													G	52981596	A	G	52981596	5	3	27	1	0	0	0	0	0	0	1	0	16792	405	14	3	1926	3	TXNDC16	14	52981596	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	31944	52981596	54367944	6145	30096											
DDHD1	80821	broad.mit.edu	37	chr14	53570477	53570477	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggcccctaaaacaattgagAtgttcttgctcaattaaatt	6	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:53570477A>T	uc001xai.2	-	2	1166	c.936T>A	c.(934-936)CAT>CAA	p.H312Q	DDHD1_uc001xaj.2_Missense_Mutation_p.H312Q|DDHD1_uc001xah.2_Missense_Mutation_p.H312Q	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	312					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)					AACAATTGAGATGTTCTTGCT	0.378													T	53570477	A	T	53570477	3	4	27	1	0	0	0	0	1	0	0	0	4326	330	12	5	1839	5	DDHD1	14	53570477	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	588881	53570477	53779063	6146	30097											
BMP4	652	broad.mit.edu	37	chr14	54417455	54417455	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaatgtttatacggtggaaGcccctttcccaatcagggcc	9	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:54417455G>A	uc001xal.3	-	3	709	c.522C>T	c.(520-522)GGC>GGT	p.G174G	BMP4_uc010aoh.2_Silent_p.G174G|BMP4_uc001xao.3_Silent_p.G174G|BMP4_uc001xan.3_Silent_p.G174G	NM_130851	NP_570912	P12644	BMP4_HUMAN	bone morphogenetic protein 4 preproprotein	174					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity				0						TACGGTGGAAGCCCCTTTCCC	0.557													A	54417455	G	A	54417455	2	1	27	1	0	0	0	0	0	0	0	1	1462	958	34	2		2	BMP4	14	54417455	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	846978	54417455	52932085	6147	30098											
BMP4	652	broad.mit.edu	37	chr14	54418876	54418876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtatcaaactagcatggCtcgcgcctcctagcaggact	10	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:54418876C>T	uc001xal.3	-	2	252	c.65G>A	c.(64-66)AGC>AAC	p.S22N	BMP4_uc010aoh.2_Missense_Mutation_p.S22N|BMP4_uc001xao.3_Missense_Mutation_p.S22N|BMP4_uc001xan.3_Missense_Mutation_p.S22N	NM_130851	NP_570912	P12644	BMP4_HUMAN	bone morphogenetic protein 4 preproprotein	22					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity				0						ACTAGCATGGCTCGCGCCTCC	0.577													T	54418876	C	T	54418876	3	4	27	1	0	0	0	0	1	0	0	0	1462	797	28	2	1169	2	BMP4	14	54418876	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1421	54418876	52930664	6148	30099											
SOCS4	122809	broad.mit.edu	37	chr14	55510474	55510474	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaaattctaacactttgcAcaagttccagaaaaagaaac	5	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:55510474A>G	uc001xbo.2	+	3	1280	c.715A>G	c.(715-717)ACA>GCA	p.T239A	SOCS4_uc001xbp.2_Missense_Mutation_p.T239A	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	239					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					ovary(1)|kidney(1)	2						AACACTTTGCACAAGTTCCAG	0.388													G	55510474	A	G	55510474	3	3	27	1	0	0	0	0	1	0	0	0	14916	159	6	3	717	3	SOCS4	14	55510474	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1091598	55510474	51839066	6149	30100											
SOCS4	122809	broad.mit.edu	37	chr14	55510709	55510709	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgagactcagcacaggaagActatttattctctgttagtt	8	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:55510709A>G	uc001xbo.2	+	3	1515	c.950A>G	c.(949-951)GAC>GGC	p.D317G	SOCS4_uc001xbp.2_Missense_Mutation_p.D317G	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	317	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					ovary(1)|kidney(1)	2						GCACAGGAAGACTATTTATTC	0.428													G	55510709	A	G	55510709	3	3	27	1	0	0	0	0	1	0	0	0	14916	275	10	3	952	3	SOCS4	14	55510709	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	235	55510709	51838831	6150	30101											
LGALS3	3958	broad.mit.edu	37	chr14	55609411	55609411	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atacaaagctggataataacTggggaagggaagaaagacag	13	4	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:55609411T>C	uc001xbr.2	+	5	692	c.541T>C	c.(541-543)TGG>CGG	p.W181R		NM_002306	NP_002297	P17931	LEG3_HUMAN	galectin 3	181	Beta-galactoside binding (By similarity).|Galectin.				cell differentiation|innate immune response|mRNA processing|RNA splicing	mitochondrial inner membrane|plasma membrane|spliceosomal complex	IgE binding|sugar binding				0						GGATAATAACTGGGGAAGGGA	0.368													C	55609411	T	C	55609411	3	2	27	1	0	0	0	0	1	0	0	0	8743	1580	55	3	555	3	LGALS3	14	55609411	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	98702	55609411	51740129	6151	30102											
TBPL2	387332	broad.mit.edu	37	chr14	55907245	55907245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctcggaacccgctccgGccagggcgcagaggccattt	13	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:55907245G>A	uc001xby.2	-	1	19	c.19C>T	c.(19-21)CCG>TCG	p.P7S		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	7					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding				0						ACCCGCTCCGGCCAGGGCGCA	0.692													A	55907245	G	A	55907245	3	1	27	1	0	0	0	0	1	0	0	0	15643	1203	42	2	1136	2	TBPL2	14	55907245	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	297834	55907245	51442295	6152	30103											
C14orf101	54916	broad.mit.edu	37	chr14	57052612	57052612	+	Frame_Shift_Del	DEL	T	T	-													agcagtagctgcatcattacTttttttcaccgttttcaggt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:57052611_57052611CT>C	uc001xcm.3	+	2	447	c.325_325CT>C	c.(325-327)cttfs	p.L109fs	C14orf101_uc001xcj.3_Non-coding_Transcript|C14orf101_uc001xck.3_Frame_Shift_Del_p.L109fs|C14orf101_uc010aot.1_Frame_Shift_Del_p.L109fs|C14orf101_uc001xcl.1_Non-coding_Transcript|C14orf101_uc001xcn.3_Non-coding_Transcript|C14orf101_uc010trf.2_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	Homo sapiens chromosome 14 open reading frame 101 (C14orf101), mRNA.	109						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(311;0.226)		TGCATCATTACTTTTTTTCAC	0.368													-	57052612	T	-	57052612	7	5	27	1	0	1	0	1	0	0	0	0	1734	1609	56	0	336	0	C14orf101	14	57052612	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	1145367	57052612	50296928	6153	30104											
C14orf101	54916	broad.mit.edu	37	chr14	57070532	57070532	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgttatctgtgtttgcaGgctttctggctcatctgctg	10	9	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:57070532G>A	uc001xcm.2	+	4	467	c.345_splice	c.e4-1	p.R115_splice	C14orf101_uc001xcj.2_Splice_Site|C14orf101_uc001xck.2_Splice_Site_p.R115_splice|C14orf101_uc010aot.1_Splice_Site_p.R115_splice|C14orf101_uc001xcl.1_Splice_Site|C14orf101_uc001xcn.2_Splice_Site|C14orf101_uc010trf.1_Intron	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	hypothetical protein LOC54916							integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)		TGTGTTTGCAGGCTTTCTGGC	0.408													A	57070532	G	A	57070532	5	1	27	1	0	0	0	0	0	0	1	0	1734	1014	35	4	358	4	C14orf101	14	57070532	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	17920	57070532	50279008	6154	30105											
C14orf101	54916	broad.mit.edu	37	chr14	57088287	57088287	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caactatgtgattgataagtTcgcaaagaaccttctcacct	6	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:57088287T>C	uc001xcm.2	+	11	1387	c.1265T>C	c.(1264-1266)TTC>TCC	p.F422S	C14orf101_uc001xcj.2_Intron|C14orf101_uc001xcl.1_Intron|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_Intron|C14orf101_uc001xco.2_Intron	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	hypothetical protein LOC54916	422						integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)		ATTGATAAGTTCGCAAAGAAC	0.368													C	57088287	T	C	57088287	3	2	27	1	0	0	0	0	1	0	0	0	1734	1783	62	3	1307	3	C14orf101	14	57088287	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	17755	57088287	50261253	6155	30106											
OTX2	5015	broad.mit.edu	37	chr14	57271037	57271037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgaacgtcgtcctctcccGgcgctgtttccggggggtgg	16	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:57271037G>A	uc001xcp.2	-	2	289	c.118C>T	c.(118-120)CGG>TGG	p.R40W	OTX2_uc010aou.2_Missense_Mutation_p.R40W|OTX2_uc001xcq.2_Missense_Mutation_p.R48W	NM_172337	NP_758840	P32243	OTX2_HUMAN	orthodenticle homeobox 2 isoform b	40	Homeobox.				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			ovary(1)	1	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GTCCTCTCCCGGCGCTGTTTC	0.622													A	57271037	G	A	57271037	3	1	27	1	0	0	0	0	1	0	0	0	11321	1115	39	1	759	1	OTX2	14	57271037	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	182750	57271037	50078503	6156	30107											
EXOC5	10640	broad.mit.edu	37	chr14	57713439	57713439	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacgtttacctgattgcttTtctgcagctcttgtaccttc	6	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:57713439T>C	uc001xct.2	-	3	511	c.260A>G	c.(259-261)AAA>AGA	p.K87R	EXOC5_uc010trg.1_Missense_Mutation_p.K32R|EXOC5_uc010trh.1_Missense_Mutation_p.K87R	NM_006544	NP_006535	O00471	EXOC5_HUMAN	SEC10 protein	87	Potential.				exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				ovary(2)|breast(1)	3						CTGATTGCTTTTCTGCAGCTC	0.343													C	57713439	T	C	57713439	3	2	27	1	0	0	0	0	1	0	0	0	5307	1841	64	3	1930	3	EXOC5	14	57713439	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	442402	57713439	49636101	6157	30108											
MUDENG	55745	broad.mit.edu	37	chr14	57747009	57747009	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctagttcacccttgtgtaActtctcttgactctgcaatt	5	11	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:57747009A>G	uc001xcv.2	+	3	1244	c.817A>G	c.(817-819)ACT>GCT	p.T273A	MUDENG_uc010tri.1_Missense_Mutation_p.T27A|MUDENG_uc010trj.1_Missense_Mutation_p.T170A	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Mu-2 related death-inducing protein	273	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex				ovary(1)	1						CCCTTGTGTAACTTCTCTTGA	0.418													G	57747009	A	G	57747009	3	3	27	1	0	0	0	0	1	0	0	0	9983	43	2	3	827	3	MUDENG	14	57747009	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	33570	57747009	49602531	6158	30109											
NAA30	122830	broad.mit.edu	37	chr14	57876098	57876098	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttctcatttctttgaaggTtgttttggaaaccgaaataa	7	5	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:57876098T>C	uc001xcx.3	+	5	1107	c.953T>C	c.(952-954)GTT>GCT	p.V318A	NAA30_uc010trk.1_Missense_Mutation_p.V60A|NAA30_uc010aow.2_RNA	NM_001011713	NP_001011713	Q147X3	NAA30_HUMAN	N-acetyltransferase 12	318	N-acetyltransferase.					cytoplasm	peptide alpha-N-acetyltransferase activity			skin(1)	1						TCTTTGAAGGTTGTTTTGGAA	0.229													C	57876098	T	C	57876098	3	2	27	1	0	0	0	0	1	0	0	0	10122	1739	60	3	967	3	NAA30	14	57876098	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	129089	57876098	49473442	6159	30110											
SLC35F4	341880	broad.mit.edu	37	chr14	58038710	58038710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgccatcatgacaatgcCggtaattgccattattgcag	8	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:58038710C>T	uc001xdb.1	-	5	943	c.943G>A	c.(943-945)GGC>AGC	p.G315S	SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Missense_Mutation_p.G156S	NM_001080455	NP_001073924			solute carrier family 35, member F4											ovary(2)	2						ATGACAATGCCGGTAATTGCC	0.428													T	58038710	C	T	58038710	3	4	27	1	0	0	0	0	1	0	0	0	14591	652	23	1	638	1	SLC35F4	14	58038710	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	162612	58038710	49310830	6160	30111											
ACTR10	55860	broad.mit.edu	37	chr14	58701258	58701258	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaagagagcattttccActgagaaatagaagtttgat	10	4	0	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:58701258A>G	uc001xdf.2	+	13	1346	c.1243A>G	c.(1243-1245)ACT>GCT	p.T415A	C14orf37_uc010tro.1_Intron|ACTR10_uc001xdg.2_Missense_Mutation_p.T217A|ACTR10_uc001xdh.2_Missense_Mutation_p.T217A|ACTR10_uc010trp.1_RNA|ACTR10_uc010apc.2_Missense_Mutation_p.T205A	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	uncharacterized hypothalamus protein HARP11	415						cytoplasm				central_nervous_system(1)	1						AGCATTTTCCACTGAGAAATA	0.348													G	58701258	A	G	58701258	3	3	27	1	0	0	0	0	1	0	0	0	208	159	6	3	1293	3	ACTR10	14	58701258	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	662548	58701258	48648282	6161	30112											
KIAA0586	9786	broad.mit.edu	37	chr14	58917322	58917322	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttaaaagaagttgaagatacGagttttgataaacagaaatc	8	3	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:58917322G>T	uc001xdv.3	+	8	1260	c.987G>T	c.(985-987)ACG>ACT	p.T329T	KIAA0586_uc010trr.1_Silent_p.T370T|KIAA0586_uc001xdt.3_Silent_p.T285T|KIAA0586_uc001xdu.3_Silent_p.T314T|KIAA0586_uc010trs.1_Silent_p.T244T|KIAA0586_uc010trt.1_Silent_p.T189T|KIAA0586_uc010tru.1_Silent_p.T189T	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	329										ovary(1)	1						TTGAAGATACGAGTTTTGATA	0.333													T	58917322	G	T	58917322	2	4	27	1	0	0	0	0	0	0	0	1	8186	1045	37	5		5	KIAA0586	14	58917322	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	216064	58917322	48432218	6162	30113											
DACT1	51339	broad.mit.edu	37	chr14	59112846	59112846	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgccgcaggagaacaaagTtgtacagcccctgaaaaaga	10	12	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:59112846T>C	uc001xdw.2	+	4	1669	c.1505T>C	c.(1504-1506)GTT>GCT	p.V502A	DACT1_uc010trv.1_Missense_Mutation_p.V221A|DACT1_uc001xdx.2_Missense_Mutation_p.V465A|DACT1_uc010trw.1_Missense_Mutation_p.V221A	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	502					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						GAGAACAAAGTTGTACAGCCC	0.597													C	59112846	T	C	59112846	3	2	27	1	0	0	0	0	1	0	0	0	4222	1725	60	3	1519	3	DACT1	14	59112846	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	195524	59112846	48236694	6163	30114											
C14orf135	64430	broad.mit.edu	37	chr14	60581930	60581930	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtcttggctcttttagaaActagcttgcttcatcacttt	6	9	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:60581930A>G	uc001xer.3	+	3	928	c.406A>G	c.(406-408)ACT>GCT	p.T136A	C14orf135_uc001xeq.2_Missense_Mutation_p.T136A	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	370	Helical; (Potential).					integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		TCTTTTAGAAACTAGCTTGCT	0.373													G	60581930	A	G	60581930	3	3	27	1	0	0	0	0	1	0	0	0	1745	43	2	3	412	3	C14orf135	14	60581930	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1469084	60581930	46767610	6164	30115											
C14orf135	64430	broad.mit.edu	37	chr14	60585237	60585237	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacactactctcttctccctTactccctcttttcacccttc	0	19	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:60585237T>C	uc001xer.3	+	6	1589	c.1067T>C	c.(1066-1068)TTA>TCA	p.L356S	C14orf135_uc001xeq.2_Missense_Mutation_p.L356S|C14orf135_uc010apm.2_RNA	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	590						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		TCTTCTCCCTTACTCCCTCTT	0.468													C	60585237	T	C	60585237	3	2	27	1	0	0	0	0	1	0	0	0	1745	1764	61	3	1085	3	C14orf135	14	60585237	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3307	60585237	46764303	6165	30116											
C14orf39	317761	broad.mit.edu	37	chr14	60903672	60903672	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaatggaaaactaaaaTcatcttttccagctccaaat	4	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:60903672T>G	uc001xez.3	-	18	1765	c.1655A>C	c.(1654-1656)GAT>GCT	p.D552A	C14orf39_uc010apo.2_Missense_Mutation_p.D263A	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	552										ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		AAAACTAAAATCATCTTTTCC	0.343													G	60903672	T	G	60903672	3	3	27	1	0	0	0	0	1	0	0	0	1772	1435	50	5	112	5	C14orf39	14	60903672	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	318435	60903672	46445868	6166	30117											
SIX6	4990	broad.mit.edu	37	chr14	60976477	60976477	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtaaggaagaagttcccgCtgccgcgcaccatttgggac	13	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:60976477C>T	uc001xfa.3	+	1	540	c.361C>T	c.(361-363)CTG>TTG	p.L121L		NM_007374	NP_031400	O95475	SIX6_HUMAN	SIX homeobox 6	121					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GAAGTTCCCGCTGCCGCGCAC	0.597													T	60976477	C	T	60976477	2	4	27	1	0	0	0	0	0	0	0	1	14351	796	28	2		2	SIX6	14	60976477	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	72805	60976477	46373063	6167	30118											
SIX1	6495	broad.mit.edu	37	chr14	61115821	61115821	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccacaggaacctgcccagGcgctccaggtttccgccttg	11	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:61115821G>A	uc001xfb.3	-	1	335	c.87C>T	c.(85-87)CGC>CGT	p.R29R		NM_005982	NP_005973	Q15475	SIX1_HUMAN	SIX homeobox 1	29					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		ACCTGCCCAGGCGCTCCAGGT	0.647													A	61115821	G	A	61115821	2	1	27	1	0	0	0	0	0	0	0	1	14346	1190	42	2		2	SIX1	14	61115821	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	139344	61115821	46233719	6168	30119											
MNAT1	4331	broad.mit.edu	37	chr14	61346478	61346478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacaagcttgaagaagctcTgtatgaataccagccactgc	8	11	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:61346478T>C	uc001xfd.2	+	7	845	c.734T>C	c.(733-735)CTG>CCG	p.L245P	MNAT1_uc001xfe.2_Missense_Mutation_p.L203P	NM_002431	NP_002422	P51948	MAT1_HUMAN	menage a trois 1 (CAK assembly factor)	245					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding			ovary(1)|lung(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		GAAGAAGCTCTGTATGAATAC	0.378								Direct_reversal_of_damage|NER					C	61346478	T	C	61346478	3	2	27	1	0	0	0	0	1	0	0	0	9674	1580	55	3	760	3	MNAT1	14	61346478	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	230657	61346478	46003062	6169	30120											
KCNH5	27133	broad.mit.edu	37	chr14	63174910	63174910	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acataggccagagacgtctgAatgggagtaatctgtgacac	12	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:63174910A>T	uc001xfx.2	-	11	2334	c.2283T>A	c.(2281-2283)ATT>ATA	p.I761I	KCNH5_uc001xfy.2_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	761	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GAGACGTCTGAATGGGAGTAA	0.527													T	63174910	A	T	63174910	2	4	27	1	0	0	0	0	0	0	0	1	8035	242	9	5		5	KCNH5	14	63174910	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1828432	63174910	44174630	6170	30121											
PPP2R5E	5529	broad.mit.edu	37	chr14	63842769	63842769	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtctaagacctctctttaaCtccagatcctccaatttttt	3	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:63842769C>T	uc001xgd.1	-	14	1952	c.1362G>A	c.(1360-1362)GAG>GAA	p.E454E	PPP2R5E_uc010tsf.1_Silent_p.E378E|PPP2R5E_uc010tsg.1_Silent_p.E378E|PPP2R5E_uc001xge.2_Silent_p.E454E|PPP2R5E_uc010tsh.1_Silent_p.E449E	NM_006246	NP_006237	Q16537	2A5E_HUMAN	epsilon isoform of regulatory subunit B56,	454					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CTCTCTTTAACTCCAGATCCT	0.358													T	63842769	C	T	63842769	2	4	27	1	0	0	0	0	0	0	0	1	12396	564	20	4		4	PPP2R5E	14	63842769	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	667859	63842769	43506771	6171	30122											
SYNE2	23224	broad.mit.edu	37	chr14	64608200	64608200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaacaaaaatggacaatgCtcataactcaacttccagat	5	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:64608200C>T	uc001xgm.2	+	81	15348	c.15118C>T	c.(15118-15120)CTC>TTC	p.L5040F	SYNE2_uc001xgl.2_Missense_Mutation_p.L5040F|SYNE2_uc010apy.2_Missense_Mutation_p.L1425F|SYNE2_uc001xgn.2_Missense_Mutation_p.L2F|SYNE2_uc001xgo.2_RNA	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5040	Spectrin 1.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATGGACAATGCTCATAACTCA	0.388													T	64608200	C	T	64608200	3	4	27	1	0	0	0	0	1	0	0	0	15443	797	28	2	15436	2	SYNE2	14	64608200	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	765431	64608200	42741340	6172	30123											
SYNE2	23224	broad.mit.edu	37	chr14	64628971	64628972	+	Frame_Shift_Ins	INS	-	-	C													caacctggcagagatcctgcINSccccagccctgcaggacata							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:64628970_64628971G>GC	uc001xgl.3	+	87	16505_16506	c.16275_16276G>GC	c.(16273-16278)ctgcccfs	p.L5425fs	SYNE2_uc001xgm.3_Frame_Shift_Ins_p.L5425fs|SYNE2_uc010apy.3_Frame_Shift_Ins_p.L1810fs|SYNE2_uc001xgn.3_Frame_Shift_Ins_p.L387fs|SYNE2_uc021rui.1_Frame_Shift_Ins_p.L387fs|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc001xgp.3_Frame_Shift_Ins_p.L154fs|SYNE2_uc010aqa.3_5'UTR	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5425					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGAGATCCTGCCCCCAGCCCT	0.545													C	64628972	-	C	64628971	7	5	27	1	0	1	1	0	0	0	0	0	15443	739	26	0	16622	0	SYNE2	14	64628971	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	20771	64628971	42720569	6173	30124											
AKAP5	9495	broad.mit.edu	37	chr14	64936006	64936006	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaagactatgaaagtacagaGattgtagctgaagaaactaa	9	4	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:64936006G>A	uc001xhd.3	+	2	1272	c.894G>A	c.(892-894)GAG>GAA	p.E298E	ZBTB25_uc001xhc.2_Intron	NM_004857	NP_004848	P24588	AKAP5_HUMAN	A-kinase anchor protein 5	298					energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding				0				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		AAAGTACAGAGATTGTAGCTG	0.368													A	64936006	G	A	64936006	2	1	27	1	0	0	0	0	0	0	0	1	454	933	33	4		4	AKAP5	14	64936006	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	307035	64936006	42413534	6174	30125											
FNTB	2342	broad.mit.edu	37	chr14	65521297	65521297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctgtccttacaggtcgCgtgatttctaccacacctgc	8	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:65521297C>T	uc001xia.2	+	11	1237	c.1072C>T	c.(1072-1074)CGT>TGT	p.R358C	FNTB_uc010tsl.1_Missense_Mutation_p.R392C|FNTB_uc010tsm.1_Missense_Mutation_p.R312C|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Missense_Mutation_p.R114C|FNTB_uc010tso.1_Missense_Mutation_p.R273C	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	358	PFTB 5.				protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TTACAGGTCGCGTGATTTCTA	0.577													T	65521297	C	T	65521297	3	4	27	1	0	0	0	0	1	0	0	0	5978	768	27	1	1114	1	FNTB	14	65521297	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	585291	65521297	41828243	6175	30126											
GPHN	10243	broad.mit.edu	37	chr14	67589003	67589003	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagatgacctcttaccaGggaagattcgagacagcaat	10	9	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:67589003G>T	uc001xiy.2	+	16	2679	c.1558G>T	c.(1558-1560)GGG>TGG	p.G520W	GPHN_uc001xix.2_Missense_Mutation_p.G553W|GPHN_uc010tss.1_Missense_Mutation_p.G566W|GPHN_uc010tst.1_Missense_Mutation_p.G489W|GPHN_uc010tsu.1_Missense_Mutation_p.G443W	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	520	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		CCTCTTACCAGGGAAGATTCG	0.368			T	MLL	AL								T	67589003	G	T	67589003	3	4	27	1	0	0	0	0	1	0	0	0	6610	1000	35	5	1723	5	GPHN	14	67589003	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2067706	67589003	39760537	6176	30127											
MPP5	64398	broad.mit.edu	37	chr14	67787971	67787971	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgtcttttaagtcttcgtAcacaggtaaagctagaactt	7	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:67787971A>G	uc001xjc.2	+	13	2201	c.1735A>G	c.(1735-1737)ACA>GCA	p.T579A	MPP5_uc001xjd.2_Missense_Mutation_p.T545A|ATP6V1D_uc001xje.2_Intron	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5	579	Guanylate kinase-like.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			ovary(1)	1				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AAGTCTTCGTACACAGGTAAA	0.373													G	67787971	A	G	67787971	3	3	27	1	0	0	0	0	1	0	0	0	9737	391	14	3	1777	3	MPP5	14	67787971	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	198968	67787971	39561569	6177	30128											
PLEK2	26499	broad.mit.edu	37	chr14	67859098	67859098	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttaactccacagtgctcAggctaatttcttccttgggg	8	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:67859098A>G	uc001xjh.1	-	6	768	c.716T>C	c.(715-717)CTG>CCG	p.L239P		NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	239					actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				ovary(1)|pancreas(1)	2				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		CACAGTGCTCAGGCTAATTTC	0.532													G	67859098	A	G	67859098	3	3	27	1	0	0	0	0	1	0	0	0	12054	188	7	3	361	3	PLEK2	14	67859098	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	71127	67859098	39490442	6178	30129											
PLEKHH1	57475	broad.mit.edu	37	chr14	68044777	68044777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacgtgccggtggaagctgCctcggtggactaccatgtgt	14	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:68044777C>T	uc001xjl.1	+	19	2754	c.2612C>T	c.(2611-2613)GCC>GTC	p.A871V	PLEKHH1_uc010tsw.1_Missense_Mutation_p.A439V|PLEKHH1_uc001xjn.1_Missense_Mutation_p.A386V|PLEKHH1_uc010tsx.1_5'Flank	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	871	MyTH4.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GTGGAAGCTGCCTCGGTGGAC	0.602													T	68044777	C	T	68044777	3	4	27	1	0	0	0	0	1	0	0	0	12076	739	26	2	2682	2	PLEKHH1	14	68044777	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	185679	68044777	39304763	6179	30130											
ZFYVE26	23503	broad.mit.edu	37	chr14	68249902	68249902	+	Frame_Shift_Del	DEL	C	C	-													gacctttaacctcggggaagCccccaggcaggccaccgtag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:68249901_68249901GC>G	uc001xka.2	-	20	4107	c.3968_3968GC>C	c.(3967-3969)gctfs	p.A1323fs	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Frame_Shift_Del_p.A1323fs	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1323					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CCTCGGGGAAGCCCCCAGGCA	0.607													-	68249902	C	-	68249902	7	5	27	1	0	1	0	1	0	0	0	0	17665	739	26	0	3740	0	ZFYVE26	14	68249902	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	205125	68249902	39099638	6180	30131											
GALNTL1	57452	broad.mit.edu	37	chr14	69795187	69795187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgatccggtcccgagtgCgtggggcggacgtggctgca	19	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:69795187C>T	uc010aqu.1	+	6	682	c.589C>T	c.(589-591)CGT>TGT	p.R197C	GALNTL1_uc001xla.1_Missense_Mutation_p.R197C|GALNTL1_uc001xlb.1_Missense_Mutation_p.R197C	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	197	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)	2				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		GTCCCGAGTGCGTGGGGCGGA	0.627													T	69795187	C	T	69795187	3	4	27	1	0	0	0	0	1	0	0	0	6221	768	27	1	611	1	GALNTL1	14	69795187	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1545285	69795187	37554353	6181	30132											
SLC10A1	6554	broad.mit.edu	37	chr14	70263858	70263858	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttgaatggggcagacgcGttgtgggcctccatcctcct	13	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:70263858G>A	uc001xlr.2	-	1	149	c.15C>T	c.(13-15)AAC>AAT	p.N5N		NM_003049	NP_003040	Q14973	NTCP_HUMAN	solute carrier family 10, member 1	5					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(1)	1				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		GGGCAGACGCGTTGTGGGCCT	0.547													A	70263858	G	A	70263858	2	1	27	1	0	0	0	0	0	0	0	1	14373	1136	40	1		1	SLC10A1	14	70263858	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	468671	70263858	37085682	6182	30133											
SLC8A3	6547	broad.mit.edu	37	chr14	70517823	70517823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcagtttgtccaccgtaGtctgttaagaagagaaaaac	9	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:70517823G>A	uc001xly.2	-	6	2787	c.2033C>T	c.(2032-2034)ACT>ATT	p.T678I	SLC8A3_uc001xlu.2_Missense_Mutation_p.T35I|SLC8A3_uc001xlv.2_Missense_Mutation_p.T49I|SLC8A3_uc001xlw.2_Missense_Mutation_p.T675I|SLC8A3_uc001xlx.2_Missense_Mutation_p.T676I|SLC8A3_uc001xlz.2_Missense_Mutation_p.T672I|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Missense_Mutation_p.T35I	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	678	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTCCACCGTAGTCTGTTAAGA	0.488													A	70517823	G	A	70517823	3	1	27	1	0	0	0	0	1	0	0	0	14708	1043	36	4	762	4	SLC8A3	14	70517823	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	253965	70517823	36831717	6183	30134											
ADAM21	8747	broad.mit.edu	37	chr14	70924308	70924308	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatttccggctactgtcaggCtgggccctcccagcatttca	9	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:70924308C>A	uc001xmd.2	+	1	92	c.92C>A	c.(91-93)GCT>GAT	p.A31D		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	31					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TACTGTCAGGCTGGGCCCTCC	0.537													A	70924308	C	A	70924308	3	1	27	1	0	0	0	0	1	0	0	0	243	797	28	5	94	5	ADAM21	14	70924308	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	406485	70924308	36425232	6184	30135											
ADAM20	8748	broad.mit.edu	37	chr14	70989594	70989594	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtgacagatgaaccatActggcacacttcttacggat	9	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:70989594A>G	uc001xme.2	-	2	2276	c.2031T>C	c.(2029-2031)AGT>AGC	p.S677S		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	627	Cys-rich.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GATGAACCATACTGGCACACT	0.468													G	70989594	A	G	70989594	2	3	27	1	0	0	0	0	0	0	0	1	242	388	14	3		3	ADAM20	14	70989594	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	65286	70989594	36359946	6185	30136											
PCNX	22990	broad.mit.edu	37	chr14	71429014	71429014	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccagttggttgcagttccaGaaattcttatgccggtctag	10	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:71429014G>T	uc001xmo.2	+	3	880	c.434G>T	c.(433-435)AGA>ATA	p.R145I	PCNX_uc001xmn.3_Missense_Mutation_p.R145I|PCNX_uc010are.1_Missense_Mutation_p.R145I	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	145						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGCAGTTCCAGAAATTCTTAT	0.473													T	71429014	G	T	71429014	3	4	27	1	0	0	0	0	1	0	0	0	11591	942	33	5	444	5	PCNX	14	71429014	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	439420	71429014	35920526	6186	30137											
PCNX	22990	broad.mit.edu	37	chr14	71435739	71435739	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttctcttaactttgtaggAgatacagacactgctaagac	8	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:71435739A>G	uc001xmo.2	+	5	962	c.516A>G	c.(514-516)GGA>GGG	p.G172G	PCNX_uc001xmn.3_Silent_p.G172G|PCNX_uc010are.1_Silent_p.G172G	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	172						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ACTTTGTAGGAGATACAGACA	0.383													G	71435739	A	G	71435739	2	3	27	1	0	0	0	0	0	0	0	1	11591	318	11	3		3	PCNX	14	71435739	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	6725	71435739	35913801	6187	30138											
PCNX	22990	broad.mit.edu	37	chr14	71444774	71444774	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgggctagcagttttgatTcaagccggcatagggactat	12	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:71444774T>C	uc001xmo.2	+	6	2166	c.1720T>C	c.(1720-1722)TCA>CCA	p.S574P	PCNX_uc001xmn.3_Missense_Mutation_p.S574P|PCNX_uc010are.1_Missense_Mutation_p.S574P	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	574						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGTTTTGATTCAAGCCGGCA	0.473													C	71444774	T	C	71444774	3	2	27	1	0	0	0	0	1	0	0	0	11591	1783	62	3	1742	3	PCNX	14	71444774	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9035	71444774	35904766	6188	30139											
PCNX	22990	broad.mit.edu	37	chr14	71478227	71478227	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgacacagattctcatgtAtccagttctacctcagttcg	7	11	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:71478227A>G	uc001xmo.2	+	10	3185	c.2739A>G	c.(2737-2739)GTA>GTG	p.V913V	PCNX_uc001xmn.3_3'UTR|PCNX_uc010are.1_Silent_p.V807V|PCNX_uc010arf.1_5'Flank	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	913						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATTCTCATGTATCCAGTTCTA	0.279													G	71478227	A	G	71478227	2	3	27	1	0	0	0	0	0	0	0	1	11591	436	16	3		3	PCNX	14	71478227	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	33453	71478227	35871313	6189	30140											
PCNX	22990	broad.mit.edu	37	chr14	71571997	71571997	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaacagtggtggcaatatTgaagattctgatactggagg	13	4	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:71571997T>C	uc001xmo.2	+	33	6587	c.6141T>C	c.(6139-6141)ATT>ATC	p.I2047I	PCNX_uc010are.1_Silent_p.I1936I|PCNX_uc010arf.1_Silent_p.I835I|PCNX_uc001xmp.2_Silent_p.I131I	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	2047						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTGGCAATATTGAAGATTCTG	0.463													C	71571997	T	C	71571997	2	2	27	1	0	0	0	0	0	0	0	1	11591	1800	63	3		3	PCNX	14	71571997	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	93770	71571997	35777543	6190	30141											
SIPA1L1	26037	broad.mit.edu	37	chr14	72055054	72055054	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggactccagatttctcatGcctgaagcctaccccagctc	7	15	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:72055054G>T	uc001xms.2	+	2	813	c.465G>T	c.(463-465)ATG>ATT	p.M155I	SIPA1L1_uc001xmt.2_Missense_Mutation_p.M155I|SIPA1L1_uc001xmu.2_Missense_Mutation_p.M155I|SIPA1L1_uc001xmv.2_Missense_Mutation_p.M155I	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	155					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GATTTCTCATGCCTGAAGCCT	0.473													T	72055054	G	T	72055054	3	4	27	1	0	0	0	0	1	0	0	0	14329	1319	46	5	467	5	SIPA1L1	14	72055054	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	483057	72055054	35294486	6191	30142											
SIPA1L1	26037	broad.mit.edu	37	chr14	72152235	72152235	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcccgtcccaggtgcagagTcccatgacctcgcggctgaa	12	15	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:72152235T>A	uc001xms.2	+	10	3609	c.3261T>A	c.(3259-3261)AGT>AGA	p.S1087R	SIPA1L1_uc001xmt.2_Missense_Mutation_p.S1087R|SIPA1L1_uc001xmu.2_Missense_Mutation_p.S1087R|SIPA1L1_uc001xmv.2_Missense_Mutation_p.S1087R|SIPA1L1_uc010ttm.1_Missense_Mutation_p.S562R	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1087					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AGGTGCAGAGTCCCATGACCT	0.547													A	72152235	T	A	72152235	3	1	27	1	0	0	0	0	1	0	0	0	14329	1664	58	5	3295	5	SIPA1L1	14	72152235	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	97181	72152235	35197305	6192	30143											
SIPA1L1	26037	broad.mit.edu	37	chr14	72165809	72165809	+	Frame_Shift_Del	DEL	G	G	-													tccagtgatactggttctgtGgggggcacttacaggcagaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:72165808_72165808TG>T	uc001xms.3	+	10	3846	c.3485_3485TG>T	c.(3484-3486)gtgfs	p.V1162fs	SIPA1L1_uc001xmt.3_Frame_Shift_Del_p.V1162fs|SIPA1L1_uc001xmu.3_Frame_Shift_Del_p.V1162fs|SIPA1L1_uc001xmv.3_Frame_Shift_Del_p.V1162fs|SIPA1L1_uc010ttm.2_Frame_Shift_Del_p.V637fs	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1162					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTGGTTCTGTGGGGGGCACT	0.493													-	72165809	G	-	72165809	7	5	27	1	0	1	0	1	0	0	0	0	14329	1335	47	0	3524	0	SIPA1L1	14	72165809	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	13574	72165809	35183731	6193	30144											
RGS6	9628	broad.mit.edu	37	chr14	72936781	72936781	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatctttatgcaagcagaaGcacaagtaaagtaggtgaac	9	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:72936781G>T	uc001xna.3	+	8	1049	c.526G>T	c.(526-528)GCA>TCA	p.A176S	RGS6_uc010ttn.1_Missense_Mutation_p.A176S|RGS6_uc001xmx.3_Missense_Mutation_p.A176S|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.A176S|RGS6_uc010ttp.1_Missense_Mutation_p.A107S|RGS6_uc001xmz.1_Missense_Mutation_p.A37S|RGS6_uc010arg.2_RNA	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	176					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GCAAGCAGAAGCACAAGTAAA	0.413													T	72936781	G	T	72936781	3	4	27	1	0	0	0	0	1	0	0	0	13309	971	34	5	552	5	RGS6	14	72936781	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	770972	72936781	34412759	6194	30145											
DPF3	8110	broad.mit.edu	37	chr14	73181139	73181139	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccatacttactgtcacagAcgtaaggtttgtcgtggtct	10	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:73181139A>G	uc001xnc.2	-	6	609	c.596T>C	c.(595-597)GTC>GCC	p.V199A	DPF3_uc001xnd.1_RNA|DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.V199A|DPF3_uc010ttq.1_Missense_Mutation_p.V209A	NM_012074	NP_036206	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	199	C2H2-type.				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ACTGTCACAGACGTAAGGTTT	0.642													G	73181139	A	G	73181139	3	3	27	1	0	0	0	0	1	0	0	0	4718	275	10	3	493	3	DPF3	14	73181139	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	244358	73181139	34168401	6195	30146											
PAPLN	89932	broad.mit.edu	37	chr14	73721271	73721271	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcggagcgttacttgccgGggtgaaaggggttctttgct	16	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:73721271G>T	uc010ttx.1	+	12	1516	c.1353G>T	c.(1351-1353)CGG>CGT	p.R451R	PAPLN_uc001xnw.3_Silent_p.R424R|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.R451R	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	451	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TTACTTGCCGGGGTGAAAGGG	0.617													T	73721271	G	T	73721271	2	4	27	1	0	0	0	0	0	0	0	1	11428	1219	43	5		5	PAPLN	14	73721271	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	540132	73721271	33628269	6196	30147											
NUMB	8650	broad.mit.edu	37	chr14	73750839	73750839	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcatagtggaaggcaacTcattgatgcgtagggatagt	13	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:73750839T>C	uc001xny.1	-	10	1219	c.899A>G	c.(898-900)GAG>GGG	p.E300G	NUMB_uc010aro.1_Intron|NUMB_uc010arp.1_Intron|NUMB_uc010arq.1_Intron|NUMB_uc010arr.1_Intron|NUMB_uc001xoa.1_Missense_Mutation_p.E300G|NUMB_uc001xnz.1_Missense_Mutation_p.E289G|NUMB_uc001xob.1_Missense_Mutation_p.E289G|NUMB_uc001xod.1_Missense_Mutation_p.E300G|NUMB_uc001xoc.1_Missense_Mutation_p.E300G|NUMB_uc010ars.1_Missense_Mutation_p.E289G|NUMB_uc001xof.1_Missense_Mutation_p.E264G|NUMB_uc010ttz.1_Missense_Mutation_p.E46G	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	numb homolog isoform 1	300					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				ovary(2)|central_nervous_system(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GGAAGGCAACTCATTGATGCG	0.473													C	73750839	T	C	73750839	3	2	27	1	0	0	0	0	1	0	0	0	10751	1551	54	3	1072	3	NUMB	14	73750839	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	29568	73750839	33598701	6197	30148											
HEATR4	399671	broad.mit.edu	37	chr14	73945354	73945354	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagggagaagacatgatgGgagaaaaaaatgttctctct	12	5	2	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:73945354G>T	uc010tua.1	-	18	3307	c.2897C>A	c.(2896-2898)CCC>CAC	p.P966H	uc001xoi.1_RNA	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)		AGACATGATGGGAGAAAAAAA	0.468													T	73945354	G	T	73945354	3	4	27	1	0	0	0	0	1	0	0	0	7030	1232	43	5	46	5	HEATR4	14	73945354	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	194515	73945354	33404186	6198	30149											
ACOT2	10965	broad.mit.edu	37	chr14	74040291	74040291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactacttgctcagtcatccCgaggttagttcttctttcag	7	11	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:74040291C>T	uc001xon.3	+	2	1016	c.843C>T	c.(841-843)CCC>CCT	p.P281P	ACOT1_uc010tuc.1_Intron|ACOT2_uc001xom.2_Silent_p.P84P	NM_006821	NP_006812	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	281					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		TCAGTCATCCCGAGGTTAGTT	0.433													T	74040291	C	T	74040291	2	4	27	1	0	0	0	0	0	0	0	1	152	639	23	1		1	ACOT2	14	74040291	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	94937	74040291	33309249	6199	30150											
DNAL1	83544	broad.mit.edu	37	chr14	74128725	74128725	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tacaaactgcattgaaaaaaTtgccaacctgaatggcttaa	6	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:74128725T>A	uc001xoq.3	+	4	353	c.188T>A	c.(187-189)ATT>AAT	p.I63N	DNAL1_uc010aru.2_Missense_Mutation_p.I24N|DNAL1_uc010arv.2_RNA	NM_031427	NP_113615	Q4LDG9	DNAL1_HUMAN	axonemal dynein light chain 1	63	LRR 1.										0				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		ATTGAAAAAATTGCCAACCTG	0.299													A	74128725	T	A	74128725	3	1	27	1	0	0	0	0	1	0	0	0	4657	1493	52	5	202	5	DNAL1	14	74128725	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	88434	74128725	33220815	6200	30151											
C14orf43	91748	broad.mit.edu	37	chr14	74205679	74205679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttagagaggcggcgggagcGgcgggggaaggggatctgga	23	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:74205679G>A	uc001xot.2	-	2	1816	c.1033C>T	c.(1033-1035)CGC>TGC	p.R345C	C14orf43_uc001xou.2_Missense_Mutation_p.R345C|C14orf43_uc010tud.1_Missense_Mutation_p.R345C|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	345	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		CGGCGGGAGCGGCGGGGGAAG	0.672													A	74205679	G	A	74205679	3	1	27	1	0	0	0	0	1	0	0	0	1774	1116	39	1	2148	1	C14orf43	14	74205679	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	76954	74205679	33143861	6201	30152											
C14orf43	91748	broad.mit.edu	37	chr14	74206622	74206623	+	Missense_Mutation	DNP	AG	AG	GA													tgctgggggggctgcaggggAgggggctgctccttgggagc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:74206622_74206623AG>GA	uc001xot.2	-	2	872_873	c.89_90CT>TC	c.(88-90)CCT>CTC	p.P30L	C14orf43_uc001xou.2_Missense_Mutation_p.P30L|C14orf43_uc010tud.1_Missense_Mutation_p.P30L|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GCTGCAGGGGAGGGGGCTGCTC	0.649													GA	74206623	AG	GA	74206622	3	3	27	1	0	0	0	0	1	0	0	0	1774	291	11	3	3091	3	C14orf43	14	74206622	Missense_Mutation	DNP	AG	TCGA-BR-6452-01A-12D-1800-08	943	74206622	33142918	6202	30153											
ALDH6A1	4329	broad.mit.edu	37	chr14	74534085	74534085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcaggtgattgattacctGcattgactctcaggtttttg	10	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:74534085G>A	uc001xpo.2	-	8	1139	c.1040C>T	c.(1039-1041)GCA>GTA	p.A347V	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010asa.2_Missense_Mutation_p.A192V|ALDH6A1_uc010tuq.1_Missense_Mutation_p.A334V	NM_005589	NP_005580	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6A1 precursor	347						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	TTGATTACCTGCATTGACTCT	0.517													A	74534085	G	A	74534085	3	1	27	1	0	0	0	0	1	0	0	0	503	1319	46	2	587	2	ALDH6A1	14	74534085	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	327463	74534085	32815455	6203	30154											
ABCD4	5826	broad.mit.edu	37	chr14	74758990	74758990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgccagcccgctactcacGtgtccaagccccactcgctc	7	20	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:74758990G>A	uc001xpr.2	-	11	1270	c.1118C>T	c.(1117-1119)ACA>ATA	p.T373I	ABCD4_uc001xps.2_Missense_Mutation_p.T214I|ABCD4_uc001xpt.2_Missense_Mutation_p.T214I|ABCD4_uc010tur.1_Missense_Mutation_p.T269I|ABCD4_uc001xpu.2_Missense_Mutation_p.T110I|ABCD4_uc001xpv.2_RNA	NM_005050	NP_005041	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D, member 4	373						ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CGCTACTCACGTGTCCAAGCC	0.602													A	74758990	G	A	74758990	3	1	27	1	0	0	0	0	1	0	0	0	63	1159	40	1	738	1	ABCD4	14	74758990	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	224905	74758990	32590550	6204	30155											
C14orf115	55237	broad.mit.edu	37	chr14	74824569	74824569	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggctctggcacctgcccGgccttgccccccagggaggt	14	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:74824569G>A	uc001xpw.3	+	2	1274	c.1083G>A	c.(1081-1083)CCG>CCA	p.P361P		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	361					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		GCACCTGCCCGGCCTTGCCCC	0.657													A	74824569	G	A	74824569	2	1	27	1	0	0	0	0	0	0	0	1	1740	1103	39	1		1	C14orf115	14	74824569	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	65579	74824569	32524971	6205	30156											
TMEM90A	646658	broad.mit.edu	37	chr14	74874616	74874616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagagcatggagaagagaGtaagtcccaggtggtccctg	15	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:74874616G>A	uc001xpx.2	-	3	742	c.494C>T	c.(493-495)ACT>ATT	p.T165I		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	transmembrane protein 90A	165	Helical; (Potential).				response to biotic stimulus	Golgi apparatus|integral to membrane					0				BRCA - Breast invasive adenocarcinoma(234;0.00159)		GGAGAAGAGAGTAAGTCCCAG	0.572													A	74874616	G	A	74874616	3	1	27	1	0	0	0	0	1	0	0	0	16215	1029	36	4	230	4	TMEM90A	14	74874616	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	50047	74874616	32474924	6206	30157											
LTBP2	4053	broad.mit.edu	37	chr14	74975558	74975558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacggtgccattggccagCtggaagccctggggacagag	15	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:74975558C>T	uc001xqa.2	-	23	3888	c.3501G>A	c.(3499-3501)CAG>CAA	p.Q1167Q		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1167	EGF-like 11; calcium-binding (Potential).|Cys-rich.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CATTGGCCAGCTGGAAGCCCT	0.627													T	74975558	C	T	74975558	2	4	27	1	0	0	0	0	0	0	0	1	9074	796	28	2		2	LTBP2	14	74975558	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	100942	74975558	32373982	6207	30158											
LTBP2	4053	broad.mit.edu	37	chr14	75019682	75019682	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctcacagctgttggcacAgtgtccacgggcacaggtct	11	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:75019682A>G	uc001xqa.2	-	5	1492	c.1105T>C	c.(1105-1107)TGT>CGT	p.C369R		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	369					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTGTTGGCACAGTGTCCACGG	0.582													G	75019682	A	G	75019682	3	3	27	1	0	0	0	0	1	0	0	0	9074	188	7	3	4488	3	LTBP2	14	75019682	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	44124	75019682	32329858	6208	30159											
LTBP2	4053	broad.mit.edu	37	chr14	75078162	75078162	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccatgctcaccccgtgagCcgccctcgcggcggggttgg	14	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:75078162C>T	uc001xqa.2	-	1	873	c.486G>A	c.(484-486)CGG>CGA	p.R162R		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	162					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		ACCCCGTGAGCCGCCCTCGCG	0.731													T	75078162	C	T	75078162	2	4	27	1	0	0	0	0	0	0	0	1	9074	726	26	2		2	LTBP2	14	75078162	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	58480	75078162	32271378	6209	30160											
YLPM1	56252	broad.mit.edu	37	chr14	75264547	75264547	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttttggacagcagcatcaGcagcaacctaagtcacaagc	9	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:75264547G>A	uc001xqj.3	+	5	2671	c.2547G>A	c.(2545-2547)CAG>CAA	p.Q849Q	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	654					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGCAGCATCAGCAGCAACCTA	0.453													A	75264547	G	A	75264547	2	1	27	1	0	0	0	0	0	0	0	1	17483	962	34	2		2	YLPM1	14	75264547	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	186385	75264547	32084993	6210	30161											
MLH3	27030	broad.mit.edu	37	chr14	75513923	75513923	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacaactactatctgaatcActatgctccatagtagtgat	6	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:75513923A>G	uc001xrd.1	-	2	2652	c.2436T>C	c.(2434-2436)AGT>AGC	p.S812S	MLH3_uc001xre.1_Silent_p.S812S|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	812					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TATCTGAATCACTATGCTCCA	0.403								MMR					G	75513923	A	G	75513923	2	3	27	1	0	0	0	0	0	0	0	1	9618	156	6	3		3	MLH3	14	75513923	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	249376	75513923	31835617	6211	30162											
MLH3	27030	broad.mit.edu	37	chr14	75515816	75515816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaagaaatggaagggtgCatgagtgagagagcttctat	15	3	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:75515816C>T	uc001xrd.1	-	2	759	c.543G>A	c.(541-543)ATG>ATA	p.M181I	MLH3_uc001xre.1_Missense_Mutation_p.M181I|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	181					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGGAAGGGTGCATGAGTGAGA	0.413								MMR					T	75515816	C	T	75515816	3	4	27	1	0	0	0	0	1	0	0	0	9618	710	25	2	3866	2	MLH3	14	75515816	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1893	75515816	31833724	6212	30163											
FLVCR2	55640	broad.mit.edu	37	chr14	76107378	76107378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaatcagaaggcatctcctCcggcctcctcaacatatctg	7	14	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:76107378C>T	uc001xrs.2	+	7	1692	c.1316C>T	c.(1315-1317)TCC>TTC	p.S439F	FLVCR2_uc010tvd.1_Missense_Mutation_p.S234F	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular	439	Helical; (Potential).			S -> F (in Ref. 3; BAA91126).	transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity				0				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGCATCTCCTCCGGCCTCCTC	0.502													T	76107378	C	T	76107378	3	4	27	1	0	0	0	0	1	0	0	0	5946	855	30	4	1342	4	FLVCR2	14	76107378	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	591562	76107378	31242162	6213	30164											
TGFB3	7043	broad.mit.edu	37	chr14	76429788	76429788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccttctgcttcttgaggCgccccagatctccacggcca	9	16	3	2	rs142069844		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:76429788C>T	uc001xsc.2	-	5	1653	c.797G>A	c.(796-798)CGC>CAC	p.R266H	TGFB3_uc001xsd.2_Missense_Mutation_p.R264H	NM_003239	NP_003230	P10600	TGFB3_HUMAN	transforming growth factor, beta 3 precursor	266					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0169)		CTTCTTGAGGCGCCCCAGATC	0.567													T	76429788	C	T	76429788	3	4	27	1	0	0	0	0	1	0	0	0	15816	768	27	1	453	1	TGFB3	14	76429788	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	322410	76429788	30919752	6214	30165											
TGFB3	7043	broad.mit.edu	37	chr14	76437504	76437504	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actcacgcacagtgtcagtgAcatcaaaggacagccactcg	9	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:76437504A>T	uc001xsc.2	-	3	1467	c.611T>A	c.(610-612)GTC>GAC	p.V204D	TGFB3_uc001xsd.2_Missense_Mutation_p.V202D	NM_003239	NP_003230	P10600	TGFB3_HUMAN	transforming growth factor, beta 3 precursor	204					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0169)		AGTGTCAGTGACATCAAAGGA	0.522													T	76437504	A	T	76437504	3	4	27	1	0	0	0	0	1	0	0	0	15816	275	10	5	647	5	TGFB3	14	76437504	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	7716	76437504	30912036	6215	30166											
C14orf4	64207	broad.mit.edu	37	chr14	77492964	77492964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagtggtccttcttgaagCgaacctcgtagggcgtgcag	15	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:77492964C>T	uc001xsy.2	-	1	2071	c.1172G>A	c.(1171-1173)CGC>CAC	p.R391H		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	chromosome 14 open reading frame 4	391						nucleus					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)		CTTCTTGAAGCGAACCTCGTA	0.637													T	77492964	C	T	77492964	3	4	27	1	0	0	0	0	1	0	0	0	1773	768	27	1	1222	1	C14orf4	14	77492964	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1055460	77492964	29856576	6216	30167											
TMEM63C	57156	broad.mit.edu	37	chr14	77715740	77715740	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacatggctgccgtctcccaGgccatctttgcgccactctt	8	17	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:77715740G>T	uc001xtf.2	+	21	2189	c.1977G>T	c.(1975-1977)CAG>CAT	p.Q659H	TMEM63C_uc010asq.1_Missense_Mutation_p.Q659H	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	659	Helical; (Potential).					integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCGTCTCCCAGGCCATCTTTG	0.552													T	77715740	G	T	77715740	3	4	27	1	0	0	0	0	1	0	0	0	16189	991	35	5	2051	5	TMEM63C	14	77715740	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	222776	77715740	29633800	6217	30168											
GSTZ1	2954	broad.mit.edu	37	chr14	77794333	77794333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccaaagaagagggccagcGtgcgtatgatttctgacctc	11	11	1	4	rs140540096	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:77794333G>A	uc001xtj.2	+	5	577	c.295G>A	c.(295-297)GTG>ATG	p.V99M	GSTZ1_uc001xtk.2_Intron|GSTZ1_uc010ass.2_Missense_Mutation_p.V44M|GSTZ1_uc001xtm.2_Missense_Mutation_p.V44M	NM_145870	NP_665877	O43708	MAAI_HUMAN	glutathione transferase zeta 1 isoform 1	99	GST C-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	GAGGGCCAGCGTGCGTATGAT	0.567													A	77794333	G	A	77794333	3	1	27	1	0	0	0	0	1	0	0	0	6848	1145	40	1	313	1	GSTZ1	14	77794333	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	78593	77794333	29555207	6218	30169											
GSTZ1	2954	broad.mit.edu	37	chr14	77797487	77797487	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcttggaggccttccaGgtgtctcacccctgccggca	12	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:77797487G>T	uc001xtj.2	+	9	882	c.600G>T	c.(598-600)CAG>CAT	p.Q200H	GSTZ1_uc001xtk.2_Missense_Mutation_p.Q158H|GSTZ1_uc010ass.2_Missense_Mutation_p.Q145H|GSTZ1_uc001xtm.2_Missense_Mutation_p.Q145H	NM_145870	NP_665877	O43708	MAAI_HUMAN	glutathione transferase zeta 1 isoform 1	200	GST C-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	AGGCCTTCCAGGTGTCTCACC	0.587													T	77797487	G	T	77797487	3	4	27	1	0	0	0	0	1	0	0	0	6848	991	35	5	634	5	GSTZ1	14	77797487	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3154	77797487	29552053	6219	30170											
ISM2	145501	broad.mit.edu	37	chr14	77942198	77942198	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgctgggcggccagtgTgctgctctccccagacagca	14	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:77942198T>C	uc001xtz.2	-	7	1530	c.1456A>G	c.(1456-1458)ACA>GCA	p.T486A	ISM2_uc001xua.2_3'UTR|ISM2_uc001xty.2_Missense_Mutation_p.T398A|ISM2_uc010tvl.1_Missense_Mutation_p.T405A	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	isthmin 2 homolog isoform 1	486	AMOP.					extracellular region				skin(1)	1						GCGGCCAGTGTGCTGCTCTCC	0.672													C	77942198	T	C	77942198	3	2	27	1	0	0	0	0	1	0	0	0	7861	1696	59	3	263	3	ISM2	14	77942198	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	144711	77942198	29407342	6220	30171											
ADCK1	57143	broad.mit.edu	37	chr14	78285417	78285417	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaagtacttggaccctaaTgactttggcgctgtcagggt	11	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:78285417T>C	uc001xui.2	+	2	195	c.96T>C	c.(94-96)AAT>AAC	p.N32N	ADCK1_uc010tvo.1_RNA|ADCK1_uc001xuj.2_Silent_p.N32N	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1 isoform a	32						extracellular region	ATP binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TGGACCCTAATGACTTTGGCG	0.522													C	78285417	T	C	78285417	2	2	27	1	0	0	0	0	0	0	0	1	288	1461	51	3		3	ADCK1	14	78285417	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	343219	78285417	29064123	6221	30172											
DIO2	1734	broad.mit.edu	37	chr14	80677662	80677662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgaggtcagcatgcgccGccactctccgcgagtggact	12	15	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:80677662G>A	uc010tvq.1	-	2	556	c.154C>T	c.(154-156)CGG>TGG	p.R52W	uc001xuw.1_5'Flank|DIO2_uc010tvp.1_Missense_Mutation_p.R52W|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_Missense_Mutation_p.R52W|DIO2_uc010tvr.1_Missense_Mutation_p.R52W|DIO2_uc010asy.2_Missense_Mutation_p.R52W	NM_000793	NP_000784	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II isoform a	52					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGCATGCGCCGCCACTCTCCG	0.587													A	80677662	G	A	80677662	3	1	27	1	0	0	0	0	1	0	0	0	4525	1086	38	1	787	1	DIO2	14	80677662	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2392245	80677662	26671878	6222	30173											
C14orf145	145508	broad.mit.edu	37	chr14	81259148	81259148	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcaacagtttcagattgttTctccaacgctcgttctaact	5	11	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:81259148T>A	uc001xux.2	-	13	1687	c.1516A>T	c.(1516-1518)AAA>TAA	p.K506*	C14orf145_uc010asz.1_RNA	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	506	Potential.					centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		TCAGATTGTTTCTCCAACGCT	0.418													A	81259148	T	A	81259148	4	1	27	1	0	0	0	0	0	1	0	0	1749	1792	62	5	1816	5	C14orf145	14	81259148	Nonsense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	581486	81259148	26090392	6223	30174											
TSHR	7253	broad.mit.edu	37	chr14	81574744	81574744	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaacaagaataaatacctgAcagttattgacaaagatgca	6	6	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:81574744A>G	uc001xvd.1	+	8	796	c.640A>G	c.(640-642)ACA>GCA	p.T214A	TSHR_uc001xvb.1_Missense_Mutation_p.T214A|TSHR_uc001xvc.2_Missense_Mutation_p.T214A|TSHR_uc010tvs.1_Missense_Mutation_p.T214A	NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	214	Extracellular (Potential).|LRR 5.				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TAAATACCTGACAGTTATTGA	0.244			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 						G	81574744	A	G	81574744	3	3	27	1	0	0	0	0	1	0	0	0	16619	275	10	3	670	3	TSHR	14	81574744	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	315596	81574744	25774796	6224	30175											
GTF2A1	2957	broad.mit.edu	37	chr14	81662516	81662516	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtataacctgttgttgtagaAccactgactgctgaggctga	11	8	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:81662516A>G	uc001xvf.1	-	6	980	c.548T>C	c.(547-549)GTT>GCT	p.V183A	GTF2A1_uc010atb.1_Missense_Mutation_p.V133A|GTF2A1_uc001xvg.1_Missense_Mutation_p.V144A	NM_015859	NP_056943	P52655	TF2AA_HUMAN	TFIIA alpha, p55 isoform 1	183					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0287)		TTGTTGTAGAACCACTGACTG	0.443													G	81662516	A	G	81662516	3	3	27	1	0	0	0	0	1	0	0	0	6852	43	2	3	598	3	GTF2A1	14	81662516	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	87772	81662516	25687024	6225	30176											
SEL1L	6400	broad.mit.edu	37	chr14	81943446	81943446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactgttcccaacagcagcGcaatgatggtcatgaggtaa	11	9	1	3	rs141918133		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:81943446G>A	uc010tvv.1	-	21	2372	c.2255C>T	c.(2254-2256)GCG>GTG	p.A752V		NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	752	Mediates retention to the endoplasmic reticulum.|Helical; (Potential).				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CAACAGCAGCGCAATGATGGT	0.512													A	81943446	G	A	81943446	3	1	27	1	0	0	0	0	1	0	0	0	14010	1087	38	1	133	1	SEL1L	14	81943446	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	280930	81943446	25406094	6226	30177											
SEL1L	6400	broad.mit.edu	37	chr14	81993276	81993276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctgcctgcagtagtatgGtcctttactgactcatctga	8	11	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:81993276G>A	uc010tvv.1	-	3	258	c.141C>T	c.(139-141)GAC>GAT	p.D47D	SEL1L_uc001xvo.3_Silent_p.D47D	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	47	Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CAGTAGTATGGTCCTTTACTG	0.373													A	81993276	G	A	81993276	2	1	27	1	0	0	0	0	0	0	0	1	14010	1252	44	4		4	SEL1L	14	81993276	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	49830	81993276	25356264	6227	30178											
FLRT2	23768	broad.mit.edu	37	chr14	86088684	86088684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacagccttctcaaatctgCgtaagctggaacggctggat	11	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:86088684C>T	uc001xvr.2	+	2	1593	c.826C>T	c.(826-828)CGT>TGT	p.R276C	FLRT2_uc010atd.2_Missense_Mutation_p.R276C	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	276	Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTCAAATCTGCGTAAGCTGGA	0.502													T	86088684	C	T	86088684	3	4	27	1	0	0	0	0	1	0	0	0	5939	768	27	1	828	1	FLRT2	14	86088684	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4095408	86088684	21260856	6228	30179											
FLRT2	23768	broad.mit.edu	37	chr14	86089822	86089822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacagcagcgtgccagaccTggagcactgccatacgtgac	11	14	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:86089822T>C	uc001xvr.2	+	2	2731	c.1964T>C	c.(1963-1965)CTG>CCG	p.L655P	FLRT2_uc010atd.2_Missense_Mutation_p.L655P	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	655	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GTGCCAGACCTGGAGCACTGC	0.512													C	86089822	T	C	86089822	3	2	27	1	0	0	0	0	1	0	0	0	5939	1580	55	3	1966	3	FLRT2	14	86089822	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1138	86089822	21259718	6229	30180											
GPR65	8477	broad.mit.edu	37	chr14	88477471	88477471	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagggagtgcttttctcAtgtacatgaatttttacagc	9	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:88477471A>G	uc001xvv.2	+	2	810	c.280A>G	c.(280-282)ATG>GTG	p.M94V		NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	94	Helical; Name=3; (Potential).				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity				0						TGCTTTTCTCATGTACATGAA	0.408													G	88477471	A	G	88477471	3	3	27	1	0	0	0	0	1	0	0	0	6706	217	8	3	282	3	GPR65	14	88477471	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2387649	88477471	18872069	6230	30181											
ZC3H14	79882	broad.mit.edu	37	chr14	89069238	89069239	+	Frame_Shift_Ins	INS	-	-	C													cgctggatggtgtccccagcINScccccaggatacatgtcaga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:89069237_89069238G>GC	uc001xww.3	+	11	1805_1806	c.1580_1581G>GC	c.(1579-1581)agcfs	p.S527fs	ZC3H14_uc010twd.2_Frame_Shift_Ins_p.S527fs|ZC3H14_uc010twe.2_Frame_Shift_Ins_p.S527fs|ZC3H14_uc001xwx.3_Intron|ZC3H14_uc010twf.2_Intron|ZC3H14_uc001xwy.3_Intron|ZC3H14_uc010twg.2_Intron|ZC3H14_uc001xxa.3_Frame_Shift_Ins_p.S72fs|ZC3H14_uc001xxc.3_Intron|ZC3H14_uc001xxb.3_Intron	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA.	527						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GGTGTCCCCAGCCCCCCAGGAT	0.47													C	89069239	-	C	89069238	7	5	27	1	0	1	1	0	0	0	0	0	17563	738	26	0	2016	0	ZC3H14	14	89069238	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	591767	89069238	18280302	6231	30182											
EML5	161436	broad.mit.edu	37	chr14	89123818	89123818	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgatggtgtaactgatttcAttctcccttgtaacatcact	6	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:89123818A>G	uc001xxg.2	-	28	4092	c.3906T>C	c.(3904-3906)AAT>AAC	p.N1302N	EML5_uc001xxf.2_Silent_p.N97N|EML5_uc001xxh.1_Silent_p.N441N	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	1302						cytoplasm|microtubule				ovary(3)	3						AACTGATTTCATTCTCCCTTG	0.313													G	89123818	A	G	89123818	2	3	27	1	0	0	0	0	0	0	0	1	5100	214	8	3		3	EML5	14	89123818	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	54580	89123818	18225722	6232	30183											
EML5	161436	broad.mit.edu	37	chr14	89171305	89171305	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactgttctttaagctgaggTagatcttctttgtaaacctt	7	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:89171305T>C	uc001xxg.2	-	14	2136	c.1950A>G	c.(1948-1950)CTA>CTG	p.L650L	EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	650						cytoplasm|microtubule				ovary(3)	3						TAAGCTGAGGTAGATCTTCTT	0.328													C	89171305	T	C	89171305	2	2	27	1	0	0	0	0	0	0	0	1	5100	1625	57	3		3	EML5	14	89171305	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	47487	89171305	18178235	6233	30184											
EML5	161436	broad.mit.edu	37	chr14	89206880	89206880	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcttaccaaagacacctcGttttggggtcagagcatttc	9	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:89206880G>A	uc001xxg.2	-	6	748	c.562C>T	c.(562-564)CGA>TGA	p.R188*		NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	188						cytoplasm|microtubule				ovary(3)	3						AAGACACCTCGTTTTGGGGTC	0.373													A	89206880	G	A	89206880	4	1	27	1	0	0	0	0	0	1	0	0	5100	1153	40	1	5527	1	EML5	14	89206880	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	35575	89206880	18142660	6234	30185											
TTC8	123016	broad.mit.edu	37	chr14	89338740	89338740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcaacaacaacaaccacGccgaggcctacaacaacctg	7	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:89338740G>A	uc010ath.2	+	13	1473	c.1339G>A	c.(1339-1341)GCC>ACC	p.A447T	TTC8_uc001xxl.2_Missense_Mutation_p.A192T|TTC8_uc010ati.2_Missense_Mutation_p.A233T|TTC8_uc001xxm.2_Missense_Mutation_p.A391T|TTC8_uc010atj.2_Missense_Mutation_p.A166T|TTC8_uc001xxi.2_Missense_Mutation_p.A431T|TTC8_uc001xxj.2_Missense_Mutation_p.A421T|TTC8_uc001xxk.2_Missense_Mutation_p.A391T	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8 isoform B	457	TPR 8.				cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding				0						CAACAACCACGCCGAGGCCTA	0.532									Bardet-Biedl_syndrome				A	89338740	G	A	89338740	3	1	27	1	0	0	0	0	1	0	0	0	16711	1087	38	1	1341	1	TTC8	14	89338740	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	131860	89338740	18010800	6235	30186											
TDP1	55775	broad.mit.edu	37	chr14	90442125	90442125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacttctttttcatcctagGcaaagttggatattgcgttt	8	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:90442125G>A	uc001xxy.2	+	7	1056	c.757G>A	c.(757-759)GCA>ACA	p.A253T	TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.A253T|TDP1_uc010atn.2_Missense_Mutation_p.A253T|TDP1_uc001xya.2_Intron|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.A253T	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	253					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TTCATCCTAGGCAAAGTTGGA	0.343								Repair_of_DNA-protein_crosslinks					A	90442125	G	A	90442125	3	1	27	1	0	0	0	0	1	0	0	0	15725	1217	42	2	775	2	TDP1	14	90442125	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1103385	90442125	16907415	6236	30187											
C14orf102	55051	broad.mit.edu	37	chr14	90754929	90754929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactgttcagttttgcaaaCacctgttcgtatatctgcac	7	10	2	0	rs142936620	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:90754929C>T	uc001xyi.1	-	11	2821	c.2790G>A	c.(2788-2790)GTG>GTA	p.V930V	C14orf102_uc010atp.1_Silent_p.V435V|C14orf102_uc001xyj.1_Silent_p.V699V|C14orf102_uc001xyk.1_Silent_p.V122V	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	930							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		GTTTTGCAAACACCTGTTCGT	0.502													T	90754929	C	T	90754929	2	4	27	1	0	0	0	0	0	0	0	1	1735	465	17	4		4	C14orf102	14	90754929	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	312804	90754929	16594611	6237	30188											
TTC7B	145567	broad.mit.edu	37	chr14	91211165	91211165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttggagatacaggagtgCgatgtcccctgctttctcat	10	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:91211165C>T	uc001xyp.2	-	4	669	c.547G>A	c.(547-549)GCA>ACA	p.A183T		NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	183							binding			ovary(2)	2		Melanoma(154;0.222)				TACAGGAGTGCGATGTCCCCT	0.438													T	91211165	C	T	91211165	3	4	27	1	0	0	0	0	1	0	0	0	16710	768	27	1	2052	1	TTC7B	14	91211165	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	456236	91211165	16138375	6238	30189											
TTC7B	145567	broad.mit.edu	37	chr14	91247091	91247091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggcctcacctttggtagCgtaggcttctgcgatcaccc	11	14	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:91247091C>T	uc001xyp.2	-	3	558	c.436G>A	c.(436-438)GCT>ACT	p.A146T		NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	146							binding			ovary(2)	2		Melanoma(154;0.222)				CCTTTGGTAGCGTAGGCTTCT	0.597													T	91247091	C	T	91247091	3	4	27	1	0	0	0	0	1	0	0	0	16710	768	27	1	2167	1	TTC7B	14	91247091	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	35926	91247091	16102449	6239	30190											
C14orf159	80017	broad.mit.edu	37	chr14	91639673	91639673	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatgctggcttctgctgccCtctggtggtcacgatgaggc	13	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:91639673C>A	uc001xzb.2	+	8	1250	c.482C>A	c.(481-483)CCT>CAT	p.P161H	C14orf159_uc010atv.1_RNA|C14orf159_uc001xyy.2_Missense_Mutation_p.P166H|C14orf159_uc001xyx.2_Missense_Mutation_p.P161H|C14orf159_uc001xyw.2_Missense_Mutation_p.P166H|C14orf159_uc001xzc.2_Missense_Mutation_p.P161H|C14orf159_uc001xza.2_Missense_Mutation_p.P166H|C14orf159_uc001xyv.2_Missense_Mutation_p.P166H|C14orf159_uc001xyz.2_Missense_Mutation_p.P37H|C14orf159_uc001xze.2_Missense_Mutation_p.P161H	NM_001102366	NP_001095836	Q7Z3D6	CN159_HUMAN	hypothetical protein LOC80017 isoform a	161						mitochondrion				central_nervous_system(2)|ovary(1)	3		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TTCTGCTGCCCTCTGGTGGTC	0.507											OREG0022869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	91639673	C	A	91639673	3	1	27	1	0	0	0	0	1	0	0	0	1755	681	24	5	511	5	C14orf159	14	91639673	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	392582	91639673	15709867	6240	30191											
GPR68	8111	broad.mit.edu	37	chr14	91701388	91701388	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggagttgtctgcagtgatgtTccccatctttgggcctgaag	13	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:91701388T>A	uc001xzg.2	-	2	348	c.7A>T	c.(7-9)AAC>TAC	p.N3Y	GPR68_uc001xzh.2_Missense_Mutation_p.N13Y	NM_003485	NP_003476	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	3	Extracellular (Potential).				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)	1		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		GCAGTGATGTTCCCCATCTTT	0.572													A	91701388	T	A	91701388	3	1	27	1	0	0	0	0	1	0	0	0	6707	1783	62	5	1094	5	GPR68	14	91701388	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	61715	91701388	15648152	6241	30192											
CCDC88C	440193	broad.mit.edu	37	chr14	91804375	91804375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggccttgtagaagtccaCgtcgtgcagcttctccttgc	12	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:91804375C>T	uc010aty.2	-	10	1123	c.1024G>A	c.(1024-1026)GTG>ATG	p.V342M		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	342	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				TAGAAGTCCACGTCGTGCAGC	0.607													T	91804375	C	T	91804375	3	4	27	1	0	0	0	0	1	0	0	0	2865	536	19	1	5146	1	CCDC88C	14	91804375	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	102987	91804375	15545165	6242	30193											
CATSPERB	79820	broad.mit.edu	37	chr14	92102891	92102891	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctaaggaggtgtgctgtggGgcaagcgcagtctcaaagcc	15	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:92102891G>T	uc001xzs.1	-	17	1760	c.1620C>A	c.(1618-1620)GCC>GCA	p.A540A	CATSPERB_uc010aub.1_Silent_p.A62A	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	540					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.A540G(1)		breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TGTGCTGTGGGGCAAGCGCAG	0.378													T	92102891	G	T	92102891	2	4	27	1	0	0	0	0	0	0	0	1	2691	1219	43	5		5	CATSPERB	14	92102891	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	298516	92102891	15246649	6243	30194											
TC2N	123036	broad.mit.edu	37	chr14	92258726	92258726	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacagaaatttttgaaggTggtgttatatccaaagagta	9	4	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:92258726T>C	uc001xzu.3	-	9	1223	c.1032A>G	c.(1030-1032)CCA>CCG	p.P344P	TC2N_uc001xzt.3_Silent_p.P344P|TC2N_uc010auc.2_Intron|TC2N_uc001xzv.3_Silent_p.P344P	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	344						nucleus				upper_aerodigestive_tract(1)	1				COAD - Colon adenocarcinoma(157;0.218)		TTTTTGAAGGTGGTGTTATAT	0.373													C	92258726	T	C	92258726	2	2	27	1	0	0	0	0	0	0	0	1	15662	1683	59	3		3	TC2N	14	92258726	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	155835	92258726	15090814	6244	30195											
FBLN5	10516	broad.mit.edu	37	chr14	92353637	92353637	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgcacgcaggggttctcGgtggcacactcgttcacatc	12	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:92353637G>A	uc001xzx.3	-	7	1112	c.639C>T	c.(637-639)ACC>ACT	p.T213T	FBLN5_uc010aud.2_Silent_p.T218T|FBLN5_uc010aue.2_Silent_p.T254T	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	fibulin 5 precursor	213	EGF-like 4; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		all_cancers(154;0.0722)				AGGGGTTCTCGGTGGCACACT	0.527													A	92353637	G	A	92353637	2	1	27	1	0	0	0	0	0	0	0	1	5700	1103	39	1		1	FBLN5	14	92353637	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	94911	92353637	14995903	6245	30196											
TRIP11	9321	broad.mit.edu	37	chr14	92471782	92471782	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cggtctttttcctctatggtCtgtcttaaaatttcattttt	5	8	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:92471782C>T	uc001xzy.2	-	11	3326	c.2538G>A	c.(2536-2538)CAG>CAA	p.Q846Q	TRIP11_uc010auf.1_Silent_p.Q582Q	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	846	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		CCTCTATGGTCTGTCTTAAAA	0.363			T	PDGFRB	AML								T	92471782	C	T	92471782	2	4	27	1	0	0	0	0	0	0	0	1	16552	912	32	4		4	TRIP11	14	92471782	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	118145	92471782	14877758	6246	30197											
NDUFB1	4707	broad.mit.edu	37	chr14	92583937	92583937	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaatcccatagggacaagAacatgaacccagtggtcccg	9	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:92583937A>C	uc001yaf.2	-	2	218	c.186T>G	c.(184-186)GTT>GTG	p.V62V		NM_004545	NP_004536	O75438	NDUB1_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	15	Helical; (Potential).				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)	NADH(DB00157)	TAGGGACAAGAACATGAACCC	0.358													C	92583937	A	C	92583937	2	2	27	1	0	0	0	0	0	0	0	1	10278	233	9	5		5	NDUFB1	14	92583937	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	112155	92583937	14765603	6247	30198											
RIN3	79890	broad.mit.edu	37	chr14	93043784	93043784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctgaacgaaagctcggCcgaggtgctcgaatacacca	10	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:93043784C>T	uc001yap.2	+	3	481	c.329C>T	c.(328-330)GCC>GTC	p.A110V	RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Missense_Mutation_p.A35V	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	110	SH2.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				GAAAGCTCGGCCGAGGTGCTC	0.527													T	93043784	C	T	93043784	3	4	27	1	0	0	0	0	1	0	0	0	13373	739	26	2	339	2	RIN3	14	93043784	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	459847	93043784	14305756	6248	30199											
RIN3	79890	broad.mit.edu	37	chr14	93154499	93154499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcgcagcgagcccaagCgcgacttccactttgtctac	10	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:93154499C>T	uc001yap.2	+	10	3012	c.2860C>T	c.(2860-2862)CGC>TGC	p.R954C	RIN3_uc010auk.2_Missense_Mutation_p.R616C|RIN3_uc001yaq.2_Missense_Mutation_p.R879C	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	954	Ras-associating.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				CGAGCCCAAGCGCGACTTCCA	0.716													T	93154499	C	T	93154499	3	4	27	1	0	0	0	0	1	0	0	0	13373	768	27	1	2898	1	RIN3	14	93154499	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	110715	93154499	14195041	6249	30200											
LGMN	5641	broad.mit.edu	37	chr14	93176081	93176081	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagatcattggtgttcatcAgtttccttttcatgatggtg	9	8	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:93176081A>G	uc001yav.2	-	12	1282	c.956T>C	c.(955-957)CTG>CCG	p.L319P	LGMN_uc001yat.2_Missense_Mutation_p.L319P|LGMN_uc001yau.2_Missense_Mutation_p.L319P|LGMN_uc001yaw.2_Missense_Mutation_p.L319P|LGMN_uc010aul.2_Missense_Mutation_p.L200P|LGMN_uc001yax.2_Missense_Mutation_p.L319P|LGMN_uc001yay.2_Missense_Mutation_p.L319P	NM_001008530	NP_001008530	Q99538	LGMN_HUMAN	legumain preproprotein	319					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			skin(1)	1		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		GGTGTTCATCAGTTTCCTTTT	0.557													G	93176081	A	G	93176081	3	3	27	1	0	0	0	0	1	0	0	0	8755	188	7	3	361	3	LGMN	14	93176081	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	21582	93176081	14173459	6250	30201											
LGMN	5641	broad.mit.edu	37	chr14	93180773	93180773	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atccatggtcagtgaagtaaAtgaacacgtgatcctggggg	13	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:93180773A>C	uc001yav.2	-	7	754	c.428T>G	c.(427-429)ATT>AGT	p.I143S	LGMN_uc001yat.2_Missense_Mutation_p.I143S|LGMN_uc001yau.2_Missense_Mutation_p.I143S|LGMN_uc001yaw.2_Missense_Mutation_p.I143S|LGMN_uc010aul.2_Missense_Mutation_p.I24S|LGMN_uc001yax.2_Missense_Mutation_p.I143S|LGMN_uc001yay.2_Missense_Mutation_p.I143S	NM_001008530	NP_001008530	Q99538	LGMN_HUMAN	legumain preproprotein	143					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			skin(1)	1		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		AGTGAAGTAAATGAACACGTG	0.408											OREG0022880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	93180773	A	C	93180773	3	2	27	1	0	0	0	0	1	0	0	0	8755	101	4	5	909	5	LGMN	14	93180773	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4692	93180773	14168767	6251	30202											
GOLGA5	9950	broad.mit.edu	37	chr14	93263793	93263793	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccatcatgtcttggtTtgttgatcttgctggaaagg	12	7	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:93263793T>C	uc001yaz.1	+	2	193	c.11T>C	c.(10-12)TTT>TCT	p.F4S		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	4	Cytoplasmic (Potential).				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		ATGTCTTGGTTTGTTGATCTT	0.393			T	RET	papillary thyroid								C	93263793	T	C	93263793	3	2	27	1	0	0	0	0	1	0	0	0	6556	1841	64	3	13	3	GOLGA5	14	93263793	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	83020	93263793	14085747	6252	30203											
MOAP1	64112	broad.mit.edu	37	chr14	93650419	93650419	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgttctcatccctccTgaacatccttccaagcagtc	4	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:93650419T>C	uc001ybj.2	-	3	539	c.169A>G	c.(169-171)AGG>GGG	p.R57G	C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	57					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			skin(2)|ovary(1)	3		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		tcatccctcctgaacatcctt	0													C	93650419	T	C	93650419	3	2	27	1	0	0	0	0	1	0	0	0	9680	1579	55	3	890	3	MOAP1	14	93650419	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	386626	93650419	13699121	6253	30204											
BTBD7	55727	broad.mit.edu	37	chr14	93760752	93760752	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agtcctccattccaaactctCctgtataaaggtagtgtaac	6	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:93760752C>A	uc001ybo.2	-	3	940	c.614G>T	c.(613-615)GGA>GTA	p.G205V	BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_Missense_Mutation_p.G120V|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_Missense_Mutation_p.G120V|BTBD7_uc001ybr.2_Missense_Mutation_p.G205V	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	205	BTB 1.									pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TCCAAACTCTCCTGTATAAAG	0.398													A	93760752	C	A	93760752	3	1	27	1	0	0	0	0	1	0	0	0	1546	855	30	5	2895	5	BTBD7	14	93760752	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	110333	93760752	13588788	6254	30205											
BTBD7	55727	broad.mit.edu	37	chr14	93761249	93761249	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctatacaactttgattcGcaaccatagccttgctgaga	8	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:93761249G>A	uc001ybo.2	-	3	443	c.117C>T	c.(115-117)TGC>TGT	p.C39C	BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_5'UTR|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_5'UTR|BTBD7_uc001ybr.2_Silent_p.C39C	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	39										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACTTTGATTCGCAACCATAGC	0.343													A	93761249	G	A	93761249	2	1	27	1	0	0	0	0	0	0	0	1	1546	1079	38	1		1	BTBD7	14	93761249	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	497	93761249	13588291	6255	30206											
KIAA1409	57578	broad.mit.edu	37	chr14	94069685	94069685	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccgccagaagagtgtacgTtccctgagggacagcgtgaa	13	10	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:94069685T>C	uc001ybv.1	+	23	3227	c.3144T>C	c.(3142-3144)CGT>CGC	p.R1048R	KIAA1409_uc001ybs.1_Silent_p.R1048R	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1225						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		AGAGTGTACGTTCCCTGAGGG	0.527													C	94069685	T	C	94069685	2	2	27	1	0	0	0	0	0	0	0	1	8230	1712	60	3		3	KIAA1409	14	94069685	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	308436	94069685	13279855	6256	30207											
ASB2	51676	broad.mit.edu	37	chr14	94420793	94420793	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttcaaggcctcttcatcGccatccttgatggcctttat	7	13	4	1	rs146382240	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:94420793G>A	uc001ycc.1	-	2	693	c.204C>T	c.(202-204)GGC>GGT	p.G68G	ASB2_uc001ycd.2_Silent_p.G116G|ASB2_uc001yce.1_Silent_p.G14G	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box-containing protein	68	ANK 1.				intracellular signal transduction					ovary(1)|pancreas(1)	2		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CCTCTTCATCGCCATCCTTGA	0.602													A	94420793	G	A	94420793	2	1	27	1	0	0	0	0	0	0	0	1	1023	1074	38	1		1	ASB2	14	94420793	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	351108	94420793	12928747	6257	30208											
IFI27L1	122509	broad.mit.edu	37	chr14	94568278	94568278	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccattgccaacgggggCggagttgctgctggcagtct	16	11	1	0	rs150611249	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:94568278C>T	uc001ycl.2	+	4	388	c.180C>T	c.(178-180)GGC>GGT	p.G60G	IFI27L1_uc001yck.2_Silent_p.G60G	NM_206949	NP_996832	Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	60	Helical; (Potential).					integral to membrane					0						CCAACGGGGGCGGAGTTGCTG	0.587													T	94568278	C	T	94568278	2	4	27	1	0	0	0	0	0	0	0	1	7513	755	27	1		1	IFI27L1	14	94568278	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	147485	94568278	12781262	6258	30209											
SERPINA6	866	broad.mit.edu	37	chr14	94780965	94780965	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcagccagagaagacaGgtgtacaggaggagtggcat	18	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:94780965G>T	uc001ycv.2	-	2	125	c.21C>A	c.(19-21)ACC>ACA	p.T7T	SERPINA6_uc010auv.2_RNA	NM_001756	NP_001747	P08185	CBG_HUMAN	corticosteroid binding globulin precursor	7					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			skin(3)|ovary(1)|central_nervous_system(1)	5		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AGAGAAGACAGGTGTACAGGA	0.502													T	94780965	G	T	94780965	2	4	27	1	0	0	0	0	0	0	0	1	14093	987	35	5		5	SERPINA6	14	94780965	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	212687	94780965	12568575	6259	30210											
DICER1	23405	broad.mit.edu	37	chr14	95562437	95562437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggctgttgaaattctccCgagtagggcacagggccttt	13	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:95562437C>T	uc001ydw.2	-	24	5002	c.4820G>A	c.(4819-4821)CGG>CAG	p.R1607Q	DICER1_uc010avh.1_Missense_Mutation_p.R505Q|DICER1_uc001ydv.2_Missense_Mutation_p.R1597Q|DICER1_uc001ydx.2_Missense_Mutation_p.R1607Q|DICER1_uc001ydy.1_Missense_Mutation_p.R459Q	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1607					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GAAATTCTCCCGAGTAGGGCA	0.512			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				T	95562437	C	T	95562437	3	4	27	1	0	0	0	0	1	0	0	0	4521	652	23	1	968	1	DICER1	14	95562437	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	781472	95562437	11787103	6260	30211											
CLMN	79789	broad.mit.edu	37	chr14	95690184	95690184	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatctttaacttctagaggTgggttgcactttgaaagaga	10	5	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:95690184T>C	uc001yef.2	-	3	269	c.153A>G	c.(151-153)CCA>CCG	p.P51P		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	51	Actin-binding.|CH 1.					integral to membrane	actin binding				0				Epithelial(152;0.193)		CTTCTAGAGGTGGGTTGCACT	0.348													C	95690184	T	C	95690184	2	2	27	1	0	0	0	0	0	0	0	1	3542	1683	59	3		3	CLMN	14	95690184	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	127747	95690184	11659356	6261	30212											
C14orf49	161176	broad.mit.edu	37	chr14	95923565	95923565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttgcagttccgccccagGcagccattcaccttctccac	7	18	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:95923565G>A	uc001yei.3	-	4	753	c.738C>T	c.(736-738)TGC>TGT	p.C246C	C14orf49_uc010avi.2_Silent_p.C246C|C14orf49_uc001yej.1_Silent_p.C246C	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	246	Spectrin 1.|Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		TCCGCCCCAGGCAGCCATTCA	0.617													A	95923565	G	A	95923565	2	1	27	1	0	0	0	0	0	0	0	1	1776	1195	42	2		2	C14orf49	14	95923565	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	233381	95923565	11425975	6262	30213											
TCL1B	9623	broad.mit.edu	37	chr14	96157234	96157234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttctgggaaatagcagaCcatggccaggcaagtgtgtg	14	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:96157234C>T	uc001yez.2	+	2	366	c.324C>T	c.(322-324)GAC>GAT	p.D108D	TCL1B_uc001yew.2_RNA|TCL1B_uc001yex.2_RNA|TCL1B_uc010avj.2_RNA|TCL1B_uc001yfa.2_Silent_p.D108D	NM_004918	NP_004909	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	108										ovary(1)	1		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		AAATAGCAGACCATGGCCAGG	0.642													T	96157234	C	T	96157234	2	4	27	1	0	0	0	0	0	0	0	1	15702	506	18	4		4	TCL1B	14	96157234	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	233669	96157234	11192306	6263	30214											
BDKRB2	624	broad.mit.edu	37	chr14	96707571	96707571	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcgcctcggcatcctctcCagctgccaggacgagcgcat	10	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:96707571C>A	uc010avm.1	+	3	1102	c.906C>A	c.(904-906)TCC>TCA	p.S302S	BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Silent_p.S275S|BDKRB2_uc001yfg.2_Silent_p.S302S	NM_000623	NP_000614	P30411	BKRB2_HUMAN	bradykinin receptor B2	302	Extracellular (Potential).				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			ovary(3)|breast(1)|kidney(1)	5		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		GCATCCTCTCCAGCTGCCAGG	0.572													A	96707571	C	A	96707571	2	1	27	1	0	0	0	0	0	0	0	1	1393	581	21	5		5	BDKRB2	14	96707571	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	550337	96707571	10641969	6264	30215											
ATG2B	55102	broad.mit.edu	37	chr14	96761477	96761477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgccttggcaaactgcagGtgacatcagctccaggagac	11	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:96761477G>A	uc001yfi.2	-	36	5611	c.5246C>T	c.(5245-5247)ACC>ATC	p.T1749I		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	1749										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CAAACTGCAGGTGACATCAGC	0.378													A	96761477	G	A	96761477	3	1	27	1	0	0	0	0	1	0	0	0	1094	1261	44	4	1018	4	ATG2B	14	96761477	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	53906	96761477	10588063	6265	30216											
PAPOLA	10914	broad.mit.edu	37	chr14	96998729	96998729	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgacaacttcaggttaacTctgagagctatcaaactatg	7	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:96998729T>C	uc001yfq.2	+	8	879	c.669T>C	c.(667-669)ACT>ACC	p.T223T	PAPOLA_uc001yfp.2_Silent_p.T223T|PAPOLA_uc001yfr.2_Silent_p.T223T|PAPOLA_uc010twv.1_Silent_p.T223T|PAPOLA_uc010avp.2_5'UTR	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	223				CRVTDEILHLVPNIDNFRLTLRAIKLWAKRHNIYS -> MR KPTSFCVLQFLSDISCFYTSFVLKLFIAILLTQ (in Ref. 2; CAD61935).	mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TCAGGTTAACTCTGAGAGCTA	0.308													C	96998729	T	C	96998729	2	2	27	1	0	0	0	0	0	0	0	1	11429	1538	54	3		3	PAPOLA	14	96998729	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	237252	96998729	10350811	6266	30217											
PAPOLA	10914	broad.mit.edu	37	chr14	97010567	97010567	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacctcagtgttgatctcacCtatgatattcagtctttcac	5	11	5	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:97010567C>A	uc001yfq.2	+	15	1581	c.1371C>A	c.(1369-1371)ACC>ACA	p.T457T	PAPOLA_uc001yfr.2_Silent_p.T457T|PAPOLA_uc010twv.1_Silent_p.T457T|PAPOLA_uc010avp.2_Silent_p.T207T	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	457					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TTGATCTCACCTATGATATTC	0.363													A	97010567	C	A	97010567	2	1	27	1	0	0	0	0	0	0	0	1	11429	668	24	5		5	PAPOLA	14	97010567	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	11838	97010567	10338973	6267	30218											
BCL11B	64919	broad.mit.edu	37	chr14	99697807	99697807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggagagcgcccagggcaCgcagaggtgaagtgatcacg	18	10	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:99697807C>T	uc001yga.2	-	3	782	c.515G>A	c.(514-516)CGT>CAT	p.R172H	BCL11B_uc001ygb.2_Intron	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	172						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCCCAGGGCACGCAGAGGTGA	0.701			T	TLX3	T-ALL								T	99697807	C	T	99697807	3	4	27	1	0	0	0	0	1	0	0	0	1364	536	19	1	2177	1	BCL11B	14	99697807	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2687240	99697807	7651733	6268	30219											
EML1	2009	broad.mit.edu	37	chr14	100317246	100317246	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagaccgcattgcttcactgGagcagagagtccagatgcaa	11	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:100317246G>T	uc001ygs.2	+	2	193	c.124G>T	c.(124-126)GAG>TAG	p.E42*	EML1_uc010avt.1_Nonsense_Mutation_p.E29*|EML1_uc010tww.1_Nonsense_Mutation_p.E11*|EML1_uc001ygq.2_Nonsense_Mutation_p.E42*|EML1_uc001ygr.2_Nonsense_Mutation_p.E42*	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	42						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGCTTCACTGGAGCAGAGAGT	0.512													T	100317246	G	T	100317246	4	4	27	1	0	0	0	0	0	1	0	0	5096	1175	41	5	130	5	EML1	14	100317246	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	619439	100317246	7032294	6269	30220											
EML1	2009	broad.mit.edu	37	chr14	100363529	100363529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacaacctgtacttgcttcCgacgggagagaccgtctact	9	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:100363529C>T	uc001ygs.2	+	7	794	c.725C>T	c.(724-726)CCG>CTG	p.P242L	EML1_uc010avt.1_Missense_Mutation_p.P229L|EML1_uc010tww.1_Missense_Mutation_p.P230L|EML1_uc001ygq.2_Missense_Mutation_p.P261L|EML1_uc001ygr.2_Missense_Mutation_p.P261L	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	242						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TACTTGCTTCCGACGGGAGAG	0.483													T	100363529	C	T	100363529	3	4	27	1	0	0	0	0	1	0	0	0	5096	652	23	1	812	1	EML1	14	100363529	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	46283	100363529	6986011	6270	30221											
EML1	2009	broad.mit.edu	37	chr14	100367326	100367326	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaatactctccacgtcattGgaataggtttttttgaccga	8	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:100367326G>T	uc001ygs.2	+	9	1027	c.958G>T	c.(958-960)GGA>TGA	p.G320*	EML1_uc010avt.1_Nonsense_Mutation_p.G307*|EML1_uc010tww.1_Nonsense_Mutation_p.G308*|EML1_uc001ygq.2_Nonsense_Mutation_p.G339*|EML1_uc001ygr.2_Nonsense_Mutation_p.G339*	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	320						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CCACGTCATTGGAATAGGTTT	0.438													T	100367326	G	T	100367326	4	4	27	1	0	0	0	0	0	1	0	0	5096	1349	47	5	1053	5	EML1	14	100367326	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3797	100367326	6982214	6271	30222											
EML1	2009	broad.mit.edu	37	chr14	100406438	100406438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacaagcatcatgcagtggCgcgtcatttagtacccaccg	9	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:100406438C>T	uc001ygs.2	+	22	2506	c.2437C>T	c.(2437-2439)CGC>TGC	p.R813C	EML1_uc010tww.1_Missense_Mutation_p.R801C|EML1_uc001ygr.2_Missense_Mutation_p.R832C	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	813	WD 11.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CATGCAGTGGCGCGTCATTTA	0.532													T	100406438	C	T	100406438	3	4	27	1	0	0	0	0	1	0	0	0	5096	768	27	1	2584	1	EML1	14	100406438	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	39112	100406438	6943102	6272	30223											
WDR25	79446	broad.mit.edu	37	chr14	100950346	100950346	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtaggaacccagctatttaGtggtcgaagtgactttagaa	11	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:100950346G>T	uc010avx.2	+	4	1079	c.986G>T	c.(985-987)AGT>ATT	p.S329I	WDR25_uc001yhm.2_Missense_Mutation_p.S321I|WDR25_uc001yhn.2_Missense_Mutation_p.S329I|WDR25_uc010avy.2_RNA|WDR25_uc001yho.2_Missense_Mutation_p.S72I	NM_001161476	NP_001154948	Q64LD2	WDR25_HUMAN	WD repeat domain 25	329	WD 2.										0		Melanoma(154;0.212)				CAGCTATTTAGTGGTCGAAGT	0.383													T	100950346	G	T	100950346	3	4	27	1	0	0	0	0	1	0	0	0	17279	1029	36	5	996	5	WDR25	14	100950346	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	543908	100950346	6399194	6273	30224											
DLK1	8788	broad.mit.edu	37	chr14	101198408	101198408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctcctcggccccctgtGccaacaacaggacctgcgtg	10	18	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:101198408G>A	uc001yhs.3	+	4	445	c.292G>A	c.(292-294)GCC>ACC	p.A98T	DLK1_uc001yhu.3_Missense_Mutation_p.A98T	NM_003836	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog precursor	98	Extracellular (Potential).|EGF-like 3.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				ovary(2)|breast(1)|skin(1)	4		Melanoma(154;0.155)				GGCCCCCTGTGCCAACAACAG	0.632													A	101198408	G	A	101198408	3	1	27	1	0	0	0	0	1	0	0	0	4564	1319	46	2	306	2	DLK1	14	101198408	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	248062	101198408	6151132	6274	30225											
DYNC1H1	1778	broad.mit.edu	37	chr14	102453856	102453856	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttccttggaaacttgtatgTatgaccataagacattctcg	8	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:102453856T>C	uc001yks.2	+	9	2769	c.2605T>C	c.(2605-2607)TAT>CAT	p.Y869H		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	869	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						AACTTGTATGTATGACCATAA	0.383													C	102453856	T	C	102453856	3	2	27	1	0	0	0	0	1	0	0	0	4841	1638	57	3	2639	3	DYNC1H1	14	102453856	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1255448	102453856	4895684	6275	30226											
DYNC1H1	1778	broad.mit.edu	37	chr14	102461592	102461592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaccttcatcacctatgtGcagtctttgaaacggaagat	9	9	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:102461592G>A	uc001yks.2	+	15	3683	c.3519G>A	c.(3517-3519)GTG>GTA	p.V1173V		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1173	Potential.|Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TCACCTATGTGCAGTCTTTGA	0.408													A	102461592	G	A	102461592	2	1	27	1	0	0	0	0	0	0	0	1	4841	1306	46	2		2	DYNC1H1	14	102461592	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	7736	102461592	4887948	6276	30227											
DYNC1H1	1778	broad.mit.edu	37	chr14	102467600	102467600	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctaacccttggccaaatctGggatgttgacttgcagaaaa	10	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:102467600G>T	uc001yks.2	+	20	4468	c.4304G>T	c.(4303-4305)TGG>TTG	p.W1435L		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1435	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						GGCCAAATCTGGGATGTTGAC	0.443													T	102467600	G	T	102467600	3	4	27	1	0	0	0	0	1	0	0	0	4841	1357	47	5	4382	5	DYNC1H1	14	102467600	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	6008	102467600	4881940	6277	30228											
DYNC1H1	1778	broad.mit.edu	37	chr14	102467905	102467905	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaatacttatgaactagacTtggttaattatcagaacaag	8	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:102467905T>C	uc001yks.2	+	21	4593	c.4429T>C	c.(4429-4431)TTG>CTG	p.L1477L		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1477	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TGAACTAGACTTGGTTAATTA	0.443													C	102467905	T	C	102467905	2	2	27	1	0	0	0	0	0	0	0	1	4841	1606	56	3		3	DYNC1H1	14	102467905	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	305	102467905	4881635	6278	30229											
DYNC1H1	1778	broad.mit.edu	37	chr14	102474611	102474611	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcggatgctctcggctgtgTcccagcaggtgcagtgcata	14	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:102474611T>C	uc001yks.2	+	29	6078	c.5914T>C	c.(5914-5916)TCC>CCC	p.S1972P		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1972	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CTCGGCTGTGTCCCAGCAGGT	0.547													C	102474611	T	C	102474611	3	2	27	1	0	0	0	0	1	0	0	0	4841	1667	58	3	6028	3	DYNC1H1	14	102474611	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	6706	102474611	4874929	6279	30230											
DYNC1H1	1778	broad.mit.edu	37	chr14	102483497	102483497	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgatcactactgcgagTacaggcgcacacctaatggg	10	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:102483497T>C	uc001yks.2	+	39	8085	c.7921T>C	c.(7921-7923)TAC>CAC	p.Y2641H	DYNC1H1_uc001ykt.1_Missense_Mutation_p.Y132H	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2641	AAA 3 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CTACTGCGAGTACAGGCGCAC	0.468													C	102483497	T	C	102483497	3	2	27	1	0	0	0	0	1	0	0	0	4841	1638	57	3	8075	3	DYNC1H1	14	102483497	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	8886	102483497	4866043	6280	30231											
TECPR2	9895	broad.mit.edu	37	chr14	102901049	102901049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggggaagacatccaacCcattggcccccaaagcactt	9	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:102901049C>T	uc001ylw.1	+	9	2043	c.1895C>T	c.(1894-1896)CCC>CTC	p.P632L	TECPR2_uc010awl.2_Missense_Mutation_p.P632L|TECPR2_uc010txx.1_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	632							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						GACATCCAACCCATTGGCCCC	0.562													T	102901049	C	T	102901049	3	4	27	1	0	0	0	0	1	0	0	0	15741	623	22	4	1925	4	TECPR2	14	102901049	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	417552	102901049	4448491	6281	30232											
TECPR2	9895	broad.mit.edu	37	chr14	102918744	102918744	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcaggaagcttcctgtgGctgtgccagagcagcaagga	14	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:102918744G>A	uc001ylw.1	+	16	3568	c.3420G>A	c.(3418-3420)TGG>TGA	p.W1140*	TECPR2_uc010awl.2_Nonsense_Mutation_p.W1140*|TECPR2_uc010txx.1_Nonsense_Mutation_p.W303*	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1140							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						GCTTCCTGTGGCTGTGCCAGA	0.622													A	102918744	G	A	102918744	4	1	27	1	0	0	0	0	0	1	0	0	15741	1212	42	2	3478	2	TECPR2	14	102918744	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	17695	102918744	4430796	6282	30233											
CDC42BPB	9578	broad.mit.edu	37	chr14	103452834	103452834	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatacctacagtgccatcaTcattcatcttcaaacatgat	3	11	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:103452834T>C	uc001ymi.1	-	6	912	c.680A>G	c.(679-681)GAT>GGT	p.D227G		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	227	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AGTGCCATCATCATTCATCTT	0.368													C	103452834	T	C	103452834	3	2	27	1	0	0	0	0	1	0	0	0	3073	1435	50	3	4583	3	CDC42BPB	14	103452834	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	534090	103452834	3896706	6283	30234											
XRCC3	7517	broad.mit.edu	37	chr14	104165201	104165201	+	Frame_Shift_Del	DEL	G	G	-													atcgtgtaggaacaggaggaGgggggcaggtggggggcaga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:104165201delG	uc001yny.3	-	10	1355	c.975delC	c.(973-975)CCCfs	p.P325fs	KLC1_uc010tyf.1_Intron|KLC1_uc001yno.2_Intron|KLC1_uc001yns.2_Intron|XRCC3_uc001ynx.3_Frame_Shift_Del_p.P325fs|XRCC3_uc001ynz.3_Frame_Shift_Del_p.P325fs|XRCC3_uc001yoa.3_Frame_Shift_Del_p.P325fs	NM_005432	NP_005423	O43542	XRCC3_HUMAN	X-ray repair cross complementing protein 3	325					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		AACAGGAGGAGGGGGGCAGGT	0.692								Direct_reversal_of_damage|Homologous_recombination					-	104165201	G	-	104165201	7	5	27	1	0	1	0	1	0	0	0	0	17451	987	35	0	69	0	XRCC3	14	104165201	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	712367	104165201	3184339	6284	30235											
TDRD9	122402	broad.mit.edu	37	chr14	104472992	104472992	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttatggttagcggcagctcTttctttgaagaatttttttg	9	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:104472992T>C	uc001yom.3	+	17	1919	c.1889T>C	c.(1888-1890)CTT>CCT	p.L630P	TDRD9_uc001yon.3_Missense_Mutation_p.L368P	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	630					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GCGGCAGCTCTTTCTTTGAAG	0.333													C	104472992	T	C	104472992	3	2	27	1	0	0	0	0	1	0	0	0	15733	1609	56	3	1955	3	TDRD9	14	104472992	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	307791	104472992	2876548	6285	30236											
TDRD9	122402	broad.mit.edu	37	chr14	104492062	104492062	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttttgctgattttgataaAcaacgctactttagagctca	6	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:104492062A>G	uc001yom.3	+	26	2910	c.2880A>G	c.(2878-2880)AAA>AAG	p.K960K	TDRD9_uc001yon.3_Silent_p.K698K	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	960	Tudor.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATTTTGATAAACAACGCTACT	0.448													G	104492062	A	G	104492062	2	3	27	1	0	0	0	0	0	0	0	1	15733	40	2	3		3	TDRD9	14	104492062	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	19070	104492062	2857478	6286	30237											
KIF26A	26153	broad.mit.edu	37	chr14	104639002	104639002	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcctttggccacatgagcCtgggtaagcacccttgcccc	9	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:104639002C>A	uc001yos.3	+	7	1417	c.1417C>A	c.(1417-1419)CTG>ATG	p.L473M		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	473	ATP (Potential).|Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCACATGAGCCTGGGTAAGCA	0.632													A	104639002	C	A	104639002	3	1	27	1	0	0	0	0	1	0	0	0	8294	680	24	5	1443	5	KIF26A	14	104639002	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	146940	104639002	2710538	6287	30238											
ADSSL1	122622	broad.mit.edu	37	chr14	105204736	105204736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggggtggtcatccacttgCcaggcttgtttgaggaagca	14	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:105204736C>T	uc001ypd.2	+	3	393	c.319C>T	c.(319-321)CCA>TCA	p.P107S	INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.P150S|ADSSL1_uc001ypf.2_RNA	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1 isoform 2	107					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	p.P150S(1)		ovary(1)|central_nervous_system(1)	2		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	CATCCACTTGCCAGGCTTGTT	0.517													T	105204736	C	T	105204736	3	4	27	1	0	0	0	0	1	0	0	0	348	739	26	2	654	2	ADSSL1	14	105204736	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	565734	105204736	2144804	6288	30239											
ADSSL1	122622	broad.mit.edu	37	chr14	105207003	105207003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcccggacaggcctccGcatctgcgacctcctgtcag	11	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:105207003G>A	uc001ypd.2	+	6	616	c.542G>A	c.(541-543)CGC>CAC	p.R181H	INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.R224H|ADSSL1_uc001ypf.2_RNA	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1 isoform 2	181					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(1)|central_nervous_system(1)	2		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	ACAGGCCTCCGCATCTGCGAC	0.572													A	105207003	G	A	105207003	3	1	27	1	0	0	0	0	1	0	0	0	348	1087	38	1	889	1	ADSSL1	14	105207003	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2267	105207003	2142537	6289	30240											
AKT1	207	broad.mit.edu	37	chr14	105238712	105238712	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagccgcaccttcttctcgTacacgtgctgccacacgata	8	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:105238712T>C	uc001ypk.2	-	12	1804	c.1250A>G	c.(1249-1251)TAC>TGC	p.Y417C	INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Missense_Mutation_p.Y417C|AKT1_uc010axa.2_Missense_Mutation_p.Y417C|AKT1_uc001ypm.2_Missense_Mutation_p.Y417C|AKT1_uc001ypn.2_Missense_Mutation_p.Y417C|AKT1_uc001ypj.2_5'Flank|AKT1_uc010tyk.1_Missense_Mutation_p.Y355C	NM_005163	NP_005154	P31749	AKT1_HUMAN	AKT1 kinase	417	AGC-kinase C-terminal.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	134		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	CTTCTTCTCGTACACGTGCTG	0.612		1	Mis		breast|colorectal|ovarian|NSCLC								C	105238712	T	C	105238712	3	2	27	1	0	0	0	0	1	0	0	0	478	1638	57	3	204	3	AKT1	14	105238712	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	31709	105238712	2110828	6290	30241											
PLD4	122618	broad.mit.edu	37	chr14	105397263	105397263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctttgatggggtgcccaCcactgcctacttctcagtaa	8	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:105397263C>T	uc001ypu.1	+	7	1043	c.902C>T	c.(901-903)ACC>ATC	p.T301I	PLD4_uc010tyl.1_Missense_Mutation_p.T308I	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	phospholipase D4	301					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|skin(1)	2		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	GGGGTGCCCACCACTGCCTAC	0.617													T	105397263	C	T	105397263	3	4	27	1	0	0	0	0	1	0	0	0	12048	507	18	4	924	4	PLD4	14	105397263	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	158551	105397263	1952277	6291	30242											
AHNAK2	113146	broad.mit.edu	37	chr14	105405613	105405613	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcagggaaggagaaccttGgtaccattaatttggggaat	15	5	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:105405613G>T	uc010axc.1	-	7	16295	c.16175C>A	c.(16174-16176)CCA>CAA	p.P5392Q	AHNAK2_uc001ypx.2_Missense_Mutation_p.P5292Q	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5392						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)			GGAGAACCTTGGTACCATTAA	0.473													T	105405613	G	T	105405613	3	4	27	1	0	0	0	0	1	0	0	0	415	1348	47	5	1216	5	AHNAK2	14	105405613	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	8350	105405613	1943927	6292	30243											
AHNAK2	113146	broad.mit.edu	37	chr14	105408953	105408953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaggtcaccctccagccGcacactgtccagcttggctc	10	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:105408953G>A	uc010axc.1	-	7	12955	c.12835C>T	c.(12835-12837)CGG>TGG	p.R4279W	AHNAK2_uc001ypx.2_Missense_Mutation_p.R4179W	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4279						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)			CCCTCCAGCCGCACACTGTCC	0.612													A	105408953	G	A	105408953	3	1	27	1	0	0	0	0	1	0	0	0	415	1086	38	1	4556	1	AHNAK2	14	105408953	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3340	105408953	1940587	6293	30244											
AHNAK2	113146	broad.mit.edu	37	chr14	105410623	105410623	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactgggcatctccaccttgGgcaggtgctctttgaggccg	13	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:105410623G>T	uc010axc.1	-	7	11285	c.11165C>A	c.(11164-11166)CCC>CAC	p.P3722H	AHNAK2_uc001ypx.2_Missense_Mutation_p.P3622H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3722						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)			CTCCACCTTGGGCAGGTGCTC	0.632													T	105410623	G	T	105410623	3	4	27	1	0	0	0	0	1	0	0	0	415	1232	43	5	6226	5	AHNAK2	14	105410623	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1670	105410623	1938917	6294	30245											
AHNAK2	113146	broad.mit.edu	37	chr14	105411049	105411049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcaggtccagcttggggCccttaacatctatctggggg	12	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:105411049C>T	uc010axc.1	-	7	10859	c.10739G>A	c.(10738-10740)GGC>GAC	p.G3580D	AHNAK2_uc001ypx.2_Missense_Mutation_p.G3480D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3580						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)			CAGCTTGGGGCCCTTAACATC	0.622													T	105411049	C	T	105411049	3	4	27	1	0	0	0	0	1	0	0	0	415	739	26	2	6652	2	AHNAK2	14	105411049	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	426	105411049	1938491	6295	30246											
AHNAK2	113146	broad.mit.edu	37	chr14	105411899	105411899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtcacatccttgtcggCcagggacaggtccccctcca	11	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:105411899C>T	uc010axc.1	-	7	10009	c.9889G>A	c.(9889-9891)GCC>ACC	p.A3297T	AHNAK2_uc001ypx.2_Missense_Mutation_p.A3197T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3297						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)			TCCTTGTCGGCCAGGGACAGG	0.622													T	105411899	C	T	105411899	3	4	27	1	0	0	0	0	1	0	0	0	415	739	26	2	7502	2	AHNAK2	14	105411899	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	850	105411899	1937641	6296	30247											
AHNAK2	113146	broad.mit.edu	37	chr14	105413160	105413160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgggagtttcacgtccacCtggccagcctggacctccag	11	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:105413160C>T	uc010axc.1	-	7	8748	c.8628G>A	c.(8626-8628)CAG>CAA	p.Q2876Q	AHNAK2_uc001ypx.2_Silent_p.Q2776Q	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2876						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)			TCACGTCCACCTGGCCAGCCT	0.622													T	105413160	C	T	105413160	2	4	27	1	0	0	0	0	0	0	0	1	415	680	24	4		4	AHNAK2	14	105413160	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1261	105413160	1936380	6297	30248											
AHNAK2	113146	broad.mit.edu	37	chr14	105413926	105413926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatccagctttgctctcGgggcctggacgtccacctcc	9	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:105413926G>A	uc010axc.1	-	7	7982	c.7862C>T	c.(7861-7863)CCG>CTG	p.P2621L	AHNAK2_uc001ypx.2_Missense_Mutation_p.P2521L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2621						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)			CTTTGCTCTCGGGGCCTGGAC	0.607													A	105413926	G	A	105413926	3	1	27	1	0	0	0	0	1	0	0	0	415	1116	39	1	9529	1	AHNAK2	14	105413926	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	766	105413926	1935614	6298	30249											
AHNAK2	113146	broad.mit.edu	37	chr14	105416427	105416427	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgacgtccacctccacgctGggcagagacacctccacgtc	9	18	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:105416427G>A	uc010axc.1	-	7	5481	c.5361C>T	c.(5359-5361)CCC>CCT	p.P1787P	AHNAK2_uc001ypx.2_Silent_p.P1687P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1787						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)			CCTCCACGCTGGGCAGAGACA	0.657													A	105416427	G	A	105416427	2	1	27	1	0	0	0	0	0	0	0	1	415	1335	47	4		4	AHNAK2	14	105416427	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2501	105416427	1933113	6299	30250											
AHNAK2	113146	broad.mit.edu	37	chr14	105419623	105419623	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggggtctggacgctgaggTcagtggtcttgaggtccccc	16	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:105419623T>C	uc010axc.1	-	7	2285	c.2165A>G	c.(2164-2166)GAC>GGC	p.D722G	AHNAK2_uc001ypx.2_Missense_Mutation_p.D622G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	722						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)			GACGCTGAGGTCAGTGGTCTT	0.652													C	105419623	T	C	105419623	3	2	27	1	0	0	0	0	1	0	0	0	415	1667	58	3	15226	3	AHNAK2	14	105419623	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3196	105419623	1929917	6300	30251											
GPR132	29933	broad.mit.edu	37	chr14	105517541	105517541	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttggcgggaatggtccgtGgccagcacgtagataatggg	16	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:105517541G>T	uc001yqd.2	-	4	1832	c.933C>A	c.(931-933)GCC>GCA	p.A311A	GPR132_uc001yqc.2_Silent_p.A123A|GPR132_uc001yqe.2_Silent_p.A302A	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	311	Helical; Name=7; (Potential).				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		AATGGTCCGTGGCCAGCACGT	0.582													T	105517541	G	T	105517541	2	4	27	1	0	0	0	0	0	0	0	1	6642	1335	47	5		5	GPR132	14	105517541	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	97918	105517541	1831999	6301	30252											
BTBD6	90135	broad.mit.edu	37	chr14	105716945	105716945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttccagttccagtgctcctCggacagcaccaacgggactg	10	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr14:105716945C>T	uc010tyq.1	+	5	1502	c.1394C>T	c.(1393-1395)TCG>TTG	p.S465L	BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc010axg.1_Intron|BRF1_uc001yqp.2_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank	NM_033271	NP_150374	Q96KE9	BTBD6_HUMAN	BTB domain protein BDPL	465						cytoplasmic mRNA processing body					0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		CAGTGCTCCTCGGACAGCACC	0.627													T	105716945	C	T	105716945	3	4	27	1	0	0	0	0	1	0	0	0	1545	893	31	1	1408	1	BTBD6	14	105716945	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	199404	105716945	1632595	6302	30253											
CYFIP1	23191	broad.mit.edu	37	chr15	22956546	22956546	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccatattggacatagaaaaaTttcatcgagagtcattcttc	6	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:22956546T>A	uc001yus.2	+	16	1887	c.1783T>A	c.(1783-1785)TTT>ATT	p.F595I	CYFIP1_uc001yut.2_Missense_Mutation_p.F595I|CYFIP1_uc010aya.1_Missense_Mutation_p.F623I|CYFIP1_uc001yuu.2_Missense_Mutation_p.F164I	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	595					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CATAGAAAAATTTCATCGAGA	0.453													A	22956546	T	A	22956546	3	1	27	1	0	0	0	0	1	0	0	0	4137	1493	52	5	2222	5	CYFIP1	15	22956546	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08		22956546	79574846	6303	30254											
CYFIP1	23191	broad.mit.edu	37	chr15	23000163	23000163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttcttgggcagcagcggCgttttgctgtgctggatttc	13	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:23000163C>T	uc001yus.2	+	30	3621	c.3517C>T	c.(3517-3519)CGT>TGT	p.R1173C	CYFIP1_uc001yut.2_Missense_Mutation_p.R1173C|CYFIP1_uc001yuu.2_Missense_Mutation_p.R742C|CYFIP1_uc001yuv.2_Missense_Mutation_p.R367C	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	1173					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	p.R1173H(1)		ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCAGCAGCGGCGTTTTGCTGT	0.448													T	23000163	C	T	23000163	3	4	27	1	0	0	0	0	1	0	0	0	4137	768	27	1	4012	1	CYFIP1	15	23000163	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	43617	23000163	79531229	6304	30255											
NIPA2	81614	broad.mit.edu	37	chr15	23006481	23006481	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accaatgacatcgtcaacagGcatatcttgccactccttaa	5	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:23006481G>T	uc001yux.2	-	8	1436	c.823C>A	c.(823-825)CCT>ACT	p.P275T	NIPA2_uc001yuy.2_Missense_Mutation_p.P275T|NIPA2_uc001yuz.2_Missense_Mutation_p.P275T|NIPA2_uc001yva.2_Missense_Mutation_p.P256T|NIPA2_uc001yvb.2_Missense_Mutation_p.P275T|NIPA2_uc010ayb.2_Missense_Mutation_p.P256T	NM_030922	NP_112184	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome	275	Extracellular (Potential).					early endosome|integral to membrane|plasma membrane				haematopoietic_and_lymphoid_tissue(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		TCGTCAACAGGCATATCTTGC	0.358													T	23006481	G	T	23006481	3	4	27	1	0	0	0	0	1	0	0	0	10423	1203	42	5	263	5	NIPA2	15	23006481	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	6318	23006481	79524911	6305	30256											
NIPA2	81614	broad.mit.edu	37	chr15	23006661	23006661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaatccaagccaggggatGccgcagcacaggcttccctg	12	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:23006661G>A	uc001yux.2	-	8	1256	c.643C>T	c.(643-645)CAT>TAT	p.H215Y	NIPA2_uc001yuy.2_Missense_Mutation_p.H215Y|NIPA2_uc001yuz.2_Missense_Mutation_p.H215Y|NIPA2_uc001yva.2_Missense_Mutation_p.H196Y|NIPA2_uc001yvb.2_Missense_Mutation_p.H215Y|NIPA2_uc010ayb.2_Missense_Mutation_p.H196Y	NM_030922	NP_112184	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome	215	Extracellular (Potential).					early endosome|integral to membrane|plasma membrane				haematopoietic_and_lymphoid_tissue(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GCCAGGGGATGCCGCAGCACA	0.502													A	23006661	G	A	23006661	3	1	27	1	0	0	0	0	1	0	0	0	10423	1319	46	2	443	2	NIPA2	15	23006661	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	180	23006661	79524731	6306	30257											
NDN	4692	broad.mit.edu	37	chr15	23931990	23931990	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagctgccgatgacatctttCaccatgtctggaaaccagat	8	11	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:23931990C>T	uc001ywk.2	-	1	461	c.375G>A	c.(373-375)GTG>GTA	p.V125V		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	125	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TGACATCTTTCACCATGTCTG	0.602									Prader-Willi_syndrome				T	23931990	C	T	23931990	2	4	27	1	0	0	0	0	0	0	0	1	10247	813	29	4		4	NDN	15	23931990	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	925329	23931990	78599402	6307	30258											
SNRPN	6638	broad.mit.edu	37	chr15	25223574	25223574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccacctcccccaggaatgCgtccaccaagaccttagcat	7	17	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:25223574C>T	uc001ywp.1	+	13	1596	c.706C>T	c.(706-708)CGT>TGT	p.R236C	SNRPN_uc001ywq.1_Missense_Mutation_p.R236C|SNRPN_uc001ywr.1_Missense_Mutation_p.R236C|SNRPN_uc001yws.1_Missense_Mutation_p.R236C|SNRPN_uc001ywt.1_Missense_Mutation_p.R236C|SNRPN_uc001ywv.1_Missense_Mutation_p.R239C|SNRPN_uc001yww.1_Missense_Mutation_p.R236C|SNRPN_uc001ywx.1_Missense_Mutation_p.R236C|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	NM_022807	NP_073718	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	236	Repeat-rich region.|				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CCCAGGAATGCGTCCACCAAG	0.458									Prader-Willi_syndrome				T	25223574	C	T	25223574	3	4	27	1	0	0	0	0	1	0	0	0	14870	768	27	1	732	1	SNRPN	15	25223574	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1291584	25223574	77307818	6308	30259											
UBE3A	7337	broad.mit.edu	37	chr15	25616489	25616489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaacaaattcagataattagGatctcgagagtatacattgt	8	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:25616489G>A	uc001zaq.2	-	4	841	c.841C>T	c.(841-843)CCT>TCT	p.P281S	uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.P258S|UBE3A_uc001zas.2_Missense_Mutation_p.P278S|UBE3A_uc001zat.2_Missense_Mutation_p.P258S	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	281					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		AGATAATTAGGATCTCGAGAG	0.358													A	25616489	G	A	25616489	3	1	27	1	0	0	0	0	1	0	0	0	16876	1174	41	4	1818	4	UBE3A	15	25616489	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	392915	25616489	76914903	6309	30260											
UBE3A	7337	broad.mit.edu	37	chr15	25616842	25616842	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttccggaagctctgtaccAatgcctcagcactagaaaaa	7	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:25616842A>G	uc001zaq.2	-	4	488	c.488T>C	c.(487-489)TTG>TCG	p.L163S	uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.L140S|UBE3A_uc001zas.2_Missense_Mutation_p.L160S|UBE3A_uc001zat.2_Missense_Mutation_p.L140S	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	163					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GCTCTGTACCAATGCCTCAGC	0.363													G	25616842	A	G	25616842	3	3	27	1	0	0	0	0	1	0	0	0	16876	131	5	3	2171	3	UBE3A	15	25616842	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	353	25616842	76914550	6310	30261											
ATP10A	57194	broad.mit.edu	37	chr15	25926195	25926195	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggcggcgtcggccatgttAaaccagaacgttcgtggccg	14	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:25926195A>G	uc010ayu.2	-	18	3625	c.3519T>C	c.(3517-3519)TTT>TTC	p.F1173F		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1173	Helical; (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CGGCCATGTTAAACCAGAACG	0.458													G	25926195	A	G	25926195	2	3	27	1	0	0	0	0	0	0	0	1	1116	359	13	3		3	ATP10A	15	25926195	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	309353	25926195	76605197	6311	30262											
ATP10A	57194	broad.mit.edu	37	chr15	25966960	25966960	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactgcagctgcgagtctgTttcttcgtcatacaactgca	9	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:25966960T>C	uc010ayu.2	-	7	1313	c.1207A>G	c.(1207-1209)ACA>GCA	p.T403A		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	403	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGCGAGTCTGTTTCTTCGTCA	0.413													C	25966960	T	C	25966960	3	2	27	1	0	0	0	0	1	0	0	0	1116	1725	60	3	3352	3	ATP10A	15	25966960	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	40765	25966960	76564432	6312	30263											
ATP10A	57194	broad.mit.edu	37	chr15	25981215	25981215	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atactcacatgcagccgcgaAacctactcaggtcgttgttt	8	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:25981215A>C	uc010ayu.2	-	3	834	c.728T>G	c.(727-729)TTT>TGT	p.F243C		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	243	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCAGCCGCGAAACCTACTCAG	0.453													C	25981215	A	C	25981215	3	2	27	1	0	0	0	0	1	0	0	0	1116	14	1	5	3847	5	ATP10A	15	25981215	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	14255	25981215	76550177	6313	30264											
GABRA5	2558	broad.mit.edu	37	chr15	27182338	27182338	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctcatacagatgcgtAccctaattctgaagtcgttt	6	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:27182338A>G	uc001zbd.1	+	9	926	c.587A>G	c.(586-588)TAC>TGC	p.Y196C	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	196	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACAGATGCGTACCCTAATTCT	0.498													G	27182338	A	G	27182338	3	3	27	1	0	0	0	0	1	0	0	0	6164	391	14	3	609	3	GABRA5	15	27182338	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1201123	27182338	75349054	6314	30265											
HERC2	8924	broad.mit.edu	37	chr15	28380769	28380769	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatggattcaagcaatgTtggggtggacaccgactctg	13	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:28380769T>C	uc001zbj.2	-	79	12191	c.12085A>G	c.(12085-12087)ACA>GCA	p.T4029A		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4029	RCC1 14.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCAAGCAATGTTGGGGTGGAC	0.463													C	28380769	T	C	28380769	3	2	27	1	0	0	0	0	1	0	0	0	7058	1725	60	3	2479	3	HERC2	15	28380769	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1198431	28380769	74150623	6315	30266											
HERC2	8924	broad.mit.edu	37	chr15	28386919	28386919	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcgtcttgctctcttttaAaaatgtcatggctctcatgc	7	10	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:28386919A>G	uc001zbj.2	-	77	11880	c.11774T>C	c.(11773-11775)TTT>TCT	p.F3925S		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3925					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTCTCTTTTAAAAATGTCATG	0.378													G	28386919	A	G	28386919	3	3	27	1	0	0	0	0	1	0	0	0	7058	14	1	3	2798	3	HERC2	15	28386919	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	6150	28386919	74144473	6316	30267											
HERC2	8924	broad.mit.edu	37	chr15	28422651	28422651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttaaagccgtcgcgtgccgGccacctgcaacattcacaga	10	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:28422651G>A	uc001zbj.2	-	60	9274	c.9168C>T	c.(9166-9168)GGC>GGT	p.G3056G		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3056	RCC1 7.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCGCGTGCCGGCCACCTGCAA	0.453													A	28422651	G	A	28422651	2	1	27	1	0	0	0	0	0	0	0	1	7058	1190	42	2		2	HERC2	15	28422651	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	35732	28422651	74108741	6317	30268											
HERC2	8924	broad.mit.edu	37	chr15	28441714	28441714	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttttccattggcactgaaAgctaggacagaacagaaatc	8	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:28441714A>G	uc001zbj.2	-	51	8119	c.8013T>C	c.(8011-8013)GCT>GCC	p.A2671A	HERC2_uc001zbk.1_Silent_p.A206A	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2671					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGGCACTGAAAGCTAGGACAG	0.413													G	28441714	A	G	28441714	2	3	27	1	0	0	0	0	0	0	0	1	7058	86	3	3		3	HERC2	15	28441714	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	19063	28441714	74089678	6318	30269											
HERC2	8924	broad.mit.edu	37	chr15	28525254	28525254	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagaaataccgctgctttTccacttaactttgacattct	5	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:28525254T>C	uc001zbj.2	-	5	608	c.502A>G	c.(502-504)AAA>GAA	p.K168E	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	168					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCGCTGCTTTTCCACTTAACT	0.418													C	28525254	T	C	28525254	3	2	27	1	0	0	0	0	1	0	0	0	7058	1792	62	3	14358	3	HERC2	15	28525254	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	83540	28525254	74006138	6319	30270											
NDNL2	56160	broad.mit.edu	37	chr15	29561679	29561679	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctggctcctgggcccCacggcgggggcggcctgggc	18	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:29561679C>A	uc001zco.2	-	1	339	c.231G>T	c.(229-231)GTG>GTT	p.V77V	FAM189A1_uc010azk.1_Intron	NM_138704	NP_619649	Q96MG7	MAGG1_HUMAN	necdin-like 2	77					regulation of growth	cytoplasm|nucleus					0		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TCCTgggccccacggcggggg	0.522											OREG0032044	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	A	29561679	C	A	29561679	2	1	27	1	0	0	0	0	0	0	0	1	10248	581	21	5		5	NDNL2	15	29561679	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1036425	29561679	72969713	6320	30271											
MTMR10	54893	broad.mit.edu	37	chr15	31234015	31234015	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgatctgggcctcgggaacCcagcggaagtagcacagttt	13	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:31234015C>G	uc001zfh.1	-	16	2090	c.1992G>C	c.(1990-1992)TGG>TGC	p.W664C	MTMR15_uc001zff.2_3'UTR|MTMR15_uc001zfe.2_3'UTR|MTMR10_uc010ubk.1_Missense_Mutation_p.W78C|MTMR10_uc001zfg.1_Missense_Mutation_p.W245C|MTMR10_uc010azx.1_Missense_Mutation_p.W416C|MTMR10_uc001zfi.1_3'UTR	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	664							phosphatase activity			ovary(1)	1		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CCTCGGGAACCCAGCGGAAGT	0.547													G	31234015	C	G	31234015	3	3	27	1	0	0	0	0	1	0	0	0	9939	624	22	5	345	5	MTMR10	15	31234015	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1672336	31234015	71297377	6321	30272											
TRPM1	4308	broad.mit.edu	37	chr15	31354888	31354888	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taactagaagctgctccctgAgggactcatttattattctg	8	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:31354888A>G	uc001zfm.2	-	8	1045	c.917T>C	c.(916-918)CTC>CCC	p.L306P	TRPM1_uc010azy.2_Missense_Mutation_p.L213P|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	306	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTGCTCCCTGAGGGACTCATT	0.328													G	31354888	A	G	31354888	3	3	27	1	0	0	0	0	1	0	0	0	16582	304	11	3	3974	3	TRPM1	15	31354888	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	120873	31354888	71176504	6322	30273											
TRPM1	4308	broad.mit.edu	37	chr15	31358307	31358307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttctgcagggagatgtgCttttccagcagccttcgcag	11	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:31358307C>T	uc001zfm.2	-	6	824	c.696G>A	c.(694-696)AAG>AAA	p.K232K	TRPM1_uc010azy.2_Silent_p.K145K|TRPM1_uc001zfl.2_RNA|uc010ubm.1_5'Flank|MIR211_hsa-mir-211|MI0000287_5'Flank	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	232	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGGAGATGTGCTTTTCCAGCA	0.552													T	31358307	C	T	31358307	2	4	27	1	0	0	0	0	0	0	0	1	16582	796	28	2		2	TRPM1	15	31358307	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3419	31358307	71173085	6323	30274											
KLF13	51621	broad.mit.edu	37	chr15	31664305	31664305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actaccgcacacacacgggcGagaagaagttcagctgcccc	10	15	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:31664305G>A	uc001zfo.2	+	2	1003	c.670G>A	c.(670-672)GAG>AAG	p.E224K		NM_015995	NP_057079	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	224					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding				0		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		ACACACGGGCGAGAAGAAGTT	0.657													A	31664305	G	A	31664305	3	1	27	1	0	0	0	0	1	0	0	0	8341	1059	37	1	676	1	KLF13	15	31664305	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	305998	31664305	70867087	6324	30275											
SCG5	6447	broad.mit.edu	37	chr15	32936006	32936006	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatgaatcttgtgggcccCcagagcattgaaggtattta	11	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:32936006C>T	uc001zha.2	+	2	330	c.213C>T	c.(211-213)CCC>CCT	p.P71P	SCG5_uc001zgz.2_Silent_p.P71P	NM_001144757	NP_001138229	P05408	7B2_HUMAN	secretogranin V isoform 1	71					intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion	extracellular region|stored secretory granule	enzyme inhibitor activity|GTP binding|unfolded protein binding				0		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		TTGTGGGCCCCCAGAGCATTG	0.403													T	32936006	C	T	32936006	2	4	27	1	0	0	0	0	0	0	0	1	13893	610	22	4		4	SCG5	15	32936006	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1271701	32936006	69595386	6325	30276											
FMN1	342184	broad.mit.edu	37	chr15	33192193	33192193	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taaatacccgacttttgacaTccttgagtttgggcagaatt	8	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:33192193T>A	uc001zhf.3	-	10	2972	c.2972A>T	c.(2971-2973)GAT>GTT	p.D991V		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	1214	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		ACTTTTGACATCCTTGAGTTT	0.348													A	33192193	T	A	33192193	3	1	27	1	0	0	0	0	1	0	0	0	5949	1435	50	5	650	5	FMN1	15	33192193	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	256187	33192193	69339199	6326	30277											
FMN1	342184	broad.mit.edu	37	chr15	33357235	33357235	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagacagcttgaagtctgCcaggagtcctgtcatcctgc	11	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:33357235C>A	uc001zhf.3	-	2	1415	c.1415G>T	c.(1414-1416)GGC>GTC	p.G472V	FMN1_uc001zhg.2_Missense_Mutation_p.G472V	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	695	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TTGAAGTCTGCCAGGAGTCCT	0.478													A	33357235	C	A	33357235	3	1	27	1	0	0	0	0	1	0	0	0	5949	739	26	5	2239	5	FMN1	15	33357235	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	165042	33357235	69174157	6327	30278											
FMN1	342184	broad.mit.edu	37	chr15	33358942	33358942	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtttgtggtactccagggcCgctctggctctcttggtcag	14	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:33358942C>A	uc001zhf.3	-	1	1144	c.1144G>T	c.(1144-1146)GGC>TGC	p.G382C	FMN1_uc001zhg.2_Missense_Mutation_p.G382C	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	479	Microtubule-binding (By similarity).|Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		ACTCCAGGGCCGCTCTGGCTC	0.572													A	33358942	C	A	33358942	3	1	27	1	0	0	0	0	1	0	0	0	5949	652	23	5	2514	5	FMN1	15	33358942	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1707	33358942	69172450	6328	30279											
FMN1	342184	broad.mit.edu	37	chr15	33359555	33359555	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggttttctttggactcctgAgatggctcagataaaacacc	10	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:33359555A>C	uc001zhf.3	-	1	531	c.531T>G	c.(529-531)TCT>TCG	p.S177S	FMN1_uc001zhg.2_Silent_p.S177S	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TGGACTCCTGAGATGGCTCAG	0.512													C	33359555	A	C	33359555	2	2	27	1	0	0	0	0	0	0	0	1	5949	291	11	5		5	FMN1	15	33359555	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	613	33359555	69171837	6329	30280											
RYR3	6263	broad.mit.edu	37	chr15	33895365	33895365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagtcgcggagggctcagCccagtacaagaagtggtact	16	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:33895365C>T	uc001zhi.2	+	18	2034	c.1964C>T	c.(1963-1965)GCC>GTC	p.A655V	RYR3_uc010bar.2_Missense_Mutation_p.A655V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	655	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGGGCTCAGCCCAGTACAAG	0.532													T	33895365	C	T	33895365	3	4	27	1	0	0	0	0	1	0	0	0	13770	739	26	2	2034	2	RYR3	15	33895365	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	535810	33895365	68636027	6330	30281											
RYR3	6263	broad.mit.edu	37	chr15	34140608	34140608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggggcagtgggaccgcttGgtgatcaacacaccgtgagt	15	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:34140608G>A	uc001zhi.2	+	94	13684	c.13614G>A	c.(13612-13614)TTG>TTA	p.L4538L	RYR3_uc010bar.2_Silent_p.L4533L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4538					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGGACCGCTTGGTGATCAACA	0.473													A	34140608	G	A	34140608	2	1	27	1	0	0	0	0	0	0	0	1	13770	1339	47	4		4	RYR3	15	34140608	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	245243	34140608	68390784	6331	30282											
CHRM5	1133	broad.mit.edu	37	chr15	34355236	34355236	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctggcttgtgacctttgGcttgcactggactacgtggc	13	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:34355236G>A	uc001zhk.1	+	3	988	c.318G>A	c.(316-318)TGG>TGA	p.W106*	CHRM5_uc001zhl.1_Nonsense_Mutation_p.W106*	NM_012125	NP_036257	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	106	Helical; Name=3; (By similarity).				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	GTGACCTTTGGCTTGCACTGG	0.512													A	34355236	G	A	34355236	4	1	27	1	0	0	0	0	0	1	0	0	3380	1212	42	2	320	2	CHRM5	15	34355236	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	214628	34355236	68176156	6332	30283											
SLC12A6	9990	broad.mit.edu	37	chr15	34537953	34537953	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcagcctcggtgcacctgTgaggctctgaagtccagccc	12	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:34537953T>C	uc001zhw.2	-	13	1929	c.1765A>G	c.(1765-1767)ACA>GCA	p.T589A	SLC12A6_uc001zhv.2_Missense_Mutation_p.T538A|SLC12A6_uc001zhx.2_Missense_Mutation_p.T574A|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.T530A|SLC12A6_uc001zib.2_Missense_Mutation_p.T580A|SLC12A6_uc001zic.2_Missense_Mutation_p.T589A|SLC12A6_uc010bau.2_Missense_Mutation_p.T589A|SLC12A6_uc001zid.2_Missense_Mutation_p.T530A|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.T401A	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	589					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GGTGCACCTGTGAGGCTCTGA	0.478													C	34537953	T	C	34537953	3	2	27	1	0	0	0	0	1	0	0	0	14387	1696	59	3	1739	3	SLC12A6	15	34537953	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	182717	34537953	67993439	6333	30284											
C15orf55	256646	broad.mit.edu	37	chr15	34648162	34648162	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagaggctctgcccctttgTtggcagggaggcttccagcc	13	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:34648162T>C	uc001zif.2	+	7	2024	c.1869T>C	c.(1867-1869)TGT>TGC	p.C623C	C15orf55_uc010ucc.1_Silent_p.C651C|C15orf55_uc010ucd.1_Silent_p.C641C	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	623						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		TGCCCCTTTGTTGGCAGGGAG	0.572			T	BRD3|BRD4	lethal midline carcinoma								C	34648162	T	C	34648162	2	2	27	1	0	0	0	0	0	0	0	1	1803	1731	60	3		3	C15orf55	15	34648162	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	110209	34648162	67883230	6334	30285											
GJD2	57369	broad.mit.edu	37	chr15	35045359	35045359	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcggactggtgcacagagtAggtgatgaagcaaagactgg	17	6	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:35045359A>T	uc001zis.1	-	2	286	c.286T>A	c.(286-288)TAC>AAC	p.Y96N	uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	96	Helical; (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TGCACAGAGTAGGTGATGAAG	0.567													T	35045359	A	T	35045359	3	4	27	1	0	0	0	0	1	0	0	0	6417	420	15	5	683	5	GJD2	15	35045359	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	397197	35045359	67486033	6335	30286											
AQR	9716	broad.mit.edu	37	chr15	35185907	35185907	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtcctctgttctgggaagTtgtggtagatgttggatatg	15	4	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:35185907T>C	uc001ziv.2	-	23	2709	c.2528A>G	c.(2527-2529)AAC>AGC	p.N843S		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	843						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTCTGGGAAGTTGTGGTAGAT	0.323													C	35185907	T	C	35185907	3	2	27	1	0	0	0	0	1	0	0	0	835	1725	60	3	1981	3	AQR	15	35185907	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	140548	35185907	67345485	6336	30287											
ZNF770	54989	broad.mit.edu	37	chr15	35273848	35273848	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaagtacattaggaagAcagggttgcccggtgctacc	11	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:35273848A>G	uc001ziw.2	-	3	2099	c.1788T>C	c.(1786-1788)TGT>TGC	p.C596C		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CATTAGGAAGACAGGGTTGCC	0.433													G	35273848	A	G	35273848	2	3	27	1	0	0	0	0	0	0	0	1	18140	273	10	3		3	ZNF770	15	35273848	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	87941	35273848	67257544	6337	30288											
C15orf54	400360	broad.mit.edu	37	chr15	39544627	39544627	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataagttggagcagaaccaActatatggagaagtcataaa	9	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:39544627A>G	uc001zkg.2	+	2	659	c.291A>G	c.(289-291)CAA>CAG	p.Q97Q		NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	hypothetical protein LOC400360	97											0		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		AGCAGAACCAACTATATGGAG	0.428													G	39544627	A	G	39544627	2	3	27	1	0	0	0	0	0	0	0	1	1802	40	2	3		3	C15orf54	15	39544627	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4270779	39544627	62986765	6338	30289											
FSIP1	161835	broad.mit.edu	37	chr15	40005645	40005645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaaaacaaaaagacttacCacattttccttcatcatttt	1	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:40005645C>T	uc001zki.2	-	10	1406	c.1188G>A	c.(1186-1188)GTG>GTA	p.V396V		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	396										ovary(2)|skin(1)	3		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AAAGACTTACCACATTTTCCT	0.229													T	40005645	C	T	40005645	2	4	27	1	0	0	0	0	0	0	0	1	6074	608	21	4		4	FSIP1	15	40005645	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	461018	40005645	62525747	6339	30290											
FSIP1	161835	broad.mit.edu	37	chr15	40068628	40068628	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcctggttctgttgagagcAcctccaaagaagcatttgaa	9	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:40068628A>G	uc001zki.2	-	2	316	c.98T>C	c.(97-99)GTG>GCG	p.V33A		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	33										ovary(2)|skin(1)	3		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TGTTGAGAGCACCTCCAAAGA	0.393													G	40068628	A	G	40068628	3	3	27	1	0	0	0	0	1	0	0	0	6074	159	6	3	1691	3	FSIP1	15	40068628	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	62983	40068628	62462764	6340	30291											
GPR176	11245	broad.mit.edu	37	chr15	40094113	40094113	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggcctcccgctgggaggcAtagggaatagagatggtgtt	16	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:40094113A>G	uc001zkj.1	-	3	1634	c.768T>C	c.(766-768)TAT>TAC	p.Y256Y	GPR176_uc010uck.1_Silent_p.Y196Y	NM_007223	NP_009154	Q14439	GP176_HUMAN	G protein-coupled receptor 176	256	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GCTGGGAGGCATAGGGAATAG	0.582											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	40094113	A	G	40094113	2	3	27	1	0	0	0	0	0	0	0	1	6673	224	8	3		3	GPR176	15	40094113	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	25485	40094113	62437279	6341	30292											
GPR176	11245	broad.mit.edu	37	chr15	40099369	40099369	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagaccaggctggcacaaAtccccgagcaggccaggttt	11	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:40099369A>C	uc001zkj.1	-	2	1129	c.263T>G	c.(262-264)ATT>AGT	p.I88S	GPR176_uc010uck.1_Missense_Mutation_p.I28S	NM_007223	NP_009154	Q14439	GP176_HUMAN	G protein-coupled receptor 176	88	Helical; Name=2; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GCTGGCACAAATCCCCGAGCA	0.507													C	40099369	A	C	40099369	3	2	27	1	0	0	0	0	1	0	0	0	6673	101	4	5	1292	5	GPR176	15	40099369	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	5256	40099369	62432023	6342	30293											
PAK6	56924	broad.mit.edu	37	chr15	40558052	40558052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccctacagacagtggtgCggggcagcgcgatgcctgtg	15	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:40558052C>T	uc010bbl.2	+	5	654	c.214C>T	c.(214-216)CGG>TGG	p.R72W	PAK6_uc010bbm.2_Missense_Mutation_p.R72W|PAK6_uc001zky.3_Missense_Mutation_p.R72W|PAK6_uc010bbn.2_Missense_Mutation_p.R72W|PAK6_uc001zlb.2_Missense_Mutation_p.R72W	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	72	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(5)|large_intestine(1)|ovary(1)|skin(1)	8		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GACAGTGGTGCGGGGCAGCGC	0.612													T	40558052	C	T	40558052	3	4	27	1	0	0	0	0	1	0	0	0	11404	759	27	1	220	1	PAK6	15	40558052	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	458683	40558052	61973340	6343	30294											
PLCB2	5330	broad.mit.edu	37	chr15	40594733	40594733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtccaccatgtccgggccGgacaccaccgtgagtgtctt	12	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:40594733G>A	uc001zld.2	-	4	610	c.309C>T	c.(307-309)TCC>TCT	p.S103S	PLCB2_uc010bbo.2_Silent_p.S103S|PLCB2_uc010ucm.1_Silent_p.S103S|PLCB2_uc001zle.3_Silent_p.S103S	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	103					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TGTCCGGGCCGGACACCACCG	0.587													A	40594733	G	A	40594733	2	1	27	1	0	0	0	0	0	0	0	1	12028	1103	39	1		1	PLCB2	15	40594733	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	36681	40594733	61936659	6344	30295											
DISP2	85455	broad.mit.edu	37	chr15	40656101	40656101	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttctccagccccctcacAgcgcgatgggacctggaagc	10	18	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:40656101A>C	uc001zlk.1	+	2	484	c.395A>C	c.(394-396)CAG>CCG	p.Q132P		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	132					smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCCCCCTCACAGCGCGATGGG	0.657													C	40656101	A	C	40656101	3	2	27	1	0	0	0	0	1	0	0	0	4540	188	7	5	401	5	DISP2	15	40656101	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	61368	40656101	61875291	6345	30296											
CHST14	113189	broad.mit.edu	37	chr15	40764146	40764146	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagatagtgaggcggtAcagggctggagcggggccca	20	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:40764146A>G	uc001zlw.2	+	1	934	c.734A>G	c.(733-735)TAC>TGC	p.Y245C		NM_130468	NP_569735	Q8NCH0	CHSTE_HUMAN	dermatan 4 sulfotransferase 1	245	Lumenal (Potential).				carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding				0		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GTGAGGCGGTACAGGGCTGGA	0.607													G	40764146	A	G	40764146	3	3	27	1	0	0	0	0	1	0	0	0	3402	391	14	3	736	3	CHST14	15	40764146	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	108045	40764146	61767246	6346	30297											
RPUSD2	27079	broad.mit.edu	37	chr15	40862035	40862035	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagcttgctgcacgtcttcAgtaccgagttccgagctcag	10	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:40862035A>G	uc001zmd.1	+	1	499	c.499A>G	c.(499-501)AGT>GGT	p.S167G		NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing	167					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			skin(1)	1		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		GCACGTCTTCAGTACCGAGTT	0.622													G	40862035	A	G	40862035	3	3	27	1	0	0	0	0	1	0	0	0	13667	188	7	3	501	3	RPUSD2	15	40862035	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	97889	40862035	61669357	6347	30298											
RPUSD2	27079	broad.mit.edu	37	chr15	40866263	40866263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttggacacaatagccttgGcatcagagaaggcagttgaa	12	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:40866263G>A	uc001zmd.1	+	3	1441	c.1441G>A	c.(1441-1443)GCA>ACA	p.A481T		NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing	481					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			skin(1)	1		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		AATAGCCTTGGCATCAGAGAA	0.557													A	40866263	G	A	40866263	3	1	27	1	0	0	0	0	1	0	0	0	13667	1203	42	2	1451	2	RPUSD2	15	40866263	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4228	40866263	61665129	6348	30299											
CASC5	57082	broad.mit.edu	37	chr15	40915370	40915370	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actaccaagaaaaggaaagaAcagacagacctaactttgaa	7	8	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:40915370A>T	uc010bbs.1	+	11	3147	c.2986A>T	c.(2986-2988)ACA>TCA	p.T996S	CASC5_uc010ucq.1_Missense_Mutation_p.T820S|CASC5_uc001zme.2_Missense_Mutation_p.T970S|CASC5_uc010bbt.1_Missense_Mutation_p.T970S	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	996	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAAGGAAAGAACAGACAGACC	0.393													T	40915370	A	T	40915370	3	4	27	1	0	0	0	0	1	0	0	0	2663	43	2	5	3024	5	CASC5	15	40915370	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	49107	40915370	61616022	6349	30300											
VPS18	57617	broad.mit.edu	37	chr15	41191463	41191463	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagagtgtgggttggaacaaGgcactgggcacggagagcag	19	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:41191463G>T	uc001zne.2	+	4	786	c.447G>T	c.(445-447)AAG>AAT	p.K149N		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	149					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GTTGGAACAAGGCACTGGGCA	0.607													T	41191463	G	T	41191463	3	4	27	1	0	0	0	0	1	0	0	0	17191	991	35	5	461	5	VPS18	15	41191463	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	276093	41191463	61339929	6350	30301											
VPS18	57617	broad.mit.edu	37	chr15	41192724	41192724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggactatgagcgggtgGtggcttaccactgtcagcac	14	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:41192724G>A	uc001zne.2	+	4	2047	c.1708G>A	c.(1708-1710)GTG>ATG	p.V570M		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	570					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGAGCGGGTGGTGGCTTACCA	0.597													A	41192724	G	A	41192724	3	1	27	1	0	0	0	0	1	0	0	0	17191	1261	44	4	1722	4	VPS18	15	41192724	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1261	41192724	61338668	6351	30302											
INO80	54617	broad.mit.edu	37	chr15	41352087	41352087	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gactccagaaccttctgatgActtttctatcatgaggattt	7	9	3	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:41352087A>C	uc001zni.2	-	15	2033	c.1820T>G	c.(1819-1821)GTC>GGC	p.V607G	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	607	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						CCTTCTGATGACTTTTCTATC	0.333													C	41352087	A	C	41352087	3	2	27	1	0	0	0	0	1	0	0	0	7746	275	10	5	2938	5	INO80	15	41352087	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	159363	41352087	61179305	6352	30303											
EXD1	161829	broad.mit.edu	37	chr15	41482161	41482161	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcctccaagccggtctgcagAcccttcgcgatacgtgttta	10	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:41482161A>T	uc001znk.2	-	9	1047	c.856T>A	c.(856-858)TCT>ACT	p.S286T	EXD1_uc001znj.2_Missense_Mutation_p.S84T|EXD1_uc010ucv.1_Missense_Mutation_p.S344T	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	286					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			ovary(1)	1						CGGTCTGCAGACCCTTCGCGA	0.532													T	41482161	A	T	41482161	3	4	27	1	0	0	0	0	1	0	0	0	5297	275	10	5	696	5	EXD1	15	41482161	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	130074	41482161	61049231	6353	30304											
EXD1	161829	broad.mit.edu	37	chr15	41509324	41509324	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcttttgctctcactgaGccttgttccacttcatctag	7	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:41509324G>A	uc001znk.2	-	2	248	c.57C>T	c.(55-57)GGC>GGT	p.G19G	EXD1_uc010ucv.1_Silent_p.G77G	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	19					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			ovary(1)	1						CTCTCACTGAGCCTTGTTCCA	0.363													A	41509324	G	A	41509324	2	1	27	1	0	0	0	0	0	0	0	1	5297	958	34	2		2	EXD1	15	41509324	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	27163	41509324	61022068	6354	30305											
NUSAP1	51203	broad.mit.edu	37	chr15	41663789	41663789	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaagactccagccagaaagTctgcacatgtgaccgtgtct	9	13	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:41663789T>A	uc001zns.3	+	8	1143	c.913T>A	c.(913-915)TCT>ACT	p.S305T	NUSAP1_uc001znq.3_Missense_Mutation_p.S110T|NUSAP1_uc001znr.3_Missense_Mutation_p.S304T|NUSAP1_uc010bce.2_Missense_Mutation_p.S305T|NUSAP1_uc001znt.3_Missense_Mutation_p.S290T|NUSAP1_uc001znv.3_Missense_Mutation_p.S303T|NUSAP1_uc001znu.3_Missense_Mutation_p.S304T|NUSAP1_uc010ucw.1_Missense_Mutation_p.S281T|NUSAP1_uc001znw.3_Missense_Mutation_p.S109T	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	305	Interaction with microtubules (By similarity).				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding				0		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		AGCCAGAAAGTCTGCACATGT	0.478													A	41663789	T	A	41663789	3	1	27	1	0	0	0	0	1	0	0	0	10778	1667	58	5	943	5	NUSAP1	15	41663789	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	154465	41663789	60867603	6355	30306											
RPAP1	26015	broad.mit.edu	37	chr15	41815492	41815492	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgactcagcagtggcaGcagcagctcctctgacaggc	14	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:41815492G>A	uc001zod.2	-	18	2621	c.2497C>T	c.(2497-2499)CTG>TTG	p.L833L	RPAP1_uc001zoc.2_5'UTR	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	833	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGCAGTGGCAGCAGCAGCTCC	0.587													A	41815492	G	A	41815492	2	1	27	1	0	0	0	0	0	0	0	1	13541	962	34	2		2	RPAP1	15	41815492	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	151703	41815492	60715900	6356	30307											
MGA	23269	broad.mit.edu	37	chr15	42028759	42028759	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggatatctctcctgtgCagacagatgccctggattca	11	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:42028759C>T	uc010ucy.1	+	13	4478	c.4297C>T	c.(4297-4299)CAG>TAG	p.Q1433*	MGA_uc010ucz.1_Nonsense_Mutation_p.Q1433*|MGA_uc010uda.1_Intron	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	1433						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CTCTCCTGTGCAGACAGATGC	0.493													T	42028759	C	T	42028759	4	4	27	1	0	0	0	0	0	1	0	0	9540	711	25	2	4343	2	MGA	15	42028759	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	213267	42028759	60502633	6357	30308											
MGA	23269	broad.mit.edu	37	chr15	42034971	42034971	+	Frame_Shift_Del	DEL	T	T	-													ctactaccacccctcaagtgTttttagaaaatactactgct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:42034970_42034970GT>G	uc010ucy.2	+	14	4993	c.4812_4812GT>G	c.(4810-4812)gtgfs	p.V1604fs	MGA_uc010ucz.2_Intron|MGA_uc010uda.1_Frame_Shift_Del_p.V220fs	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1604	Thr-rich.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CCCCTCAAGTGTTTTTAGAAA	0.473													-	42034971	T	-	42034971	7	5	27	1	0	1	0	1	0	0	0	0	9540	1725	60	0	4867	0	MGA	15	42034971	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	6212	42034971	60496421	6358	30309											
MGA	23269	broad.mit.edu	37	chr15	42041713	42041713	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttcccttcagatgaagAgagaatctcagaatccagac	8	10	2	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:42041713A>G	uc010ucy.1	+	17	6089	c.5908A>G	c.(5908-5910)AGA>GGA	p.R1970G	MGA_uc010ucz.1_Missense_Mutation_p.R1761G|MGA_uc010uda.1_Missense_Mutation_p.R586G|MGA_uc001zoi.2_Missense_Mutation_p.R184G	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	1931	Basic motif.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCAGATGAAGAGAGAATCTCA	0.443													G	42041713	A	G	42041713	3	3	27	1	0	0	0	0	1	0	0	0	9540	296	11	3	5970	3	MGA	15	42041713	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	6742	42041713	60489679	6359	30310											
SPTBN5	51332	broad.mit.edu	37	chr15	42147511	42147511	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgaggagcagggtctctcGctccagctggtgtagctgca	15	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:42147511G>A	uc001zos.2	-	55	9562	c.9229C>T	c.(9229-9231)CGA>TGA	p.R3077*		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3112	Spectrin 28.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGGGTCTCTCGCTCCAGCTGG	0.692													A	42147511	G	A	42147511	4	1	27	1	0	0	0	0	0	1	0	0	15121	1095	38	1	1746	1	SPTBN5	15	42147511	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	105798	42147511	60383881	6360	30311											
PLA2G4E	123745	broad.mit.edu	37	chr15	42298290	42298290	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatctggtgtcactgtgtcTtcatcacagacactcaactc	6	13	7	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:42298290T>C	uc001zow.1	-	3	336	c.336A>G	c.(334-336)GAA>GAG	p.E112E		NM_001080490	NP_001073959	Q3MJ16	PA24E_HUMAN	phospholipase A2, group 4E	123	C2.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity				0		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TCACTGTGTCTTCATCACAGA	0.512													C	42298290	T	C	42298290	2	2	27	1	0	0	0	0	0	0	0	1	12005	1606	56	3		3	PLA2G4E	15	42298290	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	150779	42298290	60233102	6361	30312											
ZFP106	64397	broad.mit.edu	37	chr15	42731697	42731697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgtcaaagtggattctgCctgttgttcaggctggtcag	13	7	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:42731697C>T	uc001zpw.2	-	8	4344	c.4009G>A	c.(4009-4011)GCA>ACA	p.A1337T	ZFP106_uc001zpu.2_Missense_Mutation_p.A435T|ZFP106_uc001zpv.2_Missense_Mutation_p.A522T|ZFP106_uc001zpx.2_Missense_Mutation_p.A565T	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	1337						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		GTGGATTCTGCCTGTTGTTCA	0.473													T	42731697	C	T	42731697	3	4	27	1	0	0	0	0	1	0	0	0	17634	739	26	2	1690	2	ZFP106	15	42731697	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	433407	42731697	59799695	6362	30313											
ZFP106	64397	broad.mit.edu	37	chr15	42731731	42731731	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtcagctggagagtggggTtccttctccaaaggggtttc	15	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:42731731T>C	uc001zpw.2	-	8	4310	c.3975A>G	c.(3973-3975)GAA>GAG	p.E1325E	ZFP106_uc001zpu.2_Silent_p.E423E|ZFP106_uc001zpv.2_Silent_p.E510E|ZFP106_uc001zpx.2_Silent_p.E553E	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	1325						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		GAGAGTGGGGTTCCTTCTCCA	0.473													C	42731731	T	C	42731731	2	2	27	1	0	0	0	0	0	0	0	1	17634	1722	60	3		3	ZFP106	15	42731731	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	34	42731731	59799661	6363	30314											
CDAN1	146059	broad.mit.edu	37	chr15	43021290	43021290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtccggcgcaaggagggcGgctggttgtggaaaaaggcc	19	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:43021290G>A	uc001zql.2	-	19	2693	c.2576C>T	c.(2575-2577)CCG>CTG	p.P859L	CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Missense_Mutation_p.P185L	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	859						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CAAGGAGGGCGGCTGGTTGTG	0.597													A	43021290	G	A	43021290	3	1	27	1	0	0	0	0	1	0	0	0	3054	1116	39	1	1147	1	CDAN1	15	43021290	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	289559	43021290	59510102	6364	30315											
CDAN1	146059	broad.mit.edu	37	chr15	43026186	43026186	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcactggagaagttggcacgAttgtcagtctctggctgaaa	12	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:43026186A>T	uc001zql.2	-	8	1434	c.1317T>A	c.(1315-1317)AAT>AAA	p.N439K	CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_RNA	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	439						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		AGTTGGCACGATTGTCAGTCT	0.463													T	43026186	A	T	43026186	3	4	27	1	0	0	0	0	1	0	0	0	3054	330	12	5	2450	5	CDAN1	15	43026186	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4896	43026186	59505206	6365	30316											
UBR1	197131	broad.mit.edu	37	chr15	43237655	43237655	+	Frame_Shift_Del	DEL	G	G	-													ccgctcacgagataaatgaaGggggttgcccctcctttagg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:43237654_43237654AG>A	uc001zqq.3	-	46	5189	c.5123_5123CT>T	c.(5122-5124)cttfs	p.L1708fs		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	1708					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGATAAATGAAGGGGGTTGCC	0.398													-	43237655	G	-	43237655	7	5	27	1	0	1	0	1	0	0	0	0	16898	1000	35	0	131	0	UBR1	15	43237655	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	211469	43237655	59293737	6366	30317											
UBR1	197131	broad.mit.edu	37	chr15	43367236	43367236	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaaaagggccagttttccAtgcctctgtgtctccacagt	8	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:43367236A>G	uc001zqq.2	-	4	535	c.469T>C	c.(469-471)TGG>CGG	p.W157R	UBR1_uc010udk.1_Missense_Mutation_p.W157R	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	157	UBR-type.				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CCAGTTTTCCATGCCTCTGTG	0.358													G	43367236	A	G	43367236	3	3	27	1	0	0	0	0	1	0	0	0	16898	217	8	3	4956	3	UBR1	15	43367236	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	129581	43367236	59164156	6367	30318											
EPB42	2038	broad.mit.edu	37	chr15	43500968	43500968	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagggattcccaggcatcGcagcactgtgagaagagggg	17	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:43500968G>A	uc001zra.3	-	7	1138	c.838C>T	c.(838-840)CGA>TGA	p.R280*	EPB42_uc001zqz.3_5'UTR|EPB42_uc010bde.2_Nonsense_Mutation_p.R125*|EPB42_uc001zrb.3_Nonsense_Mutation_p.R310*|EPB42_uc010udm.1_Nonsense_Mutation_p.R202*	NM_001114134	NP_001107606	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2 isoform 2	280			R -> Q (in SPH5; Tozeur).		erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			ovary(2)	2		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CCCAGGCATCGCAGCACTGTG	0.607													A	43500968	G	A	43500968	4	1	27	1	0	0	0	0	0	1	0	0	5158	1095	38	1	1265	1	EPB42	15	43500968	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	133732	43500968	59030424	6368	30319											
LCMT2	9836	broad.mit.edu	37	chr15	43622496	43622496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaagcgcgcacgcagtgCctcacggcgcgtgcgcggac	14	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:43622496C>T	uc001zrg.2	-	1	396	c.192G>A	c.(190-192)AGG>AGA	p.R64R	LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	64					tRNA processing		methyltransferase activity|protein binding				0		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GCACGCAGTGCCTCACGGCGC	0.677													T	43622496	C	T	43622496	2	4	27	1	0	0	0	0	0	0	0	1	8679	738	26	2		2	LCMT2	15	43622496	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	121528	43622496	58908896	6369	30320											
TP53BP1	7158	broad.mit.edu	37	chr15	43701152	43701152	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaacagataattacggTagttctggagctggttggca	13	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:43701152T>C	uc001zrs.2	-	26	5676	c.5528A>G	c.(5527-5529)TAC>TGC	p.Y1843C	TP53BP1_uc010udp.1_Missense_Mutation_p.Y1841C|TP53BP1_uc001zrq.3_Missense_Mutation_p.Y1846C|TP53BP1_uc001zrr.3_Missense_Mutation_p.Y1848C|TP53BP1_uc001zrp.2_Missense_Mutation_p.Y260C	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1843	BRCT 1.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATAATTACGGTAGTTCTGGAG	0.498								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					C	43701152	T	C	43701152	3	2	27	1	0	0	0	0	1	0	0	0	16380	1638	57	3	402	3	TP53BP1	15	43701152	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	78656	43701152	58830240	6370	30321											
TP53BP1	7158	broad.mit.edu	37	chr15	43714210	43714210	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtgcggtgtaagctggAtgccttggaggagaaggagc	18	5	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:43714210A>G	uc001zrs.2	-	19	4076	c.3928T>C	c.(3928-3930)TCC>CCC	p.S1310P	TP53BP1_uc010udp.1_Missense_Mutation_p.S1310P|TP53BP1_uc001zrq.3_Missense_Mutation_p.S1315P|TP53BP1_uc001zrr.3_Missense_Mutation_p.S1315P|TP53BP1_uc010udq.1_Missense_Mutation_p.S1315P	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1310					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGTAAGCTGGATGCCTTGGAG	0.547								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					G	43714210	A	G	43714210	3	3	27	1	0	0	0	0	1	0	0	0	16380	333	12	3	2030	3	TP53BP1	15	43714210	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	13058	43714210	58817182	6371	30322											
TP53BP1	7158	broad.mit.edu	37	chr15	43733752	43733752	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agactcagcaacagcagtagAtccattttttctttcaccag	6	11	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:43733752A>T	uc001zrs.2	-	15	3203	c.3055T>A	c.(3055-3057)TCT>ACT	p.S1019T	TP53BP1_uc010udp.1_Missense_Mutation_p.S1019T|TP53BP1_uc001zrq.3_Missense_Mutation_p.S1024T|TP53BP1_uc001zrr.3_Missense_Mutation_p.S1024T|TP53BP1_uc010udq.1_Missense_Mutation_p.S1024T	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1019					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ACAGCAGTAGATCCATTTTTT	0.388								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					T	43733752	A	T	43733752	3	4	27	1	0	0	0	0	1	0	0	0	16380	333	12	5	2919	5	TP53BP1	15	43733752	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	19542	43733752	58797640	6372	30323											
MAP1A	4130	broad.mit.edu	37	chr15	43817621	43817621	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagccctgatgaacacattcTgacacctgatagctccttct	6	13	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:43817621T>C	uc001zrt.2	+	4	4417	c.3950T>C	c.(3949-3951)CTG>CCG	p.L1317P		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1317						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GAACACATTCTGACACCTGAT	0.498													C	43817621	T	C	43817621	3	2	27	1	0	0	0	0	1	0	0	0	9227	1580	55	3	3952	3	MAP1A	15	43817621	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	83869	43817621	58713771	6373	30324											
MAP1A	4130	broad.mit.edu	37	chr15	43819858	43819858	+	Frame_Shift_Del	DEL	C	C	-													gcctcaccccacctgcagttCccccccgtgctcctatcctg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:43819857_43819857TC>T	uc001zrt.3	+	3	6653	c.6186_6186TC>T	c.(6184-6186)gttfs	p.V2062fs		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2062						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CACCTGCAGTTCCCCCCCGTG	0.612													-	43819858	C	-	43819858	7	5	27	1	0	1	0	1	0	0	0	0	9227	855	30	0	6189	0	MAP1A	15	43819858	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	2237	43819858	58711534	6374	30325											
CATSPER2	117155	broad.mit.edu	37	chr15	43924970	43924970	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaataggaagaggatgtggaGgagacacaggaggaagactg	18	3	0	3	rs140242525		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:43924970G>T	uc001zsh.2	-	11	1556	c.1341C>A	c.(1339-1341)TCC>TCA	p.S447S	STRC_uc010udz.1_5'Flank|CATSPER2_uc010bdm.2_Intron|CATSPER2_uc001zsi.2_Silent_p.S445S|CATSPER2_uc001zsj.2_Silent_p.S445S	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	sperm-associated cation channel 2 isoform 2	447	Cytoplasmic (Potential).|Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			ovary(1)	1		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		aggatgtggaggagacacagg	0.264													T	43924970	G	T	43924970	2	4	27	1	0	0	0	0	0	0	0	1	2688	987	35	5		5	CATSPER2	15	43924970	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	105112	43924970	58606422	6375	30326											
CKMT1A	548596	broad.mit.edu	37	chr15	43991208	43991208	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatcgatggagtaaactAtttgattgattgtgaacggc	12	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:43991208A>G	uc001zsn.2	+	10	1567	c.1175A>G	c.(1174-1176)TAT>TGT	p.Y392C	CKMT1A_uc010uea.1_Missense_Mutation_p.Y423C|CKMT1A_uc001zso.3_Missense_Mutation_p.Y392C	NM_001015001	NP_001015001	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A precursor	392	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	GGAGTAAACTATTTGATTGAT	0.483													G	43991208	A	G	43991208	3	3	27	1	0	0	0	0	1	0	0	0	3449	449	16	3	1209	3	CKMT1A	15	43991208	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	66238	43991208	58540184	6376	30327											
CTDSPL2	51496	broad.mit.edu	37	chr15	44751387	44751387	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaaaatttattaaaggaAgcacacctaaggtaatgatt	6	4	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:44751387A>G	uc001ztr.2	+	2	591	c.175A>G	c.(175-177)AGC>GGC	p.S59G	CTDSPL2_uc001zts.2_Missense_Mutation_p.S59G|CTDSPL2_uc001ztt.2_Missense_Mutation_p.S59G|CTDSPL2_uc010bdv.2_Missense_Mutation_p.S59G	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	59							phosphoprotein phosphatase activity				0		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		TATTAAAGGAAGCACACCTAA	0.254													G	44751387	A	G	44751387	3	3	27	1	0	0	0	0	1	0	0	0	4006	72	3	3	177	3	CTDSPL2	15	44751387	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	760179	44751387	57780005	6377	30328											
SPG11	80208	broad.mit.edu	37	chr15	44877948	44877948	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagatctacattcatgctgAagattctcaatgctgtagct	7	8	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:44877948A>G	uc001ztx.2	-	29	5038	c.5007T>C	c.(5005-5007)CTT>CTC	p.L1669L	SPG11_uc010bdw.2_5'Flank|SPG11_uc010ueh.1_Silent_p.L1669L|SPG11_uc010uei.1_Silent_p.L1669L|SPG11_uc001zty.1_Silent_p.L398L	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	1669	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ATTCATGCTGAAGATTCTCAA	0.408													G	44877948	A	G	44877948	2	3	27	1	0	0	0	0	0	0	0	1	15040	233	9	3		3	SPG11	15	44877948	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	126561	44877948	57653444	6378	30329											
DUOX2	50506	broad.mit.edu	37	chr15	45398417	45398417	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagaggctgcagctggAccacacggagcacagtgaga	15	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:45398417A>G	uc010bea.2	-	17	2257	c.2054T>C	c.(2053-2055)GTC>GCC	p.V685A	DUOX2_uc001zun.2_Missense_Mutation_p.V685A	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	685	Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTGCAGCTGGACCACACGGAG	0.587													G	45398417	A	G	45398417	3	3	27	1	0	0	0	0	1	0	0	0	4801	275	10	3	2664	3	DUOX2	15	45398417	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	520469	45398417	57132975	6379	30330											
DUOXA1	90527	broad.mit.edu	37	chr15	45415136	45415136	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagaaagatcatgatgatgCtggccaaagtggtgtccatc	11	8	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:45415136C>A	uc001zuq.1	-	1	106	c.77G>T	c.(76-78)AGC>ATC	p.S26I	DUOXA1_uc010uem.1_Missense_Mutation_p.S26I|DUOXA1_uc001zup.2_Missense_Mutation_p.S26I|DUOXA1_uc010bec.2_Missense_Mutation_p.S26I|DUOXA1_uc001zur.1_Missense_Mutation_p.S26I|DUOXA1_uc010bed.1_Missense_Mutation_p.S26I	NM_144565	NP_653166	Q1HG43	DOXA1_HUMAN	Numb-interacting protein	26	Helical; (Potential).				protein transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		CATGATGATGCTGGCCAAAGT	0.577													A	45415136	C	A	45415136	3	1	27	1	0	0	0	0	1	0	0	0	4802	797	28	5	1406	5	DUOXA1	15	45415136	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	16719	45415136	57116256	6380	30331											
DUOX1	53905	broad.mit.edu	37	chr15	45440114	45440114	+	Frame_Shift_Del	DEL	A	A	-													tctcccaggctctcctgaggAaaagtctcgccttatgttcc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:45440113_45440113GA>G	uc001zus.1	+	20	2906	c.2560_2560GA>G	c.(2560-2562)gaafs	p.E854fs	DUOX1_uc001zut.1_Frame_Shift_Del_p.E854fs|DUOX1_uc010bee.1_Frame_Shift_Del_p.E234fs|DUOX1_uc001zuu.3_5'UTR	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	854	EF-hand 2.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTCTCCTGAGGAAAAGTCTCG	0.562													-	45440114	A	-	45440114	7	5	27	1	0	1	0	1	0	0	0	0	4800	246	9	0	2635	0	DUOX1	15	45440114	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	24978	45440114	57091278	6381	30332											
DUOX1	53905	broad.mit.edu	37	chr15	45445594	45445594	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagtcttacacagtgtgggCcatgtggtgaatgtgtacct	12	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:45445594C>T	uc001zus.1	+	27	3787	c.3441C>T	c.(3439-3441)GGC>GGT	p.G1147G	DUOX1_uc001zut.1_Silent_p.G1147G|DUOX1_uc010bee.1_Silent_p.G527G	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1147	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).|Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ACAGTGTGGGCCATGTGGTGA	0.557													T	45445594	C	T	45445594	2	4	27	1	0	0	0	0	0	0	0	1	4800	726	26	2		2	DUOX1	15	45445594	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5480	45445594	57085798	6382	30333											
SEMA6D	80031	broad.mit.edu	37	chr15	48060784	48060784	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttgccaccacagacatggAggtatcttcatcttctgtta	8	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:48060784A>G	uc010bek.2	+	18	2132	c.1772A>G	c.(1771-1773)GAG>GGG	p.E591G	SEMA6D_uc001zvw.2_Intron|SEMA6D_uc001zvy.2_Missense_Mutation_p.E591G|SEMA6D_uc001zvz.2_Intron|SEMA6D_uc001zwa.2_Missense_Mutation_p.E572G|SEMA6D_uc001zwb.2_Intron|SEMA6D_uc001zwc.2_Intron	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	591	Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ACAGACATGGAGGTATCTTCA	0.343													G	48060784	A	G	48060784	3	3	27	1	0	0	0	0	1	0	0	0	14042	304	11	3	1881	3	SEMA6D	15	48060784	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2615190	48060784	54470608	6383	30334											
SEMA6D	80031	broad.mit.edu	37	chr15	48063628	48063628	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actcctggagtcccaatgacTtctctggaaagacaaagagg	10	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:48063628T>G	uc010bek.2	+	19	3228	c.2868T>G	c.(2866-2868)ACT>ACG	p.T956T	SEMA6D_uc001zvw.2_Silent_p.T894T|SEMA6D_uc001zvy.2_Silent_p.T956T|SEMA6D_uc001zvz.2_Silent_p.T900T|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Silent_p.T894T|SEMA6D_uc001zwc.2_Silent_p.T881T	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	956	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCCCAATGACTTCTCTGGAAA	0.468													G	48063628	T	G	48063628	2	3	27	1	0	0	0	0	0	0	0	1	14042	1596	56	5		5	SEMA6D	15	48063628	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2844	48063628	54467764	6384	30335											
SEMA6D	80031	broad.mit.edu	37	chr15	48063661	48063661	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaagaggttatcacaaaaaTtcctcccagaggcactctat	6	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:48063661T>A	uc010bek.2	+	19	3261	c.2901T>A	c.(2899-2901)AAT>AAA	p.N967K	SEMA6D_uc001zvw.2_Missense_Mutation_p.N905K|SEMA6D_uc001zvy.2_Missense_Mutation_p.N967K|SEMA6D_uc001zvz.2_Missense_Mutation_p.N911K|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.N905K|SEMA6D_uc001zwc.2_Missense_Mutation_p.N892K	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	967	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ATCACAAAAATTCCTCCCAGA	0.453													A	48063661	T	A	48063661	3	1	27	1	0	0	0	0	1	0	0	0	14042	1490	52	5	3014	5	SEMA6D	15	48063661	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	33	48063661	54467731	6385	30336											
SEMA6D	80031	broad.mit.edu	37	chr15	48063820	48063820	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaccagtgagtgttcaTctgcagccttccctctccag	9	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:48063820T>C	uc010bek.2	+	19	3420	c.3060T>C	c.(3058-3060)CAT>CAC	p.H1020H	SEMA6D_uc001zvw.2_Silent_p.H958H|SEMA6D_uc001zvy.2_Silent_p.H1020H|SEMA6D_uc001zvz.2_Silent_p.H964H|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Silent_p.H958H|SEMA6D_uc001zwc.2_Silent_p.H945H	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	1020	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGAGTGTTCATCTGCAGCCTT	0.527													C	48063820	T	C	48063820	2	2	27	1	0	0	0	0	0	0	0	1	14042	1432	50	3		3	SEMA6D	15	48063820	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	159	48063820	54467572	6386	30337											
MYEF2	50804	broad.mit.edu	37	chr15	48435261	48435261	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttttatttctgcaaacatTacatgacctgtaaaataaaa	3	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:48435261T>G	uc001zwi.3	-	17	1771	c.1647A>C	c.(1645-1647)GTA>GTC	p.V549V	MYEF2_uc001zwg.3_Silent_p.V87V|MYEF2_uc001zwh.3_Silent_p.V137V|MYEF2_uc001zwj.3_Silent_p.V525V	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	549	RRM 3.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CTGCAAACATTACATGACCTG	0.328													G	48435261	T	G	48435261	2	3	27	1	0	0	0	0	0	0	0	1	10024	1741	61	5		5	MYEF2	15	48435261	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	371441	48435261	54096131	6387	30338											
MYEF2	50804	broad.mit.edu	37	chr15	48451831	48451831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaacaaaaattgtggaAccaagtctaccggcctgcaa	9	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:48451831A>G	uc001zwi.3	-	6	820	c.696T>C	c.(694-696)GGT>GGC	p.G232G	MYEF2_uc001zwj.3_Silent_p.G232G|MYEF2_uc001zwl.2_Silent_p.G72G	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	232					transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		AAATTGTGGAACCAAGTCTAC	0.348													G	48451831	A	G	48451831	2	3	27	1	0	0	0	0	0	0	0	1	10024	30	2	3		3	MYEF2	15	48451831	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	16570	48451831	54079561	6388	30339											
DUT	1854	broad.mit.edu	37	chr15	48626625	48626625	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttagtgcctatgattAcacaataccacctatggaga	6	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:48626625A>G	uc001zws.2	+	3	523	c.431A>G	c.(430-432)TAC>TGC	p.Y144C	DUT_uc001zwt.2_Missense_Mutation_p.Y33C|DUT_uc001zwu.2_RNA|DUT_uc001zwv.2_Missense_Mutation_p.Y56C|DUT_uc001zww.2_Missense_Mutation_p.Y56C|uc010ben.1_5'Flank	NM_001025248	NP_001020419	P33316	DUT_HUMAN	deoxyuridine triphosphatase isoform 1 precursor	144					DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process	mitochondrion|nucleoplasm	dUTP diphosphatase activity|protein binding				0		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		GCCTATGATTACACAATACCA	0.328								Modulation_of_nucleotide_pools					G	48626625	A	G	48626625	3	3	27	1	0	0	0	0	1	0	0	0	4833	391	14	3	457	3	DUT	15	48626625	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	174794	48626625	53904767	6389	30340											
FBN1	2200	broad.mit.edu	37	chr15	48717623	48717623	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcgggcatgaacactggtAactcccttctgtgtttttgc	9	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:48717623A>G	uc001zwx.1	-	60	7724	c.7396T>C	c.(7396-7398)TAC>CAC	p.Y2466H	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2466	EGF-like 42; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GAACACTGGTAACTCCCTTCT	0.468													G	48717623	A	G	48717623	3	3	27	1	0	0	0	0	1	0	0	0	5702	362	13	3	1247	3	FBN1	15	48717623	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	90998	48717623	53813769	6390	30341											
FBN1	2200	broad.mit.edu	37	chr15	48791224	48791224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcccactgctgcagagtgCctgatattccgctgcaataa	10	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:48791224C>T	uc001zwx.1	-	18	2453	c.2125G>A	c.(2125-2127)GCA>ACA	p.A709T		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	709	TB 3.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTGCAGAGTGCCTGATATTCC	0.453													T	48791224	C	T	48791224	3	4	27	1	0	0	0	0	1	0	0	0	5702	739	26	2	6686	2	FBN1	15	48791224	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	73601	48791224	53740168	6391	30342											
FBN1	2200	broad.mit.edu	37	chr15	48796050	48796050	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtgctggcgcaacagcAttcagatttagtgacagcac	10	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:48796050A>G	uc001zwx.1	-	17	2375	c.2047T>C	c.(2047-2049)TGC>CGC	p.C683R		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	683	TB 3.		C -> R (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCGCAACAGCATTCAGATTTA	0.493													G	48796050	A	G	48796050	3	3	27	1	0	0	0	0	1	0	0	0	5702	217	8	3	6768	3	FBN1	15	48796050	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4826	48796050	53735342	6392	30343											
FBN1	2200	broad.mit.edu	37	chr15	48829959	48829959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccgctgagttgtccctgGcacatctggttgctgatcac	10	13	2	2	rs1803584		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:48829959G>A	uc001zwx.1	-	7	913	c.585C>T	c.(583-585)TGC>TGT	p.C195C		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	195	TB 1.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTTGTCCCTGGCACATCTGGT	0.502													A	48829959	G	A	48829959	2	1	27	1	0	0	0	0	0	0	0	1	5702	1195	42	2		2	FBN1	15	48829959	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	33909	48829959	53701433	6393	30344											
FBN1	2200	broad.mit.edu	37	chr15	48936859	48936859	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggcccgactggctctggtTtccttcacgttcccagcctc	9	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:48936859T>C	uc001zwx.1	-	2	436	c.108A>G	c.(106-108)GAA>GAG	p.E36E		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	36					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGGCTCTGGTTTCCTTCACGT	0.587													C	48936859	T	C	48936859	2	2	27	1	0	0	0	0	0	0	0	1	5702	1838	64	3		3	FBN1	15	48936859	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	106900	48936859	53594533	6394	30345											
FBN1	2200	broad.mit.edu	37	chr15	48936889	48936889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccagcctccaaattggcGtccgccccatggctcgtgta	9	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:48936889G>A	uc001zwx.1	-	2	406	c.78C>T	c.(76-78)GAC>GAT	p.D26D		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	26					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCAAATTGGCGTCCGCCCCAT	0.617													A	48936889	G	A	48936889	2	1	27	1	0	0	0	0	0	0	0	1	5702	1136	40	1		1	FBN1	15	48936889	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	30	48936889	53594503	6395	30346											
CEP152	22995	broad.mit.edu	37	chr15	49081124	49081124	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagctcgttgaagtgattcAgaatgatgaaggtccaccag	11	8	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:49081124A>G	uc001zwy.2	-	9	1081	c.1047T>C	c.(1045-1047)TCT>TCC	p.S349S	CEP152_uc001zwz.2_Silent_p.S349S|CEP152_uc001zxa.1_Silent_p.S256S	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	349	Potential.				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GAAGTGATTCAGAATGATGAA	0.418													G	49081124	A	G	49081124	2	3	27	1	0	0	0	0	0	0	0	1	3248	175	7	3		3	CEP152	15	49081124	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	144235	49081124	53450268	6396	30347											
SHC4	399694	broad.mit.edu	37	chr15	49135610	49135610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagtagctacttacttccGcagtgccatgggctccccag	11	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:49135610G>A	uc001zxb.1	-	10	1908	c.1479C>T	c.(1477-1479)TGC>TGT	p.C493C	SHC4_uc010uey.1_Silent_p.C250C|SHC4_uc010uez.1_Silent_p.C207C	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	rai-like protein	493	CH1.				intracellular signal transduction	cell junction|postsynaptic membrane				ovary(3)|pancreas(2)	5		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		ACTTACTTCCGCAGTGCCATG	0.318													A	49135610	G	A	49135610	2	1	27	1	0	0	0	0	0	0	0	1	14273	1079	38	1		1	SHC4	15	49135610	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	54486	49135610	53395782	6397	30348											
SHC4	399694	broad.mit.edu	37	chr15	49176493	49176493	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agactgcatgttgagatggtCagttttatattcattcctga	9	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:49176493C>T	uc001zxb.1	-	4	1221	c.792G>A	c.(790-792)CTG>CTA	p.L264L		NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	rai-like protein	264	PID.				intracellular signal transduction	cell junction|postsynaptic membrane				ovary(3)|pancreas(2)	5		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TTGAGATGGTCAGTTTTATAT	0.318													T	49176493	C	T	49176493	2	4	27	1	0	0	0	0	0	0	0	1	14273	813	29	4		4	SHC4	15	49176493	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	40883	49176493	53354899	6398	30349											
SECISBP2L	9728	broad.mit.edu	37	chr15	49292172	49292172	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctataacattatagagagccTcatccagaccacctgagaaa	6	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:49292172T>G	uc001zxe.1	-	16	2395	c.2261A>C	c.(2260-2262)GAG>GCG	p.E754A	SECISBP2L_uc001zxd.1_Missense_Mutation_p.E709A|SECISBP2L_uc010bep.1_Missense_Mutation_p.E516A	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	754										breast(1)|skin(1)	2						ATAGAGAGCCTCATCCAGACC	0.453													G	49292172	T	G	49292172	3	3	27	1	0	0	0	0	1	0	0	0	14007	1551	54	5	1056	5	SECISBP2L	15	49292172	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	115679	49292172	53239220	6399	30350											
SECISBP2L	9728	broad.mit.edu	37	chr15	49325281	49325281	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccttttgctttttatgtgcTgttgtaaaagctgttgctga	10	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:49325281T>C	uc001zxe.1	-	4	679	c.545A>G	c.(544-546)CAG>CGG	p.Q182R	SECISBP2L_uc001zxd.1_Missense_Mutation_p.Q182R|SECISBP2L_uc010bep.1_5'UTR|SECISBP2L_uc010beq.1_Missense_Mutation_p.Q182R	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	182										breast(1)|skin(1)	2						TTTTATGTGCTGTTGTAAAAG	0.318													C	49325281	T	C	49325281	3	2	27	1	0	0	0	0	1	0	0	0	14007	1580	55	3	2681	3	SECISBP2L	15	49325281	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	33109	49325281	53206111	6400	30351											
GALK2	2585	broad.mit.edu	37	chr15	49509474	49509474	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtagaacctgtgaaaacgtAcgctctccaactggccaata	8	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:49509474A>T	uc001zxj.1	+	3	328	c.230A>T	c.(229-231)TAC>TTC	p.Y77F	GALK2_uc001zxi.1_Missense_Mutation_p.Y66F|GALK2_uc010ufb.1_Missense_Mutation_p.Y53F|GALK2_uc001zxk.2_RNA|GALK2_uc010ufc.1_Missense_Mutation_p.Y53F	NM_002044	NP_002035	Q01415	GALK2_HUMAN	galactokinase 2 isoform 1	77					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)	1		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		GTGAAAACGTACGCTCTCCAA	0.378													T	49509474	A	T	49509474	3	4	27	1	0	0	0	0	1	0	0	0	6204	391	14	5	264	5	GALK2	15	49509474	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	184193	49509474	53021918	6401	30352											
DTWD1	56986	broad.mit.edu	37	chr15	49926794	49926794	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatatttcttttcatctgcAaaaaaggattcaaaataatg	5	5	4	1	rs35574741		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:49926794A>G	uc001zxq.2	+	5	747	c.470A>G	c.(469-471)CAA>CGA	p.Q157R	DTWD1_uc001zxs.2_Missense_Mutation_p.Q157R|DTWD1_uc001zxr.2_Missense_Mutation_p.Q70R|DTWD1_uc001zxo.2_Missense_Mutation_p.Q157R	NM_020234	NP_064619	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	157											0		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		TTTCATCTGCAAAAAAGGATT	0.343													G	49926794	A	G	49926794	3	3	27	1	0	0	0	0	1	0	0	0	4791	130	5	3	480	3	DTWD1	15	49926794	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	417320	49926794	52604598	6402	30353											
ATP8B4	79895	broad.mit.edu	37	chr15	50264895	50264895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcctcattgagcgtggtcGttcgagccactgcaggtatt	12	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:50264895G>A	uc001zxu.2	-	13	1269	c.1127C>T	c.(1126-1128)ACG>ATG	p.T376M	ATP8B4_uc010ber.2_Missense_Mutation_p.T249M|ATP8B4_uc010ufd.1_Missense_Mutation_p.T249M|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	376	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GAGCGTGGTCGTTCGAGCCAC	0.423													A	50264895	G	A	50264895	3	1	27	1	0	0	0	0	1	0	0	0	1197	1145	40	1	2515	1	ATP8B4	15	50264895	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	338101	50264895	52266497	6403	30354											
HDC	3067	broad.mit.edu	37	chr15	50535355	50535355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attacctttagacgaaaaacCaccaggccaaggtgcctctt	7	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:50535355C>T	uc001zxz.2	-	11	1333	c.1227G>A	c.(1225-1227)GTG>GTA	p.V409V	HDC_uc001zxy.2_Silent_p.V152V|HDC_uc010uff.1_Silent_p.V376V	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	409					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GACGAAAAACCACCAGGCCAA	0.478													T	50535355	C	T	50535355	2	4	27	1	0	0	0	0	0	0	0	1	7015	581	21	4		4	HDC	15	50535355	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	270460	50535355	51996037	6404	30355											
USP8	9101	broad.mit.edu	37	chr15	50733661	50733661	+	Frame_Shift_Del	DEL	A	A	-													tgactgtttataatcttatcAaaaaaagacctgatttcaag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:50733660_50733660CA>C	uc001zym.4	+	3	719	c.219_219CA>C	c.(217-219)atcfs	p.I73fs	USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.4_Frame_Shift_Del_p.I73fs|USP8_uc001zyn.4_Frame_Shift_Del_p.I73fs|USP8_uc010ufh.2_Intron|USP8_uc010bev.1_5'UTR	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	73	MIT.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATAATCTTATCAAAAAAAGAC	0.323													-	50733661	A	-	50733661	7	5	27	1	0	1	0	1	0	0	0	0	17086	131	5	0	226	0	USP8	15	50733661	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	198306	50733661	51797731	6405	30356											
USP8	9101	broad.mit.edu	37	chr15	50769071	50769071	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtaaaactgtcctgcgcaAtgagcctttggttttagagg	11	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:50769071A>G	uc001zym.3	+	10	1375	c.875A>G	c.(874-876)AAT>AGT	p.N292S	USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.3_Missense_Mutation_p.N292S|USP8_uc001zyn.3_Missense_Mutation_p.N292S|USP8_uc010ufh.1_Missense_Mutation_p.N215S|USP8_uc010bev.1_Intron	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	292	Rhodanese.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GTCCTGCGCAATGAGCCTTTG	0.393													G	50769071	A	G	50769071	3	3	27	1	0	0	0	0	1	0	0	0	17086	101	4	3	905	3	USP8	15	50769071	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	35410	50769071	51762321	6406	30357											
TRPM7	54822	broad.mit.edu	37	chr15	50886647	50886647	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggtccatcggaagtcttatCtttctttcttctcttacata	5	10	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:50886647C>T	uc001zyt.3	-	24	3718	c.3454G>A	c.(3454-3456)GAT>AAT	p.D1152N	TRPM7_uc010bew.1_Missense_Mutation_p.D1152N	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1152	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GAAGTCTTATCTTTCTTTCTT	0.323													T	50886647	C	T	50886647	3	4	27	1	0	0	0	0	1	0	0	0	16588	913	32	4	2207	4	TRPM7	15	50886647	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	117576	50886647	51644745	6407	30358											
TRPM7	54822	broad.mit.edu	37	chr15	50902025	50902025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggatctcttctgttatgTtctgaaagttgttttcgctg	11	6	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:50902025T>C	uc001zyt.3	-	18	2678	c.2414A>G	c.(2413-2415)AAC>AGC	p.N805S	TRPM7_uc010bew.1_Missense_Mutation_p.N805S|TRPM7_uc001zyu.2_Missense_Mutation_p.N363S	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	805	Extracellular (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTCTGTTATGTTCTGAAAGTT	0.313													C	50902025	T	C	50902025	3	2	27	1	0	0	0	0	1	0	0	0	16588	1725	60	3	3271	3	TRPM7	15	50902025	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	15378	50902025	51629367	6408	30359											
AP4E1	23431	broad.mit.edu	37	chr15	51285692	51285692	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaagagagtataatggAgaatgtagatcaagctataa	9	5	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:51285692A>T	uc001zyx.1	+	17	2246	c.2216A>T	c.(2215-2217)GAG>GTG	p.E739V		NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	739					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AGTATAATGGAGAATGTAGAT	0.388													T	51285692	A	T	51285692	3	4	27	1	0	0	0	0	1	0	0	0	752	304	11	5	2282	5	AP4E1	15	51285692	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	383667	51285692	51245700	6409	30360											
TNFAIP8L3	388121	broad.mit.edu	37	chr15	51350349	51350349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgacaatggtcatggcgGtctggttcagcttcttccgg	13	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:51350349G>A	uc001zyy.2	-	3	708	c.608C>T	c.(607-609)ACC>ATC	p.T203I		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein	203											0				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		GGTCATGGCGGTCTGGTTCAG	0.502													A	51350349	G	A	51350349	3	1	27	1	0	0	0	0	1	0	0	0	16276	1261	44	4	274	4	TNFAIP8L3	15	51350349	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	64657	51350349	51181043	6410	30361											
GLDN	342035	broad.mit.edu	37	chr15	51634204	51634204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcatatccgcgccgagaGccatgacatgctgatgatga	12	12	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:51634204G>A	uc002aba.2	+	1	492	c.323G>A	c.(322-324)AGC>AAC	p.S108N	GLDN_uc010bez.1_Missense_Mutation_p.S108N	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	108	Extracellular (Potential).				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CGCGCCGAGAGCCATGACATG	0.721													A	51634204	G	A	51634204	3	1	27	1	0	0	0	0	1	0	0	0	6434	971	34	2	325	2	GLDN	15	51634204	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	283855	51634204	50897188	6411	30362											
GLDN	342035	broad.mit.edu	37	chr15	51689758	51689758	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcagaagagccaaaggCcctcggcagccaagcatgtt	13	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:51689758C>T	uc002aba.2	+	6	949	c.780C>T	c.(778-780)GGC>GGT	p.G260G	GLDN_uc002abb.2_Silent_p.G136G	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	260	Extracellular (Potential).|Pro-rich.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GAGCCAAAGGCCCTCGGCAGC	0.612													T	51689758	C	T	51689758	2	4	27	1	0	0	0	0	0	0	0	1	6434	726	26	2		2	GLDN	15	51689758	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	55554	51689758	50841634	6412	30363											
DMXL2	23312	broad.mit.edu	37	chr15	51828742	51828742	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatcgatgaccgcaataTctaaatttgtgagatacagt	8	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:51828742T>A	uc002abf.2	-	12	2160	c.1935A>T	c.(1933-1935)AGA>AGT	p.R645S	DMXL2_uc010ufy.1_Missense_Mutation_p.R645S|DMXL2_uc010bfa.2_Missense_Mutation_p.R645S	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	645						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		GACCGCAATATCTAAATTTGT	0.383													A	51828742	T	A	51828742	3	1	27	1	0	0	0	0	1	0	0	0	4595	1432	50	5	7306	5	DMXL2	15	51828742	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	138984	51828742	50702650	6413	30364											
SCG3	29106	broad.mit.edu	37	chr15	51975303	51975303	+	Frame_Shift_Del	DEL	A	A	-													aagcagaagaagacaagattAaaaaaacatatcctccaggt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:51975302_51975302TA>T	uc002abh.3	+	2	565	c.162_162TA>T	c.(160-162)attfs	p.I54fs	SCG3_uc010ufz.2_5'UTR	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	54					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AAGACAAGATTAAAAAAACAT	0.348													-	51975303	A	-	51975303	7	5	27	1	0	1	0	1	0	0	0	0	13892	363	13	0	173	0	SCG3	15	51975303	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	146561	51975303	50556089	6414	30365											
MAPK6	5597	broad.mit.edu	37	chr15	52339143	52339143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaatcttttcattaatacGgaagacttggtgctgaagat	9	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:52339143G>A	uc002abp.2	+	2	1280	c.486G>A	c.(484-486)ACG>ACA	p.T162T		NM_002748	NP_002739	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	162	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(3)|ovary(1)	4				all cancers(107;0.0028)		TCATTAATACGGAAGACTTGG	0.433													A	52339143	G	A	52339143	2	1	27	1	0	0	0	0	0	0	0	1	9281	1103	39	1		1	MAPK6	15	52339143	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	363840	52339143	50192249	6415	30366											
MYO5C	55930	broad.mit.edu	37	chr15	52503982	52503982	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgagggacttcagcatgTtggcatcattcagagagtct	11	8	5	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:52503982T>C	uc010bff.2	-	35	4378	c.4241A>G	c.(4240-4242)AAC>AGC	p.N1414S	MYO5C_uc010uga.1_RNA	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	1414						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		CTTCAGCATGTTGGCATCATT	0.527													C	52503982	T	C	52503982	3	2	27	1	0	0	0	0	1	0	0	0	10080	1725	60	3	1015	3	MYO5C	15	52503982	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	164839	52503982	50027410	6416	30367											
MYO5C	55930	broad.mit.edu	37	chr15	52564895	52564895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgactactattgtcattgCgggtggtcttggcatttcca	10	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:52564895C>T	uc010bff.2	-	6	769	c.632G>A	c.(631-633)CGC>CAC	p.R211H	MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA|MYO5C_uc010ugc.1_Missense_Mutation_p.R174H	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	211	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		ATTGTCATTGCGGGTGGTCTT	0.358													T	52564895	C	T	52564895	3	4	27	1	0	0	0	0	1	0	0	0	10080	768	27	1	4740	1	MYO5C	15	52564895	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	60913	52564895	49966497	6417	30368											
MYO5A	4644	broad.mit.edu	37	chr15	52680091	52680091	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttattcttttcgagaaatcCttcacactggtattccacct	4	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:52680091C>A	uc002aby.2	-	14	1931	c.1687G>T	c.(1687-1689)GGA>TGA	p.G563*	MYO5A_uc002abx.3_Nonsense_Mutation_p.G563*|MYO5A_uc010uge.1_Nonsense_Mutation_p.G432*	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	563	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCGAGAAATCCTTCACACTGG	0.299													A	52680091	C	A	52680091	4	1	27	1	0	0	0	0	0	1	0	0	10078	690	24	5	3992	5	MYO5A	15	52680091	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	115196	52680091	49851301	6418	30369											
MYO5A	4644	broad.mit.edu	37	chr15	52689518	52689518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcttggccaaagcatcgCgggcatttgtggcctgcagc	14	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:52689518C>T	uc002aby.2	-	10	1443	c.1199G>A	c.(1198-1200)CGC>CAC	p.R400H	MYO5A_uc002abx.3_Missense_Mutation_p.R400H|MYO5A_uc010uge.1_Missense_Mutation_p.R269H	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	400	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CAAAGCATCGCGGGCATTTGT	0.483													T	52689518	C	T	52689518	3	4	27	1	0	0	0	0	1	0	0	0	10078	768	27	1	4496	1	MYO5A	15	52689518	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	9427	52689518	49841874	6419	30370											
ARPP19	10776	broad.mit.edu	37	chr15	52849361	52849361	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgtcccagatgaggatatCttgcttttaattttgcttct	7	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:52849361C>T	uc002acd.1	-	2	228	c.104G>A	c.(103-105)AGA>AAA	p.R35K	ARPP19_uc002ace.1_Missense_Mutation_p.R35K	NM_006628	NP_006619	P56211	ARP19_HUMAN	cyclic AMP phosphoprotein, 19 kD	35					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of gluconeogenesis|positive regulation of glucose import	cytoplasm	potassium channel regulator activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding				0						ATGAGGATATCTTGCTTTTAA	0.358													T	52849361	C	T	52849361	3	4	27	1	0	0	0	0	1	0	0	0	977	913	32	4	242	4	ARPP19	15	52849361	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	159843	52849361	49682031	6420	30371											
KIAA1370	56204	broad.mit.edu	37	chr15	52902186	52902186	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcttgagatgtcccatggtCagatttactgccagtgcctg	12	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:52902186C>T	uc002acg.3	-	6	1078	c.925G>A	c.(925-927)GAC>AAC	p.D309N	KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.D221N|KIAA1370_uc010ugf.1_Missense_Mutation_p.D316N	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	309											0				all cancers(107;0.0803)		GTCCCATGGTCAGATTTACTG	0.383													T	52902186	C	T	52902186	3	4	27	1	0	0	0	0	1	0	0	0	8226	826	29	4	2337	4	KIAA1370	15	52902186	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	52825	52902186	49629206	6421	30372											
ONECUT1	3175	broad.mit.edu	37	chr15	53081207	53081207	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgccacctctttggtattgAtctcttccatctgccctgaa	7	14	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:53081207A>G	uc002aci.1	-	1	1003	c.875T>C	c.(874-876)ATC>ACC	p.I292T		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	292	CUT.				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)		TTTGGTATTGATCTCTTCCAT	0.632													G	53081207	A	G	53081207	3	3	27	1	0	0	0	0	1	0	0	0	10868	333	12	3	530	3	ONECUT1	15	53081207	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	179021	53081207	49450185	6422	30373											
UNC13C	440279	broad.mit.edu	37	chr15	54307698	54307698	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagaggatgaggaagaTtatactgaaccagtggctga	13	5	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:54307698T>C	uc002ack.2	+	1	2598	c.2598T>C	c.(2596-2598)GAT>GAC	p.D866D		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	866					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATGAGGAAGATTATACTGAAC	0.393													C	54307698	T	C	54307698	2	2	27	1	0	0	0	0	0	0	0	1	16983	1490	52	3		3	UNC13C	15	54307698	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1226491	54307698	48223694	6423	30374											
UNC13C	440279	broad.mit.edu	37	chr15	54307737	54307737	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaatgaaacagattatgtTgaagtcatggaacaagtcct	9	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:54307737T>C	uc002ack.2	+	1	2637	c.2637T>C	c.(2635-2637)GTT>GTC	p.V879V		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	879					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAGATTATGTTGAAGTCATGG	0.388													C	54307737	T	C	54307737	2	2	27	1	0	0	0	0	0	0	0	1	16983	1799	63	3		3	UNC13C	15	54307737	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	39	54307737	48223655	6424	30375											
RAB27A	5873	broad.mit.edu	37	chr15	55516108	55516108	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catatttctctgcgagtgctAtggcttcctcctctttcact	6	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:55516108A>G	uc002aco.2	-	6	679	c.446T>C	c.(445-447)ATA>ACA	p.I149T	RAB27A_uc002acr.2_Missense_Mutation_p.I149T|RAB27A_uc002acp.2_Missense_Mutation_p.I149T|RAB27A_uc002acq.2_Missense_Mutation_p.I149T	NM_183234	NP_899057	P51159	RB27A_HUMAN	Ras-related protein Rab-27A	149					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			ovary(1)	1				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TGCGAGTGCTATGGCTTCCTC	0.393													G	55516108	A	G	55516108	3	3	27	1	0	0	0	0	1	0	0	0	12914	449	16	3	227	3	RAB27A	15	55516108	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1208371	55516108	47015284	6425	30376											
RAB27A	5873	broad.mit.edu	37	chr15	55522617	55522617	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acctctcctgccctgctgtgTcccataactgcaggtggatt	9	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:55522617T>A	uc002aco.2	-	4	454	c.221A>T	c.(220-222)GAC>GTC	p.D74V	RAB27A_uc002acr.2_Missense_Mutation_p.D74V|RAB27A_uc002acp.2_Missense_Mutation_p.D74V|RAB27A_uc002acq.2_Missense_Mutation_p.D74V	NM_183234	NP_899057	P51159	RB27A_HUMAN	Ras-related protein Rab-27A	74	GTP (By similarity).				small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			ovary(1)	1				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		CCCTGCTGTGTCCCATAACTG	0.473													A	55522617	T	A	55522617	3	1	27	1	0	0	0	0	1	0	0	0	12914	1667	58	5	460	5	RAB27A	15	55522617	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	6509	55522617	47008775	6426	30377											
CCPG1	9236	broad.mit.edu	37	chr15	55652398	55652398	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggatttaactgaatctgagaAttttttcagattttccttca	6	6	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:55652398A>T	uc002acv.1	-	8	1738	c.1573T>A	c.(1573-1575)TTC>ATC	p.F525I	CCPG1_uc002acy.2_Missense_Mutation_p.F525I|CCPG1_uc002acu.1_Missense_Mutation_p.F381I|CCPG1_uc002acw.1_Missense_Mutation_p.F250I|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Missense_Mutation_p.F525I|CCPG1_uc002acz.1_Missense_Mutation_p.F525I	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2	525	Lumenal (Potential).|Potential.				cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)		GAATCTGAGAATTTTTTCAGA	0.333													T	55652398	A	T	55652398	3	4	27	1	0	0	0	0	1	0	0	0	2938	101	4	5	704	5	CCPG1	15	55652398	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	129781	55652398	46878994	6427	30378											
CCPG1	9236	broad.mit.edu	37	chr15	55669237	55669239	+	In_Frame_Del	DEL	CTT	CTT	-													tgcttcttcaacaatgacaaCttcttgatttccaatttctt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:55669236_55669238ACTT>A	uc010bfk.2	-	4	662_664	c.363_365AAGT>T	c.(361-366)gaagtt>gaTt	p.121_122EV>D	CCPG1_uc002acy.3_In_Frame_Del_p.121_122EV>D|CCPG1_uc010ugh.1_Non-coding_Transcript|CCPG1_uc002acz.2_In_Frame_Del_p.121_122EV>D|CCPG1_uc002acw.2_5'UTR|CCPG1_uc002acx.3_In_Frame_Del_p.121_122EV>D|CCPG1_uc002acv.2_In_Frame_Del_p.121_122EV>D	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN	Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.	121	Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane		p.V122I(2)|p.E121D(2)		autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		AACAATGACAACTTCTTGATTTC	0.394													-	55669239	CTT	-	55669237	7	5	27	1	0	1	0	1	0	0	0	0	2938	565	20	0	1925	0	CCPG1	15	55669237	In_Frame_Del	DEL	CTT	TCGA-BR-6452-01A-12D-1800-08	16839	55669237	46862155	6428	30379											
DYX1C1	161582	broad.mit.edu	37	chr15	55783395	55783396	+	Frame_Shift_Del	DEL	CT	CT	-													tgcttctgtagcttcttttgCtctctcttgtgcttgtaaaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:55783394_55783395GCT>G	uc002adc.3	-	3	699_700	c.331_332AGC>C	c.(331-333)gcafs	p.A111fs	CCPG1_uc002acy.3_5'UTR|CCPG1_uc010ugh.1_Non-coding_Transcript|CCPG1_uc010ugi.2_Non-coding_Transcript|DYX1C1_uc002adb.3_Frame_Shift_Del_p.A111fs|DYX1C1_uc002add.3_Frame_Shift_Del_p.A111fs	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	Homo sapiens dyslexia susceptibility 1 candidate 1 (DYX1C1), transcript variant 1, mRNA.	111					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		AGCTTCTTTTGCTCTCTCTTGT	0.356													-	55783396	CT	-	55783395	7	5	27	1	0	1	0	1	0	0	0	0	4862	797	28	0	1062	0	DYX1C1	15	55783395	Frame_Shift_Del	DEL	CT	TCGA-BR-6452-01A-12D-1800-08	114158	55783395	46747997	6429	30380											
DYX1C1	161582	broad.mit.edu	37	chr15	55789947	55789947	+	Frame_Shift_Del	DEL	T	T	-													gtctcccacatggccgcttcTtttttatacaaggtgaagac							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:55789946_55789946CT>C	uc002adc.3	-	2	603	c.235_235AG>G	c.(235-237)gaafs	p.E79fs	CCPG1_uc002acy.3_5'UTR|CCPG1_uc010ugh.1_Non-coding_Transcript|CCPG1_uc010ugi.2_Non-coding_Transcript|DYX1C1_uc002adb.3_Frame_Shift_Del_p.E79fs|DYX1C1_uc002add.3_Frame_Shift_Del_p.E79fs	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	Homo sapiens dyslexia susceptibility 1 candidate 1 (DYX1C1), transcript variant 1, mRNA.	79	CS.|Mediates interaction with ESR1 and STUB1.				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		ATGGCCGCTTCTTTTTTATAC	0.393													-	55789947	T	-	55789947	7	5	27	1	0	1	0	1	0	0	0	0	4862	1606	56	0	1163	0	DYX1C1	15	55789947	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	6552	55789947	46741445	6430	30381											
PYGO1	26108	broad.mit.edu	37	chr15	55838265	55838265	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaccaaaagtttctctagTacgcattaactggacatctt	7	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:55838265T>C	uc010bfl.1	-	3	1272	c.1216A>G	c.(1216-1218)ACT>GCT	p.T406A	PYGO1_uc002adf.1_Missense_Mutation_p.T406A	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	pygopus homolog 1	406					Wnt receptor signaling pathway	nucleus	zinc ion binding			ovary(1)|skin(1)	2				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GTTTCTCTAGTACGCATTAAC	0.428													C	55838265	T	C	55838265	3	2	27	1	0	0	0	0	1	0	0	0	12863	1638	57	3	47	3	PYGO1	15	55838265	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	48318	55838265	46693127	6431	30382											
PYGO1	26108	broad.mit.edu	37	chr15	55838758	55838758	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttggttgctccttgagtAaagtcttgttttgggggtgg	14	4	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:55838758A>G	uc010bfl.1	-	3	779	c.723T>C	c.(721-723)TTT>TTC	p.F241F	PYGO1_uc002adf.1_Silent_p.F241F	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	pygopus homolog 1	241	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			ovary(1)|skin(1)	2				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		CTCCTTGAGTAAAGTCTTGTT	0.353													G	55838758	A	G	55838758	2	3	27	1	0	0	0	0	0	0	0	1	12863	359	13	3		3	PYGO1	15	55838758	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	493	55838758	46692634	6432	30383											
PRTG	283659	broad.mit.edu	37	chr15	55971497	55971497	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctacctgttgtacatttTaattctaccattcgaatgta	5	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:55971497T>G	uc002adg.2	-	7	1168	c.1120A>C	c.(1120-1122)AAA>CAA	p.K374Q		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor	374	Ig-like 4.				multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TTGTACATTTTAATTCTACCA	0.348													G	55971497	T	G	55971497	3	3	27	1	0	0	0	0	1	0	0	0	12638	1763	61	5	2388	5	PRTG	15	55971497	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	132739	55971497	46559895	6433	30384											
NEDD4	4734	broad.mit.edu	37	chr15	56140591	56140591	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtccagttattgctacattCtccaaccgaggatcttccca	7	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:56140591C>T	uc002adj.2	-	13	3078	c.2778G>A	c.(2776-2778)GAG>GAA	p.E926E	NEDD4_uc002adl.2_Silent_p.E507E|NEDD4_uc002adi.2_Silent_p.E854E|NEDD4_uc010ugj.1_Silent_p.E910E|NEDD4_uc010bfm.2_Silent_p.E909E|NEDD4_uc002adk.2_RNA	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	926	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTGCTACATTCTCCAACCGAG	0.398													T	56140591	C	T	56140591	2	4	27	1	0	0	0	0	0	0	0	1	10310	912	32	4		4	NEDD4	15	56140591	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	169094	56140591	46390801	6434	30385											
RFX7	64864	broad.mit.edu	37	chr15	56388470	56388470	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatgtttaagaggggtgtTactgttgctgggtgtgaggg	18	2	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:56388470T>C	uc010bfn.2	-	9	1456	c.1456A>G	c.(1456-1458)AAC>GAC	p.N486D	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.N300D	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	389					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						AGAGGGGTGTTACTGTTGCTG	0.448													C	56388470	T	C	56388470	3	2	27	1	0	0	0	0	1	0	0	0	13268	1754	61	3	2930	3	RFX7	15	56388470	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	247879	56388470	46142922	6435	30386											
TEX9	374618	broad.mit.edu	37	chr15	56719831	56719831	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaatgaagaacacaaaaaaaTtgaagtgttaaaatcagaaa	6	3	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:56719831T>A	uc002adp.2	+	11	997	c.992T>A	c.(991-993)ATT>AAT	p.I331N	TEX9_uc010ugl.1_Missense_Mutation_p.I256N	NM_198524	NP_940926	Q8N6V9	TEX9_HUMAN	testis expressed 9	331	Potential.										0				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		CACAAAAAAATTGAAGTGTTA	0.274													A	56719831	T	A	56719831	3	1	27	1	0	0	0	0	1	0	0	0	15781	1493	52	5	1034	5	TEX9	15	56719831	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	331361	56719831	45811561	6436	30387											
GCOM1	145781	broad.mit.edu	37	chr15	57925827	57925827	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaagaaaccaatagttTtctgaaagcgattgaagaag	11	5	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:57925827T>A	uc002aei.2	+	8	940	c.821T>A	c.(820-822)TTT>TAT	p.F274Y	GCOM1_uc002aej.2_Missense_Mutation_p.F274Y|GCOM1_uc002aek.2_RNA|GCOM1_uc002ael.2_RNA|GCOM1_uc002aem.2_Missense_Mutation_p.F274Y|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_RNA|GCOM1_uc002aeo.2_Missense_Mutation_p.F274Y|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_RNA	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	GRINL1A upstream protein isoform 7	274	Potential.				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				ovary(1)	1						ACCAATAGTTTTCTGAAAGCG	0.483													A	57925827	T	A	57925827	3	1	27	1	0	0	0	0	1	0	0	0	6304	1841	64	5	851	5	GCOM1	15	57925827	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1205996	57925827	44605565	6437	30388											
AQP9	366	broad.mit.edu	37	chr15	58467216	58467216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccgtatctatctctggCgaacgcatttgcagatcaag	9	11	3	1	rs146866709	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:58467216C>T	uc002aez.2	+	4	833	c.476C>T	c.(475-477)GCG>GTG	p.A159V	ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.A94V	NM_020980	NP_066190	O43315	AQP9_HUMAN	aquaporin 9	159	Helical; (Potential).				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			ovary(1)	1				GBM - Glioblastoma multiforme(80;0.16)		CTATCTCTGGCGAACGCATTT	0.423													T	58467216	C	T	58467216	3	4	27	1	0	0	0	0	1	0	0	0	833	768	27	1	490	1	AQP9	15	58467216	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	541389	58467216	44064176	6438	30389											
LDHAL6B	92483	broad.mit.edu	37	chr15	59499212	59499212	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcgaatttcctatgcctgGggatggccctgtgtccgcgt	14	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:59499212G>T	uc002agb.2	+	1	171	c.73G>T	c.(73-75)GGG>TGG	p.G25W	MYO1E_uc002aga.2_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	25					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding				0					NADH(DB00157)	CCTATGCCTGGGGATGGCCCT	0.592													T	59499212	G	T	59499212	3	4	27	1	0	0	0	0	1	0	0	0	8700	1232	43	5	75	5	LDHAL6B	15	59499212	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1031996	59499212	43032180	6439	30390											
MYO1E	4643	broad.mit.edu	37	chr15	59500995	59500995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctgccccctcacccaccGcatgcatcgtggcgcacacg	9	19	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:59500995G>A	uc002aga.2	-	14	1787	c.1415C>T	c.(1414-1416)GCG>GTG	p.A472V		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	472	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)		CTCACCCACCGCATGCATCGT	0.537													A	59500995	G	A	59500995	3	1	27	1	0	0	0	0	1	0	0	0	10072	1087	38	1	1971	1	MYO1E	15	59500995	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1783	59500995	43030397	6440	30391											
MYO1E	4643	broad.mit.edu	37	chr15	59506509	59506509	+	Frame_Shift_Del	DEL	T	T	-													tacaaaactgttcaaagccaTttttctggaaaaaaaaagtt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:59506508_59506508AT>A	uc002aga.3	-	11	1566	c.1194_1194AT>T	c.(1192-1194)aatfs	p.N398fs		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	Homo sapiens myosin IE (MYO1E), mRNA.	398	Myosin head-like.				actin filament-based movement	myosin complex	ATP binding|ATPase activity, coupled|actin binding|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GTTCAAAGCCATTTTTCTGGA	0.308													-	59506509	T	-	59506509	7	5	27	1	0	1	0	1	0	0	0	0	10072	1493	52	0	2201	0	MYO1E	15	59506509	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	5514	59506509	43024883	6441	30392											
FAM81A	145773	broad.mit.edu	37	chr15	59752285	59752285	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcggattaaagatgacatTgtcaacagtttgcagaaaat	8	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:59752285T>C	uc002agc.2	+	3	361	c.174T>C	c.(172-174)ATT>ATC	p.I58I	FAM81A_uc010uha.1_Silent_p.I58I	NM_152450	NP_689663	Q8TBF8	FA81A_HUMAN	hypothetical protein LOC145773	58										ovary(1)	1						AAGATGACATTGTCAACAGTT	0.502													C	59752285	T	C	59752285	2	2	27	1	0	0	0	0	0	0	0	1	5628	1800	63	3		3	FAM81A	15	59752285	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	245776	59752285	42779107	6442	30393											
NARG2	79664	broad.mit.edu	37	chr15	60741267	60741267	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatatactcgtttgataggTttttttaaaacacatgactc	5	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:60741267T>G	uc002agp.2	-	10	2134	c.1899A>C	c.(1897-1899)AAA>AAC	p.K633N	NARG2_uc002ago.2_Missense_Mutation_p.K496N|NARG2_uc002agq.3_Missense_Mutation_p.K301N	NM_024611	NP_078887	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	633						nucleus				ovary(1)|lung(1)	2						GTTTGATAGGTTTTTTTAAAA	0.378													G	60741267	T	G	60741267	3	3	27	1	0	0	0	0	1	0	0	0	10169	1722	60	5	1077	5	NARG2	15	60741267	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	988982	60741267	41790125	6443	30394											
VPS13C	54832	broad.mit.edu	37	chr15	62155653	62155653	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtacctatttgtaaccatAaggattgtcttcttgcttcc	6	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:62155653A>G	uc002agz.2	-	82	11012	c.10938T>C	c.(10936-10938)CTT>CTC	p.L3646L	VPS13C_uc002aha.2_Silent_p.L3603L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3646					protein localization					ovary(2)	2						TTGTAACCATAAGGATTGTCT	0.378													G	62155653	A	G	62155653	2	3	27	1	0	0	0	0	0	0	0	1	17188	349	13	3		3	VPS13C	15	62155653	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1414386	62155653	40375739	6444	30395											
VPS13C	54832	broad.mit.edu	37	chr15	62208153	62208153	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggactaattccattatttcAccactgattctcgaatgcag	6	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:62208153A>G	uc002agz.2	-	61	8198	c.8124T>C	c.(8122-8124)GGT>GGC	p.G2708G	VPS13C_uc002aha.2_Silent_p.G2665G|VPS13C_uc002ahb.1_Silent_p.G2708G|VPS13C_uc002ahc.1_Silent_p.G2665G|VPS13C_uc002ahd.1_Silent_p.G85G	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2708					protein localization					ovary(2)	2						CCATTATTTCACCACTGATTC	0.408													G	62208153	A	G	62208153	2	3	27	1	0	0	0	0	0	0	0	1	17188	146	6	3		3	VPS13C	15	62208153	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	52500	62208153	40323239	6445	30396											
VPS13C	54832	broad.mit.edu	37	chr15	62210431	62210431	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taacaaatttatagatgataAatgcaatggagaaatggttt	8	2	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:62210431A>G	uc002agz.2	-	59	7738	c.7664T>C	c.(7663-7665)TTT>TCT	p.F2555S	VPS13C_uc002aha.2_Missense_Mutation_p.F2512S|VPS13C_uc002ahb.1_Missense_Mutation_p.F2555S|VPS13C_uc002ahc.1_Missense_Mutation_p.F2512S|VPS13C_uc002ahd.1_5'Flank	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2555					protein localization					ovary(2)	2						ATAGATGATAAATGCAATGGA	0.323													G	62210431	A	G	62210431	3	3	27	1	0	0	0	0	1	0	0	0	17188	14	1	3	3733	3	VPS13C	15	62210431	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2278	62210431	40320961	6446	30397											
VPS13C	54832	broad.mit.edu	37	chr15	62251774	62251774	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgaatatcaggatggtagAtgcctggctggatcactgtc	13	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:62251774A>G	uc002agz.2	-	36	4003	c.3929T>C	c.(3928-3930)ATC>ACC	p.I1310T	VPS13C_uc002aha.2_Missense_Mutation_p.I1267T|VPS13C_uc002ahb.1_Missense_Mutation_p.I1310T|VPS13C_uc002ahc.1_Missense_Mutation_p.I1267T	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	1310					protein localization					ovary(2)	2						AGGATGGTAGATGCCTGGCTG	0.393													G	62251774	A	G	62251774	3	3	27	1	0	0	0	0	1	0	0	0	17188	333	12	3	7560	3	VPS13C	15	62251774	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	41343	62251774	40279618	6447	30398											
VPS13C	54832	broad.mit.edu	37	chr15	62253854	62253854	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggatttaagtagtctTcatcagacaccagactgaac	9	9	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:62253854T>C	uc002agz.2	-	35	3916	c.3842A>G	c.(3841-3843)GAA>GGA	p.E1281G	VPS13C_uc002aha.2_Missense_Mutation_p.E1238G|VPS13C_uc002ahb.1_Missense_Mutation_p.E1281G|VPS13C_uc002ahc.1_Missense_Mutation_p.E1238G	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	1281					protein localization					ovary(2)	2						TAAGTAGTCTTCATCAGACAC	0.363													C	62253854	T	C	62253854	3	2	27	1	0	0	0	0	1	0	0	0	17188	1783	62	3	7651	3	VPS13C	15	62253854	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2080	62253854	40277538	6448	30399											
TLN2	83660	broad.mit.edu	37	chr15	62945511	62945511	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caagctgcacacagatgatgAccgtaagtgtttgcagagga	12	8	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:62945511A>T	uc002alb.3	+	4	515	c.515A>T	c.(514-516)GAC>GTC	p.D172V		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	172	FERM.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						ACAGATGATGACCGTAAGTGT	0.473													T	62945511	A	T	62945511	3	4	27	1	0	0	0	0	1	0	0	0	15945	275	10	5	529	5	TLN2	15	62945511	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	691657	62945511	39585881	6449	30400											
TLN2	83660	broad.mit.edu	37	chr15	63031735	63031735	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcattgagatggctggCcaagctcaggtgggtgtgga	18	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:63031735C>T	uc002alb.3	+	28	3876	c.3876C>T	c.(3874-3876)GGC>GGT	p.G1292G	TLN2_uc002alc.3_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1292					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						AGATGGCTGGCCAAGCTCAGG	0.517													T	63031735	C	T	63031735	2	4	27	1	0	0	0	0	0	0	0	1	15945	726	26	2		2	TLN2	15	63031735	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	86224	63031735	39499657	6450	30401											
USP3	9960	broad.mit.edu	37	chr15	63862713	63862713	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacttcagggcggtttcaaCggtgtttcccgctcagcaat	11	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:63862713C>T	uc002amf.2	+	9	972	c.843C>T	c.(841-843)AAC>AAT	p.N281N	USP3_uc010uii.1_RNA|USP3_uc002amg.2_Silent_p.N196N|USP3_uc002amh.2_Silent_p.N259N|USP3_uc010uij.1_Silent_p.N237N|USP3_uc010uik.1_Silent_p.N32N|USP3_uc010bgs.2_Silent_p.N264N|USP3_uc002ami.2_Silent_p.N112N	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN	ubiquitin thiolesterase 3	281					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(80;0.0187)		GCGGTTTCAACGGTGTTTCCC	0.468													T	63862713	C	T	63862713	2	4	27	1	0	0	0	0	0	0	0	1	17057	535	19	1		1	USP3	15	63862713	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	830978	63862713	38668679	6451	30402											
HERC1	8925	broad.mit.edu	37	chr15	63904619	63904619	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcatccacctcacggTaccgcaccactttcttcaag	6	17	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:63904619T>C	uc002amp.2	-	77	14379	c.14231A>G	c.(14230-14232)TAC>TGC	p.Y4744C	HERC1_uc002amo.2_5'Flank	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	4744	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						CACCTCACGGTACCGCACCAC	0.552													C	63904619	T	C	63904619	3	2	27	1	0	0	0	0	1	0	0	0	7057	1638	57	3	362	3	HERC1	15	63904619	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	41906	63904619	38626773	6452	30403											
HERC1	8925	broad.mit.edu	37	chr15	63937702	63937702	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagccatcagtaactgcaaCttggatcctttccctggaag	9	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:63937702C>T	uc002amp.2	-	56	11206	c.11058G>A	c.(11056-11058)AAG>AAA	p.K3686K		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3686	WD 9.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						GTAACTGCAACTTGGATCCTT	0.438													T	63937702	C	T	63937702	2	4	27	1	0	0	0	0	0	0	0	1	7057	564	20	4		4	HERC1	15	63937702	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	33083	63937702	38593690	6453	30404											
HERC1	8925	broad.mit.edu	37	chr15	63950833	63950833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctccttaaagccaccacaCggtcatgagggtttgctagg	10	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:63950833C>T	uc002amp.2	-	48	9657	c.9509G>A	c.(9508-9510)CGT>CAT	p.R3170H		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3170					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						AGCCACCACACGGTCATGAGG	0.507													T	63950833	C	T	63950833	3	4	27	1	0	0	0	0	1	0	0	0	7057	536	19	1	5200	1	HERC1	15	63950833	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	13131	63950833	38580559	6454	30405											
HERC1	8925	broad.mit.edu	37	chr15	64011049	64011049	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgcaagaacaaatctagAcacagtgtccaagagtgact	9	9	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:64011049A>G	uc002amp.2	-	20	3938	c.3790T>C	c.(3790-3792)TCT>CCT	p.S1264P	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	1264					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						ACAAATCTAGACACAGTGTCC	0.368													G	64011049	A	G	64011049	3	3	27	1	0	0	0	0	1	0	0	0	7057	275	10	3	11031	3	HERC1	15	64011049	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	60216	64011049	38520343	6455	30406											
ZNF609	23060	broad.mit.edu	37	chr15	64915123	64915123	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccctgtgagcagatcatggTtcgtacccgatcagttgggg	13	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:64915123T>C	uc002ann.2	+	2	845	c.845T>C	c.(844-846)GTT>GCT	p.V282A		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	282						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CAGATCATGGTTCGTACCCGA	0.537													C	64915123	T	C	64915123	3	2	27	1	0	0	0	0	1	0	0	0	18032	1725	60	3	851	3	ZNF609	15	64915123	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	904074	64915123	37616269	6456	30407											
ZNF609	23060	broad.mit.edu	37	chr15	64973005	64973005	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtccacacaccaccaccAccaccacttggggtactcat	6	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:64973005A>G	uc002ann.2	+	7	4106	c.4106A>G	c.(4105-4107)CAC>CGC	p.H1369R		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	1369	Poly-His.					nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CACCACCACCACCACCACTTG	0.547													G	64973005	A	G	64973005	3	3	27	1	0	0	0	0	1	0	0	0	18032	159	6	3	4132	3	ZNF609	15	64973005	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	57882	64973005	37558387	6457	30408											
RBPMS2	348093	broad.mit.edu	37	chr15	65041207	65041207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgccactcacaggggtccCgtgcgatgaagtgtgctcct	13	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:65041207C>T	uc002anq.2	-	5	662	c.410G>A	c.(409-411)CGG>CAG	p.R137Q		NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	137							nucleic acid binding|nucleotide binding				0						ACAGGGGTCCCGTGCGATGAA	0.582													T	65041207	C	T	65041207	3	4	27	1	0	0	0	0	1	0	0	0	13164	652	23	1	231	1	RBPMS2	15	65041207	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	68202	65041207	37490185	6458	30409											
PIF1	80119	broad.mit.edu	37	chr15	65111388	65111388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtactggccagctcaggGttgctgtccatagcctcaaa	12	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:65111388G>A	uc002ant.2	-	9	1434	c.1368C>T	c.(1366-1368)AAC>AAT	p.N456N	PIF1_uc002anr.2_Silent_p.N4N|PIF1_uc002ans.2_Silent_p.N147N|PIF1_uc010uiq.1_Silent_p.N456N	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	DNA helicase homolog PIF1	456	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding				0						CCAGCTCAGGGTTGCTGTCCA	0.527													A	65111388	G	A	65111388	2	1	27	1	0	0	0	0	0	0	0	1	11883	1252	44	4		4	PIF1	15	65111388	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	70181	65111388	37420004	6459	30410											
PIF1	80119	broad.mit.edu	37	chr15	65112130	65112130	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggccacaatcccatctcGccccaccttgtgggaagctg	10	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:65112130G>A	uc002ant.2	-	8	1315	c.1249C>T	c.(1249-1251)CGA>TGA	p.R417*	PIF1_uc002anr.2_5'UTR|PIF1_uc002ans.2_Nonsense_Mutation_p.R108*|PIF1_uc010uiq.1_Nonsense_Mutation_p.R417*	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	DNA helicase homolog PIF1	417	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding				0						ATCCCATCTCGCCCCACCTTG	0.647													A	65112130	G	A	65112130	4	1	27	1	0	0	0	0	0	1	0	0	11883	1095	38	1	700	1	PIF1	15	65112130	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	742	65112130	37419262	6460	30411											
MTFMT	123263	broad.mit.edu	37	chr15	65308852	65308852	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttatacaactggtaccagcAgaaatcttaggggctacaag	9	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:65308852A>G	uc002aof.3	-	6	761	c.735T>C	c.(733-735)TCT>TCC	p.S245S		NM_139242	NP_640335	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	245						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			ovary(2)	2					Tetrahydrofolic acid(DB00116)	TGGTACCAGCAGAAATCTTAG	0.308													G	65308852	A	G	65308852	2	3	27	1	0	0	0	0	0	0	0	1	9924	175	7	3		3	MTFMT	15	65308852	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	196722	65308852	37222540	6461	30412											
DPP8	54878	broad.mit.edu	37	chr15	65746615	65746615	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acataccctgaagatatctgAcctctgcattaatgccatca	5	12	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:65746615A>G	uc002aov.2	-	17	3883	c.2305T>C	c.(2305-2307)TCA>CCA	p.S769P	DPP8_uc002aow.2_Missense_Mutation_p.S769P|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.S753P|DPP8_uc002aoy.2_Intron|DPP8_uc002aoz.2_Intron|DPP8_uc010bhj.2_Missense_Mutation_p.S769P|DPP8_uc002apa.2_Intron|DPP8_uc010bhi.2_Missense_Mutation_p.S72P|DPP8_uc010bhk.1_Missense_Mutation_p.S338P	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	dipeptidyl peptidase 8 isoform 1	769					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			ovary(1)	1						AAGATATCTGACCTCTGCATT	0.388													G	65746615	A	G	65746615	3	3	27	1	0	0	0	0	1	0	0	0	4732	275	10	3	407	3	DPP8	15	65746615	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	437763	65746615	36784777	6462	30413											
DENND4A	10260	broad.mit.edu	37	chr15	65956734	65956734	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatttctctgtataaactccTagggagaaaaagtcatggag	9	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:65956734T>C	uc002aph.2	-	31	5769	c.5391_splice	c.e31-1	p.R1797_splice	DENND4A_uc002api.2_Splice_Site_p.R1840_splice	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TATAAACTCCTAGGGAGAAAA	0.284													C	65956734	T	C	65956734	5	2	27	1	0	0	0	0	0	0	1	0	4433	1536	53	3	210	3	DENND4A	15	65956734	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	210119	65956734	36574658	6463	30414											
DENND4A	10260	broad.mit.edu	37	chr15	65983416	65983416	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttttgatacatctgtttcActgtctaagtcttctaagtc	6	9	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:65983416A>G	uc002aph.2	-	22	3762	c.3384T>C	c.(3382-3384)AGT>AGC	p.S1128S	DENND4A_uc002api.2_Silent_p.S1171S|DENND4A_uc002apj.3_Silent_p.S1128S	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						CATCTGTTTCACTGTCTAAGT	0.353													G	65983416	A	G	65983416	2	3	27	1	0	0	0	0	0	0	0	1	4433	156	6	3		3	DENND4A	15	65983416	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	26682	65983416	36547976	6464	30415											
RAB11A	8766	broad.mit.edu	37	chr15	66170134	66170134	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaggtgccttattggttTatgacattgctaaacatctc	8	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:66170134T>C	uc002apk.2	+	3	399	c.271T>C	c.(271-273)TAT>CAT	p.Y91H	RAB11A_uc010ujk.1_Missense_Mutation_p.Y91H	NM_004663	NP_004654	P62491	RB11A_HUMAN	Ras-related protein Rab-11A	91					cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding				0						CTTATTGGTTTATGACATTGC	0.378													C	66170134	T	C	66170134	3	2	27	1	0	0	0	0	1	0	0	0	12891	1754	61	3	281	3	RAB11A	15	66170134	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	186718	66170134	36361258	6465	30416											
SMAD6	4091	broad.mit.edu	37	chr15	67004051	67004051	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtctcctcgcgacgagtAcaagccactgggtaagtgtg	13	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:67004051A>G	uc002aqf.2	+	2	1786	c.863A>G	c.(862-864)TAC>TGC	p.Y288C	SMAD6_uc010bhx.2_RNA|SMAD6_uc002aqg.2_Missense_Mutation_p.Y27C	NM_005585	NP_005576	O43541	SMAD6_HUMAN	SMAD family member 6 isoform 1	288					BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			skin(1)	1						CGCGACGAGTACAAGCCACTG	0.572													G	67004051	A	G	67004051	3	3	27	1	0	0	0	0	1	0	0	0	14762	391	14	3	907	3	SMAD6	15	67004051	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	833917	67004051	35527341	6466	30417											
SMAD6	4091	broad.mit.edu	37	chr15	67008838	67008838	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctccgggtgaattctcaggTcagcattttttcttgtgcat	10	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:67008838T>C	uc002aqf.2	+	3	1875	c.952_splice	c.e3+2	p.D318_splice	SMAD6_uc010bhx.2_Splice_Site|SMAD6_uc002aqg.2_Splice_Site_p.D57_splice	NM_005585	NP_005576	O43541	SMAD6_HUMAN	SMAD family member 6 isoform 1						BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			skin(1)	1						AATTCTCAGGTCAGCATTTTT	0.473													C	67008838	T	C	67008838	5	2	27	1	0	0	0	0	0	0	1	0	14762	1681	58	3	1002	3	SMAD6	15	67008838	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4787	67008838	35522554	6467	30418											
SMAD3	4088	broad.mit.edu	37	chr15	67482849	67482849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccagatgggctccccaaGcatccgctgttccagtgtgt	10	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:67482849G>A	uc002aqj.2	+	9	1551	c.1253G>A	c.(1252-1254)AGC>AAC	p.S418N	SMAD3_uc010ujr.1_Missense_Mutation_p.S313N|SMAD3_uc010ujs.1_Missense_Mutation_p.S374N|SMAD3_uc010ujt.1_Missense_Mutation_p.S223N	NM_005902	NP_005893	P84022	SMAD3_HUMAN	mothers against decapentaplegic homolog 3	418	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GGCTCCCCAAGCATCCGCTGT	0.547													A	67482849	G	A	67482849	3	1	27	1	0	0	0	0	1	0	0	0	14759	971	34	2	1365	2	SMAD3	15	67482849	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	474011	67482849	35048543	6468	30419											
AAGAB	79719	broad.mit.edu	37	chr15	67528390	67528390	+	Frame_Shift_Del	DEL	T	T	-													ttgatgcaccattcttgagcTttttgtcggtttatacctaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:67528389_67528389CT>C	uc002aqk.4	-	3	484	c.379_379AG>G	c.(379-381)gctfs	p.A127fs	AAGAB_uc010uju.2_Frame_Shift_Del_p.A18fs	NM_024666	NP_078942	Q6PD74	AAGAB_HUMAN	Homo sapiens alpha- and gamma-adaptin binding protein (AAGAB), mRNA.	127					protein transport	cytoplasm				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						CATTCTTGAGCTTTTTGTCGG	0.333													-	67528390	T	-	67528390	7	5	27	1	0	1	0	1	0	0	0	0	15	1606	56	0	597	0	AAGAB	15	67528390	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	45541	67528390	35003002	6469	30420											
IQCH	64799	broad.mit.edu	37	chr15	67692609	67692609	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctaaaggagagtagcagatAtggccttgaagactggagaa	14	5	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:67692609A>G	uc002aqo.1	+	14	2110	c.2063A>G	c.(2062-2064)TAT>TGT	p.Y688C	IQCH_uc002aqq.1_Missense_Mutation_p.Y345C|IQCH_uc002aqp.1_Missense_Mutation_p.Y349C	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	688										skin(3)|ovary(1)	4				Colorectal(3;0.0856)		AGTAGCAGATATGGCCTTGAA	0.433													G	67692609	A	G	67692609	3	3	27	1	0	0	0	0	1	0	0	0	7811	449	16	3	2245	3	IQCH	15	67692609	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	164219	67692609	34838783	6470	30421											
LBXCOR1	390598	broad.mit.edu	37	chr15	68118726	68118726	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcgatgtggtgcacgagtGcgcgtggggctcgcgtggta	18	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:68118726G>T	uc002aqy.1	+	2	533	c.533G>T	c.(532-534)TGC>TTC	p.C178F		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	187					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0						GTGCACGAGTGCGCGTGGGGC	0.597													T	68118726	G	T	68118726	3	4	27	1	0	0	0	0	1	0	0	0	8655	1319	46	5	539	5	LBXCOR1	15	68118726	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	426117	68118726	34412666	6471	30422											
PIAS1	8554	broad.mit.edu	37	chr15	68378875	68378875	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtacattcaagtcctatgCcagcaactttgtctccatct	5	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:68378875C>A	uc002aqz.2	+	2	352	c.256C>A	c.(256-258)CCA>ACA	p.P86T	PIAS1_uc010ujx.1_Missense_Mutation_p.P86T	NM_016166	NP_057250	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	86					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						AAGTCCTATGCCAGCAACTTT	0.468													A	68378875	C	A	68378875	3	1	27	1	0	0	0	0	1	0	0	0	11875	739	26	5	262	5	PIAS1	15	68378875	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	260149	68378875	34152517	6472	30423											
PIAS1	8554	broad.mit.edu	37	chr15	68438930	68438930	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccacctacaaaaaatggCgtggaaccaaagcgacccag	8	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:68438930C>T	uc002aqz.2	+	6	816	c.720C>T	c.(718-720)GGC>GGT	p.G240G	PIAS1_uc010ujx.1_Silent_p.G240G	NM_016166	NP_057250	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	240	PINIT.				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						CAAAAAATGGCGTGGAACCAA	0.373													T	68438930	C	T	68438930	2	4	27	1	0	0	0	0	0	0	0	1	11875	755	27	1		1	PIAS1	15	68438930	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	60055	68438930	34092462	6473	30424											
PIAS1	8554	broad.mit.edu	37	chr15	68479890	68479892	+	In_Frame_Del	DEL	CCT	CCT	-													ccctccctagcattacaacaCctccttgcttgccgctgcag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:68479889_68479891ACCT>A	uc002aqz.3	+	13	1765_1767	c.1672_1674ACCT>A	c.(1672-1674)acc>A	p.T558del		NM_016166	NP_057250	O75925	PIAS1_HUMAN	Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA.	558	4 X 4 AA repeats of N-T-S-L.				JAK-STAT cascade|androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|enzyme binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GCATTACAACACCTCCTTGCTTG	0.429													-	68479892	CCT	-	68479890	7	5	27	1	0	1	0	1	0	0	0	0	11875	507	18	0	1727	0	PIAS1	15	68479890	In_Frame_Del	DEL	CCT	TCGA-BR-6452-01A-12D-1800-08	40960	68479890	34051502	6474	30425											
ITGA11	22801	broad.mit.edu	37	chr15	68608055	68608055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaactcaaaatcaagaCggaaagccacctgcaaggaa	9	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:68608055C>T	uc002ari.2	-	22	2813	c.2726G>A	c.(2725-2727)CGT>CAT	p.R909H	ITGA11_uc010bib.2_Missense_Mutation_p.R909H	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	909	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	AAAATCAAGACGGAAAGCCAC	0.612													T	68608055	C	T	68608055	3	4	27	1	0	0	0	0	1	0	0	0	7874	536	19	1	876	1	ITGA11	15	68608055	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	128165	68608055	33923337	6475	30426											
GLCE	26035	broad.mit.edu	37	chr15	69548299	69548299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggcttcagagtggatgggTttgaaaaaagagcagcagca	15	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:69548299T>C	uc002ary.1	+	3	382	c.154T>C	c.(154-156)TTT>CTT	p.F52L		NM_015554	NP_056369	O94923	GLCE_HUMAN	D-glucuronyl C5-epimerase	52	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			ovary(2)	2						AGTGGATGGGTTTGAAAAAAG	0.463													C	69548299	T	C	69548299	3	2	27	1	0	0	0	0	1	0	0	0	6432	1725	60	3	156	3	GLCE	15	69548299	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	940244	69548299	32983093	6476	30427											
KIF23	9493	broad.mit.edu	37	chr15	69737152	69737152	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctttcaacctgatcagaaCgcaccaccaattcgtctccg	5	16	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:69737152C>T	uc002asb.2	+	19	2520	c.2403C>T	c.(2401-2403)AAC>AAT	p.N801N	KIF23_uc002asc.2_Silent_p.N697N|KIF23_uc010bii.2_Intron|KIF23_uc010ukc.1_Silent_p.N514N	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	801					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0						CTGATCAGAACGCACCACCAA	0.443													T	69737152	C	T	69737152	2	4	27	1	0	0	0	0	0	0	0	1	8291	535	19	1		1	KIF23	15	69737152	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	188853	69737152	32794240	6477	30428											
RPLP1	6176	broad.mit.edu	37	chr15	69747800	69747800	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggaagcaaagaaagaagAatccgaggagtctgatgatg	14	4	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:69747800A>G	uc002asd.1	+	4	428	c.299A>G	c.(298-300)GAA>GGA	p.E100G	RPLP1_uc002ase.1_Missense_Mutation_p.E75G	NM_001003	NP_000994	P05386	RLA1_HUMAN	ribosomal protein P1 isoform 1	100					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0						AAGAAAGAAGAATCCGAGGAG	0.358													G	69747800	A	G	69747800	3	3	27	1	0	0	0	0	1	0	0	0	13605	246	9	3	313	3	RPLP1	15	69747800	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	10648	69747800	32783592	6478	30429											
THAP10	56906	broad.mit.edu	37	chr15	71184328	71184328	+	Frame_Shift_Del	DEL	G	G	-													cctctcccctcttaggtgccGgggcgggcacccggtgcagg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:71184328delG	uc002asv.2	-	1	426	c.284delC	c.(283-285)CCGfs	p.P95fs	LRRC49_uc002asu.2_Intron|LRRC49_uc002asw.2_5'Flank|LRRC49_uc002asx.2_5'Flank|LRRC49_uc010ukf.1_5'Flank	NM_020147	NP_064532	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	95							DNA binding|metal ion binding			ovary(1)|skin(1)	2						CTTAGGTGCCGGGGCGGGCAC	0.667													-	71184328	G	-	71184328	7	5	27	1	0	1	0	1	0	0	0	0	15839	1116	39	0	501	0	THAP10	15	71184328	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	1436528	71184328	31347064	6479	30430											
LRRC49	54839	broad.mit.edu	37	chr15	71196973	71196973	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacacaattttataactcggAtacaaaatatttctaatcta	2	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:71196973A>T	uc002asw.2	+	5	626	c.379A>T	c.(379-381)ATA>TTA	p.I127L	LRRC49_uc002asu.2_Missense_Mutation_p.I117L|LRRC49_uc002asx.2_Missense_Mutation_p.I83L|LRRC49_uc010ukf.1_Missense_Mutation_p.I132L|LRRC49_uc002asy.2_5'UTR|LRRC49_uc002asz.2_Missense_Mutation_p.I99L	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	127	LRR 1.					cytoplasm|microtubule				ovary(1)	1						TATAACTCGGATACAAAATAT	0.338													T	71196973	A	T	71196973	3	4	27	1	0	0	0	0	1	0	0	0	9006	333	12	5	397	5	LRRC49	15	71196973	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	12645	71196973	31334419	6480	30431											
THSD4	79875	broad.mit.edu	37	chr15	72050275	72050275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggccggagtgcggacacGctcggtggtgtgcatgacca	18	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:72050275G>A	uc002atb.1	+	14	2529	c.2450G>A	c.(2449-2451)CGC>CAC	p.R817H	THSD4_uc002ate.2_Missense_Mutation_p.R457H|THSD4_uc002atg.1_Missense_Mutation_p.R20H	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	817	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						GTGCGGACACGCTCGGTGGTG	0.637													A	72050275	G	A	72050275	3	1	27	1	0	0	0	0	1	0	0	0	15875	1087	38	1	2504	1	THSD4	15	72050275	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	853302	72050275	30481117	6481	30432											
MYO9A	4649	broad.mit.edu	37	chr15	72286859	72286859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagaagtgcatgattaattCgaaaaactatccagtcaaac	6	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:72286859C>T	uc002atl.3	-	10	2011	c.1538G>A	c.(1537-1539)CGA>CAA	p.R513Q	MYO9A_uc010biq.2_Missense_Mutation_p.R108Q|MYO9A_uc002ato.2_Missense_Mutation_p.R513Q|MYO9A_uc002atn.1_Missense_Mutation_p.R494Q	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	513	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						ATGATTAATTCGAAAAACTAT	0.338													T	72286859	C	T	72286859	3	4	27	1	0	0	0	0	1	0	0	0	10084	884	31	1	6240	1	MYO9A	15	72286859	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	236584	72286859	30244533	6482	30433											
GRAMD2	196996	broad.mit.edu	37	chr15	72455965	72455965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaacttaccagacattggaGgcttcctggaggggaagaaa	13	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:72455965G>A	uc002atq.2	-	9	758	c.734C>T	c.(733-735)CCT>CTT	p.P245L	GRAMD2_uc010bis.2_Missense_Mutation_p.P245L|GRAMD2_uc010ukh.1_Missense_Mutation_p.P39L	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	245						integral to membrane					0						AGACATTGGAGGCTTCCTGGA	0.537													A	72455965	G	A	72455965	3	1	27	1	0	0	0	0	1	0	0	0	6750	1000	35	4	346	4	GRAMD2	15	72455965	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	169106	72455965	30075427	6483	30434											
PKM2	5315	broad.mit.edu	37	chr15	72501124	72501124	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaacttcagatcctggatgTccttctccgacacagcaggc	8	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:72501124T>C	uc002atx.1	-	6	915	c.674A>G	c.(673-675)GAC>GGC	p.D225G	PKM2_uc002ats.1_5'Flank|PKM2_uc002att.1_5'UTR|PKM2_uc002atu.1_5'UTR|PKM2_uc010bit.1_Missense_Mutation_p.D230G|PKM2_uc010uki.1_Missense_Mutation_p.D299G|PKM2_uc002atv.1_Missense_Mutation_p.D260G|PKM2_uc002atw.1_Missense_Mutation_p.D225G|PKM2_uc002aty.1_Missense_Mutation_p.D225G|PKM2_uc010ukj.1_Missense_Mutation_p.D210G|PKM2_uc010ukk.1_Missense_Mutation_p.D151G|PKM2_uc010biu.1_Missense_Mutation_p.D246G|PKM2_uc002atz.1_RNA	NM_182471	NP_872271	P14618	KPYM_HUMAN	pyruvate kinase, muscle isoform M1	225					glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)	1					Pyruvic acid(DB00119)	ATCCTGGATGTCCTTCTCCGA	0.537													C	72501124	T	C	72501124	3	2	27	1	0	0	0	0	1	0	0	0	11977	1667	58	3	1116	3	PKM2	15	72501124	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	45159	72501124	30030268	6484	30435											
PARP6	56965	broad.mit.edu	37	chr15	72552962	72552962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggttcatgaggcgcccaaCccgaagctctggtacaccta	10	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:72552962C>T	uc002auc.2	-	9	1072	c.613G>A	c.(613-615)GTT>ATT	p.V205I	PARP6_uc002aua.2_Missense_Mutation_p.V70I|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.V205I	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	205							NAD+ ADP-ribosyltransferase activity				0						AGGCGCCCAACCCGAAGCTCT	0.537													T	72552962	C	T	72552962	3	4	27	1	0	0	0	0	1	0	0	0	11464	507	18	4	1339	4	PARP6	15	72552962	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	51838	72552962	29978430	6485	30436											
CELF6	60677	broad.mit.edu	37	chr15	72580706	72580706	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactttagcagagacaacggCtccaaagggcaggaatgtct	12	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:72580706C>A	uc002auh.2	-	11	1571	c.1261G>T	c.(1261-1263)GCC>TCC	p.A421S	uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010biw.2_Missense_Mutation_p.A308S|CELF6_uc010ukl.1_Missense_Mutation_p.A284S|CELF6_uc010ukm.1_Missense_Mutation_p.A394S|CELF6_uc002aui.2_Missense_Mutation_p.A527S|CELF6_uc002auj.2_Missense_Mutation_p.A308S	NM_052840	NP_443072	Q96J87	CELF6_HUMAN	bruno-like 6, RNA binding protein	421	RRM 3.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3						GAGACAACGGCTCCAAAGGGC	0.527													A	72580706	C	A	72580706	3	1	27	1	0	0	0	0	1	0	0	0	3220	797	28	5	192	5	CELF6	15	72580706	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	27744	72580706	29950686	6486	30437											
NEO1	4756	broad.mit.edu	37	chr15	73542047	73542047	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacaccagatgttgctgttCgaacattgtcagatggtgag	11	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:73542047C>T	uc002avm.3	+	11	2021	c.1879C>T	c.(1879-1881)CGA>TGA	p.R627*	NEO1_uc010ukx.1_Nonsense_Mutation_p.R627*|NEO1_uc010uky.1_Nonsense_Mutation_p.R627*|NEO1_uc010ukz.1_Nonsense_Mutation_p.R51*|NEO1_uc002avn.3_Nonsense_Mutation_p.R292*	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	627	Extracellular (Potential).|Fibronectin type-III 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						TGTTGCTGTTCGAACATTGTC	0.348													T	73542047	C	T	73542047	4	4	27	1	0	0	0	0	0	1	0	0	10336	876	31	1	1921	1	NEO1	15	73542047	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	961341	73542047	28989345	6487	30438											
NEO1	4756	broad.mit.edu	37	chr15	73547093	73547093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattactggctacaagattcGctaccgaaaggcctcccgaa	9	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:73547093G>A	uc002avm.3	+	13	2157	c.2015G>A	c.(2014-2016)CGC>CAC	p.R672H	NEO1_uc010ukx.1_Missense_Mutation_p.R672H|NEO1_uc010uky.1_Missense_Mutation_p.R672H|NEO1_uc010ukz.1_Missense_Mutation_p.R96H|NEO1_uc002avn.3_Missense_Mutation_p.R337H	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	672	Extracellular (Potential).|Fibronectin type-III 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						TACAAGATTCGCTACCGAAAG	0.488													A	73547093	G	A	73547093	3	1	27	1	0	0	0	0	1	0	0	0	10336	1087	38	1	2065	1	NEO1	15	73547093	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5046	73547093	28984299	6488	30439											
NEO1	4756	broad.mit.edu	37	chr15	73575319	73575319	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgcaggcagtaacagccctCatgggagccccacctctcct	9	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:73575319C>T	uc002avm.3	+	23	3419	c.3277C>T	c.(3277-3279)CAT>TAT	p.H1093Y	NEO1_uc010ukx.1_Missense_Mutation_p.H1082Y|NEO1_uc010uky.1_Missense_Mutation_p.H1093Y|NEO1_uc010ukz.1_Missense_Mutation_p.H506Y|NEO1_uc002avn.3_Missense_Mutation_p.H731Y	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	1093	Extracellular (Potential).				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						TAACAGCCCTCATGGGAGCCC	0.443													T	73575319	C	T	73575319	3	4	27	1	0	0	0	0	1	0	0	0	10336	826	29	4	3367	4	NEO1	15	73575319	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	28226	73575319	28956073	6489	30440											
HCN4	10021	broad.mit.edu	37	chr15	73615063	73615063	+	Frame_Shift_Del	DEL	C	C	-													tcccactgcccccgctgccaCccccagccctggggaagagc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:73615063delC	uc002avp.2	-	8	4365	c.3371delG	c.(3370-3372)GGTfs	p.G1124fs		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	1124	Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		CCCGCTGCCACCCCCAGCCCT	0.721													-	73615063	C	-	73615063	7	5	27	1	0	1	0	1	0	0	0	0	6999	507	18	0	244	0	HCN4	15	73615063	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	39744	73615063	28916329	6490	30441											
HCN4	10021	broad.mit.edu	37	chr15	73635998	73635998	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgatccctgtgcggaagtTgaggaccaagtcgatgagga	14	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:73635998T>C	uc002avp.2	-	2	1931	c.937A>G	c.(937-939)AAC>GAC	p.N313D		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	313	Helical; Name=Segment S2; (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		GTGCGGAAGTTGAGGACCAAG	0.488													C	73635998	T	C	73635998	3	2	27	1	0	0	0	0	1	0	0	0	6999	1812	63	3	2702	3	HCN4	15	73635998	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	20935	73635998	28895394	6491	30442											
CD276	80381	broad.mit.edu	37	chr15	73994658	73994658	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtgggcaccgatgccaccCtgtgctgctccttctcccct	10	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:73994658C>A	uc002avv.1	+	3	376	c.142C>A	c.(142-144)CTG>ATG	p.L48M	CD276_uc010bjd.1_Translation_Start_Site|CD276_uc002avu.1_Missense_Mutation_p.L48M|CD276_uc002avw.1_Missense_Mutation_p.L48M|CD276_uc010ulb.1_Intron|CD276_uc002avx.2_5'Flank	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	CD276 antigen isoform a	48	Ig-like V-type 1.|Extracellular (Potential).				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			skin(1)	1						CGATGCCACCCTGTGCTGCTC	0.607													A	73994658	C	A	73994658	3	1	27	1	0	0	0	0	1	0	0	0	2992	680	24	5	148	5	CD276	15	73994658	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	358660	73994658	28536734	6492	30443											
ISLR2	57611	broad.mit.edu	37	chr15	74427037	74427037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccgcagacttcgacccgCgtgcttcgtacctcgagtcc	10	17	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:74427037C>T	uc002axd.2	+	4	2711	c.1942C>T	c.(1942-1944)CGT>TGT	p.R648C	ISLR2_uc002axe.2_Missense_Mutation_p.R648C|ISLR2_uc010bjg.2_Missense_Mutation_p.R648C|ISLR2_uc010bjf.2_Missense_Mutation_p.R648C	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	648	Cytoplasmic (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						CTTCGACCCGCGTGCTTCGTA	0.667											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	74427037	C	T	74427037	3	4	27	1	0	0	0	0	1	0	0	0	7859	768	27	1	1944	1	ISLR2	15	74427037	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	432379	74427037	28104355	6493	30444											
ISLR2	57611	broad.mit.edu	37	chr15	74427273	74427273	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgatcggctgcccctgggCgccgaggcggtcaacatcgc	15	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:74427273C>T	uc002axd.2	+	4	2947	c.2178C>T	c.(2176-2178)GGC>GGT	p.G726G	ISLR2_uc002axe.2_Silent_p.G726G|ISLR2_uc010bjg.2_Silent_p.G726G|ISLR2_uc010bjf.2_Silent_p.G726G	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	726	Cytoplasmic (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						TGCCCCTGGGCGCCGAGGCGG	0.662											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	74427273	C	T	74427273	2	4	27	1	0	0	0	0	0	0	0	1	7859	755	27	1		1	ISLR2	15	74427273	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	236	74427273	28104119	6494	30445											
CCDC33	80125	broad.mit.edu	37	chr15	74565210	74565210	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaactttgacgtgcctcgcgTcagccagaacggatgccctc	11	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:74565210T>C	uc002axo.2	+	7	1131	c.737T>C	c.(736-738)GTC>GCC	p.V246A	CCDC33_uc002axp.2_Missense_Mutation_p.V68A	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	449							protein binding			ovary(3)|skin(2)	5						GTGCCTCGCGTCAGCCAGAAC	0.577													C	74565210	T	C	74565210	3	2	27	1	0	0	0	0	1	0	0	0	2806	1667	58	3	763	3	CCDC33	15	74565210	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	137937	74565210	27966182	6495	30446											
SEMA7A	8482	broad.mit.edu	37	chr15	74708178	74708178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccatagaccctggtgtccCtccactggccgctggggtca	11	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:74708178C>A	uc002axv.2	-	8	990	c.950G>T	c.(949-951)AGG>ATG	p.R317M	SEMA7A_uc010ulk.1_Missense_Mutation_p.R152M|SEMA7A_uc010ull.1_Missense_Mutation_p.R303M	NM_003612	NP_003603	O75326	SEM7A_HUMAN	semaphorin 7A isoform 1 preproprotein	317	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(1)|central_nervous_system(1)	2						CCTGGTGTCCCTCCACTGGCC	0.587													A	74708178	C	A	74708178	3	1	27	1	0	0	0	0	1	0	0	0	14043	681	24	5	1078	5	SEMA7A	15	74708178	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	142968	74708178	27823214	6496	30447											
UBL7	84993	broad.mit.edu	37	chr15	74741564	74741564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgtgagagctgctctccGgagtgctggccagggccaag	17	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:74741564G>A	uc002axw.1	-	9	1007	c.845C>T	c.(844-846)CCG>CTG	p.P282L	UBL7_uc002axx.1_Missense_Mutation_p.P322L|UBL7_uc010bjr.1_Missense_Mutation_p.P173L|UBL7_uc002axy.1_Missense_Mutation_p.P282L|UBL7_uc002axz.1_Missense_Mutation_p.P282L	NM_032907	NP_116296	Q96S82	UBL7_HUMAN	ubiquitin-like 7	282							protein binding			ovary(1)	1						GCTGCTCTCCGGAGTGCTGGC	0.682													A	74741564	G	A	74741564	3	1	27	1	0	0	0	0	1	0	0	0	16887	1116	39	1	309	1	UBL7	15	74741564	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	33386	74741564	27789828	6497	30448											
ARID3B	10620	broad.mit.edu	37	chr15	74888103	74888103	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgcagagccctccaccagCtggtccctctgatgggcagg	13	15	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:74888103C>A	uc002aye.2	+	9	1875	c.1674C>A	c.(1672-1674)AGC>AGA	p.S558R	ARID3B_uc002ayd.2_Missense_Mutation_p.S557R|CLK3_uc002ayf.1_5'Flank	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B	558	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						CCTCCACCAGCTGGTCCCTCT	0.517													A	74888103	C	A	74888103	3	1	27	1	0	0	0	0	1	0	0	0	917	796	28	5	1701	5	ARID3B	15	74888103	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	146539	74888103	27643289	6498	30449											
LMAN1L	79748	broad.mit.edu	37	chr15	75117871	75117871	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacaggcagccttcctctGggtcctgcaccacacacccc	7	20	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:75117871G>A	uc002ayt.1	+	14	1508	c.1506G>A	c.(1504-1506)CTG>CTA	p.L502L	LMAN1L_uc010bke.1_Silent_p.L490L|CPLX3_uc002ayu.1_5'Flank	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like precursor	502	Cytoplasmic (Potential).					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0						GCCTTCCTCTGGGTCCTGCAC	0.597													A	75117871	G	A	75117871	2	1	27	1	0	0	0	0	0	0	0	1	8837	1335	47	4		4	LMAN1L	15	75117871	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	229768	75117871	27413521	6499	30450											
NEIL1	79661	broad.mit.edu	37	chr15	75646609	75646609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggatcctggaccgttgGcacccaaaggtaagctactc	13	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:75646609G>A	uc002bad.2	+	7	1371	c.865G>A	c.(865-867)GCA>ACA	p.A289T	NEIL1_uc002bae.2_Missense_Mutation_p.A375T|MIR631_hsa-mir-631|MI0003645_5'Flank	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1	289					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			ovary(1)	1						TGGACCGTTGGCACCCAAAGG	0.547								BER_DNA_glycosylases					A	75646609	G	A	75646609	3	1	27	1	0	0	0	0	1	0	0	0	10318	1203	42	2	887	2	NEIL1	15	75646609	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	528738	75646609	26884783	6500	30451											
MAN2C1	4123	broad.mit.edu	37	chr15	75648486	75648486	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggcagcgacaagtgcagCcagcagtccacgtggctgcc	13	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:75648486C>T	uc002baf.2	-	25	2978	c.2961G>A	c.(2959-2961)TGG>TGA	p.W987*	MIR631_hsa-mir-631|MI0003645_5'Flank|MAN2C1_uc002bag.2_Nonsense_Mutation_p.W964*|MAN2C1_uc002bah.2_Nonsense_Mutation_p.W1004*|MAN2C1_uc010bkk.2_Nonsense_Mutation_p.W888*	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	987					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						ACAAGTGCAGCCAGCAGTCCA	0.682													T	75648486	C	T	75648486	4	4	27	1	0	0	0	0	0	1	0	0	9218	740	26	2	169	2	MAN2C1	15	75648486	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1877	75648486	26882906	6501	30452											
SIN3A	25942	broad.mit.edu	37	chr15	75694249	75694249	+	Frame_Shift_Del	DEL	A	A	-													cgagagatcacctcctggttAaaaataacaagacagcgtag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:75694248_75694248TA>T	uc002bai.3	-	9	1730	c.1471_1471TA>A	c.(1471-1473)aacfs	p.N491fs	SIN3A_uc002baj.3_Frame_Shift_Del_p.N491fs|SIN3A_uc010uml.2_Frame_Shift_Del_p.N491fs	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	491	Interaction with SAP30 (By similarity).|PAH 3.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ACCTCCTGGTTAAAAATAACA	0.468													-	75694249	A	-	75694249	7	5	27	1	0	1	0	1	0	0	0	0	14325	359	13	0	2399	0	SIN3A	15	75694249	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	45763	75694249	26837143	6502	30453											
CSPG4	1464	broad.mit.edu	37	chr15	75969124	75969124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggaagatgcctgccacGctgctcccgttggccacgaa	12	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:75969124G>A	uc002baw.2	-	10	5829	c.5736C>T	c.(5734-5736)AGC>AGT	p.S1912S		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1912	CSPG 13.|Extracellular (Potential).|Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						TGCCTGCCACGCTGCTCCCGT	0.667													A	75969124	G	A	75969124	2	1	27	1	0	0	0	0	0	0	0	1	3960	1078	38	1		1	CSPG4	15	75969124	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	274875	75969124	26562268	6503	30454											
TSPAN3	10099	broad.mit.edu	37	chr15	77348527	77348527	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcgtgtacacatcttcaAagaagtggtcatagtcatca	9	8	5	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:77348527A>G	uc002bcj.2	-	2	351	c.134T>C	c.(133-135)TTT>TCT	p.F45S	TSPAN3_uc002bck.2_Missense_Mutation_p.F45S|TSPAN3_uc010ump.1_Intron|TSPAN3_uc010bkx.2_Intron	NM_005724	NP_005715	O60637	TSN3_HUMAN	transmembrane 4 superfamily member 8 isoform 1	45	Extracellular (Potential).					integral to membrane					0				all cancers(203;1.14e-19)		CACATCTTCAAAGAAGTGGTC	0.468													G	77348527	A	G	77348527	3	3	27	1	0	0	0	0	1	0	0	0	16642	14	1	3	651	3	TSPAN3	15	77348527	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1379403	77348527	25182865	6504	30455											
CIB2	10518	broad.mit.edu	37	chr15	78398176	78398176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcctcaatgaccttgtcGcacacaagcaccacctcctc	5	19	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:78398176G>A	uc002bdb.1	-	5	768	c.447C>T	c.(445-447)TGC>TGT	p.C149C	CIB2_uc002bdc.1_Silent_p.C106C|CIB2_uc010ums.1_Silent_p.C149C	NM_006383	NP_006374	O75838	CIB2_HUMAN	DNA-dependent protein kinase catalytic	149	EF-hand 3.						calcium ion binding				0						TGACCTTGTCGCACACAAGCA	0.567													A	78398176	G	A	78398176	2	1	27	1	0	0	0	0	0	0	0	1	3421	1079	38	1		1	CIB2	15	78398176	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1049649	78398176	24133216	6505	30456											
WDR61	80349	broad.mit.edu	37	chr15	78582013	78582013	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatcaaaaatattgatgatTccatctatggctccactggc	6	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:78582013T>C	uc002bdn.2	-	7	586	c.510A>G	c.(508-510)GGA>GGG	p.G170G	WDR61_uc002bdo.2_Silent_p.G170G	NM_025234	NP_079510	Q9GZS3	WDR61_HUMAN	WD repeat domain 61	170	WD 4.						protein binding			ovary(1)|skin(1)	2						TATTGATGATTCCATCTATGG	0.383													C	78582013	T	C	78582013	2	2	27	1	0	0	0	0	0	0	0	1	17309	1770	62	3		3	WDR61	15	78582013	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	183837	78582013	23949379	6506	30457											
WDR61	80349	broad.mit.edu	37	chr15	78582045	78582045	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccactggctaggtatttccCatcaggactctgttcagaga	9	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:78582045C>A	uc002bdn.2	-	7	554	c.478G>T	c.(478-480)GGG>TGG	p.G160W	WDR61_uc002bdo.2_Missense_Mutation_p.G160W	NM_025234	NP_079510	Q9GZS3	WDR61_HUMAN	WD repeat domain 61	160	WD 4.						protein binding			ovary(1)|skin(1)	2						AGGTATTTCCCATCAGGACTC	0.408													A	78582045	C	A	78582045	3	1	27	1	0	0	0	0	1	0	0	0	17309	594	21	5	459	5	WDR61	15	78582045	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	32	78582045	23949347	6507	30458											
IREB2	3658	broad.mit.edu	37	chr15	78732142	78732142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatttttttttcaggatacGcctttgagtaccttattgaa	6	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:78732142G>A	uc002bdr.2	+	2	187	c.25G>A	c.(25-27)GCC>ACC	p.A9T	IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.2_Missense_Mutation_p.A9T	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	9							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TTCAGGATACGCCTTTGAGTA	0.269													A	78732142	G	A	78732142	3	1	27	1	0	0	0	0	1	0	0	0	7826	1087	38	1	31	1	IREB2	15	78732142	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	150097	78732142	23799250	6508	30459											
PSMA4	5685	broad.mit.edu	37	chr15	78834954	78834954	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacaagcttcttgatgaagTctttttttctgaaaaaattt	5	7	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:78834954T>C	uc002bdu.3	+	4	334	c.176T>C	c.(175-177)GTC>GCC	p.V59A	PSMA4_uc010blf.2_Missense_Mutation_p.V59A|PSMA4_uc002bdv.3_Intron|PSMA4_uc002bdw.3_Missense_Mutation_p.V35A|PSMA4_uc002bdx.3_Intron	NM_002789	NP_002780	P25789	PSA4_HUMAN	proteasome alpha 4 subunit isoform 1	59					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity				0						CTTGATGAAGTCTTTTTTTCT	0.353													C	78834954	T	C	78834954	3	2	27	1	0	0	0	0	1	0	0	0	12669	1667	58	3	186	3	PSMA4	15	78834954	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	102812	78834954	23696438	6509	30460											
PSMA4	5685	broad.mit.edu	37	chr15	78837210	78837210	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccatctctttatcctaGgtatttattacagtatcagg	7	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:78837210G>T	uc002bdu.3	+	6	446	c.288_splice	c.e6-1	p.R96_splice	PSMA4_uc010blf.2_Splice_Site_p.R96_splice|PSMA4_uc002bdv.3_Splice_Site_p.R25_splice|PSMA4_uc002bdw.3_Splice_Site_p.R72_splice|PSMA4_uc002bdx.3_Splice_Site_p.R25_splice	NM_002789	NP_002780	P25789	PSA4_HUMAN	proteasome alpha 4 subunit isoform 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity				0						CTTTATCCTAGGTATTTATTA	0.373													T	78837210	G	T	78837210	5	4	27	1	0	0	0	0	0	0	1	0	12669	1014	35	5	305	5	PSMA4	15	78837210	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2256	78837210	23694182	6510	30461											
PSMA4	5685	broad.mit.edu	37	chr15	78841185	78841185	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacagtaatcagagttctcAaacaaaaagaagtggagcag	10	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:78841185A>G	uc002bdu.3	+	9	843	c.685A>G	c.(685-687)AAA>GAA	p.K229E	PSMA4_uc010blf.2_Missense_Mutation_p.K229E|PSMA4_uc002bdv.3_Missense_Mutation_p.K158E|PSMA4_uc002bdw.3_Missense_Mutation_p.K205E|PSMA4_uc002bdx.3_Missense_Mutation_p.K158E	NM_002789	NP_002780	P25789	PSA4_HUMAN	proteasome alpha 4 subunit isoform 1	229					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity				0						CAGAGTTCTCAAACAAAAAGA	0.358													G	78841185	A	G	78841185	3	3	27	1	0	0	0	0	1	0	0	0	12669	131	5	3	715	3	PSMA4	15	78841185	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3975	78841185	23690207	6511	30462											
CHRNB4	1143	broad.mit.edu	37	chr15	78922159	78922159	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagggtgcagttctgctggTcgaagggaaagtacttcacc	14	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:78922159T>C	uc002bed.1	-	5	600	c.488A>G	c.(487-489)GAC>GGC	p.D163G	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	163	Extracellular (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						GTTCTGCTGGTCGAAGGGAAA	0.552													C	78922159	T	C	78922159	3	2	27	1	0	0	0	0	1	0	0	0	3393	1667	58	3	1016	3	CHRNB4	15	78922159	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	80974	78922159	23609233	6512	30463											
RASGRF1	5923	broad.mit.edu	37	chr15	79288103	79288103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgcgtgatctcctccagCgtgatctggttgtcacctgg	11	12	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:79288103C>T	uc002beq.2	-	21	3429	c.3054G>A	c.(3052-3054)ACG>ACA	p.T1018T	RASGRF1_uc002bep.2_Silent_p.T1002T|RASGRF1_uc010blm.1_Silent_p.T927T|RASGRF1_uc002ber.3_Silent_p.T1002T|RASGRF1_uc010unh.1_Silent_p.T413T|RASGRF1_uc002beo.2_Silent_p.T234T	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	1020					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						TCTCCTCCAGCGTGATCTGGT	0.632													T	79288103	C	T	79288103	2	4	27	1	0	0	0	0	0	0	0	1	13072	755	27	1		1	RASGRF1	15	79288103	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	365944	79288103	23243289	6513	30464											
KIAA1024	23251	broad.mit.edu	37	chr15	79748674	79748674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgatcccaattttccagCcacgctattcaaagacaaga	5	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:79748674C>T	uc002bew.1	+	2	260	c.185C>T	c.(184-186)GCC>GTC	p.A62V	KIAA1024_uc010unk.1_Missense_Mutation_p.A62V	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	62						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						AATTTTCCAGCCACGCTATTC	0.458													T	79748674	C	T	79748674	3	4	27	1	0	0	0	0	1	0	0	0	8205	739	26	2	187	2	KIAA1024	15	79748674	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	460571	79748674	22782718	6514	30465											
MTHFS	10588	broad.mit.edu	37	chr15	80137564	80137564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagatttaagctgttgaCgagtcttcgtaaaggacttc	9	8	1	2	rs150067777	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:80137564C>T	uc002bex.3	-	3	640	c.600G>A	c.(598-600)TCG>TCA	p.S200S	MTHFS_uc002bey.2_RNA	NM_006441	NP_006432	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase	200					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding				0				all cancers(203;0.00467)		AAGCTGTTGACGAGTCTTCGT	0.393													T	80137564	C	T	80137564	2	4	27	1	0	0	0	0	0	0	0	1	9932	523	19	1		1	MTHFS	15	80137564	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	388890	80137564	22393828	6515	30466											
BCL2A1	597	broad.mit.edu	37	chr15	80263396	80263396	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctgatccaggttgtggtatCtgtaggacgcactgcagata	12	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:80263396C>T	uc002bfc.3	-	1	248	c.66G>A	c.(64-66)CAG>CAA	p.Q22Q	BCL2A1_uc002bfd.3_Silent_p.Q22Q	NM_004049	NP_004040	Q16548	B2LA1_HUMAN	BCL2-related protein A1 isoform 1	22					anti-apoptosis|apoptosis	cytoplasm	protein binding			pancreas(1)	1						GTTGTGGTATCTGTAGGACGC	0.463													T	80263396	C	T	80263396	2	4	27	1	0	0	0	0	0	0	0	1	1366	912	32	4		4	BCL2A1	15	80263396	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	125832	80263396	22267996	6516	30467											
FAH	2184	broad.mit.edu	37	chr15	80450471	80450471	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcatcaagcacctctttActggtcctgtcctctccaaa	5	15	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:80450471A>G	uc002bfj.2	+	3	233	c.151A>G	c.(151-153)ACT>GCT	p.T51A	FAH_uc002bfk.1_Missense_Mutation_p.T51A|FAH_uc002bfm.1_Missense_Mutation_p.T51A|FAH_uc002bfn.1_5'UTR|FAH_uc010unl.1_Missense_Mutation_p.T51A|FAH_uc002bfl.1_Missense_Mutation_p.T51A	NM_000137	NP_000128	P16930	FAAA_HUMAN	fumarylacetoacetase	51					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding				0						GCACCTCTTTACTGGTCCTGT	0.532									Tyrosinemia_type_1				G	80450471	A	G	80450471	3	3	27	1	0	0	0	0	1	0	0	0	5371	391	14	3	157	3	FAH	15	80450471	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	187075	80450471	22080921	6517	30468											
KIAA1199	57214	broad.mit.edu	37	chr15	81241186	81241186	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcttccggcccatctgggTgacactggacactgaggatc	12	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:81241186T>C	uc002bfw.1	+	29	4267	c.4007T>C	c.(4006-4008)GTG>GCG	p.V1336A	KIAA1199_uc010unn.1_Missense_Mutation_p.V1336A|MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	1336										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						CCCATCTGGGTGACACTGGAC	0.532													C	81241186	T	C	81241186	3	2	27	1	0	0	0	0	1	0	0	0	8213	1696	59	3	4117	3	KIAA1199	15	81241186	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	790715	81241186	21290206	6518	30469											
MESDC2	23184	broad.mit.edu	37	chr15	81274436	81274436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattttcaatatgctttcagGcttgcttgggtctatctttg	8	8	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:81274436G>A	uc002bfy.1	-	2	374	c.301C>T	c.(301-303)CCT>TCT	p.P101S	MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_Intron	NM_015154	NP_055969	Q14696	MESD_HUMAN	mesoderm development candidate 2	101	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum					0						ATGCTTTCAGGCTTGCTTGGG	0.428													A	81274436	G	A	81274436	3	1	27	1	0	0	0	0	1	0	0	0	9481	1203	42	2	411	2	MESDC2	15	81274436	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	33250	81274436	21256956	6519	30470											
IL16	3603	broad.mit.edu	37	chr15	81598350	81598350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtctctcaaggggaccacGcaccatgatgccttggccat	10	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:81598350G>A	uc002bgh.3	+	17	3898	c.3522G>A	c.(3520-3522)ACG>ACA	p.T1174T	IL16_uc010blq.1_Silent_p.T1128T|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.T1216T|IL16_uc002bgg.2_Silent_p.T1174T|IL16_uc002bgi.1_Silent_p.T564T|IL16_uc002bgj.2_Silent_p.T668T|IL16_uc002bgk.2_Silent_p.T473T|IL16_uc002bgl.1_Silent_p.T473T|IL16_uc010unq.1_Silent_p.T473T	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	1174	PDZ 3.|Interaction with PPP1R12A, PPP1R12B and PPP1R12C.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						AGGGGACCACGCACCATGATG	0.557													A	81598350	G	A	81598350	2	1	27	1	0	0	0	0	0	0	0	1	7633	1074	38	1		1	IL16	15	81598350	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	323914	81598350	20933042	6520	30471											
TMC3	342125	broad.mit.edu	37	chr15	81650613	81650613	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtaatatccgtagaagaggAcagagtactggaggtagccc	13	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:81650613A>G	uc002bgo.1	-	7	620	c.620T>C	c.(619-621)GTC>GCC	p.V207A	TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.V207A	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	207	Helical; (Potential).					integral to membrane				ovary(1)|liver(1)	2						GTAGAAGAGGACAGAGTACTG	0.542													G	81650613	A	G	81650613	3	3	27	1	0	0	0	0	1	0	0	0	15983	275	10	3	2746	3	TMC3	15	81650613	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	52263	81650613	20880779	6521	30472											
MEX3B	84206	broad.mit.edu	37	chr15	82336468	82336468	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgatgcagatcgaagcccAcatcggtgccgttggcgtgg	14	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:82336468A>G	uc002bgq.1	-	2	1058	c.743T>C	c.(742-744)GTG>GCG	p.V248A		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	248					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						ATCGAAGCCCACATCGGTGCC	0.652													G	82336468	A	G	82336468	3	3	27	1	0	0	0	0	1	0	0	0	9510	159	6	3	970	3	MEX3B	15	82336468	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	685855	82336468	20194924	6522	30473											
EFTUD1	79631	broad.mit.edu	37	chr15	82422800	82422800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccttccgctttcgtactgCgttcatgtacttccgggctt	8	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:82422800C>T	uc002bgt.1	-	20	3446	c.3277G>A	c.(3277-3279)GCA>ACA	p.A1093T	EFTUD1_uc002bgs.1_Missense_Mutation_p.A464T|EFTUD1_uc002bgu.1_Missense_Mutation_p.A1042T	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	1093					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			ovary(1)	1						TTTCGTACTGCGTTCATGTAC	0.493													T	82422800	C	T	82422800	3	4	27	1	0	0	0	0	1	0	0	0	4960	768	27	1	89	1	EFTUD1	15	82422800	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	86332	82422800	20108592	6523	30474											
FAM154B	283726	broad.mit.edu	37	chr15	82575356	82575356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgacaatacaaattcccaaGgtcataaattcttccgcaag	5	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:82575356G>A	uc002bgv.2	+	3	1219	c.1150G>A	c.(1150-1152)GGT>AGT	p.G384S	FAM154B_uc010unr.1_Missense_Mutation_p.G369S|FAM154B_uc010uns.1_RNA	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	hypothetical protein LOC283726	384										skin(2)	2						AAATTCCCAAGGTCATAAATT	0.403													A	82575356	G	A	82575356	3	1	27	1	0	0	0	0	1	0	0	0	5464	1000	35	4	1160	4	FAM154B	15	82575356	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	152556	82575356	19956036	6524	30475											
CPEB1	64506	broad.mit.edu	37	chr15	83240228	83240228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacgggaagattcttgcGcagaggttgggaaaagcatc	15	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:83240228G>A	uc002bit.2	-	3	562	c.425C>T	c.(424-426)GCG>GTG	p.A142V	CPEB1_uc002biq.2_Missense_Mutation_p.A7V|CPEB1_uc002bir.2_Missense_Mutation_p.A7V|CPEB1_uc002bis.2_Missense_Mutation_p.A7V|CPEB1_uc010uod.1_5'UTR|CPEB1_uc010uoe.1_Missense_Mutation_p.A85V|CPEB1_uc002biu.2_Missense_Mutation_p.A109V|CPEB1_uc010uof.1_Missense_Mutation_p.A7V|CPEB1_uc002biv.2_Missense_Mutation_p.A82V	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	82					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)			AGATTCTTGCGCAGAGGTTGG	0.542													A	83240228	G	A	83240228	3	1	27	1	0	0	0	0	1	0	0	0	3800	1087	38	1	1495	1	CPEB1	15	83240228	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	664872	83240228	19291164	6525	30476											
FSD2	123722	broad.mit.edu	37	chr15	83438639	83438640	+	Splice_Site	INS	-	-	G													gacagtcactgtaaactctgINSgggaaaaaaaaagataagaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:83438638_83438639T>TG	uc002bjd.2	-	8	1435	c.1268_splice	c.e8-1	p.E423_splice	FSD2_uc010uol.1_Intron|FSD2_uc010uom.1_Intron	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	423	Fibronectin type-III 1.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CTGTAAACTCTGGGGAAAAAAA	0.411													G	83438640	-	G	83438639	8	5	27	1	0	1	1	0	0	0	1	0	6071	1363	47	0		0	FSD2	15	83438639	Splice_Site	INS	-	TCGA-BR-6452-01A-12D-1800-08	198411	83438639	19092753	6526	30477											
FSD2	123722	broad.mit.edu	37	chr15	83455681	83455682	+	Frame_Shift_Del	DEL	GT	GT	-													tactcctcgctggcacggccGtgtgtgtacctataggcttc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:83455680_83455681CGT>C	uc002bjd.2	-	1	629_630	c.462_463ACG>G	c.(460-465)cacggcfs	p.H154fs	FSD2_uc010uol.1_Frame_Shift_Del_p.H154fs|FSD2_uc010uom.1_Frame_Shift_Del_p.H154fs	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	154										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CTGGCACGGCCGTGTGTGTACC	0.569													-	83455682	GT	-	83455681	7	5	27	1	0	1	0	1	0	0	0	0	6071	1136	40	0	1835	0	FSD2	15	83455681	Frame_Shift_Del	DEL	GT	TCGA-BR-6452-01A-12D-1800-08	17042	83455681	19075711	6527	30478											
WHAMM	123720	broad.mit.edu	37	chr15	83481966	83481966	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcaaccatgttcttccagTacttattgcagccatttagg	8	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:83481966T>C	uc002bje.2	+	2	1227	c.721T>C	c.(721-723)TAC>CAC	p.Y241H		NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi	241						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding				0						GTTCTTCCAGTACTTATTGCA	0.368													C	83481966	T	C	83481966	3	2	27	1	0	0	0	0	1	0	0	0	17358	1638	57	3	727	3	WHAMM	15	83481966	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	26285	83481966	19049426	6528	30479											
C15orf40	123207	broad.mit.edu	37	chr15	83677350	83677350	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttctaggaccttggaaagatAccgacagagctcagcattag	10	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:83677350A>T	uc010uoo.1	-	3	350	c.316T>A	c.(316-318)TAT>AAT	p.Y106N	C15orf40_uc010uon.1_Missense_Mutation_p.Y106N|C15orf40_uc002bjm.2_Missense_Mutation_p.Y106N|C15orf40_uc010uop.1_Missense_Mutation_p.Y106N|C15orf40_uc010uoq.1_RNA|C15orf40_uc010uor.1_Missense_Mutation_p.Y106N	NM_001160115	NP_001153587	Q8WUR7	CO040_HUMAN	hypothetical protein LOC123207 isoform d	79										skin(1)	1						TTGGAAAGATACCGACAGAGC	0.388													T	83677350	A	T	83677350	3	4	27	1	0	0	0	0	1	0	0	0	1794	391	14	5	625	5	C15orf40	15	83677350	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	195384	83677350	18854042	6529	30480											
TM6SF1	53346	broad.mit.edu	37	chr15	83805252	83805252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcagttttctcacattgGtgcatctcttcatgctagaa	8	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:83805252G>A	uc002bjp.2	+	10	1050	c.941G>A	c.(940-942)GGT>GAT	p.G314D	TM6SF1_uc010bmq.2_Missense_Mutation_p.G283D|TM6SF1_uc002bjq.2_3'UTR|TM6SF1_uc010bmr.2_RNA|TM6SF1_uc002bjr.2_Missense_Mutation_p.G166D	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1 isoform 1	314						integral to membrane				ovary(1)	1						TCTCACATTGGTGCATCTCTT	0.368													A	83805252	G	A	83805252	3	1	27	1	0	0	0	0	1	0	0	0	15969	1261	44	4	979	4	TM6SF1	15	83805252	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	127902	83805252	18726140	6530	30481											
BNC1	646	broad.mit.edu	37	chr15	83931934	83931934	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacaaggaaaagccattcccCtgttggacaaagcactgaag	10	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:83931934C>A	uc002bjt.1	-	4	2157	c.2069G>T	c.(2068-2070)AGG>ATG	p.R690M	BNC1_uc010uos.1_Missense_Mutation_p.R678M	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	690					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						AGCCATTCCCCTGTTGGACAA	0.498													A	83931934	C	A	83931934	3	1	27	1	0	0	0	0	1	0	0	0	1474	681	24	5	923	5	BNC1	15	83931934	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	126682	83931934	18599458	6531	30482											
BNC1	646	broad.mit.edu	37	chr15	83932495	83932495	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagggagtatcccaggcgtgTttgctacctcggcaggcgtg	15	10	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:83932495T>G	uc002bjt.1	-	4	1596	c.1508A>C	c.(1507-1509)AAC>ACC	p.N503T	BNC1_uc010uos.1_Missense_Mutation_p.N491T	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	503					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CCCAGGCGTGTTTGCTACCTC	0.512													G	83932495	T	G	83932495	3	3	27	1	0	0	0	0	1	0	0	0	1474	1725	60	5	1484	5	BNC1	15	83932495	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	561	83932495	18598897	6532	30483											
ZSCAN2	54993	broad.mit.edu	37	chr15	85164124	85164124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgggaagaccttcagccGgaaatcccacctcatcacac	9	14	3	1	rs147069559		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:85164124G>A	uc002bkr.2	+	3	924	c.698G>A	c.(697-699)CGG>CAG	p.R233Q	ZSCAN2_uc010bmz.1_Missense_Mutation_p.R231Q|ZSCAN2_uc010bna.2_Missense_Mutation_p.R83Q|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	233	C2H2-type 1.				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		ACCTTCAGCCGGAAATCCCAC	0.498													A	85164124	G	A	85164124	3	1	27	1	0	0	0	0	1	0	0	0	18228	1116	39	1	794	1	ZSCAN2	15	85164124	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1231629	85164124	17367268	6533	30484											
ZNF592	9640	broad.mit.edu	37	chr15	85327807	85327807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaagtgcagcctgctccGgcacgcccgtgaccacaaga	10	16	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:85327807G>A	uc002bld.2	+	4	2237	c.1901G>A	c.(1900-1902)CGG>CAG	p.R634Q	ZNF592_uc010upb.1_RNA	NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	634	C2H2-type 2; atypical.				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(2)	6			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCCTGCTCCGGCACGCCCGT	0.602													A	85327807	G	A	85327807	3	1	27	1	0	0	0	0	1	0	0	0	18019	1116	39	1	1903	1	ZNF592	15	85327807	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	163683	85327807	17203585	6534	30485											
ALPK3	57538	broad.mit.edu	37	chr15	85383526	85383526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaaggcagcccaaagccGccgttcttcagaaaactgca	10	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:85383526G>A	uc002ble.2	+	5	1789	c.1622G>A	c.(1621-1623)CGC>CAC	p.R541H		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	541					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCCAAAGCCGCCGTTCTTCA	0.587													A	85383526	G	A	85383526	3	1	27	1	0	0	0	0	1	0	0	0	546	1087	38	1	1640	1	ALPK3	15	85383526	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	55719	85383526	17147866	6535	30486											
ALPK3	57538	broad.mit.edu	37	chr15	85383680	85383680	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatagtaccaggaagccagcCtctgctgtgggcactccaga	12	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:85383680C>A	uc002ble.2	+	5	1943	c.1776C>A	c.(1774-1776)GCC>GCA	p.A592A		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	592					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAAGCCAGCCTCTGCTGTGG	0.647													A	85383680	C	A	85383680	2	1	27	1	0	0	0	0	0	0	0	1	546	668	24	5		5	ALPK3	15	85383680	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	154	85383680	17147712	6536	30487											
ALPK3	57538	broad.mit.edu	37	chr15	85399886	85399886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacgtgcagataggaagacGcaggtggatgctgggacaca	15	8	0	2	rs141003674		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:85399886G>A	uc002ble.2	+	6	2690	c.2523G>A	c.(2521-2523)ACG>ACA	p.T841T		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	841					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATAGGAAGACGCAGGTGGATG	0.537													A	85399886	G	A	85399886	2	1	27	1	0	0	0	0	0	0	0	1	546	1074	38	1		1	ALPK3	15	85399886	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	16206	85399886	17131506	6537	30488											
PDE8A	5151	broad.mit.edu	37	chr15	85659309	85659309	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggaaaatgaggaatactgGgactttgatatttttgaact	10	3	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:85659309G>A	uc002blh.2	+	16	1683	c.1494G>A	c.(1492-1494)TGG>TGA	p.W498*	PDE8A_uc002bli.2_Nonsense_Mutation_p.W452*|PDE8A_uc010bnc.2_Nonsense_Mutation_p.W251*|PDE8A_uc010bnd.2_Nonsense_Mutation_p.W251*|PDE8A_uc002blj.2_Nonsense_Mutation_p.W118*|PDE8A_uc002blk.2_Nonsense_Mutation_p.W118*	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	498					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			AGGAATACTGGGACTTTGATA	0.488													A	85659309	G	A	85659309	4	1	27	1	0	0	0	0	0	1	0	0	11653	1241	43	4	1556	4	PDE8A	15	85659309	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	259423	85659309	16872083	6538	30489											
AKAP13	11214	broad.mit.edu	37	chr15	86122596	86122596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaaaatcttctggaatgCccacagaccaggagtccctg	9	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:86122596C>T	uc002blv.1	+	7	1467	c.1297C>T	c.(1297-1299)CCC>TCC	p.P433S	AKAP13_uc002blt.1_Missense_Mutation_p.P433S|AKAP13_uc002blu.1_Missense_Mutation_p.P433S	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	433					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						TTCTGGAATGCCCACAGACCA	0.527													T	86122596	C	T	86122596	3	4	27	1	0	0	0	0	1	0	0	0	449	739	26	2	1319	2	AKAP13	15	86122596	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	463287	86122596	16408796	6539	30490											
AGBL1	123624	broad.mit.edu	37	chr15	86697774	86697774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccactgtctctgggctctgCgtgtgtttgcctccagtggt	12	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:86697774C>T	uc002blz.1	+	3	318	c.238C>T	c.(238-240)CGT>TGT	p.R80C		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	80					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						CTGGGCTCTGCGTGTGTTTGC	0.537													T	86697774	C	T	86697774	3	4	27	1	0	0	0	0	1	0	0	0	375	768	27	1	244	1	AGBL1	15	86697774	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	575178	86697774	15833618	6540	30491											
AGBL1	123624	broad.mit.edu	37	chr15	86807811	86807811	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagcagatgcctgggacgTagatgcaattttctgcccaa	11	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:86807811T>C	uc002blz.1	+	10	1351	c.1271T>C	c.(1270-1272)GTA>GCA	p.V424A	AGBL1_uc002bma.1_Missense_Mutation_p.V155A|AGBL1_uc002bmb.1_Missense_Mutation_p.V118A	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	424					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						GCCTGGGACGTAGATGCAATT	0.438													C	86807811	T	C	86807811	3	2	27	1	0	0	0	0	1	0	0	0	375	1638	57	3	1305	3	AGBL1	15	86807811	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	110037	86807811	15723581	6541	30492											
NTRK3	4916	broad.mit.edu	37	chr15	88678533	88678533	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctgcccattgtgcagccAgtgcagcgttggtggggggt	18	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:88678533A>G	uc002bme.1	-	9	1165	c.1003T>C	c.(1003-1005)TGG>CGG	p.W335R	NTRK3_uc002bmh.2_Missense_Mutation_p.W335R|NTRK3_uc002bmf.1_Missense_Mutation_p.W335R|NTRK3_uc010upl.1_Missense_Mutation_p.W237R|NTRK3_uc010bnh.1_Missense_Mutation_p.W335R|NTRK3_uc002bmg.2_Missense_Mutation_p.W335R	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	335	Ig-like C2-type 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGTGCAGCCAGTGCAGCGTT	0.602			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			G	88678533	A	G	88678533	3	3	27	1	0	0	0	0	1	0	0	0	10708	188	7	3	1822	3	NTRK3	15	88678533	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1870722	88678533	13852859	6542	30493											
NTRK3	4916	broad.mit.edu	37	chr15	88726694	88726694	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caaaggctctgggctgaatgCtccgaagtcctgagttcttg	12	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:88726694C>G	uc002bme.1	-	4	512	c.350G>C	c.(349-351)AGC>ACC	p.S117T	NTRK3_uc002bmh.2_Missense_Mutation_p.S117T|NTRK3_uc002bmf.1_Missense_Mutation_p.S117T|NTRK3_uc010upl.1_Missense_Mutation_p.S19T|NTRK3_uc010bnh.1_Missense_Mutation_p.S117T|NTRK3_uc002bmg.2_Missense_Mutation_p.S117T	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	117	LRR 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGCTGAATGCTCCGAAGTCC	0.527			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			G	88726694	C	G	88726694	3	3	27	1	0	0	0	0	1	0	0	0	10708	797	28	5	2495	5	NTRK3	15	88726694	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	48161	88726694	13804698	6543	30494											
AEN	64782	broad.mit.edu	37	chr15	89169940	89169940	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtggcatcactcggcagcAcatgcgcaaggctgtcccct	12	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:89169940A>G	uc002bmt.2	+	2	651	c.500A>G	c.(499-501)CAC>CGC	p.H167R	AEN_uc010bnl.2_Missense_Mutation_p.H167R|AEN_uc010bnm.1_Missense_Mutation_p.H167R	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN	interferon stimulated exonuclease gene	167	Exonuclease.|Nuclear localization signal.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding				0						ACTCGGCAGCACATGCGCAAG	0.522													G	89169940	A	G	89169940	3	3	27	1	0	0	0	0	1	0	0	0	351	159	6	3	502	3	AEN	15	89169940	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	443246	89169940	13361452	6544	30495											
FANCI	55215	broad.mit.edu	37	chr15	89811723	89811723	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgccatcaaattggactaTgaactaggcagagaactcgt	9	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:89811723T>C	uc010bnp.1	+	10	939	c.849T>C	c.(847-849)TAT>TAC	p.Y283Y	FANCI_uc002bnm.1_Silent_p.Y283Y|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Silent_p.Y104Y	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	283					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					AATTGGACTATGAACTAGGCA	0.408								Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				C	89811723	T	C	89811723	2	2	27	1	0	0	0	0	0	0	0	1	5669	1471	51	3		3	FANCI	15	89811723	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	641783	89811723	12719669	6545	30496											
FANCI	55215	broad.mit.edu	37	chr15	89844640	89844640	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagtcacggttcttaccagTttgtccaagttactggagcc	9	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:89844640T>C	uc010bnp.1	+	27	3063	c.2973T>C	c.(2971-2973)AGT>AGC	p.S991S	FANCI_uc002bnm.1_Silent_p.S931S|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Silent_p.S752S|FANCI_uc002bnq.1_Silent_p.S404S	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	991					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTCTTACCAGTTTGTCCAAGT	0.433								Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				C	89844640	T	C	89844640	2	2	27	1	0	0	0	0	0	0	0	1	5669	1722	60	3		3	FANCI	15	89844640	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	32917	89844640	12686752	6546	30497											
POLG	5428	broad.mit.edu	37	chr15	89864450	89864450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagggtgtagccaggtggGgcctgcaccatggctttcaa	14	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:89864450G>A	uc002bns.3	-	17	2922	c.2640C>T	c.(2638-2640)GCC>GCT	p.A880A	POLG_uc002bnr.3_Silent_p.A880A	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	880					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			AGCCAGGTGGGGCCTGCACCA	0.577								DNA_polymerases_(catalytic_subunits)					A	89864450	G	A	89864450	2	1	27	1	0	0	0	0	0	0	0	1	12200	1219	43	4		4	POLG	15	89864450	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	19810	89864450	12666942	6547	30498											
POLG	5428	broad.mit.edu	37	chr15	89871936	89871936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggaagttctcacgaatgtCcttcatggtgcccttcacaa	8	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:89871936C>T	uc002bns.3	-	5	1432	c.1150G>A	c.(1150-1152)GAC>AAC	p.D384N	POLG_uc002bnr.3_Missense_Mutation_p.D384N	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	384					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TCACGAATGTCCTTCATGGTG	0.582								DNA_polymerases_(catalytic_subunits)					T	89871936	C	T	89871936	3	4	27	1	0	0	0	0	1	0	0	0	12200	855	30	4	2645	4	POLG	15	89871936	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	7486	89871936	12659456	6548	30499											
WDR93	56964	broad.mit.edu	37	chr15	90274739	90274739	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctcagctgctcctcctccTacctggtgctggcctgcgag	11	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:90274739T>C	uc002boj.2	+	12	1377	c.1276T>C	c.(1276-1278)TAC>CAC	p.Y426H	WDR93_uc010bnr.2_Missense_Mutation_p.Y426H|WDR93_uc010upz.1_Missense_Mutation_p.Y143H	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	426	WD.				electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			ovary(2)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CTCCTCCTCCTACCTGGTGCT	0.622													C	90274739	T	C	90274739	3	2	27	1	0	0	0	0	1	0	0	0	17337	1522	53	3	1318	3	WDR93	15	90274739	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	402803	90274739	12256653	6549	30500											
WDR93	56964	broad.mit.edu	37	chr15	90276280	90276280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctcagggatgtttctgCcaaagcattcacttcctaaa	6	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:90276280C>T	uc002boj.2	+	13	1475	c.1374C>T	c.(1372-1374)TGC>TGT	p.C458C	WDR93_uc010bnr.2_Intron|WDR93_uc010upz.1_Silent_p.C175C	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	458					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			ovary(2)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GATGTTTCTGCCAAAGCATTC	0.478													T	90276280	C	T	90276280	2	4	27	1	0	0	0	0	0	0	0	1	17337	747	26	2		2	WDR93	15	90276280	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1541	90276280	12255112	6550	30501											
ANPEP	290	broad.mit.edu	37	chr15	90344794	90344794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtccagcggttcatgatGtcccgcacggtggtggggag	18	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:90344794G>A	uc002bop.3	-	11	1906	c.1614C>T	c.(1612-1614)GAC>GAT	p.D538D		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	538	Extracellular.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)|skin(1)	4	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GGTTCATGATGTCCCGCACGG	0.632													A	90344794	G	A	90344794	2	1	27	1	0	0	0	0	0	0	0	1	710	1368	48	4		4	ANPEP	15	90344794	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	68514	90344794	12186598	6551	30502											
ANPEP	290	broad.mit.edu	37	chr15	90349552	90349552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgaggtacggtctcagcGtcacccggtaggaatcgggt	17	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:90349552G>A	uc002bop.3	-	2	555	c.263C>T	c.(262-264)ACG>ATG	p.T88M		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	88	Extracellular.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)|skin(1)	4	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CGGTCTCAGCGTCACCCGGTA	0.597													A	90349552	G	A	90349552	3	1	27	1	0	0	0	0	1	0	0	0	710	1145	40	1	2720	1	ANPEP	15	90349552	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4758	90349552	12181840	6552	30503											
TTLL13	440307	broad.mit.edu	37	chr15	90802126	90802126	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgagtcaaggaacggcTtttccagtgctaccgacagc	13	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:90802126T>C	uc002bpd.1	+	10	1607	c.1319T>C	c.(1318-1320)CTT>CCT	p.L440P	TTLL13_uc002bpe.1_RNA	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	440					protein modification process		ATP binding|tubulin-tyrosine ligase activity				0	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			AAGGAACGGCTTTTCCAGTGC	0.488													C	90802126	T	C	90802126	3	2	27	1	0	0	0	0	1	0	0	0	16723	1609	56	3	1353	3	TTLL13	15	90802126	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	452574	90802126	11729266	6553	30504											
ZNF774	342132	broad.mit.edu	37	chr15	90902116	90902116	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtaatctcccagccggaGcagaaagaagagccatgggt	13	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:90902116G>A	uc002bpk.3	+	3	324	c.138G>A	c.(136-138)GAG>GAA	p.E46E		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	zinc finger protein 774	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CCCAGCCGGAGCAGAAAGAAG	0.507													A	90902116	G	A	90902116	2	1	27	1	0	0	0	0	0	0	0	1	18144	962	34	2		2	ZNF774	15	90902116	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	99990	90902116	11629276	6554	30505											
BLM	641	broad.mit.edu	37	chr15	91292795	91292795	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccagcaggacaggaaacAcagagaggtggatcaaaatc	12	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:91292795A>G	uc002bpr.2	+	3	394	c.297A>G	c.(295-297)ACA>ACG	p.T99T	BLM_uc010uqh.1_Silent_p.T99T|BLM_uc010uqi.1_5'UTR|BLM_uc010bnx.2_Silent_p.T99T	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	99					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GACAGGAAACACAGAGAGGTG	0.438			Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				G	91292795	A	G	91292795	2	3	27	1	0	0	0	0	0	0	0	1	1445	146	6	3		3	BLM	15	91292795	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	390679	91292795	11238597	6555	30506											
BLM	641	broad.mit.edu	37	chr15	91293254	91293254	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatataaatgaagatgcTcaggaaagtgactctctgaa	10	6	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:91293254T>G	uc002bpr.2	+	3	853	c.756T>G	c.(754-756)GCT>GCG	p.A252A	BLM_uc010uqh.1_Silent_p.A252A|BLM_uc010uqi.1_5'UTR|BLM_uc010bnx.2_Silent_p.A252A	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	252					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			ATGAAGATGCTCAGGAAAGTG	0.358			Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				G	91293254	T	G	91293254	2	3	27	1	0	0	0	0	0	0	0	1	1445	1538	54	5		5	BLM	15	91293254	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	459	91293254	11238138	6556	30507											
FES	2242	broad.mit.edu	37	chr15	91430451	91430451	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggctaaggacaagtatgtGcgcagcctgtggaagctctt	13	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:91430451G>A	uc002bpv.2	+	5	615	c.519G>A	c.(517-519)GTG>GTA	p.V173V	FES_uc010uqj.1_Silent_p.V115V|FES_uc010uqk.1_Silent_p.V155V|FES_uc002bpw.2_RNA|FES_uc010bny.2_Silent_p.V115V|FES_uc002bpx.2_Silent_p.V173V|FES_uc002bpy.2_Silent_p.V115V	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	173	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ACAAGTATGTGCGCAGCCTGT	0.627													A	91430451	G	A	91430451	2	1	27	1	0	0	0	0	0	0	0	1	5820	1306	46	2		2	FES	15	91430451	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	137197	91430451	11100941	6557	30508											
FES	2242	broad.mit.edu	37	chr15	91436381	91436381	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgtctcattggtgtctgCacccagaagcagcccatcta	10	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:91436381C>T	uc002bpv.2	+	15	1974	c.1878C>T	c.(1876-1878)TGC>TGT	p.C626C	FES_uc010uqj.1_Silent_p.C498C|FES_uc010uqk.1_Silent_p.C608C|FES_uc002bpw.2_RNA|FES_uc010bny.2_Intron|FES_uc002bpx.2_Silent_p.C556C|FES_uc002bpy.2_Silent_p.C568C	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	626	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TTGGTGTCTGCACCCAGAAGC	0.642													T	91436381	C	T	91436381	2	4	27	1	0	0	0	0	0	0	0	1	5820	718	25	2		2	FES	15	91436381	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5930	91436381	11095011	6558	30509											
FES	2242	broad.mit.edu	37	chr15	91436956	91436956	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtgactttgggatgtcccgAgaggaagccgatggggtcta	16	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:91436956A>T	uc002bpv.2	+	17	2214	c.2118A>T	c.(2116-2118)CGA>CGT	p.R706R	FES_uc010uqj.1_Silent_p.R578R|FES_uc010uqk.1_Silent_p.R688R|FES_uc002bpw.2_RNA|FES_uc010bny.2_Silent_p.R565R|FES_uc002bpx.2_Silent_p.R636R|FES_uc002bpy.2_Silent_p.R648R	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	706	Protein kinase.			R->Q: Negligible effect on autophosphorylation and kinase activity.	axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGATGTCCCGAGAGGAAGCCG	0.587													T	91436956	A	T	91436956	2	4	27	1	0	0	0	0	0	0	0	1	5820	291	11	5		5	FES	15	91436956	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	575	91436956	11094436	6559	30510											
MAN2A2	4122	broad.mit.edu	37	chr15	91456571	91456571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actacgtcaacaaggagctgGccctgcacatccatacagac	8	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:91456571G>A	uc010bnz.2	+	18	2768	c.2653G>A	c.(2653-2655)GCC>ACC	p.A885T	MAN2A2_uc002bqc.2_Missense_Mutation_p.A885T|MAN2A2_uc010uql.1_Missense_Mutation_p.A547T|MAN2A2_uc010uqm.1_Missense_Mutation_p.A464T|MAN2A2_uc010uqn.1_RNA	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	885					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CAAGGAGCTGGCCCTGCACAT	0.577													A	91456571	G	A	91456571	3	1	27	1	0	0	0	0	1	0	0	0	9215	1203	42	2	2719	2	MAN2A2	15	91456571	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	19615	91456571	11074821	6560	30511											
UNC45A	55898	broad.mit.edu	37	chr15	91491946	91491946	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgaactgcaccaacagctaTgactacgaggagcccgaccc	10	14	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:91491946T>A	uc002bqg.2	+	13	2140	c.1800T>A	c.(1798-1800)TAT>TAA	p.Y600*	UNC45A_uc002bqd.2_Nonsense_Mutation_p.Y585*|UNC45A_uc010uqr.1_5'UTR|UNC45A_uc002bqi.2_5'Flank	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform	600					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCAACAGCTATGACTACGAGG	0.622													A	91491946	T	A	91491946	4	1	27	1	0	0	0	0	0	1	0	0	16985	1471	51	5	1850	5	UNC45A	15	91491946	Nonsense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	35375	91491946	11039446	6561	30512											
UNC45A	55898	broad.mit.edu	37	chr15	91496278	91496278	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggccatgagcaaggaggTgagggttggtctgggtgctc	18	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:91496278T>C	uc002bqg.2	+	18	2761	c.2421_splice	c.e18+2	p.E807_splice	UNC45A_uc002bqd.2_Splice_Site_p.E792_splice|UNC45A_uc010uqr.1_Splice_Site_p.E199_splice|UNC45A_uc002bqi.2_Splice_Site_p.E85_splice|RCCD1_uc002bqj.2_5'Flank|RCCD1_uc002bqk.2_5'Flank|RCCD1_uc002bql.2_5'Flank	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform						cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AGCAAGGAGGTGAGGGTTGGT	0.572													C	91496278	T	C	91496278	5	2	27	1	0	0	0	0	0	0	1	0	16985	1710	59	3	2493	3	UNC45A	15	91496278	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4332	91496278	11035114	6562	30513											
RCCD1	91433	broad.mit.edu	37	chr15	91500920	91500920	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcctagtcatggctgaggTggccgcggggggctggcatt	20	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:91500920T>C	uc002bqj.2	+	5	924	c.644T>C	c.(643-645)GTG>GCG	p.V215A	RCCD1_uc002bqk.2_Missense_Mutation_p.V215A|RCCD1_uc002bql.2_Missense_Mutation_p.V215A|RCCD1_uc010bob.2_Missense_Mutation_p.V4A	NM_033544	NP_291022	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	215	RCC1 2.										0	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			ATGGCTGAGGTGGCCGCGGGG	0.602													C	91500920	T	C	91500920	3	2	27	1	0	0	0	0	1	0	0	0	13175	1696	59	3	654	3	RCCD1	15	91500920	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4642	91500920	11030472	6563	30514											
RCCD1	91433	broad.mit.edu	37	chr15	91504966	91504966	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgtgggccgtggaacacCtacgtgtatgctgtggagaa	14	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:91504966C>A	uc002bqj.2	+	9	1378	c.1098C>A	c.(1096-1098)ACC>ACA	p.T366T	RCCD1_uc002bqk.2_Silent_p.T366T|RCCD1_uc002bql.2_Silent_p.T364T|RCCD1_uc010bob.2_Silent_p.T155T	NM_033544	NP_291022	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	366	RCC1 4.										0	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			CGTGGAACACCTACGTGTATG	0.403													A	91504966	C	A	91504966	2	1	27	1	0	0	0	0	0	0	0	1	13175	668	24	5		5	RCCD1	15	91504966	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4046	91504966	11026426	6564	30515											
SV2B	9899	broad.mit.edu	37	chr15	91769874	91769874	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccgatggggtggaagtgttCgtggtgagttttgccctgcc	17	8	0	1	rs148654261		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:91769874C>T	uc002bqv.2	+	1	772	c.381C>T	c.(379-381)TTC>TTT	p.F127F	SV2B_uc002bqt.2_Silent_p.F127F|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	127	Helical; (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGGAAGTGTTCGTGGTGAGTT	0.512													T	91769874	C	T	91769874	2	4	27	1	0	0	0	0	0	0	0	1	15415	883	31	1		1	SV2B	15	91769874	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	264908	91769874	10761518	6565	30516											
ST8SIA2	8128	broad.mit.edu	37	chr15	92981597	92981597	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacaggaagcagattttaaAgttcttggatgctgaaaagg	11	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:92981597A>G	uc002bra.2	+	4	460	c.305A>G	c.(304-306)AAG>AGG	p.K102R	ST8SIA2_uc002brb.2_Missense_Mutation_p.K81R	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide	102	Lumenal (Potential).				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity				0	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CAGATTTTAAAGTTCTTGGAT	0.473													G	92981597	A	G	92981597	3	3	27	1	0	0	0	0	1	0	0	0	15231	72	3	3	319	3	ST8SIA2	15	92981597	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1211723	92981597	9549795	6566	30517											
C15orf32	145858	broad.mit.edu	37	chr15	93015547	93015547	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctggaccctgtgtgagAtgctttctatactagccctt	10	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:93015547A>T	uc002brc.1	+	1	641	c.169A>T	c.(169-171)ATG>TTG	p.M57L	C15orf32_uc010bod.1_RNA	NM_153040	NP_694585	Q32M92	CO032_HUMAN	hypothetical protein LOC145858	57										ovary(1)	1	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			CCTGTGTGAGATGCTTTCTAT	0.368													T	93015547	A	T	93015547	3	4	27	1	0	0	0	0	1	0	0	0	1790	333	12	5	171	5	C15orf32	15	93015547	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	33950	93015547	9515845	6567	30518											
C15orf32	145858	broad.mit.edu	37	chr15	93015736	93015736	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttaattctaccaaccttcAaccatcttgtcataaggtga	4	11	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:93015736A>G	uc002brc.1	+	1	830	c.358A>G	c.(358-360)AAC>GAC	p.N120D	C15orf32_uc010bod.1_RNA	NM_153040	NP_694585	Q32M92	CO032_HUMAN	hypothetical protein LOC145858	120										ovary(1)	1	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			ACCAACCTTCAACCATCTTGT	0.443													G	93015736	A	G	93015736	3	3	27	1	0	0	0	0	1	0	0	0	1790	130	5	3	360	3	C15orf32	15	93015736	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	189	93015736	9515656	6568	30519											
FAM174B	400451	broad.mit.edu	37	chr15	93277269	93277269	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaatcgcagccctgtgcaCggcagcagtggcacccaccc	12	17	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:93277269C>T	uc002bsl.3	-	1		c.36G>A						Q3ZCQ3	F174B_HUMAN	Homo sapiens cDNA PSEC0264 fis, clone NT2RP3002337.							integral to membrane					0						GCCCTGTGCACGGCAGCAGTG	0.587													T	93277269	C	T	93277269	1	4	27	0	1	0	0	0	0	0	0	0	5496	551	19	1		1	FAM174B	15	93277269	RNA	SNP	C	TCGA-BR-6452-01A-12D-1800-08	261533	93277269	9254123	6569	30520											
CHD2	1106	broad.mit.edu	37	chr15	93482927	93482927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccaaaaggcagactcgtcGaagagcggctaaaaacgtta	10	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:93482927G>A	uc002bsp.2	+	7	1246	c.671G>A	c.(670-672)CGA>CAA	p.R224Q	CHD2_uc002bsm.1_Missense_Mutation_p.R224Q|CHD2_uc002bsn.2_Missense_Mutation_p.R224Q|CHD2_uc002bso.1_Missense_Mutation_p.R224Q|CHD2_uc010urb.1_Missense_Mutation_p.R237Q	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	224					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CAGACTCGTCGAAGAGCGGCT	0.438													A	93482927	G	A	93482927	3	1	27	1	0	0	0	0	1	0	0	0	3325	1058	37	1	693	1	CHD2	15	93482927	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	205658	93482927	9048465	6570	30521											
CHD2	1106	broad.mit.edu	37	chr15	93489068	93489068	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagctgtgaagacaagtaaaTctacattgggtcaaacagat	9	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:93489068T>C	uc002bsp.2	+	11	1746	c.1171T>C	c.(1171-1173)TCT>CCT	p.S391P	CHD2_uc002bsn.2_Missense_Mutation_p.S391P|CHD2_uc002bso.1_Missense_Mutation_p.S391P|CHD2_uc010urb.1_Missense_Mutation_p.S404P|CHD2_uc010bof.1_Intron	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	391	Chromo 2.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GACAAGTAAATCTACATTGGG	0.264													C	93489068	T	C	93489068	3	2	27	1	0	0	0	0	1	0	0	0	3325	1435	50	3	1209	3	CHD2	15	93489068	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	6141	93489068	9042324	6571	30522											
CHD2	1106	broad.mit.edu	37	chr15	93492207	93492207	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagcagagaccacgatttgTagctttaaagaaacaacctg	9	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:93492207T>C	uc002bsp.2	+	13	1978	c.1403T>C	c.(1402-1404)GTA>GCA	p.V468A	CHD2_uc002bsn.2_Missense_Mutation_p.V468A|CHD2_uc002bso.1_Missense_Mutation_p.V468A|CHD2_uc010urb.1_Missense_Mutation_p.V481A	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	468					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCACGATTTGTAGCTTTAAAG	0.418													C	93492207	T	C	93492207	3	2	27	1	0	0	0	0	1	0	0	0	3325	1638	57	3	1449	3	CHD2	15	93492207	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3139	93492207	9039185	6572	30523											
CHD2	1106	broad.mit.edu	37	chr15	93528799	93528799	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatcctctgcttctgagagTgaaacggaagactctgatga	11	8	3	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:93528799T>C	uc002bsp.2	+	26	3884	c.3309T>C	c.(3307-3309)AGT>AGC	p.S1103S	CHD2_uc002bso.1_Silent_p.S1103S	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1103					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CTTCTGAGAGTGAAACGGAAG	0.527													C	93528799	T	C	93528799	2	2	27	1	0	0	0	0	0	0	0	1	3325	1693	59	3		3	CHD2	15	93528799	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	36592	93528799	9002593	6573	30524											
IGF1R	3480	broad.mit.edu	37	chr15	99251247	99251247	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtggggacctgtgtccagGgaccatggaggagaagccga	17	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:99251247G>T	uc002bul.2	+	2	601	c.551G>T	c.(550-552)GGG>GTG	p.G184V	IGF1R_uc010urq.1_Missense_Mutation_p.G184V|IGF1R_uc010bon.2_Missense_Mutation_p.G184V	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	184					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CTGTGTCCAGGGACCATGGAG	0.517													T	99251247	G	T	99251247	3	4	27	1	0	0	0	0	1	0	0	0	7571	1232	43	5	557	5	IGF1R	15	99251247	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5722448	99251247	3280145	6574	30525											
SYNM	23336	broad.mit.edu	37	chr15	99669820	99669820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaactcatacggaaaagccGtcagcagtcaaaccaacgtc	7	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:99669820G>A	uc002bup.2	+	6	1375	c.1255G>A	c.(1255-1257)GTC>ATC	p.V419I	SYNM_uc002buo.2_Missense_Mutation_p.V419I|SYNM_uc002buq.2_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	419	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			ovary(3)|central_nervous_system(1)	4						CGGAAAAGCCGTCAGCAGTCA	0.498													A	99669820	G	A	99669820	3	1	27	1	0	0	0	0	1	0	0	0	15452	1145	40	1	1268	1	SYNM	15	99669820	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	418573	99669820	2861572	6575	30526											
LASS3	204219	broad.mit.edu	37	chr15	101016374	101016374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtaccagtactgggatgGcagcaggggctgaggaaaag	17	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:101016374G>A	uc002bvz.2	-	9	1028	c.526C>T	c.(526-528)CCA>TCA	p.P176S	LASS3_uc002bwa.2_Missense_Mutation_p.P187S|LASS3_uc002bwb.2_Missense_Mutation_p.P176S	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	LAG1 longevity assurance homolog 3	176	Helical; (Potential).|TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			ovary(2)|pancreas(1)|skin(1)	4	Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)			TACTGGGATGGCAGCAGGGGC	0.343													A	101016374	G	A	101016374	3	1	27	1	0	0	0	0	1	0	0	0	8640	1203	42	2	645	2	LASS3	15	101016374	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1346554	101016374	1515018	6576	30527											
LINS1	55180	broad.mit.edu	37	chr15	101109963	101109963	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggagtgccgagcacacacaTctctgtgactatgaggagca	12	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:101109963T>A	uc002bwe.2	-	8	2045	c.1754A>T	c.(1753-1755)GAT>GTT	p.D585V	LINS1_uc002bwd.2_Missense_Mutation_p.D172V|LINS1_uc002bwf.2_Missense_Mutation_p.D585V|LINS1_uc002bwg.2_Missense_Mutation_p.D585V|LINS1_uc002bwh.2_Missense_Mutation_p.D585V	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	lines homolog 1	585											0	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			AGCACACACATCTCTGTGACT	0.507													A	101109963	T	A	101109963	3	1	27	1	0	0	0	0	1	0	0	0	8818	1435	50	5	523	5	LINS1	15	101109963	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	93589	101109963	1421429	6577	30528											
ALDH1A3	220	broad.mit.edu	37	chr15	101434180	101434180	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaacttccccctgctgatgCtggtgtggaagctggcaccc	13	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:101434180C>A	uc002bwn.3	+	6	663	c.559C>A	c.(559-561)CTG>ATG	p.L187M	ALDH1A3_uc010bpb.2_Intron|uc002bwo.1_RNA	NM_000693	NP_000684	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1A3	187					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			central_nervous_system(2)|lung(1)|pancreas(1)	4	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	CCTGCTGATGCTGGTGTGGAA	0.602													A	101434180	C	A	101434180	3	1	27	1	0	0	0	0	1	0	0	0	492	796	28	5	581	5	ALDH1A3	15	101434180	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	324217	101434180	1097212	6578	30529											
ALDH1A3	220	broad.mit.edu	37	chr15	101438337	101438337	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccggagcaatctgaagcgggTgacgctggagctggggggga	20	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:101438337T>A	uc002bwn.3	+	8	934	c.830T>A	c.(829-831)GTG>GAG	p.V277E	ALDH1A3_uc010bpb.2_Missense_Mutation_p.V170E|uc002bwo.1_Intron	NM_000693	NP_000684	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1A3	277					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			central_nervous_system(2)|lung(1)|pancreas(1)	4	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	CTGAAGCGGGTGACGCTGGAG	0.562													A	101438337	T	A	101438337	3	1	27	1	0	0	0	0	1	0	0	0	492	1696	59	5	860	5	ALDH1A3	15	101438337	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4157	101438337	1093055	6579	30530											
LRRK1	79705	broad.mit.edu	37	chr15	101562588	101562588	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccttaatgattttgcacagGccccaaagcaatgctgtctt	7	12	1	1	rs80186667		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:101562588G>T	uc002bwr.2	+	15	2172	c.1853G>T	c.(1852-1854)GGC>GTC	p.G618V	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	618					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTTTGCACAGGCCCCAAAGCA	0.517													T	101562588	G	T	101562588	3	4	27	1	0	0	0	0	1	0	0	0	9032	1217	42	5	1907	5	LRRK1	15	101562588	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	124251	101562588	968804	6580	30531											
CHSY1	22856	broad.mit.edu	37	chr15	101719007	101719007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatttcgcggtgcagctgtAttgtgcgatggcggagctcg	15	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:101719007A>G	uc002bwt.1	-	4	1478	c.995T>C	c.(994-996)ATA>ACA	p.I332T	CHSY1_uc010usd.1_Missense_Mutation_p.I60T	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	332	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity				0	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGCAGCTGTATTGTGCGATG	0.502													G	101719007	A	G	101719007	3	3	27	1	0	0	0	0	1	0	0	0	3412	449	16	3	1417	3	CHSY1	15	101719007	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	156419	101719007	812385	6581	30532											
TARSL2	123283	broad.mit.edu	37	chr15	102211755	102211755	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattgtagcacattgatggTatctgccaatagcatccttg	9	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:102211755T>C	uc002bxm.2	-	15	1956	c.1901A>G	c.(1900-1902)TAC>TGC	p.Y634C	TARSL2_uc002bxl.2_Missense_Mutation_p.Y179C|TARSL2_uc010usi.1_RNA	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	634					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			ovary(2)	2	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACATTGATGGTATCTGCCAAT	0.299													C	102211755	T	C	102211755	3	2	27	1	0	0	0	0	1	0	0	0	15558	1638	57	3	527	3	TARSL2	15	102211755	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	492748	102211755	319637	6582	30533											
OR4F15	390649	broad.mit.edu	37	chr15	102358739	102358739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagatggtgctgctcatagCcatggcctttgacagataca	11	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr15:102358739C>T	uc010uts.1	+	1	350	c.350C>T	c.(349-351)GCC>GTC	p.A117V		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CTGCTCATAGCCATGGCCTTT	0.458													T	102358739	C	T	102358739	3	4	27	1	0	0	0	0	1	0	0	0	11061	739	26	2	352	2	OR4F15	15	102358739	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	146984	102358739	172653	6583	30534											
NPRL3	8131	broad.mit.edu	37	chr16	142647	142647	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgacaaggagaccggcaAggagaacttggcaagaacgg	14	8	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:142647A>G	uc002cfr.2	-	11	1207	c.1108T>C	c.(1108-1110)TTG>CTG	p.L370L	NPRL3_uc010uua.1_RNA|NPRL3_uc002cfp.1_RNA|NPRL3_uc002cfq.2_Silent_p.L191L|NPRL3_uc010uub.1_Silent_p.L345L|NPRL3_uc010uuc.1_Silent_p.L292L|NPRL3_uc002cfs.1_Silent_p.L345L	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	conserved gene telomeric to alpha globin cluster	370							protein binding			ovary(1)	1						GAGACCGGCAAGGAGAACTTG	0.597													G	142647	A	G	142647	2	3	27	1	0	0	0	0	0	0	0	1	10598	69	3	3		3	NPRL3	16	142647	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08		142647	90212106	6584	30535											
PDIA2	64714	broad.mit.edu	37	chr16	334558	334558	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctacgctcaagttcttccGcaatgggaaccgcacgcacc	8	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:334558G>T	uc002cgn.1	+	7	1479	c.371G>T	c.(370-372)CGC>CTC	p.R124L	PDIA2_uc010bqt.1_5'UTR|PDIA2_uc002cgo.1_Missense_Mutation_p.R124L	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	124	Thioredoxin 1.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)|skin(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				AAGTTCTTCCGCAATGGGAAC	0.667													T	334558	G	T	334558	3	4	27	1	0	0	0	0	1	0	0	0	11668	1087	38	5	377	5	PDIA2	16	334558	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	191911	334558	90020195	6585	30536											
PDIA2	64714	broad.mit.edu	37	chr16	336467	336467	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaagaatgtgtttgtcAagttctgtgagtgttgaggg	13	4	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:336467A>G	uc002cgn.1	+	13	2342	c.1234A>G	c.(1234-1236)AAG>GAG	p.K412E	PDIA2_uc010bqt.1_Missense_Mutation_p.K257E|PDIA2_uc002cgo.1_Missense_Mutation_p.K412E	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	412	Thioredoxin 2.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)|skin(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TGTGTTTGTCAAGTTCTGTGA	0.577													G	336467	A	G	336467	3	3	27	1	0	0	0	0	1	0	0	0	11668	131	5	3	1264	3	PDIA2	16	336467	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1909	336467	90018286	6586	30537											
TMEM8A	58986	broad.mit.edu	37	chr16	425133	425133	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgccctaggtttacttacTcagcattctcagggcacatg	8	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:425133T>A	uc002cgu.3	-	8	1568	c.1439A>T	c.(1438-1440)GAG>GTG	p.E480V	TMEM8A_uc002cgv.3_Missense_Mutation_p.E287V	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	480	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						GTTTACTTACTCAGCATTCTC	0.602													A	425133	T	A	425133	3	1	27	1	0	0	0	0	1	0	0	0	16211	1565	54	5	900	5	TMEM8A	16	425133	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	88666	425133	89929620	6587	30538											
SOLH	6650	broad.mit.edu	37	chr16	597774	597774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccagccgcgtagaggcCggcagctccacctcgggcag	15	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:597774C>T	uc002chi.2	+	4	1299	c.936C>T	c.(934-936)GCC>GCT	p.A312A	SOLH_uc002chh.1_Silent_p.A312A	NM_005632	NP_005623	O75808	CAN15_HUMAN	small optic lobes	312					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(780;0.00335)				GCGTAGAGGCCGGCAGCTCCA	0.677													T	597774	C	T	597774	2	4	27	1	0	0	0	0	0	0	0	1	14925	639	23	1		1	SOLH	16	597774	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	172641	597774	89756979	6588	30539											
C16orf11	146325	broad.mit.edu	37	chr16	614329	614329	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgggaagcaggctggaGcttccgaaggcatcccccag	13	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:614329G>A	uc002chk.2	+	2	1314	c.1035G>A	c.(1033-1035)GAG>GAA	p.E345E	NHLRC4_uc002chl.2_5'Flank|PIGQ_uc010bqw.2_5'Flank	NM_145270	NP_660313	P0CG20	CP011_HUMAN	hypothetical protein LOC146325	345	Pro-rich.									central_nervous_system(1)	1						GCAGGCTGGAGCTTCCGAAGG	0.711													A	614329	G	A	614329	2	1	27	1	0	0	0	0	0	0	0	1	1810	962	34	2		2	C16orf11	16	614329	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	16555	614329	89740424	6589	30540											
RAB40C	57799	broad.mit.edu	37	chr16	675985	675985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgacggagcaggcccgcgcGtacgcagagaagaactgcat	14	13	0	2	rs149195145	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:675985G>A	uc002chr.2	+	5	545	c.429G>A	c.(427-429)GCG>GCA	p.A143A	RAB40C_uc002chq.2_Silent_p.A124A	NM_021168	NP_066991	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	143					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0		Hepatocellular(780;0.0218)				AGGCCCGCGCGTACGCAGAGA	0.617													A	675985	G	A	675985	2	1	27	1	0	0	0	0	0	0	0	1	12942	1132	40	1		1	RAB40C	16	675985	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	61656	675985	89678768	6590	30541											
WDR90	197335	broad.mit.edu	37	chr16	701681	701681	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacagcctctcccttgcccGgtggcctccagcaaacctgt	8	19	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:701681G>T	uc002cii.1	+	8	828	c.774G>T	c.(772-774)CCG>CCT	p.P258P	WDR90_uc002cig.1_Silent_p.P258P|WDR90_uc002cih.1_Silent_p.P258P|WDR90_uc002cij.1_RNA	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	258										ovary(1)	1		Hepatocellular(780;0.0218)				TCCCTTGCCCGGTGGCCTCCA	0.647													T	701681	G	T	701681	2	4	27	1	0	0	0	0	0	0	0	1	17334	1103	39	5		5	WDR90	16	701681	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	25696	701681	89653072	6591	30542											
MSLNL	401827	broad.mit.edu	37	chr16	822937	822937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggccagcagagccatgaCcgtgtcctgggaggtgatgc	17	10	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:822937C>T	uc002cjz.1	-	11	2248	c.2248G>A	c.(2248-2250)GTC>ATC	p.V750I		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	399	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4						AGAGCCATGACCGTGTCCTGG	0.682													T	822937	C	T	822937	3	4	27	1	0	0	0	0	1	0	0	0	9882	507	18	4	937	4	MSLNL	16	822937	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	121256	822937	89531816	6592	30543											
MSLNL	401827	broad.mit.edu	37	chr16	823198	823198	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcaacagggtgtccagGttggttctgaggatgcagcc	15	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:823198G>A	uc002cjz.1	-	10	2070	c.2070C>T	c.(2068-2070)AAC>AAT	p.N690N		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	339	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4						GGGTGTCCAGGTTGGTTCTGA	0.637													A	823198	G	A	823198	2	1	27	1	0	0	0	0	0	0	0	1	9882	1252	44	4		4	MSLNL	16	823198	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	261	823198	89531555	6593	30544											
SSTR5	6755	broad.mit.edu	37	chr16	1129571	1129571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagggcggcgggcgtgcgcGtgggctgcgtgcggcggcgc	24	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:1129571G>A	uc002ckq.2	+	1	791	c.703G>A	c.(703-705)GTG>ATG	p.V235M	LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	NM_001053	NP_001044	P35346	SSR5_HUMAN	somatostatin receptor 5	235	Cytoplasmic (Potential).				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			lung(1)	1		Hepatocellular(780;0.00369)			Octreotide(DB00104)	GGGCGTGCGCGTGGGCTGCGT	0.657													A	1129571	G	A	1129571	3	1	27	1	0	0	0	0	1	0	0	0	15200	1145	40	1	705	1	SSTR5	16	1129571	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	306373	1129571	89225182	6594	30545											
CACNA1H	8912	broad.mit.edu	37	chr16	1260939	1260939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctgggtgttctgcgcgtGctgcgtctgctgcggaccct	14	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:1260939G>A	uc002cks.2	+	21	4439	c.4191G>A	c.(4189-4191)GTG>GTA	p.V1397V	CACNA1H_uc002ckt.2_Silent_p.V1397V|CACNA1H_uc002cku.2_Silent_p.V103V|CACNA1H_uc010brj.2_Silent_p.V103V|CACNA1H_uc002ckv.2_Silent_p.V103V	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1397	III.|Helical; Name=S4 of repeat III; (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TTCTGCGCGTGCTGCGTCTGC	0.682													A	1260939	G	A	1260939	2	1	27	1	0	0	0	0	0	0	0	1	2545	1306	46	2		2	CACNA1H	16	1260939	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	131368	1260939	89093814	6595	30546											
TPSG1	25823	broad.mit.edu	37	chr16	1274629	1274629	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaagtcctgagggacacacCtgtgggaaagacgaagggcc	14	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:1274629C>A	uc002ckw.2	-	2	49	c.47_splice	c.e2-1	p.G16_splice		NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN	transmembrane tryptase preproprotein						proteolysis	integral to plasma membrane	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)				AGGGACACACCTGTGGGAAAG	0.687													A	1274629	C	A	1274629	5	1	27	1	0	0	0	0	0	0	1	0	16423	695	24	5	939	5	TPSG1	16	1274629	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	13690	1274629	89080124	6596	30547											
GNPTG	84572	broad.mit.edu	37	chr16	1412121	1412121	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgcctgccgttcccggagcCggcagagcaaggtggggcct	16	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:1412121C>A	uc002clm.2	+	6	435	c.400C>A	c.(400-402)CGG>AGG	p.R134R		NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphotransferase, gamma	134						extracellular region|Golgi apparatus	protein binding			central_nervous_system(1)	1		Hepatocellular(780;0.0893)				TTCCCGGAGCCGGCAGAGCAA	0.677													A	1412121	C	A	1412121	2	1	27	1	0	0	0	0	0	0	0	1	6546	643	23	5		5	GNPTG	16	1412121	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	137492	1412121	88942632	6597	30548											
IGFALS	3483	broad.mit.edu	37	chr16	1840991	1840991	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcagggggcccagggcGtccgccggcagctctgccag	17	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:1840991G>A	uc002cmy.2	-	2	1509	c.1428C>T	c.(1426-1428)GAC>GAT	p.D476D	IGFALS_uc010uvn.1_Silent_p.D514D|IGFALS_uc010uvo.1_Silent_p.D110D	NM_004970	NP_004961	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid	476	LRR 17.				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding				0						GGCCCAGGGCGTCCGCCGGCA	0.706													A	1840991	G	A	1840991	2	1	27	1	0	0	0	0	0	0	0	1	7577	1136	40	1		1	IGFALS	16	1840991	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	428870	1840991	88513762	6598	30549											
PKD1	5310	broad.mit.edu	37	chr16	2140480	2140480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccccacacacagcagggGtgacaggtgccaggactcgg	15	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:2140480G>A	uc002cos.1	-	45	12459	c.12250C>T	c.(12250-12252)CCC>TCC	p.P4084S	PKD1_uc002cot.1_Missense_Mutation_p.P4083S|MIR1225_hsa-mir-1225|MI0006311_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	4084	Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CACAGCAGGGGTGACAGGTGC	0.677													A	2140480	G	A	2140480	3	1	27	1	0	0	0	0	1	0	0	0	11963	1261	44	4	669	4	PKD1	16	2140480	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	299489	2140480	88214273	6599	30550											
PKD1	5310	broad.mit.edu	37	chr16	2160411	2160411	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagggatgggcgtgcagcggTcacagagcacccaggaatag	16	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:2160411T>A	uc002cos.1	-	15	4966	c.4757A>T	c.(4756-4758)GAC>GTC	p.D1586V	PKD1_uc002cot.1_Missense_Mutation_p.D1586V	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1586	PKD 11.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CGTGCAGCGGTCACAGAGCAC	0.622													A	2160411	T	A	2160411	3	1	27	1	0	0	0	0	1	0	0	0	11963	1667	58	5	8282	5	PKD1	16	2160411	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	19931	2160411	88194342	6600	30551											
PKD1	5310	broad.mit.edu	37	chr16	2164608	2164608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaggttgtgcctggacaCgccattgcccacctctgccc	12	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:2164608C>T	uc002cos.1	-	11	2625	c.2416G>A	c.(2416-2418)GTG>ATG	p.V806M	PKD1_uc002cot.1_Missense_Mutation_p.V806M	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	806	PKD 2.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						TGCCTGGACACGCCATTGCCC	0.682													T	2164608	C	T	2164608	3	4	27	1	0	0	0	0	1	0	0	0	11963	536	19	1	10639	1	PKD1	16	2164608	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4197	2164608	88190145	6601	30552											
ABCA3	21	broad.mit.edu	37	chr16	2333349	2333349	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggcatagaagttctcctgGtactggatgtctgtggggcg	15	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:2333349G>C	uc002cpy.1	-	26	4585	c.3873C>G	c.(3871-3873)TAC>TAG	p.Y1291*	ABCA3_uc010bsk.1_Nonsense_Mutation_p.Y1233*	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	1291					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				AGTTCTCCTGGTACTGGATGT	0.687													C	2333349	G	C	2333349	4	2	27	1	0	0	0	0	0	1	0	0	33	1256	44	5	1273	5	ABCA3	16	2333349	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	168741	2333349	88021404	6602	30553											
ABCA3	21	broad.mit.edu	37	chr16	2334324	2334324	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgacctcggaggaggtgcagTacctccgcgtctcgtagttc	13	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:2334324T>C	uc002cpy.1	-	25	4530	c.3818A>G	c.(3817-3819)TAC>TGC	p.Y1273C	ABCA3_uc010bsk.1_Missense_Mutation_p.Y1215C	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	1273					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				GGAGGTGCAGTACCTCCGCGT	0.597													C	2334324	T	C	2334324	3	2	27	1	0	0	0	0	1	0	0	0	33	1638	57	3	1332	3	ABCA3	16	2334324	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	975	2334324	88020429	6603	30554											
TBC1D24	57465	broad.mit.edu	37	chr16	2546590	2546590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcactacagcatcgaCgaggccgagtgcttcgagaa	12	12	0	1	rs149371169	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:2546590C>T	uc002cql.2	+	2	581	c.441C>T	c.(439-441)GAC>GAT	p.D147D	TBC1D24_uc002cqk.2_Silent_p.D147D|TBC1D24_uc002cqm.2_Silent_p.D147D|TBC1D24_uc010bsm.2_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	147	Rab-GAP TBC.		D -> H (in FIME; signicantly impairs the interaction with ARF6; partially induces neurite overgrowth when overexpressed in primary cortical neurons).		neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity				0						ACAGCATCGACGAGGCCGAGT	0.652													T	2546590	C	T	2546590	2	4	27	1	0	0	0	0	0	0	0	1	15611	535	19	1		1	TBC1D24	16	2546590	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	212266	2546590	87808163	6604	30555											
KCTD5	54442	broad.mit.edu	37	chr16	2752389	2752389	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcttacaactatgggaaCgaagaccaagccgagttcct	8	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:2752389C>T	uc002crd.2	+	5	640	c.585C>T	c.(583-585)AAC>AAT	p.N195N		NM_018992	NP_061865	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerisation domain	195					interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity				0						ACTATGGGAACGAAGACCAAG	0.592													T	2752389	C	T	2752389	2	4	27	1	0	0	0	0	0	0	0	1	8112	535	19	1		1	KCTD5	16	2752389	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	205799	2752389	87602364	6605	30556											
SRRM2	23524	broad.mit.edu	37	chr16	2812491	2812491	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctctagaaccccagctagAcgtggccgctcacgctccag	10	17	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:2812491A>G	uc002crk.2	+	11	2511	c.1962A>G	c.(1960-1962)AGA>AGG	p.R654R	SRRM2_uc002crj.1_Silent_p.R558R|SRRM2_uc002crl.1_Silent_p.R654R|SRRM2_uc010bsu.1_Silent_p.R558R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	654	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CCCCAGCTAGACGTGGCCGCT	0.617													G	2812491	A	G	2812491	2	3	27	1	0	0	0	0	0	0	0	1	15168	272	10	3		3	SRRM2	16	2812491	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	60102	2812491	87542262	6606	30557											
SRRM2	23524	broad.mit.edu	37	chr16	2813516	2813516	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggtctatttcaccatAccccaaagtaaaggcccaaa	6	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:2813516A>G	uc002crk.2	+	11	3536	c.2987A>G	c.(2986-2988)TAC>TGC	p.Y996C	SRRM2_uc002crj.1_Missense_Mutation_p.Y900C|SRRM2_uc002crl.1_Missense_Mutation_p.Y996C|SRRM2_uc010bsu.1_Missense_Mutation_p.Y900C	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	996	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						ATTTCACCATACCCCAAAGTA	0.473													G	2813516	A	G	2813516	3	3	27	1	0	0	0	0	1	0	0	0	15168	391	14	3	3025	3	SRRM2	16	2813516	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1025	2813516	87541237	6607	30558											
SRRM2	23524	broad.mit.edu	37	chr16	2814127	2814127	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggataggcctgagtcttcaCtggtattcaaagacacactt	9	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:2814127C>T	uc002crk.2	+	11	4147	c.3598C>T	c.(3598-3600)CTG>TTG	p.L1200L	SRRM2_uc002crj.1_Silent_p.L1104L|SRRM2_uc002crl.1_Silent_p.L1200L|SRRM2_uc010bsu.1_Silent_p.L1104L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1200	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						TGAGTCTTCACTGGTATTCAA	0.473													T	2814127	C	T	2814127	2	4	27	1	0	0	0	0	0	0	0	1	15168	564	20	4		4	SRRM2	16	2814127	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	611	2814127	87540626	6608	30559											
KREMEN2	79412	broad.mit.edu	37	chr16	3016364	3016364	+	Frame_Shift_Del	DEL	C	C	-													gctttgtggactcaggggcaCccccagccctcagcggcccc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:3016363_3016363AC>A	uc002csg.3	+	3	704	c.399_399AC>A	c.(397-399)gcafs	p.A133fs	KREMEN2_uc010bsw.2_Frame_Shift_Del_p.A133fs|KREMEN2_uc002csi.3_Frame_Shift_Del_p.A133fs|KREMEN2_uc010uwl.2_Frame_Shift_Del_p.A133fs|KREMEN2_uc002csh.3_Frame_Shift_Del_p.A133fs|KREMEN2_uc010bsx.3_Frame_Shift_Del_p.A133fs|PAQR4_uc002csj.4_5'Flank|PAQR4_uc002csk.4_5'Flank|PAQR4_uc002csl.4_5'Flank	NM_172229	NP_757384	Q8NCW0	KREM2_HUMAN	Homo sapiens kringle containing transmembrane protein 2 (KREMEN2), transcript variant 4, mRNA.	133	WSC.				Wnt receptor signaling pathway	integral to membrane				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						ACTCAGGGGCACCCCCAGCCC	0.642													-	3016364	C	-	3016364	7	5	27	1	0	1	0	1	0	0	0	0	8443	507	18	0	414	0	KREMEN2	16	3016364	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	202237	3016364	87338389	6609	30560											
ZNF205	7755	broad.mit.edu	37	chr16	3169666	3169666	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgcacacgggcgagaagccCtacgcctgcactgactgcgg	13	15	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:3169666C>A	uc002cub.2	+	7	1140	c.1005C>A	c.(1003-1005)CCC>CCA	p.P335P	ZNF205_uc002cua.2_Silent_p.P335P	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						GCGAGAAGCCCTACGCCTGCA	0.677													A	3169666	C	A	3169666	2	1	27	1	0	0	0	0	0	0	0	1	17761	668	24	5		5	ZNF205	16	3169666	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	153302	3169666	87185087	6610	30561											
ZNF205	7755	broad.mit.edu	37	chr16	3170039	3170039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcaagtgcttcagccagCgttccaacctcatcgcgcac	10	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:3170039C>T	uc002cub.2	+	7	1513	c.1378C>T	c.(1378-1380)CGT>TGT	p.R460C	ZNF205_uc002cua.2_Missense_Mutation_p.R460C	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	460	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						CTTCAGCCAGCGTTCCAACCT	0.642													T	3170039	C	T	3170039	3	4	27	1	0	0	0	0	1	0	0	0	17761	768	27	1	1400	1	ZNF205	16	3170039	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	373	3170039	87184714	6611	30562											
OR1F1	4992	broad.mit.edu	37	chr16	3254364	3254364	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcatgtacctggccactgtcCtggggaacctgctcatcatc	10	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:3254364C>A	uc010uwu.1	+	1	118	c.118C>A	c.(118-120)CTG>ATG	p.L40M		NM_012360	NP_036492	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GGCCACTGTCCTGGGGAACCT	0.557													A	3254364	C	A	3254364	3	1	27	1	0	0	0	0	1	0	0	0	10956	680	24	5	120	5	OR1F1	16	3254364	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	84325	3254364	87100389	6612	30563											
TIGD7	91151	broad.mit.edu	37	chr16	3350404	3350404	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatttggctcccgttgtccTctttctcttctcagccccta	5	15	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:3350404T>C	uc002cus.2	-	1	997	c.211A>G	c.(211-213)AGG>GGG	p.R71G	ZNF263_uc002cur.2_3'UTR|TIGD7_uc010btj.1_RNA	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	71	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						CCCGTTGTCCTCTTTCTCTTC	0.438													C	3350404	T	C	3350404	3	2	27	1	0	0	0	0	1	0	0	0	15898	1550	54	3	1442	3	TIGD7	16	3350404	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	96040	3350404	87004349	6613	30564											
BTBD12	84464	broad.mit.edu	37	chr16	3632367	3632367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgctccaccttcttcttGccccgaggctgccgcctcct	7	20	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:3632367G>A	uc002cvp.2	-	15	6108	c.5481C>T	c.(5479-5481)GGC>GGT	p.G1827G		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1827	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						CCTTCTTCTTGCCCCGAGGCT	0.667								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				A	3632367	G	A	3632367	2	1	27	1	0	0	0	0	0	0	0	1	1540	1306	46	2		2	BTBD12	16	3632367	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	281963	3632367	86722386	6614	30565											
BTBD12	84464	broad.mit.edu	37	chr16	3656564	3656564	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcttctgaagcgtgtctcAaacgctcggggtctgctctc	10	13	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:3656564A>G	uc002cvp.2	-	3	1298	c.671T>C	c.(670-672)TTG>TCG	p.L224S	BTBD12_uc002cvq.1_Missense_Mutation_p.L224S	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	224	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						AGCGTGTCTCAAACGCTCGGG	0.542								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				G	3656564	A	G	3656564	3	3	27	1	0	0	0	0	1	0	0	0	1540	131	5	3	4885	3	BTBD12	16	3656564	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	24197	3656564	86698189	6615	30566											
BTBD12	84464	broad.mit.edu	37	chr16	3658827	3658827	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttaaagtcctcatcagActcatccatcatctgaccag	4	13	6	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:3658827A>G	uc002cvp.2	-	2	766	c.139T>C	c.(139-141)TCT>CCT	p.S47P	BTBD12_uc002cvq.1_Missense_Mutation_p.S47P	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	47	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						TCCTCATCAGACTCATCCATC	0.468								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				G	3658827	A	G	3658827	3	3	27	1	0	0	0	0	1	0	0	0	1540	275	10	3	5421	3	BTBD12	16	3658827	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2263	3658827	86695926	6616	30567											
TRAP1	10131	broad.mit.edu	37	chr16	3740920	3740920	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagtcgtcctgcctgcaagCtccaggctgggtttcgcctg	12	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:3740920C>A	uc002cvt.3	-	2	244	c.155G>T	c.(154-156)AGC>ATC	p.S52I	TRAP1_uc010uxf.1_Intron	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	52					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)				TGCCTGCAAGCTCCAGGCTGG	0.552											OREG0023572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	3740920	C	A	3740920	3	1	27	1	0	0	0	0	1	0	0	0	16452	797	28	5	2027	5	TRAP1	16	3740920	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	82093	3740920	86613833	6617	30568											
CREBBP	1387	broad.mit.edu	37	chr16	3778617	3778617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcacgccagcctgcatgGcattcaggttctgcaggctg	14	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:3778617G>A	uc002cvv.2	-	31	6635	c.6431C>T	c.(6430-6432)GCC>GTC	p.A2144V	CREBBP_uc002cvw.2_Missense_Mutation_p.A2106V	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2144					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGCCTGCATGGCATTCAGGTT	0.677			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				A	3778617	G	A	3778617	3	1	27	1	0	0	0	0	1	0	0	0	3861	1203	42	2	901	2	CREBBP	16	3778617	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	37697	3778617	86576136	6618	30569											
CREBBP	1387	broad.mit.edu	37	chr16	3843433	3843433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtcatgtgattcaaaacGtttttcatggttcgacaatg	9	7	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:3843433G>A	uc002cvv.2	-	4	1374	c.1170C>T	c.(1168-1170)AAC>AAT	p.N390N	CREBBP_uc002cvw.2_Silent_p.N390N	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	390	TAZ-type 1.|Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GATTCAAAACGTTTTTCATGG	0.493			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				A	3843433	G	A	3843433	2	1	27	1	0	0	0	0	0	0	0	1	3861	1136	40	1		1	CREBBP	16	3843433	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	64816	3843433	86511320	6619	30570											
ADCY9	115	broad.mit.edu	37	chr16	4029168	4029168	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggagtagacggccagtgcGggaagcgacaccaggatggc	18	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:4029168G>A	uc002cvx.2	-	8	3167	c.2628C>T	c.(2626-2628)CCC>CCT	p.P876P		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	876	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						CGGCCAGTGCGGGAAGCGACA	0.582													A	4029168	G	A	4029168	2	1	27	1	0	0	0	0	0	0	0	1	301	1103	39	1		1	ADCY9	16	4029168	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	185735	4029168	86325585	6620	30571											
ADCY9	115	broad.mit.edu	37	chr16	4164493	4164493	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtccttcccgtgcatAatggattgccccaccttgag	9	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:4164493A>G	uc002cvx.2	-	2	1490	c.951T>C	c.(949-951)ATT>ATC	p.I317I		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	317	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						TCCCGTGCATAATGGATTGCC	0.557													G	4164493	A	G	4164493	2	3	27	1	0	0	0	0	0	0	0	1	301	358	13	3		3	ADCY9	16	4164493	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	135325	4164493	86190260	6621	30572											
ADCY9	115	broad.mit.edu	37	chr16	4164997	4164997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaccaggaggaagcacagCgcgggggcgaccatgacgat	15	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:4164997C>T	uc002cvx.2	-	2	986	c.447G>A	c.(445-447)GCG>GCA	p.A149A		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	149	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						GGAAGCACAGCGCGGGGGCGA	0.582													T	4164997	C	T	4164997	2	4	27	1	0	0	0	0	0	0	0	1	301	755	27	1		1	ADCY9	16	4164997	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	504	4164997	86189756	6622	30573											
SRL	6345	broad.mit.edu	37	chr16	4242609	4242609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgttctccagtctgttctCgatcacctgattcaggtctt	7	12	6	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:4242609C>T	uc002cvz.3	-	6	980	c.967G>A	c.(967-969)GAG>AAG	p.E323K	SRL_uc002cvy.3_RNA	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	sarcalumenin	782						sarcoplasmic reticulum lumen	GTP binding|GTPase activity			ovary(3)|skin(2)	5						AGTCTGTTCTCGATCACCTGA	0.552													T	4242609	C	T	4242609	3	4	27	1	0	0	0	0	1	0	0	0	15149	893	31	1	458	1	SRL	16	4242609	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	77612	4242609	86112144	6623	30574											
TFAP4	7023	broad.mit.edu	37	chr16	4308190	4308190	+	Missense_Mutation	SNP	C	C	A													gacaggcttcacgatgacagCtcgccgctgctcctcctcca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:4308190C>A	uc010uxg.1	-	7	1137	c.883G>T	c.(883-885)GCT>TCT	p.A295S		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	295					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						ACGATGACAGCTCGCCGCTGC	0.662													A	4308190	C	A	4308190	3	1	27	1	0	0	0	0	1	0	0	0	15789	797	28	5	137	5	TFAP4	16	4308190	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	65581	4308190	86046563	6624	30575	103	2									
TFAP4	7023	broad.mit.edu	37	chr16	4308199	4308199	+	Missense_Mutation	SNP	G	G	C													cacgatgacagctcgccgctGctcctcctccagctcctgct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:4308199G>C	uc010uxg.1	-	7	1128	c.874C>G	c.(874-876)CAG>GAG	p.Q292E		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	292					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						GCTCGCCGCTGCTCCTCCTCC	0.652													C	4308199	G	C	4308199	3	2	27	1	0	0	0	0	1	0	0	0	15789	1328	46	5	146	5	TFAP4	16	4308199	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	9	4308199	86046554	6625	30576	103	2									
CORO7	79585	broad.mit.edu	37	chr16	4409546	4409546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagggttgagggagccaCgtccaggcccaacactgcca	13	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:4409546C>T	uc002cwh.3	-	22	2305	c.2185G>A	c.(2185-2187)GTG>ATG	p.V729M	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.V729M|CORO7_uc002cwg.3_Missense_Mutation_p.V509M|CORO7_uc010uxh.1_Missense_Mutation_p.V711M|CORO7_uc010uxi.1_Missense_Mutation_p.V644M|CORO7_uc002cwi.1_Missense_Mutation_p.V509M	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	729	WD 8.					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						GAGGGAGCCACGTCCAGGCCC	0.662											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	4409546	C	T	4409546	3	4	27	1	0	0	0	0	1	0	0	0	3759	536	19	1	620	1	CORO7	16	4409546	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	101347	4409546	85945207	6626	30577											
CORO7	79585	broad.mit.edu	37	chr16	4438557	4438557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccctacctggttgaatcCagtagacacaaggtgctccc	8	15	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:4438557C>T	uc002cwh.3	-	8	811	c.691G>A	c.(691-693)GGA>AGA	p.G231R	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.G231R|CORO7_uc002cwg.3_Missense_Mutation_p.G11R|CORO7_uc010uxh.1_Missense_Mutation_p.G213R|CORO7_uc010uxi.1_Missense_Mutation_p.G146R|CORO7_uc002cwi.1_Missense_Mutation_p.G11R|CORO7_uc010uxj.1_RNA|CORO7_uc010btp.1_Missense_Mutation_p.G11R	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	231	WD 4.					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						TGGTTGAATCCAGTAGACACA	0.642													T	4438557	C	T	4438557	3	4	27	1	0	0	0	0	1	0	0	0	3759	603	21	4	2170	4	CORO7	16	4438557	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	29011	4438557	85916196	6627	30578											
ANKS3	124401	broad.mit.edu	37	chr16	4780145	4780145	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcttcatcgctgagctcGgacatcactgaggaggaagg	14	10	2	2	rs145030609	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:4780145G>A	uc002cxj.1	-	3	301	c.6C>T	c.(4-6)TCC>TCT	p.S2S	ANKS3_uc002cxi.1_5'Flank|ANKS3_uc002cxk.2_5'UTR|ANKS3_uc002cxl.2_5'UTR|ANKS3_uc010uxs.1_Intron|ANKS3_uc002cxm.2_5'UTR	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain	2											0						CGCTGAGCTCGGACATCACTG	0.607													A	4780145	G	A	4780145	2	1	27	1	0	0	0	0	0	0	0	1	690	1103	39	1		1	ANKS3	16	4780145	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	341588	4780145	85574608	6628	30579											
ROGDI	79641	broad.mit.edu	37	chr16	4851560	4851560	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcccctcagtgccggagccCggcagagtgaagcgcagaga	16	13	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:4851560C>A	uc002cxv.2	-	3	246	c.144G>T	c.(142-144)CCG>CCT	p.P48P	ROGDI_uc002cxu.2_5'UTR|ROGDI_uc010bua.2_RNA|ROGDI_uc002cxw.2_5'UTR|ROGDI_uc010bub.1_RNA	NM_024589	NP_078865	Q9GZN7	ROGDI_HUMAN	leucine zipper domain protein	48						intracellular				ovary(1)|skin(1)	2						TGCCGGAGCCCGGCAGAGTGA	0.657													A	4851560	C	A	4851560	2	1	27	1	0	0	0	0	0	0	0	1	13520	639	23	5		5	ROGDI	16	4851560	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	71415	4851560	85503193	6629	30580											
UBN1	29855	broad.mit.edu	37	chr16	4908571	4908571	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgctttcacattttagggTggaaagaaacgtagaaaaga	10	4	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:4908571T>C	uc002cyb.2	+	4	678	c.339T>C	c.(337-339)GGT>GGC	p.G113G	UBN1_uc010uxw.1_Silent_p.G113G|UBN1_uc002cyc.2_Silent_p.G113G	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	113	Sufficient for interaction with HIRA.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						CATTTTAGGGTGGAAAGAAAC	0.393													C	4908571	T	C	4908571	2	2	27	1	0	0	0	0	0	0	0	1	16889	1683	59	3		3	UBN1	16	4908571	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	57011	4908571	85446182	6630	30581											
UBN1	29855	broad.mit.edu	37	chr16	4920857	4920857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgtaggatgctggaagaGgagaaagacaaggagcagag	16	7	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:4920857G>A	uc002cyb.2	+	11	1782	c.1443G>A	c.(1441-1443)GAG>GAA	p.E481E	UBN1_uc010uxw.1_Silent_p.E481E|UBN1_uc002cyc.2_Silent_p.E481E	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	481	Potential.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						TGCTGGAAGAGGAGAAAGACA	0.537													A	4920857	G	A	4920857	2	1	27	1	0	0	0	0	0	0	0	1	16889	991	35	4		4	UBN1	16	4920857	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	12286	4920857	85433896	6631	30582											
PPL	5493	broad.mit.edu	37	chr16	4934012	4934012	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgacttggagttatggaaTtccagctccgaaagcctggc	12	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:4934012T>C	uc002cyd.1	-	22	4734	c.4644A>G	c.(4642-4644)GAA>GAG	p.E1548E		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1548	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						AGTTATGGAATTCCAGCTCCG	0.567													C	4934012	T	C	4934012	2	2	27	1	0	0	0	0	0	0	0	1	12334	1490	52	3		3	PPL	16	4934012	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	13155	4934012	85420741	6632	30583											
SEC14L5	9717	broad.mit.edu	37	chr16	5056027	5056027	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggatagagaagtgatccctgActtccttgggggagagagtg	16	6	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:5056027A>T	uc002cye.2	+	12	1595	c.1415A>T	c.(1414-1416)GAC>GTC	p.D472V		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	472	CRAL-TRIO.					integral to membrane|intracellular	transporter activity				0						GTGATCCCTGACTTCCTTGGG	0.572													T	5056027	A	T	5056027	3	4	27	1	0	0	0	0	1	0	0	0	13985	275	10	5	1457	5	SEC14L5	16	5056027	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	122015	5056027	85298726	6633	30584											
C16orf68	79091	broad.mit.edu	37	chr16	8735041	8735041	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggacgacctctgcacaGgtgtgtgtttctctcggacg	13	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:8735041G>T	uc002cyz.2	+	7	1102	c.826G>T	c.(826-828)GAT>TAT	p.D276Y	C16orf68_uc002cza.2_Missense_Mutation_p.D220Y	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	hypothetical protein LOC79091	276							methyltransferase activity				0						CCTCTGCACAGGTGTGTGTTT	0.463													T	8735041	G	T	8735041	3	4	27	1	0	0	0	0	1	0	0	0	1827	1014	35	5	848	5	C16orf68	16	8735041	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3679014	8735041	81619712	6634	30585											
PMM2	5373	broad.mit.edu	37	chr16	8900242	8900242	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtctgagctacattgcgAaaattaaactcccgaagaag	8	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:8900242A>G	uc002czf.3	+	4	395	c.325A>G	c.(325-327)AAA>GAA	p.K109E	PMM2_uc010uyf.1_RNA|PMM2_uc010uyg.1_Missense_Mutation_p.K26E|PMM2_uc010uyh.1_Intron|PMM2_uc010buj.2_RNA|PMM2_uc010uyi.1_Intron|PMM2_uc010uye.1_Missense_Mutation_p.K109E	NM_000303	NP_000294	O15305	PMM2_HUMAN	phosphomannomutase 2	109					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity			ovary(1)	1						CTACATTGCGAAAATTAAACT	0.413													G	8900242	A	G	8900242	3	3	27	1	0	0	0	0	1	0	0	0	12137	247	9	3	339	3	PMM2	16	8900242	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	165201	8900242	81454511	6635	30586											
CARHSP1	23589	broad.mit.edu	37	chr16	8952326	8952326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccctgtgaagcccgcacCgtcctgacagagagggggaa	16	12	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:8952326C>T	uc002czh.1	-	3	512	c.162G>A	c.(160-162)ACG>ACA	p.T54T	PMM2_uc002czg.1_Intron|CARHSP1_uc002czi.1_Silent_p.T54T	NM_001042476	NP_001035941	Q9Y2V2	CHSP1_HUMAN	calcium-regulated heat-stable protein 1	54					intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|P granule	DNA binding|mRNA 3'-UTR binding|phosphatase binding				0						AAGCCCGCACCGTCCTGACAG	0.622													T	8952326	C	T	8952326	2	4	27	1	0	0	0	0	0	0	0	1	2653	639	23	1		1	CARHSP1	16	8952326	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	52084	8952326	81402427	6636	30587											
USP7	7874	broad.mit.edu	37	chr16	8988948	8988948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacctctttgtggaaatgCgccactgtgacaagcatctc	9	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:8988948C>T	uc002czl.2	-	28	3178	c.2979G>A	c.(2977-2979)GCG>GCA	p.A993A	USP7_uc010uyk.1_Silent_p.A894A|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Silent_p.A894A|USP7_uc002czk.2_Silent_p.A977A	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	993					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						TGTGGAAATGCGCCACTGTGA	0.502													T	8988948	C	T	8988948	2	4	27	1	0	0	0	0	0	0	0	1	17085	755	27	1		1	USP7	16	8988948	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	36622	8988948	81365805	6637	30588											
NUBP1	4682	broad.mit.edu	37	chr16	10846529	10846529	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagataatgggattggaaggAgagcaggtaatagccggtta	15	3	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:10846529A>G	uc002daa.1	+	4	344	c.321A>G	c.(319-321)GGA>GGG	p.G107G	NUBP1_uc010bum.1_Missense_Mutation_p.R14G|NUBP1_uc002dab.1_Silent_p.G107G	NM_002484	NP_002475	P53384	NUBP1_HUMAN	nucleotide binding protein 1	107					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			ovary(1)|skin(1)	2						GATTGGAAGGAGAGCAGGTAA	0.448													G	10846529	A	G	10846529	2	3	27	1	0	0	0	0	0	0	0	1	10715	291	11	3		3	NUBP1	16	10846529	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1857581	10846529	79508224	6638	30589											
CIITA	4261	broad.mit.edu	37	chr16	11001075	11001075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccatggagcaggcccagGcatacgtgatgcgctacttt	11	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:11001075G>A	uc002dai.3	+	11	1859	c.1726G>A	c.(1726-1728)GCA>ACA	p.A576T	CIITA_uc002daj.3_Missense_Mutation_p.A577T|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.A576T|CIITA_uc002dah.2_Missense_Mutation_p.A528T|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	576	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						GCAGGCCCAGGCATACGTGAT	0.642			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								A	11001075	G	A	11001075	3	1	27	1	0	0	0	0	1	0	0	0	3428	1203	42	2	1768	2	CIITA	16	11001075	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	154546	11001075	79353678	6639	30590											
CLEC16A	23274	broad.mit.edu	37	chr16	11217761	11217761	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcagcgcctggccaaaGgccgcatccaggcaaggcgc	13	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:11217761G>T	uc002dao.2	+	21	2661	c.2431G>T	c.(2431-2433)GGC>TGC	p.G811C	CLEC16A_uc002dan.3_Missense_Mutation_p.G793C|CLEC16A_uc002dap.2_5'Flank	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	811										ovary(1)|central_nervous_system(1)	2						CCTGGCCAAAGGCCGCATCCA	0.607													T	11217761	G	T	11217761	3	4	27	1	0	0	0	0	1	0	0	0	3500	1000	35	5	2509	5	CLEC16A	16	11217761	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	216686	11217761	79136992	6640	30591											
RSL1D1	26156	broad.mit.edu	37	chr16	11941581	11941581	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttctataaaactgttctgTcttttcaggagttgaattgg	8	6	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:11941581T>C	uc002dbp.1	-	3	401	c.328A>G	c.(328-330)ACA>GCA	p.T110A	RSL1D1_uc010buv.1_Missense_Mutation_p.T110A|RSL1D1_uc010uyw.1_5'UTR|RSL1D1_uc010buw.2_RNA	NM_015659	NP_056474	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	110					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0						AACTGTTCTGTCTTTTCAGGA	0.333													C	11941581	T	C	11941581	3	2	27	1	0	0	0	0	1	0	0	0	13700	1667	58	3	1172	3	RSL1D1	16	11941581	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	723820	11941581	78413172	6641	30592											
SNX29	92017	broad.mit.edu	37	chr16	12450122	12450122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatgaggcaggagctcatcGatctccggggaccggtgagt	16	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:12450122G>A	uc002dby.3	+	9	786	c.730G>A	c.(730-732)GAT>AAT	p.D244N		NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	244					cell communication		phosphatidylinositol binding			ovary(1)	1						GGAGCTCATCGATCTCCGGGG	0.592													A	12450122	G	A	12450122	3	1	27	1	0	0	0	0	1	0	0	0	14898	1058	37	1	760	1	SNX29	16	12450122	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	508541	12450122	77904631	6642	30593											
ERCC4	2072	broad.mit.edu	37	chr16	14020418	14020418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attatgtttctccccctcagGcatcttggtgtatagagccc	8	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:14020418G>A	uc002dce.2	+	3	398	c.389G>A	c.(388-390)GGC>GAC	p.G130D	ERCC4_uc010bva.2_Missense_Mutation_p.G130D	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	130					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			lung(4)|ovary(3)|skin(2)|pancreas(1)	10						TCCCCCTCAGGCATCTTGGTG	0.303			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				A	14020418	G	A	14020418	3	1	27	1	0	0	0	0	1	0	0	0	5215	1217	42	2	399	2	ERCC4	16	14020418	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1570296	14020418	76334335	6643	30594											
ERCC4	2072	broad.mit.edu	37	chr16	14041574	14041574	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtcggggcattgacattgaAcccgtgactttagaggttgg	14	8	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:14041574A>G	uc002dce.2	+	11	2130	c.2121A>G	c.(2119-2121)GAA>GAG	p.E707E	ERCC4_uc010uyz.1_Silent_p.E257E	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	707	ERCC4.|Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			lung(4)|ovary(3)|skin(2)|pancreas(1)	10						TTGACATTGAACCCGTGACTT	0.473			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				G	14041574	A	G	14041574	2	3	27	1	0	0	0	0	0	0	0	1	5215	40	2	3		3	ERCC4	16	14041574	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	21156	14041574	76313179	6644	30595											
NOMO1	23420	broad.mit.edu	37	chr16	14951484	14951484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaattgcaccgaacacaCctcagctggctgacattatt	6	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:14951484C>T	uc002dcv.2	+	11	1258	c.1192C>T	c.(1192-1194)CCT>TCT	p.P398S		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	398	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1						ACCGAACACACCTCAGCTGGC	0.478													T	14951484	C	T	14951484	3	4	27	1	0	0	0	0	1	0	0	0	10531	507	18	4	1234	4	NOMO1	16	14951484	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	909910	14951484	75403269	6645	30596											
NTAN1	123803	broad.mit.edu	37	chr16	15131997	15131997	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggagatgggtgtttttttAaaaacatcaaggtagatcta	10	4	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:15131997A>T	uc002ddd.2	-	10	829	c.824T>A	c.(823-825)TTA>TAA	p.L275*	PDXDC1_uc002ddc.2_Intron|NTAN1_uc010uzo.1_Nonsense_Mutation_p.L170*	NM_173474	NP_775745	Q96AB6	NTAN1_HUMAN	N-terminal Asn amidase	275						cytoplasm					0						GTGTTTTTTTAAAAACATCAA	0.408													T	15131997	A	T	15131997	4	4	27	1	0	0	0	0	0	1	0	0	10695	372	13	5	112	5	NTAN1	16	15131997	Nonsense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	180513	15131997	75222756	6646	30597											
RRN3	54700	broad.mit.edu	37	chr16	15180276	15180276	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagtacatgatagaagaAcggaattctagcagccagtt	10	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:15180276A>G	uc002dde.2	-	4	356	c.288T>C	c.(286-288)CGT>CGC	p.R96R	PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_5'UTR|RRN3_uc010uzq.1_Intron|RRN3_uc002ddf.1_Silent_p.R96R	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor	96					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				ovary(1)	1						TGATAGAAGAACGGAATTCTA	0.308													G	15180276	A	G	15180276	2	3	27	1	0	0	0	0	0	0	0	1	13684	30	2	3		3	RRN3	16	15180276	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	48279	15180276	75174477	6647	30598											
KIAA0430	9665	broad.mit.edu	37	chr16	15719361	15719361	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaattttggattcttaagTtttttgggagacttcacttt	7	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:15719361T>C	uc002ddr.2	-	8	2014	c.1821A>G	c.(1819-1821)AAA>AAG	p.K607K	KIAA0430_uc002ddq.2_Intron|KIAA0430_uc010uzv.1_Silent_p.K603K|KIAA0430_uc010uzw.1_Silent_p.K605K	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	606						peroxisome	nucleotide binding|RNA binding				0						GATTCTTAAGTTTTTTGGGAG	0.388													C	15719361	T	C	15719361	2	2	27	1	0	0	0	0	0	0	0	1	8177	1722	60	3		3	KIAA0430	16	15719361	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	539085	15719361	74635392	6648	30599											
MYH11	4629	broad.mit.edu	37	chr16	15815483	15815483	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagagatgtttttctcctcGgctaacaactacaacacaag	7	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:15815483G>T	uc002ddy.2	-	32	4481	c.4374C>A	c.(4372-4374)GCC>GCA	p.A1458A	MYH11_uc002ddv.2_Silent_p.A1465A|MYH11_uc002ddw.2_Silent_p.A1458A|MYH11_uc002ddx.2_Silent_p.A1465A|MYH11_uc010bvg.2_Silent_p.A1290A|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Silent_p.A164A|NDE1_uc002ddz.1_5'Flank	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1458	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						TTTTCTCCTCGGCTAACAACT	0.552			T	CBFB	AML								T	15815483	G	T	15815483	2	4	27	1	0	0	0	0	0	0	0	1	10031	1103	39	5		5	MYH11	16	15815483	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	96122	15815483	74539270	6649	30600											
MYH11	4629	broad.mit.edu	37	chr16	15841470	15841470	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcgcctggaaggccatgaTgacatcggtgatcttcaaat	10	10	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:15841470T>C	uc002ddy.2	-	19	2475	c.2368A>G	c.(2368-2370)ATC>GTC	p.I790V	MYH11_uc002ddv.2_Missense_Mutation_p.I797V|MYH11_uc002ddw.2_Missense_Mutation_p.I790V|MYH11_uc002ddx.2_Missense_Mutation_p.I797V|MYH11_uc010bvg.2_Missense_Mutation_p.I622V	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	790	IQ.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						AAGGCCATGATGACATCGGTG	0.507			T	CBFB	AML								C	15841470	T	C	15841470	3	2	27	1	0	0	0	0	1	0	0	0	10031	1464	51	3	3677	3	MYH11	16	15841470	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	25987	15841470	74513283	6650	30601											
ABCC1	4363	broad.mit.edu	37	chr16	16139870	16139870	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggggctgtctatcggaaGgtaggggacgctgtgccatt	16	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:16139870G>A	uc010bvi.2	+	9	1393	c.1218G>A	c.(1216-1218)AAG>AAA	p.K406K	ABCC1_uc010bvj.2_Silent_p.K406K|ABCC1_uc010bvk.2_Silent_p.K406K|ABCC1_uc010bvl.2_Silent_p.K406K|ABCC1_uc010bvm.2_Silent_p.K406K|ABCC1_uc002del.3_Silent_p.K290K|ABCC1_uc010bvn.2_Silent_p.K269K	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	406	Cytoplasmic.|ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TCTATCGGAAGGTAGGGGACG	0.607											OREG0023639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	16139870	G	A	16139870	2	1	27	1	0	0	0	0	0	0	0	1	49	1014	35	4		4	ABCC1	16	16139870	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	298400	16139870	74214883	6651	30602											
ABCC1	4363	broad.mit.edu	37	chr16	16208879	16208879	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgttatcctgctggccacGcccatcgccgccatcatcat	7	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:16208879G>A	uc010bvi.2	+	23	3511	c.3336G>A	c.(3334-3336)ACG>ACA	p.T1112T	ABCC1_uc010bvj.2_Silent_p.T1053T|ABCC1_uc010bvk.2_Silent_p.T1056T|ABCC1_uc010bvl.2_Silent_p.T1112T|ABCC1_uc010bvm.2_Silent_p.T997T|ABCC1_uc002del.3_Silent_p.T1006T	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1112	Helical; Name=15.|ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGCTGGCCACGCCCATCGCCG	0.562													A	16208879	G	A	16208879	2	1	27	1	0	0	0	0	0	0	0	1	49	1074	38	1		1	ABCC1	16	16208879	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	69009	16208879	74145874	6652	30603											
ABCC6	368	broad.mit.edu	37	chr16	16257015	16257015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagctggctgactccaagCgtctcagctggcatgagcta	12	11	1	2	rs63750427		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:16257015C>T	uc002den.3	-	24	3378	c.3341G>A	c.(3340-3342)CGC>CAC	p.R1114H	ABCC6_uc010bvo.2_Intron	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	1114	ABC transmembrane type-1 2.|Cytoplasmic (By similarity).		R -> P (in PXE; autosomal recessive).		response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TGACTCCAAGCGTCTCAGCTG	0.562													T	16257015	C	T	16257015	3	4	27	1	0	0	0	0	1	0	0	0	57	768	27	1	1202	1	ABCC6	16	16257015	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	48136	16257015	74097738	6653	30604											
ABCC6	368	broad.mit.edu	37	chr16	16302603	16302603	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctccgggctgcactgcggTtcctcatccactccttttca	7	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:16302603T>C	uc002den.3	-	7	813	c.776A>G	c.(775-777)AAC>AGC	p.N259S	ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Missense_Mutation_p.N271S	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	259	Cytoplasmic (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TGCACTGCGGTTCCTCATCCA	0.448													C	16302603	T	C	16302603	3	2	27	1	0	0	0	0	1	0	0	0	57	1725	60	3	3835	3	ABCC6	16	16302603	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	45588	16302603	74052150	6654	30605											
XYLT1	64131	broad.mit.edu	37	chr16	17228514	17228514	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggtagttcccgtacaggtAatagtccagctgcccaatga	11	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:17228514A>G	uc002dfa.2	-	9	1928	c.1843T>C	c.(1843-1845)TAC>CAC	p.Y615H		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	615	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						CCGTACAGGTAATAGTCCAGC	0.552													G	17228514	A	G	17228514	3	3	27	1	0	0	0	0	1	0	0	0	17460	362	13	3	1052	3	XYLT1	16	17228514	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	925911	17228514	73126239	6655	30606											
NOMO2	283820	broad.mit.edu	37	chr16	18542829	18542829	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactgatgccaagaactgtAcaaaggccacatccatcacg	7	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:18542829A>G	uc002dfe.2	-	13	1568	c.1496T>C	c.(1495-1497)GTA>GCA	p.V499A	NOMO2_uc002dff.2_Missense_Mutation_p.V499A|NOMO2_uc010bvx.2_Missense_Mutation_p.V332A	NM_001004060	NP_001004060	Q5JPE7	NOMO2_HUMAN	nodal modulator 2 isoform 1	499	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			skin(1)	1						CAAGAACTGTACAAAGGCCAC	0.478													G	18542829	A	G	18542829	3	3	27	1	0	0	0	0	1	0	0	0	10532	391	14	3	2391	3	NOMO2	16	18542829	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1314315	18542829	71811924	6656	30607											
ARL6IP1	23204	broad.mit.edu	37	chr16	18806808	18806808	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttaggtttttcttcctttAgtgtgaagaggcgtttccac	9	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:18806808A>C	uc002dfl.1	-	4	455	c.386T>G	c.(385-387)CTA>CGA	p.L129R	ARL6IP1_uc010van.1_Missense_Mutation_p.L100R|ARL6IP1_uc010bvz.1_Intron	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting	129						integral to membrane	protein binding				0						TTCTTCCTTTAGTGTGAAGAG	0.368													C	18806808	A	C	18806808	3	2	27	1	0	0	0	0	1	0	0	0	942	420	15	5	237	5	ARL6IP1	16	18806808	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	263979	18806808	71547945	6657	30608											
SMG1	23049	broad.mit.edu	37	chr16	18847478	18847478	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcgcactggctaatcaAgtgggcctgaccagcattct	10	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:18847478A>G	uc002dfm.2	-	48	8197	c.7834T>C	c.(7834-7836)TTG>CTG	p.L2612L	SMG1_uc010bwb.2_Silent_p.L2472L|SMG1_uc010bwa.2_Silent_p.L1343L	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2612					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						TGGCTAATCAAGTGGGCCTGA	0.537													G	18847478	A	G	18847478	2	3	27	1	0	0	0	0	0	0	0	1	14795	69	3	3		3	SMG1	16	18847478	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	40670	18847478	71507275	6658	30609											
SMG1	23049	broad.mit.edu	37	chr16	18896923	18896923	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaaaagaatgcacttaacAcatttacaaagcaattctgg	5	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:18896923A>G	uc002dfm.2	-	7	1251	c.888T>C	c.(886-888)TGT>TGC	p.C296C	SMG1_uc010bwb.2_Silent_p.C156C	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	296	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						TGCACTTAACACATTTACAAA	0.388													G	18896923	A	G	18896923	2	3	27	1	0	0	0	0	0	0	0	1	14795	157	6	3		3	SMG1	16	18896923	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	49445	18896923	71457830	6659	30610											
ITPRIPL2	162073	broad.mit.edu	37	chr16	19126792	19126792	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcgcgcccctgttggagCtccctgagggcctgcgtgcg	15	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:19126792C>A	uc002dfu.3	+	1	1539	c.1009C>A	c.(1009-1011)CTC>ATC	p.L337I	ITPRIPL2_uc002dft.2_Missense_Mutation_p.L33I	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-triphosphate receptor interacting	337	Cytoplasmic (Potential).					integral to membrane				skin(2)	2						CCTGTTGGAGCTCCCTGAGGG	0.657													A	19126792	C	A	19126792	3	1	27	1	0	0	0	0	1	0	0	0	7925	797	28	5	1011	5	ITPRIPL2	16	19126792	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	229869	19126792	71227961	6660	30611											
ITPRIPL2	162073	broad.mit.edu	37	chr16	19126815	19126815	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgagggcctgcgtgcggaGgcactgtggggtgtgaacac	18	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:19126815G>T	uc002dfu.3	+	1	1562	c.1032G>T	c.(1030-1032)GAG>GAT	p.E344D	ITPRIPL2_uc002dft.2_Missense_Mutation_p.E40D	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-triphosphate receptor interacting	344	Cytoplasmic (Potential).					integral to membrane				skin(2)	2						TGCGTGCGGAGGCACTGTGGG	0.662													T	19126815	G	T	19126815	3	4	27	1	0	0	0	0	1	0	0	0	7925	991	35	5	1034	5	ITPRIPL2	16	19126815	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	23	19126815	71227938	6661	30612											
SYT17	51760	broad.mit.edu	37	chr16	19195180	19195180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctcccacgatggctcgcGccaggacatggcgcactcca	10	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:19195180G>A	uc002dfw.2	+	5	993	c.662G>A	c.(661-663)CGC>CAC	p.R221H	SYT17_uc002dfx.2_Missense_Mutation_p.R160H|SYT17_uc002dfy.2_Missense_Mutation_p.R217H|SYT17_uc002dfv.1_Missense_Mutation_p.R160H	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	B/K protein	221	C2 1.					membrane|synaptic vesicle	transporter activity			ovary(1)	1						GATGGCTCGCGCCAGGACATG	0.612													A	19195180	G	A	19195180	3	1	27	1	0	0	0	0	1	0	0	0	15470	1087	38	1	680	1	SYT17	16	19195180	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	68365	19195180	71159573	6662	30613											
CP110	9738	broad.mit.edu	37	chr16	19548587	19548587	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagccagccagtatgttagaGaaaaactgcagtttgcaaac	9	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:19548587G>A	uc002dgl.3	+	4	1843	c.1596G>A	c.(1594-1596)GAG>GAA	p.E532E	CP110_uc002dgk.3_Silent_p.E532E			O43303	CP110_HUMAN	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;	532	Interaction with CEP76.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding				0						GTATGTTAGAGAAAAACTGCA	0.423													A	19548587	G	A	19548587	2	1	27	1	0	0	0	0	0	0	0	1	3788	933	33	4		4	CP110	16	19548587	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	353407	19548587	70806166	6663	30614											
C16orf62	57020	broad.mit.edu	37	chr16	19627476	19627476	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatctcaaagaaaccctaaAtaagaacttttttgacttcc	3	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:19627476A>G	uc002dgn.1	+	13	1076	c.1064A>G	c.(1063-1065)AAT>AGT	p.N355S	C16orf62_uc002dgo.1_Intron|C16orf62_uc002dgp.1_Missense_Mutation_p.N104S|C16orf62_uc002dgm.1_Missense_Mutation_p.N355S	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	355						integral to membrane				ovary(1)	1						GAAACCCTAAATAAGAACTTT	0.358													G	19627476	A	G	19627476	3	3	27	1	0	0	0	0	1	0	0	0	1825	101	4	3	1114	3	C16orf62	16	19627476	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	78889	19627476	70727277	6664	30615											
C16orf62	57020	broad.mit.edu	37	chr16	19628112	19628112	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gactggatcttccagtgcatCtcctaccatgcccccgaggt	9	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:19628112C>A	uc002dgn.1	+	14	1218	c.1206C>A	c.(1204-1206)ATC>ATA	p.I402I	C16orf62_uc002dgo.1_Intron|C16orf62_uc002dgp.1_Silent_p.I151I|C16orf62_uc002dgm.1_Silent_p.I402I	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	402						integral to membrane				ovary(1)	1						TCCAGTGCATCTCCTACCATG	0.582													A	19628112	C	A	19628112	2	1	27	1	0	0	0	0	0	0	0	1	1825	903	32	5		5	C16orf62	16	19628112	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	636	19628112	70726641	6665	30616											
C16orf62	57020	broad.mit.edu	37	chr16	19680566	19680566	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgggaagatgcggccatcggAatcgttccttctggaattcc	12	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:19680566A>T	uc002dgn.1	+	27	2318	c.2306A>T	c.(2305-2307)GAA>GTA	p.E769V	C16orf62_uc002dgo.1_Missense_Mutation_p.E676V|C16orf62_uc002dgp.1_Missense_Mutation_p.E518V	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	769						integral to membrane				ovary(1)	1						CGGCCATCGGAATCGTTCCTT	0.428													T	19680566	A	T	19680566	3	4	27	1	0	0	0	0	1	0	0	0	1825	246	9	5	2412	5	C16orf62	16	19680566	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	52454	19680566	70674187	6666	30617											
C16orf62	57020	broad.mit.edu	37	chr16	19710844	19710844	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgaagcgccagagctcGttgggcctttccttctttaa	10	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:19710844G>A	uc002dgn.1	+	30	2679	c.2667G>A	c.(2665-2667)TCG>TCA	p.S889S	C16orf62_uc002dgo.1_Silent_p.S796S|C16orf62_uc002dgp.1_Silent_p.S638S	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	889						integral to membrane				ovary(1)	1						GCCAGAGCTCGTTGGGCCTTT	0.527													A	19710844	G	A	19710844	2	1	27	1	0	0	0	0	0	0	0	1	1825	1132	40	1		1	C16orf62	16	19710844	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	30278	19710844	70643909	6667	30618											
PDILT	204474	broad.mit.edu	37	chr16	20386160	20386160	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacctttttgaacaccaggAcgctgtcaagggtgacgtgg	12	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:20386160A>G	uc002dhc.1	-	5	888	c.665T>C	c.(664-666)GTC>GCC	p.V222A		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	222					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1						GAACACCAGGACGCTGTCAAG	0.363													G	20386160	A	G	20386160	3	3	27	1	0	0	0	0	1	0	0	0	11674	275	10	3	1121	3	PDILT	16	20386160	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	675316	20386160	69968593	6668	30619											
ERI2	112479	broad.mit.edu	37	chr16	20791987	20791987	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatttttcagtggtaacagTctgtgatgctgtgtttaaca	9	5	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:20791987T>C	uc002dhs.2	-	11	1007	c.964A>G	c.(964-966)ACT>GCT	p.T322A	ACSM3_uc002dhq.2_Intron|ACSM3_uc002dhr.2_Intron|ACSM3_uc010vba.1_Intron	NM_080663	NP_542394	A8K979	ERI2_HUMAN	exoribonuclease 2 isoform 2	Error:Variant_position_missing_in_A8K979_after_alignment						intracellular	exonuclease activity|nucleic acid binding|zinc ion binding			large_intestine(1)	1						GTGGTAACAGTCTGTGATGCT	0.423													C	20791987	T	C	20791987	3	2	27	1	0	0	0	0	1	0	0	0	5228	1667	58	3	26	3	ERI2	16	20791987	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	405827	20791987	69562766	6669	30620											
LOC81691	81691	broad.mit.edu	37	chr16	20851156	20851156	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaggccttttcacctgTcctcactgaggagatgaaca	8	10	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:20851156T>A	uc002dhv.2	+	14	1726	c.1463T>A	c.(1462-1464)GTC>GAC	p.V488D	ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.V488D|LOC81691_uc002dhw.2_Missense_Mutation_p.V231D|LOC81691_uc002dhy.3_Missense_Mutation_p.V488D	NM_030941	NP_112203	Q96IC2	REXON_HUMAN	exonuclease NEF-sp isoform 1	488						nucleolus	exonuclease activity|nucleotide binding|RNA binding			ovary(1)|kidney(1)	2						TTTTCACCTGTCCTCACTGAG	0.418													A	20851156	T	A	20851156	3	1	27	1	0	0	0	0	1	0	0	0	8890	1667	58	5	1513	5	LOC81691	16	20851156	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	59169	20851156	69503597	6670	30621											
DNAH3	55567	broad.mit.edu	37	chr16	20975196	20975196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattcagttcctcgctcttcGtgctgtgggtcaaggaatgc	12	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:20975196G>A	uc010vbe.1	-	53	10010	c.10010C>T	c.(10009-10011)ACG>ATG	p.T3337M	DNAH3_uc010vbd.1_Missense_Mutation_p.T772M	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3337					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CTCGCTCTTCGTGCTGTGGGT	0.473													A	20975196	G	A	20975196	3	1	27	1	0	0	0	0	1	0	0	0	4603	1145	40	1	2379	1	DNAH3	16	20975196	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	124040	20975196	69379557	6671	30622											
DNAH3	55567	broad.mit.edu	37	chr16	21030966	21030966	+	Frame_Shift_Del	DEL	T	T	-													ctctttctggaaagatgttgTttttggtgagtttgacgctt					rs148237228	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:21030965_21030965GT>G	uc010vbe.2	-	40	6003	c.6003_6003AC>C	c.(6001-6003)aacfs	p.N2001fs		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2001					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAAAGATGTTGTTTTTGGTGA	0.398													-	21030966	T	-	21030966	7	5	27	1	0	1	0	1	0	0	0	0	4603	1725	60	0	6435	0	DNAH3	16	21030966	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	55770	21030966	69323787	6672	30623											
DNAH3	55567	broad.mit.edu	37	chr16	21031117	21031117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagagaaacagtccttggaGccagagaaagatctgttgac	11	7	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:21031117G>A	uc010vbe.1	-	41	5851	c.5851C>T	c.(5851-5853)CTC>TTC	p.L1951F		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1951					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AGTCCTTGGAGCCAGAGAAAG	0.453													A	21031117	G	A	21031117	3	1	27	1	0	0	0	0	1	0	0	0	4603	971	34	2	6586	2	DNAH3	16	21031117	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	151	21031117	69323636	6673	30624											
DNAH3	55567	broad.mit.edu	37	chr16	21061243	21061243	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttacctgcttagccaaGgctttggccaaatctttggt	9	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:21061243G>T	uc010vbe.1	-	30	4335	c.4335C>A	c.(4333-4335)GCC>GCA	p.A1445A		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1445	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GCTTAGCCAAGGCTTTGGCCA	0.532													T	21061243	G	T	21061243	2	4	27	1	0	0	0	0	0	0	0	1	4603	987	35	5		5	DNAH3	16	21061243	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	30126	21061243	69293510	6674	30625											
DNAH3	55567	broad.mit.edu	37	chr16	21086796	21086796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatttcacgaagctgaacGtcacgttaacccaatccaac	6	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:21086796G>A	uc010vbe.1	-	21	3056	c.3056C>T	c.(3055-3057)ACG>ATG	p.T1019M		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1019	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GAAGCTGAACGTCACGTTAAC	0.448													A	21086796	G	A	21086796	3	1	27	1	0	0	0	0	1	0	0	0	4603	1145	40	1	9461	1	DNAH3	16	21086796	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	25553	21086796	69267957	6675	30626											
CRYM	1428	broad.mit.edu	37	chr16	21273385	21273385	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaggacatctccagactcCttcagggcagcctcctggga	11	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:21273385C>A	uc002dik.2	-	6	853	c.768G>T	c.(766-768)AAG>AAT	p.K256N	CRYM_uc010bwq.1_RNA|CRYM_uc002dil.2_Missense_Mutation_p.K214N|CRYM_uc002dim.2_Missense_Mutation_p.K256N	NM_001888	NP_001879	Q14894	CRYM_HUMAN	crystallin, mu isoform 1	256					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity				0				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	CTCCAGACTCCTTCAGGGCAG	0.567													A	21273385	C	A	21273385	3	1	27	1	0	0	0	0	1	0	0	0	3921	680	24	5	188	5	CRYM	16	21273385	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	186589	21273385	69081368	6676	30627											
METTL9	51108	broad.mit.edu	37	chr16	21624098	21624098	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggctatttatccaattaTatcattcttttgtgtcatct	5	8	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:21624098T>C	uc002dje.2	+	2	497	c.298T>C	c.(298-300)TAT>CAT	p.Y100H	uc002diq.3_Intron|METTL9_uc002djf.2_Missense_Mutation_p.Y100H	NM_016025	NP_057109	Q9H1A3	METL9_HUMAN	methyltransferase like 9 isoform 1	100										ovary(1)	1				GBM - Glioblastoma multiforme(48;0.0759)		TATCCAATTATATCATTCTTT	0.353													C	21624098	T	C	21624098	3	2	27	1	0	0	0	0	1	0	0	0	9508	1406	49	3	304	3	METTL9	16	21624098	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	350713	21624098	68730655	6677	30628											
POLR3E	55718	broad.mit.edu	37	chr16	22335840	22335840	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagctctgcgccgaggatgTgaaggacttcctggagcaca	13	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:22335840T>C	uc002dkk.2	+	16	1301	c.1145T>C	c.(1144-1146)GTG>GCG	p.V382A	POLR3E_uc002dkj.1_Missense_Mutation_p.V382A|POLR3E_uc002dkm.2_Missense_Mutation_p.V346A|POLR3E_uc010vbr.1_Missense_Mutation_p.V382A|POLR3E_uc002dkl.2_Missense_Mutation_p.V382A|POLR3E_uc010vbs.1_Missense_Mutation_p.V346A|POLR3E_uc010vbt.1_Missense_Mutation_p.V326A	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	RNA polymerase III polypeptide E	382					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.012)		GCCGAGGATGTGAAGGACTTC	0.612													C	22335840	T	C	22335840	3	2	27	1	0	0	0	0	1	0	0	0	12232	1696	59	3	1203	3	POLR3E	16	22335840	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	711742	22335840	68018913	6678	30629											
HS3ST2	9956	broad.mit.edu	37	chr16	22826303	22826303	+	Frame_Shift_Del	DEL	G	G	-													ctcattgtgggcgtgaagaaGgggggcacccgggccgtgct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:22826303delG	uc002dli.2	+	1	444	c.372delG	c.(370-372)AAGfs	p.K124fs	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	124	PAPS and substrate (By similarity).|Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		GCGTGAAGAAGGGGGGCACCC	0.602													-	22826303	G	-	22826303	7	5	27	1	0	1	0	1	0	0	0	0	7364	991	35	0	374	0	HS3ST2	16	22826303	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	490463	22826303	67528450	6679	30630											
HS3ST2	9956	broad.mit.edu	37	chr16	22926539	22926539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccgcatcggcatgtacGtgctgcacctggagagctgg	13	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:22926539G>A	uc002dli.2	+	2	832	c.760G>A	c.(760-762)GTG>ATG	p.V254M	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	254	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		CGGCATGTACGTGCTGCACCT	0.632													A	22926539	G	A	22926539	3	1	27	1	0	0	0	0	1	0	0	0	7364	1145	40	1	766	1	HS3ST2	16	22926539	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	100236	22926539	67428214	6680	30631											
USP31	57478	broad.mit.edu	37	chr16	23079803	23079803	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaccagacttgatgcttgtgCtgggggagcgcaggctggcc	16	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:23079803C>A	uc002dll.2	-	16	3623	c.3623G>T	c.(3622-3624)AGC>ATC	p.S1208I	USP31_uc002dlk.2_Missense_Mutation_p.S480I|USP31_uc010vca.1_Missense_Mutation_p.S511I|USP31_uc010bxm.2_Missense_Mutation_p.S496I	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1208	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		GATGCTTGTGCTGGGGGAGCG	0.627													A	23079803	C	A	23079803	3	1	27	1	0	0	0	0	1	0	0	0	17059	797	28	5	439	5	USP31	16	23079803	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	153264	23079803	67274950	6681	30632											
USP31	57478	broad.mit.edu	37	chr16	23079919	23079919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttggaggtggaggtggcGctggctctgtcagaacccaa	17	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:23079919G>A	uc002dll.2	-	16	3507	c.3507C>T	c.(3505-3507)AGC>AGT	p.S1169S	USP31_uc002dlk.2_Silent_p.S441S|USP31_uc010vca.1_Silent_p.S472S|USP31_uc010bxm.2_Silent_p.S457S	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1169	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		TGGAGGTGGCGCTGGCTCTGT	0.642													A	23079919	G	A	23079919	2	1	27	1	0	0	0	0	0	0	0	1	17059	1078	38	1		1	USP31	16	23079919	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	116	23079919	67274834	6682	30633											
USP31	57478	broad.mit.edu	37	chr16	23080308	23080308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggctggtctccccttccGcaagcttttctctggctcag	9	15	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:23080308G>A	uc002dll.2	-	16	3118	c.3118C>T	c.(3118-3120)CGG>TGG	p.R1040W	USP31_uc002dlk.2_Missense_Mutation_p.R312W|USP31_uc010vca.1_Missense_Mutation_p.R343W|USP31_uc010bxm.2_Missense_Mutation_p.R328W	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1040	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		CTCCCCTTCCGCAAGCTTTTC	0.542													A	23080308	G	A	23080308	3	1	27	1	0	0	0	0	1	0	0	0	17059	1086	38	1	944	1	USP31	16	23080308	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	389	23080308	67274445	6683	30634											
SCNN1G	6340	broad.mit.edu	37	chr16	23208672	23208672	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaggtgatcatccatcggcAggatgagtatcccttcgtcg	11	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:23208672A>G	uc002dlm.1	+	6	1140	c.1001A>G	c.(1000-1002)CAG>CGG	p.Q334R		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma	334	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ATCCATCGGCAGGATGAGTAT	0.463													G	23208672	A	G	23208672	3	3	27	1	0	0	0	0	1	0	0	0	13930	188	7	3	1019	3	SCNN1G	16	23208672	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	128364	23208672	67146081	6684	30635											
SCNN1G	6340	broad.mit.edu	37	chr16	23223385	23223385	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcatgcttccagacaaagAtggtggagaaatgtgggtgt	13	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:23223385A>G	uc002dlm.1	+	8	1346	c.1207A>G	c.(1207-1209)ATG>GTG	p.M403V		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma	403	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CCAGACAAAGATGGTGGAGAA	0.532													G	23223385	A	G	23223385	3	3	27	1	0	0	0	0	1	0	0	0	13930	333	12	3	1233	3	SCNN1G	16	23223385	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	14713	23223385	67131368	6685	30636											
SCNN1B	6338	broad.mit.edu	37	chr16	23366710	23366710	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatcctgcaggccaccaacAtctttgcacaggtgccacag	8	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:23366710A>G	uc002dln.2	+	4	852	c.676A>G	c.(676-678)ATC>GTC	p.I226V		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	226	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GGCCACCAACATCTTTGCACA	0.577													G	23366710	A	G	23366710	3	3	27	1	0	0	0	0	1	0	0	0	13928	217	8	3	686	3	SCNN1B	16	23366710	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	143325	23366710	66988043	6686	30637											
SCNN1B	6338	broad.mit.edu	37	chr16	23383173	23383173	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtccccgtccaaaacttctAcagtgactacaacacgacct	6	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:23383173A>G	uc002dln.2	+	7	1297	c.1121A>G	c.(1120-1122)TAC>TGC	p.Y374C		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	374	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CAAAACTTCTACAGTGACTAC	0.597													G	23383173	A	G	23383173	3	3	27	1	0	0	0	0	1	0	0	0	13928	391	14	3	1143	3	SCNN1B	16	23383173	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	16463	23383173	66971580	6687	30638											
COG7	91949	broad.mit.edu	37	chr16	23453914	23453914	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtctggtgtatcaacaagcAtcattaagctgttctgcata	8	8	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:23453914A>G	uc002dlo.2	-	4	676	c.488T>C	c.(487-489)ATG>ACG	p.M163T		NM_153603	NP_705831	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	163					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0				GBM - Glioblastoma multiforme(48;0.0401)		ATCAACAAGCATCATTAAGCT	0.438													G	23453914	A	G	23453914	3	3	27	1	0	0	0	0	1	0	0	0	3663	217	8	3	1880	3	COG7	16	23453914	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	70741	23453914	66900839	6688	30639											
NDUFAB1	4706	broad.mit.edu	37	chr16	23607444	23607444	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaaagtcaccacgagtcacCtgcgcgagcactaaggccgg	12	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:23607444C>A	uc002dlw.2	-	1	196	c.168G>T	c.(166-168)CAG>CAT	p.Q56H		NM_005003	NP_004994	O14561	ACPM_HUMAN	NADH dehydrogenase (ubiquinone) 1, alpha/beta	56					fatty acid biosynthetic process|mitochondrial electron transport, NADH to ubiquinone	mitochondrial matrix|mitochondrial respiratory chain complex I	acyl carrier activity|calcium ion binding|cofactor binding|fatty acid binding|NADH dehydrogenase (ubiquinone) activity|phosphopantetheine binding				0				GBM - Glioblastoma multiforme(48;0.0339)	NADH(DB00157)	CACGAGTCACCTGCGCGAGCA	0.721													A	23607444	C	A	23607444	3	1	27	1	0	0	0	0	1	0	0	0	10273	695	24	5	318	5	NDUFAB1	16	23607444	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	153530	23607444	66747309	6689	30640											
PRKCB	5579	broad.mit.edu	37	chr16	24192144	24192144	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaacgtgatgctcgattcTgagggacacatcaagattgc	11	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:24192144T>C	uc002dmd.2	+	13	1625	c.1428T>C	c.(1426-1428)TCT>TCC	p.S476S	PRKCB_uc002dme.2_Silent_p.S476S	NM_212535	NP_997700	P05771	KPCB_HUMAN	protein kinase C, beta isoform 1	476	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)	TGCTCGATTCTGAGGGACACA	0.438													C	24192144	T	C	24192144	2	2	27	1	0	0	0	0	0	0	0	1	12508	1567	55	3		3	PRKCB	16	24192144	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	584700	24192144	66162609	6690	30641											
RBBP6	5930	broad.mit.edu	37	chr16	24578545	24578545	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaactccagtctttgtAcctgttccaccacctccttt	4	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:24578545A>T	uc002dmh.2	+	15	2711	c.1671A>T	c.(1669-1671)GTA>GTT	p.V557V	RBBP6_uc010vcb.1_Silent_p.V424V|RBBP6_uc002dmi.2_Silent_p.V557V|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Silent_p.V424V	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	557					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		CAGTCTTTGTAcctgttccac	0.254													T	24578545	A	T	24578545	2	4	27	1	0	0	0	0	0	0	0	1	13103	378	14	5		5	RBBP6	16	24578545	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	386401	24578545	65776208	6691	30642											
RBBP6	5930	broad.mit.edu	37	chr16	24581095	24581095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaatgatggatctgctgtGtccaaaaaagaaaatattgt	9	4	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:24581095G>A	uc002dmh.2	+	17	4124	c.3084G>A	c.(3082-3084)GTG>GTA	p.V1028V	RBBP6_uc010vcb.1_Silent_p.V895V|RBBP6_uc002dmi.2_Silent_p.V994V|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Silent_p.V861V	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1028	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		GATCTGCTGTGTCCAAAAAAG	0.373													A	24581095	G	A	24581095	2	1	27	1	0	0	0	0	0	0	0	1	13103	1364	48	4		4	RBBP6	16	24581095	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2550	24581095	65773658	6692	30643											
TNRC6A	27327	broad.mit.edu	37	chr16	24802947	24802947	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccatccccagaatctaTacgtcgcaaaatggagattg	9	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:24802947T>C	uc002dmm.2	+	6	3098	c.2984T>C	c.(2983-2985)ATA>ACA	p.I995T	TNRC6A_uc010bxs.2_Missense_Mutation_p.I742T|TNRC6A_uc010vcc.1_Missense_Mutation_p.I742T|TNRC6A_uc002dmn.2_Missense_Mutation_p.I742T|TNRC6A_uc002dmo.2_Missense_Mutation_p.I742T	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	995	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		CCAGAATCTATACGTCGCAAA	0.483													C	24802947	T	C	24802947	3	2	27	1	0	0	0	0	1	0	0	0	16337	1406	49	3	3006	3	TNRC6A	16	24802947	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	221852	24802947	65551806	6693	30644											
SLC5A11	115584	broad.mit.edu	37	chr16	24919375	24919375	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctcttcatctatatccagTccatcagctcctacctgcag	5	15	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:24919375T>G	uc002dmu.2	+	13	1589	c.1357T>G	c.(1357-1359)TCC>GCC	p.S453A	SLC5A11_uc002dms.2_Missense_Mutation_p.S389A|SLC5A11_uc010vcd.1_Missense_Mutation_p.S418A|SLC5A11_uc002dmt.2_Missense_Mutation_p.S297A|SLC5A11_uc010vce.1_Missense_Mutation_p.S383A|SLC5A11_uc010bxt.2_Missense_Mutation_p.S389A|SLC5A11_uc002dmv.2_Missense_Mutation_p.S76A	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	453	Helical; (Potential).				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0365)		CTATATCCAGTCCATCAGCTC	0.582													G	24919375	T	G	24919375	3	3	27	1	0	0	0	0	1	0	0	0	14663	1667	58	5	1403	5	SLC5A11	16	24919375	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	116428	24919375	65435378	6694	30645											
SLC5A11	115584	broad.mit.edu	37	chr16	24922695	24922695	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgaaggccatcctgtgGctctgtggaatacaggagaa	15	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:24922695G>A	uc002dmu.2	+	16	2101	c.1869G>A	c.(1867-1869)TGG>TGA	p.W623*	SLC5A11_uc002dms.2_Nonsense_Mutation_p.W559*|SLC5A11_uc010vcd.1_Nonsense_Mutation_p.W588*|SLC5A11_uc002dmt.2_Nonsense_Mutation_p.W467*|SLC5A11_uc010vce.1_Nonsense_Mutation_p.W553*|SLC5A11_uc010bxt.2_Nonsense_Mutation_p.W559*|SLC5A11_uc002dmv.2_Nonsense_Mutation_p.W246*	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	623	Cytoplasmic (Potential).				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0365)		CCATCCTGTGGCTCTGTGGAA	0.537													A	24922695	G	A	24922695	4	1	27	1	0	0	0	0	0	1	0	0	14663	1212	42	2	1927	2	SLC5A11	16	24922695	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3320	24922695	65432058	6695	30646											
ARHGAP17	55114	broad.mit.edu	37	chr16	24950789	24950789	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagctctggggagggggctcTgggccagcgggcaccacggt	20	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:24950789T>C	uc002dnb.2	-	17	1713	c.1620A>G	c.(1618-1620)CCA>CCG	p.P540P	ARHGAP17_uc002dmy.2_5'Flank|ARHGAP17_uc002dmz.2_Silent_p.P64P|ARHGAP17_uc002dna.2_Silent_p.P267P|ARHGAP17_uc002dnc.2_Intron|ARHGAP17_uc010vcf.1_Intron	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	540	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		GAGGGGGCTCTGGGCCAGCGG	0.677													C	24950789	T	C	24950789	2	2	27	1	0	0	0	0	0	0	0	1	867	1567	55	3		3	ARHGAP17	16	24950789	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	28094	24950789	65403964	6696	30647											
ARHGAP17	55114	broad.mit.edu	37	chr16	24955129	24955129	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggcatgctgaatgatgggTtcaatcactgcaaccacatg	10	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:24955129T>C	uc002dnb.2	-	15	1389	c.1296A>G	c.(1294-1296)GAA>GAG	p.E432E	ARHGAP17_uc002dna.2_Silent_p.E159E|ARHGAP17_uc002dnc.2_Silent_p.E432E|ARHGAP17_uc010vcf.1_Silent_p.E253E	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	432	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		GAATGATGGGTTCAATCACTG	0.433													C	24955129	T	C	24955129	2	2	27	1	0	0	0	0	0	0	0	1	867	1722	60	3		3	ARHGAP17	16	24955129	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4340	24955129	65399624	6697	30648											
IL4R	3566	broad.mit.edu	37	chr16	27374122	27374122	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagtccagacaacctgacTtgcacagagacgcccctcgt	9	15	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:27374122T>G	uc002don.2	+	11	1691	c.1449T>G	c.(1447-1449)ACT>ACG	p.T483T	IL4R_uc002dop.3_Silent_p.T468T|IL4R_uc010bxy.2_Silent_p.T483T|IL4R_uc002doo.2_Silent_p.T323T	NM_000418	NP_000409	P24394	IL4RA_HUMAN	interleukin 4 receptor alpha chain isoform a	483	Cytoplasmic (Potential).|Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			ovary(1)|skin(1)	2						ACAACCTGACTTGCACAGAGA	0.647													G	27374122	T	G	27374122	2	3	27	1	0	0	0	0	0	0	0	1	7698	1596	56	5		5	IL4R	16	27374122	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2418993	27374122	62980631	6698	30649											
IL21R	50615	broad.mit.edu	37	chr16	27454346	27454346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtataatatctcctggcGctcagattacgaagaccctg	8	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:27454346G>A	uc002doq.1	+	5	649	c.416G>A	c.(415-417)CGC>CAC	p.R139H	IL21R_uc002dor.1_Missense_Mutation_p.R139H|IL21R_uc002dos.1_Missense_Mutation_p.R139H	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	139	Extracellular (Potential).|Fibronectin type-III.				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4						ATCTCCTGGCGCTCAGATTAC	0.527			T	BCL6	NHL								A	27454346	G	A	27454346	3	1	27	1	0	0	0	0	1	0	0	0	7671	1087	38	1	430	1	IL21R	16	27454346	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	80224	27454346	62900407	6699	30650											
GTF3C1	2975	broad.mit.edu	37	chr16	27499693	27499693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccagccagcacagagctcGgagcctactcttgcttcccc	8	18	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:27499693G>A	uc002dov.1	-	23	3595	c.3555C>T	c.(3553-3555)TCC>TCT	p.S1185S	GTF3C1_uc002dou.2_Silent_p.S1185S	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1185						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CACAGAGCTCGGAGCCTACTC	0.562													A	27499693	G	A	27499693	2	1	27	1	0	0	0	0	0	0	0	1	6872	1103	39	1		1	GTF3C1	16	27499693	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	45347	27499693	62855060	6700	30651											
GTF3C1	2975	broad.mit.edu	37	chr16	27518381	27518382	+	Frame_Shift_Del	DEL	TC	TC	-													caagagctcgctgcgggcctTctctctttggtactgccggc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:27518380_27518381TTC>T	uc002dov.2	-	8	1379_1380	c.1339_1340GAA>A	c.(1339-1341)aagfs	p.K447fs	GTF3C1_uc002dou.3_Frame_Shift_Del_p.K447fs	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	447						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCTGCGGGCCTTCTCTCTTTGG	0.579													-	27518382	TC	-	27518381	7	5	27	1	0	1	0	1	0	0	0	0	6872	1792	62	0	5106	0	GTF3C1	16	27518381	Frame_Shift_Del	DEL	TC	TCGA-BR-6452-01A-12D-1800-08	18688	27518381	62836372	6701	30652											
KIAA0556	23247	broad.mit.edu	37	chr16	27689178	27689178	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggacccggcactggtGggccatcccagacatgaccg	13	15	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:27689178G>A	uc002dow.2	+	7	693	c.669G>A	c.(667-669)GTG>GTA	p.V223V	KIAA0556_uc002dox.1_Silent_p.V131V	NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	223										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						CGGCACTGGTGGGCCATCCCA	0.532													A	27689178	G	A	27689178	2	1	27	1	0	0	0	0	0	0	0	1	8183	1335	47	4		4	KIAA0556	16	27689178	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	170797	27689178	62665575	6702	30653											
KIAA0556	23247	broad.mit.edu	37	chr16	27761012	27761012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccttcgaccgctcccacCggggacgcatctccaacacg	10	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:27761012C>T	uc002dow.2	+	16	2755	c.2731C>T	c.(2731-2733)CGG>TGG	p.R911W		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	911										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						CCGCTCCCACCGGGGACGCAT	0.642													T	27761012	C	T	27761012	3	4	27	1	0	0	0	0	1	0	0	0	8183	643	23	1	2793	1	KIAA0556	16	27761012	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	71834	27761012	62593741	6703	30654											
SULT1A2	6799	broad.mit.edu	37	chr16	28604874	28604874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccacatcctttgcgttgcGggcaacatagaccacctgca	9	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:28604874G>A	uc002dqg.1	-	5	739	c.388C>T	c.(388-390)CGC>TGC	p.R130C	uc010vct.1_Intron|SULT1A2_uc002dqh.1_Missense_Mutation_p.R130C	NM_177528	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A,	130	PAPS (By similarity).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						TTTGCGTTGCGGGCAACATAG	0.527													A	28604874	G	A	28604874	3	1	27	1	0	0	0	0	1	0	0	0	15372	1116	39	1	515	1	SULT1A2	16	28604874	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	843862	28604874	61749879	6704	30655											
ATXN2L	11273	broad.mit.edu	37	chr16	28844210	28844210	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttggggcccagtttaaggTgagagaagagtgagctggga	18	4	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:28844210T>C	uc002drc.2	+	13	1827	c.1659_splice	c.e13+2	p.K553_splice	uc010vct.1_Intron|ATXN2L_uc010byl.1_Splice_Site_p.K529_splice|ATXN2L_uc002drb.2_Splice_Site_p.K553_splice|ATXN2L_uc002dqy.2_Splice_Site_p.K553_splice|ATXN2L_uc002dra.2_Splice_Site_p.K553_splice|ATXN2L_uc002dqz.2_Splice_Site_p.K553_splice|ATXN2L_uc010vdb.1_Splice_Site_p.K559_splice|ATXN2L_uc002dre.2_Splice_Site_p.K553_splice|ATXN2L_uc002drf.2_Intron|ATXN2L_uc002drg.2_5'Flank	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A							membrane				upper_aerodigestive_tract(1)|ovary(1)	2						CAGTTTAAGGTGAGAGAAGAG	0.433													C	28844210	T	C	28844210	5	2	27	1	0	0	0	0	0	0	1	0	1212	1710	59	3	1711	3	ATXN2L	16	28844210	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	239336	28844210	61510543	6705	30656											
ATXN2L	11273	broad.mit.edu	37	chr16	28844557	28844557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggacaaaccacccctgGcaccatcaggaggcactgag	12	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:28844557G>A	uc002drc.2	+	14	2005	c.1837G>A	c.(1837-1839)GCA>ACA	p.A613T	uc010vct.1_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.A589T|ATXN2L_uc002drb.2_Missense_Mutation_p.A613T|ATXN2L_uc002dqy.2_Missense_Mutation_p.A613T|ATXN2L_uc002dra.2_Missense_Mutation_p.A613T|ATXN2L_uc002dqz.2_Missense_Mutation_p.A613T|ATXN2L_uc010vdb.1_Missense_Mutation_p.A619T|ATXN2L_uc002dre.2_Missense_Mutation_p.A613T|ATXN2L_uc002drf.2_Missense_Mutation_p.A22T|ATXN2L_uc002drg.2_5'Flank	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	613						membrane				upper_aerodigestive_tract(1)|ovary(1)	2						ACCACCCCTGGCACCATCAGG	0.592													A	28844557	G	A	28844557	3	1	27	1	0	0	0	0	1	0	0	0	1212	1203	42	2	1891	2	ATXN2L	16	28844557	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	347	28844557	61510196	6706	30657											
ATXN2L	11273	broad.mit.edu	37	chr16	28845679	28845679	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cccaggcacctcagatgtatCcatatcctgtatccaattca	5	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:28845679C>A	uc002drc.2	+	17	2356	c.2188C>A	c.(2188-2190)CCA>ACA	p.P730T	uc010vct.1_Intron|ATXN2L_uc002drb.2_Missense_Mutation_p.P730T|ATXN2L_uc002dqy.2_Missense_Mutation_p.P730T|ATXN2L_uc002dra.2_Missense_Mutation_p.P730T|ATXN2L_uc002dqz.2_Missense_Mutation_p.P730T|ATXN2L_uc010vdb.1_Missense_Mutation_p.P736T|ATXN2L_uc002dre.2_Missense_Mutation_p.P730T|ATXN2L_uc002drf.2_Missense_Mutation_p.P139T|ATXN2L_uc002drg.2_Missense_Mutation_p.P12T	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	730						membrane				upper_aerodigestive_tract(1)|ovary(1)	2						TCAGATGTATCCATATCCTGT	0.612													A	28845679	C	A	28845679	3	1	27	1	0	0	0	0	1	0	0	0	1212	855	30	5	2254	5	ATXN2L	16	28845679	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1122	28845679	61509074	6707	30658											
SH2B1	25970	broad.mit.edu	37	chr16	28883270	28883270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcatcccctctcagccccCtaccctcccttggacactcc	4	22	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:28883270C>T	uc002dri.2	+	8	1918	c.1479C>T	c.(1477-1479)CCC>CCT	p.P493P	uc010vct.1_Intron|SH2B1_uc010vdc.1_Silent_p.P183P|SH2B1_uc002drj.2_Silent_p.P493P|SH2B1_uc002drk.2_Silent_p.P493P|SH2B1_uc002drl.2_Silent_p.P493P|SH2B1_uc010vdd.1_Silent_p.P157P|SH2B1_uc010vde.1_Silent_p.P493P|SH2B1_uc002drm.2_Silent_p.P493P	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	493	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2						TCTCAGCCCCCTACCCTCCCT	0.612													T	28883270	C	T	28883270	2	4	27	1	0	0	0	0	0	0	0	1	14227	668	24	4		4	SH2B1	16	28883270	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	37591	28883270	61471483	6708	30659											
RABEP2	79874	broad.mit.edu	37	chr16	28916347	28916347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagggtctcagcctggcGgatccgctctaggcgcacct	12	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:28916347G>A	uc002drq.2	-	13	1675	c.1627C>T	c.(1627-1629)CGC>TGC	p.R543C	uc010vct.1_Intron|RABEP2_uc010vdf.1_Missense_Mutation_p.R472C|RABEP2_uc010byn.2_Missense_Mutation_p.R507C	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	543					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			ovary(1)|breast(1)|skin(1)	3						TCAGCCTGGCGGATCCGCTCT	0.662													A	28916347	G	A	28916347	3	1	27	1	0	0	0	0	1	0	0	0	12962	1116	39	1	86	1	RABEP2	16	28916347	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	33077	28916347	61438406	6709	30660											
RABEP2	79874	broad.mit.edu	37	chr16	28931258	28931258	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgggcttcatagctgctgAtggagtctggtgggggagag	18	6	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:28931258A>G	uc002drq.2	-	3	329	c.281T>C	c.(280-282)ATC>ACC	p.I94T	uc010vct.1_Intron|RABEP2_uc010vdf.1_Missense_Mutation_p.I23T|RABEP2_uc010byn.2_Missense_Mutation_p.I94T|RABEP2_uc002drr.2_Missense_Mutation_p.I94T	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	94	Potential.				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			ovary(1)|breast(1)|skin(1)	3						ATAGCTGCTGATGGAGTCTGG	0.517													G	28931258	A	G	28931258	3	3	27	1	0	0	0	0	1	0	0	0	12962	333	12	3	1472	3	RABEP2	16	28931258	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	14911	28931258	61423495	6710	30661											
SPNS1	83985	broad.mit.edu	37	chr16	28995608	28995608	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccgcgtgcccgtggccagTgtgctcatctgagaggctgc	14	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:28995608T>C	uc010vdi.1	+	13	1715	c.1575T>C	c.(1573-1575)AGT>AGC	p.S525S	uc010vct.1_Intron|SPNS1_uc002drx.2_Silent_p.S452S|SPNS1_uc002dsa.2_Silent_p.S525S|SPNS1_uc002drz.2_Silent_p.S473S|SPNS1_uc010byp.2_Silent_p.S451S|SPNS1_uc010byq.1_Missense_Mutation_p.V400A|LAT_uc010vdj.1_5'Flank|LAT_uc002dsb.2_5'Flank|LAT_uc002dsd.2_5'Flank|LAT_uc002dsc.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 isoform 1	525					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding				0						CCGTGGCCAGTGTGCTCATCT	0.701													C	28995608	T	C	28995608	2	2	27	1	0	0	0	0	0	0	0	1	15073	1693	59	3		3	SPNS1	16	28995608	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	64350	28995608	61359145	6711	30662											
PRRT2	112476	broad.mit.edu	37	chr16	29825671	29825671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcccggaacagcctgcaGcagggggacgtggacggggc	18	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:29825671G>A	uc002due.3	+	3	1198	c.897G>A	c.(895-897)CAG>CAA	p.Q299Q	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Silent_p.Q299Q|PRRT2_uc002duf.1_3'UTR|C16orf53_uc002dug.3_5'Flank	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	299	Cytoplasmic (Potential).				response to biotic stimulus	integral to membrane					0						ACAGCCTGCAGCAGGGGGACG	0.652													A	29825671	G	A	29825671	2	1	27	1	0	0	0	0	0	0	0	1	12610	962	34	2		2	PRRT2	16	29825671	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	830063	29825671	60529082	6712	30663											
SEZ6L2	26470	broad.mit.edu	37	chr16	29891331	29891331	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcgatactcagggtccgtgGtagtgacatttccatgtgcc	13	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:29891331G>T	uc002duq.3	-	9	1667	c.1427C>A	c.(1426-1428)ACC>AAC	p.T476N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.T406N|SEZ6L2_uc002dur.3_Missense_Mutation_p.T406N|SEZ6L2_uc002dus.3_Missense_Mutation_p.T362N|SEZ6L2_uc010vec.1_Missense_Mutation_p.T476N|SEZ6L2_uc010ved.1_Missense_Mutation_p.T432N	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	476	Sushi 2.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						AGGGTCCGTGGTAGTGACATT	0.582													T	29891331	G	T	29891331	3	4	27	1	0	0	0	0	1	0	0	0	14144	1261	44	5	1384	5	SEZ6L2	16	29891331	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	65660	29891331	60463422	6713	30664											
TAOK2	9344	broad.mit.edu	37	chr16	29990778	29990778	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccatggatgaggggcagTacgatggcaaagtggacgtc	17	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:29990778T>C	uc002dva.1	+	8	1387	c.604T>C	c.(604-606)TAC>CAC	p.Y202H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.Y202H|TAOK2_uc002dvc.1_Missense_Mutation_p.Y202H|TAOK2_uc010bzm.1_Missense_Mutation_p.Y202H|TAOK2_uc002dvd.1_5'Flank	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	202	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						TGAGGGGCAGTACGATGGCAA	0.547													C	29990778	T	C	29990778	3	2	27	1	0	0	0	0	1	0	0	0	15545	1638	57	3	630	3	TAOK2	16	29990778	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	99447	29990778	60363975	6714	30665											
TAOK2	9344	broad.mit.edu	37	chr16	30002499	30002499	+	Frame_Shift_Del	DEL	G	G	-													ggcttctccagcatggctctGgggggcatcccggctgaagc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:30002498_30002498TG>T	uc002dvc.2	+	18	3576	c.2759_2759TG>T	c.(2758-2760)ctgfs	p.L920fs	BOLA2_uc010bzb.1_Intron	NM_004783	NP_004774	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 2, mRNA.	809					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AGCATGGCTCTGGGGGGCATC	0.682													-	30002499	G	-	30002499	7	5	27	1	0	1	0	1	0	0	0	0	15545	1335	47	0	4306	0	TAOK2	16	30002499	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	11721	30002499	60352254	6715	30666											
DOC2A	8448	broad.mit.edu	37	chr16	30017638	30017638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcctcgggcacctggccCcagggacacgccacctgggg	14	18	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:30017638C>T	uc002dvm.2	-	11	1172	c.1072G>A	c.(1072-1074)GGG>AGG	p.G358R	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|DOC2A_uc002dvl.2_Missense_Mutation_p.G356R|DOC2A_uc002dvn.2_Missense_Mutation_p.G358R|DOC2A_uc010vef.1_RNA|DOC2A_uc002dvo.2_Missense_Mutation_p.G358R|DOC2A_uc002dvp.2_Missense_Mutation_p.G358R|DOC2A_uc002dvq.2_Missense_Mutation_p.G358R	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	358	Interaction with UNC13D.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			ovary(2)	2						GCACCTGGCCCCAGGGACACG	0.706													T	30017638	C	T	30017638	3	4	27	1	0	0	0	0	1	0	0	0	4683	623	22	4	134	4	DOC2A	16	30017638	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	15139	30017638	60337115	6716	30667											
CD2BP2	10421	broad.mit.edu	37	chr16	30364758	30364758	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcgaacatgtccagggAgggtgggggtgtgggattgt	19	6	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:30364758A>G	uc002dxr.2	-	4	992	c.739T>C	c.(739-741)TCC>CCC	p.S247P	CD2BP2_uc002dxs.2_Missense_Mutation_p.S247P	NM_006110	NP_006101	O95400	CD2B2_HUMAN	CD2 antigen (cytoplasmic tail) binding protein	247					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			ovary(1)	1						ATGTCCAGGGAGGGTGGGGGT	0.602													G	30364758	A	G	30364758	3	3	27	1	0	0	0	0	1	0	0	0	2995	304	11	3	298	3	CD2BP2	16	30364758	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	347120	30364758	59989995	6717	30668											
ZNF48	197407	broad.mit.edu	37	chr16	30409310	30409310	+	Frame_Shift_Del	DEL	C	C	-													ggacacaccggggggagcagCccccccgaccagtggtgccc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:30409310delC	uc002dya.1	+	2	798	c.739delC	c.(739-741)CCCfs	p.P247fs	ZNF48_uc002dxz.1_Frame_Shift_Del_p.P124fs	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGGGGAGCAGCCCCCCCGACC	0.637													-	30409310	C	-	30409310	7	5	27	1	0	1	0	1	0	0	0	0	17931	739	26	0	745	0	ZNF48	16	30409310	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	44552	30409310	59945443	6718	30669											
ITGAL	3683	broad.mit.edu	37	chr16	30507514	30507514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctgacagacatcaacggcGatgggctggtagacgtggct	14	10	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:30507514G>A	uc002dyi.3	+	14	1776	c.1600G>A	c.(1600-1602)GAT>AAT	p.D534N	ITGAL_uc002dyj.3_Missense_Mutation_p.D451N|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	534	Potential.|FG-GAP 6.|Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	CATCAACGGCGATGGGCTGGT	0.617													A	30507514	G	A	30507514	3	1	27	1	0	0	0	0	1	0	0	0	7886	1058	37	1	1654	1	ITGAL	16	30507514	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	98204	30507514	59847239	6719	30670											
ZNF768	79724	broad.mit.edu	37	chr16	30536163	30536163	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccaaagcgcttgccgcacTcagggcacttgaagggcttc	13	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:30536163T>C	uc002dyk.3	-	2	1474	c.1298A>G	c.(1297-1299)GAG>GGG	p.E433G	ZNF768_uc010vex.1_Missense_Mutation_p.E402G|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.E402G	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	433	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0						CTTGCCGCACTCAGGGCACTT	0.682													C	30536163	T	C	30536163	3	2	27	1	0	0	0	0	1	0	0	0	18138	1551	54	3	328	3	ZNF768	16	30536163	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	28649	30536163	59818590	6720	30671											
ZNF689	115509	broad.mit.edu	37	chr16	30620959	30620959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtttgggacctgcgcacCctggggaaagagaacaaatc	13	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:30620959C>T	uc002dyx.2	-	2	526	c.206G>A	c.(205-207)GGG>GAG	p.G69E	ZNF689_uc010bzy.2_5'UTR	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	zinc finger protein HIT-39	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			ACCTGCGCACCCTGGGGAAAG	0.602													T	30620959	C	T	30620959	3	4	27	1	0	0	0	0	1	0	0	0	18091	637	22	4	1304	4	ZNF689	16	30620959	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	84796	30620959	59733794	6721	30672											
SRCAP	10847	broad.mit.edu	37	chr16	30724848	30724848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctctttgcagccagagacGcctgctcctgacaggaactc	10	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:30724848G>A	uc002dze.1	+	16	2694	c.2309G>A	c.(2308-2310)CGC>CAC	p.R770H	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R627H|SRCAP_uc010bzz.1_Missense_Mutation_p.R340H	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	770	Helicase ATP-binding.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			AGCCAGAGACGCCTGCTCCTG	0.527													A	30724848	G	A	30724848	3	1	27	1	0	0	0	0	1	0	0	0	15134	1087	38	1	2363	1	SRCAP	16	30724848	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	103889	30724848	59629905	6722	30673											
SRCAP	10847	broad.mit.edu	37	chr16	30727712	30727712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaaatctgttcgaccctcGaccggttacctcccctttca	5	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:30727712G>A	uc002dze.1	+	18	3114	c.2729G>A	c.(2728-2730)CGA>CAA	p.R910Q	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R767Q|SRCAP_uc010bzz.1_Missense_Mutation_p.R480Q	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	910					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			TTCGACCCTCGACCGGTTACC	0.507													A	30727712	G	A	30727712	3	1	27	1	0	0	0	0	1	0	0	0	15134	1058	37	1	2791	1	SRCAP	16	30727712	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2864	30727712	59627041	6723	30674											
SRCAP	10847	broad.mit.edu	37	chr16	30734045	30734045	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccctgcccctactggcctcAgccttccgcttgctgctaac	7	20	1	0	rs150246733	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:30734045A>C	uc002dze.1	+	23	4253	c.3868A>C	c.(3868-3870)AGC>CGC	p.S1290R	SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Intron|SRCAP_uc010bzz.1_Missense_Mutation_p.S860R	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1290	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			TACTGGCCTCAGCCTTCCGCT	0.657													C	30734045	A	C	30734045	3	2	27	1	0	0	0	0	1	0	0	0	15134	188	7	5	3950	5	SRCAP	16	30734045	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	6333	30734045	59620708	6724	30675											
SRCAP	10847	broad.mit.edu	37	chr16	30750183	30750183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagaaaagaaggcgaggacGaccccctaaagcacgagatt	13	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:30750183G>A	uc002dze.1	+	34	9207	c.8822G>A	c.(8821-8823)CGA>CAA	p.R2941Q	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R2736Q	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2941	Pro-rich.|A.T hook 2.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			AGGCGAGGACGACCCCCTAAA	0.597													A	30750183	G	A	30750183	3	1	27	1	0	0	0	0	1	0	0	0	15134	1058	37	1	8948	1	SRCAP	16	30750183	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	16138	30750183	59604570	6725	30676											
SRCAP	10847	broad.mit.edu	37	chr16	30750685	30750685	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggttggaattgacaccAcctgtggtctcactaacccc	11	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:30750685A>G	uc002dze.1	+	34	9709	c.9324A>G	c.(9322-9324)CCA>CCG	p.P3108P	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.P2903P	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	3108					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			AATTGACACCACCTGTGGTCT	0.582													G	30750685	A	G	30750685	2	3	27	1	0	0	0	0	0	0	0	1	15134	146	6	3		3	SRCAP	16	30750685	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	502	30750685	59604068	6726	30677											
PHKG2	5261	broad.mit.edu	37	chr16	30768329	30768329	+	Frame_Shift_Del	DEL	C	C	-													cggctctctttcagcaccggCcccctgggccttttcccatc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:30768328_30768328GC>G	uc002dzk.2	+	9	1341	c.1131_1131GC>G	c.(1129-1131)cggfs	p.R377fs	PHKG2_uc021tgo.1_Intron	NM_000294	NP_000285	P15735	PHKG2_HUMAN	Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA.	377					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	p.R377R(1)		ovary(1)|skin(1)	2			Colorectal(24;0.198)			TTCAGCACCGGCCCCCTGGGC	0.612													-	30768329	C	-	30768329	7	5	27	1	0	1	0	1	0	0	0	0	11847	739	26	0	1166	0	PHKG2	16	30768329	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	17644	30768329	59586424	6727	30678											
SETD1A	9739	broad.mit.edu	37	chr16	30990644	30990644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgaggtggtgccagccccGgagccccctccagccacacc	11	19	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:30990644G>A	uc002ead.1	+	14	4223	c.3537G>A	c.(3535-3537)CCG>CCA	p.P1179P		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1179	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						TGCCAGCCCCGGAGCCCCCTC	0.701													A	30990644	G	A	30990644	2	1	27	1	0	0	0	0	0	0	0	1	14130	1103	39	1		1	SETD1A	16	30990644	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	222315	30990644	59364109	6728	30679											
ZNF668	79759	broad.mit.edu	37	chr16	31072650	31072650	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgggtgtgagcgctcgtgCcgacgcagcagcgtcattgt	15	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:31072650C>T	uc010caf.2	-	3	1956	c.1599G>A	c.(1597-1599)CGG>CGA	p.R533R	ZNF668_uc002eao.2_Silent_p.R533R	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	533	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4						AGCGCTCGTGCCGACGCAGCA	0.672													T	31072650	C	T	31072650	2	4	27	1	0	0	0	0	0	0	0	1	18072	726	26	2		2	ZNF668	16	31072650	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	82006	31072650	59282103	6729	30680											
ZNF668	79759	broad.mit.edu	37	chr16	31072971	31072971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaccccaccaccagctcCtgtgcagggggcacacccgc	10	20	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:31072971C>T	uc010caf.2	-	3	1635	c.1278G>A	c.(1276-1278)CAG>CAA	p.Q426Q	ZNF668_uc002eao.2_Silent_p.Q426Q	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4						CCACCAGCTCCTGTGCAGGGG	0.682													T	31072971	C	T	31072971	2	4	27	1	0	0	0	0	0	0	0	1	18072	680	24	4		4	ZNF668	16	31072971	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	321	31072971	59281782	6730	30681											
ZNF646	9726	broad.mit.edu	37	chr16	31092587	31092587	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaggaggccccatcagaaAcccccagaggcccaggagag	12	16	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:31092587A>C	uc002eap.2	+	2	5231	c.4942A>C	c.(4942-4944)ACC>CCC	p.T1648P		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						CCCATCAGAAACCCCCAGAGG	0.657													C	31092587	A	C	31092587	3	2	27	1	0	0	0	0	1	0	0	0	18059	43	2	5	4944	5	ZNF646	16	31092587	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	19616	31092587	59262166	6731	30682											
PRSS53	339105	broad.mit.edu	37	chr16	31095491	31095491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgggctctggttcctcggCgaagtagacctgccagtcca	12	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:31095491C>T	uc002eaq.2	-	10	1591	c.1591G>A	c.(1591-1593)GCC>ACC	p.A531T	PRSS53_uc002ear.2_Missense_Mutation_p.A325T	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN	polyserase 3 precursor	531					proteolysis	extracellular region	serine-type endopeptidase activity				0						GGTTCCTCGGCGAAGTAGACC	0.647													T	31095491	C	T	31095491	3	4	27	1	0	0	0	0	1	0	0	0	12632	768	27	1	78	1	PRSS53	16	31095491	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2904	31095491	59259262	6732	30683											
MYST1	84148	broad.mit.edu	37	chr16	31142181	31142181	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacccaagctggtggaggaGcacctcaaaagtgcccagta	11	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:31142181G>A	uc002eay.2	+	10	1290	c.1272G>A	c.(1270-1272)GAG>GAA	p.E424E	MYST1_uc002eax.2_Silent_p.E424E|MYST1_uc002eaz.2_Silent_p.E266E|MYST1_uc002eba.2_3'UTR|MYST1_uc002ebb.2_RNA	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	MYST histone acetyltransferase 1 isoform 1	424					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding			ovary(1)	1						TGGTGGAGGAGCACCTCAAAA	0.547													A	31142181	G	A	31142181	2	1	27	1	0	0	0	0	0	0	0	1	10102	962	34	2		2	MYST1	16	31142181	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	46690	31142181	59212572	6733	30684											
PRSS8	5652	broad.mit.edu	37	chr16	31143846	31143846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcgtcgatgttgtacagGcagttacacgtctcacgact	11	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:31143846G>A	uc002ebc.3	-	5	941	c.609C>T	c.(607-609)TGC>TGT	p.C203C	PRSS8_uc010vfe.1_Silent_p.C149C	NM_002773	NP_002764	Q16651	PRSS8_HUMAN	prostasin preproprotein	203	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity				0						TGTTGTACAGGCAGTTACACG	0.592													A	31143846	G	A	31143846	2	1	27	1	0	0	0	0	0	0	0	1	12635	1195	42	2		2	PRSS8	16	31143846	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1665	31143846	59210907	6734	30685											
ITGAX	3687	broad.mit.edu	37	chr16	31383731	31383731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactctgtgacccccattacCttgcgtctgaacttcacgct	7	15	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:31383731C>T	uc002ebu.1	+	18	2260	c.2193C>T	c.(2191-2193)ACC>ACT	p.T731T	ITGAX_uc002ebt.2_Silent_p.T731T	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	731	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CCCCCATTACCTTGCGTCTGA	0.652													T	31383731	C	T	31383731	2	4	27	1	0	0	0	0	0	0	0	1	7889	668	24	4		4	ITGAX	16	31383731	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	239885	31383731	58971022	6735	30686											
ITGAX	3687	broad.mit.edu	37	chr16	31384582	31384582	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacccagcttgaagtccctGctggtggggagtaacctgga	13	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:31384582G>A	uc002ebu.1	+	20	2446	c.2379G>A	c.(2377-2379)CTG>CTA	p.L793L	ITGAX_uc002ebt.2_Silent_p.L793L	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	793	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGAAGTCCCTGCTGGTGGGGA	0.542													A	31384582	G	A	31384582	2	1	27	1	0	0	0	0	0	0	0	1	7889	1306	46	2		2	ITGAX	16	31384582	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	851	31384582	58970171	6736	30687											
ITGAD	3681	broad.mit.edu	37	chr16	31424522	31424522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccctggaagctggggacGccaccgtctgtctcaccatc	12	15	2	0	rs143512956		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:31424522G>A	uc002ebv.1	+	16	2000	c.1951G>A	c.(1951-1953)GCC>ACC	p.A651T	ITGAD_uc010cap.1_Missense_Mutation_p.A652T	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	651	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						AGCTGGGGACGCCACCGTCTG	0.607													A	31424522	G	A	31424522	3	1	27	1	0	0	0	0	1	0	0	0	7884	1087	38	1	2013	1	ITGAD	16	31424522	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	39940	31424522	58930231	6737	30688											
TGFB1I1	7041	broad.mit.edu	37	chr16	31485969	31485969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagagccgactggcaaggGcagcctagacaccatgctgg	13	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:31485969G>A	uc002ecd.1	+	7	631	c.605G>A	c.(604-606)GGC>GAC	p.G202D	TGFB1I1_uc002ece.1_Missense_Mutation_p.G185D|TGFB1I1_uc010caq.1_Missense_Mutation_p.G41D	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced	202	Interaction with PTK2B.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding				0						ACTGGCAAGGGCAGCCTAGAC	0.642													A	31485969	G	A	31485969	3	1	27	1	0	0	0	0	1	0	0	0	15814	1203	42	2	631	2	TGFB1I1	16	31485969	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	61447	31485969	58868784	6738	30689											
TGFB1I1	7041	broad.mit.edu	37	chr16	31487398	31487398	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcggaggctgttccaccgcCctgggaggcagcagcttctt	14	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:31487398C>A	uc002ecd.1	+	8	806	c.780C>A	c.(778-780)GCC>GCA	p.A260A	TGFB1I1_uc002ece.1_Silent_p.A243A|TGFB1I1_uc010caq.1_Silent_p.A99A	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced	260	LIM zinc-binding 1.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding				0						GTTCCACCGCCCTGGGAGGCA	0.657													A	31487398	C	A	31487398	2	1	27	1	0	0	0	0	0	0	0	1	15814	610	22	5		5	TGFB1I1	16	31487398	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1429	31487398	58867355	6739	30690											
ZNF267	10308	broad.mit.edu	37	chr16	31926568	31926568	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtggggatagcttaaaccAtagtttgcaccttactcaac	8	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:31926568A>G	uc002ecs.3	+	4	1207	c.998A>G	c.(997-999)CAT>CGT	p.H333R		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	333	C2H2-type 2; atypical.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						AGCTTAAACCATAGTTTGCAC	0.348													G	31926568	A	G	31926568	3	3	27	1	0	0	0	0	1	0	0	0	17803	217	8	3	1012	3	ZNF267	16	31926568	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	439170	31926568	58428185	6740	30691											
ZNF267	10308	broad.mit.edu	37	chr16	31927166	31927166	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctaaaccttttacttgtttCtcaaatcttattgtgcatga	5	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:31927166C>T	uc002ecs.3	+	4	1805	c.1596C>T	c.(1594-1596)TTC>TTT	p.F532F		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	532	C2H2-type 8.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						TTACTTGTTTCTCAAATCTTA	0.353													T	31927166	C	T	31927166	2	4	27	1	0	0	0	0	0	0	0	1	17803	912	32	4		4	ZNF267	16	31927166	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	598	31927166	58427587	6741	30692											
ZNF267	10308	broad.mit.edu	37	chr16	31927343	31927343	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttagtgactcctcaggtctTactgtgcatcggcgaactca	9	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:31927343T>C	uc002ecs.3	+	4	1982	c.1773T>C	c.(1771-1773)CTT>CTC	p.L591L		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	591	C2H2-type 10.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						CCTCAGGTCTTACTGTGCATC	0.383													C	31927343	T	C	31927343	2	2	27	1	0	0	0	0	0	0	0	1	17803	1741	61	3		3	ZNF267	16	31927343	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	177	31927343	58427410	6742	30693											
ZNF267	10308	broad.mit.edu	37	chr16	31927722	31927722	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggagagagaccctacaaaTgtgaagaatgtggcaaagcc	13	7	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:31927722T>G	uc002ecs.3	+	4	2361	c.2152T>G	c.(2152-2154)TGT>GGT	p.C718G		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	718	C2H2-type 15.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						ACCCTACAAATGTGAAGAATG	0.403													G	31927722	T	G	31927722	3	3	27	1	0	0	0	0	1	0	0	0	17803	1464	51	5	2166	5	ZNF267	16	31927722	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	379	31927722	58427031	6743	30694											
ORC6L	23594	broad.mit.edu	37	chr16	46731415	46731415	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acataaaccacagaaagatgAagatctgacacaggattatg	8	7	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:46731415A>C	uc002eeh.2	+	7	737	c.677A>C	c.(676-678)GAA>GCA	p.E226A		NM_014321	NP_055136	Q9Y5N6	ORC6_HUMAN	origin recognition complex subunit 6	226					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding				0		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CAGAAAGATGAAGATCTGACA	0.358													C	46731415	A	C	46731415	3	2	27	1	0	0	0	0	1	0	0	0	11266	246	9	5	703	5	ORC6L	16	46731415	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	14803693	46731415	43623338	6744	30695											
ABCC12	94160	broad.mit.edu	37	chr16	48173122	48173122	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatatcccgatgagagctgtGggccccagaatgaaaaaggc	13	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:48173122G>T	uc002efc.1	-	5	1129	c.783C>A	c.(781-783)CCC>CCA	p.P261P	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Silent_p.P261P|ABCC12_uc010vgj.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	261	ABC transmembrane type-1 1.|Helical; (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				TGAGAGCTGTGGGCCCCAGAA	0.478													T	48173122	G	T	48173122	2	4	27	1	0	0	0	0	0	0	0	1	52	1335	47	5		5	ABCC12	16	48173122	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1441707	48173122	42181631	6745	30696											
ABCC11	85320	broad.mit.edu	37	chr16	48261759	48261759	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcatggactgacagtggaGggatggtgttctcatctaag	13	7	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:48261759G>T	uc002eff.1	-	3	703	c.353C>A	c.(352-354)CCT>CAT	p.P118H	ABCC11_uc002efg.1_Missense_Mutation_p.P118H|ABCC11_uc002efh.1_Missense_Mutation_p.P118H|ABCC11_uc010vgl.1_Missense_Mutation_p.P118H	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	118	Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGACAGTGGAGGGATGGTGTT	0.517									Cerumen_Type				T	48261759	G	T	48261759	3	4	27	1	0	0	0	0	1	0	0	0	51	1000	35	5	3903	5	ABCC11	16	48261759	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	88637	48261759	42092994	6746	30697											
LONP2	83752	broad.mit.edu	37	chr16	48304092	48304092	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctggagttggtaaaacaaGtgtgggaagatcagtggcca	14	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:48304092G>T	uc002efi.1	+	7	1237	c.1148G>T	c.(1147-1149)AGT>ATT	p.S383I	LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.S339I	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	383					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0						GGTAAAACAAGTGTGGGAAGA	0.473													T	48304092	G	T	48304092	3	4	27	1	0	0	0	0	1	0	0	0	8893	1029	36	5	1174	5	LONP2	16	48304092	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	42333	48304092	42050661	6747	30698											
LONP2	83752	broad.mit.edu	37	chr16	48381563	48381563	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctcggggacgtgatgaaggAgtccgcccacctcgctatca	13	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:48381563A>T	uc002efi.1	+	13	2173	c.2084A>T	c.(2083-2085)GAG>GTG	p.E695V	LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.E651V	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	695					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0						GTGATGAAGGAGTCCGCCCAC	0.612													T	48381563	A	T	48381563	3	4	27	1	0	0	0	0	1	0	0	0	8893	304	11	5	2134	5	LONP2	16	48381563	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	77471	48381563	41973190	6748	30699											
CBLN1	869	broad.mit.edu	37	chr16	49313459	49313459	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcggcctcccgggtcacgtcCtggtcaccagcgaaggctga	14	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:49313459C>A	uc002efq.2	-	3	777	c.438G>T	c.(436-438)CAG>CAT	p.Q146H		NM_004352	NP_004343	P23435	CBLN1_HUMAN	cerebellin 1 precursor	146	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).				nervous system development|synaptic transmission	cell junction|extracellular region|synapse					0		all_cancers(37;0.0766)|all_lung(18;0.24)				GGGTCACGTCCTGGTCACCAG	0.602													A	49313459	C	A	49313459	3	1	27	1	0	0	0	0	1	0	0	0	2704	680	24	5	147	5	CBLN1	16	49313459	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	931896	49313459	41041294	6749	30700											
C16orf78	123970	broad.mit.edu	37	chr16	49407988	49407988	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggaggcaggggaagaagaaAcaagctcccgaggtgggtac	17	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:49407988A>G	uc002efr.2	+	1	181	c.138A>G	c.(136-138)AAA>AAG	p.K46K		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	hypothetical protein LOC123970	46										central_nervous_system(1)	1						GGAAGAAGAAACAAGCTCCCG	0.358													G	49407988	A	G	49407988	2	3	27	1	0	0	0	0	0	0	0	1	1835	40	2	3		3	C16orf78	16	49407988	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	94529	49407988	40946765	6750	30701											
ZNF423	23090	broad.mit.edu	37	chr16	49670423	49670423	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtacatgggctccgacgcGtccacgtcatcctcgctggc	11	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:49670423G>A	uc002efs.2	-	5	2938	c.2640C>T	c.(2638-2640)GAC>GAT	p.D880D	ZNF423_uc010vgn.1_Silent_p.D763D	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	880					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GCTCCGACGCGTCCACGTCAT	0.617													A	49670423	G	A	49670423	2	1	27	1	0	0	0	0	0	0	0	1	17895	1136	40	1		1	ZNF423	16	49670423	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	262435	49670423	40684330	6751	30702											
ZNF423	23090	broad.mit.edu	37	chr16	49671085	49671085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggcacgcttgcttccGcagcagcagctccaggtgca	14	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:49671085G>A	uc002efs.2	-	5	2276	c.1978C>T	c.(1978-1980)CGG>TGG	p.R660W	ZNF423_uc010vgn.1_Missense_Mutation_p.R543W	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	660					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GCTTGCTTCCGCAGCAGCAGC	0.552													A	49671085	G	A	49671085	3	1	27	1	0	0	0	0	1	0	0	0	17895	1086	38	1	1896	1	ZNF423	16	49671085	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	662	49671085	40683668	6752	30703											
ADCY7	113	broad.mit.edu	37	chr16	50326626	50326626	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctgtgtgggaacctgAcaggcgccttccacaagcac	10	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:50326626A>G	uc002egd.1	+	4	845	c.577A>G	c.(577-579)ACA>GCA	p.T193A	ADCY7_uc002egb.1_Missense_Mutation_p.T193A|ADCY7_uc002egc.1_Missense_Mutation_p.T193A	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	193	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGGGAACCTGACAGGCGCCTT	0.597													G	50326626	A	G	50326626	3	3	27	1	0	0	0	0	1	0	0	0	299	275	10	3	591	3	ADCY7	16	50326626	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	655541	50326626	40028127	6753	30704											
NKD1	85407	broad.mit.edu	37	chr16	50583381	50583381	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggctcggaagggcatcgaggAgtggatcgggagacagcgct	19	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:50583381A>T	uc002egg.1	+	3	331	c.107A>T	c.(106-108)GAG>GTG	p.E36V		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	naked cuticle homolog 1	36					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding				0		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GGCATCGAGGAGTGGATCGGG	0.672													T	50583381	A	T	50583381	3	4	27	1	0	0	0	0	1	0	0	0	10441	304	11	5	117	5	NKD1	16	50583381	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	256755	50583381	39771372	6754	30705											
NKD1	85407	broad.mit.edu	37	chr16	50667258	50667258	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttgacaccccaatcgccAaggtctcagagctccagcaa	7	16	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:50667258A>G	uc002egg.1	+	10	1203	c.979A>G	c.(979-981)AAG>GAG	p.K327E		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	naked cuticle homolog 1	327					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding				0		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CCCAATCGCCAAGGTCTCAGA	0.642													G	50667258	A	G	50667258	3	3	27	1	0	0	0	0	1	0	0	0	10441	131	5	3	1017	3	NKD1	16	50667258	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	83877	50667258	39687495	6755	30706											
SNX20	124460	broad.mit.edu	37	chr16	50707797	50707797	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactcctgcagggcgcgccgAcgctcacagatcatctcctc	9	17	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:50707797A>G	uc002egk.2	-	4	644	c.471T>C	c.(469-471)CGT>CGC	p.R157R	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	sorting nexin 20 isoform 1	157	PX.	Phosphatidylinositol 3-phosphate (By similarity).			cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			ovary(1)	1						GGGCGCGCCGACGCTCACAGA	0.642													G	50707797	A	G	50707797	2	3	27	1	0	0	0	0	0	0	0	1	14892	262	10	3		3	SNX20	16	50707797	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	40539	50707797	39646956	6756	30707											
SALL1	6299	broad.mit.edu	37	chr16	51175895	51175895	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaggtttcgggtggggAggctggattttcatttacga	17	4	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:51175895A>G	uc010vgs.1	-	2	269	c.238T>C	c.(238-240)TCC>CCC	p.S80P	SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	80					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCGGGTGGGGAGGCTGGATTT	0.443													G	51175895	A	G	51175895	3	3	27	1	0	0	0	0	1	0	0	0	13810	304	11	3	3744	3	SALL1	16	51175895	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	468098	51175895	39178858	6757	30708											
RBL2	5934	broad.mit.edu	37	chr16	53504299	53504299	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttctctgtcactaggtatTgccaatgaaaatggagggat	10	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:53504299T>C	uc002ehi.3	+	16	2368	c.2250T>C	c.(2248-2250)ATT>ATC	p.I750I	RBL2_uc002ehj.2_Silent_p.I460I|RBL2_uc010vgw.1_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	750	Spacer.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						CACTAGGTATTGCCAATGAAA	0.483													C	53504299	T	C	53504299	2	2	27	1	0	0	0	0	0	0	0	1	13110	1800	63	3		3	RBL2	16	53504299	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2328404	53504299	36850454	6758	30709											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53675335	53675335	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatttccatttcaatatAacatggatggtgccagcagg	9	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:53675335A>G	uc002ehp.2	-	18	2800	c.2736T>C	c.(2734-2736)GTT>GTC	p.V912V	RPGRIP1L_uc002eho.3_Silent_p.V912V|RPGRIP1L_uc010vgy.1_Silent_p.V912V|RPGRIP1L_uc010cbx.2_Silent_p.V912V|RPGRIP1L_uc010vgz.1_Silent_p.V912V	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	912					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				ATTTCAATATAACATGGATGG	0.343													G	53675335	A	G	53675335	2	3	27	1	0	0	0	0	0	0	0	1	13550	349	13	3		3	RPGRIP1L	16	53675335	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	171036	53675335	36679418	6759	30710											
FTO	79068	broad.mit.edu	37	chr16	54145700	54145700	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcacgaattgcccgaacatTacctgctgatcagaagccag	9	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:54145700T>A	uc002ehr.2	+	9	1613	c.1391T>A	c.(1390-1392)TTA>TAA	p.L464*	FTO_uc010vha.1_Nonsense_Mutation_p.L168*|FTO_uc010cbz.2_Nonsense_Mutation_p.L65*|FTO_uc002ehs.2_RNA	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	464					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GCCCGAACATTACCTGCTGAT	0.498													A	54145700	T	A	54145700	4	1	27	1	0	0	0	0	0	1	0	0	6086	1764	61	5	1425	5	FTO	16	54145700	Nonsense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	470365	54145700	36209053	6760	30711											
IRX6	79190	broad.mit.edu	37	chr16	55362679	55362679	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagacctggaggaagaggaGgaggaggaggaggaagctga	21	3	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:55362679G>T	uc002ehy.2	+	5	1322	c.789G>T	c.(787-789)GAG>GAT	p.E263D	IRX6_uc002ehx.2_Missense_Mutation_p.E263D	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	263						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						aggaagaggaggaggaggagg	0.493													T	55362679	G	T	55362679	3	4	27	1	0	0	0	0	1	0	0	0	7848	991	35	5	807	5	IRX6	16	55362679	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1216979	55362679	34992074	6761	30712											
MMP2	4313	broad.mit.edu	37	chr16	55518028	55518028	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaccccactgcggttttctCgaatccatgatggagaggca	11	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:55518028C>T	uc002ehz.3	+	3	792	c.481C>T	c.(481-483)CGA>TGA	p.R161*	MMP2_uc010vhd.1_Nonsense_Mutation_p.R85*|MMP2_uc010ccc.2_Nonsense_Mutation_p.R111*	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	161	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GCGGTTTTCTCGAATCCATGA	0.552													T	55518028	C	T	55518028	4	4	27	1	0	0	0	0	0	1	0	0	9658	876	31	1	498	1	MMP2	16	55518028	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	155349	55518028	34836725	6762	30713											
MMP2	4313	broad.mit.edu	37	chr16	55532275	55532275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgaccagcctgggactgCcccctgatgtccagcgagtg	12	15	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:55532275C>T	uc002ehz.3	+	11	1995	c.1684C>T	c.(1684-1686)CCC>TCC	p.P562S	MMP2_uc010vhd.1_Missense_Mutation_p.P486S|MMP2_uc010ccc.2_Missense_Mutation_p.P512S|MMP2_uc002eia.3_Missense_Mutation_p.P59S	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	562	Required for inhibitor TIMP2 binding.|Hemopexin-like 2.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CCTGGGACTGCCCCCTGATGT	0.552													T	55532275	C	T	55532275	3	4	27	1	0	0	0	0	1	0	0	0	9658	739	26	2	1733	2	MMP2	16	55532275	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	14247	55532275	34822478	6763	30714											
LPCAT2	54947	broad.mit.edu	37	chr16	55583280	55583280	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattgcctatggaagctgggCtggtggaatttactaaaatt	11	6	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:55583280C>A	uc002eie.3	+	10	1208	c.1027C>A	c.(1027-1029)CTG>ATG	p.L343M	LPCAT2_uc002eic.2_Missense_Mutation_p.L73M	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	343	Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0						GGAAGCTGGGCTGGTGGAATT	0.368													A	55583280	C	A	55583280	3	1	27	1	0	0	0	0	1	0	0	0	8911	796	28	5	1065	5	LPCAT2	16	55583280	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	51005	55583280	34771473	6764	30715											
SLC6A2	6530	broad.mit.edu	37	chr16	55719159	55719159	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgtcatcgtcttgtattTtagcctctggaaaggggtga	12	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:55719159T>G	uc002eif.2	+	5	860	c.749T>G	c.(748-750)TTT>TGT	p.F250C	SLC6A2_uc010ccd.2_Missense_Mutation_p.F250C|SLC6A2_uc002eig.2_Missense_Mutation_p.F250C|SLC6A2_uc002eih.2_Missense_Mutation_p.F250C|SLC6A2_uc002eii.2_Missense_Mutation_p.F145C|SLC6A2_uc002eij.2_Missense_Mutation_p.F9C	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	250	Helical; Name=4; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GTCTTGTATTTTAGCCTCTGG	0.498													G	55719159	T	G	55719159	3	3	27	1	0	0	0	0	1	0	0	0	14683	1841	64	5	854	5	SLC6A2	16	55719159	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	135879	55719159	34635594	6765	30716											
CES7	221223	broad.mit.edu	37	chr16	55899902	55899902	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacacttatggctcccgcGgactcgccaaagatggtcac	10	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:55899902G>A	uc002eip.2	-	5	827	c.678C>T	c.(676-678)TCC>TCT	p.S226S	CES7_uc002eio.2_Silent_p.S226S|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Silent_p.S120S	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	226		Acyl-ester intermediate (By similarity).				extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		TGGCTCCCGCGGACTCGCCAA	0.483													A	55899902	G	A	55899902	2	1	27	1	0	0	0	0	0	0	0	1	3272	1103	39	1		1	CES7	16	55899902	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	180743	55899902	34454851	6766	30717											
CES7	221223	broad.mit.edu	37	chr16	55903587	55903587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacgtcctcataggcagCcagggcggacccatcaaaga	11	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:55903587C>T	uc002eip.2	-	4	636	c.487G>A	c.(487-489)GCT>ACT	p.A163T	CES7_uc002eio.2_Missense_Mutation_p.A163T|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Missense_Mutation_p.A57T	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	163						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		TCATAGGCAGCCAGGGCGGAC	0.562													T	55903587	C	T	55903587	3	4	27	1	0	0	0	0	1	0	0	0	3272	739	26	2	1280	2	CES7	16	55903587	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3685	55903587	34451166	6767	30718											
OGFOD1	55239	broad.mit.edu	37	chr16	56501107	56501107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtctgaagaaaagtcaCgtttgtctataagtggctgg	12	6	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:56501107C>T	uc002ejb.2	+	7	789	c.688C>T	c.(688-690)CGT>TGT	p.R230C	OGFOD1_uc002ejc.2_Missense_Mutation_p.R90C	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase	230	Fe2OG dioxygenase.						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)	1					Vitamin C(DB00126)	AGAAAAGTCACGTTTGTCTAT	0.483													T	56501107	C	T	56501107	3	4	27	1	0	0	0	0	1	0	0	0	10841	536	19	1	714	1	OGFOD1	16	56501107	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	597520	56501107	33853646	6768	30719											
NUP93	9688	broad.mit.edu	37	chr16	56782236	56782236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgagggcatctcagagcTtccccatgtggaacggaact	12	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:56782236T>C	uc002eka.2	+	2	198	c.77T>C	c.(76-78)CTT>CCT	p.L26P		NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	26					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(1)|lung(1)	2						ATCTCAGAGCTTCCCCATGTG	0.567													C	56782236	T	C	56782236	3	2	27	1	0	0	0	0	1	0	0	0	10772	1609	56	3	79	3	NUP93	16	56782236	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	281129	56782236	33572517	6769	30720											
HERPUD1	9709	broad.mit.edu	37	chr16	56974002	56974002	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcggatgaatgcacaaggTggccctattgtggaagaaga	14	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:56974002T>C	uc002eke.1	+	6	1159	c.750T>C	c.(748-750)GGT>GGC	p.G250G	HERPUD1_uc002ekf.1_Silent_p.G249G|HERPUD1_uc002ekg.1_Silent_p.G225G|HERPUD1_uc010cco.1_Splice_Site_p.G311_splice|HERPUD1_uc010ccp.1_Intron|HERPUD1_uc002ekh.1_Silent_p.G68G	NM_014685	NP_055500	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum	250	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	protein binding				0						ATGCACAAGGTGGCCCTATTG	0.428			T	ERG	prostate								C	56974002	T	C	56974002	2	2	27	1	0	0	0	0	0	0	0	1	7063	1683	59	3		3	HERPUD1	16	56974002	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	191766	56974002	33380751	6770	30721											
CETP	1071	broad.mit.edu	37	chr16	56995923	56995923	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagtcctgaccctggcccTgctgggcaatgcccatgcct	10	17	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:56995923T>C	uc002eki.2	+	1	89	c.32T>C	c.(31-33)CTG>CCG	p.L11P	CETP_uc002ekj.2_Missense_Mutation_p.L11P	NM_000078	NP_000069	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	11					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			central_nervous_system(1)|skin(1)	2						ACCCTGGCCCTGCTGGGCAAT	0.617													C	56995923	T	C	56995923	3	2	27	1	0	0	0	0	1	0	0	0	3277	1580	55	3	34	3	CETP	16	56995923	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	21921	56995923	33358830	6771	30722											
GPR114	221188	broad.mit.edu	37	chr16	57601918	57601918	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgctgccctgcactacgcGctgctcagctgcctcacctg	10	19	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:57601918G>A	uc002elx.3	+	9	1057	c.972G>A	c.(970-972)GCG>GCA	p.A324A	GPR114_uc010vhr.1_Silent_p.A324A|GPR114_uc002ely.2_Silent_p.A324A	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	324	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						TGCACTACGCGCTGCTCAGCT	0.607													A	57601918	G	A	57601918	2	1	27	1	0	0	0	0	0	0	0	1	6631	1074	38	1		1	GPR114	16	57601918	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	605995	57601918	32752835	6772	30723											
CCDC135	84229	broad.mit.edu	37	chr16	57732783	57732783	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctttaccaaggacactatTgacatctccaagctgcccat	6	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:57732783T>C	uc002emi.2	+	3	314	c.225T>C	c.(223-225)ATT>ATC	p.I75I	CCDC135_uc002emj.2_Silent_p.I75I|CCDC135_uc002emk.2_Silent_p.I75I	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	75						cytoplasm				central_nervous_system(1)	1						AGGACACTATTGACATCTCCA	0.547													C	57732783	T	C	57732783	2	2	27	1	0	0	0	0	0	0	0	1	2769	1800	63	3		3	CCDC135	16	57732783	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	130865	57732783	32621970	6773	30724											
KATNB1	10300	broad.mit.edu	37	chr16	57790289	57790289	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacgtccagacgggctgcacCtccctgaagctgatcctgca	10	15	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:57790289C>A	uc002eml.1	+	19	2114	c.1740C>A	c.(1738-1740)ACC>ACA	p.T580T		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	580	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity				0		all_neural(199;0.223)				CGGGCTGCACCTCCCTGAAGC	0.572													A	57790289	C	A	57790289	2	1	27	1	0	0	0	0	0	0	0	1	7987	668	24	5		5	KATNB1	16	57790289	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	57506	57790289	32564464	6774	30725											
TEPP	374739	broad.mit.edu	37	chr16	58011825	58011825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcagcgcaaccagctggcGggcgtgaagcagcagctcta	15	13	1	1	rs34782585	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:58011825G>A	uc002emw.3	+	2	307	c.270G>A	c.(268-270)GCG>GCA	p.A90A	TEPP_uc002emv.3_Silent_p.A90A	NM_199456	NP_955535	Q6URK8	TEPP_HUMAN	testis/prostate/placenta-expressed protein	90						extracellular region				kidney(1)|central_nervous_system(1)|skin(1)	3						ACCAGCTGGCGGGCGTGAAGC	0.652													A	58011825	G	A	58011825	2	1	27	1	0	0	0	0	0	0	0	1	15757	1103	39	1		1	TEPP	16	58011825	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	221536	58011825	32342928	6775	30726											
ZNF319	57567	broad.mit.edu	37	chr16	58031417	58031417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggccgctcggagctgtgCgtgcgcttgtggtgcaccag	17	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:58031417C>T	uc002emx.1	-	2	1376	c.753G>A	c.(751-753)ACG>ACA	p.T251T		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	251	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CGGAGCTGTGCGTGCGCTTGT	0.627													T	58031417	C	T	58031417	2	4	27	1	0	0	0	0	0	0	0	1	17834	755	27	1		1	ZNF319	16	58031417	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	19592	58031417	32323336	6776	30727											
CSNK2A2	1459	broad.mit.edu	37	chr16	58200527	58200527	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgtggatctaggtctatgTgatacttcttcagataccca	9	8	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:58200527T>C	uc002enc.2	-	9	930	c.788A>G	c.(787-789)CAC>CGC	p.H263R		NM_001896	NP_001887	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	263	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						TAGGTCTATGTGATACTTCTT	0.438													C	58200527	T	C	58200527	3	2	27	1	0	0	0	0	1	0	0	0	3958	1696	59	3	276	3	CSNK2A2	16	58200527	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	169110	58200527	32154226	6777	30728											
GINS3	64785	broad.mit.edu	37	chr16	58438412	58438412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttcccagacttttatcGgacgttttcgccgcatcatg	8	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:58438412G>A	uc002enh.3	+	3	638	c.430G>A	c.(430-432)GGA>AGA	p.G144R	GINS3_uc010cdj.2_Missense_Mutation_p.G183R|GINS3_uc002enj.3_Missense_Mutation_p.G66R|GINS3_uc002eni.3_Missense_Mutation_p.R145Q	NM_022770	NP_073607	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 isoform b	144					DNA replication	nucleus					0						GACTTTTATCGGACGTTTTCG	0.463													A	58438412	G	A	58438412	3	1	27	1	0	0	0	0	1	0	0	0	6389	1117	39	1	561	1	GINS3	16	58438412	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	237885	58438412	31916341	6778	30729											
SETD6	79918	broad.mit.edu	37	chr16	58550154	58550154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtgccactgctgctggCgctgctccacgagctgcagg	15	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:58550154C>T	uc002ens.2	+	3	442	c.383C>T	c.(382-384)GCG>GTG	p.A128V	SETD6_uc010cdl.2_Missense_Mutation_p.A128V|SETD6_uc002enr.2_Missense_Mutation_p.A104V|SETD6_uc010cdm.2_RNA|SETD6_uc010vij.1_Missense_Mutation_p.A52V	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN	SET domain containing 6 isoform a	128	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			ovary(1)	1						CTGCTGCTGGCGCTGCTCCAC	0.567													T	58550154	C	T	58550154	3	4	27	1	0	0	0	0	1	0	0	0	14135	768	27	1	393	1	SETD6	16	58550154	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	111742	58550154	31804599	6779	30730											
CNOT1	23019	broad.mit.edu	37	chr16	58589714	58589714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagacatggttggatgtgGtggatgattatatattcgct	12	4	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:58589714G>A	uc002env.2	-	20	2871	c.2578C>T	c.(2578-2580)CCA>TCA	p.P860S	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.P855S|CNOT1_uc002enx.2_Missense_Mutation_p.P860S|CNOT1_uc002enz.1_Missense_Mutation_p.P289S	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	860					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GTTGGATGTGGTGGATGATTA	0.393													A	58589714	G	A	58589714	3	1	27	1	0	0	0	0	1	0	0	0	3617	1261	44	4	4894	4	CNOT1	16	58589714	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	39560	58589714	31765039	6780	30731											
SLC38A7	55238	broad.mit.edu	37	chr16	58712265	58712265	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctggaaaccaatctcccTggggatggagaggggcagga	15	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:58712265T>C	uc002eod.1	-	5	976	c.583A>G	c.(583-585)AGG>GGG	p.R195G	SLC38A7_uc002eob.1_RNA|SLC38A7_uc002eoc.1_Missense_Mutation_p.R195G|SLC38A7_uc010vil.1_Missense_Mutation_p.R106G|SLC38A7_uc002eoe.1_Missense_Mutation_p.R195G	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	195	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1						CCAATCTCCCTGGGGATGGAG	0.607													C	58712265	T	C	58712265	3	2	27	1	0	0	0	0	1	0	0	0	14609	1579	55	3	837	3	SLC38A7	16	58712265	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	122551	58712265	31642488	6781	30732											
CDH11	1009	broad.mit.edu	37	chr16	65032464	65032464	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcccacaccgtacgcaCccacattggacctctcaggc	8	19	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:65032464C>G	uc002eoi.2	-	4	957	c.523_splice	c.e4+1	p.G175_splice	CDH11_uc010cdn.2_Splice_Site|CDH11_uc002eoj.2_Splice_Site_p.G175_splice|CDH11_uc010vin.1_Splice_Site_p.G49_splice	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ACCGTACGCACCCACATTGGA	0.562			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			G	65032464	C	G	65032464	5	3	27	1	0	0	0	0	0	0	1	0	3097	521	18	5	1906	5	CDH11	16	65032464	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6320199	65032464	25322289	6782	30733											
CDH5	1003	broad.mit.edu	37	chr16	66424419	66424419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccaagtacagcatcttgCggggcgactaccaggacgct	12	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:66424419C>T	uc002eom.3	+	6	1051	c.895C>T	c.(895-897)CGG>TGG	p.R299W	CDH5_uc002eon.1_Missense_Mutation_p.R299W	NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	299	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CAGCATCTTGCGGGGCGACTA	0.562													T	66424419	C	T	66424419	3	4	27	1	0	0	0	0	1	0	0	0	3113	759	27	1	913	1	CDH5	16	66424419	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1391955	66424419	23930334	6783	30734											
TK2	7084	broad.mit.edu	37	chr16	66575795	66575795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtacctcgacgtctgtcGcgttggagaagaattccagg	13	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:66575795G>A	uc002eos.2	-	3	569	c.344C>T	c.(343-345)GCG>GTG	p.A115V	TK2_uc010vip.1_5'UTR|TK2_uc002eor.2_Missense_Mutation_p.A42V|TK2_uc010cdq.2_Missense_Mutation_p.A42V|TK2_uc010cdr.2_Missense_Mutation_p.A24V|TK2_uc010viq.1_Missense_Mutation_p.A115V|TK2_uc010vir.1_Intron	NM_004614	NP_004605	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	73					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		GACGTCTGTCGCGTTGGAGAA	0.448													A	66575795	G	A	66575795	3	1	27	1	0	0	0	0	1	0	0	0	15930	1087	38	1	611	1	TK2	16	66575795	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	151376	66575795	23778958	6784	30735											
CKLF	51192	broad.mit.edu	37	chr16	66586642	66586642	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gataacgtgcagccgaaaatAaaacatcgccccttctgctt	7	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:66586642A>G	uc002eow.2	+	1	171	c.24A>G	c.(22-24)ATA>ATG	p.I8M	CKLF_uc002eox.1_Missense_Mutation_p.I8M|CKLF_uc002eot.2_Missense_Mutation_p.I8M|CKLF_uc002eou.2_Missense_Mutation_p.I8M|CKLF_uc002eov.2_Missense_Mutation_p.I8M	NM_016951	NP_058647	Q9UBR5	CKLF_HUMAN	chemokine-like factor isoform a	8					cell proliferation|lymphocyte chemotaxis|macrophage chemotaxis|neutrophil chemotaxis|secretion by cell	extracellular space|integral to membrane	chemokine activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		AGCCGAAAATAAAACATCGCC	0.597													G	66586642	A	G	66586642	3	3	27	1	0	0	0	0	1	0	0	0	3447	352	13	3	26	3	CKLF	16	66586642	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	10847	66586642	23768111	6785	30736											
CMTM2	146225	broad.mit.edu	37	chr16	66613716	66613716	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcacgaggagggggtgtcGccgctaccggtgggaattaa	19	8	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:66613716G>T	uc002ept.2	+	1	366	c.206G>T	c.(205-207)CGC>CTC	p.R69L	CMTM2_uc010cdu.2_Missense_Mutation_p.R69L	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN	chemokine-like factor superfamily 2	69					chemotaxis	extracellular space|integral to membrane	cytokine activity			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		AGGGGGTGTCGCCGCTACCGG	0.542													T	66613716	G	T	66613716	3	4	27	1	0	0	0	0	1	0	0	0	3583	1087	38	5	208	5	CMTM2	16	66613716	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	27074	66613716	23741037	6786	30737											
DYNC1LI2	1783	broad.mit.edu	37	chr16	66764088	66764088	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggttgtaaaattttcatgtAaaatagctattttcttttca	5	5	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:66764088A>G	uc002eqb.1	-	8	999	c.968T>C	c.(967-969)TTA>TCA	p.L323S	DYNC1LI2_uc010vis.1_Missense_Mutation_p.L246S	NM_006141	NP_006132	O43237	DC1L2_HUMAN	dynein, cytoplasmic, light intermediate	323					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|skin(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		ATTTTCATGTAAAATAGCTAT	0.418													G	66764088	A	G	66764088	3	3	27	1	0	0	0	0	1	0	0	0	4845	372	13	3	534	3	DYNC1LI2	16	66764088	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	150372	66764088	23590665	6787	30738											
C16orf70	80262	broad.mit.edu	37	chr16	67180991	67180991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggtgaccctgtatggccCccccaggcctggtagccacc	11	18	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:67180991C>T	uc002erc.2	+	17	1310	c.1226C>T	c.(1225-1227)CCC>CTC	p.P409L	C16orf70_uc002erd.2_Missense_Mutation_p.P409L|uc002erg.1_5'Flank	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	lin-10	409										ovary(2)	2		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CTGTATGGCCCCCCCAGGCCT	0.592													T	67180991	C	T	67180991	3	4	27	1	0	0	0	0	1	0	0	0	1829	623	22	4	1288	4	C16orf70	16	67180991	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	416903	67180991	23173762	6788	30739											
NOL3	8996	broad.mit.edu	37	chr16	67208597	67208597	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacccggctcggggaccacAtgccccgggttgcccagagc	14	17	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:67208597A>G	uc010vjd.1	+	3	552	c.545A>G	c.(544-546)CAT>CGT	p.H182R	NOL3_uc010vjc.1_Silent_p.T185T|NOL3_uc002erp.2_Silent_p.T123T			O60936	NOL3_HUMAN	RecName: Full=Nucleolar protein 3; AltName: Full=Apoptosis repressor with CARD; AltName: Full=Muscle-enriched cytoplasmic protein;          Short=Myp; AltName: Full=Nucleolar protein of 30 kDa;          Short=Nop30;	120					anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CGGGGACCACATGCCCCGGGT	0.716													G	67208597	A	G	67208597	3	3	27	1	0	0	0	0	1	0	0	0	10523	217	8	3	375	3	NOL3	16	67208597	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	27606	67208597	23146156	6789	30740											
LRRC36	55282	broad.mit.edu	37	chr16	67381447	67381447	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagctgccaagctgcatttTagtcagttgggcaacagtga	11	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:67381447T>C	uc002esv.2	+	4	460	c.441T>C	c.(439-441)TTT>TTC	p.F147F	LRRC36_uc002esw.2_RNA|LRRC36_uc010ceh.2_Silent_p.F26F|LRRC36_uc002esx.2_Silent_p.F26F|LRRC36_uc010vjk.1_Silent_p.F26F|LRRC36_uc010vjl.1_5'UTR|LRRC36_uc002esy.2_5'UTR	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36 isoform 1	147											0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		AGCTGCATTTTAGTCAGTTGG	0.378													C	67381447	T	C	67381447	2	2	27	1	0	0	0	0	0	0	0	1	8990	1751	61	3		3	LRRC36	16	67381447	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	172850	67381447	22973306	6790	30741											
FAM65A	79567	broad.mit.edu	37	chr16	67575559	67575559	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctcttcccttcccagcccCttcgacaaggatgaccagcc	7	19	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:67575559C>A	uc010vjp.1	+	12	1110	c.1014C>A	c.(1012-1014)CCC>CCA	p.P338P	FAM65A_uc010cei.1_Silent_p.P160P|FAM65A_uc002eth.2_Silent_p.P318P|FAM65A_uc010cej.2_Silent_p.P321P|FAM65A_uc002eti.1_Silent_p.P281P|FAM65A_uc010vjq.1_Silent_p.P332P|FAM65A_uc002etj.1_Silent_p.P317P|FAM65A_uc002etk.2_Silent_p.P317P	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	322						cytoplasm	binding	p.T338S(1)		ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TTCCCAGCCCCTTCGACAAGG	0.612													A	67575559	C	A	67575559	2	1	27	1	0	0	0	0	0	0	0	1	5599	668	24	5		5	FAM65A	16	67575559	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	194112	67575559	22779194	6791	30742											
FAM65A	79567	broad.mit.edu	37	chr16	67575891	67575891	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgccactcaccagcccctaGgcccctggtgcagcagcccg	10	21	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:67575891G>T	uc010vjp.1	+	13	1358	c.1262G>T	c.(1261-1263)AGG>ATG	p.R421M	FAM65A_uc010cei.1_Missense_Mutation_p.R243M|FAM65A_uc002eth.2_Missense_Mutation_p.R401M|FAM65A_uc010cej.2_Missense_Mutation_p.R404M|FAM65A_uc002eti.1_Missense_Mutation_p.R364M|FAM65A_uc010vjq.1_Missense_Mutation_p.R415M|FAM65A_uc002etj.1_Missense_Mutation_p.R400M|FAM65A_uc002etk.2_Missense_Mutation_p.R400M	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	405						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCAGCCCCTAGGCCCCTGGTG	0.652													T	67575891	G	T	67575891	3	4	27	1	0	0	0	0	1	0	0	0	5599	1000	35	5	1248	5	FAM65A	16	67575891	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	332	67575891	22778862	6792	30743											
ACD	65057	broad.mit.edu	37	chr16	67693469	67693469	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccgtagccggggctgctcCgtgggcagcaggctgaagcg	17	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:67693469C>A	uc002etq.3	-	4	979	c.642G>T	c.(640-642)ACG>ACT	p.T214T	ACD_uc002etp.3_Silent_p.T211T|ACD_uc002etr.3_Silent_p.T211T|ACD_uc010vjt.1_Nonsense_Mutation_p.G234*|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	214					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGGGCTGCTCCGTGGGCAGCA	0.667													A	67693469	C	A	67693469	2	1	27	1	0	0	0	0	0	0	0	1	135	639	23	5		5	ACD	16	67693469	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	117578	67693469	22661284	6793	30744											
C16orf48	84080	broad.mit.edu	37	chr16	67697179	67697179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgggctctcagtgagtctGccccagcaggcagcagtacc	12	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:67697179G>A	uc002etw.1	-	7	1209	c.926C>T	c.(925-927)GCA>GTA	p.A309V	ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|C16orf48_uc002etv.1_Missense_Mutation_p.A191V|C16orf48_uc010cem.1_3'UTR	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN	hypothetical protein LOC84080	309						microtubule cytoskeleton	protein binding				0		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CAGTGAGTCTGCCCCAGCAGG	0.627													A	67697179	G	A	67697179	3	1	27	1	0	0	0	0	1	0	0	0	1816	1319	46	2	118	2	C16orf48	16	67697179	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3710	67697179	22657574	6794	30745											
RANBP10	57610	broad.mit.edu	37	chr16	67763897	67763897	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccctgggtagaagcgctgGgtggtctcgatggcctcgcc	16	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:67763897G>A	uc002eud.2	-	8	1058	c.942C>T	c.(940-942)ACC>ACT	p.T314T	RANBP10_uc010ceo.2_Silent_p.T85T|RANBP10_uc010vju.1_Silent_p.T258T|RANBP10_uc010vjv.1_Silent_p.T197T|RANBP10_uc010vjw.1_5'UTR	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	314	CTLH.									ovary(1)	1		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		AGAAGCGCTGGGTGGTCTCGA	0.632													A	67763897	G	A	67763897	2	1	27	1	0	0	0	0	0	0	0	1	13026	1219	43	4		4	RANBP10	16	67763897	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	66718	67763897	22590856	6795	30746											
EDC4	23644	broad.mit.edu	37	chr16	67911221	67911221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggctgatctggctttcGcgcacctcaactctccacag	10	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:67911221G>A	uc002eur.2	+	5	719	c.553G>A	c.(553-555)GCG>ACG	p.A185T	EDC4_uc010cer.2_5'UTR|EDC4_uc010vkg.1_Missense_Mutation_p.A117T|EDC4_uc010ces.1_Missense_Mutation_p.A28T|EDC4_uc002eus.2_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	185	WD 1.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TCTGGCTTTCGCGCACCTCAA	0.572													A	67911221	G	A	67911221	3	1	27	1	0	0	0	0	1	0	0	0	4908	1087	38	1	571	1	EDC4	16	67911221	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	147324	67911221	22443532	6796	30747											
EDC4	23644	broad.mit.edu	37	chr16	67915267	67915267	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaaggactggaagaccaaGggatcccctcgaacctcacc	10	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:67915267G>T	uc002eur.2	+	20	2902	c.2736G>T	c.(2734-2736)AAG>AAT	p.K912N	EDC4_uc010cer.2_Missense_Mutation_p.K531N|EDC4_uc002eus.2_Missense_Mutation_p.K642N|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	912					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GGAAGACCAAGGGATCCCCTC	0.572													T	67915267	G	T	67915267	3	4	27	1	0	0	0	0	1	0	0	0	4908	991	35	5	2814	5	EDC4	16	67915267	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4046	67915267	22439486	6797	30748											
CTRL	1506	broad.mit.edu	37	chr16	67964403	67964403	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcaaactggcgagatgCgtgttgtgtactgggctggc	16	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:67964403C>A	uc002euw.2	-	5	417	c.407G>T	c.(406-408)CGC>CTC	p.R136L		NM_001907	NP_001898	P40313	CTRL_HUMAN	chymotrypsin-like precursor	136	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		TGGCGAGATGCGTGTTGTGTA	0.602													A	67964403	C	A	67964403	3	1	27	1	0	0	0	0	1	0	0	0	4028	768	27	5	399	5	CTRL	16	67964403	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	49136	67964403	22390350	6798	30749											
PSMB10	5699	broad.mit.edu	37	chr16	67968708	67968708	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagctctcacctcttcacGggctctgtgggtgagctcag	11	14	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:67968708G>T	uc002eux.1	-	7	803	c.702C>A	c.(700-702)CCC>CCA	p.P234P	CTRL_uc002euw.2_5'Flank	NM_002801	NP_002792	P40306	PSB10_HUMAN	proteasome beta 10 subunit proprotein	234					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		ACCTCTTCACGGGCTCTGTGG	0.612													T	67968708	G	T	67968708	2	4	27	1	0	0	0	0	0	0	0	1	12675	1103	39	5		5	PSMB10	16	67968708	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4305	67968708	22386045	6799	30750											
SLC12A4	6560	broad.mit.edu	37	chr16	67979673	67979673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagggcactgacttctcgCtcccgctcagtcttggtcag	10	14	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:67979673C>T	uc002euz.2	-	21	2982	c.2841G>A	c.(2839-2841)GAG>GAA	p.E947E	LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Silent_p.E941E|SLC12A4_uc010vkh.1_Silent_p.E916E|SLC12A4_uc010vki.1_Silent_p.E941E|SLC12A4_uc010vkj.1_Silent_p.E949E|SLC12A4_uc002eva.2_Silent_p.E947E|SLC12A4_uc010cev.1_RNA	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	947	Cytoplasmic (Potential).				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGACTTCTCGCTCCCGCTCAG	0.592													T	67979673	C	T	67979673	2	4	27	1	0	0	0	0	0	0	0	1	14385	796	28	2		2	SLC12A4	16	67979673	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	10965	67979673	22375080	6800	30751											
DPEP3	64180	broad.mit.edu	37	chr16	68014116	68014116	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgctggggacacccggcgtGgtgaagaggctgggggagcc	21	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:68014116G>T	uc002evc.3	-	1	337	c.243C>A	c.(241-243)ACC>ACA	p.T81T	DPEP3_uc010cex.2_Silent_p.T81T	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	dipeptidase 3 isoform a	56					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(3)	3		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CACCCGGCGTGGTGAAGAGGC	0.657													T	68014116	G	T	68014116	2	4	27	1	0	0	0	0	0	0	0	1	4715	1335	47	5		5	DPEP3	16	68014116	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	34443	68014116	22340637	6801	30752											
NFATC3	4775	broad.mit.edu	37	chr16	68156746	68156746	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtccatggtgggtcaggCcttggccctgcagtttttcc	12	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:68156746C>T	uc002evo.1	+	2	1170	c.960C>T	c.(958-960)GGC>GGT	p.G320G	NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Silent_p.G320G|NFATC3_uc002evm.1_Silent_p.G320G|NFATC3_uc002evn.1_Silent_p.G320G|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells,	320					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GTGGGTCAGGCCTTGGCCCTG	0.498													T	68156746	C	T	68156746	2	4	27	1	0	0	0	0	0	0	0	1	10364	726	26	2		2	NFATC3	16	68156746	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	142630	68156746	22198007	6802	30753											
ESRP2	80004	broad.mit.edu	37	chr16	68264194	68264194	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgggtcaccaacaggcatcaGactggtgtagtcatcagcgg	13	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:68264194G>C	uc010cfa.1	-	15	2307	c.2119C>G	c.(2119-2121)CTG>GTG	p.L707V	ESRP2_uc002evp.1_RNA|ESRP2_uc002evq.1_Missense_Mutation_p.L697V	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	RNA binding motif protein 35B	707					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1						ACAGGCATCAGACTGGTGTAG	0.562											OREG0023896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	68264194	G	C	68264194	3	2	27	1	0	0	0	0	1	0	0	0	5259	933	33	5	68	5	ESRP2	16	68264194	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	107448	68264194	22090559	6803	30754											
SLC7A6OS	84138	broad.mit.edu	37	chr16	68338046	68338046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgtttttgttcttcctgGcgcctgactcctggtccatc	9	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:68338046G>A	uc002evw.1	-	3	580	c.561C>T	c.(559-561)CGC>CGT	p.R187R		NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite	187					protein transport	cytoplasm|nucleus				ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		GTTCTTCCTGGCGCCTGACTC	0.488													A	68338046	G	A	68338046	2	1	27	1	0	0	0	0	0	0	0	1	14702	1190	42	2		2	SLC7A6OS	16	68338046	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	73852	68338046	22016707	6804	30755											
PRMT7	54496	broad.mit.edu	37	chr16	68373745	68373745	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctgccatagcaggcggttTgaacctctgacatctggccg	12	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:68373745T>C	uc002evy.1	+	9	1077	c.801T>C	c.(799-801)TTT>TTC	p.F267F	PRMT7_uc002evx.1_Silent_p.F267F|PRMT7_uc010vlg.1_Silent_p.F217F|PRMT7_uc002evz.1_Silent_p.F113F	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	267					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		GCAGGCGGTTTGAACCTCTGA	0.512													C	68373745	T	C	68373745	2	2	27	1	0	0	0	0	0	0	0	1	12541	1809	63	3		3	PRMT7	16	68373745	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	35699	68373745	21981008	6805	30756											
SMPD3	55512	broad.mit.edu	37	chr16	68397447	68397447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcatcgtacaggccgttcGtgtccagcagagtacctggg	12	13	1	1	rs75117374	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:68397447G>A	uc002ewa.2	-	7	2083	c.1661C>T	c.(1660-1662)ACG>ATG	p.T554M	SMPD3_uc010cfe.2_Missense_Mutation_p.T554M|SMPD3_uc010vlh.1_Missense_Mutation_p.T546M	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	554	Lumenal (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CAGGCCGTTCGTGTCCAGCAG	0.657													A	68397447	G	A	68397447	3	1	27	1	0	0	0	0	1	0	0	0	14806	1145	40	1	318	1	SMPD3	16	68397447	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	23702	68397447	21957306	6806	30757											
CDH3	1001	broad.mit.edu	37	chr16	68712677	68712677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccacagctctttggccacGctgtgtcagagaatggtgcc	11	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:68712677G>A	uc002ewf.2	+	6	1691	c.559G>A	c.(559-561)GCT>ACT	p.A187T	CDH3_uc010vli.1_Missense_Mutation_p.A132T	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	187	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CTTTGGCCACGCTGTGTCAGA	0.567													A	68712677	G	A	68712677	3	1	27	1	0	0	0	0	1	0	0	0	3111	1087	38	1	581	1	CDH3	16	68712677	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	315230	68712677	21642076	6807	30758											
CDH3	1001	broad.mit.edu	37	chr16	68716321	68716321	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctaccttatcatgggcggTgacgacggggaccattttac	11	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:68716321T>C	uc002ewf.2	+	9	2245	c.1113T>C	c.(1111-1113)GGT>GGC	p.G371G	CDH3_uc010vli.1_Silent_p.G316G	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	371	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TCATGGGCGGTGACGACGGGG	0.592													C	68716321	T	C	68716321	2	2	27	1	0	0	0	0	0	0	0	1	3111	1683	59	3		3	CDH3	16	68716321	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3644	68716321	21638432	6808	30759											
CDH1	999	broad.mit.edu	37	chr16	68857436	68857436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgtgtgactgtgaagggGccgctggcgtctgtaggaag	19	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:68857436G>A	uc002ewg.1	+	13	2195	c.2071G>A	c.(2071-2073)GCC>ACC	p.A691T	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.A630T	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	691	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CTGTGAAGGGGCCGCTGGCGT	0.488			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				A	68857436	G	A	68857436	3	1	27	1	0	0	0	0	1	0	0	0	3095	1203	42	2	2121	2	CDH1	16	68857436	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	141115	68857436	21497317	6809	30760											
SNTB2	6645	broad.mit.edu	37	chr16	69279604	69279604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtcaccaagctttagtgGcagtgaggactctggttcgc	12	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:69279604G>A	uc002ewu.2	+	2	700	c.680G>A	c.(679-681)GGC>GAC	p.G227D		NM_006750	NP_006741	Q13425	SNTB2_HUMAN	basic beta 2 syntrophin	227	PH 1.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		AGCTTTAGTGGCAGTGAGGAC	0.493													A	69279604	G	A	69279604	3	1	27	1	0	0	0	0	1	0	0	0	14873	1203	42	2	686	2	SNTB2	16	69279604	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	422168	69279604	21075149	6810	30761											
SNTB2	6645	broad.mit.edu	37	chr16	69334808	69334808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatcggccaaagtcactcGtatgggactgcttgtatgag	11	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:69334808G>A	uc002ewu.2	+	7	1624	c.1604G>A	c.(1603-1605)CGT>CAT	p.R535H	SNTB2_uc010cfk.2_5'Flank	NM_006750	NP_006741	Q13425	SNTB2_HUMAN	basic beta 2 syntrophin	535	Calmodulin-binding (By similarity).|SU.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		AAAGTCACTCGTATGGGACTG	0.413													A	69334808	G	A	69334808	3	1	27	1	0	0	0	0	1	0	0	0	14873	1145	40	1	1630	1	SNTB2	16	69334808	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	55204	69334808	21019945	6811	30762											
TERF2	7014	broad.mit.edu	37	chr16	69401102	69401102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggaggattccgtagctgCctgcaaatcaagcataggca	12	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:69401102C>T	uc002exd.2	-	7	947	c.822G>A	c.(820-822)AGG>AGA	p.R274R		NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	274					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			lung(1)	1		Ovarian(137;0.101)				TCCGTAGCTGCCTGCAAATCA	0.443													T	69401102	C	T	69401102	2	4	27	1	0	0	0	0	0	0	0	1	15759	753	26	2		2	TERF2	16	69401102	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	66294	69401102	20953651	6812	30763											
NFAT5	10725	broad.mit.edu	37	chr16	69727557	69727557	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcagcaacagcagcagCaacagcagcagcaacaacaa	9	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:69727557C>T	uc002exm.1	+	12	4983	c.3775C>T	c.(3775-3777)CAA>TAA	p.Q1259*	NFAT5_uc002exi.2_Nonsense_Mutation_p.Q1183*|NFAT5_uc002exj.1_Nonsense_Mutation_p.Q1183*|NFAT5_uc002exk.1_Nonsense_Mutation_p.Q1183*|NFAT5_uc002exl.1_Nonsense_Mutation_p.Q1277*|NFAT5_uc002exn.1_Nonsense_Mutation_p.Q1276*|NFAT5_uc002exo.1_RNA	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	1259	Poly-Gln.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						acagcagcagcaacagcagca	0.323													T	69727557	C	T	69727557	4	4	27	1	0	0	0	0	0	1	0	0	10360	711	25	2	3879	2	NFAT5	16	69727557	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	326455	69727557	20627196	6813	30764											
PDPR	55066	broad.mit.edu	37	chr16	70154527	70154527	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctgcccacccaggcacaGgtggtcatctgtggaggtgg	15	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:70154527G>T	uc002eyf.1	+	3	1089	c.132G>T	c.(130-132)CAG>CAT	p.Q44H	CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Intron	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory	44					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.124)		CCCAGGCACAGGTGGTCATCT	0.577													T	70154527	G	T	70154527	3	4	27	1	0	0	0	0	1	0	0	0	11689	991	35	5	134	5	PDPR	16	70154527	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	426970	70154527	20200226	6814	30765											
AARS	16	broad.mit.edu	37	chr16	70286780	70286780	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacctgctgcacccactcGctggcttttaagccccgatt	8	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:70286780G>A	uc002eyn.1	-	21	2861	c.2751C>T	c.(2749-2751)AGC>AGT	p.S917S	EXOSC6_uc002eym.1_5'Flank|AARS_uc010vlu.1_Silent_p.S763S	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	917					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GCACCCACTCGCTGGCTTTTA	0.562											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	70286780	G	A	70286780	2	1	27	1	0	0	0	0	0	0	0	1	19	1078	38	1		1	AARS	16	70286780	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	132253	70286780	20067973	6815	30766											
AARS	16	broad.mit.edu	37	chr16	70302259	70302259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgtatcggacagctcggCggagaatccgtctcaacaca	13	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:70302259C>T	uc002eyn.1	-	8	1096	c.986G>A	c.(985-987)CGC>CAC	p.R329H	AARS_uc010vlu.1_Missense_Mutation_p.R159H	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	329			R -> H (in CMT2N).		alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GACAGCTCGGCGGAGAATCCG	0.502													T	70302259	C	T	70302259	3	4	27	1	0	0	0	0	1	0	0	0	19	768	27	1	1976	1	AARS	16	70302259	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	15479	70302259	20052494	6816	30767											
AARS	16	broad.mit.edu	37	chr16	70304204	70304204	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcccatccctgtgtcaatGcttttcttgggaagaggttt	11	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:70304204G>A	uc002eyn.1	-	6	821	c.711C>T	c.(709-711)AGC>AGT	p.S237S	AARS_uc010vlu.1_Silent_p.S67S	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	237					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	CTGTGTCAATGCTTTTCTTGG	0.483													A	70304204	G	A	70304204	2	1	27	1	0	0	0	0	0	0	0	1	19	1310	46	2		2	AARS	16	70304204	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1945	70304204	20050549	6817	30768											
DDX19A	55308	broad.mit.edu	37	chr16	70350004	70350004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtcttttgaagagcttcGgctgtgagtatttattcacc	10	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:70350004G>A	uc002eys.2	+	4	422	c.293G>A	c.(292-294)CGG>CAG	p.R98Q	DDX19B_uc010vly.1_Missense_Mutation_p.R98Q|DDX19B_uc010vlv.1_Missense_Mutation_p.R103Q|DDX19B_uc010vlw.1_5'UTR|DDX19B_uc002eyo.2_Missense_Mutation_p.R98Q|DDX19B_uc002eyp.2_Missense_Mutation_p.R98Q|DDX19B_uc002eyq.2_5'UTR|DDX19B_uc002eyr.2_5'UTR|DDX19B_uc010vlx.1_5'UTR|uc002eyt.2_RNA	NM_007242	NP_009173	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform	97	Q motif.				mRNA transport|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding				0		Ovarian(137;0.221)				GAAGAGCTTCGGCTGTGAGTA	0.438													A	70350004	G	A	70350004	3	1	27	1	0	0	0	0	1	0	0	0	4346	1116	39	1		1	DDX19A	16	70350004	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	45800	70350004	20004749	6818	30769											
ST3GAL2	6483	broad.mit.edu	37	chr16	70429011	70429011	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcggtaggggttctcgccaGgcactatctggaacagcttc	13	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:70429011G>T	uc002eyw.2	-	2	2515	c.407C>A	c.(406-408)CCT>CAT	p.P136H	ST3GAL2_uc002eyx.2_Missense_Mutation_p.P136H	NM_006927	NP_008858	Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	136	Lumenal (Potential).				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			ovary(1)	1		Ovarian(137;0.0694)				GTTCTCGCCAGGCACTATCTG	0.627													T	70429011	G	T	70429011	3	4	27	1	0	0	0	0	1	0	0	0	15214	1000	35	5	665	5	ST3GAL2	16	70429011	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	79007	70429011	19925742	6819	30770											
FUK	197258	broad.mit.edu	37	chr16	70503129	70503129	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacttcctggtggggaggccCccagagttggggcaaggcga	18	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:70503129C>G	uc002eyy.2	+	10	916	c.858C>G	c.(856-858)CCC>CCG	p.P286P	FUK_uc010cft.2_Silent_p.P318P|FUK_uc002eyz.2_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	286						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)				TGGGGAGGCCCCCAGAGTTGG	0.602													G	70503129	C	G	70503129	2	3	27	1	0	0	0	0	0	0	0	1	6096	610	22	5		5	FUK	16	70503129	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	74118	70503129	19851624	6820	30771											
SF3B3	23450	broad.mit.edu	37	chr16	70588357	70588357	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttctttttcagatgagtttGatgcctacatcattgtgtct	7	7	4	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:70588357G>A	uc002ezf.2	+	12	1622	c.1411G>A	c.(1411-1413)GAT>AAT	p.D471N		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	471					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				AGATGAGTTTGATGCCTACAT	0.423													A	70588357	G	A	70588357	3	1	27	1	0	0	0	0	1	0	0	0	14152	1290	45	4	1453	4	SF3B3	16	70588357	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	85228	70588357	19766396	6821	30772											
SF3B3	23450	broad.mit.edu	37	chr16	70590845	70590845	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccagcctgagtccttgtgTatcgtggaaatgggtgggac	15	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:70590845T>C	uc002ezf.2	+	15	2134	c.1923T>C	c.(1921-1923)TGT>TGC	p.C641C		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	641					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				AGTCCTTGTGTATCGTGGAAA	0.488													C	70590845	T	C	70590845	2	2	27	1	0	0	0	0	0	0	0	1	14152	1644	57	3		3	SF3B3	16	70590845	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2488	70590845	19763908	6822	30773											
SF3B3	23450	broad.mit.edu	37	chr16	70599416	70599416	+	Frame_Shift_Del	DEL	T	T	-													acaatggggaaaaactggagTttttgcacaaggtaggaatc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:70599415_70599415GT>G	uc002ezf.3	+	19	3025	c.2814_2814GT>G	c.(2812-2814)gagfs	p.E938fs		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	938					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AAAAACTGGAGTTTTTGCACA	0.463													-	70599416	T	-	70599416	7	5	27	1	0	1	0	1	0	0	0	0	14152	1725	60	0	2889	0	SF3B3	16	70599416	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	8571	70599416	19755337	6823	30774											
HYDIN	54768	broad.mit.edu	37	chr16	70871608	70871608	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttaccttcattttggtaccCttccctttgatttcgactgt	6	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:70871608C>A	uc002ezr.2	-	77	13352	c.13224G>T	c.(13222-13224)AAG>AAT	p.K4408N	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4409										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TTTTGGTACCCTTCCCTTTGA	0.463													A	70871608	C	A	70871608	3	1	27	1	0	0	0	0	1	0	0	0	7467	680	24	5	2178	5	HYDIN	16	70871608	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	272192	70871608	19483145	6824	30775											
HYDIN	54768	broad.mit.edu	37	chr16	70917850	70917850	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggcttcagctagcaaagTgtaaagaatgccggcagggt	13	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:70917850T>C	uc002ezr.2	-	59	10077	c.9949A>G	c.(9949-9951)ACT>GCT	p.T3317A		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3318										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				GCTAGCAAAGTGTAAAGAATG	0.458													C	70917850	T	C	70917850	3	2	27	1	0	0	0	0	1	0	0	0	7467	1696	59	3	5525	3	HYDIN	16	70917850	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	46242	70917850	19436903	6825	30776											
HYDIN	54768	broad.mit.edu	37	chr16	70986455	70986455	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatttctggggccaccagagTcatctcggaggctaacttgc	11	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:70986455T>A	uc002ezr.2	-	41	6525	c.6397A>T	c.(6397-6399)ACT>TCT	p.T2133S		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2134										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				GCCACCAGAGTCATCTCGGAG	0.552													A	70986455	T	A	70986455	3	1	27	1	0	0	0	0	1	0	0	0	7467	1667	58	5	9149	5	HYDIN	16	70986455	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	68605	70986455	19368298	6826	30777											
HYDIN	54768	broad.mit.edu	37	chr16	71218785	71218785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taccttctgatgtgttgtttCccccatatctaagagttcga	7	10	2	2	rs148583032		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:71218785C>T	uc002ezr.2	-	3	372	c.244G>A	c.(244-246)GAA>AAA	p.E82K	HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Missense_Mutation_p.E82K|HYDIN_uc010vmc.1_Missense_Mutation_p.E99K|HYDIN_uc010vmd.1_Missense_Mutation_p.E109K|HYDIN_uc002ezw.3_Missense_Mutation_p.E99K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	82								p.E82K(2)		ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TGTGTTGTTTCCCCCATATCT	0.448													T	71218785	C	T	71218785	3	4	27	1	0	0	0	0	1	0	0	0	7467	864	30	4	15466	4	HYDIN	16	71218785	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	232330	71218785	19135968	6827	30778											
ZNF19	7567	broad.mit.edu	37	chr16	71512907	71512907	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcctcgaaggtcaccatcTcctaaaacaacaggttcctg	6	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:71512907T>G	uc010cgc.1	-	4	541	c.35A>C	c.(34-36)GAG>GCG	p.E12A	ZNF23_uc002fai.2_5'UTR|ZNF19_uc002fak.1_5'UTR|ZNF19_uc002fal.1_5'UTR|ZNF19_uc002fam.1_Missense_Mutation_p.E12A	NM_006961	NP_008892	P17023	ZNF19_HUMAN	zinc finger protein 19	12						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		GGTCACCATCTCCTAAAACAA	0.572													G	71512907	T	G	71512907	3	3	27	1	0	0	0	0	1	0	0	0	17752	1565	54	5	1353	5	ZNF19	16	71512907	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	294122	71512907	18841846	6828	30779											
TAT	6898	broad.mit.edu	37	chr16	71605530	71605530	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtctccatagatctcatcAgctaagatggggacacactg	9	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:71605530A>G	uc002fap.2	-	7	837	c.738T>C	c.(736-738)GCT>GCC	p.A246A		NM_000353	NP_000344	P17735	ATTY_HUMAN	tyrosine aminotransferase	246					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(2)	2		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	AGATCTCATCAGCTAAGATGG	0.353													G	71605530	A	G	71605530	2	3	27	1	0	0	0	0	0	0	0	1	15587	175	7	3		3	TAT	16	71605530	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	92623	71605530	18749223	6829	30780											
MARVELD3	91862	broad.mit.edu	37	chr16	71663380	71663380	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgccacaaatgcaaatActtgtgcactgggagaggtg	13	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:71663380A>G	uc002fat.2	+	2	641	c.578A>G	c.(577-579)TAC>TGC	p.Y193C	MARVELD3_uc002fas.1_Missense_Mutation_p.Y193C|MARVELD3_uc002fau.2_Missense_Mutation_p.Y193C|MARVELD3_uc010cge.2_Missense_Mutation_p.T139A	NM_052858	NP_443090	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 2	193	MARVEL.|Cytoplasmic (Potential).					integral to membrane				skin(1)	1		Ovarian(137;0.125)				AAATGCAAATACTTGTGCACT	0.517													G	71663380	A	G	71663380	3	3	27	1	0	0	0	0	1	0	0	0	9319	391	14	3	584	3	MARVELD3	16	71663380	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	57850	71663380	18691373	6830	30781											
PHLPP2	23035	broad.mit.edu	37	chr16	71683225	71683225	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctatgagagggggtgagttCtccagatccctccccctgca	11	13	2	3	rs148712567	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:71683225C>T	uc002fax.2	-	18	3546	c.3540G>A	c.(3538-3540)GAG>GAA	p.E1180E	PHLPP2_uc002fav.2_Intron|PHLPP2_uc010cgf.2_Silent_p.E1113E	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	1180						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						GGGGTGAGTTCTCCAGATCCC	0.527													T	71683225	C	T	71683225	2	4	27	1	0	0	0	0	0	0	0	1	11855	912	32	4		4	PHLPP2	16	71683225	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	19845	71683225	18671528	6831	30782											
HPR	3250	broad.mit.edu	37	chr16	72110871	72110871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaggacacctggtacgCggctgggatcctaagctttg	16	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:72110871C>T	uc002fby.2	+	5	968	c.938C>T	c.(937-939)GCG>GTG	p.A313V	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	haptoglobin-related protein precursor	313	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)	1		Ovarian(137;0.125)				ACCTGGTACGCGGCTGGGATC	0.542													T	72110871	C	T	72110871	3	4	27	1	0	0	0	0	1	0	0	0	7337	768	27	1	956	1	HPR	16	72110871	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	427646	72110871	18243882	6832	30783											
DHX38	9785	broad.mit.edu	37	chr16	72131586	72131586	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcatagatgagcgggaTagaagtaggcacagcagcag	13	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:72131586T>C	uc002fcb.2	+	4	877	c.522T>C	c.(520-522)GAT>GAC	p.D174D	DHX38_uc010vmp.1_Intron|DHX38_uc010cgn.1_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	174					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)				ATGAGCGGGATAGAAGTAGGC	0.502													C	72131586	T	C	72131586	2	2	27	1	0	0	0	0	0	0	0	1	4511	1403	49	3		3	DHX38	16	72131586	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	20715	72131586	18223167	6833	30784											
PMFBP1	83449	broad.mit.edu	37	chr16	72153953	72153953	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttcagcttcttgtttTcctgctgcaagtggaccatt	7	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:72153953T>C	uc002fcc.3	-	20	2991	c.2819A>G	c.(2818-2820)GAA>GGA	p.E940G	PMFBP1_uc002fcd.2_Missense_Mutation_p.E935G|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.E810G	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	940	Potential.									ovary(2)	2		Ovarian(137;0.179)				CTTCTTGTTTTCCTGCTGCAA	0.537													C	72153953	T	C	72153953	3	2	27	1	0	0	0	0	1	0	0	0	12134	1783	62	3	227	3	PMFBP1	16	72153953	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	22367	72153953	18200800	6834	30785											
ZFHX3	463	broad.mit.edu	37	chr16	72821778	72821778	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctggcacttgcggcagAccaacttgtactgcaccttt	9	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:72821778A>G	uc002fck.2	-	10	11070	c.10397T>C	c.(10396-10398)GTC>GCC	p.V3466A	ZFHX3_uc002fcl.2_Missense_Mutation_p.V2552A	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3466					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				CTTGCGGCAGACCAACTTGTA	0.587													G	72821778	A	G	72821778	3	3	27	1	0	0	0	0	1	0	0	0	17631	275	10	3	718	3	ZFHX3	16	72821778	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	667825	72821778	17532975	6835	30786											
ZFHX3	463	broad.mit.edu	37	chr16	72828653	72828653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgatggttgttctcaaaCgcttgtctctctgaggctct	11	9	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:72828653C>T	uc002fck.2	-	9	8601	c.7928G>A	c.(7927-7929)CGT>CAT	p.R2643H	ZFHX3_uc002fcl.2_Missense_Mutation_p.R1729H	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	2643	Homeobox 3.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				TGTTCTCAAACGCTTGTCTCT	0.483													T	72828653	C	T	72828653	3	4	27	1	0	0	0	0	1	0	0	0	17631	536	19	1	3191	1	ZFHX3	16	72828653	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6875	72828653	17526100	6836	30787											
ZFHX3	463	broad.mit.edu	37	chr16	72830751	72830751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagcagggccttggtggCgttccctctggcatctgaag	13	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:72830751C>T	uc002fck.2	-	9	6503	c.5830G>A	c.(5830-5832)GCC>ACC	p.A1944T	ZFHX3_uc002fcl.2_Missense_Mutation_p.A1030T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1944					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GCCTTGGTGGCGTTCCCTCTG	0.522													T	72830751	C	T	72830751	3	4	27	1	0	0	0	0	1	0	0	0	17631	768	27	1	5289	1	ZFHX3	16	72830751	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2098	72830751	17524002	6837	30788											
ZFHX3	463	broad.mit.edu	37	chr16	72831787	72831787	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggccacattacaagtgttAcacttaaaaggtttgttgtc	8	7	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:72831787A>G	uc002fck.2	-	9	5467	c.4794T>C	c.(4792-4794)TGT>TGC	p.C1598C	ZFHX3_uc002fcl.2_Silent_p.C684C	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1598	C2H2-type 16.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				TACAAGTGTTACACTTAAAAG	0.507													G	72831787	A	G	72831787	2	3	27	1	0	0	0	0	0	0	0	1	17631	389	14	3		3	ZFHX3	16	72831787	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1036	72831787	17522966	6838	30789											
ZFHX3	463	broad.mit.edu	37	chr16	72832395	72832395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggtacttgtacacatggcGatctgacaccggcagctgag	13	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:72832395G>A	uc002fck.2	-	9	4859	c.4186C>T	c.(4186-4188)CGC>TGC	p.R1396C	ZFHX3_uc002fcl.2_Missense_Mutation_p.R482C	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1396					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				TACACATGGCGATCTGACACC	0.502													A	72832395	G	A	72832395	3	1	27	1	0	0	0	0	1	0	0	0	17631	1058	37	1	6933	1	ZFHX3	16	72832395	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	608	72832395	17522358	6839	30790											
ZFHX3	463	broad.mit.edu	37	chr16	72993166	72993166	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggtcacaaacgaacggacGtacccaaaggagagtttgca	12	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:72993166G>T	uc002fck.2	-	2	1552	c.879C>A	c.(877-879)TAC>TAA	p.Y293*	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	293	C2H2-type 1.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				ACGAACGGACGTACCCAAAGG	0.493													T	72993166	G	T	72993166	4	4	27	1	0	0	0	0	0	1	0	0	17631	1140	40	5	10268	5	ZFHX3	16	72993166	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	160771	72993166	17361587	6840	30791											
PSMD7	5713	broad.mit.edu	37	chr16	74334090	74334090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagaaagtacttgatgtatCgaacagttttgcaggtaaaa	9	4	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:74334090C>T	uc002fcq.2	+	2	284	c.152C>T	c.(151-153)TCG>TTG	p.S51L	PSMD7_uc010vmr.1_5'UTR	NM_002811	NP_002802	P51665	PSD7_HUMAN	proteasome 26S non-ATPase subunit 7	51	MPN.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding				0						CTTGATGTATCGAACAGTTTT	0.368													T	74334090	C	T	74334090	3	4	27	1	0	0	0	0	1	0	0	0	12703	893	31	1	158	1	PSMD7	16	74334090	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1340924	74334090	16020663	6841	30792											
GLG1	2734	broad.mit.edu	37	chr16	74503938	74503938	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccttgcaggccattttaaActtgtaagaaaaccgaaaat	6	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:74503938A>G	uc002fcy.3	-	16	2313	c.2263T>C	c.(2263-2265)TTT>CTT	p.F755L	GLG1_uc002fcx.2_Missense_Mutation_p.F755L|GLG1_uc002fcw.3_Missense_Mutation_p.F744L|GLG1_uc002fcz.3_Missense_Mutation_p.F172L	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	755	Cys-rich GLG1 11.|Extracellular (Potential).					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2						GCCATTTTAAACTTGTAAGAA	0.418													G	74503938	A	G	74503938	3	3	27	1	0	0	0	0	1	0	0	0	6436	43	2	3	1400	3	GLG1	16	74503938	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	169848	74503938	15850815	6842	30793											
MLKL	197259	broad.mit.edu	37	chr16	74729205	74729205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccagcttgcctcttcttaGcatctggaaagctcgcctgt	8	14	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:74729205G>A	uc002fdb.2	-	2	892	c.451C>T	c.(451-453)CTA>TTA	p.L151L	MLKL_uc002fdc.2_Silent_p.L151L	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like isoform 1	151							ATP binding|protein binding|protein kinase activity			stomach(2)	2						CCTCTTCTTAGCATCTGGAAA	0.498													A	74729205	G	A	74729205	2	1	27	1	0	0	0	0	0	0	0	1	9619	962	34	2		2	MLKL	16	74729205	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	225267	74729205	15625548	6843	30794											
CHST5	23563	broad.mit.edu	37	chr16	75563832	75563832	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcgggcggcgagcacaGcgcgcggctcgttgcccagt	18	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:75563832G>A	uc002fei.2	-	3	1846	c.451C>T	c.(451-453)CTG>TTG	p.L151L	CHST5_uc002fej.1_Silent_p.L157L	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	151	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GGCGAGCACAGCGCGCGGCTC	0.612													A	75563832	G	A	75563832	2	1	27	1	0	0	0	0	0	0	0	1	3407	962	34	2		2	CHST5	16	75563832	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	834627	75563832	14790921	6844	30795											
KARS	3735	broad.mit.edu	37	chr16	75675553	75675553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggcttagctgtttctcaCtgagctctttctgtttggcc	9	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:75675553C>T	uc002feq.2	-	2	179	c.131G>A	c.(130-132)AGT>AAT	p.S44N	KARS_uc002fer.2_Missense_Mutation_p.S72N|KARS_uc002fes.2_Translation_Start_Site|KARS_uc010cgz.2_5'Flank|KARS_uc010cha.1_Missense_Mutation_p.S81N	NM_005548	NP_005539	Q15046	SYK_HUMAN	lysyl-tRNA synthetase isoform 2	44				Missing: Loss of nuclear localization, but no effect on packaging into HIV-1.	interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			ovary(2)	2					L-Lysine(DB00123)	CTGTTTCTCACTGAGCTCTTT	0.498													T	75675553	C	T	75675553	3	4	27	1	0	0	0	0	1	0	0	0	7980	565	20	4	1714	4	KARS	16	75675553	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	111721	75675553	14679200	6845	30796											
TERF2IP	54386	broad.mit.edu	37	chr16	75690259	75690259	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggagctgccattaagaTcattcggcagttaatggaga	14	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:75690259T>C	uc002fet.1	+	3	1047	c.950T>C	c.(949-951)ATC>ACC	p.I317T		NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting	317					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1						GCCATTAAGATCATTCGGCAG	0.398													C	75690259	T	C	75690259	3	2	27	1	0	0	0	0	1	0	0	0	15760	1435	50	3	960	3	TERF2IP	16	75690259	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	14706	75690259	14664494	6846	30797											
MON1B	22879	broad.mit.edu	37	chr16	77227572	77227572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcaagcccatctactcgCggtatggtagtgtggaggcg	15	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:77227572C>T	uc002fez.2	+	3	703	c.373C>T	c.(373-375)CGG>TGG	p.R125W	MON1B_uc010vnf.1_Intron|MON1B_uc010vng.1_Intron|MON1B_uc002ffa.2_5'Flank	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	MON1 homolog B	125							protein binding				0						CATCTACTCGCGGTATGGTAG	0.617													T	77227572	C	T	77227572	3	4	27	1	0	0	0	0	1	0	0	0	9699	759	27	1	379	1	MON1B	16	77227572	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1537313	77227572	13127181	6847	30798											
MON1B	22879	broad.mit.edu	37	chr16	77228320	77228320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcagcccagctgcggggGgagctgctagctgtgcacgc	16	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:77228320G>A	uc002fez.2	+	4	894	c.564G>A	c.(562-564)GGG>GGA	p.G188G	MON1B_uc010vnf.1_Silent_p.G79G|MON1B_uc010vng.1_Silent_p.G42G|MON1B_uc002ffa.2_Silent_p.G68G	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	MON1 homolog B	188							protein binding				0						AGCTGCGGGGGGAGCTGCTAG	0.597													A	77228320	G	A	77228320	2	1	27	1	0	0	0	0	0	0	0	1	9699	1219	43	4		4	MON1B	16	77228320	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	748	77228320	13126433	6848	30799											
MON1B	22879	broad.mit.edu	37	chr16	77228534	77228534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcccgcccgctgcgagacGcactaggtgcgctcctccga	12	17	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:77228534G>A	uc002fez.2	+	4	1108	c.778G>A	c.(778-780)GCA>ACA	p.A260T	MON1B_uc010vnf.1_Missense_Mutation_p.A151T|MON1B_uc010vng.1_Missense_Mutation_p.A114T|MON1B_uc002ffa.2_Missense_Mutation_p.A140T	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	MON1 homolog B	260							protein binding				0						GCTGCGAGACGCACTAGGTGC	0.657													A	77228534	G	A	77228534	3	1	27	1	0	0	0	0	1	0	0	0	9699	1087	38	1	788	1	MON1B	16	77228534	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	214	77228534	13126219	6849	30800											
ADAMTS18	170692	broad.mit.edu	37	chr16	77369677	77369677	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttattgcagtgtctctccTggaacttgactcctccacca	8	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:77369677T>C	uc002ffc.3	-	12	2254	c.1835A>G	c.(1834-1836)CAG>CGG	p.Q612R	ADAMTS18_uc010chc.1_Missense_Mutation_p.Q200R|ADAMTS18_uc002ffe.1_Missense_Mutation_p.Q308R	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	612	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						GTGTCTCTCCTGGAACTTGAC	0.542													C	77369677	T	C	77369677	3	2	27	1	0	0	0	0	1	0	0	0	263	1580	55	3	1878	3	ADAMTS18	16	77369677	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	141143	77369677	12985076	6850	30801											
ADAMTS18	170692	broad.mit.edu	37	chr16	77401590	77401590	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggtaatggcgagatgaggaAttcattttttcgtgtcctta	11	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:77401590A>T	uc002ffc.3	-	4	945	c.526T>A	c.(526-528)TTC>ATC	p.F176I	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	176					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						GAGATGAGGAATTCATTTTTT	0.468													T	77401590	A	T	77401590	3	4	27	1	0	0	0	0	1	0	0	0	263	101	4	5	3219	5	ADAMTS18	16	77401590	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	31913	77401590	12953163	6851	30802											
WWOX	51741	broad.mit.edu	37	chr16	78466602	78466602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattcatcgcagctggtggGtgtacacactgctgtttacc	10	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:78466602G>A	uc002ffk.2	+	8	1134	c.1009G>A	c.(1009-1011)GTG>ATG	p.V337M	WWOX_uc010vnk.1_Missense_Mutation_p.V224M|WWOX_uc002ffl.2_Intron|WWOX_uc010che.2_Intron	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	WW domain-containing oxidoreductase isoform 1	337	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity				0		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CAGCTGGTGGGTGTACACACT	0.562													A	78466602	G	A	78466602	3	1	27	1	0	0	0	0	1	0	0	0	17411	1261	44	4	1101	4	WWOX	16	78466602	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1065012	78466602	11888151	6852	30803											
CDYL2	124359	broad.mit.edu	37	chr16	80718775	80718775	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctttccaggatctgaaggTctgtgggacagtttctcaac	10	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:80718775T>C	uc002ffs.2	-	2	381	c.276A>G	c.(274-276)AGA>AGG	p.R92R		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	92						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						GATCTGAAGGTCTGTGGGACA	0.537													C	80718775	T	C	80718775	2	2	27	1	0	0	0	0	0	0	0	1	3186	1664	58	3		3	CDYL2	16	80718775	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2252173	80718775	9635978	6853	30804											
ATMIN	23300	broad.mit.edu	37	chr16	81077197	81077197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgctctcttaaggagaGcctacctcttttcaaaattg	8	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:81077197G>A	uc002ffz.1	+	4	1112	c.1094G>A	c.(1093-1095)AGC>AAC	p.S365N	ATMIN_uc002fga.2_Missense_Mutation_p.S207N|ATMIN_uc010vnn.1_Missense_Mutation_p.S136N|ATMIN_uc002fgb.1_Missense_Mutation_p.S207N	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	365	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding				0						CTTAAGGAGAGCCTACCTCTT	0.458													A	81077197	G	A	81077197	3	1	27	1	0	0	0	0	1	0	0	0	1110	971	34	2	1108	2	ATMIN	16	81077197	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	358422	81077197	9277556	6854	30805											
C16orf46	123775	broad.mit.edu	37	chr16	81097360	81097360	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatactcactgcctcttcCcatccagttccaataataaa	3	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:81097360C>T	uc002fgc.3	-	3	460	c.201G>A	c.(199-201)TGG>TGA	p.W67*	C16orf46_uc010chf.2_Nonsense_Mutation_p.W67*|C16orf46_uc010vno.1_Intron	NM_152337	NP_689550	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46 isoform 2	67											0						CTGCCTCTTCCCATCCAGTTC	0.373													T	81097360	C	T	81097360	4	4	27	1	0	0	0	0	0	1	0	0	1815	624	22	4	1022	4	C16orf46	16	81097360	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	20163	81097360	9257393	6855	30806											
PKD1L2	114780	broad.mit.edu	37	chr16	81211477	81211477	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcgttgcagaagatggcaAagctcgtcagaacggtgccc	14	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:81211477A>G	uc002fgh.1	-	14	2372	c.2372T>C	c.(2371-2373)TTT>TCT	p.F791S	PKD1L2_uc002fgg.1_RNA|PKD1L2_uc002fgi.2_Missense_Mutation_p.F106S|PKD1L2_uc002fgj.2_Missense_Mutation_p.F791S|PKD1L2_uc002fgk.1_5'UTR|PKD1L2_uc002fgl.1_Intron	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	791	REJ.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GAAGATGGCAAAGCTCGTCAG	0.597													G	81211477	A	G	81211477	3	3	27	1	0	0	0	0	1	0	0	0	11965	14	1	3	5196	3	PKD1L2	16	81211477	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	114117	81211477	9143276	6856	30807											
CMIP	80790	broad.mit.edu	37	chr16	81733378	81733378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtccctgcatgctcctggCactgagggggaaccagacca	14	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:81733378C>T	uc002fgp.2	+	15	1799	c.1727C>T	c.(1726-1728)GCA>GTA	p.A576V	CMIP_uc002fgq.1_Missense_Mutation_p.A482V|CMIP_uc010vnq.1_Missense_Mutation_p.A389V|CMIP_uc002fgr.1_Missense_Mutation_p.A423V	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	542						cytoplasm|nucleus					0						ATGCTCCTGGCACTGAGGGGG	0.597													T	81733378	C	T	81733378	3	4	27	1	0	0	0	0	1	0	0	0	3578	710	25	2	1807	2	CMIP	16	81733378	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	521901	81733378	8621375	6857	30808											
PLCG2	5336	broad.mit.edu	37	chr16	81891910	81891910	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taactggctctctggcttgaAaatcttacaccaggaagcga	9	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:81891910A>G	uc002fgt.2	+	4	532	c.380A>G	c.(379-381)AAA>AGA	p.K127R	PLCG2_uc010chg.1_Missense_Mutation_p.K127R	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	127	PH.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						TCTGGCTTGAAAATCTTACAC	0.463													G	81891910	A	G	81891910	3	3	27	1	0	0	0	0	1	0	0	0	12036	14	1	3	390	3	PLCG2	16	81891910	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	158532	81891910	8462843	6858	30809											
CDH13	1012	broad.mit.edu	37	chr16	83704437	83704437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctgtgggagttattgtcAatttgacagttgaagataag	13	3	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:83704437A>G	uc002fgx.2	+	9	1264	c.1144A>G	c.(1144-1146)AAT>GAT	p.N382D	CDH13_uc010vns.1_Missense_Mutation_p.N429D|CDH13_uc010vnt.1_Missense_Mutation_p.N128D|CDH13_uc010vnu.1_Missense_Mutation_p.N343D	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	382	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AGTTATTGTCAATTTGACAGT	0.463													G	83704437	A	G	83704437	3	3	27	1	0	0	0	0	1	0	0	0	3099	130	5	3	1178	3	CDH13	16	83704437	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1812527	83704437	6650316	6859	30810											
MLYCD	23417	broad.mit.edu	37	chr16	83948723	83948723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggagatcacaggtggccccAttaacgagaccctcaagctc	10	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:83948723A>G	uc002fgz.2	+	5	1131	c.1111A>G	c.(1111-1113)ATT>GTT	p.I371V		NM_012213	NP_036345	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase precursor	371					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity				0						AGGTGGCCCCATTAACGAGAC	0.572													G	83948723	A	G	83948723	3	3	27	1	0	0	0	0	1	0	0	0	9638	217	8	3	1129	3	MLYCD	16	83948723	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	244286	83948723	6406030	6860	30811											
OSGIN1	29948	broad.mit.edu	37	chr16	83998695	83998695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacagccgggccactgccGgggacatcgcccactactac	11	17	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:83998695G>A	uc002fha.2	+	7	1149	c.766G>A	c.(766-768)GGG>AGG	p.G256R	OSGIN1_uc002fhb.2_Missense_Mutation_p.G173R|OSGIN1_uc002fhc.2_Missense_Mutation_p.G173R	NM_013370	NP_037502	Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	256					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity				0						GGCCACTGCCGGGGACATCGC	0.627													A	83998695	G	A	83998695	3	1	27	1	0	0	0	0	1	0	0	0	11289	1116	39	1	792	1	OSGIN1	16	83998695	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	49972	83998695	6356058	6861	30812											
SLC38A8	146167	broad.mit.edu	37	chr16	84050247	84050247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatggtcagcggcatccGgacccacagccctgaggggt	15	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:84050247G>A	uc002fhg.1	-	8	1039	c.1039C>T	c.(1039-1041)CGG>TGG	p.R347W		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	347					amino acid transport|sodium ion transport	integral to membrane					0						AGCGGCATCCGGACCCACAGC	0.652													A	84050247	G	A	84050247	3	1	27	1	0	0	0	0	1	0	0	0	14610	1115	39	1	280	1	SLC38A8	16	84050247	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	51552	84050247	6304506	6862	30813											
MBTPS1	8720	broad.mit.edu	37	chr16	84101321	84101321	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcataacagaagtgttgtAccagtcactgaagatgacga	9	8	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:84101321A>G	uc002fhi.2	-	16	2681	c.2179T>C	c.(2179-2181)TAC>CAC	p.Y727H	MBTPS1_uc002fhh.2_Missense_Mutation_p.Y231H	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	727	Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2						GAAGTGTTGTACCAGTCACTG	0.458													G	84101321	A	G	84101321	3	3	27	1	0	0	0	0	1	0	0	0	9361	391	14	3	1011	3	MBTPS1	16	84101321	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	51074	84101321	6253432	6863	30814											
MBTPS1	8720	broad.mit.edu	37	chr16	84103626	84103626	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctttactgttgaagtctgTtctgcaccattttttgacta	7	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:84103626T>C	uc002fhi.2	-	14	2302	c.1800A>G	c.(1798-1800)GAA>GAG	p.E600E	MBTPS1_uc002fhh.2_Silent_p.E104E	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	600	Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2						TTGAAGTCTGTTCTGCACCAT	0.398													C	84103626	T	C	84103626	2	2	27	1	0	0	0	0	0	0	0	1	9361	1722	60	3		3	MBTPS1	16	84103626	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2305	84103626	6251127	6864	30815											
TAF1C	9013	broad.mit.edu	37	chr16	84213651	84213652	+	Frame_Shift_Ins	INS	-	-	G													atcctggaaggaagagactgINSgggggggcctgccaggcggg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:84213650_84213651T>TG	uc002fhn.3	-	12	1842_1843	c.1600_1601A>CA	c.(1600-1602)cagfs	p.Q534fs	TAF1C_uc010vnz.2_Frame_Shift_Ins_p.Q202fs|TAF1C_uc002fho.3_Frame_Shift_Ins_p.Q57fs|TAF1C_uc010voa.2_Frame_Shift_Ins_p.Q202fs|TAF1C_uc002fhm.3_Frame_Shift_Ins_p.Q440fs|TAF1C_uc010vnx.2_Frame_Shift_Ins_p.Q508fs|TAF1C_uc010vny.2_Frame_Shift_Ins_p.Q125fs	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	534					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	p.Q534fs*19(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						AGGAAGAGACTGGGGGGGGCCT	0.663													G	84213652	-	G	84213651	7	5	27	1	0	1	1	0	0	0	0	0	15518	1357	47	0	1017	0	TAF1C	16	84213651	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	110025	84213651	6141102	6865	30816											
TAF1C	9013	broad.mit.edu	37	chr16	84214743	84214743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacgttcccctttctggcacGaagcctctgcccccaaacga	7	18	2	0	rs78476640	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:84214743G>A	uc002fhn.2	-	11	1520	c.1292C>T	c.(1291-1293)TCG>TTG	p.S431L	TAF1C_uc002fhm.2_Missense_Mutation_p.S338L|TAF1C_uc010vnx.1_Missense_Mutation_p.S405L|TAF1C_uc010vny.1_Missense_Mutation_p.S22L|TAF1C_uc010vnz.1_Missense_Mutation_p.S99L|TAF1C_uc002fho.2_Intron|TAF1C_uc010voa.1_Missense_Mutation_p.S99L|TAF1C_uc002fhp.1_Intron	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	431					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			ovary(1)	1						TTTCTGGCACGAAGCCTCTGC	0.612													A	84214743	G	A	84214743	3	1	27	1	0	0	0	0	1	0	0	0	15518	1059	37	1	1333	1	TAF1C	16	84214743	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1092	84214743	6140010	6866	30817											
WFDC1	58189	broad.mit.edu	37	chr16	84351925	84351925	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcgatggcttggtggcaatGgctggctcctggatggccct	15	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:84351925G>T	uc002fhw.2	+	3	562	c.385G>T	c.(385-387)GGC>TGC	p.G129C	WFDC1_uc002fhv.2_Missense_Mutation_p.G129C	NM_021197	NP_067020	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1 precursor	129					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)	1						TGGTGGCAATGGCTGGCTCCT	0.582													T	84351925	G	T	84351925	3	4	27	1	0	0	0	0	1	0	0	0	17343	1348	47	5	395	5	WFDC1	16	84351925	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	137182	84351925	6002828	6867	30818											
ATP2C2	9914	broad.mit.edu	37	chr16	84474490	84474490	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagttgggtatgacggtcaaGggactgtgtgtcttctacca	14	7	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:84474490G>T	uc002fhx.2	+	14	1326	c.1237G>T	c.(1237-1239)GGG>TGG	p.G413W	ATP2C2_uc010chj.2_Missense_Mutation_p.G413W|ATP2C2_uc002fhy.2_Missense_Mutation_p.G430W|ATP2C2_uc002fhz.2_Missense_Mutation_p.G262W	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	413	Extracellular (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2						TGACGGTCAAGGGACTGTGTG	0.403													T	84474490	G	T	84474490	3	4	27	1	0	0	0	0	1	0	0	0	1144	1000	35	5	1291	5	ATP2C2	16	84474490	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	122565	84474490	5880263	6868	30819											
ATP2C2	9914	broad.mit.edu	37	chr16	84492794	84492794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccgattccagctgagcaCgtaagtagaggccagcattc	11	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:84492794C>T	uc002fhx.2	+	22	2305	c.2216C>T	c.(2215-2217)ACG>ATG	p.T739M	ATP2C2_uc010chj.2_Missense_Mutation_p.T739M|ATP2C2_uc002fhy.2_Missense_Mutation_p.T756M|ATP2C2_uc002fhz.2_Missense_Mutation_p.T588M|ATP2C2_uc002fia.2_5'Flank	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	739	Extracellular (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2						CAGCTGAGCACGTAAGTAGAG	0.552													T	84492794	C	T	84492794	3	4	27	1	0	0	0	0	1	0	0	0	1144	550	19	1	2302	1	ATP2C2	16	84492794	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	18304	84492794	5861959	6869	30820											
ZDHHC7	55625	broad.mit.edu	37	chr16	85024046	85024046	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtcaccacgaagtctgcaTaggcgaccagaagccacgtc	10	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:85024046T>C	uc002fiq.2	-	3	532	c.179A>G	c.(178-180)TAT>TGT	p.Y60C	ZDHHC7_uc010voi.1_Missense_Mutation_p.Y60C|ZDHHC7_uc002fir.1_RNA	NM_017740	NP_060210	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7 isoform 2	60	Helical; (Potential).					integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(1)	1						GAAGTCTGCATAGGCGACCAG	0.577													C	85024046	T	C	85024046	3	2	27	1	0	0	0	0	1	0	0	0	17617	1406	49	3	886	3	ZDHHC7	16	85024046	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	531252	85024046	5330707	6870	30821											
FOXF1	2294	broad.mit.edu	37	chr16	86545019	86545019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcggcgctcaacagcggcGcctcttatatcaagcagcag	11	15	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:86545019G>A	uc002fjl.2	+	1	887	c.844G>A	c.(844-846)GCC>ACC	p.A282T	uc002fjk.1_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	282					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0						CAACAGCGGCGCCTCTTATAT	0.726													A	86545019	G	A	86545019	3	1	27	1	0	0	0	0	1	0	0	0	6005	1087	38	1	846	1	FOXF1	16	86545019	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1520973	86545019	3809734	6871	30822											
FOXF1	2294	broad.mit.edu	37	chr16	86546570	86546570	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcgcccagcatgtgtgAccgaaaggagtttgtcttct	12	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:86546570A>C	uc002fjl.2	+	2	1062	c.1019A>C	c.(1018-1020)GAC>GCC	p.D340A		NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	340					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0						AGCATGTGTGACCGAAAGGAG	0.612													C	86546570	A	C	86546570	3	2	27	1	0	0	0	0	1	0	0	0	6005	275	10	5	1025	5	FOXF1	16	86546570	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1551	86546570	3808183	6872	30823											
FOXC2	2303	broad.mit.edu	37	chr16	86601011	86601011	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctacctgagcgagcagaatTactaccgggctgcgggcagc	13	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:86601011T>C	uc002fjq.2	+	1	155	c.70T>C	c.(70-72)TAC>CAC	p.Y24H		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	24					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding				0						CGAGCAGAATTACTACCGGGC	0.701									Late-onset_Hereditary_Lymphedema				C	86601011	T	C	86601011	3	2	27	1	0	0	0	0	1	0	0	0	5995	1754	61	3	72	3	FOXC2	16	86601011	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	54441	86601011	3753742	6873	30824											
FOXL1	2300	broad.mit.edu	37	chr16	86612547	86612547	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagcagagggtcacgctcaAcggcatctaccagttcatca	10	13	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:86612547A>G	uc002fjr.2	+	1	433	c.218A>G	c.(217-219)AAC>AGC	p.N73S		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	forkhead box L1	73	Fork-head.				brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1						GTCACGCTCAACGGCATCTAC	0.647													G	86612547	A	G	86612547	3	3	27	1	0	0	0	0	1	0	0	0	6016	43	2	3	220	3	FOXL1	16	86612547	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	11536	86612547	3742206	6874	30825											
FBXO31	79791	broad.mit.edu	37	chr16	87380856	87380856	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtctatatcggtgaagcActacaggaggagagaaagag	14	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:87380856A>G	uc002fjw.2	-	3	457	c.413T>C	c.(412-414)CTG>CCG	p.L138P	FBXO31_uc010vot.1_5'UTR|FBXO31_uc002fjv.2_Missense_Mutation_p.L30P	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	138				L -> V (in Ref. 1; AAU50679).	cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0272)		TCGGTGAAGCACTACAGGAGG	0.567													G	87380856	A	G	87380856	3	3	27	1	0	0	0	0	1	0	0	0	5741	173	6	3	1234	3	FBXO31	16	87380856	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	768309	87380856	2973897	6875	30826											
SLC7A5	8140	broad.mit.edu	37	chr16	87871474	87871474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacacgagggacggcacggGggtgaggagctgtgggtgga	22	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:87871474G>A	uc002fkm.2	-	7	1189	c.1117C>T	c.(1117-1119)CCC>TCC	p.P373S		NM_003486	NP_003477	Q01650	LAT1_HUMAN	solute carrier family 7 (cationic amino acid	373					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding				0				BRCA - Breast invasive adenocarcinoma(80;0.049)		GACGGCACGGGGGTGAGGAGC	0.657													A	87871474	G	A	87871474	3	1	27	1	0	0	0	0	1	0	0	0	14700	1232	43	4	422	4	SLC7A5	16	87871474	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	490618	87871474	2483279	6876	30827											
ZC3H18	124245	broad.mit.edu	37	chr16	88697554	88697554	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagagctccagcaaggtcacGagcgtgcccggcaaagcctc	12	14	1	1	rs142280171	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:88697554G>A	uc002fky.2	+	18	2909	c.2709G>A	c.(2707-2709)ACG>ACA	p.T903T	ZC3H18_uc010voz.1_Silent_p.T927T|ZC3H18_uc010chw.2_RNA|ZC3H18_uc002fkz.2_Silent_p.T173T	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	903						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GCAAGGTCACGAGCGTGCCCG	0.647													A	88697554	G	A	88697554	2	1	27	1	0	0	0	0	0	0	0	1	17565	1045	37	1		1	ZC3H18	16	88697554	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	826080	88697554	1657199	6877	30828											
TRAPPC2L	51693	broad.mit.edu	37	chr16	88923569	88923569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcccaagatggcggtgtGcatcgcggtgattgccaagg	15	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:88923569G>A	uc002fmc.2	+	1	64	c.11G>A	c.(10-12)TGC>TAC	p.C4Y	GALNS_uc002fly.3_5'Flank|GALNS_uc010cid.2_5'Flank|GALNS_uc002flz.3_5'Flank|GALNS_uc002fma.2_5'Flank|TRAPPC2L_uc010cie.2_Intron|TRAPPC2L_uc002fmd.3_Missense_Mutation_p.C4Y|TRAPPC2L_uc002fme.3_Missense_Mutation_p.C4Y|TRAPPC2L_uc002fmf.2_5'Flank	NM_016209	NP_057293	Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	4					ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm					0				BRCA - Breast invasive adenocarcinoma(80;0.0477)		ATGGCGGTGTGCATCGCGGTG	0.692													A	88923569	G	A	88923569	3	1	27	1	0	0	0	0	1	0	0	0	16456	1319	46	2	13	2	TRAPPC2L	16	88923569	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	226015	88923569	1431184	6878	30829											
ZNF778	197320	broad.mit.edu	37	chr16	89294580	89294580	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcggaaaggccttcaccacAtcctcacaccttatcgtgca	7	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:89294580A>G	uc002fmv.2	+	6	2139	c.1800A>G	c.(1798-1800)ACA>ACG	p.T600T	ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Silent_p.T558T|ZNF778_uc010vpg.1_Silent_p.T363T	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	600	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)		CCTTCACCACATCCTCACACC	0.468													G	89294580	A	G	89294580	2	3	27	1	0	0	0	0	0	0	0	1	18148	204	8	3		3	ZNF778	16	89294580	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	371011	89294580	1060173	6879	30830											
CDK10	8558	broad.mit.edu	37	chr16	89756986	89756986	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccgggacacccagacagaTgagattgtcgcactgaagaa	12	11	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:89756986T>C	uc010cio.2	+	3	229	c.186T>C	c.(184-186)GAT>GAC	p.D62D	CDK10_uc002foa.2_Silent_p.D56D|CDK10_uc010cip.2_5'UTR|CDK10_uc010vpl.1_Silent_p.D56D|CDK10_uc002fob.2_5'UTR|CDK10_uc002fod.2_5'UTR|CDK10_uc002foe.2_5'UTR|CDK10_uc002fof.2_5'UTR|CDK10_uc002fog.3_5'UTR|CDK10_uc002foh.3_5'UTR	NM_052988	NP_443714	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10 isoform a	62	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		CCCAGACAGATGAGATTGTCG	0.577													C	89756986	T	C	89756986	2	2	27	1	0	0	0	0	0	0	0	1	3125	1461	51	3		3	CDK10	16	89756986	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	462406	89756986	597767	6880	30831											
SPATA2L	124044	broad.mit.edu	37	chr16	89764584	89764584	+	Frame_Shift_Del	DEL	C	C	-													cacctgcaccagctggcaggCggggggcagggcggtcacca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:89764583_89764583GC>G	uc002foj.3	-	2	521	c.434_434GC>C	c.(433-435)gccfs	p.A145fs	SPATA2L_uc002fok.3_Intron	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	Homo sapiens spermatogenesis associated 2-like (SPATA2L), mRNA.	145										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		CAGCTGGCAGGCGGGGGGCAG	0.657													-	89764584	C	-	89764584	7	5	27	1	0	1	0	1	0	0	0	0	15008	768	27	0	845	0	SPATA2L	16	89764584	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	7598	89764584	590169	6881	30832											
SPATA2L	124044	broad.mit.edu	37	chr16	89764596	89764596	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggcaggcggggggcagggCggtcaccatgagccgatggc	20	11	1	1	rs35826409	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:89764596C>A	uc002foj.2	-	3	486	c.421G>T	c.(421-423)GCC>TCC	p.A141S	SPATA2L_uc002fok.2_Intron	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	141											0		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		GGGGGCAGGGCGGTCACCATG	0.662													A	89764596	C	A	89764596	3	1	27	1	0	0	0	0	1	0	0	0	15008	768	27	5	857	5	SPATA2L	16	89764596	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	12	89764596	590157	6882	30833											
C16orf7	9605	broad.mit.edu	37	chr16	89776229	89776229	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagcggggagaaaaagggTtcctcaatgcaggccaggca	14	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:89776229T>C	uc002fom.1	-	11	1469	c.1344A>G	c.(1342-1344)GAA>GAG	p.E448E	C16orf7_uc002fol.1_Silent_p.E378E|uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	448					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		AGAAAAAGGGTTCCTCAATGC	0.607													C	89776229	T	C	89776229	2	2	27	1	0	0	0	0	0	0	0	1	1828	1722	60	3		3	C16orf7	16	89776229	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	11633	89776229	578524	6883	30834											
C16orf7	9605	broad.mit.edu	37	chr16	89783004	89783004	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggaatgggagcagctgcAggcatggttggcttcaggcg	19	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:89783004A>G	uc002fom.1	-	4	422	c.297T>C	c.(295-297)CCT>CCC	p.P99P	C16orf7_uc002fol.1_Silent_p.P29P|uc002fon.1_RNA|uc002foo.1_5'UTR	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	99					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GAGCAGCTGCAGGCATGGTTG	0.607													G	89783004	A	G	89783004	2	3	27	1	0	0	0	0	0	0	0	1	1828	175	7	3		3	C16orf7	16	89783004	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	6775	89783004	571749	6884	30835											
FANCA	2175	broad.mit.edu	37	chr16	89836392	89836392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccaggtgcacggccaggGcagccaaccccagcacatgt	11	17	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:89836392G>A	uc002fou.1	-	26	2399	c.2357C>T	c.(2356-2358)GCC>GTC	p.A786V	FANCA_uc010vpn.1_Missense_Mutation_p.A786V	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	786					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CACGGCCAGGGCAGCCAACCC	0.637			D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				A	89836392	G	A	89836392	3	1	27	1	0	0	0	0	1	0	0	0	5662	1203	42	2	2082	2	FANCA	16	89836392	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	53388	89836392	518361	6885	30836											
TCF25	22980	broad.mit.edu	37	chr16	89977618	89977618	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcgccgcacgaggacgAcgctgagggggagggggagt	23	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:89977618A>G	uc002fpb.2	+	18	2085	c.2003A>G	c.(2002-2004)GAC>GGC	p.D668G	TCF25_uc002fpc.2_Silent_p.R472R|uc010ciy.1_5'Flank	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	NULP1	668					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CACGAGGACGACGCTGAGGGG	0.617													G	89977618	A	G	89977618	3	3	27	1	0	0	0	0	1	0	0	0	15690	275	10	3	2073	3	TCF25	16	89977618	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	141226	89977618	377135	6886	30837											
DEF8	54849	broad.mit.edu	37	chr16	90029779	90029779	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttgtttgcagaagctgcgCcaggacatcctgctcatgaa	10	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:90029779C>A	uc002fpn.1	+	10	1202	c.1113C>A	c.(1111-1113)CGC>CGA	p.R371R	DEF8_uc002fpo.1_Silent_p.R310R|DEF8_uc002fpp.1_Silent_p.R300R|DEF8_uc010vpq.1_Silent_p.R250R|DEF8_uc010vpr.1_Silent_p.R310R|DEF8_uc002fpq.1_5'Flank	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 isoform 1	371					intracellular signal transduction		zinc ion binding			central_nervous_system(1)	1		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		AGAAGCTGCGCCAGGACATCC	0.682													A	90029779	C	A	90029779	2	1	27	1	0	0	0	0	0	0	0	1	4387	726	26	5		5	DEF8	16	90029779	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	52161	90029779	324974	6887	30838											
GAS8	2622	broad.mit.edu	37	chr16	90099232	90099232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggcacagaaagagcaccGcatacaggagagtgtgctgc	14	10	0	3	rs145845004		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr16:90099232G>A	uc002fqi.1	+	4	517	c.395G>A	c.(394-396)CGC>CAC	p.R132H	GAS8_uc010vps.1_Missense_Mutation_p.R107H|GAS8_uc002fqh.2_Missense_Mutation_p.R49H|GAS8_uc010vpt.1_Missense_Mutation_p.R132H|GAS8_uc010vpu.1_Missense_Mutation_p.R49H|GAS8_uc010vpv.1_Missense_Mutation_p.R103H|GAS8_uc010cjc.1_Missense_Mutation_p.R49H|GAS8_uc010vpw.1_Missense_Mutation_p.R49H|GAS8_uc002fqj.1_5'UTR|C16orf3_uc002fqk.1_5'Flank	NM_001481	NP_001472	O95995	GAS8_HUMAN	growth arrest-specific 8	132	Microtubule-binding.				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AAAGAGCACCGCATACAGGAG	0.557													A	90099232	G	A	90099232	3	1	27	1	0	0	0	0	1	0	0	0	6251	1087	38	1	409	1	GAS8	16	90099232	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	69453	90099232	255521	6888	30839											
RPH3AL	9501	broad.mit.edu	37	chr17	177323	177323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattcccgctgccgaagatGgtgtcggccatggctcggag	14	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:177323G>A	uc002frd.1	-	1	56	c.12C>T	c.(10-12)ACC>ACT	p.T4T	RPH3AL_uc010vpy.1_Silent_p.T4T|RPH3AL_uc002fre.1_Silent_p.T4T|RPH3AL_uc002frf.1_Silent_p.T4T|RPH3AL_uc010cjl.1_Silent_p.T4T	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	4					exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		TGCCGAAGATGGTGTCGGCCA	0.617													A	177323	G	A	177323	2	1	27	1	0	0	0	0	0	0	0	1	13552	1335	47	4		4	RPH3AL	17	177323	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08		177323	81017887	6889	30840											
VPS53	55275	broad.mit.edu	37	chr17	534801	534801	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcagtaccttggtgccctGggaaggaaacgcttcttcaa	11	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:534801G>A	uc002frn.2	-	8	823	c.676C>T	c.(676-678)CAG>TAG	p.Q226*	VPS53_uc002frk.2_5'UTR|VPS53_uc010cjo.1_Nonsense_Mutation_p.Q226*|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Nonsense_Mutation_p.Q197*|VPS53_uc002fro.2_Nonsense_Mutation_p.Q28*|VPS53_uc010cjp.1_Intron	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 isoform 2	226					protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TTGGTGCCCTGGGAAGGAAAC	0.507													A	534801	G	A	534801	4	1	27	1	0	0	0	0	0	1	0	0	17212	1357	47	4	1897	4	VPS53	17	534801	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	357478	534801	80660409	6890	30841											
NXN	64359	broad.mit.edu	37	chr17	704358	704358	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtaatctcgcagggagTcagtcatgtcatcctgaagc	12	9	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:704358T>A	uc002fsa.2	-	8	1231	c.1139A>T	c.(1138-1140)GAC>GTC	p.D380V	NXN_uc010vqd.1_Missense_Mutation_p.D71V|NXN_uc002frz.2_Missense_Mutation_p.D131V|NXN_uc010vqe.1_Missense_Mutation_p.D272V	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	380					cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TCGCAGGGAGTCAGTCATGTC	0.572													A	704358	T	A	704358	3	1	27	1	0	0	0	0	1	0	0	0	10787	1667	58	5	172	5	NXN	17	704358	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	169557	704358	80490852	6891	30842											
TIMM22	29928	broad.mit.edu	37	chr17	902817	902817	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcacgggaggagctattggTttcagaggttagtaaacggc	14	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:902817T>G	uc002fsc.2	+	3	527	c.501T>G	c.(499-501)GGT>GGG	p.G167G		NM_013337	NP_037469	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22	167				IG -> YW (in Ref. 1; AAD40106).	transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GAGCTATTGGTTTCAGAGGTT	0.498													G	902817	T	G	902817	2	3	27	1	0	0	0	0	0	0	0	1	15907	1712	60	5		5	TIMM22	17	902817	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	198459	902817	80292393	6892	30843											
ABR	29	broad.mit.edu	37	chr17	914003	914003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggctgggtagagtcggtcCgtgaggagcggctcgggcag	20	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:914003C>T	uc002fsd.2	-	20	2312	c.2202G>A	c.(2200-2202)ACG>ACA	p.T734T	ABR_uc002fse.2_Silent_p.T688T|ABR_uc010vqf.1_Silent_p.T185T|ABR_uc010vqg.1_Silent_p.T516T|ABR_uc002fsg.2_Silent_p.T697T|ABR_uc002fsh.1_Silent_p.T342T|ABR_uc002fsf.2_Silent_p.T271T	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	734	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		AGAGTCGGTCCGTGAGGAGCG	0.622													T	914003	C	T	914003	2	4	27	1	0	0	0	0	0	0	0	1	99	639	23	1		1	ABR	17	914003	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	11186	914003	80281207	6893	30844											
ABR	29	broad.mit.edu	37	chr17	914062	914062	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcgtcccggcgatggcgtTgatgtccatgtcactcagca	13	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:914062T>C	uc002fsd.2	-	20	2253	c.2143A>G	c.(2143-2145)AAC>GAC	p.N715D	ABR_uc002fse.2_Missense_Mutation_p.N669D|ABR_uc010vqf.1_Missense_Mutation_p.N166D|ABR_uc010vqg.1_Missense_Mutation_p.N497D|ABR_uc002fsg.2_Missense_Mutation_p.N678D|ABR_uc002fsh.1_Missense_Mutation_p.N323D|ABR_uc002fsf.2_Missense_Mutation_p.N252D	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	715	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GCGATGGCGTTGATGTCCATG	0.637													C	914062	T	C	914062	3	2	27	1	0	0	0	0	1	0	0	0	99	1812	63	3	452	3	ABR	17	914062	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	59	914062	80281148	6894	30845											
ABR	29	broad.mit.edu	37	chr17	953410	953410	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactgggagccctccagctcGatctcaaactcctggggaaa	11	13	1	0	rs141242979	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:953410G>A	uc002fsd.2	-	16	1781	c.1671C>T	c.(1669-1671)ATC>ATT	p.I557I	ABR_uc002fse.2_Silent_p.I511I|ABR_uc010vqg.1_Silent_p.I339I|ABR_uc002fsg.2_Silent_p.I520I|ABR_uc002fsh.1_Intron	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	557	C2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CCTCCAGCTCGATCTCAAACT	0.557													A	953410	G	A	953410	2	1	27	1	0	0	0	0	0	0	0	1	99	1048	37	1		1	ABR	17	953410	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	39348	953410	80241800	6895	30846											
PRPF8	10594	broad.mit.edu	37	chr17	1576438	1576438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcggttgtggaagcgctgCattgactcatcgtccacacg	12	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:1576438C>T	uc002fte.2	-	24	3825	c.3711G>A	c.(3709-3711)ATG>ATA	p.M1237I		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1237						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGAAGCGCTGCATTGACTCAT	0.547													T	1576438	C	T	1576438	3	4	27	1	0	0	0	0	1	0	0	0	12575	710	25	2	3376	2	PRPF8	17	1576438	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	623028	1576438	79618772	6896	30847											
PRPF8	10594	broad.mit.edu	37	chr17	1579343	1579343	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagactggttcaaccgagacTtcacactgacaaaagcaatg	9	10	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:1579343T>C	uc002fte.2	-	18	2672	c.2558A>G	c.(2557-2559)AAG>AGG	p.K853R		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	853						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CAACCGAGACTTCACACTGAC	0.532													C	1579343	T	C	1579343	3	2	27	1	0	0	0	0	1	0	0	0	12575	1609	56	3	4553	3	PRPF8	17	1579343	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2905	1579343	79615867	6897	30848											
SMYD4	114826	broad.mit.edu	37	chr17	1686415	1686415	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaacctccaccacgtagagActcctctgtagatgggtggc	11	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:1686415A>G	uc002ftm.3	-	10	2343	c.2175T>C	c.(2173-2175)AGT>AGC	p.S725S	SMYD4_uc002ftn.1_Silent_p.S580S	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	725							zinc ion binding			skin(3)|kidney(2)	5						CCACGTAGAGACTCCTCTGTA	0.493													G	1686415	A	G	1686415	2	3	27	1	0	0	0	0	0	0	0	1	14824	272	10	3		3	SMYD4	17	1686415	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	107072	1686415	79508795	6898	30849											
RPA1	6117	broad.mit.edu	37	chr17	1782983	1782983	+	Frame_Shift_Del	DEL	G	G	-													ggtggtgactgctacactgtGgggggaagatgtaagtgctg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:1782982_1782982TG>T	uc002fto.2	+	10	1196	c.1081_1081TG>T	c.(1081-1083)tggfs	p.W361fs		NM_002945	NP_002936	P27694	RFA1_HUMAN	Homo sapiens replication protein A1, 70kDa (RPA1), mRNA.	361					DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body|actin cytoskeleton|cytoplasm	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTACACTGTGGGGGGAAGA	0.532								Nucleotide excision repair (NER)					-	1782983	G	-	1782983	7	5	27	1	0	1	0	1	0	0	0	0	13536	1357	47	0	1124	0	RPA1	17	1782983	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	96568	1782983	79412227	6899	30850											
SGSM2	9905	broad.mit.edu	37	chr17	2266328	2266328	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taagctcaagacagccgatcActactggactgacccctctg	8	14	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:2266328A>G	uc002fun.3	+	6	747	c.572A>G	c.(571-573)CAC>CGC	p.H191R	SGSM2_uc002fum.3_Missense_Mutation_p.H191R|SGSM2_uc010vqw.1_Missense_Mutation_p.H191R	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	191	RUN.					intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		ACAGCCGATCACTACTGGACT	0.632													G	2266328	A	G	2266328	3	3	27	1	0	0	0	0	1	0	0	0	14223	159	6	3	594	3	SGSM2	17	2266328	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	483345	2266328	78928882	6900	30851											
METT10D	79066	broad.mit.edu	37	chr17	2323876	2323876	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttttccacagggaacTcgtttatgctggacctgttt	8	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:2323876T>C	uc002fut.2	-	10	1225	c.1077A>G	c.(1075-1077)CGA>CGG	p.R359R	METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Intron|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_Silent_p.R141R	NM_024086	NP_076991	Q86W50	MET16_HUMAN	methyltransferase 10 domain containing	359							methyltransferase activity				0						CACAGGGAACTCGTTTATGCT	0.388													C	2323876	T	C	2323876	2	2	27	1	0	0	0	0	0	0	0	1	9490	1538	54	3		3	METT10D	17	2323876	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	57548	2323876	78871334	6901	30852											
PAFAH1B1	5048	broad.mit.edu	37	chr17	2579802	2579802	+	Frame_Shift_Del	DEL	A	A	-													tattatgttttctgtagactAaaaaaagtggtaaacctggg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:2579801_2579801TA>T	uc002fuw.4	+	8	1471	c.903_903TA>T	c.(901-903)actfs	p.T301fs	PAFAH1B1_uc010ckb.2_Intron|PAFAH1B1_uc010vqz.2_Intron	NM_000430	NP_000421	P43034	LIS1_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1), mRNA.	301	Interaction with dynein and dynactin.				G2/M transition of mitotic cell cycle|acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TTCTGTAGACTAAAAAAAGTG	0.358													-	2579802	A	-	2579802	7	5	27	1	0	1	0	1	0	0	0	0	11384	363	13	0	934	0	PAFAH1B1	17	2579802	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	255926	2579802	78615408	6902	30853											
KIAA0664	23277	broad.mit.edu	37	chr17	2604436	2604436	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggggacaaaggcactacctTttcttctgcagcacagcgaa	10	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:2604436T>C	uc002fuy.1	-	7	995	c.909A>G	c.(907-909)AAA>AAG	p.K303K	KIAA0664_uc002fux.1_Silent_p.K235K	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	303							binding			breast(2)	2						GGCACTACCTTTTCTTCTGCA	0.602													C	2604436	T	C	2604436	2	2	27	1	0	0	0	0	0	0	0	1	8189	1838	64	3		3	KIAA0664	17	2604436	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	24634	2604436	78590774	6903	30854											
KIAA0664	23277	broad.mit.edu	37	chr17	2604780	2604780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccccgggggcgggttccatCcgctcatggtgagtactttc	13	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:2604780C>T	uc002fuy.1	-	6	751	c.665G>A	c.(664-666)GGA>GAA	p.G222E	KIAA0664_uc002fux.1_Missense_Mutation_p.G154E	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	222							binding			breast(2)	2						CGGGTTCCATCCGCTCATGGT	0.657													T	2604780	C	T	2604780	3	4	27	1	0	0	0	0	1	0	0	0	8189	855	30	4	3348	4	KIAA0664	17	2604780	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	344	2604780	78590430	6904	30855											
KIAA0664	23277	broad.mit.edu	37	chr17	2605316	2605316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaggtctcggacatggcGcacgtggatgcgggcctcac	16	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:2605316G>A	uc002fuy.1	-	4	483	c.397C>T	c.(397-399)CGC>TGC	p.R133C	KIAA0664_uc002fux.1_Missense_Mutation_p.R65C	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	133							binding			breast(2)	2						CGGACATGGCGCACGTGGATG	0.622													A	2605316	G	A	2605316	3	1	27	1	0	0	0	0	1	0	0	0	8189	1087	38	1	3624	1	KIAA0664	17	2605316	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	536	2605316	78589894	6905	30856											
RAP1GAP2	23108	broad.mit.edu	37	chr17	2867364	2867364	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggcacttcctggggaaggTgaggctgggggagaggagct	21	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:2867364T>C	uc010ckd.2	+	7	582	c.492_splice	c.e7+2	p.K164_splice	RAP1GAP2_uc010cke.2_Splice_Site_p.K149_splice	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2 isoform 1						regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			ovary(1)	1						CTGGGGAAGGTGAGGCTGGGG	0.627													C	2867364	T	C	2867364	5	2	27	1	0	0	0	0	0	0	1	0	13038	1710	59	3	520	3	RAP1GAP2	17	2867364	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	262048	2867364	78327846	6906	30857											
OR3A1	4994	broad.mit.edu	37	chr17	3195465	3195465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggactgtctgactcatgcGggtgctgtaggtgaggggcc	17	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:3195465G>A	uc002fvh.1	-	1	412	c.412C>T	c.(412-414)CGC>TGC	p.R138C		NM_002550	NP_002541	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|central_nervous_system(1)	3						TGACTCATGCGGGTGCTGTAG	0.582													A	3195465	G	A	3195465	3	1	27	1	0	0	0	0	1	0	0	0	11037	1116	39	1	539	1	OR3A1	17	3195465	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	328101	3195465	77999745	6907	30858											
ASPA	443	broad.mit.edu	37	chr17	3386793	3386793	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtttttgatttttttcagActtctctggctccactaccc	5	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:3386793A>G	uc010ckg.2	+	4	524	c.433A>G	c.(433-435)ACT>GCT	p.T145A	SPATA22_uc010vrg.1_Intron|ASPA_uc002fvq.2_Missense_Mutation_p.T145A	NM_001128085	NP_001121557	P45381	ACY2_HUMAN	aspartoacylase	145					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding				0					L-Aspartic Acid(DB00128)	TTTTTTTCAGACTTCTCTGGC	0.398													G	3386793	A	G	3386793	3	3	27	1	0	0	0	0	1	0	0	0	1050	289	10	3	443	3	ASPA	17	3386793	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	191328	3386793	77808417	6908	30859											
TRPV3	162514	broad.mit.edu	37	chr17	3433413	3433413	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtagagggaggatgacacggGtccgtacgcccagtcggtga	17	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:3433413G>C	uc002fvt.1	-	9	1472	c.1150C>G	c.(1150-1152)CCC>GCC	p.P384A	TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.P368A|TRPV3_uc010vri.1_Missense_Mutation_p.P339A|TRPV3_uc010vrj.1_Missense_Mutation_p.P368A|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.P368A|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.P384A|TRPV3_uc002fvu.2_Missense_Mutation_p.P384A|TRPV3_uc010vrn.1_5'UTR	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	384	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	GATGACACGGGTCCGTACGCC	0.572													C	3433413	G	C	3433413	3	2	27	1	0	0	0	0	1	0	0	0	16594	1261	44	5	1262	5	TRPV3	17	3433413	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	46620	3433413	77761797	6909	30860											
TRPV1	7442	broad.mit.edu	37	chr17	3483809	3483809	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcgacggccgcctctgcaGgaaatactgaatctgcaggt	11	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:3483809G>T	uc010vrr.1	-	9	2016	c.1489C>A	c.(1489-1491)CTG>ATG	p.L497M	TRPV1_uc010vro.1_Missense_Mutation_p.L508M|TRPV1_uc010vrp.1_Missense_Mutation_p.L437M|TRPV1_uc010vrq.1_Missense_Mutation_p.L495M|TRPV1_uc010vrs.1_Missense_Mutation_p.L497M|TRPV1_uc010vrt.1_Missense_Mutation_p.L497M|TRPV1_uc010vru.1_Missense_Mutation_p.L497M	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	497	Helical; (Potential).				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CGCCTCTGCAGGAAATACTGA	0.498													T	3483809	G	T	3483809	3	4	27	1	0	0	0	0	1	0	0	0	16592	991	35	5	731	5	TRPV1	17	3483809	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	50396	3483809	77711401	6910	30861											
TRPV1	7442	broad.mit.edu	37	chr17	3494585	3494585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacggcttcaaagatactcCtgcgatcatagagcctgagg	10	11	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:3494585C>T	uc010vrr.1	-	2	874	c.347G>A	c.(346-348)AGG>AAG	p.R116K	TRPV1_uc010vro.1_Missense_Mutation_p.R116K|TRPV1_uc010vrp.1_Missense_Mutation_p.R116K|TRPV1_uc010vrq.1_Missense_Mutation_p.G91R|TRPV1_uc010vrs.1_Missense_Mutation_p.R116K|TRPV1_uc010vrt.1_Missense_Mutation_p.R116K|TRPV1_uc010vru.1_Missense_Mutation_p.R116K	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	116	Cytoplasmic (Potential).|ANK 1.				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	AAAGATACTCCTGCGATCATA	0.567													T	3494585	C	T	3494585	3	4	27	1	0	0	0	0	1	0	0	0	16592	681	24	4	1901	4	TRPV1	17	3494585	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	10776	3494585	77700625	6911	30862											
P2RX5	5026	broad.mit.edu	37	chr17	3599262	3599262	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcggtcttgtagtcgaacAgcgacaggcagagccccttg	12	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:3599262A>C	uc002fwi.2	-	1	322	c.38T>G	c.(37-39)CTG>CGG	p.L13R	P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Missense_Mutation_p.L13R|P2RX5_uc002fwj.2_Missense_Mutation_p.L13R|P2RX5_uc002fwk.2_Missense_Mutation_p.L13R|P2RX5_uc002fwl.2_Missense_Mutation_p.L13R|P2RX5_uc002fwm.1_Missense_Mutation_p.L13R	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	purinergic receptor P2X5 isoform A	13	Cytoplasmic (Potential).				nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						GTAGTCGAACAGCGACAGGCA	0.662													C	3599262	A	C	3599262	3	2	27	1	0	0	0	0	1	0	0	0	11343	188	7	5	1282	5	P2RX5	17	3599262	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	104677	3599262	77595948	6912	30863											
ITGAE	3682	broad.mit.edu	37	chr17	3656663	3656663	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagcagccaccagcaagaagTccgtgcttccatccatgtca	9	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:3656663T>A	uc002fwo.3	-	14	1688	c.1589A>T	c.(1588-1590)GAC>GTC	p.D530V		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	530	Potential.|FG-GAP 5.|Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CAGCAAGAAGTCCGTGCTTCC	0.562													A	3656663	T	A	3656663	3	1	27	1	0	0	0	0	1	0	0	0	7885	1667	58	5	2022	5	ITGAE	17	3656663	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	57401	3656663	77538547	6913	30864											
ITGAE	3682	broad.mit.edu	37	chr17	3660314	3660314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtaccgcagtttgctcaGcagcccatccagcgccatgt	10	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:3660314G>A	uc002fwo.3	-	10	1234	c.1135C>T	c.(1135-1137)CTG>TTG	p.L379L		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	379	VWFA.|Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AGTTTGCTCAGCAGCCCATCC	0.473													A	3660314	G	A	3660314	2	1	27	1	0	0	0	0	0	0	0	1	7885	962	34	2		2	ITGAE	17	3660314	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3651	3660314	77534896	6914	30865											
CAMKK1	84254	broad.mit.edu	37	chr17	3779601	3779601	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtgctggacagctgagcGtcgttcccctcaaactggtt	12	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:3779601G>A	uc002fwt.2	-	10	1006	c.912C>T	c.(910-912)GAC>GAT	p.D304D	CAMKK1_uc002fwu.2_Silent_p.D304D|CAMKK1_uc002fwv.2_Silent_p.D342D	NM_172206	NP_757343	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase 1	304	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		ACAGCTGAGCGTCGTTCCCCT	0.612													A	3779601	G	A	3779601	2	1	27	1	0	0	0	0	0	0	0	1	2606	1136	40	1		1	CAMKK1	17	3779601	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	119287	3779601	77415609	6915	30866											
ZZEF1	23140	broad.mit.edu	37	chr17	4020355	4020355	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtgctccagcatcgggTagggcatcaccgcgctggag	15	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:4020355T>C	uc002fxe.2	-	3	669	c.605A>G	c.(604-606)TAC>TGC	p.Y202C	ZZEF1_uc002fxk.1_Missense_Mutation_p.Y202C	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	202							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CAGCATCGGGTAGGGCATCAC	0.522													C	4020355	T	C	4020355	3	2	27	1	0	0	0	0	1	0	0	0	18252	1638	57	3	8492	3	ZZEF1	17	4020355	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	240754	4020355	77174855	6916	30867											
SPNS2	124976	broad.mit.edu	37	chr17	4436605	4436605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacgggggcaggagccacgCgctggtgccgcctgaagacc	16	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:4436605C>T	uc002fxx.2	+	8	1370	c.1156C>T	c.(1156-1158)CGC>TGC	p.R386C		NM_001124758	NP_001118230	Q8IVW8	SPNS2_HUMAN	spinster homolog 2	386					lipid transport|transmembrane transport	integral to membrane					0						AGGAGCCACGCGCTGGTGCCG	0.642													T	4436605	C	T	4436605	3	4	27	1	0	0	0	0	1	0	0	0	15074	768	27	1	1186	1	SPNS2	17	4436605	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	416250	4436605	76758605	6917	30868											
GGT6	124975	broad.mit.edu	37	chr17	4463748	4463748	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctcctccacttcctcCtccgactccaagcttggctc	4	21	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:4463748C>A	uc002fyd.3	-	1	129	c.69G>T	c.(67-69)GAG>GAT	p.E23D	GGT6_uc010vsb.1_5'Flank|GGT6_uc002fyc.3_Missense_Mutation_p.E23D|GGT6_uc010vsc.1_Missense_Mutation_p.E23D	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6 isoform a	23	Cytoplasmic (Potential).|Poly-Glu.				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			skin(1)	1						CCACTTCCTCCTCCGACTCCA	0.647													A	4463748	C	A	4463748	3	1	27	1	0	0	0	0	1	0	0	0	6363	680	24	5	1428	5	GGT6	17	4463748	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	27143	4463748	76731462	6918	30869											
CXCL16	58191	broad.mit.edu	37	chr17	4641712	4641712	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaagtctcacctttgagatCaagacagctcatcaattcct	5	11	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:4641712C>T	uc002fyr.3	-	3	881	c.349G>A	c.(349-351)GAT>AAT	p.D117N	CXCL16_uc002fyq.3_5'Flank|CXCL16_uc002fys.3_Missense_Mutation_p.D117N|ZMYND15_uc002fyv.2_5'Flank|ZMYND15_uc002fyt.2_5'Flank|ZMYND15_uc002fyu.2_5'Flank	NM_022059	NP_071342	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	98	Extracellular (Potential).|Chemokine.				lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity				0						CCTTTGAGATCAAGACAGCTC	0.547													T	4641712	C	T	4641712	3	4	27	1	0	0	0	0	1	0	0	0	4083	826	29	4	484	4	CXCL16	17	4641712	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	177964	4641712	76553498	6919	30870											
ZMYND15	84225	broad.mit.edu	37	chr17	4647966	4647966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttccggcatatcagcacGgcccagctctggcactaagg	12	13	2	0	rs138988876		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:4647966G>A	uc002fyt.2	+	10	1652	c.1613G>A	c.(1612-1614)CGG>CAG	p.R538Q	ZMYND15_uc002fyv.2_Missense_Mutation_p.R577Q|ZMYND15_uc002fyu.2_Missense_Mutation_p.R577Q	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15 isoform 2	538							zinc ion binding				0						ATATCAGCACGGCCCAGCTCT	0.637													A	4647966	G	A	4647966	3	1	27	1	0	0	0	0	1	0	0	0	17705	1116	39	1	1768	1	ZMYND15	17	4647966	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	6254	4647966	76547244	6920	30871											
PLD2	5338	broad.mit.edu	37	chr17	4711687	4711687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgagacacaaagtctTgatgagtctgctccctctgg	9	13	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:4711687T>C	uc002fzc.2	+	4	460	c.359T>C	c.(358-360)TTG>TCG	p.L120S	PLD2_uc010vsj.1_5'UTR|PLD2_uc002fzd.2_Missense_Mutation_p.L120S	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	120	PX.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)	CACAAAGTCTTGATGAGTCTG	0.572													C	4711687	T	C	4711687	3	2	27	1	0	0	0	0	1	0	0	0	12046	1821	63	3	369	3	PLD2	17	4711687	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	63721	4711687	76483523	6921	30872											
PLD2	5338	broad.mit.edu	37	chr17	4714224	4714224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacagctacgccccacccCggcctgggaccttggcccgg	12	18	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:4714224C>T	uc002fzc.2	+	10	1089	c.988C>T	c.(988-990)CGG>TGG	p.R330W	PLD2_uc010vsj.1_Missense_Mutation_p.R187W|PLD2_uc002fzd.2_Missense_Mutation_p.R330W	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	330					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)	CGCCCCACCCCGGCCTGGGAC	0.617													T	4714224	C	T	4714224	3	4	27	1	0	0	0	0	1	0	0	0	12046	643	23	1	1022	1	PLD2	17	4714224	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2537	4714224	76480986	6922	30873											
PLD2	5338	broad.mit.edu	37	chr17	4721823	4721823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgagtctacgtgcttttgCccttactccctggcttcgag	9	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:4721823C>T	uc002fzc.2	+	20	2145	c.2044C>T	c.(2044-2046)CCC>TCC	p.P682S	PLD2_uc002fzd.2_Missense_Mutation_p.P682S	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	682	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)	CGTGCTTTTGCCCTTACTCCC	0.617													T	4721823	C	T	4721823	3	4	27	1	0	0	0	0	1	0	0	0	12046	739	26	2	2118	2	PLD2	17	4721823	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	7599	4721823	76473387	6923	30874											
PLD2	5338	broad.mit.edu	37	chr17	4722429	4722429	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgcgggcttcgtacacacGgagagctgggcgggcacccc	15	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:4722429G>T	uc002fzc.2	+	22	2325	c.2224G>T	c.(2224-2226)GGA>TGA	p.G742*	PLD2_uc002fzd.2_Nonsense_Mutation_p.G742*	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	742	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)	TCGTACACACGGAGAGCTGGG	0.592													T	4722429	G	T	4722429	4	4	27	1	0	0	0	0	0	1	0	0	12046	1117	39	5	2306	5	PLD2	17	4722429	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	606	4722429	76472781	6924	30875											
MINK1	50488	broad.mit.edu	37	chr17	4796870	4796870	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggcgggccagcagaggggAgcagagatacccctgggggc	19	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:4796870A>C	uc010vsl.1	+	21	2738	c.2542A>C	c.(2542-2544)AGC>CGC	p.S848R	MINK1_uc010vsk.1_Missense_Mutation_p.S819R|MINK1_uc010vsm.1_Missense_Mutation_p.S828R|MINK1_uc010vsn.1_Missense_Mutation_p.S811R|MINK1_uc010vso.1_Missense_Mutation_p.S756R|MINK1_uc010vsp.1_Missense_Mutation_p.S309R	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	848					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						AGCAGAGGGGAGCAGAGATAC	0.672													C	4796870	A	C	4796870	3	2	27	1	0	0	0	0	1	0	0	0	9587	304	11	5	2391	5	MINK1	17	4796870	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	74441	4796870	76398340	6925	30876											
RNF167	26001	broad.mit.edu	37	chr17	4848061	4848061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcagacccggaagacctGccccatttgcaagcagcctg	9	16	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:4848061G>A	uc002fzq.2	+	11	1219	c.803G>A	c.(802-804)TGC>TAC	p.C268Y	RNF167_uc002fzr.2_Missense_Mutation_p.C268Y|RNF167_uc002fzs.2_Missense_Mutation_p.C268Y|RNF167_uc002fzt.2_Missense_Mutation_p.C268Y|RNF167_uc002fzu.2_Missense_Mutation_p.C267Y|RNF167_uc002fzv.2_Missense_Mutation_p.C233Y|RNF167_uc002fzx.2_Missense_Mutation_p.C232Y|RNF167_uc002fzy.2_Missense_Mutation_p.C67Y	NM_015528	NP_056343	Q9H6Y7	RN167_HUMAN	ring finger protein 167 precursor	268	RING-type; atypical.				negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						CGGAAGACCTGCCCCATTTGC	0.612													A	4848061	G	A	4848061	3	1	27	1	0	0	0	0	1	0	0	0	13458	1319	46	2	837	2	RNF167	17	4848061	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	51191	4848061	76347149	6926	30877											
CAMTA2	23125	broad.mit.edu	37	chr17	4883808	4883808	+	Frame_Shift_Del	DEL	G	G	-													ctatcagtggaggaggctctGgggggtgagcgtgggggata							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:4883807_4883807TG>T	uc010cku.2	-	8	1291	c.879_879CA>A	c.(877-879)ccafs	p.P293fs	CAMTA2_uc002gag.2_Frame_Shift_Del_p.P269fs|CAMTA2_uc002gah.2_Frame_Shift_Del_p.P270fs|CAMTA2_uc002gai.2_Frame_Shift_Del_p.P272fs|CAMTA2_uc010ckv.1_5'UTR|CAMTA2_uc010vsu.2_Frame_Shift_Del_p.P83fs	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	270	Ser-rich.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GAGGAGGCTCTGGGGGGTGAG	0.582											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	4883808	G	-	4883808	7	5	27	1	0	1	0	1	0	0	0	0	2614	1348	47	0	2909	0	CAMTA2	17	4883808	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	35747	4883808	76311402	6927	30878											
KIF1C	10749	broad.mit.edu	37	chr17	4905895	4905895	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaattggctgtgacctcctAcgcagacattgctgacctca	8	13	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:4905895A>G	uc002gan.1	+	7	892	c.566A>G	c.(565-567)TAC>TGC	p.Y189C		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	189	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						GTGACCTCCTACGCAGACATT	0.607													G	4905895	A	G	4905895	3	3	27	1	0	0	0	0	1	0	0	0	8285	391	14	3	584	3	KIF1C	17	4905895	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	22087	4905895	76289315	6928	30879											
GPR172B	55065	broad.mit.edu	37	chr17	4937093	4937093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatcccagttgaagttcagGccctgagccccctgtggtta	12	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:4937093G>A	uc002gap.3	-	3	1404	c.691C>T	c.(691-693)CCT>TCT	p.P231S	GPR172B_uc002gao.3_Missense_Mutation_p.P231S|GPR172B_uc010ckw.2_Missense_Mutation_p.P109S|GPR172B_uc010ckx.2_Missense_Mutation_p.P231S	NM_001104577	NP_001098047	Q9NWF4	RFT_HUMAN	G protein-coupled receptor 172B precursor	231						integral to plasma membrane	receptor activity|riboflavin transporter activity				0						TGAAGTTCAGGCCCTGAGCCC	0.602													A	4937093	G	A	4937093	3	1	27	1	0	0	0	0	1	0	0	0	6670	1203	42	2	667	2	GPR172B	17	4937093	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	31198	4937093	76258117	6929	30880											
USP6	9098	broad.mit.edu	37	chr17	5039162	5039162	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcctcctttatctgccTgaggaggacgcattctgggc	11	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:5039162T>C	uc002gau.1	+	17	2833	c.603T>C	c.(601-603)CCT>CCC	p.P201P	USP6_uc002gav.1_Silent_p.P201P|USP6_uc010ckz.1_5'UTR|uc002gba.2_5'Flank|uc002gbb.2_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	201	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						TTTATCTGCCTGAGGAGGACG	0.617			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								C	5039162	T	C	5039162	2	2	27	1	0	0	0	0	0	0	0	1	17083	1567	55	3		3	USP6	17	5039162	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	102069	5039162	76156048	6930	30881											
USP6	9098	broad.mit.edu	37	chr17	5041418	5041418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatccaccctgtccctagagCgcctcatgaagacatccagg	8	15	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:5041418C>T	uc002gau.1	+	21	3158	c.928C>T	c.(928-930)CGC>TGC	p.R310C	USP6_uc002gav.1_Missense_Mutation_p.R310C|USP6_uc010ckz.1_5'UTR|uc002gbd.2_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	310					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						GTCCCTAGAGCGCCTCATGAA	0.572			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								T	5041418	C	T	5041418	3	4	27	1	0	0	0	0	1	0	0	0	17083	768	27	1	974	1	USP6	17	5041418	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2256	5041418	76153792	6931	30882											
ZNF594	84622	broad.mit.edu	37	chr17	5085839	5085839	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaaagccctaccacactgAttacaccaataagctttcgc	6	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:5085839A>G	uc010cla.1	-	2	1869	c.1713T>C	c.(1711-1713)AAT>AAC	p.N571N		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	571	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						TACCACACTGATTACACCAAT	0.443													G	5085839	A	G	5085839	2	3	27	1	0	0	0	0	0	0	0	1	18021	330	12	3		3	ZNF594	17	5085839	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	44421	5085839	76109371	6932	30883											
RABEP1	9135	broad.mit.edu	37	chr17	5276735	5276735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcagaagacttcatcctcCcagacactacagaggtaact	7	12	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:5276735C>A	uc002gbm.3	+	13	2235	c.2011C>A	c.(2011-2013)CCA>ACA	p.P671T	RABEP1_uc010clc.1_Missense_Mutation_p.P664T|RABEP1_uc010cld.1_Missense_Mutation_p.P628T|RABEP1_uc010vsw.1_Missense_Mutation_p.P628T|RABEP1_uc002gbl.3_Missense_Mutation_p.P671T|NUP88_uc002gbn.2_Intron	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	671	Potential.				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2						CTTCATCCTCCCAGACACTAC	0.393													A	5276735	C	A	5276735	3	1	27	1	0	0	0	0	1	0	0	0	12961	623	22	5	2061	5	RABEP1	17	5276735	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	190896	5276735	75918475	6933	30884											
C1QBP	708	broad.mit.edu	37	chr17	5338255	5338255	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accatcaaatgttggtgggaTgctgttgttaatgttgaaag	12	4	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:5338255T>C	uc002gby.1	-	3	493	c.415A>G	c.(415-417)ATC>GTC	p.I139V		NM_001212	NP_001203	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding	139					blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane				ovary(1)	1						GTTGGTGGGATGCTGTTGTTA	0.443													C	5338255	T	C	5338255	3	2	27	1	0	0	0	0	1	0	0	0	1956	1464	51	3	449	3	C1QBP	17	5338255	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	61520	5338255	75856955	6934	30885											
NLRP1	22861	broad.mit.edu	37	chr17	5436169	5436169	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttcttttctttgtcaactAcctcagtagccacaggcccc	6	14	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:5436169A>G	uc002gci.2	-	11	3824	c.3269T>C	c.(3268-3270)GTA>GCA	p.V1090A	NLRP1_uc002gcg.1_Missense_Mutation_p.V1094A|NLRP1_uc002gck.2_Missense_Mutation_p.V1090A|NLRP1_uc002gcj.2_Missense_Mutation_p.V1060A|NLRP1_uc002gcl.2_Missense_Mutation_p.V1060A|NLRP1_uc002gch.3_Missense_Mutation_p.V1090A|NLRP1_uc010clh.2_Missense_Mutation_p.V1090A	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	1090					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				TTTGTCAACTACCTCAGTAGC	0.612													G	5436169	A	G	5436169	3	3	27	1	0	0	0	0	1	0	0	0	10471	391	14	3	1243	3	NLRP1	17	5436169	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	97914	5436169	75759041	6935	30886											
NLRP1	22861	broad.mit.edu	37	chr17	5462008	5462008	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaataggaaacgtgtggTtgatgccccaaacaggccat	11	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:5462008T>C	uc002gci.2	-	4	2563	c.2008A>G	c.(2008-2010)ACC>GCC	p.T670A	NLRP1_uc002gcg.1_Missense_Mutation_p.T670A|NLRP1_uc002gck.2_Missense_Mutation_p.T670A|NLRP1_uc002gcj.2_Missense_Mutation_p.T670A|NLRP1_uc002gcl.2_Missense_Mutation_p.T670A|NLRP1_uc002gch.3_Missense_Mutation_p.T670A|NLRP1_uc010clh.2_Missense_Mutation_p.T670A	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	670					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				AAACGTGTGGTTGATGCCCCA	0.483													C	5462008	T	C	5462008	3	2	27	1	0	0	0	0	1	0	0	0	10471	1725	60	3	2544	3	NLRP1	17	5462008	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	25839	5462008	75733202	6936	30887											
WSCD1	23302	broad.mit.edu	37	chr17	5984004	5984004	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaacctttcttccgactccAgaagtttctccgccgaacac	5	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:5984004A>G	uc010cli.2	+	2	405	c.26A>G	c.(25-27)CAG>CGG	p.Q9R	WSCD1_uc002gcn.2_Missense_Mutation_p.Q9R|WSCD1_uc002gco.2_Missense_Mutation_p.Q9R|WSCD1_uc010clj.2_5'UTR	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	WSC domain containing 1	9						integral to membrane	sulfotransferase activity				0						TTCCGACTCCAGAAGTTTCTC	0.662													G	5984004	A	G	5984004	3	3	27	1	0	0	0	0	1	0	0	0	17403	188	7	3	28	3	WSCD1	17	5984004	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	521996	5984004	75211206	6937	30888											
WSCD1	23302	broad.mit.edu	37	chr17	6021338	6021338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaaaggaccactggcggaGccgacgcaccatctgtgtca	12	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:6021338G>A	uc010cli.2	+	8	1584	c.1205G>A	c.(1204-1206)AGC>AAC	p.S402N	WSCD1_uc002gcn.2_Missense_Mutation_p.S402N|WSCD1_uc002gco.2_Missense_Mutation_p.S402N|WSCD1_uc010clj.2_Missense_Mutation_p.S93N	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	WSC domain containing 1	402						integral to membrane	sulfotransferase activity				0						CACTGGCGGAGCCGACGCACC	0.552													A	6021338	G	A	6021338	3	1	27	1	0	0	0	0	1	0	0	0	17403	971	34	2	1231	2	WSCD1	17	6021338	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	37334	6021338	75173872	6938	30889											
AIPL1	23746	broad.mit.edu	37	chr17	6329092	6329092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggtccgccttggcctcGgcctcattccacacctctgc	10	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:6329092G>A	uc002gcp.2	-	6	938	c.843C>T	c.(841-843)GCC>GCT	p.A281A	AIPL1_uc002gcq.2_Silent_p.A221A|AIPL1_uc002gcr.2_Silent_p.A218A|AIPL1_uc010clk.2_Silent_p.A259A|AIPL1_uc010cll.2_Silent_p.A257A|AIPL1_uc002gcs.2_3'UTR	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting	281	TPR 3.				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding				0				COAD - Colon adenocarcinoma(228;0.141)		CCTTGGCCTCGGCCTCATTCC	0.652													A	6329092	G	A	6329092	2	1	27	1	0	0	0	0	0	0	0	1	436	1103	39	1		1	AIPL1	17	6329092	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	307754	6329092	74866118	6939	30890											
PITPNM3	83394	broad.mit.edu	37	chr17	6377778	6377778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggcagcaccgtcctcCgcatggccaggaccaggccc	12	19	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:6377778C>T	uc002gdd.3	-	10	1383	c.1232G>A	c.(1231-1233)CGG>CAG	p.R411Q	PITPNM3_uc010cln.2_Missense_Mutation_p.R375Q|PITPNM3_uc010clm.2_5'Flank|PITPNM3_uc002gdc.3_Missense_Mutation_p.R2Q	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	411	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CACCGTCCTCCGCATGGCCAG	0.672													T	6377778	C	T	6377778	3	4	27	1	0	0	0	0	1	0	0	0	11952	652	23	1	1736	1	PITPNM3	17	6377778	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	48686	6377778	74817432	6940	30891											
FBXO39	162517	broad.mit.edu	37	chr17	6683582	6683582	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaatctctttccatccAatacctggagctggaccgcc	7	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:6683582A>G	uc010vtg.1	+	2	515	c.395A>G	c.(394-396)CAA>CGA	p.Q132R		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	F-box protein 39	132										ovary(1)|skin(1)	2						CTTTCCATCCAATACCTGGAG	0.502													G	6683582	A	G	6683582	3	3	27	1	0	0	0	0	1	0	0	0	5747	130	5	3	397	3	FBXO39	17	6683582	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	305804	6683582	74511628	6941	30892											
ALOX12	239	broad.mit.edu	37	chr17	6909216	6909216	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggccatgtacagttgctcCgtcgggcggcagctcagctg	16	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:6909216C>A	uc002gdx.3	+	10	1341	c.1288C>A	c.(1288-1290)CGT>AGT	p.R430S	uc002gdy.1_Intron	NM_000697	NP_000688	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	430	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			central_nervous_system(1)	1						ACAGTTGCTCCGTCGGGCGGC	0.617													A	6909216	C	A	6909216	3	1	27	1	0	0	0	0	1	0	0	0	536	652	23	5	1326	5	ALOX12	17	6909216	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	225634	6909216	74285994	6942	30893											
RNASEK	440400	broad.mit.edu	37	chr17	6916011	6916011	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcccttctttatggcgtcGctcctgtgctgtgggccgaa	11	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:6916011G>T	uc002gea.2	+	1	214	c.9G>T	c.(7-9)TCG>TCT	p.S3S	uc002gdy.1_5'Flank|C17orf49_uc002geb.3_5'UTR|C17orf49_uc002gec.2_5'UTR|C17orf49_uc002ged.2_5'Flank|C17orf49_uc002gee.2_5'Flank|C17orf49_uc010vti.1_5'Flank	NM_001004333	NP_001004333	Q6P5S7	RNK_HUMAN	ribonuclease kappa	3					rRNA transcription	integral to membrane	endoribonuclease activity				0						TTATGGCGTCGCTCCTGTGCT	0.677													T	6916011	G	T	6916011	2	4	27	1	0	0	0	0	0	0	0	1	13415	1074	38	5		5	RNASEK	17	6916011	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	6795	6916011	74279199	6943	30894											
BCL6B	255877	broad.mit.edu	37	chr17	6927858	6927858	+	Frame_Shift_Del	DEL	C	C	-													tctcgaagctgcagtcaaggCccccccagtccagccagccc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:6927857_6927857GC>G	uc010clt.1	+	3	601	c.539_539GC>G	c.(538-540)ggcfs	p.G180fs	BCL6B_uc002geg.2_Frame_Shift_Del_p.G180fs	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	180	Pro-rich.					nucleus	zinc ion binding	p.S183fs*6(1)		skin(1)	1						TGCAGTCAAGGCCCCCCCAGT	0.617													-	6927858	C	-	6927858	7	5	27	1	0	1	0	1	0	0	0	0	1377	726	26	0	550	0	BCL6B	17	6927858	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	11847	6927858	74267352	6944	30895											
NEURL4	84461	broad.mit.edu	37	chr17	7229645	7229645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attggtcaggattccacagcCgctcatcatgatggtgcctg	11	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:7229645C>T	uc002gga.1	-	6	1229	c.1222G>A	c.(1222-1224)GGC>AGC	p.G408S	NEURL4_uc002ggb.1_Missense_Mutation_p.G408S|NEURL4_uc002ggc.1_5'UTR	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	408	NHR 2.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						ATTCCACAGCCGCTCATCATG	0.637													T	7229645	C	T	7229645	3	4	27	1	0	0	0	0	1	0	0	0	10347	652	23	1	3562	1	NEURL4	17	7229645	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	301787	7229645	73965565	6945	30896											
TNK1	8711	broad.mit.edu	37	chr17	7286169	7286169	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaggtggagctggagacCtggtctctctagggcctacc	14	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:7286169C>A	uc002ggi.3	+	2	84	c.-76C>A	c.(-78--74)ACCTG>ACATG		TNK1_uc002ggj.3_Translation_Start_Site|TNK1_uc010cmf.2_RNA	NM_003985	NP_003976	Q13470	TNK1_HUMAN	tyrosine kinase, non-receptor, 1						protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(122;0.157)				AGCTGGAGACCTGGTCTCTCT	0.562													A	7286169	C	A	7286169	1	1	27	1	0	0	0	0	0	0	0	0	16314	696	24	5		5	TNK1	17	7286169	Translation_Start_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	56524	7286169	73909041	6946	30897											
CHRNB1	1140	broad.mit.edu	37	chr17	7351977	7351977	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctaggggagggagggaaggAcagcgccaggaagtcatctt	17	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:7351977A>T	uc002ghb.2	+	7	731	c.690A>T	c.(688-690)GGA>GGT	p.G230G	CHRNB1_uc010vty.1_Silent_p.G158G|CHRNB1_uc010vtz.1_Silent_p.G64G	NM_000747	NP_000738	P11230	ACHB_HUMAN	nicotinic acetylcholine receptor beta 1 subunit	230	Extracellular (Potential).				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			ovary(2)	2		Prostate(122;0.157)				GGAGGGAAGGACAGCGCCAGG	0.572													T	7351977	A	T	7351977	2	4	27	1	0	0	0	0	0	0	0	1	3390	262	10	5		5	CHRNB1	17	7351977	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	65808	7351977	73843233	6947	30898											
EIF4A1	1973	broad.mit.edu	37	chr17	7468286	7468286	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccaccaggcatcttggaCgaattccttcaaacgtatgg	8	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:7468286C>T	uc002gho.1	+	1	11	c.-1314C>T	c.(-1316--1312)GACGA>GATGA		SENP3_uc002ghm.2_Silent_p.D322D|SENP3_uc002ghn.1_Silent_p.D157D	NM_001416	NP_001407	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A						nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			ovary(1)	1						GCATCTTGGACGAATTCCTTC	0.547													T	7468286	C	T	7468286	1	4	27	1	0	0	0	0	0	0	0	0	5024	535	19	1		1	EIF4A1	17	7468286	Translation_Start_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	116309	7468286	73726924	6948	30899											
WRAP53	55135	broad.mit.edu	37	chr17	7604986	7604986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccccaggatgagctgacGgcagcccattcgctctgctt	10	15	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:7604986G>A	uc010vuh.1	+	7	989	c.834G>A	c.(832-834)ACG>ACA	p.T278T	WRAP53_uc010vui.1_Silent_p.T278T|WRAP53_uc002gip.2_Silent_p.T278T|WRAP53_uc002gir.2_Silent_p.T278T|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Silent_p.T245T|WRAP53_uc010vuj.1_Silent_p.T59T	NM_001143990	NP_001137462	Q9BUR4	WAP53_HUMAN	WD repeat domain 79 isoform 2	278	WD 3.				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding				0						ATGAGCTGACGGCAGCCCATT	0.617													A	7604986	G	A	7604986	2	1	27	1	0	0	0	0	0	0	0	1	17397	1103	39	1		1	WRAP53	17	7604986	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	136700	7604986	73590224	6949	30900											
DNAH2	146754	broad.mit.edu	37	chr17	7710589	7710589	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctgatatcatcggccgCgtctccctggctgccaagtc	10	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:7710589C>T	uc002giu.1	+	61	9578	c.9564C>T	c.(9562-9564)CGC>CGT	p.R3188R	DNAH2_uc010cnm.1_Silent_p.R126R	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3188	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCATCGGCCGCGTCTCCCTGG	0.597													T	7710589	C	T	7710589	2	4	27	1	0	0	0	0	0	0	0	1	4602	755	27	1		1	DNAH2	17	7710589	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	105603	7710589	73484621	6950	30901											
DNAH2	146754	broad.mit.edu	37	chr17	7727218	7727218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctccctgcgccaggaccGcgtggccttctgcgtgacct	12	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:7727218G>A	uc002giu.1	+	74	11410	c.11396G>A	c.(11395-11397)CGC>CAC	p.R3799H	DNAH2_uc010cnm.1_Missense_Mutation_p.R737H	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3799					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGCCAGGACCGCGTGGCCTTC	0.587													A	7727218	G	A	7727218	3	1	27	1	0	0	0	0	1	0	0	0	4602	1087	38	1	11690	1	DNAH2	17	7727218	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	16629	7727218	73467992	6951	30902											
DNAH2	146754	broad.mit.edu	37	chr17	7727556	7727556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatggcccagcgcttccacGccctgtccctgggccagggc	13	18	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:7727556G>A	uc002giu.1	+	75	11610	c.11596G>A	c.(11596-11598)GCC>ACC	p.A3866T	DNAH2_uc010cnm.1_Missense_Mutation_p.A804T	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3866	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCGCTTCCACGCCCTGTCCCT	0.662													A	7727556	G	A	7727556	3	1	27	1	0	0	0	0	1	0	0	0	4602	1087	38	1	11894	1	DNAH2	17	7727556	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	338	7727556	73467654	6952	30903											
LSMD1	84316	broad.mit.edu	37	chr17	7760449	7760449	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgaatgcgcatagtcttgTtgagcagcgcctctagctgc	12	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:7760449T>C	uc002giz.2	-	2	248	c.149A>G	c.(148-150)AAC>AGC	p.N50S	LSMD1_uc002gja.2_Missense_Mutation_p.N98S|CYB5D1_uc010cnn.1_5'Flank|CYB5D1_uc002gjb.3_5'Flank			Q9BRA0	LSMD1_HUMAN	RecName: Full=LSM domain-containing protein 1; AltName: Full=Phosphonoformate immuno-associated protein 2;	50	Potential.					cytoplasm|nucleus				ovary(1)	1		all_cancers(10;0.11)|Prostate(122;0.219)				CATAGTCTTGTTGAGCAGCGC	0.642											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	7760449	T	C	7760449	3	2	27	1	0	0	0	0	1	0	0	0	9062	1725	60	3	236	3	LSMD1	17	7760449	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	32893	7760449	73434761	6953	30904											
CHD3	1107	broad.mit.edu	37	chr17	7814196	7814196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtccctacgctacacctcCggggtacggggcggccttca	14	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:7814196C>T	uc002gje.2	+	39	5936	c.5786C>T	c.(5785-5787)CCG>CTG	p.P1929L	CHD3_uc002gjd.2_Missense_Mutation_p.P1988L|CHD3_uc002gjf.2_Missense_Mutation_p.P1895L|CHD3_uc002gjh.2_Missense_Mutation_p.P506L|CHD3_uc002gjj.2_Missense_Mutation_p.P92L	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1929	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				GCTACACCTCCGGGGTACGGG	0.622													T	7814196	C	T	7814196	3	4	27	1	0	0	0	0	1	0	0	0	3326	652	23	1	6221	1	CHD3	17	7814196	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	53747	7814196	73381014	6954	30905											
CNTROB	116840	broad.mit.edu	37	chr17	7842846	7842846	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtaggaggaggaaaggcaaGctctgactctgaggttggag	17	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:7842846G>T	uc002gjq.2	+	9	1862	c.943G>T	c.(943-945)GCT>TCT	p.A315S	CNTROB_uc002gjp.2_Missense_Mutation_p.A315S|CNTROB_uc002gjr.2_Missense_Mutation_p.A217S|CNTROB_uc010vum.1_Missense_Mutation_p.A27S	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	315	Potential.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)				GGAAAGGCAAGCTCTGACTCT	0.572													T	7842846	G	T	7842846	3	4	27	1	0	0	0	0	1	0	0	0	3651	971	34	5	973	5	CNTROB	17	7842846	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	28650	7842846	73352364	6955	30906											
GUCY2D	3000	broad.mit.edu	37	chr17	7906918	7906918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcggctgggcgcgcgtgGccctggtcaccgccccccag	14	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:7906918G>A	uc002gjt.2	+	2	627	c.553G>A	c.(553-555)GCC>ACC	p.A185T		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	185	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GGCGCGCGTGGCCCTGGTCAC	0.746													A	7906918	G	A	7906918	3	1	27	1	0	0	0	0	1	0	0	0	6897	1203	42	2	555	2	GUCY2D	17	7906918	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	64072	7906918	73288292	6956	30907											
GUCY2D	3000	broad.mit.edu	37	chr17	7907379	7907379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacgatgccgtgctcaccCtcacgcgccactgtccctct	7	21	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:7907379C>T	uc002gjt.2	+	3	1005	c.931C>T	c.(931-933)CTC>TTC	p.L311F		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	311	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CGTGCTCACCCTCACGCGCCA	0.667													T	7907379	C	T	7907379	3	4	27	1	0	0	0	0	1	0	0	0	6897	681	24	4	937	4	GUCY2D	17	7907379	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	461	7907379	73287831	6957	30908											
ALOX15B	247	broad.mit.edu	37	chr17	7951813	7951813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgaggggcatccaggagcGgaaccagggcctggtgctgc	17	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:7951813G>A	uc002gju.2	+	14	2077	c.1961G>A	c.(1960-1962)CGG>CAG	p.R654Q	ALOX15B_uc002gjv.2_Missense_Mutation_p.R625Q|ALOX15B_uc002gjw.2_Missense_Mutation_p.R580Q|ALOX15B_uc010vun.1_Missense_Mutation_p.R642Q|ALOX15B_uc010cnp.2_Missense_Mutation_p.R460Q	NM_001141	NP_001132	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, second type	654	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			ovary(1)	1						ATCCAGGAGCGGAACCAGGGC	0.627													A	7951813	G	A	7951813	3	1	27	1	0	0	0	0	1	0	0	0	539	1116	39	1	2015	1	ALOX15B	17	7951813	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	44434	7951813	73243397	6958	30909											
PFAS	5198	broad.mit.edu	37	chr17	8167098	8167098	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtggctgtgcagcttggGgacccaaccctgaatgccct	13	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:8167098G>A	uc002gkr.2	+	15	1776	c.1635G>A	c.(1633-1635)GGG>GGA	p.G545G	PFAS_uc010vuv.1_Silent_p.G121G|PFAS_uc010cnw.1_Intron|PFAS_uc002gks.2_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	545					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGCAGCTTGGGGACCCAACCC	0.597													A	8167098	G	A	8167098	2	1	27	1	0	0	0	0	0	0	0	1	11754	1219	43	4		4	PFAS	17	8167098	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	215285	8167098	73028112	6959	30910											
PFAS	5198	broad.mit.edu	37	chr17	8168393	8168393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtcgccgcccggctggccGtggccgaagccctcaccaac	12	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:8168393G>A	uc002gkr.2	+	18	2371	c.2230G>A	c.(2230-2232)GTG>ATG	p.V744M	PFAS_uc010vuv.1_Missense_Mutation_p.V320M|PFAS_uc002gks.2_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	744					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCGGCTGGCCGTGGCCGAAGC	0.632													A	8168393	G	A	8168393	3	1	27	1	0	0	0	0	1	0	0	0	11754	1145	40	1	2296	1	PFAS	17	8168393	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1295	8168393	73026817	6960	30911											
ARHGEF15	22899	broad.mit.edu	37	chr17	8215626	8215626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcctcgactcccagacttCcccagactcaccttccagca	5	20	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:8215626C>T	uc002glc.2	+	2	390	c.269C>T	c.(268-270)TCC>TTC	p.S90F	ARHGEF15_uc002glb.1_Missense_Mutation_p.S90F|ARHGEF15_uc002gld.2_Missense_Mutation_p.S90F|ARHGEF15_uc010vuw.1_Missense_Mutation_p.S90F	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	90	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						TCCCAGACTTCCCCAGACTCA	0.662													T	8215626	C	T	8215626	3	4	27	1	0	0	0	0	1	0	0	0	898	855	30	4	271	4	ARHGEF15	17	8215626	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	47233	8215626	72979584	6961	30912											
MYH10	4628	broad.mit.edu	37	chr17	8422252	8422252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctttaggaatagcatttgGagttaggatctcatatctgt	9	6	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:8422252G>A	uc002gll.2	-	18	2293	c.2197C>T	c.(2197-2199)CCA>TCA	p.P733S	MYH10_uc002glm.2_Missense_Mutation_p.P764S|MYH10_uc010cnx.2_Missense_Mutation_p.P742S	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	733	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						ATAGCATTTGGAGTTAGGATC	0.348													A	8422252	G	A	8422252	3	1	27	1	0	0	0	0	1	0	0	0	10030	1174	41	4	3829	4	MYH10	17	8422252	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	206626	8422252	72772958	6962	30913											
MYH10	4628	broad.mit.edu	37	chr17	8526464	8526464	+	Frame_Shift_Del	DEL	T	T	-													ctgatggaatccacactagcTttttagctgtccaatcagct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:8526463_8526463CT>C	uc002glm.3	-	1	198	c.102_102AG>G	c.(100-102)aagfs	p.K34fs	MYH10_uc002gll.3_Frame_Shift_Del_p.K34fs|MYH10_uc010cnx.3_Frame_Shift_Del_p.K34fs	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	34	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCACACTAGCTTTTTAGCTG	0.488													-	8526464	T	-	8526464	7	5	27	1	0	1	0	1	0	0	0	0	10030	1609	56	0	5989	0	MYH10	17	8526464	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	104212	8526464	72668746	6963	30914											
USP43	124739	broad.mit.edu	37	chr17	9586272	9586272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtcagggcagcaggctaGcaggtatgtttcactttatt	14	7	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:9586272G>A	uc010cod.2	+	7	1238	c.1238G>A	c.(1237-1239)AGC>AAC	p.S413N	USP43_uc002gma.3_Missense_Mutation_p.S102N|USP43_uc010vva.1_Missense_Mutation_p.S413N|USP43_uc010coe.2_Missense_Mutation_p.S210N	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	413					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CAGCAGGCTAGCAGGTATGTT	0.483													A	9586272	G	A	9586272	3	1	27	1	0	0	0	0	1	0	0	0	17071	971	34	2	1264	2	USP43	17	9586272	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1059808	9586272	71608938	6964	30915											
MYH13	8735	broad.mit.edu	37	chr17	10227392	10227392	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcgtcaaggtcagctccaGgtcatcaatgtctctcttga	8	11	6	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:10227392G>T	uc002gmk.1	-	23	2971	c.2881C>A	c.(2881-2883)CTG>ATG	p.L961M	MYH13_uc010vve.1_Missense_Mutation_p.L59M	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	961	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GTCAGCTCCAGGTCATCAATG	0.468													T	10227392	G	T	10227392	3	4	27	1	0	0	0	0	1	0	0	0	10032	991	35	5	3011	5	MYH13	17	10227392	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	641120	10227392	70967818	6965	30916											
MYH13	8735	broad.mit.edu	37	chr17	10261071	10261071	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaatcttgaggagttgtcaTtcctcacagtcttggcattt	8	9	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:10261071T>C	uc002gmk.1	-	8	809	c.719A>G	c.(718-720)AAT>AGT	p.N240S		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	240	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GGAGTTGTCATTCCTCACAGT	0.448													C	10261071	T	C	10261071	3	2	27	1	0	0	0	0	1	0	0	0	10032	1493	52	3	5233	3	MYH13	17	10261071	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	33679	10261071	70934139	6966	30917											
MYH8	4626	broad.mit.edu	37	chr17	10322295	10322295	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccatgtcctcaattttgTcatatttcggagggttcata	9	8	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:10322295T>C	uc002gmm.2	-	4	358	c.263A>G	c.(262-264)GAC>GGC	p.D88G	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	88	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						CTCAATTTTGTCATATTTCGG	0.433									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				C	10322295	T	C	10322295	3	2	27	1	0	0	0	0	1	0	0	0	10041	1667	58	3	5698	3	MYH8	17	10322295	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	61224	10322295	70872915	6967	30918											
MYH8	4626	broad.mit.edu	37	chr17	10323492	10323492	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttttctgattttcgaaggTagggagcagcttcgccaaaa	10	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:10323492T>C	uc002gmm.2	-	3	148	c.53A>G	c.(52-54)TAC>TGC	p.Y18C	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	18	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						TTTTCGAAGGTAGGGAGCAGC	0.493									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				C	10323492	T	C	10323492	3	2	27	1	0	0	0	0	1	0	0	0	10041	1638	57	3	5912	3	MYH8	17	10323492	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1197	10323492	70871718	6968	30919											
MYH4	4622	broad.mit.edu	37	chr17	10358102	10358102	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attcatgaaagcacggatgtTgtactgaatgcagaagatgg	12	5	1	4	rs112990048		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:10358102T>A	uc002gmn.2	-	22	2572	c.2461A>T	c.(2461-2463)AAC>TAC	p.N821Y	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	821					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						GCACGGATGTTGTACTGAATG	0.428													A	10358102	T	A	10358102	3	1	27	1	0	0	0	0	1	0	0	0	10037	1812	63	5	3434	5	MYH4	17	10358102	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	34610	10358102	70837108	6969	30920											
MYH1	4619	broad.mit.edu	37	chr17	10398373	10398373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatccgctccagatgggCgctggtgtcctgttccttct	10	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:10398373C>T	uc002gmo.2	-	37	5435	c.5341G>A	c.(5341-5343)GCC>ACC	p.A1781T	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1781	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						TCCAGATGGGCGCTGGTGTCC	0.517													T	10398373	C	T	10398373	3	4	27	1	0	0	0	0	1	0	0	0	10029	768	27	1	494	1	MYH1	17	10398373	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	40271	10398373	70796837	6970	30921											
MYH1	4619	broad.mit.edu	37	chr17	10402051	10402051	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctctctgtagctcggccTtggcttcctgctcctcctca	8	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:10402051T>C	uc002gmo.2	-	30	4167	c.4073A>G	c.(4072-4074)AAG>AGG	p.K1358R	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1358	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						TAGCTCGGCCTTGGCTTCCTG	0.582													C	10402051	T	C	10402051	3	2	27	1	0	0	0	0	1	0	0	0	10029	1609	56	3	1790	3	MYH1	17	10402051	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3678	10402051	70793159	6971	30922											
MYH1	4619	broad.mit.edu	37	chr17	10404716	10404716	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttcttccagcctctcgctgAtctcctccagctcccgggag	8	18	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:10404716A>T	uc002gmo.2	-	27	3543	c.3449T>A	c.(3448-3450)ATC>AAC	p.I1150N	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1150	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						CCTCTCGCTGATCTCCTCCAG	0.622													T	10404716	A	T	10404716	3	4	27	1	0	0	0	0	1	0	0	0	10029	333	12	5	2426	5	MYH1	17	10404716	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2665	10404716	70790494	6972	30923											
MYH2	4620	broad.mit.edu	37	chr17	10448771	10448771	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacctcgggcttatacacagGcagccacttgtaggggttga	12	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:10448771G>T	uc010coi.2	-	5	525	c.397C>A	c.(397-399)CCT>ACT	p.P133T	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.P133T|MYH2_uc010coj.2_Missense_Mutation_p.P133T	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	133	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						TTATACACAGGCAGCCACTTG	0.498													T	10448771	G	T	10448771	3	4	27	1	0	0	0	0	1	0	0	0	10035	1203	42	5	5572	5	MYH2	17	10448771	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	44055	10448771	70746439	6973	30924											
MYH3	4621	broad.mit.edu	37	chr17	10539158	10539158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctttttcttccagctgaCgactcagctcacctgtgtcc	6	14	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:10539158C>T	uc002gmq.1	-	28	3946	c.3869G>A	c.(3868-3870)CGT>CAT	p.R1290H		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1290	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TTCCAGCTGACGACTCAGCTC	0.328													T	10539158	C	T	10539158	3	4	27	1	0	0	0	0	1	0	0	0	10036	536	19	1	2005	1	MYH3	17	10539158	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	90387	10539158	70656052	6974	30925											
PIRT	644139	broad.mit.edu	37	chr17	10728777	10728777	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaaaagcaggatggcaccGcccactgacatgataacgat	10	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:10728777G>A	uc010col.2	-	2	481	c.186C>T	c.(184-186)GGC>GGT	p.G62G		NM_001101387	NP_001094857	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of	62	Helical; (Potential).					integral to membrane				ovary(1)	1						GGATGGCACCGCCCACTGACA	0.567													A	10728777	G	A	10728777	2	1	27	1	0	0	0	0	0	0	0	1	11945	1074	38	1		1	PIRT	17	10728777	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	189619	10728777	70466433	6975	30926											
DNAH9	1770	broad.mit.edu	37	chr17	11554567	11554567	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggaggtggaatttccatTagtggaggaagagctgcaaa	15	5	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:11554567T>C	uc002gne.2	+	13	2347	c.2279T>C	c.(2278-2280)TTA>TCA	p.L760S	DNAH9_uc010coo.2_Missense_Mutation_p.L54S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	760	Stem (By similarity).|Potential.				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAATTTCCATTAGTGGAGGAA	0.453													C	11554567	T	C	11554567	3	2	27	1	0	0	0	0	1	0	0	0	4608	1764	61	3	2329	3	DNAH9	17	11554567	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	825790	11554567	69640643	6976	30927											
DNAH9	1770	broad.mit.edu	37	chr17	11572398	11572398	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagtgtaaggcaggacttAccccaatatttgaagcacaa	9	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:11572398A>G	uc002gne.2	+	16	2817	c.2749A>G	c.(2749-2751)ACC>GCC	p.T917A	DNAH9_uc010coo.2_Missense_Mutation_p.T211A	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	917	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCAGGACTTACCCCAATATT	0.428													G	11572398	A	G	11572398	3	3	27	1	0	0	0	0	1	0	0	0	4608	391	14	3	2811	3	DNAH9	17	11572398	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	17831	11572398	69622812	6977	30928											
MYOCD	93649	broad.mit.edu	37	chr17	12626252	12626252	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatgaaaaaattgctctAcgaccagggccactggagct	9	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:12626252A>G	uc002gnn.2	+	5	641	c.342A>G	c.(340-342)CTA>CTG	p.L114L	MYOCD_uc002gno.2_Silent_p.L114L|MYOCD_uc002gnp.1_Silent_p.L18L	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	114	RPEL 3.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AAATTGCTCTACGACCAGGGC	0.468													G	12626252	A	G	12626252	2	3	27	1	0	0	0	0	0	0	0	1	10087	378	14	3		3	MYOCD	17	12626252	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1053854	12626252	68568958	6978	30929											
HS3ST3B1	9953	broad.mit.edu	37	chr17	14204913	14204913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagccgccgccgcccccGccgccggtgaggaggaagct	15	19	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:14204913G>A	uc002goh.1	+	1	408	c.78G>A	c.(76-78)CCG>CCA	p.P26P	MGC12916_uc010vvv.1_5'Flank	NM_006041	NP_006032	Q9Y662	HS3SB_HUMAN	heparan sulfate D-glucosaminyl	26	Cytoplasmic (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		cgccgcccccgccgccggTGA	0.627													A	14204913	G	A	14204913	2	1	27	1	0	0	0	0	0	0	0	1	7366	1074	38	1		1	HS3ST3B1	17	14204913	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1578661	14204913	66990297	6979	30930											
TRIM16	10626	broad.mit.edu	37	chr17	15539514	15539514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcatcacattggcctgggCcttcctcacagcagcaagga	11	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:15539514C>T	uc002gox.2	-	6	1242	c.685G>A	c.(685-687)GCC>ACC	p.A229T	TRIM16_uc002gor.1_Missense_Mutation_p.A229T|TRIM16_uc002gow.2_Missense_Mutation_p.A13T|TRIM16_uc002goy.2_Missense_Mutation_p.A99T	NM_006470	NP_006461	O95361	TRI16_HUMAN	tripartite motif-containing 16	229					histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding			ovary(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		TTGGCCTGGGCCTTCCTCACA	0.592													T	15539514	C	T	15539514	3	4	27	1	0	0	0	0	1	0	0	0	16488	739	26	2	1025	2	TRIM16	17	15539514	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1334601	15539514	65655696	6980	30931											
TTC19	54902	broad.mit.edu	37	chr17	15906111	15906111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaatttgctttcagatggCcaacttagcatttatacggg	9	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:15906111C>T	uc002gph.1	+	4	809	c.791C>T	c.(790-792)GCC>GTC	p.A264V	TTC19_uc010cox.1_RNA	NM_017775	NP_060245	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	143	TPR 1.				cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTTCAGATGGCCAACTTAGCA	0.303													T	15906111	C	T	15906111	3	4	27	1	0	0	0	0	1	0	0	0	16683	739	26	2	805	2	TTC19	17	15906111	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	366597	15906111	65289099	6981	30932											
NCOR1	9611	broad.mit.edu	37	chr17	15968182	15968182	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtaactgtacaatctcAcctggagacatggaagcaga	11	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:15968182A>G	uc002gpo.2	-	34	5341	c.5101_splice	c.e34+1	p.G1701_splice	NCOR1_uc002gpn.2_Splice_Site_p.G1717_splice|NCOR1_uc002gpm.2_Splice_Site_p.G221_splice|NCOR1_uc010vwb.1_Splice_Site_p.G285_splice|NCOR1_uc010coy.2_Splice_Site_p.G609_splice|NCOR1_uc010vwc.1_Splice_Site_p.G511_splice	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1						cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTACAATCTCACCTGGAGACA	0.423													G	15968182	A	G	15968182	5	3	27	1	0	0	0	0	0	0	1	0	10235	173	6	3	2271	3	NCOR1	17	15968182	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	62071	15968182	65227028	6982	30933											
NCOR1	9611	broad.mit.edu	37	chr17	15971261	15971261	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatccaagtgcgtgggcaggTggctccgataaacctcgcct	13	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:15971261T>C	uc002gpo.2	-	32	4928	c.4688A>G	c.(4687-4689)CAC>CGC	p.H1563R	NCOR1_uc002gpn.2_Missense_Mutation_p.H1579R|NCOR1_uc002gpm.2_Missense_Mutation_p.H84R|NCOR1_uc010vwb.1_Missense_Mutation_p.H147R|NCOR1_uc010coy.2_Missense_Mutation_p.H471R|NCOR1_uc010vwc.1_Missense_Mutation_p.H374R	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1563	Interaction with ETO.|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CGTGGGCAGGTGGCTCCGATA	0.527													C	15971261	T	C	15971261	3	2	27	1	0	0	0	0	1	0	0	0	10235	1696	59	3	2694	3	NCOR1	17	15971261	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3079	15971261	65223949	6983	30934											
NCOR1	9611	broad.mit.edu	37	chr17	15973523	15973523	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgagcctctggacatggtgTtttgataactcacaggggtc	13	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:15973523T>C	uc002gpo.2	-	31	4709	c.4469A>G	c.(4468-4470)AAC>AGC	p.N1490S	NCOR1_uc002gpn.2_Missense_Mutation_p.N1506S|NCOR1_uc002gpp.1_Missense_Mutation_p.N1397S|NCOR1_uc002gpm.2_5'Flank|NCOR1_uc010vwb.1_Missense_Mutation_p.N74S|NCOR1_uc010coy.2_Missense_Mutation_p.N398S|NCOR1_uc010vwc.1_Missense_Mutation_p.N301S	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1490	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGACATGGTGTTTTGATAACT	0.428													C	15973523	T	C	15973523	3	2	27	1	0	0	0	0	1	0	0	0	10235	1725	60	3	2917	3	NCOR1	17	15973523	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2262	15973523	65221687	6984	30935											
NCOR1	9611	broad.mit.edu	37	chr17	16022749	16022749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatttaccttttttagcaaCttccatttcttcttctgtcc	2	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:16022749C>T	uc002gpo.2	-	17	2143	c.1903G>A	c.(1903-1905)GTT>ATT	p.V635I	NCOR1_uc002gpn.2_Missense_Mutation_p.V635I|NCOR1_uc002gpp.1_Missense_Mutation_p.V526I|NCOR1_uc002gpr.2_Missense_Mutation_p.V526I	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	635	SANT 2.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTTTTAGCAACTTCCATTTCT	0.343													T	16022749	C	T	16022749	3	4	27	1	0	0	0	0	1	0	0	0	10235	565	20	4	5539	4	NCOR1	17	16022749	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	49226	16022749	65172461	6985	30936											
NCOR1	9611	broad.mit.edu	37	chr17	16024445	16024445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactggcagctgcagcttcGtttgtcatggacctggtgat	13	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:16024445G>A	uc002gpo.2	-	16	2013	c.1773C>T	c.(1771-1773)AAC>AAT	p.N591N	NCOR1_uc002gpn.2_Silent_p.N591N|NCOR1_uc002gpp.1_Silent_p.N482N|NCOR1_uc002gpr.2_Silent_p.N482N	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	591					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTGCAGCTTCGTTTGTCATGG	0.607													A	16024445	G	A	16024445	2	1	27	1	0	0	0	0	0	0	0	1	10235	1136	40	1		1	NCOR1	17	16024445	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1696	16024445	65170765	6986	30937											
NCOR1	9611	broad.mit.edu	37	chr17	16075115	16075115	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtaagagaacaaatatttAccttcttagcatctgcagaa	8	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:16075115A>G	uc002gpo.2	-	4	675	c.435_splice	c.e4+1	p.K145_splice	NCOR1_uc002gpn.2_Splice_Site_p.K145_splice|NCOR1_uc002gpp.1_Intron|NCOR1_uc002gpr.2_Intron|NCOR1_uc002gps.1_Splice_Site_p.K145_splice|NCOR1_uc010coz.1_Splice_Site|NCOR1_uc010cpb.1_Splice_Site_p.K145_splice|NCOR1_uc010cpa.1_Splice_Site_p.K145_splice|NCOR1_uc002gpu.2_Splice_Site_p.K145_splice	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1						cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACAAATATTTACCTTCTTAGC	0.438													G	16075115	A	G	16075115	5	3	27	1	0	0	0	0	0	0	1	0	10235	405	14	3	7057	3	NCOR1	17	16075115	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	50670	16075115	65120095	6987	30938											
CENPV	201161	broad.mit.edu	37	chr17	16246220	16246220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcagtgaccatactccGcacagtgccctcatccaggc	7	17	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:16246220G>A	uc002gpw.2	-	5	792	c.730C>T	c.(730-732)CGG>TGG	p.R244W		NM_181716	NP_859067	Q7Z7K6	CENPV_HUMAN	proline rich 6	247					cell division|centromeric heterochromatin formation|mitosis|positive regulation of cytokinesis|regulation of chromosome organization	condensed chromosome kinetochore|cytoplasm|nucleus|spindle midzone	carbon-sulfur lyase activity				0						ACCATACTCCGCACAGTGCCC	0.532													A	16246220	G	A	16246220	3	1	27	1	0	0	0	0	1	0	0	0	3243	1086	38	1	92	1	CENPV	17	16246220	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	171105	16246220	64948990	6988	30939											
TRPV2	51393	broad.mit.edu	37	chr17	16335120	16335120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctgcgggacctgctgcGcttccttctgatctacttag	9	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:16335120G>A	uc002gpy.2	+	11	1977	c.1610G>A	c.(1609-1611)CGC>CAC	p.R537H	TRPV2_uc002gpz.2_Missense_Mutation_p.R107H	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	537	Cytoplasmic (Potential).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GACCTGCTGCGCTTCCTTCTG	0.622													A	16335120	G	A	16335120	3	1	27	1	0	0	0	0	1	0	0	0	16593	1087	38	1	1648	1	TRPV2	17	16335120	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	88900	16335120	64860090	6989	30940											
ZNF624	57547	broad.mit.edu	37	chr17	16527781	16527781	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaatcttcagaaatagccTttgttcgtgtagccttcttg	7	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:16527781T>G	uc010cpi.1	-	6	502	c.419A>C	c.(418-420)AAG>ACG	p.K140T		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGAAATAGCCTTTGTTCGTGT	0.428													G	16527781	T	G	16527781	3	3	27	1	0	0	0	0	1	0	0	0	18045	1609	56	5	2182	5	ZNF624	17	16527781	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	192661	16527781	64667429	6990	30941											
CCDC144A	9720	broad.mit.edu	37	chr17	16612506	16612506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatccatccatactatcatCcatactctgggtcccaggaa	5	14	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:16612506C>T	uc002gqk.1	+	5	1211	c.1135C>T	c.(1135-1137)CCA>TCA	p.P379S	CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	379											0						ATACTATCATCCATACTCTGG	0.383													T	16612506	C	T	16612506	3	4	27	1	0	0	0	0	1	0	0	0	2777	855	30	4	1153	4	CCDC144A	17	16612506	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	84725	16612506	64582704	6991	30942											
COPS3	8533	broad.mit.edu	37	chr17	17179427	17179427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagatgggataagttcttcGcaaggagttccccactcttg	10	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:17179427G>A	uc002grd.2	-	2	198	c.107C>T	c.(106-108)GCG>GTG	p.A36V	COPS3_uc010vwv.1_Missense_Mutation_p.A16V|COPS3_uc010vww.1_5'UTR	NM_003653	NP_003644	Q9UNS2	CSN3_HUMAN	COP9 constitutive photomorphogenic homolog	36					cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			skin(1)	1						TAAGTTCTTCGCAAGGAGTTC	0.458													A	17179427	G	A	17179427	3	1	27	1	0	0	0	0	1	0	0	0	3734	1087	38	1	1208	1	COPS3	17	17179427	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	566921	17179427	64015783	6992	30943											
PEMT	10400	broad.mit.edu	37	chr17	17412796	17412796	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttccccagtacatggggTtgtccaggatgttgaagggg	15	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:17412796T>C	uc002grj.2	-	5	486	c.419A>G	c.(418-420)AAC>AGC	p.N140S	PEMT_uc002grk.2_Missense_Mutation_p.N140S|PEMT_uc002grl.2_Missense_Mutation_p.N177S|PEMT_uc010vwx.1_Missense_Mutation_p.N177S	NM_148173	NP_680478	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	140					cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity				0				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		GTACATGGGGTTGTCCAGGAT	0.602													C	17412796	T	C	17412796	3	2	27	1	0	0	0	0	1	0	0	0	11726	1725	60	3	192	3	PEMT	17	17412796	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	233369	17412796	63782414	6993	30944											
RAI1	10743	broad.mit.edu	37	chr17	17697393	17697393	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccctacagccagcagccgctCagcaccggggccttccccgc	10	21	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:17697393C>T	uc002grm.2	+	3	1600	c.1131C>T	c.(1129-1131)CTC>CTT	p.L377L	RAI1_uc002grn.1_Silent_p.L377L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	377						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		AGCAGCCGCTCAGCACCGGGG	0.647													T	17697393	C	T	17697393	2	4	27	1	0	0	0	0	0	0	0	1	13007	813	29	4		4	RAI1	17	17697393	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	284597	17697393	63497817	6994	30945											
SREBF1	6720	broad.mit.edu	37	chr17	17721053	17721053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaggctccgagtcactgCcactgccaccgctgccactg	10	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:17721053C>T	uc002gru.1	-	7	1555	c.1361G>A	c.(1360-1362)GGC>GAC	p.G454D	SREBF1_uc002grp.1_Missense_Mutation_p.A24T|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_Missense_Mutation_p.G200D|SREBF1_uc002grs.1_Missense_Mutation_p.G430D|SREBF1_uc002grt.1_Missense_Mutation_p.G484D|SREBF1_uc010cpp.1_Missense_Mutation_p.G430D|SREBF1_uc010cpq.1_Missense_Mutation_p.G454D	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	454	Gly/Pro/Ser-rich.|Cytoplasmic (Potential).|Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						CGAGTCACTGCCACTGCCACC	0.652													T	17721053	C	T	17721053	3	4	27	1	0	0	0	0	1	0	0	0	15140	739	26	2	2134	2	SREBF1	17	17721053	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	23660	17721053	63474157	6995	30946											
LRRC48	83450	broad.mit.edu	37	chr17	17887240	17887240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgagggcctggagaacctcGcacacctggtctggctgggt	15	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:17887240G>A	uc010vxd.1	+	5	638	c.259G>A	c.(259-261)GCA>ACA	p.A87T	LRRC48_uc002gsa.2_Missense_Mutation_p.A87T|LRRC48_uc010vxc.1_Missense_Mutation_p.A87T|LRRC48_uc002gsb.2_Missense_Mutation_p.A87T	NM_001130090	NP_001123562	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48 isoform a	87	LRR 2.					cytoplasm				pancreas(1)	1	all_neural(463;0.228)					GGAGAACCTCGCACACCTGGT	0.512													A	17887240	G	A	17887240	3	1	27	1	0	0	0	0	1	0	0	0	9005	1087	38	1	265	1	LRRC48	17	17887240	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	166187	17887240	63307970	6996	30947											
DRG2	1819	broad.mit.edu	37	chr17	17997252	17997252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgaagtcgggtgatgccCgtgtggcgctgattggattt	15	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:17997252C>T	uc002gsh.1	+	2	245	c.190C>T	c.(190-192)CGT>TGT	p.R64C	DRG2_uc010vxg.1_Missense_Mutation_p.R64C|DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.R64C	NM_001388	NP_001379	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	64					signal transduction		GTP binding			ovary(1)	1	all_neural(463;0.228)					GGGTGATGCCCGTGTGGCGCT	0.552													T	17997252	C	T	17997252	3	4	27	1	0	0	0	0	1	0	0	0	4762	652	23	1	196	1	DRG2	17	17997252	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	110012	17997252	63197958	6997	30948											
MYO15A	51168	broad.mit.edu	37	chr17	18023044	18023044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctacggctacggctacgaCgattacgaacccccatatgc	8	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:18023044C>T	uc010vxh.1	+	2	1268	c.930C>T	c.(928-930)GAC>GAT	p.D310D		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	310	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					ACGGCTACGACGATTACGAAC	0.607													T	18023044	C	T	18023044	2	4	27	1	0	0	0	0	0	0	0	1	10063	535	19	1		1	MYO15A	17	18023044	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	25792	18023044	63172166	6998	30949											
MYO15A	51168	broad.mit.edu	37	chr17	18023508	18023508	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagcagcaaggcatggataAgcccgccaggtccaagctgt	13	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:18023508A>G	uc010vxh.1	+	2	1732	c.1394A>G	c.(1393-1395)AAG>AGG	p.K465R		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	465	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					GGCATGGATAAGCCCGCCAGG	0.652													G	18023508	A	G	18023508	3	3	27	1	0	0	0	0	1	0	0	0	10063	72	3	3	1396	3	MYO15A	17	18023508	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	464	18023508	63171702	6999	30950											
MYO15A	51168	broad.mit.edu	37	chr17	18039118	18039118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgagggcctgcagaagGccatcaccttcaaagtgacc	10	15	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:18039118G>A	uc010vxh.1	+	12	4914	c.4576G>A	c.(4576-4578)GCC>ACC	p.A1526T		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1526	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CCTGCAGAAGGCCATCACCTT	0.592													A	18039118	G	A	18039118	3	1	27	1	0	0	0	0	1	0	0	0	10063	1203	42	2	4618	2	MYO15A	17	18039118	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	15610	18039118	63156092	7000	30951											
MYO15A	51168	broad.mit.edu	37	chr17	18082167	18082167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctcacattgccccccagcGagatcaccctgctctgaccc	8	19	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:18082167G>A	uc010vxh.1	+	65	10914	c.10576G>A	c.(10576-10578)GAG>AAG	p.E3526K	uc002gsn.2_Intron|MYO15A_uc010vxi.1_3'UTR|MYO15A_uc002gsl.2_3'UTR|MYO15A_uc010vxm.1_3'UTR|MYO15A_uc010cpv.2_RNA	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	3526	Tail.|FERM.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					GCCCCCCAGCGAGATCACCCT	0.423													A	18082167	G	A	18082167	3	1	27	1	0	0	0	0	1	0	0	0	10063	1059	37	1	10830	1	MYO15A	17	18082167	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	43049	18082167	63113043	7001	30952											
LLGL1	3996	broad.mit.edu	37	chr17	18143909	18143909	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggggcccaccacgggcccAccatgtgggctggcaccaac	13	17	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:18143909A>G	uc002gsp.2	+	17	2285	c.2224A>G	c.(2224-2226)ACC>GCC	p.T742A		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	742	WD 11.				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)					CCACGGGCCCACCATGTGGGC	0.617													G	18143909	A	G	18143909	3	3	27	1	0	0	0	0	1	0	0	0	8833	159	6	3	2290	3	LLGL1	17	18143909	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	61742	18143909	63051301	7002	30953											
FLII	2314	broad.mit.edu	37	chr17	18152148	18152149	+	Frame_Shift_Ins	INS	-	-	C													ctgctcagtgtggcctgggcINScccccgccatacgtagatgt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:18152147_18152148G>GC	uc002gsr.1	-	16	2035_2036	c.1984_1985C>GC	c.(1984-1986)gccfs	p.A662fs	FLII_uc002gsq.1_Frame_Shift_Ins_p.A533fs|FLII_uc010vxn.1_Frame_Shift_Ins_p.A631fs|FLII_uc010vxo.1_Frame_Shift_Ins_p.A607fs|FLII_uc002gss.1_Frame_Shift_Ins_p.A661fs	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	662	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TGTGGCCTGGGCCCCCCGCCAT	0.579													C	18152149	-	C	18152148	7	5	27	1	0	1	1	0	0	0	0	0	5925	739	26	0	1881	0	FLII	17	18152148	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	8239	18152148	63043062	7003	30954											
TOP3A	7156	broad.mit.edu	37	chr17	18205934	18205934	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcacatccacagcatcGctcaccctctgatcaggctc	6	18	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:18205934G>A	uc002gsx.1	-	6	832	c.603C>T	c.(601-603)AGC>AGT	p.S201S	TOP3A_uc010vxr.1_5'Flank|TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Silent_p.S99S|TOP3A_uc010cqa.1_RNA	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	201					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3						CCACAGCATCGCTCACCCTCT	0.547													A	18205934	G	A	18205934	2	1	27	1	0	0	0	0	0	0	0	1	16364	1078	38	1		1	TOP3A	17	18205934	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	53786	18205934	62989276	7004	30955											
SHMT1	6470	broad.mit.edu	37	chr17	18233876	18233876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgattctcacctggacaGgtgttcttgttgcaggcaat	12	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:18233876G>A	uc002gta.2	-	10	1354	c.1164C>T	c.(1162-1164)ACC>ACT	p.T388T	SHMT1_uc002gsz.2_Silent_p.T163T|SHMT1_uc002gtb.2_Silent_p.T349T|SHMT1_uc010cqb.2_Silent_p.T388T|SHMT1_uc010vxt.1_Silent_p.T250T	NM_004169	NP_004160	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	388					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)	1					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CACCTGGACAGGTGTTCTTGT	0.493													A	18233876	G	A	18233876	2	1	27	1	0	0	0	0	0	0	0	1	14285	987	35	4		4	SHMT1	17	18233876	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	27942	18233876	62961334	7005	30956											
TRIM16L	147166	broad.mit.edu	37	chr17	18638407	18638407	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcaggcacctatgttggCctgacctgcaaaggcatcga	14	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:18638407C>T	uc002gug.1	+	10	1368	c.681C>T	c.(679-681)GGC>GGT	p.G227G	TRIM16L_uc010vyf.1_Silent_p.G281G|TRIM16L_uc002guh.1_Silent_p.G227G|TRIM16L_uc010cqg.1_Silent_p.G329G|TRIM16L_uc002gui.1_Silent_p.G227G|TRIM16L_uc010vyg.1_Silent_p.G227G|TRIM16L_uc010vyh.1_Missense_Mutation_p.A140V	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN	tripartite motif-containing 16-like	227	B30.2/SPRY.					cytoplasm					0						CCTATGTTGGCCTGACCTGCA	0.567													T	18638407	C	T	18638407	2	4	27	1	0	0	0	0	0	0	0	1	16489	726	26	2		2	TRIM16L	17	18638407	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	404531	18638407	62556803	7006	30957											
FAM83G	644815	broad.mit.edu	37	chr17	18874741	18874742	+	Missense_Mutation	DNP	GC	GC	AT													gatgaggcccactggctaccGcccgtcctggcctttaggtg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:18874741_18874742GC>AT	uc002guw.2	-	6	2569_2570	c.2402_2403GC>AT	c.(2401-2403)GGC>GAT	p.G801D	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	801										ovary(1)|central_nervous_system(1)	2						ACTGGCTACCGCCCGTCCTGGC	0.624													AT	18874742	GC	AT	18874741	3	1	27	1	0	0	0	0	1	0	0	0	5639	1074	38	1	72	1	FAM83G	17	18874741	Missense_Mutation	DNP	GC	TCGA-BR-6452-01A-12D-1800-08	236334	18874741	62320469	7007	30958											
FAM83G	644815	broad.mit.edu	37	chr17	18881506	18881506	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtccccctgggggaggccGttctcagctgggacaccgtc	16	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:18881506G>A	uc002guw.2	-	5	1640	c.1473C>T	c.(1471-1473)AAC>AAT	p.N491N	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	491	Pro-rich.									ovary(1)|central_nervous_system(1)	2						GGGGGAGGCCGTTCTCAGCTG	0.677													A	18881506	G	A	18881506	2	1	27	1	0	0	0	0	0	0	0	1	5639	1136	40	1		1	FAM83G	17	18881506	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	6765	18881506	62313704	7008	30959											
EPN2	22905	broad.mit.edu	37	chr17	19232950	19232951	+	Frame_Shift_Ins	INS	-	-	A													ttgacaaccttcggacttcaINSaaaaaaacaggtatgtacag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:19232949_19232950C>CA	uc002gvd.4	+	8	1848_1849	c.1400_1401C>CA	c.(1399-1401)tcafs	p.S467fs	EPN2_uc010cql.1_Frame_Shift_Ins_p.S176fs|EPN2_uc002gve.4_Frame_Shift_Ins_p.S410fs|EPN2_uc002gvf.4_Frame_Shift_Ins_p.S182fs|EPN2_uc010vyo.2_Frame_Shift_Ins_p.S175fs|EPN2_uc002gvh.1_Frame_Shift_Ins_p.S467fs|EPN2_uc010vyp.2_Frame_Shift_Ins_p.S403fs|EPN2_uc010vyq.2_Frame_Shift_Ins_p.S404fs|EPN2_uc002gvj.3_Frame_Shift_Ins_p.S130fs	NM_014964	NP_001096134	O95208	EPN2_HUMAN	Homo sapiens epsin 2 (EPN2), transcript variant 2, mRNA.	467	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding	p.T470fs*19(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CTTCGGACTTCAAAAAAAACAG	0.396													A	19232951	-	A	19232950	7	5	27	1	0	1	1	0	0	0	0	0	5186	117	5	0	1427	0	EPN2	17	19232950	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	351444	19232950	61962260	7009	30960											
EPN2	22905	broad.mit.edu	37	chr17	19237382	19237382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccagcacatcctttgggCctggcccaggagtggagtcc	14	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:19237382C>T	uc002gvd.3	+	11	2189	c.1741C>T	c.(1741-1743)CCT>TCT	p.P581S	EPN2_uc002gve.3_Missense_Mutation_p.P524S|EPN2_uc002gvf.3_Missense_Mutation_p.P296S|EPN2_uc010vyo.1_Missense_Mutation_p.P289S|EPN2_uc010vyp.1_Missense_Mutation_p.P517S|EPN2_uc010vyq.1_Missense_Mutation_p.P518S|EPN2_uc002gvh.1_Intron|EPN2_uc002gvj.3_Intron	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	581	6 X 3 AA repeats of [DE]-P-W.|3 X 3 AA repeats of N-P-F.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					ATCCTTTGGGCCTGGCCCAGG	0.667													T	19237382	C	T	19237382	3	4	27	1	0	0	0	0	1	0	0	0	5186	739	26	2	1775	2	EPN2	17	19237382	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4432	19237382	61957828	7010	30961											
MAPK7	5598	broad.mit.edu	37	chr17	19284296	19284296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggtgagatgctggcccgGcgccagctcttcccaggcaa	13	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:19284296G>A	uc002gvn.2	+	4	1160	c.774G>A	c.(772-774)CGG>CGA	p.R258R	B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.3_5'Flank|MAPK7_uc002gvo.2_Silent_p.R119R|MAPK7_uc002gvq.2_Silent_p.R258R|MAPK7_uc002gvp.2_Silent_p.R258R	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	258	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TGCTGGCCCGGCGCCAGCTCT	0.572													A	19284296	G	A	19284296	2	1	27	1	0	0	0	0	0	0	0	1	9282	1190	42	2		2	MAPK7	17	19284296	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	46914	19284296	61910914	7011	30962											
SLC47A1	55244	broad.mit.edu	37	chr17	19470491	19470491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgggtactatgtggttgGcctccccatcgggatcgcgc	13	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:19470491G>A	uc002gvy.1	+	14	1345	c.1259G>A	c.(1258-1260)GGC>GAC	p.G420D	SLC47A1_uc002gvx.2_Missense_Mutation_p.G420D|SLC47A1_uc010vyz.1_Missense_Mutation_p.G397D|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Missense_Mutation_p.G225D|SLC47A1_uc010vza.1_Missense_Mutation_p.G132D|SLC47A1_uc010vzb.1_Missense_Mutation_p.G154D|SLC47A1_uc010vzc.1_Missense_Mutation_p.G92D	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	solute carrier family 47, member 1	420	Helical; (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TATGTGGTTGGCCTCCCCATC	0.547													A	19470491	G	A	19470491	3	1	27	1	0	0	0	0	1	0	0	0	14647	1203	42	2	1313	2	SLC47A1	17	19470491	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	186195	19470491	61724719	7012	30963											
ULK2	9706	broad.mit.edu	37	chr17	19679710	19679710	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgacagtcttctctcaatActacatttatctagaaataa	4	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:19679710A>G	uc002gwm.3	-	27	3572	c.3063T>C	c.(3061-3063)AGT>AGC	p.S1021S	ULK2_uc002gwn.2_Silent_p.S1021S	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	1021					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TTCTCTCAATACTACATTTAT	0.428													G	19679710	A	G	19679710	2	3	27	1	0	0	0	0	0	0	0	1	16973	388	14	3		3	ULK2	17	19679710	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	209219	19679710	61515500	7013	30964											
ULK2	9706	broad.mit.edu	37	chr17	19685218	19685218	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacccccagtctttgctcaGctgactgatctggtccacca	7	17	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:19685218G>A	uc002gwm.3	-	23	3132	c.2623C>T	c.(2623-2625)CTG>TTG	p.L875L	ULK2_uc002gwn.2_Silent_p.L875L	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	875					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TCTTTGCTCAGCTGACTGATC	0.512													A	19685218	G	A	19685218	2	1	27	1	0	0	0	0	0	0	0	1	16973	962	34	2		2	ULK2	17	19685218	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5508	19685218	61509992	7014	30965											
ULK2	9706	broad.mit.edu	37	chr17	19705207	19705207	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggaggaagcccatggggcTggtgttggaccttcgtacca	15	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:19705207T>C	uc002gwm.3	-	16	1833	c.1324A>G	c.(1324-1326)AGC>GGC	p.S442G	ULK2_uc002gwn.2_Missense_Mutation_p.S442G	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	442					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CCCATGGGGCTGGTGTTGGAC	0.483													C	19705207	T	C	19705207	3	2	27	1	0	0	0	0	1	0	0	0	16973	1580	55	3	1834	3	ULK2	17	19705207	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	19989	19705207	61490003	7015	30966											
AKAP10	11216	broad.mit.edu	37	chr17	19827780	19827780	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cttgccgcatccacaattatCgcttcatcaaaatttttcag	4	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:19827780C>G	uc002gwo.2	-	11	1829	c.1692G>C	c.(1690-1692)GCG>GCC	p.A564A	AKAP10_uc002gwp.1_Silent_p.A564A|AKAP10_uc010cqw.1_Silent_p.A506A	NM_007202	NP_009133	O43572	AKA10_HUMAN	A-kinase anchor protein 10 precursor	564					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			skin(1)	1	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CCACAATTATCGCTTCATCAA	0.348													G	19827780	C	G	19827780	2	3	27	1	0	0	0	0	0	0	0	1	446	871	31	5		5	AKAP10	17	19827780	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	122573	19827780	61367430	7016	30967											
CYTSB	92521	broad.mit.edu	37	chr17	20135555	20135555	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggttccaggcggatctgcagAccgcagtggtggtggccaat	16	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:20135555A>T	uc002gwq.2	+	7	2333	c.2188A>T	c.(2188-2190)ACC>TCC	p.T730S	CYTSB_uc010cqx.2_Missense_Mutation_p.T730S|CYTSB_uc002gwr.2_Missense_Mutation_p.T730S|CYTSB_uc002gws.2_Missense_Mutation_p.T730S|CYTSB_uc002gwv.2_Missense_Mutation_p.T649S|CYTSB_uc010vzf.1_Missense_Mutation_p.T70S|CYTSB_uc002gww.2_Missense_Mutation_p.T506S|CYTSB_uc002gwt.2_Missense_Mutation_p.T649S|CYTSB_uc002gwu.2_Missense_Mutation_p.T649S	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	730	Potential.					nucleus					0						GGATCTGCAGACCGCAGTGGT	0.602													T	20135555	A	T	20135555	3	4	27	1	0	0	0	0	1	0	0	0	4210	275	10	5	2254	5	CYTSB	17	20135555	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	307775	20135555	61059655	7017	30968											
CCDC144NL	339184	broad.mit.edu	37	chr17	20799218	20799218	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accactggtcccccgggtagTccaagtaccactggtcctcc	9	17	0	0	rs139153464	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:20799218T>C	uc002gyf.2	-	1	236	c.116A>G	c.(115-117)GAC>GGC	p.D39G	uc002gyg.1_Intron|uc002gyh.1_Intron	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family,	39											0						CCCCGGGTAGTCCAAGTACCA	0.642													C	20799218	T	C	20799218	3	2	27	1	0	0	0	0	1	0	0	0	2779	1667	58	3	565	3	CCDC144NL	17	20799218	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	663663	20799218	60395992	7018	30969											
MAP2K3	5606	broad.mit.edu	37	chr17	21204191	21204191	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtccttccctgcagcggatCcgggccaccgtgaactcaca	10	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:21204191C>T	uc002gys.2	+	5	550	c.285C>T	c.(283-285)ATC>ATT	p.I95I	MAP2K3_uc002gyt.2_Silent_p.I66I|MAP2K3_uc002gyu.2_Silent_p.I66I	NM_145109	NP_659731	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	95	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0				COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TGCAGCGGATCCGGGCCACCG	0.617													T	21204191	C	T	21204191	2	4	27	1	0	0	0	0	0	0	0	1	9238	845	30	4		4	MAP2K3	17	21204191	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	404973	21204191	59991019	7019	30970											
KCNJ12	3768	broad.mit.edu	37	chr17	21319710	21319710	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacaagacctatgaggtgccCtctacgccccgctgcagtgc	10	16	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:21319710C>A	uc002gyv.1	+	3	1761	c.1056C>A	c.(1054-1056)CCC>CCA	p.P352P		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	352	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	ATGAGGTGCCCTCTACGCCCC	0.567										Prostate(3;0.18)			A	21319710	C	A	21319710	2	1	27	1	0	0	0	0	0	0	0	1	8046	668	24	5		5	KCNJ12	17	21319710	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	115519	21319710	59875500	7020	30971											
NLK	51701	broad.mit.edu	37	chr17	26449711	26449711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatctggtctcttgcaaaAgggtcttccgggaattgaag	12	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:26449711A>G	uc010crj.2	+	2	753	c.541A>G	c.(541-543)AGG>GGG	p.R181G	NLK_uc010cri.1_RNA	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	nemo like kinase	181	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTCTTGCAAAAGGGTCTTCCG	0.398													G	26449711	A	G	26449711	3	3	27	1	0	0	0	0	1	0	0	0	10466	63	3	3	547	3	NLK	17	26449711	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	5130001	26449711	54745499	7021	30972											
NLK	51701	broad.mit.edu	37	chr17	26449740	26449740	+	Frame_Shift_Del	DEL	T	T	-													cgggaattgaagatgttgtgTttttttaagcatgataatgt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:26449740delT	uc010crj.2	+	2	782	c.570delT	c.(568-570)TGTfs	p.C190fs	NLK_uc010cri.1_RNA	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	nemo like kinase	190	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGATGTTGTGTTTTTTTAAGC	0.388													-	26449740	T	-	26449740	7	5	27	1	0	1	0	1	0	0	0	0	10466	1731	60	0	576	0	NLK	17	26449740	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	29	26449740	54745470	7022	30973											
KIAA0100	9703	broad.mit.edu	37	chr17	26966990	26966990	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttcgaaggggcagctgaTcctcatcacggtggtacagg	14	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:26966990T>C	uc002hbu.2	-	9	1043	c.944A>G	c.(943-945)GAT>GGT	p.D315G	KIAA0100_uc002hbv.2_Missense_Mutation_p.D315G|KIAA0100_uc010crr.1_Missense_Mutation_p.D172G	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	315						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					GGGCAGCTGATCCTCATCACG	0.542													C	26966990	T	C	26966990	3	2	27	1	0	0	0	0	1	0	0	0	8154	1435	50	3	5887	3	KIAA0100	17	26966990	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	517250	26966990	54228220	7023	30974											
KIAA0100	9703	broad.mit.edu	37	chr17	26970214	26970214	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcaataaggatgggctgaAggacagttccttttgatcca	10	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:26970214A>C	uc002hbu.2	-	4	463	c.364T>G	c.(364-366)TTC>GTC	p.F122V	KIAA0100_uc002hbv.2_Missense_Mutation_p.F122V|KIAA0100_uc010crr.1_5'UTR	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	122						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					GATGGGCTGAAGGACAGTTCC	0.493													C	26970214	A	C	26970214	3	2	27	1	0	0	0	0	1	0	0	0	8154	72	3	5	6487	5	KIAA0100	17	26970214	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3224	26970214	54224996	7024	30975											
SUPT6H	6830	broad.mit.edu	37	chr17	27014479	27014479	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggacctcggaaagggacccAcctcctgaaggtaggattgg	15	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:27014479A>G	uc002hby.2	+	23	3086	c.2996A>G	c.(2995-2997)CAC>CGC	p.H999R	SUPT6H_uc010crt.2_Missense_Mutation_p.H999R|SUPT6H_uc002hbz.1_5'Flank	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	999					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					AAAGGGACCCACCTCCTGAAG	0.398													G	27014479	A	G	27014479	3	3	27	1	0	0	0	0	1	0	0	0	15397	159	6	3	3082	3	SUPT6H	17	27014479	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	44265	27014479	54180731	7025	30976											
NEK8	284086	broad.mit.edu	37	chr17	27061177	27061177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacttcctggaagacaaagCccttatgatcgccatggaat	9	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:27061177C>T	uc002hcp.2	+	2	224	c.224C>T	c.(223-225)GCC>GTC	p.A75V		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	75	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					GAAGACAAAGCCCTTATGATC	0.562													T	27061177	C	T	27061177	3	4	27	1	0	0	0	0	1	0	0	0	10330	739	26	2	230	2	NEK8	17	27061177	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	46698	27061177	54134033	7026	30977											
TRAF4	9618	broad.mit.edu	37	chr17	27076177	27076177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaagcccaaccttgagtGcttcagcccagccttctaca	8	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:27076177G>A	uc002hcs.2	+	7	1103	c.995G>A	c.(994-996)TGC>TAC	p.C332Y	TRAF4_uc002hcq.1_Intron	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	332	MATH.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			upper_aerodigestive_tract(1)|lung(1)	2	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			AACCTTGAGTGCTTCAGCCCA	0.557													A	27076177	G	A	27076177	3	1	27	1	0	0	0	0	1	0	0	0	16440	1319	46	2	1021	2	TRAF4	17	27076177	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	15000	27076177	54119033	7027	30978											
TIAF1	9220	broad.mit.edu	37	chr17	27400906	27400906	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcaagttgagtttatgGtccagaccacctggacagag	10	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:27400906G>A	uc002hdv.1	-	1	1722	c.312C>T	c.(310-312)GAC>GAT	p.D104D	MYO18A_uc010wbc.1_3'UTR|MYO18A_uc002hds.2_3'UTR|MYO18A_uc010csa.1_3'UTR|MYO18A_uc002hdt.1_3'UTR|MYO18A_uc002hdu.1_3'UTR	NM_004740	NP_004731	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	104					anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus					0	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGAGTTTATGGTCCAGACCAC	0.483													A	27400906	G	A	27400906	2	1	27	1	0	0	0	0	0	0	0	1	15885	1252	44	4		4	TIAF1	17	27400906	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	324729	27400906	53794304	7028	30979											
MYO18A	399687	broad.mit.edu	37	chr17	27437573	27437573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgagccgccctccaggcCcgcgatggagccagagagca	14	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:27437573C>T	uc002hdt.1	-	18	3126	c.2968G>A	c.(2968-2970)GGC>AGC	p.G990S	MYO18A_uc010wbc.1_Missense_Mutation_p.G532S|MYO18A_uc002hds.2_Missense_Mutation_p.G532S|MYO18A_uc010csa.1_Missense_Mutation_p.G990S|MYO18A_uc002hdu.1_Missense_Mutation_p.G990S|MYO18A_uc010wbd.1_Missense_Mutation_p.G659S	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	990	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCCTCCAGGCCCGCGATGGAG	0.607													T	27437573	C	T	27437573	3	4	27	1	0	0	0	0	1	0	0	0	10065	623	22	4	3296	4	MYO18A	17	27437573	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	36667	27437573	53757637	7029	30980											
TAOK1	57551	broad.mit.edu	37	chr17	27794194	27794194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtaccaatgaagtggtggCcatcaagaaaatgtcttata	10	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:27794194C>T	uc002hdz.1	+	3	358	c.164C>T	c.(163-165)GCC>GTC	p.A55V	TAOK1_uc010wbe.1_Missense_Mutation_p.A55V|TAOK1_uc010wbf.1_Missense_Mutation_p.A55V	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	55	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)			GAAGTGGTGGCCATCAAGAAA	0.333													T	27794194	C	T	27794194	3	4	27	1	0	0	0	0	1	0	0	0	15544	739	26	2	170	2	TAOK1	17	27794194	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	356621	27794194	53401016	7030	30981											
TAOK1	57551	broad.mit.edu	37	chr17	27818822	27818822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgattattttcgcaactTtgtagattcttgcctccaga	7	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:27818822T>C	uc002hdz.1	+	10	964	c.770T>C	c.(769-771)TTT>TCT	p.F257S	TAOK1_uc010wbe.1_Missense_Mutation_p.F257S|TAOK1_uc010wbf.1_Missense_Mutation_p.F257S|TAOK1_uc002heb.1_Missense_Mutation_p.F83S	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	257	Protein kinase.			F -> S (in Ref. 1; AAG38502).	mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)			TTTCGCAACTTTGTAGATTCT	0.308													C	27818822	T	C	27818822	3	2	27	1	0	0	0	0	1	0	0	0	15544	1841	64	3	804	3	TAOK1	17	27818822	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	24628	27818822	53376388	7031	30982											
TAOK1	57551	broad.mit.edu	37	chr17	27818871	27818871	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagatcgacctacatcagaGgaacttttaaaggtcagttc	8	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:27818871G>T	uc002hdz.1	+	10	1013	c.819G>T	c.(817-819)GAG>GAT	p.E273D	TAOK1_uc010wbe.1_Missense_Mutation_p.E273D|TAOK1_uc010wbf.1_Missense_Mutation_p.E273D|TAOK1_uc002heb.1_Missense_Mutation_p.E99D	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	273	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)			CTACATCAGAGGAACTTTTAA	0.234													T	27818871	G	T	27818871	3	4	27	1	0	0	0	0	1	0	0	0	15544	991	35	5	853	5	TAOK1	17	27818871	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	49	27818871	53376339	7032	30983											
TAOK1	57551	broad.mit.edu	37	chr17	27844498	27844499	+	Frame_Shift_Ins	INS	-	-	A													tgaaaaccagagtacccccaINSaaaaagaaaaacaggagtgg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:27844497_27844498C>CA	uc002hdz.2	+	15	1925_1926	c.1731_1732C>CA	c.(1729-1734)cccaaafs	p.P577fs	TAOK1_uc010wbe.2_Intron	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	577					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			AGAGTACCCCCAAAAAAGAAAA	0.441													A	27844499	-	A	27844498	7	5	27	1	0	1	1	0	0	0	0	0	15544	131	5	0	1790	0	TAOK1	17	27844498	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	25627	27844498	53350712	7033	30984											
GIT1	28964	broad.mit.edu	37	chr17	27901720	27901720	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagggtgtggggagagaggTcactgcttcttctctcgggt	17	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:27901720T>C	uc002hef.2	-	20	2500	c.2286A>G	c.(2284-2286)TGA>TGG	p.*762W	GIT1_uc002heg.2_Nonstop_Mutation_p.*771W|GIT1_uc010wbg.1_Nonstop_Mutation_p.*748W|GIT1_uc010csb.1_3'UTR	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interactor 1	762					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding				0				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GGGAGAGAGGTCACTGCTTCT	0.597													C	27901720	T	C	27901720	4	2	27	1	0	0	0	0	0	0	0	0	6396	1680	58	3	3	3	GIT1	17	27901720	Nonstop_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	57222	27901720	53293490	7034	30985											
ANKRD13B	124930	broad.mit.edu	37	chr17	27939735	27939735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgcggctacagcatgatgGgcggccagcgggaggcggcg	20	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:27939735G>A	uc002hei.2	+	13	1590	c.1477G>A	c.(1477-1479)GGC>AGC	p.G493S	ANKRD13B_uc002heh.2_Missense_Mutation_p.G361S|ANKRD13B_uc002hej.2_RNA|ANKRD13B_uc002hek.2_Missense_Mutation_p.G3S	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	493											0						CAGCATGATGGGCGGCCAGCG	0.716													A	27939735	G	A	27939735	3	1	27	1	0	0	0	0	1	0	0	0	642	1232	43	4	1527	4	ANKRD13B	17	27939735	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	38015	27939735	53255475	7035	30986											
CORO6	84940	broad.mit.edu	37	chr17	27948258	27948258	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttggccagaggcaggAcgatgaaggcacccccgcct	12	15	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:27948258A>T	uc002hel.2	-	1	184	c.182T>A	c.(181-183)GTC>GAC	p.V61D		NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	61					actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0						CAGAGGCAGGACGATGAAGGC	0.582													T	27948258	A	T	27948258	3	4	27	1	0	0	0	0	1	0	0	0	3758	275	10	5	1276	5	CORO6	17	27948258	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	8523	27948258	53246952	7036	30987											
SSH2	85464	broad.mit.edu	37	chr17	27959499	27959499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgctcttgctcctgccGtaagcgctcttcgaactcca	8	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:27959499G>A	uc002heo.1	-	15	2632	c.2632C>T	c.(2632-2634)CGG>TGG	p.R878W	SSH2_uc010wbh.1_Missense_Mutation_p.R905W	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	878					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						TGCTCCTGCCGTAAGCGCTCT	0.547													A	27959499	G	A	27959499	3	1	27	1	0	0	0	0	1	0	0	0	15184	1144	40	1	1643	1	SSH2	17	27959499	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	11241	27959499	53235711	7037	30988											
SSH2	85464	broad.mit.edu	37	chr17	27977756	27977756	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catatacccgaatgttatgaTactcaaagactcctgggaag	8	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:27977756T>C	uc002heo.1	-	12	1061	c.1061A>G	c.(1060-1062)TAT>TGT	p.Y354C	SSH2_uc010wbh.1_Missense_Mutation_p.Y381C|SSH2_uc002hep.1_Missense_Mutation_p.Y354C	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	354	Tyrosine-protein phosphatase.				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						AATGTTATGATACTCAAAGAC	0.418													C	27977756	T	C	27977756	3	2	27	1	0	0	0	0	1	0	0	0	15184	1406	49	3	3226	3	SSH2	17	27977756	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	18257	27977756	53217454	7038	30989											
SSH2	85464	broad.mit.edu	37	chr17	27999065	27999065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggctctcataataactcaCccaagtgagaaataggctgc	8	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:27999065C>T	uc002heo.1	-	8	616	c.616G>A	c.(616-618)GTG>ATG	p.V206M	SSH2_uc010wbh.1_Missense_Mutation_p.V233M|SSH2_uc002hep.1_Missense_Mutation_p.V206M	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	206					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						TAATAACTCACCCAAGTGAGA	0.488													T	27999065	C	T	27999065	3	4	27	1	0	0	0	0	1	0	0	0	15184	507	18	4	3687	4	SSH2	17	27999065	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	21309	27999065	53196145	7039	30990											
EFCAB5	374786	broad.mit.edu	37	chr17	28320295	28320295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggctctgcaggagcaattcGatgaatggattctagaccct	11	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:28320295G>A	uc002het.2	+	5	1072	c.880G>A	c.(880-882)GAT>AAT	p.D294N	EFCAB5_uc010wbi.1_Missense_Mutation_p.D35N|EFCAB5_uc010wbj.1_Missense_Mutation_p.D238N|EFCAB5_uc010wbk.1_Intron|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.D173N|EFCAB5_uc010csf.2_Missense_Mutation_p.D173N	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	294							calcium ion binding			ovary(1)|skin(1)	2						GGAGCAATTCGATGAATGGAT	0.413													A	28320295	G	A	28320295	3	1	27	1	0	0	0	0	1	0	0	0	4938	1058	37	1	898	1	EFCAB5	17	28320295	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	321230	28320295	52874915	7040	30991											
SLC6A4	6532	broad.mit.edu	37	chr17	28538348	28538348	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgtgctgtccaagcccagCgtgattaacatcagaaagaa	9	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:28538348C>T	uc002hey.3	-	10	1843	c.1299G>A	c.(1297-1299)ACG>ACA	p.T433T	SLC6A4_uc010csg.2_RNA	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	433	Helical; Name=8; (Potential).				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CCAAGCCCAGCGTGATTAACA	0.527													T	28538348	C	T	28538348	2	4	27	1	0	0	0	0	0	0	0	1	14686	755	27	1		1	SLC6A4	17	28538348	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	218053	28538348	52656862	7041	30992											
CPD	1362	broad.mit.edu	37	chr17	28712243	28712243	+	Missense_Mutation	SNP	A	A	G													cacaaacggcgcacattggtAtgatgtggaaggtatgcaaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:28712243A>G	uc002hfb.1	+	2	998	c.983A>G	c.(982-984)TAT>TGT	p.Y328C	CPD_uc010wbo.1_Missense_Mutation_p.Y81C|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	328	Extracellular (Potential).|Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						GCACATTGGTATGATGTGGAA	0.403													G	28712243	A	G	28712243	3	3	27	1	0	0	0	0	1	0	0	0	3798	449	16	3	989	3	CPD	17	28712243	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	173895	28712243	52482967	7042	30993	104	2									
CPD	1362	broad.mit.edu	37	chr17	28712247	28712247	+	Silent	SNP	T	T	C													aacggcgcacattggtatgaTgtggaaggtatgcaaagcat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:28712247T>C	uc002hfb.1	+	2	1002	c.987T>C	c.(985-987)GAT>GAC	p.D329D	CPD_uc010wbo.1_Silent_p.D82D|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	329	Extracellular (Potential).|Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						ATTGGTATGATGTGGAAGGTA	0.403													C	28712247	T	C	28712247	2	2	27	1	0	0	0	0	0	0	0	1	3798	1461	51	3		3	CPD	17	28712247	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4	28712247	52482963	7043	30994	104	2									
CPD	1362	broad.mit.edu	37	chr17	28791791	28791791	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccatgagttccaggatgaaAcagacactgaagaggaaaca	11	8	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:28791791A>G	uc002hfb.1	+	21	4117	c.4102A>G	c.(4102-4104)ACA>GCA	p.T1368A	CPD_uc010wbo.1_Missense_Mutation_p.T1121A|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	1368	Cytoplasmic (Potential).				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						CCAGGATGAAACAGACACTGA	0.418													G	28791791	A	G	28791791	3	3	27	1	0	0	0	0	1	0	0	0	3798	43	2	3	4184	3	CPD	17	28791791	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	79544	28791791	52403419	7044	30995											
GOSR1	9527	broad.mit.edu	37	chr17	28808272	28808272	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacccgagatggaagacgcgAcaggtataggtactaccaga	12	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:28808272A>G	uc002hfe.2	+	2	169	c.143A>G	c.(142-144)GAC>GGC	p.D48G	GOSR1_uc002hfd.2_Missense_Mutation_p.D48G|GOSR1_uc002hff.2_5'UTR|GOSR1_uc002hfc.1_Missense_Mutation_p.D48G	NM_004871	NP_004862	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1 isoform 1	48	Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity				0						GGAAGACGCGACAGGTATAGG	0.378													G	28808272	A	G	28808272	3	3	27	1	0	0	0	0	1	0	0	0	6577	275	10	3	149	3	GOSR1	17	28808272	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	16481	28808272	52386938	7045	30996											
ATAD5	79915	broad.mit.edu	37	chr17	29161368	29161368	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gataaagtcacctgaatcagTacctgttgacagcaacaaag	8	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:29161368T>C	uc002hfs.1	+	2	615	c.269T>C	c.(268-270)GTA>GCA	p.V90A	ATAD5_uc002hft.1_5'UTR	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	90					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CCTGAATCAGTACCTGTTGAC	0.353													C	29161368	T	C	29161368	3	2	27	1	0	0	0	0	1	0	0	0	1076	1638	57	3	275	3	ATAD5	17	29161368	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	353096	29161368	52033842	7046	30997											
C17orf42	79736	broad.mit.edu	37	chr17	29231212	29231212	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacttgaactgtacttttatActtaaacaagggcacattca	5	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:29231212A>G	uc002hfu.2	-	2	437	c.367T>C	c.(367-369)TAT>CAT	p.Y123H	C17orf42_uc002hfv.2_RNA|C17orf42_uc002hfw.2_Missense_Mutation_p.Y123H|C17orf42_uc010wbs.1_Missense_Mutation_p.Y123H	NM_024683	NP_078959	Q96QE5	TEFM_HUMAN	hypothetical protein LOC79736	123					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding			ovary(1)	1		all_cancers(10;4.64e-07)|all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				GTACTTTTATACTTAAACAAG	0.398													G	29231212	A	G	29231212	3	3	27	1	0	0	0	0	1	0	0	0	1856	391	14	3	727	3	C17orf42	17	29231212	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	69844	29231212	51963998	7047	30998											
ADAP2	55803	broad.mit.edu	37	chr17	29283258	29283258	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtactctccattttcaGgatgccttcgagcagggcca	9	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:29283258G>T	uc002hfx.2	+	10	1162	c.883_splice	c.e10-1	p.D295_splice	ADAP2_uc010csk.2_Splice_Site_p.D301_splice|ADAP2_uc002hfy.2_Splice_Site_p.D294_splice|ADAP2_uc010csl.2_Splice_Site	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	centaurin-alpha 2 protein						heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		ovary(1)	1						TCCATTTTCAGGATGCCTTCG	0.562													T	29283258	G	T	29283258	5	4	27	1	0	0	0	0	0	0	1	0	280	1014	35	5	920	5	ADAP2	17	29283258	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	52046	29283258	51911952	7048	30999											
NF1	4763	broad.mit.edu	37	chr17	29653192	29653192	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaaactacctgctgccacCttggctttagaagaggacct	9	12	0	3	rs143230984		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:29653192C>A	uc002hgg.2	+	37	5523	c.5190C>A	c.(5188-5190)ACC>ACA	p.T1730T	NF1_uc002hgh.2_Silent_p.T1709T|NF1_uc002hgi.1_Silent_p.T742T|NF1_uc010cso.2_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1730	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGCTGCCACCTTGGCTTTAG	0.443			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29653192	C	A	29653192	2	1	27	1	0	0	0	0	0	0	0	1	10356	668	24	5		5	NF1	17	29653192	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	369934	29653192	51542018	7049	31000											
UTP6	55813	broad.mit.edu	37	chr17	30205757	30205757	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactatttgacttcttagtAaatctttccaagcaaaaggt	5	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:30205757A>G	uc002hgr.2	-	12	1094	c.1011T>C	c.(1009-1011)TTT>TTC	p.F337F	UTP6_uc002hgq.2_Silent_p.F153F|UTP6_uc010cst.2_Silent_p.F186F	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	hepatocellular carcinoma-associated antigen 66	337					rRNA processing	nucleolus	binding			ovary(1)	1		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				ACTTCTTAGTAAATCTTTCCA	0.403													G	30205757	A	G	30205757	2	3	27	1	0	0	0	0	0	0	0	1	17099	359	13	3		3	UTP6	17	30205757	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	552565	30205757	50989453	7050	31001											
LRRC37B	114659	broad.mit.edu	37	chr17	30348561	30348561	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actccagaagaaaggctcccAgaggtggttccgcttctcaa	10	12	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:30348561A>G	uc002hgu.2	+	1	407	c.396A>G	c.(394-396)CCA>CCG	p.P132P	LRRC37B_uc010wbx.1_Silent_p.P50P|LRRC37B_uc010csu.2_Silent_p.P132P	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	132	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AAAGGCTCCCAGAGGTGGTTC	0.557													G	30348561	A	G	30348561	2	3	27	1	0	0	0	0	0	0	0	1	8994	175	7	3		3	LRRC37B	17	30348561	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	142804	30348561	50846649	7051	31002											
LRRC37B	114659	broad.mit.edu	37	chr17	30348993	30348993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacccttgaagacatccaGtcctcttcactccaggaaga	8	13	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:30348993G>A	uc002hgu.2	+	1	839	c.828G>A	c.(826-828)CAG>CAA	p.Q276Q	LRRC37B_uc010wbx.1_Silent_p.Q194Q|LRRC37B_uc010csu.2_Silent_p.Q276Q	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	276	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AAGACATCCAGTCCTCTTCAC	0.547													A	30348993	G	A	30348993	2	1	27	1	0	0	0	0	0	0	0	1	8994	1020	36	4		4	LRRC37B	17	30348993	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	432	30348993	50846217	7052	31003											
LRRC37B	114659	broad.mit.edu	37	chr17	30349701	30349701	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaaactgcaccagaggaacaGaaggcctccacaagcaccaa	9	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:30349701G>C	uc002hgu.2	+	1	1547	c.1536G>C	c.(1534-1536)CAG>CAC	p.Q512H	LRRC37B_uc010wbx.1_Missense_Mutation_p.Q430H|LRRC37B_uc010csu.2_Missense_Mutation_p.Q512H	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	512	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CAGAGGAACAGAAGGCCTCCA	0.522													C	30349701	G	C	30349701	3	2	27	1	0	0	0	0	1	0	0	0	8994	933	33	5	1538	5	LRRC37B	17	30349701	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	708	30349701	50845509	7053	31004											
C17orf75	64149	broad.mit.edu	37	chr17	30662406	30662406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctttggattgggcatacaAcatcctcaaaccagctgctc	7	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:30662406A>G	uc002hhg.2	-	6	636	c.605T>C	c.(604-606)GTT>GCT	p.V202A		NM_022344	NP_071739	Q9HAS0	NJMU_HUMAN	hypothetical protein LOC64149	202					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TGGGCATACAACATCCTCAAA	0.408													G	30662406	A	G	30662406	3	3	27	1	0	0	0	0	1	0	0	0	1880	43	2	3	605	3	C17orf75	17	30662406	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	312705	30662406	50532804	7054	31005											
MYO1D	4642	broad.mit.edu	37	chr17	30986316	30986316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattgtcagagctgccttgGttcttttgtaccgcatgcgg	11	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:30986316G>A	uc002hho.1	-	17	2174	c.2162C>T	c.(2161-2163)ACC>ATC	p.T721I	MYO1D_uc002hhp.1_Missense_Mutation_p.T721I	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	721	IQ 2.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			AGCTGCCTTGGTTCTTTTGTA	0.522											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	30986316	G	A	30986316	3	1	27	1	0	0	0	0	1	0	0	0	10071	1261	44	4	882	4	MYO1D	17	30986316	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	323910	30986316	50208894	7055	31006											
MYO1D	4642	broad.mit.edu	37	chr17	31039080	31039080	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaacaatgttcggggtgTtcgaatgaaaattttggtct	12	4	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:31039080T>C	uc002hho.1	-	16	2059	c.2047A>G	c.(2047-2049)ACA>GCA	p.T683A	MYO1D_uc002hhp.1_Missense_Mutation_p.T683A	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	683						myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GTTCGGGGTGTTCGAATGAAA	0.388													C	31039080	T	C	31039080	3	2	27	1	0	0	0	0	1	0	0	0	10071	1725	60	3	1001	3	MYO1D	17	31039080	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	52764	31039080	50156130	7056	31007											
CCL8	6355	broad.mit.edu	37	chr17	32646550	32646550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagcgcttctgtgcctGctgctcatggcagccacttt	10	14	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:32646550G>A	uc002hib.2	+	1	485	c.30G>A	c.(28-30)CTG>CTA	p.L10L		NM_005623	NP_005614	P80075	CCL8_HUMAN	small inducible cytokine A8 precursor	10					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity				0		Ovarian(249;0.0443)|Breast(31;0.151)				TTCTGTGCCTGCTGCTCATGG	0.522													A	32646550	G	A	32646550	2	1	27	1	0	0	0	0	0	0	0	1	2907	1306	46	2		2	CCL8	17	32646550	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1607470	32646550	48548660	7057	31008											
TMEM132E	124842	broad.mit.edu	37	chr17	32959781	32959781	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagtctcgagggtccatgaAcgccagggtcaccttccgct	12	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:32959781A>G	uc002hif.2	+	7	1599	c.1271A>G	c.(1270-1272)AAC>AGC	p.N424S		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	424	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		GGGTCCATGAACGCCAGGGTC	0.567													G	32959781	A	G	32959781	3	3	27	1	0	0	0	0	1	0	0	0	16045	43	2	3	1297	3	TMEM132E	17	32959781	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	313231	32959781	48235429	7058	31009											
CCT6B	10693	broad.mit.edu	37	chr17	33266714	33266714	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagaattcacggccattccAccacaagcaagagagagtct	8	11	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:33266714A>G	uc002hig.2	-	9	1081	c.987T>C	c.(985-987)GGT>GGC	p.G329G	CCT6B_uc010ctg.2_Silent_p.G292G|CCT6B_uc010wcc.1_Silent_p.G284G	NM_006584	NP_006575	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B	329					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			pancreas(1)	1		Ovarian(249;0.17)				CGGCCATTCCACCACAAGCAA	0.368													G	33266714	A	G	33266714	2	3	27	1	0	0	0	0	0	0	0	1	2958	146	6	3		3	CCT6B	17	33266714	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	306933	33266714	47928496	7059	31010											
SLFN5	162394	broad.mit.edu	37	chr17	33585998	33585998	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaaggaaaaccactttttgAtttttgtgaaatcatggaac	8	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:33585998A>T	uc002hjf.3	+	2	406	c.289A>T	c.(289-291)ATT>TTT	p.I97F	SLFN5_uc002hje.2_Missense_Mutation_p.I97F|SLFN5_uc010wcg.1_Missense_Mutation_p.I97F	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	97					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		CCACTTTTTGATTTTTGTGAA	0.418													T	33585998	A	T	33585998	3	4	27	1	0	0	0	0	1	0	0	0	14737	333	12	5	291	5	SLFN5	17	33585998	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	319284	33585998	47609212	7060	31011											
SLFN11	91607	broad.mit.edu	37	chr17	33680045	33680045	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttgccttcccataccagTccccatcttcagtacggaaa	5	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:33680045T>C	uc010ctp.2	-	7	2478	c.2036A>G	c.(2035-2037)GAC>GGC	p.D679G	SLFN11_uc010ctq.2_Missense_Mutation_p.D679G|SLFN11_uc002hjh.3_Missense_Mutation_p.D679G|SLFN11_uc002hjg.3_Missense_Mutation_p.D679G|SLFN11_uc010ctr.2_Missense_Mutation_p.D679G	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	679						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCATACCAGTCCCCATCTTC	0.473													C	33680045	T	C	33680045	3	2	27	1	0	0	0	0	1	0	0	0	14733	1667	58	3	673	3	SLFN11	17	33680045	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	94047	33680045	47515165	7061	31012											
SLFN11	91607	broad.mit.edu	37	chr17	33680106	33680106	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgttgaatgtgttcaaAgttttctcttaggaaagttt	10	3	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:33680106A>G	uc010ctp.2	-	7	2417	c.1975T>C	c.(1975-1977)TTT>CTT	p.F659L	SLFN11_uc010ctq.2_Missense_Mutation_p.F659L|SLFN11_uc002hjh.3_Missense_Mutation_p.F659L|SLFN11_uc002hjg.3_Missense_Mutation_p.F659L|SLFN11_uc010ctr.2_Missense_Mutation_p.F659L	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	659						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGTGTTCAAAGTTTTCTCTT	0.403													G	33680106	A	G	33680106	3	3	27	1	0	0	0	0	1	0	0	0	14733	72	3	3	734	3	SLFN11	17	33680106	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	61	33680106	47515104	7062	31013											
SLFN13	146857	broad.mit.edu	37	chr17	33772396	33772396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaatataaaaacaccttcCgtgttgcttagtctcaaaga	5	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:33772396C>T	uc002hjk.1	-	1	634	c.304G>A	c.(304-306)GGA>AGA	p.G102R	SLFN13_uc010wch.1_Missense_Mutation_p.G102R|SLFN13_uc002hjl.2_Missense_Mutation_p.G102R|SLFN13_uc010ctt.2_Intron|SLFN13_uc002hjm.2_5'UTR	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	schlafen family member 13	102						intracellular	ATP binding			ovary(1)|breast(1)	2				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAACACCTTCCGTGTTGCTTA	0.388													T	33772396	C	T	33772396	3	4	27	1	0	0	0	0	1	0	0	0	14736	661	23	1	2405	1	SLFN13	17	33772396	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	92290	33772396	47422814	7063	31014											
GAS2L2	246176	broad.mit.edu	37	chr17	34073121	34073121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgaggcccaggcactcGgctgggccaaaggaacgagg	16	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:34073121G>A	uc002hjv.1	-	6	1423	c.1395C>T	c.(1393-1395)GCC>GCT	p.A465A		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	465					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCAGGCACTCGGCTGGGCCAA	0.622													A	34073121	G	A	34073121	2	1	27	1	0	0	0	0	0	0	0	1	6247	1103	39	1		1	GAS2L2	17	34073121	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	300725	34073121	47122089	7064	31015											
C17orf66	256957	broad.mit.edu	37	chr17	34183196	34183196	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagagatgactgcttccTggcgtgcagtggcatctggg	14	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:34183196T>C	uc002hke.1	-	13	1408	c.1259A>G	c.(1258-1260)CAG>CGG	p.Q420R	C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.Q380R|C17orf66_uc010wcm.1_3'UTR	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	hypothetical protein LOC256957	420							binding			breast(2)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GACTGCTTCCTGGCGTGCAGT	0.517													C	34183196	T	C	34183196	3	2	27	1	0	0	0	0	1	0	0	0	1874	1580	55	3	465	3	C17orf66	17	34183196	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	110075	34183196	47012014	7065	31016											
ACACA	31	broad.mit.edu	37	chr17	35601597	35601597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacactcgatggagtttctcGcctctgagtgccgtgctctg	11	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:35601597G>A	uc002hnm.2	-	21	2729	c.2538C>T	c.(2536-2538)GGC>GGT	p.G846G	ACACA_uc002hnk.2_Silent_p.G768G|ACACA_uc002hnl.2_Silent_p.G788G|ACACA_uc002hnn.2_Silent_p.G846G|ACACA_uc002hno.2_Silent_p.G883G|ACACA_uc010cuz.2_Silent_p.G846G	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	846					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGAGTTTCTCGCCTCTGAGTG	0.453													A	35601597	G	A	35601597	2	1	27	1	0	0	0	0	0	0	0	1	106	1074	38	1		1	ACACA	17	35601597	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1418401	35601597	45593613	7066	31017											
ACACA	31	broad.mit.edu	37	chr17	35766383	35766383	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattgacatcagagtagaccAccacatcctctcatcattgc	6	13	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:35766383A>G	uc002hno.2	-	1	520	c.7T>C	c.(7-9)TGG>CGG	p.W3R	ACACA_uc002hnn.2_5'UTR|ACACA_uc002hnq.2_5'UTR|TADA2A_uc002hnt.2_5'Flank|TADA2A_uc002hnu.1_5'Flank|TADA2A_uc002hnv.2_5'Flank	NM_198834	NP_942131	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 1	Error:Variant_position_missing_in_Q13085_after_alignment					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	agagtagacCACCACATCCTC	0.284													G	35766383	A	G	35766383	3	3	27	1	0	0	0	0	1	0	0	0	106	159	6	3	7425	3	ACACA	17	35766383	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	164786	35766383	45428827	7067	31018											
DUSP14	11072	broad.mit.edu	37	chr17	35872915	35872915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagacaccttatggcataGttcccgacgtctatgagaag	9	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:35872915G>A	uc002hnx.2	+	3	835	c.541G>A	c.(541-543)GTT>ATT	p.V181I	DUSP14_uc002hny.2_Missense_Mutation_p.V168I|DUSP14_uc002hnz.2_Missense_Mutation_p.V168I	NM_007026	NP_008957	O95147	DUS14_HUMAN	dual specificity phosphatase 14	181							MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Breast(25;0.00637)|Ovarian(249;0.15)				TTATGGCATAGTTCCCGACGT	0.557													A	35872915	G	A	35872915	3	1	27	1	0	0	0	0	1	0	0	0	4814	1029	36	4	543	4	DUSP14	17	35872915	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	106532	35872915	45322295	7068	31019											
SYNRG	11276	broad.mit.edu	37	chr17	35914085	35914085	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgttggtggctctagtggTgatacactatcggctgtttt	12	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:35914085T>C	uc002hoa.2	-	14	1823	c.1740A>G	c.(1738-1740)TCA>TCG	p.S580S	SYNRG_uc010wde.1_Silent_p.S502S|SYNRG_uc010wdf.1_Silent_p.S502S|SYNRG_uc002hoc.2_Silent_p.S501S|SYNRG_uc002hoe.2_Silent_p.S502S|SYNRG_uc002hod.2_Silent_p.S502S|SYNRG_uc010wdg.1_Silent_p.S419S|SYNRG_uc002hob.2_Silent_p.S580S|SYNRG_uc002hof.2_Silent_p.S292S|SYNRG_uc010cvd.1_Silent_p.S380S	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	580	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						GCTCTAGTGGTGATACACTAT	0.403													C	35914085	T	C	35914085	2	2	27	1	0	0	0	0	0	0	0	1	15457	1683	59	3		3	SYNRG	17	35914085	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	41170	35914085	45281125	7069	31020											
SYNRG	11276	broad.mit.edu	37	chr17	35931915	35931915	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccgctatcatggctagaAcggtataaagttcttctttt	7	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:35931915A>G	uc002hoa.2	-	9	1156	c.1073T>C	c.(1072-1074)GTT>GCT	p.V358A	SYNRG_uc010wde.1_Missense_Mutation_p.V280A|SYNRG_uc010wdf.1_Missense_Mutation_p.V280A|SYNRG_uc002hoc.2_Missense_Mutation_p.V279A|SYNRG_uc002hoe.2_Missense_Mutation_p.V280A|SYNRG_uc002hod.2_Missense_Mutation_p.V280A|SYNRG_uc010wdg.1_Missense_Mutation_p.V280A|SYNRG_uc002hob.2_Missense_Mutation_p.V358A|SYNRG_uc002hof.2_Missense_Mutation_p.V70A|SYNRG_uc010cvd.1_Missense_Mutation_p.V158A|SYNRG_uc002hog.1_Missense_Mutation_p.V492A|SYNRG_uc010wdh.1_3'UTR	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	358	EH.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						CATGGCTAGAACGGTATAAAG	0.358													G	35931915	A	G	35931915	3	3	27	1	0	0	0	0	1	0	0	0	15457	43	2	3	3000	3	SYNRG	17	35931915	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	17830	35931915	45263295	7070	31021											
DDX52	11056	broad.mit.edu	37	chr17	35986896	35986896	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attagtcgatttggagtagtCacaagaatatctataggaaa	9	4	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:35986896C>T	uc002hoi.1	-	7	908	c.870G>A	c.(868-870)GTG>GTA	p.V290V	DDX52_uc002hoh.1_Silent_p.V182V	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	ATP-dependent RNA helicase ROK1 isoform a	290	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|skin(1)	2		Breast(25;0.00637)|Ovarian(249;0.15)				TTGGAGTAGTCACAAGAATAT	0.348													T	35986896	C	T	35986896	2	4	27	1	0	0	0	0	0	0	0	1	4370	813	29	4		4	DDX52	17	35986896	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	54981	35986896	45208314	7071	31022											
MLLT6	4302	broad.mit.edu	37	chr17	36865786	36865786	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtgctggaggtggacaaCgtcaagtactgcggctactg	15	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:36865786C>T	uc002hqi.3	+	6	523	c.510C>T	c.(508-510)AAC>AAT	p.N170N	MLLT6_uc010wdr.1_Silent_p.N170N|MLLT6_uc010cvm.1_Silent_p.N170N	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	170	PHD-type 2.				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					AGGTGGACAACGTCAAGTACT	0.542			T	MLL	AL								T	36865786	C	T	36865786	2	4	27	1	0	0	0	0	0	0	0	1	9630	535	19	1		1	MLLT6	17	36865786	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	878890	36865786	44329424	7072	31023											
PCGF2	7703	broad.mit.edu	37	chr17	36895090	36895090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctccaagacctcgccgCggtcctcattggagccgttg	11	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:36895090C>T	uc002hqp.1	-	7	584	c.341G>A	c.(340-342)CGC>CAC	p.R114H	PCGF2_uc002hqn.1_Missense_Mutation_p.R114H|PCGF2_uc002hqo.1_Missense_Mutation_p.R114H|PCGF2_uc010cvo.1_5'UTR|PCGF2_uc002hqq.1_Missense_Mutation_p.R114H	NM_007144	NP_009075	P35227	PCGF2_HUMAN	ring finger protein 110	114					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|skin(1)	2	Breast(7;9.07e-22)					GACCTCGCCGCGGTCCTCATT	0.587													T	36895090	C	T	36895090	3	4	27	1	0	0	0	0	1	0	0	0	11575	768	27	1	713	1	PCGF2	17	36895090	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	29304	36895090	44300120	7073	31024											
PIP4K2B	8396	broad.mit.edu	37	chr17	36934024	36934024	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcccttcattgaggaagtcAttgtctttgaatgttggcaa	10	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:36934024A>G	uc002hqs.2	-	7	1204	c.723T>C	c.(721-723)AAT>AAC	p.N241N	PIP4K2B_uc010wdt.1_Silent_p.N241N|PIP4K2B_uc010wdu.1_Silent_p.N177N	NM_003559	NP_003550	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	241	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			ovary(1)	1						TGAGGAAGTCATTGTCTTTGA	0.493													G	36934024	A	G	36934024	2	3	27	1	0	0	0	0	0	0	0	1	11937	214	8	3		3	PIP4K2B	17	36934024	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	38934	36934024	44261186	7074	31025											
PLXDC1	57125	broad.mit.edu	37	chr17	37243861	37243861	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggaatgacccctactcactCggcaatggggtgaactccac	10	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:37243861C>T	uc002hrg.2	-	8	1118	c.906G>A	c.(904-906)CCG>CCA	p.P302P	uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Silent_p.P10P|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1 precursor	302	Extracellular (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)|skin(1)	3						CCTACTCACTCGGCAATGGGG	0.358													T	37243861	C	T	37243861	2	4	27	1	0	0	0	0	0	0	0	1	12117	898	31	1		1	PLXDC1	17	37243861	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	309837	37243861	43951349	7075	31026											
RPL19	6143	broad.mit.edu	37	chr17	37359273	37359273	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtacagccaatgcccgaatGccagagaaggtcacatggat	12	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:37359273G>T	uc002hrq.1	+	4	329	c.267G>T	c.(265-267)ATG>ATT	p.M89I	RPL19_uc002hrr.1_Missense_Mutation_p.M87I	NM_000981	NP_000972	P84098	RL19_HUMAN	ribosomal protein L19	89					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0						ATGCCCGAATGCCAGAGAAGG	0.507													T	37359273	G	T	37359273	3	4	27	1	0	0	0	0	1	0	0	0	13566	1319	46	5	281	5	RPL19	17	37359273	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	115412	37359273	43835937	7076	31027											
FBXL20	84961	broad.mit.edu	37	chr17	37420566	37420566	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagctcaatcacctccagCtggtcatgggcgcaggcccc	10	17	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:37420566C>T	uc010wed.1	-	14	1286	c.1065G>A	c.(1063-1065)CAG>CAA	p.Q355Q	FBXL20_uc002hrt.2_Silent_p.Q355Q|FBXL20_uc010cvu.2_Silent_p.Q323Q	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	355	LRR 11.					cytoplasm				ovary(1)	1			LUAD - Lung adenocarcinoma(14;0.146)			TCACCTCCAGCTGGTCATGGG	0.522													T	37420566	C	T	37420566	2	4	27	1	0	0	0	0	0	0	0	1	5717	796	28	2		2	FBXL20	17	37420566	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	61293	37420566	43774644	7077	31028											
FBXL20	84961	broad.mit.edu	37	chr17	37455285	37455285	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caagacatccacgaagacttAactttcgtaaaaagccccca	5	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:37455285A>T	uc010wed.1	-	5	508	c.287T>A	c.(286-288)TTA>TAA	p.L96*	FBXL20_uc002hrt.2_Nonsense_Mutation_p.L96*|FBXL20_uc010cvu.2_Nonsense_Mutation_p.L96*	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	96	LRR 1.					cytoplasm				ovary(1)	1			LUAD - Lung adenocarcinoma(14;0.146)			ACGAAGACTTAACTTTCGTAA	0.393													T	37455285	A	T	37455285	4	4	27	1	0	0	0	0	0	1	0	0	5717	372	13	5	1067	5	FBXL20	17	37455285	Nonsense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	34719	37455285	43739925	7078	31029											
MED1	5469	broad.mit.edu	37	chr17	37565253	37565253	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagaggaaggcttgcccAccatcactgttcccttagga	11	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:37565253A>G	uc002hrv.3	-	17	3433	c.3221T>C	c.(3220-3222)GTG>GCG	p.V1074A	MED1_uc010wee.1_Missense_Mutation_p.V902A|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1074					androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AGGCTTGCCCACCATCACTGT	0.512										HNSCC(31;0.082)			G	37565253	A	G	37565253	3	3	27	1	0	0	0	0	1	0	0	0	9425	159	6	3	1528	3	MED1	17	37565253	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	109968	37565253	43629957	7079	31030											
MED1	5469	broad.mit.edu	37	chr17	37566692	37566692	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgagacaccttgctgaaGtcctccccatggcccaccga	8	16	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:37566692G>A	uc002hrv.3	-	17	1994	c.1782C>T	c.(1780-1782)GAC>GAT	p.D594D	MED1_uc010wee.1_Silent_p.D422D|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	594	Interaction with THRA.|Interaction with VDR.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CCTTGCTGAAGTCCTCCCCAT	0.527										HNSCC(31;0.082)			A	37566692	G	A	37566692	2	1	27	1	0	0	0	0	0	0	0	1	9425	1020	36	4		4	MED1	17	37566692	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1439	37566692	43628518	7080	31031											
PSMD3	5709	broad.mit.edu	37	chr17	38142913	38142913	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctgaagtggaagcctAtctccaactcctcgtggtca	9	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:38142913A>G	uc002htn.1	+	3	661	c.497A>G	c.(496-498)TAT>TGT	p.Y166C	PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Missense_Mutation_p.Y67C	NM_002809	NP_002800	O43242	PSMD3_HUMAN	proteasome 26S non-ATPase subunit 3	166					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			ovary(1)|pancreas(1)	2	Colorectal(19;0.000442)					GTGGAAGCCTATCTCCAACTC	0.537													G	38142913	A	G	38142913	3	3	27	1	0	0	0	0	1	0	0	0	12699	449	16	3	507	3	PSMD3	17	38142913	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	576221	38142913	43052297	7081	31032											
IGFBP4	3487	broad.mit.edu	37	chr17	38612755	38612755	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgtgtggaccggaagAcgggggtgaagcttccgggg	21	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:38612755A>T	uc002hus.2	+	4	1009	c.697A>T	c.(697-699)ACG>TCG	p.T233S		NM_001552	NP_001543	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	233	Thyroglobulin type-1.				DNA metabolic process|signal transduction|skeletal system development						0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGACCGGAAGACGGGGGTGAA	0.637													T	38612755	A	T	38612755	3	4	27	1	0	0	0	0	1	0	0	0	7581	275	10	5	711	5	IGFBP4	17	38612755	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	469842	38612755	42582455	7082	31033											
TNS4	84951	broad.mit.edu	37	chr17	38643669	38643669	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actttccaaggatctggaagAtgactgatggctggagttgc	13	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:38643669A>T	uc010cxb.2	-	4	1071	c.907T>A	c.(907-909)TCT>ACT	p.S303T		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	303	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GATCTGGAAGATGACTGATGG	0.587													T	38643669	A	T	38643669	3	4	27	1	0	0	0	0	1	0	0	0	16342	333	12	5	1280	5	TNS4	17	38643669	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	30914	38643669	42551541	7083	31034											
KRT222	125113	broad.mit.edu	37	chr17	38818272	38818272	+	Frame_Shift_Del	DEL	T	T	-													agcctcttcatctttgtccaTttttttgcttatgtcttctt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:38818271_38818271AT>A	uc002hvc.2	-	1	187	c.122_122AT>T	c.(121-123)atgfs	p.M41fs	KRT222_uc002hvb.2_Frame_Shift_Del_p.M1fs|KRT222_uc010cxc.3_Frame_Shift_Del_p.M1fs	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	41						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						ATCTTTGTCCATTTTTTTGCT	0.428													-	38818272	T	-	38818272	7	5	27	1	0	1	0	1	0	0	0	0	8459	1493	52	0	786	0	KRT222	17	38818272	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	174603	38818272	42376938	7084	31035											
KRT24	192666	broad.mit.edu	37	chr17	38859802	38859802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccactcaggctgcagctGctggctcctcctcggaagcc	10	19	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:38859802G>A	uc002hvd.2	-	1	201	c.144C>T	c.(142-144)AGC>AGT	p.S48S		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	keratin 24	48	Head.|Gly-rich.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)				GGCTGCAGCTGCTGGCTCCTC	0.642													A	38859802	G	A	38859802	2	1	27	1	0	0	0	0	0	0	0	1	8461	1310	46	2		2	KRT24	17	38859802	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	41530	38859802	42335408	7085	31036											
KRT25	147183	broad.mit.edu	37	chr17	38907439	38907439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcgttgaaccaggcctccGcgtccctgcggttctgctct	10	16	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:38907439G>A	uc002hve.2	-	4	870	c.809C>T	c.(808-810)GCG>GTG	p.A270V		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	270	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)				CCAGGCCTCCGCGTCCCTGCG	0.532													A	38907439	G	A	38907439	3	1	27	1	0	0	0	0	1	0	0	0	8462	1087	38	1	563	1	KRT25	17	38907439	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	47637	38907439	42287771	7086	31037											
KRT28	162605	broad.mit.edu	37	chr17	38953225	38953225	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagggtgcgcctcatctcGgtgagctggctccgggcgaa	16	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:38953225G>A	uc002hvh.1	-	5	987	c.921C>T	c.(919-921)ACC>ACT	p.T307T		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	307	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				GCCTCATCTCGGTGAGCTGGC	0.617													A	38953225	G	A	38953225	2	1	27	1	0	0	0	0	0	0	0	1	8465	1103	39	1		1	KRT28	17	38953225	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	45786	38953225	42241985	7087	31038											
KRT20	54474	broad.mit.edu	37	chr17	39036904	39036904	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggagagctaggtctttatTcagttcttcaatttgaatct	9	6	5	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:39036904T>C	uc002hvl.2	-	3	634	c.592A>G	c.(592-594)AAT>GAT	p.N198D		NM_019010	NP_061883	P35900	K1C20_HUMAN	keratin 20	198	Coil 1B.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			large_intestine(1)|kidney(1)|skin(1)	3		Breast(137;0.000301)|Ovarian(249;0.15)				AGGTCTTTATTCAGTTCTTCA	0.363													C	39036904	T	C	39036904	3	2	27	1	0	0	0	0	1	0	0	0	8458	1783	62	3	706	3	KRT20	17	39036904	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	83679	39036904	42158306	7088	31039											
KRT39	390792	broad.mit.edu	37	chr17	39114896	39114896	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacaaggctgcacatgcTcgtaagaagaaatgaccttc	9	9	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:39114896T>A	uc002hvo.1	-	7	1469	c.1433A>T	c.(1432-1434)GAG>GTG	p.E478V	KRT39_uc010wfm.1_Missense_Mutation_p.E211V	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	478	Tail.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)				CTGCACATGCTCGTAAGAAGA	0.473													A	39114896	T	A	39114896	3	1	27	1	0	0	0	0	1	0	0	0	8476	1551	54	5	46	5	KRT39	17	39114896	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	77992	39114896	42080314	7089	31040											
KRT39	390792	broad.mit.edu	37	chr17	39122754	39122754	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagttcagcattctctcGttctagcattcgcacctttt	5	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:39122754G>A	uc002hvo.1	-	1	391	c.355C>T	c.(355-357)CGA>TGA	p.R119*	KRT39_uc010wfm.1_Translation_Start_Site	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	119	Coil 1A.|Rod.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)				GCATTCTCTCGTTCTAGCATT	0.443													A	39122754	G	A	39122754	4	1	27	1	0	0	0	0	0	1	0	0	8476	1153	40	1	1148	1	KRT39	17	39122754	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	7858	39122754	42072456	7090	31041											
KRT40	125115	broad.mit.edu	37	chr17	39137109	39137109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttccaagatctccatctgGcagccctgcagctgctccgc	9	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:39137109G>A	uc010cxh.1	-	7	1064	c.903C>T	c.(901-903)TGC>TGT	p.C301C	KRT40_uc002hvq.1_RNA	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	type I hair keratin KA36	301	Rod.|Coil 2.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)				TCTCCATCTGGCAGCCCTGCA	0.522													A	39137109	G	A	39137109	2	1	27	1	0	0	0	0	0	0	0	1	8478	1195	42	2		2	KRT40	17	39137109	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	14355	39137109	42058101	7091	31042											
KRT33A	3883	broad.mit.edu	37	chr17	39503440	39503440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccacctccacgttgaggCggtctccaagctggcagcgc	12	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:39503440C>T	uc002hwk.1	-	4	660	c.623G>A	c.(622-624)CGC>CAC	p.R208H		NM_004138	NP_004129	O76009	KT33A_HUMAN	keratin 33A	208	Linker 12.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)				CACGTTGAGGCGGTCTCCAAG	0.532													T	39503440	C	T	39503440	3	4	27	1	0	0	0	0	1	0	0	0	8469	768	27	1	607	1	KRT33A	17	39503440	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	366331	39503440	41691770	7092	31043											
KRT33A	3883	broad.mit.edu	37	chr17	39506948	39506948	+	Frame_Shift_Del	DEL	G	G	-													agggtgcagccgtggcagctGgggggcacacagggccggga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:39506947_39506947TG>T	uc002hwk.1	-	0	110	c.73_73CA>A	c.(73-75)agcfs	p.S25fs		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	25	Head.					intermediate filament	protein binding|structural molecule activity	p.P24T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CCGTGGCAGCTGGGGGGCACA	0.642													-	39506948	G	-	39506948	7	5	27	1	0	1	0	1	0	0	0	0	8469	1335	47	0	1170	0	KRT33A	17	39506948	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	3508	39506948	41688262	7093	31044											
KRT34	3885	broad.mit.edu	37	chr17	39535677	39535677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcgatgatctccgcctgGcaggactgcagctgctctga	12	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:39535677G>A	uc002hwm.2	-	5	942	c.930C>T	c.(928-930)TGC>TGT	p.C310C		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	310	Rod.|Coil 2.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)				TCTCCGCCTGGCAGGACTGCA	0.592													A	39535677	G	A	39535677	2	1	27	1	0	0	0	0	0	0	0	1	8471	1195	42	2		2	KRT34	17	39535677	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	28729	39535677	41659533	7094	31045											
KRT38	8687	broad.mit.edu	37	chr17	39596974	39596974	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtaggcggcagacagAggctggggcggcccagggga	22	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:39596974A>G	uc002hwq.1	-	1	623	c.200T>C	c.(199-201)CTC>CCC	p.L67P		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	67	Head.					intermediate filament	structural molecule activity			skin(2)	2		Breast(137;0.000496)				CGGCAGACAGAGGCTGGGGCG	0.627													G	39596974	A	G	39596974	3	3	27	1	0	0	0	0	1	0	0	0	8475	304	11	3	1198	3	KRT38	17	39596974	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	61297	39596974	41598236	7095	31046											
KRT32	3882	broad.mit.edu	37	chr17	39623459	39623459	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgccatgggctggcagAcatagcccaggcacagctca	13	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:39623459A>G	uc002hwr.2	-	1	180	c.119T>C	c.(118-120)GTC>GCC	p.V40A		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32	40	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)				GGGCTGGCAGACATAGCCCAG	0.632													G	39623459	A	G	39623459	3	3	27	1	0	0	0	0	1	0	0	0	8468	275	10	3	1255	3	KRT32	17	39623459	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	26485	39623459	41571751	7096	31047											
KRT14	3861	broad.mit.edu	37	chr17	39740076	39740076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcttctcatactggtcaCgcatctcgttcagaatgcgg	8	13	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:39740076C>T	uc002hxf.1	-	4	924	c.863G>A	c.(862-864)CGT>CAT	p.R288H	JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.R288H	NM_000526	NP_000517	P02533	K1C14_HUMAN	keratin 14	288	Rod.|Coil 2.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.000307)				ATACTGGTCACGCATCTCGTT	0.557													T	39740076	C	T	39740076	3	4	27	1	0	0	0	0	1	0	0	0	8451	536	19	1	575	1	KRT14	17	39740076	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	116617	39740076	41455134	7097	31048											
JUP	3728	broad.mit.edu	37	chr17	39921283	39921283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagttacgcatgatctgcaCgagggcctggggcccaccat	13	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:39921283C>T	uc002hxq.2	-	6	1223	c.946G>A	c.(946-948)GTG>ATG	p.V316M	JUP_uc010wfs.1_Intron|JUP_uc002hxr.2_Missense_Mutation_p.V316M|JUP_uc002hxs.2_Missense_Mutation_p.V316M	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	316					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		ATGATCTGCACGAGGGCCTGG	0.537													T	39921283	C	T	39921283	3	4	27	1	0	0	0	0	1	0	0	0	7972	536	19	1	1327	1	JUP	17	39921283	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	181207	39921283	41273927	7098	31049											
FKBP10	60681	broad.mit.edu	37	chr17	39974715	39974715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccaggggctgctgggcatGtgtcctggagagagaaggaa	18	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:39974715G>A	uc002hxv.2	+	4	988	c.663G>A	c.(661-663)ATG>ATA	p.M221I	FKBP10_uc002hxw.1_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10 precursor	221	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		TGCTGGGCATGTGTCCTGGAG	0.552													A	39974715	G	A	39974715	3	1	27	1	0	0	0	0	1	0	0	0	5902	1377	48	4	677	4	FKBP10	17	39974715	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	53432	39974715	41220495	7099	31050											
FKBP10	60681	broad.mit.edu	37	chr17	39977960	39977960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtggagctggtgtcccGggaggatgggctgcccacag	19	9	0	1	rs144314381	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:39977960G>A	uc002hxv.2	+	9	1779	c.1454G>A	c.(1453-1455)CGG>CAG	p.R485Q	FKBP10_uc002hxw.1_Missense_Mutation_p.R249Q	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10 precursor	485	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CTGGTGTCCCGGGAGGATGGG	0.632													A	39977960	G	A	39977960	3	1	27	1	0	0	0	0	1	0	0	0	5902	1116	39	1	1488	1	FKBP10	17	39977960	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3245	39977960	41217250	7100	31051											
KLHL10	317719	broad.mit.edu	37	chr17	40001942	40001942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatcaatggacactcatcGcccccatgcacgaacagagg	8	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:40001942G>A	uc010cxr.2	+	3	1391	c.1249G>A	c.(1249-1251)GCC>ACC	p.A417T	KLHL10_uc010wfv.1_Missense_Mutation_p.A411T|KLHL10_uc010wfw.1_Missense_Mutation_p.A329T	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	417	Kelch 3.					cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)				GACACTCATCGCCCCCATGCA	0.498													A	40001942	G	A	40001942	3	1	27	1	0	0	0	0	1	0	0	0	8366	1087	38	1	1259	1	KLHL10	17	40001942	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	23982	40001942	41193268	7101	31052											
DNAJC7	7266	broad.mit.edu	37	chr17	40134398	40134398	+	Frame_Shift_Del	DEL	T	T	-													tcttcagttccagctgcgcaTtttttaggagctgtttgtgt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:40134397_40134397AT>A	uc002hyo.3	-	10	1388	c.1107_1107AT>T	c.(1105-1107)aatfs	p.N369fs	DNAJC7_uc010wgb.2_Frame_Shift_Del_p.N313fs|DNAJC7_uc002hyp.3_Frame_Shift_Del_p.N313fs|DNAJC7_uc010wgc.2_Frame_Shift_Del_p.N227fs	NM_003315	NP_001138238	Q99615	DNJC7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 7 (DNAJC7), transcript variant 1, mRNA.	369					chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				CCAGCTGCGCATTTTTTAGGA	0.463													-	40134398	T	-	40134398	7	5	27	1	0	1	0	1	0	0	0	0	4654	1493	52	0	394	0	DNAJC7	17	40134398	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	132456	40134398	41060812	7102	31053											
DNAJC7	7266	broad.mit.edu	37	chr17	40141535	40141535	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaaagacctcgtacatAcagagcatctgcattggtgg	11	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:40141535A>G	uc002hyo.2	-	7	877	c.640T>C	c.(640-642)TAT>CAT	p.Y214H	DNAJC7_uc010cxu.2_Missense_Mutation_p.Y158H|DNAJC7_uc010cxv.2_Missense_Mutation_p.Y158H|DNAJC7_uc010wgb.1_Missense_Mutation_p.Y158H|DNAJC7_uc010wgc.1_Missense_Mutation_p.Y72H|DNAJC7_uc002hyp.2_Missense_Mutation_p.Y158H|DNAJC7_uc010cxw.2_RNA	NM_003315	NP_003306	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	214	TPR 6.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			ovary(1)	1		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				CCTCGTACATACAGAGCATCT	0.458													G	40141535	A	G	40141535	3	3	27	1	0	0	0	0	1	0	0	0	4654	391	14	3	876	3	DNAJC7	17	40141535	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	7137	40141535	41053675	7103	31054											
GHDC	84514	broad.mit.edu	37	chr17	40344600	40344600	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgtccagcagcagggccCtagggtccttggttccaggg	16	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:40344600C>A	uc002hzd.2	-	4	1032	c.548G>T	c.(547-549)AGG>ATG	p.R183M	GHDC_uc002hzg.1_Missense_Mutation_p.R183M|GHDC_uc010wgg.1_Missense_Mutation_p.R144M|GHDC_uc002hze.3_Missense_Mutation_p.R183M|GHDC_uc002hzf.3_Missense_Mutation_p.R183M|GHDC_uc010cxz.2_RNA	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	LGP1 homolog isoform 1	183						endoplasmic reticulum|nuclear envelope					0		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CAGCAGGGCCCTAGGGTCCTT	0.652													A	40344600	C	A	40344600	3	1	27	1	0	0	0	0	1	0	0	0	6369	681	24	5	1157	5	GHDC	17	40344600	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	203065	40344600	40850610	7104	31055											
STAT5A	6776	broad.mit.edu	37	chr17	40458336	40458336	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaacatgaaattcaaggcCgaagtgcagagcaaccgggg	12	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:40458336C>T	uc002hzj.1	+	14	2193	c.1551C>T	c.(1549-1551)GCC>GCT	p.A517A	STAT5A_uc010cya.1_Silent_p.A517A|STAT5A_uc010cyb.1_Silent_p.A486A|STAT5A_uc010cyc.1_Silent_p.A487A|STAT5A_uc010cyd.1_Silent_p.A5A|STAT5A_uc010cye.1_Silent_p.A5A	NM_003152	NP_003143	P42229	STA5A_HUMAN	signal transducer and activator of transcription	517					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		AATTCAAGGCCGAAGTGCAGA	0.592													T	40458336	C	T	40458336	2	4	27	1	0	0	0	0	0	0	0	1	15267	639	23	1		1	STAT5A	17	40458336	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	113736	40458336	40736874	7105	31056											
ATP6V0A1	535	broad.mit.edu	37	chr17	40666464	40666464	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctcggcctttctccacgcActgcgcttacactggtgagg	10	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:40666464A>G	uc002hzr.2	+	21	2573	c.2406A>G	c.(2404-2406)GCA>GCG	p.A802A	ATP6V0A1_uc002hzq.2_Silent_p.A796A|ATP6V0A1_uc002hzs.2_Silent_p.A803A|ATP6V0A1_uc010wgj.1_Silent_p.A759A|ATP6V0A1_uc010wgk.1_Silent_p.A753A|ATP6V0A1_uc010cyg.2_Silent_p.A448A|ATP6V0A1_uc010wgl.1_Silent_p.A661A|ATP6V0A1_uc002hzt.2_Silent_p.A86A	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	802	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TTCTCCACGCACTGCGCTTAC	0.622													G	40666464	A	G	40666464	2	3	27	1	0	0	0	0	0	0	0	1	1168	146	6	3		3	ATP6V0A1	17	40666464	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	208128	40666464	40528746	7106	31057											
CNTNAP1	8506	broad.mit.edu	37	chr17	40839038	40839038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcgcagacctggccgtgCggcgccattcccggatcacc	11	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:40839038C>T	uc002iay.2	+	7	1234	c.1018C>T	c.(1018-1020)CGG>TGG	p.R340W	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	340	Laminin G-like 1.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CCTGGCCGTGCGGCGCCATTC	0.612													T	40839038	C	T	40839038	3	4	27	1	0	0	0	0	1	0	0	0	3646	759	27	1	1044	1	CNTNAP1	17	40839038	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	172574	40839038	40356172	7107	31058											
CNTNAP1	8506	broad.mit.edu	37	chr17	40840482	40840482	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatccattcttgtccagggTaccgactgaatgacggcttt	9	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:40840482T>C	uc002iay.2	+	9	1525	c.1309T>C	c.(1309-1311)TAC>CAC	p.Y437H	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	437	Laminin G-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TTGTCCAGGGTACCGACTGAA	0.522													C	40840482	T	C	40840482	3	2	27	1	0	0	0	0	1	0	0	0	3646	1638	57	3	1343	3	CNTNAP1	17	40840482	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1444	40840482	40354728	7108	31059											
WNK4	65266	broad.mit.edu	37	chr17	40937321	40937321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggcccacgccttcttcCgcgaggagcgcggtgtgcac	13	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:40937321C>T	uc002ibj.2	+	6	1318	c.1297C>T	c.(1297-1299)CGC>TGC	p.R433C	WNK4_uc010wgx.1_Missense_Mutation_p.R97C|WNK4_uc002ibk.1_Missense_Mutation_p.R205C|WNK4_uc010wgy.1_5'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	433					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CGCCTTCTTCCGCGAGGAGCG	0.537													T	40937321	C	T	40937321	3	4	27	1	0	0	0	0	1	0	0	0	17377	652	23	1	1319	1	WNK4	17	40937321	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	96839	40937321	40257889	7109	31060											
WNK4	65266	broad.mit.edu	37	chr17	40939870	40939870	+	Frame_Shift_Del	DEL	G	G	-													accctgcccttcagccccctGggggggtgccatccagcctg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:40939869_40939869TG>T	uc002ibj.3	+	7	1883	c.1815_1815TG>T	c.(1813-1815)cctfs	p.P605fs	WNK4_uc010wgx.2_Frame_Shift_Del_p.P269fs|WNK4_uc002ibk.1_Frame_Shift_Del_p.P377fs|WNK4_uc010wgy.1_Intron	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	605					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.L605I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCAGCCCCCTGGGGGGGTGC	0.632													-	40939870	G	-	40939870	7	5	27	1	0	1	0	1	0	0	0	0	17377	1348	47	0	1846	0	WNK4	17	40939870	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	2549	40939870	40255340	7110	31061											
PSME3	10197	broad.mit.edu	37	chr17	40990148	40990148	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaatgggatgctgaaaAgcaaccagcagctggtggac	13	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:40990148A>G	uc002ibr.2	+	6	557	c.331A>G	c.(331-333)AGC>GGC	p.S111G	PSME3_uc002ibp.2_Missense_Mutation_p.S50G|PSME3_uc002ibq.2_Missense_Mutation_p.S111G|PSME3_uc002ibs.2_Missense_Mutation_p.S122G|PSME3_uc010whd.1_Intron	NM_005789	NP_005780	P61289	PSME3_HUMAN	proteasome activator subunit 3 isoform 1	111					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding				0		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GATGCTGAAAAGCAACCAGCA	0.507													G	40990148	A	G	40990148	3	3	27	1	0	0	0	0	1	0	0	0	12708	72	3	3	353	3	PSME3	17	40990148	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	50278	40990148	40205062	7111	31062											
AOC3	8639	broad.mit.edu	37	chr17	41004027	41004027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtctgcaatcaggggacCgggccacctggtttggcctc	15	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:41004027C>T	uc002ibv.2	+	1	827	c.667C>T	c.(667-669)CGG>TGG	p.R223W		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	223	Extracellular (Potential).				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			central_nervous_system(2)|ovary(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	ATCAGGGGACCGGGCCACCTG	0.612													T	41004027	C	T	41004027	3	4	27	1	0	0	0	0	1	0	0	0	728	643	23	1	669	1	AOC3	17	41004027	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	13879	41004027	40191183	7112	31063											
AARSD1	80755	broad.mit.edu	37	chr17	41108275	41108275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacatgttggaatcaacGccctcgatgttaacaacccg	8	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:41108275G>A	uc002icc.2	-	6	612	c.609C>T	c.(607-609)GGC>GGT	p.G203G	AARSD1_uc002icd.2_Silent_p.G316G|AARSD1_uc002ice.2_Silent_p.G286G|AARSD1_uc002icf.2_Silent_p.G377G|AARSD1_uc010whg.1_Silent_p.G377G|AARSD1_uc010cyu.1_Silent_p.G203G	NM_025267	NP_079543	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	203					alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding				0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TGGAATCAACGCCCTCGATGT	0.557													A	41108275	G	A	41108275	2	1	27	1	0	0	0	0	0	0	0	1	21	1074	38	1		1	AARSD1	17	41108275	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	104248	41108275	40086935	7113	31064											
VAT1	10493	broad.mit.edu	37	chr17	41170164	41170164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgctggccgaggccgttcCgaacactgtcacattctcca	9	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:41170164C>T	uc002icm.1	-	3	775	c.655G>A	c.(655-657)GGA>AGA	p.G219R	VAT1_uc010cyw.1_Missense_Mutation_p.G85R|VAT1_uc010whk.1_Missense_Mutation_p.G151R	NM_006373	NP_006364	Q99536	VAT1_HUMAN	vesicle amine transport protein 1	219						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding				0		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GAGGCCGTTCCGAACACTGTC	0.562													T	41170164	C	T	41170164	3	4	27	1	0	0	0	0	1	0	0	0	17126	661	23	1	542	1	VAT1	17	41170164	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	61889	41170164	40025046	7114	31065											
BRCA1	672	broad.mit.edu	37	chr17	41246804	41246804	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagctgcacgcttctcagtGgtgttcaaatcattattact	7	10	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:41246804G>T	uc002icq.2	-	10	976	c.744C>A	c.(742-744)ACC>ACA	p.T248T	BRCA1_uc010whp.1_Silent_p.T201T|BRCA1_uc010whl.1_Silent_p.T248T|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Silent_p.T177T|BRCA1_uc002icu.2_Silent_p.T248T|BRCA1_uc010cyx.2_Silent_p.T201T|BRCA1_uc002ict.2_Silent_p.T248T|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Silent_p.T80T|BRCA1_uc002idc.1_Silent_p.T247T|BRCA1_uc010whr.1_Silent_p.T201T|BRCA1_uc002idd.2_Silent_p.T248T|BRCA1_uc002ide.1_Silent_p.T79T|BRCA1_uc010cyy.1_Silent_p.T248T|BRCA1_uc010whs.1_Silent_p.T248T|BRCA1_uc010cyz.2_Silent_p.T201T|BRCA1_uc010cza.2_Silent_p.T222T|BRCA1_uc010wht.1_5'UTR	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	248					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCTTCTCAGTGGTGTTCAAAT	0.403			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			T	41246804	G	T	41246804	2	4	27	1	0	0	0	0	0	0	0	1	1498	1335	47	5		5	BRCA1	17	41246804	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	76640	41246804	39948406	7115	31066											
ETV4	2118	broad.mit.edu	37	chr17	41610241	41610241	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttggtagggggctgggagGggttcccggccccctccctg	18	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:41610241G>T	uc002idw.2	-	8	740	c.612C>A	c.(610-612)CCC>CCA	p.P204P	ETV4_uc002idv.2_5'Flank|ETV4_uc010wih.1_Silent_p.P150P|ETV4_uc010czh.2_Silent_p.P203P|ETV4_uc010wii.1_Silent_p.P165P|ETV4_uc002idx.2_Silent_p.P204P|ETV4_uc010wij.1_Silent_p.P165P	NM_001986	NP_001977	P43268	ETV4_HUMAN	ets variant gene 4 (E1A enhancer binding	204	Gln-rich.				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)	bone(4)|soft_tissue(2)|ovary(1)	7		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GGGCTGGGAGGGGTTCCCGGC	0.592			T	EWSR1|TMPRSS2|DDX5|KLK2|CANT1	Ewing sarcoma|Prostate carcinoma								T	41610241	G	T	41610241	2	4	27	1	0	0	0	0	0	0	0	1	5281	1219	43	5		5	ETV4	17	41610241	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	363437	41610241	39584969	7116	31067											
MPP3	4356	broad.mit.edu	37	chr17	41891392	41891392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttacgtggaacagcgacGccaaagtgctgtgggttctc	12	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:41891392G>A	uc002iei.3	-	16	1408	c.1242C>T	c.(1240-1242)GGC>GGT	p.G414G	MPP3_uc002ieh.2_Silent_p.G439G|MPP3_uc002iej.2_RNA	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	414	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GAACAGCGACGCCAAAGTGCT	0.547													A	41891392	G	A	41891392	2	1	27	1	0	0	0	0	0	0	0	1	9735	1074	38	1		1	MPP3	17	41891392	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	281151	41891392	39303818	7117	31068											
MPP3	4356	broad.mit.edu	37	chr17	41903165	41903165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccgcttgtgcaggactgCgatcccgttcacttctcgga	13	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:41903165C>T	uc002iei.3	-	9	734	c.568G>A	c.(568-570)GCA>ACA	p.A190T	MPP3_uc002ieh.2_Missense_Mutation_p.A215T|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Missense_Mutation_p.A190T|MPP3_uc010wik.1_Missense_Mutation_p.A215T	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	190	PDZ.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		TGCAGGACTGCGATCCCGTTC	0.607													T	41903165	C	T	41903165	3	4	27	1	0	0	0	0	1	0	0	0	9735	768	27	1	1237	1	MPP3	17	41903165	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	11773	41903165	39292045	7118	31069											
PPY	5539	broad.mit.edu	37	chr17	42018862	42018862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcatgttgatgtatctaCggagatcagctgcatactgg	11	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:42018862C>T	uc002iep.2	-	2	206	c.161G>A	c.(160-162)CGT>CAT	p.R54H		NM_002722	NP_002713	P01298	PAHO_HUMAN	pancreatic polypeptide preproprotein	54					digestion|protein secretion	extracellular region	hormone activity				0		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GATGTATCTACGGAGATCAGC	0.617													T	42018862	C	T	42018862	3	4	27	1	0	0	0	0	1	0	0	0	12415	536	19	1	138	1	PPY	17	42018862	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	115697	42018862	39176348	7119	31070											
NAGS	162417	broad.mit.edu	37	chr17	42082072	42082072	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtggttctgcgggcagctgCtgtagccccgaggctgagag	17	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:42082072C>A	uc002ies.2	+	1	41	c.41C>A	c.(40-42)GCT>GAT	p.A14D	PYY_uc002ieq.2_5'Flank|NAGS_uc010czn.2_Missense_Mutation_p.A14D|NAGS_uc002iet.2_5'Flank	NM_153006	NP_694551	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	14					arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity				0		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	CGGGCAGCTGCTGTAGCCCCG	0.532													A	42082072	C	A	42082072	3	1	27	1	0	0	0	0	1	0	0	0	10145	797	28	5	43	5	NAGS	17	42082072	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	63210	42082072	39113138	7120	31071											
HDAC5	10014	broad.mit.edu	37	chr17	42162039	42162039	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggctttgcgacctcggAtccgctgccaggaggatcag	15	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:42162039A>T	uc002ifd.1	-	16	2400	c.2189T>A	c.(2188-2190)ATC>AAC	p.I730N	HDAC5_uc002ife.1_Missense_Mutation_p.I730N|HDAC5_uc002iff.1_Missense_Mutation_p.I731N|HDAC5_uc010czp.1_Intron|HDAC5_uc002ifg.1_Missense_Mutation_p.I40N|HDAC5_uc002ifh.2_Missense_Mutation_p.I730N	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	730	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GCGACCTCGGATCCGCTGCCA	0.587											OREG0024450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	42162039	A	T	42162039	3	4	27	1	0	0	0	0	1	0	0	0	7010	333	12	5	1227	5	HDAC5	17	42162039	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	79967	42162039	39033171	7121	31072											
C17orf53	78995	broad.mit.edu	37	chr17	42225348	42225348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaggcacagtcctccagGctgctgctgttacaccccac	10	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:42225348G>A	uc002ifi.1	+	3	362	c.177G>A	c.(175-177)AGG>AGA	p.R59R	C17orf53_uc010czq.1_Silent_p.R59R|C17orf53_uc002ifj.1_Silent_p.R59R|C17orf53_uc002ifk.1_RNA	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	hypothetical protein LOC78995	59											0		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGTCCTCCAGGCTGCTGCTGT	0.617													A	42225348	G	A	42225348	2	1	27	1	0	0	0	0	0	0	0	1	1862	1194	42	2		2	C17orf53	17	42225348	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	63309	42225348	38969862	7122	31073											
C17orf53	78995	broad.mit.edu	37	chr17	42230037	42230037	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccaggcatctgtggaggaGgattttgggcgagggccctg	17	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:42230037G>T	uc002ifi.1	+	5	1526	c.1341G>T	c.(1339-1341)GAG>GAT	p.E447D	C17orf53_uc010czq.1_Missense_Mutation_p.E447D|C17orf53_uc002ifj.1_Intron|C17orf53_uc002ifk.1_Intron	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	hypothetical protein LOC78995	447											0		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTGTGGAGGAGGATTTTGGGC	0.527													T	42230037	G	T	42230037	3	4	27	1	0	0	0	0	1	0	0	0	1862	991	35	5	1359	5	C17orf53	17	42230037	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4689	42230037	38965173	7123	31074											
UBTF	7343	broad.mit.edu	37	chr17	42286718	42286718	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagggtcccttgccctctcAccttaacccagaggtccagg	9	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:42286718A>G	uc002igb.2	-	16	1972	c.1905_splice	c.e16+1	p.K635_splice	UBTF_uc002igc.2_Splice_Site_p.K598_splice|UBTF_uc010czs.2_Splice_Site_p.K635_splice|UBTF_uc002igd.2_Splice_Site_p.K598_splice|UBTF_uc010czt.2_Splice_Site_p.K635_splice	NM_014233	NP_055048	P17480	UBF1_HUMAN	upstream binding transcription factor, RNA						positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TTGCCCTCTCACCTTAACCCA	0.527													G	42286718	A	G	42286718	5	3	27	1	0	0	0	0	0	0	1	0	16906	173	6	3	407	3	UBTF	17	42286718	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	56681	42286718	38908492	7124	31075											
ITGA2B	3674	broad.mit.edu	37	chr17	42463260	42463260	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccttgaaggtttgtaaagTttgggagcctacatttcggg	14	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:42463260T>G	uc002igt.1	-	3	372	c.340A>C	c.(340-342)ACT>CCT	p.T114P		NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	114	Extracellular (Potential).|FG-GAP 2.				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GTTTGTAAAGTTTGGGAGCCT	0.617													G	42463260	T	G	42463260	3	3	27	1	0	0	0	0	1	0	0	0	7876	1725	60	5	2891	5	ITGA2B	17	42463260	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	176542	42463260	38731950	7125	31076											
GPATCH8	23131	broad.mit.edu	37	chr17	42477141	42477141	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacccccaccttcatccttTttgccactgctcccctcttc	2	22	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:42477141T>C	uc002igw.1	-	8	2368	c.2304A>G	c.(2302-2304)AAA>AAG	p.K768K	GPATCH8_uc002igv.1_Silent_p.K690K|GPATCH8_uc010wiz.1_Silent_p.K690K	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	768						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTTCATCCTTTTTGCCACTGC	0.592													C	42477141	T	C	42477141	2	2	27	1	0	0	0	0	0	0	0	1	6594	1838	64	3		3	GPATCH8	17	42477141	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	13881	42477141	38718069	7126	31077											
GPATCH8	23131	broad.mit.edu	37	chr17	42478681	42478681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaagggcctcctttatctGtggagaattcagatcccagg	11	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:42478681G>A	uc002igw.1	-	8	828	c.764C>T	c.(763-765)ACA>ATA	p.T255I	GPATCH8_uc002igv.1_Missense_Mutation_p.T177I|GPATCH8_uc010wiz.1_Missense_Mutation_p.T177I	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	255						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TCCTTTATCTGTGGAGAATTC	0.488													A	42478681	G	A	42478681	3	1	27	1	0	0	0	0	1	0	0	0	6594	1377	48	4	3748	4	GPATCH8	17	42478681	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1540	42478681	38716529	7127	31078											
EFTUD2	9343	broad.mit.edu	37	chr17	42937909	42937909	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacggttcacctcgatgtggTacctgaagcaatgtccaata	9	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:42937909T>C	uc002ihn.2	-	17	1871	c.1610A>G	c.(1609-1611)TAC>TGC	p.Y537C	EFTUD2_uc010wje.1_Missense_Mutation_p.Y502C|EFTUD2_uc010wjf.1_Missense_Mutation_p.Y527C	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	537						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				CTCGATGTGGTACCTGAAGCA	0.378													C	42937909	T	C	42937909	3	2	27	1	0	0	0	0	1	0	0	0	4961	1638	57	3	1356	3	EFTUD2	17	42937909	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	459228	42937909	38257301	7128	31079											
C1QL1	10882	broad.mit.edu	37	chr17	43044935	43044935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtaaacttgccgctggccGcgtcgtagttgttgcctagg	13	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:43044935G>A	uc002ihv.2	-	1	710	c.482C>T	c.(481-483)GCG>GTG	p.A161V		NM_006688	NP_006679	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	161	C1q.				locomotory behavior	collagen					0		Prostate(33;0.155)				GCCGCTGGCCGCGTCGTAGTT	0.602													A	43044935	G	A	43044935	3	1	27	1	0	0	0	0	1	0	0	0	1958	1087	38	1	302	1	C1QL1	17	43044935	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	107026	43044935	38150275	7129	31080											
PLCD3	113026	broad.mit.edu	37	chr17	43190323	43190323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccacaaaccggaccagtGccagctccggagcccgcagc	10	19	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:43190323G>A	uc002iib.2	-	15	2303	c.2189C>T	c.(2188-2190)GCA>GTA	p.A730V		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	730	C2.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	CCGGACCAGTGCCAGCTCCGG	0.622													A	43190323	G	A	43190323	3	1	27	1	0	0	0	0	1	0	0	0	12032	1319	46	2	188	2	PLCD3	17	43190323	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	145388	43190323	38004887	7130	31081											
C17orf46	124783	broad.mit.edu	37	chr17	43333338	43333338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctctgactccagtaaagCcggcacctgtccgatctcca	8	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:43333338C>T	uc002iis.1	-	4	307	c.211G>A	c.(211-213)GCT>ACT	p.A71T	LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Missense_Mutation_p.A50T	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	hypothetical protein LOC124783	71										large_intestine(1)|ovary(1)	2						TCCAGTAAAGCCGGCACCTGT	0.488													T	43333338	C	T	43333338	3	4	27	1	0	0	0	0	1	0	0	0	1857	739	26	2	951	2	C17orf46	17	43333338	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	143015	43333338	37861872	7131	31082											
IMP5	162540	broad.mit.edu	37	chr17	43923692	43923692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcccgtcagatctacttcGtggcctgcaccgtggcctat	10	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:43923692G>A	uc010wka.1	+	1	1420	c.1420G>A	c.(1420-1422)GTG>ATG	p.V474M	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	474	Helical; (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		GATCTACTTCGTGGCCTGCAC	0.572													A	43923692	G	A	43923692	3	1	27	1	0	0	0	0	1	0	0	0	7721	1145	40	1	1422	1	IMP5	17	43923692	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	590354	43923692	37271518	7132	31083											
MAPT	4137	broad.mit.edu	37	chr17	44061147	44061147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcatttgggaagggctgCatttccaggggcccctggag	17	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:44061147C>T	uc002ijr.3	+	6	1297	c.977C>T	c.(976-978)GCA>GTA	p.A326V	MAPT_uc010dau.2_Missense_Mutation_p.A326V|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	326					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)				GGAAGGGCTGCATTTCCAGGG	0.612													T	44061147	C	T	44061147	3	4	27	1	0	0	0	0	1	0	0	0	9297	710	25	2	995	2	MAPT	17	44061147	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	137455	44061147	37134063	7133	31084											
KIAA1267	284058	broad.mit.edu	37	chr17	44116579	44116579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggtttggtgatgggacaGctctgaagaggggaacagaa	17	6	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:44116579G>A	uc002ikb.2	-	8	2291	c.2206C>T	c.(2206-2208)CTG>TTG	p.L736L	KIAA1267_uc002ikc.2_Silent_p.L736L|KIAA1267_uc002ikd.2_Silent_p.L736L|KIAA1267_uc010dav.2_Silent_p.L736L|KIAA1267_uc010wkb.1_Silent_p.L67L|KIAA1267_uc010wkc.1_Intron	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	736						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				TGATGGGACAGCTCTGAAGAG	0.532													A	44116579	G	A	44116579	2	1	27	1	0	0	0	0	0	0	0	1	8219	962	34	2		2	KIAA1267	17	44116579	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	55432	44116579	37078631	7134	31085											
KIAA1267	284058	broad.mit.edu	37	chr17	44248979	44248979	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgagagcccgttttcccccAttgagggaagtggaattgtc	13	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:44248979A>G	uc002ikb.2	-	1	616	c.531T>C	c.(529-531)AAT>AAC	p.N177N	KIAA1267_uc002ikc.2_Silent_p.N177N|KIAA1267_uc002ikd.2_Silent_p.N177N|KIAA1267_uc010dav.2_Silent_p.N177N	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	177						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				GTTTTCCCCCATTGAGGGAAG	0.478													G	44248979	A	G	44248979	2	3	27	1	0	0	0	0	0	0	0	1	8219	214	8	3		3	KIAA1267	17	44248979	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	132400	44248979	36946231	7135	31086											
LRRC37A2	474170	broad.mit.edu	37	chr17	44626418	44626418	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcgtacatgccagaaaaaaaTaccgctttcacaaaactcgc	5	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:44626418T>A	uc002ikn.1	+	9	3916	c.3913T>A	c.(3913-3915)TAC>AAC	p.Y1305N	ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Missense_Mutation_p.Y266N|LRRC37A2_uc010dax.1_Missense_Mutation_p.Y235N	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN	c114 SLIT-like testicular protein precursor	1305	Extracellular (Potential).					integral to membrane					0		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CAGAAAAAAATACCGCTTTCA	0.408													A	44626418	T	A	44626418	3	1	27	1	0	0	0	0	1	0	0	0	8992	1406	49	5	3947	5	LRRC37A2	17	44626418	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	377439	44626418	36568792	7136	31087											
MRPL10	124995	broad.mit.edu	37	chr17	45904545	45904545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactgctgctatctcccggCggagaagcctgatgaggcct	12	12	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:45904545C>T	uc002ilz.2	-	3	274	c.248G>A	c.(247-249)CGC>CAC	p.R83H	MRPL10_uc010wky.1_Missense_Mutation_p.R44H|MRPL10_uc002ily.2_Missense_Mutation_p.R93H	NM_145255	NP_660298	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10 precursor	83					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			ovary(1)	1						TATCTCCCGGCGGAGAAGCCT	0.542													T	45904545	C	T	45904545	3	4	27	1	0	0	0	0	1	0	0	0	9775	768	27	1	549	1	MRPL10	17	45904545	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1278127	45904545	35290665	7137	31088											
LRRC46	90506	broad.mit.edu	37	chr17	45909496	45909496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggtccagaggaaggggGcgtctgcatcactgaagccc	15	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:45909496G>A	uc002ima.2	+	2	297	c.41G>A	c.(40-42)GGC>GAC	p.G14D	MRPL10_uc010wky.1_5'Flank|MRPL10_uc002ilz.2_5'Flank|MRPL10_uc002ily.2_5'Flank|LRRC46_uc002imb.2_5'UTR	NM_033413	NP_219481	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	14										ovary(1)	1						GAGGAAGGGGGCGTCTGCATC	0.532													A	45909496	G	A	45909496	3	1	27	1	0	0	0	0	1	0	0	0	9003	1203	42	2	47	2	LRRC46	17	45909496	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4951	45909496	35285714	7138	31089											
CDK5RAP3	80279	broad.mit.edu	37	chr17	46057957	46057957	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaatctttcttctgtcctcAgcttgagatcttcttagccc	5	14	6	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:46057957A>T	uc002imr.2	+	12	1162	c.1078_splice	c.e12-2	p.L360_splice	CDK5RAP3_uc010wlc.1_Splice_Site_p.L380_splice|CDK5RAP3_uc002imq.1_Splice_Site_p.L135_splice|CDK5RAP3_uc002imu.2_Splice_Site_p.L204_splice|CDK5RAP3_uc002ims.2_Splice_Site_p.L273_splice|CDK5RAP3_uc002imv.2_Splice_Site_p.L204_splice|CDK5RAP3_uc002imw.2_Splice_Site_p.L202_splice|CDK5RAP3_uc002imx.2_Splice_Site_p.L135_splice	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3						brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding				0						TTCTGTCCTCAGCTTGAGATC	0.338													T	46057957	A	T	46057957	5	4	27	1	0	0	0	0	0	0	1	0	3147	202	7	5	1122	5	CDK5RAP3	17	46057957	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	148461	46057957	35137253	7139	31090											
CBX1	10951	broad.mit.edu	37	chr17	46153532	46153532	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcttctggctcccatgtgTtgtcctcactgaaaccagag	8	13	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:46153532T>C	uc002ind.3	-	3	630	c.149A>G	c.(148-150)AAC>AGC	p.N50S	CBX1_uc002ine.3_Missense_Mutation_p.N50S	NM_006807	NP_006798	P83916	CBX1_HUMAN	heterochromatin protein 1-beta	50	Chromo 1.					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding				0						CTCCCATGTGTTGTCCTCACT	0.463													C	46153532	T	C	46153532	3	2	27	1	0	0	0	0	1	0	0	0	2717	1725	60	3	420	3	CBX1	17	46153532	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	95575	46153532	35041678	7140	31091											
HOXB1	3211	broad.mit.edu	37	chr17	46607839	46607839	+	Frame_Shift_Del	DEL	G	G	-													cggtctgctcgttcccataaGggggatgctgcggaggatat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:46607838_46607838AG>A	uc002ink.1	-	0	435	c.429_429CT>T	c.(427-429)cctfs	p.P143fs	HOXB1_uc021tzf.1_Frame_Shift_Del_p.P143fs	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	143						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CGTTCCCATAAGGGGGATGCT	0.622													-	46607839	G	-	46607839	7	5	27	1	0	1	0	1	0	0	0	0	7299	1000	35	0	485	0	HOXB1	17	46607839	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	454307	46607839	34587371	7141	31092											
HOXB1	3211	broad.mit.edu	37	chr17	46608232	46608232	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccccggttacagagtgggTactctaagaaggagttcatc	12	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:46608232T>C	uc002ink.1	-	1	41	c.35A>G	c.(34-36)TAC>TGC	p.Y12C		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	12						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						ACAGAGTGGGTACTCTAAGAA	0.607													C	46608232	T	C	46608232	3	2	27	1	0	0	0	0	1	0	0	0	7299	1638	57	3	878	3	HOXB1	17	46608232	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	393	46608232	34586978	7142	31093											
HOXB5	3215	broad.mit.edu	37	chr17	46669628	46669628	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacttttcaatttgttgtcCttcttccacttcatgcgccg	5	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:46669628C>A	uc002inr.2	-	2	812	c.753G>T	c.(751-753)AAG>AAT	p.K251N	HOXB3_uc010wlm.1_5'Flank|HOXB3_uc010dbf.2_5'Flank|HOXB3_uc010dbg.2_5'Flank	NM_002147	NP_002138	P09067	HXB5_HUMAN	homeobox B5	251	Homeobox.					nucleus	sequence-specific DNA binding				0						ATTTGTTGTCCTTCTTCCACT	0.632													A	46669628	C	A	46669628	3	1	27	1	0	0	0	0	1	0	0	0	7304	680	24	5	60	5	HOXB5	17	46669628	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	61396	46669628	34525582	7143	31094											
HOXB8	3218	broad.mit.edu	37	chr17	46691747	46691747	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcaagcttgcagtctgcgTactgcaccaggtctggatcc	12	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:46691747T>C	uc002inw.2	-	1	555	c.320A>G	c.(319-321)TAC>TGC	p.Y107C		NM_024016	NP_076921	P17481	HXB8_HUMAN	homeobox B8	107						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GCAGTCTGCGTACTGCACCAG	0.697													C	46691747	T	C	46691747	3	2	27	1	0	0	0	0	1	0	0	0	7307	1638	57	3	419	3	HOXB8	17	46691747	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	22119	46691747	34503463	7144	31095											
HOXB8	3218	broad.mit.edu	37	chr17	46691765	46691765	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtactgcaccaggtctggaTcctgcgcaccgaataggctc	11	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:46691765T>C	uc002inw.2	-	1	537	c.302A>G	c.(301-303)GAT>GGT	p.D101G		NM_024016	NP_076921	P17481	HXB8_HUMAN	homeobox B8	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CAGGTCTGGATCCTGCGCACC	0.692													C	46691765	T	C	46691765	3	2	27	1	0	0	0	0	1	0	0	0	7307	1435	50	3	437	3	HOXB8	17	46691765	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	18	46691765	34503445	7145	31096											
HOXB13	10481	broad.mit.edu	37	chr17	46804235	46804235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccagatggtaatctggcGctccgagaggctggtggctg	15	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:46804235G>A	uc002ioa.2	-	2	928	c.772C>T	c.(772-774)CGC>TGC	p.R258C	hsa-mir-3185|MI0014227_5'Flank	NM_006361	NP_006352	Q92826	HXB13_HUMAN	homeobox B13	258	Homeobox.				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GTAATCTGGCGCTCCGAGAGG	0.572													A	46804235	G	A	46804235	3	1	27	1	0	0	0	0	1	0	0	0	7300	1087	38	1	86	1	HOXB13	17	46804235	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	112470	46804235	34390975	7146	31097											
TTLL6	284076	broad.mit.edu	37	chr17	46847394	46847394	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtcacagccagggttggCggagactttggggagattga	18	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:46847394C>T	uc010wlo.1	-	15	2141	c.2106G>A	c.(2104-2106)CCG>CCA	p.P702P	TTLL6_uc002iob.2_Silent_p.P395P|TTLL6_uc010dbi.2_Intron|TTLL6_uc002ioc.2_Silent_p.P455P|TTLL6_uc002iod.2_Intron	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	654						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity				0						CCAGGGTTGGCGGAGACTTTG	0.522													T	46847394	C	T	46847394	2	4	27	1	0	0	0	0	0	0	0	1	16728	755	27	1		1	TTLL6	17	46847394	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	43159	46847394	34347816	7147	31098											
GIP	2695	broad.mit.edu	37	chr17	47039154	47039154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagctccagcgcccgagcCtccctctgggtgatgttgtg	13	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:47039154C>T	uc002iol.1	-	4	383	c.285G>A	c.(283-285)GAG>GAA	p.E95E		NM_004123	NP_004114	P09681	GIP_HUMAN	gastric inhibitory polypeptide preproprotein	95					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			skin(1)	1						GCGCCCGAGCCTCCCTCTGGG	0.552													T	47039154	C	T	47039154	2	4	27	1	0	0	0	0	0	0	0	1	6391	680	24	4		4	GIP	17	47039154	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	191760	47039154	34156056	7148	31099											
IGF2BP1	10642	broad.mit.edu	37	chr17	47121413	47121413	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaaggggcagcacatcAaacagctctcccggtttgcc	11	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:47121413A>G	uc002iom.2	+	11	1619	c.1285A>G	c.(1285-1287)AAA>GAA	p.K429E	IGF2BP1_uc010dbj.2_Missense_Mutation_p.K290E	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	429	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						GCAGCACATCAAACAGCTCTC	0.587													G	47121413	A	G	47121413	3	3	27	1	0	0	0	0	1	0	0	0	7573	131	5	3	1327	3	IGF2BP1	17	47121413	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	82259	47121413	34073797	7149	31100											
GNGT2	2793	broad.mit.edu	37	chr17	47284707	47284707	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgaggaggctcaccggaatTcttgtgtttttcacttcttt	10	9	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:47284707T>C	uc002ioo.1	-	3	385	c.78A>G	c.(76-78)AGA>AGG	p.R26R	ABI3_uc002ioq.1_5'Flank|ABI3_uc002iop.1_5'Flank	NM_031498	NP_113686	O14610	GBGT2_HUMAN	guanine nucleotide binding protein-gamma	26					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity				0			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			TCACCGGAATTCTTGTGTTTT	0.567													C	47284707	T	C	47284707	2	2	27	1	0	0	0	0	0	0	0	1	6534	1780	62	3		3	GNGT2	17	47284707	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	163294	47284707	33910503	7150	31101											
NGFR	4804	broad.mit.edu	37	chr17	47583768	47583768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtggaggccgacgacgccGtgtgccgctgcgcctacggc	17	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:47583768G>A	uc002ioz.3	+	3	441	c.316G>A	c.(316-318)GTG>ATG	p.V106M		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	106	Extracellular (Potential).|TNFR-Cys 2.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				ovary(1)|lung(1)	2	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CGACGACGCCGTGTGCCGCTG	0.711													A	47583768	G	A	47583768	3	1	27	1	0	0	0	0	1	0	0	0	10396	1145	40	1	326	1	NGFR	17	47583768	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	299061	47583768	33611442	7151	31102											
DLX3	1747	broad.mit.edu	37	chr17	48072105	48072105	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtaggaggctccgtaggtAtattccgacttgggcgagta	15	8	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:48072105A>G	uc002ipy.2	-	1	484	c.258T>C	c.(256-258)TAT>TAC	p.Y86Y		NM_005220	NP_005211	O60479	DLX3_HUMAN	distal-less homeobox 3	86						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CTCCGTAGGTATATTCCGACT	0.637													G	48072105	A	G	48072105	2	3	27	1	0	0	0	0	0	0	0	1	4572	456	16	3		3	DLX3	17	48072105	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	488337	48072105	33123105	7152	31103											
ITGA3	3675	broad.mit.edu	37	chr17	48154746	48154746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccttctttcctcagcccGgggcctgccaagctaatgag	10	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:48154746G>A	uc010dbl.2	+	16	2538	c.2074G>A	c.(2074-2076)GGG>AGG	p.G692R	ITGA3_uc010dbm.2_Missense_Mutation_p.G692R	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	692	Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						TCCTCAGCCCGGGGCCTGCCA	0.592													A	48154746	G	A	48154746	3	1	27	1	0	0	0	0	1	0	0	0	7877	1116	39	1	2136	1	ITGA3	17	48154746	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	82641	48154746	33040464	7153	31104											
COL1A1	1277	broad.mit.edu	37	chr17	48263363	48263363	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacatcggcagggtcggagcCctggccgccatactcgaact	12	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:48263363C>A	uc002iqm.2	-	50	4150	c.4024G>T	c.(4024-4026)GGC>TGC	p.G1342C		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	1342	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	GGGTCGGAGCCCTGGCCGCCA	0.642			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						A	48263363	C	A	48263363	3	1	27	1	0	0	0	0	1	0	0	0	3677	623	22	5	378	5	COL1A1	17	48263363	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	108617	48263363	32931847	7154	31105											
COL1A1	1277	broad.mit.edu	37	chr17	48270162	48270162	+	Frame_Shift_Del	DEL	G	G	-													catcagggacactcacagcaGggccagggggtccctgagct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:48270161_48270161AG>A	uc002iqm.3	-	26	1998	c.1872_1872CT>T	c.(1870-1872)cctfs	p.P624fs		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	624	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CACTCACAGCAGGGCCAGGGG	0.632			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						-	48270162	G	-	48270162	7	5	27	1	0	1	0	1	0	0	0	0	3677	1000	35	0	2623	0	COL1A1	17	48270162	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	6799	48270162	32925048	7155	31106											
EME1	146956	broad.mit.edu	37	chr17	48458187	48458187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcagacatacaggtgcgcCgtggggaaggtgtgacatcc	15	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:48458187C>T	uc002iqs.1	+	9	1673	c.1600C>T	c.(1600-1602)CGT>TGT	p.R534C	EME1_uc010dbp.1_Missense_Mutation_p.R547C|EME1_uc010dbq.1_RNA|uc010wmk.1_5'Flank	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	essential meiotic endonuclease 1 homolog 1	534					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding				0	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			ACAGGTGCGCCGTGGGGAAGG	0.483								Direct_reversal_of_damage|Homologous_recombination					T	48458187	C	T	48458187	3	4	27	1	0	0	0	0	1	0	0	0	5088	652	23	1	1669	1	EME1	17	48458187	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	188025	48458187	32737023	7156	31107											
ACSF2	80221	broad.mit.edu	37	chr17	48539648	48539648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaatgcccagccaggggCcttgaagagtcagaggtggg	18	8	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:48539648C>T	uc002iqu.2	+	5	715	c.611C>T	c.(610-612)GCC>GTC	p.A204V	ACSF2_uc010wml.1_Missense_Mutation_p.A161V|ACSF2_uc010wmm.1_Missense_Mutation_p.A229V|ACSF2_uc010wmn.1_Missense_Mutation_p.A191V|ACSF2_uc010wmo.1_Missense_Mutation_p.A44V	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2 precursor	204					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CAGCCAGGGGCCTTGAAGAGT	0.562													T	48539648	C	T	48539648	3	4	27	1	0	0	0	0	1	0	0	0	175	739	26	2	629	2	ACSF2	17	48539648	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	81461	48539648	32655562	7157	31108											
CHAD	1101	broad.mit.edu	37	chr17	48542719	48542719	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagctgcggaaggcgtcCgtgtcacggatgtgctggcc	16	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:48542719C>A	uc010dbr.2	-	3	1073	c.1020G>T	c.(1018-1020)ACG>ACT	p.T340T	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Silent_p.T340T|ACSF2_uc010dbt.1_5'Flank	NM_001267	NP_001258	O15335	CHAD_HUMAN	chondroadherin precursor	340	LRRCT.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(2)|central_nervous_system(1)	3	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGAAGGCGTCCGTGTCACGGA	0.602													A	48542719	C	A	48542719	2	1	27	1	0	0	0	0	0	0	0	1	3310	639	23	5		5	CHAD	17	48542719	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3071	48542719	32652491	7158	31109											
CHAD	1101	broad.mit.edu	37	chr17	48545855	48545855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcacgcggatgtcgttatggGacaggtacaagtagataagt	14	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:48545855G>A	uc010dbr.2	-	1	373	c.320C>T	c.(319-321)TCC>TTC	p.S107F	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Missense_Mutation_p.S107F|ACSF2_uc010dbt.1_Intron	NM_001267	NP_001258	O15335	CHAD_HUMAN	chondroadherin precursor	107	LRR 2.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(2)|central_nervous_system(1)	3	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GTCGTTATGGGACAGGTACAA	0.617													A	48545855	G	A	48545855	3	1	27	1	0	0	0	0	1	0	0	0	3310	1174	41	4	771	4	CHAD	17	48545855	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3136	48545855	32649355	7159	31110											
MYCBPAP	84073	broad.mit.edu	37	chr17	48603399	48603399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgctgagctgttaccacGctttaggagccccatctccg	10	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:48603399G>A	uc010wmr.1	+	14	2231	c.2069G>A	c.(2068-2070)CGC>CAC	p.R690H	MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	653					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CTGTTACCACGCTTTAGGAGC	0.627													A	48603399	G	A	48603399	3	1	27	1	0	0	0	0	1	0	0	0	10019	1087	38	1	2123	1	MYCBPAP	17	48603399	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	57544	48603399	32591811	7160	31111											
CACNA1G	8913	broad.mit.edu	37	chr17	48678434	48678434	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgcctcctgtgtcaccggAtcatcacccacaagatgttc	7	16	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:48678434A>G	uc002irk.1	+	19	4186	c.3814A>G	c.(3814-3816)ATC>GTC	p.I1272V	CACNA1G_uc002iri.1_Missense_Mutation_p.I1272V|CACNA1G_uc002irj.1_Missense_Mutation_p.I1249V|CACNA1G_uc002irl.1_Missense_Mutation_p.I1249V|CACNA1G_uc002irm.1_Missense_Mutation_p.I1249V|CACNA1G_uc002irn.1_Missense_Mutation_p.I1249V|CACNA1G_uc002iro.1_Missense_Mutation_p.I1249V|CACNA1G_uc002irp.1_Missense_Mutation_p.I1272V|CACNA1G_uc002irq.1_Missense_Mutation_p.I1249V|CACNA1G_uc002irr.1_Missense_Mutation_p.I1272V|CACNA1G_uc002irs.1_Missense_Mutation_p.I1272V|CACNA1G_uc002irt.1_Missense_Mutation_p.I1272V|CACNA1G_uc002irv.1_Missense_Mutation_p.I1272V|CACNA1G_uc002irw.1_Missense_Mutation_p.I1249V|CACNA1G_uc002iru.1_Missense_Mutation_p.I1249V|CACNA1G_uc002irx.1_Missense_Mutation_p.I1185V|CACNA1G_uc002iry.1_Missense_Mutation_p.I1185V|CACNA1G_uc002irz.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isa.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isb.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isc.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isd.1_Missense_Mutation_p.I1185V|CACNA1G_uc002ise.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isf.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isg.1_Missense_Mutation_p.I1185V|CACNA1G_uc002ish.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isi.1_Missense_Mutation_p.I1162V|CACNA1G_uc002isj.2_5'UTR	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1272	Cytoplasmic (Potential).|III.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGTCACCGGATCATCACCCA	0.627													G	48678434	A	G	48678434	3	3	27	1	0	0	0	0	1	0	0	0	2544	333	12	3	3888	3	CACNA1G	17	48678434	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	75035	48678434	32516776	7161	31112											
CACNA1G	8913	broad.mit.edu	37	chr17	48678461	48678461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacaagatgttcgaccacGtggtccttgtcatcatcttc	7	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:48678461G>A	uc002irk.1	+	19	4213	c.3841G>A	c.(3841-3843)GTG>ATG	p.V1281M	CACNA1G_uc002iri.1_Missense_Mutation_p.V1281M|CACNA1G_uc002irj.1_Missense_Mutation_p.V1258M|CACNA1G_uc002irl.1_Missense_Mutation_p.V1258M|CACNA1G_uc002irm.1_Missense_Mutation_p.V1258M|CACNA1G_uc002irn.1_Missense_Mutation_p.V1258M|CACNA1G_uc002iro.1_Missense_Mutation_p.V1258M|CACNA1G_uc002irp.1_Missense_Mutation_p.V1281M|CACNA1G_uc002irq.1_Missense_Mutation_p.V1258M|CACNA1G_uc002irr.1_Missense_Mutation_p.V1281M|CACNA1G_uc002irs.1_Missense_Mutation_p.V1281M|CACNA1G_uc002irt.1_Missense_Mutation_p.V1281M|CACNA1G_uc002irv.1_Missense_Mutation_p.V1281M|CACNA1G_uc002irw.1_Missense_Mutation_p.V1258M|CACNA1G_uc002iru.1_Missense_Mutation_p.V1258M|CACNA1G_uc002irx.1_Missense_Mutation_p.V1194M|CACNA1G_uc002iry.1_Missense_Mutation_p.V1194M|CACNA1G_uc002irz.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isa.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isb.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isc.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isd.1_Missense_Mutation_p.V1194M|CACNA1G_uc002ise.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isf.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isg.1_Missense_Mutation_p.V1194M|CACNA1G_uc002ish.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isi.1_Missense_Mutation_p.V1171M|CACNA1G_uc002isj.2_Missense_Mutation_p.V5M	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1281	III.|Helical; Name=S1 of repeat III; (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTTCGACCACGTGGTCCTTGT	0.612													A	48678461	G	A	48678461	3	1	27	1	0	0	0	0	1	0	0	0	2544	1145	40	1	3915	1	CACNA1G	17	48678461	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	27	48678461	32516749	7162	31113											
CACNA1G	8913	broad.mit.edu	37	chr17	48680184	48680184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccctctcttgcaggaaCgcatcttcctgaccctctcc	5	20	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:48680184C>T	uc002irk.1	+	20	4291	c.3919C>T	c.(3919-3921)CGC>TGC	p.R1307C	CACNA1G_uc002iri.1_Missense_Mutation_p.R1307C|CACNA1G_uc002irj.1_Missense_Mutation_p.R1284C|CACNA1G_uc002irl.1_Missense_Mutation_p.R1284C|CACNA1G_uc002irm.1_Missense_Mutation_p.R1284C|CACNA1G_uc002irn.1_Missense_Mutation_p.R1284C|CACNA1G_uc002iro.1_Missense_Mutation_p.R1284C|CACNA1G_uc002irp.1_Missense_Mutation_p.R1307C|CACNA1G_uc002irq.1_Missense_Mutation_p.R1284C|CACNA1G_uc002irr.1_Missense_Mutation_p.R1307C|CACNA1G_uc002irs.1_Missense_Mutation_p.R1307C|CACNA1G_uc002irt.1_Missense_Mutation_p.R1307C|CACNA1G_uc002irv.1_Missense_Mutation_p.R1307C|CACNA1G_uc002irw.1_Missense_Mutation_p.R1284C|CACNA1G_uc002iru.1_Missense_Mutation_p.R1284C|CACNA1G_uc002irx.1_Missense_Mutation_p.R1220C|CACNA1G_uc002iry.1_Missense_Mutation_p.R1220C|CACNA1G_uc002irz.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isa.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isb.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isc.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isd.1_Missense_Mutation_p.R1220C|CACNA1G_uc002ise.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isf.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isg.1_Missense_Mutation_p.R1220C|CACNA1G_uc002ish.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isi.1_Missense_Mutation_p.R1197C|CACNA1G_uc002isj.2_Missense_Mutation_p.R31C	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1307	Extracellular (Potential).|III.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTTGCAGGAACGCATCTTCCT	0.557													T	48680184	C	T	48680184	3	4	27	1	0	0	0	0	1	0	0	0	2544	536	19	1	3997	1	CACNA1G	17	48680184	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1723	48680184	32515026	7163	31114											
TOB1	10140	broad.mit.edu	37	chr17	48940379	48940379	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggaattgctggttagaatActgcatgttatttaagctaa	9	5	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:48940379A>G	uc002isw.2	-	1	1035	c.1000T>C	c.(1000-1002)TAT>CAT	p.Y334H	TOB1_uc010wmy.1_Missense_Mutation_p.Y334H|TOB1_uc010wmz.1_Missense_Mutation_p.Y334H	NM_005749	NP_005740	P50616	TOB1_HUMAN	transducer of ERBB2, 1	334					negative regulation of cell proliferation		SH3/SH2 adaptor activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGGTTAGAATACTGCATGTTA	0.378													G	48940379	A	G	48940379	3	3	27	1	0	0	0	0	1	0	0	0	16344	391	14	3	41	3	TOB1	17	48940379	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	260195	48940379	32254831	7164	31115											
SPAG9	9043	broad.mit.edu	37	chr17	49048098	49048098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgatgtagccctctcctcCactgatgacaagcatagact	8	13	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:49048098C>T	uc002itc.2	-	29	4029	c.3820G>A	c.(3820-3822)GGA>AGA	p.G1274R	SPAG9_uc002itb.2_Missense_Mutation_p.G1260R|SPAG9_uc002itd.2_Missense_Mutation_p.G1264R|SPAG9_uc002ita.2_Missense_Mutation_p.G1130R	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	1274					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CCCTCTCCTCCACTGATGACA	0.507													T	49048098	C	T	49048098	3	4	27	1	0	0	0	0	1	0	0	0	14985	603	21	4	153	4	SPAG9	17	49048098	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	107719	49048098	32147112	7165	31116											
SPAG9	9043	broad.mit.edu	37	chr17	49048162	49048162	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtgcagatggccctgcTttgtcacccgtcagatccgt	10	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:49048162T>C	uc002itc.2	-	29	3965	c.3756A>G	c.(3754-3756)AAA>AAG	p.K1252K	SPAG9_uc002itb.2_Silent_p.K1238K|SPAG9_uc002itd.2_Silent_p.K1242K|SPAG9_uc002ita.2_Silent_p.K1108K	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	1252					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			ATGGCCCTGCTTTGTCACCCG	0.483													C	49048162	T	C	49048162	2	2	27	1	0	0	0	0	0	0	0	1	14985	1606	56	3		3	SPAG9	17	49048162	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	64	49048162	32147048	7166	31117											
STXBP4	252983	broad.mit.edu	37	chr17	53108540	53108540	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcttccaggctctaaattaTcttggtattcagcccacaaa	5	11	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:53108540T>A	uc002iuf.1	+	9	885	c.678T>A	c.(676-678)TAT>TAA	p.Y226*	STXBP4_uc010dcc.1_Nonsense_Mutation_p.Y151*|STXBP4_uc010dcd.1_Nonsense_Mutation_p.Y226*	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	226						cytoplasm	calcium ion binding			ovary(1)	1						CTCTAAATTATCTTGGTATTC	0.368													A	53108540	T	A	53108540	4	1	27	1	0	0	0	0	0	1	0	0	15354	1442	50	5	704	5	STXBP4	17	53108540	Nonsense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4060378	53108540	28086670	7167	31118											
HLF	3131	broad.mit.edu	37	chr17	53392616	53392616	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgccagcaaaccgcaatacAccaagtcccattgatcctga	6	14	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:53392616A>G	uc002iug.1	+	3	1005	c.480A>G	c.(478-480)ACA>ACG	p.T160T	HLF_uc010dce.1_Silent_p.T75T|HLF_uc002iuh.2_Silent_p.T75T|HLF_uc010wni.1_Silent_p.T107T	NM_002126	NP_002117	Q16534	HLF_HUMAN	hepatic leukemia factor	160	Pro-rich (proline/acidic region (PAR)).				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						ACCGCAATACACCAAGTCCCA	0.512			T	TCF3	ALL								G	53392616	A	G	53392616	2	3	27	1	0	0	0	0	0	0	0	1	7214	146	6	3		3	HLF	17	53392616	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	284076	53392616	27802594	7168	31119											
MMD	23531	broad.mit.edu	37	chr17	53478860	53478860	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accaccaaggctggagagaaTcccattgtgagatagaaaaa	10	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:53478860T>A	uc002iui.2	-	6	771	c.486A>T	c.(484-486)GGA>GGT	p.G162G		NM_012329	NP_036461	Q15546	PAQRB_HUMAN	monocyte to macrophage	162	Helical; (Potential).				cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity				0						CTGGAGAGAATCCCATTGTGA	0.333													A	53478860	T	A	53478860	2	1	27	1	0	0	0	0	0	0	0	1	9643	1422	50	5		5	MMD	17	53478860	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	86244	53478860	27716350	7169	31120											
ANKFN1	162282	broad.mit.edu	37	chr17	54450156	54450156	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgaaagcttgggagtggAggtatcggctctacagacgc	15	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:54450156A>G	uc002iun.1	+	6	795	c.760A>G	c.(760-762)AGG>GGG	p.R254G		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	254										large_intestine(1)|ovary(1)	2						TTGGGAGTGGAGGTATCGGCT	0.488													G	54450156	A	G	54450156	3	3	27	1	0	0	0	0	1	0	0	0	625	295	11	3	782	3	ANKFN1	17	54450156	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	971296	54450156	26745054	7170	31121											
TRIM25	7706	broad.mit.edu	37	chr17	54981649	54981649	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactcatccctcttggtcagGctctgttcaatctcctcctt	5	15	6	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:54981649G>T	uc002iut.2	-	3	954	c.894C>A	c.(892-894)AGC>AGA	p.S298R	TRIM25_uc010dcj.2_Missense_Mutation_p.S90R	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	298	Interaction with influenza A virus NS1.|Potential.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)					TCTTGGTCAGGCTCTGTTCAA	0.433													T	54981649	G	T	54981649	3	4	27	1	0	0	0	0	1	0	0	0	16496	1194	42	5	1026	5	TRIM25	17	54981649	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	531493	54981649	26213561	7171	31122											
EPX	8288	broad.mit.edu	37	chr17	56276948	56276948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttctgggcaaggcccggGccaggagaaccctggggcac	17	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:56276948G>A	uc002ivq.2	+	9	1416	c.1330G>A	c.(1330-1332)GCC>ACC	p.A444T		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	444					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						CAAGGCCCGGGCCAGGAGAAC	0.597													A	56276948	G	A	56276948	3	1	27	1	0	0	0	0	1	0	0	0	5200	1203	42	2	1364	2	EPX	17	56276948	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1295299	56276948	24918262	7172	31123											
MKS1	54903	broad.mit.edu	37	chr17	56284448	56284448	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaaagacaaaagtcacctTgaaggatcctggtatccgta	8	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:56284448T>C	uc002ivr.1	-	15	1480	c.1405A>G	c.(1405-1407)AAG>GAG	p.K469E	MKS1_uc010wnq.1_Missense_Mutation_p.K266E|MKS1_uc002ivs.1_Intron	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome type 1 protein isoform 1	469					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1						AAAGTCACCTTGAAGGATCCT	0.517													C	56284448	T	C	56284448	3	2	27	1	0	0	0	0	1	0	0	0	9609	1821	63	3	290	3	MKS1	17	56284448	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	7500	56284448	24910762	7173	31124											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	27	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	150713	56435161	24760049	7174	31125											
RNF43	54894	broad.mit.edu	37	chr17	56439908	56439908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccccacactgctcaccggCctgctgtggcgggggcggca	15	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:56439908C>T	uc002iwf.2	-	5	2640	c.684G>A	c.(682-684)AGG>AGA	p.R228R	RNF43_uc010wnv.1_Silent_p.R187R|RNF43_uc002iwh.3_Silent_p.R228R|RNF43_uc002iwg.3_Silent_p.R228R|RNF43_uc010dcw.2_Silent_p.R101R	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	228	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCTCACCGGCCTGCTGTGGC	0.582													T	56439908	C	T	56439908	2	4	27	1	0	0	0	0	0	0	0	1	13495	738	26	2		2	RNF43	17	56439908	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4747	56439908	24755302	7175	31126											
HSF5	124535	broad.mit.edu	37	chr17	56540625	56540625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcagggccaattggaagGcaaaaattcaactggatagg	12	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:56540625G>A	uc002iwi.1	-	4	1184	c.1060C>T	c.(1060-1062)CCT>TCT	p.P354S		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	354						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAATTGGAAGGCAAAAATTCA	0.368													A	56540625	G	A	56540625	3	1	27	1	0	0	0	0	1	0	0	0	7399	1203	42	2	742	2	HSF5	17	56540625	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	100717	56540625	24654585	7176	31127											
HSF5	124535	broad.mit.edu	37	chr17	56565215	56565215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcagggcacctccaggcCggccgccagcttggccttgt	15	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:56565215C>T	uc002iwi.1	-	1	545	c.421G>A	c.(421-423)GGC>AGC	p.G141S		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	141	By similarity.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACCTCCAGGCCGGCCGCCAGC	0.677													T	56565215	C	T	56565215	3	4	27	1	0	0	0	0	1	0	0	0	7399	652	23	1	1393	1	HSF5	17	56565215	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	24590	56565215	24629995	7177	31128											
HSF5	124535	broad.mit.edu	37	chr17	56565535	56565535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagcagcccctcgccgcggCcgtcccagcggatggagcgg	15	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:56565535C>T	uc002iwi.1	-	1	225	c.101G>A	c.(100-102)GGC>GAC	p.G34D		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	34	By similarity.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCGCCGCGGCCGTCCCAGCG	0.517													T	56565535	C	T	56565535	3	4	27	1	0	0	0	0	1	0	0	0	7399	739	26	2	1713	2	HSF5	17	56565535	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	320	56565535	24629675	7178	31129											
MTMR4	9110	broad.mit.edu	37	chr17	56582887	56582887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtactgaaagctgttcCggatggcatggatgttggcc	16	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:56582887C>T	uc002iwj.2	-	11	1159	c.1049G>A	c.(1048-1050)CGG>CAG	p.R350Q		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	350	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAAGCTGTTCCGGATGGCATG	0.507													T	56582887	C	T	56582887	3	4	27	1	0	0	0	0	1	0	0	0	9946	652	23	1	2574	1	MTMR4	17	56582887	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	17352	56582887	24612323	7179	31130											
SEPT4	5414	broad.mit.edu	37	chr17	56598409	56598409	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgctctggatgcactgTgcccggtagttctcataatg	11	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:56598409T>C	uc002iwm.1	-	10	1355	c.1227A>G	c.(1225-1227)GCA>GCG	p.A409A	SEPT4_uc002iwk.1_Silent_p.A262A|SEPT4_uc010wnw.1_Silent_p.A262A|SEPT4_uc002iwl.1_Silent_p.A262A|SEPT4_uc002iwn.1_Silent_p.A310A|SEPT4_uc002iwo.1_Silent_p.A390A|SEPT4_uc002iwp.1_3'UTR|SEPT4_uc010wnx.1_Silent_p.A424A|SEPT4_uc010wny.1_Silent_p.A401A|SEPT4_uc010dcy.1_3'UTR	NM_004574	NP_004565	O43236	SEPT4_HUMAN	septin 4 isoform 1	409					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGATGCACTGTGCCCGGTAGT	0.557											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	56598409	T	C	56598409	2	2	27	1	0	0	0	0	0	0	0	1	14066	1683	59	3		3	SEPT4	17	56598409	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	15522	56598409	24596801	7180	31131											
SEPT4	5414	broad.mit.edu	37	chr17	56604289	56604289	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcctgagaaatccttcacGaacttgctcagttctccatc	5	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:56604289G>A	uc002iwm.1	-	2	239	c.111C>T	c.(109-111)TTC>TTT	p.F37F	SEPT4_uc002iwk.1_5'UTR|SEPT4_uc010wnw.1_5'UTR|SEPT4_uc002iwl.1_5'UTR|SEPT4_uc002iwn.1_Intron|SEPT4_uc002iwo.1_Silent_p.F18F|SEPT4_uc002iwp.1_Silent_p.F18F|SEPT4_uc010wnx.1_Silent_p.F52F|SEPT4_uc010wny.1_Silent_p.F29F|SEPT4_uc010dcy.1_Intron	NM_004574	NP_004565	O43236	SEPT4_HUMAN	septin 4 isoform 1	37					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AATCCTTCACGAACTTGCTCA	0.577													A	56604289	G	A	56604289	2	1	27	1	0	0	0	0	0	0	0	1	14066	1049	37	1		1	SEPT4	17	56604289	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5880	56604289	24590921	7181	31132											
TEX14	56155	broad.mit.edu	37	chr17	56692669	56692669	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgggtggggagattcaGctctttcactgtgaccctgc	15	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:56692669G>T	uc010dcz.1	-	8	941	c.823C>A	c.(823-825)CTG>ATG	p.L275M	TEX14_uc002iwr.1_Missense_Mutation_p.L269M|TEX14_uc002iws.1_Missense_Mutation_p.L269M|TEX14_uc010dda.1_Missense_Mutation_p.L49M	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	275	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGAGATTCAGCTCTTTCACT	0.547													T	56692669	G	T	56692669	3	4	27	1	0	0	0	0	1	0	0	0	15775	962	34	5	3774	5	TEX14	17	56692669	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	88380	56692669	24502541	7182	31133											
TRIM37	4591	broad.mit.edu	37	chr17	57125059	57125059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcacatagtttcttcatcaAtatcattttcttctgtatta	2	9	7	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:57125059A>G	uc002iwy.3	-	16	2096	c.1652T>C	c.(1651-1653)ATT>ACT	p.I551T	TRIM37_uc002iwz.3_Missense_Mutation_p.I551T|TRIM37_uc002ixa.3_Missense_Mutation_p.I429T|TRIM37_uc010woc.1_Missense_Mutation_p.I517T	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	551						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTCTTCATCAATATCATTTTC	0.358									Mulibrey_Nanism				G	57125059	A	G	57125059	3	3	27	1	0	0	0	0	1	0	0	0	16508	101	4	3	1286	3	TRIM37	17	57125059	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	432390	57125059	24070151	7183	31134											
SKA2	348235	broad.mit.edu	37	chr17	57196750	57196750	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcacagtagcacaaatgcggCtcttactctctttctgctca	6	13	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:57196750C>G	uc002ixd.2	-	3	503	c.227G>C	c.(226-228)AGC>ACC	p.S76T	SKA2_uc002ixc.2_RNA|SKA2_uc010dde.1_Intron|SKA2_uc002ixe.2_Intron	NM_182620	NP_872426	Q8WVK7	SKA2_HUMAN	spindle and KT associated 2 isoform 1	76					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding				0						ACAAATGCGGCTCTTACTCTC	0.388													G	57196750	C	G	57196750	3	3	27	1	0	0	0	0	1	0	0	0	14353	797	28	5	146	5	SKA2	17	57196750	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	71691	57196750	23998460	7184	31135											
C17orf71	55181	broad.mit.edu	37	chr17	57288871	57288871	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagtattaaagtcttggaaGgatttttggatattgacaca	10	4	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:57288871G>T	uc002ixi.2	+	1	1501	c.1459G>T	c.(1459-1461)GGA>TGA	p.G487*		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	487					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					AGTCTTGGAAGGATTTTTGGA	0.408													T	57288871	G	T	57288871	4	4	27	1	0	0	0	0	0	1	0	0	1878	1001	35	5	1461	5	C17orf71	17	57288871	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	92121	57288871	23906339	7185	31136											
DHX40	79665	broad.mit.edu	37	chr17	57684404	57684404	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgttttcagatggaatatcGaaagacgtcttaaagaaaat	8	4	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:57684404G>A	uc002ixn.1	+	18	2358	c.2211G>A	c.(2209-2211)TCG>TCA	p.S737S	DHX40_uc010woe.1_Silent_p.S660S|DHX40_uc010wof.1_Silent_p.S252S	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	737							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATGGAATATCGAAAGACGTCT	0.373													A	57684404	G	A	57684404	2	1	27	1	0	0	0	0	0	0	0	1	4512	1045	37	1		1	DHX40	17	57684404	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	395533	57684404	23510806	7186	31137											
CLTC	1213	broad.mit.edu	37	chr17	57762469	57762469	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttgacaatatctcgcttgCtcagcgtttggaaaaacatg	8	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:57762469C>A	uc002ixq.1	+	29	4930	c.4487C>A	c.(4486-4488)GCT>GAT	p.A1496D	CLTC_uc002ixp.2_Missense_Mutation_p.A1496D|CLTC_uc002ixr.1_Missense_Mutation_p.A1500D	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	1496	Heavy chain arm.|Proximal segment.|Involved in binding clathrin light chain (By similarity).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATCTCGCTTGCTCAGCGTTTG	0.393			T	ALK|TFE3	ALCL|renal 								A	57762469	C	A	57762469	3	1	27	1	0	0	0	0	1	0	0	0	3566	797	28	5	4601	5	CLTC	17	57762469	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	78065	57762469	23432741	7187	31138											
TUBD1	51174	broad.mit.edu	37	chr17	57955509	57955509	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgagctttctgcagaataagTaggctggaacacacttccca	9	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:57955509T>A	uc002ixw.1	-	5	1002	c.724A>T	c.(724-726)ACT>TCT	p.T242S	TUBD1_uc010ddf.1_Missense_Mutation_p.T242S|TUBD1_uc010ddg.1_Missense_Mutation_p.T207S|TUBD1_uc010ddh.1_Missense_Mutation_p.T123S|TUBD1_uc010wok.1_Missense_Mutation_p.T242S|TUBD1_uc002ixx.1_Missense_Mutation_p.T242S|TUBD1_uc010wol.1_Missense_Mutation_p.T26S|TUBD1_uc010ddi.1_Intron	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	delta-tubulin	242					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			GCAGAATAAGTAGGCTGGAAC	0.398													A	57955509	T	A	57955509	3	1	27	1	0	0	0	0	1	0	0	0	16759	1638	57	5	657	5	TUBD1	17	57955509	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	193040	57955509	23239701	7188	31139											
HEATR6	63897	broad.mit.edu	37	chr17	58143675	58143676	+	Frame_Shift_Ins	INS	-	-	T													accagtagccataaagaactINStttttttctatcgattttat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:58143674_58143675C>CT	uc002iyk.1	-	8	1328_1329	c.1311_1312G>AG	c.(1309-1314)aaagttfs	p.K437fs	HEATR6_uc010ddk.1_5'UTR|HEATR6_uc010wos.1_Frame_Shift_Ins_p.K269fs	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	437							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CCATAAAGAACTTTTTTTTCTA	0.386													T	58143676	-	T	58143675	7	5	27	1	0	1	1	0	0	0	0	0	7033	1606	56	0	2282	0	HEATR6	17	58143675	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	188166	58143675	23051535	7189	31140											
CA4	762	broad.mit.edu	37	chr17	58233921	58233921	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccttctctccctgctcagTgccagtcaagtggggtggaa	11	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:58233921T>C	uc002iym.3	+	3	207	c.113T>C	c.(112-114)GTG>GCG	p.V38A	CA4_uc010wou.1_RNA	NM_000717	NP_000708	P22748	CAH4_HUMAN	carbonic anhydrase IV precursor	38					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CCCTGCTCAGTGCCAGTCAAG	0.597													C	58233921	T	C	58233921	3	2	27	1	0	0	0	0	1	0	0	0	2518	1710	59	3	123	3	CA4	17	58233921	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	90246	58233921	22961289	7190	31141											
PPM1D	8493	broad.mit.edu	37	chr17	58740868	58740868	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggccagaagaaaattggAaatcctttacttcatcaaca	8	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:58740868A>G	uc002iyt.1	+	6	1995	c.1773A>G	c.(1771-1773)GGA>GGG	p.G591G	PPM1D_uc010ddm.1_RNA	NM_003620	NP_003611	O15297	PPM1D_HUMAN	protein phosphatase 1D	591					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			upper_aerodigestive_tract(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			AGAAAATTGGAAATCCTTTAC	0.433											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	G	58740868	A	G	58740868	2	3	27	1	0	0	0	0	0	0	0	1	12337	233	9	3		3	PPM1D	17	58740868	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	506947	58740868	22454342	7191	31142											
BCAS3	54828	broad.mit.edu	37	chr17	58952026	58952026	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctctctctaattttaggatCcttgtcgtagtcttgcagga	8	9	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:58952026C>T	uc002iyv.3	+	9	697	c.588C>T	c.(586-588)ATC>ATT	p.I196I	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Silent_p.I196I|BCAS3_uc002iyw.3_Silent_p.I192I	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	196						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			ATTTTAGGATCCTTGTCGTAG	0.318													T	58952026	C	T	58952026	2	4	27	1	0	0	0	0	0	0	0	1	1352	845	30	4		4	BCAS3	17	58952026	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	211158	58952026	22243184	7192	31143											
BCAS3	54828	broad.mit.edu	37	chr17	58967097	58967097	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaacatgaatcctattgctCttgggagccgctggcttgct	10	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:58967097C>A	uc002iyv.3	+	10	812	c.703C>A	c.(703-705)CTT>ATT	p.L235I	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Missense_Mutation_p.L235I|BCAS3_uc002iyw.3_Missense_Mutation_p.L231I|BCAS3_uc002iyx.1_Missense_Mutation_p.L50I|BCAS3_uc002iyy.3_Missense_Mutation_p.L6I	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	235						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TCCTATTGCTCTTGGGAGCCG	0.398													A	58967097	C	A	58967097	3	1	27	1	0	0	0	0	1	0	0	0	1352	913	32	5	737	5	BCAS3	17	58967097	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	15071	58967097	22228113	7193	31144											
TBX2	6909	broad.mit.edu	37	chr17	59480452	59480452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccatgcacaagtaccagCcgcgcttccacatagtgcga	8	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:59480452C>T	uc010wox.1	+	3	975	c.694C>T	c.(694-696)CCG>TCG	p.P232S	TBX2_uc002ize.2_Missense_Mutation_p.P222S|TBX2_uc002izg.2_Missense_Mutation_p.P78S	NM_005994	NP_005985	Q13207	TBX2_HUMAN	T-box 2	232	T-box.				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding				0						CAAGTACCAGCCGCGCTTCCA	0.607													T	59480452	C	T	59480452	3	4	27	1	0	0	0	0	1	0	0	0	15652	739	26	2	704	2	TBX2	17	59480452	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	513355	59480452	21714758	7194	31145											
TBX4	9496	broad.mit.edu	37	chr17	59560379	59560379	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccagcaaatgctgagcccCtcctactgcagtgaggtgac	11	13	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:59560379C>T	uc002izi.2	+	8	1185	c.1140C>T	c.(1138-1140)CCC>CCT	p.P380P	TBX4_uc010ddo.2_Silent_p.P381P|TBX4_uc010woy.1_Silent_p.P381P	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	380					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						TGCTGAGCCCCTCCTACTGCA	0.602													T	59560379	C	T	59560379	2	4	27	1	0	0	0	0	0	0	0	1	15657	668	24	4		4	TBX4	17	59560379	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	79927	59560379	21634831	7195	31146											
NACA2	342538	broad.mit.edu	37	chr17	59668358	59668358	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttgctttaccgactggttCttcatcaatttcagctgctg	7	10	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:59668358C>T	uc002izj.2	-	1	210	c.184G>A	c.(184-186)GAA>AAA	p.E62K		NM_199290	NP_954984	Q9H009	NACA2_HUMAN	nascent-polypeptide-associated complex alpha	62					protein transport	cytoplasm|nucleus				ovary(1)	1	all_epithelial(1;3.12e-14)					CCGACTGGTTCTTCATCAATT	0.483													T	59668358	C	T	59668358	3	4	27	1	0	0	0	0	1	0	0	0	10134	922	32	4	467	4	NACA2	17	59668358	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	107979	59668358	21526852	7196	31147											
TLK2	11011	broad.mit.edu	37	chr17	60678155	60678155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaaatgaaataaaacctcCcatcatacactatgacctca	2	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:60678155C>T	uc010ddp.2	+	19	2028	c.1760C>T	c.(1759-1761)CCC>CTC	p.P587L	TLK2_uc002izx.3_Missense_Mutation_p.P413L|TLK2_uc002izz.3_Missense_Mutation_p.P565L|TLK2_uc002jaa.3_Missense_Mutation_p.P533L|TLK2_uc010wpd.1_Missense_Mutation_p.P533L	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	587	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2						ATAAAACCTCCCATCATACAC	0.353													T	60678155	C	T	60678155	3	4	27	1	0	0	0	0	1	0	0	0	15941	623	22	4	1760	4	TLK2	17	60678155	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1009797	60678155	20517055	7197	31148											
MRC2	9902	broad.mit.edu	37	chr17	60757577	60757577	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccggcacgacgacgacgacaTccgaggctgtgcggtgctgg	16	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:60757577T>A	uc002jad.2	+	15	2747	c.2345T>A	c.(2344-2346)ATC>AAC	p.I782N	MRC2_uc010ddq.1_RNA|MRC2_uc002jae.2_5'Flank|MRC2_uc002jaf.2_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	782	Extracellular (Potential).|C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GACGACGACATCCGAGGCTGT	0.647													A	60757577	T	A	60757577	3	1	27	1	0	0	0	0	1	0	0	0	9758	1435	50	5	2403	5	MRC2	17	60757577	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	79422	60757577	20437633	7198	31149											
MARCH10	162333	broad.mit.edu	37	chr17	60802447	60802447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaagtctccctcctcctcGgagtcctcctccaggagact	7	18	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:60802447G>A	uc010ddr.2	-	7	2194	c.1956C>T	c.(1954-1956)TCC>TCT	p.S652S	MARCH10_uc002jag.3_Silent_p.S652S|MARCH10_uc010dds.2_Silent_p.S690S|MARCH10_uc002jah.2_Silent_p.S651S|uc002jaj.1_Intron|uc002jak.2_Intron	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN	ring finger protein 190	652	RING-CH-type.						ligase activity|zinc ion binding				0						CCTCCTCCTCGGAGTCCTCCT	0.557													A	60802447	G	A	60802447	2	1	27	1	0	0	0	0	0	0	0	1	9299	1103	39	1		1	MARCH10	17	60802447	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	44870	60802447	20392763	7199	31150											
TANC2	26115	broad.mit.edu	37	chr17	61473221	61473221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatggccggccagcagcaaGgagtatttaagaagagccat	13	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:61473221G>A	uc002jal.3	+	16	2970	c.2947G>A	c.(2947-2949)GGA>AGA	p.G983R	TANC2_uc010wpe.1_Missense_Mutation_p.G893R|TANC2_uc002jan.1_Missense_Mutation_p.G134R|TANC2_uc002jao.3_Missense_Mutation_p.G84R	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	983							binding			ovary(2)	2						CCAGCAGCAAGGAGTATTTAA	0.493													A	61473221	G	A	61473221	3	1	27	1	0	0	0	0	1	0	0	0	15542	1001	35	4	3009	4	TANC2	17	61473221	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	670774	61473221	19721989	7200	31151											
ACE	1636	broad.mit.edu	37	chr17	61561282	61561282	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaggctatgagggcccActgcaccagtgtgacatcta	13	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:61561282A>G	uc002jau.1	+	11	1681	c.1659A>G	c.(1657-1659)CCA>CCG	p.P553P	ACE_uc010ddu.1_Silent_p.P370P|ACE_uc002jav.1_5'Flank|ACE_uc010ddv.1_5'Flank|ACE_uc010wpj.1_5'Flank|ACE_uc002jaw.1_5'Flank|ACE_uc010wpk.1_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	553	Extracellular (Potential).|Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ATGAGGGCCCACTGCACCAGT	0.617													G	61561282	A	G	61561282	2	3	27	1	0	0	0	0	0	0	0	1	136	146	6	3		3	ACE	17	61561282	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	88061	61561282	19633928	7201	31152											
KCNH6	81033	broad.mit.edu	37	chr17	61611428	61611428	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgctcagcgatcaggAcgaatcacggcgtggggcct	13	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:61611428A>G	uc002jay.2	+	5	937	c.857A>G	c.(856-858)GAC>GGC	p.D286G	KCNH6_uc002jax.1_Missense_Mutation_p.D286G|KCNH6_uc010wpl.1_Missense_Mutation_p.D163G|KCNH6_uc010wpm.1_Missense_Mutation_p.D286G|KCNH6_uc002jaz.1_Missense_Mutation_p.D286G	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	286	Extracellular (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	AGCGATCAGGACGAATCACGG	0.587													G	61611428	A	G	61611428	3	3	27	1	0	0	0	0	1	0	0	0	8036	275	10	3	875	3	KCNH6	17	61611428	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	50146	61611428	19583782	7202	31153											
DCAF7	10238	broad.mit.edu	37	chr17	61628105	61628105	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctggacagtctacgcgatgAactggagtgtgcggcccgat	14	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:61628105A>T	uc002jbc.2	+	1	284	c.67A>T	c.(67-69)AAC>TAC	p.N23Y	DCAF7_uc002jbb.2_RNA|DCAF7_uc010wpn.1_Missense_Mutation_p.N23Y	NM_005828	NP_005819	P61962	DCAF7_HUMAN	WD-repeat protein	23					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			ovary(1)	1						CTACGCGATGAACTGGAGTGT	0.632													T	61628105	A	T	61628105	3	4	27	1	0	0	0	0	1	0	0	0	4275	246	9	5	69	5	DCAF7	17	61628105	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	16677	61628105	19567105	7203	31154											
DDX42	11325	broad.mit.edu	37	chr17	61877936	61877936	+	Frame_Shift_Del	DEL	A	A	-													gaaatccaattgcacctaccAaaaaaatcattgatcctctt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:61877935_61877935CA>C	uc002jbu.3	+	6	836	c.579_579CA>C	c.(577-579)accfs	p.T193fs	DDX42_uc002jbv.3_Frame_Shift_Del_p.T193fs|DDX42_uc002jbw.1_5'UTR	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	193					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTGCACCTACCAAAAAAATCA	0.403													-	61877936	A	-	61877936	7	5	27	1	0	1	0	1	0	0	0	0	4362	131	5	0	598	0	DDX42	17	61877936	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	249831	61877936	19317274	7204	31155											
FTSJ3	117246	broad.mit.edu	37	chr17	61902762	61902762	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacgggccaaaaagtcAcaagccaaacgtagagccat	8	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:61902762A>G	uc002jbz.2	-	6	513	c.435T>C	c.(433-435)TGT>TGC	p.C145C	FTSJ3_uc002jca.2_Silent_p.C145C|PSMC5_uc002jcb.2_5'Flank|PSMC5_uc010ddy.2_5'Flank|PSMC5_uc010ddz.2_5'Flank|PSMC5_uc002jcc.2_5'Flank|PSMC5_uc002jcd.2_5'Flank	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	145					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						CCAAAAAGTCACAAGCCAAAC	0.537													G	61902762	A	G	61902762	2	3	27	1	0	0	0	0	0	0	0	1	6089	157	6	3		3	FTSJ3	17	61902762	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	24826	61902762	19292448	7205	31156											
SMARCD2	6603	broad.mit.edu	37	chr17	61914568	61914568	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttactcgctgaggtagaAccttatctgccatcttcctc	6	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:61914568A>G	uc010deb.1	-	3	748	c.431T>C	c.(430-432)GTT>GCT	p.V144A	SMARCD2_uc010wpt.1_Missense_Mutation_p.V96A|SMARCD2_uc010dea.1_Missense_Mutation_p.V69A|SMARCD2_uc010dec.1_Missense_Mutation_p.V123A	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	SWI/SNF-related matrix-associated	144					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0						CTGAGGTAGAACCTTATCTGC	0.547													G	61914568	A	G	61914568	3	3	27	1	0	0	0	0	1	0	0	0	14778	43	2	3	1208	3	SMARCD2	17	61914568	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	11806	61914568	19280642	7206	31157											
ERN1	2081	broad.mit.edu	37	chr17	62135346	62135346	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagtctggtcaaccaggTtgataaccttgcatgggaga	12	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:62135346T>C	uc002jdz.2	-	12	1327	c.1214A>G	c.(1213-1215)AAC>AGC	p.N405S		NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	405	Lumenal (Potential).				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						GTCAACCAGGTTGATAACCTT	0.532													C	62135346	T	C	62135346	3	2	27	1	0	0	0	0	1	0	0	0	5237	1725	60	3	1763	3	ERN1	17	62135346	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	220778	62135346	19059864	7207	31158											
ERN1	2081	broad.mit.edu	37	chr17	62149457	62149457	+	Frame_Shift_Del	DEL	T	T	-													taacataccagatgtcctgcTttttacctgaaaggacacaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:62149456_62149456CT>C	uc002jdz.2	-	5	476	c.363_363AG>G	c.(361-363)aagfs	p.K121fs		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	121					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						AGATGTCCTGCTTTTTACCTG	0.453													-	62149457	T	-	62149457	7	5	27	1	0	1	0	1	0	0	0	0	5237	1609	56	0	2639	0	ERN1	17	62149457	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	14111	62149457	19045753	7208	31159											
TEX2	55852	broad.mit.edu	37	chr17	62290313	62290313	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatcgaagtcctcagtgTacagttcacaaaactcttca	5	12	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:62290313T>C	uc002jec.2	-	2	1438	c.1265A>G	c.(1264-1266)TAC>TGC	p.Y422C	TEX2_uc002jed.2_Missense_Mutation_p.Y422C|TEX2_uc002jee.2_Missense_Mutation_p.Y422C	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	422					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GTCCTCAGTGTACAGTTCACA	0.453													C	62290313	T	C	62290313	3	2	27	1	0	0	0	0	1	0	0	0	15778	1638	57	3	2183	3	TEX2	17	62290313	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	140856	62290313	18904897	7209	31160											
POLG2	11232	broad.mit.edu	37	chr17	62492909	62492909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttccctctccagacccggGggcttctgggtgctcgccgt	13	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:62492909G>A	uc002jei.2	-	1	261	c.178C>T	c.(178-180)CCC>TCC	p.P60S	POLG2_uc010deg.1_Missense_Mutation_p.P60S	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	DNA polymerase subunit gamma-2, mitochondrial	60					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)	1	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CCAGACCCGGGGGCTTCTGGG	0.607													A	62492909	G	A	62492909	3	1	27	1	0	0	0	0	1	0	0	0	12201	1232	43	4	1311	4	POLG2	17	62492909	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	202596	62492909	18702301	7210	31161											
DDX5	1655	broad.mit.edu	37	chr17	62496396	62496396	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccccttttgcccgcagagTatctgtcccgacggtcatcc	8	17	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:62496396T>C	uc002jek.2	-	13	1737	c.1490A>G	c.(1489-1491)TAC>TGC	p.Y497C	DDX5_uc010deh.2_Missense_Mutation_p.Y497C|DDX5_uc002jej.2_Missense_Mutation_p.Y392C|DDX5_uc010wqa.1_Missense_Mutation_p.Y418C	NM_004396	NP_004387	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5	497					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			ovary(2)|lung(1)	3	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GCCCGCAGAGTATCTGTCCCG	0.423			T	ETV4	prostate								C	62496396	T	C	62496396	3	2	27	1	0	0	0	0	1	0	0	0	4367	1638	57	3	358	3	DDX5	17	62496396	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3487	62496396	18698814	7211	31162											
CCDC45	90799	broad.mit.edu	37	chr17	62523239	62523239	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctcaatagatgttaaaaaGtgctctgggtgatcggatta	10	5	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:62523239G>T	uc002jem.2	+	11	1221	c.1163G>T	c.(1162-1164)AGT>ATT	p.S388I	CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Missense_Mutation_p.S224I	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45	388						centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			ATGTTAAAAAGTGCTCTGGGT	0.378													T	62523239	G	T	62523239	3	4	27	1	0	0	0	0	1	0	0	0	2816	1029	36	5	1205	5	CCDC45	17	62523239	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	26843	62523239	18671971	7212	31163											
LRRC37A3	374819	broad.mit.edu	37	chr17	62856650	62856650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggggctggacttccgagcCttttttcttcggcagtgttc	12	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:62856650C>T	uc002jey.2	-	11	4145	c.3614G>A	c.(3613-3615)AGG>AAG	p.R1205K	LRRC37A3_uc010wqg.1_Missense_Mutation_p.R323K|LRRC37A3_uc002jex.1_Missense_Mutation_p.R182K|LRRC37A3_uc010wqf.1_Missense_Mutation_p.R243K|LRRC37A3_uc010dek.1_Missense_Mutation_p.R211K	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1205	Extracellular (Potential).					integral to membrane					0						ACTTCCGAGCCTTTTTTCTTC	0.562													T	62856650	C	T	62856650	3	4	27	1	0	0	0	0	1	0	0	0	8993	681	24	4	1306	4	LRRC37A3	17	62856650	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	333411	62856650	18338560	7213	31164											
RGS9	8787	broad.mit.edu	37	chr17	63221501	63221501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctggcctcacctgtctttGccaggctctcacccaagtgc	9	16	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:63221501G>A	uc002jfe.2	+	18	1899	c.1789G>A	c.(1789-1791)GCC>ACC	p.A597T	RGS9_uc010dem.2_Missense_Mutation_p.A594T|RGS9_uc002jfd.2_Missense_Mutation_p.A594T|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.A368T	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	597					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4						ACCTGTCTTTGCCAGGCTCTC	0.652													A	63221501	G	A	63221501	3	1	27	1	0	0	0	0	1	0	0	0	13313	1319	46	2	1914	2	RGS9	17	63221501	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	364851	63221501	17973709	7214	31165											
AXIN2	8313	broad.mit.edu	37	chr17	63533080	63533080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcccggggaagctgcaggGccccagctccgccgggggcc	16	18	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:63533080G>A	uc002jfi.2	-	7	2103	c.1814C>T	c.(1813-1815)GCC>GTC	p.A605V	AXIN2_uc002jfh.2_Intron	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	605				Missing (in Ref. 2; AAF22799).	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						AAGCTGCAGGGCCCCAGCTCC	0.672									Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				A	63533080	G	A	63533080	3	1	27	1	0	0	0	0	1	0	0	0	1237	1203	42	2	737	2	AXIN2	17	63533080	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	311579	63533080	17662130	7215	31166											
CACNG1	786	broad.mit.edu	37	chr17	65040890	65040890	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggctgtgctgagcccccaCatggagcaccacaacactac	10	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:65040890C>T	uc002jfu.2	+	1	185	c.114C>T	c.(112-114)CAC>CAT	p.H38H		NM_000727	NP_000718	Q06432	CCG1_HUMAN	voltage-dependent calcium channel gamma-1	38					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	TGAGCCCCCACATGGAGCACC	0.627													T	65040890	C	T	65040890	2	4	27	1	0	0	0	0	0	0	0	1	2556	477	17	4		4	CACNG1	17	65040890	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1507810	65040890	16154320	7216	31167											
KPNA2	3838	broad.mit.edu	37	chr17	66040035	66040035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattgatgcaggagcactcGccgtctttcccagcctgctc	10	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:66040035G>A	uc002jgk.2	+	8	1144	c.1012G>A	c.(1012-1014)GCC>ACC	p.A338T	KPNA2_uc002jgl.2_Missense_Mutation_p.A338T	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	338	ARM 7.|NLS binding site (minor) (By similarity).				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			central_nervous_system(2)	2	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGGAGCACTCGCCGTCTTTCC	0.478													A	66040035	G	A	66040035	3	1	27	1	0	0	0	0	1	0	0	0	8430	1087	38	1	1038	1	KPNA2	17	66040035	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	999145	66040035	15155175	7217	31168											
ARSG	22901	broad.mit.edu	37	chr17	66416413	66416413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaacctggaagacgataccGcagaagctgtgcccctagaa	10	12	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:66416413G>A	uc002jhc.2	+	12	2183	c.1387G>A	c.(1387-1389)GCA>ACA	p.A463T	ARSG_uc002jhb.1_Missense_Mutation_p.A299T|ARSG_uc010dex.1_RNA	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Arylsulfatase G precursor	463					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGACGATACCGCAGAAGCTGT	0.562													A	66416413	G	A	66416413	3	1	27	1	0	0	0	0	1	0	0	0	992	1087	38	1	1429	1	ARSG	17	66416413	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	376378	66416413	14778797	7218	31169											
FAM20A	54757	broad.mit.edu	37	chr17	66551755	66551755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagtttgctgacaacaggGctggaccgggagtagagccc	15	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:66551755G>A	uc002jho.2	-	2	822	c.534C>T	c.(532-534)AGC>AGT	p.S178S	FAM20A_uc010wqp.1_Silent_p.S40S|FAM20A_uc002jhn.2_5'UTR	NM_017565	NP_060035	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	178						extracellular region					0	Breast(10;1.64e-13)					TGACAACAGGGCTGGACCGGG	0.582													A	66551755	G	A	66551755	2	1	27	1	0	0	0	0	0	0	0	1	5537	1194	42	2		2	FAM20A	17	66551755	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	135342	66551755	14643455	7219	31170											
ABCA9	10350	broad.mit.edu	37	chr17	67041327	67041327	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttacctgaatggtctctgTgctctttcatcatggggatt	10	8	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:67041327T>C	uc002jhu.2	-	4	598	c.455A>G	c.(454-456)CAC>CGC	p.H152R	ABCA9_uc010dez.2_Missense_Mutation_p.H152R|ABCA9_uc002jhv.2_Missense_Mutation_p.H152R	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	152					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					ATGGTCTCTGTGCTCTTTCAT	0.388													C	67041327	T	C	67041327	3	2	27	1	0	0	0	0	1	0	0	0	39	1696	59	3	4563	3	ABCA9	17	67041327	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	489572	67041327	14153883	7220	31171											
ABCA9	10350	broad.mit.edu	37	chr17	67047255	67047255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgacccacgctcatgcGtctcttgctcattttgacct	7	14	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:67047255G>A	uc002jhu.2	-	2	156	c.13C>T	c.(13-15)CGC>TGC	p.R5C	ABCA9_uc010dez.2_Missense_Mutation_p.R5C|ABCA9_uc002jhv.2_Missense_Mutation_p.R5C	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	5					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					ACGCTCATGCGTCTCTTGCTC	0.378													A	67047255	G	A	67047255	3	1	27	1	0	0	0	0	1	0	0	0	39	1145	40	1	5013	1	ABCA9	17	67047255	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5928	67047255	14147955	7221	31172											
ABCA6	23460	broad.mit.edu	37	chr17	67125767	67125767	+	Frame_Shift_Del	DEL	A	A	-													ttaccaaagataagccatatAaaaaaaagagtataaatatg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:67125766_67125766TA>T	uc002jhw.1	-	6	1093	c.918_918TA>A	c.(916-918)ttafs	p.L306fs		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	306					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATAAGCCATATAAAAAAAAGA	0.303													-	67125767	A	-	67125767	7	5	27	1	0	1	0	1	0	0	0	0	36	372	13	0	4068	0	ABCA6	17	67125767	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	78512	67125767	14069443	7222	31173											
ABCA5	23461	broad.mit.edu	37	chr17	67246059	67246059	+	Frame_Shift_Del	DEL	A	A	-													tacttaccttcttccagcttAaaaaaagattgtgaaaggga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:67246058_67246058TA>T	uc002jif.2	-	35	5971	c.4753_4753TA>A	c.(4753-4755)aagfs	p.K1585fs	ABCA5_uc002jib.2_Frame_Shift_Del_p.K551fs|ABCA5_uc002jic.2_Frame_Shift_Del_p.K808fs|ABCA5_uc002jid.2_Frame_Shift_Del_p.K502fs|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Frame_Shift_Del_p.K1585fs	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1585					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TCTTCCAGCTTAAAAAAAGAT	0.299													-	67246059	A	-	67246059	7	5	27	1	0	1	0	1	0	0	0	0	35	359	13	0	188	0	ABCA5	17	67246059	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	120292	67246059	13949151	7223	31174											
ABCA5	23461	broad.mit.edu	37	chr17	67250502	67250502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcactcattcctttgacagCtccataaatttcaaaatgtt	4	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:67250502C>T	uc002jif.2	-	31	5416	c.4198G>A	c.(4198-4200)GCT>ACT	p.A1400T	ABCA5_uc002jib.2_Missense_Mutation_p.A366T|ABCA5_uc002jic.2_Missense_Mutation_p.A623T|ABCA5_uc002jid.2_Missense_Mutation_p.A317T|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.A1400T	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	1400	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					CCTTTGACAGCTCCATAAATT	0.363													T	67250502	C	T	67250502	3	4	27	1	0	0	0	0	1	0	0	0	35	797	28	2	762	2	ABCA5	17	67250502	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4443	67250502	13944708	7224	31175											
ABCA5	23461	broad.mit.edu	37	chr17	67261049	67261050	+	Splice_Site	INS	-	-	A													tgagtataagctttgatctaINSaaaaaaatgaaaaacaattt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:67261048_67261049T>TA	uc002jif.2	-	23	4363	c.3145_splice	c.e23-1	p.I1049_splice	ABCA5_uc002jib.2_Splice_Site_p.I15_splice|ABCA5_uc002jic.2_Splice_Site_p.I272_splice|ABCA5_uc002jid.2_Intron|ABCA5_uc002jie.2_Splice_Site|ABCA5_uc002jig.2_Splice_Site_p.I1049_splice	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1049					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					AGCTTTGATCTAAAAAAAATGA	0.262													A	67261050	-	A	67261049	8	5	27	1	0	1	1	0	0	0	1	0	35	377	13	0		0	ABCA5	17	67261049	Splice_Site	INS	-	TCGA-BR-6452-01A-12D-1800-08	10547	67261049	13934161	7225	31176											
ABCA5	23461	broad.mit.edu	37	chr17	67293435	67293435	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgataactcctcataatttcTtttgctctttgaccaatatg	4	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:67293435T>G	uc002jif.2	-	9	2551	c.1333A>C	c.(1333-1335)AGA>CGA	p.R445R	ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Silent_p.R445R|ABCA5_uc002jih.2_Silent_p.R445R|ABCA5_uc010dfe.2_Silent_p.R445R	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	445					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					TCATAATTTCTTTTGCTCTTT	0.318													G	67293435	T	G	67293435	2	3	27	1	0	0	0	0	0	0	0	1	35	1617	56	5		5	ABCA5	17	67293435	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	32386	67293435	13901775	7226	31177											
SSTR2	6752	broad.mit.edu	37	chr17	71166456	71166456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctgcttggtcaaggtgaGcggcacagatgatggggagc	16	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:71166456G>A	uc002jje.2	+	2	1358	c.998G>A	c.(997-999)AGC>AAC	p.S333N		NM_001050	NP_001041	P30874	SSR2_HUMAN	somatostatin receptor 2	333	Cytoplasmic (Potential).				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity				0			LUSC - Lung squamous cell carcinoma(166;0.197)			GTCAAGGTGAGCGGCACAGAT	0.527													A	71166456	G	A	71166456	3	1	27	1	0	0	0	0	1	0	0	0	15197	971	34	2	1000	2	SSTR2	17	71166456	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3873021	71166456	10028754	7227	31178											
COG1	9382	broad.mit.edu	37	chr17	71193082	71193082	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatgttgctcaaatgccaaGgtgtgtctgaccaagctgtg	12	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:71193082G>T	uc002jjg.2	+	3	640	c.604G>T	c.(604-606)GGT>TGT	p.G202C	COG1_uc002jjh.2_Missense_Mutation_p.G202C|COG1_uc002jjf.1_Missense_Mutation_p.G202C	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	202					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)			CAAATGCCAAGGTGTGTCTGA	0.483													T	71193082	G	T	71193082	3	4	27	1	0	0	0	0	1	0	0	0	3657	1000	35	5	614	5	COG1	17	71193082	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	26626	71193082	10002128	7228	31179											
COG1	9382	broad.mit.edu	37	chr17	71199167	71199167	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggattcacccagtcatTacttctagatgatgctggct	8	10	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:71199167T>C	uc002jjg.2	+	8	2138	c.2102T>C	c.(2101-2103)TTA>TCA	p.L701S	COG1_uc002jjh.2_Missense_Mutation_p.L701S|COG1_uc002jjf.1_Missense_Mutation_p.L701S	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	701					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)			ACCCAGTCATTACTTCTAGAT	0.458													C	71199167	T	C	71199167	3	2	27	1	0	0	0	0	1	0	0	0	3657	1764	61	3	2132	3	COG1	17	71199167	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	6085	71199167	9996043	7229	31180											
C17orf80	55028	broad.mit.edu	37	chr17	71239049	71239049	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacaggctggatcaggtgcAacaccaccataaggaagagt	12	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:71239049A>G	uc002jjm.3	+	5	1830	c.1636A>G	c.(1636-1638)AAC>GAC	p.N546D	C17orf80_uc010wqu.1_Missense_Mutation_p.N510D|C17orf80_uc010dfj.2_Missense_Mutation_p.N510D|C17orf80_uc002jjk.1_Missense_Mutation_p.N546D|C17orf80_uc002jjl.3_Missense_Mutation_p.N510D	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	lung cancer-related protein 8 isoform a	546	Extracellular (Potential).					integral to membrane				skin(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)			GATCAGGTGCAACACCACCAT	0.488													G	71239049	A	G	71239049	3	3	27	1	0	0	0	0	1	0	0	0	1885	130	5	3	1646	3	C17orf80	17	71239049	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	39882	71239049	9956161	7230	31181											
CDC42EP4	23580	broad.mit.edu	37	chr17	71282494	71282494	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgctattgaggaaggaggtgTccccaaaggcgtctccggcc	14	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:71282494T>A	uc002jjn.2	-	2	293	c.146A>T	c.(145-147)GAC>GTC	p.D49V	CDC42EP4_uc002jjo.2_Missense_Mutation_p.D49V|CDC42EP4_uc002jjp.1_Missense_Mutation_p.D49V	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Cdc42 effector protein 4	49					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding				0			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GAAGGAGGTGTCCCCAAAGGC	0.647													A	71282494	T	A	71282494	3	1	27	1	0	0	0	0	1	0	0	0	3078	1667	58	5	928	5	CDC42EP4	17	71282494	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	43445	71282494	9912716	7231	31182											
TTYH2	94015	broad.mit.edu	37	chr17	72227099	72227099	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccagctgatgtactccttGgacgatgccaaccacacctt	7	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:72227099G>T	uc002jkc.2	+	3	406	c.375G>T	c.(373-375)TTG>TTT	p.L125F	TTYH2_uc010wqw.1_Missense_Mutation_p.L104F	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	125	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4						TGTACTCCTTGGACGATGCCA	0.572													T	72227099	G	T	72227099	3	4	27	1	0	0	0	0	1	0	0	0	16737	1339	47	5	385	5	TTYH2	17	72227099	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	944605	72227099	8968111	7232	31183											
TTYH2	94015	broad.mit.edu	37	chr17	72249893	72249893	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctcctctcatccccgcaGgaaccaagccatgctctttg	7	17	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:72249893G>A	uc002jkc.2	+	13	1477	c.1446_splice	c.e13-1	p.M482_splice	TTYH2_uc010wqw.1_Splice_Site_p.M461_splice|TTYH2_uc002jkd.2_Splice_Site_p.M161_splice	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1							chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4						CATCCCCGCAGGAACCAAGCC	0.602													A	72249893	G	A	72249893	5	1	27	1	0	0	0	0	0	0	1	0	16737	1014	35	4	1495	4	TTYH2	17	72249893	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	22794	72249893	8945317	7233	31184											
KIF19	124602	broad.mit.edu	37	chr17	72340925	72340925	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgctgatgaaggggaAccggcagaggacccaggagc	17	10	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:72340925A>G	uc002jkm.3	+	7	746	c.608A>G	c.(607-609)AAC>AGC	p.N203S	KIF19_uc002jkj.2_Missense_Mutation_p.N203S|KIF19_uc002jkk.2_Missense_Mutation_p.N161S|KIF19_uc002jkl.2_Missense_Mutation_p.N161S	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	203	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						ATGAAGGGGAACCGGCAGAGG	0.682													G	72340925	A	G	72340925	3	3	27	1	0	0	0	0	1	0	0	0	8282	43	2	3	634	3	KIF19	17	72340925	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	91032	72340925	8854285	7234	31185											
KIF19	124602	broad.mit.edu	37	chr17	72351389	72351389	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttctcgacgggctacccgtGggccccgcctgccccacggc	13	19	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:72351389G>T	uc002jkm.3	+	20	3073	c.2935G>T	c.(2935-2937)GGG>TGG	p.G979W		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	979					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						GGCTACCCGTGGGCCCCGCCT	0.657													T	72351389	G	T	72351389	3	4	27	1	0	0	0	0	1	0	0	0	8282	1348	47	5	3013	5	KIF19	17	72351389	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	10464	72351389	8843821	7235	31186											
GPR142	350383	broad.mit.edu	37	chr17	72368331	72368331	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctatttcatcccttgtggCgtgttcctggtcaccaactc	8	13	3	0	rs146060702		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:72368331C>T	uc010wqy.1	+	4	981	c.981C>T	c.(979-981)GGC>GGT	p.G327G	GPR142_uc010wqx.1_Silent_p.G239G	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	327	Helical; Name=5; (Potential).					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						TCCCTTGTGGCGTGTTCCTGG	0.617													T	72368331	C	T	72368331	2	4	27	1	0	0	0	0	0	0	0	1	6650	755	27	1		1	GPR142	17	72368331	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	16942	72368331	8826879	7236	31187											
CD300LB	124599	broad.mit.edu	37	chr17	72521943	72521943	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggtcctcttctttcaatcCcacaccagtaaacatctgcg	5	15	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:72521943C>A	uc002jkx.2	-	2	438	c.425G>T	c.(424-426)GGG>GTG	p.G142V	CD300LB_uc010wqz.1_Missense_Mutation_p.G142V	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	105	Ig-like V-type.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)	1						TCTTTCAATCCCACACCAGTA	0.517													A	72521943	C	A	72521943	3	1	27	1	0	0	0	0	1	0	0	0	2999	623	22	5	303	5	CD300LB	17	72521943	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	153612	72521943	8673267	7237	31188											
NAT9	26151	broad.mit.edu	37	chr17	72768367	72768367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttcttaccgtaagacagCatcgcgagaacggcctcagt	9	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:72768367C>T	uc002jlq.2	-	5	458	c.384G>A	c.(382-384)ATG>ATA	p.M128I	NAT9_uc002jlr.2_Missense_Mutation_p.M127I	NM_015654	NP_056469	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9	128	N-acetyltransferase.					protein complex	N-acetyltransferase activity				0						CGTAAGACAGCATCGCGAGAA	0.502													T	72768367	C	T	72768367	3	4	27	1	0	0	0	0	1	0	0	0	10182	710	25	2	251	2	NAT9	17	72768367	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	246424	72768367	8426843	7238	31189											
FDXR	2232	broad.mit.edu	37	chr17	72861880	72861880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagtaggatgcgggccacGtccagagccacgttcccctg	13	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:72861880G>A	uc002jly.2	-	6	657	c.570C>T	c.(568-570)GAC>GAT	p.D190D	FDXR_uc010wri.1_Silent_p.D138D|FDXR_uc010wrj.1_Silent_p.D188D|FDXR_uc002jlw.2_Translation_Start_Site|FDXR_uc002jlx.2_Silent_p.D190D|FDXR_uc002jmc.2_Silent_p.D191D|FDXR_uc010wrk.1_Silent_p.D221D|FDXR_uc010wrl.1_Silent_p.D233D|FDXR_uc002jma.2_Silent_p.D191D|FDXR_uc010wrm.1_Silent_p.D150D|FDXR_uc002jlz.2_Silent_p.D182D|FDXR_uc002jmb.2_RNA	NM_024417	NP_077728	P22570	ADRO_HUMAN	ferredoxin reductase isoform 1 precursor	190					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)					TGCGGGCCACGTCCAGAGCCA	0.657													A	72861880	G	A	72861880	2	1	27	1	0	0	0	0	0	0	0	1	5807	1136	40	1		1	FDXR	17	72861880	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	93513	72861880	8333330	7239	31190											
FDXR	2232	broad.mit.edu	37	chr17	72862566	72862566	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagggcctagctgcactcAccagcaccacagcgtggtag	12	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:72862566A>G	uc002jly.2	-	4	480	c.393_splice	c.e4+1	p.L131_splice	FDXR_uc010wri.1_Splice_Site_p.L79_splice|FDXR_uc010wrj.1_Splice_Site_p.L129_splice|FDXR_uc002jlw.2_Splice_Site|FDXR_uc002jlx.2_Splice_Site_p.L131_splice|FDXR_uc002jmc.2_Splice_Site_p.L132_splice|FDXR_uc010wrk.1_Splice_Site_p.L162_splice|FDXR_uc010wrl.1_Splice_Site_p.L174_splice|FDXR_uc002jma.2_Splice_Site_p.L132_splice|FDXR_uc010wrm.1_Intron|FDXR_uc002jlz.2_Splice_Site_p.L123_splice|FDXR_uc002jmb.2_Splice_Site	NM_024417	NP_077728	P22570	ADRO_HUMAN	ferredoxin reductase isoform 1 precursor						cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)					AGCTGCACTCACCAGCACCAC	0.692													G	72862566	A	G	72862566	5	3	27	1	0	0	0	0	0	0	1	0	5807	173	6	3	1134	3	FDXR	17	72862566	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	686	72862566	8332644	7240	31191											
OTOP3	347741	broad.mit.edu	37	chr17	72943337	72943337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcatcctgcagcacatcGctcagaacctcttcatcatc	5	16	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:72943337G>A	uc010wrr.1	+	6	1387	c.1387G>A	c.(1387-1389)GCT>ACT	p.A463T	OTOP3_uc010wrq.1_Missense_Mutation_p.A445T	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	463	Helical; (Potential).					integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)					GCAGCACATCGCTCAGAACCT	0.637													A	72943337	G	A	72943337	3	1	27	1	0	0	0	0	1	0	0	0	11307	1087	38	1	1409	1	OTOP3	17	72943337	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	80771	72943337	8251873	7241	31192											
KCTD2	23510	broad.mit.edu	37	chr17	73058330	73058330	+	Frame_Shift_Del	DEL	A	A	-													catcgtcatagagccgagcgAaaaggcgaaggtaaggagcc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:73058329_73058329GA>G	uc002jmp.3	+	4	818	c.751_751GA>G	c.(751-753)gaafs	p.E251fs	KCTD2_uc010dfz.3_Non-coding_Transcript|KCTD2_uc002jmq.3_Non-coding_Transcript	NM_015353	NP_056168	Q14681	KCTD2_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 2 (KCTD2), mRNA.	251						voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					AGAGCCGAGCGAAAAGGCGAA	0.512													-	73058330	A	-	73058330	7	5	27	1	0	1	0	1	0	0	0	0	8107	246	9	0	770	0	KCTD2	17	73058330	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	114993	73058330	8136880	7242	31193											
SLC16A5	9121	broad.mit.edu	37	chr17	73089824	73089824	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcaccctgggcttcccCacgtgtatcggcatcttctt	9	16	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:73089824C>T	uc002jmr.2	+	3	465	c.93C>T	c.(91-93)CCC>CCT	p.P31P	SLC16A5_uc002jms.1_Silent_p.P31P|SLC16A5_uc002jmt.2_Silent_p.P31P|SLC16A5_uc002jmu.2_Silent_p.P31P|SLC16A5_uc010wrt.1_Silent_p.P71P	NM_004695	NP_004686	O15375	MOT6_HUMAN	solute carrier family 16, member 5	31	Helical; (Potential).				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TGGGCTTCCCCACGTGTATCG	0.627													T	73089824	C	T	73089824	2	4	27	1	0	0	0	0	0	0	0	1	14411	581	21	4		4	SLC16A5	17	73089824	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	31494	73089824	8105386	7243	31194											
GGA3	23163	broad.mit.edu	37	chr17	73240709	73240709	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgctgactgacctttggagaGacgactttgattaactcatt	9	9	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:73240709G>A	uc002jni.1	-	4	300	c.291C>T	c.(289-291)GTC>GTT	p.V97V	GGA3_uc002jnj.1_Intron|GGA3_uc010wrw.1_Intron|GGA3_uc002jnk.1_Silent_p.V25V|GGA3_uc010wrx.1_Intron|GGA3_uc010wry.1_Silent_p.V25V|GGA3_uc010wrz.1_Intron	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	97	VHS.|Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CCTTTGGAGAGACGACTTTGA	0.478													A	73240709	G	A	73240709	2	1	27	1	0	0	0	0	0	0	0	1	6354	929	33	4		4	GGA3	17	73240709	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	150885	73240709	7954501	7244	31195											
GRB2	2885	broad.mit.edu	37	chr17	73316467	73316467	+	Frame_Shift_Del	DEL	G	G	-													tcttagacgttccggttcacGggggtgacataattgcgggg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:73316466_73316466CG>C	uc002jnx.4	-	5	995	c.637_637CG>G	c.(637-639)gtgfs	p.V213fs	GRB2_uc002jny.4_Frame_Shift_Del_p.V172fs	NM_002086	NP_002077	P62993	GRB2_HUMAN	Homo sapiens growth factor receptor-bound protein 2 (GRB2), transcript variant 1, mRNA.	213	SH3 2.				Ras protein signal transduction|T cell costimulation|axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|receptor internalization|signal transduction in response to DNA damage	Golgi apparatus|cytosol	SH3/SH2 adaptor activity|epidermal growth factor receptor binding|insulin receptor substrate binding	p.P212P(2)		breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	TTCCGGTTCACGGGGGTGACA	0.453													-	73316467	G	-	73316467	7	5	27	1	0	1	0	1	0	0	0	0	6758	1103	39	0	21	0	GRB2	17	73316467	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	75758	73316467	7878743	7245	31196											
SAP30BP	29115	broad.mit.edu	37	chr17	73664707	73664707	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagaacagtagacagtcggTaggtaaatctcccagatcca	10	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:73664707T>C	uc002jpe.2	+	2	270	c.216_splice	c.e2+2	p.S72_splice	RECQL5_uc010dgk.2_5'Flank|RECQL5_uc010dgl.2_5'Flank|RECQL5_uc002jpb.1_5'Flank|RECQL5_uc002joz.3_5'Flank|RECQL5_uc002jpa.3_5'Flank|SAP30BP_uc010dgm.1_Splice_Site_p.S72_splice|SAP30BP_uc002jpc.1_Splice_Site|SAP30BP_uc010wsf.1_Splice_Site|SAP30BP_uc010wsg.1_Splice_Site|SAP30BP_uc002jpf.2_Splice_Site_p.S72_splice	NM_013260	NP_037392	Q9UHR5	S30BP_HUMAN	transcriptional regulator protein						apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGACAGTCGGTAGGTAAATCT	0.443													C	73664707	T	C	73664707	5	2	27	1	0	0	0	0	0	0	1	0	13834	1652	57	3	224	3	SAP30BP	17	73664707	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	348240	73664707	7530503	7246	31197											
ITGB4	3691	broad.mit.edu	37	chr17	73746239	73746239	+	Frame_Shift_Del	DEL	C	C	-													agatgttgtcatcacagccaCcccctcacggcgacctgggc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:73746238_73746238AC>A	uc002jpg.3	+	27	3550	c.3363_3363AC>A	c.(3361-3363)ccafs	p.P1121fs	ITGB4_uc002jph.3_Frame_Shift_Del_p.P1121fs|ITGB4_uc002jpi.4_Frame_Shift_Del_p.P1121fs|ITGB4_uc002jpj.3_Frame_Shift_Del_p.P1121fs	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1121					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CATCACAGCCACCCCCTCACG	0.617											OREG0024739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	73746239	C	-	73746239	7	5	27	1	0	1	0	1	0	0	0	0	7897	507	18	0	3470	0	ITGB4	17	73746239	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	81532	73746239	7448971	7247	31198											
UNC13D	201294	broad.mit.edu	37	chr17	73831532	73831532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacccgcgccagggcctcGttgtacgtcttctgcagcca	11	16	2	0	rs143190205		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:73831532G>A	uc002jpp.2	-	20	2186	c.1806C>T	c.(1804-1806)AAC>AAT	p.N602N	UNC13D_uc010wsk.1_Silent_p.N602N|UNC13D_uc002jpq.1_Silent_p.N252N	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	602	MHD1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			upper_aerodigestive_tract(1)|skin(1)	2			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCAGGGCCTCGTTGTACGTCT	0.692									Familial_Hemophagocytic_Lymphohistiocytosis				A	73831532	G	A	73831532	2	1	27	1	0	0	0	0	0	0	0	1	16984	1136	40	1		1	UNC13D	17	73831532	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	85293	73831532	7363678	7248	31199											
CDK3	1018	broad.mit.edu	37	chr17	73998612	73998612	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgacactgtggtatcgCgcccccgagattctcttggg	14	11	1	2	rs61747000	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:73998612C>T	uc010dgt.2	+	6	583	c.507C>T	c.(505-507)CGC>CGT	p.R169R	CDK3_uc002jqg.3_Silent_p.R197R	NM_001258	NP_001249	Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	169	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						TGTGGTATCGCGCCCCCGAGA	0.542													T	73998612	C	T	73998612	2	4	27	1	0	0	0	0	0	0	0	1	3140	755	27	1		1	CDK3	17	73998612	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	167080	73998612	7196598	7249	31200											
EVPL	2125	broad.mit.edu	37	chr17	74003870	74003870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaaactggtgctctgggGggccggggaggcgagcgggg	23	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:74003870G>A	uc002jqi.2	-	22	5644	c.5416C>T	c.(5416-5418)CCC>TCC	p.P1806S	EVPL_uc010wss.1_Missense_Mutation_p.P1828S|EVPL_uc010wst.1_Missense_Mutation_p.P1276S	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1806	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						GTGCTCTGGGGGGCCGGGGAG	0.587													A	74003870	G	A	74003870	3	1	27	1	0	0	0	0	1	0	0	0	5292	1232	43	4	689	4	EVPL	17	74003870	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5258	74003870	7191340	7250	31201											
EVPL	2125	broad.mit.edu	37	chr17	74013872	74013872	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaagggtgtggggcggctcAgcggggcccgcgcccaggcc	19	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:74013872A>T	uc002jqi.2	-	14	1886	c.1658T>A	c.(1657-1659)CTG>CAG	p.L553Q	EVPL_uc010wss.1_Missense_Mutation_p.L575Q|EVPL_uc010wst.1_Missense_Mutation_p.L23Q	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	553	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						GGGGCGGCTCAGCGGGGCCCG	0.692													T	74013872	A	T	74013872	3	4	27	1	0	0	0	0	1	0	0	0	5292	188	7	5	4479	5	EVPL	17	74013872	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	10002	74013872	7181338	7251	31202											
ZACN	353174	broad.mit.edu	37	chr17	74077643	74077643	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctgaggctgaagaacacGgcgctcaagtccatcatcgc	11	13	2	3	rs148665598		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:74077643G>T	uc002jqn.2	+	7	770	c.687G>T	c.(685-687)ACG>ACT	p.T229T	ZACN_uc002jqo.2_RNA|ZACN_uc010dgu.2_Intron|EXOC7_uc002jqp.1_3'UTR|EXOC7_uc010dgv.1_3'UTR|EXOC7_uc002jqs.2_3'UTR|EXOC7_uc002jqq.2_3'UTR|EXOC7_uc010wsw.1_3'UTR|EXOC7_uc010wsx.1_3'UTR|EXOC7_uc002jqr.2_3'UTR|EXOC7_uc010wsv.1_3'UTR	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	229	Extracellular (Potential).|Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity				0						TGAAGAACACGGCGCTCAAGT	0.667													T	74077643	G	T	74077643	2	4	27	1	0	0	0	0	0	0	0	1	17507	1103	39	5		5	ZACN	17	74077643	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	63771	74077643	7117567	7252	31203											
RNF157	114804	broad.mit.edu	37	chr17	74163130	74163130	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggatccacggtgtgggagGgcaggcagaactgctgacac	17	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:74163130G>T	uc002jqz.2	-	5	590	c.521C>A	c.(520-522)CCC>CAC	p.P174H	RNF157_uc002jra.2_Missense_Mutation_p.P174H	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157	174							zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			GGTGTGGGAGGGCAGGCAGAA	0.577													T	74163130	G	T	74163130	3	4	27	1	0	0	0	0	1	0	0	0	13454	1232	43	5	1578	5	RNF157	17	74163130	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	85487	74163130	7032080	7253	31204											
RNF157	114804	broad.mit.edu	37	chr17	74208460	74208461	+	Frame_Shift_Ins	INS	-	-	C													ataccacaactggtctgttcINScccagaaagttcagatcgct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:74208459_74208460T>TC	uc002jqz.3	-	1	261_262	c.192_193A>GA	c.(190-195)gggaacfs	p.G64fs	RNF157_uc002jra.3_Frame_Shift_Ins_p.G64fs	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	Homo sapiens ring finger protein 157 (RNF157), mRNA.	64							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			ACTGGTCTGTTCCCCAGAAAGT	0.416													C	74208461	-	C	74208460	7	5	27	1	0	1	1	0	0	0	0	0	13454	842	30	0	1919	0	RNF157	17	74208460	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	45330	74208460	6986750	7254	31205											
PRPSAP1	5635	broad.mit.edu	37	chr17	74307730	74307730	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatatccacagtctttatctTgggacattgcagcttctgaa	8	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:74307730T>C	uc010wta.1	-	10	1497	c.1051A>G	c.(1051-1053)AAG>GAG	p.K351E	PRPSAP1_uc010wtb.1_Missense_Mutation_p.K248E	NM_002766	NP_002757	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate	322					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			ovary(1)	1						GTCTTTATCTTGGGACATTGC	0.453													C	74307730	T	C	74307730	3	2	27	1	0	0	0	0	1	0	0	0	12581	1821	63	3	110	3	PRPSAP1	17	74307730	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	99270	74307730	6887480	7255	31206											
SPHK1	8877	broad.mit.edu	37	chr17	74383020	74383020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctctgtgctcagcctgGcctggggcttcattgctgat	11	12	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:74383020G>A	uc002jrf.1	+	8	1317	c.508G>A	c.(508-510)GCC>ACC	p.A170T	SPHK1_uc002jrg.1_Missense_Mutation_p.A119T|SPHK1_uc002jrh.2_Missense_Mutation_p.A184T|SPHK1_uc002jrj.2_Missense_Mutation_p.A256T|SPHK1_uc002jri.2_Missense_Mutation_p.A170T|SPHK1_uc002jrk.3_Missense_Mutation_p.A170T|uc010wtd.1_RNA	NM_001142602	NP_001136074	Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1 isoform 3	170					'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			kidney(1)	1						GCTCAGCCTGGCCTGGGGCTT	0.617													A	74383020	G	A	74383020	3	1	27	1	0	0	0	0	1	0	0	0	15045	1203	42	2	830	2	SPHK1	17	74383020	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	75290	74383020	6812190	7256	31207											
UBE2O	63893	broad.mit.edu	37	chr17	74387043	74387043	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctacttgtcctctgtgcacTccggcatgcctgcctctagc	9	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:74387043T>C	uc002jrm.3	-	18	3925	c.3860A>G	c.(3859-3861)GAG>GGG	p.E1287G	UBE2O_uc002jrl.3_Missense_Mutation_p.E891G	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1287							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						CTCTGTGCACTCCGGCATGCC	0.627													C	74387043	T	C	74387043	3	2	27	1	0	0	0	0	1	0	0	0	16865	1551	54	3	22	3	UBE2O	17	74387043	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4023	74387043	6808167	7257	31208											
UBE2O	63893	broad.mit.edu	37	chr17	74392741	74392741	+	Frame_Shift_Del	DEL	G	G	-													ggctgctccaggggtgggatGgggggctcctctatcttggg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:74392740_74392740TG>T	uc002jrm.4	-	13	2343	c.2278_2278CA>A	c.(2278-2280)atcfs	p.I760fs	UBE2O_uc002jrn.4_Frame_Shift_Del_p.I760fs|UBE2O_uc002jrl.4_Frame_Shift_Del_p.I364fs	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	760							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						AGGGGTGGGATGGGGGGCTCC	0.642													-	74392741	G	-	74392741	7	5	27	1	0	1	0	1	0	0	0	0	16865	1335	47	0	1621	0	UBE2O	17	74392741	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	5698	74392741	6802469	7258	31209											
UBE2O	63893	broad.mit.edu	37	chr17	74394418	74394418	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacggaacctaaagtcagggTggtcagcaatgtcgtaaaca	11	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:74394418T>C	uc002jrm.3	-	12	2008	c.1943A>G	c.(1942-1944)CAC>CGC	p.H648R	UBE2O_uc002jrn.3_Missense_Mutation_p.H648R|UBE2O_uc002jrl.3_Missense_Mutation_p.H251R	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	648							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						AAAGTCAGGGTGGTCAGCAAT	0.517											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	74394418	T	C	74394418	3	2	27	1	0	0	0	0	1	0	0	0	16865	1696	59	3	1963	3	UBE2O	17	74394418	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1677	74394418	6800792	7259	31210											
UBE2O	63893	broad.mit.edu	37	chr17	74395720	74395720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagcagcctcatcatctgCgtcctgctctgccgagtgca	9	15	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:74395720C>T	uc002jrm.3	-	9	1503	c.1438G>A	c.(1438-1440)GCA>ACA	p.A480T	UBE2O_uc002jrn.3_Missense_Mutation_p.A480T|UBE2O_uc002jrl.3_Missense_Mutation_p.A83T	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	480							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						TCATCATCTGCGTCCTGCTCT	0.627													T	74395720	C	T	74395720	3	4	27	1	0	0	0	0	1	0	0	0	16865	768	27	1	2480	1	UBE2O	17	74395720	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1302	74395720	6799490	7260	31211											
SEC14L1	6397	broad.mit.edu	37	chr17	75209491	75209491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagccttccccgggtggaCgacgtgcttgcgtccctgca	13	15	0	0	rs143199360		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:75209491C>T	uc002jto.2	+	16	2226	c.1959C>T	c.(1957-1959)GAC>GAT	p.D653D	SEC14L1_uc010dhc.2_Silent_p.D653D|SEC14L1_uc010wth.1_Silent_p.D653D|SEC14L1_uc002jtm.2_Silent_p.D653D|SEC14L1_uc010wti.1_Silent_p.D619D|SEC14L1_uc010wtj.1_Nonsense_Mutation_p.R142*|SEC14L1_uc002jtr.2_Silent_p.D47D	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	653	GOLD.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						CCCGGGTGGACGACGTGCTTG	0.612													T	75209491	C	T	75209491	2	4	27	1	0	0	0	0	0	0	0	1	13981	535	19	1		1	SEC14L1	17	75209491	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	813771	75209491	5985719	7261	31212											
SEC14L1	6397	broad.mit.edu	37	chr17	75210055	75210055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttctcccagctgagtgccGccaccacctcctccagccag	8	20	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:75210055G>A	uc002jto.2	+	17	2365	c.2098G>A	c.(2098-2100)GCC>ACC	p.A700T	SEC14L1_uc010dhc.2_Missense_Mutation_p.A700T|SEC14L1_uc010wth.1_Missense_Mutation_p.A700T|SEC14L1_uc002jtm.2_Missense_Mutation_p.A700T|SEC14L1_uc010wti.1_Missense_Mutation_p.A666T|SEC14L1_uc010wtj.1_3'UTR|SEC14L1_uc002jtr.2_3'UTR	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	700					transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						GCTGAGTGCCGCCACCACCTC	0.667													A	75210055	G	A	75210055	3	1	27	1	0	0	0	0	1	0	0	0	13981	1087	38	1	2156	1	SEC14L1	17	75210055	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	564	75210055	5985155	7262	31213											
SEPT9	10801	broad.mit.edu	37	chr17	75478396	75478396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggccatgaagcagggcttcGagttcaacatcatggtggtc	13	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:75478396G>A	uc002jts.3	+	4	1018	c.892G>A	c.(892-894)GAG>AAG	p.E298K	SEPT9_uc010wtk.1_Missense_Mutation_p.E279K|SEPT9_uc002jtt.3_Missense_Mutation_p.E134K|SEPT9_uc002jtu.3_Missense_Mutation_p.E280K|SEPT9_uc002jtv.2_Missense_Mutation_p.E291K|SEPT9_uc002jtw.2_Missense_Mutation_p.E134K|SEPT9_uc002jtx.1_Missense_Mutation_p.E134K|SEPT9_uc010wtl.1_Missense_Mutation_p.E74K|SEPT9_uc002jty.3_Missense_Mutation_p.E47K|SEPT9_uc010wtm.1_Missense_Mutation_p.E47K|SEPT9_uc010wtn.1_Missense_Mutation_p.E47K|SEPT9_uc010dhd.2_Missense_Mutation_p.E186K	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	septin 9 isoform a	298					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding			breast(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(99;0.153)			GCAGGGCTTCGAGTTCAACAT	0.617													A	75478396	G	A	75478396	3	1	27	1	0	0	0	0	1	0	0	0	14071	1059	37	1	1380	1	SEPT9	17	75478396	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	268341	75478396	5716814	7263	31214											
TNRC6C	57690	broad.mit.edu	37	chr17	76046762	76046762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgggggtttggggggactCgataagctctactgctgtta	15	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:76046762C>T	uc002jud.2	+	4	2219	c.1619C>T	c.(1618-1620)TCG>TTG	p.S540L	TNRC6C_uc002juf.2_Missense_Mutation_p.S540L|TNRC6C_uc002jue.2_Missense_Mutation_p.S540L	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	540	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGGGGGGACTCGATAAGCTCT	0.607													T	76046762	C	T	76046762	3	4	27	1	0	0	0	0	1	0	0	0	16339	893	31	1	1621	1	TNRC6C	17	76046762	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	568366	76046762	5148448	7264	31215											
TMC8	147138	broad.mit.edu	37	chr17	76128901	76128901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtagccgccagtccccgCctggcgttttgaggttccac	12	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:76128901C>T	uc002jup.2	+	5	863	c.481C>T	c.(481-483)CCT>TCT	p.P161S	TMC6_uc002jul.1_5'Flank|TMC8_uc002juq.2_5'UTR|TMC8_uc010wtr.1_5'Flank	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	161	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CCAGTCCCCGCCTGGCGTTTT	0.597									Epidermodysplasia_Verruciformis_Familial_Clustering_of				T	76128901	C	T	76128901	3	4	27	1	0	0	0	0	1	0	0	0	15988	739	26	2	495	2	TMC8	17	76128901	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	82139	76128901	5066309	7265	31216											
CYTH1	9267	broad.mit.edu	37	chr17	76698297	76698297	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaagtgttcttcaggaggTcgttctctattaagaactgg	10	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:76698297T>C	uc002jvw.2	-	5	334	c.263A>G	c.(262-264)GAC>GGC	p.D88G	CYTH1_uc010wtw.1_Missense_Mutation_p.D29G|CYTH1_uc010wtx.1_Missense_Mutation_p.D29G	NM_017456	NP_059430	Q15438	CYH1_HUMAN	cytohesin 1 isoform 2	88	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						CTTCAGGAGGTCGTTCTCTAT	0.473													C	76698297	T	C	76698297	3	2	27	1	0	0	0	0	1	0	0	0	4203	1667	58	3	969	3	CYTH1	17	76698297	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	569396	76698297	4496913	7266	31217											
LGALS3BP	3959	broad.mit.edu	37	chr17	76968044	76968044	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagtctggaaggactggtAggggtagtatctgtagtcag	17	4	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:76968044A>G	uc002jwh.2	-	6	1551	c.1372T>C	c.(1372-1374)TAC>CAC	p.Y458H	LGALS3BP_uc002jwi.2_Missense_Mutation_p.Y264H|LGALS3BP_uc010dhr.2_Missense_Mutation_p.Y264H	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	galectin 3 binding protein	458					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			central_nervous_system(3)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AAGGACTGGTAGGGGTAGTAT	0.542											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	76968044	A	G	76968044	3	3	27	1	0	0	0	0	1	0	0	0	8744	420	15	3	389	3	LGALS3BP	17	76968044	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	269747	76968044	4227166	7267	31218											
CBX8	57332	broad.mit.edu	37	chr17	77770303	77770303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataacctacttacttctgcgAccatcccttccatttcacga	3	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:77770303A>G	uc002jxd.1	-	2	199	c.106T>C	c.(106-108)TCG>CCG	p.S36P		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	chromobox homolog 8	36	Chromo.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TACTTCTGCGACCATCCCTTC	0.438													G	77770303	A	G	77770303	3	3	27	1	0	0	0	0	1	0	0	0	2724	275	10	3	1054	3	CBX8	17	77770303	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	802259	77770303	3424907	7268	31219											
CBX4	8535	broad.mit.edu	37	chr17	77807929	77807929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgccgctgccgccgccacCgccaccgccgccgacgccgg	14	22	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:77807929C>T	uc002jxe.2	-	5	1675	c.1512G>A	c.(1510-1512)GCG>GCA	p.A504A		NM_003655	NP_003646	O00257	CBX4_HUMAN	chromobox homolog 4	504	Interaction with BMI1.|Poly-Ala.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			skin(2)	2			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ccgccgccaccgccaccgccg	0.537													T	77807929	C	T	77807929	2	4	27	1	0	0	0	0	0	0	0	1	2720	639	23	1		1	CBX4	17	77807929	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	37626	77807929	3387281	7269	31220											
CCDC40	55036	broad.mit.edu	37	chr17	78069165	78069165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccaggccgaggggcagcGcaagatggacaggaaggcgc	17	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:78069165G>A	uc010dht.2	+	18	2963	c.2936G>A	c.(2935-2937)CGC>CAC	p.R979H	CCDC40_uc002jxm.3_Missense_Mutation_p.R762H|CCDC40_uc002jxn.3_Missense_Mutation_p.R375H	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	979					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAGGGGCAGCGCAAGATGGAC	0.637													A	78069165	G	A	78069165	3	1	27	1	0	0	0	0	1	0	0	0	2812	1087	38	1	3006	1	CCDC40	17	78069165	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	261236	78069165	3126045	7270	31221											
RNF213	57674	broad.mit.edu	37	chr17	78314040	78314040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccaggcacccctcgaggCcatccaagcctacctggcag	9	20	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:78314040C>T	uc002jyh.1	+	1	315	c.92C>T	c.(91-93)GCC>GTC	p.A31V		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCCCTCGAGGCCATCCAAGCC	0.642													T	78314040	C	T	78314040	3	4	27	1	0	0	0	0	1	0	0	0	13477	739	26	2	6290	2	RNF213	17	78314040	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	244875	78314040	2881170	7271	31222											
RNF213	57674	broad.mit.edu	37	chr17	78318781	78318781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acccatcctggtcagagcttCggaactttgctcggttcctg	10	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:78318781C>T	uc002jyh.1	+	4	1088	c.865C>T	c.(865-867)CGG>TGG	p.R289W		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTCAGAGCTTCGGAACTTTGC	0.502													T	78318781	C	T	78318781	3	4	27	1	0	0	0	0	1	0	0	0	13477	875	31	1	7075	1	RNF213	17	78318781	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4741	78318781	2876429	7272	31223											
RNF213	57674	broad.mit.edu	37	chr17	78321547	78321547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtctggggacccaccgcGtcaaatgtcgggttcacccc	12	15	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:78321547G>A	uc002jyh.1	+	4	3854	c.3631G>A	c.(3631-3633)GTC>ATC	p.V1211I		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACCCACCGCGTCAAATGTCG	0.562													A	78321547	G	A	78321547	3	1	27	1	0	0	0	0	1	0	0	0	13477	1145	40	1	9841	1	RNF213	17	78321547	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2766	78321547	2873663	7273	31224											
RNF213	57674	broad.mit.edu	37	chr17	78321938	78321938	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctacgcccgatgccgtggTccggctgagcgcctactcgc	13	17	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:78321938T>C	uc002jyh.1	+	4	4245	c.4022T>C	c.(4021-4023)GTC>GCC	p.V1341A		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GATGCCGTGGTCCGGCTGAGC	0.612													C	78321938	T	C	78321938	3	2	27	1	0	0	0	0	1	0	0	0	13477	1667	58	3	10232	3	RNF213	17	78321938	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	391	78321938	2873272	7274	31225											
RNF213	57674	broad.mit.edu	37	chr17	78343340	78343340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccgcttccggcagatgtGcaacagtttcttcgtagacc	10	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:78343340G>A	uc002jyh.1	+	20	6636	c.6413G>A	c.(6412-6414)TGC>TAC	p.C2138Y	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.C520Y	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGGCAGATGTGCAACAGTTTC	0.507													A	78343340	G	A	78343340	3	1	27	1	0	0	0	0	1	0	0	0	13477	1319	46	2	12687	2	RNF213	17	78343340	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	21402	78343340	2851870	7275	31226											
RNF213	57674	broad.mit.edu	37	chr17	78360533	78360533	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactgaactgcatgtcatcAgttatgaagtggagcgggac	12	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:78360533A>C	uc002jyh.1	+	38	9206	c.8983A>C	c.(8983-8985)AGT>CGT	p.S2995R	uc002jyi.1_Intron|RNF213_uc010dhx.1_5'UTR	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCATGTCATCAGTTATGAAGT	0.592													C	78360533	A	C	78360533	3	2	27	1	0	0	0	0	1	0	0	0	13477	188	7	5	15329	5	RNF213	17	78360533	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	17193	78360533	2834677	7276	31227											
AZI1	22994	broad.mit.edu	37	chr17	79177336	79177336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagctcttgagcggaggcGccctctccgagggggtgtag	18	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:79177336G>A	uc002jzp.1	-	6	787	c.587C>T	c.(586-588)GCG>GTG	p.A196V	AZI1_uc002jzn.1_Missense_Mutation_p.A196V|AZI1_uc002jzo.1_Missense_Mutation_p.A196V|AZI1_uc010wum.1_Missense_Mutation_p.A196V	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	196					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GAGCGGAGGCGCCCTCTCCGA	0.642													A	79177336	G	A	79177336	3	1	27	1	0	0	0	0	1	0	0	0	1240	1087	38	1	2739	1	AZI1	17	79177336	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	816803	79177336	2017874	7277	31228											
SLC38A10	124565	broad.mit.edu	37	chr17	79226324	79226324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtcgggcagaggcggcGccatctggccctggacccct	15	15	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:79226324G>A	uc002jzz.1	-	13	1991	c.1616C>T	c.(1615-1617)GCG>GTG	p.A539V	SLC38A10_uc002jzy.1_Missense_Mutation_p.A457V|SLC38A10_uc002kab.2_Missense_Mutation_p.A539V	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	539					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CAGAGGCGGCGCCATCTGGCC	0.627													A	79226324	G	A	79226324	3	1	27	1	0	0	0	0	1	0	0	0	14602	1087	38	1	2037	1	SLC38A10	17	79226324	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	48988	79226324	1968886	7278	31229											
SLC38A10	124565	broad.mit.edu	37	chr17	79254484	79254484	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcggacgtagctgacccgcCgcagccactgcccactgaag	12	16	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:79254484C>A	uc002jzz.1	-	6	926	c.551G>T	c.(550-552)CGG>CTG	p.R184L	SLC38A10_uc002jzy.1_Missense_Mutation_p.R102L|SLC38A10_uc002kab.2_Missense_Mutation_p.R184L	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	184					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCTGACCCGCCGCAGCCACTG	0.652													A	79254484	C	A	79254484	3	1	27	1	0	0	0	0	1	0	0	0	14602	652	23	5	3130	5	SLC38A10	17	79254484	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	28160	79254484	1940726	7279	31230											
ARL16	339231	broad.mit.edu	37	chr17	79650094	79650094	+	Frame_Shift_Del	DEL	C	C	-													gaccagatggggcccatgcaCcccccaagctcccggatggt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:79650093_79650093AC>A	uc002kbf.3	-	2	355	c.256_256GT>T	c.(256-258)tgcfs	p.C86fs	ARL16_uc021ufd.1_Frame_Shift_Del_p.G36fs|HGS_uc010wus.2_5'Flank|HGS_uc002kbg.3_5'Flank	NM_001040025	NP_001035114	Q0P5N6	ARL16_HUMAN	Homo sapiens ADP-ribosylation factor-like 16 (ARL16), mRNA.	86							GTP binding			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGGCCCATGCACCCCCCAAGC	0.483													-	79650094	C	-	79650094	7	5	27	1	0	1	0	1	0	0	0	0	932	494	18	0	350	0	ARL16	17	79650094	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	395610	79650094	1545116	7280	31231											
SLC25A10	1468	broad.mit.edu	37	chr17	79687071	79687071	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttttgtgtttctggaacaGctacgcaaaaactttggcat	8	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:79687071G>T	uc002kbi.2	+	11	914	c.828G>T	c.(826-828)CAG>CAT	p.Q276H	SLC25A10_uc010wut.1_Missense_Mutation_p.Q431H|SLC25A10_uc010dif.2_Missense_Mutation_p.Q285H|SLC25A10_uc010wuu.1_Missense_Mutation_p.Q230H	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier;	276	Solcar 3.				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TTCTGGAACAGCTACGCAAAA	0.572													T	79687071	G	T	79687071	3	4	27	1	0	0	0	0	1	0	0	0	14472	962	34	5	870	5	SLC25A10	17	79687071	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	36977	79687071	1508139	7281	31232											
P4HB	5034	broad.mit.edu	37	chr17	79803083	79803083	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttaaaaccatccagcgtGcgttccccgttgtaatcaat	6	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:79803083G>A	uc002kbn.1	-	10	1580	c.1383C>T	c.(1381-1383)CGC>CGT	p.R461R	P4HB_uc002kbl.1_Silent_p.R138R|P4HB_uc002kbm.1_Silent_p.R138R	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	461	Thioredoxin 2.	Lowers pKa of C-terminal Cys of second active site (By similarity).			cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CATCCAGCGTGCGTTCCCCGT	0.597													A	79803083	G	A	79803083	2	1	27	1	0	0	0	0	0	0	0	1	11359	1306	46	2		2	P4HB	17	79803083	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	116012	79803083	1392127	7282	31233											
P4HB	5034	broad.mit.edu	37	chr17	79804462	79804462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaaagaactcgaggatgCgctggttgtcggtgtggtcg	17	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:79804462C>T	uc002kbn.1	-	7	1096	c.899G>A	c.(898-900)CGC>CAC	p.R300H	P4HB_uc002kbl.1_5'UTR|P4HB_uc002kbm.1_5'UTR	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	300					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CTCGAGGATGCGCTGGTTGTC	0.602													T	79804462	C	T	79804462	3	4	27	1	0	0	0	0	1	0	0	0	11359	768	27	1	647	1	P4HB	17	79804462	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1379	79804462	1390748	7283	31234											
ARHGDIA	396	broad.mit.edu	37	chr17	79826767	79826767	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggctcagtccttccagtcCttcttgatggtgagattcca	10	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:79826767C>A	uc002kbp.2	-	5	639	c.600G>T	c.(598-600)AAG>AAT	p.K200N	ARHGDIA_uc002kjk.1_Missense_Mutation_p.K75N|ARHGDIA_uc002kbq.2_Missense_Mutation_p.K200N|ARHGDIA_uc002kbr.2_Missense_Mutation_p.R173M|ARHGDIA_uc002kbs.1_Intron|ARHGDIA_uc002kbt.1_Intron	NM_004309	NP_004300	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	200					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CCTTCCAGTCCTTCTTGATGG	0.642													A	79826767	C	A	79826767	3	1	27	1	0	0	0	0	1	0	0	0	890	680	24	5	18	5	ARHGDIA	17	79826767	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	22305	79826767	1368443	7284	31235											
SIRT7	51547	broad.mit.edu	37	chr17	79873553	79873553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggtagtctgggatagacGctgcctgcatgtcgagaaaa	13	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:79873553G>A	uc002kcj.1	-	4	374	c.341C>T	c.(340-342)GCG>GTG	p.A114V	SIRT7_uc002kck.1_5'UTR|SIRT7_uc002kcl.1_Missense_Mutation_p.A32V	NM_016538	NP_057622	Q9NRC8	SIRT7_HUMAN	sirtuin 7	114	Deacetylase sirtuin-type.|NAD (By similarity).				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TGGGATAGACGCTGCCTGCAT	0.552													A	79873553	G	A	79873553	3	1	27	1	0	0	0	0	1	0	0	0	14343	1087	38	1	889	1	SIRT7	17	79873553	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	46786	79873553	1321657	7285	31236											
RAC3	5881	broad.mit.edu	37	chr17	79990609	79990609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacaactactctgccaacGtgatggtggacgggaaacca	11	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:79990609G>A	uc002kdf.2	+	3	236	c.130G>A	c.(130-132)GTG>ATG	p.V44M		NM_005052	NP_005043	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho	44					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTCTGCCAACGTGATGGTGGA	0.617													A	79990609	G	A	79990609	3	1	27	1	0	0	0	0	1	0	0	0	12976	1145	40	1	140	1	RAC3	17	79990609	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	117056	79990609	1204601	7286	31237											
GPS1	2873	broad.mit.edu	37	chr17	80011878	80011878	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtgcagagaacctttaaCgtggacatgtacgaggagat	12	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:80011878C>T	uc002kdl.1	+	3	306	c.261C>T	c.(259-261)AAC>AAT	p.N87N	RFNG_uc002kdj.2_5'Flank|GPS1_uc002kdk.1_Silent_p.N127N|GPS1_uc010dij.1_Silent_p.N127N|GPS1_uc002kdm.1_Silent_p.N71N|GPS1_uc002kdn.1_Silent_p.N87N|GPS1_uc002kdo.1_Silent_p.N87N|GPS1_uc010wvh.1_Silent_p.N79N	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	87					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GAACCTTTAACGTGGACATGT	0.617													T	80011878	C	T	80011878	2	4	27	1	0	0	0	0	0	0	0	1	6732	535	19	1		1	GPS1	17	80011878	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	21269	80011878	1183332	7287	31238											
GPS1	2873	broad.mit.edu	37	chr17	80014394	80014394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccccatgtcaggaccctgTacacccagattcgcaaccgt	7	18	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:80014394T>C	uc002kdl.1	+	10	1141	c.1096T>C	c.(1096-1098)TAC>CAC	p.Y366H	GPS1_uc002kdk.1_Missense_Mutation_p.Y402H|GPS1_uc010dij.1_Missense_Mutation_p.Y401H|GPS1_uc002kdm.1_Missense_Mutation_p.Y346H|GPS1_uc002kdn.1_Missense_Mutation_p.Y362H|GPS1_uc002kdo.1_Missense_Mutation_p.Y365H|GPS1_uc010wvh.1_Missense_Mutation_p.Y358H	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	366	PCI.				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CAGGACCCTGTACACCCAGAT	0.662													C	80014394	T	C	80014394	3	2	27	1	0	0	0	0	1	0	0	0	6732	1638	57	3	1291	3	GPS1	17	80014394	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2516	80014394	1180816	7288	31239											
CCDC57	284001	broad.mit.edu	37	chr17	80136446	80136446	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaccacctcctgctcctgTagcgcctgctctgtctcctg	8	18	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:80136446T>C	uc002kdz.1	-	11	1765	c.1410A>G	c.(1408-1410)CTA>CTG	p.L470L	CCDC57_uc002kdx.1_Silent_p.L470L|CCDC57_uc010dik.1_5'UTR	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	470	Potential.									ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CCTGCTCCTGTAGCGCCTGCT	0.647													C	80136446	T	C	80136446	2	2	27	1	0	0	0	0	0	0	0	1	2827	1625	57	3		3	CCDC57	17	80136446	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	122052	80136446	1058764	7289	31240											
CCDC57	284001	broad.mit.edu	37	chr17	80159603	80159603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgaaggcggcgtcatagCgctccagctcgaggtcccgc	16	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:80159603C>T	uc002kdz.1	-	3	573	c.218G>A	c.(217-219)CGC>CAC	p.R73H	CCDC57_uc002kdx.1_Missense_Mutation_p.R73H	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	73	Potential.									ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GGCGTCATAGCGCTCCAGCTC	0.652													T	80159603	C	T	80159603	3	4	27	1	0	0	0	0	1	0	0	0	2827	768	27	1	2593	1	CCDC57	17	80159603	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	23157	80159603	1035607	7290	31241											
C17orf62	79415	broad.mit.edu	37	chr17	80402405	80402405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaccatgtagcctttccCgaagtaccggaccttctcct	6	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:80402405C>T	uc002kez.2	-	5	409	c.361G>A	c.(361-363)GGG>AGG	p.G121R	C17orf62_uc002kex.2_5'UTR|C17orf62_uc002key.2_5'UTR|C17orf62_uc002kfa.2_Missense_Mutation_p.G121R|C17orf62_uc010dir.2_Missense_Mutation_p.G121R|C17orf62_uc002kfb.3_Missense_Mutation_p.G121R|C17orf62_uc002kfc.3_Missense_Mutation_p.G107R|C17orf62_uc002kfd.3_5'UTR|C17orf62_uc002kfe.3_5'UTR	NM_001100407	NP_001093877	Q9BQA9	CQ062_HUMAN	hypothetical protein LOC79415 isoform a	121						integral to membrane	protein binding				0	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TAGCCTTTCCCGAAGTACCGG	0.642													T	80402405	C	T	80402405	3	4	27	1	0	0	0	0	1	0	0	0	1870	652	23	1	210	1	C17orf62	17	80402405	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	242802	80402405	792805	7291	31242											
NARF	26502	broad.mit.edu	37	chr17	80441653	80441653	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagatgctgccgtcgacacTctgtaagtggcttctctggg	13	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:80441653T>G	uc002kfg.3	+	8	971	c.831T>G	c.(829-831)ACT>ACG	p.T277T	NARF_uc002kff.3_Silent_p.T218T|NARF_uc010wvp.1_Silent_p.T149T|NARF_uc010dit.2_Silent_p.T323T|NARF_uc002kfj.3_Silent_p.T229T|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Silent_p.T323T|NARF_uc002kfk.2_RNA	NM_012336	NP_036468	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor isoform a	277						lamin filament	lamin binding			skin(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CCGTCGACACTCTGTAAGTGG	0.557													G	80441653	T	G	80441653	2	3	27	1	0	0	0	0	0	0	0	1	10167	1538	54	5		5	NARF	17	80441653	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	39248	80441653	753557	7292	31243											
NARF	26502	broad.mit.edu	37	chr17	80443439	80443439	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgttacgctttgctgcagcCtatggctttcgaaacatcca	9	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:80443439C>A	uc002kfg.3	+	10	1178	c.1038C>A	c.(1036-1038)GCC>GCA	p.A346A	NARF_uc002kff.3_Silent_p.A287A|NARF_uc010dit.2_Silent_p.A392A|NARF_uc002kfj.3_Silent_p.A298A|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Silent_p.A392A|NARF_uc002kfk.2_RNA	NM_012336	NP_036468	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor isoform a	346						lamin filament	lamin binding			skin(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TTGCTGCAGCCTATGGCTTTC	0.483													A	80443439	C	A	80443439	2	1	27	1	0	0	0	0	0	0	0	1	10167	668	24	5		5	NARF	17	80443439	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1786	80443439	751771	7293	31244											
TBCD	6904	broad.mit.edu	37	chr17	80861301	80861301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatccgagagttggctgCgagggcgctgcacaacctgg	16	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr17:80861301C>T	uc002kfz.2	+	19	1881	c.1751C>T	c.(1750-1752)GCG>GTG	p.A584V	TBCD_uc002kfx.1_Missense_Mutation_p.A567V|TBCD_uc002kfy.1_Missense_Mutation_p.A584V|TBCD_uc002kgb.1_5'UTR	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	584	HEAT 2.				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GAGTTGGCTGCGAGGGCGCTG	0.557													T	80861301	C	T	80861301	3	4	27	1	0	0	0	0	1	0	0	0	15630	768	27	1	1825	1	TBCD	17	80861301	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	417862	80861301	333909	7294	31245											
USP14	9097	broad.mit.edu	37	chr18	209989	209989	+	Frame_Shift_Del	DEL	C	C	-													agagtgacaaaaagagtagtCcccagaaagaagttaagtat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:209988_209988TC>T	uc002kkf.1	+	13	1398	c.1182_1182TC>T	c.(1180-1182)agtfs	p.S394fs	USP14_uc002kkg.1_Frame_Shift_Del_p.S359fs|USP14_uc010wyr.1_Frame_Shift_Del_p.S383fs	NM_005151	NP_005142	P54578	UBP14_HUMAN	Homo sapiens ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) (USP14), transcript variant 1, mRNA.	394					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AAAAGAGTAGTCCCCAGAAAG	0.279													-	209989	C	-	209989	7	5	27	1	0	1	0	1	0	0	0	0	17042	855	30	0	1237	0	USP14	18	209989	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08		209989	77867259	7295	31246											
THOC1	9984	broad.mit.edu	37	chr18	214854	214854	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagaatcttccattgttcAcccagcttgttggcaaatac	7	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:214854A>C	uc002kkj.3	-	21	1786	c.1746T>G	c.(1744-1746)GGT>GGG	p.G582G	THOC1_uc002kkk.3_RNA|THOC1_uc002kkh.3_Silent_p.G206G	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	THO complex 1	582	Death.				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			ovary(1)	1		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCCATTGTTCACCCAGCTTGT	0.418													C	214854	A	C	214854	2	2	27	1	0	0	0	0	0	0	0	1	15861	146	6	5		5	THOC1	18	214854	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4865	214854	77862394	7296	31247											
COLEC12	81035	broad.mit.edu	37	chr18	480755	480755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctcctcctctgcgaagtCgtctgtgagagaagaagaga	11	11	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:480755C>T	uc002kkm.2	-	2	225	c.10G>A	c.(10-12)GAC>AAC	p.D4N		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	4	Cytoplasmic (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCTGCGAAGTCGTCTGTGAGA	0.512													T	480755	C	T	480755	3	4	27	1	0	0	0	0	1	0	0	0	3712	884	31	1	2254	1	COLEC12	18	480755	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	265901	480755	77596493	7297	31248											
CETN1	1068	broad.mit.edu	37	chr18	580531	580531	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcatttgacctcttcgaCgtggacggaagtgggaccat	13	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:580531C>T	uc002kko.1	+	1	165	c.123C>T	c.(121-123)GAC>GAT	p.D41D		NM_004066	NP_004057	Q12798	CETN1_HUMAN	centrin 1	41	1 (Probable).|EF-hand 1.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			upper_aerodigestive_tract(1)|ovary(1)	2						ACCTCTTCGACGTGGACGGAA	0.567													T	580531	C	T	580531	2	4	27	1	0	0	0	0	0	0	0	1	3274	535	19	1		1	CETN1	18	580531	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	99776	580531	77496717	7298	31249											
TYMS	7298	broad.mit.edu	37	chr18	659673	659673	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgacaaccaaacgtgtgTtctggaagggtgttttggag	14	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:659673T>C	uc010dka.1	+	2	377	c.238T>C	c.(238-240)TTC>CTC	p.F80L	C18orf56_uc002kkr.2_5'Flank|TYMS_uc010dkb.1_Missense_Mutation_p.F80L|TYMS_uc010dkc.1_Intron	NM_001071	NP_001062	P04818	TYSY_HUMAN	thymidylate synthase	80					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity				0					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	CAAACGTGTGTTCTGGAAGGG	0.373													C	659673	T	C	659673	3	2	27	1	0	0	0	0	1	0	0	0	16809	1725	60	3	244	3	TYMS	18	659673	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	79142	659673	77417575	7299	31250											
EMILIN2	84034	broad.mit.edu	37	chr18	2885039	2885039	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaatggaggtgctgtcctgGctttagagggggagattgcc	18	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:2885039G>T	uc002kln.2	+	3	494	c.335G>T	c.(334-336)GGC>GTC	p.G112V		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	112	EMI.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)		TGCTGTCCTGGCTTTAGAGGG	0.542													T	2885039	G	T	2885039	3	4	27	1	0	0	0	0	1	0	0	0	5094	1203	42	5	345	5	EMILIN2	18	2885039	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2225366	2885039	75192209	7300	31251											
MYOM1	8736	broad.mit.edu	37	chr18	3142042	3142042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacagagaggtctgtcggGgggccaggcacaataccctc	15	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:3142042G>A	uc002klp.2	-	14	2254	c.1920C>T	c.(1918-1920)CCC>CCT	p.P640P	MYOM1_uc002klq.2_Silent_p.P640P	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	640	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						GGTCTGTCGGGGGGCCAGGCA	0.552													A	3142042	G	A	3142042	2	1	27	1	0	0	0	0	0	0	0	1	10091	1219	43	4		4	MYOM1	18	3142042	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	257003	3142042	74935206	7301	31252											
DLGAP1	9229	broad.mit.edu	37	chr18	3879483	3879483	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagcccggggaggtgcTgggccgggccttgggctccg	18	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:3879483T>C	uc002kmf.2	-	1	653	c.586A>G	c.(586-588)AGC>GGC	p.S196G	DLGAP1_uc010wyz.1_Missense_Mutation_p.S196G|DLGAP1_uc002kmk.2_Missense_Mutation_p.S196G|uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	196					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				GGGGAGGTGCTGGGCCGGGCC	0.701													C	3879483	T	C	3879483	3	2	27	1	0	0	0	0	1	0	0	0	4559	1580	55	3	2442	3	DLGAP1	18	3879483	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	737441	3879483	74197765	7302	31253											
ZFP161	7541	broad.mit.edu	37	chr18	5291330	5291330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggagtttctcatgcttccTcaatctgccttcatcagaaa	7	11	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:5291330T>C	uc002kmq.2	-	4	1038	c.877A>G	c.(877-879)AGG>GGG	p.R293G	ZFP161_uc002kmr.2_Missense_Mutation_p.R293G|ZFP161_uc010dkp.2_Missense_Mutation_p.R293G	NM_003409	NP_003400	O43829	ZF161_HUMAN	zinc finger protein 161 homolog	293	C2H2-type 1.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCATGCTTCCTCAATCTGCCT	0.483													C	5291330	T	C	5291330	3	2	27	1	0	0	0	0	1	0	0	0	17637	1550	54	3	476	3	ZFP161	18	5291330	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1411847	5291330	72785918	7303	31254											
EPB41L3	23136	broad.mit.edu	37	chr18	5395110	5395110	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtgatgactattcgctTctcaattcttgtctctgaaa	6	12	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:5395110T>C	uc002kmt.1	-	21	3195	c.3109A>G	c.(3109-3111)AAG>GAG	p.K1037E	EPB41L3_uc010wzh.1_Missense_Mutation_p.K868E|EPB41L3_uc002kmu.1_Missense_Mutation_p.K815E|EPB41L3_uc010dkq.1_Missense_Mutation_p.K706E|EPB41L3_uc002kms.1_Missense_Mutation_p.K272E|EPB41L3_uc010wze.1_Missense_Mutation_p.K342E|EPB41L3_uc010wzf.1_Missense_Mutation_p.K334E|EPB41L3_uc010wzg.1_Missense_Mutation_p.K309E|EPB41L3_uc010dkr.2_Missense_Mutation_p.K429E	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1037	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						ACTATTCGCTTCTCAATTCTT	0.453													C	5395110	T	C	5395110	3	2	27	1	0	0	0	0	1	0	0	0	5154	1792	62	3	162	3	EPB41L3	18	5395110	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	103780	5395110	72682138	7304	31255											
L3MBTL4	91133	broad.mit.edu	37	chr18	5969507	5969507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagggtgggctgacaccGtggacatggacactgactgg	16	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:5969507G>A	uc002kmz.3	-	18	1686	c.1526C>T	c.(1525-1527)ACG>ATG	p.T509M	L3MBTL4_uc010dkt.2_Missense_Mutation_p.T509M|L3MBTL4_uc002kmy.3_Missense_Mutation_p.T338M	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4	509					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)				GGCTGACACCGTGGACATGGA	0.622													A	5969507	G	A	5969507	3	1	27	1	0	0	0	0	1	0	0	0	8594	1145	40	1	357	1	L3MBTL4	18	5969507	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	574397	5969507	72107741	7305	31256											
LAMA1	284217	broad.mit.edu	37	chr18	6943249	6943249	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgtgtggactttcagcGccaactgcgttcccgtcaac	12	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:6943249G>A	uc002knm.2	-	62	9091	c.8997C>T	c.(8995-8997)GGC>GGT	p.G2999G	LAMA1_uc002knk.2_Silent_p.G329G|LAMA1_uc002knl.2_Silent_p.G452G|LAMA1_uc010wzj.1_Silent_p.G2475G	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2999	Laminin G-like 5.				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)	GACTTTCAGCGCCAACTGCGT	0.493													A	6943249	G	A	6943249	2	1	27	1	0	0	0	0	0	0	0	1	8605	1074	38	1		1	LAMA1	18	6943249	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	973742	6943249	71133999	7306	31257											
LAMA1	284217	broad.mit.edu	37	chr18	6949194	6949194	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccatctcccaccacagtcAccatgggagactctcggccg	8	17	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:6949194A>G	uc002knm.2	-	59	8556	c.8462T>C	c.(8461-8463)GTG>GCG	p.V2821A	LAMA1_uc002knk.2_Missense_Mutation_p.V151A|LAMA1_uc002knl.2_Missense_Mutation_p.V274A|LAMA1_uc010wzj.1_Missense_Mutation_p.V2297A	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2821	Laminin G-like 4.				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)	CACCACAGTCACCATGGGAGA	0.478													G	6949194	A	G	6949194	3	3	27	1	0	0	0	0	1	0	0	0	8605	159	6	3	785	3	LAMA1	18	6949194	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	5945	6949194	71128054	7307	31258											
LAMA1	284217	broad.mit.edu	37	chr18	7049169	7049169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaatgcgttgcaagcgaaGgcgaatatatcgtgcagaag	12	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:7049169G>A	uc002knm.2	-	5	770	c.676C>T	c.(676-678)CTT>TTT	p.L226F	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	226	Laminin N-terminal.				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)	TGCAAGCGAAGGCGAATATAT	0.463													A	7049169	G	A	7049169	3	1	27	1	0	0	0	0	1	0	0	0	8605	1000	35	4	8787	4	LAMA1	18	7049169	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	99975	7049169	71028079	7308	31259											
PTPRM	5797	broad.mit.edu	37	chr18	8069784	8069784	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataatgtaactcgttgccaCagttataatctcactgtcca	5	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:8069784C>T	uc002knn.3	+	8	1736	c.1233C>T	c.(1231-1233)CAC>CAT	p.H411H	PTPRM_uc010dkv.2_Silent_p.H411H|PTPRM_uc010wzl.1_Silent_p.H198H	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	411	Fibronectin type-III 2.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				CTCGTTGCCACAGTTATAATC	0.453													T	8069784	C	T	8069784	2	4	27	1	0	0	0	0	0	0	0	1	12806	477	17	4		4	PTPRM	18	8069784	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1020615	8069784	70007464	7309	31260											
PTPRM	5797	broad.mit.edu	37	chr18	8370924	8370924	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actggccagatgacacagagAtatataaagacattaaagtt	8	6	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:8370924A>T	uc002knn.3	+	22	3555	c.3052A>T	c.(3052-3054)ATA>TTA	p.I1018L	PTPRM_uc010dkv.2_Missense_Mutation_p.I1031L|PTPRM_uc010wzl.1_Missense_Mutation_p.I805L	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1018	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				TGACACAGAGATATATAAAGA	0.333													T	8370924	A	T	8370924	3	4	27	1	0	0	0	0	1	0	0	0	12806	333	12	5	3185	5	PTPRM	18	8370924	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	301140	8370924	69706324	7310	31261											
PTPRM	5797	broad.mit.edu	37	chr18	8376167	8376167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcaagtccaagagcccgCccagtgcaggcccactggtg	12	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:8376167C>T	uc002knn.3	+	23	3759	c.3256C>T	c.(3256-3258)CCC>TCC	p.P1086S	PTPRM_uc010dkv.2_Missense_Mutation_p.P1099S|PTPRM_uc010wzl.1_Missense_Mutation_p.P873S	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1086	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				CAAGAGCCCGCCCAGTGCAGG	0.527													T	8376167	C	T	8376167	3	4	27	1	0	0	0	0	1	0	0	0	12806	739	26	2	3393	2	PTPRM	18	8376167	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5243	8376167	69701081	7311	31262											
ANKRD12	23253	broad.mit.edu	37	chr18	9211676	9211676	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gataaagttaataaaagaaaTgaacgtggtgaaactccttt	8	4	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:9211676T>C	uc002knv.2	+	6	803	c.546T>C	c.(544-546)AAT>AAC	p.N182N	ANKRD12_uc010wzn.1_Silent_p.N182N|ANKRD12_uc002knw.2_Silent_p.N159N|ANKRD12_uc002knx.2_Silent_p.N159N	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	182						nucleus				ovary(2)|central_nervous_system(1)	3						ATAAAAGAAATGAACGTGGTG	0.368													C	9211676	T	C	9211676	2	2	27	1	0	0	0	0	0	0	0	1	640	1461	51	3		3	ANKRD12	18	9211676	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	835509	9211676	68865572	7312	31263											
RALBP1	10928	broad.mit.edu	37	chr18	9522203	9522203	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagcagcctatgaccgggAggagtctacaaacttggaag	12	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:9522203A>G	uc002kob.2	+	4	972	c.749A>G	c.(748-750)GAG>GGG	p.E250G	RALBP1_uc002koc.2_Missense_Mutation_p.E250G	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	250	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			central_nervous_system(1)	1						TATGACCGGGAGGAGTCTACA	0.398													G	9522203	A	G	9522203	3	3	27	1	0	0	0	0	1	0	0	0	13012	304	11	3	759	3	RALBP1	18	9522203	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	310527	9522203	68555045	7313	31264											
RALBP1	10928	broad.mit.edu	37	chr18	9535901	9535901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaggagccggcaaagccatCgcccagcagggataggaagg	15	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:9535901C>T	uc002kob.2	+	10	2157	c.1934C>T	c.(1933-1935)TCG>TTG	p.S645L	RALBP1_uc002koc.2_Missense_Mutation_p.S645L	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	645					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			central_nervous_system(1)	1						GCAAAGCCATCGCCCAGCAGG	0.632													T	9535901	C	T	9535901	3	4	27	1	0	0	0	0	1	0	0	0	13012	893	31	1	1968	1	RALBP1	18	9535901	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	13698	9535901	68541347	7314	31265											
FAM38B	63895	broad.mit.edu	37	chr18	10671647	10671647	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcgaactaaaaaaatatcTgtgcacaacttcaaaattcg	4	9	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:10671647T>G	uc002kor.3	-	14	2147	c.2007A>C	c.(2005-2007)ACA>ACC	p.T669T	FAM38B_uc002koq.2_Silent_p.T504T	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2712						integral to membrane	ion channel activity			ovary(1)	1						AAAAAATATCTGTGCACAACT	0.378													G	10671647	T	G	10671647	2	3	27	1	0	0	0	0	0	0	0	1	5555	1567	55	5		5	FAM38B	18	10671647	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1135746	10671647	67405601	7315	31266											
FAM38B	63895	broad.mit.edu	37	chr18	10696277	10696277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggtgatgtctgcagctgCtgagtgtttctggggaagag	17	5	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:10696277C>T	uc002kor.3	-	5	657	c.517G>A	c.(517-519)GCA>ACA	p.A173T	FAM38B_uc002koq.2_Missense_Mutation_p.A71T	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2216						integral to membrane	ion channel activity			ovary(1)	1						TCTGCAGCTGCTGAGTGTTTC	0.562													T	10696277	C	T	10696277	3	4	27	1	0	0	0	0	1	0	0	0	5555	797	28	2	1652	2	FAM38B	18	10696277	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	24630	10696277	67380971	7316	31267											
AFG3L2	10939	broad.mit.edu	37	chr18	12367305	12367305	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggaccaccagtgagaatcAtctttcttgccacctcgttt	7	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:12367305A>G	uc002kqz.1	-	4	482	c.369T>C	c.(367-369)GAT>GAC	p.D123D		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	AFG3 ATPase family gene 3-like 2	123					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0					Adenosine triphosphate(DB00171)	AGTGAGAATCATCTTTCTTGC	0.478													G	12367305	A	G	12367305	2	3	27	1	0	0	0	0	0	0	0	1	360	214	8	3		3	AFG3L2	18	12367305	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1671028	12367305	65709943	7317	31268											
CEP76	79959	broad.mit.edu	37	chr18	12678171	12678171	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattacttgttactgacgcGtcaattgtggatgcacacag	9	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:12678171G>A	uc002kri.2	-	10	1716	c.1560C>T	c.(1558-1560)GAC>GAT	p.D520D	PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_Silent_p.D342D|CEP76_uc010wzz.1_Silent_p.D445D	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	520					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding				0						TTACTGACGCGTCAATTGTGG	0.438													A	12678171	G	A	12678171	2	1	27	1	0	0	0	0	0	0	0	1	3261	1136	40	1		1	CEP76	18	12678171	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	310866	12678171	65399077	7318	31269											
CEP76	79959	broad.mit.edu	37	chr18	12699092	12699092	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ataatgtaaacataaagtaaAcgttgaacaaacttgtccag	6	6	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:12699092A>T	uc002kri.2	-	4	562	c.406T>A	c.(406-408)TTT>ATT	p.F136I	PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_5'UTR|CEP76_uc010wzz.1_Intron|CEP76_uc010xaa.1_5'UTR|CEP76_uc010xab.1_3'UTR	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	136					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding				0						CATAAAGTAAACGTTGAACAA	0.398													T	12699092	A	T	12699092	3	4	27	1	0	0	0	0	1	0	0	0	3261	43	2	5	1609	5	CEP76	18	12699092	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	20921	12699092	65378156	7319	31270											
PSMG2	56984	broad.mit.edu	37	chr18	12724555	12724555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtttcagaaggggacaaCatcccagatgcattaggtct	10	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:12724555C>T	uc002krk.2	+	6	682	c.639C>T	c.(637-639)AAC>AAT	p.N213N	PSMG2_uc002krg.2_Silent_p.N182N|PSMG2_uc002krj.1_Silent_p.N213N	NM_020232	NP_064617	Q969U7	PSMG2_HUMAN	proteasome (prosome, macropain) assembly	213					proteasome assembly	nucleus	protein binding				0						AAGGGGACAACATCCCAGATG	0.358													T	12724555	C	T	12724555	2	4	27	1	0	0	0	0	0	0	0	1	12712	477	17	4		4	PSMG2	18	12724555	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	25463	12724555	65352693	7320	31271											
CEP192	55125	broad.mit.edu	37	chr18	13087145	13087145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaaattgttttttctgtcCgcaacactggctcccgagca	8	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:13087145C>T	uc010xac.1	+	31	5826	c.5746C>T	c.(5746-5748)CGC>TGC	p.R1916C	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.R1441C|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.R338C|CEP192_uc002krw.2_Missense_Mutation_p.R65C|CEP192_uc002krx.2_5'UTR|CEP192_uc002kry.2_5'Flank	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1916										ovary(4)|pancreas(1)	5						TTTTTCTGTCCGCAACACTGG	0.368													T	13087145	C	T	13087145	3	4	27	1	0	0	0	0	1	0	0	0	3251	652	23	1	5864	1	CEP192	18	13087145	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	362590	13087145	64990103	7321	31272											
CEP192	55125	broad.mit.edu	37	chr18	13089513	13089514	+	Frame_Shift_Del	DEL	CA	CA	-													ttccagaacatagtgtgcttCaaaacattaattttgttgaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:13089512_13089513TCA>T	uc010xac.2	+	32	6131_6132	c.6051_6052TCA>T	c.(6049-6054)cttcaafs	p.L2017fs	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Frame_Shift_Del_p.L1542fs|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_Frame_Shift_Del_p.L439fs|CEP192_uc002krx.3_Frame_Shift_Del_p.L21fs|CEP192_uc002kry.3_Non-coding_Transcript	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	1612										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATAGTGTGCTTCAAAACATTAA	0.332													-	13089514	CA	-	13089513	7	5	27	1	0	1	0	1	0	0	0	0	3251	827	29	0	6178	0	CEP192	18	13089513	Frame_Shift_Del	DEL	CA	TCGA-BR-6452-01A-12D-1800-08	2368	13089513	64987735	7322	31273											
CEP192	55125	broad.mit.edu	37	chr18	13099478	13099478	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaattttttttaaaggagTaaactacaaattcttgtgag	6	3	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:13099478T>C	uc010xac.1	+	37	6641	c.6561T>C	c.(6559-6561)AGT>AGC	p.S2187S	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.S1712S|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Silent_p.S609S|CEP192_uc002krw.2_Silent_p.S336S|CEP192_uc002krx.2_Silent_p.S191S|CEP192_uc002kry.2_RNA	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	2187										ovary(4)|pancreas(1)	5						tttaaaGGAGTAAACTACAAA	0.348													C	13099478	T	C	13099478	2	2	27	1	0	0	0	0	0	0	0	1	3251	1635	57	3		3	CEP192	18	13099478	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9965	13099478	64977770	7323	31274											
C18orf1	753	broad.mit.edu	37	chr18	13438344	13438344	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acagtgacgaagagaactgtCtcctggtgaccgagcacccg	12	12	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:13438344C>G	uc002ksa.2	+	4	810	c.142C>G	c.(142-144)CTC>GTC	p.L48V	C18orf1_uc002ksb.2_Missense_Mutation_p.L48V	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	48	Extracellular (Potential).|LDL-receptor class A.					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)		AGAGAACTGTCTCCTGGTGAC	0.532													G	13438344	C	G	13438344	3	3	27	1	0	0	0	0	1	0	0	0	1894	913	32	5	148	5	C18orf1	18	13438344	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	338866	13438344	64638904	7324	31275											
C18orf1	753	broad.mit.edu	37	chr18	13645246	13645246	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgagattgatcttcctcccAccatctccctgtccgacggt	7	16	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:13645246A>G	uc002ksa.2	+	7	1179	c.511A>G	c.(511-513)ACC>GCC	p.T171A	C18orf1_uc002ksb.2_Missense_Mutation_p.T153A|C18orf1_uc002kse.2_Missense_Mutation_p.T134A|C18orf1_uc002ksf.2_Missense_Mutation_p.T116A|C18orf1_uc002ksg.1_Missense_Mutation_p.T94A|C18orf1_uc002ksh.1_Missense_Mutation_p.T113A|C18orf1_uc002ksi.1_Missense_Mutation_p.T95A	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	171	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)		TCTTCCTCCCACCATCTCCCT	0.612													G	13645246	A	G	13645246	3	3	27	1	0	0	0	0	1	0	0	0	1894	159	6	3	610	3	C18orf1	18	13645246	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	206902	13645246	64432002	7325	31276											
C18orf19	125228	broad.mit.edu	37	chr18	13681828	13681828	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acatgttgcttcccttgcttAtggcgaaggactcctggttg	11	10	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:13681828A>T	uc010dlh.2	-	3	681	c.249T>A	c.(247-249)CAT>CAA	p.H83Q	C18orf19_uc010dlg.2_Missense_Mutation_p.H83Q|C18orf19_uc010dli.2_Missense_Mutation_p.H83Q|C18orf19_uc002ksj.3_Missense_Mutation_p.H83Q|C18orf19_uc010dlj.2_Intron	NM_001098801	NP_001092271	Q96ND0	CR019_HUMAN	hypothetical protein LOC125228	83						integral to membrane				breast(2)	2						TCCCTTGCTTATGGCGAAGGA	0.493													T	13681828	A	T	13681828	3	4	27	1	0	0	0	0	1	0	0	0	1896	446	16	5	581	5	C18orf19	18	13681828	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	36582	13681828	64395420	7326	31277											
RNMT	8731	broad.mit.edu	37	chr18	13734595	13734595	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attggatgaaaagtgttctcAttggtatgatccaacaccaa	8	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:13734595A>G	uc002ksk.1	+	3	617	c.550A>G	c.(550-552)ATT>GTT	p.I184V	RNMT_uc002ksl.1_Missense_Mutation_p.I184V|RNMT_uc002ksm.1_Missense_Mutation_p.I184V|RNMT_uc010dlk.2_Missense_Mutation_p.I184V|RNMT_uc010xae.1_RNA	NM_003799	NP_003790	O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	184					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding				0						AAGTGTTCTCATTGGTATGAT	0.348													G	13734595	A	G	13734595	3	3	27	1	0	0	0	0	1	0	0	0	13506	217	8	3	556	3	RNMT	18	13734595	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	52767	13734595	64342653	7327	31278											
RNMT	8731	broad.mit.edu	37	chr18	13742637	13742637	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgaattcttggtctatttTccattgctaaatgagtaaga	7	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:13742637T>C	uc002ksk.1	+	7	1192	c.1125T>C	c.(1123-1125)TTT>TTC	p.F375F	RNMT_uc002ksl.1_Silent_p.F375F|RNMT_uc002ksm.1_Silent_p.F375F|RNMT_uc010dlk.2_Silent_p.F375F|RNMT_uc010xae.1_RNA	NM_003799	NP_003790	O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	375					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding				0						TGGTCTATTTTCCATTGCTAA	0.333													C	13742637	T	C	13742637	2	2	27	1	0	0	0	0	0	0	0	1	13506	1780	62	3		3	RNMT	18	13742637	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	8042	13742637	64334611	7328	31279											
RNMT	8731	broad.mit.edu	37	chr18	13746253	13746253	+	Frame_Shift_Del	DEL	A	A	-													acaatatgaaactagtctacAaaaaaacatttctggaattc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:13746252_13746252CA>C	uc002ksk.1	+	7	1240	c.1173_1173CA>C	c.(1171-1173)tacfs	p.Y391fs	RNMT_uc002ksl.1_Frame_Shift_Del_p.Y391fs|RNMT_uc002ksm.1_Frame_Shift_Del_p.Y391fs|RNMT_uc010dlk.2_Frame_Shift_Del_p.Y391fs|RNMT_uc010xae.1_Non-coding_Transcript	NM_003799	NP_003790	O43148	MCES_HUMAN	Homo sapiens RNA (guanine-7-) methyltransferase (RNMT), mRNA.	391					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	RNA binding|mRNA (guanine-N7-)-methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						AACTAGTCTACAAAAAAACAT	0.303													-	13746253	A	-	13746253	7	5	27	1	0	1	0	1	0	0	0	0	13506	131	5	0	1200	0	RNMT	18	13746253	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	3616	13746253	64330995	7329	31280											
SNRPD1	6632	broad.mit.edu	37	chr18	19203854	19203854	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttacctctggatacactActtgtggatgttgaacctaa	8	8	1	1	rs141663553		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:19203854A>G	uc002ktj.1	+	3	368	c.237A>G	c.(235-237)CTA>CTG	p.L79L		NM_006938	NP_008869	P62314	SMD1_HUMAN	small nuclear ribonucleoprotein D1 polypeptide	79					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding|RNA binding				0						TGGATACACTACTTGTGGATG	0.383													G	19203854	A	G	19203854	2	3	27	1	0	0	0	0	0	0	0	1	14864	378	14	3		3	SNRPD1	18	19203854	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	5457601	19203854	58873394	7330	31281											
GATA6	2627	broad.mit.edu	37	chr18	19762796	19762796	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaacataaataaatcaaagActtgctctggtaaatatact	5	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:19762796A>T	uc002ktt.1	+	5	1772	c.1507A>T	c.(1507-1509)ACT>TCT	p.T503S	GATA6_uc002ktu.1_Missense_Mutation_p.T503S	NM_005257	NP_005248	Q92908	GATA6_HUMAN	GATA binding protein 6	503					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(3)	3	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			TAAATCAAAGACTTGCTCTGG	0.328													T	19762796	A	T	19762796	3	4	27	1	0	0	0	0	1	0	0	0	6258	275	10	5	1521	5	GATA6	18	19762796	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	558942	19762796	58314452	7331	31282											
CABLES1	91768	broad.mit.edu	37	chr18	20814617	20814617	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatcaactggtgcagtgagTttgaaagagatcattggtct	11	6	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:20814617T>C	uc002kuc.2	+	5	1134	c.1134T>C	c.(1132-1134)AGT>AGC	p.S378S	C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_Intron|CABLES1_uc002kud.2_Silent_p.S113S	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1 isoform 2	378	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)	1	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTGCAGTGAGTTTGAAAGAGA	0.512													C	20814617	T	C	20814617	2	2	27	1	0	0	0	0	0	0	0	1	2529	1722	60	3		3	CABLES1	18	20814617	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1051821	20814617	57262631	7332	31283											
C18orf8	29919	broad.mit.edu	37	chr18	21109232	21109232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccagtcagatgtgtacacCcatgtcctgtcagcctttgt	9	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:21109232C>T	uc010xax.1	+	16	1507	c.1386C>T	c.(1384-1386)ACC>ACT	p.T462T	C18orf8_uc002kul.2_RNA|C18orf8_uc010xay.1_Silent_p.T86T|NPC1_uc010dlu.1_RNA	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	462										ovary(1)	1	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATGTGTACACCCATGTCCTGT	0.567													T	21109232	C	T	21109232	2	4	27	1	0	0	0	0	0	0	0	1	1907	610	22	4		4	C18orf8	18	21109232	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	294615	21109232	56968016	7333	31284											
LAMA3	3909	broad.mit.edu	37	chr18	21413846	21413846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggccactacgtggttgtgGtcgagtattccacggaggca	14	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:21413846G>A	uc002kuq.2	+	24	2964	c.2878G>A	c.(2878-2880)GTC>ATC	p.V960I	LAMA3_uc002kur.2_Missense_Mutation_p.V960I	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	960	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGTGGTTGTGGTCGAGTATTC	0.547													A	21413846	G	A	21413846	3	1	27	1	0	0	0	0	1	0	0	0	8607	1261	44	4	2972	4	LAMA3	18	21413846	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	304614	21413846	56663402	7334	31285											
LAMA3	3909	broad.mit.edu	37	chr18	21413908	21413908	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaatgtgaagagctccggGtctgttctggcaggccaggt	16	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:21413908G>A	uc002kuq.2	+	24	3026	c.2940G>A	c.(2938-2940)GGG>GGA	p.G980G	LAMA3_uc002kur.2_Silent_p.G980G	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	980	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAGCTCCGGGTCTGTTCTGG	0.527													A	21413908	G	A	21413908	2	1	27	1	0	0	0	0	0	0	0	1	8607	1248	44	4		4	LAMA3	18	21413908	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	62	21413908	56663340	7335	31286											
LAMA3	3909	broad.mit.edu	37	chr18	21496586	21496586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttccaactcaaccacatgCtcccatcccaacctttggac	4	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:21496586C>T	uc002kuq.2	+	60	7936	c.7850C>T	c.(7849-7851)GCT>GTT	p.A2617V	LAMA3_uc002kur.2_Missense_Mutation_p.A2561V|LAMA3_uc002kus.3_Missense_Mutation_p.A1008V|LAMA3_uc002kut.3_Missense_Mutation_p.A952V	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2617	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAACCACATGCTCCCATCCCA	0.423													T	21496586	C	T	21496586	3	4	27	1	0	0	0	0	1	0	0	0	8607	797	28	2	8263	2	LAMA3	18	21496586	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	82678	21496586	56580662	7336	31287											
LAMA3	3909	broad.mit.edu	37	chr18	21501490	21501490	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaacactataattgatggTgaagtatttgatttcagcac	7	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:21501490T>C	uc002kuq.2	+	62	8204	c.8118T>C	c.(8116-8118)GGT>GGC	p.G2706G	LAMA3_uc002kur.2_Silent_p.G2650G|LAMA3_uc002kus.3_Silent_p.G1097G|LAMA3_uc002kut.3_Silent_p.G1041G	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2706	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAATTGATGGTGAAGTATTTG	0.328													C	21501490	T	C	21501490	2	2	27	1	0	0	0	0	0	0	0	1	8607	1683	59	3		3	LAMA3	18	21501490	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4904	21501490	56575758	7337	31288											
LAMA3	3909	broad.mit.edu	37	chr18	21508129	21508129	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttccgaggctgcatgaaaaaTttgaagaaaaccagtggtgt	11	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:21508129T>A	uc002kuq.2	+	63	8306	c.8220T>A	c.(8218-8220)AAT>AAA	p.N2740K	LAMA3_uc002kur.2_Missense_Mutation_p.N2684K|LAMA3_uc002kus.3_Missense_Mutation_p.N1131K|LAMA3_uc002kut.3_Missense_Mutation_p.N1075K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2740	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCATGAAAAATTTGAAGAAAA	0.418													A	21508129	T	A	21508129	3	1	27	1	0	0	0	0	1	0	0	0	8607	1490	52	5	8645	5	LAMA3	18	21508129	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	6639	21508129	56569119	7338	31289											
OSBPL1A	114876	broad.mit.edu	37	chr18	21819305	21819305	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagtgcttctgacaagatTttgtttttttcttgctcttg	7	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:21819305T>C	uc002kve.2	-	16	1497	c.1323A>G	c.(1321-1323)AAA>AAG	p.K441K	OSBPL1A_uc002kvd.2_5'UTR|OSBPL1A_uc010xbc.1_Silent_p.K59K|OSBPL1A_uc002kvf.3_Silent_p.K221K	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	441	Potential.				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTGACAAGATTTTGTTTTTTT	0.448													C	21819305	T	C	21819305	2	2	27	1	0	0	0	0	0	0	0	1	11277	1838	64	3		3	OSBPL1A	18	21819305	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	311176	21819305	56257943	7339	31290											
HRH4	59340	broad.mit.edu	37	chr18	22057338	22057338	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacaattgtcctttcatttTattcctcagcaacaggtcct	4	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:22057338T>C	uc002kvi.2	+	3	1085	c.985T>C	c.(985-987)TAT>CAT	p.Y329H	HRH4_uc010xbd.1_3'UTR|HRH4_uc010dlx.2_Missense_Mutation_p.Y241H	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	histamine H4 receptor isoform 1	329	Extracellular (Potential).					integral to membrane|plasma membrane	histamine receptor activity			ovary(2)	2	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	CCTTTCATTTTATTCCTCAGC	0.413													C	22057338	T	C	22057338	3	2	27	1	0	0	0	0	1	0	0	0	7358	1754	61	3	995	3	HRH4	18	22057338	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	238033	22057338	56019910	7340	31291											
ZNF521	25925	broad.mit.edu	37	chr18	22807425	22807425	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttgtgtttgaacagccTactgcagtaggtgcatttga	12	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:22807425T>C	uc002kvk.2	-	4	704	c.457A>G	c.(457-459)AGG>GGG	p.R153G	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.R153G|ZNF521_uc002kvl.2_5'UTR	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	153	C2H2-type 3.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTGAACAGCCTACTGCAGTAG	0.498			T	PAX5	ALL								C	22807425	T	C	22807425	3	2	27	1	0	0	0	0	1	0	0	0	17962	1521	53	3	3498	3	ZNF521	18	22807425	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	750087	22807425	55269823	7341	31292											
SS18	6760	broad.mit.edu	37	chr18	23632767	23632767	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggaactgtttgtcatattgAgttgattgggtccaggtccc	12	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:23632767A>T	uc002kvm.2	-	5	506	c.428T>A	c.(427-429)CTC>CAC	p.L143H	SS18_uc002kvn.2_Missense_Mutation_p.L143H|SS18_uc010xbf.1_Missense_Mutation_p.L61H|SS18_uc010xbg.1_Missense_Mutation_p.L91H|SS18_uc010xbh.1_Missense_Mutation_p.L91H|SS18_uc010xbi.1_Missense_Mutation_p.L120H|SS18_uc010dlz.1_Missense_Mutation_p.L91H	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	143	Transcriptional activation.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	soft_tissue(1883)|ovary(1)	1884	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TGTCATATTGAGTTGATTGGG	0.423			T	SSX1| SSX2	synovial sarcoma								T	23632767	A	T	23632767	3	4	27	1	0	0	0	0	1	0	0	0	15174	304	11	5	856	5	SS18	18	23632767	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	825342	23632767	54444481	7342	31293											
PSMA8	143471	broad.mit.edu	37	chr18	23713955	23713955	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtctcgatatgacagggcgaTcactgtcttctccccagacg	10	13	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:23713955T>A	uc002kvq.2	+	1	140	c.26T>A	c.(25-27)ATC>AAC	p.I9N	PSMA8_uc002kvo.2_Missense_Mutation_p.I9N|PSMA8_uc002kvp.2_Missense_Mutation_p.I9N|PSMA8_uc002kvr.2_5'UTR	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	proteasome alpha 8 subunit isoform 1	9					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			skin(1)	1	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GACAGGGCGATCACTGTCTTC	0.582													A	23713955	T	A	23713955	3	1	27	1	0	0	0	0	1	0	0	0	12673	1435	50	5	28	5	PSMA8	18	23713955	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	81188	23713955	54363293	7343	31294											
PSMA8	143471	broad.mit.edu	37	chr18	23738101	23738101	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctagaaatatacccaaagcAatggacgaagaccttttggt	8	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:23738101A>G	uc002kvq.2	+	4	502	c.388A>G	c.(388-390)AAT>GAT	p.N130D	PSMA8_uc002kvo.2_Missense_Mutation_p.N86D|PSMA8_uc002kvp.2_Missense_Mutation_p.N124D|PSMA8_uc002kvr.2_Missense_Mutation_p.N98D	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	proteasome alpha 8 subunit isoform 1	130					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			skin(1)	1	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			TACCCAAAGCAATGGACGAAG	0.303													G	23738101	A	G	23738101	3	3	27	1	0	0	0	0	1	0	0	0	12673	130	5	3	402	3	PSMA8	18	23738101	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	24146	23738101	54339147	7344	31295											
KCTD1	284252	broad.mit.edu	37	chr18	24035751	24035751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggatgacggagggtacacGgggcgtccgcctcagttccc	15	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:24035751G>A	uc002kvw.2	-	5	1290	c.730C>T	c.(730-732)CGT>TGT	p.R244C	KCTD1_uc010xbj.1_Missense_Mutation_p.R852C|KCTD1_uc010xbk.1_Missense_Mutation_p.R244C|KCTD1_uc002kvy.2_3'UTR	NM_001136205	NP_001129677	Q719H9	KCTD1_HUMAN	potassium channel tetramerisation domain	244					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			ovary(1)	1	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			GAGGGTACACGGGGCGTCCGC	0.502													A	24035751	G	A	24035751	3	1	27	1	0	0	0	0	1	0	0	0	8096	1116	39	1	47	1	KCTD1	18	24035751	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	297650	24035751	54041497	7345	31296											
CDH2	1000	broad.mit.edu	37	chr18	25543415	25543415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggtctttcatccattcgtCggattcccacaggcttgatg	10	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:25543415C>T	uc002kwg.2	-	15	2879	c.2420G>A	c.(2419-2421)CGA>CAA	p.R807Q	CDH2_uc010xbn.1_Missense_Mutation_p.R776Q	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	807	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4						ATCCATTCGTCGGATTCCCAC	0.537													T	25543415	C	T	25543415	3	4	27	1	0	0	0	0	1	0	0	0	3105	884	31	1	308	1	CDH2	18	25543415	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1507664	25543415	52533833	7346	31297											
CDH2	1000	broad.mit.edu	37	chr18	25572675	25572675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggtctggatggcgaaccGtccagtaggatctccgccac	13	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:25572675G>A	uc002kwg.2	-	9	1747	c.1288C>T	c.(1288-1290)CGG>TGG	p.R430W	CDH2_uc010xbn.1_Missense_Mutation_p.R399W	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	430	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4						ATGGCGAACCGTCCAGTAGGA	0.527													A	25572675	G	A	25572675	3	1	27	1	0	0	0	0	1	0	0	0	3105	1144	40	1	1464	1	CDH2	18	25572675	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	29260	25572675	52504573	7347	31298											
DSC3	1825	broad.mit.edu	37	chr18	28586996	28586996	+	Frame_Shift_Del	DEL	T	T	-													taaaatgtcggtataccccaTttttggtttgcaaatgacta							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:28586995_28586995AT>A	uc002kwj.4	-	11	1921	c.1766_1766AT>T	c.(1765-1767)atgfs	p.M589fs	DSC3_uc002kwi.4_Frame_Shift_Del_p.M589fs	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	589	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GGTATACCCCATTTTTGGTTT	0.378													-	28586996	T	-	28586996	7	5	27	1	0	1	0	1	0	0	0	0	4767	1493	52	0	976	0	DSC3	18	28586996	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	3014321	28586996	49490252	7348	31299											
DSC2	1824	broad.mit.edu	37	chr18	28659862	28659862	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatatgccatttttgatggtCtctgcctctctatccaggct	7	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:28659862C>A	uc002kwl.3	-	11	2068	c.1614G>T	c.(1612-1614)GAG>GAT	p.E538D	DSC2_uc002kwk.3_Missense_Mutation_p.E538D	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	538	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTTTGATGGTCTCTGCCTCTC	0.388													A	28659862	C	A	28659862	3	1	27	1	0	0	0	0	1	0	0	0	4766	912	32	5	1155	5	DSC2	18	28659862	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	72866	28659862	49417386	7349	31300											
DSG4	147409	broad.mit.edu	37	chr18	28986263	28986263	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcctgtcactgaagaccaAgctggagtttcaaatgttgg	13	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:28986263A>G	uc002kwq.2	+	12	1995	c.1860A>G	c.(1858-1860)CAA>CAG	p.Q620Q	DSG4_uc002kwr.2_Silent_p.Q620Q	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2 preproprotein	620	Extracellular (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTGAAGACCAAGCTGGAGTTT	0.488													G	28986263	A	G	28986263	2	3	27	1	0	0	0	0	0	0	0	1	4779	69	3	3		3	DSG4	18	28986263	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	326401	28986263	49090985	7350	31301											
DSG2	1829	broad.mit.edu	37	chr18	29116236	29116236	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaacgacaactgtcccacaCtgatagagcctgtgcagaca	8	13	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:29116236C>A	uc002kwu.3	+	11	1683	c.1495C>A	c.(1495-1497)CTG>ATG	p.L499M		NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	499	Extracellular (Potential).|Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTGTCCCACACTGATAGAGCC	0.428													A	29116236	C	A	29116236	3	1	27	1	0	0	0	0	1	0	0	0	4777	564	20	5	1537	5	DSG2	18	29116236	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	129973	29116236	48961012	7351	31302											
KIAA1012	22878	broad.mit.edu	37	chr18	29410886	29410886	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaatctcctggcttttAagttgaagtttatactgtgt	9	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:29410886A>G	uc002kxc.3	-	29	4504	c.4140T>C	c.(4138-4140)CTT>CTC	p.L1380L	KIAA1012_uc002kxb.3_Silent_p.L1326L|KIAA1012_uc002kxd.3_RNA	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	1380					ER to Golgi vesicle-mediated transport	cis-Golgi network					0						CCTGGCTTTTAAGTTGAAGTT	0.423													G	29410886	A	G	29410886	2	3	27	1	0	0	0	0	0	0	0	1	8204	349	13	3		3	KIAA1012	18	29410886	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	294650	29410886	48666362	7352	31303											
KIAA1012	22878	broad.mit.edu	37	chr18	29432581	29432581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctttctcacatcttattGccttaaagcaaaactttccc	2	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:29432581G>A	uc002kxc.3	-	23	3843	c.3479C>T	c.(3478-3480)GCA>GTA	p.A1160V	KIAA1012_uc002kxb.3_Missense_Mutation_p.A1106V|KIAA1012_uc002kxd.3_RNA	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	1160					ER to Golgi vesicle-mediated transport	cis-Golgi network		p.A1160G(1)			0						ACATCTTATTGCCTTAAAGCA	0.308													A	29432581	G	A	29432581	3	1	27	1	0	0	0	0	1	0	0	0	8204	1319	46	2	856	2	KIAA1012	18	29432581	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	21695	29432581	48644667	7353	31304											
RNF125	54941	broad.mit.edu	37	chr18	29617122	29617122	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtctaaagaacaacaagTggacctgtccttattgccgg	9	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:29617122T>C	uc002kxf.1	+	2	590	c.208T>C	c.(208-210)TGG>CGG	p.W70R		NM_017831	NP_060301	Q96EQ8	RN125_HUMAN	ring finger protein 125	70	RING-type.				negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding				0						GAACAACAAGTGGACCTGTCC	0.438													C	29617122	T	C	29617122	3	2	27	1	0	0	0	0	1	0	0	0	13434	1696	59	3	214	3	RNF125	18	29617122	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	184541	29617122	48460126	7354	31305											
RNF125	54941	broad.mit.edu	37	chr18	29645945	29645945	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataagacatctgcaagttagTcacactttgttttatgatga	7	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:29645945T>C	uc002kxf.1	+	5	967	c.585T>C	c.(583-585)AGT>AGC	p.S195S		NM_017831	NP_060301	Q96EQ8	RN125_HUMAN	ring finger protein 125	195					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding				0						TGCAAGTTAGTCACACTTTGT	0.358													C	29645945	T	C	29645945	2	2	27	1	0	0	0	0	0	0	0	1	13434	1664	58	3		3	RNF125	18	29645945	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	28823	29645945	48431303	7355	31306											
KLHL14	57565	broad.mit.edu	37	chr18	30349862	30349862	+	Frame_Shift_Del	DEL	G	G	-													agcgccagctccgactccacGgggggcggcagcgagtccag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:30349861_30349861CG>C	uc002kxm.1	-	1	1082	c.694_694CG>G	c.(694-696)gtgfs	p.V232fs		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	232	BACK.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TCCGACTCCACGGGGGGCGGC	0.647													-	30349862	G	-	30349862	7	5	27	1	0	1	0	1	0	0	0	0	8370	1103	39	0	1225	0	KLHL14	18	30349862	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	703917	30349862	47727386	7356	31307											
KLHL14	57565	broad.mit.edu	37	chr18	30350377	30350377	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggggtggctggagaagagcgAtcggaagtactgcgagcagg	20	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:30350377A>T	uc002kxm.1	-	2	566	c.178T>A	c.(178-180)TCG>ACG	p.S60T		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	60	BTB.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						GAGAAGAGCGATCGGAAGTAC	0.587													T	30350377	A	T	30350377	3	4	27	1	0	0	0	0	1	0	0	0	8370	333	12	5	1740	5	KLHL14	18	30350377	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	515	30350377	47726871	7357	31308											
ASXL3	80816	broad.mit.edu	37	chr18	31319679	31319679	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggcacatcagcaaagaaagTcaccttctgtatctgaagag	9	9	4	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:31319679T>A	uc010dmg.1	+	11	2366	c.2311T>A	c.(2311-2313)TCA>ACA	p.S771T	ASXL3_uc002kxq.2_Missense_Mutation_p.S478T	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	771	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						GCAAAGAAAGTCACCTTCTGT	0.468													A	31319679	T	A	31319679	3	1	27	1	0	0	0	0	1	0	0	0	1068	1667	58	5	2353	5	ASXL3	18	31319679	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	969302	31319679	46757569	7358	31309											
ASXL3	80816	broad.mit.edu	37	chr18	31323514	31323514	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccatgctttttaataaaaaTtctgtccctgtatctgtttg	5	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:31323514T>A	uc010dmg.1	+	12	3757	c.3702T>A	c.(3700-3702)AAT>AAA	p.N1234K	ASXL3_uc002kxq.2_Missense_Mutation_p.N941K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1234	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						TTAATAAAAATTCTGTCCCTG	0.368													A	31323514	T	A	31323514	3	1	27	1	0	0	0	0	1	0	0	0	1068	1490	52	5	3748	5	ASXL3	18	31323514	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3835	31323514	46753734	7359	31310											
NOL4	8715	broad.mit.edu	37	chr18	31599387	31599387	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcatctattctgtattcCgaagttagctgcgcagagag	10	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:31599387C>T	uc010dmi.2	-	6	1180	c.951G>A	c.(949-951)TCG>TCA	p.S317S	NOL4_uc010xbs.1_Silent_p.S32S|NOL4_uc002kxr.3_Silent_p.S153S|NOL4_uc010xbt.1_Silent_p.S243S|NOL4_uc010dmh.2_Silent_p.S243S|NOL4_uc010xbu.1_Silent_p.S317S|NOL4_uc002kxt.3_Silent_p.S317S|NOL4_uc010xbv.1_Silent_p.S66S|NOL4_uc010xbw.1_Silent_p.S203S	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	317						nucleolus	RNA binding			ovary(3)	3						TTCTGTATTCCGAAGTTAGCT	0.458													T	31599387	C	T	31599387	2	4	27	1	0	0	0	0	0	0	0	1	10524	639	23	1		1	NOL4	18	31599387	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	275873	31599387	46477861	7360	31311											
ZNF397OS	100101467	broad.mit.edu	37	chr18	32844000	32844000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgatgctctcgcagccaaGcttgcagctcctcaggaagg	12	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:32844000G>A	uc002kym.2	-	2	545	c.317C>T	c.(316-318)GCT>GTT	p.A106V	ZNF397_uc010dmr.2_Intron|ZNF397OS_uc010xce.1_Missense_Mutation_p.A106V|ZNF397OS_uc002kyn.1_Missense_Mutation_p.A106V	NM_001112734	NP_001106205	Q86W11	ZSC30_HUMAN	zinc finger protein 397 opposite strand	106	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TCGCAGCCAAGCTTGCAGCTC	0.562													A	32844000	G	A	32844000	3	1	27	1	0	0	0	0	1	0	0	0	17881	971	34	2	1179	2	ZNF397OS	18	32844000	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1244613	32844000	45233248	7361	31312											
ZNF396	252884	broad.mit.edu	37	chr18	32948335	32948335	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttatctgcctcctgaaagtgAcctggggcacttcagcctag	10	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:32948335A>T	uc010xcf.1	-	5	1114	c.982T>A	c.(982-984)TCA>ACA	p.S328T		NM_145756	NP_665699	Q96N95	ZN396_HUMAN	zinc finger protein 396	Error:Variant_position_missing_in_Q96N95_after_alignment					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CCTGAAAGTGACCTGGGGCAC	0.373													T	32948335	A	T	32948335	3	4	27	1	0	0	0	0	1	0	0	0	17879	275	10	5	23	5	ZNF396	18	32948335	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	104335	32948335	45128913	7362	31313											
RPRD1A	55197	broad.mit.edu	37	chr18	33607161	33607161	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttacctgttattttatctAatagagatacttcttggact	5	7	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:33607161A>G	uc002kzf.1	-	5	605	c.599T>C	c.(598-600)TTA>TCA	p.L200S	RPRD1A_uc002kze.1_Missense_Mutation_p.L164S|RPRD1A_uc002kzg.2_Missense_Mutation_p.L200S|RPRD1A_uc010dmw.2_Missense_Mutation_p.L164S|RPRD1A_uc010dmx.2_Missense_Mutation_p.L200S	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing	200										ovary(1)|breast(1)	2						TATTTTATCTAATAGAGATAC	0.358													G	33607161	A	G	33607161	3	3	27	1	0	0	0	0	1	0	0	0	13615	372	13	3	351	3	RPRD1A	18	33607161	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	658826	33607161	44470087	7363	31314											
SLC39A6	25800	broad.mit.edu	37	chr18	33689669	33689669	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaatacccccagcggctacAtccatggtcactagcatcat	7	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:33689669A>G	uc010dmy.2	-	10	2445	c.2155T>C	c.(2155-2157)TGT>CGT	p.C719R		NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	719	Cytoplasmic (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2						CAGCGGCTACATCCATGGTCA	0.348													G	33689669	A	G	33689669	3	3	27	1	0	0	0	0	1	0	0	0	14622	217	8	3	116	3	SLC39A6	18	33689669	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	82508	33689669	44387579	7364	31315											
SLC39A6	25800	broad.mit.edu	37	chr18	33702206	33702206	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgctggttcttcatggcTatgactatggtggtgacttg	12	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:33702206T>C	uc010dmy.2	-	5	1458	c.1168A>G	c.(1168-1170)AGC>GGC	p.S390G	SLC39A6_uc002kzj.2_Missense_Mutation_p.S115G	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	390	His-rich.|Extracellular (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2						TCTTCATGGCTATGACTATGG	0.383													C	33702206	T	C	33702206	3	2	27	1	0	0	0	0	1	0	0	0	14622	1522	53	3	1135	3	SLC39A6	18	33702206	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	12537	33702206	44375042	7365	31316											
SLC39A6	25800	broad.mit.edu	37	chr18	33706233	33706233	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacataaagccttttcggggCtcactcacagattcatttgt	7	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:33706233C>T	uc010dmy.2	-	2	1028	c.738G>A	c.(736-738)GAG>GAA	p.E246E	SLC39A6_uc002kzj.2_Intron	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	246	Extracellular (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2						CTTTTCGGGGCTCACTCACAG	0.458													T	33706233	C	T	33706233	2	4	27	1	0	0	0	0	0	0	0	1	14622	796	28	2		2	SLC39A6	18	33706233	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4027	33706233	44371015	7366	31317											
ELP2	55250	broad.mit.edu	37	chr18	33726313	33726313	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgctttccacggagcgtTgcacctttggaaacagaata	9	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:33726313T>C	uc002kzk.1	+	11	1104	c.1094T>C	c.(1093-1095)TTG>TCG	p.L365S	ELP2_uc010xcg.1_Missense_Mutation_p.L430S|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.L339S|ELP2_uc010xch.1_Intron|ELP2_uc002kzn.1_Intron|ELP2_uc002kzo.1_Missense_Mutation_p.L295S	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	365	WD 7.				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4						CACGGAGCGTTGCACCTTTGG	0.373													C	33726313	T	C	33726313	3	2	27	1	0	0	0	0	1	0	0	0	5080	1821	63	3	1136	3	ELP2	18	33726313	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	20080	33726313	44350935	7367	31318											
MOCOS	55034	broad.mit.edu	37	chr18	33795548	33795548	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggatctgtgaggatttcaTttggatacatgtcgacgctg	12	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:33795548T>G	uc002kzq.3	+	8	1428	c.1405T>G	c.(1405-1407)TTT>GTT	p.F469V		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	469					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	GAGGATTTCATTTGGATACAT	0.532													G	33795548	T	G	33795548	3	3	27	1	0	0	0	0	1	0	0	0	9689	1493	52	5	1435	5	MOCOS	18	33795548	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	69235	33795548	44281700	7368	31319											
MOCOS	55034	broad.mit.edu	37	chr18	33795876	33795876	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggagtcctggagggggCccttgggccacatgttgtca	16	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:33795876C>G	uc002kzq.3	+	8	1756	c.1733C>G	c.(1732-1734)GCC>GGC	p.A578G		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	578					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	CTGGAGGGGGCCCTTGGGCCA	0.517													G	33795876	C	G	33795876	3	3	27	1	0	0	0	0	1	0	0	0	9689	739	26	5	1763	5	MOCOS	18	33795876	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	328	33795876	44281372	7369	31320											
FHOD3	80206	broad.mit.edu	37	chr18	34205603	34205603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggaccgcagaaggagcCgcaggcactcggtgcagagc	16	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:34205603C>T	uc002kzt.1	+	10	1184	c.1087C>T	c.(1087-1089)CGC>TGC	p.R363C	FHOD3_uc002kzr.1_Missense_Mutation_p.R363C|FHOD3_uc002kzs.1_Missense_Mutation_p.R363C|FHOD3_uc002kzu.1_Missense_Mutation_p.R188C|FHOD3_uc010dmz.1_Missense_Mutation_p.R116C	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	363	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CAGAAGGAGCCGCAGGCACTC	0.687													T	34205603	C	T	34205603	3	4	27	1	0	0	0	0	1	0	0	0	5883	652	23	1	1125	1	FHOD3	18	34205603	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	409727	34205603	43871645	7370	31321											
C18orf10	25941	broad.mit.edu	37	chr18	34398915	34398915	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttttctatgatggtcaccTcagtcacacctggggaagat	10	10	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:34398915T>C	uc002kzw.1	-	2	535	c.107A>G	c.(106-108)GAA>GGA	p.E36G	C18orf10_uc002kzv.1_Missense_Mutation_p.E36G|C18orf10_uc010xci.1_Missense_Mutation_p.E36G|C18orf10_uc002kzx.1_Missense_Mutation_p.E36G|C18orf10_uc002kzy.3_Missense_Mutation_p.E36G	NM_015476	NP_056291	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	36						cytoplasm|microtubule				skin(1)	1						GATGGTCACCTCAGTCACACC	0.443													C	34398915	T	C	34398915	3	2	27	1	0	0	0	0	1	0	0	0	1895	1551	54	3	819	3	C18orf10	18	34398915	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	193312	34398915	43678333	7371	31322											
SETBP1	26040	broad.mit.edu	37	chr18	42530292	42530292	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcccccagaaccaccTacggtgggcagcaagaaaaa	11	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:42530292T>C	uc010dni.2	+	4	1283	c.987T>C	c.(985-987)CCT>CCC	p.P329P		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	329						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAGAACCACCTACGGTGGGCA	0.527									Schinzel-Giedion_syndrome				C	42530292	T	C	42530292	2	2	27	1	0	0	0	0	0	0	0	1	14129	1509	53	3		3	SETBP1	18	42530292	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	8131377	42530292	35546956	7372	31323											
SETBP1	26040	broad.mit.edu	37	chr18	42533228	42533228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctatgaaggctttggaaCgtacagggaaaaggacatcc	13	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:42533228C>T	uc010dni.2	+	4	4219	c.3923C>T	c.(3922-3924)ACG>ATG	p.T1308M		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1308						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GGCTTTGGAACGTACAGGGAA	0.468									Schinzel-Giedion_syndrome				T	42533228	C	T	42533228	3	4	27	1	0	0	0	0	1	0	0	0	14129	536	19	1	4126	1	SETBP1	18	42533228	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2936	42533228	35544020	7373	31324											
SLC14A2	8170	broad.mit.edu	37	chr18	43219786	43219786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaggcggcgtgttcctgGtggctctgttcatctcctcg	14	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:43219786G>A	uc010dnj.2	+	8	1240	c.919G>A	c.(919-921)GTG>ATG	p.V307M	SLC14A2_uc002lbb.2_Missense_Mutation_p.V307M|SLC14A2_uc002lbe.2_Missense_Mutation_p.V307M	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	307	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						CGTGTTCCTGGTGGCTCTGTT	0.562													A	43219786	G	A	43219786	3	1	27	1	0	0	0	0	1	0	0	0	14397	1261	44	4	941	4	SLC14A2	18	43219786	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	686558	43219786	34857462	7374	31325											
KIAA1632	57724	broad.mit.edu	37	chr18	43450705	43450705	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcacctggcaacagctTatctagaatgtgaaaagaaa	8	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:43450705T>C	uc002lbm.2	-	36	6152	c.6052A>G	c.(6052-6054)AAG>GAG	p.K2018E	KIAA1632_uc010xcq.1_Missense_Mutation_p.K572E|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_Intron|KIAA1632_uc002lbn.2_Missense_Mutation_p.K893E	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	2018					autophagy						0						GGCAACAGCTTATCTAGAATG	0.368													C	43450705	T	C	43450705	3	2	27	1	0	0	0	0	1	0	0	0	8249	1763	61	3	1723	3	KIAA1632	18	43450705	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	230919	43450705	34626543	7375	31326											
KIAA1632	57724	broad.mit.edu	37	chr18	43510722	43510722	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagccatctgagcaaaggTagtcagaaggcaaatctctt	10	9	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:43510722T>C	uc002lbm.2	-	12	2432	c.2332A>G	c.(2332-2334)ACC>GCC	p.T778A	KIAA1632_uc002lbo.1_Missense_Mutation_p.T778A	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	778					autophagy						0						TGAGCAAAGGTAGTCAGAAGG	0.363													C	43510722	T	C	43510722	3	2	27	1	0	0	0	0	1	0	0	0	8249	1638	57	3	5539	3	KIAA1632	18	43510722	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	60017	43510722	34566526	7376	31327											
KIAA1632	57724	broad.mit.edu	37	chr18	43532382	43532382	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacctcggccttgctggtgAattgctgaagatctcagaac	10	10	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:43532382A>G	uc002lbm.2	-	3	1336	c.1236T>C	c.(1234-1236)ATT>ATC	p.I412I	KIAA1632_uc002lbo.1_Silent_p.I412I	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	412					autophagy						0						CTTGCTGGTGAATTGCTGAAG	0.403													G	43532382	A	G	43532382	2	3	27	1	0	0	0	0	0	0	0	1	8249	242	9	3		3	KIAA1632	18	43532382	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	21660	43532382	34544866	7377	31328											
PSTPIP2	9050	broad.mit.edu	37	chr18	43577772	43577772	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggaccttatccagggtgccGatgtgcagcatgtatgcttt	12	10	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:43577772G>A	uc002lbp.3	-	9	681	c.585C>T	c.(583-585)ATC>ATT	p.I195I	PSTPIP2_uc002lbq.3_Silent_p.I195I	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting	195						membrane				ovary(1)	1						CCAGGGTGCCGATGTGCAGCA	0.577													A	43577772	G	A	43577772	2	1	27	1	0	0	0	0	0	0	0	1	12722	1048	37	1		1	PSTPIP2	18	43577772	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	45390	43577772	34499476	7378	31329											
PSTPIP2	9050	broad.mit.edu	37	chr18	43578806	43578806	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgccagtttcacaaaaagCtgtgaaaacaaacaaacaaa	6	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:43578806C>T	uc002lbp.3	-	8	613	c.517_splice	c.e8-1	p.L173_splice	PSTPIP2_uc002lbq.3_Splice_Site_p.L173_splice	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting							membrane				ovary(1)	1						TCACAAAAAGCTGTGAAAACA	0.463													T	43578806	C	T	43578806	5	4	27	1	0	0	0	0	0	0	1	0	12722	811	28	2	516	2	PSTPIP2	18	43578806	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1034	43578806	34498442	7379	31330											
ATP5A1	498	broad.mit.edu	37	chr18	43664567	43664567	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctccagtttatcaagatAtccccttacacccgcataga	7	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:43664567A>G	uc002lbr.1	-	11	1573	c.1483T>C	c.(1483-1485)TAT>CAT	p.Y495H	ATP5A1_uc010dnl.1_Missense_Mutation_p.Y445H|ATP5A1_uc002lbs.1_Missense_Mutation_p.Y445H|ATP5A1_uc002lbt.1_Missense_Mutation_p.Y495H	NM_004046	NP_004037	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1	495					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism				0						TTATCAAGATATCCCCTTACA	0.438													G	43664567	A	G	43664567	3	3	27	1	0	0	0	0	1	0	0	0	1147	449	16	3	186	3	ATP5A1	18	43664567	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	85761	43664567	34412681	7380	31331											
HAUS1	115106	broad.mit.edu	37	chr18	43705714	43705714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatttttttttaaagaatcCgtctcttgctcaagtgaaaa	5	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:43705714C>T	uc002lbu.2	+	8	823	c.743C>T	c.(742-744)CCG>CTG	p.P248L	HAUS1_uc002lbv.2_Missense_Mutation_p.P172L	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN	coiled-coil domain containing 5	248					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				ovary(1)	1						TTAAAGAATCCGTCTCTTGCT	0.279													T	43705714	C	T	43705714	3	4	27	1	0	0	0	0	1	0	0	0	6965	652	23	1	773	1	HAUS1	18	43705714	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	41147	43705714	34371534	7381	31332											
PIAS2	9063	broad.mit.edu	37	chr18	44392485	44392485	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggatgaactaacatgagTactgctttcatgggagctgg	13	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:44392485T>C	uc002lck.2	-	14	1935	c.1777A>G	c.(1777-1779)ACT>GCT	p.T593A	PIAS2_uc010dnp.2_Missense_Mutation_p.T291A	NM_004671	NP_004662	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT X isoform	593	Ser-rich.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						CTAACATGAGTACTGCTTTCA	0.473													C	44392485	T	C	44392485	3	2	27	1	0	0	0	0	1	0	0	0	11876	1638	57	3	92	3	PIAS2	18	44392485	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	686771	44392485	33684763	7382	31333											
PIAS2	9063	broad.mit.edu	37	chr18	44470945	44470945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaggaggtcatgcttgcGtccacttttattccgtccag	9	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:44470945G>A	uc002lck.2	-	2	255	c.97C>T	c.(97-99)CGC>TGC	p.R33C	PIAS2_uc010dnp.2_Translation_Start_Site|PIAS2_uc002lcl.2_Missense_Mutation_p.R33C|PIAS2_uc010xda.1_Intron|PIAS2_uc002lcm.2_Missense_Mutation_p.R33C|PIAS2_uc002lcn.1_Missense_Mutation_p.R37C	NM_004671	NP_004662	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT X isoform	33	SAP.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						TCATGCTTGCGTCCACTTTTA	0.423													A	44470945	G	A	44470945	3	1	27	1	0	0	0	0	1	0	0	0	11876	1145	40	1	1895	1	PIAS2	18	44470945	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	78460	44470945	33606303	7383	31334											
TCEB3B	51224	broad.mit.edu	37	chr18	44559507	44559507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctcaggcaggggttgGcccgcttctcagggagccag	16	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:44559507G>A	uc002lcr.1	-	1	2482	c.2129C>T	c.(2128-2130)GCC>GTC	p.A710V	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	710					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GCAGGGGTTGGCCCGCTTCTC	0.537													A	44559507	G	A	44559507	3	1	27	1	0	0	0	0	1	0	0	0	15679	1203	42	2	136	2	TCEB3B	18	44559507	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	88562	44559507	33517741	7384	31335											
TCEB3B	51224	broad.mit.edu	37	chr18	44560674	44560674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catttcctgggtcccggccgTctagactgggcctcttcttg	11	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:44560674T>C	uc002lcr.1	-	1	1315	c.962A>G	c.(961-963)GAC>GGC	p.D321G	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	321					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GTCCCGGCCGTCTAGACTGGG	0.622													C	44560674	T	C	44560674	3	2	27	1	0	0	0	0	1	0	0	0	15679	1667	58	3	1303	3	TCEB3B	18	44560674	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1167	44560674	33516574	7385	31336											
TCEB3B	51224	broad.mit.edu	37	chr18	44560714	44560714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcgagtgactgtgctgagGcctcttctggtgactgtctg	14	9	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:44560714G>A	uc002lcr.1	-	1	1275	c.922C>T	c.(922-924)CCT>TCT	p.P308S	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	308					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						CTGTGCTGAGGCCTCTTCTGG	0.617													A	44560714	G	A	44560714	3	1	27	1	0	0	0	0	1	0	0	0	15679	1203	42	2	1343	2	TCEB3B	18	44560714	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	40	44560714	33516534	7386	31337											
TCEB3B	51224	broad.mit.edu	37	chr18	44561192	44561192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctcagctctgggctcgcgActgtgagacctcgggtgagg	15	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:44561192A>G	uc002lcr.1	-	1	797	c.444T>C	c.(442-444)AGT>AGC	p.S148S	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	148					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TGGGCTCGCGACTGTGAGACC	0.662													G	44561192	A	G	44561192	2	3	27	1	0	0	0	0	0	0	0	1	15679	272	10	3		3	TCEB3B	18	44561192	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	478	44561192	33516056	7387	31338											
TCEB3B	51224	broad.mit.edu	37	chr18	44561608	44561608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgcagcttctccactgCgtgcagcgtagtggaccctg	11	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:44561608C>T	uc002lcr.1	-	1	381	c.28G>A	c.(28-30)GCA>ACA	p.A10T	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	10	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TTCTCCACTGCGTGCAGCGTA	0.602													T	44561608	C	T	44561608	3	4	27	1	0	0	0	0	1	0	0	0	15679	768	27	1	2237	1	TCEB3B	18	44561608	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	416	44561608	33515640	7388	31339											
SMAD2	4087	broad.mit.edu	37	chr18	45374882	45374882	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttctaccgtggcatttcGgttaacattggagagtaaac	9	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:45374882G>A	uc002lcy.2	-	8	1209	c.961C>T	c.(961-963)CGA>TGA	p.R321*	SMAD2_uc002lcz.2_Nonsense_Mutation_p.R321*|SMAD2_uc010xdc.1_Nonsense_Mutation_p.R291*|SMAD2_uc010xdd.1_Nonsense_Mutation_p.R291*	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Sma- and Mad-related protein 2 isoform 1	321	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			large_intestine(3)|lung(1)|central_nervous_system(1)	5						GTGGCATTTCGGTTAACATTG	0.393													A	45374882	G	A	45374882	4	1	27	1	0	0	0	0	0	1	0	0	14758	1124	39	1	458	1	SMAD2	18	45374882	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	813274	45374882	32702366	7389	31340											
ZBTB7C	201501	broad.mit.edu	37	chr18	45566519	45566520	+	Frame_Shift_Ins	INS	-	-	C													ccttgatgggtcccagaggcINSccccccggcaggtcagggaa					rs113275715		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:45566518_45566519G>GC	uc010dnv.3	-	2	1462_1463	c.1026_1027C>GC	c.(1024-1029)gggcctfs	p.G342fs	ZBTB7C_uc002ldb.3_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dnu.3_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dnw.3_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dnx.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dny.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dnz.1_Frame_Shift_Ins_p.G342fs|ZBTB7C_uc010doi.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doj.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dok.1_Frame_Shift_Ins_p.G369fs|ZBTB7C_uc010dol.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010doa.1_Frame_Shift_Ins_p.G342fs|ZBTB7C_uc010dob.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doc.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dod.1_Frame_Shift_Ins_p.G342fs|ZBTB7C_uc010doe.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dof.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dog.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doh.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dom.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010don.1_Frame_Shift_Ins_p.G328fs|ZBTB7C_uc010dop.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doq.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dor.1_Frame_Shift_Ins_p.G342fs|ZBTB7C_uc010dos.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dot.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doo.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dou.1_Frame_Shift_Ins_p.G329fs	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	320						intracellular	nucleic acid binding|zinc ion binding	p.L343L(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GGTCCCAGAGGCCCCCCCGGCA	0.624													C	45566520	-	C	45566519	7	5	27	1	0	1	1	0	0	0	0	0	17552	726	26	0	907	0	ZBTB7C	18	45566519	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	191637	45566519	32510729	7390	31341											
ZBTB7C	201501	broad.mit.edu	37	chr18	45567392	45567392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtcacacagcaggccatcGtgccgttgctcattgaggct	11	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:45567392G>A	uc002lda.2	-	1	103	c.87C>T	c.(85-87)CAC>CAT	p.H29H	ZBTB7C_uc002ldb.2_Silent_p.H29H|ZBTB7C_uc010dnu.2_Silent_p.H38H|ZBTB7C_uc010dnv.2_Silent_p.H51H|ZBTB7C_uc010dnw.2_Silent_p.H29H|ZBTB7C_uc010dnx.1_Silent_p.H29H|ZBTB7C_uc010dny.1_Silent_p.H29H|ZBTB7C_uc010dnz.1_Silent_p.H51H|ZBTB7C_uc010dob.1_Silent_p.H29H|ZBTB7C_uc010doc.1_Silent_p.H38H|ZBTB7C_uc010dod.1_Silent_p.H51H|ZBTB7C_uc010doe.1_Silent_p.H29H|ZBTB7C_uc010dof.1_Silent_p.H29H|ZBTB7C_uc010dog.1_Silent_p.H29H|ZBTB7C_uc010doh.1_Silent_p.H38H|ZBTB7C_uc010doi.1_Silent_p.H29H|ZBTB7C_uc010doj.1_Silent_p.H38H|ZBTB7C_uc010dok.1_Silent_p.H78H|ZBTB7C_uc010dol.1_Silent_p.H38H|ZBTB7C_uc010doa.1_Silent_p.H51H|ZBTB7C_uc010don.1_Silent_p.H37H|ZBTB7C_uc010doo.1_Silent_p.H29H|ZBTB7C_uc010dop.1_Silent_p.H29H|ZBTB7C_uc010doq.1_Silent_p.H38H|ZBTB7C_uc010dor.1_Silent_p.H51H|ZBTB7C_uc010dos.1_Silent_p.H29H|ZBTB7C_uc010dot.1_Silent_p.H29H|ZBTB7C_uc010dou.1_Silent_p.H38H|ZBTB7C_uc010dom.1_Silent_p.H38H	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	29						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						GCAGGCCATCGTGCCGTTGCT	0.572													A	45567392	G	A	45567392	2	1	27	1	0	0	0	0	0	0	0	1	17552	1136	40	1		1	ZBTB7C	18	45567392	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	873	45567392	32509856	7391	31342											
DYM	54808	broad.mit.edu	37	chr18	46645179	46645179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattgttcaaagagatcgcGtttgtaaagcagggcgtata	11	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:46645179G>A	uc002ldi.1	-	15	2046	c.1681C>T	c.(1681-1683)CGC>TGC	p.R561C	DYM_uc010xdf.1_Missense_Mutation_p.R371C|DYM_uc002ldj.3_Missense_Mutation_p.R383C	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	dymeclin	561						Golgi apparatus					0						AAGAGATCGCGTTTGTAAAGC	0.368													A	46645179	G	A	46645179	3	1	27	1	0	0	0	0	1	0	0	0	4840	1145	40	1	340	1	DYM	18	46645179	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1077787	46645179	31432069	7392	31343											
ACAA2	10449	broad.mit.edu	37	chr18	47320717	47320717	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctgcttattttgtgtttTacagcaagattctctgcagt	7	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:47320717T>C	uc002ldw.3	-	5	907	c.510A>G	c.(508-510)GTA>GTG	p.V170V	ACAA2_uc002ldx.3_Silent_p.V167V	NM_006111	NP_006102	P42765	THIM_HUMAN	acetyl-coenzyme A acyltransferase 2	170					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1						TTTTGTGTTTTACAGCAAGAT	0.393													C	47320717	T	C	47320717	2	2	27	1	0	0	0	0	0	0	0	1	105	1741	61	3		3	ACAA2	18	47320717	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	675538	47320717	30756531	7393	31344											
MYO5B	4645	broad.mit.edu	37	chr18	47363953	47363953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggttgttaagagtcactGcgttgatcatgtagaagagc	13	6	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:47363953G>A	uc002leb.2	-	37	5360	c.5072C>T	c.(5071-5073)GCA>GTA	p.A1691V	MYO5B_uc002ldz.2_Missense_Mutation_p.A261V|MYO5B_uc002lea.2_Missense_Mutation_p.A806V	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1691	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		AAGAGTCACTGCGTTGATCAT	0.512													A	47363953	G	A	47363953	3	1	27	1	0	0	0	0	1	0	0	0	10079	1319	46	2	490	2	MYO5B	18	47363953	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	43236	47363953	30713295	7394	31345											
CXXC1	30827	broad.mit.edu	37	chr18	47810331	47810331	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcaagctcatggaatcggCgttccatttcctgaaggcga	10	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:47810331C>A	uc002leq.3	-	10	2079	c.1346G>T	c.(1345-1347)CGC>CTC	p.R449L	MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc010xdi.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.R306L|CXXC1_uc002ler.3_Missense_Mutation_p.R453L|CXXC1_uc010doy.2_Missense_Mutation_p.R449L|CXXC1_uc002les.2_Missense_Mutation_p.R449L	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	449	Potential.				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						ATGGAATCGGCGTTCCATTTC	0.607													A	47810331	C	A	47810331	3	1	27	1	0	0	0	0	1	0	0	0	4097	768	27	5	648	5	CXXC1	18	47810331	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	446378	47810331	30266917	7395	31346											
SKA1	220134	broad.mit.edu	37	chr18	47917530	47917530	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaacctataatcaaattaaTgatgttattaaagaaatcaa	3	4	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:47917530T>C	uc002let.2	+	6	670	c.486T>C	c.(484-486)AAT>AAC	p.N162N	SKA1_uc002leu.2_Silent_p.N162N|SKA1_uc010xdl.1_Silent_p.N116N	NM_145060	NP_659497	Q96BD8	SKA1_HUMAN	spindle and KT associated 1	162					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding				0						ATCAAATTAATGATGTTATTA	0.279													C	47917530	T	C	47917530	2	2	27	1	0	0	0	0	0	0	0	1	14352	1461	51	3		3	SKA1	18	47917530	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	107199	47917530	30159718	7396	31347											
MAPK4	5596	broad.mit.edu	37	chr18	48255702	48255702	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctagagcagtcgcactcGtccatggagcgcgccttcga	11	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:48255702G>A	uc002lev.2	+	6	2242	c.1242G>A	c.(1240-1242)TCG>TCA	p.S414S	MAPK4_uc010xdm.1_Silent_p.S203S|MAPK4_uc010doz.2_3'UTR	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	414					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)		AGTCGCACTCGTCCATGGAGC	0.682													A	48255702	G	A	48255702	2	1	27	1	0	0	0	0	0	0	0	1	9280	1132	40	1		1	MAPK4	18	48255702	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	338172	48255702	29821546	7397	31348											
SMAD4	4089	broad.mit.edu	37	chr18	48603091	48603091	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctgcccaggcagcagcCgtggcaggaaacatccctgg	14	14	0	0	rs140487104	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:48603091C>T	uc010xdp.1	+	11	1930	c.1392C>T	c.(1390-1392)GCC>GCT	p.A464A	SMAD4_uc002lfb.3_Silent_p.A309A	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	464	Poly-Ala.|MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(2)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AGGCAGCAGCCGTGGCAGGAA	0.463									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				T	48603091	C	T	48603091	2	4	27	1	0	0	0	0	0	0	0	1	14760	639	23	1		1	SMAD4	18	48603091	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	347389	48603091	29474157	7398	31349											
DCC	1630	broad.mit.edu	37	chr18	50683828	50683828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcgcccacctgcagaagCgaaagggaacattcaaactt	10	12	1	1	rs145985306	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:50683828C>T	uc002lfe.1	+	8	1951	c.1364C>T	c.(1363-1365)GCG>GTG	p.A455V	DCC_uc010xdr.1_Missense_Mutation_p.A303V|DCC_uc010dpf.1_Missense_Mutation_p.A110V	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	455	Extracellular (Potential).|Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCTGCAGAAGCGAAAGGGAAC	0.502													T	50683828	C	T	50683828	3	4	27	1	0	0	0	0	1	0	0	0	4282	768	27	1	1394	1	DCC	18	50683828	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2080737	50683828	27393420	7399	31350											
DCC	1630	broad.mit.edu	37	chr18	51025679	51025679	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccactgcagcagtgagtgaaGgaccaactacccaacaacca	8	14	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:51025679G>T	uc002lfe.1	+	27	4497	c.3910G>T	c.(3910-3912)GGA>TGA	p.G1304*	DCC_uc010dpf.1_Nonsense_Mutation_p.G937*	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1304	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGTGAGTGAAGGACCAACTAC	0.502													T	51025679	G	T	51025679	4	4	27	1	0	0	0	0	0	1	0	0	4282	1001	35	5	4016	5	DCC	18	51025679	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	341851	51025679	27051569	7400	31351											
MBD2	8932	broad.mit.edu	37	chr18	51731394	51731394	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgattgagaggatcgtttcGcagtctctgtttgttcttct	10	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:51731394G>A	uc002lfg.1	-	2	905	c.676C>T	c.(676-678)CGA>TGA	p.R226*	MBD2_uc002lfh.1_Nonsense_Mutation_p.R226*	NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2 isoform 1	226					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding				0				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	GGATCGTTTCGCAGTCTCTGT	0.368													A	51731394	G	A	51731394	4	1	27	1	0	0	0	0	0	1	0	0	9343	1095	38	1	790	1	MBD2	18	51731394	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	705715	51731394	26345854	7401	31352											
POLI	11201	broad.mit.edu	37	chr18	51807191	51807191	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaattagtttctggtgtcttTaaaccaaatcaacaaacagt	5	7	3	0	rs150177922		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:51807191T>C	uc002lfj.3	+	5	782	c.714T>C	c.(712-714)TTT>TTC	p.F238F	POLI_uc010xds.1_Intron|POLI_uc002lfk.3_Silent_p.F135F|POLI_uc002lfl.1_Silent_p.F170F|POLI_uc010dpg.2_5'Flank	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	DNA polymerase iota	238	UmuC.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			ovary(2)|kidney(1)	3				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		CTGGTGTCTTTAAACCAAATC	0.378								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					C	51807191	T	C	51807191	2	2	27	1	0	0	0	0	0	0	0	1	12203	1751	61	3		3	POLI	18	51807191	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	75797	51807191	26270057	7402	31353											
POLI	11201	broad.mit.edu	37	chr18	51820609	51820609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccaaacttgcagagtgaGcaacttttctccagaaacca	6	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:51820609G>A	uc002lfj.3	+	10	2063	c.1995G>A	c.(1993-1995)GAG>GAA	p.E665E	POLI_uc010xds.1_Silent_p.E586E|POLI_uc002lfk.3_Silent_p.E562E|POLI_uc010dpg.2_Silent_p.E261E	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	DNA polymerase iota	665					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			ovary(2)|kidney(1)	3				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		TGCAGAGTGAGCAACTTTTCT	0.403								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	51820609	G	A	51820609	2	1	27	1	0	0	0	0	0	0	0	1	12203	962	34	2		2	POLI	18	51820609	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	13418	51820609	26256639	7403	31354											
C18orf54	162681	broad.mit.edu	37	chr18	51887090	51887090	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agctgtacagatctgcttctCaagctctacaggcttatatt	7	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:51887090C>T	uc002lfn.3	+	2	264	c.148C>T	c.(148-150)CAA>TAA	p.Q50*	C18orf54_uc002lfo.3_Nonsense_Mutation_p.Q50*	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	hypothetical protein LOC162681 precursor	50						extracellular region				ovary(1)|skin(1)	2				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		ATCTGCTTCTCAAGCTCTACA	0.398													T	51887090	C	T	51887090	4	4	27	1	0	0	0	0	0	1	0	0	1904	827	29	4	150	4	C18orf54	18	51887090	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	66481	51887090	26190158	7404	31355											
TXNL1	9352	broad.mit.edu	37	chr18	54281794	54281794	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatccatagatcggggtaggTtgataaaaatttttacatat	8	4	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:54281794T>C	uc002lgg.2	-	6	845	c.596A>G	c.(595-597)AAC>AGC	p.N199S	TXNL1_uc010xdz.1_RNA|TXNL1_uc002lgh.2_RNA|TXNL1_uc002lgi.2_Missense_Mutation_p.N199S|TXNL1_uc002lgj.1_Missense_Mutation_p.N199S	NM_004786	NP_004777	O43396	TXNL1_HUMAN	thioredoxin-like 1	199	PITH.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity				0				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TCGGGGTAGGTTGATAAAAAT	0.348													C	54281794	T	C	54281794	3	2	27	1	0	0	0	0	1	0	0	0	16801	1725	60	3	285	3	TXNL1	18	54281794	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2394704	54281794	23795454	7405	31356											
WDR7	23335	broad.mit.edu	37	chr18	54353252	54353252	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggattgttacctcggaaataAgtgacatgcaggtgagaaaa	12	5	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:54353252A>G	uc002lgk.1	+	6	797	c.586A>G	c.(586-588)AGT>GGT	p.S196G	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.S196G	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	196	WD 3.									ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		CTCGGAAATAAGTGACATGCA	0.413													G	54353252	A	G	54353252	3	3	27	1	0	0	0	0	1	0	0	0	17317	72	3	3	604	3	WDR7	18	54353252	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	71458	54353252	23723996	7406	31357											
NARS	4677	broad.mit.edu	37	chr18	55287875	55287875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccctctcggtcagagacgtAcagctctgctgtttgacaaa	9	12	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:55287875A>G	uc002lgs.2	-	2	247	c.19T>C	c.(19-21)TAC>CAC	p.Y7H	NARS_uc002lgt.2_Missense_Mutation_p.Y6H|NARS_uc010xea.1_5'UTR|NARS_uc010xeb.1_RNA|NARS_uc010xec.1_Missense_Mutation_p.Y7H|NARS_uc010xed.1_Intron	NM_004539	NP_004530	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	7					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding				0		Colorectal(73;0.227)			L-Asparagine(DB00174)	TCAGAGACGTACAGCTCTGCT	0.408													G	55287875	A	G	55287875	3	3	27	1	0	0	0	0	1	0	0	0	10170	391	14	3	1679	3	NARS	18	55287875	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	934623	55287875	22789373	7407	31358											
ATP8B1	5205	broad.mit.edu	37	chr18	55335735	55335735	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatggtttctggaactccaTcctgtagcttgtcttcaata	7	9	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:55335735T>C	uc002lgw.2	-	18	2135	c.2135A>G	c.(2134-2136)GAT>GGT	p.D712G	uc002lgu.1_RNA|uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	712	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				TGGAACTCCATCCTGTAGCTT	0.358									Byler_disease				C	55335735	T	C	55335735	3	2	27	1	0	0	0	0	1	0	0	0	1194	1435	50	3	1660	3	ATP8B1	18	55335735	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	47860	55335735	22741513	7408	31359											
NEDD4L	23327	broad.mit.edu	37	chr18	55919283	55919283	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagtatttgacgaaaatagActggtaagtggatgcctgta	12	4	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:55919283A>G	uc002lgy.2	+	5	568	c.294A>G	c.(292-294)AGA>AGG	p.R98R	NEDD4L_uc002lgz.2_Silent_p.R98R|NEDD4L_uc002lgx.2_Silent_p.R98R|NEDD4L_uc010xee.1_5'UTR|NEDD4L_uc002lhc.2_Silent_p.R90R|NEDD4L_uc002lhd.2_5'UTR|NEDD4L_uc002lhb.2_5'UTR|NEDD4L_uc002lhe.2_Silent_p.R90R|NEDD4L_uc002lhf.2_5'UTR|NEDD4L_uc010dpl.1_RNA|NEDD4L_uc002lhg.2_5'UTR|NEDD4L_uc002lhh.2_5'UTR	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally	98	C2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			lung(4)	4						ACGAAAATAGACTGGTAAGTG	0.323													G	55919283	A	G	55919283	2	3	27	1	0	0	0	0	0	0	0	1	10311	272	10	3		3	NEDD4L	18	55919283	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	583548	55919283	22157965	7409	31360											
ALPK2	115701	broad.mit.edu	37	chr18	56202770	56202770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaaccccaagagaagcgTgagtcattattggaagacaa	10	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:56202770T>C	uc002lhj.3	-	5	4863	c.4649A>G	c.(4648-4650)CAC>CGC	p.H1550R	ALPK2_uc002lhk.1_Missense_Mutation_p.H881R	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1550							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						AAGAGAAGCGTGAGTCATTAT	0.468													C	56202770	T	C	56202770	3	2	27	1	0	0	0	0	1	0	0	0	545	1696	59	3	1899	3	ALPK2	18	56202770	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	283487	56202770	21874478	7410	31361											
ZNF532	55205	broad.mit.edu	37	chr18	56587856	56587856	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccagcaggctgcagatacGagtggacaagtagagtatca	12	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:56587856G>A	uc002lho.2	+	4	2884	c.2337G>A	c.(2335-2337)ACG>ACA	p.T779T	ZNF532_uc002lhp.2_Silent_p.T777T|ZNF532_uc010xeg.1_Silent_p.T777T|ZNF532_uc002lhr.2_Silent_p.T777T|ZNF532_uc002lhs.2_Silent_p.T777T	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	779	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						CTGCAGATACGAGTGGACAAG	0.423													A	56587856	G	A	56587856	2	1	27	1	0	0	0	0	0	0	0	1	17969	1045	37	1		1	ZNF532	18	56587856	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	385086	56587856	21489392	7411	31362											
ZNF532	55205	broad.mit.edu	37	chr18	56606804	56606804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaagtctgccccaagcacaCattcccacgcctacacacag	5	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:56606804C>T	uc002lho.2	+	6	3203	c.2656C>T	c.(2656-2658)CAT>TAT	p.H886Y	ZNF532_uc002lhp.2_Missense_Mutation_p.H884Y|ZNF532_uc010xeg.1_Missense_Mutation_p.H884Y|ZNF532_uc002lhr.2_Missense_Mutation_p.H884Y|ZNF532_uc002lhs.2_Missense_Mutation_p.H884Y	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	886	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						CCCAAGCACACATTCCCACGC	0.438													T	56606804	C	T	56606804	3	4	27	1	0	0	0	0	1	0	0	0	17969	478	17	4	2666	4	ZNF532	18	56606804	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	18948	56606804	21470444	7412	31363											
ZNF532	55205	broad.mit.edu	37	chr18	56620892	56620892	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgggaaagagaaattggAaaagaaatctccatctcctg	10	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:56620892A>G	uc002lho.2	+	8	3558	c.3011A>G	c.(3010-3012)GAA>GGA	p.E1004G	ZNF532_uc002lhp.2_Missense_Mutation_p.E1002G|ZNF532_uc010xeg.1_Missense_Mutation_p.E1002G|ZNF532_uc002lhr.2_Missense_Mutation_p.E1002G|ZNF532_uc002lhs.2_Missense_Mutation_p.E1002G|ZNF532_uc010xeh.1_Missense_Mutation_p.E96G	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1004					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						GAGAAATTGGAAAAGAAATCT	0.428													G	56620892	A	G	56620892	3	3	27	1	0	0	0	0	1	0	0	0	17969	246	9	3	3029	3	ZNF532	18	56620892	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	14088	56620892	21456356	7413	31364											
GRP	2922	broad.mit.edu	37	chr18	56892961	56892961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagatgtaggttcaaaagGcaaaggtaaaagaaacatac	9	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:56892961G>A	uc002lhv.2	+	2	475	c.377G>A	c.(376-378)GGC>GAC	p.G126D	GRP_uc002lhu.2_Intron|GRP_uc002lhw.2_Missense_Mutation_p.G126D	NM_002091	NP_002082	P07492	GRP_HUMAN	gastrin-releasing peptide isoform 1	126					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity				0		Colorectal(73;0.0946)				GGTTCAAAAGGCAAAGGTAAA	0.478													A	56892961	G	A	56892961	3	1	27	1	0	0	0	0	1	0	0	0	6805	1203	42	2	383	2	GRP	18	56892961	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	272069	56892961	21184287	7414	31365											
CPLX4	339302	broad.mit.edu	37	chr18	56979972	56979972	+	Frame_Shift_Del	DEL	T	T	-													tgaggcatgccctttctgccTttttctgtgtaaatgcagca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:56979971_56979971CT>C	uc002lhy.3	-	1	388	c.201_201AG>G	c.(199-201)aagfs	p.K67fs		NM_181654	NP_857637	Q7Z7G2	CPLX4_HUMAN	Homo sapiens complexin 4 (CPLX4), mRNA.	67					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				CCCTTTCTGCCTTTTTCTGTG	0.393													-	56979972	T	-	56979972	7	5	27	1	0	1	0	1	0	0	0	0	3807	1609	56	0	290	0	CPLX4	18	56979972	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	87011	56979972	21097276	7415	31366											
LMAN1	3998	broad.mit.edu	37	chr18	57006142	57006142	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgattctgtccttcaaagacTtgtcttagctctcgatctcc	6	13	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:57006142T>C	uc002lhz.2	-	9	1031	c.999A>G	c.(997-999)CAA>CAG	p.Q333Q		NM_005570	NP_005561	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1 precursor	333	Lumenal (Potential).				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			skin(1)	1		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CTTCAAAGACTTGTCTTAGCT	0.363													C	57006142	T	C	57006142	2	2	27	1	0	0	0	0	0	0	0	1	8836	1606	56	3		3	LMAN1	18	57006142	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	26170	57006142	21071106	7416	31367											
MC4R	4160	broad.mit.edu	37	chr18	58038610	58038610	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgctagacaagtcacaaaGgcctcccaggggatagcaac	10	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:58038610G>T	uc002lie.1	-	1	1392	c.973C>A	c.(973-975)CTT>ATT	p.L325I		NM_005912	NP_005903	P32245	MC4R_HUMAN	melanocortin 4 receptor	325	Cytoplasmic (Potential).		L -> F (in obesity; does not bind alpha- MSH).		feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			lung(1)	1		Colorectal(73;0.0946)				AAGTCACAAAGGCCTCCCAGG	0.418													T	58038610	G	T	58038610	3	4	27	1	0	0	0	0	1	0	0	0	9366	1000	35	5	29	5	MC4R	18	58038610	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1032468	58038610	20038638	7417	31368											
CDH20	28316	broad.mit.edu	37	chr18	59157790	59157790	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacctggcaatcccatgTggacttctggtagaatgagc	11	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:59157790T>C	uc010dps.1	+	1	16	c.4T>C	c.(4-6)TGG>CGG	p.W2R	CDH20_uc002lif.2_5'UTR	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	2					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				CAATCCCATGTGGACTTCTGG	0.423													C	59157790	T	C	59157790	3	2	27	1	0	0	0	0	1	0	0	0	3106	1696	59	3	6	3	CDH20	18	59157790	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1119180	59157790	18919458	7418	31369											
CDH20	28316	broad.mit.edu	37	chr18	59195450	59195450	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agatgtgaccaacaactcaaTcaggtttttccacagatttc	6	10	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:59195450T>A	uc010dps.1	+	6	1280	c.1268T>A	c.(1267-1269)ATC>AAC	p.I423N	CDH20_uc002lif.2_Missense_Mutation_p.I417N	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	423	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				AACAACTCAATCAGGTTTTTC	0.423													A	59195450	T	A	59195450	3	1	27	1	0	0	0	0	1	0	0	0	3106	1435	50	5	1290	5	CDH20	18	59195450	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	37660	59195450	18881798	7419	31370											
RNF152	220441	broad.mit.edu	37	chr18	59483549	59483549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgcggcaccaggggcaccGcacatccttctggctggtcc	12	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:59483549G>A	uc002lih.1	-	2	560	c.148C>T	c.(148-150)CGG>TGG	p.R50W		NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	ring finger protein 152	50	RING-type.				apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)	1		Colorectal(73;0.186)				CAGGGGCACCGCACATCCTTC	0.642													A	59483549	G	A	59483549	3	1	27	1	0	0	0	0	1	0	0	0	13453	1086	38	1	467	1	RNF152	18	59483549	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	288099	59483549	18593699	7420	31371											
PIGN	23556	broad.mit.edu	37	chr18	59777147	59777148	+	Frame_Shift_Ins	INS	-	-	A													gacaggcttgaatcagcagaINSaaaaatgctactaaaatgcc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:59777146_59777147G>GA	uc021ulb.1	-	13	1526_1527	c.1494_1495C>TC	c.(1492-1497)tttctgfs	p.F498fs	PIGN_uc021ulc.1_Frame_Shift_Ins_p.F124fs|PIGN_uc021uld.1_Frame_Shift_Ins_p.F124fs	NM_176787	NP_789744	O95427	PIGN_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class N (PIGN), transcript variant 1, mRNA.	498					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups	p.L499L(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				TGAATCAGCAGAAAAAATGCTA	0.386													A	59777148	-	A	59777147	7	5	27	1	0	1	1	0	0	0	0	0	11893	243	9	0	1361	0	PIGN	18	59777147	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	293598	59777147	18300101	7421	31372											
ZCCHC2	54877	broad.mit.edu	37	chr18	60242140	60242140	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcacagcagcaacttcTccccagccagcgagcgcagg	10	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:60242140T>C	uc002lip.3	+	13	2826	c.2826T>C	c.(2824-2826)TCT>TCC	p.S942S	ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Silent_p.S412S	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	942					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			lung(1)|prostate(1)	2						CAGCAACTTCTCCCCAGCCAG	0.647													C	60242140	T	C	60242140	2	2	27	1	0	0	0	0	0	0	0	1	17584	1538	54	3		3	ZCCHC2	18	60242140	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	464993	60242140	17835108	7422	31373											
ZCCHC2	54877	broad.mit.edu	37	chr18	60242648	60242648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagattctatcctgtatatCcagcacctaacgtagttgcc	8	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:60242648C>T	uc002lip.3	+	13	3334	c.3334C>T	c.(3334-3336)CCA>TCA	p.P1112S	ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Missense_Mutation_p.P582S	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1112					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			lung(1)|prostate(1)	2						TCCTGTATATCCAGCACCTAA	0.493													T	60242648	C	T	60242648	3	4	27	1	0	0	0	0	1	0	0	0	17584	855	30	4	3384	4	ZCCHC2	18	60242648	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	508	60242648	17834600	7423	31374											
PHLPP1	23239	broad.mit.edu	37	chr18	60562361	60562361	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcaatgccctgcgatcAgtcccggcagccgttggagt	12	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:60562361A>G	uc002lis.2	+	6	826	c.648A>G	c.(646-648)TCA>TCG	p.S216S		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	728	LRR 4.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0						CCCTGCGATCAGTCCCGGCAG	0.547													G	60562361	A	G	60562361	2	3	27	1	0	0	0	0	0	0	0	1	11854	175	7	3		3	PHLPP1	18	60562361	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	319713	60562361	17514887	7424	31375											
KDSR	2531	broad.mit.edu	37	chr18	61022445	61022445	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atttttacttacttcaaaggTactaacttcaagatcttcaa	3	8	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:61022445T>A	uc010dpw.2	-	5	564	c.409A>T	c.(409-411)ACC>TCC	p.T137S	KDSR_uc010xem.1_Missense_Mutation_p.T137S	NM_002035	NP_002026	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase precursor	137	Cytoplasmic (Potential).				3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			skin(1)	1						ACTTCAAAGGTACTAACTTCA	0.393													A	61022445	T	A	61022445	3	1	27	1	0	0	0	0	1	0	0	0	8140	1638	57	5	613	5	KDSR	18	61022445	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	460084	61022445	17054803	7425	31376											
VPS4B	9525	broad.mit.edu	37	chr18	61067829	61067830	+	Frame_Shift_Ins	INS	-	-	A													agatcagaggaagatattgaINSaaaaaatgttgagttgttgg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:61067828_61067829G>GA	uc002lix.3	-	5	852_853	c.592_593C>TC	c.(592-594)tcafs	p.S198fs	VPS4B_uc010dpx.3_Frame_Shift_Ins_p.S198fs|VPS4B_uc010dpy.3_Frame_Shift_Ins_p.S80fs|VPS4B_uc010dpz.1_Frame_Shift_Ins_p.S80fs	NM_004869	NP_004860	O75351	VPS4B_HUMAN	Homo sapiens vacuolar protein sorting 4 homolog B (S. cerevisiae) (VPS4B), mRNA.	198					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						GGAAGATATTGAAAAAAATGTT	0.371													A	61067830	-	A	61067829	7	5	27	1	0	1	1	0	0	0	0	0	17210	246	9	0	766	0	VPS4B	18	61067829	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	45384	61067829	17009419	7426	31377											
SERPINB13	5275	broad.mit.edu	37	chr18	61261619	61261619	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggacttgttcccagatggctCtattagtagctctaccaagc	9	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:61261619C>T	uc002ljc.2	+	6	671	c.503C>T	c.(502-504)TCT>TTT	p.S168F	SERPINB13_uc002ljd.2_Missense_Mutation_p.S32F|SERPINB13_uc010xep.1_Missense_Mutation_p.S177F|SERPINB13_uc010xeq.1_5'UTR|SERPINB13_uc010xer.1_5'UTR	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	serine (or cysteine) proteinase inhibitor, clade	168					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1						CCAGATGGCTCTATTAGTAGC	0.358													T	61261619	C	T	61261619	3	4	27	1	0	0	0	0	1	0	0	0	14100	913	32	4	521	4	SERPINB13	18	61261619	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	193790	61261619	16815629	7427	31378											
SERPINB11	89778	broad.mit.edu	37	chr18	61378571	61378571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttttttcttttctaggtGcttcattttagtcatactgt	5	7	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:61378571G>A	uc002ljk.3	+	3	233	c.171G>A	c.(169-171)GTG>GTA	p.V57V	SERPINB11_uc010xes.1_5'UTR|SERPINB11_uc010dqd.2_5'UTR|SERPINB11_uc002ljj.3_5'UTR|SERPINB11_uc010dqe.2_5'UTR|SERPINB11_uc010dqf.2_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B, member 11	57					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)	1		Esophageal squamous(42;0.129)				TTTTCTAGGTGCTTCATTTTA	0.333													A	61378571	G	A	61378571	2	1	27	1	0	0	0	0	0	0	0	1	14098	1306	46	2		2	SERPINB11	18	61378571	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	116952	61378571	16698677	7428	31379											
SERPINB7	8710	broad.mit.edu	37	chr18	61449733	61449733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgctgccctggccctggtcCgcttgggcgctcaagatgac	13	15	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:61449733C>T	uc002ljl.2	+	2	223	c.127C>T	c.(127-129)CGC>TGC	p.R43C	SERPINB7_uc002ljm.2_Missense_Mutation_p.R43C|SERPINB7_uc010xet.1_Missense_Mutation_p.R43C|SERPINB7_uc010dqg.2_Missense_Mutation_p.R43C	NM_001040147	NP_001035237	O75635	SPB7_HUMAN	serine (or cysteine) proteinase inhibitor, clade	43					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			lung(2)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)				GGCCCTGGTCCGCTTGGGCGC	0.468													T	61449733	C	T	61449733	3	4	27	1	0	0	0	0	1	0	0	0	14106	652	23	1	129	1	SERPINB7	18	61449733	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	71162	61449733	16627515	7429	31380											
SERPINB7	8710	broad.mit.edu	37	chr18	61460423	61460424	+	Frame_Shift_Ins	INS	-	-	T													cagtctcaactgaaaagagtINStttttctgatataaatgcat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:61460422_61460423G>GT	uc002ljl.3	+	3	343_344	c.247_248G>GT	c.(247-249)gttfs	p.V83fs	SERPINB7_uc002ljm.3_Frame_Shift_Ins_p.V83fs|SERPINB7_uc010xet.2_Frame_Shift_Ins_p.V66fs|SERPINB7_uc010dqg.3_Frame_Shift_Ins_p.V83fs	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	83					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				ACTGAAAAGAGTTTTTTCTGAT	0.327													T	61460424	-	T	61460423	7	5	27	1	0	1	1	0	0	0	0	0	14106	1725	60	0	258	0	SERPINB7	18	61460423	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	10690	61460423	16616825	7430	31381											
SERPINB2	5055	broad.mit.edu	37	chr18	61562597	61562597	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagatccagaagggtagtTatcctgatgcgattttgcag	12	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:61562597T>C	uc010xeu.1	+	4	601	c.268T>C	c.(268-270)TAT>CAT	p.Y90H	SERPINB2_uc002ljo.2_Missense_Mutation_p.Y90H|SERPINB2_uc010dqh.2_Missense_Mutation_p.Y20H|SERPINB2_uc002ljp.1_5'Flank|SERPINB2_uc002ljq.1_5'Flank	NM_001143818	NP_001137290	P05120	PAI2_HUMAN	serine (or cysteine) proteinase inhibitor, clade	90					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			lung(1)|skin(1)	2		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GAAGGGTAGTTATCCTGATGC	0.388													C	61562597	T	C	61562597	3	2	27	1	0	0	0	0	1	0	0	0	14101	1754	61	3	274	3	SERPINB2	18	61562597	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	102174	61562597	16514651	7431	31382											
CDH7	1005	broad.mit.edu	37	chr18	63547677	63547677	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actatgagaagacggaaaaaAgagccccttatttttgacga	9	7	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:63547677A>G	uc002ljz.2	+	12	2230	c.1905A>G	c.(1903-1905)AAA>AAG	p.K635K	CDH7_uc002lkb.2_Silent_p.K635K	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	635	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				GACGGAAAAAAGAGCCCCTTA	0.453													G	63547677	A	G	63547677	2	3	27	1	0	0	0	0	0	0	0	1	3115	69	3	3		3	CDH7	18	63547677	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1985080	63547677	14529571	7432	31383											
CDH7	1005	broad.mit.edu	37	chr18	63548091	63548091	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcgctttaaacgactcgcGgacatgtatgggactggcca	11	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:63548091G>T	uc002ljz.2	+	12	2644	c.2319G>T	c.(2317-2319)GCG>GCT	p.A773A	CDH7_uc002lkb.2_Silent_p.A773A	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	773	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A773T(1)		ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				AACGACTCGCGGACATGTATG	0.403													T	63548091	G	T	63548091	2	4	27	1	0	0	0	0	0	0	0	1	3115	1103	39	5		5	CDH7	18	63548091	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	414	63548091	14529157	7433	31384											
CDH19	28513	broad.mit.edu	37	chr18	64212087	64212087	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attatcatatgccatgattgTtcctatagaagtcccagtgg	8	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:64212087T>C	uc002lkc.1	-	6	967	c.829A>G	c.(829-831)ACA>GCA	p.T277A	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.T277A|CDH19_uc002lkd.2_Missense_Mutation_p.T277A	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	277	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				GCCATGATTGTTCCTATAGAA	0.343													C	64212087	T	C	64212087	3	2	27	1	0	0	0	0	1	0	0	0	3104	1725	60	3	1517	3	CDH19	18	64212087	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	663996	64212087	13865161	7434	31385											
DSEL	92126	broad.mit.edu	37	chr18	65178576	65178576	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacactgcatttgatttggaTtttgataattctttcctcaa	6	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:65178576T>C	uc002lke.1	-	2	4524	c.3300A>G	c.(3298-3300)AAA>AAG	p.K1100K		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1090			K -> E (in a colorectal cancer sample; somatic mutation).			integral to membrane	isomerase activity|sulfotransferase activity	p.K1100E(1)		ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				TTGATTTGGATTTTGATAATT	0.378													C	65178576	T	C	65178576	2	2	27	1	0	0	0	0	0	0	0	1	4775	1490	52	3		3	DSEL	18	65178576	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	966489	65178576	12898672	7435	31386											
DSEL	92126	broad.mit.edu	37	chr18	65180565	65180565	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacacaaaggtgttggtctgTgtgtttggcaacccagcccc	12	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:65180565T>C	uc002lke.1	-	2	2535	c.1311A>G	c.(1309-1311)ACA>ACG	p.T437T		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	427						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				TGTTGGTCTGTGTGTTTGGCA	0.483													C	65180565	T	C	65180565	2	2	27	1	0	0	0	0	0	0	0	1	4775	1683	59	3		3	DSEL	18	65180565	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1989	65180565	12896683	7436	31387											
TMX3	54495	broad.mit.edu	37	chr18	66346763	66346763	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaatgctatcacctccTtgggccttcaaaaaaggaaa	7	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:66346763T>C	uc002lkf.2	-	15	1176	c.1041A>G	c.(1039-1041)CAA>CAG	p.Q347Q	TMX3_uc010xez.1_Silent_p.Q206Q	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN	thioredoxin domain containing 10 precursor	347	Lumenal (Potential).				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			skin(1)	1						TATCACCTCCTTGGGCCTTCA	0.328													C	66346763	T	C	66346763	2	2	27	1	0	0	0	0	0	0	0	1	16265	1606	56	3		3	TMX3	18	66346763	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1166198	66346763	11730485	7437	31388											
RTTN	25914	broad.mit.edu	37	chr18	67692051	67692051	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggccagagagagtgcaAgacagggacaaggtgagctt	15	8	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:67692051A>C	uc002lkp.2	-	44	5925	c.5857T>G	c.(5857-5859)TTG>GTG	p.L1953V	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.L1041V|RTTN_uc010dqp.2_Missense_Mutation_p.L205V	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1953							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				AGAGAGTGCAAGACAGGGACA	0.378													C	67692051	A	C	67692051	3	2	27	1	0	0	0	0	1	0	0	0	13737	69	3	5	847	5	RTTN	18	67692051	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1345288	67692051	10385197	7438	31389											
RTTN	25914	broad.mit.edu	37	chr18	67695984	67695984	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattcctcattttgataaagAcagtttcttaggagctgcat	7	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:67695984A>G	uc002lkp.2	-	43	5867	c.5799T>C	c.(5797-5799)TGT>TGC	p.C1933C	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.C1021C|RTTN_uc010dqp.2_Silent_p.C185C	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1933							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				TTTGATAAAGACAGTTTCTTA	0.308													G	67695984	A	G	67695984	2	3	27	1	0	0	0	0	0	0	0	1	13737	273	10	3		3	RTTN	18	67695984	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3933	67695984	10381264	7439	31390											
RTTN	25914	broad.mit.edu	37	chr18	67802453	67802453	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgatacttcatcaaataatAgaagacaaaatagtgctcca	5	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:67802453A>C	uc002lkp.2	-	22	2920	c.2852T>G	c.(2851-2853)CTA>CGA	p.L951R	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.L39R	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	951							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				ATCAAATAATAGAAGACAAAA	0.284													C	67802453	A	C	67802453	3	2	27	1	0	0	0	0	1	0	0	0	13737	420	15	5	3940	5	RTTN	18	67802453	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	106469	67802453	10274795	7440	31391											
RTTN	25914	broad.mit.edu	37	chr18	67813010	67813010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctaaaagctttaatgctagCgaacggaccctgagaacaca	9	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:67813010C>T	uc002lkp.2	-	18	2387	c.2319G>A	c.(2317-2319)TCG>TCA	p.S773S	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	773							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				TTAATGCTAGCGAACGGACCC	0.383													T	67813010	C	T	67813010	2	4	27	1	0	0	0	0	0	0	0	1	13737	755	27	1		1	RTTN	18	67813010	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	10557	67813010	10264238	7441	31392											
RTTN	25914	broad.mit.edu	37	chr18	67816137	67816137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagattacgttgtactcacGatggctttttcactagcaaa	7	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:67816137G>A	uc002lkp.2	-	17	2377	c.2309C>T	c.(2308-2310)TCG>TTG	p.S770L	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	770							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				TTGTACTCACGATGGCTTTTT	0.353													A	67816137	G	A	67816137	3	1	27	1	0	0	0	0	1	0	0	0	13737	1072	37	1	4503	1	RTTN	18	67816137	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3127	67816137	10261111	7442	31393											
RTTN	25914	broad.mit.edu	37	chr18	67860532	67860532	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctagcagtcacctagaggaCgctgcatcccagtcctggcc	11	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:67860532C>T	uc002lkp.2	-	8	1067	c.999G>A	c.(997-999)GCG>GCA	p.A333A	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Silent_p.A333A	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	333							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				ACCTAGAGGACGCTGCATCCC	0.507													T	67860532	C	T	67860532	2	4	27	1	0	0	0	0	0	0	0	1	13737	523	19	1		1	RTTN	18	67860532	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	44395	67860532	10216716	7443	31394											
SOCS6	9306	broad.mit.edu	37	chr18	67993122	67993122	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgtgccagatggttctttTcttgttcgggacagttctga	11	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:67993122T>C	uc002lkr.1	+	2	1534	c.1218T>C	c.(1216-1218)TTT>TTC	p.F406F	SOCS6_uc010dqq.2_Silent_p.F406F	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	406	SH2.				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)|lung(1)	2		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				ATGGTTCTTTTCTTGTTCGGG	0.473													C	67993122	T	C	67993122	2	2	27	1	0	0	0	0	0	0	0	1	14918	1780	62	3		3	SOCS6	18	67993122	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	132590	67993122	10084126	7444	31395											
SOCS6	9306	broad.mit.edu	37	chr18	67993331	67993331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttgttattcaaggtctcGgctgcctggatctgcaactt	9	9	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:67993331G>A	uc002lkr.1	+	2	1743	c.1427G>A	c.(1426-1428)CGG>CAG	p.R476Q	SOCS6_uc010dqq.2_Missense_Mutation_p.R476Q	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	476	SH2.				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)|lung(1)	2		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TCAAGGTCTCGGCTGCCTGGA	0.478													A	67993331	G	A	67993331	3	1	27	1	0	0	0	0	1	0	0	0	14918	1116	39	1	1429	1	SOCS6	18	67993331	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	209	67993331	10083917	7445	31396											
CBLN2	147381	broad.mit.edu	37	chr18	70205945	70205945	+	Frame_Shift_Del	DEL	T	T	-													aagctgaagctataaatcccTtttctcggtgctacaaatat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:70205944_70205944CT>C	uc002lku.2	-	2	656	c.421_421AG>G	c.(421-423)gggfs	p.G141fs	CBLN2_uc002lkv.2_Frame_Shift_Del_p.G141fs	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	Homo sapiens cerebellin 2 precursor (CBLN2), mRNA.	141	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CTATAAATCCCTTTTCTCGGT	0.403													-	70205945	T	-	70205945	7	5	27	1	0	1	0	1	0	0	0	0	2705	1606	56	0	262	0	CBLN2	18	70205945	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	2212614	70205945	7871303	7446	31397											
C18orf55	29090	broad.mit.edu	37	chr18	71822396	71822396	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtgaaagaagccggaagAgattttacctatttaatagt	9	5	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:71822396A>C	uc010dqr.1	+	2	616	c.318A>C	c.(316-318)AGA>AGC	p.R106S		NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN	hypothetical protein LOC29090 precursor	106					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane					0		Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211)				AAGCCGGAAGAGATTTTACCT	0.423													C	71822396	A	C	71822396	3	2	27	1	0	0	0	0	1	0	0	0	1905	301	11	5	324	5	C18orf55	18	71822396	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1616451	71822396	6254852	7447	31398											
C18orf55	29090	broad.mit.edu	37	chr18	71822623	71822623	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagagccttagaaaaatgCagatcacatcctgaggttag	12	7	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:71822623C>T	uc010dqr.1	+	3	745	c.447C>T	c.(445-447)TGC>TGT	p.C149C		NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN	hypothetical protein LOC29090 precursor	149					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane					0		Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211)				TAGAAAAATGCAGATCACATC	0.408													T	71822623	C	T	71822623	2	4	27	1	0	0	0	0	0	0	0	1	1905	718	25	2		2	C18orf55	18	71822623	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	227	71822623	6254625	7448	31399											
FAM69C	125704	broad.mit.edu	37	chr18	72109298	72109298	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgtgcagttttgctcaagGatttccctcattttaggttc	8	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:72109298G>A	uc002llk.2	-	3	939	c.930C>T	c.(928-930)ATC>ATT	p.I310I		NM_001044369	NP_001037834	Q0P6D2	FA69C_HUMAN	hypothetical protein LOC125704	310	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0						TTTGCTCAAGGATTTCCCTCA	0.453													A	72109298	G	A	72109298	2	1	27	1	0	0	0	0	0	0	0	1	5604	1164	41	4		4	FAM69C	18	72109298	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	286675	72109298	5967950	7449	31400											
CNDP2	55748	broad.mit.edu	37	chr18	72186224	72186224	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaccagggaaggcggcagTattcccgtgaccttgacctt	12	11	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:72186224T>C	uc002llm.1	+	11	1413	c.1251T>C	c.(1249-1251)AGT>AGC	p.S417S	CNDP2_uc002lln.1_Silent_p.S333S|CNDP2_uc010dqs.2_Intron	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2	417		Substrate; via amide nitrogen and carbonyl oxygen (By similarity).				cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			ovary(2)|skin(1)	3		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		AAGGCGGCAGTATTCCCGTGA	0.552													C	72186224	T	C	72186224	2	2	27	1	0	0	0	0	0	0	0	1	3594	1635	57	3		3	CNDP2	18	72186224	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	76926	72186224	5891024	7450	31401											
ZNF407	55628	broad.mit.edu	37	chr18	72353051	72353051	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaaaggcaccttgggaTgagggaatacaagtgtcatg	14	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:72353051T>C	uc002llw.2	+	2	4832	c.4775T>C	c.(4774-4776)ATG>ACG	p.M1592T	ZNF407_uc010xfc.1_Missense_Mutation_p.M1592T|ZNF407_uc010dqu.1_Missense_Mutation_p.M1592T	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CACCTTGGGATGAGGGAATAC	0.443													C	72353051	T	C	72353051	3	2	27	1	0	0	0	0	1	0	0	0	17884	1464	51	3	4781	3	ZNF407	18	72353051	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	166827	72353051	5724197	7451	31402											
ZNF407	55628	broad.mit.edu	37	chr18	72632493	72632493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactgtgctgaaaatatccGcaaacacattctgcatactg	6	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:72632493G>A	uc002llw.2	+	7	5330	c.5273G>A	c.(5272-5274)CGC>CAC	p.R1758H	ZNF407_uc010dqu.1_Missense_Mutation_p.R1758H	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1758	C2H2-type 21.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAAAATATCCGCAAACACATT	0.398													A	72632493	G	A	72632493	3	1	27	1	0	0	0	0	1	0	0	0	17884	1087	38	1	5409	1	ZNF407	18	72632493	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	279442	72632493	5444755	7452	31403											
TSHZ1	10194	broad.mit.edu	37	chr18	72998127	72998127	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagactgcagtgccgcgtaCgacacgctggtggaactgac	13	11	0	2	rs146373782		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:72998127C>T	uc002lly.2	+	2	1193	c.630C>T	c.(628-630)TAC>TAT	p.Y210Y		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	255	C2H2-type 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GTGCCGCGTACGACACGCTGG	0.592													T	72998127	C	T	72998127	2	4	27	1	0	0	0	0	0	0	0	1	16620	547	19	1		1	TSHZ1	18	72998127	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	365634	72998127	5079121	7453	31404											
TSHZ1	10194	broad.mit.edu	37	chr18	72998443	72998444	+	Frame_Shift_Ins	INS	-	-	C													ggcgcttcaggacctggcgcINSccccctgctcccctgagcca					rs149658226	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:72998442_72998443G>GC	uc002lly.3	+	1	1508_1509	c.945_946G>GC	c.(943-948)gcgcccfs	p.A315fs	TSHZ1_uc021uln.1_Frame_Shift_Ins_p.A315fs	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	360						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C318fs*14(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGGACCTGGCGCCCCCCTGCTC	0.594													C	72998444	-	C	72998443	7	5	27	1	0	1	1	0	0	0	0	0	16620	739	26	0	948	0	TSHZ1	18	72998443	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	316	72998443	5078805	7454	31405											
TSHZ1	10194	broad.mit.edu	37	chr18	72999306	72999306	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtggagaaggtcacgggCaaggtcaacatcaagaagga	15	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:72999306C>T	uc002lly.2	+	2	2372	c.1809C>T	c.(1807-1809)GGC>GGT	p.G603G		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	648						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGGTCACGGGCAAGGTCAACA	0.597													T	72999306	C	T	72999306	2	4	27	1	0	0	0	0	0	0	0	1	16620	697	25	2		2	TSHZ1	18	72999306	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	863	72999306	5077942	7455	31406											
ZNF516	9658	broad.mit.edu	37	chr18	74091371	74091371	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggccaggggcccctgtgtgGccgcgccatgtggctcctgg	17	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:74091371G>T	uc010dqx.1	-	3	2934	c.2699C>A	c.(2698-2700)GCC>GAC	p.A900D	ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	900					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCCCTGTGTGGCCGCGCCATG	0.706													T	74091371	G	T	74091371	3	4	27	1	0	0	0	0	1	0	0	0	17957	1203	42	5	809	5	ZNF516	18	74091371	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1092065	74091371	3985877	7456	31407											
ZNF516	9658	broad.mit.edu	37	chr18	74154214	74154214	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agccccggtgcttcttcatgTgcgccttcaggaaccaggtc	11	14	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:74154214T>A	uc010dqx.1	-	2	1032	c.797A>T	c.(796-798)CAC>CTC	p.H266L	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	266	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTTCTTCATGTGCGCCTTCAG	0.652													A	74154214	T	A	74154214	3	1	27	1	0	0	0	0	1	0	0	0	17957	1696	59	5	2715	5	ZNF516	18	74154214	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	62843	74154214	3923034	7457	31408											
ZNF516	9658	broad.mit.edu	37	chr18	74154911	74154911	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgcagatgcagcaggtgtGgcaggtagccttgtccccat	14	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:74154911G>T	uc010dqx.1	-	2	335	c.100C>A	c.(100-102)CAC>AAC	p.H34N	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	34	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CAGCAGGTGTGGCAGGTAGCC	0.652													T	74154911	G	T	74154911	3	4	27	1	0	0	0	0	1	0	0	0	17957	1348	47	5	3412	5	ZNF516	18	74154911	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	697	74154911	3922337	7458	31409											
ZNF236	7776	broad.mit.edu	37	chr18	74583682	74583682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtacaaggtcttataacCggaatatcgacagaagtgga	10	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:74583682C>T	uc002lmi.2	+	5	760	c.562C>T	c.(562-564)CGG>TGG	p.R188W	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.R188W	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	188					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GTCTTATAACCGGAATATCGA	0.418													T	74583682	C	T	74583682	3	4	27	1	0	0	0	0	1	0	0	0	17786	643	23	1	580	1	ZNF236	18	74583682	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	428771	74583682	3493566	7459	31410											
ZNF236	7776	broad.mit.edu	37	chr18	74635026	74635026	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taattaatgctttttggataGgcatgttcgaatccatactg	8	6	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:74635026G>T	uc002lmi.2	+	21	3750	c.3552_splice	c.e21-1	p.R1184_splice	ZNF236_uc002lmj.2_Splice_Site	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236						cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TTTTTGGATAGGCATGTTCGA	0.318													T	74635026	G	T	74635026	5	4	27	1	0	0	0	0	0	0	1	0	17786	1014	35	5	3633	5	ZNF236	18	74635026	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	51344	74635026	3442222	7460	31411											
MBP	4155	broad.mit.edu	37	chr18	74729219	74729219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgttctggttcgcatctgCctctcctgcaaacaacaatg	7	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:74729219C>T	uc010xfd.1	-	4	409	c.145G>A	c.(145-147)GCA>ACA	p.A49T	MBP_uc002lml.2_5'Flank|MBP_uc002lmn.2_5'Flank|MBP_uc002lmp.2_5'Flank|MBP_uc010xfe.1_5'UTR|MBP_uc002lmr.2_Missense_Mutation_p.A49T	NM_001025101	NP_001020272	P02686	MBP_HUMAN	Golli-mbp isoform 1	49					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			haematopoietic_and_lymphoid_tissue(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		TTCGCATCTGCCTCTCCTGCA	0.562													T	74729219	C	T	74729219	3	4	27	1	0	0	0	0	1	0	0	0	9359	739	26	2	893	2	MBP	18	74729219	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	94193	74729219	3348029	7461	31412											
ATP9B	374868	broad.mit.edu	37	chr18	77067105	77067105	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgaagccgtgaaagccatCgtgctgtgtcacaacgtgac	11	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:77067105C>T	uc002lmx.2	+	15	1658	c.1644C>T	c.(1642-1644)ATC>ATT	p.I548I	ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Silent_p.I548I|ATP9B_uc002lmz.1_Silent_p.I242I	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	548	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TGAAAGCCATCGTGCTGTGTC	0.498													T	77067105	C	T	77067105	2	4	27	1	0	0	0	0	0	0	0	1	1199	874	31	1		1	ATP9B	18	77067105	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2337886	77067105	1010143	7462	31413											
ATP9B	374868	broad.mit.edu	37	chr18	77089273	77089273	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agctgtttcccttcacctccGagagcaagcggatgggcgtc	12	13	1	1	rs35782512	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:77089273G>T	uc002lmx.2	+	16	1920	c.1906G>T	c.(1906-1908)GAG>TAG	p.E636*	ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Nonsense_Mutation_p.E636*|ATP9B_uc002lmz.1_Nonsense_Mutation_p.E330*	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	636	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CTTCACCTCCGAGAGCAAGCG	0.572													T	77089273	G	T	77089273	4	4	27	1	0	0	0	0	0	1	0	0	1199	1059	37	5	1968	5	ATP9B	18	77089273	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	22168	77089273	987975	7463	31414											
NFATC1	4772	broad.mit.edu	37	chr18	77170667	77170667	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttgggcctgtaccacaAcaataaccagtttttccacg	8	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:77170667A>G	uc010xfg.1	+	2	845	c.392A>G	c.(391-393)AAC>AGC	p.N131S	NFATC1_uc002lnc.1_Missense_Mutation_p.N131S|NFATC1_uc010xff.1_Missense_Mutation_p.N131S|NFATC1_uc002lnd.2_Missense_Mutation_p.N131S|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.N131S|NFATC1_uc010xfi.1_Missense_Mutation_p.N118S|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.N118S|NFATC1_uc002lng.2_Missense_Mutation_p.N118S|NFATC1_uc010xfk.1_Missense_Mutation_p.N118S	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	131	Trans-activation domain A (TAD-A).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CTGTACCACAACAATAACCAG	0.627													G	77170667	A	G	77170667	3	3	27	1	0	0	0	0	1	0	0	0	10361	43	2	3	490	3	NFATC1	18	77170667	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	81394	77170667	906581	7464	31415											
NFATC1	4772	broad.mit.edu	37	chr18	77208854	77208854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcggacgaccgcctgctgCgcccgcacgccttctaccag	12	19	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:77208854C>T	uc010xfg.1	+	4	1912	c.1459C>T	c.(1459-1461)CGC>TGC	p.R487C	NFATC1_uc002lnc.1_Missense_Mutation_p.R487C|NFATC1_uc010xff.1_Missense_Mutation_p.R487C|NFATC1_uc002lnd.2_Missense_Mutation_p.R487C|NFATC1_uc002lne.2_Missense_Mutation_p.R15C|NFATC1_uc010xfh.1_Missense_Mutation_p.R487C|NFATC1_uc010xfi.1_Missense_Mutation_p.R474C|NFATC1_uc010xfj.1_Missense_Mutation_p.R15C|NFATC1_uc002lnf.2_Missense_Mutation_p.R474C|NFATC1_uc002lng.2_Missense_Mutation_p.R474C|NFATC1_uc010xfk.1_Missense_Mutation_p.R474C	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	487	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCGCCTGCTGCGCCCGCACGC	0.607													T	77208854	C	T	77208854	3	4	27	1	0	0	0	0	1	0	0	0	10361	768	27	1	1565	1	NFATC1	18	77208854	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	38187	77208854	868394	7465	31416											
KCNG2	26251	broad.mit.edu	37	chr18	77659249	77659249	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcccgggcgggaccaaGctcctggagcgcgcggggct	19	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:77659249G>T	uc010xfl.1	+	2	834	c.834G>T	c.(832-834)AAG>AAT	p.K278N		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	278					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GCGGGACCAAGCTCCTGGAGC	0.716													T	77659249	G	T	77659249	3	4	27	1	0	0	0	0	1	0	0	0	8028	962	34	5	840	5	KCNG2	18	77659249	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	450395	77659249	417999	7466	31417											
ADNP2	22850	broad.mit.edu	37	chr18	77894427	77894427	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgcccttgagtcagccAgtcggacctgtcaataagtc	11	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:77894427A>G	uc002lnw.2	+	4	1586	c.1131A>G	c.(1129-1131)CCA>CCG	p.P377P		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	377	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TGAGTCAGCCAGTCGGACCTG	0.557													G	77894427	A	G	77894427	2	3	27	1	0	0	0	0	0	0	0	1	324	175	7	3		3	ADNP2	18	77894427	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	235178	77894427	182821	7467	31418											
ADNP2	22850	broad.mit.edu	37	chr18	77894960	77894960	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtgtcgggagttcttcCtgtgggccagccagtgaggc	16	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:77894960C>A	uc002lnw.2	+	4	2119	c.1664C>A	c.(1663-1665)CCT>CAT	p.P555H		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	555					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GGAGTTCTTCCTGTGGGCCAG	0.562													A	77894960	C	A	77894960	3	1	27	1	0	0	0	0	1	0	0	0	324	681	24	5	1674	5	ADNP2	18	77894960	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	533	77894960	182288	7468	31419											
ADNP2	22850	broad.mit.edu	37	chr18	77895701	77895701	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaagttgcctatggAttatagcaacagaggttttc	11	5	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr18:77895701A>T	uc002lnw.2	+	4	2860	c.2405A>T	c.(2404-2406)GAT>GTT	p.D802V		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	802					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TTGCCTATGGATTATAGCAAC	0.473													T	77895701	A	T	77895701	3	4	27	1	0	0	0	0	1	0	0	0	324	333	12	5	2415	5	ADNP2	18	77895701	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	741	77895701	181547	7469	31420											
PALM	5064	broad.mit.edu	37	chr19	746583	746583	+	Missense_Mutation	SNP	G	G	T													taccagaacgtggaggatgaGgccgagaccaagaaggtgct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:746583G>T	uc002lpm.1	+	9	1127	c.933G>T	c.(931-933)GAG>GAT	p.E311D	PALM_uc002lpn.1_Missense_Mutation_p.E267D|PALM_uc010xfu.1_Missense_Mutation_p.E176D	NM_002579	NP_002570	O75781	PALM_HUMAN	paralemmin isoform 1	311					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane					0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		TGGAGGATGAGGCCGAGACCA	0.652													T	746583	G	T	746583	3	4	27	1	0	0	0	0	1	0	0	0	11408	991	35	5	967	5	PALM	19	746583	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08		746583	58382400	7470	31421	105	2									
PALM	5064	broad.mit.edu	37	chr19	746586	746586	+	Silent	SNP	C	C	A													cagaacgtggaggatgaggcCgagaccaagaaggtgctggg					rs142619819		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:746586C>A	uc002lpm.1	+	9	1130	c.936C>A	c.(934-936)GCC>GCA	p.A312A	PALM_uc002lpn.1_Silent_p.A268A|PALM_uc010xfu.1_Silent_p.A177A	NM_002579	NP_002570	O75781	PALM_HUMAN	paralemmin isoform 1	312					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane					0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		AGGATGAGGCCGAGACCAAGA	0.652													A	746586	C	A	746586	2	1	27	1	0	0	0	0	0	0	0	1	11408	639	23	5		5	PALM	19	746586	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3	746586	58382397	7471	31422	105	2									
C19orf21	126353	broad.mit.edu	37	chr19	758560	758560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcccctgcactgaggctGcagaagtcccagtcatctga	13	13	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:758560G>A	uc002lpo.2	+	2	1697	c.1614G>A	c.(1612-1614)CTG>CTA	p.L538L		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	hypothetical protein LOC126353	538										upper_aerodigestive_tract(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTGAGGCTGCAGAAGTCCC	0.657													A	758560	G	A	758560	2	1	27	1	0	0	0	0	0	0	0	1	1913	1306	46	2		2	C19orf21	19	758560	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	11974	758560	58370423	7472	31423											
ARID3A	1820	broad.mit.edu	37	chr19	971952	971952	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggcggcggcggcggcggcAgcagcagcaacgcaggcggc	21	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:971952A>G	uc002lql.2	+	9	1959	c.1669A>G	c.(1669-1671)AGC>GGC	p.S557G		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT- like)	557	Gly-rich.|Important for cytoplasmic localization (By similarity).					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		cggcggcggcagcagcagcAA	0.532													G	971952	A	G	971952	3	3	27	1	0	0	0	0	1	0	0	0	916	188	7	3	1699	3	ARID3A	19	971952	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	213392	971952	58157031	7473	31424											
POLR2E	5434	broad.mit.edu	37	chr19	1094045	1094045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtctggtcaagctcgtcCtgggtcaccagatagccacg	13	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:1094045C>T	uc002lre.3	-	2	167	c.90G>A	c.(88-90)CAG>CAA	p.Q30Q	POLR2E_uc010xgf.1_Intron	NM_002695	NP_002686	P19388	RPAB1_HUMAN	DNA directed RNA polymerase II polypeptide E	30					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGCTCGTCCTGGGTCACCA	0.652													T	1094045	C	T	1094045	2	4	27	1	0	0	0	0	0	0	0	1	12218	680	24	4		4	POLR2E	19	1094045	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	122093	1094045	58034938	7474	31425											
C19orf26	255057	broad.mit.edu	37	chr19	1231118	1231118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgccgagagcagggggcGggctggccagaaaggggcgg	21	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:1231118G>A	uc002lrm.2	-	9	1393	c.1118C>T	c.(1117-1119)CCG>CTG	p.P373L		NM_152769	NP_689982	Q8N350	DOS_HUMAN	downstream of Stk11	399						integral to membrane					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAGGGGGCGGGCTGGCCAG	0.701										HNSCC(14;0.022)			A	1231118	G	A	1231118	3	1	27	1	0	0	0	0	1	0	0	0	1916	1116	39	1	229	1	C19orf26	19	1231118	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	137073	1231118	57897865	7475	31426											
APC2	10297	broad.mit.edu	37	chr19	1462161	1462161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtccagcctcgtcgccaCccgtgaggactacaggtcgg	13	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:1462161C>T	uc002lsr.1	+	14	2046	c.1838C>T	c.(1837-1839)ACC>ATC	p.T613I	APC2_uc002lss.1_Missense_Mutation_p.T195I|APC2_uc002lst.1_Missense_Mutation_p.T613I|APC2_uc002lsu.1_Missense_Mutation_p.T612I|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	613					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCGTCGCCACCCGTGAGGAC	0.677													T	1462161	C	T	1462161	3	4	27	1	0	0	0	0	1	0	0	0	764	507	18	4	1888	4	APC2	19	1462161	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	231043	1462161	57666822	7476	31427											
MBD3	53615	broad.mit.edu	37	chr19	1578436	1578436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggccttgtccagcggcGcctccccgtcacgggccagc	13	19	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:1578436G>A	uc002ltl.1	-	6	801	c.779C>T	c.(778-780)GCG>GTG	p.A260V	uc002lti.1_5'Flank|MBD3_uc002ltj.2_Missense_Mutation_p.A260V|MBD3_uc002ltk.2_Missense_Mutation_p.A228V	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	260					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCAGCGGCGCCTCCCCGTC	0.557													A	1578436	G	A	1578436	3	1	27	1	0	0	0	0	1	0	0	0	9344	1087	38	1	100	1	MBD3	19	1578436	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	116275	1578436	57550547	7477	31428											
MBD3	53615	broad.mit.edu	37	chr19	1585094	1585094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagcgcacgcgctggcggCtcttgttcatcttgctcatc	11	14	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:1585094C>T	uc002ltl.1	-	2	252	c.230G>A	c.(229-231)AGC>AAC	p.S77N	MBD3_uc002ltj.2_Missense_Mutation_p.S77N|MBD3_uc002ltk.2_Missense_Mutation_p.S45N	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	77					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCTGGCGGCTCTTGTTCAT	0.672													T	1585094	C	T	1585094	3	4	27	1	0	0	0	0	1	0	0	0	9344	797	28	2	665	2	MBD3	19	1585094	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6658	1585094	57543889	7478	31429											
ATP8B3	148229	broad.mit.edu	37	chr19	1795914	1795914	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaattccattgcccccctcCtgtgcaagcgttcgaagatg	8	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:1795914C>A	uc002ltw.2	-	18	2249	c.2015G>T	c.(2014-2016)AGG>ATG	p.R672M	ATP8B3_uc002ltv.2_Missense_Mutation_p.R625M|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	672	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCCCCTCCTGTGCAAGCG	0.512											OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	1795914	C	A	1795914	3	1	27	1	0	0	0	0	1	0	0	0	1196	681	24	5	1965	5	ATP8B3	19	1795914	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	210820	1795914	57333069	7479	31430											
REXO1	57455	broad.mit.edu	37	chr19	1827534	1827534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgggggctgctggcctgCgggcccttcttgtccgcacg	16	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:1827534C>T	uc002lua.3	-	2	1349	c.1254G>A	c.(1252-1254)CCG>CCA	p.P418P	REXO1_uc010dsr.1_Silent_p.P372P	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	418						nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGGCCTGCGGGCCCTTCT	0.687													T	1827534	C	T	1827534	2	4	27	1	0	0	0	0	0	0	0	1	13241	755	27	1		1	REXO1	19	1827534	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	31620	1827534	57301449	7480	31431											
REXO1	57455	broad.mit.edu	37	chr19	1827735	1827735	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcgggcttggctgggggCggctggaggtcccccacgtc	20	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:1827735C>T	uc002lua.3	-	2	1148	c.1053G>A	c.(1051-1053)CCG>CCA	p.P351P	REXO1_uc010dsr.1_Silent_p.P305P	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	351						nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCTGGGGGCGGCTGGAGGT	0.706													T	1827735	C	T	1827735	2	4	27	1	0	0	0	0	0	0	0	1	13241	755	27	1		1	REXO1	19	1827735	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	201	1827735	57301248	7481	31432											
AP3D1	8943	broad.mit.edu	37	chr19	2102260	2102260	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccgtcgactgagacagagTtctcaccctgtgtaaggaaa	10	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:2102260T>C	uc002luz.2	-	30	3597	c.3374A>G	c.(3373-3375)AAC>AGC	p.N1125S	AP3D1_uc010dsv.2_Missense_Mutation_p.N215S|AP3D1_uc002luy.2_Missense_Mutation_p.N1084S|AP3D1_uc002lva.2_Missense_Mutation_p.N1187S	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	1125					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGACAGAGTTCTCACCCTG	0.373													C	2102260	T	C	2102260	3	2	27	1	0	0	0	0	1	0	0	0	746	1725	60	3	91	3	AP3D1	19	2102260	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	274525	2102260	57026723	7482	31433											
AP3D1	8943	broad.mit.edu	37	chr19	2129320	2129320	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgggcagtacttgccagCttgatgatcttgatgaggac	12	10	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:2129320C>T	uc002luz.2	-	7	952	c.729G>A	c.(727-729)AAG>AAA	p.K243K	AP3D1_uc002luy.2_Intron|AP3D1_uc002lva.2_Silent_p.K243K	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	243					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACTTGCCAGCTTGATGATCT	0.602													T	2129320	C	T	2129320	2	4	27	1	0	0	0	0	0	0	0	1	746	796	28	2		2	AP3D1	19	2129320	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	27060	2129320	56999663	7483	31434											
AP3D1	8943	broad.mit.edu	37	chr19	2129360	2129360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagttgttggtggaggacGtcatcagcttgaaaaagagc	13	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:2129360G>A	uc002luz.2	-	7	912	c.689C>T	c.(688-690)ACG>ATG	p.T230M	AP3D1_uc002luy.2_Intron|AP3D1_uc002lva.2_Missense_Mutation_p.T230M	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	230					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGGAGGACGTCATCAGCTT	0.582													A	2129360	G	A	2129360	3	1	27	1	0	0	0	0	1	0	0	0	746	1145	40	1	3026	1	AP3D1	19	2129360	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	40	2129360	56999623	7484	31435											
DOT1L	84444	broad.mit.edu	37	chr19	2202760	2202760	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaccagctgaaggagcggTttgcaaacatgaaggaaggt	13	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:2202760T>C	uc002lvb.3	+	9	805	c.769T>C	c.(769-771)TTT>CTT	p.F257L		NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	257						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGGAGCGGTTTGCAAACAT	0.532													C	2202760	T	C	2202760	3	2	27	1	0	0	0	0	1	0	0	0	4709	1725	60	3	803	3	DOT1L	19	2202760	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	73400	2202760	56926223	7485	31436											
TMPRSS9	360200	broad.mit.edu	37	chr19	2405436	2405436	+	Frame_Shift_Del	DEL	G	G	-													ggcggcatggaagcatccccGggggagtttccgtggcaagc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:2405435_2405435CG>C	uc010xgx.2	+	5	632	c.632_632CG>C	c.(631-633)ccgfs	p.P211fs	TMPRSS9_uc002lvv.1_Frame_Shift_Del_p.P245fs	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	211	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	p.P211L(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGCATCCCCGGGGGAGTTT	0.632													-	2405436	G	-	2405436	7	5	27	1	0	1	0	1	0	0	0	0	16250	1103	39	0	655	0	TMPRSS9	19	2405436	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	202676	2405436	56723547	7486	31437											
LMNB2	84823	broad.mit.edu	37	chr19	2435063	2435063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgctcgtcgtgctggctcCgcagctcctccagcgcctgt	11	17	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:2435063C>T	uc002lvy.2	-	5	818	c.731G>A	c.(730-732)CGG>CAG	p.R244Q	LMNB2_uc002lwa.1_Missense_Mutation_p.R264Q	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	244	Rod.|Coil 2.					nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCTGGCTCCGCAGCTCCTC	0.567													T	2435063	C	T	2435063	3	4	27	1	0	0	0	0	1	0	0	0	8850	652	23	1	1103	1	LMNB2	19	2435063	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	29627	2435063	56693920	7487	31438											
GNG7	2788	broad.mit.edu	37	chr19	2515092	2515092	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actccgaccagcagggggtcGttccgggcatgttgctcaca	13	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:2515092G>T	uc002lwd.2	-	5	372	c.135C>A	c.(133-135)AAC>AAA	p.N45K	GNG7_uc010dte.1_Intron	NM_052847	NP_443079	O60262	GBG7_HUMAN	guanine nucleotide binding protein (G protein),	45					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGGGGTCGTTCCGGGCAT	0.408													T	2515092	G	T	2515092	3	4	27	1	0	0	0	0	1	0	0	0	6531	1136	40	5	75	5	GNG7	19	2515092	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	80029	2515092	56613891	7488	31439											
THOP1	7064	broad.mit.edu	37	chr19	2807650	2807650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccccgtgcaggtggtcaCgcacgggctgctgggcatct	14	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:2807650C>T	uc002lwj.2	+	8	1252	c.1097C>T	c.(1096-1098)ACG>ATG	p.T366M	THOP1_uc010xgz.1_Missense_Mutation_p.T245M|THOP1_uc002lwk.2_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	366					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGTGGTCACGCACGGGCTG	0.652													T	2807650	C	T	2807650	3	4	27	1	0	0	0	0	1	0	0	0	15868	536	19	1	1127	1	THOP1	19	2807650	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	292558	2807650	56321333	7489	31440											
THOP1	7064	broad.mit.edu	37	chr19	2807711	2807711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttccaccacgaggagggCgccagtgcctggcatgagga	15	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:2807711C>T	uc002lwj.2	+	8	1313	c.1158C>T	c.(1156-1158)GGC>GGT	p.G386G	THOP1_uc010xgz.1_Silent_p.G265G|THOP1_uc002lwk.2_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	386					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGAGGAGGGCGCCAGTGCCT	0.677													T	2807711	C	T	2807711	2	4	27	1	0	0	0	0	0	0	0	1	15868	755	27	1		1	THOP1	19	2807711	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	61	2807711	56321272	7490	31441											
THOP1	7064	broad.mit.edu	37	chr19	2807736	2807736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcctggcatgaggacgtgCggctctacaccgcgagggac	16	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:2807736C>T	uc002lwj.2	+	8	1338	c.1183C>T	c.(1183-1185)CGG>TGG	p.R395W	THOP1_uc010xgz.1_Missense_Mutation_p.R274W|THOP1_uc002lwk.2_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	395					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGGACGTGCGGCTCTACAC	0.721													T	2807736	C	T	2807736	3	4	27	1	0	0	0	0	1	0	0	0	15868	759	27	1	1213	1	THOP1	19	2807736	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	25	2807736	56321247	7491	31442											
TLE2	7089	broad.mit.edu	37	chr19	3005923	3005923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccacgatcagactccggCcatccggcagcaacttgcag	10	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:3005923C>T	uc002lww.2	-	16	1807	c.1544G>A	c.(1543-1545)GGC>GAC	p.G515D	TLE2_uc010xhb.1_Missense_Mutation_p.G182D|TLE2_uc010dth.2_Missense_Mutation_p.G516D|TLE2_uc010xhc.1_Missense_Mutation_p.G393D|TLE2_uc010dti.2_Missense_Mutation_p.G529D	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	515	WD 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGACTCCGGCCATCCGGCAG	0.637													T	3005923	C	T	3005923	3	4	27	1	0	0	0	0	1	0	0	0	15936	739	26	2	707	2	TLE2	19	3005923	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	198187	3005923	56123060	7492	31443											
TLE2	7089	broad.mit.edu	37	chr19	3028804	3028805	+	Splice_Site	INS	-	-	G													ccggactggagcggggtctgINSgggggggtgtgggggaaacg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:3028803_3028804T>TG	uc010dth.3	-	2	288	c.25_splice	c.e2-1	p.T9_splice	TLE2_uc002lww.3_Splice_Site_p.T9_splice|TLE2_uc010xhc.2_Splice_Site|TLE2_uc010dti.3_Splice_Site_p.T22_splice|TLE2_uc010xhd.1_Splice_Site_p.T9_splice	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	9	Gln-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCGGGGTCTGGGGGGGGTGT	0.624													G	3028805	-	G	3028804	8	5	27	1	0	1	1	0	0	0	1	0	15936	1363	47	0		0	TLE2	19	3028804	Splice_Site	INS	-	TCGA-BR-6452-01A-12D-1800-08	22881	3028804	56100179	7493	31444											
GNA11	2767	broad.mit.edu	37	chr19	3121099	3121099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacgtgtgccaccgacacGgagaacatccgcttcgtgtt	10	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:3121099G>A	uc002lxd.2	+	7	1244	c.1002G>A	c.(1000-1002)ACG>ACA	p.T334T	uc010xhe.1_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein),	334					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			eye(70)|skin(16)	86		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CCACCGACACGGAGAACATCC	0.607			Mis		uveal melanoma								A	3121099	G	A	3121099	2	1	27	1	0	0	0	0	0	0	0	1	6499	1103	39	1		1	GNA11	19	3121099	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	92295	3121099	56007884	7494	31445											
GNA15	2769	broad.mit.edu	37	chr19	3150136	3150136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccctccccagcaccacgCtagcctggtcatgagccagg	9	19	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:3150136C>T	uc002lxf.2	+	3	596	c.338C>T	c.(337-339)GCT>GTT	p.A113V	GNA15_uc010xhf.1_Missense_Mutation_p.A113V	NM_002068	NP_002059	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein),	113					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			skin(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CAGCACCACGCTAGCCTGGTC	0.647													T	3150136	C	T	3150136	3	4	27	1	0	0	0	0	1	0	0	0	6503	797	28	2	348	2	GNA15	19	3150136	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	29037	3150136	55978847	7495	31446											
GNA15	2769	broad.mit.edu	37	chr19	3155864	3155864	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtcagagcgtaagaaatggAtccattgtttcgagaacgtg	12	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:3155864A>T	uc002lxf.2	+	5	916	c.658A>T	c.(658-660)ATC>TTC	p.I220F		NM_002068	NP_002059	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein),	220					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			skin(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		TAAGAAATGGATCCATTGTTT	0.592													T	3155864	A	T	3155864	3	4	27	1	0	0	0	0	1	0	0	0	6503	333	12	5	676	5	GNA15	19	3155864	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	5728	3155864	55973119	7496	31447											
S1PR4	8698	broad.mit.edu	37	chr19	3179649	3179649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgggcccaggagtacctgCggggcatggactggatcctg	16	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:3179649C>T	uc002lxg.2	+	1	884	c.859C>T	c.(859-861)CGG>TGG	p.R287W		NM_003775	NP_003766	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4 precursor	287	Extracellular (By similarity).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			lung(1)|skin(1)	2						GGAGTACCTGCGGGGCATGGA	0.652													T	3179649	C	T	3179649	3	4	27	1	0	0	0	0	1	0	0	0	13796	759	27	1	861	1	S1PR4	19	3179649	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	23785	3179649	55949334	7497	31448											
CELF5	60680	broad.mit.edu	37	chr19	3281228	3281228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctggtggtcaagttcgCcgacacggacaaggagcgga	15	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:3281228C>T	uc002lxm.2	+	6	672	c.635C>T	c.(634-636)GCC>GTC	p.A212V	CELF5_uc002lxl.1_Missense_Mutation_p.A212V|CELF5_uc010dtj.1_Missense_Mutation_p.A212V|CELF5_uc010xhg.1_Missense_Mutation_p.A98V|CELF5_uc002lxn.2_RNA	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	bruno-like 5, RNA binding protein	212	RRM 2.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			ovary(2)	2						GTCAAGTTCGCCGACACGGAC	0.672													T	3281228	C	T	3281228	3	4	27	1	0	0	0	0	1	0	0	0	3219	739	26	2	657	2	CELF5	19	3281228	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	101579	3281228	55847755	7498	31449											
C19orf28	126321	broad.mit.edu	37	chr19	3551131	3551131	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcccactcgggcgtggcCgccccacagcccaggcaggg	15	18	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:3551131C>T	uc002lxz.2	-	2	530	c.360G>A	c.(358-360)GCG>GCA	p.A120A	C19orf28_uc002lxw.2_Silent_p.A120A|C19orf28_uc002lxx.2_Silent_p.A120A|C19orf28_uc002lxy.2_Silent_p.A111A	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform c	120					transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGCGTGGCCGCCCCACAGC	0.657													T	3551131	C	T	3551131	2	4	27	1	0	0	0	0	0	0	0	1	1917	639	23	1		1	C19orf28	19	3551131	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	269903	3551131	55577852	7499	31450											
C19orf29	58509	broad.mit.edu	37	chr19	3620185	3620185	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcccatgtcttgaagtgcTctgcctccttctcgcgctgc	8	17	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:3620185T>C	uc002lyh.2	-	4	877	c.824A>G	c.(823-825)GAG>GGG	p.E275G	C19orf29_uc010xho.1_5'Flank|C19orf29_uc010dtn.2_Missense_Mutation_p.E123G|C19orf29_uc002lyi.3_Missense_Mutation_p.E275G|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	275	Potential.					catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGAAGTGCTCTGCCTCCTT	0.662													C	3620185	T	C	3620185	3	2	27	1	0	0	0	0	1	0	0	0	1918	1551	54	3	1480	3	C19orf29	19	3620185	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	69054	3620185	55508798	7500	31451											
PIP5K1C	23396	broad.mit.edu	37	chr19	3656486	3656486	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaactcgtcgtcgctggTgacgtagaagagggagccac	15	9	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:3656486T>C	uc002lyj.1	-	6	595	c.538A>G	c.(538-540)ACC>GCC	p.T180A	PIP5K1C_uc010xhq.1_Missense_Mutation_p.T180A|PIP5K1C_uc010xhr.1_Missense_Mutation_p.T180A	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	180	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TCGTCGCTGGTGACGTAGAAG	0.632													C	3656486	T	C	3656486	3	2	27	1	0	0	0	0	1	0	0	0	11941	1696	59	3	1520	3	PIP5K1C	19	3656486	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	36301	3656486	55472497	7501	31452											
TJP3	27134	broad.mit.edu	37	chr19	3733891	3733891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctgctgtcagtgacagCgacagctcgccattggaggg	14	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:3733891C>T	uc010xhv.1	+	6	915	c.915C>T	c.(913-915)AGC>AGT	p.S305S	TJP3_uc010xhs.1_Silent_p.S286S|TJP3_uc010xht.1_Silent_p.S250S|TJP3_uc010xhu.1_Silent_p.S295S|TJP3_uc010xhw.1_Silent_p.S305S	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	286						tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGTGACAGCGACAGCTCGC	0.597													T	3733891	C	T	3733891	2	4	27	1	0	0	0	0	0	0	0	1	15928	767	27	1		1	TJP3	19	3733891	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	77405	3733891	55395092	7502	31453											
ZFR2	23217	broad.mit.edu	37	chr19	3834970	3834970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgggcaggggaagggtcGgaggctgggcgctagaacca	20	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:3834970G>A	uc002lyw.2	-	2	77	c.65C>T	c.(64-66)CCG>CTG	p.P22L	ZFR2_uc010xhx.1_RNA	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	22						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GGGAAGGGTCGGAGGCTGGGC	0.622													A	3834970	G	A	3834970	3	1	27	1	0	0	0	0	1	0	0	0	17657	1116	39	1	2826	1	ZFR2	19	3834970	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	101079	3834970	55294013	7503	31454											
PIAS4	51588	broad.mit.edu	37	chr19	4013158	4013158	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accccctgaccatgcactccAcctacgaccgggccggcgct	9	20	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:4013158A>G	uc002lzg.2	+	2	275	c.265A>G	c.(265-267)ACC>GCC	p.T89A		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	89					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGCACTCCACCTACGACCG	0.627													G	4013158	A	G	4013158	3	3	27	1	0	0	0	0	1	0	0	0	11878	159	6	3	271	3	PIAS4	19	4013158	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	178188	4013158	55115825	7504	31455											
MAP2K2	5605	broad.mit.edu	37	chr19	4099374	4099374	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcccatgctccagatgtcCgactgcaccgagtaatgtgt	11	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:4099374C>A	uc002lzk.2	-	7	998	c.744G>T	c.(742-744)TCG>TCT	p.S248S	MAP2K2_uc002lzj.2_Silent_p.S58S	NM_030662	NP_109587	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	248	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGATGTCCGACTGCACCG	0.672									Cardiofaciocutaneous_syndrome				A	4099374	C	A	4099374	2	1	27	1	0	0	0	0	0	0	0	1	9237	639	23	5		5	MAP2K2	19	4099374	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	86216	4099374	55029609	7505	31456											
ANKRD24	170961	broad.mit.edu	37	chr19	4216957	4216957	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggtcacagaaacaaaAcccacaggggctgaggtcag	12	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:4216957A>G	uc010dtt.1	+	18	2076	c.1800A>G	c.(1798-1800)AAA>AAG	p.K600K	ANKRD24_uc002lzs.2_Silent_p.K571K|ANKRD24_uc002lzt.2_Silent_p.K572K	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	600											0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CAGAAACAAAACCCACAGGGG	0.567													G	4216957	A	G	4216957	2	3	27	1	0	0	0	0	0	0	0	1	653	40	2	3		3	ANKRD24	19	4216957	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	117583	4216957	54912026	7506	31457											
EBI3	10148	broad.mit.edu	37	chr19	4234673	4234673	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccgtcagtcaagcccgAccctccagaaggcgtgcgcc	11	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:4234673A>G	uc002lzu.2	+	4	397	c.389A>G	c.(388-390)GAC>GGC	p.D130G		NM_005755	NP_005746	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3 precursor	130	Fibronectin type-III 2.				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCAAGCCCGACCCTCCAGAA	0.512													G	4234673	A	G	4234673	3	3	27	1	0	0	0	0	1	0	0	0	4883	275	10	3	403	3	EBI3	19	4234673	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	17716	4234673	54894310	7507	31458											
SH3GL1	6455	broad.mit.edu	37	chr19	4365591	4365591	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggccccggatcttggacacCgtgttgagcatggtcagctt	13	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:4365591C>A	uc002maj.2	-	4	325	c.219G>T	c.(217-219)ACG>ACT	p.T73T	SH3GL1_uc002mak.2_Silent_p.T73T|SH3GL1_uc010xig.1_Intron	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	73	Required for dimerization upon membrane association (By similarity).|BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TCTTGGACACCGTGTTGAGCA	0.672			T	MLL	AL								A	4365591	C	A	4365591	2	1	27	1	0	0	0	0	0	0	0	1	14250	639	23	5		5	SH3GL1	19	4365591	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	130918	4365591	54763392	7508	31459											
HDGFRP2	84717	broad.mit.edu	37	chr19	4491791	4491791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagaagaaagcagcggtcCgggcgccacggaggggccct	17	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:4491791C>T	uc002mao.2	+	6	730	c.637C>T	c.(637-639)CGG>TGG	p.R213W	HDGFRP2_uc002map.2_Missense_Mutation_p.R213W|HDGFRP2_uc010dtz.1_RNA	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	hepatoma-derived growth factor-related protein 2	213	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding				0						AGCAGCGGTCCGGGCGCCACG	0.627													T	4491791	C	T	4491791	3	4	27	1	0	0	0	0	1	0	0	0	7020	643	23	1	659	1	HDGFRP2	19	4491791	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	126200	4491791	54637192	7509	31460											
PLIN4	729359	broad.mit.edu	37	chr19	4504480	4504480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcctacagctactgcccGccagcgggcaaggcgaaggg	15	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:4504480G>A	uc002mar.1	-	6	4065	c.4065C>T	c.(4063-4065)GGC>GGT	p.G1355G	PLIN4_uc010dub.1_Silent_p.G379G	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	1355						lipid particle|plasma membrane					0						GCTACTGCCCGCCAGCGGGCA	0.677													A	4504480	G	A	4504480	2	1	27	1	0	0	0	0	0	0	0	1	12092	1074	38	1		1	PLIN4	19	4504480	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	12689	4504480	54624503	7510	31461											
PLIN4	729359	broad.mit.edu	37	chr19	4511907	4511907	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccggtcagcacggtcttggCcgtgtctacacctgtctggg	14	13	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:4511907C>A	uc002mar.1	-	3	2023	c.2023G>T	c.(2023-2025)GCC>TCC	p.A675S	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	675	18.|27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane					0						ACGGTCTTGGCCGTGTCTACA	0.577													A	4511907	C	A	4511907	3	1	27	1	0	0	0	0	1	0	0	0	12092	739	26	5	2066	5	PLIN4	19	4511907	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	7427	4511907	54617076	7511	31462											
SEMA6B	10501	broad.mit.edu	37	chr19	4548328	4548328	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagacactgagcccagacgtCcctgaggtgctggcattggg	14	11	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:4548328C>T	uc010duc.1	-	12	1439	c.1401G>A	c.(1399-1401)GGG>GGA	p.G467G	SEMA6B_uc010dud.2_Silent_p.G467G|SEMA6B_uc010xih.1_Silent_p.G467G	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	467	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCAGACGTCCCTGAGGTGC	0.642													T	4548328	C	T	4548328	2	4	27	1	0	0	0	0	0	0	0	1	14040	842	30	4		4	SEMA6B	19	4548328	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	36421	4548328	54580655	7512	31463											
DPP9	91039	broad.mit.edu	37	chr19	4705902	4705902	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcatctgcttccaggacaGgagcagcagagcctctttcc	10	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:4705902G>T	uc002mba.2	-	5	652	c.394C>A	c.(394-396)CTG>ATG	p.L132M	DPP9_uc002mbb.2_Missense_Mutation_p.L132M|DPP9_uc002mbc.2_Missense_Mutation_p.L132M	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9	103					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		TTCCAGGACAGGAGCAGCAGA	0.567													T	4705902	G	T	4705902	3	4	27	1	0	0	0	0	1	0	0	0	4733	991	35	5	2356	5	DPP9	19	4705902	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	157574	4705902	54423081	7513	31464											
KDM4B	23030	broad.mit.edu	37	chr19	5040024	5040024	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctggccaacagcgagaagTacgcggggcgggcagggcgg	20	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:5040024T>C	uc002mbq.3	+	4	543	c.317_splice	c.e4+2	p.K106_splice	KDM4B_uc010xil.1_Splice_Site_p.K106_splice|KDM4B_uc010xim.1_Splice_Site_p.K106_splice	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						CAGCGAGAAGTACGCGGGGCG	0.692													C	5040024	T	C	5040024	5	2	27	1	0	0	0	0	0	0	1	0	8129	1652	57	3	325	3	KDM4B	19	5040024	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	334122	5040024	54088959	7514	31465											
PTPRS	5802	broad.mit.edu	37	chr19	5221144	5221144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaccgtctgctggaggcCgcccaggctgctgccgcgat	16	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:5221144C>T	uc002mbv.2	-	20	3556	c.3322G>A	c.(3322-3324)GGC>AGC	p.G1108S	PTPRS_uc002mbu.1_Missense_Mutation_p.G677S|PTPRS_uc010xin.1_Missense_Mutation_p.G677S|PTPRS_uc002mbw.2_Missense_Mutation_p.G1086S|PTPRS_uc002mbx.2_Missense_Mutation_p.G681S|PTPRS_uc002mby.2_Missense_Mutation_p.G677S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1108	Extracellular (Potential).|Fibronectin type-III 8.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TGCTGGAGGCCGCCCAGGCTG	0.607													T	5221144	C	T	5221144	3	4	27	1	0	0	0	0	1	0	0	0	12811	652	23	1	2600	1	PTPRS	19	5221144	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	181120	5221144	53907839	7515	31466											
PTPRS	5802	broad.mit.edu	37	chr19	5225736	5225736	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaggagggcgggttgcatAcctgctcccttggtcacaac	15	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:5225736A>G	uc002mbv.2	-	17	2728	c.2494_splice	c.e17+1	p.V832_splice	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Splice_Site_p.V810_splice|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,						cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CGGGTTGCATACCTGCTCCCT	0.632													G	5225736	A	G	5225736	5	3	27	1	0	0	0	0	0	0	1	0	12811	405	14	3	3438	3	PTPRS	19	5225736	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4592	5225736	53903247	7516	31467											
ZNRF4	148066	broad.mit.edu	37	chr19	5455652	5455652	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaccccggagatgcccaaaGgcctcatgcctgccgcctcc	10	18	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:5455652G>T	uc002mca.3	+	1	227	c.150G>T	c.(148-150)AAG>AAT	p.K50N		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	50	Extracellular (Potential).					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GATGCCCAAAGGCCTCATGCC	0.687													T	5455652	G	T	5455652	3	4	27	1	0	0	0	0	1	0	0	0	18211	991	35	5	152	5	ZNRF4	19	5455652	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	229916	5455652	53673331	7517	31468											
SAFB2	9667	broad.mit.edu	37	chr19	5592843	5592843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggccggggaaagtctgcacGatatcggtcctccattgcca	12	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:5592843G>A	uc002mcd.2	-	16	2475	c.2263C>T	c.(2263-2265)CGT>TGT	p.R755C		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	755	Arg-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		AAGTCTGCACGATATCGGTCC	0.502													A	5592843	G	A	5592843	3	1	27	1	0	0	0	0	1	0	0	0	13807	1058	37	1	622	1	SAFB2	19	5592843	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	137191	5592843	53536140	7518	31469											
RPL36	25873	broad.mit.edu	37	chr19	5691598	5691598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgagcaacgtactggCcgccatgaggaaagctgctg	15	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:5691598C>T	uc002mcv.2	+	4	353	c.284C>T	c.(283-285)GCC>GTC	p.A95V	RPL36_uc002mcw.2_Missense_Mutation_p.A95V	NM_033643	NP_378669	Q9Y3U8	RL36_HUMAN	ribosomal protein L36	95					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome				0						AACGTACTGGCCGCCATGAGG	0.637											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	5691598	C	T	5691598	3	4	27	1	0	0	0	0	1	0	0	0	13586	739	26	2	294	2	RPL36	19	5691598	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	98755	5691598	53437385	7519	31470											
LONP1	9361	broad.mit.edu	37	chr19	5714193	5714193	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggaaaaatcacacttaCctgtcatctctctttagaaa	5	9	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:5714193C>G	uc002mcx.2	-	2	551	c.518_splice	c.e2+1	p.S173_splice	LONP1_uc002mcy.2_Splice_Site_p.S109_splice|LONP1_uc010duh.2_Splice_Site|LONP1_uc010dui.2_Splice_Site_p.S173_splice|LONP1_uc002mcz.2_Splice_Site	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor						cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						ATCACACTTACCTGTCATCTC	0.478													G	5714193	C	G	5714193	5	3	27	1	0	0	0	0	0	0	1	0	8892	521	18	5	2428	5	LONP1	19	5714193	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	22595	5714193	53414790	7520	31471											
TMEM146	257062	broad.mit.edu	37	chr19	5744496	5744496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttctttgtcacaggttgCgatgcttgtagtgaatcaag	10	6	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:5744496C>T	uc002mda.2	+	8	693	c.632C>T	c.(631-633)GCG>GTG	p.A211V	TMEM146_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	211	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						TCACAGGTTGCGATGCTTGTA	0.408													T	5744496	C	T	5744496	3	4	27	1	0	0	0	0	1	0	0	0	16057	768	27	1	662	1	TMEM146	19	5744496	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	30303	5744496	53384487	7521	31472											
ACSBG2	81616	broad.mit.edu	37	chr19	6187702	6187702	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcagccaggcatccacCgtgactgagattgtgaagca	13	11	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:6187702C>T	uc002mef.1	+	13	2000	c.1773C>T	c.(1771-1773)ACC>ACT	p.T591T	ACSBG2_uc002mee.1_Silent_p.T404T|ACSBG2_uc002meg.1_Silent_p.T591T|ACSBG2_uc002meh.1_Silent_p.T591T|ACSBG2_uc002mei.1_Silent_p.T541T|ACSBG2_uc010xiz.1_Silent_p.T563T	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	bubblegum-related acyl-CoA synthetase 2	591					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			ovary(1)	1						AGGCATCCACCGTGACTGAGA	0.552													T	6187702	C	T	6187702	2	4	27	1	0	0	0	0	0	0	0	1	174	639	23	1		1	ACSBG2	19	6187702	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	443206	6187702	52941281	7522	31473											
KHSRP	8570	broad.mit.edu	37	chr19	6418522	6418522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaaggatccccaatgatgCggagaggtttgtccacattc	11	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:6418522C>T	uc002mer.3	-	9	961	c.851G>A	c.(850-852)CGC>CAC	p.R284H		NM_003685	NP_003676	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	284	Gly-rich.|KH 2.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			skin(1)	1						CCCAATGATGCGGAGAGGTTT	0.562													T	6418522	C	T	6418522	3	4	27	1	0	0	0	0	1	0	0	0	8151	768	27	1	1332	1	KHSRP	19	6418522	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	230820	6418522	52710461	7523	31474											
DENND1C	79958	broad.mit.edu	37	chr19	6475582	6475582	+	Frame_Shift_Del	DEL	T	T	-													accacgacgtcctccagggcTttttctcgtactctctgcgg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:6475581_6475581CT>C	uc002mfe.3	-	12	933	c.841_841AG>G	c.(841-843)gccfs	p.A281fs	DENND1C_uc002mfb.3_5'UTR|DENND1C_uc002mfc.3_5'UTR|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Frame_Shift_Del_p.A237fs	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	281	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						TCCTCCAGGGCTTTTTCTCGT	0.627													-	6475582	T	-	6475582	7	5	27	1	0	1	0	1	0	0	0	0	4428	1606	56	0	1609	0	DENND1C	19	6475582	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	57060	6475582	52653401	7524	31475											
DENND1C	79958	broad.mit.edu	37	chr19	6476977	6476977	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaccagctccgttaggttcCtctgaggatcagagagtcgc	11	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:6476977C>A	uc002mfe.2	-	10	661	c.569G>T	c.(568-570)AGG>ATG	p.R190M	DENND1C_uc002mfb.2_5'Flank|DENND1C_uc002mfc.2_5'Flank|DENND1C_uc002mfd.2_Translation_Start_Site|DENND1C_uc010xje.1_Missense_Mutation_p.R146M	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	190	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1						CGTTAGGTTCCTCTGAGGATC	0.647													A	6476977	C	A	6476977	3	1	27	1	0	0	0	0	1	0	0	0	4428	695	24	5	1892	5	DENND1C	19	6476977	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1395	6476977	52652006	7525	31476											
C3	718	broad.mit.edu	37	chr19	6697697	6697697	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgccggtaattgtagagaAcggctcggatttccacctgc	11	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:6697697A>C	uc002mfm.2	-	20	2611	c.2549T>G	c.(2548-2550)GTT>GGT	p.V850G		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	850					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ATTGTAGAGAACGGCTCGGAT	0.572													C	6697697	A	C	6697697	3	2	27	1	0	0	0	0	1	0	0	0	2204	43	2	5	2530	5	C3	19	6697697	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	220720	6697697	52431286	7526	31477											
C3	718	broad.mit.edu	37	chr19	6710735	6710735	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcaccgatcagcgtgtagTacgccaccaggcggaaggaa	14	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:6710735T>C	uc002mfm.2	-	13	1663	c.1601A>G	c.(1600-1602)TAC>TGC	p.Y534C		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	534					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CAGCGTGTAGTACGCCACCAG	0.667													C	6710735	T	C	6710735	3	2	27	1	0	0	0	0	1	0	0	0	2204	1638	57	3	3506	3	C3	19	6710735	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	13038	6710735	52418248	7527	31478											
TRIP10	9322	broad.mit.edu	37	chr19	6750304	6750304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtcccctcctcccaggCgtggctggcagaagctgaaa	11	15	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:6750304C>T	uc002mfs.2	+	13	1463	c.1397C>T	c.(1396-1398)GCG>GTG	p.A466V	TRIP10_uc010dux.1_Missense_Mutation_p.A410V|TRIP10_uc002mfr.2_Missense_Mutation_p.A410V|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Missense_Mutation_p.A229V	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	466	Interaction with CDC42.|Interaction with PDE6G (By similarity).|REM.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			ovary(1)	1						TCCTCCCAGGCGTGGCTGGCA	0.672													T	6750304	C	T	6750304	3	4	27	1	0	0	0	0	1	0	0	0	16551	782	27	1	1275	1	TRIP10	19	6750304	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	39569	6750304	52378679	7528	31479											
VAV1	7409	broad.mit.edu	37	chr19	6853059	6853059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagttccccttcaaggaGcctgaaaagagaaccatcag	9	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:6853059G>A	uc002mfu.1	+	25	2398	c.2301G>A	c.(2299-2301)GAG>GAA	p.E767E	VAV1_uc010xjh.1_Silent_p.E735E|VAV1_uc010dva.1_Silent_p.E745E|VAV1_uc002mfv.1_Silent_p.E712E	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	767					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						CCTTCAAGGAGCCTGAAAAGA	0.542													A	6853059	G	A	6853059	2	1	27	1	0	0	0	0	0	0	0	1	17128	962	34	2		2	VAV1	19	6853059	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	102755	6853059	52275924	7529	31480											
EMR1	2015	broad.mit.edu	37	chr19	6921803	6921803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatggacatcctttggctGtgtgatcctggaagcttctg	12	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:6921803G>A	uc002mfw.2	+	14	1738	c.1700G>A	c.(1699-1701)TGT>TAT	p.C567Y	EMR1_uc010dvc.2_Missense_Mutation_p.C567Y|EMR1_uc010dvb.2_Missense_Mutation_p.C515Y|EMR1_uc010xji.1_Missense_Mutation_p.C426Y|EMR1_uc010xjj.1_Missense_Mutation_p.C390Y	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	567	GPS.|Extracellular (Potential).|Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					TCCTTTGGCTGTGTGATCCTG	0.453													A	6921803	G	A	6921803	3	1	27	1	0	0	0	0	1	0	0	0	5104	1377	48	4	1754	4	EMR1	19	6921803	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	68744	6921803	52207180	7530	31481											
EMR1	2015	broad.mit.edu	37	chr19	6937571	6937571	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtacgagaagaatacaAgaggtggatcactgggaaga	14	6	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:6937571A>G	uc002mfw.2	+	20	2605	c.2567A>G	c.(2566-2568)AAG>AGG	p.K856R	EMR1_uc010dvc.2_Missense_Mutation_p.K791R|EMR1_uc010dvb.2_Missense_Mutation_p.K837R|EMR1_uc010xji.1_Missense_Mutation_p.K715R|EMR1_uc010xjj.1_Missense_Mutation_p.K679R	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	856	Cytoplasmic (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					GAAGAATACAAGAGGTGGATC	0.468													G	6937571	A	G	6937571	3	3	27	1	0	0	0	0	1	0	0	0	5104	72	3	3	2645	3	EMR1	19	6937571	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	15768	6937571	52191412	7531	31482											
EMR1	2015	broad.mit.edu	37	chr19	6937586	6937586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacaagaggtggatcactgGgaagacgaagcccagctccc	12	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:6937586G>A	uc002mfw.2	+	20	2620	c.2582G>A	c.(2581-2583)GGG>GAG	p.G861E	EMR1_uc010dvc.2_Missense_Mutation_p.G796E|EMR1_uc010dvb.2_Missense_Mutation_p.G842E|EMR1_uc010xji.1_Missense_Mutation_p.G720E|EMR1_uc010xjj.1_Missense_Mutation_p.G684E	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	861	Cytoplasmic (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					TGGATCACTGGGAAGACGAAG	0.512													A	6937586	G	A	6937586	3	1	27	1	0	0	0	0	1	0	0	0	5104	1232	43	4	2660	4	EMR1	19	6937586	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	15	6937586	52191397	7532	31483											
ZNF557	79230	broad.mit.edu	37	chr19	7082971	7082971	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcttcccttacacggcAcaggaagattcatactggag	8	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:7082971A>T	uc002mgb.2	+	8	973	c.488A>T	c.(487-489)CAC>CTC	p.H163L	ZNF557_uc002mga.2_Missense_Mutation_p.H170L|ZNF557_uc002mgc.2_Missense_Mutation_p.H170L	NM_001044388	NP_001037853	Q8N988	ZN557_HUMAN	zinc finger protein 557 isoform b	163	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2				Lung(535;0.179)		CTTACACGGCACAGGAAGATT	0.408													T	7082971	A	T	7082971	3	4	27	1	0	0	0	0	1	0	0	0	17985	159	6	5	531	5	ZNF557	19	7082971	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	145385	7082971	52046012	7533	31484											
INSR	3643	broad.mit.edu	37	chr19	7125510	7125510	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcgagacacctcccactcGtccggcacgtacacagagca	8	17	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:7125510G>A	uc002mgd.1	-	17	3151	c.3042C>T	c.(3040-3042)GAC>GAT	p.D1014D	INSR_uc002mge.1_Silent_p.D1002D	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	1014	Cytoplasmic (Potential).				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTCCCACTCGTCCGGCACGT	0.567													A	7125510	G	A	7125510	2	1	27	1	0	0	0	0	0	0	0	1	7773	1136	40	1		1	INSR	19	7125510	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	42539	7125510	52003473	7534	31485											
INSR	3643	broad.mit.edu	37	chr19	7125522	7125522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccactcgtccggcacgtaCacagagcatggaaacactac	8	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:7125522C>T	uc002mgd.1	-	17	3139	c.3030G>A	c.(3028-3030)GTG>GTA	p.V1010V	INSR_uc002mge.1_Silent_p.V998V	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	1010	Cytoplasmic (Potential).				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCGGCACGTACACAGAGCATG	0.577													T	7125522	C	T	7125522	2	4	27	1	0	0	0	0	0	0	0	1	7773	465	17	4		4	INSR	19	7125522	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	12	7125522	52003461	7535	31486											
INSR	3643	broad.mit.edu	37	chr19	7166350	7166350	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggggtgggtcaatgtctAccaccgtccaactgttggaa	12	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:7166350A>G	uc002mgd.1	-	8	1785	c.1676T>C	c.(1675-1677)GTA>GCA	p.V559A	INSR_uc002mge.1_Missense_Mutation_p.V559A|INSR_uc002mgf.2_Missense_Mutation_p.V559A	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	559					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTCAATGTCTACCACCGTCCA	0.547													G	7166350	A	G	7166350	3	3	27	1	0	0	0	0	1	0	0	0	7773	391	14	3	2532	3	INSR	19	7166350	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	40828	7166350	51962633	7536	31487											
ARHGEF18	23370	broad.mit.edu	37	chr19	7509264	7509264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgctcggctcaaggagcGccgccaggagtccctggagg	15	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:7509264G>A	uc002mgi.2	+	4	1224	c.971G>A	c.(970-972)CGC>CAC	p.R324H	ARHGEF18_uc010xjm.1_Missense_Mutation_p.R166H|ARHGEF18_uc002mgh.2_Missense_Mutation_p.R166H|ARHGEF18_uc002mgj.1_5'Flank	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	324	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				CTCAAGGAGCGCCGCCAGGAG	0.617													A	7509264	G	A	7509264	3	1	27	1	0	0	0	0	1	0	0	0	901	1087	38	1	985	1	ARHGEF18	19	7509264	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	342914	7509264	51619719	7537	31488											
C19orf45	374877	broad.mit.edu	37	chr19	7569089	7569089	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggccctgccaggcccAcctgccttgaggtgtaagag	12	14	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:7569089A>G	uc002mgm.2	+	3	801	c.660A>G	c.(658-660)CCA>CCG	p.P220P	C19orf45_uc010xjo.1_5'Flank	NM_198534	NP_940936	Q8NA69	CS045_HUMAN	hypothetical protein LOC374877	220											0						TGCCAGGCCCACCTGCCTTGA	0.597													G	7569089	A	G	7569089	2	3	27	1	0	0	0	0	0	0	0	1	1928	146	6	3		3	C19orf45	19	7569089	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	59825	7569089	51559894	7538	31489											
PNPLA6	10908	broad.mit.edu	37	chr19	7625995	7625995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctctgatggctgtgctgaCggtgaggggcccaggggacc	18	10	1	3	rs149871062	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:7625995C>T	uc010xjq.1	+	32	4137	c.3942C>T	c.(3940-3942)GAC>GAT	p.D1314D	PNPLA6_uc002mgq.1_Silent_p.D1266D|PNPLA6_uc010xjp.1_Silent_p.D1239D|PNPLA6_uc002mgr.1_Silent_p.D1266D|PNPLA6_uc002mgs.2_Silent_p.D1304D|PNPLA6_uc002mgt.1_RNA	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	1305	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						GCTGTGCTGACGGTGAGGGGC	0.637													T	7625995	C	T	7625995	2	4	27	1	0	0	0	0	0	0	0	1	12169	550	19	1		1	PNPLA6	19	7625995	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	56906	7625995	51502988	7539	31490											
XAB2	56949	broad.mit.edu	37	chr19	7692152	7692152	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaagcgccgatagcctcGcacagctgtctcaggcagtg	14	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:7692152G>A	uc002mgx.2	-	4	525	c.499C>T	c.(499-501)CGA>TGA	p.R167*	uc010dvi.1_5'Flank	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	167	HAT 5.				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						CGATAGCCTCGCACAGCTGTC	0.617								Direct_reversal_of_damage|NER					A	7692152	G	A	7692152	4	1	27	1	0	0	0	0	0	1	0	0	17415	1095	38	1	2132	1	XAB2	19	7692152	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	66157	7692152	51436831	7540	31491											
PCP2	126006	broad.mit.edu	37	chr19	7696662	7696662	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgagcaggggttggggActgagggtcccagctcgttt	20	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:7696662A>G	uc002mgz.2	-	4	551	c.324T>C	c.(322-324)AGT>AGC	p.S108S	XAB2_uc002mgx.2_5'Flank	NM_174895	NP_777555	Q8IVA1	PCP2_HUMAN	Purkinje cell protein 2	108					signal transduction		GTPase activator activity				0						GGGGTTGGGGACTGAGGGTCC	0.672													G	7696662	A	G	7696662	2	3	27	1	0	0	0	0	0	0	0	1	11597	272	10	3		3	PCP2	19	7696662	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4510	7696662	51432321	7541	31492											
CLEC4G	339390	broad.mit.edu	37	chr19	7794289	7794289	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcacagatccagccgtccTtctcgctgtcacacggtgcg	9	16	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:7794289T>G	uc002mhp.3	-	9	914	c.845A>C	c.(844-846)AAG>ACG	p.K282T		NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	282	Extracellular (Potential).|C-type lectin.					integral to membrane	protein binding|sugar binding				0						CCAGCCGTCCTTCTCGCTGTC	0.627													G	7794289	T	G	7794289	3	3	27	1	0	0	0	0	1	0	0	0	3517	1609	56	5	40	5	CLEC4G	19	7794289	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	97627	7794289	51334694	7542	31493											
EVI5L	115704	broad.mit.edu	37	chr19	7914150	7914150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcccttctaggcatactcGctggtagaccgggaggtggg	15	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:7914150G>A	uc002min.2	+	5	715	c.561G>A	c.(559-561)TCG>TCA	p.S187S	EVI5L_uc010xjz.1_Silent_p.S187S|EVI5L_uc002mio.1_5'Flank	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	187	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						AGGCATACTCGCTGGTAGACC	0.647													A	7914150	G	A	7914150	2	1	27	1	0	0	0	0	0	0	0	1	5290	1074	38	1		1	EVI5L	19	7914150	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	119861	7914150	51214833	7543	31494											
MAP2K7	5609	broad.mit.edu	37	chr19	7976042	7976042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctgtgccgcctacatgGcagtgagtgggggcccccca	15	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:7976042G>A	uc002mit.2	+	7	918	c.853G>A	c.(853-855)GCA>ACA	p.A285T	MAP2K7_uc002miv.2_Missense_Mutation_p.A285T|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.A285T|MAP2K7_uc010dvv.2_Missense_Mutation_p.A160T	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	285	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	CGCCTACATGGCAGTGAGTGG	0.721													A	7976042	G	A	7976042	3	1	27	1	0	0	0	0	1	0	0	0	9242	1203	42	2	879	2	MAP2K7	19	7976042	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	61892	7976042	51152941	7544	31495											
MAP2K7	5609	broad.mit.edu	37	chr19	7977189	7977189	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcgggcccacaggaacacaGcttcatcaagcgctacgaga	10	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:7977189G>T	uc002mit.2	+	11	1198	c.1133G>T	c.(1132-1134)AGC>ATC	p.S378I	MAP2K7_uc002miv.2_Missense_Mutation_p.S385I|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.S385I|MAP2K7_uc010dvv.2_Missense_Mutation_p.S253I	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	378	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	CAGGAACACAGCTTCATCAAG	0.657													T	7977189	G	T	7977189	3	4	27	1	0	0	0	0	1	0	0	0	9242	971	34	5	1175	5	MAP2K7	19	7977189	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1147	7977189	51151794	7545	31496											
SNAPC2	6618	broad.mit.edu	37	chr19	7987422	7987422	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagcatatgacggagacgTacctacgcctgacagccccc	10	14	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:7987422T>C	uc002miw.1	+	5	801	c.778T>C	c.(778-780)TAC>CAC	p.Y260H	SNAPC2_uc002mix.1_RNA	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex,	260					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity				0						GACGGAGACGTACCTACGCCT	0.642													C	7987422	T	C	7987422	3	2	27	1	0	0	0	0	1	0	0	0	14835	1638	57	3	796	3	SNAPC2	19	7987422	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	10233	7987422	51141561	7546	31497											
CCL25	6370	broad.mit.edu	37	chr19	8121288	8121288	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acacaggaaggtgtgtgggaAccccaaaagcagggaggtgc	16	8	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:8121288A>T	uc002mjd.2	+	3	230	c.230A>T	c.(229-231)AAC>ATC	p.N77I	CCL25_uc002mjc.3_Missense_Mutation_p.N77I|CCL25_uc010dvy.1_Intron	NM_005624	NP_005615	O15444	CCL25_HUMAN	small inducible cytokine A25 precursor	77					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity				0						GTGTGTGGGAACCCCAAAAGC	0.567													T	8121288	A	T	8121288	3	4	27	1	0	0	0	0	1	0	0	0	2897	43	2	5	240	5	CCL25	19	8121288	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	133866	8121288	51007695	7547	31498											
FBN3	84467	broad.mit.edu	37	chr19	8148196	8148196	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggcagcggaaggagccaAggctgttgatgcactcccca	14	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:8148196A>C	uc002mjf.2	-	56	7169	c.7148T>G	c.(7147-7149)CTT>CGT	p.L2383R	FBN3_uc002mje.2_Missense_Mutation_p.L222R	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2383	EGF-like 38; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GAAGGAGCCAAGGCTGTTGAT	0.597													C	8148196	A	C	8148196	3	2	27	1	0	0	0	0	1	0	0	0	5704	72	3	5	1313	5	FBN3	19	8148196	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	26908	8148196	50980787	7548	31499											
FBN3	84467	broad.mit.edu	37	chr19	8175763	8175763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccctcggtccagttcgtaGccaccattgcagatgcagcg	10	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:8175763G>A	uc002mjf.2	-	33	4320	c.4299C>T	c.(4297-4299)GGC>GGT	p.G1433G		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1433	EGF-like 22; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CCAGTTCGTAGCCACCATTGC	0.582													A	8175763	G	A	8175763	2	1	27	1	0	0	0	0	0	0	0	1	5704	958	34	2		2	FBN3	19	8175763	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	27567	8175763	50953220	7549	31500											
HNRNPM	4670	broad.mit.edu	37	chr19	8550638	8550638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatgggcctggtcatggaCcgcatgggctccgtggagcg	17	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:8550638C>T	uc010dwe.2	+	14	1406	c.1326C>T	c.(1324-1326)GAC>GAT	p.D442D	HNRNPM_uc010xke.1_Silent_p.D388D|HNRNPM_uc010dwd.2_Silent_p.D403D|HNRNPM_uc002mka.2_Silent_p.D307D|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	442	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].|6.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0						TGGTCATGGACCGCATGGGCT	0.711													T	8550638	C	T	8550638	2	4	27	1	0	0	0	0	0	0	0	1	7271	506	18	4		4	HNRNPM	19	8550638	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	374875	8550638	50578345	7550	31501											
PRAM1	84106	broad.mit.edu	37	chr19	8563997	8563997	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttagggaggccaccgaccTgaggctgcggaggctttttg	15	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:8563997T>C	uc002mkd.2	-	2	715	c.695A>G	c.(694-696)CAG>CGG	p.Q232R	PRAM1_uc002mkc.2_Missense_Mutation_p.Q232R	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	280	Pro-rich.						lipid binding|protein binding				0						GCCACCGACCTGAGGCTGCGG	0.637													C	8563997	T	C	8563997	3	2	27	1	0	0	0	0	1	0	0	0	12423	1580	55	3	1350	3	PRAM1	19	8563997	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	13359	8563997	50564986	7551	31502											
MYO1F	4542	broad.mit.edu	37	chr19	8595214	8595214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccgattgatgctgttgcGcctccgctccttcttgttca	9	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:8595214G>A	uc002mkg.2	-	21	2308	c.2194C>T	c.(2194-2196)CGC>TGC	p.R732C		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	732						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						ATGCTGTTGCGCCTCCGCTCC	0.637													A	8595214	G	A	8595214	3	1	27	1	0	0	0	0	1	0	0	0	10073	1087	38	1	1134	1	MYO1F	19	8595214	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	31217	8595214	50533769	7552	31503											
ADAMTS10	81794	broad.mit.edu	37	chr19	8661991	8661991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgtccagggacttcccgGcatggtgggtgatctccaga	14	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:8661991G>A	uc002mkj.1	-	8	1194	c.920C>T	c.(919-921)GCC>GTC	p.A307V	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	307	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						GGACTTCCCGGCATGGTGGGT	0.582													A	8661991	G	A	8661991	3	1	27	1	0	0	0	0	1	0	0	0	256	1203	42	2	2467	2	ADAMTS10	19	8661991	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	66777	8661991	50466992	7553	31504											
MBD3L1	85509	broad.mit.edu	37	chr19	8953661	8953661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtccctagttacacaggtGgatctctgctggaggatctt	11	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:8953661G>A	uc002mko.2	+	1	393	c.307G>A	c.(307-309)GGA>AGA	p.G103R		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like	103	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						TTACACAGGTGGATCTCTGCT	0.537													A	8953661	G	A	8953661	3	1	27	1	0	0	0	0	1	0	0	0	9345	1349	47	4	309	4	MBD3L1	19	8953661	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	291670	8953661	50175322	7554	31505											
MUC16	94025	broad.mit.edu	37	chr19	8973596	8973596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgtcatgtagttgactGcctttgtagagtgtggtgac	13	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:8973596G>A	uc002mkp.2	-	77	42924	c.42720C>T	c.(42718-42720)GGC>GGT	p.G14240G	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.G1040G|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTAGTTGACTGCCTTTGTAGA	0.443													A	8973596	G	A	8973596	2	1	27	1	0	0	0	0	0	0	0	1	9973	1306	46	2		2	MUC16	19	8973596	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	19935	8973596	50155387	7555	31506											
MUC16	94025	broad.mit.edu	37	chr19	9003630	9003630	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggcgacgcatgtcctccTcatactgcaggttagtgatg	12	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:9003630T>G	uc002mkp.2	-	49	40214	c.40010A>C	c.(40009-40011)GAG>GCG	p.E13337A	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.E154A|MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13339	Extracellular (Potential).|SEA 9.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CATGTCCTCCTCATACTGCAG	0.532													G	9003630	T	G	9003630	3	3	27	1	0	0	0	0	1	0	0	0	9973	1551	54	5	3657	5	MUC16	19	9003630	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	30034	9003630	50125353	7556	31507											
MUC16	94025	broad.mit.edu	37	chr19	9008180	9008180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagccactcaccattgacGtagagactgttccggtccag	9	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:9008180G>A	uc002mkp.2	-	41	39576	c.39372C>T	c.(39370-39372)TAC>TAT	p.Y13124Y	MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13126	Extracellular (Potential).|SEA 7.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CACCATTGACGTAGAGACTGT	0.547													A	9008180	G	A	9008180	2	1	27	1	0	0	0	0	0	0	0	1	9973	1140	40	1		1	MUC16	19	9008180	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4550	9008180	50120803	7557	31508											
MUC16	94025	broad.mit.edu	37	chr19	9014204	9014204	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaggtctgatgggtgaaaCctgcgtagagaaggagggag	18	5	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:9014204C>A	uc002mkp.2	-	32	38648	c.38444G>T	c.(38443-38445)GGT>GTT	p.G12815V	MUC16_uc010xki.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12817	Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ATGGGTGAAACCTGCGTAGAG	0.517													A	9014204	C	A	9014204	3	1	27	1	0	0	0	0	1	0	0	0	9973	521	18	5	5291	5	MUC16	19	9014204	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6024	9014204	50114779	7558	31509											
MUC16	94025	broad.mit.edu	37	chr19	9019996	9019996	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcaccattgacatagAgactgttcctgtccagggtg	11	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:9019996A>T	uc002mkp.2	-	21	37703	c.37499T>A	c.(37498-37500)CTC>CAC	p.L12500H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12502	Extracellular (Potential).|SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ATTGACATAGAGACTGTTCCT	0.522													T	9019996	A	T	9019996	3	4	27	1	0	0	0	0	1	0	0	0	9973	304	11	5	6280	5	MUC16	19	9019996	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	5792	9019996	50108987	7559	31510											
MUC16	94025	broad.mit.edu	37	chr19	9024831	9024831	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcacagccactcaccattgAcatagagactgttcctgtcc	6	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:9024831A>T	uc002mkp.2	-	16	37235	c.37031T>A	c.(37030-37032)GTC>GAC	p.V12344D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12346	Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTCACCATTGACATAGAGACT	0.517													T	9024831	A	T	9024831	3	4	27	1	0	0	0	0	1	0	0	0	9973	275	10	5	6768	5	MUC16	19	9024831	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4835	9024831	50104152	7560	31511											
MUC16	94025	broad.mit.edu	37	chr19	9046516	9046516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactatgggaaaaactggaGgttgttctggaaacaggtgt	13	5	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:9046516G>A	uc002mkp.2	-	5	35319	c.35115C>T	c.(35113-35115)ACC>ACT	p.T11705T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11707	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AAAAACTGGAGGTTGTTCTGG	0.507													A	9046516	G	A	9046516	2	1	27	1	0	0	0	0	0	0	0	1	9973	987	35	4		4	MUC16	19	9046516	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	21685	9046516	50082467	7561	31512											
MUC16	94025	broad.mit.edu	37	chr19	9047431	9047431	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaggttaccatatctggTacatcaggtgagacagttat	11	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:9047431T>A	uc002mkp.2	-	5	34404	c.34200A>T	c.(34198-34200)GTA>GTT	p.V11400V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11402	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCATATCTGGTACATCAGGTG	0.458													A	9047431	T	A	9047431	2	1	27	1	0	0	0	0	0	0	0	1	9973	1625	57	5		5	MUC16	19	9047431	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	915	9047431	50081552	7562	31513											
MUC16	94025	broad.mit.edu	37	chr19	9064310	9064311	+	Frame_Shift_Ins	INS	-	-	G													aagtcacaggaaggggagagINSggggggatatgtgctaggaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:9064309_9064310A>AG	uc002mkp.3	-	2	23340_23341	c.23136_23137T>CT	c.(23134-23139)ccctctfs	p.P7712fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7714	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P7711P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATAT	0.53													G	9064311	-	G	9064310	7	5	27	1	0	1	1	0	0	0	0	0	9973	987	35	0	20715	0	MUC16	19	9064310	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	16879	9064310	50064673	7563	31514											
MUC16	94025	broad.mit.edu	37	chr19	9068197	9068197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtccggtgacattgtggGcttttcagtgccttggatgg	16	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:9068197G>A	uc002mkp.2	-	3	19453	c.19249C>T	c.(19249-19251)CCC>TCC	p.P6417S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6419	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GACATTGTGGGCTTTTCAGTG	0.493													A	9068197	G	A	9068197	3	1	27	1	0	0	0	0	1	0	0	0	9973	1203	42	2	24602	2	MUC16	19	9068197	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3887	9068197	50060786	7564	31515											
MUC16	94025	broad.mit.edu	37	chr19	9072001	9072001	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccatttgagttgtggcttTgggtgtctctgagtcagcca	12	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:9072001T>C	uc002mkp.2	-	3	15649	c.15445A>G	c.(15445-15447)AAA>GAA	p.K5149E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5151	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTTGTGGCTTTGGGTGTCTCT	0.463													C	9072001	T	C	9072001	3	2	27	1	0	0	0	0	1	0	0	0	9973	1821	63	3	28406	3	MUC16	19	9072001	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3804	9072001	50056982	7565	31516											
MUC16	94025	broad.mit.edu	37	chr19	9076686	9076686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtccaggaatctgatgcaGctgtggaagaccaggtggaa	14	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:9076686G>A	uc002mkp.2	-	3	10964	c.10760C>T	c.(10759-10761)GCT>GTT	p.A3587V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3588	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ATCTGATGCAGCTGTGGAAGA	0.493													A	9076686	G	A	9076686	3	1	27	1	0	0	0	0	1	0	0	0	9973	971	34	2	33091	2	MUC16	19	9076686	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4685	9076686	50052297	7566	31517											
MUC16	94025	broad.mit.edu	37	chr19	9091505	9091505	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgacctggggactcagcgAtgggctggttctttgctcgg	15	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:9091505A>G	uc002mkp.2	-	1	514	c.310T>C	c.(310-312)TCG>CCG	p.S104P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	104	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGACTCAGCGATGGGCTGGTT	0.542													G	9091505	A	G	9091505	3	3	27	1	0	0	0	0	1	0	0	0	9973	333	12	3	43549	3	MUC16	19	9091505	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	14819	9091505	50037478	7567	31518											
MUC16	94025	broad.mit.edu	37	chr19	9091600	9091600	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagactgggtggttcttcccAcaaccgaagatgtaggactg	12	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:9091600A>G	uc002mkp.2	-	1	419	c.215T>C	c.(214-216)GTG>GCG	p.V72A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	72	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGTTCTTCCCACAACCGAAGA	0.517													G	9091600	A	G	9091600	3	3	27	1	0	0	0	0	1	0	0	0	9973	159	6	3	43644	3	MUC16	19	9091600	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	95	9091600	50037383	7568	31519											
OR1M1	125963	broad.mit.edu	37	chr19	9204164	9204164	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaacaccatccctaagatgCtggtgagccttcaaaccggg	9	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:9204164C>A	uc010xkj.1	+	1	244	c.244C>A	c.(244-246)CTG>ATG	p.L82M		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M,	82	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3						CCCTAAGATGCTGGTGAGCCT	0.522													A	9204164	C	A	9204164	3	1	27	1	0	0	0	0	1	0	0	0	10968	796	28	5	246	5	OR1M1	19	9204164	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	112564	9204164	49924819	7569	31520											
OR7D4	125958	broad.mit.edu	37	chr19	9325015	9325015	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtgcctgtggagaaggTcaacctcttcatcagtagaa	10	10	5	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:9325015T>C	uc002mla.1	-	1	499	c.499A>G	c.(499-501)ACC>GCC	p.T167A		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GTGGAGAAGGTCAACCTCTTC	0.498													C	9325015	T	C	9325015	3	2	27	1	0	0	0	0	1	0	0	0	11220	1667	58	3	443	3	OR7D4	19	9325015	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	120851	9325015	49803968	7570	31521											
OR7D4	125958	broad.mit.edu	37	chr19	9325203	9325203	+	Frame_Shift_Del	DEL	A	A	-													ccattccagcaaacatcattAaaaaatacacctgagtgagg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:9325202_9325202TA>T	uc002mla.2	-	0	346	c.312_312TA>A	c.(310-312)ttafs	p.L104fs		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CAAACATCATTAAAAAATACA	0.507													-	9325203	A	-	9325203	7	5	27	1	0	1	0	1	0	0	0	0	11220	372	13	0	631	0	OR7D4	19	9325203	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	188	9325203	49803780	7571	31522											
ZNF560	147741	broad.mit.edu	37	chr19	9578698	9578698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctgagttttcctgtgtgCttcaaggtatgactgataaa	9	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:9578698C>T	uc002mlp.1	-	10	1135	c.925G>A	c.(925-927)GCA>ACA	p.A309T	ZNF560_uc010dwr.1_Missense_Mutation_p.A203T	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	309	C2H2-type 1; degenerate.				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						TTCCTGTGTGCTTCAAGGTAT	0.403													T	9578698	C	T	9578698	3	4	27	1	0	0	0	0	1	0	0	0	17988	797	28	2	1451	2	ZNF560	19	9578698	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	253495	9578698	49550285	7572	31523											
ZNF121	7675	broad.mit.edu	37	chr19	9676744	9676744	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagatgtgaagaagcacggaAggttttcccacattccttac	9	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:9676744A>C	uc010xkp.1	-	4	1277	c.1045T>G	c.(1045-1047)TTC>GTC	p.F349V	ZNF121_uc010dwt.2_Missense_Mutation_p.F349V|ZNF121_uc010xkq.1_Missense_Mutation_p.F349V	NM_001008727	NP_001008727	P58317	ZN121_HUMAN	zinc finger protein 121	349	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GAAGCACGGAAGGTTTTCCCA	0.383													C	9676744	A	C	9676744	3	2	27	1	0	0	0	0	1	0	0	0	17716	72	3	5	131	5	ZNF121	19	9676744	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	98046	9676744	49452239	7573	31524											
ZNF121	7675	broad.mit.edu	37	chr19	9677546	9677546	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggatttgtctcctatccaCgttctctggtgaacatttgg	9	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:9677546C>T	uc010xkp.1	-	4	475	c.243G>A	c.(241-243)ACG>ACA	p.T81T	ZNF121_uc010dwt.2_Silent_p.T81T|ZNF121_uc010xkq.1_Silent_p.T81T	NM_001008727	NP_001008727	P58317	ZN121_HUMAN	zinc finger protein 121	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTCCTATCCACGTTCTCTGGT	0.453													T	9677546	C	T	9677546	2	4	27	1	0	0	0	0	0	0	0	1	17716	523	19	1		1	ZNF121	19	9677546	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	802	9677546	49451437	7574	31525											
ZNF846	162993	broad.mit.edu	37	chr19	9868340	9868340	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaggcttttctcctgtgtgCgttcgcatgtgcatattaag	10	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:9868340C>T	uc002mmb.1	-	6	1944	c.1413G>A	c.(1411-1413)ACG>ACA	p.T471T	ZNF846_uc010xky.1_Intron|ZNF846_uc010xkz.1_Intron|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_Silent_p.T342T	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	471	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTCCTGTGTGCGTTCGCATGT	0.433													T	9868340	C	T	9868340	2	4	27	1	0	0	0	0	0	0	0	1	18189	755	27	1		1	ZNF846	19	9868340	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	190794	9868340	49260643	7575	31526											
FBXL12	54850	broad.mit.edu	37	chr19	9922090	9922090	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgcggtccagcacgatgcAttcaagcaggggcagcacgg	15	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:9922090A>G	uc002mme.2	-	3	705	c.463T>C	c.(463-465)TGC>CGC	p.C155R	FBXL12_uc002mmd.2_Missense_Mutation_p.C102R|FBXL12_uc002mmf.2_Missense_Mutation_p.C102R|FBXL12_uc002mmg.2_Missense_Mutation_p.C102R|FBXL12_uc002mmh.2_Missense_Mutation_p.C102R	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	155							protein binding			lung(1)|kidney(1)	2						AGCACGATGCATTCAAGCAGG	0.677													G	9922090	A	G	9922090	3	3	27	1	0	0	0	0	1	0	0	0	5708	217	8	3	521	3	FBXL12	19	9922090	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	53750	9922090	49206893	7576	31527											
PIN1	5300	broad.mit.edu	37	chr19	9949266	9949266	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccagtcacggcggccctcGtcctggcggcaggagaagat	15	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:9949266G>A	uc002mml.1	+	2	235	c.213G>A	c.(211-213)TCG>TCA	p.S71S	PIN1_uc002mmk.1_Silent_p.S71S|PIN1_uc002mmm.1_Silent_p.S71S|PIN1_uc002mmn.1_RNA	NM_006221	NP_006212	Q13526	PIN1_HUMAN	protein (peptidyl-prolyl cis/trans isomerase)	71	PpiC.				cell cycle|negative regulation of cell motility|negative regulation of ERK1 and ERK2 cascade|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation	nucleoplasm	GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding			skin(1)	1						GGCGGCCCTCGTCCTGGCGGC	0.682													A	9949266	G	A	9949266	2	1	27	1	0	0	0	0	0	0	0	1	11930	1132	40	1		1	PIN1	19	9949266	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	27176	9949266	49179717	7577	31528											
COL5A3	50509	broad.mit.edu	37	chr19	10108053	10108053	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggagtctcttaccggtggAccagggtcgccagggaatcc	15	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:10108053A>C	uc002mmq.1	-	11	1343	c.1257T>G	c.(1255-1257)GGT>GGG	p.G419G		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	419	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			TTACCGGTGGACCAGGGTCGC	0.597													C	10108053	A	C	10108053	2	2	27	1	0	0	0	0	0	0	0	1	3698	262	10	5		5	COL5A3	19	10108053	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	158787	10108053	49020930	7578	31529											
DNMT1	1786	broad.mit.edu	37	chr19	10250789	10250789	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgaattgaagcggttcatgcCgctgaagccctggcagggcg	15	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:10250789C>A	uc002mng.2	-	32	3871	c.3691G>T	c.(3691-3693)GGC>TGC	p.G1231C	DNMT1_uc002mne.2_RNA|DNMT1_uc002mnf.2_Missense_Mutation_p.G155C|DNMT1_uc010xlc.1_Missense_Mutation_p.G1247C|DNMT1_uc002mnh.2_Missense_Mutation_p.G1126C|DNMT1_uc010xld.1_Missense_Mutation_p.G1231C	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	1231	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CGGTTCATGCCGCTGAAGCCC	0.622													A	10250789	C	A	10250789	3	1	27	1	0	0	0	0	1	0	0	0	4675	652	23	5	1195	5	DNMT1	19	10250789	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	142736	10250789	48878194	7579	31530											
DNMT1	1786	broad.mit.edu	37	chr19	10271068	10271069	+	Frame_Shift_Ins	INS	-	-	G													taaattcttacggttctttgINSggggtcgttttgcgtctctt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:10271067_10271068T>TG	uc002mng.3	-	12	1167_1168	c.987_988A>CA	c.(985-990)cccaaafs	p.P329fs	DNMT1_uc010xlc.2_Frame_Shift_Ins_p.P345fs|DNMT1_uc002mnh.3_Frame_Shift_Ins_p.P224fs|DNMT1_uc010xld.2_Frame_Shift_Ins_p.P329fs|DNMT1_uc002mnk.3_Non-coding_Transcript	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	329	Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TACGGTTCTTTGGGGGTCGTTT	0.401													G	10271069	-	G	10271068	7	5	27	1	0	1	1	0	0	0	0	0	4675	1335	47	0	3975	0	DNMT1	19	10271068	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	20279	10271068	48857915	7580	31531											
KEAP1	9817	broad.mit.edu	37	chr19	10610576	10610576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtgcggttgccatgctggGagggcgtcacctccgccttg	16	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:10610576G>A	uc002moq.1	-	2	290	c.134C>T	c.(133-135)TCC>TTC	p.S45F	KEAP1_uc002mor.1_Missense_Mutation_p.S45F	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.S45S(1)		lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCCATGCTGGGAGGGCGTCAC	0.637													A	10610576	G	A	10610576	3	1	27	1	0	0	0	0	1	0	0	0	8141	1174	41	4	1760	4	KEAP1	19	10610576	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	339508	10610576	48518407	7581	31532											
ATG4D	84971	broad.mit.edu	37	chr19	10662732	10662732	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctgcagatgacttcctgCtgtacctggaccctcactac	7	17	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:10662732C>T	uc002mov.2	+	8	1177	c.1057C>T	c.(1057-1059)CTG>TTG	p.L353L	ATG4D_uc010xlh.1_Silent_p.L290L|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Silent_p.L20L|MIR1238_hsa-mir-1238|MI0006328_5'Flank	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	APG4 autophagy 4 homolog D	353					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity				0			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGACTTCCTGCTGTACCTGGA	0.423													T	10662732	C	T	10662732	2	4	27	1	0	0	0	0	0	0	0	1	1099	796	28	2		2	ATG4D	19	10662732	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	52156	10662732	48466251	7582	31533											
CARM1	10498	broad.mit.edu	37	chr19	11032313	11032313	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctccggcgcccagggcagTggtggtggcagcacgagtgc	17	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:11032313T>C	uc002mpz.2	+	16	1833	c.1707T>C	c.(1705-1707)AGT>AGC	p.S569S	CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Silent_p.S329S	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	coactivator-associated arginine	569	Transactivation domain (By similarity).				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding				0						CCCAGGGCAGTGGTGGTGGCA	0.667													C	11032313	T	C	11032313	2	2	27	1	0	0	0	0	0	0	0	1	2655	1693	59	3		3	CARM1	19	11032313	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	369581	11032313	48096670	7583	31534											
SMARCA4	6597	broad.mit.edu	37	chr19	11106911	11106911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagatgaggaggggtaccGcaagctcatcgaccagaaga	14	8	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:11106911G>A	uc002mqf.3	+	10	1900	c.1616G>A	c.(1615-1617)CGC>CAC	p.R539H	SMARCA4_uc010dxp.2_Missense_Mutation_p.R539H|SMARCA4_uc010dxo.2_Missense_Mutation_p.R539H|SMARCA4_uc002mqg.1_Missense_Mutation_p.R539H|SMARCA4_uc010dxq.2_Missense_Mutation_p.R539H|SMARCA4_uc010dxr.2_Missense_Mutation_p.R539H|SMARCA4_uc002mqj.3_Missense_Mutation_p.R539H|SMARCA4_uc010dxs.2_Missense_Mutation_p.R539H|SMARCA4_uc002mqe.2_Missense_Mutation_p.R539H	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	539					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GAGGGGTACCGCAAGCTCATC	0.562			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				A	11106911	G	A	11106911	3	1	27	1	0	0	0	0	1	0	0	0	14770	1087	38	1	1650	1	SMARCA4	19	11106911	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	74598	11106911	48022072	7584	31535											
SMARCA4	6597	broad.mit.edu	37	chr19	11113781	11113781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgggaagatcctcacagGcacagatgcccccaaagccg	12	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:11113781G>A	uc002mqf.3	+	12	2173	c.1889G>A	c.(1888-1890)GGC>GAC	p.G630D	SMARCA4_uc010dxp.2_Missense_Mutation_p.G630D|SMARCA4_uc010dxo.2_Missense_Mutation_p.G630D|SMARCA4_uc002mqg.1_Missense_Mutation_p.G630D|SMARCA4_uc010dxq.2_Missense_Mutation_p.G630D|SMARCA4_uc010dxr.2_Missense_Mutation_p.G630D|SMARCA4_uc002mqj.3_Missense_Mutation_p.G630D|SMARCA4_uc010dxs.2_Missense_Mutation_p.G630D	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	630					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ATCCTCACAGGCACAGATGCC	0.597			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				A	11113781	G	A	11113781	3	1	27	1	0	0	0	0	1	0	0	0	14770	1203	42	2	1931	2	SMARCA4	19	11113781	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	6870	11113781	48015202	7585	31536											
SMARCA4	6597	broad.mit.edu	37	chr19	11121158	11121158	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatgctgtcactgagagagTggacaagcagtcagcgctta	12	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:11121158T>C	uc002mqf.3	+	15	2509	c.2225T>C	c.(2224-2226)GTG>GCG	p.V742A	SMARCA4_uc010dxp.2_Missense_Mutation_p.V742A|SMARCA4_uc010dxo.2_Missense_Mutation_p.V742A|SMARCA4_uc002mqg.1_Missense_Mutation_p.V742A|SMARCA4_uc010dxq.2_Missense_Mutation_p.V742A|SMARCA4_uc010dxr.2_Missense_Mutation_p.V742A|SMARCA4_uc002mqj.3_Missense_Mutation_p.V742A|SMARCA4_uc010dxs.2_Missense_Mutation_p.V742A|SMARCA4_uc010dxt.1_5'Flank	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	742					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACTGAGAGAGTGGACAAGCAG	0.582			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				C	11121158	T	C	11121158	3	2	27	1	0	0	0	0	1	0	0	0	14770	1696	59	3	2279	3	SMARCA4	19	11121158	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	7377	11121158	48007825	7586	31537											
SMARCA4	6597	broad.mit.edu	37	chr19	11135038	11135038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcaagtgcgacatgtctgCgctgcagcgagtgctctacc	11	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:11135038C>T	uc002mqf.3	+	21	3289	c.3005C>T	c.(3004-3006)GCG>GTG	p.A1002V	SMARCA4_uc010dxp.2_Missense_Mutation_p.A1002V|SMARCA4_uc010dxo.2_Missense_Mutation_p.A1002V|SMARCA4_uc002mqg.1_Missense_Mutation_p.A1002V|SMARCA4_uc010dxq.2_Missense_Mutation_p.A1002V|SMARCA4_uc010dxr.2_Missense_Mutation_p.A1002V|SMARCA4_uc002mqj.3_Missense_Mutation_p.A1002V|SMARCA4_uc010dxs.2_Missense_Mutation_p.A1002V|SMARCA4_uc010dxt.1_Missense_Mutation_p.A222V|SMARCA4_uc002mqh.3_Missense_Mutation_p.A125V|SMARCA4_uc002mqi.1_Missense_Mutation_p.A205V	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1002					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GACATGTCTGCGCTGCAGCGA	0.622			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				T	11135038	C	T	11135038	3	4	27	1	0	0	0	0	1	0	0	0	14770	768	27	1	3083	1	SMARCA4	19	11135038	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	13880	11135038	47993945	7587	31538											
DOCK6	57572	broad.mit.edu	37	chr19	11311643	11311643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtagcatcttagcatctGgtgggtcctgctcggtggca	13	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:11311643G>A	uc002mqs.3	-	45	5815	c.5774C>T	c.(5773-5775)CCA>CTA	p.P1925L	DOCK6_uc002mqr.3_Missense_Mutation_p.P325L|DOCK6_uc010xlq.1_Missense_Mutation_p.P1264L	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1925	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CTTAGCATCTGGTGGGTCCTG	0.632													A	11311643	G	A	11311643	3	1	27	1	0	0	0	0	1	0	0	0	4691	1348	47	4	385	4	DOCK6	19	11311643	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	176605	11311643	47817340	7588	31539											
LPPR2	64748	broad.mit.edu	37	chr19	11473321	11473321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgaaaccactggtcggacGtgctggctggcttcctgaca	12	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:11473321G>A	uc002mre.1	+	7	1133	c.796G>A	c.(796-798)GTG>ATG	p.V266M	LPPR2_uc002mrf.1_Missense_Mutation_p.V241M|LPPR2_uc010dxy.1_Missense_Mutation_p.V73M	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN	lipid phosphate phosphatase-related protein type	266	Helical; (Potential).					integral to membrane	phosphatidate phosphatase activity			large_intestine(1)	1						CTGGTCGGACGTGCTGGCTGG	0.652													A	11473321	G	A	11473321	3	1	27	1	0	0	0	0	1	0	0	0	8925	1145	40	1	814	1	LPPR2	19	11473321	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	161678	11473321	47655662	7589	31540											
ZNF823	55552	broad.mit.edu	37	chr19	11832634	11832634	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagtgtgagttttttcatgtCctcgaaggaaacgggaacga	12	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:11832634C>A	uc002msm.2	-	4	1841	c.1715G>T	c.(1714-1716)GGA>GTA	p.G572V	ZNF823_uc010xmd.1_Missense_Mutation_p.G390V|ZNF823_uc010dyi.1_Missense_Mutation_p.G528V	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	ZFP-36 for a zinc finger protein	572	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TTTTTCATGTCCTCGAAGGAA	0.433										HNSCC(68;0.2)			A	11832634	C	A	11832634	3	1	27	1	0	0	0	0	1	0	0	0	18176	855	30	5	121	5	ZNF823	19	11832634	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	359313	11832634	47296349	7590	31541											
ZNF441	126068	broad.mit.edu	37	chr19	11891793	11891793	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgtcgaaggcatgaaacaaCtcatactggggagaaaccct	10	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:11891793C>G	uc010dyj.2	+	4	1348	c.1154C>G	c.(1153-1155)ACT>AGT	p.T385S	ZNF441_uc002msn.3_Missense_Mutation_p.T341S	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	385	C2H2-type 8.			T -> A (in Ref. 1; BAC04661).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CATGAAACAACTCATACTGGG	0.418													G	11891793	C	G	11891793	3	3	27	1	0	0	0	0	1	0	0	0	17911	565	20	5	1168	5	ZNF441	19	11891793	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	59159	11891793	47237190	7591	31542											
ZNF700	90592	broad.mit.edu	37	chr19	12059503	12059503	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcacagtggggatggaactTataaatgtaaattttgtggg	13	3	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:12059503T>C	uc002msu.2	+	4	790	c.664T>C	c.(664-666)TAT>CAT	p.Y222H	ZNF700_uc010xme.1_Missense_Mutation_p.Y240H|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	222	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGATGGAACTTATAAATGTAA	0.368													C	12059503	T	C	12059503	3	2	27	1	0	0	0	0	1	0	0	0	18101	1754	61	3	678	3	ZNF700	19	12059503	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	167710	12059503	47069480	7592	31543											
ZNF700	90592	broad.mit.edu	37	chr19	12060238	12060238	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accttcgagtgcatggtaggActcatactggagagaaaccc	11	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:12060238A>G	uc002msu.2	+	4	1525	c.1399A>G	c.(1399-1401)ACT>GCT	p.T467A	ZNF700_uc010xme.1_Missense_Mutation_p.T485A|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	467	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCATGGTAGGACTCATACTGG	0.448													G	12060238	A	G	12060238	3	3	27	1	0	0	0	0	1	0	0	0	18101	275	10	3	1413	3	ZNF700	19	12060238	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	735	12060238	47068745	7593	31544											
ZNF700	90592	broad.mit.edu	37	chr19	12060550	12060550	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgagtgtaagcaatgtgggAaagccttcagatctgcctca	11	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:12060550A>G	uc002msu.2	+	4	1837	c.1711A>G	c.(1711-1713)AAA>GAA	p.K571E	ZNF700_uc010xme.1_Missense_Mutation_p.K589E|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	571	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCAATGTGGGAAAGCCTTCAG	0.458													G	12060550	A	G	12060550	3	3	27	1	0	0	0	0	1	0	0	0	18101	247	9	3	1725	3	ZNF700	19	12060550	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	312	12060550	47068433	7594	31545											
ZNF700	90592	broad.mit.edu	37	chr19	12060661	12060661	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagttgtgcctcaaaccttCgaaagcatggtaggactcac	9	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:12060661C>T	uc002msu.2	+	4	1948	c.1822C>T	c.(1822-1824)CGA>TGA	p.R608*	ZNF700_uc010xme.1_Nonsense_Mutation_p.R626*|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	608	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTCAAACCTTCGAAAGCATGG	0.473													T	12060661	C	T	12060661	4	4	27	1	0	0	0	0	0	1	0	0	18101	876	31	1	1836	1	ZNF700	19	12060661	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	111	12060661	47068322	7595	31546											
ZNF763	284390	broad.mit.edu	37	chr19	12087930	12087930	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggatatttcgcagaggaaActctacagggaagtgatgct	12	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:12087930A>C	uc002msw.2	+	2	236	c.81A>C	c.(79-81)AAA>AAC	p.K27N	ZNF763_uc010xmf.1_Missense_Mutation_p.K47N|ZNF763_uc002msv.2_Missense_Mutation_p.K30N|ZNF763_uc010xmg.1_Intron	NM_001012753	NP_001012771	Q0D2J5	ZN763_HUMAN	zinc finger protein 763	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						CGCAGAGGAAACTCTACAGGG	0.473													C	12087930	A	C	12087930	3	2	27	1	0	0	0	0	1	0	0	0	18134	40	2	5	96	5	ZNF763	19	12087930	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	27269	12087930	47041053	7596	31547											
ZNF433	163059	broad.mit.edu	37	chr19	12126679	12126679	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttacattcatagggtttttTcctagagtgggttctttcat	8	6	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:12126679T>C	uc002msy.1	-	4	1174	c.1003A>G	c.(1003-1005)AAA>GAA	p.K335E	uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.K300E	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TAGGGTTTTTTCCTAGAGTGG	0.403													C	12126679	T	C	12126679	3	2	27	1	0	0	0	0	1	0	0	0	17904	1792	62	3	1022	3	ZNF433	19	12126679	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	38749	12126679	47002304	7597	31548											
ZNF433	163059	broad.mit.edu	37	chr19	12129088	12129088	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaaggtcacagccacaTcctcaaaggccactgaatcc	10	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:12129088T>C	uc002msy.1	-	2	203	c.32A>G	c.(31-33)GAT>GGT	p.D11G	uc002msx.1_Intron|ZNF433_uc002msz.1_5'UTR	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	11	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CACAGCCACATCCTCAAAGGC	0.473													C	12129088	T	C	12129088	3	2	27	1	0	0	0	0	1	0	0	0	17904	1435	50	3	2001	3	ZNF433	19	12129088	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2409	12129088	46999895	7598	31549											
ZNF878	729747	broad.mit.edu	37	chr19	12155709	12155710	+	Frame_Shift_Ins	INS	-	-	T													actgcttacattcatagggtINSttttttgcagagtggattct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:12155708_12155709G>GT	uc021upl.1	-	3	673_674	c.507_508C>AC	c.(505-510)aaacccfs	p.K169fs	ZNF878_uc002mta.1_Frame_Shift_Ins_p.K216fs	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.P170P(1)		cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CATTCATAGGGTTTTTTTGCAG	0.411													T	12155710	-	T	12155709	7	5	27	1	0	1	1	0	0	0	0	0	18193	1722	60	0	1092	0	ZNF878	19	12155709	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	26621	12155709	46973274	7599	31550											
ZNF20	7568	broad.mit.edu	37	chr19	12244607	12244607	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atattcctgatactcagatgActtgtgtccagtgtcagctc	8	10	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:12244607A>T	uc002mtf.1	-	4	537	c.394T>A	c.(394-396)TCA>ACA	p.S132T	ZNF20_uc002mte.1_Missense_Mutation_p.S97T|ZNF20_uc002mtg.1_Missense_Mutation_p.S132T	NM_021143	NP_066966	P17024	ZNF20_HUMAN	zinc finger protein 20	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TACTCAGATGACTTGTGTCCA	0.403													T	12244607	A	T	12244607	3	4	27	1	0	0	0	0	1	0	0	0	17758	275	10	5	1208	5	ZNF20	19	12244607	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	88898	12244607	46884376	7600	31551											
ZNF136	7695	broad.mit.edu	37	chr19	12296931	12296931	+	Splice_Site	DEL	A	A	-													tctgggtctctgttttagggAaaaaatggaaggaccagaac							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:12296930_12296930GA>G	uc002mti.3	+	3	278	c.131_splice	c.e3-1	p.G44_splice	ZNF136_uc010xmh.2_Splice_Site	NM_003437	NP_003428	P52737	ZN136_HUMAN	Homo sapiens zinc finger protein 136 (ZNF136), mRNA.	44	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CTGTTTTAGGGAAAAAATGGA	0.348													-	12296931	A	-	12296931	8	5	27	1	0	1	0	1	0	0	1	0	17723	247	9	0	143	0	ZNF136	19	12296931	Splice_Site	DEL	A	TCGA-BR-6452-01A-12D-1800-08	52324	12296931	46832052	7601	31552											
ZNF563	147837	broad.mit.edu	37	chr19	12430623	12430623	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactactgtctttactttcActgaatctctctaccatatg	4	11	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:12430623A>G	uc002mtp.2	-	4	454	c.216T>C	c.(214-216)AGT>AGC	p.S72S	ZNF563_uc002mtq.2_Silent_p.S72S	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	zinc finger protein 563	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTTTACTTTCACTGAATCTCT	0.333													G	12430623	A	G	12430623	2	3	27	1	0	0	0	0	0	0	0	1	17991	156	6	3		3	ZNF563	19	12430623	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	133692	12430623	46698360	7602	31553											
ZNF442	79973	broad.mit.edu	37	chr19	12461945	12461945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattgtttatgtgtatgtgGcttctctccatattcctgac	7	9	1	1	rs10414971	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:12461945G>A	uc002mtr.1	-	6	1065	c.454C>T	c.(454-456)CCA>TCA	p.P152S	ZNF442_uc010xmk.1_Missense_Mutation_p.P83S	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P152S(1)		large_intestine(2)|breast(1)|kidney(1)	4						TGTGTATGTGGCTTCTCTCCA	0.413													A	12461945	G	A	12461945	3	1	27	1	0	0	0	0	1	0	0	0	17912	1203	42	2	1433	2	ZNF442	19	12461945	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	31322	12461945	46667038	7603	31554											
ZNF799	90576	broad.mit.edu	37	chr19	12491527	12491527	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggaagtggaagcactgaaGgctttcccacattgtttaca	11	8	0	1	rs113611242		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:12491527G>T	uc002mts.3	-	4	1015	c.549C>A	c.(547-549)GCC>GCA	p.A183A				Q96GE5	ZN799_HUMAN	Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****.	289	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						AAGCACTGAAGGCTTTCCCAC	0.428													T	12491527	G	T	12491527	2	4	27	1	0	0	0	0	0	0	0	1	18163	1015	35	5		5	ZNF799	19	12491527	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	29582	12491527	46637456	7604	31555											
ZNF799	90576	broad.mit.edu	37	chr19	12502889	12502889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccatgatgacttctccaCtcatacggctttcatatgga	7	12	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:12502889C>T	uc010dyt.2	-	4	473	c.323G>A	c.(322-324)AGT>AAT	p.S108N	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						GACTTCTCCACTCATACGGCT	0.423													T	12502889	C	T	12502889	3	4	27	1	0	0	0	0	1	0	0	0	18163	565	20	4	1612	4	ZNF799	19	12502889	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	11362	12502889	46626094	7605	31556											
ZNF490	57474	broad.mit.edu	37	chr19	12692186	12692186	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatatggtttcgaaaggaaaAgagaaatgcgaaggctttgc	12	4	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:12692186A>C	uc002mtz.2	-	5	832	c.703T>G	c.(703-705)TTT>GTT	p.F235V		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	235	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CGAAAGGAAAAGAGAAATGCG	0.438													C	12692186	A	C	12692186	3	2	27	1	0	0	0	0	1	0	0	0	17938	72	3	5	890	5	ZNF490	19	12692186	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	189297	12692186	46436797	7606	31557											
ASNA1	439	broad.mit.edu	37	chr19	12856292	12856292	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgcaggaggccatgagCgcatttcccggcatcgatga	13	10	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:12856292C>T	uc002muv.2	+	3	425	c.411C>T	c.(409-411)AGC>AGT	p.S137S	ASNA1_uc002muw.2_Silent_p.S136S	NM_004317	NP_004308	O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog	137					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			ovary(2)	2					Adenosine triphosphate(DB00171)	AGGCCATGAGCGCATTTCCCG	0.627													T	12856292	C	T	12856292	2	4	27	1	0	0	0	0	0	0	0	1	1047	767	27	1		1	ASNA1	19	12856292	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	164106	12856292	46272691	7607	31558											
RNASEH2A	10535	broad.mit.edu	37	chr19	12918104	12918104	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcggctgggcgctggatgTgctgtctccaaacctcatct	12	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:12918104T>C	uc002mvg.1	+	3	344	c.284T>C	c.(283-285)GTG>GCG	p.V95A	RNASEH2A_uc002mvf.1_Missense_Mutation_p.V13A	NM_006397	NP_006388	O75792	RNH2A_HUMAN	ribonuclease H2, large subunit	95					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(2)|central_nervous_system(1)	3						GCGCTGGATGTGCTGTCTCCA	0.582													C	12918104	T	C	12918104	3	2	27	1	0	0	0	0	1	0	0	0	13412	1696	59	3	294	3	RNASEH2A	19	12918104	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	61812	12918104	46210879	7608	31559											
MAST1	22983	broad.mit.edu	37	chr19	12984255	12984255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgatagtctcccgggctcGcctacgcacgggctgccggc	14	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:12984255G>A	uc002mvm.2	+	25	3509	c.3381G>A	c.(3379-3381)TCG>TCA	p.S1127S		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1127					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						TCCCGGGCTCGCCTACGCACG	0.657													A	12984255	G	A	12984255	2	1	27	1	0	0	0	0	0	0	0	1	9324	1074	38	1		1	MAST1	19	12984255	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	66151	12984255	46144728	7609	31560											
GCDH	2639	broad.mit.edu	37	chr19	13006890	13006890	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggagaccagagcccactAcaactcatccaacaagagct	7	14	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:13006890A>G	uc002mvq.2	+	7	667	c.590A>G	c.(589-591)TAC>TGC	p.Y197C	GCDH_uc010xms.1_Missense_Mutation_p.Y164C|GCDH_uc002mvp.2_Missense_Mutation_p.Y197C|GCDH_uc010xmt.1_Missense_Mutation_p.T43A|GCDH_uc010xmu.1_Missense_Mutation_p.Y153C	NM_000159	NP_000150	Q92947	GCDH_HUMAN	glutaryl-Coenzyme A dehydrogenase isoform a	197					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding				0						AGAGCCCACTACAACTCATCC	0.602													G	13006890	A	G	13006890	3	3	27	1	0	0	0	0	1	0	0	0	6287	391	14	3	612	3	GCDH	19	13006890	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	22635	13006890	46122093	7610	31561											
CALR	811	broad.mit.edu	37	chr19	13050442	13050442	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcagaatacaacatcatgTttggtgagggcctgcttcct	9	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:13050442T>C	uc002mvu.2	+	3	474	c.394T>C	c.(394-396)TTT>CTT	p.F132L		NM_004343	NP_004334	P27797	CALR_HUMAN	calreticulin precursor	132	N-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAACATCATGTTTGGTGAGGG	0.473													C	13050442	T	C	13050442	3	2	27	1	0	0	0	0	1	0	0	0	2592	1725	60	3	404	3	CALR	19	13050442	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	43552	13050442	46078541	7611	31562											
TRMT1	55621	broad.mit.edu	37	chr19	13226211	13226211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccacagatctgagcccagGcacctctagggcaaatcgaa	9	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:13226211G>A	uc002mwj.2	-	4	773	c.523C>T	c.(523-525)CCT>TCT	p.P175S	NACC1_uc002mwm.2_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.P175S|TRMT1_uc002mwl.3_Missense_Mutation_p.P175S|TRMT1_uc010xmz.1_5'UTR	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	175							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CTGAGCCCAGGCACCTCTAGG	0.577													A	13226211	G	A	13226211	3	1	27	1	0	0	0	0	1	0	0	0	16558	1203	42	2	1508	2	TRMT1	19	13226211	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	175769	13226211	45902772	7612	31563											
STX10	8677	broad.mit.edu	37	chr19	13255675	13255675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagctgttgatcctgttcatCcatgatcagctgcagagcga	10	11	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:13255675C>T	uc010xnb.1	-	6	481	c.481G>A	c.(481-483)GAT>AAT	p.D161N	STX10_uc002mwn.2_Missense_Mutation_p.D60N|STX10_uc002mwo.2_Missense_Mutation_p.D60N|STX10_uc010xna.1_RNA|STX10_uc010xnc.1_Missense_Mutation_p.D62N	NM_003765	NP_003756	O60499	STX10_HUMAN	syntaxin 10	161	t-SNARE coiled-coil homology.|Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			TCCTGTTCATCCATGATCAGC	0.438													T	13255675	C	T	13255675	3	4	27	1	0	0	0	0	1	0	0	0	15335	855	30	4	279	4	STX10	19	13255675	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	29464	13255675	45873308	7613	31564											
STX10	8677	broad.mit.edu	37	chr19	13256151	13256151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgagatgtggccgagactGcgctggcatccagcaggtcg	16	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:13256151G>A	uc010xnb.1	-	5	422	c.422C>T	c.(421-423)GCA>GTA	p.A141V	STX10_uc002mwn.2_Missense_Mutation_p.A40V|STX10_uc002mwo.2_Missense_Mutation_p.A40V|STX10_uc010xna.1_RNA|STX10_uc010xnc.1_Missense_Mutation_p.A42V	NM_003765	NP_003756	O60499	STX10_HUMAN	syntaxin 10	141	Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			GGCCGAGACTGCGCTGGCATC	0.622													A	13256151	G	A	13256151	3	1	27	1	0	0	0	0	1	0	0	0	15335	1319	46	2	342	2	STX10	19	13256151	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	476	13256151	45872832	7614	31565											
CC2D1A	54862	broad.mit.edu	37	chr19	14040966	14040966	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgggcaacgatggcagcaGggtgagctggtcgcgggccg	19	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:14040966G>T	uc002mxo.2	+	27	3085	c.2786G>T	c.(2785-2787)AGG>ATG	p.R929M	CC2D1A_uc002mxp.2_Missense_Mutation_p.R928M|CC2D1A_uc010dzh.2_Missense_Mutation_p.R498M	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	929					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GATGGCAGCAGGGTGAGCTGG	0.677													T	14040966	G	T	14040966	3	4	27	1	0	0	0	0	1	0	0	0	2726	1014	35	5	2892	5	CC2D1A	19	14040966	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	784815	14040966	45088017	7615	31566											
DCAF15	90379	broad.mit.edu	37	chr19	14067214	14067214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcatgctgcacaccaagTaccaggtggtctaccccttc	8	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:14067214T>C	uc002mxt.2	+	6	670	c.664T>C	c.(664-666)TAC>CAC	p.Y222H		NM_138353	NP_612362	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	222										central_nervous_system(1)	1						GCACACCAAGTACCAGGTGGT	0.627													C	14067214	T	C	14067214	3	2	27	1	0	0	0	0	1	0	0	0	4267	1638	57	3	686	3	DCAF15	19	14067214	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	26248	14067214	45061769	7616	31567											
RFX1	5989	broad.mit.edu	37	chr19	14104630	14104630	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggtggcggggctgcctgtAgctcagtatacgcctgtgtt	15	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:14104630A>G	uc002mxv.2	-	2	298	c.26T>C	c.(25-27)CTA>CCA	p.L9P	RFX1_uc010dzi.2_Missense_Mutation_p.L9P	NM_002918	NP_002909	P22670	RFX1_HUMAN	regulatory factor X1	9					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			lung(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			ggctgCCTGTAGCTCAGTATA	0.219													G	14104630	A	G	14104630	3	3	27	1	0	0	0	0	1	0	0	0	13262	420	15	3	2993	3	RFX1	19	14104630	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	37416	14104630	45024353	7617	31568											
PRKACA	5566	broad.mit.edu	37	chr19	14208462	14208462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagtgcggcccttcacgcGcttggcgaaaccgaagtctg	12	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:14208462G>A	uc002myc.2	-	7	771	c.571C>T	c.(571-573)CGC>TGC	p.R191C	PRKACA_uc002myb.2_Missense_Mutation_p.R183C|PRKACA_uc010xnm.1_Missense_Mutation_p.R133C|PRKACA_uc002myd.2_Missense_Mutation_p.R133C	NM_002730	NP_002721	P17612	KAPCA_HUMAN	cAMP-dependent protein kinase catalytic subunit	191	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			lung(1)	1						CCCTTCACGCGCTTGGCGAAA	0.652													A	14208462	G	A	14208462	3	1	27	1	0	0	0	0	1	0	0	0	12497	1087	38	1	500	1	PRKACA	19	14208462	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	103832	14208462	44920521	7618	31569											
LPHN1	22859	broad.mit.edu	37	chr19	14266222	14266222	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaagaccccctggaaggcGttgaaggtggtgaagagata	15	6	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:14266222G>A	uc010xnn.1	-	19	3554	c.3258C>T	c.(3256-3258)AAC>AAT	p.N1086N	LPHN1_uc010xno.1_Silent_p.N1081N|uc002myf.2_RNA	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	1086	Helical; Name=7; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						CCTGGAAGGCGTTGAAGGTGG	0.587													A	14266222	G	A	14266222	2	1	27	1	0	0	0	0	0	0	0	1	8915	1136	40	1		1	LPHN1	19	14266222	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	57760	14266222	44862761	7619	31570											
LPHN1	22859	broad.mit.edu	37	chr19	14266323	14266323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaacagcagcgcgatggCccccagcgcccaggatctgg	14	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:14266323C>T	uc010xnn.1	-	19	3453	c.3157G>A	c.(3157-3159)GCC>ACC	p.A1053T	LPHN1_uc010xno.1_Missense_Mutation_p.A1048T|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	1053	Helical; Name=6; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						AGCGCGATGGCCCCCAGCGCC	0.652													T	14266323	C	T	14266323	3	4	27	1	0	0	0	0	1	0	0	0	8915	739	26	2	1291	2	LPHN1	19	14266323	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	101	14266323	44862660	7620	31571											
LPHN1	22859	broad.mit.edu	37	chr19	14273431	14273431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaccagcactggggtcGggcggcccgaactccaggct	13	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:14273431G>A	uc010xnn.1	-	6	1493	c.1197C>T	c.(1195-1197)CCC>CCT	p.P399P	LPHN1_uc010xno.1_Silent_p.P394P|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	399	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						CACTGGGGTCGGGCGGCCCGA	0.622													A	14273431	G	A	14273431	2	1	27	1	0	0	0	0	0	0	0	1	8915	1103	39	1		1	LPHN1	19	14273431	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	7108	14273431	44855552	7621	31572											
LPHN1	22859	broad.mit.edu	37	chr19	14288424	14288424	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagcatcgcaaatcttgTcgtccgtgcgcccgtagttg	12	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:14288424T>A	uc010xnn.1	-	3	499	c.203A>T	c.(202-204)GAC>GTC	p.D68V	LPHN1_uc010xno.1_Missense_Mutation_p.D68V	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	68	SUEL-type lectin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						GCAAATCTTGTCGTCCGTGCG	0.607													A	14288424	T	A	14288424	3	1	27	1	0	0	0	0	1	0	0	0	8915	1667	58	5	4309	5	LPHN1	19	14288424	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	14993	14288424	44840559	7622	31573											
CD97	976	broad.mit.edu	37	chr19	14517536	14517536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttggactttgagcagggCttcctctggagcttcttggg	15	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:14517536C>T	uc002myl.2	+	16	2196	c.2073C>T	c.(2071-2073)GGC>GGT	p.G691G	CD97_uc002mym.2_Silent_p.G642G|CD97_uc002myn.2_Silent_p.G598G	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	691	Extracellular (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)|breast(1)	4						TTGAGCAGGGCTTCCTCTGGA	0.632											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	14517536	C	T	14517536	2	4	27	1	0	0	0	0	0	0	0	1	3049	784	28	2		2	CD97	19	14517536	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	229112	14517536	44611447	7623	31574											
PKN1	5585	broad.mit.edu	37	chr19	14554388	14554388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgagctgaaggtgaagcaGggggcggagaacatgatcca	16	6	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:14554388G>A	uc002myp.2	+	3	597	c.429G>A	c.(427-429)CAG>CAA	p.Q143Q	PKN1_uc002myq.2_Silent_p.Q149Q	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	143	REM 2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						AGGTGAAGCAGGGGGCGGAGA	0.627													A	14554388	G	A	14554388	2	1	27	1	0	0	0	0	0	0	0	1	11979	991	35	4		4	PKN1	19	14554388	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	36852	14554388	44574595	7624	31575											
EMR2	30817	broad.mit.edu	37	chr19	14877148	14877148	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacgttgttgaggcagtggGtggagctgtggcatgggttt	18	6	0	1	rs61732009	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:14877148G>T	uc002mzp.1	-	7	989	c.533C>A	c.(532-534)ACC>AAC	p.T178N	EMR2_uc010dzs.1_5'Flank|EMR2_uc010xnw.1_Missense_Mutation_p.T178N|EMR2_uc002mzo.1_Missense_Mutation_p.T178N|EMR2_uc002mzq.1_Intron|EMR2_uc002mzr.1_Intron|EMR2_uc002mzs.1_Intron|EMR2_uc002mzt.1_Intron|EMR2_uc002mzu.1_Intron|EMR2_uc010xnx.1_Intron|EMR2_uc010xny.1_Intron	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	178	EGF-like 4; calcium-binding (Potential).|Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4						GAGGCAGTGGGTGGAGCTGTG	0.607													T	14877148	G	T	14877148	3	4	27	1	0	0	0	0	1	0	0	0	5105	1261	44	5	1998	5	EMR2	19	14877148	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	322760	14877148	44251835	7625	31576											
SYDE1	85360	broad.mit.edu	37	chr19	15224405	15224405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacaatctccagatgtcgcGccttacttgcgacccaaacg	8	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:15224405G>A	uc002nah.1	+	8	1870	c.1839G>A	c.(1837-1839)GCG>GCA	p.A613A	SYDE1_uc002nai.1_Silent_p.A546A|SYDE1_uc002naj.1_Silent_p.A270A	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1	613					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|pancreas(1)	2						CAGATGTCGCGCCTTACTTGC	0.637													A	15224405	G	A	15224405	2	1	27	1	0	0	0	0	0	0	0	1	15432	1074	38	1		1	SYDE1	19	15224405	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	347257	15224405	43904578	7626	31577											
NOTCH3	4854	broad.mit.edu	37	chr19	15281259	15281259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtgctcgcgcttgcgcCgggccaccatgacacccagg	13	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:15281259C>T	uc002nan.2	-	27	5073	c.4997G>A	c.(4996-4998)CGG>CAG	p.R1666Q		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1666	Cytoplasmic (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCGCTTGCGCCGGGCCACCAT	0.677													T	15281259	C	T	15281259	3	4	27	1	0	0	0	0	1	0	0	0	10550	652	23	1	1996	1	NOTCH3	19	15281259	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	56854	15281259	43847724	7627	31578											
NOTCH3	4854	broad.mit.edu	37	chr19	15298066	15298066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggcacatgagaagctggCgatgccatccacgcagcgac	12	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:15298066C>T	uc002nan.2	-	11	1766	c.1690G>A	c.(1690-1692)GCC>ACC	p.A564T	NOTCH3_uc002nao.1_Missense_Mutation_p.A564T	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	564	Extracellular (Potential).|EGF-like 14; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GAGAAGCTGGCGATGCCATCC	0.652													T	15298066	C	T	15298066	3	4	27	1	0	0	0	0	1	0	0	0	10550	768	27	1	5367	1	NOTCH3	19	15298066	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	16807	15298066	43830917	7628	31579											
EPHX3	79852	broad.mit.edu	37	chr19	15342831	15342831	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggggtcgctcaggcaggcGggggacgcgctccgacggcg	21	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:15342831G>A	uc002nap.2	-	1	401	c.192C>T	c.(190-192)CCC>CCT	p.P64P	EPHX3_uc002naq.2_Silent_p.P64P	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	abhydrolase domain containing 9 precursor	64						extracellular region	hydrolase activity				0						TCAGGCAGGCGGGGGACGCGC	0.746													A	15342831	G	A	15342831	2	1	27	1	0	0	0	0	0	0	0	1	5181	1103	39	1		1	EPHX3	19	15342831	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	44765	15342831	43786152	7629	31580											
BRD4	23476	broad.mit.edu	37	chr19	15366170	15366170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctccagctcacgcagtgtgGacggcttcagggtctcaaag	13	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:15366170G>A	uc002nar.2	-	10	2207	c.1985C>T	c.(1984-1986)TCC>TTC	p.S662F	BRD4_uc002nas.2_Missense_Mutation_p.S662F|BRD4_uc002nat.3_Missense_Mutation_p.S662F	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	662					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)			ACGCAGTGTGGACGGCTTCAG	0.577			T	NUT|C15orf55	lethal midline carcinoma of young people								A	15366170	G	A	15366170	3	1	27	1	0	0	0	0	1	0	0	0	1504	1174	41	4	2162	4	BRD4	19	15366170	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	23339	15366170	43762813	7630	31581											
BRD4	23476	broad.mit.edu	37	chr19	15376396	15376396	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctgaggggtctgggtctgCggaggagtcgatgcttgagt	20	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:15376396C>A	uc002nar.2	-	5	840	c.618G>T	c.(616-618)CCG>CCT	p.P206P	BRD4_uc002nas.2_Silent_p.P206P|BRD4_uc002nat.3_Silent_p.P206P|BRD4_uc002nau.3_Silent_p.P206P	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	206					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)			TCTGGGTCTGCGGAGGAGTCG	0.577			T	NUT|C15orf55	lethal midline carcinoma of young people								A	15376396	C	A	15376396	2	1	27	1	0	0	0	0	0	0	0	1	1504	755	27	5		5	BRD4	19	15376396	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	10226	15376396	43752587	7631	31582											
AKAP8L	26993	broad.mit.edu	37	chr19	15512058	15512058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagccgcccgggaaggcgCccccacctcgcatgccctgg	15	18	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:15512058C>T	uc002naw.1	-	5	818	c.719G>A	c.(718-720)GGC>GAC	p.G240D	AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Missense_Mutation_p.G179D|AKAP8L_uc002nay.1_Missense_Mutation_p.G240D|AKAP8L_uc002naz.2_Missense_Mutation_p.G88D	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	240						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			ovary(1)	1						CGGGAAGGCGCCCCCACCTCG	0.647													T	15512058	C	T	15512058	3	4	27	1	0	0	0	0	1	0	0	0	458	739	26	2	1261	2	AKAP8L	19	15512058	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	135662	15512058	43616925	7632	31583											
WIZ	58525	broad.mit.edu	37	chr19	15535436	15535436	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcactcactgttgatgttctGccgctggtgctcctcagcct	10	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:15535436G>C	uc002nbc.2	-	6	2562	c.2539C>G	c.(2539-2541)CAG>GAG	p.Q847E	WIZ_uc002nba.3_Missense_Mutation_p.Q714E|WIZ_uc002nbb.3_Missense_Mutation_p.Q673E	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	1530						nucleus	zinc ion binding				0						TTGATGTTCTGCCGCTGGTGC	0.711													C	15535436	G	C	15535436	3	2	27	1	0	0	0	0	1	0	0	0	17372	1328	46	5	379	5	WIZ	19	15535436	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	23378	15535436	43593547	7633	31584											
RASAL3	64926	broad.mit.edu	37	chr19	15562668	15562668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttgactccaagacccccGcgtccttggagaaagctgca	12	13	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:15562668G>A	uc002nbe.2	-	18	3060	c.2974C>T	c.(2974-2976)CGG>TGG	p.R992W	WIZ_uc002nbb.3_5'Flank|RASAL3_uc002nbd.2_3'UTR|RASAL3_uc010eaa.1_Missense_Mutation_p.R406W	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	992					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity				0						CAAGACCCCCGCGTCCTTGGA	0.602													A	15562668	G	A	15562668	3	1	27	1	0	0	0	0	1	0	0	0	13065	1086	38	1	65	1	RASAL3	19	15562668	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	27232	15562668	43566315	7634	31585											
RASAL3	64926	broad.mit.edu	37	chr19	15562916	15562916	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctctgaatcaaactctgaGctcctgtgggggtcggggga	15	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:15562916G>T	uc002nbe.2	-	17	2918	c.2832C>A	c.(2830-2832)AGC>AGA	p.S944R	WIZ_uc002nbb.3_5'Flank|RASAL3_uc002nbd.2_3'UTR|RASAL3_uc010eaa.1_Intron	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	944	Potential.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity				0						CAAACTCTGAGCTCCTGTGGG	0.602													T	15562916	G	T	15562916	3	4	27	1	0	0	0	0	1	0	0	0	13065	962	34	5	211	5	RASAL3	19	15562916	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	248	15562916	43566067	7635	31586											
RASAL3	64926	broad.mit.edu	37	chr19	15566970	15566970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctgttccgaagtctggCctggtgctctggcagctccg	14	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:15566970C>T	uc002nbe.2	-	11	1752	c.1666G>A	c.(1666-1668)GCC>ACC	p.A556T	RASAL3_uc002nbd.2_5'Flank|RASAL3_uc010eaa.1_Missense_Mutation_p.A44T	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	556	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity				0						CGAAGTCTGGCCTGGTGCTCT	0.582													T	15566970	C	T	15566970	3	4	27	1	0	0	0	0	1	0	0	0	13065	739	26	2	1401	2	RASAL3	19	15566970	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4054	15566970	43562013	7636	31587											
PGLYRP2	114770	broad.mit.edu	37	chr19	15587373	15587373	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcactttctgctccagCtcagccagggcctggatgac	12	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:15587373C>T	uc002nbf.3	-	2	241	c.108G>A	c.(106-108)GAG>GAA	p.E36E	PGLYRP2_uc002nbg.3_Silent_p.E36E	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	36					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)	3						TCTGCTCCAGCTCAGCCAGGG	0.597													T	15587373	C	T	15587373	2	4	27	1	0	0	0	0	0	0	0	1	11794	796	28	2		2	PGLYRP2	19	15587373	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	20403	15587373	43541610	7637	31588											
CHERP	10523	broad.mit.edu	37	chr19	16633994	16633994	+	Frame_Shift_Del	DEL	G	G	-													gggctgcccgttgaagccatGggggggagggccgaagtcag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:16633993_16633993TG>T	uc002nei.1	-	10	1924	c.1850_1850CA>A	c.(1849-1851)catfs	p.H617fs	MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_Frame_Shift_Del_p.H156fs	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	617	Pro-rich.				RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GTTGAAGCCATGGGGGGGAGG	0.672													-	16633994	G	-	16633994	7	5	27	1	0	1	0	1	0	0	0	0	3336	1348	47	0	929	0	CHERP	19	16633994	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	1046621	16633994	42494989	7638	31589											
MED26	9441	broad.mit.edu	37	chr19	16686957	16686957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgacacccgttcacccCcggccactggctggcctgga	11	18	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:16686957C>T	uc002nen.1	-	3	1945	c.1684G>A	c.(1684-1686)GGG>AGG	p.G562R	MED26_uc002nee.2_Intron	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	562					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			ovary(2)	2						CCGTTCACCCCCGGCCACTGG	0.632													T	16686957	C	T	16686957	3	4	27	1	0	0	0	0	1	0	0	0	9444	623	22	4	122	4	MED26	19	16686957	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	52963	16686957	42442026	7639	31590											
TMEM38A	79041	broad.mit.edu	37	chr19	16790815	16790815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagtcgaactgtcccggCgccaccccatcgcgtcctgg	12	17	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:16790815C>T	uc002nes.2	+	2	236	c.145C>T	c.(145-147)CGC>TGC	p.R49C		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	49	Lumenal (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|ovary(1)	3						ACTGTCCCGGCGCCACCCCAT	0.602													T	16790815	C	T	16790815	3	4	27	1	0	0	0	0	1	0	0	0	16156	768	27	1	151	1	TMEM38A	19	16790815	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	103858	16790815	42338168	7640	31591											
NWD1	284434	broad.mit.edu	37	chr19	16910714	16910714	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggtgtggagtctgtcagaAcaggggacccttctggacat	14	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:16910714A>T	uc002neu.3	+	17	3899	c.3477A>T	c.(3475-3477)GAA>GAT	p.E1159D	NWD1_uc002net.3_Missense_Mutation_p.E1024D|NWD1_uc002nev.3_Missense_Mutation_p.E953D			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	1159	WD 8.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7						GTCTGTCAGAACAGGGGACCC	0.572													T	16910714	A	T	16910714	3	4	27	1	0	0	0	0	1	0	0	0	10781	40	2	5	3122	5	NWD1	19	16910714	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	119899	16910714	42218269	7641	31592											
NWD1	284434	broad.mit.edu	37	chr19	16910875	16910875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcctgcaccatttctggAccgcaccggcctcaccgcag	11	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:16910875A>G	uc002neu.3	+	17	4060	c.3638A>G	c.(3637-3639)GAC>GGC	p.D1213G	NWD1_uc002net.3_Missense_Mutation_p.D1078G|NWD1_uc002nev.3_Missense_Mutation_p.D1007G			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	1213	WD 10.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7						CCATTTCTGGACCGCACCGGC	0.552													G	16910875	A	G	16910875	3	3	27	1	0	0	0	0	1	0	0	0	10781	275	10	3	3283	3	NWD1	19	16910875	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	161	16910875	42218108	7642	31593											
SIN3B	23309	broad.mit.edu	37	chr19	16989146	16989146	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactcacaagatggtgttcaTcgtgaactccgaggactaca	9	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:16989146T>C	uc002ney.1	+	19	3217	c.3203T>C	c.(3202-3204)ATC>ACC	p.I1068T	SIN3B_uc002nez.1_Missense_Mutation_p.I1036T|SIN3B_uc010xpi.1_Missense_Mutation_p.I626T|SIN3B_uc010eaj.1_Missense_Mutation_p.I4T	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	1068					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						ATGGTGTTCATCGTGAACTCC	0.672													C	16989146	T	C	16989146	3	2	27	1	0	0	0	0	1	0	0	0	14326	1435	50	3	3277	3	SIN3B	19	16989146	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	78271	16989146	42139837	7643	31594											
CPAMD8	27151	broad.mit.edu	37	chr19	17007077	17007077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcctgctgtaaaggccccGgggccacagaagccaggtca	13	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:17007077G>A	uc002nfb.2	-	41	5509	c.5477C>T	c.(5476-5478)CCG>CTG	p.P1826L	CPAMD8_uc010xpj.1_5'UTR|CPAMD8_uc002nfd.1_Missense_Mutation_p.P291L	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1779						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TAAAGGCCCCGGGGCCACAGA	0.677													A	17007077	G	A	17007077	3	1	27	1	0	0	0	0	1	0	0	0	3795	1116	39	1	329	1	CPAMD8	19	17007077	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	17931	17007077	42121906	7644	31595											
CPAMD8	27151	broad.mit.edu	37	chr19	17088263	17088263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacgtagaagaccagcaggCgaccaagggggaccatgctg	15	10	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:17088263C>T	uc002nfb.2	-	15	1846	c.1814G>A	c.(1813-1815)CGC>CAC	p.R605H		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	558						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.R605H(1)		ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						GACCAGCAGGCGACCAAGGGG	0.592													T	17088263	C	T	17088263	3	4	27	1	0	0	0	0	1	0	0	0	3795	768	27	1	4096	1	CPAMD8	19	17088263	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	81186	17088263	42040720	7645	31596											
OCEL1	79629	broad.mit.edu	37	chr19	17337542	17337542	+	Frame_Shift_Del	DEL	C	C	-													gccgcgcgcgggacacgacgCcccccgcaggacccgcccat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:17337542delC	uc002nfp.2	+	2	112	c.110delC	c.(109-111)GCCfs	p.A37fs		NM_024578	NP_078854	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	37	Pro-rich.									central_nervous_system(1)	1						GGACACGACGCCCCCCGCAGG	0.756													-	17337542	C	-	17337542	7	5	27	1	0	1	0	1	0	0	0	0	10816	739	26	0	116	0	OCEL1	19	17337542	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	249279	17337542	41791441	7646	31597											
PLVAP	83483	broad.mit.edu	37	chr19	17487970	17487970	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catagaccatgaagagcacgAgccccaggatgatgaggaat	12	9	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:17487970A>G	uc002ngk.1	-	1	178	c.128T>C	c.(127-129)CTC>CCC	p.L43P		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	43	Helical; Signal-anchor for type II membrane protein; (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						GAAGAGCACGAGCCCCAGGAT	0.612													G	17487970	A	G	17487970	3	3	27	1	0	0	0	0	1	0	0	0	12116	304	11	3	1224	3	PLVAP	19	17487970	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	150428	17487970	41641013	7647	31598											
GLT25D1	79709	broad.mit.edu	37	chr19	17679355	17679355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgcctacatccctatccGcaagcgagaccgccggggct	10	17	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:17679355G>A	uc002nhc.1	+	5	674	c.662G>A	c.(661-663)CGC>CAC	p.R221H	GLT25D1_uc010eax.1_5'UTR	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	glycosyltransferase 25 domain containing 1	221					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity				0						ATCCCTATCCGCAAGCGAGAC	0.612													A	17679355	G	A	17679355	3	1	27	1	0	0	0	0	1	0	0	0	6466	1087	38	1	680	1	GLT25D1	19	17679355	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	191385	17679355	41449628	7648	31599											
UNC13A	23025	broad.mit.edu	37	chr19	17743650	17743650	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccgtcacatactcattgtaGagccatttcaccttgaagtg	7	11	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:17743650G>T	uc002nhd.2	-	28	3633	c.3633C>A	c.(3631-3633)CTC>CTA	p.L1211L		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	1123	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						ACTCATTGTAGAGCCATTTCA	0.557													T	17743650	G	T	17743650	2	4	27	1	0	0	0	0	0	0	0	1	16981	929	33	5		5	UNC13A	19	17743650	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	64295	17743650	41385333	7649	31600											
UNC13A	23025	broad.mit.edu	37	chr19	17759367	17759367	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcgtagcagtaggtgggCgtggtggccgtccacacttc	14	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:17759367C>T	uc002nhd.2	-	16	1953	c.1953G>A	c.(1951-1953)ACG>ACA	p.T651T		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	563	Phorbol-ester/DAG-type.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						AGTAGGTGGGCGTGGTGGCCG	0.607													T	17759367	C	T	17759367	2	4	27	1	0	0	0	0	0	0	0	1	16981	755	27	1		1	UNC13A	19	17759367	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	15717	17759367	41369616	7650	31601											
UNC13A	23025	broad.mit.edu	37	chr19	17774358	17774358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgtgctgctcaccccagCcaaaataattccagttgcct	6	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:17774358C>T	uc002nhd.2	-	9	806	c.806G>A	c.(805-807)GGC>GAC	p.G269D		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	181					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						CTCACCCCAGCCAAAATAATT	0.542													T	17774358	C	T	17774358	3	4	27	1	0	0	0	0	1	0	0	0	16981	739	26	2	4709	2	UNC13A	19	17774358	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	14991	17774358	41354625	7651	31602											
UNC13A	23025	broad.mit.edu	37	chr19	17780379	17780379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctaagggtagctcaaagCgcgtgtccaggaggatgcgg	15	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:17780379C>T	uc002nhd.2	-	6	641	c.641G>A	c.(640-642)CGC>CAC	p.R214H		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	126					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						TAGCTCAAAGCGCGTGTCCAG	0.612													T	17780379	C	T	17780379	3	4	27	1	0	0	0	0	1	0	0	0	16981	768	27	1	4886	1	UNC13A	19	17780379	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6021	17780379	41348604	7652	31603											
MAP1S	55201	broad.mit.edu	37	chr19	17845130	17845130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccatgcatacgtggtacGcagagacgcacgcccggcac	13	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:17845130G>A	uc002nhe.1	+	7	3082	c.3073G>A	c.(3073-3075)GCA>ACA	p.A1025T	MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Missense_Mutation_p.A273T|MAP1S_uc010xpv.1_Missense_Mutation_p.A999T	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	1025	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						TACGTGGTACGCAGAGACGCA	0.652													A	17845130	G	A	17845130	3	1	27	1	0	0	0	0	1	0	0	0	9234	1087	38	1	3099	1	MAP1S	19	17845130	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	64751	17845130	41283853	7653	31604											
JAK3	3718	broad.mit.edu	37	chr19	17943652	17943652	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcctcgaagatcgtggggtCttggcaggcatagagctggg	16	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:17943652C>T	uc002nhn.3	-	18	2537	c.2437G>A	c.(2437-2439)GAC>AAC	p.D813N	JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Missense_Mutation_p.D813N	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	813					B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						ATCGTGGGGTCTTGGCAGGCA	0.622		2	Mis		acute megakaryocytic leukemia|								T	17943652	C	T	17943652	3	4	27	1	0	0	0	0	1	0	0	0	7939	913	32	4	965	4	JAK3	19	17943652	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	98522	17943652	41185331	7654	31605											
SLC5A5	6528	broad.mit.edu	37	chr19	17988883	17988883	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgaccctctcctcctggggcGcatctctgccccagaccagg	10	19	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:17988883G>T	uc002nhr.3	+	7	1297	c.950G>T	c.(949-951)CGC>CTC	p.R317L		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium iodide	317	Extracellular (Potential).				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4						CTCCTGGGGCGCATCTCTGCC	0.498													T	17988883	G	T	17988883	3	4	27	1	0	0	0	0	1	0	0	0	14668	1087	38	5	976	5	SLC5A5	19	17988883	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	45231	17988883	41140100	7655	31606											
PDE4C	5143	broad.mit.edu	37	chr19	18329232	18329232	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggccacattggcgtggTagtgaccttccagcatcagc	13	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:18329232T>C	uc010xqc.1	-	10	1622	c.1142A>G	c.(1141-1143)TAC>TGC	p.Y381C	PDE4C_uc002nik.3_Missense_Mutation_p.Y381C|PDE4C_uc002nil.3_Missense_Mutation_p.Y381C|PDE4C_uc002nif.3_Missense_Mutation_p.Y150C|PDE4C_uc002nig.3_Intron|PDE4C_uc002nih.3_Missense_Mutation_p.Y151C|PDE4C_uc010ebk.2_Missense_Mutation_p.Y275C|PDE4C_uc002nii.3_Missense_Mutation_p.Y349C|PDE4C_uc010ebl.2_Missense_Mutation_p.Y95C|PDE4C_uc010xqd.1_Missense_Mutation_p.Y150C	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	phosphodiesterase 4C isoform PDE4C-2	381					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|skin(2)|central_nervous_system(1)	5					Dyphylline(DB00651)	ATTGGCGTGGTAGTGACCTTC	0.622													C	18329232	T	C	18329232	3	2	27	1	0	0	0	0	1	0	0	0	11641	1638	57	3	1020	3	PDE4C	19	18329232	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	340349	18329232	40799751	7656	31607											
ISYNA1	51477	broad.mit.edu	37	chr19	18547813	18547813	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcgttgggcgccaccaTgggcagcaccgcgctgaagg	17	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:18547813T>G	uc002njd.1	-	4	435	c.385A>C	c.(385-387)ATG>CTG	p.M129L	ISYNA1_uc002nja.1_Missense_Mutation_p.M1L|ISYNA1_uc002njb.1_5'UTR|ISYNA1_uc002njc.1_Intron|ISYNA1_uc010xqh.1_5'UTR|ISYNA1_uc002nje.1_Missense_Mutation_p.M75L|ISYNA1_uc002njf.1_Intron	NM_016368	NP_057452	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	129					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			ovary(1)|pancreas(1)	2						GGCGCCACCATGGGCAGCACC	0.711													G	18547813	T	G	18547813	3	3	27	1	0	0	0	0	1	0	0	0	7867	1464	51	5	1323	5	ISYNA1	19	18547813	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	218581	18547813	40581170	7657	31608											
CRLF1	9244	broad.mit.edu	37	chr19	18707568	18707568	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtttcaggccggccaggcgGcaggaggtctggttgctcac	17	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:18707568G>T	uc010ebt.1	-	6	1082	c.888C>A	c.(886-888)TGC>TGA	p.C296*		NM_004750	NP_004741	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1 precursor	296	Fibronectin type-III 2.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(1)	1						CGGCCAGGCGGCAGGAGGTCT	0.423													T	18707568	G	T	18707568	4	4	27	1	0	0	0	0	0	1	0	0	3886	1195	42	5	396	5	CRLF1	19	18707568	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	159755	18707568	40421415	7658	31609											
CRTC1	23373	broad.mit.edu	37	chr19	18876229	18876229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaggaatgagcacacctgGctcctctccacagcaccgcc	8	17	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:18876229G>A	uc002nkb.3	+	9	990	c.902G>A	c.(901-903)GGC>GAC	p.G301D	CRTC1_uc010ebv.2_Missense_Mutation_p.G317D|CRTC1_uc010ebw.2_Missense_Mutation_p.G166D|CRTC1_uc002nkc.3_Missense_Mutation_p.G166D	NM_015321	NP_056136	Q6UUV9	CRTC1_HUMAN	mucoepidermoid carcinoma translocated 1 isoform	301	Ser-rich.				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519						AGCACACCTGGCTCCTCTCCA	0.622													A	18876229	G	A	18876229	3	1	27	1	0	0	0	0	1	0	0	0	3899	1203	42	2	988	2	CRTC1	19	18876229	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	168661	18876229	40252754	7659	31610											
UPF1	5976	broad.mit.edu	37	chr19	18965708	18965708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcagagcgcattgaaaaCgtttgccgtggatgagacct	13	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:18965708C>T	uc002nkg.2	+	10	1594	c.1319C>T	c.(1318-1320)ACG>ATG	p.T440M	UPF1_uc002nkf.2_Missense_Mutation_p.T429M	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	440					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	p.T429M(1)		ovary(1)|central_nervous_system(1)	2						GCATTGAAAACGTTTGCCGTG	0.592													T	18965708	C	T	18965708	3	4	27	1	0	0	0	0	1	0	0	0	17000	536	19	1	1324	1	UPF1	19	18965708	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	89479	18965708	40163275	7660	31611											
HOMER3	9454	broad.mit.edu	37	chr19	19040352	19040352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccggcccacctcagccCgcgcccgctcccgctctgcc	9	25	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:19040352C>T	uc002nku.2	-	9	1639	c.986G>A	c.(985-987)CGG>CAG	p.R329Q	HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|HOMER3_uc010eby.2_Missense_Mutation_p.R293Q|HOMER3_uc010ebz.2_Missense_Mutation_p.R329Q|HOMER3_uc002nkw.2_Missense_Mutation_p.R326Q|HOMER3_uc002nkv.2_Missense_Mutation_p.R329Q	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Homer, neuronal immediate early gene, 3 isoform	329	Potential.				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding				0			Epithelial(12;0.0107)			CACCTCAGCCCGCGCCCGCTC	0.716													T	19040352	C	T	19040352	3	4	27	1	0	0	0	0	1	0	0	0	7280	652	23	1	103	1	HOMER3	19	19040352	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	74644	19040352	40088631	7661	31612											
SFRS14	10147	broad.mit.edu	37	chr19	19120711	19120711	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaggtgcttcagagatgTccactcctgctggcttgggg	14	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:19120711T>C	uc002nkx.2	-	5	2437	c.2291A>G	c.(2290-2292)GAC>GGC	p.D764G	SFRS14_uc002nkz.1_Missense_Mutation_p.D778G|SFRS14_uc002nla.1_Missense_Mutation_p.D764G|SFRS14_uc002nlb.2_Missense_Mutation_p.D764G|SFRS14_uc010xqk.1_Missense_Mutation_p.D533G	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	764	Pro/Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)			TTCAGAGATGTCCACTCCTGC	0.612													C	19120711	T	C	19120711	3	2	27	1	0	0	0	0	1	0	0	0	14170	1667	58	3	981	3	SFRS14	19	19120711	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	80359	19120711	40008272	7662	31613											
TMEM161A	54929	broad.mit.edu	37	chr19	19231817	19231817	+	Frame_Shift_Del	DEL	C	C	-													ataccctctgctggatttcaCgggcttcgatgcggccagcc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:19231816_19231816AC>A	uc002nlg.3	-	9	1104	c.1074_1074GT>T	c.(1072-1074)cgtfs	p.R358fs	TMEM161A_uc002nli.3_Frame_Shift_Del_p.R255fs	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	Homo sapiens transmembrane protein 161A (TMEM161A), mRNA.	358					cellular response to UV|cellular response to oxidative stress|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			GCTGGATTTCACGGGCTTCGA	0.682													-	19231817	C	-	19231817	7	5	27	1	0	1	0	1	0	0	0	0	16073	536	19	0	378	0	TMEM161A	19	19231817	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	111106	19231817	39897166	7663	31614											
RFXANK	8625	broad.mit.edu	37	chr19	19308333	19308333	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctcctcctgccaggtgAcaacctcgtcaacaagccag	8	18	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:19308333A>G	uc002nls.2	+	6	846	c.341A>G	c.(340-342)GAC>GGC	p.D114G	RFXANK_uc002nlt.2_Missense_Mutation_p.D91G|RFXANK_uc002nlu.2_Missense_Mutation_p.D92G|RFXANK_uc002nlv.2_Missense_Mutation_p.D114G|RFXANK_uc002nlw.2_Missense_Mutation_p.D113G	NM_003721	NP_003712	O14593	RFXK_HUMAN	regulatory factor X-associated	114	ANK 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(2)	2			Epithelial(12;0.00228)			CTGCCAGGTGACAACCTCGTC	0.642													G	19308333	A	G	19308333	3	3	27	1	0	0	0	0	1	0	0	0	13269	275	10	3	355	3	RFXANK	19	19308333	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	76516	19308333	39820650	7664	31615											
HAPLN4	404037	broad.mit.edu	37	chr19	19371751	19371751	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccccaggcccgtcgccctGcagctcagcccgcccacggt	10	21	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:19371751G>A	uc002nmb.2	-	3	410	c.355C>T	c.(355-357)CAG>TAG	p.Q119*	HAPLN4_uc002nmc.2_Nonsense_Mutation_p.Q119*	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	119	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)			CCGTCGCCCTGCAGCTCAGCC	0.652													A	19371751	G	A	19371751	4	1	27	1	0	0	0	0	0	1	0	0	6957	1328	46	2	865	2	HAPLN4	19	19371751	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	63418	19371751	39757232	7665	31616											
HAPLN4	404037	broad.mit.edu	37	chr19	19371882	19371882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgtcgtgaccgtgggcgGctgcctcatagtggtagcgg	17	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:19371882G>A	uc002nmb.2	-	3	279	c.224C>T	c.(223-225)GCC>GTC	p.A75V	HAPLN4_uc002nmc.2_Missense_Mutation_p.A75V	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	75	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)			ACCGTGGGCGGCTGCCTCATA	0.667													A	19371882	G	A	19371882	3	1	27	1	0	0	0	0	1	0	0	0	6957	1203	42	2	996	2	HAPLN4	19	19371882	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	131	19371882	39757101	7666	31617											
TSSK6	83983	broad.mit.edu	37	chr19	19626044	19626044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgggtgtcgcacgccccGcaggatggacagctctcgcg	16	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:19626044G>A	uc002nmr.2	-	1	426	c.193C>T	c.(193-195)CGG>TGG	p.R65W	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	65	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R65W(1)		stomach(1)	1						CGCACGCCCCGCAGGATGGAC	0.627													A	19626044	G	A	19626044	3	1	27	1	0	0	0	0	1	0	0	0	16669	1086	38	1	632	1	TSSK6	19	19626044	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	254162	19626044	39502939	7667	31618											
CILP2	148113	broad.mit.edu	37	chr19	19655293	19655293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggcatgttctccgtggacCtccgtgcgcccggctccgcg	13	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:19655293C>T	uc002nmv.3	+	8	2024	c.1939C>T	c.(1939-1941)CTC>TTC	p.L647F	CILP2_uc002nmw.3_Missense_Mutation_p.L653F	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	647						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						CTCCGTGGACCTCCGTGCGCC	0.716													T	19655293	C	T	19655293	3	4	27	1	0	0	0	0	1	0	0	0	3430	681	24	4	1969	4	CILP2	19	19655293	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	29249	19655293	39473690	7668	31619											
GMIP	51291	broad.mit.edu	37	chr19	19745618	19745618	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacctcctgaagaaatcgctTgaggacactcgagacgtcat	9	11	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:19745618T>C	uc002nnd.2	-	17	1987	c.1870A>G	c.(1870-1872)AAG>GAG	p.K624E	GMIP_uc010xrb.1_Missense_Mutation_p.K598E|GMIP_uc010xrc.1_Missense_Mutation_p.K595E	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	624	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						AGAAATCGCTTGAGGACACTC	0.647													C	19745618	T	C	19745618	3	2	27	1	0	0	0	0	1	0	0	0	6491	1821	63	3	1062	3	GMIP	19	19745618	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	90325	19745618	39383365	7669	31620											
ATP13A1	57130	broad.mit.edu	37	chr19	19758026	19758026	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaacttgactccctccaggTagaggacgctctggctgtag	12	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:19758026T>C	uc002nnh.3	-	22	3045	c.3017A>G	c.(3016-3018)TAC>TGC	p.Y1006C	ATP13A1_uc002nne.2_Missense_Mutation_p.Y146C|ATP13A1_uc002nnf.3_Missense_Mutation_p.Y374C|ATP13A1_uc002nng.2_Missense_Mutation_p.Y888C	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	1006	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						TCCCTCCAGGTAGAGGACGCT	0.612													C	19758026	T	C	19758026	3	2	27	1	0	0	0	0	1	0	0	0	1123	1638	57	3	617	3	ATP13A1	19	19758026	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	12408	19758026	39370957	7670	31621											
ATP13A1	57130	broad.mit.edu	37	chr19	19766929	19766929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggtgcccccgaagatgaCgtgcagccgggaatcagcct	13	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:19766929C>T	uc002nnh.3	-	8	1175	c.1147G>A	c.(1147-1149)GTC>ATC	p.V383I	ATP13A1_uc002nnf.3_5'Flank|ATP13A1_uc002nng.2_Missense_Mutation_p.V265I	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	383	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						CCGAAGATGACGTGCAGCCGG	0.642													T	19766929	C	T	19766929	3	4	27	1	0	0	0	0	1	0	0	0	1123	536	19	1	2543	1	ATP13A1	19	19766929	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	8903	19766929	39362054	7671	31622											
ZNF101	94039	broad.mit.edu	37	chr19	19790305	19790305	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaactcgaaagagaccttaTgaatgcaaggtgtgcgggaa	12	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:19790305T>C	uc002nni.1	+	4	617	c.507T>C	c.(505-507)TAT>TAC	p.Y169Y	ZNF101_uc010ecg.1_Silent_p.Y49Y|ZNF101_uc002nnj.1_Silent_p.Y49Y	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	zinc finger protein 101	169	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						AGAGACCTTATGAATGCAAGG	0.458													C	19790305	T	C	19790305	2	2	27	1	0	0	0	0	0	0	0	1	17711	1471	51	3		3	ZNF101	19	19790305	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	23376	19790305	39338678	7672	31623											
ZNF506	440515	broad.mit.edu	37	chr19	19905511	19905511	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcttcacatttgtacggTttctctccagtatgaattat	5	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:19905511T>C	uc010eci.2	-	4	1333	c.1185A>G	c.(1183-1185)AAA>AAG	p.K395K	ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Silent_p.K363K	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	zinc finger protein 506 isoform 1	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding				0						ATTTGTACGGTTTCTCTCCAG	0.378													C	19905511	T	C	19905511	2	2	27	1	0	0	0	0	0	0	0	1	17949	1722	60	3		3	ZNF506	19	19905511	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	115206	19905511	39223472	7673	31624											
ZNF253	56242	broad.mit.edu	37	chr19	20003500	20003500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaacgaaaaccctacataGtgaagaatgtgacagatctt	8	7	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:20003500G>A	uc002noj.2	+	4	1536	c.1444G>A	c.(1444-1446)GTG>ATG	p.V482M	ZNF253_uc002nok.2_Missense_Mutation_p.V406M|ZNF253_uc002nol.2_RNA	NM_021047	NP_066385	O75346	ZN253_HUMAN	zinc finger protein 253	482					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ACCCTACATAGTGAAGAATGT	0.333													A	20003500	G	A	20003500	3	1	27	1	0	0	0	0	1	0	0	0	17794	1029	36	4	1458	4	ZNF253	19	20003500	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	97989	20003500	39125483	7674	31625											
ZNF682	91120	broad.mit.edu	37	chr19	20117228	20117228	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtttctctccgctatgaatTaccttatgttcagtaagaat	7	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:20117228T>C	uc002noq.2	-	4	1206	c.1083A>G	c.(1081-1083)GTA>GTG	p.V361V	ZNF682_uc002noo.2_Silent_p.V329V|ZNF682_uc002nop.2_Silent_p.V329V|ZNF682_uc010eck.2_Silent_p.V285V	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	361	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						CGCTATGAATTACCTTATGTT	0.363													C	20117228	T	C	20117228	2	2	27	1	0	0	0	0	0	0	0	1	18086	1741	61	3		3	ZNF682	19	20117228	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	113728	20117228	39011755	7675	31626											
ZNF682	91120	broad.mit.edu	37	chr19	20117462	20117462	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtcttcacatgtatagggTttttctcctgtatgaatttt	7	7	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:20117462T>G	uc002noq.2	-	4	972	c.849A>C	c.(847-849)AAA>AAC	p.K283N	ZNF682_uc002noo.2_Missense_Mutation_p.K251N|ZNF682_uc002nop.2_Missense_Mutation_p.K251N|ZNF682_uc010eck.2_Missense_Mutation_p.K207N	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						ATGTATAGGGTTTTTCTCCTG	0.403													G	20117462	T	G	20117462	3	3	27	1	0	0	0	0	1	0	0	0	18086	1722	60	5	651	5	ZNF682	19	20117462	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	234	20117462	39011521	7676	31627											
ZNF682	91120	broad.mit.edu	37	chr19	20117540	20117540	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccacattcttcacatttGtagggtttctcaccagtatg	6	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:20117540G>A	uc002noq.2	-	4	894	c.771C>T	c.(769-771)TAC>TAT	p.Y257Y	ZNF682_uc002noo.2_Silent_p.Y225Y|ZNF682_uc002nop.2_Silent_p.Y225Y|ZNF682_uc010eck.2_Silent_p.Y181Y	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	257	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						CTTCACATTTGTAGGGTTTCT	0.388													A	20117540	G	A	20117540	2	1	27	1	0	0	0	0	0	0	0	1	18086	1372	48	4		4	ZNF682	19	20117540	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	78	20117540	39011443	7677	31628											
ZNF626	199777	broad.mit.edu	37	chr19	20808338	20808338	+	Frame_Shift_Del	DEL	T	T	-													tcatccacacttatacatccTttttttaactgtaaattgtc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:20808337_20808337CT>C	uc002npb.1	-	3	496	c.346_346AG>G	c.(346-348)ggafs	p.G116fs	ZNF626_uc002npc.1_Frame_Shift_Del_p.G40fs	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CTTATACATCCTTTTTTTAAC	0.348													-	20808338	T	-	20808338	7	5	27	1	0	1	0	1	0	0	0	0	18047	1606	56	0	1245	0	ZNF626	19	20808338	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	690798	20808338	38320645	7678	31629											
ZNF85	7639	broad.mit.edu	37	chr19	21131805	21131805	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcataaattttcaaattcaaAcagacatgagataagacata	4	6	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:21131805A>G	uc002npg.3	+	4	612	c.485A>G	c.(484-486)AAC>AGC	p.N162S	ZNF85_uc010ecn.2_Missense_Mutation_p.N97S|ZNF85_uc010eco.2_Missense_Mutation_p.N110S|ZNF85_uc002npi.2_Missense_Mutation_p.N103S	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	162	C2H2-type 1; degenerate.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1						TCAAATTCAAACAGACATGAG	0.328													G	21131805	A	G	21131805	3	3	27	1	0	0	0	0	1	0	0	0	18190	43	2	3	499	3	ZNF85	19	21131805	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	323467	21131805	37997178	7679	31630											
ZNF430	80264	broad.mit.edu	37	chr19	21240721	21240721	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taaacataaggtaattcataCtggagagaaaccctacaact	6	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:21240721C>G	uc002npj.2	+	5	1717	c.1607C>G	c.(1606-1608)ACT>AGT	p.T536S	ZNF430_uc002npk.2_Missense_Mutation_p.T535S	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2						GTAATTCATACTGGAGAGAAA	0.358													G	21240721	C	G	21240721	3	3	27	1	0	0	0	0	1	0	0	0	17901	565	20	5	1625	5	ZNF430	19	21240721	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	108916	21240721	37888262	7680	31631											
ZNF708	7562	broad.mit.edu	37	chr19	21477270	21477270	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cattctttacatttgaaaggAttttttccagtatgtcttat	5	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:21477270A>T	uc002npq.1	-	4	696	c.498T>A	c.(496-498)AAT>AAA	p.N166K	ZNF708_uc002npr.1_Missense_Mutation_p.N102K|ZNF708_uc010ecs.1_Missense_Mutation_p.N102K	NM_021269	NP_067092	P17019	ZN708_HUMAN	zinc finger protein 708	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(4)|skin(2)	6						ATTTGAAAGGATTTTTTCCAG	0.328													T	21477270	A	T	21477270	3	4	27	1	0	0	0	0	1	0	0	0	18109	330	12	5	1197	5	ZNF708	19	21477270	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	236549	21477270	37651713	7681	31632											
ZNF493	284443	broad.mit.edu	37	chr19	21607090	21607090	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgattcacactggagaaaaAccctacaaatgtgaagaatg	8	7	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:21607090A>C	uc002npx.2	+	2	1525	c.1245A>C	c.(1243-1245)AAA>AAC	p.K415N	ZNF493_uc002npw.2_Missense_Mutation_p.K543N|ZNF493_uc002npy.2_Missense_Mutation_p.K415N	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 1	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTGGAGAAAAACCCTACAAAT	0.363													C	21607090	A	C	21607090	3	2	27	1	0	0	0	0	1	0	0	0	17941	40	2	5	1706	5	ZNF493	19	21607090	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	129820	21607090	37521893	7682	31633											
ZNF429	353088	broad.mit.edu	37	chr19	21720176	21720176	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacctattcctctacacttActagacataagagaattcat	3	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:21720176A>G	uc002nqd.1	+	4	1458	c.1321A>G	c.(1321-1323)ACT>GCT	p.T441A	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	441	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CTCTACACTTACTAGACATAA	0.378													G	21720176	A	G	21720176	3	3	27	1	0	0	0	0	1	0	0	0	17899	391	14	3	1335	3	ZNF429	19	21720176	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	113086	21720176	37408807	7683	31634											
ZNF100	163227	broad.mit.edu	37	chr19	21909534	21909534	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttattttgtttaataaggCttagggactggttaaagtct	10	3	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:21909534C>A	uc002nqi.2	-	5	1779	c.1580G>T	c.(1579-1581)AGC>ATC	p.S527I	ZNF100_uc002nqh.2_Missense_Mutation_p.S463I	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTTAATAAGGCTTAGGGACTG	0.348													A	21909534	C	A	21909534	3	1	27	1	0	0	0	0	1	0	0	0	17710	797	28	5	52	5	ZNF100	19	21909534	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	189358	21909534	37219449	7684	31635											
ZNF100	163227	broad.mit.edu	37	chr19	21910359	21910359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctccagtatgaattctcCtgtgtgtagtaagggttgag	11	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:21910359C>T	uc002nqi.2	-	5	954	c.755G>A	c.(754-756)AGG>AAG	p.R252K	ZNF100_uc002nqh.2_Missense_Mutation_p.R188K	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	252	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATGAATTCTCCTGTGTGTAGT	0.383													T	21910359	C	T	21910359	3	4	27	1	0	0	0	0	1	0	0	0	17710	681	24	4	877	4	ZNF100	19	21910359	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	825	21910359	37218624	7685	31636											
ZNF43	7594	broad.mit.edu	37	chr19	21991813	21991813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccacattcttcacatgtGtagggtttctctccagtatg	8	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:21991813G>A	uc002nqj.2	-	4	1156	c.1026C>T	c.(1024-1026)TAC>TAT	p.Y342Y	ZNF43_uc010ecv.2_Silent_p.Y336Y|ZNF43_uc002nql.2_Silent_p.Y336Y|ZNF43_uc002nqm.2_Silent_p.Y336Y|ZNF43_uc002nqk.2_Silent_p.Y272Y	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	342	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CTTCACATGTGTAGGGTTTCT	0.383													A	21991813	G	A	21991813	2	1	27	1	0	0	0	0	0	0	0	1	17900	1372	48	4		4	ZNF43	19	21991813	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	81454	21991813	37137170	7686	31637											
ZNF43	7594	broad.mit.edu	37	chr19	22002026	22002026	+	Splice_Site	DEL	A	A	-													cataaatgtcaatggtccctAaaaaaaacaacacatacaca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383													-	22002026	A	-	22002026	8	5	27	1	0	1	0	1	0	0	1	0	17900	377	13	0		0	ZNF43	19	22002026	Splice_Site	DEL	A	TCGA-BR-6452-01A-12D-1800-08	10213	22002026	37126957	7687	31638											
ZNF257	113835	broad.mit.edu	37	chr19	22255727	22255727	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagagaactacagaaacctGgtcttcctgggtgaggataa	11	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:22255727G>A	uc010ecx.2	+	2	289	c.120G>A	c.(118-120)CTG>CTA	p.L40L	ZNF257_uc010ecy.2_Silent_p.L8L	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACAGAAACCTGGTCTTCCTGG	0.368													A	22255727	G	A	22255727	2	1	27	1	0	0	0	0	0	0	0	1	17797	1335	47	4		4	ZNF257	19	22255727	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	253701	22255727	36873256	7688	31639											
ZNF676	163223	broad.mit.edu	37	chr19	22364184	22364184	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catatttgccacattgaaatActttgctctgtgtagttgtt	7	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:22364184A>G	uc002nqs.1	-	3	653	c.335T>C	c.(334-336)GTA>GCA	p.V112A		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACATTGAAATACTTTGCTCTG	0.318													G	22364184	A	G	22364184	3	3	27	1	0	0	0	0	1	0	0	0	18080	391	14	3	1435	3	ZNF676	19	22364184	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	108457	22364184	36764799	7689	31640											
CCNE1	898	broad.mit.edu	37	chr19	30308410	30308410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaacaccctcttctgcagCcaaaaatgcgagcaattctt	6	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:30308410C>T	uc002nsn.2	+	6	607	c.424C>T	c.(424-426)CCA>TCA	p.P142S	CCNE1_uc002nso.2_Missense_Mutation_p.P127S	NM_001238	NP_001229	P24864	CCNE1_HUMAN	cyclin E1 isoform 1	142					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			lung(2)	2	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			TCTTCTGCAGCCAAAAATGCG	0.423													T	30308410	C	T	30308410	3	4	27	1	0	0	0	0	1	0	0	0	2920	739	26	2	442	2	CCNE1	19	30308410	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	7944226	30308410	28820573	7690	31641											
C19orf2	8725	broad.mit.edu	37	chr19	30503413	30503413	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagaaaatcaaaagaaacTtttgcccttatcagtaacac	4	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:30503413T>G	uc002nsr.2	+	10	1430	c.1400T>G	c.(1399-1401)CTT>CGT	p.L467R	C19orf2_uc002nsq.2_Missense_Mutation_p.L449R|C19orf2_uc002nss.2_Missense_Mutation_p.L427R|C19orf2_uc002nst.2_Missense_Mutation_p.L391R	NM_003796	NP_003787	O94763	RMP_HUMAN	RPB5-mediating protein isoform a	467					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)|kidney(1)	2	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)		CAAAAGAAACTTTTGCCCTTA	0.388													G	30503413	T	G	30503413	3	3	27	1	0	0	0	0	1	0	0	0	1911	1609	56	5	1438	5	C19orf2	19	30503413	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	195003	30503413	28625570	7691	31642											
ZNF536	9745	broad.mit.edu	37	chr19	31039501	31039501	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccctcccgggctcctcggTaactgtgcaggacagcattg	11	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:31039501T>C	uc002nsu.1	+	4	3113	c.2975T>C	c.(2974-2976)GTA>GCA	p.V992A	ZNF536_uc010edd.1_Missense_Mutation_p.V992A	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	992					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GGCTCCTCGGTAACTGTGCAG	0.587													C	31039501	T	C	31039501	3	2	27	1	0	0	0	0	1	0	0	0	17971	1638	57	3	2985	3	ZNF536	19	31039501	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	536088	31039501	28089482	7692	31643											
TSHZ3	57616	broad.mit.edu	37	chr19	31769837	31769837	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catatggacactcaaatcctGcagggactcaaaggagtggc	11	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:31769837G>A	uc002nsy.3	-	2	927	c.862C>T	c.(862-864)CAG>TAG	p.Q288*		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	288	C2H2-type 2.				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					CTCAAATCCTGCAGGGACTCA	0.522													A	31769837	G	A	31769837	4	1	27	1	0	0	0	0	0	1	0	0	16622	1328	46	2	2387	2	TSHZ3	19	31769837	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	730336	31769837	27359146	7693	31644											
TSHZ3	57616	broad.mit.edu	37	chr19	31769888	31769888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacttcagcaccttctgggCgtcttccttcccttccattt	6	16	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:31769888C>T	uc002nsy.3	-	2	876	c.811G>A	c.(811-813)GCC>ACC	p.A271T		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	271					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					ACCTTCTGGGCGTCTTCCTTC	0.512													T	31769888	C	T	31769888	3	4	27	1	0	0	0	0	1	0	0	0	16622	768	27	1	2438	1	TSHZ3	19	31769888	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	51	31769888	27359095	7694	31645											
ZNF507	22847	broad.mit.edu	37	chr19	32844939	32844939	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttaacgtgatagtggagcgAttgccaagtgctgaagaaac	13	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:32844939A>G	uc002nte.2	+	3	1475	c.1203A>G	c.(1201-1203)CGA>CGG	p.R401R	ZNF507_uc002ntc.2_Silent_p.R401R|ZNF507_uc010xrn.1_Silent_p.R401R|ZNF507_uc002ntd.2_Silent_p.R401R	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(110;0.162)					TAGTGGAGCGATTGCCAAGTG	0.478													G	32844939	A	G	32844939	2	3	27	1	0	0	0	0	0	0	0	1	17950	320	12	3		3	ZNF507	19	32844939	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1075051	32844939	26284044	7695	31646											
ANKRD27	84079	broad.mit.edu	37	chr19	33117683	33117683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccatggtagtctgtggCatttaccatggcgcccttgg	13	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:33117683C>T	uc002ntn.1	-	16	1627	c.1471G>A	c.(1471-1473)GCC>ACC	p.A491T		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	491	ANK 2.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)					TAGTCTGTGGCATTTACCATG	0.612													T	33117683	C	T	33117683	3	4	27	1	0	0	0	0	1	0	0	0	655	710	25	2	1737	2	ANKRD27	19	33117683	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	272744	33117683	26011300	7696	31647											
GPATCH1	55094	broad.mit.edu	37	chr19	33585162	33585162	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagtaaagagacggccacgCcgacagaaacctggtgtgta	13	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:33585162C>T	uc002nug.1	+	5	854	c.540C>T	c.(538-540)CGC>CGT	p.R180R		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	180	G-patch.					catalytic step 2 spliceosome	nucleic acid binding			skin(1)	1	Esophageal squamous(110;0.137)					GACGGCCACGCCGACAGAAAC	0.348													T	33585162	C	T	33585162	2	4	27	1	0	0	0	0	0	0	0	1	6590	726	26	2		2	GPATCH1	19	33585162	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	467479	33585162	25543821	7697	31648											
WDR88	126248	broad.mit.edu	37	chr19	33623191	33623191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcctgggggaccatggCgagggccttaggccgcttca	16	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:33623191C>T	uc002nui.2	+	1	194	c.116C>T	c.(115-117)GCG>GTG	p.A39V		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	39										ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					GGGACCATGGCGAGGGCCTTA	0.672													T	33623191	C	T	33623191	3	4	27	1	0	0	0	0	1	0	0	0	17332	768	27	1	118	1	WDR88	19	33623191	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	38029	33623191	25505792	7698	31649											
WDR88	126248	broad.mit.edu	37	chr19	33666372	33666372	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatgttcacccaatgcgTgttctgccggatagatacaa	9	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:33666372T>C	uc002nui.2	+	11	1391	c.1313T>C	c.(1312-1314)GTG>GCG	p.V438A		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	438										ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					ACCCAATGCGTGTTCTGCCGG	0.478													C	33666372	T	C	33666372	3	2	27	1	0	0	0	0	1	0	0	0	17332	1696	59	3	1355	3	WDR88	19	33666372	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	43181	33666372	25462611	7699	31650											
KCTD15	79047	broad.mit.edu	37	chr19	34292139	34292139	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccctggctgcccagggcaTccccctgccagcccagctca	9	21	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:34292139T>C	uc002nuy.3	+	4	402	c.134T>C	c.(133-135)ATC>ACC	p.I45T	KCTD15_uc002nuv.2_Missense_Mutation_p.I45T|KCTD15_uc002nuw.3_Missense_Mutation_p.I45T|KCTD15_uc010xrt.1_Missense_Mutation_p.I45T|KCTD15_uc002nux.3_Missense_Mutation_p.I45T	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	45						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)					GCCCAGGGCATCCCCCTGCCA	0.607													C	34292139	T	C	34292139	3	2	27	1	0	0	0	0	1	0	0	0	8102	1435	50	3	140	3	KCTD15	19	34292139	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	625767	34292139	24836844	7700	31651											
KIAA0355	9710	broad.mit.edu	37	chr19	34839981	34839981	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tctgccagctcgagtgatgaGacatcctcagccaacgggga	12	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:34839981G>C	uc002nvd.3	+	12	3607	c.2748G>C	c.(2746-2748)GAG>GAC	p.E916D		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	916										ovary(1)	1	Esophageal squamous(110;0.162)					CGAGTGATGAGACATCCTCAG	0.572													C	34839981	G	C	34839981	3	2	27	1	0	0	0	0	1	0	0	0	8170	933	33	5	2790	5	KIAA0355	19	34839981	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	547842	34839981	24289002	7701	31652											
GPI	2821	broad.mit.edu	37	chr19	34887230	34887230	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatggagtccaatgggaaaTacatcaccaaatctggaacc	8	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:34887230T>C	uc002nvg.1	+	13	1190	c.1087T>C	c.(1087-1089)TAC>CAC	p.Y363H	GPI_uc002nvf.2_Missense_Mutation_p.Y402H|GPI_uc010xrv.1_Missense_Mutation_p.Y374H|GPI_uc010xrw.1_Missense_Mutation_p.Y335H|GPI_uc010edl.1_Missense_Mutation_p.Y363H|GPI_uc002nvi.1_Missense_Mutation_p.Y26H	NM_000175	NP_000166	P06744	G6PI_HUMAN	glucose phosphate isomerase	363					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			ovary(1)|kidney(1)	2	Esophageal squamous(110;0.162)					CAATGGGAAATACATCACCAA	0.438													C	34887230	T	C	34887230	3	2	27	1	0	0	0	0	1	0	0	0	6611	1406	49	3	1258	3	GPI	19	34887230	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	47249	34887230	24241753	7702	31653											
UBA2	10054	broad.mit.edu	37	chr19	34929585	34929585	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatgagtgtcatcctaagccGacccagagaacctttcctgg	9	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:34929585G>A	uc002nvk.2	+	6	565	c.495G>A	c.(493-495)CCG>CCA	p.P165P	UBA2_uc010xrx.1_Silent_p.P38P|UBA2_uc002nvl.2_Silent_p.P69P	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	165					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATCCTAAGCCGACCCAGAGAA	0.403													A	34929585	G	A	34929585	2	1	27	1	0	0	0	0	0	0	0	1	16825	1045	37	1		1	UBA2	19	34929585	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	42355	34929585	24199398	7703	31654											
UBA2	10054	broad.mit.edu	37	chr19	34935965	34935965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagatggtgacattaaacGtatttctactaaggaatggg	11	4	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:34935965G>A	uc002nvk.2	+	8	780	c.710G>A	c.(709-711)CGT>CAT	p.R237H	UBA2_uc010xrx.1_Missense_Mutation_p.R110H|UBA2_uc002nvl.2_Missense_Mutation_p.R141H	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	237					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GACATTAAACGTATTTCTACT	0.328													A	34935965	G	A	34935965	3	1	27	1	0	0	0	0	1	0	0	0	16825	1145	40	1	740	1	UBA2	19	34935965	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	6380	34935965	24193018	7704	31655											
GRAMD1A	57655	broad.mit.edu	37	chr19	35512908	35512908	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaccagggccccggggcaGgcatccccagtgccctggtt	15	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:35512908G>T	uc010xse.1	+	16	1944	c.1807G>T	c.(1807-1809)GGC>TGC	p.G603C	GRAMD1A_uc002nxk.2_Missense_Mutation_p.G596C|GRAMD1A_uc002nxl.2_Missense_Mutation_p.G369C|GRAMD1A_uc010xsf.1_Missense_Mutation_p.G608C|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Missense_Mutation_p.G218C	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	603						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCCCGGGGCAGGCATCCCCAG	0.443													T	35512908	G	T	35512908	3	4	27	1	0	0	0	0	1	0	0	0	6747	1000	35	5	1869	5	GRAMD1A	19	35512908	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	576943	35512908	23616075	7705	31656											
HPN	3249	broad.mit.edu	37	chr19	35556188	35556188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcctcccagctgccggCcaggccctggtggatggcaa	15	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:35556188C>T	uc002nxq.1	+	11	1091	c.846C>T	c.(844-846)GGC>GGT	p.G282G	HPN_uc002nxr.1_Silent_p.G282G|HPN_uc002nxs.1_Silent_p.G124G|HPN_uc010xsh.1_Silent_p.G251G|HPN_uc002nxt.1_Silent_p.G166G|LOC100128675_uc010xsi.1_Intron	NM_002151	NP_002142	P05981	HEPS_HUMAN	hepsin	282	Extracellular (Potential).|Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CAGCTGCCGGCCAGGCCCTGG	0.612													T	35556188	C	T	35556188	2	4	27	1	0	0	0	0	0	0	0	1	7336	726	26	2		2	HPN	19	35556188	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	43280	35556188	23572795	7706	31657											
FAM187B	148109	broad.mit.edu	37	chr19	35719391	35719391	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attggaaatattggtgaggcTggtgagcctgcccttcttgc	13	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:35719391T>C	uc002nyk.1	-	1	238	c.193A>G	c.(193-195)AGC>GGC	p.S65G		NM_152481	NP_689694	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	65	Extracellular (Potential).					integral to membrane				ovary(2)	2						TTGGTGAGGCTGGTGAGCCTG	0.507													C	35719391	T	C	35719391	3	2	27	1	0	0	0	0	1	0	0	0	5513	1580	55	3	924	3	FAM187B	19	35719391	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	163203	35719391	23409592	7707	31658											
ATP4A	495	broad.mit.edu	37	chr19	36045887	36045887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggcaggggcacgctgacGgtgatgtagatgaggtaggg	21	5	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:36045887G>A	uc002oal.1	-	16	2447	c.2418C>T	c.(2416-2418)ACC>ACT	p.T806T	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	806	Lumenal (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GCACGCTGACGGTGATGTAGA	0.547													A	36045887	G	A	36045887	2	1	27	1	0	0	0	0	0	0	0	1	1145	1103	39	1		1	ATP4A	19	36045887	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	326496	36045887	23083096	7708	31659											
ATP4A	495	broad.mit.edu	37	chr19	36046363	36046363	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agccgctggcagctctccacGatcaccagcttctgctgggg	12	15	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:36046363G>T	uc002oal.1	-	14	2165	c.2136C>A	c.(2134-2136)ATC>ATA	p.I712I	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	712	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	AGCTCTCCACGATCACCAGCT	0.672													T	36046363	G	T	36046363	2	4	27	1	0	0	0	0	0	0	0	1	1145	1048	37	5		5	ATP4A	19	36046363	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	476	36046363	23082620	7709	31660											
HAUS5	23354	broad.mit.edu	37	chr19	36109909	36109909	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctcctgctgagggagctAcaggccaaacagcagcggat	13	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:36109909A>G	uc002oam.1	+	13	1188	c.1137A>G	c.(1135-1137)CTA>CTG	p.L379L		NM_015302	NP_056117	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	379	Potential.				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle					0						TGAGGGAGCTACAGGCCAAAC	0.642													G	36109909	A	G	36109909	2	3	27	1	0	0	0	0	0	0	0	1	6969	378	14	3		3	HAUS5	19	36109909	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	63546	36109909	23019074	7710	31661											
RBM42	79171	broad.mit.edu	37	chr19	36128350	36128350	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtctccacagggaagtAtgtgggctcgcgccccatca	11	14	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:36128350A>T	uc002oan.2	+	10	1413	c.1337A>T	c.(1336-1338)TAT>TTT	p.Y446F	RBM42_uc010eef.2_Missense_Mutation_p.Y392F|RBM42_uc002oao.2_Missense_Mutation_p.Y424F|RBM42_uc002oap.2_Missense_Mutation_p.Y416F|RBM42_uc002oaq.2_Missense_Mutation_p.Y417F|RBM42_uc010eeg.2_Missense_Mutation_p.Y352F	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	446	Necessary for interaction with HNRNPK (By similarity).|RRM.					cytoplasm|nucleus	nucleotide binding|RNA binding				0	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACAGGGAAGTATGTGGGCTCG	0.622													T	36128350	A	T	36128350	3	4	27	1	0	0	0	0	1	0	0	0	13136	449	16	5	1375	5	RBM42	19	36128350	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	18441	36128350	23000633	7711	31662											
UPK1A	11045	broad.mit.edu	37	chr19	36157788	36157788	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgctagttgtgggcaataTcattattctggtgagactcg	11	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:36157788T>A	uc002oaw.2	+	1	74	c.74T>A	c.(73-75)ATC>AAC	p.I25N	UPK1A_uc010eeh.2_Missense_Mutation_p.I25N	NM_007000	NP_008931	O00322	UPK1A_HUMAN	uroplakin 1A	25	Helical; (Potential).				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity				0	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGGGCAATATCATTATTCTG	0.612													A	36157788	T	A	36157788	3	1	27	1	0	0	0	0	1	0	0	0	17004	1435	50	5	76	5	UPK1A	19	36157788	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	29438	36157788	22971195	7712	31663											
UPK1A	11045	broad.mit.edu	37	chr19	36159405	36159405	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catatgggtgacagccgaccAgtaccgtgtatacccactga	10	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:36159405A>G	uc002oaw.2	+	2	134	c.134A>G	c.(133-135)CAG>CGG	p.Q45R	UPK1A_uc010eeh.2_Missense_Mutation_p.Q45R|uc002oax.1_Missense_Mutation_p.W48R	NM_007000	NP_008931	O00322	UPK1A_HUMAN	uroplakin 1A	45	Extracellular (Potential).				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity				0	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACAGCCGACCAGTACCGTGTA	0.592													G	36159405	A	G	36159405	3	3	27	1	0	0	0	0	1	0	0	0	17004	188	7	3	140	3	UPK1A	19	36159405	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1617	36159405	22969578	7713	31664											
MLL2	8085	broad.mit.edu	37	chr19	36210764	36210765	+	Frame_Shift_Ins	INS	-	-	C													ctagcagatgtggctcctacINSccccccaaagacccctgccc					rs60207923	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:36210763_36210764A>AC	uc021usv.1	+	2	514_515	c.514_515A>AC	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAAG	0.634			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			C	36210765	-	C	36210764	7	5	27	1	0	1	1	0	0	0	0	0	9621	507	18	0		0	MLL2	19	36210764	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	51359	36210764	22918219	7714	31665											
MLL4	9757	broad.mit.edu	37	chr19	36224532	36224532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgaaaacccccacagtgCgtggggtccttgacctggat	13	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:36224532C>T	uc010eei.2	+	30	6994	c.6994C>T	c.(6994-6996)CGT>TGT	p.R2332C		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2332					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R2334C(1)		central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCCACAGTGCGTGGGGTCCT	0.662													T	36224532	C	T	36224532	3	4	27	1	0	0	0	0	1	0	0	0	9623	768	27	1	7108	1	MLL4	19	36224532	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	13768	36224532	22904451	7715	31666											
MLL4	9757	broad.mit.edu	37	chr19	36229256	36229256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcatggcaatgccgcccGcttcatcaaccactcctgtg	9	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:36229256G>A	uc010eei.2	+	38	7946	c.7946G>A	c.(7945-7947)CGC>CAC	p.R2649H		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2649	SET.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AATGCCGCCCGCTTCATCAAC	0.577													A	36229256	G	A	36229256	3	1	27	1	0	0	0	0	1	0	0	0	9623	1087	38	1	8092	1	MLL4	19	36229256	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4724	36229256	22899727	7716	31667											
TMEM149	79713	broad.mit.edu	37	chr19	36230664	36230664	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatgtgtcccctgtctccAgggcgcctggggaggacaga	14	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:36230664A>G	uc002obc.2	-	4	769	c.668T>C	c.(667-669)CTG>CCG	p.L223P	TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Missense_Mutation_p.L223P|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Missense_Mutation_p.L303P	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	transmembrane protein 149 precursor	223	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding|receptor activity				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCTGTCTCCAGGGCGCCTGG	0.647													G	36230664	A	G	36230664	3	3	27	1	0	0	0	0	1	0	0	0	16059	188	7	3	407	3	TMEM149	19	36230664	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1408	36230664	22898319	7717	31668											
NFKBID	84807	broad.mit.edu	37	chr19	36387924	36387924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagcggggaactgtggggGtcctgaagggggtgcagaaa	19	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:36387924G>A	uc002oci.1	-	5	617	c.43C>T	c.(43-45)CCC>TCC	p.P15S	NFKBID_uc002och.1_5'Flank|NFKBID_uc002ocj.1_Missense_Mutation_p.P30S	NM_139239	NP_640332	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene	15					inflammatory response	nucleus					0						AACTGTGGGGGTCCTGAAGGG	0.637													A	36387924	G	A	36387924	3	1	27	1	0	0	0	0	1	0	0	0	10379	1261	44	4	930	4	NFKBID	19	36387924	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	157260	36387924	22741059	7718	31669											
WDR62	284403	broad.mit.edu	37	chr19	36575648	36575648	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactccaagccagagacgggTgagcccgcagcaggggtgga	16	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:36575648T>C	uc002odc.2	+	12	1733	c.1642_splice	c.e12+2	p.G548_splice	WDR62_uc002odd.2_Splice_Site_p.G548_splice	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2						cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CAGAGACGGGTGAGCCCGCAG	0.637													C	36575648	T	C	36575648	5	2	27	1	0	0	0	0	0	0	1	0	17310	1710	59	3	1690	3	WDR62	19	36575648	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	187724	36575648	22553335	7719	31670											
WDR62	284403	broad.mit.edu	37	chr19	36593712	36593712	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcaacccacgcctgagTatctccacgcagttcctctc	5	17	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:36593712T>C	uc002odc.2	+	27	3370	c.3279T>C	c.(3277-3279)AGT>AGC	p.S1093S	WDR62_uc002odd.2_Silent_p.S1098S	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1093					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CACGCCTGAGTATCTCCACGC	0.617													C	36593712	T	C	36593712	2	2	27	1	0	0	0	0	0	0	0	1	17310	1635	57	3		3	WDR62	19	36593712	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	18064	36593712	22535271	7720	31671											
POLR2I	5438	broad.mit.edu	37	chr19	36604659	36604659	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgggggagagaggaggtcActcggtccagcggtggccgc	19	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:36604659A>G	uc002ode.2	-	6	824	c.376T>C	c.(376-378)TGA>CGA	p.*126R	POLR2I_uc002odf.2_RNA|TBCB_uc002odg.1_5'Flank|TBCB_uc002odh.1_5'Flank	NM_006233	NP_006224	P36954	RPB9_HUMAN	DNA directed RNA polymerase II polypeptide I	126					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGAGGAGGTCACTCGGTCCAG	0.557													G	36604659	A	G	36604659	4	3	27	1	0	0	0	0	0	0	0	0	12222	172	6	3	5	3	POLR2I	19	36604659	Nonstop_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	10947	36604659	22524324	7721	31672											
COX7A1	1346	broad.mit.edu	37	chr19	36642422	36642422	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgtcaacgatgccgcccttCaggtacaacgggatgtcatt	10	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:36642422C>T	uc002odm.1	-	3	591	c.129G>A	c.(127-129)CTG>CTA	p.L43L		NM_001864	NP_001855	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1	43	Mitochondrial matrix (By similarity).				generation of precursor metabolites and energy	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGCCGCCCTTCAGGTACAACG	0.657													T	36642422	C	T	36642422	2	4	27	1	0	0	0	0	0	0	0	1	3779	813	29	4		4	COX7A1	19	36642422	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	37763	36642422	22486561	7722	31673											
ZFP82	284406	broad.mit.edu	37	chr19	36883908	36883908	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atttataaggtttctcaccaAtatgaatactctgatgctgt	6	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:36883908A>T	uc002ody.1	-	5	1569	c.1334T>A	c.(1333-1335)ATT>AAT	p.I445N		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	zinc finger protein 82 homolog	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						TTTCTCACCAATATGAATACT	0.408													T	36883908	A	T	36883908	3	4	27	1	0	0	0	0	1	0	0	0	17650	101	4	5	268	5	ZFP82	19	36883908	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	241486	36883908	22245075	7723	31674											
ZFP82	284406	broad.mit.edu	37	chr19	36884782	36884782	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtggagtaacagatgtgcGtttctggtaagaggacacct	13	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:36884782G>T	uc002ody.1	-	5	695	c.460C>A	c.(460-462)CGC>AGC	p.R154S		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	zinc finger protein 82 homolog	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						ACAGATGTGCGTTTCTGGTAA	0.428													T	36884782	G	T	36884782	3	4	27	1	0	0	0	0	1	0	0	0	17650	1145	40	5	1142	5	ZFP82	19	36884782	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	874	36884782	22244201	7724	31675											
ZNF566	84924	broad.mit.edu	37	chr19	36939920	36939920	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaataagttgtgggtcatAattaaagttctttccacatt	7	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:36939920A>G	uc002oea.3	-	5	1298	c.1216T>C	c.(1216-1218)TAT>CAT	p.Y406H	ZNF566_uc010xte.1_Missense_Mutation_p.Y406H|ZNF566_uc010xtf.1_Missense_Mutation_p.Y407H|ZNF566_uc002oeb.3_Missense_Mutation_p.Y406H|ZNF566_uc002oec.3_Missense_Mutation_p.Y302H|ZNF566_uc010xtg.1_Missense_Mutation_p.Y302H	NM_032838	NP_116227	Q969W8	ZN566_HUMAN	zinc finger protein 566 isoform 1	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)					TGTGGGTCATAATTAAAGTTC	0.338													G	36939920	A	G	36939920	3	3	27	1	0	0	0	0	1	0	0	0	17994	362	13	3	44	3	ZNF566	19	36939920	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	55138	36939920	22189063	7725	31676											
ZNF529	57711	broad.mit.edu	37	chr19	37037873	37037873	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattcatagggtttatcatcAgtatgaatgcgctgatgttt	9	6	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:37037873A>G	uc002oeh.3	-	5	1789	c.1587T>C	c.(1585-1587)ACT>ACC	p.T529T	ZNF529_uc010xth.1_Silent_p.T529T|ZNF529_uc010xti.1_Silent_p.T511T|ZNF529_uc002oeg.3_Silent_p.T424T	NM_020951	NP_066002	Q6P280	ZN529_HUMAN	zinc finger protein 529 isoform a	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					GTTTATCATCAGTATGAATGC	0.398													G	37037873	A	G	37037873	2	3	27	1	0	0	0	0	0	0	0	1	17967	175	7	3		3	ZNF529	19	37037873	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	97953	37037873	22091110	7726	31677											
ZNF529	57711	broad.mit.edu	37	chr19	37038467	37038467	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagggtttctcaccagtatgAattctctgatgttcggtaag	10	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:37038467A>G	uc002oeh.3	-	5	1195	c.993T>C	c.(991-993)ATT>ATC	p.I331I	ZNF529_uc010xth.1_Silent_p.I331I|ZNF529_uc010xti.1_Silent_p.I313I|ZNF529_uc002oeg.3_Silent_p.I226I	NM_020951	NP_066002	Q6P280	ZN529_HUMAN	zinc finger protein 529 isoform a	298	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					CACCAGTATGAATTCTCTGAT	0.383													G	37038467	A	G	37038467	2	3	27	1	0	0	0	0	0	0	0	1	17967	242	9	3		3	ZNF529	19	37038467	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	594	37038467	22090516	7727	31678											
ZNF382	84911	broad.mit.edu	37	chr19	37100894	37100894	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtggcagcaactagacccTgctcagaaggcgctttacag	12	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:37100894T>G	uc002oek.2	+	3	191	c.78T>G	c.(76-78)CCT>CCG	p.P26P	ZNF382_uc010efa.2_Intron|ZNF382_uc010efb.2_Silent_p.P25P|ZNF382_uc002oel.2_Silent_p.P26P	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	zinc finger protein 382	26	Mediates interaction with TRIM28 (By similarity).|KRAB.|Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AACTAGACCCTGCTCAGAAGG	0.473													G	37100894	T	G	37100894	2	3	27	1	0	0	0	0	0	0	0	1	17870	1567	55	5		5	ZNF382	19	37100894	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	62427	37100894	22028089	7728	31679											
ZNF382	84911	broad.mit.edu	37	chr19	37117166	37117166	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttatggtaaaacatttactCtaggcaagaaccgtatttca	6	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:37117166C>A	uc002oek.2	+	5	480	c.367C>A	c.(367-369)CTA>ATA	p.L123I	ZNF382_uc010efa.2_Missense_Mutation_p.L74I|ZNF382_uc010efb.2_Missense_Mutation_p.L122I|ZNF382_uc002oel.2_Missense_Mutation_p.L122I	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	zinc finger protein 382	123	Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AACATTTACTCTAGGCAAGAA	0.308													A	37117166	C	A	37117166	3	1	27	1	0	0	0	0	1	0	0	0	17870	912	32	5	377	5	ZNF382	19	37117166	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	16272	37117166	22011817	7729	31680											
ZNF568	374900	broad.mit.edu	37	chr19	37441575	37441575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctatgcatgtacagtatGtggaaaagcctttagtcaga	9	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:37441575G>A	uc002ofc.2	+	7	2035	c.1520G>A	c.(1519-1521)TGT>TAT	p.C507Y	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.C431Y|ZNF568_uc010efe.2_Missense_Mutation_p.C431Y|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	507	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTACAGTATGTGGAAAAGCC	0.383													A	37441575	G	A	37441575	3	1	27	1	0	0	0	0	1	0	0	0	17996	1377	48	4	1538	4	ZNF568	19	37441575	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	324409	37441575	21687408	7730	31681											
ZNF569	148266	broad.mit.edu	37	chr19	37903927	37903927	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcataaggcttttcccctgTatgacttctcaaatgaaggg	8	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:37903927T>C	uc002ogi.2	-	6	2191	c.1633A>G	c.(1633-1635)ACA>GCA	p.T545A	ZNF569_uc002ogh.2_Missense_Mutation_p.T386A|ZNF569_uc002ogj.2_Missense_Mutation_p.T569A	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTCCCCTGTATGACTTCTC	0.388													C	37903927	T	C	37903927	3	2	27	1	0	0	0	0	1	0	0	0	17997	1638	57	3	431	3	ZNF569	19	37903927	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	462352	37903927	21225056	7731	31682											
ZFP30	22835	broad.mit.edu	37	chr19	38127031	38127031	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgagttttctgtaagtAggcattttttcagaggtggt	13	3	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:38127031A>G	uc002ogv.1	-	6	927	c.411T>C	c.(409-411)CCT>CCC	p.P137P	ZFP30_uc002ogw.1_Silent_p.P137P|ZFP30_uc002ogx.1_Silent_p.P137P|ZFP30_uc010xtt.1_Silent_p.P136P	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCTGTAAGTAGGCATTTTTT	0.408													G	38127031	A	G	38127031	2	3	27	1	0	0	0	0	0	0	0	1	17641	407	15	3		3	ZFP30	19	38127031	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	223104	38127031	21001952	7732	31683											
ZFP30	22835	broad.mit.edu	37	chr19	38127206	38127206	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatatctggattccaaaTctgaaagaaaacaagaccaa	6	8	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:38127206T>A	uc002ogv.1	-	6	752	c.236A>T	c.(235-237)GAT>GTT	p.D79V	ZFP30_uc002ogw.1_Missense_Mutation_p.D79V|ZFP30_uc002ogx.1_Missense_Mutation_p.D79V|ZFP30_uc010xtt.1_Missense_Mutation_p.D78V	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGATTCCAAATCTGAAAGAAA	0.274													A	38127206	T	A	38127206	3	1	27	1	0	0	0	0	1	0	0	0	17641	1449	50	5	1327	5	ZFP30	19	38127206	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	175	38127206	21001777	7733	31684											
ZNF607	84775	broad.mit.edu	37	chr19	38190323	38190323	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgactaagtcgtccatAcacactaaaggccttgccac	7	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:38190323A>G	uc002ohc.1	-	5	1305	c.709T>C	c.(709-711)TAT>CAT	p.Y237H	ZNF607_uc002ohb.1_Missense_Mutation_p.Y236H	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	237	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			AGTCGTCCATACACACTAAAG	0.428													G	38190323	A	G	38190323	3	3	27	1	0	0	0	0	1	0	0	0	18030	391	14	3	1385	3	ZNF607	19	38190323	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	63117	38190323	20938660	7734	31685											
ZNF607	84775	broad.mit.edu	37	chr19	38190374	38190374	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtagggtttctcaccatAatgaaatctatgatgtacag	8	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:38190374A>G	uc002ohc.1	-	5	1254	c.658T>C	c.(658-660)TAT>CAT	p.Y220H	ZNF607_uc002ohb.1_Missense_Mutation_p.Y219H	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TTCTCACCATAATGAAATCTA	0.423													G	38190374	A	G	38190374	3	3	27	1	0	0	0	0	1	0	0	0	18030	362	13	3	1436	3	ZNF607	19	38190374	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	51	38190374	20938609	7735	31686											
ZNF607	84775	broad.mit.edu	37	chr19	38190740	38190740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagagtaacacatgagtGtttcctataaagctgcattt	9	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:38190740G>A	uc002ohc.1	-	5	888	c.292C>T	c.(292-294)CAC>TAC	p.H98Y	ZNF607_uc002ohb.1_Missense_Mutation_p.H97Y	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ACACATGAGTGTTTCCTATAA	0.338													A	38190740	G	A	38190740	3	1	27	1	0	0	0	0	1	0	0	0	18030	1377	48	4	1802	4	ZNF607	19	38190740	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	366	38190740	20938243	7736	31687											
GGN	199720	broad.mit.edu	37	chr19	38877100	38877100	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcctccgccgccccccaGcgaagctttggctgctaagg	12	18	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:38877100G>A	uc002oij.1	-	3	937	c.802C>T	c.(802-804)CTG>TTG	p.L268L	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.L185L	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	268	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGCCCCCCAGCGAAGCTTTG	0.652													A	38877100	G	A	38877100	2	1	27	1	0	0	0	0	0	0	0	1	6358	962	34	2		2	GGN	19	38877100	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	686360	38877100	20251883	7737	31688											
RASGRP4	115727	broad.mit.edu	37	chr19	38910772	38910772	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcacagggctgactcacaGgtcagaagagtctcccagtc	12	12	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:38910772G>T	uc002oir.2	-	5	722	c.508C>A	c.(508-510)CTC>ATC	p.L170I	RASGRP4_uc010efz.1_RNA|RASGRP4_uc010ega.1_RNA|RASGRP4_uc010xua.1_Missense_Mutation_p.L170I|RASGRP4_uc010xub.1_Missense_Mutation_p.L170I|RASGRP4_uc010xuc.1_Missense_Mutation_p.L170I|RASGRP4_uc010xud.1_Missense_Mutation_p.L170I|RASGRP4_uc010xue.1_Missense_Mutation_p.L170I|RASGRP4_uc010egb.2_Missense_Mutation_p.L170I	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4 isoform a	170	N-terminal Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			pancreas(1)|lung(1)|skin(1)	3	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGACTCACAGGTCAGAAGAG	0.592													T	38910772	G	T	38910772	3	4	27	1	0	0	0	0	1	0	0	0	13077	1014	35	5	1565	5	RASGRP4	19	38910772	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	33672	38910772	20218211	7738	31689											
RASGRP4	115727	broad.mit.edu	37	chr19	38912707	38912707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgaccttgctgatttccCgagggctggggcatgtcttg	13	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:38912707C>T	uc002oir.2	-	2	324	c.110G>A	c.(109-111)CGG>CAG	p.R37Q	RASGRP4_uc010efz.1_5'Flank|RASGRP4_uc010ega.1_5'Flank|RASGRP4_uc010xua.1_Missense_Mutation_p.R37Q|RASGRP4_uc010xub.1_Missense_Mutation_p.R37Q|RASGRP4_uc010xuc.1_Missense_Mutation_p.R37Q|RASGRP4_uc010xud.1_Missense_Mutation_p.R37Q|RASGRP4_uc010xue.1_Missense_Mutation_p.R37Q|RASGRP4_uc010egb.2_Missense_Mutation_p.R37Q	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4 isoform a	37					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			pancreas(1)|lung(1)|skin(1)	3	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCTGATTTCCCGAGGGCTGGG	0.622													T	38912707	C	T	38912707	3	4	27	1	0	0	0	0	1	0	0	0	13077	652	23	1	1975	1	RASGRP4	19	38912707	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1935	38912707	20216276	7739	31690											
RYR1	6261	broad.mit.edu	37	chr19	38990633	38990633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccttgatcgacctgctcGgacgctgtgcaccagagatg	12	14	0	2	rs121918593		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:38990633G>A	uc002oit.2	+	45	7430	c.7300G>A	c.(7300-7302)GGA>AGA	p.G2434R	RYR1_uc002oiu.2_Missense_Mutation_p.G2434R|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2434	Cytoplasmic.|6 X approximate repeats.		G -> R (in MHS1).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGACCTGCTCGGACGCTGTGC	0.612													A	38990633	G	A	38990633	3	1	27	1	0	0	0	0	1	0	0	0	13768	1117	39	1	7478	1	RYR1	19	38990633	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	77926	38990633	20138350	7740	31691											
RYR1	6261	broad.mit.edu	37	chr19	39028590	39028590	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacaattgctctgtgagggGcacaataatggtgaggagga	14	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:39028590G>A	uc002oit.2	+	84	11809	c.11679G>A	c.(11677-11679)GGG>GGA	p.G3893G	RYR1_uc002oiu.2_Silent_p.G3888G|RYR1_uc002oiv.1_Silent_p.G802G	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3893					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCTGTGAGGGGCACAATAATG	0.572													A	39028590	G	A	39028590	2	1	27	1	0	0	0	0	0	0	0	1	13768	1190	42	2		2	RYR1	19	39028590	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	37957	39028590	20100393	7741	31692											
ACTN4	81	broad.mit.edu	37	chr19	39207920	39207920	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctgcgcctcagcaaccgGcccgccttcatgccctccga	9	19	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:39207920G>A	uc002oja.1	+	10	1166	c.1107G>A	c.(1105-1107)CGG>CGA	p.R369R	ACTN4_uc010egc.1_Silent_p.R369R	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	369	Spectrin 1.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCAGCAACCGGCCCGCCTTCA	0.627													A	39207920	G	A	39207920	2	1	27	1	0	0	0	0	0	0	0	1	207	1190	42	2		2	ACTN4	19	39207920	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	179330	39207920	19921063	7742	31693											
HNRNPL	3191	broad.mit.edu	37	chr19	39334720	39334720	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagagaggccttggcccgCtgggcactttgaactgagtc	14	10	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:39334720C>T	uc010xul.1	-	5	746	c.735G>A	c.(733-735)CAG>CAA	p.Q245Q	HNRNPL_uc002ojk.2_5'Flank|HNRNPL_uc002ojl.2_5'Flank|HNRNPL_uc010xum.1_Silent_p.Q112Q|HNRNPL_uc010xun.1_5'UTR	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	245	RRM 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CCTTGGCCCGCTGGGCACTTT	0.498													T	39334720	C	T	39334720	2	4	27	1	0	0	0	0	0	0	0	1	7270	796	28	2		2	HNRNPL	19	39334720	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	126800	39334720	19794263	7743	31694											
PAPL	390928	broad.mit.edu	37	chr19	39597717	39597717	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccacatccagcaggtgtcggAcgaccaggtcagtgaggggc	15	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:39597717A>T	uc002oki.2	+	12	1518	c.1244A>T	c.(1243-1245)GAC>GTC	p.D415V	PAPL_uc010egl.2_Intron	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	iron/zinc purple acid phosphatase-like protein	415						extracellular region	acid phosphatase activity|metal ion binding				0						CAGGTGTCGGACGACCAGGTC	0.527													T	39597717	A	T	39597717	3	4	27	1	0	0	0	0	1	0	0	0	11427	275	10	5	1286	5	PAPL	19	39597717	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	262997	39597717	19531266	7744	31695											
PAK4	10298	broad.mit.edu	37	chr19	39669173	39669173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcctggccaaggcagggcCgcctgccagcatcgtgcccc	12	17	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:39669173C>T	uc002okj.1	+	11	2191	c.1730C>T	c.(1729-1731)CCG>CTG	p.P577L	PAK4_uc002okl.1_Missense_Mutation_p.P577L|PAK4_uc002okn.1_Missense_Mutation_p.P577L|PAK4_uc002okm.1_Missense_Mutation_p.P424L|PAK4_uc002oko.1_Missense_Mutation_p.P424L|PAK4_uc002okp.1_Missense_Mutation_p.P487L	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	p21-activated kinase 4 isoform 1	577					cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			AAGGCAGGGCCGCCTGCCAGC	0.706													T	39669173	C	T	39669173	3	4	27	1	0	0	0	0	1	0	0	0	11403	652	23	1	1760	1	PAK4	19	39669173	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	71456	39669173	19459810	7745	31696											
IL28B	282617	broad.mit.edu	37	chr19	39734787	39734787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctccaaagccacggggCgctccctcacctgaggagag	12	16	1	2	rs144570763		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:39734787C>T	uc010xut.1	-	3	273	c.269G>A	c.(268-270)CGC>CAC	p.R90H	IL28B_uc010xuu.1_Missense_Mutation_p.R90H	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	interleukin 28B	90					response to virus	extracellular space	cytokine activity				0	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AGCCACGGGGCGCTCCCTCAC	0.378													T	39734787	C	T	39734787	3	4	27	1	0	0	0	0	1	0	0	0	7683	768	27	1	332	1	IL28B	19	39734787	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	65614	39734787	19394196	7746	31697											
IL28A	282616	broad.mit.edu	37	chr19	39760407	39760407	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcccacggcagggcccagGacccggggccgcctccacca	13	20	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:39760407G>A	uc002oku.1	+	5	502	c.450G>A	c.(448-450)AGG>AGA	p.R150R		NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	interleukin 28A precursor	150					response to virus	extracellular space	cytokine activity			ovary(1)|skin(1)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CAGGGCCCAGGACCCGGGGCC	0.677													A	39760407	G	A	39760407	2	1	27	1	0	0	0	0	0	0	0	1	7682	1165	41	4		4	IL28A	19	39760407	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	25620	39760407	19368576	7747	31698											
LRFN1	57622	broad.mit.edu	37	chr19	39804819	39804819	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagaggcagaggtaccacGcacacctccacgggcgccgt	12	15	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:39804819G>A	uc002okw.2	-	1	1158	c.1158C>T	c.(1156-1158)TGC>TGT	p.C386C		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	386	Ig-like.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GAGGTACCACGCACACCTCCA	0.677													A	39804819	G	A	39804819	2	1	27	1	0	0	0	0	0	0	0	1	8937	1079	38	1		1	LRFN1	19	39804819	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	44412	39804819	19324164	7748	31699											
MED29	55588	broad.mit.edu	37	chr19	39888188	39888188	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaagcccgacgcagtgcAgcctgacagcctcccctacc	8	20	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:39888188A>C	uc002olf.2	+	4	552	c.515A>C	c.(514-516)CAG>CCG	p.Q172P	MED29_uc010xuw.1_Missense_Mutation_p.S149R|MED29_uc010xux.1_RNA	NM_017592	NP_060062	Q9NX70	MED29_HUMAN	mediator complex subunit 29	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			ovary(1)|pancreas(1)	2	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GACGCAGTGCAGCCTGACAGC	0.602											OREG0025460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	39888188	A	C	39888188	3	2	27	1	0	0	0	0	1	0	0	0	9447	188	7	5	529	5	MED29	19	39888188	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	83369	39888188	19240795	7749	31700											
PLEKHG2	64857	broad.mit.edu	37	chr19	39906037	39906037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagcgtggagcaggtggGcacgctgtttgccaacattg	16	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:39906037G>A	uc010xuz.1	+	4	762	c.437G>A	c.(436-438)GGC>GAC	p.G146D	PLEKHG2_uc010xuy.1_Missense_Mutation_p.G87D|PLEKHG2_uc002olj.2_Missense_Mutation_p.G146D|PLEKHG2_uc010xva.1_5'UTR	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	146	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAGCAGGTGGGCACGCTGTTT	0.622													A	39906037	G	A	39906037	3	1	27	1	0	0	0	0	1	0	0	0	12069	1203	42	2	447	2	PLEKHG2	19	39906037	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	17849	39906037	19222946	7750	31701											
DLL3	10683	broad.mit.edu	37	chr19	39995888	39995888	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggagacacccaggtcctttgAatgcacctgcccgcgtgggt	13	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:39995888A>T	uc002olx.2	+	6	948	c.890A>T	c.(889-891)GAA>GTA	p.E297V	DLL3_uc010egq.2_Missense_Mutation_p.E297V|DLL3_uc002olw.2_Missense_Mutation_p.E297V	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	297	EGF-like 2.|Extracellular (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGTCCTTTGAATGCACCTGC	0.597													T	39995888	A	T	39995888	3	4	27	1	0	0	0	0	1	0	0	0	4567	246	9	5	912	5	DLL3	19	39995888	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	89851	39995888	19133095	7751	31702											
LGALS14	56891	broad.mit.edu	37	chr19	40197239	40197239	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctccataccctggcaggtAccatacacactgcctgtttc	6	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:40197239A>G	uc002omg.2	+	2	241	c.18A>G	c.(16-18)GTA>GTG	p.V6V	LGALS14_uc002omf.2_Silent_p.V35V	NM_020129	NP_064514	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14 isoform	6	Galectin.			SLPV -> ITPG (in Ref. 1; AAP97241).		nucleus	sugar binding			ovary(1)|skin(1)	2	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			CCTGGCAGGTACCATACACAC	0.502													G	40197239	A	G	40197239	2	3	27	1	0	0	0	0	0	0	0	1	8741	378	14	3		3	LGALS14	19	40197239	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	201351	40197239	18931744	7752	31703											
DYRK1B	9149	broad.mit.edu	37	chr19	40316612	40316612	+	Frame_Shift_Del	DEL	G	G	-													acgaccaaggtatcggggctGggggggtaactgggccccgg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:40316611_40316611TG>T	uc002omj.3	-	10	1914	c.1634_1634CA>A	c.(1633-1635)cagfs	p.Q545fs	DYRK1B_uc002omi.3_Frame_Shift_Del_p.Q517fs|DYRK1B_uc002omk.3_Frame_Shift_Del_p.Q505fs	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	545					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GTATCGGGGCTGGGGGGGTAA	0.687													-	40316612	G	-	40316612	7	5	27	1	0	1	0	1	0	0	0	0	4855	1357	47	0	260	0	DYRK1B	19	40316612	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	119373	40316612	18812371	7753	31704											
DYRK1B	9149	broad.mit.edu	37	chr19	40321416	40321416	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaggcagtagccgcacatcaGgcaatacctgcagggcaggg	15	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:40321416G>C	uc002omj.2	-	3	351	c.71C>G	c.(70-72)CCT>CGT	p.P24R	DYRK1B_uc002omi.2_Missense_Mutation_p.P24R|DYRK1B_uc002omk.2_Missense_Mutation_p.P24R|DYRK1B_uc002oml.2_Missense_Mutation_p.P24R	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	24					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CCGCACATCAGGCAATACCTG	0.592													C	40321416	G	C	40321416	3	2	27	1	0	0	0	0	1	0	0	0	4855	1000	35	5	1854	5	DYRK1B	19	40321416	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4804	40321416	18807567	7754	31705											
FCGBP	8857	broad.mit.edu	37	chr19	40362933	40362933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcccgcaggcctcgttgCtctcatagggtgcagtctcc	12	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:40362933C>T	uc002omp.3	-	32	15145	c.15137G>A	c.(15136-15138)AGC>AAC	p.S5046N		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	5046	VWFD 12.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCCTCGTTGCTCTCATAGGG	0.687													T	40362933	C	T	40362933	3	4	27	1	0	0	0	0	1	0	0	0	5778	797	28	2	1100	2	FCGBP	19	40362933	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	41517	40362933	18766050	7755	31706											
FCGBP	8857	broad.mit.edu	37	chr19	40364395	40364395	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctcacagggcaggagtcAccgcagagctcatagtggct	13	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:40364395A>G	uc002omp.3	-	31	14255	c.14247T>C	c.(14245-14247)GGT>GGC	p.G4749G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4749	TIL 11.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCAGGAGTCACCGCAGAGCT	0.647													G	40364395	A	G	40364395	2	3	27	1	0	0	0	0	0	0	0	1	5778	146	6	3		3	FCGBP	19	40364395	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1462	40364395	18764588	7756	31707											
PSMC4	5704	broad.mit.edu	37	chr19	40485987	40485987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactctcagccgacagggaGgttcagaggatcctgctgga	14	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:40485987G>A	uc002omq.2	+	8	889	c.852G>A	c.(850-852)GAG>GAA	p.E284E	PSMC4_uc002omr.2_Silent_p.E253E	NM_006503	NP_006494	P43686	PRS6B_HUMAN	proteasome 26S ATPase subunit 4 isoform 1	284					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			ovary(1)	1	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CCGACAGGGAGGTTCAGAGGA	0.552													A	40485987	G	A	40485987	2	1	27	1	0	0	0	0	0	0	0	1	12689	991	35	4		4	PSMC4	19	40485987	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	121592	40485987	18642996	7757	31708											
ZNF546	339327	broad.mit.edu	37	chr19	40521505	40521505	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcacacgggtgagaaaccCtataaatgtaaagaatgtgg	11	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:40521505C>A	uc002oms.2	+	7	2584	c.2328C>A	c.(2326-2328)CCC>CCA	p.P776P	ZNF546_uc002omt.2_Silent_p.P750P	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	zinc finger protein 546	776					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTGAGAAACCCTATAAATGTA	0.383													A	40521505	C	A	40521505	2	1	27	1	0	0	0	0	0	0	0	1	17975	668	24	5		5	ZNF546	19	40521505	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	35518	40521505	18607478	7758	31709											
ZNF780B	163131	broad.mit.edu	37	chr19	40541784	40541784	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaagggtttctcgccagTatgaattcggcaatgttcaa	9	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:40541784T>C	uc002omu.2	-	5	1047	c.982A>G	c.(982-984)ACT>GCT	p.T328A	ZNF780B_uc002omv.2_Missense_Mutation_p.T180A	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTCTCGCCAGTATGAATTCGG	0.398													C	40541784	T	C	40541784	3	2	27	1	0	0	0	0	1	0	0	0	18150	1638	57	3	1523	3	ZNF780B	19	40541784	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	20279	40541784	18587199	7759	31710											
ZNF780A	284323	broad.mit.edu	37	chr19	40581085	40581085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgattaaagcctttcccacActccttacattcatatggtt	4	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:40581085A>G	uc002omy.2	-	6	1489	c.1264T>C	c.(1264-1266)TGT>CGT	p.C422R	ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.C422R|ZNF780A_uc010xvh.1_Missense_Mutation_p.C423R	NM_001010880	NP_001010880	O75290	Z780A_HUMAN	zinc finger protein 780A isoform b	422	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CCTTTCCCACACTCCTTACAT	0.388													G	40581085	A	G	40581085	3	3	27	1	0	0	0	0	1	0	0	0	18149	159	6	3	792	3	ZNF780A	19	40581085	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	39301	40581085	18547898	7760	31711											
PLD3	23646	broad.mit.edu	37	chr19	40882661	40882661	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctgcgtgacaaccatAcccactctgacatccaggtg	8	16	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:40882661A>G	uc002onm.3	+	11	1563	c.1165A>G	c.(1165-1167)ACC>GCC	p.T389A	PLD3_uc002onj.3_Missense_Mutation_p.T389A|PLD3_uc002onk.3_Missense_Mutation_p.T389A|PLD3_uc002onl.3_Missense_Mutation_p.T389A|PLD3_uc002onn.2_Missense_Mutation_p.T389A	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	phospholipase D3	389	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			skin(2)|ovary(1)	3			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			TGACAACCATACCCACTCTGA	0.632													G	40882661	A	G	40882661	3	3	27	1	0	0	0	0	1	0	0	0	12047	391	14	3	1199	3	PLD3	19	40882661	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	301576	40882661	18246322	7761	31712											
NUMBL	9253	broad.mit.edu	37	chr19	41183257	41183257	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtgaccccacattcctTctcccgtcgctgttttcgct	8	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:41183257T>C	uc002oon.2	-	7	778	c.610A>G	c.(610-612)AAG>GAG	p.K204E	NUMBL_uc010xvq.1_Missense_Mutation_p.K163E|NUMBL_uc002ooo.2_Missense_Mutation_p.K204E|NUMBL_uc010xvr.1_Missense_Mutation_p.K163E	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	204	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			lung(3)|ovary(1)|breast(1)	5			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CCACATTCCTTCTCCCGTCGC	0.677													C	41183257	T	C	41183257	3	2	27	1	0	0	0	0	1	0	0	0	10752	1792	62	3	1235	3	NUMBL	19	41183257	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	300596	41183257	17945726	7762	31713											
CYP2A6	1548	broad.mit.edu	37	chr19	41355868	41355868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgaatggtgaacacgggGccatagcgctcactgatctg	13	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:41355868G>A	uc002opl.3	-	2	219	c.198C>T	c.(196-198)GGC>GGT	p.G66G	CYP2A6_uc010ehe.1_Intron|CYP2A6_uc010ehf.1_RNA	NM_000762	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A,	66					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	TGAACACGGGGCCATAGCGCT	0.617													A	41355868	G	A	41355868	2	1	27	1	0	0	0	0	0	0	0	1	4162	1190	42	2		2	CYP2A6	19	41355868	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	172611	41355868	17773115	7763	31714											
CYP2B6	1555	broad.mit.edu	37	chr19	41518216	41518216	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacagagagagtctacagGgagattgaacaggtgattgg	15	4	1	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:41518216G>A	uc002opr.1	+	7	985	c.978G>A	c.(976-978)AGG>AGA	p.R326R	CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Silent_p.R126R	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	326					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GAGTCTACAGGGAGATTGAAC	0.353													A	41518216	G	A	41518216	2	1	27	1	0	0	0	0	0	0	0	1	4164	1223	43	4		4	CYP2B6	19	41518216	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	162348	41518216	17610767	7764	31715											
CYP2A13	1553	broad.mit.edu	37	chr19	41594537	41594537	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgaacacagagcagaTgtacaactccctcatgaagg	10	11	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:41594537T>A	uc002opt.2	+	1	170	c.161T>A	c.(160-162)ATG>AAG	p.M54K		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A,	54					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			ovary(2)|skin(1)	3					Clomipramine(DB01242)|Nicotine(DB00184)	ACAGAGCAGATGTACAACTCC	0.602													A	41594537	T	A	41594537	3	1	27	1	0	0	0	0	1	0	0	0	4161	1464	51	5	163	5	CYP2A13	19	41594537	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	76321	41594537	17534446	7765	31716											
CYP2S1	29785	broad.mit.edu	37	chr19	41704403	41704403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccctgctgctggcccaggCcacctccaacgtagtctgct	9	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:41704403C>T	uc002opw.2	+	4	585	c.530C>T	c.(529-531)GCC>GTC	p.A177V	CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_Intron	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S,	177					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			skin(1)	1						CTGGCCCAGGCCACCTCCAAC	0.647													T	41704403	C	T	41704403	3	4	27	1	0	0	0	0	1	0	0	0	4174	739	26	2	544	2	CYP2S1	19	41704403	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	109866	41704403	17424580	7766	31717											
AXL	558	broad.mit.edu	37	chr19	41744385	41744385	+	Frame_Shift_Del	DEL	C	C	-													tgtcctccagtgcccctgggCccccctgagaacattagtgc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:41744384_41744384GC>G	uc010ehj.3	+	7	1194	c.1004_1004GC>G	c.(1003-1005)ggcfs	p.G335fs	AXL_uc010ehi.1_Frame_Shift_Del_p.G335fs|AXL_uc010ehk.3_Frame_Shift_Del_p.G335fs	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	335	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTGCCCCTGGGCCCCCCTGAG	0.667													-	41744385	C	-	41744385	7	5	27	1	0	1	0	1	0	0	0	0	1238	726	26	0	1035	0	AXL	19	41744385	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	39982	41744385	17384598	7767	31718											
CCDC97	90324	broad.mit.edu	37	chr19	41825542	41825542	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgctatatgagcagtacaTcgggcagtatctcacccagg	10	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:41825542T>A	uc002oqg.2	+	3	688	c.566T>A	c.(565-567)ATC>AAC	p.I189N	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	189											0						GAGCAGTACATCGGGCAGTAT	0.657													A	41825542	T	A	41825542	3	1	27	1	0	0	0	0	1	0	0	0	2875	1435	50	5	576	5	CCDC97	19	41825542	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	81157	41825542	17303441	7768	31719											
TMEM91	641649	broad.mit.edu	37	chr19	41889623	41889623	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccactgcctctacagaccAacaaggcttgggccaagggg	12	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:41889623A>G	uc002oqk.3	+	4	715	c.364A>G	c.(364-366)AAC>GAC	p.N122D	CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_3'UTR|TMEM91_uc010ehq.2_Intron|TMEM91_uc002oql.2_3'UTR|TMEM91_uc010ehr.2_Intron|TMEM91_uc010ehs.2_Intron|TMEM91_uc010eht.2_Intron|BCKDHA_uc002oqm.3_Intron|TMEM91_uc002oqn.2_3'UTR	NM_001098821	NP_001092291	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91 isoform a	122					response to biotic stimulus	integral to membrane					0						TCTACAGACCAACAAGGCTTG	0.662													G	41889623	A	G	41889623	3	3	27	1	0	0	0	0	1	0	0	0	16217	130	5	3	438	3	TMEM91	19	41889623	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	64081	41889623	17239360	7769	31720											
B3GNT8	374907	broad.mit.edu	37	chr19	41931597	41931597	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagcacagtggtccgcagTgcggtctgctggccaggctg	16	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:41931597T>C	uc002oqs.2	-	3	1541	c.1087A>G	c.(1087-1089)ACT>GCT	p.T363A	CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal	363	Lumenal (Potential).				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity				0						TGGTCCGCAGTGCGGTCTGCT	0.652													C	41931597	T	C	41931597	3	2	27	1	0	0	0	0	1	0	0	0	1263	1696	59	3	110	3	B3GNT8	19	41931597	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	41974	41931597	17197386	7770	31721											
CEACAM6	4680	broad.mit.edu	37	chr19	42265942	42265942	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccaggggaaaatctgaacCtctcctgccacgcagcctct	9	15	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:42265942C>A	uc002orm.2	+	4	918	c.769C>A	c.(769-771)CTC>ATC	p.L257I		NM_002483	NP_002474	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion	257	Ig-like C2-type 2.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AAATCTGAACCTCTCCTGCCA	0.517													A	42265942	C	A	42265942	3	1	27	1	0	0	0	0	1	0	0	0	3196	681	24	5	783	5	CEACAM6	19	42265942	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	334345	42265942	16863041	7771	31722											
CD79A	973	broad.mit.edu	37	chr19	42383300	42383300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggcatatacgtgtgccGggtccaggagggcaacgagt	18	8	0	0	rs143511203		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:42383300G>A	uc002orv.2	+	2	505	c.320G>A	c.(319-321)CGG>CAG	p.R107Q	CD79A_uc002oru.2_Intron	NM_001783	NP_001774	P11912	CD79A_HUMAN	CD79A antigen isoform 1 precursor	107	Ig-like C2-type.|Extracellular (Potential).				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			ovary(2)|pancreas(1)	3						TACGTGTGCCGGGTCCAGGAG	0.642			O|S		DLBCL								A	42383300	G	A	42383300	3	1	27	1	0	0	0	0	1	0	0	0	3036	1116	39	1	326	1	CD79A	19	42383300	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	117358	42383300	16745683	7772	31723											
CD79A	973	broad.mit.edu	37	chr19	42383344	42383344	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagcagtcctgcggcaccTacctccgcgtgcgccgtgag	12	17	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:42383344T>C	uc002orv.2	+	2	549	c.364T>C	c.(364-366)TAC>CAC	p.Y122H	CD79A_uc002oru.2_Intron	NM_001783	NP_001774	P11912	CD79A_HUMAN	CD79A antigen isoform 1 precursor	122	Extracellular (Potential).				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			ovary(2)|pancreas(1)	3						CTGCGGCACCTACCTCCGCGT	0.607			O|S		DLBCL								C	42383344	T	C	42383344	3	2	27	1	0	0	0	0	1	0	0	0	3036	1522	53	3	370	3	CD79A	19	42383344	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	44	42383344	16745639	7773	31724											
ARHGEF1	9138	broad.mit.edu	37	chr19	42396773	42396773	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggccggcagctggaggActtccgttccaagcggctca	15	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:42396773A>G	uc002orx.2	+	7	576	c.467A>G	c.(466-468)GAC>GGC	p.D156G	ARHGEF1_uc002orw.1_Missense_Mutation_p.D156G|ARHGEF1_uc002ory.2_Missense_Mutation_p.D123G|ARHGEF1_uc002orz.2_5'UTR|ARHGEF1_uc002osa.2_Missense_Mutation_p.D171G|ARHGEF1_uc002osb.2_Missense_Mutation_p.D138G|ARHGEF1_uc002osc.2_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	156	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CAGCTGGAGGACTTCCGTTCC	0.682													G	42396773	A	G	42396773	3	3	27	1	0	0	0	0	1	0	0	0	893	275	10	3	538	3	ARHGEF1	19	42396773	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	13429	42396773	16732210	7774	31725											
GRIK5	2901	broad.mit.edu	37	chr19	42557982	42557982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggtctgctcacctcacGgtggccctgccgggactttt	12	15	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:42557982G>A	uc002osj.1	-	9	1191	c.1156C>T	c.(1156-1158)CGT>TGT	p.R386C	GRIK5_uc010eib.1_Missense_Mutation_p.R305C	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	386	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CTCACCTCACGGTGGCCCTGC	0.647													A	42557982	G	A	42557982	3	1	27	1	0	0	0	0	1	0	0	0	6777	1116	39	1	1830	1	GRIK5	19	42557982	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	161209	42557982	16571001	7775	31726											
ZNF574	64763	broad.mit.edu	37	chr19	42584439	42584439	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggactgtggcaaggctttcAcgcaaagctccacactgagg	13	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:42584439A>G	uc002osm.3	+	2	1850	c.1681A>G	c.(1681-1683)ACG>GCG	p.T561A	ZNF574_uc002osk.3_Missense_Mutation_p.T651A	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	561	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				CAAGGCTTTCACGCAAAGCTC	0.632													G	42584439	A	G	42584439	3	3	27	1	0	0	0	0	1	0	0	0	18003	159	6	3	1683	3	ZNF574	19	42584439	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	26457	42584439	16544544	7776	31727											
ZNF574	64763	broad.mit.edu	37	chr19	42584644	42584644	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgcaccagctcgtggTccatgccgggcgccagcccc	15	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:42584644T>A	uc002osm.3	+	2	2055	c.1886T>A	c.(1885-1887)GTC>GAC	p.V629D	ZNF574_uc002osk.3_Missense_Mutation_p.V719D	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	629	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				CAGCTCGTGGTCCATGCCGGG	0.682													A	42584644	T	A	42584644	3	1	27	1	0	0	0	0	1	0	0	0	18003	1667	58	5	1888	5	ZNF574	19	42584644	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	205	42584644	16544339	7777	31728											
ERF	2077	broad.mit.edu	37	chr19	42753689	42753689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcctccagctctgacgtgCcatcactacagtcactgact	7	15	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:42753689C>T	uc002ote.3	-	4	733	c.575G>A	c.(574-576)GGC>GAC	p.G192D	ERF_uc002otd.3_5'UTR	NM_006494	NP_006485	P50548	ERF_HUMAN	Ets2 repressor factor	192					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4		Prostate(69;0.00682)				CTCTGACGTGCCATCACTACA	0.692													T	42753689	C	T	42753689	3	4	27	1	0	0	0	0	1	0	0	0	5221	739	26	2	1075	2	ERF	19	42753689	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	169045	42753689	16375294	7778	31729											
CIC	23152	broad.mit.edu	37	chr19	42791268	42791268	+	Frame_Shift_Del	DEL	C	C	-													ctgagagcccaggacccggaCccccacaccctttgggggtg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:42791267_42791267AC>A	uc002otf.1	+	2	367	c.327_327AC>A	c.(325-327)ggafs	p.G109fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	109	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGGACCCGGACCCCCACACC	0.692			"Mis, F, S"		oligodendroglioma								-	42791268	C	-	42791268	7	5	27	1	0	1	0	1	0	0	0	0	3424	507	18	0	338	0	CIC	19	42791268	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	37579	42791268	16337715	7779	31730											
CIC	23152	broad.mit.edu	37	chr19	42796488	42796488	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcgggcgggcacgcgctGcccctgggtaccagccctgc	15	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:42796488G>A	uc002otf.1	+	13	3085	c.3045G>A	c.(3043-3045)CTG>CTA	p.L1015L		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1015	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				GGCACGCGCTGCCCCTGGGTA	0.682			T	DUX4	soft tissue sarcoma								A	42796488	G	A	42796488	2	1	27	1	0	0	0	0	0	0	0	1	3424	1306	46	2		2	CIC	19	42796488	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	5220	42796488	16332495	7780	31731											
CIC	23152	broad.mit.edu	37	chr19	42796740	42796740	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccaagccccactgctggcTcccggtcaggtgggcgtgtc	15	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:42796740T>C	uc002otf.1	+	14	3238	c.3198T>C	c.(3196-3198)GCT>GCC	p.A1066A		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1066	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CACTGCTGGCTCCCGGTCAGG	0.642			T	DUX4	soft tissue sarcoma								C	42796740	T	C	42796740	2	2	27	1	0	0	0	0	0	0	0	1	3424	1538	54	3		3	CIC	19	42796740	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	252	42796740	16332243	7781	31732											
TMEM145	284339	broad.mit.edu	37	chr19	42827839	42827839	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccggagggagccaatccgcTgacaaggccttcccgcagca	12	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:42827839T>C	uc002otk.1	+	14	1351	c.1299T>C	c.(1297-1299)GCT>GCC	p.A433A	MEGF8_uc002otl.3_5'Flank	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	transmembrane protein 145	433						integral to membrane					0		Prostate(69;0.00682)				GCCAATCCGCTGACAAGGCCT	0.637													C	42827839	T	C	42827839	2	2	27	1	0	0	0	0	0	0	0	1	16056	1567	55	3		3	TMEM145	19	42827839	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	31099	42827839	16301144	7782	31733											
MEGF8	1954	broad.mit.edu	37	chr19	42861608	42861608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcacacccttactgcccGccgaggcctgtctctgctcc	9	18	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:42861608G>A	uc002otl.3	+	27	5317	c.4682G>A	c.(4681-4683)CGC>CAC	p.R1561H	MEGF8_uc002otm.3_Missense_Mutation_p.R1169H	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1628	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				CTTACTGCCCGCCGAGGCCTG	0.652													A	42861608	G	A	42861608	3	1	27	1	0	0	0	0	1	0	0	0	9463	1087	38	1	4788	1	MEGF8	19	42861608	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	33769	42861608	16267375	7783	31734											
CEACAM1	634	broad.mit.edu	37	chr19	43015763	43015763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggtttgtgctctgtgagaTcacgctggtcgcttgcccta	13	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:43015763T>C	uc002otv.2	-	7	1507	c.1394A>G	c.(1393-1395)GAT>GGT	p.D465G	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_Intron|CEACAM1_uc002otw.2_Intron|CEACAM1_uc010eij.2_Intron|CEACAM1_uc002otx.2_Missense_Mutation_p.D400G|CEACAM1_uc002oty.2_Missense_Mutation_p.D369G|CEACAM1_uc002otz.2_Intron|CEACAM1_uc010eik.2_Missense_Mutation_p.D191G	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	465	Cytoplasmic (Potential).				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CTCTGTGAGATCACGCTGGTC	0.507													C	43015763	T	C	43015763	3	2	27	1	0	0	0	0	1	0	0	0	3187	1435	50	3	198	3	CEACAM1	19	43015763	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	154155	43015763	16113220	7784	31735											
PSG1	5669	broad.mit.edu	37	chr19	43382146	43382146	+	Missense_Mutation	SNP	C	C	T													gtgtaaggtgtaggatcctgCgtcctcccgggtgacattct					rs145276203	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:43382146C>T	uc002ovb.2	-	2	487	c.349G>A	c.(349-351)GCA>ACA	p.A117T	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.A117T|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.A117T|PSG1_uc010eio.1_Missense_Mutation_p.A117T|PSG1_uc002oux.1_Missense_Mutation_p.A46T|PSG1_uc002ouy.1_Missense_Mutation_p.A117T|PSG1_uc002ouz.1_Missense_Mutation_p.A117T|PSG1_uc002ova.1_Missense_Mutation_p.A117T|PSG1_uc002ovc.2_Missense_Mutation_p.A117T|PSG1_uc002ovd.1_Missense_Mutation_p.A117T	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	117	Ig-like V-type.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				TAGGATCCTGCGTCCTCCCGG	0.458													T	43382146	C	T	43382146	3	4	27	1	0	0	0	0	1	0	0	0	12653	768	27	1	983	1	PSG1	19	43382146	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	366383	43382146	15746837	7785	31736	106	2									
PSG1	5669	broad.mit.edu	37	chr19	43382150	43382150	+	Silent	SNP	C	C	T													aaggtgtaggatcctgcgtcCtcccgggtgacattctggat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:43382150C>T	uc002ovb.2	-	2	483	c.345G>A	c.(343-345)GAG>GAA	p.E115E	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Silent_p.E115E|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Silent_p.E115E|PSG1_uc010eio.1_Silent_p.E115E|PSG1_uc002oux.1_Silent_p.E44E|PSG1_uc002ouy.1_Silent_p.E115E|PSG1_uc002ouz.1_Silent_p.E115E|PSG1_uc002ova.1_Silent_p.E115E|PSG1_uc002ovc.2_Silent_p.E115E|PSG1_uc002ovd.1_Silent_p.E115E	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	115	Ig-like V-type.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				ATCCTGCGTCCTCCCGGGTGA	0.458													T	43382150	C	T	43382150	2	4	27	1	0	0	0	0	0	0	0	1	12653	680	24	4		4	PSG1	19	43382150	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4	43382150	15746833	7786	31737	106	2									
PSG6	5675	broad.mit.edu	37	chr19	43420352	43420352	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatgatgtgtaaggtgtaggAtcctgcatcctcctgtgtga	12	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:43420352A>T	uc002ovj.1	-	2	404	c.352T>A	c.(352-354)TCC>ACC	p.S118T	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ovf.1_Missense_Mutation_p.S118T|PSG6_uc002ovg.1_Missense_Mutation_p.S118T	NM_002782	NP_002773	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6 isoform	118	Ig-like V-type.				female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)				AAGGTGTAGGATCCTGCATCC	0.473													T	43420352	A	T	43420352	3	4	27	1	0	0	0	0	1	0	0	0	12659	333	12	5	1014	5	PSG6	19	43420352	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	38202	43420352	15708631	7787	31738											
PSG7	5676	broad.mit.edu	37	chr19	43439623	43439623	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcgctttatgatgtgtaaAgtgtaggatcctgtgtcttc	10	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:43439623A>G	uc002ovl.3	-	3	465	c.363T>C	c.(361-363)ACT>ACC	p.T121T	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	121	Ig-like V-type.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				TGATGTGTAAAGTGTAGGATC	0.468													G	43439623	A	G	43439623	2	3	27	1	0	0	0	0	0	0	0	1	12660	59	3	3		3	PSG7	19	43439623	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	19271	43439623	15689360	7788	31739											
PSG2	5670	broad.mit.edu	37	chr19	43576074	43576074	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaacggtaattggtgtAtgaagggtgaattctgggga	15	4	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:43576074A>G	uc002ovr.2	-	4	835	c.742T>C	c.(742-744)TAC>CAC	p.Y248H	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.Y248H|PSG2_uc010eiq.1_Missense_Mutation_p.Y248H|PSG2_uc002ovs.3_Missense_Mutation_p.Y248H|PSG2_uc002ovt.3_Missense_Mutation_p.Y248H	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	248	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)				TAATTGGTGTATGAAGGGTGA	0.478													G	43576074	A	G	43576074	3	3	27	1	0	0	0	0	1	0	0	0	12655	449	16	3	273	3	PSG2	19	43576074	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	136451	43576074	15552909	7789	31740											
LYPD3	27076	broad.mit.edu	37	chr19	43968517	43968517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcggtgcagacgtccacGcccggcgcgcacttcactgt	12	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:43968517G>A	uc002owl.1	-	2	279	c.171C>T	c.(169-171)GGC>GGT	p.G57G	LYPD3_uc002owm.2_Silent_p.G57G	NM_014400	NP_055215	O95274	LYPD3_HUMAN	GPI-anchored metastasis-associated protein	57	UPAR/Ly6 1.					anchored to plasma membrane				pancreas(1)	1		Prostate(69;0.0153)				AGACGTCCACGCCCGGCGCGC	0.692													A	43968517	G	A	43968517	2	1	27	1	0	0	0	0	0	0	0	1	9111	1074	38	1		1	LYPD3	19	43968517	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	392443	43968517	15160466	7790	31741											
IRGQ	126298	broad.mit.edu	37	chr19	44096782	44096782	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggcgcctcctccagcAcctcccacgtctcgtcctcc	9	22	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:44096782A>G	uc002oww.2	-	2	1386	c.1268T>C	c.(1267-1269)GTG>GCG	p.V423A	IRGQ_uc010eiv.2_Missense_Mutation_p.V423A	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	423							protein binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0199)				CTCCTCCAGCACCTCCCACGT	0.692													G	44096782	A	G	44096782	3	3	27	1	0	0	0	0	1	0	0	0	7839	159	6	3	607	3	IRGQ	19	44096782	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	128265	44096782	15032201	7791	31742											
KCNN4	3783	broad.mit.edu	37	chr19	44278390	44278390	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtcagccagaggccaaGcgtgaggccgagcagcaggc	18	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:44278390G>T	uc002oxl.2	-	3	1033	c.637C>A	c.(637-639)CTT>ATT	p.L213I	KCNN4_uc010eiz.2_Missense_Mutation_p.L126I|KCNN4_uc010eja.1_RNA	NM_002250	NP_002241	O15554	KCNN4_HUMAN	intermediate conductance calcium-activated	213	Helical; Name=Segment S5; (Potential).				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			ovary(2)	2		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	CAGAGGCCAAGCGTGAGGCCG	0.662											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	44278390	G	T	44278390	3	4	27	1	0	0	0	0	1	0	0	0	8081	971	34	5	670	5	KCNN4	19	44278390	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	181608	44278390	14850593	7792	31743											
ZNF283	284349	broad.mit.edu	37	chr19	44339699	44339699	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttcaccaatagaggaatcCcatggagcattaattagttc	8	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:44339699C>A	uc002oxr.3	+	5	433	c.165C>A	c.(163-165)TCC>TCA	p.S55S	ZNF283_uc002oxp.3_5'UTR	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	55					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TAGAGGAATCCCATGGAGCAT	0.433													A	44339699	C	A	44339699	2	1	27	1	0	0	0	0	0	0	0	1	17817	610	22	5		5	ZNF283	19	44339699	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	61309	44339699	14789284	7793	31744											
ZNF45	7596	broad.mit.edu	37	chr19	44418273	44418273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttatagggtttttcccctgTatggactctaaaatgaatgt	8	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:44418273T>C	uc002oxu.1	-	4	1414	c.1315A>G	c.(1315-1317)ACA>GCA	p.T439A	ZNF45_uc002oxw.1_Missense_Mutation_p.T439A|ZNF45_uc002oxv.1_Missense_Mutation_p.T439A	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	zinc finger protein 45	439					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						TTTTCCCCTGTATGGACTCTA	0.473													C	44418273	T	C	44418273	3	2	27	1	0	0	0	0	1	0	0	0	17918	1638	57	3	737	3	ZNF45	19	44418273	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	78574	44418273	14710710	7794	31745											
ZNF223	7766	broad.mit.edu	37	chr19	44564934	44564934	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaccgagatactttccacTttctaagggaggaaaagttt	8	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:44564934T>C	uc002oyf.1	+	4	428	c.175T>C	c.(175-177)TTT>CTT	p.F59L	ZNF284_uc010ejd.2_RNA	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0352)				TACTTTCCACTTTCTAAGGGA	0.413													C	44564934	T	C	44564934	3	2	27	1	0	0	0	0	1	0	0	0	17774	1609	56	3	185	3	ZNF223	19	44564934	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	146661	44564934	14564049	7795	31746											
ZNF227	7770	broad.mit.edu	37	chr19	44738911	44738911	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatttgcattaaaataccttTcaaatcaagagctgtcctgc	5	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:44738911T>A	uc002oyu.2	+	6	533	c.328T>A	c.(328-330)TCA>ACA	p.S110T	ZNF227_uc010xwu.1_Missense_Mutation_p.S59T|ZNF227_uc002oyv.2_Missense_Mutation_p.S110T|ZNF227_uc010xwv.1_Missense_Mutation_p.S59T|ZNF227_uc010xww.1_Missense_Mutation_p.S31T|ZNF227_uc002oyw.2_Missense_Mutation_p.S82T|ZNF227_uc010ejh.2_Missense_Mutation_p.S103T|ZNF235_uc002oyx.1_RNA	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				AAAATACCTTTCAAATCAAGA	0.383													A	44738911	T	A	44738911	3	1	27	1	0	0	0	0	1	0	0	0	17778	1783	62	5	342	5	ZNF227	19	44738911	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	173977	44738911	14390072	7796	31747											
ZNF227	7770	broad.mit.edu	37	chr19	44740625	44740625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttatataccatcagagagGccacactggagaaaaacctt	8	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:44740625G>A	uc002oyu.2	+	6	2247	c.2042G>A	c.(2041-2043)GGC>GAC	p.G681D	ZNF227_uc010xwu.1_Missense_Mutation_p.G630D|ZNF227_uc002oyv.2_Missense_Mutation_p.G681D|ZNF227_uc010xwv.1_Missense_Mutation_p.G630D|ZNF227_uc010xww.1_Missense_Mutation_p.G602D|ZNF227_uc002oyw.2_Missense_Mutation_p.G653D|ZNF227_uc010ejh.2_Missense_Mutation_p.G674D|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	681	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				CATCAGAGAGGCCACACTGGA	0.468													A	44740625	G	A	44740625	3	1	27	1	0	0	0	0	1	0	0	0	17778	1203	42	2	2056	2	ZNF227	19	44740625	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1714	44740625	14388358	7797	31748											
ZNF233	353355	broad.mit.edu	37	chr19	44777661	44777661	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaactacacttaagagAcaagcctcatgtaaatgttg	7	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:44777661A>C	uc002oyz.1	+	5	975	c.848A>C	c.(847-849)GAC>GCC	p.D283A	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.D98A	NM_181756	NP_861421	A6NK53	ZN233_HUMAN	zinc finger protein 233	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2		Prostate(69;0.0435)|all_neural(266;0.226)				CACTTAAGAGACAAGCCTCAT	0.433													C	44777661	A	C	44777661	3	2	27	1	0	0	0	0	1	0	0	0	17783	275	10	5	862	5	ZNF233	19	44777661	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	37036	44777661	14351322	7798	31749											
ZNF233	353355	broad.mit.edu	37	chr19	44778453	44778453	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgggaagggctttagtcAgagttcgcatctccaagacc	12	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:44778453A>G	uc002oyz.1	+	5	1767	c.1640A>G	c.(1639-1641)CAG>CGG	p.Q547R	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.Q362R	NM_181756	NP_861421	A6NK53	ZN233_HUMAN	zinc finger protein 233	547	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2		Prostate(69;0.0435)|all_neural(266;0.226)				GGCTTTAGTCAGAGTTCGCAT	0.468													G	44778453	A	G	44778453	3	3	27	1	0	0	0	0	1	0	0	0	17783	188	7	3	1654	3	ZNF233	19	44778453	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	792	44778453	14350530	7799	31750											
ZNF285	26974	broad.mit.edu	37	chr19	44890966	44890966	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcacatttatatggtttttCtccagtgtgaactctctgat	6	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:44890966C>A	uc002ozd.3	-	4	1528	c.1441G>T	c.(1441-1443)GAA>TAA	p.E481*	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Nonsense_Mutation_p.E488*	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4						TATGGTTTTTCTCCAGTGTGA	0.388													A	44890966	C	A	44890966	4	1	27	1	0	0	0	0	0	1	0	0	17819	922	32	5	335	5	ZNF285	19	44890966	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	112513	44890966	14238017	7800	31751											
ZNF285	26974	broad.mit.edu	37	chr19	44892260	44892260	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatgttgtttttaatcccGtctcctaggagaagaaagag	9	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:44892260G>A	uc002ozd.3	-	4	234	c.147C>T	c.(145-147)GAC>GAT	p.D49D	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Silent_p.D56D	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4						TTTTAATCCCGTCTCCTAGGA	0.418													A	44892260	G	A	44892260	2	1	27	1	0	0	0	0	0	0	0	1	17819	1136	40	1		1	ZNF285	19	44892260	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1294	44892260	14236723	7801	31752											
ZNF229	7772	broad.mit.edu	37	chr19	44933132	44933132	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtcggagctgtagatgaaAcccttcccacacacgtcaca	9	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:44933132A>G	uc002oze.1	-	6	2258	c.1824T>C	c.(1822-1824)GGT>GGC	p.G608G	ZNF229_uc010ejk.1_Silent_p.G262G|ZNF229_uc010ejl.1_Silent_p.G602G	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	608	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)				TGTAGATGAAACCCTTCCCAC	0.552													G	44933132	A	G	44933132	2	3	27	1	0	0	0	0	0	0	0	1	17779	30	2	3		3	ZNF229	19	44933132	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	40872	44933132	14195851	7802	31753											
CEACAM16	388551	broad.mit.edu	37	chr19	45209070	45209070	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccgcccaggaggggacgtAcacatgtattgcgaagaaca	13	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:45209070A>G	uc010xxd.1	+	5	1078	c.872A>G	c.(871-873)TAC>TGC	p.Y291C	CEACAM16_uc002ozq.2_Missense_Mutation_p.Y350C	NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion	291										ovary(1)	1	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GAGGGGACGTACACATGTATT	0.587													G	45209070	A	G	45209070	3	3	27	1	0	0	0	0	1	0	0	0	3188	391	14	3	886	3	CEACAM16	19	45209070	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	275938	45209070	13919913	7803	31754											
PVRL2	5819	broad.mit.edu	37	chr19	45391415	45391415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggaagaacggtcaggaCccttgcaccctggagccaca	11	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:45391415C>T	uc002ozw.1	+	9	1786	c.1396C>T	c.(1396-1398)CCC>TCC	p.P466S		NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	poliovirus receptor related 2 isoform delta	466	Cytoplasmic (Potential).				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		ACGGTCAGGACCCTTGCACCC	0.547													T	45391415	C	T	45391415	3	4	27	1	0	0	0	0	1	0	0	0	12840	507	18	4	1832	4	PVRL2	19	45391415	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	182345	45391415	13737568	7804	31755											
APOC2	344	broad.mit.edu	37	chr19	45452442	45452442	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtacagcaaaagcacagcagCcatgagcacttacacaggca	9	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:45452442C>A	uc002pah.2	+	4	345	c.242C>A	c.(241-243)GCC>GAC	p.A81D		NM_000483	NP_000474	P02655	APOC2_HUMAN	apolipoprotein C-II precursor	81					cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle clearance|lipid catabolic process|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of lipid metabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of phospholipase activity|positive regulation of phospholipid catabolic process|positive regulation of triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	chylomicron|intermediate-density lipoprotein particle|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	lipase inhibitor activity|lipid binding|lipoprotein lipase activator activity|phospholipase activator activity|phospholipase binding|protein homodimerization activity			kidney(1)	1	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		AGCACAGCAGCCATGAGCACT	0.373													A	45452442	C	A	45452442	3	1	27	1	0	0	0	0	1	0	0	0	798	739	26	5	252	5	APOC2	19	45452442	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	61027	45452442	13676541	7805	31756											
CLPTM1	1209	broad.mit.edu	37	chr19	45477800	45477800	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtatggcgactggactagCggcgagaactcagacggctg	16	9	1	2	rs150833300	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:45477800C>T	uc002pai.2	+	4	429	c.414C>T	c.(412-414)AGC>AGT	p.S138S	CLPTM1_uc010ejv.1_Silent_p.S36S|CLPTM1_uc010xxf.1_Silent_p.S36S|CLPTM1_uc010xxg.1_Silent_p.S124S	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	138	Extracellular (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		ACTGGACTAGCGGCGAGAACT	0.567													T	45477800	C	T	45477800	2	4	27	1	0	0	0	0	0	0	0	1	3554	767	27	1		1	CLPTM1	19	45477800	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	25358	45477800	13651183	7806	31757											
RELB	5971	broad.mit.edu	37	chr19	45540714	45540714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccctgacttcttctctgGcaccgtgtccctgcccggcc	9	18	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:45540714G>A	uc002paj.1	+	13	1532	c.1406G>A	c.(1405-1407)GGC>GAC	p.G469D	SFRS16_uc002pak.2_5'Flank|SFRS16_uc002pal.2_5'Flank|SFRS16_uc010xxh.1_5'Flank|SFRS16_uc002pam.2_5'Flank|SFRS16_uc002pan.1_5'Flank	NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B	469						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TTCTTCTCTGGCACCGTGTCC	0.627													A	45540714	G	A	45540714	3	1	27	1	0	0	0	0	1	0	0	0	13217	1203	42	2	1444	2	RELB	19	45540714	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	62914	45540714	13588269	7807	31758											
SFRS16	11129	broad.mit.edu	37	chr19	45573341	45573341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagtacagccggcagagcCgctcaccctccccccgatac	9	20	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:45573341C>T	uc002pak.2	+	19	2034	c.1936C>T	c.(1936-1938)CGC>TGC	p.R646C	SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Missense_Mutation_p.R584C|SFRS16_uc002pam.2_Missense_Mutation_p.R627C	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	splicing factor, arginine/serine-rich 16	646	Potential.|Arg-rich.				mRNA processing|RNA splicing	nucleus					0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCGGCAGAGCCGCTCACCCTC	0.582													T	45573341	C	T	45573341	3	4	27	1	0	0	0	0	1	0	0	0	14172	652	23	1	2006	1	SFRS16	19	45573341	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	32627	45573341	13555642	7808	31759											
NKPD1	284353	broad.mit.edu	37	chr19	45656571	45656571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccaaacaccttgagcaggCtgccgctcgggctgccgtgg	14	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:45656571C>T	uc010xxi.1	-	4	1124	c.1124G>A	c.(1123-1125)AGC>AAC	p.S375N		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CTTGAGCAGGCTGCCGCTCGG	0.716													T	45656571	C	T	45656571	3	4	27	1	0	0	0	0	1	0	0	0	10446	797	28	2	1378	2	NKPD1	19	45656571	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	83230	45656571	13472412	7809	31760											
ERCC2	2068	broad.mit.edu	37	chr19	45860791	45860791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtttgatggccagcgaggCgtccatgcagctggagagag	18	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:45860791C>T	uc002pbj.2	-	14	1365	c.1318G>A	c.(1318-1320)GCC>ACC	p.A440T	ERCC2_uc002pbh.2_Missense_Mutation_p.A3T|ERCC2_uc002pbi.2_Missense_Mutation_p.A133T|ERCC2_uc010ejz.2_Missense_Mutation_p.A362T|ERCC2_uc002pbk.2_Missense_Mutation_p.A416T	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	440	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GCCAGCGAGGCGTCCATGCAG	0.637			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				T	45860791	C	T	45860791	3	4	27	1	0	0	0	0	1	0	0	0	5213	768	27	1	1004	1	ERCC2	19	45860791	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	204220	45860791	13268192	7810	31761											
ERCC2	2068	broad.mit.edu	37	chr19	45867315	45867315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgggcggcgctggcctccCgcagcccctccaccagacgc	12	22	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:45867315C>T	uc002pbj.2	-	10	925	c.878G>A	c.(877-879)CGG>CAG	p.R293Q	ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.R215Q|ERCC2_uc002pbk.2_Missense_Mutation_p.R269Q|ERCC2_uc002pbl.3_Missense_Mutation_p.R269Q|ERCC2_uc010xxj.1_RNA	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	293					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GCTGGCCTCCCGCAGCCCCTC	0.731			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				T	45867315	C	T	45867315	3	4	27	1	0	0	0	0	1	0	0	0	5213	652	23	1	1517	1	ERCC2	19	45867315	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6524	45867315	13261668	7811	31762											
ERCC2	2068	broad.mit.edu	37	chr19	45873415	45873415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtccagcgtgcgtttgagCtcccgcatgtaggagaactg	14	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:45873415C>T	uc002pbj.2	-	2	128	c.81G>A	c.(79-81)GAG>GAA	p.E27E	ERCC2_uc010ejz.2_Silent_p.E27E|ERCC2_uc002pbk.2_Silent_p.E3E|ERCC2_uc002pbl.3_Silent_p.E3E|ERCC2_uc010xxj.1_RNA	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	27	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TGCGTTTGAGCTCCCGCATGT	0.667			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				T	45873415	C	T	45873415	2	4	27	1	0	0	0	0	0	0	0	1	5213	796	28	2		2	ERCC2	19	45873415	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6100	45873415	13255568	7812	31763											
CD3EAP	10849	broad.mit.edu	37	chr19	45911723	45911723	+	Frame_Shift_Del	DEL	C	C	-													agggcctaggtcagccttggCccccaacctgctcacctcag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:45911722_45911722GC>G	uc002pbr.1	+	2	508	c.502_502GC>G	c.(502-504)gccfs	p.A168fs	PPP1R13L_uc002pbo.3_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbq.1_Frame_Shift_Del_p.A166fs|ERCC1_uc002pbt.2_3'UTR|ERCC1_uc002pbs.2_3'UTR|ERCC1_uc002pbu.2_3'UTR	NM_012099	NP_036231	O15446	RPA34_HUMAN	Homo sapiens CD3e molecule, epsilon associated protein (CD3EAP), mRNA.	166					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	RNA polymerase I transcription factor complex|chromosome	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		GTCAGCCTTGGCCCCCAACCT	0.627													-	45911723	C	-	45911723	7	5	27	1	0	1	0	1	0	0	0	0	3012	739	26	0	507	0	CD3EAP	19	45911723	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	38308	45911723	13217260	7813	31764											
CD3EAP	10849	broad.mit.edu	37	chr19	45912637	45912637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagcagagtcaggaaagcCggatgccagagacagtgccc	14	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:45912637C>T	uc002pbq.1	+	3	1899	c.1411C>T	c.(1411-1413)CGG>TGG	p.R471W	CD3EAP_uc002pbr.1_Missense_Mutation_p.R473W	NM_012099	NP_036231	O15446	RPA34_HUMAN	CD3E antigen, epsilon polypeptide associated	471					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			large_intestine(2)|ovary(2)	4		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TCAGGAAAGCCGGATGCCAGA	0.602													T	45912637	C	T	45912637	3	4	27	1	0	0	0	0	1	0	0	0	3012	643	23	1	1421	1	CD3EAP	19	45912637	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	914	45912637	13216346	7814	31765											
RTN2	6253	broad.mit.edu	37	chr19	45998181	45998181	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccggggggtgccccagtcCtgcgacgtggtctcctcctc	13	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:45998181C>A	uc002pcb.2	-	3	390	c.162G>T	c.(160-162)CAG>CAT	p.Q54H	RTN2_uc002pcc.2_Missense_Mutation_p.Q54H|RTN2_uc002pcd.2_RNA	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	54						integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TGCCCCAGTCCTGCGACGTGG	0.647													A	45998181	C	A	45998181	3	1	27	1	0	0	0	0	1	0	0	0	13726	680	24	5	1511	5	RTN2	19	45998181	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	85544	45998181	13130802	7815	31766											
OPA3	80207	broad.mit.edu	37	chr19	46032333	46032333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatttctcggacgccggcGcaactgggggtgcaggcggc	16	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:46032333G>A	uc002pcj.3	-	2	624	c.524C>T	c.(523-525)GCG>GTG	p.A175V		NM_001017989	NP_001017989	Q9H6K4	OPA3_HUMAN	OPA3 protein isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					response to stimulus|visual perception	mitochondrion					0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		GGACGCCGGCGCAACTGGGGG	0.672													A	46032333	G	A	46032333	3	1	27	1	0	0	0	0	1	0	0	0	10872	1087	38	1	22	1	OPA3	19	46032333	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	34152	46032333	13096650	7816	31767											
GPR4	2828	broad.mit.edu	37	chr19	46094232	46094232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggttgtgcagggccttgGccacatcgctgcgggcgccc	16	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:46094232G>A	uc002pcm.2	-	2	1838	c.893C>T	c.(892-894)GCC>GTC	p.A298V	OPA3_uc010xxk.1_Intron	NM_005282	NP_005273	P46093	GPR4_HUMAN	G protein-coupled receptor 4	298	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CAGGGCCTTGGCCACATCGCT	0.622													A	46094232	G	A	46094232	3	1	27	1	0	0	0	0	1	0	0	0	6694	1203	42	2	199	2	GPR4	19	46094232	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	61899	46094232	13034751	7817	31768											
EML2	24139	broad.mit.edu	37	chr19	46136131	46136131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacttacagatttggagaaGcccacacagcacacggctct	10	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:46136131G>A	uc002pcn.2	-	6	533	c.498C>T	c.(496-498)GGC>GGT	p.G166G	EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Silent_p.G50G|EML2_uc010xxl.1_Silent_p.G313G|EML2_uc010xxm.1_Silent_p.G367G|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Silent_p.G166G|EML2_uc010ekj.2_Silent_p.G166G|EML2_uc010ekk.1_5'Flank	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like	166	WD 2.				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		ATTTGGAGAAGCCCACACAGC	0.627													A	46136131	G	A	46136131	2	1	27	1	0	0	0	0	0	0	0	1	5097	958	34	2		2	EML2	19	46136131	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	41899	46136131	12992852	7818	31769											
SNRPD2	6633	broad.mit.edu	37	chr19	46191820	46191820	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcttgggcttgttgaggaGgctcctgcatggacaaacat	12	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:46191820G>T	uc002pcw.2	-	2	304	c.7C>A	c.(7-9)CTC>ATC	p.L3I	SNRPD2_uc002pcv.2_5'UTR	NM_004597	NP_004588	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 isoform 1	3					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding				0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		TTGTTGAGGAGGCTCCTGCAT	0.542													T	46191820	G	T	46191820	3	4	27	1	0	0	0	0	1	0	0	0	14865	1000	35	5	357	5	SNRPD2	19	46191820	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	55689	46191820	12937163	7819	31770											
FBXO46	23403	broad.mit.edu	37	chr19	46216103	46216103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtccccaccaccggaccgCcgttcagatcccaccccctt	6	22	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:46216103C>T	uc002pcy.2	-	2	776	c.651G>A	c.(649-651)CGG>CGA	p.R217R	FBXO46_uc002pcz.2_Silent_p.R217R	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	217							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CACCGGACCGCCGTTCAGATC	0.682													T	46216103	C	T	46216103	2	4	27	1	0	0	0	0	0	0	0	1	5755	726	26	2		2	FBXO46	19	46216103	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	24283	46216103	12912880	7820	31771											
DMWD	1762	broad.mit.edu	37	chr19	46289095	46289095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgccactgccgccactGccaccccggctgatgttgcc	9	20	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:46289095G>A	uc002pdj.1	-	3	1705	c.1659C>T	c.(1657-1659)GGC>GGT	p.G553G	DMWD_uc002pdk.1_Silent_p.G553G|DMWD_uc010eko.1_Silent_p.G238G	NM_004943	NP_004934	Q09019	DMWD_HUMAN	dystrophia myotonica-containing WD repeat motif	553					meiosis						0		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		TGCCGCCACTGCCACCCCGGC	0.716													A	46289095	G	A	46289095	2	1	27	1	0	0	0	0	0	0	0	1	4593	1306	46	2		2	DMWD	19	46289095	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	72992	46289095	12839888	7821	31772											
DMWD	1762	broad.mit.edu	37	chr19	46290090	46290090	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctctccgactcaggcaGccacttcagatatgtcacct	8	15	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:46290090G>A	uc002pdj.1	-	3	710	c.664C>T	c.(664-666)CTG>TTG	p.L222L	DMWD_uc002pdk.1_Silent_p.L222L|DMWD_uc010eko.1_5'UTR	NM_004943	NP_004934	Q09019	DMWD_HUMAN	dystrophia myotonica-containing WD repeat motif	222	WD 1.				meiosis						0		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GACTCAGGCAGCCACTTCAGA	0.607													A	46290090	G	A	46290090	2	1	27	1	0	0	0	0	0	0	0	1	4593	962	34	2		2	DMWD	19	46290090	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	995	46290090	12838893	7822	31773											
SYMPK	8189	broad.mit.edu	37	chr19	46331121	46331121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcagtacttgcggaccaCctccagggcactctctgtga	10	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:46331121C>T	uc002pdn.2	-	15	2286	c.2041G>A	c.(2041-2043)GTG>ATG	p.V681M	SYMPK_uc002pdo.1_Missense_Mutation_p.V681M|SYMPK_uc002pdp.1_Missense_Mutation_p.V681M	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	681					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TTGCGGACCACCTCCAGGGCA	0.652													T	46331121	C	T	46331121	3	4	27	1	0	0	0	0	1	0	0	0	15436	507	18	4	1835	4	SYMPK	19	46331121	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	41031	46331121	12797862	7823	31774											
SYMPK	8189	broad.mit.edu	37	chr19	46351021	46351021	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtactcactgtactggatgTaggggtggtcacgagggatg	16	6	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:46351021T>C	uc002pdn.2	-	7	910	c.665A>G	c.(664-666)TAC>TGC	p.Y222C	SYMPK_uc002pdo.1_Missense_Mutation_p.Y222C|SYMPK_uc002pdp.1_Missense_Mutation_p.Y222C|SYMPK_uc002pdq.1_Missense_Mutation_p.Y222C	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	222					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GTACTGGATGTAGGGGTGGTC	0.592													C	46351021	T	C	46351021	3	2	27	1	0	0	0	0	1	0	0	0	15436	1638	57	3	3243	3	SYMPK	19	46351021	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	19900	46351021	12777962	7824	31775											
FOXA3	3171	broad.mit.edu	37	chr19	46375928	46375928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggagaaggtgaaaaaagGgggcagcggggctgccacca	19	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:46375928G>A	uc002pdr.2	+	2	862	c.665G>A	c.(664-666)GGG>GAG	p.G222E		NM_004497	NP_004488	P55318	FOXA3_HUMAN	forkhead box A3	222					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)	1		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		GTGAAAAAAGGGGGCAGCGGG	0.657													A	46375928	G	A	46375928	3	1	27	1	0	0	0	0	1	0	0	0	5991	1232	43	4	671	4	FOXA3	19	46375928	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	24907	46375928	12753055	7825	31776											
NANOS2	339345	broad.mit.edu	37	chr19	46417579	46417579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagttgcgcccgctgcggcGgtagagggactgctggccac	17	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:46417579G>A	uc002pdu.2	-	1	458	c.373C>T	c.(373-375)CGC>TGC	p.R125C		NM_001029861	NP_001025032	P60321	NANO2_HUMAN	nanos homolog 2	125					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding				0		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		CCGCTGCGGCGGTAGAGGGAC	0.667													A	46417579	G	A	46417579	3	1	27	1	0	0	0	0	1	0	0	0	10152	1116	39	1	47	1	NANOS2	19	46417579	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	41651	46417579	12711404	7826	31777											
HIF3A	64344	broad.mit.edu	37	chr19	46807198	46807198	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaagtcccgggatgcggccCgcagccggcgcagccaggag	16	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:46807198C>A	uc002peh.2	+	2	99	c.70C>A	c.(70-72)CGC>AGC	p.R24S	HIF3A_uc002pef.1_Missense_Mutation_p.R24S|HIF3A_uc002peg.3_Missense_Mutation_p.R24S|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_5'UTR|HIF3A_uc002pej.1_Silent_p.P3P|HIF3A_uc002pek.2_5'UTR|HIF3A_uc010xxy.1_Silent_p.P3P|HIF3A_uc002pel.2_Missense_Mutation_p.R22S|HIF3A_uc010xxz.1_Silent_p.P21P	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	24	Basic motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GGATGCGGCCCGCAGCCGGCG	0.657													A	46807198	C	A	46807198	3	1	27	1	0	0	0	0	1	0	0	0	7105	652	23	5	100	5	HIF3A	19	46807198	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	389619	46807198	12321785	7827	31778											
HIF3A	64344	broad.mit.edu	37	chr19	46832527	46832527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggatgatgacttccagCtcaacgccagcgagcagcta	10	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:46832527C>T	uc002peh.2	+	12	1533	c.1504C>T	c.(1504-1506)CTC>TTC	p.L502F	HIF3A_uc002peg.3_Missense_Mutation_p.L502F|HIF3A_uc002pei.3_Missense_Mutation_p.L446F|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Missense_Mutation_p.L446F|HIF3A_uc010xxy.1_Missense_Mutation_p.L433F|HIF3A_uc002pel.2_Missense_Mutation_p.L500F|HIF3A_uc010xxz.1_Missense_Mutation_p.L451F	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	502	NTAD.|ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TGACTTCCAGCTCAACGCCAG	0.582													T	46832527	C	T	46832527	3	4	27	1	0	0	0	0	1	0	0	0	7105	797	28	2	1574	2	HIF3A	19	46832527	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	25329	46832527	12296456	7828	31779											
CCDC8	83987	broad.mit.edu	37	chr19	46914494	46914494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctcagcttctgctctgGcctcggccctcagcaccctg	9	19	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:46914494G>A	uc002pep.2	-	1	2426	c.1574C>T	c.(1573-1575)GCC>GTC	p.A525V		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	525	Potential.					plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TTCTGCTCTGGCCTCGGCCCT	0.657													A	46914494	G	A	46914494	3	1	27	1	0	0	0	0	1	0	0	0	2853	1203	42	2	46	2	CCDC8	19	46914494	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	81967	46914494	12214489	7829	31780											
PNMAL2	57469	broad.mit.edu	37	chr19	46996841	46996841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatttagggggcagcctccGgccccgacgggccttcttcc	13	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:46996841G>A	uc002pes.2	-	1	2329	c.1882C>T	c.(1882-1884)CGG>TGG	p.R628W	uc002peu.1_5'Flank	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	630										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GGCAGCCTCCGGCCCCGACGG	0.786													A	46996841	G	A	46996841	3	1	27	1	0	0	0	0	1	0	0	0	12158	1115	39	1	29	1	PNMAL2	19	46996841	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	82347	46996841	12132142	7830	31781											
STRN4	29888	broad.mit.edu	37	chr19	47226079	47226079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccttaccgctgctgccccGggactccagcgtgaggaggg	14	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:47226079G>A	uc002pfl.2	-	14	1927	c.1894C>T	c.(1894-1896)CGG>TGG	p.R632W	STRN4_uc002pfm.2_Missense_Mutation_p.R639W|STRN4_uc010xyf.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	632						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CTGCTGCCCCGGGACTCCAGC	0.627													A	47226079	G	A	47226079	3	1	27	1	0	0	0	0	1	0	0	0	15330	1115	39	1	383	1	STRN4	19	47226079	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	229238	47226079	11902904	7831	31782											
SLC1A5	6510	broad.mit.edu	37	chr19	47280550	47280550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacgcactggaagagcgCggcaccgtccatgttgacgg	15	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:47280550C>T	uc002pfs.2	-	6	1791	c.1171G>A	c.(1171-1173)GCG>ACG	p.A391T	SLC1A5_uc010xyh.1_Missense_Mutation_p.A189T|SLC1A5_uc002pfq.2_Missense_Mutation_p.A215T|SLC1A5_uc002pfr.2_Missense_Mutation_p.A163T	NM_005628	NP_005619	Q15758	AAAT_HUMAN	solute carrier family 1 member 5 isoform 1	391	Helical; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity				0		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	TGGAAGAGCGCGGCACCGTCC	0.587													T	47280550	C	T	47280550	3	4	27	1	0	0	0	0	1	0	0	0	14435	768	27	1	466	1	SLC1A5	19	47280550	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	54471	47280550	11848433	7832	31783											
AP2S1	1175	broad.mit.edu	37	chr19	47341797	47341797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaacatctcgtccacgacCgtgtaaacctgtgtgagggg	13	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:47341797C>T	uc002pft.1	-	5	516	c.336G>A	c.(334-336)ACG>ACA	p.T112T	AP2S1_uc002pfu.1_Silent_p.T74T	NM_004069	NP_004060	P53680	AP2S1_HUMAN	adaptor-related protein complex 2, sigma 1	112					axon guidance|clathrin coat assembly|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|regulation of endocytosis|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	protein transporter activity				0		all_cancers(25;1.24e-06)|all_epithelial(76;1.09e-05)|all_lung(116;0.00019)|Lung NSC(112;0.000601)|Ovarian(192;0.0221)|all_neural(266;0.0459)|Breast(70;0.128)		OV - Ovarian serous cystadenocarcinoma(262;3.86e-05)|all cancers(93;0.000107)|Epithelial(262;0.00325)|GBM - Glioblastoma multiforme(486;0.0336)		CGTCCACGACCGTGTAAACCT	0.637													T	47341797	C	T	47341797	2	4	27	1	0	0	0	0	0	0	0	1	743	639	23	1		1	AP2S1	19	47341797	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	61247	47341797	11787186	7833	31784											
BBC3	27113	broad.mit.edu	37	chr19	47725161	47725161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaggggcggtgccgctgCtgctcctcttgtctctgggg	18	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:47725161C>T	uc002pgf.3	-	4	761	c.480G>A	c.(478-480)CAG>CAA	p.Q160Q	BBC3_uc010xyl.1_Missense_Mutation_p.A195T|BBC3_uc010eky.2_Silent_p.Q98Q|BBC3_uc010ekz.2_Missense_Mutation_p.A35T	NM_014417	NP_055232	Q9BXH1	BBC3_HUMAN	BCL2 binding component 3 isoform 4	160					activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol	cytosol|mitochondrial outer membrane	protein binding|protein binding				0		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)		GGTGCCGCTGCTGCTCCTCTT	0.617													T	47725161	C	T	47725161	2	4	27	1	0	0	0	0	0	0	0	1	1333	797	28	2		2	BBC3	19	47725161	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	383364	47725161	11403822	7834	31785											
NAPA	8775	broad.mit.edu	37	chr19	48006736	48006736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggcgtagatttcgcatGcttcctctattttggatgag	10	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:48006736G>A	uc002pha.1	-	2	422	c.122C>T	c.(121-123)GCA>GTA	p.A41V	NAPA_uc002phb.1_Missense_Mutation_p.A41V|NAPA_uc002phc.1_Intron|NAPA_uc002phd.1_Missense_Mutation_p.A41V|NAPA_uc010elf.1_Intron|NAPA_uc010elg.1_Intron|NAPA_uc002phe.2_Missense_Mutation_p.A41V	NM_003827	NP_003818	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment	41					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol					0		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		GATTTCGCATGCTTCCTCTAT	0.483													A	48006736	G	A	48006736	3	1	27	1	0	0	0	0	1	0	0	0	10161	1319	46	2	805	2	NAPA	19	48006736	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	281575	48006736	11122247	7835	31786											
GLTSCR1	29998	broad.mit.edu	37	chr19	48197715	48197715	+	Frame_Shift_Del	DEL	C	C	-													tgagggaccgctgcccccagCcccccacctccctccatcct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:48197715delC	uc002phh.3	+	8	2821	c.2627delC	c.(2626-2628)GCCfs	p.A876fs	GLTSCR1_uc002phi.3_Frame_Shift_Del_p.A634fs	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	876							protein binding			pancreas(3)	3		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CTGCCCCCAGCCCCCCACCTC	0.726													-	48197715	C	-	48197715	7	5	27	1	0	1	0	1	0	0	0	0	6474	739	26	0	2649	0	GLTSCR1	19	48197715	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	190979	48197715	10931268	7836	31787											
EHD2	30846	broad.mit.edu	37	chr19	48239750	48239750	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagattcagctggaacatcAcatctcccctggggactttc	9	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:48239750A>G	uc002phj.3	+	5	1290	c.1040A>G	c.(1039-1041)CAC>CGC	p.H347R	EHD2_uc010xyu.1_Missense_Mutation_p.H211R|EHD2_uc010xyv.1_Missense_Mutation_p.H30R	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	347					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CTGGAACATCACATCTCCCCT	0.522													G	48239750	A	G	48239750	3	3	27	1	0	0	0	0	1	0	0	0	4978	159	6	3	1054	3	EHD2	19	48239750	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	42035	48239750	10889233	7837	31788											
EHD2	30846	broad.mit.edu	37	chr19	48244520	48244520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaactcagtgctggggcGcatctggaagctcagcgatg	13	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:48244520G>A	uc002phj.3	+	6	1713	c.1463G>A	c.(1462-1464)CGC>CAC	p.R488H	EHD2_uc010xyu.1_Missense_Mutation_p.R352H|EHD2_uc010xyv.1_Missense_Mutation_p.R171H	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	488	EF-hand.|EH.				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GTGCTGGGGCGCATCTGGAAG	0.642													A	48244520	G	A	48244520	3	1	27	1	0	0	0	0	1	0	0	0	4978	1087	38	1	1481	1	EHD2	19	48244520	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4770	48244520	10884463	7838	31789											
ELSPBP1	64100	broad.mit.edu	37	chr19	48525436	48525436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttcctaggaatttccgCgttggtccctggctttcctt	9	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:48525436C>T	uc002pht.2	+	6	679	c.524C>T	c.(523-525)GCG>GTG	p.A175V		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1 precursor	175					single fertilization	extracellular region					0		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GGAATTTCCGCGTTGGTCCCT	0.453													T	48525436	C	T	48525436	3	4	27	1	0	0	0	0	1	0	0	0	5083	768	27	1	542	1	ELSPBP1	19	48525436	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	280916	48525436	10603547	7839	31790											
CABP5	56344	broad.mit.edu	37	chr19	48537535	48537535	+	Frame_Shift_Del	DEL	G	G	-													gacaacctcagagatctcccGgggggtgagccgctccccca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:48537534_48537534CG>C	uc002phu.2	-	4	566	c.434_434CG>G	c.(433-435)cggfs	p.R145fs		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	Homo sapiens calcium binding protein 5 (CABP5), mRNA.	145	EF-hand 4.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		AGAGATCTCCCGGGGGGTGAG	0.597													-	48537535	G	-	48537535	7	5	27	1	0	1	0	1	0	0	0	0	2534	1115	39	0	96	0	CABP5	19	48537535	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	12099	48537535	10591448	7840	31791											
LIG1	3978	broad.mit.edu	37	chr19	48624533	48624533	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtaggcgccgatcaccAccaggtccagggtgtcaccc	12	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:48624533A>G	uc002pia.1	-	24	2399	c.2279T>C	c.(2278-2280)GTG>GCG	p.V760A	LIG1_uc010xze.1_Missense_Mutation_p.V453A|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.V692A|LIG1_uc010xzg.1_Missense_Mutation_p.V729A	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	760					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GCCGATCACCACCAGGTCCAG	0.672								NER					G	48624533	A	G	48624533	3	3	27	1	0	0	0	0	1	0	0	0	8781	159	6	3	500	3	LIG1	19	48624533	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	86998	48624533	10504450	7841	31792											
LIG1	3978	broad.mit.edu	37	chr19	48626233	48626233	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggcgatctcgtaggtggcAtcaacatccagggtcttcac	11	11	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:48626233A>G	uc002pia.1	-	23	2310	c.2190T>C	c.(2188-2190)GAT>GAC	p.D730D	LIG1_uc010xze.1_Silent_p.D423D|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Silent_p.D662D|LIG1_uc010xzg.1_Silent_p.D699D	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	730					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CGTAGGTGGCATCAACATCCA	0.617								NER					G	48626233	A	G	48626233	2	3	27	1	0	0	0	0	0	0	0	1	8781	214	8	3		3	LIG1	19	48626233	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1700	48626233	10502750	7842	31793											
SULT2B1	6820	broad.mit.edu	37	chr19	49100124	49100124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaccatgtccaactacacGctgctgcctcccagcctgct	6	18	0	0	rs112884737		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:49100124G>A	uc002pjl.2	+	6	855	c.774G>A	c.(772-774)ACG>ACA	p.T258T	SULT2B1_uc002pjm.2_Silent_p.T243T	NM_177973	NP_814444	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	258					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			skin(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CCAACTACACGCTGCTGCCTC	0.512													A	49100124	G	A	49100124	2	1	27	1	0	0	0	0	0	0	0	1	15379	1074	38	1		1	SULT2B1	19	49100124	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	473891	49100124	10028859	7843	31794											
IZUMO1	284359	broad.mit.edu	37	chr19	49247440	49247440	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccagactcaccacatttgTtgggacaataagctgtgtca	8	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:49247440T>C	uc002pkj.2	-	5	958	c.410A>G	c.(409-411)AAC>AGC	p.N137S	IZUMO1_uc010eme.2_RNA|IZUMO1_uc010emf.2_RNA	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1 precursor	137	Extracellular (Potential).				fusion of sperm to egg plasma membrane	integral to membrane				ovary(1)	1		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		ACCACATTTGTTGGGACAATA	0.443													C	49247440	T	C	49247440	3	2	27	1	0	0	0	0	1	0	0	0	7933	1725	60	3	666	3	IZUMO1	19	49247440	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	147316	49247440	9881543	7844	31795											
BCAT2	587	broad.mit.edu	37	chr19	49310321	49310321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagggacagagagaagctttCgtgcccagatctgggtggag	16	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:49310321C>T	uc002pkr.2	-	2	72	c.35G>A	c.(34-36)CGA>CAA	p.R12Q	BCAT2_uc002pkp.2_5'UTR|BCAT2_uc002pkq.3_5'UTR|BCAT2_uc002pks.2_5'UTR|BCAT2_uc002pkt.2_Intron|BCAT2_uc010emh.1_Missense_Mutation_p.R12Q|BCAT2_uc010emi.1_Intron|BCAT2_uc002pku.1_5'UTR|BCAT2_uc010emj.1_RNA	NM_001190	NP_001181	O15382	BCAT2_HUMAN	branched chain aminotransferase 2, mitochondrial	12						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			ovary(1)	1		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	GAGAAGCTTTCGTGCCCAGAT	0.587													T	49310321	C	T	49310321	3	4	27	1	0	0	0	0	1	0	0	0	1355	884	31	1	1183	1	BCAT2	19	49310321	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	62881	49310321	9818662	7845	31796											
TULP2	7288	broad.mit.edu	37	chr19	49398379	49398379	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcggaattgtctgggagCcaggataagaaaggggactg	16	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:49398379C>T	uc002pkz.2	-	6	541	c.390G>A	c.(388-390)TGG>TGA	p.W130*		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	130					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		TGTCTGGGAGCCAGGATAAGA	0.547													T	49398379	C	T	49398379	4	4	27	1	0	0	0	0	0	1	0	0	16771	740	26	2	1204	2	TULP2	19	49398379	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	88058	49398379	9730604	7846	31797											
KCNA7	3743	broad.mit.edu	37	chr19	49573589	49573589	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactatcttgccacccacagTgacgggtgccatgtctccat	8	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:49573589T>C	uc002pmg.2	-	2	1458	c.1102A>G	c.(1102-1104)ACT>GCT	p.T368A		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related	368						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)	1		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CCACCCACAGTGACGGGTGCC	0.542													C	49573589	T	C	49573589	3	2	27	1	0	0	0	0	1	0	0	0	8008	1696	59	3	272	3	KCNA7	19	49573589	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	175210	49573589	9555394	7847	31798											
PPFIA3	8541	broad.mit.edu	37	chr19	49649227	49649229	+	In_Frame_Del	DEL	GAG	GAG	-													gaaacgtgtggatgacacacGaggagatggagtcccttacg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:49649226_49649228CGAG>C	uc002pmr.3	+	21	3104_3106	c.2772_2774CGAG>C	c.(2770-2775)cacgag>caCg	p.E926del	PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc002pms.3_In_Frame_Del_p.E794del|PPFIA3_uc002pmt.3_In_Frame_Del_p.E74del|PPFIA3_uc002pmu.1_5'Flank	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	926						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGATGACACACGAGGAGATGGAG	0.65											OREG0025618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	49649229	GAG	-	49649227	7	5	27	1	0	1	0	1	0	0	0	0	12311	1059	37	0	2855	0	PPFIA3	19	49649227	In_Frame_Del	DEL	GAG	TCGA-BR-6452-01A-12D-1800-08	75638	49649227	9479756	7848	31799											
CD37	951	broad.mit.edu	37	chr19	49842077	49842077	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttgtcggcgaccaacgacTccacaatcctagataaggtg	9	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:49842077T>A	uc002pnd.2	+	6	689	c.568T>A	c.(568-570)TCC>ACC	p.S190T	uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Missense_Mutation_p.S190T|CD37_uc010yan.1_Missense_Mutation_p.S122T|CD37_uc002pnf.3_Missense_Mutation_p.S162T|CD37_uc002pne.2_Missense_Mutation_p.S122T	NM_001774	NP_001765	P11049	CD37_HUMAN	CD37 antigen isoform A	190	Extracellular (Potential).					integral to membrane					0		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		GACCAACGACTCCACAATCCT	0.607													A	49842077	T	A	49842077	3	1	27	1	0	0	0	0	1	0	0	0	3008	1551	54	5	590	5	CD37	19	49842077	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	192850	49842077	9286906	7849	31800											
TEAD2	8463	broad.mit.edu	37	chr19	49862738	49862738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcagcttgatgtagcggGcgatcagttcattccgacct	10	11	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:49862738G>A	uc002pnj.2	-	3	342	c.251C>T	c.(250-252)GCC>GTC	p.A84V	TEAD2_uc002png.2_Missense_Mutation_p.A84V|TEAD2_uc002pnh.2_Missense_Mutation_p.A84V|TEAD2_uc002pni.2_Missense_Mutation_p.A84V|TEAD2_uc010yao.1_5'UTR|TEAD2_uc010emw.2_Missense_Mutation_p.A84V	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	84	TEA.				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GATGTAGCGGGCGATCAGTTC	0.512													A	49862738	G	A	49862738	3	1	27	1	0	0	0	0	1	0	0	0	15736	1203	42	2	1132	2	TEAD2	19	49862738	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	20661	49862738	9266245	7850	31801											
RCN3	57333	broad.mit.edu	37	chr19	50042431	50042431	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtccaggtggaggagtAcatcggtgagtgggccccaa	15	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:50042431A>T	uc002poj.2	+	5	1121	c.674A>T	c.(673-675)TAC>TTC	p.Y225F		NM_020650	NP_065701	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	225	EF-hand 4.					endoplasmic reticulum lumen	calcium ion binding|protein binding			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		GTGGAGGAGTACATCGGTGAG	0.587													T	50042431	A	T	50042431	3	4	27	1	0	0	0	0	1	0	0	0	13181	391	14	5	688	5	RCN3	19	50042431	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	179693	50042431	9086552	7851	31802											
PRR12	57479	broad.mit.edu	37	chr19	50098300	50098300	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccccccagacccaccaccAcctcctcgccacctcccaac	4	26	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:50098300A>G	uc002poo.3	+	4	708	c.708A>G	c.(706-708)CCA>CCG	p.P236P		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	22	Pro-rich.						DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ACCCACCACCACCTCCTCGCC	0.687													G	50098300	A	G	50098300	2	3	27	1	0	0	0	0	0	0	0	1	12584	146	6	3		3	PRR12	19	50098300	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	55869	50098300	9030683	7852	31803											
SCAF1	58506	broad.mit.edu	37	chr19	50154406	50154406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtacgacccttttgagcccAccggctccaaccccagctca	7	18	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:50154406A>G	uc002poq.2	+	7	884	c.760A>G	c.(760-762)ACC>GCC	p.T254A		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	254	Pro-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TTTTGAGCCCACCGGCTCCAA	0.448													G	50154406	A	G	50154406	3	3	27	1	0	0	0	0	1	0	0	0	13868	159	6	3	782	3	SCAF1	19	50154406	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	56106	50154406	8974577	7853	31804											
CPT1C	126129	broad.mit.edu	37	chr19	50213650	50213650	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgactgccatgtcgttcCattctccctatttggcaaga	8	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:50213650C>A	uc002ppj.2	+	14	1845	c.1640C>A	c.(1639-1641)CCA>CAA	p.P547Q	CPT1C_uc002ppl.3_Missense_Mutation_p.P513Q|CPT1C_uc002ppi.2_Missense_Mutation_p.P464Q|CPT1C_uc002ppk.2_Missense_Mutation_p.P536Q|CPT1C_uc010eng.2_Missense_Mutation_p.P547Q|CPT1C_uc010enh.2_Missense_Mutation_p.P547Q|CPT1C_uc010ybc.1_Missense_Mutation_p.P418Q|CPT1C_uc010eni.1_Missense_Mutation_p.P204Q	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	547	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CATGTCGTTCCATTCTCCCTA	0.547													A	50213650	C	A	50213650	3	1	27	1	0	0	0	0	1	0	0	0	3833	594	21	5	1690	5	CPT1C	19	50213650	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	59244	50213650	8915333	7854	31805											
PNKP	11284	broad.mit.edu	37	chr19	50364536	50364536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaactggcagtacagccgcCccagcctcggctccacccat	9	18	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:50364536C>T	uc002pqh.2	-	16	1587	c.1535G>A	c.(1534-1536)GGG>GAG	p.G512E	PNKP_uc002pqg.2_Missense_Mutation_p.G293E|PNKP_uc002pqi.2_Missense_Mutation_p.G473E|PNKP_uc002pqj.2_Missense_Mutation_p.G512E|PNKP_uc010enm.2_Missense_Mutation_p.G481E|PNKP_uc002pqk.2_3'UTR	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	polynucleotide kinase 3' phosphatase	512					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			ovary(1)|kidney(1)	2		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GTACAGCCGCCCCAGCCTCGG	0.632								Other_BER_factors					T	50364536	C	T	50364536	3	4	27	1	0	0	0	0	1	0	0	0	12147	623	22	4	34	4	PNKP	19	50364536	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	150886	50364536	8764447	7855	31806											
NUP62	23636	broad.mit.edu	37	chr19	50412522	50412522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgtggcaggtgccgtgggCtgggctgaattccctgctga	16	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:50412522C>T	uc002pqx.2	-	2	647	c.543G>A	c.(541-543)CAG>CAA	p.Q181Q	IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Silent_p.Q181Q|NUP62_uc002pqz.2_Silent_p.Q181Q|NUP62_uc002pra.2_Silent_p.Q181Q|NUP62_uc002prb.2_Silent_p.Q181Q|NUP62_uc002prc.2_Silent_p.Q181Q	NM_153719	NP_714941	P37198	NUP62_HUMAN	nucleoporin 62kDa	181	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding				0		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTGCCGTGGGCTGGGCTGAAT	0.627													T	50412522	C	T	50412522	2	4	27	1	0	0	0	0	0	0	0	1	10768	796	28	2		2	NUP62	19	50412522	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	47986	50412522	8716461	7856	31807											
MYH14	79784	broad.mit.edu	37	chr19	50747562	50747562	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccttgaagagagaacggaAcaccgatcaagccaccatgc	10	12	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:50747562A>G	uc002prr.1	+	10	1201	c.1154A>G	c.(1153-1155)AAC>AGC	p.N385S	MYH14_uc010enu.1_Missense_Mutation_p.N393S|MYH14_uc002prq.1_Missense_Mutation_p.N393S	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	385	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGAGAACGGAACACCGATCAA	0.632													G	50747562	A	G	50747562	3	3	27	1	0	0	0	0	1	0	0	0	10033	43	2	3	1216	3	MYH14	19	50747562	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	335040	50747562	8381421	7857	31808											
NAPSA	9476	broad.mit.edu	37	chr19	50861982	50861982	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagggccctgcaggcggaGggacatccagggcctggaaa	17	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:50861982G>T	uc002prx.2	-	9	1144	c.1091C>A	c.(1090-1092)CCT>CAT	p.P364H	NR1H2_uc002prv.3_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	napsin A preproprotein	364					proteolysis	extracellular region	aspartic-type endopeptidase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TGCAGGCGGAGGGACATCCAG	0.637													T	50861982	G	T	50861982	3	4	27	1	0	0	0	0	1	0	0	0	10166	1000	35	5	175	5	NAPSA	19	50861982	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	114420	50861982	8267001	7858	31809											
NAPSA	9476	broad.mit.edu	37	chr19	50862307	50862307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtgaggttaaaccagacCcccccaagaaggaaggagac	12	12	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:50862307C>T	uc002prx.2	-	8	1049	c.996G>A	c.(994-996)GGG>GGA	p.G332G	NR1H2_uc002prv.3_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	napsin A preproprotein	332					proteolysis	extracellular region	aspartic-type endopeptidase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TAAACCAGACCCCCCCAAGAA	0.532													T	50862307	C	T	50862307	2	4	27	1	0	0	0	0	0	0	0	1	10166	610	22	4		4	NAPSA	19	50862307	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	325	50862307	8266676	7859	31810											
NR1H2	7376	broad.mit.edu	37	chr19	50881803	50881803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttctgaagaacagatccGgaagaagaagattcggaaac	10	8	1	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:50881803G>A	uc010enw.2	+	6	773	c.497G>A	c.(496-498)CGG>CAG	p.R166Q	NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Missense_Mutation_p.R166Q|NR1H2_uc002psa.3_Missense_Mutation_p.R69Q	NM_007121	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	166					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GAACAGATCCGGAAGAAGAAG	0.662													A	50881803	G	A	50881803	3	1	27	1	0	0	0	0	1	0	0	0	10617	1116	39	1	511	1	NR1H2	19	50881803	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	19496	50881803	8247180	7860	31811											
POLD1	5424	broad.mit.edu	37	chr19	50905974	50905974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttgcgcgtgctcagcttcGatatcgagtgcgccggccgc	13	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:50905974G>A	uc002psb.3	+	8	1002	c.946G>A	c.(946-948)GAT>AAT	p.D316N	POLD1_uc002psc.3_Missense_Mutation_p.D316N|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.D316N	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	316					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCTCAGCTTCGATATCGAGTG	0.677								DNA_polymerases_(catalytic_subunits)					A	50905974	G	A	50905974	3	1	27	1	0	0	0	0	1	0	0	0	12190	1058	37	1	972	1	POLD1	19	50905974	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	24171	50905974	8223009	7861	31812											
LRRC4B	94030	broad.mit.edu	37	chr19	51022237	51022237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctggaaggagcccgggcGgatcaggtccagccggttgc	16	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:51022237G>A	uc002pss.2	-	3	870	c.733C>T	c.(733-735)CGC>TGC	p.R245C		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	245	Extracellular (Potential).|LRR 7.					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GAGCCCGGGCGGATCAGGTCC	0.657													A	51022237	G	A	51022237	3	1	27	1	0	0	0	0	1	0	0	0	9007	1116	39	1	1412	1	LRRC4B	19	51022237	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	116263	51022237	8106746	7862	31813											
SHANK1	50944	broad.mit.edu	37	chr19	51189547	51189547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagggacgcgaggccacCgggaccagggctttcgcttg	16	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:51189547C>T	uc002psx.1	-	20	2543	c.2524G>A	c.(2524-2526)GGT>AGT	p.G842S	SHANK1_uc002psw.1_Missense_Mutation_p.G226S	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	842					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCGAGGCCACCGGGACCAGGG	0.597													T	51189547	C	T	51189547	3	4	27	1	0	0	0	0	1	0	0	0	14264	652	23	1	3977	1	SHANK1	19	51189547	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	167310	51189547	7939436	7863	31814											
SHANK1	50944	broad.mit.edu	37	chr19	51219729	51219729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatcggggttgaagcgaaGgcatttctggttggggaaga	18	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:51219729G>A	uc002psx.1	-	2	281	c.262C>T	c.(262-264)CTT>TTT	p.L88F		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	88					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TTGAAGCGAAGGCATTTCTGG	0.617													A	51219729	G	A	51219729	3	1	27	1	0	0	0	0	1	0	0	0	14264	1000	35	4	6311	4	SHANK1	19	51219729	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	30182	51219729	7909254	7864	31815											
ACPT	93650	broad.mit.edu	37	chr19	51297733	51297733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgacagcaccctgctggCcctccagggggccctgggcc	14	17	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:51297733C>T	uc002pta.1	+	9	881	c.881C>T	c.(880-882)GCC>GTC	p.A294V		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	testicular acid phosphatase precursor	294	Extracellular (Potential).					integral to membrane	acid phosphatase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ACCCTGCTGGCCCTCCAGGGG	0.617													T	51297733	C	T	51297733	3	4	27	1	0	0	0	0	1	0	0	0	168	739	26	2	915	2	ACPT	19	51297733	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	78004	51297733	7831250	7865	31816											
KLK15	55554	broad.mit.edu	37	chr19	51329891	51329891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgacctcacaggattctgCgcctctgccctccgcgcctg	9	18	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:51329891C>T	uc002ptl.2	-	4	635	c.604G>A	c.(604-606)GCA>ACA	p.A202T	KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Intron|KLK15_uc002pto.2_Missense_Mutation_p.A201T|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Intron|KLK15_uc010eod.2_Intron	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	202	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CAGGATTCTGCGCCTCTGCCC	0.567													T	51329891	C	T	51329891	3	4	27	1	0	0	0	0	1	0	0	0	8403	768	27	1	174	1	KLK15	19	51329891	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	32158	51329891	7799092	7866	31817											
KLK5	25818	broad.mit.edu	37	chr19	51452276	51452276	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtggccagggtgggagtagCcagggtgggggatggatttg	22	4	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:51452276C>A	uc002pue.2	-	5	649	c.431G>T	c.(430-432)GGC>GTC	p.G144V	KLK5_uc002puf.2_Missense_Mutation_p.G144V|KLK5_uc002pug.2_Missense_Mutation_p.G144V	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	144	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GTGGGAGTAGCCAGGGTGGGG	0.517													A	51452276	C	A	51452276	3	1	27	1	0	0	0	0	1	0	0	0	8407	739	26	5	462	5	KLK5	19	51452276	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	122385	51452276	7676707	7867	31818											
KLK6	5653	broad.mit.edu	37	chr19	51465041	51465041	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctcatccccagcacacaAcatgttctgggtgatctggc	8	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:51465041A>C	uc002pui.2	-	6	801	c.541T>G	c.(541-543)TTG>GTG	p.L181V	KLK6_uc010eoj.2_Intron|KLK6_uc002puh.2_Missense_Mutation_p.L190V|KLK6_uc002puj.2_Missense_Mutation_p.L74V|KLK6_uc010ycn.1_Missense_Mutation_p.L74V|KLK6_uc002pul.2_Missense_Mutation_p.L181V|KLK6_uc002pum.2_Missense_Mutation_p.L74V	NM_001012964	NP_001012982	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6 isoform A	181	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		CCAGCACACAACATGTTCTGG	0.463													C	51465041	A	C	51465041	3	2	27	1	0	0	0	0	1	0	0	0	8408	40	2	5	201	5	KLK6	19	51465041	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	12765	51465041	7663942	7868	31819											
KLK10	5655	broad.mit.edu	37	chr19	51518083	51518083	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcgtatgactttattgatCcaggacatgtatttgcagat	10	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:51518083C>T	uc002puy.2	-	6	885	c.804G>A	c.(802-804)TGG>TGA	p.W268*	KLK10_uc002puz.2_Nonsense_Mutation_p.W268*|KLK10_uc002pva.2_Nonsense_Mutation_p.W268*	NM_145888	NP_665895	O43240	KLK10_HUMAN	kallikrein-related peptidase 10 preproprotein	268	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity	p.W268C(1)		lung(2)	2		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CTTTATTGATCCAGGACATGT	0.542													T	51518083	C	T	51518083	4	4	27	1	0	0	0	0	0	1	0	0	8398	856	30	4	30	4	KLK10	19	51518083	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	53042	51518083	7610900	7869	31820											
CD33	945	broad.mit.edu	37	chr19	51728581	51728581	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttccatcccatacccTactacgacaagaactcccca	2	18	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:51728581T>C	uc002pwa.2	+	2	185	c.145T>C	c.(145-147)TAC>CAC	p.Y49H	CD33_uc010eos.1_Missense_Mutation_p.Y49H|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor	49	Extracellular (Potential).|Ig-like V-type.				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)	TCCCATACCCTACTACGACAA	0.517													C	51728581	T	C	51728581	3	2	27	1	0	0	0	0	1	0	0	0	3005	1522	53	3	151	3	CD33	19	51728581	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	210498	51728581	7400402	7870	31821											
NKG7	4818	broad.mit.edu	37	chr19	51875747	51875747	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatcaggcagaacatcaggcCcagggagccccccagcaggg	13	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:51875747C>A	uc002pwj.2	-	1	214	c.43G>T	c.(43-45)GGC>TGC	p.G15C	NKG7_uc002pwk.2_Missense_Mutation_p.G15C	NM_005601	NP_005592	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	15	Helical; (Potential).					integral to plasma membrane				central_nervous_system(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AACATCAGGCCCAGGGAGCCC	0.507													A	51875747	C	A	51875747	3	1	27	1	0	0	0	0	1	0	0	0	10443	623	22	5	470	5	NKG7	19	51875747	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	147166	51875747	7253236	7871	31822											
SIGLEC5	8778	broad.mit.edu	37	chr19	52132322	52132322	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagatggtgatggtctgTggagcatctgggataaaaag	15	4	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:52132322T>C	uc002pxe.2	-	4	847	c.708A>G	c.(706-708)CCA>CCG	p.P236P		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	236	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TGATGGTCTGTGGAGCATCTG	0.527													C	52132322	T	C	52132322	2	2	27	1	0	0	0	0	0	0	0	1	14311	1683	59	3		3	SIGLEC5	19	52132322	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	256575	52132322	6996661	7872	31823											
HAS1	3036	broad.mit.edu	37	chr19	52216730	52216730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccggcaaagcctccgcaCgcccacccagtacagcgtca	9	20	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:52216730C>T	uc002pxo.1	-	5	1722	c.1687G>A	c.(1687-1689)GTG>ATG	p.V563M	HAS1_uc010epc.1_Missense_Mutation_p.V163M|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxn.1_Missense_Mutation_p.V570M|HAS1_uc002pxp.1_Missense_Mutation_p.V562M	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	563	Extracellular (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGCCTCCGCACGCCCACCCAG	0.721													T	52216730	C	T	52216730	3	4	27	1	0	0	0	0	1	0	0	0	6961	536	19	1	53	1	HAS1	19	52216730	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	84408	52216730	6912253	7873	31824											
HAS1	3036	broad.mit.edu	37	chr19	52219570	52219570	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggtcatccccaaaagtacAgtgggtacccaggaacttct	9	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:52219570A>C	uc002pxo.1	-	4	1035	c.1000T>G	c.(1000-1002)TGT>GGT	p.C334G	HAS1_uc010epc.1_Intron|HAS1_uc010epd.1_Missense_Mutation_p.C299G|HAS1_uc002pxn.1_Missense_Mutation_p.C341G|HAS1_uc002pxp.1_Missense_Mutation_p.C333G	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	334	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	p.C334Y(1)		ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCAAAAGTACAGTGGGTACCC	0.542													C	52219570	A	C	52219570	3	2	27	1	0	0	0	0	1	0	0	0	6961	188	7	5	744	5	HAS1	19	52219570	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2840	52219570	6909413	7874	31825											
FPR3	2359	broad.mit.edu	37	chr19	52327875	52327875	+	Frame_Shift_Del	DEL	T	T	-													acccaacaagctccttggccTtttttaacagctgcctcaac							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:52327874_52327874CT>C	uc002pxt.1	+	1	1057	c.873_873CT>C	c.(871-873)gccfs	p.A291fs	FPR3_uc021uyq.1_Frame_Shift_Del_p.A291fs	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	291					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GCTCCTTGGCCTTTTTTAACA	0.428													-	52327875	T	-	52327875	7	5	27	1	0	1	0	1	0	0	0	0	6040	1609	56	0	876	0	FPR3	19	52327875	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	108305	52327875	6801108	7875	31826											
ZNF649	65251	broad.mit.edu	37	chr19	52399760	52399760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggatttcatcttctagtGtccatagtggttctccttgt	9	8	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:52399760G>A	uc002pxy.2	-	4	471	c.203C>T	c.(202-204)ACA>ATA	p.T68I		NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	zinc finger protein 649	68	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		ATCTTCTAGTGTCCATAGTGG	0.498													A	52399760	G	A	52399760	3	1	27	1	0	0	0	0	1	0	0	0	18061	1377	48	4	1322	4	ZNF649	19	52399760	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	71885	52399760	6729223	7876	31827											
ZNF613	79898	broad.mit.edu	37	chr19	52448122	52448122	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gaaggccttctccaaaaggtCcaggctcactgaacaccaga	9	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:52448122C>G	uc002pxz.1	+	6	1409	c.986C>G	c.(985-987)TCC>TGC	p.S329C	ZNF613_uc002pya.1_Missense_Mutation_p.S293C	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	329	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TCCAAAAGGTCCAGGCTCACT	0.473													G	52448122	C	G	52448122	3	3	27	1	0	0	0	0	1	0	0	0	18035	855	30	5	1000	5	ZNF613	19	52448122	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	48362	52448122	6680861	7877	31828											
ZNF613	79898	broad.mit.edu	37	chr19	52448840	52448840	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatacaggataaagactcTgttaacatggtgactctgca	8	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:52448840T>C	uc002pxz.1	+	6	2127	c.1704T>C	c.(1702-1704)TCT>TCC	p.S568S	ZNF613_uc002pya.1_Silent_p.S532S	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		ATAAAGACTCTGTTAACATGG	0.443													C	52448840	T	C	52448840	2	2	27	1	0	0	0	0	0	0	0	1	18035	1567	55	3		3	ZNF613	19	52448840	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	718	52448840	6680143	7878	31829											
ZNF350	59348	broad.mit.edu	37	chr19	52469030	52469030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctctcctgtatgcattaCctggtgatcagttagccaag	8	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:52469030C>T	uc002pyd.2	-	5	904	c.676G>A	c.(676-678)GTA>ATA	p.V226I	uc002pyb.2_Intron|uc002pyc.2_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	226	C2H2-type 1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(1)	1		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		GTATGCATTACCTGGTGATCA	0.438													T	52469030	C	T	52469030	3	4	27	1	0	0	0	0	1	0	0	0	17860	507	18	4	926	4	ZNF350	19	52469030	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	20190	52469030	6659953	7879	31830											
ZNF615	284370	broad.mit.edu	37	chr19	52496490	52496490	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtatgagtttgctgatgTatactgagagtactcttcat	9	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:52496490T>C	uc002pye.1	-	6	2131	c.1839A>G	c.(1837-1839)ATA>ATG	p.I613M	ZNF615_uc002pyf.1_Missense_Mutation_p.I624M|ZNF615_uc002pyg.1_Missense_Mutation_p.I505M|ZNF615_uc002pyh.1_Missense_Mutation_p.I624M|ZNF615_uc010epi.1_Missense_Mutation_p.I620M|ZNF615_uc010ydg.1_Missense_Mutation_p.I618M	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	613	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TTTGCTGATGTATACTGAGAG	0.408													C	52496490	T	C	52496490	3	2	27	1	0	0	0	0	1	0	0	0	18037	1628	57	3	360	3	ZNF615	19	52496490	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	27460	52496490	6632493	7880	31831											
ZNF614	80110	broad.mit.edu	37	chr19	52520093	52520093	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacagattttgtctgttgtaTtagttttcagatgcttagtg	9	4	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:52520093T>C	uc002pyj.2	-	5	1160	c.758A>G	c.(757-759)AAT>AGT	p.N253S	ZNF614_uc002pyi.3_Intron|ZNF614_uc010epj.2_5'UTR	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	zinc finger protein 614	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTCTGTTGTATTAGTTTTCAG	0.363													C	52520093	T	C	52520093	3	2	27	1	0	0	0	0	1	0	0	0	18036	1493	52	3	1003	3	ZNF614	19	52520093	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	23603	52520093	6608890	7881	31832											
ZNF614	80110	broad.mit.edu	37	chr19	52521298	52521298	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaattttagcatctgttgtCcatggttcttgtccatgtgc	9	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:52521298C>T	uc002pyj.2	-	4	603	c.201G>A	c.(199-201)TGG>TGA	p.W67*	ZNF614_uc002pyi.3_Nonsense_Mutation_p.W67*|ZNF614_uc010epj.2_5'UTR	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	zinc finger protein 614	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CATCTGTTGTCCATGGTTCTT	0.408													T	52521298	C	T	52521298	4	4	27	1	0	0	0	0	0	1	0	0	18036	856	30	4	1564	4	ZNF614	19	52521298	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1205	52521298	6607685	7882	31833											
ZNF432	9668	broad.mit.edu	37	chr19	52537719	52537719	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggaaagccttttccacattCactgcatatgtagggtttct	9	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:52537719C>T	uc002pyk.2	-	5	1531	c.1213G>A	c.(1213-1215)GAA>AAA	p.E405K		NM_014650	NP_055465	O94892	ZN432_HUMAN	zinc finger protein 432	405	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|pancreas(1)	3		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TTTCCACATTCACTGCATATG	0.388													T	52537719	C	T	52537719	3	4	27	1	0	0	0	0	1	0	0	0	17903	835	29	4	749	4	ZNF432	19	52537719	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	16421	52537719	6591264	7883	31834											
ZNF616	90317	broad.mit.edu	37	chr19	52619658	52619658	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtcttacaaaatatgaAttttttctgaagatcttgcc	7	6	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:52619658A>T	uc002pym.2	-	4	1042	c.759T>A	c.(757-759)AAT>AAA	p.N253K	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	253	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CAAAATATGAATTTTTTCTGA	0.398													T	52619658	A	T	52619658	3	4	27	1	0	0	0	0	1	0	0	0	18038	98	4	5	1590	5	ZNF616	19	52619658	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	81939	52619658	6509325	7884	31835											
ZNF836	162962	broad.mit.edu	37	chr19	52658789	52658789	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtggtttctccccagtaGgatttctgtgatatcttgca	10	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:52658789G>T	uc010ydi.1	-	5	2521	c.2147C>A	c.(2146-2148)CCT>CAT	p.P716H	ZNF836_uc010ydj.1_Missense_Mutation_p.P716H	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	716	C2H2-type 18; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTCCCCAGTAGGATTTCTGTG	0.398													T	52658789	G	T	52658789	3	4	27	1	0	0	0	0	1	0	0	0	18184	1000	35	5	665	5	ZNF836	19	52658789	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	39131	52658789	6470194	7885	31836											
ZNF836	162962	broad.mit.edu	37	chr19	52659094	52659094	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattgaagaccttgccacaCacattacatttgtaaggttt	6	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:52659094C>T	uc010ydi.1	-	5	2216	c.1842G>A	c.(1840-1842)GTG>GTA	p.V614V	ZNF836_uc010ydj.1_Silent_p.V614V	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	614	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCTTGCCACACACATTACATT	0.408													T	52659094	C	T	52659094	2	4	27	1	0	0	0	0	0	0	0	1	18184	465	17	4		4	ZNF836	19	52659094	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	305	52659094	6469889	7886	31837											
ZNF836	162962	broad.mit.edu	37	chr19	52659268	52659268	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaccttgccacacacattAcatttgtaaggttgctcccc	6	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:52659268A>G	uc010ydi.1	-	5	2042	c.1668T>C	c.(1666-1668)TGT>TGC	p.C556C	ZNF836_uc010ydj.1_Silent_p.C556C	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	556	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CACACACATTACATTTGTAAG	0.383													G	52659268	A	G	52659268	2	3	27	1	0	0	0	0	0	0	0	1	18184	389	14	3		3	ZNF836	19	52659268	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	174	52659268	6469715	7887	31838											
ZNF766	90321	broad.mit.edu	37	chr19	52785388	52785388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgacattcagggacgtgGccatagaattctctcaggag	11	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:52785388G>A	uc002pyr.1	+	2	86	c.43G>A	c.(43-45)GCC>ACC	p.A15T	ZNF766_uc002pys.1_Missense_Mutation_p.A15T|ZNF766_uc002pyt.1_Missense_Mutation_p.A30T	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN	zinc finger protein 766	15	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		CAGGGACGTGGCCATAGAATT	0.453													A	52785388	G	A	52785388	3	1	27	1	0	0	0	0	1	0	0	0	18137	1203	42	2	49	2	ZNF766	19	52785388	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	126120	52785388	6343595	7888	31839											
ZNF808	388558	broad.mit.edu	37	chr19	53056557	53056557	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggccatgaagcacccacgAcaaaaataaaaaagttgact	7	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:53056557A>G	uc010epq.1	+	5	565	c.388A>G	c.(388-390)ACA>GCA	p.T130A	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AGCACCCACGACAAAAATAAA	0.383													G	53056557	A	G	53056557	3	3	27	1	0	0	0	0	1	0	0	0	18170	275	10	3	398	3	ZNF808	19	53056557	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	271169	53056557	6072426	7889	31840											
ZNF808	388558	broad.mit.edu	37	chr19	53057596	53057596	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggcacgacatagaagaaTtcacactggagagaaaactt	10	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:53057596T>C	uc010epq.1	+	5	1604	c.1427T>C	c.(1426-1428)ATT>ACT	p.I476T	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	476	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CATAGAAGAATTCACACTGGA	0.418													C	53057596	T	C	53057596	3	2	27	1	0	0	0	0	1	0	0	0	18170	1493	52	3	1437	3	ZNF808	19	53057596	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1039	53057596	6071387	7890	31841											
ZNF701	55762	broad.mit.edu	37	chr19	53085914	53085914	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatttcctccagtcttcatTactcacacaaaaacgggaag	5	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:53085914T>C	uc002pzs.1	+	4	729	c.602T>C	c.(601-603)TTA>TCA	p.L201S	ZNF701_uc010ydn.1_Missense_Mutation_p.L267S	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	zinc finger protein 701	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		CAGTCTTCATTACTCACACAA	0.373													C	53085914	T	C	53085914	3	2	27	1	0	0	0	0	1	0	0	0	18102	1764	61	3	814	3	ZNF701	19	53085914	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	28318	53085914	6043069	7891	31842											
ZNF83	55769	broad.mit.edu	37	chr19	53116566	53116566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtatgaattctccaatgatAtgcaaggtatgaattttgac	8	5	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:53116566A>G	uc002pzu.3	-	2	2496	c.1252T>C	c.(1252-1254)TAT>CAT	p.Y418H	ZNF83_uc002pzv.3_Missense_Mutation_p.Y418H|ZNF83_uc010eps.2_Missense_Mutation_p.Y390H|ZNF83_uc010ept.2_Missense_Mutation_p.Y418H|ZNF83_uc010epu.2_Missense_Mutation_p.Y418H|ZNF83_uc010epv.2_Missense_Mutation_p.Y418H|ZNF83_uc010epw.2_Missense_Mutation_p.Y418H|ZNF83_uc010epx.2_Missense_Mutation_p.Y390H|ZNF83_uc010epy.2_Missense_Mutation_p.Y418H|ZNF83_uc010epz.2_Missense_Mutation_p.Y390H	NM_018300	NP_060770	P51522	ZNF83_HUMAN	zinc finger protein 83 isoform a	418	C2H2-type 12.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTCCAATGATATGCAAGGTAT	0.363													G	53116566	A	G	53116566	3	3	27	1	0	0	0	0	1	0	0	0	18180	449	16	3	302	3	ZNF83	19	53116566	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	30652	53116566	6012417	7892	31843											
ZNF83	55769	broad.mit.edu	37	chr19	53117122	53117122	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacatttgttacattcgtaAggtttttctccagtatgaat	6	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:53117122A>C	uc002pzu.3	-	2	1940	c.696T>G	c.(694-696)CCT>CCG	p.P232P	ZNF83_uc002pzv.3_Silent_p.P232P|ZNF83_uc010eps.2_Silent_p.P232P|ZNF83_uc010ept.2_Silent_p.P232P|ZNF83_uc010epu.2_Silent_p.P232P|ZNF83_uc010epv.2_Silent_p.P232P|ZNF83_uc010epw.2_Silent_p.P232P|ZNF83_uc010epx.2_Silent_p.P232P|ZNF83_uc010epy.2_Silent_p.P232P|ZNF83_uc010epz.2_Silent_p.P232P|ZNF83_uc010eqb.1_Silent_p.P232P	NM_018300	NP_060770	P51522	ZNF83_HUMAN	zinc finger protein 83 isoform a	232						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TACATTCGTAAGGTTTTTCTC	0.378													C	53117122	A	C	53117122	2	2	27	1	0	0	0	0	0	0	0	1	18180	59	3	5		5	ZNF83	19	53117122	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	556	53117122	6011861	7893	31844											
ZNF611	81856	broad.mit.edu	37	chr19	53209608	53209608	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaggctttgccactcttatTacattggaaagatttttctc	6	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:53209608T>G	uc002pzz.2	-	7	1017	c.700A>C	c.(700-702)AAT>CAT	p.N234H	ZNF611_uc010eqc.2_Missense_Mutation_p.N164H|ZNF611_uc010ydo.1_Missense_Mutation_p.N164H|ZNF611_uc010ydr.1_Missense_Mutation_p.N165H|ZNF611_uc010ydp.1_Missense_Mutation_p.N234H|ZNF611_uc010ydq.1_Missense_Mutation_p.N234H|ZNF611_uc002qaa.3_Missense_Mutation_p.N164H	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	234	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		CCACTCTTATTACATTGGAAA	0.368													G	53209608	T	G	53209608	3	3	27	1	0	0	0	0	1	0	0	0	18034	1754	61	5	1421	5	ZNF611	19	53209608	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	92486	53209608	5919375	7894	31845											
ZNF611	81856	broad.mit.edu	37	chr19	53210049	53210049	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtctttgcaatgtccctgTgtggatcacttctgtattgc	9	9	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:53210049T>C	uc002pzz.2	-	7	576	c.259A>G	c.(259-261)ACA>GCA	p.T87A	ZNF611_uc010eqc.2_Missense_Mutation_p.T17A|ZNF611_uc010ydo.1_Missense_Mutation_p.T17A|ZNF611_uc010ydr.1_Missense_Mutation_p.T18A|ZNF611_uc010ydp.1_Missense_Mutation_p.T87A|ZNF611_uc010ydq.1_Missense_Mutation_p.T87A|ZNF611_uc002qaa.3_Missense_Mutation_p.T17A	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	87	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AATGTCCCTGTGTGGATCACT	0.373													C	53210049	T	C	53210049	3	2	27	1	0	0	0	0	1	0	0	0	18034	1696	59	3	1862	3	ZNF611	19	53210049	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	441	53210049	5918934	7895	31846											
ZNF600	162966	broad.mit.edu	37	chr19	53270810	53270810	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgttggtctgtgctaccagTcaacttttttatttttgtca	7	7	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:53270810T>A	uc002qab.3	-	3	485	c.199A>T	c.(199-201)ACT>TCT	p.T67S		NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GTGCTACCAGTCAACTTTTTT	0.388													A	53270810	T	A	53270810	3	1	27	1	0	0	0	0	1	0	0	0	18027	1667	58	5	1973	5	ZNF600	19	53270810	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	60761	53270810	5858173	7896	31847											
ZNF28	7576	broad.mit.edu	37	chr19	53303561	53303561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagtatgaactctctgatGttctgtaaggcatgaatcac	8	9	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:53303561G>A	uc002qad.2	-	4	1657	c.1537C>T	c.(1537-1539)CAT>TAT	p.H513Y	ZNF28_uc002qac.2_Missense_Mutation_p.H460Y|ZNF28_uc010eqe.2_Missense_Mutation_p.H459Y	NM_006969	NP_008900	P17035	ZNF28_HUMAN	zinc finger protein 28	513	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ACTCTCTGATGTTCTGTAAGG	0.388													A	53303561	G	A	53303561	3	1	27	1	0	0	0	0	1	0	0	0	17810	1377	48	4	623	4	ZNF28	19	53303561	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	32751	53303561	5825422	7897	31848											
ZNF320	162967	broad.mit.edu	37	chr19	53384506	53384506	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagtatgaactgccttAtgaattacgaggactgaatt	9	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:53384506A>T	uc002qag.2	-	4	1064	c.873T>A	c.(871-873)CAT>CAA	p.H291Q	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.H237Q|ZNF320_uc002qai.2_Missense_Mutation_p.H291Q	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	291	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		GAACTGCCTTATGAATTACGA	0.428													T	53384506	A	T	53384506	3	4	27	1	0	0	0	0	1	0	0	0	17836	446	16	5	660	5	ZNF320	19	53384506	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	80945	53384506	5744477	7898	31849											
ZNF160	90338	broad.mit.edu	37	chr19	53572543	53572543	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtgtggattgtctgaTggattgctaggcttgaacga	13	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:53572543T>C	uc010eqk.2	-	7	1660	c.1244A>G	c.(1243-1245)CAT>CGT	p.H415R	ZNF160_uc002qaq.3_Missense_Mutation_p.H415R|ZNF160_uc002qar.3_Missense_Mutation_p.H415R	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	415	C2H2-type 6.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(134;0.02)		GATTGTCTGATGGATTGCTAG	0.418													C	53572543	T	C	53572543	3	2	27	1	0	0	0	0	1	0	0	0	17736	1464	51	3	1216	3	ZNF160	19	53572543	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	188037	53572543	5556440	7899	31850											
ZNF415	55786	broad.mit.edu	37	chr19	53612488	53612488	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcattacatttgtatggTttctctccagtatgaactct	5	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:53612488T>C	uc002qax.2	-	7	1303	c.954A>G	c.(952-954)AAA>AAG	p.K318K	ZNF415_uc002qat.2_Silent_p.K282K|ZNF415_uc002qaw.2_Silent_p.K270K|ZNF415_uc010yds.1_Silent_p.K270K|ZNF415_uc010ydt.1_Silent_p.K270K|ZNF415_uc002qau.2_Silent_p.K257K|ZNF415_uc002qav.2_Silent_p.K282K|ZNF415_uc002qba.2_Silent_p.K40K|ZNF415_uc002qay.2_Silent_p.K257K|ZNF415_uc002qaz.2_Silent_p.K318K	NR_028343		Q09FC8	ZN415_HUMAN	RecName: Full=Zinc finger protein 415;	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.0191)		ATTTGTATGGTTTCTCTCCAG	0.408													C	53612488	T	C	53612488	2	2	27	1	0	0	0	0	0	0	0	1	17889	1722	60	3		3	ZNF415	19	53612488	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	39945	53612488	5516495	7900	31851											
ZNF415	55786	broad.mit.edu	37	chr19	53612818	53612818	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaacatggttacattcAtaaattttcccttcagcttg	4	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:53612818A>G	uc002qax.2	-	7	973	c.624T>C	c.(622-624)TAT>TAC	p.Y208Y	ZNF415_uc002qat.2_Silent_p.Y172Y|ZNF415_uc002qaw.2_Silent_p.Y160Y|ZNF415_uc010yds.1_Silent_p.Y160Y|ZNF415_uc010ydt.1_Silent_p.Y160Y|ZNF415_uc002qau.2_Silent_p.Y147Y|ZNF415_uc002qav.2_Silent_p.Y172Y|ZNF415_uc002qba.2_5'UTR|ZNF415_uc002qay.2_Silent_p.Y147Y|ZNF415_uc002qaz.2_Silent_p.Y208Y	NR_028343		Q09FC8	ZN415_HUMAN	RecName: Full=Zinc finger protein 415;	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.0191)		GGTTACATTCATAAATTTTCC	0.378													G	53612818	A	G	53612818	2	3	27	1	0	0	0	0	0	0	0	1	17889	224	8	3		3	ZNF415	19	53612818	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	330	53612818	5516165	7901	31852											
ZNF347	84671	broad.mit.edu	37	chr19	53645574	53645574	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgcatctcttttatcatgTtcatctcttccatgagtgag	6	10	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:53645574T>G	uc002qbb.1	-	5	576	c.507A>C	c.(505-507)GAA>GAC	p.E169D	ZNF347_uc010eql.1_Missense_Mutation_p.E170D|ZNF347_uc002qbc.1_Missense_Mutation_p.E170D	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		TTTTATCATGTTCATCTCTTC	0.388													G	53645574	T	G	53645574	3	3	27	1	0	0	0	0	1	0	0	0	17858	1722	60	5	2016	5	ZNF347	19	53645574	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	32756	53645574	5483409	7902	31853											
ZNF665	79788	broad.mit.edu	37	chr19	53669504	53669504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagcctacagtgtcacagCtttcaagtctctccaacttc	5	14	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:53669504C>T	uc010eqm.1	-	4	339	c.239G>A	c.(238-240)AGC>AAC	p.S80N		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		AGTGTCACAGCTTTCAAGTCT	0.403													T	53669504	C	T	53669504	3	4	27	1	0	0	0	0	1	0	0	0	18070	797	28	2	1801	2	ZNF665	19	53669504	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	23930	53669504	5459479	7903	31854											
ZNF765	91661	broad.mit.edu	37	chr19	53911171	53911171	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcaaaaagttgacaggTagtacagagcgatatgatca	9	5	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:53911171T>C	uc010ydx.1	+	6	690	c.363T>C	c.(361-363)GGT>GGC	p.G121G	ZNF765_uc002qbm.2_Silent_p.G121G|ZNF765_uc002qbn.2_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00379)		AGTTGACAGGTAGTACAGAGC	0.368													C	53911171	T	C	53911171	2	2	27	1	0	0	0	0	0	0	0	1	18136	1625	57	3		3	ZNF765	19	53911171	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	241667	53911171	5217812	7904	31855											
ZNF813	126017	broad.mit.edu	37	chr19	53994137	53994137	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagaaaagtctttccaatgTaatgagagtggcaaagcctt	10	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:53994137T>C	uc002qbu.2	+	4	779	c.651T>C	c.(649-651)TGT>TGC	p.C217C	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	217	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CTTTCCAATGTAATGAGAGTG	0.348													C	53994137	T	C	53994137	2	2	27	1	0	0	0	0	0	0	0	1	18172	1644	57	3		3	ZNF813	19	53994137	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	82966	53994137	5134846	7905	31856											
DPRX	503834	broad.mit.edu	37	chr19	54139969	54139969	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtctccaccagtgtcggcctGagaaatgcagacacactacc	9	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:54139969G>A	uc002qcf.1	+	3	354	c.303G>A	c.(301-303)CTG>CTA	p.L101L		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		GTGTCGGCCTGAGAAATGCAG	0.527													A	54139969	G	A	54139969	2	1	27	1	0	0	0	0	0	0	0	1	4738	1277	45	4		4	DPRX	19	54139969	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	145832	54139969	4989014	7906	31857											
PRKCG	5582	broad.mit.edu	37	chr19	54401279	54401279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagtcccaccgaccccaagCgctgcttcttcggggcgagt	11	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:54401279C>T	uc002qcq.1	+	10	1288	c.1006C>T	c.(1006-1008)CGC>TGC	p.R336C	PRKCG_uc010yef.1_Silent_p.S306S|PRKCG_uc010yeg.1_Missense_Mutation_p.R336C|PRKCG_uc010yeh.1_Missense_Mutation_p.R223C	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	336					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CGACCCCAAGCGCTGCTTCTT	0.483													T	54401279	C	T	54401279	3	4	27	1	0	0	0	0	1	0	0	0	12512	768	27	1	1044	1	PRKCG	19	54401279	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	261310	54401279	4727704	7907	31858											
CACNG7	59284	broad.mit.edu	37	chr19	54444820	54444820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcagtattttcattatcGctacgggtggtcttttgcct	10	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:54444820G>A	uc002qcr.1	+	4	536	c.521G>A	c.(520-522)CGC>CAC	p.R174H	CACNG7_uc010era.1_Missense_Mutation_p.R174H	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	174					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TTTCATTATCGCTACGGGTGG	0.527													A	54444820	G	A	54444820	3	1	27	1	0	0	0	0	1	0	0	0	2562	1087	38	1	535	1	CACNG7	19	54444820	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	43541	54444820	4684163	7908	31859											
PRPF31	26121	broad.mit.edu	37	chr19	54627208	54627208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaacgcctccaagcaccGcatctacgagtatgtggagt	11	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:54627208G>A	uc002qdh.2	+	7	1004	c.608G>A	c.(607-609)CGC>CAC	p.R203H	PRPF31_uc010yek.1_Missense_Mutation_p.R203H	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31 homolog	203	Nop.|				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			ovary(1)	1	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCCAAGCACCGCATCTACGAG	0.652													A	54627208	G	A	54627208	3	1	27	1	0	0	0	0	1	0	0	0	12566	1087	38	1	630	1	PRPF31	19	54627208	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	182388	54627208	4501775	7909	31860											
RPS9	6203	broad.mit.edu	37	chr19	54710226	54710226	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gattacatcctgggcctgaaGatagaggatttcttagagag	12	6	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:54710226G>A	uc002qdx.2	+	4	359	c.303G>A	c.(301-303)AAG>AAA	p.K101K	RPS9_uc002qdy.2_Intron|RPS9_uc002qdz.2_Silent_p.K101K|RPS9_uc002qea.2_Silent_p.K101K|RPS9_uc002qeb.2_Silent_p.K101K|RPS9_uc002qec.2_RNA|RPS9_uc002qed.1_Silent_p.K101K	NM_001013	NP_001004	P46781	RS9_HUMAN	ribosomal protein S9	101					endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity			breast(1)	1	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		TGGGCCTGAAGATAGAGGATT	0.602													A	54710226	G	A	54710226	2	1	27	1	0	0	0	0	0	0	0	1	13662	933	33	4		4	RPS9	19	54710226	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	83018	54710226	4418757	7910	31861											
LILRB2	10288	broad.mit.edu	37	chr19	54780709	54780709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcggaggatgaggaagaGgaggaggaggaggaggagca	22	2	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:54780709G>A	uc002qfb.2	-	10	1701	c.1435C>T	c.(1435-1437)CTC>TTC	p.L479F	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.L479F|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.L478F|LILRB2_uc010yet.1_Missense_Mutation_p.L363F	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	479	Helical; (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			skin(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		atgaggaagaggaggaggagg	0.488													A	54780709	G	A	54780709	3	1	27	1	0	0	0	0	1	0	0	0	8791	1000	35	4	381	4	LILRB2	19	54780709	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	70483	54780709	4348274	7911	31862											
LENG8	114823	broad.mit.edu	37	chr19	54966185	54966185	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaagcgaccctttgctgtTaccacccagagctttggctc	9	14	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:54966185T>C	uc002qfv.1	+	6	768	c.624T>C	c.(622-624)GTT>GTC	p.V208V	LENG8_uc002qfw.2_Silent_p.V245V			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	208							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CCTTTGCTGTTACCACCCAGA	0.597													C	54966185	T	C	54966185	2	2	27	1	0	0	0	0	0	0	0	1	8724	1741	61	3		3	LENG8	19	54966185	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	185476	54966185	4162798	7912	31863											
LENG8	114823	broad.mit.edu	37	chr19	54969365	54969365	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggcaatgtgggcgagttTactgcctaccgaatcctcta	10	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:54969365T>C	uc002qfv.1	+	13	2019	c.1875T>C	c.(1873-1875)TTT>TTC	p.F625F	LENG8_uc002qfw.2_Silent_p.F662F			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	625							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TGGGCGAGTTTACTGCCTACC	0.577													C	54969365	T	C	54969365	2	2	27	1	0	0	0	0	0	0	0	1	8724	1751	61	3		3	LENG8	19	54969365	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3180	54969365	4159618	7913	31864											
LENG8	114823	broad.mit.edu	37	chr19	54969555	54969555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatccttgcgtggcccacGccttggcattaaggacagcc	11	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:54969555G>A	uc002qfv.1	+	14	2128	c.1984G>A	c.(1984-1986)GCC>ACC	p.A662T	LENG8_uc002qfw.2_Missense_Mutation_p.A699T			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	662							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CGTGGCCCACGCCTTGGCATT	0.577													A	54969555	G	A	54969555	3	1	27	1	0	0	0	0	1	0	0	0	8724	1087	38	1	2149	1	LENG8	19	54969555	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	190	54969555	4159428	7914	31865											
LILRA1	11024	broad.mit.edu	37	chr19	55106363	55106363	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtatcgctgtttctacggtAgccacactgcaggctggtca	12	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:55106363A>G	uc002qgh.1	+	4	486	c.304A>G	c.(304-306)AGC>GGC	p.S102G	LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.S102G	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	102	Ig-like C2-type 1.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		TTTCTACGGTAGCCACACTGC	0.607													G	55106363	A	G	55106363	3	3	27	1	0	0	0	0	1	0	0	0	8784	420	15	3	314	3	LILRA1	19	55106363	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	136808	55106363	4022620	7915	31866											
LILRA1	11024	broad.mit.edu	37	chr19	55107772	55107772	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacactttccttctgaccaaGgcgggagcagctgatgcccc	10	15	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:55107772G>A	uc002qgh.1	+	7	1259	c.1077G>A	c.(1075-1077)AAG>AAA	p.K359K	LILRA2_uc010yfg.1_Silent_p.K357K|LILRA1_uc010yfh.1_Silent_p.K359K	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	359	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		TTCTGACCAAGGCGGGAGCAG	0.587													A	55107772	G	A	55107772	2	1	27	1	0	0	0	0	0	0	0	1	8784	991	35	4		4	LILRA1	19	55107772	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1409	55107772	4021211	7916	31867											
KIR2DL1	3802	broad.mit.edu	37	chr19	55282338	55282338	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcctggccacatgagggTgagtccttctcccaaccttc	12	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:55282338T>C	uc002qhb.1	+	2	108	c.70_splice	c.e2+2	p.G24_splice	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Splice_Site_p.G24_splice	NM_014218	NP_055033	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two						immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		CACATGAGGGTGAGTCCTTCT	0.542													C	55282338	T	C	55282338	5	2	27	1	0	0	0	0	0	0	1	0	8316	1710	59	3	78	3	KIR2DL1	19	55282338	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	174566	55282338	3846645	7917	31868											
NLRP7	199713	broad.mit.edu	37	chr19	55445028	55445028	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggttcttggccaagcacaGgtgtgtcagcttcttgctga	14	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:55445028G>T	uc002qih.3	-	8	2627	c.2551C>A	c.(2551-2553)CTG>ATG	p.L851M	NLRP7_uc002qig.3_Missense_Mutation_p.L823M|NLRP7_uc002qii.3_Missense_Mutation_p.L851M|NLRP7_uc010esk.2_Missense_Mutation_p.L851M|NLRP7_uc010esl.2_Missense_Mutation_p.L879M	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	851	LRR 6.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		GCCAAGCACAGGTGTGTCAGC	0.478													T	55445028	G	T	55445028	3	4	27	1	0	0	0	0	1	0	0	0	10482	991	35	5	578	5	NLRP7	19	55445028	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	162690	55445028	3683955	7918	31869											
GP6	51206	broad.mit.edu	37	chr19	55539169	55539169	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgacactgtagggttacGtcccctcctgacgacaccgc	10	15	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:55539169G>A	uc002qik.2	-	4	415	c.387C>T	c.(385-387)GAC>GAT	p.D129D	GP6_uc002qil.2_Silent_p.D129D|GP6_uc010esq.2_Silent_p.D129D|RDH13_uc010esr.1_RNA	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet) isoform 2	129	Ig-like C2-type 2.|Extracellular (Potential).				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		GTAGGGTTACGTCCCCTCCTG	0.567													A	55539169	G	A	55539169	2	1	27	1	0	0	0	0	0	0	0	1	6584	1136	40	1		1	GP6	19	55539169	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	94141	55539169	3589814	7919	31870											
EPS8L1	54869	broad.mit.edu	37	chr19	55597335	55597335	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggtcaagcagcgggacgtActggaggttagaggagcggg	19	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:55597335A>G	uc002qis.3	+	15	1616	c.1512A>G	c.(1510-1512)GTA>GTG	p.V504V	EPS8L1_uc010ess.1_Silent_p.V518V|EPS8L1_uc010yfr.1_Silent_p.V440V|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Silent_p.V377V|EPS8L1_uc002qiv.2_Silent_p.V182V|EPS8L1_uc002qiw.2_Silent_p.V283V	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	epidermal growth factor receptor pathway	504	SH3.					cytoplasm					0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AGCGGGACGTACTGGAGGTTA	0.577													G	55597335	A	G	55597335	2	3	27	1	0	0	0	0	0	0	0	1	5195	378	14	3		3	EPS8L1	19	55597335	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	58166	55597335	3531648	7920	31871											
TNNT1	7138	broad.mit.edu	37	chr19	55644293	55644293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcatcctcacttccagCggcctccaacgcggcccttc	10	19	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:55644293C>T	uc002qjb.3	-	14	916	c.827G>A	c.(826-828)CGC>CAC	p.R276H	TNNT1_uc002qiz.3_Missense_Mutation_p.R190H|TNNT1_uc002qja.3_Missense_Mutation_p.R190H|TNNT1_uc002qjc.3_Missense_Mutation_p.R260H|TNNT1_uc002qje.3_Missense_Mutation_p.R249H|TNNT1_uc002qjd.3_Missense_Mutation_p.R249H	NM_003283	NP_003274	P13805	TNNT1_HUMAN	troponin T1, skeletal, slow isoform a	276					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		TCACTTCCAGCGGCCTCCAAC	0.612													T	55644293	C	T	55644293	3	4	27	1	0	0	0	0	1	0	0	0	16327	768	27	1	13	1	TNNT1	19	55644293	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	46958	55644293	3484690	7921	31872											
ZNF579	163033	broad.mit.edu	37	chr19	56089958	56089958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccgccccctcgcccccctCcggccccttggctgagttcc	8	24	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:56089958C>T	uc002qlh.2	-	2	1101	c.1048G>A	c.(1048-1050)GAG>AAG	p.E350K		NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	350	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		TCGCCCCCCTCCGGCCCCTTG	0.622													T	56089958	C	T	56089958	3	4	27	1	0	0	0	0	1	0	0	0	18008	864	30	4	644	4	ZNF579	19	56089958	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	445665	56089958	3039025	7922	31873											
EPN1	29924	broad.mit.edu	37	chr19	56203213	56203213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacccatggctgctgccGtccccacggctgcccccacc	9	22	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:56203213G>A	uc002qlw.2	+	7	1198	c.856G>A	c.(856-858)GTC>ATC	p.V286I	EPN1_uc002qlv.2_Missense_Mutation_p.V261I|EPN1_uc010etd.2_Missense_Mutation_p.V286I|EPN1_uc002qlx.2_Missense_Mutation_p.V372I	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	epsin 1 isoform b	286	Ala/Gly/Pro-rich.|8 X 3 AA repeats of [ED]-P-W.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding				0		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GGCTGCTGCCGTCCCCACGGC	0.736													A	56203213	G	A	56203213	3	1	27	1	0	0	0	0	1	0	0	0	5185	1145	40	1	1219	1	EPN1	19	56203213	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	113255	56203213	2925770	7923	31874											
NLRP9	338321	broad.mit.edu	37	chr19	56220340	56220340	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggtccatgtgaaatggtcaGatggggaattttttcttcca	11	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:56220340G>A	uc002qly.2	-	9	2942	c.2914C>T	c.(2914-2916)CTG>TTG	p.L972L		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	972						cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GAAATGGTCAGATGGGGAATT	0.423													A	56220340	G	A	56220340	2	1	27	1	0	0	0	0	0	0	0	1	10484	933	33	4		4	NLRP9	19	56220340	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	17127	56220340	2908643	7924	31875											
NLRP9	338321	broad.mit.edu	37	chr19	56243849	56243849	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaacatggcggcacaaaactCttggatacacagatgcatga	9	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:56243849C>A	uc002qly.2	-	2	1376	c.1348G>T	c.(1348-1350)GAG>TAG	p.E450*		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	450	NACHT.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GCACAAAACTCTTGGATACAC	0.493													A	56243849	C	A	56243849	4	1	27	1	0	0	0	0	0	1	0	0	10484	922	32	5	1659	5	NLRP9	19	56243849	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	23509	56243849	2885134	7925	31876											
NLRP11	204801	broad.mit.edu	37	chr19	56303730	56303730	+	Frame_Shift_Del	DEL	T	T	-													tcacatgcaacactccgtaaTtttttaagcgattcacacac					rs71911386		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:56303729_56303729AT>A	uc010ygf.2	-	8	3162	c.2451_2451AT>T	c.(2449-2451)aatfs	p.N817fs	NLRP11_uc002qlz.3_Frame_Shift_Del_p.N664fs|NLRP11_uc002qmb.3_Frame_Shift_Del_p.N718fs|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	817							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACACTCCGTAATTTTTTAAGC	0.468													-	56303730	T	-	56303730	7	5	27	1	0	1	0	1	0	0	0	0	10473	1493	52	0	667	0	NLRP11	19	56303730	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	59881	56303730	2825253	7926	31877											
NLRP4	147945	broad.mit.edu	37	chr19	56369592	56369592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcctccctgctcatcgCtatcaaacccgtgtgcccga	10	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:56369592C>T	uc002qmd.3	+	3	1255	c.833C>T	c.(832-834)GCT>GTT	p.A278V	NLRP4_uc002qmf.2_Missense_Mutation_p.A203V|NLRP4_uc010etf.2_Missense_Mutation_p.A109V	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	278	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTGCTCATCGCTATCAAACCC	0.552													T	56369592	C	T	56369592	3	4	27	1	0	0	0	0	1	0	0	0	10479	797	28	2	839	2	NLRP4	19	56369592	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	65862	56369592	2759391	7927	31878											
NLRP4	147945	broad.mit.edu	37	chr19	56369735	56369735	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagagccatggaagccttcAatcttgtaagagaaagtgaa	10	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:56369735A>G	uc002qmd.3	+	3	1398	c.976A>G	c.(976-978)AAT>GAT	p.N326D	NLRP4_uc002qmf.2_Missense_Mutation_p.N251D|NLRP4_uc010etf.2_Missense_Mutation_p.N157D	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	326	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GGAAGCCTTCAATCTTGTAAG	0.458													G	56369735	A	G	56369735	3	3	27	1	0	0	0	0	1	0	0	0	10479	130	5	3	982	3	NLRP4	19	56369735	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	143	56369735	2759248	7928	31879											
NLRP4	147945	broad.mit.edu	37	chr19	56370579	56370579	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaactctgtttttccgttcAaaatgtctttaagaaagagg	8	6	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:56370579A>G	uc002qmd.3	+	3	2242	c.1820A>G	c.(1819-1821)CAA>CGA	p.Q607R	NLRP4_uc002qmf.2_Missense_Mutation_p.Q532R|NLRP4_uc010etf.2_Missense_Mutation_p.Q438R	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	607							ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTTTCCGTTCAAAATGTCTTT	0.403													G	56370579	A	G	56370579	3	3	27	1	0	0	0	0	1	0	0	0	10479	130	5	3	1826	3	NLRP4	19	56370579	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	844	56370579	2758404	7929	31880											
NLRP13	126204	broad.mit.edu	37	chr19	56423337	56423337	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctccccactttaataAttcctccattaccctgggag	4	15	2	0	rs143168899		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:56423337A>C	uc010ygg.1	-	5	1871	c.1846T>G	c.(1846-1848)TTA>GTA	p.L616V		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	616							ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CACTTTAATAATTCCTCCATT	0.403													C	56423337	A	C	56423337	3	2	27	1	0	0	0	0	1	0	0	0	10475	98	4	5	1311	5	NLRP13	19	56423337	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	52758	56423337	2705646	7930	31881											
NLRP13	126204	broad.mit.edu	37	chr19	56424639	56424639	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagttcagccttcatgttctCtctgtattttcttctgtggt	7	9	6	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:56424639C>T	uc010ygg.1	-	5	569	c.544G>A	c.(544-546)GAG>AAG	p.E182K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	182							ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTCATGTTCTCTCTGTATTTT	0.423													T	56424639	C	T	56424639	3	4	27	1	0	0	0	0	1	0	0	0	10475	922	32	4	2613	4	NLRP13	19	56424639	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1302	56424639	2704344	7931	31882											
NLRP13	126204	broad.mit.edu	37	chr19	56443673	56443673	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtgattacagaaaagTtcatcttgcccaacacatgc	9	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:56443673T>C	uc010ygg.1	-	1	30	c.5A>G	c.(4-6)AAC>AGC	p.N2S		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	2	DAPIN.						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TACAGAAAAGTTCATCTTGCC	0.478													C	56443673	T	C	56443673	3	2	27	1	0	0	0	0	1	0	0	0	10475	1725	60	3	3168	3	NLRP13	19	56443673	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	19034	56443673	2685310	7932	31883											
NLRP8	126205	broad.mit.edu	37	chr19	56467067	56467067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatagcgagtcccagaggaaGcaaaagctatctctctcaca	9	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:56467067G>A	uc002qmh.2	+	3	1714	c.1643G>A	c.(1642-1644)AGC>AAC	p.S548N	NLRP8_uc010etg.2_Missense_Mutation_p.S548N	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	548						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCCAGAGGAAGCAAAAGCTAT	0.473													A	56467067	G	A	56467067	3	1	27	1	0	0	0	0	1	0	0	0	10483	971	34	2	1653	2	NLRP8	19	56467067	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	23394	56467067	2661916	7933	31884											
NLRP5	126206	broad.mit.edu	37	chr19	56515301	56515301	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcagaatcgaccacatgCtctattccacagtttgaaat	5	11	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:56515301C>T	uc002qmj.2	+	2	282	c.282C>T	c.(280-282)TGC>TGT	p.C94C	NLRP5_uc002qmi.2_Silent_p.C94C	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	94	DAPIN.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGACCACATGCTCTATTCCAC	0.453													T	56515301	C	T	56515301	2	4	27	1	0	0	0	0	0	0	0	1	10480	805	28	2		2	NLRP5	19	56515301	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	48234	56515301	2613682	7934	31885											
NLRP5	126206	broad.mit.edu	37	chr19	56539246	56539246	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcagtgtttgacggtgaCgacctcatggttcaaggact	12	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:56539246C>T	uc002qmj.2	+	7	1647	c.1647C>T	c.(1645-1647)GAC>GAT	p.D549D	NLRP5_uc002qmi.2_Silent_p.D530D	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	549	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTGACGGTGACGACCTCATGG	0.537													T	56539246	C	T	56539246	2	4	27	1	0	0	0	0	0	0	0	1	10480	535	19	1		1	NLRP5	19	56539246	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	23945	56539246	2589737	7935	31886											
NLRP5	126206	broad.mit.edu	37	chr19	56565026	56565026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtaaagtgtcatctcaccGccgcgtgctgtgagagtctg	13	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:56565026G>A	uc002qmj.2	+	13	3151	c.3151G>A	c.(3151-3153)GCC>ACC	p.A1051T	NLRP5_uc002qmi.2_Missense_Mutation_p.A1032T	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	1051	LRR 11.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCATCTCACCGCCGCGTGCTG	0.567													A	56565026	G	A	56565026	3	1	27	1	0	0	0	0	1	0	0	0	10480	1087	38	1	3201	1	NLRP5	19	56565026	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	25780	56565026	2563957	7936	31887											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56701494	56701494	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctggtgaactcggaggTctgagggctgcaagaagcgc	16	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:56701494T>G	uc010ygh.1	-	4	1190	c.1190A>C	c.(1189-1191)GAC>GCC	p.D397A		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	397	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						AACTCGGAGGTCTGAGGGCTG	0.547													G	56701494	T	G	56701494	3	3	27	1	0	0	0	0	1	0	0	0	18236	1667	58	5	301	5	ZSCAN5B	19	56701494	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	136468	56701494	2427489	7937	31888											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56702324	56702324	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtttgggtcacctgttacGtcaatactcttgtgtagcag	11	8	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:56702324G>A	uc010ygh.1	-	3	621	c.621C>T	c.(619-621)GAC>GAT	p.D207D		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	207					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						CACCTGTTACGTCAATACTCT	0.507													A	56702324	G	A	56702324	2	1	27	1	0	0	0	0	0	0	0	1	18236	1136	40	1		1	ZSCAN5B	19	56702324	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	830	56702324	2426659	7938	31889											
ZNF667	63934	broad.mit.edu	37	chr19	56952773	56952773	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actaaaggccttaccacatgTtttgcatgtatatggcttct	7	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:56952773T>C	uc002qnd.2	-	5	1753	c.1591A>G	c.(1591-1593)ACA>GCA	p.T531A	ZNF667_uc010etl.2_Missense_Mutation_p.T313A|ZNF667_uc002qne.2_Missense_Mutation_p.T531A|ZNF667_uc010etm.2_Missense_Mutation_p.T474A	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	531	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTACCACATGTTTTGCATGTA	0.443													C	56952773	T	C	56952773	3	2	27	1	0	0	0	0	1	0	0	0	18071	1725	60	3	245	3	ZNF667	19	56952773	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	250449	56952773	2176210	7939	31890											
ZNF471	57573	broad.mit.edu	37	chr19	57036632	57036632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcataggagaattcatacagGagagaaaccttacaaatgtg	10	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:57036632G>A	uc002qnh.2	+	5	1329	c.1196G>A	c.(1195-1197)GGA>GAA	p.G399E		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ATTCATACAGGAGAGAAACCT	0.408													A	57036632	G	A	57036632	3	1	27	1	0	0	0	0	1	0	0	0	17927	1174	41	4	1210	4	ZNF471	19	57036632	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	83859	57036632	2092351	7940	31891											
ZNF470	388566	broad.mit.edu	37	chr19	57089759	57089759	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttatgagtgtaaggaatgTagcaaagccttcagccaggt	11	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:57089759T>C	uc002qnl.3	+	6	2638	c.1962T>C	c.(1960-1962)TGT>TGC	p.C654C	ZNF470_uc010etn.2_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	654	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GTAAGGAATGTAGCAAAGCCT	0.418													C	57089759	T	C	57089759	2	2	27	1	0	0	0	0	0	0	0	1	17926	1644	57	3		3	ZNF470	19	57089759	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	53127	57089759	2039224	7941	31892											
ZNF71	58491	broad.mit.edu	37	chr19	57133693	57133693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctcatccagcaccagcgCttccacatcggcgtgaagcc	8	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:57133693C>T	uc002qnm.3	+	3	1276	c.1038C>T	c.(1036-1038)CGC>CGT	p.R346R		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	346	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		AGCACCAGCGCTTCCACATCG	0.642													T	57133693	C	T	57133693	2	4	27	1	0	0	0	0	0	0	0	1	18111	784	28	2		2	ZNF71	19	57133693	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	43934	57133693	1995290	7942	31893											
ZNF835	90485	broad.mit.edu	37	chr19	57175250	57175250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggccgctcgcccgtgtgCgtgcgctggtgcagggcgag	19	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:57175250C>T	uc010ygo.1	-	2	1383	c.1383G>A	c.(1381-1383)ACG>ACA	p.T461T	ZNF835_uc010ygn.1_Silent_p.T439T	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						CGCCCGTGTGCGTGCGCTGGT	0.662													T	57175250	C	T	57175250	2	4	27	1	0	0	0	0	0	0	0	1	18183	755	27	1		1	ZNF835	19	57175250	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	41557	57175250	1953733	7943	31894											
PEG3	5178	broad.mit.edu	37	chr19	57327048	57327048	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgagctgggaacagagaatTcgccatccttcttaaactca	8	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:57327048T>G	uc002qnu.2	-	7	3113	c.2762A>C	c.(2761-2763)GAA>GCA	p.E921A	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E892A|PEG3_uc002qnv.2_Missense_Mutation_p.E921A|PEG3_uc002qnw.2_Missense_Mutation_p.E797A|PEG3_uc002qnx.2_Missense_Mutation_p.E795A|PEG3_uc010etr.2_Missense_Mutation_p.E921A	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	921					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AACAGAGAATTCGCCATCCTT	0.438													G	57327048	T	G	57327048	3	3	27	1	0	0	0	0	1	0	0	0	11720	1783	62	5	2008	5	PEG3	19	57327048	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	151798	57327048	1801935	7944	31895											
PEG3	5178	broad.mit.edu	37	chr19	57328459	57328459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactcatcacatacatatgGcattgccccaaaatcaattg	4	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:57328459G>A	uc002qnu.2	-	7	1702	c.1351C>T	c.(1351-1353)CCA>TCA	p.P451S	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.P422S|PEG3_uc002qnv.2_Missense_Mutation_p.P451S|PEG3_uc002qnw.2_Missense_Mutation_p.P327S|PEG3_uc002qnx.2_Missense_Mutation_p.P325S|PEG3_uc010etr.2_Missense_Mutation_p.P451S	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	451					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CATACATATGGCATTGCCCCA	0.483													A	57328459	G	A	57328459	3	1	27	1	0	0	0	0	1	0	0	0	11720	1203	42	2	3419	2	PEG3	19	57328459	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1411	57328459	1800524	7945	31896											
PEG3	5178	broad.mit.edu	37	chr19	57347438	57347438	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcttcctctcgccagtcGtctccaagaaggacggaaga	9	15	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:57347438G>A	uc010etr.2	-	2	180	c.-138C>T	c.(-140--136)GACGA>GATGA		ZIM2_uc010ygq.1_Translation_Start_Site|ZIM2_uc010ygr.1_Translation_Start_Site|ZIM2_uc002qnr.2_Translation_Start_Site|ZIM2_uc002qnq.2_Translation_Start_Site|ZIM2_uc010etp.2_Translation_Start_Site|ZIM2_uc010ygs.1_Translation_Start_Site|PEG3_uc002qnv.2_Translation_Start_Site|PEG3_uc002qnw.2_Translation_Start_Site|PEG3_uc002qnx.2_Translation_Start_Site	NM_001146184	NP_001139656	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1						apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTCGCCAGTCGTCTCCAAGAA	0.502													A	57347438	G	A	57347438	1	1	27	1	0	0	0	0	0	0	0	0	11720	1160	40	1		1	PEG3	19	57347438	Translation_Start_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	18979	57347438	1781545	7946	31897											
USP29	57663	broad.mit.edu	37	chr19	57641113	57641113	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgggaatgttaaaaaagTcatttcagcagttgcagaaa	9	5	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:57641113T>C	uc002qny.2	+	4	1426	c.1070T>C	c.(1069-1071)GTC>GCC	p.V357A		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	357					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTTAAAAAAGTCATTTCAGCA	0.378													C	57641113	T	C	57641113	3	2	27	1	0	0	0	0	1	0	0	0	17056	1667	58	3	1072	3	USP29	19	57641113	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	293675	57641113	1487870	7947	31898											
ZIM3	114026	broad.mit.edu	37	chr19	57647393	57647393	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtttccttattgattgatggGacttctcttgcgagactctc	9	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:57647393G>A	uc002qnz.1	-	5	698	c.312C>T	c.(310-312)GTC>GTT	p.V104V		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGATTGATGGGACTTCTCTTG	0.413													A	57647393	G	A	57647393	2	1	27	1	0	0	0	0	0	0	0	1	17682	1161	41	4		4	ZIM3	19	57647393	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	6280	57647393	1481590	7948	31899											
ZNF264	9422	broad.mit.edu	37	chr19	57724326	57724326	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaaccataccaaagagaaAccccacaagtgtcttcactg	5	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:57724326A>G	uc002qob.2	+	4	2274	c.1861A>G	c.(1861-1863)ACC>GCC	p.T621A		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CCAAAGAGAAACCCCACAAGT	0.388													G	57724326	A	G	57724326	3	3	27	1	0	0	0	0	1	0	0	0	17801	43	2	3	1875	3	ZNF264	19	57724326	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	76933	57724326	1404657	7949	31900											
ZNF543	125919	broad.mit.edu	37	chr19	57839292	57839292	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaatgagttctgaacgTgatggtttggggtcagatga	15	3	2	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:57839292T>C	uc002qoi.1	+	4	807	c.462T>C	c.(460-462)CGT>CGC	p.R154R		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTTCTGAACGTGATGGTTTGG	0.453													C	57839292	T	C	57839292	2	2	27	1	0	0	0	0	0	0	0	1	17973	1683	59	3		3	ZNF543	19	57839292	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	114966	57839292	1289691	7950	31901											
ZNF547	284306	broad.mit.edu	37	chr19	57883175	57883175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtttttgaagacgtggCcatatatttctcccaggagg	12	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:57883175C>T	uc002qol.2	+	3	243	c.50C>T	c.(49-51)GCC>GTC	p.A17V	ZNF547_uc010ygx.1_Missense_Mutation_p.A17V	NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	17	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAAGACGTGGCCATATATTTC	0.428													T	57883175	C	T	57883175	3	4	27	1	0	0	0	0	1	0	0	0	17976	739	26	2	56	2	ZNF547	19	57883175	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	43883	57883175	1245808	7951	31902											
VN1R1	57191	broad.mit.edu	37	chr19	57967256	57967256	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccataattgttttttgcaCtactgtttttgctattcagt	5	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:57967256C>A	uc002qos.1	-	1	599	c.599G>T	c.(598-600)AGT>ATT	p.S200I	ZNF547_uc002qpm.3_Intron	NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	200	Extracellular (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GTTTTTTGCACTACTGTTTTT	0.383													A	57967256	C	A	57967256	3	1	27	1	0	0	0	0	1	0	0	0	17175	565	20	5	466	5	VN1R1	19	57967256	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	84081	57967256	1161727	7952	31903											
ZNF773	374928	broad.mit.edu	37	chr19	58018164	58018164	+	Frame_Shift_Del	DEL	T	T	-													atttagccataagtccaaccTttttatacaccaaatagttc					rs147849622		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58018163_58018163CT>C	uc002qox.3	+	3	840	c.700_700CT>C	c.(700-702)cttfs	p.L234fs	ZNF773_uc002qoy.3_Frame_Shift_Del_p.L233fs|ZNF773_uc021vcl.1_Intron	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	Homo sapiens zinc finger protein 773 (ZNF773), mRNA.	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N233S(1)|p.N233I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		TAAGTCCAACCTTTTTATACA	0.423													-	58018164	T	-	58018164	7	5	27	1	0	1	0	1	0	0	0	0	18143	1609	56	0	715	0	ZNF773	19	58018164	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	50908	58018164	1110819	7953	31904											
ZNF549	256051	broad.mit.edu	37	chr19	58049755	58049755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccgctcgtctgactacatGcgacaccagagaattcacac	7	14	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58049755G>A	uc002qpb.1	+	4	1632	c.1383G>A	c.(1381-1383)ATG>ATA	p.M461I	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.M448I	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	461	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTGACTACATGCGACACCAGA	0.418													A	58049755	G	A	58049755	3	1	27	1	0	0	0	0	1	0	0	0	17978	1319	46	2	1354	2	ZNF549	19	58049755	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	31591	58049755	1079228	7954	31905											
ZNF551	90233	broad.mit.edu	37	chr19	58196633	58196633	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattcctgctgtgacagggtAtgacctttgaggatgtggcc	13	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58196633A>G	uc002qpw.3	+	2	260	c.37A>G	c.(37-39)ATG>GTG	p.M13V	ZNF551_uc002qpv.3_Intron|ZNF776_uc002qpx.2_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	zinc finger protein 551	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGACAGGGTATGACCTTTGA	0.507													G	58196633	A	G	58196633	3	3	27	1	0	0	0	0	1	0	0	0	17980	449	16	3	43	3	ZNF551	19	58196633	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	146878	58196633	932350	7955	31906											
ZNF776	284309	broad.mit.edu	37	chr19	58264668	58264668	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttcttttaggttgttggtAtggagcaaaagacgagacac	11	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58264668A>C	uc002qpx.2	+	3	393	c.170A>C	c.(169-171)TAT>TCT	p.Y57S	ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.Y57S	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN	zinc finger protein 776	57	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		GGTTGTTGGTATGGAGCAAAA	0.433													C	58264668	A	C	58264668	3	2	27	1	0	0	0	0	1	0	0	0	18146	449	16	5	180	5	ZNF776	19	58264668	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	68035	58264668	864315	7956	31907											
ZNF586	54807	broad.mit.edu	37	chr19	58290443	58290443	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaatcatttcaccaaagctCttcactcttgcagcgtcaga	5	12	6	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58290443C>A	uc002qqd.2	+	3	674	c.488C>A	c.(487-489)TCT>TAT	p.S163Y	ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_Missense_Mutation_p.L121I|ZNF586_uc010euh.2_Missense_Mutation_p.S120Y|ZNF586_uc002qqf.1_Intron	NM_017652	NP_060122	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	163	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACCAAAGCTCTTCACTCTTG	0.418													A	58290443	C	A	58290443	3	1	27	1	0	0	0	0	1	0	0	0	18016	913	32	5	498	5	ZNF586	19	58290443	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	25775	58290443	838540	7957	31908											
ZNF586	54807	broad.mit.edu	37	chr19	58291120	58291120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgccacagttcttcgttcCgtcgccatcagagagttcat	8	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58291120C>T	uc002qqd.2	+	3	1351	c.1165C>T	c.(1165-1167)CGT>TGT	p.R389C	ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_3'UTR|ZNF586_uc010euh.2_Missense_Mutation_p.R346C|ZNF586_uc002qqf.1_Intron	NM_017652	NP_060122	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	389	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCTTCGTTCCGTCGCCATCA	0.428													T	58291120	C	T	58291120	3	4	27	1	0	0	0	0	1	0	0	0	18016	652	23	1	1175	1	ZNF586	19	58291120	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	677	58291120	837863	7958	31909											
ZNF552	79818	broad.mit.edu	37	chr19	58319610	58319610	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtgaactctcttatgaAcacggaatgtagagctgtgg	12	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58319610A>T	uc002qqg.2	-	3	1192	c.1022T>A	c.(1021-1023)GTT>GAT	p.V341D	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Missense_Mutation_p.V337D	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	zinc finger protein 552	341	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TCTCTTATGAACACGGAATGT	0.458													T	58319610	A	T	58319610	3	4	27	1	0	0	0	0	1	0	0	0	17981	43	2	5	205	5	ZNF552	19	58319610	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	28490	58319610	809373	7959	31910											
ZNF417	147687	broad.mit.edu	37	chr19	58420088	58420088	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacattcactgcacttatAaggcttttgtccagaatgaa	6	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58420088A>G	uc002qqq.2	-	3	1757	c.1558T>C	c.(1558-1560)TAT>CAT	p.Y520H	ZNF417_uc010yhm.1_Missense_Mutation_p.Y477H|ZNF417_uc002qqr.2_Missense_Mutation_p.Y519H	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	520	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CTGCACTTATAAGGCTTTTGT	0.403													G	58420088	A	G	58420088	3	3	27	1	0	0	0	0	1	0	0	0	17891	362	13	3	173	3	ZNF417	19	58420088	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	100478	58420088	708895	7960	31911											
ZNF418	147686	broad.mit.edu	37	chr19	58437734	58437734	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctctgatgtttaaaatgCgcagaccttcgagtaaatgt	9	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58437734C>T	uc002qqs.1	-	4	2107	c.1815G>A	c.(1813-1815)GCG>GCA	p.A605A	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Silent_p.A520A	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	605	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GTTTAAAATGCGCAGACCTTC	0.443													T	58437734	C	T	58437734	2	4	27	1	0	0	0	0	0	0	0	1	17892	755	27	1		1	ZNF418	19	58437734	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	17646	58437734	691249	7961	31912											
ZNF418	147686	broad.mit.edu	37	chr19	58438155	58438155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcaatgaggtgggacttgCccctaaataatttcctacac	8	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58438155C>T	uc002qqs.1	-	4	1686	c.1394G>A	c.(1393-1395)GGC>GAC	p.G465D	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.G380D	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	465	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GTGGGACTTGCCCCTAAATAA	0.448													T	58438155	C	T	58438155	3	4	27	1	0	0	0	0	1	0	0	0	17892	739	26	2	640	2	ZNF418	19	58438155	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	421	58438155	690828	7962	31913											
ZNF418	147686	broad.mit.edu	37	chr19	58439319	58439319	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagagtgggccttcttgggaGacacacctgccccaggagtg	14	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58439319G>A	uc002qqs.1	-	4	522	c.230C>T	c.(229-231)TCT>TTT	p.S77F	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_5'UTR	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	77	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CTTCTTGGGAGACACACCTGC	0.502													A	58439319	G	A	58439319	3	1	27	1	0	0	0	0	1	0	0	0	17892	942	33	4	1804	4	ZNF418	19	58439319	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1164	58439319	689664	7963	31914											
ZNF256	10172	broad.mit.edu	37	chr19	58453338	58453338	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgcgtaataaggctagAgctttgcctataggatttcc	11	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58453338A>T	uc002qqu.2	-	3	1073	c.838T>A	c.(838-840)TCT>ACT	p.S280T	ZNF256_uc010euj.2_Missense_Mutation_p.S127T	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	280	C2H2-type 3.				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		ATAAGGCTAGAGCTTTGCCTA	0.388													T	58453338	A	T	58453338	3	4	27	1	0	0	0	0	1	0	0	0	17796	304	11	5	1049	5	ZNF256	19	58453338	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	14019	58453338	675645	7964	31915											
ZNF606	80095	broad.mit.edu	37	chr19	58490577	58490577	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagttccagttgaaagattTcccacactcattacaaacat	5	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58490577T>C	uc002qqw.2	-	7	2089	c.1471A>G	c.(1471-1473)AAA>GAA	p.K491E	ZNF606_uc010yhp.1_Missense_Mutation_p.K401E	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	491	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTGAAAGATTTCCCACACTCA	0.368													C	58490577	T	C	58490577	3	2	27	1	0	0	0	0	1	0	0	0	18029	1792	62	3	911	3	ZNF606	19	58490577	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	37239	58490577	638406	7965	31916											
ZNF135	7694	broad.mit.edu	37	chr19	58578557	58578557	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttatcgaacaccaccggacGcacacaggagagagacctta	9	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58578557G>A	uc010yhq.1	+	5	837	c.741G>A	c.(739-741)ACG>ACA	p.T247T	ZNF135_uc002qre.2_Silent_p.T235T|ZNF135_uc002qrd.1_Silent_p.T193T|ZNF135_uc002qrf.2_Silent_p.T193T|ZNF135_uc002qrg.2_Silent_p.T205T|ZNF135_uc010yhr.1_Silent_p.T56T	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	247					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ACCACCGGACGCACACAGGAG	0.468													A	58578557	G	A	58578557	2	1	27	1	0	0	0	0	0	0	0	1	17722	1074	38	1		1	ZNF135	19	58578557	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	87980	58578557	550426	7966	31917											
ZNF135	7694	broad.mit.edu	37	chr19	58579384	58579384	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacagctcgtccctcaccaAacatcagcgaatccacactg	5	17	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58579384A>G	uc010yhq.1	+	5	1664	c.1568A>G	c.(1567-1569)AAA>AGA	p.K523R	ZNF135_uc002qre.2_Missense_Mutation_p.K511R|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.K469R|ZNF135_uc002qrg.2_Missense_Mutation_p.K481R|ZNF135_uc010yhr.1_Missense_Mutation_p.K332R	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	523					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		TCCCTCACCAAACATCAGCGA	0.557													G	58579384	A	G	58579384	3	3	27	1	0	0	0	0	1	0	0	0	17722	14	1	3	1735	3	ZNF135	19	58579384	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	827	58579384	549599	7967	31918											
ZSCAN18	65982	broad.mit.edu	37	chr19	58601478	58601478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctggtagacaaattcccGgaaacgcaggcgggagaact	12	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58601478G>A	uc002qri.2	-	2	466	c.157C>T	c.(157-159)CGG>TGG	p.R53W	ZSCAN18_uc002qrj.3_Missense_Mutation_p.R53W|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.R53W|ZSCAN18_uc010yht.1_Missense_Mutation_p.R109W|ZSCAN18_uc002qrk.1_Missense_Mutation_p.R53W|ZSCAN18_uc002qrl.2_Missense_Mutation_p.R53W	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	53	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ACAAATTCCCGGAAACGCAGG	0.672													A	58601478	G	A	58601478	3	1	27	1	0	0	0	0	1	0	0	0	18227	1115	39	1	1399	1	ZSCAN18	19	58601478	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	22094	58601478	527505	7968	31919											
ZNF329	79673	broad.mit.edu	37	chr19	58640601	58640601	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgagtcaggtgcatggaaAccatttgttgccagaactct	10	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58640601A>C	uc002qrn.2	-	4	507	c.270T>G	c.(268-270)GGT>GGG	p.G90G	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GTGCATGGAAACCATTTGTTG	0.468													C	58640601	A	C	58640601	2	2	27	1	0	0	0	0	0	0	0	1	17844	30	2	5		5	ZNF329	19	58640601	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	39123	58640601	488382	7969	31920											
ZNF544	27300	broad.mit.edu	37	chr19	58773443	58773443	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaacgcacactggagaaaaaCccttcaaatgtactcagtgt	8	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58773443C>A	uc010euo.2	+	7	1945	c.1471C>A	c.(1471-1473)CCC>ACC	p.P491T	ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.P463T|ZNF544_uc010yhy.1_Missense_Mutation_p.P463T|ZNF544_uc002qrt.3_Missense_Mutation_p.P349T|ZNF544_uc002qru.3_Missense_Mutation_p.P349T|uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	zinc finger protein 544	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TGGAGAAAAACCCTTCAAATG	0.443													A	58773443	C	A	58773443	3	1	27	1	0	0	0	0	1	0	0	0	17974	507	18	5	1485	5	ZNF544	19	58773443	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	132842	58773443	355540	7970	31921											
ZNF8	7554	broad.mit.edu	37	chr19	58805954	58805954	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaaaccctacaaatgtacTgactgtgggaagtcgtttaa	9	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58805954T>C	uc002qry.1	+	4	910	c.780T>C	c.(778-780)ACT>ACC	p.T260T	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	260	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		ACAAATGTACTGACTGTGGGA	0.483													C	58805954	T	C	58805954	2	2	27	1	0	0	0	0	0	0	0	1	18164	1567	55	3		3	ZNF8	19	58805954	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	32511	58805954	323029	7971	31922											
ZNF8	7554	broad.mit.edu	37	chr19	58806852	58806852	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgcacgttattggggtggaaGagccttctgtgggtgcttcc	15	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58806852G>T	uc002qry.1	+	4	1808	c.1678G>T	c.(1678-1680)GAG>TAG	p.E560*	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		TGGGGTGGAAGAGCCTTCTGT	0.453													T	58806852	G	T	58806852	4	4	27	1	0	0	0	0	0	1	0	0	18164	943	33	5	1692	5	ZNF8	19	58806852	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	898	58806852	322131	7972	31923											
RPS5	6193	broad.mit.edu	37	chr19	58906110	58906110	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgtgtggccaagtccaAccgctgattttcccagctgc	12	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58906110A>G	uc002qsn.2	+	6	680	c.608A>G	c.(607-609)AAC>AGC	p.N203S	RPS5_uc002qso.2_Missense_Mutation_p.N203S	NM_001009	NP_001000	P46782	RS5_HUMAN	ribosomal protein S5	203					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome				0		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		GCCAAGTCCAACCGCTGATTT	0.572													G	58906110	A	G	58906110	3	3	27	1	0	0	0	0	1	0	0	0	13648	43	2	3	626	3	RPS5	19	58906110	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	99258	58906110	222873	7973	31924											
ZNF584	201514	broad.mit.edu	37	chr19	58921357	58921357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgatgtttgaggatgtgaCggtatatttctccagggagg	16	4	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58921357C>T	uc002qsp.2	+	2	520	c.68C>T	c.(67-69)ACG>ATG	p.T23M	ZNF584_uc010yia.1_Intron|ZNF584_uc002qsr.2_Intron|ZNF584_uc010yib.1_Missense_Mutation_p.T15M	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		GAGGATGTGACGGTATATTTC	0.498													T	58921357	C	T	58921357	3	4	27	1	0	0	0	0	1	0	0	0	18013	536	19	1	74	1	ZNF584	19	58921357	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	15247	58921357	207626	7974	31925											
ZNF584	201514	broad.mit.edu	37	chr19	58928251	58928251	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacagagtcatccagcaccaGgacactcatagtgaggggaa	11	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58928251G>T	uc002qsp.2	+	4	818	c.366G>T	c.(364-366)CAG>CAT	p.Q122H	ZNF584_uc010yia.1_RNA|ZNF584_uc002qsr.2_Missense_Mutation_p.Q77H|ZNF584_uc010yib.1_3'UTR	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		TCCAGCACCAGGACACTCATA	0.502													T	58928251	G	T	58928251	3	4	27	1	0	0	0	0	1	0	0	0	18013	991	35	5	380	5	ZNF584	19	58928251	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	6894	58928251	200732	7975	31926											
ZNF132	7691	broad.mit.edu	37	chr19	58946066	58946066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagatggttggggagagtggAgctcttcaggaaggcttttc	16	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58946066A>G	uc002qst.3	-	3	1146	c.745T>C	c.(745-747)TCC>CCC	p.S249P		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	249	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GGGAGAGTGGAGCTCTTCAGG	0.458													G	58946066	A	G	58946066	3	3	27	1	0	0	0	0	1	0	0	0	17719	304	11	3	1379	3	ZNF132	19	58946066	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	17815	58946066	182917	7976	31927											
ZNF324	25799	broad.mit.edu	37	chr19	58982486	58982486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggagaacctttgggagCgcccaggacctggaggctgc	16	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58982486C>T	uc002qsw.1	+	4	721	c.627C>T	c.(625-627)AGC>AGT	p.S209S	ZNF324_uc002qsx.1_5'UTR	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCTTTGGGAGCGCCCAGGACC	0.637													T	58982486	C	T	58982486	2	4	27	1	0	0	0	0	0	0	0	1	17841	767	27	1		1	ZNF324	19	58982486	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	36420	58982486	146497	7977	31928											
ZNF446	55663	broad.mit.edu	37	chr19	58988647	58988647	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagagaccacccttgaggAgcctgagactgcccgcctcc	10	18	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58988647A>G	uc002qsz.2	+	2	179	c.62A>G	c.(61-63)GAG>GGG	p.E21G	ZNF446_uc002qta.2_Missense_Mutation_p.E21G|ZNF446_uc010eur.2_Missense_Mutation_p.E21G	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	21					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ACCCTTGAGGAGCCTGAGACT	0.647													G	58988647	A	G	58988647	3	3	27	1	0	0	0	0	1	0	0	0	17916	304	11	3	64	3	ZNF446	19	58988647	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	6161	58988647	140336	7978	31929											
ZNF446	55663	broad.mit.edu	37	chr19	58988885	58988885	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgaggaggccgctgccctAgtcgaaggactgcagcatga	14	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:58988885A>G	uc002qsz.2	+	2	417	c.300A>G	c.(298-300)CTA>CTG	p.L100L	ZNF446_uc002qta.2_Silent_p.L100L|ZNF446_uc010eur.2_Silent_p.L100L	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	100	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCGCTGCCCTAGTCGAAGGAC	0.632													G	58988885	A	G	58988885	2	3	27	1	0	0	0	0	0	0	0	1	17916	407	15	3		3	ZNF446	19	58988885	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	238	58988885	140098	7979	31930											
TRIM28	10155	broad.mit.edu	37	chr19	59061206	59061206	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcactggcgtggtggccaaGctctcaccagccaaccagcg	12	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr19:59061206G>T	uc002qtg.1	+	14	2374	c.2085G>T	c.(2083-2085)AAG>AAT	p.K695N	TRIM28_uc010eut.1_Missense_Mutation_p.K613N|TRIM28_uc002qth.1_Missense_Mutation_p.K310N	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	695					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TGGTGGCCAAGCTCTCACCAG	0.602													T	59061206	G	T	59061206	3	4	27	1	0	0	0	0	1	0	0	0	16499	962	34	5	2139	5	TRIM28	19	59061206	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	72321	59061206	67777	7980	31931											
ZCCHC3	85364	broad.mit.edu	37	chr20	279301	279301	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacaggtgcttcaggtgcggGgaggaggggcacctgagccc	19	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:279301G>T	uc002wdf.2	+	2	1095	c.1071G>T	c.(1069-1071)GGG>GGT	p.G357G	ZCCHC3_uc002wdg.2_RNA	NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	358	CCHC-type 2.						nucleic acid binding|zinc ion binding				0		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TCAGGTGCGGGGAGGAGGGGC	0.612													T	279301	G	T	279301	2	4	27	1	0	0	0	0	0	0	0	1	17586	1219	43	5		5	ZCCHC3	20	279301	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08		279301	62746219	7981	31932											
TRIB3	57761	broad.mit.edu	37	chr20	372148	372148	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgccagatggccaccgcccTggcgcactgtcaccagcacg	11	19	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:372148T>C	uc002wdm.2	+	3	1015	c.509T>C	c.(508-510)CTG>CCG	p.L170P	TRIB3_uc002wdn.2_Missense_Mutation_p.L197P	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	tribbles 3	170	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			central_nervous_system(2)	2		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GCCACCGCCCTGGCGCACTGT	0.632													C	372148	T	C	372148	3	2	27	1	0	0	0	0	1	0	0	0	16481	1580	55	3	515	3	TRIB3	20	372148	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	92847	372148	62653372	7982	31933											
C20orf46	55321	broad.mit.edu	37	chr20	1161600	1161600	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgcgcaggttaatggaGccgtaggtcttcctggagcc	13	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:1161600G>A	uc010gaa.1	-	3	882	c.663C>T	c.(661-663)GGC>GGT	p.G221G	C20orf46_uc002weq.1_Silent_p.G221G	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN	hypothetical protein LOC55321	221						integral to membrane	protein binding			ovary(1)	1						GGTTAATGGAGCCGTAGGTCT	0.612													A	1161600	G	A	1161600	2	1	27	1	0	0	0	0	0	0	0	1	2113	958	34	2		2	C20orf46	20	1161600	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	789452	1161600	61863920	7983	31934											
SNPH	9751	broad.mit.edu	37	chr20	1281356	1281356	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaccggctccaggaccgGtgagcgggtggccacgagca	17	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:1281356G>A	uc002wes.2	+	5	544	c.308_splice	c.e5+1	p.R103_splice	SNPH_uc002wet.2_Splice_Site_p.R147_splice	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin						synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						TCCAGGACCGGTGAGCGGGTG	0.682													A	1281356	G	A	1281356	5	1	27	1	0	0	0	0	0	0	1	0	14850	1275	44	4	319	4	SNPH	20	1281356	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	119756	1281356	61744164	7984	31935											
SIRPA	140885	broad.mit.edu	37	chr20	1902223	1902223	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccgtaggagagagcgtgtccTacagcatccacagcacagcc	11	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:1902223T>A	uc002wfq.2	+	4	979	c.619T>A	c.(619-621)TAC>AAC	p.Y207N	SIRPA_uc010zps.1_Missense_Mutation_p.Y187N|SIRPA_uc002wfr.2_Missense_Mutation_p.Y207N|SIRPA_uc002wfs.2_Missense_Mutation_p.Y207N|SIRPA_uc002wft.2_Missense_Mutation_p.Y207N	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN	signal-regulatory protein alpha precursor	207	Ig-like C1-type 1.|Extracellular (Potential).				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			ovary(1)	1				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GAGCGTGTCCTACAGCATCCA	0.577													A	1902223	T	A	1902223	3	1	27	1	0	0	0	0	1	0	0	0	14332	1522	53	5	629	5	SIRPA	20	1902223	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	620867	1902223	61123297	7985	31936											
SIRPA	140885	broad.mit.edu	37	chr20	1918072	1918072	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggagtatgccagcattcagaCcagcccgcagcccgcgtcgg	13	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:1918072C>G	uc002wfq.2	+	9	1733	c.1373C>G	c.(1372-1374)ACC>AGC	p.T458S	SIRPA_uc010zps.1_Missense_Mutation_p.T438S|SIRPA_uc002wfr.2_Missense_Mutation_p.T458S|SIRPA_uc002wfs.2_Missense_Mutation_p.T458S|SIRPA_uc002wft.2_Missense_Mutation_p.T462S	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN	signal-regulatory protein alpha precursor	458	Cytoplasmic (Potential).				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			ovary(1)	1				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		AGCATTCAGACCAGCCCGCAG	0.627													G	1918072	C	G	1918072	3	3	27	1	0	0	0	0	1	0	0	0	14332	507	18	5	1403	5	SIRPA	20	1918072	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	15849	1918072	61107448	7986	31937											
SIRPA	140885	broad.mit.edu	37	chr20	1918165	1918165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcagccggcccccaagcCtgagccgtccttctcagagt	10	17	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:1918165C>T	uc002wfq.2	+	9	1826	c.1466C>T	c.(1465-1467)CCT>CTT	p.P489L	SIRPA_uc010zps.1_Missense_Mutation_p.P469L|SIRPA_uc002wfr.2_Missense_Mutation_p.P489L|SIRPA_uc002wfs.2_Missense_Mutation_p.P489L|SIRPA_uc002wft.2_Missense_Mutation_p.P493L	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN	signal-regulatory protein alpha precursor	489	Cytoplasmic (Potential).				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			ovary(1)	1				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GCCCCCAAGCCTGAGCCGTCC	0.627													T	1918165	C	T	1918165	3	4	27	1	0	0	0	0	1	0	0	0	14332	681	24	4	1496	4	SIRPA	20	1918165	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	93	1918165	61107355	7987	31938											
STK35	140901	broad.mit.edu	37	chr20	2097903	2097903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacatcccccaaaaacgcaGgacttccatgtctgagggga	10	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:2097903G>A	uc010gak.2	+	3	1484	c.1484G>A	c.(1483-1485)AGG>AAG	p.R495K	STK35_uc010zpu.1_Intron|STK35_uc002wfw.3_Missense_Mutation_p.R362K	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	495	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						CAAAAACGCAGGACTTCCATG	0.512													A	2097903	G	A	2097903	3	1	27	1	0	0	0	0	1	0	0	0	15300	1000	35	4	1494	4	STK35	20	2097903	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	179738	2097903	60927617	7988	31939											
TGM3	7053	broad.mit.edu	37	chr20	2291695	2291695	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtaaccacgctgagagagaaGagtatgttcaggaagatgcc	13	7	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:2291695G>A	uc002wfx.3	+	4	557	c.460G>A	c.(460-462)GAG>AAG	p.E154K		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	154					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	TGAGAGAGAAGAGTATGTTCA	0.468													A	2291695	G	A	2291695	3	1	27	1	0	0	0	0	1	0	0	0	15828	943	33	4	474	4	TGM3	20	2291695	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	193792	2291695	60733825	7989	31940											
TGM6	343641	broad.mit.edu	37	chr20	2411625	2411625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagagagtgaaggactgtgCgctgatggtggagggcagcg	20	5	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:2411625C>T	uc002wfy.1	+	12	1980	c.1919C>T	c.(1918-1920)GCG>GTG	p.A640V	TGM6_uc010gal.1_Intron	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	640					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	AAGGACTGTGCGCTGATGGTG	0.592													T	2411625	C	T	2411625	3	4	27	1	0	0	0	0	1	0	0	0	15831	768	27	1	1965	1	TGM6	20	2411625	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	119930	2411625	60613895	7990	31941											
CPXM1	56265	broad.mit.edu	37	chr20	2774916	2774916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagctgccagcagctcgcGcagcctctgtttgggagtct	12	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:2774916G>A	uc002wgu.2	-	14	2189	c.2125C>T	c.(2125-2127)CGC>TGC	p.R709C	CPXM1_uc010gas.2_Missense_Mutation_p.R635C	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	carboxypeptidase X, member 1 precursor	709					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)|skin(2)	4						AGCAGCTCGCGCAGCCTCTGT	0.617													A	2774916	G	A	2774916	3	1	27	1	0	0	0	0	1	0	0	0	3837	1087	38	1	83	1	CPXM1	20	2774916	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	363291	2774916	60250604	7991	31942											
FAM113A	64773	broad.mit.edu	37	chr20	2819100	2819100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttcaaccacatcccgccGcagggagcctgccaggggct	11	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:2819100G>A	uc002wgz.1	-	6	1116	c.619C>T	c.(619-621)CGG>TGG	p.R207W	FAM113A_uc002whb.1_Missense_Mutation_p.R58W|FAM113A_uc002wha.1_Missense_Mutation_p.R58W|FAM113A_uc010zqa.1_Missense_Mutation_p.R54W|FAM113A_uc002whc.1_Missense_Mutation_p.R156W|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	hypothetical protein LOC64773	207							hydrolase activity|protein binding			ovary(2)	2						ACATCCCGCCGCAGGGAGCCT	0.572													A	2819100	G	A	2819100	3	1	27	1	0	0	0	0	1	0	0	0	5401	1086	38	1	757	1	FAM113A	20	2819100	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	44184	2819100	60206420	7992	31943											
FASTKD5	60493	broad.mit.edu	37	chr20	3127942	3127942	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggttaacatcaagctggAcctctaagtcagaagatcgg	10	9	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:3127942A>G	uc002whz.2	-	2	2086	c.1775T>C	c.(1774-1776)GTC>GCC	p.V592A	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	592					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0						ATCAAGCTGGACCTCTAAGTC	0.468													G	3127942	A	G	3127942	3	3	27	1	0	0	0	0	1	0	0	0	5688	275	10	3	523	3	FASTKD5	20	3127942	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	308842	3127942	59897578	7993	31944											
C20orf194	25943	broad.mit.edu	37	chr20	3262381	3262381	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtctgggtgggtctgcaGggcctggacaacatcaataa	14	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:3262381G>A	uc002wii.2	-	28	2569	c.2518C>T	c.(2518-2520)CTG>TTG	p.L840L	C20orf194_uc002wij.3_Silent_p.L579L|C20orf194_uc002wik.2_Silent_p.L514L	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	840											0						TGGGTCTGCAGGGCCTGGACA	0.502													A	3262381	G	A	3262381	2	1	27	1	0	0	0	0	0	0	0	1	2099	991	35	4		4	C20orf194	20	3262381	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	134439	3262381	59763139	7994	31945											
SIGLEC1	6614	broad.mit.edu	37	chr20	3672089	3672089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgagccacgtgggtgaaggCgagagtgggcacaggctccg	18	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:3672089C>T	uc002wja.2	-	17	4489	c.4489G>A	c.(4489-4491)GCC>ACC	p.A1497T	SIGLEC1_uc002wjb.1_Missense_Mutation_p.A136T|SIGLEC1_uc002wiz.3_Missense_Mutation_p.A1497T	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1497	Ig-like C2-type 15.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						TGGGTGAAGGCGAGAGTGGGC	0.662													T	3672089	C	T	3672089	3	4	27	1	0	0	0	0	1	0	0	0	14305	768	27	1	660	1	SIGLEC1	20	3672089	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	409708	3672089	59353431	7995	31946											
MAVS	57506	broad.mit.edu	37	chr20	3845392	3845392	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcatggtgctcaccaaggTgtctgccagcacagtcccca	10	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:3845392T>C	uc002wjw.3	+	6	1284	c.1115T>C	c.(1114-1116)GTG>GCG	p.V372A	MAVS_uc002wjx.3_Missense_Mutation_p.V231A|MAVS_uc002wjy.3_Missense_Mutation_p.V70A	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	372	Cytoplasmic (Probable).				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0						CTCACCAAGGTGTCTGCCAGC	0.597													C	3845392	T	C	3845392	3	2	27	1	0	0	0	0	1	0	0	0	9338	1696	59	3	1133	3	MAVS	20	3845392	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	173303	3845392	59180128	7996	31947											
PANK2	80025	broad.mit.edu	37	chr20	3888740	3888740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctacaggcattcgggacGtgcacctcgagctgaaggac	14	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:3888740G>A	uc002wkc.2	+	2	802	c.796G>A	c.(796-798)GTG>ATG	p.V266M	PANK2_uc002wkb.2_Translation_Start_Site|PANK2_uc010gbd.1_RNA|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_Translation_Start_Site|PANK2_uc002wkf.2_Translation_Start_Site	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2 isoform 1 preproprotein	266					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding				0						CATTCGGGACGTGCACCTCGA	0.483													A	3888740	G	A	3888740	3	1	27	1	0	0	0	0	1	0	0	0	11417	1145	40	1	802	1	PANK2	20	3888740	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	43348	3888740	59136780	7997	31948											
PANK2	80025	broad.mit.edu	37	chr20	3899434	3899434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttgaaagcacttttttcGgaacacgaggtaagctgact	10	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:3899434G>A	uc002wkc.2	+	6	1659	c.1653G>A	c.(1651-1653)TCG>TCA	p.S551S	PANK2_uc002wkb.2_Silent_p.S260S|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_Silent_p.S260S|PANK2_uc002wkf.2_Silent_p.S115S|MIR103-2AS_hsa-mir-103-2-as|MI0007262_5'Flank	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2 isoform 1 preproprotein	551					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding				0						CACTTTTTTCGGAACACGAGG	0.438													A	3899434	G	A	3899434	2	1	27	1	0	0	0	0	0	0	0	1	11417	1103	39	1		1	PANK2	20	3899434	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	10694	3899434	59126086	7998	31949											
PRNP	5621	broad.mit.edu	37	chr20	4680403	4680403	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaactttgtgcacgactgCgtcaatatcacaatcaagca	6	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:4680403C>T	uc002wku.2	+	2	900	c.537C>T	c.(535-537)TGC>TGT	p.C179C	PRNP_uc002wkv.2_Silent_p.C179C|PRNP_uc002wkw.2_Silent_p.C179C|PRNP_uc002wkx.2_Silent_p.C179C|PRNP_uc002wkt.1_Silent_p.C149C|PRNP_uc002wky.2_Silent_p.C179C|PRNP_uc010gbe.1_Silent_p.C179C	NM_001080122	NP_001073591	P04156	PRIO_HUMAN	prion protein preproprotein	179	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(1)	1					Tetracycline(DB00759)	TGCACGACTGCGTCAATATCA	0.512													T	4680403	C	T	4680403	2	4	27	1	0	0	0	0	0	0	0	1	12544	776	27	1		1	PRNP	20	4680403	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	780969	4680403	58345117	7999	31950											
PRNP	5621	broad.mit.edu	37	chr20	4680596	4680596	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctccacctgtgatcctcctgAtctctttcctcatcttcctg	4	17	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:4680596A>T	uc002wku.2	+	2	1093	c.730A>T	c.(730-732)ATC>TTC	p.I244F	PRNP_uc002wkv.2_Missense_Mutation_p.I244F|PRNP_uc002wkw.2_Missense_Mutation_p.I244F|PRNP_uc002wkx.2_Missense_Mutation_p.I244F|PRNP_uc002wkt.1_Missense_Mutation_p.I214F|PRNP_uc002wky.2_Missense_Mutation_p.I244F|PRNP_uc010gbe.1_Intron	NM_001080122	NP_001073591	P04156	PRIO_HUMAN	prion protein preproprotein	244					axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(1)	1					Tetracycline(DB00759)	GATCCTCCTGATCTCTTTCCT	0.498													T	4680596	A	T	4680596	3	4	27	1	0	0	0	0	1	0	0	0	12544	333	12	5	732	5	PRNP	20	4680596	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	193	4680596	58344924	8000	31951											
PRND	23627	broad.mit.edu	37	chr20	4705292	4705292	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gacgaggggcatcaagcacaGaatcaagtggaaccggaagg	15	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:4705292G>T	uc002wkz.2	+	2	166	c.95G>T	c.(94-96)AGA>ATA	p.R32I		NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	prion-like protein doppel preproprotein	32	Flexible tail.				protein homooligomerization	anchored to membrane|plasma membrane					0						ATCAAGCACAGAATCAAGTGG	0.627													T	4705292	G	T	4705292	3	4	27	1	0	0	0	0	1	0	0	0	12543	942	33	5	97	5	PRND	20	4705292	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	24696	4705292	58320228	8001	31952											
SLC23A2	9962	broad.mit.edu	37	chr20	4854619	4854619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccacggggctaccagaagCacgccttgcctggcatctgt	11	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:4854619C>T	uc002wlg.1	-	11	1440	c.1065G>A	c.(1063-1065)GTG>GTA	p.V355V	SLC23A2_uc010zqr.1_Silent_p.V240V|SLC23A2_uc002wlh.1_Silent_p.V355V|SLC23A2_uc002wli.2_Silent_p.V354V	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	355					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2						CTACCAGAAGCACGCCTTGCC	0.547													T	4854619	C	T	4854619	2	4	27	1	0	0	0	0	0	0	0	1	14463	697	25	2		2	SLC23A2	20	4854619	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	149327	4854619	58170901	8002	31953											
CHGB	1114	broad.mit.edu	37	chr20	5897496	5897496	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctgcatcattgaggtcCtctcaaatgccttgtcgaag	9	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:5897496C>A	uc002wmg.2	+	3	427	c.121C>A	c.(121-123)CTC>ATC	p.L41I	CHGB_uc010zqz.1_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	41						extracellular region	hormone activity			breast(3)|skin(2)|ovary(1)	6						CATTGAGGTCCTCTCAAATGC	0.567													A	5897496	C	A	5897496	3	1	27	1	0	0	0	0	1	0	0	0	3339	681	24	5	131	5	CHGB	20	5897496	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1042877	5897496	57128024	8003	31954											
MCM8	84515	broad.mit.edu	37	chr20	5933145	5933145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attggatcgattcataccatAtaaaggctggaagctttatt	8	6	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:5933145A>G	uc002wmi.2	+	3	601	c.224A>G	c.(223-225)TAT>TGT	p.Y75C	TRMT6_uc002wmh.1_5'Flank|TRMT6_uc010zra.1_5'Flank|TRMT6_uc010gbn.1_5'Flank|TRMT6_uc010gbo.1_5'Flank|MCM8_uc002wmj.2_Missense_Mutation_p.Y75C|MCM8_uc002wmk.2_Missense_Mutation_p.Y75C|MCM8_uc002wml.2_Missense_Mutation_p.Y75C|MCM8_uc010gbp.2_Missense_Mutation_p.Y75C	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	75					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1						TTCATACCATATAAAGGCTGG	0.338													G	5933145	A	G	5933145	3	3	27	1	0	0	0	0	1	0	0	0	9393	449	16	3	230	3	MCM8	20	5933145	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	35649	5933145	57092375	8004	31955											
MCM8	84515	broad.mit.edu	37	chr20	5948575	5948575	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacaaagagttctgaggatgGgtgtaagcatggaatgttga	14	3	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:5948575G>T	uc002wmi.2	+	10	1504	c.1127G>T	c.(1126-1128)GGG>GTG	p.G376V	MCM8_uc002wmj.2_Missense_Mutation_p.G360V|MCM8_uc002wmk.2_Missense_Mutation_p.G376V|MCM8_uc002wml.2_Missense_Mutation_p.G376V|MCM8_uc010gbp.2_Missense_Mutation_p.G376V|MCM8_uc002wmm.2_5'Flank	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	376					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1						TCTGAGGATGGGTGTAAGCAT	0.353													T	5948575	G	T	5948575	3	4	27	1	0	0	0	0	1	0	0	0	9393	1232	43	5	1161	5	MCM8	20	5948575	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	15430	5948575	57076945	8005	31956											
BMP2	650	broad.mit.edu	37	chr20	6759494	6759494	+	Frame_Shift_Del	DEL	C	C	-													ggaatgactggattgtggctCccccggggtatcacgccttt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:6759493_6759493TC>T	uc002wmu.1	+	2	1733	c.948_948TC>T	c.(946-948)gctfs	p.A316fs		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	316					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	GGATTGTGGCTCCCCCGGGGT	0.512													-	6759494	C	-	6759494	7	5	27	1	0	1	0	1	0	0	0	0	1459	855	30	0	955	0	BMP2	20	6759494	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	810919	6759494	56266026	8006	31957											
HAO1	54363	broad.mit.edu	37	chr20	7866431	7866431	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagagctttcagaacatcAgtgcctttccgcacaccccc	7	17	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:7866431A>G	uc002wmw.1	-	6	918	c.894T>C	c.(892-894)ACT>ACC	p.T298T	HAO1_uc010gbu.2_Silent_p.T298T	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase 1	298	FMN hydroxy acid dehydrogenase.|FMN (By similarity).				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			ovary(3)	3						TCAGAACATCAGTGCCTTTCC	0.502													G	7866431	A	G	7866431	2	3	27	1	0	0	0	0	0	0	0	1	6951	175	7	3		3	HAO1	20	7866431	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1106937	7866431	55159089	8007	31958											
PLCB1	23236	broad.mit.edu	37	chr20	8703028	8703028	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatacggaaagtgacgacgAcgatgatgatgatgactgta	13	5	0	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:8703028A>G	uc002wnb.2	+	15	1544	c.1541A>G	c.(1540-1542)GAC>GGC	p.D514G	PLCB1_uc010zrb.1_Missense_Mutation_p.D413G|PLCB1_uc002wna.2_Missense_Mutation_p.D514G|PLCB1_uc002wnc.1_Missense_Mutation_p.D413G|PLCB1_uc002wnd.1_Missense_Mutation_p.D91G	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	514					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						AGTGACGACGACGATGATGAT	0.413													G	8703028	A	G	8703028	3	3	27	1	0	0	0	0	1	0	0	0	12027	275	10	3	1599	3	PLCB1	20	8703028	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	836597	8703028	54322492	8008	31959											
PAK7	57144	broad.mit.edu	37	chr20	9546626	9546626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtgtgtttctcggtggCgatgcatacgatgccggttg	14	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:9546626C>T	uc002wnl.2	-	6	1941	c.1396G>A	c.(1396-1398)GCC>ACC	p.A466T	PAK7_uc002wnk.2_Missense_Mutation_p.A466T|PAK7_uc002wnj.2_Missense_Mutation_p.A466T|PAK7_uc010gby.1_Missense_Mutation_p.A466T	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	466	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)			TTCTCGGTGGCGATGCATACG	0.527													T	9546626	C	T	9546626	3	4	27	1	0	0	0	0	1	0	0	0	11405	768	27	1	787	1	PAK7	20	9546626	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	843598	9546626	53478894	8009	31960											
ANKRD5	63926	broad.mit.edu	37	chr20	10019012	10019012	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagttcttcaatgtgtgcgGaacaaagacaagaagcagat	10	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:10019012G>A	uc002wno.2	+	3	456	c.63G>A	c.(61-63)CGG>CGA	p.R21R	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Silent_p.R21R|ANKRD5_uc010gbz.2_5'UTR	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	21							calcium ion binding			ovary(1)|breast(1)	2						AATGTGTGCGGAACAAAGACA	0.403													A	10019012	G	A	10019012	2	1	27	1	0	0	0	0	0	0	0	1	676	1161	41	4		4	ANKRD5	20	10019012	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	472386	10019012	53006508	8010	31961											
MKKS	8195	broad.mit.edu	37	chr20	10393240	10393240	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctatggcaataatacgaTgcatattgagaaactgcttc	8	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:10393240T>C	uc002wnt.1	-	3	1810	c.923A>G	c.(922-924)CAT>CGT	p.H308R	MKKS_uc002wnu.1_Missense_Mutation_p.H308R|MKKS_uc010zrd.1_Intron	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome protein	308	Substrate-binding apical domain.				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding				0						AATAATACGATGCATATTGAG	0.403									Bardet-Biedl_syndrome				C	10393240	T	C	10393240	3	2	27	1	0	0	0	0	1	0	0	0	9600	1464	51	3	805	3	MKKS	20	10393240	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	374228	10393240	52632280	8011	31962											
MKKS	8195	broad.mit.edu	37	chr20	10393443	10393443	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgtacaaaagagtgccacCttgagggcagttgatttttt	11	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:10393443C>A	uc002wnt.1	-	3	1607	c.720G>T	c.(718-720)AAG>AAT	p.K240N	MKKS_uc002wnu.1_Missense_Mutation_p.K240N|MKKS_uc010zrd.1_Intron	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome protein	240	Substrate-binding apical domain.				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding				0						AGAGTGCCACCTTGAGGGCAG	0.403									Bardet-Biedl_syndrome				A	10393443	C	A	10393443	3	1	27	1	0	0	0	0	1	0	0	0	9600	680	24	5	1008	5	MKKS	20	10393443	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	203	10393443	52632077	8012	31963											
C20orf94	128710	broad.mit.edu	37	chr20	10541418	10541418	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggaagttcgcaaacagcAcaggccatcaaatgcagaat	9	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:10541418A>G	uc010zre.1	+	4	368	c.188A>G	c.(187-189)CAC>CGC	p.H63R		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	hypothetical protein LOC128710	63							protein binding				0						CGCAAACAGCACAGGCCATCA	0.353													G	10541418	A	G	10541418	3	3	27	1	0	0	0	0	1	0	0	0	2121	159	6	3	198	3	C20orf94	20	10541418	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	147975	10541418	52484102	8013	31964											
JAG1	182	broad.mit.edu	37	chr20	10621534	10621534	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagatcgattattttgtcAgtgatttccttgatcgggtt	9	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:10621534A>G	uc002wnw.2	-	25	3612	c.3096T>C	c.(3094-3096)ACT>ACC	p.T1032T		NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	1032	Extracellular (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						TTATTTTGTCAGTGATTTCCT	0.443									Alagille_Syndrome				G	10621534	A	G	10621534	2	3	27	1	0	0	0	0	0	0	0	1	7934	175	7	3		3	JAG1	20	10621534	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	80116	10621534	52403986	8014	31965											
JAG1	182	broad.mit.edu	37	chr20	10625789	10625789	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccacgtggggcataaagttAcctatgttacaggttgttcc	10	10	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:10625789A>G	uc002wnw.2	-	17	2743	c.2227_splice	c.e17+1	p.A743_splice	JAG1_uc010gcd.1_Splice_Site_p.A301_splice	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor						angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						GCATAAAGTTACCTATGTTAC	0.552									Alagille_Syndrome				G	10625789	A	G	10625789	5	3	27	1	0	0	0	0	0	0	1	0	7934	405	14	3	1467	3	JAG1	20	10625789	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4255	10625789	52399731	8015	31966											
BTBD3	22903	broad.mit.edu	37	chr20	11904244	11904244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgactgtccagtttcagtGctcctcagatagcaccaatg	9	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:11904244G>A	uc002wnz.2	+	4	1858	c.1499G>A	c.(1498-1500)TGC>TAC	p.C500Y	BTBD3_uc002wny.2_Missense_Mutation_p.C439Y|BTBD3_uc002woa.2_Missense_Mutation_p.C439Y|BTBD3_uc010zrf.1_Missense_Mutation_p.C349Y|BTBD3_uc010zrg.1_Missense_Mutation_p.C349Y|BTBD3_uc010zrh.1_Missense_Mutation_p.C349Y	NM_014962	NP_055777	Q9Y2F9	BTBD3_HUMAN	BTB/POZ domain containing protein 3 isoform a	500										ovary(2)|central_nervous_system(1)	3						CAGTTTCAGTGCTCCTCAGAT	0.483													A	11904244	G	A	11904244	3	1	27	1	0	0	0	0	1	0	0	0	1544	1319	46	2	1513	2	BTBD3	20	11904244	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1278455	11904244	51121276	8016	31967											
SPTLC3	55304	broad.mit.edu	37	chr20	13098372	13098372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttacatagctggaaggaaGgtaagagagggcctgcttgt	16	5	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:13098372G>A	uc002wod.1	+	8	1441	c.1152G>A	c.(1150-1152)AAG>AAA	p.K384K		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	384					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)	CTGGAAGGAAGGTAAGAGAGG	0.478													A	13098372	G	A	13098372	2	1	27	1	0	0	0	0	0	0	0	1	15124	1014	35	4		4	SPTLC3	20	13098372	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1194128	13098372	49927148	8017	31968											
ISM1	140862	broad.mit.edu	37	chr20	13260305	13260305	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccatagaggtggtcgacggtCctgactctgaagcagataaa	12	9	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:13260305C>A	uc010gce.1	+	3	409	c.403C>A	c.(403-405)CCT>ACT	p.P135T	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	135						extracellular region					0						GGTCGACGGTCCTGACTCTGA	0.557													A	13260305	C	A	13260305	3	1	27	1	0	0	0	0	1	0	0	0	7860	855	30	5	413	5	ISM1	20	13260305	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	161933	13260305	49765215	8018	31969											
ESF1	51575	broad.mit.edu	37	chr20	13763492	13763493	+	Frame_Shift_Del	DEL	TT	TT	-													gatttcttttttagtctgggTttttttcttctttattttct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:13763491_13763492GTT>G	uc002woj.3	-	1	403_404	c.295_296AAC>C	c.(295-297)accfs	p.T99fs	ESF1_uc002wok.1_Frame_Shift_Del_p.T99fs|NDUFAF5_uc002woo.3_5'Flank|NDUFAF5_uc002wom.3_5'Flank|NDUFAF5_uc002won.3_5'Flank	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	99	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTTAGTCTGGGTTTTTTTCTTC	0.322													-	13763493	TT	-	13763492	7	5	27	1	0	1	0	1	0	0	0	0	5251	1725	60	0	2312	0	ESF1	20	13763492	Frame_Shift_Del	DEL	TT	TCGA-BR-6452-01A-12D-1800-08	503187	13763492	49262028	8019	31970											
KIF16B	55614	broad.mit.edu	37	chr20	16496226	16496226	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagtgtatgactttccagaTccagtttgcccatatgcaaa	7	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:16496226T>C	uc002wpg.1	-	4	473	c.315A>G	c.(313-315)GGA>GGG	p.G105G	KIF16B_uc010gch.1_Silent_p.G105G|KIF16B_uc010gci.1_Silent_p.G105G|KIF16B_uc010gcj.1_Silent_p.G105G	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	105	ATP (Potential).|Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						ACTTTCCAGATCCAGTTTGCC	0.393													C	16496226	T	C	16496226	2	2	27	1	0	0	0	0	0	0	0	1	8278	1422	50	3		3	KIF16B	20	16496226	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2732734	16496226	46529294	8020	31971											
OTOR	56914	broad.mit.edu	37	chr20	16729574	16729574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggactgtagattcattaacGttaaaaaagggcagcagatc	10	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:16729574G>A	uc002wpj.2	+	2	222	c.178G>A	c.(178-180)GTT>ATT	p.V60I	OTOR_uc002wpk.2_5'Flank	NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	otoraplin precursor	60	SH3.				sensory perception of sound	extracellular region				ovary(1)|central_nervous_system(1)	2						ATTCATTAACGTTAAAAAAGG	0.353													A	16729574	G	A	16729574	3	1	27	1	0	0	0	0	1	0	0	0	11308	1145	40	1	184	1	OTOR	20	16729574	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	233348	16729574	46295946	8021	31972											
SNX5	27131	broad.mit.edu	37	chr20	17930823	17930823	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaggctatgtaagcaggcTgcggtgtggatatagtcatc	14	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:17930823T>C	uc002wqc.2	-	8	830	c.744A>G	c.(742-744)GCA>GCG	p.A248A	SNX5_uc002wqb.2_RNA|SNX5_uc002wqd.2_Silent_p.A248A|SNX5_uc002wqe.2_Silent_p.A143A|SNX5_uc010zrt.1_Silent_p.A248A	NM_014426	NP_055241	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	248	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			large_intestine(1)	1						GTAAGCAGGCTGCGGTGTGGA	0.453													C	17930823	T	C	17930823	2	2	27	1	0	0	0	0	0	0	0	1	14905	1567	55	3		3	SNX5	20	17930823	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1201249	17930823	45094697	8022	31973											
C20orf72	92667	broad.mit.edu	37	chr20	17970645	17970645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcccacccacatttcatgGatgcagagctctgttcccag	8	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:17970645G>A	uc002wqh.2	+	5	1010	c.928G>A	c.(928-930)GAT>AAT	p.D310N	C20orf72_uc010gco.2_RNA|C20orf72_uc010gcp.2_RNA	NM_052865	NP_443097	Q9BQP7	CT072_HUMAN	hypothetical protein LOC92667	310											0						ACATTTCATGGATGCAGAGCT	0.433													A	17970645	G	A	17970645	3	1	27	1	0	0	0	0	1	0	0	0	2118	1174	41	4	942	4	C20orf72	20	17970645	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	39822	17970645	45054875	8023	31974											
OVOL2	58495	broad.mit.edu	37	chr20	18005394	18005394	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttgagaaacgagctgccCggatgggcactgttcacgtg	13	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:18005394C>T	uc002wqi.1	-	4	957	c.714G>A	c.(712-714)CCG>CCA	p.P238P		NM_021220	NP_067043	Q9BRP0	OVOL2_HUMAN	zinc finger protein 339	238					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)	1						ACGAGCTGCCCGGATGGGCAC	0.557													T	18005394	C	T	18005394	2	4	27	1	0	0	0	0	0	0	0	1	11327	639	23	1		1	OVOL2	20	18005394	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	34749	18005394	45020126	8024	31975											
CSRP2BP	57325	broad.mit.edu	37	chr20	18163876	18163876	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccgacgcacctctcgatTactgttatgtgcggccaaat	9	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:18163876T>C	uc002wqj.2	+	9	2540	c.1918T>C	c.(1918-1920)TAC>CAC	p.Y640H	CSRP2BP_uc002wqk.2_Missense_Mutation_p.Y512H|CSRP2BP_uc010zru.1_Missense_Mutation_p.Y511H	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	640	N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						ACCTCTCGATTACTGTTATGT	0.542													C	18163876	T	C	18163876	3	2	27	1	0	0	0	0	1	0	0	0	3968	1754	61	3	1948	3	CSRP2BP	20	18163876	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	158482	18163876	44861644	8025	31976											
SEC23B	10483	broad.mit.edu	37	chr20	18523773	18523773	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgagcggagtcagaggaggGgcccgatgtgctccggtggc	19	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:18523773G>T	uc002wqz.1	+	14	2065	c.1622G>T	c.(1621-1623)GGG>GTG	p.G541V	SEC23B_uc002wra.1_Missense_Mutation_p.G541V|SEC23B_uc002wrb.1_Missense_Mutation_p.G541V|SEC23B_uc010zsb.1_Missense_Mutation_p.G523V|SEC23B_uc002wrc.1_Missense_Mutation_p.G541V	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B	541					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1						TCAGAGGAGGGGCCCGATGTG	0.557													T	18523773	G	T	18523773	3	4	27	1	0	0	0	0	1	0	0	0	13992	1232	43	5	1672	5	SEC23B	20	18523773	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	359897	18523773	44501747	8026	31977											
RIN2	54453	broad.mit.edu	37	chr20	19956264	19956264	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcacctacttcgggtgctTagtgcaggactacgtgagct	12	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:19956264T>C	uc002wro.1	+	7	1631	c.1595T>C	c.(1594-1596)TTA>TCA	p.L532S	RIN2_uc010gcu.1_Intron|RIN2_uc010gcv.1_Missense_Mutation_p.L326S	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	532					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5						TTCGGGTGCTTAGTGCAGGAC	0.592													C	19956264	T	C	19956264	3	2	27	1	0	0	0	0	1	0	0	0	13372	1764	61	3	1621	3	RIN2	20	19956264	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1432491	19956264	43069256	8027	31978											
RIN2	54453	broad.mit.edu	37	chr20	19981261	19981261	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcttccacctgcagaattAcctccgagttgcatttcagg	7	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:19981261A>G	uc002wro.1	+	11	2405	c.2369A>G	c.(2368-2370)TAC>TGC	p.Y790C	RIN2_uc010gcu.1_Missense_Mutation_p.Y357C|RIN2_uc010gcv.1_Missense_Mutation_p.Y584C	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	790	Ras-associating.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5						CTGCAGAATTACCTCCGAGTT	0.498													G	19981261	A	G	19981261	3	3	27	1	0	0	0	0	1	0	0	0	13372	391	14	3	2411	3	RIN2	20	19981261	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	24997	19981261	43044259	8028	31979											
RIN2	54453	broad.mit.edu	37	chr20	19981487	19981487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgcacagccgaccacaGccccacatcttccactttgt	7	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:19981487G>A	uc002wro.1	+	11	2631	c.2595G>A	c.(2593-2595)CAG>CAA	p.Q865Q	RIN2_uc010gcu.1_Silent_p.Q432Q|RIN2_uc010gcv.1_Silent_p.Q659Q	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	865	Ras-associating.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5						GCCGACCACAGCCCCACATCT	0.512													A	19981487	G	A	19981487	2	1	27	1	0	0	0	0	0	0	0	1	13372	962	34	2		2	RIN2	20	19981487	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	226	19981487	43044033	8029	31980											
CRNKL1	51340	broad.mit.edu	37	chr20	20020360	20020360	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgaatttaatccatgaggTacaattttcaggtccaaatt	7	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:20020360T>C	uc002wrs.2	-	12	1953	c.1921A>G	c.(1921-1923)ACC>GCC	p.T641A		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	641	HAT 12.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3						ATCCATGAGGTACAATTTTCA	0.383													C	20020360	T	C	20020360	3	2	27	1	0	0	0	0	1	0	0	0	3891	1638	57	3	641	3	CRNKL1	20	20020360	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	38873	20020360	43005160	8030	31981											
CRNKL1	51340	broad.mit.edu	37	chr20	20029028	20029028	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgttgttatggcccggtcCcagatatttcgagcatggtt	12	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:20029028C>T	uc002wrs.2	-	5	929	c.897G>A	c.(895-897)TGG>TGA	p.W299*	CRNKL1_uc002wrt.1_Nonsense_Mutation_p.W287*	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	299	HAT 3.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3						TGGCCCGGTCCCAGATATTTC	0.423													T	20029028	C	T	20029028	4	4	27	1	0	0	0	0	0	1	0	0	3891	624	22	4	1693	4	CRNKL1	20	20029028	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	8668	20029028	42996492	8031	31982											
C20orf26	26074	broad.mit.edu	37	chr20	20258096	20258096	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accaagcctttcagactccaGtgctctgtaagtgggtccct	9	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:20258096G>T	uc002wru.2	+	22	2866	c.2790G>T	c.(2788-2790)CAG>CAT	p.Q930H	C20orf26_uc010zse.1_Missense_Mutation_p.Q910H|C20orf26_uc002wrw.2_RNA	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	930										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		TCAGACTCCAGTGCTCTGTAA	0.582													T	20258096	G	T	20258096	3	4	27	1	0	0	0	0	1	0	0	0	2106	1020	36	5	2904	5	C20orf26	20	20258096	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	229068	20258096	42767424	8032	31983											
RALGAPA2	57186	broad.mit.edu	37	chr20	20392719	20392719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagaaaagacttgggctgCgaaatcctcgaatgtcatta	12	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:20392719C>T	uc002wrz.2	-	38	5712	c.5569G>A	c.(5569-5571)GCA>ACA	p.A1857T	RALGAPA2_uc010gcx.2_Missense_Mutation_p.A1561T|RALGAPA2_uc010zsg.1_Missense_Mutation_p.A1305T	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1857					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						ACTTGGGCTGCGAAATCCTCG	0.493													T	20392719	C	T	20392719	3	4	27	1	0	0	0	0	1	0	0	0	13014	768	27	1	60	1	RALGAPA2	20	20392719	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	134623	20392719	42632801	8033	31984											
RALGAPA2	57186	broad.mit.edu	37	chr20	20493484	20493484	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccccctcctcaacttgagaaGagtctttctgaggtccaaat	7	13	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:20493484G>A	uc002wrz.2	-	32	4672	c.4529C>T	c.(4528-4530)TCT>TTT	p.S1510F	RALGAPA2_uc010gcx.2_Missense_Mutation_p.S1214F|RALGAPA2_uc010zsg.1_Missense_Mutation_p.S958F|RALGAPA2_uc002wsa.1_Missense_Mutation_p.S282F	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1510					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						AACTTGAGAAGAGTCTTTCTG	0.418													A	20493484	G	A	20493484	3	1	27	1	0	0	0	0	1	0	0	0	13014	942	33	4	1124	4	RALGAPA2	20	20493484	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	100765	20493484	42532036	8034	31985											
RALGAPA2	57186	broad.mit.edu	37	chr20	20501735	20501735	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttgagccacacacacagcAgtgcaaaacctgtgaaaaca	8	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:20501735A>G	uc002wrz.2	-	31	4053	c.3910T>C	c.(3910-3912)TGC>CGC	p.C1304R	RALGAPA2_uc010gcx.2_Missense_Mutation_p.C1008R|RALGAPA2_uc010zsg.1_Missense_Mutation_p.C752R|RALGAPA2_uc002wsa.1_Missense_Mutation_p.C76R	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1304					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						CACACACAGCAGTGCAAAACC	0.542													G	20501735	A	G	20501735	3	3	27	1	0	0	0	0	1	0	0	0	13014	188	7	3	1747	3	RALGAPA2	20	20501735	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	8251	20501735	42523785	8035	31986											
XRN2	22803	broad.mit.edu	37	chr20	21314803	21314803	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagttgaggatagcatttttAaaaagagaaaggatgatgag	12	1	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:21314803A>T	uc002wsf.1	+	13	1308	c.1213A>T	c.(1213-1215)AAA>TAA	p.K405*	XRN2_uc002wsg.1_Nonsense_Mutation_p.K329*|XRN2_uc010zsk.1_Nonsense_Mutation_p.K351*	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	405					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1						TAGCATTTTTAAAAAGAGAAA	0.358													T	21314803	A	T	21314803	4	4	27	1	0	0	0	0	0	1	0	0	17457	363	13	5	1263	5	XRN2	20	21314803	Nonsense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	813068	21314803	41710717	8036	31987											
XRN2	22803	broad.mit.edu	37	chr20	21367535	21367535	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctgaacctctgctcccatGgaaccggatgctgcaaaccc	10	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:21367535G>T	uc002wsf.1	+	29	2773	c.2678G>T	c.(2677-2679)TGG>TTG	p.W893L	XRN2_uc002wsg.1_Missense_Mutation_p.W817L|XRN2_uc010zsk.1_Missense_Mutation_p.W839L|XRN2_uc002wsh.1_Missense_Mutation_p.W31L	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	893					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1						CTGCTCCCATGGAACCGGATG	0.527													T	21367535	G	T	21367535	3	4	27	1	0	0	0	0	1	0	0	0	17457	1357	47	5	2792	5	XRN2	20	21367535	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	52732	21367535	41657985	8037	31988											
NKX2-2	4821	broad.mit.edu	37	chr20	21494135	21494135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggttcttcaggggcaggCtctgcaccgcgtccagggcg	17	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:21494135C>T	uc002wsi.2	-	1	530	c.173G>A	c.(172-174)AGC>AAC	p.S58N		NM_002509	NP_002500	O95096	NKX22_HUMAN	NK2 transcription factor related, locus 2	58					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			pancreas(1)|skin(1)	2						CAGGGGCAGGCTCTGCACCGC	0.677													T	21494135	C	T	21494135	3	4	27	1	0	0	0	0	1	0	0	0	10450	797	28	2	656	2	NKX2-2	20	21494135	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	126600	21494135	41531385	8038	31989											
PAX1	5075	broad.mit.edu	37	chr20	21687524	21687524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgccgtcgcagcctacGctgccctacaaccacatcta	7	19	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:21687524G>A	uc002wsj.2	+	2	789	c.735G>A	c.(733-735)ACG>ACA	p.T245T	PAX1_uc010zsl.1_Silent_p.T245T|PAX1_uc010zsm.1_Silent_p.T221T	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	245					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						CGCAGCCTACGCTGCCCTACA	0.692													A	21687524	G	A	21687524	2	1	27	1	0	0	0	0	0	0	0	1	11478	1074	38	1		1	PAX1	20	21687524	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	193389	21687524	41337996	8039	31990											
FOXA2	3170	broad.mit.edu	37	chr20	22563705	22563705	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcatgttgcccgagccgcTgcccatggcggccgccgaca	13	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:22563705T>C	uc002wsn.2	-	3	347	c.157A>G	c.(157-159)AGC>GGC	p.S53G	FOXA2_uc002wsm.2_Missense_Mutation_p.S59G	NM_153675	NP_710141	Q9Y261	FOXA2_HUMAN	forkhead box A2 isoform 2	53	Transactivation domain 1 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|kidney(1)|central_nervous_system(1)	4	Lung NSC(19;0.188)					CCCGAGCCGCTGCCCATGGCG	0.682													C	22563705	T	C	22563705	3	2	27	1	0	0	0	0	1	0	0	0	5990	1580	55	3	1220	3	FOXA2	20	22563705	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	876181	22563705	40461815	8040	31991											
SSTR4	6754	broad.mit.edu	37	chr20	23016554	23016554	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctcagcgtggaccgctAcgtggccgtggtgcaccctc	14	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:23016554A>G	uc002wsr.2	+	1	498	c.434A>G	c.(433-435)TAC>TGC	p.Y145C		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	145	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTGGACCGCTACGTGGCCGTG	0.677													G	23016554	A	G	23016554	3	3	27	1	0	0	0	0	1	0	0	0	15199	391	14	3	436	3	SSTR4	20	23016554	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	452849	23016554	40008966	8041	31992											
THBD	7056	broad.mit.edu	37	chr20	23028480	23028480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctccttggaaggggccgcGcacttgtactccatcttggc	11	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:23028480G>A	uc002wss.2	-	1	1822	c.1662C>T	c.(1660-1662)TGC>TGT	p.C554C	THBD_uc002wst.1_RNA	NM_000361	NP_000352	P07204	TRBM_HUMAN	thrombomodulin precursor	554	Cytoplasmic (Potential).				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity				0	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	AAGGGGCCGCGCACTTGTACT	0.682													A	23028480	G	A	23028480	2	1	27	1	0	0	0	0	0	0	0	1	15849	1079	38	1		1	THBD	20	23028480	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	11926	23028480	39997040	8042	31993											
CD93	22918	broad.mit.edu	37	chr20	23065992	23065992	+	Frame_Shift_Del	DEL	C	C	-													gccgcagaggaaggagccatCccccccttcaaagcagtcct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:23065991_23065991TC>T	uc002wsv.3	-	0	987	c.839_839GA>A	c.(838-840)gatfs	p.D280fs		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	280	EGF-like 1.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.D280N(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAAGGAGCCATCCCCCCCTTC	0.632													-	23065992	C	-	23065992	7	5	27	1	0	1	0	1	0	0	0	0	3047	855	30	0	1128	0	CD93	20	23065992	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	37512	23065992	39959528	8043	31994											
GZF1	64412	broad.mit.edu	37	chr20	23346229	23346229	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggtgcatgagggcggCggcgagcggcaccgctgcgg	20	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:23346229C>T	uc010gdb.2	+	3	1383	c.1209C>T	c.(1207-1209)GGC>GGT	p.G403G	GZF1_uc002wsy.2_Silent_p.G403G|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Silent_p.G403G	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	403					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ATGAGGGCGGCGGCGAGCGGC	0.672													T	23346229	C	T	23346229	2	4	27	1	0	0	0	0	0	0	0	1	6914	755	27	1		1	GZF1	20	23346229	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	280237	23346229	39679291	8044	31995											
CST8	10047	broad.mit.edu	37	chr20	23473618	23473618	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaatcttctggaatacctTattgatgtagaaattgcccg	7	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:23473618T>C	uc002wth.1	+	3	612	c.255T>C	c.(253-255)CTT>CTC	p.L85L		NM_005492	NP_005483	O60676	CST8_HUMAN	cystatin 8 precursor	85						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TGGAATACCTTATTGATGTAG	0.343													C	23473618	T	C	23473618	2	2	27	1	0	0	0	0	0	0	0	1	3978	1741	61	3		3	CST8	20	23473618	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	127389	23473618	39551902	8045	31996											
GGTLC1	92086	broad.mit.edu	37	chr20	23966738	23966739	+	Frame_Shift_Ins	INS	-	-	G													ggatgaaattggcaggtgagINSgggggtaccccaaactcgtt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:23966737_23966738A>AG	uc002wts.3	-	2	412_413	c.279_280T>CT	c.(277-282)ccctcafs	p.P93fs	GGTLC1_uc002wtu.3_Frame_Shift_Ins_p.P93fs|DQ583395_uc021wbk.1_5'Flank	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.	93							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						TTGGCAGGTGAGGGGGGTACCC	0.609													G	23966739	-	G	23966738	7	5	27	1	0	1	1	0	0	0	0	0	6365	987	35	0	414	0	GGTLC1	20	23966738	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	493120	23966738	39058782	8046	31997											
CST7	8530	broad.mit.edu	37	chr20	24930101	24930101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgagaaggcactgcacgGccacccccaactgccccgca	10	19	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:24930101G>A	uc002wtx.1	+	1	236	c.26G>A	c.(25-27)GGC>GAC	p.G9D		NM_003650	NP_003641	O76096	CYTF_HUMAN	cystatin F	Error:Variant_position_missing_in_O76096_after_alignment					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1						GCACTGCACGGCCACCCCCAA	0.677													A	24930101	G	A	24930101	3	1	27	1	0	0	0	0	1	0	0	0	3977	1218	42	2		2	CST7	20	24930101	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	963363	24930101	38095419	8047	31998											
PYGB	5834	broad.mit.edu	37	chr20	25252028	25252028	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gattttttcagcgtgtttccTtgactcaatggctaccttgg	9	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:25252028T>A	uc002wup.2	+	4	543	c.434T>A	c.(433-435)CTT>CAT	p.L145H		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	145					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	GCGTGTTTCCTTGACTCAATG	0.502													A	25252028	T	A	25252028	3	1	27	1	0	0	0	0	1	0	0	0	12860	1609	56	5	448	5	PYGB	20	25252028	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	321927	25252028	37773492	8048	31999											
PYGB	5834	broad.mit.edu	37	chr20	25259027	25259027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgctccaggacatcatcCgccgcttcaagtcgtccaag	8	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:25259027C>T	uc002wup.2	+	8	1037	c.928C>T	c.(928-930)CGC>TGC	p.R310C		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	310					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	GGACATCATCCGCCGCTTCAA	0.607													T	25259027	C	T	25259027	3	4	27	1	0	0	0	0	1	0	0	0	12860	652	23	1	958	1	PYGB	20	25259027	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6999	25259027	37766493	8049	32000											
ABHD12	26090	broad.mit.edu	37	chr20	25319884	25319884	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaattcaagaaaatcagttTggcctgtattccaggacata	8	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:25319884T>C	uc002wus.1	-	2	433	c.295A>G	c.(295-297)AAA>GAA	p.K99E	ABHD12_uc002wuq.2_Missense_Mutation_p.K99E|ABHD12_uc002wur.2_Missense_Mutation_p.K99E|ABHD12_uc002wut.1_Missense_Mutation_p.K99E|ABHD12_uc002wuu.1_5'UTR	NM_001042472	NP_001035937	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12 isoform a	99	Extracellular (Potential).					integral to membrane	acylglycerol lipase activity			skin(1)	1						AAAATCAGTTTGGCCTGTATT	0.398													C	25319884	T	C	25319884	3	2	27	1	0	0	0	0	1	0	0	0	76	1821	63	3	1011	3	ABHD12	20	25319884	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	60857	25319884	37705636	8050	32001											
GINS1	9837	broad.mit.edu	37	chr20	25405924	25405924	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagatgaaggtttggacatTacacaggatatgaaaccacc	11	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:25405924T>C	uc002wuv.1	+	5	542	c.408T>C	c.(406-408)ATT>ATC	p.I136I	GINS1_uc010zte.1_RNA	NM_021067	NP_066545	Q14691	PSF1_HUMAN	GINS complex subunit 1	136					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				ovary(1)|central_nervous_system(1)	2						GTTTGGACATTACACAGGATA	0.313													C	25405924	T	C	25405924	2	2	27	1	0	0	0	0	0	0	0	1	6387	1742	61	3		3	GINS1	20	25405924	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	86040	25405924	37619596	8051	32002											
NINL	22981	broad.mit.edu	37	chr20	25456724	25456724	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttctccagagcccggacgAcgtcttccagatgtagaagt	11	11	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:25456724A>G	uc002wux.1	-	17	3277	c.3203T>C	c.(3202-3204)GTC>GCC	p.V1068A	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	1068	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						AGCCCGGACGACGTCTTCCAG	0.463													G	25456724	A	G	25456724	3	3	27	1	0	0	0	0	1	0	0	0	10420	275	10	3	977	3	NINL	20	25456724	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	50800	25456724	37568796	8052	32003											
NINL	22981	broad.mit.edu	37	chr20	25459717	25459717	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgagacttctcgtggagCtcctccaggtcggccttctg	11	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:25459717C>A	uc002wux.1	-	16	2117	c.2043G>T	c.(2041-2043)GAG>GAT	p.E681D	NINL_uc010gdn.1_Missense_Mutation_p.E681D|NINL_uc010gdo.1_Missense_Mutation_p.E464D	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	681	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						TCTCGTGGAGCTCCTCCAGGT	0.647													A	25459717	C	A	25459717	3	1	27	1	0	0	0	0	1	0	0	0	10420	796	28	5	2141	5	NINL	20	25459717	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2993	25459717	37565803	8053	32004											
ZNF337	26152	broad.mit.edu	37	chr20	25656610	25656610	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacttctgaataaatccttgCccacattctctacaaacaaa	3	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:25656610C>A	uc002wva.2	-	4	1836	c.1314G>T	c.(1312-1314)GGG>GGT	p.G438G	uc002wuz.2_RNA|ZNF337_uc010ztg.1_Silent_p.G406G|ZNF337_uc002wvb.2_Silent_p.G438G|ZNF337_uc002wvc.2_Silent_p.G438G	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	438	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TAAATCCTTGCCCACATTCTC	0.448													A	25656610	C	A	25656610	2	1	27	1	0	0	0	0	0	0	0	1	17850	726	26	5		5	ZNF337	20	25656610	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	196893	25656610	37368910	8054	32005											
HM13	81502	broad.mit.edu	37	chr20	30115329	30115329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatcaccagccgggatgccGcccgcttccccatcatcgcc	8	20	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:30115329G>A	uc002wwe.2	+	2	340	c.226G>A	c.(226-228)GCC>ACC	p.A76T	HM13_uc002wwc.2_Missense_Mutation_p.A76T|HM13_uc002wwd.2_Missense_Mutation_p.A76T|HM13_uc002wwb.1_Missense_Mutation_p.A76T	NM_030789	NP_110416	Q8TCT9	HM13_HUMAN	minor histocompatibility antigen 13 isoform 1	76	Cytoplasmic (Potential).				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)	1	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CCGGGATGCCGCCCGCTTCCC	0.493													A	30115329	G	A	30115329	3	1	27	1	0	0	0	0	1	0	0	0	7217	1087	38	1	232	1	HM13	20	30115329	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4458719	30115329	32910191	8055	32006											
COX4I2	84701	broad.mit.edu	37	chr20	30231252	30231252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgcggagatgaaccgtcGctccaatgagtggaagacag	13	9	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:30231252G>A	uc002wwj.1	+	4	368	c.293G>A	c.(292-294)CGC>CAC	p.R98H	COX4I2_uc002wwi.2_Missense_Mutation_p.R98H	NM_032609	NP_115998	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2	98					cellular respiration		cytochrome-c oxidase activity			ovary(1)	1	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			ATGAACCGTCGCTCCAATGAG	0.552													A	30231252	G	A	30231252	3	1	27	1	0	0	0	0	1	0	0	0	3770	1087	38	1	303	1	COX4I2	20	30231252	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	115923	30231252	32794268	8056	32007											
COX4I2	84701	broad.mit.edu	37	chr20	30231301	30231301	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcttcttcttcattggAttcgcagctctggtgatttg	10	8	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:30231301A>T	uc002wwj.1	+	4	417	c.342A>T	c.(340-342)GGA>GGT	p.G114G	COX4I2_uc002wwi.2_Silent_p.G114G	NM_032609	NP_115998	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2	114					cellular respiration		cytochrome-c oxidase activity			ovary(1)	1	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			TCTTCATTGGATTCGCAGCTC	0.562													T	30231301	A	T	30231301	2	4	27	1	0	0	0	0	0	0	0	1	3770	320	12	5		5	COX4I2	20	30231301	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	49	30231301	32794219	8057	32008											
TTLL9	164395	broad.mit.edu	37	chr20	30486365	30486365	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaggatgggtggaagtgaAggagtaagaccctcccccca	14	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:30486365A>C	uc010gdx.1	+	4	456	c.203A>C	c.(202-204)AAG>ACG	p.K68T	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.E77D|TTLL9_uc010ztp.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	68	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTGGAAGTGAAGGAGTAAGAC	0.562													C	30486365	A	C	30486365	3	2	27	1	0	0	0	0	1	0	0	0	16731	72	3	5	213	5	TTLL9	20	30486365	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	255064	30486365	32539155	8058	32009											
PDRG1	81572	broad.mit.edu	37	chr20	30534348	30534348	+	Frame_Shift_Del	DEL	T	T	-													actttaagttgcttccgcagTttttctatttctttatccag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:30534347_30534347GT>G	uc002wxd.3	-	3	390	c.271_271AC>C	c.(271-273)ctgfs	p.L91fs		NM_030815	NP_110442	Q9NUG6	PDRG1_HUMAN	Homo sapiens p53 and DNA-damage regulated 1 (PDRG1), mRNA.	91					protein folding	prefoldin complex	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	8			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGCTTCCGCAGTTTTTCTATT	0.453													-	30534348	T	-	30534348	7	5	27	1	0	1	0	1	0	0	0	0	11690	1722	60	0	139	0	PDRG1	20	30534348	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	47983	30534348	32491172	8059	32010											
XKR7	343702	broad.mit.edu	37	chr20	30556122	30556122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtcggggcgggcggcccGgggccgcgctacgagctgcg	21	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:30556122G>A	uc002wxe.2	+	1	318	c.144G>A	c.(142-144)CCG>CCA	p.P48P		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	48						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			cgggcggcccggggccgcgcT	0.443													A	30556122	G	A	30556122	2	1	27	1	0	0	0	0	0	0	0	1	17433	1103	39	1		1	XKR7	20	30556122	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	21774	30556122	32469398	8060	32011											
XKR7	343702	broad.mit.edu	37	chr20	30584555	30584555	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaccttctgggtcatccaAggggagacggacttctgcat	12	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:30584555A>G	uc002wxe.2	+	3	1209	c.1035A>G	c.(1033-1035)CAA>CAG	p.Q345Q		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	345						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGGTCATCCAAGGGGAGACGG	0.567													G	30584555	A	G	30584555	2	3	27	1	0	0	0	0	0	0	0	1	17433	69	3	3		3	XKR7	20	30584555	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	28433	30584555	32440965	8061	32012											
XKR7	343702	broad.mit.edu	37	chr20	30585102	30585102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcatccggattgacttgCctcgcaagaagtacccggcc	10	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:30585102C>T	uc002wxe.2	+	3	1756	c.1582C>T	c.(1582-1584)CCT>TCT	p.P528S		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	528						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GATTGACTTGCCTCGCAAGAA	0.642													T	30585102	C	T	30585102	3	4	27	1	0	0	0	0	1	0	0	0	17433	739	26	2	1592	2	XKR7	20	30585102	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	547	30585102	32440418	8062	32013											
C20orf160	140706	broad.mit.edu	37	chr20	30610484	30610484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctgcagaggagtcctgcGcactcatctgtcaggtcttc	11	13	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:30610484G>A	uc002wxf.2	+	6	968	c.955G>A	c.(955-957)GCA>ACA	p.A319T	C20orf160_uc002wxg.2_5'UTR	NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	hypothetical protein LOC140706	319										central_nervous_system(3)|ovary(1)	4						GGAGTCCTGCGCACTCATCTG	0.562													A	30610484	G	A	30610484	3	1	27	1	0	0	0	0	1	0	0	0	2093	1087	38	1	977	1	C20orf160	20	30610484	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	25382	30610484	32415036	8063	32014											
ASXL1	171023	broad.mit.edu	37	chr20	31024914	31024914	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcccacctttcccaaaggcCttgctggaagtgtggtgcag	11	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:31024914C>A	uc002wxs.2	+	12	4825	c.4399C>A	c.(4399-4401)CTT>ATT	p.L1467I	ASXL1_uc010geb.2_Missense_Mutation_p.L1358I	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	1467					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						TCCCAAAGGCCTTGCTGGAAG	0.488			F|N|Mis		MDS|CMML								A	31024914	C	A	31024914	3	1	27	1	0	0	0	0	1	0	0	0	1066	681	24	5	4455	5	ASXL1	20	31024914	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	414430	31024914	32000606	8064	32015											
C20orf112	140688	broad.mit.edu	37	chr20	31041214	31041214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccggctgcaggactcgaTgatggcctggatcttctcct	12	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:31041214T>C	uc002wxu.3	-	5	815	c.658A>G	c.(658-660)ATC>GTC	p.I220V	C20orf112_uc010gec.2_Missense_Mutation_p.I45V	NM_080616	NP_542183	Q96MY1	CT112_HUMAN	hypothetical protein LOC140688	220											0						CAGGACTCGATGATGGCCTGG	0.602													C	31041214	T	C	31041214	3	2	27	1	0	0	0	0	1	0	0	0	2081	1464	51	3	668	3	C20orf112	20	31041214	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	16300	31041214	31984306	8065	32016											
C20orf186	149954	broad.mit.edu	37	chr20	31676772	31676772	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgctcctgtctccttagGcttctccccaatctcgtgga	7	16	3	0	rs149304342		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:31676772G>A	uc010zue.1	+	6	942	c.927G>A	c.(925-927)GGG>GGA	p.G309G		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	309						cytoplasm|extracellular region	lipid binding				0						GTCTCCTTAGGCTTCTCCCCA	0.577													A	31676772	G	A	31676772	2	1	27	1	0	0	0	0	0	0	0	1	2098	1217	42	2		2	C20orf186	20	31676772	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	635558	31676772	31348748	8066	32017											
PLUNC	51297	broad.mit.edu	37	chr20	31825664	31825664	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcccacaggtcttgcaggAagcttgacaaatggtgagtt	12	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:31825664A>G	uc002wyv.2	+	2	217	c.147A>G	c.(145-147)GGA>GGG	p.G49G	PLUNC_uc002wyt.3_Silent_p.G49G|PLUNC_uc002wyu.3_Silent_p.G49G	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	palate, lung and nasal epithelium associated	49					innate immune response	extracellular region	lipid binding				0						GTCTTGCAGGAAGCTTGACAA	0.398													G	31825664	A	G	31825664	2	3	27	1	0	0	0	0	0	0	0	1	12115	233	9	3		3	PLUNC	20	31825664	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	148892	31825664	31199856	8067	32018											
PLUNC	51297	broad.mit.edu	37	chr20	31825986	31825986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggactgcttggaaaagtgAcgtcagtgattcctggcctg	15	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:31825986A>G	uc002wyv.2	+	3	356	c.286A>G	c.(286-288)ACG>GCG	p.T96A	PLUNC_uc002wyt.3_Missense_Mutation_p.T96A|PLUNC_uc002wyu.3_Missense_Mutation_p.T96A	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	palate, lung and nasal epithelium associated	96					innate immune response	extracellular region	lipid binding				0						TGGAAAAGTGACGTCAGTGAT	0.542													G	31825986	A	G	31825986	3	3	27	1	0	0	0	0	1	0	0	0	12115	275	10	3	292	3	PLUNC	20	31825986	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	322	31825986	31199534	8068	32019											
CDK5RAP1	51654	broad.mit.edu	37	chr20	31982904	31982904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattcacattcatctggcagCcataggtctcgaggtagact	9	11	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:31982904C>T	uc010gek.2	-	3	447	c.323G>A	c.(322-324)GGC>GAC	p.G108D	CDK5RAP1_uc002wyy.2_Missense_Mutation_p.G18D|CDK5RAP1_uc002wyz.2_Missense_Mutation_p.G108D|CDK5RAP1_uc002wza.2_Missense_Mutation_p.G108D|CDK5RAP1_uc010gel.2_Missense_Mutation_p.G17D|CDK5RAP1_uc010gem.2_Missense_Mutation_p.G108D|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.G108D|CDK5RAP1_uc010gen.2_Missense_Mutation_p.G108D	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	108	MTTase N-terminal.|CDK5 activation inhibition.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			ovary(2)|skin(2)|lung(1)	5						CATCTGGCAGCCATAGGTCTC	0.507													T	31982904	C	T	31982904	3	4	27	1	0	0	0	0	1	0	0	0	3145	739	26	2	1488	2	CDK5RAP1	20	31982904	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	156918	31982904	31042616	8069	32020											
NECAB3	63941	broad.mit.edu	37	chr20	32258498	32258498	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcatactcactcggtgagAtgcccatcaatgccgctgaa	8	13	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:32258498A>G	uc002wzn.3	-	3	361	c.255T>C	c.(253-255)CAT>CAC	p.H85H	NECAB3_uc002wzm.3_Silent_p.H85H|NECAB3_uc002wzo.3_RNA|NECAB3_uc002wzp.3_Silent_p.H36H|NECAB3_uc002wzq.3_Silent_p.H85H|NECAB3_uc002wzr.3_RNA|NECAB3_uc010geo.2_Silent_p.H85H	NM_031232	NP_112509	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	85					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			lung(1)	1						ACTCGGTGAGATGCCCATCAA	0.542													G	32258498	A	G	32258498	2	3	27	1	0	0	0	0	0	0	0	1	10306	330	12	3		3	NECAB3	20	32258498	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	275594	32258498	30767022	8070	32021											
RALY	22913	broad.mit.edu	37	chr20	32660018	32660018	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accatcttctctaagtatggCcgtgtggccggctgttctgt	11	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:32660018C>A	uc002xab.2	+	3	436	c.138C>A	c.(136-138)GGC>GGA	p.G46G	RALY_uc010zui.1_Silent_p.G46G|RALY_uc002xac.2_Silent_p.G46G|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Silent_p.G46G	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	RNA binding protein (autoantigenic,	46	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(1)	1						CTAAGTATGGCCGTGTGGCCG	0.537													A	32660018	C	A	32660018	2	1	27	1	0	0	0	0	0	0	0	1	13019	726	26	5		5	RALY	20	32660018	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	401520	32660018	30365502	8071	32022											
ASIP	434	broad.mit.edu	37	chr20	32848253	32848253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactgccaacagccacctgCcacctgaggagaagctccga	9	16	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:32848253C>T	uc002xah.1	+	1	83	c.73C>T	c.(73-75)CCA>TCA	p.P25S		NM_001672	NP_001663	P42127	ASIP_HUMAN	agouti signaling protein precursor	25					cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space				central_nervous_system(1)	1						CAGCCACCTGCCACCTGAGGA	0.562													T	32848253	C	T	32848253	3	4	27	1	0	0	0	0	1	0	0	0	1043	739	26	2	75	2	ASIP	20	32848253	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	188235	32848253	30177267	8072	32023											
ITCH	83737	broad.mit.edu	37	chr20	33026406	33026406	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagacctccaagaccttcaCgaccaccaccacccacccca	3	22	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:33026406C>T	uc010geu.1	+	9	964	c.772C>T	c.(772-774)CGA>TGA	p.R258*	ITCH_uc002xak.2_Nonsense_Mutation_p.R217*|ITCH_uc010zuj.1_Nonsense_Mutation_p.R107*	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	258	Arg/Pro-rich (PRR domain).				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6						AAGACCTTCACGACCACCACC	0.458													T	33026406	C	T	33026406	4	4	27	1	0	0	0	0	0	1	0	0	7868	528	19	1	671	1	ITCH	20	33026406	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	178153	33026406	29999114	8073	32024											
ITCH	83737	broad.mit.edu	37	chr20	33077191	33077191	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttgatgcaaaggaattagaGgtaatgaattttccttcatt	8	4	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:33077191G>C	uc010geu.1	+	22	2529	c.2337G>C	c.(2335-2337)GAG>GAC	p.E779D	ITCH_uc002xak.2_Missense_Mutation_p.E738D|ITCH_uc010zuj.1_Missense_Mutation_p.E628D	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	779	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6						AGGAATTAGAGGTAATGAATT	0.363													C	33077191	G	C	33077191	3	2	27	1	0	0	0	0	1	0	0	0	7868	1014	35	5	2288	5	ITCH	20	33077191	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	50785	33077191	29948329	8074	32025											
DYNLRB1	83658	broad.mit.edu	37	chr20	33122545	33122545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgacatcgacccccagaacGatctcaccttccttcgaatt	6	15	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:33122545G>A	uc002xal.2	+	3	253	c.193G>A	c.(193-195)GAT>AAT	p.D65N	DYNLRB1_uc010zuk.1_Missense_Mutation_p.D65N|DYNLRB1_uc002xam.2_RNA|DYNLRB1_uc002xan.2_RNA	NM_014183	NP_054902	Q9NP97	DLRB1_HUMAN	Roadblock-1	65					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity				0						CCCCCAGAACGATCTCACCTT	0.542													A	33122545	G	A	33122545	3	1	27	1	0	0	0	0	1	0	0	0	4850	1058	37	1	203	1	DYNLRB1	20	33122545	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	45354	33122545	29902975	8075	32026											
NCOA6	23054	broad.mit.edu	37	chr20	33328893	33328893	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctgtctggatgtttggagCaggactactggagagggcat	15	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:33328893C>G	uc002xav.2	-	12	7738	c.5167G>C	c.(5167-5169)GCT>CCT	p.A1723P	NCOA6_uc002xaw.2_Missense_Mutation_p.A1723P	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1723	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						ATGTTTGGAGCAGGACTACTG	0.517													G	33328893	C	G	33328893	3	3	27	1	0	0	0	0	1	0	0	0	10233	710	25	5	1044	5	NCOA6	20	33328893	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	206348	33328893	29696627	8076	32027											
ACSS2	55902	broad.mit.edu	37	chr20	33509131	33509131	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctcccattcccctgccccAggcatagccgggcatccttg	8	19	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:33509131A>G	uc002xbd.2	+	11	1399	c.1278_splice	c.e11-2	p.K426_splice	ACSS2_uc002xbc.2_Splice_Site_p.K331_splice|ACSS2_uc010zum.1_Intron|ACSS2_uc010gey.2_Splice_Site_p.K439_splice|ACSS2_uc002xbe.2_Splice_Site_p.K134_splice|ACSS2_uc002xbf.2_Intron	NM_018677	NP_061147	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2						ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding				0					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCCCTGCCCCAGGCATAGCCG	0.582													G	33509131	A	G	33509131	5	3	27	1	0	0	0	0	0	0	1	0	189	202	7	3	1361	3	ACSS2	20	33509131	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	180238	33509131	29516389	8077	32028											
ACSS2	55902	broad.mit.edu	37	chr20	33514025	33514025	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgcctctactgctttgTcaccttgtgtgatggccaca	9	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:33514025T>A	uc002xbd.2	+	16	1965	c.1844T>A	c.(1843-1845)GTC>GAC	p.V615D	ACSS2_uc002xbc.2_Missense_Mutation_p.V520D|ACSS2_uc010zum.1_RNA|ACSS2_uc010gey.2_Missense_Mutation_p.V628D|ACSS2_uc002xbe.2_Missense_Mutation_p.V323D|ACSS2_uc002xbf.2_Intron	NM_018677	NP_061147	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	615				V -> F (in Ref. 3; AAH12172).	ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding				0					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TACTGCTTTGTCACCTTGTGT	0.572													A	33514025	T	A	33514025	3	1	27	1	0	0	0	0	1	0	0	0	189	1667	58	5	1949	5	ACSS2	20	33514025	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4894	33514025	29511495	8078	32029											
GSS	2937	broad.mit.edu	37	chr20	33517328	33517328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccatgaggatgtaggaggCcctctcctcactgtccttca	9	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:33517328C>T	uc002xbg.2	-	12	1257	c.1177G>A	c.(1177-1179)GCC>ACC	p.A393T	GSS_uc010zun.1_Missense_Mutation_p.A265T|GSS_uc010zuo.1_Missense_Mutation_p.A282T|GSS_uc010zup.1_Missense_Mutation_p.A324T|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_Missense_Mutation_p.A123T	NM_000178	NP_000169	P48637	GSHB_HUMAN	glutathione synthetase	393					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	ATGTAGGAGGCCCTCTCCTCA	0.547													T	33517328	C	T	33517328	3	4	27	1	0	0	0	0	1	0	0	0	6829	739	26	2	255	2	GSS	20	33517328	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3303	33517328	29508192	8079	32030											
MYH7B	57644	broad.mit.edu	37	chr20	33581008	33581008	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggacttggatcacacccagTaccagtttggccacaccaag	9	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:33581008T>C	uc002xbi.1	+	23	2505	c.2413T>C	c.(2413-2415)TAC>CAC	p.Y805H		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	763	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCACACCCAGTACCAGTTTGG	0.607													C	33581008	T	C	33581008	3	2	27	1	0	0	0	0	1	0	0	0	10040	1638	57	3	2503	3	MYH7B	20	33581008	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	63680	33581008	29444512	8080	32031											
MYH7B	57644	broad.mit.edu	37	chr20	33582006	33582006	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaatgccgtcaagaactgGtcatggatgaagctcttttt	9	8	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:33582006G>A	uc002xbi.1	+	25	2720	c.2628G>A	c.(2626-2628)TGG>TGA	p.W876*		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	834						membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCAAGAACTGGTCATGGATGA	0.622													A	33582006	G	A	33582006	4	1	27	1	0	0	0	0	0	1	0	0	10040	1270	44	4	2726	4	MYH7B	20	33582006	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	998	33582006	29443514	8081	32032											
FAM83C	128876	broad.mit.edu	37	chr20	33879869	33879869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcacatggctggtcatgTagtccacatccagggcgctc	12	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:33879869T>C	uc010zux.1	-	1	357	c.239A>G	c.(238-240)TAC>TGC	p.Y80C	FAM83C_uc002xcb.1_5'UTR	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	80										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCTGGTCATGTAGTCCACATC	0.697													C	33879869	T	C	33879869	3	2	27	1	0	0	0	0	1	0	0	0	5635	1638	57	3	2020	3	FAM83C	20	33879869	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	297863	33879869	29145651	8082	32033											
UQCC	55245	broad.mit.edu	37	chr20	33981905	33981905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaatcttacctgggaagtgCgagacagagccctgtccccc	10	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:33981905C>T	uc002xcd.2	-	2	186	c.119G>A	c.(118-120)CGC>CAC	p.R40H	UQCC_uc010zuy.1_5'UTR|UQCC_uc010zuz.1_Intron|UQCC_uc010zva.1_Missense_Mutation_p.R40H|UQCC_uc002xce.2_Missense_Mutation_p.R40H|UQCC_uc002xcg.2_5'UTR|UQCC_uc010gfb.2_Missense_Mutation_p.R40H|UQCC_uc010zvb.1_Missense_Mutation_p.R40H|UQCC_uc002xcf.2_Silent_p.S20S|GDF5_uc010gfc.1_Intron|UQCC_uc002xci.1_5'UTR|UQCC_uc010gfd.1_Silent_p.S20S	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	basic FGF-repressed Zic binding protein isoform	40						cytoplasmic membrane-bounded vesicle				breast(1)	1			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTGGGAAGTGCGAGACAGAGC	0.433													T	33981905	C	T	33981905	3	4	27	1	0	0	0	0	1	0	0	0	17012	768	27	1	816	1	UQCC	20	33981905	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	102036	33981905	29043615	8083	32034											
GDF5	8200	broad.mit.edu	37	chr20	34022040	34022040	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccttaaggttcttgctgggTcgcttgccctggcgagtggc	15	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:34022040T>C	uc010gfc.1	-	2	1414	c.1173A>G	c.(1171-1173)CGA>CGG	p.R391R	uc002xcj.2_Missense_Mutation_p.S151P|GDF5_uc002xck.1_Silent_p.R391R|GDF5_uc010zvc.1_Silent_p.R391R	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	391					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TCTTGCTGGGTCGCTTGCCCT	0.602													C	34022040	T	C	34022040	2	2	27	1	0	0	0	0	0	0	0	1	6316	1654	58	3		3	GDF5	20	34022040	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	40135	34022040	29003480	8084	32035											
ERGIC3	51614	broad.mit.edu	37	chr20	34143804	34143804	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggatggtgttgtttacagAtcaacatgacccactacatc	8	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:34143804A>T	uc002xct.2	+	9	787	c.718A>T	c.(718-720)ATC>TTC	p.I240F	ERGIC3_uc010zvg.1_Missense_Mutation_p.I240F|ERGIC3_uc002xcs.2_Missense_Mutation_p.I245F|ERGIC3_uc002xcu.2_Missense_Mutation_p.I255F|ERGIC3_uc002xcv.2_Missense_Mutation_p.I203F	NM_015966	NP_057050	Q9Y282	ERGI3_HUMAN	serologically defined breast cancer antigen 84	240	Lumenal (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			large_intestine(2)|ovary(1)	3	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TTGTTTACAGATCAACATGAC	0.552													T	34143804	A	T	34143804	3	4	27	1	0	0	0	0	1	0	0	0	5225	347	12	5	771	5	ERGIC3	20	34143804	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	121764	34143804	28881716	8085	32036											
CPNE1	8904	broad.mit.edu	37	chr20	34220721	34220721	+	Missense_Mutation	SNP	G	G	A													ccataatccgcctcacctcaGcccagctgccccctcccaca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:34220721G>A	uc002xdf.2	-	4	488	c.125C>T	c.(124-126)GCT>GTT	p.A42V	CPNE1_uc002xdc.2_5'Flank|CPNE1_uc010zvj.1_Missense_Mutation_p.A47V|CPNE1_uc002xde.2_Missense_Mutation_p.A42V|CPNE1_uc002xdg.2_Missense_Mutation_p.A42V|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.A42V|CPNE1_uc002xdi.2_Missense_Mutation_p.A42V|CPNE1_uc002xdj.2_Missense_Mutation_p.A42V|CPNE1_uc002xdk.2_Missense_Mutation_p.A42V|CPNE1_uc002xdl.2_Missense_Mutation_p.A42V|CPNE1_uc002xdm.2_Missense_Mutation_p.A42V|CPNE1_uc010gfk.1_Missense_Mutation_p.A42V|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_RNA	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	42	C2 1.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTCACCTCAGCCCAGCTGCC	0.557													A	34220721	G	A	34220721	3	1	27	1	0	0	0	0	1	0	0	0	3811	971	34	2	1548	2	CPNE1	20	34220721	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	76917	34220721	28804799	8086	32037	107	2									
CPNE1	8904	broad.mit.edu	37	chr20	34220730	34220730	+	Frame_Shift_Del	DEL	C	C	-													gcctcacctcagcccagctgCcccctcccacatcctgtaaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:34220729_34220729GC>G	uc010zvj.2	-	1	499	c.132_132GC>C	c.(130-132)ggcfs	p.G44fs	CPNE1_uc002xde.3_Frame_Shift_Del_p.G39fs|CPNE1_uc002xdf.3_Frame_Shift_Del_p.G39fs|CPNE1_uc002xdi.3_Frame_Shift_Del_p.G39fs|CPNE1_uc002xdj.3_Frame_Shift_Del_p.G39fs|CPNE1_uc002xdl.3_Frame_Shift_Del_p.G39fs|CPNE1_uc002xdm.3_Frame_Shift_Del_p.G39fs|CPNE1_uc010gfk.2_Frame_Shift_Del_p.G39fs|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Non-coding_Transcript	NM_003915	NP_690905	Q99829	CPNE1_HUMAN	Homo sapiens copine I (CPNE1), transcript variant 3, mRNA.	39	C2 1.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CAGCCCAGCTGCCCCCTCCCA	0.547													-	34220730	C	-	34220730	7	5	27	1	0	1	0	1	0	0	0	0	3811	739	26	0	1557	0	CPNE1	20	34220730	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	9	34220730	28804790	8087	32038	107	2									
RBM12	10137	broad.mit.edu	37	chr20	34241387	34241387	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctctcatatcttctagggTaactacatgaacaaaagctt	5	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:34241387T>C	uc002xdq.2	-	3	2090	c.1858A>G	c.(1858-1860)ACC>GCC	p.T620A	CPNE1_uc010zvj.1_Intron|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.T620A|RBM12_uc002xds.2_Missense_Mutation_p.T620A	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	620						nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCTTCTAGGGTAACTACATGA	0.418													C	34241387	T	C	34241387	3	2	27	1	0	0	0	0	1	0	0	0	13113	1638	57	3	944	3	RBM12	20	34241387	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	20657	34241387	28784133	8088	32039											
RBM12	10137	broad.mit.edu	37	chr20	34242789	34242789	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgttcctacgctggcTgtggaaaatgtctgtatgtt	13	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:34242789T>C	uc002xdq.2	-	3	688	c.456A>G	c.(454-456)ACA>ACG	p.T152T	CPNE1_uc010zvj.1_5'Flank|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Silent_p.T152T|RBM12_uc002xds.2_Silent_p.T152T	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	152						nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CTACGCTGGCTGTGGAAAATG	0.468													C	34242789	T	C	34242789	2	2	27	1	0	0	0	0	0	0	0	1	13113	1567	55	3		3	RBM12	20	34242789	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1402	34242789	28782731	8089	32040											
EPB41L1	2036	broad.mit.edu	37	chr20	34770226	34770226	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttgccttcacagtcaagTtctacccgcctgatcctgcc	6	15	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:34770226T>G	uc002xfb.2	+	6	694	c.523T>G	c.(523-525)TTC>GTC	p.F175V	EPB41L1_uc002xeu.2_Missense_Mutation_p.F113V|EPB41L1_uc010zvo.1_Missense_Mutation_p.F175V|EPB41L1_uc002xev.2_Missense_Mutation_p.F175V|EPB41L1_uc002xew.2_Missense_Mutation_p.F78V|EPB41L1_uc002xex.2_Missense_Mutation_p.F144V|EPB41L1_uc002xey.2_Missense_Mutation_p.F175V|EPB41L1_uc002xez.2_Missense_Mutation_p.F113V	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	175	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					CACAGTCAAGTTCTACCCGCC	0.577													G	34770226	T	G	34770226	3	3	27	1	0	0	0	0	1	0	0	0	5152	1725	60	5	541	5	EPB41L1	20	34770226	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	527437	34770226	28255294	8090	32041											
DLGAP4	22839	broad.mit.edu	37	chr20	35071143	35071143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcagatttttggacaggCctccctgatcccccagttgt	9	14	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:35071143C>T	uc002xff.2	+	6	1805	c.1370C>T	c.(1369-1371)GCC>GTC	p.A457V	DLGAP4_uc010zvp.1_Missense_Mutation_p.A457V	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	457					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TTTGGACAGGCCTCCCTGATC	0.532													T	35071143	C	T	35071143	3	4	27	1	0	0	0	0	1	0	0	0	4562	739	26	2	1384	2	DLGAP4	20	35071143	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	300917	35071143	27954377	8091	32042											
DLGAP4	22839	broad.mit.edu	37	chr20	35125394	35125394	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgcagctctgaaaagtgaAcaagggacgctgaccagctc	11	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:35125394A>G	uc002xff.2	+	8	2370	c.1935A>G	c.(1933-1935)GAA>GAG	p.E645E	DLGAP4_uc010zvp.1_Silent_p.E645E|DLGAP4_uc002xfg.2_5'UTR|DLGAP4_uc002xfh.2_Silent_p.E106E|DLGAP4_uc002xfi.2_5'UTR|DLGAP4_uc002xfj.2_5'Flank	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	645					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TGAAAAGTGAACAAGGGACGC	0.607													G	35125394	A	G	35125394	2	3	27	1	0	0	0	0	0	0	0	1	4562	40	2	3		3	DLGAP4	20	35125394	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	54251	35125394	27900126	8092	32043											
VSTM2L	128434	broad.mit.edu	37	chr20	36572479	36572479	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgagtgccgcgtcatcgacTtcagcgacggcaaggcccgg	14	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:36572479T>C	uc002xhk.3	+	4	693	c.439T>C	c.(439-441)TTC>CTC	p.F147L		NM_080607	NP_542174	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	147	Ig-like.									ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.00878)				CGTCATCGACTTCAGCGACGG	0.632													C	36572479	T	C	36572479	3	2	27	1	0	0	0	0	1	0	0	0	17227	1609	56	3	453	3	VSTM2L	20	36572479	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1447085	36572479	26453041	8093	32044											
KIAA0406	9675	broad.mit.edu	37	chr20	36641206	36641206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactctcatcatttactagtCccactaaggccttcagaagg	7	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:36641206C>T	uc002xhl.2	-	3	1222	c.1013G>A	c.(1012-1014)GGA>GAA	p.G338E	KIAA0406_uc002xhm.2_Missense_Mutation_p.G338E	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	338							binding				0		Myeloproliferative disorder(115;0.00874)				ATTTACTAGTCCCACTAAGGC	0.463													T	36641206	C	T	36641206	3	4	27	1	0	0	0	0	1	0	0	0	8173	855	30	4	2284	4	KIAA0406	20	36641206	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	68727	36641206	26384314	8094	32045											
TGM2	7052	broad.mit.edu	37	chr20	36767989	36767989	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgcaaagacaaagggcgcAtcgtacttggtgctcaggtc	12	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:36767989A>G	uc002xhr.2	-	9	1267	c.1167T>C	c.(1165-1167)GAT>GAC	p.D389D	TGM2_uc010zvx.1_Silent_p.D308D|TGM2_uc010zvy.1_Silent_p.D329D|TGM2_uc002xhs.1_Silent_p.D365D|TGM2_uc002xht.2_Silent_p.D389D	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	389					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CAAAGGGCGCATCGTACTTGG	0.577													G	36767989	A	G	36767989	2	3	27	1	0	0	0	0	0	0	0	1	15827	214	8	3		3	TGM2	20	36767989	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	126783	36767989	26257531	8095	32046											
KIAA1755	85449	broad.mit.edu	37	chr20	36869061	36869061	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccagggcccattgtgctggAgtgaggctttctccggggtc	15	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:36869061A>T	uc002xhy.1	-	3	1744	c.1472T>A	c.(1471-1473)CTC>CAC	p.L491H	KIAA1755_uc002xhz.1_Missense_Mutation_p.L491H	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	491										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)				ATTGTGCTGGAGTGAGGCTTT	0.557													T	36869061	A	T	36869061	3	4	27	1	0	0	0	0	1	0	0	0	8257	304	11	5	2178	5	KIAA1755	20	36869061	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	101072	36869061	26156459	8096	32047											
SLC32A1	140679	broad.mit.edu	37	chr20	37356555	37356555	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatatcctggtcatagcctActgtctatcgcgggcgcgcg	11	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:37356555A>G	uc002xjc.2	+	2	1114	c.851A>G	c.(850-852)TAC>TGC	p.Y284C		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	284	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GTCATAGCCTACTGTCTATCG	0.547													G	37356555	A	G	37356555	3	3	27	1	0	0	0	0	1	0	0	0	14565	391	14	3	857	3	SLC32A1	20	37356555	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	487494	37356555	25668965	8097	32048											
SLC32A1	140679	broad.mit.edu	37	chr20	37356738	37356738	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgatgaactggacgcacaTcgcagcctgcgtgctcaagg	12	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:37356738T>C	uc002xjc.2	+	2	1297	c.1034T>C	c.(1033-1035)ATC>ACC	p.I345T		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	345	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGGACGCACATCGCAGCCTGC	0.597													C	37356738	T	C	37356738	3	2	27	1	0	0	0	0	1	0	0	0	14565	1435	50	3	1040	3	SLC32A1	20	37356738	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	183	37356738	25668782	8098	32049											
SLC32A1	140679	broad.mit.edu	37	chr20	37356973	37356973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttcccggcctgctacagCggcgacgggcgcctgaagtc	13	14	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:37356973C>T	uc002xjc.2	+	2	1532	c.1269C>T	c.(1267-1269)AGC>AGT	p.S423S		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	423	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CCTGCTACAGCGGCGACGGGC	0.637													T	37356973	C	T	37356973	2	4	27	1	0	0	0	0	0	0	0	1	14565	767	27	1		1	SLC32A1	20	37356973	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	235	37356973	25668547	8099	32050											
TOP1	7150	broad.mit.edu	37	chr20	39690105	39690105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacacaagaaggagaaggacCgggaaaagtccaagcatagc	12	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:39690105C>T	uc002xjl.2	+	3	376	c.130C>T	c.(130-132)CGG>TGG	p.R44W	TOP1_uc010gge.1_Intron	NM_003286	NP_003277	P11387	TOP1_HUMAN	DNA topoisomerase I	44	Lys-rich.				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	GGAGAAGGACCGGGAAAAGTC	0.423			T	NUP98	AML*								T	39690105	C	T	39690105	3	4	27	1	0	0	0	0	1	0	0	0	16360	643	23	1	140	1	TOP1	20	39690105	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2333132	39690105	23335415	8100	32051											
PLCG1	5335	broad.mit.edu	37	chr20	39792036	39792036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggagctgtgggctgttgatCgcctccaggtgcaggagttc	16	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:39792036C>T	uc002xjp.1	+	9	929	c.808C>T	c.(808-810)CGC>TGC	p.R270C	PLCG1_uc002xjo.1_Missense_Mutation_p.R270C|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.2_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	270					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				GGCTGTTGATCGCCTCCAGGT	0.602													T	39792036	C	T	39792036	3	4	27	1	0	0	0	0	1	0	0	0	12035	884	31	1	842	1	PLCG1	20	39792036	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	101931	39792036	23233484	8101	32052											
PLCG1	5335	broad.mit.edu	37	chr20	39798806	39798806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcttctccatcagcatggCgtcggtggcccactggtccc	11	16	3	0	rs140033921		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:39798806C>T	uc002xjp.1	+	24	2826	c.2705C>T	c.(2704-2706)GCG>GTG	p.A902V	PLCG1_uc002xjo.1_Missense_Mutation_p.A902V|PLCG1_uc010zwe.1_Missense_Mutation_p.A528V|PLCG1_uc010ggf.2_Missense_Mutation_p.A226V	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	902	PH 2; second part.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				ATCAGCATGGCGTCGGTGGCC	0.597													T	39798806	C	T	39798806	3	4	27	1	0	0	0	0	1	0	0	0	12035	768	27	1	2799	1	PLCG1	20	39798806	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6770	39798806	23226714	8102	32053											
ZHX3	23051	broad.mit.edu	37	chr20	39831411	39831411	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gactttgcgctctgccaagaTatggctgctgggcatttcca	11	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:39831411T>A	uc002xjs.1	-	3	2524	c.2146A>T	c.(2146-2148)ATC>TTC	p.I716F	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.I716F|ZHX3_uc002xjt.1_Missense_Mutation_p.I716F|ZHX3_uc002xju.1_Missense_Mutation_p.I716F|ZHX3_uc002xjv.1_Missense_Mutation_p.I716F|ZHX3_uc002xjw.1_Missense_Mutation_p.I716F|ZHX3_uc010ggg.1_Missense_Mutation_p.I716F	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	716					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				TCTGCCAAGATATGGCTGCTG	0.542													A	39831411	T	A	39831411	3	1	27	1	0	0	0	0	1	0	0	0	17674	1406	49	5	732	5	ZHX3	20	39831411	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	32605	39831411	23194109	8103	32054											
ZHX3	23051	broad.mit.edu	37	chr20	39832356	39832356	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgagatgctggacatTgccagcactggcgacgagtg	15	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:39832356T>C	uc002xjs.1	-	3	1579	c.1201A>G	c.(1201-1203)AAT>GAT	p.N401D	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.N401D|ZHX3_uc002xjt.1_Missense_Mutation_p.N401D|ZHX3_uc002xju.1_Missense_Mutation_p.N401D|ZHX3_uc002xjv.1_Missense_Mutation_p.N401D|ZHX3_uc002xjw.1_Missense_Mutation_p.N401D|ZHX3_uc010ggg.1_Missense_Mutation_p.N401D	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	401	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				TGCTGGACATTGCCAGCACTG	0.547													C	39832356	T	C	39832356	3	2	27	1	0	0	0	0	1	0	0	0	17674	1812	63	3	1677	3	ZHX3	20	39832356	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	945	39832356	23193164	8104	32055											
LPIN3	64900	broad.mit.edu	37	chr20	39987087	39987087	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcccacaggatgtcttTgcctaccggcaggtgggcct	12	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:39987087T>C	uc002xjx.2	+	19	2407	c.2316T>C	c.(2314-2316)TTT>TTC	p.F772F	LPIN3_uc010ggh.2_Silent_p.F773F|LPIN3_uc010zwf.1_RNA	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	lipin 3	772	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.000739)				AGGATGTCTTTGCCTACCGGC	0.602													C	39987087	T	C	39987087	2	2	27	1	0	0	0	0	0	0	0	1	8920	1809	63	3		3	LPIN3	20	39987087	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	154731	39987087	23038433	8105	32056											
CHD6	84181	broad.mit.edu	37	chr20	40033839	40033839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatgggcagcatgctcagGgtacttttgacctcttcacc	9	12	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:40033839G>A	uc002xka.1	-	37	7720	c.7542C>T	c.(7540-7542)ACC>ACT	p.T2514T	CHD6_uc002xjz.1_Silent_p.T51T	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2514					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				GCATGCTCAGGGTACTTTTGA	0.572													A	40033839	G	A	40033839	2	1	27	1	0	0	0	0	0	0	0	1	3329	1219	43	4		4	CHD6	20	40033839	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	46752	40033839	22991681	8106	32057											
CHD6	84181	broad.mit.edu	37	chr20	40049561	40049561	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcttggaagccttggTtcttttcccttgagatgtta	8	8	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:40049561T>C	uc002xka.1	-	31	5892	c.5714A>G	c.(5713-5715)AAC>AGC	p.N1905S		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1905					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				GAAGCCTTGGTTCTTTTCCCT	0.488													C	40049561	T	C	40049561	3	2	27	1	0	0	0	0	1	0	0	0	3329	1725	60	3	2461	3	CHD6	20	40049561	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	15722	40049561	22975959	8107	32058											
CHD6	84181	broad.mit.edu	37	chr20	40085990	40085990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccttgtcaaacatctcgcGctcgtaggaatttcgagtga	11	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:40085990G>A	uc002xka.1	-	18	2921	c.2743C>T	c.(2743-2745)CGC>TGC	p.R915C	CHD6_uc002xkd.2_Missense_Mutation_p.R893C	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	915	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				AACATCTCGCGCTCGTAGGAA	0.547													A	40085990	G	A	40085990	3	1	27	1	0	0	0	0	1	0	0	0	3329	1087	38	1	5484	1	CHD6	20	40085990	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	36429	40085990	22939530	8108	32059											
PTPRT	11122	broad.mit.edu	37	chr20	40713431	40713431	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaggggggcgtgtcccggtAggcaggccagccaatgtact	18	10	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:40713431A>T	uc002xkg.2	-	29	4211	c.4027T>A	c.(4027-4029)TAC>AAC	p.Y1343N	PTPRT_uc010ggj.2_Missense_Mutation_p.Y1362N|PTPRT_uc010ggi.2_Missense_Mutation_p.Y546N	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1343	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)				GTGTCCCGGTAGGCAGGCCAG	0.592													T	40713431	A	T	40713431	3	4	27	1	0	0	0	0	1	0	0	0	12812	420	15	5	310	5	PTPRT	20	40713431	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	627441	40713431	22312089	8109	32060											
PTPRT	11122	broad.mit.edu	37	chr20	40864873	40864873	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcgatacttacaagtAataggagtaggaataagcat	9	7	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:40864873A>G	uc002xkg.2	-	15	2522	c.2338T>C	c.(2338-2340)TAC>CAC	p.Y780H	PTPRT_uc010ggj.2_Missense_Mutation_p.Y799H	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	780	Cytoplasmic (Potential).				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)				ACTTACAAGTAATAGGAGTAG	0.393													G	40864873	A	G	40864873	3	3	27	1	0	0	0	0	1	0	0	0	12812	362	13	3	2055	3	PTPRT	20	40864873	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	151442	40864873	22160647	8110	32061											
L3MBTL	26013	broad.mit.edu	37	chr20	42162001	42162001	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgatcccagcagccccTacatccacccagtgggctgg	12	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:42162001T>C	uc010zwh.1	+	13	1436	c.1390T>C	c.(1390-1392)TAC>CAC	p.Y464H	L3MBTL_uc002xkl.2_Missense_Mutation_p.Y396H|L3MBTL_uc002xkm.2_Missense_Mutation_p.Y396H|L3MBTL_uc010ggl.2_Missense_Mutation_p.Y396H|L3MBTL_uc002xkn.1_Missense_Mutation_p.Y155H|L3MBTL_uc002xko.2_Missense_Mutation_p.Y48H	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	396	MBT 2.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGCAGCCCCTACATCCACCC	0.587													C	42162001	T	C	42162001	3	2	27	1	0	0	0	0	1	0	0	0	8591	1522	53	3	1224	3	L3MBTL	20	42162001	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1297128	42162001	20863519	8111	32062											
IFT52	51098	broad.mit.edu	37	chr20	42232531	42232531	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaatcatggttaataatggTaattagtattattattttca	7	2	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:42232531T>C	uc002xkw.2	+	4	459	c.337_splice	c.e4+2	p.D113_splice	IFT52_uc010zwi.1_Intron|IFT52_uc002xky.2_Splice_Site_p.D113_splice|IFT52_uc002xkx.2_Splice_Site|IFT52_uc010ggn.2_Splice_Site_p.D113_splice|IFT52_uc002xkz.2_Splice_Site_p.D113_splice	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog							intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			ovary(2)	2		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TTAATAATGGTAATTAGTATT	0.358													C	42232531	T	C	42232531	5	2	27	1	0	0	0	0	0	0	1	0	7561	1652	57	3	349	3	IFT52	20	42232531	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	70530	42232531	20792989	8112	32063											
IFT52	51098	broad.mit.edu	37	chr20	42265849	42265849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctatttgatttagatgaaaCgttctcctctgagaaggcac	9	8	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:42265849C>T	uc002xkw.2	+	12	1198	c.1076C>T	c.(1075-1077)ACG>ATG	p.T359M	IFT52_uc002xky.2_Missense_Mutation_p.T359M|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Missense_Mutation_p.T335M|IFT52_uc002xkz.2_Missense_Mutation_p.T359M	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog	359						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			ovary(2)	2		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TTAGATGAAACGTTCTCCTCT	0.343													T	42265849	C	T	42265849	3	4	27	1	0	0	0	0	1	0	0	0	7561	536	19	1	1118	1	IFT52	20	42265849	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	33318	42265849	20759671	8113	32064											
JPH2	57158	broad.mit.edu	37	chr20	42744457	42744457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcttgggctccagcttggCgggggtctcgcgtgcaggct	19	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:42744457C>T	uc002xli.1	-	4	2731	c.1858G>A	c.(1858-1860)GCC>ACC	p.A620T		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	620	Pro-rich.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCCAGCTTGGCGGGGGTCTCG	0.736													T	42744457	C	T	42744457	3	4	27	1	0	0	0	0	1	0	0	0	7961	768	27	1	240	1	JPH2	20	42744457	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	478608	42744457	20281063	8114	32065											
YWHAB	7529	broad.mit.edu	37	chr20	43530375	43530375	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcgtgtcatctccagcatTgagcagaaaacagagaggaa	12	8	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:43530375T>C	uc002xmt.2	+	3	483	c.201T>C	c.(199-201)ATT>ATC	p.I67I	YWHAB_uc002xmu.2_Silent_p.I67I	NM_003404	NP_003395	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan	67					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			kidney(2)|ovary(1)|breast(1)	4		Myeloproliferative disorder(115;0.0122)				TCTCCAGCATTGAGCAGAAAA	0.512													C	43530375	T	C	43530375	2	2	27	1	0	0	0	0	0	0	0	1	17498	1800	63	3		3	YWHAB	20	43530375	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	785918	43530375	19495145	8115	32066											
TOMM34	10953	broad.mit.edu	37	chr20	43583713	43583713	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggaatggagctcacctgtTgatgccttctacggctgacg	13	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:43583713T>C	uc002xmy.2	-	3	516	c.376A>G	c.(376-378)AAC>GAC	p.N126D	PABPC1L_uc002xmx.2_Intron|TOMM34_uc002xmz.2_RNA	NM_006809	NP_006800	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	126				N -> S (in Ref. 5; BAD96672).	protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding				0		Myeloproliferative disorder(115;0.0122)				GCTCACCTGTTGATGCCTTCT	0.522													C	43583713	T	C	43583713	3	2	27	1	0	0	0	0	1	0	0	0	16354	1812	63	3	573	3	TOMM34	20	43583713	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	53338	43583713	19441807	8116	32067											
WFDC5	149708	broad.mit.edu	37	chr20	43739138	43739138	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacacaggtggttcatgggGctgaggcagcgcagttggtc	17	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:43739138G>A	uc002xne.1	-	3	349	c.270C>T	c.(268-270)AGC>AGT	p.S90S		NM_145652	NP_663627	Q8TCV5	WFDC5_HUMAN	WAP four-disulfide core domain 5 precursor	90	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GGTTCATGGGGCTGAGGCAGC	0.632													A	43739138	G	A	43739138	2	1	27	1	0	0	0	0	0	0	0	1	17351	1194	42	2		2	WFDC5	20	43739138	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	155425	43739138	19286382	8117	32068											
SEMG2	6407	broad.mit.edu	37	chr20	43850767	43850767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttcaaacacagaaaaaaGgctatgggttcatggactaa	9	6	2	1	rs138521593		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:43850767G>A	uc010ggz.2	+	2	551	c.494G>A	c.(493-495)AGG>AAG	p.R165K	SEMG2_uc002xnk.2_Missense_Mutation_p.R165K|SEMG2_uc002xnl.2_Missense_Mutation_p.R165K	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	165	Repeat-rich region.|2-1.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	p.R165K(1)		skin(1)	1		Myeloproliferative disorder(115;0.0122)				ACAGAAAAAAGGCTATGGGTT	0.443													A	43850767	G	A	43850767	3	1	27	1	0	0	0	0	1	0	0	0	14045	1000	35	4	500	4	SEMG2	20	43850767	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	111629	43850767	19174753	8118	32069											
SPINLW1	57119	broad.mit.edu	37	chr20	44166681	44166681	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcaatctctgggtttggtAcactggtctatttcttccac	10	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:44166681A>G	uc010zxc.1	-	4	476	c.444T>C	c.(442-444)TGT>TGC	p.C148C	WFDC6_uc002xos.1_Silent_p.C48C	NM_020398	NP_065131	O95925	EPPI_HUMAN	serine peptidase inhibitor-like, with Kunitz and	48	WAP.					extracellular region	serine-type endopeptidase inhibitor activity			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)				TGGGTTTGGTACACTGGTCTA	0.453													G	44166681	A	G	44166681	2	3	27	1	0	0	0	0	0	0	0	1	15066	389	14	3		3	SPINLW1	20	44166681	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	315914	44166681	18858839	8119	32070											
DNTTIP1	116092	broad.mit.edu	37	chr20	44430046	44430046	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccttttcttttagcgtggCcgtcaggcagaagaagaatg	11	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:44430046C>T	uc002xpk.2	+	6	515	c.447C>T	c.(445-447)GGC>GGT	p.G149G		NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	terminal deoxynucleotidyltransferase interacting	149						nucleus				ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.0122)				TTTAGCGTGGCCGTCAGGCAG	0.507													T	44430046	C	T	44430046	2	4	27	1	0	0	0	0	0	0	0	1	4681	726	26	2		2	DNTTIP1	20	44430046	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	263365	44430046	18595474	8120	32071											
SNX21	90203	broad.mit.edu	37	chr20	44469372	44469372	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgagcggctgcaccgaaAcctgcagcggcaattccggg	13	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:44469372A>C	uc002xpv.1	+	4	631	c.542A>C	c.(541-543)AAC>ACC	p.N181T	SNX21_uc002xps.1_Missense_Mutation_p.N181T|SNX21_uc002xpt.1_3'UTR|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_5'UTR|SNX21_uc002xpx.2_Missense_Mutation_p.N171T|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_5'UTR|SNX21_uc002xpz.1_5'UTR	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	sorting nexin 21 isoform a	181	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				CTGCACCGAAACCTGCAGCGG	0.642													C	44469372	A	C	44469372	3	2	27	1	0	0	0	0	1	0	0	0	14893	43	2	5	571	5	SNX21	20	44469372	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	39326	44469372	18556148	8121	32072											
ZSWIM3	140831	broad.mit.edu	37	chr20	44505771	44505771	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagggttccatggcttccTtcagtgtgggtgacagccag	14	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:44505771T>C	uc002xqd.2	+	2	777	c.574T>C	c.(574-576)TTC>CTC	p.F192L	ZSWIM3_uc010zxg.1_Missense_Mutation_p.F186L	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	192							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				CATGGCTTCCTTCAGTGTGGG	0.522													C	44505771	T	C	44505771	3	2	27	1	0	0	0	0	1	0	0	0	18239	1609	56	3	580	3	ZSWIM3	20	44505771	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	36399	44505771	18519749	8122	32073											
ZSWIM3	140831	broad.mit.edu	37	chr20	44506225	44506225	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggaggccgtgtttgtcacttCtgaagccagcctgaaaaatc	11	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:44506225C>A	uc002xqd.2	+	2	1231	c.1028C>A	c.(1027-1029)TCT>TAT	p.S343Y	ZSWIM3_uc010zxg.1_Missense_Mutation_p.S337Y	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	343							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				TTTGTCACTTCTGAAGCCAGC	0.517													A	44506225	C	A	44506225	3	1	27	1	0	0	0	0	1	0	0	0	18239	913	32	5	1034	5	ZSWIM3	20	44506225	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	454	44506225	18519295	8123	32074											
PLTP	5360	broad.mit.edu	37	chr20	44538650	44538650	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgatttgaagcatcagcTcctgctgtggctggaaatcg	13	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:44538650T>C	uc002xqn.1	-	4	340	c.260A>G	c.(259-261)GAG>GGG	p.E87G	PLTP_uc002xql.1_5'UTR|PLTP_uc002xqm.1_Missense_Mutation_p.E107G|PLTP_uc002xqo.1_Missense_Mutation_p.E87G|PLTP_uc002xqp.1_Missense_Mutation_p.E87G|PLTP_uc002xqq.1_Missense_Mutation_p.E56G|PLTP_uc010zxj.1_Intron|PLTP_uc010ghj.1_Missense_Mutation_p.E87G	NM_006227	NP_006218	P55058	PLTP_HUMAN	phospholipid transfer protein isoform a	87					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				AAGCATCAGCTCCTGCTGTGG	0.577													C	44538650	T	C	44538650	3	2	27	1	0	0	0	0	1	0	0	0	12114	1551	54	3	1273	3	PLTP	20	44538650	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	32425	44538650	18486870	8124	32075											
ZNF335	63925	broad.mit.edu	37	chr20	44596981	44596981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggccccgccatcctcagCactggtcacagtgatgcagt	10	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:44596981C>T	uc002xqw.2	-	4	586	c.463G>A	c.(463-465)GCT>ACT	p.A155T	ZNF335_uc010zxk.1_Intron|ZNF335_uc002xqx.1_Missense_Mutation_p.A123T|ZNF335_uc002xqy.2_5'UTR	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				CCATCCTCAGCACTGGTCACA	0.647													T	44596981	C	T	44596981	3	4	27	1	0	0	0	0	1	0	0	0	17849	710	25	2	3665	2	ZNF335	20	44596981	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	58331	44596981	18428539	8125	32076											
MMP9	4318	broad.mit.edu	37	chr20	44640886	44640886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagggccgcggagatgggCgcctctggtgcgctaccacc	17	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:44640886C>T	uc002xqz.2	+	7	1127	c.1108C>T	c.(1108-1110)CGC>TGC	p.R370C		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	370	Fibronectin type-II 3.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CGGAGATGGGCGCCTCTGGTG	0.657													T	44640886	C	T	44640886	3	4	27	1	0	0	0	0	1	0	0	0	9669	768	27	1	1134	1	MMP9	20	44640886	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	43905	44640886	18384634	8126	32077											
NCOA5	57727	broad.mit.edu	37	chr20	44691317	44691317	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgtttccggcagcaacCgagggggatgcagagctgct	18	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:44691317C>T	uc002xrd.2	-	7	1890	c.1362G>A	c.(1360-1362)TCG>TCA	p.S454S	NCOA5_uc002xrc.2_3'UTR|NCOA5_uc002xre.2_Silent_p.S454S	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)				CGGCAGCAACCGAGGGGGATG	0.542													T	44691317	C	T	44691317	2	4	27	1	0	0	0	0	0	0	0	1	10232	639	23	1		1	NCOA5	20	44691317	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	50431	44691317	18334203	8127	32078											
CDH22	64405	broad.mit.edu	37	chr20	44869870	44869870	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtgtacttgatggccccGtcaccctcgtctgagtcgga	12	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:44869870G>A	uc002xrm.2	-	2	683	c.282C>T	c.(280-282)GAC>GAT	p.D94D	CDH22_uc010ghk.1_Silent_p.D94D	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	94	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				TGATGGCCCCGTCACCCTCGT	0.592													A	44869870	G	A	44869870	2	1	27	1	0	0	0	0	0	0	0	1	3107	1136	40	1		1	CDH22	20	44869870	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	178553	44869870	18155650	8128	32079											
SLC35C2	51006	broad.mit.edu	37	chr20	44983738	44983738	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccttctgcaggagcatcTgggtgagggtccagcgaatg	15	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:44983738T>C	uc002xro.2	-	6	1092	c.551A>G	c.(550-552)CAG>CGG	p.Q184R	SLC35C2_uc002xrp.2_Missense_Mutation_p.Q163R|SLC35C2_uc002xrq.2_Missense_Mutation_p.Q184R|SLC35C2_uc002xrr.2_Missense_Mutation_p.Q184R|SLC35C2_uc010zxn.1_Missense_Mutation_p.Q49R|SLC35C2_uc010zxo.1_Missense_Mutation_p.Q70R|SLC35C2_uc010zxp.1_Missense_Mutation_p.Q213R	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	solute carrier family 35, member C2 isoform a	184					transport	integral to membrane				ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CAGGAGCATCTGGGTGAGGGT	0.627													C	44983738	T	C	44983738	3	2	27	1	0	0	0	0	1	0	0	0	14580	1580	55	3	566	3	SLC35C2	20	44983738	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	113868	44983738	18041782	8129	32080											
ELMO2	63916	broad.mit.edu	37	chr20	44996115	44996115	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttcatctccatgctcaGcagggtgtccaggtcactct	9	14	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:44996115G>A	uc002xrt.1	-	22	2257	c.2047C>T	c.(2047-2049)CTG>TTG	p.L683L	ELMO2_uc010zxq.1_Silent_p.L415L|ELMO2_uc002xrs.1_Silent_p.L430L|ELMO2_uc002xru.1_Silent_p.L683L|ELMO2_uc010zxr.1_Silent_p.L695L|ELMO2_uc010zxs.1_Silent_p.L500L	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	683					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				TCCATGCTCAGCAGGGTGTCC	0.577													A	44996115	G	A	44996115	2	1	27	1	0	0	0	0	0	0	0	1	5066	962	34	2		2	ELMO2	20	44996115	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	12377	44996115	18029405	8130	32081											
ELMO2	63916	broad.mit.edu	37	chr20	44999996	44999996	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagaaatgaacctacttttcTcctgcagggattcaaatgtc	8	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:44999996T>A	uc002xrt.1	-	19	2006	c.1796A>T	c.(1795-1797)GAG>GTG	p.E599V	ELMO2_uc010zxq.1_Missense_Mutation_p.E331V|ELMO2_uc002xrs.1_Missense_Mutation_p.E346V|ELMO2_uc002xru.1_Missense_Mutation_p.E599V|ELMO2_uc010zxr.1_Missense_Mutation_p.E611V|ELMO2_uc010zxs.1_Missense_Mutation_p.E416V|ELMO2_uc002xrv.1_Missense_Mutation_p.E318V	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	599	PH.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CCTACTTTTCTCCTGCAGGGA	0.343													A	44999996	T	A	44999996	3	1	27	1	0	0	0	0	1	0	0	0	5066	1551	54	5	382	5	ELMO2	20	44999996	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3881	44999996	18025524	8131	32082											
ZNF334	55713	broad.mit.edu	37	chr20	45129985	45129985	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtttgatttgtggcgaaAtgttttctcacatttgttac	8	5	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:45129985A>G	uc002xsc.2	-	5	2177	c.1993T>C	c.(1993-1995)TTT>CTT	p.F665L	ZNF334_uc002xsa.2_Missense_Mutation_p.F688L|ZNF334_uc002xsb.2_Missense_Mutation_p.F627L|ZNF334_uc002xsd.2_Missense_Mutation_p.F627L|ZNF334_uc010ghl.2_Missense_Mutation_p.F664L	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	665	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				TTGTGGCGAAATGTTTTCTCA	0.358													G	45129985	A	G	45129985	3	3	27	1	0	0	0	0	1	0	0	0	17848	101	4	3	53	3	ZNF334	20	45129985	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	129989	45129985	17895535	8132	32083											
ZNF334	55713	broad.mit.edu	37	chr20	45130769	45130769	+	Frame_Shift_Del	DEL	T	T	-													cattcactacattcatagggTttttcccctgtgtgaattct					rs141823361	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:45130768_45130768GT>G	uc002xsa.3	-	3	1741	c.1279_1279AC>C	c.(1279-1281)cccfs	p.P427fs	ZNF334_uc002xsb.3_Frame_Shift_Del_p.P366fs|ZNF334_uc002xsd.3_Frame_Shift_Del_p.P366fs|ZNF334_uc002xsc.3_Frame_Shift_Del_p.P404fs|ZNF334_uc010ghl.3_Frame_Shift_Del_p.P403fs			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CATTCATAGGGTTTTTCCCCT	0.438													-	45130769	T	-	45130769	7	5	27	1	0	1	0	1	0	0	0	0	17848	1722	60	0	837	0	ZNF334	20	45130769	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	784	45130769	17894751	8133	32084											
ZNF334	55713	broad.mit.edu	37	chr20	45130828	45130828	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactgacagaagaaggtttTcccacattccttacattcat	6	10	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:45130828T>C	uc002xsc.2	-	5	1334	c.1150A>G	c.(1150-1152)AAA>GAA	p.K384E	ZNF334_uc002xsa.2_Missense_Mutation_p.K407E|ZNF334_uc002xsb.2_Missense_Mutation_p.K346E|ZNF334_uc002xsd.2_Missense_Mutation_p.K346E|ZNF334_uc010ghl.2_Missense_Mutation_p.K383E	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	384	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				AAGAAGGTTTTCCCACATTCC	0.413													C	45130828	T	C	45130828	3	2	27	1	0	0	0	0	1	0	0	0	17848	1792	62	3	896	3	ZNF334	20	45130828	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	59	45130828	17894692	8134	32085											
SLC13A3	64849	broad.mit.edu	37	chr20	45239247	45239247	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccatcatccccaggatgaGcctgcagagcagatggcatt	10	13	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:45239247G>T	uc002xsf.1	-	3	417	c.379C>A	c.(379-381)CTC>ATC	p.L127I	SLC13A3_uc010ghn.1_Missense_Mutation_p.L96I|SLC13A3_uc010zxw.1_Missense_Mutation_p.L127I|SLC13A3_uc002xsg.1_Missense_Mutation_p.L80I|SLC13A3_uc010gho.1_Missense_Mutation_p.L80I|SLC13A3_uc010zxx.1_Missense_Mutation_p.L29I|SLC13A3_uc002xsi.3_Missense_Mutation_p.L80I	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	127	Extracellular (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CCCAGGATGAGCCTGCAGAGC	0.517													T	45239247	G	T	45239247	3	4	27	1	0	0	0	0	1	0	0	0	14393	985	34	5	1473	5	SLC13A3	20	45239247	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	108419	45239247	17786273	8135	32086											
SLC2A10	81031	broad.mit.edu	37	chr20	45354435	45354435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccaacgtgctgtgctatGcctccaccatcttcagctcc	7	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:45354435G>A	uc002xsl.2	+	2	857	c.760G>A	c.(760-762)GCC>ACC	p.A254T		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	254	Helical; Name=7; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GCTGTGCTATGCCTCCACCAT	0.632													A	45354435	G	A	45354435	3	1	27	1	0	0	0	0	1	0	0	0	14539	1319	46	2	766	2	SLC2A10	20	45354435	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	115188	45354435	17671085	8136	32087											
NCOA3	8202	broad.mit.edu	37	chr20	46281156	46281156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttatttttgtaaggaatggGacaacaaccagatccagcct	8	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:46281156G>A	uc002xtk.2	+	21	4158	c.3953G>A	c.(3952-3954)GGA>GAA	p.G1318E	NCOA3_uc002xtl.2_Missense_Mutation_p.G1314E|NCOA3_uc002xtm.2_Missense_Mutation_p.G1313E|NCOA3_uc002xtn.2_Missense_Mutation_p.G1317E|NCOA3_uc010zyc.1_Missense_Mutation_p.G1113E	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	1318					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						TAAGGAATGGGACAACAACCA	0.398													A	46281156	G	A	46281156	3	1	27	1	0	0	0	0	1	0	0	0	10230	1174	41	4	4057	4	NCOA3	20	46281156	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	926721	46281156	16744364	8137	32088											
PREX1	57580	broad.mit.edu	37	chr20	47266665	47266665	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaattggtggggcagaagTccaggccacacagcgggtgg	18	9	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:47266665T>C	uc002xtw.1	-	24	2920	c.2897A>G	c.(2896-2898)GAC>GGC	p.D966G	PREX1_uc002xtv.1_Missense_Mutation_p.D263G	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	966					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGGGCAGAAGTCCAGGCCACA	0.592													C	47266665	T	C	47266665	3	2	27	1	0	0	0	0	1	0	0	0	12476	1667	58	3	2150	3	PREX1	20	47266665	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	985509	47266665	15758855	8138	32089											
ARFGEF2	10564	broad.mit.edu	37	chr20	47585715	47585715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaggacatcaagtggctgCcaggttctcccacgttctgc	10	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:47585715C>T	uc002xtx.3	+	9	1243	c.1091C>T	c.(1090-1092)GCC>GTC	p.A364V		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	364					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CAAGTGGCTGCCAGGTTCTCC	0.393													T	47585715	C	T	47585715	3	4	27	1	0	0	0	0	1	0	0	0	853	739	26	2	1125	2	ARFGEF2	20	47585715	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	319050	47585715	15439805	8139	32090											
ARFGEF2	10564	broad.mit.edu	37	chr20	47601286	47601286	+	Frame_Shift_Del	DEL	G	G	-													gttcaacaagaaacccaagaGggggatccagtttctccagg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:47601285_47601285AG>A	uc002xtx.4	+	14	2130	c.1978_1978AG>A	c.(1978-1980)aggfs	p.R660fs	ARFGEF2_uc010zyf.2_5'Flank	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	660	SEC7.				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GAAACCCAAGAGGGGGATCCA	0.473													-	47601286	G	-	47601286	7	5	27	1	0	1	0	1	0	0	0	0	853	1000	35	0	2037	0	ARFGEF2	20	47601286	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	15571	47601286	15424234	8140	32091											
ARFGEF2	10564	broad.mit.edu	37	chr20	47601974	47601974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgattttctgggagatagCgcaaggttcaacaaggaggt	15	6	2	1	rs145085689		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:47601974C>T	uc002xtx.3	+	16	2252	c.2100C>T	c.(2098-2100)AGC>AGT	p.S700S	ARFGEF2_uc010zyf.1_5'UTR	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	700	SEC7.				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGGGAGATAGCGCAAGGTTCA	0.453													T	47601974	C	T	47601974	2	4	27	1	0	0	0	0	0	0	0	1	853	767	27	1		1	ARFGEF2	20	47601974	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	688	47601974	15423546	8141	32092											
ARFGEF2	10564	broad.mit.edu	37	chr20	47621755	47621755	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcatattatgaagaaaaAcaggtatgtgttttgctctg	10	4	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:47621755A>G	uc002xtx.3	+	26	3733	c.3581A>G	c.(3580-3582)AAC>AGC	p.N1194S	ARFGEF2_uc010zyf.1_Missense_Mutation_p.N487S	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	1194					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ATGAAGAAAAACAGGTATGTG	0.219													G	47621755	A	G	47621755	3	3	27	1	0	0	0	0	1	0	0	0	853	43	2	3	3683	3	ARFGEF2	20	47621755	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	19781	47621755	15403765	8142	32093											
ARFGEF2	10564	broad.mit.edu	37	chr20	47630429	47630429	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacctttgaaaagcactggTggcaggacctgttcagaatc	10	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:47630429T>C	uc002xtx.3	+	30	4263	c.4111T>C	c.(4111-4113)TGG>CGG	p.W1371R	ARFGEF2_uc010zyf.1_Missense_Mutation_p.W664R	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	1371					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAAGCACTGGTGGCAGGACCT	0.468													C	47630429	T	C	47630429	3	2	27	1	0	0	0	0	1	0	0	0	853	1696	59	3	4229	3	ARFGEF2	20	47630429	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	8674	47630429	15395091	8143	32094											
DDX27	55661	broad.mit.edu	37	chr20	47852753	47852753	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccgtggacttgacatTgagggggtcaaaacggtgag	16	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:47852753T>C	uc002xuh.2	+	13	1648	c.1587T>C	c.(1585-1587)ATT>ATC	p.I529I		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	529	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			kidney(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GACTTGACATTGAGGGGGTCA	0.517													C	47852753	T	C	47852753	2	2	27	1	0	0	0	0	0	0	0	1	4354	1800	63	3		3	DDX27	20	47852753	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	222324	47852753	15172767	8144	32095											
ZNFX1	57169	broad.mit.edu	37	chr20	47863988	47863988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggctcccccacaatcgCcaatcacatagatatggcca	6	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:47863988C>T	uc002xui.2	-	14	5820	c.5573G>A	c.(5572-5574)GGC>GAC	p.G1858D		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1858							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCCACAATCGCCAATCACATA	0.517													T	47863988	C	T	47863988	3	4	27	1	0	0	0	0	1	0	0	0	18202	739	26	2	187	2	ZNFX1	20	47863988	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	11235	47863988	15161532	8145	32096											
ZNFX1	57169	broad.mit.edu	37	chr20	47864700	47864700	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggatgggcacctggcagaTagggcagactttcaatctga	14	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:47864700T>C	uc002xui.2	-	14	5108	c.4861A>G	c.(4861-4863)ATC>GTC	p.I1621V		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1621							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACCTGGCAGATAGGGCAGACT	0.488													C	47864700	T	C	47864700	3	2	27	1	0	0	0	0	1	0	0	0	18202	1406	49	3	899	3	ZNFX1	20	47864700	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	712	47864700	15160820	8146	32097											
ZNFX1	57169	broad.mit.edu	37	chr20	47874037	47874037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggccagaagcattttagCcaactcctggtctgctccac	8	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:47874037C>T	uc002xui.2	-	8	2828	c.2581G>A	c.(2581-2583)GCT>ACT	p.A861T		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	861							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGCATTTTAGCCAACTCCTGG	0.567													T	47874037	C	T	47874037	3	4	27	1	0	0	0	0	1	0	0	0	18202	739	26	2	3203	2	ZNFX1	20	47874037	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	9337	47874037	15151483	8147	32098											
KCNB1	3745	broad.mit.edu	37	chr20	47990019	47990019	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcccccggttcctgagagggTcatggtacatccctagaacg	11	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:47990019T>A	uc002xur.1	-	2	2242	c.2078A>T	c.(2077-2079)GAC>GTC	p.D693V	KCNB1_uc002xus.1_Missense_Mutation_p.D693V	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	693	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCTGAGAGGGTCATGGTACAT	0.562													A	47990019	T	A	47990019	3	1	27	1	0	0	0	0	1	0	0	0	8012	1667	58	5	502	5	KCNB1	20	47990019	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	115982	47990019	15035501	8148	32099											
SLC9A8	23315	broad.mit.edu	37	chr20	48431651	48431651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcaagcccatcctccccGtgcagacaggggagcaggcc	13	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:48431651G>A	uc002xuv.1	+	2	343	c.133G>A	c.(133-135)GTG>ATG	p.V45M	SLC9A8_uc010zym.1_Translation_Start_Site|SLC9A8_uc010zyj.1_Missense_Mutation_p.V45M|SLC9A8_uc010zyk.1_Missense_Mutation_p.V45M|SLC9A8_uc010zyl.1_Missense_Mutation_p.V45M|SLC9A8_uc010gib.1_Missense_Mutation_p.V45M	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	45						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CATCCTCCCCGTGCAGACAGG	0.577													A	48431651	G	A	48431651	3	1	27	1	0	0	0	0	1	0	0	0	14720	1145	40	1	139	1	SLC9A8	20	48431651	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	441632	48431651	14593869	8149	32100											
FAM65C	140876	broad.mit.edu	37	chr20	49218812	49218812	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgctgtggaacagggagcCctgtggcaggctggggctct	18	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:49218812C>A	uc002xvm.2	-	13	1762	c.1444G>T	c.(1444-1446)GGC>TGC	p.G482C	FAM65C_uc010zyt.1_Missense_Mutation_p.G486C|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.G482C	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	482										ovary(2)	2						AACAGGGAGCCCTGTGGCAGG	0.682													A	49218812	C	A	49218812	3	1	27	1	0	0	0	0	1	0	0	0	5601	623	22	5	1436	5	FAM65C	20	49218812	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	787161	49218812	13806708	8150	32101											
FAM65C	140876	broad.mit.edu	37	chr20	49224977	49224977	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacccaactccgtgatgtccAccacgatgacctgcggccgc	9	17	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:49224977A>G	uc002xvm.2	-	11	1211	c.893T>C	c.(892-894)GTG>GCG	p.V298A	FAM65C_uc010zyt.1_Missense_Mutation_p.V302A|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.V298A	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	298										ovary(2)	2						CGTGATGTCCACCACGATGAC	0.662													G	49224977	A	G	49224977	3	3	27	1	0	0	0	0	1	0	0	0	5601	159	6	3	1995	3	FAM65C	20	49224977	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	6165	49224977	13800543	8151	32102											
FAM65C	140876	broad.mit.edu	37	chr20	49225053	49225053	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccacagccagcgagcccaGgccccgcaactccgtcacct	8	21	1	0	rs139011816		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:49225053G>T	uc002xvm.2	-	11	1135	c.817C>A	c.(817-819)CTG>ATG	p.L273M	FAM65C_uc010zyt.1_Missense_Mutation_p.L277M|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.L273M	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	273										ovary(2)	2						AGCGAGCCCAGGCCCCGCAAC	0.682													T	49225053	G	T	49225053	3	4	27	1	0	0	0	0	1	0	0	0	5601	991	35	5	2071	5	FAM65C	20	49225053	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	76	49225053	13800467	8152	32103											
ADNP	23394	broad.mit.edu	37	chr20	49509355	49509355	+	Frame_Shift_Del	DEL	T	T	-													agtgcatcagatatgggtccTtttaggattgaaaagcaaag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:49509354_49509354CT>C	uc002xvt.1	-	4	2242	c.1897_1897AG>G	c.(1897-1899)ggafs	p.G633fs	ADNP_uc002xvu.1_Frame_Shift_Del_p.G633fs	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	633						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GATATGGGTCCTTTTAGGATT	0.418													-	49509355	T	-	49509355	7	5	27	1	0	1	0	1	0	0	0	0	323	1606	56	0	1416	0	ADNP	20	49509355	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	284302	49509355	13516165	8153	32104											
DPM1	8813	broad.mit.edu	37	chr20	49575045	49575045	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgaggactacgactgaCttccaaggaggccatggcgg	14	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:49575045C>G	uc002xvw.1	-	1	16	c.16G>C	c.(16-18)GTC>CTC	p.V6L	DPM1_uc002xvx.1_RNA|MOCS3_uc002xvy.1_5'Flank	NM_003859	NP_003850	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase 1	6					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			ovary(1)	1						CTACGACTGACTTCCAAGGAG	0.567													G	49575045	C	G	49575045	3	3	27	1	0	0	0	0	1	0	0	0	4724	565	20	5	802	5	DPM1	20	49575045	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	65690	49575045	13450475	8154	32105											
NFATC2	4773	broad.mit.edu	37	chr20	50139780	50139780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggccttggatggggcggCagacaccggcgaggggtcag	20	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:50139780C>T	uc002xwd.2	-	2	1220	c.1000G>A	c.(1000-1002)GCC>ACC	p.A334T	NFATC2_uc002xwc.2_Missense_Mutation_p.A334T|NFATC2_uc010zyv.1_Missense_Mutation_p.A115T|NFATC2_uc010zyw.1_Missense_Mutation_p.A115T|NFATC2_uc010zyx.1_Missense_Mutation_p.A314T|NFATC2_uc010zyy.1_Missense_Mutation_p.A115T|NFATC2_uc010zyz.1_Missense_Mutation_p.A115T|NFATC2_uc002xwe.2_Missense_Mutation_p.A314T	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	334					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					GATGGGGCGGCAGACACCGGC	0.667													T	50139780	C	T	50139780	3	4	27	1	0	0	0	0	1	0	0	0	10362	710	25	2	1861	2	NFATC2	20	50139780	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	564735	50139780	12885740	8155	32106											
ATP9A	10079	broad.mit.edu	37	chr20	50235532	50235532	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaccagggcacaatcatgCttcctgcggaaggcgttcag	12	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:50235532C>T	uc002xwg.1	-	20	2166	c.2166G>A	c.(2164-2166)AAG>AAA	p.K722K	ATP9A_uc010gih.1_Silent_p.K586K|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	722	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						CACAATCATGCTTCCTGCGGA	0.622													T	50235532	C	T	50235532	2	4	27	1	0	0	0	0	0	0	0	1	1198	796	28	2		2	ATP9A	20	50235532	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	95752	50235532	12789988	8156	32107											
SALL4	57167	broad.mit.edu	37	chr20	50406794	50406794	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctgccctggcgctgcAggttaaaaggggcaggaccc	14	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:50406794A>G	uc002xwh.3	-	2	2329	c.2228T>C	c.(2227-2229)CTG>CCG	p.L743P	SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	743					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CTGGCGCTGCAGGTTAAAAGG	0.587													G	50406794	A	G	50406794	3	3	27	1	0	0	0	0	1	0	0	0	13813	188	7	3	945	3	SALL4	20	50406794	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	171262	50406794	12618726	8157	32108											
TSHZ2	128553	broad.mit.edu	37	chr20	51871037	51871039	+	In_Frame_Del	DEL	AGA	AGA	-													tgcagattctttttcttctcAgaagaacgccaacttgcagt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:51871036_51871038CAGA>C	uc002xwo.3	+	1	1926_1928	c.1039_1041CAGA>C	c.(1039-1041)cag>C	p.Q347del	TSHZ2_uc021wex.1_In_Frame_Del_p.Q344del	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	347					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TTTTTCTTCTCAGAAGAACGCCA	0.493													-	51871039	AGA	-	51871037	7	5	27	1	0	1	0	1	0	0	0	0	16621	188	7	0	1046	0	TSHZ2	20	51871037	In_Frame_Del	DEL	AGA	TCGA-BR-6452-01A-12D-1800-08	1464243	51871037	11154483	8158	32109											
ZNF217	7764	broad.mit.edu	37	chr20	52198090	52198090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccattttcatccagaggggCggcgaggtcaggagaacacg	14	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:52198090C>T	uc002xwq.3	-	1	1547	c.1276G>A	c.(1276-1278)GCC>ACC	p.A426T	ZNF217_uc010gij.1_Missense_Mutation_p.A418T	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	426					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TCCAGAGGGGCGGCGAGGTCA	0.637													T	52198090	C	T	52198090	3	4	27	1	0	0	0	0	1	0	0	0	17769	768	27	1	1886	1	ZNF217	20	52198090	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	327053	52198090	10827430	8159	32110											
BCAS1	8537	broad.mit.edu	37	chr20	52573988	52573988	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacttggcagctggagtcttTcccatttatttcttctgagt	8	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:52573988T>C	uc002xws.2	-	10	1737	c.1399A>G	c.(1399-1401)AAA>GAA	p.K467E	BCAS1_uc010zza.1_Intron|BCAS1_uc010zzb.1_Intron|BCAS1_uc010gim.2_Intron|BCAS1_uc002xwt.2_Missense_Mutation_p.K453E|BCAS1_uc010gil.1_Intron	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	467						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CTGGAGTCTTTCCCATTTATT	0.433													C	52573988	T	C	52573988	3	2	27	1	0	0	0	0	1	0	0	0	1350	1792	62	3	367	3	BCAS1	20	52573988	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	375898	52573988	10451532	8160	32111											
CYP24A1	1591	broad.mit.edu	37	chr20	52779357	52779357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaaggaaatctgcactagGctgctgagaatacttctcta	8	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:52779357G>A	uc002xwv.2	-	7	1287	c.889C>T	c.(889-891)CCT>TCT	p.P297S	CYP24A1_uc002xwu.1_Missense_Mutation_p.P155S|CYP24A1_uc002xww.2_Missense_Mutation_p.P297S	NM_000782	NP_000773	Q07973	CP24A_HUMAN	cytochrome P450 family 24 subfamily A	297					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TCTGCACTAGGCTGCTGAGAA	0.438													A	52779357	G	A	52779357	3	1	27	1	0	0	0	0	1	0	0	0	4154	1203	42	2	675	2	CYP24A1	20	52779357	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	205369	52779357	10246163	8161	32112											
AURKA	6790	broad.mit.edu	37	chr20	54956577	54956577	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catattccagaattaggtagActctggtagcatcatggaaa	9	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:54956577A>G	uc002xxd.1	-	8	1183	c.617T>C	c.(616-618)GTC>GCC	p.V206A	AURKA_uc002xxe.1_Missense_Mutation_p.V206A|AURKA_uc002xxf.1_Missense_Mutation_p.V206A|AURKA_uc002xxg.1_Missense_Mutation_p.V206A|AURKA_uc002xxh.1_Missense_Mutation_p.V206A|AURKA_uc002xxi.1_Missense_Mutation_p.V206A|AURKA_uc002xxj.1_Missense_Mutation_p.V206A|AURKA_uc002xxk.1_Missense_Mutation_p.V206A|AURKA_uc010zzd.1_RNA	NM_198433	NP_940835	O14965	AURKA_HUMAN	serine/threonine protein kinase 6	206	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(1)|large_intestine(1)|skin(1)	8			Colorectal(105;0.202)			AATTAGGTAGACTCTGGTAGC	0.378													G	54956577	A	G	54956577	3	3	27	1	0	0	0	0	1	0	0	0	1221	275	10	3	610	3	AURKA	20	54956577	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2177220	54956577	8068943	8162	32113											
C20orf85	128602	broad.mit.edu	37	chr20	56735739	56735739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttccatcccccccagtccCacagaccacccagggcttca	5	21	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:56735739C>T	uc002xyv.2	+	4	313	c.275C>T	c.(274-276)CCA>CTA	p.P92L		NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	hypothetical protein LOC128602	92										ovary(1)	1	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			CCCCCAGTCCCACAGACCACC	0.572													T	56735739	C	T	56735739	3	4	27	1	0	0	0	0	1	0	0	0	2120	594	21	4	289	4	C20orf85	20	56735739	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1779162	56735739	6289781	8163	32114											
STX16	8675	broad.mit.edu	37	chr20	57244488	57244488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccaccagcttccggcacGcacagtcaggctacctcaaa	7	17	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:57244488G>A	uc002xzi.2	+	5	1270	c.535G>A	c.(535-537)GCA>ACA	p.A179T	STX16_uc010zzq.1_Intron|STX16_uc002xzk.2_Missense_Mutation_p.A162T|STX16_uc002xzm.2_Missense_Mutation_p.A175T|STX16_uc002xzj.2_Missense_Mutation_p.A158T|STX16_uc002xzl.2_Intron	NM_001001433	NP_001001433	O14662	STX16_HUMAN	syntaxin 16 isoform a	179	Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			ovary(1)	1	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			CTTCCGGCACGCACAGTCAGG	0.587													A	57244488	G	A	57244488	3	1	27	1	0	0	0	0	1	0	0	0	15338	1087	38	1	553	1	STX16	20	57244488	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	508749	57244488	5781032	8164	32115											
GNAS	2778	broad.mit.edu	37	chr20	57429108	57429108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtcgcggcctcgagtgCggtccgcctcactcccgccg	14	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:57429108C>T	uc002xzw.2	+	1	1073	c.788C>T	c.(787-789)GCG>GTG	p.A263V	GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCTCGAGTGCGGTCCGCCTC	0.672			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			T	57429108	C	T	57429108	3	4	27	1	0	0	0	0	1	0	0	0	6510	768	27	1	1532	1	GNAS	20	57429108	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	184620	57429108	5596412	8165	32116											
TH1L	51497	broad.mit.edu	37	chr20	57566480	57566480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttggcgtacgcagcaagCgtggttgagacctggaagaa	14	8	1	2	rs143108259	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:57566480C>T	uc002yag.2	+	9	1122	c.1095C>T	c.(1093-1095)AGC>AGT	p.S365S	TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Silent_p.S365S	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	365					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)		Colorectal(105;0.109)			ACGCAGCAAGCGTGGTTGAGA	0.458													T	57566480	C	T	57566480	2	4	27	1	0	0	0	0	0	0	0	1	15836	767	27	1		1	TH1L	20	57566480	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	137372	57566480	5459040	8166	32117											
TH1L	51497	broad.mit.edu	37	chr20	57568788	57568788	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggagaagctggacactgAcatttcactcattcgctatt	8	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:57568788A>G	uc002yag.2	+	13	1604	c.1577A>G	c.(1576-1578)GAC>GGC	p.D526G	TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Intron	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	526					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)		Colorectal(105;0.109)			CTGGACACTGACATTTCACTC	0.443													G	57568788	A	G	57568788	3	3	27	1	0	0	0	0	1	0	0	0	15836	275	10	3	1627	3	TH1L	20	57568788	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2308	57568788	5456732	8167	32118											
TUBB1	81027	broad.mit.edu	37	chr20	57599377	57599377	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgttcgatgcccgcaatAccatggctgcctgtgacctc	10	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:57599377A>G	uc002yak.2	+	4	1164	c.895A>G	c.(895-897)ACC>GCC	p.T299A		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	beta tubulin 1, class VI	299					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			ovary(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	TGCCCGCAATACCATGGCTGC	0.632													G	57599377	A	G	57599377	3	3	27	1	0	0	0	0	1	0	0	0	16750	391	14	3	909	3	TUBB1	20	57599377	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	30589	57599377	5426143	8168	32119											
ZNF831	128611	broad.mit.edu	37	chr20	57766438	57766438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacatcgtgggcactctgCctgtcctgtcgccgggcctg	13	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:57766438C>T	uc002yan.2	+	1	364	c.364C>T	c.(364-366)CCT>TCT	p.P122S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	122						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					GGGCACTCTGCCTGTCCTGTC	0.682													T	57766438	C	T	57766438	3	4	27	1	0	0	0	0	1	0	0	0	18182	739	26	2	366	2	ZNF831	20	57766438	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	167061	57766438	5259082	8169	32120											
ZNF831	128611	broad.mit.edu	37	chr20	57766652	57766652	+	Missense_Mutation	SNP	C	C	T													tctctacaagcacaggcggaCgcagacgcacctcaacaact							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:57766652C>T	uc002yan.2	+	1	578	c.578C>T	c.(577-579)ACG>ATG	p.T193M		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	193	C2H2-type 2.					intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CACAGGCGGACGCAGACGCAC	0.662													T	57766652	C	T	57766652	3	4	27	1	0	0	0	0	1	0	0	0	18182	536	19	1	580	1	ZNF831	20	57766652	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	214	57766652	5258868	8170	32121	108	2									
ZNF831	128611	broad.mit.edu	37	chr20	57766659	57766659	+	Silent	SNP	G	G	A													aagcacaggcggacgcagacGcacctcaacaactcccggct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:57766659G>A	uc002yan.2	+	1	585	c.585G>A	c.(583-585)ACG>ACA	p.T195T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	195	C2H2-type 2.					intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					GGACGCAGACGCACCTCAACA	0.667													A	57766659	G	A	57766659	2	1	27	1	0	0	0	0	0	0	0	1	18182	1074	38	1		1	ZNF831	20	57766659	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	7	57766659	5258861	8171	32122	108	2									
SYCP2	10388	broad.mit.edu	37	chr20	58443508	58443509	+	Frame_Shift_Ins	INS	-	-	T													catcttcaattttacacagtINStttttgggaagcaagtttgc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:58443507_58443508G>GT	uc002yaz.3	-	36	4087_4088	c.3948_3949C>AC	c.(3946-3951)aaactgfs	p.K1316fs		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	1316					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.K1315R(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATTTTACACAGTTTTTTGGGAA	0.337													T	58443509	-	T	58443508	7	5	27	1	0	1	1	0	0	0	0	0	15429	1722	60	0	676	0	SYCP2	20	58443508	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	676849	58443508	4582012	8172	32123											
C20orf177	63939	broad.mit.edu	37	chr20	58519370	58519370	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagctgaagaaattgatccAgtttactttgatcttcaccc	7	10	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:58519370A>G	uc002yba.2	+	5	787	c.372A>G	c.(370-372)CCA>CCG	p.P124P	C20orf177_uc010zzx.1_Intron|C20orf177_uc002ybc.2_Silent_p.P124P	NM_022106	NP_071389	Q9NTX9	CT177_HUMAN	hypothetical protein LOC63939	124										ovary(2)|breast(1)	3	all_lung(29;0.00693)		BRCA - Breast invasive adenocarcinoma(7;1.22e-08)			AAATTGATCCAGTTTACTTTG	0.453													G	58519370	A	G	58519370	2	3	27	1	0	0	0	0	0	0	0	1	2096	175	7	3		3	C20orf177	20	58519370	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	75862	58519370	4506150	8173	32124											
NTSR1	4923	broad.mit.edu	37	chr20	61391524	61391524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctgcccggtgtggcggCgcaggaggaagaggccagcc	18	13	1	1	rs73918681	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:61391524C>T	uc002ydf.2	+	4	1533	c.1162C>T	c.(1162-1164)CGC>TGC	p.R388C		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	388	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GGTGTGGCGGCGCAGGAGGAA	0.632													T	61391524	C	T	61391524	3	4	27	1	0	0	0	0	1	0	0	0	10710	768	27	1	1176	1	NTSR1	20	61391524	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2872154	61391524	1633996	8174	32125											
COL20A1	57642	broad.mit.edu	37	chr20	61941211	61941211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggactccagccccccggCaccccctcaagtatctgatc	7	20	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:61941211C>T	uc011aau.1	+	10	1307	c.1207C>T	c.(1207-1209)CAC>TAC	p.H403Y	COL20A1_uc011aav.1_Missense_Mutation_p.H224Y	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	403	Fibronectin type-III 2.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					AGCCCCCCGGCACCCCCTCAA	0.692											OREG0026127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	61941211	C	T	61941211	3	4	27	1	0	0	0	0	1	0	0	0	3679	710	25	2	1241	2	COL20A1	20	61941211	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	549687	61941211	1084309	8175	32126											
CHRNA4	1137	broad.mit.edu	37	chr20	61981776	61981776	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggcgagcggtggtgcacGttgagcacgaagaccgtgat	17	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:61981776G>A	uc002yes.2	-	5	1165	c.987C>T	c.(985-987)AAC>AAT	p.N329N	CHRNA4_uc002yet.1_Silent_p.N153N|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.N258N|CHRNA4_uc002yev.1_Silent_p.N153N|CHRNA4_uc010gkf.1_Silent_p.N153N	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	329	Helical; (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GGTGGTGCACGTTGAGCACGA	0.622													A	61981776	G	A	61981776	2	1	27	1	0	0	0	0	0	0	0	1	3385	1136	40	1		1	CHRNA4	20	61981776	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	40565	61981776	1043744	8176	32127											
KCNQ2	3785	broad.mit.edu	37	chr20	62038197	62038197	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctccttggactgggagaTgctgaagccgctgaaggaac	14	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:62038197T>C	uc002yey.1	-	17	2596	c.2419A>G	c.(2419-2421)ATC>GTC	p.I807V	KCNQ2_uc002yez.1_Missense_Mutation_p.I776V|KCNQ2_uc002yfa.1_Missense_Mutation_p.I789V|KCNQ2_uc002yfb.1_Missense_Mutation_p.I779V	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	807	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GACTGGGAGATGCTGAAGCCG	0.637													C	62038197	T	C	62038197	3	2	27	1	0	0	0	0	1	0	0	0	8083	1464	51	3	203	3	KCNQ2	20	62038197	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	56421	62038197	987323	8177	32128											
EEF1A2	1917	broad.mit.edu	37	chr20	62121899	62121899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccacacacgttgccccgcCggatgtccttcaccgacacg	8	20	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:62121899C>T	uc002yfd.1	-	5	1063	c.962G>A	c.(961-963)CGG>CAG	p.R321Q	EEF1A2_uc002yfe.1_Missense_Mutation_p.R321Q|EEF1A2_uc010gkg.1_Missense_Mutation_p.R321Q	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	321						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GTTGCCCCGCCGGATGTCCTT	0.652													T	62121899	C	T	62121899	3	4	27	1	0	0	0	0	1	0	0	0	4924	652	23	1	441	1	EEF1A2	20	62121899	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	83702	62121899	903621	8178	32129											
PRIC285	85441	broad.mit.edu	37	chr20	62192702	62192702	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctggcccctgccacttaCcagaccaggtcctccctgga	8	20	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:62192702C>T	uc002yfm.2	-	14	7845	c.6953_splice	c.e14+1	p.W2318_splice	PRIC285_uc002yfl.1_Splice_Site_p.W1749_splice	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285						cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CTGCCACTTACCAGACCAGGT	0.647													T	62192702	C	T	62192702	5	4	27	1	0	0	0	0	0	0	1	0	12485	521	18	4	1023	4	PRIC285	20	62192702	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	70803	62192702	832818	8179	32130											
PRIC285	85441	broad.mit.edu	37	chr20	62196064	62196064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggccacatcagtgatgtGcacagccacctcgcacctgg	11	15	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:62196064G>A	uc002yfm.2	-	9	5003	c.4111C>T	c.(4111-4113)CAC>TAC	p.H1371Y	PRIC285_uc002yfl.1_Missense_Mutation_p.H802Y	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1371					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TCAGTGATGTGCACAGCCACC	0.672													A	62196064	G	A	62196064	3	1	27	1	0	0	0	0	1	0	0	0	12485	1319	46	2	3886	2	PRIC285	20	62196064	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3362	62196064	829456	8180	32131											
ZBTB46	140685	broad.mit.edu	37	chr20	62378537	62378537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcccggccatgccgcggcCagcacagtcggtgcacacac	14	17	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:62378537C>T	uc002ygv.1	-	5	1717	c.1516G>A	c.(1516-1518)GGC>AGC	p.G506S	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					ATGCCGCGGCCAGCACAGTCG	0.697													T	62378537	C	T	62378537	3	4	27	1	0	0	0	0	1	0	0	0	17544	594	21	4	257	4	ZBTB46	20	62378537	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	182473	62378537	646983	8181	32132											
ZBTB46	140685	broad.mit.edu	37	chr20	62407049	62407049	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgggacagcgagtgggcccCtctgggcaggtactcgaaca	15	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:62407049C>A	uc002ygv.1	-	3	1405	c.1204G>T	c.(1204-1206)GGG>TGG	p.G402W	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GAGTGGGCCCCTCTGGGCAGG	0.642											OREG0026130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	62407049	C	A	62407049	3	1	27	1	0	0	0	0	1	0	0	0	17544	681	24	5	577	5	ZBTB46	20	62407049	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	28512	62407049	618471	8182	32133											
ZNF512B	57473	broad.mit.edu	37	chr20	62597536	62597536	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggcacgaggtgctttgTtctccgacctggtcagcagc	13	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:62597536T>A	uc002yhl.1	-	5	1046	c.992A>T	c.(991-993)AAC>ATC	p.N331I		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AGGTGCTTTGTTCTCCGACCT	0.577													A	62597536	T	A	62597536	3	1	27	1	0	0	0	0	1	0	0	0	17954	1725	60	5	1738	5	ZNF512B	20	62597536	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	190487	62597536	427984	8183	32134											
PRPF6	24148	broad.mit.edu	37	chr20	62626810	62626810	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattggccaagcgaggaacaCtctgatggacatgaggctga	14	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:62626810C>A	uc002yho.2	+	6	914	c.746C>A	c.(745-747)ACT>AAT	p.T249N	PRPF6_uc002yhp.2_Missense_Mutation_p.T249N	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	249					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GCGAGGAACACTCTGATGGAC	0.458													A	62626810	C	A	62626810	3	1	27	1	0	0	0	0	1	0	0	0	12574	565	20	5	768	5	PRPF6	20	62626810	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	29274	62626810	398710	8184	32135											
RGS19	10287	broad.mit.edu	37	chr20	62705223	62705223	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcctaggcctcggaggaggActgtgatggcccctgcagca	16	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:62705223A>T	uc002yhy.2	-	6	904	c.637T>A	c.(637-639)TCC>ACC	p.S213T	RGS19_uc002yhz.2_Missense_Mutation_p.S191T|RGS19_uc002yia.2_Missense_Mutation_p.S213T|RGS19_uc002yib.2_Missense_Mutation_p.S213T	NM_005873	NP_005864	P49795	RGS19_HUMAN	G protein signalling regulator 19	213	Interaction with GIPC.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			skin(1)	1	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TCGGAGGAGGACTGTGATGGC	0.672													T	62705223	A	T	62705223	3	4	27	1	0	0	0	0	1	0	0	0	13301	275	10	5	20	5	RGS19	20	62705223	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	78413	62705223	320297	8185	32136											
NPBWR2	2832	broad.mit.edu	37	chr20	62737989	62737989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttaggattacaaggatgaCggccgtgttgccagtcagcc	12	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:62737989C>T	uc011abt.1	-	1	196	c.196G>A	c.(196-198)GTC>ATC	p.V66I		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	66	Helical; Name=1; (Potential).					plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					ACAAGGATGACGGCCGTGTTG	0.612													T	62737989	C	T	62737989	3	4	27	1	0	0	0	0	1	0	0	0	10569	536	19	1	808	1	NPBWR2	20	62737989	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	32766	62737989	287531	8186	32137											
PCMTD2	55251	broad.mit.edu	37	chr20	62896678	62896678	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctccggattgttctcagTatgatcgtgtatactgtggg	11	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr20:62896678T>C	uc002yil.3	+	4	678	c.478T>C	c.(478-480)TAT>CAT	p.Y160H	PCMTD2_uc002yim.3_Missense_Mutation_p.Y160H	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	160						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTGTTCTCAGTATGATCGTGT	0.448													C	62896678	T	C	62896678	3	2	27	1	0	0	0	0	1	0	0	0	11587	1638	57	3	488	3	PCMTD2	20	62896678	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	158689	62896678	128842	8187	32138											
RBM11	54033	broad.mit.edu	37	chr21	15599525	15599525	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacgaaagagacaaaagcaaAcaagtgatagtgatagtagc	10	5	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:15599525A>G	uc002yjo.3	+	5	799	c.757A>G	c.(757-759)ACA>GCA	p.T253A	RBM11_uc002yjn.3_Missense_Mutation_p.T139A|RBM11_uc002yjp.3_Missense_Mutation_p.T139A	NM_144770	NP_658983	P57052	RBM11_HUMAN	RNA binding motif protein 11	253							nucleotide binding|RNA binding				0				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		ACAAAAGCAAACAAGTGATAG	0.398													G	15599525	A	G	15599525	3	3	27	1	0	0	0	0	1	0	0	0	13112	43	2	3	775	3	RBM11	21	15599525	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08		15599525	32530370	8188	32139											
USP25	29761	broad.mit.edu	37	chr21	17172081	17172081	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttgttctttttcagtcattAtttaatcttttggaatttag	6	4	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:17172081A>T	uc002yjy.1	+	6	778	c.561A>T	c.(559-561)TTA>TTT	p.L187F	USP25_uc011aby.1_Missense_Mutation_p.L187F|USP25_uc002yjz.1_Missense_Mutation_p.L187F|USP25_uc010gla.1_Missense_Mutation_p.L187F	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	187					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TTCAGTCATTATTTAATCTTT	0.299													T	17172081	A	T	17172081	3	4	27	1	0	0	0	0	1	0	0	0	17053	446	16	5	583	5	USP25	21	17172081	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1572556	17172081	30957814	8189	32140											
USP25	29761	broad.mit.edu	37	chr21	17177457	17177457	+	Frame_Shift_Del	DEL	T	T	-													taggaacatcggaatttgccTtttatgcgtgagctgaggta							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:17177456_17177456CT>C	uc011aby.1	+	6	876	c.659_659CT>C	c.(658-660)cctfs	p.P220fs	USP25_uc002yjz.1_Frame_Shift_Del_p.P220fs|USP25_uc010gla.1_Frame_Shift_Del_p.P220fs|USP25_uc002yjy.1_Frame_Shift_Del_p.P220fs	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	220					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CGGAATTTGCCTTTTATGCGT	0.313													-	17177457	T	-	17177457	7	5	27	1	0	1	0	1	0	0	0	0	17053	1596	56	0	686	0	USP25	21	17177457	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	5376	17177457	30952438	8190	32141											
USP25	29761	broad.mit.edu	37	chr21	17203831	17203831	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggatgaagtacaatgatAttgctgtgacaaaatcatca	9	5	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:17203831A>T	uc002yjy.1	+	16	2093	c.1876A>T	c.(1876-1878)ATT>TTT	p.I626F	USP25_uc011aby.1_Missense_Mutation_p.I626F|USP25_uc002yjz.1_Missense_Mutation_p.I626F|USP25_uc010gla.1_Intron	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	626					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GTACAATGATATTGCTGTGAC	0.398													T	17203831	A	T	17203831	3	4	27	1	0	0	0	0	1	0	0	0	17053	449	16	5	1938	5	USP25	21	17203831	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	26374	17203831	30926064	8191	32142											
TMPRSS15	5651	broad.mit.edu	37	chr21	19642347	19642347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggcatacactccggggCgattaggcagggcacacttg	13	13	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:19642347C>T	uc002ykw.2	-	25	3030	c.2999G>A	c.(2998-3000)CGC>CAC	p.R1000H		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	1000	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						CACTCCGGGGCGATTAGGCAG	0.448													T	19642347	C	T	19642347	3	4	27	1	0	0	0	0	1	0	0	0	16243	768	27	1	64	1	TMPRSS15	21	19642347	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2438516	19642347	28487548	8192	32143											
NCAM2	4685	broad.mit.edu	37	chr21	22746311	22746311	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaattggagggcatcaaaaGagcatgtaccttgatattga	11	5	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:22746311G>A	uc002yld.1	+	9	1422	c.1173G>A	c.(1171-1173)AAG>AAA	p.K391K	NCAM2_uc011acb.1_Silent_p.K249K|NCAM2_uc011acc.1_Silent_p.K416K	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	391	Ig-like C2-type 4.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GGCATCAAAAGAGCATGTACC	0.353													A	22746311	G	A	22746311	2	1	27	1	0	0	0	0	0	0	0	1	10203	933	33	4		4	NCAM2	21	22746311	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3103964	22746311	25383584	8193	32144											
ATP5J	522	broad.mit.edu	37	chr21	27102015	27102015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaagttccttattaaatgCcactgctgtaacaccaatgt	5	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:27102015C>T	uc002yls.2	-	2	764	c.91G>A	c.(91-93)GCA>ACA	p.A31T	ATP5J_uc002ylt.2_Missense_Mutation_p.A31T|ATP5J_uc002ylu.2_Missense_Mutation_p.A31T|ATP5J_uc002ylv.2_Missense_Mutation_p.A39T|ATP5J_uc002ylw.2_Missense_Mutation_p.A31T	NM_001685	NP_001676	P18859	ATP5J_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	31					ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity				0						TTATTAAATGCCACTGCTGTA	0.408													T	27102015	C	T	27102015	3	4	27	1	0	0	0	0	1	0	0	0	1158	739	26	2	247	2	ATP5J	21	27102015	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4355704	27102015	21027880	8194	32145											
CYYR1	116159	broad.mit.edu	37	chr21	27852713	27852713	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgacccccatgataaatActattccaaaaacaatgccc	3	13	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:27852713A>C	uc002ymd.2	-	3	534	c.212T>G	c.(211-213)GTA>GGA	p.V71G	CYYR1_uc011ack.1_RNA|CYYR1_uc002yme.2_Missense_Mutation_p.V71G	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	cysteine and tyrosine-rich 1 protein precursor	71	Helical; (Potential).					integral to membrane					0						CATGATAAATACTATTCCAAA	0.448													C	27852713	A	C	27852713	3	2	27	1	0	0	0	0	1	0	0	0	4211	391	14	5	260	5	CYYR1	21	27852713	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	750698	27852713	20277182	8195	32146											
ADAMTS1	9510	broad.mit.edu	37	chr21	28212379	28212379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcttccatgaaaaggcGtctaaatggagacataaatc	8	10	1	2	rs142639689	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:28212379G>A	uc002ymf.2	-	6	2122	c.1667C>T	c.(1666-1668)ACG>ATG	p.T556M		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	556	Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		ATGAAAAGGCGTCTAAATGGA	0.443													A	28212379	G	A	28212379	3	1	27	1	0	0	0	0	1	0	0	0	255	1159	40	1	1252	1	ADAMTS1	21	28212379	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	359666	28212379	19917516	8196	32147											
ADAMTS5	11096	broad.mit.edu	37	chr21	28302342	28302342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttcccccggacgcagacGgaattactgtacagcctaca	8	15	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:28302342G>A	uc002ymg.2	-	7	2817	c.2088C>T	c.(2086-2088)TCC>TCT	p.S696S		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	696	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						GGACGCAGACGGAATTACTGT	0.498													A	28302342	G	A	28302342	2	1	27	1	0	0	0	0	0	0	0	1	269	1103	39	1		1	ADAMTS5	21	28302342	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	89963	28302342	19827553	8197	32148											
RWDD2B	10069	broad.mit.edu	37	chr21	30380219	30380219	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttttgcatttgttatagatAtgatggctgtagatccagag	10	5	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:30380219A>T	uc002yms.2	-	4	675	c.588T>A	c.(586-588)CAT>CAA	p.H196Q	RWDD2B_uc002ymt.2_Missense_Mutation_p.H167Q|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_Missense_Mutation_p.H116Q	NM_016940	NP_058636	P57060	RWD2B_HUMAN	RWD domain containing 2B	196											0						TGTTATAGATATGATGGCTGT	0.458													T	30380219	A	T	30380219	3	4	27	1	0	0	0	0	1	0	0	0	13756	446	16	5	379	5	RWDD2B	21	30380219	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2077877	30380219	17749676	8198	32149											
USP16	10600	broad.mit.edu	37	chr21	30409640	30409640	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacttgaaaataaaaaattAgaaaaagagagtaagaatga	8	1	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:30409640A>G	uc002ymy.2	+	6	694	c.492A>G	c.(490-492)TTA>TTG	p.L164L	USP16_uc002ymx.2_Silent_p.L163L|USP16_uc002ymw.2_Silent_p.L164L|USP16_uc011acm.1_Silent_p.L149L|USP16_uc011acn.1_Intron|USP16_uc011aco.1_5'Flank	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	ubiquitin specific protease 16 isoform a	164					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(2)|breast(1)|pancreas(1)	4						ATAAAAAATTAGAAAAAGAGA	0.313													G	30409640	A	G	30409640	2	3	27	1	0	0	0	0	0	0	0	1	17044	417	15	3		3	USP16	21	30409640	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	29421	30409640	17720255	8199	32150											
CLDN8	9073	broad.mit.edu	37	chr21	31587620	31587620	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacttctttccggtgtgataActtttttgggttgtgcgatg	12	6	1	1	rs146073584	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:31587620A>G	uc002ynu.1	-	1	699	c.624T>C	c.(622-624)AGT>AGC	p.S208S		NM_199328	NP_955360	P56748	CLD8_HUMAN	claudin 8	208	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0						CGGTGTGATAACTTTTTTGGG	0.413													G	31587620	A	G	31587620	2	3	27	1	0	0	0	0	0	0	0	1	3491	40	2	3		3	CLDN8	21	31587620	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1177980	31587620	16542275	8200	32151											
KRTAP23-1	337963	broad.mit.edu	37	chr21	31720870	31720870	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagtagcctgagtagcacaGgtagccctcacaggaatggg	15	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:31720870G>T	uc002yny.1	-	1	55	c.55C>A	c.(55-57)CTG>ATG	p.L19M		NM_181624	NP_853655	A1A580	KR231_HUMAN	keratin associated protein 23-1	19						intermediate filament					0						GAGTAGCACAGGTAGCCCTCA	0.552													T	31720870	G	T	31720870	3	4	27	1	0	0	0	0	1	0	0	0	8541	991	35	5	146	5	KRTAP23-1	21	31720870	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	133250	31720870	16409025	8201	32152											
KRTAP13-4	284827	broad.mit.edu	37	chr21	31802878	31802878	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagcagctgtcgctcccaGggctatggatctaggtgctg	13	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:31802878G>T	uc011acw.1	+	1	285	c.285G>T	c.(283-285)CAG>CAT	p.Q95H		NM_181600	NP_853631	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	95						intermediate filament					0						GTCGCTCCCAGGGCTATGGAT	0.547													T	31802878	G	T	31802878	3	4	27	1	0	0	0	0	1	0	0	0	8525	991	35	5	287	5	KRTAP13-4	21	31802878	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	82008	31802878	16327017	8202	32153											
C21orf45	54069	broad.mit.edu	37	chr21	33647200	33647200	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttatccacagaaacattacaGgaaacacctagaaacagaga	6	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:33647200G>T	uc002ypi.2	-	2	393	c.342C>A	c.(340-342)TCC>TCA	p.S114S	C21orf45_uc011adn.1_Silent_p.S114S	NM_018944	NP_061817	Q9NYP9	MS18A_HUMAN	chromosome 21 open reading frame 45	114					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm					0						AAACATTACAGGAAACACCTA	0.318													T	33647200	G	T	33647200	2	4	27	1	0	0	0	0	0	0	0	1	2126	987	35	5		5	C21orf45	21	33647200	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1844322	33647200	14482695	8203	32154											
GCFC1	94104	broad.mit.edu	37	chr21	34117160	34117160	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatccattgattaattttagTgtaattcccaccattcttga	4	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:34117160T>C	uc002yqn.2	-	13	2323	c.2133A>G	c.(2131-2133)ACA>ACG	p.T711T	GCFC1_uc002yql.2_Silent_p.T220T|GCFC1_uc002yqm.2_Silent_p.T205T|GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Silent_p.T711T	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	GC-rich sequence DNA-binding factor candidate	711				Missing (in Ref. 5; AAD34617).		cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						TTAATTTTAGTGTAATTCCCA	0.323													C	34117160	T	C	34117160	2	2	27	1	0	0	0	0	0	0	0	1	6289	1683	59	3		3	GCFC1	21	34117160	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	469960	34117160	14012735	8204	32155											
GCFC1	94104	broad.mit.edu	37	chr21	34136657	34136657	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaatacttttgagtacacAcctggacgaagaacattcaa	7	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:34136657A>G	uc002yqn.2	-	3	839	c.649_splice	c.e3+1	p.G217_splice	GCFC1_uc002yqo.2_Splice_Site|GCFC1_uc002yqp.2_Splice_Site_p.G217_splice|GCFC1_uc002yqr.2_Splice_Site_p.G217_splice	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	GC-rich sequence DNA-binding factor candidate							cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						TTGAGTACACACCTGGACGAA	0.353													G	34136657	A	G	34136657	5	3	27	1	0	0	0	0	0	0	1	0	6289	173	6	3	2284	3	GCFC1	21	34136657	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	19497	34136657	13993238	8205	32156											
IFNAR2	3455	broad.mit.edu	37	chr21	34617301	34617301	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caagatatcattgcgaaattTccggtccatcttatcatggg	8	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:34617301T>A	uc002yrd.2	+	4	471	c.143T>A	c.(142-144)TTC>TAC	p.F48Y	IFNAR2_uc002yrb.2_Missense_Mutation_p.F48Y|IFNAR2_uc002yrc.2_Missense_Mutation_p.F48Y|IFNAR2_uc002yre.2_Missense_Mutation_p.F48Y|IFNAR2_uc002yrf.2_Missense_Mutation_p.F48Y|IFNAR2_uc002yrg.2_5'Flank	NM_207585	NP_997468	P48551	INAR2_HUMAN	interferon alpha/beta receptor 2 isoform a	48	Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity				0					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TTGCGAAATTTCCGGTCCATC	0.353													A	34617301	T	A	34617301	3	1	27	1	0	0	0	0	1	0	0	0	7545	1783	62	5	153	5	IFNAR2	21	34617301	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	480644	34617301	13512594	8206	32157											
IFNAR2	3455	broad.mit.edu	37	chr21	34619086	34619086	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaagatcattttgtgacctCacagatgagtggagaagcac	10	8	2	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:34619086C>T	uc002yrd.2	+	5	613	c.285C>T	c.(283-285)CTC>CTT	p.L95L	IFNAR2_uc002yrb.2_Silent_p.L95L|IFNAR2_uc002yrc.2_Silent_p.L95L|IFNAR2_uc002yre.2_Silent_p.L95L|IFNAR2_uc002yrf.2_Silent_p.L95L|IFNAR2_uc002yrg.2_5'UTR|IL10RB_uc002yrh.1_5'Flank|IL10RB_uc002yri.1_5'Flank	NM_207585	NP_997468	P48551	INAR2_HUMAN	interferon alpha/beta receptor 2 isoform a	95	Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity				0					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TTTGTGACCTCACAGATGAGT	0.423													T	34619086	C	T	34619086	2	4	27	1	0	0	0	0	0	0	0	1	7545	813	29	4		4	IFNAR2	21	34619086	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1785	34619086	13510809	8207	32158											
IFNAR2	3455	broad.mit.edu	37	chr21	34619165	34619165	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaacacaacgttgttcagtTgctcacacaatttctggctg	9	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:34619165T>C	uc002yrd.2	+	5	692	c.364T>C	c.(364-366)TGC>CGC	p.C122R	IFNAR2_uc002yrb.2_Missense_Mutation_p.C122R|IFNAR2_uc002yrc.2_Missense_Mutation_p.C122R|IFNAR2_uc002yre.2_Missense_Mutation_p.C122R|IFNAR2_uc002yrf.2_Missense_Mutation_p.C122R|IFNAR2_uc002yrg.2_5'UTR|IL10RB_uc002yrh.1_5'Flank|IL10RB_uc002yri.1_5'Flank	NM_207585	NP_997468	P48551	INAR2_HUMAN	interferon alpha/beta receptor 2 isoform a	122	Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity				0					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GTTGTTCAGTTGCTCACACAA	0.443													C	34619165	T	C	34619165	3	2	27	1	0	0	0	0	1	0	0	0	7545	1812	63	3	378	3	IFNAR2	21	34619165	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	79	34619165	13510730	8208	32159											
IL10RB	3588	broad.mit.edu	37	chr21	34660535	34660535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaaagtacgccttctcccCtaggaattctcttccacagc	6	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:34660535C>T	uc002yrk.1	+	6	872	c.773C>T	c.(772-774)CCT>CTT	p.P258L	IL10RB_uc002yrl.1_Missense_Mutation_p.P260L	NM_000628	NP_000619	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta precursor	258	Cytoplasmic (Potential).				immune response|inflammatory response	interleukin-28 receptor complex	protein binding|receptor activity				0						GCCTTCTCCCCTAGGAATTCT	0.507													T	34660535	C	T	34660535	3	4	27	1	0	0	0	0	1	0	0	0	7621	681	24	4	795	4	IL10RB	21	34660535	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	41370	34660535	13469360	8209	32160											
TMEM50B	757	broad.mit.edu	37	chr21	34837700	34837700	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcacctctcacctgagcatTggatacagcatttatcctag	6	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:34837700T>C	uc002yrt.1	-	4	407	c.229A>G	c.(229-231)AAT>GAT	p.N77D	TMEM50B_uc002yrs.1_RNA|TMEM50B_uc010gmb.1_RNA	NM_006134	NP_006125	P56557	TM50B_HUMAN	transmembrane protein 50B	77						endoplasmic reticulum|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						ACCTGAGCATTGGATACAGCA	0.353													C	34837700	T	C	34837700	3	2	27	1	0	0	0	0	1	0	0	0	16173	1812	63	3	263	3	TMEM50B	21	34837700	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	177165	34837700	13292195	8210	32161											
GART	2618	broad.mit.edu	37	chr21	34897169	34897169	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctagtcctttcttggctTcctcaagggctgatatgaga	10	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:34897169T>G	uc002yrx.2	-	11	1340	c.1205A>C	c.(1204-1206)GAA>GCA	p.E402A	GART_uc002yrz.2_Missense_Mutation_p.E402A|GART_uc010gmd.2_Missense_Mutation_p.E64A|GART_uc002yry.2_Missense_Mutation_p.E402A|GART_uc002ysa.2_Missense_Mutation_p.E402A	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	402					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)	TTTCTTGGCTTCCTCAAGGGC	0.483													G	34897169	T	G	34897169	3	3	27	1	0	0	0	0	1	0	0	0	6243	1783	62	5	1879	5	GART	21	34897169	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	59469	34897169	13232726	8211	32162											
SON	6651	broad.mit.edu	37	chr21	34923142	34923142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgacaacggcaacaggGttgctggggcagcctgaggc	18	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:34923142G>A	uc002yse.1	+	3	1654	c.1605G>A	c.(1603-1605)GGG>GGA	p.G535G	SON_uc002ysb.1_Silent_p.G535G|SON_uc002ysc.2_Silent_p.G535G|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	535					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						CGGCAACAGGGTTGCTGGGGC	0.617													A	34923142	G	A	34923142	2	1	27	1	0	0	0	0	0	0	0	1	14926	1248	44	4		4	SON	21	34923142	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	25973	34923142	13206753	8212	32163											
DONSON	29980	broad.mit.edu	37	chr21	34954363	34954363	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcactgatggcttgctcccTaggaaattgctacagttaga	9	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:34954363T>C	uc002ysk.2	-	7	1114	c.1047_splice	c.e7-1	p.E349_splice	DONSON_uc002ysi.1_Splice_Site_p.E109_splice|DONSON_uc002ysj.2_Splice_Site|DONSON_uc002ysl.2_Splice_Site|DONSON_uc010gme.2_Splice_Site_p.E322_splice|DONSON_uc002ysm.2_Splice_Site_p.E349_splice	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN	downstream neighbor of SON						multicellular organismal development	nucleus				ovary(1)|central_nervous_system(1)	2						GCTTGCTCCCTAGGAAATTGC	0.378													C	34954363	T	C	34954363	5	2	27	1	0	0	0	0	0	0	1	0	4706	1536	53	3	671	3	DONSON	21	34954363	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	31221	34954363	13175532	8213	32164											
ITSN1	6453	broad.mit.edu	37	chr21	35247781	35247781	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaggagaactctgaccggCtggagtggatccaggcccac	14	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:35247781C>A	uc002yta.1	+	34	4565	c.4297C>A	c.(4297-4299)CTG>ATG	p.L1433M	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.L1428M|ITSN1_uc002ytj.2_Intron|ITSN1_uc010gmm.1_RNA|ITSN1_uc010gmn.1_RNA|ITSN1_uc002ytk.1_RNA	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	1433					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						CTCTGACCGGCTGGAGTGGAT	0.657													A	35247781	C	A	35247781	3	1	27	1	0	0	0	0	1	0	0	0	7926	796	28	5	4433	5	ITSN1	21	35247781	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	293418	35247781	12882114	8214	32165											
SLC5A3	6526	broad.mit.edu	37	chr21	35468693	35468693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgtgtacaaacttatccGcaagagcgcaagctcccggg	11	12	0	1	rs143365196		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:35468693G>A	uc002yto.2	+	2	1708	c.1196G>A	c.(1195-1197)CGC>CAC	p.R399H	MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	solute carrier family 5 (inositol transporters),	399	Cytoplasmic (Potential).					integral to plasma membrane	myo-inositol:sodium symporter activity			ovary(2)	2						AAACTTATCCGCAAGAGCGCA	0.458													A	35468693	G	A	35468693	3	1	27	1	0	0	0	0	1	0	0	0	14666	1087	38	1	1198	1	SLC5A3	21	35468693	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	220912	35468693	12661202	8215	32166											
RUNX1	861	broad.mit.edu	37	chr21	36206799	36206799	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctgggtggtgtgggctgAccctcatggctgtgcgccgc	19	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:36206799A>G	uc002yuh.2	-	4	2210	c.632T>C	c.(631-633)GTC>GCC	p.V211A	RUNX1_uc002yui.2_Intron|RUNX1_uc010gmu.2_Missense_Mutation_p.V238A|RUNX1_uc010gmv.2_Missense_Mutation_p.V238A|RUNX1_uc002yuj.3_Missense_Mutation_p.V106A|RUNX1_uc002yuk.3_Missense_Mutation_p.V238A|RUNX1_uc002yul.1_Missense_Mutation_p.V3A|RUNX1_uc002yum.1_Intron|RUNX1_uc010gmw.1_Missense_Mutation_p.V238A|RUNX1_uc002yuo.1_Missense_Mutation_p.V211A	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	211	Pro/Ser/Thr-rich.			Missing: No DNA-binding.	myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						GTGTGGGCTGACCCTCATGGC	0.607			T	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4	AML|preB- ALL|T-ALL				Platelet_disorder_associated_with_Myeloid_Malignancies				G	36206799	A	G	36206799	3	3	27	1	0	0	0	0	1	0	0	0	13746	275	10	3	774	3	RUNX1	21	36206799	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	738106	36206799	11923096	8216	32167											
SETD4	54093	broad.mit.edu	37	chr21	37408417	37408417	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgcgcttcggtgaaatcAggtaaaagctgtttgcaaac	10	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:37408417A>G	uc002yuw.1	-	10	2694	c.1321T>C	c.(1321-1323)TGA>CGA	p.*441R	SETD4_uc002yux.1_Nonstop_Mutation_p.*417R|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Nonstop_Mutation_p.*441R	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	SET domain containing 4 isoform a	441										large_intestine(1)|ovary(1)	2						CGGTGAAATCAGGTAAAAGCT	0.433													G	37408417	A	G	37408417	4	3	27	1	0	0	0	0	0	0	0	0	14133	201	7	3	5	3	SETD4	21	37408417	Nonstop_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1201618	37408417	10721478	8217	32168											
CBR3	874	broad.mit.edu	37	chr21	37507593	37507593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttctctggggatgtggtgCtcaccgcgcgggacgtggcg	18	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:37507593C>T	uc002yve.2	+	1	331	c.103C>T	c.(103-105)CTC>TTC	p.L35F	uc002yvc.1_Intron|uc002yvd.1_Intron	NM_001236	NP_001227	O75828	CBR3_HUMAN	carbonyl reductase 3	35						cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding				0						GGATGTGGTGCTCACCGCGCG	0.711													T	37507593	C	T	37507593	3	4	27	1	0	0	0	0	1	0	0	0	2709	797	28	2	105	2	CBR3	21	37507593	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	99176	37507593	10622302	8218	32169											
DOPEY2	9980	broad.mit.edu	37	chr21	37597906	37597906	+	Frame_Shift_Del	DEL	C	C	-													tgaggaacagcgtcagccctCcccccacggtctcggagctc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:37597905_37597905TC>T	uc002yvg.3	+	11	1492	c.1413_1413TC>T	c.(1411-1413)cctfs	p.P471fs	DOPEY2_uc011aeb.2_Frame_Shift_Del_p.P471fs	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	471					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCGTCAGCCCTCCCCCCACGG	0.542													-	37597906	C	-	37597906	7	5	27	1	0	1	0	1	0	0	0	0	4708	855	30	0	1456	0	DOPEY2	21	37597906	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	90313	37597906	10531989	8219	32170											
MORC3	23515	broad.mit.edu	37	chr21	37717320	37717320	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttatgaaaaagttggatgTcagttaagggtaagctttat	11	3	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:37717320T>C	uc002yvi.2	+	8	1072	c.996T>C	c.(994-996)TGT>TGC	p.C332C		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	332					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						AAGTTGGATGTCAGTTAAGGG	0.279													C	37717320	T	C	37717320	2	2	27	1	0	0	0	0	0	0	0	1	9703	1673	58	3		3	MORC3	21	37717320	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	119414	37717320	10412575	8220	32171											
CHAF1B	8208	broad.mit.edu	37	chr21	37781130	37781130	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaagaatcttaaaaggTatgcagtcaaggaaatgttt	10	5	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:37781130T>C	uc002yvj.2	+	9	965	c.827_splice	c.e9+2	p.R276_splice		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	chromatin assembly factor 1 subunit B						cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			ovary(1)|skin(1)	2						TCTTAAAAGGTATGCAGTCAA	0.269													C	37781130	T	C	37781130	5	2	27	1	0	0	0	0	0	0	1	0	3312	1652	57	3	859	3	CHAF1B	21	37781130	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	63810	37781130	10348765	8221	32172											
HLCS	3141	broad.mit.edu	37	chr21	38309119	38309119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagacagttgtccgtccacGggtctctgagagcactgtcc	12	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:38309119G>A	uc010gnb.2	-	4	1827	c.626C>T	c.(625-627)CCG>CTG	p.P209L	HLCS_uc002yvs.2_Missense_Mutation_p.P209L|HLCS_uc010gnc.1_Missense_Mutation_p.P356L	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	209					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GTCCGTCCACGGGTCTCTGAG	0.557													A	38309119	G	A	38309119	3	1	27	1	0	0	0	0	1	0	0	0	7213	1116	39	1	1586	1	HLCS	21	38309119	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	527989	38309119	9820776	8222	32173											
TTC3	7267	broad.mit.edu	37	chr21	38460521	38460521	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacatctgcagtatatggtgTagtaaaccaatttctgtcct	8	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:38460521T>C	uc002yvz.2	+	4	318	c.213T>C	c.(211-213)TGT>TGC	p.C71C	TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Silent_p.C71C|TTC3_uc002ywb.2_Silent_p.C71C|TTC3_uc010gnf.2_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Silent_p.C71C	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	71					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				GTATATGGTGTAGTAAACCAA	0.289													C	38460521	T	C	38460521	2	2	27	1	0	0	0	0	0	0	0	1	16694	1644	57	3		3	TTC3	21	38460521	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	151402	38460521	9669374	8223	32174											
TTC3	7267	broad.mit.edu	37	chr21	38538826	38538826	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctaacagaaatgatgagcActgtggaaattctaacaaca	8	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:38538826A>G	uc002yvz.2	+	33	4415	c.4310A>G	c.(4309-4311)CAC>CGC	p.H1437R	TTC3_uc011aee.1_Missense_Mutation_p.H1127R|TTC3_uc002ywa.2_Missense_Mutation_p.H1437R|TTC3_uc002ywb.2_Missense_Mutation_p.H1437R|TTC3_uc010gnf.2_Missense_Mutation_p.H1202R|TTC3_uc002ywc.2_Missense_Mutation_p.H1127R|TTC3_uc002ywd.1_Missense_Mutation_p.H501R	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1437					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				AATGATGAGCACTGTGGAAAT	0.433													G	38538826	A	G	38538826	3	3	27	1	0	0	0	0	1	0	0	0	16694	159	6	3	4436	3	TTC3	21	38538826	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	78305	38538826	9591069	8224	32175											
TTC3	7267	broad.mit.edu	37	chr21	38570308	38570308	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accaaggggcagaaagcagaAgatgtccctgtgaggattgt	14	7	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:38570308A>T	uc002yvz.2	+	44	5937	c.5832A>T	c.(5830-5832)GAA>GAT	p.E1944D	TTC3_uc002ywa.2_Missense_Mutation_p.E1944D|TTC3_uc002ywb.2_Missense_Mutation_p.E1944D|TTC3_uc010gnf.2_Missense_Mutation_p.E1709D|TTC3_uc002ywc.2_Missense_Mutation_p.E1634D	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1944					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				AGAAAGCAGAAGATGTCCCTG	0.453													T	38570308	A	T	38570308	3	4	27	1	0	0	0	0	1	0	0	0	16694	69	3	5	6002	5	TTC3	21	38570308	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	31482	38570308	9559587	8225	32176											
DSCR4	10281	broad.mit.edu	37	chr21	39427037	39427037	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaagttggtatttccaaAtcagacattttgcccaaaat	7	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:39427037A>C	uc002ywp.2	-	3	374	c.269T>G	c.(268-270)ATT>AGT	p.I90S		NM_005867	NP_005858	P56555	DSCR4_HUMAN	Down syndrome critical region protein 4	90										ovary(1)	1						GTATTTCCAAATCAGACATTT	0.423													C	39427037	A	C	39427037	3	2	27	1	0	0	0	0	1	0	0	0	4772	101	4	5	91	5	DSCR4	21	39427037	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	856729	39427037	8702858	8226	32177											
KCNJ15	3772	broad.mit.edu	37	chr21	39671242	39671242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaagcacactgctggggCtgggctcaaggccaacagac	15	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:39671242C>T	uc002ywv.2	+	4	361	c.59C>T	c.(58-60)GCT>GTT	p.A20V	KCNJ15_uc002yww.2_Missense_Mutation_p.A20V|KCNJ15_uc002ywx.2_Missense_Mutation_p.A20V	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	20	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						ACTGCTGGGGCTGGGCTCAAG	0.527													T	39671242	C	T	39671242	3	4	27	1	0	0	0	0	1	0	0	0	8049	797	28	2	61	2	KCNJ15	21	39671242	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	244205	39671242	8458653	8227	32178											
KCNJ15	3772	broad.mit.edu	37	chr21	39671343	39671343	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctactctacctgcaagacCtgtggaccacagttatcgac	7	14	1	1	rs117438400	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:39671343C>A	uc002ywv.2	+	4	462	c.160C>A	c.(160-162)CTG>ATG	p.L54M	KCNJ15_uc002yww.2_Missense_Mutation_p.L54M|KCNJ15_uc002ywx.2_Missense_Mutation_p.L54M	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	54	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						CCTGCAAGACCTGTGGACCAC	0.498													A	39671343	C	A	39671343	3	1	27	1	0	0	0	0	1	0	0	0	8049	680	24	5	162	5	KCNJ15	21	39671343	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	101	39671343	8458552	8228	32179											
BRWD1	54014	broad.mit.edu	37	chr21	40642230	40642230	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attaagttatgaagcagttgTccagtgtaagaattccacac	8	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:40642230T>A	uc002yxk.1	-	14	1513	c.1374A>T	c.(1372-1374)GGA>GGT	p.G458G	BRWD1_uc002yxl.2_Silent_p.G458G|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Silent_p.G178G	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	458	WD 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GAAGCAGTTGTCCAGTGTAAG	0.308													A	40642230	T	A	40642230	2	1	27	1	0	0	0	0	0	0	0	1	1525	1654	58	5		5	BRWD1	21	40642230	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	970887	40642230	7487665	8229	32180											
BRWD1	54014	broad.mit.edu	37	chr21	40670420	40670420	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagaagtgactcttgaaataCtgggtggaatttctttatcc	9	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:40670420C>G	uc002yxk.1	-	5	426	c.287G>C	c.(286-288)AGT>ACT	p.S96T	BRWD1_uc002yxl.2_Missense_Mutation_p.S96T|BRWD1_uc002yxm.2_Missense_Mutation_p.S96T	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCTTGAAATACTGGGTGGAAT	0.393													G	40670420	C	G	40670420	3	3	27	1	0	0	0	0	1	0	0	0	1525	565	20	5	7080	5	BRWD1	21	40670420	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	28190	40670420	7459475	8230	32181											
IGSF5	150084	broad.mit.edu	37	chr21	41137591	41137591	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggctctcagtgacatggTggtgctaagcgtcaggccca	15	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:41137591T>C	uc002yyo.2	+	3	333	c.230T>C	c.(229-231)GTG>GCG	p.V77A		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily 5 like	77	Ig-like V-type 1.|Extracellular (Potential).					integral to membrane|tight junction					0		Prostate(19;5.35e-06)				AGTGACATGGTGGTGCTAAGC	0.587													C	41137591	T	C	41137591	3	2	27	1	0	0	0	0	1	0	0	0	7602	1696	59	3	240	3	IGSF5	21	41137591	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	467171	41137591	6992304	8231	32182											
DSCAM	1826	broad.mit.edu	37	chr21	41452117	41452117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctatgatttcacttatgCgccctgggcccactccattt	6	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:41452117C>T	uc002yyq.1	-	25	4834	c.4382G>A	c.(4381-4383)CGC>CAC	p.R1461H	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1461	Fibronectin type-III 5.|Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTCACTTATGCGCCCTGGGCC	0.468													T	41452117	C	T	41452117	3	4	27	1	0	0	0	0	1	0	0	0	4768	768	27	1	1692	1	DSCAM	21	41452117	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	314526	41452117	6677778	8232	32183											
DSCAM	1826	broad.mit.edu	37	chr21	41648131	41648131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgacatgcttgatcagcaacGacccattgctgagaacttgg	10	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:41648131G>A	uc002yyq.1	-	11	2701	c.2249C>T	c.(2248-2250)TCG>TTG	p.S750L	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	750	Extracellular (Potential).|Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GATCAGCAACGACCCATTGCT	0.527													A	41648131	G	A	41648131	3	1	27	1	0	0	0	0	1	0	0	0	4768	1059	37	1	3881	1	DSCAM	21	41648131	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	196014	41648131	6481764	8233	32184											
MX1	4599	broad.mit.edu	37	chr21	42804080	42804080	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgaatggagatgctactgTggcccagaaaaatccaggct	11	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:42804080T>C	uc002yzh.2	+	7	1030	c.83T>C	c.(82-84)GTG>GCG	p.V28A	MX1_uc002yzi.2_Missense_Mutation_p.V28A|MX1_uc010goq.2_Missense_Mutation_p.V28A	NM_001144925	NP_001138397	P20591	MX1_HUMAN	myxovirus resistance protein 1	28					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GATGCTACTGTGGCCCAGAAA	0.502													C	42804080	T	C	42804080	3	2	27	1	0	0	0	0	1	0	0	0	9997	1696	59	3	85	3	MX1	21	42804080	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1155949	42804080	5325815	8234	32185											
ZNF295	49854	broad.mit.edu	37	chr21	43412166	43412166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttaaattgagagagaaagCggtacgcttttccgcagtaa	11	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:43412166C>T	uc002zab.3	-	3	2253	c.2039G>A	c.(2038-2040)CGC>CAC	p.R680H	ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Missense_Mutation_p.R680H|ZNF295_uc002zaa.3_Missense_Mutation_p.R680H	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	680	C2H2-type 3.				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						AGAGAGAAAGCGGTACGCTTT	0.438													T	43412166	C	T	43412166	3	4	27	1	0	0	0	0	1	0	0	0	17824	768	27	1	1165	1	ZNF295	21	43412166	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	608086	43412166	4717729	8235	32186											
ZNF295	49854	broad.mit.edu	37	chr21	43413493	43413493	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaaggcaacactgcatTtcttttcaccaaactgattc	5	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:43413493T>C	uc002zab.3	-	3	926	c.712A>G	c.(712-714)AAT>GAT	p.N238D	ZNF295_uc002yzz.3_Missense_Mutation_p.N238D|ZNF295_uc002yzy.3_Missense_Mutation_p.N238D|ZNF295_uc002zaa.3_Missense_Mutation_p.N238D|ZNF295_uc010gov.1_Missense_Mutation_p.N238D|ZNF295_uc002zac.2_Missense_Mutation_p.N238D	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	238					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						AACACTGCATTTCTTTTCACC	0.428													C	43413493	T	C	43413493	3	2	27	1	0	0	0	0	1	0	0	0	17824	1841	64	3	2492	3	ZNF295	21	43413493	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1327	43413493	4716402	8236	32187											
UMODL1	89766	broad.mit.edu	37	chr21	43496156	43496156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccagctatgcagccaccGtgtgacccacactgtacaga	8	15	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:43496156G>A	uc002zaf.1	+	2	119	c.119G>A	c.(118-120)CGT>CAT	p.R40H	UMODL1_uc002zad.1_Translation_Start_Site|UMODL1_uc002zae.1_Translation_Start_Site|UMODL1_uc002zag.1_Missense_Mutation_p.R40H|uc002zah.1_RNA	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	40	Extracellular (Potential).|EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						TGCAGCCACCGTGTGACCCAC	0.597													A	43496156	G	A	43496156	3	1	27	1	0	0	0	0	1	0	0	0	16977	1145	40	1	125	1	UMODL1	21	43496156	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	82663	43496156	4633739	8237	32188											
ABCG1	9619	broad.mit.edu	37	chr21	43704740	43704740	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgctcaagggggtcgctccAtcatttgcaccatccaccag	9	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:43704740A>G	uc002zaq.2	+	7	911	c.805A>G	c.(805-807)ATC>GTC	p.I269V	ABCG1_uc002zan.2_Missense_Mutation_p.I271V|ABCG1_uc002zam.2_Missense_Mutation_p.I247V|ABCG1_uc002zao.2_Missense_Mutation_p.I266V|ABCG1_uc002zap.2_Missense_Mutation_p.I269V|ABCG1_uc002zar.2_Missense_Mutation_p.I280V|ABCG1_uc011aev.1_Missense_Mutation_p.I280V|ABCG1_uc010gpb.1_5'Flank	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	269	Cytoplasmic (Potential).|ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			ovary(2)|central_nervous_system(1)	3					Adenosine triphosphate(DB00171)	GGGTCGCTCCATCATTTGCAC	0.642													G	43704740	A	G	43704740	3	3	27	1	0	0	0	0	1	0	0	0	68	217	8	3	999	3	ABCG1	21	43704740	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	208584	43704740	4425155	8238	32189											
SLC37A1	54020	broad.mit.edu	37	chr21	43979141	43979141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaccacgtcgtcattctccCcggggacggtgggagtggca	15	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:43979141C>A	uc002zbi.2	+	12	1335	c.923C>A	c.(922-924)CCC>CAC	p.P308H	SLC37A1_uc002zbj.2_Missense_Mutation_p.P308H	NM_018964	NP_061837	P57057	GLPT_HUMAN	solute carrier family 37 member 1	308	Helical; (Potential).				carbohydrate transport|transmembrane transport	integral to membrane					0						GTCATTCTCCCCGGGGACGGT	0.577													A	43979141	C	A	43979141	3	1	27	1	0	0	0	0	1	0	0	0	14597	623	22	5	961	5	SLC37A1	21	43979141	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	274401	43979141	4150754	8239	32190											
WDR4	10785	broad.mit.edu	37	chr21	44270183	44270183	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacttagcgtcgcctccccCggtctcatcttcttggcatg	8	16	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:44270183C>T	uc002zci.2	-	11	1288	c.1215G>A	c.(1213-1215)CCG>CCA	p.P405P	WDR4_uc002zck.1_Silent_p.P405P|WDR4_uc002zcl.1_Silent_p.P259P|WDR4_uc010gpg.1_Silent_p.P404P|WDR4_uc011aew.1_Silent_p.P259P|WDR4_uc010gph.1_Silent_p.P259P	NM_033661	NP_387510	P57081	WDR4_HUMAN	WD repeat domain 4 protein	405					tRNA modification	cytoplasm|nucleoplasm	protein binding			ovary(1)	1				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		TCGCCTCCCCCGGTCTCATCT	0.572													T	44270183	C	T	44270183	2	4	27	1	0	0	0	0	0	0	0	1	17290	639	23	1		1	WDR4	21	44270183	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	291042	44270183	3859712	8240	32191											
WDR4	10785	broad.mit.edu	37	chr21	44273682	44273682	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgccgagtctcacctgCcactggtcgcccacaggcct	11	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:44273682C>T	uc002zci.2	-	9	1045	c.972G>A	c.(970-972)TGG>TGA	p.W324*	WDR4_uc002zck.1_Nonsense_Mutation_p.W324*|WDR4_uc002zcl.1_Nonsense_Mutation_p.W178*|WDR4_uc010gpg.1_Nonsense_Mutation_p.W323*|WDR4_uc011aew.1_Nonsense_Mutation_p.W178*|WDR4_uc010gph.1_Nonsense_Mutation_p.W178*	NM_033661	NP_387510	P57081	WDR4_HUMAN	WD repeat domain 4 protein	324	WD 4.				tRNA modification	cytoplasm|nucleoplasm	protein binding			ovary(1)	1				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		GTCTCACCTGCCACTGGTCGC	0.622													T	44273682	C	T	44273682	4	4	27	1	0	0	0	0	0	1	0	0	17290	740	26	2	278	2	WDR4	21	44273682	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3499	44273682	3856213	8241	32192											
CBS	875	broad.mit.edu	37	chr21	44482463	44482463	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcagcatgcgggcaaaggTgaacgcctcctcatcgttgc	12	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:44482463T>C	uc002zcu.2	-	11	1242	c.997A>G	c.(997-999)ACC>GCC	p.T333A	CBS_uc002zcs.1_Missense_Mutation_p.T228A|CBS_uc002zct.2_Missense_Mutation_p.T333A|CBS_uc002zcw.3_Missense_Mutation_p.T333A|CBS_uc002zcv.2_Missense_Mutation_p.T333A|CBS_uc002zcx.2_5'Flank	NM_000071	NP_000062	P35520	CBS_HUMAN	cystathionine-beta-synthase	333					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding				0					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CGGGCAAAGGTGAACGCCTCC	0.652													C	44482463	T	C	44482463	3	2	27	1	0	0	0	0	1	0	0	0	2711	1696	59	3	686	3	CBS	21	44482463	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	208781	44482463	3647432	8242	32193											
U2AF1	7307	broad.mit.edu	37	chr21	44515553	44515553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccctggctcctaccttgaCgtacacgttccccaccaggt	8	18	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:44515553C>T	uc002zda.1	-	5	427	c.343G>A	c.(343-345)GTC>ATC	p.V115I	U2AF1_uc002zcy.1_Missense_Mutation_p.V42I|U2AF1_uc002zcz.1_Missense_Mutation_p.V42I|U2AF1_uc002zdb.1_Missense_Mutation_p.V115I|U2AF1_uc010gpi.1_Missense_Mutation_p.V115I	NM_001025203	NP_001020374	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxillary factor 1 isoform	115	RRM.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding				0						CCTACCTTGACGTACACGTTC	0.582													T	44515553	C	T	44515553	3	4	27	1	0	0	0	0	1	0	0	0	16818	536	19	1	395	1	U2AF1	21	44515553	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	33090	44515553	3614342	8243	32194											
TRAPPC10	7109	broad.mit.edu	37	chr21	45502855	45502855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagcattgagaaaaacaGctaccggaagactgcggagt	11	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:45502855G>A	uc002zea.2	+	14	2079	c.1910G>A	c.(1909-1911)AGC>AAC	p.S637N	TRAPPC10_uc010gpo.2_Missense_Mutation_p.S348N|TRAPPC10_uc011afa.1_Missense_Mutation_p.S56N	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	637					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						GAGAAAAACAGCTACCGGAAG	0.502													A	45502855	G	A	45502855	3	1	27	1	0	0	0	0	1	0	0	0	16454	971	34	2	1964	2	TRAPPC10	21	45502855	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	987302	45502855	2627040	8244	32195											
DNMT3L	29947	broad.mit.edu	37	chr21	45668961	45668961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagcattctgcaaggatcCgccgtggacatctgggatgg	14	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:45668961C>T	uc002zeg.1	-	11	1427	c.943G>A	c.(943-945)GGA>AGA	p.G315R	DNMT3L_uc002zeh.1_Missense_Mutation_p.G315R	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	cytosine-5-methyltransferase 3-like protein	315					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			skin(2)	2				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TGCAAGGATCCGCCGTGGACA	0.632													T	45668961	C	T	45668961	3	4	27	1	0	0	0	0	1	0	0	0	4678	661	23	1	228	1	DNMT3L	21	45668961	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	166106	45668961	2460934	8245	32196											
C21orf29	54084	broad.mit.edu	37	chr21	45941774	45941774	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggggggccttaccgggaaggActggaagagctggaaggagc	20	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:45941774A>T	uc002zfe.1	-	9	1624	c.1558T>A	c.(1558-1560)TCC>ACC	p.S520T	C21orf29_uc010gpv.1_Missense_Mutation_p.S452T	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	520	EAR 5.				cell adhesion	extracellular region	structural molecule activity				0						ACCGGGAAGGACTGGAAGAGC	0.637													T	45941774	A	T	45941774	3	4	27	1	0	0	0	0	1	0	0	0	2124	275	10	5	467	5	C21orf29	21	45941774	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	272813	45941774	2188121	8246	32197											
PTTG1IP	754	broad.mit.edu	37	chr21	46276138	46276138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtatccgcctctcctccCgctcacgcatggccttctcc	7	21	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:46276138C>T	uc002zgb.1	-	4	629	c.419G>A	c.(418-420)CGG>CAG	p.R140Q	PTTG1IP_uc011afj.1_RNA|PTTG1IP_uc011afk.1_Intron	NM_004339	NP_004330	P53801	PTTG_HUMAN	pituitary tumor-transforming gene 1	140	Potential.|Cytoplasmic (Potential).				protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)	1				Colorectal(79;0.0659)		CCTCTCCTCCCGCTCACGCAT	0.617													T	46276138	C	T	46276138	3	4	27	1	0	0	0	0	1	0	0	0	12820	652	23	1	135	1	PTTG1IP	21	46276138	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	334364	46276138	1853757	8247	32198											
COL18A1	80781	broad.mit.edu	37	chr21	46888239	46888239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagacggatgaccccgacGtcgggctggcctacgtcttt	12	15	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:46888239G>A	uc011afs.1	+	2	1456	c.1435G>A	c.(1435-1437)GTC>ATC	p.V479I	COL18A1_uc002zhg.2_Missense_Mutation_p.V64I|COL18A1_uc002zhi.2_Missense_Mutation_p.V244I	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	479	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGACCCCGACGTCGGGCTGGC	0.627													A	46888239	G	A	46888239	3	1	27	1	0	0	0	0	1	0	0	0	3675	1145	40	1	1555	1	COL18A1	21	46888239	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	612101	46888239	1241656	8248	32199											
COL18A1	80781	broad.mit.edu	37	chr21	46925753	46925753	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatttggtcccagcaggTgaggctctgggctacacgcc	13	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:46925753T>G	uc011afs.1	+	37	4346	c.4325T>G	c.(4324-4326)GTG>GGG	p.V1442G	COL18A1_uc002zhg.2_Missense_Mutation_p.V1027G|COL18A1_uc002zhi.2_Missense_Mutation_p.V1207G|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_Missense_Mutation_p.V8G|COL18A1_uc002zhk.2_5'Flank	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1445	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCCCAGCAGGTGAGGCTCTGG	0.692													G	46925753	T	G	46925753	3	3	27	1	0	0	0	0	1	0	0	0	3675	1710	59	5	4585	5	COL18A1	21	46925753	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	37514	46925753	1204142	8249	32200											
PCBP3	54039	broad.mit.edu	37	chr21	47360012	47360012	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgacagatgtctggagctcaGatcaaaatcgccaacgccac	9	13	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:47360012G>A	uc002zhq.1	+	13	1103	c.978G>A	c.(976-978)CAG>CAA	p.Q326Q	PCBP3_uc002zhp.1_Silent_p.Q306Q|PCBP3_uc002zhs.1_Silent_p.Q300Q|PCBP3_uc002zhr.1_Silent_p.Q325Q|PCBP3_uc002zht.1_Silent_p.Q316Q	NM_020528	NP_065389	P57721	PCBP3_HUMAN	poly(rC) binding protein 3 isoform 1	326	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			skin(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CTGGAGCTCAGATCAAAATCG	0.517													A	47360012	G	A	47360012	2	1	27	1	0	0	0	0	0	0	0	1	11502	933	33	4		4	PCBP3	21	47360012	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	434259	47360012	769883	8250	32201											
COL6A1	1291	broad.mit.edu	37	chr21	47423316	47423316	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccccgcagtcacgttctccTccccggctgacatcaccatc	7	20	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:47423316T>C	uc002zhu.1	+	35	2578	c.2476T>C	c.(2476-2478)TCC>CCC	p.S826P	COL6A1_uc010gqd.1_Missense_Mutation_p.S157P|COL6A1_uc002zhv.1_Missense_Mutation_p.S157P|COL6A1_uc002zhw.1_5'UTR	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	826	C-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CACGTTCTCCTCCCCGGCTGA	0.672													C	47423316	T	C	47423316	3	2	27	1	0	0	0	0	1	0	0	0	3699	1551	54	3	2614	3	COL6A1	21	47423316	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	63304	47423316	706579	8251	32202											
COL6A1	1291	broad.mit.edu	37	chr21	47423435	47423435	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcacagcgggcaggacGgaccccgcccacgacgtgcg	13	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:47423435G>A	uc002zhu.1	+	35	2697	c.2595G>A	c.(2593-2595)ACG>ACA	p.T865T	COL6A1_uc010gqd.1_Silent_p.T196T|COL6A1_uc002zhv.1_Silent_p.T196T|COL6A1_uc002zhw.1_5'UTR	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	865	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CGGGCAGGACGGACCCCGCCC	0.701													A	47423435	G	A	47423435	2	1	27	1	0	0	0	0	0	0	0	1	3699	1103	39	1		1	COL6A1	21	47423435	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	119	47423435	706460	8252	32203											
COL6A2	1292	broad.mit.edu	37	chr21	47545929	47545929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtggtcatcacggacgggCgccacgaccctcgggacgat	15	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:47545929C>T	uc002zia.1	+	26	2282	c.2200C>T	c.(2200-2202)CGC>TGC	p.R734C	COL6A2_uc002zhy.1_Missense_Mutation_p.R734C|COL6A2_uc002zhz.1_Missense_Mutation_p.R734C|COL6A2_uc002zib.1_Missense_Mutation_p.R140C|COL6A2_uc002zic.1_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	734	VWFA 2.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CACGGACGGGCGCCACGACCC	0.637													T	47545929	C	T	47545929	3	4	27	1	0	0	0	0	1	0	0	0	3700	768	27	1	2298	1	COL6A2	21	47545929	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	122494	47545929	583966	8253	32204											
LSS	4047	broad.mit.edu	37	chr21	47611134	47611134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacaggacttgttgaagaCcccagcaatgttttcctaaa	9	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:47611134C>T	uc002zij.2	-	22	2162	c.2083G>A	c.(2083-2085)GTC>ATC	p.V695I	LSS_uc011afv.1_Missense_Mutation_p.V684I|LSS_uc002zil.2_Missense_Mutation_p.V695I|LSS_uc002zik.2_Missense_Mutation_p.V615I	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	695					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					TTGTTGAAGACCCCAGCAATG	0.537													T	47611134	C	T	47611134	3	4	27	1	0	0	0	0	1	0	0	0	9065	507	18	4	119	4	LSS	21	47611134	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	65205	47611134	518761	8254	32205											
DIP2A	23181	broad.mit.edu	37	chr21	47975893	47975893	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgtctcctgtttaacAgatgacatcccaaaaaagaa	8	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:47975893A>G	uc002zjo.2	+	29	3572	c.3389_splice	c.e29-2	p.D1130_splice	DIP2A_uc011afy.1_Splice_Site_p.D1066_splice|DIP2A_uc011afz.1_Splice_Site_p.D1126_splice|DIP2A_uc002zjr.2_Splice_Site_p.D97_splice	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a						multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCTGTTTAACAGATGACATCC	0.493													G	47975893	A	G	47975893	5	3	27	1	0	0	0	0	0	0	1	0	4527	202	7	3	3583	3	DIP2A	21	47975893	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	364759	47975893	154002	8255	32206											
PRMT2	3275	broad.mit.edu	37	chr21	48064237	48064237	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcagttttttgagaggagAaaaaattcttatcctgagac	9	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr21:48064237A>G	uc002zjx.2	+	5	478	c.164A>G	c.(163-165)GAA>GGA	p.E55G	PRMT2_uc002zjw.2_Missense_Mutation_p.E55G|PRMT2_uc002zjy.2_Missense_Mutation_p.E55G|PRMT2_uc010gqm.2_Missense_Mutation_p.E55G|PRMT2_uc011aga.1_Missense_Mutation_p.E55G|PRMT2_uc011agb.1_Missense_Mutation_p.E55G|PRMT2_uc011agc.1_Missense_Mutation_p.E55G|PRMT2_uc002zjz.1_5'UTR	NM_206962	NP_996845	P55345	ANM2_HUMAN	HMT1 hnRNP methyltransferase-like 1	55	SH3.				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			ovary(1)	1	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TTGAGAGGAGAAAAAATTCTT	0.428													G	48064237	A	G	48064237	3	3	27	1	0	0	0	0	1	0	0	0	12537	246	9	3	174	3	PRMT2	21	48064237	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	88344	48064237	65658	8256	32207											
GAB4	128954	broad.mit.edu	37	chr22	17449187	17449187	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggttaagccatactcaCcaggaaagaacagactccct	7	14	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:17449187C>T	uc002zlw.2	-	5	1131	c.1023_splice	c.e5+1	p.L341_splice	GAB4_uc010gqs.1_Splice_Site	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member											large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCCATACTCACCAGGAAAGAA	0.562													T	17449187	C	T	17449187	5	4	27	1	0	0	0	0	0	0	1	0	6151	521	18	4	724	4	GAB4	22	17449187	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08		17449187	33855379	8257	32208											
IL17RA	23765	broad.mit.edu	37	chr22	17581299	17581299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccaggaatatgaggtgAccgttcaccacctgcccaag	10	13	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:17581299A>G	uc002zly.2	+	5	611	c.478A>G	c.(478-480)ACC>GCC	p.T160A	IL17RA_uc010gqt.2_Missense_Mutation_p.T160A	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	160	Extracellular (Potential).				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		ATATGAGGTGACCGTTCACCA	0.532													G	17581299	A	G	17581299	3	3	27	1	0	0	0	0	1	0	0	0	7639	275	10	3	496	3	IL17RA	22	17581299	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	132112	17581299	33723267	8258	32209											
IL17RA	23765	broad.mit.edu	37	chr22	17589268	17589268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctggatcatctactcagccGaccaccccctctacgtggac	7	17	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:17589268G>A	uc002zly.2	+	13	1292	c.1159G>A	c.(1159-1161)GAC>AAC	p.D387N	IL17RA_uc010gqt.2_Missense_Mutation_p.D335N	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	387	Cytoplasmic (Potential).|SEFIR.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CTACTCAGCCGACCACCCCCT	0.617													A	17589268	G	A	17589268	3	1	27	1	0	0	0	0	1	0	0	0	7639	1058	37	1	1209	1	IL17RA	22	17589268	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	7969	17589268	33715298	8259	32210											
CECR5	27440	broad.mit.edu	37	chr22	17621952	17621952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctttgtgtcctcacctgGgcatcttggcttcagccatc	10	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:17621952G>A	uc002zmf.2	-	6	771	c.743C>T	c.(742-744)CCC>CTC	p.P248L	CECR5_uc002zmd.2_Missense_Mutation_p.P59L|CECR5_uc002zme.2_Missense_Mutation_p.P40L|CECR5_uc002zmg.2_Missense_Mutation_p.P111L|CECR5_uc002zmh.2_Missense_Mutation_p.P218L	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	248							hydrolase activity				0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				TCCTCACCTGGGCATCTTGGC	0.637													A	17621952	G	A	17621952	3	1	27	1	0	0	0	0	1	0	0	0	3207	1232	43	4	540	4	CECR5	22	17621952	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	32684	17621952	33682614	8260	32211											
BCL2L13	23786	broad.mit.edu	37	chr22	18171803	18171803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccagtgttcagccctgCcaatccagaaagctcaatgg	8	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:18171803C>T	uc002zmw.2	+	4	499	c.281C>T	c.(280-282)GCC>GTC	p.A94V	BCL2L13_uc002zmu.2_Missense_Mutation_p.A94V|BCL2L13_uc002zmv.2_Missense_Mutation_p.A94V|BCL2L13_uc002zmx.2_Intron|BCL2L13_uc002zmy.2_Missense_Mutation_p.A94V|BCL2L13_uc010gqy.2_Intron|BCL2L13_uc011agk.1_Intron|BCL2L13_uc010gqz.2_5'UTR|BCL2L13_uc002zmz.2_5'UTR	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	94					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)		TTCAGCCCTGCCAATCCAGAA	0.438													T	18171803	C	T	18171803	3	4	27	1	0	0	0	0	1	0	0	0	1371	739	26	2	291	2	BCL2L13	22	18171803	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	549851	18171803	33132763	8261	32212											
MICAL3	57553	broad.mit.edu	37	chr22	18304816	18304816	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctctctcttggtgcttcggtGaggcgggcagcttctcctca	12	13	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:18304816G>A	uc002zng.3	-	24	3781	c.3428C>T	c.(3427-3429)TCA>TTA	p.S1143L	MICAL3_uc011agl.1_Missense_Mutation_p.S1059L	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1143	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		GTGCTTCGGTGAGGCGGGCAG	0.582													A	18304816	G	A	18304816	3	1	27	1	0	0	0	0	1	0	0	0	9571	1294	45	4	2616	4	MICAL3	22	18304816	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	133013	18304816	32999750	8262	32213											
MICAL3	57553	broad.mit.edu	37	chr22	18387532	18387532	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catctcgtttctcaataacaAccaccttggcccccagtaag	5	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:18387532A>C	uc002zng.3	-	3	691	c.338T>G	c.(337-339)GTT>GGT	p.V113G	MICAL3_uc011agl.1_Missense_Mutation_p.V113G|MICAL3_uc002znh.2_Missense_Mutation_p.V113G|MICAL3_uc002znj.1_5'Flank|MICAL3_uc002znk.1_Missense_Mutation_p.V113G|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Missense_Mutation_p.V113G|MICAL3_uc011agm.1_Missense_Mutation_p.V113G	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	113	FAD (Potential).					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		CTCAATAACAACCACCTTGGC	0.512													C	18387532	A	C	18387532	3	2	27	1	0	0	0	0	1	0	0	0	9571	43	2	5	6527	5	MICAL3	22	18387532	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	82716	18387532	32917034	8263	32214											
DGCR2	9993	broad.mit.edu	37	chr22	19076920	19076920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctcatcctcgcaagtcgCccagccgtcacactgccagg	9	18	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:19076920C>T	uc002zoq.1	-	2	411	c.163G>A	c.(163-165)GCG>ACG	p.A55T	DGCR2_uc002zor.1_5'UTR|DGCR2_uc011agr.1_Intron	NM_005137	NP_005128	P98153	IDD_HUMAN	integral membrane protein DGCR2 precursor	55	Extracellular (Potential).|LDL-receptor class A.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			large_intestine(1)	1	Colorectal(54;0.0993)					TCGCAAGTCGCCCAGCCGTCA	0.607													T	19076920	C	T	19076920	3	4	27	1	0	0	0	0	1	0	0	0	4461	739	26	2	1525	2	DGCR2	22	19076920	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	689388	19076920	32227646	8264	32215											
HIRA	7290	broad.mit.edu	37	chr22	19341549	19341549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctggattatggctaacGgtcctgagcacagcatggcg	14	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:19341549G>A	uc002zpf.1	-	22	2874	c.2654C>T	c.(2653-2655)CCG>CTG	p.P885L	HIRA_uc011agx.1_Missense_Mutation_p.P751L|HIRA_uc010grn.1_Missense_Mutation_p.P678L|HIRA_uc010gro.1_Missense_Mutation_p.P841L|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	885	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					TATGGCTAACGGTCCTGAGCA	0.597													A	19341549	G	A	19341549	3	1	27	1	0	0	0	0	1	0	0	0	7120	1116	39	1	415	1	HIRA	22	19341549	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	264629	19341549	31963017	8265	32216											
TXNRD2	10587	broad.mit.edu	37	chr22	19898959	19898959	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgtgattccatattccaaGgcaccttcgatctgtcaaga	7	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:19898959G>T	uc011ahc.1	-	8	636	c.603C>A	c.(601-603)GCC>GCA	p.A201A	TXNRD2_uc002zql.1_5'UTR|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Silent_p.A200A|TXNRD2_uc010grv.1_Silent_p.A201A|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqs.2_Silent_p.A169A	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2 precursor	201					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			ovary(2)	2	Colorectal(54;0.0993)					CATATTCCAAGGCACCTTCGA	0.493													T	19898959	G	T	19898959	2	4	27	1	0	0	0	0	0	0	0	1	16805	987	35	5		5	TXNRD2	22	19898959	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	557410	19898959	31405607	8266	32217											
ARVCF	421	broad.mit.edu	37	chr22	19960547	19960547	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgacgccgccttcgcttcGcgtaccgattggctgtgggg	15	12	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:19960547G>A	uc002zqz.2	-	15	2722	c.2451C>T	c.(2449-2451)CGC>CGT	p.R817R	ARVCF_uc002zqy.2_Silent_p.R333R	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	817	ARM 10.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					CCTTCGCTTCGCGTACCGATT	0.682													A	19960547	G	A	19960547	2	1	27	1	0	0	0	0	0	0	0	1	1003	1074	38	1		1	ARVCF	22	19960547	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	61588	19960547	31344019	8267	32218											
ZNF74	7625	broad.mit.edu	37	chr22	20760242	20760242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagaagcccttcttctgcGgcgagtgcgggaaggccttc	15	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:20760242G>A	uc010gsm.2	+	6	1131	c.919G>A	c.(919-921)GGC>AGC	p.G307S	ZNF74_uc002zsg.2_Missense_Mutation_p.G236S|ZNF74_uc002zsh.2_Missense_Mutation_p.G307S|ZNF74_uc002zsi.2_Missense_Mutation_p.G236S|ZNF74_uc010gsn.2_Missense_Mutation_p.G236S	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	307	C2H2-type 3.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CTTCTTCTGCGGCGAGTGCGG	0.642													A	20760242	G	A	20760242	3	1	27	1	0	0	0	0	1	0	0	0	18124	1116	39	1	937	1	ZNF74	22	20760242	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	799695	20760242	30544324	8268	32219											
KLHL22	84861	broad.mit.edu	37	chr22	20800921	20800921	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctctgcggccgcaggtgaTatacatcttcccctccagcg	9	17	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:20800921T>C	uc002zsl.1	-	6	1457	c.1348A>G	c.(1348-1350)ATC>GTC	p.I450V	KLHL22_uc011ahr.1_Missense_Mutation_p.I307V	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	450	Kelch 4.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCGCAGGTGATATACATCTTC	0.612													C	20800921	T	C	20800921	3	2	27	1	0	0	0	0	1	0	0	0	8377	1406	49	3	564	3	KLHL22	22	20800921	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	40679	20800921	30503645	8269	32220											
KLHL22	84861	broad.mit.edu	37	chr22	20800941	20800941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatacatcttcccctccagcGtcgcgcctgcgtgggcatac	9	16	1	0	rs147687020	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:20800941G>A	uc002zsl.1	-	6	1437	c.1328C>T	c.(1327-1329)ACG>ATG	p.T443M	KLHL22_uc011ahr.1_Missense_Mutation_p.T300M	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	443	Kelch 3.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCCCTCCAGCGTCGCGCCTGC	0.587													A	20800941	G	A	20800941	3	1	27	1	0	0	0	0	1	0	0	0	8377	1145	40	1	584	1	KLHL22	22	20800941	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	20	20800941	30503625	8270	32221											
PI4KA	5297	broad.mit.edu	37	chr22	21156280	21156280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcagatgttgtcaatagCgatgtctcggagctgctcgt	12	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:21156280C>T	uc002zsz.3	-	14	1762	c.1531G>A	c.(1531-1533)GCT>ACT	p.A511T	PI4KA_uc010gsq.1_Missense_Mutation_p.A569T	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	511					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TTGTCAATAGCGATGTCTCGG	0.478													T	21156280	C	T	21156280	3	4	27	1	0	0	0	0	1	0	0	0	11873	768	27	1	4771	1	PI4KA	22	21156280	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	355339	21156280	30148286	8271	32222											
CRKL	1399	broad.mit.edu	37	chr22	21288079	21288079	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcttaaggtatccaagcccAccaatgggatctgtctcagc	8	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:21288079A>T	uc002ztf.2	+	2	833	c.324A>T	c.(322-324)CCA>CCT	p.P108P	CRKL_uc002ztg.1_RNA	NM_005207	NP_005198	P46109	CRKL_HUMAN	v-crk sarcoma virus CT10 oncogene homolog	108					JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity				0	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			ATCCAAGCCCACCAATGGGAT	0.428													T	21288079	A	T	21288079	2	4	27	1	0	0	0	0	0	0	0	1	3885	146	6	5		5	CRKL	22	21288079	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	131799	21288079	30016487	8272	32223											
HIC2	23119	broad.mit.edu	37	chr22	21800343	21800343	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtggggctggccctagcgggCcctatggggagcccccctac	16	15	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:21800343C>G	uc002zur.3	+	3	1389	c.1159C>G	c.(1159-1161)CCC>GCC	p.P387A	HIC2_uc002zus.3_Missense_Mutation_p.P387A	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	387					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CCCTAGCGGGCCCTATGGGGA	0.687													G	21800343	C	G	21800343	3	3	27	1	0	0	0	0	1	0	0	0	7102	739	26	5	1165	5	HIC2	22	21800343	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	512264	21800343	29504223	8273	32224											
CCDC116	164592	broad.mit.edu	37	chr22	21991211	21991211	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggagcccaagctctacaTgtctgcctgcaccggcatgg	11	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:21991211T>C	uc002zve.2	+	5	1787	c.1694T>C	c.(1693-1695)ATG>ACG	p.M565T		NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(1)|skin(1)	2	Colorectal(54;0.105)					AAGCTCTACATGTCTGCCTGC	0.577													C	21991211	T	C	21991211	3	2	27	1	0	0	0	0	1	0	0	0	2753	1464	51	3	1708	3	CCDC116	22	21991211	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	190868	21991211	29313355	8274	32225											
TOP3B	8940	broad.mit.edu	37	chr22	22316889	22316889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctccagcatcttcacctcGcccacagggaaggcatcacc	7	17	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:22316889G>A	uc002zvs.2	-	13	1872	c.1437C>T	c.(1435-1437)GGC>GGT	p.G479G	TOP3B_uc010gtm.1_Silent_p.G24G|TOP3B_uc002zvr.2_Silent_p.G204G|TOP3B_uc010gtl.2_Silent_p.G479G|TOP3B_uc002zvt.3_Silent_p.G479G	NM_003935	NP_003926	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	479					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			kidney(1)	1	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TCTTCACCTCGCCCACAGGGA	0.637													A	22316889	G	A	22316889	2	1	27	1	0	0	0	0	0	0	0	1	16365	1074	38	1		1	TOP3B	22	22316889	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	325678	22316889	28987677	8275	32226											
GNAZ	2781	broad.mit.edu	37	chr22	23438549	23438549	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgagggcgtcacagccatcAtcttctgtgtggagctcagc	12	12	5	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:23438549A>G	uc002zwu.1	+	2	1204	c.667A>G	c.(667-669)ATC>GTC	p.I223V	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	223						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CACAGCCATCATCTTCTGTGT	0.562													G	23438549	A	G	23438549	3	3	27	1	0	0	0	0	1	0	0	0	6514	217	8	3	669	3	GNAZ	22	23438549	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1121660	23438549	27866017	8276	32227											
GNAZ	2781	broad.mit.edu	37	chr22	23465488	23465488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtttgaagacctgaaccGcaacaaggagaccaaggaga	12	9	0	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:23465488G>A	uc002zwu.1	+	3	1475	c.938G>A	c.(937-939)CGC>CAC	p.R313H	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	313						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GACCTGAACCGCAACAAGGAG	0.567													A	23465488	G	A	23465488	3	1	27	1	0	0	0	0	1	0	0	0	6514	1087	38	1	944	1	GNAZ	22	23465488	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	26939	23465488	27839078	8277	32228											
SMARCB1	6598	broad.mit.edu	37	chr22	24143232	24143232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaaccatcaacaggaaccGcatgggccgagacaagaaga	10	12	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:24143232G>A	uc002zyb.2	+	4	671	c.464G>A	c.(463-465)CGC>CAC	p.R155H	SMARCB1_uc002zyg.2_Missense_Mutation_p.R155H|SMARCB1_uc011ajb.1_Missense_Mutation_p.R146H|SMARCB1_uc002zya.2_Missense_Mutation_p.R155H|SMARCB1_uc002zyc.2_Missense_Mutation_p.R146H|SMARCB1_uc002zyd.2_Missense_Mutation_p.R146H|SMARCB1_uc002zye.1_Intron|SMARCB1_uc002zyf.1_Intron|SMARCB1_uc010gue.1_Intron	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	155	DNA-binding (Potential).				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(5)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				AACAGGAACCGCATGGGCCGA	0.572			D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis				A	24143232	G	A	24143232	3	1	27	1	0	0	0	0	1	0	0	0	14774	1087	38	1	478	1	SMARCB1	22	24143232	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	677744	24143232	27161334	8278	32229											
CABIN1	23523	broad.mit.edu	37	chr22	24459471	24459471	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatggcagatttggaccTgacttcccagggacccactg	12	11	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:24459471T>C	uc002zzi.1	+	14	1873	c.1746T>C	c.(1744-1746)CCT>CCC	p.P582P	CABIN1_uc002zzj.1_Silent_p.P532P|CABIN1_uc002zzl.1_Silent_p.P582P	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	582					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GATTTGGACCTGACTTCCCAG	0.542													C	24459471	T	C	24459471	2	2	27	1	0	0	0	0	0	0	0	1	2528	1567	55	3		3	CABIN1	22	24459471	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	316239	24459471	26845095	8279	32230											
SUSD2	56241	broad.mit.edu	37	chr22	24580778	24580778	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaagtggtcgtacctgTaccccctggccacacacatc	8	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:24580778T>C	uc002zzn.1	+	5	696	c.652T>C	c.(652-654)TAC>CAC	p.Y218H		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	218	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						GTCGTACCTGTACCCCCTGGC	0.602													C	24580778	T	C	24580778	3	2	27	1	0	0	0	0	1	0	0	0	15405	1638	57	3	670	3	SUSD2	22	24580778	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	121307	24580778	26723788	8280	32231											
SUSD2	56241	broad.mit.edu	37	chr22	24580867	24580867	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccagagatggcgagtgggTgcacttcggatcatcgacag	14	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:24580867T>C	uc002zzn.1	+	5	785	c.741T>C	c.(739-741)GGT>GGC	p.G247G		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	247	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						GGCGAGTGGGTGCACTTCGGA	0.587													C	24580867	T	C	24580867	2	2	27	1	0	0	0	0	0	0	0	1	15405	1683	59	3		3	SUSD2	22	24580867	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	89	24580867	26723699	8281	32232											
CYTSA	23384	broad.mit.edu	37	chr22	24717913	24717913	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggctctgcccctggctcagTggaggatctcttgagtcagg	14	11	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:24717913T>C	uc002zzw.2	+	5	1272	c.965T>C	c.(964-966)GTG>GCG	p.V322A	CYTSA_uc002zzv.3_Missense_Mutation_p.V322A|CYTSA_uc011ajq.1_Missense_Mutation_p.V322A	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	322					cell cycle|cell division						0						CCTGGCTCAGTGGAGGATCTC	0.507													C	24717913	T	C	24717913	3	2	27	1	0	0	0	0	1	0	0	0	4209	1696	59	3	975	3	CYTSA	22	24717913	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	137046	24717913	26586653	8282	32233											
SNRPD3	6634	broad.mit.edu	37	chr22	24953712	24953712	+	Frame_Shift_Del	DEL	A	A	-													ttgtgacatgtgagacgaacAccggtgaggtatatcggggg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:24953711_24953711CA>C	uc003aam.1	+	1	509	c.69_69CA>C	c.(67-69)aacfs	p.N23fs	C22orf13_uc003aah.2_5'Flank|C22orf13_uc003aal.2_5'Flank|C22orf13_uc003aai.4_5'Flank|C22orf13_uc003aaj.4_5'Flank|C22orf13_uc003aak.4_5'Flank|SNRPD3_uc011aju.2_Frame_Shift_Del_p.N23fs	NM_004175	NP_004166	P62318	SMD3_HUMAN	Homo sapiens small nuclear ribonucleoprotein D3 polypeptide 18kDa (SNRPD3), mRNA.	23					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	enzyme binding|histone pre-mRNA DCP binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						GTGAGACGAACACCGGTGAGG	0.507													-	24953712	A	-	24953712	7	5	27	1	0	1	0	1	0	0	0	0	14866	159	6	0	72	0	SNRPD3	22	24953712	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	235799	24953712	26350854	8283	32234											
ADRBK2	157	broad.mit.edu	37	chr22	26070497	26070497	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcagacactggaaaaatgTaagctttcaatgctcttatg	8	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:26070497T>C	uc003abx.3	+	8	794	c.647_splice	c.e8+2	p.M216_splice	ADRBK2_uc010gux.2_Splice_Site_p.M216_splice|ADRBK2_uc003abw.2_Splice_Site_p.M103_splice|ADRBK2_uc003aby.3_Splice_Site	NM_005160	NP_005151	P35626	ARBK2_HUMAN	beta-adrenergic receptor kinase 2								ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7					Adenosine triphosphate(DB00171)	TGGAAAAATGTAAGCTTTCAA	0.358													C	26070497	T	C	26070497	5	2	27	1	0	0	0	0	0	0	1	0	344	1652	57	3	679	3	ADRBK2	22	26070497	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1116785	26070497	25234069	8284	32235											
MYO18B	84700	broad.mit.edu	37	chr22	26219495	26219495	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcggaagcagttcatgaggTttgagtgggcaaactacgca	14	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:26219495T>A	uc003abz.1	+	13	2795	c.2545T>A	c.(2545-2547)TTT>ATT	p.F849I	MYO18B_uc003aca.1_Missense_Mutation_p.F730I|MYO18B_uc010guy.1_Missense_Mutation_p.F730I|MYO18B_uc010guz.1_Missense_Mutation_p.F730I|MYO18B_uc011aka.1_Missense_Mutation_p.F3I|MYO18B_uc011akb.1_Missense_Mutation_p.F362I	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	849	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						GTTCATGAGGTTTGAGTGGGC	0.572													A	26219495	T	A	26219495	3	1	27	1	0	0	0	0	1	0	0	0	10066	1725	60	5	2591	5	MYO18B	22	26219495	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	148998	26219495	25085071	8285	32236											
HPS4	89781	broad.mit.edu	37	chr22	26860374	26860374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttccaggctgctggaggCgctgagagatgccttgcagt	17	9	0	2	rs143711674	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:26860374C>T	uc003acl.2	-	11	1881	c.1222G>A	c.(1222-1224)GCC>ACC	p.A408T	HPS4_uc003aci.2_Missense_Mutation_p.A403T|HPS4_uc003acj.2_Missense_Mutation_p.A272T|HPS4_uc003ack.2_Missense_Mutation_p.A199T|HPS4_uc003acn.2_Missense_Mutation_p.A254T|HPS4_uc010gvd.1_Missense_Mutation_p.A426T|HPS4_uc003ach.2_Missense_Mutation_p.A143T	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	408					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0						CTGCTGGAGGCGCTGAGAGAT	0.592									Hermansky-Pudlak_syndrome				T	26860374	C	T	26860374	3	4	27	1	0	0	0	0	1	0	0	0	7341	768	27	1	920	1	HPS4	22	26860374	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	640879	26860374	24444192	8286	32237											
PITPNB	23760	broad.mit.edu	37	chr22	28256181	28256181	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgaatttgatggtcaccaGcttataggcacacatctggg	10	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:28256181G>T	uc003adk.2	-	9	659	c.583C>A	c.(583-585)CTG>ATG	p.L195M	PITPNB_uc011akh.1_Missense_Mutation_p.L197M|PITPNB_uc003adl.2_Missense_Mutation_p.L195M|PITPNB_uc011akg.1_5'Flank	NM_012399	NP_036531	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	195					lipid metabolic process|transport	Golgi apparatus	lipid binding			skin(1)	1						ATGGTCACCAGCTTATAGGCA	0.378													T	28256181	G	T	28256181	3	4	27	1	0	0	0	0	1	0	0	0	11948	962	34	5	244	5	PITPNB	22	28256181	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1395807	28256181	23048385	8287	32238											
PITPNB	23760	broad.mit.edu	37	chr22	28293787	28293787	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgggggccaagcttActtgttctacagtaggggta	15	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:28293787A>G	uc003adk.2	-	4	365	c.289_splice	c.e4+1	p.I97_splice	PITPNB_uc011akh.1_Splice_Site_p.I99_splice|PITPNB_uc003adl.2_Splice_Site_p.I97_splice	NM_012399	NP_036531	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta						lipid metabolic process|transport	Golgi apparatus	lipid binding			skin(1)	1						GGCCAAGCTTACTTGTTCTAC	0.532													G	28293787	A	G	28293787	5	3	27	1	0	0	0	0	0	0	1	0	11948	405	14	3	556	3	PITPNB	22	28293787	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	37606	28293787	23010779	8288	32239											
HSCB	150274	broad.mit.edu	37	chr22	29141962	29141962	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcagaagctgaaagtgaAgctgccatgaaagagattga	12	7	0	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:29141962A>G	uc003aea.2	+	4	575	c.534A>G	c.(532-534)GAA>GAG	p.E178E		NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN	J-type co-chaperone HSC20 precursor	178					iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)	1						CTGAAAGTGAAGCTGCCATGA	0.358													G	29141962	A	G	29141962	2	3	27	1	0	0	0	0	0	0	0	1	7374	69	3	3		3	HSCB	22	29141962	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	848175	29141962	22162604	8289	32240											
XBP1	7494	broad.mit.edu	37	chr22	29193152	29193152	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaactacaaggccatgagtTttctctcgtaaaagctgatt	7	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:29193152T>C	uc011akl.1	-	3	414	c.366A>G	c.(364-366)AAA>AAG	p.K122K	XBP1_uc003aec.2_5'Flank|XBP1_uc003aed.2_Silent_p.K72K|XBP1_uc003aef.2_5'UTR	NM_001079539	NP_001073007	P17861	XBP1_HUMAN	X-box binding protein 1 isoform XBP1(S)	122	Leucine-zipper.				immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						GGCCATGAGTTTTCTCTCGTA	0.413													C	29193152	T	C	29193152	2	2	27	1	0	0	0	0	0	0	0	1	17419	1838	64	3		3	XBP1	22	29193152	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	51190	29193152	22111414	8290	32241											
ZNRF3	84133	broad.mit.edu	37	chr22	29445922	29445922	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgtacgggagctgctccAccttccgcagctccctcagc	11	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:29445922A>G	uc003aeg.2	+	8	1618	c.1453A>G	c.(1453-1455)ACC>GCC	p.T485A	ZNRF3_uc003aeh.1_Missense_Mutation_p.T485A	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	585	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1						GAGCTGCTCCACCTTCCGCAG	0.612													G	29445922	A	G	29445922	3	3	27	1	0	0	0	0	1	0	0	0	18210	159	6	3	1479	3	ZNRF3	22	29445922	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	252770	29445922	21858644	8291	32242											
KREMEN1	83999	broad.mit.edu	37	chr22	29534823	29534823	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagccacagagttgaaggTagcgctcttgacagttataa	12	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:29534823T>C	uc011akm.1	+	7	1187	c.1174_splice	c.e7+2	p.G392_splice	KREMEN1_uc003ael.2_Intron|KREMEN1_uc011akn.1_Splice_Site_p.G275_splice	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	kringle-containing transmembrane protein 1						cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			ovary(3)|lung(2)	5						GAGTTGAAGGTAGCGCTCTTG	0.527													C	29534823	T	C	29534823	5	2	27	1	0	0	0	0	0	0	1	0	8442	1652	57	3	1202	3	KREMEN1	22	29534823	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	88901	29534823	21769743	8292	32243											
EWSR1	2130	broad.mit.edu	37	chr22	29683072	29683072	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccccaaactggatcctacAgccaagctccaagtcaatat	5	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:29683072A>G	uc003aet.2	+	7	1070	c.742A>G	c.(742-744)AGC>GGC	p.S248G	EWSR1_uc003aes.3_Missense_Mutation_p.S248G|EWSR1_uc003aev.2_Missense_Mutation_p.S254G|EWSR1_uc003aew.2_Missense_Mutation_p.S192G|EWSR1_uc003aex.2_Missense_Mutation_p.S248G|EWSR1_uc003aey.2_Missense_Mutation_p.S43G|EWSR1_uc003aez.2_5'Flank	NM_005243	NP_005234	Q01844	EWS_HUMAN	Ewing sarcoma breakpoint region 1 isoform 2	248	28.|EAD (Gln/Pro/Thr-rich).|31 X approximate tandem repeats.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254						TGGATCCTACAGCCAAGCTCC	0.493			T	FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1	Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma								G	29683072	A	G	29683072	3	3	27	1	0	0	0	0	1	0	0	0	5296	188	7	3	790	3	EWSR1	22	29683072	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	148249	29683072	21621494	8293	32244											
AP1B1	162	broad.mit.edu	37	chr22	29735105	29735105	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgctgttggaggtgccacGaagttggtgcccccaatctg	14	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:29735105G>A	uc003afj.2	-	16	2221	c.2037C>T	c.(2035-2037)TTC>TTT	p.F679F	AP1B1_uc003afi.2_Silent_p.F672F|AP1B1_uc003afk.2_Silent_p.F672F|AP1B1_uc003afl.2_Silent_p.F672F|AP1B1_uc011ako.1_Silent_p.F232F	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	679	Pro-rich (stalk region).				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						GAGGTGCCACGAAGTTGGTGC	0.587													A	29735105	G	A	29735105	2	1	27	1	0	0	0	0	0	0	0	1	731	1049	37	1		1	AP1B1	22	29735105	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	52033	29735105	21569461	8294	32245											
THOC5	8563	broad.mit.edu	37	chr22	29921862	29921862	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgatcagctccatggcagtTgtcactttggcttttactgt	10	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:29921862T>C	uc003afr.2	-	13	1475	c.1140A>G	c.(1138-1140)ACA>ACG	p.T380T	THOC5_uc003afq.2_Silent_p.T41T|THOC5_uc003afs.2_Silent_p.T380T|THOC5_uc003aft.2_Silent_p.T380T|THOC5_uc003afu.2_Silent_p.T380T|THOC5_uc010gvo.2_Silent_p.T124T	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN	THO complex 5	380			T -> K (in a breast cancer sample; somatic mutation).		intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	p.T380K(1)		breast(3)	3						CCATGGCAGTTGTCACTTTGG	0.517													C	29921862	T	C	29921862	2	2	27	1	0	0	0	0	0	0	0	1	15865	1799	63	3		3	THOC5	22	29921862	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	186757	29921862	21382704	8295	32246											
NF2	4771	broad.mit.edu	37	chr22	30038225	30038225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttagatgaaaagatctactGccctcctgaggcttctgtgc	9	10	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:30038225G>A	uc003age.3	+	4	841	c.398G>A	c.(397-399)TGC>TAC	p.C133Y	NF2_uc003afy.3_Missense_Mutation_p.C133Y|NF2_uc003afz.3_Missense_Mutation_p.C50Y|NF2_uc003agf.3_Missense_Mutation_p.C133Y|NF2_uc003agb.3_Missense_Mutation_p.C56Y|NF2_uc003agc.3_Missense_Mutation_p.C95Y|NF2_uc003agd.3_RNA|NF2_uc003agg.3_Missense_Mutation_p.C133Y|NF2_uc003aga.3_Missense_Mutation_p.C91Y|NF2_uc003agh.3_Missense_Mutation_p.C92Y|NF2_uc003agi.3_Missense_Mutation_p.C50Y|NF2_uc003agj.3_Missense_Mutation_p.C133Y|NF2_uc003agk.3_Missense_Mutation_p.C95Y	NM_000268	NP_000259	P35240	MERL_HUMAN	neurofibromin 2 isoform 1	133	FERM.		C -> R (in NF2).		actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.V122_K149del(5)|p.L127_D382del(1)|p.L127_P134del(1)|p.K123fs*2(1)|p.V110_L141del(1)		meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1)	728						AAGATCTACTGCCCTCCTGAG	0.463			D|Mis|N|F|S|O		meningioma|acoustic neuroma|renal 	meningioma|acoustic neuroma			Neurofibromatosis_type_2				A	30038225	G	A	30038225	3	1	27	1	0	0	0	0	1	0	0	0	10357	1319	46	2	412	2	NF2	22	30038225	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	116363	30038225	21266341	8296	32247											
ASCC2	84164	broad.mit.edu	37	chr22	30185132	30185132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcggctctgcccatggcctCgggggctgccggccactgct	15	17	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:30185132C>T	uc003agr.2	-	20	2249	c.2144G>A	c.(2143-2145)CGA>CAA	p.R715Q	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.R715Q|ASCC2_uc011akr.1_Missense_Mutation_p.R639Q	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	715					regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CCCATGGCCTCGGGGGCTGCC	0.642													T	30185132	C	T	30185132	3	4	27	1	0	0	0	0	1	0	0	0	1032	884	31	1	133	1	ASCC2	22	30185132	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	146907	30185132	21119434	8297	32248											
SF3A1	10291	broad.mit.edu	37	chr22	30730630	30730630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggccaggtggatgactgCgccattggccatgttgtagt	16	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:30730630C>T	uc003ahl.2	-	16	2467	c.2335G>A	c.(2335-2337)GCA>ACA	p.A779T		NM_005877	NP_005868	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa isoform 1	779	Ubiquitin-like.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			ovary(3)|large_intestine(1)|pancreas(1)	5						TGGATGACTGCGCCATTGGCC	0.542													T	30730630	C	T	30730630	3	4	27	1	0	0	0	0	1	0	0	0	14146	768	27	1	50	1	SF3A1	22	30730630	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	545498	30730630	20573936	8298	32249											
SF3A1	10291	broad.mit.edu	37	chr22	30738209	30738209	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgctcattgggttggaagTccactgtttccaccaccaca	8	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:30738209T>C	uc003ahl.2	-	6	989	c.857A>G	c.(856-858)GAC>GGC	p.D286G		NM_005877	NP_005868	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa isoform 1	286					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			ovary(3)|large_intestine(1)|pancreas(1)	5						GGGTTGGAAGTCCACTGTTTC	0.463													C	30738209	T	C	30738209	3	2	27	1	0	0	0	0	1	0	0	0	14146	1667	58	3	1568	3	SF3A1	22	30738209	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	7579	30738209	20566357	8299	32250											
RNF215	200312	broad.mit.edu	37	chr22	30781958	30781958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacgatcactggcctgagCagaagctgggatatgtccag	14	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:30781958C>T	uc003ahp.2	-	4	522	c.522G>A	c.(520-522)CTG>CTA	p.L174L	RNF215_uc011akw.1_Silent_p.L79L	NM_001017981	NP_001017981	Q9Y6U7	RN215_HUMAN	ring finger protein 215	174	Extracellular (Potential).					integral to membrane	zinc ion binding			central_nervous_system(1)	1						CTGGCCTGAGCAGAAGCTGGG	0.542													T	30781958	C	T	30781958	2	4	27	1	0	0	0	0	0	0	0	1	13479	697	25	2		2	RNF215	22	30781958	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	43749	30781958	20522608	8300	32251											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951749	30951749	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgatgaagatggcgttggTcggcaccaggccgcgcacct	15	12	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:30951749T>C	uc003aig.1	-	4	603	c.463A>G	c.(463-465)ACC>GCC	p.T155A	GAL3ST1_uc003aih.1_Missense_Mutation_p.T155A|GAL3ST1_uc003aii.1_Missense_Mutation_p.T155A|GAL3ST1_uc010gvz.1_Missense_Mutation_p.T155A	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	155	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						ATGGCGTTGGTCGGCACCAGG	0.657													C	30951749	T	C	30951749	3	2	27	1	0	0	0	0	1	0	0	0	6197	1667	58	3	812	3	GAL3ST1	22	30951749	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	169791	30951749	20352817	8301	32252											
OSBP2	23762	broad.mit.edu	37	chr22	31091460	31091460	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacagcttcgagggctgGcttctcaagtggaccaacta	12	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:31091460G>A	uc003aiy.1	+	1	668	c.564G>A	c.(562-564)TGG>TGA	p.W188*	OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc003aix.1_Nonsense_Mutation_p.W188*|OSBP2_uc011alb.1_Nonsense_Mutation_p.W188*|OSBP2_uc003aiz.1_Nonsense_Mutation_p.W188*	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	188	PH.				lipid transport	membrane	lipid binding			breast(1)|skin(1)	2						TCGAGGGCTGGCTTCTCAAGT	0.597													A	31091460	G	A	31091460	4	1	27	1	0	0	0	0	0	1	0	0	11274	1212	42	2	566	2	OSBP2	22	31091460	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	139711	31091460	20213106	8302	32253											
MORC2	22880	broad.mit.edu	37	chr22	31328629	31328629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcggaagtggagggctctgCgacagctatggcctgctggg	17	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:31328629C>T	uc003aje.1	-	24	3828	c.2464G>A	c.(2464-2466)GCA>ACA	p.A822T		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	884							ATP binding|zinc ion binding			ovary(1)|pancreas(1)	2						GAGGGCTCTGCGACAGCTATG	0.607													T	31328629	C	T	31328629	3	4	27	1	0	0	0	0	1	0	0	0	9702	768	27	1	464	1	MORC2	22	31328629	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	237169	31328629	19975937	8303	32254											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31859800	31859800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgccaatcctacgtccaCcaagcagacgaagcccatca	6	17	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:31859800C>T	uc003akz.1	-	5	616	c.452G>A	c.(451-453)GGT>GAT	p.G151D	EIF4ENIF1_uc003ala.1_Missense_Mutation_p.G151D|EIF4ENIF1_uc003alb.1_Intron	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E	151	Arg-rich.					nucleus	protein binding|protein transporter activity			ovary(1)	1						CCTACGTCCACCAAGCAGACG	0.562													T	31859800	C	T	31859800	3	4	27	1	0	0	0	0	1	0	0	0	5035	507	18	4	2568	4	EIF4ENIF1	22	31859800	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	531171	31859800	19444766	8304	32255											
YWHAH	7533	broad.mit.edu	37	chr22	32352260	32352260	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaaccatggctgatggAaacgaaaagaaattggagaa	11	5	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:32352260A>G	uc003alz.2	+	2	463	c.222A>G	c.(220-222)GGA>GGG	p.G74G	YWHAH_uc010gwl.2_Silent_p.G4G|YWHAH_uc003ama.2_Silent_p.G4G|YWHAH_uc010gwm.2_Silent_p.G61G	NM_003405	NP_003396	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan	74					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			central_nervous_system(1)	1						TGGCTGATGGAAACGAAAAGA	0.468													G	32352260	A	G	32352260	2	3	27	1	0	0	0	0	0	0	0	1	17501	233	9	3		3	YWHAH	22	32352260	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	492460	32352260	18952306	8305	32256											
LARGE	9215	broad.mit.edu	37	chr22	33733731	33733731	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggtagaggttgcgaaaAaactccacatgcttgttctt	10	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:33733731A>G	uc003and.3	-	11	1767	c.1188T>C	c.(1186-1188)TTT>TTC	p.F396F	LARGE_uc011amd.1_Silent_p.F195F|LARGE_uc003ane.3_Silent_p.F396F|LARGE_uc010gwp.2_Intron|LARGE_uc011ame.1_Silent_p.F328F|LARGE_uc011amf.1_Silent_p.F396F|LARGE_uc010gwq.1_RNA	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	396	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				GGTTGCGAAAAAACTCCACAT	0.542													G	33733731	A	G	33733731	2	3	27	1	0	0	0	0	0	0	0	1	8627	11	1	3		3	LARGE	22	33733731	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1381471	33733731	17570835	8306	32257											
LARGE	9215	broad.mit.edu	37	chr22	34000453	34000453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcattgtagaagtccacacGcacagcgggcaccatccagg	11	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:34000453G>A	uc003and.3	-	6	1162	c.583C>T	c.(583-585)CGT>TGT	p.R195C	LARGE_uc003ane.3_Missense_Mutation_p.R195C|LARGE_uc010gwp.2_Missense_Mutation_p.R195C|LARGE_uc011ame.1_Missense_Mutation_p.R127C|LARGE_uc011amf.1_Missense_Mutation_p.R195C	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	195	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				AAGTCCACACGCACAGCGGGC	0.567													A	34000453	G	A	34000453	3	1	27	1	0	0	0	0	1	0	0	0	8627	1087	38	1	1731	1	LARGE	22	34000453	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	266722	34000453	17304113	8307	32258											
MCM5	4174	broad.mit.edu	37	chr22	35804510	35804510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggagctgcctgatgcaGtcccccacggggagatgccc	14	14	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:35804510G>A	uc003anu.3	+	6	800	c.706G>A	c.(706-708)GTC>ATC	p.V236I	MCM5_uc010gwr.2_Missense_Mutation_p.V45I|MCM5_uc003anv.3_Missense_Mutation_p.V193I|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_5'Flank	NM_006739	NP_006730	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	236					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)	1						GCCTGATGCAGTCCCCCACGG	0.607													A	35804510	G	A	35804510	3	1	27	1	0	0	0	0	1	0	0	0	9390	1029	36	4	724	4	MCM5	22	35804510	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1804057	35804510	15500056	8308	32259											
RASD2	23551	broad.mit.edu	37	chr22	35947862	35947862	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggccaagctgccacacgAgatgagccccgccctgcatc	10	17	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:35947862A>G	uc003anx.2	+	3	789	c.584A>G	c.(583-585)GAG>GGG	p.E195G	RASD2_uc003any.2_Missense_Mutation_p.E195G	NM_014310	NP_055125	Q96D21	RHES_HUMAN	RASD family, member 2 precursor	195	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			lung(2)|skin(1)	3						CTGCCACACGAGATGAGCCCC	0.607													G	35947862	A	G	35947862	3	3	27	1	0	0	0	0	1	0	0	0	13067	304	11	3	590	3	RASD2	22	35947862	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	143352	35947862	15356704	8309	32260											
APOL6	80830	broad.mit.edu	37	chr22	36054697	36054697	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgtgtgaagacgtggAgctacaagacggagatctgt	13	8	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:36054697A>T	uc003aoe.2	+	3	380	c.86A>T	c.(85-87)GAG>GTG	p.E29V	APOL6_uc003aod.2_RNA	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	apolipoprotein L6	29					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity				0						GAAGACGTGGAGCTACAAGAC	0.453													T	36054697	A	T	36054697	3	4	27	1	0	0	0	0	1	0	0	0	810	304	11	5	92	5	APOL6	22	36054697	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	106835	36054697	15249869	8310	32261											
APOL6	80830	broad.mit.edu	37	chr22	36055239	36055239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttctgaccactggccaaGtctcctcccggagccgcgtg	11	16	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:36055239G>A	uc003aoe.2	+	3	922	c.628G>A	c.(628-630)GTC>ATC	p.V210I	APOL6_uc003aod.2_RNA	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	apolipoprotein L6	210					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity				0						CACTGGCCAAGTCTCCTCCCG	0.557													A	36055239	G	A	36055239	3	1	27	1	0	0	0	0	1	0	0	0	810	1029	36	4	634	4	APOL6	22	36055239	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	542	36055239	15249327	8311	32262											
RBM9	23543	broad.mit.edu	37	chr22	36140273	36140273	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtagggggcaaatcggctGtagccacctcggtataaact	12	10	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:36140273G>A	uc003aon.3	-	14	1447	c.1335C>T	c.(1333-1335)TAC>TAT	p.Y445Y	RBM9_uc003aog.3_Silent_p.Y351Y|RBM9_uc003aol.3_Silent_p.Y370Y|RBM9_uc003aoj.3_Silent_p.Y374Y|RBM9_uc003aok.3_Missense_Mutation_p.T358I|RBM9_uc003aoh.3_Missense_Mutation_p.T361I|RBM9_uc003aom.3_Silent_p.Y352Y|RBM9_uc010gwu.2_Missense_Mutation_p.T361I|RBM9_uc003aoo.3_Silent_p.Y444Y	NM_001082578	NP_001076047	O43251	RFOX2_HUMAN	RNA binding motif protein 9 isoform 5	384					estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding				0						CAAATCGGCTGTAGCCACCTC	0.438													A	36140273	G	A	36140273	2	1	27	1	0	0	0	0	0	0	0	1	13147	1381	48	4		4	RBM9	22	36140273	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	85034	36140273	15164293	8312	32263											
APOL2	23780	broad.mit.edu	37	chr22	36624003	36624003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagctgctgctcccagaCccatgccagtgtccaagagc	10	16	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:36624003C>T	uc003aoz.2	-	5	797	c.461G>A	c.(460-462)GGT>GAT	p.G154D	APOL2_uc011amm.1_Missense_Mutation_p.G266D|APOL2_uc003apa.2_Missense_Mutation_p.G154D	NM_030882	NP_112092	Q9BQE5	APOL2_HUMAN	apolipoprotein L2	154					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding				0						TGCTCCCAGACCCATGCCAGT	0.562													T	36624003	C	T	36624003	3	4	27	1	0	0	0	0	1	0	0	0	806	507	18	4	556	4	APOL2	22	36624003	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	483730	36624003	14680563	8313	32264											
MYH9	4627	broad.mit.edu	37	chr22	36692912	36692912	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagggcggcctggagctcCtcctctttcttggccagctg	13	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:36692912C>T	uc003apg.2	-	25	3480	c.3249G>A	c.(3247-3249)GAG>GAA	p.E1083E		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1083	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CCTGGAGCTCCTCCTCTTTCT	0.682			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				T	36692912	C	T	36692912	2	4	27	1	0	0	0	0	0	0	0	1	10042	680	24	4		4	MYH9	22	36692912	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	68909	36692912	14611654	8314	32265											
FOXRED2	80020	broad.mit.edu	37	chr22	36902087	36902087	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccgcgaagtcacccaggTagcgcaccatgtcgcgggcg	14	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:36902087T>C	uc003apn.3	-	1	491	c.383A>G	c.(382-384)TAC>TGC	p.Y128C	FOXRED2_uc003apo.3_Missense_Mutation_p.Y128C|FOXRED2_uc003app.3_Missense_Mutation_p.Y128C	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	128					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			lung(1)|kidney(1)	2						GTCACCCAGGTAGCGCACCAT	0.647													C	36902087	T	C	36902087	3	2	27	1	0	0	0	0	1	0	0	0	6034	1638	57	3	1703	3	FOXRED2	22	36902087	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	209175	36902087	14402479	8315	32266											
C22orf33	339669	broad.mit.edu	37	chr22	37387573	37387573	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctaagtccctcactgattTctcaatgacctctggtgtgt	7	11	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:37387573T>C	uc003aqf.2	-	5	840	c.694A>G	c.(694-696)AAA>GAA	p.K232E	C22orf33_uc003aqe.2_Missense_Mutation_p.K147E	NM_001163857	NP_001157329	O43247	EAN57_HUMAN	hypothetical protein LOC339669 isoform 1	232											0						CTCACTGATTTCTCAATGACC	0.527													C	37387573	T	C	37387573	3	2	27	1	0	0	0	0	1	0	0	0	2145	1792	62	3	156	3	C22orf33	22	37387573	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	485486	37387573	13916993	8316	32267											
SSTR3	6753	broad.mit.edu	37	chr22	37603822	37603822	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaggtcgtggacaccgaTgatggatgaagcatgtccat	13	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:37603822T>C	uc003ara.2	-	2	83	c.21A>G	c.(19-21)TCA>TCG	p.S7S	SSTR3_uc003arb.2_Silent_p.S7S	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	7	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1						TGGACACCGATGATGGATGAA	0.617													C	37603822	T	C	37603822	2	2	27	1	0	0	0	0	0	0	0	1	15198	1451	51	3		3	SSTR3	22	37603822	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	216249	37603822	13700744	8317	32268											
CYTH4	27128	broad.mit.edu	37	chr22	37695345	37695345	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcaacctcgtccaggccctCaggtgagtagtcctggggca	12	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:37695345C>T	uc003arf.2	+	6	548	c.432C>T	c.(430-432)CTC>CTT	p.L144L	CYTH4_uc003are.2_Silent_p.L144L|CYTH4_uc011amw.1_Silent_p.L87L|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	144	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						TCCAGGCCCTCAGGTGAGTAG	0.647													T	37695345	C	T	37695345	2	4	27	1	0	0	0	0	0	0	0	1	4206	813	29	4		4	CYTH4	22	37695345	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	91523	37695345	13609221	8318	32269											
CYTH4	27128	broad.mit.edu	37	chr22	37707044	37707044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagggggccgcgtgaagaCgtggaaacggcgctggttca	18	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:37707044C>T	uc003arf.2	+	10	940	c.824C>T	c.(823-825)ACG>ATG	p.T275M	CYTH4_uc011amw.1_Missense_Mutation_p.T218M|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	275	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						CGCGTGAAGACGTGGAAACGG	0.632													T	37707044	C	T	37707044	3	4	27	1	0	0	0	0	1	0	0	0	4206	536	19	1	862	1	CYTH4	22	37707044	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	11699	37707044	13597522	8319	32270											
ELFN2	114794	broad.mit.edu	37	chr22	37770240	37770240	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggagccggcatccacatcAgccccgtagcgcatctccag	10	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:37770240A>G	uc003asq.3	-	3	2121	c.1335T>C	c.(1333-1335)GCT>GCC	p.A445A		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	445	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					CATCCACATCAGCCCCGTAGC	0.632													G	37770240	A	G	37770240	2	3	27	1	0	0	0	0	0	0	0	1	5058	175	7	3		3	ELFN2	22	37770240	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	63196	37770240	13534326	8320	32271											
ELFN2	114794	broad.mit.edu	37	chr22	37771126	37771126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatgctgatgaggctcgggCactcggagaaggcggtgggc	19	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:37771126C>T	uc003asq.3	-	3	1235	c.449G>A	c.(448-450)TGC>TAC	p.C150Y		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	150	Extracellular (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					GAGGCTCGGGCACTCGGAGAA	0.647													T	37771126	C	T	37771126	3	4	27	1	0	0	0	0	1	0	0	0	5058	710	25	2	2017	2	ELFN2	22	37771126	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	886	37771126	13533440	8321	32272											
SH3BP1	23616	broad.mit.edu	37	chr22	38046210	38046210	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttccatccaggtggtgggCgtcgtcgaggcgctgatcca	14	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:38046210C>T	uc003ati.2	+	15	1479	c.1368C>T	c.(1366-1368)GGC>GGT	p.G456G	SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_Missense_Mutation_p.A489V|SH3BP1_uc003ath.1_Silent_p.G456G|SH3BP1_uc003atj.1_Silent_p.G392G|SH3BP1_uc003atk.1_Silent_p.G370G|uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	456	Rho-GAP.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					AGGTGGTGGGCGTCGTCGAGG	0.537													T	38046210	C	T	38046210	2	4	27	1	0	0	0	0	0	0	0	1	14244	755	27	1		1	SH3BP1	22	38046210	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	275084	38046210	13258356	8322	32273											
TRIOBP	11078	broad.mit.edu	37	chr22	38130983	38130983	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagagggagcgtgtccatAcccgcgtggctctgagaggc	17	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:38130983A>G	uc003atr.2	+	9	4911	c.4640A>G	c.(4639-4641)TAC>TGC	p.Y1547C	TRIOBP_uc003atu.2_Missense_Mutation_p.Y1375C	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	1547					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					GCGTGTCCATACCCGCGTGGC	0.682											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	38130983	A	G	38130983	3	3	27	1	0	0	0	0	1	0	0	0	16550	391	14	3	4666	3	TRIOBP	22	38130983	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	84773	38130983	13173583	8323	32274											
BAIAP2L2	80115	broad.mit.edu	37	chr22	38484913	38484913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcgcccccgccgccgccCgggcgctcgccaaaggagtt	14	19	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:38484913C>T	uc003auw.2	-	10	1104	c.960G>A	c.(958-960)CCG>CCA	p.P320P	BAIAP2L2_uc003auv.2_5'Flank	NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	320					filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			pancreas(1)	1	Melanoma(58;0.045)					cgccgccgcccgggcgcTCGC	0.607													T	38484913	C	T	38484913	2	4	27	1	0	0	0	0	0	0	0	1	1303	639	23	1		1	BAIAP2L2	22	38484913	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	353930	38484913	12819653	8324	32275											
BAIAP2L2	80115	broad.mit.edu	37	chr22	38493074	38493074	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaaggtgttggaaagtaGcaggtgcttctctgctagga	15	6	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:38493074G>A	uc003auw.2	-	7	721	c.577C>T	c.(577-579)CTA>TTA	p.L193L		NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	193	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			pancreas(1)	1	Melanoma(58;0.045)					TTGGAAAGTAGCAGGTGCTTC	0.622													A	38493074	G	A	38493074	2	1	27	1	0	0	0	0	0	0	0	1	1303	962	34	2		2	BAIAP2L2	22	38493074	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	8161	38493074	12811492	8325	32276											
PLA2G6	8398	broad.mit.edu	37	chr22	38524328	38524328	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctctttccagggagaagggAtgatgtggcgctgcagagcc	16	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:38524328A>T	uc003auy.1	-	9	1432	c.1296T>A	c.(1294-1296)CAT>CAA	p.H432Q	PLA2G6_uc003auz.1_Intron|PLA2G6_uc003ava.1_Missense_Mutation_p.H432Q|PLA2G6_uc003avb.2_Intron|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Missense_Mutation_p.H397Q	NM_003560	NP_003551	O60733	PA2G6_HUMAN	phospholipase A2, group VI isoform a	432					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				ovary(1)	1	Melanoma(58;0.045)				Quinacrine(DB01103)	GGGAGAAGGGATGATGTGGCG	0.637													T	38524328	A	T	38524328	3	4	27	1	0	0	0	0	1	0	0	0	12008	330	12	5	1160	5	PLA2G6	22	38524328	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	31254	38524328	12780238	8326	32277											
CSNK1E	1454	broad.mit.edu	37	chr22	38689315	38689315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcccgagatggtcaaatGgcacacttgtcttttgaggg	11	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:38689315G>A	uc003avj.2	-	10	1490	c.1229C>T	c.(1228-1230)CCA>CTA	p.P410L	CSNK1E_uc003avk.2_Missense_Mutation_p.P410L|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.P410L|CSNK1E_uc003avn.1_Missense_Mutation_p.P94L|CSNK1E_uc003avo.2_Missense_Mutation_p.P410L	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	410					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)					ATGGTCAAATGGCACACTTGT	0.443													A	38689315	G	A	38689315	3	1	27	1	0	0	0	0	1	0	0	0	3953	1348	47	4	25	4	CSNK1E	22	38689315	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	164987	38689315	12615251	8327	32278											
KCNJ4	3761	broad.mit.edu	37	chr22	38824086	38824086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttgacgaagcggttgcGgcgcttccgccggggcacgt	15	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:38824086G>A	uc003avs.1	-	2	149	c.52C>T	c.(52-54)CGC>TGC	p.R18C	KCNJ4_uc003avt.1_Missense_Mutation_p.R18C	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	18	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					AAGCGGTTGCGGCGCTTCCGC	0.642													A	38824086	G	A	38824086	3	1	27	1	0	0	0	0	1	0	0	0	8053	1116	39	1	1289	1	KCNJ4	22	38824086	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	134771	38824086	12480480	8328	32279											
KDELR3	11015	broad.mit.edu	37	chr22	38877230	38877233	+	Frame_Shift_Del	DEL	TCTC	TCTC	-													ggctcagatcctctggacttTctctatctatctggaatcag					rs142887079	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:38877229_38877232TTCTC>T	uc003avu.3	+	3	520_523	c.364_367TTCTC>T	c.(364-369)ttctctfs	p.F122fs	KDELR3_uc003avv.3_Frame_Shift_Del_p.F122fs	NM_016657	NP_057839	O43731	ERD23_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 (KDELR3), transcript variant 2, mRNA.	122					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					CCTCTGGACTTTCTCTATCTATCT	0.451													-	38877233	TCTC	-	38877230	7	5	27	1	0	1	0	1	0	0	0	0	8121	1783	62	0	379	0	KDELR3	22	38877230	Frame_Shift_Del	DEL	TCTC	TCGA-BR-6452-01A-12D-1800-08	53144	38877230	12427336	8329	32280											
APOBEC3B	9582	broad.mit.edu	37	chr22	39382383	39382383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaattcgatgaaaattatGcattcctgcaccgcacgcta	6	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:39382383G>A	uc003awo.1	+	4	589	c.535G>A	c.(535-537)GCA>ACA	p.A179T	APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.A179T|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	179					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(58;0.04)					TGAAAATTATGCATTCCTGCA	0.483													A	39382383	G	A	39382383	3	1	27	1	0	0	0	0	1	0	0	0	790	1319	46	2	549	2	APOBEC3B	22	39382383	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	505153	39382383	11922183	8330	32281											
APOBEC3G	60489	broad.mit.edu	37	chr22	39482481	39482481	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgagcctgtgcatcttcacTgcccgcatctatgatgatca	9	12	4	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:39482481T>C	uc003awx.2	+	6	1275	c.933T>C	c.(931-933)ACT>ACC	p.T311T	APOBEC3G_uc003awy.2_Silent_p.T244T	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	311					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2	Melanoma(58;0.04)					GCATCTTCACTGCCCGCATCT	0.512													C	39482481	T	C	39482481	2	2	27	1	0	0	0	0	0	0	0	1	794	1567	55	3		3	APOBEC3G	22	39482481	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	100098	39482481	11822085	8331	32282											
SMCR7L	54471	broad.mit.edu	37	chr22	39907986	39907986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgaagacgggcctgagcCggtccttgcagacccttccc	11	15	0	4	rs144526373		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:39907986C>T	uc003axx.2	+	4	775	c.277C>T	c.(277-279)CGG>TGG	p.R93W	SMCR7L_uc003axw.2_Missense_Mutation_p.R93W|SMCR7L_uc010gxz.1_5'UTR|SMCR7L_uc003axy.2_5'UTR	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	93						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)					GGGCCTGAGCCGGTCCTTGCA	0.602													T	39907986	C	T	39907986	3	4	27	1	0	0	0	0	1	0	0	0	14791	643	23	1	283	1	SMCR7L	22	39907986	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	425505	39907986	11396580	8332	32283											
SMCR7L	54471	broad.mit.edu	37	chr22	39910325	39910325	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggtgctgctgcagacGtagggcaggtgaaggccaaa	16	9	0	3	rs142355530		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:39910325G>A	uc003axx.2	+	6	1887	c.1389G>A	c.(1387-1389)ACG>ACA	p.T463T	SMCR7L_uc003axw.2_Intron|SMCR7L_uc003axy.2_Silent_p.T285T	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	463						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)					TGCTGCAGACGTAGGGCAGGT	0.522											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	39910325	G	A	39910325	2	1	27	1	0	0	0	0	0	0	0	1	14791	1132	40	1		1	SMCR7L	22	39910325	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2339	39910325	11394241	8333	32284											
CACNA1I	8911	broad.mit.edu	37	chr22	40055777	40055777	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgggcctccctctacTttgtcgccctcatgaccttc	6	19	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:40055777T>C	uc003ayc.2	+	14	2524	c.2524T>C	c.(2524-2526)TTT>CTT	p.F842L	CACNA1I_uc003ayd.2_Missense_Mutation_p.F807L|CACNA1I_uc003aye.2_Missense_Mutation_p.F757L|CACNA1I_uc003ayf.2_Missense_Mutation_p.F722L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	842	Helical; Name=S6 of repeat II; (Potential).|II.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CTCCCTCTACTTTGTCGCCCT	0.582													C	40055777	T	C	40055777	3	2	27	1	0	0	0	0	1	0	0	0	2546	1609	56	3	2578	3	CACNA1I	22	40055777	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	145452	40055777	11248789	8334	32285											
CACNA1I	8911	broad.mit.edu	37	chr22	40061520	40061520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtcatcagccgggcgcCgggcctgaagctggtggtgg	18	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:40061520C>T	uc003ayc.2	+	22	3869	c.3869C>T	c.(3868-3870)CCG>CTG	p.P1290L	CACNA1I_uc003ayd.2_Missense_Mutation_p.P1255L|CACNA1I_uc003aye.2_Missense_Mutation_p.P1205L|CACNA1I_uc003ayf.2_Missense_Mutation_p.P1170L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1290	III.|Helical; Name=S4 of repeat III; (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	AGCCGGGCGCCGGGCCTGAAG	0.617													T	40061520	C	T	40061520	3	4	27	1	0	0	0	0	1	0	0	0	2546	652	23	1	3955	1	CACNA1I	22	40061520	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5743	40061520	11243046	8335	32286											
TNRC6B	23112	broad.mit.edu	37	chr22	40661413	40661413	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaccccatggagaataagggAatgccctttggaatgggctt	12	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:40661413A>T	uc011aor.1	+	5	1390	c.1179A>T	c.(1177-1179)GGA>GGT	p.G393G	TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Silent_p.G393G|TNRC6B_uc003ayo.2_Silent_p.G197G	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	393					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						AGAATAAGGGAATGCCCTTTG	0.483													T	40661413	A	T	40661413	2	4	27	1	0	0	0	0	0	0	0	1	16338	233	9	5		5	TNRC6B	22	40661413	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	599893	40661413	10643153	8336	32287											
TNRC6B	23112	broad.mit.edu	37	chr22	40711435	40711435	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggtctgaccaaccccaaAccatcatctccctggagcag	7	17	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:40711435A>G	uc011aor.1	+	20	5038	c.4827A>G	c.(4825-4827)AAA>AAG	p.K1609K	TNRC6B_uc003aym.2_Silent_p.K805K|TNRC6B_uc003ayn.3_Silent_p.K1499K|TNRC6B_uc003ayo.2_Silent_p.K1356K	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	1609					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						CCAACCCCAAACCATCATCTC	0.582													G	40711435	A	G	40711435	2	3	27	1	0	0	0	0	0	0	0	1	16338	40	2	3		3	TNRC6B	22	40711435	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	50022	40711435	10593131	8337	32288											
ADSL	158	broad.mit.edu	37	chr22	40746002	40746002	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagctgcaggcattattcAccttggtgctacttcttgct	8	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:40746002A>G	uc003ayp.3	+	2	379	c.320A>G	c.(319-321)CAC>CGC	p.H107R	ADSL_uc003ays.3_Missense_Mutation_p.H107R|ADSL_uc003ayq.3_Missense_Mutation_p.H107R|ADSL_uc003ayr.3_5'UTR|ADSL_uc003ayt.3_Missense_Mutation_p.H107R	NM_000026	NP_000017	P30566	PUR8_HUMAN	adenylosuccinate lyase isoform a	107					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			ovary(1)	1						GGCATTATTCACCTTGGTGCT	0.418													G	40746002	A	G	40746002	3	3	27	1	0	0	0	0	1	0	0	0	346	159	6	3	326	3	ADSL	22	40746002	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	34567	40746002	10558564	8338	32289											
MCHR1	2847	broad.mit.edu	37	chr22	41077411	41077411	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatcacccctgtgtggctgTatgccagactcatccccttc	8	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:41077411T>C	uc003ayz.2	+	2	1016	c.748T>C	c.(748-750)TAT>CAT	p.Y250H	MCHR1_uc003aza.2_Missense_Mutation_p.Y139H	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	G protein-coupled receptor 24	250	Helical; Name=4; (Potential).		Y -> H.		elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity				0						TGTGTGGCTGTATGCCAGACT	0.597													C	41077411	T	C	41077411	3	2	27	1	0	0	0	0	1	0	0	0	9382	1638	57	3	754	3	MCHR1	22	41077411	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	331409	41077411	10227155	8339	32290											
ST13	6767	broad.mit.edu	37	chr22	41226881	41226881	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctcttctcgagccttcttaActcgttctattctttctttg	5	12	6	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:41226881A>T	uc003aze.2	-	9	904	c.761T>A	c.(760-762)GTT>GAT	p.V254D	ST13_uc011aow.1_Missense_Mutation_p.V244D	NM_003932	NP_003923	P50502	F10A1_HUMAN	heat shock 70kD protein binding protein	254							protein binding, bridging				0						AGCCTTCTTAACTCGTTCTAT	0.418													T	41226881	A	T	41226881	3	4	27	1	0	0	0	0	1	0	0	0	15209	43	2	5	364	5	ST13	22	41226881	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	149470	41226881	10077685	8340	32291											
RANGAP1	5905	broad.mit.edu	37	chr22	41645453	41645453	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggccttgaccttgtcttcActctgagaggaacacagcga	10	11	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:41645453A>G	uc003azs.2	-	14	3045	c.1575T>C	c.(1573-1575)AGT>AGC	p.S525S	RANGAP1_uc003azt.2_Silent_p.S525S|RANGAP1_uc003azu.2_Silent_p.S525S|RANGAP1_uc003azr.2_Silent_p.S38S|RANGAP1_uc010gyk.2_Silent_p.S28S|RANGAP1_uc011aoz.1_Silent_p.S470S	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	525	SUMO conjugation.				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						CCTTGTCTTCACTCTGAGAGG	0.592													G	41645453	A	G	41645453	2	3	27	1	0	0	0	0	0	0	0	1	13033	156	6	3		3	RANGAP1	22	41645453	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	418572	41645453	9659113	8341	32292											
ZC3H7B	23264	broad.mit.edu	37	chr22	41745258	41745258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggacagctgccacttcgCccacagcttcatcgagctca	10	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:41745258C>T	uc003azw.2	+	16	2117	c.1901C>T	c.(1900-1902)GCC>GTC	p.A634V	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	650	C3H1-type 2.				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						TGCCACTTCGCCCACAGCTTC	0.632													T	41745258	C	T	41745258	3	4	27	1	0	0	0	0	1	0	0	0	17570	739	26	2	1959	2	ZC3H7B	22	41745258	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	99805	41745258	9559308	8342	32293											
TOB2	10766	broad.mit.edu	37	chr22	41833079	41833079	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagggatcaatccagacacTcagctcctcaggcacattgg	9	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:41833079T>C	uc003azz.1	-	2	978	c.271A>G	c.(271-273)AGT>GGT	p.S91G		NM_016272	NP_057356	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	91					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				ovary(1)	1						ATCCAGACACTCAGCTCCTCA	0.592													C	41833079	T	C	41833079	3	2	27	1	0	0	0	0	1	0	0	0	16345	1551	54	3	767	3	TOB2	22	41833079	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	87821	41833079	9471487	8343	32294											
MEI1	150365	broad.mit.edu	37	chr22	42180408	42180408	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagctttccaaagaaaaaGgctgcactactctcaggtat	7	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:42180408G>A	uc003baz.1	+	25	3178	c.3153G>A	c.(3151-3153)AAG>AAA	p.K1051K	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Silent_p.K437K|MEI1_uc003bbc.1_Silent_p.K419K|MEI1_uc010gym.1_Silent_p.K384K|MEI1_uc003bbd.1_Silent_p.K294K|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA|MEI1_uc011apf.1_Silent_p.K65K|MEI1_uc010gyo.1_Silent_p.K65K|MEI1_uc003bbf.2_Silent_p.K65K|MEI1_uc003bbg.2_Silent_p.K65K	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	1051							binding			central_nervous_system(1)|skin(1)	2						CAAAGAAAAAGGCTGCACTAC	0.502													A	42180408	G	A	42180408	2	1	27	1	0	0	0	0	0	0	0	1	9465	991	35	4		4	MEI1	22	42180408	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	347329	42180408	9124158	8344	32295											
SREBF2	6721	broad.mit.edu	37	chr22	42262990	42262990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcaggggcagcagcagcGgagctgtggacccttcagtg	17	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:42262990G>A	uc003bbi.2	+	2	413	c.244G>A	c.(244-246)GGA>AGA	p.G82R	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	82	Gly/Pro/Ser-rich.|Cytoplasmic (Potential).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4						cagcagcagcGGAGCTGTGGA	0.403													A	42262990	G	A	42262990	3	1	27	1	0	0	0	0	1	0	0	0	15141	1117	39	1	250	1	SREBF2	22	42262990	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	82582	42262990	9041576	8345	32296											
SREBF2	6721	broad.mit.edu	37	chr22	42269866	42269866	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgatggggcaagagaaagTgcccattaagcaggtacctg	13	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:42269866T>C	uc003bbi.2	+	5	1101	c.932T>C	c.(931-933)GTG>GCG	p.V311A	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	311	Interaction with LMNA (By similarity).|Cytoplasmic (Potential).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4						CAAGAGAAAGTGCCCATTAAG	0.517													C	42269866	T	C	42269866	3	2	27	1	0	0	0	0	1	0	0	0	15141	1696	59	3	950	3	SREBF2	22	42269866	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	6876	42269866	9034700	8346	32297											
NFAM1	150372	broad.mit.edu	37	chr22	42807623	42807623	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagatcttcatgaaagtagcTgactgtgaaaaccttgaatt	9	6	2	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:42807623T>C	uc003bcn.3	-	2	279	c.241A>G	c.(241-243)AGC>GGC	p.S81G		NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN	NFAT activation molecule 1 precursor	81	Extracellular (Potential).|Ig-like V-type.				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity				0						TGAAAGTAGCTGACTGTGAAA	0.552													C	42807623	T	C	42807623	3	2	27	1	0	0	0	0	1	0	0	0	10358	1580	55	3	591	3	NFAM1	22	42807623	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	537757	42807623	8496943	8347	32298											
SERHL2	253190	broad.mit.edu	37	chr22	42969952	42969952	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctctccagcagttccagtTtgtggaagtcccaggcaatc	9	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:42969952T>C	uc003bcr.2	+	12	938	c.836T>C	c.(835-837)TTT>TCT	p.F279S	SERHL2_uc010gyz.2_Missense_Mutation_p.F215S|SERHL2_uc010gyy.2_RNA|SERHL2_uc011apo.1_RNA|RRP7B_uc003bcs.2_Intron|RRP7B_uc003bct.2_RNA	NM_014509	NP_055324	Q9H4I8	SEHL2_HUMAN	serine hydrolase-like 2	279						perinuclear region of cytoplasm|peroxisome	hydrolase activity				0						CAGTTCCAGTTTGTGGAAGTC	0.617													C	42969952	T	C	42969952	3	2	27	1	0	0	0	0	1	0	0	0	14078	1841	64	3	882	3	SERHL2	22	42969952	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	162329	42969952	8334614	8348	32299											
CYB5R3	1727	broad.mit.edu	37	chr22	43023656	43023656	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agacttcactgtcctgatgaTagggttggactttttgtcag	11	7	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:43023656T>A	uc003bcz.2	-	6	586	c.502A>T	c.(502-504)ATC>TTC	p.I168F	CYB5R3_uc010gzc.1_Missense_Mutation_p.I42F|CYB5R3_uc003bcw.2_Missense_Mutation_p.I158F|CYB5R3_uc011aps.1_Missense_Mutation_p.I201F|CYB5R3_uc003bcy.2_Missense_Mutation_p.I145F|CYB5R3_uc003bcx.2_Missense_Mutation_p.I145F	NM_000398	NP_000389	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3 isoform m	168					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			skin(1)	1					NADH(DB00157)	GTCCTGATGATAGGGTTGGAC	0.602													A	43023656	T	A	43023656	3	1	27	1	0	0	0	0	1	0	0	0	4128	1406	49	5	419	5	CYB5R3	22	43023656	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	53704	43023656	8280910	8349	32300											
PACSIN2	11252	broad.mit.edu	37	chr22	43286998	43286998	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtgccttccgaaagccGtcctcagcttccttggtctc	8	15	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:43286998G>A	uc010gzg.2	-	4	630	c.408C>T	c.(406-408)GAC>GAT	p.D136D	PACSIN2_uc003bdg.3_Silent_p.D136D|PACSIN2_uc003bde.3_Silent_p.D136D|PACSIN2_uc003bdf.3_Silent_p.D136D	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in	136					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity				0		Glioma(61;0.222)				TCCGAAAGCCGTCCTCAGCTT	0.562													A	43286998	G	A	43286998	2	1	27	1	0	0	0	0	0	0	0	1	11375	1136	40	1		1	PACSIN2	22	43286998	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	263342	43286998	8017568	8350	32301											
MCAT	27349	broad.mit.edu	37	chr22	43533210	43533210	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacaggcgaagttgaacttGgactgaggctggccgaggac	15	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:43533210G>A	uc003bdl.1	-	3	655	c.606C>T	c.(604-606)TCC>TCT	p.S202S	MCAT_uc003bdm.1_Intron	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN	mitochondrial malonyltransferase isoform a	202					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			ovary(1)	1		Ovarian(80;0.0694)				AGTTGAACTTGGACTGAGGCT	0.532											OREG0026613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	43533210	G	A	43533210	2	1	27	1	0	0	0	0	0	0	0	1	9372	1335	47	4		4	MCAT	22	43533210	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	246212	43533210	7771356	8351	32302											
EFCAB6	64800	broad.mit.edu	37	chr22	43950910	43950910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgagccaggatgtctctgtCggctgtggccttgggagagg	18	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:43950910C>T	uc003bdy.1	-	27	3702	c.3487G>A	c.(3487-3489)GAC>AAC	p.D1163N	EFCAB6_uc003bdz.1_Missense_Mutation_p.D1011N|EFCAB6_uc010gzi.1_Missense_Mutation_p.D1011N|EFCAB6_uc010gzj.1_Missense_Mutation_p.D389N	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				ATGTCTCTGTCGGCTGTGGCC	0.507													T	43950910	C	T	43950910	3	4	27	1	0	0	0	0	1	0	0	0	4939	884	31	1	1042	1	EFCAB6	22	43950910	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	417700	43950910	7353656	8352	32303											
EFCAB6	64800	broad.mit.edu	37	chr22	43950972	43950972	+	Missense_Mutation	SNP	G	G	A													ttttctcagcccactcatcaGctgtctggacaaaatagaat							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:43950972G>A	uc003bdy.1	-	27	3640	c.3425C>T	c.(3424-3426)GCT>GTT	p.A1142V	EFCAB6_uc003bdz.1_Missense_Mutation_p.A990V|EFCAB6_uc010gzi.1_Missense_Mutation_p.A990V|EFCAB6_uc010gzj.1_Missense_Mutation_p.A368V	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				CCACTCATCAGCTGTCTGGAC	0.552													A	43950972	G	A	43950972	3	1	27	1	0	0	0	0	1	0	0	0	4939	971	34	2	1104	2	EFCAB6	22	43950972	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	62	43950972	7353594	8353	32304	109	2									
EFCAB6	64800	broad.mit.edu	37	chr22	43950974	43950974	+	Silent	SNP	T	T	G													ttctcagcccactcatcagcTgtctggacaaaatagaatgg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:43950974T>G	uc003bdy.1	-	27	3638	c.3423A>C	c.(3421-3423)ACA>ACC	p.T1141T	EFCAB6_uc003bdz.1_Silent_p.T989T|EFCAB6_uc010gzi.1_Silent_p.T989T|EFCAB6_uc010gzj.1_Silent_p.T367T	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				ACTCATCAGCTGTCTGGACAA	0.557													G	43950974	T	G	43950974	2	3	27	1	0	0	0	0	0	0	0	1	4939	1567	55	5		5	EFCAB6	22	43950974	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2	43950974	7353592	8354	32305	109	2									
SAMM50	25813	broad.mit.edu	37	chr22	44373776	44373776	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggcaggctacactggcgggGatgtgagcttcatcaaagaa	14	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:44373776G>T	uc003bej.2	+	10	1071	c.874G>T	c.(874-876)GAT>TAT	p.D292Y	SAMM50_uc011aqd.1_Missense_Mutation_p.D82Y|SAMM50_uc003bek.2_Missense_Mutation_p.D97Y	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	sorting and assembly machinery component 50	292					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			skin(1)	1		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CACTGGCGGGGATGTGAGCTT	0.468													T	44373776	G	T	44373776	3	4	27	1	0	0	0	0	1	0	0	0	13829	1174	41	5	912	5	SAMM50	22	44373776	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	422802	44373776	6930790	8355	32306											
C22orf9	23313	broad.mit.edu	37	chr22	45598993	45598993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgggggcccttcatgcGcacaaactccatgttgctgt	11	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:45598993G>A	uc003bfx.1	-	7	796	c.730C>T	c.(730-732)CGC>TGC	p.R244C	C22orf9_uc010gzw.1_Missense_Mutation_p.R96C|C22orf9_uc003bfv.1_Missense_Mutation_p.R253C|C22orf9_uc003bfw.1_Missense_Mutation_p.R249C|C22orf9_uc010gzx.2_Missense_Mutation_p.R226C|MIR1249_hsa-mir-1249|MI0006384_5'Flank	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	hypothetical protein LOC23313 isoform b	244							protein binding				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)		CCCTTCATGCGCACAAACTCC	0.642													A	45598993	G	A	45598993	3	1	27	1	0	0	0	0	1	0	0	0	2151	1087	38	1	500	1	C22orf9	22	45598993	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1225217	45598993	5705573	8356	32307											
FAM118A	55007	broad.mit.edu	37	chr22	45728581	45728581	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccactcagatctgcaaacaGcaaagcccaggtatgggatc	10	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:45728581G>A	uc003bfz.3	+	7	1543	c.927G>A	c.(925-927)CAG>CAA	p.Q309Q	FAM118A_uc003bga.3_Silent_p.Q309Q|FAM118A_uc011aqr.1_Silent_p.Q127Q	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	309						integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TCTGCAAACAGCAAAGCCCAG	0.323													A	45728581	G	A	45728581	2	1	27	1	0	0	0	0	0	0	0	1	5411	962	34	2		2	FAM118A	22	45728581	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	129588	45728581	5575985	8357	32308											
PKDREJ	10343	broad.mit.edu	37	chr22	46655545	46655545	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagcataaattatcataaggAtcattatctggtagaactat	6	5	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:46655545A>T	uc003bhh.2	-	1	3675	c.3675T>A	c.(3673-3675)GAT>GAA	p.D1225E		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1225	Cytoplasmic (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TATCATAAGGATCATTATCTG	0.433													T	46655545	A	T	46655545	3	4	27	1	0	0	0	0	1	0	0	0	11970	330	12	5	3090	5	PKDREJ	22	46655545	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	926964	46655545	4649021	8358	32309											
PKDREJ	10343	broad.mit.edu	37	chr22	46655740	46655740	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggatcacaatcaccttggcCatcacatagtgggtatgcag	11	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:46655740C>A	uc003bhh.2	-	1	3480	c.3480G>T	c.(3478-3480)ATG>ATT	p.M1160I		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1160	Extracellular (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCACCTTGGCCATCACATAGT	0.502													A	46655740	C	A	46655740	3	1	27	1	0	0	0	0	1	0	0	0	11970	594	21	5	3285	5	PKDREJ	22	46655740	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	195	46655740	4648826	8359	32310											
PKDREJ	10343	broad.mit.edu	37	chr22	46655797	46655797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgattgtgcccagctgccgCctagcccttactacattctt	7	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:46655797C>T	uc003bhh.2	-	1	3423	c.3423G>A	c.(3421-3423)AGG>AGA	p.R1141R		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1141	Extracellular (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCAGCTGCCGCCTAGCCCTTA	0.507													T	46655797	C	T	46655797	2	4	27	1	0	0	0	0	0	0	0	1	11970	738	26	2		2	PKDREJ	22	46655797	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	57	46655797	4648769	8360	32311											
GTSE1	51512	broad.mit.edu	37	chr22	46712215	46712215	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcaattgaataagacTagaagtatcagacggcgaga	9	7	3	5			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:46712215T>C	uc011aqy.1	+	7	1550	c.1338T>C	c.(1336-1338)ACT>ACC	p.T446T	GTSE1_uc011aqz.1_Silent_p.T293T|GTSE1_uc003bhl.1_Silent_p.T71T|GTSE1_uc003bhm.1_Silent_p.T71T	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	427					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TGAATAAGACTAGAAGTATCA	0.468													C	46712215	T	C	46712215	2	2	27	1	0	0	0	0	0	0	0	1	6885	1509	53	3		3	GTSE1	22	46712215	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	56418	46712215	4592351	8361	32312											
GTSE1	51512	broad.mit.edu	37	chr22	46719117	46719117	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacagctcaacaccaaagcTttcgcgggcacagcggccgc	12	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:46719117T>G	uc011aqy.1	+	8	1675	c.1463T>G	c.(1462-1464)CTT>CGT	p.L488R	GTSE1_uc011aqz.1_Missense_Mutation_p.L335R|GTSE1_uc003bhl.1_Missense_Mutation_p.L113R|GTSE1_uc003bhm.1_Missense_Mutation_p.L113R	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	469					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		ACACCAAAGCTTTCGCGGGCA	0.562													G	46719117	T	G	46719117	3	3	27	1	0	0	0	0	1	0	0	0	6885	1609	56	5	1489	5	GTSE1	22	46719117	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	6902	46719117	4585449	8362	32313											
CELSR1	9620	broad.mit.edu	37	chr22	46929687	46929687	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acgtcggggtcatgggccggGatgcagccgatcacgccggt	17	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:46929687G>T	uc003bhw.1	-	1	3381	c.3381C>A	c.(3379-3381)ATC>ATA	p.I1127I		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1127	Extracellular (Potential).|Cadherin 9.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CATGGGCCGGGATGCAGCCGA	0.607													T	46929687	G	T	46929687	2	4	27	1	0	0	0	0	0	0	0	1	3221	1164	41	5		5	CELSR1	22	46929687	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	210570	46929687	4374879	8363	32314											
CELSR1	9620	broad.mit.edu	37	chr22	46931227	46931227	+	Frame_Shift_Del	DEL	C	C	-													tcttaggcccagcgctgccgCcccccagaaaggtggaggcc							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:46931226_46931226GC>G	uc003bhw.1	-	0	1842	c.1842_1842GC>C	c.(1840-1842)ggcfs	p.G614fs		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	614	Cadherin 4.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGCGCTGCCGCCCCCCAGAA	0.657													-	46931227	C	-	46931227	7	5	27	1	0	1	0	1	0	0	0	0	3221	739	26	0	7343	0	CELSR1	22	46931227	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	1540	46931227	4373339	8364	32315											
GRAMD4	23151	broad.mit.edu	37	chr22	47071445	47071445	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggacatcacggacatccAgaaggttggtgcacctaccc	11	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:47071445A>G	uc003bhx.2	+	16	1598	c.1559A>G	c.(1558-1560)CAG>CGG	p.Q520R	GRAMD4_uc010had.2_Missense_Mutation_p.Q459R|GRAMD4_uc003bhy.2_Missense_Mutation_p.Q43R	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	520	GRAM.				apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		ACGGACATCCAGAAGGTTGGT	0.532													G	47071445	A	G	47071445	3	3	27	1	0	0	0	0	1	0	0	0	6752	188	7	3	1621	3	GRAMD4	22	47071445	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	140218	47071445	4233121	8365	32316											
CERK	64781	broad.mit.edu	37	chr22	47086002	47086002	+	Frame_Shift_Del	DEL	C	C	-													atgtgcccaaagcgcttcttCcccccctccttgaggtcgct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:47086002delC	uc003bia.2	-	12	1535	c.1428delG	c.(1426-1428)GGGfs	p.G476fs	CERK_uc010hae.2_Frame_Shift_Del_p.G278fs	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	ceramide kinase	476					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			skin(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCGCTTCTTCCCCCCCTCCT	0.557													-	47086002	C	-	47086002	7	5	27	1	0	1	0	1	0	0	0	0	3267	842	30	0	193	0	CERK	22	47086002	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	14557	47086002	4218564	8366	32317											
CERK	64781	broad.mit.edu	37	chr22	47086049	47086049	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctccatgtgcttcgacgTaaactggaatttcttgacgc	8	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:47086049T>C	uc003bia.2	-	12	1488	c.1381A>G	c.(1381-1383)ACG>GCG	p.T461A	CERK_uc010hae.2_Missense_Mutation_p.T263A	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	ceramide kinase	461					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			skin(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGCTTCGACGTAAACTGGAAT	0.517													C	47086049	T	C	47086049	3	2	27	1	0	0	0	0	1	0	0	0	3267	1638	57	3	240	3	CERK	22	47086049	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	47	47086049	4218517	8367	32318											
CERK	64781	broad.mit.edu	37	chr22	47089353	47089353	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaccatacagtgctttcTtctgctcctcctccagctgc	5	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:47089353T>C	uc003bia.2	-	10	1204	c.1097A>G	c.(1096-1098)AAG>AGG	p.K366R	CERK_uc010hae.2_Missense_Mutation_p.K168R	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	ceramide kinase	366					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			skin(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGTGCTTTCTTCTGCTCCTC	0.488													C	47089353	T	C	47089353	3	2	27	1	0	0	0	0	1	0	0	0	3267	1609	56	3	532	3	CERK	22	47089353	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3304	47089353	4215213	8368	32319											
TBC1D22A	25771	broad.mit.edu	37	chr22	47189568	47189568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgaggtggtcatggagaCggccaaccgtgtgctgcgta	15	11	1	1	rs141580250	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:47189568C>T	uc003bib.2	+	3	425	c.290C>T	c.(289-291)ACG>ATG	p.T97M	TBC1D22A_uc010haf.2_Missense_Mutation_p.T67M|TBC1D22A_uc003bic.2_Missense_Mutation_p.T97M|TBC1D22A_uc003bie.2_Missense_Mutation_p.T78M|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.T50M	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	97						intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GTCATGGAGACGGCCAACCGT	0.677													T	47189568	C	T	47189568	3	4	27	1	0	0	0	0	1	0	0	0	15608	536	19	1	300	1	TBC1D22A	22	47189568	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	100215	47189568	4114998	8369	32320											
TBC1D22A	25771	broad.mit.edu	37	chr22	47507445	47507445	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttccacttgtacgtgtgCgctgcttttctcgtgagatg	10	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:47507445C>T	uc003bib.2	+	12	1506	c.1371C>T	c.(1369-1371)TGC>TGT	p.C457C	TBC1D22A_uc010haf.2_Silent_p.C427C|TBC1D22A_uc003bic.2_Silent_p.C398C|TBC1D22A_uc003bie.2_Silent_p.C379C|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Silent_p.C410C	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	457						intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TGTACGTGTGCGCTGCTTTTC	0.373													T	47507445	C	T	47507445	2	4	27	1	0	0	0	0	0	0	0	1	15608	776	27	1		1	TBC1D22A	22	47507445	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	317877	47507445	3797121	8370	32321											
ZBED4	9889	broad.mit.edu	37	chr22	50277749	50277749	+	Frame_Shift_Del	DEL	A	A	-													tgaaggagttcagcagaggcAaaaacgagaaagacttgagt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:50277748_50277748CA>C	uc003bix.2	+	1	908	c.438_438CA>C	c.(436-438)ggcfs	p.G146fs	ZBED4_uc021wrx.1_Frame_Shift_Del_p.G146fs	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	146						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TCAGCAGAGGCAAAAACGAGA	0.507													-	50277749	A	-	50277749	7	5	27	1	0	1	0	1	0	0	0	0	17517	131	5	0	441	0	ZBED4	22	50277749	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	2770304	50277749	1026817	8371	32322											
ZBED4	9889	broad.mit.edu	37	chr22	50280486	50280486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccccgtcgaaagactctgCcgcagaggagaacctgtggt	12	13	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:50280486C>T	uc003bix.2	+	2	3646	c.3176C>T	c.(3175-3177)GCC>GTC	p.A1059V		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1059						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AAAGACTCTGCCGCAGAGGAG	0.532													T	50280486	C	T	50280486	3	4	27	1	0	0	0	0	1	0	0	0	17517	739	26	2	3178	2	ZBED4	22	50280486	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2737	50280486	1024080	8372	32323											
ALG12	79087	broad.mit.edu	37	chr22	50298028	50298028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcctctgcattgcgacGccacctgggtagttgaaatg	12	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:50298028G>A	uc003biy.2	-	8	1393	c.1119C>T	c.(1117-1119)GGC>GGT	p.G373G		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	alpha-1,6-mannosyltransferase ALG12	373					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane					0		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GCATTGCGACGCCACCTGGGT	0.637													A	50298028	G	A	50298028	2	1	27	1	0	0	0	0	0	0	0	1	514	1074	38	1		1	ALG12	22	50298028	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	17542	50298028	1006538	8373	32324											
CRELD2	79174	broad.mit.edu	37	chr22	50313888	50313888	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaacctacggtcccgaCtgtctcggtgcgtttctcct	10	15	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:50313888C>T	uc003bja.2	+	4	543	c.408C>T	c.(406-408)GAC>GAT	p.D136D	ALG12_uc003biy.2_5'Flank|CRELD2_uc003biz.3_Silent_p.D136D|CRELD2_uc010haj.2_Silent_p.D136D|CRELD2_uc010hal.2_Silent_p.D136D|CRELD2_uc010hak.2_Silent_p.D136D|CRELD2_uc010ham.2_Silent_p.D136D	NM_024324	NP_077300	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2 isoform b	136	EGF-like 1.					endoplasmic reticulum|extracellular region	calcium ion binding				0		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		ACGGTCCCGACTGTCTCGGTG	0.512													T	50313888	C	T	50313888	2	4	27	1	0	0	0	0	0	0	0	1	3867	564	20	4		4	CRELD2	22	50313888	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	15860	50313888	990678	8374	32325											
MOV10L1	54456	broad.mit.edu	37	chr22	50599130	50599130	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttaggtacggtcaaatgAagatagatttgaagatgatc	10	4	1	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:50599130A>G	uc003bjj.2	+	25	3421	c.3338A>G	c.(3337-3339)GAA>GGA	p.E1113G	MOV10L1_uc003bjk.3_Intron|MOV10L1_uc011arp.1_Missense_Mutation_p.E1093G|MOV10L1_uc003bjl.2_Missense_Mutation_p.E240G	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	1113					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CGGTCAAATGAAGATAGATTT	0.348													G	50599130	A	G	50599130	3	3	27	1	0	0	0	0	1	0	0	0	9719	246	9	3	3489	3	MOV10L1	22	50599130	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	285242	50599130	705436	8375	32326											
MAPK12	6300	broad.mit.edu	37	chr22	50693732	50693732	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcgaagtagggatgggcCagcgcctcgcctgccgtcac	14	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:50693732C>T	uc003bkm.1	-	11	1069	c.918G>A	c.(916-918)CTG>CTA	p.L306L	MAPK12_uc003bkn.2_Silent_p.L125L|MAPK12_uc003bko.2_Silent_p.L216L|MAPK12_uc003bkl.1_Silent_p.L296L|MAPK12_uc003bkp.2_Silent_p.L91L|MAPK12_uc003bkq.2_Silent_p.L125L	NM_002969	NP_002960	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	306	Protein kinase.				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGGATGGGCCAGCGCCTCGC	0.617													T	50693732	C	T	50693732	2	4	27	1	0	0	0	0	0	0	0	1	9274	581	21	4		4	MAPK12	22	50693732	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	94602	50693732	610834	8376	32327											
PLXNB2	23654	broad.mit.edu	37	chr22	50722592	50722592	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcgatattcttgccgtaAgacttgacgtagaggtgcag	12	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:50722592A>G	uc003bkv.3	-	13	2338	c.2232T>C	c.(2230-2232)TCT>TCC	p.S744S	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	744	Extracellular (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCTTGCCGTAAGACTTGACGT	0.448													G	50722592	A	G	50722592	2	3	27	1	0	0	0	0	0	0	0	1	12124	59	3	3		3	PLXNB2	22	50722592	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	28860	50722592	581974	8377	32328											
SAPS2	9701	broad.mit.edu	37	chr22	50878428	50878428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagctctccggtggacaCagaatgcagccatgctgagg	14	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:50878428C>T	uc003blb.1	+	22	2746	c.2324C>T	c.(2323-2325)ACA>ATA	p.T775I	SAPS2_uc003bky.1_Missense_Mutation_p.T749I|SAPS2_uc003bkz.1_Missense_Mutation_p.T748I|SAPS2_uc003blc.2_Missense_Mutation_p.T775I|SAPS2_uc003bla.1_Missense_Mutation_p.T749I|SAPS2_uc003bld.1_Missense_Mutation_p.T308I	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2	775						cytoplasm|intracellular membrane-bounded organelle	protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.222)		CCGGTGGACACAGAATGCAGC	0.637													T	50878428	C	T	50878428	3	4	27	1	0	0	0	0	1	0	0	0	13837	478	17	4	2313	4	SAPS2	22	50878428	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	155836	50878428	426138	8378	32329											
NCAPH2	29781	broad.mit.edu	37	chr22	50956441	50956441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcccatggccctggtgGcccctgatgaaatggagaag	13	12	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:50956441G>A	uc003blr.3	+	6	582	c.460G>A	c.(460-462)GCC>ACC	p.A154T	NCAPH2_uc003blq.3_Missense_Mutation_p.A154T|NCAPH2_uc003blv.2_Missense_Mutation_p.A154T|NCAPH2_uc010hbb.2_Missense_Mutation_p.A5T|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Missense_Mutation_p.A154T|NCAPH2_uc003bly.3_RNA	NM_152299	NP_689512	Q6IBW4	CNDH2_HUMAN	kleisin beta isoform 2	154					chromosome condensation	chromosome|nucleus				ovary(1)|skin(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GGCCCTGGTGGCCCCTGATGA	0.622													A	50956441	G	A	50956441	3	1	27	1	0	0	0	0	1	0	0	0	10210	1203	42	2	482	2	NCAPH2	22	50956441	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	78013	50956441	348125	8379	32330											
ARSA	410	broad.mit.edu	37	chr22	51063611	51063611	+	Frame_Shift_Del	DEL	G	G	-													gcaatggcagcaagctgggcGgggggtgcagccaggatgac							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chr22:51063611delG	uc003bnb.3	-	9	1739	c.1486delC	c.(1486-1488)CGCfs	p.R496fs	ARSA_uc003bna.3_Frame_Shift_Del_p.R412fs|ARSA_uc003bnc.3_Frame_Shift_Del_p.R496fs|ARSA_uc003bnd.3_Frame_Shift_Del_p.R496fs|ARSA_uc003bmz.3_Frame_Shift_Del_p.R496fs	NM_001085426	NP_001078895	P15289	ARSA_HUMAN	arylsulfatase A isoform a precursor	496						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			pancreas(1)|skin(1)	2		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CAAGCTGGGCGGGGGGTGCAG	0.692													-	51063611	G	-	51063611	7	5	27	1	0	1	0	1	0	0	0	0	987	1116	39	0	41	0	ARSA	22	51063611	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	107170	51063611	240955	8380	32331											
PLCXD1	55344	broad.mit.edu	37	chrX	209792	209792	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgcgccggcaccacgagCtgtggccaggagtcccctac	12	17	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:209792C>T	uc004cpc.2	+	6	952	c.640C>T	c.(640-642)CTG>TTG	p.L214L	PLCXD1_uc011mgx.1_RNA	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X	214					intracellular signal transduction|lipid metabolic process		phospholipase C activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCACCACGAGCTGTGGCCAGG	0.637													T	209792	C	T	209792	2	4	27	1	0	0	0	0	0	0	0	1	12041	796	28	2		2	PLCXD1	23	209792	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08		209792	155060768	8381	32332											
PPP2R3B	28227	broad.mit.edu	37	chrX	302119	302119	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcttcccttccttctgCacttttctgcctctagatcg	5	15	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:302119C>G	uc004cpg.2	-	9	1299	c.1098G>C	c.(1096-1098)GTG>GTC	p.V366V	PPP2R3B_uc004cpf.2_5'UTR	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	366					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTTCCTTCTGCACTTTTCTGC	0.542													G	302119	C	G	302119	2	3	27	1	0	0	0	0	0	0	0	1	12389	697	25	5		5	PPP2R3B	23	302119	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	92327	302119	154968441	8382	32333											
PPP2R3B	28227	broad.mit.edu	37	chrX	306303	306303	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgatgagcaggtcgtggtcCgtgtccagctcccagaactt	12	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:306303C>T	uc004cpg.2	-	7	1185	c.984G>A	c.(982-984)ACG>ACA	p.T328T	PPP2R3B_uc011mha.1_Silent_p.T167T	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	328					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTCGTGGTCCGTGTCCAGCT	0.647													T	306303	C	T	306303	2	4	27	1	0	0	0	0	0	0	0	1	12389	639	23	1		1	PPP2R3B	23	306303	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4184	306303	154964257	8383	32334											
IL3RA	3563	broad.mit.edu	37	chrX	1471268	1471268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacggatgctcagggaacacGtatcgggtgtcgtttcgatg	14	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:1471268G>A	uc004cps.2	+	6	834	c.485G>A	c.(484-486)CGT>CAT	p.R162H	IL3RA_uc011mhd.1_Missense_Mutation_p.R84H	NM_002183	NP_002174	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha precursor	162	Extracellular (Potential).					integral to membrane|plasma membrane	interleukin-3 receptor activity			skin(2)|lung(1)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CAGGGAACACGTATCGGGTGT	0.592													A	1471268	G	A	1471268	3	1	27	1	0	0	0	0	1	0	0	0	7695	1145	40	1	503	1	IL3RA	23	1471268	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1164965	1471268	153799292	8384	32335											
SLC25A6	293	broad.mit.edu	37	chrX	1505571	1505571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgcaggacgttggaccacGcacccttgaagaaggccttg	12	14	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:1505571G>A	uc004cpt.2	-	4	917	c.821C>T	c.(820-822)GCG>GTG	p.A274V	SLC25A6_uc004cpu.2_RNA	NM_001636	NP_001627	P12236	ADT3_HUMAN	adenine nucleotide translocator 3	274	Helical; Name=6; (By similarity).|Solcar 3.				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GTTGGACCACGCACCCTTGAA	0.607													A	1505571	G	A	1505571	3	1	27	1	0	0	0	0	1	0	0	0	14513	1087	38	1	79	1	SLC25A6	23	1505571	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	34303	1505571	153764989	8385	32336											
SLC25A6	293	broad.mit.edu	37	chrX	1506206	1506206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgcatcatcatgcgccgCcgcaccgtgtcgaaggggta	13	13	2	0	rs141436047		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:1506206C>T	uc004cpt.2	-	3	801	c.705G>A	c.(703-705)CGG>CGA	p.R235R	SLC25A6_uc004cpu.2_RNA	NM_001636	NP_001627	P12236	ADT3_HUMAN	adenine nucleotide translocator 3	235	Helical; Name=5; (By similarity).|Substrate recognition (By similarity).|Solcar 3.				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	TCATGCGCCGCCGCACCGTGT	0.682													T	1506206	C	T	1506206	2	4	27	1	0	0	0	0	0	0	0	1	14513	726	26	2		2	SLC25A6	23	1506206	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	635	1506206	153764354	8386	32337											
SLC25A6	293	broad.mit.edu	37	chrX	1508486	1508486	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagttgagggcttgagtgggGaagtagcgaatgacgttggc	18	4	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:1508486G>T	uc004cpt.2	-	2	342	c.246C>A	c.(244-246)TTC>TTA	p.F82L	SLC25A6_uc004cpu.2_RNA	NM_001636	NP_001627	P12236	ADT3_HUMAN	adenine nucleotide translocator 3	82	Solcar 1.|Helical; Name=2; (By similarity).				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CTTGAGTGGGGAAGTAGCGAA	0.572													T	1508486	G	T	1508486	3	4	27	1	0	0	0	0	1	0	0	0	14513	1165	41	5	662	5	SLC25A6	23	1508486	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2280	1508486	153762074	8387	32338											
ASMTL	8623	broad.mit.edu	37	chrX	1522303	1522303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcagtctgcaccagcatGttcagtgactgcatcagggc	10	13	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:1522303G>A	uc004cpx.1	-	13	1836	c.1725C>T	c.(1723-1725)AAC>AAT	p.N575N	NCRNA00105_uc004cpv.2_Intron|NCRNA00105_uc004cpw.2_Intron|ASMTL_uc011mhe.1_Silent_p.N499N|ASMTL_uc004cpy.1_Silent_p.N559N|ASMTL_uc011mhf.1_Silent_p.N517N	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	575	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCACCAGCATGTTCAGTGACT	0.647													A	1522303	G	A	1522303	2	1	27	1	0	0	0	0	0	0	0	1	1046	1368	48	4		4	ASMTL	23	1522303	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	13817	1522303	153748257	8388	32339											
ASMTL	8623	broad.mit.edu	37	chrX	1540734	1540734	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtctctgtgttactgtaAcctggagaaatggggacagt	13	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:1540734A>G	uc004cpx.1	-	9	1173	c.1062T>C	c.(1060-1062)GGT>GGC	p.G354G	ASMTL_uc011mhe.1_Silent_p.G278G|ASMTL_uc004cpy.1_Silent_p.G338G|ASMTL_uc011mhf.1_Silent_p.G296G	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	354	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGTTACTGTAACCTGGAGAAA	0.473													G	1540734	A	G	1540734	2	3	27	1	0	0	0	0	0	0	0	1	1046	57	2	3		3	ASMTL	23	1540734	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	18431	1540734	153729826	8389	32340											
P2RY8	286530	broad.mit.edu	37	chrX	1584391	1584391	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcagaacacactctcctgcCtctggaggccgggcctggtg	12	15	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:1584391C>A	uc004cpz.2	-	2	1309	c.1061G>T	c.(1060-1062)AGG>ATG	p.R354M		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	354	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACTCTCCTGCCTCTGGAGGCC	0.706			T	CRLF2	B-ALL|Downs associated ALL								A	1584391	C	A	1584391	3	1	27	1	0	0	0	0	1	0	0	0	11355	681	24	5	22	5	P2RY8	23	1584391	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	43657	1584391	153686169	8390	32341											
P2RY8	286530	broad.mit.edu	37	chrX	1585104	1585104	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaagcgctccacgctgatAcaggtcatggtgaggatgct	14	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:1585104A>G	uc004cpz.2	-	2	596	c.348T>C	c.(346-348)TGT>TGC	p.C116C		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	116	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCACGCTGATACAGGTCATGG	0.622			T	CRLF2	B-ALL|Downs associated ALL								G	1585104	A	G	1585104	2	3	27	1	0	0	0	0	0	0	0	1	11355	389	14	3		3	P2RY8	23	1585104	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	713	1585104	153685456	8391	32342											
SFRS17A	8227	broad.mit.edu	37	chrX	1712482	1712482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgcagctgaagcagccgGggaagtccatctccaactgg	12	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:1712482G>A	uc004cqa.2	+	2	323	c.127G>A	c.(127-129)GGG>AGG	p.G43R	SFRS17A_uc010ncx.1_Missense_Mutation_p.G43R|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	43					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAAGCAGCCGGGGAAGTCCAT	0.587													A	1712482	G	A	1712482	3	1	27	1	0	0	0	0	1	0	0	0	14173	1232	43	4	129	4	SFRS17A	23	1712482	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	127378	1712482	153558078	8392	32343											
DHRSX	207063	broad.mit.edu	37	chrX	2161159	2161159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaccccggggtccaccaCgttggcggtcacgtggcttc	13	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:2161159C>T	uc004cqf.3	-	6	758	c.709G>A	c.(709-711)GTG>ATG	p.V237M		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	237							binding|oxidoreductase activity				0		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GGGTCCACCACGTTGGCGGTC	0.632													T	2161159	C	T	2161159	3	4	27	1	0	0	0	0	1	0	0	0	4499	536	19	1	291	1	DHRSX	23	2161159	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	448677	2161159	153109401	8393	32344											
ZBED1	9189	broad.mit.edu	37	chrX	2408217	2408217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagctccttcaggatcacctCccggacggccccgtacttct	8	18	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:2408217C>T	uc004cqg.2	-	2	745	c.544G>A	c.(544-546)GAG>AAG	p.E182K	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.E182K	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	182						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGATCACCTCCCGGACGGCC	0.632													T	2408217	C	T	2408217	3	4	27	1	0	0	0	0	1	0	0	0	17514	864	30	4	1544	4	ZBED1	23	2408217	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	247058	2408217	152862343	8394	32345											
ZBED1	9189	broad.mit.edu	37	chrX	2408366	2408366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcccctcgcagatgaggCccagcacggcggccgtcagc	13	17	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:2408366C>T	uc004cqg.2	-	2	596	c.395G>A	c.(394-396)GGC>GAC	p.G132D	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.G132D	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	132						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCAGATGAGGCCCAGCACGGC	0.701													T	2408366	C	T	2408366	3	4	27	1	0	0	0	0	1	0	0	0	17514	739	26	2	1693	2	ZBED1	23	2408366	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	149	2408366	152862194	8395	32346											
ARSE	415	broad.mit.edu	37	chrX	2856150	2856150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtacctgtcctggggcacCtcgccgcccgccagccggac	12	19	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:2856150C>T	uc004crc.3	-	9	1525	c.1275G>A	c.(1273-1275)GAG>GAA	p.E425E	ARSE_uc011mhi.1_Silent_p.E371E|ARSE_uc011mhh.1_Silent_p.E450E	NM_000047	NP_000038	P51690	ARSE_HUMAN	arylsulfatase E precursor	425					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGGGGCACCTCGCCGCCCG	0.597													T	2856150	C	T	2856150	2	4	27	1	0	0	0	0	0	0	0	1	990	680	24	4		4	ARSE	23	2856150	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	447784	2856150	152414410	8396	32347											
ARSE	415	broad.mit.edu	37	chrX	2861128	2861128	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttataaattccattccagccAccatactgggtgtttccaag	6	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:2861128A>T	uc004crc.3	-	8	1354	c.1104T>A	c.(1102-1104)GGT>GGA	p.G368G	ARSE_uc011mhi.1_Silent_p.G314G|ARSE_uc011mhh.1_Silent_p.G393G	NM_000047	NP_000038	P51690	ARSE_HUMAN	arylsulfatase E precursor	368					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATTCCAGCCACCATACTGGG	0.463													T	2861128	A	T	2861128	2	4	27	1	0	0	0	0	0	0	0	1	990	146	6	5		5	ARSE	23	2861128	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	4978	2861128	152409432	8397	32348											
ARSF	416	broad.mit.edu	37	chrX	3019162	3019162	+	Frame_Shift_Del	DEL	A	A	-													gctatcgatgattttggcctAaggaacaacacccttgtcta							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:3019161_3019161TA>T	uc022brz.1	+	7	1137	c.1001_1001TA>T	c.(1000-1002)ctafs	p.L334fs	ARSF_uc004cre.2_Frame_Shift_Del_p.L334fs|ARSF_uc004crf.2_Frame_Shift_Del_p.L334fs	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	334						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GATTTTGGCCTAAGGAACAAC	0.393													-	3019162	A	-	3019162	7	5	27	1	0	1	0	1	0	0	0	0	991	349	13	0	1028	0	ARSF	23	3019162	Frame_Shift_Del	DEL	A	TCGA-BR-6452-01A-12D-1800-08	158034	3019162	152251398	8398	32349											
MXRA5	25878	broad.mit.edu	37	chrX	3229042	3229042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttctgaataaggagagtgCcatcttggtatatctgatac	9	7	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:3229042C>T	uc004crg.3	-	7	7359	c.7202G>A	c.(7201-7203)GGC>GAC	p.G2401D		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2401	Ig-like C2-type 8.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAGGAGAGTGCCATCTTGGTA	0.532													T	3229042	C	T	3229042	3	4	27	1	0	0	0	0	1	0	0	0	10003	739	26	2	1288	2	MXRA5	23	3229042	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	209880	3229042	152041518	8399	32350											
MXRA5	25878	broad.mit.edu	37	chrX	3239357	3239357	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttgatcaagggtggtggTttctgcctgacttgaagcca	12	8	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:3239357T>C	uc004crg.3	-	5	4526	c.4369A>G	c.(4369-4371)ACC>GCC	p.T1457A		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1457						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGGGTGGTGGTTTCTGCCTGA	0.483													C	3239357	T	C	3239357	3	2	27	1	0	0	0	0	1	0	0	0	10003	1725	60	3	4129	3	MXRA5	23	3239357	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	10315	3239357	152031203	8400	32351											
MXRA5	25878	broad.mit.edu	37	chrX	3239946	3239946	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttctatgtttattttctggAgaagggctgggcttggatcc	12	6	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:3239946A>T	uc004crg.3	-	5	3937	c.3780T>A	c.(3778-3780)TCT>TCA	p.S1260S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1260						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TATTTTCTGGAGAAGGGCTGG	0.453													T	3239946	A	T	3239946	2	4	27	1	0	0	0	0	0	0	0	1	10003	291	11	5		5	MXRA5	23	3239946	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	589	3239946	152030614	8401	32352											
MXRA5	25878	broad.mit.edu	37	chrX	3240584	3240584	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taaggtgtcttgagtgcttaGactacttttcacaaggtgga	11	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:3240584G>T	uc004crg.3	-	5	3299	c.3142C>A	c.(3142-3144)CTA>ATA	p.L1048I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1048						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGAGTGCTTAGACTACTTTTC	0.448													T	3240584	G	T	3240584	3	4	27	1	0	0	0	0	1	0	0	0	10003	933	33	5	5356	5	MXRA5	23	3240584	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	638	3240584	152029976	8402	32353											
NLGN4X	57502	broad.mit.edu	37	chrX	5811353	5811353	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaggccctgttttgtgaggGtccttagagtgtttgggatt	14	6	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:5811353G>T	uc010ndh.2	-	6	2457	c.1956C>A	c.(1954-1956)GAC>GAA	p.D652E	NLGN4X_uc004crp.2_Missense_Mutation_p.D672E|NLGN4X_uc004crq.2_Missense_Mutation_p.D652E|NLGN4X_uc010ndi.2_Missense_Mutation_p.D689E|NLGN4X_uc004crr.2_Missense_Mutation_p.D652E|NLGN4X_uc010ndj.2_Missense_Mutation_p.D652E	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	652	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						TTTTGTGAGGGTCCTTAGAGT	0.532													T	5811353	G	T	5811353	3	4	27	1	0	0	0	0	1	0	0	0	10464	1252	44	5	498	5	NLGN4X	23	5811353	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2570769	5811353	149459207	8403	32354											
NLGN4X	57502	broad.mit.edu	37	chrX	5827247	5827247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccaggagcccatagttgCcttttgctgcctggtcaccg	11	13	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:5827247C>T	uc010ndh.2	-	4	1160	c.659G>A	c.(658-660)GGC>GAC	p.G220D	NLGN4X_uc004crp.2_Missense_Mutation_p.G240D|NLGN4X_uc004crq.2_Missense_Mutation_p.G220D|NLGN4X_uc010ndi.2_Missense_Mutation_p.G257D|NLGN4X_uc004crr.2_Missense_Mutation_p.G220D|NLGN4X_uc010ndj.2_Missense_Mutation_p.G220D	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	220	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						CCCATAGTTGCCTTTTGCTGC	0.483													T	5827247	C	T	5827247	3	4	27	1	0	0	0	0	1	0	0	0	10464	739	26	2	1803	2	NLGN4X	23	5827247	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	15894	5827247	149443313	8404	32355											
NLGN4X	57502	broad.mit.edu	37	chrX	6069309	6069309	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtactgctccactggacccaAgatctcattgggtaacggtg	11	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:6069309A>G	uc010ndh.2	-	2	700	c.199T>C	c.(199-201)TTG>CTG	p.L67L	NLGN4X_uc004crp.2_Silent_p.L67L|NLGN4X_uc004crq.2_Silent_p.L67L|NLGN4X_uc010ndi.2_Silent_p.L67L|NLGN4X_uc004crr.2_Silent_p.L67L|NLGN4X_uc010ndj.2_Silent_p.L67L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	67	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						ACTGGACCCAAGATCTCATTG	0.547													G	6069309	A	G	6069309	2	3	27	1	0	0	0	0	0	0	0	1	10464	69	3	3		3	NLGN4X	23	6069309	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	242062	6069309	149201251	8405	32356											
WWC3	55841	broad.mit.edu	37	chrX	10058909	10058909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcaagaaggccatttgcaCaggcgagaaggagaggcggg	16	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:10058909C>T	uc004csx.3	+	6	674	c.476C>T	c.(475-477)ACA>ATA	p.T159I	WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	159										ovary(4)	4						GCCATTTGCACAGGCGAGAAG	0.448													T	10058909	C	T	10058909	3	4	27	1	0	0	0	0	1	0	0	0	17410	478	17	4	494	4	WWC3	23	10058909	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3989600	10058909	145211651	8406	32357											
WWC3	55841	broad.mit.edu	37	chrX	10077876	10077876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagtcctggccaagcacgGccgaggctgacagggaccgg	16	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:10077876G>A	uc004csx.3	+	9	988	c.790G>A	c.(790-792)GCC>ACC	p.A264T	WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	264	Potential.									ovary(4)	4						GCCAAGCACGGCCGAGGCTGA	0.617													A	10077876	G	A	10077876	3	1	27	1	0	0	0	0	1	0	0	0	17410	1203	42	2	820	2	WWC3	23	10077876	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	18967	10077876	145192684	8407	32358											
WWC3	55841	broad.mit.edu	37	chrX	10096688	10096688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggccaagctggagtacaCggaggaggaggtcctggaga	19	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:10096688C>T	uc004csx.3	+	17	2570	c.2372C>T	c.(2371-2373)ACG>ATG	p.T791M	WWC3_uc010nds.2_Missense_Mutation_p.T455M|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	791	Potential.									ovary(4)	4						CTGGAGTACACGGAGGAGGAG	0.667													T	10096688	C	T	10096688	3	4	27	1	0	0	0	0	1	0	0	0	17410	536	19	1	2434	1	WWC3	23	10096688	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	18812	10096688	145173872	8408	32359											
MID1	4281	broad.mit.edu	37	chrX	10437780	10437780	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatggtgtactggagctcGtaggagaccacgctgaactc	12	9	0	2	rs142718564	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:10437780G>A	uc004cte.3	-	7	1433	c.1242C>T	c.(1240-1242)TAC>TAT	p.Y414Y	MID1_uc004ctd.3_Silent_p.Y125Y|MID1_uc004ctg.3_Silent_p.Y414Y|MID1_uc004cth.3_Silent_p.Y376Y|MID1_uc004ctk.3_Silent_p.Y414Y|MID1_uc004cti.3_Silent_p.Y414Y|MID1_uc004ctj.3_Silent_p.Y414Y|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Silent_p.Y465Y|MID1_uc004ctn.1_Silent_p.Y414Y|MID1_uc004cto.1_Silent_p.Y376Y|MID1_uc004csz.3_Silent_p.Y86Y|MID1_uc004cta.3_Silent_p.Y170Y|MID1_uc004ctb.3_Silent_p.Y74Y|MID1_uc004ctc.3_Silent_p.Y181Y|MID1_uc004ctl.1_Silent_p.Y170Y	NM_033290	NP_150632	O15344	TRI18_HUMAN	midline 1	414	Fibronectin type-III.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|pancreas(1)	3						ACTGGAGCTCGTAGGAGACCA	0.478													A	10437780	G	A	10437780	2	1	27	1	0	0	0	0	0	0	0	1	9576	1140	40	1		1	MID1	23	10437780	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	341092	10437780	144832780	8409	32360											
ARHGAP6	395	broad.mit.edu	37	chrX	11157336	11157336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggcccggctctgcagccCggccacatccagctcactct	10	18	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:11157336C>T	uc004cup.1	-	13	3445	c.2572G>A	c.(2572-2574)GGG>AGG	p.G858R	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cum.1_Missense_Mutation_p.G655R|ARHGAP6_uc004cun.1_Missense_Mutation_p.G678R	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	858					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			urinary_tract(1)|lung(1)	2						CTCTGCAGCCCGGCCACATCC	0.701													T	11157336	C	T	11157336	3	4	27	1	0	0	0	0	1	0	0	0	887	652	23	1	356	1	ARHGAP6	23	11157336	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	719556	11157336	144113224	8410	32361											
FRMPD4	9758	broad.mit.edu	37	chrX	12734369	12734369	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcaccggcacttgtacatAgacaatgcctatagttcaga	9	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:12734369A>G	uc004cuz.1	+	15	2297	c.1791A>G	c.(1789-1791)ATA>ATG	p.I597M	FRMPD4_uc011mij.1_Missense_Mutation_p.I589M	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	597					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						ACTTGTACATAGACAATGCCT	0.517													G	12734369	A	G	12734369	3	3	27	1	0	0	0	0	1	0	0	0	6059	410	15	3	1849	3	FRMPD4	23	12734369	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1577033	12734369	142536191	8411	32362											
FRMPD4	9758	broad.mit.edu	37	chrX	12736059	12736059	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgatggtgaggggaaggcAccccctaatgggaacacaac	14	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:12736059A>G	uc004cuz.1	+	16	3620	c.3114A>G	c.(3112-3114)GCA>GCG	p.A1038A	FRMPD4_uc011mij.1_Silent_p.A1030A	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1038					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						AGGGGAAGGCACCCCCTAATG	0.517													G	12736059	A	G	12736059	2	3	27	1	0	0	0	0	0	0	0	1	6059	146	6	3		3	FRMPD4	23	12736059	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1690	12736059	142534501	8412	32363											
TLR7	51284	broad.mit.edu	37	chrX	12903718	12903718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccttggggctagatggtttCctaaaactctgccctgtgat	10	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:12903718C>T	uc004cvc.2	+	3	230	c.91C>T	c.(91-93)CCT>TCT	p.P31S		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	31	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)	TAGATGGTTTCCTAAAACTCT	0.413													T	12903718	C	T	12903718	3	4	27	1	0	0	0	0	1	0	0	0	15953	855	30	4	97	4	TLR7	23	12903718	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	167659	12903718	142366842	8413	32364											
TLR7	51284	broad.mit.edu	37	chrX	12904491	12904491	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtaaatgcttttgatgcGctgacagaattaaaagtttt	8	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:12904491G>A	uc004cvc.2	+	3	1003	c.864G>A	c.(862-864)GCG>GCA	p.A288A		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	288	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)	CTTTTGATGCGCTGACAGAAT	0.423													A	12904491	G	A	12904491	2	1	27	1	0	0	0	0	0	0	0	1	15953	1074	38	1		1	TLR7	23	12904491	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	773	12904491	142366069	8414	32365											
TLR8	51311	broad.mit.edu	37	chrX	12937960	12937960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaatgccccatttccatgCgtgccttgtgatggtggtgc	11	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:12937960C>T	uc004cve.2	+	2	869	c.801C>T	c.(799-801)TGC>TGT	p.C267C	TLR8_uc004cvd.2_Silent_p.C285C	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	267	Extracellular (Potential).|LRR 6.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						CATTTCCATGCGTGCCTTGTG	0.398													T	12937960	C	T	12937960	2	4	27	1	0	0	0	0	0	0	0	1	15954	776	27	1		1	TLR8	23	12937960	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	33469	12937960	142332600	8415	32366											
TLR8	51311	broad.mit.edu	37	chrX	12938031	12938031	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacttgacccaacttcgatAcctaaacctctctagcactt	3	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:12938031A>G	uc004cve.2	+	2	940	c.872A>G	c.(871-873)TAC>TGC	p.Y291C	TLR8_uc004cvd.2_Missense_Mutation_p.Y309C	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	291	LRR 7.|Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						CAACTTCGATACCTAAACCTC	0.423													G	12938031	A	G	12938031	3	3	27	1	0	0	0	0	1	0	0	0	15954	391	14	3	878	3	TLR8	23	12938031	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	71	12938031	142332529	8416	32367											
TLR8	51311	broad.mit.edu	37	chrX	12939437	12939437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatccgcacttgaaactaagAccaccaccaaattatctatg	4	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:12939437A>G	uc004cve.2	+	2	2346	c.2278A>G	c.(2278-2280)ACC>GCC	p.T760A	TLR8_uc004cvd.2_Missense_Mutation_p.T778A	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	760	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						TGAAACTAAGACCACCACCAA	0.418													G	12939437	A	G	12939437	3	3	27	1	0	0	0	0	1	0	0	0	15954	275	10	3	2284	3	TLR8	23	12939437	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1406	12939437	142331123	8417	32368											
ATXN3L	92552	broad.mit.edu	37	chrX	13337200	13337200	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctgatgcttttcaaaatagTcttcttttattttcttcggc	6	8	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:13337200T>A	uc010ned.2	-	1	1319	c.854A>T	c.(853-855)GAC>GTC	p.D285V		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	285					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			lung(2)|ovary(2)|large_intestine(1)|skin(1)	6						TTCAAAATAGTCTTCTTTTAT	0.448													A	13337200	T	A	13337200	3	1	27	1	0	0	0	0	1	0	0	0	1214	1667	58	5	217	5	ATXN3L	23	13337200	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	397763	13337200	141933360	8418	32369											
ATXN3L	92552	broad.mit.edu	37	chrX	13337424	13337424	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactttcttctgatactttTtcaaggactgttttatagac	5	8	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:13337424T>C	uc010ned.2	-	1	1095	c.630A>G	c.(628-630)GAA>GAG	p.E210E		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	210					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			lung(2)|ovary(2)|large_intestine(1)|skin(1)	6						CTGATACTTTTTCAAGGACTG	0.388													C	13337424	T	C	13337424	2	2	27	1	0	0	0	0	0	0	0	1	1214	1838	64	3		3	ATXN3L	23	13337424	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	224	13337424	141933136	8419	32370											
EGFL6	25975	broad.mit.edu	37	chrX	13624572	13624572	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaacacatttggaagctacTactgcaaatgtcacattggt	8	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:13624572T>C	uc004cvi.2	+	6	835	c.595T>C	c.(595-597)TAC>CAC	p.Y199H	EGFL6_uc004cvj.2_Missense_Mutation_p.Y199H|EGFL6_uc011mik.1_Missense_Mutation_p.Y100H	NM_015507	NP_056322	Q8IUX8	EGFL6_HUMAN	epidermal growth factor-like protein 6	199	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)	2						TGGAAGCTACTACTGCAAATG	0.413													C	13624572	T	C	13624572	3	2	27	1	0	0	0	0	1	0	0	0	4963	1522	53	3	617	3	EGFL6	23	13624572	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	287148	13624572	141645988	8420	32371											
EGFL6	25975	broad.mit.edu	37	chrX	13645222	13645222	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctgacctgcaaccccaaAgcaacttctgtttgctcttt	5	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:13645222A>C	uc004cvi.2	+	11	1618	c.1378A>C	c.(1378-1380)AGC>CGC	p.S460R	EGFL6_uc004cvj.2_Missense_Mutation_p.S461R	NM_015507	NP_056322	Q8IUX8	EGFL6_HUMAN	epidermal growth factor-like protein 6	460	MAM.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)	2						GCAACCCCAAAGCAACTTCTG	0.478													C	13645222	A	C	13645222	3	2	27	1	0	0	0	0	1	0	0	0	4963	72	3	5	1423	5	EGFL6	23	13645222	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	20650	13645222	141625338	8421	32372											
OFD1	8481	broad.mit.edu	37	chrX	13753379	13753379	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttttagtccaacatgtttAccgtggctgatgtgttgagt	10	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:13753379A>G	uc004cvp.3	+	2	384	c.25A>G	c.(25-27)ACC>GCC	p.T9A	OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_5'UTR|OFD1_uc010nen.2_Missense_Mutation_p.T8A|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.T8A|OFD1_uc004cvv.3_Missense_Mutation_p.T8A|TRAPPC2_uc010nek.1_5'Flank|TRAPPC2_uc010nel.1_5'Flank|TRAPPC2_uc010nem.1_5'Flank	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	9					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding				0						CAACATGTTTACCGTGGCTGA	0.473													G	13753379	A	G	13753379	3	3	27	1	0	0	0	0	1	0	0	0	10838	391	14	3	31	3	OFD1	23	13753379	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	108157	13753379	141517181	8422	32373											
FANCB	2187	broad.mit.edu	37	chrX	14871245	14871245	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaataattttttccttAagcaacagatgctgccgtaa	6	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:14871245A>C	uc004cwg.1	-	6	1510	c.1242T>G	c.(1240-1242)CTT>CTG	p.L414L	FANCB_uc004cwh.1_Silent_p.L414L	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B	414					DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)					TTTTTTCCTTAAGCAACAGAT	0.323								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				C	14871245	A	C	14871245	2	2	27	1	0	0	0	0	0	0	0	1	5663	349	13	5		5	FANCB	23	14871245	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1117866	14871245	140399315	8423	32374											
ASB11	140456	broad.mit.edu	37	chrX	15306011	15306011	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccttggttaccttcacggAgcaagagtgcctgctccacg	11	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:15306011A>G	uc004cwp.1	-	6	839	c.839T>C	c.(838-840)CTC>CCC	p.L280P	ASB11_uc004cwo.1_Missense_Mutation_p.L259P|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Missense_Mutation_p.L263P	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box-containing protein	280	SOCS box.				intracellular signal transduction					breast(2)|skin(1)	3	Hepatocellular(33;0.183)					ACCTTCACGGAGCAAGAGTGC	0.493													G	15306011	A	G	15306011	3	3	27	1	0	0	0	0	1	0	0	0	1015	304	11	3	140	3	ASB11	23	15306011	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	434766	15306011	139964549	8424	32375											
BMX	660	broad.mit.edu	37	chrX	15540632	15540632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactcaaagaaaatctatgGctcccagccaaacttcaaca	4	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:15540632G>A	uc004cww.2	+	7	862	c.674G>A	c.(673-675)GGC>GAC	p.G225D	BMX_uc004cwx.3_Missense_Mutation_p.G225D|BMX_uc004cwy.3_Missense_Mutation_p.G225D	NM_203281	NP_975010	P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	225					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(3)|ovary(2)	5	Hepatocellular(33;0.183)					AAAATCTATGGCTCCCAGCCA	0.448													A	15540632	G	A	15540632	3	1	27	1	0	0	0	0	1	0	0	0	1473	1203	42	2	696	2	BMX	23	15540632	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	234621	15540632	139729928	8425	32376											
BMX	660	broad.mit.edu	37	chrX	15560311	15560311	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagagtcaccaattcatacAccgggacttggtaagcaaag	11	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:15560311A>G	uc004cww.2	+	15	1789	c.1601A>G	c.(1600-1602)CAC>CGC	p.H534R	BMX_uc004cwx.3_Missense_Mutation_p.H534R|BMX_uc004cwy.3_Missense_Mutation_p.H534R	NM_203281	NP_975010	P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	534	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(3)|ovary(2)	5	Hepatocellular(33;0.183)					CAATTCATACACCGGGACTTG	0.493													G	15560311	A	G	15560311	3	3	27	1	0	0	0	0	1	0	0	0	1473	159	6	3	1655	3	BMX	23	15560311	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	19679	15560311	139710249	8426	32377											
GRPR	2925	broad.mit.edu	37	chrX	16168543	16168543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggccattccagaggccGtgttttctgacctccatccc	9	15	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:16168543G>A	uc004cxj.2	+	2	1182	c.529G>A	c.(529-531)GTG>ATG	p.V177M		NM_005314	NP_005305	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	177	Extracellular (Potential).				cell proliferation	integral to plasma membrane	bombesin receptor activity			ovary(3)|lung(1)	4	Hepatocellular(33;0.183)					TCCAGAGGCCGTGTTTTCTGA	0.527													A	16168543	G	A	16168543	3	1	27	1	0	0	0	0	1	0	0	0	6808	1145	40	1	535	1	GRPR	23	16168543	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	608232	16168543	139102017	8427	32378											
TXLNG	55787	broad.mit.edu	37	chrX	16846369	16846369	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcagagaacttcagcgTcacaataagacgttaaaggt	9	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:16846369T>C	uc004cxq.1	+	4	702	c.651T>C	c.(649-651)CGT>CGC	p.R217R	TXLNG_uc010ney.1_Silent_p.R85R	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	217	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1						AACTTCAGCGTCACAATAAGA	0.393													C	16846369	T	C	16846369	2	2	27	1	0	0	0	0	0	0	0	1	16786	1654	58	3		3	TXLNG	23	16846369	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	677826	16846369	138424191	8428	32379											
TXLNG	55787	broad.mit.edu	37	chrX	16847845	16847845	+	Frame_Shift_Del	DEL	G	G	-													cgacaggaaaacattgagctGggggagaagctaaagaagct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:16847844_16847844TG>T	uc004cxq.2	+	4	871	c.815_815TG>T	c.(814-816)ctgfs	p.L272fs	TXLNG_uc010ney.2_Frame_Shift_Del_p.L140fs	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	Homo sapiens taxilin gamma (TXLNG), transcript variant 1, mRNA.	272					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						AACATTGAGCTGGGGGAGAAG	0.448													-	16847845	G	-	16847845	7	5	27	1	0	1	0	1	0	0	0	0	16786	1335	47	0	834	0	TXLNG	23	16847845	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	1476	16847845	138422715	8429	32380											
TXLNG	55787	broad.mit.edu	37	chrX	16857989	16857989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaagaaacaataatttggCgtaccaaatgggaaaacaat	7	5	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:16857989C>T	uc004cxq.1	+	9	1249	c.1198C>T	c.(1198-1200)CGT>TGT	p.R400C	TXLNG_uc010ney.1_Missense_Mutation_p.R268C	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	400	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1						AATAATTTGGCGTACCAAATG	0.373													T	16857989	C	T	16857989	3	4	27	1	0	0	0	0	1	0	0	0	16786	768	27	1	1232	1	TXLNG	23	16857989	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	10144	16857989	138412571	8430	32381											
REPS2	9185	broad.mit.edu	37	chrX	17040368	17040368	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacagaaaaaaattccttcAaaagaatggacgatgaggat	8	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:17040368A>G	uc004cxv.1	+	3	691	c.520A>G	c.(520-522)AAA>GAA	p.K174E	REPS2_uc004cxw.1_Missense_Mutation_p.K174E|REPS2_uc011miw.1_Missense_Mutation_p.K34E	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	174					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			skin(2)|central_nervous_system(1)	3	Hepatocellular(33;0.183)					AAATTCCTTCAAAAGAATGGA	0.403													G	17040368	A	G	17040368	3	3	27	1	0	0	0	0	1	0	0	0	13229	131	5	3	530	3	REPS2	23	17040368	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	182379	17040368	138230192	8431	32382											
REPS2	9185	broad.mit.edu	37	chrX	17156996	17156996	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggcagtcttccaaacagaAgaaggccattcaaactgcta	8	10	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:17156996A>G	uc004cxv.1	+	17	1997	c.1826A>G	c.(1825-1827)AAG>AGG	p.K609R	REPS2_uc004cxw.1_Missense_Mutation_p.K608R|REPS2_uc011miw.1_Missense_Mutation_p.K407R	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	609	Interaction with ASAP1 (By similarity).|Interaction with RALBP1.|Potential.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			skin(2)|central_nervous_system(1)	3	Hepatocellular(33;0.183)					TCCAAACAGAAGAAGGCCATT	0.473													G	17156996	A	G	17156996	3	3	27	1	0	0	0	0	1	0	0	0	13229	72	3	3	1892	3	REPS2	23	17156996	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	116628	17156996	138113564	8432	32383											
NHS	4810	broad.mit.edu	37	chrX	17742447	17742447	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgacagagaggctagtatAcgctgctctctggttcattc	10	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:17742447A>G	uc004cxx.2	+	5	1412	c.1074A>G	c.(1072-1074)ATA>ATG	p.I358M	NHS_uc011mix.1_Missense_Mutation_p.I379M|NHS_uc004cxy.2_Missense_Mutation_p.I202M|NHS_uc004cxz.2_Missense_Mutation_p.I181M|NHS_uc004cya.2_Missense_Mutation_p.I81M	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	358						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					AGGCTAGTATACGCTGCTCTC	0.433													G	17742447	A	G	17742447	3	3	27	1	0	0	0	0	1	0	0	0	10411	381	14	3	1197	3	NHS	23	17742447	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	585451	17742447	137528113	8433	32384											
SCML1	6322	broad.mit.edu	37	chrX	17768146	17768146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactttaccagtgtcaaggCgtgagaataattccccgagc	9	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:17768146C>T	uc004cyb.2	+	6	761	c.436C>T	c.(436-438)CGT>TGT	p.R146C	SCML1_uc004cyc.2_Missense_Mutation_p.R119C|SCML1_uc004cyd.2_Missense_Mutation_p.R25C|SCML1_uc004cye.2_Missense_Mutation_p.R25C	NM_001037540	NP_001032629	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 isoform a	146					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)	3	Hepatocellular(33;0.183)					AGTGTCAAGGCGTGAGAATAA	0.483													T	17768146	C	T	17768146	3	4	27	1	0	0	0	0	1	0	0	0	13909	768	27	1	457	1	SCML1	23	17768146	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	25699	17768146	137502414	8434	32385											
BEND2	139105	broad.mit.edu	37	chrX	18213471	18213471	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatatggggcactcgtattTcccgataaagctgggtaata	12	7	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:18213471T>C	uc004cyj.3	-	7	1279	c.1125A>G	c.(1123-1125)GGA>GGG	p.G375G	BEND2_uc010nfb.2_Intron	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	375										ovary(3)|kidney(1)|central_nervous_system(1)	5						CACTCGTATTTCCCGATAAAG	0.403													C	18213471	T	C	18213471	2	2	27	1	0	0	0	0	0	0	0	1	1398	1770	62	3		3	BEND2	23	18213471	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	445325	18213471	137057089	8435	32386											
BEND2	139105	broad.mit.edu	37	chrX	18230770	18230770	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaatgtactgggtggtttAtctgtgaaactatttggtca	10	4	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:18230770A>G	uc004cyj.3	-	4	561	c.407T>C	c.(406-408)ATA>ACA	p.I136T	BEND2_uc010nfb.2_Missense_Mutation_p.I136T	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	136										ovary(3)|kidney(1)|central_nervous_system(1)	5						TGGGTGGTTTATCTGTGAAAC	0.353													G	18230770	A	G	18230770	3	3	27	1	0	0	0	0	1	0	0	0	1398	449	16	3	2062	3	BEND2	23	18230770	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	17299	18230770	137039790	8436	32387											
SCML2	10389	broad.mit.edu	37	chrX	18260691	18260691	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggacactgggatcaggTacagctatataacttggagc	11	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:18260691T>C	uc004cyl.2	-	14	1999	c.1842A>G	c.(1840-1842)GTA>GTG	p.V614V	SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Intron|SCML2_uc011miz.1_Intron|SCML2_uc010nfc.2_Intron	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	614					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)					TGGGATCAGGTACAGCTATAT	0.408													C	18260691	T	C	18260691	2	2	27	1	0	0	0	0	0	0	0	1	13910	1625	57	3		3	SCML2	23	18260691	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	29921	18260691	137009869	8437	32388											
SCML2	10389	broad.mit.edu	37	chrX	18264788	18264789	+	Missense_Mutation	DNP	CA	CA	GG													ggtgaacttgtggtgcctggCacacttcgagaaaaatcctg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:18264788_18264789CA>GG	uc004cyl.2	-	13	1887_1888	c.1730_1731TG>CC	c.(1729-1731)GTG>GCC	p.V577A	SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.V577A|SCML2_uc011miz.1_Missense_Mutation_p.V511A|SCML2_uc010nfc.2_Missense_Mutation_p.V313A	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	577					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)					TGGTGCCTGGCACACTTCGAGA	0.416													GG	18264789	CA	GG	18264788	3	3	27	1	0	0	0	0	1	0	0	0	13910	697	25	5	383	5	SCML2	23	18264788	Missense_Mutation	DNP	CA	TCGA-BR-6452-01A-12D-1800-08	4097	18264788	137005772	8438	32389											
SCML2	10389	broad.mit.edu	37	chrX	18323103	18323104	+	Frame_Shift_Ins	INS	-	-	G													tatcttaccactagttcctgINSggggttgtaatacatctcct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:18323102_18323103T>TG	uc004cyl.2	-	6	876_877	c.719_720A>CA	c.(718-720)ccafs	p.P240fs	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Frame_Shift_Ins_p.P240fs|SCML2_uc011miz.1_Frame_Shift_Ins_p.P174fs	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	240					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CACTAGTTCCTGGGGGTTGTAA	0.421													G	18323104	-	G	18323103	7	5	27	1	0	1	1	0	0	0	0	0	13910	1348	47	0	1419	0	SCML2	23	18323103	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	58315	18323103	136947457	8439	32390											
CDKL5	6792	broad.mit.edu	37	chrX	18622481	18622481	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attccccagtcctctaggagTccctcctacaggaccaaggc	8	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:18622481T>A	uc004cym.2	+	12	1690	c.1437T>A	c.(1435-1437)AGT>AGA	p.S479R	CDKL5_uc004cyn.2_Missense_Mutation_p.S479R	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	479					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					CCTCTAGGAGTCCCTCCTACA	0.522													A	18622481	T	A	18622481	3	1	27	1	0	0	0	0	1	0	0	0	3157	1664	58	5	1479	5	CDKL5	23	18622481	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	299378	18622481	136648079	8440	32391											
CDKL5	6792	broad.mit.edu	37	chrX	18646626	18646626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcagaaattcggattcacCccctgagccaggcctctggc	9	15	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:18646626C>T	uc004cym.2	+	18	2885	c.2632C>T	c.(2632-2634)CCC>TCC	p.P878S	CDKL5_uc004cyn.2_Missense_Mutation_p.P878S	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	878					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					TCGGATTCACCCCCTGAGCCA	0.587													T	18646626	C	T	18646626	3	4	27	1	0	0	0	0	1	0	0	0	3157	623	22	4	2698	4	CDKL5	23	18646626	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	24145	18646626	136623934	8441	32392											
PPEF1	5475	broad.mit.edu	37	chrX	18836180	18836180	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatactatggaaaacagcgCcatcaagatattaagagaga	10	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:18836180C>A	uc004cyq.2	+	16	1899	c.1418C>A	c.(1417-1419)GCC>GAC	p.A473D	PPEF1_uc004cyp.2_Missense_Mutation_p.A445D|PPEF1_uc004cyr.2_Missense_Mutation_p.A411D|PPEF1_uc004cys.2_Missense_Mutation_p.A473D|PPEF1_uc011mja.1_Missense_Mutation_p.A408D|PPEF1_uc011mjb.1_Missense_Mutation_p.A417D	NM_006240	NP_006231	O14829	PPE1_HUMAN	protein phosphatase with EF hand calcium-binding	473					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity				0	Hepatocellular(33;0.183)					GAAAACAGCGCCATCAAGATA	0.333													A	18836180	C	A	18836180	3	1	27	1	0	0	0	0	1	0	0	0	12307	739	26	5	1468	5	PPEF1	23	18836180	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	189554	18836180	136434380	8442	32393											
PHKA2	5256	broad.mit.edu	37	chrX	18912463	18912463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgccggtactcgggctgCggcacgcggttcagcaccga	15	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:18912463C>T	uc004cyv.3	-	32	3826	c.3396G>A	c.(3394-3396)CCG>CCA	p.P1132P	uc004cyt.2_RNA|PHKA2_uc004cyu.3_Silent_p.P438P|PHKA2_uc010nfe.1_Silent_p.P164P|PHKA2_uc010nff.1_RNA	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1132					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					ACTCGGGCTGCGGCACGCGGT	0.607													T	18912463	C	T	18912463	2	4	27	1	0	0	0	0	0	0	0	1	11844	755	27	1		1	PHKA2	23	18912463	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	76283	18912463	136358097	8443	32394											
PHKA2	5256	broad.mit.edu	37	chrX	18961916	18961916	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagttcatcaattgccTcaagagctgcctacaaacac	7	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:18961916T>C	uc004cyv.3	-	7	1059	c.629A>G	c.(628-630)GAG>GGG	p.E210G	PHKA2_uc010nfh.1_RNA|PHKA2_uc010nfi.1_Intron	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	210					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					ATCAATTGCCTCAAGAGCTGC	0.423													C	18961916	T	C	18961916	3	2	27	1	0	0	0	0	1	0	0	0	11844	1551	54	3	3186	3	PHKA2	23	18961916	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	49453	18961916	136308644	8444	32395											
MAP3K15	389840	broad.mit.edu	37	chrX	19413307	19413307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgtgcagggctatctcctCgtgcagaggctgagaatacc	12	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:19413307C>T	uc004czk.1	-	17	2148	c.511G>A	c.(511-513)GAG>AAG	p.E171K	MAP3K15_uc004czj.1_Missense_Mutation_p.E131K	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	696	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)					GCTATCTCCTCGTGCAGAGGC	0.358													T	19413307	C	T	19413307	3	4	27	1	0	0	0	0	1	0	0	0	9249	893	31	1	1911	1	MAP3K15	23	19413307	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	451391	19413307	135857253	8445	32396											
CXorf23	256643	broad.mit.edu	37	chrX	19983635	19983635	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgaactggtctctgggtgTtccctctcagcatgtcgata	11	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:19983635T>C	uc004czp.2	-	3	801	c.801A>G	c.(799-801)GAA>GAG	p.E267E	CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_5'UTR|CXorf23_uc004czo.2_Silent_p.E217E	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	hypothetical protein LOC256643	267						mitochondrion				lung(1)|skin(1)	2						TCTCTGGGTGTTCCCTCTCAG	0.517													C	19983635	T	C	19983635	2	2	27	1	0	0	0	0	0	0	0	1	4103	1722	60	3		3	CXorf23	23	19983635	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	570328	19983635	135286925	8446	32397											
KLHL34	257240	broad.mit.edu	37	chrX	21675116	21675116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccctgcatgagcggctggCgggagggcgtcgtgtggtag	20	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:21675116C>T	uc004czz.1	-	1	1333	c.791G>A	c.(790-792)CGC>CAC	p.R264H		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	264										ovary(1)	1						GAGCGGCTGGCGGGAGGGCGT	0.692													T	21675116	C	T	21675116	3	4	27	1	0	0	0	0	1	0	0	0	8387	768	27	1	1147	1	KLHL34	23	21675116	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1691481	21675116	133595444	8447	32398											
KLHL34	257240	broad.mit.edu	37	chrX	21675792	21675792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgacctgtgcgccgggaattCgctgccctcggtctccagtg	13	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:21675792C>T	uc004czz.1	-	1	657	c.115G>A	c.(115-117)GAA>AAA	p.E39K		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	39	BTB.									ovary(1)	1						GCCGGGAATTCGCTGCCCTCG	0.662													T	21675792	C	T	21675792	3	4	27	1	0	0	0	0	1	0	0	0	8387	893	31	1	1823	1	KLHL34	23	21675792	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	676	21675792	133594768	8448	32399											
YY2	404281	broad.mit.edu	37	chrX	21863457	21863457	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttcctcttcttcatcTtcttcctcttcctcgcttca	1	18	8	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:21863457T>A	uc010nfq.2	+	3	590	c.393T>A	c.(391-393)TCT>TCA	p.S131S	MBTPS2_uc004dae.2_Silent_p.S131S|MBTPS2_uc004dab.2_Silent_p.S131S	NM_206923	NP_996806	O15391	TYY2_HUMAN	YY2 transcription factor	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2						cttcttcatcttcttcctctt	0.229													A	21863457	T	A	21863457	2	1	27	1	0	0	0	0	0	0	0	1	17506	1596	56	5		5	YY2	23	21863457	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	187665	21863457	133407103	8449	32400											
SMS	6611	broad.mit.edu	37	chrX	21985316	21985316	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttccccttgttctccagctGatggtgagaccattctaaaa	7	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:21985316G>A	uc004dag.2	+	2	153	c.52G>A	c.(52-54)GAT>AAT	p.D18N	SMS_uc011mjq.1_5'UTR|SMS_uc004daf.1_Missense_Mutation_p.D18N	NM_004595	NP_004586	P52788	SPSY_HUMAN	spermine synthase	18					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			ovary(1)	1					Spermine(DB00127)	TTCTCCAGCTGATGGTGAGAC	0.488													A	21985316	G	A	21985316	3	1	27	1	0	0	0	0	1	0	0	0	14813	1290	45	4	58	4	SMS	23	21985316	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	121859	21985316	133285244	8450	32401											
SMS	6611	broad.mit.edu	37	chrX	22012435	22012435	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactccctgtccaggtgggTattttacactgtttggaaga	11	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:22012435T>C	uc004dag.2	+	11	1168	c.1067T>C	c.(1066-1068)GTA>GCA	p.V356A	SMS_uc010nfs.2_RNA|SMS_uc010nft.2_Missense_Mutation_p.Y68H	NM_004595	NP_004586	P52788	SPSY_HUMAN	spermine synthase	356					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			ovary(1)	1					Spermine(DB00127)	TCCAGGTGGGTATTTTACACT	0.423													C	22012435	T	C	22012435	3	2	27	1	0	0	0	0	1	0	0	0	14813	1638	57	3	1109	3	SMS	23	22012435	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	27119	22012435	133258125	8451	32402											
ZNF645	158506	broad.mit.edu	37	chrX	22291585	22291585	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcgtcctcatattgctccGccacaaactgaaatctctga	6	13	2	2	rs144357703		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:22291585G>A	uc004dai.1	+	1	526	c.477G>A	c.(475-477)CCG>CCA	p.P159P		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	159						intracellular	zinc ion binding			lung(1)|pancreas(1)	2						ATATTGCTCCGCCACAAACTG	0.468													A	22291585	G	A	22291585	2	1	27	1	0	0	0	0	0	0	0	1	18058	1074	38	1		1	ZNF645	23	22291585	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	279150	22291585	132978975	8452	32403											
DDX53	168400	broad.mit.edu	37	chrX	23018527	23018527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttattagaaaacaagaaaGctacaactcagaatccagtg	6	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:23018527G>A	uc004daj.2	+	1	441	c.353G>A	c.(352-354)AGC>AAC	p.S118N		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	118						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			large_intestine(1)|ovary(1)|kidney(1)	3						AAACAAGAAAGCTACAACTCA	0.403													A	23018527	G	A	23018527	3	1	27	1	0	0	0	0	1	0	0	0	4371	971	34	2	355	2	DDX53	23	23018527	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	726942	23018527	132252033	8453	32404											
APOO	79135	broad.mit.edu	37	chrX	23876803	23876803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggataatagagggaggcagCtaatcccatgaaaccaggcg	13	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:23876803C>T	uc004dax.2	-	6	667	c.436G>A	c.(436-438)GCT>ACT	p.A146T	APOO_uc004daw.2_RNA|APOO_uc004day.3_RNA	NM_024122	NP_077027	Q9BUR5	APOO_HUMAN	apolipoprotein O precursor	146					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle					0						AGGGAGGCAGCTAATCCCATG	0.413													T	23876803	C	T	23876803	3	4	27	1	0	0	0	0	1	0	0	0	813	797	28	2	172	2	APOO	23	23876803	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	858276	23876803	131393757	8454	32405											
CXorf58	254158	broad.mit.edu	37	chrX	23933870	23933870	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggcccccttagaggctaaGcttattaaggatcctactat	9	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:23933870G>T	uc004daz.1	+	4	614	c.270G>T	c.(268-270)AAG>AAT	p.K90N	CXorf58_uc011mju.1_Missense_Mutation_p.K90N	NM_152761	NP_689974	Q96LI9	CX058_HUMAN	hypothetical protein LOC254158	90											0						TAGAGGCTAAGCTTATTAAGG	0.358													T	23933870	G	T	23933870	3	4	27	1	0	0	0	0	1	0	0	0	4114	962	34	5	280	5	CXorf58	23	23933870	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	57067	23933870	131336690	8455	32406											
KLHL15	80311	broad.mit.edu	37	chrX	24006408	24006408	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccattgtaagaaatcatcTtgtgaaagcatctcgcgtaa	8	8	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:24006408T>G	uc004dba.3	-	4	1701	c.1445A>C	c.(1444-1446)AAG>ACG	p.K482T		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	kelch-like 15	482										ovary(1)|breast(1)	2						AGAAATCATCTTGTGAAAGCA	0.448													G	24006408	T	G	24006408	3	3	27	1	0	0	0	0	1	0	0	0	8371	1609	56	5	373	5	KLHL15	23	24006408	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	72538	24006408	131264152	8456	32407											
POLA1	5422	broad.mit.edu	37	chrX	24759545	24759545	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctggaaagatgccaagtTcattttgcagatcatgtgtg	10	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:24759545T>C	uc004dbl.2	+	21	2275	c.2252T>C	c.(2251-2253)TTC>TCC	p.F751S		NM_016937	NP_058633	P09884	DPOLA_HUMAN	DNA-directed DNA polymerase alpha 1	751					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)	GATGCCAAGTTCATTTTGCAG	0.358													C	24759545	T	C	24759545	3	2	27	1	0	0	0	0	1	0	0	0	12187	1783	62	3	2334	3	POLA1	23	24759545	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	753137	24759545	130511015	8457	32408											
MAGEB10	139422	broad.mit.edu	37	chrX	27840426	27840426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagtgccacagccggtgcaCgttccaaggttaagtccagc	11	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:27840426C>T	uc004dbw.2	+	3	1230	c.1003C>T	c.(1003-1005)CGT>TGT	p.R335C		NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	335										lung(1)|breast(1)|central_nervous_system(1)	3						AGCCGGTGCACGTTCCAAGGT	0.483													T	27840426	C	T	27840426	3	4	27	1	0	0	0	0	1	0	0	0	9173	536	19	1	1005	1	MAGEB10	23	27840426	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	3080881	27840426	127430134	8458	32409											
MAGEB3	4114	broad.mit.edu	37	chrX	30254423	30254423	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctgatggaaatgtacaagAtgaaaaagcccattatgaaa	8	6	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:30254423A>T	uc004dca.1	+	5	1119	c.382A>T	c.(382-384)ATG>TTG	p.M128L		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	128	MAGE.										0						AATGTACAAGATGAAAAAGCC	0.398													T	30254423	A	T	30254423	3	4	27	1	0	0	0	0	1	0	0	0	9177	333	12	5	384	5	MAGEB3	23	30254423	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2413997	30254423	125016137	8459	32410											
NR0B1	190	broad.mit.edu	37	chrX	30322917	30322917	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggagtccctgaatgtactTcacgcactgcaggcccggca	11	14	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:30322917T>C	uc004dcf.3	-	2	1207	c.1192A>G	c.(1192-1194)AAG>GAG	p.K398E		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	398	Ligand-binding (By similarity).				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)	TGAATGTACTTCACGCACTGC	0.468													C	30322917	T	C	30322917	3	2	27	1	0	0	0	0	1	0	0	0	10613	1792	62	3	224	3	NR0B1	23	30322917	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	68494	30322917	124947643	8460	32411											
NR0B1	190	broad.mit.edu	37	chrX	30327194	30327194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccagcgtcgcctcgggcGccttcggtgccgcgtacgtt	14	16	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:30327194G>A	uc004dcf.3	-	1	302	c.287C>T	c.(286-288)GCG>GTG	p.A96V		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	96	4 X 67 AA tandem repeats.|2.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)	CGCCTCGGGCGCCTTCGGTGC	0.682											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	30327194	G	A	30327194	3	1	27	1	0	0	0	0	1	0	0	0	10613	1087	38	1	1133	1	NR0B1	23	30327194	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4277	30327194	124943366	8461	32412											
GK	2710	broad.mit.edu	37	chrX	30686200	30686200	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagaaaacatgtgagaaacTtggacagctcaatattgata	9	5	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:30686200T>C	uc004dch.3	+	3	403	c.224T>C	c.(223-225)CTT>CCT	p.L75P	GK_uc010ngj.2_Missense_Mutation_p.L75P|GK_uc004dci.3_Missense_Mutation_p.L75P|GK_uc011mjz.1_5'UTR|GK_uc011mka.1_Intron|GK_uc010ngk.2_Intron	NM_203391	NP_976325	P32189	GLPK_HUMAN	glycerol kinase isoform a	75					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)	1						TGTGAGAAACTTGGACAGCTC	0.313													C	30686200	T	C	30686200	3	2	27	1	0	0	0	0	1	0	0	0	6420	1609	56	3	234	3	GK	23	30686200	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	359006	30686200	124584360	8462	32413											
TAB3	257397	broad.mit.edu	37	chrX	30849565	30849565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgtaccgtggcatctcGcactgctcacagcgatttag	11	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:30849565G>A	uc004dcj.2	-	11	2781	c.2118C>T	c.(2116-2118)TGC>TGT	p.C706C	TAB3_uc004dck.2_Silent_p.C706C|TAB3_uc010ngl.2_Silent_p.C678C	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	706	RanBP2-type.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			ovary(1)	1						GTGGCATCTCGCACTGCTCAC	0.488													A	30849565	G	A	30849565	2	1	27	1	0	0	0	0	0	0	0	1	15494	1079	38	1		1	TAB3	23	30849565	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	163365	30849565	124420995	8463	32414											
DMD	1756	broad.mit.edu	37	chrX	31165402	31165402	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctcacttgctccagcAgctgccttagcctgtgtaac	7	16	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:31165402A>G	uc004dda.1	-	75	11031	c.10787T>C	c.(10786-10788)CTG>CCG	p.L3596P	DMD_uc004dcq.1_Missense_Mutation_p.L867P|DMD_uc004dcr.1_Missense_Mutation_p.L1016P|DMD_uc004dcs.1_Missense_Mutation_p.L1026P|DMD_uc004dct.1_Missense_Mutation_p.L1136P|DMD_uc004dcu.1_Missense_Mutation_p.L1136P|DMD_uc004dcv.1_Missense_Mutation_p.L1123P|DMD_uc004dcw.2_Missense_Mutation_p.L2252P|DMD_uc004dcx.2_Missense_Mutation_p.L2255P|DMD_uc004dcz.2_Missense_Mutation_p.L3473P|DMD_uc004dcy.1_Missense_Mutation_p.L3592P|DMD_uc004ddb.1_Missense_Mutation_p.L3588P|DMD_uc004dcm.1_Missense_Mutation_p.L528P|DMD_uc004dcn.1_Missense_Mutation_p.L515P|DMD_uc004dco.1_Missense_Mutation_p.L528P|DMD_uc004dcp.1_Missense_Mutation_p.L515P|DMD_uc011mkb.1_Missense_Mutation_p.L418P	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3596					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGCTCCAGCAGCTGCCTTAG	0.448													G	31165402	A	G	31165402	3	3	27	1	0	0	0	0	1	0	0	0	4580	188	7	3	376	3	DMD	23	31165402	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	315837	31165402	124105158	8464	32415											
DMD	1756	broad.mit.edu	37	chrX	31196845	31196845	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtagcccattcggggatgCttcgcaaaataccttttggt	11	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:31196845C>T	uc004dda.1	-	70	10408	c.10164G>A	c.(10162-10164)AAG>AAA	p.K3388K	DMD_uc004dcq.1_Silent_p.K659K|DMD_uc004dcr.1_Silent_p.K928K|DMD_uc004dcs.1_Silent_p.K928K|DMD_uc004dct.1_Silent_p.K928K|DMD_uc004dcu.1_Silent_p.K928K|DMD_uc004dcv.1_Silent_p.K928K|DMD_uc004dcw.2_Silent_p.K2044K|DMD_uc004dcx.2_Silent_p.K2047K|DMD_uc004dcz.2_Silent_p.K3265K|DMD_uc004dcy.1_Silent_p.K3384K|DMD_uc004ddb.1_Silent_p.K3380K|DMD_uc004dcm.1_Silent_p.K320K|DMD_uc004dcn.1_Silent_p.K320K|DMD_uc004dco.1_Silent_p.K320K|DMD_uc004dcp.1_Silent_p.K320K|DMD_uc011mkb.1_Silent_p.K320K|DMD_uc010ngm.2_Silent_p.K320K	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3388	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCGGGGATGCTTCGCAAAAT	0.438													T	31196845	C	T	31196845	2	4	27	1	0	0	0	0	0	0	0	1	4580	796	28	2		2	DMD	23	31196845	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	31443	31196845	124073715	8465	32416											
DMD	1756	broad.mit.edu	37	chrX	32398784	32398784	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcatttctccaactgttgcTttctttctgttacctgaaaa	5	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:32398784T>A	uc004dda.1	-	34	4932	c.4688A>T	c.(4687-4689)AAG>ATG	p.K1563M	DMD_uc004dcw.2_Missense_Mutation_p.K219M|DMD_uc004dcx.2_Missense_Mutation_p.K222M|DMD_uc004dcz.2_Missense_Mutation_p.K1440M|DMD_uc004dcy.1_Missense_Mutation_p.K1559M|DMD_uc004ddb.1_Missense_Mutation_p.K1555M|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1563	Spectrin 10.|Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAACTGTTGCTTTCTTTCTGT	0.318													A	32398784	T	A	32398784	3	1	27	1	0	0	0	0	1	0	0	0	4580	1609	56	5	6701	5	DMD	23	32398784	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1201939	32398784	122871776	8466	32417											
DMD	1756	broad.mit.edu	37	chrX	32408234	32408235	+	Missense_Mutation	DNP	CC	CC	AA													ctctttgggcagcctccttcCcctgattatgtttcttcatt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:32408234_32408235CC>AA	uc004dda.1	-	31	4541_4542	c.4297_4298GG>TT	c.(4297-4299)GGG>TTG	p.G1433L	DMD_uc004dcw.2_Missense_Mutation_p.G89L|DMD_uc004dcx.2_Missense_Mutation_p.G92L|DMD_uc004dcz.2_Missense_Mutation_p.G1310L|DMD_uc004dcy.1_Missense_Mutation_p.G1429L|DMD_uc004ddb.1_Missense_Mutation_p.G1425L|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1433	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGCCTCCTTCCCCTGATTATGT	0.396													AA	32408235	CC	AA	32408234	3	1	27	1	0	0	0	0	1	0	0	0	4580	623	22	5	7103	5	DMD	23	32408234	Missense_Mutation	DNP	CC	TCGA-BR-6452-01A-12D-1800-08	9450	32408234	122862326	8467	32418											
DMD	1756	broad.mit.edu	37	chrX	32536157	32536157	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttaagtctgagaagttgcCttccttccgaaagattgcaa	8	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:32536157C>A	uc004dda.1	-	18	2504	c.2260G>T	c.(2260-2262)GGC>TGC	p.G754C	DMD_uc004dcz.2_Missense_Mutation_p.G631C|DMD_uc004dcy.1_Missense_Mutation_p.G750C|DMD_uc004ddb.1_Missense_Mutation_p.G746C|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.G746C	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	754	Spectrin 4.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GAGAAGTTGCCTTCCTTCCGA	0.378													A	32536157	C	A	32536157	3	1	27	1	0	0	0	0	1	0	0	0	4580	681	24	5	9288	5	DMD	23	32536157	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	127923	32536157	122734403	8468	32419											
DMD	1756	broad.mit.edu	37	chrX	32583888	32583888	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagttatccagccatgcTtccgtcttctgggtcactga	9	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:32583888T>G	uc004dda.1	-	16	2167	c.1923A>C	c.(1921-1923)GAA>GAC	p.E641D	DMD_uc004dcz.2_Missense_Mutation_p.E518D|DMD_uc004dcy.1_Missense_Mutation_p.E637D|DMD_uc004ddb.1_Missense_Mutation_p.E633D|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.E633D	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	641	Spectrin 3.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCAGCCATGCTTCCGTCTTCT	0.403													G	32583888	T	G	32583888	3	3	27	1	0	0	0	0	1	0	0	0	4580	1606	56	5	9633	5	DMD	23	32583888	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	47731	32583888	122686672	8469	32420											
FAM47A	158724	broad.mit.edu	37	chrX	34148408	34148408	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagaatttgtcctcatccTtttcatctagctccatgctg	6	11	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:34148408T>G	uc004ddg.2	-	1	2021	c.1988A>C	c.(1987-1989)AAG>ACG	p.K663T		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	663										ovary(4)|central_nervous_system(1)	5						GTCCTCATCCTTTTCATCTAG	0.443													G	34148408	T	G	34148408	3	3	27	1	0	0	0	0	1	0	0	0	5569	1609	56	5	391	5	FAM47A	23	34148408	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1564520	34148408	121122152	8470	32421											
FAM47A	158724	broad.mit.edu	37	chrX	34148797	34148797	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcgacgagtcttgggaggCtccggaccgagactggacgt	15	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:34148797C>A	uc004ddg.2	-	1	1632	c.1599G>T	c.(1597-1599)GAG>GAT	p.E533D		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	533										ovary(4)|central_nervous_system(1)	5						TCTTGGGAGGCTCCGGACCGA	0.662													A	34148797	C	A	34148797	3	1	27	1	0	0	0	0	1	0	0	0	5569	796	28	5	780	5	FAM47A	23	34148797	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	389	34148797	121121763	8471	32422											
FAM47B	170062	broad.mit.edu	37	chrX	34962797	34962797	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgccaagaagggatggActtacgactctgttaagact	11	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:34962797A>G	uc004ddi.1	+	1	1867	c.1849A>G	c.(1849-1851)ACT>GCT	p.T617A		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	617										ovary(3)|breast(1)	4						GAAGGGATGGACTTACGACTC	0.413													G	34962797	A	G	34962797	3	3	27	1	0	0	0	0	1	0	0	0	5570	275	10	3	1851	3	FAM47B	23	34962797	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	814000	34962797	120307763	8472	32423											
CXorf22	170063	broad.mit.edu	37	chrX	35944204	35944204	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatgacagctatggtggaatAtcatcctgataaagacgaag	11	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:35944204A>T	uc004ddj.2	+	2	379	c.320A>T	c.(319-321)TAT>TTT	p.Y107F	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	107										large_intestine(1)|lung(1)|ovary(1)	3						ATGGTGGAATATCATCCTGAT	0.363													T	35944204	A	T	35944204	3	4	27	1	0	0	0	0	1	0	0	0	4102	449	16	5	326	5	CXorf22	23	35944204	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	981407	35944204	119326356	8473	32424											
CXorf22	170063	broad.mit.edu	37	chrX	35959399	35959399	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccttcttttctcctccctaGgttgattccatcctgtcaat	5	14	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:35959399G>T	uc004ddj.2	+	3	461	c.402_splice	c.e3-1	p.G134_splice	CXorf22_uc010ngv.2_Splice_Site	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063											large_intestine(1)|lung(1)|ovary(1)	3						CTCCTCCCTAGGTTGATTCCA	0.343													T	35959399	G	T	35959399	5	4	27	1	0	0	0	0	0	0	1	0	4102	1014	35	5	411	5	CXorf22	23	35959399	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	15195	35959399	119311161	8474	32425											
CXorf22	170063	broad.mit.edu	37	chrX	35966531	35966531	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atggttattaaagtagatttCtgtgcagaccagccaagaat	9	6	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:35966531C>A	uc004ddj.2	+	4	677	c.618C>A	c.(616-618)TTC>TTA	p.F206L	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	206										large_intestine(1)|lung(1)|ovary(1)	3						AAGTAGATTTCTGTGCAGACC	0.383													A	35966531	C	A	35966531	3	1	27	1	0	0	0	0	1	0	0	0	4102	912	32	5	632	5	CXorf22	23	35966531	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	7132	35966531	119304029	8475	32426											
CXorf22	170063	broad.mit.edu	37	chrX	35969365	35969365	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggaatgcatacactttggTcctgttttcttcggatcatc	8	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:35969365T>C	uc004ddj.2	+	5	833	c.774T>C	c.(772-774)GGT>GGC	p.G258G	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	258										large_intestine(1)|lung(1)|ovary(1)	3						TACACTTTGGTCCTGTTTTCT	0.408													C	35969365	T	C	35969365	2	2	27	1	0	0	0	0	0	0	0	1	4102	1654	58	3		3	CXorf22	23	35969365	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2834	35969365	119301195	8476	32427											
PRRG1	5638	broad.mit.edu	37	chrX	37312611	37312612	+	Frame_Shift_Ins	INS	-	-	C													ccttaatattatcaccccacINScccccccaccagatgaagtg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:37312610_37312611A>AC	uc004ddn.3	+	4	646_647	c.393_394A>AC	c.(391-396)ccacccfs	p.P131fs	PRRG1_uc004ddo.3_Frame_Shift_Ins_p.P131fs|PRRG1_uc022buu.1_Frame_Shift_Ins_p.P131fs|PRRG1_uc022buv.1_Frame_Shift_Ins_p.P131fs	NM_000950	NP_001166961	O14668	TMG1_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 1 (PRRG1), transcript variant 1, mRNA.	131	Poly-Pro.					extracellular region|integral to plasma membrane	calcium ion binding	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TTATCACCCCACCCCCCCCACC	0.485													C	37312612	-	C	37312611	7	5	27	1	0	1	1	0	0	0	0	0	12605	507	18	0	486	0	PRRG1	23	37312611	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	1343246	37312611	117957949	8477	32428											
CYBB	1536	broad.mit.edu	37	chrX	37658288	37658288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaaaaatctcagaatgggGaaaaataaaggaatgcccaa	8	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:37658288G>A	uc004ddr.2	+	7	816	c.755G>A	c.(754-756)GGA>GAA	p.G252E	CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.G220E|CYBB_uc011mkg.1_5'UTR	NM_000397	NP_000388	P04839	CY24B_HUMAN	cytochrome b-245 beta polypeptide	252	Extracellular (Potential).|Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						TCAGAATGGGGAAAAATAAAG	0.383													A	37658288	G	A	37658288	3	1	27	1	0	0	0	0	1	0	0	0	4133	1174	41	4	781	4	CYBB	23	37658288	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	345677	37658288	117612272	8478	32429											
CXorf27	25763	broad.mit.edu	37	chrX	37850184	37850184	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctacaggtccctaggagctTcgtggaccgcgttgtgcaag	14	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:37850184T>C	uc004ddt.3	+	1	115	c.92T>C	c.(91-93)TTC>TCC	p.F31S		NM_012274	NP_036406	O75409	HYPM_HUMAN	Huntingtin interacting protein M	31							DNA binding			central_nervous_system(1)	1						CCTAGGAGCTTCGTGGACCGC	0.463													C	37850184	T	C	37850184	3	2	27	1	0	0	0	0	1	0	0	0	4105	1783	62	3	94	3	CXorf27	23	37850184	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	191896	37850184	117420376	8479	32430											
OTC	5009	broad.mit.edu	37	chrX	38240679	38240679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaagtctcacggacacggCccggtttgtaaatattttct	9	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:38240679C>T	uc004def.3	+	4	597	c.383C>T	c.(382-384)GCC>GTC	p.A128V		NM_000531	NP_000522	P00480	OTC_HUMAN	ornithine carbamoyltransferase precursor	128					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			ovary(1)|breast(1)	2					L-Citrulline(DB00155)|L-Ornithine(DB00129)	ACGGACACGGCCCGGTTTGTA	0.343													T	38240679	C	T	38240679	3	4	27	1	0	0	0	0	1	0	0	0	11301	739	26	2	397	2	OTC	23	38240679	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	390495	38240679	117029881	8480	32431											
BCOR	54880	broad.mit.edu	37	chrX	39931992	39931992	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagactggctgtttgaaagtAtaagtttcgtggaagtcact	11	5	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:39931992A>G	uc004den.3	-	4	2899	c.2607T>C	c.(2605-2607)TAT>TAC	p.Y869Y	BCOR_uc004dep.3_Silent_p.Y869Y|BCOR_uc004deo.3_Silent_p.Y869Y|BCOR_uc004dem.3_Silent_p.Y869Y|BCOR_uc004deq.3_Silent_p.Y869Y	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	869					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						GTTTGAAAGTATAAGTTTCGT	0.552													G	39931992	A	G	39931992	2	3	27	1	0	0	0	0	0	0	0	1	1386	456	16	3		3	BCOR	23	39931992	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1691313	39931992	115338568	8481	32432											
ATP6AP2	10159	broad.mit.edu	37	chrX	40456806	40456806	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatggtagggaaggcaaacTcagtgtttgaagacctttca	11	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:40456806T>C	uc004det.2	+	5	526	c.424T>C	c.(424-426)TCA>CCA	p.S142P	ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Missense_Mutation_p.S66P|ATP6AP2_uc011mkm.1_Missense_Mutation_p.S110P|ATP6AP2_uc011mkn.1_Intron|ATP6AP2_uc004deu.1_Missense_Mutation_p.S7P	NM_005765	NP_005756	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory	142	Extracellular (Potential).				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity				0						GAAGGCAAACTCAGTGTTTGA	0.418													C	40456806	T	C	40456806	3	2	27	1	0	0	0	0	1	0	0	0	1167	1551	54	3	442	3	ATP6AP2	23	40456806	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	524814	40456806	114813754	8482	32433											
CXorf38	159013	broad.mit.edu	37	chrX	40496409	40496409	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcattacgacatttaattacCtgcagaaagacaaaaagata	5	7	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:40496409C>A	uc004dew.2	-	4	477	c.472_splice	c.e4-1	p.V158_splice	CXorf38_uc011mko.1_Splice_Site_p.V73_splice|CXorf38_uc004dev.1_Splice_Site_p.V39_splice|CXorf38_uc010nhd.2_Splice_Site	NM_144970	NP_659407	Q8TB03	CX038_HUMAN	hypothetical protein LOC159013											ovary(1)	1						ATTTAATTACCTGCAGAAAGA	0.338													A	40496409	C	A	40496409	5	1	27	1	0	0	0	0	0	0	1	0	4107	695	24	5	500	5	CXorf38	23	40496409	Splice_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	39603	40496409	114774151	8483	32434											
MED14	9282	broad.mit.edu	37	chrX	40571544	40571544	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgaaccaaagctcgcccAtcttccgttggcagaagaaa	8	12	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:40571544A>G	uc004dex.3	-	7	923	c.783T>C	c.(781-783)GAT>GAC	p.D261D	MED14_uc010nhe.1_Silent_p.D145D	NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	261	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4						AAGCTCGCCCATCTTCCGTTG	0.388													G	40571544	A	G	40571544	2	3	27	1	0	0	0	0	0	0	0	1	9432	231	8	3		3	MED14	23	40571544	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	75135	40571544	114699016	8484	32435											
DDX3X	1654	broad.mit.edu	37	chrX	41203533	41203533	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtccttgcgtggtttatggTggtgccgatattggtcagca	14	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:41203533T>C	uc004dfe.2	+	10	1761	c.906T>C	c.(904-906)GGT>GGC	p.G302G	DDX3X_uc010nhf.1_Silent_p.G286G|DDX3X_uc004dff.2_Silent_p.G302G|DDX3X_uc011mkq.1_Silent_p.G286G|DDX3X_uc011mkr.1_Silent_p.G302G|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	302	Necessary for interaction with XPO1.|Helicase ATP-binding.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						TGGTTTATGGTGGTGCCGATA	0.398										HNSCC(61;0.18)			C	41203533	T	C	41203533	2	2	27	1	0	0	0	0	0	0	0	1	4358	1683	59	3		3	DDX3X	23	41203533	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	631989	41203533	114067027	8485	32436											
DDX3X	1654	broad.mit.edu	37	chrX	41205775	41205775	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtagcagcaagaggactGgacatttcaaatgtgaaaca	11	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:41205775G>A	uc004dfe.2	+	14	2370	c.1515G>A	c.(1513-1515)CTG>CTA	p.L505L	DDX3X_uc004dff.2_Silent_p.L505L|DDX3X_uc011mkq.1_Silent_p.L489L|DDX3X_uc011mkr.1_Intron|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	505	Helicase C-terminal.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						CAAGAGGACTGGACATTTCAA	0.353										HNSCC(61;0.18)			A	41205775	G	A	41205775	2	1	27	1	0	0	0	0	0	0	0	1	4358	1335	47	4		4	DDX3X	23	41205775	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2242	41205775	114064785	8486	32437											
GPR82	27197	broad.mit.edu	37	chrX	41586602	41586602	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtatgtttgtcagtctctTaattttaagttggattgcca	8	5	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:41586602T>C	uc004dfs.1	+	3	563	c.323T>C	c.(322-324)TTA>TCA	p.L108S	CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR82_uc004dft.2_Missense_Mutation_p.L108S|GPR82_uc004dfu.1_RNA	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	108	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						GTCAGTCTCTTAATTTTAAGT	0.388													C	41586602	T	C	41586602	3	2	27	1	0	0	0	0	1	0	0	0	6712	1764	61	3	325	3	GPR82	23	41586602	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	380827	41586602	113683958	8487	32438											
MAOB	4129	broad.mit.edu	37	chrX	43662605	43662605	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatgatctaagtaggtaattGgattccatacaggtgggaat	11	4	1	1	rs149395667	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:43662605G>T	uc004dfz.3	-	4	502	c.326C>A	c.(325-327)CCA>CAA	p.P109Q	MAOB_uc011mkx.1_Missense_Mutation_p.P93Q|MAOB_uc011mky.1_Missense_Mutation_p.P93Q	NM_000898	NP_000889	P27338	AOFB_HUMAN	monoamine oxidase B	109	Cytoplasmic.				xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			ovary(1)|central_nervous_system(1)	2					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	GTAGGTAATTGGATTCCATAC	0.358													T	43662605	G	T	43662605	3	4	27	1	0	0	0	0	1	0	0	0	9226	1348	47	5	1284	5	MAOB	23	43662605	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2076003	43662605	111607955	8488	32439											
KDM6A	7403	broad.mit.edu	37	chrX	44928862	44928862	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttcacattcggcaggtccTaatggtgaacgacctctctc	9	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:44928862T>C	uc004dge.3	+	17	2337	c.1962T>C	c.(1960-1962)CCT>CCC	p.P654P	KDM6A_uc010nhk.2_Silent_p.P620P|KDM6A_uc011mkz.1_Silent_p.P706P|KDM6A_uc011mla.1_Silent_p.P609P|KDM6A_uc011mlb.1_Silent_p.P661P|KDM6A_uc011mlc.1_Silent_p.P358P|KDM6A_uc011mld.1_Silent_p.P293P	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	654					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						CGGCAGGTCCTAATGGTGAAC	0.443			D|N|F|S		renal|oesophageal SCC|MM								C	44928862	T	C	44928862	2	2	27	1	0	0	0	0	0	0	0	1	8137	1509	53	3		3	KDM6A	23	44928862	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1266257	44928862	110341698	8489	32440											
ZNF673	55634	broad.mit.edu	37	chrX	46322301	46322301	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagaactacagccacctggTgtccgtgggtgagggaccgt	15	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:46322301T>C	uc004dgn.3	+	4	433	c.134T>C	c.(133-135)GTG>GCG	p.V45A	ZNF673_uc004dgp.3_Missense_Mutation_p.V45A|ZNF673_uc010nhl.2_Missense_Mutation_p.V45A|ZNF673_uc004dgm.3_Missense_Mutation_p.V45A	NM_001129898	NP_001123370	Q5JUW0	ZN673_HUMAN	zinc finger family member 673 isoform 1	45	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding				0						AGCCACCTGGTGTCCGTGGGT	0.557													C	46322301	T	C	46322301	3	2	27	1	0	0	0	0	1	0	0	0	18077	1696	59	3	140	3	ZNF673	23	46322301	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1393439	46322301	108948259	8490	32441											
RBM10	8241	broad.mit.edu	37	chrX	47045526	47045526	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatggcatccccgagccgccAgagcccaagaggaggaagta	13	12	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:47045526A>G	uc004dhf.2	+	22	2872	c.2493A>G	c.(2491-2493)CCA>CCG	p.P831P	RBM10_uc004dhg.2_Silent_p.P753P|RBM10_uc004dhh.2_Silent_p.P830P|RBM10_uc010nhq.2_Silent_p.P754P|RBM10_uc004dhi.2_Silent_p.P896P	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	831					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						CCGAGCCGCCAGAGCCCAAGA	0.612													G	47045526	A	G	47045526	2	3	27	1	0	0	0	0	0	0	0	1	13111	175	7	3		3	RBM10	23	47045526	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	723225	47045526	108225034	8491	32442											
ZNF157	7712	broad.mit.edu	37	chrX	47269706	47269706	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attcgaggatgtggctgtggAtttcacccgacaggagtggc	15	8	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:47269706A>T	uc004dhr.1	+	2	173	c.104A>T	c.(103-105)GAT>GTT	p.D35V		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	35	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GTGGCTGTGGATTTCACCCGA	0.502													T	47269706	A	T	47269706	3	4	27	1	0	0	0	0	1	0	0	0	17734	333	12	5	110	5	ZNF157	23	47269706	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	224180	47269706	108000854	8492	32443											
ZNF157	7712	broad.mit.edu	37	chrX	47271938	47271938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttagacgtaaaagaacaCccagaggagataaaaacttt	8	6	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:47271938C>T	uc004dhr.1	+	4	535	c.466C>T	c.(466-468)CCC>TCC	p.P156S		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	156					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TAAAAGAACACCCAGAGGAGA	0.388													T	47271938	C	T	47271938	3	4	27	1	0	0	0	0	1	0	0	0	17734	507	18	4	480	4	ZNF157	23	47271938	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2232	47271938	107998622	8493	32444											
ZNF157	7712	broad.mit.edu	37	chrX	47272743	47272743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgtgggaaaatcttcaGtatgaagaaatccctttgtc	9	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:47272743G>A	uc004dhr.1	+	4	1340	c.1271G>A	c.(1270-1272)AGT>AAT	p.S424N		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	424	C2H2-type 10.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AAAATCTTCAGTATGAAGAAA	0.418													A	47272743	G	A	47272743	3	1	27	1	0	0	0	0	1	0	0	0	17734	1029	36	4	1285	4	ZNF157	23	47272743	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	805	47272743	107997817	8494	32445											
ZNF41	7592	broad.mit.edu	37	chrX	47307610	47307610	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcacacatatagggttttTccccagtatgagttttctga	8	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:47307610T>C	uc004dhs.3	-	4	1752	c.1685A>G	c.(1684-1686)GAA>GGA	p.E562G	ZNF41_uc004dhu.3_Missense_Mutation_p.E554G|ZNF41_uc004dht.3_Missense_Mutation_p.E434G|ZNF41_uc004dhv.3_Missense_Mutation_p.E530G|ZNF41_uc004dhw.3_Missense_Mutation_p.E522G|ZNF41_uc004dhy.3_Missense_Mutation_p.E520G|ZNF41_uc004dhx.3_Missense_Mutation_p.E520G|ZNF41_uc011mlm.1_Missense_Mutation_p.E434G	NM_153380	NP_700359	P51814	ZNF41_HUMAN	zinc finger protein 41	562						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3		all_lung(315;0.000129)				ATAGGGTTTTTCCCCAGTATG	0.418													C	47307610	T	C	47307610	3	2	27	1	0	0	0	0	1	0	0	0	17886	1783	62	3	784	3	ZNF41	23	47307610	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	34867	47307610	107962950	8495	32446											
ARAF	369	broad.mit.edu	37	chrX	47426532	47426532	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatgacaagaagaaagtggTatgctcgagggggatccttt	14	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:47426532T>C	uc011mlq.1	+	9	1006	c.873_splice	c.e9+2	p.V291_splice	ARAF_uc011mln.1_Splice_Site|ARAF_uc011mlo.1_Splice_Site_p.V157_splice|ARAF_uc011mlp.1_Splice_Site_p.V291_splice|ARAF_uc004dic.1_Splice_Site_p.V72_splice	NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene						intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	AAGAAAGTGGTATGCTCGAGG	0.602													C	47426532	T	C	47426532	5	2	27	1	0	0	0	0	0	0	1	0	837	1652	57	3	905	3	ARAF	23	47426532	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	118922	47426532	107844028	8496	32447											
SYN1	6853	broad.mit.edu	37	chrX	47478771	47478771	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtcggtgtgcggctcgtcGatgaccagcagcaccctgga	14	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:47478771G>A	uc004die.2	-	1	486	c.357C>T	c.(355-357)ATC>ATT	p.I119I	SYN1_uc004did.2_Silent_p.I119I	NM_006950	NP_008881	P17600	SYN1_HUMAN	synapsin I isoform Ia	119	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			ovary(1)	1						GCGGCTCGTCGATGACCAGCA	0.701													A	47478771	G	A	47478771	2	1	27	1	0	0	0	0	0	0	0	1	15437	1048	37	1		1	SYN1	23	47478771	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	52239	47478771	107791789	8497	32448											
FTSJ1	24140	broad.mit.edu	37	chrX	48339902	48339902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaagcccaggagcagccGgaactctagcatcggtcagt	12	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:48339902G>A	uc004djo.1	+	8	880	c.557G>A	c.(556-558)CGG>CAG	p.R186Q	FTSJ1_uc004djl.2_Missense_Mutation_p.R186Q|FTSJ1_uc004djm.2_Missense_Mutation_p.R186Q|FTSJ1_uc004djn.1_Missense_Mutation_p.R186Q|FTSJ1_uc004djp.1_Missense_Mutation_p.R186Q|FTSJ1_uc011mlw.1_Missense_Mutation_p.R49Q	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	FtsJ homolog 1 isoform a	186					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding				0						AGGAGCAGCCGGAACTCTAGC	0.637													A	48339902	G	A	48339902	3	1	27	1	0	0	0	0	1	0	0	0	6087	1116	39	1	583	1	FTSJ1	23	48339902	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	861131	48339902	106930658	8498	32449											
FTSJ1	24140	broad.mit.edu	37	chrX	48340054	48340054	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagggctatgaccctccCgagggcttcatcccggacct	11	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:48340054C>T	uc004djo.1	+	9	929	c.606C>T	c.(604-606)CCC>CCT	p.P202P	FTSJ1_uc004djl.2_Silent_p.P202P|FTSJ1_uc004djm.2_Silent_p.P202P|FTSJ1_uc004djn.1_Silent_p.P202P|FTSJ1_uc004djp.1_Silent_p.P202P|FTSJ1_uc011mlw.1_Silent_p.P65P	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	FtsJ homolog 1 isoform a	202					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding				0						ATGACCCTCCCGAGGGCTTCA	0.627													T	48340054	C	T	48340054	2	4	27	1	0	0	0	0	0	0	0	1	6087	639	23	1		1	FTSJ1	23	48340054	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	152	48340054	106930506	8499	32450											
PORCN	64840	broad.mit.edu	37	chrX	48371053	48371053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctgtccacttgcgtggGcccctacctcttcccgtact	9	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:48371053G>A	uc010nie.1	+	6	790	c.632G>A	c.(631-633)GGC>GAC	p.G211D	PORCN_uc004djr.1_Missense_Mutation_p.G211D|PORCN_uc004djs.1_Missense_Mutation_p.G211D|PORCN_uc004djt.1_Missense_Mutation_p.G140D|PORCN_uc011mlx.1_Missense_Mutation_p.G140D|PORCN_uc004dju.1_Missense_Mutation_p.G80D|PORCN_uc004djv.1_Missense_Mutation_p.G211D|PORCN_uc004djw.1_Missense_Mutation_p.G211D	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	porcupine isoform D	211	Helical; (Potential).				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(2)|central_nervous_system(1)	3						ACTTGCGTGGGCCCCTACCTC	0.642													A	48371053	G	A	48371053	3	1	27	1	0	0	0	0	1	0	0	0	12258	1203	42	2	650	2	PORCN	23	48371053	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	30999	48371053	106899507	8500	32451											
EBP	10682	broad.mit.edu	37	chrX	48386694	48386694	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacggagagctgggccAccctctctacttctggtttt	10	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:48386694A>G	uc004djx.3	+	5	747	c.542A>G	c.(541-543)CAC>CGC	p.H181R	EBP_uc004djy.3_Missense_Mutation_p.H181R|EBP_uc004djz.2_Missense_Mutation_p.H181R	NM_006579	NP_006570	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)	181					cholesterol biosynthetic process|skeletal system development	endoplasmic reticulum membrane|integral to plasma membrane	cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity			ovary(1)	1						GAGCTGGGCCACCCTCTCTAC	0.567													G	48386694	A	G	48386694	3	3	27	1	0	0	0	0	1	0	0	0	4886	159	6	3	556	3	EBP	23	48386694	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	15641	48386694	106883866	8501	32452											
TBC1D25	4943	broad.mit.edu	37	chrX	48418075	48418075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggatggactacatgaaacGcaagagccgcgagtatgagc	14	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:48418075G>A	uc004dka.1	+	6	890	c.779G>A	c.(778-780)CGC>CAC	p.R260H	TBC1D25_uc011mly.1_Missense_Mutation_p.R202H|TBC1D25_uc004dkb.1_Missense_Mutation_p.R6H|TBC1D25_uc011mlz.1_Missense_Mutation_p.R6H|TBC1D25_uc011mma.1_Missense_Mutation_p.R6H|TBC1D25_uc004dkc.1_Missense_Mutation_p.R6H|TBC1D25_uc011mmb.1_Missense_Mutation_p.R264H|TBC1D25_uc011mmc.1_Missense_Mutation_p.R6H|TBC1D25_uc011mmd.1_Missense_Mutation_p.R6H	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	260	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			ovary(1)	1						TACATGAAACGCAAGAGCCGC	0.592													A	48418075	G	A	48418075	3	1	27	1	0	0	0	0	1	0	0	0	15612	1087	38	1	801	1	TBC1D25	23	48418075	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	31381	48418075	106852485	8502	32453											
WDR13	64743	broad.mit.edu	37	chrX	48457143	48457143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaacgtttccacagtttcGgacgcagtatatccgccggc	9	14	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:48457143G>A	uc004dkh.1	+	3	227	c.80G>A	c.(79-81)CGG>CAG	p.R27Q	WDR13_uc010nif.1_Intron|WDR13_uc004dki.1_5'UTR|WDR13_uc004dkj.1_Missense_Mutation_p.R27Q|WDR13_uc004dkk.1_5'UTR|WDR13_uc004dkl.3_5'UTR|WDR13_uc011mme.1_5'Flank	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	27						cytoplasm|nucleus				ovary(2)	2						CCACAGTTTCGGACGCAGTAT	0.647													A	48457143	G	A	48457143	3	1	27	1	0	0	0	0	1	0	0	0	17272	1116	39	1	86	1	WDR13	23	48457143	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	39068	48457143	106813417	8503	32454											
WDR13	64743	broad.mit.edu	37	chrX	48458825	48458825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtgcttcgcgtgctacgGggccacacccgtggtgtctc	13	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:48458825G>A	uc004dkh.1	+	6	789	c.642G>A	c.(640-642)CGG>CGA	p.R214R	WDR13_uc010nif.1_Silent_p.R92R|WDR13_uc004dki.1_Silent_p.R122R|WDR13_uc004dkj.1_Silent_p.R214R|WDR13_uc004dkk.1_Silent_p.R122R|WDR13_uc004dkl.3_Silent_p.R122R|WDR13_uc011mme.1_Silent_p.R92R	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	214						cytoplasm|nucleus				ovary(2)	2						GCGTGCTACGGGGCCACACCC	0.647													A	48458825	G	A	48458825	2	1	27	1	0	0	0	0	0	0	0	1	17272	1219	43	4		4	WDR13	23	48458825	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1682	48458825	106811735	8504	32455											
SUV39H1	6839	broad.mit.edu	37	chrX	48559089	48559089	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgatgggcgtggctggggcgTccgcaccctggagaagattc	17	10	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:48559089T>A	uc004dkn.2	+	3	818	c.773T>A	c.(772-774)GTC>GAC	p.V258D	SUV39H1_uc011mmf.1_Missense_Mutation_p.V269D|SUV39H1_uc011mmg.1_RNA	NM_003173	NP_003164	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1	258	Mediates interaction with MECOM (By similarity).|SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding				0						GGCTGGGGCGTCCGCACCCTG	0.597													A	48559089	T	A	48559089	3	1	27	1	0	0	0	0	1	0	0	0	15409	1667	58	5	783	5	SUV39H1	23	48559089	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	100264	48559089	106711471	8505	32456											
KCND1	3750	broad.mit.edu	37	chrX	48826003	48826003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaaggcctgtgggaagcGttcgccacagggctgctccc	14	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:48826003G>A	uc004dlx.1	-	1	2249	c.676C>T	c.(676-678)CGC>TGC	p.R226C	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	226						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3						TGTGGGAAGCGTTCGCCACAG	0.607													A	48826003	G	A	48826003	3	1	27	1	0	0	0	0	1	0	0	0	8018	1145	40	1	1291	1	KCND1	23	48826003	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	266914	48826003	106444557	8506	32457											
GRIPAP1	56850	broad.mit.edu	37	chrX	48837853	48837853	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgcccttcttctccaggAtcctctgcccatccactgtg	6	18	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:48837853A>G	uc004dly.1	-	20	1840	c.1805T>C	c.(1804-1806)ATC>ACC	p.I602T	GRIPAP1_uc004dlz.2_Missense_Mutation_p.I492T|GRIPAP1_uc004dma.2_Missense_Mutation_p.I523T	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	602	Potential.					early endosome				breast(2)|kidney(1)	3						CTTCTCCAGGATCCTCTGCCC	0.627													G	48837853	A	G	48837853	3	3	27	1	0	0	0	0	1	0	0	0	6789	333	12	3	802	3	GRIPAP1	23	48837853	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	11850	48837853	106432707	8507	32458											
GRIPAP1	56850	broad.mit.edu	37	chrX	48839424	48839424	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcgccgttcaaaccagccCttggctccatccatggaatg	9	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:48839424C>A	uc004dly.1	-	17	1601	c.1566G>T	c.(1564-1566)AAG>AAT	p.K522N	GRIPAP1_uc004dlz.2_Missense_Mutation_p.K412N|GRIPAP1_uc004dma.2_Missense_Mutation_p.K469N	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	522	Potential.					early endosome				breast(2)|kidney(1)	3						CAAACCAGCCCTTGGCTCCAT	0.577													A	48839424	C	A	48839424	3	1	27	1	0	0	0	0	1	0	0	0	6789	680	24	5	1053	5	GRIPAP1	23	48839424	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1571	48839424	106431136	8508	32459											
GPKOW	27238	broad.mit.edu	37	chrX	48970832	48970832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaccatcacacggtcacCctctgccttgggaaccaggg	9	17	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:48970832C>T	uc004dmr.2	-	10	1262	c.1255G>A	c.(1255-1257)GGT>AGT	p.G419S		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	419	KOW 2.					nucleus	nucleic acid binding			ovary(2)	2						ACACGGTCACCCTCTGCCTTG	0.607													T	48970832	C	T	48970832	3	4	27	1	0	0	0	0	1	0	0	0	6613	623	22	4	183	4	GPKOW	23	48970832	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	131408	48970832	106299728	8509	32460											
GPKOW	27238	broad.mit.edu	37	chrX	48972254	48972254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggttcccaccttggtgttGtaatattggcctcctttgta	10	9	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:48972254G>A	uc004dmr.2	-	8	1138	c.1131C>T	c.(1129-1131)TAC>TAT	p.Y377Y		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	377						nucleus	nucleic acid binding			ovary(2)	2						CCTTGGTGTTGTAATATTGGC	0.567													A	48972254	G	A	48972254	2	1	27	1	0	0	0	0	0	0	0	1	6613	1372	48	4		4	GPKOW	23	48972254	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1422	48972254	106298306	8510	32461											
PPP1R3F	89801	broad.mit.edu	37	chrX	49127054	49127054	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacgacggcggccgcaccgAccgctttgccttccagctgc	12	18	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:49127054A>G	uc004dnh.1	+	1	738	c.722A>G	c.(721-723)GAC>GGC	p.D241G	PPP1R3F_uc011mnd.1_Intron|PPP1R3F_uc004dni.2_Intron	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	241	CBM21.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)					GGCCGCACCGACCGCTTTGCC	0.711													G	49127054	A	G	49127054	3	3	27	1	0	0	0	0	1	0	0	0	12375	275	10	3	724	3	PPP1R3F	23	49127054	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	154800	49127054	106143506	8511	32462											
GAGE10	643832	broad.mit.edu	37	chrX	49161405	49161405	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgtagagccccctgaaatgAttgggcctatgctggtgagt	13	8	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:49161405A>T	uc010nir.1	+	2	183	c.67A>T	c.(67-69)ATT>TTT	p.I23F		NM_001098413	NP_001091883	A6NGK3	GAG10_HUMAN	G antigen 10	23											0	Ovarian(276;0.236)					CCCTGAAATGATTGGGCCTAT	0.408													T	49161405	A	T	49161405	3	4	27	1	0	0	0	0	1	0	0	0	6187	333	12	5	69	5	GAGE10	23	49161405	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	34351	49161405	106109155	8512	32463											
GAGE12J	729396	broad.mit.edu	37	chrX	49179707	49179707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatcgacctattattggcCtagaccaagaccctatgtac	7	11	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:49179707C>T	uc010nit.2	+	2	151	c.35C>T	c.(34-36)CCT>CTT	p.P12L	GAGE12J_uc004dnl.3_Missense_Mutation_p.P12L|GAGE10_uc010nis.2_Intron|GAGE12J_uc004dnk.3_Missense_Mutation_p.P12L	NM_001098406	NP_001091876	A6NER3	GG12J_HUMAN	G antigen 12J	12											0	Ovarian(276;0.236)					TATTATTGGCCTAGACCAAGA	0.438													T	49179707	C	T	49179707	3	4	27	1	0	0	0	0	1	0	0	0	6188	681	24	4	37	4	GAGE12J	23	49179707	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	18302	49179707	106090853	8513	32464											
CLCN5	1184	broad.mit.edu	37	chrX	49855016	49855016	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaaccccggagaaatgatcCtttgttgactgtccttactc	8	11	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:49855016C>A	uc004dos.1	+	10	2026	c.1778C>A	c.(1777-1779)CCT>CAT	p.P593H	CLCN5_uc004dor.1_Missense_Mutation_p.P663H|CLCN5_uc004doq.1_Missense_Mutation_p.P663H|CLCN5_uc004dot.1_Missense_Mutation_p.P593H	NM_000084	NP_000075	P51795	CLCN5_HUMAN	chloride channel 5 isoform b	593	CBS 1.|Cytoplasmic (By similarity).				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			ovary(2)|lung(1)|central_nervous_system(1)	4	Ovarian(276;0.236)					AGAAATGATCCTTTGTTGACT	0.478													A	49855016	C	A	49855016	3	1	27	1	0	0	0	0	1	0	0	0	3466	681	24	5	2030	5	CLCN5	23	49855016	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	675309	49855016	105415544	8514	32465											
AKAP4	8852	broad.mit.edu	37	chrX	49958148	49958148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacagatttctcttgacagCtgagacaaagtctgagtcag	10	8	3	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:49958148C>T	uc004dow.1	-	5	1340	c.1216G>A	c.(1216-1218)GCT>ACT	p.A406T	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.A228T|AKAP4_uc004dou.1_Missense_Mutation_p.A397T	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	406					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					CTCTTGACAGCTGAGACAAAG	0.453													T	49958148	C	T	49958148	3	4	27	1	0	0	0	0	1	0	0	0	453	797	28	2	1356	2	AKAP4	23	49958148	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	103132	49958148	105312412	8515	32466											
AKAP4	8852	broad.mit.edu	37	chrX	49958224	49958224	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcaagaatcaatcaaatcGgacacaatctccttggtgtg	8	9	3	1	rs140947270		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:49958224G>A	uc004dow.1	-	5	1264	c.1140C>T	c.(1138-1140)TCC>TCT	p.S380S	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Silent_p.S202S|AKAP4_uc004dou.1_Silent_p.S371S	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	380					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					CAATCAAATCGGACACAATCT	0.463													A	49958224	G	A	49958224	2	1	27	1	0	0	0	0	0	0	0	1	453	1103	39	1		1	AKAP4	23	49958224	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	76	49958224	105312336	8516	32467											
CCNB3	85417	broad.mit.edu	37	chrX	50055623	50055624	+	Frame_Shift_Del	DEL	AG	AG	-													gaaatcttcagttacatgaaAgagagagaggtatttaggtt					rs148251422		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:50055622_50055623AAG>A	uc004dox.4	+	6	3711_3712	c.3413_3414AAG>A	c.(3412-3414)aaafs	p.K1138fs	CCNB3_uc004doy.3_Frame_Shift_Del_p.K1138fs|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Frame_Shift_Del_p.K30fs	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	1138					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGTTACATGAAAGAGAGAGAGG	0.411													-	50055624	AG	-	50055623	7	5	27	1	0	1	0	1	0	0	0	0	2914	69	3	0	3432	0	CCNB3	23	50055623	Frame_Shift_Del	DEL	AG	TCGA-BR-6452-01A-12D-1800-08	97399	50055623	105214937	8517	32468											
DGKK	139189	broad.mit.edu	37	chrX	50213510	50213510	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcaagctctggacagggCtctggtatgggttctggcga	17	8	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:50213510C>T	uc010njr.1	-	1	228	c.168G>A	c.(166-168)GAG>GAA	p.E56E		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	56	3.|33 X 4 AA approximate tandem repeats of E-P-A-P.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					CTGGACAGGGCTCTGGTATGG	0.318													T	50213510	C	T	50213510	2	4	27	1	0	0	0	0	0	0	0	1	4472	796	28	2		2	DGKK	23	50213510	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	157887	50213510	105057050	8518	32469											
NUDT10	170685	broad.mit.edu	37	chrX	51075982	51075982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgggggcatggagcccgaGgaggagccgggcggtgcggc	24	10	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:51075982G>A	uc004dph.2	+	2	385	c.165G>A	c.(163-165)GAG>GAA	p.E55E	NUDT10_uc004dpi.3_Silent_p.E55E	NM_153183	NP_694853	Q8NFP7	NUD10_HUMAN	nudix-type motif 10	55	Nudix box.|Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding				0	Ovarian(276;0.236)					TGGAGCCCGAGGAGGAGCCGG	0.687													A	51075982	G	A	51075982	2	1	27	1	0	0	0	0	0	0	0	1	10726	991	35	4		4	NUDT10	23	51075982	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	862472	51075982	104194578	8519	32470											
MAGED1	9500	broad.mit.edu	37	chrX	51639598	51639598	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgcaccagttccagtgAccactcagaacccacctggc	9	16	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:51639598A>G	uc004dpm.2	+	4	942	c.847A>G	c.(847-849)ACC>GCC	p.T283A	MAGED1_uc004dpn.2_Missense_Mutation_p.T339A|MAGED1_uc004dpo.2_Missense_Mutation_p.T283A	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform b	283	Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)					AGTTCCAGTGACCACTCAGAA	0.587										Multiple Myeloma(10;0.10)			G	51639598	A	G	51639598	3	3	27	1	0	0	0	0	1	0	0	0	9183	275	10	3	1029	3	MAGED1	23	51639598	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	563616	51639598	103630962	8520	32471											
KDM5C	8242	broad.mit.edu	37	chrX	53244983	53244983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgggtccttacaaactgGgcattgctgtggttcctccg	13	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:53244983G>A	uc004drz.2	-	7	1490	c.957C>T	c.(955-957)GCC>GCT	p.A319A	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Silent_p.A252A|KDM5C_uc004dsa.2_Silent_p.A318A	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	319					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						TTACAAACTGGGCATTGCTGT	0.532			N|F|S		clear cell renal carcinoma								A	53244983	G	A	53244983	2	1	27	1	0	0	0	0	0	0	0	1	8135	1219	43	4		4	KDM5C	23	53244983	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1605385	53244983	102025577	8521	32472											
KDM5C	8242	broad.mit.edu	37	chrX	53247567	53247567	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtccaagtagttcagtttcActctcgtctgggcctgaaga	11	10	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:53247567A>G	uc004drz.2	-	3	775	c.242T>C	c.(241-243)GTG>GCG	p.V81A	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Intron|KDM5C_uc004dsa.2_Missense_Mutation_p.V81A	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	81	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						GTTCAGTTTCACTCTCGTCTG	0.507			N|F|S		clear cell renal carcinoma								G	53247567	A	G	53247567	3	3	27	1	0	0	0	0	1	0	0	0	8135	159	6	3	4634	3	KDM5C	23	53247567	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2584	53247567	102022993	8522	32473											
IQSEC2	23096	broad.mit.edu	37	chrX	53268436	53268436	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagactgacggaaactgTacgtcaccaagatcttcttc	9	10	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:53268436T>C	uc004dsd.2	-	11	3257	c.3056A>G	c.(3055-3057)TAC>TGC	p.Y1019C	IQSEC2_uc004dsc.2_Missense_Mutation_p.Y814C	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	1009	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						ACGGAAACTGTACGTCACCAA	0.507											OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	53268436	T	C	53268436	3	2	27	1	0	0	0	0	1	0	0	0	7818	1638	57	3	1430	3	IQSEC2	23	53268436	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	20869	53268436	102002124	8523	32474											
IQSEC2	23096	broad.mit.edu	37	chrX	53279871	53279871	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttgtgcttcagggtcccAtgggggctgcagccatcagc	13	14	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:53279871A>G	uc004dsd.2	-	5	2088	c.1887T>C	c.(1885-1887)CAT>CAC	p.H629H	IQSEC2_uc004dsc.2_Silent_p.H424H	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	619	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						TCAGGGTCCCATGGGGGCTGC	0.507													G	53279871	A	G	53279871	2	3	27	1	0	0	0	0	0	0	0	1	7818	214	8	3		3	IQSEC2	23	53279871	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	11435	53279871	101990689	8524	32475											
IQSEC2	23096	broad.mit.edu	37	chrX	53280312	53280312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagacatgggccctgacggGtggcagttcagggcttcgtc	15	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:53280312G>A	uc004dsd.2	-	5	1647	c.1446C>T	c.(1444-1446)CAC>CAT	p.H482H	IQSEC2_uc004dsc.2_Silent_p.H277H	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	472					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						GCCCTGACGGGTGGCAGTTCA	0.438													A	53280312	G	A	53280312	2	1	27	1	0	0	0	0	0	0	0	1	7818	1252	44	4		4	IQSEC2	23	53280312	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	441	53280312	101990248	8525	32476											
IQSEC2	23096	broad.mit.edu	37	chrX	53285127	53285127	+	Frame_Shift_Del	DEL	G	G	-													agggaaggcccactccagcaGgggggccccccatgtggctg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:53285127delG	uc004dsd.2	-	3	1055	c.854delC	c.(853-855)CCTfs	p.P285fs	IQSEC2_uc004dsc.2_Frame_Shift_Del_p.P80fs	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	275					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						CACTCCAGCAGGGGGGCCCCC	0.687													-	53285127	G	-	53285127	7	5	27	1	0	1	0	1	0	0	0	0	7818	1000	35	0	3664	0	IQSEC2	23	53285127	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	4815	53285127	101985433	8526	32477											
SMC1A	8243	broad.mit.edu	37	chrX	53440054	53440054	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgtacctgagcccgtActacctcatccttcaggcgc	9	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:53440054A>T	uc004dsg.2	-	5	719	c.650T>A	c.(649-651)GTA>GAA	p.V217E	SMC1A_uc011moe.1_Missense_Mutation_p.V195E|SMC1A_uc011mof.1_Intron|SMC1A_uc004dsi.1_Missense_Mutation_p.V83E	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	217	Potential.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6						CTGAGCCCGTACTACCTCATC	0.488													T	53440054	A	T	53440054	3	4	27	1	0	0	0	0	1	0	0	0	14781	391	14	5	3135	5	SMC1A	23	53440054	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	154927	53440054	101830506	8527	32478											
HUWE1	10075	broad.mit.edu	37	chrX	53607904	53607904	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggacacgaaggatgtagTtgatctcccgagagccgagg	14	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:53607904T>C	uc004dsp.2	-	43	6005	c.5603A>G	c.(5602-5604)AAC>AGC	p.N1868S	HUWE1_uc004dsn.2_Missense_Mutation_p.N693S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	1868					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						AAGGATGTAGTTGATCTCCCG	0.552													C	53607904	T	C	53607904	3	2	27	1	0	0	0	0	1	0	0	0	7461	1725	60	3	7689	3	HUWE1	23	53607904	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	167850	53607904	101662656	8528	32479											
HUWE1	10075	broad.mit.edu	37	chrX	53654765	53654765	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggttggtgataaggtcAaccactctgacggctctggt	12	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:53654765A>G	uc004dsp.2	-	16	1710	c.1308T>C	c.(1306-1308)GTT>GTC	p.V436V		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	436					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						TGATAAGGTCAACCACTCTGA	0.398													G	53654765	A	G	53654765	2	3	27	1	0	0	0	0	0	0	0	1	7461	117	5	3		3	HUWE1	23	53654765	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	46861	53654765	101615795	8529	32480											
PHF8	23133	broad.mit.edu	37	chrX	54014280	54014280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctgaatccaagtcaaattCgtcttccatcacctgttctg	5	12	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:54014280C>T	uc004dsu.2	-	15	2009	c.1936G>A	c.(1936-1938)GAA>AAA	p.E646K	PHF8_uc004dst.2_Missense_Mutation_p.E610K|PHF8_uc004dsv.2_Missense_Mutation_p.E476K|PHF8_uc004dsw.2_Missense_Mutation_p.E509K|PHF8_uc004dsx.2_Missense_Mutation_p.E374K|PHF8_uc004dsy.2_Missense_Mutation_p.E610K	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	646					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						AAGTCAAATTCGTCTTCCATC	0.453													T	54014280	C	T	54014280	3	4	27	1	0	0	0	0	1	0	0	0	11840	893	31	1	1448	1	PHF8	23	54014280	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	359515	54014280	101256280	8530	32481											
PHF8	23133	broad.mit.edu	37	chrX	54019239	54019239	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caagtctggtgagtcgtcatCtgagtcattcaagcaggcac	11	10	5	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:54019239C>T	uc004dsu.2	-	14	1841	c.1768G>A	c.(1768-1770)GAT>AAT	p.D590N	PHF8_uc004dst.2_Missense_Mutation_p.D554N|PHF8_uc004dsv.2_Missense_Mutation_p.D420N|PHF8_uc004dsw.2_Missense_Mutation_p.D453N|PHF8_uc004dsx.2_Missense_Mutation_p.D318N|PHF8_uc004dsy.2_Missense_Mutation_p.D554N	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	590					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						GAGTCGTCATCTGAGTCATTC	0.522													T	54019239	C	T	54019239	3	4	27	1	0	0	0	0	1	0	0	0	11840	913	32	4	1620	4	PHF8	23	54019239	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4959	54019239	101251321	8531	32482											
PHF8	23133	broad.mit.edu	37	chrX	54037577	54037577	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaatgaaaagtgtctgTccttgcttcacggaacactt	11	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:54037577T>C	uc004dsu.2	-	8	1105	c.1032A>G	c.(1030-1032)GGA>GGG	p.G344G	PHF8_uc004dst.2_Silent_p.G308G|PHF8_uc004dsv.2_Silent_p.G174G|PHF8_uc004dsw.2_Silent_p.G308G|PHF8_uc004dsx.2_Silent_p.G72G|PHF8_uc004dsy.2_Silent_p.G308G	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	344	JmjC.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						AAAGTGTCTGTCCTTGCTTCA	0.498													C	54037577	T	C	54037577	2	2	27	1	0	0	0	0	0	0	0	1	11840	1654	58	3		3	PHF8	23	54037577	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	18338	54037577	101232983	8532	32483											
TSR2	90121	broad.mit.edu	37	chrX	54467179	54467179	+	Frame_Shift_Del	DEL	G	G	-													caggagaaggccaagtggctGgggggtgcagtggaggatta							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:54467178_54467178TG>T	uc004dte.3	+	1	139	c.137_137TG>T	c.(136-138)ctgfs	p.L46fs	TSR2_uc004dtf.3_Intron	NM_058163	NP_477511	Q969E8	TSR2_HUMAN	Homo sapiens TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR2), mRNA.	46					rRNA processing		protein binding	p.L46L(1)		breast(1)|endometrium(3)|lung(2)	6						GCCAAGTGGCTGGGGGGTGCA	0.617													-	54467179	G	-	54467179	7	5	27	1	0	1	0	1	0	0	0	0	16662	1335	47	0	144	0	TSR2	23	54467179	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	429602	54467179	100803381	8533	32484											
FGD1	2245	broad.mit.edu	37	chrX	54491892	54491892	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacacactcactttgggcaTccttgctgtccggggagcca	11	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:54491892T>C	uc004dtg.2	-	8	2362	c.1628A>G	c.(1627-1629)GAT>GGT	p.D543G	FGD1_uc011moi.1_Missense_Mutation_p.D301G	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	543	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						ACTTTGGGCATCCTTGCTGTC	0.562													C	54491892	T	C	54491892	3	2	27	1	0	0	0	0	1	0	0	0	5832	1435	50	3	1301	3	FGD1	23	54491892	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	24713	54491892	100778668	8534	32485											
ITIH5L	347365	broad.mit.edu	37	chrX	54784875	54784875	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccctgggcaaccaaaggcCttctggctgttgttggtggc	13	12	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:54784875C>A	uc004dtj.2	-	8	1662	c.1632G>T	c.(1630-1632)AAG>AAT	p.K544N		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	544					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						AACCAAAGGCCTTCTGGCTGT	0.617													A	54784875	C	A	54784875	3	1	27	1	0	0	0	0	1	0	0	0	7908	680	24	5	2333	5	ITIH5L	23	54784875	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	292983	54784875	100485685	8535	32486											
TRO	7216	broad.mit.edu	37	chrX	54955368	54955368	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggcttcagcgatggtgcTagtattagcttcaatggtgc	13	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:54955368T>C	uc004dtq.2	+	12	2318	c.2211T>C	c.(2209-2211)GCT>GCC	p.A737A	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.A268A|TRO_uc004dtw.2_Silent_p.A340A|TRO_uc004dtx.2_Silent_p.A120A	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	737					embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						GCGATGGTGCTAGTATTAGCT	0.537													C	54955368	T	C	54955368	2	2	27	1	0	0	0	0	0	0	0	1	16571	1509	53	3		3	TRO	23	54955368	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	170493	54955368	100315192	8536	32487											
TRO	7216	broad.mit.edu	37	chrX	54955548	54955548	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagcattagctttggttgTgcacacagcaccagcactag	10	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:54955548T>C	uc004dtq.2	+	12	2498	c.2391T>C	c.(2389-2391)TGT>TGC	p.C797C	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.C328C|TRO_uc004dtw.2_Silent_p.C400C|TRO_uc004dtx.2_Silent_p.C180C	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	797	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						GCTTTGGTTGTGCACACAGCA	0.527													C	54955548	T	C	54955548	2	2	27	1	0	0	0	0	0	0	0	1	16571	1702	59	3		3	TRO	23	54955548	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	180	54955548	100315012	8537	32488											
PFKFB1	5207	broad.mit.edu	37	chrX	54989787	54989787	+	Frame_Shift_Del	DEL	G	G	-													cccaccatgatcaccattgtGggggaattggtaaactgggg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:54989786_54989786TG>T	uc004dty.1	-	1	198	c.127_127CA>A	c.(127-129)acafs	p.T43fs	PFKFB1_uc010nkd.1_Frame_Shift_Del_p.T51fs|PFKFB1_uc011mol.1_Intron	NM_002625	NP_002616	P16118	F261_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.	43	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						ATCACCATTGTGGGGGAATTG	0.438													-	54989787	G	-	54989787	7	5	27	1	0	1	0	1	0	0	0	0	11760	1335	47	0	1341	0	PFKFB1	23	54989787	Frame_Shift_Del	DEL	G	TCGA-BR-6452-01A-12D-1800-08	34239	54989787	100280773	8538	32489											
KLF8	11279	broad.mit.edu	37	chrX	56276693	56276693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcataaacaacttggagGtccaacttaattcagaaggt	7	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:56276693G>A	uc004dur.2	+	2	983	c.37G>A	c.(37-39)GTC>ATC	p.V13I	KLF8_uc010nkg.2_Intron|KLF8_uc011mop.1_Missense_Mutation_p.V13I|KLF8_uc010nkh.2_RNA	NM_007250	NP_009181	O95600	KLF8_HUMAN	Kruppel-like factor 8 isoform 1	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CAACTTGGAGGTCCAACTTAA	0.353													A	56276693	G	A	56276693	3	1	27	1	0	0	0	0	1	0	0	0	8352	1261	44	4	43	4	KLF8	23	56276693	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1286906	56276693	98993867	8539	32490											
FAAH2	158584	broad.mit.edu	37	chrX	57367813	57367813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggtatatttggacacaaGccttctccaggtaatgttaa	8	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:57367813G>A	uc004dvc.2	+	5	881	c.732G>A	c.(730-732)AAG>AAA	p.K244K		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	244						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			ovary(3)	3						TTGGACACAAGCCTTCTCCAG	0.413										HNSCC(52;0.14)			A	57367813	G	A	57367813	2	1	27	1	0	0	0	0	0	0	0	1	5354	962	34	2		2	FAAH2	23	57367813	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1091120	57367813	97902747	8540	32491											
ZXDA	7789	broad.mit.edu	37	chrX	57935777	57935777	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcacacctcacatttgaAcgagttctcctgctcatggc	7	15	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:57935777A>T	uc004dve.2	-	1	1291	c.1078T>A	c.(1078-1080)TTC>ATC	p.F360I		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	360	C2H2-type 4.|Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						TCACATTTGAACGAGTTCTCC	0.627													T	57935777	A	T	57935777	3	4	27	1	0	0	0	0	1	0	0	0	18247	43	2	5	1325	5	ZXDA	23	57935777	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	567964	57935777	97334783	8541	32492											
SPIN4	139886	broad.mit.edu	37	chrX	62570336	62570336	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaacacatgctccactgcCttgccaatcagggaatctgc	7	14	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:62570336C>A	uc004dvf.2	-	1	883	c.363G>T	c.(361-363)AAG>AAT	p.K121N		NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN	spindlin family, member 4	121					gamete generation					ovary(1)|lung(1)	2						GCTCCACTGCCTTGCCAATCA	0.498													A	62570336	C	A	62570336	3	1	27	1	0	0	0	0	1	0	0	0	15055	680	24	5	390	5	SPIN4	23	62570336	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	4634559	62570336	92700224	8542	32493											
ARHGEF9	23229	broad.mit.edu	37	chrX	62893983	62893983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctctaaacgtcgcttgcGttcgttgatctgctgagtca	9	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:62893983G>A	uc004dvl.2	-	6	1698	c.859C>T	c.(859-861)CGC>TGC	p.R287C	ARHGEF9_uc004dvj.1_Missense_Mutation_p.R176C|ARHGEF9_uc004dvk.1_Missense_Mutation_p.R149C|ARHGEF9_uc011mos.1_Missense_Mutation_p.R266C|ARHGEF9_uc004dvm.1_Missense_Mutation_p.R266C|ARHGEF9_uc011mot.1_Missense_Mutation_p.R234C|ARHGEF9_uc004dvn.2_Missense_Mutation_p.R294C	NM_015185	NP_056000	O43307	ARHG9_HUMAN	Cdc42 guanine exchange factor 9	287	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8						CGTCGCTTGCGTTCGTTGATC	0.458													A	62893983	G	A	62893983	3	1	27	1	0	0	0	0	1	0	0	0	912	1145	40	1	711	1	ARHGEF9	23	62893983	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	323647	62893983	92376577	8543	32494											
ARHGEF9	23229	broad.mit.edu	37	chrX	62944564	62944564	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgatcccatactgcctcagCactaacgatggaatctccag	8	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:62944564C>G	uc004dvl.2	-	2	876	c.37G>C	c.(37-39)GCT>CCT	p.A13P	ARHGEF9_uc004dvj.1_Intron|ARHGEF9_uc004dvk.1_5'UTR|ARHGEF9_uc011mos.1_5'UTR|ARHGEF9_uc004dvm.1_5'UTR|ARHGEF9_uc011mot.1_Intron|ARHGEF9_uc004dvn.2_Missense_Mutation_p.A20P	NM_015185	NP_056000	O43307	ARHG9_HUMAN	Cdc42 guanine exchange factor 9	13	SH3.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8						ACTGCCTCAGCACTAACGATG	0.512													G	62944564	C	G	62944564	3	3	27	1	0	0	0	0	1	0	0	0	912	710	25	5	1549	5	ARHGEF9	23	62944564	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	50581	62944564	92325996	8544	32495											
MTMR8	55613	broad.mit.edu	37	chrX	63445207	63445207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacagcagtgaaaagtggCgtctgtgccttgacatccaa	11	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:63445207C>T	uc011mou.1	-	10	1517	c.1449G>A	c.(1447-1449)ACG>ACA	p.T483T	ASB12_uc004dvp.1_Silent_p.T99T|ASB12_uc004dvq.1_Silent_p.T108T|ASB12_uc004dvr.1_Silent_p.T108T	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	Error:Variant_position_missing_in_Q96EF0_after_alignment						nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						TGAAAAGTGGCGTCTGTGCCT	0.522													T	63445207	C	T	63445207	2	4	27	1	0	0	0	0	0	0	0	1	9949	755	27	1		1	MTMR8	23	63445207	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	500643	63445207	91825353	8545	32496											
MTMR8	55613	broad.mit.edu	37	chrX	63445479	63445479	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggctgcaggagggagaagaTcttggtgatgtccatgaggt	18	5	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:63445479T>C	uc011mou.1	-	10	1245	c.1177A>G	c.(1177-1179)ATC>GTC	p.I393V	ASB12_uc004dvp.1_Missense_Mutation_p.I9V|ASB12_uc004dvq.1_Missense_Mutation_p.I18V|ASB12_uc004dvr.1_Missense_Mutation_p.I18V	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	Error:Variant_position_missing_in_Q96EF0_after_alignment						nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						AGGGAGAAGATCTTGGTGATG	0.478													C	63445479	T	C	63445479	3	2	27	1	0	0	0	0	1	0	0	0	9949	1435	50	3		3	MTMR8	23	63445479	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	272	63445479	91825081	8546	32497											
ZC3H12B	340554	broad.mit.edu	37	chrX	64722378	64722378	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactattcctcttacaacaaCgtgtatttggctgtagctga	7	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:64722378C>T	uc010nko.2	+	5	1776	c.1767C>T	c.(1765-1767)AAC>AAT	p.N589N		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	589							endonuclease activity|nucleic acid binding|zinc ion binding			lung(1)|kidney(1)|pancreas(1)	3						CTTACAACAACGTGTATTTGG	0.507													T	64722378	C	T	64722378	2	4	27	1	0	0	0	0	0	0	0	1	17559	535	19	1		1	ZC3H12B	23	64722378	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1276899	64722378	90548182	8547	32498											
MSN	4478	broad.mit.edu	37	chrX	64951829	64951829	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatgccctgggtctcaacatCtatgagcagaatgacaggta	11	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:64951829C>A	uc004dwf.2	+	6	879	c.681C>A	c.(679-681)ATC>ATA	p.I227I		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	227	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						GTCTCAACATCTATGAGCAGA	0.458			T	ALK	ALCL								A	64951829	C	A	64951829	2	1	27	1	0	0	0	0	0	0	0	1	9885	903	32	5		5	MSN	23	64951829	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	229451	64951829	90318731	8548	32499											
MSN	4478	broad.mit.edu	37	chrX	64957057	64957057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaactggaagaacagaccCgtagggctctggaacttgag	13	9	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:64957057C>T	uc004dwf.2	+	10	1306	c.1108C>T	c.(1108-1110)CGT>TGT	p.R370C		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	370					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						AGAACAGACCCGTAGGGCTCT	0.537			T	ALK	ALCL								T	64957057	C	T	64957057	3	4	27	1	0	0	0	0	1	0	0	0	9885	652	23	1	1146	1	MSN	23	64957057	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	5228	64957057	90313503	8549	32500											
OPHN1	4983	broad.mit.edu	37	chrX	67502906	67502906	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttagtgacttaccatcatcaTcctctcattttctacctcgt	3	13	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:67502906T>A	uc004dww.3	-	4	598	c.304A>T	c.(304-306)ATG>TTG	p.M102L	OPHN1_uc011mpg.1_Missense_Mutation_p.M102L|OPHN1_uc004dwx.2_Missense_Mutation_p.M102L	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	102					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2						ACCATCATCATCCTCTCATTT	0.383													A	67502906	T	A	67502906	3	1	27	1	0	0	0	0	1	0	0	0	10875	1435	50	5	2188	5	OPHN1	23	67502906	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2545849	67502906	87767654	8550	32501											
YIPF6	286451	broad.mit.edu	37	chrX	67751834	67751834	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgattctcacctttactcCtcagtaaatcaggaatggga	8	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:67751834C>A	uc004dwy.2	+	7	727	c.704C>A	c.(703-705)CCT>CAT	p.P235H	YIPF6_uc011mph.1_Missense_Mutation_p.P192H|uc004dwz.2_5'Flank	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	235						endoplasmic reticulum|integral to membrane					0						ACCTTTACTCCTCAGTAAATC	0.418													A	67751834	C	A	67751834	3	1	27	1	0	0	0	0	1	0	0	0	17479	681	24	5	730	5	YIPF6	23	67751834	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	248928	67751834	87518726	8551	32502											
EFNB1	1947	broad.mit.edu	37	chrX	68060180	68060180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccaaggtggcattgttcGcggctgtcggtgccggttgc	15	11	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:68060180G>A	uc004dxd.3	+	5	1504	c.724G>A	c.(724-726)GCG>ACG	p.A242T	EFNB1_uc004dxe.2_Missense_Mutation_p.A242T	NM_004429	NP_004420	P98172	EFNB1_HUMAN	ephrin-B1 precursor	242	Helical; (Potential).				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding				0						GGCATTGTTCGCGGCTGTCGG	0.582													A	68060180	G	A	68060180	3	1	27	1	0	0	0	0	1	0	0	0	4955	1087	38	1	742	1	EFNB1	23	68060180	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	308346	68060180	87210380	8552	32503											
EFNB1	1947	broad.mit.edu	37	chrX	68060449	68060449	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcaccctgtctacatcgtCcaagagatgccgccccagag	11	15	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:68060449C>T	uc004dxd.3	+	5	1773	c.993C>T	c.(991-993)GTC>GTT	p.V331V	EFNB1_uc004dxe.2_Silent_p.V331V	NM_004429	NP_004420	P98172	EFNB1_HUMAN	ephrin-B1 precursor	331	Cytoplasmic (Potential).				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding				0						TCTACATCGTCCAAGAGATGC	0.612													T	68060449	C	T	68060449	2	4	27	1	0	0	0	0	0	0	0	1	4955	842	30	4		4	EFNB1	23	68060449	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	269	68060449	87210111	8553	32504											
PJA1	64219	broad.mit.edu	37	chrX	68381278	68381278	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccacctcccccttcacatAttcgctacagcagatggggc	8	16	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:68381278A>G	uc004dxh.2	-	2	2090	c.1804T>C	c.(1804-1806)TAT>CAT	p.Y602H	PJA1_uc011mpi.1_Missense_Mutation_p.Y320H|PJA1_uc004dxg.2_Missense_Mutation_p.Y414H|PJA1_uc004dxi.2_Missense_Mutation_p.Y547H	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	602	RING-type.						zinc ion binding				0						CCCTTCACATATTCGCTACAG	0.567													G	68381278	A	G	68381278	3	3	27	1	0	0	0	0	1	0	0	0	11961	449	16	3	131	3	PJA1	23	68381278	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	320829	68381278	86889282	8554	32505											
PJA1	64219	broad.mit.edu	37	chrX	68381999	68381999	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcactgtcagagtcttcgtcGcagtatttgtagtaatcatc	8	9	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:68381999G>T	uc004dxh.2	-	2	1369	c.1083C>A	c.(1081-1083)TGC>TGA	p.C361*	PJA1_uc011mpi.1_Nonsense_Mutation_p.C79*|PJA1_uc004dxg.2_Nonsense_Mutation_p.C173*|PJA1_uc004dxi.2_Nonsense_Mutation_p.C306*	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	361							zinc ion binding				0						AGTCTTCGTCGCAGTATTTGT	0.537													T	68381999	G	T	68381999	4	4	27	1	0	0	0	0	0	1	0	0	11961	1079	38	5	852	5	PJA1	23	68381999	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	721	68381999	86888561	8555	32506											
EDA	1896	broad.mit.edu	37	chrX	68836169	68836169	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccatgggctacccggaggTggagcgcagggaactcctgc	17	12	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:68836169T>C	uc004dxs.2	+	1	259	c.17T>C	c.(16-18)GTG>GCG	p.V6A	EDA_uc004dxr.2_Missense_Mutation_p.V6A|EDA_uc011mpj.1_Missense_Mutation_p.V6A|EDA_uc004dxn.1_Missense_Mutation_p.V6A|EDA_uc004dxm.1_Missense_Mutation_p.V6A|EDA_uc004dxp.1_Missense_Mutation_p.V6A|EDA_uc004dxq.1_Missense_Mutation_p.V6A|EDA_uc004dxl.1_Missense_Mutation_p.V6A	NM_001399	NP_001390	Q92838	EDA_HUMAN	ectodysplasin A isoform EDA-A1	6	Cytoplasmic (Potential).				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			ovary(2)|large_intestine(1)	3						TACCCGGAGGTGGAGCGCAGG	0.726													C	68836169	T	C	68836169	3	2	27	1	0	0	0	0	1	0	0	0	4903	1696	59	3	19	3	EDA	23	68836169	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	454170	68836169	86434391	8556	32507											
PDZD11	51248	broad.mit.edu	37	chrX	69507149	69507149	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggaaagaagcgcacacgcAtgctgatttcacgagctgtc	12	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:69507149A>G	uc004dyd.1	-	6	467	c.365T>C	c.(364-366)ATG>ACG	p.M122T	KIF4A_uc004dyg.2_5'Flank|KIF4A_uc010nkw.2_5'Flank|PDZD11_uc004dye.1_Missense_Mutation_p.M154T|KIF4A_uc004dyf.1_5'Flank	NM_016484	NP_057568	Q5EBL8	PDZ11_HUMAN	PDZ domain containing 11	122	PDZ.					basolateral plasma membrane|cytosol|extracellular region	protein C-terminus binding				0						GCGCACACGCATGCTGATTTC	0.443													G	69507149	A	G	69507149	3	3	27	1	0	0	0	0	1	0	0	0	11700	217	8	3	65	3	PDZD11	23	69507149	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	670980	69507149	85763411	8557	32508											
KIF4A	24137	broad.mit.edu	37	chrX	69639532	69639532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagcttgggcactgttgaaCggacccaggattccgaaggc	13	10	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:69639532C>T	uc004dyg.2	+	30	3521	c.3394C>T	c.(3394-3396)CGG>TGG	p.R1132W	KIF4A_uc010nkw.2_Missense_Mutation_p.R1132W	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	1132	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4						CACTGTTGAACGGACCCAGGA	0.483													T	69639532	C	T	69639532	3	4	27	1	0	0	0	0	1	0	0	0	8303	527	19	1	3508	1	KIF4A	23	69639532	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	132383	69639532	85631028	8558	32509											
KIF4A	24137	broad.mit.edu	37	chrX	69639929	69639929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagatcctgaaagagatgtgCgatgtggagcaggtgctgtc	15	6	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:69639929C>T	uc004dyg.2	+	31	3640	c.3513C>T	c.(3511-3513)TGC>TGT	p.C1171C	KIF4A_uc010nkw.2_Silent_p.C1171C	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	1171	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4						AAGAGATGTGCGATGTGGAGC	0.502													T	69639929	C	T	69639929	2	4	27	1	0	0	0	0	0	0	0	1	8303	776	27	1		1	KIF4A	23	69639929	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	397	69639929	85630631	8559	32510											
GDPD2	54857	broad.mit.edu	37	chrX	69647035	69647035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggaagacagctgaatgcGgagctactgtgtttgagact	14	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:69647035G>A	uc004dyh.2	+	9	1002	c.751G>A	c.(751-753)GGA>AGA	p.G251R	GDPD2_uc010nkx.1_Missense_Mutation_p.G251R|GDPD2_uc010nky.1_Missense_Mutation_p.G37R|GDPD2_uc011mpk.1_Missense_Mutation_p.G251R|GDPD2_uc011mpl.1_Missense_Mutation_p.G172R|GDPD2_uc011mpm.1_Missense_Mutation_p.G172R	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN	osteoblast differentiation promoting factor	251	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			ovary(2)	2	Renal(35;0.156)					AGCTGAATGCGGAGCTACTGT	0.572													A	69647035	G	A	69647035	3	1	27	1	0	0	0	0	1	0	0	0	6324	1117	39	1	781	1	GDPD2	23	69647035	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	7106	69647035	85623525	8560	32511											
GDPD2	54857	broad.mit.edu	37	chrX	69649837	69649837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgcgccagatatatggaCgtcagggaggcaacagaacg	14	8	1	2	rs35552527	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:69649837C>T	uc004dyh.2	+	12	1482	c.1231C>T	c.(1231-1233)CGT>TGT	p.R411C	GDPD2_uc010nky.1_Silent_p.D263D|GDPD2_uc011mpk.1_Missense_Mutation_p.R411C|GDPD2_uc011mpl.1_Missense_Mutation_p.R332C|GDPD2_uc011mpm.1_Missense_Mutation_p.R332C	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN	osteoblast differentiation promoting factor	411	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			ovary(2)	2	Renal(35;0.156)					GATATATGGACGTCAGGGAGG	0.512													T	69649837	C	T	69649837	3	4	27	1	0	0	0	0	1	0	0	0	6324	536	19	1	1273	1	GDPD2	23	69649837	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2802	69649837	85620723	8561	32512											
GDPD2	54857	broad.mit.edu	37	chrX	69652204	69652204	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacctatttgtagtgaacaAgccctggctcttctctctgc	8	12	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:69652204A>G	uc004dyh.2	+	13	1606	c.1355A>G	c.(1354-1356)AAG>AGG	p.K452R	GDPD2_uc010nky.1_3'UTR|GDPD2_uc011mpk.1_Missense_Mutation_p.K503R|GDPD2_uc011mpl.1_Missense_Mutation_p.K373R|GDPD2_uc011mpm.1_Missense_Mutation_p.K373R	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN	osteoblast differentiation promoting factor	452	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			ovary(2)	2	Renal(35;0.156)					GTAGTGAACAAGCCCTGGCTC	0.502													G	69652204	A	G	69652204	3	3	27	1	0	0	0	0	1	0	0	0	6324	72	3	3	1558	3	GDPD2	23	69652204	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	2367	69652204	85618356	8562	32513											
SLC7A3	84889	broad.mit.edu	37	chrX	70148105	70148105	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccagagcccagaggacccAagctagagtggaagaagggt	14	10	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:70148105A>G	uc004dyn.2	-	5	868	c.710T>C	c.(709-711)TTG>TCG	p.L237S	SLC7A3_uc004dyo.2_Missense_Mutation_p.L237S	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid	237	Helical; Name=6; (Potential).				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				ovary(1)|kidney(1)	2	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGAGGACCCAAGCTAGAGTG	0.488													G	70148105	A	G	70148105	3	3	27	1	0	0	0	0	1	0	0	0	14698	131	5	3	1181	3	SLC7A3	23	70148105	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	495901	70148105	85122455	8563	32514											
CXorf65	158830	broad.mit.edu	37	chrX	70326212	70326212	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttttaggcaactttactttActgcggatgtaatacagcaa	8	7	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:70326212A>G	uc011mpo.1	-	2	104	c.90T>C	c.(88-90)AGT>AGC	p.S30S	CXorf65_uc011mpp.1_5'UTR	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN	hypothetical protein LOC158830	30										central_nervous_system(1)	1						ACTTTACTTTACTGCGGATGT	0.483													G	70326212	A	G	70326212	2	3	27	1	0	0	0	0	0	0	0	1	4117	388	14	3		3	CXorf65	23	70326212	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	178107	70326212	84944348	8564	32515											
IL2RG	3561	broad.mit.edu	37	chrX	70327621	70327621	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tagggtgtaacatgggggggCccagtaggggctatgctggt	19	6	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:70327621C>G	uc004dyw.1	-	8	1089	c.1075G>C	c.(1075-1077)GCC>CCC	p.A359P	CXorf65_uc011mpo.1_5'Flank|CXorf65_uc011mpp.1_5'Flank|IL2RG_uc004dyv.1_Missense_Mutation_p.A88P|IL2RG_uc004dyx.1_Missense_Mutation_p.A169P	NM_000206	NP_000197	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma precursor	359	Cytoplasmic (Potential).				immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			pancreas(1)	1	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	CATGGGGGGGCCCAGTAGGGG	0.582									Severe_Combined_Immunodeficiency_X-linked				G	70327621	C	G	70327621	3	3	27	1	0	0	0	0	1	0	0	0	7688	739	26	5	38	5	IL2RG	23	70327621	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1409	70327621	84942939	8565	32516											
NLGN3	54413	broad.mit.edu	37	chrX	70389593	70389593	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccttcgctgccctctactaCcgtaaggacaaacggcgcca	9	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:70389593C>G	uc004dzb.2	+	7	2437	c.2133C>G	c.(2131-2133)TAC>TAG	p.Y711*	NLGN3_uc004dzc.2_Nonsense_Mutation_p.Y594*|NLGN3_uc011mps.1_Nonsense_Mutation_p.Y691*|NLGN3_uc004dze.2_Nonsense_Mutation_p.Y529*	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	731	Cytoplasmic (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)					CCCTCTACTACCGTAAGGACA	0.642													G	70389593	C	G	70389593	4	3	27	1	0	0	0	0	0	1	0	0	10463	518	18	5	2219	5	NLGN3	23	70389593	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	61972	70389593	84880967	8566	32517											
ACRC	93953	broad.mit.edu	37	chrX	70823666	70823666	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgattcggaagctcccgAcgacaatagtgatgattcgg	12	8	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:70823666A>G	uc004eae.2	+	8	1040	c.539A>G	c.(538-540)GAC>GGC	p.D180G	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	180	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					GAAGCTCCCGACGACAATAGT	0.498													G	70823666	A	G	70823666	3	3	27	1	0	0	0	0	1	0	0	0	171	275	10	3	565	3	ACRC	23	70823666	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	434073	70823666	84446894	8567	32518											
ACRC	93953	broad.mit.edu	37	chrX	70832302	70832302	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacgcatggaagtattaTgccaggaaatccaacaggat	12	7	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:70832302T>A	uc004eae.2	+	12	2349	c.1848T>A	c.(1846-1848)TAT>TAA	p.Y616*	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	616						nucleus				ovary(3)	3	Renal(35;0.156)					GGAAGTATTATGCCAGGAAAT	0.473													A	70832302	T	A	70832302	4	1	27	1	0	0	0	0	0	1	0	0	171	1471	51	5	1890	5	ACRC	23	70832302	Nonsense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	8636	70832302	84438258	8568	32519											
CXCR3	2833	broad.mit.edu	37	chrX	70836470	70836470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagttgcgggccaaagcGcccaggtccatgaggatgtc	13	13	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:70836470G>A	uc004eaf.2	-	2	920	c.852C>T	c.(850-852)GGC>GGT	p.G284G	BCYRN1_uc011mpt.1_Intron|CXCR3_uc011mpx.1_Silent_p.G331G	NM_001504	NP_001495	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3 isoform A	284	Extracellular (Potential).				cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			ovary(2)|central_nervous_system(1)	3	Renal(35;0.156)					GGGCCAAAGCGCCCAGGTCCA	0.647													A	70836470	G	A	70836470	2	1	27	1	0	0	0	0	0	0	0	1	4092	1074	38	1		1	CXCR3	23	70836470	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4168	70836470	84434090	8569	32520											
RGAG4	340526	broad.mit.edu	37	chrX	71349878	71349878	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgattctggttcctccgtcTgctaggctgtattatgggag	12	9	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:71349878T>C	uc010nlh.1	-	1	1874	c.1513A>G	c.(1513-1515)AGA>GGA	p.R505G	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	505										ovary(2)|skin(1)	3	Renal(35;0.156)					TTCCTCCGTCTGCTAGGCTGT	0.557													C	71349878	T	C	71349878	3	2	27	1	0	0	0	0	1	0	0	0	13275	1588	55	3	200	3	RGAG4	23	71349878	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	513408	71349878	83920682	8570	32521											
RGAG4	340526	broad.mit.edu	37	chrX	71350381	71350381	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtactcttcatcttcacttTcttcctcattgggactcgga	6	12	6	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:71350381T>C	uc010nlh.1	-	1	1371	c.1010A>G	c.(1009-1011)GAA>GGA	p.E337G	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	337										ovary(2)|skin(1)	3	Renal(35;0.156)					ATCTTCACTTTCTTCCTCATT	0.502													C	71350381	T	C	71350381	3	2	27	1	0	0	0	0	1	0	0	0	13275	1783	62	3	703	3	RGAG4	23	71350381	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	503	71350381	83920179	8571	32522											
PIN4	5303	broad.mit.edu	37	chrX	71416695	71416695	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagccatggaaaagttaaagTctgggatgagattcaatgaa	11	4	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:71416695T>A	uc004eam.2	+	3	288	c.253T>A	c.(253-255)TCT>ACT	p.S85T	PIN4_uc004eao.1_Missense_Mutation_p.S85T	NM_006223	NP_006214	Q9Y237	PIN4_HUMAN	protein (peptidyl-prolyl cis/trans isomerase)	60	PpiC.				protein folding|rRNA processing	cytoplasm|mitochondrial matrix|mitochondrial matrix|nucleolus|nucleolus|preribosome|spindle|spindle	bent DNA binding|DNA binding|double-stranded DNA binding|peptidyl-prolyl cis-trans isomerase activity				0	Renal(35;0.156)					AAAGTTAAAGTCTGGGATGAG	0.388													A	71416695	T	A	71416695	3	1	27	1	0	0	0	0	1	0	0	0	11931	1667	58	5	263	5	PIN4	23	71416695	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	66314	71416695	83853865	8572	32523											
ERCC6L	54821	broad.mit.edu	37	chrX	71425828	71425828	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggcctcacttgcttgagcaTcctgcagtgcactatgggat	11	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:71425828T>A	uc004eaq.1	-	2	2886	c.2789A>T	c.(2788-2790)GAT>GTT	p.D930V	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.D807V	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	930					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)					TGCTTGAGCATCCTGCAGTGC	0.408													A	71425828	T	A	71425828	3	1	27	1	0	0	0	0	1	0	0	0	5218	1435	50	5	967	5	ERCC6L	23	71425828	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	9133	71425828	83844732	8573	32524											
ERCC6L	54821	broad.mit.edu	37	chrX	71426948	71426948	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcagttgcaggattccagcTagggtcaaaaatgaccactc	9	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:71426948T>A	uc004eaq.1	-	2	1766	c.1669A>T	c.(1669-1671)AGC>TGC	p.S557C	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.S434C	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	557	Helicase C-terminal.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)					GGATTCCAGCTAGGGTCAAAA	0.413													A	71426948	T	A	71426948	3	1	27	1	0	0	0	0	1	0	0	0	5218	1522	53	5	2087	5	ERCC6L	23	71426948	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1120	71426948	83843612	8574	32525											
HDAC8	55869	broad.mit.edu	37	chrX	71787753	71787753	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttacttctttgcatgatgCcaccctccagaccagttaat	5	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:71787753C>T	uc004eau.2	-	4	465	c.423G>A	c.(421-423)TGG>TGA	p.W141*	HDAC8_uc011mqe.1_5'UTR|HDAC8_uc011mqf.1_Intron|HDAC8_uc011mqg.1_Intron|HDAC8_uc011mqh.1_Intron|HDAC8_uc010nlk.1_Nonsense_Mutation_p.W12*|HDAC8_uc004eav.2_Nonsense_Mutation_p.W141*|HDAC8_uc004eaw.2_RNA	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	141	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding				0	Renal(35;0.156)				Vorinostat(DB02546)	TTGCATGATGCCACCCTCCAG	0.413													T	71787753	C	T	71787753	4	4	27	1	0	0	0	0	0	1	0	0	7013	740	26	2	828	2	HDAC8	23	71787753	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	360805	71787753	83482807	8575	32526											
PHKA1	5255	broad.mit.edu	37	chrX	71802336	71802336	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgaatttcaatatctgccAgcatggtgaggacaaggatg	11	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:71802336A>G	uc004eax.3	-	31	3711	c.3410T>C	c.(3409-3411)CTG>CCG	p.L1137P	PHKA1_uc004eay.3_Missense_Mutation_p.L1124P|PHKA1_uc011mqi.1_Missense_Mutation_p.L1065P|PHKA1_uc010nll.2_Missense_Mutation_p.L169P	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	1137					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					AATATCTGCCAGCATGGTGAG	0.448													G	71802336	A	G	71802336	3	3	27	1	0	0	0	0	1	0	0	0	11843	188	7	3	269	3	PHKA1	23	71802336	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	14583	71802336	83468224	8576	32527											
NAP1L2	4674	broad.mit.edu	37	chrX	72433875	72433875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgcattgatgatctgacGtcttttttccagtaagggtt	10	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:72433875G>A	uc004ebi.2	-	1	810	c.454C>T	c.(454-456)CGT>TGT	p.R152C	NAP1L2_uc011mqj.1_Missense_Mutation_p.R10C	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	152					nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)					ATGATCTGACGTCTTTTTTCC	0.378													A	72433875	G	A	72433875	3	1	27	1	0	0	0	0	1	0	0	0	10157	1145	40	1	932	1	NAP1L2	23	72433875	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	631539	72433875	82836685	8577	32528											
SLC16A2	6567	broad.mit.edu	37	chrX	73749123	73749123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcgggggccttatcgtcGtctgtcttttcctgggcctt	11	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:73749123G>A	uc004ebt.2	+	5	1634	c.1468G>A	c.(1468-1470)GTC>ATC	p.V490I	SLC16A2_uc010nlr.1_Intron	NM_006517	NP_006508	P36021	MOT8_HUMAN	solute carrier family 16, member 2	416	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|ovary(1)	3					Pyruvic acid(DB00119)	CCTTATCGTCGTCTGTCTTTT	0.577													A	73749123	G	A	73749123	3	1	27	1	0	0	0	0	1	0	0	0	14408	1145	40	1	1486	1	SLC16A2	23	73749123	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1315248	73749123	81521437	8578	32529											
RLIM	51132	broad.mit.edu	37	chrX	73812655	73812655	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgttttccacattttcTccactagaacgtcttgcaga	6	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:73812655T>C	uc004ebu.2	-	5	785	c.495A>G	c.(493-495)GGA>GGG	p.G165G	RLIM_uc004ebw.2_Silent_p.G165G	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	165					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						CCACATTTTCTCCACTAGAAC	0.403													C	73812655	T	C	73812655	2	2	27	1	0	0	0	0	0	0	0	1	13390	1538	54	3		3	RLIM	23	73812655	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	63532	73812655	81457905	8579	32530											
KIAA2022	340533	broad.mit.edu	37	chrX	73963610	73963610	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttcactaataaaagtctcgAagtaaccccaatcctgattg	5	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:73963610A>T	uc004eby.2	-	3	1399	c.782T>A	c.(781-783)TTC>TAC	p.F261Y		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	261					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						AAAAGTCTCGAAGTAACCCCA	0.398													T	73963610	A	T	73963610	3	4	27	1	0	0	0	0	1	0	0	0	8269	246	9	5	3776	5	KIAA2022	23	73963610	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	150955	73963610	81306950	8580	32531											
KIAA2022	340533	broad.mit.edu	37	chrX	73964288	73964288	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagagctgcaaatgacttcAttgccacatcctggtcctct	7	13	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:73964288A>G	uc004eby.2	-	3	721	c.104T>C	c.(103-105)ATG>ACG	p.M35T		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	35					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						AAATGACTTCATTGCCACATC	0.463													G	73964288	A	G	73964288	3	3	27	1	0	0	0	0	1	0	0	0	8269	217	8	3	4454	3	KIAA2022	23	73964288	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	678	73964288	81306272	8581	32532											
ABCB7	22	broad.mit.edu	37	chrX	74289248	74289248	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatcaaaggccacggtagcTgtctgtggtgtgatctgaag	13	7	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:74289248T>C	uc004eca.2	-	11	1432	c.1407A>G	c.(1405-1407)ACA>ACG	p.T469T	ABCB7_uc004ebz.2_Silent_p.T470T|ABCB7_uc011mqn.1_Silent_p.T443T|ABCB7_uc010nls.2_Silent_p.T430T|ABCB7_uc010nlt.2_Silent_p.T429T	NM_004299	NP_004290	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B, member 7	469					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			ovary(1)	1						CCACGGTAGCTGTCTGTGGTG	0.463													C	74289248	T	C	74289248	2	2	27	1	0	0	0	0	0	0	0	1	46	1567	55	3		3	ABCB7	23	74289248	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	324960	74289248	80981312	8582	32533											
UPRT	139596	broad.mit.edu	37	chrX	74523346	74523346	+	Nonstop_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaatactttggaacagactaAgttatttaagtaaaataatt	5	3	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:74523346A>T	uc004ecb.1	+	7	1059	c.930A>T	c.(928-930)TAA>TAT	p.*310Y	UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_3'UTR|UPRT_uc004ece.1_Nonstop_Mutation_p.*174Y	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog	310					nucleoside metabolic process	cytoplasm|nucleus					0						GAACAGACTAAGTTATTTAAG	0.303													T	74523346	A	T	74523346	4	4	27	1	0	0	0	0	0	0	0	0	17011	79	3	5	956	5	UPRT	23	74523346	Nonstop_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	234098	74523346	80747214	8583	32534											
CXorf26	51260	broad.mit.edu	37	chrX	75395397	75395397	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggaaaaattttgagaccctTaggatagatgtgttggaccc	11	7	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:75395397T>C	uc004ecl.1	+	4	449	c.246T>C	c.(244-246)CTT>CTC	p.L82L		NM_016500	NP_057584	Q9BVG4	CX026_HUMAN	hypothetical protein LOC51260	82											0						TTGAGACCCTTAGGATAGATG	0.373													C	75395397	T	C	75395397	2	2	27	1	0	0	0	0	0	0	0	1	4104	1741	61	3		3	CXorf26	23	75395397	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	872051	75395397	79875163	8584	32535											
MAGEE1	57692	broad.mit.edu	37	chrX	75648280	75648280	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctctgccagatcgcgggcCtgtcggtgtctgctcctaca	11	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:75648280C>A	uc004ecm.1	+	1	164	c.-43C>A	c.(-45--41)GCCTG>GCATG			NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1							dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						GATCGCGGGCCTGTCGGTGTC	0.517													A	75648280	C	A	75648280	1	1	27	1	0	0	0	0	0	0	0	0	9185	696	24	5		5	MAGEE1	23	75648280	Translation_Start_Site	SNP	C	TCGA-BR-6452-01A-12D-1800-08	252883	75648280	79622280	8585	32536											
MAGEE1	57692	broad.mit.edu	37	chrX	75649862	75649862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcaagtaccctatccgGgagtctgaaatgcgggaata	12	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:75649862G>A	uc004ecm.1	+	1	1746	c.1539G>A	c.(1537-1539)CGG>CGA	p.R513R		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	513	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						ACCCTATCCGGGAGTCTGAAA	0.493													A	75649862	G	A	75649862	2	1	27	1	0	0	0	0	0	0	0	1	9185	1219	43	4		4	MAGEE1	23	75649862	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1582	75649862	79620698	8586	32537											
MAGEE1	57692	broad.mit.edu	37	chrX	75650600	75650600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagttatttctgcttatGgattcaactaagctgcctat	8	8	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:75650600G>A	uc004ecm.1	+	1	2484	c.2277G>A	c.(2275-2277)ATG>ATA	p.M759I		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	759	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						TTCTGCTTATGGATTCAACTA	0.478													A	75650600	G	A	75650600	3	1	27	1	0	0	0	0	1	0	0	0	9185	1348	47	4	2279	4	MAGEE1	23	75650600	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	738	75650600	79619960	8587	32538											
MAGEE1	57692	broad.mit.edu	37	chrX	75650756	75650756	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgatcccaggaatcactcCtatactctgtacaaccgaag	6	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:75650756C>A	uc004ecm.1	+	1	2640	c.2433C>A	c.(2431-2433)TCC>TCA	p.S811S		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	811	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						GGAATCACTCCTATACTCTGT	0.498													A	75650756	C	A	75650756	2	1	27	1	0	0	0	0	0	0	0	1	9185	668	24	5		5	MAGEE1	23	75650756	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	156	75650756	79619804	8588	32539											
ATRX	546	broad.mit.edu	37	chrX	76829715	76829715	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacagaaaatttttcctacCtcacattagtttcatcatta	2	9	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:76829715C>A	uc004ecp.3	-	28	6558	c.6326G>T	c.(6325-6327)AGA>ATA	p.R2109I	ATRX_uc004ecq.3_Missense_Mutation_p.R2071I|ATRX_uc004eco.3_Missense_Mutation_p.R1894I	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	2109	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TTTTTCCTACCTCACATTAGT	0.289			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76829715	C	A	76829715	3	1	27	1	0	0	0	0	1	0	0	0	1208	695	24	5	1184	5	ATRX	23	76829715	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1178959	76829715	78440845	8589	32540											
ATRX	546	broad.mit.edu	37	chrX	76939627	76939628	+	Frame_Shift_Ins	INS	-	-	A													attatctgttgcctgctttaINSaaaatttaacataactggag							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:76939626_76939627T>TA	uc004ecp.4	-	8	1353_1354	c.1121_1122A>TA	c.(1120-1122)ttafs	p.L374fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.L336fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.L159fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.L335fs|ATRX_uc010nlx.1_Frame_Shift_Ins_p.L374fs|ATRX_uc010nly.1_Frame_Shift_Ins_p.L319fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	374					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTGCCTGCTTTAAAAATTTAAC	0.366			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76939628	-	A	76939627	7	5	27	1	0	1	1	0	0	0	0	0	1208	372	13	0	6465	0	ATRX	23	76939627	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	109912	76939627	78330933	8590	32541											
PGAM4	441531	broad.mit.edu	37	chrX	77224638	77224638	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaactatttcttcattccaGaagggcagagctctggcaat	10	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:77224638G>A	uc004ecy.1	-	1	498	c.498C>T	c.(496-498)TTC>TTT	p.F166F	ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.3_Intron	NM_001029891	NP_001025062	Q8N0Y7	PGAM4_HUMAN	bisphosphoglycerate mutase 4	166					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity				0						CTTCATTCCAGAAGGGCAGAG	0.517													A	77224638	G	A	77224638	2	1	27	1	0	0	0	0	0	0	0	1	11775	933	33	4		4	PGAM4	23	77224638	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	285011	77224638	78045922	8591	32542											
ATP7A	538	broad.mit.edu	37	chrX	77227165	77227165	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtatgggtgtgaattcTgttaccatttctgttgaggg	12	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:77227165T>C	uc004ecx.3	+	2	187	c.27T>C	c.(25-27)TCT>TCC	p.S9S	ATP7A_uc004ecw.2_Silent_p.S9S|PGAM4_uc004ecy.1_5'Flank	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	9	HMA 1.|Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						GTGTGAATTCTGTTACCATTT	0.363													C	77227165	T	C	77227165	2	2	27	1	0	0	0	0	0	0	0	1	1190	1567	55	3		3	ATP7A	23	77227165	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2527	77227165	78043395	8592	32543											
ATP7A	538	broad.mit.edu	37	chrX	77254041	77254041	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccgcttttgacttcaactaAtgaattttatactaaaggga	7	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:77254041A>T	uc004ecx.3	+	5	1563	c.1403A>T	c.(1402-1404)AAT>ATT	p.N468I	ATP7A_uc004ecw.2_Missense_Mutation_p.N468I	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	468	Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						ACTTCAACTAATGAATTTTAT	0.418													T	77254041	A	T	77254041	3	4	27	1	0	0	0	0	1	0	0	0	1190	101	4	5	1417	5	ATP7A	23	77254041	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	26876	77254041	78016519	8593	32544											
PGK1	5230	broad.mit.edu	37	chrX	77369604	77369604	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcatcctgctggagaacCtccgctttcatgtggaggaa	11	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:77369604C>A	uc004ecz.3	+	4	536	c.364C>A	c.(364-366)CTC>ATC	p.L122I	PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Missense_Mutation_p.L94I	NM_000291	NP_000282	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	122					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			upper_aerodigestive_tract(1)|ovary(1)	2						GCTGGAGAACCTCCGCTTTCA	0.522													A	77369604	C	A	77369604	3	1	27	1	0	0	0	0	1	0	0	0	11790	681	24	5	378	5	PGK1	23	77369604	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	115563	77369604	77900956	8594	32545											
TAF9B	51616	broad.mit.edu	37	chrX	77393267	77393267	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttaattaaggacttcagCctatagtttggagctgttaa	8	5	1	0	rs145287115		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:77393267C>T	uc004eda.2	-	4	455	c.384G>A	c.(382-384)AGG>AGA	p.R128R		NM_015975	NP_057059	Q9HBM6	TAF9B_HUMAN	transcription associated factor 9B	128					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding				0						AGGACTTCAGCCTATAGTTTG	0.378													T	77393267	C	T	77393267	2	4	27	1	0	0	0	0	0	0	0	1	15533	738	26	2		2	TAF9B	23	77393267	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	23663	77393267	77877293	8595	32546											
CYSLTR1	10800	broad.mit.edu	37	chrX	77528568	77528568	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatagcctttttatgacttgAcagattttttttcattgatt	5	5	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:77528568A>G	uc004edb.2	-	3	1076	c.676T>C	c.(676-678)TCA>CCA	p.S226P	CYSLTR1_uc010nma.2_Missense_Mutation_p.S226P|CYSLTR1_uc010nmb.2_Missense_Mutation_p.S226P	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	226	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			ovary(1)	1					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TTATGACTTGACAGATTTTTT	0.328													G	77528568	A	G	77528568	3	3	27	1	0	0	0	0	1	0	0	0	4201	275	10	3	341	3	CYSLTR1	23	77528568	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	135301	77528568	77741992	8596	32547											
P2RY10	27334	broad.mit.edu	37	chrX	78216180	78216180	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcttctggctaacagtgcaGccttgtgggttctgtgccgc	13	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:78216180G>T	uc004ede.2	+	4	532	c.163G>T	c.(163-165)GCC>TCC	p.A55S	P2RY10_uc004edf.2_Missense_Mutation_p.A55S	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	55	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5						TAACAGTGCAGCCTTGTGGGT	0.408													T	78216180	G	T	78216180	3	4	27	1	0	0	0	0	1	0	0	0	11347	971	34	5	165	5	P2RY10	23	78216180	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	687612	78216180	77054380	8597	32548											
TBX22	50945	broad.mit.edu	37	chrX	79278708	79278708	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaagattccatgacatcGggactgagatgatcattact	10	7	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:79278708G>T	uc010nmg.1	+	3	459	c.325G>T	c.(325-327)GGG>TGG	p.G109W	TBX22_uc004edi.1_5'UTR|TBX22_uc004edj.1_Missense_Mutation_p.G109W	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	109	T-box.				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						CCATGACATCGGGACTGAGAT	0.473													T	79278708	G	T	79278708	3	4	27	1	0	0	0	0	1	0	0	0	15655	1116	39	5	331	5	TBX22	23	79278708	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1062528	79278708	75991852	8598	32549											
BRWD3	254065	broad.mit.edu	37	chrX	79948491	79948491	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactctggttgaaaaggctGctgactctccacagtcccaa	8	12	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:79948491G>A	uc004edt.2	-	28	3474	c.3211C>T	c.(3211-3213)CAG>TAG	p.Q1071*	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Nonsense_Mutation_p.Q667*|BRWD3_uc004edp.2_Nonsense_Mutation_p.Q900*|BRWD3_uc004edq.2_Nonsense_Mutation_p.Q667*|BRWD3_uc010nmj.1_Nonsense_Mutation_p.Q667*|BRWD3_uc004edr.2_Nonsense_Mutation_p.Q741*|BRWD3_uc004eds.2_Nonsense_Mutation_p.Q667*|BRWD3_uc004edu.2_Nonsense_Mutation_p.Q741*|BRWD3_uc004edv.2_Nonsense_Mutation_p.Q667*|BRWD3_uc004edw.2_Nonsense_Mutation_p.Q667*|BRWD3_uc004edx.2_Nonsense_Mutation_p.Q667*|BRWD3_uc004edy.2_Nonsense_Mutation_p.Q667*|BRWD3_uc004edz.2_Nonsense_Mutation_p.Q741*|BRWD3_uc004eea.2_Nonsense_Mutation_p.Q741*|BRWD3_uc004eeb.2_Nonsense_Mutation_p.Q667*	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1071										ovary(4)	4						TGAAAAGGCTGCTGACTCTCC	0.368													A	79948491	G	A	79948491	4	1	27	1	0	0	0	0	0	1	0	0	1526	1328	46	2	2253	2	BRWD3	23	79948491	Nonsense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	669783	79948491	75322069	8599	32550											
BRWD3	254065	broad.mit.edu	37	chrX	79978164	79978164	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaggatttccatcaacAtccaccaaaaatggaggagg	11	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:79978164A>T	uc004edt.2	-	17	2036	c.1773T>A	c.(1771-1773)GAT>GAA	p.D591E	BRWD3_uc004edo.2_Missense_Mutation_p.D187E|BRWD3_uc004edp.2_Missense_Mutation_p.D420E|BRWD3_uc004edq.2_Missense_Mutation_p.D187E|BRWD3_uc010nmj.1_Missense_Mutation_p.D187E|BRWD3_uc004edr.2_Missense_Mutation_p.D261E|BRWD3_uc004eds.2_Missense_Mutation_p.D187E|BRWD3_uc004edu.2_Missense_Mutation_p.D261E|BRWD3_uc004edv.2_Missense_Mutation_p.D187E|BRWD3_uc004edw.2_Missense_Mutation_p.D187E|BRWD3_uc004edx.2_Missense_Mutation_p.D187E|BRWD3_uc004edy.2_Missense_Mutation_p.D187E|BRWD3_uc004edz.2_Missense_Mutation_p.D261E|BRWD3_uc004eea.2_Missense_Mutation_p.D261E|BRWD3_uc004eeb.2_Missense_Mutation_p.D187E	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	591										ovary(4)	4						TTCCATCAACATCCACCAAAA	0.438													T	79978164	A	T	79978164	3	4	27	1	0	0	0	0	1	0	0	0	1526	214	8	5	3735	5	BRWD3	23	79978164	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	29673	79978164	75292396	8600	32551											
RPS6KA6	27330	broad.mit.edu	37	chrX	83352817	83352817	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaggactcctaaactccAgatatcacaagcagcatcat	5	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:83352817A>G	uc004eej.1	-	19	1893	c.1816T>C	c.(1816-1818)TGG>CGG	p.W606R	RPS6KA6_uc011mqt.1_Missense_Mutation_p.W606R|RPS6KA6_uc011mqu.1_Missense_Mutation_p.W503R	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	606	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						CCTAAACTCCAGATATCACAA	0.318													G	83352817	A	G	83352817	3	3	27	1	0	0	0	0	1	0	0	0	13655	188	7	3	437	3	RPS6KA6	23	83352817	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	3374653	83352817	71917743	8601	32552											
RPS6KA6	27330	broad.mit.edu	37	chrX	83359656	83359656	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaggtaaacatatctaccatCatcaaagacctacaaaagaa	4	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:83359656C>A	uc004eej.1	-	17	1542	c.1465G>T	c.(1465-1467)GAT>TAT	p.D489Y	RPS6KA6_uc011mqt.1_Missense_Mutation_p.D489Y|RPS6KA6_uc011mqu.1_Missense_Mutation_p.D386Y	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	489	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						TATCTACCATCATCAAAGACC	0.269													A	83359656	C	A	83359656	3	1	27	1	0	0	0	0	1	0	0	0	13655	826	29	5	796	5	RPS6KA6	23	83359656	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	6839	83359656	71910904	8602	32553											
RPS6KA6	27330	broad.mit.edu	37	chrX	83372088	83372088	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaatctatttgctggattcCttttgaataacatccttaga	5	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:83372088C>A	uc004eej.1	-	11	1006	c.929G>T	c.(928-930)AGG>ATG	p.R310M	RPS6KA6_uc011mqt.1_Missense_Mutation_p.R310M|RPS6KA6_uc011mqu.1_Missense_Mutation_p.R207M	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	310	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						TGCTGGATTCCTTTTGAATAA	0.323													A	83372088	C	A	83372088	3	1	27	1	0	0	0	0	1	0	0	0	13655	681	24	5	1356	5	RPS6KA6	23	83372088	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	12432	83372088	71898472	8603	32554											
DACH2	117154	broad.mit.edu	37	chrX	86069720	86069721	+	Frame_Shift_Ins	INS	-	-	A													aaagcgcctgaagaaggagaINSaaaaaaccaagagaaaattg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:86069719_86069720G>GA	uc004eew.2	+	9	1736_1737	c.1566_1567G>GA	c.(1564-1569)gagaaafs	p.E522fs	DACH2_uc004eex.2_Frame_Shift_Ins_p.E509fs|DACH2_uc010nmq.2_Frame_Shift_Ins_p.E388fs|DACH2_uc011mra.1_Frame_Shift_Ins_p.E355fs|DACH2_uc010nmr.2_Frame_Shift_Ins_p.E303fs|DACH2_uc004eey.3_Frame_Shift_Ins_p.E215fs|DACH2_uc004eez.3_Frame_Shift_Ins_p.E205fs	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	522	DACHbox-C.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.E522D(2)|p.E509D(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TGAAGAAGGAGAAAAAAACCAA	0.431													A	86069721	-	A	86069720	7	5	27	1	0	1	1	0	0	0	0	0	4221	247	9	0	1605	0	DACH2	23	86069720	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	2697632	86069720	69200840	8604	32555											
NAP1L3	4675	broad.mit.edu	37	chrX	92928184	92928184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgtcactagtgctGctgctagagctactgctgtc	11	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:92928184G>A	uc004efq.2	-	1	425	c.120C>T	c.(118-120)AGC>AGT	p.S40S	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	40	Ser-rich.				nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2						cactagtgctgctgctagagc	0.234													A	92928184	G	A	92928184	2	1	27	1	0	0	0	0	0	0	0	1	10158	1310	46	2		2	NAP1L3	23	92928184	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	6858464	92928184	62342376	8605	32556											
PCDH19	57526	broad.mit.edu	37	chrX	99551344	99551344	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaccttccttcagaatgggGctgacctcatgcatgacttt	9	12	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:99551344G>A	uc010nmz.2	-	6	5054	c.3378C>T	c.(3376-3378)AGC>AGT	p.S1126S	PCDH19_uc004efw.3_Silent_p.S1078S|PCDH19_uc004efx.3_Silent_p.S1079S	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	1126	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						TCAGAATGGGGCTGACCTCAT	0.502													A	99551344	G	A	99551344	2	1	27	1	0	0	0	0	0	0	0	1	11514	1194	42	2		2	PCDH19	23	99551344	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	6623160	99551344	55719216	8606	32557											
PCDH19	57526	broad.mit.edu	37	chrX	99661923	99661923	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgatgaccggggtgttgTcgttgacgtcgaggatgatg	17	6	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:99661923T>C	uc010nmz.2	-	1	3349	c.1673A>G	c.(1672-1674)GAC>GGC	p.D558G	PCDH19_uc004efw.3_Missense_Mutation_p.D558G|PCDH19_uc004efx.3_Missense_Mutation_p.D558G	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	558	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						CGGGGTGTTGTCGTTGACGTC	0.582													C	99661923	T	C	99661923	3	2	27	1	0	0	0	0	1	0	0	0	11514	1667	58	3	1797	3	PCDH19	23	99661923	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	110579	99661923	55608637	8607	32558											
SYTL4	94121	broad.mit.edu	37	chrX	99942073	99942073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcactcacgggttagagCgcttcttggcttcatcagca	11	11	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:99942073C>T	uc004egd.3	-	13	1531	c.1175G>A	c.(1174-1176)CGC>CAC	p.R392H	SYTL4_uc010nnb.2_Missense_Mutation_p.R64H|SYTL4_uc010nnc.2_Missense_Mutation_p.R392H|SYTL4_uc004ege.3_Missense_Mutation_p.R392H|SYTL4_uc004egf.3_Missense_Mutation_p.R392H|SYTL4_uc004egg.3_3'UTR	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	392	C2 1.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			ovary(2)	2					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGGGTTAGAGCGCTTCTTGGC	0.527													T	99942073	C	T	99942073	3	4	27	1	0	0	0	0	1	0	0	0	15482	768	27	1	868	1	SYTL4	23	99942073	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	280150	99942073	55328487	8608	32559											
NOX1	27035	broad.mit.edu	37	chrX	100104913	100104913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctgtgccaaagggaccatCcacttcaatcctggcagaag	11	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:100104913C>T	uc004egj.2	-	10	1350	c.1144G>A	c.(1144-1146)GAT>AAT	p.D382N	NOX1_uc004egl.3_Missense_Mutation_p.D382N|NOX1_uc010nne.2_Missense_Mutation_p.D345N	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1 isoform long	382	FAD-binding FR-type.|Extracellular (Potential).				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			ovary(1)	1						AAGGGACCATCCACTTCAATC	0.498													T	100104913	C	T	100104913	3	4	27	1	0	0	0	0	1	0	0	0	10556	855	30	4	566	4	NOX1	23	100104913	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	162840	100104913	55165647	8609	32560											
XKRX	402415	broad.mit.edu	37	chrX	100169342	100169342	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaatcagacaacactttgCcttgcttcagtctcaaaggg	8	10	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:100169342C>T	uc004egn.2	-	3	1940	c.1335G>A	c.(1333-1335)AGG>AGA	p.R445R	XKRX_uc011mre.1_Silent_p.R241R	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	445						integral to membrane|plasma membrane				breast(1)	1						CAACACTTTGCCTTGCTTCAG	0.463													T	100169342	C	T	100169342	2	4	27	1	0	0	0	0	0	0	0	1	17436	738	26	2		2	XKRX	23	100169342	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	64429	100169342	55101218	8610	32561											
XKRX	402415	broad.mit.edu	37	chrX	100177865	100177865	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcccaggaaggcttggAtctgtgacatacgtttgtag	13	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:100177865A>T	uc004egn.2	-	2	1126	c.521T>A	c.(520-522)ATC>AAC	p.I174N	XKRX_uc011mre.1_Intron	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	174	Helical; (Potential).					integral to membrane|plasma membrane				breast(1)	1						GAAGGCTTGGATCTGTGACAT	0.567													T	100177865	A	T	100177865	3	4	27	1	0	0	0	0	1	0	0	0	17436	333	12	5	836	5	XKRX	23	100177865	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	8523	100177865	55092695	8611	32562											
TRMT2B	79979	broad.mit.edu	37	chrX	100292924	100292924	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagagggtataataggatgGagaagacaagagagcctctc	13	6	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:100292924G>A	uc004egq.2	-	4	719	c.420C>T	c.(418-420)CTC>CTT	p.L140L	TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Silent_p.L140L|TRMT2B_uc004egs.2_Silent_p.L140L|TRMT2B_uc004egt.2_Silent_p.L140L|TRMT2B_uc004egu.2_Silent_p.L21L|TRMT2B_uc004egv.2_Intron	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN	TRM2 tRNA methyltransferase 2 homolog B	140							tRNA (uracil-5-)-methyltransferase activity			ovary(1)	1						TAATAGGATGGAGAAGACAAG	0.358													A	100292924	G	A	100292924	2	1	27	1	0	0	0	0	0	0	0	1	16563	1161	41	4		4	TRMT2B	23	100292924	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	115059	100292924	54977636	8612	32563											
TMEM35	59353	broad.mit.edu	37	chrX	100334082	100334082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggactatcaagctgacccccAggctcagcaaggatgcctac	10	14	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:100334082A>G	uc004egw.2	+	1	247	c.91A>G	c.(91-93)AGG>GGG	p.R31G		NM_021637	NP_067650	Q53FP2	TMM35_HUMAN	transmembrane protein 35	31						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane					0						GCTGACCCCCAGGCTCAGCAA	0.552													G	100334082	A	G	100334082	3	3	27	1	0	0	0	0	1	0	0	0	16154	179	7	3	93	3	TMEM35	23	100334082	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	41158	100334082	54936478	8613	32564											
TMEM35	59353	broad.mit.edu	37	chrX	100349662	100349662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattggtgcccttgaagtggCctgtggcatcgtcatgaccc	12	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:100349662C>T	uc004egw.2	+	2	377	c.221C>T	c.(220-222)GCC>GTC	p.A74V		NM_021637	NP_067650	Q53FP2	TMM35_HUMAN	transmembrane protein 35	74	Helical; (Potential).					cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane					0						CTTGAAGTGGCCTGTGGCATC	0.522													T	100349662	C	T	100349662	3	4	27	1	0	0	0	0	1	0	0	0	16154	739	26	2	227	2	TMEM35	23	100349662	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	15580	100349662	54920898	8614	32565											
TMEM35	59353	broad.mit.edu	37	chrX	100349842	100349842	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctgctgattgctcgcaAgcccgaagaccggtcttctg	11	15	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:100349842A>G	uc004egw.2	+	2	557	c.401A>G	c.(400-402)AAG>AGG	p.K134R		NM_021637	NP_067650	Q53FP2	TMM35_HUMAN	transmembrane protein 35	134						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane					0						ATTGCTCGCAAGCCCGAAGAC	0.557													G	100349842	A	G	100349842	3	3	27	1	0	0	0	0	1	0	0	0	16154	72	3	3	407	3	TMEM35	23	100349842	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	180	100349842	54920718	8615	32566											
CENPI	2491	broad.mit.edu	37	chrX	100387224	100387224	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctgtataagagccttcctCtctgggatggcctttgttgt	10	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:100387224C>T	uc004egx.2	+	13	1603	c.1333C>T	c.(1333-1335)CTC>TTC	p.L445F	CENPI_uc011mrg.1_Missense_Mutation_p.L445F|CENPI_uc004egy.2_Missense_Mutation_p.L445F	NM_006733	NP_006724	Q92674	CENPI_HUMAN	centromere protein I	445					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			skin(1)	1						GAGCCTTCCTCTCTGGGATGG	0.398													T	100387224	C	T	100387224	3	4	27	1	0	0	0	0	1	0	0	0	3233	913	32	4	1379	4	CENPI	23	100387224	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	37382	100387224	54883336	8616	32567											
DRP2	1821	broad.mit.edu	37	chrX	100515554	100515554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggagaaactccgtcatGccttccccagtgtgcgaagt	10	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:100515554G>A	uc004egz.2	+	24	3187	c.2818G>A	c.(2818-2820)GCC>ACC	p.A940T	DRP2_uc011mrh.1_Missense_Mutation_p.A862T	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	940					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						ACTCCGTCATGCCTTCCCCAG	0.502													A	100515554	G	A	100515554	3	1	27	1	0	0	0	0	1	0	0	0	4764	1319	46	2	2904	2	DRP2	23	100515554	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	128330	100515554	54755006	8617	32568											
BTK	695	broad.mit.edu	37	chrX	100608210	100608210	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaactgtacatgatggtaTataccttctctgaagccaga	8	9	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:100608210T>C	uc004ehg.2	-	18	2073	c.1880A>G	c.(1879-1881)TAT>TGT	p.Y627C	BTK_uc004ehf.2_Missense_Mutation_p.Y127C|BTK_uc010nnh.2_RNA|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_RNA|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_RNA|BTK_uc010nnl.2_Missense_Mutation_p.Y103C|BTK_uc010nnm.2_Intron|BTK_uc010nnn.2_Missense_Mutation_p.Y451C|BTK_uc010nno.2_Missense_Mutation_p.Y661C	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	627	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			lung(3)|central_nervous_system(2)|ovary(1)	6						CATGATGGTATATACCTTCTC	0.438									Agammaglobulinemia_X-linked				C	100608210	T	C	100608210	3	2	27	1	0	0	0	0	1	0	0	0	1557	1406	49	3	107	3	BTK	23	100608210	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	92656	100608210	54662350	8618	32569											
ARMCX1	51309	broad.mit.edu	37	chrX	100808785	100808785	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagacgtacatcagtcaagTgtgtgatgacaccatggtct	10	8	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:100808785T>C	uc004ehv.2	+	4	1243	c.872T>C	c.(871-873)GTG>GCG	p.V291A	ARMCX1_uc004ehw.2_Missense_Mutation_p.V291A	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	291						integral to membrane	binding			ovary(3)|pancreas(1)	4						ATCAGTCAAGTGTGTGATGAC	0.428													C	100808785	T	C	100808785	3	2	27	1	0	0	0	0	1	0	0	0	959	1696	59	3	874	3	ARMCX1	23	100808785	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	200575	100808785	54461775	8619	32570											
NXF5	55998	broad.mit.edu	37	chrX	101095513	101095513	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtgctgcacaacgggTtcccttctagccatagctct	10	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:101095513T>C	uc011mrk.1	-	10	1016	c.656A>G	c.(655-657)AAC>AGC	p.N219S	NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	219	LRR 3.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			central_nervous_system(1)	1						GCACAACGGGTTCCCTTCTAG	0.572													C	101095513	T	C	101095513	3	2	27	1	0	0	0	0	1	0	0	0	10786	1725	60	3	469	3	NXF5	23	101095513	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	286728	101095513	54175047	8620	32571											
ZMAT1	84460	broad.mit.edu	37	chrX	101152909	101152909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaattgcttcagttttttaGcatggacctttcccacatag	6	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:101152909G>A	uc011mrl.1	-	5	748	c.437C>T	c.(436-438)GCT>GTT	p.A146V	ZMAT1_uc004ein.2_5'UTR|ZMAT1_uc011mrm.1_5'UTR	NM_001011657	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						nucleus	zinc ion binding			ovary(1)	1						CAGTTTTTTAGCATGGACCTT	0.408													A	101152909	G	A	101152909	3	1	27	1	0	0	0	0	1	0	0	0	17688	971	34	2	1491	2	ZMAT1	23	101152909	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	57396	101152909	54117651	8621	32572											
TCEAL2	140597	broad.mit.edu	37	chrX	101382346	101382346	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctagggtggaggataaaaggAgaaaaagcaaacagaaattg	13	3	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:101382346A>T	uc004eip.2	+	3	763	c.544A>T	c.(544-546)AGA>TGA	p.R182*		NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						GGATAAAAGGAGAAAAAGCAA	0.433													T	101382346	A	T	101382346	4	4	27	1	0	0	0	0	0	1	0	0	15668	296	11	5	546	5	TCEAL2	23	101382346	Nonsense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	229437	101382346	53888214	8622	32573											
GPRASP1	9737	broad.mit.edu	37	chrX	101910641	101910641	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtagggctgaaactagctgTgacaccatgcaaggggctga	14	8	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:101910641T>C	uc004ejj.3	+	5	2601	c.1800T>C	c.(1798-1800)TGT>TGC	p.C600C	GPRASP1_uc004eji.3_Silent_p.C600C|GPRASP1_uc010nod.2_Silent_p.C600C	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	600	Glu-rich.					cytoplasm	protein binding			ovary(1)|lung(1)	2						AAACTAGCTGTGACACCATGC	0.512													C	101910641	T	C	101910641	2	2	27	1	0	0	0	0	0	0	0	1	6722	1702	59	3		3	GPRASP1	23	101910641	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	528295	101910641	53359919	8623	32574											
GPRASP2	114928	broad.mit.edu	37	chrX	101971192	101971192	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctgctttgacctaaatccCtgtcctgtgtacaaggtcag	9	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:101971192C>A	uc004ejk.2	+	4	2729	c.1395C>A	c.(1393-1395)CCC>CCA	p.P465P	GPRASP2_uc004ejl.2_Silent_p.P465P|GPRASP2_uc004ejm.2_Silent_p.P465P|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	465						cytoplasm	protein binding			ovary(1)	1						ACCTAAATCCCTGTCCTGTGT	0.537													A	101971192	C	A	101971192	2	1	27	1	0	0	0	0	0	0	0	1	6723	668	24	5		5	GPRASP2	23	101971192	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	60551	101971192	53299368	8624	32575											
BEX1	55859	broad.mit.edu	37	chrX	102318123	102318123	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agggctcccctttattagcaActtgctccttttcttcattt	5	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:102318123A>T	uc004ejt.1	-	3	320	c.80T>A	c.(79-81)GTT>GAT	p.V27D		NM_018476	NP_060946	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	27					cell differentiation|nervous system development	cytoplasm|nucleus				ovary(1)	1						TTTATTAGCAACTTGCTCCTT	0.488													T	102318123	A	T	102318123	3	4	27	1	0	0	0	0	1	0	0	0	1410	43	2	5	301	5	BEX1	23	102318123	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	346931	102318123	52952437	8625	32576											
NXF3	56000	broad.mit.edu	37	chrX	102337215	102337215	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtatccgagaaggtcgtGcacactgggcttctgtccgc	14	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:102337215G>A	uc004eju.2	-	9	929	c.858C>T	c.(856-858)TGC>TGT	p.C286C	NXF3_uc010noi.1_Silent_p.C136C|NXF3_uc011mrw.1_Silent_p.C286C|NXF3_uc011mrx.1_Silent_p.C197C	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	286						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3						AGAAGGTCGTGCACACTGGGC	0.537													A	102337215	G	A	102337215	2	1	27	1	0	0	0	0	0	0	0	1	10785	1311	46	2		2	NXF3	23	102337215	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	19092	102337215	52933345	8626	32577											
TCEAL4	79921	broad.mit.edu	37	chrX	102842091	102842091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagaatttgacaatatggCtaaggtgcaggatgagaaga	13	3	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:102842091C>T	uc004ekl.2	+	3	781	c.488C>T	c.(487-489)GCT>GTT	p.A163V	TCEAL4_uc004ekn.2_Missense_Mutation_p.A163V|TCEAL4_uc004ekm.2_Missense_Mutation_p.A163V|TCEAL4_uc004eko.2_Missense_Mutation_p.A163V	NM_024863	NP_079139	Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						GACAATATGGCTAAGGTGCAG	0.418													T	102842091	C	T	102842091	3	4	27	1	0	0	0	0	1	0	0	0	15670	797	28	2	490	2	TCEAL4	23	102842091	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	504876	102842091	52428469	8627	32578											
RAB9B	51209	broad.mit.edu	37	chrX	103080451	103080451	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctctgccgatcatccacGctgaaggtcaagaggcagca	11	12	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:103080451G>A	uc004ell.1	-	3	549	c.264C>T	c.(262-264)AGC>AGT	p.S88S	RAB9B_uc004eli.1_Intron	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	88					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			lung(3)	3						GATCATCCACGCTGAAGGTCA	0.502													A	103080451	G	A	103080451	2	1	27	1	0	0	0	0	0	0	0	1	12959	1078	38	1		1	RAB9B	23	103080451	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	238360	103080451	52190109	8628	32579											
ESX1	80712	broad.mit.edu	37	chrX	103499107	103499107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgctccggctcgtggccGccgccaccctcacggtcttg	12	17	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:103499107G>A	uc004ely.2	-	2	292	c.234C>T	c.(232-234)GGC>GGT	p.G78G		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	extraembryonic, spermatogenesis, homeobox	78					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCTCGTGGCCGCCGCCACCCT	0.642													A	103499107	G	A	103499107	2	1	27	1	0	0	0	0	0	0	0	1	5263	1074	38	1		1	ESX1	23	103499107	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	418656	103499107	51771453	8629	32580											
SERPINA7	6906	broad.mit.edu	37	chrX	105279292	105279292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccatctggtgcatcatgGgcacttgaacagtggtggtc	13	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:105279292G>A	uc004eme.1	-	2	723	c.707C>T	c.(706-708)CCC>CTC	p.P236L	SERPINA7_uc010npd.2_Missense_Mutation_p.P236L|SERPINA7_uc010npe.1_Missense_Mutation_p.P236L	NM_000354	NP_000345	P05543	THBG_HUMAN	serine (or cysteine) proteinase inhibitor, clade	236					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity				0					Levothyroxine(DB00451)|Liothyronine(DB00279)	GTGCATCATGGGCACTTGAAC	0.428													A	105279292	G	A	105279292	3	1	27	1	0	0	0	0	1	0	0	0	14094	1232	43	4	552	4	SERPINA7	23	105279292	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1780185	105279292	49991268	8630	32581											
CXorf57	55086	broad.mit.edu	37	chrX	105875884	105875884	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaatcttcgagatcccccaAcaaatataattatcattcca	3	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:105875884A>G	uc004emi.3	+	4	1160	c.1009A>G	c.(1009-1011)ACA>GCA	p.T337A	CXorf57_uc004emj.3_Missense_Mutation_p.T337A|CXorf57_uc004emh.2_Missense_Mutation_p.T337A	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	hypothetical protein LOC55086	337										ovary(1)|lung(1)|breast(1)	3						AGATCCCCCAACAAATATAAT	0.264													G	105875884	A	G	105875884	3	3	27	1	0	0	0	0	1	0	0	0	4113	43	2	3	1023	3	CXorf57	23	105875884	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	596592	105875884	49394676	8631	32582											
RNF128	79589	broad.mit.edu	37	chrX	106028294	106028294	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgctgtttttttttttacaGaggcaattaaaggcagatgc	9	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:106028294G>A	uc004eml.2	+	3	983	c.733_splice	c.e3-1	p.R245_splice	RNF128_uc004emk.2_Splice_Site_p.R219_splice	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	ring finger protein 128 isoform 1							endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			ovary(1)|central_nervous_system(1)	2						TTTTTTTACAGAGGCAATTAA	0.303													A	106028294	G	A	106028294	5	1	27	1	0	0	0	0	0	0	1	0	13436	956	33	4	1152	4	RNF128	23	106028294	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	152410	106028294	49242266	8632	32583											
MORC4	79710	broad.mit.edu	37	chrX	106185904	106185904	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaatggctgcagcagggatTgcagcagaggccacagaata	13	10	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:106185904T>C	uc004emu.3	-	15	2460	c.2217A>G	c.(2215-2217)GCA>GCG	p.A739A	MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Silent_p.A739A|MORC4_uc004emw.3_Silent_p.A487A	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	739							ATP binding|zinc ion binding			ovary(1)	1						CAGCAGGGATTGCAGCAGAGG	0.493													C	106185904	T	C	106185904	2	2	27	1	0	0	0	0	0	0	0	1	9704	1799	63	3		3	MORC4	23	106185904	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	157610	106185904	49084656	8633	32584											
RBM41	55285	broad.mit.edu	37	chrX	106331799	106331799	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcttcttaggcccagtcCaacactgctcaggtgaaaaa	8	12	3	1	rs149164060		TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:106331799C>T	uc004emz.2	-	5	825	c.794G>A	c.(793-795)TGG>TAG	p.W265*	RBM41_uc004emy.1_Nonsense_Mutation_p.W265*	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	265							nucleotide binding|RNA binding			ovary(1)	1						AGGCCCAGTCCAACACTGCTC	0.463													T	106331799	C	T	106331799	4	4	27	1	0	0	0	0	0	1	0	0	13135	595	21	4	468	4	RBM41	23	106331799	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	145895	106331799	48938761	8634	32585											
VSIG1	340547	broad.mit.edu	37	chrX	107288361	107288361	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctcaactaacctccacacaAtggtgttcgcattttggaag	7	11	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:107288361A>T	uc004eno.2	+	1	162	c.1A>T	c.(1-3)ATG>TTG	p.M1L	VSIG1_uc011msk.1_Missense_Mutation_p.M1L	NM_182607	NP_872413	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	1						integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						CCTCCACACAATGGTGTTCGC	0.473													T	107288361	A	T	107288361	3	4	27	1	0	0	0	0	1	0	0	0	17219	101	4	5	3	5	VSIG1	23	107288361	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	956562	107288361	47982199	8635	32586											
ATG4A	115201	broad.mit.edu	37	chrX	107395055	107395055	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttctgcaaagaagaaaaAgactttgataactggtgtag	9	4	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:107395055A>C	uc004enr.2	+	11	1107	c.984A>C	c.(982-984)AAA>AAC	p.K328N	ATG4A_uc004ent.2_Missense_Mutation_p.K266N|ATG4A_uc004ens.2_Missense_Mutation_p.K244N|ATG4A_uc011msl.1_Missense_Mutation_p.K182N|ATG4A_uc010npi.2_RNA|ATG4A_uc004enu.2_Missense_Mutation_p.K244N|COL4A6_uc011msm.1_Intron	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN	autophagy-related cysteine endopeptidase 2	328					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			pancreas(1)	1						AAGAAGAAAAAGACTTTGATA	0.358													C	107395055	A	C	107395055	3	2	27	1	0	0	0	0	1	0	0	0	1096	69	3	5	1026	5	ATG4A	23	107395055	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	106694	107395055	47875505	8636	32587											
COL4A6	1288	broad.mit.edu	37	chrX	107457431	107457431	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccatccagaccaggtgggcCtctggggcctggttgtccag	15	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:107457431C>A	uc004enw.3	-	6	458	c.355G>T	c.(355-357)GGC>TGC	p.G119C	COL4A6_uc004env.3_Missense_Mutation_p.G118C|COL4A6_uc011msn.1_Missense_Mutation_p.G118C|COL4A6_uc010npk.2_Missense_Mutation_p.G118C	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	119	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						CCAGGTGGGCCTCTGGGGCCT	0.547									Alport_syndrome_with_Diffuse_Leiomyomatosis				A	107457431	C	A	107457431	3	1	27	1	0	0	0	0	1	0	0	0	3695	681	24	5	4880	5	COL4A6	23	107457431	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	62376	107457431	47813129	8637	32588											
COL4A5	1287	broad.mit.edu	37	chrX	107866021	107866021	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggatccaaatcttctgggCtcaaaaggagagaaggggga	14	6	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:107866021C>A	uc004enz.1	+	33	3085	c.2883C>A	c.(2881-2883)GGC>GGA	p.G961G	COL4A5_uc011mso.1_Silent_p.G961G|COL4A5_uc004eob.1_Silent_p.G569G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	961	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						ATCTTCTGGGCTCAAAAGGAG	0.443									Alport_syndrome_with_Diffuse_Leiomyomatosis				A	107866021	C	A	107866021	2	1	27	1	0	0	0	0	0	0	0	1	3694	784	28	5		5	COL4A5	23	107866021	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	408590	107866021	47404539	8638	32589											
COL4A5	1287	broad.mit.edu	37	chrX	107935981	107935981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccaaatctttctagggaCggctggcagctgccttcgtc	10	13	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:107935981C>T	uc004enz.1	+	49	4734	c.4532C>T	c.(4531-4533)ACG>ATG	p.T1511M	COL4A5_uc011mso.1_Missense_Mutation_p.T1508M|COL4A5_uc011msp.1_Missense_Mutation_p.T187M	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1505	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						TTTCTAGGGACGGCTGGCAGC	0.403									Alport_syndrome_with_Diffuse_Leiomyomatosis				T	107935981	C	T	107935981	3	4	27	1	0	0	0	0	1	0	0	0	3694	536	19	1	4715	1	COL4A5	23	107935981	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	69960	107935981	47334579	8639	32590											
IRS4	8471	broad.mit.edu	37	chrX	107979097	107979097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcggtaccttgcatctgCtcgctggctcacggaaaagc	12	12	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:107979097C>T	uc004eoc.2	-	1	511	c.478G>A	c.(478-480)GCA>ACA	p.A160T		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	160	PH.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CTTGCATCTGCTCGCTGGCTC	0.617													T	107979097	C	T	107979097	3	4	27	1	0	0	0	0	1	0	0	0	7842	797	28	2	3299	2	IRS4	23	107979097	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	43116	107979097	47291463	8640	32591											
ACSL4	2182	broad.mit.edu	37	chrX	108924228	108924228	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttactgctttacttacaGttttctgggttagatcccaa	6	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:108924228G>A	uc004eoi.2	-	7	1282	c.777C>T	c.(775-777)AAC>AAT	p.N259N	ACSL4_uc004eoj.2_Silent_p.N218N|ACSL4_uc004eok.2_Silent_p.N218N|ACSL4_uc010npp.1_Silent_p.N259N	NM_022977	NP_075266	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	259	Cytoplasmic (Potential).				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(1)|lung(1)|ovary(1)	3					Icosapent(DB00159)|Troglitazone(DB00197)	TTTACTTACAGTTTTCTGGGT	0.343													A	108924228	G	A	108924228	2	1	27	1	0	0	0	0	0	0	0	1	179	1043	36	4		4	ACSL4	23	108924228	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	945131	108924228	46346332	8641	32592											
RGAG1	57529	broad.mit.edu	37	chrX	109696605	109696605	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaaggagaccctcagcctgTgagactgtgtccacagagtt	11	11	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:109696605T>C	uc004eor.1	+	3	3006	c.2760T>C	c.(2758-2760)TGT>TGC	p.C920C	RGAG1_uc011msr.1_Silent_p.C920C	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	920										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						CCTCAGCCTGTGAGACTGTGT	0.537													C	109696605	T	C	109696605	2	2	27	1	0	0	0	0	0	0	0	1	13274	1702	59	3		3	RGAG1	23	109696605	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	772377	109696605	45573955	8642	32593											
CHRDL1	91851	broad.mit.edu	37	chrX	109937471	109937471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaatccataagagctcccCggtgacttctggccccagga	12	13	1	2	rs141240795	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:109937471C>T	uc004eou.3	-	8	1047	c.698G>A	c.(697-699)CGG>CAG	p.R233Q	CHRDL1_uc004eov.2_Missense_Mutation_p.R227Q|CHRDL1_uc004eow.2_Missense_Mutation_p.R232Q|CHRDL1_uc010nps.2_Missense_Mutation_p.R232Q|CHRDL1_uc004eot.2_Missense_Mutation_p.R153Q|CHRDL1_uc011mss.1_Missense_Mutation_p.R147Q	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	226					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0						AAGAGCTCCCCGGTGACTTCT	0.493													T	109937471	C	T	109937471	3	4	27	1	0	0	0	0	1	0	0	0	3373	652	23	1	698	1	CHRDL1	23	109937471	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	240866	109937471	45333089	8643	32594											
ALG13	79868	broad.mit.edu	37	chrX	110925502	110925502	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaagacattcagaaagcagAtcttgttattagtcacgcag	9	7	3	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:110925502A>T	uc011msy.1	+	2	258	c.224A>T	c.(223-225)GAT>GTT	p.D75V	ALG13_uc004epi.1_Missense_Mutation_p.D75V|ALG13_uc011msw.1_Intron|ALG13_uc011msx.1_5'UTR|ALG13_uc011msz.1_Intron|ALG13_uc011mta.1_5'UTR|ALG13_uc011mtb.1_5'UTR			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	75					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1						CAGAAAGCAGATCTTGTTATT	0.343													T	110925502	A	T	110925502	3	4	27	1	0	0	0	0	1	0	0	0	515	333	12	5	230	5	ALG13	23	110925502	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	988031	110925502	44345058	8644	32595											
TRPC5	7224	broad.mit.edu	37	chrX	111019870	111019870	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattccatcagaaattgtgtAcattggctctgaactgggtt	9	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:111019870A>G	uc004epl.1	-	11	3512	c.2593T>C	c.(2593-2595)TAC>CAC	p.Y865H		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	865	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						GAAATTGTGTACATTGGCTCT	0.438													G	111019870	A	G	111019870	3	3	27	1	0	0	0	0	1	0	0	0	16579	391	14	3	332	3	TRPC5	23	111019870	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	94368	111019870	44250690	8645	32596											
TRPC5	7224	broad.mit.edu	37	chrX	111195483	111195483	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttaacattatagtagatctCagcctcctgaagggcctgct	9	10	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:111195483C>T	uc004epl.1	-	2	1085	c.166G>A	c.(166-168)GAG>AAG	p.E56K	TRPC5_uc004epm.1_Missense_Mutation_p.E56K	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	56	Cytoplasmic (Potential).|ANK 1.				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						TAGTAGATCTCAGCCTCCTGA	0.537													T	111195483	C	T	111195483	3	4	27	1	0	0	0	0	1	0	0	0	16579	835	29	4	2795	4	TRPC5	23	111195483	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	175613	111195483	44075077	8646	32597											
LHFPL1	340596	broad.mit.edu	37	chrX	111914414	111914414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcattgaagctggcatagcGcccacattcttccaccatga	9	13	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:111914414G>A	uc004epq.2	-	2	538	c.205C>T	c.(205-207)CGC>TGC	p.R69C	LHFPL1_uc004epp.2_Missense_Mutation_p.R92C|LHFPL1_uc010nqa.2_Intron|LHFPL1_uc010nqb.2_Missense_Mutation_p.R69C	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1 precursor	69						integral to membrane					0						CTGGCATAGCGCCCACATTCT	0.592													A	111914414	G	A	111914414	3	1	27	1	0	0	0	0	1	0	0	0	8764	1087	38	1	469	1	LHFPL1	23	111914414	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	718931	111914414	43356146	8647	32598											
AMOT	154796	broad.mit.edu	37	chrX	112035138	112035138	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgctcacgtttttcacaTgctgcctggagctgtacaag	10	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:112035138T>C	uc004epr.2	-	6	1848	c.1848A>G	c.(1846-1848)GCA>GCG	p.A616A	AMOT_uc004eps.2_Silent_p.A207A	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	616	Potential.				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						GTTTTTCACATGCTGCCTGGA	0.498													C	112035138	T	C	112035138	2	2	27	1	0	0	0	0	0	0	0	1	582	1451	51	3		3	AMOT	23	112035138	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	120724	112035138	43235422	8648	32599											
PLS3	5358	broad.mit.edu	37	chrX	114880488	114880488	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacctccatacccgaaactGggagccaacatgaaaaaggt	8	11	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:114880488G>A	uc004eqd.2	+	12	1749	c.1359G>A	c.(1357-1359)CTG>CTA	p.L453L	PLS3_uc010nqg.2_Silent_p.L235L|PLS3_uc011mtf.1_Silent_p.L440L|PLS3_uc004eqe.2_Silent_p.L453L|PLS3_uc011mtg.1_Silent_p.L426L|PLS3_uc011mth.1_Silent_p.L408L|PLS3_uc011mti.1_Silent_p.L129L|PLS3_uc011mtj.1_Silent_p.L47L|PLS3_uc011mtk.1_Silent_p.L114L|PLS3_uc011mtl.1_RNA	NM_005032	NP_005023	P13797	PLST_HUMAN	plastin 3	453	Actin-binding 2.|CH 3.					cytoplasm	actin binding|calcium ion binding			lung(1)|breast(1)	2						ACCCGAAACTGGGAGCCAACA	0.318													A	114880488	G	A	114880488	2	1	27	1	0	0	0	0	0	0	0	1	12108	1335	47	4		4	PLS3	23	114880488	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2845350	114880488	40390072	8649	32600											
AGTR2	186	broad.mit.edu	37	chrX	115304235	115304235	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaacatgctattttggaatTagaaaacacttactgaagac	7	7	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:115304235T>C	uc004eqh.3	+	3	909	c.702T>C	c.(700-702)ATT>ATC	p.I234I		NM_000686	NP_000677	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	234	Helical; Name=5; (Potential).				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			ovary(2)|lung(1)	3						ATTTTGGAATTAGAAAACACT	0.393													C	115304235	T	C	115304235	2	2	27	1	0	0	0	0	0	0	0	1	402	1742	61	3		3	AGTR2	23	115304235	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	423747	115304235	39966325	8650	32601											
CXorf61	203413	broad.mit.edu	37	chrX	115592931	115592931	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggatttccggtgaggtgAtgcacctctgaaacccttgc	13	10	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:115592931A>G	uc004eqj.1	-	2	439	c.319T>C	c.(319-321)TCA>CCA	p.S107P		NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	107	Extracellular (Potential).					integral to membrane|plasma membrane					0						CGGTGAGGTGATGCACCTCTG	0.413													G	115592931	A	G	115592931	3	3	27	1	0	0	0	0	1	0	0	0	4116	333	12	3	26	3	CXorf61	23	115592931	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	288696	115592931	39677629	8651	32602											
WDR44	54521	broad.mit.edu	37	chrX	117528054	117528054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgtctgattctctcctaaCcgcaagcatggcttcagaaa	7	12	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:117528054C>T	uc004eqn.2	+	5	1288	c.863C>T	c.(862-864)ACC>ATC	p.T288I	WDR44_uc004eqo.2_Missense_Mutation_p.T288I|WDR44_uc011mtr.1_Missense_Mutation_p.T263I|WDR44_uc010nqi.2_5'UTR	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	288						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						TCTCTCCTAACCGCAAGCATG	0.353													T	117528054	C	T	117528054	3	4	27	1	0	0	0	0	1	0	0	0	17293	507	18	4	881	4	WDR44	23	117528054	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1935123	117528054	37742506	8652	32603											
DOCK11	139818	broad.mit.edu	37	chrX	117695459	117695459	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggttgcatctacttggaCgcctgcattgatgttgttca	10	8	2	1	rs112113377	by1000genomes	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:117695459C>T	uc004eqp.2	+	7	735	c.672C>T	c.(670-672)GAC>GAT	p.D224D	DOCK11_uc004eqq.2_Translation_Start_Site	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	224	PH.				blood coagulation	cytosol	GTP binding			ovary(3)	3						TCTACTTGGACGCCTGCATTG	0.343													T	117695459	C	T	117695459	2	4	27	1	0	0	0	0	0	0	0	1	4686	535	19	1		1	DOCK11	23	117695459	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	167405	117695459	37575101	8653	32604											
DOCK11	139818	broad.mit.edu	37	chrX	117742033	117742033	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcttgtgaatgtcgtttcAgggttctcttacatattgta	8	7	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:117742033A>G	uc004eqp.2	+	25	2745	c.2682_splice	c.e25-2	p.M894_splice	DOCK11_uc004eqq.2_Splice_Site_p.M660_splice	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11						blood coagulation	cytosol	GTP binding			ovary(3)	3						ATGTCGTTTCAGGGTTCTCTT	0.363													G	117742033	A	G	117742033	5	3	27	1	0	0	0	0	0	0	1	0	4686	202	7	3	2778	3	DOCK11	23	117742033	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	46574	117742033	37528527	8654	32605											
LONRF3	79836	broad.mit.edu	37	chrX	118123421	118123421	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggaggaagcagcagccagGggagatggcagcagtctgat	17	8	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:118123421G>T	uc004eqw.2	+	4	1141	c.1110G>T	c.(1108-1110)AGG>AGT	p.R370S	LONRF3_uc004eqx.2_Missense_Mutation_p.R329S|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Missense_Mutation_p.R114S	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger	370					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)	2						CAGCAGCCAGGGGAGATGGCA	0.502													T	118123421	G	T	118123421	3	4	27	1	0	0	0	0	1	0	0	0	8896	1223	43	5	1124	5	LONRF3	23	118123421	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	381388	118123421	37147139	8655	32606											
SLC25A43	203427	broad.mit.edu	37	chrX	118586848	118586848	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagttccatattttggaatTatgtttagcacctttgagtt	7	5	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:118586848T>C	uc004erd.2	+	5	1190	c.846T>C	c.(844-846)ATT>ATC	p.I282I	SLC25A43_uc011mtt.1_Missense_Mutation_p.Y225H	NM_145305	NP_660348	Q8WUT9	S2543_HUMAN	mitochondrial solute carrier protein	282	Solcar 3.|Helical; Name=6; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			skin(1)	1						ATTTTGGAATTATGTTTAGCA	0.353													C	118586848	T	C	118586848	2	2	27	1	0	0	0	0	0	0	0	1	14508	1742	61	3		3	SLC25A43	23	118586848	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	463427	118586848	36683712	8656	32607											
UBE2A	7319	broad.mit.edu	37	chrX	118708930	118708930	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaacataatggtgtggaaCgcggtcattttcgggtgagt	13	6	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:118708930C>T	uc004erl.2	+	2	287	c.111C>T	c.(109-111)AAC>AAT	p.N37N	UBE2A_uc004erm.2_Silent_p.N37N|UBE2A_uc004ern.2_RNA|UBE2A_uc004ero.2_RNA	NM_003336	NP_003327	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A isoform 1	37					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity				0						TGGTGTGGAACGCGGTCATTT	0.667								Direct_reversal_of_damage|Rad6_pathway					T	118708930	C	T	118708930	2	4	27	1	0	0	0	0	0	0	0	1	16841	535	19	1		1	UBE2A	23	118708930	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	122082	118708930	36561630	8657	32608											
NKRF	55922	broad.mit.edu	37	chrX	118723331	118723331	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatctcaatttgcttgaggcAtaacaagctcgtaatggccc	9	10	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:118723331A>G	uc004erq.2	-	2	2710	c.2057T>C	c.(2056-2058)ATG>ACG	p.M686T	NKRF_uc004err.2_Missense_Mutation_p.M686T	NM_017544	NP_060014	O15226	NKRF_HUMAN	transcription factor NRF	686					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			ovary(1)|central_nervous_system(1)	2						TGCTTGAGGCATAACAAGCTC	0.403													G	118723331	A	G	118723331	3	3	27	1	0	0	0	0	1	0	0	0	10447	217	8	3	19	3	NKRF	23	118723331	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	14401	118723331	36547229	8658	32609											
SEPT6	23157	broad.mit.edu	37	chrX	118797509	118797509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcgtgagctttagcctcaCgttgctctcttggaggtcat	11	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:118797509C>T	uc004erv.2	-	3	542	c.277G>A	c.(277-279)GTG>ATG	p.V93M	SEPT6_uc010nqk.2_RNA|SEPT6_uc004ers.2_Missense_Mutation_p.V93M|SEPT6_uc004ert.2_Missense_Mutation_p.V93M|SEPT6_uc004eru.2_Missense_Mutation_p.V93M|SEPT6_uc004erw.2_Missense_Mutation_p.V35M|SEPT6_uc011mtv.1_Missense_Mutation_p.V35M|SEPT6_uc011mtw.1_Missense_Mutation_p.V123M	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	septin 6 isoform B	93					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			lung(1)|ovary(1)|prostate(1)|kidney(1)	4						TTTAGCCTCACGTTGCTCTCT	0.562													T	118797509	C	T	118797509	3	4	27	1	0	0	0	0	1	0	0	0	14068	536	19	1	1081	1	SEPT6	23	118797509	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	74178	118797509	36473051	8659	32610											
UPF3B	65109	broad.mit.edu	37	chrX	118968985	118968985	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggtaaagctgcatcgctggAcgatcctgaagtacaataaa	10	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:118968985A>T	uc004erz.1	-	11	1385	c.1308T>A	c.(1306-1308)CGT>CGA	p.R436R	UPF3B_uc004esa.1_Silent_p.R423R	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	436	Necessary for interaction with RBM8A and for activating NMD.|Sufficient for association with EJC core.			R->A: Impairs association with EJC.|R->A: Reduces NMD.|Missing: Abolishes NMD.	mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(2)|kidney(1)	3						GCATCGCTGGACGATCCTGAA	0.418													T	118968985	A	T	118968985	2	4	27	1	0	0	0	0	0	0	0	1	17003	262	10	5		5	UPF3B	23	118968985	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	171476	118968985	36301575	8660	32611											
RNF113A	7737	broad.mit.edu	37	chrX	119005489	119005489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggccgggcgctttctgcGtccagcagcccctttccgcc	12	18	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:119005489G>A	uc004esb.2	-	1	303	c.88C>T	c.(88-90)CGC>TGC	p.R30C	NDUFA1_uc004esc.3_5'Flank	NM_006978	NP_008909	O15541	R113A_HUMAN	ring finger protein 113A	30							nucleic acid binding|zinc ion binding			breast(2)	2						CGCTTTCTGCGTCCAGCAGCC	0.597													A	119005489	G	A	119005489	3	1	27	1	0	0	0	0	1	0	0	0	13427	1145	40	1	947	1	RNF113A	23	119005489	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	36504	119005489	36265071	8661	32612											
GLUD2	2747	broad.mit.edu	37	chrX	120181790	120181790	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccagcatcgtggaggacaaGttggtgaaggacctgaggac	16	8	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:120181790G>C	uc004eto.2	+	1	329	c.252G>C	c.(250-252)AAG>AAC	p.K84N		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	84		Substrate (By similarity).			glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)	TGGAGGACAAGTTGGTGAAGG	0.617													C	120181790	G	C	120181790	3	2	27	1	0	0	0	0	1	0	0	0	6477	1020	36	5	254	5	GLUD2	23	120181790	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1176301	120181790	35088770	8662	32613											
GLUD2	2747	broad.mit.edu	37	chrX	120182575	120182575	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagatggtattgacccaaAggaactggaagacttcaaat	9	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:120182575A>C	uc004eto.2	+	1	1114	c.1037A>C	c.(1036-1038)AAG>ACG	p.K346T		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	346					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATTGACCCAAAGGAACTGGAA	0.453													C	120182575	A	C	120182575	3	2	27	1	0	0	0	0	1	0	0	0	6477	72	3	5	1039	5	GLUD2	23	120182575	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	785	120182575	35087985	8663	32614											
GRIA3	2892	broad.mit.edu	37	chrX	122551552	122551553	+	Missense_Mutation	DNP	AA	AA	GT													caaagtcctcctgatcctccAaatgaatttggaatatttaa							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:122551552_122551553AA>GT	uc004etq.3	+	12	2093_2094	c.1800_1801AA>GT	c.(1798-1803)CCAAAT>CCGTAT	p.N601Y	GRIA3_uc004etr.3_Missense_Mutation_p.N601Y|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.N585Y	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	601	Cytoplasmic (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)	CTGATCCTCCAAATGAATTTGG	0.416													GT	122551553	AA	GT	122551552	3	3	27	1	0	0	0	0	1	0	0	0	6769	117	5	3	1842	3	GRIA3	23	122551552	Missense_Mutation	DNP	AA	TCGA-BR-6452-01A-12D-1800-08	2368977	122551552	32719008	8664	32615											
THOC2	57187	broad.mit.edu	37	chrX	122756954	122756954	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtttctacaaataagcatAccagtctcctcagtactgct	5	11	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:122756954A>G	uc004etu.2	-	29	3714	c.3682_splice	c.e29+1	p.D1228_splice	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_Intron	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2						intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						AAATAAGCATACCAGTCTCCT	0.373													G	122756954	A	G	122756954	5	3	27	1	0	0	0	0	0	0	1	0	15862	405	14	3	1137	3	THOC2	23	122756954	Splice_Site	SNP	A	TCGA-BR-6452-01A-12D-1800-08	205402	122756954	32513606	8665	32616											
THOC2	57187	broad.mit.edu	37	chrX	122757104	122757104	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattttcaggtatcatgtaTgactttctacttttcaactg	5	8	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:122757104T>C	uc004etu.2	-	29	3566	c.3534A>G	c.(3532-3534)TCA>TCG	p.S1178S	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_5'UTR	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	1178					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						GTATCATGTATGACTTTCTAC	0.403													C	122757104	T	C	122757104	2	2	27	1	0	0	0	0	0	0	0	1	15862	1451	51	3		3	THOC2	23	122757104	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	150	122757104	32513456	8666	32617											
THOC2	57187	broad.mit.edu	37	chrX	122830676	122830676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcgttcctttagaactGtgtctgaaactaaatactgt	8	9	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:122830676G>A	uc004etu.2	-	6	394	c.362C>T	c.(361-363)ACA>ATA	p.T121I	THOC2_uc011muh.1_Missense_Mutation_p.T42I|THOC2_uc011mui.1_Missense_Mutation_p.T6I	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	121					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						CTTTAGAACTGTGTCTGAAAC	0.308													A	122830676	G	A	122830676	3	1	27	1	0	0	0	0	1	0	0	0	15862	1377	48	4	4551	4	THOC2	23	122830676	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	73572	122830676	32439884	8667	32618											
STAG2	10735	broad.mit.edu	37	chrX	123171416	123171416	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaatcatacaagcatgacCgagatatagcacttcttgac	7	9	2	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:123171416C>T	uc004etz.3	+	5	667	c.328C>T	c.(328-330)CGA>TGA	p.R110*	STAG2_uc004eua.2_Nonsense_Mutation_p.R110*|STAG2_uc004eub.2_Nonsense_Mutation_p.R110*|STAG2_uc004euc.2_Nonsense_Mutation_p.R110*|STAG2_uc004eud.2_Nonsense_Mutation_p.R110*|STAG2_uc004eue.2_Nonsense_Mutation_p.R110*	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	110					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						CAAGCATGACCGAGATATAGC	0.323													T	123171416	C	T	123171416	4	4	27	1	0	0	0	0	0	1	0	0	15242	644	23	1	342	1	STAG2	23	123171416	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	340740	123171416	32099144	8668	32619											
ODZ1	10178	broad.mit.edu	37	chrX	123631108	123631108	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttctccattccctttatgTatgattcctagattcaagga	5	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:123631108T>C	uc004euj.2	-	20	3517	c.3453A>G	c.(3451-3453)ATA>ATG	p.I1151M	ODZ1_uc011muj.1_Missense_Mutation_p.I1150M|ODZ1_uc010nqy.2_Missense_Mutation_p.I1151M	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1151	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TCCCTTTATGTATGATTCCTA	0.358													C	123631108	T	C	123631108	3	2	27	1	0	0	0	0	1	0	0	0	10834	1628	57	3	4797	3	ODZ1	23	123631108	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	459692	123631108	31639452	8669	32620											
ODZ1	10178	broad.mit.edu	37	chrX	123663719	123663719	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaacattgacataccttccAtcttgccggctgatggtaaa	7	11	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:123663719A>G	uc004euj.2	-	16	2830	c.2766T>C	c.(2764-2766)GAT>GAC	p.D922D	ODZ1_uc011muj.1_Silent_p.D921D|ODZ1_uc010nqy.2_Silent_p.D922D	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	922	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						CATACCTTCCATCTTGCCGGC	0.478													G	123663719	A	G	123663719	2	3	27	1	0	0	0	0	0	0	0	1	10834	214	8	3		3	ODZ1	23	123663719	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	32611	123663719	31606841	8670	32621											
ODZ1	10178	broad.mit.edu	37	chrX	123680797	123680798	+	Frame_Shift_Ins	INS	-	-	A													aggaatttgattcgatcataINSaaaaagtcttgaagtgtgct							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:123680796_123680797T>TA	uc010nqy.3	-	14	2642_2643	c.2578_2579A>TA	c.(2578-2580)tatfs	p.Y860fs	ODZ1_uc011muj.2_Frame_Shift_Ins_p.Y859fs|ODZ1_uc004euj.3_Frame_Shift_Ins_p.Y860fs	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	860					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GATTCGATCATAAAAAAGTCTT	0.411													A	123680798	-	A	123680797	7	5	27	1	0	1	1	0	0	0	0	0	10834	362	13	0	5692	0	ODZ1	23	123680797	Frame_Shift_Ins	INS	-	TCGA-BR-6452-01A-12D-1800-08	17078	123680797	31589763	8671	32622											
ODZ1	10178	broad.mit.edu	37	chrX	124028174	124028174	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acccagcttgagcctccatgTcacaacaaacaggagagaat	8	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:124028174T>G	uc004euj.2	-	3	570	c.506A>C	c.(505-507)GAC>GCC	p.D169A	ODZ1_uc011muj.1_Missense_Mutation_p.D169A|ODZ1_uc010nqy.2_Missense_Mutation_p.D169A	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	169	Teneurin N-terminal.|Cytoplasmic (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						AGCCTCCATGTCACAACAAAC	0.418													G	124028174	T	G	124028174	3	3	27	1	0	0	0	0	1	0	0	0	10834	1667	58	5	7812	5	ODZ1	23	124028174	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	347377	124028174	31242386	8672	32623											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298619	125298619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagcagtgggtgtagagcGcattggggaactctcccatg	15	8	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:125298619G>A	uc004euk.1	-	1	1316	c.1289C>T	c.(1288-1290)GCG>GTG	p.A430V		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	430										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						GGTGTAGAGCGCATTGGGGAA	0.602													A	125298619	G	A	125298619	3	1	27	1	0	0	0	0	1	0	0	0	4265	1087	38	1	106	1	DCAF12L2	23	125298619	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1270445	125298619	29971941	8673	32624											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299369	125299369	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcacagggggtccagggtgGgcagctggtagatggccagg	21	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:125299369G>T	uc004euk.1	-	1	566	c.539C>A	c.(538-540)CCC>CAC	p.P180H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	180	WD 1.									lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						GTCCAGGGTGGGCAGCTGGTA	0.662													T	125299369	G	T	125299369	3	4	27	1	0	0	0	0	1	0	0	0	4265	1232	43	5	856	5	DCAF12L2	23	125299369	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	750	125299369	29971191	8674	32625											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685932	125685932	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacttgtccgggtccatccgCcacagcgccacagtgccgtc	10	17	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:125685932C>A	uc004eul.2	-	1	911	c.660G>T	c.(658-660)TGG>TGT	p.W220C		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	220	WD 2.									skin(3)|ovary(1)	4						GGTCCATCCGCCACAGCGCCA	0.652													A	125685932	C	A	125685932	3	1	27	1	0	0	0	0	1	0	0	0	4264	740	26	5	735	5	DCAF12L1	23	125685932	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	386563	125685932	29584628	8675	32626											
ACTRT1	139741	broad.mit.edu	37	chrX	127185200	127185200	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcaggagaagctgtgatcTtgatgggagtacctttggaa	13	5	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:127185200T>C	uc004eum.2	-	1	1183	c.986A>G	c.(985-987)AAG>AGG	p.K329R		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	329						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)|skin(1)	5						AGCTGTGATCTTGATGGGAGT	0.532													C	127185200	T	C	127185200	3	2	27	1	0	0	0	0	1	0	0	0	218	1609	56	3	148	3	ACTRT1	23	127185200	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1499268	127185200	28085360	8676	32627											
OCRL	4952	broad.mit.edu	37	chrX	128722913	128722913	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctcattttcttggaagccCtgccagagccagtcatctgt	9	12	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:128722913C>A	uc004euq.2	+	22	2557	c.2392C>A	c.(2392-2394)CTG>ATG	p.L798M	OCRL_uc004eur.2_Missense_Mutation_p.L790M|OCRL_uc010nrb.2_RNA	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	798	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			lung(2)|ovary(1)|kidney(1)	4						CTTGGAAGCCCTGCCAGAGCC	0.527													A	128722913	C	A	128722913	3	1	27	1	0	0	0	0	1	0	0	0	10823	680	24	5	2478	5	OCRL	23	128722913	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1537713	128722913	26547647	8677	32628											
XPNPEP2	7512	broad.mit.edu	37	chrX	128877956	128877956	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaccttccagttactgtggTcaataccacaatgtcactca	6	12	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:128877956T>C	uc004eut.1	+	3	387	c.143T>C	c.(142-144)GTC>GCC	p.V48A	XPNPEP2_uc011mum.1_Missense_Mutation_p.V48A	NM_003399	NP_003390	O43895	XPP2_HUMAN	X-prolyl aminopeptidase 2, membrane-bound	48					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0						GTTACTGTGGTCAATACCACA	0.488													C	128877956	T	C	128877956	3	2	27	1	0	0	0	0	1	0	0	0	17440	1667	58	3	153	3	XPNPEP2	23	128877956	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	155043	128877956	26392604	8678	32629											
UTP14A	10813	broad.mit.edu	37	chrX	129041389	129041389	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aactagcggatttgccaaaaGactacctcttgagtgagagt	10	8	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:129041389G>C	uc004euz.2	+	2	101	c.73G>C	c.(73-75)GAC>CAC	p.D25H	UTP14A_uc011mup.1_Missense_Mutation_p.D25H|UTP14A_uc011muq.1_5'UTR	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	25					rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2						TTTGCCAAAAgactacctctt	0.254													C	129041389	G	C	129041389	3	2	27	1	0	0	0	0	1	0	0	0	17092	942	33	5	79	5	UTP14A	23	129041389	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	163433	129041389	26229171	8679	32630											
BCORL1	63035	broad.mit.edu	37	chrX	129147516	129147516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcccttagcacctgtcccGgctctggctccagcgccacc	8	21	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:129147516G>A	uc004evb.1	+	4	882	c.768G>A	c.(766-768)CCG>CCA	p.P256P	BCORL1_uc010nrd.1_Silent_p.P158P	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	256	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						CACCTGTCCCGGCTCTGGCTC	0.622													A	129147516	G	A	129147516	2	1	27	1	0	0	0	0	0	0	0	1	1387	1103	39	1		1	BCORL1	23	129147516	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	106127	129147516	26123044	8680	32631											
BCORL1	63035	broad.mit.edu	37	chrX	129159025	129159025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgggaagccaggaagtctTccccacagaagaagaagagg	13	9	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:129159025T>C	uc004evb.1	+	7	3863	c.3749T>C	c.(3748-3750)TTC>TCC	p.F1250S	BCORL1_uc010nrd.1_Intron|BCORL1_uc004evc.1_Missense_Mutation_p.F12S	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1250					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						CAGGAAGTCTTCCCCACAGAA	0.552													C	129159025	T	C	129159025	3	2	27	1	0	0	0	0	1	0	0	0	1387	1783	62	3	3771	3	BCORL1	23	129159025	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	11509	129159025	26111535	8681	32632											
BCORL1	63035	broad.mit.edu	37	chrX	129185849	129185849	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacagaggaaaaagacgggTttgcctgtgacctcctacat	10	9	0	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:129185849T>G	uc004evb.1	+	12	4825	c.4711T>G	c.(4711-4713)TTT>GTT	p.F1571V	BCORL1_uc004evc.1_Missense_Mutation_p.F407V	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1571					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						AAAAGACGGGTTTGCCTGTGA	0.463													G	129185849	T	G	129185849	3	3	27	1	0	0	0	0	1	0	0	0	1387	1725	60	5	4979	5	BCORL1	23	129185849	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	26824	129185849	26084711	8682	32633											
BCORL1	63035	broad.mit.edu	37	chrX	129190011	129190011	+	Frame_Shift_Del	DEL	C	C	-													tggaggcttggacgacagatCccccccaggctcctctgaga							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:129190010_129190010TC>T	uc022cdu.1	+	11	5079	c.5035_5035TC>T	c.(5035-5037)tccfs	p.S1679fs	BCORL1_uc004evc.2_Frame_Shift_Del_p.S515fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1679					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGACGACAGATCCCCCCCAGG	0.607													-	129190011	C	-	129190011	7	5	27	1	0	1	0	1	0	0	0	0	1387	855	30	0	5308	0	BCORL1	23	129190011	Frame_Shift_Del	DEL	C	TCGA-BR-6452-01A-12D-1800-08	4162	129190011	26080549	8683	32634											
ZNF280C	55609	broad.mit.edu	37	chrX	129339307	129339307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcaagtatgagttttacGttgacttaagtgtttagcca	10	5	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:129339307G>A	uc004evm.2	-	17	2279	c.2125C>T	c.(2125-2127)CGT>TGT	p.R709C		NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	709					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3						TGAGTTTTACGTTGACTTAAG	0.333													A	129339307	G	A	129339307	3	1	27	1	0	0	0	0	1	0	0	0	17813	1145	40	1	100	1	ZNF280C	23	129339307	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	149296	129339307	25931253	8684	32635											
ENOX2	10495	broad.mit.edu	37	chrX	129804045	129804045	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccattcttctacgatggcgCtcctctctggctagcatacg	8	14	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:129804045C>A	uc004evw.2	-	8	1093	c.675G>T	c.(673-675)GAG>GAT	p.E225D	ENOX2_uc004evx.2_Missense_Mutation_p.E196D|ENOX2_uc004evy.2_Missense_Mutation_p.E196D|ENOX2_uc004evv.2_Missense_Mutation_p.E52D	NM_182314	NP_872114	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2 isoform b	225					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			ovary(1)	1						TACGATGGCGCTCCTCTCTGG	0.493													A	129804045	C	A	129804045	3	1	27	1	0	0	0	0	1	0	0	0	5127	796	28	5	1193	5	ENOX2	23	129804045	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	464738	129804045	25466515	8685	32636											
ARHGAP36	158763	broad.mit.edu	37	chrX	130215725	130215725	+	Frame_Shift_Del	DEL	T	T	-													gctgttgttgtccgccttcaTttttttagtgagtgtcttgg							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:130215724_130215724AT>A	uc004evz.3	+	1	430	c.85_85AT>A	c.(85-87)attfs	p.I29fs	ARHGAP36_uc004ewa.3_Intron|ARHGAP36_uc004ewb.3_Intron|ARHGAP36_uc004ewc.3_5'Flank	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	29					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GTCCGCCTTCATTTTTTTAGT	0.537													-	130215725	T	-	130215725	7	5	27	1	0	1	0	1	0	0	0	0	883	1493	52	0	88	0	ARHGAP36	23	130215725	Frame_Shift_Del	DEL	T	TCGA-BR-6452-01A-12D-1800-08	411680	130215725	25054835	8686	32637											
IGSF1	3547	broad.mit.edu	37	chrX	130408638	130408638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcagggtaggcctggaggCggtagctgcagctgtagttt	16	7	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:130408638C>T	uc004ewd.2	-	18	3924	c.3686G>A	c.(3685-3687)CGC>CAC	p.R1229H	IGSF1_uc004ewe.3_Missense_Mutation_p.R1223H|IGSF1_uc004ewf.2_Missense_Mutation_p.R1209H	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	1229	Extracellular (Potential).|Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						GGCCTGGAGGCGGTAGCTGCA	0.517													T	130408638	C	T	130408638	3	4	27	1	0	0	0	0	1	0	0	0	7596	768	27	1	336	1	IGSF1	23	130408638	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	192913	130408638	24861922	8687	32638											
IGSF1	3547	broad.mit.edu	37	chrX	130416641	130416641	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccactggtcctcgacaccgTaggctcacattctgacccat	7	16	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:130416641T>C	uc004ewd.2	-	7	1261	c.1023A>G	c.(1021-1023)CTA>CTG	p.L341L	IGSF1_uc004ewe.3_Silent_p.L330L|IGSF1_uc004ewf.2_Silent_p.L321L	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	341	Ig-like C2-type 4.|Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						CTCGACACCGTAGGCTCACAT	0.493													C	130416641	T	C	130416641	2	2	27	1	0	0	0	0	0	0	0	1	7596	1625	57	3		3	IGSF1	23	130416641	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	8003	130416641	24853919	8688	32639											
FRMD7	90167	broad.mit.edu	37	chrX	131211940	131211940	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atggttttagtgaagtcctgTcttcagcagttggtgtgttg	13	5	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:131211940T>A	uc004ewn.2	-	12	2283	c.2105A>T	c.(2104-2106)GAC>GTC	p.D702V	FRMD7_uc011muy.1_Missense_Mutation_p.D687V	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	702					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)					TGAAGTCCTGTCTTCAGCAGT	0.403													A	131211940	T	A	131211940	3	1	27	1	0	0	0	0	1	0	0	0	6055	1667	58	5	43	5	FRMD7	23	131211940	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	795299	131211940	24058620	8689	32640											
RAP2C	57826	broad.mit.edu	37	chrX	131348297	131348297	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagttcatccaccattgAtttactttttgccgatgtct	5	9	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:131348297A>T	uc004ewp.2	-	3	1235	c.451T>A	c.(451-453)TCA>ACA	p.S151T	RAP2C_uc004ewo.2_Missense_Mutation_p.S85T|RAP2C_uc010nrk.2_RNA|RAP2C_uc004ewq.3_Missense_Mutation_p.S151T	NM_021183	NP_067006	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family precursor	151					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					TCCACCATTGATTTACTTTTT	0.458													T	131348297	A	T	131348297	3	4	27	1	0	0	0	0	1	0	0	0	13042	333	12	5	104	5	RAP2C	23	131348297	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	136357	131348297	23922263	8690	32641											
USP26	83844	broad.mit.edu	37	chrX	132160099	132160099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcttcatacaaatctttaGtaggattgataatcctatca	4	7	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:132160099G>A	uc010nrm.1	-	6	2620	c.2150C>T	c.(2149-2151)ACT>ATT	p.T717I	USP26_uc011mvf.1_Missense_Mutation_p.T717I	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	717					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					CAAATCTTTAGTAGGATTGAT	0.343													A	132160099	G	A	132160099	3	1	27	1	0	0	0	0	1	0	0	0	17054	1029	36	4	594	4	USP26	23	132160099	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	811802	132160099	23110461	8691	32642											
USP26	83844	broad.mit.edu	37	chrX	132160305	132160305	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctaacggttctttttcaatGaatgctcgatctcctgagta	8	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:132160305G>T	uc010nrm.1	-	6	2414	c.1944C>A	c.(1942-1944)TTC>TTA	p.F648L	USP26_uc011mvf.1_Missense_Mutation_p.F648L	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	648					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					CTTTTTCAATGAATGCTCGAT	0.433													T	132160305	G	T	132160305	3	4	27	1	0	0	0	0	1	0	0	0	17054	1281	45	5	800	5	USP26	23	132160305	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	206	132160305	23110255	8692	32643											
USP26	83844	broad.mit.edu	37	chrX	132161101	132161101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgagctaaaaactcatgaGcatcgttctgtgcattgcca	9	9	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:132161101G>A	uc010nrm.1	-	6	1618	c.1148C>T	c.(1147-1149)GCT>GTT	p.A383V	USP26_uc011mvf.1_Missense_Mutation_p.A383V	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	383					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					AAACTCATGAGCATCGTTCTG	0.353													A	132161101	G	A	132161101	3	1	27	1	0	0	0	0	1	0	0	0	17054	971	34	2	1596	2	USP26	23	132161101	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	796	132161101	23109459	8693	32644											
FAM127C	441518	broad.mit.edu	37	chrX	134156176	134156176	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtcctcctcccatccaAagacccgcttcatctcagcc	4	21	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:134156176A>G	uc004eyc.1	-	1	391	c.314T>C	c.(313-315)TTT>TCT	p.F105S		NM_001078173	NP_001071641	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	105											0	Acute lymphoblastic leukemia(192;0.000127)					CTCCCATCCAAAGACCCGCTT	0.657													G	134156176	A	G	134156176	3	3	27	1	0	0	0	0	1	0	0	0	5433	14	1	3	31	3	FAM127C	23	134156176	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	1995075	134156176	21114384	8694	32645											
FAM127B	26071	broad.mit.edu	37	chrX	134186058	134186058	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaacgtctcgggaaagggAatcgggttcctccagcgacg	13	11	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:134186058A>G	uc004eyf.2	-	1	164	c.81T>C	c.(79-81)ATT>ATC	p.I27I	FAM127B_uc004eyg.3_Silent_p.I27I	NM_001078172	NP_001071640	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	27											0	Acute lymphoblastic leukemia(192;0.000127)					CGGGAAAGGGAATCGGGTTCC	0.667													G	134186058	A	G	134186058	2	3	27	1	0	0	0	0	0	0	0	1	5432	242	9	3		3	FAM127B	23	134186058	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	29882	134186058	21084502	8695	32646											
ZNF75D	7626	broad.mit.edu	37	chrX	134426266	134426266	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcccagctgttcttgtagtAcccggtatgtattccaatat	8	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:134426266A>G	uc004eyp.2	-	4	3200	c.545T>C	c.(544-546)GTA>GCA	p.V182A	ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'UTR|ZNF75D_uc004eyo.2_Intron	NM_007131	NP_009062	P51815	ZN75D_HUMAN	zinc finger protein 75	182					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TTCTTGTAGTACCCGGTATGT	0.502													G	134426266	A	G	134426266	3	3	27	1	0	0	0	0	1	0	0	0	18131	391	14	3	1003	3	ZNF75D	23	134426266	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	240208	134426266	20844294	8696	32647											
DDX26B	203522	broad.mit.edu	37	chrX	134680680	134680680	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtgaactaaccaaagaaccTtttcgttgggatcaaaggtt	9	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:134680680T>A	uc004eyw.3	+	5	846	c.483T>A	c.(481-483)CCT>CCA	p.P161P		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	161	VWFA.										0	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAAGAACCTTTTCGTTGGG	0.443													A	134680680	T	A	134680680	2	1	27	1	0	0	0	0	0	0	0	1	4353	1596	56	5		5	DDX26B	23	134680680	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	254414	134680680	20589880	8697	32648											
SAGE1	55511	broad.mit.edu	37	chrX	134988269	134988269	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttgtcaactggtcccacaGggcttattaatatggcagca	9	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:134988269G>T	uc004ezh.2	+	6	708	c.541G>T	c.(541-543)GGG>TGG	p.G181W	SAGE1_uc010nry.1_Missense_Mutation_p.G150W|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	181										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					TGGTCCCACAGGGCTTATTAA	0.438													T	134988269	G	T	134988269	3	4	27	1	0	0	0	0	1	0	0	0	13809	1000	35	5	559	5	SAGE1	23	134988269	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	307589	134988269	20282291	8698	32649											
SAGE1	55511	broad.mit.edu	37	chrX	134988582	134988582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttccagatgctacagtcaCtcacaatgtctgtgaacaga	8	10	3	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:134988582C>T	uc004ezh.2	+	7	775	c.608C>T	c.(607-609)ACT>ATT	p.T203I	SAGE1_uc010nry.1_Missense_Mutation_p.T172I|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	203										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GCTACAGTCACTCACAATGTC	0.443													T	134988582	C	T	134988582	3	4	27	1	0	0	0	0	1	0	0	0	13809	565	20	4	630	4	SAGE1	23	134988582	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	313	134988582	20281978	8699	32650											
MMGT1	93380	broad.mit.edu	37	chrX	135047292	135047292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggaaaagtactcgaccaCgatgattaaatacataaaag	8	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:135047292C>T	uc004ezi.1	-	4	587	c.287G>A	c.(286-288)CGT>CAT	p.R96H	MMGT1_uc011mvw.1_Missense_Mutation_p.R161H	NM_173470	NP_775741	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1 precursor	96	Cytoplasmic (Potential).					early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity				0						TACTCGACCACGATGATTAAA	0.358													T	135047292	C	T	135047292	3	4	27	1	0	0	0	0	1	0	0	0	9647	536	19	1	112	1	MMGT1	23	135047292	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	58710	135047292	20223268	8700	32651											
MAP7D3	79649	broad.mit.edu	37	chrX	135308164	135308164	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgagcttttattttggcGtcccctttctaggaaatttg	8	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:135308164G>A	uc004ezt.2	-	13	2134	c.2043C>T	c.(2041-2043)GAC>GAT	p.D681D	MAP7D3_uc004ezs.2_Silent_p.D645D|MAP7D3_uc011mwc.1_Silent_p.D663D|MAP7D3_uc010nsa.1_Silent_p.D639D	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	681						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TTATTTTGGCGTCCCCTTTCT	0.333													A	135308164	G	A	135308164	2	1	27	1	0	0	0	0	0	0	0	1	9269	1136	40	1		1	MAP7D3	23	135308164	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	260872	135308164	19962396	8701	32652											
GPR112	139378	broad.mit.edu	37	chrX	135405392	135405392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaggttaaaagcatgatgCgtagctttcctggcagcttg	13	8	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:135405392C>T	uc004ezu.1	+	5	817	c.526C>T	c.(526-528)CGT>TGT	p.R176C	GPR112_uc010nsb.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	176	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					AAGCATGATGCGTAGCTTTCC	0.448													T	135405392	C	T	135405392	3	4	27	1	0	0	0	0	1	0	0	0	6629	768	27	1	532	1	GPR112	23	135405392	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	97228	135405392	19865168	8702	32653											
GPR112	139378	broad.mit.edu	37	chrX	135427956	135427956	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttatacagaatatttatcCgcaactaccaatatcacccc	2	13	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:135427956C>T	uc004ezu.1	+	6	2382	c.2091C>T	c.(2089-2091)TCC>TCT	p.S697S	GPR112_uc010nsb.1_Silent_p.S492S|GPR112_uc010nsc.1_Silent_p.S464S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	697	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					AATATTTATCCGCAACTACCA	0.398													T	135427956	C	T	135427956	2	4	27	1	0	0	0	0	0	0	0	1	6629	639	23	1		1	GPR112	23	135427956	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	22564	135427956	19842604	8703	32654											
GPR112	139378	broad.mit.edu	37	chrX	135428674	135428674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttaattttaaccacaccTatgtagcacattggacttca	5	9	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:135428674T>C	uc004ezu.1	+	6	3100	c.2809T>C	c.(2809-2811)TAT>CAT	p.Y937H	GPR112_uc010nsb.1_Missense_Mutation_p.Y732H|GPR112_uc010nsc.1_Missense_Mutation_p.Y704H	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	937	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					TAACCACACCTATGTAGCACA	0.423													C	135428674	T	C	135428674	3	2	27	1	0	0	0	0	1	0	0	0	6629	1522	53	3	2819	3	GPR112	23	135428674	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	718	135428674	19841886	8704	32655											
GPR112	139378	broad.mit.edu	37	chrX	135429100	135429100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaaccattgttattgtgCctacccatggagacttgatt	7	11	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:135429100C>T	uc004ezu.1	+	6	3526	c.3235C>T	c.(3235-3237)CCT>TCT	p.P1079S	GPR112_uc010nsb.1_Missense_Mutation_p.P874S|GPR112_uc010nsc.1_Missense_Mutation_p.P846S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1079	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					TGTTATTGTGCCTACCCATGG	0.458													T	135429100	C	T	135429100	3	4	27	1	0	0	0	0	1	0	0	0	6629	739	26	2	3245	2	GPR112	23	135429100	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	426	135429100	19841460	8705	32656											
GPR112	139378	broad.mit.edu	37	chrX	135429880	135429880	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacttctggaagcacacagAttacaccaaccttgacctca	5	15	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:135429880A>C	uc004ezu.1	+	6	4306	c.4015A>C	c.(4015-4017)ATT>CTT	p.I1339L	GPR112_uc010nsb.1_Missense_Mutation_p.I1134L|GPR112_uc010nsc.1_Missense_Mutation_p.I1106L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1339	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					AAGCACACAGATTACACCAAC	0.453													C	135429880	A	C	135429880	3	2	27	1	0	0	0	0	1	0	0	0	6629	333	12	5	4025	5	GPR112	23	135429880	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	780	135429880	19840680	8706	32657											
GPR112	139378	broad.mit.edu	37	chrX	135430773	135430773	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actacagaaatgatagaggcAccttccaggatcacacctac	7	12	1	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:135430773A>G	uc004ezu.1	+	6	5199	c.4908A>G	c.(4906-4908)GCA>GCG	p.A1636A	GPR112_uc010nsb.1_Silent_p.A1431A|GPR112_uc010nsc.1_Silent_p.A1403A	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1636	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					TGATAGAGGCACCTTCCAGGA	0.448													G	135430773	A	G	135430773	2	3	27	1	0	0	0	0	0	0	0	1	6629	146	6	3		3	GPR112	23	135430773	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	893	135430773	19839787	8707	32658											
GPR112	139378	broad.mit.edu	37	chrX	135482127	135482127	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttcagaaagtgggagtttgTatcacagctgcagtggcact	12	7	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:135482127T>A	uc004ezu.1	+	21	8718	c.8427T>A	c.(8425-8427)TGT>TGA	p.C2809*	GPR112_uc010nsb.1_Nonsense_Mutation_p.C2604*	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2809	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					TGGGAGTTTGTATCACAGCTG	0.428													A	135482127	T	A	135482127	4	1	27	1	0	0	0	0	0	1	0	0	6629	1644	57	5	8497	5	GPR112	23	135482127	Nonsense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	51354	135482127	19788433	8708	32659											
HTATSF1	27336	broad.mit.edu	37	chrX	135593206	135593206	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagaagaagtttgaaaagacAgaagatgggggagaatttga	15	1	0	8			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:135593206A>T	uc004ezw.2	+	10	1724	c.1302A>T	c.(1300-1302)ACA>ACT	p.T434T	HTATSF1_uc004ezx.2_Silent_p.T434T	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	434	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					TTGAAAAGACAGAAGATGGGG	0.418													T	135593206	A	T	135593206	2	4	27	1	0	0	0	0	0	0	0	1	7433	175	7	5		5	HTATSF1	23	135593206	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	111079	135593206	19677354	8709	32660											
VGLL1	51442	broad.mit.edu	37	chrX	135631112	135631112	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagaatggcaaccctggCcagatagctggaagcacagg	15	9	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:135631112C>T	uc004ezy.2	+	3	749	c.579C>T	c.(577-579)GGC>GGT	p.G193G	MIR934_hsa-mir-934|MI0005756_5'Flank	NM_016267	NP_057351	Q99990	VGLL1_HUMAN	vestigial like 1	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity				0	Acute lymphoblastic leukemia(192;0.000127)					GCAACCCTGGCCAGATAGCTG	0.562													T	135631112	C	T	135631112	2	4	27	1	0	0	0	0	0	0	0	1	17155	726	26	2		2	VGLL1	23	135631112	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	37906	135631112	19639448	8710	32661											
CD40LG	959	broad.mit.edu	37	chrX	135732555	135732555	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtttgaaggctttgtgaAggtaagcagcttaattactg	11	6	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:135732555A>G	uc004faa.2	+	2	359	c.287A>G	c.(286-288)AAG>AGG	p.K96R	CD40LG_uc010nsd.2_Missense_Mutation_p.K96R|CD40LG_uc010nse.1_RNA	NM_000074	NP_000065	P29965	CD40L_HUMAN	CD40 ligand	96	Extracellular (Potential).				anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	GGCTTTGTGAAGGTAAGCAGC	0.353									Immune_Deficiency_with_Hyper-IgM				G	135732555	A	G	135732555	3	3	27	1	0	0	0	0	1	0	0	0	3016	86	3	3	293	3	CD40LG	23	135732555	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	101443	135732555	19538005	8711	32662											
ZIC3	7547	broad.mit.edu	37	chrX	136651095	136651095	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtgaatttgaaggctgTgacagacgctttgccaacag	11	7	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:136651095T>C	uc004fak.2	+	2	1600	c.1095T>C	c.(1093-1095)TGT>TGC	p.C365C		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	365	C2H2-type 4.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					TTGAAGGCTGTGACAGACGCT	0.502													C	136651095	T	C	136651095	2	2	27	1	0	0	0	0	0	0	0	1	17677	1702	59	3		3	ZIC3	23	136651095	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	918540	136651095	18619465	8712	32663											
MCF2	4168	broad.mit.edu	37	chrX	138697061	138697061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttagatgaaaaaaatgGtgtcccagatgtgaccaaat	9	5	0	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:138697061G>A	uc004fau.2	-	10	1636	c.1342C>T	c.(1342-1344)CCA>TCA	p.P448S	MCF2_uc004fav.2_Missense_Mutation_p.P448S|MCF2_uc011mwl.1_Missense_Mutation_p.P409S|MCF2_uc010nsh.1_Missense_Mutation_p.P448S|MCF2_uc011mwm.1_Missense_Mutation_p.P409S|MCF2_uc011mwn.1_Missense_Mutation_p.P593S|MCF2_uc004faw.2_Missense_Mutation_p.P508S|MCF2_uc011mwo.1_Missense_Mutation_p.P508S	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	448					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					GAAAAAAATGGTGTCCCAGAT	0.378													A	138697061	G	A	138697061	3	1	27	1	0	0	0	0	1	0	0	0	9378	1261	44	4	1579	4	MCF2	23	138697061	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2045966	138697061	16573499	8713	32664											
MCF2	4168	broad.mit.edu	37	chrX	138713569	138713569	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catacatttctgaagatgatCcattcactgtggcagtactg	8	9	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:138713569C>T	uc004fau.2	-	3	567	c.273G>A	c.(271-273)TGG>TGA	p.W91*	MCF2_uc004fav.2_Nonsense_Mutation_p.W91*|MCF2_uc011mwl.1_Intron|MCF2_uc010nsh.1_Nonsense_Mutation_p.W91*|MCF2_uc011mwm.1_Intron|MCF2_uc011mwn.1_Nonsense_Mutation_p.W236*|MCF2_uc004faw.2_Nonsense_Mutation_p.W151*|MCF2_uc011mwo.1_Nonsense_Mutation_p.W151*	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	91					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					TGAAGATGATCCATTCACTGT	0.393													T	138713569	C	T	138713569	4	4	27	1	0	0	0	0	0	1	0	0	9378	856	30	4	2676	4	MCF2	23	138713569	Nonsense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	16508	138713569	16556991	8714	32665											
ATP11C	286410	broad.mit.edu	37	chrX	138827930	138827932	+	In_Frame_Del	DEL	AAG	AAG	-													gaaaaagaaagtaagtcccaAagaagaacactgtcccttca							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:138827929_138827931AAAG>A	uc004faz.3	-	24	3022_3024	c.2923_2925CTTT>T	c.(2923-2925)ttt>T	p.F975del	ATP11C_uc004fax.3_In_Frame_Del_p.F183del|ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_In_Frame_Del_p.F975del	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	975					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AGTAAGTCCCAAAGAAGAACACT	0.399													-	138827932	AAG	-	138827930	7	5	27	1	0	1	0	1	0	0	0	0	1121	14	1	0	561	0	ATP11C	23	138827930	In_Frame_Del	DEL	AAG	TCGA-BR-6452-01A-12D-1800-08	114361	138827930	16442630	8715	32666											
ATP11C	286410	broad.mit.edu	37	chrX	138840024	138840024	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcaaaatgaaacaaagGttctgaaaaaaaaaaattaa	7	3	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:138840024G>T	uc004faz.2	-	23	2751	c.2652C>A	c.(2650-2652)AAC>AAA	p.N884K	ATP11C_uc004fax.2_Missense_Mutation_p.N92K|ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.N884K	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	884	Helical; (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					TGAAACAAAGGTTCTGAAAAA	0.284													T	138840024	G	T	138840024	3	4	27	1	0	0	0	0	1	0	0	0	1121	1252	44	5	841	5	ATP11C	23	138840024	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	12094	138840024	16430536	8716	32667											
CXorf66	347487	broad.mit.edu	37	chrX	139038105	139038105	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgattgtaccctctgtcacAcgtaatgattataactttat	5	8	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:139038105A>G	uc004fbb.2	-	3	1058	c.1036T>C	c.(1036-1038)TGT>CGT	p.C346R		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	hypothetical protein LOC347487 precursor	346	Cytoplasmic (Potential).					integral to membrane					0						CCTCTGTCACACGTAATGATT	0.363													G	139038105	A	G	139038105	3	3	27	1	0	0	0	0	1	0	0	0	4118	159	6	3	53	3	CXorf66	23	139038105	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	198081	139038105	16232455	8717	32668											
SOX3	6658	broad.mit.edu	37	chrX	139586639	139586639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccttcatgtgcacggcgCgaagtcgcttggcctcgtcg	12	14	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:139586639C>T	uc004fbd.1	-	1	587	c.587G>A	c.(586-588)CGC>CAC	p.R196H		NM_005634	NP_005625	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	196	HMG box.				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			pancreas(1)	1	Acute lymphoblastic leukemia(192;7.65e-05)					GTGCACGGCGCGAAGTCGCTT	0.582													T	139586639	C	T	139586639	3	4	27	1	0	0	0	0	1	0	0	0	14951	768	27	1	757	1	SOX3	23	139586639	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	548534	139586639	15683921	8718	32669											
SPANXE	171489	broad.mit.edu	37	chrX	140785771	140785771	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtagcgaaccactagtatggTcgaggactcagatgttttta	11	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:140785771T>A	uc004fbq.2	-	2	238	c.145A>T	c.(145-147)ACC>TCC	p.T49S		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	SPANX family, member E	49						cytoplasm|nucleus					0	Acute lymphoblastic leukemia(192;7.65e-05)					ACTAGTATGGTCGAGGACTCA	0.493													A	140785771	T	A	140785771	3	1	27	1	0	0	0	0	1	0	0	0	14989	1667	58	5	152	5	SPANXE	23	140785771	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1199132	140785771	14484789	8719	32670											
MAGEC3	139081	broad.mit.edu	37	chrX	140969268	140969268	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtttcttctcctcaaaTatcaagcaaaagagcctctc	5	12	5	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:140969268T>C	uc011mwp.1	+	4	595	c.595T>C	c.(595-597)TAT>CAT	p.Y199H		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	199	MAGE 1.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCTCAAATATCAAGCAAA	0.458													C	140969268	T	C	140969268	3	2	27	1	0	0	0	0	1	0	0	0	9182	1406	49	3	609	3	MAGEC3	23	140969268	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	183497	140969268	14301292	8720	32671											
MAGEC1	9947	broad.mit.edu	37	chrX	140995836	140995836	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatatacaagttcctcAgacaccttgctagagagtga	9	8	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:140995836A>G	uc004fbt.2	+	4	2932	c.2646A>G	c.(2644-2646)TCA>TCG	p.S882S	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	882							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGTTCCTCAGACACCTTGC	0.493										HNSCC(15;0.026)			G	140995836	A	G	140995836	2	3	27	1	0	0	0	0	0	0	0	1	9180	175	7	3		3	MAGEC1	23	140995836	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	26568	140995836	14274724	8721	32672											
UBE2NL	389898	broad.mit.edu	37	chrX	142967329	142967329	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgtggtcattgctggggaaTcaaaggattccccctttgag	12	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:142967329T>A	uc004fca.2	+	1	157	c.127T>A	c.(127-129)TCA>ACA	p.S43T		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	43							acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGGGGAATCAAAGGATTC	0.468													A	142967329	T	A	142967329	3	1	27	1	0	0	0	0	1	0	0	0	16864	1435	50	5	129	5	UBE2NL	23	142967329	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	1971493	142967329	12303231	8722	32673											
FMR1	2332	broad.mit.edu	37	chrX	147027084	147027084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactcccgaacagataatcGtccacgtaatccaagagagg	8	12	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:147027084G>A	uc010nst.2	+	16	1874	c.1685G>A	c.(1684-1686)CGT>CAT	p.R562H	FMR1_uc004fcj.2_Missense_Mutation_p.R539H|FMR1_uc004fck.3_Missense_Mutation_p.R516H|FMR1_uc004fcl.3_Missense_Mutation_p.R402H|FMR1_uc011mxa.1_Missense_Mutation_p.R209H	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	562	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGATAATCGTCCACGTAAT	0.388									Fragile_X_syndrome				A	147027084	G	A	147027084	3	1	27	1	0	0	0	0	1	0	0	0	5960	1145	40	1	1747	1	FMR1	23	147027084	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	4059755	147027084	8243476	8723	32674											
AFF2	2334	broad.mit.edu	37	chrX	148037982	148037982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacctgaaaaacctctggGtgaagattgaccttgactta	9	8	1	6			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:148037982G>A	uc004fcp.2	+	11	2886	c.2407G>A	c.(2407-2409)GTG>ATG	p.V803M	AFF2_uc004fcq.2_Missense_Mutation_p.V793M|AFF2_uc004fcr.2_Missense_Mutation_p.V764M|AFF2_uc011mxb.1_Missense_Mutation_p.V768M|AFF2_uc004fcs.2_Missense_Mutation_p.V770M|AFF2_uc011mxc.1_Missense_Mutation_p.V444M	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	803					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					AAACCTCTGGGTGAAGATTGA	0.483													A	148037982	G	A	148037982	3	1	27	1	0	0	0	0	1	0	0	0	357	1261	44	4	2504	4	AFF2	23	148037982	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	1010898	148037982	7232578	8724	32675											
AFF2	2334	broad.mit.edu	37	chrX	148068943	148068943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaacgtctcccccatcaacGcaatggggaactgtaacaat	7	13	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:148068943G>A	uc004fcp.2	+	20	4149	c.3670G>A	c.(3670-3672)GCA>ACA	p.A1224T	AFF2_uc004fcq.2_Missense_Mutation_p.A1214T|AFF2_uc004fcr.2_Missense_Mutation_p.A1185T|AFF2_uc011mxb.1_Missense_Mutation_p.A1189T|AFF2_uc004fcs.2_Missense_Mutation_p.A1189T|AFF2_uc011mxc.1_Missense_Mutation_p.A865T	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1224					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCATCAACGCAATGGGGAA	0.527													A	148068943	G	A	148068943	3	1	27	1	0	0	0	0	1	0	0	0	357	1087	38	1	3803	1	AFF2	23	148068943	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	30961	148068943	7201617	8725	32676											
AFF2	2334	broad.mit.edu	37	chrX	148072815	148072815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccaatcttgtccgctacGttcgccaaggactgtgttgg	11	11	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:148072815G>A	uc004fcp.2	+	21	4368	c.3889G>A	c.(3889-3891)GTT>ATT	p.V1297I	AFF2_uc004fcq.2_Missense_Mutation_p.V1287I|AFF2_uc004fcr.2_Missense_Mutation_p.V1258I|AFF2_uc011mxb.1_Missense_Mutation_p.V1262I|AFF2_uc004fcs.2_Missense_Mutation_p.V1262I|AFF2_uc011mxc.1_Missense_Mutation_p.V938I	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1297					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCCGCTACGTTCGCCAAGG	0.527													A	148072815	G	A	148072815	3	1	27	1	0	0	0	0	1	0	0	0	357	1145	40	1	4026	1	AFF2	23	148072815	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	3872	148072815	7197745	8726	32677											
TMEM185A	84548	broad.mit.edu	37	chrX	148690318	148690318	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatatgaaatctcacctctAgtgacctgtcatgtcgaaag	7	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:148690318A>G	uc011mxq.1	-	4	730	c.419T>C	c.(418-420)CTA>CCA	p.L140P	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Missense_Mutation_p.L81P|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc004fdp.3_Missense_Mutation_p.L57P	NM_032508	NP_115897	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	140						integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCTCACCTCTAGTGACCTGTC	0.313													G	148690318	A	G	148690318	3	3	27	1	0	0	0	0	1	0	0	0	16104	420	15	3	653	3	TMEM185A	23	148690318	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	617503	148690318	6580242	8727	32678											
MAGEA11	4110	broad.mit.edu	37	chrX	148797265	148797265	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcacttcctttttcaggTttttagagaacaggccaacc	6	11	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:148797265T>G	uc004fdq.2	+	4	296	c.194T>G	c.(193-195)GTT>GGT	p.V65G	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.V36G	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	65						cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTTTTTCAGGTTTTTAGAGAA	0.527													G	148797265	T	G	148797265	3	3	27	1	0	0	0	0	1	0	0	0	9165	1739	60	5	217	5	MAGEA11	23	148797265	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	106947	148797265	6473295	8728	32679											
MAMLD1	10046	broad.mit.edu	37	chrX	149631037	149631037	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagcctactctcacccccaGggaaagaagccctcgtggat	9	15	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:149631037G>T	uc004fee.1	+	2	173	c.97_splice	c.e2-1	p.G33_splice	MAMLD1_uc011mxt.1_Splice_Site|MAMLD1_uc011mxu.1_Intron|MAMLD1_uc011mxv.1_Intron	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1						male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					CTCACCCCCAGGGAAAGAAGC	0.483													T	149631037	G	T	149631037	5	4	27	1	0	0	0	0	0	0	1	0	9208	1014	35	5	102	5	MAMLD1	23	149631037	Splice_Site	SNP	G	TCGA-BR-6452-01A-12D-1800-08	833772	149631037	5639523	8729	32680											
MAMLD1	10046	broad.mit.edu	37	chrX	149638867	149638867	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggactctctccaccttaccGcccagtgccatcaccacacc	5	20	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:149638867G>T	uc004fee.1	+	3	1098	c.1022G>T	c.(1021-1023)CGC>CTC	p.R341L	MAMLD1_uc011mxt.1_Missense_Mutation_p.R303L|MAMLD1_uc011mxu.1_Missense_Mutation_p.R316L|MAMLD1_uc011mxv.1_Missense_Mutation_p.R316L|MAMLD1_uc011mxw.1_Missense_Mutation_p.R268L	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	341					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					CCACCTTACCGCCCAGTGcca	0.468													T	149638867	G	T	149638867	3	4	27	1	0	0	0	0	1	0	0	0	9208	1087	38	5	1032	5	MAMLD1	23	149638867	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	7830	149638867	5631693	8730	32681											
MTM1	4534	broad.mit.edu	37	chrX	149814303	149814303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaaatttctaaactcaccAtttatgatgcaagacccagc	4	11	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:149814303A>G	uc004fef.3	+	9	902	c.826A>G	c.(826-828)ATT>GTT	p.I276V	MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.I239V|MTM1_uc011mxz.1_Missense_Mutation_p.I161V|MTM1_uc010nte.2_Missense_Mutation_p.I144V	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	276	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TAAACTCACCATTTATGATGC	0.408													G	149814303	A	G	149814303	3	3	27	1	0	0	0	0	1	0	0	0	9937	217	8	3	856	3	MTM1	23	149814303	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	175436	149814303	5456257	8731	32682											
CNGA2	1260	broad.mit.edu	37	chrX	150907014	150907014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caataatcacaaccatcatgCacctcctgccatcaaggcca	4	16	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:150907014C>T	uc004fey.1	+	2	283	c.59C>T	c.(58-60)GCA>GTA	p.A20V		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	20	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					AACCATCATGCACCTCCTGCC	0.517													T	150907014	C	T	150907014	3	4	27	1	0	0	0	0	1	0	0	0	3597	710	25	2	61	2	CNGA2	23	150907014	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1092711	150907014	4363546	8732	32683											
CNGA2	1260	broad.mit.edu	37	chrX	150911846	150911846	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatccactggaatgccTgcatctattatgccatctcc	5	14	4	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:150911846T>C	uc004fey.1	+	7	1095	c.871T>C	c.(871-873)TGC>CGC	p.C291R		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	291	Helical; Name=H4; (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAATGCCTGCATCTATTA	0.493													C	150911846	T	C	150911846	3	2	27	1	0	0	0	0	1	0	0	0	3597	1580	55	3	893	3	CNGA2	23	150911846	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	4832	150911846	4358714	8733	32684											
MAGEA4	4103	broad.mit.edu	37	chrX	151092384	151092384	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcttcacttgctggaggcAacccaatgagggttccagca	11	12	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:151092384A>G	uc004fez.2	+	3	404	c.248A>G	c.(247-249)CAA>CGA	p.Q83R	MAGEA4_uc004ffa.2_Missense_Mutation_p.Q83R|MAGEA4_uc004ffb.2_Missense_Mutation_p.Q83R|MAGEA4_uc004ffc.2_Missense_Mutation_p.Q83R|MAGEA4_uc004ffd.2_Missense_Mutation_p.Q83R	NM_002362	NP_002353	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	83							protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGGAGGCAACCCAATGAG	0.587													G	151092384	A	G	151092384	3	3	27	1	0	0	0	0	1	0	0	0	9168	130	5	3	250	3	MAGEA4	23	151092384	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	180538	151092384	4178176	8734	32685											
MAGEA10	4109	broad.mit.edu	37	chrX	151303862	151303862	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggatttggtgtctcatcAtcagcagaaacctcctctgg	11	10	4	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:151303862A>G	uc004ffk.2	-	5	639	c.231T>C	c.(229-231)GAT>GAC	p.D77D	MAGEA10_uc004ffl.2_Silent_p.D77D	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	77											0	Acute lymphoblastic leukemia(192;6.56e-05)					GTGTCTCATCATCAGCAGAAA	0.398													G	151303862	A	G	151303862	2	3	27	1	0	0	0	0	0	0	0	1	9164	214	8	3		3	MAGEA10	23	151303862	Silent	SNP	A	TCGA-BR-6452-01A-12D-1800-08	211478	151303862	3966698	8735	32686											
GABRA3	2556	broad.mit.edu	37	chrX	151366166	151366166	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacgacacttgtgacagaatGacagtcatgatacatggcaa	9	8	1	4			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:151366166G>A	uc010ntk.1	-	8	1110	c.870C>T	c.(868-870)GTC>GTT	p.V290V		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	290	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTGACAGAATGACAGTCATGA	0.443													A	151366166	G	A	151366166	2	1	27	1	0	0	0	0	0	0	0	1	6162	1277	45	4		4	GABRA3	23	151366166	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	62304	151366166	3904394	8736	32687											
MAGEA12	4111	broad.mit.edu	37	chrX	151900642	151900642	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttggtgactcggcagcaggCacctcccgcagggtgacttc	13	14	0	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:151900642C>A	uc010ntp.2	-	3	513	c.159G>T	c.(157-159)GTG>GTT	p.V53V	MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Silent_p.V53V|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	53										skin(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					CGGCAGCAGGCACCTCCCGCA	0.617													A	151900642	C	A	151900642	2	1	27	1	0	0	0	0	0	0	0	1	9166	697	25	5		5	MAGEA12	23	151900642	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	534476	151900642	3369918	8737	32688											
CETN2	1069	broad.mit.edu	37	chrX	151997191	151997191	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagagcttgaaagctttcaGgatttcttctttagtatctt	7	6	4	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:151997191G>T	uc004fgq.2	-	4	366	c.319C>A	c.(319-321)CTG>ATG	p.L107M	CETN2_uc004fgr.2_Missense_Mutation_p.L36M|NSDHL_uc004fgt.1_5'Flank|NSDHL_uc004fgs.1_5'Flank	NM_004344	NP_004335	P41208	CETN2_HUMAN	caltractin	107	EF-hand 3.				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding				0	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGCTTTCAGGATTTCTTCT	0.433								Direct_reversal_of_damage|NER					T	151997191	G	T	151997191	3	4	27	1	0	0	0	0	1	0	0	0	3275	991	35	5	207	5	CETN2	23	151997191	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	96549	151997191	3273369	8738	32689											
NSDHL	50814	broad.mit.edu	37	chrX	152018925	152018925	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atccagcaagggtttgataaTccccaggtgcggttctttct	10	10	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:152018925T>A	uc004fgt.1	+	4	486	c.225T>A	c.(223-225)AAT>AAA	p.N75K	NSDHL_uc004fgs.1_Missense_Mutation_p.N75K	NM_001129765	NP_001123237	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	75					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity				0	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GGTTTGATAATCCCCAGGTGC	0.532													A	152018925	T	A	152018925	3	1	27	1	0	0	0	0	1	0	0	0	10670	1432	50	5	231	5	NSDHL	23	152018925	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	21734	152018925	3251635	8739	32690											
ZNF185	7739	broad.mit.edu	37	chrX	152128250	152128250	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tattcttcctcagcgtgttgActgattttgaggggaaggat	12	6	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:152128250A>T	uc010ntv.1	+	17	1451	c.1414A>T	c.(1414-1416)ACT>TCT	p.T472S	ZNF185_uc011myg.1_Missense_Mutation_p.T504S|ZNF185_uc011myh.1_Missense_Mutation_p.T475S|ZNF185_uc011myi.1_Missense_Mutation_p.T443S|ZNF185_uc011myj.1_Missense_Mutation_p.T413S|ZNF185_uc011myk.1_Missense_Mutation_p.T473S|ZNF185_uc004fgw.3_Missense_Mutation_p.T251S|ZNF185_uc004fgu.2_Missense_Mutation_p.T101S|ZNF185_uc004fgv.2_Missense_Mutation_p.T169S|ZNF185_uc004fgx.2_Missense_Mutation_p.T110S	NM_007150	NP_009081	O15231	ZN185_HUMAN	zinc finger protein 185	472						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCGTGTTGACTGATTTTGA	0.567													T	152128250	A	T	152128250	3	4	27	1	0	0	0	0	1	0	0	0	17749	275	10	5	1724	5	ZNF185	23	152128250	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	109325	152128250	3142310	8740	32691											
MAGEA1	4100	broad.mit.edu	37	chrX	152482523	152482523	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cataggagtggccggtggggTctgcttccttcacgtcaatg	14	10	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:152482523T>G	uc004fhf.2	-	3	708	c.488A>C	c.(487-489)GAC>GCC	p.D163A		NM_004988	NP_004979	P43355	MAGA1_HUMAN	melanoma antigen family A, 1	163	MAGE.			D->A: Abolishes HLA-A1 binding.		cytoplasm|plasma membrane				central_nervous_system(7)|ovary(1)|lung(1)|breast(1)	10	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCGGTGGGGTCTGCTTCCTT	0.507													G	152482523	T	G	152482523	3	3	27	1	0	0	0	0	1	0	0	0	9163	1667	58	5	445	5	MAGEA1	23	152482523	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	354273	152482523	2788037	8741	32692											
ATP2B3	492	broad.mit.edu	37	chrX	152814246	152814246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcattggtgtcactgtGctggtcgtggctgtcccaga	12	10	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:152814246G>A	uc004fht.1	+	8	1398	c.1272G>A	c.(1270-1272)GTG>GTA	p.V424V	ATP2B3_uc004fhs.1_Silent_p.V424V	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	424	Helical; (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGTCACTGTGCTGGTCGTGG	0.488													A	152814246	G	A	152814246	2	1	27	1	0	0	0	0	0	0	0	1	1141	1306	46	2		2	ATP2B3	23	152814246	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	331723	152814246	2456314	8742	32693											
ATP2B3	492	broad.mit.edu	37	chrX	152821585	152821585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacaacatcaacacggccCgggccatcgcagccaaatgc	11	15	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:152821585C>T	uc004fht.1	+	12	2263	c.2137C>T	c.(2137-2139)CGG>TGG	p.R713W	ATP2B3_uc004fhs.1_Missense_Mutation_p.R713W	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	713	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAACACGGCCCGGGCCATCGC	0.587													T	152821585	C	T	152821585	3	4	27	1	0	0	0	0	1	0	0	0	1141	643	23	1	2183	1	ATP2B3	23	152821585	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	7339	152821585	2448975	8743	32694											
SLC6A8	6535	broad.mit.edu	37	chrX	152958731	152958731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctaggtgtggatagatgCggggacccagattttctttt	12	7	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:152958731C>T	uc004fib.3	+	6	1204	c.926C>T	c.(925-927)GCG>GTG	p.A309V	SLC6A8_uc004fic.3_Missense_Mutation_p.A309V|SLC6A8_uc011myx.1_Missense_Mutation_p.A194V|SLC6A8_uc010nuj.2_RNA	NM_005629	NP_005620	P48029	SC6A8_HUMAN	solute carrier family 6 member 8 isoform 1	309	Helical; (Potential).				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TGGATAGATGCGGGGACCCAG	0.622													T	152958731	C	T	152958731	3	4	27	1	0	0	0	0	1	0	0	0	14690	768	27	1	948	1	SLC6A8	23	152958731	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	137146	152958731	2311829	8744	32695											
ABCD1	215	broad.mit.edu	37	chrX	152991452	152991452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccggcacagcctggccctCggccatcgccggcctcgtgg	14	18	0	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:152991452C>T	uc004fif.2	+	1	1130	c.731C>T	c.(730-732)TCG>TTG	p.S244L	BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank	NM_000033	NP_000024	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member	244	ABC transmembrane type-1.|Helical; (Potential).				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGGCCCTCGGCCATCGCC	0.697													T	152991452	C	T	152991452	3	4	27	1	0	0	0	0	1	0	0	0	60	893	31	1	733	1	ABCD1	23	152991452	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	32721	152991452	2279108	8745	32696											
PDZD4	57595	broad.mit.edu	37	chrX	153095697	153095697	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgccggcggccctacctgCagcatcactttgtactgctc	10	16	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:153095697C>T	uc004fiz.1	-	1	307	c.57G>A	c.(55-57)CTG>CTA	p.L19L	PDZD4_uc004fiy.1_5'Flank|PDZD4_uc004fix.2_5'UTR|PDZD4_uc004fja.1_Silent_p.L19L|PDZD4_uc011mze.1_Silent_p.L19L	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	19						cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					gcccTACCTGCAGCATCACTT	0.527													T	153095697	C	T	153095697	2	4	27	1	0	0	0	0	0	0	0	1	11703	697	25	2		2	PDZD4	23	153095697	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	104245	153095697	2174863	8746	32697											
L1CAM	3897	broad.mit.edu	37	chrX	153130918	153130918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtggatatgtctcttgCtgtgcttcctctgactgccc	9	12	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:153130918C>T	uc004fjb.2	-	20	2693	c.2585G>A	c.(2584-2586)AGC>AAC	p.S862N	L1CAM_uc004fjc.2_Missense_Mutation_p.S862N|L1CAM_uc010nuo.2_Missense_Mutation_p.S857N	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	862	Extracellular (Potential).|Fibronectin type-III 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGTCTCTTGCTGTGCTTCCT	0.612													T	153130918	C	T	153130918	3	4	27	1	0	0	0	0	1	0	0	0	8588	797	28	2	1224	2	L1CAM	23	153130918	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	35221	153130918	2139642	8747	32698											
L1CAM	3897	broad.mit.edu	37	chrX	153132191	153132191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactttgatctcatagggcaCgaaggtggacgtgttggaca	14	7	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:153132191C>T	uc004fjb.2	-	18	2452	c.2344G>A	c.(2344-2346)GTG>ATG	p.V782M	L1CAM_uc004fjc.2_Missense_Mutation_p.V782M|L1CAM_uc010nuo.2_Missense_Mutation_p.V777M	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	782	Extracellular (Potential).|Fibronectin type-III 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCATAGGGCACGAAGGTGGAC	0.622													T	153132191	C	T	153132191	3	4	27	1	0	0	0	0	1	0	0	0	8588	536	19	1	1473	1	L1CAM	23	153132191	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1273	153132191	2138369	8748	32699											
L1CAM	3897	broad.mit.edu	37	chrX	153133891	153133891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcgattgtgctgcggggCccctgagtgatctgagttgc	14	10	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:153133891C>T	uc004fjb.2	-	13	1677	c.1569G>A	c.(1567-1569)GGG>GGA	p.G523G	L1CAM_uc004fjc.2_Silent_p.G523G|L1CAM_uc010nuo.2_Silent_p.G518G|L1CAM_uc004fjd.1_Silent_p.G337G	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	523	Ig-like C2-type 6.|Extracellular (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGCGGGGCCCCTGAGTGA	0.617													T	153133891	C	T	153133891	2	4	27	1	0	0	0	0	0	0	0	1	8588	726	26	2		2	L1CAM	23	153133891	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	1700	153133891	2136669	8749	32700											
L1CAM	3897	broad.mit.edu	37	chrX	153136295	153136295	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgaatgatggtcctggtgCctgggaagtgggcgtggcag	18	7	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:153136295C>A	uc004fjb.2	-	6	752	c.644G>T	c.(643-645)GGC>GTC	p.G215V	L1CAM_uc004fjc.2_Missense_Mutation_p.G215V|L1CAM_uc010nuo.2_Missense_Mutation_p.G210V|L1CAM_uc004fjd.1_Missense_Mutation_p.G29V|L1CAM_uc004fje.1_Missense_Mutation_p.G210V	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	215	Extracellular (Potential).|Ig-like C2-type 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTCCTGGTGCCTGGGAAGTG	0.582													A	153136295	C	A	153136295	3	1	27	1	0	0	0	0	1	0	0	0	8588	739	26	5	3221	5	L1CAM	23	153136295	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	2404	153136295	2134265	8750	32701											
AVPR2	554	broad.mit.edu	37	chrX	153171979	153171979	+	Missense_Mutation	SNP	G	G	A													gatcctccacctccacagggGcgccctttgtgctactcatg					rs145953185	byFrequency	TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:153171979G>A	uc004fjh.3	+	3	984	c.913G>A	c.(913-915)GCG>ACG	p.A305T	AVPR2_uc004fjg.3_Missense_Mutation_p.A94T|AVPR2_uc004fji.2_3'UTR	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	305	Extracellular (Potential).				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTCCACAGGGGCGCCCTTTGT	0.622													A	153171979	G	A	153171979	3	1	27	1	0	0	0	0	1	0	0	0	1233	1203	42	2	943	2	AVPR2	23	153171979	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	35684	153171979	2098581	8751	32702	110	2									
AVPR2	554	broad.mit.edu	37	chrX	153171981	153171981	+	Silent	SNP	G	G	A													tcctccacctccacaggggcGccctttgtgctactcatgtt							TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:153171981G>A	uc004fjh.3	+	3	986	c.915G>A	c.(913-915)GCG>GCA	p.A305A	AVPR2_uc004fjg.3_Silent_p.A94A|AVPR2_uc004fji.2_3'UTR	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	305	Extracellular (Potential).				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCACAGGGGCGCCCTTTGTGC	0.622													A	153171981	G	A	153171981	2	1	27	1	0	0	0	0	0	0	0	1	1233	1074	38	1		1	AVPR2	23	153171981	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	2	153171981	2098579	8752	32703	110	2									
RENBP	5973	broad.mit.edu	37	chrX	153209857	153209857	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcctgcagagtctctcgcTctttctccatgtcctagggg	11	13	3	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:153209857T>G	uc004fjo.1	-	2	211	c.41A>C	c.(40-42)GAG>GCG	p.E14A	RENBP_uc011mzh.1_Missense_Mutation_p.E14A|RENBP_uc011mzi.1_5'Flank	NM_002910	NP_002901	P51606	RENBP_HUMAN	renin binding protein	14					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			ovary(1)|pancreas(1)	2	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	AGTCTCTCGCTCTTTCTCCAT	0.657													G	153209857	T	G	153209857	3	3	27	1	0	0	0	0	1	0	0	0	13225	1551	54	5	1282	5	RENBP	23	153209857	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	37876	153209857	2060703	8753	32704											
MECP2	4204	broad.mit.edu	37	chrX	153295906	153295906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgaaacaatgtctttgCgctctccctcccctcggtgt	9	13	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:153295906C>T	uc004fjv.2	-	4	1599	c.1373G>A	c.(1372-1374)CGC>CAC	p.R458H	MECP2_uc004fjw.2_Missense_Mutation_p.R470H	NM_004992	NP_004983	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 1	458					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AATGTCTTTGCGCTCTCCCTC	0.612													T	153295906	C	T	153295906	3	4	27	1	0	0	0	0	1	0	0	0	9423	768	27	1	91	1	MECP2	23	153295906	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	86049	153295906	1974654	8754	32705											
MECP2	4204	broad.mit.edu	37	chrX	153298000	153298000	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtcctggtcttctgacTtttcttccctgaagtgttaa	10	9	3	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:153298000T>C	uc004fjv.2	-	3	261	c.35A>G	c.(34-36)AAG>AGG	p.K12R	MECP2_uc004fjw.2_Missense_Mutation_p.K24R	NM_004992	NP_004983	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 1	12					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCTTCTGACTTTTCTTCCCT	0.478													C	153298000	T	C	153298000	3	2	27	1	0	0	0	0	1	0	0	0	9423	1609	56	3	1433	3	MECP2	23	153298000	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	2094	153298000	1972560	8755	32706											
TKTL1	8277	broad.mit.edu	37	chrX	153533696	153533696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcttctgagatcatgtctGtgctgttcttctacatcatg	8	9	7	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:153533696G>A	uc004fkg.2	+	2	361	c.175G>A	c.(175-177)GTG>ATG	p.V59M	TKTL1_uc011mzl.1_Missense_Mutation_p.V53M|TKTL1_uc011mzm.1_Missense_Mutation_p.V59M|TKTL1_uc004fkh.2_Missense_Mutation_p.V3M	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	59					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GATCATGTCTGTGCTGTTCTT	0.512													A	153533696	G	A	153533696	3	1	27	1	0	0	0	0	1	0	0	0	15932	1377	48	4	181	4	TKTL1	23	153533696	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	235696	153533696	1736864	8756	32707											
FLNA	2316	broad.mit.edu	37	chrX	153579955	153579955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcggtgcctcacctgaagGctagaaacagtgaggcggcg	14	11	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:153579955G>A	uc004fkk.2	-	43	7266	c.7017C>T	c.(7015-7017)AGC>AGT	p.S2339S	FLNA_uc004fki.2_Silent_p.S382S|FLNA_uc011mzn.1_Silent_p.S472S|FLNA_uc010nuu.1_Silent_p.S2331S	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	2339	Filamin 22.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCACCTGAAGGCTAGAAACAG	0.627													A	153579955	G	A	153579955	2	1	27	1	0	0	0	0	0	0	0	1	5933	1194	42	2		2	FLNA	23	153579955	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	46259	153579955	1690605	8757	32708											
RPL10	6134	broad.mit.edu	37	chrX	153626864	153626864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatcctggtgtcgccatgGgccgccgccccgcccgttgg	14	16	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:153626864G>A	uc004fkm.2	+	2	192	c.4G>A	c.(4-6)GGC>AGC	p.G2S	uc010nuv.1_5'UTR|RPL10_uc004fko.2_Missense_Mutation_p.G2S|RPL10_uc004fkn.1_Missense_Mutation_p.G2S|RPL10_uc004fkp.1_Missense_Mutation_p.G2S|RPL10_uc004fkq.1_5'Flank|RPL10_uc004fkr.1_5'Flank|SNORA70_uc010nux.1_5'Flank	NM_006013	NP_006004	P27635	RL10_HUMAN	ribosomal protein L10	2					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTCGCCATGGGCCGCCGCCC	0.562													A	153626864	G	A	153626864	3	1	27	1	0	0	0	0	1	0	0	0	13554	1232	43	4	6	4	RPL10	23	153626864	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	46909	153626864	1643696	8758	32709											
PLXNA3	55558	broad.mit.edu	37	chrX	153696426	153696426	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctctctccaccccccagcTtttgcagagctgcagacgga	8	18	1	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:153696426T>C	uc004flm.2	+	22	3995	c.3822T>C	c.(3820-3822)GCT>GCC	p.A1274A		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	1274	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCCCCCAGCTTTTGCAGAGC	0.622													C	153696426	T	C	153696426	2	2	27	1	0	0	0	0	0	0	0	1	12121	1623	56	3		3	PLXNA3	23	153696426	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	69562	153696426	1574134	8759	32710											
PLXNA3	55558	broad.mit.edu	37	chrX	153699468	153699468	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgccgctgcgcttctgggTgaatgtgatcaagaacccgc	12	13	2	3			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:153699468T>C	uc004flm.2	+	31	5350	c.5177T>C	c.(5176-5178)GTG>GCG	p.V1726A		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	1726	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCTTCTGGGTGAATGTGATC	0.592													C	153699468	T	C	153699468	3	2	27	1	0	0	0	0	1	0	0	0	12121	1696	59	3	5295	3	PLXNA3	23	153699468	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	3042	153699468	1571092	8760	32711											
SLC10A3	8273	broad.mit.edu	37	chrX	153717218	153717218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttaagggacctgtgccaCcaccctcgccccccagacca	8	19	0	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:153717218C>T	uc004flq.2	-	3	326	c.62G>A	c.(61-63)GGT>GAT	p.G21D	UBL4A_uc004flo.2_5'Flank|SLC10A3_uc004flr.2_Missense_Mutation_p.G21D|SLC10A3_uc004flp.2_Missense_Mutation_p.G21D	NM_001142392	NP_001135864	P09131	P3_HUMAN	solute carrier family 10, member 3 isoform 1	21					organic anion transport	integral to membrane	bile acid:sodium symporter activity			ovary(1)|skin(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCTGTGCCACCACCCTCGCC	0.652													T	153717218	C	T	153717218	3	4	27	1	0	0	0	0	1	0	0	0	14375	507	18	4	1375	4	SLC10A3	23	153717218	Missense_Mutation	SNP	C	TCGA-BR-6452-01A-12D-1800-08	17750	153717218	1553342	8761	32712											
GAB3	139716	broad.mit.edu	37	chrX	153940895	153940895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaggggagcggctgcagGcagtcaacaaaaacatcatc	13	10	2	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:153940895G>A	uc004fmj.1	-	4	723	c.675C>T	c.(673-675)TGC>TGT	p.C225C	GAB3_uc004fmk.1_Silent_p.C226C|GAB3_uc010nve.1_Silent_p.C226C|GAB3_uc004fml.1_Intron	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN	Gab3 protein isoform 2	225										ovary(1)	1	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCGGCTGCAGGCAGTCAACAA	0.542													A	153940895	G	A	153940895	2	1	27	1	0	0	0	0	0	0	0	1	6150	1195	42	2		2	GAB3	23	153940895	Silent	SNP	G	TCGA-BR-6452-01A-12D-1800-08	223677	153940895	1329665	8762	32713											
GAB3	139716	broad.mit.edu	37	chrX	153941521	153941521	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtctcgcagttggacaaaAccagataatctggaaggaag	11	8	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:153941521A>C	uc004fmj.1	-	3	602	c.554T>G	c.(553-555)GTT>GGT	p.V185G	GAB3_uc004fmk.1_Missense_Mutation_p.V186G|GAB3_uc010nve.1_Missense_Mutation_p.V186G|GAB3_uc004fml.1_5'UTR	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN	Gab3 protein isoform 2	185										ovary(1)	1	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTTGGACAAAACCAGATAATC	0.512													C	153941521	A	C	153941521	3	2	27	1	0	0	0	0	1	0	0	0	6150	43	2	5	1238	5	GAB3	23	153941521	Missense_Mutation	SNP	A	TCGA-BR-6452-01A-12D-1800-08	626	153941521	1329039	8763	32714											
MPP1	4354	broad.mit.edu	37	chrX	154009926	154009926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcttatggatctggtgCactgtttcaaatttggtgcc	10	8	3	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:154009926C>T	uc004fmp.1	-	10	1213	c.1098G>A	c.(1096-1098)GTG>GTA	p.V366V	MPP1_uc010nvg.1_Silent_p.V346V|MPP1_uc011mzv.1_Silent_p.V336V|MPP1_uc004fmq.1_Silent_p.V320V|MPP1_uc011mzw.1_Silent_p.V349V	NM_002436	NP_002427	Q00013	EM55_HUMAN	palmitoylated membrane protein 1	366	Guanylate kinase-like.|Interaction with MPP5.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGATCTGGTGCACTGTTTCAA	0.507													T	154009926	C	T	154009926	2	4	27	1	0	0	0	0	0	0	0	1	9733	697	25	2		2	MPP1	23	154009926	Silent	SNP	C	TCGA-BR-6452-01A-12D-1800-08	68405	154009926	1260634	8764	32715											
F8	2157	broad.mit.edu	37	chrX	154130417	154130417	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaattccagctttggatggTaacatttccactgtctcaaa	6	10	1	0			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:154130417T>C	uc004fmt.2	-	19	6195	c.6024A>G	c.(6022-6024)TTA>TTG	p.L2008L	F8_uc010nvi.1_Intron	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	2008	F5/8 type A 3.|Plastocyanin-like 6.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTTTGGATGGTAACATTTCCA	0.398													C	154130417	T	C	154130417	2	2	27	1	0	0	0	0	0	0	0	1	5350	1635	57	3		3	F8	23	154130417	Silent	SNP	T	TCGA-BR-6452-01A-12D-1800-08	120491	154130417	1140143	8765	32716											
F8	2157	broad.mit.edu	37	chrX	154158736	154158736	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagaacgacatatctggaTtttgtgcatctggtggaatg	11	5	2	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:154158736T>G	uc004fmt.2	-	14	3500	c.3329A>C	c.(3328-3330)AAT>ACT	p.N1110T		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1110	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CATATCTGGATTTTGTGCATC	0.418													G	154158736	T	G	154158736	3	3	27	1	0	0	0	0	1	0	0	0	5350	1493	52	5	3806	5	F8	23	154158736	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	28319	154158736	1111824	8766	32717											
VBP1	7411	broad.mit.edu	37	chrX	154448586	154448586	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcaaaagaaaagaaggTaagtgtaaaaatttctaagt	8	3	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:154448586T>C	uc004fnc.2	+	2	277	c.218_splice	c.e2+2	p.R73_splice	VBP1_uc004fnd.2_Splice_Site_p.R36_splice	NM_003372	NP_003363	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1						'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAAAAGAAGGTAAGTGTAAAA	0.249													C	154448586	T	C	154448586	5	2	27	1	0	0	0	0	0	0	1	0	17133	1652	57	3	226	3	VBP1	23	154448586	Splice_Site	SNP	T	TCGA-BR-6452-01A-12D-1800-08	289850	154448586	821974	8767	32718											
TMLHE	55217	broad.mit.edu	37	chrX	154741379	154741379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcagtgtgccgatccagaGctagcttggtgtacgcagtg	14	9	1	1			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:154741379G>A	uc004fnn.2	-	5	879	c.713C>T	c.(712-714)GCT>GTT	p.A238V	TMLHE_uc004fno.2_Missense_Mutation_p.A238V|TMLHE_uc004fnp.3_Missense_Mutation_p.A238V	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	238					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			ovary(1)	1	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	CCGATCCAGAGCTAGCTTGGT	0.423													A	154741379	G	A	154741379	3	1	27	1	0	0	0	0	1	0	0	0	16229	971	34	2	708	2	TMLHE	23	154741379	Missense_Mutation	SNP	G	TCGA-BR-6452-01A-12D-1800-08	292793	154741379	529181	8768	32719											
IL9R	3581	broad.mit.edu	37	chrX	155227444	155227444	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgggactgggcagatgcaTctgggaaggtgagtctgtgc	18	6	2	2			TCGA-BR-6452-01A-12D-1800-08	TCGA-BR-6452-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e961b4-e324-40a2-89f6-736ec3845bc9	0f603726-fdae-4738-9e1c-f387a61d8e84	g.chrX:155227444T>C	uc004fnv.1	+	1	199	c.20T>C	c.(19-21)ATC>ACC	p.I7T	IL9R_uc010nvn.2_5'UTR|IL9R_uc004fnu.1_Silent_p.H12H	NM_002186	NP_002177	Q01113	IL9R_HUMAN	interleukin 9 receptor precursor	7					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGCAGATGCATCTGGGAAGGT	0.557													C	155227444	T	C	155227444	3	2	27	1	0	0	0	0	1	0	0	0	7708	1435	50	3	22	3	IL9R	23	155227444	Missense_Mutation	SNP	T	TCGA-BR-6452-01A-12D-1800-08	486065	155227444	43116	8769	32720											
CLCNKB	1188	broad.mit.edu	37	chr1	16377482	16377482	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacccccagcacctgtggtGggaatggtaccacccgcggt	13	15	0	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr1:16377482G>A	uc001axw.3	+	12	1246	c.1166G>A	c.(1165-1167)TGG>TAG	p.W389*	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Nonsense_Mutation_p.W389*|CLCNKB_uc001axy.3_Nonsense_Mutation_p.W220*	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	389					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CACCTGTGGTGGGAATGGTAC	0.632													A	16377482	G	A	16377482	4	1	28	1	0	0	0	0	0	1	0	0	3470	1357	47	4	1356	4	CLCNKB	1	16377482	Nonsense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08		16377482	232873139	1	32721											
EPHA2	1969	broad.mit.edu	37	chr1	16464906	16464906	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctctcagatgcctcaaacttAaaaaatccaggcgagcaggc	8	12	2	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr1:16464906A>T	uc001aya.1	-	4	980	c.843T>A	c.(841-843)TTT>TTA	p.F281L	EPHA2_uc010oca.1_Missense_Mutation_p.F281L	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	281	Extracellular (Potential).|Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CCTCAAACTTAAAAAATCCAG	0.572													T	16464906	A	T	16464906	3	4	28	1	0	0	0	0	1	0	0	0	5167	359	13	5	2143	5	EPHA2	1	16464906	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	87424	16464906	232785715	2	32722											
CLIC4	25932	broad.mit.edu	37	chr1	25124240	25124240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgttttccaggctggcaGtgatggtgaaagcataggaa	13	6	1	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr1:25124240G>A	uc001bjo.2	+	2	365	c.80G>A	c.(79-81)AGT>AAT	p.S27N	CLIC4_uc001bjn.2_RNA|CLIC4_uc001bjp.1_Intron	NM_013943	NP_039234	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	27	Required for insertion into the membrane (Probable).				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		CAGGCTGGCAGTGATGGTGAA	0.378													A	25124240	G	A	25124240	3	1	28	1	0	0	0	0	1	0	0	0	3528	1029	36	4	86	4	CLIC4	1	25124240	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	8659334	25124240	224126381	3	32723											
SPOCD1	90853	broad.mit.edu	37	chr1	32265646	32265646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcagggtccgagctggggtCgccaagggccagggaaccgc	18	12	0	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr1:32265646C>T	uc001bts.1	-	5	1757	c.1699G>A	c.(1699-1701)GAC>AAC	p.D567N	SPOCD1_uc001btt.2_5'Flank|SPOCD1_uc001btu.2_Missense_Mutation_p.D567N|SPOCD1_uc001btv.2_Missense_Mutation_p.D60N|SPOCD1_uc001btw.1_5'Flank	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	567					transcription, DNA-dependent					ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GAGCTGGGGTCGCCAAGGGCC	0.632													T	32265646	C	T	32265646	3	4	28	1	0	0	0	0	1	0	0	0	15077	884	31	1	1999	1	SPOCD1	1	32265646	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	7141406	32265646	216984975	4	32724											
TRIT1	54802	broad.mit.edu	37	chr1	40307584	40307584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggatttggattttatgtgCgctgataagacaaaatcaaa	10	4	1	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr1:40307584C>T	uc010oiz.1	-	11	1250	c.1236G>A	c.(1234-1236)GCG>GCA	p.A412A	TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_Silent_p.A108A|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Silent_p.A166A|TRIT1_uc001ceh.3_Silent_p.A166A|TRIT1_uc009vvv.2_Silent_p.A245A|TRIT1_uc001cei.3_Silent_p.A166A|TRIT1_uc001ceq.2_Silent_p.A108A|TRIT1_uc001cek.2_Silent_p.A108A|TRIT1_uc009vvx.2_RNA|TRIT1_uc001cel.2_RNA|TRIT1_uc001cem.2_Silent_p.A330A|TRIT1_uc001cen.2_Silent_p.A166A|TRIT1_uc001ceo.2_Silent_p.A166A|TRIT1_uc001cep.2_Silent_p.A166A	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1 precursor	412	Matrin-type.				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			ovary(1)	1	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ATTTTATGTGCGCTGATAAGA	0.348													T	40307584	C	T	40307584	2	4	28	1	0	0	0	0	0	0	0	1	16557	782	27	1		1	TRIT1	1	40307584	Silent	SNP	C	TCGA-BR-6453-01A-11D-1800-08	8041938	40307584	208943037	5	32725											
CYP4A22	284541	broad.mit.edu	37	chr1	47609043	47609043	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaagagtgccttcagccatCagggcagcatccaggtggac	13	11	2	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr1:47609043C>T	uc001cqv.1	+	5	664	c.613C>T	c.(613-615)CAG>TAG	p.Q205*	CYP4A22_uc009vyo.2_Nonsense_Mutation_p.Q205*|CYP4A22_uc009vyp.2_Nonsense_Mutation_p.Q205*	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A,	205						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			skin(2)|ovary(1)|breast(1)	4						CTTCAGCCATCAGGGCAGCAT	0.572													T	47609043	C	T	47609043	4	4	28	1	0	0	0	0	0	1	0	0	4184	827	29	4	631	4	CYP4A22	1	47609043	Nonsense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	7301459	47609043	201641578	6	32726											
FAM159A	348378	broad.mit.edu	37	chr1	53099190	53099190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgcctgcacgagctacGtgagcgcagagcaggaggtg	18	11	0	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr1:53099190G>A	uc001cuf.2	+	1	125	c.25G>A	c.(25-27)GTG>ATG	p.V9M	FAM159A_uc001cug.1_RNA|FAM159A_uc001cuh.2_RNA	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN	hypothetical protein LOC348378	9						integral to membrane					0						CACGAGCTACGTGAGCGCAGA	0.622													A	53099190	G	A	53099190	3	1	28	1	0	0	0	0	1	0	0	0	5468	1145	40	1	27	1	FAM159A	1	53099190	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	5490147	53099190	196151431	7	32727											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507160	74507160	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatctgttttgccaaacTtgtcgtaaactgttctgaat	7	7	2	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr1:74507160T>G	uc001dfy.3	-	7	1647	c.1455A>C	c.(1453-1455)CAA>CAC	p.Q485H	LRRIQ3_uc001dfz.3_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	485										ovary(2)	2						TTTGCCAAACTTGTCGTAAAC	0.323													G	74507160	T	G	74507160	3	3	28	1	0	0	0	0	1	0	0	0	9030	1606	56	5	427	5	LRRIQ3	1	74507160	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	21407970	74507160	174743461	8	32728											
ELTD1	64123	broad.mit.edu	37	chr1	79392711	79392711	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attttgaggtttcaataagaAgttgtcagatgatgaaagca	10	3	2	5			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr1:79392711A>C	uc001diq.3	-	8	1099	c.943T>G	c.(943-945)TTC>GTC	p.F315V		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	315	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTCAATAAGAAGTTGTCAGAT	0.318													C	79392711	A	C	79392711	3	2	28	1	0	0	0	0	1	0	0	0	5084	72	3	5	1161	5	ELTD1	1	79392711	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	4885551	79392711	169857910	9	32729											
ELTD1	64123	broad.mit.edu	37	chr1	79403793	79403793	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaacatacttacagtaagagTtgagttagaaagggtgtcct	11	5	0	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr1:79403793T>A	uc001diq.3	-	5	724	c.568A>T	c.(568-570)ACT>TCT	p.T190S		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	190	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ACAGTAAGAGTTGAGTTAGAA	0.308													A	79403793	T	A	79403793	3	1	28	1	0	0	0	0	1	0	0	0	5084	1725	60	5	1548	5	ELTD1	1	79403793	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	11082	79403793	169846828	10	32730											
LPHN2	23266	broad.mit.edu	37	chr1	82416057	82416057	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attccacctataacaaatatTtttcccctgccagagagatt	4	11	0	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr1:82416057T>G	uc001dit.3	+	7	1564	c.1383T>G	c.(1381-1383)ATT>ATG	p.I461M	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.I461M|LPHN2_uc001div.2_Missense_Mutation_p.I461M|LPHN2_uc009wcd.2_Missense_Mutation_p.I461M|LPHN2_uc001diw.2_Missense_Mutation_p.I32M	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	461	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TAACAAATATTTTTCCCCTGC	0.473													G	82416057	T	G	82416057	3	3	28	1	0	0	0	0	1	0	0	0	8916	1829	64	5	1401	5	LPHN2	1	82416057	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	3012264	82416057	166834564	11	32731											
HFM1	164045	broad.mit.edu	37	chr1	91851178	91851178	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actgaaaaagatggtgctttGaacatgccttctccgatttc	8	9	1	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr1:91851178G>T	uc001doa.3	-	5	808	c.708C>A	c.(706-708)TTC>TTA	p.F236L	HFM1_uc010osu.1_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.F236L	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	236							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATGGTGCTTTGAACATGCCTT	0.338													T	91851178	G	T	91851178	3	4	28	1	0	0	0	0	1	0	0	0	7083	1281	45	5	3739	5	HFM1	1	91851178	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	9435121	91851178	157399443	12	32732											
COL11A1	1301	broad.mit.edu	37	chr1	103345385	103345385	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgacagtggtaggtgaAattttgccgagcagaggcag	15	6	0	4			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr1:103345385A>C	uc001dul.2	-	66	5446	c.5128T>G	c.(5128-5130)TTC>GTC	p.F1710V	COL11A1_uc001duk.2_Missense_Mutation_p.F906V|COL11A1_uc001dum.2_Missense_Mutation_p.F1722V|COL11A1_uc001dun.2_Missense_Mutation_p.F1671V|COL11A1_uc009weh.2_Missense_Mutation_p.F1594V	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1710	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGTAGGTGAAATTTTGCCGA	0.428													C	103345385	A	C	103345385	3	2	28	1	0	0	0	0	1	0	0	0	3667	14	1	5	300	5	COL11A1	1	103345385	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	11494207	103345385	145905236	13	32733											
CELSR2	1952	broad.mit.edu	37	chr1	109794410	109794410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggctgctgaactggaccGggaggaagttgatttctaca	14	7	1	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr1:109794410G>A	uc001dxa.3	+	1	1770	c.1709G>A	c.(1708-1710)CGG>CAG	p.R570Q		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	570	Cadherin 4.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GAACTGGACCGGGAGGAAGTT	0.572													A	109794410	G	A	109794410	3	1	28	1	0	0	0	0	1	0	0	0	3222	1116	39	1	1711	1	CELSR2	1	109794410	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	6449025	109794410	139456211	14	32734											
SMG5	23381	broad.mit.edu	37	chr1	156246933	156246933	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcactgcagttccagctggtAgtgggactggatatagagaa	14	7	0	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr1:156246933A>T	uc001foc.3	-	4	546	c.397T>A	c.(397-399)TAC>AAC	p.Y133N		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	133					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					TCCAGCTGGTAGTGGGACTGG	0.542													T	156246933	A	T	156246933	3	4	28	1	0	0	0	0	1	0	0	0	14796	420	15	5	2729	5	SMG5	1	156246933	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	46452523	156246933	93003688	15	32735											
CD1E	913	broad.mit.edu	37	chr1	158324361	158324361	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agccctggtcccatggaaacTtcagcaagcaggagctgaaa	11	11	1	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr1:158324361T>G	uc001fse.2	+	2	492	c.253T>G	c.(253-255)TTC>GTC	p.F85V	CD1E_uc010pid.1_Missense_Mutation_p.F83V|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Missense_Mutation_p.F85V|CD1E_uc001fsk.2_Missense_Mutation_p.F85V|CD1E_uc001fsj.2_Missense_Mutation_p.F85V|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.F85V|CD1E_uc001fry.2_Missense_Mutation_p.F85V|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Missense_Mutation_p.F85V|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Missense_Mutation_p.F85V|CD1E_uc009wsw.2_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	85					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					CCATGGAAACTTCAGCAAGCA	0.498													G	158324361	T	G	158324361	3	3	28	1	0	0	0	0	1	0	0	0	2978	1609	56	5	259	5	CD1E	1	158324361	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	2077428	158324361	90926260	16	32736											
OR10Z1	128368	broad.mit.edu	37	chr1	158576489	158576489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctctctggcctggctggGggggaccaggctatctccta	14	12	2	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr1:158576489G>A	uc010pio.1	+	1	261	c.261G>A	c.(259-261)GGG>GGA	p.G87G		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	87	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					GCCTGGCTGGGGGGGACCAGG	0.547													A	158576489	G	A	158576489	2	1	28	1	0	0	0	0	0	0	0	1	10923	1219	43	4		4	OR10Z1	1	158576489	Silent	SNP	G	TCGA-BR-6453-01A-11D-1800-08	252128	158576489	90674132	17	32737											
PTPRC	5788	broad.mit.edu	37	chr1	198711490	198711490	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagagatgcctgatggttcaAgtagaggtatgttctaacct	11	7	2	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr1:198711490A>T	uc001gur.1	+	25	2865	c.2685A>T	c.(2683-2685)CAA>CAT	p.Q895H	PTPRC_uc001gus.1_Missense_Mutation_p.Q847H|PTPRC_uc001gut.1_Missense_Mutation_p.Q734H	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	895	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.	Substrate (By similarity).			axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						TGATGGTTCAAGTAGAGGTAT	0.363													T	198711490	A	T	198711490	3	4	28	1	0	0	0	0	1	0	0	0	12797	69	3	5	2790	5	PTPRC	1	198711490	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	40135001	198711490	50539131	18	32738											
FMOD	2331	broad.mit.edu	37	chr1	203311556	203311556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatctcgttcccgtccaggCgcagcacctgcagcttggag	12	14	1	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr1:203311556C>T	uc001gzr.2	-	3	1182	c.1046G>A	c.(1045-1047)CGC>CAC	p.R349H	FMOD_uc010pqi.1_RNA	NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	349	LRR 11.				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.171)			CCCGTCCAGGCGCAGCACCTG	0.647											OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	203311556	C	T	203311556	3	4	28	1	0	0	0	0	1	0	0	0	5959	768	27	1	88	1	FMOD	1	203311556	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	4600066	203311556	45939065	19	32739											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220345380	220345380	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agactgagaatcccaggtctCatcgatggccactataggga	11	10	1	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr1:220345380C>T	uc010puk.1	-	23	2592	c.2428G>A	c.(2428-2430)GAG>AAG	p.E810K	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.E390K	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	810					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)		TCCCAGGTCTCATCGATGGCC	0.433													T	220345380	C	T	220345380	3	4	28	1	0	0	0	0	1	0	0	0	12936	835	29	4	1805	4	RAB3GAP2	1	220345380	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	17033824	220345380	28905241	20	32740											
ERO1LB	56605	broad.mit.edu	37	chr1	236399099	236399099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaacctacctcggctaggCgccagaggatttaaaggacg	11	10	0	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr1:236399099C>T	uc001hxt.2	-	8	919	c.663G>A	c.(661-663)GCG>GCA	p.A221A		NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	endoplasmic reticulum oxidoreductin 1-Lbeta	221					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding				0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CTCGGCTAGGCGCCAGAGGAT	0.289													T	236399099	C	T	236399099	2	4	28	1	0	0	0	0	0	0	0	1	5240	755	27	1		1	ERO1LB	1	236399099	Silent	SNP	C	TCGA-BR-6453-01A-11D-1800-08	16053719	236399099	12851522	21	32741											
FMN2	56776	broad.mit.edu	37	chr1	240256759	240256759	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaggcggccggaaccctcCctgagccgagggtccagaac	14	14	0	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr1:240256759C>A	uc010pyd.1	+	1	1575	c.1350C>A	c.(1348-1350)TCC>TCA	p.S450S	FMN2_uc010pye.1_Silent_p.S450S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	450					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGAACCCTCCCTGAGCCGAG	0.697													A	240256759	C	A	240256759	2	1	28	1	0	0	0	0	0	0	0	1	5950	610	22	5		5	FMN2	1	240256759	Silent	SNP	C	TCGA-BR-6453-01A-11D-1800-08	3857660	240256759	8993862	22	32742											
FMN2	56776	broad.mit.edu	37	chr1	240555824	240555824	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagccaaaattgaccaAgaggcagaggaaaattcact	8	9	2	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr1:240555824A>G	uc010pyd.1	+	15	5097	c.4872A>G	c.(4870-4872)CAA>CAG	p.Q1624Q	FMN2_uc010pye.1_Silent_p.Q1628Q|FMN2_uc010pyf.1_Silent_p.Q239Q|FMN2_uc010pyg.1_Silent_p.Q220Q	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1624	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAATTGACCAAGAGGCAGAGG	0.343													G	240555824	A	G	240555824	2	3	28	1	0	0	0	0	0	0	0	1	5950	69	3	3		3	FMN2	1	240555824	Silent	SNP	A	TCGA-BR-6453-01A-11D-1800-08	299065	240555824	8694797	23	32743											
MYT1L	23040	broad.mit.edu	37	chr2	1893207	1893207	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcctctgcttgttcatgcTgaggtccagggtcccgttct	12	13	3	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr2:1893207T>C	uc002qxe.2	-	16	3153	c.2326A>G	c.(2326-2328)AGC>GGC	p.S776G	MYT1L_uc002qxd.2_Missense_Mutation_p.S774G|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	776					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTGTTCATGCTGAGGTCCAGG	0.592													C	1893207	T	C	1893207	3	2	28	1	0	0	0	0	1	0	0	0	10107	1580	55	3	1274	3	MYT1L	2	1893207	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08		1893207	241306166	24	32744											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10912687	10912687	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaccaaactactcacaatggCaaaaaacctacgaatctctc	4	13	2	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr2:10912687C>G	uc002ras.2	+	8	698	c.589C>G	c.(589-591)CAA>GAA	p.Q197E	ATP6V1C2_uc002rat.2_Missense_Mutation_p.Q197E	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	vacuolar H+ ATPase C2 isoform a	197					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CTCACAATGGCAAAAAACCTA	0.512													G	10912687	C	G	10912687	3	3	28	1	0	0	0	0	1	0	0	0	1181	711	25	5	615	5	ATP6V1C2	2	10912687	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	9019480	10912687	232286686	25	32745											
CENPO	79172	broad.mit.edu	37	chr2	25040575	25040575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacttcatgggaggagcaacGagcatctcatgaaactctgt	10	10	3	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr2:25040575G>A	uc002rfo.1	+	7	992	c.803G>A	c.(802-804)CGA>CAA	p.R268Q	CENPO_uc002rfp.1_Missense_Mutation_p.R262Q|CENPO_uc002rfq.1_Missense_Mutation_p.R268Q	NM_024322	NP_077298	Q9BU64	CENPO_HUMAN	centromere protein O	268					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GAGGAGCAACGAGCATCTCAT	0.443													A	25040575	G	A	25040575	3	1	28	1	0	0	0	0	1	0	0	0	3239	1058	37	1	825	1	CENPO	2	25040575	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	14127888	25040575	218158798	26	32746											
OTX1	5013	broad.mit.edu	37	chr2	63283145	63283145	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgcagctcatacctagcGcccatgcactcacatcacca	6	17	3	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr2:63283145G>A	uc002scd.2	+	5	1007	c.759G>A	c.(757-759)GCG>GCA	p.A253A	OTX1_uc010ypt.1_Silent_p.A187A	NM_014562	NP_055377	P32242	OTX1_HUMAN	orthodenticle homeobox 1	253						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(2)	2	Lung NSC(7;0.121)|all_lung(7;0.211)					CATACCTAGCGCCCATGCACT	0.637													A	63283145	G	A	63283145	2	1	28	1	0	0	0	0	0	0	0	1	11320	1074	38	1		1	OTX1	2	63283145	Silent	SNP	G	TCGA-BR-6453-01A-11D-1800-08	38242570	63283145	179916228	27	32747											
ALMS1	7840	broad.mit.edu	37	chr2	73800417	73800417	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagtatgcttgtcacccagaCgaattaaattatatagcagc	8	8	1	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr2:73800417C>G	uc002sje.1	+	18	11527	c.11416C>G	c.(11416-11418)CGA>GGA	p.R3806G	ALMS1_uc002sjf.1_Missense_Mutation_p.R3762G|ALMS1_uc002sjg.2_Missense_Mutation_p.R3192G|ALMS1_uc002sjh.1_Missense_Mutation_p.R3192G	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3804					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						GTCACCCAGACGAATTAAATT	0.468													G	73800417	C	G	73800417	3	3	28	1	0	0	0	0	1	0	0	0	535	528	19	5	11472	5	ALMS1	2	73800417	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	10517272	73800417	169398956	28	32748											
CTNNA2	1496	broad.mit.edu	37	chr2	80646693	80646693	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgaaagaatatgcccaAgttttccgtgagcatgccaa	10	8	0	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr2:80646693A>C	uc010ysh.1	+	8	1262	c.1257A>C	c.(1255-1257)CAA>CAC	p.Q419H	CTNNA2_uc010yse.1_Missense_Mutation_p.Q419H|CTNNA2_uc010ysf.1_Missense_Mutation_p.Q419H|CTNNA2_uc010ysg.1_Missense_Mutation_p.Q419H|CTNNA2_uc010ysi.1_Missense_Mutation_p.Q51H	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	419					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						AATATGCCCAAGTTTTCCGTG	0.443													C	80646693	A	C	80646693	3	2	28	1	0	0	0	0	1	0	0	0	4013	69	3	5	1079	5	CTNNA2	2	80646693	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	6846276	80646693	162552680	29	32749											
PCDP1	200373	broad.mit.edu	37	chr2	120385314	120385314	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcgcccaaggaggtgctGcccttcgctttcccagactg	12	14	0	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr2:120385314G>T	uc002tmb.2	+	17	1836	c.744G>T	c.(742-744)CTG>CTT	p.L248L	PCDP1_uc010yyq.1_Silent_p.L378L	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	primary ciliary dyskinesia protein 1	534						cilium	calmodulin binding				0	Colorectal(110;0.196)					AGGAGGTGCTGCCCTTCGCTT	0.547													T	120385314	G	T	120385314	2	4	28	1	0	0	0	0	0	0	0	1	11572	1306	46	5		5	PCDP1	2	120385314	Silent	SNP	G	TCGA-BR-6453-01A-11D-1800-08	39738621	120385314	122814059	30	32750											
LRP1B	53353	broad.mit.edu	37	chr2	141201953	141201953	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttgcccattacatcttaAgtttactgggatacatttct	5	9	3	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr2:141201953A>G	uc002tvj.1	-	65	11212	c.10240T>C	c.(10240-10242)TTA>CTA	p.L3414L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3414	Extracellular (Potential).|LDL-receptor class A 23.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTACATCTTAAGTTTACTGGG	0.398										TSP Lung(27;0.18)			G	141201953	A	G	141201953	2	3	28	1	0	0	0	0	0	0	0	1	8955	69	3	3		3	LRP1B	2	141201953	Silent	SNP	A	TCGA-BR-6453-01A-11D-1800-08	20816639	141201953	101997420	31	32751											
LRP1B	53353	broad.mit.edu	37	chr2	141250226	141250226	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctaattttccttatcTcatgatgatcagcaagaatt	6	8	2	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr2:141250226T>C	uc002tvj.1	-	57	10043	c.9071A>G	c.(9070-9072)GAG>GGG	p.E3024G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3024	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTCCTTATCTCATGATGATC	0.343										TSP Lung(27;0.18)			C	141250226	T	C	141250226	3	2	28	1	0	0	0	0	1	0	0	0	8955	1551	54	3	4868	3	LRP1B	2	141250226	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	48273	141250226	101949147	32	32752											
ACVR2A	92	broad.mit.edu	37	chr2	148653912	148653912	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactcaggagtgtcttttctTtaatgctaattgggaaaaag	9	5	3	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr2:148653912T>G	uc002twg.2	+	3	367	c.98T>G	c.(97-99)TTT>TGT	p.F33C	ACVR2A_uc010zbn.1_Intron|ACVR2A_uc002twh.2_Missense_Mutation_p.F33C	NM_001616	NP_001607	P27037	AVR2A_HUMAN	activin A receptor, type IIA precursor	33	Extracellular (Potential).				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGTCTTTTCTTTAATGCTAAT	0.338													G	148653912	T	G	148653912	3	3	28	1	0	0	0	0	1	0	0	0	223	1841	64	5	104	5	ACVR2A	2	148653912	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	7403686	148653912	94545461	33	32753											
SCN1A	6323	broad.mit.edu	37	chr2	166893015	166893015	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcactaaatgagctcagaAgcaaggccagaaagagattc	10	9	1	4			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr2:166893015A>C	uc010zcz.1	-	16	2957	c.2939T>G	c.(2938-2940)CTT>CGT	p.L980R	SCN1A_uc002udo.3_Missense_Mutation_p.L860R|SCN1A_uc010fpk.2_Missense_Mutation_p.L832R	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	991	Helical; Name=S6 of repeat II; (By similarity).|II.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGAGCTCAGAAGCAAGGCCAG	0.373													C	166893015	A	C	166893015	3	2	28	1	0	0	0	0	1	0	0	0	13914	72	3	5	3101	5	SCN1A	2	166893015	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	18239103	166893015	76306358	34	32754											
TTN	7273	broad.mit.edu	37	chr2	179437107	179437107	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatagtagctacagccttcTtgaagctggtctaccttcca	7	11	2	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr2:179437107T>C	uc010zfg.1	-	275	66272	c.66048A>G	c.(66046-66048)CAA>CAG	p.Q22016Q	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.Q15711Q|TTN_uc010zfi.1_Silent_p.Q15644Q|TTN_uc010zfj.1_Silent_p.Q15519Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22943							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACAGCCTTCTTGAAGCTGGT	0.438													C	179437107	T	C	179437107	2	2	28	1	0	0	0	0	0	0	0	1	16732	1606	56	3		3	TTN	2	179437107	Silent	SNP	T	TCGA-BR-6453-01A-11D-1800-08	12544092	179437107	63762266	35	32755											
TTN	7273	broad.mit.edu	37	chr2	179472135	179472135	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caacattccttaccaaaaacTtctaccctggctgctgcaaa	4	14	1	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr2:179472135T>G	uc010zfg.1	-	226	45800	c.45576A>C	c.(45574-45576)GAA>GAC	p.E15192D	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E8887D|TTN_uc010zfi.1_Missense_Mutation_p.E8820D|TTN_uc010zfj.1_Missense_Mutation_p.E8695D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16119							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACCAAAAACTTCTACCCTGG	0.383													G	179472135	T	G	179472135	3	3	28	1	0	0	0	0	1	0	0	0	16732	1606	56	5	54757	5	TTN	2	179472135	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	35028	179472135	63727238	36	32756											
TTN	7273	broad.mit.edu	37	chr2	179635310	179635310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttttgatccactggacacCtttgacattagggtgtgtaa	9	7	0	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr2:179635310C>T	uc010zfg.1	-	35	8433	c.8209G>A	c.(8209-8211)GGT>AGT	p.G2737S	TTN_uc010zfh.1_Missense_Mutation_p.G2691S|TTN_uc010zfi.1_Missense_Mutation_p.G2691S|TTN_uc010zfj.1_Missense_Mutation_p.G2691S|TTN_uc002unb.2_Missense_Mutation_p.G2737S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2737							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGGACACCTTTGACATTA	0.403													T	179635310	C	T	179635310	3	4	28	1	0	0	0	0	1	0	0	0	16732	681	24	4	103091	4	TTN	2	179635310	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	163175	179635310	63564063	37	32757											
ZNF804A	91752	broad.mit.edu	37	chr2	185802505	185802505	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaatcatttaccagaagaAtttttgaggccaccaagtac	7	9	1	4			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr2:185802505A>C	uc002uph.2	+	4	2976	c.2382A>C	c.(2380-2382)GAA>GAC	p.E794D		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	794						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						TACCAGAAGAATTTTTGAGGC	0.383													C	185802505	A	C	185802505	3	2	28	1	0	0	0	0	1	0	0	0	18167	98	4	5	2396	5	ZNF804A	2	185802505	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	6167195	185802505	57396868	38	32758											
NAB1	4664	broad.mit.edu	37	chr2	191524263	191524263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaaaggagtagcaatgccCgggaacctcatttaaaaatc	9	8	1	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr2:191524263C>T	uc002usb.2	+	4	933	c.361C>T	c.(361-363)CGG>TGG	p.R121W	NAB1_uc010fsc.2_Missense_Mutation_p.R121W|NAB1_uc010fsd.2_Missense_Mutation_p.R121W|NAB1_uc002usc.2_Missense_Mutation_p.R121W|NAB1_uc010zgh.1_Missense_Mutation_p.R121W	NM_005966	NP_005957	Q13506	NAB1_HUMAN	NGFI-A binding protein 1	121					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			TAGCAATGCCCGGGAACCTCA	0.498													T	191524263	C	T	191524263	3	4	28	1	0	0	0	0	1	0	0	0	10131	643	23	1	363	1	NAB1	2	191524263	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	5721758	191524263	51675110	39	32759											
FEV	54738	broad.mit.edu	37	chr2	219846688	219846688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcggcatgagcgtgcgCgggcggcggctggcaggcct	22	12	0	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr2:219846688C>T	uc002vji.1	-	3	1000	c.418G>A	c.(418-420)GCG>ACG	p.A140T		NM_017521	NP_059991	Q99581	FEV_HUMAN	FEV (ETS oncogene family)	140	May mediate active transcriptional repression.|Ala-rich.				cell differentiation|nervous system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity		EWSR1/FEV(10)|FUS/FEV(2)	bone(10)|soft_tissue(2)	12		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGCGTGCGCGGGCGGCGGC	0.557			T	EWSR1| FUS	Ewing sarcoma								T	219846688	C	T	219846688	3	4	28	1	0	0	0	0	1	0	0	0	5822	768	27	1	302	1	FEV	2	219846688	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	28322425	219846688	23352685	40	32760											
PAX3	5077	broad.mit.edu	37	chr2	223085988	223085988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtctccgacagctggtacGttggcaaggtcggcatggca	15	10	1	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr2:223085988G>A	uc010fwo.2	-	6	1277	c.911C>T	c.(910-912)ACG>ATG	p.T304M	PAX3_uc002vmt.1_Missense_Mutation_p.T304M|PAX3_uc002vmy.1_Missense_Mutation_p.T303M|PAX3_uc002vmv.1_Missense_Mutation_p.T304M|PAX3_uc002vmw.1_Missense_Mutation_p.T304M|PAX3_uc002vmx.1_Missense_Mutation_p.T304M	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	304					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCTGGTACGTTGGCAAGGT	0.537			T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						A	223085988	G	A	223085988	3	1	28	1	0	0	0	0	1	0	0	0	11480	1145	40	1	654	1	PAX3	2	223085988	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	3239300	223085988	20113385	41	32761											
KCNH8	131096	broad.mit.edu	37	chr3	19432097	19432106	+	Frame_Shift_Del	DEL	TTTTGATCTT	TTTTGATCTT	-													gatttaatcgctgccctgccTtttgatcttctgtatgcttt					rs145629276		TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr3:19432096_19432105CTTTTGATCTT>C	uc003cbk.1	+	5	1130_1139	c.935_944CTTTTGATCTT>C	c.(934-945)ccttttgatcttfs	p.P312fs	KCNH8_uc011awe.1_Frame_Shift_Del_p.P312fs|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	312						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GCTGCCCTGCCTTTTGATCTTCTGTATGCT	0.414													-	19432106	TTTTGATCTT	-	19432097	7	5	28	1	0	1	0	1	0	0	0	0	8038	1596	56	0	958	0	KCNH8	3	19432097	Frame_Shift_Del	DEL	TTTTGATCTT	TCGA-BR-6453-01A-11D-1800-08		19432097	178590333	42	32762											
KCNH8	131096	broad.mit.edu	37	chr3	19575469	19575469	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttccttcagtctggaaaacTtaccaggatcttggaaccag	9	10	3	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr3:19575469T>G	uc003cbk.1	+	16	3397	c.3202T>G	c.(3202-3204)TTA>GTA	p.L1068V	KCNH8_uc010hex.1_Missense_Mutation_p.L529V	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	1068	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						TCTGGAAAACTTACCAGGATC	0.483													G	19575469	T	G	19575469	3	3	28	1	0	0	0	0	1	0	0	0	8038	1606	56	5	3264	5	KCNH8	3	19575469	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	143372	19575469	178446961	43	32763											
MYRIP	25924	broad.mit.edu	37	chr3	40275351	40275351	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgttatcggaccaaacagaAgttttctgctgtttctctct	7	10	3	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr3:40275351A>C	uc003cka.2	+	12	2042	c.1907A>C	c.(1906-1908)AAG>ACG	p.K636T	MYRIP_uc010hhu.2_Intron|MYRIP_uc010hhv.2_Intron|MYRIP_uc010hhw.2_Missense_Mutation_p.K547T|MYRIP_uc011ayz.1_Missense_Mutation_p.K449T|uc003ckb.2_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	636	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		ACCAAACAGAAGTTTTCTGCT	0.443													C	40275351	A	C	40275351	3	2	28	1	0	0	0	0	1	0	0	0	10100	86	3	5	1949	5	MYRIP	3	40275351	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	20699882	40275351	157747079	44	32764											
NBEAL2	23218	broad.mit.edu	37	chr3	47049917	47049917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagagctcagcgtgggaaCgtcctggggcccaggtatgg	16	10	1	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr3:47049917C>T	uc003cqp.2	+	51	8043	c.7864C>T	c.(7864-7866)CGT>TGT	p.R2622C	NBEAL2_uc010hjm.1_Missense_Mutation_p.R1999C|NBEAL2_uc010hjn.1_Missense_Mutation_p.R988C|NBEAL2_uc010hjo.1_Missense_Mutation_p.R182C	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2622							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGCGTGGGAACGTCCTGGGGC	0.607													T	47049917	C	T	47049917	3	4	28	1	0	0	0	0	1	0	0	0	10189	536	19	1	8066	1	NBEAL2	3	47049917	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	6774566	47049917	150972513	45	32765											
GRM2	2912	broad.mit.edu	37	chr3	51746766	51746766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcggagaaagtgggccGtgccatgagccgcgcggcct	15	14	0	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr3:51746766G>A	uc010hlv.2	+	3	967	c.728G>A	c.(727-729)CGT>CAT	p.R243H	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	243	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	AAAGTGGGCCGTGCCATGAGC	0.652													A	51746766	G	A	51746766	3	1	28	1	0	0	0	0	1	0	0	0	6797	1145	40	1	734	1	GRM2	3	51746766	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	4696849	51746766	146275664	46	32766											
PRICKLE2	166336	broad.mit.edu	37	chr3	64085187	64085187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgttgtcggagcgagagCgtcgggaacgcctggacctg	19	10	0	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr3:64085187C>T	uc003dmf.2	-	8	2661	c.2075G>A	c.(2074-2076)CGC>CAC	p.R692H		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	692	Arg-rich.					cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGAGCGAGAGCGTCGGGAACG	0.627													T	64085187	C	T	64085187	3	4	28	1	0	0	0	0	1	0	0	0	12487	768	27	1	463	1	PRICKLE2	3	64085187	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	12338421	64085187	133937243	47	32767											
ADAMTS9	56999	broad.mit.edu	37	chr3	64619467	64619467	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacactgttcatctcggaAgtctcgcttctgcttgagac	9	12	4	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr3:64619467A>C	uc003dmg.2	-	13	1977	c.1945T>G	c.(1945-1947)TTC>GTC	p.F649V	ADAMTS9_uc011bfo.1_Missense_Mutation_p.F621V|ADAMTS9_uc003dmh.1_Missense_Mutation_p.F478V|ADAMTS9_uc003dmk.1_Missense_Mutation_p.F649V	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	649	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCATCTCGGAAGTCTCGCTTC	0.443													C	64619467	A	C	64619467	3	2	28	1	0	0	0	0	1	0	0	0	273	72	3	5	3970	5	ADAMTS9	3	64619467	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	534280	64619467	133402963	48	32768											
CNTN3	5067	broad.mit.edu	37	chr3	74418456	74418456	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcaagcacaccactgaacTtccttaatttaattttgctg	4	10	1	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr3:74418456T>G	uc003dpm.1	-	7	910	c.830A>C	c.(829-831)AAG>ACG	p.K277T		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	277	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACCACTGAACTTCCTTAATTT	0.413													G	74418456	T	G	74418456	3	3	28	1	0	0	0	0	1	0	0	0	3642	1609	56	5	2320	5	CNTN3	3	74418456	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	9798989	74418456	123603974	49	32769											
EPHA3	2042	broad.mit.edu	37	chr3	89176408	89176408	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggagctgggctggatctcTtatccatcacatggggtgag	16	8	2	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr3:89176408T>C	uc003dqy.2	+	2	363	c.138T>C	c.(136-138)TCT>TCC	p.S46S	EPHA3_uc003dqx.1_Silent_p.S46S|EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	46	Extracellular (Potential).					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCTGGATCTCTTATCCATCAC	0.338										TSP Lung(6;0.00050)			C	89176408	T	C	89176408	2	2	28	1	0	0	0	0	0	0	0	1	5168	1596	56	3		3	EPHA3	3	89176408	Silent	SNP	T	TCGA-BR-6453-01A-11D-1800-08	14757952	89176408	108846022	50	32770											
STXBP5L	9515	broad.mit.edu	37	chr3	120764302	120764302	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccttggtcagtgcaagTtcagatgatacacttcattt	10	8	3	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr3:120764302T>G	uc003eec.3	+	5	530	c.390T>G	c.(388-390)AGT>AGG	p.S130R	STXBP5L_uc011bji.1_Missense_Mutation_p.S130R	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	130	WD 2.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		TCAGTGCAAGTTCAGATGATA	0.348													G	120764302	T	G	120764302	3	3	28	1	0	0	0	0	1	0	0	0	15356	1722	60	5	404	5	STXBP5L	3	120764302	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	31587894	120764302	77258128	51	32771											
STXBP5L	9515	broad.mit.edu	37	chr3	120977937	120977937	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggatatcaagcagaacTtgttattcaattggtgtggg	11	6	2	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr3:120977937T>G	uc003eec.3	+	18	2020	c.1880T>G	c.(1879-1881)CTT>CGT	p.L627R	STXBP5L_uc011bji.1_Missense_Mutation_p.L627R	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	627	WD 9.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		CAAGCAGAACTTGTTATTCAA	0.363													G	120977937	T	G	120977937	3	3	28	1	0	0	0	0	1	0	0	0	15356	1609	56	5	1946	5	STXBP5L	3	120977937	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	213635	120977937	77044493	52	32772											
RASA2	5922	broad.mit.edu	37	chr3	141305575	141305575	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcttaacaagcagagagctCacctaccacaaacagccagg	8	13	1	1	rs138963413		TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr3:141305575C>T	uc003etz.1	+	19	1914	c.1914C>T	c.(1912-1914)CTC>CTT	p.L638L	RASA2_uc010huq.1_Silent_p.L638L|RASA2_uc003eua.1_Silent_p.L638L|RASA2_uc011bnc.1_Silent_p.L230L	NM_006506	NP_006497	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	638	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			ovary(2)|lung(2)|breast(1)|skin(1)	6						GCAGAGAGCTCACCTACCACA	0.408													T	141305575	C	T	141305575	2	4	28	1	0	0	0	0	0	0	0	1	13061	813	29	4		4	RASA2	3	141305575	Silent	SNP	C	TCGA-BR-6453-01A-11D-1800-08	20327638	141305575	56716855	53	32773											
DHX36	170506	broad.mit.edu	37	chr3	153995437	153995437	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagccagttgtagtgaaagtCtgtttgctccacattaacag	9	8	1	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr3:153995437C>T	uc003ezy.3	-	23	2719	c.2638G>A	c.(2638-2640)GAC>AAC	p.D880N	DHX36_uc010hvq.2_Missense_Mutation_p.D866N|DHX36_uc003ezz.3_Missense_Mutation_p.D851N	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	880						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TAGTGAAAGTCTGTTTGCTCC	0.333													T	153995437	C	T	153995437	3	4	28	1	0	0	0	0	1	0	0	0	4509	913	32	4	400	4	DHX36	3	153995437	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	12689862	153995437	44026993	54	32774											
PPP2R2C	5522	broad.mit.edu	37	chr4	6335368	6335368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcccgggtgagcatgtagCggccgctgtggctgaacttc	15	11	0	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr4:6335368C>T	uc003gjc.2	-	7	1251	c.881G>A	c.(880-882)CGC>CAC	p.R294H	PPP2R2C_uc003gjb.2_Missense_Mutation_p.R277H|PPP2R2C_uc011bwd.1_Missense_Mutation_p.R287H|PPP2R2C_uc011bwe.1_Missense_Mutation_p.R287H|PPP2R2C_uc003gja.2_Missense_Mutation_p.R294H|PPP2R2C_uc003gjd.1_Missense_Mutation_p.R382H	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	294	WD 5.				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						GAGCATGTAGCGGCCGCTGTG	0.567											OREG0016071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	6335368	C	T	6335368	3	4	28	1	0	0	0	0	1	0	0	0	12386	768	27	1	474	1	PPP2R2C	4	6335368	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08		6335368	184818908	55	32775											
SLC34A2	10568	broad.mit.edu	37	chr4	25677985	25677985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgtcggggttcccgtcGtcttcatcatcatcctggta	11	11	4	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr4:25677985G>A	uc003grr.2	+	13	1768	c.1687G>A	c.(1687-1689)GTC>ATC	p.V563I	SLC34A2_uc003grs.2_Missense_Mutation_p.V562I|SLC34A2_uc010iev.2_Missense_Mutation_p.V562I	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	563	Helical; Name=M8; (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)				GGTTCCCGTCGTCTTCATCAT	0.602													A	25677985	G	A	25677985	3	1	28	1	0	0	0	0	1	0	0	0	14568	1145	40	1	1733	1	SLC34A2	4	25677985	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	19342617	25677985	165476291	56	32776											
EPHA5	2044	broad.mit.edu	37	chr4	66356149	66356149	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgggctcctgggctcaAgtcggacactccattcactg	11	15	2	0	rs142589245		TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr4:66356149A>G	uc003hcy.2	-	5	1541	c.1348T>C	c.(1348-1350)TTG>CTG	p.L450L	EPHA5_uc003hcx.2_Silent_p.L381L|EPHA5_uc003hcz.2_Silent_p.L450L|EPHA5_uc011cah.1_Silent_p.L450L|EPHA5_uc011cai.1_Silent_p.L450L|EPHA5_uc003hda.2_Silent_p.L450L	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	450	Fibronectin type-III 1.|Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						CCTGGGCTCAAGTCGGACACT	0.498										TSP Lung(17;0.13)			G	66356149	A	G	66356149	2	3	28	1	0	0	0	0	0	0	0	1	5170	69	3	3		3	EPHA5	4	66356149	Silent	SNP	A	TCGA-BR-6453-01A-11D-1800-08	40678164	66356149	124798127	57	32777											
UNC5C	8633	broad.mit.edu	37	chr4	96140209	96140209	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgccttgctagactctggTtcttcaggctgagggcttca	11	11	5	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr4:96140209T>G	uc003htp.1	-	9	1710	c.1556A>C	c.(1555-1557)AAC>ACC	p.N519T	UNC5C_uc010ilc.1_Missense_Mutation_p.N538T|UNC5C_uc003htq.2_Missense_Mutation_p.N538T	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	519	Cytoplasmic (Potential).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TAGACTCTGGTTCTTCAGGCT	0.522													G	96140209	T	G	96140209	3	3	28	1	0	0	0	0	1	0	0	0	16990	1725	60	5	1271	5	UNC5C	4	96140209	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	29784060	96140209	95014067	58	32778											
DDIT4L	115265	broad.mit.edu	37	chr4	101108874	101108874	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgttccaatcagtgagtaaAgttttttcttaacaagtcga	7	6	2	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr4:101108874A>G	uc003hvq.2	-	3	745	c.542T>C	c.(541-543)CTT>CCT	p.L181P		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	181					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		CAGTGAGTAAAGTTTTTTCTT	0.378													G	101108874	A	G	101108874	3	3	28	1	0	0	0	0	1	0	0	0	4332	72	3	3	43	3	DDIT4L	4	101108874	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	4968665	101108874	90045402	59	32779											
SEC24B	10427	broad.mit.edu	37	chr4	110447513	110447513	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtttaacagatacttccTtagtatgttttcaaacagcc	5	8	1	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr4:110447513T>G	uc003hzk.2	+	17	2978	c.2923T>G	c.(2923-2925)TTA>GTA	p.L975V	SEC24B_uc003hzl.2_Missense_Mutation_p.L940V|SEC24B_uc011cfp.1_Missense_Mutation_p.L1005V|SEC24B_uc011cfq.1_Missense_Mutation_p.L974V|SEC24B_uc011cfr.1_Missense_Mutation_p.L939V	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	975					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGATACTTCCTTAGTATGTTT	0.373													G	110447513	T	G	110447513	3	3	28	1	0	0	0	0	1	0	0	0	13995	1606	56	5	2989	5	SEC24B	4	110447513	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	9338639	110447513	80706763	60	32780											
NDST4	64579	broad.mit.edu	37	chr4	115898357	115898357	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttacctgtgtggtaaaacTtccctgaaaatccaaggttg	8	9	1	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr4:115898357T>G	uc003ibu.2	-	3	1731	c.1052A>C	c.(1051-1053)AAG>ACG	p.K351T	NDST4_uc010imw.2_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	351	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTGGTAAAACTTCCCTGAAAA	0.338													G	115898357	T	G	115898357	3	3	28	1	0	0	0	0	1	0	0	0	10258	1609	56	5	1614	5	NDST4	4	115898357	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	5450844	115898357	75255919	61	32781											
FAT4	79633	broad.mit.edu	37	chr4	126237573	126237573	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agggagccaggaccatggacTtagcaccagacagggctact	13	11	0	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr4:126237573T>G	uc003ifj.3	+	1	7	c.7T>G	c.(7-9)TTA>GTA	p.L3V		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GACCATGGACTTAGCACCAGA	0.512											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	126237573	T	G	126237573	3	3	28	1	0	0	0	0	1	0	0	0	5692	1606	56	5	9	5	FAT4	4	126237573	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	10339216	126237573	64916703	62	32782											
FAT4	79633	broad.mit.edu	37	chr4	126370493	126370493	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gataatgcccctaggttttcTcagatatttagtgcccatgt	8	9	1	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr4:126370493T>C	uc003ifj.3	+	9	8322	c.8322T>C	c.(8320-8322)TCT>TCC	p.S2774S	FAT4_uc011cgp.1_Silent_p.S1072S|FAT4_uc003ifi.1_Silent_p.S252S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2774	Cadherin 27.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CTAGGTTTTCTCAGATATTTA	0.383													C	126370493	T	C	126370493	2	2	28	1	0	0	0	0	0	0	0	1	5692	1538	54	3		3	FAT4	4	126370493	Silent	SNP	T	TCGA-BR-6453-01A-11D-1800-08	132920	126370493	64783783	63	32783											
TDO2	6999	broad.mit.edu	37	chr4	156838589	156838589	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttttcagttgctgacttcTcttatggacatagattcact	6	10	3	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr4:156838589T>C	uc003ipf.1	+	10	1003	c.939T>C	c.(937-939)TCT>TCC	p.S313S		NM_005651	NP_005642	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	313					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	TGCTGACTTCTCTTATGGACA	0.393													C	156838589	T	C	156838589	2	2	28	1	0	0	0	0	0	0	0	1	15724	1538	54	3		3	TDO2	4	156838589	Silent	SNP	T	TCGA-BR-6453-01A-11D-1800-08	30468096	156838589	34315687	64	32784											
FSTL5	56884	broad.mit.edu	37	chr4	162508614	162508614	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcacttcttaccattcacTtggaagatgtgagtctgata	7	8	4	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr4:162508614T>C	uc003iqh.2	-	8	1444	c.1008A>G	c.(1006-1008)CAA>CAG	p.Q336Q	FSTL5_uc003iqi.2_Silent_p.Q335Q|FSTL5_uc010iqv.2_Silent_p.Q335Q	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	336	Ig-like 1.					extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TACCATTCACTTGGAAGATGT	0.373													C	162508614	T	C	162508614	2	2	28	1	0	0	0	0	0	0	0	1	6080	1606	56	3		3	FSTL5	4	162508614	Silent	SNP	T	TCGA-BR-6453-01A-11D-1800-08	5670025	162508614	28645662	65	32785											
SPOCK3	50859	broad.mit.edu	37	chr4	167833778	167833778	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taggtgtctttacctgaaaaGagtaggtatgaccatctgaa	10	6	2	4			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr4:167833778G>A	uc003iri.1	-	6	617	c.476C>T	c.(475-477)TCT>TTT	p.S159F	SPOCK3_uc011cjp.1_Missense_Mutation_p.S156F|SPOCK3_uc011cjq.1_Missense_Mutation_p.S168F|SPOCK3_uc011cjr.1_Missense_Mutation_p.S39F|SPOCK3_uc003irj.1_Missense_Mutation_p.S156F|SPOCK3_uc011cjs.1_Missense_Mutation_p.S108F|SPOCK3_uc011cjt.1_Missense_Mutation_p.S67F|SPOCK3_uc011cju.1_Missense_Mutation_p.S52F|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.3_Missense_Mutation_p.S156F|SPOCK3_uc011cjw.1_Intron	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN	testican 3 isoform 2	159	Kazal-like.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TACCTGAAAAGAGTAGGTATG	0.413													A	167833778	G	A	167833778	3	1	28	1	0	0	0	0	1	0	0	0	15080	942	33	4	862	4	SPOCK3	4	167833778	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	5325164	167833778	23320498	66	32786											
TRIML1	339976	broad.mit.edu	37	chr4	189060646	189060646	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttactcaaaactgtaggaCggcagtgagggctttgctaa	12	7	1	1	rs146418787	by1000genomes	TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr4:189060646C>T	uc003izm.1	+	1	49	c.-66C>T	c.(-68--64)GACGG>GATGG			NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1						multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AACTGTAGGACGGCAGTGAGG	0.483													T	189060646	C	T	189060646	1	4	28	1	0	0	0	0	0	0	0	0	16547	551	19	1		1	TRIML1	4	189060646	Translation_Start_Site	SNP	C	TCGA-BR-6453-01A-11D-1800-08	21226868	189060646	2093630	67	32787											
CDH18	1016	broad.mit.edu	37	chr5	19473497	19473497	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaccctcataggcataAgtctgaagagagtcataagg	10	9	4	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr5:19473497A>G	uc003jgc.2	-	12	2588	c.2211T>C	c.(2209-2211)ACT>ACC	p.T737T	CDH18_uc003jgd.2_Silent_p.T737T|CDH18_uc011cnm.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	737	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CATAGGCATAAGTCTGAAGAG	0.483													G	19473497	A	G	19473497	2	3	28	1	0	0	0	0	0	0	0	1	3103	59	3	3		3	CDH18	5	19473497	Silent	SNP	A	TCGA-BR-6453-01A-11D-1800-08		19473497	161441763	68	32788											
CDH12	1010	broad.mit.edu	37	chr5	21755750	21755750	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatcaacgccccagtgctaAgtcctacaggtagaaaaatt	7	11	1	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr5:21755750A>G	uc010iuc.2	-	11	2293	c.1835T>C	c.(1834-1836)CTT>CCT	p.L612P	CDH12_uc011cno.1_Missense_Mutation_p.L572P|CDH12_uc003jgk.2_Missense_Mutation_p.L612P|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	612	Helical; (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						CCCAGTGCTAAGTCCTACAGG	0.348										HNSCC(59;0.17)			G	21755750	A	G	21755750	3	3	28	1	0	0	0	0	1	0	0	0	3098	72	3	3	557	3	CDH12	5	21755750	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	2282253	21755750	159159510	69	32789											
SPEF2	79925	broad.mit.edu	37	chr5	35763665	35763665	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atccatttctctggaaacagTtacacccaaaccaaaaacaa	3	12	1	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr5:35763665T>G	uc003jjo.2	+	26	3773	c.3662T>G	c.(3661-3663)GTT>GGT	p.V1221G	SPEF2_uc003jjp.1_Missense_Mutation_p.V707G	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1221					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGGAAACAGTTACACCCAAA	0.358													G	35763665	T	G	35763665	3	3	28	1	0	0	0	0	1	0	0	0	15034	1725	60	5	3785	5	SPEF2	5	35763665	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	14007915	35763665	145151595	70	32790											
EGFLAM	133584	broad.mit.edu	37	chr5	38425137	38425137	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacctgcacagcaatcaaaGccgactcctacatttgcctc	6	16	1	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr5:38425137G>T	uc003jlc.1	+	13	2077	c.1753G>T	c.(1753-1755)GCC>TCC	p.A585S	EGFLAM_uc003jlb.1_Missense_Mutation_p.A585S|EGFLAM_uc003jle.1_Missense_Mutation_p.A351S|EGFLAM_uc003jlf.1_5'UTR	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	585	EGF-like 2.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					AGCAATCAAAGCCGACTCCTA	0.478													T	38425137	G	T	38425137	3	4	28	1	0	0	0	0	1	0	0	0	4966	971	34	5	1817	5	EGFLAM	5	38425137	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	2661472	38425137	142490123	71	32791											
GHR	2690	broad.mit.edu	37	chr5	42689103	42689103	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagaacctaggacccatacAgctgttctataccagaaggt	8	10	1	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr5:42689103A>G	uc003jmt.2	+	4	291	c.248A>G	c.(247-249)CAG>CGG	p.Q83R	GHR_uc011cpq.1_Intron	NM_000163	NP_000154	P10912	GHR_HUMAN	growth hormone receptor precursor	83	Extracellular (Potential).				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			lung(4)|kidney(1)|skin(1)	6		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GGACCCATACAGCTGTTCTAT	0.463													G	42689103	A	G	42689103	3	3	28	1	0	0	0	0	1	0	0	0	6371	188	7	3	258	3	GHR	5	42689103	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	4263966	42689103	138226157	72	32792											
MARVELD2	153562	broad.mit.edu	37	chr5	68715518	68715518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccccgaatgggataagccGgtgtctgatatcaggtacat	12	9	2	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr5:68715518G>A	uc003jwq.2	+	2	365	c.306G>A	c.(304-306)CCG>CCA	p.P102P	MARVELD2_uc010ixf.2_Silent_p.P102P|MARVELD2_uc003jwr.1_Silent_p.P102P|MARVELD2_uc003jws.1_RNA	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2 isoform 1	102	Cytoplasmic (Potential).				sensory perception of sound	integral to membrane|tight junction					0		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		GGGATAAGCCGGTGTCTGATA	0.522													A	68715518	G	A	68715518	2	1	28	1	0	0	0	0	0	0	0	1	9318	1103	39	1		1	MARVELD2	5	68715518	Silent	SNP	G	TCGA-BR-6453-01A-11D-1800-08	26026415	68715518	112199742	73	32793											
KCNN2	3781	broad.mit.edu	37	chr5	113740388	113740388	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgcttttacatagcaaacTtttcactgatgcctcctcta	4	12	2	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr5:113740388T>G	uc003kqo.2	+	3	1293	c.836T>G	c.(835-837)CTT>CGT	p.L279R		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	279						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CATAGCAAACTTTTCACTGAT	0.378													G	113740388	T	G	113740388	3	3	28	1	0	0	0	0	1	0	0	0	8079	1609	56	5	846	5	KCNN2	5	113740388	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	45024870	113740388	67174872	74	32794											
PDLIM4	8572	broad.mit.edu	37	chr5	131606705	131606705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatatggacaaccccctcGctttccagtccctcacaatg	5	17	1	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr5:131606705G>A	uc003kwn.2	+	4	502	c.425G>A	c.(424-426)CGC>CAC	p.R142H	uc003kwm.3_Intron|PDLIM4_uc003kwp.2_Missense_Mutation_p.R142H|PDLIM4_uc003kwo.2_Missense_Mutation_p.R142H	NM_003687	NP_003678	P50479	PDLI4_HUMAN	PDZ and LIM domain 4 isoform 1	142							protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAACCCCCTCGCTTTCCAGTC	0.632													A	131606705	G	A	131606705	3	1	28	1	0	0	0	0	1	0	0	0	11682	1087	38	1	439	1	PDLIM4	5	131606705	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	17866317	131606705	49308555	75	32795											
KDM3B	51780	broad.mit.edu	37	chr5	137717277	137717277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataattcagcgcctcaaagcGaggtacagtaatggactgca	10	9	2	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr5:137717277G>A	uc003lcy.1	+	6	978	c.778G>A	c.(778-780)GAG>AAG	p.E260K	KDM3B_uc010jew.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	260					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						GCCTCAAAGCGAGGTACAGTA	0.433													A	137717277	G	A	137717277	3	1	28	1	0	0	0	0	1	0	0	0	8127	1059	37	1	800	1	KDM3B	5	137717277	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	6110572	137717277	43197983	76	32796											
PCDHB6	56130	broad.mit.edu	37	chr5	140532003	140532003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggcggcctcggtgggtcGctactcggtgcccgagggtc	18	13	0	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr5:140532003G>A	uc003lir.2	+	1	2165	c.2165G>A	c.(2164-2166)CGC>CAC	p.R722H	PCDHB6_uc011dah.1_Missense_Mutation_p.R586H	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	722	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGGGTCGCTACTCGGTG	0.652													A	140532003	G	A	140532003	3	1	28	1	0	0	0	0	1	0	0	0	11546	1087	38	1	2167	1	PCDHB6	5	140532003	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	2814726	140532003	40383257	77	32797											
PCDHGA8	9708	broad.mit.edu	37	chr5	140772818	140772818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaaaattaacgaaatcgcGgttcctggagcacgttatcc	9	9	0	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr5:140772818G>A	uc003lkd.1	+	1	1336	c.438G>A	c.(436-438)GCG>GCA	p.A146A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Silent_p.A146A	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	146	Extracellular (Potential).|Cadherin 2.				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)			ACGAAATCGCGGTTCCTGGAG	0.453													A	140772818	G	A	140772818	2	1	28	1	0	0	0	0	0	0	0	1	11560	1103	39	1		1	PCDHGA8	5	140772818	Silent	SNP	G	TCGA-BR-6453-01A-11D-1800-08	240815	140772818	40142442	78	32798											
GABRA6	2559	broad.mit.edu	37	chr5	161113274	161113274	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaactcgaagttgaaggcaActtctactcagaaaacgtca	8	9	3	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr5:161113274A>C	uc003lyu.2	+	2	415	c.77A>C	c.(76-78)AAC>ACC	p.N26T		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	26	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTTGAAGGCAACTTCTACTCA	0.478										TCGA Ovarian(5;0.080)			C	161113274	A	C	161113274	3	2	28	1	0	0	0	0	1	0	0	0	6165	43	2	5	83	5	GABRA6	5	161113274	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	20340456	161113274	19801986	79	32799											
FAM153B	202134	broad.mit.edu	37	chr5	175526047	175526047	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacaggcatccaaaccaaCggtacgtattctgggatcac	9	12	2	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr5:175526047C>T	uc003mdk.2	+	10	618	c.561C>T	c.(559-561)AAC>AAT	p.N187N		NM_001079529	NP_001072997	P0C7A2	F153B_HUMAN	hypothetical protein LOC202134	187										ovary(1)	1	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		TCCAAACCAACGGTACGTATT	0.448													T	175526047	C	T	175526047	2	4	28	1	0	0	0	0	0	0	0	1	5461	550	19	1		1	FAM153B	5	175526047	Silent	SNP	C	TCGA-BR-6453-01A-11D-1800-08	14412773	175526047	5389213	80	32800											
GRM6	2916	broad.mit.edu	37	chr5	178416042	178416042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcgcctggtgcatgctGtggagggcgtgggcaatggc	19	9	0	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr5:178416042G>A	uc003mjr.2	-	6	1427	c.1248C>T	c.(1246-1248)CAC>CAT	p.H416H	GRM6_uc010jla.1_Intron|GRM6_uc003mjs.1_Silent_p.H36H	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	416	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGTGCATGCTGTGGAGGGCGT	0.637													A	178416042	G	A	178416042	2	1	28	1	0	0	0	0	0	0	0	1	6801	1368	48	4		4	GRM6	5	178416042	Silent	SNP	G	TCGA-BR-6453-01A-11D-1800-08	2889995	178416042	2499218	81	32801											
ZNF311	282890	broad.mit.edu	37	chr6	28963238	28963238	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggattctctgatggatggtaAggcagtgcttatcttggaag	14	5	2	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr6:28963238A>T	uc003nlu.2	-	7	2054	c.1541T>A	c.(1540-1542)CTT>CAT	p.L514H	ZNF311_uc011dlk.1_Missense_Mutation_p.L422H|ZNF311_uc003nlv.2_Missense_Mutation_p.L422H	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	514	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						ATGGATGGTAAGGCAGTGCTT	0.463													T	28963238	A	T	28963238	3	4	28	1	0	0	0	0	1	0	0	0	17831	72	3	5	463	5	ZNF311	6	28963238	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08		28963238	142151829	82	32802											
OR12D2	26529	broad.mit.edu	37	chr6	29364723	29364723	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaaaatgctgcagaacTttctctctacacacaaagca	5	12	2	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr6:29364723T>G	uc003nmf.3	+	1	308	c.247T>G	c.(247-249)TTT>GTT	p.F83V		NM_013936	NP_039224	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D,	83	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GCTGCAGAACTTTCTCTCTAC	0.468													G	29364723	T	G	29364723	3	3	28	1	0	0	0	0	1	0	0	0	10931	1609	56	5	249	5	OR12D2	6	29364723	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	401485	29364723	141750344	83	32803											
C6orf134	79969	broad.mit.edu	37	chr6	30596123	30596123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaggagcgagtggaaccGcaccaactggcaattgaccg	13	11	0	2	rs139657037		TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr6:30596123G>A	uc003nqu.2	+	6	503	c.453G>A	c.(451-453)CCG>CCA	p.P151P	C6orf134_uc003nqr.3_Silent_p.P151P|C6orf134_uc003rdc.2_Silent_p.P151P|C6orf134_uc003nqs.3_Silent_p.P151P|C6orf134_uc003rdd.2_Silent_p.P151P|C6orf134_uc003nqt.2_RNA|C6orf134_uc011dmm.1_Silent_p.P139P|C6orf134_uc003nqv.2_Silent_p.P139P	NM_024909	NP_079185	Q5SQI0	ATAT_HUMAN	hypothetical protein LOC79969 isoform 2	151							tubulin N-acetyltransferase activity				0						GAGTGGAACCGCACCAACTGG	0.522													A	30596123	G	A	30596123	2	1	28	1	0	0	0	0	0	0	0	1	2330	1074	38	1		1	C6orf134	6	30596123	Silent	SNP	G	TCGA-BR-6453-01A-11D-1800-08	1231400	30596123	140518944	84	32804											
HLA-DOA	3111	broad.mit.edu	37	chr6	32975992	32975992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgaactggcccgaggcGccgtaagactggtagaaggc	17	9	0	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr6:32975992G>A	uc003ocr.2	-	2	205	c.129C>T	c.(127-129)GGC>GGT	p.G43G	HLA-DOA_uc010juj.2_Silent_p.G13G|HLA-DOA_uc010jui.2_Silent_p.G43G	NM_002119	NP_002110	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO	43	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0						GGCCCGAGGCGCCGTAAGACT	0.537													A	32975992	G	A	32975992	2	1	28	1	0	0	0	0	0	0	0	1	7200	1074	38	1		1	HLA-DOA	6	32975992	Silent	SNP	G	TCGA-BR-6453-01A-11D-1800-08	2379869	32975992	138139075	85	32805											
DNAH8	1769	broad.mit.edu	37	chr6	38919111	38919111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtcttggtgcccagaccGtactgtttttcaagcaagaa	10	9	2	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr6:38919111G>A	uc003ooe.1	+	80	12215	c.11615G>A	c.(11614-11616)CGT>CAT	p.R3872H	DNAH8_uc003oog.1_Missense_Mutation_p.R321H|uc003oof.1_Intron	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TGCCCAGACCGTACTGTTTTT	0.338													A	38919111	G	A	38919111	3	1	28	1	0	0	0	0	1	0	0	0	4607	1145	40	1	11925	1	DNAH8	6	38919111	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	5943119	38919111	132195956	86	32806											
MEP1A	4224	broad.mit.edu	37	chr6	46777187	46777187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaggagccattctgtatgCctttgagatgttccgtctca	9	9	2	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr6:46777187C>T	uc010jzh.1	+	6	335	c.293C>T	c.(292-294)GCC>GTC	p.A98V	MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwh.1_Missense_Mutation_p.A126V|MEP1A_uc011dwi.1_5'UTR	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	98	Extracellular (Potential).|Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)			ATTCTGTATGCCTTTGAGATG	0.363													T	46777187	C	T	46777187	3	4	28	1	0	0	0	0	1	0	0	0	9475	739	26	2	315	2	MEP1A	6	46777187	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	7858076	46777187	124337880	87	32807											
KHDRBS2	202559	broad.mit.edu	37	chr6	62757869	62757869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcaaggagtttcctcTtggtccaagcaatttcccca	6	14	3	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr6:62757869T>C	uc003peg.2	-	3	497	c.250A>G	c.(250-252)AGA>GGA	p.R84G		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	84	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		GAGTTTCCTCTTGGTCCAAGC	0.368													C	62757869	T	C	62757869	3	2	28	1	0	0	0	0	1	0	0	0	8147	1617	56	3	827	3	KHDRBS2	6	62757869	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	15980682	62757869	108357198	88	32808											
COL12A1	1303	broad.mit.edu	37	chr6	75838046	75838046	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgttagatggccaccatcTccatcttcataaacagcaat	5	13	3	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr6:75838046T>C	uc003phs.2	-	38	6472	c.6306A>G	c.(6304-6306)GGA>GGG	p.G2102G	COL12A1_uc003pht.2_Silent_p.G938G	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2102	Fibronectin type-III 16.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GGCCACCATCTCCATCTTCAT	0.378													C	75838046	T	C	75838046	2	2	28	1	0	0	0	0	0	0	0	1	3669	1538	54	3		3	COL12A1	6	75838046	Silent	SNP	T	TCGA-BR-6453-01A-11D-1800-08	13080177	75838046	95277021	89	32809											
GRIK2	2898	broad.mit.edu	37	chr6	102069857	102069857	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atatgtggaatctggcccaaTgggagctgaggaacttgcat	13	7	1	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr6:102069857T>G	uc003pqp.3	+	2	398	c.149T>G	c.(148-150)ATG>AGG	p.M50R	GRIK2_uc003pqn.2_Missense_Mutation_p.M50R|GRIK2_uc003pqo.3_Missense_Mutation_p.M50R|GRIK2_uc010kcw.2_Missense_Mutation_p.M50R	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	50	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TCTGGCCCAATGGGAGCTGAG	0.343													G	102069857	T	G	102069857	3	3	28	1	0	0	0	0	1	0	0	0	6774	1464	51	5	155	5	GRIK2	6	102069857	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	26231811	102069857	69045210	90	32810											
DNAH11	8701	broad.mit.edu	37	chr7	21826307	21826307	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttaccaatgttactgcagcCgtgatggtccttctggctcc	10	12	1	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr7:21826307C>A	uc003svc.2	+	60	9715	c.9684C>A	c.(9682-9684)GCC>GCA	p.A3228A		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3228	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TTACTGCAGCCGTGATGGTCC	0.517									Kartagener_syndrome				A	21826307	C	A	21826307	2	1	28	1	0	0	0	0	0	0	0	1	4599	639	23	5		5	DNAH11	7	21826307	Silent	SNP	C	TCGA-BR-6453-01A-11D-1800-08		21826307	137312356	91	32811											
ANLN	54443	broad.mit.edu	37	chr7	36492149	36492149	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcaaaaactcaatcaagtTcttgttgatattcgcctctg	6	9	4	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr7:36492149T>C	uc003tff.2	+	24	3519	c.3315T>C	c.(3313-3315)GTT>GTC	p.V1105V	ANLN_uc011kaz.1_Silent_p.V1017V|ANLN_uc003tfg.2_Silent_p.V1068V|ANLN_uc010kxe.2_Silent_p.V1067V	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	1105	PH.|Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3						TCAATCAAGTTCTTGTTGATA	0.423													C	36492149	T	C	36492149	2	2	28	1	0	0	0	0	0	0	0	1	694	1770	62	3		3	ANLN	7	36492149	Silent	SNP	T	TCGA-BR-6453-01A-11D-1800-08	14665842	36492149	122646514	92	32812											
ELMO1	9844	broad.mit.edu	37	chr7	37354471	37354471	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taccttttctgtgatatagaAgtttgaactatcggcatgct	8	7	1	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr7:37354471A>C	uc003tfk.1	-	4	482	c.175T>G	c.(175-177)TTC>GTC	p.F59V	ELMO1_uc010kxg.1_Missense_Mutation_p.F59V	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	59					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						GTGATATAGAAGTTTGAACTA	0.358													C	37354471	A	C	37354471	3	2	28	1	0	0	0	0	1	0	0	0	5065	72	3	5	2084	5	ELMO1	7	37354471	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	862322	37354471	121784192	93	32813											
TXNDC3	51314	broad.mit.edu	37	chr7	37924817	37924817	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacaattactgggaccaAgaactgttgaagaagccatt	10	7	0	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr7:37924817A>C	uc003tfn.2	+	14	1582	c.1210A>C	c.(1210-1212)AGA>CGA	p.R404R		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	404	NDK 2.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						ACTGGGACCAAGAACTGTTGA	0.383									Kartagener_syndrome				C	37924817	A	C	37924817	2	2	28	1	0	0	0	0	0	0	0	1	16795	64	3	5		5	TXNDC3	7	37924817	Silent	SNP	A	TCGA-BR-6453-01A-11D-1800-08	570346	37924817	121213846	94	32814											
WBSCR17	64409	broad.mit.edu	37	chr7	70885974	70885974	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacaacatcaaacaggacaActttgaggtgcagcggtacg	11	9	1	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr7:70885974A>C	uc003tvy.2	+	5	845	c.845A>C	c.(844-846)AAC>ACC	p.N282T	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	282	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AAACAGGACAACTTTGAGGTG	0.557													C	70885974	A	C	70885974	3	2	28	1	0	0	0	0	1	0	0	0	17261	43	2	5	863	5	WBSCR17	7	70885974	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	32961157	70885974	88252689	95	32815											
CHRM2	1129	broad.mit.edu	37	chr7	136700432	136700432	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggatcctgtgactgaaaacTgtgttcagggagaggagaag	16	5	1	4			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr7:136700432T>A	uc003vtf.1	+	4	1443	c.820T>A	c.(820-822)TGT>AGT	p.C274S	CHRM2_uc003vtg.1_Missense_Mutation_p.C274S|CHRM2_uc003vtj.1_Missense_Mutation_p.C274S|CHRM2_uc003vtk.1_Missense_Mutation_p.C274S|CHRM2_uc003vtl.1_Missense_Mutation_p.C274S|CHRM2_uc003vtm.1_Missense_Mutation_p.C274S|CHRM2_uc003vti.1_Missense_Mutation_p.C274S|CHRM2_uc003vto.1_Missense_Mutation_p.C274S|CHRM2_uc003vtn.1_Missense_Mutation_p.C274S|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	274	Cytoplasmic (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GACTGAAAACTGTGTTCAGGG	0.483													A	136700432	T	A	136700432	3	1	28	1	0	0	0	0	1	0	0	0	3377	1580	55	5	822	5	CHRM2	7	136700432	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	65814458	136700432	22438231	96	32816											
TMEM176B	28959	broad.mit.edu	37	chr7	150493578	150493578	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagctgactcctggtggAtgtggacgttgacgtgggtg	16	7	1	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr7:150493578A>G	uc003wht.3	-	2	246	c.80T>C	c.(79-81)ATC>ACC	p.I27T	TMEM176B_uc003whu.3_Missense_Mutation_p.I27T|TMEM176B_uc003whv.3_Missense_Mutation_p.I27T|TMEM176B_uc003whw.3_Missense_Mutation_p.I27T	NM_001101313	NP_001094783	Q3YBM2	T176B_HUMAN	transmembrane protein 176B isoform a	27					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCTGGTGGATGTGGACGTT	0.537													G	150493578	A	G	150493578	3	3	28	1	0	0	0	0	1	0	0	0	16090	333	12	3	756	3	TMEM176B	7	150493578	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	13793146	150493578	8645085	97	32817											
DLGAP2	9228	broad.mit.edu	37	chr8	1626407	1626407	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttttaaacgttctaacagCgtcacggccgccgtccaagc	9	14	2	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr8:1626407C>T	uc003wpl.2	+	9	2173	c.2076C>T	c.(2074-2076)AGC>AGT	p.S692S	DLGAP2_uc003wpm.2_Silent_p.S678S	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	771					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GTTCTAACAGCGTCACGGCCG	0.562													T	1626407	C	T	1626407	2	4	28	1	0	0	0	0	0	0	0	1	4560	767	27	1		1	DLGAP2	8	1626407	Silent	SNP	C	TCGA-BR-6453-01A-11D-1800-08		1626407	144737615	98	32818											
CSMD1	64478	broad.mit.edu	37	chr8	2949052	2949052	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acttacctgcatagcgaatcTtgaatcctttcttactggtg	7	10	2	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr8:2949052T>G	uc011kwk.1	-	48	7664	c.7274A>C	c.(7273-7275)AAG>ACG	p.K2425T	CSMD1_uc011kwj.1_Missense_Mutation_p.K1754T|CSMD1_uc010lrg.2_Missense_Mutation_p.K493T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2425	CUB 14.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATAGCGAATCTTGAATCCTTT	0.313													G	2949052	T	G	2949052	3	3	28	1	0	0	0	0	1	0	0	0	3944	1609	56	5	3515	5	CSMD1	8	2949052	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	1322645	2949052	143414970	99	32819											
SOX7	83595	broad.mit.edu	37	chr8	10583717	10583717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctggcaggtgggggatgCggcggggatggccatgctcc	20	11	0	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr8:10583717C>T	uc003wtf.2	-	2	777	c.698G>A	c.(697-699)CGC>CAC	p.R233H	SOX7_uc011kwz.1_Missense_Mutation_p.R285H	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	233					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)	1				COAD - Colon adenocarcinoma(149;0.0732)		GTGGGGGATGCGGCGGGGATG	0.692													T	10583717	C	T	10583717	3	4	28	1	0	0	0	0	1	0	0	0	14956	768	27	1	472	1	SOX7	8	10583717	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	7634665	10583717	135780305	100	32820											
MSR1	4481	broad.mit.edu	37	chr8	16026107	16026107	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccatgtccctggactgaggAaaacaaggtacttagctgca	10	11	0	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr8:16026107A>G	uc003wwz.2	-	4	688	c.490T>C	c.(490-492)TCC>CCC	p.S164P	MSR1_uc010lsu.2_Missense_Mutation_p.S182P|MSR1_uc003wxa.2_Missense_Mutation_p.S164P|MSR1_uc003wxb.2_Missense_Mutation_p.S164P|MSR1_uc011kxz.1_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	164	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)		TGGACTGAGGAAAACAAGGTA	0.388													G	16026107	A	G	16026107	3	3	28	1	0	0	0	0	1	0	0	0	9886	246	9	3	941	3	MSR1	8	16026107	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	5442390	16026107	130337915	101	32821											
FGFR1	2260	broad.mit.edu	37	chr8	38279423	38279423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatttcttaagtgaagcaCctccatctctttgtcggtgg	9	10	2	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr8:38279423C>T	uc003xlp.2	-	8	1915	c.973G>A	c.(973-975)GTG>ATG	p.V325M	FGFR1_uc011lbo.1_Missense_Mutation_p.V323M|FGFR1_uc011lbp.1_Missense_Mutation_p.V236M|FGFR1_uc011lbq.1_Missense_Mutation_p.V234M|FGFR1_uc010lwk.2_Missense_Mutation_p.V317M|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.V165M|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbu.1_Missense_Mutation_p.V356M|FGFR1_uc011lbv.1_Missense_Mutation_p.V323M|FGFR1_uc011lbw.1_Missense_Mutation_p.V236M|FGFR1_uc011lbx.1_Missense_Mutation_p.V236M	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	325	Ig-like C2-type 3.|Extracellular (Potential).				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	AAGTGAAGCACCTCCATCTCT	0.498		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						T	38279423	C	T	38279423	3	4	28	1	0	0	0	0	1	0	0	0	5863	507	18	4	1539	4	FGFR1	8	38279423	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	22253316	38279423	108084599	102	32822											
SGK196	84197	broad.mit.edu	37	chr8	42958728	42958728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacagcaggagaggcctcGccccccgagaggtgccgcca	14	15	0	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr8:42958728G>A	uc003xpw.2	+	4	296	c.37G>A	c.(37-39)GCC>ACC	p.A13T		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	protein kinase-like protein SgK196	13						integral to membrane	ATP binding|protein kinase activity				0						GAGAGGCCTCGCCCCCCGAGA	0.542													A	42958728	G	A	42958728	3	1	28	1	0	0	0	0	1	0	0	0	14208	1087	38	1	39	1	SGK196	8	42958728	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	4679305	42958728	103405294	103	32823											
OPRK1	4986	broad.mit.edu	37	chr8	54142200	54142200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgatcctacgcaggttgCgatctttctctcgggagcca	12	11	2	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr8:54142200C>T	uc003xrh.1	-	3	1175	c.800G>A	c.(799-801)CGC>CAC	p.R267H	OPRK1_uc003xri.1_Missense_Mutation_p.R267H|OPRK1_uc010lyc.1_Missense_Mutation_p.R178H	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	267	Cytoplasmic (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	ACGCAGGTTGCGATCTTTCTC	0.572													T	54142200	C	T	54142200	3	4	28	1	0	0	0	0	1	0	0	0	10885	768	27	1	346	1	OPRK1	8	54142200	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	11183472	54142200	92221822	104	32824											
OPRK1	4986	broad.mit.edu	37	chr8	54147490	54147490	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcatcatggtcaaggtgaAgatgctggtgaacatgttgt	13	6	3	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr8:54147490A>C	uc003xrh.1	-	2	814	c.439T>G	c.(439-441)TTC>GTC	p.F147V	OPRK1_uc003xri.1_Missense_Mutation_p.F147V|OPRK1_uc010lyc.1_Missense_Mutation_p.F58V	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	147	Helical; Name=3; (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GTCAAGGTGAAGATGCTGGTG	0.473													C	54147490	A	C	54147490	3	2	28	1	0	0	0	0	1	0	0	0	10885	72	3	5	711	5	OPRK1	8	54147490	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	5290	54147490	92216532	105	32825											
PREX2	80243	broad.mit.edu	37	chr8	69058469	69058469	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcttacatatcaagcagaAggaagtcggcaagctctgaa	9	10	3	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr8:69058469A>C	uc003xxv.1	+	34	4140	c.4113A>C	c.(4111-4113)GAA>GAC	p.E1371D		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1371					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						ATCAAGCAGAAGGAAGTCGGC	0.323													C	69058469	A	C	69058469	3	2	28	1	0	0	0	0	1	0	0	0	12477	69	3	5	4476	5	PREX2	8	69058469	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	14910979	69058469	77305553	106	32826											
SULF1	23213	broad.mit.edu	37	chr8	70536271	70536271	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaatctggaagaagaagaAgaattgcaagtgttgcaacc	10	5	1	4			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr8:70536271A>C	uc010lza.1	+	15	2406	c.1689A>C	c.(1687-1689)GAA>GAC	p.E563D	SULF1_uc003xyd.2_Missense_Mutation_p.E563D|SULF1_uc003xye.2_Missense_Mutation_p.E563D|SULF1_uc003xyf.2_Missense_Mutation_p.E563D|SULF1_uc003xyg.2_Missense_Mutation_p.E563D|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	563					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AAGAAGAAGAAGAATTGCAAG	0.463													C	70536271	A	C	70536271	3	2	28	1	0	0	0	0	1	0	0	0	15369	69	3	5	1731	5	SULF1	8	70536271	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	1477802	70536271	75827751	107	32827											
NECAB1	64168	broad.mit.edu	37	chr8	91937774	91937774	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgatcaaggcaagggccagCcaagccagaagtcctgtcga	12	11	1	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr8:91937774C>A	uc011lgg.1	+	7	700	c.506C>A	c.(505-507)GCC>GAC	p.A169D		NM_022351	NP_071746	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	169					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.0499)			CAAGGGCCAGCCAAGCCAGAA	0.478													A	91937774	C	A	91937774	3	1	28	1	0	0	0	0	1	0	0	0	10304	739	26	5	532	5	NECAB1	8	91937774	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	21401503	91937774	54426248	108	32828											
RIMS2	9699	broad.mit.edu	37	chr8	104898091	104898091	+	Missense_Mutation	SNP	A	A	C													ctcgagaggctcagggaccaAgttcttatgcacaaaggacc							TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr8:104898091A>C	uc003yls.2	+	2	839	c.598A>C	c.(598-600)AGT>CGT	p.S200R	RIMS2_uc003ylp.2_Missense_Mutation_p.S422R|RIMS2_uc003ylw.2_Missense_Mutation_p.S230R|RIMS2_uc003ylq.2_Missense_Mutation_p.S230R|RIMS2_uc003ylr.2_Missense_Mutation_p.S230R	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	453					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCAGGGACCAAGTTCTTATGC	0.483										HNSCC(12;0.0054)			C	104898091	A	C	104898091	3	2	28	1	0	0	0	0	1	0	0	0	13368	72	3	5	1404	5	RIMS2	8	104898091	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	12960317	104898091	41465931	109	32829	111	2									
RIMS2	9699	broad.mit.edu	37	chr8	104898096	104898096	+	Silent	SNP	T	T	G													gaggctcagggaccaagttcTtatgcacaaaggaccacaaa							TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr8:104898096T>G	uc003yls.2	+	2	844	c.603T>G	c.(601-603)TCT>TCG	p.S201S	RIMS2_uc003ylp.2_Silent_p.S423S|RIMS2_uc003ylw.2_Silent_p.S231S|RIMS2_uc003ylq.2_Silent_p.S231S|RIMS2_uc003ylr.2_Silent_p.S231S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	454					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S231S(1)		ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACCAAGTTCTTATGCACAAA	0.478										HNSCC(12;0.0054)			G	104898096	T	G	104898096	2	3	28	1	0	0	0	0	0	0	0	1	13368	1596	56	5		5	RIMS2	8	104898096	Silent	SNP	T	TCGA-BR-6453-01A-11D-1800-08	5	104898096	41465926	110	32830	111	2									
RIMS2	9699	broad.mit.edu	37	chr8	105260951	105260951	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgattttccctggtgttcgcTtggcctctgatagccagttc	10	11	1	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr8:105260951T>C	uc003yls.2	+	25	3794	c.3553T>C	c.(3553-3555)TTG>CTG	p.L1185L	RIMS2_uc003ylp.2_Silent_p.L1167L|RIMS2_uc003ylw.2_Silent_p.L1174L|RIMS2_uc003ylq.2_Silent_p.L981L|RIMS2_uc003ylr.2_Silent_p.L1006L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1229					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGTGTTCGCTTGGCCTCTGA	0.463										HNSCC(12;0.0054)			C	105260951	T	C	105260951	2	2	28	1	0	0	0	0	0	0	0	1	13368	1606	56	3		3	RIMS2	8	105260951	Silent	SNP	T	TCGA-BR-6453-01A-11D-1800-08	362855	105260951	41103071	111	32831											
LRP12	29967	broad.mit.edu	37	chr8	105503202	105503202	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccacttaccccattatcaAgttgtctcaaaggactctgg	6	12	3	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr8:105503202A>G	uc003yma.2	-	7	2374	c.2279T>C	c.(2278-2280)CTT>CCT	p.L760P	LRP12_uc003ymb.2_Missense_Mutation_p.L741P|LRP12_uc003ylz.2_Missense_Mutation_p.L166P	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	760	Cytoplasmic (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCCATTATCAAGTTGTCTCAA	0.428													G	105503202	A	G	105503202	3	3	28	1	0	0	0	0	1	0	0	0	8954	72	3	3	304	3	LRP12	8	105503202	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	242251	105503202	40860820	112	32832											
TRHR	7201	broad.mit.edu	37	chr8	110131681	110131681	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtatcctttagccaaagTtgattcatgaattagaagaa	9	5	1	4			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr8:110131681T>G	uc003ymz.3	+	2	1210	c.1194T>G	c.(1192-1194)AGT>AGG	p.S398R		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	398	Cytoplasmic (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity			skin(2)|lung(1)	3			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TTAGCCAAAGTTGATTCATGA	0.403													G	110131681	T	G	110131681	3	3	28	1	0	0	0	0	1	0	0	0	16477	1722	60	5	1200	5	TRHR	8	110131681	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	4628479	110131681	36232341	113	32833											
FLJ43860	389690	broad.mit.edu	37	chr8	142487565	142487565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacagagtgtcctggggCtccttctccatcaaaacctg	10	13	2	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr8:142487565C>T	uc003ywi.2	-	12	1464	c.1383G>A	c.(1381-1383)GAG>GAA	p.E461E	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	461							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGTCCTGGGGCTCCTTCTCCA	0.662													T	142487565	C	T	142487565	2	4	28	1	0	0	0	0	0	0	0	1	5930	796	28	2		2	FLJ43860	8	142487565	Silent	SNP	C	TCGA-BR-6453-01A-11D-1800-08	32355884	142487565	3876457	114	32834											
KIAA2026	158358	broad.mit.edu	37	chr9	5924714	5924714	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttctgttgagtctatagacTtactgatttctcccttagga	8	8	3	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr9:5924714T>G	uc003zjq.3	-	7	2846	c.2630A>C	c.(2629-2631)AAG>ACG	p.K877T	KIAA2026_uc010mht.2_Missense_Mutation_p.K52T	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	877										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GTCTATAGACTTACTGATTTC	0.373													G	5924714	T	G	5924714	3	3	28	1	0	0	0	0	1	0	0	0	8270	1609	56	5	3689	5	KIAA2026	9	5924714	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08		5924714	135288717	115	32835											
BNC2	54796	broad.mit.edu	37	chr9	16436121	16436121	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctgttatgcttagaaaAgtccttcacagacatgcctg	9	10	1	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr9:16436121A>G	uc003zml.2	-	6	2211	c.2071T>C	c.(2071-2073)TTT>CTT	p.F691L	BNC2_uc011lmw.1_Missense_Mutation_p.F596L|BNC2_uc003zmm.2_Missense_Mutation_p.F649L|BNC2_uc003zmq.1_Missense_Mutation_p.F705L|BNC2_uc003zmr.1_Missense_Mutation_p.F728L|BNC2_uc003zmp.1_Missense_Mutation_p.F719L|BNC2_uc010mij.1_Missense_Mutation_p.F613L|BNC2_uc011lmv.1_Missense_Mutation_p.F517L|BNC2_uc003zmo.1_Missense_Mutation_p.F613L|BNC2_uc003zmj.2_Missense_Mutation_p.F456L|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.F456L|BNC2_uc003zmn.1_Missense_Mutation_p.F456L	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	691					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		TGCTTAGAAAAGTCCTTCACA	0.493													G	16436121	A	G	16436121	3	3	28	1	0	0	0	0	1	0	0	0	1475	72	3	3	1236	3	BNC2	9	16436121	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	10511407	16436121	124777310	116	32836											
CNTLN	54875	broad.mit.edu	37	chr9	17415802	17415802	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaggactattttcatgataAgaatgccaaaaaaccaactt	5	7	1	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr9:17415802A>G	uc003zmz.2	+	17	2836	c.2810A>G	c.(2809-2811)AAG>AGG	p.K937R	CNTLN_uc003zmy.2_Missense_Mutation_p.K938R|CNTLN_uc010mio.2_Missense_Mutation_p.K617R	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	938						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		TTTCATGATAAGAATGCCAAA	0.284													G	17415802	A	G	17415802	3	3	28	1	0	0	0	0	1	0	0	0	3639	72	3	3	2909	3	CNTLN	9	17415802	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	979681	17415802	123797629	117	32837											
ANXA1	301	broad.mit.edu	37	chr9	75781105	75781105	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaaatgcctcacagctAtcggtatgtagtccagcagt	10	9	1	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr9:75781105A>G	uc004ajf.1	+	10	873	c.799A>G	c.(799-801)ATC>GTC	p.I267V	ANXA1_uc004aje.1_Missense_Mutation_p.I267V|ANXA1_uc004ajg.1_Missense_Mutation_p.I267V	NM_000700	NP_000691	P04083	ANXA1_HUMAN	annexin I	267	Annexin 3.				alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)	2		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CCTCACAGCTATCGGTATGTA	0.358													G	75781105	A	G	75781105	3	3	28	1	0	0	0	0	1	0	0	0	714	449	16	3	833	3	ANXA1	9	75781105	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	58365303	75781105	65432326	118	32838											
RORB	6096	broad.mit.edu	37	chr9	77257530	77257530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacttatgccaacgggcacGtcattgacctgcccaagtct	9	14	2	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr9:77257530G>A	uc004aji.2	+	4	518	c.469G>A	c.(469-471)GTC>ATC	p.V157I	RORB_uc004ajh.2_Missense_Mutation_p.V146I	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	157	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						CAACGGGCACGTCATTGACCT	0.542													A	77257530	G	A	77257530	3	1	28	1	0	0	0	0	1	0	0	0	13529	1145	40	1	450	1	RORB	9	77257530	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	1476425	77257530	63955901	119	32839											
ZNF883	169834	broad.mit.edu	37	chr9	115759835	115759835	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgcattacactcatagggTttttctccagtatgaattct	6	9	3	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr9:115759835T>C	uc011lwy.1	-	5	1944	c.705A>G	c.(703-705)AAA>AAG	p.K235K		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	hypothetical protein LOC169834	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ACTCATAGGGTTTTTCTCCAG	0.428													C	115759835	T	C	115759835	2	2	28	1	0	0	0	0	0	0	0	1	18195	1722	60	3		3	ZNF883	9	115759835	Silent	SNP	T	TCGA-BR-6453-01A-11D-1800-08	38502305	115759835	25453596	120	32840											
TLR4	7099	broad.mit.edu	37	chr9	120475865	120475865	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaattctttccaggaaaacTtccttccagatatcttcaca	4	12	3	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr9:120475865T>G	uc004bjz.2	+	3	1750	c.1459T>G	c.(1459-1461)TTC>GTC	p.F487V	TLR4_uc004bka.2_Missense_Mutation_p.F447V|TLR4_uc004bkb.2_Missense_Mutation_p.F287V	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	487	LRR 15.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						CCAGGAAAACTTCCTTCCAGA	0.448													G	120475865	T	G	120475865	3	3	28	1	0	0	0	0	1	0	0	0	15950	1609	56	5	1469	5	TLR4	9	120475865	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	4716030	120475865	20737566	121	32841											
FUT7	2529	broad.mit.edu	37	chr9	139925609	139925609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatccacccgcagatgaggCgccagctgccggtacagcct	11	16	0	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr9:139925609C>T	uc004ckq.2	-	2	1431	c.582G>A	c.(580-582)GCG>GCA	p.A194A	ABCA2_uc011mel.1_5'Flank|ABCA2_uc011mem.1_5'Flank|ABCA2_uc004ckl.1_5'Flank|ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron	NM_004479	NP_004470	Q11130	FUT7_HUMAN	fucosyltransferase 7	194	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity				0	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GCAGATGAGGCGCCAGCTGCC	0.687													T	139925609	C	T	139925609	2	4	28	1	0	0	0	0	0	0	0	1	6109	755	27	1		1	FUT7	9	139925609	Silent	SNP	C	TCGA-BR-6453-01A-11D-1800-08	19449744	139925609	1287822	122	32842											
PLXDC2	84898	broad.mit.edu	37	chr10	20465939	20465939	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttctagatgttcgaagaAgaacaatttatgaataccac	6	6	1	4			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr10:20465939A>C	uc001iqg.1	+	8	1532	c.895A>C	c.(895-897)AGA>CGA	p.R299R	PLXDC2_uc001iqh.1_Silent_p.R250R|PLXDC2_uc009xkc.1_RNA	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	299	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						TGTTCGAAGAAGAACAATTTA	0.318													C	20465939	A	C	20465939	2	2	28	1	0	0	0	0	0	0	0	1	12118	64	3	5		5	PLXDC2	10	20465939	Silent	SNP	A	TCGA-BR-6453-01A-11D-1800-08		20465939	115068808	123	32843											
GPR158	57512	broad.mit.edu	37	chr10	25701388	25701388	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgctggtggtctaccacTttcgcaaagcaaaggtaaac	10	10	1	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr10:25701388T>G	uc001isj.2	+	4	1381	c.1321T>G	c.(1321-1323)TTT>GTT	p.F441V		NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	441	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						GGTCTACCACTTTCGCAAAGC	0.433													G	25701388	T	G	25701388	3	3	28	1	0	0	0	0	1	0	0	0	6663	1609	56	5	1335	5	GPR158	10	25701388	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	5235449	25701388	109833359	124	32844											
GPR158	57512	broad.mit.edu	37	chr10	25886999	25886999	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaccgagtcttctcactcaAgaaatcccacagcacttatg	5	13	3	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr10:25886999A>C	uc001isj.2	+	11	2504	c.2444A>C	c.(2443-2445)AAG>ACG	p.K815T	GPR158_uc001isk.2_Missense_Mutation_p.K190T	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	815	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						TTCTCACTCAAGAAATCCCAC	0.512													C	25886999	A	C	25886999	3	2	28	1	0	0	0	0	1	0	0	0	6663	72	3	5	2486	5	GPR158	10	25886999	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	185611	25886999	109647748	125	32845											
TET1	80312	broad.mit.edu	37	chr10	70451076	70451076	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagatgagcctccatcagaCgaacccctatctgatgaccc	8	15	2	5			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr10:70451076C>T	uc001jok.3	+	12	6421	c.5916C>T	c.(5914-5916)GAC>GAT	p.D1972D		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1972					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						CTCCATCAGACGAACCCCTAT	0.498													T	70451076	C	T	70451076	2	4	28	1	0	0	0	0	0	0	0	1	15766	535	19	1		1	TET1	10	70451076	Silent	SNP	C	TCGA-BR-6453-01A-11D-1800-08	44564077	70451076	65083671	126	32846											
CDH23	64072	broad.mit.edu	37	chr10	73544140	73544140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctacaacctgaccatctGtgcccgtgaccgggggatgc	11	14	2	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr10:73544140G>A	uc001jrx.3	+	40	5842	c.5465G>A	c.(5464-5466)TGT>TAT	p.C1822Y		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1822	Cadherin 17.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CTGACCATCTGTGCCCGTGAC	0.637													A	73544140	G	A	73544140	3	1	28	1	0	0	0	0	1	0	0	0	3108	1377	48	4	5972	4	CDH23	10	73544140	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	3093064	73544140	61990607	127	32847											
ZNF503	84858	broad.mit.edu	37	chr10	77158820	77158820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgtcccgggaaatgccGtatgggtccgcaagtggctc	14	11	1	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr10:77158820G>A	uc001jxg.2	-	2	1964	c.1628C>T	c.(1627-1629)ACG>ATG	p.T543M	C10orf41_uc010qlf.1_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	zinc finger protein 503	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GGGAAATGCCGTATGGGTCCG	0.662													A	77158820	G	A	77158820	3	1	28	1	0	0	0	0	1	0	0	0	17948	1145	40	1	316	1	ZNF503	10	77158820	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	3614680	77158820	58375927	128	32848											
PYROXD2	84795	broad.mit.edu	37	chr10	100150465	100150465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggcagcggctggcccctGggagcattgggggccgccag	20	12	0	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr10:100150465G>A	uc001kpc.2	-	12	1268	c.1182C>T	c.(1180-1182)CCC>CCT	p.P394P	PYROXD2_uc001kpb.2_RNA|PYROXD2_uc001kpd.2_RNA	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase	394							oxidoreductase activity			central_nervous_system(1)	1						GCTGGCCCCTGGGAGCATTGG	0.617													A	100150465	G	A	100150465	2	1	28	1	0	0	0	0	0	0	0	1	12867	1335	47	4		4	PYROXD2	10	100150465	Silent	SNP	G	TCGA-BR-6453-01A-11D-1800-08	22991645	100150465	35384282	129	32849											
OR51A7	119687	broad.mit.edu	37	chr11	4928970	4928970	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgtctttggaccgctttcTtgccattcacaatcccttaa	5	12	3	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr11:4928970T>G	uc010qyq.1	+	1	371	c.371T>G	c.(370-372)CTT>CGT	p.L124R		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACCGCTTTCTTGCCATTCAC	0.393													G	4928970	T	G	4928970	3	3	28	1	0	0	0	0	1	0	0	0	11088	1609	56	5	373	5	OR51A7	11	4928970	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08		4928970	130077546	130	32850											
OR52E8	390079	broad.mit.edu	37	chr11	5878173	5878173	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtgtaaaaaaggctaAgataacaccaatatgagaac	9	6	0	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr11:5878173A>C	uc010qzr.1	-	1	760	c.760T>G	c.(760-762)TTA>GTA	p.L254V	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	254	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAAAGGCTAAGATAACACCA	0.418													C	5878173	A	C	5878173	3	2	28	1	0	0	0	0	1	0	0	0	11118	69	3	5	195	5	OR52E8	11	5878173	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	949203	5878173	129128343	131	32851											
OR56A4	120793	broad.mit.edu	37	chr11	6023384	6023384	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgaggtggtgcaggatgTtgagcaggatggggacatct	18	4	1	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr11:6023384T>G	uc010qzv.1	-	1	995	c.995A>C	c.(994-996)AAC>ACC	p.N332T		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A,	280	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGCAGGATGTTGAGCAGGAT	0.512													G	6023384	T	G	6023384	3	3	28	1	0	0	0	0	1	0	0	0	11135	1725	60	5	104	5	OR56A4	11	6023384	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	145211	6023384	128983132	132	32852											
OR56A1	120796	broad.mit.edu	37	chr11	6048895	6048895	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaggaattcagagactgggaCagtggagctgttgctgggtg	18	5	1	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr11:6048895C>G	uc010qzw.1	-	1	40	c.40G>C	c.(40-42)GTC>CTC	p.V14L		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	14	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGACTGGGACAGTGGAGCTG	0.517													G	6048895	C	G	6048895	3	3	28	1	0	0	0	0	1	0	0	0	11133	478	17	5	920	5	OR56A1	11	6048895	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	25511	6048895	128957621	133	32853											
DCDC1	341019	broad.mit.edu	37	chr11	31349807	31349807	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatagtgcttctctgtgatcTtctgctcctgtttttgccat	8	10	3	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr11:31349807T>C	uc001msv.2	-	3	223	c.21A>G	c.(19-21)GAA>GAG	p.E7E	DCDC1_uc001msu.1_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	7					intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					CTCTGTGATCTTCTGCTCCTG	0.363													C	31349807	T	C	31349807	2	2	28	1	0	0	0	0	0	0	0	1	4284	1606	56	3		3	DCDC1	11	31349807	Silent	SNP	T	TCGA-BR-6453-01A-11D-1800-08	25300912	31349807	103656709	134	32854											
API5	8539	broad.mit.edu	37	chr11	43352073	43352073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagaacaagattaaagtcGttgcattgaaaataacaaac	7	5	0	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr11:43352073G>A	uc010rfh.1	+	11	1410	c.1237G>A	c.(1237-1239)GTT>ATT	p.V413I	API5_uc010rfg.1_Missense_Mutation_p.V402I|API5_uc001mxf.2_Missense_Mutation_p.V413I|API5_uc010rfi.1_Missense_Mutation_p.V359I|API5_uc001mxg.2_Missense_Mutation_p.V287I	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5 isoform a	413					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						GATTAAAGTCGTTGCATTGAA	0.294													A	43352073	G	A	43352073	3	1	28	1	0	0	0	0	1	0	0	0	773	1145	40	1	1279	1	API5	11	43352073	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	12002266	43352073	91654443	135	32855											
OR4A5	81318	broad.mit.edu	37	chr11	51412117	51412117	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatagctggcccatgcaaccTtggaaggaaatagtcttttt	9	8	1	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr11:51412117T>G	uc001nhi.1	-	1	279	c.279A>C	c.(277-279)CAA>CAC	p.Q93H		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				CCATGCAACCTTGGAAGGAAA	0.448													G	51412117	T	G	51412117	3	3	28	1	0	0	0	0	1	0	0	0	11043	1606	56	5	672	5	OR4A5	11	51412117	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	8060044	51412117	83594399	136	32856											
SPRYD5	84767	broad.mit.edu	37	chr11	55657447	55657447	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgctgcaagtgtctgAgcctgtgaatccagagctca	11	11	3	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr11:55657447A>T	uc010rip.1	+	6	883	c.791A>T	c.(790-792)GAG>GTG	p.E264V	SPRYD5_uc010riq.1_Missense_Mutation_p.E121V	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	264						intracellular	zinc ion binding				0		all_epithelial(135;0.226)				CAAGTGTCTGAGCCTGTGAAT	0.478													T	55657447	A	T	55657447	3	4	28	1	0	0	0	0	1	0	0	0	15110	304	11	5	809	5	SPRYD5	11	55657447	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	4245330	55657447	79349069	137	32857											
OR5W2	390148	broad.mit.edu	37	chr11	55681965	55681965	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attaatgatataaacagccaAgaatacagcaaatagggtca	7	6	1	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr11:55681965A>C	uc010rir.1	-	1	94	c.94T>G	c.(94-96)TTG>GTG	p.L32V		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TAAACAGCCAAGAATACAGCA	0.353													C	55681965	A	C	55681965	3	2	28	1	0	0	0	0	1	0	0	0	11185	69	3	5	840	5	OR5W2	11	55681965	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	24518	55681965	79324551	138	32858											
FAT3	120114	broad.mit.edu	37	chr11	92533859	92533859	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accacagaaaggctagaccgGgaaaaccctctagaagggga	12	10	1	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr11:92533859G>T	uc001pdj.3	+	9	7697	c.7680G>T	c.(7678-7680)CGG>CGT	p.R2560R		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2560	Cadherin 23.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGCTAGACCGGGAAAACCCTC	0.473										TCGA Ovarian(4;0.039)			T	92533859	G	T	92533859	2	4	28	1	0	0	0	0	0	0	0	1	5691	1219	43	5		5	FAT3	11	92533859	Silent	SNP	G	TCGA-BR-6453-01A-11D-1800-08	36851894	92533859	42472657	139	32859											
TRPC6	7225	broad.mit.edu	37	chr11	101347243	101347243	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccctgagtccagatttcTttacattcagcccatatcat	7	12	3	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr11:101347243T>G	uc001pgk.3	-	6	1958	c.1533A>C	c.(1531-1533)AAA>AAC	p.K511N	TRPC6_uc009ywy.2_Missense_Mutation_p.K395N|TRPC6_uc009ywz.1_Missense_Mutation_p.K456N	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	511	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCCAGATTTCTTTACATTCAG	0.373													G	101347243	T	G	101347243	3	3	28	1	0	0	0	0	1	0	0	0	16580	1606	56	5	1294	5	TRPC6	11	101347243	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	8813384	101347243	33659273	140	32860											
DYNC2H1	79659	broad.mit.edu	37	chr11	103058272	103058272	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatatcaacctacctaaacTtgataaatgggggaccagta	8	8	1	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr11:103058272T>G	uc001pho.2	+	43	7241	c.7097T>G	c.(7096-7098)CTT>CGT	p.L2366R	DYNC2H1_uc001phn.1_Missense_Mutation_p.L2366R|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2366	AAA 3 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTACCTAAACTTGATAAATGG	0.343													G	103058272	T	G	103058272	3	3	28	1	0	0	0	0	1	0	0	0	4846	1609	56	5	7267	5	DYNC2H1	11	103058272	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	1711029	103058272	31948244	141	32861											
DYNC2H1	79659	broad.mit.edu	37	chr11	103124160	103124160	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaactttactacaacaagaAgtggattacgagggcaggta	10	6	0	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr11:103124160A>C	uc001pho.2	+	66	10333	c.10189A>C	c.(10189-10191)AGT>CGT	p.S3397R	DYNC2H1_uc001phn.1_Missense_Mutation_p.S3404R|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3397	AAA 5 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TACAACAAGAAGTGGATTACG	0.358													C	103124160	A	C	103124160	3	2	28	1	0	0	0	0	1	0	0	0	4846	72	3	5	10476	5	DYNC2H1	11	103124160	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	65888	103124160	31882356	142	32862											
RAB39	54734	broad.mit.edu	37	chr11	107832831	107832831	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctagtgggacataaatgTgatttagcttcacaacgtca	9	8	2	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr11:107832831T>C	uc001pjt.2	+	2	405	c.387T>C	c.(385-387)TGT>TGC	p.C129C		NM_017516	NP_059986	Q14964	RB39A_HUMAN	RAB39, member RAS oncogene family	129	GTP (By similarity).				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0				BRCA - Breast invasive adenocarcinoma(274;3.04e-05)|Epithelial(105;8.56e-05)|all cancers(92;0.00179)		GACATAAATGTGATTTAGCTT	0.388													C	107832831	T	C	107832831	2	2	28	1	0	0	0	0	0	0	0	1	12929	1702	59	3		3	RAB39	11	107832831	Silent	SNP	T	TCGA-BR-6453-01A-11D-1800-08	4708671	107832831	27173685	143	32863											
CBL	867	broad.mit.edu	37	chr11	119170326	119170326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccgcctctgctgccacCgcctcacctcagctctccag	7	22	4	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr11:119170326C>T	uc001pwe.2	+	16	2694	c.2556C>T	c.(2554-2556)ACC>ACT	p.T852T		NM_005188	NP_005179	P22681	CBL_HUMAN	Cas-Br-M (murine) ecotropic retroviral	852	Interaction with CD2AP.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTGCTGCCACCGCCTCACCTC	0.562									CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome				T	119170326	C	T	119170326	2	4	28	1	0	0	0	0	0	0	0	1	2700	639	23	1		1	CBL	11	119170326	Silent	SNP	C	TCGA-BR-6453-01A-11D-1800-08	11337495	119170326	15836190	144	32864											
CHD4	1108	broad.mit.edu	37	chr12	6702658	6702658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattctctcggatgatggcaCggctgtccttgtcacccaca	9	14	2	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr12:6702658C>T	uc001qpo.2	-	16	2602	c.2438G>A	c.(2437-2439)CGT>CAT	p.R813H	CHD4_uc001qpn.2_Missense_Mutation_p.R806H|CHD4_uc001qpp.2_Missense_Mutation_p.R810H	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	813	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GATGATGGCACGGCTGTCCTT	0.537													T	6702658	C	T	6702658	3	4	28	1	0	0	0	0	1	0	0	0	3327	536	19	1	3400	1	CHD4	12	6702658	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08		6702658	127149237	145	32865											
LAG3	3902	broad.mit.edu	37	chr12	6883914	6883914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccccccatcaccacttagCggaaagcttcctcttcctgc	6	18	2	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr12:6883914C>T	uc001qqt.3	+	4	1014	c.665C>T	c.(664-666)GCG>GTG	p.A222V	LAG3_uc001qqs.2_Missense_Mutation_p.A222V|LAG3_uc001qqu.2_Missense_Mutation_p.A52V	NM_002286	NP_002277	P18627	LAG3_HUMAN	lymphocyte-activation protein 3 precursor	222	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane	antigen binding|MHC class II protein binding				0						CACCACTTAGCGGAAAGCTTC	0.627													T	6883914	C	T	6883914	3	4	28	1	0	0	0	0	1	0	0	0	8600	768	27	1	679	1	LAG3	12	6883914	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	181256	6883914	126967981	146	32866											
CLEC2B	9976	broad.mit.edu	37	chr12	10007076	10007076	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgcatttataccgcctaAgaaaattctttagagacaaa	5	8	1	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr12:10007076A>G	uc001qwn.2	-	4	902	c.245T>C	c.(244-246)CTT>CCT	p.L82P		NM_005127	NP_005118	Q92478	CLC2B_HUMAN	C-type lectin, superfamily member 2	82	C-type lectin.|Extracellular (Potential).					integral to plasma membrane	sugar binding				0						ATACCGCCTAAGAAAATTCTT	0.373													G	10007076	A	G	10007076	3	3	28	1	0	0	0	0	1	0	0	0	3507	72	3	3	212	3	CLEC2B	12	10007076	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	3123162	10007076	123844819	147	32867											
KCNJ8	3764	broad.mit.edu	37	chr12	21919280	21919280	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggcactaatgatcatgcTtttcctcaggtcacccactc	7	13	3	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr12:21919280T>G	uc001rff.2	-	3	990	c.652A>C	c.(652-654)AGC>CGC	p.S218R		NM_004982	NP_004973	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel J8	218	Cytoplasmic (By similarity).					voltage-gated potassium channel complex					0					Levosimendan(DB00922)	ATGATCATGCTTTTCCTCAGG	0.498													G	21919280	T	G	21919280	3	3	28	1	0	0	0	0	1	0	0	0	8056	1609	56	5	626	5	KCNJ8	12	21919280	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	11912204	21919280	111932615	148	32868											
CMAS	55907	broad.mit.edu	37	chr12	22218129	22218129	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgatgcctgttctactGcccagaaggctgttggatac	11	11	1	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr12:22218129G>T	uc001rfm.2	+	8	1268	c.1189G>T	c.(1189-1191)GCC>TCC	p.A397S	CMAS_uc001rfn.2_RNA	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	cytidine monophospho-N-acetylneuraminic acid	397					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			ovary(1)|pancreas(1)|skin(1)	3						CTGTTCTACTGCCCAGAAGGC	0.443													T	22218129	G	T	22218129	3	4	28	1	0	0	0	0	1	0	0	0	3575	1319	46	5	1219	5	CMAS	12	22218129	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	298849	22218129	111633766	149	32869											
FAR2	55711	broad.mit.edu	37	chr12	29449959	29449959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaatcttctctagacatgCtgtgcaacttaacgtcactg	6	11	3	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr12:29449959C>T	uc001ris.3	+	4	518	c.371C>T	c.(370-372)GCT>GTT	p.A124V	FAR2_uc001rit.2_Missense_Mutation_p.A124V|FAR2_uc009zjm.2_Missense_Mutation_p.A27V|uc001riu.1_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	124					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0						TCTAGACATGCTGTGCAACTT	0.428													T	29449959	C	T	29449959	3	4	28	1	0	0	0	0	1	0	0	0	5675	797	28	2	381	2	FAR2	12	29449959	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	7231830	29449959	104401936	150	32870											
KIF21A	55605	broad.mit.edu	37	chr12	39705250	39705250	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagaggagatcatcagtAgaatccacacagagcacagc	11	9	2	5			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr12:39705250A>G	uc001rly.2	-	32	4211	c.4065T>C	c.(4063-4065)TCT>TCC	p.S1355S	KIF21A_uc001rlv.2_Silent_p.S300S|KIF21A_uc001rlw.2_Silent_p.S625S|KIF21A_uc001rlx.2_Silent_p.S1342S|KIF21A_uc001rlz.2_Silent_p.S1302S|KIF21A_uc010skl.1_Silent_p.S1318S|KIF21A_uc001rlt.2_5'UTR|KIF21A_uc001rlu.2_5'UTR	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1355	WD 1.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				GATCATCAGTAGAATCCACAC	0.333													G	39705250	A	G	39705250	2	3	28	1	0	0	0	0	0	0	0	1	8288	407	15	3		3	KIF21A	12	39705250	Silent	SNP	A	TCGA-BR-6453-01A-11D-1800-08	10255291	39705250	94146645	151	32871											
KIAA0748	9840	broad.mit.edu	37	chr12	55356738	55356738	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccatcacttccaacacaActtggtccaaactgttcctt	4	14	1	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr12:55356738A>C	uc001sgn.3	-	9	1054	c.944T>G	c.(943-945)GTT>GGT	p.V315G	KIAA0748_uc001sgl.3_Missense_Mutation_p.V177G|KIAA0748_uc001sgm.3_Missense_Mutation_p.V62G|KIAA0748_uc010spb.1_Missense_Mutation_p.V62G|KIAA0748_uc010spc.1_Missense_Mutation_p.V177G|KIAA0748_uc010spd.1_Missense_Mutation_p.V315G|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	315										ovary(1)|central_nervous_system(1)	2						TTCCAACACAACTTGGTCCAA	0.532													C	55356738	A	C	55356738	3	2	28	1	0	0	0	0	1	0	0	0	8190	43	2	5	629	5	KIAA0748	12	55356738	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	15651488	55356738	78495157	152	32872											
C12orf63	374467	broad.mit.edu	37	chr12	97045576	97045576	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatgttaatacaactacaaAataccagttctattaaggta	4	7	1	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr12:97045576A>C	uc001tet.1	+	3	436	c.358A>C	c.(358-360)AAT>CAT	p.N120H		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	120										skin(6)|ovary(1)	7						ACAACTACAAAATACCAGTTC	0.299													C	97045576	A	C	97045576	3	2	28	1	0	0	0	0	1	0	0	0	1706	14	1	5	364	5	C12orf63	12	97045576	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	41688838	97045576	36806319	153	32873											
NBEA	26960	broad.mit.edu	37	chr13	36141109	36141109	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaaccaactatgaatcagaAgagttggacctgactcttcc	7	10	2	4			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr13:36141109A>C	uc001uvb.2	+	45	7196	c.6990A>C	c.(6988-6990)GAA>GAC	p.E2330D	NBEA_uc010abi.2_Missense_Mutation_p.E986D|NBEA_uc010tee.1_Missense_Mutation_p.E123D|NBEA_uc010tef.1_Missense_Mutation_p.E123D|NBEA_uc010teg.1_Missense_Mutation_p.E123D	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2330	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATGAATCAGAAGAGTTGGACC	0.348													C	36141109	A	C	36141109	3	2	28	1	0	0	0	0	1	0	0	0	10187	69	3	5	7168	5	NBEA	13	36141109	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08		36141109	79028769	154	32874											
CCNA1	8900	broad.mit.edu	37	chr13	37012812	37012812	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acccaaagcacactacatgaAgaagcagccagacatcacgg	8	13	1	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr13:37012812A>C	uc001uvr.3	+	5	1051	c.701A>C	c.(700-702)AAG>ACG	p.K234T	CCNA1_uc010teo.1_Missense_Mutation_p.K190T|CCNA1_uc010abq.2_Missense_Mutation_p.K190T|CCNA1_uc010abp.2_Missense_Mutation_p.K190T|CCNA1_uc001uvs.3_Missense_Mutation_p.K233T|CCNA1_uc010abr.2_Intron	NM_003914	NP_003905	P78396	CCNA1_HUMAN	cyclin A1 isoform a	234					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			lung(2)|skin(2)|ovary(1)	5		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CACTACATGAAGAAGCAGCCA	0.448													C	37012812	A	C	37012812	3	2	28	1	0	0	0	0	1	0	0	0	2909	72	3	5	719	5	CCNA1	13	37012812	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	871703	37012812	78157066	155	32875											
SMAD9	4093	broad.mit.edu	37	chr13	37453530	37453530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtggtgggactgcagatcCggccagcgccacacgcgaca	14	14	0	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr13:37453530C>T	uc001uvw.2	-	2	640	c.297G>A	c.(295-297)CCG>CCA	p.P99P	SMAD9_uc001uvx.2_Silent_p.P99P|SMAD9_uc010tep.1_5'UTR	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	99	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		ACTGCAGATCCGGCCAGCGCC	0.612													T	37453530	C	T	37453530	2	4	28	1	0	0	0	0	0	0	0	1	14764	639	23	1		1	SMAD9	13	37453530	Silent	SNP	C	TCGA-BR-6453-01A-11D-1800-08	440718	37453530	77716348	156	32876											
TRPC4	7223	broad.mit.edu	37	chr13	38229268	38229268	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatagctattaacatgTtgagtagaacaaccagagag	8	7	2	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr13:38229268T>G	uc001uws.2	-	7	2076	c.1841A>C	c.(1840-1842)AAC>ACC	p.N614T	TRPC4_uc010abv.2_Missense_Mutation_p.N194T|TRPC4_uc001uwt.2_Missense_Mutation_p.N614T|TRPC4_uc010tey.1_Missense_Mutation_p.N614T|TRPC4_uc010abw.2_Missense_Mutation_p.N441T|TRPC4_uc010abx.2_Missense_Mutation_p.N614T|TRPC4_uc010aby.2_Missense_Mutation_p.N614T	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	614	Helical; (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TATTAACATGTTGAGTAGAAC	0.353													G	38229268	T	G	38229268	3	3	28	1	0	0	0	0	1	0	0	0	16577	1725	60	5	1127	5	TRPC4	13	38229268	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	775738	38229268	76940610	157	32877											
ZC3H13	23091	broad.mit.edu	37	chr13	46554086	46554086	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttcccagctgtcatgatAgttgctattactactgtgac	8	9	1	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr13:46554086A>C	uc010tfw.1	-	10	1780	c.1774T>G	c.(1774-1776)TAT>GAT	p.Y592D	ZC3H13_uc001vas.1_Missense_Mutation_p.Y592D|ZC3H13_uc001vat.1_Missense_Mutation_p.Y592D	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	592	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTGTCATGATAGTTGCTATTA	0.393													C	46554086	A	C	46554086	3	2	28	1	0	0	0	0	1	0	0	0	17562	420	15	5	2948	5	ZC3H13	13	46554086	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	8324818	46554086	68615792	158	32878											
C13orf18	80183	broad.mit.edu	37	chr13	46946186	46946186	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgggcagagacacccgatgaGagtatcctgggcggaccatg	15	10	0	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr13:46946186G>A	uc010acl.2	-	3	1030	c.425C>T	c.(424-426)TCT>TTT	p.S142F	C13orf18_uc001vbf.3_Missense_Mutation_p.S75F|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_Missense_Mutation_p.S7F|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Missense_Mutation_p.S142F|C13orf18_uc001vbh.3_Missense_Mutation_p.S142F|C13orf18_uc001vbi.3_Intron|C13orf18_uc010aco.1_Missense_Mutation_p.S142F|C13orf18_uc010tga.1_Missense_Mutation_p.S75F	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	142											0		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)		CACCCGATGAGAGTATCCTGG	0.542													A	46946186	G	A	46946186	3	1	28	1	0	0	0	0	1	0	0	0	1720	942	33	4	1615	4	C13orf18	13	46946186	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	392100	46946186	68223692	159	32879											
ITM2B	9445	broad.mit.edu	37	chr13	48835306	48835306	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtgaagccagcaattgtttCgcaattcggcattttgaaaa	9	8	0	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr13:48835306C>T	uc001vbz.3	+	6	970	c.747C>T	c.(745-747)TTC>TTT	p.F249F		NM_021999	NP_068839	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	249	Lumenal (Potential).				nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding				0		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		GCAATTGTTTCGCAATTCGGC	0.274													T	48835306	C	T	48835306	2	4	28	1	0	0	0	0	0	0	0	1	7913	883	31	1		1	ITM2B	13	48835306	Silent	SNP	C	TCGA-BR-6453-01A-11D-1800-08	1889120	48835306	66334572	160	32880											
PCDH9	5101	broad.mit.edu	37	chr13	66878826	66878826	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggactctcagtagcacctccTgcttgcttataagacttcag	8	12	2	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr13:66878826T>C	uc001vik.2	-	5	4367	c.3675A>G	c.(3673-3675)GCA>GCG	p.A1225A	PCDH9_uc010aei.2_RNA|PCDH9_uc001vil.2_Silent_p.A1191A|PCDH9_uc010thl.1_Silent_p.A1183A	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	1225	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TAGCACCTCCTGCTTGCTTAT	0.443													C	66878826	T	C	66878826	2	2	28	1	0	0	0	0	0	0	0	1	11518	1567	55	3		3	PCDH9	13	66878826	Silent	SNP	T	TCGA-BR-6453-01A-11D-1800-08	18043520	66878826	48291052	161	32881											
SLITRK6	84189	broad.mit.edu	37	chr13	86368894	86368894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgttgcaggagtggtgaCcataaggtaactagtctgtg	14	5	1	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr13:86368894C>T	uc001vll.1	-	2	2209	c.1750G>A	c.(1750-1752)GTC>ATC	p.V584I	SLITRK6_uc010afe.1_Intron	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	584	Extracellular (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GGAGTGGTGACCATAAGGTAA	0.408													T	86368894	C	T	86368894	3	4	28	1	0	0	0	0	1	0	0	0	14747	507	18	4	779	4	SLITRK6	13	86368894	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	19490068	86368894	28800984	162	32882											
GPC6	10082	broad.mit.edu	37	chr13	93879749	93879749	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgattcttcccctcttgGggctgctgctctccctcccc	8	18	3	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr13:93879749G>C	uc001vlt.2	+	1	672	c.40G>C	c.(40-42)GGG>CGG	p.G14R	GPC6_uc010tig.1_Missense_Mutation_p.G14R	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	14						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TCCCCTCTTGGGGCTGCTGCT	0.642											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	93879749	G	C	93879749	3	2	28	1	0	0	0	0	1	0	0	0	6602	1232	43	5	42	5	GPC6	13	93879749	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	7510855	93879749	21290129	163	32883											
NALCN	259232	broad.mit.edu	37	chr13	101710377	101710377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcctcgatccgacagcGtggggctcaggagctgctgc	13	14	1	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr13:101710377G>A	uc001vox.1	-	43	5126	c.4937C>T	c.(4936-4938)ACG>ATG	p.T1646M		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1646	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATCCGACAGCGTGGGGCTCAG	0.567													A	101710377	G	A	101710377	3	1	28	1	0	0	0	0	1	0	0	0	10148	1145	40	1	287	1	NALCN	13	101710377	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	7830628	101710377	13459501	164	32884											
MYH6	4624	broad.mit.edu	37	chr14	23874326	23874326	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtgatgaggatggactgGttctcccgatctggaagaaa	13	8	2	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr14:23874326G>A	uc001wjv.2	-	6	580	c.513C>T	c.(511-513)AAC>AAT	p.N171N	MYH6_uc010akp.1_Silent_p.N171N	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	171	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGATGGACTGGTTCTCCCGAT	0.597													A	23874326	G	A	23874326	2	1	28	1	0	0	0	0	0	0	0	1	10038	1252	44	4		4	MYH6	14	23874326	Silent	SNP	G	TCGA-BR-6453-01A-11D-1800-08		23874326	83475214	165	32885											
NOVA1	4857	broad.mit.edu	37	chr14	26918125	26918125	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcacagtagcacctcccttCcctattatcagacctgctgt	5	15	2	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr14:26918125C>T	uc001wpy.2	-	5	882	c.564G>A	c.(562-564)GGG>GGA	p.G188G	NOVA1_uc001wpz.2_Silent_p.G164G|NOVA1_uc001wqa.2_Silent_p.G66G	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	191	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5				GBM - Glioblastoma multiforme(265;0.0135)		CACCTCCCTTCCCTATTATCA	0.413													T	26918125	C	T	26918125	2	4	28	1	0	0	0	0	0	0	0	1	10554	842	30	4		4	NOVA1	14	26918125	Silent	SNP	C	TCGA-BR-6453-01A-11D-1800-08	3043799	26918125	80431415	166	32886											
MARK3	4140	broad.mit.edu	37	chr14	103946722	103946722	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acaaaaatgcccttttttatAgagtaacacagcatctggtg	7	8	1	1	rs144221506	by1000genomes	TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr14:103946722A>T	uc001ymz.3	+	14	2149	c.1483_splice	c.e14-2	p.S495_splice	MARK3_uc001ymx.3_Splice_Site_p.S495_splice|MARK3_uc001ymw.3_Splice_Site_p.S495_splice|MARK3_uc001yna.3_Splice_Site_p.S479_splice|MARK3_uc001ymy.3_Splice_Site_p.S416_splice|MARK3_uc010awp.2_Splice_Site_p.S518_splice|MARK3_uc010tyb.1_Splice_Site_p.S290_splice|MARK3_uc010awq.2_Splice_Site_p.S25_splice	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3								ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|stomach(1)	4		Melanoma(154;0.155)	Epithelial(46;0.241)			CCTTTTTTATAGAGTAACACA	0.318													T	103946722	A	T	103946722	5	4	28	1	0	0	0	0	0	0	1	0	9314	434	15	5	1535	5	MARK3	14	103946722	Splice_Site	SNP	A	TCGA-BR-6453-01A-11D-1800-08	77028597	103946722	3402818	167	32887											
SNRPN	6638	broad.mit.edu	37	chr15	25220656	25220656	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgagttcagaaagatcaAgtaaggctgatttgggcaaa	12	4	2	5			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr15:25220656A>C	uc001ywp.1	+	8	1045	c.155A>C	c.(154-156)AAG>ACG	p.K52T	SNRPN_uc001ywq.1_Missense_Mutation_p.K52T|SNRPN_uc001ywr.1_Missense_Mutation_p.K52T|SNRPN_uc001yws.1_Missense_Mutation_p.K52T|SNRPN_uc001ywt.1_Missense_Mutation_p.K52T|SNRPN_uc001ywv.1_Missense_Mutation_p.K55T|SNRPN_uc001yww.1_Missense_Mutation_p.K52T|SNRPN_uc001ywx.1_Missense_Mutation_p.K52T|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	NM_022807	NP_073718	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	52					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		AGAAAGATCAAGTAAGGCTGA	0.463									Prader-Willi_syndrome				C	25220656	A	C	25220656	3	2	28	1	0	0	0	0	1	0	0	0	14870	86	3	5	161	5	SNRPN	15	25220656	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08		25220656	77310736	168	32888											
GABRA5	2558	broad.mit.edu	37	chr15	27128556	27128556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtttaaggggcccatgcagCgcctccctctcaacaacctc	9	16	1	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr15:27128556C>T	uc001zbd.1	+	7	688	c.349C>T	c.(349-351)CGC>TGC	p.R117C	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	117	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCCCATGCAGCGCCTCCCTCT	0.537													T	27128556	C	T	27128556	3	4	28	1	0	0	0	0	1	0	0	0	6164	768	27	1	363	1	GABRA5	15	27128556	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	1907900	27128556	75402836	169	32889											
RPUSD2	27079	broad.mit.edu	37	chr15	40866003	40866003	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctacaactcagttgcctGgggtccttctcgaggccggg	12	13	3	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr15:40866003G>A	uc001zmd.1	+	3	1181	c.1181G>A	c.(1180-1182)TGG>TAG	p.W394*		NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing	394					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			skin(1)	1		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TCAGTTGCCTGGGGTCCTTCT	0.597													A	40866003	G	A	40866003	4	1	28	1	0	0	0	0	0	1	0	0	13667	1357	47	4	1191	4	RPUSD2	15	40866003	Nonsense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	13737447	40866003	61665389	170	32890											
SECISBP2L	9728	broad.mit.edu	37	chr15	49325260	49325260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctacatttttcaccagcGgccttttgctttttatgtgc	7	10	1	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr15:49325260G>A	uc001zxe.1	-	4	700	c.566C>T	c.(565-567)CCG>CTG	p.P189L	SECISBP2L_uc001zxd.1_Missense_Mutation_p.P189L|SECISBP2L_uc010bep.1_5'UTR|SECISBP2L_uc010beq.1_Missense_Mutation_p.P189L	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	189										breast(1)|skin(1)	2						TTTCACCAGCGGCCTTTTGCT	0.348													A	49325260	G	A	49325260	3	1	28	1	0	0	0	0	1	0	0	0	14007	1116	39	1	2660	1	SECISBP2L	15	49325260	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	8459257	49325260	53206132	171	32891											
ATP8B4	79895	broad.mit.edu	37	chr15	50189507	50189507	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acctgggctgagaaaccacaGaagaaaccaaaccagaaatg	9	10	0	4			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr15:50189507G>A	uc001zxu.2	-	23	2821	c.2679C>T	c.(2677-2679)TTC>TTT	p.F893F	ATP8B4_uc010ber.2_Silent_p.F766F|ATP8B4_uc010ufd.1_Silent_p.F703F|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxv.1_Silent_p.F191F	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	893	Extracellular (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGAAACCACAGAAGAAACCAA	0.299													A	50189507	G	A	50189507	2	1	28	1	0	0	0	0	0	0	0	1	1197	933	33	4		4	ATP8B4	15	50189507	Silent	SNP	G	TCGA-BR-6453-01A-11D-1800-08	864247	50189507	52341885	172	32892											
RASGRF1	5923	broad.mit.edu	37	chr15	79356827	79356827	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctctgtcctcagctccaaGgctttctggttctcatggct	8	14	4	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr15:79356827G>T	uc002beq.2	-	2	693	c.318C>A	c.(316-318)GCC>GCA	p.A106A	RASGRF1_uc002bep.2_Silent_p.A106A|RASGRF1_uc010blm.1_Silent_p.A28A|RASGRF1_uc002ber.3_Silent_p.A106A	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	106	PH 1.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						TCAGCTCCAAGGCTTTCTGGT	0.512													T	79356827	G	T	79356827	2	4	28	1	0	0	0	0	0	0	0	1	13072	987	35	5		5	RASGRF1	15	79356827	Silent	SNP	G	TCGA-BR-6453-01A-11D-1800-08	29167320	79356827	23174565	173	32893											
GRIN2A	2903	broad.mit.edu	37	chr16	9857275	9857275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatctcccaataaccaagcGttggtcatccctgtgggagt	10	12	2	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr16:9857275G>A	uc002czo.3	-	13	4674	c.4126C>T	c.(4126-4128)CGC>TGC	p.R1376C	GRIN2A_uc010uym.1_Missense_Mutation_p.R1376C|GRIN2A_uc010uyn.1_Silent_p.N1104N|GRIN2A_uc002czr.3_Silent_p.N1261N	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1376	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATAACCAAGCGTTGGTCATCC	0.562													A	9857275	G	A	9857275	3	1	28	1	0	0	0	0	1	0	0	0	6779	1145	40	1	272	1	GRIN2A	16	9857275	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08		9857275	80497478	174	32894											
IL21R	50615	broad.mit.edu	37	chr16	27460390	27460390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggactgccctggggtggccGgtcacctggaggggtctcag	19	11	2	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr16:27460390G>A	uc002doq.1	+	9	1636	c.1403G>A	c.(1402-1404)CGG>CAG	p.R468Q	IL21R_uc002dor.1_Missense_Mutation_p.R468Q|IL21R_uc002dos.1_Missense_Mutation_p.R468Q|uc002dot.2_RNA	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	468	Cytoplasmic (Potential).				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4						TGGGGTGGCCGGTCACCTGGA	0.662			T	BCL6	NHL								A	27460390	G	A	27460390	3	1	28	1	0	0	0	0	1	0	0	0	7671	1116	39	1	1433	1	IL21R	16	27460390	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	17603115	27460390	62894363	175	32895											
SRCAP	10847	broad.mit.edu	37	chr16	30727524	30727524	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttcatggcacagaccacGtaagggaggaaggagggtgg	17	7	1	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr16:30727524G>A	uc002dze.1	+	17	3015	c.2630_splice	c.e17+1	p.T877_splice	SRCAP_uc002dzf.2_Splice_Site|SRCAP_uc002dzg.1_Splice_Site_p.T734_splice|SRCAP_uc010bzz.1_Splice_Site_p.T447_splice	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein						interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CACAGACCACGTAAGGGAGGA	0.507													A	30727524	G	A	30727524	5	1	28	1	0	0	0	0	0	0	1	0	15134	1159	40	1	2689	1	SRCAP	16	30727524	Splice_Site	SNP	G	TCGA-BR-6453-01A-11D-1800-08	3267134	30727524	59627229	176	32896											
MYST1	84148	broad.mit.edu	37	chr16	31131665	31131665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccatacttacagttaacCggcggctggacgagtgggta	14	10	0	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr16:31131665C>T	uc002eay.2	+	3	310	c.292C>T	c.(292-294)CGG>TGG	p.R98W	MYST1_uc002eax.2_Missense_Mutation_p.R98W	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	MYST histone acetyltransferase 1 isoform 1	98	Chromo.				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding			ovary(1)	1						TACAGTTAACCGGCGGCTGGA	0.577													T	31131665	C	T	31131665	3	4	28	1	0	0	0	0	1	0	0	0	10102	643	23	1	302	1	MYST1	16	31131665	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	404141	31131665	59223088	177	32897											
MT1H	4496	broad.mit.edu	37	chr16	56703730	56703730	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaactgttgcgctccaccaCgccctccacgtgttccactg	7	19	0	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr16:56703730C>T	uc002ejw.2	+	1	5	c.-66C>T	c.(-68--64)CACGC>CATGC		MT1G_uc002eju.1_5'Flank|MT1G_uc002ejv.1_5'Flank	NM_005951	NP_005942	P80294	MT1H_HUMAN	metallothionein 1H								metal ion binding|protein binding				0						CGCTCCACCACGCCCTCCACG	0.627													T	56703730	C	T	56703730	1	4	28	1	0	0	0	0	0	0	0	0	9902	551	19	1		1	MT1H	16	56703730	Translation_Start_Site	SNP	C	TCGA-BR-6453-01A-11D-1800-08	25572065	56703730	33651023	178	32898											
LCAT	3931	broad.mit.edu	37	chr16	67976469	67976469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccagccctgcgagcttgCggtagtactcctcctgctgg	11	16	0	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr16:67976469C>T	uc002euy.1	-	5	556	c.545G>A	c.(544-546)CGC>CAC	p.R182H		NM_000229	NP_000220	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase precursor	182			R -> C.		cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		TGCGAGCTTGCGGTAGTACTC	0.637													T	67976469	C	T	67976469	3	4	28	1	0	0	0	0	1	0	0	0	8658	768	27	1	785	1	LCAT	16	67976469	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	11272739	67976469	22378284	179	32899											
WWP2	11060	broad.mit.edu	37	chr16	69922098	69922098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggagaggaacccagcacttCgggtacacagcagctcccag	12	13	0	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr16:69922098C>T	uc002exu.1	+	9	949	c.860C>T	c.(859-861)TCG>TTG	p.S287L	WWP2_uc002ext.2_Missense_Mutation_p.S287L|WWP2_uc002exv.1_Missense_Mutation_p.S287L|WWP2_uc010vlm.1_Missense_Mutation_p.S171L	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	287					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			lung(3)|ovary(1)|breast(1)|skin(1)	6						CCCAGCACTTCGGGTACACAG	0.617													T	69922098	C	T	69922098	3	4	28	1	0	0	0	0	1	0	0	0	17413	893	31	1	886	1	WWP2	16	69922098	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	1945629	69922098	20432655	180	32900											
ITGAE	3682	broad.mit.edu	37	chr17	3631275	3631275	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcgtaatttggttgggacgcAaatttgcaactggtattctg	11	6	1	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr17:3631275A>T	uc002fwo.3	-	26	3121	c.3022T>A	c.(3022-3024)TGC>AGC	p.C1008S		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	1008	Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GTTGGGACGCAAATTTGCAAC	0.433													T	3631275	A	T	3631275	3	4	28	1	0	0	0	0	1	0	0	0	7885	130	5	5	541	5	ITGAE	17	3631275	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08		3631275	77563935	181	32901											
KCNAB3	9196	broad.mit.edu	37	chr17	7826435	7826435	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagactacttcttggaatgCggcttgtttcccaggagccc	10	12	1	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr17:7826435C>T	uc002gjm.1	-	14	1200	c.1200G>A	c.(1198-1200)CCG>CCA	p.P400P	KCNAB3_uc010vul.1_RNA	NM_004732	NP_004723	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related	400						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(1)	1		Prostate(122;0.157)				TCTTGGAATGCGGCTTGTTTC	0.677													T	7826435	C	T	7826435	2	4	28	1	0	0	0	0	0	0	0	1	8011	755	27	1		1	KCNAB3	17	7826435	Silent	SNP	C	TCGA-BR-6453-01A-11D-1800-08	4195160	7826435	73368775	182	32902											
TEKT3	64518	broad.mit.edu	37	chr17	15211982	15211982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcccctcccaccttaccGtagctgagccatgtctcggc	7	19	1	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr17:15211982G>A	uc002gon.2	-	8	1442	c.1255C>T	c.(1255-1257)CGC>TGC	p.R419C		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	tektin 3	419	Potential.				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CCACCTTACCGTAGCTGAGCC	0.587													A	15211982	G	A	15211982	3	1	28	1	0	0	0	0	1	0	0	0	15751	1159	40	1	225	1	TEKT3	17	15211982	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	7385547	15211982	65983228	183	32903											
UNC45B	146862	broad.mit.edu	37	chr17	33495277	33495277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctcatccatgcctccaCgaagctcagccgcgccacct	8	20	2	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr17:33495277C>T	uc002hja.2	+	10	1446	c.1349C>T	c.(1348-1350)ACG>ATG	p.T450M	UNC45B_uc002hjb.2_Missense_Mutation_p.T450M|UNC45B_uc002hjc.2_Missense_Mutation_p.T450M|UNC45B_uc010cto.2_Missense_Mutation_p.T450M	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	450					cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)				CATGCCTCCACGAAGCTCAGC	0.552													T	33495277	C	T	33495277	3	4	28	1	0	0	0	0	1	0	0	0	16986	536	19	1	1383	1	UNC45B	17	33495277	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	18283295	33495277	47699933	184	32904											
TMEM99	147184	broad.mit.edu	37	chr17	38990822	38990822	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcccctcgctctgttgTtccagctatgtgccctctgt	9	14	2	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr17:38990822T>C	uc002hvj.1	+	3	361	c.54T>C	c.(52-54)TGT>TGC	p.C18C		NM_145274	NP_660317	Q8N816	TMM99_HUMAN	transmembrane protein 99 precursor	18						integral to membrane				skin(1)	1		Breast(137;0.000301)				CGCTCTGTTGTTCCAGCTATG	0.557													C	38990822	T	C	38990822	2	2	28	1	0	0	0	0	0	0	0	1	16223	1731	60	3		3	TMEM99	17	38990822	Silent	SNP	T	TCGA-BR-6453-01A-11D-1800-08	5495545	38990822	42204388	185	32905											
KIF2B	84643	broad.mit.edu	37	chr17	51901928	51901928	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actcctttataggccagaacTcctccacttgcatgattgct	6	13	0	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr17:51901928T>G	uc002iua.2	+	1	1690	c.1534T>G	c.(1534-1536)TCC>GCC	p.S512A	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	512					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						AGGCCAGAACTCCTCCACTTG	0.448													G	51901928	T	G	51901928	3	3	28	1	0	0	0	0	1	0	0	0	8298	1551	54	5	1536	5	KIF2B	17	51901928	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	12911106	51901928	29293282	186	32906											
CCDC46	201134	broad.mit.edu	37	chr17	64059183	64059183	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctgataacttgacagtcAcgtatcagtgtctgaactgt	8	9	4	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr17:64059183A>C	uc002jfl.2	-	11	1191	c.972T>G	c.(970-972)CGT>CGG	p.R324R	CCDC46_uc010deo.2_Silent_p.R66R|CCDC46_uc002jfm.2_Silent_p.R324R|CCDC46_uc010dep.2_Silent_p.R282R	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	coiled-coil domain containing 46 isoform a	324	Potential.					centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)			CTTGACAGTCACGTATCAGTG	0.333													C	64059183	A	C	64059183	2	2	28	1	0	0	0	0	0	0	0	1	2817	146	6	5		5	CCDC46	17	64059183	Silent	SNP	A	TCGA-BR-6453-01A-11D-1800-08	12157255	64059183	17136027	187	32907											
ABCA5	23461	broad.mit.edu	37	chr17	67300886	67300886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaataacaaagaagctgtcGcaatgactgccataagaagg	10	7	0	3	rs140650277	byFrequency	TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr17:67300886G>A	uc002jif.2	-	6	2072	c.854C>T	c.(853-855)GCG>GTG	p.A285V	ABCA5_uc002jie.2_5'Flank|ABCA5_uc002jig.2_Missense_Mutation_p.A285V|ABCA5_uc002jih.2_Missense_Mutation_p.A285V|ABCA5_uc010dfe.2_Missense_Mutation_p.A285V	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	285					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					AGAAGCTGTCGCAATGACTGC	0.323													A	67300886	G	A	67300886	3	1	28	1	0	0	0	0	1	0	0	0	35	1087	38	1	4206	1	ABCA5	17	67300886	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	3241703	67300886	13894324	188	32908											
ITGB4	3691	broad.mit.edu	37	chr17	73727404	73727404	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggtcacctccaagatgttCcagaagacgaggactgggtc	13	10	1	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr17:73727404C>T	uc002jpg.2	+	10	1357	c.1170C>T	c.(1168-1170)TTC>TTT	p.F390F	ITGB4_uc002jph.2_Silent_p.F390F|ITGB4_uc010dgo.2_Silent_p.F390F|ITGB4_uc002jpi.3_Silent_p.F390F|ITGB4_uc010dgp.1_Silent_p.F390F|ITGB4_uc002jpj.2_Silent_p.F390F|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	390	Extracellular (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCAAGATGTTCCAGAAGACGA	0.642													T	73727404	C	T	73727404	2	4	28	1	0	0	0	0	0	0	0	1	7897	854	30	4		4	ITGB4	17	73727404	Silent	SNP	C	TCGA-BR-6453-01A-11D-1800-08	6426518	73727404	7467806	189	32909											
UBE2O	63893	broad.mit.edu	37	chr17	74396572	74396572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggggggctgacgctgtcCgtgccccctggacagaaact	16	12	0	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr17:74396572C>T	uc002jrm.3	-	7	1019	c.954G>A	c.(952-954)ACG>ACA	p.T318T	UBE2O_uc002jrn.3_Silent_p.T318T|UBE2O_uc002jrl.3_5'Flank	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	318							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						TGACGCTGTCCGTGCCCCCTG	0.602													T	74396572	C	T	74396572	2	4	28	1	0	0	0	0	0	0	0	1	16865	639	23	1		1	UBE2O	17	74396572	Silent	SNP	C	TCGA-BR-6453-01A-11D-1800-08	669168	74396572	6798638	190	32910											
COLEC12	81035	broad.mit.edu	37	chr18	333120	333120	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atagtagcatttgtctgtgaAgttcttccagtgaggcgggc	13	7	2	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr18:333120A>C	uc002kkm.2	-	7	2055	c.1840T>G	c.(1840-1842)TTC>GTC	p.F614V		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	614	Extracellular (Potential).|C-type lectin.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TTGTCTGTGAAGTTCTTCCAG	0.388													C	333120	A	C	333120	3	2	28	1	0	0	0	0	1	0	0	0	3712	72	3	5	404	5	COLEC12	18	333120	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08		333120	77744128	191	32911											
LAMA1	284217	broad.mit.edu	37	chr18	7050779	7050779	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaggtgggtggccctcgtcTtggagttatattgtaacgag	15	6	1	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr18:7050779T>C	uc002knm.2	-	4	596	c.502A>G	c.(502-504)AGA>GGA	p.R168G	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	168	Laminin N-terminal.				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)	GGCCCTCGTCTTGGAGTTATA	0.512													C	7050779	T	C	7050779	3	2	28	1	0	0	0	0	1	0	0	0	8605	1617	56	3	8965	3	LAMA1	18	7050779	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	6717659	7050779	71026469	192	32912											
LRRC30	339291	broad.mit.edu	37	chr18	7231390	7231390	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctcacaaccagctccgggTtctccctcccgaggtgggga	12	15	2	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr18:7231390T>G	uc010wzk.1	+	1	254	c.254T>G	c.(253-255)GTT>GGT	p.V85G		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	85	LRR 1.									ovary(1)|liver(1)	2						CAGCTCCGGGTTCTCCCTCCC	0.587													G	7231390	T	G	7231390	3	3	28	1	0	0	0	0	1	0	0	0	8985	1725	60	5	256	5	LRRC30	18	7231390	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	180611	7231390	70845858	193	32913											
ASXL3	80816	broad.mit.edu	37	chr18	31319840	31319840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgctcctgaagcatttccGtctgaagatttgcacaataa	7	9	1	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr18:31319840G>A	uc010dmg.1	+	11	2527	c.2472G>A	c.(2470-2472)CCG>CCA	p.P824P	ASXL3_uc002kxq.2_Silent_p.P531P	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	824					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						AAGCATTTCCGTCTGAAGATT	0.448													A	31319840	G	A	31319840	2	1	28	1	0	0	0	0	0	0	0	1	1068	1132	40	1		1	ASXL3	18	31319840	Silent	SNP	G	TCGA-BR-6453-01A-11D-1800-08	24088450	31319840	46757408	194	32914											
RIT2	6014	broad.mit.edu	37	chr18	40323518	40323518	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcttcttccacaggctgtcTtttctcttcagtttcttttc	5	12	5	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr18:40323518T>G	uc002lav.2	-	5	767	c.594A>C	c.(592-594)AAA>AAC	p.K198N	RIT2_uc010dnf.2_3'UTR	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	198					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			ovary(1)	1						ACAGGCTGTCTTTTCTCTTCA	0.398													G	40323518	T	G	40323518	3	3	28	1	0	0	0	0	1	0	0	0	13387	1606	56	5	63	5	RIT2	18	40323518	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	9003678	40323518	37753730	195	32915											
MUC16	94025	broad.mit.edu	37	chr19	9086015	9086015	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaaaaaggcaatgttaAgcttatggccctgtttccag	11	7	0	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr19:9086015A>C	uc002mkp.2	-	1	6004	c.5800T>G	c.(5800-5802)TTA>GTA	p.L1934V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1934	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGCAATGTTAAGCTTATGGCC	0.483													C	9086015	A	C	9086015	3	2	28	1	0	0	0	0	1	0	0	0	9973	69	3	5	38059	5	MUC16	19	9086015	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08		9086015	50042968	196	32916											
CPAMD8	27151	broad.mit.edu	37	chr19	17091456	17091456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacagggtaaagttgcagGgacatgtggacttcacagaa	13	6	1	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr19:17091456G>A	uc002nfb.2	-	14	1609	c.1577C>T	c.(1576-1578)CCC>CTC	p.P526L		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	479						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						AAAGTTGCAGGGACATGTGGA	0.582													A	17091456	G	A	17091456	3	1	28	1	0	0	0	0	1	0	0	0	3795	1232	43	4	4337	4	CPAMD8	19	17091456	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	8005441	17091456	42037527	197	32917											
CILP2	148113	broad.mit.edu	37	chr19	19655627	19655627	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcgagcaggtggagggcgTggtggtcacgctggtcaatc	18	9	2	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr19:19655627T>C	uc002nmv.3	+	8	2358	c.2273T>C	c.(2272-2274)GTG>GCG	p.V758A	CILP2_uc002nmw.3_Missense_Mutation_p.V764A	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	758						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						GTGGAGGGCGTGGTGGTCACG	0.697													C	19655627	T	C	19655627	3	2	28	1	0	0	0	0	1	0	0	0	3430	1696	59	3	2303	3	CILP2	19	19655627	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	2564171	19655627	39473356	198	32918											
ZNF486	90649	broad.mit.edu	37	chr19	20308606	20308606	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagccttcacccgctccTcacaccttactatgcataag	5	16	2	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr19:20308606T>C	uc002nou.2	+	4	1144	c.1087T>C	c.(1087-1089)TCA>CCA	p.S363P		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	zinc finger protein 486	363	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CACCCGCTCCTCACACCTTAC	0.418													C	20308606	T	C	20308606	3	2	28	1	0	0	0	0	1	0	0	0	17936	1551	54	3	1101	3	ZNF486	19	20308606	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	652979	20308606	38820377	199	32919											
ZNF43	7594	broad.mit.edu	37	chr19	21992583	21992583	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatatgctgctctggccaaaAgtcttgggtaaaatgagaac	10	7	2	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr19:21992583A>C	uc002nqj.2	-	4	386	c.256T>G	c.(256-258)TTT>GTT	p.F86V	ZNF43_uc010ecv.2_Missense_Mutation_p.F80V|ZNF43_uc002nql.2_Missense_Mutation_p.F80V|ZNF43_uc002nqm.2_Missense_Mutation_p.F80V|ZNF43_uc002nqk.2_Missense_Mutation_p.F16V	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCTGGCCAAAAGTCTTGGGTA	0.279													C	21992583	A	C	21992583	3	2	28	1	0	0	0	0	1	0	0	0	17900	72	3	5	2177	5	ZNF43	19	21992583	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	1683977	21992583	37136400	200	32920											
ZNF99	7652	broad.mit.edu	37	chr19	22941726	22941726	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaattatctgatgttttcTaagggctgagaaatggttaa	10	3	2	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr19:22941726T>C	uc010xrh.1	-	5	712	c.712A>G	c.(712-714)AGA>GGA	p.R238G		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGATGTTTTCTAAGGGCTGAG	0.383													C	22941726	T	C	22941726	3	2	28	1	0	0	0	0	1	0	0	0	18201	1530	53	3	2412	3	ZNF99	19	22941726	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	949143	22941726	36187257	201	32921											
SNRPA	6626	broad.mit.edu	37	chr19	41263238	41263238	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttttttcccccactgcagaGctaaaaaagtccctgtacgc	6	13	0	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr19:41263238G>C	uc002ooz.2	+	2	610	c.75G>C	c.(73-75)GAG>GAC	p.E25D	SNRPA_uc002opa.2_5'UTR	NM_004596	NP_004587	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	25	RRM 1.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			skin(2)|ovary(1)|central_nervous_system(1)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCACTGCAGAGCTAAAAAAGT	0.507													C	41263238	G	C	41263238	3	2	28	1	0	0	0	0	1	0	0	0	14859	985	34	5	81	5	SNRPA	19	41263238	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	18321512	41263238	17865745	202	32922											
FPR2	2358	broad.mit.edu	37	chr19	52272262	52272262	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtgtcttcttgattggTttcattgcactggaccgctg	12	8	3	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr19:52272262T>G	uc002pxr.2	+	2	396	c.351T>G	c.(349-351)GGT>GGG	p.G117G	FPR2_uc002pxs.3_Silent_p.G117G|FPR2_uc010epf.2_Silent_p.G117G	NM_001005738	NP_001005738	P25090	FPR2_HUMAN	formyl peptide receptor-like 1	117	Helical; Name=3; (Potential).				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(3)|ovary(1)	4						TCTTGATTGGTTTCATTGCAC	0.512													G	52272262	T	G	52272262	2	3	28	1	0	0	0	0	0	0	0	1	6039	1712	60	5		5	FPR2	19	52272262	Silent	SNP	T	TCGA-BR-6453-01A-11D-1800-08	11009024	52272262	6856721	203	32923											
ZNF649	65251	broad.mit.edu	37	chr19	52394692	52394692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacaagctacacccgtgggGtttctctcctctgtgagctc	9	14	2	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr19:52394692G>A	uc002pxy.2	-	5	965	c.697C>T	c.(697-699)CCC>TCC	p.P233S	ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	zinc finger protein 649	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CACCCGTGGGGTTTCTCTCCT	0.507													A	52394692	G	A	52394692	3	1	28	1	0	0	0	0	1	0	0	0	18061	1261	44	4	824	4	ZNF649	19	52394692	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	122430	52394692	6734291	204	32924											
ZSCAN1	284312	broad.mit.edu	37	chr19	58565060	58565060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgtgggccccgaggtgggCggcccttccagtgtgccgac	17	15	0	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr19:58565060C>T	uc002qrc.1	+	6	1115	c.868C>T	c.(868-870)CGG>TGG	p.R290W		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	290					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCGAGGTGGGCGGCCCTTCCA	0.652													T	58565060	C	T	58565060	3	4	28	1	0	0	0	0	1	0	0	0	18223	759	27	1	882	1	ZSCAN1	19	58565060	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	6170368	58565060	563923	205	32925											
NOP56	10528	broad.mit.edu	37	chr20	2635158	2635158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatcccaagattggtgccGcaatacaggaggagttaggg	16	7	0	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr20:2635158G>A	uc002wgh.2	+	4	360	c.307G>A	c.(307-309)GCA>ACA	p.A103T	NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_5'UTR|SNORA51_uc002wgk.1_5'Flank|NOP56_uc002wgm.1_5'Flank|SNORD86_uc010gaq.1_5'Flank|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank	NM_006392	NP_006383	O00567	NOP56_HUMAN	nucleolar protein 5A	103					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2						GATTGGTGCCGCAATACAGGA	0.517													A	2635158	G	A	2635158	3	1	28	1	0	0	0	0	1	0	0	0	10539	1087	38	1	321	1	NOP56	20	2635158	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08		2635158	60390362	206	32926											
SLC32A1	140679	broad.mit.edu	37	chr20	37356678	37356678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctcagatcttcctgccttCgctggagggcaatatgcagc	11	12	2	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr20:37356678C>T	uc002xjc.2	+	2	1237	c.974C>T	c.(973-975)TCG>TTG	p.S325L		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	325	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TTCCTGCCTTCGCTGGAGGGC	0.572													T	37356678	C	T	37356678	3	4	28	1	0	0	0	0	1	0	0	0	14565	893	31	1	980	1	SLC32A1	20	37356678	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	34721520	37356678	25668842	207	32927											
ADRBK2	157	broad.mit.edu	37	chr22	26100174	26100174	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctgggctgtcacggaggCgggtaggccattgttcctgc	17	11	1	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr22:26100174C>T	uc003abx.3	+	15	1473	c.1326C>T	c.(1324-1326)GGC>GGT	p.G442G	ADRBK2_uc010gux.2_Silent_p.G442G|ADRBK2_uc003abw.2_Silent_p.G329G|ADRBK2_uc003aby.3_RNA	NM_005160	NP_005151	P35626	ARBK2_HUMAN	beta-adrenergic receptor kinase 2	442	Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7					Adenosine triphosphate(DB00171)	GTCACGGAGGCGGGTAGGCCA	0.463													T	26100174	C	T	26100174	2	4	28	1	0	0	0	0	0	0	0	1	344	755	27	1		1	ADRBK2	22	26100174	Silent	SNP	C	TCGA-BR-6453-01A-11D-1800-08		26100174	25204392	208	32928											
ZMAT5	55954	broad.mit.edu	37	chr22	30136716	30136716	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agttggagccaaagtcgcacTggcctgcagcaggaagacag	14	10	0	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr22:30136716T>G	uc003agm.2	-	5	445	c.194A>C	c.(193-195)CAG>CCG	p.Q65P	ZMAT5_uc003agn.2_Missense_Mutation_p.Q65P	NM_019103	NP_061976	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin type 5	65	C3H1-type.				mRNA processing	cytoplasm|U12-type spliceosomal complex	nucleic acid binding|zinc ion binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			AAAGTCGCACTGGCCTGCAGC	0.622													G	30136716	T	G	30136716	3	3	28	1	0	0	0	0	1	0	0	0	17692	1580	55	5	330	5	ZMAT5	22	30136716	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	4036542	30136716	21167850	209	32929											
TMPRSS6	164656	broad.mit.edu	37	chr22	37482353	37482353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccggctgcacggagagcaCgaaggggtcgtagtagctgt	16	10	0	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr22:37482353C>T	uc003aqs.1	-	8	1084	c.970G>A	c.(970-972)GTG>ATG	p.V324M	TMPRSS6_uc003aqt.1_Missense_Mutation_p.V315M|TMPRSS6_uc003aqu.2_Missense_Mutation_p.V315M	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	324	CUB 1.|Extracellular (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)|skin(1)	6						ACGGAGAGCACGAAGGGGTCG	0.677													T	37482353	C	T	37482353	3	4	28	1	0	0	0	0	1	0	0	0	16248	536	19	1	1509	1	TMPRSS6	22	37482353	Missense_Mutation	SNP	C	TCGA-BR-6453-01A-11D-1800-08	7345637	37482353	13822213	210	32930											
CACNA1I	8911	broad.mit.edu	37	chr22	40055734	40055734	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggactggaacgtcgttctCtacaatggcatggcctccac	11	12	1	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr22:40055734C>T	uc003ayc.2	+	14	2481	c.2481C>T	c.(2479-2481)CTC>CTT	p.L827L	CACNA1I_uc003ayd.2_Silent_p.L792L|CACNA1I_uc003aye.2_Silent_p.L742L|CACNA1I_uc003ayf.2_Silent_p.L707L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	827	Extracellular (Potential).|II.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACGTCGTTCTCTACAATGGCA	0.582													T	40055734	C	T	40055734	2	4	28	1	0	0	0	0	0	0	0	1	2546	900	32	4		4	CACNA1I	22	40055734	Silent	SNP	C	TCGA-BR-6453-01A-11D-1800-08	2573381	40055734	11248832	211	32931											
MPPED1	758	broad.mit.edu	37	chr22	43831011	43831011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctacacccgcttcgtctgCgtctctgatacccactcgag	9	16	2	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chr22:43831011C>T	uc011apv.1	+	3	505	c.282C>T	c.(280-282)TGC>TGT	p.C94C	MPPED1_uc011apw.1_5'UTR|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Silent_p.C94C|MPPED1_uc011apz.1_Silent_p.C127C	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	94							hydrolase activity				0		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCTTCGTCTGCGTCTCTGATA	0.652													T	43831011	C	T	43831011	2	4	28	1	0	0	0	0	0	0	0	1	9741	776	27	1		1	MPPED1	22	43831011	Silent	SNP	C	TCGA-BR-6453-01A-11D-1800-08	3775277	43831011	7473555	212	32932											
ZNF674	641339	broad.mit.edu	37	chrX	46359574	46359574	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattctctgatgtttaatcaGtggtgacttctcactaaagg	8	7	3	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chrX:46359574G>A	uc004dgr.2	-	6	1677	c.1450C>T	c.(1450-1452)CTG>TTG	p.L484L	ZNF674_uc011mlg.1_Silent_p.L478L	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN	zinc finger family member 674 isoform 1	484	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						TGTTTAATCAGTGGTGACTTC	0.413													A	46359574	G	A	46359574	2	1	28	1	0	0	0	0	0	0	0	1	18078	1020	36	4		4	ZNF674	23	46359574	Silent	SNP	G	TCGA-BR-6453-01A-11D-1800-08		46359574	108910986	213	32933											
FAM123B	139285	broad.mit.edu	37	chrX	63410103	63410103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggtgtaggtgtgagggacGagctagttgaggcccagatt	17	6	0	3			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chrX:63410103G>A	uc004dvo.2	-	2	3337	c.3064C>T	c.(3064-3066)CGT>TGT	p.R1022C		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	1022	Pro-rich.				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						TGTGAGGGACGAGCTAGTTGA	0.567													A	63410103	G	A	63410103	3	1	28	1	0	0	0	0	1	0	0	0	5423	1058	37	1	347	1	FAM123B	23	63410103	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	17050529	63410103	91860457	214	32934											
FAM46D	169966	broad.mit.edu	37	chrX	79698310	79698310	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgttatttttggtgttgagcTtccaggtaacgaagaatttc	10	6	0	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chrX:79698310T>A	uc004edl.1	+	5	606	c.272T>A	c.(271-273)CTT>CAT	p.L91H	FAM46D_uc004edm.1_Missense_Mutation_p.L91H	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	hypothetical protein LOC169966	91										lung(2)	2						GGTGTTGAGCTTCCAGGTAAC	0.393													A	79698310	T	A	79698310	3	1	28	1	0	0	0	0	1	0	0	0	5568	1609	56	5	274	5	FAM46D	23	79698310	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	16288207	79698310	75572250	215	32935											
PCDH11X	27328	broad.mit.edu	37	chrX	91131988	91131988	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacaaccacccagtctttaAggagacagagattgaagtca	9	9	2	4			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chrX:91131988A>C	uc004efk.1	+	2	1594	c.749A>C	c.(748-750)AAG>ACG	p.K250T	PCDH11X_uc004efl.1_Missense_Mutation_p.K250T|PCDH11X_uc004efo.1_Missense_Mutation_p.K250T|PCDH11X_uc010nmv.1_Missense_Mutation_p.K250T|PCDH11X_uc004efm.1_Missense_Mutation_p.K250T|PCDH11X_uc004efn.1_Missense_Mutation_p.K250T|PCDH11X_uc004efh.1_Missense_Mutation_p.K250T|PCDH11X_uc004efj.1_Missense_Mutation_p.K250T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	250	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						CCAGTCTTTAAGGAGACAGAG	0.428													C	91131988	A	C	91131988	3	2	28	1	0	0	0	0	1	0	0	0	11508	72	3	5	755	5	PCDH11X	23	91131988	Missense_Mutation	SNP	A	TCGA-BR-6453-01A-11D-1800-08	11433678	91131988	64138572	216	32936											
COL4A6	1288	broad.mit.edu	37	chrX	107430498	107430498	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcacctgggaagccctgTccaccatcaccctagacaac	6	16	2	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chrX:107430498T>C	uc004enw.3	-	23	1885	c.1782A>G	c.(1780-1782)GGA>GGG	p.G594G	COL4A6_uc004env.3_Silent_p.G593G|COL4A6_uc011msn.1_Silent_p.G593G|COL4A6_uc010npk.2_Silent_p.G593G	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	594	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						GGAAGCCCTGTCCACCATCAC	0.488									Alport_syndrome_with_Diffuse_Leiomyomatosis				C	107430498	T	C	107430498	2	2	28	1	0	0	0	0	0	0	0	1	3695	1654	58	3		3	COL4A6	23	107430498	Silent	SNP	T	TCGA-BR-6453-01A-11D-1800-08	16298510	107430498	47840062	217	32937											
IRS4	8471	broad.mit.edu	37	chrX	107975834	107975834	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagagtcgaactgattAtcacgtctggcaaaatccat	10	8	2	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chrX:107975834A>G	uc004eoc.2	-	1	3774	c.3741T>C	c.(3739-3741)GAT>GAC	p.D1247D		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	1247						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CGAACTGATTATCACGTCTGG	0.473													G	107975834	A	G	107975834	2	3	28	1	0	0	0	0	0	0	0	1	7842	446	16	3		3	IRS4	23	107975834	Silent	SNP	A	TCGA-BR-6453-01A-11D-1800-08	545336	107975834	47294726	218	32938											
ODZ1	10178	broad.mit.edu	37	chrX	123615810	123615810	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atagtatttgtgagcaggacTtgtgctaaggaagagaaaag	13	3	0	2			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chrX:123615810T>G	uc004euj.2	-	21	3764	c.3700A>C	c.(3700-3702)AGT>CGT	p.S1234R	ODZ1_uc011muj.1_Missense_Mutation_p.S1240R|ODZ1_uc010nqy.2_Missense_Mutation_p.S1241R	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1234	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TGAGCAGGACTTGTGCTAAGG	0.393													G	123615810	T	G	123615810	3	3	28	1	0	0	0	0	1	0	0	0	10834	1609	56	5	4521	5	ODZ1	23	123615810	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	15639976	123615810	31654750	219	32939											
MAGEA10	4109	broad.mit.edu	37	chrX	151303021	151303021	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctacctgtagcgctagaacTtgcactggccatggcagtag	12	11	0	1			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chrX:151303021T>C	uc004ffk.2	-	5	1480	c.1072A>G	c.(1072-1074)AGT>GGT	p.S358G	MAGEA10_uc004ffl.2_Missense_Mutation_p.S358G	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	358											0	Acute lymphoblastic leukemia(192;6.56e-05)					GCGCTAGAACTTGCACTGGCC	0.403													C	151303021	T	C	151303021	3	2	28	1	0	0	0	0	1	0	0	0	9164	1609	56	3	41	3	MAGEA10	23	151303021	Missense_Mutation	SNP	T	TCGA-BR-6453-01A-11D-1800-08	27687211	151303021	3967539	220	32940											
LAGE3	8270	broad.mit.edu	37	chrX	153706704	153706704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctggtgccagggacccatGggcgatttccgcctccaagg	13	13	1	0			TCGA-BR-6453-01A-11D-1800-08	TCGA-BR-6453-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b656f146-54b5-4c34-aa07-b91551223217	e317bae9-ecab-466c-958c-64901ebfbb90	g.chrX:153706704G>A	uc004fln.1	-	2	577	c.235C>T	c.(235-237)CAT>TAT	p.H79Y		NM_006014	NP_006005	Q14657	LAGE3_HUMAN	L antigen family, member 3	79							protein binding				0	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGGACCCATGGGCGATTTCC	0.587													A	153706704	G	A	153706704	3	1	28	1	0	0	0	0	1	0	0	0	8601	1348	47	4	204	4	LAGE3	23	153706704	Missense_Mutation	SNP	G	TCGA-BR-6453-01A-11D-1800-08	2403683	153706704	1563856	221	32941											
KIAA1751	85452	broad.mit.edu	37	chr1	1896465	1896465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgtccatctttgtcccGcccacgggctttcggtccac	8	17	1	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr1:1896465G>A	uc001aim.1	-	13	1593	c.1437C>T	c.(1435-1437)GGC>GGT	p.G479G	KIAA1751_uc009vkz.1_Silent_p.G479G	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	479										pancreas(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TCTTTGTCCCGCCCACGGGCT	0.677													A	1896465	G	A	1896465	2	1	29	1	0	0	0	0	0	0	0	1	8256	1074	38	1		1	KIAA1751	1	1896465	Silent	SNP	G	TCGA-BR-6454-01A-11D-1800-08		1896465	247354156	1	32942											
GPR153	387509	broad.mit.edu	37	chr1	6311551	6311551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgcagagtgccatccaggGcgctgaggcgtcggcccgca	15	15	0	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr1:6311551G>A	uc001amp.1	-	4	1086	c.826C>T	c.(826-828)CCC>TCC	p.P276S	GPR153_uc001amo.1_5'Flank	NM_207370	NP_997253	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	276	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GCCATCCAGGGCGCTGAGGCG	0.697													A	6311551	G	A	6311551	3	1	29	1	0	0	0	0	1	0	0	0	6659	1203	42	2	1015	2	GPR153	1	6311551	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	4415086	6311551	242939070	2	32943											
MIIP	60672	broad.mit.edu	37	chr1	12081808	12081808	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggaggctgaggaactggcaCagctgcggctgctcaatctg	15	10	2	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr1:12081808C>G	uc001ato.1	+	2	205	c.25C>G	c.(25-27)CAG>GAG	p.Q9E		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	invasion inhibitory protein 45	9										ovary(1)	1						GGAACTGGCACAGCTGCGGCT	0.682													G	12081808	C	G	12081808	3	3	29	1	0	0	0	0	1	0	0	0	9585	479	17	5	27	5	MIIP	1	12081808	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	5770257	12081808	237168813	3	32944											
VAV3	10451	broad.mit.edu	37	chr1	108307785	108307785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccactgcagtactgcccGtaaataaccaatctgaaagg	7	12	1	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr1:108307785G>A	uc001dvk.1	-	9	888	c.834C>T	c.(832-834)TAC>TAT	p.Y278Y	VAV3_uc010ouw.1_Silent_p.Y278Y|VAV3_uc001dvl.1_Silent_p.Y102Y|VAV3_uc010oux.1_Silent_p.Y278Y	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	278	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AGTACTGCCCGTAAATAACCA	0.373													A	108307785	G	A	108307785	2	1	29	1	0	0	0	0	0	0	0	1	17130	1140	40	1		1	VAV3	1	108307785	Silent	SNP	G	TCGA-BR-6454-01A-11D-1800-08	96225977	108307785	140942836	4	32945											
KCNA3	3738	broad.mit.edu	37	chr1	111215835	111215835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggttcatacccccctcttCgatcaccatatactccgact	4	16	3	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr1:111215835C>T	uc001dzv.1	-	1	1821	c.1597G>A	c.(1597-1599)GAA>AAA	p.E533K		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	533						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCCCCTCTTCGATCACCATA	0.527													T	111215835	C	T	111215835	3	4	29	1	0	0	0	0	1	0	0	0	8004	893	31	1	134	1	KCNA3	1	111215835	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	2908050	111215835	138034786	5	32946											
LINGO4	339398	broad.mit.edu	37	chr1	151774430	151774430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctgctgagattgagccCaaccaggctcccagggtcca	12	14	0	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr1:151774430C>T	uc001ezf.1	-	2	941	c.751G>A	c.(751-753)GGG>AGG	p.G251R		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	251	Extracellular (Potential).					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGATTGAGCCCAACCAGGCTC	0.642													T	151774430	C	T	151774430	3	4	29	1	0	0	0	0	1	0	0	0	8817	594	21	4	1034	4	LINGO4	1	151774430	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	40558595	151774430	97476191	6	32947											
TCHH	7062	broad.mit.edu	37	chr1	152080772	152080772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgaggaattttctgtcacGctcttggcggtgcagctgct	12	11	3	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr1:152080772G>A	uc001ezp.2	-	2	4921	c.4921C>T	c.(4921-4923)CGT>TGT	p.R1641C	TCHH_uc009wne.1_Missense_Mutation_p.R1641C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1641	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCTGTCACGCTCTTGGCGG	0.592													A	152080772	G	A	152080772	3	1	29	1	0	0	0	0	1	0	0	0	15697	1087	38	1	914	1	TCHH	1	152080772	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	306342	152080772	97169849	7	32948											
HRNR	388697	broad.mit.edu	37	chr1	152185612	152185612	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagggtgaagtgctactaggAaaactgagaaaatatgagcc	12	5	0	3			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr1:152185612A>G	uc001ezt.1	-	3	8569	c.8493T>C	c.(8491-8493)TTT>TTC	p.F2831F		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2831					keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTACTAGGAAAACTGAGAA	0.388													G	152185612	A	G	152185612	2	3	29	1	0	0	0	0	0	0	0	1	7359	243	9	3		3	HRNR	1	152185612	Silent	SNP	A	TCGA-BR-6454-01A-11D-1800-08	104840	152185612	97065009	8	32949											
HRNR	388697	broad.mit.edu	37	chr1	152193511	152193511	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tagttgggagactgccctgaCccagacccacattggccgcg	12	14	0	3			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr1:152193511C>G	uc001ezt.1	-	3	670	c.594G>C	c.(592-594)GGG>GGC	p.G198G		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	198	2.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGCCCTGACCCAGACCCAC	0.557													G	152193511	C	G	152193511	2	3	29	1	0	0	0	0	0	0	0	1	7359	494	18	5		5	HRNR	1	152193511	Silent	SNP	C	TCGA-BR-6454-01A-11D-1800-08	7899	152193511	97057110	9	32950											
NUP210L	91181	broad.mit.edu	37	chr1	154033097	154033097	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actaaaaaataaccagatccTtccacaaggctaaatgtttc	4	10	0	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr1:154033097T>G	uc001fdw.2	-	20	2841	c.2769A>C	c.(2767-2769)GAA>GAC	p.E923D	NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Missense_Mutation_p.E923D	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	923						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AACCAGATCCTTCCACAAGGC	0.383													G	154033097	T	G	154033097	3	3	29	1	0	0	0	0	1	0	0	0	10761	1606	56	5	2981	5	NUP210L	1	154033097	Missense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08	1839586	154033097	95217524	10	32951											
OR10X1	128367	broad.mit.edu	37	chr1	158549454	158549454	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagaaggagagtgcactaAggaagagatacataggggtg	16	4	0	3			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr1:158549454A>C	uc010pin.1	-	1	236	c.236T>G	c.(235-237)CTT>CGT	p.L79R		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	79	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					GAGTGCACTAAGGAAGAGATA	0.498													C	158549454	A	C	158549454	3	2	29	1	0	0	0	0	1	0	0	0	10922	72	3	5	739	5	OR10X1	1	158549454	Missense_Mutation	SNP	A	TCGA-BR-6454-01A-11D-1800-08	4516357	158549454	90701167	11	32952											
ILDR2	387597	broad.mit.edu	37	chr1	166927077	166927077	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgagccctgttttgaagctActactcgaacagtcctcctg	8	13	0	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr1:166927077A>G	uc001gdx.1	-	2	364	c.308T>C	c.(307-309)GTA>GCA	p.V103A		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	103	Ig-like V-type.|Extracellular (Potential).					integral to membrane				ovary(1)	1						TTTTGAAGCTACTACTCGAAC	0.498													G	166927077	A	G	166927077	3	3	29	1	0	0	0	0	1	0	0	0	7710	391	14	3	1647	3	ILDR2	1	166927077	Missense_Mutation	SNP	A	TCGA-BR-6454-01A-11D-1800-08	8377623	166927077	82323544	12	32953											
SELP	6403	broad.mit.edu	37	chr1	169572294	169572294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggggagtctgtccagcGtcccgatcgagtacaatcca	13	11	1	0	rs144811959	byFrequency	TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr1:169572294G>A	uc001ggi.3	-	10	1740	c.1675C>T	c.(1675-1677)CGC>TGC	p.R559C	SELP_uc001ggh.2_Missense_Mutation_p.R394C|SELP_uc009wvr.2_Missense_Mutation_p.R559C	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	559	Extracellular (Potential).|Sushi 6.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TCTGTCCAGCGTCCCGATCGA	0.448													A	169572294	G	A	169572294	3	1	29	1	0	0	0	0	1	0	0	0	14019	1145	40	1	845	1	SELP	1	169572294	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	2645217	169572294	79678327	13	32954											
RASAL2	9462	broad.mit.edu	37	chr1	178414760	178414760	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaatccattgaggaatacctCaagttggtgggacaacagta	10	7	1	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr1:178414760C>T	uc001glr.2	+	7	1271	c.1146C>T	c.(1144-1146)CTC>CTT	p.L382L	RASAL2_uc001glq.2_Silent_p.L530L	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	382	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						AGGAATACCTCAAGTTGGTGG	0.403													T	178414760	C	T	178414760	2	4	29	1	0	0	0	0	0	0	0	1	13064	813	29	4		4	RASAL2	1	178414760	Silent	SNP	C	TCGA-BR-6454-01A-11D-1800-08	8842466	178414760	70835861	14	32955											
F13B	2165	broad.mit.edu	37	chr1	197026201	197026201	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caagttatctcattcgatccAtggagaaggtagccgctttt	9	9	1	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr1:197026201A>T	uc001gtt.1	-	7	1157	c.1113T>A	c.(1111-1113)CAT>CAA	p.H371Q		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	371	Sushi 6.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						CATTCGATCCATGGAGAAGGT	0.388													T	197026201	A	T	197026201	3	4	29	1	0	0	0	0	1	0	0	0	5341	214	8	5	896	5	F13B	1	197026201	Missense_Mutation	SNP	A	TCGA-BR-6454-01A-11D-1800-08	18611441	197026201	52224420	15	32956											
MDM4	4194	broad.mit.edu	37	chr1	204511962	204511962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaaacatctaggctggacCttggatttgaggagtgggat	14	5	1	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr1:204511962C>T	uc001hba.2	+	8	724	c.562C>T	c.(562-564)CTT>TTT	p.L188F	MDM4_uc001hbd.1_RNA|MDM4_uc010pqw.1_RNA|MDM4_uc010pqx.1_Missense_Mutation_p.L61F|MDM4_uc001hay.1_Missense_Mutation_p.L188F|MDM4_uc001hbb.2_Missense_Mutation_p.L61F|MDM4_uc010pqy.1_Intron|MDM4_uc001hbc.2_RNA|MDM4_uc009xbe.1_RNA	NM_002393	NP_002384	O15151	MDM4_HUMAN	mouse double minute 4 homolog	188					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TAGGCTGGACCTTGGATTTGA	0.378			A		GBM|bladder|retinoblastoma								T	204511962	C	T	204511962	3	4	29	1	0	0	0	0	1	0	0	0	9414	681	24	4	588	4	MDM4	1	204511962	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	7485761	204511962	44738659	16	32957											
IL20	50604	broad.mit.edu	37	chr1	207039928	207039928	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accattatactctccggaagAtcagcagcctcgccaattcc	6	15	2	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr1:207039928A>T	uc001her.2	+	3	369	c.325A>T	c.(325-327)ATC>TTC	p.I109F	IL20_uc010pry.1_Missense_Mutation_p.I180F|IL20_uc009xby.2_Missense_Mutation_p.I109F	NM_018724	NP_061194	Q9NYY1	IL20_HUMAN	interleukin 20 precursor	109					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding				0	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		TCTCCGGAAGATCAGCAGCCT	0.517													T	207039928	A	T	207039928	3	4	29	1	0	0	0	0	1	0	0	0	7667	333	12	5	335	5	IL20	1	207039928	Missense_Mutation	SNP	A	TCGA-BR-6454-01A-11D-1800-08	2527966	207039928	42210693	17	32958											
GDF7	151449	broad.mit.edu	37	chr2	20870362	20870362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggcagctggacttctcCgccgttgctgctgctgtcca	11	16	1	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr2:20870362C>T	uc002rdz.1	+	2	1106	c.530C>T	c.(529-531)CCG>CTG	p.P177L		NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7 preproprotein	177					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGACTTCTCCGCCGTTGCTG	0.716													T	20870362	C	T	20870362	3	4	29	1	0	0	0	0	1	0	0	0	6318	652	23	1	536	1	GDF7	2	20870362	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08		20870362	222329011	18	32959											
GPN1	11321	broad.mit.edu	37	chr2	27861084	27861084	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtttggttttcagcatcttaTacaaaaccaagctgcctttc	6	10	2	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr2:27861084T>A	uc010ymc.1	+	8	595	c.574T>A	c.(574-576)TAC>AAC	p.Y192N	GPN1_uc010ezf.2_Missense_Mutation_p.Y166N|GPN1_uc010yma.1_Missense_Mutation_p.Y99N|GPN1_uc010ymb.1_Missense_Mutation_p.Y83N|GPN1_uc010ymd.1_Missense_Mutation_p.Y73N|GPN1_uc010yme.1_Missense_Mutation_p.Y192N|GPN1_uc010ezg.1_Missense_Mutation_p.Y73N	NM_007266	NP_009197	Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1 isoform a	178						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding				0						CAGCATCTTATACAAAACCAA	0.373													A	27861084	T	A	27861084	3	1	29	1	0	0	0	0	1	0	0	0	6617	1406	49	5	687	5	GPN1	2	27861084	Missense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08	6990722	27861084	215338289	19	32960											
NRXN1	9378	broad.mit.edu	37	chr2	50724814	50724814	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgccagtctctatgtTatggaactccagcctagtat	9	9	1	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr2:50724814T>A	uc010fbq.2	-	14	4133	c.2656A>T	c.(2656-2658)AAC>TAC	p.N886Y	NRXN1_uc002rxb.3_Missense_Mutation_p.N518Y|NRXN1_uc002rxe.3_Missense_Mutation_p.N846Y|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	212	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTCTCTATGTTATGGAACTCC	0.403													A	50724814	T	A	50724814	3	1	29	1	0	0	0	0	1	0	0	0	10665	1754	61	5	2290	5	NRXN1	2	50724814	Missense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08	22863730	50724814	192474559	20	32961											
CCDC85A	114800	broad.mit.edu	37	chr2	56420020	56420020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaccaccacaagcaccacGcgagcagtggcagcccggag	13	16	0	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr2:56420020G>A	uc002rzn.2	+	2	1187	c.685G>A	c.(685-687)GCG>ACG	p.A229T		NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	229	His-rich.									breast(3)|ovary(2)	5			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAAGCACCACGCGAGCAGTGG	0.682													A	56420020	G	A	56420020	3	1	29	1	0	0	0	0	1	0	0	0	2859	1087	38	1	691	1	CCDC85A	2	56420020	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	5695206	56420020	186779353	21	32962											
ANXA4	307	broad.mit.edu	37	chr2	70033572	70033572	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caacttcgagcaggtgattgTggggatgatgacgcccacgg	15	9	0	3			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr2:70033572T>A	uc002sfr.3	+	5	475	c.248T>A	c.(247-249)GTG>GAG	p.V83E	ANXA4_uc010yqn.1_Intron|ANXA4_uc002sfs.3_Intron|ANXA4_uc010yqo.1_5'UTR	NM_001153	NP_001144	P09525	ANXA4_HUMAN	annexin IV	81	Annexin 1.				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity				0						CAGGTGATTGTGGGGATGATG	0.512													A	70033572	T	A	70033572	3	1	29	1	0	0	0	0	1	0	0	0	720	1696	59	5	262	5	ANXA4	2	70033572	Missense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08	13613552	70033572	173165801	22	32963											
KDM3A	55818	broad.mit.edu	37	chr2	86716717	86716717	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttattgaaggaaaagagaagCcaggagcactgtggcacata	12	6	0	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr2:86716717C>G	uc002sri.3	+	23	3835	c.3508C>G	c.(3508-3510)CCA>GCA	p.P1170A	KDM3A_uc010ytj.1_Missense_Mutation_p.P1170A|KDM3A_uc010ytk.1_Missense_Mutation_p.P1118A	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	1170	JmjC.				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						AAAAGAGAAGCCAGGAGCACT	0.418													G	86716717	C	G	86716717	3	3	29	1	0	0	0	0	1	0	0	0	8126	739	26	5	3594	5	KDM3A	2	86716717	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	16683145	86716717	156482656	23	32964											
MARCO	8685	broad.mit.edu	37	chr2	119751970	119751970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctctatcaaggcactggGcagatctggctggataatgt	11	9	4	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr2:119751970G>A	uc002tln.1	+	17	1569	c.1437G>A	c.(1435-1437)GGG>GGA	p.G479G	MARCO_uc010yyf.1_Silent_p.G401G	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	479	SRCR.|Extracellular (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|skin(2)|central_nervous_system(1)	6						AAGGCACTGGGCAGATCTGGC	0.547													A	119751970	G	A	119751970	2	1	29	1	0	0	0	0	0	0	0	1	9311	1190	42	2		2	MARCO	2	119751970	Silent	SNP	G	TCGA-BR-6454-01A-11D-1800-08	33035253	119751970	123447403	24	32965											
GLI2	2736	broad.mit.edu	37	chr2	121746631	121746631	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcaggagtggacggcgcGgggcccgaggccgacctggg	22	12	0	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr2:121746631G>A	uc010flp.2	+	13	3171	c.3141G>A	c.(3139-3141)GCG>GCA	p.A1047A	GLI2_uc002tmq.1_Silent_p.A719A|GLI2_uc002tmr.1_Silent_p.A702A|GLI2_uc002tmt.3_Silent_p.A719A|GLI2_uc002tmu.3_Silent_p.A702A	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1047					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				TGGACGGCGCGGGGCCCGAGG	0.736													A	121746631	G	A	121746631	2	1	29	1	0	0	0	0	0	0	0	1	6438	1103	39	1		1	GLI2	2	121746631	Silent	SNP	G	TCGA-BR-6454-01A-11D-1800-08	1994661	121746631	121452742	25	32966											
XIRP2	129446	broad.mit.edu	37	chr2	168103997	168103997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaaagattgtcatagatcGtgaacaaaacaatgatgctc	8	6	1	4	rs111389244		TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr2:168103997G>A	uc002udx.2	+	8	6113	c.6095G>A	c.(6094-6096)CGT>CAT	p.R2032H	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R1857H|XIRP2_uc010fpq.2_Missense_Mutation_p.R1810H|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1857					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GTCATAGATCGTGAACAAAAC	0.393													A	168103997	G	A	168103997	3	1	29	1	0	0	0	0	1	0	0	0	17427	1145	40	1	6125	1	XIRP2	2	168103997	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	46357366	168103997	75095376	26	32967											
HECW2	57520	broad.mit.edu	37	chr2	197183523	197183523	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgcacacggattcctgCgacccttcggcagggccact	12	15	0	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr2:197183523C>T	uc002utm.1	-	9	2274	c.2091G>A	c.(2089-2091)TCG>TCA	p.S697S	HECW2_uc002utl.1_Silent_p.S341S	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	697					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						CGGATTCCTGCGACCCTTCGG	0.612													T	197183523	C	T	197183523	2	4	29	1	0	0	0	0	0	0	0	1	7043	755	27	1		1	HECW2	2	197183523	Silent	SNP	C	TCGA-BR-6454-01A-11D-1800-08	29079526	197183523	46015850	27	32968											
PARD3B	117583	broad.mit.edu	37	chr2	205989155	205989155	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaagggagcagcaataaaaGatggccgcctacaatcaggg	12	9	1	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr2:205989155G>T	uc002var.1	+	9	1477	c.1270G>T	c.(1270-1272)GAT>TAT	p.D424Y	PARD3B_uc010fub.1_Missense_Mutation_p.D424Y|PARD3B_uc002vao.1_Missense_Mutation_p.D424Y|PARD3B_uc002vap.1_Missense_Mutation_p.D424Y|PARD3B_uc002vaq.1_Missense_Mutation_p.D424Y	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	424	PDZ 2.				cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AGCAATAAAAGATGGCCGCCT	0.373													T	205989155	G	T	205989155	3	4	29	1	0	0	0	0	1	0	0	0	11444	942	33	5	1304	5	PARD3B	2	205989155	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	8805632	205989155	37210218	28	32969											
NMUR1	10316	broad.mit.edu	37	chr2	232392858	232392858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcttggtcacttgtctccGgccccgatcgtgctgctgga	11	14	3	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr2:232392858G>A	uc002vry.3	-	2	984	c.874C>T	c.(874-876)CGG>TGG	p.R292W		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	292	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			lung(3)|central_nervous_system(1)|pancreas(1)	5		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		ACTTGTCTCCGGCCCCGATCG	0.647													A	232392858	G	A	232392858	3	1	29	1	0	0	0	0	1	0	0	0	10506	1115	39	1	414	1	NMUR1	2	232392858	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	26403703	232392858	10806515	29	32970											
MST1R	4486	broad.mit.edu	37	chr3	49928023	49928023	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgaacactatagtactccctGtccaggatgtcgcgggccaa	10	12	0	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr3:49928023G>C	uc003cxy.3	-	18	3969	c.3705C>G	c.(3703-3705)GAC>GAG	p.D1235E	MST1R_uc011bdc.1_Missense_Mutation_p.D114E	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	1235	Cytoplasmic (Potential).|Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AGTACTCCCTGTCCAGGATGT	0.547													C	49928023	G	C	49928023	3	2	29	1	0	0	0	0	1	0	0	0	9891	1368	48	5	509	5	MST1R	3	49928023	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08		49928023	148094407	30	32971											
PARP14	54625	broad.mit.edu	37	chr3	122414498	122414498	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagctctgattgaattttTtgacagaaaaggtaatattt	7	4	2	4			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr3:122414498T>C	uc003efq.3	+	5	883	c.824T>C	c.(823-825)TTT>TCT	p.F275S	PARP14_uc010hrk.2_RNA	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		ATTGAATTTTTTGACAGAAAA	0.214													C	122414498	T	C	122414498	3	2	29	1	0	0	0	0	1	0	0	0	11458	1841	64	3	842	3	PARP14	3	122414498	Missense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08	72486475	122414498	75607932	31	32972											
ITGB5	3693	broad.mit.edu	37	chr3	124515266	124515266	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcccttgttcctggcacaGgagaagttgtcgcactcaca	9	13	1	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr3:124515266G>A	uc003eho.2	-	10	1959	c.1662C>T	c.(1660-1662)TCC>TCT	p.S554S	ITGB5_uc010hrx.2_RNA	NM_002213	NP_002204	P18084	ITB5_HUMAN	integrin, beta 5 precursor	554	Extracellular (Potential).|II.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			skin(2)	2				GBM - Glioblastoma multiforme(114;0.163)		TCCTGGCACAGGAGAAGTTGT	0.577													A	124515266	G	A	124515266	2	1	29	1	0	0	0	0	0	0	0	1	7898	987	35	4		4	ITGB5	3	124515266	Silent	SNP	G	TCGA-BR-6454-01A-11D-1800-08	2100768	124515266	73507164	32	32973											
CLSTN2	64084	broad.mit.edu	37	chr3	140122503	140122503	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgttcaagatccatggccagGagctgccctttgaggctgtg	13	11	1	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr3:140122503G>T	uc003etn.2	+	3	455	c.265G>T	c.(265-267)GAG>TAG	p.E89*	CLSTN2_uc003etm.2_Nonsense_Mutation_p.E89*	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	89	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						CCATGGCCAGGAGCTGCCCTT	0.527										HNSCC(16;0.037)			T	140122503	G	T	140122503	4	4	29	1	0	0	0	0	0	1	0	0	3562	1175	41	5	275	5	CLSTN2	3	140122503	Nonsense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	15607237	140122503	57899927	33	32974											
MME	4311	broad.mit.edu	37	chr3	154856014	154856014	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagttatggaattggaaaaaGaaattgccaatgtaaaacac	8	4	0	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr3:154856014G>A	uc010hvr.1	+	9	1055	c.844G>A	c.(844-846)GAA>AAA	p.E282K	MME_uc003fab.1_Missense_Mutation_p.E282K|MME_uc003fac.1_Missense_Mutation_p.E282K|MME_uc003fad.1_Missense_Mutation_p.E282K|MME_uc003fae.1_Missense_Mutation_p.E282K	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	282	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ATTGGAAAAAGAAATTGCCAA	0.338													A	154856014	G	A	154856014	3	1	29	1	0	0	0	0	1	0	0	0	9645	943	33	4	874	4	MME	3	154856014	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	14733511	154856014	43166416	34	32975											
PIK3CA	5290	broad.mit.edu	37	chr3	178952007	178952007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttttgatgacattgcatAcattcgaaagaccctagcct	6	10	1	3	rs121913288		TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr3:178952007A>G	uc003fjk.2	+	21	3219	c.3062A>G	c.(3061-3063)TAC>TGC	p.Y1021C		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1021	PI3K/PI4K.		Y -> C (in cancer).|Y -> H (in cancer).|Y -> N (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Y1021C(17)|p.Y1021H(2)|p.Y1021N(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GACATTGCATACATTCGAAAG	0.388		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952007	A	G	178952007	3	3	29	1	0	0	0	0	1	0	0	0	11913	391	14	3	3140	3	PIK3CA	3	178952007	Missense_Mutation	SNP	A	TCGA-BR-6454-01A-11D-1800-08	24095993	178952007	19070423	35	32976											
C4orf37	285555	broad.mit.edu	37	chr4	98633959	98633959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaaaacaggattgtatgctGcaggacctgagagacaacaa	10	7	0	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr4:98633959G>A	uc003htt.1	-	10	1301	c.1211C>T	c.(1210-1212)GCA>GTA	p.A404V		NM_174952	NP_777612	Q8N412	CD037_HUMAN	hypothetical protein LOC285555	404											0				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		ATTGTATGCTGCAGGACCTGA	0.343													A	98633959	G	A	98633959	3	1	29	1	0	0	0	0	1	0	0	0	2267	1319	46	2	176	2	C4orf37	4	98633959	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08		98633959	92520317	36	32977											
FAT4	79633	broad.mit.edu	37	chr4	126370611	126370611	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagatattctataatggatGcaagtcttccatttacaatt	6	6	2	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr4:126370611G>T	uc003ifj.3	+	9	8440	c.8440G>T	c.(8440-8442)GCA>TCA	p.A2814S	FAT4_uc011cgp.1_Missense_Mutation_p.A1112S|FAT4_uc003ifi.1_Missense_Mutation_p.A292S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2814	Cadherin 27.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TATAATGGATGCAAGTCTTCC	0.398													T	126370611	G	T	126370611	3	4	29	1	0	0	0	0	1	0	0	0	5692	1319	46	5	8474	5	FAT4	4	126370611	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	27736652	126370611	64783665	37	32978											
ODZ3	55714	broad.mit.edu	37	chr4	183713739	183713739	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagtcagttttacctatgatGaaacagcaggagtcctaaag	10	7	1	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr4:183713739G>T	uc003ivd.1	+	25	5951	c.5914G>T	c.(5914-5916)GAA>TAA	p.E1972*		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1972	Extracellular (Potential).|YD 11.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TACCTATGATGAAACAGCAGG	0.403													T	183713739	G	T	183713739	4	4	29	1	0	0	0	0	0	1	0	0	10836	1291	45	5	6012	5	ODZ3	4	183713739	Nonsense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	57343128	183713739	7440537	38	32979											
SLC6A3	6531	broad.mit.edu	37	chr5	1409887	1409887	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgccaggacgatgaagagCgtgaagagctcacggtgtct	15	9	2	4			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr5:1409887C>T	uc003jck.2	-	10	1468	c.1347G>A	c.(1345-1347)ACG>ACA	p.T449T		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	449	Helical; Name=9; (Potential).				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CGATGAAGAGCGTGAAGAGCT	0.582													T	1409887	C	T	1409887	2	4	29	1	0	0	0	0	0	0	0	1	14685	755	27	1		1	SLC6A3	5	1409887	Silent	SNP	C	TCGA-BR-6454-01A-11D-1800-08		1409887	179505373	39	32980											
ADCY2	108	broad.mit.edu	37	chr5	7396565	7396565	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctcatcgtcttcctgctgctCatcgtcatgggctcctgcct	8	16	4	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr5:7396565C>G	uc003jdz.1	+	1	223	c.156C>G	c.(154-156)CTC>CTG	p.L52L		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	52	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						TCCTGCTGCTCATCGTCATGG	0.716													G	7396565	C	G	7396565	2	3	29	1	0	0	0	0	0	0	0	1	294	813	29	5		5	ADCY2	5	7396565	Silent	SNP	C	TCGA-BR-6454-01A-11D-1800-08	5986678	7396565	173518695	40	32981											
C5orf49	134121	broad.mit.edu	37	chr5	7832018	7832018	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggctggggatgtcgttcTtcctgtagaagtcagcctgc	14	9	2	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr5:7832018T>G	uc003jea.3	-	3	519	c.389A>C	c.(388-390)AAG>ACG	p.K130T		NM_001089584	NP_001083053	A4QMS7	CE049_HUMAN	hypothetical protein LOC134121	130											0						GATGTCGTTCTTCCTGTAGAA	0.582													G	7832018	T	G	7832018	3	3	29	1	0	0	0	0	1	0	0	0	2307	1609	56	5	58	5	C5orf49	5	7832018	Missense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08	435453	7832018	173083242	41	32982											
DNAH5	1767	broad.mit.edu	37	chr5	13922344	13922344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccagccatggctcgtggCtctgagagcaggaatgaaga	14	11	1	3			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr5:13922344C>T	uc003jfd.2	-	5	574	c.532G>A	c.(532-534)GCC>ACC	p.A178T	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	178	Stem (By similarity).				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)					TGGCTCGTGGCTCTGAGAGCA	0.552									Kartagener_syndrome				T	13922344	C	T	13922344	3	4	29	1	0	0	0	0	1	0	0	0	4604	797	28	2	13642	2	DNAH5	5	13922344	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	6090326	13922344	166992916	42	32983											
MARCH11	441061	broad.mit.edu	37	chr5	16067798	16067798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctccccggctgctttcttCgatgtctgtggctttgtcat	9	13	4	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr5:16067798C>T	uc003jfo.2	-	4	1204	c.991G>A	c.(991-993)GAA>AAA	p.E331K	MARCH11_uc010itw.1_Missense_Mutation_p.E87K	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	331						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding				0						CTGCTTTCTTCGATGTCTGTG	0.478													T	16067798	C	T	16067798	3	4	29	1	0	0	0	0	1	0	0	0	9300	893	31	1	221	1	MARCH11	5	16067798	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	2145454	16067798	164847462	43	32984											
PDZD2	23037	broad.mit.edu	37	chr5	32089722	32089722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagacagagtgagccgcgCctggccagccatgtggcagc	14	13	0	3			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr5:32089722C>T	uc003jhl.2	+	20	6556	c.6168C>T	c.(6166-6168)CGC>CGT	p.R2056R	PDZD2_uc003jhm.2_Silent_p.R2056R	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	2056					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GTGAGCCGCGCCTGGCCAGCC	0.647													T	32089722	C	T	32089722	2	4	29	1	0	0	0	0	0	0	0	1	11701	726	26	2		2	PDZD2	5	32089722	Silent	SNP	C	TCGA-BR-6454-01A-11D-1800-08	16021924	32089722	148825538	44	32985											
KCNN2	3781	broad.mit.edu	37	chr5	113822774	113822775	+	Frame_Shift_Del	DEL	AG	AG	-													atgcagctgccaatgtactcAgggaaacatggctaatttac							TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr5:113822773_113822774CAG>C	uc003kqo.3	+	5	1738_1739	c.1281_1282CAG>C	c.(1279-1284)ctcaggfs	p.L427fs	KCNN2_uc003kqp.3_Frame_Shift_Del_p.L79fs|KCNN2_uc010jcg.3_Non-coding_Transcript|AK097686_uc003kqr.1_Intron	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.	427	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.L427F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CCAATGTACTCAGGGAAACATG	0.356													-	113822775	AG	-	113822774	7	5	29	1	0	1	0	1	0	0	0	0	8079	179	7	0	1304	0	KCNN2	5	113822774	Frame_Shift_Del	DEL	AG	TCGA-BR-6454-01A-11D-1800-08	81733052	113822774	67092486	45	32986											
ARAP3	64411	broad.mit.edu	37	chr5	141033762	141033762	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggggggcctggagggggctCaggtggcctctcctcctggc	19	12	2	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr5:141033762C>A	uc003llm.2	-	33	4468	c.4390G>T	c.(4390-4392)GAG>TAG	p.E1464*	ARAP3_uc003lll.2_Nonsense_Mutation_p.E415*|ARAP3_uc011dbe.1_Nonsense_Mutation_p.E1113*|ARAP3_uc003lln.2_Nonsense_Mutation_p.E1295*	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1464	Pro-rich.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7						GGAGGGGGCTCAGGTGGCCTC	0.612													A	141033762	C	A	141033762	4	1	29	1	0	0	0	0	0	1	0	0	840	835	29	5	248	5	ARAP3	5	141033762	Nonsense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	27210988	141033762	39881498	46	32987											
ERVFRDE1	405754	broad.mit.edu	37	chr6	11105535	11105535	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatgagaaccagcaggagCaggcccatggtgacctaaga	13	9	0	4			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr6:11105535C>T	uc003mzt.2	-	2	379	c.9G>A	c.(7-9)CTG>CTA	p.L3L	LOC221710_uc003mzr.2_Intron|LOC221710_uc011dio.1_Intron	NM_207582	NP_997465	P60508	EFRD1_HUMAN	syncytin 2	3						integral to membrane|plasma membrane|virion					0						CCAGCAGGAGCAGGCCCATGG	0.478													T	11105535	C	T	11105535	2	4	29	1	0	0	0	0	0	0	0	1	5246	697	25	2		2	ERVFRDE1	6	11105535	Silent	SNP	C	TCGA-BR-6454-01A-11D-1800-08		11105535	160009532	47	32988											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056139	26056139	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caaccttggccttctttgggCtcttagccactttcttggtt	8	12	3	0	rs145521943		TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr6:26056139C>G	uc003nfw.2	-	1	561	c.518G>C	c.(517-519)AGC>ACC	p.S173T		NM_005319	NP_005310	P16403	H12_HUMAN	histone cluster 1, H1c	173					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)|skin(2)	5						CTTCTTTGGGCTCTTAGCCAC	0.562													G	26056139	C	G	26056139	3	3	29	1	0	0	0	0	1	0	0	0	7124	797	28	5	127	5	HIST1H1C	6	26056139	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	14950604	26056139	145058928	48	32989											
HIST1H4E	8367	broad.mit.edu	37	chr6	26204985	26204985	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caagcctgccatccggcgccTtgctcgtcgcgggggtgtca	14	15	1	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr6:26204985T>A	uc003ngy.2	+	1	113	c.113T>A	c.(112-114)CTT>CAT	p.L38H		NM_003545	NP_003536	P62805	H4_HUMAN	histone cluster 1, H4e	38					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1		all_hematologic(11;0.196)				ATCCGGCGCCTTGCTCGTCGC	0.572													A	26204985	T	A	26204985	3	1	29	1	0	0	0	0	1	0	0	0	7169	1609	56	5	115	5	HIST1H4E	6	26204985	Missense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08	148846	26204985	144910082	49	32990											
C6orf125	84300	broad.mit.edu	37	chr6	33679443	33679443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacagagcttaagaaaacgCcggtaccggctggccgccat	11	13	1	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr6:33679443C>T	uc003ofa.1	-	1	62	c.21G>A	c.(19-21)CGG>CGA	p.R7R	C6orf125_uc010jve.1_RNA	NM_032340	NP_115716	Q9BRT2	CF125_HUMAN	hypothetical protein LOC84300	7											0						TAAGAAAACGCCGGTACCGGC	0.667													T	33679443	C	T	33679443	2	4	29	1	0	0	0	0	0	0	0	1	2325	726	26	2		2	C6orf125	6	33679443	Silent	SNP	C	TCGA-BR-6454-01A-11D-1800-08	7474458	33679443	137435624	50	32991											
RIPPLY2	134701	broad.mit.edu	37	chr6	84563444	84563444	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggagaccctgggtggaCgccggaggcaagaaagaaga	16	8	1	4			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr6:84563444C>T	uc003pke.2	+	2	277	c.126C>T	c.(124-126)GAC>GAT	p.D42D		NM_001009994	NP_001009994	Q5TAB7	RIPP2_HUMAN	ripply2 protein	42					somite rostral/caudal axis specification	nucleus					0						CCTGGGTGGACGCCGGAGGCA	0.667													T	84563444	C	T	84563444	2	4	29	1	0	0	0	0	0	0	0	1	13385	535	19	1		1	RIPPLY2	6	84563444	Silent	SNP	C	TCGA-BR-6454-01A-11D-1800-08	50884001	84563444	86551623	51	32992											
NCOA7	135112	broad.mit.edu	37	chr6	126248844	126248844	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcaactcatcctttcaagttCagtgaccactattatggcac	6	12	3	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr6:126248844C>G	uc010kes.2	+	16	3008	c.2559C>G	c.(2557-2559)TTC>TTG	p.F853L	NCOA7_uc003qae.3_Missense_Mutation_p.F853L|NCOA7_uc003qah.2_Missense_Mutation_p.F842L|NCOA7_uc003qai.2_Missense_Mutation_p.F853L|NCOA7_uc010ket.2_Missense_Mutation_p.F738L|NCOA7_uc003qak.2_Missense_Mutation_p.F130L	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	853	TLD.				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CTTTCAAGTTCAGTGACCACT	0.393													G	126248844	C	G	126248844	3	3	29	1	0	0	0	0	1	0	0	0	10234	825	29	5	2609	5	NCOA7	6	126248844	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	41685400	126248844	44866223	52	32993											
RSPO3	84870	broad.mit.edu	37	chr6	127471646	127471646	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagtggattttacttacaccTtggaaagtgccttgacaatt	8	7	0	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr6:127471646T>A	uc003qar.2	+	3	655	c.365T>A	c.(364-366)CTT>CAT	p.L122H	RSPO3_uc003qas.1_Missense_Mutation_p.L122H	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	R-spondin 3 precursor	122	FU 2.					extracellular region	heparin binding				0				GBM - Glioblastoma multiforme(226;0.0555)		TACTTACACCTTGGAAAGTGC	0.363													A	127471646	T	A	127471646	3	1	29	1	0	0	0	0	1	0	0	0	13711	1609	56	5	375	5	RSPO3	6	127471646	Missense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08	1222802	127471646	43643421	53	32994											
SLC22A1	6580	broad.mit.edu	37	chr6	160560841	160560841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggccgcatctaccccatGgccatgtcaaatttgttggc	11	12	2	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr6:160560841G>A	uc003qtc.2	+	7	1323	c.1218G>A	c.(1216-1218)ATG>ATA	p.M406I	SLC22A1_uc003qtd.2_Missense_Mutation_p.M406I	NM_003057	NP_003048	O15245	S22A1_HUMAN	solute carrier family 22 member 1 isoform a	406	Helical; (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding				0		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TCTACCCCATGGCCATGTCAA	0.527													A	160560841	G	A	160560841	3	1	29	1	0	0	0	0	1	0	0	0	14440	1348	47	4	1244	4	SLC22A1	6	160560841	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	33089195	160560841	10554226	54	32995											
MAGI2	9863	broad.mit.edu	37	chr7	77885499	77885499	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacaatggttaaggtcataAgttcagcttgggtggcccca	11	9	3	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr7:77885499A>C	uc003ugx.2	-	10	2062	c.1808T>G	c.(1807-1809)CTT>CGT	p.L603R	MAGI2_uc003ugy.2_Missense_Mutation_p.L603R|MAGI2_uc010ldx.1_Missense_Mutation_p.L212R|MAGI2_uc010ldy.1_Missense_Mutation_p.L212R|MAGI2_uc011kgr.1_Missense_Mutation_p.L435R|MAGI2_uc011kgs.1_Missense_Mutation_p.L440R	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	603						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TAAGGTCATAAGTTCAGCTTG	0.522													C	77885499	A	C	77885499	3	2	29	1	0	0	0	0	1	0	0	0	9191	72	3	5	2611	5	MAGI2	7	77885499	Missense_Mutation	SNP	A	TCGA-BR-6454-01A-11D-1800-08		77885499	81253164	55	32996											
ZNF804B	219578	broad.mit.edu	37	chr7	88963320	88963320	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attttactcctaccagcagaGaaaaagaaactagaaataca	5	8	0	3			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr7:88963320G>T	uc011khi.1	+	4	1562	c.1024G>T	c.(1024-1026)GAA>TAA	p.E342*		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	342						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TACCAGCAGAGAAAAAGAAAC	0.353										HNSCC(36;0.09)			T	88963320	G	T	88963320	4	4	29	1	0	0	0	0	0	1	0	0	18168	943	33	5	1038	5	ZNF804B	7	88963320	Nonsense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	11077821	88963320	70175343	56	32997											
AKAP9	10142	broad.mit.edu	37	chr7	91632525	91632525	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgataaacttcagaaagaActcaatgtacttaaatcaga	5	6	3	4			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr7:91632525A>C	uc003ulg.2	+	8	3519	c.3294A>C	c.(3292-3294)GAA>GAC	p.E1098D	AKAP9_uc003ule.2_Missense_Mutation_p.E1110D|AKAP9_uc003ulf.2_Missense_Mutation_p.E1098D|AKAP9_uc003uli.2_Missense_Mutation_p.E723D	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1110	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTCAGAAAGAACTCAATGTAC	0.328			T	BRAF	papillary thyroid								C	91632525	A	C	91632525	3	2	29	1	0	0	0	0	1	0	0	0	459	40	2	5	3324	5	AKAP9	7	91632525	Missense_Mutation	SNP	A	TCGA-BR-6454-01A-11D-1800-08	2669205	91632525	67506138	57	32998											
TRRAP	8295	broad.mit.edu	37	chr7	98503872	98503872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatatactgccagagagaCtctaaggtatgagattaaac	10	6	1	3			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr7:98503872C>T	uc003upp.2	+	13	1318	c.1109C>T	c.(1108-1110)ACT>ATT	p.T370I	TRRAP_uc011kis.1_Missense_Mutation_p.T370I|TRRAP_uc003upr.2_Missense_Mutation_p.T62I	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	370					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCCAGAGAGACTCTAAGGTAT	0.413													T	98503872	C	T	98503872	3	4	29	1	0	0	0	0	1	0	0	0	16598	565	20	4	1155	4	TRRAP	7	98503872	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	6871347	98503872	60634791	58	32999											
TRRAP	8295	broad.mit.edu	37	chr7	98581821	98581821	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatcatccagtatggaaaaaTcgcccggaaacaaggactgg	11	9	1	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr7:98581821T>A	uc003upp.2	+	60	9349	c.9140T>A	c.(9139-9141)ATC>AAC	p.I3047N	TRRAP_uc011kis.1_Missense_Mutation_p.I3018N|TRRAP_uc003upr.2_Missense_Mutation_p.I2735N	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3047	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TATGGAAAAATCGCCCGGAAA	0.438													A	98581821	T	A	98581821	3	1	29	1	0	0	0	0	1	0	0	0	16598	1435	50	5	9283	5	TRRAP	7	98581821	Missense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08	77949	98581821	60556842	59	33000											
ADRA1A	148	broad.mit.edu	37	chr8	26722075	26722075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacccctcctctgggtgaCgatggttgggtagcgcagcg	16	11	1	2	rs140950299		TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr8:26722075C>T	uc003xfh.1	-	1	848	c.412G>A	c.(412-414)GTC>ATC	p.V138I	ADRA1A_uc003xfc.1_Missense_Mutation_p.V138I|ADRA1A_uc010lul.1_Missense_Mutation_p.V138I|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.V138I|ADRA1A_uc010lum.1_Missense_Mutation_p.V138I|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.V138I	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	138	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CTCTGGGTGACGATGGTTGGG	0.632													T	26722075	C	T	26722075	3	4	29	1	0	0	0	0	1	0	0	0	334	536	19	1	1287	1	ADRA1A	8	26722075	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08		26722075	119641947	60	33001											
TEX15	56154	broad.mit.edu	37	chr8	30701489	30701489	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaacagcacatggttttAatgtgtgtttgcaattattc	8	6	1	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr8:30701489A>C	uc003xil.2	-	1	5045	c.5045T>G	c.(5044-5046)TTA>TGA	p.L1682*		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1682										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACATGGTTTTAATGTGTGTTT	0.348													C	30701489	A	C	30701489	4	2	29	1	0	0	0	0	0	1	0	0	15776	372	13	5	3340	5	TEX15	8	30701489	Nonsense_Mutation	SNP	A	TCGA-BR-6454-01A-11D-1800-08	3979414	30701489	115662533	61	33002											
GDAP1	54332	broad.mit.edu	37	chr8	75262744	75262744	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagcccgcccttgagggcGgaaggcaaggccgacgcgga	19	12	0	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr8:75262744G>A	uc003yah.2	+	1	127	c.48G>A	c.(46-48)GCG>GCA	p.A16A	GDAP1_uc011lfj.1_5'UTR|GDAP1_uc003yai.2_Intron	NM_018972	NP_061845	Q8TB36	GDAP1_HUMAN	ganglioside-induced differentiation-associated	16				AE -> GK (in Ref. 1; CAA76892).		cytoplasm					0	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CCTTGAGGGCGGAAGGCAAGG	0.642													A	75262744	G	A	75262744	2	1	29	1	0	0	0	0	0	0	0	1	6307	1103	39	1		1	GDAP1	8	75262744	Silent	SNP	G	TCGA-BR-6454-01A-11D-1800-08	44561255	75262744	71101278	62	33003											
RGS22	26166	broad.mit.edu	37	chr8	101075729	101075729	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctctcccaatgtaccttTtataaatttcttaaatcttt	1	10	4	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr8:101075729T>C	uc003yjb.1	-	8	1462	c.1267A>G	c.(1267-1269)AAA>GAA	p.K423E	RGS22_uc003yja.1_Missense_Mutation_p.K242E|RGS22_uc003yjc.1_Missense_Mutation_p.K411E|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	423					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AATGTACCTTTTATAAATTTC	0.383													C	101075729	T	C	101075729	3	2	29	1	0	0	0	0	1	0	0	0	13305	1850	64	3	2607	3	RGS22	8	101075729	Missense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08	25812985	101075729	45288293	63	33004											
DCAF13	25879	broad.mit.edu	37	chr8	104427550	104427550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagttgagccagcaggccGccgctccgcgagtcacgtga	13	15	1	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr8:104427550G>A	uc003yln.2	+	1	609	c.332G>A	c.(331-333)CGC>CAC	p.R111H	SLC25A32_uc003yll.2_5'Flank|SLC25A32_uc011lhr.1_5'Flank|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	Error:Variant_position_missing_in_Q9NV06_after_alignment					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						CCAGCAGGCCGCCGCTCCGCG	0.637													A	104427550	G	A	104427550	3	1	29	1	0	0	0	0	1	0	0	0	4266	1087	38	1	334	1	DCAF13	8	104427550	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	3351821	104427550	41936472	64	33005											
RIMS2	9699	broad.mit.edu	37	chr8	104709365	104709365	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggtaaagaagatgggAgaagaatcacagcaacagca	13	6	1	4			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr8:104709365A>G	uc003ylp.2	+	2	367	c.228A>G	c.(226-228)GGA>GGG	p.G76G		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	107	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGAAGATGGGAGAAGAATCAC	0.403										HNSCC(12;0.0054)			G	104709365	A	G	104709365	2	3	29	1	0	0	0	0	0	0	0	1	13368	291	11	3		3	RIMS2	8	104709365	Silent	SNP	A	TCGA-BR-6454-01A-11D-1800-08	281815	104709365	41654657	65	33006											
TG	7038	broad.mit.edu	37	chr8	133898821	133898821	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgggcctctccaagagtaGccagatttgccacatcctgc	10	13	1	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr8:133898821G>T	uc003ytw.2	+	9	1245	c.1204G>T	c.(1204-1206)GCC>TCC	p.A402S		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	402					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCCAAGAGTAGCCAGATTTGC	0.557													T	133898821	G	T	133898821	3	4	29	1	0	0	0	0	1	0	0	0	15810	971	34	5	1238	5	TG	8	133898821	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	29189456	133898821	12465201	66	33007											
ZNF623	9831	broad.mit.edu	37	chr8	144732869	144732869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaatccttcataaggagctCgagcctcattcgccattatc	7	12	2	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr8:144732869C>T	uc003yzd.2	+	1	916	c.827C>T	c.(826-828)TCG>TTG	p.S276L	ZNF623_uc011lkp.1_Missense_Mutation_p.S236L|ZNF623_uc003yzc.2_Missense_Mutation_p.S236L	NM_014789	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623 isoform 1	276	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ATAAGGAGCTCGAGCCTCATT	0.468													T	144732869	C	T	144732869	3	4	29	1	0	0	0	0	1	0	0	0	18044	893	31	1	829	1	ZNF623	8	144732869	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	10834048	144732869	1631153	67	33008											
PTPRD	5789	broad.mit.edu	37	chr9	8331655	8331655	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacttggccgatgaagtcaaTaaatccttctccggactttg	9	10	2	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr9:8331655T>C	uc003zkk.2	-	43	6172	c.5461A>G	c.(5461-5463)ATT>GTT	p.I1821V	PTPRD_uc003zkp.2_Missense_Mutation_p.I1415V|PTPRD_uc003zkq.2_Missense_Mutation_p.I1414V|PTPRD_uc003zkr.2_Missense_Mutation_p.I1405V|PTPRD_uc003zks.2_Missense_Mutation_p.I1414V|PTPRD_uc003zkl.2_Missense_Mutation_p.I1812V|PTPRD_uc003zkm.2_Missense_Mutation_p.I1808V|PTPRD_uc003zkn.2_Missense_Mutation_p.I1410V|PTPRD_uc003zko.2_Missense_Mutation_p.I1411V	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1821	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATGAAGTCAATAAATCCTTCT	0.468										TSP Lung(15;0.13)			C	8331655	T	C	8331655	3	2	29	1	0	0	0	0	1	0	0	0	12799	1406	49	3	289	3	PTPRD	9	8331655	Missense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08		8331655	132881776	68	33009											
FOXB2	442425	broad.mit.edu	37	chr9	79634960	79634960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaagagcgcgccgggcgcCggtccgggagggcaccttca	16	15	1	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr9:79634960C>T	uc004ako.1	+	1	390	c.390C>T	c.(388-390)GCC>GCT	p.A130A		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	130					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						CGCCGGGCGCCGGTCCGGGAG	0.433													T	79634960	C	T	79634960	2	4	29	1	0	0	0	0	0	0	0	1	5993	639	23	1		1	FOXB2	9	79634960	Silent	SNP	C	TCGA-BR-6454-01A-11D-1800-08	71303305	79634960	61578471	69	33010											
EPB41L4B	54566	broad.mit.edu	37	chr9	111947780	111947780	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtacctaccagcctcgtttTgattggagggtacatgcaaa	11	9	0	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr9:111947780T>A	uc004bdz.1	-	23	2702	c.2407A>T	c.(2407-2409)AAA>TAA	p.K803*		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	803						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						AGCCTCGTTTTGATTGGAGGG	0.637													A	111947780	T	A	111947780	4	1	29	1	0	0	0	0	0	1	0	0	5156	1821	63	5	311	5	EPB41L4B	9	111947780	Nonsense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08	32312820	111947780	29265651	70	33011											
PAPPA	5069	broad.mit.edu	37	chr9	118974066	118974066	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccctgcatggagacagaGccctccttcgagactggaga	12	13	0	4			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr9:118974066G>A	uc004bjn.2	+	4	2154	c.1773G>A	c.(1771-1773)GAG>GAA	p.E591E	PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.1_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	591					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						TGGAGACAGAGCCCTCCTTCG	0.552													A	118974066	G	A	118974066	2	1	29	1	0	0	0	0	0	0	0	1	11432	962	34	2		2	PAPPA	9	118974066	Silent	SNP	G	TCGA-BR-6454-01A-11D-1800-08	7026286	118974066	22239365	71	33012											
RAPGEF1	2889	broad.mit.edu	37	chr9	134497285	134497285	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgtatacctccatgaggagCttgttcttctgctggtagat	10	10	2	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr9:134497285C>A	uc004cbc.2	-	11	1882	c.1752G>T	c.(1750-1752)AAG>AAT	p.K584N	RAPGEF1_uc004cbb.2_Missense_Mutation_p.K602N|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Missense_Mutation_p.K589N|RAPGEF1_uc004cbd.2_Missense_Mutation_p.K589N|RAPGEF1_uc010mzs.1_Missense_Mutation_p.K30N|RAPGEF1_uc010mzl.1_Missense_Mutation_p.K30N|RAPGEF1_uc010mzo.1_Missense_Mutation_p.K30N|RAPGEF1_uc010mzp.1_Missense_Mutation_p.K30N|RAPGEF1_uc010mzq.1_Missense_Mutation_p.K30N|RAPGEF1_uc010mzr.1_Missense_Mutation_p.K30N	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	584					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CCATGAGGAGCTTGTTCTTCT	0.622													A	134497285	C	A	134497285	3	1	29	1	0	0	0	0	1	0	0	0	13043	796	28	5	1537	5	RAPGEF1	9	134497285	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	15523219	134497285	6716146	72	33013											
C9orf96	169436	broad.mit.edu	37	chr9	136253262	136253262	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacctctgcctggtgatggAgttcaatgagctcagcttcc	11	11	3	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr9:136253262A>C	uc004cdk.2	+	5	387	c.326A>C	c.(325-327)GAG>GCG	p.E109A	C9orf96_uc004cdl.2_RNA	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	109	Protein kinase.						ATP binding|protein kinase activity			stomach(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTGGTGATGGAGTTCAATGAG	0.572													C	136253262	A	C	136253262	3	2	29	1	0	0	0	0	1	0	0	0	2508	304	11	5	344	5	C9orf96	9	136253262	Missense_Mutation	SNP	A	TCGA-BR-6454-01A-11D-1800-08	1755977	136253262	4960169	73	33014											
CYP2C9	1559	broad.mit.edu	37	chr10	96707655	96707655	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttaacttaatggaaaagTtgaatgaaaacatcaagatt	6	4	2	3			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr10:96707655T>C	uc001kka.3	+	4	626	c.601T>C	c.(601-603)TTG>CTG	p.L201L	CYP2C9_uc009xut.2_Silent_p.L201L	NM_000771	NP_000762	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C,	201					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(4)|ovary(2)	6		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AATGGAAAAGTTGAATGAAAA	0.368													C	96707655	T	C	96707655	2	2	29	1	0	0	0	0	0	0	0	1	4168	1722	60	3		3	CYP2C9	10	96707655	Silent	SNP	T	TCGA-BR-6454-01A-11D-1800-08		96707655	38827092	74	33015											
ADRB1	153	broad.mit.edu	37	chr10	115804689	115804689	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctgcgagcgccgtttcctCggcggcccagcgcggccgcc	15	18	0	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr10:115804689C>T	uc001lba.2	+	1	884	c.798C>T	c.(796-798)CTC>CTT	p.L266L		NM_000684	NP_000675	P08588	ADRB1_HUMAN	beta-1-adrenergic receptor	266	Cytoplasmic (By similarity).				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	GCCGTTTCCTCGGCGGCCCAG	0.398													T	115804689	C	T	115804689	2	4	29	1	0	0	0	0	0	0	0	1	340	871	31	1		1	ADRB1	10	115804689	Silent	SNP	C	TCGA-BR-6454-01A-11D-1800-08	19097034	115804689	19730058	75	33016											
PNLIPRP3	119548	broad.mit.edu	37	chr10	118215240	118215240	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacaattctttcagaaaaaaTttgaatattccccttctaaa	2	8	3	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr10:118215240T>A	uc001lcl.3	+	5	564	c.463T>A	c.(463-465)TTT>ATT	p.F155I		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	155					lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)		TCAGAAAAAATTTGAATATTC	0.373													A	118215240	T	A	118215240	3	1	29	1	0	0	0	0	1	0	0	0	12152	1493	52	5	481	5	PNLIPRP3	10	118215240	Missense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08	2410551	118215240	17319507	76	33017											
C11orf41	25758	broad.mit.edu	37	chr11	33589770	33589770	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctgggaagctacactgtGcaggtaggtgtatacagagc	13	9	0	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr11:33589770G>A	uc001mup.3	+	8	3478	c.3354G>A	c.(3352-3354)GTG>GTA	p.V1118V	C11orf41_uc001mun.1_Silent_p.V1118V	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1112						integral to membrane				ovary(2)	2						GCTACACTGTGCAGGTAGGTG	0.562													A	33589770	G	A	33589770	2	1	29	1	0	0	0	0	0	0	0	1	1640	1306	46	2		2	C11orf41	11	33589770	Silent	SNP	G	TCGA-BR-6454-01A-11D-1800-08		33589770	101416746	77	33018											
OR5T3	390154	broad.mit.edu	37	chr11	56019933	56019933	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgaggattcctggctccaCaaccccatgtattattttct	6	11	1	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr11:56019933C>A	uc010rjd.1	+	1	258	c.258C>A	c.(256-258)CAC>CAA	p.H86Q		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	86	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					CCTGGCTCCACAACCCCATGT	0.363													A	56019933	C	A	56019933	3	1	29	1	0	0	0	0	1	0	0	0	11183	477	17	5	260	5	OR5T3	11	56019933	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	22430163	56019933	78986583	78	33019											
INCENP	3619	broad.mit.edu	37	chr11	61898025	61898025	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agcagaaggcttgccaagaaGactgccgaagagccagctgc	13	11	0	4			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr11:61898025G>C	uc001nsw.1	+	4	1228	c.1026G>C	c.(1024-1026)AAG>AAC	p.K342N	INCENP_uc009ynv.2_Missense_Mutation_p.K342N|INCENP_uc009ynw.1_Missense_Mutation_p.K342N|INCENP_uc001nsx.1_Missense_Mutation_p.K342N	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	342					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1						TTGCCAAGAAGACTGCCGAAG	0.607													C	61898025	G	C	61898025	3	2	29	1	0	0	0	0	1	0	0	0	7733	933	33	5	1036	5	INCENP	11	61898025	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	5878092	61898025	73108491	79	33020											
SLC3A2	6520	broad.mit.edu	37	chr11	62648671	62648671	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcggcagccgcggctaAgttcacgggcctgtccaagg	17	12	1	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr11:62648671A>C	uc001nwd.2	+	4	703	c.479A>C	c.(478-480)AAG>ACG	p.K160T	SLC3A2_uc001nwb.2_Missense_Mutation_p.K191T|SLC3A2_uc001nwc.2_Missense_Mutation_p.K161T|SLC3A2_uc001nwe.2_Missense_Mutation_p.K129T|SLC3A2_uc001nwf.2_Missense_Mutation_p.K98T|SLC3A2_uc001nwg.2_Missense_Mutation_p.K59T|SLC3A2_uc010rml.1_5'Flank	NM_002394	NP_002385	P08195	4F2_HUMAN	solute carrier family 3, member 2 isoform c	160	Cytoplasmic (Potential).				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding				0						GCCGCGGCTAAGTTCACGGGC	0.687											OREG0021031	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	62648671	A	C	62648671	3	2	29	1	0	0	0	0	1	0	0	0	14627	72	3	5	593	5	SLC3A2	11	62648671	Missense_Mutation	SNP	A	TCGA-BR-6454-01A-11D-1800-08	750646	62648671	72357845	80	33021											
RBM4	5936	broad.mit.edu	37	chr11	66410965	66410965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccagccggcttaggactGcgcccgggatgggagaccag	15	14	0	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr11:66410965G>A	uc009yrj.2	+	3	945	c.457G>A	c.(457-459)GCG>ACG	p.A153T	RBM4_uc009yrk.2_Missense_Mutation_p.A128T|RBM4_uc001oiw.1_Missense_Mutation_p.A153T|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Missense_Mutation_p.A153T|RBM4_uc001oiz.1_Missense_Mutation_p.A153T	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	153					circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		GCTTAGGACTGCGCCCGGGAT	0.582													A	66410965	G	A	66410965	3	1	29	1	0	0	0	0	1	0	0	0	13134	1319	46	2	463	2	RBM4	11	66410965	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	3762294	66410965	68595551	81	33022											
IGHMBP2	3508	broad.mit.edu	37	chr11	68703977	68703977	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacgtccaccaggaccggaAgccagcggcaggagggaggc	16	13	0	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr11:68703977A>G	uc001ook.1	+	13	2131	c.2029A>G	c.(2029-2031)AGC>GGC	p.S677G	IGHMBP2_uc001ool.1_Missense_Mutation_p.S301G|IGHMBP2_uc001oom.1_Missense_Mutation_p.S255G	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	677	SS DNA-binding (By similarity).				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CAGGACCGGAAGCCAGCGGCA	0.627													G	68703977	A	G	68703977	3	3	29	1	0	0	0	0	1	0	0	0	7591	72	3	3	2079	3	IGHMBP2	11	68703977	Missense_Mutation	SNP	A	TCGA-BR-6454-01A-11D-1800-08	2293012	68703977	66302539	82	33023											
FAT3	120114	broad.mit.edu	37	chr11	92534124	92534124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcctctgtttcagtggccGacctcctggaaatcgatcct	10	13	2	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr11:92534124G>A	uc001pdj.3	+	9	7962	c.7945G>A	c.(7945-7947)GAC>AAC	p.D2649N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2649	Cadherin 24.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTCAGTGGCCGACCTCCTGGA	0.458										TCGA Ovarian(4;0.039)			A	92534124	G	A	92534124	3	1	29	1	0	0	0	0	1	0	0	0	5691	1058	37	1	7979	1	FAT3	11	92534124	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	23830147	92534124	42472392	83	33024											
ATM	472	broad.mit.edu	37	chr11	108121510	108121511	+	Frame_Shift_Del	DEL	TC	TC	-													ctccattactgatgatactaTctcagcttctaccccaacag							TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr11:108121510_108121511delTC	uc001pkb.1	+	10	1703_1704	c.1318_1319delTC	c.(1318-1320)TCTfs	p.S440fs	ATM_uc009yxr.1_Frame_Shift_Del_p.S440fs	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	440					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GATGATACTATCTCAGCTTCTA	0.401			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			-	108121511	TC	-	108121510	7	5	29	1	0	1	0	1	0	0	0	0	1109	1435	50	0	1352	0	ATM	11	108121510	Frame_Shift_Del	DEL	TC	TCGA-BR-6454-01A-11D-1800-08	15587386	108121510	26885006	84	33025											
ATM	472	broad.mit.edu	37	chr11	108163407	108163407	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgttgtgacttattaagtCaggtttgccagacagccgtg	11	7	1	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr11:108163407C>T	uc001pkb.1	+	30	4883	c.4498C>T	c.(4498-4500)CAG>TAG	p.Q1500*	ATM_uc009yxr.1_Nonsense_Mutation_p.Q1500*|ATM_uc001pke.1_Nonsense_Mutation_p.Q152*|ATM_uc001pkf.2_Intron	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1500					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTTATTAAGTCAGGTTTGCCA	0.403			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			T	108163407	C	T	108163407	4	4	29	1	0	0	0	0	0	1	0	0	1109	827	29	4	4612	4	ATM	11	108163407	Nonsense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	41897	108163407	26843109	85	33026											
SLC37A2	219855	broad.mit.edu	37	chr11	124949017	124949017	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttccccagtggggttttTggggagcggcttccgctccg	14	13	1	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr11:124949017T>G	uc001qbn.2	+	5	575	c.324T>G	c.(322-324)TTT>TTG	p.F108L	SLC37A2_uc010sau.1_Missense_Mutation_p.F108L	NM_001145290	NP_001138762	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glycerol-3-phosphate	108	Helical; (Potential).				carbohydrate transport|transmembrane transport	integral to membrane				ovary(2)	2	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		GTGGGGTTTTTGGGGAGCGGC	0.438													G	124949017	T	G	124949017	3	3	29	1	0	0	0	0	1	0	0	0	14598	1809	63	5	342	5	SLC37A2	11	124949017	Missense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08	16785610	124949017	10057499	86	33027											
NCAPD2	9918	broad.mit.edu	37	chr12	6623969	6623969	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caaaagtgtccccaagagctGagtcgagacccttcagggac	11	12	1	3			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr12:6623969G>A	uc001qoo.2	+	9	916	c.870G>A	c.(868-870)CTG>CTA	p.L290L	NCAPD2_uc009zen.1_Silent_p.L162L|NCAPD2_uc010sfd.1_Silent_p.L245L	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	290	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						CCCAAGAGCTGAGTCGAGACC	0.473													A	6623969	G	A	6623969	2	1	29	1	0	0	0	0	0	0	0	1	10205	1277	45	4		4	NCAPD2	12	6623969	Silent	SNP	G	TCGA-BR-6454-01A-11D-1800-08		6623969	127227926	87	33028											
SOX5	6660	broad.mit.edu	37	chr12	23757383	23757383	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgctggtaggagatacagCagcaccaaggttgccttggg	14	8	0	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr12:23757383C>A	uc001rfw.2	-	9	1204	c.1102G>T	c.(1102-1104)GCT>TCT	p.A368S	SOX5_uc001rfx.2_Missense_Mutation_p.A355S|SOX5_uc001rfy.2_Missense_Mutation_p.A355S|SOX5_uc010siv.1_Missense_Mutation_p.A355S|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.A320S	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	368					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						GGAGATACAGCAGCACCAAGG	0.507													A	23757383	C	A	23757383	3	1	29	1	0	0	0	0	1	0	0	0	14954	710	25	5	1227	5	SOX5	12	23757383	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	17133414	23757383	110094512	88	33029											
NELL2	4753	broad.mit.edu	37	chr12	44926420	44926420	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcatggtagccatctctgCactcacagtggtaccatcca	8	13	3	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr12:44926420C>A	uc001rog.2	-	16	2343	c.1748G>T	c.(1747-1749)TGC>TTC	p.C583F	NELL2_uc001rof.3_Missense_Mutation_p.C582F|NELL2_uc001roh.2_Missense_Mutation_p.C583F|NELL2_uc009zkd.2_Intron|NELL2_uc010skz.1_Missense_Mutation_p.C633F|NELL2_uc010sla.1_Missense_Mutation_p.C606F|NELL2_uc001roi.1_Missense_Mutation_p.C583F|NELL2_uc010slb.1_Missense_Mutation_p.C582F	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	583	EGF-like 5; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCCATCTCTGCACTCACAGTG	0.428													A	44926420	C	A	44926420	3	1	29	1	0	0	0	0	1	0	0	0	10334	710	25	5	722	5	NELL2	12	44926420	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	21169037	44926420	88925475	89	33030											
ARID2	196528	broad.mit.edu	37	chr12	46244555	46244555	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	atggttactattgctggtgtCccaagtccacaagcctcaag	9	11	1	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr12:46244555C>G	uc001ros.1	+	15	2649	c.2649C>G	c.(2647-2649)GTC>GTG	p.V883V	ARID2_uc001ror.2_Silent_p.V883V|ARID2_uc009zkg.1_Silent_p.V339V|ARID2_uc009zkh.1_Silent_p.V510V|ARID2_uc001rou.1_Silent_p.V217V	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	883	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTGCTGGTGTCCCAAGTCCAC	0.448													G	46244555	C	G	46244555	2	3	29	1	0	0	0	0	0	0	0	1	915	842	30	5		5	ARID2	12	46244555	Silent	SNP	C	TCGA-BR-6454-01A-11D-1800-08	1318135	46244555	87607340	90	33031											
ACVRL1	94	broad.mit.edu	37	chr12	52306272	52306272	+	Frame_Shift_Del	DEL	C	C	-													agggaccatgaccttgggctCccccaggaaaggccttctga							TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr12:52306271_52306271TC>T	uc001rzj.3	+	1	296	c.13_13TC>T	c.(13-15)tccfs	p.S5fs	ACVRL1_uc021qxz.1_Frame_Shift_Del_p.S5fs|ACVRL1_uc001rzk.3_Frame_Shift_Del_p.S5fs|ACVRL1_uc010snm.2_Frame_Shift_Del_p.S19fs	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	5					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GACCTTGGGCTCCCCCAGGAA	0.587													-	52306272	C	-	52306272	7	5	29	1	0	1	0	1	0	0	0	0	225	855	30	0	16	0	ACVRL1	12	52306272	Frame_Shift_Del	DEL	C	TCGA-BR-6454-01A-11D-1800-08	6061717	52306272	81545623	91	33032											
KRT73	319101	broad.mit.edu	37	chr12	53004496	53004496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtactcgcgcagcatccGtgccagctcctccttggcct	10	16	0	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr12:53004496G>A	uc001sas.2	-	7	1269	c.1234C>T	c.(1234-1236)CGG>TGG	p.R412W		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	412	Rod.|Coil 2.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGCAGCATCCGTGCCAGCTCC	0.647													A	53004496	G	A	53004496	3	1	29	1	0	0	0	0	1	0	0	0	8486	1144	40	1	400	1	KRT73	12	53004496	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	698224	53004496	80847399	92	33033											
ERBB3	2065	broad.mit.edu	37	chr12	56489534	56489534	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcggcacttttctctactggCgtgggcgccggattcagaat	13	11	2	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr12:56489534C>A	uc001sjh.2	+	17	2192	c.1999C>A	c.(1999-2001)CGT>AGT	p.R667S	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Missense_Mutation_p.R24S|ERBB3_uc010sqc.1_Missense_Mutation_p.R608S|ERBB3_uc009zok.2_Missense_Mutation_p.R109S|ERBB3_uc001sjk.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	667	Cytoplasmic (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TCTCTACTGGCGTGGGCGCCG	0.438													A	56489534	C	A	56489534	3	1	29	1	0	0	0	0	1	0	0	0	5208	768	27	5	2196	5	ERBB3	12	56489534	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	3485038	56489534	77362361	93	33034											
PTPRR	5801	broad.mit.edu	37	chr12	71050600	71050604	+	Splice_Site	DEL	GAAAA	GAAAA	-													gttctacctattcctgcactGaaaagaaaagaaaagaaatt							TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr12:71050599_71050603TGAAAA>T	uc001swi.2	-	13	2181	c.1767_splice	c.e13-1	p.S589_splice	PTPRR_uc001swf.2_Splice_Site|PTPRR_uc001swg.2_Splice_Site|PTPRR_uc001swh.2_Splice_Site_p.S344_splice|PTPRR_uc009zrs.3_Splice_Site_p.S383_splice|PTPRR_uc010stq.2_Splice_Site_p.S477_splice	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	589	Substrate binding (By similarity).|Tyrosine-protein phosphatase.				in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ATTCCTGCACTGAAAAGAAAAGAAA	0.361													-	71050604	GAAAA	-	71050600	8	5	29	1	0	1	0	1	0	0	1	0	12810	1305	45	0		0	PTPRR	12	71050600	Splice_Site	DEL	GAAAA	TCGA-BR-6454-01A-11D-1800-08	14561066	71050600	62801295	94	33035											
GLT8D2	83468	broad.mit.edu	37	chr12	104393227	104393227	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctgatcttccctttgaggAccatcgggttgaattccacg	10	11	2	3			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr12:104393227A>G	uc001tkh.1	-	6	756	c.350T>C	c.(349-351)GTC>GCC	p.V117A	GLT8D2_uc001tki.1_Missense_Mutation_p.V117A	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	117	Lumenal (Potential).					integral to membrane	transferase activity, transferring glycosyl groups			ovary(1)|skin(1)	2						CCCTTTGAGGACCATCGGGTT	0.443													G	104393227	A	G	104393227	3	3	29	1	0	0	0	0	1	0	0	0	6470	275	10	3	723	3	GLT8D2	12	104393227	Missense_Mutation	SNP	A	TCGA-BR-6454-01A-11D-1800-08	33342627	104393227	29458668	95	33036											
POP5	51367	broad.mit.edu	37	chr12	121018991	121018991	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgtgtcccgtacgaggctGctcagaactcggtcatcgag	12	12	2	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr12:121018991G>A	uc001tys.2	-	2	122	c.90C>T	c.(88-90)AGC>AGT	p.S30S	POP5_uc001tyt.2_Silent_p.S30S	NM_015918	NP_057002	Q969H6	POP5_HUMAN	processing of precursor 5 isoform a	30					tRNA processing		protein binding|ribonuclease P activity				0	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					GTACGAGGCTGCTCAGAACTC	0.662													A	121018991	G	A	121018991	2	1	29	1	0	0	0	0	0	0	0	1	12253	1310	46	2		2	POP5	12	121018991	Silent	SNP	G	TCGA-BR-6454-01A-11D-1800-08	16625764	121018991	12832904	96	33037											
TMEM132D	121256	broad.mit.edu	37	chr12	129566418	129566418	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagctccgtgatgtccacTtgccagtctgagcccagcag	10	14	2	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr12:129566418T>C	uc009zyl.1	-	7	2137	c.1809A>G	c.(1807-1809)CAA>CAG	p.Q603Q	TMEM132D_uc001uia.2_Silent_p.Q141Q	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	603	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGATGTCCACTTGCCAGTCTG	0.632													C	129566418	T	C	129566418	2	2	29	1	0	0	0	0	0	0	0	1	16044	1606	56	3		3	TMEM132D	12	129566418	Silent	SNP	T	TCGA-BR-6454-01A-11D-1800-08	8547427	129566418	4285477	97	33038											
POLE	5426	broad.mit.edu	37	chr12	133233758	133233758	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agggtgaagagctcactgatCttcttctgcttgtagacatc	10	9	4	4			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr12:133233758C>T	uc001uks.1	-	29	3590	c.3546G>A	c.(3544-3546)AAG>AAA	p.K1182K	POLE_uc001ukr.1_5'UTR|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Silent_p.K1155K	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1182					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCTCACTGATCTTCTTCTGCT	0.567								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	133233758	C	T	133233758	2	4	29	1	0	0	0	0	0	0	0	1	12196	912	32	4		4	POLE	12	133233758	Silent	SNP	C	TCGA-BR-6454-01A-11D-1800-08	3667340	133233758	618137	98	33039											
FLT1	2321	broad.mit.edu	37	chr13	29001983	29001983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcatcctcttcagttacGtccttgataattaacgagta	6	11	2	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr13:29001983G>A	uc001usb.3	-	9	1467	c.1182C>T	c.(1180-1182)GAC>GAT	p.D394D	FLT1_uc010aar.1_Silent_p.D394D|FLT1_uc001usc.3_Silent_p.D394D|FLT1_uc010tdp.1_Silent_p.D394D	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	394	Ig-like C2-type 4.|Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CTTCAGTTACGTCCTTGATAA	0.388													A	29001983	G	A	29001983	2	1	29	1	0	0	0	0	0	0	0	1	5941	1136	40	1		1	FLT1	13	29001983	Silent	SNP	G	TCGA-BR-6454-01A-11D-1800-08		29001983	86167895	99	33040											
SLC46A3	283537	broad.mit.edu	37	chr13	29292018	29292018	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attgctatcagatgaaaaagTgtagttgccagtttcttccc	8	8	2	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr13:29292018T>A	uc001usi.2	-	1	1088	c.118A>T	c.(118-120)ACT>TCT	p.T40S	SLC46A3_uc001usg.2_5'Flank|SLC46A3_uc001usj.2_Missense_Mutation_p.T40S|SLC46A3_uc001ush.2_Missense_Mutation_p.T40S|SLC46A3_uc001usk.2_5'Flank	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3 isoform a	40	Extracellular (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)|skin(1)	2		Lung SC(185;0.0367)		all cancers(112;0.159)		GATGAAAAAGTGTAGTTGCCA	0.368													A	29292018	T	A	29292018	3	1	29	1	0	0	0	0	1	0	0	0	14646	1696	59	5	1301	5	SLC46A3	13	29292018	Missense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08	290035	29292018	85877860	100	33041											
DGKH	160851	broad.mit.edu	37	chr13	42740687	42740687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttcgttctgtgttagtcCtctattggtttttgtcaatt	7	6	3	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr13:42740687C>T	uc001uyl.1	+	9	1016	c.995C>T	c.(994-996)CCT>CTT	p.P332L	DGKH_uc010tfh.1_Missense_Mutation_p.P332L|DGKH_uc001uym.1_Missense_Mutation_p.P332L|DGKH_uc010tfi.1_Missense_Mutation_p.P87L|DGKH_uc010tfj.1_Missense_Mutation_p.P187L|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.P187L|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	332	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TGTGTTAGTCCTCTATTGGTT	0.358													T	42740687	C	T	42740687	3	4	29	1	0	0	0	0	1	0	0	0	4470	681	24	4	1029	4	DGKH	13	42740687	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	13448669	42740687	72429191	101	33042											
KPNA3	3839	broad.mit.edu	37	chr13	50279853	50279853	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tagaaccacctgaaccacttGagaatctttcactgacagta	6	11	2	4			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr13:50279853G>C	uc001vdj.2	-	15	1691	c.1276C>G	c.(1276-1278)CAA>GAA	p.Q426E		NM_002267	NP_002258	O00505	IMA3_HUMAN	karyopherin alpha 3	426	ARM 9.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity				0		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		TGAACCACTTGAGAATCTTTC	0.363													C	50279853	G	C	50279853	3	2	29	1	0	0	0	0	1	0	0	0	8431	1299	45	5	301	5	KPNA3	13	50279853	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	7539166	50279853	64890025	102	33043											
TGM1	7051	broad.mit.edu	37	chr14	24724611	24724611	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggtgatgtcctcccgcatgTtggagctgatggcctttgtg	14	9	0	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr14:24724611T>A	uc001wod.2	-	11	1728	c.1604A>T	c.(1603-1605)AAC>ATC	p.N535I	TGM1_uc010tog.1_Missense_Mutation_p.N93I	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	535					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTCCCGCATGTTGGAGCTGAT	0.547													A	24724611	T	A	24724611	3	1	29	1	0	0	0	0	1	0	0	0	15826	1725	60	5	869	5	TGM1	14	24724611	Missense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08		24724611	82624929	103	33044											
HECTD1	25831	broad.mit.edu	37	chr14	31585523	31585523	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgaagcaatttttgtacaTagtaaaagatggttgatctg	9	3	1	3			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr14:31585523T>C	uc001wrc.1	-	30	6026	c.5537A>G	c.(5536-5538)TAT>TGT	p.Y1846C	HECTD1_uc001wra.1_5'UTR|HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.Y1314C	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1846					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTTTTGTACATAGTAAAAGAT	0.378													C	31585523	T	C	31585523	3	2	29	1	0	0	0	0	1	0	0	0	7039	1406	49	3	2351	3	HECTD1	14	31585523	Missense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08	6860912	31585523	75764017	104	33045											
HIF1A	3091	broad.mit.edu	37	chr14	62207644	62207664	+	In_Frame_Del	DEL	ACTGCTAATGCCACCACTACC	ACTGCTAATGCCACCACTACC	-													agactcaaatacaagaacctActgctaatgccaccactacc					rs75521089		TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr14:62207643_62207663TACTGCTAATGCCACCACTACC>T	uc001xfq.2	+	11	2234_2254	c.1830_1850TACTGCTAATGCCACCACTACC>T	c.(1828-1851)cctactgctaatgccaccactacc>ccTc	p.TANATTT611del	HIF1A_uc001xfr.2_In_Frame_Del_p.TANATTT611del|HIF1A_uc001xfs.2_In_Frame_Del_p.TANATTT612del|HIF1A_uc021rua.1_In_Frame_Del_p.TANATTT635del	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	Homo sapiens hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) (HIF1A), transcript variant 1, mRNA.	611	ID.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	Hsp90 protein binding|histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		TACAAGAACCTACTGCTAATGCCACCACTACCACTGCCACC	0.421													-	62207664	ACTGCTAATGCCACCACTACC	-	62207644	7	5	29	1	0	1	0	1	0	0	0	0	7103	391	14	0	1877	0	HIF1A	14	62207644	In_Frame_Del	DEL	ACTGCTAATGCCACCACTACC	TCGA-BR-6454-01A-11D-1800-08	30622121	62207644	45141896	105	33046											
SPTB	6710	broad.mit.edu	37	chr14	65252605	65252605	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accccaagaaatcctcaaacTtccggatcccagcctctgca	5	17	2	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr14:65252605T>A	uc001xht.2	-	16	3680	c.3626A>T	c.(3625-3627)AAG>ATG	p.K1209M	SPTB_uc001xhr.2_Missense_Mutation_p.K1209M|SPTB_uc001xhs.2_Missense_Mutation_p.K1209M|SPTB_uc001xhu.2_Missense_Mutation_p.K1209M	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	1209	Spectrin 9.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ATCCTCAAACTTCCGGATCCC	0.512													A	65252605	T	A	65252605	3	1	29	1	0	0	0	0	1	0	0	0	15117	1609	56	5	3509	5	SPTB	14	65252605	Missense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08	3044961	65252605	42096935	106	33047											
KIAA1409	57578	broad.mit.edu	37	chr14	94088124	94088124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcttttgtttacattagaCgaacatcgtaggaagtcgtg	10	7	0	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr14:94088124C>T	uc001ybv.1	+	28	4163	c.4080C>T	c.(4078-4080)GAC>GAT	p.D1360D	KIAA1409_uc001ybs.1_Silent_p.D1338D	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1515						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		TTACATTAGACGAACATCGTA	0.438													T	94088124	C	T	94088124	2	4	29	1	0	0	0	0	0	0	0	1	8230	535	19	1		1	KIAA1409	14	94088124	Silent	SNP	C	TCGA-BR-6454-01A-11D-1800-08	28835519	94088124	13261416	107	33048											
HERC2	8924	broad.mit.edu	37	chr15	28412927	28412927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcggaggctgagggggccGacggagtcactgcagagggg	22	8	1	2	rs146303265	byFrequency	TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr15:28412927G>A	uc001zbj.2	-	68	10566	c.10460C>T	c.(10459-10461)TCG>TTG	p.S3487L		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3487					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGAGGGGGCCGACGGAGTCAC	0.532													A	28412927	G	A	28412927	3	1	29	1	0	0	0	0	1	0	0	0	7058	1059	37	1	4148	1	HERC2	15	28412927	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08		28412927	74118465	108	33049											
KIAA1370	56204	broad.mit.edu	37	chr15	52970229	52970229	+	Translation_Start_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttcattttcacatccAattttcgcccagagtgctgt	7	12	2	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr15:52970229A>C	uc002acg.3	-	2	143	c.-10T>G	c.(-12--8)ATTGG>ATGGG		KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Translation_Start_Site	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204												0				all cancers(107;0.0803)		TTTCACATCCAATTTTCGCCC	0.458													C	52970229	A	C	52970229	1	2	29	1	0	0	0	0	0	0	0	0	8226	145	5	5		5	KIAA1370	15	52970229	Translation_Start_Site	SNP	A	TCGA-BR-6454-01A-11D-1800-08	24557302	52970229	49561163	109	33050											
TEX9	374618	broad.mit.edu	37	chr15	56704540	56704540	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actgcaaaaacaggctgcaaGtagtcaaagtgccacagagg	11	9	1	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr15:56704540G>C	uc002adp.2	+	10	874	c.869G>C	c.(868-870)AGT>ACT	p.S290T	TEX9_uc010ugl.1_Missense_Mutation_p.S215T	NM_198524	NP_940926	Q8N6V9	TEX9_HUMAN	testis expressed 9	290	Potential.										0				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		CAGGCTGCAAGTAGTCAAAGT	0.328													C	56704540	G	C	56704540	3	2	29	1	0	0	0	0	1	0	0	0	15781	1029	36	5	907	5	TEX9	15	56704540	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	3734311	56704540	45826852	110	33051											
MNS1	55329	broad.mit.edu	37	chr15	56748664	56748664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagttttgccaattccataGccagtttttcttcttgtttg	6	9	3	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr15:56748664G>A	uc002adr.2	-	3	446	c.281C>T	c.(280-282)GCT>GTT	p.A94V	MNS1_uc010bfo.2_5'UTR	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	94	Potential.|Glu-rich.				meiosis					ovary(1)	1				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		CAATTCCATAGCCAGTTTTTC	0.348													A	56748664	G	A	56748664	3	1	29	1	0	0	0	0	1	0	0	0	9677	971	34	2	1238	2	MNS1	15	56748664	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	44124	56748664	45782728	111	33052											
EDC3	80153	broad.mit.edu	37	chr15	74948184	74948184	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accgagtgggcctttcatttGggatgccccgggaacgggta	15	10	1	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr15:74948184G>C	uc002ayn.2	-	7	1198	c.710C>G	c.(709-711)CCA>CGA	p.P237R	EDC3_uc002ayo.2_Missense_Mutation_p.P237R|EDC3_uc002aym.2_Missense_Mutation_p.P237R	NM_001142443	NP_001135915	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	237	Required for interaction with DDX6 (By similarity).				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1						CCTTTCATTTGGGATGCCCCG	0.507													C	74948184	G	C	74948184	3	2	29	1	0	0	0	0	1	0	0	0	4907	1348	47	5	832	5	EDC3	15	74948184	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	18199520	74948184	27583208	112	33053											
KIAA1199	57214	broad.mit.edu	37	chr15	81187373	81187373	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctcagcaccgaggttgtcTacaaaaaaggccaggattat	9	10	2	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr15:81187373T>C	uc002bfw.1	+	10	1389	c.1129T>C	c.(1129-1131)TAC>CAC	p.Y377H	KIAA1199_uc010unn.1_Missense_Mutation_p.Y377H	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	377										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						CGAGGTTGTCTACAAAAAAGG	0.498													C	81187373	T	C	81187373	3	2	29	1	0	0	0	0	1	0	0	0	8213	1522	53	3	1163	3	KIAA1199	15	81187373	Missense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08	6239189	81187373	21344019	113	33054											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84506901	84506901	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggacaactgtggagtctgtGccggcgatggctccacctgc	14	12	1	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr15:84506901G>T	uc002bjz.3	+	7	885	c.661G>T	c.(661-663)GCC>TCC	p.A221S	ADAMTSL3_uc002bjy.1_Missense_Mutation_p.A221S|ADAMTSL3_uc010bmt.1_Missense_Mutation_p.A221S|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.A221S	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	221						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGAGTCTGTGCCGGCGATGG	0.522													T	84506901	G	T	84506901	3	4	29	1	0	0	0	0	1	0	0	0	276	1319	46	5	683	5	ADAMTSL3	15	84506901	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	3319528	84506901	18024491	114	33055											
KLHL25	64410	broad.mit.edu	37	chr15	86311859	86311859	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctgccagggatgtgtgtcCccccaccacatagaggcagt	11	15	0	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr15:86311859C>A	uc002bly.2	-	2	1386	c.1183G>T	c.(1183-1185)GGA>TGA	p.G395*		NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	BTB/POZ KELCH domain protein	395	Kelch 3.					cytoplasm				ovary(2)	2						GATGTGTGTCCCCCCACCACA	0.602													A	86311859	C	A	86311859	4	1	29	1	0	0	0	0	0	1	0	0	8380	632	22	5	590	5	KLHL25	15	86311859	Nonsense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	1804958	86311859	16219533	115	33056											
AGBL1	123624	broad.mit.edu	37	chr15	87089267	87089267	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatggccactcccaaaagaAgaatgtgttcctttatggct	8	11	0	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr15:87089267A>C	uc002blz.1	+	19	2662	c.2582A>C	c.(2581-2583)AAG>ACG	p.K861T		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	861					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						TCCCAAAAGAAGAATGTGTTC	0.438													C	87089267	A	C	87089267	3	2	29	1	0	0	0	0	1	0	0	0	375	72	3	5	2652	5	AGBL1	15	87089267	Missense_Mutation	SNP	A	TCGA-BR-6454-01A-11D-1800-08	777408	87089267	15442125	116	33057											
BLM	641	broad.mit.edu	37	chr15	91304081	91304081	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaaaggcctttattcaAtacccatttacagaagtcct	5	9	1	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr15:91304081A>G	uc002bpr.2	+	7	1575	c.1478A>G	c.(1477-1479)AAT>AGT	p.N493S	BLM_uc010uqh.1_Missense_Mutation_p.N493S|BLM_uc010uqi.1_Missense_Mutation_p.N118S|BLM_uc010bnx.2_Missense_Mutation_p.N493S|BLM_uc002bps.1_Missense_Mutation_p.N55S	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	493					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CCTTTATTCAATACCCATTTA	0.403			Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				G	91304081	A	G	91304081	3	3	29	1	0	0	0	0	1	0	0	0	1445	101	4	3	1500	3	BLM	15	91304081	Missense_Mutation	SNP	A	TCGA-BR-6454-01A-11D-1800-08	4214814	91304081	11227311	117	33058											
PGPEP1L	145814	broad.mit.edu	37	chr15	99511811	99511811	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggatgatgactctcaAggctcttcccagcaggctgg	11	12	2	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr15:99511811A>C	uc002bum.2	-	5	693	c.487T>G	c.(487-489)TTG>GTG	p.L163V	PGPEP1L_uc010bop.2_Silent_p.P107P|PGPEP1L_uc002bun.2_RNA	NM_001102612	NP_001096082	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase 1-like protein	163					proteolysis		cysteine-type peptidase activity				0						ATGACTCTCAAGGCTCTTCCC	0.562													C	99511811	A	C	99511811	3	2	29	1	0	0	0	0	1	0	0	0	11804	69	3	5	107	5	PGPEP1L	15	99511811	Missense_Mutation	SNP	A	TCGA-BR-6454-01A-11D-1800-08	8207730	99511811	3019581	118	33059											
LYSMD4	145748	broad.mit.edu	37	chr15	100272076	100272076	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcaaaaccacacggtgAgactcttcttcagaagagtc	10	12	3	3			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr15:100272076A>G	uc002bvk.2	-	2	192	c.129T>C	c.(127-129)TCT>TCC	p.S43S	LYSMD4_uc002bvj.1_Intron|LYSMD4_uc010bou.1_Intron|LYSMD4_uc002bvl.2_Missense_Mutation_p.L14P|LYSMD4_uc002bvm.2_Silent_p.S43S|LYSMD4_uc010bov.2_Silent_p.S43S			Q5XG99	LYSM4_HUMAN	SubName: Full=cDNA FLJ77040, highly similar to Homo sapiens LysM, putative peptidoglycan-binding, domain containing 4, mRNA; SubName: Full=LysM, putative peptidoglycan-binding, domain containing 4, isoform CRA_c;	43	Extracellular (Potential).				cell wall macromolecule catabolic process	integral to membrane					0	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			CCACACGGTGAGACTCTTCTT	0.627													G	100272076	A	G	100272076	2	3	29	1	0	0	0	0	0	0	0	1	9127	304	11	3		3	LYSMD4	15	100272076	Silent	SNP	A	TCGA-BR-6454-01A-11D-1800-08	760265	100272076	2259316	119	33060											
TSC2	7249	broad.mit.edu	37	chr16	2134593	2134593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcgcccagtggcctccGgccccgaggttacaccatct	10	19	1	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr16:2134593G>A	uc002con.2	+	34	4476	c.4370G>A	c.(4369-4371)CGG>CAG	p.R1457Q	TSC2_uc010bsd.2_Missense_Mutation_p.R1434Q|TSC2_uc002coo.2_Missense_Mutation_p.R1390Q|TSC2_uc010uvv.1_Missense_Mutation_p.R1354Q|TSC2_uc010uvw.1_Missense_Mutation_p.R1342Q|TSC2_uc002cop.2_Missense_Mutation_p.R1213Q|TSC2_uc002coq.2_Missense_Mutation_p.R232Q|TSC2_uc002cor.2_Missense_Mutation_p.R158Q	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	1457					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				AGTGGCCTCCGGCCCCGAGGT	0.672			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				A	2134593	G	A	2134593	3	1	29	1	0	0	0	0	1	0	0	0	16603	1116	39	1	4500	1	TSC2	16	2134593	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08		2134593	88220160	120	33061											
OTOA	146183	broad.mit.edu	37	chr16	21698841	21698841	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acactggagaggtgtttccaGatgctgaactccctggagtg	13	9	0	3			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr16:21698841G>A	uc002djh.2	+	7	508	c.507G>A	c.(505-507)CAG>CAA	p.Q169Q	uc002diq.3_Intron|OTOA_uc010vbj.1_Silent_p.Q90Q	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	169					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		GGTGTTTCCAGATGCTGAACT	0.572													A	21698841	G	A	21698841	2	1	29	1	0	0	0	0	0	0	0	1	11302	933	33	4		4	OTOA	16	21698841	Silent	SNP	G	TCGA-BR-6454-01A-11D-1800-08	19564248	21698841	68655912	121	33062											
TMEM219	124446	broad.mit.edu	37	chr16	29979459	29979459	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctaccctccagccagccaCccatatcctgctcagaggag	7	18	1	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr16:29979459C>A	uc002duw.2	+	4	636	c.469C>A	c.(469-471)CCC>ACC	p.P157T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TMEM219_uc002duy.2_Missense_Mutation_p.P157T|TMEM219_uc010bzk.1_Missense_Mutation_p.P157T|TMEM219_uc002duz.2_Missense_Mutation_p.P157T|TMEM219_uc010bzl.1_RNA	NM_194280	NP_919256	Q86XT9	TM219_HUMAN	transmembrane protein 219	157						integral to membrane					0						CAGCCAGCCACCCATATCCTG	0.542													A	29979459	C	A	29979459	3	1	29	1	0	0	0	0	1	0	0	0	16139	507	18	5	479	5	TMEM219	16	29979459	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	8280618	29979459	60375294	122	33063											
MAF	4094	broad.mit.edu	37	chr16	79633675	79633675	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacggccgcactggctgatgAtgcggtcggtctccaccggt	15	13	1	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr16:79633675A>T	uc002ffn.2	-	1	948	c.125T>A	c.(124-126)ATC>AAC	p.I42N	MAF_uc002ffm.2_Missense_Mutation_p.I42N	NM_001031804	NP_001026974	O75444	MAF_HUMAN	v-maf musculoaponeurotic fibrosarcoma oncogene	42					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		CTGGCTGATGATGCGGTCGGT	0.612			T	IGH@	MM								T	79633675	A	T	79633675	3	4	29	1	0	0	0	0	1	0	0	0	9155	333	12	5	1098	5	MAF	16	79633675	Missense_Mutation	SNP	A	TCGA-BR-6454-01A-11D-1800-08	49654216	79633675	10721078	123	33064											
MYH3	4621	broad.mit.edu	37	chr17	10544483	10544483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccaggacaccgttacacCgcagctggtgcagaacaagg	11	14	0	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr17:10544483C>T	uc002gmq.1	-	18	2161	c.2084G>A	c.(2083-2085)CGG>CAG	p.R695Q		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	695	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						ACCGTTACACCGCAGCTGGTG	0.483													T	10544483	C	T	10544483	3	4	29	1	0	0	0	0	1	0	0	0	10036	652	23	1	3830	1	MYH3	17	10544483	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08		10544483	70650727	124	33065											
RNF112	7732	broad.mit.edu	37	chr17	19318451	19318451	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgccaggggtactggaaCgaggggcgcgccgtggccag	19	12	0	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr17:19318451C>T	uc010vyw.1	+	11	1426	c.1227C>T	c.(1225-1227)AAC>AAT	p.N409N	RNF112_uc010vyv.1_Silent_p.N410N|RNF112_uc010vyx.1_Silent_p.N292N	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	409							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2						GGTACTGGAACGAGGGGCGCG	0.637													T	19318451	C	T	19318451	2	4	29	1	0	0	0	0	0	0	0	1	13426	535	19	1		1	RNF112	17	19318451	Silent	SNP	C	TCGA-BR-6454-01A-11D-1800-08	8773968	19318451	61876759	125	33066											
SSH2	85464	broad.mit.edu	37	chr17	27963708	27963709	+	Frame_Shift_Ins	INS	-	-	G													tcagcaatctggtctgctgaINSggtggtgatatccttcttgt							TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr17:27963708_27963709insG	uc002heo.1	-	14	1458_1459	c.1458_1459insC	c.(1456-1461)ACCTCAfs	p.T486fs	SSH2_uc010wbh.1_Frame_Shift_Ins_p.T513fs	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	486_487					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						TGGTCTGCTGAGGTGGTGATAT	0.475													G	27963709	-	G	27963708	7	5	29	1	0	1	1	0	0	0	0	0	15184	304	11	0	2820	0	SSH2	17	27963708	Frame_Shift_Ins	INS	-	TCGA-BR-6454-01A-11D-1800-08	8645257	27963708	53231502	126	33067	112	2									
SSH2	85464	broad.mit.edu	37	chr17	27963709	27963710	+	Frame_Shift_Ins	INS	-	-	G													cagcaatctggtctgctgagINSgtggtgatatccttcttgtt							TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr17:27963708_27963709A>AG	uc002heo.1	-	13	1458_1459	c.1458_1459T>CT	c.(1456-1461)acctcafs	p.T486fs	SSH2_uc010wbh.1_Frame_Shift_Ins_p.T513fs	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	486					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGTCTGCTGAGGTGGTGATAT	0.475													G	27963710	-	G	27963709	7	5	29	1	0	1	1	0	0	0	0	0	15184	987	35	0	2821	0	SSH2	17	27963709	Frame_Shift_Ins	INS	-	TCGA-BR-6454-01A-11D-1800-08	1	27963709	53231501	127	33068	112	2									
SSH2	85464	broad.mit.edu	37	chr17	28004742	28004742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagagaggcaaaactaagCccatggtacaagtgctactg	10	10	0	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr17:28004742C>T	uc002heo.1	-	6	416	c.416G>A	c.(415-417)GGC>GAC	p.G139D	SSH2_uc010wbh.1_Missense_Mutation_p.G166D|SSH2_uc002hep.1_Missense_Mutation_p.G139D|SSH2_uc002heq.2_Missense_Mutation_p.G146D|SSH2_uc002her.2_Missense_Mutation_p.G139D|SSH2_uc010csc.1_Missense_Mutation_p.G139D	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	139					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						CAAAACTAAGCCCATGGTACA	0.443													T	28004742	C	T	28004742	3	4	29	1	0	0	0	0	1	0	0	0	15184	739	26	2	3895	2	SSH2	17	28004742	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	41033	28004742	53190468	128	33069											
EVI2A	2123	broad.mit.edu	37	chr17	29645449	29645449	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgttttgttcttttccaagTgtctgattcagcgggccata	9	9	3	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr17:29645449T>G	uc002hgm.2	-	2	798	c.583A>C	c.(583-585)ACT>CCT	p.T195P	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2A_uc002hgl.2_Missense_Mutation_p.T218P	NM_014210	NP_055025	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A isoform 2	195	Cytoplasmic (Potential).					integral to membrane	transmembrane receptor activity			ovary(1)|breast(1)	2		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		CTTTTCCAAGTGTCTGATTCA	0.468													G	29645449	T	G	29645449	3	3	29	1	0	0	0	0	1	0	0	0	5287	1696	59	5	131	5	EVI2A	17	29645449	Missense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08	1640707	29645449	51549761	129	33070											
NLE1	54475	broad.mit.edu	37	chr17	33464132	33464132	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcccggtgaggatgcgcTcacagcggcctgcagttgtg	16	11	1	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr17:33464132T>A	uc002hiy.1	-	7	744	c.716A>T	c.(715-717)GAG>GTG	p.E239V	NLE1_uc010ctn.1_5'UTR|NLE1_uc002hiz.1_5'UTR	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Notchless gene homolog isoform a	239	WD 3.					nucleolus				breast(3)|ovary(1)	4		Ovarian(249;0.17)				GAGGATGCGCTCACAGCGGCC	0.632													A	33464132	T	A	33464132	3	1	29	1	0	0	0	0	1	0	0	0	10460	1551	54	5	769	5	NLE1	17	33464132	Missense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08	3818683	33464132	47731078	130	33071											
PSME3	10197	broad.mit.edu	37	chr17	40986840	40986840	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agatccactctgacatgaatCtcccagtccctgaccccatt	5	16	2	4			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr17:40986840C>A	uc002ibr.2	+	4	416	c.190C>A	c.(190-192)CTC>ATC	p.L64I	PSME3_uc002ibp.2_Missense_Mutation_p.L3I|PSME3_uc002ibq.2_Missense_Mutation_p.L64I|PSME3_uc002ibs.2_Missense_Mutation_p.L75I|PSME3_uc010whd.1_5'UTR	NM_005789	NP_005780	P61289	PSME3_HUMAN	proteasome activator subunit 3 isoform 1	64					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding				0		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGACATGAATCTCCCAGTCCC	0.428													A	40986840	C	A	40986840	3	1	29	1	0	0	0	0	1	0	0	0	12708	913	32	5	204	5	PSME3	17	40986840	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	7522708	40986840	40208370	131	33072											
KIF2B	84643	broad.mit.edu	37	chr17	51901650	51901650	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggcaaacacctgtcaAcgctcactcatccaggagcc	7	16	3	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr17:51901650A>C	uc002iua.2	+	1	1412	c.1256A>C	c.(1255-1257)AAC>ACC	p.N419T	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	419	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						ACACCTGTCAACGCTCACTCA	0.512													C	51901650	A	C	51901650	3	2	29	1	0	0	0	0	1	0	0	0	8298	43	2	5	1258	5	KIF2B	17	51901650	Missense_Mutation	SNP	A	TCGA-BR-6454-01A-11D-1800-08	10914810	51901650	29293560	132	33073											
RAD51C	5889	broad.mit.edu	37	chr17	56780681	56780699	+	Splice_Site	DEL	ACACTCAAAGGTATGAGTC	ACACTCAAAGGTATGAGTC	-													cttccagatttcctttcagaAcactcaaaggtatgagtcag							TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr17:56780680_56780698AACACTCAAAGGTATGAGTC>A	uc002iwu.3	+	4	747	c.705_splice	c.e4+1	p.K235_splice	RAD51C_uc010woa.1_Splice_Site_p.K235_splice|RAD51C_uc010ddc.3_Splice_Site|RAD51C_uc002iww.3_Splice_Site|RAD51C_uc010wob.1_3'UTR	NM_058216	NP_478123	O43502	RA51C_HUMAN	Homo sapiens RAD51 homolog C (S. cerevisiae) (RAD51C), transcript variant 1, mRNA.	235					DNA repair|blood coagulation	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTCCTTTCAGAACACTCAAAGGTATGAGTCAGACTACTG	0.329								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				-	56780699	ACACTCAAAGGTATGAGTC	-	56780681	8	5	29	1	0	1	0	1	0	0	1	0	12988	40	2	0	714	0	RAD51C	17	56780681	Splice_Site	DEL	ACACTCAAAGGTATGAGTC	TCGA-BR-6454-01A-11D-1800-08	4879031	56780681	24414529	133	33074											
BAHCC1	57597	broad.mit.edu	37	chr17	79423467	79423467	+	Frame_Shift_Del	DEL	G	G	-													agcagaaggaggctacccccGgggggcgcatccgggagaag							TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr17:79423467delG	uc002kaf.2	+	14	4714	c.4714delG	c.(4714-4716)GGGfs	p.G1572fs	BAHCC1_uc002kae.2_Frame_Shift_Del_p.G802fs	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BAH domain and coiled-coil containing 1	1572							DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			GGCTACCCCCGGGGGGCGCAT	0.682													-	79423467	G	-	79423467	7	5	29	1	0	1	0	1	0	0	0	0	1296	1116	39	0	4607	0	BAHCC1	17	79423467	Frame_Shift_Del	DEL	G	TCGA-BR-6454-01A-11D-1800-08	22642786	79423467	1771743	134	33075											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260170	44260170	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggggttcatggggaaggcCcagaagccaaagaggtgcac	17	8	1	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr18:44260170C>T	uc002lcj.1	-	7	1534	c.966G>A	c.(964-966)TGG>TGA	p.W322*	ST8SIA5_uc002lci.1_Nonsense_Mutation_p.W169*|ST8SIA5_uc010xcy.1_Nonsense_Mutation_p.W358*|ST8SIA5_uc010xcz.1_Nonsense_Mutation_p.W291*	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	322	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						TGGGGAAGGCCCAGAAGCCAA	0.627													T	44260170	C	T	44260170	4	4	29	1	0	0	0	0	0	1	0	0	15234	624	22	4	168	4	ST8SIA5	18	44260170	Nonsense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08		44260170	33817078	135	33076											
CDH7	1005	broad.mit.edu	37	chr18	63511056	63511056	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttctttacaggagctggaTtttgaagccaaaacaagtta	8	7	1	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr18:63511056T>G	uc002ljz.2	+	7	1315	c.990T>G	c.(988-990)GAT>GAG	p.D330E	CDH7_uc002lka.2_Missense_Mutation_p.D330E|CDH7_uc002lkb.2_Missense_Mutation_p.D330E	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	330	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				AGGAGCTGGATTTTGAAGCCA	0.418													G	63511056	T	G	63511056	3	3	29	1	0	0	0	0	1	0	0	0	3115	1490	52	5	1012	5	CDH7	18	63511056	Missense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08	19250886	63511056	14566192	136	33077											
SALL3	27164	broad.mit.edu	37	chr18	76753964	76753964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctagactcgatgcaaaCgtcggaaacctcgaagctgc	11	12	0	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr18:76753964C>T	uc002lmt.2	+	2	1973	c.1973C>T	c.(1972-1974)ACG>ATG	p.T658M	SALL3_uc010dra.2_Missense_Mutation_p.T265M	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	658					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCGATGCAAACGTCGGAAACC	0.647													T	76753964	C	T	76753964	3	4	29	1	0	0	0	0	1	0	0	0	13812	536	19	1	1979	1	SALL3	18	76753964	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	13242908	76753964	1323284	137	33078											
VAV1	7409	broad.mit.edu	37	chr19	6828660	6828661	+	Frame_Shift_Ins	INS	-	-	AAGCG													tcagtgcgtgaacgaggtcaINSagcgagacaacgagacactg							TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr19:6828659_6828660C>CAAGCG	uc002mfu.1	+	11	1216_1217	c.1119_1120C>CAAGCG	c.(1117-1122)gtcaagfs	p.V373fs	VAV1_uc010xjh.1_Frame_Shift_Ins_p.V341fs|VAV1_uc010dva.1_Frame_Shift_Ins_p.V373fs|VAV1_uc002mfv.1_Frame_Shift_Ins_p.V318fs	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	373	DH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TGAACGAGGTCAAGCGAGACAA	0.634													AAGCG	6828661	-	AAGCG	6828660	7	5	29	1	0	1	1	0	0	0	0	0	17128	131	5	0	1166	0	VAV1	19	6828660	Frame_Shift_Ins	INS	-	TCGA-BR-6454-01A-11D-1800-08		6828660	52300323	138	33079											
MUC16	94025	broad.mit.edu	37	chr19	9071727	9071727	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaggtggcactgtggacTtatcatggtctggggtggaa	16	6	3	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr19:9071727T>G	uc002mkp.2	-	3	15923	c.15719A>C	c.(15718-15720)AAG>ACG	p.K5240T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5242	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CACTGTGGACTTATCATGGTC	0.473													G	9071727	T	G	9071727	3	3	29	1	0	0	0	0	1	0	0	0	9973	1609	56	5	28132	5	MUC16	19	9071727	Missense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08	2243067	9071727	50057256	139	33080											
ZNF793	390927	broad.mit.edu	37	chr19	38028045	38028045	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taagagaaactgtgcaaaaaAgcaagatgagtgttatgctt	10	4	0	3			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr19:38028045A>G	uc010efm.2	+	8	927	c.485A>G	c.(484-486)AAG>AGG	p.K162R	ZNF793_uc010xts.1_Missense_Mutation_p.K162R|ZNF793_uc010efo.2_Intron	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	zinc finger protein 793	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGCAAAAAAGCAAGATGAG	0.398													G	38028045	A	G	38028045	3	3	29	1	0	0	0	0	1	0	0	0	18162	72	3	3	499	3	ZNF793	19	38028045	Missense_Mutation	SNP	A	TCGA-BR-6454-01A-11D-1800-08	28956318	38028045	21100938	140	33081											
CYP2A7	1549	broad.mit.edu	37	chr19	41383171	41383171	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcatggggatcacgtctccaAatctttggatctcgtggatc	10	10	5	0	rs150178247		TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr19:41383171A>T	uc002opm.2	-	7	1627	c.1085T>A	c.(1084-1086)TTT>TAT	p.F362Y	CYP2A7_uc002opo.2_Missense_Mutation_p.F362Y|CYP2A7_uc002opn.2_Missense_Mutation_p.F311Y	NM_000764	NP_000755	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A,	362						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CACGTCTCCAAATCTTTGGAT	0.532													T	41383171	A	T	41383171	3	4	29	1	0	0	0	0	1	0	0	0	4163	14	1	5	411	5	CYP2A7	19	41383171	Missense_Mutation	SNP	A	TCGA-BR-6454-01A-11D-1800-08	3355126	41383171	17745812	141	33082											
PSG8	440533	broad.mit.edu	37	chr19	43258561	43258561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagagcaagcatagagcccGctatgctttgtagtaatttg	10	8	0	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr19:43258561G>A	uc002ouo.2	-	5	1265	c.1167C>T	c.(1165-1167)AGC>AGT	p.S389S	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Silent_p.S228S|PSG8_uc002ouh.2_Silent_p.S389S|PSG8_uc010ein.2_Silent_p.S267S|PSG8_uc002ouj.3_Silent_p.S171S|PSG8_uc002ouk.3_Silent_p.S228S|PSG8_uc002oul.3_Silent_p.S389S|PSG8_uc002oum.3_Silent_p.S296S|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Silent_p.S296S	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8 isoform	389	Ig-like C2-type 3.					extracellular region					0		Prostate(69;0.00899)				CATAGAGCCCGCTATGCTTTG	0.468													A	43258561	G	A	43258561	2	1	29	1	0	0	0	0	0	0	0	1	12661	1078	38	1		1	PSG8	19	43258561	Silent	SNP	G	TCGA-BR-6454-01A-11D-1800-08	1875390	43258561	15870422	142	33083											
ZNF227	7770	broad.mit.edu	37	chr19	44740983	44740983	+	Nonstop_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catactggtaaaaagctttaGaaatgagaaatgtgttacca	8	5	0	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr19:44740983G>T	uc002oyu.2	+	6	2605	c.2400G>T	c.(2398-2400)TAG>TAT	p.*800Y	ZNF227_uc010xwu.1_Nonstop_Mutation_p.*749Y|ZNF227_uc002oyv.2_Nonstop_Mutation_p.*800Y|ZNF227_uc010xwv.1_Nonstop_Mutation_p.*749Y|ZNF227_uc010xww.1_Nonstop_Mutation_p.*721Y|ZNF227_uc002oyw.2_Nonstop_Mutation_p.*772Y|ZNF227_uc010ejh.2_Nonstop_Mutation_p.*793Y|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	800					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				AAAAGCTTTAGAAATGAGAAA	0.388													T	44740983	G	T	44740983	4	4	29	1	0	0	0	0	0	0	0	0	17778	937	33	5	2414	5	ZNF227	19	44740983	Nonstop_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	1482422	44740983	14388000	143	33084											
SLC6A16	28968	broad.mit.edu	37	chr19	49814483	49814483	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgaggtccaagatgttgcaGaccgggtcaatgaacccttg	12	10	1	4			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr19:49814483G>T	uc002pmz.2	-	2	356	c.122C>A	c.(121-123)TCT>TAT	p.S41Y	SLC6A16_uc002pna.2_Missense_Mutation_p.S41Y|hsa-mir-4324|MI0015854_5'Flank	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	41	Cytoplasmic (Potential).					integral to membrane|intracellular	neurotransmitter:sodium symporter activity			skin(2)|ovary(1)|kidney(1)	4		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		AGATGTTGCAGACCGGGTCAA	0.547													T	49814483	G	T	49814483	3	4	29	1	0	0	0	0	1	0	0	0	14679	942	33	5	2132	5	SLC6A16	19	49814483	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	5073500	49814483	9314500	144	33085											
TEAD2	8463	broad.mit.edu	37	chr19	49862699	49862699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccattccgagacctgttttCgagttcgggtcttccccgtt	9	13	1	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr19:49862699C>T	uc002pnj.2	-	3	381	c.290G>A	c.(289-291)CGA>CAA	p.R97Q	TEAD2_uc002png.2_Missense_Mutation_p.R97Q|TEAD2_uc002pnh.2_Missense_Mutation_p.R97Q|TEAD2_uc002pni.2_Missense_Mutation_p.R97Q|TEAD2_uc010yao.1_5'UTR|TEAD2_uc010emw.2_Missense_Mutation_p.R97Q	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	97	TEA.				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GACCTGTTTTCGAGTTCGGGT	0.512													T	49862699	C	T	49862699	3	4	29	1	0	0	0	0	1	0	0	0	15736	884	31	1	1093	1	TEAD2	19	49862699	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	48216	49862699	9266284	145	33086											
CNOT3	4849	broad.mit.edu	37	chr19	54656052	54656052	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cctgtgccaacgctgcacctGaccgagcgaggtgagggacc	14	14	0	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr19:54656052G>C	uc002qdj.1	+	14	2006	c.1695G>C	c.(1693-1695)CTG>CTC	p.L565L	CNOT3_uc010yel.1_Silent_p.L565L|CNOT3_uc002qdi.2_Silent_p.L478L|CNOT3_uc002qdk.1_Silent_p.L565L|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_Silent_p.L20L	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	565	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGCTGCACCTGACCGAGCGAG	0.667													C	54656052	G	C	54656052	2	2	29	1	0	0	0	0	0	0	0	1	3620	1277	45	5		5	CNOT3	19	54656052	Silent	SNP	G	TCGA-BR-6454-01A-11D-1800-08	4793353	54656052	4472931	146	33087											
LILRA2	11027	broad.mit.edu	37	chr19	55087526	55087526	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacagctcactcagctccaAcccctacctgctgtctctcc	4	20	3	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr19:55087526A>G	uc002qgg.3	+	6	1294	c.1205A>G	c.(1204-1206)AAC>AGC	p.N402S	LILRA2_uc010ern.2_Missense_Mutation_p.N402S|LILRA2_uc002qgf.2_Missense_Mutation_p.N402S|LILRA2_uc010yfe.1_Missense_Mutation_p.N402S|LILRA2_uc010yff.1_Missense_Mutation_p.N390S|LILRA2_uc010ero.2_Missense_Mutation_p.N390S|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	402	Ig-like C2-type 4.|Extracellular (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		CTCAGCTCCAACCCCTACCTG	0.607													G	55087526	A	G	55087526	3	3	29	1	0	0	0	0	1	0	0	0	8785	43	2	3	1227	3	LILRA2	19	55087526	Missense_Mutation	SNP	A	TCGA-BR-6454-01A-11D-1800-08	431474	55087526	4041457	147	33088											
NLRP5	126206	broad.mit.edu	37	chr19	56569735	56569735	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaatgatgaagctgtgTtcggcctttgcctgtcccac	11	10	0	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr19:56569735T>A	uc002qmj.2	+	14	3429	c.3429T>A	c.(3427-3429)TGT>TGA	p.C1143*	NLRP5_uc002qmi.2_Nonsense_Mutation_p.C1124*	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	1143						mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGAAGCTGTGTTCGGCCTTTG	0.498													A	56569735	T	A	56569735	4	1	29	1	0	0	0	0	0	1	0	0	10480	1731	60	5	3483	5	NLRP5	19	56569735	Nonsense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08	1482209	56569735	2559248	148	33089											
ZNF584	201514	broad.mit.edu	37	chr19	58929139	58929139	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacagggcacatgggaaggtCgttagctgctagcaccgtgt	15	9	0	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr19:58929139C>T	uc002qsp.2	+	4	1706	c.1254C>T	c.(1252-1254)GTC>GTT	p.V418V	ZNF584_uc010yia.1_RNA|ZNF584_uc002qsr.2_Silent_p.V373V|ZNF584_uc010yib.1_3'UTR	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		ATGGGAAGGTCGTTAGCTGCT	0.512													T	58929139	C	T	58929139	2	4	29	1	0	0	0	0	0	0	0	1	18013	871	31	1		1	ZNF584	19	58929139	Silent	SNP	C	TCGA-BR-6454-01A-11D-1800-08	2359404	58929139	199844	149	33090											
KIF16B	55614	broad.mit.edu	37	chr20	16486769	16486769	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcatctgcacgctcacTtccggcaagatcaaccaagt	10	13	3	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr20:16486769T>G	uc002wpg.1	-	8	924	c.766A>C	c.(766-768)AGT>CGT	p.S256R	KIF16B_uc010gch.1_Missense_Mutation_p.S256R|KIF16B_uc010gci.1_Missense_Mutation_p.S256R|KIF16B_uc010gcj.1_Missense_Mutation_p.S256R	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	256	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						GCACGCTCACTTCCGGCAAGA	0.458													G	16486769	T	G	16486769	3	3	29	1	0	0	0	0	1	0	0	0	8278	1609	56	5	3263	5	KIF16B	20	16486769	Missense_Mutation	SNP	T	TCGA-BR-6454-01A-11D-1800-08		16486769	46538751	150	33091											
C20orf12	55184	broad.mit.edu	37	chr20	18429663	18429663	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tccctttgaattctcattatCtccgtgcttgtcaaacactt	4	12	3	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr20:18429663C>G	uc010zsa.1	-	7	860	c.651G>C	c.(649-651)GAG>GAC	p.E217D	C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.E84D|C20orf12_uc002wqq.3_Missense_Mutation_p.E198D|C20orf12_uc002wqu.1_RNA|C20orf12_uc010gct.1_RNA	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	hypothetical protein LOC55184	25						intracellular	zinc ion binding			ovary(1)	1		Myeloproliferative disorder(85;0.0122)				TTCTCATTATCTCCGTGCTTG	0.368													G	18429663	C	G	18429663	3	3	29	1	0	0	0	0	1	0	0	0	2085	912	32	5	1724	5	C20orf12	20	18429663	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	1942894	18429663	44595857	151	33092											
PHF20	51230	broad.mit.edu	37	chr20	34526800	34526800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggccctgcccctgccgCgttctgtggaggaatcctat	11	16	1	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr20:34526800C>T	uc002xek.1	+	16	2593	c.2482C>T	c.(2482-2484)CGT>TGT	p.R828C		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	828					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					GCCCCTGCCGCGTTCTGTGGA	0.602													T	34526800	C	T	34526800	3	4	29	1	0	0	0	0	1	0	0	0	11831	768	27	1	2540	1	PHF20	20	34526800	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	16097137	34526800	28498720	152	33093											
EPB41L1	2036	broad.mit.edu	37	chr20	34778617	34778617	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggtacagtgggaggaccCaggcacagactcgccaggcc	14	14	0	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr20:34778617C>T	uc002xfb.2	+	11	1369	c.1198C>T	c.(1198-1200)CAG>TAG	p.Q400*	EPB41L1_uc002xeu.2_Nonsense_Mutation_p.Q338*|EPB41L1_uc010zvo.1_Nonsense_Mutation_p.Q400*|EPB41L1_uc002xev.2_Nonsense_Mutation_p.Q400*|EPB41L1_uc002xew.2_Nonsense_Mutation_p.Q303*|EPB41L1_uc002xex.2_Nonsense_Mutation_p.Q369*|EPB41L1_uc002xey.2_Nonsense_Mutation_p.Q327*|EPB41L1_uc002xez.2_Nonsense_Mutation_p.Q338*	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	400					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					TGGGAGGACCCAGGCACAGAC	0.637													T	34778617	C	T	34778617	4	4	29	1	0	0	0	0	0	1	0	0	5152	595	21	4	1236	4	EPB41L1	20	34778617	Nonsense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	251817	34778617	28246903	153	33094											
CHD6	84181	broad.mit.edu	37	chr20	40049424	40049424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatttcaaattcatcattctCgaggccatgcatccacctct	5	13	5	0	rs61752058	byFrequency	TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr20:40049424C>T	uc002xka.1	-	31	6029	c.5851G>A	c.(5851-5853)GAG>AAG	p.E1951K		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1951					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TCATCATTCTCGAGGCCATGC	0.502													T	40049424	C	T	40049424	3	4	29	1	0	0	0	0	1	0	0	0	3329	893	31	1	2324	1	CHD6	20	40049424	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	5270807	40049424	22976096	154	33095											
IFT52	51098	broad.mit.edu	37	chr20	42252656	42252656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctgtccatcttccagctGgataccacctccttccacag	6	17	1	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr20:42252656G>A	uc002xkw.2	+	10	1016	c.894G>A	c.(892-894)CTG>CTA	p.L298L	IFT52_uc002xky.2_Silent_p.L298L|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Silent_p.L274L|IFT52_uc002xkz.2_Silent_p.L298L	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog	298						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			ovary(2)	2		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCTTCCAGCTGGATACCACCT	0.532													A	42252656	G	A	42252656	2	1	29	1	0	0	0	0	0	0	0	1	7561	1335	47	4		4	IFT52	20	42252656	Silent	SNP	G	TCGA-BR-6454-01A-11D-1800-08	2203232	42252656	20772864	155	33096											
TOX2	84969	broad.mit.edu	37	chr20	42574562	42574562	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctgattatgcagcagActcgcacagaggctgtcgcg	12	12	1	3			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr20:42574562A>G	uc002xlf.3	+	1	27	c.10A>G	c.(10-12)ACT>GCT	p.T4A	TOX2_uc010ggo.2_Intron|TOX2_uc002xle.3_Intron|TOX2_uc010ggp.2_Intron	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TATGCAGCAGACTCGCACAGA	0.537													G	42574562	A	G	42574562	3	3	29	1	0	0	0	0	1	0	0	0	16375	275	10	3	115	3	TOX2	20	42574562	Missense_Mutation	SNP	A	TCGA-BR-6454-01A-11D-1800-08	321906	42574562	20450958	156	33097											
SLC12A5	57468	broad.mit.edu	37	chr20	44674590	44674590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgcatctgcgagattgGcatcctcattgcatccctcg	9	14	2	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr20:44674590G>A	uc010zxl.1	+	13	1788	c.1712G>A	c.(1711-1713)GGC>GAC	p.G571D	SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.G548D	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	571	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCGAGATTGGCATCCTCATT	0.582													A	44674590	G	A	44674590	3	1	29	1	0	0	0	0	1	0	0	0	14386	1203	42	2	1818	2	SLC12A5	20	44674590	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	2100028	44674590	18350930	157	33098											
ADNP	23394	broad.mit.edu	37	chr20	49509123	49509123	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cttcacaggtgccagacttgGagactgattaagccgagagg	13	9	1	4			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr20:49509123G>C	uc002xvt.1	-	5	2473	c.2128C>G	c.(2128-2130)CCA>GCA	p.P710A	ADNP_uc002xvu.1_Missense_Mutation_p.P710A	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	710						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						GCCAGACTTGGAGACTGATTA	0.463													C	49509123	G	C	49509123	3	2	29	1	0	0	0	0	1	0	0	0	323	1174	41	5	1184	5	ADNP	20	49509123	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	4834533	49509123	13516397	158	33099											
C20orf106	200232	broad.mit.edu	37	chr20	55100041	55100041	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggctggcttgggagcaaAtggctctggcttctttttgt	13	8	2	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr20:55100041A>G	uc002xxx.2	+	1	257	c.177A>G	c.(175-177)AAA>AAG	p.K59K	GCNT7_uc010zzg.1_Intron|C20orf107_uc010zzh.1_Silent_p.K59K	NM_001012971	NP_001012989	Q5JX71	CT106_HUMAN	hypothetical protein LOC200232 precursor	59	Helical; (Potential).					integral to membrane					0			Colorectal(105;0.202)			TTGGGAGCAAATGGCTCTGGC	0.483													G	55100041	A	G	55100041	2	3	29	1	0	0	0	0	0	0	0	1	2076	98	4	3		3	C20orf106	20	55100041	Silent	SNP	A	TCGA-BR-6454-01A-11D-1800-08	5590918	55100041	7925479	159	33100											
SLC17A9	63910	broad.mit.edu	37	chr20	61588204	61588204	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agcatgcccatctgcaccgtCtccatgagccaggacttcgg	10	15	2	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr20:61588204C>G	uc002yea.3	+	2	331	c.147C>G	c.(145-147)GTC>GTG	p.V49V	SLC17A9_uc002ydz.3_Silent_p.V43V|SLC17A9_uc011aap.1_Silent_p.V69V	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	vesicular nucleotide transporter SLC17A9	49					exocytosis|transmembrane transport	integral to membrane	transporter activity			ovary(1)|skin(1)	2						TCTGCACCGTCTCCATGAGCC	0.647													G	61588204	C	G	61588204	2	3	29	1	0	0	0	0	0	0	0	1	14424	900	32	5		5	SLC17A9	20	61588204	Silent	SNP	C	TCGA-BR-6454-01A-11D-1800-08	6488163	61588204	1437316	160	33101											
KRTAP13-2	337959	broad.mit.edu	37	chr21	31744376	31744376	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atctcctgacagcccctataGagagaggaacccagctggca	10	13	1	3			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr21:31744376G>A	uc002ynz.3	-	1	182	c.156C>T	c.(154-156)CTC>CTT	p.L52L		NM_181621	NP_853652	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	52	1.|5 X 10 AA approximate repeats.					intermediate filament					0						AGCCCCTATAGAGAGAGGAAC	0.612													A	31744376	G	A	31744376	2	1	29	1	0	0	0	0	0	0	0	1	8523	929	33	4		4	KRTAP13-2	21	31744376	Silent	SNP	G	TCGA-BR-6454-01A-11D-1800-08		31744376	16385519	161	33102											
KRTAP19-7	337974	broad.mit.edu	37	chr21	31933515	31933515	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccatagcccagtctgcggaAgctgccacatccacagctat	9	15	1	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr21:31933515A>C	uc011adb.1	-	1	94	c.94T>G	c.(94-96)TTC>GTC	p.F32V		NM_181614	NP_853645	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	32						intermediate filament					0						AGTCTGCGGAAGCTGCCACAT	0.547													C	31933515	A	C	31933515	3	2	29	1	0	0	0	0	1	0	0	0	8534	72	3	5	100	5	KRTAP19-7	21	31933515	Missense_Mutation	SNP	A	TCGA-BR-6454-01A-11D-1800-08	189139	31933515	16196380	162	33103											
DYRK1A	1859	broad.mit.edu	37	chr21	38845158	38845158	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gccttatcatattctgaccaGattcagcaacctctaactaa	4	12	4	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr21:38845158G>C	uc002ywk.2	+	2	258	c.183G>C	c.(181-183)CAG>CAC	p.Q61H	DYRK1A_uc002ywg.1_RNA|DYRK1A_uc010gno.1_RNA|DYRK1A_uc002ywh.1_Missense_Mutation_p.Q32H|DYRK1A_uc002ywi.2_Missense_Mutation_p.Q61H|DYRK1A_uc002ywj.2_Missense_Mutation_p.Q61H|DYRK1A_uc002ywl.2_Missense_Mutation_p.Q61H|DYRK1A_uc002ywm.2_Missense_Mutation_p.Q61H	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	61					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			ovary(2)|lung(1)|breast(1)	4						ATTCTGACCAGATTCAGCAAC	0.423													C	38845158	G	C	38845158	3	2	29	1	0	0	0	0	1	0	0	0	4854	933	33	5	189	5	DYRK1A	21	38845158	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	6911643	38845158	9284737	163	33104											
MX1	4599	broad.mit.edu	37	chr21	42821220	42821220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatatgctacacaccgtgaCgggtgagtgctcagtttcac	12	10	2	2			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr21:42821220C>T	uc002yzh.2	+	16	2377	c.1430C>T	c.(1429-1431)ACG>ATG	p.T477M	MX1_uc002yzi.2_Missense_Mutation_p.T477M|MX1_uc010goq.2_Missense_Mutation_p.T477M	NM_001144925	NP_001138397	P20591	MX1_HUMAN	myxovirus resistance protein 1	477					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CACACCGTGACGGGTGAGTGC	0.463													T	42821220	C	T	42821220	3	4	29	1	0	0	0	0	1	0	0	0	9997	536	19	1	1468	1	MX1	21	42821220	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	3976062	42821220	5308675	164	33105											
MYH9	4627	broad.mit.edu	37	chr22	36681783	36681783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctcctcctccagctggGcgatgcgggcctccagacgc	12	18	0	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr22:36681783G>A	uc003apg.2	-	37	5426	c.5195C>T	c.(5194-5196)GCC>GTC	p.A1732V		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1732	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						ctccagctGGGCGATGCGGGC	0.587			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				A	36681783	G	A	36681783	3	1	29	1	0	0	0	0	1	0	0	0	10042	1203	42	2	707	2	MYH9	22	36681783	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08		36681783	14622783	165	33106											
BAIAP2L2	80115	broad.mit.edu	37	chr22	38482283	38482283	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caactgctgtgctgcccatgCtgctgcggcggctgctgggc	15	14	0	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr22:38482283C>G	uc003auw.2	-	12	1577	c.1433G>C	c.(1432-1434)AGC>ACC	p.S478T	BAIAP2L2_uc003auv.2_RNA	NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	478					filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			pancreas(1)	1	Melanoma(58;0.045)					GCTGCCCATGCTGCTGCGGCG	0.706													G	38482283	C	G	38482283	3	3	29	1	0	0	0	0	1	0	0	0	1303	797	28	5	168	5	BAIAP2L2	22	38482283	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	1800500	38482283	12822283	166	33107											
FAM83F	113828	broad.mit.edu	37	chr22	40417550	40417550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgatgcgctgggctgccCggcaacagcgggaggcgggc	19	11	0	2	rs145428025		TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chr22:40417550C>T	uc003ayk.1	+	4	1130	c.1036C>T	c.(1036-1038)CGG>TGG	p.R346W		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	346										breast(1)	1						CTGGGCTGCCCGGCAACAGCG	0.677													T	40417550	C	T	40417550	3	4	29	1	0	0	0	0	1	0	0	0	5638	643	23	1	1050	1	FAM83F	22	40417550	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	1935267	40417550	10887016	167	33108											
MXRA5	25878	broad.mit.edu	37	chrX	3227890	3227890	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gggggtgaagaaatctgtttCcatacagacgagcctgaacc	12	9	1	4			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chrX:3227890C>A	uc004crg.3	-	7	8511	c.8354G>T	c.(8353-8355)GGA>GTA	p.G2785V		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2785	Ig-like C2-type 12.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAATCTGTTTCCATACAGACG	0.512													A	3227890	C	A	3227890	3	1	29	1	0	0	0	0	1	0	0	0	10003	855	30	5	136	5	MXRA5	23	3227890	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08		3227890	152042670	168	33109											
ARAF	369	broad.mit.edu	37	chrX	47422726	47422726	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtggtctaccgactcatcaaGgggtgagtgtggcagcccca	14	11	3	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chrX:47422726G>C	uc011mlq.1	+	3	331	c.198G>C	c.(196-198)AAG>AAC	p.K66N	ARAF_uc011mln.1_RNA|ARAF_uc011mlo.1_5'UTR|ARAF_uc011mlp.1_Missense_Mutation_p.K66N|ARAF_uc004dic.1_5'Flank	NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	66	RBD.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	GACTCATCAAGGGGTGAGTGT	0.557													C	47422726	G	C	47422726	3	2	29	1	0	0	0	0	1	0	0	0	837	991	35	5	204	5	ARAF	23	47422726	Missense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	44194836	47422726	107847834	169	33110											
PHF8	23133	broad.mit.edu	37	chrX	54014281	54014281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaatccaagtcaaattcGtcttccatcacctgttctgc	5	13	5	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chrX:54014281G>A	uc004dsu.2	-	15	2008	c.1935C>T	c.(1933-1935)GAC>GAT	p.D645D	PHF8_uc004dst.2_Silent_p.D609D|PHF8_uc004dsv.2_Silent_p.D475D|PHF8_uc004dsw.2_Silent_p.D508D|PHF8_uc004dsx.2_Silent_p.D373D|PHF8_uc004dsy.2_Silent_p.D609D	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	645					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						AGTCAAATTCGTCTTCCATCA	0.453													A	54014281	G	A	54014281	2	1	29	1	0	0	0	0	0	0	0	1	11840	1136	40	1		1	PHF8	23	54014281	Silent	SNP	G	TCGA-BR-6454-01A-11D-1800-08	6591555	54014281	101256279	170	33111											
AR	367	broad.mit.edu	37	chrX	66765698	66765698	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccatttctgacaacgccaAggagttgtgtaaggcagtgt	12	8	1	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chrX:66765698A>G	uc004dwu.1	+	1	1825	c.710A>G	c.(709-711)AAG>AGG	p.K237R	AR_uc011mpd.1_Missense_Mutation_p.K237R|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.K237R	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	235	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GACAACGCCAAGGAGTTGTGT	0.607									Androgen_Insensitivity_Syndrome				G	66765698	A	G	66765698	3	3	29	1	0	0	0	0	1	0	0	0	836	72	3	3	712	3	AR	23	66765698	Missense_Mutation	SNP	A	TCGA-BR-6454-01A-11D-1800-08	12751417	66765698	88504862	171	33112											
P2RY10	27334	broad.mit.edu	37	chrX	78216896	78216896	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccctttttgcctgtgcctTgcaagtctctgctgcctttt	7	14	1	0			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chrX:78216896T>A	uc004ede.2	+	4	1248	c.879T>A	c.(877-879)CTT>CTA	p.L293L	P2RY10_uc004edf.2_Silent_p.L293L	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	293	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5						GCCTGTGCCTTGCAAGTCTCT	0.443													A	78216896	T	A	78216896	2	1	29	1	0	0	0	0	0	0	0	1	11347	1799	63	5		5	P2RY10	23	78216896	Silent	SNP	T	TCGA-BR-6454-01A-11D-1800-08	11451198	78216896	77053664	172	33113											
MCART6	401612	broad.mit.edu	37	chrX	103349893	103349893	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctggagcctctgctcgCgtcctgtgctgaagctcctt	10	14	1	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chrX:103349893C>T	uc004elu.2	-	2	229	c.48G>A	c.(46-48)ACG>ACA	p.T16T		NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN	mitochondrial carrier triple repeat 6	16					transport	integral to membrane|mitochondrial inner membrane					0						CCTCTGCTCGCGTCCTGTGCT	0.517													T	103349893	C	T	103349893	2	4	29	1	0	0	0	0	0	0	0	1	9371	755	27	1		1	MCART6	23	103349893	Silent	SNP	C	TCGA-BR-6454-01A-11D-1800-08	25132997	103349893	51920667	173	33114											
ACTRT1	139741	broad.mit.edu	37	chrX	127185859	127185859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaggattcaaagagggctcGgtcataagtacaggctgttg	13	7	2	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chrX:127185859G>A	uc004eum.2	-	1	524	c.327C>T	c.(325-327)ACC>ACT	p.T109T		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	109						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)|skin(1)	5						AAGAGGGCTCGGTCATAAGTA	0.478													A	127185859	G	A	127185859	2	1	29	1	0	0	0	0	0	0	0	1	218	1103	39	1		1	ACTRT1	23	127185859	Silent	SNP	G	TCGA-BR-6454-01A-11D-1800-08	23835966	127185859	28084701	174	33115											
GPR50	9248	broad.mit.edu	37	chrX	150349052	150349052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtgagatgcaggaggccCgtaccctggcccgcgcccgt	14	15	0	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chrX:150349052C>T	uc010ntg.1	+	2	1132	c.997C>T	c.(997-999)CGT>TGT	p.R333C	uc004fes.1_5'Flank|GPR50_uc011myc.1_3'UTR	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	333	Cytoplasmic (Potential).|Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGAGGCCCGTACCCTGGC	0.567													T	150349052	C	T	150349052	3	4	29	1	0	0	0	0	1	0	0	0	6697	652	23	1	1003	1	GPR50	23	150349052	Missense_Mutation	SNP	C	TCGA-BR-6454-01A-11D-1800-08	23163193	150349052	4921508	175	33116											
F8	2157	broad.mit.edu	37	chrX	154176146	154176146	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccacctcatgcaaacaaactGacaactgcaaactatcaaaa	3	13	2	1			TCGA-BR-6454-01A-11D-1800-08	TCGA-BR-6454-11A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5	02a6d96b-8aee-4512-8454-f01a984641b0	g.chrX:154176146G>T	uc004fmt.2	-	13	2111	c.1940C>A	c.(1939-1941)TCA>TAA	p.S647*		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	647	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CAAACAAACTGACAACTGCAA	0.378													T	154176146	G	T	154176146	4	4	29	1	0	0	0	0	0	1	0	0	5350	1294	45	5	5199	5	F8	23	154176146	Nonsense_Mutation	SNP	G	TCGA-BR-6454-01A-11D-1800-08	3827094	154176146	1094414	176	33117											
VWA1	64856	broad.mit.edu	37	chr1	1372328	1372328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaccagcatcagccccccGaggggacctgatgttcctgc	10	17	1	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr1:1372328G>A	uc001afs.2	+	2	315	c.95G>A	c.(94-96)CGA>CAA	p.R32Q	VWA1_uc001afr.2_Intron	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	32						basement membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCAGCCCCCCGAGGGGACCTG	0.667													A	1372328	G	A	1372328	3	1	30	1	0	0	0	0	1	0	0	0	17235	1058	37	1	101	1	VWA1	1	1372328	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08		1372328	247878293	1	33118											
ARID1A	8289	broad.mit.edu	37	chr1	27107162	27107162	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tactctgtacgaatcacggcTgttggacatctcggtatcac	9	11	4	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr1:27107162T>G	uc001bmv.1	+	20	7146	c.6773T>G	c.(6772-6774)CTG>CGG	p.L2258R	ARID1A_uc001bmu.1_Missense_Mutation_p.L2041R|ARID1A_uc001bmx.1_Missense_Mutation_p.L1104R|ARID1A_uc009vsm.1_Missense_Mutation_p.L586R|ARID1A_uc009vsn.1_Missense_Mutation_p.L500R	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2258					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GAATCACGGCTGTTGGACATC	0.527			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								G	27107162	T	G	27107162	3	3	30	1	0	0	0	0	1	0	0	0	913	1580	55	5	6851	5	ARID1A	1	27107162	Missense_Mutation	SNP	T	TCGA-BR-6455-01A-11D-1800-08	25734834	27107162	222143459	2	33119											
YRDC	79693	broad.mit.edu	37	chr1	38272879	38272879	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccctcaggtactctcacaCggcagtatctgggaaacaca	9	14	3	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr1:38272879C>A	uc001cca.1	-	2	411	c.398G>T	c.(397-399)CGT>CTT	p.R133L	C1orf122_uc001ccb.1_5'UTR	NM_024640	NP_078916	Q86U90	YRDC_HUMAN	ischemia/reperfusion inducible protein	133	YrdC-like.				negative regulation of transport	membrane|mitochondrion					0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TACTCTCACACGGCAGTATCT	0.418													A	38272879	C	A	38272879	3	1	30	1	0	0	0	0	1	0	0	0	17491	536	19	5	457	5	YRDC	1	38272879	Missense_Mutation	SNP	C	TCGA-BR-6455-01A-11D-1800-08	11165717	38272879	210977742	3	33120											
PTGER3	5733	broad.mit.edu	37	chr1	71478123	71478123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctccgtgtgtgtcttgcaGtgctcaactgatgtctgatt	10	9	4	2			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr1:71478123G>A	uc001dfg.1	-	2	1173	c.942C>T	c.(940-942)CAC>CAT	p.H314H	PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Silent_p.H314H|PTGER3_uc001dfl.1_Silent_p.H314H|PTGER3_uc009wbm.1_Silent_p.H314H|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Silent_p.H314H|PTGER3_uc009wbn.1_Silent_p.H314H|PTGER3_uc009wbo.2_Silent_p.H314H|PTGER3_uc001dfo.2_Silent_p.H314H|PTGER3_uc001dfp.1_Silent_p.H314H|PTGER3_uc001dfq.2_Silent_p.H314H	NM_198714	NP_942007	P43115	PE2R3_HUMAN	prostaglandin E receptor 3, subtype EP3 isoform	314	Extracellular (Potential).				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			pancreas(1)|lung(1)|skin(1)	3					Bimatoprost(DB00905)	GTGTCTTGCAGTGCTCAACTG	0.368													A	71478123	G	A	71478123	2	1	30	1	0	0	0	0	0	0	0	1	12744	1020	36	4		4	PTGER3	1	71478123	Silent	SNP	G	TCGA-BR-6455-01A-11D-1800-08	33205244	71478123	177772498	4	33121											
EPHX4	253152	broad.mit.edu	37	chr1	92508453	92508453	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactggatttgagaggttatGgagaaacagatgctcccatt	11	7	0	3			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr1:92508453G>T	uc001don.2	+	3	495	c.391G>T	c.(391-393)GGA>TGA	p.G131*		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	abhydrolase domain containing 7	131						integral to membrane	hydrolase activity			central_nervous_system(1)	1						GAGAGGTTATGGAGAAACAGA	0.333													T	92508453	G	T	92508453	4	4	30	1	0	0	0	0	0	1	0	0	5182	1349	47	5	401	5	EPHX4	1	92508453	Nonsense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	21030330	92508453	156742168	5	33122											
NRAS	4893	broad.mit.edu	37	chr1	115258748	115258748	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcttttcccaacaccacCtgctccaaccaccaccagtt	4	19	0	0	rs121913250		TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr1:115258748C>A	uc009wgu.2	-	2	288	c.34G>T	c.(34-36)GGT>TGT	p.G12C		NM_002524	NP_002515	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	12	GTP.		G -> C (in leukemia).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.G12D(333)|p.G12S(118)|p.G12C(71)|p.G12V(54)|p.G12A(36)|p.G12R(16)|p.G12G(4)|p.G12N(1)|p.G12T(1)|p.G12P(1)|p.G12Y(1)		haematopoietic_and_lymphoid_tissue(1008)|skin(956)|thyroid(334)|large_intestine(62)|NS(60)|soft_tissue(32)|lung(31)|upper_aerodigestive_tract(25)|urinary_tract(12)|liver(10)|adrenal_gland(9)|autonomic_ganglia(8)|testis(8)|central_nervous_system(8)|prostate(8)|breast(7)|biliary_tract(6)|ovary(6)|stomach(5)|pancreas(5)|endometrium(2)|kidney(2)|cervix(2)|eye(1)	2607	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAACACCACCTGCTCCAACC	0.493	G12C(P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		melanoma|MM|AML|thyroid				Noonan_syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			A	115258748	C	A	115258748	3	1	30	1	0	0	0	0	1	0	0	0	10640	681	24	5	551	5	NRAS	1	115258748	Missense_Mutation	SNP	C	TCGA-BR-6455-01A-11D-1800-08	22750295	115258748	133991873	6	33123											
PDE4DIP	9659	broad.mit.edu	37	chr1	144916601	144916601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcctatcatgaagagacGtctgtaactgctgaatgata	9	7	2	4	rs146793096	by1000genomes	TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr1:144916601G>A	uc001elw.3	-	13	2045	c.1754C>T	c.(1753-1755)ACG>ATG	p.T585M	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.T651M|PDE4DIP_uc001emc.1_Missense_Mutation_p.T585M|PDE4DIP_uc001emd.1_Missense_Mutation_p.T585M|PDE4DIP_uc001emb.1_Missense_Mutation_p.T748M|PDE4DIP_uc001eme.1_Missense_Mutation_p.T114M|PDE4DIP_uc001emf.1_Missense_Mutation_p.T372M	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	585	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGAAGAGACGTCTGTAACTG	0.418			T	PDGFRB	MPD								A	144916601	G	A	144916601	3	1	30	1	0	0	0	0	1	0	0	0	11643	1145	40	1	5424	1	PDE4DIP	1	144916601	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	29657853	144916601	104334020	7	33124											
POGZ	23126	broad.mit.edu	37	chr1	151396574	151396574	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttggtctggacggcatcGcccacgttctcatttggttc	11	11	2	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr1:151396574G>A	uc001eyd.1	-	9	1680	c.1374C>T	c.(1372-1374)GGC>GGT	p.G458G	POGZ_uc001eye.1_Silent_p.G405G|POGZ_uc010pdb.1_Silent_p.G449G|POGZ_uc001eyf.1_Silent_p.G405G|POGZ_uc010pdc.1_Silent_p.G396G|POGZ_uc009wmv.1_Silent_p.G363G|POGZ_uc010pdd.1_Intron	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	458					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGACGGCATCGCCCACGTTCT	0.507													A	151396574	G	A	151396574	2	1	30	1	0	0	0	0	0	0	0	1	12186	1074	38	1		1	POGZ	1	151396574	Silent	SNP	G	TCGA-BR-6455-01A-11D-1800-08	6479973	151396574	97854047	8	33125											
TCHH	7062	broad.mit.edu	37	chr1	152080964	152080964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaacggaattttctgtcacGctcttggcggctcagctgct	10	11	4	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr1:152080964G>A	uc001ezp.2	-	2	4729	c.4729C>T	c.(4729-4731)CGT>TGT	p.R1577C	TCHH_uc009wne.1_Missense_Mutation_p.R1577C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1577	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCTGTCACGCTCTTGGCGG	0.597													A	152080964	G	A	152080964	3	1	30	1	0	0	0	0	1	0	0	0	15697	1087	38	1	1106	1	TCHH	1	152080964	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	684390	152080964	97169657	9	33126											
SLC9A11	284525	broad.mit.edu	37	chr1	173567077	173567077	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgagtgtataaaattctAcatccaaagcaaccataaat	4	8	2	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr1:173567077A>G	uc001giz.2	-	4	746	c.323T>C	c.(322-324)GTA>GCA	p.V108A	SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	108	Helical; (Potential).				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						ATAAAATTCTACATCCAAAGC	0.318													G	173567077	A	G	173567077	3	3	30	1	0	0	0	0	1	0	0	0	14711	391	14	3	3151	3	SLC9A11	1	173567077	Missense_Mutation	SNP	A	TCGA-BR-6455-01A-11D-1800-08	21486113	173567077	75683544	10	33127											
ADORA1	134	broad.mit.edu	37	chr1	203134919	203134919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccattgtctatgccttccGcatccagaagttccgcgtca	7	16	2	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr1:203134919G>A	uc001gze.1	+	4	1305	c.872G>A	c.(871-873)CGC>CAC	p.R291H	FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Missense_Mutation_p.R291H|ADORA1_uc010pqg.1_Missense_Mutation_p.R223H|ADORA1_uc009xak.1_Silent_p.P216P|ADORA1_uc010pqh.1_Missense_Mutation_p.R324H	NM_000674	NP_000665	P30542	AA1R_HUMAN	adenosine A1 receptor	291	Helical; Name=7; (Potential).				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				large_intestine(1)	1					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TATGCCTTCCGCATCCAGAAG	0.557													A	203134919	G	A	203134919	3	1	30	1	0	0	0	0	1	0	0	0	326	1087	38	1	878	1	ADORA1	1	203134919	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	29567842	203134919	46115702	11	33128											
OBSCN	84033	broad.mit.edu	37	chr1	228524806	228524806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcccagatcactgagatgGtatcggccaagatcacgcag	10	13	2	3			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr1:228524806G>A	uc009xez.1	+	65	16683	c.16639G>A	c.(16639-16641)GTA>ATA	p.V5547I	OBSCN_uc001hsn.2_Missense_Mutation_p.V5547I|OBSCN_uc001hsr.1_Missense_Mutation_p.V175I	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5547					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CACTGAGATGGTATCGGCCAA	0.642													A	228524806	G	A	228524806	3	1	30	1	0	0	0	0	1	0	0	0	10812	1261	44	4	16893	4	OBSCN	1	228524806	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	25389887	228524806	20725815	12	33129											
RYR2	6262	broad.mit.edu	37	chr1	237801713	237801713	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagatgctggtgtctaaGggctatccagacattgggtg	14	8	1	2			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr1:237801713G>A	uc001hyl.1	+	45	6969	c.6849G>A	c.(6847-6849)AAG>AAA	p.K2283K		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2283	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGTGTCTAAGGGCTATCCAG	0.428													A	237801713	G	A	237801713	2	1	30	1	0	0	0	0	0	0	0	1	13769	991	35	4		4	RYR2	1	237801713	Silent	SNP	G	TCGA-BR-6455-01A-11D-1800-08	9276907	237801713	11448908	13	33130											
PXDN	7837	broad.mit.edu	37	chr2	1653281	1653281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaaggcggtcagcgaggcGccccacatggggtgctgcag	17	12	1	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr2:1653281G>A	uc002qxa.2	-	17	2335	c.2271C>T	c.(2269-2271)GGC>GGT	p.G757G		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	757					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCAGCGAGGCGCCCCACATGG	0.637													A	1653281	G	A	1653281	2	1	30	1	0	0	0	0	0	0	0	1	12847	1074	38	1		1	PXDN	2	1653281	Silent	SNP	G	TCGA-BR-6455-01A-11D-1800-08		1653281	241546092	14	33131											
GREB1	9687	broad.mit.edu	37	chr2	11750964	11750964	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagaacctcctcaactccccGaagcagtgcccctgcggcca	8	19	1	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr2:11750964G>A	uc002rbk.1	+	18	3117	c.2817G>A	c.(2815-2817)CCG>CCA	p.P939P	GREB1_uc002rbo.1_Silent_p.P573P|GREB1_uc002rbp.1_5'Flank	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	939						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCAACTCCCCGAAGCAGTGCC	0.687													A	11750964	G	A	11750964	2	1	30	1	0	0	0	0	0	0	0	1	6760	1045	37	1		1	GREB1	2	11750964	Silent	SNP	G	TCGA-BR-6455-01A-11D-1800-08	10097683	11750964	231448409	15	33132											
ACTG2	72	broad.mit.edu	37	chr2	74143812	74143812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacaatgtcctctctgggGgcaccaccatgtaccctggc	9	16	1	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr2:74143812G>A	uc002sjw.2	+	8	1029	c.907G>A	c.(907-909)GGC>AGC	p.G303S	ACTG2_uc010fey.2_Missense_Mutation_p.G303S|ACTG2_uc010yrn.1_Missense_Mutation_p.G260S	NM_001615	NP_001606	P63267	ACTH_HUMAN	actin, gamma 2 propeptide	303					muscle contraction	cytoskeleton|cytosol	ATP binding				0						CCTCTCTGGGGGCACCACCAT	0.512													A	74143812	G	A	74143812	3	1	30	1	0	0	0	0	1	0	0	0	197	1232	43	4	933	4	ACTG2	2	74143812	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	62392848	74143812	169055561	16	33133											
CTNNA2	1496	broad.mit.edu	37	chr2	79878715	79878715	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acttcacctatcattctgaaAtgggaccccaaaagtttgga	7	10	3	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr2:79878715A>T	uc010ysh.1	+	1	38	c.33A>T	c.(31-33)AAA>AAT	p.K11N	CTNNA2_uc010yse.1_Missense_Mutation_p.K11N|CTNNA2_uc010ysf.1_Missense_Mutation_p.K11N|CTNNA2_uc010ysg.1_Missense_Mutation_p.K11N|hsa-mir-4264|MI0015877_5'Flank	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	11					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						TCATTCTGAAATGGGACCCCA	0.403													T	79878715	A	T	79878715	3	4	30	1	0	0	0	0	1	0	0	0	4013	98	4	5	35	5	CTNNA2	2	79878715	Missense_Mutation	SNP	A	TCGA-BR-6455-01A-11D-1800-08	5734903	79878715	163320658	17	33134											
PSD4	23550	broad.mit.edu	37	chr2	113940394	113940394	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacacctggggagcccctctGcccagagggagcacaggcag	14	15	1	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr2:113940394G>T	uc002tjc.2	+	2	544	c.361G>T	c.(361-363)GCC>TCC	p.A121S	PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Missense_Mutation_p.A120S|PSD4_uc002tjf.2_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	121					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						GAGCCCCTCTGCCCAGAGGGA	0.627													T	113940394	G	T	113940394	3	4	30	1	0	0	0	0	1	0	0	0	12649	1319	46	5	363	5	PSD4	2	113940394	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	34061679	113940394	129258979	18	33135											
WDSUB1	151525	broad.mit.edu	37	chr2	160132102	160132102	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccaaattttgacttggcaatCctgaccacatgatgccagtc	7	12	0	3			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr2:160132102C>A	uc002uaj.3	-	4	780	c.631G>T	c.(631-633)GAT>TAT	p.D211Y	WDSUB1_uc002uak.3_Missense_Mutation_p.D211Y|WDSUB1_uc002ual.3_Missense_Mutation_p.D211Y|WDSUB1_uc002uam.3_Missense_Mutation_p.D211Y|WDSUB1_uc010foo.2_Missense_Mutation_p.D211Y	NM_152528	NP_689741	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain	211	WD 5.					ubiquitin ligase complex	ubiquitin-protein ligase activity				0						ACTTGGCAATCCTGACCACAT	0.333													A	160132102	C	A	160132102	3	1	30	1	0	0	0	0	1	0	0	0	17338	855	30	5	831	5	WDSUB1	2	160132102	Missense_Mutation	SNP	C	TCGA-BR-6455-01A-11D-1800-08	46191708	160132102	83067271	19	33136											
MYO3B	140469	broad.mit.edu	37	chr2	171371472	171371472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggccacattcccccgtcGcagcaggtacgaggggaagt	15	12	0	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr2:171371472G>A	uc002ufy.2	+	29	3555	c.3412G>A	c.(3412-3414)GCA>ACA	p.A1138T	MYO3B_uc002ufv.2_Missense_Mutation_p.A1125T|MYO3B_uc010fqb.1_Missense_Mutation_p.A1125T|MYO3B_uc002ufz.2_Missense_Mutation_p.A1111T|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	1138					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						TTCCCCCGTCGCAGCAGGTAC	0.478													A	171371472	G	A	171371472	3	1	30	1	0	0	0	0	1	0	0	0	10077	1087	38	1	3526	1	MYO3B	2	171371472	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	11239370	171371472	71827901	20	33137											
TTN	7273	broad.mit.edu	37	chr2	179454415	179454415	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagacaaatgtctttcctttAtctgcaatgtgaaggttttc	7	7	2	2			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr2:179454415A>T	uc010zfg.1	-	253	54557	c.54333T>A	c.(54331-54333)GAT>GAA	p.D18111E	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D11806E|TTN_uc010zfi.1_Missense_Mutation_p.D11739E|TTN_uc010zfj.1_Missense_Mutation_p.D11614E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19038							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTCCTTTATCTGCAATGT	0.448													T	179454415	A	T	179454415	3	4	30	1	0	0	0	0	1	0	0	0	16732	446	16	5	46178	5	TTN	2	179454415	Missense_Mutation	SNP	A	TCGA-BR-6455-01A-11D-1800-08	8082943	179454415	63744958	21	33138											
ZDBF2	57683	broad.mit.edu	37	chr2	207172945	207172945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggatgaagaagttgacacGgaagataggagaaatgaagc	14	3	0	6			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr2:207172945G>A	uc002vbp.2	+	5	3943	c.3693G>A	c.(3691-3693)ACG>ACA	p.T1231T		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1231							nucleic acid binding|zinc ion binding			ovary(3)	3						AAGTTGACACGGAAGATAGGA	0.423													A	207172945	G	A	207172945	2	1	30	1	0	0	0	0	0	0	0	1	17596	1103	39	1		1	ZDBF2	2	207172945	Silent	SNP	G	TCGA-BR-6455-01A-11D-1800-08	27718530	207172945	36026428	22	33139											
C2orf57	165100	broad.mit.edu	37	chr2	232458738	232458738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccctgcgcaccatcacccGtgtgctggagacagtggagc	13	14	1	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr2:232458738G>A	uc002vrz.2	+	1	1127	c.1076G>A	c.(1075-1077)CGT>CAT	p.R359H		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	hypothetical protein LOC165100	359										ovary(1)	1		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		ACCATCACCCGTGTGCTGGAG	0.687													A	232458738	G	A	232458738	3	1	30	1	0	0	0	0	1	0	0	0	2178	1145	40	1	1078	1	C2orf57	2	232458738	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	25285793	232458738	10740635	23	33140											
GPR35	2859	broad.mit.edu	37	chr2	241569891	241569891	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaatttcaactccatggcGttcccgctgctgggattcta	8	13	2	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr2:241569891G>A	uc002vzs.1	+	1	1097	c.522G>A	c.(520-522)GCG>GCA	p.A174A	GPR35_uc010fzh.1_Silent_p.A205A|GPR35_uc010fzi.1_Silent_p.A205A	NM_005301	NP_005292	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	174	Extracellular (Potential).			A -> R (in Ref. 1; AAC52028).		integral to plasma membrane	G-protein coupled receptor activity			skin(2)|pancreas(1)	3		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		ACTCCATGGCGTTCCCGCTGC	0.662													A	241569891	G	A	241569891	2	1	30	1	0	0	0	0	0	0	0	1	6690	1132	40	1		1	GPR35	2	241569891	Silent	SNP	G	TCGA-BR-6455-01A-11D-1800-08	9111153	241569891	1629482	24	33141											
GOLGA4	2803	broad.mit.edu	37	chr3	37365781	37365781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcatctgctaagctggacGtttttcagtcttaccagagt	10	9	3	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr3:37365781G>A	uc003cgv.2	+	14	2708	c.2404G>A	c.(2404-2406)GTT>ATT	p.V802I	GOLGA4_uc010hgr.1_Missense_Mutation_p.V363I|GOLGA4_uc003cgw.2_Missense_Mutation_p.V824I|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.V683I	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	802	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						TAAGCTGGACGTTTTTCAGTC	0.443													A	37365781	G	A	37365781	3	1	30	1	0	0	0	0	1	0	0	0	6555	1145	40	1	2528	1	GOLGA4	3	37365781	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08		37365781	160656649	25	33142											
SLC38A3	10991	broad.mit.edu	37	chr3	50254855	50254855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccactttgcaggctacctgGgctactccagcggcttctct	9	15	1	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr3:50254855G>A	uc003cyn.3	+	9	781	c.640G>A	c.(640-642)GGC>AGC	p.G214S	SLC38A3_uc011bdl.1_Missense_Mutation_p.G189S|SLC38A3_uc011bdm.1_Missense_Mutation_p.G145S	NM_006841	NP_006832	Q99624	S38A3_HUMAN	solute carrier family 38, member 3	214	Helical; (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	AGGCTACCTGGGCTACTCCAG	0.592													A	50254855	G	A	50254855	3	1	30	1	0	0	0	0	1	0	0	0	14605	1232	43	4	670	4	SLC38A3	3	50254855	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	12889074	50254855	147767575	26	33143											
DNAH1	25981	broad.mit.edu	37	chr3	52380535	52380535	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagctcgctaaaggtggcCatgcgcagcagcctgcgcga	13	13	1	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr3:52380535C>T	uc011bef.1	+	11	1965	c.1704C>T	c.(1702-1704)GCC>GCT	p.A568A	DNAH1_uc003ddt.1_Silent_p.A568A	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	568	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TAAAGGTGGCCATGCGCAGCA	0.582													T	52380535	C	T	52380535	2	4	30	1	0	0	0	0	0	0	0	1	4597	581	21	4		4	DNAH1	3	52380535	Silent	SNP	C	TCGA-BR-6455-01A-11D-1800-08	2125680	52380535	145641895	27	33144											
DNAH1	25981	broad.mit.edu	37	chr3	52417495	52417495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggacgagcaggaccagatcGtcagcaccatgcggccctat	12	14	1	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr3:52417495G>A	uc011bef.1	+	51	8296	c.8035G>A	c.(8035-8037)GTC>ATC	p.V2679I	DNAH1_uc003ddv.2_5'Flank	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2679	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGACCAGATCGTCAGCACCAT	0.542													A	52417495	G	A	52417495	3	1	30	1	0	0	0	0	1	0	0	0	4597	1145	40	1	8233	1	DNAH1	3	52417495	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	36960	52417495	145604935	28	33145											
DNAH1	25981	broad.mit.edu	37	chr3	52426895	52426895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggacatcgacctgacgcGcatggagtacatacccgtgg	13	11	0	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr3:52426895G>A	uc011bef.1	+	65	10589	c.10328G>A	c.(10327-10329)CGC>CAC	p.R3443H	DNAH1_uc003ddv.2_Missense_Mutation_p.R301H	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3508					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACCTGACGCGCATGGAGTAC	0.592													A	52426895	G	A	52426895	3	1	30	1	0	0	0	0	1	0	0	0	4597	1087	38	1	10582	1	DNAH1	3	52426895	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	9400	52426895	145595535	29	33146											
NCK1	4690	broad.mit.edu	37	chr3	136664893	136664893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacccagagtggtggaaatGcaggaagatcaatggtatgg	15	5	1	3			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr3:136664893G>A	uc003erh.2	+	3	802	c.695G>A	c.(694-696)TGC>TAC	p.C232Y	NCK1_uc011bme.1_Missense_Mutation_p.C168Y	NM_006153	NP_006144	P16333	NCK1_HUMAN	NCK adaptor protein 1	232	SH3 3.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			pancreas(1)	1						TGGTGGAAATGCAGGAAGATC	0.383													A	136664893	G	A	136664893	3	1	30	1	0	0	0	0	1	0	0	0	10219	1319	46	2	701	2	NCK1	3	136664893	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	84237998	136664893	61357537	30	33147											
ZBTB38	253461	broad.mit.edu	37	chr3	141164795	141164795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaggataacatacaaaccGgtgtggaaaatgttgtcctt	9	6	0	0	rs76129297		TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr3:141164795G>A	uc003etw.2	+	8	4547	c.3565G>A	c.(3565-3567)GGT>AGT	p.G1189S	ZBTB38_uc010hun.2_Missense_Mutation_p.G1186S|ZBTB38_uc010huo.2_Missense_Mutation_p.G1189S|ZBTB38_uc003ety.2_Missense_Mutation_p.G1189S|ZBTB38_uc010hup.2_Missense_Mutation_p.G1190S	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	1189					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CATACAAACCGGTGTGGAAAA	0.343													A	141164795	G	A	141164795	3	1	30	1	0	0	0	0	1	0	0	0	17536	1116	39	1	3567	1	ZBTB38	3	141164795	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	4499902	141164795	56857635	31	33148											
PIK3CA	5290	broad.mit.edu	37	chr3	178927980	178927980	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgttttttaaggaacacTgtccattggcatggggaaat	10	6	0	0	rs121913272		TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr3:178927980T>C	uc003fjk.2	+	8	1415	c.1258T>C	c.(1258-1260)TGT>CGT	p.C420R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	420	C2 PI3K-type.		C -> R (in cancer; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.C420R(26)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TAAGGAACACTGTCCATTGGC	0.328	C420R(EFM192A_BREAST)|C420R(OVISE_OVARY)|C420R(HEC151_ENDOMETRIUM)|C420R(CCK81_LARGE_INTESTINE)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			C	178927980	T	C	178927980	3	2	30	1	0	0	0	0	1	0	0	0	11913	1580	55	3	1284	3	PIK3CA	3	178927980	Missense_Mutation	SNP	T	TCGA-BR-6455-01A-11D-1800-08	37763185	178927980	19094450	32	33149											
KCTD8	386617	broad.mit.edu	37	chr4	44449880	44449880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtcggcctggttgtcgcGcacggtggtgtaggagcccc	18	12	0	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr4:44449880G>A	uc003gwu.2	-	1	945	c.661C>T	c.(661-663)CGC>TGC	p.R221C		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	221						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						TGGTTGTCGCGCACGGTGGTG	0.542										HNSCC(17;0.042)			A	44449880	G	A	44449880	3	1	30	1	0	0	0	0	1	0	0	0	8115	1087	38	1	768	1	KCTD8	4	44449880	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08		44449880	146704396	33	33150											
C4orf33	132321	broad.mit.edu	37	chr4	130030790	130030790	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgaagctctttaccctgtaCctcagcatgaactgcagcaa	7	12	2	2			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr4:130030790C>G	uc003igu.3	+	5	821	c.457C>G	c.(457-459)CCT>GCT	p.P153A	C4orf33_uc010ioc.1_Missense_Mutation_p.P153A|C4orf33_uc010iod.2_Missense_Mutation_p.P153A	NM_173487	NP_775758	Q8N1A6	CD033_HUMAN	hypothetical protein LOC132321	153										upper_aerodigestive_tract(1)	1						TTACCCTGTACCTCAGCATGA	0.333													G	130030790	C	G	130030790	3	3	30	1	0	0	0	0	1	0	0	0	2263	507	18	5	471	5	C4orf33	4	130030790	Missense_Mutation	SNP	C	TCGA-BR-6455-01A-11D-1800-08	85580910	130030790	61123486	34	33151											
NR3C2	4306	broad.mit.edu	37	chr4	149041319	149041319	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaatttacttgtgcttagTagcagcaaaactttcatgat	6	7	2	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr4:149041319T>C	uc003ilj.3	-	7	2965	c.2631A>G	c.(2629-2631)CTA>CTG	p.L877L	NR3C2_uc003ilk.3_Silent_p.L760L|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	877	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TTGTGCTTAGTAGCAGCAAAA	0.428													C	149041319	T	C	149041319	2	2	30	1	0	0	0	0	0	0	0	1	10631	1625	57	3		3	NR3C2	4	149041319	Silent	SNP	T	TCGA-BR-6455-01A-11D-1800-08	19010529	149041319	42112957	35	33152											
FYB	2533	broad.mit.edu	37	chr5	39202557	39202557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagtcaatttgggaaacGcttgcttctgttcattttct	7	11	4	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr5:39202557G>A	uc003jls.2	-	1	573	c.506C>T	c.(505-507)GCG>GTG	p.A169V	FYB_uc003jlt.2_Missense_Mutation_p.A169V|FYB_uc003jlu.2_Missense_Mutation_p.A169V|FYB_uc011cpl.1_Missense_Mutation_p.A179V	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2	169					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)			TTTGGGAAACGCTTGCTTCTG	0.488													A	39202557	G	A	39202557	3	1	30	1	0	0	0	0	1	0	0	0	6124	1087	38	1	2055	1	FYB	5	39202557	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08		39202557	141712703	36	33153											
POU5F2	134187	broad.mit.edu	37	chr5	93077167	93077167	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggggccgcctgggtgctcaAccaggtcagagtgtcaaccc	14	13	3	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr5:93077167A>C	uc003kkl.1	-	1	143	c.103T>G	c.(103-105)TTG>GTG	p.L35V	FAM172A_uc010jbd.2_Intron|FAM172A_uc011cuf.1_Intron|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_Intron|FAM172A_uc011cuj.1_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	35						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		TGGGTGCTCAACCAGGTCAGA	0.697													C	93077167	A	C	93077167	3	2	30	1	0	0	0	0	1	0	0	0	12283	40	2	5	887	5	POU5F2	5	93077167	Missense_Mutation	SNP	A	TCGA-BR-6455-01A-11D-1800-08	53874610	93077167	87838093	37	33154											
YTHDC2	64848	broad.mit.edu	37	chr5	112888990	112888990	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttatcatcatagtttcgatGatgaaaaagtagacttggat	8	5	2	3			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr5:112888990G>A	uc003kqn.2	+	13	1984	c.1801G>A	c.(1801-1803)GAT>AAT	p.D601N	YTHDC2_uc010jce.1_Missense_Mutation_p.D601N|YTHDC2_uc010jcf.1_Missense_Mutation_p.D301N	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	601							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TAGTTTCGATGATGAAAAAGT	0.373													A	112888990	G	A	112888990	3	1	30	1	0	0	0	0	1	0	0	0	17494	1290	45	4	1851	4	YTHDC2	5	112888990	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	19811823	112888990	68026270	38	33155											
P4HA2	8974	broad.mit.edu	37	chr5	131552925	131552925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggacaaggtcctccagcGcaggccagtctgtgtttagc	13	12	1	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr5:131552925G>A	uc003kwh.2	-	4	860	c.296C>T	c.(295-297)GCG>GTG	p.A99V	P4HA2_uc003kwg.2_Missense_Mutation_p.A99V|P4HA2_uc003kwi.2_Missense_Mutation_p.A99V|P4HA2_uc003kwk.2_Missense_Mutation_p.A99V|P4HA2_uc003kwl.2_Missense_Mutation_p.A99V|P4HA2_uc003kwj.2_Missense_Mutation_p.A99V	NM_004199	NP_004190	O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha II subunit isoform 1	99						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding				0		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	GTCCTCCAGCGCAGGCCAGTC	0.567													A	131552925	G	A	131552925	3	1	30	1	0	0	0	0	1	0	0	0	11357	1087	38	1	1423	1	P4HA2	5	131552925	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	18663935	131552925	49362335	39	33156											
BRD8	10902	broad.mit.edu	37	chr5	137475855	137475855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctaaccagatattcagtaCctaaagggttaaggaacaca	8	8	2	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr5:137475855C>T	uc003lcf.1	-	27	3671	c.3616G>A	c.(3616-3618)GTA>ATA	p.V1206I	BRD8_uc003lcc.1_Intron|NME5_uc003lce.2_5'Flank	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	1206					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATATTCAGTACCTAAAGGGTT	0.368													T	137475855	C	T	137475855	3	4	30	1	0	0	0	0	1	0	0	0	1506	521	18	4	95	4	BRD8	5	137475855	Missense_Mutation	SNP	C	TCGA-BR-6455-01A-11D-1800-08	5922930	137475855	43439405	40	33157											
PCDHB8	56128	broad.mit.edu	37	chr5	140559781	140559781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggagcagggcggcctcGgtgggtcgctgctcagtgcc	19	11	1	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr5:140559781G>A	uc011dai.1	+	1	2352	c.2166G>A	c.(2164-2166)TCG>TCA	p.S722S	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	722	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCGGCCTCGGTGGGTCGCT	0.642													A	140559781	G	A	140559781	2	1	30	1	0	0	0	0	0	0	0	1	11548	1103	39	1		1	PCDHB8	5	140559781	Silent	SNP	G	TCGA-BR-6455-01A-11D-1800-08	3083926	140559781	40355479	41	33158											
SH3RF2	153769	broad.mit.edu	37	chr5	145317619	145317619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacagagggttttcaaggCccacaaagagctgcggtgcc	12	11	2	2			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr5:145317619C>T	uc003lnt.2	+	2	366	c.128C>T	c.(127-129)GCC>GTC	p.A43V	SH3RF2_uc011dbl.1_Missense_Mutation_p.A43V	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	43	RING-type.						ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTTTCAAGGCCCACAAAGAG	0.577													T	145317619	C	T	145317619	3	4	30	1	0	0	0	0	1	0	0	0	14259	739	26	2	130	2	SH3RF2	5	145317619	Missense_Mutation	SNP	C	TCGA-BR-6455-01A-11D-1800-08	4757838	145317619	35597641	42	33159											
PCYOX1L	78991	broad.mit.edu	37	chr5	148748009	148748009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgagtggcaggcccatcCcctctatggctcccgcccca	10	18	1	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr5:148748009C>T	uc003lqk.2	+	6	1339	c.1277C>T	c.(1276-1278)CCC>CTC	p.P426L	PCYOX1L_uc003lql.2_Missense_Mutation_p.P409L|PCYOX1L_uc010jgz.2_Missense_Mutation_p.P350L|PCYOX1L_uc003lqm.2_Missense_Mutation_p.P308L|PCYOX1L_uc003lqn.2_Missense_Mutation_p.P336L	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like precursor	426					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGCCCATCCCCTCTATGGC	0.612													T	148748009	C	T	148748009	3	4	30	1	0	0	0	0	1	0	0	0	11609	623	22	4	1299	4	PCYOX1L	5	148748009	Missense_Mutation	SNP	C	TCGA-BR-6455-01A-11D-1800-08	3430390	148748009	32167251	43	33160											
EBF1	1879	broad.mit.edu	37	chr5	158158138	158158138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctgtaacctctggaaaCcataatcgatggtgggttcg	10	10	2	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr5:158158138C>T	uc010jip.2	-	11	1366	c.1064G>A	c.(1063-1065)GGT>GAT	p.G355D	EBF1_uc011ddw.1_Missense_Mutation_p.G223D|EBF1_uc011ddx.1_Missense_Mutation_p.G356D|EBF1_uc003lxl.3_Missense_Mutation_p.G324D	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	355					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTCTGGAAACCATAATCGAT	0.433			T	HMGA2	lipoma								T	158158138	C	T	158158138	3	4	30	1	0	0	0	0	1	0	0	0	4880	507	18	4	735	4	EBF1	5	158158138	Missense_Mutation	SNP	C	TCGA-BR-6455-01A-11D-1800-08	9410129	158158138	22757122	44	33161											
PKHD1	5314	broad.mit.edu	37	chr6	51512896	51512896	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catggctctgaaggaggtccCagggactctactcttcgatt	11	11	3	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr6:51512896C>A	uc003pah.1	-	63	11607	c.11331G>T	c.(11329-11331)CTG>CTT	p.L3777L		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3777	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					AAGGAGGTCCCAGGGACTCTA	0.418													A	51512896	C	A	51512896	2	1	30	1	0	0	0	0	0	0	0	1	11971	581	21	5		5	PKHD1	6	51512896	Silent	SNP	C	TCGA-BR-6455-01A-11D-1800-08		51512896	119602171	45	33162											
COL12A1	1303	broad.mit.edu	37	chr6	75893230	75893230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacaagactaatctggaccCtatttggtgaaatttcaaaa	7	8	2	2			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr6:75893230C>T	uc003phs.2	-	10	1593	c.1427G>A	c.(1426-1428)AGG>AAG	p.R476K	COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.R134K	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	476	VWFA 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						AATCTGGACCCTATTTGGTGA	0.353													T	75893230	C	T	75893230	3	4	30	1	0	0	0	0	1	0	0	0	3669	681	24	4	7992	4	COL12A1	6	75893230	Missense_Mutation	SNP	C	TCGA-BR-6455-01A-11D-1800-08	24380334	75893230	95221837	46	33163											
SLC35D3	340146	broad.mit.edu	37	chr6	137245222	137245222	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcaccgactccatccaCgcctggaccttcccgggctg	10	19	0	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr6:137245222C>T	uc003qhe.2	+	2	804	c.639C>T	c.(637-639)CAC>CAT	p.H213H		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	213					carbohydrate transport	integral to membrane				ovary(1)|central_nervous_system(1)	2	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		ACTCCATCCACGCCTGGACCT	0.657													T	137245222	C	T	137245222	2	4	30	1	0	0	0	0	0	0	0	1	14583	535	19	1		1	SLC35D3	6	137245222	Silent	SNP	C	TCGA-BR-6455-01A-11D-1800-08	61351992	137245222	33869845	47	33164											
GRM1	2911	broad.mit.edu	37	chr6	146720544	146720544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaaatatatcgcgttcaCcatgtacaccacctgtatca	6	13	2	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr6:146720544C>T	uc010khw.1	+	8	2839	c.2369C>T	c.(2368-2370)ACC>ATC	p.T790I	GRM1_uc010khv.1_Missense_Mutation_p.T790I|GRM1_uc003qll.2_Missense_Mutation_p.T790I|GRM1_uc011edz.1_Missense_Mutation_p.T790I|GRM1_uc011eea.1_Missense_Mutation_p.T790I	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	790	Helical; Name=6; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ATCGCGTTCACCATGTACACC	0.478													T	146720544	C	T	146720544	3	4	30	1	0	0	0	0	1	0	0	0	6796	507	18	4	2395	4	GRM1	6	146720544	Missense_Mutation	SNP	C	TCGA-BR-6455-01A-11D-1800-08	9475322	146720544	24394523	48	33165											
SYNE1	23345	broad.mit.edu	37	chr6	152651705	152651705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaaagagcctcctcaacGgccaggtcggtgggaacttt	13	10	1	2			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr6:152651705G>A	uc010kiw.2	-	78	14717	c.14115C>T	c.(14113-14115)GCC>GCT	p.A4705A	SYNE1_uc003qot.3_Silent_p.A4634A|SYNE1_uc003qou.3_Silent_p.A4705A|SYNE1_uc010kiz.2_Silent_p.A460A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4705	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)		CCTCCTCAACGGCCAGGTCGG	0.522										HNSCC(10;0.0054)			A	152651705	G	A	152651705	2	1	30	1	0	0	0	0	0	0	0	1	15442	1103	39	1		1	SYNE1	6	152651705	Silent	SNP	G	TCGA-BR-6455-01A-11D-1800-08	5931161	152651705	18463362	49	33166											
PDGFA	5154	broad.mit.edu	37	chr7	552006	552006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accgatgcttctcttcctccGaatgggcaggggccgcttct	11	14	2	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr7:552006G>A	uc003sir.2	-	3	1090	c.247C>T	c.(247-249)CGG>TGG	p.R83W	PDGFA_uc003sis.2_Missense_Mutation_p.R83W|PDGFA_uc003sit.1_Missense_Mutation_p.R97W	NM_002607	NP_002598	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha isoform 1	83					actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity				0		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		CTCTTCCTCCGAATGGGCAGG	0.398													A	552006	G	A	552006	3	1	30	1	0	0	0	0	1	0	0	0	11657	1057	37	1	419	1	PDGFA	7	552006	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08		552006	158586657	50	33167											
URGCP	55665	broad.mit.edu	37	chr7	43917871	43917871	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttattcagaaatctcagGtttgtgttgcgcttcccacg	8	10	2	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr7:43917871G>A	uc003tiw.2	-	6	1248	c.1191C>T	c.(1189-1191)AAC>AAT	p.N397N	URGCP_uc003tiu.2_Silent_p.N354N|URGCP_uc003tiv.2_Silent_p.N322N|URGCP_uc003tix.2_Silent_p.N388N|URGCP_uc003tiy.2_Silent_p.N354N|URGCP_uc003tiz.2_Silent_p.N354N|URGCP_uc011kbj.1_Silent_p.N354N	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	397					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						GAAATCTCAGGTTTGTGTTGC	0.438													A	43917871	G	A	43917871	2	1	30	1	0	0	0	0	0	0	0	1	17023	1252	44	4		4	URGCP	7	43917871	Silent	SNP	G	TCGA-BR-6455-01A-11D-1800-08	43365865	43917871	115220792	51	33168											
ADCY1	107	broad.mit.edu	37	chr7	45614571	45614571	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtcctttcgcgctgggCggccccgcccggggttccgc	15	17	0	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr7:45614571C>T	uc003tne.3	+	1	447	c.429C>T	c.(427-429)GGC>GGT	p.G143G	ADCY1_uc003tnd.2_5'UTR	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	143	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCGCGCTgggcggccccgccc	0.507													T	45614571	C	T	45614571	2	4	30	1	0	0	0	0	0	0	0	1	292	755	27	1		1	ADCY1	7	45614571	Silent	SNP	C	TCGA-BR-6455-01A-11D-1800-08	1696700	45614571	113524092	52	33169											
MUC17	140453	broad.mit.edu	37	chr7	100678664	100678664	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttcatctcctacacctgctGaaggtaccagcatgccaacc	7	15	2	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr7:100678664G>A	uc003uxp.1	+	3	4020	c.3967G>A	c.(3967-3969)GAA>AAA	p.E1323K	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1323	Extracellular (Potential).|20.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TACACCTGCTGAAGGTACCAG	0.468													A	100678664	G	A	100678664	3	1	30	1	0	0	0	0	1	0	0	0	9974	1291	45	4	3977	4	MUC17	7	100678664	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	55064093	100678664	58459999	53	33170											
MUC17	140453	broad.mit.edu	37	chr7	100684284	100684284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacaccagcacacctgtgaCcacttctactgaagccactt	6	15	1	3			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr7:100684284C>A	uc003uxp.1	+	3	9640	c.9587C>A	c.(9586-9588)ACC>AAC	p.T3196N	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3196	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|52.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					ACACCTGTGACCACTTCTACT	0.468													A	100684284	C	A	100684284	3	1	30	1	0	0	0	0	1	0	0	0	9974	507	18	5	9597	5	MUC17	7	100684284	Missense_Mutation	SNP	C	TCGA-BR-6455-01A-11D-1800-08	5620	100684284	58454379	54	33171											
IFRD1	3475	broad.mit.edu	37	chr7	112102348	112102348	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttccataagcttccaagccTcctctcttgtgatgatgtaa	6	11	1	2			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr7:112102348T>C	uc003vgh.2	+	9	1264	c.821T>C	c.(820-822)CTC>CCC	p.L274P	IFRD1_uc011kmn.1_Missense_Mutation_p.L224P|IFRD1_uc003vgj.2_Missense_Mutation_p.L274P|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Missense_Mutation_p.L224P	NM_001007245	NP_001007246	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	274					multicellular organismal development|myoblast cell fate determination		binding			kidney(1)|central_nervous_system(1)	2						CTTCCAAGCCTCCTCTCTTGT	0.353													C	112102348	T	C	112102348	3	2	30	1	0	0	0	0	1	0	0	0	7553	1551	54	3	851	3	IFRD1	7	112102348	Missense_Mutation	SNP	T	TCGA-BR-6455-01A-11D-1800-08	11418064	112102348	47036315	55	33172											
FAM180A	389558	broad.mit.edu	37	chr7	135418743	135418743	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagggaggtactcccggctGtgaggagcgcatcaagtcgt	15	10	2	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr7:135418743G>T	uc003vtd.2	-	3	768	c.502C>A	c.(502-504)CAG>AAG	p.Q168K	FAM180A_uc010lmt.2_RNA|FAM180A_uc010lmu.2_Missense_Mutation_p.Q168K	NM_205855	NP_995327	Q6UWF9	F180A_HUMAN	hypothetical protein LOC389558 precursor	168						extracellular region				ovary(2)	2						ACTCCCGGCTGTGAGGAGCGC	0.587													T	135418743	G	T	135418743	3	4	30	1	0	0	0	0	1	0	0	0	5507	1386	48	5	23	5	FAM180A	7	135418743	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	23316395	135418743	23719920	56	33173											
FAM135B	51059	broad.mit.edu	37	chr8	139209873	139209873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcggtgccacttgtgtgCgtgctgcatgcagttctcag	13	11	2	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr8:139209873C>T	uc003yuy.2	-	8	880	c.709G>A	c.(709-711)GCA>ACA	p.A237T	FAM135B_uc003yux.2_Missense_Mutation_p.A138T|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	237										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACTTGTGTGCGTGCTGCATG	0.582										HNSCC(54;0.14)			T	139209873	C	T	139209873	3	4	30	1	0	0	0	0	1	0	0	0	5449	768	27	1	3563	1	FAM135B	8	139209873	Missense_Mutation	SNP	C	TCGA-BR-6455-01A-11D-1800-08		139209873	7154149	57	33174											
PLEC	5339	broad.mit.edu	37	chr8	144997456	144997456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcggcctccgtggcctccGccttcagccgctgcagctcc	12	19	1	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr8:144997456G>A	uc003zaf.1	-	31	7222	c.7052C>T	c.(7051-7053)GCG>GTG	p.A2351V	PLEC_uc003zab.1_Missense_Mutation_p.A2214V|PLEC_uc003zac.1_Missense_Mutation_p.A2218V|PLEC_uc003zad.2_Missense_Mutation_p.A2214V|PLEC_uc003zae.1_Missense_Mutation_p.A2182V|PLEC_uc003zag.1_Missense_Mutation_p.A2192V|PLEC_uc003zah.2_Missense_Mutation_p.A2200V|PLEC_uc003zaj.2_Missense_Mutation_p.A2241V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2351	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CGTGGCCTCCGCCTTCAGCCG	0.662													A	144997456	G	A	144997456	3	1	30	1	0	0	0	0	1	0	0	0	12052	1087	38	1	7010	1	PLEC	8	144997456	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	5787583	144997456	1366566	58	33175											
FAM166B	730112	broad.mit.edu	37	chr9	35562915	35562915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctccagctgcccctccGgctctggcacctggtccttc	9	20	1	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr9:35562915G>A	uc010mkr.2	-	3	520	c.449C>T	c.(448-450)CCG>CTG	p.P150L	FAM166B_uc011lov.1_Missense_Mutation_p.P150L|FAM166B_uc011low.1_Missense_Mutation_p.P150L|FAM166B_uc003zwy.2_Missense_Mutation_p.P150L	NM_001164310	NP_001157782	A8MTA8	F166B_HUMAN	hypothetical protein LOC730112 isoform 1	150											0						CTGCCCCTCCGGCTCTGGCAC	0.567													A	35562915	G	A	35562915	3	1	30	1	0	0	0	0	1	0	0	0	5482	1116	39	1	213	1	FAM166B	9	35562915	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08		35562915	105650516	59	33176											
PPP3R2	5535	broad.mit.edu	37	chr9	104356919	104356919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatgtcgtaaatgctgaaCgcaaacctcaacttctgctc	6	13	2	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr9:104356919C>T	uc004bbr.2	-	1	365	c.294G>A	c.(292-294)GCG>GCA	p.A98A	GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_RNA	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	protein phosphatase 3 regulatory subunit B, beta	95	EF-hand 3.						calcium ion binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	AAATGCTGAACGCAAACCTCA	0.537													T	104356919	C	T	104356919	2	4	30	1	0	0	0	0	0	0	0	1	12401	523	19	1		1	PPP3R2	9	104356919	Silent	SNP	C	TCGA-BR-6455-01A-11D-1800-08	68794004	104356919	36856512	60	33177											
NUP188	23511	broad.mit.edu	37	chr9	131768031	131768031	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccttctggccacagtgaaTgtggccctcaacatgcttgg	10	13	2	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr9:131768031T>C	uc004bws.1	+	41	4867	c.4845T>C	c.(4843-4845)AAT>AAC	p.N1615N		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1615					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						CCACAGTGAATGTGGCCCTCA	0.502													C	131768031	T	C	131768031	2	2	30	1	0	0	0	0	0	0	0	1	10758	1461	51	3		3	NUP188	9	131768031	Silent	SNP	T	TCGA-BR-6455-01A-11D-1800-08	27411112	131768031	9445400	61	33178											
FBXW5	54461	broad.mit.edu	37	chr9	139835750	139835750	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagatgaagaagcactcGtcgttgggcgtgtaggcgcg	17	7	0	3			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr9:139835750G>A	uc004cjx.2	-	8	1561	c.1410C>T	c.(1408-1410)GAC>GAT	p.D470D	FBXW5_uc010nbx.2_RNA|FBXW5_uc004cjy.2_Silent_p.D218D|FBXW5_uc004cjz.2_Silent_p.D200D	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	470	WD 2.						catalytic activity|protein binding				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		AGAAGCACTCGTCGTTGGGCG	0.682													A	139835750	G	A	139835750	2	1	30	1	0	0	0	0	0	0	0	1	5768	1136	40	1		1	FBXW5	9	139835750	Silent	SNP	G	TCGA-BR-6455-01A-11D-1800-08	8067719	139835750	1377681	62	33179											
C9orf140	89958	broad.mit.edu	37	chr9	139960781	139960781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgggcacggggagcccgcCgggcatcccctgagtccgcc	15	18	0	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr9:139960781C>T	uc011men.1	-	2	733	c.617G>A	c.(616-618)CGG>CAG	p.R206Q		NM_178448	NP_848543	Q86UD0	CI140_HUMAN	tumor specificity and mitosis phase-dependent	206						cytoplasm|nucleus				skin(1)	1	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;3.02e-05)|Epithelial(140;0.000499)		GGGAGCCCGCCGGGCATCCCC	0.711													T	139960781	C	T	139960781	3	4	30	1	0	0	0	0	1	0	0	0	2460	652	23	1	587	1	C9orf140	9	139960781	Missense_Mutation	SNP	C	TCGA-BR-6455-01A-11D-1800-08	125031	139960781	1252650	63	33180											
PDE6C	5146	broad.mit.edu	37	chr10	95372701	95372701	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaccgtgcaggaggagggGggcaccccagagcagggggt	21	9	0	1	rs140469169	byFrequency	TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr10:95372701G>A	uc001kiu.3	+	1	357	c.219G>A	c.(217-219)GGG>GGA	p.G73G		NM_006204	NP_006195	P51160	PDE6C_HUMAN	phosphodiesterase 6C	73					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			ovary(2)|kidney(1)|skin(1)	4		Colorectal(252;0.123)				AGGAGGAGGGGGGCACCCCAG	0.672													A	95372701	G	A	95372701	2	1	30	1	0	0	0	0	0	0	0	1	11647	1219	43	4		4	PDE6C	10	95372701	Silent	SNP	G	TCGA-BR-6455-01A-11D-1800-08		95372701	40162046	64	33181											
PYROXD2	84795	broad.mit.edu	37	chr10	100154955	100154955	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcacccccctcactcacccActccccggagtgtggggact	8	20	3	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr10:100154955A>G	uc001kpc.2	-	8	869	c.783T>C	c.(781-783)AGT>AGC	p.S261S	PYROXD2_uc001kpb.2_RNA|PYROXD2_uc001kpd.2_RNA|PYROXD2_uc010qpe.1_Silent_p.S261S	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase	261							oxidoreductase activity			central_nervous_system(1)	1						TCACTCACCCACTCCCCGGAG	0.542													G	100154955	A	G	100154955	2	3	30	1	0	0	0	0	0	0	0	1	12867	156	6	3		3	PYROXD2	10	100154955	Silent	SNP	A	TCGA-BR-6455-01A-11D-1800-08	4782254	100154955	35379792	65	33182											
NDUFS3	4722	broad.mit.edu	37	chr11	47604020	47604020	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctatctggctatgttgaGgtaggagccttggaactggg	14	8	2	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr11:47604020G>A	uc001nga.2	+	6	709	c.627G>A	c.(625-627)GAG>GAA	p.E209E	NDUFS3_uc001nft.3_Silent_p.E188E	NM_004551	NP_004542	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3	209					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding				0					NADH(DB00157)	GCTATGTTGAGGTAGGAGCCT	0.502													A	47604020	G	A	47604020	2	1	30	1	0	0	0	0	0	0	0	1	10293	1014	35	4		4	NDUFS3	11	47604020	Silent	SNP	G	TCGA-BR-6455-01A-11D-1800-08		47604020	87402496	66	33183											
CNTF	1270	broad.mit.edu	37	chr11	58391516	58391516	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctcggccaggtgaagcatCagggcctgaacaagaacatc	11	12	1	3			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr11:58391516C>T	uc001nna.3	+	2	204	c.124C>T	c.(124-126)CAG>TAG	p.Q42*	ZFP91-CNTF_uc010rkm.1_RNA	NM_000614	NP_000605	P26441	CNTF_HUMAN	ciliary neurotrophic factor	42					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GGTGAAGCATCAGGGCCTGAA	0.507													T	58391516	C	T	58391516	4	4	30	1	0	0	0	0	0	1	0	0	3637	827	29	4	130	4	CNTF	11	58391516	Nonsense_Mutation	SNP	C	TCGA-BR-6455-01A-11D-1800-08	10787496	58391516	76615000	67	33184											
MS4A8B	83661	broad.mit.edu	37	chr11	60476242	60476242	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccccgactattatccttaCgcctggggtgtggtgagtat	11	10	0	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr11:60476242C>T	uc001npv.2	+	5	725	c.522C>T	c.(520-522)TAC>TAT	p.Y174Y	MS4A8B_uc009yne.1_Silent_p.Y174Y	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	membrane-spanning 4-domains, subfamily A, member	174	Extracellular (Potential).					integral to membrane	receptor activity				0						ATTATCCTTACGCCTGGGGTG	0.458													T	60476242	C	T	60476242	2	4	30	1	0	0	0	0	0	0	0	1	9867	547	19	1		1	MS4A8B	11	60476242	Silent	SNP	C	TCGA-BR-6455-01A-11D-1800-08	2084726	60476242	74530274	68	33185											
BIRC3	330	broad.mit.edu	37	chr11	102195339	102195339	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcatgtgaactgtaccgaatGtctacgtattccacttttcc	6	11	2	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr11:102195339G>C	uc001pgx.2	+	3	321	c.99G>C	c.(97-99)ATG>ATC	p.M33I		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	baculoviral IAP repeat-containing protein 3	33	BIR 1.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|skin(1)	4	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TGTACCGAATGTCTACGTATT	0.403			T	MALT1	MALT								C	102195339	G	C	102195339	3	2	30	1	0	0	0	0	1	0	0	0	1436	1377	48	5	101	5	BIRC3	11	102195339	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	41719097	102195339	32811177	69	33186											
CACNA1C	775	broad.mit.edu	37	chr12	2719812	2719812	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggtcaactccacctacttcGagtacctgatgttcgtcctc	7	14	1	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr12:2719812G>T	uc009zdu.1	+	29	4037	c.3724G>T	c.(3724-3726)GAG>TAG	p.E1242*	CACNA1C_uc009zdv.1_Nonsense_Mutation_p.E1219*|CACNA1C_uc001qkb.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qkc.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qke.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qkf.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qjz.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qkd.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qkg.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc009zdw.1_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qkh.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qkl.2_Nonsense_Mutation_p.E1242*|CACNA1C_uc001qkn.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qko.2_Nonsense_Mutation_p.E1242*|CACNA1C_uc001qkp.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qkr.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qku.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qkq.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qks.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qkt.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qka.1_Nonsense_Mutation_p.E757*|CACNA1C_uc001qki.1_Nonsense_Mutation_p.E958*|CACNA1C_uc001qkj.1_Nonsense_Mutation_p.E958*|CACNA1C_uc001qkk.1_Nonsense_Mutation_p.E958*|CACNA1C_uc001qkm.1_Nonsense_Mutation_p.E958*	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1242	Helical; Name=S1 of repeat IV; (Potential).|IV.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CACCTACTTCGAGTACCTGAT	0.587													T	2719812	G	T	2719812	4	4	30	1	0	0	0	0	0	1	0	0	2540	1059	37	5	3946	5	CACNA1C	12	2719812	Nonsense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08		2719812	131132083	70	33187											
TEAD4	7004	broad.mit.edu	37	chr12	3131110	3131110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaatctatgacaaattccCggagaaaaagggtggactca	9	9	2	2			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr12:3131110C>T	uc010sej.1	+	10	1098	c.821C>T	c.(820-822)CCG>CTG	p.P274L	TEAD4_uc010sek.1_Missense_Mutation_p.P231L|TEAD4_uc001qln.2_Missense_Mutation_p.P146L	NM_003213	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4 isoform 1	275					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GACAAATTCCCGGAGAAAAAG	0.517													T	3131110	C	T	3131110	3	4	30	1	0	0	0	0	1	0	0	0	15738	652	23	1	854	1	TEAD4	12	3131110	Missense_Mutation	SNP	C	TCGA-BR-6455-01A-11D-1800-08	411298	3131110	130720785	71	33188											
ALG10	84920	broad.mit.edu	37	chr12	34179654	34179654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgttcactgttatagttcCtcagaaactgctggaatttc	7	9	2	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr12:34179654C>T	uc001rlm.2	+	3	1545	c.1226C>T	c.(1225-1227)CCT>CTT	p.P409L		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	asparagine-linked glycosylation 10 homolog	409	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			skin(1)	1	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GTTATAGTTCCTCAGAAACTG	0.358													T	34179654	C	T	34179654	3	4	30	1	0	0	0	0	1	0	0	0	511	681	24	4	1236	4	ALG10	12	34179654	Missense_Mutation	SNP	C	TCGA-BR-6455-01A-11D-1800-08	31048544	34179654	99672241	72	33189											
ARID2	196528	broad.mit.edu	37	chr12	46298723	46298724	+	Frame_Shift_Del	DEL	AA	AA	-													atgtttttttgcagattgttAaagagacatgaaaataactt							TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr12:46298722_46298723TAA>T	uc001ros.1	+	20	5369_5370	c.5369_5370TAA>T	c.(5368-5370)ttafs	p.L1790fs	ARID2_uc009zkg.1_Frame_Shift_Del_p.L1246fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.L1417fs|ARID2_uc001rou.1_3'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1790					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGCAGATTGTTAAAGAGACATG	0.337			"N, S, F"		hepatocellular carcinoma								-	46298724	AA	-	46298723	7	5	30	1	0	1	0	1	0	0	0	0	915	359	13	0	5452	0	ARID2	12	46298723	Frame_Shift_Del	DEL	AA	TCGA-BR-6455-01A-11D-1800-08	12119069	46298723	87553172	73	33190											
MLL2	8085	broad.mit.edu	37	chr12	49424062	49424062	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcatctgctcttgacttaCccctcagtgccctttcacta	6	15	4	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr12:49424062C>T	uc001rta.3	-	42	13999	c.13999_splice	c.e42+1	p.D4667_splice		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2						chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TCTTGACTTACCCCTCAGTGC	0.547			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			T	49424062	C	T	49424062	5	4	30	1	0	0	0	0	0	0	1	0	9621	521	18	4	2665	4	MLL2	12	49424062	Splice_Site	SNP	C	TCGA-BR-6455-01A-11D-1800-08	3125339	49424062	84427833	74	33191											
C12orf44	60673	broad.mit.edu	37	chr12	52470726	52470726	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctggccacggagcaggagCggcagatctgccgggagaag	17	12	1	2			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr12:52470726C>A	uc001rzu.3	+	4	884	c.409C>A	c.(409-411)CGG>AGG	p.R137R	C12orf44_uc009zmd.2_Silent_p.R137R|uc009zme.1_5'Flank	NM_021934	NP_068753	Q9BSB4	ATGA1_HUMAN	Atg13-interacting protein	137					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0978)		GGAGCAGGAGCGGCAGATCTG	0.567													A	52470726	C	A	52470726	2	1	30	1	0	0	0	0	0	0	0	1	1690	759	27	5		5	C12orf44	12	52470726	Silent	SNP	C	TCGA-BR-6455-01A-11D-1800-08	3046664	52470726	81381169	75	33192											
RBMS2	5939	broad.mit.edu	37	chr12	56975886	56975886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacccccaacaggatgcttGctcagtctgcactctcccca	6	18	4	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr12:56975886G>A	uc001sln.2	+	9	1022	c.823G>A	c.(823-825)GCT>ACT	p.A275T	RBMS2_uc010sqp.1_Missense_Mutation_p.A130T|RBMS2_uc010sqq.1_Missense_Mutation_p.A150T|RBMS2_uc009zou.2_Missense_Mutation_p.A32T	NM_002898	NP_002889	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting	275					RNA processing	nucleus	nucleotide binding|RNA binding				0						CAGGATGCTTGCTCAGTCTGC	0.502													A	56975886	G	A	56975886	3	1	30	1	0	0	0	0	1	0	0	0	13149	1319	46	2	857	2	RBMS2	12	56975886	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	4505160	56975886	76876009	76	33193											
ALX1	8092	broad.mit.edu	37	chr12	85677378	85677378	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggatcactaaagtagaaggAcagccccttcacaccgaact	9	12	2	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr12:85677378A>G	uc001tae.3	+	2	259	c.255A>G	c.(253-255)GGA>GGG	p.G85G		NM_006982	NP_008913	Q15699	ALX1_HUMAN	cartilage paired-class homeoprotein 1	85					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(134;0.134)		AAGTAGAAGGACAGCCCCTTC	0.438													G	85677378	A	G	85677378	2	3	30	1	0	0	0	0	0	0	0	1	556	262	10	3		3	ALX1	12	85677378	Silent	SNP	A	TCGA-BR-6455-01A-11D-1800-08	28701492	85677378	48174517	77	33194											
CCDC122	160857	broad.mit.edu	37	chr13	44433927	44433927	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagttcagtcataaatgaccAtttgctctctacttccccca	5	13	3	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr13:44433927A>G	uc010acf.2	-	5	695	c.436T>C	c.(436-438)TGG>CGG	p.W146R	CCDC122_uc010tfn.1_Missense_Mutation_p.W146R	NM_144974	NP_659411	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	146											0		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		ATAAATGACCATTTGCTCTCT	0.318													G	44433927	A	G	44433927	3	3	30	1	0	0	0	0	1	0	0	0	2758	217	8	3	397	3	CCDC122	13	44433927	Missense_Mutation	SNP	A	TCGA-BR-6455-01A-11D-1800-08		44433927	70735951	78	33195											
NID2	22795	broad.mit.edu	37	chr14	52508986	52508986	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcccacgatatacgcatgCaggtccacatcagtgaagtg	10	11	1	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr14:52508986C>T	uc001wzo.2	-	7	1896	c.1662G>A	c.(1660-1662)CTG>CTA	p.L554L	NID2_uc010tqs.1_Silent_p.L554L|NID2_uc010tqt.1_Silent_p.L554L|NID2_uc001wzp.2_Silent_p.L554L	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	554	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					TATACGCATGCAGGTCCACAT	0.587													T	52508986	C	T	52508986	2	4	30	1	0	0	0	0	0	0	0	1	10415	697	25	2		2	NID2	14	52508986	Silent	SNP	C	TCGA-BR-6455-01A-11D-1800-08		52508986	54840554	79	33196											
MTHFD1	4522	broad.mit.edu	37	chr14	64894054	64894054	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcttttgctttcgtcttgaaGaataactccaacacccctgg	6	12	2	2			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr14:64894054G>C	uc001xhb.2	+	12	1515	c.1128_splice	c.e12-1	p.G376_splice	MTHFD1_uc010aqe.2_Splice_Site_p.G412_splice|MTHFD1_uc010aqf.2_Splice_Site_p.G432_splice	NM_005956	NP_005947	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase 1						folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TCGTCTTGAAGAATAACTCCA	0.423													C	64894054	G	C	64894054	5	2	30	1	0	0	0	0	0	0	1	0	9927	956	33	5	1173	5	MTHFD1	14	64894054	Splice_Site	SNP	G	TCGA-BR-6455-01A-11D-1800-08	12385068	64894054	42455486	80	33197											
CYP19A1	1588	broad.mit.edu	37	chr15	51503068	51503068	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atttccagcatgtttttagtCtcatctgggtgcaaggacaa	9	8	2	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr15:51503068C>T	uc001zyz.3	-	11	1700	c.1449G>A	c.(1447-1449)GAG>GAA	p.E483E	CYP19A1_uc001zza.3_Silent_p.E483E	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	483					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TGTTTTTAGTCTCATCTGGGT	0.463													T	51503068	C	T	51503068	2	4	30	1	0	0	0	0	0	0	0	1	4148	912	32	4		4	CYP19A1	15	51503068	Silent	SNP	C	TCGA-BR-6455-01A-11D-1800-08		51503068	51028324	81	33198											
ISLR	3671	broad.mit.edu	37	chr15	74467619	74467619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccttcatcccccgcgaCgccttccgcagcctccgtgc	8	21	1	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr15:74467619C>T	uc002axg.1	+	2	702	c.420C>T	c.(418-420)GAC>GAT	p.D140D	ISLR_uc002axh.1_Silent_p.D140D	NM_005545	NP_005536	O14498	ISLR_HUMAN	immunoglobulin superfamily containing	140	LRR 4.				cell adhesion	extracellular region				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						TCCCCCGCGACGCCTTCCGCA	0.612													T	74467619	C	T	74467619	2	4	30	1	0	0	0	0	0	0	0	1	7858	535	19	1		1	ISLR	15	74467619	Silent	SNP	C	TCGA-BR-6455-01A-11D-1800-08	22964551	74467619	28063773	82	33199											
AXIN1	8312	broad.mit.edu	37	chr16	339583	339583	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggctgggcactcccgccGcccaccttcctctgcgatct	9	20	2	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr16:339583G>A	uc002cgp.1	-	10	2496	c.2319C>T	c.(2317-2319)GGC>GGT	p.G773G	AXIN1_uc002cgq.1_Silent_p.G737G	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	773	Interaction with PPP2CA.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CACTCCCGCCGCCCACCTTCC	0.647													A	339583	G	A	339583	2	1	30	1	0	0	0	0	0	0	0	1	1236	1074	38	1		1	AXIN1	16	339583	Silent	SNP	G	TCGA-BR-6455-01A-11D-1800-08		339583	90015170	83	33200											
C16orf73	254528	broad.mit.edu	37	chr16	1891975	1891975	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatcaactattgtacttaCtaaaaacagaaagaagtatt	5	6	1	2			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr16:1891975C>T	uc002cne.2	-	11	999	c.881_splice	c.e11-1	p.L294_splice	C16orf73_uc010uvq.1_Splice_Site_p.L294_splice|C16orf73_uc010uvr.1_Splice_Site_p.L87_splice	NM_152764	NP_689977	Q8N635	CP073_HUMAN	hypothetical protein LOC254528 isoform 2						meiosis	cytoplasm					0						ATTGTACTTACTAAAAACAGA	0.328													T	1891975	C	T	1891975	5	4	30	1	0	0	0	0	0	0	1	0	1832	579	20	4	551	4	C16orf73	16	1891975	Splice_Site	SNP	C	TCGA-BR-6455-01A-11D-1800-08	1552392	1891975	88462778	84	33201											
ITPRIPL2	162073	broad.mit.edu	37	chr16	19126204	19126204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcgcccgggggtcccccGgtctcattcctgggggagcg	17	16	1	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr16:19126204G>A	uc002dfu.3	+	1	951	c.421G>A	c.(421-423)GGT>AGT	p.G141S	ITPRIPL2_uc002dft.2_5'UTR	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-triphosphate receptor interacting	141	Cytoplasmic (Potential).					integral to membrane				skin(2)	2						GGGGTCCCCCGGTCTCATTCC	0.692													A	19126204	G	A	19126204	3	1	30	1	0	0	0	0	1	0	0	0	7925	1116	39	1	423	1	ITPRIPL2	16	19126204	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	17234229	19126204	71228549	85	33202											
TUFM	7284	broad.mit.edu	37	chr16	28855126	28855126	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatgacaggcatgaagtgGgacacaaagggcttgtggcg	15	7	0	2			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr16:28855126G>A	uc002drh.2	-	9	1264	c.1125C>T	c.(1123-1125)TCC>TCT	p.S375S	uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank	NM_003321	NP_003312	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	372						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			ovary(1)	1						GCATGAAGTGGGACACAAAGG	0.587													A	28855126	G	A	28855126	2	1	30	1	0	0	0	0	0	0	0	1	16768	1219	43	4		4	TUFM	16	28855126	Silent	SNP	G	TCGA-BR-6455-01A-11D-1800-08	9728922	28855126	61499627	86	33203											
HYDIN	54768	broad.mit.edu	37	chr16	70908761	70908761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctgtgatgtagatatacGcggtggtgggcctccctttc	12	11	1	2			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr16:70908761G>A	uc002ezr.2	-	63	10744	c.10616C>T	c.(10615-10617)GCG>GTG	p.A3539V		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3540										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				GTAGATATACGCGGTGGTGGG	0.507													A	70908761	G	A	70908761	3	1	30	1	0	0	0	0	1	0	0	0	7467	1087	38	1	4842	1	HYDIN	16	70908761	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	42053635	70908761	19445992	87	33204											
FA2H	79152	broad.mit.edu	37	chr16	74750315	74750315	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacaggtaggagcccttgtgCggcgagccaaagtgcaggta	15	9	0	0	rs144071567	byFrequency	TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr16:74750315C>A	uc002fde.1	-	6	1037	c.969G>T	c.(967-969)CCG>CCT	p.P323P	FA2H_uc002fdd.1_Silent_p.P96P|FA2H_uc010vmy.1_RNA	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	323					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity				0						AGCCCTTGTGCGGCGAGCCAA	0.607													A	74750315	C	A	74750315	2	1	30	1	0	0	0	0	0	0	0	1	5352	755	27	5		5	FA2H	16	74750315	Silent	SNP	C	TCGA-BR-6455-01A-11D-1800-08	3841554	74750315	15604438	88	33205											
OVCA2	124641	broad.mit.edu	37	chr17	1945948	1945948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggtggttttcagagcaGgaggccgacgttttctccgc	15	10	2	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr17:1945948G>A	uc002ftx.2	+	2	299	c.234G>A	c.(232-234)CAG>CAA	p.Q78Q	DPH1_uc002ftr.1_Intron|DPH1_uc002fts.2_3'UTR|DPH1_uc002ftt.2_3'UTR|DPH1_uc010cjx.2_3'UTR|DPH1_uc010vqs.1_3'UTR|DPH1_uc002ftu.2_3'UTR|DPH1_uc002ftv.2_3'UTR|DPH1_uc002ftw.2_3'UTR	NM_080822	NP_543012	Q8WZ82	OVCA2_HUMAN	candidate tumor suppressor in ovarian cancer 2	78					response to retinoic acid	cytoplasm	hydrolase activity				0						TTTCAGAGCAGGAGGCCGACG	0.617											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	1945948	G	A	1945948	2	1	30	1	0	0	0	0	0	0	0	1	11322	991	35	4		4	OVCA2	17	1945948	Silent	SNP	G	TCGA-BR-6455-01A-11D-1800-08		1945948	79249262	89	33206											
ZMYND15	84225	broad.mit.edu	37	chr17	4646694	4646694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatgctgattccaggccCgggcttctccagacaccccc	9	18	1	2			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr17:4646694C>T	uc002fyt.2	+	6	1280	c.1241C>T	c.(1240-1242)CCG>CTG	p.P414L	ZMYND15_uc002fyv.2_Missense_Mutation_p.P414L|ZMYND15_uc002fyu.2_Missense_Mutation_p.P414L	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15 isoform 2	414							zinc ion binding				0						ATTCCAGGCCCGGGCTTCTCC	0.632													T	4646694	C	T	4646694	3	4	30	1	0	0	0	0	1	0	0	0	17705	652	23	1	1259	1	ZMYND15	17	4646694	Missense_Mutation	SNP	C	TCGA-BR-6455-01A-11D-1800-08	2700746	4646694	76548516	90	33207											
MYH4	4622	broad.mit.edu	37	chr17	10362660	10362660	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtactcttcctgctccaGcacgaacatgtggtggttga	10	11	1	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr17:10362660G>A	uc002gmn.2	-	15	1606	c.1495C>T	c.(1495-1497)CTG>TTG	p.L499L	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	499	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						TCCTGCTCCAGCACGAACATG	0.478													A	10362660	G	A	10362660	2	1	30	1	0	0	0	0	0	0	0	1	10037	962	34	2		2	MYH4	17	10362660	Silent	SNP	G	TCGA-BR-6455-01A-11D-1800-08	5715966	10362660	70832550	91	33208											
FBXW10	10517	broad.mit.edu	37	chr17	18675802	18675802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtatgccgtggaaaaaaCgaaacaaaagaagaataagg	11	5	0	2	rs150329747	byFrequency	TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr17:18675802C>T	uc002guk.2	+	12	2316	c.2084C>T	c.(2083-2085)ACG>ATG	p.T695M	FBXW10_uc002guj.2_Missense_Mutation_p.T695M|FBXW10_uc002gul.2_Missense_Mutation_p.T724M|FBXW10_uc010cqh.1_Missense_Mutation_p.T642M	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	F-box and WD-40 domain protein 10	695	Potential.									ovary(1)	1						GTggaaaaaacgaaacaaaag	0.328													T	18675802	C	T	18675802	3	4	30	1	0	0	0	0	1	0	0	0	5763	536	19	1	2130	1	FBXW10	17	18675802	Missense_Mutation	SNP	C	TCGA-BR-6455-01A-11D-1800-08	8313142	18675802	62519408	92	33209											
SLC4A1	6521	broad.mit.edu	37	chr17	42338119	42338119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagttgcacccagcgcgccGcctccatccatctcagctcc	7	21	1	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr17:42338119G>A	uc002igf.3	-	5	382	c.233C>T	c.(232-234)GCG>GTG	p.A78V	SLC4A1_uc002igg.3_Missense_Mutation_p.A78V	NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	78	Cytoplasmic.				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCAGCGCGCCGCCTCCATCCA	0.622													A	42338119	G	A	42338119	3	1	30	1	0	0	0	0	1	0	0	0	14650	1087	38	1	2566	1	SLC4A1	17	42338119	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	23662317	42338119	38857091	93	33210											
DGKE	8526	broad.mit.edu	37	chr17	54912541	54912541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgccccaccactggatcCggggcaacgtgcccctgtgc	11	18	0	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr17:54912541C>T	uc002iur.2	+	2	565	c.385C>T	c.(385-387)CGG>TGG	p.R129W	DGKE_uc002ius.1_Missense_Mutation_p.R129W|C17orf67_uc002iuq.2_5'Flank	NM_003647	NP_003638	P52429	DGKE_HUMAN	diacylglycerol kinase epsilon	129	Phorbol-ester/DAG-type 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(2)	2	Breast(9;3.59e-07)					CCACTGGATCCGGGGCAACGT	0.567													T	54912541	C	T	54912541	3	4	30	1	0	0	0	0	1	0	0	0	4468	643	23	1	387	1	DGKE	17	54912541	Missense_Mutation	SNP	C	TCGA-BR-6455-01A-11D-1800-08	12574422	54912541	26282669	94	33211											
BAHCC1	57597	broad.mit.edu	37	chr17	79428363	79428363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaacaagacctgcaaggCgttgctcatgggggacaagg	14	9	1	2			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr17:79428363C>T	uc002kaf.2	+	24	6674	c.6674C>T	c.(6673-6675)GCG>GTG	p.A2225V	BAHCC1_uc002kae.2_Missense_Mutation_p.A1455V	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BAH domain and coiled-coil containing 1	2225							DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			ACCTGCAAGGCGTTGCTCATG	0.677													T	79428363	C	T	79428363	3	4	30	1	0	0	0	0	1	0	0	0	1296	768	27	1	6607	1	BAHCC1	17	79428363	Missense_Mutation	SNP	C	TCGA-BR-6455-01A-11D-1800-08	24515822	79428363	1766847	95	33212											
EPB41L3	23136	broad.mit.edu	37	chr18	5398077	5398077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaattctgttggttttcgCgcagactctaataaactgaa	8	7	2	3			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr18:5398077C>T	uc002kmt.1	-	17	2501	c.2415G>A	c.(2413-2415)GCG>GCA	p.A805A	EPB41L3_uc010wzh.1_Silent_p.A636A|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Silent_p.A110A|EPB41L3_uc010wzf.1_Silent_p.A102A|EPB41L3_uc010wzg.1_Silent_p.A77A|EPB41L3_uc010dkr.2_Silent_p.A197A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	805	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						TTGGTTTTCGCGCAGACTCTA	0.448													T	5398077	C	T	5398077	2	4	30	1	0	0	0	0	0	0	0	1	5154	755	27	1		1	EPB41L3	18	5398077	Silent	SNP	C	TCGA-BR-6455-01A-11D-1800-08		5398077	72679171	96	33213											
PIGN	23556	broad.mit.edu	37	chr18	59777079	59777079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacttactctcttagaaccGcataccatattggcagtggc	7	11	1	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr18:59777079G>A	uc002lii.3	-	18	2010	c.1562C>T	c.(1561-1563)GCG>GTG	p.A521V	PIGN_uc002lij.3_Missense_Mutation_p.A521V	NM_176787	NP_789744	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	521	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5		Colorectal(73;0.187)				TCTTAGAACCGCATACCATAT	0.358													A	59777079	G	A	59777079	3	1	30	1	0	0	0	0	1	0	0	0	11893	1087	38	1	1293	1	PIGN	18	59777079	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	54379002	59777079	18300169	97	33214											
CYP4F2	8529	broad.mit.edu	37	chr19	15989736	15989736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccatcgcgaacgtctgccCgatgcagttcctaggggagg	14	13	1	0	rs146148233		TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr19:15989736C>T	uc002nbs.1	-	13	1458	c.1408G>A	c.(1408-1410)GGG>AGG	p.G470R	CYP4F2_uc010xot.1_Missense_Mutation_p.G321R	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	470					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2						AACGTCTGCCCGATGCAGTTC	0.672													T	15989736	C	T	15989736	3	4	30	1	0	0	0	0	1	0	0	0	4188	652	23	1	158	1	CYP4F2	19	15989736	Missense_Mutation	SNP	C	TCGA-BR-6455-01A-11D-1800-08		15989736	43139247	98	33215											
LSM4	25804	broad.mit.edu	37	chr19	18420552	18420552	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcaggcctccgcggccGcggcccttggccaccacctc	12	20	0	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr19:18420552G>A	uc002niq.2	-	4	435	c.264C>T	c.(262-264)CGC>CGT	p.R88R		NM_012321	NP_036453	Q9Y4Z0	LSM4_HUMAN	U6 snRNA-associated Sm-like protein 4	88					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|U6 snRNP	protein binding|RNA binding				0						CTCCGCGGCCGCGGCCCTTGG	0.682													A	18420552	G	A	18420552	2	1	30	1	0	0	0	0	0	0	0	1	9058	1074	38	1		1	LSM4	19	18420552	Silent	SNP	G	TCGA-BR-6455-01A-11D-1800-08	2430816	18420552	40708431	99	33216											
MED29	55588	broad.mit.edu	37	chr19	39882040	39882040	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacgcagtcgtaacgcacTtccggcggtctacgcgagga	14	12	1	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr19:39882040T>C	uc002olf.2	+	1	78	c.41T>C	c.(40-42)CTT>CCT	p.L14P	PAF1_uc002old.2_5'Flank|PAF1_uc002ole.1_5'Flank|PAF1_uc010xuv.1_5'Flank|MED29_uc010xuw.1_Missense_Mutation_p.L14P|MED29_uc010xux.1_RNA	NM_017592	NP_060062	Q9NX70	MED29_HUMAN	mediator complex subunit 29	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			ovary(1)|pancreas(1)	2	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CGTAACGCACTTCCGGCGGTC	0.587													C	39882040	T	C	39882040	3	2	30	1	0	0	0	0	1	0	0	0	9447	1609	56	3	43	3	MED29	19	39882040	Missense_Mutation	SNP	T	TCGA-BR-6455-01A-11D-1800-08	21461488	39882040	19246943	100	33217											
PHLDB3	653583	broad.mit.edu	37	chr19	43990419	43990419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgggggtgggactgaccGtgatggcaggaacagcaggg	22	7	0	2			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr19:43990419G>A	uc002own.3	-	13	1743	c.1484C>T	c.(1483-1485)ACG>ATG	p.T495M	PHLDB3_uc010eit.2_Missense_Mutation_p.T199M	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B,	495											0		Prostate(69;0.0153)				GGGACTGACCGTGATGGCAGG	0.567													A	43990419	G	A	43990419	3	1	30	1	0	0	0	0	1	0	0	0	11853	1159	40	1	454	1	PHLDB3	19	43990419	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	4108379	43990419	15138564	101	33218											
LIN7B	64130	broad.mit.edu	37	chr19	49619588	49619588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtggagctacccaagacGgatgagggcctaggcttcaa	14	9	1	2			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr19:49619588G>A	uc002pmp.2	+	4	341	c.297G>A	c.(295-297)ACG>ACA	p.T99T		NM_022165	NP_071448	Q9HAP6	LIN7B_HUMAN	lin-7 homolog B	99	PDZ.				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein domain specific binding				0		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01)		TACCCAAGACGGATGAGGGCC	0.607													A	49619588	G	A	49619588	2	1	30	1	0	0	0	0	0	0	0	1	8811	1103	39	1		1	LIN7B	19	49619588	Silent	SNP	G	TCGA-BR-6455-01A-11D-1800-08	5629169	49619588	9509395	102	33219											
ZNF610	162963	broad.mit.edu	37	chr19	52857558	52857558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgaagcaaaggagagagcCcttgattctgcaaagtcaag	12	7	2	3			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr19:52857558C>T	uc002pyx.3	+	5	651	c.245C>T	c.(244-246)CCC>CTC	p.P82L	ZNF610_uc002pyy.3_Missense_Mutation_p.P82L|ZNF610_uc002pyz.3_Intron|ZNF610_uc002pza.2_Missense_Mutation_p.P82L	NM_001161426	NP_001154898	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610 isoform a	82	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGGAGAGAGCCCTTGATTCTG	0.398													T	52857558	C	T	52857558	3	4	30	1	0	0	0	0	1	0	0	0	18033	623	22	4	255	4	ZNF610	19	52857558	Missense_Mutation	SNP	C	TCGA-BR-6455-01A-11D-1800-08	3237970	52857558	6271425	103	33220											
PPP1R12C	54776	broad.mit.edu	37	chr19	55606106	55606106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgctggggattcaggctcCggaatcctggagggaggcga	17	9	1	0			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr19:55606106C>T	uc002qix.2	-	12	1531	c.1515G>A	c.(1513-1515)CCG>CCA	p.P505P	PPP1R12C_uc010yfs.1_Silent_p.P431P|PPP1R12C_uc002qiy.2_Silent_p.P504P	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	505	Pro-rich.					cytoplasm				ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		ATTCAGGCTCCGGAATCCTGG	0.552													T	55606106	C	T	55606106	2	4	30	1	0	0	0	0	0	0	0	1	12356	639	23	1		1	PPP1R12C	19	55606106	Silent	SNP	C	TCGA-BR-6455-01A-11D-1800-08	2748548	55606106	3522877	104	33221											
BPI	671	broad.mit.edu	37	chr20	36932707	36932707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccgccgtgacagcggccGtcaaccctggcgtcgtggtc	14	16	1	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr20:36932707G>A	uc002xib.2	+	1	156	c.94G>A	c.(94-96)GTC>ATC	p.V32I		NM_001725	NP_001716	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	32					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			ovary(4)	4		Myeloproliferative disorder(115;0.00878)				GACAGCGGCCGTCAACCCTGG	0.607													A	36932707	G	A	36932707	3	1	30	1	0	0	0	0	1	0	0	0	1490	1145	40	1	96	1	BPI	20	36932707	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08		36932707	26092813	105	33222											
ARFGEF2	10564	broad.mit.edu	37	chr20	47589805	47589805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaagtggacatgagctggGaatgacacctctgcaggtaa	13	7	1	3			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr20:47589805G>A	uc002xtx.3	+	12	1801	c.1649G>A	c.(1648-1650)GGA>GAA	p.G550E		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	550					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CATGAGCTGGGAATGACACCT	0.289													A	47589805	G	A	47589805	3	1	30	1	0	0	0	0	1	0	0	0	853	1174	41	4	1695	4	ARFGEF2	20	47589805	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	10657098	47589805	15435715	106	33223											
CLDN14	23562	broad.mit.edu	37	chr21	37833744	37833744	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggcaggagatgaccaTgagggcgcgggcagcctgga	19	9	0	3			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr21:37833744T>C	uc002yvk.1	-	2	392	c.250A>G	c.(250-252)ATG>GTG	p.M84V	CLDN14_uc002yvn.1_Missense_Mutation_p.M84V|CLDN14_uc002yvo.1_Missense_Mutation_p.M84V|CLDN14_uc002yvl.1_Missense_Mutation_p.M84V|CLDN14_uc002yvm.1_Missense_Mutation_p.M84V	NM_012130	NP_036262	O95500	CLD14_HUMAN	claudin 14	84	Helical; (Potential).				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0						GAGATGACCATGAGGGCGCGG	0.652													C	37833744	T	C	37833744	3	2	30	1	0	0	0	0	1	0	0	0	3475	1464	51	3	473	3	CLDN14	21	37833744	Missense_Mutation	SNP	T	TCGA-BR-6455-01A-11D-1800-08		37833744	10296151	107	33224											
LSS	4047	broad.mit.edu	37	chr21	47636354	47636354	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcactcagccgaacggcGtagcagtagctcatgggcag	15	12	2	0	rs138974013		TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr21:47636354G>A	uc002zij.2	-	7	811	c.732C>T	c.(730-732)TAC>TAT	p.Y244Y	LSS_uc011afv.1_Silent_p.Y233Y|LSS_uc002zil.2_Silent_p.Y244Y|LSS_uc002zik.2_Silent_p.Y164Y	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	244					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					GCCGAACGGCGTAGCAGTAGC	0.652													A	47636354	G	A	47636354	2	1	30	1	0	0	0	0	0	0	0	1	9065	1140	40	1		1	LSS	21	47636354	Silent	SNP	G	TCGA-BR-6455-01A-11D-1800-08	9802610	47636354	493541	108	33225											
POLR2F	5435	broad.mit.edu	37	chr22	38352790	38352790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctgtacagttttgatggcGacgactttgatgatgtggag	13	6	0	3			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr22:38352790G>A	uc003aul.2	+	2	152	c.31G>A	c.(31-33)GAC>AAC	p.D11N	POLR2F_uc010gxi.2_5'UTR|POLR2F_uc003aum.2_RNA	NM_021974	NP_068809	P61218	RPAB2_HUMAN	DNA directed RNA polymerase II polypeptide F	11					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)	1	Melanoma(58;0.045)					TTTTGATGGCGACGACTTTGA	0.398													A	38352790	G	A	38352790	3	1	30	1	0	0	0	0	1	0	0	0	12219	1058	37	1	37	1	POLR2F	22	38352790	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08		38352790	12951776	109	33226											
C22orf40	150383	broad.mit.edu	37	chr22	46640993	46640993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagccccagttgcactcacGtccgagaaccgggctggctg	12	15	1	1	rs151250954		TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr22:46640993G>A	uc003bhe.2	-	4	409	c.368C>T	c.(367-369)ACG>ATG	p.T123M	C22orf40_uc003bhc.2_3'UTR|C22orf40_uc003bhd.2_Missense_Mutation_p.T118M|C22orf40_uc003bhf.2_RNA	NM_207327	NP_997210	Q6NVV7	CV040_HUMAN	hypothetical protein LOC150383	123											0						TTGCACTCACGTCCGAGAACC	0.612													A	46640993	G	A	46640993	3	1	30	1	0	0	0	0	1	0	0	0	2148	1145	40	1	7	1	C22orf40	22	46640993	Missense_Mutation	SNP	G	TCGA-BR-6455-01A-11D-1800-08	8288203	46640993	4663573	110	33227											
TUBGCP6	85378	broad.mit.edu	37	chr22	50682244	50682244	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggctgtgcacaagggccccGaagagcgagacccgggtgtc	16	13	0	2			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chr22:50682244G>A	uc003bkb.1	-	1	1157	c.645C>T	c.(643-645)TTC>TTT	p.F215F	TUBGCP6_uc010har.1_Silent_p.F215F|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hau.1_Silent_p.F215F	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	215					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAAGGGCCCCGAAGAGCGAGA	0.627													A	50682244	G	A	50682244	2	1	30	1	0	0	0	0	0	0	0	1	16767	1049	37	1		1	TUBGCP6	22	50682244	Silent	SNP	G	TCGA-BR-6455-01A-11D-1800-08	4041251	50682244	622322	111	33228											
CNKSR2	22866	broad.mit.edu	37	chrX	21627677	21627678	+	In_Frame_Ins	INS	-	-	GAG													aacccccagaggtggaggaaINSgaggaggaggaggaggagga							TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chrX:21627677_21627678insGAG	uc004czx.1	+	20	2670_2671	c.2634_2635insGAG	c.(2632-2637)insGAG	p.886_887insE	CNKSR2_uc004czw.2_In_Frame_Ins_p.886_887insE|CNKSR2_uc011mjn.1_In_Frame_Ins_p.837_838insE|CNKSR2_uc011mjo.1_In_Frame_Ins_p.856_857insE|CNKSR2_uc004czy.2_In_Frame_Ins_p.478_479insE	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	886_887	Potential.|Poly-Glu.				regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						aggtggaggaagaggaggagga	0.376													GAG	21627678	-	GAG	21627677	7	5	30	1	0	1	1	0	0	0	0	0	3607	69	3	0	2712	0	CNKSR2	23	21627677	In_Frame_Ins	INS	-	TCGA-BR-6455-01A-11D-1800-08		21627677	133642883	112	33229	113	2									
CNKSR2	22866	broad.mit.edu	37	chrX	21627678	21627679	+	In_Frame_Ins	INS	-	-	GAG													acccccagaggtggaggaagINSaggaggaggaggaggaggag							TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chrX:21627677_21627678A>AGAG	uc004czx.2	+	19	3114_3115	c.2634_2635A>AGAG	c.(2632-2637)gaagag>gaAGAGag	p.878_879EE>EE	CNKSR2_uc004czw.3_In_Frame_Ins_p.878_879EE>EE|CNKSR2_uc011mjn.2_In_Frame_Ins_p.829_830EE>EE|CNKSR2_uc011mjo.2_In_Frame_Ins_p.848_849EE>EE|CNKSR2_uc004czy.3_In_Frame_Ins_p.470_471EE>EE	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	878	Poly-Glu.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						aggtggaggaagaggaggagga	0.515													GAG	21627679	-	GAG	21627678	7	5	30	1	0	1	1	0	0	0	0	0	3607	943	33	0	2713	0	CNKSR2	23	21627678	In_Frame_Ins	INS	-	TCGA-BR-6455-01A-11D-1800-08	1	21627678	133642882	113	33230	113	2									
BCOR	54880	broad.mit.edu	37	chrX	39931763	39931763	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccatcatttgattcagcctCatcagctccatctttggtat	6	12	5	1			TCGA-BR-6455-01A-11D-1800-08	TCGA-BR-6455-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf3beb5-f999-4822-a0af-ec36f9510d58	db67ce76-e686-4298-a5c1-59638619e250	g.chrX:39931763C>A	uc004den.3	-	4	3128	c.2836G>T	c.(2836-2838)GAG>TAG	p.E946*	BCOR_uc004dep.3_Nonsense_Mutation_p.E946*|BCOR_uc004deo.3_Nonsense_Mutation_p.E946*|BCOR_uc004dem.3_Nonsense_Mutation_p.E946*|BCOR_uc004deq.3_Nonsense_Mutation_p.E946*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	946					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						GATTCAGCCTCATCAGCTCCA	0.488													A	39931763	C	A	39931763	4	1	30	1	0	0	0	0	0	1	0	0	1386	835	29	5	2479	5	BCOR	23	39931763	Nonsense_Mutation	SNP	C	TCGA-BR-6455-01A-11D-1800-08	18304085	39931763	115338797	114	33231											
ARID1A	8289	broad.mit.edu	37	chr1	27101266	27101266	+	Frame_Shift_Del	DEL	T	T	-													aacaggcagagcacgggctcTgccccccagggccccgccta							TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr1:27101265_27101265CT>C	uc001bmv.1	+	17	4920	c.4547_4547CT>C	c.(4546-4548)tctfs	p.S1516fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.S1515fs|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Frame_Shift_Del_p.S1133fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.S362fs|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1516					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGCACGGGCTCTGCCCCCCAG	0.592			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27101266	T	-	27101266	7	5	31	1	0	1	0	1	0	0	0	0	913	1567	55	0	4618	0	ARID1A	1	27101266	Frame_Shift_Del	DEL	T	TCGA-BR-6456-01A-11D-1800-08		27101266	222149355	1	33232											
MED8	112950	broad.mit.edu	37	chr1	43851858	43851858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgccaccaaggcattaGtgtctgtagggttaaaggtc	12	9	1	0			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr1:43851858G>A	uc001cjg.3	-	6	581	c.533C>T	c.(532-534)ACT>ATT	p.T178I	MED8_uc001cje.1_Missense_Mutation_p.T178I|MED8_uc001cjf.3_Missense_Mutation_p.T89I	NM_201542	NP_963836	Q96G25	MED8_HUMAN	mediator complex subunit 8 isoform 1	178					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAAGGCATTAGTGTCTGTAGG	0.542													A	43851858	G	A	43851858	3	1	31	1	0	0	0	0	1	0	0	0	9453	1029	36	4	388	4	MED8	1	43851858	Missense_Mutation	SNP	G	TCGA-BR-6456-01A-11D-1800-08	16750592	43851858	205398763	2	33233											
LY9	4063	broad.mit.edu	37	chr1	160783561	160783561	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggaccccaagggaaccccAtgcttctgagtccaatggag	11	13	1	1			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr1:160783561A>G	uc001fwu.2	+	3	640	c.590A>G	c.(589-591)CAT>CGT	p.H197R	LY9_uc010pjs.1_Missense_Mutation_p.H197R|LY9_uc001fwv.2_Missense_Mutation_p.H197R|LY9_uc001fww.2_Missense_Mutation_p.H197R|LY9_uc001fwx.2_Missense_Mutation_p.H197R|LY9_uc001fwy.1_Missense_Mutation_p.H99R|LY9_uc001fwz.2_5'Flank	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9 isoform a	197	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGGGAACCCCATGCTTCTGAG	0.542													G	160783561	A	G	160783561	3	3	31	1	0	0	0	0	1	0	0	0	9101	217	8	3	732	3	LY9	1	160783561	Missense_Mutation	SNP	A	TCGA-BR-6456-01A-11D-1800-08	116931703	160783561	88467060	3	33234											
PPP1R15B	84919	broad.mit.edu	37	chr1	204380537	204380537	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatccgcctgtccccggctcCatctcctttttcttgacagt	7	16	2	1			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr1:204380537C>G	uc001hav.3	-	1	408	c.3G>C	c.(1-3)ATG>ATC	p.M1I		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	1					regulation of translation					ovary(1)|pancreas(1)	2	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TCCCCGGCTCCATCTCCTTTT	0.642													G	204380537	C	G	204380537	3	3	31	1	0	0	0	0	1	0	0	0	12364	594	21	5	2146	5	PPP1R15B	1	204380537	Missense_Mutation	SNP	C	TCGA-BR-6456-01A-11D-1800-08	43596976	204380537	44870084	4	33235											
EXO1	9156	broad.mit.edu	37	chr1	242016726	242016726	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaaagtctcggaagctcgAgagtgtttcacccggtctat	13	9	3	1			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr1:242016726A>G	uc001hzh.2	+	6	888	c.348A>G	c.(346-348)CGA>CGG	p.R116R	EXO1_uc001hzi.2_Silent_p.R116R|EXO1_uc001hzj.2_Silent_p.R116R|EXO1_uc009xgq.2_Silent_p.R116R	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	116					meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CGGAAGCTCGAGAGTGTTTCA	0.423								Direct_reversal_of_damage|Editing_and_processing_nucleases					G	242016726	A	G	242016726	2	3	31	1	0	0	0	0	0	0	0	1	5300	291	11	3		3	EXO1	1	242016726	Silent	SNP	A	TCGA-BR-6456-01A-11D-1800-08	37636189	242016726	7233895	5	33236											
PXDN	7837	broad.mit.edu	37	chr2	1643143	1643143	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agctgaactcaagagaccgtCtgcctcggaaatgataggaa	11	9	2	3			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr2:1643143C>G	uc002qxa.2	-	20	4068	c.4004G>C	c.(4003-4005)AGA>ACA	p.R1335T		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1335					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AAGAGACCGTCTGCCTCGGAA	0.498													G	1643143	C	G	1643143	3	3	31	1	0	0	0	0	1	0	0	0	12847	913	32	5	451	5	PXDN	2	1643143	Missense_Mutation	SNP	C	TCGA-BR-6456-01A-11D-1800-08		1643143	241556230	6	33237											
SP100	6672	broad.mit.edu	37	chr2	231379989	231379989	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tatatccctcctaaaggggaGaaaaaaaagaagttcaagga	9	6	1	2			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr2:231379989G>T	uc002vqt.2	+	25	2415	c.2274G>T	c.(2272-2274)GAG>GAT	p.E758D	SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	758					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTAAAGGGGAGAAAAAAAAGA	0.418													T	231379989	G	T	231379989	3	4	31	1	0	0	0	0	1	0	0	0	14960	933	33	5	2372	5	SP100	2	231379989	Missense_Mutation	SNP	G	TCGA-BR-6456-01A-11D-1800-08	229736846	231379989	11819384	7	33238											
SCN11A	11280	broad.mit.edu	37	chr3	38941492	38941492	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaaaatgttccagcctcGgcgaaagtagtggtagggat	13	7	1	0			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr3:38941492G>A	uc011ays.1	-	13	2114	c.1915C>T	c.(1915-1917)CGA>TGA	p.R639*		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	639	II.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTCCAGCCTCGGCGAAAGTAG	0.418													A	38941492	G	A	38941492	4	1	31	1	0	0	0	0	0	1	0	0	13913	1124	39	1	3516	1	SCN11A	3	38941492	Nonsense_Mutation	SNP	G	TCGA-BR-6456-01A-11D-1800-08		38941492	159080938	8	33239											
HHATL	57467	broad.mit.edu	37	chr3	42735277	42735277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagctctgggatcacagcGgaatgctccccaccaatgtg	11	14	2	0			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr3:42735277G>A	uc003clw.2	-	11	1227	c.1080C>T	c.(1078-1080)TCC>TCT	p.S360S	HHATL_uc003clx.2_Silent_p.S360S	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	360					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GGATCACAGCGGAATGCTCCC	0.542													A	42735277	G	A	42735277	2	1	31	1	0	0	0	0	0	0	0	1	7090	1103	39	1		1	HHATL	3	42735277	Silent	SNP	G	TCGA-BR-6456-01A-11D-1800-08	3793785	42735277	155287153	9	33240											
IGSF11	152404	broad.mit.edu	37	chr3	118645024	118645024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggtcgaggaatgccttcCtctgagctacagagcaggat	13	9	1	2			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr3:118645024C>T	uc003ebw.2	-	4	751	c.504G>A	c.(502-504)GAG>GAA	p.E168E	IGSF11_uc011biv.1_Silent_p.E168E|IGSF11_uc003ebx.2_Silent_p.E168E|IGSF11_uc003eby.2_Silent_p.E167E|IGSF11_uc003ebz.2_Silent_p.E167E|IGSF11_uc010hqs.2_Silent_p.E167E	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	168	Ig-like C2-type.|Extracellular (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0						GAATGCCTTCCTCTGAGCTAC	0.488													T	118645024	C	T	118645024	2	4	31	1	0	0	0	0	0	0	0	1	7598	680	24	4		4	IGSF11	3	118645024	Silent	SNP	C	TCGA-BR-6456-01A-11D-1800-08	75909747	118645024	79377406	10	33241											
ARHGAP31	57514	broad.mit.edu	37	chr3	119112366	119112366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcaatatttaacctgggaCgttctggatcagactccaaa	7	9	3	1			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr3:119112366C>T	uc003ecj.3	+	8	1466	c.934C>T	c.(934-936)CGT>TGT	p.R312C		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	312					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						TAACCTGGGACGTTCTGGATC	0.393													T	119112366	C	T	119112366	3	4	31	1	0	0	0	0	1	0	0	0	880	536	19	1	964	1	ARHGAP31	3	119112366	Missense_Mutation	SNP	C	TCGA-BR-6456-01A-11D-1800-08	467342	119112366	78910064	11	33242											
TMCC1	23023	broad.mit.edu	37	chr3	129389972	129389972	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcttcaggatcttctgctGcaggtgagcaatggcagcct	13	10	3	1			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr3:129389972G>T	uc003emz.3	-	5	1213	c.712C>A	c.(712-714)CAG>AAG	p.Q238K	TMCC1_uc003emy.3_5'UTR|TMCC1_uc011blc.1_Missense_Mutation_p.Q59K|TMCC1_uc010htg.2_Missense_Mutation_p.Q124K	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	238	Potential.					integral to membrane				skin(1)	1						ATCTTCTGCTGCAGGTGAGCA	0.527													T	129389972	G	T	129389972	3	4	31	1	0	0	0	0	1	0	0	0	15989	1328	46	5	1261	5	TMCC1	3	129389972	Missense_Mutation	SNP	G	TCGA-BR-6456-01A-11D-1800-08	10277606	129389972	68632458	12	33243											
REST	5978	broad.mit.edu	37	chr4	57797479	57797479	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaagcctcctctccgaaaaGataaaaaggaaaagtctaac	6	9	2	1			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr4:57797479G>T	uc003hch.2	+	4	2802	c.2455G>T	c.(2455-2457)GAT>TAT	p.D819Y	REST_uc003hci.2_Missense_Mutation_p.D819Y|REST_uc010ihf.2_Missense_Mutation_p.D493Y	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	819					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Glioma(25;0.08)|all_neural(26;0.181)					TCTCCGAAAAGATAAAAAGGA	0.498													T	57797479	G	T	57797479	3	4	31	1	0	0	0	0	1	0	0	0	13234	942	33	5	2465	5	REST	4	57797479	Missense_Mutation	SNP	G	TCGA-BR-6456-01A-11D-1800-08		57797479	133356797	13	33244											
ADAMTS12	81792	broad.mit.edu	37	chr5	33561157	33561157	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagtttcccactttccagCcagcacagggacggaggtgg	12	13	0	0			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr5:33561157C>A	uc003jia.1	-	20	4263	c.4100G>T	c.(4099-4101)GGC>GTC	p.G1367V	ADAMTS12_uc010iuq.1_Missense_Mutation_p.G1282V	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1367					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						CACTTTCCAGCCAGCACAGGG	0.527										HNSCC(64;0.19)			A	33561157	C	A	33561157	3	1	31	1	0	0	0	0	1	0	0	0	257	739	26	5	704	5	ADAMTS12	5	33561157	Missense_Mutation	SNP	C	TCGA-BR-6456-01A-11D-1800-08		33561157	147354103	14	33245											
GPR98	84059	broad.mit.edu	37	chr5	89938526	89938526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttattttggaaaatgatgacCctgggggagtttttgaattt	11	3	0	3			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr5:89938526C>T	uc003kju.2	+	12	2410	c.2314C>T	c.(2314-2316)CCT>TCT	p.P772S	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	772	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAATGATGACCCTGGGGGAGT	0.388													T	89938526	C	T	89938526	3	4	31	1	0	0	0	0	1	0	0	0	6721	623	22	4	2360	4	GPR98	5	89938526	Missense_Mutation	SNP	C	TCGA-BR-6456-01A-11D-1800-08	56377369	89938526	90976734	15	33246											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712464	140712464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttagcgagcatgcccggttCgcactttgtgggcgtggacg	15	11	0	0			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr5:140712464C>T	uc003lji.1	+	1	2213	c.2213C>T	c.(2212-2214)TCG>TTG	p.S738L	PCDHGA1_uc011dan.1_Missense_Mutation_p.S738L	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	738	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCCGGTTCGCACTTTGTG	0.642													T	140712464	C	T	140712464	3	4	31	1	0	0	0	0	1	0	0	0	11550	893	31	1	2215	1	PCDHGA1	5	140712464	Missense_Mutation	SNP	C	TCGA-BR-6456-01A-11D-1800-08	50773938	140712464	40202796	16	33247											
GPRIN1	114787	broad.mit.edu	37	chr5	176026581	176026581	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaggctccctctggggccGtcagagcaggaggccccttc	14	16	2	1			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr5:176026581G>T	uc003meo.1	-	2	430	c.255C>A	c.(253-255)GAC>GAA	p.D85E		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	85						growth cone|plasma membrane				ovary(2)	2	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTGGGGCCGTCAGAGCAGG	0.657													T	176026581	G	T	176026581	3	4	31	1	0	0	0	0	1	0	0	0	6729	1136	40	5	2775	5	GPRIN1	5	176026581	Missense_Mutation	SNP	G	TCGA-BR-6456-01A-11D-1800-08	35314117	176026581	4888679	17	33248											
CDK14	5218	broad.mit.edu	37	chr7	90747439	90747439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagctggagaaagcatgCgggcctttgggaaaaacaat	13	7	0	2	rs145303395		TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr7:90747439C>T	uc003uky.2	+	14	1576	c.1354C>T	c.(1354-1356)CGG>TGG	p.R452W	CDK14_uc003ukz.1_Missense_Mutation_p.R434W|CDK14_uc010les.1_Missense_Mutation_p.R406W|CDK14_uc011khl.1_Missense_Mutation_p.R323W	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	452					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4						AGAAAGCATGCGGGCCTTTGG	0.393													T	90747439	C	T	90747439	3	4	31	1	0	0	0	0	1	0	0	0	3130	759	27	1	1350	1	CDK14	7	90747439	Missense_Mutation	SNP	C	TCGA-BR-6456-01A-11D-1800-08		90747439	68391224	18	33249											
CPSF4	10898	broad.mit.edu	37	chr7	99051673	99051674	+	Missense_Mutation	DNP	CC	CC	AA													ctcccaatcagcagagaaccCcgcaggtcatcggggtcatg							TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr7:99051673_99051674CC>AA	uc003uqj.2	+	7	798_799	c.655_656CC>AA	c.(655-657)CCG>AAG	p.P219K	PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Missense_Mutation_p.P194K|CPSF4_uc003uqk.2_Missense_Mutation_p.P193K|CPSF4_uc011kix.1_Missense_Mutation_p.P141K	NM_006693	NP_006684	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4,	219					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCAGAGAACCCCGCAGGTCATC	0.554													AA	99051674	CC	AA	99051673	3	1	31	1	0	0	0	0	1	0	0	0	3828	623	22	5	681	5	CPSF4	7	99051673	Missense_Mutation	DNP	CC	TCGA-BR-6456-01A-11D-1800-08	8304234	99051673	60086990	19	33250											
FAM110B	90362	broad.mit.edu	37	chr8	59059521	59059521	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccccgaggccgaccctgtGgaaccagcttgtggagtcag	13	14	1	0			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr8:59059521G>T	uc003xtj.1	+	5	1612	c.732G>T	c.(730-732)GTG>GTT	p.V244V		NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	244						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CCGACCCTGTGGAACCAGCTT	0.612													T	59059521	G	T	59059521	2	4	31	1	0	0	0	0	0	0	0	1	5397	1335	47	5		5	FAM110B	8	59059521	Silent	SNP	G	TCGA-BR-6456-01A-11D-1800-08		59059521	87304501	20	33251											
TG	7038	broad.mit.edu	37	chr8	133900554	133900554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagcaagatgtcttcccGgtgctgtcacaatacccttc	9	14	2	1	rs138731686		TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr8:133900554G>A	uc003ytw.2	+	10	2543	c.2502G>A	c.(2500-2502)CCG>CCA	p.P834P		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	834	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATGTCTTCCCGGTGCTGTCAC	0.522													A	133900554	G	A	133900554	2	1	31	1	0	0	0	0	0	0	0	1	15810	1103	39	1		1	TG	8	133900554	Silent	SNP	G	TCGA-BR-6456-01A-11D-1800-08	74841033	133900554	12463468	21	33252											
TNC	3371	broad.mit.edu	37	chr9	117808831	117808831	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agggttatttccagtggctcAgactgctttttggtatctct	10	8	2	1			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr9:117808831A>C	uc004bjj.3	-	17	5345	c.4983T>G	c.(4981-4983)TCT>TCG	p.S1661S	TNC_uc010mvf.2_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1661	Fibronectin type-III 12.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CCAGTGGCTCAGACTGCTTTT	0.468													C	117808831	A	C	117808831	2	2	31	1	0	0	0	0	0	0	0	1	16267	175	7	5		5	TNC	9	117808831	Silent	SNP	A	TCGA-BR-6456-01A-11D-1800-08		117808831	23404600	22	33253											
MTPAP	55149	broad.mit.edu	37	chr10	30615481	30615481	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtggtcaaggcactctccTaacacagacaggatcttctg	9	11	4	1			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr10:30615481T>G	uc001iva.3	-	5	927	c.864A>C	c.(862-864)TTA>TTC	p.L288F	MTPAP_uc001ivb.3_Missense_Mutation_p.L418F	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	PAP associated domain containing 1 precursor	288					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			ovary(1)	1						GGCACTCTCCTAACACAGACA	0.443													G	30615481	T	G	30615481	3	3	31	1	0	0	0	0	1	0	0	0	9956	1519	53	5	904	5	MTPAP	10	30615481	Missense_Mutation	SNP	T	TCGA-BR-6456-01A-11D-1800-08		30615481	104919266	23	33254											
CPN1	1369	broad.mit.edu	37	chr10	101829528	101829528	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggggcctccgtacttctcGttatagtagatataggtatt	10	7	1	1			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr10:101829528G>A	uc001kql.2	-	3	779	c.519C>T	c.(517-519)AAC>AAT	p.N173N		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	173	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CGTACTTCTCGTTATAGTAGA	0.478													A	101829528	G	A	101829528	2	1	31	1	0	0	0	0	0	0	0	1	3809	1136	40	1		1	CPN1	10	101829528	Silent	SNP	G	TCGA-BR-6456-01A-11D-1800-08	71214047	101829528	33705219	24	33255											
CKAP5	9793	broad.mit.edu	37	chr11	46799806	46799806	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acttcatctaggccttctttCctaatcttccaattcttatc	2	13	5	0			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr11:46799806C>A	uc001ndi.1	-	22	2741	c.2631G>T	c.(2629-2631)AGG>AGT	p.R877S	CKAP5_uc009ylg.1_Missense_Mutation_p.R763S|CKAP5_uc001ndj.1_Missense_Mutation_p.R877S	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	877	HEAT 5.				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						GGCCTTCTTTCCTAATCTTCC	0.358													A	46799806	C	A	46799806	3	1	31	1	0	0	0	0	1	0	0	0	3445	854	30	5	3559	5	CKAP5	11	46799806	Missense_Mutation	SNP	C	TCGA-BR-6456-01A-11D-1800-08		46799806	88206710	25	33256											
MMP20	9313	broad.mit.edu	37	chr11	102496027	102496027	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgaggaagacagcaagGccagatgcagggagcacctt	14	8	0	4			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr11:102496027G>A	uc001phc.2	-	1	37	c.24C>T	c.(22-24)GGC>GGT	p.G8G		NM_004771	NP_004762	O60882	MMP20_HUMAN	matrix metalloproteinase 20 preproprotein	8					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			urinary_tract(1)|skin(1)	2	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		AGACAGCAAGGCCAGATGCAG	0.562													A	102496027	G	A	102496027	2	1	31	1	0	0	0	0	0	0	0	1	9659	1190	42	2		2	MMP20	11	102496027	Silent	SNP	G	TCGA-BR-6456-01A-11D-1800-08	55696221	102496027	32510489	26	33257											
MMP8	4317	broad.mit.edu	37	chr11	102584178	102584178	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatcttggtccactgaagacAtggaagaaatctataaaaaa	7	6	2	3			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr11:102584178A>T	uc001phe.2	-	10	1404	c.1305T>A	c.(1303-1305)CAT>CAA	p.H435Q	MMP8_uc010rut.1_3'UTR|MMP8_uc010ruu.1_Missense_Mutation_p.H412Q	NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	435	Hemopexin-like 4.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		CACTGAAGACATGGAAGAAAT	0.353													T	102584178	A	T	102584178	3	4	31	1	0	0	0	0	1	0	0	0	9668	214	8	5	102	5	MMP8	11	102584178	Missense_Mutation	SNP	A	TCGA-BR-6456-01A-11D-1800-08	88151	102584178	32422338	27	33258											
DYNC2H1	79659	broad.mit.edu	37	chr11	103270478	103270478	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcatcattcttgaacaatttAatgctattcgtttagtacaa	4	7	3	1			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr11:103270478A>T	uc001pho.2	+	84	12388	c.12244A>T	c.(12244-12246)AAT>TAT	p.N4082Y	DYNC2H1_uc001phn.1_Missense_Mutation_p.N4089Y|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4082					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGAACAATTTAATGCTATTCG	0.373													T	103270478	A	T	103270478	3	4	31	1	0	0	0	0	1	0	0	0	4846	362	13	5	12603	5	DYNC2H1	11	103270478	Missense_Mutation	SNP	A	TCGA-BR-6456-01A-11D-1800-08	686300	103270478	31736038	28	33259											
FLI1	2313	broad.mit.edu	37	chr11	128680436	128680436	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agctgtatcacctgggagggGaccaacggggagttcaaaat	14	8	2	0			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr11:128680436G>T	uc010sbu.1	+	9	1253	c.912G>T	c.(910-912)GGG>GGT	p.G304G	FLI1_uc010sbt.1_Silent_p.G111G|FLI1_uc010sbv.1_Silent_p.G271G|FLI1_uc009zci.2_Silent_p.G238G	NM_002017	NP_002008	Q01543	FLI1_HUMAN	Friend leukemia virus integration 1	304	ETS.				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2266)	bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CCTGGGAGGGGACCAACGGGG	0.622			T	EWSR1	Ewing sarcoma								T	128680436	G	T	128680436	2	4	31	1	0	0	0	0	0	0	0	1	5924	1161	41	5		5	FLI1	11	128680436	Silent	SNP	G	TCGA-BR-6456-01A-11D-1800-08	25409958	128680436	6326080	29	33260											
LRRK2	120892	broad.mit.edu	37	chr12	40671789	40671789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatattccatcaaatgtctTccaatatcatggaacaaaag	4	8	3	0			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr12:40671789T>C	uc001rmg.3	+	17	2162	c.2041T>C	c.(2041-2043)TCC>CCC	p.S681P	LRRK2_uc001rmh.1_Missense_Mutation_p.S303P	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	681					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCAAATGTCTTCCAATATCAT	0.343													C	40671789	T	C	40671789	3	2	31	1	0	0	0	0	1	0	0	0	9033	1783	62	3	2107	3	LRRK2	12	40671789	Missense_Mutation	SNP	T	TCGA-BR-6456-01A-11D-1800-08		40671789	93180106	30	33261											
DBX2	440097	broad.mit.edu	37	chr12	45444623	45444623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcccaggttgccaaagcCgggcgcagcggggaggttga	17	11	0	1			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr12:45444623C>T	uc001rok.1	-	1	260	c.88G>A	c.(88-90)GGC>AGC	p.G30S		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	30						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		TTGCCAAAGCCGGGCGCAGCG	0.711													T	45444623	C	T	45444623	3	4	31	1	0	0	0	0	1	0	0	0	4260	652	23	1	947	1	DBX2	12	45444623	Missense_Mutation	SNP	C	TCGA-BR-6456-01A-11D-1800-08	4772834	45444623	88407272	31	33262											
FOXN4	121643	broad.mit.edu	37	chr12	109719324	109719324	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccatggcggggtgggggagCgggctggggctgaggtccgg	24	9	0	1			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr12:109719324C>A	uc001toe.3	-	9	1287	c.1182G>T	c.(1180-1182)CCG>CCT	p.P394P	FOXN4_uc009zvg.2_Silent_p.P191P|FOXN4_uc001tof.3_Silent_p.P214P	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	forkhead box N4	394					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)|lung(1)	2						GGTGGGGGAGCGGGCTGGGGC	0.647													A	109719324	C	A	109719324	2	1	31	1	0	0	0	0	0	0	0	1	6022	755	27	5		5	FOXN4	12	109719324	Silent	SNP	C	TCGA-BR-6456-01A-11D-1800-08	64274701	109719324	24132571	32	33263											
COL4A1	1282	broad.mit.edu	37	chr13	110861227	110861227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtccttgaaaacttaagCccatttgtccctgtggatta	8	9	0	1			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr13:110861227C>T	uc001vqw.3	-	12	784	c.662G>A	c.(661-663)GGC>GAC	p.G221D	COL4A1_uc010agl.2_Missense_Mutation_p.G221D	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	221	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAAACTTAAGCCCATTTGTCC	0.403													T	110861227	C	T	110861227	3	4	31	1	0	0	0	0	1	0	0	0	3689	739	26	2	4511	2	COL4A1	13	110861227	Missense_Mutation	SNP	C	TCGA-BR-6456-01A-11D-1800-08		110861227	4308651	33	33264											
VIPAR	63894	broad.mit.edu	37	chr14	77910667	77910668	+	Frame_Shift_Del	DEL	TC	TC	-													ttgtcctgtaaggagcggaaTctctctagtgagcaaacctg							TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr14:77910667_77910668delTC	uc001xtt.1	-	9	859_860	c.521_522delGA	c.(520-522)AGAfs	p.R174fs	VIPAR_uc001xtu.1_Frame_Shift_Del_p.R174fs|VIPAR_uc010tvj.1_Frame_Shift_Del_p.R125fs|VIPAR_uc001xtv.1_Frame_Shift_Del_p.R174fs	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	hypothetical protein LOC63894	174					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding			central_nervous_system(1)	1						AGGAGCGGAATCTCTCTAGTGA	0.391													-	77910668	TC	-	77910667	7	5	31	1	0	1	0	1	0	0	0	0	17165	1432	50	0	1011	0	VIPAR	14	77910667	Frame_Shift_Del	DEL	TC	TCGA-BR-6456-01A-11D-1800-08		77910667	29438873	34	33265											
SLC12A1	6557	broad.mit.edu	37	chr15	48527094	48527094	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcaatatttgcagaaaacTttgggccacgcttcacaaag	7	10	2	1			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr15:48527094T>G	uc001zwn.3	+	9	1324	c.1108T>G	c.(1108-1110)TTT>GTT	p.F370V	SLC12A1_uc010uew.1_Missense_Mutation_p.F176V|SLC12A1_uc010bem.2_Missense_Mutation_p.F370V|SLC12A1_uc010uex.1_Missense_Mutation_p.F370V|SLC12A1_uc001zwq.3_Missense_Mutation_p.F141V|SLC12A1_uc001zwr.3_Missense_Mutation_p.F97V	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	370					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGCAGAAAACTTTGGGCCACG	0.403													G	48527094	T	G	48527094	3	3	31	1	0	0	0	0	1	0	0	0	14382	1609	56	5	1238	5	SLC12A1	15	48527094	Missense_Mutation	SNP	T	TCGA-BR-6456-01A-11D-1800-08		48527094	54004298	35	33266											
SCNN1B	6338	broad.mit.edu	37	chr16	23366787	23366787	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgatcctggcctgcctattCggagctgagccctgcaacta	10	13	0	2			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr16:23366787C>T	uc002dln.2	+	4	929	c.753C>T	c.(751-753)TTC>TTT	p.F251F		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	251	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCTGCCTATTCGGAGCTGAGC	0.493													T	23366787	C	T	23366787	2	4	31	1	0	0	0	0	0	0	0	1	13928	883	31	1		1	SCNN1B	16	23366787	Silent	SNP	C	TCGA-BR-6456-01A-11D-1800-08		23366787	66987966	36	33267											
SLC5A2	6524	broad.mit.edu	37	chr16	31500611	31500611	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgttcttctgctctggcctCctcaccctcacggtctccct	6	19	6	0			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr16:31500611C>A	uc002ecf.3	+	12	1636	c.1617C>A	c.(1615-1617)CTC>CTA	p.L539L	SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA	NM_003041	NP_003032	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose	539	Helical; (Potential).				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			ovary(1)	1						GCTCTGGCCTCCTCACCCTCA	0.647													A	31500611	C	A	31500611	2	1	31	1	0	0	0	0	0	0	0	1	14665	842	30	5		5	SLC5A2	16	31500611	Silent	SNP	C	TCGA-BR-6456-01A-11D-1800-08	8133824	31500611	58854142	37	33268											
ALOX12	239	broad.mit.edu	37	chr17	6902654	6902654	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccagtgctggcaggatgatGagttgttcagctaccagttc	13	9	1	2			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr17:6902654G>A	uc002gdx.3	+	6	729	c.676G>A	c.(676-678)GAG>AAG	p.E226K		NM_000697	NP_000688	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	226	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			central_nervous_system(1)	1						GCAGGATGATGAGTTGTTCAG	0.552													A	6902654	G	A	6902654	3	1	31	1	0	0	0	0	1	0	0	0	536	1291	45	4	698	4	ALOX12	17	6902654	Missense_Mutation	SNP	G	TCGA-BR-6456-01A-11D-1800-08		6902654	74292556	38	33269											
TP53	7157	broad.mit.edu	37	chr17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccttccactcggataagaTgctgaggaggggccagacct	12	11	0	3			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr17:7578271T>C	uc002gim.2	-	6	772	c.578A>G	c.(577-579)CAT>CGT	p.H193R	TP53_uc002gig.1_Missense_Mutation_p.H193R|TP53_uc002gih.2_Missense_Mutation_p.H193R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61R|TP53_uc010cng.1_Missense_Mutation_p.H61R|TP53_uc002gii.1_Missense_Mutation_p.H61R|TP53_uc010cnh.1_Missense_Mutation_p.H193R|TP53_uc010cni.1_Missense_Mutation_p.H193R|TP53_uc002gij.2_Missense_Mutation_p.H193R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100R|TP53_uc002gio.2_Missense_Mutation_p.H61R|TP53_uc010vug.1_Missense_Mutation_p.H154R	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	193	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(67)|p.H193L(31)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.H193H(2)|p.P191fs*53(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H100L(1)|p.H61L(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCGGATAAGATGCTGAGGAGG	0.562		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C	7578271	T	C	7578271	3	2	31	1	0	0	0	0	1	0	0	0	16378	1464	51	3	716	3	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-BR-6456-01A-11D-1800-08	675617	7578271	73616939	39	33270											
NOS2	4843	broad.mit.edu	37	chr17	26105786	26105786	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagagcgaggccagcttgTgcgtttccaggcccattctc	11	14	1	1			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr17:26105786T>C	uc002gzu.2	-	11	1475	c.1211A>G	c.(1210-1212)CAC>CGC	p.H404R	NOS2_uc010crh.1_Missense_Mutation_p.H404R|NOS2_uc010wab.1_Missense_Mutation_p.H404R	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	404					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GGCCAGCTTGTGCGTTTCCAG	0.562													C	26105786	T	C	26105786	3	2	31	1	0	0	0	0	1	0	0	0	10543	1696	59	3	2318	3	NOS2	17	26105786	Missense_Mutation	SNP	T	TCGA-BR-6456-01A-11D-1800-08	18527515	26105786	55089424	40	33271											
TBXA2R	6915	broad.mit.edu	37	chr19	3600596	3600596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtaatgtttgtgggccGgaaacagggccccagggaac	16	9	0	0			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr19:3600596G>A	uc002lyg.1	-	2	251	c.37C>T	c.(37-39)CGG>TGG	p.R13W	TBXA2R_uc002lye.1_Missense_Mutation_p.R13W	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	13	Extracellular (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	TTTGTGGGCCGGAAACAGGGC	0.667													A	3600596	G	A	3600596	3	1	31	1	0	0	0	0	1	0	0	0	15660	1115	39	1	1247	1	TBXA2R	19	3600596	Missense_Mutation	SNP	G	TCGA-BR-6456-01A-11D-1800-08		3600596	55528387	41	33272											
SAFB	6294	broad.mit.edu	37	chr19	5654453	5654453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattagtgtaaaaacgtccGggtccaaagagagagtgagt	13	5	0	4	rs147202286		TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr19:5654453G>A	uc002mcf.2	+	13	1794	c.1741G>A	c.(1741-1743)GGG>AGG	p.G581R	SAFB_uc002mcg.2_Missense_Mutation_p.G581R|SAFB_uc002mce.3_Missense_Mutation_p.G581R|SAFB_uc010xir.1_Missense_Mutation_p.G581R|SAFB_uc010xis.1_Missense_Mutation_p.G512R|SAFB_uc010xit.1_Missense_Mutation_p.G424R|SAFB_uc010xiu.1_Missense_Mutation_p.G380R	NM_002967	NP_002958	Q15424	SAFB1_HUMAN	scaffold attachment factor B	581	Interaction with POLR2A.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			ovary(1)|liver(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		AAAAACGTCCGGGTCCAAAGA	0.413													A	5654453	G	A	5654453	3	1	31	1	0	0	0	0	1	0	0	0	13806	1116	39	1	1791	1	SAFB	19	5654453	Missense_Mutation	SNP	G	TCGA-BR-6456-01A-11D-1800-08	2053857	5654453	53474530	42	33273											
MUC16	94025	broad.mit.edu	37	chr19	9057759	9057759	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgggcactccataaaggactGcacttgtttctgtgattgag	11	8	1	2			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr19:9057759G>C	uc002mkp.2	-	3	29891	c.29687C>G	c.(29686-29688)GCA>GGA	p.A9896G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9898	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ATAAAGGACTGCACTTGTTTC	0.473													C	9057759	G	C	9057759	3	2	31	1	0	0	0	0	1	0	0	0	9973	1319	46	5	14164	5	MUC16	19	9057759	Missense_Mutation	SNP	G	TCGA-BR-6456-01A-11D-1800-08	3403306	9057759	50071224	43	33274											
FAM129C	199786	broad.mit.edu	37	chr19	17641671	17641671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggccctcaggagccgaccGgaagccagttgctacgcagc	14	14	1	0			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr19:17641671G>A	uc010xpr.1	+	3	394	c.256G>A	c.(256-258)GGA>AGA	p.G86R	FAM129C_uc010xpq.1_Missense_Mutation_p.G86R|FAM129C_uc010xps.1_Missense_Mutation_p.G55R|FAM129C_uc010xpt.1_Intron	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	B-cell novel protein 1 isoform a	86											0						GGAGCCGACCGGAAGCCAGTT	0.632													A	17641671	G	A	17641671	3	1	31	1	0	0	0	0	1	0	0	0	5438	1117	39	1	266	1	FAM129C	19	17641671	Missense_Mutation	SNP	G	TCGA-BR-6456-01A-11D-1800-08	8583912	17641671	41487312	44	33275											
MLL4	9757	broad.mit.edu	37	chr19	36229073	36229075	+	In_Frame_Del	DEL	AGA	AGA	-													ggtgttgactgacaagcgggAgaagttctacgatgggaagg							TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr19:36229073_36229075delAGA	uc010eei.2	+	37	7853_7855	c.7853_7855delAGA	c.(7852-7857)GAGAAG>GAG	p.K2619del		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2619	SET.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GACAAGCGGGAGAAGTTCTACGA	0.606													-	36229075	AGA	-	36229073	7	5	31	1	0	1	0	1	0	0	0	0	9623	304	11	0	7995	0	MLL4	19	36229073	In_Frame_Del	DEL	AGA	TCGA-BR-6456-01A-11D-1800-08	18587402	36229073	22899910	45	33276											
ZNF665	79788	broad.mit.edu	37	chr19	53669357	53669357	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcctgtttcctgcagcccttCtatcacgttgagctcttcta	7	14	4	1			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chr19:53669357C>T	uc010eqm.1	-	4	486	c.386G>A	c.(385-387)AGA>AAA	p.R129K		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		TGCAGCCCTTCTATCACGTTG	0.388													T	53669357	C	T	53669357	3	4	31	1	0	0	0	0	1	0	0	0	18070	913	32	4	1654	4	ZNF665	19	53669357	Missense_Mutation	SNP	C	TCGA-BR-6456-01A-11D-1800-08	17440284	53669357	5459626	46	33277											
P2RY8	286530	broad.mit.edu	37	chrX	1585140	1585140	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctggaatacatgtttgcGtaaaaggccacggtcaccac	10	10	1	0			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chrX:1585140G>A	uc004cpz.2	-	2	560	c.312C>T	c.(310-312)TAC>TAT	p.Y104Y		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	104	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACATGTTTGCGTAAAAGGCCA	0.587			T	CRLF2	B-ALL|Downs associated ALL								A	1585140	G	A	1585140	2	1	31	1	0	0	0	0	0	0	0	1	11355	1140	40	1		1	P2RY8	23	1585140	Silent	SNP	G	TCGA-BR-6456-01A-11D-1800-08		1585140	153685420	47	33278											
STARD8	9754	broad.mit.edu	37	chrX	67943490	67943490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accggatgggcaccccctgcGgctatggaaggcatccacag	13	14	0	0			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chrX:67943490G>A	uc004dxa.2	+	12	2954	c.2582G>A	c.(2581-2583)CGG>CAG	p.R861Q	STARD8_uc004dxb.2_Missense_Mutation_p.R941Q|STARD8_uc004dxc.3_Missense_Mutation_p.R861Q	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	861	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6						CACCCCCTGCGGCTATGGAAG	0.667													A	67943490	G	A	67943490	3	1	31	1	0	0	0	0	1	0	0	0	15262	1116	39	1	2872	1	STARD8	23	67943490	Missense_Mutation	SNP	G	TCGA-BR-6456-01A-11D-1800-08	66358350	67943490	87327070	48	33279											
RGAG1	57529	broad.mit.edu	37	chrX	109695526	109695526	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaccatggcctcaggaTtgacatctgcagcacagatg	11	10	2	3			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chrX:109695526T>C	uc004eor.1	+	3	1927	c.1681T>C	c.(1681-1683)TTG>CTG	p.L561L	RGAG1_uc011msr.1_Silent_p.L561L	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	561										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						GGCCTCAGGATTGACATCTGC	0.498													C	109695526	T	C	109695526	2	2	31	1	0	0	0	0	0	0	0	1	13274	1490	52	3		3	RGAG1	23	109695526	Silent	SNP	T	TCGA-BR-6456-01A-11D-1800-08	41752036	109695526	45575034	49	33280											
THOC2	57187	broad.mit.edu	37	chrX	122744807	122744807	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatctgtgcttgtccgaggActtatgagtagatgacaaat	10	6	1	3			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chrX:122744807A>G	uc004etu.2	-	38	4794	c.4762T>C	c.(4762-4764)TCC>CCC	p.S1588P	THOC2_uc004etv.3_RNA	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	1588	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						TTGTCCGAGGACTTATGAGTA	0.403													G	122744807	A	G	122744807	3	3	31	1	0	0	0	0	1	0	0	0	15862	275	10	3	23	3	THOC2	23	122744807	Missense_Mutation	SNP	A	TCGA-BR-6456-01A-11D-1800-08	13049281	122744807	32525753	50	33281											
GABRQ	55879	broad.mit.edu	37	chrX	151808925	151808925	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccgcctgagaccgaattttgGaggtaaggcatatccagaca	11	10	0	2			TCGA-BR-6456-01A-11D-1800-08	TCGA-BR-6456-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c612570a-881d-421f-98b9-0e4563133744	0adf6445-5470-4b30-923f-5028bdd471b3	g.chrX:151808925G>T	uc004ffp.1	+	2	256	c.236G>T	c.(235-237)GGA>GTA	p.G79V		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	79	Extracellular (Potential).					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CCGAATTTTGGAGGTAAGGCA	0.483													T	151808925	G	T	151808925	3	4	31	1	0	0	0	0	1	0	0	0	6175	1174	41	5	242	5	GABRQ	23	151808925	Missense_Mutation	SNP	G	TCGA-BR-6456-01A-11D-1800-08	29064118	151808925	3461635	51	33282											
CA6	765	broad.mit.edu	37	chr1	9009386	9009386	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggggccagagacagtcGcctatcaacctacagaggac	13	11	1	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr1:9009386G>A	uc001apm.2	+	2	168	c.144G>A	c.(142-144)TCG>TCA	p.S48S	CA6_uc009vmn.2_Intron	NM_001215	NP_001206	P23280	CAH6_HUMAN	carbonic anhydrase VI precursor	48					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			ovary(2)	2	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGACAGTCGCCTATCAACC	0.592													A	9009386	G	A	9009386	2	1	32	1	0	0	0	0	0	0	0	1	2521	1074	38	1		1	CA6	1	9009386	Silent	SNP	G	TCGA-BR-6457-01A-21D-1800-08		9009386	240241235	1	33283											
HSPG2	3339	broad.mit.edu	37	chr1	22188576	22188576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccaggggcacaaagctcGcagaactcccctgcggcgtt	12	14	0	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr1:22188576G>A	uc001bfj.2	-	38	4813	c.4773C>T	c.(4771-4773)TGC>TGT	p.C1591C	HSPG2_uc009vqd.2_Silent_p.C1592C	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	1591	Laminin EGF-like 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CACAAAGCTCGCAGAACTCCC	0.517													A	22188576	G	A	22188576	2	1	32	1	0	0	0	0	0	0	0	1	7430	1079	38	1		1	HSPG2	1	22188576	Silent	SNP	G	TCGA-BR-6457-01A-21D-1800-08	13179190	22188576	227062045	2	33284											
MYOM3	127294	broad.mit.edu	37	chr1	24418800	24418800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccccggggttctcggcctCggcatctgaaacccgggggt	16	14	2	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr1:24418800C>T	uc001bin.3	-	11	1259	c.1096G>A	c.(1096-1098)GAG>AAG	p.E366K	MYOM3_uc001bim.3_Missense_Mutation_p.E23K|MYOM3_uc001bio.2_Missense_Mutation_p.E366K|MYOM3_uc001bip.1_Missense_Mutation_p.E23K	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	366										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TTCTCGGCCTCGGCATCTGAA	0.637													T	24418800	C	T	24418800	3	4	32	1	0	0	0	0	1	0	0	0	10093	893	31	1	3325	1	MYOM3	1	24418800	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	2230224	24418800	224831821	3	33285											
KLF17	128209	broad.mit.edu	37	chr1	44595138	44595138	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcactttcctcacagcgcAgagatgctggggtccccttt	10	14	1	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr1:44595138A>C	uc001clp.2	+	2	253	c.195A>C	c.(193-195)GCA>GCC	p.A65A	KLF17_uc009vxf.1_Silent_p.A28A	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	zinc finger protein 393	65					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					CTCACAGCGCAGAGATGCTGG	0.557													C	44595138	A	C	44595138	2	2	32	1	0	0	0	0	0	0	0	1	8345	175	7	5		5	KLF17	1	44595138	Silent	SNP	A	TCGA-BR-6457-01A-21D-1800-08	20176338	44595138	204655483	4	33286											
C8A	731	broad.mit.edu	37	chr1	57347266	57347266	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actatggagatgatgagaaaTactttcggaaaccctacaac	8	8	0	3			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr1:57347266T>C	uc001cyo.2	+	5	745	c.613T>C	c.(613-615)TAC>CAC	p.Y205H		NM_000562	NP_000553	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	205	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				ovary(1)|central_nervous_system(1)|skin(1)	3						TGATGAGAAATACTTTCGGAA	0.488													C	57347266	T	C	57347266	3	2	32	1	0	0	0	0	1	0	0	0	2416	1406	49	3	631	3	C8A	1	57347266	Missense_Mutation	SNP	T	TCGA-BR-6457-01A-21D-1800-08	12752128	57347266	191903355	5	33287											
LPHN2	23266	broad.mit.edu	37	chr1	82302724	82302724	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttatcattgtaatcagcTtcttaccaaatacagaaggt	7	7	3	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr1:82302724T>G	uc001dit.3	+	3	236	c.55T>G	c.(55-57)TTC>GTC	p.F19V	LPHN2_uc001dis.2_Missense_Mutation_p.F19V|LPHN2_uc001diu.2_Missense_Mutation_p.F19V|LPHN2_uc001div.2_Missense_Mutation_p.F19V|LPHN2_uc009wcd.2_Missense_Mutation_p.F19V	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	19					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGTAATCAGCTTCTTACCAAA	0.328													G	82302724	T	G	82302724	3	3	32	1	0	0	0	0	1	0	0	0	8916	1609	56	5	57	5	LPHN2	1	82302724	Missense_Mutation	SNP	T	TCGA-BR-6457-01A-21D-1800-08	24955458	82302724	166947897	6	33288											
WNT2B	7482	broad.mit.edu	37	chr1	113058897	113058897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgacaccatgaccagcGtggggactttgactggggtg	16	10	0	2	rs35058556	byFrequency	TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr1:113058897G>A	uc001ecb.2	+	3	1054	c.539G>A	c.(538-540)CGT>CAT	p.R180H	WNT2B_uc001eca.2_Missense_Mutation_p.R161H|WNT2B_uc009wgg.2_Missense_Mutation_p.R88H	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family,	180					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			ovary(2)|breast(2)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATGACCAGCGTGGGGACTTT	0.587													A	113058897	G	A	113058897	3	1	32	1	0	0	0	0	1	0	0	0	17384	1145	40	1	682	1	WNT2B	1	113058897	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	30756173	113058897	136191724	7	33289											
FLG2	388698	broad.mit.edu	37	chr1	152327633	152327633	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccagagtattgacctgagcTtgacctgtgttgtccaaagc	11	10	0	4	rs144938115		TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr1:152327633T>A	uc001ezw.3	-	3	2702	c.2629A>T	c.(2629-2631)AGC>TGC	p.S877C	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	877	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCTGAGCTTGACCTGTGT	0.502													A	152327633	T	A	152327633	3	1	32	1	0	0	0	0	1	0	0	0	5923	1609	56	5	4550	5	FLG2	1	152327633	Missense_Mutation	SNP	T	TCGA-BR-6457-01A-21D-1800-08	39268736	152327633	96922988	8	33290											
C1orf156	92342	broad.mit.edu	37	chr1	169762277	169762277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccaagacttttttcccaGcaaatttcactttggccttt	5	11	1	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr1:169762277G>A	uc001ggn.2	-	2	838	c.560C>T	c.(559-561)GCT>GTT	p.A187V	C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_5'Flank|uc010plt.1_5'Flank|C1orf112_uc001ggp.2_5'Flank|C1orf112_uc001ggq.2_5'Flank|C1orf112_uc009wvt.2_5'Flank	NM_033418	NP_219486	O95568	MET18_HUMAN	hypothetical protein MGC9084	187						cytoplasm	protein methyltransferase activity				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTTTTTCCCAGCAAATTTCAC	0.398													A	169762277	G	A	169762277	3	1	32	1	0	0	0	0	1	0	0	0	2006	971	34	2	562	2	C1orf156	1	169762277	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	17434644	169762277	79488344	9	33291											
OBSCN	84033	broad.mit.edu	37	chr1	228437778	228437778	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcccagacagaggtgacGtggtacaaggacgggaagaa	16	8	0	4			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr1:228437778G>A	uc009xez.1	+	14	4190	c.4146G>A	c.(4144-4146)ACG>ACA	p.T1382T	OBSCN_uc001hsn.2_Silent_p.T1382T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1382	Ig-like 14.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CAGAGGTGACGTGGTACAAGG	0.642													A	228437778	G	A	228437778	2	1	32	1	0	0	0	0	0	0	0	1	10812	1132	40	1		1	OBSCN	1	228437778	Silent	SNP	G	TCGA-BR-6457-01A-21D-1800-08	58675501	228437778	20812843	10	33292											
SIPA1L2	57568	broad.mit.edu	37	chr1	232581434	232581434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgggcacccggtgccacGtggtgttcctcctgaagggg	17	11	0	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr1:232581434G>A	uc001hvg.2	-	9	3352	c.3194C>T	c.(3193-3195)ACG>ATG	p.T1065M	SIPA1L2_uc001hvf.2_Missense_Mutation_p.T139M	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1065					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCGGTGCCACGTGGTGTTCCT	0.637													A	232581434	G	A	232581434	3	1	32	1	0	0	0	0	1	0	0	0	14330	1145	40	1	2026	1	SIPA1L2	1	232581434	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	4143656	232581434	16669187	11	33293											
LGALS8	3964	broad.mit.edu	37	chr1	236708103	236708103	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggatattgctctacacttgaAcccacgcctgaatattaaag	7	10	1	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr1:236708103A>T	uc001hxz.1	+	10	1073	c.692A>T	c.(691-693)AAC>ATC	p.N231I	LGALS8_uc001hxw.1_Missense_Mutation_p.N273I|LGALS8_uc001hxy.1_Missense_Mutation_p.N273I|LGALS8_uc009xgg.1_RNA|LGALS8_uc001hya.1_Missense_Mutation_p.N231I|LGALS8_uc001hyb.1_Missense_Mutation_p.N231I|LGALS8_uc001hyc.1_Missense_Mutation_p.N214I	NM_201543	NP_963837	O00214	LEG8_HUMAN	galectin-8 isoform b	231	Galectin 2.					cytoplasm|extracellular space	sugar binding			ovary(1)	1	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTACACTTGAACCCACGCCTG	0.358													T	236708103	A	T	236708103	3	4	32	1	0	0	0	0	1	0	0	0	8747	43	2	5	852	5	LGALS8	1	236708103	Missense_Mutation	SNP	A	TCGA-BR-6457-01A-21D-1800-08	4126669	236708103	12542518	12	33294											
FMN2	56776	broad.mit.edu	37	chr1	240555838	240555838	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaagaggcagaggaaaAttcactgacagagactcata	10	8	2	5			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr1:240555838A>C	uc010pyd.1	+	15	5111	c.4886A>C	c.(4885-4887)AAT>ACT	p.N1629T	FMN2_uc010pye.1_Missense_Mutation_p.N1633T|FMN2_uc010pyf.1_Missense_Mutation_p.N244T|FMN2_uc010pyg.1_Missense_Mutation_p.N225T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1629	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCAGAGGAAAATTCACTGACA	0.343													C	240555838	A	C	240555838	3	2	32	1	0	0	0	0	1	0	0	0	5950	101	4	5	4944	5	FMN2	1	240555838	Missense_Mutation	SNP	A	TCGA-BR-6457-01A-21D-1800-08	3847735	240555838	8694783	13	33295											
OR2T12	127064	broad.mit.edu	37	chr1	248457994	248457994	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaccgtttcagggcttccTtgacctcactgttcctcaca	7	16	3	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr1:248457994T>G	uc010pzj.1	-	1	887	c.887A>C	c.(886-888)AAG>ACG	p.K296T		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CAGGGCTTCCTTGACCTCACT	0.473													G	248457994	T	G	248457994	3	3	32	1	0	0	0	0	1	0	0	0	11019	1609	56	5	78	5	OR2T12	1	248457994	Missense_Mutation	SNP	T	TCGA-BR-6457-01A-21D-1800-08	7902156	248457994	792627	14	33296											
OR2M7	391196	broad.mit.edu	37	chr1	248487429	248487429	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtagagcccaggatccaggAgaaggcagtcataagtccac	12	10	1	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr1:248487429A>G	uc010pzk.1	-	1	442	c.442T>C	c.(442-444)TCC>CCC	p.S148P		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	148	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGATCCAGGAGAAGGCAGTC	0.473													G	248487429	A	G	248487429	3	3	32	1	0	0	0	0	1	0	0	0	11014	304	11	3	499	3	OR2M7	1	248487429	Missense_Mutation	SNP	A	TCGA-BR-6457-01A-21D-1800-08	29435	248487429	763192	15	33297											
PXDN	7837	broad.mit.edu	37	chr2	1652393	1652393	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcattgatgccggggtcGtagccgtggtactctcccag	13	13	1	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr2:1652393G>A	uc002qxa.2	-	17	3223	c.3159C>T	c.(3157-3159)TAC>TAT	p.Y1053Y		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1053					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGCCGGGGTCGTAGCCGTGGT	0.617													A	1652393	G	A	1652393	2	1	32	1	0	0	0	0	0	0	0	1	12847	1140	40	1		1	PXDN	2	1652393	Silent	SNP	G	TCGA-BR-6457-01A-21D-1800-08		1652393	241546980	16	33298											
TMEM131	23505	broad.mit.edu	37	chr2	98392446	98392446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttcctcttgcttcttagGtggtttcaccttgcgctgaa	8	11	3	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr2:98392446G>A	uc002syh.3	-	32	4409	c.4180C>T	c.(4180-4182)CCT>TCT	p.P1394S		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1394	Lys-rich.					integral to membrane				ovary(4)|central_nervous_system(2)	6						TGCTTCTTAGGTGGTTTCACC	0.378													A	98392446	G	A	98392446	3	1	32	1	0	0	0	0	1	0	0	0	16041	1261	44	4	1511	4	TMEM131	2	98392446	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	96740053	98392446	144806927	17	33299											
CPS1	1373	broad.mit.edu	37	chr2	211465372	211465372	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatggctacggaagacaggcAgctgttttcagataaactaa	10	7	1	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr2:211465372A>C	uc002vee.3	+	15	1775	c.1643A>C	c.(1642-1644)CAG>CCG	p.Q548P	CPS1_uc010fur.2_Missense_Mutation_p.Q554P|CPS1_uc010fus.2_Missense_Mutation_p.Q97P	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	548					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GAAGACAGGCAGCTGTTTTCA	0.408													C	211465372	A	C	211465372	3	2	32	1	0	0	0	0	1	0	0	0	3823	188	7	5	1723	5	CPS1	2	211465372	Missense_Mutation	SNP	A	TCGA-BR-6457-01A-21D-1800-08	113072926	211465372	31734001	18	33300											
ACSL3	2181	broad.mit.edu	37	chr2	223773557	223773557	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ataccatcaaccctattcttTtatattttatacattttcta	0	9	3	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr2:223773557T>A	uc002vni.2	+	4	518	c.67T>A	c.(67-69)TTA>ATA	p.L23I	ACSL3_uc002vnj.2_Missense_Mutation_p.L23I	NM_004457	NP_004448	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	23	Helical; Signal-anchor for type III membrane protein; (Potential).				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			ovary(2)	2		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	CCCTATTCTTTTATATTTTAT	0.289			T	ETV1	prostate								A	223773557	T	A	223773557	3	1	32	1	0	0	0	0	1	0	0	0	178	1838	64	5	69	5	ACSL3	2	223773557	Missense_Mutation	SNP	T	TCGA-BR-6457-01A-21D-1800-08	12308185	223773557	19425816	19	33301											
DOCK10	55619	broad.mit.edu	37	chr2	225688336	225688336	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtccaattcattttggtaaGattcaggaaatctctgaggc	9	7	3	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr2:225688336G>T	uc010fwz.1	-	28	3304	c.3065C>A	c.(3064-3066)TCT>TAT	p.S1022Y	DOCK10_uc002vob.2_Missense_Mutation_p.S1016Y	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1022							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ATTTTGGTAAGATTCAGGAAA	0.408													T	225688336	G	T	225688336	3	4	32	1	0	0	0	0	1	0	0	0	4685	942	33	5	3611	5	DOCK10	2	225688336	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	1914779	225688336	17511037	20	33302											
PFKFB4	5210	broad.mit.edu	37	chr3	48587369	48587369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaggtcttgaccacgtccCggcgatactggccaacattg	11	12	1	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr3:48587369C>T	uc003ctv.2	-	3	256	c.239G>A	c.(238-240)CGG>CAG	p.R80Q	PFKFB4_uc003ctw.2_5'UTR|PFKFB4_uc010hkc.2_Missense_Mutation_p.R80Q|PFKFB4_uc003ctx.2_Missense_Mutation_p.R37Q|PFKFB4_uc010hkb.2_Missense_Mutation_p.R80Q|PFKFB4_uc011bbm.1_Missense_Mutation_p.R69Q|PFKFB4_uc011bbn.1_RNA	NM_004567	NP_004558	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,	80	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GACCACGTCCCGGCGATACTG	0.517													T	48587369	C	T	48587369	3	4	32	1	0	0	0	0	1	0	0	0	11763	652	23	1	1218	1	PFKFB4	3	48587369	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08		48587369	149435061	21	33303											
QARS	5859	broad.mit.edu	37	chr3	49139687	49139687	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtctgtttcttctagccgAgcttttgccacctgaaagaa	9	11	3	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr3:49139687A>C	uc003cvx.2	-	7	587	c.582T>G	c.(580-582)GCT>GCG	p.A194A	QARS_uc011bcc.1_5'Flank|QARS_uc011bcd.1_Silent_p.A49A|QARS_uc003cvy.2_Silent_p.A49A|QARS_uc011bce.1_Silent_p.A183A|QARS_uc011bcf.1_Silent_p.A194A	NM_005051	NP_005042	P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	194					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CTTCTAGCCGAGCTTTTGCCA	0.507													C	49139687	A	C	49139687	2	2	32	1	0	0	0	0	0	0	0	1	12871	291	11	5		5	QARS	3	49139687	Silent	SNP	A	TCGA-BR-6457-01A-21D-1800-08	552318	49139687	148882743	22	33304											
VPRBP	9730	broad.mit.edu	37	chr3	51457862	51457862	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagaaataagatggtttcgTatcaacaaaagcagctcttt	7	6	2	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr3:51457862T>C	uc003dbe.1	-	14	2730	c.2562A>G	c.(2560-2562)ATA>ATG	p.I854M	VPRBP_uc003dbf.1_Missense_Mutation_p.I130M	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	854	LisH.				interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GATGGTTTCGTATCAACAAAA	0.478													C	51457862	T	C	51457862	3	2	32	1	0	0	0	0	1	0	0	0	17182	1628	57	3	2005	3	VPRBP	3	51457862	Missense_Mutation	SNP	T	TCGA-BR-6457-01A-21D-1800-08	2318175	51457862	146564568	23	33305											
SNTN	132203	broad.mit.edu	37	chr3	63638466	63638466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgcacctaggaaaatgCccaaaaggtcagtggcactt	10	12	1	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr3:63638466C>T	uc003dlr.2	+	1	123	c.103C>T	c.(103-105)CCC>TCC	p.P35S		NM_001080537	NP_001074006	A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	35						cilium	calcium ion binding			ovary(1)	1						TAGGAAAATGCCCAAAAGGTC	0.453													T	63638466	C	T	63638466	3	4	32	1	0	0	0	0	1	0	0	0	14876	739	26	2	105	2	SNTN	3	63638466	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	12180604	63638466	134383964	24	33306											
ARL13B	200894	broad.mit.edu	37	chr3	93758757	93758757	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggagcaggctgaactcgaTggaaccagtggtctggctga	15	9	1	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr3:93758757T>G	uc003drc.2	+	6	1009	c.723T>G	c.(721-723)GAT>GAG	p.D241E	ARL13B_uc010hop.2_Missense_Mutation_p.D92E|ARL13B_uc003drd.2_Missense_Mutation_p.D134E|ARL13B_uc003dre.2_Missense_Mutation_p.D226E|ARL13B_uc003drf.2_Missense_Mutation_p.D241E|ARL13B_uc003drg.2_Missense_Mutation_p.D138E	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 2-like 1 isoform 1	241	Potential.						GTP binding				0						CTGAACTCGATGGAACCAGTG	0.393													G	93758757	T	G	93758757	3	3	32	1	0	0	0	0	1	0	0	0	929	1461	51	5	745	5	ARL13B	3	93758757	Missense_Mutation	SNP	T	TCGA-BR-6457-01A-21D-1800-08	30120291	93758757	104263673	25	33307											
MRPL47	57129	broad.mit.edu	37	chr3	179311560	179311560	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttaactacataccagatgaTtcttccaaagatgtctcttc	5	10	2	3			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr3:179311560T>G	uc003fjz.2	-	5	548	c.526A>C	c.(526-528)ATC>CTC	p.I176L	MRPL47_uc003fka.2_Missense_Mutation_p.I66L|MRPL47_uc003fkb.2_Missense_Mutation_p.I156L	NM_020409	NP_065142	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47 isoform a	176					translation	mitochondrial ribosome	structural constituent of ribosome				0	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TACCAGATGATTCTTCCAAAG	0.413													G	179311560	T	G	179311560	3	3	32	1	0	0	0	0	1	0	0	0	9811	1493	52	5	238	5	MRPL47	3	179311560	Missense_Mutation	SNP	T	TCGA-BR-6457-01A-21D-1800-08	85552803	179311560	18710870	26	33308											
EVC	2121	broad.mit.edu	37	chr4	5733156	5733156	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctactgccaccccagcctcTggccgatggctcctccaacc	7	21	1	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr4:5733156T>C	uc003gil.1	+	4	573	c.389T>C	c.(388-390)CTG>CCG	p.L130P	EVC_uc003gim.1_RNA	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	130					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				CCCCAGCCTCTGGCCGATGGC	0.542													C	5733156	T	C	5733156	3	2	32	1	0	0	0	0	1	0	0	0	5285	1580	55	3	403	3	EVC	4	5733156	Missense_Mutation	SNP	T	TCGA-BR-6457-01A-21D-1800-08		5733156	185421120	27	33309											
LDB2	9079	broad.mit.edu	37	chr4	16587554	16587554	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attgatcttaccctgaggtaGttgagggtgaagtttgttag	13	4	1	4			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr4:16587554G>C	uc003goz.2	-	5	922	c.606C>G	c.(604-606)AAC>AAG	p.N202K	LDB2_uc003gpa.2_Missense_Mutation_p.N202K|LDB2_uc003gpb.2_Missense_Mutation_p.N202K|LDB2_uc011bxh.1_Intron|LDB2_uc010iee.2_Missense_Mutation_p.N202K|LDB2_uc003goy.2_Missense_Mutation_p.N78K|LDB2_uc011bxi.1_Missense_Mutation_p.N78K	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	202							LIM domain binding|transcription cofactor activity				0						CCCTGAGGTAGTTGAGGGTGA	0.408													C	16587554	G	C	16587554	3	2	32	1	0	0	0	0	1	0	0	0	8696	1020	36	5	640	5	LDB2	4	16587554	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	10854398	16587554	174566722	28	33310											
SPATA18	132671	broad.mit.edu	37	chr4	52926960	52926960	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cattttaggaggacgtaatgAtggtgtggaaacaatcaagt	12	4	1	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr4:52926960A>T	uc003gzl.2	+	3	484	c.206A>T	c.(205-207)GAT>GTT	p.D69V	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.D69V|SPATA18_uc003gzk.1_Missense_Mutation_p.D69V	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	69					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GGACGTAATGATGGTGTGGAA	0.294													T	52926960	A	T	52926960	3	4	32	1	0	0	0	0	1	0	0	0	15002	333	12	5	216	5	SPATA18	4	52926960	Missense_Mutation	SNP	A	TCGA-BR-6457-01A-21D-1800-08	36339406	52926960	138227316	29	33311											
KDR	3791	broad.mit.edu	37	chr4	55968591	55968591	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgtggagggggattcccaGatgccgtgcatgagacttcg	15	9	1	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr4:55968591G>T	uc003has.2	-	14	2374	c.2072C>A	c.(2071-2073)TCT>TAT	p.S691Y	KDR_uc003hat.1_Missense_Mutation_p.S691Y	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	691	Ig-like C2-type 7.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GGGATTCCCAGATGCCGTGCA	0.468			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			T	55968591	G	T	55968591	3	4	32	1	0	0	0	0	1	0	0	0	8139	942	33	5	2066	5	KDR	4	55968591	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	3041631	55968591	135185685	30	33312											
KIAA1109	84162	broad.mit.edu	37	chr4	123252486	123252486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttctttctgtagacataCgtctcgtaaaaaagcaacag	7	8	3	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr4:123252486C>T	uc003ieh.2	+	65	11300	c.11255C>T	c.(11254-11256)ACG>ATG	p.T3752M	KIAA1109_uc003iem.2_Missense_Mutation_p.T143M	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3752					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TGTAGACATACGTCTCGTAAA	0.373													T	123252486	C	T	123252486	3	4	32	1	0	0	0	0	1	0	0	0	8208	536	19	1	11513	1	KIAA1109	4	123252486	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	67283895	123252486	67901790	31	33313											
FAT4	79633	broad.mit.edu	37	chr4	126241072	126241072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggagtctcttatgaggcGgagagggactgctgtgttta	16	6	1	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr4:126241072G>A	uc003ifj.3	+	1	3506	c.3506G>A	c.(3505-3507)CGG>CAG	p.R1169Q		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1169	Cadherin 11.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CTTATGAGGCGGAGAGGGACT	0.453													A	126241072	G	A	126241072	3	1	32	1	0	0	0	0	1	0	0	0	5692	1116	39	1	3508	1	FAT4	4	126241072	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	2988586	126241072	64913204	32	33314											
ZNF827	152485	broad.mit.edu	37	chr4	146806888	146806888	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagatgtcctggctgaacaaTgctgacgcactgttggccac	12	11	0	3			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr4:146806888T>C	uc003ikn.2	-	4	1737	c.1689A>G	c.(1687-1689)GCA>GCG	p.A563A	ZNF827_uc003ikm.2_Silent_p.A563A|ZNF827_uc010iox.2_Silent_p.A213A	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					GGCTGAACAATGCTGACGCAC	0.458													C	146806888	T	C	146806888	2	2	32	1	0	0	0	0	0	0	0	1	18177	1451	51	3		3	ZNF827	4	146806888	Silent	SNP	T	TCGA-BR-6457-01A-21D-1800-08	20565816	146806888	44347388	33	33315											
NPY1R	4886	broad.mit.edu	37	chr4	164246633	164246633	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgcaagtctctctggaagTttttgttcaggaacccataa	8	9	3	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr4:164246633T>G	uc003iqm.1	-	3	1243	c.977A>C	c.(976-978)AAC>ACC	p.N326T	NPY1R_uc011cjj.1_Missense_Mutation_p.N83T	NM_000909	NP_000900	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	326	Cytoplasmic (Potential).				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			lung(1)|pancreas(1)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCTCTGGAAGTTTTTGTTCAG	0.428													G	164246633	T	G	164246633	3	3	32	1	0	0	0	0	1	0	0	0	10608	1725	60	5	181	5	NPY1R	4	164246633	Missense_Mutation	SNP	T	TCGA-BR-6457-01A-21D-1800-08	17439745	164246633	26907643	34	33316											
PRDM9	56979	broad.mit.edu	37	chr5	23522743	23522743	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attgtgagatgtgtcagaacTtcttcattgacagctgtgct	10	7	3	3			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr5:23522743T>G	uc003jgo.2	+	8	813	c.631T>G	c.(631-633)TTC>GTC	p.F211V		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	211					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						GTGTCAGAACTTCTTCATTGA	0.498										HNSCC(3;0.000094)			G	23522743	T	G	23522743	3	3	32	1	0	0	0	0	1	0	0	0	12463	1609	56	5	657	5	PRDM9	5	23522743	Missense_Mutation	SNP	T	TCGA-BR-6457-01A-21D-1800-08		23522743	157392517	35	33317											
ERBB2IP	55914	broad.mit.edu	37	chr5	65288677	65288678	+	Missense_Mutation	DNP	TT	TT	AC													tccgaaagagatttttacttTtgaaaaaaccttggaggaac							TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr5:65288677_65288678TT>AC	uc003juk.1	+	3	439_440	c.131_132TT>AC	c.(130-132)TTT>TAC	p.F44Y	ERBB2IP_uc003juh.1_Missense_Mutation_p.F44Y|ERBB2IP_uc003jui.1_Missense_Mutation_p.F44Y|ERBB2IP_uc003juj.1_Missense_Mutation_p.F44Y|ERBB2IP_uc011cqx.1_Missense_Mutation_p.F44Y|ERBB2IP_uc011cqy.1_Missense_Mutation_p.F44Y|ERBB2IP_uc011cqz.1_Missense_Mutation_p.F44Y|ERBB2IP_uc010iwx.1_Missense_Mutation_p.F44Y|ERBB2IP_uc003jul.1_Missense_Mutation_p.F44Y	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	44	LRR 1.				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ATTTTTACTTTTGAAAAAACCT	0.361													AC	65288678	TT	AC	65288677	3	1	32	1	0	0	0	0	1	0	0	0	5207	1841	64	5	133	5	ERBB2IP	5	65288677	Missense_Mutation	DNP	TT	TCGA-BR-6457-01A-21D-1800-08	41765934	65288677	115626583	36	33318											
GPR98	84059	broad.mit.edu	37	chr5	89954028	89954028	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggaagaaaatactactgcaaGattaacaatacaaaaaagtg	7	5	0	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr5:89954028G>T	uc003kju.2	+	21	4781	c.4685G>T	c.(4684-4686)AGA>ATA	p.R1562I	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1562	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACTACTGCAAGATTAACAATA	0.363													T	89954028	G	T	89954028	3	4	32	1	0	0	0	0	1	0	0	0	6721	942	33	5	4767	5	GPR98	5	89954028	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	24665351	89954028	90961232	37	33319											
FAM81B	153643	broad.mit.edu	37	chr5	94764400	94764400	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccattcaagaattcgtgccCgccctggaaactctttccaa	7	14	2	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr5:94764400C>T	uc003kla.1	+	6	796	c.750C>T	c.(748-750)CCC>CCT	p.P250P	FAM81B_uc010jbe.1_Silent_p.P46P	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	hypothetical protein LOC153643	250										ovary(1)|skin(1)	2		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AATTCGTGCCCGCCCTGGAAA	0.408													T	94764400	C	T	94764400	2	4	32	1	0	0	0	0	0	0	0	1	5629	639	23	1		1	FAM81B	5	94764400	Silent	SNP	C	TCGA-BR-6457-01A-21D-1800-08	4810372	94764400	86150860	38	33320											
SLC25A46	91137	broad.mit.edu	37	chr5	110097216	110097216	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtctttgttctgacgttataCtttacccattggaaacagtt	7	8	2	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr5:110097216C>G	uc003koz.2	+	8	1058	c.991C>G	c.(991-993)CTT>GTT	p.L331V	SLC25A46_uc011cvi.1_Missense_Mutation_p.L240V	NM_138773	NP_620128	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	331	Solcar 2.|Helical; Name=5; (Potential).				transport	integral to membrane|mitochondrial inner membrane					0		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		TGACGTTATACTTTACCCATT	0.423													G	110097216	C	G	110097216	3	3	32	1	0	0	0	0	1	0	0	0	14511	565	20	5	1021	5	SLC25A46	5	110097216	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	15332816	110097216	70818044	39	33321											
ZNF300	91975	broad.mit.edu	37	chr5	150275190	150275190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatgaattcgctggtgtccCggaaggtgggacttctgaga	15	7	1	2	rs140923053		TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr5:150275190C>T	uc003lsy.1	-	6	1878	c.1611G>A	c.(1609-1611)CCG>CCA	p.P537P	IRGM_uc011dcl.1_Intron	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	zinc finger protein 300	537	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGGTGTCCCGGAAGGTGGG	0.428													T	150275190	C	T	150275190	2	4	32	1	0	0	0	0	0	0	0	1	17828	639	23	1		1	ZNF300	5	150275190	Silent	SNP	C	TCGA-BR-6457-01A-21D-1800-08	40177974	150275190	30640070	40	33322											
DUSP22	56940	broad.mit.edu	37	chr6	345906	345906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacgagtgccggctccgcGgtgagagctgccttgtacac	13	13	1	1	rs148279164		TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr6:345906G>A	uc003msx.2	+	5	680	c.241G>A	c.(241-243)GGT>AGT	p.G81S	DUSP22_uc011dhn.1_Missense_Mutation_p.G81S|DUSP22_uc003msy.1_Missense_Mutation_p.G38S	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	81	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CCGGCTCCGCGGTGAGAGCTG	0.438													A	345906	G	A	345906	3	1	32	1	0	0	0	0	1	0	0	0	4821	1116	39	1	259	1	DUSP22	6	345906	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08		345906	170769161	41	33323											
NUP153	9972	broad.mit.edu	37	chr6	17629488	17629488	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaagaaagtccaaacttaAaattatcattcttactatct	3	8	3	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr6:17629488A>C	uc003ncd.1	-	18	3142	c.2942T>G	c.(2941-2943)TTT>TGT	p.F981C	NUP153_uc011dje.1_Missense_Mutation_p.F1012C|NUP153_uc010jpl.1_Missense_Mutation_p.F939C	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	981					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TCCAAACTTAAAATTATCATT	0.323													C	17629488	A	C	17629488	3	2	32	1	0	0	0	0	1	0	0	0	10755	14	1	5	1505	5	NUP153	6	17629488	Missense_Mutation	SNP	A	TCGA-BR-6457-01A-21D-1800-08	17283582	17629488	153485579	42	33324											
C6orf134	79969	broad.mit.edu	37	chr6	30610778	30610778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggcagcccagctcaacgtCgtcgcaccaggtaataggag	14	12	1	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr6:30610778C>T	uc003nqu.2	+	10	1008	c.958C>T	c.(958-960)CGT>TGT	p.R320C	C6orf134_uc003nqr.3_Missense_Mutation_p.R320C|C6orf134_uc003rdc.2_Missense_Mutation_p.R320C|C6orf134_uc003nqs.3_Missense_Mutation_p.R297C|C6orf134_uc003rdd.2_Missense_Mutation_p.R297C|C6orf134_uc003nqt.2_Intron|C6orf134_uc011dmm.1_Missense_Mutation_p.R285C|C6orf134_uc003nqv.2_Missense_Mutation_p.R308C	NM_024909	NP_079185	Q5SQI0	ATAT_HUMAN	hypothetical protein LOC79969 isoform 2	320							tubulin N-acetyltransferase activity				0						AGCTCAACGTCGTCGCACCAG	0.572													T	30610778	C	T	30610778	3	4	32	1	0	0	0	0	1	0	0	0	2330	884	31	1	996	1	C6orf134	6	30610778	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	12981290	30610778	140504289	43	33325											
BRD2	6046	broad.mit.edu	37	chr6	32945244	32945244	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatggagaaccgtgattaccGggatgcacaggagtttgctg	15	7	0	2	rs141044200		TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr6:32945244G>T	uc003ocn.3	+	8	2927	c.1226G>T	c.(1225-1227)CGG>CTG	p.R409L	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Missense_Mutation_p.R409L|BRD2_uc003ocp.3_Missense_Mutation_p.R289L|BRD2_uc010juh.2_Missense_Mutation_p.R409L	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	409	Bromo 2.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CGTGATTACCGGGATGCACAG	0.522													T	32945244	G	T	32945244	3	4	32	1	0	0	0	0	1	0	0	0	1502	1116	39	5	1252	5	BRD2	6	32945244	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	2334466	32945244	138169823	44	33326											
KCNK5	8645	broad.mit.edu	37	chr6	39159379	39159379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctcaaaggactccttccGtcgccgccgccgcttcttaa	8	17	2	0	rs150380866	byFrequency	TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr6:39159379G>A	uc003oon.2	-	5	1151	c.787C>T	c.(787-789)CGG>TGG	p.R263W		NM_003740	NP_003731	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	263	Cytoplasmic (Potential).				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						GACTCCTTCCGTCGCCGCCGC	0.562													A	39159379	G	A	39159379	3	1	32	1	0	0	0	0	1	0	0	0	8069	1144	40	1	716	1	KCNK5	6	39159379	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	6214135	39159379	131955688	45	33327											
UTRN	7402	broad.mit.edu	37	chr6	144811268	144811268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagttgagaagaaatatgcGttctcagcccctgacctccc	10	12	1	3	rs151173089		TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr6:144811268G>A	uc003qkt.2	+	30	4288	c.4196G>A	c.(4195-4197)CGT>CAT	p.R1399H		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1399	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGAAATATGCGTTCTCAGCCC	0.473													A	144811268	G	A	144811268	3	1	32	1	0	0	0	0	1	0	0	0	17100	1145	40	1	4314	1	UTRN	6	144811268	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	105651889	144811268	26303799	46	33328											
PPIL4	85313	broad.mit.edu	37	chr6	149826767	149826767	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttctgagttcggtctctcTtttcactcttttgtttctcc	7	11	6	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr6:149826767T>C	uc003qmo.1	-	13	1331	c.1301A>G	c.(1300-1302)AAG>AGG	p.K434R	PPIL4_uc010kic.2_Intron	NM_139126	NP_624311	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase-like 4	434					protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TCGGTCTCTCTTTTCACTCTT	0.398													C	149826767	T	C	149826767	3	2	32	1	0	0	0	0	1	0	0	0	12329	1609	56	3	181	3	PPIL4	6	149826767	Missense_Mutation	SNP	T	TCGA-BR-6457-01A-21D-1800-08	5015499	149826767	21288300	47	33329											
LPA	4018	broad.mit.edu	37	chr6	161010612	161010612	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtattctgtggttctcTgatgccagtgtggtgtcata	13	6	3	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr6:161010612T>C	uc003qtl.2	-	25	4040	c.3920A>G	c.(3919-3921)CAG>CGG	p.Q1307R		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3815	Kringle 34.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGTGGTTCTCTGATGCCAGTG	0.473													C	161010612	T	C	161010612	3	2	32	1	0	0	0	0	1	0	0	0	8903	1580	55	3	2266	3	LPA	6	161010612	Missense_Mutation	SNP	T	TCGA-BR-6457-01A-21D-1800-08	11183845	161010612	10104455	48	33330											
GLI3	2737	broad.mit.edu	37	chr7	42004616	42004616	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttggtagatgttgatgtgtGaggtagcactaatctgccca	12	7	1	3			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr7:42004616G>T	uc011kbh.1	-	15	4146	c.4055C>A	c.(4054-4056)TCA>TAA	p.S1352*	GLI3_uc011kbg.1_Nonsense_Mutation_p.S1293*	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1352					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GTTGATGTGTGAGGTAGCACT	0.647									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42004616	G	T	42004616	4	4	32	1	0	0	0	0	0	1	0	0	6439	1294	45	5	691	5	GLI3	7	42004616	Nonsense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08		42004616	117134047	49	33331											
POLD2	5425	broad.mit.edu	37	chr7	44157562	44157562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcgctgacctcccgcaGgatggagggctgcagcggca	14	15	0	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr7:44157562G>A	uc010kxz.2	-	4	972	c.322C>T	c.(322-324)CTG>TTG	p.L108L	POLD2_uc003tke.3_Silent_p.L108L|POLD2_uc010kya.2_Silent_p.L108L|POLD2_uc003tkf.3_Silent_p.L108L	NM_006230	NP_006221	P49005	DPOD2_HUMAN	DNA-directed DNA polymerase delta 2	108					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			ovary(2)	2						ACCTCCCGCAGGATGGAGGGC	0.632													A	44157562	G	A	44157562	2	1	32	1	0	0	0	0	0	0	0	1	12191	991	35	4		4	POLD2	7	44157562	Silent	SNP	G	TCGA-BR-6457-01A-21D-1800-08	2152946	44157562	114981101	50	33332											
SLC13A1	6561	broad.mit.edu	37	chr7	122765669	122765669	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcagtgtcttagctgggatAagaaagaatagcagccctat	11	7	2	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr7:122765669A>G	uc003vkm.2	-	11	1219	c.1194T>C	c.(1192-1194)CTT>CTC	p.L398L	SLC13A1_uc010lks.2_Silent_p.L274L	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	398	Helical; (Potential).					integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)	TAGCTGGGATAAGAAAGAATA	0.333													G	122765669	A	G	122765669	2	3	32	1	0	0	0	0	0	0	0	1	14391	349	13	3		3	SLC13A1	7	122765669	Silent	SNP	A	TCGA-BR-6457-01A-21D-1800-08	78608107	122765669	36372994	51	33333											
OR2F1	26211	broad.mit.edu	37	chr7	143657178	143657178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcatgtatgtggtgaccGtgctggggaactgtctcatt	14	7	2	1	rs141187562	byFrequency	TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr7:143657178G>A	uc003wds.1	+	1	159	c.115G>A	c.(115-117)GTG>ATG	p.V39M		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F,	39	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	Melanoma(164;0.0903)					TGTGGTGACCGTGCTGGGGAA	0.522													A	143657178	G	A	143657178	3	1	32	1	0	0	0	0	1	0	0	0	10996	1145	40	1	117	1	OR2F1	7	143657178	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	20891509	143657178	15481485	52	33334											
MLL3	58508	broad.mit.edu	37	chr7	151932911	151932911	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcctcaccccaggtaaTacaacagctccgattccact	6	16	1	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr7:151932911T>C	uc003wla.2	-	16	2979	c.2760A>G	c.(2758-2760)GTA>GTG	p.V920V	MLL3_uc003wkz.2_5'UTR	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	920					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CCCCAGGTAATACAACAGCTC	0.453			N		medulloblastoma								C	151932911	T	C	151932911	2	2	32	1	0	0	0	0	0	0	0	1	9622	1393	49	3		3	MLL3	7	151932911	Silent	SNP	T	TCGA-BR-6457-01A-21D-1800-08	8275733	151932911	7205752	53	33335											
CSMD1	64478	broad.mit.edu	37	chr8	3200843	3200843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgagttgaaaaccttggtCggtgtcagatccattggtgt	14	6	1	3			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr8:3200843C>T	uc011kwk.1	-	23	3997	c.3607G>A	c.(3607-3609)GAC>AAC	p.D1203N	CSMD1_uc011kwj.1_Missense_Mutation_p.D595N|CSMD1_uc003wqe.2_Missense_Mutation_p.D359N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1203	Extracellular (Potential).|CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAACCTTGGTCGGTGTCAGAT	0.408													T	3200843	C	T	3200843	3	4	32	1	0	0	0	0	1	0	0	0	3944	884	31	1	7282	1	CSMD1	8	3200843	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08		3200843	143163179	54	33336											
PRSS55	203074	broad.mit.edu	37	chr8	10396212	10396212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaaacctatgggctcccCagtctcgggagtcccagagc	11	14	1	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr8:10396212C>T	uc003wta.2	+	5	983	c.968C>T	c.(967-969)CCA>CTA	p.P323L	uc010lru.2_Intron|PRSS55_uc003wtb.2_Intron	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	hypothetical protein LOC203074 precursor	323	Extracellular (Potential).				proteolysis	integral to membrane	serine-type endopeptidase activity			ovary(1)	1						ATGGGCTCCCCAGTCTCGGGA	0.517													T	10396212	C	T	10396212	3	4	32	1	0	0	0	0	1	0	0	0	12634	594	21	4	986	4	PRSS55	8	10396212	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	7195369	10396212	135967810	55	33337											
DLC1	10395	broad.mit.edu	37	chr8	13258989	13258989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagctcacaggaacgtgcCgccgcaggtttgttggtgtg	15	9	1	0	rs150701452		TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr8:13258989C>T	uc003wwm.2	-	3	1607	c.1163G>A	c.(1162-1164)CGG>CAG	p.R388Q	DLC1_uc003wwn.2_Missense_Mutation_p.R388Q|DLC1_uc011kxy.1_Missense_Mutation_p.R388Q	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	388					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						AGGAACGTGCCGCCGCAGGTT	0.483													T	13258989	C	T	13258989	3	4	32	1	0	0	0	0	1	0	0	0	4550	652	23	1	3572	1	DLC1	8	13258989	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	2862777	13258989	133105033	56	33338											
TUSC3	7991	broad.mit.edu	37	chr8	15480646	15480646	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagttccagacgctcaatcTtccgaatgaatggtgataaa	10	8	2	3			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr8:15480646T>G	uc003wwt.2	+	2	406	c.196T>G	c.(196-198)TTC>GTC	p.F66V	TUSC3_uc003wwr.2_Missense_Mutation_p.F66V|TUSC3_uc003wws.2_Missense_Mutation_p.F66V|TUSC3_uc003wwu.2_Missense_Mutation_p.F66V|TUSC3_uc003wwv.2_Missense_Mutation_p.F66V|TUSC3_uc003www.2_Missense_Mutation_p.F66V|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.F66V	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	66					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		ACGCTCAATCTTCCGAATGAA	0.388													G	15480646	T	G	15480646	3	3	32	1	0	0	0	0	1	0	0	0	16775	1609	56	5	202	5	TUSC3	8	15480646	Missense_Mutation	SNP	T	TCGA-BR-6457-01A-21D-1800-08	2221657	15480646	130883376	57	33339											
ZMAT4	79698	broad.mit.edu	37	chr8	40625183	40625183	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctgaccggagcctcttggCaggacaccctccatccctgg	10	16	2	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr8:40625183C>A	uc003xnr.2	-	3	315	c.169G>T	c.(169-171)GCC>TCC	p.A57S	ZMAT4_uc003xns.2_Missense_Mutation_p.A57S	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	zinc finger, matrin type 4 isoform a	57						nucleus	DNA binding|zinc ion binding			pancreas(1)|central_nervous_system(1)|skin(1)	3	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			AGCCTCTTGGCAGGACACCCT	0.453													A	40625183	C	A	40625183	3	1	32	1	0	0	0	0	1	0	0	0	17691	710	25	5	540	5	ZMAT4	8	40625183	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	25144537	40625183	105738839	58	33340											
RP1	6101	broad.mit.edu	37	chr8	55541424	55541424	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcaggtttgtccttataattCtgtggaatttcagtgttcca	8	7	3	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr8:55541424C>G	uc003xsd.1	+	4	5130	c.4982C>G	c.(4981-4983)TCT>TGT	p.S1661C	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1661					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTTATAATTCTGTGGAATTT	0.388													G	55541424	C	G	55541424	3	3	32	1	0	0	0	0	1	0	0	0	13532	913	32	5	4992	5	RP1	8	55541424	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	14916241	55541424	90822598	59	33341											
FAM82B	51115	broad.mit.edu	37	chr8	87491204	87491204	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagcattttagcaattcttCtttgataccaaggcatttcg	6	9	2	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr8:87491204C>T	uc003ydu.2	-	7	837	c.677G>A	c.(676-678)AGA>AAA	p.R226K	FAM82B_uc011lfz.1_Missense_Mutation_p.R196K|FAM82B_uc011lga.1_Missense_Mutation_p.R196K	NM_016033	NP_057117	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	226	TPR 2.					microtubule|spindle pole	binding			ovary(1)	1						AGCAATTCTTCTTTGATACCA	0.348													T	87491204	C	T	87491204	3	4	32	1	0	0	0	0	1	0	0	0	5632	913	32	4	283	4	FAM82B	8	87491204	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	31949780	87491204	58872818	60	33342											
SDC2	6383	broad.mit.edu	37	chr8	97614693	97614693	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagatactgttgactagTgctgctccaaaagtggaaac	9	9	0	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr8:97614693T>G	uc003yhv.1	+	3	861	c.243T>G	c.(241-243)AGT>AGG	p.S81R	SDC2_uc011lgu.1_Missense_Mutation_p.S52R	NM_002998	NP_002989	P34741	SDC2_HUMAN	syndecan 2 precursor	81	Extracellular (Potential).					integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding			ovary(2)	2	Breast(36;3.41e-05)				Sargramostim(DB00020)	TGTTGACTAGTGCTGCTCCAA	0.438													G	97614693	T	G	97614693	3	3	32	1	0	0	0	0	1	0	0	0	13952	1693	59	5	253	5	SDC2	8	97614693	Missense_Mutation	SNP	T	TCGA-BR-6457-01A-21D-1800-08	10123489	97614693	48749329	61	33343											
ANGPT1	284	broad.mit.edu	37	chr8	108306233	108306233	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgatgttgtattacagtccaAcctcccccattgacatccat	5	14	0	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr8:108306233A>T	uc003ymn.2	-	6	1437	c.969T>A	c.(967-969)GGT>GGA	p.G323G	ANGPT1_uc011lhv.1_Silent_p.G123G|ANGPT1_uc003ymo.2_Silent_p.G322G|ANGPT1_uc003ymp.3_Silent_p.G122G	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	323	Fibrinogen C-terminal.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTACAGTCCAACCTCCCCCAT	0.343													T	108306233	A	T	108306233	2	4	32	1	0	0	0	0	0	0	0	1	610	30	2	5		5	ANGPT1	8	108306233	Silent	SNP	A	TCGA-BR-6457-01A-21D-1800-08	10691540	108306233	38057789	62	33344											
CSMD3	114788	broad.mit.edu	37	chr8	113317004	113317004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtaccattaggaagacattCgatggaggcaggacctagtc	12	8	0	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr8:113317004C>T	uc003ynu.2	-	52	8371	c.8212G>A	c.(8212-8214)GAA>AAA	p.E2738K	CSMD3_uc003yns.2_Missense_Mutation_p.E1940K|CSMD3_uc003ynt.2_Missense_Mutation_p.E2698K|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2738	Extracellular (Potential).|Sushi 16.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GGAAGACATTCGATGGAGGCA	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113317004	C	T	113317004	3	4	32	1	0	0	0	0	1	0	0	0	3946	893	31	1	2991	1	CSMD3	8	113317004	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	5010771	113317004	33047018	63	33345											
CSMD3	114788	broad.mit.edu	37	chr8	113318286	113318286	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccatgttccatctgattggCatacagctgtagtgagttct	9	9	2	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr8:113318286C>A	uc003ynu.2	-	51	8180	c.8021G>T	c.(8020-8022)TGC>TTC	p.C2674F	CSMD3_uc003yns.2_Missense_Mutation_p.C1876F|CSMD3_uc003ynt.2_Missense_Mutation_p.C2634F|CSMD3_uc011lhx.1_Missense_Mutation_p.C2570F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2674	Extracellular (Potential).|Sushi 15.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ATCTGATTGGCATACAGCTGT	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113318286	C	A	113318286	3	1	32	1	0	0	0	0	1	0	0	0	3946	710	25	5	3186	5	CSMD3	8	113318286	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	1282	113318286	33045736	64	33346											
CSMD3	114788	broad.mit.edu	37	chr8	113323373	113323373	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atatatccatgaggtggggaTtctggtgtactacagtagaa	12	5	1	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr8:113323373T>G	uc003ynu.2	-	50	7878	c.7719A>C	c.(7717-7719)GAA>GAC	p.E2573D	CSMD3_uc003yns.2_Missense_Mutation_p.E1775D|CSMD3_uc003ynt.2_Missense_Mutation_p.E2533D|CSMD3_uc011lhx.1_Missense_Mutation_p.E2469D|CSMD3_uc003ynw.1_Missense_Mutation_p.E284D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2573	Extracellular (Potential).|Sushi 14.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GAGGTGGGGATTCTGGTGTAC	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113323373	T	G	113323373	3	3	32	1	0	0	0	0	1	0	0	0	3946	1490	52	5	3492	5	CSMD3	8	113323373	Missense_Mutation	SNP	T	TCGA-BR-6457-01A-21D-1800-08	5087	113323373	33040649	65	33347											
ADCY8	114	broad.mit.edu	37	chr8	132052057	132052057	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatttgcgcctttggcccaAgaaatagcgctggtagaggc	13	10	0	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr8:132052057A>C	uc003ytd.3	-	1	779	c.523T>G	c.(523-525)TTG>GTG	p.L175V	ADCY8_uc010mds.2_Missense_Mutation_p.L175V	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	175	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTTTGGCCCAAGAAATAGCGC	0.547										HNSCC(32;0.087)			C	132052057	A	C	132052057	3	2	32	1	0	0	0	0	1	0	0	0	300	69	3	5	3304	5	ADCY8	8	132052057	Missense_Mutation	SNP	A	TCGA-BR-6457-01A-21D-1800-08	18728684	132052057	14311965	66	33348											
NFKBIL2	4796	broad.mit.edu	37	chr8	145661049	145661049	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatacccaccaagggctGgcctgccgcagagctgtccc	11	17	0	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr8:145661049G>A	uc011llg.1	-	17	2782	c.2767C>T	c.(2767-2769)CAG>TAG	p.Q923*	uc011llh.1_Intron	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	923					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			ACCAAGGGCTGGCCTGCCGCA	0.677													A	145661049	G	A	145661049	4	1	32	1	0	0	0	0	0	1	0	0	10382	1357	47	4	1409	4	NFKBIL2	8	145661049	Nonsense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	13608992	145661049	702973	67	33349											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18657714	18657714	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccaccgatggagggagacGgatttctttccttgctcagc	11	11	2	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr9:18657714G>A	uc003zne.3	+	8	1039	c.912G>A	c.(910-912)ACG>ACA	p.T304T	ADAMTSL1_uc003znb.2_Silent_p.T304T|ADAMTSL1_uc003znc.3_Silent_p.T304T	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	304						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		GGAGGGAGACGGATTTCTTTC	0.463													A	18657714	G	A	18657714	2	1	32	1	0	0	0	0	0	0	0	1	274	1103	39	1		1	ADAMTSL1	9	18657714	Silent	SNP	G	TCGA-BR-6457-01A-21D-1800-08		18657714	122555717	68	33350											
UNC13B	10497	broad.mit.edu	37	chr9	35375189	35375189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgcacttctcttaaggaCgaagagctggtaagtgtccc	10	11	1	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr9:35375189C>T	uc003zwq.2	+	13	1651	c.1359C>T	c.(1357-1359)GAC>GAT	p.D453D	UNC13B_uc003zwr.2_Silent_p.D453D	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	453					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CTCTTAAGGACGAAGAGCTGG	0.498													T	35375189	C	T	35375189	2	4	32	1	0	0	0	0	0	0	0	1	16982	535	19	1		1	UNC13B	9	35375189	Silent	SNP	C	TCGA-BR-6457-01A-21D-1800-08	16717475	35375189	105838242	69	33351											
C9orf84	158401	broad.mit.edu	37	chr9	114462251	114462251	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacctttacatccagttcttCagagtttagcccaaatgaaa	5	10	2	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr9:114462251C>T	uc004bfr.2	-	22	3109	c.2974G>A	c.(2974-2976)GAA>AAA	p.E992K	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.E953K|C9orf84_uc010mug.2_Missense_Mutation_p.E903K	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	992										ovary(2)	2						TCCAGTTCTTCAGAGTTTAGC	0.308													T	114462251	C	T	114462251	3	4	32	1	0	0	0	0	1	0	0	0	2500	835	29	4	1380	4	C9orf84	9	114462251	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	79087062	114462251	26751180	70	33352											
RGS3	5998	broad.mit.edu	37	chr9	116357901	116357901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttagcagtgttccaagcCttccttcgcactgagttcag	11	11	1	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr9:116357901C>T	uc004bhq.2	+	25	3476	c.3267C>T	c.(3265-3267)GCC>GCT	p.A1089A	RGS3_uc004bhs.2_Silent_p.A979A|RGS3_uc004bht.2_Silent_p.A808A|RGS3_uc010muy.2_Silent_p.A482A|RGS3_uc004bhv.2_Silent_p.A410A|RGS3_uc004bhw.2_Silent_p.A59A|RGS3_uc011lxh.1_Silent_p.A399A|RGS3_uc004bhx.2_Silent_p.A410A|RGS3_uc004bhz.2_Silent_p.A431A|RGS3_uc004bia.2_Silent_p.A202A	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	1089	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						TGTTCCAAGCCTTCCTTCGCA	0.527													T	116357901	C	T	116357901	2	4	32	1	0	0	0	0	0	0	0	1	13306	668	24	4		4	RGS3	9	116357901	Silent	SNP	C	TCGA-BR-6457-01A-21D-1800-08	1895650	116357901	24855530	71	33353											
SARDH	1757	broad.mit.edu	37	chr9	136596596	136596596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggattccacaccatacGccttgcccagctagggggac	11	14	0	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr9:136596596G>A	uc004cep.3	-	4	655	c.521C>T	c.(520-522)GCG>GTG	p.A174V	SARDH_uc004ceo.2_Missense_Mutation_p.A174V|SARDH_uc011mdn.1_Missense_Mutation_p.A174V|SARDH_uc011mdo.1_Missense_Mutation_p.A6V	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	174					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CACACCATACGCCTTGCCCAG	0.632													A	136596596	G	A	136596596	3	1	32	1	0	0	0	0	1	0	0	0	13841	1087	38	1	2307	1	SARDH	9	136596596	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	20238695	136596596	4616835	72	33354											
ZMYND11	10771	broad.mit.edu	37	chr10	288050	288050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaagacaatcaagtcgaCgttcgcttctttggccacca	8	11	2	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr10:288050C>T	uc010pzt.1	+	10	1349	c.921C>T	c.(919-921)GAC>GAT	p.D307D	ZMYND11_uc001ifk.2_Silent_p.D306D|ZMYND11_uc010pzu.1_Silent_p.D307D|ZMYND11_uc010pzv.1_Silent_p.D252D|ZMYND11_uc010pzw.1_Silent_p.D222D|ZMYND11_uc001ifm.2_Silent_p.D253D|ZMYND11_uc010pzx.1_Silent_p.D307D|ZMYND11_uc001ifn.2_Silent_p.D253D|ZMYND11_uc009xhg.2_Silent_p.D290D|ZMYND11_uc009xhh.2_Silent_p.D181D|ZMYND11_uc010pzy.1_Silent_p.D159D	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	267	PWWP.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ATCAAGTCGACGTTCGCTTCT	0.428													T	288050	C	T	288050	2	4	32	1	0	0	0	0	0	0	0	1	17703	535	19	1		1	ZMYND11	10	288050	Silent	SNP	C	TCGA-BR-6457-01A-21D-1800-08		288050	135246697	73	33355											
WAPAL	23063	broad.mit.edu	37	chr10	88220968	88220968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccagaccacccaaaagcCggagttcttctttaaaccag	7	13	2	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr10:88220968C>T	uc001kdo.2	-	10	2889	c.2447G>A	c.(2446-2448)CGG>CAG	p.R816Q	WAPAL_uc009xsv.2_Missense_Mutation_p.R130Q|WAPAL_uc001kdn.2_Missense_Mutation_p.R853Q|WAPAL_uc009xsw.2_Missense_Mutation_p.R810Q	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	816	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1						ACCCAAAAGCCGGAGTTCTTC	0.333													T	88220968	C	T	88220968	3	4	32	1	0	0	0	0	1	0	0	0	17245	652	23	1	1165	1	WAPAL	10	88220968	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	87932918	88220968	47313779	74	33356											
KIF20B	9585	broad.mit.edu	37	chr10	91533796	91533796	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacgacttcgaacaaaaacAgccaaataaatcacttatgg	6	10	1	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr10:91533796A>G	uc001kgs.1	+	33	5526	c.5454A>G	c.(5452-5454)ACA>ACG	p.T1818T	KIF20B_uc001kgr.1_Silent_p.T1778T|KIF20B_uc001kgt.1_Silent_p.T1029T|KIF20B_uc009xtw.1_RNA	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	1818	Interaction with PIN1.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3						GAACAAAAACAGCCAAATAAA	0.279													G	91533796	A	G	91533796	2	3	32	1	0	0	0	0	0	0	0	1	8287	175	7	3		3	KIF20B	10	91533796	Silent	SNP	A	TCGA-BR-6457-01A-21D-1800-08	3312828	91533796	44000951	75	33357											
HECTD2	143279	broad.mit.edu	37	chr10	93250996	93250996	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatctcgaagacagagacctGatatgaatatattatttcta	6	6	2	4	rs149760758	byFrequency	TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr10:93250996G>A	uc001khl.2	+	12	1331	c.1231G>A	c.(1231-1233)GAT>AAT	p.D411N	LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Missense_Mutation_p.D415N|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_5'UTR|HECTD2_uc001khn.1_Missense_Mutation_p.D61N	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing 2 isoform a	411					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			skin(1)	1						ACAGAGACCTGATATGAATAT	0.279													A	93250996	G	A	93250996	3	1	32	1	0	0	0	0	1	0	0	0	7040	1290	45	4	1301	4	HECTD2	10	93250996	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	1717200	93250996	42283751	76	33358											
BTRC	8945	broad.mit.edu	37	chr10	103298091	103298091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggctgctttggacccccGtgctcctgcagggacactct	12	14	1	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr10:103298091G>A	uc001kta.2	+	13	1732	c.1619G>A	c.(1618-1620)CGT>CAT	p.R540H	BTRC_uc001ktb.2_Missense_Mutation_p.R504H|BTRC_uc001ktc.2_Missense_Mutation_p.R514H	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing protein	540	WD 6.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TTGGACCCCCGTGCTCCTGCA	0.458													A	103298091	G	A	103298091	3	1	32	1	0	0	0	0	1	0	0	0	1569	1145	40	1	1669	1	BTRC	10	103298091	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	10047095	103298091	32236656	77	33359											
NELL1	4745	broad.mit.edu	37	chr11	21594908	21594908	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttcacggcttagtggcTcagtgtggacgatggctgga	16	7	2	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr11:21594908T>G	uc001mqe.2	+	19	2488	c.2335T>G	c.(2335-2337)TCA>GCA	p.S779A	NELL1_uc001mqf.2_Missense_Mutation_p.S732A|NELL1_uc009yid.2_Missense_Mutation_p.S807A|NELL1_uc010rdo.1_Missense_Mutation_p.S722A|NELL1_uc010rdp.1_Missense_Mutation_p.S492A|NELL1_uc001mqh.2_Missense_Mutation_p.S324A	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	779	VWFC 5.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						GCTTAGTGGCTCAGTGTGGAC	0.488													G	21594908	T	G	21594908	3	3	32	1	0	0	0	0	1	0	0	0	10333	1551	54	5	2409	5	NELL1	11	21594908	Missense_Mutation	SNP	T	TCGA-BR-6457-01A-21D-1800-08		21594908	113411608	78	33360											
CCDC73	493860	broad.mit.edu	37	chr11	32632734	32632734	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgccattgcattcttctcttCactgggttctcccttgggat	8	12	4	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr11:32632734C>T	uc001mtv.2	-	17	3018	c.2974G>A	c.(2974-2976)GAA>AAA	p.E992K		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	992										ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)					TTCTTCTCTTCACTGGGTTCT	0.398													T	32632734	C	T	32632734	3	4	32	1	0	0	0	0	1	0	0	0	2846	835	29	4	273	4	CCDC73	11	32632734	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	11037826	32632734	102373782	79	33361											
OR4C13	283092	broad.mit.edu	37	chr11	49974468	49974468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcttcatctgtcaattacCtttctgtggtcctaatgtca	5	12	6	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr11:49974468C>T	uc010rhz.1	+	1	494	c.494C>T	c.(493-495)CCT>CTT	p.P165L		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	165	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						TGTCAATTACCTTTCTGTGGT	0.438													T	49974468	C	T	49974468	3	4	32	1	0	0	0	0	1	0	0	0	11047	681	24	4	496	4	OR4C13	11	49974468	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	17341734	49974468	85032048	80	33362											
OR5D13	390142	broad.mit.edu	37	chr11	55541130	55541130	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcacttgtccttgacagacTtctgtttttccactgtagtt	7	10	2	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr11:55541130T>G	uc010ril.1	+	1	217	c.217T>G	c.(217-219)TTC>GTC	p.F73V		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	73	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				CTTGACAGACTTCTGTTTTTC	0.393													G	55541130	T	G	55541130	3	3	32	1	0	0	0	0	1	0	0	0	11154	1609	56	5	219	5	OR5D13	11	55541130	Missense_Mutation	SNP	T	TCGA-BR-6457-01A-21D-1800-08	5566662	55541130	79465386	81	33363											
C11orf9	745	broad.mit.edu	37	chr11	61539366	61539366	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaactaccagtccatcaagTggcagcctcatcagcagaac	7	15	3	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr11:61539366T>C	uc001nsc.1	+	7	1153	c.1057T>C	c.(1057-1059)TGG>CGG	p.W353R	C11orf9_uc001nse.1_Missense_Mutation_p.W344R	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	353	NDT80.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						GTCCATCAAGTGGCAGCCTCA	0.617													C	61539366	T	C	61539366	3	2	32	1	0	0	0	0	1	0	0	0	1671	1696	59	3	1106	3	C11orf9	11	61539366	Missense_Mutation	SNP	T	TCGA-BR-6457-01A-21D-1800-08	5998236	61539366	73467150	82	33364											
AHNAK	79026	broad.mit.edu	37	chr11	62299903	62299903	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcttccacattgaccttGggccctgaaatactgatatc	10	11	0	3			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr11:62299903G>A	uc001ntl.2	-	5	2286	c.1986C>T	c.(1984-1986)CCC>CCT	p.P662P	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	662					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CATTGACCTTGGGCCCTGAAA	0.498													A	62299903	G	A	62299903	2	1	32	1	0	0	0	0	0	0	0	1	414	1335	47	4		4	AHNAK	11	62299903	Silent	SNP	G	TCGA-BR-6457-01A-21D-1800-08	760537	62299903	72706613	83	33365											
SLC22A6	9356	broad.mit.edu	37	chr11	62747361	62747361	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacctggattaggtagatgCtgactccaaagccctgcagg	11	11	1	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr11:62747361C>A	uc001nwk.2	-	7	1404	c.1097G>T	c.(1096-1098)AGC>ATC	p.S366I	SLC22A6_uc001nwl.2_Missense_Mutation_p.S366I|SLC22A6_uc001nwj.2_Missense_Mutation_p.S366I|SLC22A6_uc001nwm.2_Missense_Mutation_p.S366I	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	solute carrier family 22 member 6 isoform a	366	Extracellular (Potential).				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding				0						TAGGTAGATGCTGACTCCAAA	0.517													A	62747361	C	A	62747361	3	1	32	1	0	0	0	0	1	0	0	0	14458	797	28	5	610	5	SLC22A6	11	62747361	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	447458	62747361	72259155	84	33366											
ZFPL1	7542	broad.mit.edu	37	chr11	64854058	64854058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacagtcaactgggcccGggcaggactgggcctccctc	14	16	1	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr11:64854058G>A	uc001ocq.1	+	4	551	c.386G>A	c.(385-387)CGG>CAG	p.R129Q	CDCA5_uc001ocp.2_5'Flank	NM_006782	NP_006773	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	129	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			ovary(1)	1						AACTGGGCCCGGGCAGGACTG	0.647													A	64854058	G	A	64854058	3	1	32	1	0	0	0	0	1	0	0	0	17653	1116	39	1	396	1	ZFPL1	11	64854058	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	2106697	64854058	70152458	85	33367											
C11orf2	738	broad.mit.edu	37	chr11	64875710	64875710	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaggcagagtgcgtggAgctgctgctggccctgggcg	20	10	0	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr11:64875710A>G	uc001ocr.1	+	5	807	c.767A>G	c.(766-768)GAG>GGG	p.E256G	C11orf2_uc001ocs.1_Missense_Mutation_p.E132G	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	256					lipid transport|protein transport	Golgi apparatus|integral to membrane					0						GAGTGCGTGGAGCTGCTGCTG	0.726													G	64875710	A	G	64875710	3	3	32	1	0	0	0	0	1	0	0	0	1633	304	11	3	785	3	C11orf2	11	64875710	Missense_Mutation	SNP	A	TCGA-BR-6457-01A-21D-1800-08	21652	64875710	70130806	86	33368											
SLC36A4	120103	broad.mit.edu	37	chr11	92918925	92918925	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agctcttgctcatgttcttcAtctgatgtcccatcaaaatt	5	11	6	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr11:92918925A>T	uc001pdn.2	-	2	208	c.111T>A	c.(109-111)GAT>GAA	p.D37E	SLC36A4_uc001pdm.2_5'UTR	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid	37					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CATGTTCTTCATCTGATGTCC	0.353													T	92918925	A	T	92918925	3	4	32	1	0	0	0	0	1	0	0	0	14596	214	8	5	1443	5	SLC36A4	11	92918925	Missense_Mutation	SNP	A	TCGA-BR-6457-01A-21D-1800-08	28043215	92918925	42087591	87	33369											
GRIK4	2900	broad.mit.edu	37	chr11	120811160	120811160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaattagcattctttaccgCgttcatatggtaagagactt	9	7	2	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr11:120811160C>T	uc001pxn.2	+	14	1868	c.1581C>T	c.(1579-1581)CGC>CGT	p.R527R	GRIK4_uc009zav.1_Silent_p.R527R|GRIK4_uc009zaw.1_Silent_p.R527R|GRIK4_uc009zax.1_Silent_p.R527R	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	527	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TTCTTTACCGCGTTCATATGG	0.393													T	120811160	C	T	120811160	2	4	32	1	0	0	0	0	0	0	0	1	6776	755	27	1		1	GRIK4	11	120811160	Silent	SNP	C	TCGA-BR-6457-01A-21D-1800-08	27892235	120811160	14195356	88	33370											
CACNA1C	775	broad.mit.edu	37	chr12	2558239	2558239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccccaatgcctacctccGcaacggctggaacctactag	7	17	1	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr12:2558239G>A	uc009zdu.1	+	4	888	c.575G>A	c.(574-576)CGC>CAC	p.R192H	CACNA1C_uc009zdv.1_Missense_Mutation_p.R192H|CACNA1C_uc001qkb.2_Missense_Mutation_p.R192H|CACNA1C_uc001qkc.2_Missense_Mutation_p.R192H|CACNA1C_uc001qke.2_Missense_Mutation_p.R192H|CACNA1C_uc001qkf.2_Missense_Mutation_p.R192H|CACNA1C_uc001qjz.2_Missense_Mutation_p.R192H|CACNA1C_uc001qkd.2_Missense_Mutation_p.R192H|CACNA1C_uc001qkg.2_Missense_Mutation_p.R192H|CACNA1C_uc009zdw.1_Missense_Mutation_p.R192H|CACNA1C_uc001qkh.2_Missense_Mutation_p.R192H|CACNA1C_uc001qkl.2_Missense_Mutation_p.R192H|CACNA1C_uc001qkn.2_Missense_Mutation_p.R192H|CACNA1C_uc001qko.2_Missense_Mutation_p.R192H|CACNA1C_uc001qkp.2_Missense_Mutation_p.R192H|CACNA1C_uc001qkr.2_Missense_Mutation_p.R192H|CACNA1C_uc001qku.2_Missense_Mutation_p.R192H|CACNA1C_uc001qkq.2_Missense_Mutation_p.R192H|CACNA1C_uc001qks.2_Missense_Mutation_p.R192H|CACNA1C_uc001qkt.2_Missense_Mutation_p.R192H|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR|CACNA1C_uc001qkj.1_5'UTR|CACNA1C_uc001qkk.1_5'UTR|CACNA1C_uc001qkm.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	192	I.|Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCCTACCTCCGCAACGGCTGG	0.378													A	2558239	G	A	2558239	3	1	32	1	0	0	0	0	1	0	0	0	2540	1087	38	1	589	1	CACNA1C	12	2558239	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08		2558239	131293656	89	33371											
RIMKLB	57494	broad.mit.edu	37	chr12	8926380	8926380	+	Nonstop_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaaactactggtggactgActccactggtaattaaccaa	7	10	1	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr12:8926380A>C	uc001quu.2	+	6	1412	c.1161A>C	c.(1159-1161)TGA>TGC	p.*387C	RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_Nonstop_Mutation_p.*387C|RIMKLB_uc010sgl.1_Nonstop_Mutation_p.*387C|RIMKLB_uc001quw.2_Intron	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family	387					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						TGGTGGACTGACTCCACTGGT	0.453													C	8926380	A	C	8926380	4	2	32	1	0	0	0	0	0	0	0	0	13366	288	10	5	1179	5	RIMKLB	12	8926380	Nonstop_Mutation	SNP	A	TCGA-BR-6457-01A-21D-1800-08	6368141	8926380	124925515	90	33372											
A2M	2	broad.mit.edu	37	chr12	9231877	9231877	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgccatatcgctccccaaAggtgctgtaggagccatcat	9	14	1	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr12:9231877A>C	uc001qvk.1	-	25	3195	c.3082T>G	c.(3082-3084)TTT>GTT	p.F1028V	A2M_uc001qvj.1_Missense_Mutation_p.F70V|A2M_uc009zgk.1_Missense_Mutation_p.F878V	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1028					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	CGCTCCCCAAAGGTGCTGTAG	0.343													C	9231877	A	C	9231877	3	2	32	1	0	0	0	0	1	0	0	0	4	72	3	5	1390	5	A2M	12	9231877	Missense_Mutation	SNP	A	TCGA-BR-6457-01A-21D-1800-08	305497	9231877	124620018	91	33373											
SLCO1B3	28234	broad.mit.edu	37	chr12	21028196	21028196	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagaataactcctaaggactCtcgttgggttggagcttggt	12	8	1	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr12:21028196C>A	uc001rek.2	+	8	881	c.755C>A	c.(754-756)TCT>TAT	p.S252Y	SLCO1B3_uc001rel.2_Missense_Mutation_p.S252Y|SLCO1B3_uc010sil.1_Missense_Mutation_p.S252Y|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.S77Y	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	252	Extracellular (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					CCTAAGGACTCTCGTTGGGTT	0.368													A	21028196	C	A	21028196	3	1	32	1	0	0	0	0	1	0	0	0	14724	913	32	5	781	5	SLCO1B3	12	21028196	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	11796319	21028196	112823699	92	33374											
SLCO1B3	28234	broad.mit.edu	37	chr12	21051412	21051412	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcacttgcaatgggtttccaGtcaatggttataagaacact	9	8	1	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr12:21051412G>C	uc001rek.2	+	13	1851	c.1725G>C	c.(1723-1725)CAG>CAC	p.Q575H	SLCO1B3_uc001rel.2_Missense_Mutation_p.Q575H|SLCO1B3_uc010sil.1_Missense_Mutation_p.Q575H|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.Q400H	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	575	Helical; Name=11; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					TGGGTTTCCAGTCAATGGTTA	0.259													C	21051412	G	C	21051412	3	2	32	1	0	0	0	0	1	0	0	0	14724	1020	36	5	1771	5	SLCO1B3	12	21051412	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	23216	21051412	112800483	93	33375											
HELB	92797	broad.mit.edu	37	chr12	66725385	66725385	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgagcatccaaaagaacctGtggtgtgaatgatgatgaaa	12	6	0	5			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr12:66725385G>T	uc001sti.2	+	12	3150	c.3122G>T	c.(3121-3123)TGT>TTT	p.C1041F	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	1041					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AAAAGAACCTGTGGTGTGAAT	0.393													T	66725385	G	T	66725385	3	4	32	1	0	0	0	0	1	0	0	0	7045	1377	48	5	3168	5	HELB	12	66725385	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	45673973	66725385	67126510	94	33376											
CLLU1OS	574016	broad.mit.edu	37	chr12	92814941	92814941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttggaggtaaacttgttaGcaaggccactgagaagagaa	13	5	0	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr12:92814941G>A	uc001tcb.1	-	3	153	c.151C>T	c.(151-153)CTA>TTA	p.L51L	CLLU1_uc001tcc.2_5'Flank|CLLU1_uc001tcd.2_5'Flank|CLLU1_uc001tce.1_5'Flank|CLLU1_uc001tcf.2_5'Flank	NM_001025232	NP_001020403	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1	51											0						AAACTTGTTAGCAAGGCCACT	0.413													A	92814941	G	A	92814941	2	1	32	1	0	0	0	0	0	0	0	1	3541	962	34	2		2	CLLU1OS	12	92814941	Silent	SNP	G	TCGA-BR-6457-01A-21D-1800-08	26089556	92814941	41036954	95	33377											
TPCN1	53373	broad.mit.edu	37	chr12	113704147	113704147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccgccgtccccgcactcCggcttggcatctatgtgagc	10	19	1	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr12:113704147C>T	uc001tuw.2	+	4	697	c.400C>T	c.(400-402)CGG>TGG	p.R134W	TPCN1_uc001tux.2_Missense_Mutation_p.R206W|TPCN1_uc010syt.1_Missense_Mutation_p.R66W	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1 isoform 2	134	Extracellular (Potential).					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			skin(2)|ovary(1)	3						CCCCGCACTCCGGCTTGGCAT	0.617													T	113704147	C	T	113704147	3	4	32	1	0	0	0	0	1	0	0	0	16392	643	23	1	630	1	TPCN1	12	113704147	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	20889206	113704147	20147748	96	33378											
SPG20	23111	broad.mit.edu	37	chr13	36878722	36878722	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagttacgccaacattgaccGcagaatccaccgcatggtgg	10	13	0	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr13:36878722G>T	uc001uvn.2	-	10	2051	c.1781C>A	c.(1780-1782)GCG>GAG	p.A594E	SPG20_uc010ten.1_Missense_Mutation_p.A584E|SPG20_uc001uvm.2_Missense_Mutation_p.A594E|SPG20_uc001uvo.2_Missense_Mutation_p.A594E|SPG20_uc001uvq.2_Missense_Mutation_p.A594E	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	594					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		AACATTGACCGCAGAATCCAC	0.388													T	36878722	G	T	36878722	3	4	32	1	0	0	0	0	1	0	0	0	15041	1087	38	5	223	5	SPG20	13	36878722	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08		36878722	78291156	97	33379											
SMAD9	4093	broad.mit.edu	37	chr13	37427777	37427777	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcactcacgcactcggCatacacctctcccccgacgt	7	19	3	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr13:37427777C>A	uc001uvw.2	-	6	1382	c.1039G>T	c.(1039-1041)GCC>TCC	p.A347S	SMAD9_uc001uvx.2_Missense_Mutation_p.A310S|SMAD9_uc010tep.1_Missense_Mutation_p.A140S	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	347	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		ACGCACTCGGCATACACCTCT	0.557													A	37427777	C	A	37427777	3	1	32	1	0	0	0	0	1	0	0	0	14764	710	25	5	372	5	SMAD9	13	37427777	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	549055	37427777	77742101	98	33380											
PCDH17	27253	broad.mit.edu	37	chr13	58208453	58208453	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccccacgctgcagaacgaCaccgcggagctgcaggtgcc	12	17	0	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr13:58208453C>A	uc001vhq.1	+	1	2665	c.1773C>A	c.(1771-1773)GAC>GAA	p.D591E	PCDH17_uc010aec.1_Missense_Mutation_p.D591E	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	591	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGCAGAACGACACCGCGGAGC	0.667													A	58208453	C	A	58208453	3	1	32	1	0	0	0	0	1	0	0	0	11512	477	17	5	1775	5	PCDH17	13	58208453	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	20780676	58208453	56961425	99	33381											
GPC6	10082	broad.mit.edu	37	chr13	94938678	94938678	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggacccgatagatgtcaAgatttctgaagccattatga	9	8	2	4			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr13:94938678A>G	uc001vlt.2	+	5	1585	c.953A>G	c.(952-954)AAG>AGG	p.K318R	GPC6_uc010tig.1_Missense_Mutation_p.K318R	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	318						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				ATAGATGTCAAGATTTCTGAA	0.413													G	94938678	A	G	94938678	3	3	32	1	0	0	0	0	1	0	0	0	6602	72	3	3	971	3	GPC6	13	94938678	Missense_Mutation	SNP	A	TCGA-BR-6457-01A-21D-1800-08	36730225	94938678	20231200	100	33382											
ZNF219	51222	broad.mit.edu	37	chr14	21560052	21560052	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcggtcgatcttgcctgggcCccagcagcagaggcagagtg	16	12	1	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr14:21560052C>G	uc001vzr.2	-	3	1825	c.1404G>C	c.(1402-1404)GGG>GGC	p.G468G	ZNF219_uc001vzs.2_Silent_p.G468G|ZNF219_uc010aik.1_Silent_p.G468G	NM_016423	NP_057507	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	468					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)	1	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TTGCCTGGGCCCCAGCAGCAG	0.667													G	21560052	C	G	21560052	2	3	32	1	0	0	0	0	0	0	0	1	17770	610	22	5		5	ZNF219	14	21560052	Silent	SNP	C	TCGA-BR-6457-01A-21D-1800-08		21560052	85789488	101	33383											
OR10G2	26534	broad.mit.edu	37	chr14	22102378	22102378	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcggccactaccctgacGtccacaaaggtcacaagctc	9	16	1	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr14:22102378G>A	uc010tmc.1	-	1	621	c.621C>T	c.(619-621)GAC>GAT	p.D207D		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G,	207	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CTACCCTGACGTCCACAAAGG	0.527													A	22102378	G	A	22102378	2	1	32	1	0	0	0	0	0	0	0	1	10899	1136	40	1		1	OR10G2	14	22102378	Silent	SNP	G	TCGA-BR-6457-01A-21D-1800-08	542326	22102378	85247162	102	33384											
FITM1	161247	broad.mit.edu	37	chr14	24601699	24601699	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagtggcgaggctacacCgtctcctcccacaccttcct	7	19	1	0	rs139067370		TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr14:24601699C>T	uc001wmf.2	+	2	644	c.546C>T	c.(544-546)ACC>ACT	p.T182T		NM_203402	NP_981947	A5D6W6	FITM1_HUMAN	fat-inducing transcript 1	182	Extracellular (Potential).				lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane					0						GAGGCTACACCGTCTCCTCCC	0.667													T	24601699	C	T	24601699	2	4	32	1	0	0	0	0	0	0	0	1	5898	639	23	1		1	FITM1	14	24601699	Silent	SNP	C	TCGA-BR-6457-01A-21D-1800-08	2499321	24601699	82747841	103	33385											
SLC25A21	89874	broad.mit.edu	37	chr14	37180670	37180670	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaatgatttgtcttgcataAcccacagtggatggttgctg	10	7	1	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr14:37180670A>C	uc001wtz.1	-	7	766	c.456T>G	c.(454-456)GGT>GGG	p.G152G		NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial	152	Solcar 2.				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			skin(1)	1	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		GTCTTGCATAACCCACAGTGG	0.443													C	37180670	A	C	37180670	2	2	32	1	0	0	0	0	0	0	0	1	14484	30	2	5		5	SLC25A21	14	37180670	Silent	SNP	A	TCGA-BR-6457-01A-21D-1800-08	12578971	37180670	70168870	104	33386											
FANCM	57697	broad.mit.edu	37	chr14	45620674	45620674	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatatcccaaatctaacaaaAtatcagataattctggcaag	5	8	3	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr14:45620674A>G	uc001wwd.3	+	5	1092	c.993A>G	c.(991-993)AAA>AAG	p.K331K	FANCM_uc001wwc.2_Silent_p.K331K|FANCM_uc010anf.2_Silent_p.K305K	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	331					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						ATCTAACAAAATATCAGATAA	0.303								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				G	45620674	A	G	45620674	2	3	32	1	0	0	0	0	0	0	0	1	5671	98	4	3		3	FANCM	14	45620674	Silent	SNP	A	TCGA-BR-6457-01A-21D-1800-08	8440004	45620674	61728866	105	33387											
ZFYVE1	53349	broad.mit.edu	37	chr14	73459882	73459882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagatgactcccgggtgcCggggagaacgggtggtgtta	18	7	0	4			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr14:73459882C>T	uc001xnm.2	-	4	1812	c.1172G>A	c.(1171-1173)CGG>CAG	p.R391Q	ZFYVE1_uc010arj.2_Missense_Mutation_p.R391Q	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1 isoform 1	391						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			skin(1)	1		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TCCCGGGTGCCGGGGAGAACG	0.572													T	73459882	C	T	73459882	3	4	32	1	0	0	0	0	1	0	0	0	17660	652	23	1	1197	1	ZFYVE1	14	73459882	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	27839208	73459882	33889658	106	33388											
YLPM1	56252	broad.mit.edu	37	chr14	75248531	75248531	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagttctccccccaccttcCctgtcttctgcagggccacc	6	21	3	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr14:75248531C>T	uc001xqj.3	+	4	1909	c.1785C>T	c.(1783-1785)TCC>TCT	p.S595S	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCCCACCTTCCCTGTCTTCTG	0.582													T	75248531	C	T	75248531	2	4	32	1	0	0	0	0	0	0	0	1	17483	610	22	4		4	YLPM1	14	75248531	Silent	SNP	C	TCGA-BR-6457-01A-21D-1800-08	1788649	75248531	32101009	107	33389											
SLC25A29	123096	broad.mit.edu	37	chr14	100765194	100765194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccttgaccgtgtcaaaCgggtgtcccacaagcacgcc	9	16	2	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr14:100765194C>T	uc001yha.2	-	2	354	c.63G>A	c.(61-63)CCG>CCA	p.P21P	SLC25A29_uc010twx.1_Intron|SLC25A29_uc010avw.2_Silent_p.P21P	NM_001039355	NP_001034444	Q8N8R3	MCATL_HUMAN	solute carrier family 25, member 29	21	Solcar 1.|Helical; Name=1; (Potential).					integral to membrane|mitochondrial inner membrane	binding			ovary(1)	1		Melanoma(154;0.152)			L-Carnitine(DB00583)	CCGTGTCAAACGGGTGTCCCA	0.597													T	100765194	C	T	100765194	2	4	32	1	0	0	0	0	0	0	0	1	14492	523	19	1		1	SLC25A29	14	100765194	Silent	SNP	C	TCGA-BR-6457-01A-21D-1800-08	25516663	100765194	6584346	108	33390											
RYR3	6263	broad.mit.edu	37	chr15	33855184	33855184	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcacaagacgccaaaacTtcccgcctgggacctctaaa	7	14	1	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr15:33855184T>G	uc001zhi.2	+	11	1189	c.1119T>G	c.(1117-1119)ACT>ACG	p.T373T	RYR3_uc010bar.2_Silent_p.T373T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	373	Cytoplasmic (By similarity).|MIR 5.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACGCCAAAACTTCCCGCCTGG	0.453													G	33855184	T	G	33855184	2	3	32	1	0	0	0	0	0	0	0	1	13770	1596	56	5		5	RYR3	15	33855184	Silent	SNP	T	TCGA-BR-6457-01A-21D-1800-08		33855184	68676208	109	33391											
DISP2	85455	broad.mit.edu	37	chr15	40661112	40661112	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagccactggctggcagcGgagctgggcatggcacctcc	15	14	1	0	rs140286504	byFrequency	TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr15:40661112G>A	uc001zlk.1	+	8	2888	c.2799G>A	c.(2797-2799)GCG>GCA	p.A933A		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	933					smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GGCTGGCAGCGGAGCTGGGCA	0.607													A	40661112	G	A	40661112	2	1	32	1	0	0	0	0	0	0	0	1	4540	1103	39	1		1	DISP2	15	40661112	Silent	SNP	G	TCGA-BR-6457-01A-21D-1800-08	6805928	40661112	61870280	110	33392											
MCTP2	55784	broad.mit.edu	37	chr15	94983411	94983411	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttcaatcaggtatttTtgatcactgtctggaatttt	7	6	5	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr15:94983411T>G	uc002btj.2	+	17	2157	c.2092T>G	c.(2092-2094)TTG>GTG	p.L698V	MCTP2_uc010boj.2_Missense_Mutation_p.L427V|MCTP2_uc010bok.2_Intron|MCTP2_uc002btl.2_Missense_Mutation_p.L286V	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	698	Helical; (Potential).				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCAGGTATTTTTGATCACTGT	0.378													G	94983411	T	G	94983411	3	3	32	1	0	0	0	0	1	0	0	0	9401	1838	64	5	2234	5	MCTP2	15	94983411	Missense_Mutation	SNP	T	TCGA-BR-6457-01A-21D-1800-08	54322299	94983411	7547981	111	33393											
OR4F15	390649	broad.mit.edu	37	chr15	102358857	102358857	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcattggccttatccactcAttggtccaattagtttttgt	6	9	2	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr15:102358857A>C	uc010uts.1	+	1	468	c.468A>C	c.(466-468)TCA>TCC	p.S156S		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F,	156	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTATCCACTCATTGGTCCAAT	0.418													C	102358857	A	C	102358857	2	2	32	1	0	0	0	0	0	0	0	1	11061	204	8	5		5	OR4F15	15	102358857	Silent	SNP	A	TCGA-BR-6457-01A-21D-1800-08	7375446	102358857	172535	112	33394											
AQP8	343	broad.mit.edu	37	chr16	25235898	25235898	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgtggatatcctggctggGtgagtgtcccttggcagtgg	16	9	0	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr16:25235898G>A	uc002doc.2	+	4	684	c.602_splice	c.e4+1	p.G201_splice		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8						cellular response to cAMP	integral to plasma membrane	water channel activity			upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(48;0.044)		TCCTGGCTGGGTGAGTGTCCC	0.512													A	25235898	G	A	25235898	5	1	32	1	0	0	0	0	0	0	1	0	832	1275	44	4	617	4	AQP8	16	25235898	Splice_Site	SNP	G	TCGA-BR-6457-01A-21D-1800-08		25235898	65118855	113	33395											
SLC7A6OS	84138	broad.mit.edu	37	chr16	68344764	68344764	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtttacaagcgagcacaagAgcctccgccggctccgcact	10	16	0	1	rs147089863		TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr16:68344764A>C	uc002evw.1	-	1	85	c.66T>G	c.(64-66)GCT>GCG	p.A22A	PRMT7_uc002evx.1_5'Flank|PRMT7_uc002evy.1_5'Flank|PRMT7_uc010vlg.1_5'Flank	NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite	22					protein transport	cytoplasm|nucleus				ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		CGAGCACAAGAGCCTCCGCCG	0.657													C	68344764	A	C	68344764	2	2	32	1	0	0	0	0	0	0	0	1	14702	291	11	5		5	SLC7A6OS	16	68344764	Silent	SNP	A	TCGA-BR-6457-01A-21D-1800-08	43108866	68344764	22009989	114	33396											
COG8	84342	broad.mit.edu	37	chr16	69366758	69366758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaggcagcctcttcagcgcGatggaaggccaggattattt	13	9	2	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr16:69366758G>A	uc002ewy.2	-	4	1512	c.1441C>T	c.(1441-1443)CGC>TGC	p.R481C	PDF_uc002ewx.1_5'Flank|COG8_uc002ewz.3_Missense_Mutation_p.R481C	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	481					protein transport	Golgi membrane|Golgi transport complex				ovary(1)	1						TCTTCAGCGCGATGGAAGGCC	0.507													A	69366758	G	A	69366758	3	1	32	1	0	0	0	0	1	0	0	0	3664	1058	37	1	405	1	COG8	16	69366758	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	1021994	69366758	20987995	115	33397											
GLG1	2734	broad.mit.edu	37	chr16	74487204	74487204	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acgtcattacttgcatggcaAgatcagagaagccatctgct	9	10	3	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr16:74487204A>T	uc002fcy.3	-	26	3451	c.3401T>A	c.(3400-3402)CTT>CAT	p.L1134H	GLG1_uc002fcx.2_Missense_Mutation_p.L1134H|GLG1_uc002fcw.3_Missense_Mutation_p.L1123H|GLG1_uc002fcz.3_Missense_Mutation_p.L551H	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	1134	Extracellular (Potential).					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2						TTGCATGGCAAGATCAGAGAA	0.488													T	74487204	A	T	74487204	3	4	32	1	0	0	0	0	1	0	0	0	6436	72	3	5	222	5	GLG1	16	74487204	Missense_Mutation	SNP	A	TCGA-BR-6457-01A-21D-1800-08	5120446	74487204	15867549	116	33398											
TP53	7157	broad.mit.edu	37	chr17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcctgcttgcttacctcGcttagtgctccctgggggca	11	13	0	0	rs121913344		TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr17:7577022G>A	uc002gim.2	-	8	1110	c.916C>T	c.(916-918)CGA>TGA	p.R306*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	306	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.		R -> Q (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R306*(99)|p.0?(7)|p.?(3)|p.R306R(2)|p.R306fs*39(2)|p.K305fs*1(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCTTACCTCGCTTAGTGCTC	0.562	R306*(MFE296_ENDOMETRIUM)|R306*(HCC1937_BREAST)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7577022	G	A	7577022	4	1	32	1	0	0	0	0	0	1	0	0	16378	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08		7577022	73618188	117	33399											
CYB5D1	124637	broad.mit.edu	37	chr17	7762832	7762832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggaagagaatgggatcCgggatgaggaggaagaattt	16	5	0	3	rs62059715	byFrequency	TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr17:7762832C>T	uc002gjb.3	+	4	978	c.589C>T	c.(589-591)CGG>TGG	p.R197W	LSMD1_uc002giz.2_5'Flank|LSMD1_uc002gja.2_5'Flank|CYB5D1_uc010cnn.1_3'UTR	NM_144607	NP_653208	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	197							heme binding			skin(1)	1		all_cancers(10;0.11)|Prostate(122;0.219)				GAATGGGATCCGGGATGAGGA	0.463													T	7762832	C	T	7762832	3	4	32	1	0	0	0	0	1	0	0	0	4124	643	23	1	603	1	CYB5D1	17	7762832	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	185810	7762832	73432378	118	33400											
KRT28	162605	broad.mit.edu	37	chr17	38953225	38953225	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagggtgcgcctcatctcGgtgagctggctccgggcgaa	16	12	2	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr17:38953225G>A	uc002hvh.1	-	5	987	c.921C>T	c.(919-921)ACC>ACT	p.T307T		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	307	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				GCCTCATCTCGGTGAGCTGGC	0.617													A	38953225	G	A	38953225	2	1	32	1	0	0	0	0	0	0	0	1	8465	1103	39	1		1	KRT28	17	38953225	Silent	SNP	G	TCGA-BR-6457-01A-21D-1800-08	31190393	38953225	42241985	119	33401											
STAT3	6774	broad.mit.edu	37	chr17	40485746	40485746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgaggggccggtcaggatGcatgggcatgcagggctgcc	19	10	1	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr17:40485746G>A	uc002hzl.1	-	10	1234	c.994C>T	c.(994-996)CAT>TAT	p.H332Y	STAT3_uc002hzk.1_Missense_Mutation_p.H332Y|STAT3_uc002hzm.1_Missense_Mutation_p.H332Y|STAT3_uc010wgh.1_Missense_Mutation_p.H234Y|STAT3_uc002hzn.1_Missense_Mutation_p.H332Y	NM_139276	NP_644805	P40763	STAT3_HUMAN	signal transducer and activator of transcription	332					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CGGTCAGGATGCATGGGCATG	0.577									Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome				A	40485746	G	A	40485746	3	1	32	1	0	0	0	0	1	0	0	0	15265	1319	46	2	1378	2	STAT3	17	40485746	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	1532521	40485746	40709464	120	33402											
ACBD4	79777	broad.mit.edu	37	chr17	43213915	43213915	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgattctacagttactAcaagcaggccaccatggggc	11	12	1	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr17:43213915A>G	uc002iid.2	+	3	481	c.137A>G	c.(136-138)TAC>TGC	p.Y46C	ACBD4_uc010wjj.1_Missense_Mutation_p.Y46C|ACBD4_uc002iie.2_Missense_Mutation_p.Y46C|ACBD4_uc002iif.2_Missense_Mutation_p.Y46C|ACBD4_uc002iic.2_Missense_Mutation_p.Y46C|ACBD4_uc010dae.2_5'UTR	NM_001135707	NP_001129179	Q8NC06	ACBD4_HUMAN	acyl-Coenzyme A binding domain containing 4	46	ACB.						fatty-acyl-CoA binding			ovary(1)|kidney(1)	2						TACAGTTACTACAAGCAGGCC	0.602													G	43213915	A	G	43213915	3	3	32	1	0	0	0	0	1	0	0	0	124	391	14	3	143	3	ACBD4	17	43213915	Missense_Mutation	SNP	A	TCGA-BR-6457-01A-21D-1800-08	2728169	43213915	37981295	121	33403											
GPRC5C	55890	broad.mit.edu	37	chr17	72436661	72436661	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtctttgtgctcctcaccaCagccacctccgttgccatat	7	16	2	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr17:72436661C>A	uc002jks.2	+	1	785	c.746C>A	c.(745-747)ACA>AAA	p.T249K	GPRC5C_uc002jkp.2_Missense_Mutation_p.T294K|GPRC5C_uc002jkq.2_Intron|GPRC5C_uc002jkr.2_Missense_Mutation_p.T261K|GPRC5C_uc002jkt.2_Missense_Mutation_p.T249K|GPRC5C_uc002jku.2_5'Flank	NM_018653	NP_061123	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor family C, group 5,	249	Helical; Name=6; (Potential).					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1)	5						CTCCTCACCACAGCCACCTCC	0.617													A	72436661	C	A	72436661	3	1	32	1	0	0	0	0	1	0	0	0	6726	478	17	5	895	5	GPRC5C	17	72436661	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	29222746	72436661	8758549	122	33404											
DSEL	92126	broad.mit.edu	37	chr18	65180695	65180695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtattcagtgtgaagaGtactccacctttgggcagtt	11	7	1	3			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr18:65180695G>A	uc002lke.1	-	2	2405	c.1181C>T	c.(1180-1182)ACT>ATT	p.T394I		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	384						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				AGTGTGAAGAGTACTCCACCT	0.458													A	65180695	G	A	65180695	3	1	32	1	0	0	0	0	1	0	0	0	4775	1029	36	4	2491	4	DSEL	18	65180695	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08		65180695	12896553	123	33405											
MUC16	94025	broad.mit.edu	37	chr19	9047473	9047473	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttggaaaatctgaagtggcTtctgccccaggactggtggc	14	9	2	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr19:9047473T>G	uc002mkp.2	-	5	34362	c.34158A>C	c.(34156-34158)GAA>GAC	p.E11386D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11388	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTGAAGTGGCTTCTGCCCCAG	0.468													G	9047473	T	G	9047473	3	3	32	1	0	0	0	0	1	0	0	0	9973	1606	56	5	9685	5	MUC16	19	9047473	Missense_Mutation	SNP	T	TCGA-BR-6457-01A-21D-1800-08		9047473	50081510	124	33406											
CDC37	11140	broad.mit.edu	37	chr19	10505732	10505732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactgccggaagcaggcccGggggtccacctttaggctct	14	13	1	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr19:10505732G>A	uc002mof.1	-	5	807	c.691C>T	c.(691-693)CGG>TGG	p.R231W	CDC37_uc002moe.1_Missense_Mutation_p.R186W|CDC37_uc010dxf.1_Missense_Mutation_p.R68W|CDC37_uc002mog.1_Intron|CDC37_uc002moh.2_Missense_Mutation_p.R231W	NM_007065	NP_008996	Q16543	CDC37_HUMAN	cell division cycle 37 protein	231					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding				0			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		AAGCAGGCCCGGGGGTCCACC	0.582													A	10505732	G	A	10505732	3	1	32	1	0	0	0	0	1	0	0	0	3068	1115	39	1	461	1	CDC37	19	10505732	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	1458259	10505732	48623251	125	33407											
CPAMD8	27151	broad.mit.edu	37	chr19	17008738	17008738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acacggagactggcagcgccGacgtcctgcccaccacgcac	11	18	0	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr19:17008738G>A	uc002nfb.2	-	38	5089	c.5057C>T	c.(5056-5058)TCG>TTG	p.S1686L	CPAMD8_uc010xpj.1_5'Flank|CPAMD8_uc002nfd.1_Missense_Mutation_p.S151L	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1639						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TGGCAGCGCCGACGTCCTGCC	0.587													A	17008738	G	A	17008738	3	1	32	1	0	0	0	0	1	0	0	0	3795	1059	37	1	761	1	CPAMD8	19	17008738	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	6503006	17008738	42120245	126	33408											
DDX49	54555	broad.mit.edu	37	chr19	19035507	19035507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcaacagacgtggcctccCggtgagcagcccccagtctc	11	17	1	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr19:19035507C>T	uc002nkq.1	+	8	985	c.928C>T	c.(928-930)CGG>TGG	p.R310W	HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkr.1_RNA|DDX49_uc002nks.1_Missense_Mutation_p.R203W|DDX49_uc002nkt.1_Missense_Mutation_p.R192W	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	310	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			Epithelial(12;0.0289)			CGTGGCCTCCCGGTGAGCAGC	0.577													T	19035507	C	T	19035507	3	4	32	1	0	0	0	0	1	0	0	0	4366	666	23	1	958	1	DDX49	19	19035507	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	2026769	19035507	40093476	127	33409											
C19orf2	8725	broad.mit.edu	37	chr19	30502064	30502064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagaaagaagaagccaaaCgtaaacgaaagaacagcact	8	7	0	4			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr19:30502064C>T	uc002nsr.2	+	9	1129	c.1099C>T	c.(1099-1101)CGT>TGT	p.R367C	C19orf2_uc002nsq.2_Missense_Mutation_p.R349C|C19orf2_uc002nss.2_Missense_Mutation_p.R327C|C19orf2_uc002nst.2_Missense_Mutation_p.R291C	NM_003796	NP_003787	O94763	RMP_HUMAN	RPB5-mediating protein isoform a	367					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)|kidney(1)	2	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)		AGAAGCCAAACGTAAACGAAA	0.453													T	30502064	C	T	30502064	3	4	32	1	0	0	0	0	1	0	0	0	1911	536	19	1	1133	1	C19orf2	19	30502064	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	11466557	30502064	28626919	128	33410											
CLIP3	25999	broad.mit.edu	37	chr19	36515298	36515300	+	Splice_Site	DEL	CTT	CTT	-													cacacatcccagcccctgacCttctggccatccagcagcac							TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr19:36515297_36515299CCTT>C	uc010eeq.2	-	6	1232	c.918_splice	c.e6+1	p.K306_splice	BC071809_uc002ocy.3_Intron|CLIP3_uc002ocz.2_Splice_Site_p.K306_splice	NM_001199570	NP_001186499	Q96DZ5	CLIP3_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 3 (CLIP3), transcript variant 1, mRNA.	306					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	Golgi stack|early endosome membrane|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CAGCCCCTGACCTTCTGGCCATC	0.621													-	36515300	CTT	-	36515298	8	5	32	1	0	1	0	1	0	0	1	0	3534	695	24	0	757	0	CLIP3	19	36515298	Splice_Site	DEL	CTT	TCGA-BR-6457-01A-21D-1800-08	6013234	36515298	22613685	129	33411											
ZNF568	374900	broad.mit.edu	37	chr19	37440970	37440970	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attcatactggggagaaaccTtatgcatgtaaggattgttg	11	5	1	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr19:37440970T>G	uc002ofc.2	+	7	1430	c.915T>G	c.(913-915)CCT>CCG	p.P305P	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Silent_p.P229P|ZNF568_uc010efe.2_Silent_p.P229P|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGGAGAAACCTTATGCATGTA	0.378													G	37440970	T	G	37440970	2	3	32	1	0	0	0	0	0	0	0	1	17996	1596	56	5		5	ZNF568	19	37440970	Silent	SNP	T	TCGA-BR-6457-01A-21D-1800-08	925672	37440970	21688013	130	33412											
LYPD4	147719	broad.mit.edu	37	chr19	42343074	42343074	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaatcttgaggctgttgctTcatagcacaaaagagctcca	9	9	2	3			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr19:42343074T>C	uc002orp.1	-	3	1076	c.92A>G	c.(91-93)GAA>GGA	p.E31G	LYPD4_uc002orq.1_Intron	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4 precursor	31						anchored to membrane|plasma membrane				ovary(1)	1						GGCTGTTGCTTCATAGCACAA	0.502													C	42343074	T	C	42343074	3	2	32	1	0	0	0	0	1	0	0	0	9112	1783	62	3	660	3	LYPD4	19	42343074	Missense_Mutation	SNP	T	TCGA-BR-6457-01A-21D-1800-08	4902104	42343074	16785909	131	33413											
ATP1A3	478	broad.mit.edu	37	chr19	42471430	42471430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcgcaggatgagtttgCggatttcgtcgtagacgaag	14	8	0	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr19:42471430C>T	uc002osg.2	-	22	3138	c.2984G>A	c.(2983-2985)CGC>CAC	p.R995H	ATP1A3_uc010xwf.1_Missense_Mutation_p.R1006H|ATP1A3_uc010xwg.1_Missense_Mutation_p.R965H|ATP1A3_uc010xwh.1_Missense_Mutation_p.R1008H|ATP1A3_uc002osh.2_Missense_Mutation_p.R995H	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	995	Helical; (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						GATGAGTTTGCGGATTTCGTC	0.662													T	42471430	C	T	42471430	3	4	32	1	0	0	0	0	1	0	0	0	1130	768	27	1	65	1	ATP1A3	19	42471430	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	128356	42471430	16657553	132	33414											
PSG1	5669	broad.mit.edu	37	chr19	43348747	43348747	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggtgaatgaagggtaaattCtggggaggtctggaccatct	15	5	3	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr19:43348747C>A	uc002oux.1	-	5	1198	c.1049G>T	c.(1048-1050)AGA>ATA	p.R350I	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Intron|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_RNA|PSG8_uc002oup.3_Intron|PSG10_uc010eip.2_RNA|PSG1_uc002our.1_Intron|PSG1_uc010eio.1_Intron|PSG1_uc002ouy.1_Missense_Mutation_p.R328I	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	336	Ig-like C2-type 3.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				AGGGTAAATTCTGGGGAGGTC	0.483													A	43348747	C	A	43348747	3	1	32	1	0	0	0	0	1	0	0	0	12653	928	32	5		5	PSG1	19	43348747	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	877317	43348747	15780236	133	33415											
ZNF813	126017	broad.mit.edu	37	chr19	53995030	53995030	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaccttgcatgtcatcataGacttcatactggagagaaac	7	10	3	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr19:53995030G>T	uc002qbu.2	+	4	1672	c.1544G>T	c.(1543-1545)AGA>ATA	p.R515I	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	515	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TGTCATCATAGACTTCATACT	0.383													T	53995030	G	T	53995030	3	4	32	1	0	0	0	0	1	0	0	0	18172	942	33	5	1554	5	ZNF813	19	53995030	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	10646283	53995030	5133953	134	33416											
LILRA3	11026	broad.mit.edu	37	chr19	54803095	54803095	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcataaccatagcacctgtaCgaccacctgcgacttgggct	8	14	1	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr19:54803095C>T	uc002qfd.2	-	4	647	c.582G>A	c.(580-582)TCG>TCA	p.S194S	LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Intron	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor,	194	Ig-like C2-type 2.				defense response	extracellular region|plasma membrane	antigen binding|receptor activity			ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGCACCTGTACGACCACCTGC	0.587													T	54803095	C	T	54803095	2	4	32	1	0	0	0	0	0	0	0	1	8786	523	19	1		1	LILRA3	19	54803095	Silent	SNP	C	TCGA-BR-6457-01A-21D-1800-08	808065	54803095	4325888	135	33417											
ZNF471	57573	broad.mit.edu	37	chr19	57036519	57036519	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaggtataacacatctttTattcgtcactggaggagtta	8	6	2	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr19:57036519T>C	uc002qnh.2	+	5	1216	c.1083T>C	c.(1081-1083)TTT>TTC	p.F361F		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	361	C2H2-type 6.		F -> C (in a colorectal cancer sample; somatic mutation).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F361C(1)		large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ACACATCTTTTATTCGTCACT	0.418													C	57036519	T	C	57036519	2	2	32	1	0	0	0	0	0	0	0	1	17927	1751	61	3		3	ZNF471	19	57036519	Silent	SNP	T	TCGA-BR-6457-01A-21D-1800-08	2233424	57036519	2092464	136	33418											
FAM113A	64773	broad.mit.edu	37	chr20	2818920	2818920	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagctccacgccccaggcgtCagccacatgggtcagaagca	11	16	2	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr20:2818920C>T	uc002wgz.1	-	6	1296	c.799G>A	c.(799-801)GAC>AAC	p.D267N	FAM113A_uc002whb.1_Missense_Mutation_p.D118N|FAM113A_uc002wha.1_Missense_Mutation_p.D118N|FAM113A_uc010zqa.1_Missense_Mutation_p.D114N|FAM113A_uc002whc.1_Missense_Mutation_p.D216N|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	hypothetical protein LOC64773	267							hydrolase activity|protein binding			ovary(2)	2						CCCCAGGCGTCAGCCACATGG	0.637													T	2818920	C	T	2818920	3	4	32	1	0	0	0	0	1	0	0	0	5401	826	29	4	577	4	FAM113A	20	2818920	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08		2818920	60206600	137	33419											
C20orf3	57136	broad.mit.edu	37	chr20	24954292	24954292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaacttactgcaagggcccGaaccaaaccgggcaatggtc	10	14	0	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr20:24954292G>A	uc002wty.2	-	4	511	c.410C>T	c.(409-411)TCG>TTG	p.S137L	C20orf3_uc002wtz.2_Missense_Mutation_p.S137L|C20orf3_uc010zsw.1_Missense_Mutation_p.S137L	NM_020531	NP_065392	Q9HDC9	APMAP_HUMAN	chromosome 20 open reading frame 3	137	Extracellular (Potential).				biosynthetic process	cell surface|integral to membrane	arylesterase activity|strictosidine synthase activity			ovary(1)	1						GCAAGGGCCCGAACCAAACCG	0.443													A	24954292	G	A	24954292	3	1	32	1	0	0	0	0	1	0	0	0	2109	1059	37	1	864	1	C20orf3	20	24954292	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08	22135372	24954292	38071228	138	33420											
MYBL2	4605	broad.mit.edu	37	chr20	42344707	42344707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaagcccagccacacatctCggaccctcatcttgtcctga	7	16	3	2			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr20:42344707C>T	uc002xlb.1	+	14	2298	c.2083C>T	c.(2083-2085)CGG>TGG	p.R695W	MYBL2_uc010zwj.1_Missense_Mutation_p.R671W	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	695						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCACACATCTCGGACCCTCAT	0.607													T	42344707	C	T	42344707	3	4	32	1	0	0	0	0	1	0	0	0	10010	875	31	1	2137	1	MYBL2	20	42344707	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	17390415	42344707	20680813	139	33421											
EEF1A2	1917	broad.mit.edu	37	chr20	62126325	62126325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggagtccattttgttcaCgcccacgatgagctgcttca	10	11	2	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr20:62126325C>T	uc002yfd.1	-	3	555	c.454G>A	c.(454-456)GTG>ATG	p.V152M	EEF1A2_uc002yfe.1_Missense_Mutation_p.V152M|EEF1A2_uc010gkg.1_Missense_Mutation_p.V152M	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	152						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			ATTTTGTTCACGCCCACGATG	0.607													T	62126325	C	T	62126325	3	4	32	1	0	0	0	0	1	0	0	0	4924	536	19	1	957	1	EEF1A2	20	62126325	Missense_Mutation	SNP	C	TCGA-BR-6457-01A-21D-1800-08	19781618	62126325	899195	140	33422											
ZDHHC8	29801	broad.mit.edu	37	chr22	20130417	20130417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccatccccaccgctcagcGcctctgatgccttctcgggc	9	20	3	1			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chr22:20130417G>A	uc002zrq.2	+	10	1370	c.1264G>A	c.(1264-1266)GCC>ACC	p.A422T	ZDHHC8_uc002zrr.1_Missense_Mutation_p.A422T|ZDHHC8_uc010gsa.2_Missense_Mutation_p.A228T	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	422	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					ACCGCTCAGCGCCTCTGATGC	0.692													A	20130417	G	A	20130417	3	1	32	1	0	0	0	0	1	0	0	0	17618	1087	38	1	1302	1	ZDHHC8	22	20130417	Missense_Mutation	SNP	G	TCGA-BR-6457-01A-21D-1800-08		20130417	31174149	141	33423											
TAF9B	51616	broad.mit.edu	37	chrX	77393257	77393257	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atttcttacctttttaattaAggacttcagcctatagtttg	5	7	2	0			TCGA-BR-6457-01A-21D-1800-08	TCGA-BR-6457-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6	b862ca4f-f9c3-4a54-9af8-11128af80cc4	g.chrX:77393257A>T	uc004eda.2	-	4	465	c.394T>A	c.(394-396)TTA>ATA	p.L132I		NM_015975	NP_057059	Q9HBM6	TAF9B_HUMAN	transcription associated factor 9B	132					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding				0						TTTTTAATTAAGGACTTCAGC	0.363													T	77393257	A	T	77393257	3	4	32	1	0	0	0	0	1	0	0	0	15533	69	3	5	377	5	TAF9B	23	77393257	Missense_Mutation	SNP	A	TCGA-BR-6457-01A-21D-1800-08		77393257	77877303	142	33424											
C1orf144	26099	broad.mit.edu	37	chr1	16719932	16719932	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcccggaagcggatcctggGcagcgccagccccgaggagg	18	14	0	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:16719932G>C	uc001aym.3	+	3	481	c.311G>C	c.(310-312)GGC>GCC	p.G104A	C1orf144_uc010ocb.1_Missense_Mutation_p.G84A|C1orf144_uc001ayi.3_Missense_Mutation_p.G85A|C1orf144_uc001ayk.3_Missense_Mutation_p.G84A	NM_001114600	NP_001108072	Q7Z422	CA144_HUMAN	putative MAPK activating protein PM20,PM21	104											0		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.12e-05)|Kidney(64;0.00018)|KIRC - Kidney renal clear cell carcinoma(64;0.00267)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CGGATCCTGGGCAGCGCCAGC	0.677													C	16719932	G	C	16719932	3	2	33	1	0	0	0	0	1	0	0	0	2002	1203	42	5	321	5	C1orf144	1	16719932	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08		16719932	232530689	1	33425											
CSMD2	114784	broad.mit.edu	37	chr1	34238265	34238265	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcgggctggcactcaaacTtgagtgtgtcaccgtggtga	15	9	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:34238265T>G	uc001bxn.1	-	13	1660	c.1631A>C	c.(1630-1632)AAG>ACG	p.K544T	CSMD2_uc001bxm.1_Missense_Mutation_p.K584T	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	544	Sushi 3.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCACTCAAACTTGAGTGTGTC	0.557													G	34238265	T	G	34238265	3	3	33	1	0	0	0	0	1	0	0	0	3945	1609	56	5	9060	5	CSMD2	1	34238265	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	17518333	34238265	215012356	2	33426											
GJA9	81025	broad.mit.edu	37	chr1	39341098	39341098	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatttcaagaatgtttaAgaaaagtgaaatagtggcta	9	2	1	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:39341098A>C	uc001cct.1	-	2	954	c.673T>G	c.(673-675)TTA>GTA	p.L225V	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	NM_030772	NP_110399	P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	225	Helical; (Potential).				cell communication	connexon complex|integral to membrane					0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AGAATGTTTAAGAAAAGTGAA	0.328													C	39341098	A	C	39341098	3	2	33	1	0	0	0	0	1	0	0	0	6406	69	3	5	878	5	GJA9	1	39341098	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	5102833	39341098	209909523	3	33427											
RLF	6018	broad.mit.edu	37	chr1	40704945	40704945	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtggcttaatcaaagaaaAgaaagccccaataagtttta	7	6	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:40704945A>C	uc001cfc.3	+	8	4602	c.4571A>C	c.(4570-4572)AAG>ACG	p.K1524T	RLF_uc001cfd.3_Missense_Mutation_p.K1215T	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1524					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATCAAAGAAAAGAAAGCCCCA	0.433													C	40704945	A	C	40704945	3	2	33	1	0	0	0	0	1	0	0	0	13389	72	3	5	4601	5	RLF	1	40704945	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	1363847	40704945	208545676	4	33428											
RLF	6018	broad.mit.edu	37	chr1	40705056	40705056	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggatgcttatctgtggtgaAgttggagagcagcattgtga	15	4	1	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:40705056A>C	uc001cfc.3	+	8	4713	c.4682A>C	c.(4681-4683)AAG>ACG	p.K1561T	RLF_uc001cfd.3_Missense_Mutation_p.K1252T	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1561	C2H2-type 14.				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TCTGTGGTGAAGTTGGAGAGC	0.453													C	40705056	A	C	40705056	3	2	33	1	0	0	0	0	1	0	0	0	13389	72	3	5	4712	5	RLF	1	40705056	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	111	40705056	208545565	5	33429											
PGM1	5236	broad.mit.edu	37	chr1	64097413	64097413	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaagaactactttctggGccaaaccgactgaagatccg	9	11	1	4			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:64097413G>A	uc001dbh.2	+	4	855	c.642G>A	c.(640-642)GGG>GGA	p.G214G	PGM1_uc010ooy.1_Silent_p.G17G|PGM1_uc010ooz.1_Silent_p.G232G	NM_002633	NP_002624	P36871	PGM1_HUMAN	phosphoglucomutase 1	214					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			ovary(2)|kidney(1)	3						TACTTTCTGGGCCAAACCGAC	0.418													A	64097413	G	A	64097413	2	1	33	1	0	0	0	0	0	0	0	1	11797	1190	42	2		2	PGM1	1	64097413	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08	23392357	64097413	185153208	6	33430											
COL24A1	255631	broad.mit.edu	37	chr1	86590762	86590762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgcatttccatgagttcGttagtgtgtagatttgctgt	12	5	0	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:86590762G>A	uc001dlj.2	-	3	1299	c.1257C>T	c.(1255-1257)AAC>AAT	p.N419N	COL24A1_uc010osd.1_Translation_Start_Site|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Silent_p.N419N	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	419					cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCATGAGTTCGTTAGTGTGTA	0.363													A	86590762	G	A	86590762	2	1	33	1	0	0	0	0	0	0	0	1	3683	1136	40	1		1	COL24A1	1	86590762	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08	22493349	86590762	162659859	7	33431											
GBP4	115361	broad.mit.edu	37	chr1	89657186	89657186	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattttgaattttgggattcTtgcctgtggaattgtaaaaa	9	3	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:89657186T>C	uc001dnb.2	-	6	790	c.674A>G	c.(673-675)AAG>AGG	p.K225R		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	225						cytoplasm	GTP binding|GTPase activity				0				all cancers(265;0.00723)|Epithelial(280;0.0291)		TTTGGGATTCTTGCCTGTGGA	0.473													C	89657186	T	C	89657186	3	2	33	1	0	0	0	0	1	0	0	0	6276	1609	56	3	1272	3	GBP4	1	89657186	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	3066424	89657186	159593435	8	33432											
CCDC18	343099	broad.mit.edu	37	chr1	93705450	93705450	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaggatctcacagctgaacTtaggtgagttaaataataag	9	5	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:93705450T>G	uc001dpq.2	+	21	3500	c.3332T>G	c.(3331-3333)CTT>CGT	p.L1111R	CCDC18_uc009wdl.1_Missense_Mutation_p.L628R	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	992	Potential.									ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		ACAGCTGAACTTAGGTGAGTT	0.313													G	93705450	T	G	93705450	3	3	33	1	0	0	0	0	1	0	0	0	2794	1609	56	5	3414	5	CCDC18	1	93705450	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	4048264	93705450	155545171	9	33433											
SPAG17	200162	broad.mit.edu	37	chr1	118558604	118558604	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataccgttccattgacaggaTctgtggcctgaaaggataac	10	9	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:118558604T>C	uc001ehk.2	-	29	4339	c.4271A>G	c.(4270-4272)GAT>GGT	p.D1424G		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1424						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATTGACAGGATCTGTGGCCTG	0.343													C	118558604	T	C	118558604	3	2	33	1	0	0	0	0	1	0	0	0	14979	1435	50	3	2480	3	SPAG17	1	118558604	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	24853154	118558604	130692017	10	33434											
NBPF7	343505	broad.mit.edu	37	chr1	120378693	120378693	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acatcctgagcagagcaaacTttctgttcaactagtgccaa	7	11	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:120378693T>G	uc010oxk.1	-	7	1674	c.1053A>C	c.(1051-1053)AAA>AAC	p.K351N		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	hypothetical protein LOC343505	351	NBPF 2.					cytoplasm				ovary(1)|skin(1)	2	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		CAGAGCAAACTTTCTGTTCAA	0.488													G	120378693	T	G	120378693	3	3	33	1	0	0	0	0	1	0	0	0	10198	1606	56	5	219	5	NBPF7	1	120378693	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	1820089	120378693	128871928	11	33435											
PDE4DIP	9659	broad.mit.edu	37	chr1	144866714	144866714	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaagatgctcttccagcAggtcagcccctgcggccaaa	9	16	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:144866714A>C	uc001elw.3	-	34	5819	c.5528T>G	c.(5527-5529)CTG>CGG	p.L1843R	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.L1737R|PDE4DIP_uc001elv.3_Missense_Mutation_p.L850R|PDE4DIP_uc001ema.2_Missense_Mutation_p.L30R	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1843	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCTTCCAGCAGGTCAGCCCC	0.607			T	PDGFRB	MPD								C	144866714	A	C	144866714	3	2	33	1	0	0	0	0	1	0	0	0	11643	188	7	5	1556	5	PDE4DIP	1	144866714	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	24488021	144866714	104383907	12	33436											
LINGO4	339398	broad.mit.edu	37	chr1	151774162	151774162	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaagggaaagctgtttccTctagtgtctgaagggcgtta	14	6	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:151774162T>C	uc001ezf.1	-	2	1209	c.1019A>G	c.(1018-1020)GAG>GGG	p.E340G		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	340	Extracellular (Potential).|LRR 11.					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGCTGTTTCCTCTAGTGTCTG	0.592													C	151774162	T	C	151774162	3	2	33	1	0	0	0	0	1	0	0	0	8817	1551	54	3	766	3	LINGO4	1	151774162	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	6907448	151774162	97476459	13	33437											
NES	10763	broad.mit.edu	37	chr1	156640713	156640713	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccgcagcagactcacccatGgcaggctctgaccccaacat	8	18	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:156640713G>C	uc001fpq.2	-	4	3400	c.3267C>G	c.(3265-3267)GCC>GCG	p.A1089A		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1089	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACTCACCCATGGCAGGCTCTG	0.677													C	156640713	G	C	156640713	2	2	33	1	0	0	0	0	0	0	0	1	10337	1335	47	5		5	NES	1	156640713	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08	4866551	156640713	92609908	14	33438											
SPTA1	6708	broad.mit.edu	37	chr1	158619716	158619716	+	Frame_Shift_Del	DEL	A	A	-													atctgcaagcctctgcaaagAaccccagcgggaattcaatt							TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:158619716delA	uc001fst.1	-	25	3698	c.3499delT	c.(3499-3501)TCTfs	p.S1167fs		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1167	Spectrin 11.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CTCTGCAAAGAACCCCAGCGG	0.463													-	158619716	A	-	158619716	7	5	33	1	0	1	0	1	0	0	0	0	15115	246	9	0	3872	0	SPTA1	1	158619716	Frame_Shift_Del	DEL	A	TCGA-BR-6458-01A-11D-1800-08	1979003	158619716	90630905	15	33439											
MNDA	4332	broad.mit.edu	37	chr1	158815416	158815416	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacggcaggtggatgcaagaAgaaatgttccccaaaacgac	11	9	0	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:158815416A>C	uc001fsz.1	+	5	810	c.610A>C	c.(610-612)AGA>CGA	p.R204R		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	204	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					GGATGCAAGAAGAAATGTTCC	0.423													C	158815416	A	C	158815416	2	2	33	1	0	0	0	0	0	0	0	1	9676	64	3	5		5	MNDA	1	158815416	Silent	SNP	A	TCGA-BR-6458-01A-11D-1800-08	195700	158815416	90435205	16	33440											
FCRL6	343413	broad.mit.edu	37	chr1	159778997	159778997	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcccctgagggtggccaggTccagaagcagagcccccagc	15	15	0	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:159778997T>G	uc001fud.3	+	4	608	c.566T>G	c.(565-567)GTC>GGC	p.V189G	FCRL6_uc010pix.1_3'UTR|FCRL6_uc001fuc.2_Missense_Mutation_p.V196G|FCRL6_uc009wsz.1_Intron|FCRL6_uc009wta.2_Missense_Mutation_p.V189G	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6 precursor	189	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.0597)					GGTGGCCAGGTCCAGAAGCAG	0.657													G	159778997	T	G	159778997	3	3	33	1	0	0	0	0	1	0	0	0	5799	1667	58	5	580	5	FCRL6	1	159778997	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	963581	159778997	89471624	17	33441											
ZNF648	127665	broad.mit.edu	37	chr1	182025473	182025473	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaagggatgggctccttcTtgcaggtgccgtgcttggct	16	9	1	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:182025473T>C	uc001goz.2	-	2	1881	c.1673A>G	c.(1672-1674)AAG>AGG	p.K558R		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GGGCTCCTTCTTGCAGGTGCC	0.587													C	182025473	T	C	182025473	3	2	33	1	0	0	0	0	1	0	0	0	18060	1609	56	3	37	3	ZNF648	1	182025473	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	22246476	182025473	67225148	18	33442											
CRB1	23418	broad.mit.edu	37	chr1	197404424	197404424	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagttaaatgtctgcaActccaacccctgtttgcatg	7	11	1	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:197404424A>C	uc001gtz.2	+	9	3566	c.3431A>C	c.(3430-3432)AAC>ACC	p.N1144T	CRB1_uc010poz.1_Missense_Mutation_p.N1120T|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.N1032T|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.N625T|CRB1_uc001gub.1_Missense_Mutation_p.N793T	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	1144	Extracellular (Potential).|EGF-like 15.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						AATGTCTGCAACTCCAACCCC	0.423													C	197404424	A	C	197404424	3	2	33	1	0	0	0	0	1	0	0	0	3848	43	2	5	3465	5	CRB1	1	197404424	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	15378951	197404424	51846197	19	33443											
PPFIA4	8497	broad.mit.edu	37	chr1	203045504	203045504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacggacacatgctctccGccttccgggactagccatgg	10	15	2	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:203045504G>A	uc001gyz.2	+	17	2685	c.2092G>A	c.(2092-2094)GCC>ACC	p.A698T	PPFIA4_uc009xaj.2_Missense_Mutation_p.A1329T|PPFIA4_uc010pqf.1_Missense_Mutation_p.A911T|PPFIA4_uc001gza.2_Missense_Mutation_p.A689T|PPFIA4_uc001gzb.1_3'UTR|PPFIA4_uc001gzc.1_3'UTR	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	698					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						CATGCTCTCCGCCTTCCGGGA	0.617													A	203045504	G	A	203045504	3	1	33	1	0	0	0	0	1	0	0	0	12312	1087	38	1	2158	1	PPFIA4	1	203045504	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	5641080	203045504	46205117	20	33444											
IL19	29949	broad.mit.edu	37	chr1	206972263	206972263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcactgagggagcgtttccGcacagatctgcgtgttcctt	12	11	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:206972263G>A	uc001heo.2	+	1	49	c.24G>A	c.(22-24)CCG>CCA	p.P8P		NM_153758	NP_715639	Q9UHD0	IL19_HUMAN	interleukin 19 isoform 1 precursor	Error:Variant_position_missing_in_Q9UHD0_after_alignment					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(75;0.211)			GAGCGTTTCCGCACAGATCTG	0.483													A	206972263	G	A	206972263	2	1	33	1	0	0	0	0	0	0	0	1	7649	1074	38	1		1	IL19	1	206972263	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08	3926759	206972263	42278358	21	33445											
G0S2	50486	broad.mit.edu	37	chr1	209849270	209849270	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctccagaagcaagccctgCaggagaaaggcaagcagcag	12	12	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:209849270C>A	uc001hhi.3	+	2	498	c.241C>A	c.(241-243)CAG>AAG	p.Q81K		NM_015714	NP_056529	P27469	G0S2_HUMAN	G0/G1switch 2	81					cell cycle						0				OV - Ovarian serous cystadenocarcinoma(81;0.041)		GCAAGCCCTGCAGGAGAAAGG	0.701													A	209849270	C	A	209849270	3	1	33	1	0	0	0	0	1	0	0	0	6139	711	25	5	243	5	G0S2	1	209849270	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	2877007	209849270	39401351	22	33446											
TGFB2	7042	broad.mit.edu	37	chr1	218607431	218607431	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcccctccagattctcaAgtccaaagatttaacatctc	3	13	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:218607431A>C	uc001hlm.2	+	3	1171	c.518A>C	c.(517-519)AAG>ACG	p.K173T	TGFB2_uc001hln.2_Missense_Mutation_p.K201T|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	NM_003238	NP_003229	P61812	TGFB2_HUMAN	transforming growth factor, beta 2 isoform 2	173					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding				0				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CAGATTCTCAAGTCCAAAGAT	0.423													C	218607431	A	C	218607431	3	2	33	1	0	0	0	0	1	0	0	0	15815	72	3	5	616	5	TGFB2	1	218607431	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	8758161	218607431	30643190	23	33447											
MIA3	375056	broad.mit.edu	37	chr1	222794619	222794619	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaagaggatggcctgaAgtttgggctggaagtgtaag	17	5	0	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:222794619A>T	uc001hnl.2	+	2	261	c.252A>T	c.(250-252)GAA>GAT	p.E84D		NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	84	SH3.|Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		GATGGCCTGAAGTTTGGGCTG	0.363													T	222794619	A	T	222794619	3	4	33	1	0	0	0	0	1	0	0	0	9565	69	3	5	258	5	MIA3	1	222794619	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	4187188	222794619	26456002	24	33448											
OBSCN	84033	broad.mit.edu	37	chr1	228462138	228462138	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaccagtgcgcagctcacCgtcagtggtatgtaaggggt	13	11	2	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:228462138C>T	uc009xez.1	+	19	5720	c.5676C>T	c.(5674-5676)ACC>ACT	p.T1892T	OBSCN_uc001hsn.2_Silent_p.T1892T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1892	Ig-like 18.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CGCAGCTCACCGTCAGTGGTA	0.637													T	228462138	C	T	228462138	2	4	33	1	0	0	0	0	0	0	0	1	10812	639	23	1		1	OBSCN	1	228462138	Silent	SNP	C	TCGA-BR-6458-01A-11D-1800-08	5667519	228462138	20788483	25	33449											
KIAA1804	84451	broad.mit.edu	37	chr1	233512225	233512225	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggtcaactatcttaataAaaaatcagaaaaccatgccc	4	10	3	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:233512225A>C	uc001hvt.3	+	8	2137	c.1876A>C	c.(1876-1878)AAA>CAA	p.K626Q	KIAA1804_uc001hvu.3_Missense_Mutation_p.K72Q	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	626					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				TATCTTAATAAAAAATCAGAA	0.413													C	233512225	A	C	233512225	3	2	33	1	0	0	0	0	1	0	0	0	8259	15	1	5	1906	5	KIAA1804	1	233512225	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	5050087	233512225	15738396	26	33450											
TFB2M	64216	broad.mit.edu	37	chr1	246707908	246707908	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attatagttcataggtgttaAgttcttggtaaataaatttt	7	2	2	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:246707908A>T	uc001ibn.2	-	7	1059	c.934T>A	c.(934-936)TTA>ATA	p.L312I		NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	312					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			ovary(1)	1	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			ATAGGTGTTAAGTTCTTGGTA	0.333													T	246707908	A	T	246707908	3	4	33	1	0	0	0	0	1	0	0	0	15791	69	3	5	264	5	TFB2M	1	246707908	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	13195683	246707908	2542713	27	33451											
OR2B11	127623	broad.mit.edu	37	chr1	247614782	247614782	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcagaatggcaattgcAccgtcaggaccacctgcacg	11	15	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:247614782A>T	uc010pyx.1	-	1	503	c.503T>A	c.(502-504)GTG>GAG	p.V168E		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B,	168	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)	1	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGCAATTGCACCGTCAGGAC	0.592													T	247614782	A	T	247614782	3	4	33	1	0	0	0	0	1	0	0	0	10988	159	6	5	453	5	OR2B11	1	247614782	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	906874	247614782	1635839	28	33452											
OR2T6	254879	broad.mit.edu	37	chr1	248551780	248551780	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattaaaccctctcatctacAgtctgaggaacagggatgtg	9	9	3	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr1:248551780A>G	uc001iei.1	+	1	871	c.871A>G	c.(871-873)AGT>GGT	p.S291G		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	291	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTCATCTACAGTCTGAGGAA	0.448													G	248551780	A	G	248551780	3	3	33	1	0	0	0	0	1	0	0	0	11029	188	7	3	873	3	OR2T6	1	248551780	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	936998	248551780	698841	29	33453											
PXDN	7837	broad.mit.edu	37	chr2	1647273	1647273	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgtccgcgttgtcgcatagGatcctggccagcgacgtctg	13	12	1	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:1647273G>T	uc002qxa.2	-	19	3883	c.3819C>A	c.(3817-3819)ATC>ATA	p.I1273I		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1273					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGTCGCATAGGATCCTGGCCA	0.612													T	1647273	G	T	1647273	2	4	33	1	0	0	0	0	0	0	0	1	12847	1164	41	5		5	PXDN	2	1647273	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08		1647273	241552100	30	33454											
PXDN	7837	broad.mit.edu	37	chr2	1652724	1652724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcagcggcttcccggacCgctgcacgatgccctgccgc	14	17	0	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:1652724C>T	uc002qxa.2	-	17	2892	c.2828G>A	c.(2827-2829)CGG>CAG	p.R943Q		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	943					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTTCCCGGACCGCTGCACGAT	0.711													T	1652724	C	T	1652724	3	4	33	1	0	0	0	0	1	0	0	0	12847	652	23	1	1639	1	PXDN	2	1652724	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	5451	1652724	241546649	31	33455											
COLEC11	78989	broad.mit.edu	37	chr2	3691528	3691528	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgacctggagaaggagggCgccttcgtgtactctgacca	13	11	1	2	rs141570591	by1000genomes	TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:3691528C>T	uc002qya.2	+	7	784	c.636C>T	c.(634-636)GGC>GGT	p.G212G	COLEC11_uc002qxz.2_Silent_p.G209G|COLEC11_uc002qyb.2_Silent_p.G188G|COLEC11_uc002qyc.2_Silent_p.G188G|COLEC11_uc010ewo.2_Silent_p.G164G|COLEC11_uc010ewp.2_Silent_p.G186G|COLEC11_uc010ewq.2_Silent_p.G162G|COLEC11_uc010ewr.2_Silent_p.G162G|COLEC11_uc010ews.2_Silent_p.G138G	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	collectin sub-family member 11 isoform a	212	C-type lectin.					collagen	mannose binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		AGAAGGAGGGCGCCTTCGTGT	0.632													T	3691528	C	T	3691528	2	4	33	1	0	0	0	0	0	0	0	1	3711	755	27	1		1	COLEC11	2	3691528	Silent	SNP	C	TCGA-BR-6458-01A-11D-1800-08	2038804	3691528	239507845	32	33456											
NT5C1B	93034	broad.mit.edu	37	chr2	18765460	18765460	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtagattttcctgccgTccaccatgttgaagagcgcg	11	12	0	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:18765460T>C	uc002rcz.2	-	6	1069	c.965A>G	c.(964-966)GAC>GGC	p.D322G	NT5C1B_uc002rcy.2_Missense_Mutation_p.D322G|NT5C1B_uc010exr.2_Missense_Mutation_p.D264G|NT5C1B_uc010yju.1_Missense_Mutation_p.D262G|NT5C1B_uc002rda.2_Missense_Mutation_p.D262G|NT5C1B_uc010yjv.1_Missense_Mutation_p.D339G|NT5C1B_uc010yjw.1_Missense_Mutation_p.D305G|NT5C1B_uc010exs.2_Missense_Mutation_p.D324G|NT5C1B_uc002rdb.1_Missense_Mutation_p.D114G	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 1	322					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TTTCCTGCCGTCCACCATGTT	0.557													C	18765460	T	C	18765460	3	2	33	1	0	0	0	0	1	0	0	0	10686	1667	58	3	887	3	NT5C1B	2	18765460	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	15073932	18765460	224433913	33	33457											
APOB	338	broad.mit.edu	37	chr2	21256384	21256384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaatgcgaggcccatcttcTtagtacctggaagatggaaa	10	9	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:21256384T>C	uc002red.2	-	9	1039	c.911A>G	c.(910-912)AAG>AGG	p.K304R		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	304	Vitellogenin.|Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCCCATCTTCTTAGTACCTGG	0.443													C	21256384	T	C	21256384	3	2	33	1	0	0	0	0	1	0	0	0	785	1609	56	3	12864	3	APOB	2	21256384	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	2490924	21256384	221942989	34	33458											
ITSN2	50618	broad.mit.edu	37	chr2	24507636	24507636	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatattagaaaataaccttaAgtaagaggaagaggttgttg	11	2	0	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:24507636A>C	uc002rfe.2	-	17	2198	c.1940T>G	c.(1939-1941)CTT>CGT	p.L647R	ITSN2_uc002rff.2_Intron|ITSN2_uc002rfg.2_Missense_Mutation_p.L647R	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	647	Potential.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATAACCTTAAGTAAGAGGAA	0.338													C	24507636	A	C	24507636	3	2	33	1	0	0	0	0	1	0	0	0	7927	72	3	5	3300	5	ITSN2	2	24507636	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	3251252	24507636	218691737	35	33459											
PRKD3	23683	broad.mit.edu	37	chr2	37483980	37483980	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taacctttgctccggagaacTtcaggggctaagtatgctgg	12	9	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:37483980T>G	uc002rqd.2	-	16	2793	c.2238A>C	c.(2236-2238)GAA>GAC	p.E746D	PRKD3_uc002rqe.1_Missense_Mutation_p.E346D	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	746	Protein kinase.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				TCCGGAGAACTTCAGGGGCTA	0.458													G	37483980	T	G	37483980	3	3	33	1	0	0	0	0	1	0	0	0	12520	1606	56	5	446	5	PRKD3	2	37483980	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	12976344	37483980	205715393	36	33460											
FSHR	2492	broad.mit.edu	37	chr2	49190889	49190889	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgttgtaccccatgatatcTtcacatgggttgaatgcatc	8	9	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:49190889T>C	uc002rww.2	-	10	1145	c.1071A>G	c.(1069-1071)GAA>GAG	p.E357E	FSHR_uc002rwx.2_Silent_p.E295E|FSHR_uc010fbn.2_Silent_p.E331E	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	357	Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CCATGATATCTTCACATGGGT	0.463									Gonadal_Dysgenesis_46_XX				C	49190889	T	C	49190889	2	2	33	1	0	0	0	0	0	0	0	1	6073	1606	56	3		3	FSHR	2	49190889	Silent	SNP	T	TCGA-BR-6458-01A-11D-1800-08	11706909	49190889	194008484	37	33461											
ATP6V1B1	525	broad.mit.edu	37	chr2	71192185	71192185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagcgcattccgcaggcCgtgatcgacgagttctattc	11	12	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:71192185C>T	uc002shj.2	+	14	1563	c.1476C>T	c.(1474-1476)GCC>GCT	p.A492A	ATP6V1B1_uc010fdv.2_Silent_p.A475A|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Silent_p.A450A	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	492					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1						TTCCGCAGGCCGTGATCGACG	0.672											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	71192185	C	T	71192185	2	4	33	1	0	0	0	0	0	0	0	1	1178	639	23	1		1	ATP6V1B1	2	71192185	Silent	SNP	C	TCGA-BR-6458-01A-11D-1800-08	22001296	71192185	172007188	38	33462											
ALMS1	7840	broad.mit.edu	37	chr2	73835667	73835667	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagagaaaatcagaatataAgtcataccggctgcgagccc	10	9	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:73835667A>C	uc002sje.1	+	24	12542	c.12431A>C	c.(12430-12432)AAG>ACG	p.K4144T	ALMS1_uc002sjf.1_Missense_Mutation_p.K4100T	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4142					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						TCAGAATATAAGTCATACCGG	0.428													C	73835667	A	C	73835667	3	2	33	1	0	0	0	0	1	0	0	0	535	72	3	5	12511	5	ALMS1	2	73835667	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	2643482	73835667	169363706	39	33463											
FER1L5	90342	broad.mit.edu	37	chr2	97370410	97370410	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtgatattttcccagaacTtccagccccaggagactaat	8	11	0	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:97370410T>G	uc010fia.2	+	52	6263	c.6263T>G	c.(6262-6264)CTT>CGT	p.L2088R	FER1L5_uc002sws.3_Missense_Mutation_p.L797R|FER1L5_uc002swt.3_Missense_Mutation_p.L797R|FER1L5_uc010yus.1_Missense_Mutation_p.L796R	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	2088						integral to membrane				ovary(1)	1						TTCCCAGAACTTCCAGCCCCA	0.507													G	97370410	T	G	97370410	3	3	33	1	0	0	0	0	1	0	0	0	5814	1609	56	5	6469	5	FER1L5	2	97370410	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	23534743	97370410	145828963	40	33464											
CNGA3	1261	broad.mit.edu	37	chr2	99013210	99013210	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacatcatcaacgagggcaAgctggccgtggtggctgatg	15	9	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:99013210A>C	uc002syt.2	+	8	1994	c.1577A>C	c.(1576-1578)AAG>ACG	p.K526T	CNGA3_uc002syu.2_Missense_Mutation_p.K508T|CNGA3_uc010fij.2_Missense_Mutation_p.K530T	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	526	cGMP.				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						AACGAGGGCAAGCTGGCCGTG	0.552													C	99013210	A	C	99013210	3	2	33	1	0	0	0	0	1	0	0	0	3598	72	3	5	1603	5	CNGA3	2	99013210	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	1642800	99013210	144186163	41	33465											
C2orf55	343990	broad.mit.edu	37	chr2	99439852	99439852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcggcaagggcgccggtGgcccaggctcagggcctctg	19	13	2	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:99439852G>A	uc002szf.1	-	7	1178	c.884C>T	c.(883-885)CCA>CTA	p.P295L		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	295	Pro-rich.										0						GGGCGCCGGTGGCCCAGGCTC	0.721													A	99439852	G	A	99439852	3	1	33	1	0	0	0	0	1	0	0	0	2176	1348	47	4	2020	4	C2orf55	2	99439852	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	426642	99439852	143759521	42	33466											
AFF3	3899	broad.mit.edu	37	chr2	100203726	100203726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgatctccctgtagtcGtcttcgttgtcacactgtat	7	11	4	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:100203726G>A	uc002tag.2	-	15	2717	c.2481C>T	c.(2479-2481)GAC>GAT	p.D827D	AFF3_uc002taf.2_Silent_p.D852D|AFF3_uc010fiq.1_Silent_p.D827D|AFF3_uc010yvr.1_Silent_p.D980D|AFF3_uc002tah.1_Silent_p.D852D	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	827					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						CCCTGTAGTCGTCTTCGTTGT	0.473													A	100203726	G	A	100203726	2	1	33	1	0	0	0	0	0	0	0	1	358	1136	40	1		1	AFF3	2	100203726	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08	763874	100203726	142995647	43	33467											
IL1F5	26525	broad.mit.edu	37	chr2	113820164	113820164	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtgcacggtgcctgaAgccgatcagcctgtcagact	11	13	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:113820164A>G	uc002tis.2	+	5	511	c.378A>G	c.(376-378)GAA>GAG	p.E126E	IL1F5_uc002tit.2_Silent_p.E126E	NM_173170	NP_775262	Q9UBH0	I36RA_HUMAN	interleukin 1 family, member 5	126						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity				0						CGGTGCCTGAAGCCGATCAGC	0.602													G	113820164	A	G	113820164	2	3	33	1	0	0	0	0	0	0	0	1	7653	69	3	3		3	IL1F5	2	113820164	Silent	SNP	A	TCGA-BR-6458-01A-11D-1800-08	13616438	113820164	129379209	44	33468											
ZEB2	9839	broad.mit.edu	37	chr2	145157299	145157299	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgtgataacctttcaaCtttgaaatttcttcagcctt	4	9	4	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:145157299C>G	uc002tvu.2	-	8	1935	c.1455G>C	c.(1453-1455)AAG>AAC	p.K485N	ZEB2_uc002tvv.2_Missense_Mutation_p.K479N|ZEB2_uc010zbm.1_Missense_Mutation_p.K456N|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.K514N	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	485	SMAD-MH2 binding domain (By similarity).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		AACCTTTCAACTTTGAAATTT	0.408													G	145157299	C	G	145157299	3	3	33	1	0	0	0	0	1	0	0	0	17621	564	20	5	2201	5	ZEB2	2	145157299	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	31337135	145157299	98042074	45	33469											
ZEB2	9839	broad.mit.edu	37	chr2	145157311	145157311	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttcaactttgaaatttcTtcagccttgcagtccatttt	4	11	3	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:145157311T>C	uc002tvu.2	-	8	1923	c.1443A>G	c.(1441-1443)GAA>GAG	p.E481E	ZEB2_uc002tvv.2_Silent_p.E475E|ZEB2_uc010zbm.1_Silent_p.E452E|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Silent_p.E510E	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	481	SMAD-MH2 binding domain (By similarity).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTGAAATTTCTTCAGCCTTGC	0.418													C	145157311	T	C	145157311	2	2	33	1	0	0	0	0	0	0	0	1	17621	1606	56	3		3	ZEB2	2	145157311	Silent	SNP	T	TCGA-BR-6458-01A-11D-1800-08	12	145157311	98042062	46	33470											
NEB	4703	broad.mit.edu	37	chr2	152470950	152470950	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtccactgggctgctgaacTtggtcttccacttctcaaac	8	13	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:152470950T>A	uc010fnx.2	-	73	10903	c.10712A>T	c.(10711-10713)AAG>ATG	p.K3571M		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3571					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTGCTGAACTTGGTCTTCCA	0.517													A	152470950	T	A	152470950	3	1	33	1	0	0	0	0	1	0	0	0	10302	1609	56	5	14669	5	NEB	2	152470950	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	7313639	152470950	90728423	47	33471											
GALNT13	114805	broad.mit.edu	37	chr2	155295112	155295112	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatattttcaggtattttcTtacactgctgacaaagaaat	5	6	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:155295112T>G	uc002tyr.3	+	12	1971	c.1404T>G	c.(1402-1404)TCT>TCG	p.S468S	GALNT13_uc002tyt.3_Silent_p.S468S|GALNT13_uc010fod.2_Intron|uc002tyu.1_Intron	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	468	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.S468Y(1)		ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						AGGTATTTTCTTACACTGCTG	0.313													G	155295112	T	G	155295112	2	3	33	1	0	0	0	0	0	0	0	1	6211	1596	56	5		5	GALNT13	2	155295112	Silent	SNP	T	TCGA-BR-6458-01A-11D-1800-08	2824162	155295112	87904261	48	33472											
KCNH7	90134	broad.mit.edu	37	chr2	163693107	163693107	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaccccagcaatgcctgggCaatttgggcaatatcatgcc	10	12	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:163693107C>A	uc002uch.1	-	2	459	c.247G>T	c.(247-249)GCC>TCC	p.A83S	KCNH7_uc002uci.2_Missense_Mutation_p.A83S	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	83	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	AATGCCTGGGCAATTTGGGCA	0.468													A	163693107	C	A	163693107	3	1	33	1	0	0	0	0	1	0	0	0	8037	710	25	5	3469	5	KCNH7	2	163693107	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	8397995	163693107	79506266	49	33473											
PHOSPHO2	493911	broad.mit.edu	37	chr2	170557595	170557595	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctattgaactacgtgattcTtatcgaaaaggattttggac	8	7	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:170557595T>G	uc002ufg.2	+	4	502	c.114T>G	c.(112-114)TCT>TCG	p.S38S	KLHL23_uc002ufh.1_Intron	NM_001008489	NP_001008489	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	38							metal ion binding|pyridoxal phosphatase activity			skin(1)	1						TACGTGATTCTTATCGAAAAG	0.353													G	170557595	T	G	170557595	2	3	33	1	0	0	0	0	0	0	0	1	11857	1596	56	5		5	PHOSPHO2	2	170557595	Silent	SNP	T	TCGA-BR-6458-01A-11D-1800-08	6864488	170557595	72641778	50	33474											
HOXD10	3236	broad.mit.edu	37	chr2	176983956	176983956	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accgccaacctcacgttttcTtaggtctgaggccggtctga	10	13	4	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:176983956T>G	uc002ukj.2	+	2	1090	c.1020T>G	c.(1018-1020)TCT>TCG	p.S340S		NM_002148	NP_002139	P28358	HXD10_HUMAN	homeobox D10	340						nucleus	sequence-specific DNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TCACGTTTTCTTAggtctgag	0.448													G	176983956	T	G	176983956	2	3	33	1	0	0	0	0	0	0	0	1	7319	1596	56	5		5	HOXD10	2	176983956	Silent	SNP	T	TCGA-BR-6458-01A-11D-1800-08	6426361	176983956	66215417	51	33475											
ITGAV	3685	broad.mit.edu	37	chr2	187521058	187521058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctacagcaggtccccaaGtcactccaagaacatgacta	6	14	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:187521058G>A	uc002upq.2	+	17	1925	c.1649G>A	c.(1648-1650)AGT>AAT	p.S550N	ITGAV_uc010frs.2_Missense_Mutation_p.S514N|ITGAV_uc010zfv.1_Missense_Mutation_p.S504N	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	550	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		AGGTCCCCAAGTCACTCCAAG	0.453													A	187521058	G	A	187521058	3	1	33	1	0	0	0	0	1	0	0	0	7888	1029	36	4	1766	4	ITGAV	2	187521058	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	10537102	187521058	55678315	52	33476											
MFSD6	54842	broad.mit.edu	37	chr2	191301390	191301390	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcaatgtctcagacaccgTtactttgccaacagctccaa	6	14	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:191301390T>G	uc002urz.2	+	3	959	c.635T>G	c.(634-636)GTT>GGT	p.V212G		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	212					transmembrane transport	integral to membrane				ovary(2)	2						TCAGACACCGTTACTTTGCCA	0.438													G	191301390	T	G	191301390	3	3	33	1	0	0	0	0	1	0	0	0	9535	1725	60	5	637	5	MFSD6	2	191301390	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	3780332	191301390	51897983	53	33477											
ALS2CR4	65062	broad.mit.edu	37	chr2	202489002	202489002	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaagaggctttgatttctttCtctttatcaggatattcttc	7	7	4	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:202489002C>G	uc002uyh.1	-	14	1304	c.1203G>C	c.(1201-1203)GAG>GAC	p.E401D	ALS2CR4_uc002uyg.1_Missense_Mutation_p.E393D|ALS2CR4_uc010zho.1_Missense_Mutation_p.E196D	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	425						integral to membrane	protein binding				0						TGATTTCTTTCTCTTTATCAG	0.343													G	202489002	C	G	202489002	3	3	33	1	0	0	0	0	1	0	0	0	554	912	32	5	27	5	ALS2CR4	2	202489002	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	11187612	202489002	40710371	54	33478											
DYTN	391475	broad.mit.edu	37	chr2	207527659	207527659	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagattgaaggcatccataAgttttgacaatagttcttgc	8	7	1	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:207527659A>G	uc002vbr.1	-	11	1718	c.1601T>C	c.(1600-1602)CTT>CCT	p.L534P		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	dystrotelin	534	Potential.					plasma membrane	zinc ion binding			ovary(1)|central_nervous_system(1)	2				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GGCATCCATAAGTTTTGACAA	0.438													G	207527659	A	G	207527659	3	3	33	1	0	0	0	0	1	0	0	0	4861	72	3	3	143	3	DYTN	2	207527659	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	5038657	207527659	35671714	55	33479											
KIAA1486	57624	broad.mit.edu	37	chr2	226446694	226446694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccacagcgatgaatattcCaagaagattcctcctcccaa	5	15	0	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:226446694C>T	uc002voe.2	+	4	736	c.561C>T	c.(559-561)TCC>TCT	p.S187S	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_5'UTR	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	187										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		ATGAATATTCCAAGAAGATTC	0.423													T	226446694	C	T	226446694	2	4	33	1	0	0	0	0	0	0	0	1	8237	581	21	4		4	KIAA1486	2	226446694	Silent	SNP	C	TCGA-BR-6458-01A-11D-1800-08	18919035	226446694	16752679	56	33480											
COL6A3	1293	broad.mit.edu	37	chr2	238283329	238283329	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcggccgtgaggacgatcagCagctggggcacaccttctgt	14	12	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:238283329C>G	uc002vwl.2	-	8	3690	c.3405G>C	c.(3403-3405)CTG>CTC	p.L1135L	COL6A3_uc002vwo.2_Silent_p.L929L|COL6A3_uc010znj.1_Silent_p.L528L|COL6A3_uc002vwq.2_Silent_p.L929L|COL6A3_uc002vwr.2_Silent_p.L728L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1135	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGACGATCAGCAGCTGGGGCA	0.642													G	238283329	C	G	238283329	2	3	33	1	0	0	0	0	0	0	0	1	3701	697	25	5		5	COL6A3	2	238283329	Silent	SNP	C	TCGA-BR-6458-01A-11D-1800-08	11836635	238283329	4916044	57	33481											
SNED1	25992	broad.mit.edu	37	chr2	241969917	241969917	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acttccccgagctcctggacTtcaatgccacctgggttttt	8	14	1	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr2:241969917T>G	uc002wah.1	+	2	430	c.430T>G	c.(430-432)TTC>GTC	p.F144V		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	144	NIDO.				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GCTCCTGGACTTCAATGCCAC	0.632													G	241969917	T	G	241969917	3	3	33	1	0	0	0	0	1	0	0	0	14845	1609	56	5	436	5	SNED1	2	241969917	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	3686588	241969917	1229456	58	33482											
FBLN2	2199	broad.mit.edu	37	chr3	13655628	13655628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctcatagtacctgaggttCgccgacctccagagcccgca	9	16	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr3:13655628C>T	uc011avb.1	+	5	1818	c.1693C>T	c.(1693-1695)CGC>TGC	p.R565C	FBLN2_uc011auz.1_Missense_Mutation_p.R591C|FBLN2_uc011ava.1_Missense_Mutation_p.R565C|FBLN2_uc011avc.1_Missense_Mutation_p.R565C|uc003byc.1_5'Flank	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	565						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ACCTGAGGTTCGCCGACCTCC	0.597													T	13655628	C	T	13655628	3	4	33	1	0	0	0	0	1	0	0	0	5699	884	31	1	397	1	FBLN2	3	13655628	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08		13655628	184366802	59	33483											
TBC1D5	9779	broad.mit.edu	37	chr3	17279755	17279755	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgctgaggtcctggtAggaattacaacagaggagga	14	8	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr3:17279755A>G	uc003cbf.2	-	17	3153	c.1488T>C	c.(1486-1488)CCT>CCC	p.P496P	TBC1D5_uc010heu.2_Silent_p.P83P|TBC1D5_uc010hev.2_Silent_p.P496P|TBC1D5_uc003cbe.2_Silent_p.P496P|TBC1D5_uc010hew.1_Silent_p.P448P	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	496						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						AGGTCCTGGTAGGAATTACAA	0.517													G	17279755	A	G	17279755	2	3	33	1	0	0	0	0	0	0	0	1	15620	407	15	3		3	TBC1D5	3	17279755	Silent	SNP	A	TCGA-BR-6458-01A-11D-1800-08	3624127	17279755	180742675	60	33484											
CYP8B1	1582	broad.mit.edu	37	chr3	42916035	42916035	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatggtgtagtggtggatcTtcttgcctgtcttgaagaag	14	6	3	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr3:42916035T>G	uc003cmh.2	-	1	1599	c.1274A>C	c.(1273-1275)AAG>ACG	p.K425T	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.K425T	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B,	425					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GTGGTGGATCTTCTTGCCTGT	0.542													G	42916035	T	G	42916035	3	3	33	1	0	0	0	0	1	0	0	0	4198	1609	56	5	235	5	CYP8B1	3	42916035	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	25636280	42916035	155106395	61	33485											
RBM5	10181	broad.mit.edu	37	chr3	50153411	50153411	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccttggagctaagggagagaGaggtgaatgggaaactgtgc	17	5	0	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr3:50153411G>A	uc003cyg.2	+	22	2240	c.2092G>A	c.(2092-2094)GAG>AAG	p.E698K	RBM5_uc011bdj.1_Missense_Mutation_p.E642K|RBM5_uc011bdk.1_Missense_Mutation_p.E526K|RBM5_uc003cyh.2_Missense_Mutation_p.E155K	NM_005778	NP_005769	P52756	RBM5_HUMAN	RNA binding motif protein 5	698	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGGGAGAGAGAGGTGAATGG	0.468													A	50153411	G	A	50153411	3	1	33	1	0	0	0	0	1	0	0	0	13143	943	33	4	2174	4	RBM5	3	50153411	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	7237376	50153411	147869019	62	33486											
WNT5A	7474	broad.mit.edu	37	chr3	55504415	55504415	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgttgacctgtaccaacTtgccccggctgttgagccgc	12	14	0	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr3:55504415T>C	uc003dhn.2	-	5	1166	c.848A>G	c.(847-849)AAG>AGG	p.K283R	WNT5A_uc003dhm.2_Missense_Mutation_p.K268R|WNT5A_uc010hmw.2_Missense_Mutation_p.K268R|WNT5A_uc010hmx.2_Missense_Mutation_p.K194R	NM_003392	NP_003383	P41221	WNT5A_HUMAN	wingless-type MMTV integration site family,	283					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CTGTACCAACTTGCCCCGGCT	0.617													C	55504415	T	C	55504415	3	2	33	1	0	0	0	0	1	0	0	0	17388	1609	56	3	298	3	WNT5A	3	55504415	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	5351004	55504415	142518015	63	33487											
GABRR3	200959	broad.mit.edu	37	chr3	97705706	97705706	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggctgcatatcgattttcTtctcatgaagtcttctgagt	10	8	4	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr3:97705706T>C	uc011bgr.1	-	9	1225	c.1225A>G	c.(1225-1227)AGA>GGA	p.R409G		NM_001105580	NP_001099050	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 3	409	Cytoplasmic (Potential).|Interaction with SQSTM1 (By similarity).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0						ATCGATTTTCTTCTCATGAAG	0.438													C	97705706	T	C	97705706	3	2	33	1	0	0	0	0	1	0	0	0	6178	1617	56	3	181	3	GABRR3	3	97705706	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	42201291	97705706	100316724	64	33488											
OR5AC2	81050	broad.mit.edu	37	chr3	97806150	97806150	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcaccatggtgggcaaccTtggactgatagttctaattt	9	9	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr3:97806150T>G	uc011bgs.1	+	1	134	c.134T>G	c.(133-135)CTT>CGT	p.L45R		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GTGGGCAACCTTGGACTGATA	0.448													G	97806150	T	G	97806150	3	3	33	1	0	0	0	0	1	0	0	0	11141	1609	56	5	136	5	OR5AC2	3	97806150	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	100444	97806150	100216280	65	33489											
OR5K2	402135	broad.mit.edu	37	chr3	98216669	98216669	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atattagtttggtggcactgAtatttacacactgtcggctt	9	7	0	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr3:98216669A>C	uc011bgx.1	+	1	145	c.145A>C	c.(145-147)ATA>CTA	p.I49L		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K,	49	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						GGTGGCACTGATATTTACACA	0.453													C	98216669	A	C	98216669	3	2	33	1	0	0	0	0	1	0	0	0	11167	333	12	5	147	5	OR5K2	3	98216669	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	410519	98216669	99805761	66	33490											
ABI3BP	25890	broad.mit.edu	37	chr3	100523678	100523678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacttggtgacgtttttgGttttgcagtaacacgctggg	14	6	0	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr3:100523678G>A	uc003dun.2	-	20	1790	c.1705C>T	c.(1705-1707)CCA>TCA	p.P569S	ABI3BP_uc003duj.2_Missense_Mutation_p.P124S|ABI3BP_uc003duk.2_Missense_Mutation_p.P253S|ABI3BP_uc003dul.2_Missense_Mutation_p.P374S|ABI3BP_uc011bhd.1_Missense_Mutation_p.P523S|ABI3BP_uc003dum.2_5'UTR	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	569	Pro-rich.					extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						GACGTTTTTGGTTTTGCAGTA	0.413													A	100523678	G	A	100523678	3	1	33	1	0	0	0	0	1	0	0	0	91	1261	44	4	1586	4	ABI3BP	3	100523678	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	2307009	100523678	97498752	67	33491											
KTELC1	56983	broad.mit.edu	37	chr3	119205779	119205779	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcctggaaatctatgaaAgtaatcaccagtcatctgac	8	10	4	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr3:119205779A>C	uc003ecm.2	+	7	822	c.738A>C	c.(736-738)AAA>AAC	p.K246N	KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Missense_Mutation_p.K87N	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor	246						endoplasmic reticulum lumen	UDP-glucosyltransferase activity				0				GBM - Glioblastoma multiforme(114;0.233)		AATCTATGAAAGTAATCACCA	0.428													C	119205779	A	C	119205779	3	2	33	1	0	0	0	0	1	0	0	0	8583	86	3	5	764	5	KTELC1	3	119205779	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	18682101	119205779	78816651	68	33492											
HGD	3081	broad.mit.edu	37	chr3	120352085	120352085	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccatggggggtcattgtgCtgtgtagactccctccccct	12	13	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr3:120352085C>A	uc003edw.2	-	13	1467	c.1097G>T	c.(1096-1098)AGC>ATC	p.S366I	HGD_uc003edv.2_Missense_Mutation_p.S225I	NM_000187	NP_000178	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	366					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding				0				GBM - Glioblastoma multiforme(114;0.158)		GGTCATTGTGCTGTGTAGACT	0.557													A	120352085	C	A	120352085	3	1	33	1	0	0	0	0	1	0	0	0	7084	797	28	5	248	5	HGD	3	120352085	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	1146306	120352085	77670345	69	33493											
PLXNA1	5361	broad.mit.edu	37	chr3	126736735	126736735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgggcagcacaaggtcacGgtgcgtctgtccaccggggg	16	12	2	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr3:126736735G>A	uc003ejg.2	+	18	3595	c.3591G>A	c.(3589-3591)ACG>ACA	p.T1197T		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1220	Extracellular (Potential).|IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		ACAAGGTCACGGTGCGTCTGT	0.657													A	126736735	G	A	126736735	2	1	33	1	0	0	0	0	0	0	0	1	12119	1130	39	1		1	PLXNA1	3	126736735	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08	6384650	126736735	71285695	70	33494											
TOPBP1	11073	broad.mit.edu	37	chr3	133379947	133379947	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttaaaaacttcacaaaaaAcggttctttgtcatttctgg	5	8	4	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr3:133379947A>C	uc003eps.2	-	2	157	c.25T>G	c.(25-27)TTT>GTT	p.F9V		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	9					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						TTCACAAAAAACGGTTCTTTG	0.308								Other_conserved_DNA_damage_response_genes					C	133379947	A	C	133379947	3	2	33	1	0	0	0	0	1	0	0	0	16366	43	2	5	4651	5	TOPBP1	3	133379947	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	6643212	133379947	64642483	71	33495											
PCOLCE2	26577	broad.mit.edu	37	chr3	142567080	142567080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttcgtttggttcagcagCggagaacatggccatgaagc	12	9	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr3:142567080C>T	uc003evd.2	-	3	623	c.427G>A	c.(427-429)GCT>ACT	p.A143T		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	143	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			ovary(2)|skin(1)	3						GGTTCAGCAGCGGAGAACATG	0.458													T	142567080	C	T	142567080	3	4	33	1	0	0	0	0	1	0	0	0	11595	768	27	1	848	1	PCOLCE2	3	142567080	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	9187133	142567080	55455350	72	33496											
GNB4	59345	broad.mit.edu	37	chr3	179132727	179132727	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atttccctctctggtctttaAgttatatatagagcagatgt	7	7	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr3:179132727A>T	uc003fjv.3	-	6	656	c.376T>A	c.(376-378)TTA>ATA	p.L126I	GNB4_uc003fju.3_Missense_Mutation_p.L37I	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	guanine nucleotide-binding protein, beta-4	126	WD 2.				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			skin(2)	2	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			CTGGTCTTTAAGTTATATATA	0.468													T	179132727	A	T	179132727	3	4	33	1	0	0	0	0	1	0	0	0	6520	69	3	5	666	5	GNB4	3	179132727	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	36565647	179132727	18889703	73	33497											
IL1RAP	3556	broad.mit.edu	37	chr3	190366162	190366162	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgagcttcattcagaaaAgcagacgcctcctggttgtt	9	10	2	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr3:190366162A>C	uc003fsm.1	+	12	1587	c.1381A>C	c.(1381-1383)AGC>CGC	p.S461R	IL1RAP_uc010hzg.1_Missense_Mutation_p.S461R|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.S461R|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	461	Cytoplasmic (Potential).|TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		CATTCAGAAAAGCAGACGCCT	0.512													C	190366162	A	C	190366162	3	2	33	1	0	0	0	0	1	0	0	0	7660	72	3	5	1439	5	IL1RAP	3	190366162	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	11233435	190366162	7656268	74	33498											
APOD	347	broad.mit.edu	37	chr3	195300808	195300808	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccattctcaaaggttgttGggatcttctcaatttcgtac	8	9	3	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr3:195300808G>T	uc003fur.2	-	3	520	c.158C>A	c.(157-159)CCA>CAA	p.P53Q	APOD_uc011bsx.1_Missense_Mutation_p.P53Q	NM_001647	NP_001638	P05090	APOD_HUMAN	apolipoprotein D precursor	53					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			ovary(2)	2	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		AAAGGTTGTTGGGATCTTCTC	0.478													T	195300808	G	T	195300808	3	4	33	1	0	0	0	0	1	0	0	0	801	1348	47	5	423	5	APOD	3	195300808	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	4934646	195300808	2721622	75	33499											
MUC4	4585	broad.mit.edu	37	chr3	195495955	195495955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtcccactgcatcccaccGctctggtagagaaacagggc	10	15	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr3:195495955G>A	uc011bto.1	-	8	13543	c.13083C>T	c.(13081-13083)AGC>AGT	p.S4361S	MUC4_uc003fuz.2_Missense_Mutation_p.A117V|MUC4_uc003fva.2_5'UTR|MUC4_uc003fvb.2_Missense_Mutation_p.A35V|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.A35V|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.S53S|MUC4_uc011bti.1_Silent_p.S53S|MUC4_uc011btj.1_Silent_p.S230S|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_5'UTR|MUC4_uc011btm.1_Silent_p.S178S|MUC4_uc011btn.1_5'UTR|MUC4_uc003fvo.2_Silent_p.S253S|MUC4_uc003fvp.2_Silent_p.S202S|MUC4_uc010hzu.1_Silent_p.S1101S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1246	NIDO.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCATCCCACCGCTCTGGTAGA	0.612													A	195495955	G	A	195495955	2	1	33	1	0	0	0	0	0	0	0	1	9978	1078	38	1		1	MUC4	3	195495955	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08	195147	195495955	2526475	76	33500											
CYTL1	54360	broad.mit.edu	37	chr4	5018891	5018891	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggtacagcctgggcaggtAtctcacacatggctcctgtg	12	12	1	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr4:5018891A>T	uc003gig.2	-	2	194	c.169T>A	c.(169-171)TAC>AAC	p.Y57N		NM_018659	NP_061129	Q9NRR1	CYTL1_HUMAN	cytokine-like 1 precursor	57					signal transduction	extracellular space|soluble fraction	receptor binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CTGGGCAGGTATCTCACACAT	0.582													T	5018891	A	T	5018891	3	4	33	1	0	0	0	0	1	0	0	0	4208	449	16	5	253	5	CYTL1	4	5018891	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08		5018891	186135385	77	33501											
LGI2	55203	broad.mit.edu	37	chr4	25030161	25030161	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcagatgggaaaacatTcggtccttgatttctgaaaa	11	6	1	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr4:25030161T>G	uc003grf.2	-	2	336	c.237A>C	c.(235-237)CGA>CGC	p.R79R		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	79						extracellular region					0		Breast(46;0.173)				GGGAAAACATTCGGTCCTTGA	0.522													G	25030161	T	G	25030161	2	3	33	1	0	0	0	0	0	0	0	1	8752	1770	62	5		5	LGI2	4	25030161	Silent	SNP	T	TCGA-BR-6458-01A-11D-1800-08	20011270	25030161	166124115	78	33502											
TLR6	10333	broad.mit.edu	37	chr4	38830380	38830380	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagttctgataaaaatttaaTgaaaacttgacagttgtcat	7	4	2	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr4:38830380T>C	uc003gtm.2	-	1	781	c.715A>G	c.(715-717)ATT>GTT	p.I239V	TLR6_uc010ifg.1_Missense_Mutation_p.I239V	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6 precursor	239	Extracellular (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			ovary(2)	2						AAAAATTTAATGAAAACTTGA	0.338													C	38830380	T	C	38830380	3	2	33	1	0	0	0	0	1	0	0	0	15952	1464	51	3	1679	3	TLR6	4	38830380	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	13800219	38830380	152323896	79	33503											
N4BP2	55728	broad.mit.edu	37	chr4	40115104	40115104	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccagacacatggtggaAgtttaaaccaaaggaacttg	11	7	0	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr4:40115104A>C	uc003guy.3	+	7	1978	c.1640A>C	c.(1639-1641)AAG>ACG	p.K547T	N4BP2_uc010ifq.2_Missense_Mutation_p.K467T|N4BP2_uc010ifr.2_Missense_Mutation_p.K467T	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	547						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						ACATGGTGGAAGTTTAAACCA	0.363													C	40115104	A	C	40115104	3	2	33	1	0	0	0	0	1	0	0	0	10110	72	3	5	1658	5	N4BP2	4	40115104	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	1284724	40115104	151039172	80	33504											
ATP8A1	10396	broad.mit.edu	37	chr4	42583692	42583692	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actattccatgaacccactgTgtatttctcaactgagctcc	5	13	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr4:42583692T>A	uc003gwr.2	-	10	1012	c.780A>T	c.(778-780)ACA>ACT	p.T260T	ATP8A1_uc003gws.2_Silent_p.T260T|ATP8A1_uc011byz.1_Silent_p.T260T	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	260	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)	GAACCCACTGTGTATTTCTCA	0.413													A	42583692	T	A	42583692	2	1	33	1	0	0	0	0	0	0	0	1	1192	1683	59	5		5	ATP8A1	4	42583692	Silent	SNP	T	TCGA-BR-6458-01A-11D-1800-08	2468588	42583692	148570584	81	33505											
UGT2A1	10941	broad.mit.edu	37	chr4	70513235	70513235	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattatgctcctttttaatgAgctcatctataattatctta	3	8	3	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr4:70513235A>C	uc003hem.3	-	1	191	c.128T>G	c.(127-129)CTC>CGC	p.L43R	UGT2A1_uc011caq.1_Missense_Mutation_p.L43R|UGT2A1_uc010ihu.2_Missense_Mutation_p.L43R|UGT2A1_uc010iht.2_Missense_Mutation_p.L43R	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family,	43	Extracellular (Potential).				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity			ovary(1)	1						CTTTTTAATGAGCTCATCTAT	0.393													C	70513235	A	C	70513235	3	2	33	1	0	0	0	0	1	0	0	0	16950	304	11	5	1479	5	UGT2A1	4	70513235	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	27929543	70513235	120641041	82	33506											
MEPE	56955	broad.mit.edu	37	chr4	88766376	88766376	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgtcaatttatcctaAgtcaactgggaataaagggt	11	5	2	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr4:88766376A>C	uc003hqy.2	+	4	395	c.356A>C	c.(355-357)AAG>ACG	p.K119T	MEPE_uc010ikn.2_Missense_Mutation_p.K6T	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN	matrix, extracellular phosphoglycoprotein with	119					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			ovary(1)|lung(1)|skin(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ATTTATCCTAAGTCAACTGGG	0.363													C	88766376	A	C	88766376	3	2	33	1	0	0	0	0	1	0	0	0	9478	72	3	5	366	5	MEPE	4	88766376	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	18253141	88766376	102387900	83	33507											
FAM13A	10144	broad.mit.edu	37	chr4	89950685	89950685	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtgagcccctgccgttcaAgttcttggagactgactcca	11	13	2	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr4:89950685A>C	uc003hse.1	-	2	351	c.143T>G	c.(142-144)CTT>CGT	p.L48R	FAM13A_uc003hsf.1_5'UTR|FAM13A_uc003hsh.1_5'UTR|FAM13A_uc003hsi.2_Missense_Mutation_p.L48R|FAM13A_uc003hsj.2_Missense_Mutation_p.L48R	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	48	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						CTGCCGTTCAAGTTCTTGGAG	0.428													C	89950685	A	C	89950685	3	2	33	1	0	0	0	0	1	0	0	0	5452	72	3	5	3053	5	FAM13A	4	89950685	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	1184309	89950685	101203591	84	33508											
C4orf37	285555	broad.mit.edu	37	chr4	98902359	98902359	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatcgaacagcactttgAccaaatggaatatttttcag	8	7	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr4:98902359A>T	uc003htt.1	-	6	813	c.723T>A	c.(721-723)GGT>GGA	p.G241G		NM_174952	NP_777612	Q8N412	CD037_HUMAN	hypothetical protein LOC285555	241											0				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		CAGCACTTTGACCAAATGGAA	0.388													T	98902359	A	T	98902359	2	4	33	1	0	0	0	0	0	0	0	1	2267	262	10	5		5	C4orf37	4	98902359	Silent	SNP	A	TCGA-BR-6458-01A-11D-1800-08	8951674	98902359	92251917	85	33509											
EIF4E	1977	broad.mit.edu	37	chr4	99823081	99823081	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggttagcaacctcctgattaGattccgttttctcctcttct	6	12	3	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr4:99823081G>C	uc003hue.2	-	2	1594	c.71C>G	c.(70-72)TCT>TGT	p.S24C	EIF4E_uc011cea.1_Missense_Mutation_p.S44C|EIF4E_uc011ceb.1_Missense_Mutation_p.S24C|EIF4E_uc011cec.1_Missense_Mutation_p.S24C	NM_001968	NP_001959	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	24					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			lung(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		CTCCTGATTAGATTCCGTTTT	0.378													C	99823081	G	C	99823081	3	2	33	1	0	0	0	0	1	0	0	0	5028	942	33	5	703	5	EIF4E	4	99823081	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	920722	99823081	91331195	86	33510											
NDST3	9348	broad.mit.edu	37	chr4	119163259	119163259	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgatggatgaagtacagaAgtttctaggagtcttgcctc	12	6	2	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr4:119163259A>C	uc003ibx.2	+	12	2757	c.2354A>C	c.(2353-2355)AAG>ACG	p.K785T		NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	785	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						GAAGTACAGAAGTTTCTAGGA	0.299													C	119163259	A	C	119163259	3	2	33	1	0	0	0	0	1	0	0	0	10257	72	3	5	2396	5	NDST3	4	119163259	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	19340178	119163259	71991017	87	33511											
ADAD1	132612	broad.mit.edu	37	chr4	123332388	123332388	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttattttaggtacttttataGacaacttctgctcttctaca	4	8	3	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr4:123332388G>A	uc003ieo.2	+	9	1092	c.860G>A	c.(859-861)AGA>AAA	p.R287K	ADAD1_uc003iep.2_Intron|ADAD1_uc003ieq.2_Missense_Mutation_p.R269K	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	287	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						TACTTTTATAGACAACTTCTG	0.289													A	123332388	G	A	123332388	3	1	33	1	0	0	0	0	1	0	0	0	231	942	33	4	886	4	ADAD1	4	123332388	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	4169129	123332388	67821888	88	33512											
FAT4	79633	broad.mit.edu	37	chr4	126389829	126389829	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctatgacaaccagacaggcgAccgggctgagtttttggccc	12	12	0	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr4:126389829A>T	uc003ifj.3	+	11	12062	c.12062A>T	c.(12061-12063)GAC>GTC	p.D4021V	FAT4_uc011cgp.1_Missense_Mutation_p.D2284V|FAT4_uc003ifi.1_Missense_Mutation_p.D1499V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4021	Laminin G-like 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CAGACAGGCGACCGGGCTGAG	0.403													T	126389829	A	T	126389829	3	4	33	1	0	0	0	0	1	0	0	0	5692	275	10	5	12104	5	FAT4	4	126389829	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	3057441	126389829	64764447	89	33513											
FAT4	79633	broad.mit.edu	37	chr4	126411383	126411383	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgagatggtggtggcctgtcTtggcgtcctctgtcctcagg	15	10	3	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr4:126411383T>A	uc003ifj.3	+	17	13406	c.13406T>A	c.(13405-13407)CTT>CAT	p.L4469H	FAT4_uc011cgp.1_Missense_Mutation_p.L2710H|FAT4_uc003ifi.1_Missense_Mutation_p.L1946H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4469	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GTGGCCTGTCTTGGCGTCCTC	0.602													A	126411383	T	A	126411383	3	1	33	1	0	0	0	0	1	0	0	0	5692	1609	56	5	13472	5	FAT4	4	126411383	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	21554	126411383	64742893	90	33514											
DCHS2	54798	broad.mit.edu	37	chr4	155287504	155287504	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggtctcatcactgatgctCgtcacataggttgatgggtt	12	8	3	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr4:155287504C>T	uc003inw.2	-	5	552	c.552G>A	c.(550-552)ACG>ACA	p.T184T	DCHS2_uc003inx.2_Silent_p.T778T	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	184	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CACTGATGCTCGTCACATAGG	0.502													T	155287504	C	T	155287504	2	4	33	1	0	0	0	0	0	0	0	1	4288	871	31	1		1	DCHS2	4	155287504	Silent	SNP	C	TCGA-BR-6458-01A-11D-1800-08	28876121	155287504	35866772	91	33515											
GRIA2	2891	broad.mit.edu	37	chr4	158254090	158254090	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagactgtctggcaaacccAgcagtgccctggggacaagg	15	11	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr4:158254090A>G	uc003ipm.3	+	7	1461	c.1002A>G	c.(1000-1002)CCA>CCG	p.P334P	GRIA2_uc011cit.1_Silent_p.P287P|GRIA2_uc003ipl.3_Silent_p.P334P|GRIA2_uc003ipk.3_Silent_p.P287P|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	334	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGGCAAACCCAGCAGTGCCCT	0.458													G	158254090	A	G	158254090	2	3	33	1	0	0	0	0	0	0	0	1	6768	175	7	3		3	GRIA2	4	158254090	Silent	SNP	A	TCGA-BR-6458-01A-11D-1800-08	2966586	158254090	32900186	92	33516											
CTNND2	1501	broad.mit.edu	37	chr5	11364952	11364952	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggactgcagggcccgcaActctgggcccaggtgcccat	15	14	1	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr5:11364952A>C	uc003jfa.1	-	8	1373	c.1228T>G	c.(1228-1230)TTG>GTG	p.L410V	CTNND2_uc010itt.2_Missense_Mutation_p.L319V|CTNND2_uc011cmy.1_Missense_Mutation_p.L73V|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	410	ARM 1.				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						AGGGCCCGCAACTCTGGGCCC	0.572													C	11364952	A	C	11364952	3	2	33	1	0	0	0	0	1	0	0	0	4020	40	2	5	2509	5	CTNND2	5	11364952	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08		11364952	169550308	93	33517											
DNAH5	1767	broad.mit.edu	37	chr5	13729648	13729648	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atggttttggaggacaagctTtaaggtctaatgaggcacct	12	6	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr5:13729648T>G	uc003jfd.2	-	69	11825	c.11783A>C	c.(11782-11784)AAA>ACA	p.K3928T	DNAH5_uc003jfc.2_Missense_Mutation_p.K96T	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3928					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)					AGGACAAGCTTTAAGGTCTAA	0.333									Kartagener_syndrome				G	13729648	T	G	13729648	3	3	33	1	0	0	0	0	1	0	0	0	4604	1841	64	5	2135	5	DNAH5	5	13729648	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	2364696	13729648	167185612	94	33518											
DNAH5	1767	broad.mit.edu	37	chr5	13751364	13751364	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctacttccttgtcaccaacTttcaccttttttataaaaag	2	11	3	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr5:13751364T>G	uc003jfd.2	-	65	11076	c.11034A>C	c.(11032-11034)AAA>AAC	p.K3678N	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3678	AAA 5 (By similarity).				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)					TGTCACCAACTTTCACCtttt	0.328									Kartagener_syndrome				G	13751364	T	G	13751364	3	3	33	1	0	0	0	0	1	0	0	0	4604	1606	56	5	2900	5	DNAH5	5	13751364	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	21716	13751364	167163896	95	33519											
BRIX1	55299	broad.mit.edu	37	chr5	34915867	34915867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcaaccaagaggaaacgGcgtggaggctttgcagttca	15	9	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr5:34915867G>A	uc003jja.2	+	1	48	c.24G>A	c.(22-24)CGG>CGA	p.R8R	RAD1_uc003jiw.2_5'Flank|RAD1_uc003jix.2_5'Flank|RAD1_uc003jiy.2_Intron|BRIX1_uc003jiz.2_Silent_p.R8R|BRIX1_uc011col.1_Silent_p.R8R	NM_018321	NP_060791	Q8TDN6	BRX1_HUMAN	BRIX	8					ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding				0						AGAGGAAACGGCGTGGAGGCT	0.607													A	34915867	G	A	34915867	2	1	33	1	0	0	0	0	0	0	0	1	1515	1190	42	2		2	BRIX1	5	34915867	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08	21164503	34915867	145999393	96	33520											
SPEF2	79925	broad.mit.edu	37	chr5	35727819	35727819	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaggaaaagtaccagtaaAgaaatcacctgctgactcta	9	8	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr5:35727819A>G	uc003jjo.2	+	21	3068	c.2957A>G	c.(2956-2958)AAG>AGG	p.K986R	SPEF2_uc003jjp.1_Missense_Mutation_p.K472R	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	986					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTACCAGTAAAGAAATCACCT	0.398													G	35727819	A	G	35727819	3	3	33	1	0	0	0	0	1	0	0	0	15034	72	3	3	3060	3	SPEF2	5	35727819	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	811952	35727819	145187441	97	33521											
SPEF2	79925	broad.mit.edu	37	chr5	35814620	35814620	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaaggaagtgatggagagAgatcaccttcaagacataca	10	7	2	4			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr5:35814620A>C	uc003jjo.2	+	37	5545	c.5434A>C	c.(5434-5436)AGA>CGA	p.R1812R	SPEF2_uc003jjr.2_Silent_p.R867R	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1812					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGATGGAGAGAGATCACCTTC	0.308													C	35814620	A	C	35814620	2	2	33	1	0	0	0	0	0	0	0	1	15034	296	11	5		5	SPEF2	5	35814620	Silent	SNP	A	TCGA-BR-6458-01A-11D-1800-08	86801	35814620	145100640	98	33522											
HSPB3	8988	broad.mit.edu	37	chr5	53752045	53752045	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatggaattttggtggtggaAgtaaaggatccagttgggac	16	3	0	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr5:53752045A>C	uc003jph.1	+	1	601	c.426A>C	c.(424-426)GAA>GAC	p.E142D		NM_006308	NP_006299	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	142					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus					0		Lung NSC(810;0.00104)				TGGTGGTGGAAGTAAAGGATC	0.443													C	53752045	A	C	53752045	3	2	33	1	0	0	0	0	1	0	0	0	7421	69	3	5	428	5	HSPB3	5	53752045	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	17937425	53752045	127163215	99	33523											
NAIP	4671	broad.mit.edu	37	chr5	70405051	70405051	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagctttctgggtggtcgAaaaagtactgtaagttaagc	11	6	1	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr5:70405051A>G	uc003kat.1	-	1	2813	c.1547T>C	c.(1546-1548)TTC>TCC	p.F516S		NM_022892	NP_075043	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein isoform	904					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TGGGTGGTCGAAAAAGTACTG	0.428													G	70405051	A	G	70405051	3	3	33	1	0	0	0	0	1	0	0	0	10147	261	9	3		3	NAIP	5	70405051	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	16653006	70405051	110510209	100	33524											
RASGRF2	5924	broad.mit.edu	37	chr5	80390141	80390141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggttctgtctctaatagaCtgcacattgattgaggagcc	12	8	2	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr5:80390141C>A	uc003kha.1	+	11	1578	c.1578C>A	c.(1576-1578)GAC>GAA	p.D526E	RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	526	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CTCTAATAGACTGCACATTGA	0.438													A	80390141	C	A	80390141	3	1	33	1	0	0	0	0	1	0	0	0	13073	564	20	5	1620	5	RASGRF2	5	80390141	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	9985090	80390141	100525119	101	33525											
SLCO4C1	353189	broad.mit.edu	37	chr5	101631706	101631706	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaagttcctccagccgtaAgacccctcctcaaactcgga	8	15	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr5:101631706A>C	uc003knm.2	-	1	548	c.261T>G	c.(259-261)TCT>TCG	p.S87S		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	87	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TCCAGCCGTAAGACCCCTCCT	0.572													C	101631706	A	C	101631706	2	2	33	1	0	0	0	0	0	0	0	1	14730	59	3	5		5	SLCO4C1	5	101631706	Silent	SNP	A	TCGA-BR-6458-01A-11D-1800-08	21241565	101631706	79283554	102	33526											
KCNN2	3781	broad.mit.edu	37	chr5	113822854	113822854	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaagaaaacatcaacgaaaAttcctgcaagctattcatca	5	9	3	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr5:113822854A>C	uc003kqo.2	+	6	1819	c.1362A>C	c.(1360-1362)AAA>AAC	p.K454N	KCNN2_uc003kqp.2_Missense_Mutation_p.K106N|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	454	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		ATCAACGAAAATTCCTGCAAG	0.323													C	113822854	A	C	113822854	3	2	33	1	0	0	0	0	1	0	0	0	8079	98	4	5	1384	5	KCNN2	5	113822854	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	12191148	113822854	67092406	103	33527											
ACSL6	23305	broad.mit.edu	37	chr5	131307262	131307262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggcaccctagagctgccCggagaaatcccagaactgtt	10	14	0	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr5:131307262C>T	uc010jdo.1	-	14	1423	c.1340G>A	c.(1339-1341)CGG>CAG	p.R447Q	ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.R472Q|ACSL6_uc003kvy.1_Missense_Mutation_p.R472Q|ACSL6_uc003kwb.2_Missense_Mutation_p.R437Q|ACSL6_uc003kvz.1_Missense_Mutation_p.R372Q|ACSL6_uc003kwa.1_Missense_Mutation_p.R458Q|ACSL6_uc003kvw.1_Missense_Mutation_p.R93Q|ACSL6_uc010jdn.1_Missense_Mutation_p.R462Q	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	447	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAGAGCTGCCCGGAGAAATCC	0.532													T	131307262	C	T	131307262	3	4	33	1	0	0	0	0	1	0	0	0	181	652	23	1	785	1	ACSL6	5	131307262	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	17484408	131307262	49607998	104	33528											
PCDHA6	56142	broad.mit.edu	37	chr5	140209285	140209285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcagtttcaggtgagcGcgcgcgacgcgggcgtgccg	18	12	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr5:140209285G>A	uc003lho.2	+	1	1636	c.1609G>A	c.(1609-1611)GCG>ACG	p.A537T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.A537T	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	537	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGGTGAGCGCGCGCGACGC	0.677													A	140209285	G	A	140209285	3	1	33	1	0	0	0	0	1	0	0	0	11528	1087	38	1	1611	1	PCDHA6	5	140209285	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	8902023	140209285	40705975	105	33529											
PCDHA8	56140	broad.mit.edu	37	chr5	140222313	140222313	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtgaaggagaacaacccGccgggctgccacatcttcac	10	14	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr5:140222313G>A	uc003lhs.2	+	1	1407	c.1407G>A	c.(1405-1407)CCG>CCA	p.P469P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.P469P	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	469	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAACCCGCCGGGCTGCC	0.672													A	140222313	G	A	140222313	2	1	33	1	0	0	0	0	0	0	0	1	11530	1074	38	1		1	PCDHA8	5	140222313	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08	13028	140222313	40692947	106	33530											
PCDHB12	56124	broad.mit.edu	37	chr5	140589755	140589755	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatcaccgtcaccgacTtggggacccccaggctaaaa	8	16	3	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr5:140589755T>A	uc003liz.2	+	1	1465	c.1276T>A	c.(1276-1278)TTG>ATG	p.L426M	PCDHB12_uc011dak.1_Missense_Mutation_p.L89M	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	426	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTCACCGACTTGGGGACCCC	0.522													A	140589755	T	A	140589755	3	1	33	1	0	0	0	0	1	0	0	0	11537	1606	56	5	1278	5	PCDHB12	5	140589755	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	367442	140589755	40325505	107	33531											
PCDHGB2	56103	broad.mit.edu	37	chr5	140741903	140741903	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagcctggtctcagctccaAgcctggacctggggttctcc	11	15	3	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr5:140741903A>C	uc003ljs.1	+	1	2201	c.2201A>C	c.(2200-2202)AAG>ACG	p.K734T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.K734T|PCDHGA5_uc011das.1_5'Flank	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	734	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGCTCCAAGCCTGGACCT	0.527													C	140741903	A	C	140741903	3	2	33	1	0	0	0	0	1	0	0	0	11563	72	3	5	2203	5	PCDHGB2	5	140741903	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	152148	140741903	40173357	108	33532											
KCTD16	57528	broad.mit.edu	37	chr5	143853664	143853664	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaatctgaacttttaaggaAgtatcatctataagggaggg	11	5	3	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr5:143853664A>C	uc003lnm.1	+	4	1903	c.1274A>C	c.(1273-1275)AAG>ACG	p.K425T	KCTD16_uc003lnn.1_Missense_Mutation_p.K425T	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	potassium channel tetramerisation domain	425						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(2)|ovary(1)|skin(1)	4		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CTTTTAAGGAAGTATCATCTA	0.358													C	143853664	A	C	143853664	3	2	33	1	0	0	0	0	1	0	0	0	8103	72	3	5	1280	5	KCTD16	5	143853664	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	3111761	143853664	37061596	109	33533											
SH3TC2	79628	broad.mit.edu	37	chr5	148424152	148424152	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatggtcttgaaggtgatgAgaaactgggccctctgagac	13	9	2	4			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr5:148424152A>G	uc003lpu.2	-	4	481	c.329T>C	c.(328-330)CTC>CCC	p.L110P	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc003lps.2_5'Flank|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.L110P|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_5'UTR|SH3TC2_uc003lpw.1_3'UTR	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	110							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGGTGATGAGAAACTGGGC	0.483													G	148424152	A	G	148424152	3	3	33	1	0	0	0	0	1	0	0	0	14262	304	11	3	3593	3	SH3TC2	5	148424152	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	4570488	148424152	32491108	110	33534											
GRIA1	2890	broad.mit.edu	37	chr5	153149735	153149735	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccctaccagaggtctaAaattgctgtgtttgagaaga	10	8	1	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr5:153149735A>C	uc003lva.3	+	13	2395	c.2030A>C	c.(2029-2031)AAA>ACA	p.K677T	GRIA1_uc003luy.3_Missense_Mutation_p.K677T|GRIA1_uc003luz.3_Missense_Mutation_p.K582T|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.K597T|GRIA1_uc011dcx.1_Missense_Mutation_p.K608T|GRIA1_uc011dcy.1_Missense_Mutation_p.K687T|GRIA1_uc011dcz.1_Missense_Mutation_p.K687T	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	677	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAGAGGTCTAAAATTGCTGTG	0.468													C	153149735	A	C	153149735	3	2	33	1	0	0	0	0	1	0	0	0	6767	14	1	5	2080	5	GRIA1	5	153149735	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	4725583	153149735	27765525	111	33535											
ITK	3702	broad.mit.edu	37	chr5	156649893	156649893	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaccactttgggaacctgaAgaaactgtggtcattgcctt	10	10	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr5:156649893A>C	uc003lwo.1	+	6	598	c.516A>C	c.(514-516)GAA>GAC	p.E172D		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	172	SH3.			PE -> GS (in Ref. 6; AA sequence).	cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGAACCTGAAGAAACTGTGG	0.488			T	SYK	peripheral T-cell lymphoma								C	156649893	A	C	156649893	3	2	33	1	0	0	0	0	1	0	0	0	7909	69	3	5	538	5	ITK	5	156649893	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	3500158	156649893	24265367	112	33536											
SLIT3	6586	broad.mit.edu	37	chr5	168671766	168671766	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcgatgacgctgacctggTtgtcttccagatgcctacaa	9	12	2	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr5:168671766T>C	uc003mab.2	-	3	704	c.284A>G	c.(283-285)AAC>AGC	p.N95S	SLIT3_uc010jjg.2_Missense_Mutation_p.N95S|SLIT3_uc010jji.2_Missense_Mutation_p.N95S	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	95	LRR 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTGACCTGGTTGTCTTCCAG	0.498													C	168671766	T	C	168671766	3	2	33	1	0	0	0	0	1	0	0	0	14741	1725	60	3	4423	3	SLIT3	5	168671766	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	12021873	168671766	12243494	113	33537											
CCHCR1	54535	broad.mit.edu	37	chr6	31116191	31116191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccctgatacctgctgacaGcattgaccacaagcctcagc	7	15	1	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr6:31116191G>A	uc003nsr.3	-	10	1427	c.1304C>T	c.(1303-1305)GCT>GTT	p.A435V	CCHCR1_uc011dne.1_Missense_Mutation_p.A435V|CCHCR1_uc003nsq.3_Missense_Mutation_p.A488V|CCHCR1_uc003nsp.3_Missense_Mutation_p.A524V|CCHCR1_uc010jsk.1_Missense_Mutation_p.A435V	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1 isoform	435	Potential.				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			skin(1)	1						CCTGCTGACAGCATTGACCAC	0.627													A	31116191	G	A	31116191	3	1	33	1	0	0	0	0	1	0	0	0	2877	971	34	2	1080	2	CCHCR1	6	31116191	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08		31116191	139998876	114	33538											
PBX2	5089	broad.mit.edu	37	chr6	32156083	32156083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatgtgacggatctgggcaAgtttgctgcgatagtccgag	14	7	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr6:32156083A>C	uc003oav.1	-	3	765	c.494T>G	c.(493-495)CTT>CGT	p.L165R	PBX2_uc003oaw.2_Missense_Mutation_p.L165R	NM_002586	NP_002577	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	165							transcription factor binding			ovary(1)	1						GATCTGGGCAAGTTTGCTGCG	0.592													C	32156083	A	C	32156083	3	2	33	1	0	0	0	0	1	0	0	0	11493	72	3	5	826	5	PBX2	6	32156083	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	1039892	32156083	138958984	115	33539											
USP49	25862	broad.mit.edu	37	chr6	41766457	41766457	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccacagagtaaagcgcaCgcacctccctctgtgttgta	8	15	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr6:41766457C>T	uc003ori.2	-	7	2103	c.1881G>A	c.(1879-1881)GCG>GCA	p.A627A		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	Error:Variant_position_missing_in_Q70CQ1_after_alignment					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTAAAGCGCACGCACCTCCCT	0.493													T	41766457	C	T	41766457	2	4	33	1	0	0	0	0	0	0	0	1	17077	523	19	1		1	USP49	6	41766457	Silent	SNP	C	TCGA-BR-6458-01A-11D-1800-08	9610374	41766457	129348610	116	33540											
PRPH2	5961	broad.mit.edu	37	chr6	42690053	42690053	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgcttcttctggtcaaacTtgactttcagtagcgccatg	8	13	4	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr6:42690053T>G	uc003osk.2	-	1	306	c.20A>C	c.(19-21)AAG>ACG	p.K7T		NM_000322	NP_000313	P23942	PRPH2_HUMAN	peripherin 2	7	Cytoplasmic (Potential).				cell adhesion|visual perception	integral to membrane				ovary(4)|central_nervous_system(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CTGGTCAAACTTGACTTTCAG	0.552													G	42690053	T	G	42690053	3	3	33	1	0	0	0	0	1	0	0	0	12577	1609	56	5	1032	5	PRPH2	6	42690053	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	923596	42690053	128425014	117	33541											
RUNX2	860	broad.mit.edu	37	chr6	45514961	45514961	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccagaatgatggtgttgaCgctgatggaagccacagcag	13	8	0	4			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr6:45514961C>T	uc011dvx.1	+	9	1695	c.1485C>T	c.(1483-1485)GAC>GAT	p.D495D	RUNX2_uc011dvy.1_Silent_p.D473D|RUNX2_uc003oxt.2_Silent_p.D481D	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	runt-related transcription factor 2 isoform a	495	Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3						ATGGTGTTGACGCTGATGGAA	0.493													T	45514961	C	T	45514961	2	4	33	1	0	0	0	0	0	0	0	1	13748	535	19	1		1	RUNX2	6	45514961	Silent	SNP	C	TCGA-BR-6458-01A-11D-1800-08	2824908	45514961	125600106	118	33542											
PKHD1	5314	broad.mit.edu	37	chr6	51612651	51612651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgccatggctcctgaggccActgatttggttctgaggtga	14	9	1	4			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr6:51612651A>G	uc003pah.1	-	58	10039	c.9763T>C	c.(9763-9765)TGG>CGG	p.W3255R	PKHD1_uc010jzn.1_Missense_Mutation_p.W1238R|PKHD1_uc003pai.2_Missense_Mutation_p.W3255R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3255	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TCCTGAGGCCACTGATTTGGT	0.443													G	51612651	A	G	51612651	3	3	33	1	0	0	0	0	1	0	0	0	11971	159	6	3	2540	3	PKHD1	6	51612651	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	6097690	51612651	119502416	119	33543											
BMP5	653	broad.mit.edu	37	chr6	55659183	55659183	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaagccaacccacatctaaAgcttgggcctttcttgtgtc	7	13	2	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr6:55659183A>C	uc003pcq.2	-	3	1438	c.726T>G	c.(724-726)GCT>GCG	p.A242A	BMP5_uc011dxf.1_Silent_p.A242A	NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	242					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCACATCTAAAGCTTGGGCCT	0.383													C	55659183	A	C	55659183	2	2	33	1	0	0	0	0	0	0	0	1	1463	59	3	5		5	BMP5	6	55659183	Silent	SNP	A	TCGA-BR-6458-01A-11D-1800-08	4046532	55659183	115455884	120	33544											
ZNF451	26036	broad.mit.edu	37	chr6	57013172	57013172	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttatgttcggcaacagcacaGaatttaaccgacatgaacac	7	10	0	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr6:57013172G>A	uc003pdm.1	+	10	2513	c.2289G>A	c.(2287-2289)CAG>CAA	p.Q763Q	ZNF451_uc003pdl.2_Silent_p.Q763Q|ZNF451_uc003pdn.1_Silent_p.Q763Q|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Silent_p.Q763Q	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	763	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CAACAGCACAGAATTTAACCG	0.418													A	57013172	G	A	57013172	2	1	33	1	0	0	0	0	0	0	0	1	17919	933	33	4		4	ZNF451	6	57013172	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08	1353989	57013172	114101895	121	33545											
COL12A1	1303	broad.mit.edu	37	chr6	75844528	75844528	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaggagtgtctggcttcAgtttctgcaggaccacactg	12	9	3	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr6:75844528A>C	uc003phs.2	-	32	5604	c.5438T>G	c.(5437-5439)CTG>CGG	p.L1813R	COL12A1_uc003pht.2_Missense_Mutation_p.L649R	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1813	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GTCTGGCTTCAGTTTCTGCAG	0.493													C	75844528	A	C	75844528	3	2	33	1	0	0	0	0	1	0	0	0	3669	188	7	5	3893	5	COL12A1	6	75844528	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	18831356	75844528	95270539	122	33546											
GPRC6A	222545	broad.mit.edu	37	chr6	117130660	117130660	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgccattgccactgtgacTtctgtacaagtgtcatagat	9	10	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr6:117130660T>G	uc003pxj.1	-	2	337	c.315A>C	c.(313-315)GAA>GAC	p.E105D	GPRC6A_uc003pxk.1_Missense_Mutation_p.E105D|GPRC6A_uc003pxl.1_Missense_Mutation_p.E105D	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	105	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CCACTGTGACTTCTGTACAAG	0.418													G	117130660	T	G	117130660	3	3	33	1	0	0	0	0	1	0	0	0	6728	1606	56	5	2485	5	GPRC6A	6	117130660	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	41286132	117130660	53984407	123	33547											
SLC35F1	222553	broad.mit.edu	37	chr6	118635300	118635300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagtgtataagcagttccGcaatccttcaggacctgttg	10	11	1	0	rs138680595	byFrequency	TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr6:118635300G>A	uc003pxx.3	+	8	1313	c.1112G>A	c.(1111-1113)CGC>CAC	p.R371H	SLC35F1_uc003pxy.1_Missense_Mutation_p.R176H	NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	371					transport	integral to membrane				breast(1)	1				GBM - Glioblastoma multiforme(226;0.217)		AAGCAGTTCCGCAATCCTTCA	0.557													A	118635300	G	A	118635300	3	1	33	1	0	0	0	0	1	0	0	0	14588	1087	38	1	1142	1	SLC35F1	6	118635300	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	1504640	118635300	52479767	124	33548											
C6orf174	387104	broad.mit.edu	37	chr6	127834069	127834069	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagttcattctgtaaagcTtgctttgcaatttcaacttc	5	10	3	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr6:127834069T>C	uc003qbd.2	-	4	2317	c.1452A>G	c.(1450-1452)CAA>CAG	p.Q484Q		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	484	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		TCTGTAAAGCTTGCTTTGCAA	0.328													C	127834069	T	C	127834069	2	2	33	1	0	0	0	0	0	0	0	1	2345	1606	56	3		3	C6orf174	6	127834069	Silent	SNP	T	TCGA-BR-6458-01A-11D-1800-08	9198769	127834069	43280998	125	33549											
UTRN	7402	broad.mit.edu	37	chr6	144768817	144768817	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatgtgggacaattacTtgataattccaaggcatcta	9	8	1	1	rs116045799	by1000genomes	TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr6:144768817T>G	uc003qkt.2	+	15	1894	c.1802T>G	c.(1801-1803)CTT>CGT	p.L601R	UTRN_uc010khq.1_Missense_Mutation_p.L601R	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	601	Interaction with SYNM.|Spectrin 4.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGACAATTACTTGATAATTCC	0.398													G	144768817	T	G	144768817	3	3	33	1	0	0	0	0	1	0	0	0	17100	1609	56	5	1860	5	UTRN	6	144768817	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	16934748	144768817	26346250	126	33550											
UTRN	7402	broad.mit.edu	37	chr6	144801062	144801062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaggaagaatatttggagCgggattttgagtacaagtca	13	5	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr6:144801062C>T	uc003qkt.2	+	25	3543	c.3451C>T	c.(3451-3453)CGG>TGG	p.R1151W	UTRN_uc010khq.1_Missense_Mutation_p.R1151W	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1151	Spectrin 8.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATATTTGGAGCGGGATTTTGA	0.507													T	144801062	C	T	144801062	3	4	33	1	0	0	0	0	1	0	0	0	17100	759	27	1	3549	1	UTRN	6	144801062	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	32245	144801062	26314005	127	33551											
UTRN	7402	broad.mit.edu	37	chr6	144832238	144832238	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagttcgtacctggactgaAgattggtgcaataccttgat	11	8	0	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr6:144832238A>C	uc003qkt.2	+	34	5015	c.4923A>C	c.(4921-4923)GAA>GAC	p.E1641D		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1641	Interaction with SYNM.|Spectrin 11.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCTGGACTGAAGATTGGTGCA	0.418													C	144832238	A	C	144832238	3	2	33	1	0	0	0	0	1	0	0	0	17100	69	3	5	5057	5	UTRN	6	144832238	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	31176	144832238	26282829	128	33552											
FBXO30	84085	broad.mit.edu	37	chr6	146125620	146125620	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacacacatccctcattaacTtggatacacatgagagctga	6	12	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr6:146125620T>A	uc003qla.2	-	2	2121	c.1922A>T	c.(1921-1923)AAG>ATG	p.K641M	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	641							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CCTCATTAACTTGGATACACA	0.463													A	146125620	T	A	146125620	3	1	33	1	0	0	0	0	1	0	0	0	5740	1609	56	5	323	5	FBXO30	6	146125620	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	1293382	146125620	24989447	129	33553											
SYNE1	23345	broad.mit.edu	37	chr6	152590341	152590341	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggtccatgtggtgcgagcTtgggccagccattcctggac	15	11	0	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr6:152590341T>C	uc010kiw.2	-	99	19256	c.18654A>G	c.(18652-18654)CAA>CAG	p.Q6218Q	SYNE1_uc010kiv.2_Silent_p.Q742Q|SYNE1_uc003qos.3_Silent_p.Q742Q|SYNE1_uc003qot.3_Silent_p.Q6147Q|SYNE1_uc003qou.3_Silent_p.Q6218Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6218	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)		TGGTGCGAGCTTGGGCCAGCC	0.557										HNSCC(10;0.0054)			C	152590341	T	C	152590341	2	2	33	1	0	0	0	0	0	0	0	1	15442	1606	56	3		3	SYNE1	6	152590341	Silent	SNP	T	TCGA-BR-6458-01A-11D-1800-08	6464721	152590341	18524726	130	33554											
RGS17	26575	broad.mit.edu	37	chr6	153332885	153332885	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatcacctctctaactcgagAatcaagactgacctaaaaag	6	11	3	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr6:153332885A>T	uc003qpm.2	-	5	613	c.457T>A	c.(457-459)TCT>ACT	p.S153T		NM_012419	NP_036551	Q9UGC6	RGS17_HUMAN	regulator of G-protein signalling 17	153	RGS.				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			pancreas(1)	1		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		CTAACTCGAGAATCAAGACTG	0.328									Lung_Cancer_Familial_Clustering_of				T	153332885	A	T	153332885	3	4	33	1	0	0	0	0	1	0	0	0	13299	246	9	5	179	5	RGS17	6	153332885	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	742544	153332885	17782182	131	33555											
T	6862	broad.mit.edu	37	chr6	166571913	166571913	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcggccgccccttcgtacaGtggggatcccgaggaagagg	16	13	0	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr6:166571913G>T	uc003quu.1	-	9	1691	c.1198C>A	c.(1198-1200)CTG>ATG	p.L400M	T_uc003qut.1_Missense_Mutation_p.L401M|T_uc003quv.1_Missense_Mutation_p.L342M	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	400					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CCTTCGTACAGTGGGGATCCC	0.692									Chordoma_Familial_Clustering_of				T	166571913	G	T	166571913	3	4	33	1	0	0	0	0	1	0	0	0	15485	1020	36	5	113	5	T	6	166571913	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	13239028	166571913	4543154	132	33556											
DNAH11	8701	broad.mit.edu	37	chr7	21603831	21603831	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaagcccaagatgtggaacTttacctgagacctctgagga	11	10	1	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr7:21603831T>G	uc003svc.2	+	6	1041	c.1010T>G	c.(1009-1011)CTT>CGT	p.L337R		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	337	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GATGTGGAACTTTACCTGAGA	0.408									Kartagener_syndrome				G	21603831	T	G	21603831	3	3	33	1	0	0	0	0	1	0	0	0	4599	1609	56	5	1032	5	DNAH11	7	21603831	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08		21603831	137534832	133	33557											
DNAH11	8701	broad.mit.edu	37	chr7	21630894	21630894	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctctgattgaagatgagcTgagggctattgacgagcagc	13	9	1	6			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr7:21630894T>G	uc003svc.2	+	14	2397	c.2366T>G	c.(2365-2367)CTG>CGG	p.L789R		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	789	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GAAGATGAGCTGAGGGCTATT	0.512									Kartagener_syndrome				G	21630894	T	G	21630894	3	3	33	1	0	0	0	0	1	0	0	0	4599	1580	55	5	2420	5	DNAH11	7	21630894	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	27063	21630894	137507769	134	33558											
HOXA11	3207	broad.mit.edu	37	chr7	27224672	27224672	+	Missense_Mutation	SNP	G	G	A													gggtctggggcagaaaagaaGggaggctggagaaatctgga							TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr7:27224672G>A	uc003syx.2	-	1	164	c.92C>T	c.(91-93)CCT>CTT	p.P31L	HOXA11_uc003syy.2_Intron|HOXA11AS_uc003syz.1_5'Flank	NM_005523	NP_005514	P31270	HXA11_HUMAN	homeobox A11	31					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|breast(1)	2						CAGAAAAGAAGGGAGGCTGGA	0.537			T	NUP98	CML						OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	27224672	G	A	27224672	3	1	33	1	0	0	0	0	1	0	0	0	7290	1000	35	4	857	4	HOXA11	7	27224672	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	5593778	27224672	131913991	135	33559	114	2									
HOXA11	3207	broad.mit.edu	37	chr7	27224674	27224674	+	Silent	SNP	G	G	A													gtctggggcagaaaagaaggGaggctggagaaatctggacc							TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr7:27224674G>A	uc003syx.2	-	1	162	c.90C>T	c.(88-90)CTC>CTT	p.L30L	HOXA11_uc003syy.2_Intron|HOXA11AS_uc003syz.1_5'Flank	NM_005523	NP_005514	P31270	HXA11_HUMAN	homeobox A11	30					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|breast(1)	2						GAAAAGAAGGGAGGCTGGAGA	0.537			T	NUP98	CML						OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	27224674	G	A	27224674	2	1	33	1	0	0	0	0	0	0	0	1	7290	1161	41	4		4	HOXA11	7	27224674	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08	2	27224674	131913989	136	33560	114	2									
CCM2	83605	broad.mit.edu	37	chr7	45078002	45078002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccagacagactgctgagcGactatattgagaaggaggta	13	7	0	4			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr7:45078002G>A	uc003tmo.2	+	2	327	c.181G>A	c.(181-183)GAC>AAC	p.D61N	CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Intron|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Missense_Mutation_p.D61N|CCM2_uc011kcb.1_Intron|CCM2_uc011kcc.1_Missense_Mutation_p.D82N|CCM2_uc003tms.2_Missense_Mutation_p.D82N	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 2	61	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0						ACTGCTGAGCGACTATATTGA	0.532									Familial_Cerebral_Cavernous_Angioma				A	45078002	G	A	45078002	3	1	33	1	0	0	0	0	1	0	0	0	2908	1058	37	1	284	1	CCM2	7	45078002	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	17853328	45078002	114060661	137	33561											
AUTS2	26053	broad.mit.edu	37	chr7	69364348	69364348	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagaagaaacgagaagcacTtaccaatggcttgtcctttc	8	10	0	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr7:69364348T>G	uc003tvw.3	+	2	1129	c.386T>G	c.(385-387)CTT>CGT	p.L129R	AUTS2_uc003tvv.3_Missense_Mutation_p.L129R|AUTS2_uc003tvx.3_Missense_Mutation_p.L129R	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	129										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CGAGAAGCACTTACCAATGGC	0.483													G	69364348	T	G	69364348	3	3	33	1	0	0	0	0	1	0	0	0	1225	1609	56	5	392	5	AUTS2	7	69364348	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	24286346	69364348	89774315	138	33562											
WBSCR17	64409	broad.mit.edu	37	chr7	70886007	70886007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggtacgagaactcggcccAcgggtacagctgggagctgt	16	11	0	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr7:70886007A>G	uc003tvy.2	+	5	878	c.878A>G	c.(877-879)CAC>CGC	p.H293R	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	293	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AACTCGGCCCACGGGTACAGC	0.582													G	70886007	A	G	70886007	3	3	33	1	0	0	0	0	1	0	0	0	17261	159	6	3	896	3	WBSCR17	7	70886007	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	1521659	70886007	88252656	139	33563											
WBSCR17	64409	broad.mit.edu	37	chr7	70886090	70886090	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagacccttctctccccatcAggtctgtggctggtgagcct	11	14	3	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr7:70886090A>G	uc003tvy.2	+	5	961	c.961A>G	c.(961-963)AGG>GGG	p.R321G	WBSCR17_uc003tvz.2_Missense_Mutation_p.R20G	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	321	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TCTCCCCATCAGGTCTGTGGC	0.607													G	70886090	A	G	70886090	3	3	33	1	0	0	0	0	1	0	0	0	17261	202	7	3	979	3	WBSCR17	7	70886090	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	83	70886090	88252573	140	33564											
PCLO	27445	broad.mit.edu	37	chr7	82387919	82387919	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgagtaggactgaccaaaAgtttgtgccagttgactatt	10	6	0	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr7:82387919A>G	uc003uhx.2	-	25	15690	c.15401T>C	c.(15400-15402)CTT>CCT	p.L5134P		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	5057					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ACTGACCAAAAGTTTGTGCCA	0.388													G	82387919	A	G	82387919	3	3	33	1	0	0	0	0	1	0	0	0	11583	72	3	3	31	3	PCLO	7	82387919	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	11501829	82387919	76750744	141	33565											
PCLO	27445	broad.mit.edu	37	chr7	82545548	82545548	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagtctgataaggtgaaacTtgctgatggtacaaagtttg	12	4	1	4			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr7:82545548T>C	uc003uhx.2	-	7	12043	c.11754A>G	c.(11752-11754)CAA>CAG	p.Q3918Q	PCLO_uc003uhv.2_Silent_p.Q3918Q|PCLO_uc010lec.2_Silent_p.Q883Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3849	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AAGGTGAAACTTGCTGATGGT	0.463													C	82545548	T	C	82545548	2	2	33	1	0	0	0	0	0	0	0	1	11583	1606	56	3		3	PCLO	7	82545548	Silent	SNP	T	TCGA-BR-6458-01A-11D-1800-08	157629	82545548	76593115	142	33566											
PCLO	27445	broad.mit.edu	37	chr7	82545671	82545671	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacttgtcggaggaactagTtgagattctgtttgggtttg	15	4	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr7:82545671T>G	uc003uhx.2	-	7	11920	c.11631A>C	c.(11629-11631)CAA>CAC	p.Q3877H	PCLO_uc003uhv.2_Missense_Mutation_p.Q3877H|PCLO_uc010lec.2_Missense_Mutation_p.Q842H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3808	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GAGGAACTAGTTGAGATTCTG	0.473													G	82545671	T	G	82545671	3	3	33	1	0	0	0	0	1	0	0	0	11583	1722	60	5	3890	5	PCLO	7	82545671	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	123	82545671	76592992	143	33567											
AKAP9	10142	broad.mit.edu	37	chr7	91708757	91708757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcagcttaaagagagaacGtgaaagtgtggaaaagattc	11	4	1	4			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr7:91708757G>A	uc003ulg.2	+	31	7535	c.7310G>A	c.(7309-7311)CGT>CAT	p.R2437H	AKAP9_uc003ulf.2_Missense_Mutation_p.R2429H|AKAP9_uc003uli.2_Missense_Mutation_p.R2060H|AKAP9_uc003ulj.2_Missense_Mutation_p.R207H	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2449	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAGAGAGAACGTGAAAGTGTG	0.348			T	BRAF	papillary thyroid								A	91708757	G	A	91708757	3	1	33	1	0	0	0	0	1	0	0	0	459	1145	40	1	7432	1	AKAP9	7	91708757	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	9163086	91708757	67429906	144	33568											
CDK6	1021	broad.mit.edu	37	chr7	92355004	92355004	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgaagtcagcgagttttattTgtccgctgctggtcaccaga	11	10	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr7:92355004T>A	uc011khw.1	-	4	885	c.473A>T	c.(472-474)CAA>CTA	p.Q158L	CDK6_uc010lez.2_Missense_Mutation_p.Q158L	NM_001259	NP_001250	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	158	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|skin(1)	2	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GAGTTTTATTTGTCCGCTGCT	0.463			T	MLLT10	ALL								A	92355004	T	A	92355004	3	1	33	1	0	0	0	0	1	0	0	0	3148	1812	63	5	527	5	CDK6	7	92355004	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	646247	92355004	66783659	145	33569											
PPP1R9A	55607	broad.mit.edu	37	chr7	94540772	94540772	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttggattgccagaagaagaAgaaatcccagcaaataggaa	11	6	0	4			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr7:94540772A>C	uc003unp.2	+	2	1629	c.1347A>C	c.(1345-1347)GAA>GAC	p.E449D	PPP1R9A_uc010lfj.2_Missense_Mutation_p.E449D|PPP1R9A_uc011kif.1_Missense_Mutation_p.E449D|PPP1R9A_uc003unq.2_Missense_Mutation_p.E449D|PPP1R9A_uc011kig.1_Missense_Mutation_p.E449D	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	449	Poly-Glu.|Interacts with protein phosphatase 1 (By similarity).					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAGAAGAAGAAGAAATCCCAG	0.383										HNSCC(28;0.073)			C	94540772	A	C	94540772	3	2	33	1	0	0	0	0	1	0	0	0	12378	69	3	5	1349	5	PPP1R9A	7	94540772	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	2185768	94540772	64597891	146	33570											
ZNF498	221785	broad.mit.edu	37	chr7	99217362	99217362	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagacttttcggctgaggTttcggcagttccgctaccag	12	11	0	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr7:99217362T>G	uc003url.1	+	4	460	c.133T>G	c.(133-135)TTT>GTT	p.F45V	ZNF498_uc003urm.1_5'UTR|ZNF498_uc010lge.1_5'UTR|ZNF498_uc003urn.2_RNA|ZNF498_uc010lgf.1_Missense_Mutation_p.F45V|ZNF498_uc003uro.1_5'Flank	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	45	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					TCGGCTGAGGTTTCGGCAGTT	0.587													G	99217362	T	G	99217362	3	3	33	1	0	0	0	0	1	0	0	0	17944	1725	60	5	135	5	ZNF498	7	99217362	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	4676590	99217362	59921301	147	33571											
STAG3	10734	broad.mit.edu	37	chr7	99796118	99796118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacatggaaggggtgctgaCggacgcggattgtgagagcg	19	6	0	2	rs147690401		TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr7:99796118C>T	uc003utx.1	+	13	1420	c.1265C>T	c.(1264-1266)ACG>ATG	p.T422M	STAG3_uc010lgs.1_Missense_Mutation_p.T210M|STAG3_uc011kjk.1_Missense_Mutation_p.T364M|STAG3_uc003uub.1_5'Flank	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	422					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGGTGCTGACGGACGCGGAT	0.532													T	99796118	C	T	99796118	3	4	33	1	0	0	0	0	1	0	0	0	15243	536	19	1	1311	1	STAG3	7	99796118	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	578756	99796118	59342545	148	33572											
RELN	5649	broad.mit.edu	37	chr7	103294587	103294587	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgttatatgctcttttcTtccttcaatttttgcataca	4	9	3	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr7:103294587T>G	uc003vca.2	-	13	1667	c.1507A>C	c.(1507-1509)AGA>CGA	p.R503R	RELN_uc010liz.2_Silent_p.R503R	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	503					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGCTCTTTTCTTCCTTCAATT	0.393													G	103294587	T	G	103294587	2	3	33	1	0	0	0	0	0	0	0	1	13220	1617	56	5		5	RELN	7	103294587	Silent	SNP	T	TCGA-BR-6458-01A-11D-1800-08	3498469	103294587	55844076	149	33573											
PRKAR2B	5577	broad.mit.edu	37	chr7	106793689	106793689	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacgatggagaacaaatcaTtgctcaggtatgatattttg	9	6	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr7:106793689T>C	uc003vdx.2	+	8	1086	c.911T>C	c.(910-912)ATT>ACT	p.I304T		NM_002736	NP_002727	P31323	KAP3_HUMAN	cAMP-dependent protein kinase, regulatory	304	cAMP 2.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1						GAACAAATCATTGCTCAGGTA	0.303													C	106793689	T	C	106793689	3	2	33	1	0	0	0	0	1	0	0	0	12506	1493	52	3	941	3	PRKAR2B	7	106793689	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	3499102	106793689	52344974	150	33574											
LAMB4	22798	broad.mit.edu	37	chr7	107732089	107732089	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	accaaaggcgccagtccttgGagtgttgtggcttcctctgc	12	12	1	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr7:107732089G>T	uc010ljo.1	-	14	1767	c.1683C>A	c.(1681-1683)CTC>CTA	p.L561L	LAMB4_uc003vey.2_Silent_p.L561L	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	561	Laminin IV type B.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						CCAGTCCTTGGAGTGTTGTGG	0.458													T	107732089	G	T	107732089	2	4	33	1	0	0	0	0	0	0	0	1	8613	1161	41	5		5	LAMB4	7	107732089	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08	938400	107732089	51406574	151	33575											
TAS2R16	50833	broad.mit.edu	37	chr7	122635486	122635486	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaattaaaataggagcaaAaattgttcagcattgatgcc	7	6	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr7:122635486A>C	uc003vkl.1	-	1	269	c.203T>G	c.(202-204)TTT>TGT	p.F68C		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	68	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2						ATAGGAGCAAAAATTGTTCAG	0.408													C	122635486	A	C	122635486	3	2	33	1	0	0	0	0	1	0	0	0	15566	14	1	5	676	5	TAS2R16	7	122635486	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	14903397	122635486	36503177	152	33576											
OR2A12	346525	broad.mit.edu	37	chr7	143792445	143792445	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactgtccctaagatgctagCaaatcttgtgatgcacaaaa	7	9	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr7:143792445C>A	uc011kty.1	+	1	245	c.245C>A	c.(244-246)GCA>GAA	p.A82E		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A,	82	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	Melanoma(164;0.0783)					AAGATGCTAGCAAATCTTGTG	0.438													A	143792445	C	A	143792445	3	1	33	1	0	0	0	0	1	0	0	0	10975	710	25	5	247	5	OR2A12	7	143792445	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	21156959	143792445	15346218	153	33577											
CNTNAP2	26047	broad.mit.edu	37	chr7	147092834	147092834	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaaggaagccgggaagtttCgcgaatgtcagcattgacat	12	8	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr7:147092834C>T	uc003weu.1	+	10	2148	c.1632C>T	c.(1630-1632)TTC>TTT	p.F544F		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	544	Extracellular (Potential).|Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGGGAAGTTTCGCGAATGTCA	0.438										HNSCC(39;0.1)			T	147092834	C	T	147092834	2	4	33	1	0	0	0	0	0	0	0	1	3647	883	31	1		1	CNTNAP2	7	147092834	Silent	SNP	C	TCGA-BR-6458-01A-11D-1800-08	3300389	147092834	12045829	154	33578											
RP1L1	94137	broad.mit.edu	37	chr8	10465425	10465425	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcctcctgtgcctcctcTtctgcctccggggcctctac	8	19	4	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr8:10465425T>G	uc003wtc.2	-	4	6412	c.6183A>C	c.(6181-6183)GAA>GAC	p.E2061D		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2061					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GTGCCTCCTCTTCTGCCTCCG	0.627													G	10465425	T	G	10465425	3	3	33	1	0	0	0	0	1	0	0	0	13533	1606	56	5	1023	5	RP1L1	8	10465425	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08		10465425	135898597	155	33579											
USP17L2	377630	broad.mit.edu	37	chr8	11994773	11994773	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagggtgccagtgttcacGgactcctgatctgtccgggt	15	11	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr8:11994773G>A	uc003wvc.1	-	1	1497	c.1497C>T	c.(1495-1497)TCC>TCT	p.S499S	FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	deubiquitinating enzyme 3	499					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)	3						CAGTGTTCACGGACTCCTGAT	0.512													A	11994773	G	A	11994773	2	1	33	1	0	0	0	0	0	0	0	1	17045	1103	39	1		1	USP17L2	8	11994773	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08	1529348	11994773	134369249	156	33580											
DLC1	10395	broad.mit.edu	37	chr8	12946131	12946131	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagaggtgctgttctttaAgtaggcgctttaagatttcc	10	9	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr8:12946131A>G	uc003wwm.2	-	16	4601	c.4157T>C	c.(4156-4158)CTT>CCT	p.L1386P	DLC1_uc003wwk.1_Missense_Mutation_p.L949P|DLC1_uc003wwl.1_Missense_Mutation_p.L983P|DLC1_uc011kxx.1_Missense_Mutation_p.L875P	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1386	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						CTGTTCTTTAAGTAGGCGCTT	0.458													G	12946131	A	G	12946131	3	3	33	1	0	0	0	0	1	0	0	0	4550	72	3	3	441	3	DLC1	8	12946131	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	951358	12946131	133417891	157	33581											
EFHA2	286097	broad.mit.edu	37	chr8	16921715	16921715	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgactccgtatgatttTattttggctgttacaacaga	7	7	1	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr8:16921715T>C	uc003wxd.2	+	2	546	c.504T>C	c.(502-504)TTT>TTC	p.F168F		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	168						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		CGTATGATTTTATTTTGGCTG	0.348													C	16921715	T	C	16921715	2	2	33	1	0	0	0	0	0	0	0	1	4944	1751	61	3		3	EFHA2	8	16921715	Silent	SNP	T	TCGA-BR-6458-01A-11D-1800-08	3975584	16921715	129442307	158	33582											
LPL	4023	broad.mit.edu	37	chr8	19813350	19813350	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgtctcttttttacccAgatgtggaccagctagtgaa	10	8	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr8:19813350A>G	uc003wzk.3	+	6	1146	c.776_splice	c.e6-2	p.D259_splice		NM_000237	NP_000228	P06858	LIPL_HUMAN	lipoprotein lipase precursor						fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	TTTTTTACCCAGATGTGGACC	0.433													G	19813350	A	G	19813350	5	3	33	1	0	0	0	0	0	0	1	0	8921	202	7	3	796	3	LPL	8	19813350	Splice_Site	SNP	A	TCGA-BR-6458-01A-11D-1800-08	2891635	19813350	126550672	159	33583											
GFRA2	2675	broad.mit.edu	37	chr8	21562635	21562635	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atagttaggtgtcatgtcaaAccctgggcaggaagaaaggt	13	6	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr8:21562635A>C	uc003wzu.1	-	6	1582	c.907T>G	c.(907-909)TTT>GTT	p.F303V	GFRA2_uc003wzv.1_Missense_Mutation_p.F198V|GFRA2_uc003wzw.1_Missense_Mutation_p.F170V	NM_001495	NP_001486	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2 isoform a	303						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity				0				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GTCATGTCAAACCCTGGGCAG	0.632													C	21562635	A	C	21562635	3	2	33	1	0	0	0	0	1	0	0	0	6348	43	2	5	503	5	GFRA2	8	21562635	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	1749285	21562635	124801387	160	33584											
SORBS3	10174	broad.mit.edu	37	chr8	22428560	22428560	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctccggctctgtgacgaCggcccccagctccccacgtc	11	20	1	1	rs146729720		TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr8:22428560C>T	uc003xbv.2	+	18	1909	c.1569C>T	c.(1567-1569)GAC>GAT	p.D523D	SORBS3_uc003xbw.3_Silent_p.D181D	NM_005775	NP_005766	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3 isoform 1	523					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding				0		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TCTGTGACGACGGCCCCCAGC	0.711													T	22428560	C	T	22428560	2	4	33	1	0	0	0	0	0	0	0	1	14929	535	19	1		1	SORBS3	8	22428560	Silent	SNP	C	TCGA-BR-6458-01A-11D-1800-08	865925	22428560	123935462	161	33585											
FZD3	7976	broad.mit.edu	37	chr8	28385541	28385541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagtttatgatccggatcGgtgttttcagcattctttat	9	6	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr8:28385541G>A	uc003xgx.2	+	5	1742	c.1264G>A	c.(1264-1266)GGT>AGT	p.G422S	FZD3_uc010lvb.2_Missense_Mutation_p.G422S	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3 precursor	422	Helical; Name=6; (Potential).				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		GATCCGGATCGGTGTTTTCAG	0.403													A	28385541	G	A	28385541	3	1	33	1	0	0	0	0	1	0	0	0	6131	1116	39	1	1274	1	FZD3	8	28385541	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	5956981	28385541	117978481	162	33586											
FZD3	7976	broad.mit.edu	37	chr8	28385645	28385645	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaacgtggatacaagaAcgctgcagagaatatcacat	9	8	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr8:28385645A>C	uc003xgx.2	+	5	1846	c.1368A>C	c.(1366-1368)GAA>GAC	p.E456D	FZD3_uc010lvb.2_Missense_Mutation_p.E456D	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3 precursor	456	Extracellular (Potential).				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		GGATACAAGAACGCTGCAGAG	0.368													C	28385645	A	C	28385645	3	2	33	1	0	0	0	0	1	0	0	0	6131	40	2	5	1378	5	FZD3	8	28385645	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	104	28385645	117978377	163	33587											
GPR124	25960	broad.mit.edu	37	chr8	37697060	37697060	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggcacatgctgctgaacTtgtgcttccacatagccatg	10	12	0	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr8:37697060T>G	uc003xkj.2	+	16	2794	c.2431T>G	c.(2431-2433)TTG>GTG	p.L811V	GPR124_uc010lvy.2_Missense_Mutation_p.L594V	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	811	Helical; Name=2; (Potential).				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCTGCTGAACTTGTGCTTCCA	0.587													G	37697060	T	G	37697060	3	3	33	1	0	0	0	0	1	0	0	0	6638	1606	56	5	2472	5	GPR124	8	37697060	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	9311415	37697060	108666962	164	33588											
PXDNL	137902	broad.mit.edu	37	chr8	52321900	52321900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgagcccgcggggcgcgcGgatgccgtcccggtaggctg	19	15	0	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr8:52321900G>A	uc003xqu.3	-	17	2385	c.2284C>T	c.(2284-2286)CGC>TGC	p.R762C	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	762					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CGGGGCGCGCGGATGCCGTCC	0.791													A	52321900	G	A	52321900	3	1	33	1	0	0	0	0	1	0	0	0	12848	1116	39	1	2135	1	PXDNL	8	52321900	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	14624840	52321900	94042122	165	33589											
PREX2	80243	broad.mit.edu	37	chr8	69012014	69012014	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctactgaccttcagagtaAattcagtgccctttgcagtg	8	11	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr8:69012014A>C	uc003xxv.1	+	23	2678	c.2651A>C	c.(2650-2652)AAA>ACA	p.K884T	PREX2_uc003xxu.1_Missense_Mutation_p.K884T|PREX2_uc011lez.1_Missense_Mutation_p.K819T	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	884					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CTTCAGAGTAAATTCAGTGCC	0.348													C	69012014	A	C	69012014	3	2	33	1	0	0	0	0	1	0	0	0	12477	14	1	5	2741	5	PREX2	8	69012014	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	16690114	69012014	77352008	166	33590											
OSR2	116039	broad.mit.edu	37	chr8	99961704	99961704	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaagagtttatctgcaAgttttgcggcagacacttta	9	6	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr8:99961704A>C	uc003yir.2	+	2	1059	c.524A>C	c.(523-525)AAG>ACG	p.K175T	OSR2_uc010mbn.2_Missense_Mutation_p.K175T|OSR2_uc003yiq.2_Missense_Mutation_p.K175T|OSR2_uc011lgx.1_Missense_Mutation_p.K296T	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	175	C2H2-type 1.				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	p.K175R(1)		central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			TTTATCTGCAAGTTTTGCGGC	0.522													C	99961704	A	C	99961704	3	2	33	1	0	0	0	0	1	0	0	0	11294	72	3	5	526	5	OSR2	8	99961704	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	30949690	99961704	46402318	167	33591											
RIMS2	9699	broad.mit.edu	37	chr8	104898096	104898096	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggctcagggaccaagttcTtatgcacaaaggaccacaaa	10	10	2	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr8:104898096T>G	uc003yls.2	+	2	844	c.603T>G	c.(601-603)TCT>TCG	p.S201S	RIMS2_uc003ylp.2_Silent_p.S423S|RIMS2_uc003ylw.2_Silent_p.S231S|RIMS2_uc003ylq.2_Silent_p.S231S|RIMS2_uc003ylr.2_Silent_p.S231S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	454					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S231S(1)		ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACCAAGTTCTTATGCACAAA	0.478										HNSCC(12;0.0054)			G	104898096	T	G	104898096	2	3	33	1	0	0	0	0	0	0	0	1	13368	1596	56	5		5	RIMS2	8	104898096	Silent	SNP	T	TCGA-BR-6458-01A-11D-1800-08	4936392	104898096	41465926	168	33592											
ZFPM2	23414	broad.mit.edu	37	chr8	106813816	106813816	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttcctatctcagttttcTttcccccaagatatcaccat	2	15	3	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr8:106813816T>G	uc003ymd.2	+	8	1529	c.1506T>G	c.(1504-1506)TCT>TCG	p.S502S	ZFPM2_uc011lhs.1_Silent_p.S233S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	502					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTCAGTTTTCTTTCCCCCAAG	0.493													G	106813816	T	G	106813816	2	3	33	1	0	0	0	0	0	0	0	1	17655	1596	56	5		5	ZFPM2	8	106813816	Silent	SNP	T	TCGA-BR-6458-01A-11D-1800-08	1915720	106813816	39550206	169	33593											
OXR1	55074	broad.mit.edu	37	chr8	107718983	107718983	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgggactttatgtcataaaActgatttaaataatcttgaa	6	4	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr8:107718983A>C	uc011lht.1	+	8	1336	c.1237A>C	c.(1237-1239)ACT>CCT	p.T413P	OXR1_uc003ymf.2_Missense_Mutation_p.T412P|OXR1_uc011lhu.1_Missense_Mutation_p.T405P|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_Missense_Mutation_p.T110P|OXR1_uc003ymg.1_Missense_Mutation_p.T345P|OXR1_uc003ymi.1_Missense_Mutation_p.T324P	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	413					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			ATGTCATAAAACTGATTTAAA	0.348													C	107718983	A	C	107718983	3	2	33	1	0	0	0	0	1	0	0	0	11334	43	2	5	1467	5	OXR1	8	107718983	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	905167	107718983	38645039	170	33594											
SNTB1	6641	broad.mit.edu	37	chr8	121823876	121823876	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccagccccggcgccccTgcagaacgagccattggtgg	14	16	0	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr8:121823876T>G	uc010mdg.2	-	1	434	c.208A>C	c.(208-210)AGG>CGG	p.R70R	SNTB1_uc003ype.2_Silent_p.R70R	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	70	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			skin(5)	5	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			ccggcgccccTGCAGAACGAG	0.448													G	121823876	T	G	121823876	2	3	33	1	0	0	0	0	0	0	0	1	14872	1579	55	5		5	SNTB1	8	121823876	Silent	SNP	T	TCGA-BR-6458-01A-11D-1800-08	14104893	121823876	24540146	171	33595											
TG	7038	broad.mit.edu	37	chr8	133953600	133953600	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcctttcccccaggccaAggatccaccacaacacttca	5	18	2	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr8:133953600A>C	uc003ytw.2	+	26	5087	c.5046A>C	c.(5044-5046)CAA>CAC	p.Q1682H	TG_uc010mdw.2_Missense_Mutation_p.Q441H|TG_uc011ljb.1_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1682	Type IIIA.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCCCAGGCCAAGGATCCACCA	0.458													C	133953600	A	C	133953600	3	2	33	1	0	0	0	0	1	0	0	0	15810	69	3	5	5148	5	TG	8	133953600	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	12129724	133953600	12410422	172	33596											
TG	7038	broad.mit.edu	37	chr8	133961049	133961049	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atctgtgggttgctgagctcAcccagtgtcctgctttgtaa	11	10	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr8:133961049A>C	uc003ytw.2	+	27	5303	c.5262A>C	c.(5260-5262)TCA>TCC	p.S1754S	TG_uc010mdw.2_Silent_p.S513S|TG_uc011ljb.1_Silent_p.S123S	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1754	Type IIIB.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGCTGAGCTCACCCAGTGTCC	0.527													C	133961049	A	C	133961049	2	2	33	1	0	0	0	0	0	0	0	1	15810	146	6	5		5	TG	8	133961049	Silent	SNP	A	TCGA-BR-6458-01A-11D-1800-08	7449	133961049	12402973	173	33597											
PLEC	5339	broad.mit.edu	37	chr8	144991805	144991805	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgtaggccacctccacggGcagccggtggctctcctcag	12	16	2	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr8:144991805G>T	uc003zaf.1	-	32	12765	c.12595C>A	c.(12595-12597)CCC>ACC	p.P4199T	PLEC_uc003zab.1_Missense_Mutation_p.P4062T|PLEC_uc003zac.1_Missense_Mutation_p.P4066T|PLEC_uc003zad.2_Missense_Mutation_p.P4062T|PLEC_uc003zae.1_Missense_Mutation_p.P4030T|PLEC_uc003zag.1_Missense_Mutation_p.P4040T|PLEC_uc003zah.2_Missense_Mutation_p.P4048T|PLEC_uc003zaj.2_Missense_Mutation_p.P4089T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4199	Plectin 25.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						ACCTCCACGGGCAGCCGGTGG	0.627													T	144991805	G	T	144991805	3	4	33	1	0	0	0	0	1	0	0	0	12052	1203	42	5	1463	5	PLEC	8	144991805	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	11030756	144991805	1372217	174	33598											
PLEC	5339	broad.mit.edu	37	chr8	144997653	144997653	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgctccgcctgtgcccgCcgcgccgcctcttgctcggc	12	21	1	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr8:144997653C>T	uc003zaf.1	-	31	7025	c.6855G>A	c.(6853-6855)CGG>CGA	p.R2285R	PLEC_uc003zab.1_Silent_p.R2148R|PLEC_uc003zac.1_Silent_p.R2152R|PLEC_uc003zad.2_Silent_p.R2148R|PLEC_uc003zae.1_Silent_p.R2116R|PLEC_uc003zag.1_Silent_p.R2126R|PLEC_uc003zah.2_Silent_p.R2134R|PLEC_uc003zaj.2_Silent_p.R2175R	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2285	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCTGTGCCCGCCGCGCCGCCT	0.687													T	144997653	C	T	144997653	2	4	33	1	0	0	0	0	0	0	0	1	12052	726	26	2		2	PLEC	8	144997653	Silent	SNP	C	TCGA-BR-6458-01A-11D-1800-08	5848	144997653	1366369	175	33599											
EXOSC4	54512	broad.mit.edu	37	chr8	145135310	145135310	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgtggaggaagcagctggtGgcccccagctggccctggcc	16	13	0	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr8:145135310G>C	uc003zau.2	+	3	654	c.544G>C	c.(544-546)GGC>CGC	p.G182R	GPAA1_uc003zav.1_5'Flank|GPAA1_uc003zaw.1_5'Flank|GPAA1_uc003zax.2_5'Flank	NM_019037	NP_061910	Q9NPD3	EXOS4_HUMAN	exosome component 4	182					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCAGCTGGTGGCCCCCAGCT	0.652													C	145135310	G	C	145135310	3	2	33	1	0	0	0	0	1	0	0	0	5317	1348	47	5	554	5	EXOSC4	8	145135310	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	137657	145135310	1228712	176	33600											
C9orf93	203238	broad.mit.edu	37	chr9	15779060	15779060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcactacgcttagaggtcaCagaattcaaacgaagtgtga	9	9	3	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr9:15779060C>T	uc003zmd.2	+	20	3308	c.2993C>T	c.(2992-2994)ACA>ATA	p.T998I	C9orf93_uc003zme.2_Missense_Mutation_p.T913I|C9orf93_uc011lmu.1_Missense_Mutation_p.T1006I|C9orf93_uc003zmf.1_Missense_Mutation_p.T306I	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	998	Potential.										0				GBM - Glioblastoma multiforme(50;4.84e-07)		TTAGAGGTCACAGAATTCAAA	0.413													T	15779060	C	T	15779060	3	4	33	1	0	0	0	0	1	0	0	0	2506	478	17	4	3067	4	C9orf93	9	15779060	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08		15779060	125434371	177	33601											
KIF24	347240	broad.mit.edu	37	chr9	34256919	34256919	+	Frame_Shift_Del	DEL	T	T	-													tctgtggtttatggggtcccTggagtccacccagcttttag							TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr9:34256918_34256918CT>C	uc003zua.4	-	10	2807	c.2687_2687AG>G	c.(2686-2688)aggfs	p.R896fs	KIF24_uc010mkb.3_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	Homo sapiens kinesin family member 24 (KIF24), mRNA.	896					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TATGGGGTCCCTGGAGTCCAC	0.547													-	34256919	T	-	34256919	7	5	33	1	0	1	0	1	0	0	0	0	8292	1579	55	0	1432	0	KIF24	9	34256919	Frame_Shift_Del	DEL	T	TCGA-BR-6458-01A-11D-1800-08	18477859	34256919	106956512	178	33602											
TRPM3	80036	broad.mit.edu	37	chr9	73205969	73205969	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctatctggtccgcaaacacTtccccataaatcatccaata	3	14	3	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr9:73205969T>G	uc004aid.2	-	21	3409	c.3165A>C	c.(3163-3165)GAA>GAC	p.E1055D	TRPM3_uc004ahu.2_Missense_Mutation_p.E885D|TRPM3_uc004ahv.2_Missense_Mutation_p.E857D|TRPM3_uc004ahw.2_Missense_Mutation_p.E927D|TRPM3_uc004ahx.2_Missense_Mutation_p.E914D|TRPM3_uc004ahy.2_Missense_Mutation_p.E917D|TRPM3_uc004ahz.2_Missense_Mutation_p.E904D|TRPM3_uc004aia.2_Missense_Mutation_p.E902D|TRPM3_uc004aib.2_Missense_Mutation_p.E892D|TRPM3_uc004aic.2_Missense_Mutation_p.E1055D	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1080	Extracellular (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						CCGCAAACACTTCCCCATAAA	0.423													G	73205969	T	G	73205969	3	3	33	1	0	0	0	0	1	0	0	0	16584	1606	56	5	1978	5	TRPM3	9	73205969	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	38949050	73205969	68007462	179	33603											
COL15A1	1306	broad.mit.edu	37	chr9	101818614	101818614	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcctgggccacctggcTttggaagacctggtgatcct	13	12	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr9:101818614T>G	uc004azb.1	+	35	3471	c.3265T>G	c.(3265-3267)TTT>GTT	p.F1089V		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1089	Triple-helical region 8 (COL8).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				GCCACCTGGCTTTGGAAGACC	0.627													G	101818614	T	G	101818614	3	3	33	1	0	0	0	0	1	0	0	0	3672	1609	56	5	3403	5	COL15A1	9	101818614	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	28612645	101818614	39394817	180	33604											
INVS	27130	broad.mit.edu	37	chr9	103002501	103002501	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataacttatttcgaaccccaCtgcactgggcagctttatta	6	11	0	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr9:103002501C>A	uc004bap.1	+	6	987	c.775C>A	c.(775-777)CTG>ATG	p.L259M	INVS_uc010mta.1_Missense_Mutation_p.L163M|INVS_uc011lve.1_Missense_Mutation_p.L163M|INVS_uc004bao.1_Missense_Mutation_p.L259M|INVS_uc004baq.1_Missense_Mutation_p.L163M|INVS_uc004bar.1_Missense_Mutation_p.L163M|INVS_uc010mtb.1_Translation_Start_Site	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	259	ANK 8.				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				TCGAACCCCACTGCACTGGGC	0.413													A	103002501	C	A	103002501	3	1	33	1	0	0	0	0	1	0	0	0	7787	564	20	5	793	5	INVS	9	103002501	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	1183887	103002501	38210930	181	33605											
GRIN3A	116443	broad.mit.edu	37	chr9	104390538	104390538	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaagaggttgacactcacTtcagatactccactccatca	5	14	3	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr9:104390538T>C	uc004bbp.1	-	4	3099	c.2498A>G	c.(2497-2499)AAG>AGG	p.K833R	GRIN3A_uc004bbq.1_Missense_Mutation_p.K833R	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	833	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TGACACTCACTTCAGATACTC	0.398													C	104390538	T	C	104390538	3	2	33	1	0	0	0	0	1	0	0	0	6783	1623	56	3	873	3	GRIN3A	9	104390538	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	1388037	104390538	36822893	182	33606											
C9orf43	257169	broad.mit.edu	37	chr9	116185755	116185755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgggctcaatccgaagcGttacctcaggatctactgaa	9	12	4	1	rs141883275	by1000genomes	TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr9:116185755G>A	uc004bho.3	+	7	1029	c.633G>A	c.(631-633)GCG>GCA	p.A211A	C9orf43_uc004bhp.2_Silent_p.A211A	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	hypothetical protein LOC257169	211											0						AATCCGAAGCGTTACCTCAGG	0.502													A	116185755	G	A	116185755	2	1	33	1	0	0	0	0	0	0	0	1	2483	1132	40	1		1	C9orf43	9	116185755	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08	11795217	116185755	25027676	183	33607											
TRIM32	22954	broad.mit.edu	37	chr9	119461292	119461292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctaagcttccttggggCagatctacccaacctcactc	8	14	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr9:119461292C>T	uc004bjx.2	+	2	1429	c.1271C>T	c.(1270-1272)GCA>GTA	p.A424V	ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.A424V	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN	tripartite motif-containing 32	424	NHL 2.				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|kidney(1)	3						TTCCTTGGGGCAGATCTACCC	0.493									Bardet-Biedl_syndrome				T	119461292	C	T	119461292	3	4	33	1	0	0	0	0	1	0	0	0	16503	710	25	2	1273	2	TRIM32	9	119461292	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	3275537	119461292	21752139	184	33608											
OR1N2	138882	broad.mit.edu	37	chr9	125315533	125315533	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaaaccactgtttcagacTtcctccttctaggactctct	4	15	3	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr9:125315533T>C	uc011lyx.1	+	1	85	c.85T>C	c.(85-87)TTC>CTC	p.F29L		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N,	29	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4						TGTTTCAGACTTCCTCCTTCT	0.488													C	125315533	T	C	125315533	3	2	33	1	0	0	0	0	1	0	0	0	10970	1609	56	3	87	3	OR1N2	9	125315533	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	5854241	125315533	15897898	185	33609											
RALGPS1	9649	broad.mit.edu	37	chr9	129981048	129981048	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccttatgtcatttgagtaAgtctctgcaggacgtggcat	10	8	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr9:129981048A>G	uc004bqo.1	+	19	1941	c.1674A>G	c.(1672-1674)TAA>TAG	p.*558*		NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	558					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			ovary(1)	1						CATTTGAGTAAGTCTCTGCAG	0.552													G	129981048	A	G	129981048	2	3	33	1	0	0	0	0	0	0	0	1	13017	79	3	3		3	RALGPS1	9	129981048	Silent	SNP	A	TCGA-BR-6458-01A-11D-1800-08	4665515	129981048	11232383	186	33610											
COL5A1	1289	broad.mit.edu	37	chr9	137713968	137713968	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cactggtccttctggcccgaTtgggcctcctgggccccctg	12	17	1	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr9:137713968T>G	uc004cfe.2	+	59	4962	c.4580T>G	c.(4579-4581)ATT>AGT	p.I1527S	uc004cff.2_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1527	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCTGGCCCGATTGGGCCTCCT	0.622													G	137713968	T	G	137713968	3	3	33	1	0	0	0	0	1	0	0	0	3696	1493	52	5	4814	5	COL5A1	9	137713968	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	7732920	137713968	3499463	187	33611											
SNAPC4	6621	broad.mit.edu	37	chr9	139273391	139273391	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccaggagccagaagtgccaGgtttggctgccgcgggggcc	18	12	0	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr9:139273391G>C	uc004chh.2	-	21	2897	c.2888C>G	c.(2887-2889)CCT>CGT	p.P963R		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	963	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AGAAGTGCCAGGTTTGGCTGC	0.667													C	139273391	G	C	139273391	3	2	33	1	0	0	0	0	1	0	0	0	14837	1000	35	5	1529	5	SNAPC4	9	139273391	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	1559423	139273391	1940040	188	33612											
ITIH5	80760	broad.mit.edu	37	chr10	7658034	7658034	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggtctttaggagcaaAgtagtgcacaaaatagccat	11	6	1	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr10:7658034A>C	uc001ijq.2	-	7	929	c.850T>G	c.(850-852)TTT>GTT	p.F284V	ITIH5_uc001ijp.2_Missense_Mutation_p.F70V|ITIH5_uc001ijr.1_Missense_Mutation_p.F284V	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	284					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						TTAGGAGCAAAGTAGTGCACA	0.468													C	7658034	A	C	7658034	3	2	33	1	0	0	0	0	1	0	0	0	7907	72	3	5	2133	5	ITIH5	10	7658034	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08		7658034	127876713	189	33613											
APBB1IP	54518	broad.mit.edu	37	chr10	26789970	26789970	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagccaatatgaggatgactTaccacctccaccagccgatc	7	15	0	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr10:26789970T>A	uc001iss.2	+	5	704	c.383T>A	c.(382-384)TTA>TAA	p.L128*	APBB1IP_uc001isr.2_Nonsense_Mutation_p.L128*|APBB1IP_uc009xks.1_Nonsense_Mutation_p.L128*	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	128					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7						GAGGATGACTTACCACCTCCA	0.502													A	26789970	T	A	26789970	4	1	33	1	0	0	0	0	0	1	0	0	760	1764	61	5	393	5	APBB1IP	10	26789970	Nonsense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	19131936	26789970	108744777	190	33614											
SVIL	6840	broad.mit.edu	37	chr10	29813446	29813446	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgagtttgatagcgagcGttcattctcctctgtctcgt	11	10	4	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr10:29813446G>A	uc001iut.1	-	14	3294	c.2541C>T	c.(2539-2541)AAC>AAT	p.N847N	SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Silent_p.N421N	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	847					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				GATAGCGAGCGTTCATTCTCC	0.478													A	29813446	G	A	29813446	2	1	33	1	0	0	0	0	0	0	0	1	15418	1136	40	1		1	SVIL	10	29813446	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08	3023476	29813446	105721301	191	33615											
ZEB1	6935	broad.mit.edu	37	chr10	31809813	31809813	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatcttactgttaagtctgAgaaggacaaaagctttgaag	10	5	2	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr10:31809813A>C	uc001ivs.3	+	7	1613	c.1550A>C	c.(1549-1551)GAG>GCG	p.E517A	ZEB1_uc001ivr.3_Missense_Mutation_p.E299A|ZEB1_uc010qee.1_Missense_Mutation_p.E299A|ZEB1_uc010qef.1_Missense_Mutation_p.E299A|ZEB1_uc009xlj.1_Missense_Mutation_p.E443A|ZEB1_uc010qeg.1_Missense_Mutation_p.E376A|ZEB1_uc009xlk.1_Missense_Mutation_p.E299A|ZEB1_uc001ivt.3_Missense_Mutation_p.E299A|ZEB1_uc001ivu.3_Missense_Mutation_p.E518A|ZEB1_uc001ivv.3_Missense_Mutation_p.E497A|ZEB1_uc010qeh.1_Missense_Mutation_p.E450A|ZEB1_uc009xlo.1_Missense_Mutation_p.E500A|ZEB1_uc009xlp.2_Missense_Mutation_p.E501A	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	517					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				GTTAAGTCTGAGAAGGACAAA	0.363													C	31809813	A	C	31809813	3	2	33	1	0	0	0	0	1	0	0	0	17620	304	11	5	1590	5	ZEB1	10	31809813	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	1996367	31809813	103724934	192	33616											
EPC1	80314	broad.mit.edu	37	chr10	32560982	32560982	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaaggacgccattcaccccGattccaagcaccacatcatc	7	16	2	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr10:32560982G>A	uc001iwg.1	-	13	2316	c.2046C>T	c.(2044-2046)ATC>ATT	p.I682I	EPC1_uc001iwi.3_Silent_p.I609I|EPC1_uc001iwh.1_Silent_p.I659I	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	enhancer of polycomb 1	682					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				ovary(3)|central_nervous_system(1)	4		Prostate(175;0.0199)				CATTCACCCCGATTCCAAGCA	0.388													A	32560982	G	A	32560982	2	1	33	1	0	0	0	0	0	0	0	1	5160	1048	37	1		1	EPC1	10	32560982	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08	751169	32560982	102973765	193	33617											
NRP1	8829	broad.mit.edu	37	chr10	33515169	33515169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggtttcttttgaaatggCgccctgtgtcccgacagccg	11	12	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr10:33515169C>T	uc001iwx.3	-	7	1553	c.1030G>A	c.(1030-1032)GCC>ACC	p.A344T	NRP1_uc001iwv.3_Missense_Mutation_p.A344T|NRP1_uc009xlz.2_Missense_Mutation_p.A344T|NRP1_uc001iww.3_Missense_Mutation_p.A163T|NRP1_uc001iwy.3_Missense_Mutation_p.A344T|NRP1_uc001iwz.2_Missense_Mutation_p.A344T|NRP1_uc001ixa.2_Missense_Mutation_p.A344T|NRP1_uc001ixb.1_Missense_Mutation_p.A344T|NRP1_uc001ixc.1_Missense_Mutation_p.A344T	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	344	F5/8 type C 1.|Extracellular (Potential).				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	TTTGAAATGGCGCCCTGTGTC	0.483													T	33515169	C	T	33515169	3	4	33	1	0	0	0	0	1	0	0	0	10660	768	27	1	1796	1	NRP1	10	33515169	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	954187	33515169	102019578	194	33618											
FZD8	8325	broad.mit.edu	37	chr10	35928827	35928827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgcttgatgaccgagcGgatgcggaagagggacacga	16	8	0	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr10:35928827G>A	uc001iyz.1	-	1	1536	c.1531C>T	c.(1531-1533)CGC>TGC	p.R511C		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	511	Cytoplasmic (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0						ATGACCGAGCGGATGCGGAAG	0.637													A	35928827	G	A	35928827	3	1	33	1	0	0	0	0	1	0	0	0	6136	1116	39	1	557	1	FZD8	10	35928827	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	2413658	35928827	99605920	195	33619											
MARCH8	220972	broad.mit.edu	37	chr10	45954591	45954591	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctgcccctgcttgatcTcctcagcagtacggtcaatg	9	14	3	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr10:45954591T>C	uc001jci.1	-	6	787	c.548A>G	c.(547-549)GAG>GGG	p.E183G	MARCH8_uc001jch.2_Missense_Mutation_p.E465G|MARCH8_uc001jcj.1_Missense_Mutation_p.E183G|MARCH8_uc001jck.1_Missense_Mutation_p.E183G|uc001jcf.2_5'Flank|MARCH8_uc001jcg.1_Missense_Mutation_p.E52G	NM_001002266	NP_001002266	Q5T0T0	MARH8_HUMAN	cellular modulator of immune recognition isoform	183						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding				0						CTGCTTGATCTCCTCAGCAGT	0.557													C	45954591	T	C	45954591	3	2	33	1	0	0	0	0	1	0	0	0	9307	1551	54	3	335	3	MARCH8	10	45954591	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	10025764	45954591	89580156	196	33620											
AGAP7	653268	broad.mit.edu	37	chr10	51465248	51465248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcccgctcctcatatgtcGtggcttcaaagtgccacgtt	8	14	2	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr10:51465248G>A	uc001jio.2	-	7	1334	c.1208C>T	c.(1207-1209)ACG>ATG	p.T403M	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	403	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						CTCATATGTCGTGGCTTCAAA	0.512													A	51465248	G	A	51465248	3	1	33	1	0	0	0	0	1	0	0	0	373	1145	40	1	787	1	AGAP7	10	51465248	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	5510657	51465248	84069499	197	33621											
PRKG1	5592	broad.mit.edu	37	chr10	53564348	53564348	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttatttttctccagctcTtgtaaatgtaaaactctggg	6	8	3	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr10:53564348T>G	uc001jjm.2	+	4	745	c.551T>G	c.(550-552)CTT>CGT	p.L184R	PRKG1_uc001jjn.2_Missense_Mutation_p.L199R|PRKG1_uc001jjo.2_Missense_Mutation_p.L199R	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	184	cGMP 1.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TCTCCAGCTCTTGTAAATGTA	0.343													G	53564348	T	G	53564348	3	3	33	1	0	0	0	0	1	0	0	0	12522	1609	56	5	880	5	PRKG1	10	53564348	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	2099100	53564348	81970399	198	33622											
RHOBTB1	9886	broad.mit.edu	37	chr10	62631271	62631271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagatgaattccagaagCaccactttcgtcttgagcga	10	10	1	4			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr10:62631271C>T	uc001jli.2	-	12	2498	c.2060G>A	c.(2059-2061)TGC>TAC	p.C687Y	RHOBTB1_uc001jlh.2_Missense_Mutation_p.C687Y|RHOBTB1_uc001jlj.2_Missense_Mutation_p.C687Y|RHOBTB1_uc001jlk.2_Missense_Mutation_p.C687Y|RHOBTB1_uc009xpe.1_Missense_Mutation_p.C625Y|RHOBTB1_uc009xpd.2_3'UTR|RHOBTB1_uc001jll.2_Missense_Mutation_p.C437Y	NM_014836	NP_055651	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	687					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			upper_aerodigestive_tract(1)	1	Prostate(12;0.0112)					ATTCCAGAAGCACCACTTTCG	0.428													T	62631271	C	T	62631271	3	4	33	1	0	0	0	0	1	0	0	0	13333	710	25	2	34	2	RHOBTB1	10	62631271	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	9066923	62631271	72903476	199	33623											
SIRT1	23411	broad.mit.edu	37	chr10	69672625	69672625	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaccacaggaagtacaaacTtctaggaatgttgaaagtat	8	6	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr10:69672625T>G	uc001jnd.2	+	8	1805	c.1752T>G	c.(1750-1752)ACT>ACG	p.T584T	SIRT1_uc010qis.1_Silent_p.T289T|SIRT1_uc009xpp.2_Silent_p.T392T|SIRT1_uc001jne.2_Silent_p.T281T	NM_012238	NP_036370	Q96EB6	SIRT1_HUMAN	sirtuin 1 isoform a	584					apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding				0						AAGTACAAACTTCTAGGAATG	0.373													G	69672625	T	G	69672625	2	3	33	1	0	0	0	0	0	0	0	1	14337	1596	56	5		5	SIRT1	10	69672625	Silent	SNP	T	TCGA-BR-6458-01A-11D-1800-08	7041354	69672625	65862122	200	33624											
MYPN	84665	broad.mit.edu	37	chr10	69882022	69882022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggttcactcaaaagttacGgagcagagaagttccagaag	11	9	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr10:69882022G>A	uc001jnm.3	+	3	1012	c.827G>A	c.(826-828)CGG>CAG	p.R276Q	MYPN_uc001jnl.1_Missense_Mutation_p.R276Q|MYPN_uc001jnn.3_Intron|MYPN_uc001jno.3_Missense_Mutation_p.R276Q|MYPN_uc001jnp.1_Missense_Mutation_p.R276Q|MYPN_uc009xps.2_Missense_Mutation_p.R276Q|MYPN_uc009xpt.2_Missense_Mutation_p.R276Q|MYPN_uc010qit.1_5'UTR|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	276	Interaction with CARP.|Ig-like 1.					nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						CAAAAGTTACGGAGCAGAGAA	0.493													A	69882022	G	A	69882022	3	1	33	1	0	0	0	0	1	0	0	0	10098	1116	39	1	829	1	MYPN	10	69882022	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	209397	69882022	65652725	201	33625											
SLC29A3	55315	broad.mit.edu	37	chr10	73082526	73082526	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaatagtggccgttgtctcAgaggacgactttcagcacag	11	11	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr10:73082526A>C	uc001jrr.3	+	2	72	c.15A>C	c.(13-15)TCA>TCC	p.S5S	SLC29A3_uc001jrs.3_Silent_p.S5S|SLC29A3_uc010qjq.1_5'UTR|SLC29A3_uc001jrt.3_5'UTR|SLC29A3_uc001jru.3_5'UTR	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (nucleoside	5	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity				0						CCGTTGTCTCAGAGGACGACT	0.572													C	73082526	A	C	73082526	2	2	33	1	0	0	0	0	0	0	0	1	14536	175	7	5		5	SLC29A3	10	73082526	Silent	SNP	A	TCGA-BR-6458-01A-11D-1800-08	3200504	73082526	62452221	202	33626											
LRIT1	26103	broad.mit.edu	37	chr10	86001132	86001132	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcattgagaggggcagaAgccccgggcctgggggggcc	20	11	0	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr10:86001132A>C	uc001kcz.1	-	1	86	c.64T>G	c.(64-66)TTC>GTC	p.F22V		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	22	Lumenal (Potential).|LRRNT.					integral to endoplasmic reticulum membrane					0						GAGGGGCAGAAGCCCCGGGCC	0.662													C	86001132	A	C	86001132	3	2	33	1	0	0	0	0	1	0	0	0	8947	72	3	5	1823	5	LRIT1	10	86001132	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	12918606	86001132	49533615	203	33627											
IFIT3	3437	broad.mit.edu	37	chr10	91098757	91098757	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agactctcagatgctcagatTtatgtagataaggtgaaaca	9	6	2	5			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr10:91098757T>G	uc001kgf.2	+	2	574	c.345T>G	c.(343-345)ATT>ATG	p.I115M	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Missense_Mutation_p.I115M	NM_001549	NP_001540	O14879	IFIT3_HUMAN	interferon-induced protein with	115	TPR 2.				type I interferon-mediated signaling pathway		protein binding			central_nervous_system(1)	1						ATGCTCAGATTTATGTAGATA	0.423													G	91098757	T	G	91098757	3	3	33	1	0	0	0	0	1	0	0	0	7524	1829	64	5	360	5	IFIT3	10	91098757	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	5097625	91098757	44435990	204	33628											
SORCS1	114815	broad.mit.edu	37	chr10	108459101	108459101	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcattctggttccattcTtggaccgctgcgaacacctg	10	12	3	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr10:108459101T>G	uc001kym.2	-	9	1292	c.1284A>C	c.(1282-1284)CAA>CAC	p.Q428H	SORCS1_uc001kyl.2_Missense_Mutation_p.Q428H|SORCS1_uc009xxs.2_Missense_Mutation_p.Q428H|SORCS1_uc001kyn.1_Missense_Mutation_p.Q428H|SORCS1_uc001kyo.2_Missense_Mutation_p.Q428H	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	428	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GGTTCCATTCTTGGACCGCTG	0.483													G	108459101	T	G	108459101	3	3	33	1	0	0	0	0	1	0	0	0	14930	1606	56	5	2528	5	SORCS1	10	108459101	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	17360344	108459101	27075646	205	33629											
GFRA1	2674	broad.mit.edu	37	chr10	117856235	117856235	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagctgctgacagaccttgActctggctggcagttggtaa	12	10	1	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr10:117856235A>G	uc001lcj.2	-	7	1509	c.811T>C	c.(811-813)TCA>CCA	p.S271P	GFRA1_uc001lci.2_Missense_Mutation_p.S266P|GFRA1_uc009xyr.2_Missense_Mutation_p.S266P	NM_005264	NP_005255	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1 isoform a	271	3.				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			ovary(1)|pancreas(1)	2		Lung NSC(174;0.21)		all cancers(201;0.0337)		ACAGACCTTGACTCTGGCTGG	0.502													G	117856235	A	G	117856235	3	3	33	1	0	0	0	0	1	0	0	0	6347	275	10	3	606	3	GFRA1	10	117856235	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	9397134	117856235	17678512	206	33630											
C10orf46	143384	broad.mit.edu	37	chr10	120467071	120467071	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtccaagagctatattaaatCtttcaatatagagatctgga	7	6	3	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr10:120467071C>A	uc001lds.1	-	4	1110	c.626G>T	c.(625-627)AGA>ATA	p.R209I	C10orf46_uc010qst.1_RNA	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN	chromosome 10 open reading frame 46	209					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding				0		Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0131)		TATATTAAATCTTTCAATATA	0.408													A	120467071	C	A	120467071	3	1	33	1	0	0	0	0	1	0	0	0	1604	913	32	5	507	5	C10orf46	10	120467071	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	2610836	120467071	15067676	207	33631											
HTRA1	5654	broad.mit.edu	37	chr10	124273733	124273733	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcaaggaaaacgacgtcaTaatcagcatcaatggacagt	8	9	4	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr10:124273733T>C	uc001lgj.2	+	9	1429	c.1301T>C	c.(1300-1302)ATA>ACA	p.I434T		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1 precursor	434	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AACGACGTCATAATCAGCATC	0.483													C	124273733	T	C	124273733	3	2	33	1	0	0	0	0	1	0	0	0	7453	1406	49	3	1335	3	HTRA1	10	124273733	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	3806662	124273733	11261014	208	33632											
CPXM2	119587	broad.mit.edu	37	chr10	125526505	125526505	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccgtggcattttccgacAgaaaccactcagggattgca	9	12	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr10:125526505A>G	uc001lhk.1	-	10	1788	c.1463T>C	c.(1462-1464)CTG>CCG	p.L488P	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	488					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ATTTTCCGACAGAAACCACTC	0.458													G	125526505	A	G	125526505	3	3	33	1	0	0	0	0	1	0	0	0	3838	188	7	3	827	3	CPXM2	10	125526505	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	1252772	125526505	10008242	209	33633											
OR51A7	119687	broad.mit.edu	37	chr11	4928674	4928674	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggactggaacatgcccacatTtggttctccatccccatttg	8	13	1	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr11:4928674T>G	uc010qyq.1	+	1	75	c.75T>G	c.(73-75)ATT>ATG	p.I25M		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A,	25	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGCCCACATTTGGTTCTCCA	0.473													G	4928674	T	G	4928674	3	3	33	1	0	0	0	0	1	0	0	0	11088	1829	64	5	77	5	OR51A7	11	4928674	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08		4928674	130077842	210	33634											
LUZP2	338645	broad.mit.edu	37	chr11	25004695	25004695	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacagatgaaagcaatgaaAgagactgtgcagctctgctt	10	8	2	4			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr11:25004695A>C	uc001mqs.2	+	9	855	c.621A>C	c.(619-621)AAA>AAC	p.K207N	LUZP2_uc009yif.2_Missense_Mutation_p.K121N|LUZP2_uc009yig.2_Missense_Mutation_p.K165N	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2 precursor	207	Potential.					extracellular region				ovary(1)|skin(1)	2						AAGCAATGAAAGAGACTGTGC	0.418													C	25004695	A	C	25004695	3	2	33	1	0	0	0	0	1	0	0	0	9087	69	3	5	655	5	LUZP2	11	25004695	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	20076021	25004695	110001821	211	33635											
TTC17	55761	broad.mit.edu	37	chr11	43425686	43425686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggggcagggactctgatGcatatagggtaagttaatag	14	4	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr11:43425686G>A	uc001mxi.2	+	11	1485	c.1471G>A	c.(1471-1473)GCA>ACA	p.A491T	TTC17_uc001mxh.2_Missense_Mutation_p.A491T|TTC17_uc010rfj.1_Missense_Mutation_p.A434T|TTC17_uc001mxj.2_Missense_Mutation_p.A261T	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	491							binding			ovary(5)	5						GGACTCTGATGCATATAGGGT	0.428													A	43425686	G	A	43425686	3	1	33	1	0	0	0	0	1	0	0	0	16681	1319	46	2	1513	2	TTC17	11	43425686	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	18420991	43425686	91580830	212	33636											
CKAP5	9793	broad.mit.edu	37	chr11	46831385	46831385	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgagtaggtctaggagcacTtgttggcagtttgacccatt	12	8	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr11:46831385T>C	uc001ndi.1	-	6	780	c.670A>G	c.(670-672)AGT>GGT	p.S224G	CKAP5_uc009ylg.1_Missense_Mutation_p.S110G|CKAP5_uc001ndj.1_Missense_Mutation_p.S224G	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	224					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						CTAGGAGCACTTGTTGGCAGT	0.388													C	46831385	T	C	46831385	3	2	33	1	0	0	0	0	1	0	0	0	3445	1609	56	3	5584	3	CKAP5	11	46831385	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	3405699	46831385	88175131	213	33637											
OR4A5	81318	broad.mit.edu	37	chr11	51412114	51412114	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaatagctggcccatgcaAccttggaaggaaatagtctt	9	8	1	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr11:51412114A>C	uc001nhi.1	-	1	282	c.282T>G	c.(280-282)GGT>GGG	p.G94G		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				GGCCCATGCAACCTTGGAAGG	0.448													C	51412114	A	C	51412114	2	2	33	1	0	0	0	0	0	0	0	1	11043	30	2	5		5	OR4A5	11	51412114	Silent	SNP	A	TCGA-BR-6458-01A-11D-1800-08	4580729	51412114	83594402	214	33638											
OR5L1	219437	broad.mit.edu	37	chr11	55579495	55579495	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgatctacctcctgtcTtaagtcttgcttgctctgat	7	11	5	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr11:55579495T>G	uc001nhw.1	+	1	553	c.553T>G	c.(553-555)TTA>GTA	p.L185V		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	185	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)				ACCTCCTGTCTTAAGTCTTGC	0.433													G	55579495	T	G	55579495	3	3	33	1	0	0	0	0	1	0	0	0	11170	1606	56	5	555	5	OR5L1	11	55579495	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	4167381	55579495	79427021	215	33639											
OR5T1	390155	broad.mit.edu	37	chr11	56043468	56043468	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagatgtttcttgcttgtacTtttggaaccacagaatgctt	8	8	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr11:56043468T>G	uc001nio.1	+	1	354	c.354T>G	c.(352-354)ACT>ACG	p.T118T		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	118	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					TTGCTTGTACTTTTGGAACCA	0.403													G	56043468	T	G	56043468	2	3	33	1	0	0	0	0	0	0	0	1	11181	1596	56	5		5	OR5T1	11	56043468	Silent	SNP	T	TCGA-BR-6458-01A-11D-1800-08	463973	56043468	78963048	216	33640											
OR8H1	219469	broad.mit.edu	37	chr11	56058069	56058069	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctcatccaaaccacattgAcaaaggagttgataaagcta	7	9	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr11:56058069A>C	uc010rje.1	-	1	470	c.470T>G	c.(469-471)GTC>GGC	p.V157G		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	157	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					AACCACATTGACAAAGGAGTT	0.458													C	56058069	A	C	56058069	3	2	33	1	0	0	0	0	1	0	0	0	11237	275	10	5	467	5	OR8H1	11	56058069	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	14601	56058069	78948447	217	33641											
OR5B2	390190	broad.mit.edu	37	chr11	58189836	58189836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgccttctcaacactttcTtgaatgcattctggacttct	5	11	4	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr11:58189836T>C	uc010rkg.1	-	1	899	c.899A>G	c.(898-900)AAG>AGG	p.K300R		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CAACACTTTCTTGAATGCATT	0.393													C	58189836	T	C	58189836	3	2	33	1	0	0	0	0	1	0	0	0	11150	1609	56	3	34	3	OR5B2	11	58189836	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	2131767	58189836	76816680	218	33642											
DTX4	23220	broad.mit.edu	37	chr11	58962713	58962713	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtccaacctgcaagacCatttatggggtgaagacagg	12	9	0	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr11:58962713C>T	uc001nns.2	+	7	1664	c.1407C>T	c.(1405-1407)ACC>ACT	p.T469T	DTX4_uc001nnr.2_Silent_p.T363T	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	469					Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)				CCTGCAAGACCATTTATGGGG	0.547													T	58962713	C	T	58962713	2	4	33	1	0	0	0	0	0	0	0	1	4797	581	21	4		4	DTX4	11	58962713	Silent	SNP	C	TCGA-BR-6458-01A-11D-1800-08	772877	58962713	76043803	219	33643											
PGA5	5222	broad.mit.edu	37	chr11	61017153	61017153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctcagcatcaccatgaaCggagagaccatcgcctgtgc	9	15	2	2	rs139579497	byFrequency	TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr11:61017153C>T	uc001nqz.2	+	7	816	c.786C>T	c.(784-786)AAC>AAT	p.N262N		NM_014224	NP_055039	P00790	PEPA_HUMAN	pepsinogen 5, group I precursor	262					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			skin(1)	1						TCACCATGAACGGAGAGACCA	0.587													T	61017153	C	T	61017153	2	4	33	1	0	0	0	0	0	0	0	1	11772	535	19	1		1	PGA5	11	61017153	Silent	SNP	C	TCGA-BR-6458-01A-11D-1800-08	2054440	61017153	73989363	220	33644											
CCDC88B	283234	broad.mit.edu	37	chr11	64119683	64119683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggaggtgcgggcggcaCggcagtcccaggaggagacc	20	10	0	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr11:64119683C>T	uc001nzy.2	+	19	3225	c.3181C>T	c.(3181-3183)CGG>TGG	p.R1061W	CCDC88B_uc009ypo.1_Missense_Mutation_p.R1058W|CCDC88B_uc001oaa.2_Missense_Mutation_p.R213W|CCDC88B_uc001oab.1_5'Flank|CCDC88B_uc001oac.2_5'Flank	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88	1061	Potential.				microtubule cytoskeleton organization	cytoplasm	microtubule binding			ovary(3)|skin(1)	4						GCGGGCGGCACGGCAGTCCCA	0.692													T	64119683	C	T	64119683	3	4	33	1	0	0	0	0	1	0	0	0	2864	527	19	1	3255	1	CCDC88B	11	64119683	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	3102530	64119683	70886833	221	33645											
MRPL49	740	broad.mit.edu	37	chr11	64893044	64893044	+	Frame_Shift_Del	DEL	G	G	-													ggacatcacgcatggcaaccGgcagatgactgtgatccgga							TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr11:64893043_64893043CG>C	uc001oda.2	+	2	416	c.313_313CG>C	c.(313-315)cggfs	p.R105fs	MRPL49_uc021qle.1_Non-coding_Transcript|MRPL49_uc021qlf.1_Frame_Shift_Del_p.R43fs	NM_004927	NP_004918	Q13405	RM49_HUMAN	Homo sapiens mitochondrial ribosomal protein L49 (MRPL49), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	105					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|ovary(1)	2						GCATGGCAACCGGCAGATGAC	0.582													-	64893044	G	-	64893044	7	5	33	1	0	1	0	1	0	0	0	0	9813	1116	39	0	324	0	MRPL49	11	64893044	Frame_Shift_Del	DEL	G	TCGA-BR-6458-01A-11D-1800-08	773361	64893044	70113472	222	33646											
PRSS23	11098	broad.mit.edu	37	chr11	86519692	86519692	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagaagtgggagcgaaaaaTtattggcattttttcagggc	13	5	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr11:86519692T>G	uc001pcb.2	+	2	1223	c.1007T>G	c.(1006-1008)ATT>AGT	p.I336S	PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.I304S	NM_007173	NP_009104	O95084	PRS23_HUMAN	protease, serine, 23 precursor	336					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAGCGAAAAATTATTGGCATT	0.522													G	86519692	T	G	86519692	3	3	33	1	0	0	0	0	1	0	0	0	12620	1493	52	5	1009	5	PRSS23	11	86519692	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	21626648	86519692	48486824	223	33647											
GRM5	2915	broad.mit.edu	37	chr11	88780736	88780736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgctctagggccacagccGaatgccagcaggagtccctt	11	14	2	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr11:88780736G>A	uc001pcq.2	-	1	505	c.305C>T	c.(304-306)TCG>TTG	p.S102L	GRM5_uc009yvm.2_Missense_Mutation_p.S102L|GRM5_uc009yvn.1_Missense_Mutation_p.S102L	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	102	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GGCCACAGCCGAATGCCAGCA	0.527													A	88780736	G	A	88780736	3	1	33	1	0	0	0	0	1	0	0	0	6800	1059	37	1	3369	1	GRM5	11	88780736	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	2261044	88780736	46225780	224	33648											
CCDC67	159989	broad.mit.edu	37	chr11	93170867	93170867	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aataaatactccaagctaaaAcaaaatagacacatatgagc	4	8	0	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr11:93170867A>C	uc001pdq.2	+	14	1897	c.1797A>C	c.(1795-1797)AAA>AAC	p.K599N		NM_181645	NP_857596	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	599	Potential.									ovary(1)	1		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CCAAGCTAAAACAAAATAGAC	0.338													C	93170867	A	C	93170867	3	2	33	1	0	0	0	0	1	0	0	0	2839	40	2	5	1847	5	CCDC67	11	93170867	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	4390131	93170867	41835649	225	33649											
KIAA1377	57562	broad.mit.edu	37	chr11	101815057	101815057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaaattagagaacaaataCttcaacaaagaaaacagaag	5	7	1	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr11:101815057C>T	uc001pgm.2	+	3	580	c.310C>T	c.(310-312)CTT>TTT	p.L104F	KIAA1377_uc001pgn.2_Missense_Mutation_p.L60F|KIAA1377_uc009yxa.1_5'UTR	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	104	Potential.						protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AGAACAAATACTTCAACAAAG	0.373													T	101815057	C	T	101815057	3	4	33	1	0	0	0	0	1	0	0	0	8227	565	20	4	320	4	KIAA1377	11	101815057	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	8644190	101815057	33191459	226	33650											
GUCY1A2	2977	broad.mit.edu	37	chr11	106680788	106680788	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcattcagcatgctgattacTtgcatgggagtacactgggc	11	9	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr11:106680788T>G	uc001pjg.1	-	5	2013	c.1623A>C	c.(1621-1623)CAA>CAC	p.Q541H	GUCY1A2_uc010rvo.1_Missense_Mutation_p.Q562H|GUCY1A2_uc009yxn.1_Missense_Mutation_p.Q541H	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	541	Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TGCTGATTACTTGCATGGGAG	0.413													G	106680788	T	G	106680788	3	3	33	1	0	0	0	0	1	0	0	0	6893	1606	56	5	591	5	GUCY1A2	11	106680788	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	4865731	106680788	28325728	227	33651											
USP28	57646	broad.mit.edu	37	chr11	113698007	113698007	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttattgtgaattttctctgGctgcccaagggactgattaa	9	8	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr11:113698007G>C	uc001poh.2	-	11	1168	c.1135C>G	c.(1135-1137)CCA>GCA	p.P379A	USP28_uc001pog.2_Missense_Mutation_p.P87A|USP28_uc010rwy.1_Missense_Mutation_p.P254A|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.P379A	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	379					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ATTTTCTCTGGCTGCCCAAGG	0.393													C	113698007	G	C	113698007	3	2	33	1	0	0	0	0	1	0	0	0	17055	1203	42	5	2158	5	USP28	11	113698007	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	7017219	113698007	21308509	228	33652											
ZBTB16	7704	broad.mit.edu	37	chr11	113934741	113934741	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcaccctggggtggctgAggtgaagacggagatgatgc	19	8	0	5			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr11:113934741A>G	uc001pop.2	+	2	983	c.719A>G	c.(718-720)GAG>GGG	p.E240G	ZBTB16_uc001poo.1_Missense_Mutation_p.E240G|ZBTB16_uc001poq.2_Missense_Mutation_p.E240G	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	240					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GGGGTGGCTGAGGTGAAGACG	0.642													G	113934741	A	G	113934741	3	3	33	1	0	0	0	0	1	0	0	0	17523	304	11	3	721	3	ZBTB16	11	113934741	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	236734	113934741	21071775	229	33653											
FAM55A	120400	broad.mit.edu	37	chr11	114400955	114400955	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctctctattccgggtggTcatgtaggtcagagcctcac	10	12	4	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr11:114400955T>G	uc001ppa.2	-	3	766	c.349A>C	c.(349-351)ACC>CCC	p.T117P	FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.T259P	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	259						extracellular region					0		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		TTCCGGGTGGTCATGTAGGTC	0.443													G	114400955	T	G	114400955	3	3	33	1	0	0	0	0	1	0	0	0	5584	1667	58	5	884	5	FAM55A	11	114400955	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	466214	114400955	20605561	230	33654											
C11orf63	79864	broad.mit.edu	37	chr11	122830032	122830032	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcatcaaaggaacaaaaaaAtccaacctatgctgggaaag	8	8	1	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr11:122830032A>C	uc001pym.2	+	9	2513	c.2216A>C	c.(2215-2217)AAT>ACT	p.N739T		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	739										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GAACAAAAAAATCCAACCTAT	0.408													C	122830032	A	C	122830032	3	2	33	1	0	0	0	0	1	0	0	0	1654	101	4	5	2310	5	C11orf63	11	122830032	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	8429077	122830032	12176484	231	33655											
TMEM225	338661	broad.mit.edu	37	chr11	123755343	123755343	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaccactttcaggtcaTctgttggaaagcaaaagctg	9	10	3	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr11:123755343T>C	uc001pzi.2	-	2	390	c.182A>G	c.(181-183)GAT>GGT	p.D61G		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	transmembrane protein 225	61						integral to membrane				upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	3						TTTCAGGTCATCTGTTGGAAA	0.428													C	123755343	T	C	123755343	3	2	33	1	0	0	0	0	1	0	0	0	16144	1449	50	3	507	3	TMEM225	11	123755343	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	925311	123755343	11251173	232	33656											
ROBO4	54538	broad.mit.edu	37	chr11	124766979	124766979	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagaagggtcccatcaggCaggaggtggtgtgggtctgg	19	7	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr11:124766979C>A	uc001qbg.2	-	2	389	c.249G>T	c.(247-249)CTG>CTT	p.L83L	ROBO4_uc010sas.1_Intron|ROBO4_uc001qbh.2_Intron|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	83	Ig-like C2-type 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TCCCATCAGGCAGGAGGTGGT	0.657													A	124766979	C	A	124766979	2	1	33	1	0	0	0	0	0	0	0	1	13516	697	25	5		5	ROBO4	11	124766979	Silent	SNP	C	TCGA-BR-6458-01A-11D-1800-08	1011636	124766979	10239537	233	33657											
TEAD4	7004	broad.mit.edu	37	chr12	3131176	3131176	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgccttttttcttgtgaAgttctgggtaagcctgtgat	10	7	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr12:3131176A>C	uc010sej.1	+	10	1164	c.887A>C	c.(886-888)AAG>ACG	p.K296T	TEAD4_uc010sek.1_Missense_Mutation_p.K253T|TEAD4_uc001qln.2_Missense_Mutation_p.K168T	NM_003213	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4 isoform 1	297				K->A: Important loss of interaction with YAP1 and complete loss of transforming ability.	hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			TTTCTTGTGAAGTTCTGGGTA	0.537													C	3131176	A	C	3131176	3	2	33	1	0	0	0	0	1	0	0	0	15738	72	3	5	920	5	TEAD4	12	3131176	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08		3131176	130720719	234	33658											
A2ML1	144568	broad.mit.edu	37	chr12	9004872	9004872	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcagattctcagacctccAgttgtctctgtgctgatgac	11	11	2	4			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr12:9004872A>C	uc001quz.3	+	20	2628	c.2530A>C	c.(2530-2532)AGT>CGT	p.S844R	A2ML1_uc001qva.1_Missense_Mutation_p.S424R|A2ML1_uc010sgm.1_Missense_Mutation_p.S344R	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	688						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						TCAGACCTCCAGTTGTCTCTG	0.493													C	9004872	A	C	9004872	3	2	33	1	0	0	0	0	1	0	0	0	5	188	7	5	2608	5	A2ML1	12	9004872	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	5873696	9004872	124847023	235	33659											
KLRF1	51348	broad.mit.edu	37	chr12	9995000	9995000	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttgaaaatgacatggacTtgggtggatggttctccaat	11	7	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr12:9995000T>G	uc010sgw.1	+	6	619	c.555T>G	c.(553-555)ACT>ACG	p.T185T	KLRF1_uc009zgw.2_Silent_p.T136T|KLRF1_uc009zgx.2_RNA|KLRF1_uc001qwm.2_RNA|KLRF1_uc009zgy.2_RNA|KLRF1_uc009zgz.2_Intron|KLRF1_uc009zha.2_Intron	NM_016523	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F,	186	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			large_intestine(1)	1						TGACATGGACTTGGGTGGATG	0.373													G	9995000	T	G	9995000	2	3	33	1	0	0	0	0	0	0	0	1	8420	1596	56	5		5	KLRF1	12	9995000	Silent	SNP	T	TCGA-BR-6458-01A-11D-1800-08	990128	9995000	123856895	236	33660											
CLEC1B	51266	broad.mit.edu	37	chr12	10149597	10149597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggggctgcatttatgacCttctggagaaaccaagcaca	10	10	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr12:10149597C>T	uc001qwu.2	-	4	486	c.286G>A	c.(286-288)GGT>AGT	p.G96S	CLEC1B_uc009zhd.2_Missense_Mutation_p.G63S	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B isoform	96	Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity				0						CATTTATGACCTTCTGGAGAA	0.408													T	10149597	C	T	10149597	3	4	33	1	0	0	0	0	1	0	0	0	3506	681	24	4	415	4	CLEC1B	12	10149597	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	154597	10149597	123702298	237	33661											
ALG10B	144245	broad.mit.edu	37	chr12	38714574	38714574	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacatggaattctgtttttGgtggttaccttagtctctgt	9	6	2	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr12:38714574G>A	uc001rln.3	+	3	1120	c.981G>A	c.(979-981)TTG>TTA	p.L327L	ALG10B_uc001rlo.3_Silent_p.L297L|ALG10B_uc010skk.1_Silent_p.L267L	NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	asparagine-linked glycosylation 10 homolog B	327	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			ovary(2)|skin(1)	3	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTCTGTTTTTGGTGGTTACCT	0.318													A	38714574	G	A	38714574	2	1	33	1	0	0	0	0	0	0	0	1	512	1339	47	4		4	ALG10B	12	38714574	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08	28564977	38714574	95137321	238	33662											
CPNE8	144402	broad.mit.edu	37	chr12	39233729	39233729	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaacttacatgtttggataAgttggggctctttgaatcaa	10	5	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr12:39233729A>T	uc001rls.1	-	5	403	c.319T>A	c.(319-321)TTA>ATA	p.L107I		NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	copine VIII	107	C2 1.									pancreas(1)	1	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TGTTTGGATAAGTTGGGGCTC	0.239													T	39233729	A	T	39233729	3	4	33	1	0	0	0	0	1	0	0	0	3818	69	3	5	1439	5	CPNE8	12	39233729	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	519155	39233729	94618166	239	33663											
ADAMTS20	80070	broad.mit.edu	37	chr12	43840490	43840490	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctatcttggcactggagTttaacacgtgatcacaacca	8	10	3	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr12:43840490T>G	uc010skx.1	-	15	2105	c.2105A>C	c.(2104-2106)AAC>ACC	p.N702T		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	702	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GGCACTGGAGTTTAACACGTG	0.318													G	43840490	T	G	43840490	3	3	33	1	0	0	0	0	1	0	0	0	266	1725	60	5	3726	5	ADAMTS20	12	43840490	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	4606761	43840490	90011405	240	33664											
LIMA1	51474	broad.mit.edu	37	chr12	50616015	50616015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgatgtggggatatcgaCcctgaacgagggcttcagga	14	9	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr12:50616015C>T	uc001rwj.3	-	4	593	c.419G>A	c.(418-420)GGT>GAT	p.G140D	LIMA1_uc001rwh.3_5'UTR|LIMA1_uc001rwi.3_5'UTR|LIMA1_uc001rwk.3_Missense_Mutation_p.G140D|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1 isoform b	140					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			ovary(1)	1						GGGATATCGACCCTGAACGAG	0.473													T	50616015	C	T	50616015	3	4	33	1	0	0	0	0	1	0	0	0	8796	507	18	4	1895	4	LIMA1	12	50616015	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	6775525	50616015	83235880	241	33665											
CALCOCO1	57658	broad.mit.edu	37	chr12	54108389	54108389	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatgggtgctcacctgtttcTcctcctgtaactgctccttt	7	13	2	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr12:54108389T>A	uc001sef.2	-	11	1619	c.1475A>T	c.(1474-1476)GAG>GTG	p.E492V	CALCOCO1_uc001see.2_5'UTR|CALCOCO1_uc010som.1_Missense_Mutation_p.E407V|CALCOCO1_uc010son.1_Missense_Mutation_p.E369V|CALCOCO1_uc001seh.2_Missense_Mutation_p.E492V|CALCOCO1_uc009znd.2_Missense_Mutation_p.E492V|CALCOCO1_uc001seg.2_Missense_Mutation_p.E317V|CALCOCO1_uc010soo.1_Missense_Mutation_p.E485V	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	coiled-coil transcriptional coactivator isoform	492	Potential.				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			ovary(1)	1						CACCTGTTTCTCCTCCTGTAA	0.527													A	54108389	T	A	54108389	3	1	33	1	0	0	0	0	1	0	0	0	2577	1551	54	5	620	5	CALCOCO1	12	54108389	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	3492374	54108389	79743506	242	33666											
KIAA0748	9840	broad.mit.edu	37	chr12	55356615	55356615	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaagacacatggatagggaGaagtgggcaacttcttaccc	12	8	1	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr12:55356615G>A	uc001sgn.3	-	9	1177	c.1067C>T	c.(1066-1068)TCT>TTT	p.S356F	KIAA0748_uc001sgl.3_Missense_Mutation_p.S218F|KIAA0748_uc001sgm.3_Missense_Mutation_p.S103F|KIAA0748_uc010spb.1_Missense_Mutation_p.S103F|KIAA0748_uc010spc.1_Missense_Mutation_p.S218F|KIAA0748_uc010spd.1_Missense_Mutation_p.S356F|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	356										ovary(1)|central_nervous_system(1)	2						TGGATAGGGAGAAGTGGGCAA	0.517													A	55356615	G	A	55356615	3	1	33	1	0	0	0	0	1	0	0	0	8190	942	33	4	506	4	KIAA0748	12	55356615	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	1248226	55356615	78495280	243	33667											
IKZF4	64375	broad.mit.edu	37	chr12	56421645	56421645	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcgccacatcaagctgcactCtggggagaagccctttaaat	10	12	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr12:56421645C>G	uc001sjb.1	+	6	788	c.629C>G	c.(628-630)TCT>TGT	p.S210C	IKZF4_uc010sqa.1_Missense_Mutation_p.S163C|IKZF4_uc001sjc.1_Missense_Mutation_p.S210C|IKZF4_uc001sjd.1_Missense_Mutation_p.S108C|IKZF4_uc009zoi.1_Missense_Mutation_p.S165C|IKZF4_uc001sje.1_Missense_Mutation_p.S169C	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	zinc finger protein, subfamily 1A, 4	210					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			AAGCTGCACTCTGGGGAGAAG	0.562													G	56421645	C	G	56421645	3	3	33	1	0	0	0	0	1	0	0	0	7617	913	32	5	647	5	IKZF4	12	56421645	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	1065030	56421645	77430250	244	33668											
TRHDE	29953	broad.mit.edu	37	chr12	73056901	73056901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacgagctgtggaaactgtcGaagccaatgtgcgctggaaa	13	9	0	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr12:73056901G>A	uc001sxa.2	+	19	3031	c.3001G>A	c.(3001-3003)GAA>AAA	p.E1001K		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1001	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						GGAAACTGTCGAAGCCAATGT	0.373													A	73056901	G	A	73056901	3	1	33	1	0	0	0	0	1	0	0	0	16476	1059	37	1	3075	1	TRHDE	12	73056901	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	16635256	73056901	60794994	245	33669											
OSBPL8	114882	broad.mit.edu	37	chr12	76784288	76784288	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgatatatgagtcatcttgtCtttctgatgtatctgtgtca	8	7	6	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr12:76784288C>T	uc001sye.1	-	11	1559	c.1079G>A	c.(1078-1080)AGA>AAA	p.R360K	OSBPL8_uc001syf.1_Missense_Mutation_p.R318K|OSBPL8_uc001syg.1_Missense_Mutation_p.R318K|OSBPL8_uc001syh.1_Missense_Mutation_p.R335K	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	360					lipid transport		lipid binding			ovary(1)	1						GTCATCTTGTCTTTCTGATGT	0.388													T	76784288	C	T	76784288	3	4	33	1	0	0	0	0	1	0	0	0	11283	913	32	4	1646	4	OSBPL8	12	76784288	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	3727387	76784288	57067607	246	33670											
NAV3	89795	broad.mit.edu	37	chr12	78444768	78444768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtataccacgcctctccGtcgagctgctgtctctaggc	9	15	2	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr12:78444768G>A	uc001syp.2	+	11	2530	c.2357G>A	c.(2356-2358)CGT>CAT	p.R786H	NAV3_uc001syo.2_Missense_Mutation_p.R786H|NAV3_uc010sub.1_Missense_Mutation_p.R286H	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	786						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						ACGCCTCTCCGTCGAGCTGCT	0.557										HNSCC(70;0.22)			A	78444768	G	A	78444768	3	1	33	1	0	0	0	0	1	0	0	0	10185	1145	40	1	2399	1	NAV3	12	78444768	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	1660480	78444768	55407127	247	33671											
NAV3	89795	broad.mit.edu	37	chr12	78573437	78573437	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcatcatcttgatcagaTccgggaagccatgaaccgga	10	11	4	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr12:78573437T>G	uc001syp.2	+	29	5665	c.5492T>G	c.(5491-5493)ATC>AGC	p.I1831S	NAV3_uc001syo.2_Missense_Mutation_p.I1809S|NAV3_uc010sub.1_Missense_Mutation_p.I1288S|NAV3_uc009zsf.2_Missense_Mutation_p.I640S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1831	Potential.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CTTGATCAGATCCGGGAAGCC	0.433										HNSCC(70;0.22)			G	78573437	T	G	78573437	3	3	33	1	0	0	0	0	1	0	0	0	10185	1435	50	5	5536	5	NAV3	12	78573437	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	128669	78573437	55278458	248	33672											
PPFIA2	8499	broad.mit.edu	37	chr12	81719631	81719631	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggactcctgagctgcagctTcagtctccataaagcctcct	9	14	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr12:81719631T>G	uc001szo.1	-	22	2728	c.2567A>C	c.(2566-2568)GAA>GCA	p.E856A	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	782										ovary(3)|lung(2)|pancreas(1)	6						AGCTGCAGCTTCAGTCTCCAT	0.423													G	81719631	T	G	81719631	3	3	33	1	0	0	0	0	1	0	0	0	12310	1783	62	5	1250	5	PPFIA2	12	81719631	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	3146194	81719631	52132264	249	33673											
FGD6	55785	broad.mit.edu	37	chr12	95566467	95566467	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgatgatttcctcctcatcaGagggaaggtcaccaagacca	9	11	3	4			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr12:95566467G>C	uc001tdp.3	-	3	2719	c.2495C>G	c.(2494-2496)TCT>TGT	p.S832C	FGD6_uc009zsx.2_5'UTR	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	832				S -> P (in Ref. 3; CAD98096).	actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|breast(1)	3						CTCCTCATCAGAGGGAAGGTC	0.433													C	95566467	G	C	95566467	3	2	33	1	0	0	0	0	1	0	0	0	5837	942	33	5	1873	5	FGD6	12	95566467	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	13846836	95566467	38285428	250	33674											
SCYL2	55681	broad.mit.edu	37	chr12	100685289	100685289	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttttatttaggaagtggcAgtttttgtctttgataaaaa	8	3	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr12:100685289A>C	uc001thn.2	+	3	236	c.186A>C	c.(184-186)GCA>GCC	p.A62A	SCYL2_uc009ztw.1_5'UTR|SCYL2_uc001thm.1_Silent_p.A62A	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 protein	62	Protein kinase.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			lung(3)|ovary(2)|skin(1)	6						AGGAAGTGGCAGTTTTTGTCT	0.279													C	100685289	A	C	100685289	2	2	33	1	0	0	0	0	0	0	0	1	13948	175	7	5		5	SCYL2	12	100685289	Silent	SNP	A	TCGA-BR-6458-01A-11D-1800-08	5118822	100685289	33166606	251	33675											
WSCD2	9671	broad.mit.edu	37	chr12	108634185	108634185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatcaagacgcacgaaagCggccagaaagagatcgaggc	13	10	1	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr12:108634185C>T	uc001tms.2	+	8	1953	c.1209C>T	c.(1207-1209)AGC>AGT	p.S403S	WSCD2_uc001tmt.2_Silent_p.S403S|WSCD2_uc001tmu.2_Silent_p.S151S	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	403						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						CGCACGAAAGCGGCCAGAAAG	0.607													T	108634185	C	T	108634185	2	4	33	1	0	0	0	0	0	0	0	1	17404	767	27	1		1	WSCD2	12	108634185	Silent	SNP	C	TCGA-BR-6458-01A-11D-1800-08	7948896	108634185	25217710	252	33676											
NAA25	80018	broad.mit.edu	37	chr12	112471065	112471065	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaagtgtcttctaaaataAgttcttcaagtttaagtgca	8	5	4	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr12:112471065A>G	uc001ttm.2	-	23	2788	c.2768T>C	c.(2767-2769)CTT>CCT	p.L923P	NAA25_uc001ttn.3_RNA	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	923						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						TTCTAAAATAAGTTCTTCAAG	0.373													G	112471065	A	G	112471065	3	3	33	1	0	0	0	0	1	0	0	0	10121	72	3	3	158	3	NAA25	12	112471065	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	3836880	112471065	21380830	253	33677											
DNAH10	196385	broad.mit.edu	37	chr12	124414973	124414973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtatggaggacgggccatcGacagctttgatcgccgcatc	13	11	0	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr12:124414973G>A	uc001uft.3	+	72	12308	c.12283G>A	c.(12283-12285)GAC>AAC	p.D4095N	DNAH10_uc001ufu.3_Missense_Mutation_p.D8N	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4095	TPR 5.				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACGGGCCATCGACAGCTTTGA	0.557													A	124414973	G	A	124414973	3	1	33	1	0	0	0	0	1	0	0	0	4598	1058	37	1	12569	1	DNAH10	12	124414973	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	11943908	124414973	9436922	254	33678											
SACS	26278	broad.mit.edu	37	chr13	23908520	23908520	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtcgttttgcatcaaaAgtttgcaaaacactgtccag	9	8	1	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr13:23908520A>C	uc001uon.2	-	10	10084	c.9495T>G	c.(9493-9495)ACT>ACG	p.T3165T	SACS_uc001uoo.2_Silent_p.T3018T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3165					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTGCATCAAAAGTTTGCAAAA	0.318													C	23908520	A	C	23908520	2	2	33	1	0	0	0	0	0	0	0	1	13804	59	3	5		5	SACS	13	23908520	Silent	SNP	A	TCGA-BR-6458-01A-11D-1800-08		23908520	91261358	255	33679											
RNF17	56163	broad.mit.edu	37	chr13	25399903	25399903	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaatttggtaccgagcaaaAgttatcggtaggagaatgca	13	5	0	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr13:25399903A>C	uc001upr.2	+	16	2279	c.2238A>C	c.(2236-2238)AAA>AAC	p.K746N	RNF17_uc010tdd.1_Missense_Mutation_p.K605N|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.K746N|RNF17_uc001ups.2_Missense_Mutation_p.K685N	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	746	Tudor 1.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACCGAGCAAAAGTTATCGGTA	0.368													C	25399903	A	C	25399903	3	2	33	1	0	0	0	0	1	0	0	0	13461	69	3	5	2300	5	RNF17	13	25399903	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	1491383	25399903	89769975	256	33680											
SPG20	23111	broad.mit.edu	37	chr13	36888405	36888405	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcctcctgtagcttgcTtcgctatataaagtcccttg	7	13	0	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr13:36888405T>G	uc001uvn.2	-	7	1712	c.1442A>C	c.(1441-1443)AAG>ACG	p.K481T	SPG20_uc010ten.1_Missense_Mutation_p.K471T|SPG20_uc001uvm.2_Missense_Mutation_p.K481T|SPG20_uc001uvo.2_Missense_Mutation_p.K481T|SPG20_uc001uvq.2_Missense_Mutation_p.K481T	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	481					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TGTAGCTTGCTTCGCTATATA	0.393													G	36888405	T	G	36888405	3	3	33	1	0	0	0	0	1	0	0	0	15041	1609	56	5	574	5	SPG20	13	36888405	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	11488502	36888405	78281473	257	33681											
SUCLA2	8803	broad.mit.edu	37	chr13	48562750	48562750	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcgctcacagaccaatacttGattgcatattctgccctttt	5	12	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr13:48562750G>C	uc001vbs.2	-	4	517	c.460C>G	c.(460-462)CAA>GAA	p.Q154E	SUCLA2_uc010tgb.1_Missense_Mutation_p.Q94E|SUCLA2_uc010tgc.1_Missense_Mutation_p.Q20E|SUCLA2_uc010tgd.1_Missense_Mutation_p.Q94E|SUCLA2_uc001vbt.1_RNA|SUCLA2_uc001vbu.1_Missense_Mutation_p.Q154E	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	154	ATP-grasp.				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)	1		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	ACCAATACTTGATTGCATATT	0.353													C	48562750	G	C	48562750	3	2	33	1	0	0	0	0	1	0	0	0	15362	1299	45	5	963	5	SUCLA2	13	48562750	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	11674345	48562750	66607128	258	33682											
GPC5	2262	broad.mit.edu	37	chr13	92560224	92560224	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggttggaaatggaatcaaAgcccagtctggaaatcctga	12	7	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr13:92560224A>C	uc010tif.1	+	6	1680	c.1314A>C	c.(1312-1314)AAA>AAC	p.K438N		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	438						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATGGAATCAAAGCCCAGTCTG	0.393													C	92560224	A	C	92560224	3	2	33	1	0	0	0	0	1	0	0	0	6601	69	3	5	1336	5	GPC5	13	92560224	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	43997474	92560224	22609654	259	33683											
MYO16	23026	broad.mit.edu	37	chr13	109859011	109859011	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggccctgcaggaactcTtggactggaggagaaagctc	15	9	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr13:109859011T>G	uc001vqt.1	+	35	5530	c.5404T>G	c.(5404-5406)TTG>GTG	p.L1802V	MYO16_uc010agk.1_Missense_Mutation_p.L1824V	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1802					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCAGGAACTCTTGGACTGGAG	0.552													G	109859011	T	G	109859011	3	3	33	1	0	0	0	0	1	0	0	0	10064	1606	56	5	5538	5	MYO16	13	109859011	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	17298787	109859011	5310867	260	33684											
CHD8	57680	broad.mit.edu	37	chr14	21859686	21859686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacatctccagttcagccCggcgaggggcatcctcaccc	9	18	3	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr14:21859686C>T	uc001was.1	-	36	6258	c.6164G>A	c.(6163-6165)CGG>CAG	p.R2055Q	CHD8_uc001war.1_Missense_Mutation_p.R1951Q	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2334					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CAGTTCAGCCCGGCGAGGGGC	0.527													T	21859686	C	T	21859686	3	4	33	1	0	0	0	0	1	0	0	0	3331	652	23	1	756	1	CHD8	14	21859686	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08		21859686	85489854	261	33685											
SLC35F4	341880	broad.mit.edu	37	chr14	58063439	58063439	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acttgtgtgtagcgagcaagTgttgaatgtataagccacac	11	7	0	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr14:58063439T>G	uc001xdb.1	-	1	177	c.177A>C	c.(175-177)ACA>ACC	p.T59T	SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Intron	NM_001080455	NP_001073924			solute carrier family 35, member F4											ovary(2)	2						AGCGAGCAAGTGTTGAATGTA	0.378													G	58063439	T	G	58063439	2	3	33	1	0	0	0	0	0	0	0	1	14591	1683	59	5		5	SLC35F4	14	58063439	Silent	SNP	T	TCGA-BR-6458-01A-11D-1800-08	36203753	58063439	49286101	262	33686											
DACT1	51339	broad.mit.edu	37	chr14	59112838	59112838	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggccctgccccgccgcaggaGaacaaagttgtacagcccct	11	16	0	1	rs145184753		TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr14:59112838G>C	uc001xdw.2	+	4	1661	c.1497G>C	c.(1495-1497)GAG>GAC	p.E499D	DACT1_uc010trv.1_Missense_Mutation_p.E218D|DACT1_uc001xdx.2_Missense_Mutation_p.E462D|DACT1_uc010trw.1_Missense_Mutation_p.E218D	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	499					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						CGCCGCAGGAGAACAAAGTTG	0.607													C	59112838	G	C	59112838	3	2	33	1	0	0	0	0	1	0	0	0	4222	933	33	5	1511	5	DACT1	14	59112838	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	1049399	59112838	48236702	263	33687											
PRKCH	5583	broad.mit.edu	37	chr14	61789032	61789033	+	Frame_Shift_Ins	INS	-	-	T													aacccacgtacaacgaggagINSttttgcgctaacgtcaccga							TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr14:61789032_61789033insT	uc001xfn.2	+	1	518_519	c.213_214insT	c.(211-216)GAGTTTfs	p.E71fs	PRKCH_uc010tsa.1_Intron|uc001xfm.2_Intron	NM_006255	NP_006246	P24723	KPCL_HUMAN	protein kinase C, eta	71_72	C2.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		ACAACGAGGAGTTTTGCGCTAA	0.624													T	61789033	-	T	61789032	7	5	33	1	0	1	1	0	0	0	0	0	12513	1020	36	0	215	0	PRKCH	14	61789032	Frame_Shift_Ins	INS	-	TCGA-BR-6458-01A-11D-1800-08	2676194	61789032	45560508	264	33688	115	2									
PRKCH	5583	broad.mit.edu	37	chr14	61789033	61789034	+	Frame_Shift_Ins	INS	-	-	T													acccacgtacaacgaggagtINStttgcgctaacgtcaccgac							TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr14:61789032_61789033G>GT	uc001xfn.3	+	0	518_519	c.213_214G>GT	c.(211-216)gagtttfs	p.E71fs	PRKCH_uc010tsa.2_Intron|BC050301_uc001xfm.3_Intron	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	71	C2.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		ACAACGAGGAGTTTTGCGCTAA	0.624													T	61789034	-	T	61789033	7	5	33	1	0	1	1	0	0	0	0	0	12513	1725	60	0	216	0	PRKCH	14	61789033	Frame_Shift_Ins	INS	-	TCGA-BR-6458-01A-11D-1800-08	1	61789033	45560507	265	33689	115	2									
KCNH5	27133	broad.mit.edu	37	chr14	63416924	63416924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctatgtttccaaatcctatGgttgtaaggcttgtcatggt	10	7	1	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr14:63416924G>A	uc001xfx.2	-	7	1347	c.1296C>T	c.(1294-1296)ACC>ACT	p.T432T	KCNH5_uc001xfy.2_Silent_p.T432T|KCNH5_uc001xfz.1_Silent_p.T374T|KCNH5_uc001xga.2_Silent_p.T374T	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	432	Selectivity filter (By similarity).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CAAATCCTATGGTTGTAAGGC	0.418													A	63416924	G	A	63416924	2	1	33	1	0	0	0	0	0	0	0	1	8035	1335	47	4		4	KCNH5	14	63416924	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08	1627891	63416924	43932616	266	33690											
KCNK10	54207	broad.mit.edu	37	chr14	88707082	88707082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttccagcaaagaaaaagGcactgccgaggtcccagtgg	12	11	0	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr14:88707082G>A	uc001xwo.2	-	3	927	c.470C>T	c.(469-471)GCC>GTC	p.A157V	KCNK10_uc001xwm.2_Missense_Mutation_p.A162V|KCNK10_uc001xwn.2_Missense_Mutation_p.A162V	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	157					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						AAAGAAAAAGGCACTGCCGAG	0.478													A	88707082	G	A	88707082	3	1	33	1	0	0	0	0	1	0	0	0	8059	1203	42	2	1166	2	KCNK10	14	88707082	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	25290158	88707082	18642458	267	33691											
ATG2B	55102	broad.mit.edu	37	chr14	96777946	96777946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagccccatatccatcacaCgaacataatctaaaattttt	2	11	2	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr14:96777946C>T	uc001yfi.2	-	27	4288	c.3923G>A	c.(3922-3924)CGT>CAT	p.R1308H		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	1308										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATCCATCACACGAACATAATC	0.313													T	96777946	C	T	96777946	3	4	33	1	0	0	0	0	1	0	0	0	1094	536	19	1	2377	1	ATG2B	14	96777946	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	8070864	96777946	10571594	268	33692											
RASGRP1	10125	broad.mit.edu	37	chr15	38805039	38805039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggagctgcggcgtggggCggctgagaaccatcagttgt	17	10	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr15:38805039C>T	uc001zke.3	-	7	972	c.794G>A	c.(793-795)CGC>CAC	p.R265H	RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Missense_Mutation_p.R127H|RASGRP1_uc010bbg.2_Missense_Mutation_p.R127H|RASGRP1_uc001zkd.3_Missense_Mutation_p.R265H	NM_005739	NP_005730	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 isoform a	265	Ras-GEF.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			large_intestine(1)|ovary(1)	2		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CGGCGTGGGGCGGCTGAGAAC	0.502													T	38805039	C	T	38805039	3	4	33	1	0	0	0	0	1	0	0	0	13074	768	27	1	1643	1	RASGRP1	15	38805039	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08		38805039	63726353	269	33693											
CATSPER2	117155	broad.mit.edu	37	chr15	43924471	43924471	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcaactcaaaatatcggaagAgtgagtctctgggccaaaca	10	9	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr15:43924471A>T	uc001zsh.2	-	12	1702	c.1487T>A	c.(1486-1488)CTC>CAC	p.L496H	STRC_uc010udz.1_RNA|CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Missense_Mutation_p.L494H|CATSPER2_uc001zsj.2_Missense_Mutation_p.L494H	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	sperm-associated cation channel 2 isoform 2	496	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			ovary(1)	1		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ATATCGGAAGAGTGAGTCTCT	0.483													T	43924471	A	T	43924471	3	4	33	1	0	0	0	0	1	0	0	0	2688	304	11	5	113	5	CATSPER2	15	43924471	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	5119432	43924471	58606921	270	33694											
SEMA6D	80031	broad.mit.edu	37	chr15	48062707	48062707	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttcaggtgtacgatgggaAgtccagtctggagagtccaa	13	7	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr15:48062707A>C	uc010bek.2	+	19	2307	c.1947A>C	c.(1945-1947)GAA>GAC	p.E649D	SEMA6D_uc001zvw.2_Missense_Mutation_p.E587D|SEMA6D_uc001zvy.2_Missense_Mutation_p.E649D|SEMA6D_uc001zvz.2_Missense_Mutation_p.E593D|SEMA6D_uc001zwa.2_Missense_Mutation_p.K586T|SEMA6D_uc001zwb.2_Missense_Mutation_p.E587D|SEMA6D_uc001zwc.2_Missense_Mutation_p.E574D	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	649	Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TACGATGGGAAGTCCAGTCTG	0.438													C	48062707	A	C	48062707	3	2	33	1	0	0	0	0	1	0	0	0	14042	72	3	5	2060	5	SEMA6D	15	48062707	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	4138236	48062707	54468685	271	33695											
ATP8B4	79895	broad.mit.edu	37	chr15	50189601	50189602	+	In_Frame_Ins	INS	-	-	CCATGAACA													tcggaaataagaccaccttcINScatgaacaaggagaagcctt							TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr15:50189600_50189601T>TCCATGAACA	uc001zxu.3	-	22	2727_2728	c.2585_2586A>TGTTCATGGA	c.(2584-2586)gga>gTGTTCATGGA	p.862_862G>VFM	ATP8B4_uc010ber.3_In_Frame_Ins_p.735_735G>VFM|ATP8B4_uc010ufd.2_In_Frame_Ins_p.672_672G>VFM|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxv.1_In_Frame_Ins_p.160_160G>VFM	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	862					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AAGACCACCTTCCATGAACAAG	0.411													CCATGAACA	50189602	-	CCATGAACA	50189601	7	5	33	1	0	1	1	0	0	0	0	0	1197	855	30	0	1017	0	ATP8B4	15	50189601	In_Frame_Ins	INS	-	TCGA-BR-6458-01A-11D-1800-08	2126894	50189601	52341791	272	33696											
ADAM10	102	broad.mit.edu	37	chr15	58913755	58913755	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatctttacactggtcacTatagccacaatcacattctt	3	12	5	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr15:58913755T>C	uc002afd.1	-	11	1870	c.1426A>G	c.(1426-1428)AGT>GGT	p.S476G	ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.S175G|ADAM10_uc002afe.1_Intron|ADAM10_uc002aff.1_Missense_Mutation_p.S13G	NM_001110	NP_001101	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10 precursor	476	Extracellular (Potential).|Disintegrin.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			skin(2)	2				GBM - Glioblastoma multiforme(80;0.202)		CACTGGTCACTATAGCCACAA	0.403													C	58913755	T	C	58913755	3	2	33	1	0	0	0	0	1	0	0	0	234	1522	53	3	844	3	ADAM10	15	58913755	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	8724154	58913755	43617637	273	33697											
FOXB1	27023	broad.mit.edu	37	chr15	60297500	60297500	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagcgcttcaaggtgcttaAgtccgaccacctggcgccca	10	15	1	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr15:60297500A>C	uc002agj.1	+	2	817	c.338A>C	c.(337-339)AAG>ACG	p.K113T	FOXB1_uc010bgh.1_Intron	NM_012182	NP_036314	Q99853	FOXB1_HUMAN	forkhead box B1	113					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)|central_nervous_system(1)	2						AAGGTGCTTAAGTCCGACCAC	0.697													C	60297500	A	C	60297500	3	2	33	1	0	0	0	0	1	0	0	0	5992	72	3	5	340	5	FOXB1	15	60297500	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	1383745	60297500	42233892	274	33698											
NOX5	79400	broad.mit.edu	37	chr15	69327747	69327747	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggccacgtggctggctcaAgtcctaccactggaccagaa	12	14	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr15:69327747A>C	uc002ars.1	+	6	929	c.909A>C	c.(907-909)CAA>CAC	p.Q303H	NOX5_uc002arp.1_Missense_Mutation_p.Q285H|NOX5_uc002arq.1_Missense_Mutation_p.Q257H|NOX5_uc010bid.1_Missense_Mutation_p.Q268H|NOX5_uc002arr.1_Missense_Mutation_p.Q275H|NOX5_uc010bie.1_Missense_Mutation_p.Q103H|NOX5_uc010bif.1_RNA	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	303	Ferric oxidoreductase.|Cytoplasmic (Potential).				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(1)|pancreas(1)	2						GGCTGGCTCAAGTCCTACCAC	0.617													C	69327747	A	C	69327747	3	2	33	1	0	0	0	0	1	0	0	0	10559	69	3	5	964	5	NOX5	15	69327747	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	9030247	69327747	33203645	275	33699											
CCDC33	80125	broad.mit.edu	37	chr15	74572359	74572359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggaatcagtccttcctctTccaaggccgagatggagcta	11	11	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr15:74572359T>C	uc002axo.2	+	8	1209	c.815T>C	c.(814-816)TTC>TCC	p.F272S	CCDC33_uc002axp.2_Missense_Mutation_p.F94S	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	475							protein binding			ovary(3)|skin(2)	5						TCCTTCCTCTTCCAAGGCCGA	0.612													C	74572359	T	C	74572359	3	2	33	1	0	0	0	0	1	0	0	0	2806	1783	62	3	845	3	CCDC33	15	74572359	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	5244612	74572359	27959033	276	33700											
WHAMM	123720	broad.mit.edu	37	chr15	83499800	83499800	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatcacctgctgagcgaccAcgtgactccttggaaagttt	10	11	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr15:83499800A>G	uc002bje.2	+	9	2597	c.2091A>G	c.(2089-2091)CCA>CCG	p.P697P		NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi	697						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding				0						CTGAGCGACCACGTGACTCCT	0.498													G	83499800	A	G	83499800	2	3	33	1	0	0	0	0	0	0	0	1	17358	146	6	3		3	WHAMM	15	83499800	Silent	SNP	A	TCGA-BR-6458-01A-11D-1800-08	8927441	83499800	19031592	277	33701											
ACAN	176	broad.mit.edu	37	chr15	89391183	89391183	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccccatgcgtgggtgacaAggacagcagcccaggggtca	15	12	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr15:89391183A>C	uc010upo.1	+	9	2020	c.1646A>C	c.(1645-1647)AAG>ACG	p.K549T	ACAN_uc002bmx.2_Missense_Mutation_p.K549T|ACAN_uc010upp.1_Missense_Mutation_p.K549T|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	549					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGGGTGACAAGGACAGCAGC	0.572													C	89391183	A	C	89391183	3	2	33	1	0	0	0	0	1	0	0	0	117	72	3	5	1676	5	ACAN	15	89391183	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	5891383	89391183	13140209	278	33702											
ADAMTS17	170691	broad.mit.edu	37	chr15	100649236	100649236	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatcagtctcgtagggcccGcagggtgtaccgtccaggac	14	12	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr15:100649236G>A	uc002bvv.1	-	14	2053	c.1974C>T	c.(1972-1974)TGC>TGT	p.C658C	ADAMTS17_uc002bvx.1_Silent_p.C415C	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	658	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CGTAGGGCCCGCAGGGTGTAC	0.617													A	100649236	G	A	100649236	2	1	33	1	0	0	0	0	0	0	0	1	262	1079	38	1		1	ADAMTS17	15	100649236	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08	11258053	100649236	1882156	279	33703											
TSC2	7249	broad.mit.edu	37	chr16	2106669	2106669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcaggtgctggacgccGtggtctgctacaactgcctg	13	14	1	0	rs142919353		TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr16:2106669G>A	uc002con.2	+	8	779	c.673G>A	c.(673-675)GTG>ATG	p.V225M	TSC2_uc010bsd.2_Missense_Mutation_p.V225M|TSC2_uc002coo.2_Missense_Mutation_p.V225M|TSC2_uc010uvv.1_Missense_Mutation_p.V188M|TSC2_uc010uvw.1_Missense_Mutation_p.V176M|TSC2_uc002cop.2_Missense_Mutation_p.V25M	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	225	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				GCTGGACGCCGTGGTCTGCTA	0.637			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				A	2106669	G	A	2106669	3	1	33	1	0	0	0	0	1	0	0	0	16603	1145	40	1	699	1	TSC2	16	2106669	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08		2106669	88248084	280	33704											
OR2C1	4993	broad.mit.edu	37	chr16	3406818	3406818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccctcatctacacgctgcGgaacatggaagtgaagggcg	12	12	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr16:3406818G>A	uc002cuw.1	+	1	930	c.878G>A	c.(877-879)CGG>CAG	p.R293Q		NM_012368	NP_036500	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C,	293	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TACACGCTGCGGAACATGGAA	0.512													A	3406818	G	A	3406818	3	1	33	1	0	0	0	0	1	0	0	0	10992	1116	39	1	880	1	OR2C1	16	3406818	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	1300149	3406818	86947935	281	33705											
C16orf62	57020	broad.mit.edu	37	chr16	19603148	19603148	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagacaccagtgttattcagTtctacccaagcaaatttgtc	6	11	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr16:19603148T>G	uc002dgn.1	+	8	688	c.676T>G	c.(676-678)TTC>GTC	p.F226V	C16orf62_uc002dgo.1_Missense_Mutation_p.F226V|C16orf62_uc002dgp.1_Intron|C16orf62_uc010vas.1_Missense_Mutation_p.F100V|C16orf62_uc002dgm.1_Missense_Mutation_p.F226V	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	226						integral to membrane				ovary(1)	1						TGTTATTCAGTTCTACCCAAG	0.378													G	19603148	T	G	19603148	3	3	33	1	0	0	0	0	1	0	0	0	1825	1725	60	5	706	5	C16orf62	16	19603148	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	16196330	19603148	70751605	282	33706											
GPRC5B	51704	broad.mit.edu	37	chr16	19883494	19883494	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagcttccacctcttgaacTtgccgcacagagtgaagagg	10	12	2	4			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr16:19883494T>C	uc002dgt.2	-	2	782	c.674A>G	c.(673-675)AAG>AGG	p.K225R	GPRC5B_uc010vav.1_Missense_Mutation_p.K251R	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5,	225	Cytoplasmic (Potential).									lung(1)|breast(1)|skin(1)	3						CCTCTTGAACTTGCCGCACAG	0.582													C	19883494	T	C	19883494	3	2	33	1	0	0	0	0	1	0	0	0	6725	1609	56	3	549	3	GPRC5B	16	19883494	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	280346	19883494	70471259	283	33707											
DCTN5	84516	broad.mit.edu	37	chr16	23678440	23678440	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaagagctactaccagaAgtttttgcccctgacgcaag	8	13	0	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr16:23678440A>C	uc002dly.1	+	6	581	c.524A>C	c.(523-525)AAG>ACG	p.K175T		NM_032486	NP_115875	Q9BTE1	DCTN5_HUMAN	dynactin 5	175						centrosome	transferase activity			upper_aerodigestive_tract(1)	1				GBM - Glioblastoma multiforme(48;0.0156)		TACTACCAGAAGTTTTTGCCC	0.522													C	23678440	A	C	23678440	3	2	33	1	0	0	0	0	1	0	0	0	4310	72	3	5	546	5	DCTN5	16	23678440	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	3794946	23678440	66676313	284	33708											
SEZ6L2	26470	broad.mit.edu	37	chr16	29897033	29897033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtccgaatcatagatcaCgggggatagggggctgcccc	14	11	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr16:29897033C>T	uc002duq.3	-	8	1486	c.1246G>A	c.(1246-1248)GTG>ATG	p.V416M	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.V346M|SEZ6L2_uc002dur.3_Missense_Mutation_p.V346M|SEZ6L2_uc002dus.3_Missense_Mutation_p.V302M|SEZ6L2_uc010vec.1_Missense_Mutation_p.V416M|SEZ6L2_uc010ved.1_Missense_Mutation_p.V372M	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	416	CUB 2.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						TCATAGATCACGGGGGATAGG	0.612													T	29897033	C	T	29897033	3	4	33	1	0	0	0	0	1	0	0	0	14144	536	19	1	1569	1	SEZ6L2	16	29897033	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	6218593	29897033	60457720	285	33709											
GABARAPL2	11345	broad.mit.edu	37	chr16	75602021	75602021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgatatcactgtggctcaGttcatgtggatcatcaggaa	10	8	6	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr16:75602021G>A	uc002fen.2	+	3	313	c.177G>A	c.(175-177)CAG>CAA	p.Q59Q	GABARAPL2_uc010cgy.2_Intron	NM_007285	NP_009216	P60520	GBRL2_HUMAN	GABA(A) receptor-associated protein-like 2	59	Interaction with GABRG2 (Potential).				autophagy|intra-Golgi vesicle-mediated transport|positive regulation of ATPase activity|protein transport	autophagic vacuole membrane|cytosol|Golgi membrane|membrane fraction	ATPase binding|beta-tubulin binding|GABA receptor binding|microtubule binding|SNARE binding			ovary(1)	1						CTGTGGCTCAGTTCATGTGGA	0.453													A	75602021	G	A	75602021	2	1	33	1	0	0	0	0	0	0	0	1	6154	1020	36	4		4	GABARAPL2	16	75602021	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08	45704988	75602021	14752732	286	33710											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576	by1000genomes	TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr17:7577120C>T	uc002gim.2	-	8	1012	c.818G>A	c.(817-819)CGT>CAT	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577120	C	T	7577120	3	4	33	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08		7577120	73618090	287	33711											
DNAH2	146754	broad.mit.edu	37	chr17	7684068	7684068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgctatgctggcaagaagCgccgcctacagccggatctg	13	13	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr17:7684068C>T	uc002giu.1	+	37	5985	c.5971C>T	c.(5971-5973)CGC>TGC	p.R1991C		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1991					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGCAAGAAGCGCCGCCTACA	0.557													T	7684068	C	T	7684068	3	4	33	1	0	0	0	0	1	0	0	0	4602	768	27	1	6117	1	DNAH2	17	7684068	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	106948	7684068	73511142	288	33712											
MYH2	4620	broad.mit.edu	37	chr17	10428647	10428647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccttctgcaatctgttccGtgaggtcagaaatctcctct	7	13	5	2	rs138796340		TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr17:10428647G>A	uc010coi.2	-	33	4684	c.4556C>T	c.(4555-4557)ACG>ATG	p.T1519M	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.T1519M|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1519	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						AATCTGTTCCGTGAGGTCAGA	0.383													A	10428647	G	A	10428647	3	1	33	1	0	0	0	0	1	0	0	0	10035	1145	40	1	1301	1	MYH2	17	10428647	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	2744579	10428647	70766563	289	33713											
EFCAB5	374786	broad.mit.edu	37	chr17	28417521	28417521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcatatagtagttccacttCgtgagagaacaggagaggct	12	8	0	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr17:28417521C>T	uc002het.2	+	20	3958	c.3766C>T	c.(3766-3768)CGT>TGT	p.R1256C	EFCAB5_uc010cse.2_Missense_Mutation_p.R1011C|EFCAB5_uc010csf.2_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	1256							calcium ion binding			ovary(1)|skin(1)	2						AGTTCCACTTCGTGAGAGAAC	0.393													T	28417521	C	T	28417521	3	4	33	1	0	0	0	0	1	0	0	0	4938	884	31	1	4011	1	EFCAB5	17	28417521	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	17988874	28417521	52777689	290	33714											
CCL8	6355	broad.mit.edu	37	chr17	32647919	32647919	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatatttcaaaatctgaAgccatgagccttcatacatg	5	10	3	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr17:32647919A>C	uc002hib.2	+	3	748	c.293A>C	c.(292-294)AAG>ACG	p.K98T		NM_005623	NP_005614	P80075	CCL8_HUMAN	small inducible cytokine A8 precursor	98					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity				0		Ovarian(249;0.0443)|Breast(31;0.151)				CAAAATCTGAAGCCATGAGCC	0.453													C	32647919	A	C	32647919	3	2	33	1	0	0	0	0	1	0	0	0	2907	72	3	5	303	5	CCL8	17	32647919	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	4230398	32647919	48547291	291	33715											
SOCS7	30837	broad.mit.edu	37	chr17	36508871	36508871	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctgcttcagctgcgagcctGacagacatgggaggctctgc	14	12	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr17:36508871G>T	uc002hqa.2	+	1	867	c.744G>T	c.(742-744)CTG>CTT	p.L248L	SOCS7_uc010cvl.2_Silent_p.L248L|SOCS7_uc002hqb.2_RNA	NM_014598	NP_055413	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	248	Mediates interaction with SORBS3.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			skin(1)	1	Breast(7;3.47e-17)					CTGCGAGCCTGACAGACATGG	0.647													T	36508871	G	T	36508871	2	4	33	1	0	0	0	0	0	0	0	1	14919	1277	45	5		5	SOCS7	17	36508871	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08	3860952	36508871	44686339	292	33716											
ABCA8	10351	broad.mit.edu	37	chr17	66898948	66898948	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaagttcccaggtgtaActgttttgatatattttcac	9	6	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr17:66898948A>C	uc002jhp.2	-	19	2729	c.2550T>G	c.(2548-2550)AGT>AGG	p.S850R	ABCA8_uc002jhq.2_Missense_Mutation_p.S890R|ABCA8_uc010wqq.1_Missense_Mutation_p.S890R|ABCA8_uc010wqr.1_Missense_Mutation_p.S829R|ABCA8_uc002jhr.2_Missense_Mutation_p.S890R	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	850						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					CCCAGGTGTAACTGTTTTGAT	0.373													C	66898948	A	C	66898948	3	2	33	1	0	0	0	0	1	0	0	0	38	40	2	5	2275	5	ABCA8	17	66898948	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	30390077	66898948	14296262	293	33717											
KIAA0802	23255	broad.mit.edu	37	chr18	8783803	8783803	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcgtggagctggaggtggaGaaccgtggcctcaaggcaga	17	8	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr18:8783803G>A	uc002knr.2	+	6	835	c.693G>A	c.(691-693)GAG>GAA	p.E231E	KIAA0802_uc002knq.2_Silent_p.E231E|KIAA0802_uc010dkw.1_Silent_p.E69E	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	582	Potential.										0						TGGAGGTGGAGAACCGTGGCC	0.672													A	8783803	G	A	8783803	2	1	33	1	0	0	0	0	0	0	0	1	8194	933	33	4		4	KIAA0802	18	8783803	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08		8783803	69293445	294	33718											
ZNF521	25925	broad.mit.edu	37	chr18	22806982	22806982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccgctatgcacctgctcCatgtggttcatgagggaggt	12	12	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr18:22806982C>T	uc002kvk.2	-	4	1147	c.900G>A	c.(898-900)ATG>ATA	p.M300I	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.M300I|ZNF521_uc002kvl.2_Missense_Mutation_p.M80I	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	300	C2H2-type 7.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCACCTGCTCCATGTGGTTCA	0.552			T	PAX5	ALL								T	22806982	C	T	22806982	3	4	33	1	0	0	0	0	1	0	0	0	17962	594	21	4	3055	4	ZNF521	18	22806982	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	14023179	22806982	55270266	295	33719											
SLC39A6	25800	broad.mit.edu	37	chr18	33706542	33706542	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatggtctgggcaaagagcTtttcgcttatttttaccaga	9	8	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr18:33706542T>G	uc010dmy.2	-	2	719	c.429A>C	c.(427-429)AAA>AAC	p.K143N	SLC39A6_uc002kzj.2_Intron	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	143	Extracellular (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2						GGCAAAGAGCTTTTCGCTTAT	0.303													G	33706542	T	G	33706542	3	3	33	1	0	0	0	0	1	0	0	0	14622	1606	56	5	1886	5	SLC39A6	18	33706542	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	10899560	33706542	44370706	296	33720											
MC4R	4160	broad.mit.edu	37	chr18	58039273	58039273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtactgtttaatagggtgaTgacaatggtttctgatccat	10	5	1	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr18:58039273T>C	uc002lie.1	-	1	729	c.310A>G	c.(310-312)ATC>GTC	p.I104V		NM_005912	NP_005903	P32245	MC4R_HUMAN	melanocortin 4 receptor	104	Helical; Name=2; (Potential).				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			lung(1)	1		Colorectal(73;0.0946)				AATAGGGTGATGACAATGGTT	0.423													C	58039273	T	C	58039273	3	2	33	1	0	0	0	0	1	0	0	0	9366	1464	51	3	692	3	MC4R	18	58039273	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	24332731	58039273	20037975	297	33721											
CDH7	1005	broad.mit.edu	37	chr18	63481784	63481784	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tacatatggcaacagtgccaGagtggtctacagtattctgc	10	9	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr18:63481784G>C	uc002ljz.2	+	4	894	c.569G>C	c.(568-570)AGA>ACA	p.R190T	CDH7_uc002lka.2_Missense_Mutation_p.R190T|CDH7_uc002lkb.2_Missense_Mutation_p.R190T	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	190	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				AACAGTGCCAGAGTGGTCTAC	0.428													C	63481784	G	C	63481784	3	2	33	1	0	0	0	0	1	0	0	0	3115	942	33	5	579	5	CDH7	18	63481784	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	5442511	63481784	14595464	298	33722											
MUC16	94025	broad.mit.edu	37	chr19	9058990	9058990	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catattgggagctgaagtggTctcaggttccaaacttgcat	11	8	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr19:9058990T>G	uc002mkp.2	-	3	28660	c.28456A>C	c.(28456-28458)ACC>CCC	p.T9486P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9488	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GCTGAAGTGGTCTCAGGTTCC	0.478													G	9058990	T	G	9058990	3	3	33	1	0	0	0	0	1	0	0	0	9973	1667	58	5	15395	5	MUC16	19	9058990	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08		9058990	50069993	299	33723											
ZNF317	57693	broad.mit.edu	37	chr19	9271459	9271459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtccaactttaatttgCacaagaagaaccacatggtg	9	8	0	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr19:9271459C>T	uc002mku.2	+	7	1413	c.1138C>T	c.(1138-1140)CAC>TAC	p.H380Y	ZNF317_uc002mkv.2_Missense_Mutation_p.H239Y|ZNF317_uc002mkw.2_Missense_Mutation_p.H348Y|ZNF317_uc002mkx.2_Missense_Mutation_p.H295Y|ZNF317_uc002mky.2_Missense_Mutation_p.H263Y	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	380	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTTTAATTTGCACAAGAAGAA	0.522													T	9271459	C	T	9271459	3	4	33	1	0	0	0	0	1	0	0	0	17832	710	25	2	1160	2	ZNF317	19	9271459	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	212469	9271459	49857524	300	33724											
MAST1	22983	broad.mit.edu	37	chr19	12969369	12969369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctacctggtgcggcaccgCgacacgcggcagcgctttgc	14	15	1	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr19:12969369C>T	uc002mvm.2	+	12	1310	c.1182C>T	c.(1180-1182)CGC>CGT	p.R394R	MAST1_uc002mvk.2_Silent_p.R390R	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	394	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						TGCGGCACCGCGACACGCGGC	0.647													T	12969369	C	T	12969369	2	4	33	1	0	0	0	0	0	0	0	1	9324	755	27	1		1	MAST1	19	12969369	Silent	SNP	C	TCGA-BR-6458-01A-11D-1800-08	3697910	12969369	46159614	301	33725											
CALR	811	broad.mit.edu	37	chr19	13051267	13051267	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagactccaagcctgagGttggtgtttgggcaggggct	15	10	0	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr19:13051267G>A	uc002mvu.2	+	5	782	c.702_splice	c.e5+1	p.E234_splice		NM_004343	NP_004334	P27797	CALR_HUMAN	calreticulin precursor						cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAGCCTGAGGTTGGTGTTTG	0.552													A	13051267	G	A	13051267	5	1	33	1	0	0	0	0	0	0	1	0	2592	1275	44	4	721	4	CALR	19	13051267	Splice_Site	SNP	G	TCGA-BR-6458-01A-11D-1800-08	81898	13051267	46077716	302	33726											
OR7A17	26333	broad.mit.edu	37	chr19	14991857	14991857	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctaaccctccaaaaagtacaAaaaagcacatctgggtgatg	7	10	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr19:14991857A>T	uc010xob.1	-	1	311	c.311T>A	c.(310-312)TTT>TAT	p.F104Y		NM_030901	NP_112163	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A,	104	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)					AAAAAGTACAAAAAAGCACAT	0.463													T	14991857	A	T	14991857	3	4	33	1	0	0	0	0	1	0	0	0	11215	14	1	5	620	5	OR7A17	19	14991857	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	1940590	14991857	44137126	303	33727											
TM6SF2	53345	broad.mit.edu	37	chr19	19381881	19381881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggacaagctgtagaccGccacgaaaagcagacccagg	12	12	0	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr19:19381881G>A	uc002nmd.1	-	2	199	c.149C>T	c.(148-150)GCG>GTG	p.A50V	HAPLN4_uc002nmc.2_5'UTR	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	50	Helical; (Potential).					integral to membrane					0			Epithelial(12;0.0151)			GCTGTAGACCGCCACGAAAAG	0.607													A	19381881	G	A	19381881	3	1	33	1	0	0	0	0	1	0	0	0	15970	1087	38	1	1020	1	TM6SF2	19	19381881	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	4390024	19381881	39747102	304	33728											
ZNF43	7594	broad.mit.edu	37	chr19	21992308	21992308	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaaatgatttgccacattcTttgcatttgaaaagtttttt	5	6	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr19:21992308T>A	uc002nqj.2	-	4	661	c.531A>T	c.(529-531)AAA>AAT	p.K177N	ZNF43_uc010ecv.2_Missense_Mutation_p.K171N|ZNF43_uc002nql.2_Missense_Mutation_p.K171N|ZNF43_uc002nqm.2_Missense_Mutation_p.K171N|ZNF43_uc002nqk.2_Missense_Mutation_p.K107N	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	177	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TGCCACATTCTTTGCATTTGA	0.289													A	21992308	T	A	21992308	3	1	33	1	0	0	0	0	1	0	0	0	17900	1606	56	5	1902	5	ZNF43	19	21992308	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	2610427	21992308	37136675	305	33729											
ZNF99	7652	broad.mit.edu	37	chr19	22951153	22951153	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcatattccaaggctcTttcccttgcttcagacaagt	5	13	4	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr19:22951153T>C	uc010xrh.1	-	3	243	c.243A>G	c.(241-243)AAA>AAG	p.K81K		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCCAAGGCTCTTTCCCTTGCT	0.368													C	22951153	T	C	22951153	2	2	33	1	0	0	0	0	0	0	0	1	18201	1606	56	3		3	ZNF99	19	22951153	Silent	SNP	T	TCGA-BR-6458-01A-11D-1800-08	958845	22951153	36177830	306	33730											
TSHZ3	57616	broad.mit.edu	37	chr19	31769734	31769734	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagctccagggaagctttcTtccgagtggcagggatgatt	13	10	1	1	rs146913156		TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr19:31769734T>A	uc002nsy.3	-	2	1030	c.965A>T	c.(964-966)AAG>ATG	p.K322M		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	322					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					GGAAGCTTTCTTCCGAGTGGC	0.522													A	31769734	T	A	31769734	3	1	33	1	0	0	0	0	1	0	0	0	16622	1609	56	5	2284	5	TSHZ3	19	31769734	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	8818581	31769734	27359249	307	33731											
MLL4	9757	broad.mit.edu	37	chr19	36218419	36218419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggggcagcgcagcccCgctggcgagaggccctgagc	18	14	0	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr19:36218419C>T	uc010eei.2	+	17	4198	c.4198C>T	c.(4198-4200)CGC>TGC	p.R1400C		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1400					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCGCAGCCCCGCTGGCGAGA	0.667													T	36218419	C	T	36218419	3	4	33	1	0	0	0	0	1	0	0	0	9623	652	23	1	4260	1	MLL4	19	36218419	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	4448685	36218419	22910564	308	33732											
EGLN2	112398	broad.mit.edu	37	chr19	41307126	41307126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggccctcaaacggggtGggcgcctgcgagacgggcag	19	11	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr19:41307126G>A	uc010ehd.2	+	8	1650	c.649G>A	c.(649-651)GGG>AGG	p.G217R	EGLN2_uc002opg.3_Missense_Mutation_p.G217R|EGLN2_uc002oph.2_Missense_Mutation_p.G217R|EGLN2_uc002opi.2_Missense_Mutation_p.G217R	NM_080732	NP_542770	Q96KS0	EGLN2_HUMAN	EGL nine (C.elegans) homolog 2	217					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	CAAACGGGGTGGGCGCCTGCG	0.687													A	41307126	G	A	41307126	3	1	33	1	0	0	0	0	1	0	0	0	4969	1348	47	4	651	4	EGLN2	19	41307126	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	5088707	41307126	17821857	309	33733											
PSG2	5670	broad.mit.edu	37	chr19	43570731	43570731	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgttggattaaggagaggaAgaagtcctattcttgtagaa	12	3	1	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr19:43570731A>G	uc002ovr.2	-	5	1079	c.986T>C	c.(985-987)CTT>CCT	p.L329P	PSG10_uc002ouv.1_RNA|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.L329P|PSG2_uc010eiq.1_Intron|PSG2_uc002ovs.3_Missense_Mutation_p.L329P|PSG2_uc002ovt.3_Missense_Mutation_p.L329P	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	329					cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)				AAGGAGAGGAAGAAGTCCTAT	0.418													G	43570731	A	G	43570731	3	3	33	1	0	0	0	0	1	0	0	0	12655	72	3	3	25	3	PSG2	19	43570731	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	2263605	43570731	15558252	310	33734											
ZNF404	342908	broad.mit.edu	37	chr19	44377328	44377328	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctcactactatgaattctCttatgtttaagaaggcttga	6	7	2	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr19:44377328C>A	uc002oxs.3	-	2	1038	c.1029G>T	c.(1027-1029)AAG>AAT	p.K343N		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	zinc finger protein 404	346	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TATGAATTCTCTTATGTTTAA	0.393													A	44377328	C	A	44377328	3	1	33	1	0	0	0	0	1	0	0	0	17883	912	32	5	624	5	ZNF404	19	44377328	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	806597	44377328	14751655	311	33735											
ZNF285	26974	broad.mit.edu	37	chr19	44891483	44891483	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgtctcctgaggagacTttctgatatctgggaaggtc	13	7	3	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr19:44891483T>G	uc002ozd.3	-	4	1011	c.924A>C	c.(922-924)AAA>AAC	p.K308N	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.K315N	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4						CTGAGGAGACTTTCTGATATC	0.483													G	44891483	T	G	44891483	3	3	33	1	0	0	0	0	1	0	0	0	17819	1606	56	5	852	5	ZNF285	19	44891483	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	514155	44891483	14237500	312	33736											
PRKD2	25865	broad.mit.edu	37	chr19	47192802	47192802	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcagacgcacctgggtgaTgaggaacttggtgaggcgct	18	8	0	4			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr19:47192802T>C	uc002pfh.2	-	15	2305	c.1963A>G	c.(1963-1965)ATC>GTC	p.I655V	PRKD2_uc002pfd.2_Missense_Mutation_p.I29V|PRKD2_uc010eks.2_Missense_Mutation_p.I58V|PRKD2_uc010ekt.2_5'UTR|PRKD2_uc002pfe.2_Missense_Mutation_p.I175V|PRKD2_uc002pff.2_Missense_Mutation_p.I175V|PRKD2_uc002pfg.2_Missense_Mutation_p.I498V|PRKD2_uc002pfi.2_Missense_Mutation_p.I655V|PRKD2_uc002pfj.2_Missense_Mutation_p.I655V|PRKD2_uc010xye.1_Missense_Mutation_p.I655V|PRKD2_uc002pfk.2_Missense_Mutation_p.I498V	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	655	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		ACCTGGGTGATGAGGAACTTG	0.607													C	47192802	T	C	47192802	3	2	33	1	0	0	0	0	1	0	0	0	12519	1464	51	3	693	3	PRKD2	19	47192802	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	2301319	47192802	11936181	313	33737											
FKRP	79147	broad.mit.edu	37	chr19	47259669	47259669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccctgctgcctgcgcgCgctgcgcgagaccgcccgct	13	21	0	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr19:47259669C>T	uc002pfn.2	+	4	1259	c.962C>T	c.(961-963)GCG>GTG	p.A321V	FKRP_uc002pfp.2_Missense_Mutation_p.A321V	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	fukutin-related protein	321						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			pancreas(1)	1		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		TGCCTGCGCGCGCTGCGCGAG	0.741													T	47259669	C	T	47259669	3	4	33	1	0	0	0	0	1	0	0	0	5917	768	27	1	964	1	FKRP	19	47259669	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	66867	47259669	11869314	314	33738											
NPAS1	4861	broad.mit.edu	37	chr19	47542709	47542709	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggcccacgccctgggcctTgtggccctcgggcacacgtt	14	17	0	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr19:47542709T>C	uc002pfw.2	+	8	1045	c.849T>C	c.(847-849)CTT>CTC	p.L283L	NPAS1_uc002pfx.2_Silent_p.L108L|NPAS1_uc002pfy.2_Silent_p.L283L|NPAS1_uc010xyj.1_Silent_p.L107L	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	283					central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		CCCTGGGCCTTGTGGCCCTCG	0.677													C	47542709	T	C	47542709	2	2	33	1	0	0	0	0	0	0	0	1	10562	1799	63	3		3	NPAS1	19	47542709	Silent	SNP	T	TCGA-BR-6458-01A-11D-1800-08	283040	47542709	11586274	315	33739											
ZNF613	79898	broad.mit.edu	37	chr19	52448445	52448445	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgaatgtgggaaaggcTtcagccagaagacatgttta	12	6	1	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr19:52448445T>G	uc002pxz.1	+	6	1732	c.1309T>G	c.(1309-1311)TTC>GTC	p.F437V	ZNF613_uc002pya.1_Missense_Mutation_p.F401V	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	437	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TGGGAAAGGCTTCAGCCAGAA	0.438													G	52448445	T	G	52448445	3	3	33	1	0	0	0	0	1	0	0	0	18035	1609	56	5	1323	5	ZNF613	19	52448445	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	4905736	52448445	6680538	316	33740											
LILRA4	23547	broad.mit.edu	37	chr19	54849465	54849465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgttcactcctgaggtcaCcacagggcttggcagtgcgg	13	13	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr19:54849465C>T	uc002qfj.2	-	4	454	c.397G>A	c.(397-399)GTG>ATG	p.V133M	LILRA4_uc002qfi.2_Missense_Mutation_p.V67M	NM_012276	NP_036408	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor subfamily	133	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane	receptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCTGAGGTCACCACAGGGCTT	0.582													T	54849465	C	T	54849465	3	4	33	1	0	0	0	0	1	0	0	0	8787	507	18	4	1122	4	LILRA4	19	54849465	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	2401020	54849465	4279518	317	33741											
IL11	3589	broad.mit.edu	37	chr19	55880255	55880255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaggtggtggcccagggGcgacagctgtatctggccac	17	12	1	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr19:55880255G>A	uc002qks.1	-	2	198	c.62C>T	c.(61-63)GCC>GTC	p.A21V	IL11_uc010yfx.1_Intron	NM_000641	NP_000632	P20809	IL11_HUMAN	interleukin 11 precursor	21					B cell differentiation|fat cell differentiation|megakaryocyte differentiation|negative regulation of hormone secretion|platelet activation|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity|growth factor activity|interleukin-11 receptor binding				0	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	Oprelvekin(DB00038)	TGGCCCAGGGGCGACAGCTGT	0.652													A	55880255	G	A	55880255	3	1	33	1	0	0	0	0	1	0	0	0	7622	1203	42	2	553	2	IL11	19	55880255	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	1030790	55880255	3248728	318	33742											
VPS16	64601	broad.mit.edu	37	chr20	2845684	2845684	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgccttctacaaggccaagAatgagtttgcagccaaggtt	10	9	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr20:2845684A>C	uc002whe.2	+	20	2035	c.1987A>C	c.(1987-1989)AAT>CAT	p.N663H	VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'UTR|VPS16_uc002whf.2_Missense_Mutation_p.N519H|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.N349H|VPS16_uc002whi.2_Missense_Mutation_p.N147H	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 isoform 1	663					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				ovary(2)|pancreas(1)|skin(1)	4						CAAGGCCAAGAATGAGTTTGC	0.542													C	2845684	A	C	2845684	3	2	33	1	0	0	0	0	1	0	0	0	17190	246	9	5	2065	5	VPS16	20	2845684	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08		2845684	60179836	319	33743											
HAO1	54363	broad.mit.edu	37	chr20	7920962	7920962	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaatattatcagccaaAgtttcttcatcatttgcccc	5	12	4	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr20:7920962A>G	uc002wmw.1	-	1	132	c.108T>C	c.(106-108)ACT>ACC	p.T36T	HAO1_uc010gbu.2_Silent_p.T36T	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase 1	36	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			ovary(3)	3						TATCAGCCAAAGTTTCTTCAT	0.318													G	7920962	A	G	7920962	2	3	33	1	0	0	0	0	0	0	0	1	6951	59	3	3		3	HAO1	20	7920962	Silent	SNP	A	TCGA-BR-6458-01A-11D-1800-08	5075278	7920962	55104558	320	33744											
NINL	22981	broad.mit.edu	37	chr20	25459831	25459831	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgccgcaatttccctttcGtagtaatttacctaaaacga	6	10	0	0	rs148406486	by1000genomes	TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr20:25459831G>A	uc002wux.1	-	16	2003	c.1929C>T	c.(1927-1929)TAC>TAT	p.Y643Y	NINL_uc010gdn.1_Silent_p.Y643Y|NINL_uc010gdo.1_Silent_p.Y426Y	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	643	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						TTTCCCTTTCGTAGTAATTTA	0.527													A	25459831	G	A	25459831	2	1	33	1	0	0	0	0	0	0	0	1	10420	1140	40	1		1	NINL	20	25459831	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08	17538869	25459831	37565689	321	33745											
DNMT3B	1789	broad.mit.edu	37	chr20	31386384	31386384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctgtcatggcgtcctgCggcgccggaaggactggaac	16	12	1	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr20:31386384C>T	uc002wyc.2	+	15	1930	c.1609C>T	c.(1609-1611)CGG>TGG	p.R537W	DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Missense_Mutation_p.R517W|DNMT3B_uc002wye.2_Missense_Mutation_p.R517W|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.R475W|DNMT3B_uc010zua.1_Missense_Mutation_p.R441W|DNMT3B_uc002wyf.2_Missense_Mutation_p.R529W|DNMT3B_uc002wyg.2_Missense_Mutation_p.R236W|DNMT3B_uc010geg.2_5'Flank|DNMT3B_uc010geh.2_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	537	ADD.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5						TGGCGTCCTGCGGCGCCGGAA	0.637													T	31386384	C	T	31386384	3	4	33	1	0	0	0	0	1	0	0	0	4677	759	27	1	1703	1	DNMT3B	20	31386384	Missense_Mutation	SNP	C	TCGA-BR-6458-01A-11D-1800-08	5926553	31386384	31639136	322	33746											
BPIL1	80341	broad.mit.edu	37	chr20	31601629	31601629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctacagcgccccagagcccCtggagctgacgctgcctgtg	12	17	0	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr20:31601629C>T	uc002wyj.2	+	5	516	c.322C>T	c.(322-324)CTG>TTG	p.L108L		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	bactericidal/permeability-increasing	108						extracellular region	lipid binding			skin(2)|large_intestine(1)|ovary(1)	4						CCCAGAGCCCCTGGAGCTGAC	0.612													T	31601629	C	T	31601629	2	4	33	1	0	0	0	0	0	0	0	1	1491	680	24	4		4	BPIL1	20	31601629	Silent	SNP	C	TCGA-BR-6458-01A-11D-1800-08	215245	31601629	31423891	323	33747											
RPN2	6185	broad.mit.edu	37	chr20	35862467	35862467	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaacttcacttttgctccTagcacgattatatttcacct	3	13	2	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr20:35862467T>C	uc002xgp.2	+	15	2026	c.1722T>C	c.(1720-1722)CCT>CCC	p.P574P	RPN2_uc002xgq.2_Silent_p.P542P	NM_002951	NP_002942	P04844	RPN2_HUMAN	ribophorin II isoform 1 precursor	574	Helical; (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				CTTTTGCTCCTAGCACGATTA	0.458													C	35862467	T	C	35862467	2	2	33	1	0	0	0	0	0	0	0	1	13608	1509	53	3		3	RPN2	20	35862467	Silent	SNP	T	TCGA-BR-6458-01A-11D-1800-08	4260838	35862467	27163053	324	33748											
SLC32A1	140679	broad.mit.edu	37	chr20	37357171	37357171	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcaagctgctgtggcaccaAgtcttcttcgacgtcgccat	10	14	2	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr20:37357171A>C	uc002xjc.2	+	2	1730	c.1467A>C	c.(1465-1467)CAA>CAC	p.Q489H		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	489	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGTGGCACCAAGTCTTCTTCG	0.642													C	37357171	A	C	37357171	3	2	33	1	0	0	0	0	1	0	0	0	14565	69	3	5	1473	5	SLC32A1	20	37357171	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	1494704	37357171	25668349	325	33749											
DDX27	55661	broad.mit.edu	37	chr20	47851592	47851592	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggtgagctccatggcaActtgtcacagacgcagcggc	15	11	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr20:47851592A>C	uc002xuh.2	+	12	1548	c.1487A>C	c.(1486-1488)AAC>ACC	p.N496T		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	496	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			kidney(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTCCATGGCAACTTGTCACAG	0.597													C	47851592	A	C	47851592	3	2	33	1	0	0	0	0	1	0	0	0	4354	43	2	5	1533	5	DDX27	20	47851592	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	10494421	47851592	15173928	326	33750											
KCNG1	3755	broad.mit.edu	37	chr20	49620993	49620993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcaggagcccgaactcGcgggtgcagcggcgggccgt	18	13	0	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr20:49620993G>A	uc002xwa.3	-	3	1420	c.1125C>T	c.(1123-1125)CGC>CGT	p.R375R		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	375	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						GCCCGAACTCGCGGGTGCAGC	0.701													A	49620993	G	A	49620993	2	1	33	1	0	0	0	0	0	0	0	1	8027	1074	38	1		1	KCNG1	20	49620993	Silent	SNP	G	TCGA-BR-6458-01A-11D-1800-08	1769401	49620993	13404527	327	33751											
SALL4	57167	broad.mit.edu	37	chr20	50406871	50406871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccctagcgtgggtgatgcCgagtggatgctgggaagagg	18	7	0	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr20:50406871C>T	uc002xwh.3	-	2	2252	c.2151G>A	c.(2149-2151)TCG>TCA	p.S717S	SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	717					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TGGGTGATGCCGAGTGGATGC	0.577													T	50406871	C	T	50406871	2	4	33	1	0	0	0	0	0	0	0	1	13813	639	23	1		1	SALL4	20	50406871	Silent	SNP	C	TCGA-BR-6458-01A-11D-1800-08	785878	50406871	12618649	328	33752											
ARFGAP1	55738	broad.mit.edu	37	chr20	61910326	61910326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgacttcctcaacaaCgccatgtcctccctgtactc	6	15	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr20:61910326C>T	uc002yem.2	+	7	718	c.606C>T	c.(604-606)AAC>AAT	p.N202N	ARFGAP1_uc011aas.1_Silent_p.N149N|ARFGAP1_uc011aat.1_Silent_p.N89N|ARFGAP1_uc002yel.2_Silent_p.N202N|ARFGAP1_uc002yen.2_Silent_p.N202N	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating	202					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			pancreas(1)	1	all_cancers(38;1.59e-09)					TCCTCAACAACGCCATGTCCT	0.607													T	61910326	C	T	61910326	2	4	33	1	0	0	0	0	0	0	0	1	849	535	19	1		1	ARFGAP1	20	61910326	Silent	SNP	C	TCGA-BR-6458-01A-11D-1800-08	11503455	61910326	1115194	329	33753											
TPTE	7179	broad.mit.edu	37	chr21	10906985	10906985	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaatctgatggataaaTtctccgtgctttttgtttat	8	6	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr21:10906985T>G	uc002yip.1	-	24	1944	c.1576A>C	c.(1576-1578)ATT>CTT	p.I526L	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.I508L|TPTE_uc002yir.1_Missense_Mutation_p.I488L|TPTE_uc010gkv.1_Missense_Mutation_p.I388L	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	526	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GATGGATAAATTCTCCGTGCT	0.363													G	10906985	T	G	10906985	3	3	33	1	0	0	0	0	1	0	0	0	16427	1493	52	5	83	5	TPTE	21	10906985	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08		10906985	37222910	330	33754											
TIAM1	7074	broad.mit.edu	37	chr21	32554938	32554938	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcacgattattgatctcaAgaatctcatctcctgctttc	5	12	3	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr21:32554938A>G	uc002yow.1	-	16	3159	c.2687T>C	c.(2686-2688)CTT>CCT	p.L896P	TIAM1_uc011adk.1_Missense_Mutation_p.L896P|TIAM1_uc011adl.1_Missense_Mutation_p.L836P	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	896	PDZ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						ATTGATCTCAAGAATCTCATC	0.473													G	32554938	A	G	32554938	3	3	33	1	0	0	0	0	1	0	0	0	15887	72	3	3	2144	3	TIAM1	21	32554938	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	21647953	32554938	15574957	331	33755											
ADRBK2	157	broad.mit.edu	37	chr22	26110408	26110408	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accaagaactctacaagaacTtccctttggtcatctctgaa	5	12	3	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr22:26110408T>G	uc003abx.3	+	18	1672	c.1525T>G	c.(1525-1527)TTC>GTC	p.F509V	ADRBK2_uc003abw.2_Missense_Mutation_p.F396V|ADRBK2_uc003aby.3_RNA	NM_005160	NP_005151	P35626	ARBK2_HUMAN	beta-adrenergic receptor kinase 2	509	AGC-kinase C-terminal.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7					Adenosine triphosphate(DB00171)	CTACAAGAACTTCCCTTTGGT	0.408													G	26110408	T	G	26110408	3	3	33	1	0	0	0	0	1	0	0	0	344	1609	56	5	1595	5	ADRBK2	22	26110408	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08		26110408	25194158	332	33756											
CRYBA4	1413	broad.mit.edu	37	chr22	27024279	27024279	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgactcgaggctgacaatcTtcgagcaagagaacttcctg	11	10	1	3			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr22:27024279T>G	uc003acz.3	+	5	363	c.328T>G	c.(328-330)TTC>GTC	p.F110V		NM_001886	NP_001877	P53673	CRBA4_HUMAN	crystallin, beta A4	110	Beta/gamma crystallin 'Greek key' 3.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens				0						GCTGACAATCTTCGAGCAAGA	0.562													G	27024279	T	G	27024279	3	3	33	1	0	0	0	0	1	0	0	0	3909	1609	56	5	342	5	CRYBA4	22	27024279	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	913871	27024279	24280287	333	33757											
SYNGR1	9145	broad.mit.edu	37	chr22	39772142	39772142	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaggacaacccactgaaCgaagggacggacgcagcccg	12	15	0	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr22:39772142C>T	uc003axq.3	+	3	485	c.423C>T	c.(421-423)AAC>AAT	p.N141N	SYNGR1_uc003axo.3_Silent_p.N141N|SYNGR1_uc003axp.3_Nonsense_Mutation_p.R108*|TAB1_uc003axr.2_Silent_p.N67N|SYNGR1_uc003axs.3_Silent_p.N142N	NM_004711	NP_004702	O43759	SNG1_HUMAN	synaptogyrin 1 isoform 1a	141	MARVEL.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity	cell junction|integral to plasma membrane|melanosome					0	Melanoma(58;0.04)					ACCCACTGAACGAAGGGACGG	0.632													T	39772142	C	T	39772142	2	4	33	1	0	0	0	0	0	0	0	1	15445	535	19	1		1	SYNGR1	22	39772142	Silent	SNP	C	TCGA-BR-6458-01A-11D-1800-08	12747863	39772142	11532424	334	33758											
EFCAB6	64800	broad.mit.edu	37	chr22	44062988	44062988	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacccattctcctaccttcTtaaagtcatgcacgttaatt	3	12	3	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chr22:44062988T>G	uc003bdy.1	-	17	2194	c.1979A>C	c.(1978-1980)AAG>ACG	p.K660T	EFCAB6_uc003bdz.1_Missense_Mutation_p.K508T|EFCAB6_uc010gzi.1_Missense_Mutation_p.K508T|EFCAB6_uc010gzj.1_5'UTR|EFCAB6_uc010gzk.1_RNA	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	660	EF-hand 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				TCCTACCTTCTTAAAGTCATG	0.388													G	44062988	T	G	44062988	3	3	33	1	0	0	0	0	1	0	0	0	4939	1609	56	5	2590	5	EFCAB6	22	44062988	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	4290846	44062988	7241578	335	33759											
MAGEB4	4115	broad.mit.edu	37	chrX	30260841	30260841	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgcctggacccttccaAggaatgggcttctgatgcct	12	12	1	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chrX:30260841A>C	uc004dcb.2	+	1	673	c.589A>C	c.(589-591)AGG>CGG	p.R197R	MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	197	MAGE.									ovary(1)	1						GACCCTTCCAAGGAATGGGCT	0.522													C	30260841	A	C	30260841	2	2	33	1	0	0	0	0	0	0	0	1	9178	63	3	5		5	MAGEB4	23	30260841	Silent	SNP	A	TCGA-BR-6458-01A-11D-1800-08		30260841	125009719	336	33760											
FAM47A	158724	broad.mit.edu	37	chrX	34148536	34148536	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgatggattcttcatcAgctcccaggtctccagccca	7	15	4	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chrX:34148536A>G	uc004ddg.2	-	1	1893	c.1860T>C	c.(1858-1860)GCT>GCC	p.A620A		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	620										ovary(4)|central_nervous_system(1)	5						ATTCTTCATCAGCTCCCAGGT	0.438													G	34148536	A	G	34148536	2	3	33	1	0	0	0	0	0	0	0	1	5569	175	7	3		3	FAM47A	23	34148536	Silent	SNP	A	TCGA-BR-6458-01A-11D-1800-08	3887695	34148536	121122024	337	33761											
FAM133A	286499	broad.mit.edu	37	chrX	92964511	92964511	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgggcccaacaatccaAgattatctaaatcgaccaag	7	11	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chrX:92964511A>C	uc004efr.1	+	4	406	c.93A>C	c.(91-93)CAA>CAC	p.Q31H		NM_173698	NP_775969	Q8N9E0	F133A_HUMAN	hypothetical protein LOC286499	31											0						CAACAATCCAAGATTATCTAA	0.418													C	92964511	A	C	92964511	3	2	33	1	0	0	0	0	1	0	0	0	5443	69	3	5	95	5	FAM133A	23	92964511	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	58815975	92964511	62306049	338	33762											
PCDH19	57526	broad.mit.edu	37	chrX	99662240	99662240	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtagtagggcttggaaaaGtgcgggtggttgtcattttc	16	4	1	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chrX:99662240G>T	uc010nmz.2	-	1	3032	c.1356C>A	c.(1354-1356)CAC>CAA	p.H452Q	PCDH19_uc004efw.3_Missense_Mutation_p.H452Q|PCDH19_uc004efx.3_Missense_Mutation_p.H452Q	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	452	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						GCTTGGAAAAGTGCGGGTGGT	0.577													T	99662240	G	T	99662240	3	4	33	1	0	0	0	0	1	0	0	0	11514	1020	36	5	2114	5	PCDH19	23	99662240	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	6697729	99662240	55608320	339	33763											
GUCY2F	2986	broad.mit.edu	37	chrX	108684663	108684663	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtcttggggacctcccacTttggacctctgaggtaatct	11	11	3	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chrX:108684663T>G	uc004eod.3	-	7	1894	c.1618A>C	c.(1618-1620)AGT>CGT	p.S540R	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	540	Protein kinase.|Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						GACCTCCCACTTTGGACCTCT	0.433													G	108684663	T	G	108684663	3	3	33	1	0	0	0	0	1	0	0	0	6898	1609	56	5	1760	5	GUCY2F	23	108684663	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	9022423	108684663	46585897	340	33764											
TRPC5	7224	broad.mit.edu	37	chrX	111155770	111155770	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagacggaaggcagttaggaTggggtcctcacttgataagg	15	7	1	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chrX:111155770T>G	uc004epl.1	-	3	1568	c.649A>C	c.(649-651)ATC>CTC	p.I217L	TRPC5_uc004epm.1_Missense_Mutation_p.I217L	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	217	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						GCAGTTAGGATGGGGTCCTCA	0.552													G	111155770	T	G	111155770	3	3	33	1	0	0	0	0	1	0	0	0	16579	1464	51	5	2308	5	TRPC5	23	111155770	Missense_Mutation	SNP	T	TCGA-BR-6458-01A-11D-1800-08	2471107	111155770	44114790	341	33765											
SLITRK2	84631	broad.mit.edu	37	chrX	144906221	144906221	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agctgctgtatcaaaatattGctgagcgagtcaaggaactt	10	7	2	1			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chrX:144906221G>C	uc004fcd.2	+	5	3268	c.2278G>C	c.(2278-2280)GCT>CCT	p.A760P	SLITRK2_uc010nsp.2_Missense_Mutation_p.A760P|SLITRK2_uc010nso.2_Missense_Mutation_p.A760P|SLITRK2_uc011mwq.1_Missense_Mutation_p.A760P|SLITRK2_uc011mwr.1_Missense_Mutation_p.A760P|SLITRK2_uc011mws.1_Missense_Mutation_p.A760P|SLITRK2_uc004fcg.2_Missense_Mutation_p.A760P|SLITRK2_uc011mwt.1_Missense_Mutation_p.A760P|CXorf1_uc004fch.2_5'Flank	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	760	Cytoplasmic (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAAATATTGCTGAGCGAGT	0.488													C	144906221	G	C	144906221	3	2	33	1	0	0	0	0	1	0	0	0	14743	1319	46	5	2280	5	SLITRK2	23	144906221	Missense_Mutation	SNP	G	TCGA-BR-6458-01A-11D-1800-08	33750451	144906221	10364339	342	33766											
PASD1	139135	broad.mit.edu	37	chrX	150840247	150840247	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagccttgtgttgccttcaAccaggtatggaaaggctgtt	13	8	1	0			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chrX:150840247A>C	uc004fev.3	+	13	1765	c.1433A>C	c.(1432-1434)AAC>ACC	p.N478T		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	478						nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GTTGCCTTCAACCAGGTATGG	0.453													C	150840247	A	C	150840247	3	2	33	1	0	0	0	0	1	0	0	0	11471	43	2	5	1479	5	PASD1	23	150840247	Missense_Mutation	SNP	A	TCGA-BR-6458-01A-11D-1800-08	5934026	150840247	4430313	343	33767											
RPL10	6134	broad.mit.edu	37	chrX	153629051	153629051	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attgctccttagatccacatCtcaaagaagtggggcttcac	8	11	2	2			TCGA-BR-6458-01A-11D-1800-08	TCGA-BR-6458-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b302ae7-9c9a-487d-89d3-a56a33731aac	7c5c6cad-71b4-4020-a7db-e31898b12605	g.chrX:153629051C>T	uc004fkm.2	+	7	689	c.501C>T	c.(499-501)ATC>ATT	p.I167I	uc010nuv.1_5'Flank|RPL10_uc004fko.2_Missense_Mutation_p.S113F|RPL10_uc004fkn.1_Silent_p.I167I|RPL10_uc004fkp.1_3'UTR|RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron	NM_006013	NP_006004	P27635	RL10_HUMAN	ribosomal protein L10	167					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGATCCACATCTCAAAGAAGT	0.527													T	153629051	C	T	153629051	2	4	33	1	0	0	0	0	0	0	0	1	13554	903	32	4		4	RPL10	23	153629051	Silent	SNP	C	TCGA-BR-6458-01A-11D-1800-08	2788804	153629051	1641509	344	33768											
MIIP	60672	broad.mit.edu	37	chr1	12091805	12091805	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaatgcagatgctgcccccGaccccgacctggtcagtgcc	10	18	1	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr1:12091805G>A	uc001ato.1	+	10	1287	c.1107G>A	c.(1105-1107)CCG>CCA	p.P369P		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	invasion inhibitory protein 45	369										ovary(1)	1						TGCTGCCCCCGACCCCGACCT	0.652													A	12091805	G	A	12091805	2	1	34	1	0	0	0	0	0	0	0	1	9585	1045	37	1		1	MIIP	1	12091805	Silent	SNP	G	TCGA-BR-6563-01A-13D-2053-08		12091805	237158816	1	33769											
CSMD2	114784	broad.mit.edu	37	chr1	34006124	34006124	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcccttgtaagcaacttaCggaaacactgaggcagctct	10	11	1	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr1:34006124C>T	uc001bxn.1	-	59	9228	c.9199_splice	c.e59+1	p.P3067_splice	CSMD2_uc001bxm.1_Splice_Site_p.P3211_splice	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2							integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAGCAACTTACGGAAACACTG	0.582													T	34006124	C	T	34006124	5	4	34	1	0	0	0	0	0	0	1	0	3945	550	19	1	1307	1	CSMD2	1	34006124	Splice_Site	SNP	C	TCGA-BR-6563-01A-13D-2053-08	21914319	34006124	215244497	2	33770											
FLG	2312	broad.mit.edu	37	chr1	152275780	152275780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactgtcctggctaacactgGatccctggcgcctgcttctc	9	16	1	0			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr1:152275780G>A	uc001ezu.1	-	3	11618	c.11582C>T	c.(11581-11583)TCC>TTC	p.S3861F		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3861	Filaggrin 23.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTAACACTGGATCCCTGGCG	0.577									Ichthyosis				A	152275780	G	A	152275780	3	1	34	1	0	0	0	0	1	0	0	0	5922	1174	41	4	607	4	FLG	1	152275780	Missense_Mutation	SNP	G	TCGA-BR-6563-01A-13D-2053-08	118269656	152275780	96974841	3	33771											
FLG	2312	broad.mit.edu	37	chr1	152283700	152283700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgattgtttgtccttaCgagtttgtctgcttgcactt	8	10	1	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr1:152283700C>T	uc001ezu.1	-	3	3698	c.3662G>A	c.(3661-3663)CGT>CAT	p.R1221H	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1221	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTGTCCTTACGAGTTTGTCT	0.567									Ichthyosis				T	152283700	C	T	152283700	3	4	34	1	0	0	0	0	1	0	0	0	5922	536	19	1	8527	1	FLG	1	152283700	Missense_Mutation	SNP	C	TCGA-BR-6563-01A-13D-2053-08	7920	152283700	96966921	4	33772											
CNTN2	6900	broad.mit.edu	37	chr1	205039136	205039136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagatccgcagctacaaccGccgcggggatgggcccgaga	14	14	0	2			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr1:205039136G>A	uc001hbr.2	+	18	2647	c.2378G>A	c.(2377-2379)CGC>CAC	p.R793H	CNTN2_uc001hbq.1_Missense_Mutation_p.R684H|CNTN2_uc001hbs.2_Missense_Mutation_p.R581H	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	793	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGCTACAACCGCCGCGGGGAT	0.662													A	205039136	G	A	205039136	3	1	34	1	0	0	0	0	1	0	0	0	3641	1087	38	1	2444	1	CNTN2	1	205039136	Missense_Mutation	SNP	G	TCGA-BR-6563-01A-13D-2053-08	52755436	205039136	44211485	5	33773											
OBSCN	84033	broad.mit.edu	37	chr1	228399542	228399542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacccggcccaaggccttcGtggtgtcggtgggcaaggac	15	13	1	0			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr1:228399542G>A	uc009xez.1	+	2	102	c.58G>A	c.(58-60)GTG>ATG	p.V20M	OBSCN_uc001hsn.2_Missense_Mutation_p.V20M|uc001hsm.1_Intron	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	20	Ig-like 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CAAGGCCTTCGTGGTGTCGGT	0.677													A	228399542	G	A	228399542	3	1	34	1	0	0	0	0	1	0	0	0	10812	1145	40	1	60	1	OBSCN	1	228399542	Missense_Mutation	SNP	G	TCGA-BR-6563-01A-13D-2053-08	23360406	228399542	20851079	6	33774											
APOB	338	broad.mit.edu	37	chr2	21229930	21229930	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttttgggaacacatagccGaatgccgacatctctatggt	10	10	1	0	rs138010392	byFrequency	TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr2:21229930G>A	uc002red.2	-	26	9938	c.9810C>T	c.(9808-9810)TTC>TTT	p.F3270F		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3270					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACACATAGCCGAATGCCGACA	0.473													A	21229930	G	A	21229930	2	1	34	1	0	0	0	0	0	0	0	1	785	1049	37	1		1	APOB	2	21229930	Silent	SNP	G	TCGA-BR-6563-01A-13D-2053-08		21229930	221969443	7	33775											
HEATR5B	54497	broad.mit.edu	37	chr2	37289090	37289090	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atataattatacctaaagtcAtaagtgctccaagtaaaagc	5	7	1	0	rs147152129		TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr2:37289090A>T	uc002rpp.1	-	11	1784	c.1688T>A	c.(1687-1689)ATG>AAG	p.M563K		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	563							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				ACCTAAAGTCATAAGTGCTCC	0.373													T	37289090	A	T	37289090	3	4	34	1	0	0	0	0	1	0	0	0	7032	217	8	5	4631	5	HEATR5B	2	37289090	Missense_Mutation	SNP	A	TCGA-BR-6563-01A-13D-2053-08	16059160	37289090	205910283	8	33776											
GLI2	2736	broad.mit.edu	37	chr2	121712927	121712927	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtggcaggccaccccgcGccctacggggacctgctgat	13	17	0	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr2:121712927G>A	uc010flp.2	+	4	594	c.564G>A	c.(562-564)GCG>GCA	p.A188A	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_Silent_p.A63A|GLI2_uc002tmw.1_Silent_p.A188A	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	188					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				GCCACCCCGCGCCCTACGGGG	0.667													A	121712927	G	A	121712927	2	1	34	1	0	0	0	0	0	0	0	1	6438	1074	38	1		1	GLI2	2	121712927	Silent	SNP	G	TCGA-BR-6563-01A-13D-2053-08	84423837	121712927	121486446	9	33777											
PLCL1	5334	broad.mit.edu	37	chr2	198950136	198950136	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagtacccagaggattttgTtaattataataagaagttct	8	4	1	3			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr2:198950136T>G	uc010fsp.2	+	2	2186	c.1895T>G	c.(1894-1896)GTT>GGT	p.V632G	PLCL1_uc002uuv.3_Missense_Mutation_p.V553G	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	632	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	GAGGATTTTGTTAATTATAAT	0.378													G	198950136	T	G	198950136	3	3	34	1	0	0	0	0	1	0	0	0	12039	1725	60	5	1901	5	PLCL1	2	198950136	Missense_Mutation	SNP	T	TCGA-BR-6563-01A-13D-2053-08	77237209	198950136	44249237	10	33778											
RBMS3	27303	broad.mit.edu	37	chr3	29938904	29938904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtacagtattgcaaccaacCgcatgattccacagacatct	6	13	1	2			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr3:29938904C>T	uc003cel.2	+	9	1056	c.826C>T	c.(826-828)CGC>TGC	p.R276C	RBMS3_uc003cek.2_Missense_Mutation_p.R276C|RBMS3_uc010hfq.2_Missense_Mutation_p.R289C|RBMS3_uc003cem.2_Missense_Mutation_p.R275C|RBMS3_uc010hfr.2_Missense_Mutation_p.R276C	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	276						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				TGCAACCAACCGCATGATTCC	0.433													T	29938904	C	T	29938904	3	4	34	1	0	0	0	0	1	0	0	0	13150	652	23	1	903	1	RBMS3	3	29938904	Missense_Mutation	SNP	C	TCGA-BR-6563-01A-13D-2053-08		29938904	168083526	11	33779											
RHOA	387	broad.mit.edu	37	chr3	49405969	49405969	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccagctgtgtcccacaAagccaactctacctgtaatg	7	15	1	0			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr3:49405969A>C	uc003cwu.2	-	3	445	c.169T>G	c.(169-171)TTG>GTG	p.L57V	RHOA_uc010hku.2_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	57					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	GTGTCCCACAAAGCCAACTCT	0.463													C	49405969	A	C	49405969	3	2	34	1	0	0	0	0	1	0	0	0	13331	11	1	5	424	5	RHOA	3	49405969	Missense_Mutation	SNP	A	TCGA-BR-6563-01A-13D-2053-08	19467065	49405969	148616461	12	33780											
ADRA2C	152	broad.mit.edu	37	chr4	3769558	3769558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcctgtacggcatctgcCgcgaggcctgccaggtgccc	13	16	1	0			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr4:3769558C>T	uc003ghm.2	+	1	1263	c.1225C>T	c.(1225-1227)CGC>TGC	p.R409C	ADRA2C_uc010icx.2_Intron	NM_000683	NP_000674	P18825	ADA2C_HUMAN	alpha-2C-adrenergic receptor	409	Extracellular (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CGGCATCTGCCGCGAGGCCTG	0.597													T	3769558	C	T	3769558	3	4	34	1	0	0	0	0	1	0	0	0	339	652	23	1	1227	1	ADRA2C	4	3769558	Missense_Mutation	SNP	C	TCGA-BR-6563-01A-13D-2053-08		3769558	187384718	13	33781											
TECRL	253017	broad.mit.edu	37	chr4	65188509	65188509	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtccttcaaaaaaggcccGcctaaaataaaaataacaag	5	9	1	0			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr4:65188509G>A	uc003hcv.2	-	4	442	c.333C>T	c.(331-333)GGC>GGT	p.G111G	TECRL_uc003hcw.2_Silent_p.G111G	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	111					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0						AAAAAGGCCCGCCtaaaataa	0.308													A	65188509	G	A	65188509	2	1	34	1	0	0	0	0	0	0	0	1	15743	1101	38	1		1	TECRL	4	65188509	Silent	SNP	G	TCGA-BR-6563-01A-13D-2053-08	61418951	65188509	125965767	14	33782											
TBCK	93627	broad.mit.edu	37	chr4	107154126	107154126	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagatcaggatgagacacTacccaggcttttaatacacg	8	10	1	2	rs55956749	byFrequency	TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr4:107154126T>G	uc010ilv.2	-	17	1973	c.1608A>C	c.(1606-1608)GTA>GTC	p.V536V	TBCK_uc003hyb.2_Silent_p.V279V|TBCK_uc003hye.2_Silent_p.V497V|TBCK_uc003hyc.2_Silent_p.V473V|TBCK_uc003hyd.2_Silent_p.V364V|TBCK_uc003hyf.2_Silent_p.V536V	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	536	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						GATGAGACACTACCCAGGCTT	0.368													G	107154126	T	G	107154126	2	3	34	1	0	0	0	0	0	0	0	1	15633	1509	53	5		5	TBCK	4	107154126	Silent	SNP	T	TCGA-BR-6563-01A-13D-2053-08	41965617	107154126	84000150	15	33783											
FAT4	79633	broad.mit.edu	37	chr4	126412194	126412194	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcatggtgacacctgccaAcctggcattttcaactatgc	8	12	1	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr4:126412194A>C	uc003ifj.3	+	17	14217	c.14217A>C	c.(14215-14217)CAA>CAC	p.Q4739H	FAT4_uc011cgp.1_Missense_Mutation_p.Q2980H|FAT4_uc003ifi.1_Missense_Mutation_p.Q2216H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4739	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ACACCTGCCAACCTGGCATTT	0.483													C	126412194	A	C	126412194	3	2	34	1	0	0	0	0	1	0	0	0	5692	40	2	5	14283	5	FAT4	4	126412194	Missense_Mutation	SNP	A	TCGA-BR-6563-01A-13D-2053-08	19258068	126412194	64742082	16	33784											
FSTL5	56884	broad.mit.edu	37	chr4	162307467	162307467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagccaatgaagtagtagCctcccaagtgtgtatatgcc	10	10	0	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr4:162307467C>T	uc003iqh.2	-	16	2412	c.1976G>A	c.(1975-1977)GGC>GAC	p.G659D	FSTL5_uc003iqi.2_Missense_Mutation_p.G658D|FSTL5_uc010iqv.2_Missense_Mutation_p.G649D|uc010iqu.1_RNA	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	659						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GAAGTAGTAGCCTCCCAAGTG	0.438													T	162307467	C	T	162307467	3	4	34	1	0	0	0	0	1	0	0	0	6080	739	26	2	571	2	FSTL5	4	162307467	Missense_Mutation	SNP	C	TCGA-BR-6563-01A-13D-2053-08	35895273	162307467	28846809	17	33785											
C5orf42	65250	broad.mit.edu	37	chr5	37201824	37201824	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagttgaaatgtctccgaaaGaatatctgcatcggccataa	8	8	2	2			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr5:37201824G>A	uc011cpa.1	-	19	3607	c.3376C>T	c.(3376-3378)CTT>TTT	p.L1126F	C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.L201F|C5orf42_uc011cpb.1_Missense_Mutation_p.L7F	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1126										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)			GTCTCCGAAAGAATATCTGCA	0.418													A	37201824	G	A	37201824	3	1	34	1	0	0	0	0	1	0	0	0	2301	942	33	4	6353	4	C5orf42	5	37201824	Missense_Mutation	SNP	G	TCGA-BR-6563-01A-13D-2053-08		37201824	143713436	18	33786											
APC	324	broad.mit.edu	37	chr5	112174605	112174605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttctccatacaggtcacGgggagccaatggttcagaaa	11	9	3	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr5:112174605G>A	uc010jby.2	+	16	3694	c.3314G>A	c.(3313-3315)CGG>CAG	p.R1105Q	APC_uc011cvt.1_Missense_Mutation_p.R1087Q|APC_uc003kpz.3_Missense_Mutation_p.R1105Q|APC_uc003kpy.3_Missense_Mutation_p.R1105Q|APC_uc010jbz.2_Missense_Mutation_p.R822Q|APC_uc010jca.2_Missense_Mutation_p.R405Q	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1105	Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TACAGGTCACGGGGAGCCAAT	0.398		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			A	112174605	G	A	112174605	3	1	34	1	0	0	0	0	1	0	0	0	763	1116	39	1	3372	1	APC	5	112174605	Missense_Mutation	SNP	G	TCGA-BR-6563-01A-13D-2053-08	74972781	112174605	68740655	19	33787											
DMXL1	1657	broad.mit.edu	37	chr5	118533559	118533559	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggccacctcaaaattaTatcgcaagtcataccgccga	9	12	2	0			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr5:118533559T>A	uc003ksd.2	+	32	7834	c.7653T>A	c.(7651-7653)TAT>TAA	p.Y2551*	DMXL1_uc010jcl.1_Nonsense_Mutation_p.Y2551*	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2551										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CTCAAAATTATATCGCAAGTC	0.438													A	118533559	T	A	118533559	4	1	34	1	0	0	0	0	0	1	0	0	4594	1413	49	5	7779	5	DMXL1	5	118533559	Nonsense_Mutation	SNP	T	TCGA-BR-6563-01A-13D-2053-08	6358954	118533559	62381701	20	33788											
TIFAB	497189	broad.mit.edu	37	chr5	134785162	134785162	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctaccctgaaccagggggAggctgcccctgggagatgcc	15	13	0	2			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr5:134785162A>G	uc003law.3	-	2	669	c.468T>C	c.(466-468)CCT>CCC	p.P156P	C5orf20_uc003lav.2_5'Flank	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	TIFA-related protein TIFAB	156											0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AACCAGGGGGAGGCTGCCCCT	0.582													G	134785162	A	G	134785162	2	3	34	1	0	0	0	0	0	0	0	1	15892	291	11	3		3	TIFAB	5	134785162	Silent	SNP	A	TCGA-BR-6563-01A-13D-2053-08	16251603	134785162	46130098	21	33789											
PCDHA13	56136	broad.mit.edu	37	chr5	140261955	140261955	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggccagctccactactcCgtccccgaggaagcaaaaca	9	15	0	0			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr5:140261955C>T	uc003lif.2	+	1	102	c.102C>T	c.(100-102)TCC>TCT	p.S34S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.S34S|PCDHA13_uc003lid.2_Silent_p.S34S	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	34	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACTACTCCGTCCCCGAGG	0.662													T	140261955	C	T	140261955	2	4	34	1	0	0	0	0	0	0	0	1	11523	639	23	1		1	PCDHA13	5	140261955	Silent	SNP	C	TCGA-BR-6563-01A-13D-2053-08	5476793	140261955	40653305	22	33790											
EYS	346007	broad.mit.edu	37	chr6	66200566	66200566	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatggaaacagacatgtggTtgacactggccaattatttc	9	9	0	2			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr6:66200566T>C	uc011dxu.1	-	5	1321	c.783A>G	c.(781-783)CAA>CAG	p.Q261Q	EYS_uc003peq.2_Silent_p.Q261Q|EYS_uc003per.1_Silent_p.Q261Q|EYS_uc010kaj.1_RNA	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	261	EGF-like 3.				response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						AGACATGTGGTTGACACTGGC	0.308													C	66200566	T	C	66200566	2	2	34	1	0	0	0	0	0	0	0	1	5332	1722	60	3		3	EYS	6	66200566	Silent	SNP	T	TCGA-BR-6563-01A-13D-2053-08		66200566	104914501	23	33791											
EPHA7	2045	broad.mit.edu	37	chr6	93956675	93956675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccatgggtgctggtaaaCgataaccttcttctattgct	9	9	2	0			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr6:93956675C>T	uc003poe.2	-	15	2802	c.2561G>A	c.(2560-2562)CGT>CAT	p.R854H	EPHA7_uc003pof.2_Missense_Mutation_p.R849H|EPHA7_uc011eac.1_Missense_Mutation_p.R850H	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	854	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGCTGGTAAACGATAACCTTC	0.388													T	93956675	C	T	93956675	3	4	34	1	0	0	0	0	1	0	0	0	5172	536	19	1	447	1	EPHA7	6	93956675	Missense_Mutation	SNP	C	TCGA-BR-6563-01A-13D-2053-08	27756109	93956675	77158392	24	33792											
RSPO3	84870	broad.mit.edu	37	chr6	127471624	127471624	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatttctgcacaaaatgtAaaagtggattttacttacac	5	6	1	0			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr6:127471624A>C	uc003qar.2	+	3	633	c.343A>C	c.(343-345)AAA>CAA	p.K115Q	RSPO3_uc003qas.1_Missense_Mutation_p.K115Q	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	R-spondin 3 precursor	115	FU 2.					extracellular region	heparin binding				0				GBM - Glioblastoma multiforme(226;0.0555)		CACAAAATGTAAAAGTGGATT	0.368													C	127471624	A	C	127471624	3	2	34	1	0	0	0	0	1	0	0	0	13711	363	13	5	353	5	RSPO3	6	127471624	Missense_Mutation	SNP	A	TCGA-BR-6563-01A-13D-2053-08	33514949	127471624	43643443	25	33793											
SYNJ2	8871	broad.mit.edu	37	chr6	158516672	158516672	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcaccggaagaacagtTtgagcaacagactgtccatt	9	11	1	3			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr6:158516672T>G	uc003qqx.1	+	27	3842	c.3767T>G	c.(3766-3768)TTT>TGT	p.F1256C	SYNJ2_uc003qqy.1_Missense_Mutation_p.F969C|SYNJ2_uc003qqz.1_Missense_Mutation_p.F873C|SYNJ2_uc003qra.1_Missense_Mutation_p.F599C|SYNJ2_uc010kjp.1_Missense_Mutation_p.F139C	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	1256	Catalytic (By similarity).|Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GAAGAACAGTTTGAGCAACAG	0.537													G	158516672	T	G	158516672	3	3	34	1	0	0	0	0	1	0	0	0	15450	1841	64	5	3873	5	SYNJ2	6	158516672	Missense_Mutation	SNP	T	TCGA-BR-6563-01A-13D-2053-08	31045048	158516672	12598395	26	33794											
WDR27	253769	broad.mit.edu	37	chr6	170068234	170068234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggtggtgggactttgtgGcggttattaacatcaggacg	16	6	1	0			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr6:170068234G>A	uc003qwx.2	-	5	1024	c.504C>T	c.(502-504)CGC>CGT	p.R168R	WDR27_uc010kkw.1_Silent_p.R168R|WDR27_uc003qwy.2_Intron|WDR27_uc011egw.1_Intron			A2RRH5	WDR27_HUMAN	RecName: Full=WD repeat-containing protein 27;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										pancreas(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GGACTTTGTGGCGGTTATTAA	0.502													A	170068234	G	A	170068234	2	1	34	1	0	0	0	0	0	0	0	1	17281	1190	42	2		2	WDR27	6	170068234	Silent	SNP	G	TCGA-BR-6563-01A-13D-2053-08	11551562	170068234	1046833	27	33795											
DLGAP2	9228	broad.mit.edu	37	chr8	1497743	1497743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctcctggtctacgctgaCggtcagccaggccaaggagg	14	13	2	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr8:1497743C>T	uc003wpl.2	+	2	981	c.884C>T	c.(883-885)ACG>ATG	p.T295M	DLGAP2_uc003wpm.2_Missense_Mutation_p.T295M	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	374					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TCTACGCTGACGGTCAGCCAG	0.652													T	1497743	C	T	1497743	3	4	34	1	0	0	0	0	1	0	0	0	4560	536	19	1	886	1	DLGAP2	8	1497743	Missense_Mutation	SNP	C	TCGA-BR-6563-01A-13D-2053-08		1497743	144866279	28	33796											
ANK1	286	broad.mit.edu	37	chr8	41577290	41577290	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggtccagggtgatgtcGtctatctctgcgtcgtattg	14	8	2	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr8:41577290G>A	uc003xok.2	-	10	1080	c.996C>T	c.(994-996)GAC>GAT	p.D332D	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.D332D|ANK1_uc003xoj.2_Silent_p.D332D|ANK1_uc003xol.2_Silent_p.D332D|ANK1_uc003xom.2_Silent_p.D365D	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	332	ANK 9.|89 kDa domain.		D -> H (in a breast cancer sample; somatic mutation).		axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.D332H(1)		ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGGTGATGTCGTCTATCTCTG	0.587													A	41577290	G	A	41577290	2	1	34	1	0	0	0	0	0	0	0	1	620	1136	40	1		1	ANK1	8	41577290	Silent	SNP	G	TCGA-BR-6563-01A-13D-2053-08	40079547	41577290	104786732	29	33797											
TRPS1	7227	broad.mit.edu	37	chr8	116632246	116632246	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatctggccctcgccttcacTtgcaacgtttctcagagggg	11	13	3	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr8:116632246T>C	uc003ynz.2	-	2	499	c.40A>G	c.(40-42)AGT>GGT	p.S14G	TRPS1_uc011lhy.1_Missense_Mutation_p.S18G|TRPS1_uc003yny.2_Missense_Mutation_p.S27G|TRPS1_uc010mcy.2_Missense_Mutation_p.S14G	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	14					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCGCCTTCACTTGCAACGTTT	0.433									Langer-Giedion_syndrome				C	116632246	T	C	116632246	3	2	34	1	0	0	0	0	1	0	0	0	16590	1609	56	3	3825	3	TRPS1	8	116632246	Missense_Mutation	SNP	T	TCGA-BR-6563-01A-13D-2053-08	75054956	116632246	29731776	30	33798											
GPR21	2844	broad.mit.edu	37	chr9	125797424	125797424	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgactcctacttcaccctGttcatcgtgatgatgttata	6	12	2	2			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr9:125797424G>A	uc011lzk.1	+	1	579	c.579G>A	c.(577-579)CTG>CTA	p.L193L	RABGAP1_uc004bnl.3_Intron|RABGAP1_uc011lzh.1_Intron|RABGAP1_uc011lzj.1_Intron|GPR21_uc011lzi.1_RNA	NM_005294	NP_005285	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	193	Helical; Name=5; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1						ACTTCACCCTGTTCATCGTGA	0.498													A	125797424	G	A	125797424	2	1	34	1	0	0	0	0	0	0	0	1	6681	1364	48	4		4	GPR21	9	125797424	Silent	SNP	G	TCGA-BR-6563-01A-13D-2053-08		125797424	15416007	31	33799											
FAM78A	286336	broad.mit.edu	37	chr9	134136226	134136226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcaccggtgcttgggcgGgatcaccaccagcggctgcc	14	15	2	0			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr9:134136226G>A	uc004cak.2	-	2	1175	c.835C>T	c.(835-837)CCG>TCG	p.P279S	FAM78A_uc004caj.2_Missense_Mutation_p.P276S	NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN	hypothetical protein LOC286336	279										ovary(1)	1	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		TGCTTGGGCGGGATCACCACC	0.577													A	134136226	G	A	134136226	3	1	34	1	0	0	0	0	1	0	0	0	5626	1232	43	4	20	4	FAM78A	9	134136226	Missense_Mutation	SNP	G	TCGA-BR-6563-01A-13D-2053-08	8338802	134136226	7077205	32	33800											
SURF6	6838	broad.mit.edu	37	chr9	136199499	136199499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcctggccttctctttcGcccgcagctcctttcgcttc	6	19	1	0			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr9:136199499G>A	uc004cdb.3	-	4	569	c.491C>T	c.(490-492)GCG>GTG	p.A164V		NM_006753	NP_006744	O75683	SURF6_HUMAN	surfeit 6	164						granular component	DNA binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		CTTCTCTTTCGCCCGCAGCTC	0.687													A	136199499	G	A	136199499	3	1	34	1	0	0	0	0	1	0	0	0	15403	1087	38	1	602	1	SURF6	9	136199499	Missense_Mutation	SNP	G	TCGA-BR-6563-01A-13D-2053-08	2063273	136199499	5013932	33	33801											
SLC34A3	142680	broad.mit.edu	37	chr9	140130470	140130470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtacctggtgcctgcactgCggctgcccatcccgctggcc	13	17	0	0	rs121918238		TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr9:140130470C>T	uc004cmf.1	+	13	1588	c.1402C>T	c.(1402-1404)CGG>TGG	p.R468W	SLC34A3_uc011met.1_Missense_Mutation_p.R468W	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	solute carrier family 34 (sodium phosphate),	468	Cytoplasmic (Potential).		R -> W (in HHRH).		cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCTGCACTGCGGCTGCCCAT	0.692											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	140130470	C	T	140130470	3	4	34	1	0	0	0	0	1	0	0	0	14569	759	27	1	1448	1	SLC34A3	9	140130470	Missense_Mutation	SNP	C	TCGA-BR-6563-01A-13D-2053-08	3930971	140130470	1082961	34	33802											
CAMK1D	57118	broad.mit.edu	37	chr10	12866468	12866468	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttgcctctgtttcaggatcGctggtgacacagccctcaac	9	13	3	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr10:12866468G>C	uc001ilo.2	+	9	1073	c.838G>C	c.(838-840)GCT>CCT	p.A280P	CAMK1D_uc001iln.2_Missense_Mutation_p.A280P	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	280	Autoinhibitory domain (By similarity).					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)|stomach(1)	2				GBM - Glioblastoma multiforme(1;3.16e-05)		TTTCAGGATCGCTGGTGACAC	0.527													C	12866468	G	C	12866468	3	2	34	1	0	0	0	0	1	0	0	0	2597	1087	38	5	872	5	CAMK1D	10	12866468	Missense_Mutation	SNP	G	TCGA-BR-6563-01A-13D-2053-08		12866468	122668279	35	33803											
MYO3A	53904	broad.mit.edu	37	chr10	26241113	26241113	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatacatgggaaatcactgAgacaattggcaaaggaactt	10	6	1	2			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr10:26241113A>C	uc001isn.2	+	3	434	c.74A>C	c.(73-75)GAG>GCG	p.E25A	MYO3A_uc009xko.1_Missense_Mutation_p.E25A|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.E25A|MYO3A_uc001ism.2_Missense_Mutation_p.E25A	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	25	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.E25_I27>I(1)		ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						GAAATCACTGAGACAATTGGC	0.328													C	26241113	A	C	26241113	3	2	34	1	0	0	0	0	1	0	0	0	10076	304	11	5	76	5	MYO3A	10	26241113	Missense_Mutation	SNP	A	TCGA-BR-6563-01A-13D-2053-08	13374645	26241113	109293634	36	33804											
EXOSC1	51013	broad.mit.edu	37	chr10	99196244	99196244	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgtactcgggctactttccgGaattctttagtgtgggtctt	11	8	2	0			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr10:99196244G>C	uc001kni.2	-	8	572	c.546C>G	c.(544-546)TTC>TTG	p.F182L	EXOSC1_uc009xvp.1_RNA	NM_016046	NP_057130	Q9Y3B2	EXOS1_HUMAN	exosomal core protein CSL4	182					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	protein binding|RNA binding				0		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		CTACTTTCCGGAATTCTTTAG	0.507													C	99196244	G	C	99196244	3	2	34	1	0	0	0	0	1	0	0	0	5313	1165	41	5	45	5	EXOSC1	10	99196244	Missense_Mutation	SNP	G	TCGA-BR-6563-01A-13D-2053-08	72955131	99196244	36338503	37	33805											
HBG1	3047	broad.mit.edu	37	chr11	5269648	5269648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatcttctgccaggaagCctgcacctcaggggtgaatt	10	13	3	1	rs41330850		TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr11:5269648C>T	uc001mah.1	-	3	438	c.385G>A	c.(385-387)GCT>ACT	p.A129T	HBG2_uc001mai.1_Missense_Mutation_p.A129T	NM_000559	NP_000550	P69891	HBG1_HUMAN	A-gamma globin	129			A -> T (in Baskent).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding				0		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCAGGAAGCCTGCACCTCA	0.502													T	5269648	C	T	5269648	3	4	34	1	0	0	0	0	1	0	0	0	6982	739	26	2	62	2	HBG1	11	5269648	Missense_Mutation	SNP	C	TCGA-BR-6563-01A-13D-2053-08		5269648	129736868	38	33806											
OR10A4	283297	broad.mit.edu	37	chr11	6898750	6898750	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgttgaaccccatcatctAcagctcaaggaataaagaag	7	10	3	2			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr11:6898750A>G	uc010rat.1	+	1	872	c.872A>G	c.(871-873)TAC>TGC	p.Y291C		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A,	291	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCCATCATCTACAGCTCAAGG	0.502													G	6898750	A	G	6898750	3	3	34	1	0	0	0	0	1	0	0	0	10892	391	14	3	874	3	OR10A4	11	6898750	Missense_Mutation	SNP	A	TCGA-BR-6563-01A-13D-2053-08	1629102	6898750	128107766	39	33807											
RBM7	10179	broad.mit.edu	37	chr11	114273598	114273598	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcatatccccaacatcAtgttggaaattcaagcccta	5	11	3	0			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr11:114273598A>G	uc001pov.2	+	3	318	c.308A>G	c.(307-309)CAT>CGT	p.H103R	C11orf71_uc001pot.1_5'Flank|C11orf71_uc001pou.3_5'Flank|RBM7_uc001pow.2_Missense_Mutation_p.H103R|RBM7_uc001pox.2_5'UTR	NM_016090	NP_057174	Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	103					meiosis		nucleotide binding|protein binding|RNA binding			ovary(2)	2		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		CCCCAACATCATGTTGGAAAT	0.338													G	114273598	A	G	114273598	3	3	34	1	0	0	0	0	1	0	0	0	13145	217	8	3	318	3	RBM7	11	114273598	Missense_Mutation	SNP	A	TCGA-BR-6563-01A-13D-2053-08	107374848	114273598	20732918	40	33808											
POU2F3	25833	broad.mit.edu	37	chr11	120168982	120168982	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccacttgcagattaaaacCgaagatctcagtgactccct	6	12	1	3	rs139585451		TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr11:120168982C>T	uc001pxc.2	+	4	243	c.141C>T	c.(139-141)ACC>ACT	p.T47T	POU2F3_uc010rzk.1_5'UTR|POU2F3_uc010rzl.1_5'UTR	NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN	POU transcription factor	47					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			ovary(1)|skin(1)	2		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		AGATTAAAACCGAAGATCTCA	0.542													T	120168982	C	T	120168982	2	4	34	1	0	0	0	0	0	0	0	1	12273	639	23	1		1	POU2F3	11	120168982	Silent	SNP	C	TCGA-BR-6563-01A-13D-2053-08	5895384	120168982	14837534	41	33809											
GRIK4	2900	broad.mit.edu	37	chr11	120702685	120702685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatccgggacgacaagacCgccaccatcatcatccacgc	9	16	2	2	rs148308915	byFrequency	TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr11:120702685C>T	uc001pxn.2	+	7	923	c.636C>T	c.(634-636)ACC>ACT	p.T212T	GRIK4_uc009zav.1_Silent_p.T212T|GRIK4_uc009zaw.1_Silent_p.T212T|GRIK4_uc009zax.1_Silent_p.T212T	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	212	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	ACGACAAGACCGCCACCATCA	0.637													T	120702685	C	T	120702685	2	4	34	1	0	0	0	0	0	0	0	1	6776	639	23	1		1	GRIK4	11	120702685	Silent	SNP	C	TCGA-BR-6563-01A-13D-2053-08	533703	120702685	14303831	42	33810											
PTPN6	5777	broad.mit.edu	37	chr12	7065608	7065608	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctaggccctgatgagaaCgctaagacctacatcgccag	10	13	0	3			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr12:7065608C>T	uc001qsb.2	+	9	1193	c.951C>T	c.(949-951)AAC>AAT	p.N317N	PTPN6_uc001qsa.1_Silent_p.N319N|PTPN6_uc010sfr.1_Silent_p.N278N|PTPN6_uc009zfl.1_Silent_p.N317N|PTPN6_uc010sfs.1_Silent_p.N305N	NM_002831	NP_002822	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type	317	Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)	1						CTGATGAGAACGCTAAGACCT	0.607													T	7065608	C	T	7065608	2	4	34	1	0	0	0	0	0	0	0	1	12792	535	19	1		1	PTPN6	12	7065608	Silent	SNP	C	TCGA-BR-6563-01A-13D-2053-08		7065608	126786287	43	33811											
ERBB3	2065	broad.mit.edu	37	chr12	56489547	56489547	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctactggcgtgggcgccggaTtcagaataaaagggctatga	14	8	1	2			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr12:56489547T>A	uc001sjh.2	+	17	2205	c.2012T>A	c.(2011-2013)ATT>AAT	p.I671N	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Missense_Mutation_p.I28N|ERBB3_uc010sqc.1_Missense_Mutation_p.I612N|ERBB3_uc009zok.2_Missense_Mutation_p.I113N|ERBB3_uc001sjk.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	671	Cytoplasmic (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGGCGCCGGATTCAGAATAAA	0.453													A	56489547	T	A	56489547	3	1	34	1	0	0	0	0	1	0	0	0	5208	1493	52	5	2209	5	ERBB3	12	56489547	Missense_Mutation	SNP	T	TCGA-BR-6563-01A-13D-2053-08	49423939	56489547	77362348	44	33812											
SDR9C7	121214	broad.mit.edu	37	chr12	57323335	57323335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaaagtagtagagctcaCgcctgggaaagaagagttgc	12	10	1	3	rs141626978		TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr12:57323335C>T	uc010sqw.1	-	3	563	c.563G>A	c.(562-564)CGT>CAT	p.R188H		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C,	188						cytoplasm	binding|oxidoreductase activity			central_nervous_system(1)	1						GTAGAGCTCACGCCTGGGAAA	0.532													T	57323335	C	T	57323335	3	4	34	1	0	0	0	0	1	0	0	0	13974	536	19	1	386	1	SDR9C7	12	57323335	Missense_Mutation	SNP	C	TCGA-BR-6563-01A-13D-2053-08	833788	57323335	76528560	45	33813											
DAO	1610	broad.mit.edu	37	chr12	109286789	109286789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagtgaagttcttccagCggaaagtggagtcttttgag	16	5	2	2			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr12:109286789C>T	uc001tnr.3	+	6	637	c.484C>T	c.(484-486)CGG>TGG	p.R162W	DAO_uc001tnq.3_Intron|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	NM_001917	NP_001908	P14920	OXDA_HUMAN	D-amino-acid oxidase	162					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			ovary(1)|skin(1)	2						GTTCTTCCAGCGGAAAGTGGA	0.557													T	109286789	C	T	109286789	3	4	34	1	0	0	0	0	1	0	0	0	4231	759	27	1	502	1	DAO	12	109286789	Missense_Mutation	SNP	C	TCGA-BR-6563-01A-13D-2053-08	51963454	109286789	24565106	46	33814											
ACAD10	80724	broad.mit.edu	37	chr12	112140003	112140003	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtatcccttctggaactatAttaaaggccttgatggaagg	10	8	1	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr12:112140003A>G	uc001tsq.2	+	3	425	c.225A>G	c.(223-225)ATA>ATG	p.I75M	ACAD10_uc009zvw.2_Missense_Mutation_p.I75M|ACAD10_uc001tso.3_Missense_Mutation_p.I75M|ACAD10_uc001tsp.2_Missense_Mutation_p.I75M|ACAD10_uc009zvx.2_Missense_Mutation_p.I75M	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	75							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						CTGGAACTATATTAAAGGCCT	0.413													G	112140003	A	G	112140003	3	3	34	1	0	0	0	0	1	0	0	0	108	439	16	3	231	3	ACAD10	12	112140003	Missense_Mutation	SNP	A	TCGA-BR-6563-01A-13D-2053-08	2853214	112140003	21711892	47	33815											
ZNF605	100289635	broad.mit.edu	37	chr12	133501996	133501996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgatgtatcataagctgcGacttcctgttgaaggtggtc	11	8	2	2			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr12:133501996G>A	uc001ulh.2	-	5	2214	c.1889C>T	c.(1888-1890)TCG>TTG	p.S630L	ZNF605_uc001uli.2_Missense_Mutation_p.S661L|ZNF605_uc001ulj.2_Missense_Mutation_p.S630L	NM_183238	NP_899061	Q86T29	ZN605_HUMAN	zinc finger protein 605 isoform 1	630	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		CATAAGCTGCGACTTCCTGTT	0.383													A	133501996	G	A	133501996	3	1	34	1	0	0	0	0	1	0	0	0	18028	1059	37	1	40	1	ZNF605	12	133501996	Missense_Mutation	SNP	G	TCGA-BR-6563-01A-13D-2053-08	21361993	133501996	349899	48	33816											
KLHL1	57626	broad.mit.edu	37	chr13	70314635	70314635	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccactgtattcagatagcTccagccatcatggcctccca	6	15	2	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr13:70314635T>C	uc001vip.2	-	8	2487	c.1693A>G	c.(1693-1695)AGC>GGC	p.S565G	KLHL1_uc010thm.1_Missense_Mutation_p.S504G	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	565	Kelch 3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTCAGATAGCTCCAGCCATCA	0.383													C	70314635	T	C	70314635	3	2	34	1	0	0	0	0	1	0	0	0	8365	1551	54	3	569	3	KLHL1	13	70314635	Missense_Mutation	SNP	T	TCGA-BR-6563-01A-13D-2053-08		70314635	44855243	49	33817											
SALL2	6297	broad.mit.edu	37	chr14	21993502	21993506	+	Frame_Shift_Del	DEL	CTCCT	CTCCT	-													accaggaaatgccctggagaCtcctctcctctcctctctgg							TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr14:21993501_21993505ACTCCT>A	uc001wbe.3	-	1	639_643	c.357_361AGGAGT>T	c.(355-363)gaggagtctfs	p.E119fs	SALL2_uc010tly.2_Frame_Shift_Del_p.E117fs|SALL2_uc010tlz.1_Frame_Shift_Del_p.E117fs|SALL2_uc001wbf.3_Frame_Shift_Del_p.E117fs|SALL2_uc010tma.1_Frame_Shift_Del_p.E119fs|SALL2_uc001wbg.1_Frame_Shift_Del_p.E119fs	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	119							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGCCCTGGAGACTCCTCTCCTCTCC	0.624													-	21993506	CTCCT	-	21993502	7	5	34	1	0	1	0	1	0	0	0	0	13811	564	20	0	2667	0	SALL2	14	21993502	Frame_Shift_Del	DEL	CTCCT	TCGA-BR-6563-01A-13D-2053-08		21993502	85356038	50	33818											
RALGAPA1	253959	broad.mit.edu	37	chr14	36143463	36143463	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtcaggttatcagttgAaatgccaaggttatctctaa	11	6	3	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr14:36143463A>C	uc001wti.2	-	23	3713	c.3322T>G	c.(3322-3324)TCA>GCA	p.S1108A	RALGAPA1_uc010amp.2_5'Flank|RALGAPA1_uc001wtj.2_Missense_Mutation_p.S1108A|RALGAPA1_uc010tpv.1_Missense_Mutation_p.S1121A|RALGAPA1_uc010tpw.1_Missense_Mutation_p.S1155A	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	1108					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						TTATCAGTTGAAATGCCAAGG	0.323													C	36143463	A	C	36143463	3	2	34	1	0	0	0	0	1	0	0	0	13013	246	9	5	3013	5	RALGAPA1	14	36143463	Missense_Mutation	SNP	A	TCGA-BR-6563-01A-13D-2053-08	14149961	36143463	71206077	51	33819											
RIN3	79890	broad.mit.edu	37	chr14	93118183	93118183	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgcacgccctttgccGcccacctctgatgccacctc	7	21	1	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr14:93118183G>A	uc001yap.2	+	6	941	c.789G>A	c.(787-789)CCG>CCA	p.P263P	RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Silent_p.P188P|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	263	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				GCCCTTTGCCGCCCACCTCTG	0.453													A	93118183	G	A	93118183	2	1	34	1	0	0	0	0	0	0	0	1	13373	1074	38	1		1	RIN3	14	93118183	Silent	SNP	G	TCGA-BR-6563-01A-13D-2053-08	56974720	93118183	14231357	52	33820											
CAPN3	825	broad.mit.edu	37	chr15	42652189	42652189	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaagagaagacattcgaGcaacttcacaagaaatgtct	9	7	2	4			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr15:42652189G>A	uc001zpn.1	+	1	492	c.186G>A	c.(184-186)GAG>GAA	p.E62E	CAPN3_uc001zpk.1_Intron|CAPN3_uc001zpl.1_Intron|CAPN3_uc010udf.1_Intron|CAPN3_uc010udg.1_Intron|CAPN3_uc001zpo.1_Silent_p.E62E|CAPN3_uc001zpp.1_Silent_p.E62E	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	62					muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AGACATTCGAGCAACTTCACA	0.473													A	42652189	G	A	42652189	2	1	34	1	0	0	0	0	0	0	0	1	2628	962	34	2		2	CAPN3	15	42652189	Silent	SNP	G	TCGA-BR-6563-01A-13D-2053-08		42652189	59879203	53	33821											
LOXL1	4016	broad.mit.edu	37	chr15	74239441	74239441	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggacgagttcagccactaCgacctactggatgcagccac	10	13	1	0			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr15:74239441C>T	uc002awc.1	+	4	1719	c.1383C>T	c.(1381-1383)TAC>TAT	p.Y461Y	LOXL1_uc002awd.1_5'Flank	NM_005576	NP_005567	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1 preproprotein	461	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding				0						TCAGCCACTACGACCTACTGG	0.592													T	74239441	C	T	74239441	2	4	34	1	0	0	0	0	0	0	0	1	8899	547	19	1		1	LOXL1	15	74239441	Silent	SNP	C	TCGA-BR-6563-01A-13D-2053-08	31587252	74239441	28291951	54	33822											
ZNF710	374655	broad.mit.edu	37	chr15	90611201	90611201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatcggctggacatcaacGtgcagattgacgactcctat	11	10	1	2			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr15:90611201G>A	uc002bov.1	+	2	955	c.832G>A	c.(832-834)GTG>ATG	p.V278M		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GGACATCAACGTGCAGATTGA	0.622													A	90611201	G	A	90611201	3	1	34	1	0	0	0	0	1	0	0	0	18112	1145	40	1	834	1	ZNF710	15	90611201	Missense_Mutation	SNP	G	TCGA-BR-6563-01A-13D-2053-08	16371760	90611201	11920191	55	33823											
E4F1	1877	broad.mit.edu	37	chr16	2284270	2284270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtgcgtgagcgccgcttcCgctgtggcgactgcgggaag	17	12	0	1	rs142977286		TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr16:2284270C>T	uc002cpm.2	+	10	1522	c.1474C>T	c.(1474-1476)CGC>TGC	p.R492C	E4F1_uc010bsi.2_Missense_Mutation_p.R492C|E4F1_uc010bsj.2_Intron|DNASE1L2_uc002cpn.2_5'Flank|DNASE1L2_uc002cpo.2_5'Flank|DNASE1L2_uc002cpp.2_5'Flank|DNASE1L2_uc002cpq.2_5'Flank	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	p120E4F	492	Mediates interaction with CDKN2A.|Interaction with BMI1.|C2H2-type 6.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GCGCCGCTTCCGCTGTGGCGA	0.667													T	2284270	C	T	2284270	3	4	34	1	0	0	0	0	1	0	0	0	4874	652	23	1	1512	1	E4F1	16	2284270	Missense_Mutation	SNP	C	TCGA-BR-6563-01A-13D-2053-08		2284270	88070483	56	33824											
C16orf53	79447	broad.mit.edu	37	chr16	29828032	29828032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaccgagcgtgaggggtcCgggggcgaggaggcgcaggg	24	8	0	2			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr16:29828032C>T	uc002dug.3	+	1	505	c.186C>T	c.(184-186)TCC>TCT	p.S62S	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	NM_024516	NP_078792	Q9BTK6	PA1_HUMAN	PTIP-associated 1 protein	62	Glu-rich.										0						GTGAGGGGTCCGGGGGCGAGG	0.716											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	29828032	C	T	29828032	2	4	34	1	0	0	0	0	0	0	0	1	1818	639	23	1		1	C16orf53	16	29828032	Silent	SNP	C	TCGA-BR-6563-01A-13D-2053-08	27543762	29828032	60526721	57	33825											
TMCO7	79613	broad.mit.edu	37	chr16	68934404	68934404	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttccagtcctgggagtgcTttttcttctctactgtttta	8	10	2	0			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr16:68934404T>C	uc002ewi.3	+	8	1457	c.1445T>C	c.(1444-1446)CTT>CCT	p.L482P		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	482	Helical; (Potential).					integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		CTGGGAGTGCTTTTTCTTCTC	0.388													C	68934404	T	C	68934404	3	2	34	1	0	0	0	0	1	0	0	0	15998	1609	56	3	1475	3	TMCO7	16	68934404	Missense_Mutation	SNP	T	TCGA-BR-6563-01A-13D-2053-08	39106372	68934404	21420349	58	33826											
ST3GAL2	6483	broad.mit.edu	37	chr16	70428945	70428945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagagccccgcaggttgcccGagttccccaccacggcacag	11	18	0	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr16:70428945G>A	uc002eyw.2	-	2	2581	c.473C>T	c.(472-474)TCG>TTG	p.S158L	ST3GAL2_uc002eyx.2_Missense_Mutation_p.S158L	NM_006927	NP_008858	Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	158	Lumenal (Potential).				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			ovary(1)	1		Ovarian(137;0.0694)				CAGGTTGCCCGAGTTCCCCAC	0.652													A	70428945	G	A	70428945	3	1	34	1	0	0	0	0	1	0	0	0	15214	1059	37	1	599	1	ST3GAL2	16	70428945	Missense_Mutation	SNP	G	TCGA-BR-6563-01A-13D-2053-08	1494541	70428945	19925808	59	33827											
PRPF8	10594	broad.mit.edu	37	chr17	1559814	1559814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctggaaagggagttggaGctccgatcctttgatgacaa	13	9	0	2			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr17:1559814G>A	uc002fte.2	-	36	5779	c.5665C>T	c.(5665-5667)CTC>TTC	p.L1889F		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1889	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGGAGTTGGAGCTCCGATCCT	0.478													A	1559814	G	A	1559814	3	1	34	1	0	0	0	0	1	0	0	0	12575	971	34	2	1374	2	PRPF8	17	1559814	Missense_Mutation	SNP	G	TCGA-BR-6563-01A-13D-2053-08		1559814	79635396	60	33828											
KRT25	147183	broad.mit.edu	37	chr17	38904587	38904587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggtaagtattttgctgCgttggtctacctcctcaaga	11	8	2	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr17:38904587C>T	uc002hve.2	-	8	1356	c.1295G>A	c.(1294-1296)CGC>CAC	p.R432H		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	432	Tail.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)				TATTTTGCTGCGTTGGTCTAC	0.403													T	38904587	C	T	38904587	3	4	34	1	0	0	0	0	1	0	0	0	8462	768	27	1	61	1	KRT25	17	38904587	Missense_Mutation	SNP	C	TCGA-BR-6563-01A-13D-2053-08	37344773	38904587	42290623	61	33829											
KIF2B	84643	broad.mit.edu	37	chr17	51900906	51900906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggctgcagcaggagatccGagctagacgcgccctcgatg	15	13	0	2			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr17:51900906G>A	uc002iua.2	+	1	668	c.512G>A	c.(511-513)CGA>CAA	p.R171Q	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	171	Potential.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						CAGGAGATCCGAGCTAGACGC	0.532													A	51900906	G	A	51900906	3	1	34	1	0	0	0	0	1	0	0	0	8298	1058	37	1	514	1	KIF2B	17	51900906	Missense_Mutation	SNP	G	TCGA-BR-6563-01A-13D-2053-08	12996319	51900906	29294304	62	33830											
PIK3C3	5289	broad.mit.edu	37	chr18	39637994	39637994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttccgtaaacagtgttacaCggctttcctccacctgcgaa	8	13	0	0			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr18:39637994C>T	uc002lap.2	+	22	2469	c.2411C>T	c.(2410-2412)ACG>ATG	p.T804M	PIK3C3_uc010xcl.1_Missense_Mutation_p.T741M|PIK3C3_uc002laq.2_Missense_Mutation_p.T289M	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	804	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10						CAGTGTTACACGGCTTTCCTC	0.398										TSP Lung(28;0.18)			T	39637994	C	T	39637994	3	4	34	1	0	0	0	0	1	0	0	0	11912	536	19	1	2497	1	PIK3C3	18	39637994	Missense_Mutation	SNP	C	TCGA-BR-6563-01A-13D-2053-08		39637994	38439254	63	33831											
KATNAL2	83473	broad.mit.edu	37	chr18	44579393	44579393	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttcagaaataccccaaaAttgtcaaaaagtcatcagac	4	9	4	2			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr18:44579393A>G	uc002lco.2	+	2	243	c.49A>G	c.(49-51)ATT>GTT	p.I17V	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Intron	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	89						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						ATACCCCAAAATTGTCAAAAA	0.338													G	44579393	A	G	44579393	3	3	34	1	0	0	0	0	1	0	0	0	7986	101	4	3	51	3	KATNAL2	18	44579393	Missense_Mutation	SNP	A	TCGA-BR-6563-01A-13D-2053-08	4941399	44579393	33497855	64	33832											
CXXC1	30827	broad.mit.edu	37	chr18	47812195	47812195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgaacttcttcatgtccCgacagaaatcacagtgacca	6	15	3	2			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr18:47812195C>T	uc002leq.3	-	5	1296	c.563G>A	c.(562-564)CGG>CAG	p.R188Q	CXXC1_uc002lep.3_Missense_Mutation_p.R45Q|CXXC1_uc002ler.3_Missense_Mutation_p.R188Q|CXXC1_uc010doy.2_Missense_Mutation_p.R188Q|CXXC1_uc002les.2_Missense_Mutation_p.R188Q	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	188	CXXC-type.				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CTTCATGTCCCGACAGAAATC	0.552													T	47812195	C	T	47812195	3	4	34	1	0	0	0	0	1	0	0	0	4097	652	23	1	1463	1	CXXC1	18	47812195	Missense_Mutation	SNP	C	TCGA-BR-6563-01A-13D-2053-08	3232802	47812195	30265053	65	33833											
MUC16	94025	broad.mit.edu	37	chr19	9071751	9071751	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catggtctggggtggaaattTtgctagaagagttgacccct	13	7	1	3			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr19:9071751T>G	uc002mkp.2	-	3	15899	c.15695A>C	c.(15694-15696)AAA>ACA	p.K5232T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5234	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGTGGAAATTTTGCTAGAAGA	0.488													G	9071751	T	G	9071751	3	3	34	1	0	0	0	0	1	0	0	0	9973	1841	64	5	28156	5	MUC16	19	9071751	Missense_Mutation	SNP	T	TCGA-BR-6563-01A-13D-2053-08		9071751	50057232	66	33834											
CC2D1A	54862	broad.mit.edu	37	chr19	14031623	14031623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctcctgcaggccgcactgcGagccaagcagaaaaacgacg	12	14	0	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr19:14031623G>A	uc002mxo.2	+	14	1828	c.1529G>A	c.(1528-1530)CGA>CAA	p.R510Q	CC2D1A_uc002mxp.2_Missense_Mutation_p.R510Q|CC2D1A_uc010dzh.2_Missense_Mutation_p.R79Q|CC2D1A_uc002mxq.1_Missense_Mutation_p.R155Q	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	510	Potential.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCCGCACTGCGAGCCAAGCAG	0.647													A	14031623	G	A	14031623	3	1	34	1	0	0	0	0	1	0	0	0	2726	1058	37	1	1583	1	CC2D1A	19	14031623	Missense_Mutation	SNP	G	TCGA-BR-6563-01A-13D-2053-08	4959872	14031623	45097360	67	33835											
ZNF208	7757	broad.mit.edu	37	chr19	22155029	22155029	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctctccagcatgagttttcTtatgtttactaaagactgac	6	9	2	3			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr19:22155029T>A	uc002nqp.2	-	5	2656	c.2507A>T	c.(2506-2508)AAG>ATG	p.K836M	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATGAGTTTTCTTATGTTTACT	0.368													A	22155029	T	A	22155029	3	1	34	1	0	0	0	0	1	0	0	0	17763	1609	56	5	1039	5	ZNF208	19	22155029	Missense_Mutation	SNP	T	TCGA-BR-6563-01A-13D-2053-08	8123406	22155029	36973954	68	33836											
ZNF600	162966	broad.mit.edu	37	chr19	53269036	53269036	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctttccaggatgaattCtcctatgtcttttaaggtgt	8	7	3	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr19:53269036C>A	uc002qab.3	-	3	2259	c.1973G>T	c.(1972-1974)AGA>ATA	p.R658I		NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	658	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AGGATGAATTCTCCTATGTCT	0.383													A	53269036	C	A	53269036	3	1	34	1	0	0	0	0	1	0	0	0	18027	913	32	5	199	5	ZNF600	19	53269036	Missense_Mutation	SNP	C	TCGA-BR-6563-01A-13D-2053-08	31114007	53269036	5859947	69	33837											
ANKRD5	63926	broad.mit.edu	37	chr20	10023849	10023849	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttgaacatggtgcagatgtCaacaattctacctatgaagg	9	8	2	3			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr20:10023849C>T	uc002wno.2	+	4	819	c.426C>T	c.(424-426)GTC>GTT	p.V142V	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Silent_p.V142V|ANKRD5_uc010gbz.2_5'UTR	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	142							calcium ion binding			ovary(1)|breast(1)	2						GTGCAGATGTCAACAATTCTA	0.418													T	10023849	C	T	10023849	2	4	34	1	0	0	0	0	0	0	0	1	676	813	29	4		4	ANKRD5	20	10023849	Silent	SNP	C	TCGA-BR-6563-01A-13D-2053-08		10023849	53001671	70	33838											
MACROD2	140733	broad.mit.edu	37	chr20	15913947	15913947	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acggtccagaggagaagcaaAgtgtggaagaaatggaagag	16	4	0	4			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr20:15913947A>C	uc002wou.2	+	11	1066	c.802A>C	c.(802-804)AGT>CGT	p.S268R	MACROD2_uc002wot.2_Missense_Mutation_p.S268R|MACROD2_uc002woz.2_Missense_Mutation_p.S33R|MACROD2_uc002wpb.2_Missense_Mutation_p.S33R	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2 isoform 1	268	Glu-rich.										0		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GGAGAAGCAAAGTGTGGAAGA	0.418													C	15913947	A	C	15913947	3	2	34	1	0	0	0	0	1	0	0	0	9146	72	3	5	844	5	MACROD2	20	15913947	Missense_Mutation	SNP	A	TCGA-BR-6563-01A-13D-2053-08	5890098	15913947	47111573	71	33839											
NINL	22981	broad.mit.edu	37	chr20	25457205	25457205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactccacagggctgcatgcGtgaccacctctctgaggggc	12	15	1	2			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr20:25457205G>A	uc002wux.1	-	17	2796	c.2722C>T	c.(2722-2724)CGC>TGC	p.R908C	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	908					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GGCTGCATGCGTGACCACCTC	0.706													A	25457205	G	A	25457205	3	1	34	1	0	0	0	0	1	0	0	0	10420	1145	40	1	1458	1	NINL	20	25457205	Missense_Mutation	SNP	G	TCGA-BR-6563-01A-13D-2053-08	9543258	25457205	37568315	72	33840											
BPIL1	80341	broad.mit.edu	37	chr20	31598877	31598877	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcgggccctgcaggtcactGtccctcatttcctggactgg	12	14	2	0			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr20:31598877G>C	uc002wyj.2	+	3	351	c.157G>C	c.(157-159)GTC>CTC	p.V53L		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	bactericidal/permeability-increasing	53						extracellular region	lipid binding			skin(2)|large_intestine(1)|ovary(1)	4						GCAGGTCACTGTCCCTCATTT	0.617													C	31598877	G	C	31598877	3	2	34	1	0	0	0	0	1	0	0	0	1491	1377	48	5	163	5	BPIL1	20	31598877	Missense_Mutation	SNP	G	TCGA-BR-6563-01A-13D-2053-08	6141672	31598877	31426643	73	33841											
PREX1	57580	broad.mit.edu	37	chr20	47262400	47262400	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacccacctgtaggagtcGcgataactcatggtgtcgtg	12	11	1	0	rs141398646	byFrequency	TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr20:47262400G>A	uc002xtw.1	-	26	3524	c.3501C>T	c.(3499-3501)CGC>CGT	p.R1167R	PREX1_uc002xtv.1_Silent_p.R464R	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	1167					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGTAGGAGTCGCGATAACTCA	0.602													A	47262400	G	A	47262400	2	1	34	1	0	0	0	0	0	0	0	1	12476	1074	38	1		1	PREX1	20	47262400	Silent	SNP	G	TCGA-BR-6563-01A-13D-2053-08	15663523	47262400	15763120	74	33842											
CDH4	1002	broad.mit.edu	37	chr20	60503377	60503377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaacgccatcaacatcaCggcggccgacgctgacgtcg	11	16	2	2			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr20:60503377C>T	uc002ybn.1	+	12	1915	c.1901C>T	c.(1900-1902)ACG>ATG	p.T634M	CDH4_uc002ybp.1_Missense_Mutation_p.T560M	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	634	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ATCAACATCACGGCGGCCGAC	0.622													T	60503377	C	T	60503377	3	4	34	1	0	0	0	0	1	0	0	0	3112	536	19	1	1947	1	CDH4	20	60503377	Missense_Mutation	SNP	C	TCGA-BR-6563-01A-13D-2053-08	13240977	60503377	2522143	75	33843											
COL20A1	57642	broad.mit.edu	37	chr20	61945434	61945434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctcctaggtctctgtgcCaggagccaggagccacgtga	12	13	2	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr20:61945434C>T	uc011aau.1	+	19	2469	c.2369C>T	c.(2368-2370)CCA>CTA	p.P790L	COL20A1_uc011aav.1_Missense_Mutation_p.P611L	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	790	Fibronectin type-III 6.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					GTCTCTGTGCCAGGAGCCAGG	0.642													T	61945434	C	T	61945434	3	4	34	1	0	0	0	0	1	0	0	0	3679	594	21	4	2439	4	COL20A1	20	61945434	Missense_Mutation	SNP	C	TCGA-BR-6563-01A-13D-2053-08	1442057	61945434	1080086	76	33844											
TMPRSS15	5651	broad.mit.edu	37	chr21	19666657	19666657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgccgcagagcagtcggcCgccataatacagacccacaa	10	15	0	2			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr21:19666657C>T	uc002ykw.2	-	21	2447	c.2416G>A	c.(2416-2418)GGC>AGC	p.G806S		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	806	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						AGCAGTCGGCCGCCATAATAC	0.557													T	19666657	C	T	19666657	3	4	34	1	0	0	0	0	1	0	0	0	16243	652	23	1	663	1	TMPRSS15	21	19666657	Missense_Mutation	SNP	C	TCGA-BR-6563-01A-13D-2053-08		19666657	28463238	77	33845											
CHEK2	11200	broad.mit.edu	37	chr22	29121096	29121096	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtatgcaatgtaagagTttttaggacccacttcctaa	7	8	0	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chr22:29121096T>C	uc003adu.1	-	4	533	c.461A>G	c.(460-462)AAC>AGC	p.N154S	CHEK2_uc003ads.1_Intron|CHEK2_uc010gvh.1_Intron|CHEK2_uc010gvi.1_Missense_Mutation_p.N154S|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.N197S|CHEK2_uc003adv.1_Missense_Mutation_p.N154S|CHEK2_uc003adw.1_Missense_Mutation_p.N154S|CHEK2_uc003adx.1_5'UTR|CHEK2_uc003ady.1_Missense_Mutation_p.N154S|CHEK2_uc003adz.1_Intron	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	154	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						AATGTAAGAGTTTTTAGGACC	0.348			F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer				C	29121096	T	C	29121096	3	2	34	1	0	0	0	0	1	0	0	0	3335	1725	60	3	1218	3	CHEK2	22	29121096	Missense_Mutation	SNP	T	TCGA-BR-6563-01A-13D-2053-08		29121096	22183470	78	33846											
GPR64	10149	broad.mit.edu	37	chrX	19045346	19045346	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agattactcactttaattcaCttagagacaggactccagtt	6	9	2	2			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chrX:19045346C>A	uc004cyx.2	-	11	625	c.461G>T	c.(460-462)AGT>ATT	p.S154I	GPR64_uc004cyy.2_Missense_Mutation_p.S151I|GPR64_uc004cyz.2_Missense_Mutation_p.S140I|GPR64_uc004czb.2_Missense_Mutation_p.S154I|GPR64_uc004czc.2_Missense_Mutation_p.S138I|GPR64_uc004czd.2_Missense_Mutation_p.S130I|GPR64_uc004cze.2_Missense_Mutation_p.S124I|GPR64_uc004czf.2_Missense_Mutation_p.S116I|GPR64_uc004cza.2_Missense_Mutation_p.S132I|GPR64_uc004cyw.2_Missense_Mutation_p.S138I|GPR64_uc010nfj.2_Missense_Mutation_p.S124I	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	154	Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					CTTTAATTCACTTAGAGACAG	0.333													A	19045346	C	A	19045346	3	1	34	1	0	0	0	0	1	0	0	0	6705	565	20	5	2668	5	GPR64	23	19045346	Missense_Mutation	SNP	C	TCGA-BR-6563-01A-13D-2053-08		19045346	136225214	79	33847											
USP9X	8239	broad.mit.edu	37	chrX	41043383	41043383	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgctatatctaacagaggTtagtttttggggttttttgt	11	3	1	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chrX:41043383T>C	uc004dfb.2	+	22	3912	c.3279_splice	c.e22+2	p.E1093_splice	USP9X_uc004dfc.2_Splice_Site_p.E1093_splice	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						CTAACAGAGGTTAGTTTTTGG	0.294													C	41043383	T	C	41043383	5	2	34	1	0	0	0	0	0	0	1	0	17087	1739	60	3	3363	3	USP9X	23	41043383	Splice_Site	SNP	T	TCGA-BR-6563-01A-13D-2053-08	21998037	41043383	114227177	80	33848											
FGD1	2245	broad.mit.edu	37	chrX	54472781	54472781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatgccttctgtcaggccGctcccctgcctcgggcggtc	12	17	2	0			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chrX:54472781G>A	uc004dtg.2	-	18	3381	c.2647C>T	c.(2647-2649)CGG>TGG	p.R883W		NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	883	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						CTGTCAGGCCGCTCCCCTGCC	0.632													A	54472781	G	A	54472781	3	1	34	1	0	0	0	0	1	0	0	0	5832	1086	38	1	242	1	FGD1	23	54472781	Missense_Mutation	SNP	G	TCGA-BR-6563-01A-13D-2053-08	13429398	54472781	100797779	81	33849											
KIAA2022	340533	broad.mit.edu	37	chrX	73960013	73960013	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctttcccttacatttcTcatctctcagggccttggag	8	12	3	0			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chrX:73960013T>G	uc004eby.2	-	3	4996	c.4379A>C	c.(4378-4380)GAG>GCG	p.E1460A		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1460					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						CTTACATTTCTCATCTCTCAG	0.433													G	73960013	T	G	73960013	3	3	34	1	0	0	0	0	1	0	0	0	8269	1551	54	5	179	5	KIAA2022	23	73960013	Missense_Mutation	SNP	T	TCGA-BR-6563-01A-13D-2053-08	19487232	73960013	81310547	82	33850											
CYSLTR1	10800	broad.mit.edu	37	chrX	77529240	77529240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtcagatttcctgtttcatCcatgtttctctacgaatgtc	6	10	3	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chrX:77529240C>T	uc004edb.2	-	3	404	c.4G>A	c.(4-6)GAT>AAT	p.D2N	CYSLTR1_uc010nma.2_Missense_Mutation_p.D2N|CYSLTR1_uc010nmb.2_Missense_Mutation_p.D2N	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	2	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			ovary(1)	1					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	CCTGTTTCATCCATGTTTCTC	0.338													T	77529240	C	T	77529240	3	4	34	1	0	0	0	0	1	0	0	0	4201	855	30	4	1013	4	CYSLTR1	23	77529240	Missense_Mutation	SNP	C	TCGA-BR-6563-01A-13D-2053-08	3569227	77529240	77741320	83	33851											
FAM46D	169966	broad.mit.edu	37	chrX	79698243	79698243	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgaatggttccgtagcaAgttacatacttgcaagccac	9	9	0	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chrX:79698243A>C	uc004edl.1	+	5	539	c.205A>C	c.(205-207)AGT>CGT	p.S69R	FAM46D_uc004edm.1_Missense_Mutation_p.S69R	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	hypothetical protein LOC169966	69										lung(2)	2						TTCCGTAGCAAGTTACATACT	0.378													C	79698243	A	C	79698243	3	2	34	1	0	0	0	0	1	0	0	0	5568	72	3	5	207	5	FAM46D	23	79698243	Missense_Mutation	SNP	A	TCGA-BR-6563-01A-13D-2053-08	2169003	79698243	75572317	84	33852											
SLITRK4	139065	broad.mit.edu	37	chrX	142717006	142717006	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcgtcgcaggacaaaaAcaagaaggcaaaaagcaaca	10	8	0	1			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chrX:142717006A>T	uc004fbx.2	-	2	2295	c.1919T>A	c.(1918-1920)GTT>GAT	p.V640D	SLITRK4_uc004fby.2_Missense_Mutation_p.V640D	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	640	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGACAAAAACAAGAAGGCA	0.483													T	142717006	A	T	142717006	3	4	34	1	0	0	0	0	1	0	0	0	14745	43	2	5	598	5	SLITRK4	23	142717006	Missense_Mutation	SNP	A	TCGA-BR-6563-01A-13D-2053-08	63018763	142717006	12553554	85	33853											
GABRA3	2556	broad.mit.edu	37	chrX	151336800	151336800	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagcacaggaaagatgatgCgggaaattttgtcaaccttg	12	6	1	3			TCGA-BR-6563-01A-13D-2053-08	TCGA-BR-6563-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ef0d519-c910-4490-b9b0-e1e52ae95802	eaffeea4-d428-4d1a-b0bf-3760c79fd5c1	g.chrX:151336800C>A	uc010ntk.1	-	10	1619	c.1379G>T	c.(1378-1380)CGC>CTC	p.R460L		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	460	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAAGATGATGCGGGAAATTTT	0.498													A	151336800	C	A	151336800	3	1	34	1	0	0	0	0	1	0	0	0	6162	768	27	5	103	5	GABRA3	23	151336800	Missense_Mutation	SNP	C	TCGA-BR-6563-01A-13D-2053-08	8619794	151336800	3933760	86	33854											
MTHFR	4524	broad.mit.edu	37	chr1	11861224	11861224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggctccacacctccccGcagcgccatgatgttcttca	8	17	2	1			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr1:11861224G>A	uc001atc.1	-	3	653	c.469C>T	c.(469-471)CGG>TGG	p.R157W	MTHFR_uc001atb.1_Missense_Mutation_p.R180W	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	157			R -> Q (in MTHFRD).		blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	ACACCTCCCCGCAGCGCCATG	0.587													A	11861224	G	A	11861224	3	1	35	1	0	0	0	0	1	0	0	0	9931	1086	38	1	1541	1	MTHFR	1	11861224	Missense_Mutation	SNP	G	TCGA-BR-6564-01A-12D-1882-08		11861224	237389397	1	33855											
LHX8	431707	broad.mit.edu	37	chr1	75602794	75602794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtttcctgcaggtgagccccGagggagcgggggacgaggac	19	10	0	1			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr1:75602794G>A	uc001dgo.2	+	4	779	c.115G>A	c.(115-117)GAG>AAG	p.E39K	LHX8_uc001dgq.2_5'UTR	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	LIM homeobox 8	39						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						GGTGAGCCCCGAGGGAGCGGG	0.731													A	75602794	G	A	75602794	3	1	35	1	0	0	0	0	1	0	0	0	8776	1059	37	1	125	1	LHX8	1	75602794	Missense_Mutation	SNP	G	TCGA-BR-6564-01A-12D-1882-08	63741570	75602794	173647827	2	33856											
CD101	9398	broad.mit.edu	37	chr1	117554317	117554317	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtacctaacacaggatggAggaggaagccaagccactga	13	9	0	1			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr1:117554317A>G	uc010oxb.1	+	3	628	c.570A>G	c.(568-570)GGA>GGG	p.G190G	CD101_uc009whd.2_Silent_p.G190G|CD101_uc010oxc.1_Silent_p.G190G|CD101_uc010oxd.1_Intron	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	190	Extracellular (Potential).|Ig-like C2-type 2.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						CACAGGATGGAGGAGGAAGCC	0.512													G	117554317	A	G	117554317	2	3	35	1	0	0	0	0	0	0	0	1	2962	291	11	3		3	CD101	1	117554317	Silent	SNP	A	TCGA-BR-6564-01A-12D-1882-08	41951523	117554317	131696304	3	33857											
FLG	2312	broad.mit.edu	37	chr1	152283625	152283625	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacctgtgagtgtctagagCtgtcagcccaagaggcagct	12	12	2	3			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr1:152283625C>A	uc001ezu.1	-	3	3773	c.3737G>T	c.(3736-3738)AGC>ATC	p.S1246I	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1246	Ser-rich.|Filaggrin 7.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCTAGAGCTGTCAGCCCA	0.552									Ichthyosis				A	152283625	C	A	152283625	3	1	35	1	0	0	0	0	1	0	0	0	5922	797	28	5	8452	5	FLG	1	152283625	Missense_Mutation	SNP	C	TCGA-BR-6564-01A-12D-1882-08	34729308	152283625	96966996	4	33858											
MUC1	4582	broad.mit.edu	37	chr1	155160774	155160774	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagacaactggggagaagtGctgtgattggaggaggtgag	19	3	0	4			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr1:155160774G>T	uc010pfj.1	-	2	784	c.378C>A	c.(376-378)AGC>AGA	p.S126R	RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_5'UTR|MUC1_uc001fhz.2_5'UTR|MUC1_uc010pfb.1_Intron|MUC1_uc010pfc.1_Intron|MUC1_uc009wph.2_Intron|MUC1_uc010pfd.1_Intron|MUC1_uc010pfe.1_Intron|MUC1_uc010pff.1_Intron|MUC1_uc009wpi.2_Intron|MUC1_uc010pfg.1_Intron|MUC1_uc010pfh.1_Silent_p.L102L|MUC1_uc010pfi.1_Silent_p.L102L|MUC1_uc010pfk.1_Intron|MUC1_uc010pfl.1_Intron|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Intron|MUC1_uc001fip.2_Intron|MUC1_uc009wqg.2_Intron|MUC1_uc009wpo.2_Intron|MUC1_uc009wps.2_Intron|MUC1_uc009wpt.2_Intron|MUC1_uc001fic.2_Intron|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Intron|MUC1_uc009wpv.2_Intron|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Intron|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Intron|MUC1_uc001fid.2_Intron|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Intron|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Intron|MUC1_uc001fiq.2_Intron|MUC1_uc009wpz.2_Intron|MUC1_uc010pfn.1_Intron|MUC1_uc009wqa.2_Missense_Mutation_p.S114R|MUC1_uc010pfo.1_Intron|MUC1_uc010pfp.1_Intron|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Intron|MUC1_uc009wqc.2_Silent_p.L28L|MUC1_uc009wqd.2_Missense_Mutation_p.S52R|MUC1_uc009wqb.2_Intron|MUC1_uc010pfq.1_Silent_p.L28L|MUC1_uc010pfr.1_Intron|MUC1_uc001fit.2_Intron|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Intron|MUC1_uc009wpm.2_Intron|MUC1_uc009wpp.2_Intron|MUC1_uc010pfs.1_Intron|MUC1_uc001fik.2_Intron|MUC1_uc001fio.2_Intron|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Intron|MUC1_uc001fis.1_Intron			P15941	MUC1_HUMAN	SubName: Full=Mucin 1, cell surface associated;	1031	Extracellular (Potential).					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGGGAGAAGTGCTGTGATTGG	0.498			T	IGH@	B-NHL								T	155160774	G	T	155160774	3	4	35	1	0	0	0	0	1	0	0	0	9970	1334	46	5		5	MUC1	1	155160774	Missense_Mutation	SNP	G	TCGA-BR-6564-01A-12D-1882-08	2877149	155160774	94089847	5	33859											
OR6N1	128372	broad.mit.edu	37	chr1	158735950	158735950	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaagtcacaaaagacgtgctGaatgcgattggggccacaga	13	8	1	3			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr1:158735950G>C	uc010piq.1	-	1	523	c.523C>G	c.(523-525)CAG>GAG	p.Q175E		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	175	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					AAGACGTGCTGAATGCGATTG	0.468													C	158735950	G	C	158735950	3	2	35	1	0	0	0	0	1	0	0	0	11206	1299	45	5	418	5	OR6N1	1	158735950	Missense_Mutation	SNP	G	TCGA-BR-6564-01A-12D-1882-08	3575176	158735950	90514671	6	33860											
SLC9A4	389015	broad.mit.edu	37	chr2	103130668	103130669	+	Frame_Shift_Ins	INS	-	-	A													caagccatcgagatggtggaINSgactgggatactgagctcta							TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr2:103130667_103130668G>GA	uc002tbz.4	+	7	2135_2136	c.1678_1679G>GA	c.(1678-1680)gagfs	p.E560fs		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	560					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CGAGATGGTGGAGACtgggata	0.431													A	103130669	-	A	103130668	7	5	35	1	0	1	1	0	0	0	0	0	14716	304	11	0	1709	0	SLC9A4	2	103130668	Frame_Shift_Ins	INS	-	TCGA-BR-6564-01A-12D-1882-08		103130668	140068705	7	33861											
NBEAL1	65065	broad.mit.edu	37	chr2	204045127	204045127	+	Frame_Shift_Del	DEL	T	T	-													ttgactgtgcagatcgacagTtccattctattcctgctacc							TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr2:204045126_204045126GT>G	uc002uzt.3	+	41	6732	c.6399_6399GT>G	c.(6397-6399)cagfs	p.Q2133fs	NBEAL1_uc021vvj.1_Frame_Shift_Del_p.Q836fs	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2133	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CAGATCGACAGTTCCATTCTA	0.338													-	204045127	T	-	204045127	7	5	35	1	0	1	0	1	0	0	0	0	10188	1725	60	0	6562	0	NBEAL1	2	204045127	Frame_Shift_Del	DEL	T	TCGA-BR-6564-01A-12D-1882-08	100914459	204045127	39154246	8	33862											
NPRL2	10641	broad.mit.edu	37	chr3	50385317	50385317	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaggttcttcataagcccGaactggatcagcttcctagg	10	10	3	1			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr3:50385317G>A	uc003daj.1	-	10	1351	c.948C>T	c.(946-948)TTC>TTT	p.F316F	ZMYND10_uc003dag.1_5'Flank|ZMYND10_uc010hll.1_5'Flank|ZMYND10_uc003dah.1_5'Flank|ZMYND10_uc010hlm.1_5'Flank|NPRL2_uc003dai.1_Silent_p.F196F|CYB561D2_uc003dak.2_5'Flank|CYB561D2_uc003dal.2_5'Flank|CYB561D2_uc003dam.2_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	tumor suppressor candidate 4	316					negative regulation of kinase activity		protein binding|protein kinase activity			lung(1)	1						TCATAAGCCCGAACTGGATCA	0.577													A	50385317	G	A	50385317	2	1	35	1	0	0	0	0	0	0	0	1	10597	1049	37	1		1	NPRL2	3	50385317	Silent	SNP	G	TCGA-BR-6564-01A-12D-1882-08		50385317	147637113	9	33863											
ARMC8	25852	broad.mit.edu	37	chr3	137983022	137983022	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcttcgaaccagtttcCaggatcatgctgtttggaaa	10	9	1	0			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr3:137983022C>T	uc003esa.1	+	15	1592	c.1225C>T	c.(1225-1227)CAG>TAG	p.Q409*	TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Intron|TXNDC6_uc003ese.1_Intron|ARMC8_uc011bmf.1_Nonsense_Mutation_p.Q392*|ARMC8_uc011bmg.1_Nonsense_Mutation_p.Q356*|ARMC8_uc011bmh.1_Nonsense_Mutation_p.Q350*|ARMC8_uc003esb.1_Nonsense_Mutation_p.Q381*|ARMC8_uc003esc.1_Nonsense_Mutation_p.Q181*|ARMC8_uc003esf.1_5'UTR	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8 isoform 2	423	ARM 9.						binding				0						AACCAGTTTCCAGGATCATGC	0.398													T	137983022	C	T	137983022	4	4	35	1	0	0	0	0	0	1	0	0	957	595	21	4	1345	4	ARMC8	3	137983022	Nonsense_Mutation	SNP	C	TCGA-BR-6564-01A-12D-1882-08	87597705	137983022	60039408	10	33864											
MIER3	166968	broad.mit.edu	37	chr5	56234714	56234714	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaatgctcacacttactttgTctagtgtcatgtctggtagt	8	8	4	0			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr5:56234714T>A	uc003jrd.1	-	4	336	c.311A>T	c.(310-312)GAC>GTC	p.D104V	MIER3_uc003jqz.1_Missense_Mutation_p.D41V|MIER3_uc003jra.1_Missense_Mutation_p.D104V|MIER3_uc003jrb.1_5'UTR|MIER3_uc003jrc.1_Missense_Mutation_p.D109V	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		ACTTACTTTGTCTAGTGTCAT	0.353													A	56234714	T	A	56234714	3	1	35	1	0	0	0	0	1	0	0	0	9582	1667	58	5	1378	5	MIER3	5	56234714	Missense_Mutation	SNP	T	TCGA-BR-6564-01A-12D-1882-08		56234714	124680546	11	33865											
BRD8	10902	broad.mit.edu	37	chr5	137485477	137485477	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcccctttggattcttgctGagcctccccctaggaatgcc	8	16	1	1			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr5:137485477G>A	uc003lcf.1	-	23	3185	c.3130C>T	c.(3130-3132)CAG>TAG	p.Q1044*	BRD8_uc003lcc.1_Intron	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	1044					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GATTCTTGCTGAGCCTCCCCC	0.453													A	137485477	G	A	137485477	4	1	35	1	0	0	0	0	0	1	0	0	1506	1299	45	4	597	4	BRD8	5	137485477	Nonsense_Mutation	SNP	G	TCGA-BR-6564-01A-12D-1882-08	81250763	137485477	43429783	12	33866											
SPDEF	25803	broad.mit.edu	37	chr6	34508912	34508912	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccggtattggtgctctgtCcacaggagccacttctgcac	11	13	2	0			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr6:34508912C>T	uc003ojq.1	-	3	898	c.483G>A	c.(481-483)TGG>TGA	p.W161*	SPDEF_uc011dsq.1_Nonsense_Mutation_p.W161*	NM_012391	NP_036523	O95238	SPDEF_HUMAN	SAM pointed domain containing ets transcription	161	PNT.				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(3)|ovary(1)|central_nervous_system(1)	5						GGTGCTCTGTCCACAGGAGCC	0.652													T	34508912	C	T	34508912	4	4	35	1	0	0	0	0	0	1	0	0	15025	856	30	4	540	4	SPDEF	6	34508912	Nonsense_Mutation	SNP	C	TCGA-BR-6564-01A-12D-1882-08		34508912	136606155	13	33867											
ATRNL1	26033	broad.mit.edu	37	chr10	117061471	117061471	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtatgtggtgcagcagtacGaaacgatgtgttgactctaa	12	6	1	1			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr10:117061471G>A	uc001lcg.2	+	17	3122	c.2736G>A	c.(2734-2736)ACG>ACA	p.T912T	ATRNL1_uc010qsm.1_Silent_p.T87T|ATRNL1_uc010qsn.1_RNA	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	912	PSI 4.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GCAGCAGTACGAAACGATGTG	0.448													A	117061471	G	A	117061471	2	1	35	1	0	0	0	0	0	0	0	1	1207	1045	37	1		1	ATRNL1	10	117061471	Silent	SNP	G	TCGA-BR-6564-01A-12D-1882-08		117061471	18473276	14	33868											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077900	19077900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagaagggcttggtcatttCcattcactgttgtactttct	9	8	3	1			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr11:19077900C>T	uc001mph.2	-	2	138	c.50G>A	c.(49-51)GGA>GAA	p.G17E		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	17	Extracellular (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						TTGGTCATTTCCATTCACTGT	0.522													T	19077900	C	T	19077900	3	4	35	1	0	0	0	0	1	0	0	0	9767	855	30	4	946	4	MRGPRX2	11	19077900	Missense_Mutation	SNP	C	TCGA-BR-6564-01A-12D-1882-08		19077900	115928616	15	33869											
PDHX	8050	broad.mit.edu	37	chr11	35006231	35006231	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tacttactccaatcataaaaGatgctgctgctaaaggtatc	6	9	1	1			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr11:35006231G>C	uc001mvt.2	+	9	1664	c.1138G>C	c.(1138-1140)GAT>CAT	p.D380H	PDHX_uc010rep.1_Missense_Mutation_p.D365H|PDHX_uc010req.1_Missense_Mutation_p.D153H	NM_003477	NP_003468	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	380					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			kidney(1)	1	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			AATCATAAAAGATGCTGCTGC	0.388													C	35006231	G	C	35006231	3	2	35	1	0	0	0	0	1	0	0	0	11667	942	33	5	1291	5	PDHX	11	35006231	Missense_Mutation	SNP	G	TCGA-BR-6564-01A-12D-1882-08	15928331	35006231	100000285	16	33870											
MRPL21	219927	broad.mit.edu	37	chr11	68665460	68665460	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggccaaggtggtgaactcAgggatgttttaggaacatat	13	6	1	1			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr11:68665460A>G	uc001ooi.2	-	3	192	c.167T>C	c.(166-168)CTG>CCG	p.L56P	MRPL21_uc001ooh.2_5'UTR|MRPL21_uc010rqe.1_Missense_Mutation_p.L56P	NM_181514	NP_852615	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21 isoform d	56					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGGTGAACTCAGGGATGTTTT	0.478													G	68665460	A	G	68665460	3	3	35	1	0	0	0	0	1	0	0	0	9787	188	7	3	470	3	MRPL21	11	68665460	Missense_Mutation	SNP	A	TCGA-BR-6564-01A-12D-1882-08	33659229	68665460	66341056	17	33871											
PDE2A	5138	broad.mit.edu	37	chr11	72288493	72288493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccatccagatcaggcacctCgtactcctcatccaggaagt	8	15	2	1			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr11:72288493C>T	uc010rrc.1	-	31	3004	c.2761G>A	c.(2761-2763)GAG>AAG	p.E921K	PDE2A_uc001oso.2_Missense_Mutation_p.E900K|PDE2A_uc010rra.1_Missense_Mutation_p.E914K|PDE2A_uc001osn.2_Missense_Mutation_p.E665K|PDE2A_uc010rrb.1_Missense_Mutation_p.E912K|PDE2A_uc010rrd.1_Missense_Mutation_p.E806K	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	921					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TCAGGCACCTCGTACTCCTCA	0.607													T	72288493	C	T	72288493	3	4	35	1	0	0	0	0	1	0	0	0	11636	893	31	1	68	1	PDE2A	11	72288493	Missense_Mutation	SNP	C	TCGA-BR-6564-01A-12D-1882-08	3623033	72288493	62718023	18	33872											
NECAP1	25977	broad.mit.edu	37	chr12	8242546	8242546	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctagggcctctgactggaAattagaccagcctgattgga	11	10	1	3			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr12:8242546A>T	uc001qtx.2	+	2	188	c.110A>T	c.(109-111)AAA>ATA	p.K37I	NECAP1_uc001qty.2_5'UTR	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	37					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				ovary(1)	1				Kidney(36;0.0915)		TCTGACTGGAAATTAGACCAG	0.463													T	8242546	A	T	8242546	3	4	35	1	0	0	0	0	1	0	0	0	10307	14	1	5	116	5	NECAP1	12	8242546	Missense_Mutation	SNP	A	TCGA-BR-6564-01A-12D-1882-08		8242546	125609349	19	33873											
SLC38A4	55089	broad.mit.edu	37	chr12	47172329	47172329	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttcacacttgtcatcactAtgagcttcatattctactcc	5	12	5	1			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr12:47172329A>G	uc001rpi.2	-	11	1347	c.948T>C	c.(946-948)CAT>CAC	p.H316H	SLC38A4_uc001rpj.2_Silent_p.H316H	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	316	Extracellular (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Lung SC(27;0.192)|Renal(347;0.236)					TGTCATCACTATGAGCTTCAT	0.453													G	47172329	A	G	47172329	2	3	35	1	0	0	0	0	0	0	0	1	14606	446	16	3		3	SLC38A4	12	47172329	Silent	SNP	A	TCGA-BR-6564-01A-12D-1882-08	38929783	47172329	86679566	20	33874											
ZCCHC8	55596	broad.mit.edu	37	chr12	122967235	122967235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacaattgaaacagtgagGctttggcctatttggtcaaa	9	8	1	2			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr12:122967235G>A	uc001ucn.2	-	8	810	c.679C>T	c.(679-681)CCT>TCT	p.P227S	ZCCHC8_uc001ucm.2_5'UTR|ZCCHC8_uc009zxp.2_5'UTR|ZCCHC8_uc009zxq.2_5'UTR	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	227	CCHC-type.					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		AAACAGTGAGGCTTTGGCCTA	0.308													A	122967235	G	A	122967235	3	1	35	1	0	0	0	0	1	0	0	0	17591	1203	42	2	1472	2	ZCCHC8	12	122967235	Missense_Mutation	SNP	G	TCGA-BR-6564-01A-12D-1882-08	75794906	122967235	10884660	21	33875											
ZNF75A	7627	broad.mit.edu	37	chr16	3367328	3367328	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaggcaaagaaaatcattTtgatatgcacagagtgggaa	11	5	1	3			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr16:3367328T>G	uc002cut.3	+	6	876	c.350T>G	c.(349-351)TTT>TGT	p.F117C	ZNF75A_uc002cuv.3_RNA	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1						GAAAATCATTTTGATATGCAC	0.393													G	3367328	T	G	3367328	3	3	35	1	0	0	0	0	1	0	0	0	18130	1841	64	5	360	5	ZNF75A	16	3367328	Missense_Mutation	SNP	T	TCGA-BR-6564-01A-12D-1882-08		3367328	86987425	22	33876											
NDE1	54820	broad.mit.edu	37	chr16	15790648	15790648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggcccagcctctgggcGgagcagcaagaacagagatg	16	10	1	2			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr16:15790648G>A	uc002ddt.1	+	7	921	c.878G>A	c.(877-879)CGG>CAG	p.R293Q	NDE1_uc010uzy.1_Missense_Mutation_p.R293Q|NDE1_uc002dds.2_Missense_Mutation_p.R293Q	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	nuclear distribution gene E homolog 1	293					cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			ovary(1)	1						GCCTCTGGGCGGAGCAGCAAG	0.577													A	15790648	G	A	15790648	3	1	35	1	0	0	0	0	1	0	0	0	10243	1116	39	1	904	1	NDE1	16	15790648	Missense_Mutation	SNP	G	TCGA-BR-6564-01A-12D-1882-08	12423320	15790648	74564105	23	33877											
PAPD5	64282	broad.mit.edu	37	chr16	50258847	50258847	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagatgaagttgccacataTagagattggatatcaaagca	9	6	1	3			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr16:50258847T>C	uc010vgo.1	+	10	1544	c.1509T>C	c.(1507-1509)TAT>TAC	p.Y503Y	PAPD5_uc010cbi.2_RNA|PAPD5_uc002efz.2_Silent_p.Y294Y|PAPD5_uc002ega.2_Silent_p.Y294Y	NM_001040284	NP_001035374	Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5 isoform a	424					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding				0		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		TTGCCACATATAGAGATTGGA	0.378													C	50258847	T	C	50258847	2	2	35	1	0	0	0	0	0	0	0	1	11425	1413	49	3		3	PAPD5	16	50258847	Silent	SNP	T	TCGA-BR-6564-01A-12D-1882-08	34468199	50258847	40095906	24	33878											
PDP2	57546	broad.mit.edu	37	chr16	66918510	66918510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcccaaattcagtgttgcGgtttgagagcaaccagctgg	12	9	1	1			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr16:66918510G>A	uc002eqk.1	+	2	485	c.323G>A	c.(322-324)CGG>CAG	p.R108Q		NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	pyruvate dehydrogenase phosphatase isoenzyme 2	108					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TCAGTGTTGCGGTTTGAGAGC	0.522													A	66918510	G	A	66918510	3	1	35	1	0	0	0	0	1	0	0	0	11686	1116	39	1	325	1	PDP2	16	66918510	Missense_Mutation	SNP	G	TCGA-BR-6564-01A-12D-1882-08	16659663	66918510	23436243	25	33879											
ELAC2	60528	broad.mit.edu	37	chr17	12903546	12903546	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaagttgggaagctgcagCgcctcaactatgaattcctc	11	10	1	1			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr17:12903546C>T	uc002gnz.3	-	15	1445	c.1350G>A	c.(1348-1350)GCG>GCA	p.A450A	ELAC2_uc002gnu.3_5'UTR|ELAC2_uc002gnv.3_Silent_p.A78A|ELAC2_uc002gnw.3_Silent_p.A108A|ELAC2_uc002gnx.3_Silent_p.A210A|ELAC2_uc010vvo.1_Silent_p.A248A|ELAC2_uc010vvp.1_Silent_p.A431A|ELAC2_uc010vvq.1_Silent_p.A449A|ELAC2_uc010vvr.1_Silent_p.A410A	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	elaC homolog 2 isoform 1	450					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding				0						GAAGCTGCAGCGCCTCAACTA	0.572									Hereditary_Prostate_Cancer				T	12903546	C	T	12903546	2	4	35	1	0	0	0	0	0	0	0	1	5047	755	27	1		1	ELAC2	17	12903546	Silent	SNP	C	TCGA-BR-6564-01A-12D-1882-08		12903546	68291664	26	33880											
FAM83G	644815	broad.mit.edu	37	chr17	18874692	18874692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaggggtctttgcggtcccGgggggcttgagccctccgtt	16	12	1	1			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr17:18874692G>A	uc002guw.2	-	6	2619	c.2452C>T	c.(2452-2454)CGG>TGG	p.R818W	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	818										ovary(1)|central_nervous_system(1)	2						TTGCGGTCCCGGGGGGCTTGA	0.632													A	18874692	G	A	18874692	3	1	35	1	0	0	0	0	1	0	0	0	5639	1115	39	1	23	1	FAM83G	17	18874692	Missense_Mutation	SNP	G	TCGA-BR-6564-01A-12D-1882-08	5971146	18874692	62320518	27	33881											
SMAD4	4089	broad.mit.edu	37	chr18	48591918	48591929	+	In_Frame_Del	DEL	CGCTTTTGTTTG	CGCTTTTGTTTG	-													tggacccttctggaggagatCgcttttgtttgggtcaactc					rs80338963	byFrequency	TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr18:48591917_48591928TCGCTTTTGTTTG>T	uc010xdp.2	+	8	1618_1629	c.1080_1091TCGCTTTTGTTTG>T	c.(1078-1092)gatcgcttttgtttg>gaTg	p.RFCL361del	SMAD4_uc002lfb.4_In_Frame_Del_p.RFCL206del	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	361	MH2.		R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation).		BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.R361H(24)|p.R361C(10)|p.R361S(4)|p.F362fs*2(2)|p.?(2)|p.C363R(2)|p.C363S(2)|p.D360fs*24(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CTGGAGGAGATCGCTTTTGTTTGGGTCAACTC	0.406													-	48591929	CGCTTTTGTTTG	-	48591918	7	5	35	1	0	1	0	1	0	0	0	0	14760	884	31	0	1111	0	SMAD4	18	48591918	In_Frame_Del	DEL	CGCTTTTGTTTG	TCGA-BR-6564-01A-12D-1882-08		48591918	29485330	28	33882											
ZNRF4	148066	broad.mit.edu	37	chr19	5456633	5456633	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgaggacccctccctaccGggccaccggccccccatctg	10	21	1	0			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr19:5456633G>A	uc002mca.3	+	1	1208	c.1131G>A	c.(1129-1131)CCG>CCA	p.P377P		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	377	Cytoplasmic (Potential).					integral to membrane	zinc ion binding	p.P377Q(1)		large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CCTCCCTACCGGGCCACCGGC	0.682													A	5456633	G	A	5456633	2	1	35	1	0	0	0	0	0	0	0	1	18211	1103	39	1		1	ZNRF4	19	5456633	Silent	SNP	G	TCGA-BR-6564-01A-12D-1882-08		5456633	53672350	29	33883											
KHSRP	8570	broad.mit.edu	37	chr19	6417055	6417055	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgctcgcacctgtctggGggccccattatatgagcaat	12	12	1	1			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr19:6417055G>C	uc002mer.3	-	12	1235	c.1125C>G	c.(1123-1125)CCC>CCG	p.P375P		NM_003685	NP_003676	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	375	Gly-rich.|KH 3.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			skin(1)	1						ACCTGTCTGGGGGCCCCATTA	0.622													C	6417055	G	C	6417055	2	2	35	1	0	0	0	0	0	0	0	1	8151	1219	43	5		5	KHSRP	19	6417055	Silent	SNP	G	TCGA-BR-6564-01A-12D-1882-08	960422	6417055	52711928	30	33884											
C3	718	broad.mit.edu	37	chr19	6697719	6697719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctcggatttccacctgctCgtttcgaacaacagagtagg	11	11	0	1			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr19:6697719C>T	uc002mfm.2	-	20	2589	c.2527G>A	c.(2527-2529)GAG>AAG	p.E843K		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	843					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCCACCTGCTCGTTTCGAACA	0.587													T	6697719	C	T	6697719	3	4	35	1	0	0	0	0	1	0	0	0	2204	893	31	1	2552	1	C3	19	6697719	Missense_Mutation	SNP	C	TCGA-BR-6564-01A-12D-1882-08	280664	6697719	52431264	31	33885											
CPAMD8	27151	broad.mit.edu	37	chr19	17104353	17104353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgccttaatctggaccGtcaccccctcagctgggctg	10	16	4	0			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr19:17104353G>A	uc002nfb.2	-	12	1312	c.1280C>T	c.(1279-1281)ACG>ATG	p.T427M		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	380						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						AATCTGGACCGTCACCCCCTC	0.443													A	17104353	G	A	17104353	3	1	35	1	0	0	0	0	1	0	0	0	3795	1145	40	1	4642	1	CPAMD8	19	17104353	Missense_Mutation	SNP	G	TCGA-BR-6564-01A-12D-1882-08	10406634	17104353	42024630	32	33886											
TMEM143	55260	broad.mit.edu	37	chr19	48836573	48836573	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgggggtgggtacaatcccAtgctgggggtcagggcctgc	18	11	1	0			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chr19:48836573A>G	uc002pix.1	-	8	1292	c.1283T>C	c.(1282-1284)ATG>ACG	p.M428T	TMEM143_uc002piw.1_RNA|TMEM143_uc002piy.1_Missense_Mutation_p.M393T|TMEM143_uc010xzn.1_Missense_Mutation_p.M363T|TMEM143_uc010elw.1_Missense_Mutation_p.M328T|TMEM143_uc010xzo.1_Missense_Mutation_p.M218T	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	transmembrane protein 143	428						integral to membrane|mitochondrion					0		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GTACAATCCCATGCTGGGGGT	0.627													G	48836573	A	G	48836573	3	3	35	1	0	0	0	0	1	0	0	0	16054	217	8	3	100	3	TMEM143	19	48836573	Missense_Mutation	SNP	A	TCGA-BR-6564-01A-12D-1882-08	31732220	48836573	10292410	33	33887											
FRMPD4	9758	broad.mit.edu	37	chrX	12735849	12735849	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgcctccaaagtcctcGcacgccctggctgctaggcc	11	17	0	0			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chrX:12735849G>A	uc004cuz.1	+	16	3410	c.2904G>A	c.(2902-2904)TCG>TCA	p.S968S	FRMPD4_uc011mij.1_Silent_p.S960S	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	968					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						CAAAGTCCTCGCACGCCCTGG	0.602													A	12735849	G	A	12735849	2	1	35	1	0	0	0	0	0	0	0	1	6059	1074	38	1		1	FRMPD4	23	12735849	Silent	SNP	G	TCGA-BR-6564-01A-12D-1882-08		12735849	142534711	34	33888											
OFD1	8481	broad.mit.edu	37	chrX	13753462	13753462	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cggggtatactggatacactCaaggtatcggatttaggcgt	13	7	1	0			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chrX:13753462C>T	uc004cvp.3	+	2	467	c.108C>T	c.(106-108)CTC>CTT	p.L36L	OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_5'UTR|OFD1_uc010nen.2_Silent_p.L35L|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Silent_p.L35L|OFD1_uc004cvv.3_Silent_p.L35L|TRAPPC2_uc010nek.1_5'Flank|TRAPPC2_uc010nel.1_5'Flank|TRAPPC2_uc010nem.1_5'Flank	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	36					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding				0						TGGATACACTCAAGGTATCGG	0.393													T	13753462	C	T	13753462	2	4	35	1	0	0	0	0	0	0	0	1	10838	813	29	4		4	OFD1	23	13753462	Silent	SNP	C	TCGA-BR-6564-01A-12D-1882-08	1017613	13753462	141517098	35	33889											
ZFX	7543	broad.mit.edu	37	chrX	24228401	24228401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgagaggttttttgaaaagGcacatgaaaaaccatcccga	9	8	0	3			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chrX:24228401G>A	uc004dbf.2	+	9	1584	c.1326G>A	c.(1324-1326)AGG>AGA	p.R442R	ZFX_uc004dbe.2_3'UTR|ZFX_uc011mjv.1_Silent_p.R481R|ZFX_uc010nfz.2_Silent_p.R98R	NM_003410	NP_003401	P17010	ZFX_HUMAN	zinc finger protein, X-linked	442	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(2)	2						TTTTGAAAAGGCACATGAAAA	0.403													A	24228401	G	A	24228401	2	1	35	1	0	0	0	0	0	0	0	1	17658	1194	42	2		2	ZFX	23	24228401	Silent	SNP	G	TCGA-BR-6564-01A-12D-1882-08	10474939	24228401	131042159	36	33890											
MED12	9968	broad.mit.edu	37	chrX	70357076	70357076	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataccgtcctgtgcgcttacCaatgcagaagctgcccaccc	8	16	0	1			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chrX:70357076C>A	uc004dyy.2	+	39	5790	c.5591C>A	c.(5590-5592)CCA>CAA	p.P1864Q	MED12_uc011mpq.1_Missense_Mutation_p.P1864Q|MED12_uc004dyz.2_Missense_Mutation_p.P1864Q|MED12_uc004dza.2_Missense_Mutation_p.P1711Q|MED12_uc010nla.2_Missense_Mutation_p.P490Q	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1864	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					GTGCGCTTACCAATGCAGAAG	0.567													A	70357076	C	A	70357076	3	1	35	1	0	0	0	0	1	0	0	0	9428	594	21	5	5745	5	MED12	23	70357076	Missense_Mutation	SNP	C	TCGA-BR-6564-01A-12D-1882-08	46128675	70357076	84913484	37	33891											
ZCCHC13	389874	broad.mit.edu	37	chrX	73524180	73524180	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagaggaggagctggagggCgaagaggtggaggccatggc	21	6	0	2			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chrX:73524180C>T	uc004ebs.3	+	1	156	c.79C>T	c.(79-81)CGA>TGA	p.R27*		NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	27							nucleic acid binding|zinc ion binding				0						AGCTGGAGGGCGAAGAGGTGG	0.552													T	73524180	C	T	73524180	4	4	35	1	0	0	0	0	0	1	0	0	17579	760	27	1	81	1	ZCCHC13	23	73524180	Nonsense_Mutation	SNP	C	TCGA-BR-6564-01A-12D-1882-08	3167104	73524180	81746380	38	33892											
MCART6	401612	broad.mit.edu	37	chrX	103349655	103349655	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggctatcataagtcccaaAcagaagagtcccttgcaacg	8	12	1	2			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chrX:103349655A>T	uc004elu.2	-	2	467	c.286T>A	c.(286-288)TTT>ATT	p.F96I		NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN	mitochondrial carrier triple repeat 6	96	Helical; Name=2; (Potential).|Solcar 1.				transport	integral to membrane|mitochondrial inner membrane					0						TAAGTCCCAAACAGAAGAGTC	0.567													T	103349655	A	T	103349655	3	4	35	1	0	0	0	0	1	0	0	0	9371	43	2	5	641	5	MCART6	23	103349655	Missense_Mutation	SNP	A	TCGA-BR-6564-01A-12D-1882-08	29825475	103349655	51920905	39	33893											
AMOT	154796	broad.mit.edu	37	chrX	112035177	112035177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcctgctgcatcttctcCaccttgtcaacgtacacttg	8	14	3	0			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chrX:112035177C>T	uc004epr.2	-	6	1809	c.1809G>A	c.(1807-1809)GTG>GTA	p.V603V	AMOT_uc004eps.2_Silent_p.V194V	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	603	Potential.				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						GCATCTTCTCCACCTTGTCAA	0.483													T	112035177	C	T	112035177	2	4	35	1	0	0	0	0	0	0	0	1	582	581	21	4		4	AMOT	23	112035177	Silent	SNP	C	TCGA-BR-6564-01A-12D-1882-08	8685522	112035177	43235383	40	33894											
DOCK11	139818	broad.mit.edu	37	chrX	117810670	117810670	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtgaaaagtttggtacggaGaatgtcaaaataattcagga	12	3	2	2			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chrX:117810670G>T	uc004eqp.2	+	48	5493	c.5430G>T	c.(5428-5430)GAG>GAT	p.E1810D	DOCK11_uc004eqq.2_Missense_Mutation_p.E1589D	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1810	DHR-2.				blood coagulation	cytosol	GTP binding			ovary(3)	3						TTGGTACGGAGAATGTCAAAA	0.363													T	117810670	G	T	117810670	3	4	35	1	0	0	0	0	1	0	0	0	4686	933	33	5	5620	5	DOCK11	23	117810670	Missense_Mutation	SNP	G	TCGA-BR-6564-01A-12D-1882-08	5775493	117810670	37459890	41	33895											
SOX3	6658	broad.mit.edu	37	chrX	139586762	139586762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttctccagggccattttgCgccgctgcccgcgggaccat	13	15	1	0			TCGA-BR-6564-01A-12D-1882-08	TCGA-BR-6564-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e66eb75-097c-4ad8-b2b3-9f5849dfd02f	32051bbc-4e2d-46f1-8495-b126556ab3bd	g.chrX:139586762C>T	uc004fbd.1	-	1	464	c.464G>A	c.(463-465)CGC>CAC	p.R155H		NM_005634	NP_005625	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	155	HMG box.				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			pancreas(1)	1	Acute lymphoblastic leukemia(192;7.65e-05)					GGCCATTTTGCGCCGCTGCCC	0.632													T	139586762	C	T	139586762	3	4	35	1	0	0	0	0	1	0	0	0	14951	768	27	1	880	1	SOX3	23	139586762	Missense_Mutation	SNP	C	TCGA-BR-6564-01A-12D-1882-08	21776092	139586762	15683798	42	33896											
ACTRT2	140625	broad.mit.edu	37	chr1	2938986	2938986	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgagggagtacaagctgcccGacgggaacatcatcagcctc	12	12	2	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr1:2938986G>C	uc001ajz.2	+	1	941	c.736G>C	c.(736-738)GAC>CAC	p.D246H		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	246						cytoplasm|cytoskeleton					0	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CAAGCTGCCCGACGGGAACAT	0.652													C	2938986	G	C	2938986	3	2	36	1	0	0	0	0	1	0	0	0	219	1058	37	5	738	5	ACTRT2	1	2938986	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08		2938986	246311635	1	33897											
MFN2	9927	broad.mit.edu	37	chr1	12069766	12069766	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttcttgactcacttcagagCaaagcaaagctgctcaggtg	10	10	4	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr1:12069766C>G	uc001atn.3	+	18	2640	c.2187C>G	c.(2185-2187)AGC>AGG	p.S729R	MFN2_uc009vni.2_Missense_Mutation_p.S729R	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	729	Cytoplasmic (Potential).|Potential.				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CACTTCAGAGCAAAGCAAAGC	0.567													G	12069766	C	G	12069766	3	3	36	1	0	0	0	0	1	0	0	0	9524	709	25	5	2249	5	MFN2	1	12069766	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	9130780	12069766	237180855	2	33898											
CSMD2	114784	broad.mit.edu	37	chr1	34182101	34182101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggaaagtgaagaacacaCctgccaagagaccagagggt	13	8	0	4			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr1:34182101C>T	uc001bxn.1	-	20	2911	c.2882G>A	c.(2881-2883)GGT>GAT	p.G961D	CSMD2_uc001bxm.1_Missense_Mutation_p.G1001D	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	961	Extracellular (Potential).|CUB 6.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAAGAACACACCTGCCAAGAG	0.522													T	34182101	C	T	34182101	3	4	36	1	0	0	0	0	1	0	0	0	3945	521	18	4	7781	4	CSMD2	1	34182101	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	22112335	34182101	215068520	3	33899											
DIO1	1733	broad.mit.edu	37	chr1	54360179	54360179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaaactgcccggtggtccGcctctcaggacagaggtgca	12	15	1	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr1:54360179G>A	uc010onx.1	+	1	319	c.296G>A	c.(295-297)CGC>CAC	p.R99H	DIO1_uc010onw.1_Intron|DIO1_uc009vzl.2_Missense_Mutation_p.R99H|DIO1_uc001cwb.2_Missense_Mutation_p.R99H|DIO1_uc010ony.1_Missense_Mutation_p.R99H|DIO1_uc001cwd.2_RNA|DIO1_uc001cwe.2_RNA|DIO1_uc001cwf.2_Intron|DIO1_uc001cwg.2_Intron	NM_000792	NP_000783	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I isoform a	99					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity				0						CCGGTGGTCCGCCTCTCAGGA	0.562													A	54360179	G	A	54360179	3	1	36	1	0	0	0	0	1	0	0	0	4524	1087	38	1	298	1	DIO1	1	54360179	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	20178078	54360179	194890442	4	33900											
GNG12	55970	broad.mit.edu	37	chr1	68171254	68171254	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgaggtccgctgatgccttCgaaacctgacatggagataa	11	9	0	4			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr1:68171254C>T	uc001dea.1	-	4	291	c.99G>A	c.(97-99)TCG>TCA	p.S33S		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	G-protein gamma-12 subunit precursor	33					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity				0						CTGATGCCTTCGAAACCTGAC	0.348													T	68171254	C	T	68171254	2	4	36	1	0	0	0	0	0	0	0	1	6525	871	31	1		1	GNG12	1	68171254	Silent	SNP	C	TCGA-BR-6565-01A-11D-1800-08	13811075	68171254	181079367	5	33901											
LPPR4	9890	broad.mit.edu	37	chr1	99772187	99772187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccatcatacagatcccgtCcactgaaggtgaaggcagtg	11	12	1	3			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr1:99772187C>T	uc001dse.2	+	7	2019	c.1913C>T	c.(1912-1914)TCC>TTC	p.S638F	LPPR4_uc010oue.1_Missense_Mutation_p.S580F	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	638							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CAGATCCCGTCCACTGAAGGT	0.542													T	99772187	C	T	99772187	3	4	36	1	0	0	0	0	1	0	0	0	8927	855	30	4	1939	4	LPPR4	1	99772187	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	31600933	99772187	149478434	6	33902											
COL11A1	1301	broad.mit.edu	37	chr1	103544369	103544369	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atagataaaaggaaagactgAattcctttttttggttttac	7	4	0	3			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr1:103544369A>T	uc001dul.2	-	3	651	c.333T>A	c.(331-333)ATT>ATA	p.I111I	COL11A1_uc001dum.2_Silent_p.I111I|COL11A1_uc001dun.2_Silent_p.I111I|COL11A1_uc009weh.2_Silent_p.I111I	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	111	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGAAAGACTGAATTCCTTTTT	0.353													T	103544369	A	T	103544369	2	4	36	1	0	0	0	0	0	0	0	1	3667	242	9	5		5	COL11A1	1	103544369	Silent	SNP	A	TCGA-BR-6565-01A-11D-1800-08	3772182	103544369	145706252	7	33903											
ALX3	257	broad.mit.edu	37	chr1	110607471	110607471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccgtctctggggccccctCggcagtccaagggcagctgg	15	16	1	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr1:110607471C>T	uc001dzb.2	-	2	420	c.332G>A	c.(331-333)CGA>CAA	p.R111Q		NM_006492	NP_006483	O95076	ALX3_HUMAN	aristaless-like homeobox 3	111						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGGCCCCCTCGGCAGTCCAA	0.632													T	110607471	C	T	110607471	3	4	36	1	0	0	0	0	1	0	0	0	557	884	31	1	711	1	ALX3	1	110607471	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	7063102	110607471	138643150	8	33904											
GJA5	2702	broad.mit.edu	37	chr1	147230319	147230319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctggccttactaagaCgtcgcttgtcactatgatag	10	10	1	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr1:147230319C>T	uc001eps.1	-	2	1169	c.1028G>A	c.(1027-1029)CGT>CAT	p.R343H	GJA5_uc001ept.1_Missense_Mutation_p.R343H	NM_181703	NP_859054	P36382	CXA5_HUMAN	connexin 40	343	Cytoplasmic (Potential).				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				ovary(1)	1	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CTTACTAAGACGTCGCTTGTC	0.542													T	147230319	C	T	147230319	3	4	36	1	0	0	0	0	1	0	0	0	6404	536	19	1	52	1	GJA5	1	147230319	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	36622848	147230319	102020302	9	33905											
NUP210L	91181	broad.mit.edu	37	chr1	154127377	154127377	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acccggcctggctctcggccGaagggtagcaacacctgtgg	14	14	1	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr1:154127377G>A	uc001fdw.2	-	1	216	c.144C>T	c.(142-144)TTC>TTT	p.F48F	NUP210L_uc010peh.1_Silent_p.F48F	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	48						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GCTCTCGGCCGAAGGGTAGCA	0.582													A	154127377	G	A	154127377	2	1	36	1	0	0	0	0	0	0	0	1	10761	1049	37	1		1	NUP210L	1	154127377	Silent	SNP	G	TCGA-BR-6565-01A-11D-1800-08	6897058	154127377	95123244	10	33906											
IGSF9	57549	broad.mit.edu	37	chr1	159906263	159906263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggtgtagaccccagagCtgcctcgctctacccggcgg	14	15	1	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr1:159906263C>T	uc001fur.2	-	6	797	c.599G>A	c.(598-600)AGC>AAC	p.S200N	IGSF9_uc001fuq.2_Missense_Mutation_p.S200N	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	200	Ig-like 2.|Extracellular (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GACCCCAGAGCTGCCTCGCTC	0.662											OREG0013921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	159906263	C	T	159906263	3	4	36	1	0	0	0	0	1	0	0	0	7605	797	28	2	3004	2	IGSF9	1	159906263	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	5778886	159906263	89344358	11	33907											
TBX19	9095	broad.mit.edu	37	chr1	168260524	168260524	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaacggggaatgggtgccCgctggcaagccagaggtctc	16	11	2	1	rs148222296		TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr1:168260524C>T	uc001gfl.2	+	2	381	c.330C>T	c.(328-330)CCC>CCT	p.P110P	TBX19_uc001gfj.3_Silent_p.P41P	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	110	T-box.				anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)					AATGGGTGCCCGCTGGCAAGC	0.597													T	168260524	C	T	168260524	2	4	36	1	0	0	0	0	0	0	0	1	15651	639	23	1		1	TBX19	1	168260524	Silent	SNP	C	TCGA-BR-6565-01A-11D-1800-08	8354261	168260524	80990097	12	33908											
TNN	63923	broad.mit.edu	37	chr1	175087816	175087816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcactacacgtctgccaacGgagagaccagggaggttcca	12	12	1	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr1:175087816G>A	uc001gkl.1	+	11	2619	c.2506G>A	c.(2506-2508)GGA>AGA	p.G836R		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	836	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTCTGCCAACGGAGAGACCAG	0.617													A	175087816	G	A	175087816	3	1	36	1	0	0	0	0	1	0	0	0	16320	1117	39	1	2544	1	TNN	1	175087816	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	6827292	175087816	74162805	13	33909											
FAM129A	116496	broad.mit.edu	37	chr1	184787881	184787881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcccgagctcactggtcccAtgagctcctccaggatggat	10	14	1	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr1:184787881A>G	uc001gra.2	-	9	1258	c.1064T>C	c.(1063-1065)ATG>ACG	p.M355T	FAM129A_uc001grb.1_Missense_Mutation_p.M118T|FAM129A_uc009wyh.1_Missense_Mutation_p.M183T|FAM129A_uc009wyi.1_Missense_Mutation_p.M153T	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	355					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4						CACTGGTCCCATGAGCTCCTC	0.532													G	184787881	A	G	184787881	3	3	36	1	0	0	0	0	1	0	0	0	5436	217	8	3	1746	3	FAM129A	1	184787881	Missense_Mutation	SNP	A	TCGA-BR-6565-01A-11D-1800-08	9700065	184787881	64462740	14	33910											
KIF14	9928	broad.mit.edu	37	chr1	200584676	200584676	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aacttgtttcgtgtcagggtGttccacagttatttctttcc	8	9	2	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr1:200584676G>C	uc010ppk.1	-	3	1613	c.1174C>G	c.(1174-1176)CAC>GAC	p.H392D	KIF14_uc010ppj.1_5'UTR	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	392	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						GTGTCAGGGTGTTCCACAGTT	0.353													C	200584676	G	C	200584676	3	2	36	1	0	0	0	0	1	0	0	0	8276	1377	48	5	3884	5	KIF14	1	200584676	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	15796795	200584676	48665945	15	33911											
TNNT2	7139	broad.mit.edu	37	chr1	201337322	201337322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctcggtctcagcctctGcttcagcatcctcttccgct	6	18	5	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr1:201337322G>A	uc001gwf.2	-	6	200	c.131C>T	c.(130-132)GCA>GTA	p.A44V	TNNT2_uc001gwg.2_Missense_Mutation_p.A34V|TNNT2_uc001gwh.2_Missense_Mutation_p.A29V|TNNT2_uc001gwi.2_Missense_Mutation_p.A44V|TNNT2_uc009wzr.2_5'UTR|TNNT2_uc009wzs.1_5'Flank|TNNT2_uc001gwk.1_5'UTR|TNNT2_uc009wzt.1_Missense_Mutation_p.A34V|TNNT2_uc001gwl.1_RNA	NM_000364	NP_000355	P45379	TNNT2_HUMAN	troponin T type 2, cardiac isoform 1	44					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding				0						CTCAGCCTCTGCTTCAGCATC	0.612													A	201337322	G	A	201337322	3	1	36	1	0	0	0	0	1	0	0	0	16328	1319	46	2	816	2	TNNT2	1	201337322	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	752646	201337322	47913299	16	33912											
FAM177B	400823	broad.mit.edu	37	chr1	222920036	222920036	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaggaaaaggaggagcAgagcacaaattcaacacttg	13	6	1	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr1:222920036A>C	uc001hnt.2	+	3	415	c.149A>C	c.(148-150)CAG>CCG	p.Q50P	uc001hnr.1_Intron|FAM177B_uc009xeb.2_RNA	NM_207468	NP_997351	A6PVY3	F177B_HUMAN	hypothetical protein LOC400823	50										ovary(1)	1						aaggaggagCAGAGCACAAAT	0.353													C	222920036	A	C	222920036	3	2	36	1	0	0	0	0	1	0	0	0	5502	188	7	5	151	5	FAM177B	1	222920036	Missense_Mutation	SNP	A	TCGA-BR-6565-01A-11D-1800-08	21582714	222920036	26330585	17	33913											
OR2L3	391192	broad.mit.edu	37	chr1	248224383	248224383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcttcactatcccatcCgcatgagcaaaagaatgtgt	6	12	2	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr1:248224383C>T	uc001idx.1	+	1	400	c.400C>T	c.(400-402)CGC>TGC	p.R134C	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	134	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTATCCCATCCGCATGAGCAA	0.428													T	248224383	C	T	248224383	3	4	36	1	0	0	0	0	1	0	0	0	11008	652	23	1	402	1	OR2L3	1	248224383	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	25304347	248224383	1026238	18	33914											
TPO	7173	broad.mit.edu	37	chr2	1500379	1500379	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcatagacgacaagtgtgGcttcccagagagcgtggaga	13	8	1	3			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr2:1500379G>T	uc002qww.2	+	13	2319	c.2228G>T	c.(2227-2229)GGC>GTC	p.G743V	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.G686V|TPO_uc002qwr.2_Missense_Mutation_p.G743V|TPO_uc002qwx.2_Missense_Mutation_p.G686V|TPO_uc010yio.1_Missense_Mutation_p.G570V|TPO_uc010yip.1_Missense_Mutation_p.G743V|TPO_uc002qwy.1_Missense_Mutation_p.G83V|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	743	Extracellular (Potential).|Sushi.				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACAAGTGTGGCTTCCCAGAG	0.552													T	1500379	G	T	1500379	3	4	36	1	0	0	0	0	1	0	0	0	16407	1203	42	5	2274	5	TPO	2	1500379	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08		1500379	241698994	19	33915											
APOB	338	broad.mit.edu	37	chr2	21238012	21238012	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggactctgtgatccaggagtCtattagcatacatatgcaag	10	8	2	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr2:21238012C>G	uc002red.2	-	23	3757	c.3629G>C	c.(3628-3630)AGA>ACA	p.R1210T		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1210					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATCCAGGAGTCTATTAGCATA	0.413													G	21238012	C	G	21238012	3	3	36	1	0	0	0	0	1	0	0	0	785	913	32	5	10090	5	APOB	2	21238012	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	19737633	21238012	221961361	20	33916											
BIRC6	57448	broad.mit.edu	37	chr2	32640080	32640080	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attagctggaggtttattaaCatataaatctcctgctacct	6	8	1	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr2:32640080C>A	uc010ezu.2	+	10	1855	c.1721C>A	c.(1720-1722)ACA>AAA	p.T574K		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	574					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					GGTTTATTAACATATAAATCT	0.383													A	32640080	C	A	32640080	3	1	36	1	0	0	0	0	1	0	0	0	1438	478	17	5	1759	5	BIRC6	2	32640080	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	11402068	32640080	210559293	21	33917											
EPAS1	2034	broad.mit.edu	37	chr2	46607710	46607710	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctctcttccatggggggCagatccaatacccagtggcc	10	15	2	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr2:46607710C>T	uc002ruv.2	+	12	2387	c.1899C>T	c.(1897-1899)GGC>GGT	p.G633G	EPAS1_uc002ruw.2_Silent_p.G99G	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	633					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CCATGGGGGGCAGATCCAATA	0.612													T	46607710	C	T	46607710	2	4	36	1	0	0	0	0	0	0	0	1	5150	697	25	2		2	EPAS1	2	46607710	Silent	SNP	C	TCGA-BR-6565-01A-11D-1800-08	13967630	46607710	196591663	22	33918											
HSPC159	29094	broad.mit.edu	37	chr2	64685502	64685502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaccatcgcattcaaacGttatctgcaattgacaccat	4	11	2	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr2:64685502G>A	uc002scy.3	+	5	812	c.459G>A	c.(457-459)ACG>ACA	p.T153T		NM_014181	NP_054900	Q3ZCW2	LEGL_HUMAN	galectin-related protein	153	Galectin.					intracellular	sugar binding				0						GCATTCAAACGTTATCTGCAA	0.403													A	64685502	G	A	64685502	2	1	36	1	0	0	0	0	0	0	0	1	7427	1132	40	1		1	HSPC159	2	64685502	Silent	SNP	G	TCGA-BR-6565-01A-11D-1800-08	18077792	64685502	178513871	23	33919											
GFPT1	2673	broad.mit.edu	37	chr2	69569333	69569333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcaataagaatcaaacgcCggcatctctggatctccttt	7	11	3	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr2:69569333C>T	uc002sfh.2	-	12	1279	c.1100G>A	c.(1099-1101)CGG>CAG	p.R367Q		NM_002056	NP_002047	Q06210	GFPT1_HUMAN	glucosamine-fructose-6-phosphate	385	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			skin(1)	1						AATCAAACGCCGGCATCTCTG	0.333													T	69569333	C	T	69569333	3	4	36	1	0	0	0	0	1	0	0	0	6345	652	23	1	977	1	GFPT1	2	69569333	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	4883831	69569333	173630040	24	33920											
SPR	6697	broad.mit.edu	37	chr2	73118535	73118535	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccgtggacccagacatgCgaaaagggctgcaggagctg	14	12	0	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr2:73118535C>T	uc002sik.2	+	3	705	c.655C>T	c.(655-657)CGA>TGA	p.R219*		NM_003124	NP_003115	P35270	SPRE_HUMAN	sepiapterin reductase	219					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity			ovary(2)	2						CCCAGACATGCGAAAAGGGCT	0.557													T	73118535	C	T	73118535	4	4	36	1	0	0	0	0	0	1	0	0	15090	760	27	1	665	1	SPR	2	73118535	Nonsense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	3549202	73118535	170080838	25	33921											
MOGS	7841	broad.mit.edu	37	chr2	74689430	74689430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattctggaggcacccgggCtcgggcctcatcccccagta	12	15	2	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr2:74689430C>T	uc010ffj.2	-	4	1649	c.1486G>A	c.(1486-1488)GCC>ACC	p.A496T	MOGS_uc010ffh.2_Missense_Mutation_p.A221T|MOGS_uc010yrt.1_Missense_Mutation_p.A377T|MOGS_uc010ffi.2_Missense_Mutation_p.A390T	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	496	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity				0						GGCACCCGGGCTCGGGCCTCA	0.607													T	74689430	C	T	74689430	3	4	36	1	0	0	0	0	1	0	0	0	9697	797	28	2	1031	2	MOGS	2	74689430	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	1570895	74689430	168509943	26	33922											
TEKT4	150483	broad.mit.edu	37	chr2	95537520	95537520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaccagtcggagcggcagCggcacgagagccagcagctg	17	13	0	1	rs75859449		TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr2:95537520C>T	uc002stw.1	+	1	289	c.196C>T	c.(196-198)CGG>TGG	p.R66W	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	66					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3						GGAGCGGCAGCGGCACGAGAG	0.672													T	95537520	C	T	95537520	3	4	36	1	0	0	0	0	1	0	0	0	15752	759	27	1	198	1	TEKT4	2	95537520	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	20848090	95537520	147661853	27	33923											
IL1RL2	8808	broad.mit.edu	37	chr2	102842401	102842401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggagggcttatcgccttGgtggctgtggctgtgtctgt	16	7	1	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr2:102842401G>A	uc002tbs.2	+	9	1161	c.1035G>A	c.(1033-1035)TTG>TTA	p.L345L	IL1RL2_uc002tbt.2_Silent_p.L227L	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2 precursor	345	Helical; (Potential).				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			ovary(2)	2						TTATCGCCTTGGTGGCTGTGG	0.363													A	102842401	G	A	102842401	2	1	36	1	0	0	0	0	0	0	0	1	7664	1339	47	4		4	IL1RL2	2	102842401	Silent	SNP	G	TCGA-BR-6565-01A-11D-1800-08	7304881	102842401	140356972	28	33924											
LRP1B	53353	broad.mit.edu	37	chr2	141665568	141665568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtggtccacacaagaaaCtgtcacagtcatcttcatct	8	11	5	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr2:141665568C>T	uc002tvj.1	-	22	4370	c.3398G>A	c.(3397-3399)AGT>AAT	p.S1133N	LRP1B_uc010fnl.1_Missense_Mutation_p.S315N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1133	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACACAAGAAACTGTCACAGTC	0.453										TSP Lung(27;0.18)			T	141665568	C	T	141665568	3	4	36	1	0	0	0	0	1	0	0	0	8955	565	20	4	10681	4	LRP1B	2	141665568	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	38823167	141665568	101533805	29	33925											
TNS1	7145	broad.mit.edu	37	chr2	218747129	218747129	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgccatactctggaaatcGatcatctggaaaaagagaag	9	7	3	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr2:218747129G>A	uc002vgt.2	-	15	1275	c.877C>T	c.(877-879)CGA>TGA	p.R293*	TNS1_uc002vgr.2_Nonsense_Mutation_p.R293*|TNS1_uc002vgs.2_Nonsense_Mutation_p.R293*|TNS1_uc010zjv.1_Nonsense_Mutation_p.R293*|TNS1_uc010fvj.1_Nonsense_Mutation_p.R361*|TNS1_uc010fvk.1_Nonsense_Mutation_p.R418*|TNS1_uc002vgu.3_Nonsense_Mutation_p.R324*|TNS1_uc010fvi.1_5'UTR	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	293	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCTGGAAATCGATCATCTGGA	0.323													A	218747129	G	A	218747129	4	1	36	1	0	0	0	0	0	1	0	0	16340	1066	37	1	4406	1	TNS1	2	218747129	Nonsense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	77081561	218747129	24452244	30	33926											
TMPPE	643853	broad.mit.edu	37	chr3	33135129	33135129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagttttcacagccggggGctgcgcggcattcagaatcc	12	13	2	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr3:33135129G>A	uc003cfk.2	-	2	750	c.559C>T	c.(559-561)CCC>TCC	p.P187S	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Missense_Mutation_p.P50S	NM_001039770	NP_001034859	Q6ZT21	TMPPE_HUMAN	transmembrane protein with	187						integral to membrane	metal ion binding				0						ACAGCCGGGGGCTGCGCGGCA	0.607													A	33135129	G	A	33135129	3	1	36	1	0	0	0	0	1	0	0	0	16235	1203	42	2	806	2	TMPPE	3	33135129	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08		33135129	164887301	31	33927											
NBEAL2	23218	broad.mit.edu	37	chr3	47042669	47042669	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accagactgcatcaagcgcaGgtgagagggaaagtctggag	15	8	2	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr3:47042669G>C	uc003cqp.2	+	28	4663	c.4484G>C	c.(4483-4485)AGC>ACC	p.S1495T	NBEAL2_uc010hjm.1_Missense_Mutation_p.S872T|NBEAL2_uc010hjn.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1495							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ATCAAGCGCAGGTGAGAGGGA	0.632													C	47042669	G	C	47042669	3	2	36	1	0	0	0	0	1	0	0	0	10189	1014	35	5	4594	5	NBEAL2	3	47042669	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	13907540	47042669	150979761	32	33928											
ARIH2	10425	broad.mit.edu	37	chr3	49006074	49006074	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatacaggcgctacctcttcAgggactatgtggaggtatgg	13	8	2	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr3:49006074A>G	uc003cvb.2	+	7	958	c.646A>G	c.(646-648)AGG>GGG	p.R216G	ARIH2_uc003cvc.2_Missense_Mutation_p.R216G|ARIH2_uc003cvf.2_Missense_Mutation_p.R134G|ARIH2_uc010hkl.2_Missense_Mutation_p.R216G	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	216	IBR-type.				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		CTACCTCTTCAGGGACTATGT	0.408													G	49006074	A	G	49006074	3	3	36	1	0	0	0	0	1	0	0	0	924	179	7	3	664	3	ARIH2	3	49006074	Missense_Mutation	SNP	A	TCGA-BR-6565-01A-11D-1800-08	1963405	49006074	149016356	33	33929											
AMT	275	broad.mit.edu	37	chr3	49455114	49455114	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taacccatcgccacattcttCttcagagagggggaggggca	12	11	3	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr3:49455114C>A	uc003cww.2	-	9	1200	c.1071G>T	c.(1069-1071)AAG>AAT	p.K357N	AMT_uc011bcn.1_3'UTR|AMT_uc003cwx.2_Missense_Mutation_p.K357N|AMT_uc011bco.1_Missense_Mutation_p.K313N|AMT_uc003cwy.2_Missense_Mutation_p.K309N|AMT_uc011bcp.1_Missense_Mutation_p.K260N|AMT_uc011bcq.1_Missense_Mutation_p.K301N	NM_000481	NP_000472	P48728	GCST_HUMAN	aminomethyltransferase isoform 1 precursor	357					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CCACATTCTTCTTCAGAGAGG	0.592													A	49455114	C	A	49455114	3	1	36	1	0	0	0	0	1	0	0	0	589	912	32	5	172	5	AMT	3	49455114	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	449040	49455114	148567316	34	33930											
CACNA1D	776	broad.mit.edu	37	chr3	53778854	53778854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagagcaaaaggacttaaGgttttgattcctctcctccc	7	11	1	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr3:53778854G>A	uc003dgv.3	+	23	3169	c.3006G>A	c.(3004-3006)AAG>AAA	p.K1002K	CACNA1D_uc003dgu.3_Silent_p.K1022K|CACNA1D_uc003dgy.3_Silent_p.K1002K|CACNA1D_uc003dgw.3_Silent_p.K669K|CACNA1D_uc003dgx.1_Silent_p.K150K	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1002	Cytoplasmic (Potential).|III.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AAGGACTTAAGGTTTTGATTC	0.542													A	53778854	G	A	53778854	2	1	36	1	0	0	0	0	0	0	0	1	2541	1014	35	4		4	CACNA1D	3	53778854	Silent	SNP	G	TCGA-BR-6565-01A-11D-1800-08	4323740	53778854	144243576	35	33931											
PDZRN3	23024	broad.mit.edu	37	chr3	73433107	73433107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgcgccgggatgtgcgcGtgcttgtatggggagtggtg	21	7	0	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr3:73433107G>A	uc003dpl.1	-	10	2706	c.2610C>T	c.(2608-2610)CAC>CAT	p.H870H	PDZRN3_uc011bgh.1_Silent_p.H527H|PDZRN3_uc010hoe.1_Silent_p.H568H|PDZRN3_uc011bgf.1_Silent_p.H587H|PDZRN3_uc011bgg.1_Silent_p.H590H	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	870							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGATGTGCGCGTGCTTGTATG	0.652													A	73433107	G	A	73433107	2	1	36	1	0	0	0	0	0	0	0	1	11709	1136	40	1		1	PDZRN3	3	73433107	Silent	SNP	G	TCGA-BR-6565-01A-11D-1800-08	19654253	73433107	124589323	36	33932											
EPHA6	285220	broad.mit.edu	37	chr3	97356746	97356746	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccacttcacagtcatccaGttggtcggaatgctccgagg	12	12	2	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr3:97356746G>C	uc010how.1	+	14	2647	c.2604G>C	c.(2602-2604)CAG>CAC	p.Q868H	EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.3_Missense_Mutation_p.Q260H|EPHA6_uc003drr.3_Missense_Mutation_p.Q260H|EPHA6_uc003drt.2_Missense_Mutation_p.Q260H|EPHA6_uc010hox.1_RNA	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	773	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						CAGTCATCCAGTTGGTCGGAA	0.413													C	97356746	G	C	97356746	3	2	36	1	0	0	0	0	1	0	0	0	5171	1020	36	5	2726	5	EPHA6	3	97356746	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	23923639	97356746	100665684	37	33933											
KIAA2018	205717	broad.mit.edu	37	chr3	113377235	113377235	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggaagcatggatgcaactgaGaaactacgactactgccaga	11	9	0	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr3:113377235G>C	uc003eam.2	-	7	3705	c.3294C>G	c.(3292-3294)TTC>TTG	p.F1098L	KIAA2018_uc003eal.2_Missense_Mutation_p.F1042L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1098					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						ATGCAACTGAGAAACTACGAC	0.448													C	113377235	G	C	113377235	3	2	36	1	0	0	0	0	1	0	0	0	8268	933	33	5	3447	5	KIAA2018	3	113377235	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	16020489	113377235	84645195	38	33934											
RBP1	5947	broad.mit.edu	37	chr3	139236484	139236484	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggcctcactgcaccttcttGaatacttgcttgcagaccac	8	14	2	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr3:139236484G>A	uc003eti.2	-	4	690	c.579C>T	c.(577-579)TTC>TTT	p.F193F		NM_002899	NP_002890	P09455	RET1_HUMAN	retinol binding protein 1, cellular isoform a	131						cytoplasm	retinal binding|retinol binding|transporter activity				0					Vitamin A(DB00162)	GCACCTTCTTGAATACTTGCT	0.512													A	139236484	G	A	139236484	2	1	36	1	0	0	0	0	0	0	0	1	13155	1281	45	4		4	RBP1	3	139236484	Silent	SNP	G	TCGA-BR-6565-01A-11D-1800-08	25859249	139236484	58785946	39	33935											
IGSF10	285313	broad.mit.edu	37	chr3	151162781	151162781	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agggaagaaaggcatctgagTtagctggaatagtaaaactt	12	4	1	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr3:151162781T>G	uc011bod.1	-	4	4988	c.4988A>C	c.(4987-4989)AAC>ACC	p.N1663T		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1663	Ig-like C2-type 3.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGCATCTGAGTTAGCTGGAAT	0.423													G	151162781	T	G	151162781	3	3	36	1	0	0	0	0	1	0	0	0	7597	1725	60	5	2943	5	IGSF10	3	151162781	Missense_Mutation	SNP	T	TCGA-BR-6565-01A-11D-1800-08	11926297	151162781	46859649	40	33936											
HGFAC	3083	broad.mit.edu	37	chr4	3446377	3446377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagcccttgcctgaacgGgggcacctgccacctgatcg	13	15	0	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr4:3446377G>A	uc003ghc.2	+	7	761	c.758G>A	c.(757-759)GGG>GAG	p.G253E	HGFAC_uc010icw.2_Missense_Mutation_p.G253E	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	253	EGF-like 2.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGCCTGAACGGGGGCACCTGC	0.721													A	3446377	G	A	3446377	3	1	36	1	0	0	0	0	1	0	0	0	7086	1232	43	4	784	4	HGFAC	4	3446377	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08		3446377	187707899	41	33937											
PPARGC1A	10891	broad.mit.edu	37	chr4	23886497	23886497	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gttcacatctagttcagaaaGatcaagttcaggaagatctg	9	7	6	3			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr4:23886497G>C	uc003gqs.2	-	2	232	c.112C>G	c.(112-114)CTT>GTT	p.L38V	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_5'Flank|PPARGC1A_uc010ier.1_RNA|PPARGC1A_uc003gqu.3_Missense_Mutation_p.L38V	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	38					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				AGTTCAGAAAGATCAAGTTCA	0.418													C	23886497	G	C	23886497	3	2	36	1	0	0	0	0	1	0	0	0	12300	942	33	5	2332	5	PPARGC1A	4	23886497	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	20440120	23886497	167267779	42	33938											
C4orf19	55286	broad.mit.edu	37	chr4	37592414	37592414	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggattcattgaatgaggatgTggaaacagaagttctaagca	12	4	2	3			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr4:37592414T>G	uc003gsw.3	+	4	920	c.737T>G	c.(736-738)GTG>GGG	p.V246G	C4orf19_uc003gsy.3_Missense_Mutation_p.V246G	NM_001104629	NP_001098099	Q8IY42	CD019_HUMAN	hypothetical protein LOC55286	246											0						AATGAGGATGTGGAAACAGAA	0.507													G	37592414	T	G	37592414	3	3	36	1	0	0	0	0	1	0	0	0	2253	1696	59	5	743	5	C4orf19	4	37592414	Missense_Mutation	SNP	T	TCGA-BR-6565-01A-11D-1800-08	13705917	37592414	153561862	43	33939											
C4orf40	401137	broad.mit.edu	37	chr4	71024501	71024501	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcacctgttgcagctgagCctgctgcagaggcacctgtt	13	12	0	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr4:71024501C>A	uc003hfa.3	+	4	605	c.532C>A	c.(532-534)CCT>ACT	p.P178T	C4orf40_uc003hfb.3_Missense_Mutation_p.P178T	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	hypothetical protein LOC401137 precursor	178	Ala-rich.					extracellular region					0						TGCAGCTGAGCCTGCTGCAGA	0.637													A	71024501	C	A	71024501	3	1	36	1	0	0	0	0	1	0	0	0	2269	739	26	5	542	5	C4orf40	4	71024501	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	33432087	71024501	120129775	44	33940											
CDKL2	8999	broad.mit.edu	37	chr4	76539472	76539472	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaatccaattccattaatAatctgaaacaaatacttttg	2	8	1	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr4:76539472A>C	uc003hiq.2	-	3	855	c.330T>G	c.(328-330)ATT>ATG	p.I110M	CDKL2_uc011cbp.1_Missense_Mutation_p.I110M|CDKL2_uc010iix.1_Intron	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2	110	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(2)|stomach(2)|breast(2)|skin(1)	7			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTCCATTAATAATCTGAAACA	0.254													C	76539472	A	C	76539472	3	2	36	1	0	0	0	0	1	0	0	0	3154	358	13	5	1187	5	CDKL2	4	76539472	Missense_Mutation	SNP	A	TCGA-BR-6565-01A-11D-1800-08	5514971	76539472	114614804	45	33941											
RASGEF1B	153020	broad.mit.edu	37	chr4	82369254	82369254	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagtcagctgctgggccaacGtgtaagggtcgttgcagaca	15	9	1	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr4:82369254G>C	uc003hmi.1	-	5	767	c.623C>G	c.(622-624)ACG>AGG	p.T208R	RASGEF1B_uc003hmj.1_Missense_Mutation_p.T207R|RASGEF1B_uc010ijq.1_Missense_Mutation_p.T166R	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	208	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						CTGGGCCAACGTGTAAGGGTC	0.463													C	82369254	G	C	82369254	3	2	36	1	0	0	0	0	1	0	0	0	13070	1145	40	5	838	5	RASGEF1B	4	82369254	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	5829782	82369254	108785022	46	33942											
SYNPO2	171024	broad.mit.edu	37	chr4	119951305	119951305	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgttgacgacaacacacaaGttgtgaactttgactgggat	10	8	0	3			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr4:119951305G>T	uc003icm.3	+	4	1571	c.1375G>T	c.(1375-1377)GTT>TTT	p.V459F	SYNPO2_uc010ina.2_Missense_Mutation_p.V459F|SYNPO2_uc010inb.2_Missense_Mutation_p.V459F|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.V387F	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	459						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						CAACACACAAGTTGTGAACTT	0.463													T	119951305	G	T	119951305	3	4	36	1	0	0	0	0	1	0	0	0	15454	1029	36	5	1389	5	SYNPO2	4	119951305	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	37582051	119951305	71202971	47	33943											
PCDH10	57575	broad.mit.edu	37	chr4	134072365	134072365	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctaatgacaacgcgccagAgatcagcttcagcaccgtga	10	12	2	3			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr4:134072365A>C	uc003iha.2	+	1	1896	c.1070A>C	c.(1069-1071)GAG>GCG	p.E357A	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.E357A	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	357	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		AACGCGCCAGAGATCAGCTTC	0.612													C	134072365	A	C	134072365	3	2	36	1	0	0	0	0	1	0	0	0	11507	304	11	5	1072	5	PCDH10	4	134072365	Missense_Mutation	SNP	A	TCGA-BR-6565-01A-11D-1800-08	14121060	134072365	57081911	48	33944											
DCLK2	166614	broad.mit.edu	37	chr4	151170753	151170753	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggagaataacatgcaagctGaggtgacaggtaaactaaaa	11	5	0	3			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr4:151170753G>C	uc003ilm.3	+	15	2090	c.1990G>C	c.(1990-1992)GAG>CAG	p.E664Q	DCLK2_uc003iln.3_Missense_Mutation_p.E663Q|DCLK2_uc003ilo.3_Missense_Mutation_p.E681Q|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	664					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					CATGCAAGCTGAGGTGACAGG	0.458													C	151170753	G	C	151170753	3	2	36	1	0	0	0	0	1	0	0	0	4292	1291	45	5	2048	5	DCLK2	4	151170753	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	17098388	151170753	39983523	49	33945											
TRIO	7204	broad.mit.edu	37	chr5	14485253	14485253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacatcgaggacgggtgacGtggtagagaccttcattttg	14	7	1	3			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr5:14485253G>A	uc003jff.2	+	47	6739	c.6733G>A	c.(6733-6735)GTG>ATG	p.V2245M	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.V1894M	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2245	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GACGGGTGACGTGGTAGAGAC	0.373													A	14485253	G	A	14485253	3	1	36	1	0	0	0	0	1	0	0	0	16549	1145	40	1	6919	1	TRIO	5	14485253	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08		14485253	166430007	50	33946											
PRDM9	56979	broad.mit.edu	37	chr5	23521174	23521174	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtaatgaatctagtttgaaaGaattgtcaagaacagcaaat	8	4	2	4			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr5:23521174G>T	uc003jgo.2	+	6	576	c.394G>T	c.(394-396)GAA>TAA	p.E132*		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	132					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						TAGTTTGAAAGAATTGTCAAG	0.423										HNSCC(3;0.000094)			T	23521174	G	T	23521174	4	4	36	1	0	0	0	0	0	1	0	0	12463	943	33	5	412	5	PRDM9	5	23521174	Nonsense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	9035921	23521174	157394086	51	33947											
OSMR	9180	broad.mit.edu	37	chr5	38925432	38925432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactagtgctggtgaaggccCcagtgctacgttcacgaagg	13	11	1	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr5:38925432C>T	uc003jln.1	+	15	2538	c.2171C>T	c.(2170-2172)CCC>CTC	p.P724L	OSMR_uc011cpj.1_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	724	Fibronectin type-III 4.|Extracellular (Potential).				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)					GGTGAAGGCCCCAGTGCTACG	0.443													T	38925432	C	T	38925432	3	4	36	1	0	0	0	0	1	0	0	0	11292	623	22	4	2263	4	OSMR	5	38925432	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	15404258	38925432	141989828	52	33948											
NNT	23530	broad.mit.edu	37	chr5	43653307	43653307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagcgatggctttgggtgGtaccattggtaagcacttgt	15	6	0	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr5:43653307G>A	uc003joe.2	+	14	2306	c.2051G>A	c.(2050-2052)GGT>GAT	p.G684D	NNT_uc003jof.2_Missense_Mutation_p.G684D	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	684	Helical; (Potential).				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	GCTTTGGGTGGTACCATTGGT	0.458													A	43653307	G	A	43653307	3	1	36	1	0	0	0	0	1	0	0	0	10510	1261	44	4	2101	4	NNT	5	43653307	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	4727875	43653307	137261953	53	33949											
SLCO4C1	353189	broad.mit.edu	37	chr5	101631703	101631703	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggatggaagttcctccagccGtaagacccctcctcaaactc	8	15	1	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr5:101631703G>C	uc003knm.2	-	1	551	c.264C>G	c.(262-264)TAC>TAG	p.Y88*		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	88	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TCCTCCAGCCGTAAGACCCCT	0.572													C	101631703	G	C	101631703	4	2	36	1	0	0	0	0	0	1	0	0	14730	1140	40	5	1962	5	SLCO4C1	5	101631703	Nonsense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	57978396	101631703	79283557	54	33950											
APC	324	broad.mit.edu	37	chr5	112177901	112177901	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttgattactggaaaagttCgatctaattcagaaatttca	7	5	3	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr5:112177901C>T	uc010jby.2	+	16	6990	c.6610C>T	c.(6610-6612)CGA>TGA	p.R2204*	APC_uc011cvt.1_Nonsense_Mutation_p.R2186*|APC_uc003kpz.3_Nonsense_Mutation_p.R2204*|APC_uc003kpy.3_Nonsense_Mutation_p.R2204*|APC_uc010jbz.2_Nonsense_Mutation_p.R1921*|APC_uc010jca.2_Nonsense_Mutation_p.R1504*	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2204	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGGAAAAGTTCGATCTAATTC	0.363		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			T	112177901	C	T	112177901	4	4	36	1	0	0	0	0	0	1	0	0	763	876	31	1	6668	1	APC	5	112177901	Nonsense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	10546198	112177901	68737359	55	33951											
PCDHA8	56140	broad.mit.edu	37	chr5	140222761	140222761	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agccagctgcaagcagccctCgcatcccgttccgcgtgggg	13	16	0	0	rs145175505		TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr5:140222761C>A	uc003lhs.2	+	1	1855	c.1855C>A	c.(1855-1857)CGC>AGC	p.R619S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.R619S	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	619	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCAGCCCTCGCATCCCGTT	0.672													A	140222761	C	A	140222761	3	1	36	1	0	0	0	0	1	0	0	0	11530	884	31	5	1857	5	PCDHA8	5	140222761	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	28044860	140222761	40692499	56	33952											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751796	140751796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccacattgtgcaggccaGcgagcccgggctgttcagcc	12	15	1	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr5:140751796G>A	uc003ljw.1	+	1	1835	c.1835G>A	c.(1834-1836)AGC>AAC	p.S612N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.S612N|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	612	Extracellular (Potential).|Cadherin 6.				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)			GTGCAGGCCAGCGAGCCCGGG	0.697													A	140751796	G	A	140751796	3	1	36	1	0	0	0	0	1	0	0	0	11564	971	34	2	1837	2	PCDHGB3	5	140751796	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	529035	140751796	40163464	57	33953											
PCDHGC5	56097	broad.mit.edu	37	chr5	140870921	140870921	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agcgaccgtcagtctcttatCcctagtcaccttcacctttc	5	16	4	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr5:140870921C>G	uc003lla.1	+	1	2114	c.2114C>G	c.(2113-2115)TCC>TGC	p.S705C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.S705C	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	705	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCTCTTATCCCTAGTCACC	0.572													G	140870921	C	G	140870921	3	3	36	1	0	0	0	0	1	0	0	0	11571	855	30	5	2116	5	PCDHGC5	5	140870921	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	119125	140870921	40044339	58	33954											
FAT2	2196	broad.mit.edu	37	chr5	150914081	150914081	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgcggggcattgtcattcaCatcctccacatggagggtga	12	12	2	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr5:150914081C>G	uc003lue.3	-	12	9329	c.9316G>C	c.(9316-9318)GTG>CTG	p.V3106L	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_5'Flank	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3106	Extracellular (Potential).|Cadherin 27.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGTCATTCACATCCTCCACA	0.572													G	150914081	C	G	150914081	3	3	36	1	0	0	0	0	1	0	0	0	5690	478	17	5	3781	5	FAT2	5	150914081	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	10043160	150914081	30001179	59	33955											
NSD1	64324	broad.mit.edu	37	chr5	176637132	176637132	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcctgtggaaaaaacactGcaaagaaagaatttgagact	8	7	0	3			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr5:176637132G>T	uc003mfr.3	+	5	1870	c.1732G>T	c.(1732-1734)GCA>TCA	p.A578S	NSD1_uc003mft.3_Missense_Mutation_p.A309S|NSD1_uc003mfs.1_Missense_Mutation_p.A475S|NSD1_uc011dfx.1_Missense_Mutation_p.A226S	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	578					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAAAAACACTGCAAAGAAAGA	0.443			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			T	176637132	G	T	176637132	3	4	36	1	0	0	0	0	1	0	0	0	10669	1319	46	5	1746	5	NSD1	5	176637132	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	25723051	176637132	4278128	60	33956											
FAM50B	26240	broad.mit.edu	37	chr6	3850733	3850733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcctggagctgcgctccGccggcgtggagcagctcatg	14	14	1	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr6:3850733G>A	uc003mvu.2	+	2	800	c.688G>A	c.(688-690)GCC>ACC	p.A230T		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	230						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GCTGCGCTCCGCCGGCGTGGA	0.652													A	3850733	G	A	3850733	3	1	36	1	0	0	0	0	1	0	0	0	5578	1087	38	1	690	1	FAM50B	6	3850733	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08		3850733	167264334	61	33957											
HIVEP1	3096	broad.mit.edu	37	chr6	12120526	12120526	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaacaatgtgactcaagTtccttgtcaagtaaaaccag	8	8	2	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr6:12120526T>C	uc003nac.2	+	4	677	c.498T>C	c.(496-498)AGT>AGC	p.S166S	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	166					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTGACTCAAGTTCCTTGTCAA	0.473													C	12120526	T	C	12120526	2	2	36	1	0	0	0	0	0	0	0	1	7186	1722	60	3		3	HIVEP1	6	12120526	Silent	SNP	T	TCGA-BR-6565-01A-11D-1800-08	8269793	12120526	158994541	62	33958											
NUP153	9972	broad.mit.edu	37	chr6	17629536	17629536	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttcttcgggcttagattcaGatgaaactccaaatttaaaa	6	8	2	3			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr6:17629536G>C	uc003ncd.1	-	18	3094	c.2894C>G	c.(2893-2895)TCT>TGT	p.S965C	NUP153_uc011dje.1_Missense_Mutation_p.S996C|NUP153_uc010jpl.1_Missense_Mutation_p.S923C	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	965					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTTAGATTCAGATGAAACTCC	0.328													C	17629536	G	C	17629536	3	2	36	1	0	0	0	0	1	0	0	0	10755	942	33	5	1553	5	NUP153	6	17629536	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	5509010	17629536	153485531	63	33959											
HIST1H3D	8351	broad.mit.edu	37	chr6	26197279	26197279	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacggactagacgctggaatGgcagtttgcgaatcagcagc	13	10	1	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr6:26197279G>C	uc003ngv.2	-	2	597	c.200C>G	c.(199-201)CCA>CGA	p.P67R	HIST1H2BF_uc003ngx.2_5'Flank	NM_003530	NP_003521	P68431	H31_HUMAN	histone cluster 1, H3d	67					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.196)				ACGCTGGAATGGCAGTTTGCG	0.637													C	26197279	G	C	26197279	3	2	36	1	0	0	0	0	1	0	0	0	7158	1348	47	5	214	5	HIST1H3D	6	26197279	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	8567743	26197279	144917788	64	33960											
OR2J2	26707	broad.mit.edu	37	chr6	29141962	29141962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcttctgtgaagttccaGcacttctgcgtttatcatgt	7	10	4	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr6:29141962G>A	uc011dlm.1	+	1	652	c.550G>A	c.(550-552)GCA>ACA	p.A184T		NM_030905	NP_112167	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J,	184	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGAAGTTCCAGCACTTCTGCG	0.443													A	29141962	G	A	29141962	3	1	36	1	0	0	0	0	1	0	0	0	11003	971	34	2	552	2	OR2J2	6	29141962	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	2944683	29141962	141973105	65	33961											
PHF3	23469	broad.mit.edu	37	chr6	64422326	64422326	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccagacttcaaatagttcTccatgcagatctaatgtagg	7	9	3	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr6:64422326T>C	uc003pep.1	+	15	4868	c.4842T>C	c.(4840-4842)TCT>TCC	p.S1614S	PHF3_uc003pen.2_Silent_p.S1526S|PHF3_uc011dxs.1_Silent_p.S883S	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1614					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CAAATAGTTCTCCATGCAGAT	0.373													C	64422326	T	C	64422326	2	2	36	1	0	0	0	0	0	0	0	1	11836	1538	54	3		3	PHF3	6	64422326	Silent	SNP	T	TCGA-BR-6565-01A-11D-1800-08	35280364	64422326	106692741	66	33962											
KIAA1009	22832	broad.mit.edu	37	chr6	84862600	84862601	+	Frame_Shift_Ins	INS	-	-	T													gaggtcttgtatttctctctINStttttgcagccagttcttca							TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr6:84862599_84862600C>CT	uc010kbp.3	-	22	3390_3391	c.3293_3294G>AG	c.(3292-3294)aagfs	p.K1098fs	KIAA1009_uc003pkj.4_Frame_Shift_Ins_p.K1022fs|KIAA1009_uc003pki.4_Frame_Shift_Ins_p.K484fs	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	1098					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GTATTTCTCTCTTTTTTGCAGC	0.386													T	84862601	-	T	84862600	7	5	36	1	0	1	1	0	0	0	0	0	8203	1609	56	0	938	0	KIAA1009	6	84862600	Frame_Shift_Ins	INS	-	TCGA-BR-6565-01A-11D-1800-08	20440274	84862600	86252467	67	33963											
HTR1E	3354	broad.mit.edu	37	chr6	87725916	87725916	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctagcaccagggaacggaaGgcagcacgcatcctggggct	14	12	1	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr6:87725916G>A	uc003pli.2	+	2	1567	c.864G>A	c.(862-864)AAG>AAA	p.K288K		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	288	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)|skin(1)	3		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GGGAACGGAAGGCAGCACGCA	0.502													A	87725916	G	A	87725916	2	1	36	1	0	0	0	0	0	0	0	1	7439	991	35	4		4	HTR1E	6	87725916	Silent	SNP	G	TCGA-BR-6565-01A-11D-1800-08	2863316	87725916	83389151	68	33964											
UTRN	7402	broad.mit.edu	37	chr6	144858786	144858786	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagattatctgttggttaaCaaaggctgagcatgctatgc	11	6	1	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr6:144858786C>A	uc003qkt.2	+	43	6394	c.6302C>A	c.(6301-6303)ACA>AAA	p.T2101K		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2101					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGTTGGTTAACAAAGGCTGAG	0.353													A	144858786	C	A	144858786	3	1	36	1	0	0	0	0	1	0	0	0	17100	478	17	5	6472	5	UTRN	6	144858786	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	57132870	144858786	26256281	69	33965											
FBXO30	84085	broad.mit.edu	37	chr6	146126159	146126159	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatattgcagatggaagtgaAaaagtctgagtcccaacgtc	10	7	1	3			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr6:146126159A>G	uc003qla.2	-	2	1582	c.1383T>C	c.(1381-1383)TTT>TTC	p.F461F	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	461							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		ATGGAAGTGAAAAAGTCTGAG	0.438													G	146126159	A	G	146126159	2	3	36	1	0	0	0	0	0	0	0	1	5740	11	1	3		3	FBXO30	6	146126159	Silent	SNP	A	TCGA-BR-6565-01A-11D-1800-08	1267373	146126159	24988908	70	33966											
SYNE1	23345	broad.mit.edu	37	chr6	152658021	152658021	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgttcagctccagctcAgagtgcctcctcttcatgtt	8	13	4	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr6:152658021A>G	uc010kiw.2	-	76	13085	c.12483T>C	c.(12481-12483)TCT>TCC	p.S4161S	SYNE1_uc003qot.3_Silent_p.S4090S|SYNE1_uc003qou.3_Silent_p.S4161S|SYNE1_uc010kja.1_Silent_p.S866S|SYNE1_uc010kiz.2_5'Flank	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4161	Spectrin 11.|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)		GCTCCAGCTCAGAGTGCCTCC	0.473										HNSCC(10;0.0054)			G	152658021	A	G	152658021	2	3	36	1	0	0	0	0	0	0	0	1	15442	175	7	3		3	SYNE1	6	152658021	Silent	SNP	A	TCGA-BR-6565-01A-11D-1800-08	6531862	152658021	18457046	71	33967											
SYNE1	23345	broad.mit.edu	37	chr6	152671388	152671388	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtctgccagacatctgcAgcagccacttttcgacctct	7	16	3	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr6:152671388A>G	uc010kiw.2	-	72	12418	c.11816T>C	c.(11815-11817)CTG>CCG	p.L3939P	SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Missense_Mutation_p.L3939P|SYNE1_uc010kja.1_Missense_Mutation_p.L644P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3939	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)		AGACATCTGCAGCAGCCACTT	0.542										HNSCC(10;0.0054)			G	152671388	A	G	152671388	3	3	36	1	0	0	0	0	1	0	0	0	15442	188	7	3	14950	3	SYNE1	6	152671388	Missense_Mutation	SNP	A	TCGA-BR-6565-01A-11D-1800-08	13367	152671388	18443679	72	33968											
BZW2	28969	broad.mit.edu	37	chr7	16745690	16745690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcttctctcctagaatccGaatcggaaggtgaggaaaat	9	8	2	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr7:16745690G>A	uc003stl.2	+	12	1415	c.1237G>A	c.(1237-1239)GAA>AAA	p.E413K	BZW2_uc003stm.2_Missense_Mutation_p.E219K|BZW2_uc003stj.2_Missense_Mutation_p.E413K|BZW2_uc003stk.2_Missense_Mutation_p.E337K|BZW2_uc003stp.2_Missense_Mutation_p.E261K|BZW2_uc010kua.2_Missense_Mutation_p.E372K	NM_001159767	NP_001153239	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	413	W2.				cell differentiation|nervous system development|RNA metabolic process		protein binding			ovary(2)	2	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		CCTAGAATCCGAATCGGAAGG	0.418													A	16745690	G	A	16745690	3	1	36	1	0	0	0	0	1	0	0	0	1579	1059	37	1	1279	1	BZW2	7	16745690	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08		16745690	142392973	73	33969											
ABCA13	154664	broad.mit.edu	37	chr7	48559652	48559652	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaatttacagaatatcTatgatgtcctcaagtgggtc	9	7	2	3			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr7:48559652T>C	uc003toq.2	+	53	13838	c.13813T>C	c.(13813-13815)TAT>CAT	p.Y4605H	ABCA13_uc010kys.1_Missense_Mutation_p.Y1680H|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.Y335H	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4605					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						ACAGAATATCTATGATGTCCT	0.333													C	48559652	T	C	48559652	3	2	36	1	0	0	0	0	1	0	0	0	31	1522	53	3	13852	3	ABCA13	7	48559652	Missense_Mutation	SNP	T	TCGA-BR-6565-01A-11D-1800-08	31813962	48559652	110579011	74	33970											
MUC17	140453	broad.mit.edu	37	chr7	100685356	100685356	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgttaccagttctagtcaAgccagttcatctccagcaac	6	12	4	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr7:100685356A>G	uc003uxp.1	+	3	10712	c.10659A>G	c.(10657-10659)CAA>CAG	p.Q3553Q	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3553	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GTTCTAGTCAAGCCAGTTCAT	0.478													G	100685356	A	G	100685356	2	3	36	1	0	0	0	0	0	0	0	1	9974	69	3	3		3	MUC17	7	100685356	Silent	SNP	A	TCGA-BR-6565-01A-11D-1800-08	52125704	100685356	58453307	75	33971											
LRRN3	54674	broad.mit.edu	37	chr7	110764339	110764339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaactaacctagttggcgCtgacttgaagtctgttatga	10	8	1	3			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr7:110764339C>T	uc003vft.3	+	4	2557	c.1511C>T	c.(1510-1512)GCT>GTT	p.A504V	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.A504V|LRRN3_uc003vfs.3_Missense_Mutation_p.A504V	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	504	Extracellular (Potential).|Ig-like C2-type.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CTAGTTGGCGCTGACTTGAAG	0.373													T	110764339	C	T	110764339	3	4	36	1	0	0	0	0	1	0	0	0	9036	797	28	2	1513	2	LRRN3	7	110764339	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	10078983	110764339	48374324	76	33972											
LRGUK	136332	broad.mit.edu	37	chr7	133876492	133876492	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagacgtttttgatgaaAtggtgaacatggtaagaatg	11	4	1	5			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr7:133876492A>T	uc003vrm.1	+	12	1436	c.1420A>T	c.(1420-1422)ATG>TTG	p.M474L		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	474	Guanylate kinase-like.						ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5						TTTTGATGAAATGGTGAACAT	0.343													T	133876492	A	T	133876492	3	4	36	1	0	0	0	0	1	0	0	0	8943	101	4	5	1466	5	LRGUK	7	133876492	Missense_Mutation	SNP	A	TCGA-BR-6565-01A-11D-1800-08	23112153	133876492	25262171	77	33973											
CLCN1	1180	broad.mit.edu	37	chr7	143048760	143048760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgccagcttccggaacaCgacttcaactcgaaagagta	8	13	1	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr7:143048760C>T	uc003wcr.1	+	23	2756	c.2669C>T	c.(2668-2670)ACG>ATG	p.T890M	CLCN1_uc011ktc.1_Missense_Mutation_p.T502M	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	890	Cytoplasmic (By similarity).				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)					TTCCGGAACACGACTTCAACT	0.562													T	143048760	C	T	143048760	3	4	36	1	0	0	0	0	1	0	0	0	3462	536	19	1	2759	1	CLCN1	7	143048760	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	9172268	143048760	16089903	78	33974											
FAM160B2	64760	broad.mit.edu	37	chr8	21959240	21959240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggagtgcagctcccgcGtcgcctcctggggctggcct	14	16	0	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr8:21959240G>A	uc011kyx.1	+	14	1780	c.1729G>A	c.(1729-1731)GTC>ATC	p.V577I	FAM160B2_uc011kyy.1_RNA	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	retinoic acid induced 16	577											0						CAGCTCCCGCGTCGCCTCCTG	0.662													A	21959240	G	A	21959240	3	1	36	1	0	0	0	0	1	0	0	0	5471	1145	40	1	1582	1	FAM160B2	8	21959240	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08		21959240	124404782	79	33975											
HOOK3	84376	broad.mit.edu	37	chr8	42868523	42868523	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agatggaagagaaatatattGttagtgcctggtacaatatg	11	3	0	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr8:42868523G>C	uc003xpr.2	+	21	2238	c.1996G>C	c.(1996-1998)GTT>CTT	p.V666L		NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	666	Potential.|Required for interaction with MSR1.|Required for association with Golgi.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GAAATATATTGTTAGTGCCTG	0.264			T	RET	papillary thyroid								C	42868523	G	C	42868523	3	2	36	1	0	0	0	0	1	0	0	0	7284	1377	48	5	2078	5	HOOK3	8	42868523	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	20909283	42868523	103495499	80	33976											
MRPL15	29088	broad.mit.edu	37	chr8	55055268	55055268	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttaatattgaagtacagttgGcttcagaactagctattgct	8	6	1	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr8:55055268G>C	uc003xsa.2	+	4	538	c.475G>C	c.(475-477)GCT>CCT	p.A159P		NM_014175	NP_054894	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15 precursor	159					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome				0		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			AGTACAGTTGGCTTCAGAACT	0.383													C	55055268	G	C	55055268	3	2	36	1	0	0	0	0	1	0	0	0	9780	1203	42	5	489	5	MRPL15	8	55055268	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	12186745	55055268	91308754	81	33977											
LYN	4067	broad.mit.edu	37	chr8	56910959	56910959	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actacattcaccgggacctgCgagcagctaatgttctggtc	10	12	2	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr8:56910959C>G	uc003xsk.3	+	11	1387	c.1105C>G	c.(1105-1107)CGA>GGA	p.R369G	LYN_uc003xsl.3_Missense_Mutation_p.R348G	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	369	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			CCGGGACCTGCGAGCAGCTAA	0.458													G	56910959	C	G	56910959	3	3	36	1	0	0	0	0	1	0	0	0	9107	760	27	5	1143	5	LYN	8	56910959	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	1855691	56910959	89453063	82	33978											
IMPAD1	54928	broad.mit.edu	37	chr8	57878831	57878831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaccatccctgaatgggaacGagacacaacgatccttgggg	12	11	0	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr8:57878831G>A	uc003xte.3	-	4	1010	c.727C>T	c.(727-729)CGT>TGT	p.R243C		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	243						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			ovary(1)	1		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GAATGGGAACGAGACACAACG	0.463													A	57878831	G	A	57878831	3	1	36	1	0	0	0	0	1	0	0	0	7725	1058	37	1	360	1	IMPAD1	8	57878831	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	967872	57878831	88485191	83	33979											
CSMD3	114788	broad.mit.edu	37	chr8	113256710	113256710	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgctaagaagaagccaggctGacaggtataaatcagtgtat	11	6	1	3			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr8:113256710G>C	uc003ynu.2	-	65	10474	c.10315C>G	c.(10315-10317)CAG>GAG	p.Q3439E	CSMD3_uc003yns.2_Missense_Mutation_p.Q2641E|CSMD3_uc003ynt.2_Missense_Mutation_p.Q3399E|CSMD3_uc011lhx.1_Missense_Mutation_p.Q3270E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3439	Extracellular (Potential).|Sushi 28.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AAGCCAGGCTGACAGGTATAA	0.443										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113256710	G	C	113256710	3	2	36	1	0	0	0	0	1	0	0	0	3946	1299	45	5	836	5	CSMD3	8	113256710	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	55377879	113256710	33107312	84	33980											
ADCY8	114	broad.mit.edu	37	chr8	131795942	131795942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctgctactcaccaatcCggagttcaaaattgttgaat	8	10	2	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr8:131795942C>T	uc003ytd.3	-	17	3519	c.3263G>A	c.(3262-3264)CGG>CAG	p.R1088Q	ADCY8_uc010mds.2_Missense_Mutation_p.R957Q	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	1088	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTCACCAATCCGGAGTTCAAA	0.512										HNSCC(32;0.087)			T	131795942	C	T	131795942	3	4	36	1	0	0	0	0	1	0	0	0	300	652	23	1	500	1	ADCY8	8	131795942	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	18539232	131795942	14568080	85	33981											
BAI1	575	broad.mit.edu	37	chr8	143570781	143570781	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcacacccttggagatcgaGtttgcccacatgtataatgt	9	11	0	1	rs146388200	by1000genomes	TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr8:143570781G>C	uc003ywm.2	+	15	2796	c.2613G>C	c.(2611-2613)GAG>GAC	p.E871D		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	871	Extracellular (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGGAGATCGAGTTTGCCCACA	0.572													C	143570781	G	C	143570781	3	2	36	1	0	0	0	0	1	0	0	0	1298	1020	36	5	2671	5	BAI1	8	143570781	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	11774839	143570781	2793241	86	33982											
KIAA2026	158358	broad.mit.edu	37	chr9	5968974	5968974	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttggtaaaaaggtagttcGtgaaaaggtttttcttccaa	9	4	1	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr9:5968974G>A	uc003zjq.3	-	3	1473	c.1257C>T	c.(1255-1257)CAC>CAT	p.H419H		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	419										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AAGGTAGTTCGTGAAAAGGTT	0.373													A	5968974	G	A	5968974	2	1	36	1	0	0	0	0	0	0	0	1	8270	1136	40	1		1	KIAA2026	9	5968974	Silent	SNP	G	TCGA-BR-6565-01A-11D-1800-08		5968974	135244457	87	33983											
PTPRD	5789	broad.mit.edu	37	chr9	8317903	8317903	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atagtggtcaaagctgcccaGgtactctagtgcggcacgat	12	10	2	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr9:8317903G>C	uc003zkk.2	-	45	6421	c.5710C>G	c.(5710-5712)CTG>GTG	p.L1904V	PTPRD_uc003zkp.2_Missense_Mutation_p.L1498V|PTPRD_uc003zkq.2_Missense_Mutation_p.L1497V|PTPRD_uc003zkr.2_Missense_Mutation_p.L1488V|PTPRD_uc003zks.2_Missense_Mutation_p.L1497V|PTPRD_uc003zkl.2_Missense_Mutation_p.L1895V|PTPRD_uc003zkm.2_Missense_Mutation_p.L1891V|PTPRD_uc003zkn.2_Missense_Mutation_p.L1493V|PTPRD_uc003zko.2_Missense_Mutation_p.L1494V	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1904	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAGCTGCCCAGGTACTCTAGT	0.448										TSP Lung(15;0.13)			C	8317903	G	C	8317903	3	2	36	1	0	0	0	0	1	0	0	0	12799	991	35	5	32	5	PTPRD	9	8317903	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	2348929	8317903	132895528	88	33984											
C9orf100	84904	broad.mit.edu	37	chr9	35662219	35662219	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gtaccagcgtgacagctcctCctggtctgtggacataagca	11	12	1	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr9:35662219C>G	uc003zxm.1	-	8	1061	c.949G>C	c.(949-951)GAG>CAG	p.E317Q	C9orf100_uc003zxl.2_RNA	NM_032818	NP_116207	Q8N4T4	CI100_HUMAN	hypothetical protein LOC84904	317	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACAGCTCCTCCTGGTCTGTG	0.532													G	35662219	C	G	35662219	3	3	36	1	0	0	0	0	1	0	0	0	2444	864	30	5	66	5	C9orf100	9	35662219	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	27344316	35662219	105551212	89	33985											
SHC3	53358	broad.mit.edu	37	chr9	91686168	91686168	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgtggtgattcgctatgatCtgccaggcccaaaacaagaa	10	9	1	3			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr9:91686168C>A	uc004aqg.2	-	5	1037	c.730_splice	c.e5-1	p.I244_splice		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming						central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4						TCGCTATGATCTGCCAGGCCC	0.483													A	91686168	C	A	91686168	5	1	36	1	0	0	0	0	0	0	1	0	14272	927	32	5	1087	5	SHC3	9	91686168	Splice_Site	SNP	C	TCGA-BR-6565-01A-11D-1800-08	56023949	91686168	49527263	90	33986											
METTL11A	28989	broad.mit.edu	37	chr9	132397491	132397491	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctctgccctccccaggccaCctcaccgatcagcacctggc	7	22	3	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr9:132397491C>G	uc004byd.1	+	4	614	c.420C>G	c.(418-420)CAC>CAG	p.H140Q	METTL11A_uc010myw.1_RNA|METTL11A_uc011mbs.1_Missense_Mutation_p.T112S|ASB6_uc004bye.1_3'UTR|ASB6_uc004byf.1_3'UTR|ASB6_uc004byg.1_3'UTR|ASB6_uc011mbt.1_3'UTR|ASB6_uc010myx.1_3'UTR	NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN	methyltransferase like 11A	140					chromosome segregation|N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|spindle organization	nucleus	protein binding|protein methyltransferase activity				0						CCCCAGGCCACCTCACCGATC	0.597													G	132397491	C	G	132397491	3	3	36	1	0	0	0	0	1	0	0	0	9495	506	18	5	430	5	METTL11A	9	132397491	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	40711323	132397491	8815940	91	33987											
DIP2C	22982	broad.mit.edu	37	chr10	402365	402365	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggccagctccgcgcctcaCccgacagttgagcagcgtgt	12	15	1	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr10:402365C>A	uc001ifp.2	-	24	3075	c.2985_splice	c.e24+1	p.R995_splice	DIP2C_uc009xhi.1_Splice_Site_p.R381_splice|DIP2C_uc010pzz.1_Missense_Mutation_p.V317L	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C							nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCGCGCCTCACCCGACAGTTG	0.592													A	402365	C	A	402365	5	1	36	1	0	0	0	0	0	0	1	0	4529	521	18	5	1740	5	DIP2C	10	402365	Splice_Site	SNP	C	TCGA-BR-6565-01A-11D-1800-08		402365	135132382	92	33988											
CACNB2	783	broad.mit.edu	37	chr10	18827202	18827202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctactggaaggccacccatCctcccagcagtagcctcccc	7	20	0	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr10:18827202C>T	uc001ipr.2	+	13	1456	c.1396C>T	c.(1396-1398)CCT>TCT	p.P466S	CACNB2_uc009xjz.1_Missense_Mutation_p.P216S|CACNB2_uc001ips.2_Missense_Mutation_p.P442S|CACNB2_uc001ipt.2_Missense_Mutation_p.P428S|CACNB2_uc001ipu.2_Missense_Mutation_p.P438S|CACNB2_uc001ipv.2_Missense_Mutation_p.P414S|CACNB2_uc009xka.1_Missense_Mutation_p.P400S|CACNB2_uc001ipw.2_Missense_Mutation_p.P373S|CACNB2_uc001ipx.2_Missense_Mutation_p.P411S|CACNB2_uc001ipz.2_Missense_Mutation_p.P388S|CACNB2_uc001ipy.2_Missense_Mutation_p.P412S|CACNB2_uc010qco.1_Missense_Mutation_p.P380S|CACNB2_uc001iqa.2_Missense_Mutation_p.P418S|NSUN6_uc001iqb.2_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	466					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGCCACCCATCCTCCCAGCAG	0.557													T	18827202	C	T	18827202	3	4	36	1	0	0	0	0	1	0	0	0	2553	855	30	4	1756	4	CACNB2	10	18827202	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	18424837	18827202	116707545	93	33989											
NEBL	10529	broad.mit.edu	37	chr10	21461326	21461327	+	Missense_Mutation	DNP	CT	CT	AA													acttacgcattacaatagggCttcttttcatagcctttgta							TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr10:21461326_21461327CT>AA	uc001iqk.2	-	2	503_504	c.149_150AG>TT	c.(148-150)AAG>ATT	p.K50I		NM_213569	NP_998734	O76041	NEBL_HUMAN	nebulette non-muscle isoform	712	Nebulin 20.			RAKENQKNISNVYYRGQLGRA -> PKETRKTSACLLQSSA GES (in Ref. 2; AAF24858).	regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						TACAATAGGGCTTCTTTTCATA	0.431													AA	21461327	CT	AA	21461326	3	1	36	1	0	0	0	0	1	0	0	0	10303	796	28	5	3375	5	NEBL	10	21461326	Missense_Mutation	DNP	CT	TCGA-BR-6565-01A-11D-1800-08	2634124	21461326	114073421	94	33990											
LRRC18	474354	broad.mit.edu	37	chr10	50121975	50121975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgcaggtccagccaccGgaggttctggaacttggaga	15	10	1	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr10:50121975G>A	uc001jhd.2	-	1	306	c.226C>T	c.(226-228)CGG>TGG	p.R76W	WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.R76W	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	76	LRR 3.					cytoplasm				ovary(1)|pancreas(1)	2						TCCAGCCACCGGAGGTTCTGG	0.547													A	50121975	G	A	50121975	3	1	36	1	0	0	0	0	1	0	0	0	8974	1115	39	1	567	1	LRRC18	10	50121975	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	28660649	50121975	85412772	95	33991											
COL13A1	1305	broad.mit.edu	37	chr10	71684726	71684726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatgcaacagggggagcGtggagcagctggagaacagg	18	7	1	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr10:71684726G>A	uc001jpr.1	+	23	1795	c.1259G>A	c.(1258-1260)CGT>CAT	p.R420H	COL13A1_uc001jqj.1_Missense_Mutation_p.R420H|COL13A1_uc001jps.1_Missense_Mutation_p.R391H|COL13A1_uc001jpt.1_Missense_Mutation_p.R379H|COL13A1_uc001jpu.1_Missense_Mutation_p.R401H|COL13A1_uc001jpv.1_Missense_Mutation_p.R420H|COL13A1_uc001jpx.1_Missense_Mutation_p.R398H|COL13A1_uc001jpw.1_Missense_Mutation_p.R367H|COL13A1_uc001jpy.1_Missense_Mutation_p.R358H|COL13A1_uc001jpz.1_Missense_Mutation_p.R363H|COL13A1_uc001jqa.1_Missense_Mutation_p.R360H|COL13A1_uc001jqc.1_Missense_Mutation_p.R420H|COL13A1_uc001jqb.1_Missense_Mutation_p.R369H|COL13A1_uc001jql.2_Missense_Mutation_p.R420H|COL13A1_uc001jqd.1_Missense_Mutation_p.R408H|COL13A1_uc001jqe.1_Missense_Mutation_p.R403H|COL13A1_uc001jqf.1_Missense_Mutation_p.R401H|COL13A1_uc001jqg.1_Missense_Mutation_p.R398H|COL13A1_uc001jqh.1_Missense_Mutation_p.R420H|COL13A1_uc001jqi.1_Missense_Mutation_p.R420H|COL13A1_uc010qjf.1_Missense_Mutation_p.R210H|COL13A1_uc001jqk.1_Missense_Mutation_p.R258H	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN	alpha 1 type XIII collagen isoform 1	420	Extracellular (Potential).|Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)	CAGGGGGAGCGTGGAGCAGCT	0.512													A	71684726	G	A	71684726	3	1	36	1	0	0	0	0	1	0	0	0	3670	1145	40	1	1353	1	COL13A1	10	71684726	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	21562751	71684726	63850021	96	33992											
ECD	11319	broad.mit.edu	37	chr10	74906052	74906052	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acctttctggccagtctactGagagctggaagtaattctct	9	10	3	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr10:74906052G>C	uc001jtn.2	-	9	1352	c.1109C>G	c.(1108-1110)TCA>TGA	p.S370*	ECD_uc009xqx.2_Nonsense_Mutation_p.S370*|ECD_uc009xqy.2_Nonsense_Mutation_p.S327*|ECD_uc001jto.2_Nonsense_Mutation_p.S69*	NM_007265	NP_009196	O95905	SGT1_HUMAN	suppressor of S. cerevisiae gcr2 isoform 1	370					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			pancreas(1)	1	Prostate(51;0.0119)					CCAGTCTACTGAGAGCTGGAA	0.328													C	74906052	G	C	74906052	4	2	36	1	0	0	0	0	0	1	0	0	4888	1294	45	5	952	5	ECD	10	74906052	Nonsense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	3221326	74906052	60628695	97	33993											
ZMYND17	118490	broad.mit.edu	37	chr10	75185821	75185821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagtaagaaatgtctccaCatgggaagcaccaaccacat	9	11	1	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr10:75185821C>T	uc001jud.2	-	5	883	c.817G>A	c.(817-819)GTG>ATG	p.V273M	ZMYND17_uc001juc.2_Missense_Mutation_p.V273M|ZMYND17_uc009xrh.2_Missense_Mutation_p.V296M|ZMYND17_uc009xrg.2_Intron	NM_001024593	NP_001019764	Q4VC12	ZMY17_HUMAN	zinc finger, MYND domain containing 17	273							zinc ion binding			ovary(1)	1	Prostate(51;0.0119)					AATGTCTCCACATGGGAAGCA	0.547													T	75185821	C	T	75185821	3	4	36	1	0	0	0	0	1	0	0	0	17706	478	17	4	577	4	ZMYND17	10	75185821	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	279769	75185821	60348926	98	33994											
SORCS3	22986	broad.mit.edu	37	chr10	106982932	106982932	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gccataagaaataaggaggtCaacatcagtgcagtcgtgtg	12	7	2	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr10:106982932C>G	uc001kyi.1	+	20	3020	c.2793C>G	c.(2791-2793)GTC>GTG	p.V931V	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	931	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATAAGGAGGTCAACATCAGTG	0.443													G	106982932	C	G	106982932	2	3	36	1	0	0	0	0	0	0	0	1	14932	813	29	5		5	SORCS3	10	106982932	Silent	SNP	C	TCGA-BR-6565-01A-11D-1800-08	31797111	106982932	28551815	99	33995											
PHRF1	57661	broad.mit.edu	37	chr11	598413	598413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttccctgctggatgaagCcatcgaggctgtggcgactg	14	11	1	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr11:598413C>T	uc001lqe.2	+	9	1066	c.935C>T	c.(934-936)GCC>GTC	p.A312V	PHRF1_uc010qwc.1_Missense_Mutation_p.A312V|PHRF1_uc010qwd.1_Missense_Mutation_p.A311V|PHRF1_uc010qwe.1_Missense_Mutation_p.A308V|PHRF1_uc009ybz.1_Missense_Mutation_p.A103V	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	312	Arg-rich.						RNA polymerase binding|zinc ion binding				0						CTGGATGAAGCCATCGAGGCT	0.652													T	598413	C	T	598413	3	4	36	1	0	0	0	0	1	0	0	0	11861	739	26	2	965	2	PHRF1	11	598413	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08		598413	134408103	100	33996											
PHRF1	57661	broad.mit.edu	37	chr11	607264	607264	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggggcgcctgtgaggctggActtgccagcagcccctgggg	19	12	0	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr11:607264A>G	uc001lqe.2	+	14	1939	c.1808A>G	c.(1807-1809)GAC>GGC	p.D603G	PHRF1_uc010qwc.1_Missense_Mutation_p.D602G|PHRF1_uc010qwd.1_Missense_Mutation_p.D601G|PHRF1_uc010qwe.1_Missense_Mutation_p.D599G|PHRF1_uc009ybz.1_Missense_Mutation_p.D393G|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	603							RNA polymerase binding|zinc ion binding				0						GTGAGGCTGGACTTGCCAGCA	0.672													G	607264	A	G	607264	3	3	36	1	0	0	0	0	1	0	0	0	11861	275	10	3	1855	3	PHRF1	11	607264	Missense_Mutation	SNP	A	TCGA-BR-6565-01A-11D-1800-08	8851	607264	134399252	101	33997											
RBMXL2	27288	broad.mit.edu	37	chr11	7111351	7111351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagcagttatggccggagcGaccgctactcgaggggccga	16	12	0	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr11:7111351G>A	uc001mfc.2	+	1	1187	c.1000G>A	c.(1000-1002)GAC>AAC	p.D334N		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	334	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGGCCGGAGCGACCGCTACTC	0.647													A	7111351	G	A	7111351	3	1	36	1	0	0	0	0	1	0	0	0	13154	1058	37	1	1002	1	RBMXL2	11	7111351	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	6504087	7111351	127895165	102	33998											
SCUBE2	57758	broad.mit.edu	37	chr11	9048919	9048919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgagacgcacaggttttcCgcatcaccagatagtcccca	9	13	1	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr11:9048919C>T	uc001mhh.1	-	19	2686	c.2606G>A	c.(2605-2607)CGG>CAG	p.R869Q	SCUBE2_uc001mhi.1_Missense_Mutation_p.R841Q|SCUBE2_uc001mhj.1_Intron	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	869	CUB.					extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ACAGGTTTTCCGCATCACCAG	0.592													T	9048919	C	T	9048919	3	4	36	1	0	0	0	0	1	0	0	0	13945	652	23	1	409	1	SCUBE2	11	9048919	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	1937568	9048919	125957597	103	33999											
CCDC73	493860	broad.mit.edu	37	chr11	32635062	32635062	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctgatggatctagtggtctCtccttcagcaacaaagaaat	8	9	4	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr11:32635062C>G	uc001mtv.2	-	16	2846	c.2802G>C	c.(2800-2802)GAG>GAC	p.E934D		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	934										ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)					CTAGTGGTCTCTCCTTCAGCA	0.398													G	32635062	C	G	32635062	3	3	36	1	0	0	0	0	1	0	0	0	2846	912	32	5	449	5	CCDC73	11	32635062	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	23586143	32635062	102371454	104	34000											
OR5M8	219484	broad.mit.edu	37	chr11	56258070	56258070	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gattcctttgaggggggtctGagatacatgaagaaaagggt	15	4	1	4			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr11:56258070G>A	uc001nix.1	-	1	777	c.777C>T	c.(775-777)CTC>CTT	p.L259L		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	259	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)					AGGGGGGTCTGAGATACATGA	0.413													A	56258070	G	A	56258070	2	1	36	1	0	0	0	0	0	0	0	1	11176	1277	45	4		4	OR5M8	11	56258070	Silent	SNP	G	TCGA-BR-6565-01A-11D-1800-08	23623008	56258070	78748446	105	34001											
RTN4RL2	349667	broad.mit.edu	37	chr11	57244117	57244117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcctccaaccacctgtaCggggtggccgaggccggggc	15	15	0	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr11:57244117C>T	uc010rjt.1	+	3	996	c.996C>T	c.(994-996)TAC>TAT	p.Y332Y		NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2 precursor	332					axon regeneration	anchored to plasma membrane	receptor activity				0						ACCACCTGTACGGGGTGGCCG	0.577													T	57244117	C	T	57244117	2	4	36	1	0	0	0	0	0	0	0	1	13732	547	19	1		1	RTN4RL2	11	57244117	Silent	SNP	C	TCGA-BR-6565-01A-11D-1800-08	986047	57244117	77762399	106	34002											
SF3B2	10992	broad.mit.edu	37	chr11	65827302	65827302	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcacgatgtgacagcgcaggAccctaagctcttggttcacc	11	13	2	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr11:65827302A>T	uc001ogy.1	+	13	1491	c.1451A>T	c.(1450-1452)GAC>GTC	p.D484V		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	484					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						ACAGCGCAGGACCCTAAGCTC	0.562													T	65827302	A	T	65827302	3	4	36	1	0	0	0	0	1	0	0	0	14151	275	10	5	1501	5	SF3B2	11	65827302	Missense_Mutation	SNP	A	TCGA-BR-6565-01A-11D-1800-08	8583185	65827302	69179214	107	34003											
TCIRG1	10312	broad.mit.edu	37	chr11	67816583	67816583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccggctgctgctggagaCgctgccggagctcaccttcc	13	16	1	1	rs61730880		TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr11:67816583C>T	uc001one.2	+	15	1817	c.1709C>T	c.(1708-1710)ACG>ATG	p.T570M	TCIRG1_uc001ong.2_Missense_Mutation_p.T354M|TCIRG1_uc001onh.2_Missense_Mutation_p.T272M|TCIRG1_uc001oni.2_Missense_Mutation_p.T74M|TCIRG1_uc009ysd.2_5'Flank	NM_006019	NP_006010	Q13488	VPP3_HUMAN	T-cell, immune regulator 1 isoform a	570	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			ovary(1)	1						CTGCTGGAGACGCTGCCGGAG	0.672													T	67816583	C	T	67816583	3	4	36	1	0	0	0	0	1	0	0	0	15700	536	19	1	1763	1	TCIRG1	11	67816583	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	1989281	67816583	67189933	108	34004											
RSF1	51773	broad.mit.edu	37	chr11	77412169	77412169	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatatttgaatttgctttttTgcatagaaccctttgtctca	5	7	1	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr11:77412169T>C	uc001oyn.2	-	6	2225	c.2105A>G	c.(2104-2106)CAA>CGA	p.Q702R	RSF1_uc001oym.2_Missense_Mutation_p.Q450R	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	702					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTTGCTTTTTTGCATAGAACC	0.403													C	77412169	T	C	77412169	3	2	36	1	0	0	0	0	1	0	0	0	13699	1812	63	3	2264	3	RSF1	11	77412169	Missense_Mutation	SNP	T	TCGA-BR-6565-01A-11D-1800-08	9595586	77412169	57594347	109	34005											
DYNC2H1	79659	broad.mit.edu	37	chr11	103027275	103027275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaagatatagtaaatcaGgttggagataatagatgcct	11	3	1	3			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr11:103027275G>A	uc001pho.2	+	26	4047	c.3903G>A	c.(3901-3903)CAG>CAA	p.Q1301Q	DYNC2H1_uc001phn.1_Silent_p.Q1301Q|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1301	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TAGTAAATCAGGTTGGAGATA	0.343													A	103027275	G	A	103027275	2	1	36	1	0	0	0	0	0	0	0	1	4846	991	35	4		4	DYNC2H1	11	103027275	Silent	SNP	G	TCGA-BR-6565-01A-11D-1800-08	25615106	103027275	31979241	110	34006											
EXPH5	23086	broad.mit.edu	37	chr11	108383768	108383768	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaccttggtctgtcctgggGaaagatggtggtgttctgtg	15	7	2	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr11:108383768G>A	uc001pkk.2	-	6	2577	c.2466C>T	c.(2464-2466)TTC>TTT	p.F822F	EXPH5_uc010rvy.1_Silent_p.F634F|EXPH5_uc010rvz.1_Silent_p.F666F|EXPH5_uc010rwa.1_Silent_p.F746F	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	822					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTGTCCTGGGGAAAGATGGTG	0.388													A	108383768	G	A	108383768	2	1	36	1	0	0	0	0	0	0	0	1	5322	1165	41	4		4	EXPH5	11	108383768	Silent	SNP	G	TCGA-BR-6565-01A-11D-1800-08	5356493	108383768	26622748	111	34007											
ETS1	2113	broad.mit.edu	37	chr11	128359355	128359355	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcccacatcacccagtccCgaacatgggtttctgtccac	7	17	2	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr11:128359355C>A	uc010sbs.1	-	3	549	c.233G>T	c.(232-234)CGG>CTG	p.R78L	ETS1_uc001qej.2_Missense_Mutation_p.R122L|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.R78L	NM_005238	NP_005229	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	78	PNT.				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(4)|central_nervous_system(1)|pleura(1)	6	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		CACCCAGTCCCGAACATGGGT	0.527													A	128359355	C	A	128359355	3	1	36	1	0	0	0	0	1	0	0	0	5275	652	23	5	1116	5	ETS1	11	128359355	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	19975587	128359355	6647161	112	34008											
LRTM2	654429	broad.mit.edu	37	chr12	1943618	1943618	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcctgctaagcccaagcccGgggctgagccggagccggag	16	14	0	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr12:1943618G>C	uc001qjt.2	+	5	1650	c.844G>C	c.(844-846)GGG>CGG	p.G282R	CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.G282R|LRTM2_uc010sdx.1_Missense_Mutation_p.G282R|LRTM2_uc001qjv.2_Missense_Mutation_p.G44R	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	282	Extracellular (Potential).					integral to membrane				large_intestine(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GCCCAAGCCCGGGGCTGAGCC	0.667													C	1943618	G	C	1943618	3	2	36	1	0	0	0	0	1	0	0	0	9045	1116	39	5	854	5	LRTM2	12	1943618	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08		1943618	131908277	113	34009											
CD163L1	283316	broad.mit.edu	37	chr12	7528429	7528429	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagttagaccattccctttTccaaagtgatctcccacaga	5	13	1	3			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr12:7528429T>C	uc001qsy.2	-	10	2579	c.2553A>G	c.(2551-2553)GGA>GGG	p.G851G	CD163L1_uc010sge.1_Silent_p.G861G	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	851	SRCR 8.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						CATTCCCTTTTCCAAAGTGAT	0.448													C	7528429	T	C	7528429	2	2	36	1	0	0	0	0	0	0	0	1	2968	1770	62	3		3	CD163L1	12	7528429	Silent	SNP	T	TCGA-BR-6565-01A-11D-1800-08	5584811	7528429	126323466	114	34010											
SLC2A3	6515	broad.mit.edu	37	chr12	8074090	8074090	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccagatctatctgcaccGtgtgcctgcccttcaaaggc	8	14	3	1	rs146012904		TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr12:8074090G>A	uc001qtr.2	-	10	1672	c.1410C>T	c.(1408-1410)CAC>CAT	p.H470H		NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	470	Cytoplasmic (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		TATCTGCACCGTGTGCCTGCC	0.527													A	8074090	G	A	8074090	2	1	36	1	0	0	0	0	0	0	0	1	14545	1136	40	1		1	SLC2A3	12	8074090	Silent	SNP	G	TCGA-BR-6565-01A-11D-1800-08	545661	8074090	125777805	115	34011											
OVCH1	341350	broad.mit.edu	37	chr12	29596410	29596410	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctgaatgatgtgatttaaaGgggctactaatctccattgg	11	6	1	3			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr12:29596410G>C	uc001rix.1	-	25	3041	c.3041C>G	c.(3040-3042)CCT>CGT	p.P1014R		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	1014					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GTGATTTAAAGGGGCTACTAA	0.338													C	29596410	G	C	29596410	3	2	36	1	0	0	0	0	1	0	0	0	11323	1000	35	5	379	5	OVCH1	12	29596410	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	21522320	29596410	104255485	116	34012											
WNT1	7471	broad.mit.edu	37	chr12	49373448	49373448	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggcagttccggaatcgccGctggaactgtcccactgctc	12	14	0	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr12:49373448G>T	uc001rsu.2	+	2	500	c.302G>T	c.(301-303)CGC>CTC	p.R101L		NM_005430	NP_005421	P04628	WNT1_HUMAN	wingless-type MMTV integration site family,	101					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			kidney(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.244)		CGGAATCGCCGCTGGAACTGT	0.657													T	49373448	G	T	49373448	3	4	36	1	0	0	0	0	1	0	0	0	17378	1087	38	5	308	5	WNT1	12	49373448	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	19777038	49373448	84478447	117	34013											
KRT83	3889	broad.mit.edu	37	chr12	52714852	52714852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggggcgtgaggaggctctCgttgaccgacacggtggtga	19	8	1	3			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr12:52714852C>T	uc001saf.2	-	1	331	c.268G>A	c.(268-270)GAG>AAG	p.E90K		NM_002282	NP_002273	P78385	KRT83_HUMAN	keratin 83	90	Head.				epidermis development	keratin filament	structural molecule activity			skin(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGAGGCTCTCGTTGACCGAC	0.667													T	52714852	C	T	52714852	3	4	36	1	0	0	0	0	1	0	0	0	8497	893	31	1	1249	1	KRT83	12	52714852	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	3341404	52714852	81137043	118	34014											
NEUROD4	58158	broad.mit.edu	37	chr12	55420636	55420636	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggaactatatttgggCtttatctgaagtcctggaga	12	7	1	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr12:55420636C>A	uc001sgp.3	+	2	791	c.413C>A	c.(412-414)GCT>GAT	p.A138D		NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	neurogenic differentiation 4	138	Helix-loop-helix motif.				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4						TATATTTGGGCTTTATCTGAA	0.502													A	55420636	C	A	55420636	3	1	36	1	0	0	0	0	1	0	0	0	10350	797	28	5	415	5	NEUROD4	12	55420636	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	2705784	55420636	78431259	119	34015											
GEFT	115557	broad.mit.edu	37	chr12	58009044	58009044	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggaggtcatgtgctttGtgcccaagcgctgcaacgat	13	10	1	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr12:58009044G>T	uc001spb.2	+	11	1445	c.985G>T	c.(985-987)GTG>TTG	p.V329L	GEFT_uc009zpy.2_Missense_Mutation_p.V368L|GEFT_uc001soz.1_Intron|GEFT_uc001spa.2_Missense_Mutation_p.V223L|uc001spc.2_RNA|GEFT_uc001spd.2_Missense_Mutation_p.V34L	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	RhoA/RAC/CDC42 exchange factor isoform 1	329	DH.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity				0	Melanoma(17;0.122)					CATGTGCTTTGTGCCCAAGCG	0.572													T	58009044	G	T	58009044	3	4	36	1	0	0	0	0	1	0	0	0	6328	1377	48	5	1249	5	GEFT	12	58009044	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	2588408	58009044	75842851	120	34016											
NAV3	89795	broad.mit.edu	37	chr12	78334097	78334097	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccttctctctgttcaacAgatttacactgactgggcca	6	12	3	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr12:78334097A>G	uc001syp.2	+	2	417	c.244_splice	c.e2-2	p.I82_splice	NAV3_uc001syo.2_Splice_Site_p.I82_splice	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3							nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TCTGTTCAACAGATTTACACT	0.443										HNSCC(70;0.22)			G	78334097	A	G	78334097	5	3	36	1	0	0	0	0	0	0	1	0	10185	202	7	3	248	3	NAV3	12	78334097	Splice_Site	SNP	A	TCGA-BR-6565-01A-11D-1800-08	20325053	78334097	55517798	121	34017											
NAV3	89795	broad.mit.edu	37	chr12	78573323	78573323	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcaggatctgtgaatgcaCagaagctgaggcagagataa	12	7	2	4			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr12:78573323C>A	uc001syp.2	+	29	5551	c.5378C>A	c.(5377-5379)ACA>AAA	p.T1793K	NAV3_uc001syo.2_Missense_Mutation_p.T1771K|NAV3_uc010sub.1_Missense_Mutation_p.T1250K|NAV3_uc009zsf.2_Missense_Mutation_p.T602K	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1793						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TGTGAATGCACAGAAGCTGAG	0.468										HNSCC(70;0.22)			A	78573323	C	A	78573323	3	1	36	1	0	0	0	0	1	0	0	0	10185	478	17	5	5422	5	NAV3	12	78573323	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	239226	78573323	55278572	122	34018											
UTP20	27340	broad.mit.edu	37	chr12	101684666	101684666	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acattttttgaatgtttgcaAgtgagttctaatctttaagg	8	4	2	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr12:101684666A>G	uc001tia.1	+	8	1047	c.891A>G	c.(889-891)CAA>CAG	p.Q297Q	UTP20_uc009ztz.1_Silent_p.Q297Q	NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	297					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						AATGTTTGCAAGTGAGTTCTA	0.333													G	101684666	A	G	101684666	2	3	36	1	0	0	0	0	0	0	0	1	17096	86	3	3		3	UTP20	12	101684666	Silent	SNP	A	TCGA-BR-6565-01A-11D-1800-08	23111343	101684666	32167229	123	34019											
TRPV4	59341	broad.mit.edu	37	chr12	110232195	110232195	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgaccatggcacacaggtagGagaccacgttgatgtagaag	13	8	0	4			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr12:110232195G>T	uc001tpj.1	-	7	1525	c.1430C>A	c.(1429-1431)TCC>TAC	p.S477Y	TRPV4_uc001tpg.1_Missense_Mutation_p.S443Y|TRPV4_uc001tph.1_Missense_Mutation_p.S430Y|TRPV4_uc001tpi.1_Missense_Mutation_p.S370Y|TRPV4_uc001tpk.1_Missense_Mutation_p.S477Y|TRPV4_uc001tpl.1_Missense_Mutation_p.S417Y	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	477	Helical; (Potential).				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						ACACAGGTAGGAGACCACGTT	0.627													T	110232195	G	T	110232195	3	4	36	1	0	0	0	0	1	0	0	0	16595	1174	41	5	1221	5	TRPV4	12	110232195	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	8547529	110232195	23619700	124	34020											
TPTE2	93492	broad.mit.edu	37	chr13	20025355	20025355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtttcttatctagaaacCgcacaacttcctaaaaaaga	5	9	2	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr13:20025355C>T	uc001umd.2	-	12	963	c.752G>A	c.(751-753)CGG>CAG	p.R251Q	TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.R140Q|TPTE2_uc001ume.2_Missense_Mutation_p.R174Q|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	251	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATCTAGAAACCGCACAACTTC	0.338													T	20025355	C	T	20025355	3	4	36	1	0	0	0	0	1	0	0	0	16428	652	23	1	856	1	TPTE2	13	20025355	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08		20025355	95144523	125	34021											
NBEA	26960	broad.mit.edu	37	chr13	36223918	36223918	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acactctgccccacttgaccAtccccgcagtggtgacagtg	9	16	1	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr13:36223918A>G	uc001uvb.2	+	51	8040	c.7834A>G	c.(7834-7836)ATC>GTC	p.I2612V	NBEA_uc010abi.2_Missense_Mutation_p.I1268V|NBEA_uc010tee.1_Missense_Mutation_p.I405V|NBEA_uc010tef.1_Missense_Mutation_p.I405V|NBEA_uc001uvd.2_Missense_Mutation_p.I190V	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2612						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CCACTTGACCATCCCCGCAGT	0.468													G	36223918	A	G	36223918	3	3	36	1	0	0	0	0	1	0	0	0	10187	217	8	3	8036	3	NBEA	13	36223918	Missense_Mutation	SNP	A	TCGA-BR-6565-01A-11D-1800-08	16198563	36223918	78945960	126	34022											
PCDH17	27253	broad.mit.edu	37	chr13	58207577	58207577	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctcttctccatcgaccccaaGaccggcctaatccgtgtgaa	7	16	2	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr13:58207577G>C	uc001vhq.1	+	1	1789	c.897G>C	c.(895-897)AAG>AAC	p.K299N	PCDH17_uc010aec.1_Missense_Mutation_p.K299N	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	299	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCGACCCCAAGACCGGCCTAA	0.592													C	58207577	G	C	58207577	3	2	36	1	0	0	0	0	1	0	0	0	11512	933	33	5	899	5	PCDH17	13	58207577	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	21983659	58207577	56962301	127	34023											
ANKRD10	55608	broad.mit.edu	37	chr13	111563089	111563089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacgttgagtgtggctcccGctctcaccaactgcactaag	10	13	1	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr13:111563089G>A	uc001vrn.2	-	2	374	c.239C>T	c.(238-240)GCG>GTG	p.A80V	ANKRD10_uc001vro.1_Missense_Mutation_p.A80V|ANKRD10_uc001vrp.1_Missense_Mutation_p.A80V	NM_017664	NP_060134	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	80	ANK 2.									central_nervous_system(1)	1	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			TGTGGCTCCCGCTCTCACCAA	0.507													A	111563089	G	A	111563089	3	1	36	1	0	0	0	0	1	0	0	0	638	1087	38	1	1043	1	ANKRD10	13	111563089	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	53355512	111563089	3606789	128	34024											
OR4N2	390429	broad.mit.edu	37	chr14	20296431	20296431	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggtggtttctctcttccAcacagtgatttttcctttgt	7	10	2	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr14:20296431A>G	uc010tkv.1	+	1	824	c.824A>G	c.(823-825)CAC>CGC	p.H275R		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	275	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCTCTTCCACACAGTGATT	0.433													G	20296431	A	G	20296431	3	3	36	1	0	0	0	0	1	0	0	0	11077	159	6	3	826	3	OR4N2	14	20296431	Missense_Mutation	SNP	A	TCGA-BR-6565-01A-11D-1800-08		20296431	87053109	129	34025											
AKAP6	9472	broad.mit.edu	37	chr14	33290805	33290805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgaggaccctggttatgaCgaggaggctgataaccatgg	14	7	0	3			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr14:33290805C>T	uc001wrq.2	+	13	3956	c.3786C>T	c.(3784-3786)GAC>GAT	p.D1262D		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1262					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGGTTATGACGAGGAGGCTG	0.453													T	33290805	C	T	33290805	2	4	36	1	0	0	0	0	0	0	0	1	455	535	19	1		1	AKAP6	14	33290805	Silent	SNP	C	TCGA-BR-6565-01A-11D-1800-08	12994374	33290805	74058735	130	34026											
SOS2	6655	broad.mit.edu	37	chr14	50587046	50587046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgaggaggaagaggaggagGaatcaggggctcttcactta	16	6	3	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr14:50587046G>A	uc001wxs.3	-	22	3534	c.3436C>T	c.(3436-3438)CCT>TCT	p.P1146S	SOS2_uc010ans.2_5'UTR|SOS2_uc010tql.1_Missense_Mutation_p.P1113S	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	1146					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					AGAGGAGGAGGAATCAGGGGC	0.378													A	50587046	G	A	50587046	3	1	36	1	0	0	0	0	1	0	0	0	14937	1174	41	4	570	4	SOS2	14	50587046	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	17296241	50587046	56762494	131	34027											
KCNH5	27133	broad.mit.edu	37	chr14	63174364	63174364	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggggtacgcttttttcCgacagtatttttaaaatttc	8	8	0	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr14:63174364C>T	uc001xfx.2	-	11	2880	c.2829G>A	c.(2827-2829)TCG>TCA	p.S943S	KCNH5_uc001xfy.2_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	943	CAD (involved in subunit assembly) (By similarity).|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGCTTTTTTCCGACAGTATTT	0.478													T	63174364	C	T	63174364	2	4	36	1	0	0	0	0	0	0	0	1	8035	639	23	1		1	KCNH5	14	63174364	Silent	SNP	C	TCGA-BR-6565-01A-11D-1800-08	12587318	63174364	44175176	132	34028											
C15orf2	23742	broad.mit.edu	37	chr15	24921098	24921098	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggcgcccccgctcccctGtcccgggacgcctccccgcc	11	24	0	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr15:24921098G>A	uc001ywo.2	+	1	558	c.84G>A	c.(82-84)CTG>CTA	p.L28L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	28					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCGCTCCCCTGTCCCGGGACG	0.706													A	24921098	G	A	24921098	2	1	36	1	0	0	0	0	0	0	0	1	1784	1364	48	4		4	C15orf2	15	24921098	Silent	SNP	G	TCGA-BR-6565-01A-11D-1800-08		24921098	77610294	133	34029											
MEGF11	84465	broad.mit.edu	37	chr15	66191074	66191074	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagacacctaccaacttcaTatatatttttattagatgtc	4	8	1	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr15:66191074T>C	uc002apm.2	-	22	3107	c.2966A>G	c.(2965-2967)TAT>TGT	p.Y989C	MEGF11_uc002apl.2_Missense_Mutation_p.Y914C|MEGF11_uc002apn.1_Missense_Mutation_p.Y989C	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11 precursor	989						basolateral plasma membrane|integral to membrane				pancreas(1)	1						ACCAACTTCATATATATTTTT	0.433													C	66191074	T	C	66191074	3	2	36	1	0	0	0	0	1	0	0	0	9461	1406	49	3	176	3	MEGF11	15	66191074	Missense_Mutation	SNP	T	TCGA-BR-6565-01A-11D-1800-08	41269976	66191074	36340318	134	34030											
NR2F2	7026	broad.mit.edu	37	chr15	96877403	96877403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccactcgtacctgtccggaTatatttccctgctgttgcgc	9	14	0	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr15:96877403T>C	uc010uri.1	+	2	1765	c.541T>C	c.(541-543)TAT>CAT	p.Y181H	NR2F2_uc002btp.2_Missense_Mutation_p.Y48H|NR2F2_uc010urj.1_Missense_Mutation_p.Y28H|NR2F2_uc010urk.1_Missense_Mutation_p.Y28H	NM_021005	NP_066285	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	181	Interaction with ZFPM2 (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(1)	3	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CCTGTCCGGATATATTTCCCT	0.622													C	96877403	T	C	96877403	3	2	36	1	0	0	0	0	1	0	0	0	10628	1406	49	3	594	3	NR2F2	15	96877403	Missense_Mutation	SNP	T	TCGA-BR-6565-01A-11D-1800-08	30686329	96877403	5653989	135	34031											
CLCN7	1186	broad.mit.edu	37	chr16	1505133	1505133	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggcgatggggcaggttAcctccgagtcaaaccttccg	15	11	1	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr16:1505133A>G	uc002clv.2	-	12	1208	c.1098_splice	c.e12+1	p.E366_splice	CLCN7_uc002clw.2_Splice_Site_p.E342_splice	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a							integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)				GGGGCAGGTTACCTCCGAGTC	0.537													G	1505133	A	G	1505133	5	3	36	1	0	0	0	0	0	0	1	0	3468	405	14	3	1373	3	CLCN7	16	1505133	Splice_Site	SNP	A	TCGA-BR-6565-01A-11D-1800-08		1505133	88849620	136	34032											
CD2BP2	10421	broad.mit.edu	37	chr16	30364821	30364821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacccttcagacgcatagCcaaccgttcccttgtttcct	5	16	1	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr16:30364821C>T	uc002dxr.2	-	4	929	c.676G>A	c.(676-678)GCT>ACT	p.A226T	CD2BP2_uc002dxs.2_Missense_Mutation_p.A226T	NM_006110	NP_006101	O95400	CD2B2_HUMAN	CD2 antigen (cytoplasmic tail) binding protein	226					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			ovary(1)	1						AGACGCATAGCCAACCGTTCC	0.632													T	30364821	C	T	30364821	3	4	36	1	0	0	0	0	1	0	0	0	2995	739	26	2	361	2	CD2BP2	16	30364821	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	28859688	30364821	59989932	137	34033											
CNTNAP4	85445	broad.mit.edu	37	chr16	76569621	76569621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggaaatgcagagaaagaCccattgggttcttttgtgac	13	6	1	3			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr16:76569621C>T	uc002feu.1	+	20	3320	c.2935C>T	c.(2935-2937)CCC>TCC	p.P979S	CNTNAP4_uc002fev.1_Missense_Mutation_p.P843S|CNTNAP4_uc010chb.1_Missense_Mutation_p.P906S|CNTNAP4_uc002fex.1_Missense_Mutation_p.P982S	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	979	Extracellular (Potential).|EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						CAGAGAAAGACCCATTGGGTT	0.478													T	76569621	C	T	76569621	3	4	36	1	0	0	0	0	1	0	0	0	3649	507	18	4	3018	4	CNTNAP4	16	76569621	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	46204800	76569621	13785132	138	34034											
TP53	7157	broad.mit.edu	37	chr17	7579368	7579368	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccagacggaaaccgtAgctgccctggtaggttttct	12	11	1	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr17:7579368A>C	uc002gim.2	-	4	513	c.319T>G	c.(319-321)TAC>GAC	p.Y107D	TP53_uc002gig.1_Missense_Mutation_p.Y107D|TP53_uc002gih.2_Missense_Mutation_p.Y107D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.Y107D|TP53_uc010cni.1_Missense_Mutation_p.Y107D|TP53_uc002gij.2_Missense_Mutation_p.Y107D|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.Y68D|TP53_uc010cnk.1_Missense_Mutation_p.Y122D	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	107	Interaction with HIPK1 (By similarity).||Interaction with WWOX.		Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in a sporadic cancer; somatic mutation).|Y -> H (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.Y107*(6)|p.Y107Y(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.S106_Y107delSY(1)|p.G105_T125del21(1)|p.Y107Q(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.Y107D(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107C(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGAAACCGTAGCTGCCCTGG	0.617		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C	7579368	A	C	7579368	3	2	36	1	0	0	0	0	1	0	0	0	16378	420	15	5	983	5	TP53	17	7579368	Missense_Mutation	SNP	A	TCGA-BR-6565-01A-11D-1800-08		7579368	73615842	139	34035											
MYH10	4628	broad.mit.edu	37	chr17	8415782	8415782	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacatacctgaatatgtgctTgcatttttttcttttcattt	4	7	2	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr17:8415782T>G	uc002gll.2	-	22	2942	c.2846A>C	c.(2845-2847)CAA>CCA	p.Q949P	MYH10_uc002glm.2_Missense_Mutation_p.Q980P|MYH10_uc010cnx.2_Missense_Mutation_p.Q958P	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	949	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						AATATGTGCTTGCATTTTTTT	0.308													G	8415782	T	G	8415782	3	3	36	1	0	0	0	0	1	0	0	0	10030	1812	63	5	3164	5	MYH10	17	8415782	Missense_Mutation	SNP	T	TCGA-BR-6565-01A-11D-1800-08	836414	8415782	72779428	140	34036											
SLC13A2	9058	broad.mit.edu	37	chr17	26816245	26816245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaggaggcctactgcgCgtatgccatcatcctcatgg	11	14	2	0	rs78103056		TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr17:26816245C>T	uc002hbh.2	+	2	183	c.116C>T	c.(115-117)GCG>GTG	p.A39V	SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.1_5'UTR|SLC13A2_uc010wan.1_Missense_Mutation_p.A39V|SLC13A2_uc010wao.1_Intron|SLC13A2_uc002hbi.2_5'UTR	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	39						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GCCTACTGCGCGTATGCCATC	0.607													T	26816245	C	T	26816245	3	4	36	1	0	0	0	0	1	0	0	0	14392	768	27	1	122	1	SLC13A2	17	26816245	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	18400463	26816245	54378965	141	34037											
ACACA	31	broad.mit.edu	37	chr17	35454770	35454770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccattgtacttacgctaaTaacacccttctcctgcatcc	3	15	1	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr17:35454770T>C	uc002hnm.2	-	53	6795	c.6604A>G	c.(6604-6606)ATT>GTT	p.I2202V	ACACA_uc002hnk.2_Missense_Mutation_p.I2124V|ACACA_uc002hnl.2_Missense_Mutation_p.I2144V|ACACA_uc002hnn.2_Missense_Mutation_p.I2202V|ACACA_uc002hno.2_Missense_Mutation_p.I2239V|ACACA_uc010cuy.2_Missense_Mutation_p.I847V|ACACA_uc010wdb.1_Missense_Mutation_p.I240V|ACACA_uc010wdc.1_Missense_Mutation_p.I328V	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	2202					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTTACGCTAATAACACCCTTC	0.522													C	35454770	T	C	35454770	3	2	36	1	0	0	0	0	1	0	0	0	106	1406	49	3	452	3	ACACA	17	35454770	Missense_Mutation	SNP	T	TCGA-BR-6565-01A-11D-1800-08	8638525	35454770	45740440	142	34038											
KRT36	8689	broad.mit.edu	37	chr17	39643839	39643839	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagccccacctgggtgttgaAccaggcctccacatctctgc	9	17	1	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr17:39643839A>T	uc002hwt.2	-	4	850	c.850T>A	c.(850-852)TTC>ATC	p.F284I		NM_003771	NP_003762	O76013	KRT36_HUMAN	keratin 36	284	Rod.|Coil 2.					intermediate filament	protein binding|structural constituent of epidermis				0		Breast(137;0.000286)				TGGGTGTTGAACCAGGCCTCC	0.607													T	39643839	A	T	39643839	3	4	36	1	0	0	0	0	1	0	0	0	8473	43	2	5	569	5	KRT36	17	39643839	Missense_Mutation	SNP	A	TCGA-BR-6565-01A-11D-1800-08	4189069	39643839	41551371	143	34039											
LSM12	124801	broad.mit.edu	37	chr17	42114858	42114859	+	Frame_Shift_Ins	INS	-	-	T													atgggggtgtaataacaactINStcttccatgactacgatgtt							TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr17:42114857_42114858C>CT	uc002iev.3	-	4	740_741	c.417_418G>AG	c.(415-420)gaagttfs	p.E139fs	LSM12_uc010wit.2_Intron|LSM12_uc002iew.1_Non-coding_Transcript	NM_152344	NP_689557	Q3MHD2	LSM12_HUMAN	Homo sapiens LSM12 homolog (S. cerevisiae) (LSM12), mRNA.	139							protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	6		Breast(137;0.0313)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTAATAACAACTTCTTCCATGA	0.436													T	42114859	-	T	42114858	7	5	36	1	0	1	1	0	0	0	0	0	9053	1606	56	0	178	0	LSM12	17	42114858	Frame_Shift_Ins	INS	-	TCGA-BR-6565-01A-11D-1800-08	2471019	42114858	39080352	144	34040											
PLCD3	113026	broad.mit.edu	37	chr17	43197709	43197709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttgaagaggaggtaggCgtacatgtcgttcatgtcca	12	9	1	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr17:43197709C>T	uc002iib.2	-	4	781	c.667G>A	c.(667-669)GCC>ACC	p.A223T		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	223	EF-hand 2.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	AGGAGGTAGGCGTACATGTCG	0.572													T	43197709	C	T	43197709	3	4	36	1	0	0	0	0	1	0	0	0	12032	768	27	1	1749	1	PLCD3	17	43197709	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	1082851	43197709	37997501	145	34041											
DDX5	1655	broad.mit.edu	37	chr17	62500356	62500356	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaccagggaaattggcttcAtaaaaatttagaactggctt	8	6	1	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr17:62500356A>C	uc002jek.2	-	3	538	c.291T>G	c.(289-291)TAT>TAG	p.Y97*	CCDC45_uc002jem.2_5'Flank|CCDC45_uc002jen.2_5'Flank|CCDC45_uc010wqb.1_5'Flank|DDX5_uc010deh.2_Nonsense_Mutation_p.Y97*|DDX5_uc002jej.2_5'UTR|DDX5_uc010wqa.1_Intron|DDX5_uc002jel.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5	97	Q motif.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			ovary(2)|lung(1)	3	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			AATTGGCTTCATAAAAATTTA	0.388			T	ETV4	prostate								C	62500356	A	C	62500356	4	2	36	1	0	0	0	0	0	1	0	0	4367	224	8	5	1597	5	DDX5	17	62500356	Nonsense_Mutation	SNP	A	TCGA-BR-6565-01A-11D-1800-08	19302647	62500356	18694854	146	34042											
SOCS3	9021	broad.mit.edu	37	chr17	76354533	76354534	+	Missense_Mutation	DNP	CG	CG	AA													cgtactggtccaggaactccCgaatgggccccggcagctgg							TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr17:76354533_76354534CG>AA	uc002jvl.2	-	2	1059_1060	c.643_644CG>TT	c.(643-645)CGG>TTG	p.R215L		NM_003955	NP_003946	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	215	SOCS box.				anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			CAGGAACTCCCGAATGGGCCCC	0.624													AA	76354534	CG	AA	76354533	3	1	36	1	0	0	0	0	1	0	0	0	14915	652	23	5	37	5	SOCS3	17	76354533	Missense_Mutation	DNP	CG	TCGA-BR-6565-01A-11D-1800-08	13854177	76354533	4840677	147	34043											
USP36	57602	broad.mit.edu	37	chr17	76803161	76803161	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcttagaatctgctccactTggcggcgttttggagtggcc	13	10	2	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr17:76803161T>C	uc002jvz.1	-	14	2290	c.1965A>G	c.(1963-1965)CCA>CCG	p.P655P	USP36_uc002jwa.1_Silent_p.P655P|USP36_uc002jwb.1_Silent_p.P292P|USP36_uc002jwc.1_Silent_p.P355P	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	655					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CTGCTCCACTTGGCGGCGTTT	0.587													C	76803161	T	C	76803161	2	2	36	1	0	0	0	0	0	0	0	1	17064	1799	63	3		3	USP36	17	76803161	Silent	SNP	T	TCGA-BR-6565-01A-11D-1800-08	448628	76803161	4392049	148	34044											
CANT1	124583	broad.mit.edu	37	chr17	76989930	76989930	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctcgctgtagcgctcctggCtggcgcggcgcggcaggaag	17	13	1	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr17:76989930C>G	uc002jwn.2	-	6	1347	c.908G>C	c.(907-909)AGC>ACC	p.S303T	CANT1_uc002jwk.2_Missense_Mutation_p.S303T|CANT1_uc002jwj.2_Missense_Mutation_p.S303T|CANT1_uc002jwl.2_Intron|CANT1_uc002jwm.1_RNA	NM_001159772	NP_001153244	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	303	Lumenal (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity				0			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GCGCTCCTGGCTGGCGCGGCG	0.677			T	ETV4	prostate								G	76989930	C	G	76989930	3	3	36	1	0	0	0	0	1	0	0	0	2617	797	28	5	301	5	CANT1	17	76989930	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	186769	76989930	4205280	149	34045											
C18orf34	374864	broad.mit.edu	37	chr18	30847250	30847250	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agttggtcataaactcttctCaaatcttccagctaagaaag	6	9	4	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr18:30847250C>A	uc002kxn.2	-	12	1330	c.1188G>T	c.(1186-1188)TTG>TTT	p.L396F	C18orf34_uc010dme.1_5'Flank|C18orf34_uc010xbr.1_Missense_Mutation_p.L396F|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.L396F|C18orf34_uc002kxp.2_Missense_Mutation_p.L396F	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	396	Potential.									ovary(1)	1						AAACTCTTCTCAAATCTTCCA	0.264													A	30847250	C	A	30847250	3	1	36	1	0	0	0	0	1	0	0	0	1902	825	29	5	1459	5	C18orf34	18	30847250	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08		30847250	47229998	150	34046											
C18orf54	162681	broad.mit.edu	37	chr18	51904563	51904563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggctttgcaccatttatctCgcctgagagacctggttgat	11	10	1	3			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr18:51904563C>T	uc002lfn.3	+	8	1182	c.1066C>T	c.(1066-1068)CGC>TGC	p.R356C	C18orf54_uc002lfo.3_Missense_Mutation_p.R517C	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	hypothetical protein LOC162681 precursor	356						extracellular region				ovary(1)|skin(1)	2				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		CCATTTATCTCGCCTGAGAGA	0.363													T	51904563	C	T	51904563	3	4	36	1	0	0	0	0	1	0	0	0	1904	884	31	1	1092	1	C18orf54	18	51904563	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	21057313	51904563	26172685	151	34047											
FBN3	84467	broad.mit.edu	37	chr19	8140221	8140221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttggtggcattcacagcGgaagctgcccggggtgttgt	16	10	1	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr19:8140221G>A	uc002mjf.2	-	59	7549	c.7528C>T	c.(7528-7530)CGC>TGC	p.R2510C	FBN3_uc002mje.2_Intron	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2510	EGF-like 41; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CATTCACAGCGGAAGCTGCCC	0.617													A	8140221	G	A	8140221	3	1	36	1	0	0	0	0	1	0	0	0	5704	1116	39	1	921	1	FBN3	19	8140221	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08		8140221	50988762	152	34048											
WIZ	58525	broad.mit.edu	37	chr19	15538061	15538061	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgagatgtgaaggtccgaGgggctgcgggcttccagtga	19	7	0	3			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr19:15538061G>A	uc002nbc.2	-	4	1358	c.1335C>T	c.(1333-1335)CCC>CCT	p.P445P	WIZ_uc002nba.3_Silent_p.P312P|WIZ_uc002nbb.3_Silent_p.P271P	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	1128	Pro-rich.					nucleus	zinc ion binding				0						GAAGGTCCGAGGGGCTGCGGG	0.667													A	15538061	G	A	15538061	2	1	36	1	0	0	0	0	0	0	0	1	17372	987	35	4		4	WIZ	19	15538061	Silent	SNP	G	TCGA-BR-6565-01A-11D-1800-08	7397840	15538061	43590922	153	34049											
PIK3R2	5296	broad.mit.edu	37	chr19	18273284	18273284	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctagtccgagatgcttctagCaagatccagggcgagtacac	11	11	1	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr19:18273284C>G	uc002nia.1	+	9	1589	c.1077C>G	c.(1075-1077)AGC>AGG	p.S359R	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	359	SH2 1.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						ATGCTTCTAGCAAGATCCAGG	0.602													G	18273284	C	G	18273284	3	3	36	1	0	0	0	0	1	0	0	0	11919	709	25	5	1107	5	PIK3R2	19	18273284	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	2735223	18273284	40855699	154	34050											
CLIP3	25999	broad.mit.edu	37	chr19	36515332	36515332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcacgcggtctcccaggCgcaagcccagtgcgctaagc	13	16	1	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr19:36515332C>T	uc010eeq.1	-	6	1166	c.884G>A	c.(883-885)CGC>CAC	p.R295H	uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.R295H	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	295					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTCTCCCAGGCGCAAGCCCAG	0.607													T	36515332	C	T	36515332	3	4	36	1	0	0	0	0	1	0	0	0	3534	768	27	1	791	1	CLIP3	19	36515332	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	18242048	36515332	22613651	155	34051											
KCNK6	9424	broad.mit.edu	37	chr19	38817329	38817329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatgctgctgctgaccgCctcagcccagcgcctgtcac	9	19	2	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr19:38817329C>T	uc002oic.2	+	2	529	c.419C>T	c.(418-420)GCC>GTC	p.A140V	KCNK6_uc002oid.2_Missense_Mutation_p.A6V	NM_004823	NP_004814	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	140	Helical; (Potential).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)	1	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CTGCTGACCGCCTCAGCCCAG	0.667													T	38817329	C	T	38817329	3	4	36	1	0	0	0	0	1	0	0	0	8070	739	26	2	425	2	KCNK6	19	38817329	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08	2301997	38817329	20311654	156	34052											
SPTBN4	57731	broad.mit.edu	37	chr19	41077990	41077990	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttctacaaggactccaaggGcccggcatccgggagcacac	11	15	1	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr19:41077990G>T	uc002ony.2	+	34	7471	c.7385G>T	c.(7384-7386)GGC>GTC	p.G2462V	SPTBN4_uc002onz.2_Missense_Mutation_p.G2462V|SPTBN4_uc010egx.2_Missense_Mutation_p.G1205V	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	2462	PH.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GACTCCAAGGGCCCGGCATCC	0.597													T	41077990	G	T	41077990	3	4	36	1	0	0	0	0	1	0	0	0	15120	1203	42	5	7609	5	SPTBN4	19	41077990	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	2260661	41077990	18050993	157	34053											
GPR32	2854	broad.mit.edu	37	chr19	51274341	51274341	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcgggcgagctggctgGcctttggggtgtggctcctg	19	10	0	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr19:51274341G>C	uc010ycf.1	+	1	484	c.484G>C	c.(484-486)GCC>CCC	p.A162P		NM_001506	NP_001497	O75388	GPR32_HUMAN	G protein-coupled receptor 32	162	Helical; Name=4; (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GAGCTGGCTGGCCTTTGGGGT	0.597													C	51274341	G	C	51274341	3	2	36	1	0	0	0	0	1	0	0	0	6688	1203	42	5	486	5	GPR32	19	51274341	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	10196351	51274341	7854642	158	34054											
ZNF175	7728	broad.mit.edu	37	chr19	52091638	52091638	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccttcaacaacaggtcaaActtcaataaacaccaaacaa	4	12	3	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr19:52091638A>G	uc002pxb.2	+	5	2432	c.2054A>G	c.(2053-2055)AAC>AGC	p.N685S	uc002pxc.1_5'Flank	NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	zinc finger protein 175	685	C2H2-type 15.				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		AACAGGTCAAACTTCAATAAA	0.403													G	52091638	A	G	52091638	3	3	36	1	0	0	0	0	1	0	0	0	17742	43	2	3	2068	3	ZNF175	19	52091638	Missense_Mutation	SNP	A	TCGA-BR-6565-01A-11D-1800-08	817297	52091638	7037345	159	34055											
AVP	551	broad.mit.edu	37	chr20	3065247	3065247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcttgccgcccctcgggCagttctggaagtagcacgcg	12	16	2	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr20:3065247C>T	uc002whu.2	-	1	124	c.74G>A	c.(73-75)TGC>TAC	p.C25Y		NM_000490	NP_000481	P01185	NEU2_HUMAN	arginine vasopressin-neurophysin II	25					cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding				0				COAD - Colon adenocarcinoma(99;0.00643)		GCCCCTCGGGCAGTTCTGGAA	0.642													T	3065247	C	T	3065247	3	4	36	1	0	0	0	0	1	0	0	0	1229	710	25	2	432	2	AVP	20	3065247	Missense_Mutation	SNP	C	TCGA-BR-6565-01A-11D-1800-08		3065247	59960273	160	34056											
C20orf4	25980	broad.mit.edu	37	chr20	34832803	34832803	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagatccccgctgacttcttCgtagacattgtctcccaaga	8	13	2	4			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr20:34832803C>T	uc002xfc.1	+	3	1035	c.942C>T	c.(940-942)TTC>TTT	p.F314F	C20orf4_uc002xfd.1_Silent_p.F314F|C20orf4_uc002xfe.1_Silent_p.F314F	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	hypothetical protein LOC25980	314											0	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)				CTGACTTCTTCGTAGACATTG	0.517													T	34832803	C	T	34832803	2	4	36	1	0	0	0	0	0	0	0	1	2111	883	31	1		1	C20orf4	20	34832803	Silent	SNP	C	TCGA-BR-6565-01A-11D-1800-08	31767556	34832803	28192717	161	34057											
TPTE	7179	broad.mit.edu	37	chr21	10907025	10907025	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtagattatccaattcattTtttggtagataaagcctaag	7	5	1	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr21:10907025T>G	uc002yip.1	-	24	1904	c.1536A>C	c.(1534-1536)AAA>AAC	p.K512N	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.K494N|TPTE_uc002yir.1_Missense_Mutation_p.K474N|TPTE_uc010gkv.1_Missense_Mutation_p.K374N	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	512	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCAATTCATTTTTTGGTAGAT	0.363													G	10907025	T	G	10907025	3	3	36	1	0	0	0	0	1	0	0	0	16427	1838	64	5	123	5	TPTE	21	10907025	Missense_Mutation	SNP	T	TCGA-BR-6565-01A-11D-1800-08		10907025	37222870	162	34058											
ADAMTS1	9510	broad.mit.edu	37	chr21	28212246	28212246	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatctgtagcgcactcgtttGccttcacagtacttccctcc	7	15	2	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chr21:28212246G>C	uc002ymf.2	-	6	2255	c.1800C>G	c.(1798-1800)GGC>GGG	p.G600G		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	600	TSP type-1 1.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		GCACTCGTTTGCCTTCACAGT	0.483													C	28212246	G	C	28212246	2	2	36	1	0	0	0	0	0	0	0	1	255	1306	46	5		5	ADAMTS1	21	28212246	Silent	SNP	G	TCGA-BR-6565-01A-11D-1800-08	17305221	28212246	19917649	163	34059											
RBM10	8241	broad.mit.edu	37	chrX	47030571	47030585	+	In_Frame_Del	DEL	GAGGAGGAGGAGGAT	GAGGAGGAGGAGGAT	-													ccgagcaaggggaggaggagGaggaggaggaggatgaggag							TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chrX:47030570_47030584GGAGGAGGAGGAGGAT>G	uc004dhi.3	+	3	769_783	c.540_554GGAGGAGGAGGAGGAT>G	c.(538-555)gaggaggaggaggaggat>gaGt	p.EEEED181del	RBM10_uc004dhe.2_In_Frame_Del_p.EEEED106del|RBM10_uc004dhf.3_In_Frame_Del_p.EEEED116del|RBM10_uc004dhh.3_In_Frame_Del_p.EEEED116del|RBM10_uc010nhq.3_Intron|RBM10_uc004dhg.3_Intron	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	116	RRM 1.				RNA splicing|mRNA processing	chromatin remodeling complex	RNA binding|nucleotide binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						Gggaggaggaggaggaggaggaggatgaggaggag	0.679													-	47030585	GAGGAGGAGGAGGAT	-	47030571	7	5	36	1	0	1	0	1	0	0	0	0	13111	1175	41	0	356	0	RBM10	23	47030571	In_Frame_Del	DEL	GAGGAGGAGGAGGAT	TCGA-BR-6565-01A-11D-1800-08		47030571	108239989	164	34060											
USP51	158880	broad.mit.edu	37	chrX	55515195	55515195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcacgctcttgtaatgGctccagcttcatctcctcgg	10	14	4	0			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chrX:55515195G>A	uc004dun.1	-	2	257	c.178C>T	c.(178-180)CCA>TCA	p.P60S	USP51_uc011moo.1_Missense_Mutation_p.P5S	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	60					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						TCTTGTAATGGCTCCAGCTTC	0.637													A	55515195	G	A	55515195	3	1	36	1	0	0	0	0	1	0	0	0	17080	1203	42	2	1961	2	USP51	23	55515195	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	8484624	55515195	99755365	165	34061											
POF1B	79983	broad.mit.edu	37	chrX	84586035	84586035	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagatcagcaagcaactcTccaaaatatctggggtccaa	7	12	4	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chrX:84586035T>G	uc004eer.2	-	7	920	c.774A>C	c.(772-774)GGA>GGC	p.G258G	POF1B_uc004ees.2_Silent_p.G258G	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	258							actin binding				0						CAAGCAACTCTCCAAAATATC	0.358													G	84586035	T	G	84586035	2	3	36	1	0	0	0	0	0	0	0	1	12182	1538	54	5		5	POF1B	23	84586035	Silent	SNP	T	TCGA-BR-6565-01A-11D-1800-08	29070840	84586035	70684525	166	34062											
FRMD7	90167	broad.mit.edu	37	chrX	131212239	131212239	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtctaaattctgacccaaaAggaaaacgaatagttttcat	7	7	3	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chrX:131212239A>C	uc004ewn.2	-	12	1984	c.1806T>G	c.(1804-1806)CCT>CCG	p.P602P	FRMD7_uc011muy.1_Silent_p.P587P	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	602					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)					CTGACCCAAAAGGAAAACGAA	0.433													C	131212239	A	C	131212239	2	2	36	1	0	0	0	0	0	0	0	1	6055	59	3	5		5	FRMD7	23	131212239	Silent	SNP	A	TCGA-BR-6565-01A-11D-1800-08	46626204	131212239	24058321	167	34063											
USP26	83844	broad.mit.edu	37	chrX	132161820	132161820	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccttttgctatctcaaaAgatttgctacttgatttctc	4	10	2	2			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chrX:132161820A>C	uc010nrm.1	-	6	899	c.429T>G	c.(427-429)TCT>TCG	p.S143S	USP26_uc011mvf.1_Silent_p.S143S	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	143					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					CTATCTCAAAAGATTTGCTAC	0.408													C	132161820	A	C	132161820	2	2	36	1	0	0	0	0	0	0	0	1	17054	59	3	5		5	USP26	23	132161820	Silent	SNP	A	TCGA-BR-6565-01A-11D-1800-08	949581	132161820	23108740	168	34064											
FLNA	2316	broad.mit.edu	37	chrX	153594681	153594681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcctcccctcacctgccGtaaagatctcaaagtaggtg	9	14	2	1			TCGA-BR-6565-01A-11D-1800-08	TCGA-BR-6565-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f702b28-c460-4265-9d93-83a18b65255f	0ce7327b-a7c7-4d7d-aac6-5d93385d2301	g.chrX:153594681G>A	uc004fkk.2	-	8	1472	c.1223C>T	c.(1222-1224)ACG>ATG	p.T408M	FLNA_uc010nuu.1_Missense_Mutation_p.T408M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	408	Filamin 2.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCACCTGCCGTAAAGATCTC	0.637													A	153594681	G	A	153594681	3	1	36	1	0	0	0	0	1	0	0	0	5933	1145	40	1	6884	1	FLNA	23	153594681	Missense_Mutation	SNP	G	TCGA-BR-6565-01A-11D-1800-08	21432861	153594681	1675879	169	34065											
KLHL17	339451	broad.mit.edu	37	chr1	900386	900386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacggatggttgtacgccGtggggggtaacgacggtagc	19	7	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:900386G>A	uc001aca.1	+	12	1851	c.1744G>A	c.(1744-1746)GTG>ATG	p.V582M	KLHL17_uc001acc.1_RNA|PLEKHN1_uc001acd.2_5'Flank|PLEKHN1_uc001acf.2_5'Flank|PLEKHN1_uc001ace.2_5'Flank	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	kelch-like 17	582	Kelch 6.|Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTTGTACGCCGTGGGGGGTAA	0.657													A	900386	G	A	900386	3	1	37	1	0	0	0	0	1	0	0	0	8372	1145	40	1	1790	1	KLHL17	1	900386	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08		900386	248350235	1	34066											
AGRN	375790	broad.mit.edu	37	chr1	977059	977059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctcctgcagaaagtgcGctccggccagtgccagggtc	12	15	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:977059G>A	uc001ack.1	+	6	1204	c.1154G>A	c.(1153-1155)CGC>CAC	p.R385H		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	385	Kazal-like 3.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CAGAAAGTGCGCTCCGGCCAG	0.736													A	977059	G	A	977059	3	1	37	1	0	0	0	0	1	0	0	0	397	1087	38	1	1176	1	AGRN	1	977059	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	76673	977059	248273562	2	34067											
ATAD3B	83858	broad.mit.edu	37	chr1	1421563	1421563	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagaaccggggcctgtacaGgcacatcctgctgtatgggc	14	11	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:1421563G>T	uc001afv.2	+	10	1138	c.1037G>T	c.(1036-1038)AGG>ATG	p.R346M	ATAD3B_uc001afx.2_Missense_Mutation_p.R300M	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	AAA-ATPase  TOB3	346							ATP binding|nucleoside-triphosphatase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCCTGTACAGGCACATCCTG	0.657													T	1421563	G	T	1421563	3	4	37	1	0	0	0	0	1	0	0	0	1074	1000	35	5	1075	5	ATAD3B	1	1421563	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	444504	1421563	247829058	3	34068											
NADK	65220	broad.mit.edu	37	chr1	1685737	1685737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttaccgtcgccctgcaccGtggtgatgaggtgtccgtcc	12	15	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:1685737G>A	uc009vkw.2	-	9	1050	c.929C>T	c.(928-930)ACG>ATG	p.T310M	NADK_uc001aic.2_Missense_Mutation_p.T310M|NADK_uc001aid.3_Missense_Mutation_p.T310M|NADK_uc001aie.2_Missense_Mutation_p.T455M|NADK_uc010nyv.1_Missense_Mutation_p.T278M|NADK_uc009vkx.1_Missense_Mutation_p.T188M	NM_023018	NP_075394	O95544	NADK_HUMAN	NAD kinase	310					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GCCCTGCACCGTGGTGATGAG	0.647													A	1685737	G	A	1685737	3	1	37	1	0	0	0	0	1	0	0	0	10137	1145	40	1	427	1	NADK	1	1685737	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	264174	1685737	247564884	4	34069											
AJAP1	55966	broad.mit.edu	37	chr1	4832466	4832466	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcctggacatattcacGgcctataacgagaccctgca	9	13	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:4832466G>A	uc001alm.1	+	4	1425	c.1044G>A	c.(1042-1044)ACG>ACA	p.T348T	AJAP1_uc001aln.2_Silent_p.T348T	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	348	Targeting signals.|Cytoplasmic (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACATATTCACGGCCTATAACG	0.612													A	4832466	G	A	4832466	2	1	37	1	0	0	0	0	0	0	0	1	438	1103	39	1		1	AJAP1	1	4832466	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3146729	4832466	244418155	5	34070											
PLEKHG5	57449	broad.mit.edu	37	chr1	6531129	6531129	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccctcctcctccatgcagTagcggatgtagggcttgaag	12	12	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:6531129T>C	uc001ano.1	-	14	1582	c.1481A>G	c.(1480-1482)TAC>TGC	p.Y494C	PLEKHG5_uc001ann.1_Missense_Mutation_p.Y475C|PLEKHG5_uc001anq.1_Missense_Mutation_p.Y515C|PLEKHG5_uc001anp.1_Missense_Mutation_p.Y515C|PLEKHG5_uc001anj.1_5'UTR|PLEKHG5_uc009vma.1_Missense_Mutation_p.Y278C|PLEKHG5_uc010nzr.1_Missense_Mutation_p.Y507C|PLEKHG5_uc001ank.1_Missense_Mutation_p.Y438C|PLEKHG5_uc009vmb.1_Missense_Mutation_p.Y438C|PLEKHG5_uc001anl.1_Missense_Mutation_p.Y438C|PLEKHG5_uc001anm.1_Missense_Mutation_p.Y438C|PLEKHG5_uc001anr.1_5'Flank	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	494	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CTCCATGCAGTAGCGGATGTA	0.527													C	6531129	T	C	6531129	3	2	37	1	0	0	0	0	1	0	0	0	12073	1638	57	3	1743	3	PLEKHG5	1	6531129	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	1698663	6531129	242719492	6	34071											
CLSTN1	22883	broad.mit.edu	37	chr1	9795576	9795576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgggcgtggggaactgcCgggagttcaggtacgagatg	18	8	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:9795576C>T	uc001aqh.2	-	13	2591	c.1832G>A	c.(1831-1833)CGG>CAG	p.R611Q	CLSTN1_uc001aqi.2_Missense_Mutation_p.R601Q|CLSTN1_uc010oag.1_Missense_Mutation_p.R592Q|CLSTN1_uc001aqf.2_5'Flank	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	611	Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GGGGAACTGCCGGGAGTTCAG	0.527													T	9795576	C	T	9795576	3	4	37	1	0	0	0	0	1	0	0	0	3561	652	23	1	1141	1	CLSTN1	1	9795576	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3264447	9795576	239455045	7	34072											
VPS13D	55187	broad.mit.edu	37	chr1	12335954	12335954	+	Frame_Shift_Del	DEL	C	C	-													tagtgatgatgaatataagaCccccctggccacacctccta							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:12335953_12335953AC>A	uc001atv.3	+	18	2449	c.2308_2308AC>A	c.(2308-2310)accfs	p.T770fs	VPS13D_uc001atw.3_Frame_Shift_Del_p.T770fs|VPS13D_uc001atx.3_5'UTR	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	770					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGAATATAAGACCCCCCTGGC	0.458											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	12335954	C	-	12335954	7	5	37	1	0	1	0	1	0	0	0	0	17189	507	18	0	2379	0	VPS13D	1	12335954	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	2540378	12335954	236914667	8	34073											
C1orf158	93190	broad.mit.edu	37	chr1	12806445	12806445	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcagattgagaccaagtatTcaacgaaagtgctcactgga	11	8	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:12806445T>C	uc001auh.2	+	1	283	c.67T>C	c.(67-69)TCA>CCA	p.S23P	C1orf158_uc010obe.1_Missense_Mutation_p.S23P	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	hypothetical protein LOC93190	23										ovary(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GACCAAGTATTCAACGAAAGT	0.478													C	12806445	T	C	12806445	3	2	37	1	0	0	0	0	1	0	0	0	2007	1783	62	3	69	3	C1orf158	1	12806445	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	470491	12806445	236444176	9	34074											
SPEN	23013	broad.mit.edu	37	chr1	16258904	16258904	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagacaaaaacccccctgaaAccgcccctgttgaagttgta	7	14	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:16258904A>G	uc001axk.1	+	11	6373	c.6169A>G	c.(6169-6171)ACC>GCC	p.T2057A	SPEN_uc010obp.1_Missense_Mutation_p.T2016A	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2057					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCCCCCTGAAACCGCCCCTGT	0.493													G	16258904	A	G	16258904	3	3	37	1	0	0	0	0	1	0	0	0	15037	43	2	3	6211	3	SPEN	1	16258904	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	3452459	16258904	232991717	10	34075											
UBR4	23352	broad.mit.edu	37	chr1	19449413	19449413	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatatcccctgctcttctaGcagcttcttgatcccacgca	6	15	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:19449413G>A	uc001bbi.2	-	66	9734	c.9730C>T	c.(9730-9732)CTA>TTA	p.L3244L	UBR4_uc001bbk.1_Silent_p.L891L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3244					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGCTCTTCTAGCAGCTTCTTG	0.562													A	19449413	G	A	19449413	2	1	37	1	0	0	0	0	0	0	0	1	16901	962	34	2		2	UBR4	1	19449413	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3190509	19449413	229801208	11	34076											
C1QC	714	broad.mit.edu	37	chr1	22974057	22974057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactttgtctaccacgcgtcGcatacagccaacctgtgcgt	8	14	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:22974057G>A	uc001bgc.3	+	3	622	c.519G>A	c.(517-519)TCG>TCA	p.S173S	C1QC_uc001bga.3_Silent_p.S173S|C1QC_uc001bgb.2_Silent_p.S173S	NM_172369	NP_758957	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	173	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCACGCGTCGCATACAGCCA	0.582													A	22974057	G	A	22974057	2	1	37	1	0	0	0	0	0	0	0	1	1957	1074	38	1		1	C1QC	1	22974057	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3524644	22974057	226276564	12	34077											
LUZP1	7798	broad.mit.edu	37	chr1	23418649	23418649	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttatcattctcaaatagggaGgttctaggtgcccctcgggt	11	9	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:23418649G>T	uc001bgk.2	-	4	2490	c.2106C>A	c.(2104-2106)ACC>ACA	p.T702T	LUZP1_uc010odv.1_Silent_p.T702T|LUZP1_uc001bgl.2_Silent_p.T702T|LUZP1_uc001bgm.1_Silent_p.T702T	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	702						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CAAATAGGGAGGTTCTAGGTG	0.468													T	23418649	G	T	23418649	2	4	37	1	0	0	0	0	0	0	0	1	9086	987	35	5		5	LUZP1	1	23418649	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	444592	23418649	225831972	13	34078											
IL28RA	163702	broad.mit.edu	37	chr1	24484052	24484052	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaagcagaggagccttcGcttgggaccagaggagccct	13	13	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:24484052G>A	uc001bis.2	-	7	1144	c.1131C>T	c.(1129-1131)AGC>AGT	p.S377S	IL28RA_uc001bir.2_Silent_p.S348S|IL28RA_uc001bit.2_3'UTR|IL28RA_uc001biu.2_Silent_p.S293S	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	interleukin 28 receptor, alpha isoform 1	377	Cytoplasmic (Potential).				cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		AGGAGCCTTCGCTTGGGACCA	0.622													A	24484052	G	A	24484052	2	1	37	1	0	0	0	0	0	0	0	1	7684	1078	38	1		1	IL28RA	1	24484052	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1065403	24484052	224766569	14	34079											
RUNX3	864	broad.mit.edu	37	chr1	25254159	25254159	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgcagctcagcggagtagttCtcgtcattgcctgccatcac	10	14	4	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:25254159C>A	uc001bjq.2	-	2	756	c.345G>T	c.(343-345)GAG>GAT	p.E115D	RUNX3_uc010oen.1_Missense_Mutation_p.E115D|RUNX3_uc009vrj.2_Missense_Mutation_p.E129D|RUNX3_uc001bjr.2_Missense_Mutation_p.E129D	NM_004350	NP_004341	Q13761	RUNX3_HUMAN	runt-related transcription factor 3 isoform 2	115	Runt.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CGGAGTAGTTCTCGTCATTGC	0.627													A	25254159	C	A	25254159	3	1	37	1	0	0	0	0	1	0	0	0	13749	912	32	5	918	5	RUNX3	1	25254159	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	770107	25254159	223996462	15	34080											
SEPN1	57190	broad.mit.edu	37	chr1	26135608	26135608	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctgtggcctgcctgactgCcatcagcgacttctactaca	9	14	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:26135608C>A	uc010oer.1	+	8	894	c.839C>A	c.(838-840)GCC>GAC	p.A280D	SEPN1_uc010oes.1_Missense_Mutation_p.A246D	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	selenoprotein N, 1 isoform 1 precursor	280						endoplasmic reticulum membrane|extracellular region	protein binding			ovary(2)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTGACTGCCATCAGCGAC	0.627													A	26135608	C	A	26135608	3	1	37	1	0	0	0	0	1	0	0	0	14056	739	26	5	861	5	SEPN1	1	26135608	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	881449	26135608	223115013	16	34081											
CATSPER4	378807	broad.mit.edu	37	chr1	26524495	26524495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggtggagcccctcgcccGgatcatccgcgtcatcctgc	13	17	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:26524495G>A	uc010oez.1	+	5	605	c.605G>A	c.(604-606)CGG>CAG	p.R202Q	CATSPER4_uc010oey.1_Missense_Mutation_p.R24Q|CATSPER4_uc009vsf.2_RNA	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	202	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTCGCCCGGATCATCCGC	0.652													A	26524495	G	A	26524495	3	1	37	1	0	0	0	0	1	0	0	0	2690	1116	39	1	623	1	CATSPER4	1	26524495	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	388887	26524495	222726126	17	34082											
DHDDS	79947	broad.mit.edu	37	chr1	26795537	26795537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacaaactctcggccagacGggaagagcgagtccaaggct	13	12	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:26795537G>A	uc001bml.2	+	9	1038	c.917G>A	c.(916-918)CGG>CAG	p.R306Q	DHDDS_uc001bmk.2_Missense_Mutation_p.R307Q|DHDDS_uc001bmm.2_Missense_Mutation_p.R213Q|DHDDS_uc001bmn.2_Missense_Mutation_p.R267Q|DHDDS_uc010ofd.1_Missense_Mutation_p.R272Q|uc001bmo.1_5'Flank	NM_205861	NP_995583	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase isoform b	306							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(3)	3		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TCGGCCAGACGGGAAGAGCGA	0.637													A	26795537	G	A	26795537	3	1	37	1	0	0	0	0	1	0	0	0	4478	1116	39	1	950	1	DHDDS	1	26795537	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	271042	26795537	222455084	18	34083											
SDC3	9672	broad.mit.edu	37	chr1	31349853	31349853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccaccagggggctggtgGctggctccagggtggggcgc	19	12	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:31349853G>A	uc001bse.2	-	3	463	c.416C>T	c.(415-417)GCC>GTC	p.A139V	SDC3_uc001bsd.2_Missense_Mutation_p.A81V	NM_014654	NP_055469	O75056	SDC3_HUMAN	syndecan 3	139	Extracellular (Potential).|Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGCTGGTGGCTGGCTCCAG	0.652													A	31349853	G	A	31349853	3	1	37	1	0	0	0	0	1	0	0	0	13953	1203	42	2	924	2	SDC3	1	31349853	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	4554316	31349853	217900768	19	34084											
KPNA6	23633	broad.mit.edu	37	chr1	32628122	32628122	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggagattggtagagctgcTgatgtgagtggtcttagaag	16	5	1	5			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:32628122T>C	uc001bug.2	+	9	996	c.908T>C	c.(907-909)CTG>CCG	p.L303P	KPNA6_uc001buh.2_Missense_Mutation_p.L78P|KPNA6_uc010ogx.1_Missense_Mutation_p.L300P|KPNA6_uc010ogy.1_Missense_Mutation_p.L308P|KPNA6_uc009vtz.2_Missense_Mutation_p.L198P	NM_012316	NP_036448	O60684	IMA7_HUMAN	karyopherin alpha 6	303	ARM 6.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GTAGAGCTGCTGATGTGAGTG	0.353													C	32628122	T	C	32628122	3	2	37	1	0	0	0	0	1	0	0	0	8434	1580	55	3	942	3	KPNA6	1	32628122	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	1278269	32628122	216622499	20	34085											
MARCKSL1	65108	broad.mit.edu	37	chr1	32800540	32800541	+	Frame_Shift_Ins	INS	-	-	G													tcttcttgggggtctccttgINSggggggacctcccccttggc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:32800539_32800540T>TG	uc001bvd.3	-	1	446_447	c.246_247A>CA	c.(244-249)cccaagfs	p.P82fs		NM_023009	NP_075385	P49006	MRP_HUMAN	Homo sapiens MARCKS-like 1 (MARCKSL1), mRNA.	82						plasma membrane	calmodulin binding	p.K83fs*33(4)		breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGGGTCTCCTTGGGGGGGACCT	0.589													G	32800541	-	G	32800540	7	5	37	1	0	1	1	0	0	0	0	0	9310	1335	47	0	345	0	MARCKSL1	1	32800540	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	172418	32800540	216450081	21	34086											
KIAA1522	57648	broad.mit.edu	37	chr1	33233495	33233495	+	Frame_Shift_Del	DEL	C	C	-													tcttctttcccagtgggcgaCccccccacctggaagagctg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:33233494_33233494AC>A	uc001bvu.1	+	1	386	c.342_342AC>A	c.(340-342)cgafs	p.R114fs	KIAA1522_uc010ohm.1_Frame_Shift_Del_p.R66fs|KIAA1522_uc001bvv.2_Frame_Shift_Del_p.R55fs|KIAA1522_uc010ohn.1_Frame_Shift_Del_p.R55fs	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	55			S -> P (in dbSNP:rs3737994).							breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGTGGGCGACCCCCCCACC	0.617													-	33233495	C	-	33233495	7	5	37	1	0	1	0	1	0	0	0	0	8238	507	18	0	349	0	KIAA1522	1	33233495	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	432955	33233495	216017126	22	34087											
TRIM62	55223	broad.mit.edu	37	chr1	33623854	33623854	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgataacccatgccttacCtgggtggatgtcctggaaca	10	11	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:33623854C>A	uc001bxb.2	-	4	1515	c.877G>T	c.(877-879)GTG>TTG	p.V293L		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	293	B30.2/SPRY.					intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)				CATGCCTTACCTGGGTGGATG	0.567													A	33623854	C	A	33623854	3	1	37	1	0	0	0	0	1	0	0	0	16534	695	24	5	558	5	TRIM62	1	33623854	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	390359	33623854	215626767	23	34088											
NCDN	23154	broad.mit.edu	37	chr1	36031043	36031043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgccctggctggcccccGctgccctgcgctcccgctgg	13	20	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:36031043G>A	uc001bza.2	+	8	2096	c.1969G>A	c.(1969-1971)GCT>ACT	p.A657T	NCDN_uc001bzb.2_Missense_Mutation_p.A657T|NCDN_uc001bzc.2_Missense_Mutation_p.A640T	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	657					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCTGGCCCCCGCTGCCCTGCG	0.677													A	36031043	G	A	36031043	3	1	37	1	0	0	0	0	1	0	0	0	10214	1087	38	1	1995	1	NCDN	1	36031043	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2407189	36031043	213219578	24	34089											
EIF2C4	192670	broad.mit.edu	37	chr1	36306800	36306800	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagcctgtcatcttcctgGgagcggatgtcacacacccc	10	15	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:36306800G>T	uc001bzj.1	+	14	1949	c.1759G>T	c.(1759-1761)GGA>TGA	p.G587*		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	eukaryotic translation initiation factor 2C, 4	587	Piwi.				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)				CATCTTCCTGGGAGCGGATGT	0.532													T	36306800	G	T	36306800	4	4	37	1	0	0	0	0	0	1	0	0	5008	1233	43	5	1813	5	EIF2C4	1	36306800	Nonsense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	275757	36306800	212943821	25	34090											
EIF2C3	192669	broad.mit.edu	37	chr1	36520603	36520603	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgataactgctttactgcAgatgaacttcagctgctaac	8	9	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:36520603A>G	uc001bzp.2	+	18	2587	c.2331A>G	c.(2329-2331)GCA>GCG	p.A777A	EIF2C3_uc001bzq.2_Silent_p.A543A	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	777	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)				GCTTTACTGCAGATGAACTTC	0.433													G	36520603	A	G	36520603	2	3	37	1	0	0	0	0	0	0	0	1	5007	175	7	3		3	EIF2C3	1	36520603	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	213803	36520603	212730018	26	34091											
HEYL	26508	broad.mit.edu	37	chr1	40098329	40098329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggacactcacccctctgtGtttcttcctggcttgcatct	7	15	4	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:40098329G>A	uc001cdp.2	-	2	190	c.139C>T	c.(139-141)CGC>TGC	p.R47C	HEYL_uc010oiw.1_Missense_Mutation_p.H19Y	NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	hairy/enhancer-of-split related with YRPW	47	Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).|Basic motif.				multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACCCCTCTGTGTTTCTTCCTG	0.567													A	40098329	G	A	40098329	3	1	37	1	0	0	0	0	1	0	0	0	7080	1377	48	4	863	4	HEYL	1	40098329	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3577726	40098329	209152292	27	34092											
HPCAL4	51440	broad.mit.edu	37	chr1	40149756	40149756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggaagtcgatggtgccGtcgccgttcttgtcgaaggt	14	11	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:40149756G>A	uc001cdr.2	-	3	351	c.231C>T	c.(229-231)GAC>GAT	p.D77D	HPCAL4_uc010oix.1_Intron	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	hippocalcin-like protein 4	77	EF-hand 2.|1 (Potential).				central nervous system development	intracellular	calcium ion binding			central_nervous_system(1)	1	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGATGGTGCCGTCGCCGTTCT	0.647													A	40149756	G	A	40149756	2	1	37	1	0	0	0	0	0	0	0	1	7331	1136	40	1		1	HPCAL4	1	40149756	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	51427	40149756	209100865	28	34093											
RLF	6018	broad.mit.edu	37	chr1	40705239	40705239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaagctgtgaatcagagcGcacagaacacagccattccc	9	12	1	4	rs150236303		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:40705239G>A	uc001cfc.3	+	8	4896	c.4865G>A	c.(4864-4866)CGC>CAC	p.R1622H	RLF_uc001cfd.3_Missense_Mutation_p.R1313H	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1622					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GAATCAGAGCGCACAGAACAC	0.463													A	40705239	G	A	40705239	3	1	37	1	0	0	0	0	1	0	0	0	13389	1087	38	1	4895	1	RLF	1	40705239	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	555483	40705239	208545382	29	34094											
RIMKLA	284716	broad.mit.edu	37	chr1	42880412	42880412	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggaaagatggctgtcctcCcaggactgtcgagtccaagg	13	11	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:42880412C>A	uc001chi.2	+	5	1081	c.943C>A	c.(943-945)CCA>ACA	p.P315T		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family	315					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						GGCTGTCCTCCCAGGACTGTC	0.532													A	42880412	C	A	42880412	3	1	37	1	0	0	0	0	1	0	0	0	13365	623	22	5	961	5	RIMKLA	1	42880412	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2175173	42880412	206370209	30	34095											
PTCH2	8643	broad.mit.edu	37	chr1	45288194	45288194	+	Frame_Shift_Del	DEL	G	G	-													atggatgtaggcaccaggcaGggggggtgggtggatggcca							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:45288193_45288193AG>A	uc010olf.2	-	21	3518	c.3506_3506CT>T	c.(3505-3507)ctgfs	p.L1169fs	PTCH2_uc021omv.1_Intron|PTCH2_uc010olg.2_Frame_Shift_Del_p.L867fs	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	1169					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGCACCAGGCAGGGGGGGTGG	0.657									Basal Cell Nevus syndrome				-	45288194	G	-	45288194	7	5	37	1	0	1	0	1	0	0	0	0	12731	991	35	0	130	0	PTCH2	1	45288194	Frame_Shift_Del	DEL	G	TCGA-BR-6566-01A-11D-1800-08	2407782	45288194	203962427	31	34096											
ZSWIM5	57643	broad.mit.edu	37	chr1	45484698	45484698	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaacagctgtgaatgggTcataccaccagcagcagcat	12	10	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:45484698T>C	uc001cnd.2	-	14	3214	c.2986A>G	c.(2986-2988)ACC>GCC	p.T996A		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	996							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					TGTGAATGGGTCATACCACCA	0.552											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	45484698	T	C	45484698	3	2	37	1	0	0	0	0	1	0	0	0	18241	1667	58	3	575	3	ZSWIM5	1	45484698	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	196504	45484698	203765923	32	34097											
ZFYVE9	9372	broad.mit.edu	37	chr1	52705193	52705193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgggtaccggattctcagGctccaaattgcatgaaatgt	10	8	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:52705193G>A	uc001cto.2	+	4	2276	c.2104G>A	c.(2104-2106)GCT>ACT	p.A702T	ZFYVE9_uc001ctn.2_Missense_Mutation_p.A702T|ZFYVE9_uc001ctp.2_Missense_Mutation_p.A702T	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	702	FYVE-type.				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						GGATTCTCAGGCTCCAAATTG	0.473													A	52705193	G	A	52705193	3	1	37	1	0	0	0	0	1	0	0	0	17668	1203	42	2	2110	2	ZFYVE9	1	52705193	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	7220495	52705193	196545428	33	34098											
ZCCHC11	23318	broad.mit.edu	37	chr1	52911986	52911986	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctcaaaagttgtcaaCagctttttctgccgaatgct	7	10	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:52911986C>T	uc001ctx.2	-	22	3876	c.3642G>A	c.(3640-3642)CTG>CTA	p.L1214L	ZCCHC11_uc001cty.2_Silent_p.L1214L|ZCCHC11_uc001ctz.2_Silent_p.L1214L|ZCCHC11_uc009vze.1_Silent_p.L1214L|ZCCHC11_uc009vzf.1_Silent_p.L935L|ZCCHC11_uc001cua.1_Silent_p.L131L	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	1214	PAP-associated 2.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						AAGTTGTCAACAGCTTTTTCT	0.388													T	52911986	C	T	52911986	2	4	37	1	0	0	0	0	0	0	0	1	17577	465	17	4		4	ZCCHC11	1	52911986	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	206793	52911986	196338635	34	34099											
TTC4	7268	broad.mit.edu	37	chr1	55197241	55197241	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggtgagcttttcctggatgGactcagcactgagaaccccc	11	12	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:55197241G>T	uc001cxx.3	+	7	817	c.764G>T	c.(763-765)GGA>GTA	p.G255V	C1orf175_uc001cxq.2_Intron|TTC4_uc001cxw.3_Intron|TTC4_uc001cxv.2_Missense_Mutation_p.G266V	NM_004623	NP_004614	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	255							binding				0						TTCCTGGATGGACTCAGCACT	0.542													T	55197241	G	T	55197241	3	4	37	1	0	0	0	0	1	0	0	0	16707	1174	41	5	790	5	TTC4	1	55197241	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2285255	55197241	194053380	35	34100											
C1orf177	163747	broad.mit.edu	37	chr1	55273338	55273338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccacttccagtaccaggCcatcatgaaagagaagcggc	9	14	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:55273338C>T	uc001cyb.3	+	3	386	c.332C>T	c.(331-333)GCC>GTC	p.A111V	C1orf177_uc001cya.3_Missense_Mutation_p.A111V	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	hypothetical protein LOC163747 isoform 2	111											0						CAGTACCAGGCCATCATGAAA	0.607													T	55273338	C	T	55273338	3	4	37	1	0	0	0	0	1	0	0	0	2017	739	26	2	342	2	C1orf177	1	55273338	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	76097	55273338	193977283	36	34101											
EFCAB7	84455	broad.mit.edu	37	chr1	63998360	63998360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagaggtgagaagatgactcGagaagaagtaaatgccataa	13	4	0	6			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:63998360G>A	uc001dbf.2	+	4	713	c.419G>A	c.(418-420)CGA>CAA	p.R140Q		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	140	EF-hand 2.						calcium ion binding				0						AAGATGACTCGAGAAGAAGTA	0.323													A	63998360	G	A	63998360	3	1	37	1	0	0	0	0	1	0	0	0	4940	1058	37	1	429	1	EFCAB7	1	63998360	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	8725022	63998360	185252261	37	34102											
NEGR1	257194	broad.mit.edu	37	chr1	72241870	72241870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttacctgatggggagatgtGtcgccaagaaatggaaggct	14	6	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:72241870G>A	uc001dfw.2	-	3	620	c.520C>T	c.(520-522)CAC>TAC	p.H174Y	NEGR1_uc001dfv.2_Missense_Mutation_p.H46Y|NEGR1_uc010oqs.1_Missense_Mutation_p.H174Y	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1 precursor	174	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				ovary(1)	1		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GGGGAGATGTGTCGCCAAGAA	0.423													A	72241870	G	A	72241870	3	1	37	1	0	0	0	0	1	0	0	0	10317	1377	48	4	564	4	NEGR1	1	72241870	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	8243510	72241870	177008751	38	34103											
CCBL2	56267	broad.mit.edu	37	chr1	89408705	89408705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactttaatgaagcaaaaacGcacaaacttctcaaactgtg	5	9	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:89408705G>A	uc001dmp.2	-	13	1662	c.1285C>T	c.(1285-1287)CGT>TGT	p.R429C	CCBL2_uc001dmq.2_Missense_Mutation_p.R395C|CCBL2_uc001dmr.2_Missense_Mutation_p.R265C	NM_001008661	NP_001008661	Q6YP21	KAT3_HUMAN	kynurenine aminotransferase III isoform 1	429		Substrate (By similarity).			biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			ovary(1)	1		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AAGCAAAAACGCACAAACTTC	0.294													A	89408705	G	A	89408705	3	1	37	1	0	0	0	0	1	0	0	0	2733	1087	38	1	87	1	CCBL2	1	89408705	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	17166835	89408705	159841916	39	34104											
GBP7	388646	broad.mit.edu	37	chr1	89613322	89613323	+	Frame_Shift_Ins	INS	-	-	C													cttctaagtagatattgtgcINSccccccggaacaaagaaagt					rs138127555		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:89613321_89613322G>GC	uc001dna.2	-	7	1432_1433	c.1293_1294C>GC	c.(1291-1296)gggcacfs	p.G431fs	GBP2_uc001dmy.1_Non-coding_Transcript	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	431						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436													C	89613323	-	C	89613322	7	5	37	1	0	1	1	0	0	0	0	0	6279	726	26	0	639	0	GBP7	1	89613322	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	204617	89613322	159637299	40	34105											
GBP5	115362	broad.mit.edu	37	chr1	89730595	89730595	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggactgcattctctatgcaaGgcagatccccactgctgatg	10	12	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:89730595G>T	uc001dnc.2	-	8	1460	c.923C>A	c.(922-924)CCT>CAT	p.P308H	GBP5_uc001dnd.2_Missense_Mutation_p.P308H|GBP5_uc001dne.1_Missense_Mutation_p.P308H	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	308						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)		CTCTATGCAAGGCAGATCCCC	0.468													T	89730595	G	T	89730595	3	4	37	1	0	0	0	0	1	0	0	0	6277	1000	35	5	857	5	GBP5	1	89730595	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	117273	89730595	159520026	41	34106											
GBP5	115362	broad.mit.edu	37	chr1	89732816	89732816	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttcttgccttgagcagaTctgtcagttctgtcacattg	9	9	5	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:89732816T>C	uc001dnc.2	-	6	986	c.449A>G	c.(448-450)GAT>GGT	p.D150G	GBP5_uc001dnd.2_Missense_Mutation_p.D150G|GBP5_uc001dne.1_Missense_Mutation_p.D150G	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	150						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)		CTTGAGCAGATCTGTCAGTTC	0.448													C	89732816	T	C	89732816	3	2	37	1	0	0	0	0	1	0	0	0	6277	1435	50	3	1339	3	GBP5	1	89732816	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	2221	89732816	159517805	42	34107											
LRRC8D	55144	broad.mit.edu	37	chr1	90399510	90399510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagaaagtgaggaagttcCgtgcccatgtggaagatagt	14	5	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:90399510C>T	uc001dnm.2	+	3	1308	c.883C>T	c.(883-885)CGT>TGT	p.R295C	LRRC8D_uc001dnn.2_Missense_Mutation_p.R295C	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	295						integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GAGGAAGTTCCGTGCCCATGT	0.428													T	90399510	C	T	90399510	3	4	37	1	0	0	0	0	1	0	0	0	9024	652	23	1	885	1	LRRC8D	1	90399510	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	666694	90399510	158851111	43	34108											
TGFBR3	7049	broad.mit.edu	37	chr1	92184955	92184955	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agactccaaaacaaagtgtgTgccattcatcttggccttgc	8	11	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:92184955T>C	uc001doh.2	-	10	1946	c.1480A>G	c.(1480-1482)ACA>GCA	p.T494A	TGFBR3_uc009wde.2_Missense_Mutation_p.T271A|TGFBR3_uc010osy.1_Missense_Mutation_p.T452A|TGFBR3_uc001doi.2_Missense_Mutation_p.T493A|TGFBR3_uc001doj.2_Missense_Mutation_p.T493A	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	494	ZP.|Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ACAAAGTGTGTGCCATTCATC	0.532													C	92184955	T	C	92184955	3	2	37	1	0	0	0	0	1	0	0	0	15820	1696	59	3	1107	3	TGFBR3	1	92184955	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	1785445	92184955	157065666	44	34109											
RPAP2	79871	broad.mit.edu	37	chr1	92811469	92811469	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgctatggtgttgctgtcAttgtaagtactctctcagat	9	7	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:92811469A>G	uc001dot.2	+	11	1795	c.1686A>G	c.(1684-1686)TCA>TCG	p.S562S	RPAP2_uc009wdh.2_RNA	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	562	Helical; (Potential).					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TGTTGCTGTCATTGTAAGTAC	0.323													G	92811469	A	G	92811469	2	3	37	1	0	0	0	0	0	0	0	1	13542	204	8	3		3	RPAP2	1	92811469	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	626514	92811469	156439152	45	34110											
ABCA4	24	broad.mit.edu	37	chr1	94476454	94476454	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggttcttcccaatcaggtcCcagtggaacggatttgcaga	11	10	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:94476454C>A	uc001dqh.2	-	40	5720	c.5616G>T	c.(5614-5616)TGG>TGT	p.W1872C	ABCA4_uc001dqi.1_5'UTR|ABCA4_uc009wdp.1_Missense_Mutation_p.W140C	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	1872					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAATCAGGTCCCAGTGGAACG	0.582													A	94476454	C	A	94476454	3	1	37	1	0	0	0	0	1	0	0	0	34	624	22	5	1249	5	ABCA4	1	94476454	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1664985	94476454	154774167	46	34111											
HIAT1	64645	broad.mit.edu	37	chr1	100534122	100534123	+	Frame_Shift_Ins	INS	-	-	T													ggcaggccaatattccagctINStttttttatacctcagacag							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:100534121_100534122C>CT	uc001dst.3	+	6	798_799	c.798_799C>CT	c.(796-801)agctttfs	p.S266fs		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	Homo sapiens hippocampus abundant transcript 1 (HIAT1), mRNA.	266					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		AATATTCCAGCTTTTTTTTATA	0.386													T	100534123	-	T	100534122	7	5	37	1	0	1	1	0	0	0	0	0	7097	1609	56	0	825	0	HIAT1	1	100534122	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	6057668	100534122	148716499	47	34112											
DPH5	51611	broad.mit.edu	37	chr1	101456138	101456138	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctgcaattttctggtcGtcggctccaaccctggctaa	9	14	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:101456138G>A	uc001dts.2	-	8	831	c.684C>T	c.(682-684)GAC>GAT	p.D228D	DPH5_uc001dtr.2_Silent_p.D227D|DPH5_uc001dtq.2_RNA|DPH5_uc001dtt.2_Silent_p.D228D|DPH5_uc001dtu.2_RNA|DPH5_uc001dtv.2_RNA|DPH5_uc001dtw.2_RNA|DPH5_uc001dtx.2_Nonsense_Mutation_p.R193*|DPH5_uc001dty.2_Silent_p.D107D|DPH5_uc001dtz.2_RNA	NM_015958	NP_057042	Q9H2P9	DPH5_HUMAN	diphthine synthase isoform a	228					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity				0		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TTTTCTGGTCGTCGGCTCCAA	0.443													A	101456138	G	A	101456138	2	1	37	1	0	0	0	0	0	0	0	1	4723	1136	40	1		1	DPH5	1	101456138	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	922016	101456138	147794483	48	34113											
NTNG1	22854	broad.mit.edu	37	chr1	107691419	107691419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtgaaactcgatcctccGgatattacctgtggagaccc	9	11	0	2	rs147345058	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:107691419G>A	uc001dvh.3	+	2	922	c.204G>A	c.(202-204)CCG>CCA	p.P68P	NTNG1_uc001dvf.3_Silent_p.P68P|NTNG1_uc010out.1_Silent_p.P68P|NTNG1_uc001dvc.3_Silent_p.P68P|NTNG1_uc001dvd.1_Silent_p.P68P	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	68	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TCGATCCTCCGGATATTACCT	0.438													A	107691419	G	A	107691419	2	1	37	1	0	0	0	0	0	0	0	1	10704	1103	39	1		1	NTNG1	1	107691419	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	6235281	107691419	141559202	49	34114											
EPS8L3	79574	broad.mit.edu	37	chr1	110301215	110301215	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatagcgtgcctgctccaTagggagcggcctttccatag	12	12	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:110301215T>C	uc001dyr.1	-	7	677	c.532A>G	c.(532-534)ATG>GTG	p.M178V	EPS8L3_uc001dys.1_Missense_Mutation_p.M178V|EPS8L3_uc001dyq.1_Missense_Mutation_p.M179V|EPS8L3_uc009wfm.1_Missense_Mutation_p.M145V|EPS8L3_uc009wfn.1_Missense_Mutation_p.M145V|EPS8L3_uc009wfo.1_Missense_Mutation_p.M125V	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	178	Pro-rich.					cytoplasm	protein binding			ovary(2)|skin(1)	3		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GCCTGCTCCATAGGGAGCGGC	0.617													C	110301215	T	C	110301215	3	2	37	1	0	0	0	0	1	0	0	0	5197	1406	49	3	1301	3	EPS8L3	1	110301215	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	2609796	110301215	138949406	50	34115											
C1orf103	55791	broad.mit.edu	37	chr1	111490937	111490937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttccccatttatgattgCgttataagcattctctgttt	6	9	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:111490937C>T	uc001eaa.2	-	4	2210	c.1954G>A	c.(1954-1956)GCA>ACA	p.A652T	C1orf103_uc001dzz.2_Missense_Mutation_p.A116T|C1orf103_uc001eab.2_Missense_Mutation_p.A116T|C1orf103_uc001eac.1_Missense_Mutation_p.A115T	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	receptor-interacting factor 1 isoform 1	652					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding				0		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)		TTTATGATTGCGTTATAAGCA	0.348													T	111490937	C	T	111490937	3	4	37	1	0	0	0	0	1	0	0	0	1977	768	27	1	359	1	C1orf103	1	111490937	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1189722	111490937	137759684	51	34116											
DDX20	11218	broad.mit.edu	37	chr1	112308658	112308658	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtcaccaaaagaactgggcTgtgacaggcaatccgaagag	12	10	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:112308658T>C	uc001ebs.2	+	11	1969	c.1612T>C	c.(1612-1614)TGT>CGT	p.C538R	DDX20_uc010owf.1_Missense_Mutation_p.C300R|DDX20_uc001ebt.2_Missense_Mutation_p.C146R	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	538	SMN interacting.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			lung(1)|kidney(1)	2		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAACTGGGCTGTGACAGGCA	0.418													C	112308658	T	C	112308658	3	2	37	1	0	0	0	0	1	0	0	0	4348	1580	55	3	1654	3	DDX20	1	112308658	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	817721	112308658	136941963	52	34117											
RSBN1	54665	broad.mit.edu	37	chr1	114354926	114354926	+	Frame_Shift_Del	DEL	C	C	-													acatttaaatggcccgaccgCccccccgtccgcgcatcgcg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:114354925_114354925GC>G	uc001edq.3	-	0	146	c.110_110GC>C	c.(109-111)gcgfs	p.A37fs	RSBN1_uc001edr.3_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.	37						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGCCCGACCGCCCCCCCGTC	0.677													-	114354926	C	-	114354926	7	5	37	1	0	1	0	1	0	0	0	0	13696	739	26	0	2327	0	RSBN1	1	114354926	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	2046268	114354926	134895695	53	34118											
SPAG17	200162	broad.mit.edu	37	chr1	118609480	118609480	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgtcttgggtgtggtagtAagaatcaacacacctatatt	10	6	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:118609480A>G	uc001ehk.2	-	18	2496	c.2428T>C	c.(2428-2430)TAC>CAC	p.Y810H		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	810						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTGTGGTAGTAAGAATCAACA	0.363													G	118609480	A	G	118609480	3	3	37	1	0	0	0	0	1	0	0	0	14979	362	13	3	4367	3	SPAG17	1	118609480	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	4254554	118609480	130641141	54	34119											
GJA8	2703	broad.mit.edu	37	chr1	147380281	147380281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgcgagaacgtctgctacGacgaggcctttcccatctcc	10	15	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:147380281G>A	uc001epu.1	+	2	262	c.199G>A	c.(199-201)GAC>AAC	p.D67N		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	67	Extracellular (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					CGTCTGCTACGACGAGGCCTT	0.612													A	147380281	G	A	147380281	3	1	37	1	0	0	0	0	1	0	0	0	6405	1058	37	1	201	1	GJA8	1	147380281	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	28770801	147380281	101870340	55	34120											
HIST2H2BF	440689	broad.mit.edu	37	chr1	149398890	149398890	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagcaggcgcacggccGtctggatctcgcgggacgtg	17	13	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:149398890G>A	uc010pbi.1	-	1		c.340C>T						Q5QNW6	H2B2F_HUMAN	Homo sapiens histone cluster 2, H3, pseudogene 2, mRNA (cDNA clone IMAGE:5190019).						nucleosome assembly	nucleosome|nucleus	DNA binding				0	Breast(34;0.0124)|all_hematologic(923;0.127)					GCGCACGGCCGTCTGGATCTC	0.647													A	149398890	G	A	149398890	1	1	37	0	1	0	0	0	0	0	0	0	7180	1145	40	1		1	HIST2H2BF	1	149398890	RNA	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2018609	149398890	99851731	56	34121											
POGZ	23126	broad.mit.edu	37	chr1	151378226	151378226	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgcattctctgctacatcCttaggtagggtgtgggccac	11	12	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:151378226C>A	uc001eyd.1	-	19	3591	c.3285G>T	c.(3283-3285)AAG>AAT	p.K1095N	POGZ_uc001eye.1_Missense_Mutation_p.K1042N|POGZ_uc010pdb.1_Missense_Mutation_p.K1086N|POGZ_uc001eyf.1_Missense_Mutation_p.K1051N|POGZ_uc010pdc.1_Missense_Mutation_p.K1033N|POGZ_uc009wmv.1_Missense_Mutation_p.K1000N|POGZ_uc010pdd.1_Missense_Mutation_p.K586N	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1095				TLPKDVAENAGLFIDF -> PTLLFCLFVFSSPSTL (in Ref. 4; BAB87117/BAE45744).	cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGCTACATCCTTAGGTAGGG	0.512													A	151378226	C	A	151378226	3	1	37	1	0	0	0	0	1	0	0	0	12186	680	24	5	951	5	POGZ	1	151378226	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1979336	151378226	97872395	57	34122											
TCHH	7062	broad.mit.edu	37	chr1	152080709	152080709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctgtcgcggtcgtgacGcagctgttgttcgcgctcct	12	12	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:152080709G>A	uc001ezp.2	-	2	4984	c.4984C>T	c.(4984-4986)CGT>TGT	p.R1662C	TCHH_uc009wne.1_Missense_Mutation_p.R1662C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1662	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGGTCGTGACGCAGCTGTTGT	0.597													A	152080709	G	A	152080709	3	1	37	1	0	0	0	0	1	0	0	0	15697	1087	38	1	851	1	TCHH	1	152080709	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	702483	152080709	97169912	58	34123											
FLG	2312	broad.mit.edu	37	chr1	152277576	152277576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagagtgcccgtgaccGgctctgtcttcgtgatggga	14	11	3	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:152277576G>A	uc001ezu.1	-	3	9822	c.9786C>T	c.(9784-9786)GCC>GCT	p.A3262A		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3262	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCCGTGACCGGCTCTGTCTT	0.582									Ichthyosis				A	152277576	G	A	152277576	2	1	37	1	0	0	0	0	0	0	0	1	5922	1103	39	1		1	FLG	1	152277576	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	196867	152277576	96973045	59	34124											
FLG	2312	broad.mit.edu	37	chr1	152280923	152280923	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgggacccctgtcttcctcCtctgcttggccccgggtgtc	12	16	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:152280923C>G	uc001ezu.1	-	3	6475	c.6439G>C	c.(6439-6441)GGA>CGA	p.G2147R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2147	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTTCCTCCTCTGCTTGGC	0.567									Ichthyosis				G	152280923	C	G	152280923	3	3	37	1	0	0	0	0	1	0	0	0	5922	690	24	5	5750	5	FLG	1	152280923	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3347	152280923	96969698	60	34125											
LOR	4014	broad.mit.edu	37	chr1	153233517	153233517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtggcggcggcagcggcgGtggtggctgcggcttcttcg	21	11	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:153233517G>A	uc001fbm.2	+	2	146	c.92G>A	c.(91-93)GGT>GAT	p.G31D		NM_000427	NP_000418	P23490	LORI_HUMAN	loricrin	31					keratinization|peptide cross-linking	cornified envelope|cytoplasm|insoluble fraction|nucleoplasm	protein binding, bridging|structural constituent of cytoskeleton				0	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ggcagcggcggtggtggctgc	0.184													A	153233517	G	A	153233517	3	1	37	1	0	0	0	0	1	0	0	0	8897	1261	44	4	94	4	LOR	1	153233517	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	952594	153233517	96017104	61	34126											
PGLYRP3	114771	broad.mit.edu	37	chr1	153270514	153270514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgaccacgtcactgtggCccatcagcaggtagtttgga	12	10	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:153270514C>T	uc001fbn.1	-	7	997	c.944G>A	c.(943-945)GGC>GAC	p.G315D		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3 precursor	315					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCACTGTGGCCCATCAGCAG	0.577													T	153270514	C	T	153270514	3	4	37	1	0	0	0	0	1	0	0	0	11795	739	26	2	85	2	PGLYRP3	1	153270514	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	36997	153270514	95980107	62	34127											
ILF2	3608	broad.mit.edu	37	chr1	153642708	153642708	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accacggcctctgtcaccccTagaaatgcagattttatttt	6	12	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:153642708T>C	uc001fcr.2	-	2	87	c.6_splice	c.e2-1	p.R2_splice	ILF2_uc010pdy.1_Splice_Site|ILF2_uc009wok.2_Splice_Site_p.R2_splice|ILF2_uc009wol.1_Splice_Site	NM_004515	NP_004506	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2						immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGTCACCCCTAGAAATGCAG	0.522													C	153642708	T	C	153642708	5	2	37	1	0	0	0	0	0	0	1	0	7711	1536	53	3	1220	3	ILF2	1	153642708	Splice_Site	SNP	T	TCGA-BR-6566-01A-11D-1800-08	372194	153642708	95607913	63	34128											
INTS3	65123	broad.mit.edu	37	chr1	153730153	153730154	+	Frame_Shift_Ins	INS	-	-	G													cctcattcgctacatctgtgINSgggtagtccacccttctaat							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:153730152_153730153T>TG	uc009wom.3	+	10	1283_1284	c.1062_1063T>TG	c.(1060-1065)tgtgggfs	p.C354fs	INTS3_uc001fct.3_Frame_Shift_Ins_p.C354fs|INTS3_uc001fcu.3_Frame_Shift_Ins_p.C46fs|INTS3_uc001fcv.3_Frame_Shift_Ins_p.C148fs|INTS3_uc010peb.2_Frame_Shift_Ins_p.C148fs|INTS3_uc001fcw.3_5'UTR|INTS3_uc010pec.2_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	355					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTACATCTGTGGGGTAGTCCA	0.51													G	153730154	-	G	153730153	7	5	37	1	0	1	1	0	0	0	0	0	7779	1348	47	0	1101	0	INTS3	1	153730153	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	87445	153730153	95520468	64	34129											
DENND4B	9909	broad.mit.edu	37	chr1	153907329	153907329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctgttgccGttctctcaagggctggcgga	14	12	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:153907329G>A	uc001fdd.1	-	18	3081	c.2680C>T	c.(2680-2682)CGG>TGG	p.R894W	uc001fdc.1_RNA	NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	894	Gln-rich.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			tgctgttgcCGTTCTCTCAAG	0.463													A	153907329	G	A	153907329	3	1	37	1	0	0	0	0	1	0	0	0	4434	1144	40	1	1854	1	DENND4B	1	153907329	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	177176	153907329	95343292	65	34130											
ATP8B2	57198	broad.mit.edu	37	chr1	154318321	154318321	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtataacatcgtgtacAcctccctgccagtcctggct	7	16	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:154318321A>C	uc001fex.2	+	24	2839	c.2839A>C	c.(2839-2841)ACC>CCC	p.T947P		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	933	Helical; (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATCGTGTACACCTCCCTGCC	0.507													C	154318321	A	C	154318321	3	2	37	1	0	0	0	0	1	0	0	0	1195	159	6	5	3063	5	ATP8B2	1	154318321	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	410992	154318321	94932300	66	34131											
PYGO2	90780	broad.mit.edu	37	chr1	154932071	154932071	+	Frame_Shift_Del	DEL	G	G	-													cccataggattgggagggaaGgggggtggctgtcgacggag							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:154932070_154932070AG>A	uc001fft.3	-	2	612	c.406_406CT>T	c.(406-408)ttcfs	p.F136fs		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA.	136	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTGGGAGGGAAGGGGGGTGGC	0.662													-	154932071	G	-	154932071	7	5	37	1	0	1	0	1	0	0	0	0	12864	987	35	0	819	0	PYGO2	1	154932071	Frame_Shift_Del	DEL	G	TCGA-BR-6566-01A-11D-1800-08	613750	154932071	94318550	67	34132											
RXFP4	339403	broad.mit.edu	37	chr1	155911718	155911718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcccggagagcccctgGcccaccttcagacaccttcg	10	18	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:155911718G>A	uc010pgs.1	+	1	239	c.218G>A	c.(217-219)GGC>GAC	p.G73D		NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN	relaxin 3 receptor 2	73	Cytoplasmic (Potential).					integral to membrane|plasma membrane	angiotensin type II receptor activity				0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGAGCCCCTGGCCCACCTTCA	0.612													A	155911718	G	A	155911718	3	1	37	1	0	0	0	0	1	0	0	0	13762	1203	42	2	220	2	RXFP4	1	155911718	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	979647	155911718	93338903	68	34133											
SMG5	23381	broad.mit.edu	37	chr1	156235649	156235649	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgagggttggtggtgggcTggaggagcaggttgctaaag	20	3	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:156235649T>C	uc001foc.3	-	12	1927	c.1778A>G	c.(1777-1779)CAG>CGG	p.Q593R	SMG5_uc009wrv.2_Missense_Mutation_p.Q78R	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	593					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					GGTGGTGGGCTGGAGGAGCAG	0.567													C	156235649	T	C	156235649	3	2	37	1	0	0	0	0	1	0	0	0	14796	1580	55	3	1316	3	SMG5	1	156235649	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	323931	156235649	93014972	69	34134											
SMG5	23381	broad.mit.edu	37	chr1	156235910	156235910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttcagcatcaaaggccGttcccccaccttcaagactc	6	16	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:156235910G>A	uc001foc.3	-	12	1666	c.1517C>T	c.(1516-1518)ACG>ATG	p.T506M	SMG5_uc009wrv.2_Translation_Start_Site	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	506					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					ATCAAAGGCCGTTCCCCCACC	0.552													A	156235910	G	A	156235910	3	1	37	1	0	0	0	0	1	0	0	0	14796	1145	40	1	1577	1	SMG5	1	156235910	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	261	156235910	93014711	70	34135											
APOA1BP	128240	broad.mit.edu	37	chr1	156563292	156563292	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgggaaccgttccacagcatCctgagtgtcctgaagggact	12	12	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:156563292C>T	uc001fph.2	+	5	648	c.609C>T	c.(607-609)ATC>ATT	p.I203I	APOA1BP_uc001fpg.2_Silent_p.I203I|APOA1BP_uc001fpi.2_Missense_Mutation_p.P185S|APOA1BP_uc001fpj.2_Silent_p.I120I|APOA1BP_uc001fpk.2_Silent_p.I100I|APOA1BP_uc010php.1_Silent_p.I100I	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein precursor	203	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCACAGCATCCTGAGTGTCC	0.572													T	156563292	C	T	156563292	2	4	37	1	0	0	0	0	0	0	0	1	781	845	30	4		4	APOA1BP	1	156563292	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	327382	156563292	92687329	71	34136											
NES	10763	broad.mit.edu	37	chr1	156642804	156642805	+	Frame_Shift_Ins	INS	-	-	G													gagagggtgcctgaggtgtgINSggggggatgggggtgctggc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:156642803_156642804T>TG	uc001fpq.3	-	3	1309_1310	c.1176_1177A>CA	c.(1174-1179)cccacafs	p.P392fs	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	392	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTGAGGTGTGGGGGGGATGG	0.594													G	156642805	-	G	156642804	7	5	37	1	0	1	1	0	0	0	0	0	10337	1335	47	0	3693	0	NES	1	156642804	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	79512	156642804	92607817	72	34137											
PEAR1	375033	broad.mit.edu	37	chr1	156875185	156875185	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcctgcagtgctgccaTggcttctatgagagcagggg	15	11	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:156875185T>C	uc001fqj.1	+	4	392	c.276T>C	c.(274-276)CAT>CAC	p.H92H	PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	92	EMI.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGTGCTGCCATGGCTTCTATG	0.637													C	156875185	T	C	156875185	2	2	37	1	0	0	0	0	0	0	0	1	11712	1461	51	3		3	PEAR1	1	156875185	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	232381	156875185	92375436	73	34138											
CD5L	922	broad.mit.edu	37	chr1	157804431	157804431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccagcctgtctggcacaCggtataccactggttctggt	11	13	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:157804431C>T	uc001frk.3	-	4	627	c.484G>A	c.(484-486)GTG>ATG	p.V162M		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	162	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTCTGGCACACGGTATACCAC	0.617													T	157804431	C	T	157804431	3	4	37	1	0	0	0	0	1	0	0	0	3027	536	19	1	571	1	CD5L	1	157804431	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	929246	157804431	91446190	74	34139											
CD1D	912	broad.mit.edu	37	chr1	158152844	158152844	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgctgacgagacatggTatctccgagcaaccctggat	10	12	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:158152844T>C	uc001frr.2	+	5	1283	c.784T>C	c.(784-786)TAT>CAT	p.Y262H	CD1D_uc009wss.2_Intron	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	262	Ig-like.|Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			ovary(1)	1	all_hematologic(112;0.0378)					CGAGACATGGTATCTCCGAGC	0.602													C	158152844	T	C	158152844	3	2	37	1	0	0	0	0	1	0	0	0	2977	1638	57	3	798	3	CD1D	1	158152844	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	348413	158152844	91097777	75	34140											
SPTA1	6708	broad.mit.edu	37	chr1	158632648	158632648	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaatcggcataccaaggActcttgccttgcccttatat	6	12	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:158632648A>G	uc001fst.1	-	17	2507	c.2308T>C	c.(2308-2310)TCC>CCC	p.S770P		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	770	Spectrin 8.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CATACCAAGGACTCTTGCCTT	0.458													G	158632648	A	G	158632648	3	3	37	1	0	0	0	0	1	0	0	0	15115	275	10	3	5095	3	SPTA1	1	158632648	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	479804	158632648	90617973	76	34141											
OR6K3	391114	broad.mit.edu	37	chr1	158687066	158687066	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgggattgaagaatggagcAagtacagtaaacatcagtgc	12	5	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:158687066A>G	uc010pip.1	-	1	888	c.888T>C	c.(886-888)CTT>CTC	p.L296L		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	296	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					AGAATGGAGCAAGTACAGTAA	0.408													G	158687066	A	G	158687066	2	3	37	1	0	0	0	0	0	0	0	1	11203	117	5	3		3	OR6K3	1	158687066	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	54418	158687066	90563555	77	34142											
DCAF8	50717	broad.mit.edu	37	chr1	160208501	160208501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtcacgggcacacatggCcagagtagaatcaccactgt	10	14	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:160208501C>T	uc001fvo.2	-	5	1072	c.760G>A	c.(760-762)GCC>ACC	p.A254T	DCAF8_uc001fvn.2_Missense_Mutation_p.A254T|DCAF8_uc009wth.2_Missense_Mutation_p.A254T|DCAF8_uc010pjb.1_Missense_Mutation_p.A254T|DCAF8_uc010pjc.1_Missense_Mutation_p.A408T|uc010pjd.1_5'Flank	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	254	WD 2.					CUL4 RING ubiquitin ligase complex	protein binding			skin(2)	2						GCACACATGGCCAGAGTAGAA	0.473													T	160208501	C	T	160208501	3	4	37	1	0	0	0	0	1	0	0	0	4276	739	26	2	1073	2	DCAF8	1	160208501	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1521435	160208501	89042120	78	34143											
B4GALT3	8703	broad.mit.edu	37	chr1	161143511	161143511	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccgaagtactgggggtaCgggaggctagggagagaaag	18	7	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:161143511C>T	uc001fyq.1	-	6	949	c.687G>A	c.(685-687)CCG>CCA	p.P229P	PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron|B4GALT3_uc001fyo.1_Silent_p.P9P|B4GALT3_uc001fyp.1_RNA|B4GALT3_uc001fyr.1_Silent_p.P229P|B4GALT3_uc001fys.1_Silent_p.P229P|B4GALT3_uc009wud.1_3'UTR	NM_003779	NP_003770	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	229	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity				0	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	ACTGGGGGTACGGGAGGCTAG	0.552													T	161143511	C	T	161143511	2	4	37	1	0	0	0	0	0	0	0	1	1272	523	19	1		1	B4GALT3	1	161143511	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	935010	161143511	88107110	79	34144											
FCRLB	127943	broad.mit.edu	37	chr1	161695837	161695837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcgcatcccggtggagagCgcgcccatgttctccgctaa	12	14	1	1	rs3738330		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:161695837C>T	uc001gbh.2	+	6	768	c.534C>T	c.(532-534)AGC>AGT	p.S178S	FCRLB_uc009wus.2_Silent_p.S178S|FCRLB_uc001gbj.2_Silent_p.S178S|FCRLB_uc001gbk.2_Silent_p.S178S|FCRLB_uc001gbl.2_Silent_p.S171S|FCRLB_uc001gbm.2_Silent_p.S171S|FCRLB_uc001gbi.2_Silent_p.S178S|FCRLB_uc001gbn.3_5'UTR	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	178	Ig-like C2-type 2.					endoplasmic reticulum					0	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CGGTGGAGAGCGCGCCCATGT	0.627											OREG0013944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	161695837	C	T	161695837	2	4	37	1	0	0	0	0	0	0	0	1	5801	767	27	1		1	FCRLB	1	161695837	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	552326	161695837	87554784	80	34145											
HSD17B7	51478	broad.mit.edu	37	chr1	162769680	162769680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacagctcttccaaatatGccactgaccttttgagtgtg	7	12	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:162769680G>A	uc001gci.2	+	5	690	c.595G>A	c.(595-597)GCC>ACC	p.A199T	HSD17B7_uc009wuv.2_RNA	NM_016371	NP_057455	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	199	Extracellular (Potential).				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			ovary(1)	1	all_hematologic(112;0.115)				NADH(DB00157)	TTCCAAATATGCCACTGACCT	0.483													A	162769680	G	A	162769680	3	1	37	1	0	0	0	0	1	0	0	0	7388	1319	46	2	613	2	HSD17B7	1	162769680	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1073843	162769680	86480941	81	34146											
RXRG	6258	broad.mit.edu	37	chr1	165386448	165386448	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcacaactgtataccccgTagtgctttcctggttagaag	8	11	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:165386448T>C	uc001gda.2	-	4	752	c.452A>G	c.(451-453)TAC>TGC	p.Y151C		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	151	NR C4-type.|Nuclear receptor.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GTATACCCCGTAGTGCTTTCC	0.428													C	165386448	T	C	165386448	3	2	37	1	0	0	0	0	1	0	0	0	13765	1638	57	3	967	3	RXRG	1	165386448	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	2616768	165386448	83864173	82	34147											
SLC19A2	10560	broad.mit.edu	37	chr1	169446496	169446496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgtcagtaacaatgccaCcattttgtaccttgatgcca	9	10	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:169446496C>T	uc001gge.3	-	2	908	c.704G>A	c.(703-705)GGT>GAT	p.G235D	SLC19A2_uc001ggf.3_Intron	NM_006996	NP_008927	O60779	S19A2_HUMAN	solute carrier family 19, member 2	235	Cytoplasmic (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity				0	all_hematologic(923;0.208)					AACAATGCCACCATTTTGTAC	0.488													T	169446496	C	T	169446496	3	4	37	1	0	0	0	0	1	0	0	0	14429	507	18	4	809	4	SLC19A2	1	169446496	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	4060048	169446496	79804125	83	34148											
MYOC	4653	broad.mit.edu	37	chr1	171605701	171605701	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaaacctggcggacatcCgtgccaactgtgtcgattct	9	12	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:171605701C>T	uc001ghu.2	-	3	901	c.879G>A	c.(877-879)ACG>ACA	p.T293T	MYOC_uc010pmk.1_Silent_p.T235T	NM_000261	NP_000252	Q99972	MYOC_HUMAN	myocilin precursor	293	Olfactomedin-like.		T -> K (in GLC1A).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			lung(1)	1	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGCGGACATCCGTGCCAACTG	0.537													T	171605701	C	T	171605701	2	4	37	1	0	0	0	0	0	0	0	1	10086	639	23	1		1	MYOC	1	171605701	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2159205	171605701	77644920	84	34149											
ABL2	27	broad.mit.edu	37	chr1	179077894	179077895	+	Frame_Shift_Ins	INS	-	-	T													gagcagcactttcctctgatINSttttttggaagcatgtcatt							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:179077893_179077894A>AT	uc001gmj.4	-	11	2795_2796	c.2508_2509T>AT	c.(2506-2511)aaatcafs	p.K836fs	ABL2_uc010pnf.2_Frame_Shift_Ins_p.K733fs|ABL2_uc010png.2_Frame_Shift_Ins_p.K712fs|ABL2_uc010pnh.2_Frame_Shift_Ins_p.K815fs|ABL2_uc001gmg.4_Frame_Shift_Ins_p.K718fs|ABL2_uc001gmi.4_Frame_Shift_Ins_p.K821fs|ABL2_uc010pne.2_Frame_Shift_Ins_p.K697fs	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	836	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.K800fs*34(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CTTTCCTCTGATTTTTTTGGAA	0.525			T	ETV6	AML								T	179077895	-	T	179077894	7	5	37	1	0	1	1	0	0	0	0	0	93	1490	52	0	1044	0	ABL2	1	179077894	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	7472193	179077894	70172727	85	34150											
IVNS1ABP	10625	broad.mit.edu	37	chr1	185267231	185267231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggttatagacttccaccGtattcagaaattcattgcca	6	10	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:185267231G>A	uc001grl.2	-	15	2488	c.1865C>T	c.(1864-1866)ACG>ATG	p.T622M	IVNS1ABP_uc001gri.2_Missense_Mutation_p.T282M|IVNS1ABP_uc001grj.2_Missense_Mutation_p.T282M|IVNS1ABP_uc009wyj.2_Missense_Mutation_p.T404M|IVNS1ABP_uc009wyk.2_RNA	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	622	Kelch 6.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				ovary(4)|central_nervous_system(1)	5						GACTTCCACCGTATTCAGAAA	0.408													A	185267231	G	A	185267231	3	1	37	1	0	0	0	0	1	0	0	0	7930	1145	40	1	67	1	IVNS1ABP	1	185267231	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	6189337	185267231	63983390	86	34151											
HMCN1	83872	broad.mit.edu	37	chr1	185892699	185892699	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtaccaccaaatgaagCtttctttctcaaagtaacag	5	10	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:185892699C>A	uc001grq.1	+	8	1428	c.1199C>A	c.(1198-1200)GCT>GAT	p.A400D		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	400					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CCAAATGAAGCTTTCTTTCTC	0.358													A	185892699	C	A	185892699	3	1	37	1	0	0	0	0	1	0	0	0	7220	797	28	5	1229	5	HMCN1	1	185892699	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	625468	185892699	63357922	87	34152											
PRG4	10216	broad.mit.edu	37	chr1	186275472	186275472	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaagataacaagaagaacagAactaaaaagaaacctacccc	5	9	0	5			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:186275472A>T	uc001gru.3	+	7	672	c.621A>T	c.(619-621)AGA>AGT	p.R207S	PRG4_uc001grt.3_Missense_Mutation_p.R166S|PRG4_uc009wyl.2_Missense_Mutation_p.R114S|PRG4_uc009wym.2_Missense_Mutation_p.R73S|PRG4_uc010poo.1_RNA	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	207					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						AGAAGAACAGAACTAAAAAGA	0.323													T	186275472	A	T	186275472	3	4	37	1	0	0	0	0	1	0	0	0	12481	243	9	5	643	5	PRG4	1	186275472	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	382773	186275472	62975149	88	34153											
RGS18	64407	broad.mit.edu	37	chr1	192128397	192128397	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttgtgcagaaacctgAgtttcatgaagacacccgct	8	11	3	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:192128397A>T	uc001gsg.2	+	2	343	c.167A>T	c.(166-168)GAG>GTG	p.E56V		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	regulator of G-protein signalling 18	56					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)	3						CAGAAACCTGAGTTTCATGAA	0.373													T	192128397	A	T	192128397	3	4	37	1	0	0	0	0	1	0	0	0	13300	304	11	5	173	5	RGS18	1	192128397	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	5852925	192128397	57122224	89	34154											
CFHR1	3078	broad.mit.edu	37	chr1	196762526	196762526	+	Frame_Shift_Del	DEL	A	A	-													agtgacagaaaatattatgcAaaaacaggggataccattga							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:196762525_196762525CA>C	uc001gtl.3	+	5	962	c.875_875CA>C	c.(874-876)gcafs	p.A292fs	CFH_uc021pgt.1_Intron|CFHR1_uc010poy.2_Frame_Shift_Del_p.A231fs|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	290	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						AAATATTATGCAAAAACAGGG	0.299													-	196762526	A	-	196762526	7	5	37	1	0	1	0	1	0	0	0	0	3284	117	5	0		0	CFHR1	1	196762526	Frame_Shift_Del	DEL	A	TCGA-BR-6566-01A-11D-1800-08	4634129	196762526	52488095	90	34155											
KIF21B	23046	broad.mit.edu	37	chr1	200973959	200973959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccctgtccgcttcagccGctctgagccggccaggtcca	11	18	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:200973959G>A	uc001gvs.1	-	6	1152	c.835C>T	c.(835-837)CGG>TGG	p.R279W	KIF21B_uc001gvr.1_Missense_Mutation_p.R279W|KIF21B_uc009wzl.1_Missense_Mutation_p.R279W|KIF21B_uc010ppn.1_Missense_Mutation_p.R279W|KIF21B_uc001gvt.1_Missense_Mutation_p.R62W	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	279	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						CGCTTCAGCCGCTCTGAGCCG	0.602													A	200973959	G	A	200973959	3	1	37	1	0	0	0	0	1	0	0	0	8289	1086	38	1	4155	1	KIF21B	1	200973959	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	4211433	200973959	48276662	91	34156											
CACNA1S	779	broad.mit.edu	37	chr1	201058527	201058527	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactgccattgatggtgcaCcggcgccctgagcccgtcct	11	16	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:201058527C>T	uc001gvv.2	-	6	986	c.759G>A	c.(757-759)CGG>CGA	p.R253R		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	253	Extracellular (Potential).|I.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGATGGTGCACCGGCGCCCTG	0.622													T	201058527	C	T	201058527	2	4	37	1	0	0	0	0	0	0	0	1	2547	494	18	4		4	CACNA1S	1	201058527	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	84568	201058527	48192094	92	34157											
PLEKHA6	22874	broad.mit.edu	37	chr1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-													aaggtcttcaggcgggggtaCcccccggcgcagattcaccc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:204228410_204228410AC>A	uc001hau.3	-	7	1300	c.983_983GT>T	c.(982-984)gtafs	p.V328fs	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	328	Pro-rich.							p.V328fs*172(3)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			AGGCGGGGGTACCCCCCGGCG	0.627													-	204228411	C	-	204228411	7	5	37	1	0	1	0	1	0	0	0	0	12060	507	18	0	2224	0	PLEKHA6	1	204228411	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	3169884	204228411	45022210	93	34158											
DSTYK	25778	broad.mit.edu	37	chr1	205117339	205117339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtggctcttacccctccGcacattgttccagagatggt	9	13	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:205117339G>A	uc001hbw.2	-	12	2660	c.2596C>T	c.(2596-2598)CGG>TGG	p.R866W	DSTYK_uc001hbx.2_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	866	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						TTACCCCTCCGCACATTGTTC	0.532													A	205117339	G	A	205117339	3	1	37	1	0	0	0	0	1	0	0	0	4785	1086	38	1	201	1	DSTYK	1	205117339	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	888928	205117339	44133282	94	34159											
C4BPB	725	broad.mit.edu	37	chr1	207269950	207269950	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatccaccattagttattacTgtgaagacaggtaagtgaac	9	7	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:207269950T>C	uc001hfj.2	+	5	623	c.493T>C	c.(493-495)TGT>CGT	p.C165R	C4BPB_uc001hfi.2_Missense_Mutation_p.C164R|C4BPB_uc001hfk.2_Missense_Mutation_p.C164R|C4BPB_uc001hfl.2_Missense_Mutation_p.C165R|C4BPB_uc009xcd.2_Missense_Mutation_p.C216R|C4BPB_uc001hfm.2_Missense_Mutation_p.C165R	NM_001017365	NP_001017365	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	165	Sushi 3.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				ovary(1)	1						TAGTTATTACTGTGAAGACAG	0.463													C	207269950	T	C	207269950	3	2	37	1	0	0	0	0	1	0	0	0	2250	1580	55	3	507	3	C4BPB	1	207269950	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	2152611	207269950	41980671	95	34160											
RD3	343035	broad.mit.edu	37	chr1	211652526	211652526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggtggccaggctgccgCggggccgcaggctccactgg	18	13	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:211652526C>T	uc001him.2	-	3	1604	c.440G>A	c.(439-441)CGC>CAC	p.R147H	RD3_uc001hin.2_RNA|RD3_uc009xda.2_RNA	NM_183059	NP_898882	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	147					response to stimulus|visual perception					ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		CAGGCTGCCGCGGGGCCGCAG	0.687													T	211652526	C	T	211652526	3	4	37	1	0	0	0	0	1	0	0	0	13187	768	27	1	151	1	RD3	1	211652526	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	4382576	211652526	37598095	96	34161											
SLC30A1	7779	broad.mit.edu	37	chr1	211748999	211748999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctacactagcaaattcagGctgaatggtagtagcgtgaa	11	8	1	2	rs148119372		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:211748999G>A	uc001hio.1	-	2	1400	c.1255C>T	c.(1255-1257)CCT>TCT	p.P419S		NM_021194	NP_067017	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter),	419	Cytoplasmic (Potential).				cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		GCAAATTCAGGCTGAATGGTA	0.423													A	211748999	G	A	211748999	3	1	37	1	0	0	0	0	1	0	0	0	14553	1203	42	2	272	2	SLC30A1	1	211748999	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	96473	211748999	37501622	97	34162											
HLX	3142	broad.mit.edu	37	chr1	221053526	221053526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtcccggctggcttcccGcagcggctgtctccgctctc	12	17	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:221053526G>A	uc001hmv.3	+	1	784	c.327G>A	c.(325-327)CCG>CCA	p.P109P		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	109	Pro-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)		CTGGCTTCCCGCAGCGGCTGT	0.572													A	221053526	G	A	221053526	2	1	37	1	0	0	0	0	0	0	0	1	7216	1074	38	1		1	HLX	1	221053526	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	9304527	221053526	28197095	98	34163											
DISP1	84976	broad.mit.edu	37	chr1	223177225	223177225	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaggcctggattttgcActtctgtcaaaaactgagaa	8	10	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:223177225A>G	uc001hnu.1	+	8	2633	c.2486A>G	c.(2485-2487)CAC>CGC	p.H829R		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	829					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TGGATTTTGCACTTCTGTCAA	0.433													G	223177225	A	G	223177225	3	3	37	1	0	0	0	0	1	0	0	0	4539	159	6	3	2512	3	DISP1	1	223177225	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	2123699	223177225	26073396	99	34164											
TLR5	7100	broad.mit.edu	37	chr1	223286273	223286273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggtgaggttgcagaaaCgataaaaggctattcggcca	13	8	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:223286273C>T	uc001hnv.1	-	4	547	c.101G>A	c.(100-102)CGT>CAT	p.R34H	TLR5_uc001hnw.1_Missense_Mutation_p.R34H	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	34	Extracellular (Potential).				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)		GTTGCAGAAACGATAAAAGGC	0.542													T	223286273	C	T	223286273	3	4	37	1	0	0	0	0	1	0	0	0	15951	536	19	1	2479	1	TLR5	1	223286273	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	109048	223286273	25964348	100	34165											
OBSCN	84033	broad.mit.edu	37	chr1	228475418	228475418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagtgcggttccaggagGccctgaaggacctggaggtg	18	10	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:228475418G>A	uc009xez.1	+	36	9612	c.9568G>A	c.(9568-9570)GCC>ACC	p.A3190T	OBSCN_uc001hsn.2_Missense_Mutation_p.A3190T|OBSCN_uc001hsq.1_Missense_Mutation_p.A446T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3190	Ig-like 32.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GTTCCAGGAGGCCCTGAAGGA	0.637													A	228475418	G	A	228475418	3	1	37	1	0	0	0	0	1	0	0	0	10812	1203	42	2	9706	2	OBSCN	1	228475418	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	5189145	228475418	20775203	101	34166											
OBSCN	84033	broad.mit.edu	37	chr1	228554800	228554800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagcgagacatcctggccGcgctgagccacccgctggtc	15	15	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:228554800G>A	uc009xez.1	+	86	19596	c.19552G>A	c.(19552-19554)GCG>ACG	p.A6518T	OBSCN_uc001hsr.1_Missense_Mutation_p.A1147T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6518	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CATCCTGGCCGCGCTGAGCCA	0.612													A	228554800	G	A	228554800	3	1	37	1	0	0	0	0	1	0	0	0	10812	1087	38	1	21100	1	OBSCN	1	228554800	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	79382	228554800	20695821	102	34167											
EXOC8	149371	broad.mit.edu	37	chr1	231471552	231471552	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaccaaaatgatttccaccAggctctccaaaagtaccatg	5	13	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:231471552A>G	uc001huq.2	-	1	2027	c.1940T>C	c.(1939-1941)CTG>CCG	p.L647P		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	647					exocytosis|protein transport	growth cone|nucleus	protein binding			skin(1)	1	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GATTTCCACCAGGCTCTCCAA	0.453													G	231471552	A	G	231471552	3	3	37	1	0	0	0	0	1	0	0	0	5311	188	7	3	241	3	EXOC8	1	231471552	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	2916752	231471552	17779069	103	34168											
NID1	4811	broad.mit.edu	37	chr1	236228195	236228195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgtcgtagaagcggagcGccccactcagctccagggca	12	14	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:236228195G>A	uc001hxo.2	-	1	287	c.185C>T	c.(184-186)GCG>GTG	p.A62V	NID1_uc009xgd.2_Missense_Mutation_p.A62V|uc001hxp.1_Silent_p.A112A	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	62					cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GAAGCGGAGCGCCCCACTCAG	0.597													A	236228195	G	A	236228195	3	1	37	1	0	0	0	0	1	0	0	0	10414	1087	38	1	3638	1	NID1	1	236228195	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	4756643	236228195	13022426	104	34169											
ZP4	57829	broad.mit.edu	37	chr1	238048859	238048859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtagtcaccaacaccgTagtaagagccatagttttta	9	9	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:238048859T>C	uc001hym.2	-	8	992	c.992A>G	c.(991-993)TAC>TGC	p.Y331C	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	331	ZP.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACCAACACCGTAGTAAGAGCC	0.483													C	238048859	T	C	238048859	3	2	37	1	0	0	0	0	1	0	0	0	18215	1638	57	3	650	3	ZP4	1	238048859	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	1820664	238048859	11201762	105	34170											
KIF26B	55083	broad.mit.edu	37	chr1	245704075	245704075	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttccactccagagctgcCcagaagttaaatctgtcttc	6	12	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:245704075C>A	uc001ibf.1	+	5	1613	c.1173C>A	c.(1171-1173)GCC>GCA	p.A391A	KIF26B_uc010pyq.1_Silent_p.A391A|KIF26B_uc001ibg.1_Silent_p.A9A	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	391					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCAGAGCTGCCCAGAAGTTAA	0.453													A	245704075	C	A	245704075	2	1	37	1	0	0	0	0	0	0	0	1	8295	610	22	5		5	KIF26B	1	245704075	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	7655216	245704075	3546546	106	34171											
OR2M3	127062	broad.mit.edu	37	chr1	248367276	248367276	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaccagagcattcatgAagatcttaggaaagggcaag	13	6	2	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:248367276A>G	uc010pzg.1	+	1	907	c.907A>G	c.(907-909)AAG>GAG	p.K303E		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	303	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGCATTCATGAAGATCTTAGG	0.423													G	248367276	A	G	248367276	3	3	37	1	0	0	0	0	1	0	0	0	11011	247	9	3	909	3	OR2M3	1	248367276	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	2663201	248367276	883345	107	34172											
PXDN	7837	broad.mit.edu	37	chr2	1642695	1642695	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgtcccagatgcatctgAgcgtgtgctgaaggctgagg	14	8	1	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:1642695A>C	uc002qxa.2	-	21	4193	c.4129T>G	c.(4129-4131)TCA>GCA	p.S1377A		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1377					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GATGCATCTGAGCGTGTGCTG	0.532													C	1642695	A	C	1642695	3	2	37	1	0	0	0	0	1	0	0	0	12847	304	11	5	322	5	PXDN	2	1642695	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08		1642695	241556678	108	34173											
PXDN	7837	broad.mit.edu	37	chr2	1647230	1647230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactccgccaccctgaacaCgtcgctctgcacccgggtga	10	17	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:1647230C>T	uc002qxa.2	-	19	3926	c.3862G>A	c.(3862-3864)GTG>ATG	p.V1288M		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1288					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACCCTGAACACGTCGCTCTGC	0.637													T	1647230	C	T	1647230	3	4	37	1	0	0	0	0	1	0	0	0	12847	536	19	1	597	1	PXDN	2	1647230	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	4535	1647230	241552143	109	34174											
PXDN	7837	broad.mit.edu	37	chr2	1652618	1652618	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggcccagctgctcgttGgcgcggtggtccccggccag	16	15	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:1652618G>T	uc002qxa.2	-	17	2998	c.2934C>A	c.(2932-2934)GCC>GCA	p.A978A		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	978					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCTGCTCGTTGGCGCGGTGGT	0.697													T	1652618	G	T	1652618	2	4	37	1	0	0	0	0	0	0	0	1	12847	1335	47	5		5	PXDN	2	1652618	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	5388	1652618	241546755	110	34175											
SOX11	6664	broad.mit.edu	37	chr2	5832927	5832927	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggacacggaggagggcgAattcatggcttgcagcccgg	17	10	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:5832927A>C	uc002qyj.2	+	1	129	c.74A>C	c.(73-75)GAA>GCA	p.E25A		NM_003108	NP_003099	P35716	SOX11_HUMAN	SRY-box 11	25					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		GAGGAGGGCGAATTCATGGCT	0.657													C	5832927	A	C	5832927	3	2	37	1	0	0	0	0	1	0	0	0	14942	246	9	5	76	5	SOX11	2	5832927	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	4180309	5832927	237366446	111	34176											
MBOAT2	129642	broad.mit.edu	37	chr2	9013332	9013332	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgaagctgtagcttgaaaAtgctcatcaatgttgtactc	8	9	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:9013332A>G	uc002qzg.1	-	8	922	c.789T>C	c.(787-789)CAT>CAC	p.H263H	MBOAT2_uc010yix.1_Silent_p.H263H	NM_138799	NP_620154	Q6ZWT7	MBOA2_HUMAN	O-acyltransferase (membrane bound) domain	263					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAGCTTGAAAATGCTCATCAA	0.418													G	9013332	A	G	9013332	2	3	37	1	0	0	0	0	0	0	0	1	9357	98	4	3		3	MBOAT2	2	9013332	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	3180405	9013332	234186041	112	34177											
KLF11	8462	broad.mit.edu	37	chr2	10192518	10192518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgacgaagcatgcccggCgccacatgacgaccaagaag	11	14	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:10192518C>T	uc002raf.1	+	4	1585	c.1423C>T	c.(1423-1425)CGC>TGC	p.R475C	KLF11_uc010yjc.1_Missense_Mutation_p.R458C	NM_003597	NP_003588	O14901	KLF11_HUMAN	Kruppel-like factor 11	475	C2H2-type 3.				apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GCATGCCCGGCGCCACATGAC	0.607													T	10192518	C	T	10192518	3	4	37	1	0	0	0	0	1	0	0	0	8339	768	27	1	1437	1	KLF11	2	10192518	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1179186	10192518	233006855	113	34178											
KCNF1	3754	broad.mit.edu	37	chr2	11053586	11053586	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgccctgggctacaccaTggagcagagccatccagaga	11	14	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:11053586T>C	uc002rax.2	+	1	1524	c.1034T>C	c.(1033-1035)ATG>ACG	p.M345T		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	345	Helical; Name=Segment S5; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GGCTACACCATGGAGCAGAGC	0.587													C	11053586	T	C	11053586	3	2	37	1	0	0	0	0	1	0	0	0	8026	1464	51	3	1036	3	KCNF1	2	11053586	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	861068	11053586	232145787	114	34179											
ROCK2	9475	broad.mit.edu	37	chr2	11348480	11348480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgactgtttgaggtcaCagtctaatagagaacatctt	10	7	3	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:11348480C>T	uc002rbd.1	-	19	2746	c.2297G>A	c.(2296-2298)TGT>TAT	p.C766Y		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	766	Potential.|Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTTGAGGTCACAGTCTAATAG	0.338													T	11348480	C	T	11348480	3	4	37	1	0	0	0	0	1	0	0	0	13518	478	17	4	1929	4	ROCK2	2	11348480	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	294894	11348480	231850893	115	34180											
GREB1	9687	broad.mit.edu	37	chr2	11702638	11702638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagagggagaaggaggGctggaaacaaatggcccccc	16	8	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:11702638G>A	uc002rbk.1	+	3	507	c.207G>A	c.(205-207)GGG>GGA	p.G69G	GREB1_uc002rbl.2_Silent_p.G69G|GREB1_uc002rbm.2_5'UTR|GREB1_uc002rbn.1_Silent_p.G69G	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	69						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GAGAAGGAGGGCTGGAAACAA	0.587													A	11702638	G	A	11702638	2	1	37	1	0	0	0	0	0	0	0	1	6760	1190	42	2		2	GREB1	2	11702638	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	354158	11702638	231496735	116	34181											
GREB1	9687	broad.mit.edu	37	chr2	11750942	11750942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggagacgctggagatcaCgcagaacctcctcaactccc	11	14	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:11750942C>T	uc002rbk.1	+	18	3095	c.2795C>T	c.(2794-2796)ACG>ATG	p.T932M	GREB1_uc002rbo.1_Missense_Mutation_p.T566M|GREB1_uc002rbp.1_5'Flank	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	932						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTGGAGATCACGCAGAACCTC	0.652													T	11750942	C	T	11750942	3	4	37	1	0	0	0	0	1	0	0	0	6760	536	19	1	2969	1	GREB1	2	11750942	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	48304	11750942	231448431	117	34182											
NBAS	51594	broad.mit.edu	37	chr2	15415645	15415645	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaatgtaactgcatctAccacagtgatgaggtcacct	9	9	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:15415645A>G	uc002rcc.1	-	44	5713	c.5687T>C	c.(5686-5688)GTA>GCA	p.V1896A	NBAS_uc010exl.1_Missense_Mutation_p.V968A|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1896										ovary(2)|liver(1)|skin(1)	4						AACTGCATCTACCACAGTGAT	0.413													G	15415645	A	G	15415645	3	3	37	1	0	0	0	0	1	0	0	0	10186	391	14	3	1464	3	NBAS	2	15415645	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	3664703	15415645	227783728	118	34183											
NBAS	51594	broad.mit.edu	37	chr2	15557796	15557796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaaaccaggaatattcCgctccatcccaagtcgaata	6	14	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:15557796C>T	uc002rcc.1	-	24	2644	c.2618G>A	c.(2617-2619)CGG>CAG	p.R873Q	NBAS_uc010exl.1_Intron|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	873										ovary(2)|liver(1)|skin(1)	4						AGGAATATTCCGCTCCATCCC	0.383													T	15557796	C	T	15557796	3	4	37	1	0	0	0	0	1	0	0	0	10186	652	23	1	4613	1	NBAS	2	15557796	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	142151	15557796	227641577	119	34184											
RAD51AP2	729475	broad.mit.edu	37	chr2	17699599	17699599	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcttgctactaggtggttgGgaatccgggtcctcaggagg	16	9	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:17699599G>T	uc002rcl.1	-	1	108	c.84C>A	c.(82-84)TCC>TCA	p.S28S	RAD51AP2_uc010exn.1_Silent_p.S19S	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	28										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TAGGTGGTTGGGAATCCGGGT	0.602													T	17699599	G	T	17699599	2	4	37	1	0	0	0	0	0	0	0	1	12987	1219	43	5		5	RAD51AP2	2	17699599	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2141803	17699599	225499774	120	34185											
SMC6	79677	broad.mit.edu	37	chr2	17888597	17888597	+	Frame_Shift_Del	DEL	T	T	-													cagtaaaagcttctctacaaTttttgggtggcttttgggac							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:17888597delT	uc002rco.2	-	18	2191	c.1895delA	c.(1894-1896)AATfs	p.N632fs	SMC6_uc010exo.2_Frame_Shift_Del_p.N632fs|SMC6_uc002rcn.2_Frame_Shift_Del_p.N632fs|SMC6_uc002rcp.1_Frame_Shift_Del_p.N658fs|SMC6_uc002rcq.2_Frame_Shift_Del_p.N658fs	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	632	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTCTCTACAATTTTTGGGTGG	0.338													-	17888597	T	-	17888597	7	5	37	1	0	1	0	1	0	0	0	0	14787	1493	52	0	1424	0	SMC6	2	17888597	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	188998	17888597	225310776	121	34186											
APOB	338	broad.mit.edu	37	chr2	21231016	21231016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaacagtgtcttgatctcGttgcgcaggtcagcctgact	10	11	4	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:21231016G>A	uc002red.2	-	26	8852	c.8724C>T	c.(8722-8724)AAC>AAT	p.N2908N		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2908					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTTGATCTCGTTGCGCAGGT	0.468													A	21231016	G	A	21231016	2	1	37	1	0	0	0	0	0	0	0	1	785	1136	40	1		1	APOB	2	21231016	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3342419	21231016	221968357	122	34187											
DTNB	1838	broad.mit.edu	37	chr2	25799766	25799766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggccgccggcatggccacGccaaaagcaattctggcaga	13	13	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:25799766G>A	uc002rgh.2	-	8	1067	c.817C>T	c.(817-819)CGT>TGT	p.R273C	DTNB_uc010yko.1_Missense_Mutation_p.R216C|DTNB_uc010ykp.1_Missense_Mutation_p.R69C|DTNB_uc002rgo.2_Missense_Mutation_p.R94C|DTNB_uc002rgi.2_Missense_Mutation_p.R273C|DTNB_uc002rgj.2_Missense_Mutation_p.R273C|DTNB_uc002rgk.2_Missense_Mutation_p.R273C|DTNB_uc002rgl.2_Missense_Mutation_p.R273C|DTNB_uc002rgq.2_Missense_Mutation_p.R273C|DTNB_uc002rgm.2_Missense_Mutation_p.R273C|DTNB_uc002rgn.2_Missense_Mutation_p.R69C|DTNB_uc002rgr.1_Missense_Mutation_p.R262C|DTNB_uc010ykq.1_Missense_Mutation_p.R126C	NM_021907	NP_068707	O60941	DTNB_HUMAN	dystrobrevin, beta isoform 1	273	ZZ-type.					cytoplasm	calcium ion binding|zinc ion binding			large_intestine(2)|ovary(2)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATGGCCACGCCAAAAGCAA	0.542													A	25799766	G	A	25799766	3	1	37	1	0	0	0	0	1	0	0	0	4789	1087	38	1	1118	1	DTNB	2	25799766	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	4568750	25799766	217399607	123	34188											
C2orf39	92749	broad.mit.edu	37	chr2	26677563	26677563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaatgtgcgtgacaactcCaaggactcggagtactggca	12	9	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:26677563C>T	uc002rhg.2	+	15	2042	c.1968C>T	c.(1966-1968)TCC>TCT	p.S656S		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	656											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGACAACTCCAAGGACTCGG	0.572													T	26677563	C	T	26677563	2	4	37	1	0	0	0	0	0	0	0	1	2164	581	21	4		4	C2orf39	2	26677563	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	877797	26677563	216521810	124	34189											
NRBP1	29959	broad.mit.edu	37	chr2	27662650	27662650	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggagttcattcaaaagtgCctgcagtctgagcctgctcg	11	10	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:27662650C>T	uc002rko.2	+	12	1753	c.921C>T	c.(919-921)TGC>TGT	p.C307C	NRBP1_uc002rkq.2_Silent_p.C306C|NRBP1_uc002rkp.2_Silent_p.C307C|NRBP1_uc002rkr.2_Silent_p.C98C|KRTCAP3_uc002rks.2_5'Flank|KRTCAP3_uc010ylr.1_5'Flank|KRTCAP3_uc002rkt.2_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein	307	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			ovary(2)|lung(1)	3	Acute lymphoblastic leukemia(172;0.155)					TTCAAAAGTGCCTGCAGTCTG	0.453													T	27662650	C	T	27662650	2	4	37	1	0	0	0	0	0	0	0	1	10642	747	26	2		2	NRBP1	2	27662650	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	985087	27662650	215536723	125	34190											
IFT172	26160	broad.mit.edu	37	chr2	27684328	27684328	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcgctcctcttgctgTgtgtccatcagccactggta	9	15	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:27684328T>C	uc002rku.2	-	22	2301	c.2250A>G	c.(2248-2250)ACA>ACG	p.T750T		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	750					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CCTCTTGCTGTGTGTCCATCA	0.582													C	27684328	T	C	27684328	2	2	37	1	0	0	0	0	0	0	0	1	7557	1683	59	3		3	IFT172	2	27684328	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	21678	27684328	215515045	126	34191											
RBKS	64080	broad.mit.edu	37	chr2	28004550	28004550	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttcctgcagcctggacacTgactgctgcaatgaaattgg	11	10	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:28004550T>G	uc002rlo.1	-	8	912	c.901A>C	c.(901-903)AGT>CGT	p.S301R	RBKS_uc010ezi.1_Missense_Mutation_p.S234R	NM_022128	NP_071411	Q9H477	RBSK_HUMAN	ribokinase	301					D-ribose metabolic process		ATP binding|ribokinase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)					GCCTGGACACTGACTGCTGCA	0.448													G	28004550	T	G	28004550	3	3	37	1	0	0	0	0	1	0	0	0	13108	1580	55	5	71	5	RBKS	2	28004550	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	320222	28004550	215194823	127	34192											
C2orf71	388939	broad.mit.edu	37	chr2	29294952	29294952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgacggatgttctggtggGacagcctctgacattccagt	12	10	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:29294952G>A	uc002rmt.1	-	1	2176	c.2176C>T	c.(2176-2178)CCC>TCC	p.P726S		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	726					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						GTTCTGGTGGGACAGCCTCTG	0.552													A	29294952	G	A	29294952	3	1	37	1	0	0	0	0	1	0	0	0	2191	1174	41	4	1698	4	C2orf71	2	29294952	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1290402	29294952	213904421	128	34193											
NLRC4	58484	broad.mit.edu	37	chr2	32475569	32475569	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagacgtcaataaactgctgAgtcttcgtcctgctgtgtac	10	10	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:32475569A>G	uc002roi.2	-	4	1610	c.1364T>C	c.(1363-1365)CTC>CCC	p.L455P	NLRC4_uc002roj.1_Missense_Mutation_p.L455P|NLRC4_uc010ezt.1_Intron	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	455	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TAAACTGCTGAGTCTTCGTCC	0.438													G	32475569	A	G	32475569	3	3	37	1	0	0	0	0	1	0	0	0	10469	304	11	3	1734	3	NLRC4	2	32475569	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	3180617	32475569	210723804	129	34194											
CDC42EP3	10602	broad.mit.edu	37	chr2	37873630	37873630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcgaaagtctccaagcGggggactgatcatatcagga	14	8	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:37873630G>A	uc002rqi.1	-	2	1094	c.101C>T	c.(100-102)CCG>CTG	p.P34L		NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN	Cdc42 effector protein 3	34	CRIB.				regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding				0		all_hematologic(82;0.172)				GTCTCCAAGCGGGGGACTGAT	0.458													A	37873630	G	A	37873630	3	1	37	1	0	0	0	0	1	0	0	0	3077	1116	39	1	667	1	CDC42EP3	2	37873630	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	5398061	37873630	205325743	130	34195											
SLC8A1	6546	broad.mit.edu	37	chr2	40656482	40656482	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatcttggtccctctcAtccacctccagaaccagagc	5	17	4	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:40656482A>G	uc002rrx.2	-	1	963	c.939T>C	c.(937-939)GAT>GAC	p.D313D	SLC8A1_uc002rry.2_Silent_p.D313D|SLC8A1_uc002rrz.2_Silent_p.D313D|SLC8A1_uc002rsa.2_Silent_p.D313D|SLC8A1_uc002rsd.3_Silent_p.D313D|SLC8A1_uc002rsb.1_Silent_p.D313D|SLC8A1_uc010fan.1_Silent_p.D313D|SLC8A1_uc002rsc.1_Silent_p.D313D	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	313	Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGTCCCTCTCATCCACCTCCA	0.418													G	40656482	A	G	40656482	2	3	37	1	0	0	0	0	0	0	0	1	14706	214	8	3		3	SLC8A1	2	40656482	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	2782852	40656482	202542891	131	34196											
EML4	27436	broad.mit.edu	37	chr2	42543190	42543190	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgatgcgctactcaataGgtaggcaaatttactcccac	8	11	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:42543190G>T	uc002rsi.2	+	18	2318	c.2056G>T	c.(2056-2058)GAT>TAT	p.D686Y	EML4_uc010fap.2_Missense_Mutation_p.D628Y|EML4_uc002rsj.2_Missense_Mutation_p.D375Y|EML4_uc010faq.2_Missense_Mutation_p.D31Y|EML4_uc010ynv.1_Intron	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	686	WD 7.				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(246)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						CTACTCAATAGGTAGGCAAAT	0.428			T	ALK	NSCLC								T	42543190	G	T	42543190	3	4	37	1	0	0	0	0	1	0	0	0	5099	1014	35	5	2126	5	EML4	2	42543190	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1886708	42543190	200656183	132	34197											
SRBD1	55133	broad.mit.edu	37	chr2	45807021	45807021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaagccagtacctttaacGtcaggcctaatgtacgatag	8	9	1	0	rs143177963		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:45807021G>A	uc002rus.2	-	7	1141	c.1065C>T	c.(1063-1065)GAC>GAT	p.D355D		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	355					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TACCTTTAACGTCAGGCCTAA	0.388													A	45807021	G	A	45807021	2	1	37	1	0	0	0	0	0	0	0	1	15132	1136	40	1		1	SRBD1	2	45807021	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3263831	45807021	197392352	133	34198											
SOCS5	9655	broad.mit.edu	37	chr2	46986749	46986749	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggagcttggaaagtccaCacacagattgattacataca	9	9	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:46986749C>T	uc002rvf.2	+	2	1244	c.1080C>T	c.(1078-1080)CAC>CAT	p.H360H	SOCS5_uc010yoe.1_Silent_p.H329H|SOCS5_uc002rvg.2_Silent_p.H360H	NM_014011	NP_054730	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	360					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					ovary(1)|lung(1)|central_nervous_system(1)	3		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GGAAAGTCCACACACAGATTG	0.498													T	46986749	C	T	46986749	2	4	37	1	0	0	0	0	0	0	0	1	14917	477	17	4		4	SOCS5	2	46986749	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1179728	46986749	196212624	134	34199											
KLRAQ1	129285	broad.mit.edu	37	chr2	48707064	48707064	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgattttgatttcctaggTacagagccagatggactcct	10	8	0	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:48707064T>C	uc002rwm.2	+	13	1412	c.1227T>C	c.(1225-1227)AGT>AGC	p.S409S	KLRAQ1_uc002rwj.2_Silent_p.S409S|KLRAQ1_uc002rwl.2_Silent_p.S363S|KLRAQ1_uc002rwk.2_Silent_p.S409S|KLRAQ1_uc010yok.1_Silent_p.S409S	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	409										ovary(1)	1						ATTTCCTAGGTACAGAGCCAG	0.408													C	48707064	T	C	48707064	2	2	37	1	0	0	0	0	0	0	0	1	8413	1652	57	3		3	KLRAQ1	2	48707064	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	1720315	48707064	194492309	135	34200											
SLC1A4	6509	broad.mit.edu	37	chr2	65245255	65245255	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgaagagaacaatggtgTggacaagaggatcagcaggt	14	5	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:65245255T>C	uc010yqa.1	+	6	1407	c.1085T>C	c.(1084-1086)GTG>GCG	p.V362A	SLC1A4_uc010ypy.1_Missense_Mutation_p.V142A|SLC1A4_uc010ypz.1_Missense_Mutation_p.V64A|SLC1A4_uc010fcv.2_Missense_Mutation_p.V362A|SLC1A4_uc002sdh.2_Missense_Mutation_p.V142A	NM_003038	NP_003029	P43007	SATT_HUMAN	solute carrier family 1, member 4 isoform 1	362					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(1)	1					L-Alanine(DB00160)	AACAATGGTGTGGACAAGAGG	0.532													C	65245255	T	C	65245255	3	2	37	1	0	0	0	0	1	0	0	0	14434	1696	59	3	1107	3	SLC1A4	2	65245255	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	16538191	65245255	177954118	136	34201											
SPRED2	200734	broad.mit.edu	37	chr2	65541010	65541010	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccgccgccgcgacttgccCcgggagggctgcgtcttgat	14	15	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:65541010C>A	uc002sdr.3	-	6	1417	c.882G>T	c.(880-882)CGG>CGT	p.R294R	SPRED2_uc010fcw.2_Silent_p.R291R	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	294					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3						GCGACTTGCCCCGGGAGGGCT	0.662													A	65541010	C	A	65541010	2	1	37	1	0	0	0	0	0	0	0	1	15092	610	22	5		5	SPRED2	2	65541010	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	295755	65541010	177658363	137	34202											
ASPRV1	151516	broad.mit.edu	37	chr2	70188248	70188248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatagtagcccttacccatGctgttggcaaagacgatctc	9	11	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:70188248G>A	uc002sfz.3	-	1	1150	c.573C>T	c.(571-573)AGC>AGT	p.S191S		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1 precursor	191	Extracellular (Potential).				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			ovary(1)	1						CCTTACCCATGCTGTTGGCAA	0.587													A	70188248	G	A	70188248	2	1	37	1	0	0	0	0	0	0	0	1	1058	1310	46	2		2	ASPRV1	2	70188248	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	4647238	70188248	173011125	138	34203											
PCYOX1	51449	broad.mit.edu	37	chr2	70504467	70504467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctatcaccgctggaacggGcacacagacatgattgatca	10	12	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:70504467G>A	uc002sgn.3	+	6	1527	c.1461G>A	c.(1459-1461)GGG>GGA	p.G487G	PCYOX1_uc010fdo.2_Silent_p.G410G|PCYOX1_uc010yqu.1_Silent_p.G469G	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1 precursor	487					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			central_nervous_system(1)	1						GCTGGAACGGGCACACAGACA	0.463													A	70504467	G	A	70504467	2	1	37	1	0	0	0	0	0	0	0	1	11608	1190	42	2		2	PCYOX1	2	70504467	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	316219	70504467	172694906	139	34204											
ZNF638	27332	broad.mit.edu	37	chr2	71607362	71607362	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctacgtagaacaaagaggTgaagaaaaagactttagagt	10	5	0	6			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:71607362T>C	uc002shx.2	+	9	2595	c.2276T>C	c.(2275-2277)GTG>GCG	p.V759A	ZNF638_uc010fec.2_Missense_Mutation_p.V865A|ZNF638_uc010yqw.1_Missense_Mutation_p.V338A|ZNF638_uc002shw.2_Missense_Mutation_p.V759A|ZNF638_uc002shy.2_Missense_Mutation_p.V759A|ZNF638_uc002shz.2_Missense_Mutation_p.V759A|ZNF638_uc002sia.2_Missense_Mutation_p.V759A|ZNF638_uc002sib.1_Missense_Mutation_p.V759A|ZNF638_uc010fed.2_RNA	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	759					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						AACAAAGAGGTGAAGAAAAAG	0.264													C	71607362	T	C	71607362	3	2	37	1	0	0	0	0	1	0	0	0	18052	1696	59	3	2306	3	ZNF638	2	71607362	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	1102895	71607362	171592011	140	34205											
RTKN	6242	broad.mit.edu	37	chr2	74653450	74653450	+	Frame_Shift_Del	DEL	G	G	-													tggggatcgctgaggtgggaGgggggcaaccgagcgagccc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:74653450delG	uc002sle.2	-	12	1729	c.1612delC	c.(1612-1614)CTCfs	p.L538fs	RTKN_uc002slc.2_Frame_Shift_Del_p.L525fs|RTKN_uc002sld.2_Frame_Shift_Del_p.L488fs	NM_001015055	NP_001015055	Q9BST9	RTKN_HUMAN	rhotekin isoform a	538	Pro-rich.				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			skin(1)	1						TGAGGTGGGAGGGGGGCAACC	0.652													-	74653450	G	-	74653450	7	5	37	1	0	1	0	1	0	0	0	0	13722	1000	35	0	83	0	RTKN	2	74653450	Frame_Shift_Del	DEL	G	TCGA-BR-6566-01A-11D-1800-08	3046088	74653450	168545923	141	34206											
POLR1A	25885	broad.mit.edu	37	chr2	86272846	86272846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgccagacgccatcagcGggggtctccgaccttccagt	11	15	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:86272846G>A	uc002sqs.2	-	20	3159	c.2780C>T	c.(2779-2781)CCG>CTG	p.P927L	POLR1A_uc010ytb.1_Missense_Mutation_p.P293L|POLR1A_uc002sqt.1_5'Flank	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	927					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						CGCCATCAGCGGGGGTCTCCG	0.552													A	86272846	G	A	86272846	3	1	37	1	0	0	0	0	1	0	0	0	12209	1116	39	1	2442	1	POLR1A	2	86272846	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	11619396	86272846	156926527	142	34207											
ASTL	431705	broad.mit.edu	37	chr2	96789603	96789603	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggcttaatcttcggacaTccccttgaaatgatttctag	7	10	2	2	rs11292169		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:96789603T>C	uc010yui.1	-	9	1282	c.1282A>G	c.(1282-1284)ATG>GTG	p.M428V		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	428					proteolysis		metalloendopeptidase activity|zinc ion binding				0						TCTTCGGACATCCCCTTGAAA	0.582													C	96789603	T	C	96789603	3	2	37	1	0	0	0	0	1	0	0	0	1063	1435	50	3	16	3	ASTL	2	96789603	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	10516757	96789603	146409770	143	34208											
TMEM127	55654	broad.mit.edu	37	chr2	96919847	96919847	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccaatgacggtggcacacTgcagaactaggagacagagg	14	9	0	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:96919847T>C	uc002svq.2	-	4	673	c.416A>G	c.(415-417)CAG>CGG	p.Q139R	TMEM127_uc002svr.2_Missense_Mutation_p.Q139R	NM_017849	NP_060319	O75204	TM127_HUMAN	transmembrane protein 127	139	Helical; (Potential).				negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane					0						GGTGGCACACTGCAGAACTAG	0.522									Pheochromocytoma_(Adrenal)_Familial				C	96919847	T	C	96919847	3	2	37	1	0	0	0	0	1	0	0	0	16037	1580	55	3	304	3	TMEM127	2	96919847	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	130244	96919847	146279526	144	34209											
SNRNP200	23020	broad.mit.edu	37	chr2	96963431	96963431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtccattcgagactgacGcactcgctctctccgggacc	10	15	1	2	rs142216052		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:96963431G>A	uc002svu.2	-	10	1233	c.1147C>T	c.(1147-1149)CGT>TGT	p.R383C		NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	383						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						CGAGACTGACGCACTCGCTCT	0.483													A	96963431	G	A	96963431	3	1	37	1	0	0	0	0	1	0	0	0	14852	1087	38	1	5407	1	SNRNP200	2	96963431	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	43584	96963431	146235942	145	34210											
ARID5A	10865	broad.mit.edu	37	chr2	97217888	97217888	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcccacttcctggccacCgcaggcccctcgcccatggc	10	22	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:97217888C>T	uc002swe.2	+	7	1723	c.1623C>T	c.(1621-1623)ACC>ACT	p.T541T	ARID5A_uc010yuq.1_Silent_p.T489T|ARID5A_uc002swf.2_Silent_p.T377T|ARID5A_uc002swg.2_Silent_p.T489T	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A	541					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding				0						TCCTGGCCACCGCAGGCCCCT	0.697													T	97217888	C	T	97217888	2	4	37	1	0	0	0	0	0	0	0	1	921	639	23	1		1	ARID5A	2	97217888	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	254457	97217888	145981485	146	34211											
C2orf55	343990	broad.mit.edu	37	chr2	99448879	99448879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggctcctgggcagcccgtCgtcctcagagctcatgccgg	15	15	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:99448879C>T	uc002szf.1	-	5	766	c.472G>A	c.(472-474)GAC>AAC	p.D158N		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	158											0						GGCAGCCCGTCGTCCTCAGAG	0.587													T	99448879	C	T	99448879	3	4	37	1	0	0	0	0	1	0	0	0	2176	884	31	1	2440	1	C2orf55	2	99448879	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2230991	99448879	143750494	147	34212											
LONRF2	164832	broad.mit.edu	37	chr2	100916256	100916256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaactgtctctttaagccaGcgctgggtgctgttggaagg	14	8	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:100916256G>A	uc002tal.3	-	5	1830	c.1190C>T	c.(1189-1191)GCT>GTT	p.A397V	LONRF2_uc010yvs.1_RNA	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger	397					proteolysis		ATP-dependent peptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2						CTTTAAGCCAGCGCTGGGTGC	0.448													A	100916256	G	A	100916256	3	1	37	1	0	0	0	0	1	0	0	0	8895	971	34	2	1106	2	LONRF2	2	100916256	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1467377	100916256	142283117	148	34213											
IL1R2	7850	broad.mit.edu	37	chr2	102638649	102638649	+	Splice_Site	DEL	A	A	-													tttccttacatctttctcagAaaaaaaagaagagaccattc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:102638648_102638648GA>G	uc002tbm.3	+	6	918	c.689_splice	c.e6-1	p.K230_splice	IL1R2_uc002tbn.3_Splice_Site_p.K230_splice|IL1R2_uc002tbo.1_Splice_Site_p.K230_splice	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	230					immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	ATCTTTCTCAGAAAAAAAAGA	0.438													-	102638649	A	-	102638649	8	5	37	1	0	1	0	1	0	0	1	0	7659	260	9	0	707	0	IL1R2	2	102638649	Splice_Site	DEL	A	TCGA-BR-6566-01A-11D-1800-08	1722393	102638649	140560724	149	34214											
FBLN7	129804	broad.mit.edu	37	chr2	112940466	112940466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaccgttgcacctgccccGgtggataccgaactctggct	10	15	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:112940466G>A	uc002tho.1	+	6	1040	c.769G>A	c.(769-771)GGT>AGT	p.G257S	FBLN7_uc002thn.2_Missense_Mutation_p.G257S|FBLN7_uc010fki.1_Missense_Mutation_p.G211S|FBLN7_uc010fkj.1_Intron	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	fibulin 7 isoform 1	257	EGF-like 2; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			ovary(1)|central_nervous_system(1)	2						CACCTGCCCCGGTGGATACCG	0.647													A	112940466	G	A	112940466	3	1	37	1	0	0	0	0	1	0	0	0	5701	1116	39	1	791	1	FBLN7	2	112940466	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	10301817	112940466	130258907	150	34215											
CCDC93	54520	broad.mit.edu	37	chr2	118766148	118766148	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagggtgataagcctttaatTcttgccctgaaatacccagc	8	10	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:118766148T>C	uc002tlj.2	-	2	255	c.129A>G	c.(127-129)AGA>AGG	p.R43R	CCDC93_uc010fld.1_Silent_p.R43R	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	43										large_intestine(1)|ovary(1)	2						AGCCTTTAATTCTTGCCCTGA	0.378													C	118766148	T	C	118766148	2	2	37	1	0	0	0	0	0	0	0	1	2872	1780	62	3		3	CCDC93	2	118766148	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	5825682	118766148	124433225	151	34216											
NCKAP5	344148	broad.mit.edu	37	chr2	133540357	133540357	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcccggaggaggggtgccCcgagggcctcccaacactgg	15	15	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:133540357C>A	uc002ttp.2	-	14	4401	c.4027G>T	c.(4027-4029)GGG>TGG	p.G1343W	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1343							protein binding				0						GAGGGGTGCCCCGAGGGCCTC	0.602													A	133540357	C	A	133540357	3	1	37	1	0	0	0	0	1	0	0	0	10223	623	22	5	1730	5	NCKAP5	2	133540357	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	14774209	133540357	109659016	152	34217											
NCKAP5	344148	broad.mit.edu	37	chr2	133887625	133887625	+	Frame_Shift_Del	DEL	T	T	-													gggtcacctcctgcaaccgcTtctcgctttgaagacgtaag							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:133887625delT	uc002ttp.2	-	6	640	c.266delA	c.(265-267)AAGfs	p.K89fs	NCKAP5_uc002ttq.2_Frame_Shift_Del_p.K89fs|NCKAP5_uc002ttt.1_Frame_Shift_Del_p.K89fs|NCKAP5_uc002tts.1_Frame_Shift_Del_p.K64fs	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	89	Potential.						protein binding				0						CTGCAACCGCTTCTCGCTTTG	0.458													-	133887625	T	-	133887625	7	5	37	1	0	1	0	1	0	0	0	0	10223	1609	56	0	5523	0	NCKAP5	2	133887625	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	347268	133887625	109311748	153	34218											
YSK4	80122	broad.mit.edu	37	chr2	135744541	135744541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttagtcttggctctgtcGgttgaacagagagaggaaca	12	6	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:135744541G>A	uc002tue.1	-	7	1932	c.1901C>T	c.(1900-1902)CCG>CTG	p.P634L	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.P521L|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.P362L|YSK4_uc002tui.3_Missense_Mutation_p.P651L	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	634							ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)		TGGCTCTGTCGGTTGAACAGA	0.383													A	135744541	G	A	135744541	3	1	37	1	0	0	0	0	1	0	0	0	17492	1116	39	1	2101	1	YSK4	2	135744541	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1856916	135744541	107454832	154	34219											
ZRANB3	84083	broad.mit.edu	37	chr2	136029371	136029371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgcttaggatagccacGcgagtgtcaggatccttttg	12	8	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:136029371G>A	uc002tum.2	-	10	1290	c.1173C>T	c.(1171-1173)CGC>CGT	p.R391R	ZRANB3_uc002tuk.2_5'UTR|ZRANB3_uc002tul.2_Silent_p.R391R|ZRANB3_uc002tun.1_Silent_p.R331R	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	391	Helicase C-terminal.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)		GGATAGCCACGCGAGTGTCAG	0.378													A	136029371	G	A	136029371	2	1	37	1	0	0	0	0	0	0	0	1	18221	1074	38	1		1	ZRANB3	2	136029371	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	284830	136029371	107170002	155	34220											
LRP1B	53353	broad.mit.edu	37	chr2	141202148	141202148	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaccacagttgagttcatcAgaattgtctccacaatcatt	5	11	4	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:141202148A>G	uc002tvj.1	-	64	11130	c.10158T>C	c.(10156-10158)TCT>TCC	p.S3386S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3386	Extracellular (Potential).|LDL-receptor class A 22.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGAGTTCATCAGAATTGTCTC	0.383										TSP Lung(27;0.18)			G	141202148	A	G	141202148	2	3	37	1	0	0	0	0	0	0	0	1	8955	175	7	3		3	LRP1B	2	141202148	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	5172777	141202148	101997225	156	34221											
LRP1B	53353	broad.mit.edu	37	chr2	141625740	141625740	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggccaagccccagttttcAtgtctttatagatggttttt	8	8	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:141625740A>G	uc002tvj.1	-	26	5234	c.4262T>C	c.(4261-4263)ATG>ACG	p.M1421T	LRP1B_uc010fnl.1_Missense_Mutation_p.M603T	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1421	Extracellular (Potential).|LDL-receptor class B 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCCAGTTTTCATGTCTTTATA	0.403										TSP Lung(27;0.18)			G	141625740	A	G	141625740	3	3	37	1	0	0	0	0	1	0	0	0	8955	217	8	3	9801	3	LRP1B	2	141625740	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	423592	141625740	101573633	157	34222											
ZEB2	9839	broad.mit.edu	37	chr2	145153986	145153986	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtcactcatacctgtgtgTtcgtatttatgtcgcagaag	9	8	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:145153986T>C	uc002tvu.2	-	9	3540	c.3060A>G	c.(3058-3060)GAA>GAG	p.E1020E	ZEB2_uc002tvv.2_Silent_p.E1014E|ZEB2_uc010zbm.1_Silent_p.E991E|ZEB2_uc010fnp.2_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	1020	C2H2-type 5.					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		TACCTGTGTGTTCGTATTTAT	0.408													C	145153986	T	C	145153986	2	2	37	1	0	0	0	0	0	0	0	1	17621	1722	60	3		3	ZEB2	2	145153986	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	3528246	145153986	98045387	158	34223											
NR4A2	4929	broad.mit.edu	37	chr2	157184520	157184520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttttaaactgtctgtgCgaaccactgcaaaggaagag	11	9	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:157184520C>T	uc002tyz.3	-	5	1423	c.1001G>A	c.(1000-1002)CGC>CAC	p.R334H	NR4A2_uc002tyx.3_Missense_Mutation_p.R271H|NR4A2_uc010zcf.1_Missense_Mutation_p.R334H|NR4A2_uc010zcg.1_5'UTR	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	334	Nuclear receptor.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						ACTGTCTGTGCGAACCACTGC	0.657													T	157184520	C	T	157184520	3	4	37	1	0	0	0	0	1	0	0	0	10633	768	27	1	811	1	NR4A2	2	157184520	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	12030534	157184520	86014853	159	34224											
BAZ2B	29994	broad.mit.edu	37	chr2	160289669	160289669	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggagcttcttgaatgacaCtttgaataactccatttggt	9	7	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:160289669C>A	uc002uao.2	-	9	1851	c.1499G>T	c.(1498-1500)AGT>ATT	p.S500I	BAZ2B_uc002uap.2_Missense_Mutation_p.S498I|BAZ2B_uc002uas.1_Missense_Mutation_p.S437I|BAZ2B_uc002uaq.1_Missense_Mutation_p.S428I|BAZ2B_uc002uar.1_Missense_Mutation_p.S73I	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						TTGAATGACACTTTGAATAAC	0.383													A	160289669	C	A	160289669	3	1	37	1	0	0	0	0	1	0	0	0	1332	565	20	5	5123	5	BAZ2B	2	160289669	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3105149	160289669	82909704	160	34225											
FIGN	55137	broad.mit.edu	37	chr2	164467050	164467050	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgcctgtgctcgtccCcatgctcactcattactggc	10	15	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:164467050C>A	uc002uck.1	-	3	1603	c.1292G>T	c.(1291-1293)GGG>GTG	p.G431V		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	431						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						GTGCTCGTCCCCATGCTCACT	0.517													A	164467050	C	A	164467050	3	1	37	1	0	0	0	0	1	0	0	0	5891	623	22	5	991	5	FIGN	2	164467050	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	4177381	164467050	78732323	161	34226											
SCN7A	6332	broad.mit.edu	37	chr2	167313548	167313548	+	Frame_Shift_Del	DEL	A	A	-													aacaaaaaacttaccaccacAaaaaatatcatgtagacctt							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:167313547_167313547CA>C	uc002udu.2	-	9	1253	c.1123_1123TG>G	c.(1123-1125)gtgfs	p.V375fs	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	375					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CTTACCACCACAAAAAATATC	0.353													-	167313548	A	-	167313548	7	5	37	1	0	1	0	1	0	0	0	0	13923	127	5	0	3990	0	SCN7A	2	167313548	Frame_Shift_Del	DEL	A	TCGA-BR-6566-01A-11D-1800-08	2846498	167313548	75885825	162	34227											
B3GALT1	8708	broad.mit.edu	37	chr2	168726164	168726164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagaaggtattttactggCtatgtcattaatggaggacc	11	6	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:168726164C>T	uc002udz.1	+	2	966	c.615C>T	c.(613-615)GGC>GGT	p.G205G		NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta	205	Lumenal (Potential).				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(2)|pancreas(1)|skin(1)	4						ATTTTACTGGCTATGTCATTA	0.428													T	168726164	C	T	168726164	2	4	37	1	0	0	0	0	0	0	0	1	1247	784	28	2		2	B3GALT1	2	168726164	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1412616	168726164	74473209	163	34228											
LRP2	4036	broad.mit.edu	37	chr2	170104000	170104000	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actcgaataatggcacccagTctccagtcagtaaaaaataa	6	10	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:170104000T>A	uc002ues.2	-	20	3009	c.2796A>T	c.(2794-2796)AGA>AGT	p.R932S	LRP2_uc010zdf.1_Missense_Mutation_p.R795S	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	932	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGGCACCCAGTCTCCAGTCAG	0.363													A	170104000	T	A	170104000	3	1	37	1	0	0	0	0	1	0	0	0	8956	1664	58	5	11411	5	LRP2	2	170104000	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	1377836	170104000	73095373	164	34229											
GPR155	151556	broad.mit.edu	37	chr2	175346317	175346317	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactatcaggactggcaaccAataaggttaatacacataca	7	9	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:175346317A>G	uc002uit.2	-	3	759	c.368T>C	c.(367-369)TTG>TCG	p.L123S	GPR155_uc002uiu.2_Missense_Mutation_p.L123S|GPR155_uc002uiv.2_Missense_Mutation_p.L123S|GPR155_uc010fqs.2_Missense_Mutation_p.L123S	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155 isoform 9	123	Helical; (Potential).				intracellular signal transduction|transmembrane transport	integral to membrane				ovary(1)	1						ACTGGCAACCAATAAGGTTAA	0.353													G	175346317	A	G	175346317	3	3	37	1	0	0	0	0	1	0	0	0	6660	131	5	3	2304	3	GPR155	2	175346317	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	5242317	175346317	67853056	165	34230											
OSBPL6	114880	broad.mit.edu	37	chr2	179247919	179247919	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagctaaacgagccgctcaAcaccctgcagcacctctgtg	10	15	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:179247919A>G	uc002ulx.2	+	17	2168	c.1790A>G	c.(1789-1791)AAC>AGC	p.N597S	OSBPL6_uc002uly.2_Missense_Mutation_p.N622S|OSBPL6_uc010zfe.1_Missense_Mutation_p.N566S|OSBPL6_uc002ulz.2_Missense_Mutation_p.N561S|OSBPL6_uc002uma.2_Missense_Mutation_p.N601S	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	597					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GAGCCGCTCAACACCCTGCAG	0.458													G	179247919	A	G	179247919	3	3	37	1	0	0	0	0	1	0	0	0	11281	43	2	3	1970	3	OSBPL6	2	179247919	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	3901602	179247919	63951454	166	34231											
TTN	7273	broad.mit.edu	37	chr2	179410360	179410360	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcaggttttgtccactgaAtgatgatatgctctttgcca	8	8	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:179410360A>G	uc010zfg.1	-	293	87997	c.87773T>C	c.(87772-87774)ATT>ACT	p.I29258T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I22953T|TTN_uc010zfi.1_Missense_Mutation_p.I22886T|TTN_uc010zfj.1_Missense_Mutation_p.I22761T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30185							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTCCACTGAATGATGATATG	0.428													G	179410360	A	G	179410360	3	3	37	1	0	0	0	0	1	0	0	0	16732	101	4	3	12578	3	TTN	2	179410360	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	162441	179410360	63789013	167	34232											
TTN	7273	broad.mit.edu	37	chr2	179413378	179413378	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacagtaagggtatatttcCctgcatcatttctgttgcag	8	10	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:179413378C>A	uc010zfg.1	-	288	85495	c.85271G>T	c.(85270-85272)GGG>GTG	p.G28424V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G22119V|TTN_uc010zfi.1_Missense_Mutation_p.G22052V|TTN_uc010zfj.1_Missense_Mutation_p.G21927V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29351							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTATATTTCCCTGCATCATT	0.468													A	179413378	C	A	179413378	3	1	37	1	0	0	0	0	1	0	0	0	16732	623	22	5	15100	5	TTN	2	179413378	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3018	179413378	63785995	168	34233											
TTN	7273	broad.mit.edu	37	chr2	179427507	179427507	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggtggttcccaggacaaCgtcactgagtctttcttcac	10	11	4	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:179427507C>T	uc010zfg.1	-	275	75872	c.75648G>A	c.(75646-75648)ACG>ACA	p.T25216T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T18911T|TTN_uc010zfi.1_Silent_p.T18844T|TTN_uc010zfj.1_Silent_p.T18719T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26143							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCAGGACAACGTCACTGAGT	0.413													T	179427507	C	T	179427507	2	4	37	1	0	0	0	0	0	0	0	1	16732	523	19	1		1	TTN	2	179427507	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	14129	179427507	63771866	169	34234											
TTN	7273	broad.mit.edu	37	chr2	179430401	179430401	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttcagttcctttgggctGcatttcaacaacgtacccca	6	12	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:179430401G>A	uc010zfg.1	-	275	72978	c.72754C>T	c.(72754-72756)CAG>TAG	p.Q24252*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.Q17947*|TTN_uc010zfi.1_Nonsense_Mutation_p.Q17880*|TTN_uc010zfj.1_Nonsense_Mutation_p.Q17755*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25179							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTGGGCTGCATTTCAACA	0.463													A	179430401	G	A	179430401	4	1	37	1	0	0	0	0	0	1	0	0	16732	1328	46	2	27669	2	TTN	2	179430401	Nonsense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2894	179430401	63768972	170	34235											
TTN	7273	broad.mit.edu	37	chr2	179544699	179544699	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgtactcttcttcttcttCtacaagatattcttctacat	2	10	7	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:179544699C>T	uc010zfg.1	-	137	29994	c.29770G>A	c.(29770-29772)GAA>AAA	p.E9924K	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6585K|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10851							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCTTCTTCTACAAGATAT	0.403													T	179544699	C	T	179544699	3	4	37	1	0	0	0	0	1	0	0	0	16732	922	32	4	70919	4	TTN	2	179544699	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	114298	179544699	63654674	171	34236											
TTN	7273	broad.mit.edu	37	chr2	179659863	179659863	+	Frame_Shift_Del	DEL	G	G	-													cgtagccctcttgcttccaaGggggaggcacttcaggacct							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:179659862_179659862AG>A	uc021vsy.1	-	6	1257	c.1032_1032CT>T	c.(1030-1032)cctfs	p.P344fs	TTN_uc021vsz.1_Frame_Shift_Del_p.P344fs|TTN_uc021vta.1_Frame_Shift_Del_p.P344fs|TTN_uc021vtb.1_Frame_Shift_Del_p.P344fs|TTN_uc002unb.2_Frame_Shift_Del_p.P344fs|TTN_uc010frg.1_Frame_Shift_Del_p.P18fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	344							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGCTTCCAAGGGGGAGGCA	0.547													-	179659863	G	-	179659863	7	5	37	1	0	1	0	1	0	0	0	0	16732	1000	35	0	110381	0	TTN	2	179659863	Frame_Shift_Del	DEL	G	TCGA-BR-6566-01A-11D-1800-08	115164	179659863	63539510	172	34237											
CWC22	57703	broad.mit.edu	37	chr2	180830644	180830644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttcctcttcttcttcctCgtcctcttcactactcccag	2	19	6	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:180830644C>T	uc010frh.1	-	12	1576	c.1276G>A	c.(1276-1278)GAG>AAG	p.E426K	CWC22_uc002unp.2_Missense_Mutation_p.E426K	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog	426	Poly-Glu.					catalytic step 2 spliceosome	protein binding|RNA binding				0						tcttcttcctcgtcctcttcA	0.229													T	180830644	C	T	180830644	3	4	37	1	0	0	0	0	1	0	0	0	4068	893	31	1	1486	1	CWC22	2	180830644	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1170781	180830644	62368729	173	34238											
PPP1R1C	151242	broad.mit.edu	37	chr2	182928520	182928520	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaccacccaccataaaaggTactgttcaggtactgtttcg	7	12	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:182928520T>C	uc002uoo.2	+	4	528	c.241_splice	c.e4+2	p.G81_splice	PPP1R1C_uc002uon.2_Splice_Site|PPP1R1C_uc002uop.1_Splice_Site_p.G81_splice|PPP1R1C_uc010frm.1_Splice_Site_p.G88_splice|PPP1R1C_uc010frn.1_Splice_Site	NM_001080545	NP_001074014	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor)						signal transduction	cytoplasm	protein phosphatase inhibitor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			CCATAAAAGGTACTGTTCAGG	0.433													C	182928520	T	C	182928520	5	2	37	1	0	0	0	0	0	0	1	0	12369	1652	57	3	257	3	PPP1R1C	2	182928520	Splice_Site	SNP	T	TCGA-BR-6566-01A-11D-1800-08	2097876	182928520	60270853	174	34239											
PDE1A	5136	broad.mit.edu	37	chr2	183088619	183088619	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgaaagttgtttgttgTccctgtatgctcataatcat	8	6	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:183088619T>C	uc002uos.2	-	8	880	c.796A>G	c.(796-798)ACA>GCA	p.T266A	PDE1A_uc010zfp.1_Missense_Mutation_p.T162A|PDE1A_uc002uoq.1_Missense_Mutation_p.T266A|PDE1A_uc010zfq.1_Missense_Mutation_p.T266A|PDE1A_uc002uor.2_Missense_Mutation_p.T250A|PDE1A_uc002uou.2_Missense_Mutation_p.T232A	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 2	266	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTGTTTGTTGTCCCTGTATGC	0.328													C	183088619	T	C	183088619	3	2	37	1	0	0	0	0	1	0	0	0	11633	1667	58	3	921	3	PDE1A	2	183088619	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	160099	183088619	60110754	175	34240											
MFSD6	54842	broad.mit.edu	37	chr2	191301681	191301681	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcttctgtcacaatcgTagacacggtcacactccagt	7	14	4	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:191301681T>C	uc002urz.2	+	3	1250	c.926T>C	c.(925-927)GTA>GCA	p.V309A		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	309					transmembrane transport	integral to membrane				ovary(2)	2						GTCACAATCGTAGACACGGTC	0.478													C	191301681	T	C	191301681	3	2	37	1	0	0	0	0	1	0	0	0	9535	1638	57	3	928	3	MFSD6	2	191301681	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	8213062	191301681	51897692	176	34241											
PGAP1	80055	broad.mit.edu	37	chr2	197729777	197729777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attagatacgacataagcagGaagagctccaccatgaaatc	8	9	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:197729777G>A	uc002utw.2	-	20	1909	c.1795C>T	c.(1795-1797)CCT>TCT	p.P599S	PGAP1_uc002utx.2_Missense_Mutation_p.P425S|PGAP1_uc002uty.1_Intron	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	599	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			ovary(3)|central_nervous_system(1)	4						ACATAAGCAGGAAGAGCTCCA	0.318													A	197729777	G	A	197729777	3	1	37	1	0	0	0	0	1	0	0	0	11777	1174	41	4	1005	4	PGAP1	2	197729777	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	6428096	197729777	45469596	177	34242											
AOX1	316	broad.mit.edu	37	chr2	201478593	201478593	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgaagtctcccttttgggCtcggcgccaggtgggaaagt	14	9	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:201478593C>T	uc002uvx.2	+	15	1616	c.1515C>T	c.(1513-1515)GGC>GGT	p.G505G	AOX1_uc010zhf.1_Silent_p.G61G|AOX1_uc010fsu.2_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	505					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCCTTTTGGGCTCGGCGCCAG	0.478													T	201478593	C	T	201478593	2	4	37	1	0	0	0	0	0	0	0	1	729	784	28	2		2	AOX1	2	201478593	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3748816	201478593	41720780	178	34243											
MPP4	58538	broad.mit.edu	37	chr2	202546262	202546262	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagagactggaaccaccTtgaacatgattgtgcctcga	11	10	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:202546262T>G	uc002uyk.3	-	9	897	c.689A>C	c.(688-690)AAG>ACG	p.K230T	MPP4_uc010ftj.2_Missense_Mutation_p.K230T|MPP4_uc010zhq.1_Missense_Mutation_p.K230T|MPP4_uc010zhr.1_Missense_Mutation_p.K230T|MPP4_uc010zhs.1_Missense_Mutation_p.K186T|MPP4_uc002uyj.3_Missense_Mutation_p.K186T|MPP4_uc010zht.1_Missense_Mutation_p.K203T|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.K230T|MPP4_uc002uym.1_Missense_Mutation_p.K199T|MPP4_uc002uyn.2_Missense_Mutation_p.K186T	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	230	PDZ.					cytoplasm	protein binding				0						TGGAACCACCTTGAACATGAT	0.483													G	202546262	T	G	202546262	3	3	37	1	0	0	0	0	1	0	0	0	9736	1609	56	5	1280	5	MPP4	2	202546262	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	1067669	202546262	40653111	179	34244											
FZD7	8324	broad.mit.edu	37	chr2	202900082	202900082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccccgtgcgaaccgggcCgtgccaacggcctgatgtac	14	16	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:202900082C>T	uc002uyw.1	+	1	773	c.712C>T	c.(712-714)CGT>TGT	p.R238C		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	238	Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(2)|ovary(1)|breast(1)	4						CGAACCGGGCCGTGCCAACGG	0.672											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	202900082	C	T	202900082	3	4	37	1	0	0	0	0	1	0	0	0	6135	652	23	1	714	1	FZD7	2	202900082	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	353820	202900082	40299291	180	34245											
NDUFS1	4719	broad.mit.edu	37	chr2	206991509	206991509	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaacaagattaggagagacTtcttccaatctgttccttac	7	10	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:206991509T>G	uc002vbe.2	-	17	2071	c.1944A>C	c.(1942-1944)GAA>GAC	p.E648D	NDUFS1_uc010ziq.1_Missense_Mutation_p.E662D|NDUFS1_uc010zir.1_Missense_Mutation_p.E612D|NDUFS1_uc010zis.1_Missense_Mutation_p.E591D|NDUFS1_uc010zit.1_Missense_Mutation_p.E537D|NDUFS1_uc010ziu.1_Missense_Mutation_p.E532D	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	648					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	TAGGAGAGACTTCTTCCAATC	0.398													G	206991509	T	G	206991509	3	3	37	1	0	0	0	0	1	0	0	0	10291	1606	56	5	251	5	NDUFS1	2	206991509	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	4091427	206991509	36207864	181	34246											
CCNYL1	151195	broad.mit.edu	37	chr2	208618400	208618400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacttcattggtattcagcGctctaaagccatcctctctt	5	12	4	0	rs34427171		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:208618400G>A	uc002vci.2	+	8	1262	c.905G>A	c.(904-906)CGC>CAC	p.R302H	CCNYL1_uc002vch.2_Missense_Mutation_p.R283H	NM_001142300	NP_001135772	Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1 isoform 1	353					regulation of cyclin-dependent protein kinase activity		protein kinase binding				0				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		GGTATTCAGCGCTCTAAAGCC	0.418													A	208618400	G	A	208618400	3	1	37	1	0	0	0	0	1	0	0	0	2937	1087	38	1	1096	1	CCNYL1	2	208618400	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1626891	208618400	34580973	182	34247											
ATIC	471	broad.mit.edu	37	chr2	216214270	216214270	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccccagagtggtgtggcGtacattgcggctccctccgg	13	14	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:216214270G>A	uc002vex.3	+	16	1845	c.1671G>A	c.(1669-1671)GCG>GCA	p.A557A	ATIC_uc010zjo.1_Silent_p.A498A|ATIC_uc002vey.3_Silent_p.A556A	NM_004044	NP_004035	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide	557					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	p.A557A(1)	ATIC/ALK(24)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	GTGGTGTGGCGTACATTGCGG	0.468			T	ALK	ALCL								A	216214270	G	A	216214270	2	1	37	1	0	0	0	0	0	0	0	1	1105	1132	40	1		1	ATIC	2	216214270	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	7595870	216214270	26985103	183	34248											
CYP27A1	1593	broad.mit.edu	37	chr2	219674400	219674400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcttggagcaagtgatgcGgcaagagggcaagtacccag	15	9	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:219674400G>A	uc002viz.3	+	2	790	c.356G>A	c.(355-357)CGG>CAG	p.R119Q		NM_000784	NP_000775	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A,	119					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CAAGTGATGCGGCAAGAGGGC	0.587													A	219674400	G	A	219674400	3	1	37	1	0	0	0	0	1	0	0	0	4158	1116	39	1	362	1	CYP27A1	2	219674400	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3460130	219674400	23524973	184	34249											
IHH	3549	broad.mit.edu	37	chr2	219920330	219920330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtgtgattgtcagccgTaaagagcaggtgagcgggtg	16	8	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:219920330T>C	uc002vjo.1	-	3	835	c.835A>G	c.(835-837)ACG>GCG	p.T279A		NM_002181	NP_002172	Q14623	IHH_HUMAN	Indian hedgehog homolog precursor	279					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)	1		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTCAGCCGTAAAGAGCAGG	0.662													C	219920330	T	C	219920330	3	2	37	1	0	0	0	0	1	0	0	0	7607	1638	57	3	404	3	IHH	2	219920330	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	245930	219920330	23279043	185	34250											
WDFY1	57590	broad.mit.edu	37	chr2	224782711	224782711	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaccactgtctcttttcaGccatacccggatggttctgt	8	12	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:224782711G>A	uc002vnq.2	-	2	205	c.154C>T	c.(154-156)CTG>TTG	p.L52L		NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	52	WD 1.					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			lung(1)	1		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TCTCTTTTCAGCCATACCCGG	0.353													A	224782711	G	A	224782711	2	1	37	1	0	0	0	0	0	0	0	1	17265	962	34	2		2	WDFY1	2	224782711	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	4862381	224782711	18416662	186	34251											
FAM124B	79843	broad.mit.edu	37	chr2	225265836	225265836	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcatggattgggtagcagaGgcactaactggccgatctct	13	9	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:225265836G>T	uc002vnx.2	-	1	876	c.650C>A	c.(649-651)CCT>CAT	p.P217H	FAM124B_uc002vnw.2_Missense_Mutation_p.P217H	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	hypothetical protein LOC79843 isoform a	217							protein binding			ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		GGGTAGCAGAGGCACTAACTG	0.532													T	225265836	G	T	225265836	3	4	37	1	0	0	0	0	1	0	0	0	5426	1000	35	5	816	5	FAM124B	2	225265836	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	483125	225265836	17933537	187	34252											
TRIP12	9320	broad.mit.edu	37	chr2	230723553	230723553	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgacttagaagaccctggaAgagacagttttgttttagga	11	6	0	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:230723553A>G	uc002vpw.1	-	3	945	c.836T>C	c.(835-837)CTT>CCT	p.L279P	TRIP12_uc002vpx.1_Missense_Mutation_p.L321P|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Missense_Mutation_p.L279P	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	279					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGACCCTGGAAGAGACAGTTT	0.388													G	230723553	A	G	230723553	3	3	37	1	0	0	0	0	1	0	0	0	16553	72	3	3	5298	3	TRIP12	2	230723553	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	5457717	230723553	12475820	188	34253											
SP140L	93349	broad.mit.edu	37	chr2	231266129	231266129	+	Frame_Shift_Del	DEL	T	T	-													attgctgttctgagagctccTtttttgccaagattccatac							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:231266129delT	uc010fxm.1	+	17	1562	c.1471delT	c.(1471-1473)TTTfs	p.F491fs	SP140L_uc010fxo.1_3'UTR	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	Error:Variant_position_missing_in_Q9H930_after_alignment						nucleus	DNA binding|metal ion binding			central_nervous_system(1)	1						TGAGAGCTCCTTTTTTGCCAA	0.433													-	231266129	T	-	231266129	7	5	37	1	0	1	0	1	0	0	0	0	14963	1609	56	0	1537	0	SP140L	2	231266129	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	542576	231266129	11933244	189	34254											
ALPI	248	broad.mit.edu	37	chr2	233322527	233322527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctggtatgtgtggaaccGcactgagctcatgcaggcgt	14	10	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:233322527G>A	uc002vst.3	+	7	883	c.806G>A	c.(805-807)CGC>CAC	p.R269H	ALPI_uc002vsu.3_Missense_Mutation_p.R180H	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	269					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GTGTGGAACCGCACTGAGCTC	0.627													A	233322527	G	A	233322527	3	1	37	1	0	0	0	0	1	0	0	0	543	1087	38	1	832	1	ALPI	2	233322527	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2056398	233322527	9876846	190	34255											
HJURP	55355	broad.mit.edu	37	chr2	234749594	234749594	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgaacttccatacttgctTtatctgtagacactccaata	4	11	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:234749594T>C	uc002vvg.2	-	8	1898	c.1832A>G	c.(1831-1833)AAA>AGA	p.K611R	HJURP_uc010znd.1_Missense_Mutation_p.K550R|HJURP_uc010zne.1_Missense_Mutation_p.K519R	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	611					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CATACTTGCTTTATCTGTAGA	0.403													C	234749594	T	C	234749594	3	2	37	1	0	0	0	0	1	0	0	0	7189	1841	64	3	422	3	HJURP	2	234749594	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	1427067	234749594	8449779	191	34256											
AGAP1	116987	broad.mit.edu	37	chr2	236649677	236649677	+	Frame_Shift_Del	DEL	C	C	-													ctgatcagagatgaagggggCcccccggaggcgcaggtgag							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:236649676_236649676GC>G	uc002vvs.3	+	3	978	c.380_380GC>G	c.(379-381)ggcfs	p.G127fs	AGAP1_uc002vvt.3_Frame_Shift_Del_p.G127fs|AGAP1_uc021vyp.1_Frame_Shift_Del_p.G127fs	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	127	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	p.G127A(2)|p.G127G(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GATGAAGGGGGCCCCCCGGAG	0.488													-	236649677	C	-	236649677	7	5	37	1	0	1	0	1	0	0	0	0	366	726	26	0	395	0	AGAP1	2	236649677	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	1900083	236649677	6549696	192	34257											
GBX2	2637	broad.mit.edu	37	chr2	237076276	237076276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggtgctggggcgacgcGgagaagccgccggggagcgt	20	11	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:237076276G>A	uc002vvw.1	-	1	377	c.339C>T	c.(337-339)TCC>TCT	p.S113S	GBX2_uc010zng.1_Silent_p.S103S	NM_001485	NP_001476	P52951	GBX2_HUMAN	gastrulation brain homeo box 2	113				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GGGGCGACGCGGAGAAGCCGC	0.726													A	237076276	G	A	237076276	2	1	37	1	0	0	0	0	0	0	0	1	6281	1103	39	1		1	GBX2	2	237076276	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	426599	237076276	6123097	193	34258											
COPS8	10920	broad.mit.edu	37	chr2	238002750	238002750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatgcaacaaggagacgcGcctttgccctggtctctcaa	10	12	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:238002750G>A	uc002vwh.2	+	5	873	c.349G>A	c.(349-351)GCC>ACC	p.A117T	COPS8_uc010fys.1_RNA|COPS8_uc002vwg.2_Missense_Mutation_p.A68T|COPS8_uc002vwi.2_Missense_Mutation_p.A117T	NM_006710	NP_006701	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8 isoform 1	117	PCI.				cullin deneddylation	cytoplasm|signalosome				ovary(1)	1		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		AAGGAGACGCGCCTTTGCCCT	0.478													A	238002750	G	A	238002750	3	1	37	1	0	0	0	0	1	0	0	0	3740	1087	38	1	367	1	COPS8	2	238002750	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	926474	238002750	5196623	194	34259											
MLPH	79083	broad.mit.edu	37	chr2	238419298	238419298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctgaacgagacccactgCgcccgctgcctgcagcccta	9	18	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:238419298C>T	uc002vwt.2	+	3	419	c.192C>T	c.(190-192)TGC>TGT	p.C64C	MLPH_uc002vws.2_Silent_p.C64C|MLPH_uc010fyt.1_Silent_p.C64C|MLPH_uc002vwu.2_Silent_p.C64C|MLPH_uc002vwv.2_Silent_p.C64C|MLPH_uc002vww.2_Silent_p.C40C	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN	melanophilin isoform 1	64	FYVE-type.|RabBD.						metal ion binding			ovary(1)	1		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AGACCCACTGCGCCCGCTGCC	0.562													T	238419298	C	T	238419298	2	4	37	1	0	0	0	0	0	0	0	1	9633	776	27	1		1	MLPH	2	238419298	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	416548	238419298	4780075	195	34260											
OR6B2	389090	broad.mit.edu	37	chr2	240969039	240969039	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagagatgagcttgttggAgctctgggaatcaatggctt	15	6	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:240969039A>G	uc002vyr.2	-	2	854	c.808T>C	c.(808-810)TCC>CCC	p.S270P	OR6B2_uc010zoc.1_Missense_Mutation_p.S270P	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B,	270	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		AGCTTGTTGGAGCTCTGGGAA	0.488													G	240969039	A	G	240969039	3	3	37	1	0	0	0	0	1	0	0	0	11188	304	11	3	132	3	OR6B2	2	240969039	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	2549741	240969039	2230334	196	34261											
SRGAP3	9901	broad.mit.edu	37	chr3	9027355	9027355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggggcgggcggagctgggCgccagccaggcgggcggaca	24	11	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:9027355C>T	uc003brf.1	-	22	3824	c.3148G>A	c.(3148-3150)GCC>ACC	p.A1050T	SRGAP3_uc003brg.1_Missense_Mutation_p.A1026T	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	1050					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CGGAGCTGGGCGCCAGCCAGG	0.751			T	RAF1	pilocytic astrocytoma								T	9027355	C	T	9027355	3	4	37	1	0	0	0	0	1	0	0	0	15146	768	27	1	155	1	SRGAP3	3	9027355	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08		9027355	188995075	197	34262											
MTMR14	64419	broad.mit.edu	37	chr3	9714373	9714373	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatccttgtcttgtagtgtaAcctcctctgagaaggtggac	10	9	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:9714373A>G	uc003brz.2	+	7	806	c.682A>G	c.(682-684)ACC>GCC	p.T228A	MTMR14_uc003bsa.2_Missense_Mutation_p.T228A|MTMR14_uc003bsb.2_Missense_Mutation_p.T228A|MTMR14_uc011ath.1_RNA|MTMR14_uc010hcl.2_Intron|MTMR14_uc003bsc.2_RNA	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	jumpy isoform 2	228						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(99;0.227)					TTGTAGTGTAACCTCCTCTGA	0.488													G	9714373	A	G	9714373	3	3	37	1	0	0	0	0	1	0	0	0	9942	43	2	3	708	3	MTMR14	3	9714373	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	687018	9714373	188308057	198	34263											
ZFYVE20	64145	broad.mit.edu	37	chr3	15116004	15116004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctctgaagtccagggacCgagtccgtgtgtgcagggat	14	9	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:15116004C>T	uc003bzm.1	-	14	2254	c.1640G>A	c.(1639-1641)CGG>CAG	p.R547Q	ZFYVE20_uc010hek.1_Missense_Mutation_p.R547Q	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	547	Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						GTCCAGGGACCGAGTCCGTGT	0.582													T	15116004	C	T	15116004	3	4	37	1	0	0	0	0	1	0	0	0	17663	652	23	1	718	1	ZFYVE20	3	15116004	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	5401631	15116004	182906426	199	34264											
RBMS3	27303	broad.mit.edu	37	chr3	30029683	30029683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctacattcctcagtacaCgcctgtgcctccgacagctg	8	16	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:30029683C>T	uc003cel.2	+	13	1378	c.1148C>T	c.(1147-1149)ACG>ATG	p.T383M	RBMS3_uc003cek.2_Missense_Mutation_p.T367M|RBMS3_uc010hfq.2_Missense_Mutation_p.T380M|RBMS3_uc003cem.2_Missense_Mutation_p.T365M|RBMS3_uc010hfr.2_Missense_Mutation_p.T367M	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	383						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				CCTCAGTACACGCCTGTGCCT	0.433													T	30029683	C	T	30029683	3	4	37	1	0	0	0	0	1	0	0	0	13150	536	19	1	1241	1	RBMS3	3	30029683	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	14913679	30029683	167992747	200	34265											
DYNC1LI1	51143	broad.mit.edu	37	chr3	32569943	32569943	+	Frame_Shift_Del	DEL	T	T	-													ttcccataagcatacctgacTttttggtggatggtggtaaa							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:32569942_32569942CT>C	uc003cfb.4	-	11	1562	c.1458_1458AG>G	c.(1456-1458)aagfs	p.K486fs	DYNC1LI1_uc011axh.2_Frame_Shift_Del_p.K370fs	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	Homo sapiens dynein, cytoplasmic 1, light intermediate chain 1 (DYNC1LI1), mRNA.	486					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						GCATACCTGACTTTTTGGTGG	0.448													-	32569943	T	-	32569943	7	5	37	1	0	1	0	1	0	0	0	0	4844	1609	56	0	122	0	DYNC1LI1	3	32569943	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	2540260	32569943	165452487	201	34266											
EPM2AIP1	9852	broad.mit.edu	37	chr3	37033859	37033859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccaaccattctctgcaagCtaagccctgctgtctgcagg	9	14	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:37033859C>T	uc003cgk.2	-	1	937	c.710G>A	c.(709-711)AGC>AAC	p.S237N	MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN	EPM2A interacting protein 1	237						endoplasmic reticulum					0						TCTCTGCAAGCTAAGCCCTGC	0.498													T	37033859	C	T	37033859	3	4	37	1	0	0	0	0	1	0	0	0	5184	797	28	2	1117	2	EPM2AIP1	3	37033859	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	4463916	37033859	160988571	202	34267											
SCN10A	6336	broad.mit.edu	37	chr3	38793834	38793834	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagggagggggccttgctggCcagcacccccacccagcagc	14	16	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:38793834C>A	uc003ciq.2	-	11	1631	c.1631G>T	c.(1630-1632)GGC>GTC	p.G544V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	544					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCCTTGCTGGCCAGCACCCCC	0.602													A	38793834	C	A	38793834	3	1	37	1	0	0	0	0	1	0	0	0	13912	739	26	5	4307	5	SCN10A	3	38793834	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1759975	38793834	159228596	203	34268											
ZNF619	285267	broad.mit.edu	37	chr3	40529635	40529635	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccctcatctgaaaaggccaAcccttcacctgtccaaatag	5	15	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:40529635A>T	uc011azb.1	+	6	2032	c.1754A>T	c.(1753-1755)AAC>ATC	p.N585I	ZNF619_uc010hhz.2_Missense_Mutation_p.N536I|ZNF619_uc003ckj.2_Missense_Mutation_p.N529I|ZNF619_uc011azc.1_Missense_Mutation_p.N545I|ZNF619_uc011azd.1_Missense_Mutation_p.N501I|ZNF619_uc011aza.1_Missense_Mutation_p.N487I	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619 isoform 1	585					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GAAAAGGCCAACCCTTCACCT	0.522													T	40529635	A	T	40529635	3	4	37	1	0	0	0	0	1	0	0	0	18040	43	2	5	1794	5	ZNF619	3	40529635	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	1735801	40529635	157492795	204	34269											
CTNNB1	1499	broad.mit.edu	37	chr3	41265566	41265566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccagcgtggacaatggctActcaaggtttgtgtcattaa	10	8	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:41265566A>G	uc010hia.1	+	3	163	c.7A>G	c.(7-9)ACT>GCT	p.T3A	CTNNB1_uc003ckp.2_Missense_Mutation_p.T3A|CTNNB1_uc003ckq.2_Missense_Mutation_p.T3A|CTNNB1_uc003ckr.2_Missense_Mutation_p.T3A|CTNNB1_uc011azf.1_5'UTR|CTNNB1_uc011azg.1_Missense_Mutation_p.T3A|uc010hib.1_Intron	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	3	Interaction with VCL (By similarity).				adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.T3_A126del(2)|p.A5_A80del(2)|p.T3S(2)|p.M1_V173del(1)|p.?(1)|p.M1_T42del(1)|p.M1_A87del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GACAATGGCTACTCAAGGTTT	0.393		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				G	41265566	A	G	41265566	3	3	37	1	0	0	0	0	1	0	0	0	4016	391	14	3	9	3	CTNNB1	3	41265566	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	735931	41265566	156756864	205	34270											
VIPR1	7433	broad.mit.edu	37	chr3	42568962	42568962	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccctcgccacccttctggtCgccacagctatcctgagcct	7	19	1	1	rs149397146	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:42568962C>T	uc003clf.2	+	5	601	c.477C>T	c.(475-477)GTC>GTT	p.V159V	VIPR1_uc011azl.1_Silent_p.V111V|VIPR1_uc011azm.1_Intron|VIPR1_uc011azn.1_Silent_p.V132V	NM_004624	NP_004615	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	159	Helical; Name=1; (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CCCTTCTGGTCGCCACAGCTA	0.612													T	42568962	C	T	42568962	2	4	37	1	0	0	0	0	0	0	0	1	17166	871	31	1		1	VIPR1	3	42568962	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1303396	42568962	155453468	206	34271											
FYCO1	79443	broad.mit.edu	37	chr3	46009009	46009009	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcctggctgccctctTgcaccttggtatcgtctaac	7	16	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:46009009T>C	uc003cpb.3	-	8	2023	c.1817A>G	c.(1816-1818)CAA>CGA	p.Q606R	FYCO1_uc011bal.1_Missense_Mutation_p.Q606R	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	606	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCTGCCCTCTTGCACCTTGGT	0.627													C	46009009	T	C	46009009	3	2	37	1	0	0	0	0	1	0	0	0	6125	1812	63	3	2663	3	FYCO1	3	46009009	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	3440047	46009009	152013421	207	34272											
CCR2	729230	broad.mit.edu	37	chr3	46399125	46399125	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctccctgtcataaatttgAcgtgaagcaaattggggccc	10	10	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:46399125A>T	uc003cpn.3	+	2	592	c.107A>T	c.(106-108)GAC>GTC	p.D36V	CCR2_uc003cpm.3_Missense_Mutation_p.D36V	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2 isoform A	36	Extracellular (Potential).				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			lung(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CATAAATTTGACGTGAAGCAA	0.463													T	46399125	A	T	46399125	3	4	37	1	0	0	0	0	1	0	0	0	2941	275	10	5	109	5	CCR2	3	46399125	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	390116	46399125	151623305	208	34273											
SETD2	29072	broad.mit.edu	37	chr3	47147551	47147551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcgtgcatactccttcactCgagctttaaactctttatga	5	11	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:47147551C>T	uc003cqs.2	-	6	4828	c.4775G>A	c.(4774-4776)CGA>CAA	p.R1592Q	SETD2_uc003cqv.2_Missense_Mutation_p.R1581Q	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1592	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTCCTTCACTCGAGCTTTAAA	0.398			N|F|S|Mis		clear cell renal carcinoma								T	47147551	C	T	47147551	3	4	37	1	0	0	0	0	1	0	0	0	14131	884	31	1	2983	1	SETD2	3	47147551	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	748426	47147551	150874879	209	34274											
PTPN23	25930	broad.mit.edu	37	chr3	47449946	47449946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctctcagcgtccggccCgacactgtcaggaaccttgt	12	15	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:47449946C>T	uc003crf.1	+	15	1392	c.1296C>T	c.(1294-1296)CCC>CCT	p.P432P	PTPN23_uc011baw.1_Silent_p.P397P|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Silent_p.P302P	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	432					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCGTCCGGCCCGACACTGTCA	0.587													T	47449946	C	T	47449946	2	4	37	1	0	0	0	0	0	0	0	1	12788	639	23	1		1	PTPN23	3	47449946	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	302395	47449946	150572484	210	34275											
PLXNB1	5364	broad.mit.edu	37	chr3	48454291	48454291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaagaagatcctctccgCatacaccttgtagtcgagga	11	10	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:48454291C>T	uc003csw.2	-	25	4984	c.4714G>A	c.(4714-4716)GCG>ACG	p.A1572T	PLXNB1_uc003cst.2_Missense_Mutation_p.A22T|PLXNB1_uc003csu.2_Missense_Mutation_p.A1389T|PLXNB1_uc003csx.2_Missense_Mutation_p.A1572T	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1572	Cytoplasmic (Potential).				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATCCTCTCCGCATACACCTTG	0.617													T	48454291	C	T	48454291	3	4	37	1	0	0	0	0	1	0	0	0	12123	710	25	2	1749	2	PLXNB1	3	48454291	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1004345	48454291	149568139	211	34276											
COL7A1	1294	broad.mit.edu	37	chr3	48612948	48612948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtcgcccttcagcccgcGttctccaggaaagccgatgg	12	15	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:48612948G>A	uc003ctz.2	-	73	6005	c.6004C>T	c.(6004-6006)CGC>TGC	p.R2002C		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2002	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCAGCCCGCGTTCTCCAGGA	0.692													A	48612948	G	A	48612948	3	1	37	1	0	0	0	0	1	0	0	0	3704	1145	40	1	3014	1	COL7A1	3	48612948	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	158657	48612948	149409482	212	34277											
COL7A1	1294	broad.mit.edu	37	chr3	48628240	48628240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggaagcaccagggtcCgctcaacccctaagagagaa	10	14	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:48628240C>T	uc003ctz.2	-	13	1647	c.1646G>A	c.(1645-1647)CGG>CAG	p.R549Q		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	549	Fibronectin type-III 4.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACCAGGGTCCGCTCAACCCC	0.587													T	48628240	C	T	48628240	3	4	37	1	0	0	0	0	1	0	0	0	3704	652	23	1	7612	1	COL7A1	3	48628240	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	15292	48628240	149394190	213	34278											
AMIGO3	386724	broad.mit.edu	37	chr3	49755668	49755668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcagcggcaggcacggcGgcagcagcggcagggtgggg	23	11	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:49755668G>A	uc003cxj.2	-	1	1571	c.1231C>T	c.(1231-1233)CGC>TGC	p.R411C	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	411	Cytoplasmic (Potential).				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		caggcacggcggcagcagcgg	0.522													A	49755668	G	A	49755668	3	1	37	1	0	0	0	0	1	0	0	0	577	1116	39	1	287	1	AMIGO3	3	49755668	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1127428	49755668	148266762	214	34279											
DNAH1	25981	broad.mit.edu	37	chr3	52395698	52395698	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctggggcctgggcctgcttCgacgagttcaatcgcatcga	14	12	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:52395698C>T	uc011bef.1	+	30	5157	c.4896C>T	c.(4894-4896)TTC>TTT	p.F1632F		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1632	CFDEFNR motif.|AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGCCTGCTTCGACGAGTTCA	0.642													T	52395698	C	T	52395698	2	4	37	1	0	0	0	0	0	0	0	1	4597	883	31	1		1	DNAH1	3	52395698	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2640030	52395698	145626732	215	34280											
STAB1	23166	broad.mit.edu	37	chr3	52547908	52547909	+	Frame_Shift_Ins	INS	-	-	C													tctgtaccaggtcttactgcINSccccccgaggggatgtgccc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:52547907_52547908G>GC	uc003dej.3	+	31	3431_3432	c.3357_3358G>GC	c.(3355-3360)ctgcccfs	p.L1119fs		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1119					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.R1122fs*37(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGGTCTTACTGCCCCCCCGAGG	0.624													C	52547909	-	C	52547908	7	5	37	1	0	1	1	0	0	0	0	0	15236	739	26	0	3484	0	STAB1	3	52547908	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	152210	52547908	145474522	216	34281											
ITIH3	3699	broad.mit.edu	37	chr3	52841006	52841006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttggaaaactgggcatcGccaatgctcagatggacttc	10	10	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:52841006G>A	uc003dfv.2	+	19	2182	c.2146G>A	c.(2146-2148)GCC>ACC	p.A716T	ITIH3_uc011bek.1_Intron	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	716				A -> R (in Ref. 1; CAA47439 and 8; CAA32821).	hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACTGGGCATCGCCAATGCTCA	0.562													A	52841006	G	A	52841006	3	1	37	1	0	0	0	0	1	0	0	0	7905	1087	38	1	2220	1	ITIH3	3	52841006	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	293098	52841006	145181424	217	34282											
CHDH	55349	broad.mit.edu	37	chr3	53857838	53857838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcctccagcagcagcacGcgctcggcggggtcctccgt	14	18	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:53857838G>A	uc003dgz.2	-	3	638	c.198C>T	c.(196-198)CGC>CGT	p.R66R		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	choline dehydrogenase precursor	66	FAD (By similarity).				alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			ovary(1)|central_nervous_system(1)	2		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GCAGCAGCACGCGCTCGGCGG	0.721													A	53857838	G	A	53857838	2	1	37	1	0	0	0	0	0	0	0	1	3333	1074	38	1		1	CHDH	3	53857838	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1016832	53857838	144164592	218	34283											
ACTR8	93973	broad.mit.edu	37	chr3	53911269	53911269	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagtgggatttccaagTatttttgtatcgcatgagac	9	7	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:53911269T>C	uc003dhd.2	-	5	715	c.656A>G	c.(655-657)TAC>TGC	p.Y219C	ACTR8_uc003dhb.2_Translation_Start_Site|ACTR8_uc003dhc.2_Missense_Mutation_p.Y108C	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	219					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		GATTTCCAAGTATTTTTGTAT	0.388													C	53911269	T	C	53911269	3	2	37	1	0	0	0	0	1	0	0	0	217	1638	57	3	1254	3	ACTR8	3	53911269	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	53431	53911269	144111161	219	34284											
ABHD6	57406	broad.mit.edu	37	chr3	58279408	58279408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggcactcagtagtgatGgaaagacccaggaagacagc	14	8	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:58279408G>A	uc003djs.3	+	9	1340	c.930G>A	c.(928-930)ATG>ATA	p.M310I	ABHD6_uc003djr.2_Missense_Mutation_p.M311I|ABHD6_uc003djt.3_Missense_Mutation_p.M310I	NM_020676	NP_065727	Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	310	Cytoplasmic (Potential).					integral to membrane	acylglycerol lipase activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CAGTAGTGATGGAAAGACCCA	0.532													A	58279408	G	A	58279408	3	1	37	1	0	0	0	0	1	0	0	0	86	1348	47	4	960	4	ABHD6	3	58279408	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	4368139	58279408	139743022	220	34285											
ADAMTS9	56999	broad.mit.edu	37	chr3	64619404	64619404	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttagggacccagcgcacatTgggaagcagaccgttgatgt	13	9	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:64619404T>C	uc003dmg.2	-	13	2040	c.2008A>G	c.(2008-2010)AAT>GAT	p.N670D	ADAMTS9_uc011bfo.1_Missense_Mutation_p.N642D|ADAMTS9_uc003dmh.1_Missense_Mutation_p.N499D|ADAMTS9_uc003dmk.1_Missense_Mutation_p.N670D	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	670	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAGCGCACATTGGGAAGCAGA	0.522													C	64619404	T	C	64619404	3	2	37	1	0	0	0	0	1	0	0	0	273	1812	63	3	3907	3	ADAMTS9	3	64619404	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	6339996	64619404	133403026	221	34286											
FAM19A4	151647	broad.mit.edu	37	chr3	68788325	68788325	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaacacggattcatgtgacaCcaccatttctgaatcacaat	5	11	3	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:68788325C>G	uc003dnh.1	-	5	755	c.312G>C	c.(310-312)TGG>TGC	p.W104C	FAM19A4_uc003dni.1_Missense_Mutation_p.W104C	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine	104						extracellular region				skin(2)	2		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		TCATGTGACACCACCATTTCT	0.403													G	68788325	C	G	68788325	3	3	37	1	0	0	0	0	1	0	0	0	5534	508	18	5	118	5	FAM19A4	3	68788325	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	4168921	68788325	129234105	222	34287											
C3orf64	285203	broad.mit.edu	37	chr3	69027566	69027566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccaagtctaagtaacagCgttcatcttcacagttgtac	8	10	4	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:69027566C>T	uc003dnl.2	-	17	1760	c.1355G>A	c.(1354-1356)CGC>CAC	p.R452H	C3orf64_uc003dnj.2_Missense_Mutation_p.R131H|C3orf64_uc003dnk.2_Missense_Mutation_p.R368H|C3orf64_uc011bfw.1_RNA	NM_173654	NP_775925	Q5NDL2	AER61_HUMAN	AER61 glycosyltransferase	452						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)	1		Lung NSC(201;0.126)		BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216)		TAAGTAACAGCGTTCATCTTC	0.433													T	69027566	C	T	69027566	3	4	37	1	0	0	0	0	1	0	0	0	2240	768	27	1	236	1	C3orf64	3	69027566	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	239241	69027566	128994864	223	34288											
ROBO2	6092	broad.mit.edu	37	chr3	77147272	77147272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaactgcaaggcggagggcCggccaacgcccaccattgag	14	13	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:77147272C>T	uc003dpy.3	+	2	812	c.169C>T	c.(169-171)CGG>TGG	p.R57W	ROBO2_uc003dpz.2_Missense_Mutation_p.R57W|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.R57W	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	57	Ig-like C2-type 1.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGCGGAGGGCCGGCCAACGCC	0.607													T	77147272	C	T	77147272	3	4	37	1	0	0	0	0	1	0	0	0	13514	652	23	1	177	1	ROBO2	3	77147272	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	8119706	77147272	120875158	224	34289											
HTR1F	3355	broad.mit.edu	37	chr3	88040785	88040785	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagcagccactaccctgGgattaatcttgggtgcattt	11	9	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:88040785G>T	uc003dqr.2	+	2	1044	c.886G>T	c.(886-888)GGA>TGA	p.G296*		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	296	Helical; Name=6; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CACTACCCTGGGATTAATCTT	0.378													T	88040785	G	T	88040785	4	4	37	1	0	0	0	0	0	1	0	0	7440	1233	43	5	888	5	HTR1F	3	88040785	Nonsense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	10893513	88040785	109981645	225	34290											
ARL13B	200894	broad.mit.edu	37	chr3	93768344	93768344	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctcctgagagtccaacGccacccccaccccctcctcc	6	22	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:93768344G>A	uc003drc.2	+	8	1405	c.1119G>A	c.(1117-1119)ACG>ACA	p.T373T	ARL13B_uc010hop.2_Silent_p.T224T|ARL13B_uc003drd.2_Silent_p.T266T|ARL13B_uc003dre.2_Silent_p.T358T|ARL13B_uc003drf.2_Silent_p.T373T|ARL13B_uc003drg.2_Silent_p.T270T	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 2-like 1 isoform 1	373	Pro-rich.						GTP binding				0						AGAGTCCAACGCCACCCCCAC	0.373													A	93768344	G	A	93768344	2	1	37	1	0	0	0	0	0	0	0	1	929	1074	38	1		1	ARL13B	3	93768344	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	5727559	93768344	104254086	226	34291											
MORC1	27136	broad.mit.edu	37	chr3	108818240	108818240	+	Frame_Shift_Del	DEL	A	A	-													ttcttcacagaatgtctgagAaaaaaacacacaggtcatcg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:108818239_108818239GA>G	uc003dxl.3	-	5	476	c.389_389TC>C	c.(388-390)tctfs	p.S130fs	MORC1_uc011bhn.2_Frame_Shift_Del_p.S130fs	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	130					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GAATGTCTGAGAAAAAAACAC	0.358													-	108818240	A	-	108818240	7	5	37	1	0	1	0	1	0	0	0	0	9701	246	9	0	2658	0	MORC1	3	108818240	Frame_Shift_Del	DEL	A	TCGA-BR-6566-01A-11D-1800-08	15049896	108818240	89204190	227	34292											
BOC	91653	broad.mit.edu	37	chr3	112969475	112969475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcactgtgatcttgggctgCgtggtggaacctccaaggat	15	9	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:112969475C>T	uc003dzx.2	+	4	792	c.171C>T	c.(169-171)TGC>TGT	p.C57C	BOC_uc010hqi.2_Silent_p.C57C|BOC_uc003dzy.2_Silent_p.C57C|BOC_uc003dzz.2_Silent_p.C57C|BOC_uc003dzw.1_Silent_p.C57C|BOC_uc003eaa.1_Silent_p.C57C	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	57	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			TCTTGGGCTGCGTGGTGGAAC	0.597													T	112969475	C	T	112969475	2	4	37	1	0	0	0	0	0	0	0	1	1481	776	27	1		1	BOC	3	112969475	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	4151235	112969475	85052955	228	34293											
BOC	91653	broad.mit.edu	37	chr3	112993495	112993495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgagggcagtggccgggCgccaatcctctactatgtgg	15	11	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:112993495C>T	uc003dzx.2	+	9	2129	c.1508C>T	c.(1507-1509)GCG>GTG	p.A503V	BOC_uc003dzy.2_Missense_Mutation_p.A503V|BOC_uc003dzz.2_Missense_Mutation_p.A503V|BOC_uc003eab.2_Missense_Mutation_p.A204V	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	503	Fibronectin type-III 1.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			AGTGGCCGGGCGCCAATCCTC	0.632													T	112993495	C	T	112993495	3	4	37	1	0	0	0	0	1	0	0	0	1481	768	27	1	1534	1	BOC	3	112993495	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	24020	112993495	85028935	229	34294											
WDR52	55779	broad.mit.edu	37	chr3	113122717	113122717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctaacatatccatctgaCccaacagtgataacttcacc	3	15	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:113122717C>T	uc003eae.1	-	9	1198	c.1152G>A	c.(1150-1152)GGG>GGA	p.G384G		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	384	WD 4.									central_nervous_system(1)	1						ATCCATCTGACCCAACAGTGA	0.433													T	113122717	C	T	113122717	2	4	37	1	0	0	0	0	0	0	0	1	17301	494	18	4		4	WDR52	3	113122717	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	129222	113122717	84899713	230	34295											
TMEM39A	55254	broad.mit.edu	37	chr3	119176962	119176962	+	Frame_Shift_Del	DEL	A	A	-													gagcaaccaacaggtagatgAaaaaaaggaattcaaagagt							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:119176961_119176961GA>G	uc003eck.1	-	2	603	c.240_240TC>C	c.(238-240)ttcfs	p.F80fs	TMEM39A_uc003ecl.1_5'UTR	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	Homo sapiens transmembrane protein 39A (TMEM39A), mRNA.	80						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		ACAGGTAGATGAAAAAAAGGA	0.423													-	119176962	A	-	119176962	7	5	37	1	0	1	0	1	0	0	0	0	16158	246	9	0	1255	0	TMEM39A	3	119176962	Frame_Shift_Del	DEL	A	TCGA-BR-6566-01A-11D-1800-08	6054245	119176962	78845468	231	34296											
CD80	941	broad.mit.edu	37	chr3	119263419	119263419	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgactgataacgtcacttcAgccaggtgttcccgcttgaa	9	11	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:119263419A>G	uc003ecq.2	-	3	791	c.396T>C	c.(394-396)GCT>GCC	p.A132A	CD80_uc010hqt.1_Silent_p.A132A|CD80_uc010hqu.1_Silent_p.A132A|CD80_uc003ecr.1_Silent_p.A132A	NM_005191	NP_005182	P33681	CD80_HUMAN	CD80 antigen precursor	132	Extracellular (Potential).|Ig-like V-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2					Abatacept(DB01281)	ACGTCACTTCAGCCAGGTGTT	0.463													G	119263419	A	G	119263419	2	3	37	1	0	0	0	0	0	0	0	1	3038	175	7	3		3	CD80	3	119263419	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	86457	119263419	78759011	232	34297											
CD80	941	broad.mit.edu	37	chr3	119263442	119263442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgttcccgcttgaaagCgtctttttcatacttcagaa	8	10	3	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:119263442C>T	uc003ecq.2	-	3	768	c.373G>A	c.(373-375)GCT>ACT	p.A125T	CD80_uc010hqt.1_Missense_Mutation_p.A125T|CD80_uc010hqu.1_Missense_Mutation_p.A125T|CD80_uc003ecr.1_Missense_Mutation_p.A125T	NM_005191	NP_005182	P33681	CD80_HUMAN	CD80 antigen precursor	125	Extracellular (Potential).|Ig-like V-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2					Abatacept(DB01281)	CGCTTGAAAGCGTCTTTTTCA	0.453													T	119263442	C	T	119263442	3	4	37	1	0	0	0	0	1	0	0	0	3038	768	27	1	509	1	CD80	3	119263442	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	23	119263442	78758988	233	34298											
NR1I2	8856	broad.mit.edu	37	chr3	119534599	119534599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgtgctgcagcaccgcGtggtggaccagctgcaggag	17	11	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:119534599G>A	uc003edj.2	+	8	2920	c.1081G>A	c.(1081-1083)GTG>ATG	p.V361M	NR1I2_uc003edi.2_Missense_Mutation_p.V324M|NR1I2_uc003edk.2_Missense_Mutation_p.V400M|NR1I2_uc003edl.2_Missense_Mutation_p.V249M	NM_003889	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	361	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	GCAGCACCGCGTGGTGGACCA	0.597													A	119534599	G	A	119534599	3	1	37	1	0	0	0	0	1	0	0	0	10620	1145	40	1	1228	1	NR1I2	3	119534599	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	271157	119534599	78487831	234	34299											
PDIA5	10954	broad.mit.edu	37	chr3	122864423	122864424	+	Missense_Mutation	DNP	TC	TC	AA													tgagaaggcagcagaagcccTccatggagaagcggatgtaa							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:122864423_122864424TC>AA	uc003egc.1	+	12	1021_1022	c.965_966TC>AA	c.(964-966)CTC>CAA	p.L322Q	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	322	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)		GCAGAAGCCCTCCATGGAGAAG	0.51													AA	122864424	TC	AA	122864423	3	1	37	1	0	0	0	0	1	0	0	0	11671	1551	54	5	1011	5	PDIA5	3	122864423	Missense_Mutation	DNP	TC	TCGA-BR-6566-01A-11D-1800-08	3329824	122864423	75158007	235	34300											
PLXNA1	5361	broad.mit.edu	37	chr3	126710304	126710304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtcaccattgaggggacGcccctgttcgtggacaagga	13	11	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:126710304G>A	uc003ejg.2	+	2	1207	c.1203G>A	c.(1201-1203)ACG>ACA	p.T401T		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	424	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		TTGAGGGGACGCCCCTGTTCG	0.647													A	126710304	G	A	126710304	2	1	37	1	0	0	0	0	0	0	0	1	12119	1074	38	1		1	PLXNA1	3	126710304	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3845881	126710304	71312126	236	34301											
PLXNA1	5361	broad.mit.edu	37	chr3	126732871	126732871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcacctaacagtactcctaCgaggggaacgatgtcagcga	10	11	2	0	rs147176760		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:126732871C>T	uc003ejg.2	+	10	2257	c.2253C>T	c.(2251-2253)TAC>TAT	p.Y751Y		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	774	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		AGTACTCCTACGAGGGGAACG	0.597													T	126732871	C	T	126732871	2	4	37	1	0	0	0	0	0	0	0	1	12119	547	19	1		1	PLXNA1	3	126732871	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	22567	126732871	71289559	237	34302											
COPG	22820	broad.mit.edu	37	chr3	128973580	128973580	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgcgagccctctgccagatCactgatgtgagtcgtgccgg	14	12	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:128973580C>T	uc003els.2	+	6	493	c.393C>T	c.(391-393)ATC>ATT	p.I131I	COPG_uc010htb.2_Silent_p.I37I	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	131					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4						TCTGCCAGATCACTGATGTGA	0.562													T	128973580	C	T	128973580	2	4	37	1	0	0	0	0	0	0	0	1	3731	816	29	4		4	COPG	3	128973580	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2240709	128973580	69048850	238	34303											
SLCO2A1	6578	broad.mit.edu	37	chr3	133664053	133664053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaagatagaatctgggcaCgagcagtccctgcggcaggc	15	10	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:133664053C>T	uc003eqa.3	-	10	1621	c.1347G>A	c.(1345-1347)TCG>TCA	p.S449S	SLCO2A1_uc003eqb.3_Silent_p.S373S|SLCO2A1_uc011blv.1_Silent_p.S268S	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	449	Extracellular (Potential).|Kazal-like.				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1						AATCTGGGCACGAGCAGTCCC	0.527													T	133664053	C	T	133664053	2	4	37	1	0	0	0	0	0	0	0	1	14726	523	19	1		1	SLCO2A1	3	133664053	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	4690473	133664053	64358377	239	34304											
EPHB1	2047	broad.mit.edu	37	chr3	134851848	134851848	+	Frame_Shift_Del	DEL	C	C	-													gtctccagcaagagtcccttCcccccacagcacgtctctgt							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:134851847_134851847TC>T	uc003eqt.3	+	4	1628	c.1253_1253TC>T	c.(1252-1254)ttcfs	p.F418fs	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_3'UTR|EPHB1_uc003equ.3_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	418	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AAGAGTCCCTTCCCCCCACAG	0.582													-	134851848	C	-	134851848	7	5	37	1	0	1	0	1	0	0	0	0	5174	854	30	0	1272	0	EPHB1	3	134851848	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	1187795	134851848	63170582	240	34305											
GPR87	53836	broad.mit.edu	37	chr3	151012163	151012163	+	Frame_Shift_Del	DEL	T	T	-													ttctttgcagtaatataggaTtttttgtgcagattcatcta							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:151012162_151012162AT>A	uc003eyt.2	-	2	1233	c.872_872AT>T	c.(871-873)atcfs	p.I291fs	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	Homo sapiens G protein-coupled receptor 87 (GPR87), mRNA.	291						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTAATATAGGATTTTTTGTGC	0.348													-	151012163	T	-	151012163	7	5	37	1	0	1	0	1	0	0	0	0	6716	1493	52	0	209	0	GPR87	3	151012163	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	16160315	151012163	47010267	241	34306											
PLCH1	23007	broad.mit.edu	37	chr3	155200068	155200068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactcgagagtgctatcagCtccggagatgagcacaggaa	13	9	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:155200068C>T	uc011bok.1	-	23	4048	c.3771G>A	c.(3769-3771)GAG>GAA	p.E1257E	PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Silent_p.E1219E	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	1257					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTGCTATCAGCTCCGGAGATG	0.483													T	155200068	C	T	155200068	2	4	37	1	0	0	0	0	0	0	0	1	12037	796	28	2		2	PLCH1	3	155200068	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	4187905	155200068	42822362	242	34307											
C3orf33	285315	broad.mit.edu	37	chr3	155481558	155481558	+	Frame_Shift_Del	DEL	T	T	-													tccttccatattccttctccTttttttaaggctgttaattc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:155481557_155481557CT>C	uc003fam.1	-	4	648	c.634_634AG>G	c.(634-636)ggafs	p.G212fs	C3orf33_uc003fal.1_Frame_Shift_Del_p.G169fs	NM_173657	NP_775928	Q96NB5	Q96NB5_HUMAN	Homo sapiens chromosome 3 open reading frame 33 (C3orf33), mRNA.	169							hydrolase activity, acting on ester bonds|nucleic acid binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATTCCTTCTCCTTTTTTTAAG	0.313													-	155481558	T	-	155481558	7	5	37	1	0	1	0	1	0	0	0	0	2223	1606	56	0	255	0	C3orf33	3	155481558	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	281490	155481558	42540872	243	34308											
GMPS	8833	broad.mit.edu	37	chr3	155633942	155633942	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgaactcatcaaaacccaTcacaatgacacagagctcat	5	13	4	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:155633942T>C	uc003faq.2	+	9	1508	c.1173T>C	c.(1171-1173)CAT>CAC	p.H391H	GMPS_uc011bom.1_Silent_p.H292H	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	391					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCAAAACCCATCACAATGACA	0.408			T	MLL	AML								C	155633942	T	C	155633942	2	2	37	1	0	0	0	0	0	0	0	1	6498	1432	50	3		3	GMPS	3	155633942	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	152384	155633942	42388488	244	34309											
MLF1	4291	broad.mit.edu	37	chr3	158315874	158315874	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttacctgtagggtcaActttcagtggatccaaatgg	10	7	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:158315874A>C	uc003fcb.2	+	4	422	c.285A>C	c.(283-285)CAA>CAC	p.Q95H	MLF1_uc003fbz.2_Missense_Mutation_p.Q70H|MLF1_uc003fca.2_Missense_Mutation_p.Q70H|MLF1_uc003fbx.2_Missense_Mutation_p.Q85H|MLF1_uc003fcc.2_Missense_Mutation_p.Q126H|MLF1_uc003fby.2_Missense_Mutation_p.Q21H|MLF1_uc010hvx.2_Intron	NM_022443	NP_071888	P58340	MLF1_HUMAN	myeloid leukemia factor 1 isoform 1	95	Interaction with COPS3.				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding				0		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TGTAGGGTCAACTTTCAGTGG	0.358			T	NPM1	AML								C	158315874	A	C	158315874	3	2	37	1	0	0	0	0	1	0	0	0	9614	40	2	5	299	5	MLF1	3	158315874	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	2681932	158315874	39706556	245	34310											
WDR49	151790	broad.mit.edu	37	chr3	167277851	167277851	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcatcattgtgttcgcaCctttacagtcccatctgtgc	7	12	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:167277851C>T	uc003fev.1	-	5	957	c.651_splice	c.e5+1	p.K217_splice	WDR49_uc003feu.1_Splice_Site_p.K42_splice|WDR49_uc011bpd.1_Splice_Site_p.K270_splice|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49											large_intestine(1)|ovary(1)|skin(1)	3						TGTGTTCGCACCTTTACAGTC	0.428													T	167277851	C	T	167277851	5	4	37	1	0	0	0	0	0	0	1	0	17299	521	18	4	1485	4	WDR49	3	167277851	Splice_Site	SNP	C	TCGA-BR-6566-01A-11D-1800-08	8961977	167277851	30744579	246	34311											
SAMD7	344658	broad.mit.edu	37	chr3	169642884	169642884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaatccataaaggcagtgGccagaaggaatgaaatgatt	11	6	0	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:169642884G>A	uc003fgd.2	+	5	517	c.250G>A	c.(250-252)GCC>ACC	p.A84T	SAMD7_uc003fge.2_Missense_Mutation_p.A84T|SAMD7_uc011bpo.1_5'UTR	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	84										skin(1)	1	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AAAGGCAGTGGCCAGAAGGAA	0.353													A	169642884	G	A	169642884	3	1	37	1	0	0	0	0	1	0	0	0	13824	1203	42	2	260	2	SAMD7	3	169642884	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2365033	169642884	28379546	247	34312											
SLC7A14	57709	broad.mit.edu	37	chr3	170204121	170204121	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgatgatgtcaaagccaaTgaaagcgtagaagcatgttg	13	6	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:170204121T>C	uc003fgz.2	-	5	1112	c.796A>G	c.(796-798)ATT>GTT	p.I266V	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	266	Helical; (Potential).					integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TCAAAGCCAATGAAAGCGTAG	0.527													C	170204121	T	C	170204121	3	2	37	1	0	0	0	0	1	0	0	0	14696	1464	51	3	1535	3	SLC7A14	3	170204121	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	561237	170204121	27818309	248	34313											
EIF4G1	1981	broad.mit.edu	37	chr3	184043127	184043127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagacgtcatcccgcatccGctttatgctgcaggacgtgc	11	13	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:184043127G>A	uc003fnp.2	+	19	3125	c.2927G>A	c.(2926-2928)CGC>CAC	p.R976H	EIF4G1_uc003fno.1_Missense_Mutation_p.R917H|EIF4G1_uc010hxw.1_Missense_Mutation_p.R812H|EIF4G1_uc003fnt.2_Missense_Mutation_p.R687H|EIF4G1_uc003fnq.2_Missense_Mutation_p.R889H|EIF4G1_uc003fnr.2_Missense_Mutation_p.R812H|EIF4G1_uc010hxx.2_Missense_Mutation_p.R983H|EIF4G1_uc003fns.2_Missense_Mutation_p.R936H|EIF4G1_uc010hxy.2_Missense_Mutation_p.R983H|EIF4G1_uc003fnv.3_Missense_Mutation_p.R977H|EIF4G1_uc003fnu.3_Missense_Mutation_p.R976H|EIF4G1_uc003fnw.2_Missense_Mutation_p.R983H|EIF4G1_uc003fnx.2_Missense_Mutation_p.R781H|EIF4G1_uc003fny.3_Missense_Mutation_p.R780H|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	976	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCCGCATCCGCTTTATGCTG	0.527													A	184043127	G	A	184043127	3	1	37	1	0	0	0	0	1	0	0	0	5036	1087	38	1	2993	1	EIF4G1	3	184043127	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	13839006	184043127	13979303	249	34314											
CLCN2	1181	broad.mit.edu	37	chr3	184075996	184075996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaggggccaggatctgtGtgaatccggctgagaaagtg	16	8	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:184075996G>A	uc003foi.2	-	4	579	c.455C>T	c.(454-456)ACA>ATA	p.T152I	CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Missense_Mutation_p.T152I|CLCN2_uc011brl.1_Missense_Mutation_p.T152I|CLCN2_uc011brm.1_Missense_Mutation_p.T108I|CLCN2_uc011brn.1_Missense_Mutation_p.T152I	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	152	Helical; (By similarity).					chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CAGGATCTGTGTGAATCCGGC	0.582													A	184075996	G	A	184075996	3	1	37	1	0	0	0	0	1	0	0	0	3463	1377	48	4	2325	4	CLCN2	3	184075996	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	32869	184075996	13946434	250	34315											
MAP3K13	9175	broad.mit.edu	37	chr3	185167821	185167821	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccacttgccctgatggaTtcaaaatccttatgaaacag	6	11	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:185167821T>C	uc010hyf.2	+	7	1410	c.1144T>C	c.(1144-1146)TTC>CTC	p.F382L	MAP3K13_uc011brt.1_Missense_Mutation_p.F175L|MAP3K13_uc003fph.3_Missense_Mutation_p.F150L|MAP3K13_uc011bru.1_Missense_Mutation_p.F238L|MAP3K13_uc003fpi.2_Missense_Mutation_p.F382L|MAP3K13_uc010hyg.2_Missense_Mutation_p.F72L	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	382	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CCCTGATGGATTCAAAATCCT	0.388													C	185167821	T	C	185167821	3	2	37	1	0	0	0	0	1	0	0	0	9247	1493	52	3	1162	3	MAP3K13	3	185167821	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	1091825	185167821	12854609	251	34316											
LSG1	55341	broad.mit.edu	37	chr3	194373625	194373625	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtagagctttccttccAgtcctggctgcagtcctctt	9	13	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:194373625A>G	uc003fui.2	-	8	1321	c.1006T>C	c.(1006-1008)TGG>CGG	p.W336R		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	336					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CTTTCCTTCCAGTCCTGGCTG	0.522													G	194373625	A	G	194373625	3	3	37	1	0	0	0	0	1	0	0	0	9049	188	7	3	998	3	LSG1	3	194373625	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	9205804	194373625	3648805	252	34317											
MUC4	4585	broad.mit.edu	37	chr3	195492283	195492283	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacggtagttgggcctttcTtcccggtgtagcctgtagaa	13	9	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:195492283T>C	uc011bto.1	-	10	13732	c.13272A>G	c.(13270-13272)GAA>GAG	p.E4424E	MUC4_uc003fuz.2_Silent_p.E150E|MUC4_uc003fva.2_Silent_p.E32E|MUC4_uc003fvb.2_Silent_p.E68E|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.E68E|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.E32E|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.E116E|MUC4_uc011bti.1_Silent_p.E116E|MUC4_uc011btj.1_Silent_p.E293E|MUC4_uc011btk.1_Silent_p.E32E|MUC4_uc011btl.1_Silent_p.E61E|MUC4_uc011btm.1_Silent_p.E241E|MUC4_uc011btn.1_Silent_p.E32E|MUC4_uc003fvo.2_Silent_p.E316E|MUC4_uc003fvp.2_Silent_p.E265E|MUC4_uc010hzu.1_Silent_p.E1164E	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1309	NIDO.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGGCCTTTCTTCCCGGTGTA	0.652													C	195492283	T	C	195492283	2	2	37	1	0	0	0	0	0	0	0	1	9978	1606	56	3		3	MUC4	3	195492283	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	1118658	195492283	2530147	253	34318											
FBXO45	200933	broad.mit.edu	37	chr3	196304666	196304666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttccacagtgcaacaacGcaccaaaatatcaggtgaga	8	10	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:196304666G>A	uc010iai.2	+	2	792	c.661G>A	c.(661-663)GCA>ACA	p.A221T		NM_001105573	NP_001099043	P0C2W1	FBSP1_HUMAN	F-box protein 45	221	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			skin(1)	1	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GTGCAACAACGCACCAAAATA	0.403													A	196304666	G	A	196304666	3	1	37	1	0	0	0	0	1	0	0	0	5754	1087	38	1	667	1	FBXO45	3	196304666	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	812383	196304666	1717764	254	34319											
DLG1	1739	broad.mit.edu	37	chr3	196792610	196792610	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatccaaatttgtcaggaaaTtctgagatcaagtcatcatt	7	7	5	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:196792610T>C	uc003fxo.3	-	22	2392	c.2202A>G	c.(2200-2202)GAA>GAG	p.E734E	DLG1_uc011bub.1_Silent_p.E630E|DLG1_uc011buc.1_Silent_p.E618E|DLG1_uc011bud.1_Silent_p.E417E|DLG1_uc003fxn.3_Silent_p.E756E|DLG1_uc011bue.1_Silent_p.E722E|DLG1_uc010ial.2_Silent_p.E734E	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	734	Guanylate kinase-like.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TGTCAGGAAATTCTGAGATCA	0.333													C	196792610	T	C	196792610	2	2	37	1	0	0	0	0	0	0	0	1	4554	1490	52	3		3	DLG1	3	196792610	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	487944	196792610	1229820	255	34320											
MAEA	10296	broad.mit.edu	37	chr4	1332301	1332301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgcagcccctgcccatgGcccactgtgccaactcccgc	10	20	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:1332301G>A	uc003gda.2	+	8	1021	c.991G>A	c.(991-993)GCC>ACC	p.A331T	MAEA_uc003gdb.2_Missense_Mutation_p.A290T|MAEA_uc011bvb.1_Missense_Mutation_p.A263T|MAEA_uc003gdc.2_Missense_Mutation_p.A263T|MAEA_uc003gdd.2_RNA|MAEA_uc011bvc.1_Missense_Mutation_p.A330T|MAEA_uc011bvd.1_Missense_Mutation_p.A283T|MAEA_uc010ibt.2_Missense_Mutation_p.A104T|MAEA_uc010ibu.2_RNA	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher isoform 1	331					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			CCTGCCCATGGCCCACTGTGC	0.612													A	1332301	G	A	1332301	3	1	37	1	0	0	0	0	1	0	0	0	9153	1203	42	2	1021	2	MAEA	4	1332301	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08		1332301	189821975	256	34321											
EVC2	132884	broad.mit.edu	37	chr4	5664972	5664972	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgctctcatactgccaaAccttcaggagaattgcggaa	9	11	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:5664972A>C	uc003gij.2	-	9	1061	c.1007T>G	c.(1006-1008)GTT>GGT	p.V336G	EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.V256G	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	336						integral to membrane				large_intestine(3)|ovary(2)	5						ATACTGCCAAACCTTCAGGAG	0.498													C	5664972	A	C	5664972	3	2	37	1	0	0	0	0	1	0	0	0	5286	57	2	5	2975	5	EVC2	4	5664972	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	4332671	5664972	185489304	257	34322											
TBC1D14	57533	broad.mit.edu	37	chr4	6925517	6925517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacgtttcccaggacagGctatgactcggtaaagctct	9	13	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:6925517G>A	uc011bwg.1	+	2	480	c.401G>A	c.(400-402)GGC>GAC	p.G134D	TBC1D14_uc003gjs.3_Missense_Mutation_p.G134D	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14 isoform a	134						intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2						CCCAGGACAGGCTATGACTCG	0.617													A	6925517	G	A	6925517	3	1	37	1	0	0	0	0	1	0	0	0	15600	1203	42	2	403	2	TBC1D14	4	6925517	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1260545	6925517	184228759	258	34323											
DRD5	1816	broad.mit.edu	37	chr4	9784677	9784677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgtcagtgagaccaccttcGacgtcttcgtctggttcggc	12	13	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:9784677G>A	uc003gmb.3	+	1	1420	c.1024G>A	c.(1024-1026)GAC>AAC	p.D342N		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	342	Helical; Name=7; (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GACCACCTTCGACGTCTTCGT	0.597													A	9784677	G	A	9784677	3	1	37	1	0	0	0	0	1	0	0	0	4760	1058	37	1	1026	1	DRD5	4	9784677	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2859160	9784677	181369599	259	34324											
HS3ST1	9957	broad.mit.edu	37	chr4	11401356	11401356	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgtaatgctcctcccAgtcgaagaagtggacctcgt	12	11	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:11401356A>G	uc003gmq.2	-	2	597	c.274T>C	c.(274-276)TGG>CGG	p.W92R		NM_005114	NP_005105	O14792	HS3S1_HUMAN	heparan sulfate D-glucosaminyl	92						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			skin(1)	1						TGCTCCTCCCAGTCGAAGAAG	0.647													G	11401356	A	G	11401356	3	3	37	1	0	0	0	0	1	0	0	0	7363	188	7	3	653	3	HS3ST1	4	11401356	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	1616679	11401356	179752920	260	34325											
C1QTNF7	114905	broad.mit.edu	37	chr4	15437604	15437604	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtgaaaagggaactgcAggtaatgaatgagaagttgc	14	3	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:15437604A>G	uc011bxb.1	+	2	464	c.237A>G	c.(235-237)GCA>GCG	p.A79A	C1QTNF7_uc003gno.2_Silent_p.A86A|C1QTNF7_uc003gnp.2_Silent_p.A79A	NM_001135171	NP_001128643	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	79	Collagen-like.					collagen					0						AGGGAACTGCAGGTAATGAAT	0.478													G	15437604	A	G	15437604	2	3	37	1	0	0	0	0	0	0	0	1	1968	202	7	3		3	C1QTNF7	4	15437604	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	4036248	15437604	175716672	261	34326											
SLIT2	9353	broad.mit.edu	37	chr4	20599972	20599972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aactctatcgggggcgtgttCgtgccagctatgacaccggc	13	12	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:20599972C>T	uc003gpr.1	+	33	3850	c.3646C>T	c.(3646-3648)CGT>TGT	p.R1216C	SLIT2_uc003gps.1_Missense_Mutation_p.R1208C	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1216	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						GGGGCGTGTTCGTGCCAGCTA	0.463													T	20599972	C	T	20599972	3	4	37	1	0	0	0	0	1	0	0	0	14740	884	31	1	3776	1	SLIT2	4	20599972	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	5162368	20599972	170554304	262	34327											
PACRGL	133015	broad.mit.edu	37	chr4	20714531	20714531	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacctagactgattcctgtgCtaaaggcagctctggtatgt	10	9	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:20714531C>A	uc010iek.2	+	6	878	c.487C>A	c.(487-489)CTA>ATA	p.L163I	PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Missense_Mutation_p.L211I|PACRGL_uc003gpz.2_Missense_Mutation_p.L163I|PACRGL_uc011bxm.1_Missense_Mutation_p.L110I|PACRGL_uc003gqa.2_Intron|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Missense_Mutation_p.L163I|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Intron|PACRGL_uc003gpy.2_Missense_Mutation_p.L110I	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like isoform 1	163							binding				0						GATTCCTGTGCTAAAGGCAGC	0.333													A	20714531	C	A	20714531	3	1	37	1	0	0	0	0	1	0	0	0	11371	796	28	5	505	5	PACRGL	4	20714531	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	114559	20714531	170439745	263	34328											
PI4K2B	55300	broad.mit.edu	37	chr4	25278792	25278792	+	Frame_Shift_Del	DEL	T	T	-													ctgtcaattgcaggaagccaTttttttcctcctggtagtaa							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:25278791_25278791AT>A	uc003grk.2	+	9	1561	c.1428_1428AT>A	c.(1426-1428)ccafs	p.P476fs	PI4K2B_uc011bxs.2_Frame_Shift_Del_p.P380fs	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 beta (PI4K2B), mRNA.	476						cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				GCAGGAAGCCATTTTTTTCCT	0.388													-	25278792	T	-	25278792	7	5	37	1	0	1	0	1	0	0	0	0	11872	1493	52	0	1467	0	PI4K2B	4	25278792	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	4564261	25278792	165875484	264	34329											
TBC1D1	23216	broad.mit.edu	37	chr4	38016279	38016279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcgcacaagaaggctccGccggccctgatcgacgagtg	15	13	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:38016279G>A	uc003gtb.2	+	3	910	c.567G>A	c.(565-567)CCG>CCA	p.P189P	TBC1D1_uc011byd.1_Silent_p.P189P|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Silent_p.P60P	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	189						nucleus	Rab GTPase activator activity			ovary(1)	1						AGAAGGCTCCGCCGGCCCTGA	0.667													A	38016279	G	A	38016279	2	1	37	1	0	0	0	0	0	0	0	1	15594	1074	38	1		1	TBC1D1	4	38016279	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	12737487	38016279	153137997	265	34330											
KLF3	51274	broad.mit.edu	37	chr4	38698768	38698768	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcggtctgatgaactaAcaagacatttccgaaaacat	7	9	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:38698768A>G	uc003gth.3	+	6	1254	c.922A>G	c.(922-924)ACA>GCA	p.T308A		NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	308	C2H2-type 2.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						TGATGAACTAACAAGACATTT	0.443													G	38698768	A	G	38698768	3	3	37	1	0	0	0	0	1	0	0	0	8347	43	2	3	940	3	KLF3	4	38698768	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	682489	38698768	152455508	266	34331											
LIAS	11019	broad.mit.edu	37	chr4	39462409	39462409	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cataattaactctttctttaGgtatttgggagatatttttg	7	4	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:39462409G>T	uc003guf.2	+	2	119	c.46_splice	c.e2-1	p.V16_splice	RPL9_uc003gub.2_5'Flank|RPL9_uc003guc.2_5'Flank|RPL9_uc011byk.1_5'Flank|RPL9_uc011byl.1_5'Flank|RPL9_uc003gud.1_5'Flank|LIAS_uc003gue.3_Splice_Site_p.V16_splice|LIAS_uc011bym.1_Splice_Site_p.V16_splice|LIAS_uc003gug.2_Splice_Site_p.V16_splice|LIAS_uc003guh.2_Splice_Site_p.V16_splice	NM_006859	NP_006850	O43766	LIAS_HUMAN	lipoic acid synthetase isoform 1 precursor						inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding				0					Lipoic Acid(DB00166)	TCTTTCTTTAGGTATTTGGGA	0.373													T	39462409	G	T	39462409	5	4	37	1	0	0	0	0	0	0	1	0	8778	1014	35	5	51	5	LIAS	4	39462409	Splice_Site	SNP	G	TCGA-BR-6566-01A-11D-1800-08	763641	39462409	151691867	267	34332											
NSUN7	79730	broad.mit.edu	37	chr4	40752837	40752837	+	Frame_Shift_Del	DEL	C	C	-													tgcccgaaaaaacgggctatCcggactccgtttatgtcatg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:40752836_40752836TC>T	uc003gvj.4	+	1	621	c.126_126TC>T	c.(124-126)tatfs	p.Y42fs	NSUN7_uc003gvh.2_Frame_Shift_Del_p.Y42fs|NSUN7_uc003gvi.4_Frame_Shift_Del_p.Y42fs	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AAACGGGCTATCCGGACTCCG	0.493													-	40752837	C	-	40752837	7	5	37	1	0	1	0	1	0	0	0	0	10683	855	30	0	129	0	NSUN7	4	40752837	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	1290428	40752837	150401439	268	34333											
CNGA1	1259	broad.mit.edu	37	chr4	47939078	47939078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcacaatcagcaaaaatgCgtaccttttttaatgtgtct	5	9	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:47939078C>T	uc003gxt.3	-	11	1699	c.1433G>A	c.(1432-1434)CGC>CAC	p.R478H	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.R547H	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	478	Extracellular (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2						AGCAAAAATGCGTACCTTTTT	0.378													T	47939078	C	T	47939078	3	4	37	1	0	0	0	0	1	0	0	0	3596	768	27	1	643	1	CNGA1	4	47939078	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	7186241	47939078	143215198	269	34334											
PDGFRA	5156	broad.mit.edu	37	chr4	54248502	54248502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaatggtgtaccaaaaccGgtaacataaggctttgaaat	9	6	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:54248502G>A	uc003haa.2	+	4	414	c.228G>A	c.(226-228)CCG>CCA	p.P76P	FIP1L1_uc003gzx.3_Silent_p.P61P|FIP1L1_uc011bzt.1_Silent_p.P76P|FIP1L1_uc003gzy.2_Silent_p.P76P|FIP1L1_uc011bzu.1_Silent_p.P61P|FIP1L1_uc003gzz.2_Silent_p.P61P|FIP1L1_uc003hab.2_Silent_p.P64P|FIP1L1_uc003hac.2_5'UTR	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TACCAAAACCGGTAACATAAG	0.348			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			A	54248502	G	A	54248502	2	1	37	1	0	0	0	0	0	0	0	1	11661	1130	39	1		1	PDGFRA	4	54248502	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	6309424	54248502	136905774	270	34335											
STAP1	26228	broad.mit.edu	37	chr4	68459005	68459005	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaaccttttcagtgtcAttgattattttgtgaaggag	8	7	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:68459005A>G	uc003hde.3	+	8	839	c.757A>G	c.(757-759)ATT>GTT	p.I253V	STAP1_uc003hdf.2_Missense_Mutation_p.I253V	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	253	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm					0						TTTCAGTGTCATTGATTATTT	0.363													G	68459005	A	G	68459005	3	3	37	1	0	0	0	0	1	0	0	0	15251	217	8	3	787	3	STAP1	4	68459005	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	14210503	68459005	122695271	271	34336											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68691524	68691524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggctccattataactatGtggtgcattacatacatcat	7	8	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:68691524G>A	uc003hdq.2	-	9	1086	c.1021C>T	c.(1021-1023)CAT>TAT	p.H341Y	LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc003hdp.2_Missense_Mutation_p.H122Y|TMPRSS11D_uc011caj.1_Missense_Mutation_p.H224Y	NM_004262	NP_004253	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	341	Peptidase S1.|Extracellular (Potential).				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						TTATAACTATGTGGTGCATTA	0.433													A	68691524	G	A	68691524	3	1	37	1	0	0	0	0	1	0	0	0	16238	1377	48	4	243	4	TMPRSS11D	4	68691524	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	232519	68691524	122462752	272	34337											
CCDC158	339965	broad.mit.edu	37	chr4	77283362	77283362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgatgtccttcactgcaCggagccgctcagagcctgca	11	13	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:77283362C>T	uc003hkb.3	-	12	2090	c.1937G>A	c.(1936-1938)CGT>CAT	p.R646H		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	646	Potential.									skin(3)|ovary(2)|pancreas(1)	6						CTTCACTGCACGGAGCCGCTC	0.438													T	77283362	C	T	77283362	3	4	37	1	0	0	0	0	1	0	0	0	2790	536	19	1	1456	1	CCDC158	4	77283362	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	8591838	77283362	113870914	273	34338											
PRKG2	5593	broad.mit.edu	37	chr4	82063969	82063969	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctcaactcttccgaacccAccaacgcccagtgttgcaat	6	16	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:82063969A>G	uc003hmh.2	-	10	1400	c.1386T>C	c.(1384-1386)GGT>GGC	p.G462G	PRKG2_uc011ccf.1_Silent_p.G42G|PRKG2_uc011ccg.1_Silent_p.G42G|PRKG2_uc011cch.1_Intron	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	462	Protein kinase.|ATP (By similarity).				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						TTCCGAACCCACCAACGCCCA	0.438													G	82063969	A	G	82063969	2	3	37	1	0	0	0	0	0	0	0	1	12523	146	6	3		3	PRKG2	4	82063969	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	4780607	82063969	109090307	274	34339											
CDS1	1040	broad.mit.edu	37	chr4	85525440	85525440	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagatttggattccagaacAgattctgatattccggaaat	10	6	1	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:85525440A>C	uc011ccv.1	+	2	660	c.162A>C	c.(160-162)ACA>ACC	p.T54T		NM_001263	NP_001254	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase 1	54					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			large_intestine(2)|ovary(1)|breast(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		ATTCCAGAACAGATTCTGATA	0.353													C	85525440	A	C	85525440	2	2	37	1	0	0	0	0	0	0	0	1	3177	175	7	5		5	CDS1	4	85525440	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	3461471	85525440	105628836	275	34340											
WDFY3	23001	broad.mit.edu	37	chr4	85605111	85605111	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacccgaaccactccatcTgagtgtcctgtcactatgac	6	15	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:85605111T>C	uc003hpd.2	-	63	10119	c.9711A>G	c.(9709-9711)TCA>TCG	p.S3237S	WDFY3_uc003hpc.2_5'Flank	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	3237	WD 4.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCACTCCATCTGAGTGTCCTG	0.453													C	85605111	T	C	85605111	2	2	37	1	0	0	0	0	0	0	0	1	17267	1567	55	3		3	WDFY3	4	85605111	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	79671	85605111	105549165	276	34341											
WDFY3	23001	broad.mit.edu	37	chr4	85636503	85636503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagcaaggaggtaattccGtccatctccagagaaaactt	8	9	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:85636503G>A	uc003hpd.2	-	50	8317	c.7909C>T	c.(7909-7911)CGG>TGG	p.R2637W	WDFY3_uc003hpe.1_Missense_Mutation_p.R248W	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2637						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGGTAATTCCGTCCATCTCCA	0.333													A	85636503	G	A	85636503	3	1	37	1	0	0	0	0	1	0	0	0	17267	1144	40	1	2747	1	WDFY3	4	85636503	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	31392	85636503	105517773	277	34342											
AFF1	4299	broad.mit.edu	37	chr4	88053502	88053502	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagtattctcgtactcttAataaacacttcgagagttct	5	8	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:88053502A>G	uc003hqj.3	+	18	3639	c.3232A>G	c.(3232-3234)AAT>GAT	p.N1078D	AFF1_uc011ccz.1_Missense_Mutation_p.N1085D|AFF1_uc003hqk.3_Missense_Mutation_p.N1078D|AFF1_uc011cda.1_Missense_Mutation_p.N716D	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1078						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCGTACTCTTAATAAACACTT	0.383													G	88053502	A	G	88053502	3	3	37	1	0	0	0	0	1	0	0	0	356	362	13	3	3344	3	AFF1	4	88053502	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	2416999	88053502	103100774	278	34343											
SNCA	6622	broad.mit.edu	37	chr4	90743423	90743423	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caactggtcctttttgacaaAgccagtggctgctgcaatgc	10	11	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:90743423A>C	uc003hsq.2	-	4	539	c.280T>G	c.(280-282)TTT>GTT	p.F94V	SNCA_uc010ikt.2_Missense_Mutation_p.F80V|SNCA_uc003hso.2_Missense_Mutation_p.F94V|SNCA_uc003hsp.2_Missense_Mutation_p.F94V|SNCA_uc003hsr.2_Missense_Mutation_p.F94V	NM_001146054	NP_001139526	P37840	SYUA_HUMAN	alpha-synuclein isoform NACP140	94				Missing: Reduces polymerization into amyloid fibrils.	activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	Melatonin(DB01065)	TTTTTGACAAAGCCAGTGGCT	0.502													C	90743423	A	C	90743423	3	2	37	1	0	0	0	0	1	0	0	0	14840	72	3	5	154	5	SNCA	4	90743423	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	2689921	90743423	100410853	279	34344											
UNC5C	8633	broad.mit.edu	37	chr4	96140152	96140152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caataaggtgacctcccagcGagttgaagctgccaaatgcg	11	11	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:96140152G>A	uc003htp.1	-	9	1767	c.1613C>T	c.(1612-1614)TCG>TTG	p.S538L	UNC5C_uc010ilc.1_Missense_Mutation_p.S557L|UNC5C_uc003htq.2_Missense_Mutation_p.S557L	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	538	Cytoplasmic (Potential).|ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ACCTCCCAGCGAGTTGAAGCT	0.443													A	96140152	G	A	96140152	3	1	37	1	0	0	0	0	1	0	0	0	16990	1059	37	1	1214	1	UNC5C	4	96140152	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	5396729	96140152	95014124	280	34345											
MANBA	4126	broad.mit.edu	37	chr4	103557139	103557139	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattctgagcaaagtaatgAagcattttccactttcctcc	5	10	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:103557139A>G	uc003hwg.2	-	15	2140	c.2040T>C	c.(2038-2040)CTT>CTC	p.L680L	MANBA_uc011ces.1_Silent_p.L623L	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor	680					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CAAAGTAATGAAGCATTTTCC	0.438													G	103557139	A	G	103557139	2	3	37	1	0	0	0	0	0	0	0	1	9219	233	9	3		3	MANBA	4	103557139	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	7416987	103557139	87597137	281	34346											
COL25A1	84570	broad.mit.edu	37	chr4	109740459	109740459	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctggcctggctccccTttttcccccttaacgccacg	8	19	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:109740459T>C	uc003hze.1	-	35	2403	c.1872A>G	c.(1870-1872)AAA>AAG	p.K624K	COL25A1_uc003hzd.2_Intron	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	624	Extracellular (Potential).|Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTGGCTCCCCTTTTTCCCCCT	0.453													C	109740459	T	C	109740459	2	2	37	1	0	0	0	0	0	0	0	1	3684	1606	56	3		3	COL25A1	4	109740459	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	6183320	109740459	81413817	282	34347											
AP1AR	55435	broad.mit.edu	37	chr4	113189433	113189433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgattccaatgggctggaGtgggaaaatgattttgttag	14	3	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:113189433G>A	uc003iaj.3	+	10	1130	c.777G>A	c.(775-777)GAG>GAA	p.E259E	AP1AR_uc003iak.3_Silent_p.E226E	NM_018569	NP_061039	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated	259					protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle					0						ATGGGCTGGAGTGGGAAAATG	0.403													A	113189433	G	A	113189433	2	1	37	1	0	0	0	0	0	0	0	1	730	1020	36	4		4	AP1AR	4	113189433	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3448974	113189433	77964843	283	34348											
ANK2	287	broad.mit.edu	37	chr4	114277090	114277090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaaagactctctggaagCcagccctgtgctagaagata	9	12	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:114277090C>T	uc003ibe.3	+	38	7416	c.7316C>T	c.(7315-7317)GCC>GTC	p.A2439V	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.A2454V	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2406					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)		TCTCTGGAAGCCAGCCCTGTG	0.527													T	114277090	C	T	114277090	3	4	37	1	0	0	0	0	1	0	0	0	621	739	26	2	7531	2	ANK2	4	114277090	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1087657	114277090	76877186	284	34349											
ANK2	287	broad.mit.edu	37	chr4	114290957	114290957	+	Frame_Shift_Del	DEL	A	A	-													cgatgaagatgcagcttttgAaaaggtaagacattcctctc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:114290956_114290956GA>G	uc003ibe.4	+	42	11705	c.11605_11605GA>G	c.(11605-11607)gaafs	p.E3869fs	ANK2_uc003ibd.4_Frame_Shift_Del_p.E1775fs|ANK2_uc003ibf.4_Frame_Shift_Del_p.E1784fs|ANK2_uc011cgc.2_Frame_Shift_Del_p.E960fs|ANK2_uc003ibg.4_Frame_Shift_Del_p.E768fs|ANK2_uc003ibh.4_Frame_Shift_Del_p.E458fs	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3836					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.E3869K(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGCAGCTTTTGAAAAGGTAAG	0.448													-	114290957	A	-	114290957	7	5	37	1	0	1	0	1	0	0	0	0	621	246	9	0	11841	0	ANK2	4	114290957	Frame_Shift_Del	DEL	A	TCGA-BR-6566-01A-11D-1800-08	13867	114290957	76863319	285	34350											
NDST3	9348	broad.mit.edu	37	chr4	119154231	119154231	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttagtaactcccccagcccAaaaacctttgaggaggtaca	7	13	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:119154231A>C	uc003ibx.2	+	9	2287	c.1884A>C	c.(1882-1884)CCA>CCC	p.P628P	NDST3_uc011cgf.1_Silent_p.P547P	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	628	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						CCCCCAGCCCAAAAACCTTTG	0.358													C	119154231	A	C	119154231	2	2	37	1	0	0	0	0	0	0	0	1	10257	117	5	5		5	NDST3	4	119154231	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	4863274	119154231	72000045	286	34351											
PRSS12	8492	broad.mit.edu	37	chr4	119204068	119204068	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggtaaacaggctggcaaAacatggctgctgaatctggc	13	8	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:119204068A>C	uc003ica.1	-	12	2285	c.2238T>G	c.(2236-2238)GTT>GTG	p.V746V		NM_003619	NP_003610	P56730	NETR_HUMAN	neurotrypsin precursor	746	Peptidase S1.					membrane	scavenger receptor activity			skin(1)	1						AGGCTGGCAAAACATGGCTGC	0.473													C	119204068	A	C	119204068	2	2	37	1	0	0	0	0	0	0	0	1	12615	1	1	5		5	PRSS12	4	119204068	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	49837	119204068	71950208	287	34352											
TNIP3	79931	broad.mit.edu	37	chr4	122075764	122075764	+	Frame_Shift_Del	DEL	T	T	-													tttccttgttcgcaagagtaTtttttccctttaaaagttta							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:122075763_122075763AT>A	uc021xrj.1	-	7	745	c.666_666AT>T	c.(664-666)aatfs	p.N222fs	TNIP3_uc010ing.3_Frame_Shift_Del_p.N145fs|TNIP3_uc011cgj.2_Frame_Shift_Del_p.N215fs|TNIP3_uc010ini.3_Frame_Shift_Del_p.N145fs	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	145										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TCGCAAGAGTATTTTTTCCCT	0.338													-	122075764	T	-	122075764	7	5	37	1	0	1	0	1	0	0	0	0	16313	1493	52	0	571	0	TNIP3	4	122075764	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	2871696	122075764	69078512	288	34353											
KIAA1109	84162	broad.mit.edu	37	chr4	123120577	123120577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactaccagcatgcaatatcGgacccttttagaagcagaaa	7	11	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:123120577G>A	uc003ieh.2	+	12	1397	c.1352G>A	c.(1351-1353)CGG>CAG	p.R451Q	KIAA1109_uc003iei.1_Missense_Mutation_p.R205Q|KIAA1109_uc010ins.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	451					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ATGCAATATCGGACCCTTTTA	0.318													A	123120577	G	A	123120577	3	1	37	1	0	0	0	0	1	0	0	0	8208	1116	39	1	1398	1	KIAA1109	4	123120577	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1044813	123120577	68033699	289	34354											
KIAA1109	84162	broad.mit.edu	37	chr4	123159371	123159371	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catagttcatcctcttcctcAgaagagaacagtagttctag	7	10	4	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:123159371A>G	uc003ieh.2	+	26	3744	c.3699A>G	c.(3697-3699)TCA>TCG	p.S1233S	KIAA1109_uc003iei.1_Silent_p.S986S|KIAA1109_uc010ins.1_Silent_p.S576S|KIAA1109_uc003iek.2_5'Flank	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1233	Poly-Ser.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CCTCTTCCTCAGAAGAGAACA	0.408													G	123159371	A	G	123159371	2	3	37	1	0	0	0	0	0	0	0	1	8208	175	7	3		3	KIAA1109	4	123159371	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	38794	123159371	67994905	290	34355											
FAT4	79633	broad.mit.edu	37	chr4	126238469	126238469	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccttccaaatggaccctgaGacgggacttatcacggtgcg	11	13	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:126238469G>T	uc003ifj.3	+	1	903	c.903G>T	c.(901-903)GAG>GAT	p.E301D		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	301	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGGACCCTGAGACGGGACTTA	0.667											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	126238469	G	T	126238469	3	4	37	1	0	0	0	0	1	0	0	0	5692	933	33	5	905	5	FAT4	4	126238469	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3079098	126238469	64915807	291	34356											
FAT4	79633	broad.mit.edu	37	chr4	126320048	126320048	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctctaagattatgcagcTgacagccatggatgctgatg	12	8	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:126320048T>C	uc003ifj.3	+	2	5285	c.5285T>C	c.(5284-5286)CTG>CCG	p.L1762P	FAT4_uc011cgp.1_Missense_Mutation_p.L60P	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1762	Cadherin 17.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ATTATGCAGCTGACAGCCATG	0.423													C	126320048	T	C	126320048	3	2	37	1	0	0	0	0	1	0	0	0	5692	1580	55	3	5291	3	FAT4	4	126320048	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	81579	126320048	64834228	292	34357											
FAT4	79633	broad.mit.edu	37	chr4	126329902	126329902	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctttaatggagaatctacCtgtgggatctactgttcttg	9	7	4	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:126329902C>A	uc003ifj.3	+	4	5873	c.5873C>A	c.(5872-5874)CCT>CAT	p.P1958H	FAT4_uc011cgp.1_Missense_Mutation_p.P256H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1958	Cadherin 19.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GAGAATCTACCTGTGGGATCT	0.289													A	126329902	C	A	126329902	3	1	37	1	0	0	0	0	1	0	0	0	5692	681	24	5	5887	5	FAT4	4	126329902	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	9854	126329902	64824374	293	34358											
FAT4	79633	broad.mit.edu	37	chr4	126371861	126371861	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacaaatgctgtgattgcGtatactgtacagtcatctga	10	7	2	2	rs142877205	by1000genomes	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:126371861G>A	uc003ifj.3	+	9	9690	c.9690G>A	c.(9688-9690)GCG>GCA	p.A3230A	FAT4_uc011cgp.1_Silent_p.A1528A|FAT4_uc003ifi.1_Silent_p.A708A	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3230	Cadherin 31.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CTGTGATTGCGTATACTGTAC	0.428													A	126371861	G	A	126371861	2	1	37	1	0	0	0	0	0	0	0	1	5692	1132	40	1		1	FAT4	4	126371861	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	41959	126371861	64782415	294	34359											
FAT4	79633	broad.mit.edu	37	chr4	126411566	126411567	+	Frame_Shift_Ins	INS	-	-	G													atcctgtgtaaccagtgcagINSggggaagaaggccaaaaatc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:126411565_126411566A>AG	uc003ifj.4	+	16	13588_13589	c.13588_13589A>AG	c.(13588-13590)aggfs	p.R4530fs	FAT4_uc011cgp.2_Frame_Shift_Ins_p.R2771fs|FAT4_uc003ifi.1_Frame_Shift_Ins_p.R2007fs	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4530					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAACCAGTGCAGGGGGAAGAAG	0.525													G	126411567	-	G	126411566	7	5	37	1	0	1	1	0	0	0	0	0	5692	1000	35	0	13655	0	FAT4	4	126411566	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	39705	126411566	64742710	295	34360											
HSPA4L	22824	broad.mit.edu	37	chr4	128748490	128748490	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctattcaaatgaagtacAtggagcatgaagagagacca	10	7	1	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:128748490A>G	uc003ifm.2	+	17	2330	c.2077A>G	c.(2077-2079)ATG>GTG	p.M693V	HSPA4L_uc011cgr.1_Missense_Mutation_p.M660V	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	693					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						AATGAAGTACATGGAGCATGA	0.323													G	128748490	A	G	128748490	3	3	37	1	0	0	0	0	1	0	0	0	7413	217	8	3	2143	3	HSPA4L	4	128748490	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	2336924	128748490	62405786	296	34361											
PHF17	79960	broad.mit.edu	37	chr4	129783281	129783281	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaacaagcccctgatcacCccaaagaaagatgaagagga	8	11	2	5			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:129783281C>A	uc003igk.2	+	9	1684	c.1404C>A	c.(1402-1404)ACC>ACA	p.T468T	PHF17_uc003igj.2_Silent_p.T468T|PHF17_uc003igl.2_Silent_p.T456T|PHF17_uc011cgy.1_Silent_p.T468T|PHF17_uc003igm.2_Silent_p.T468T	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	PHD finger protein 17 long isoform	468					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding				0						CCCTGATCACCCCAAAGAAAG	0.537													A	129783281	C	A	129783281	2	1	37	1	0	0	0	0	0	0	0	1	11828	610	22	5		5	PHF17	4	129783281	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1034791	129783281	61370995	297	34362											
CCRN4L	25819	broad.mit.edu	37	chr4	139966465	139966465	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaggcacaccctggattAcatctggtattctaaacatg	9	10	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:139966465A>G	uc003ihl.2	+	3	1326	c.1133A>G	c.(1132-1134)TAC>TGC	p.Y378C		NM_012118	NP_036250	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like	378					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1	all_hematologic(180;0.162)					ACCCTGGATTACATCTGGTAT	0.498													G	139966465	A	G	139966465	3	3	37	1	0	0	0	0	1	0	0	0	2951	391	14	3	1143	3	CCRN4L	4	139966465	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	10183184	139966465	51187811	298	34363											
HHIP	64399	broad.mit.edu	37	chr4	145629358	145629358	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctacggctggatgtggacaCagacatgtgcaacgtgcctt	13	10	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:145629358C>G	uc003ijs.1	+	7	1851	c.1196C>G	c.(1195-1197)ACA>AGA	p.T399R		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	399						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GATGTGGACACAGACATGTGC	0.463													G	145629358	C	G	145629358	3	3	37	1	0	0	0	0	1	0	0	0	7092	478	17	5	1222	5	HHIP	4	145629358	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	5662893	145629358	45524918	299	34364											
ABCE1	6059	broad.mit.edu	37	chr4	146041224	146041224	+	Frame_Shift_Del	DEL	A	A	-													ataaatatccaggaatgaagAaaaaaatgggagaatttgag							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:146041224delA	uc003ijx.2	+	11	1503	c.1063delA	c.(1063-1065)AAAfs	p.K355fs	ABCE1_uc003ijy.2_Frame_Shift_Del_p.K355fs|ABCE1_uc010iot.2_RNA	NM_001040876	NP_001035809	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E, member 1	355	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			skin(1)	1	all_hematologic(180;0.151)					AGGAATGAAGAAAAAAATGGG	0.353													-	146041224	A	-	146041224	7	5	37	1	0	1	0	1	0	0	0	0	64	247	9	0	1101	0	ABCE1	4	146041224	Frame_Shift_Del	DEL	A	TCGA-BR-6566-01A-11D-1800-08	411866	146041224	45113052	300	34365											
NR3C2	4306	broad.mit.edu	37	chr4	149035413	149035413	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgaggccatcctttggaaCtgtgttaaggaaaacagaca	10	7	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:149035413C>A	uc003ilj.3	-	8	2976	c.2642_splice	c.e8-1	p.I881_splice	NR3C2_uc003ilk.3_Splice_Site_p.I764_splice|NR3C2_uc010iph.2_Splice_Site	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TCCTTTGGAACTGTGTTAAGG	0.373													A	149035413	C	A	149035413	5	1	37	1	0	0	0	0	0	0	1	0	10631	579	20	5	321	5	NR3C2	4	149035413	Splice_Site	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2994189	149035413	42118863	301	34366											
TKTL2	84076	broad.mit.edu	37	chr4	164394017	164394017	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtcttccacaggcgatttTggtatgagattctcattggt	11	7	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:164394017T>C	uc003iqp.3	-	1	1031	c.870A>G	c.(868-870)CCA>CCG	p.P290P		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	290						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAGGCGATTTTGGTATGAGAT	0.284													C	164394017	T	C	164394017	2	2	37	1	0	0	0	0	0	0	0	1	15933	1799	63	3		3	TKTL2	4	164394017	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	15358604	164394017	26760259	302	34367											
ADAM29	11086	broad.mit.edu	37	chr4	175898280	175898280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccgtgttggtcactgtgGtatcaaaaatgctacatata	9	7	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:175898280G>A	uc003iuc.2	+	5	2274	c.1604G>A	c.(1603-1605)GGT>GAT	p.G535D	ADAM29_uc003iud.2_Missense_Mutation_p.G535D|ADAM29_uc010irr.2_Missense_Mutation_p.G535D|ADAM29_uc011cki.1_Missense_Mutation_p.G535D	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	535	Cys-rich.|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)		GGTCACTGTGGTATCAAAAAT	0.393													A	175898280	G	A	175898280	3	1	37	1	0	0	0	0	1	0	0	0	247	1261	44	4	1606	4	ADAM29	4	175898280	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	11504263	175898280	15255996	303	34368											
NEIL3	55247	broad.mit.edu	37	chr4	178283558	178283558	+	Frame_Shift_Del	DEL	A	A	-													tgtgtgtcctcttgggaaggAaaaacaatgcaattttttcc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:178283557_178283557GA>G	uc003iut.2	+	9	1867	c.1750_1750GA>G	c.(1750-1752)gaafs	p.E584fs		NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	584					base-excision repair|nucleotide-excision repair	nucleus	DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TCTTGGGAAGGAAAAACAATG	0.393								Base excision repair (BER), DNA glycosylases					-	178283558	A	-	178283558	7	5	37	1	0	1	0	1	0	0	0	0	10320	246	9	0	1789	0	NEIL3	4	178283558	Frame_Shift_Del	DEL	A	TCGA-BR-6566-01A-11D-1800-08	2385278	178283558	12870718	304	34369											
ODZ3	55714	broad.mit.edu	37	chr4	183658156	183658156	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcctgcctcaccaaacTtggcctatactttcatatgg	7	12	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:183658156T>G	uc003ivd.1	+	16	3200	c.3163T>G	c.(3163-3165)TTG>GTG	p.L1055V	ODZ3_uc003ive.1_Missense_Mutation_p.L461V	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1055	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CTCACCAAACTTGGCCTATAC	0.373													G	183658156	T	G	183658156	3	3	37	1	0	0	0	0	1	0	0	0	10836	1606	56	5	3225	5	ODZ3	4	183658156	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	5374598	183658156	7496120	305	34370											
MTNR1A	4543	broad.mit.edu	37	chr4	187455686	187455686	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccaccaggtctgccacCgctaagctcaccacaaagat	7	17	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:187455686C>T	uc003izd.1	-	2	228	c.210G>A	c.(208-210)GCG>GCA	p.A70A		NM_005958	NP_005949	P48039	MTR1A_HUMAN	melatonin receptor 1A	70	Helical; Name=2; (Potential).				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GGTCTGCCACCGCTAAGCTCA	0.458													T	187455686	C	T	187455686	2	4	37	1	0	0	0	0	0	0	0	1	9951	639	23	1		1	MTNR1A	4	187455686	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3797530	187455686	3698590	306	34371											
SLC12A7	10723	broad.mit.edu	37	chr5	1052501	1052501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagatggtgatcacctcccGgccgccacccctgaccagga	11	16	1	3	rs145103734		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:1052501G>A	uc003jbu.2	-	24	3292	c.3226C>T	c.(3226-3228)CGG>TGG	p.R1076W		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	1076	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ATCACCTCCCGGCCGCCACCC	0.607													A	1052501	G	A	1052501	3	1	37	1	0	0	0	0	1	0	0	0	14388	1115	39	1	29	1	SLC12A7	5	1052501	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08		1052501	179862759	307	34372											
SLC12A7	10723	broad.mit.edu	37	chr5	1081737	1081737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccagcagggtgaaggaggCcgcgatgtcggtgagcacgt	17	9	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:1081737C>T	uc003jbu.2	-	9	1318	c.1252G>A	c.(1252-1254)GCC>ACC	p.A418T		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	418	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GTGAAGGAGGCCGCGATGTCG	0.552													T	1081737	C	T	1081737	3	4	37	1	0	0	0	0	1	0	0	0	14388	739	26	2	2063	2	SLC12A7	5	1081737	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	29236	1081737	179833523	308	34373											
SLC6A19	340024	broad.mit.edu	37	chr5	1212545	1212545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgctgtgcctggcctgCgcatggagcgtcctgtacat	13	12	0	0	rs149582176		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:1212545C>T	uc003jbw.3	+	4	665	c.609C>T	c.(607-609)TGC>TGT	p.C203C		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	203	Helical; Name=4; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCCTGGCCTGCGCATGGAGCG	0.642													T	1212545	C	T	1212545	2	4	37	1	0	0	0	0	0	0	0	1	14682	776	27	1		1	SLC6A19	5	1212545	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	130808	1212545	179702715	309	34374											
FASTKD3	79072	broad.mit.edu	37	chr5	7861317	7861317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtttaatagcttctttcCccagtaagtgtttgctattg	7	7	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:7861317C>T	uc003jeb.2	-	6	1966	c.1829G>A	c.(1828-1830)GGG>GAG	p.G610E	FASTKD3_uc011cmp.1_Missense_Mutation_p.G312E|FASTKD3_uc003jec.2_RNA	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	610	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4						AGCTTCTTTCCCCAGTAAGTG	0.323													T	7861317	C	T	7861317	3	4	37	1	0	0	0	0	1	0	0	0	5687	623	22	4	167	4	FASTKD3	5	7861317	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	6648772	7861317	173053943	310	34375											
FASTKD3	79072	broad.mit.edu	37	chr5	7868079	7868079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacaaccaagggcacagacGctccttgactaccttgtgaa	8	13	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:7868079G>A	uc003jeb.2	-	2	255	c.118C>T	c.(118-120)CGT>TGT	p.R40C	FASTKD3_uc011cmp.1_5'UTR|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	40					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4						GGGCACAGACGCTCCTTGACT	0.408													A	7868079	G	A	7868079	3	1	37	1	0	0	0	0	1	0	0	0	5687	1087	38	1	1894	1	FASTKD3	5	7868079	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	6762	7868079	173047181	311	34376											
SEMA5A	9037	broad.mit.edu	37	chr5	9054362	9054362	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggaccagcaagaccacacGccatccactgtgaagaaaca	10	13	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:9054362G>A	uc003jek.2	-	19	3238	c.2526C>T	c.(2524-2526)GGC>GGT	p.G842G		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	842	TSP type-1 6.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						AAGACCACACGCCATCCACTG	0.493													A	9054362	G	A	9054362	2	1	37	1	0	0	0	0	0	0	0	1	14037	1074	38	1		1	SEMA5A	5	9054362	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1186283	9054362	171860898	312	34377											
DNAH5	1767	broad.mit.edu	37	chr5	13700841	13700841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgttcctcttgtcccagCcagcaccttcaagatataag	6	13	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:13700841C>T	uc003jfd.2	-	78	13673	c.13631G>A	c.(13630-13632)GGC>GAC	p.G4544D	DNAH5_uc003jfc.2_Missense_Mutation_p.G712D	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4544					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)					CTTGTCCCAGCCAGCACCTTC	0.428									Kartagener_syndrome				T	13700841	C	T	13700841	3	4	37	1	0	0	0	0	1	0	0	0	4604	739	26	2	251	2	DNAH5	5	13700841	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	4646479	13700841	167214419	313	34378											
PTGER4	5734	broad.mit.edu	37	chr5	40692308	40692308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagacaccacctcactgaGgactttgcgaatatcagaga	10	10	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:40692308G>A	uc003jlz.2	+	3	1887	c.1295G>A	c.(1294-1296)AGG>AAG	p.R432K		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	432	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			lung(2)	2						ACCTCACTGAGGACTTTGCGA	0.577													A	40692308	G	A	40692308	3	1	37	1	0	0	0	0	1	0	0	0	12745	1000	35	4	1301	4	PTGER4	5	40692308	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	26991467	40692308	140222952	314	34379											
MIER3	166968	broad.mit.edu	37	chr5	56219756	56219756	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttacgtaactccagggtgAtggttatatctttttttccc	7	9	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:56219756A>G	uc003jrd.1	-	11	1063	c.1038T>C	c.(1036-1038)CAT>CAC	p.H346H	MIER3_uc003jqz.1_Silent_p.H283H|MIER3_uc003jra.1_Silent_p.H345H|MIER3_uc003jrb.1_Silent_p.H170H|MIER3_uc003jrc.1_Silent_p.H351H	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		CTCCAGGGTGATGGTTATATC	0.368													G	56219756	A	G	56219756	2	3	37	1	0	0	0	0	0	0	0	1	9582	330	12	3		3	MIER3	5	56219756	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	15527448	56219756	124695504	315	34380											
CD180	4064	broad.mit.edu	37	chr5	66478959	66478959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttatgacttaaattaatgGtgctctgctgggacaagata	11	5	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:66478959G>A	uc003juy.2	-	3	1860	c.1712C>T	c.(1711-1713)ACC>ATC	p.T571I		NM_005582	NP_005573	Q99467	CD180_HUMAN	CD180 molecule precursor	571	Extracellular (Potential).				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			ovary(1)	1		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TAAATTAATGGTGCTCTGCTG	0.453													A	66478959	G	A	66478959	3	1	37	1	0	0	0	0	1	0	0	0	2972	1261	44	4	277	4	CD180	5	66478959	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	10259203	66478959	114436301	316	34381											
CD180	4064	broad.mit.edu	37	chr5	66480342	66480342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccatgaatatcaggggatttCcagttaacacaagtgtgctt	9	8	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:66480342C>T	uc003juy.2	-	3	477	c.329G>A	c.(328-330)GGA>GAA	p.G110E		NM_005582	NP_005573	Q99467	CD180_HUMAN	CD180 molecule precursor	110	LRR 3.|Extracellular (Potential).				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			ovary(1)	1		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CAGGGGATTTCCAGTTAACAC	0.368													T	66480342	C	T	66480342	3	4	37	1	0	0	0	0	1	0	0	0	2972	855	30	4	1660	4	CD180	5	66480342	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1383	66480342	114434918	317	34382											
RASA1	5921	broad.mit.edu	37	chr5	86672770	86672770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaagaccgaacactactgGccagcatcctactgaggatt	9	12	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:86672770G>A	uc003kiw.2	+	17	2375	c.2257G>A	c.(2257-2259)GCC>ACC	p.A753T	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.A576T|RASA1_uc011ctv.1_Missense_Mutation_p.A586T|RASA1_uc011ctw.1_Missense_Mutation_p.A587T|RASA1_uc010jaw.2_Missense_Mutation_p.A575T	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	753	Ras-GAP.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AACACTACTGGCCAGCATCCT	0.373													A	86672770	G	A	86672770	3	1	37	1	0	0	0	0	1	0	0	0	13060	1203	42	2	2335	2	RASA1	5	86672770	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	20192428	86672770	94242490	318	34383											
APC	324	broad.mit.edu	37	chr5	112178333	112178333	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattatctcaacttccaaggAcatcatcccctagtactgct	4	13	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:112178333A>G	uc010jby.2	+	16	7422	c.7042A>G	c.(7042-7044)ACA>GCA	p.T2348A	APC_uc011cvt.1_Missense_Mutation_p.T2330A|APC_uc003kpz.3_Missense_Mutation_p.T2348A|APC_uc003kpy.3_Missense_Mutation_p.T2348A|APC_uc010jbz.2_Missense_Mutation_p.T2065A|APC_uc010jca.2_Missense_Mutation_p.T1648A	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2348	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACTTCCAAGGACATCATCCCC	0.423		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			G	112178333	A	G	112178333	3	3	37	1	0	0	0	0	1	0	0	0	763	275	10	3	7100	3	APC	5	112178333	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	25505563	112178333	68736927	319	34384											
SRP19	6728	broad.mit.edu	37	chr5	112227455	112227455	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaacgtcggcaggaacTtgctcgactgagagactcag	12	9	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:112227455T>G	uc011cvv.1	+	4	449	c.194T>G	c.(193-195)CTT>CGT	p.L65R	SRP19_uc011cvu.1_Missense_Mutation_p.L50R|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron			P09132	SRP19_HUMAN	SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;	Error:Variant_position_missing_in_P09132_after_alignment					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		CGGCAGGAACTTGCTCGACTG	0.463													G	112227455	T	G	112227455	3	3	37	1	0	0	0	0	1	0	0	0	15153	1624	56	5		5	SRP19	5	112227455	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	49122	112227455	68687805	320	34385											
CDKL3	51265	broad.mit.edu	37	chr5	133644013	133644013	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagttttgtatctggagacaTaggatgaacattttcatttg	9	4	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:133644013T>C	uc003kzf.3	-	9	1299	c.1180A>G	c.(1180-1182)ATG>GTG	p.M394V	CDKL3_uc011cxm.1_Missense_Mutation_p.M201V|CDKL3_uc011cxn.1_RNA|CDKL3_uc010jdw.2_Missense_Mutation_p.M1V|CDKL3_uc011cxo.1_Missense_Mutation_p.M99V|CDKL3_uc011cxp.1_Missense_Mutation_p.M99V|CDKL3_uc011cxq.1_Missense_Mutation_p.M201V|CDKL3_uc003kzg.3_Missense_Mutation_p.M394V	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3 isoform 1	394						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTGGAGACATAGGATGAACA	0.393													C	133644013	T	C	133644013	3	2	37	1	0	0	0	0	1	0	0	0	3155	1406	49	3	622	3	CDKL3	5	133644013	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	21416558	133644013	47271247	321	34386											
PCDHA6	56142	broad.mit.edu	37	chr5	140209182	140209182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcggcgggtgggcgagcgCgcgttgtcgagctacatttc	18	10	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:140209182C>T	uc003lho.2	+	1	1533	c.1506C>T	c.(1504-1506)CGC>CGT	p.R502R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.R502R|PCDHA6_uc011dab.1_Silent_p.R502R	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	502	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGAGCGCGCGTTGTCGA	0.672													T	140209182	C	T	140209182	2	4	37	1	0	0	0	0	0	0	0	1	11528	755	27	1		1	PCDHA6	5	140209182	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	6565169	140209182	40706078	322	34387											
PCDHA7	56141	broad.mit.edu	37	chr5	140214268	140214268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgtgcgggcggagcgcGgagtgcagcatccacctgga	18	11	0	0	rs151308899		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:140214268G>A	uc003lhq.2	+	1	300	c.300G>A	c.(298-300)GCG>GCA	p.A100A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.A100A	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	100	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGAGCGCGGAGTGCAGCA	0.557													A	140214268	G	A	140214268	2	1	37	1	0	0	0	0	0	0	0	1	11529	1103	39	1		1	PCDHA7	5	140214268	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	5086	140214268	40700992	323	34388											
PCDHA8	56140	broad.mit.edu	37	chr5	140223021	140223021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgatcatcgccatctgCgcggtatccagcctgctggt	10	14	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:140223021C>T	uc003lhs.2	+	1	2115	c.2115C>T	c.(2113-2115)TGC>TGT	p.C705C	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.C705C	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	705	Helical; (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCCATCTGCGCGGTATCCA	0.662													T	140223021	C	T	140223021	2	4	37	1	0	0	0	0	0	0	0	1	11530	776	27	1		1	PCDHA8	5	140223021	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	8753	140223021	40692239	324	34389											
PCDHA11	56138	broad.mit.edu	37	chr5	140250465	140250465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggccacgtggtggcgaagGtgcgcgcagtggatgcggac	20	10	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:140250465G>A	uc003lia.2	+	1	2635	c.1777G>A	c.(1777-1779)GTG>ATG	p.V593M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.V593M	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	593	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCGAAGGTGCGCGCAGT	0.682													A	140250465	G	A	140250465	3	1	37	1	0	0	0	0	1	0	0	0	11521	1261	44	4	1779	4	PCDHA11	5	140250465	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	27444	140250465	40664795	325	34390											
PCDHB13	56123	broad.mit.edu	37	chr5	140595915	140595915	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcatcttgtggacatgagCggcaccaggaccctatccca	12	13	1	1	rs141051000		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:140595915C>T	uc003lja.1	+	1	2407	c.2220C>T	c.(2218-2220)AGC>AGT	p.S740S		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	740	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACATGAGCGGCACCAGGA	0.617													T	140595915	C	T	140595915	2	4	37	1	0	0	0	0	0	0	0	1	11538	767	27	1		1	PCDHB13	5	140595915	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	345450	140595915	40319345	326	34391											
PCDHGA5	56110	broad.mit.edu	37	chr5	140746310	140746310	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcaaacaaagaagaacggCgagttcaggttagttttctc	10	7	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:140746310C>T	uc003lju.1	+	1	2413	c.2413C>T	c.(2413-2415)CGA>TGA	p.R805*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Nonsense_Mutation_p.R805*	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	805	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R805*(1)		ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGAACGGCGAGTTCAGGT	0.418													T	140746310	C	T	140746310	4	4	37	1	0	0	0	0	0	1	0	0	11557	760	27	1	2415	1	PCDHGA5	5	140746310	Nonsense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	150395	140746310	40168950	327	34392											
PCDHGB3	56102	broad.mit.edu	37	chr5	140750133	140750133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggacctggggtttggcGtgggggatttacctactagg	16	8	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:140750133G>A	uc003ljw.1	+	1	172	c.172G>A	c.(172-174)GTG>ATG	p.V58M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc011dat.1_Missense_Mutation_p.V58M	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	58	Extracellular (Potential).|Cadherin 1.				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)			GGGGTTTGGCGTGGGGGATTT	0.547													A	140750133	G	A	140750133	3	1	37	1	0	0	0	0	1	0	0	0	11564	1145	40	1	174	1	PCDHGB3	5	140750133	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3823	140750133	40165127	328	34393											
PCDHGB6	56100	broad.mit.edu	37	chr5	140789324	140789324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtggtgttcgcgcagcgcGcctttgatcacgagcagctg	16	11	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:140789324G>A	uc003lkj.1	+	1	1555	c.1555G>A	c.(1555-1557)GCC>ACC	p.A519T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.A519T	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	519	Extracellular (Potential).|Cadherin 5.				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)			CGCGCAGCGCGCCTTTGATCA	0.667													A	140789324	G	A	140789324	3	1	37	1	0	0	0	0	1	0	0	0	11567	1087	38	1	1557	1	PCDHGB6	5	140789324	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	39191	140789324	40125936	329	34394											
PCDHGB6	56100	broad.mit.edu	37	chr5	140789386	140789386	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcccgcgaccacggctcGcccacgctcagcgccaacgt	11	20	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:140789386G>A	uc003lkj.1	+	1	1617	c.1617G>A	c.(1615-1617)TCG>TCA	p.S539S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.S539S	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	539	Extracellular (Potential).|Cadherin 5.				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)			ACCACGGCTCGCCCACGCTCA	0.701													A	140789386	G	A	140789386	2	1	37	1	0	0	0	0	0	0	0	1	11567	1074	38	1		1	PCDHGB6	5	140789386	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	62	140789386	40125874	330	34395											
PCDHGA10	56106	broad.mit.edu	37	chr5	140793850	140793850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcacctctgggaacagtcGtagcccttttaaatgtgcat	8	10	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:140793850G>A	uc003lkl.1	+	1	1108	c.1108G>A	c.(1108-1110)GTA>ATA	p.V370I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.V370I	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	370	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)			GGGAACAGTCGTAGCCCTTTT	0.403													A	140793850	G	A	140793850	3	1	37	1	0	0	0	0	1	0	0	0	11551	1145	40	1	1110	1	PCDHGA10	5	140793850	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	4464	140793850	40121410	331	34396											
PCDHGC3	5098	broad.mit.edu	37	chr5	140856242	140856242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcgcttcgcgtgcagacgCgggaggacagcaccaagtac	14	12	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:140856242C>T	uc003lkv.1	+	1	674	c.559C>T	c.(559-561)CGG>TGG	p.R187W	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.R187W|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	187	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCAGACGCGGGAGGACAG	0.597													T	140856242	C	T	140856242	3	4	37	1	0	0	0	0	1	0	0	0	11569	759	27	1	561	1	PCDHGC3	5	140856242	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	62392	140856242	40059018	332	34397											
DIAPH1	1729	broad.mit.edu	37	chr5	140908744	140908744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggcctcactcaccaccaCgccaaactgctctgactcag	6	18	4	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:140908744C>T	uc003llb.3	-	22	2914	c.2773G>A	c.(2773-2775)GTG>ATG	p.V925M	DIAPH1_uc011dbd.1_5'Flank|DIAPH1_uc003llc.3_Missense_Mutation_p.V916M|DIAPH1_uc010jgc.1_Missense_Mutation_p.V361M	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	925	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACCACCACGCCAAACTGC	0.512													T	140908744	C	T	140908744	3	4	37	1	0	0	0	0	1	0	0	0	4518	536	19	1	1077	1	DIAPH1	5	140908744	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	52502	140908744	40006516	333	34398											
ARHGAP26	23092	broad.mit.edu	37	chr5	142437269	142437270	+	Frame_Shift_Ins	INS	-	-	A													tgttcatcggctcccagagaINSaaaatcggcagatgttacag							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:142437268_142437269G>GA	uc011dbj.2	+	16	1529_1530	c.1494_1495G>GA	c.(1492-1497)gagaaafs	p.E498fs	ARHGAP26_uc003lmt.3_Frame_Shift_Ins_p.E498fs|ARHGAP26_uc003lmw.3_Frame_Shift_Ins_p.E498fs	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	498	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCTCCCAGAGAAAAATCGGCA	0.45													A	142437270	-	A	142437269	7	5	37	1	0	1	1	0	0	0	0	0	875	247	9	0	1561	0	ARHGAP26	5	142437269	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	1528525	142437269	38477991	334	34399											
LARS	51520	broad.mit.edu	37	chr5	145552290	145552290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtgtgtcccaaatgaaggCgtccattcatatatggatat	9	8	1	1	rs148510496	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:145552290C>T	uc003lnx.1	-	3	411	c.173G>A	c.(172-174)CGC>CAC	p.R58H	LARS_uc011dbq.1_Missense_Mutation_p.R58H|LARS_uc011dbr.1_Missense_Mutation_p.R4H|LARS_uc011dbs.1_Missense_Mutation_p.R58H	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	58	HIGH region.				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CAAATGAAGGCGTCCATTCAT	0.348													T	145552290	C	T	145552290	3	4	37	1	0	0	0	0	1	0	0	0	8634	768	27	1	3477	1	LARS	5	145552290	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3115021	145552290	35362970	335	34400											
ADRB2	154	broad.mit.edu	37	chr5	148206748	148206748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgatgtgctgtgcgtcacGgccagcattgagaccctgtg	13	10	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:148206748G>A	uc003lpr.1	+	1	593	c.354G>A	c.(352-354)ACG>ACA	p.T118T	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	118	Helical; Name=3.	Agonist or antagonist.			activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TGTGCGTCACGGCCAGCATTG	0.522													A	148206748	G	A	148206748	2	1	37	1	0	0	0	0	0	0	0	1	341	1103	39	1		1	ADRB2	5	148206748	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2654458	148206748	32708512	336	34401											
SLC26A2	1836	broad.mit.edu	37	chr5	149357647	149357647	+	Frame_Shift_Del	DEL	T	T	-													gtctatggtctgtacacatcTttttttgccagcatcattta							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:149357646_149357646CT>C	uc003lrh.3	+	1	699	c.431_431CT>C	c.(430-432)tctfs	p.S144fs		NM_000112	NP_000103	P50443	S26A2_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.	144						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTGTACACATCTTTTTTTGCC	0.463													-	149357647	T	-	149357647	7	5	37	1	0	1	0	1	0	0	0	0	14517	1596	56	0	434	0	SLC26A2	5	149357647	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	1150899	149357647	31557613	337	34402											
FAT2	2196	broad.mit.edu	37	chr5	150934154	150934154	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgggagaatataggtggAttgtcattgacgtccaagat	13	4	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:150934154A>T	uc003lue.3	-	4	3727	c.3714T>A	c.(3712-3714)AAT>AAA	p.N1238K	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1238	Extracellular (Potential).|Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATATAGGTGGATTGTCATTGA	0.562													T	150934154	A	T	150934154	3	4	37	1	0	0	0	0	1	0	0	0	5690	330	12	5	9415	5	FAT2	5	150934154	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	1576507	150934154	29981106	338	34403											
ADAM19	8728	broad.mit.edu	37	chr5	156920069	156920069	+	Frame_Shift_Del	DEL	C	C	-													gacctcggtagacgtgggtgCcccggcactggatctgcctc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:156920068_156920068GC>G	uc003lwz.3	-	15	1900	c.1821_1821GC>C	c.(1819-1821)ggcfs	p.G607fs	ADAM19_uc003lww.2_Frame_Shift_Del_p.G340fs|ADAM19_uc003lwy.3_Frame_Shift_Del_p.G206fs|ADAM19_uc011ddr.1_Frame_Shift_Del_p.G538fs	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	607	Cys-rich.				proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGACGTGGGTGCCCCGGCACT	0.607													-	156920069	C	-	156920069	7	5	37	1	0	1	0	1	0	0	0	0	240	739	26	0	968	0	ADAM19	5	156920069	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	5985915	156920069	23995191	339	34404											
CCNJL	79616	broad.mit.edu	37	chr5	159680577	159680577	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggagggatgagcctgtactCcccgagagcaggctccctga	14	12	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:159680577C>T	uc003lyb.1	-	7	1368	c.1116G>A	c.(1114-1116)GGG>GGA	p.G372G	CCNJL_uc011dee.1_Silent_p.G324G|CCNJL_uc003lyc.1_RNA	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	cyclin J-like	372						nucleus					0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCCTGTACTCCCCGAGAGCA	0.627													T	159680577	C	T	159680577	2	4	37	1	0	0	0	0	0	0	0	1	2929	842	30	4		4	CCNJL	5	159680577	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2760508	159680577	21234683	340	34405											
ODZ2	57451	broad.mit.edu	37	chr5	167489118	167489118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggtgaagcagaagttggtCggcgggtaacacaagaagtc	16	6	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:167489118C>T	uc010jjd.2	+	7	1363	c.1363C>T	c.(1363-1365)CGG>TGG	p.R455W	ODZ2_uc003lzq.2_Missense_Mutation_p.R334W|ODZ2_uc003lzr.3_Missense_Mutation_p.R223W	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AGAAGTTGGTCGGCGGGTAAC	0.458													T	167489118	C	T	167489118	3	4	37	1	0	0	0	0	1	0	0	0	10835	875	31	1	1389	1	ODZ2	5	167489118	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	7808541	167489118	13426142	341	34406											
C5orf41	153222	broad.mit.edu	37	chr5	172513527	172513527	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtaagcggaatggatccGcctttcggggatgcctttcg	14	9	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:172513527G>A	uc003mch.2	+	3	337	c.33G>A	c.(31-33)CCG>CCA	p.P11P	C5orf41_uc003mcg.2_Silent_p.P11P|C5orf41_uc003mcf.2_Silent_p.P11P|C5orf41_uc011dfd.1_Silent_p.P11P	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	luman-recruiting factor	11							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAATGGATCCGCCTTTCGGGG	0.428													A	172513527	G	A	172513527	2	1	37	1	0	0	0	0	0	0	0	1	2300	1074	38	1		1	C5orf41	5	172513527	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	5024409	172513527	8401733	342	34407											
CDHR2	54825	broad.mit.edu	37	chr5	176018287	176018287	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggggtgatgccctcagccCctgccatcccagggactaac	11	16	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:176018287C>A	uc003mem.1	+	29	3682	c.3616C>A	c.(3616-3618)CCT>ACT	p.P1206T	CDHR2_uc003men.1_Missense_Mutation_p.P1206T	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	1206	Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						GCCCTCAGCCCCTGCCATCCC	0.602													A	176018287	C	A	176018287	3	1	37	1	0	0	0	0	1	0	0	0	3119	623	22	5	3726	5	CDHR2	5	176018287	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3504760	176018287	4896973	343	34408											
NSD1	64324	broad.mit.edu	37	chr5	176687028	176687028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgctgtcctgtggcatacCacgccaatgacttttgcctg	9	14	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:176687028C>T	uc003mfr.3	+	14	5143	c.5005C>T	c.(5005-5007)CAC>TAC	p.H1669Y	NSD1_uc003mft.3_Missense_Mutation_p.H1400Y|NSD1_uc003mfs.1_Missense_Mutation_p.H1566Y|NSD1_uc011dfx.1_Missense_Mutation_p.H1317Y	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1669					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGTGGCATACCACGCCAATGA	0.448			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			T	176687028	C	T	176687028	3	4	37	1	0	0	0	0	1	0	0	0	10669	594	21	4	5055	4	NSD1	5	176687028	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	668741	176687028	4228232	344	34409											
DBN1	1627	broad.mit.edu	37	chr5	176885640	176885640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggggctcctccatggggcCggcccaggcctgaggggctg	19	13	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:176885640C>T	uc003mgy.2	-	12	1367	c.1195G>A	c.(1195-1197)GGC>AGC	p.G399S	DBN1_uc011dga.1_Missense_Mutation_p.G131S|DBN1_uc003mgx.2_Missense_Mutation_p.G401S|DBN1_uc010jkn.1_Missense_Mutation_p.G349S|DBN1_uc003mgz.1_Missense_Mutation_p.G382S	NM_004395	NP_004386	Q16643	DREB_HUMAN	drebrin 1 isoform a	399					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|ovary(1)|lung(1)|skin(1)	6	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCATGGGGCCGGCCCAGGCC	0.652													T	176885640	C	T	176885640	3	4	37	1	0	0	0	0	1	0	0	0	4252	652	23	1	766	1	DBN1	5	176885640	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	198612	176885640	4029620	345	34410											
ZNF354A	6940	broad.mit.edu	37	chr5	178139186	178139186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattctctgatgtgcaatacGtgatgagctttgtctaaaag	9	6	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:178139186G>A	uc003mjj.2	-	5	1891	c.1693C>T	c.(1693-1695)CGT>TGT	p.R565C		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	565	C2H2-type 12.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TGTGCAATACGTGATGAGCTT	0.358													A	178139186	G	A	178139186	3	1	37	1	0	0	0	0	1	0	0	0	17861	1145	40	1	128	1	ZNF354A	5	178139186	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1253546	178139186	2776074	346	34411											
ADAMTS2	9509	broad.mit.edu	37	chr5	178540988	178540988	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggttgggtggctggacttcAtcttccaggccatggatttt	13	8	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:178540988A>G	uc003mjw.2	-	22	3516	c.3516T>C	c.(3514-3516)GAT>GAC	p.D1172D	uc003mjv.3_5'Flank	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1172					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCTGGACTTCATCTTCCAGGC	0.517													G	178540988	A	G	178540988	2	3	37	1	0	0	0	0	0	0	0	1	265	214	8	3		3	ADAMTS2	5	178540988	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	401802	178540988	2374272	347	34412											
FLT4	2324	broad.mit.edu	37	chr5	180055888	180055888	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagggctgttaccactggAactcgggcggggggtacgct	17	11	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:180055888A>G	uc003mma.3	-	8	1176	c.1097T>C	c.(1096-1098)TTC>TCC	p.F366S	FLT4_uc003mlz.3_Missense_Mutation_p.F366S|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.1_Missense_Mutation_p.F366S|FLT4_uc011dgz.1_3'UTR	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	366	Ig-like C2-type 4.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TTACCACTGGAACTCGGGCGG	0.652									Congenital_Hereditary_Lymphedema				G	180055888	A	G	180055888	3	3	37	1	0	0	0	0	1	0	0	0	5944	246	9	3	3094	3	FLT4	5	180055888	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	1514900	180055888	859372	348	34413											
FAM50B	26240	broad.mit.edu	37	chr6	3850409	3850409	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaagatctcctgcctgtccTttgcactagacgacctcgat	8	13	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:3850409T>G	uc003mvu.2	+	2	476	c.364T>G	c.(364-366)TTT>GTT	p.F122V		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	122						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CTGCCTGTCCTTTGCACTAGA	0.517													G	3850409	T	G	3850409	3	3	37	1	0	0	0	0	1	0	0	0	5578	1609	56	5	366	5	FAM50B	6	3850409	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08		3850409	167264658	349	34414											
NEDD9	4739	broad.mit.edu	37	chr6	11185718	11185718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgacacaactgaagagtgCgtcaatggcgttgagaaggg	15	7	1	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:11185718C>T	uc003mzv.2	-	7	2349	c.2182G>A	c.(2182-2184)GCA>ACA	p.A728T	NEDD9_uc010joz.2_Missense_Mutation_p.A728T|NEDD9_uc003mzw.3_Missense_Mutation_p.A582T	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	728	Divergent helix-loop-helix motif.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CTGAAGAGTGCGTCAATGGCG	0.517													T	11185718	C	T	11185718	3	4	37	1	0	0	0	0	1	0	0	0	10313	768	27	1	326	1	NEDD9	6	11185718	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	7335309	11185718	159929349	350	34415											
LRRC16A	55604	broad.mit.edu	37	chr6	25492198	25492198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtggagctcttctccgtgGatgccttcaatatttagctg	10	10	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:25492198G>A	uc011djw.1	+	15	1542	c.1166G>A	c.(1165-1167)GGA>GAA	p.G389E	LRRC16A_uc010jpx.2_Missense_Mutation_p.G389E|LRRC16A_uc010jpy.2_Missense_Mutation_p.G389E	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	389					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						CTTCTCCGTGGATGCCTTCAA	0.418													A	25492198	G	A	25492198	3	1	37	1	0	0	0	0	1	0	0	0	8971	1174	41	4	1224	4	LRRC16A	6	25492198	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	14306480	25492198	145622869	351	34416											
SLC17A2	10246	broad.mit.edu	37	chr6	25924033	25924033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtggtgttcaccatggCgatgatcgcaatgctcagac	12	10	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:25924033C>T	uc011dkb.1	-	2	213	c.130G>A	c.(130-132)GCC>ACC	p.A44T	SLC17A2_uc011dkc.1_Missense_Mutation_p.A44T|SLC17A2_uc003nfl.2_Missense_Mutation_p.A44T			O00624	NPT3_HUMAN	SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;	44					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			ovary(1)	1						TTCACCATGGCGATGATCGCA	0.478													T	25924033	C	T	25924033	3	4	37	1	0	0	0	0	1	0	0	0	14417	768	27	1	1216	1	SLC17A2	6	25924033	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	431835	25924033	145191034	352	34417											
HIST1H3E	8353	broad.mit.edu	37	chr6	26225388	26225388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgcagatgaactatggcGcgtactaagcagacggctcg	12	10	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:26225388G>A	uc003nhb.2	+	2	366	c.6G>A	c.(4-6)GCG>GCA	p.A2A	HIST1H3E_uc003nhc.3_Silent_p.A2A	NM_021018	NP_066298	P68431	H31_HUMAN	histone cluster 1, H3f	2					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GAACTATGGCGCGTACTAAGC	0.532													A	26225388	G	A	26225388	2	1	37	1	0	0	0	0	0	0	0	1	7159	1074	38	1		1	HIST1H3E	6	26225388	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	301355	26225388	144889679	353	34418											
BTN3A1	11119	broad.mit.edu	37	chr6	26413715	26413715	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taagtatcggactctaactgAgcccagaaccaacctgaaac	7	12	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:26413715A>C	uc003nhv.2	+	10	1705	c.1337A>C	c.(1336-1338)GAG>GCG	p.E446A	BTN3A1_uc011dkj.1_3'UTR|BTN3A1_uc011dkk.1_Missense_Mutation_p.E394A|BTN3A1_uc010jqj.2_3'UTR	NM_007048	NP_008979	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1 isoform a	446	Cytoplasmic (Potential).|B30.2/SPRY.				lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						ACTCTAACTGAGCCCAGAACC	0.468													C	26413715	A	C	26413715	3	2	37	1	0	0	0	0	1	0	0	0	1562	304	11	5	1539	5	BTN3A1	6	26413715	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	188327	26413715	144701352	354	34419											
HIST1H2AL	8332	broad.mit.edu	37	chr6	27833264	27833264	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcaactatgctgagcgggtCggggccggcgcgccggtgta	19	11	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:27833264C>T	uc003njw.2	+	1	158	c.132C>T	c.(130-132)GTC>GTT	p.V44V		NM_003511	NP_003502	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	44					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding				0						CTGAGCGGGTCGGGGCCGGCG	0.692													T	27833264	C	T	27833264	2	4	37	1	0	0	0	0	0	0	0	1	7138	871	31	1		1	HIST1H2AL	6	27833264	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1419549	27833264	143281803	355	34420											
NKAPL	222698	broad.mit.edu	37	chr6	28227239	28227239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggggagcccaccatccccGcagagcagatgttcctcttg	11	15	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:28227239G>A	uc003nkt.2	+	1	142	c.90G>A	c.(88-90)CCG>CCA	p.P30P	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	30										upper_aerodigestive_tract(1)|ovary(1)	2						CACCATCCCCGCAGAGCAGAT	0.657													A	28227239	G	A	28227239	2	1	37	1	0	0	0	0	0	0	0	1	10440	1074	38	1		1	NKAPL	6	28227239	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	393975	28227239	142887828	356	34421											
TRIM10	10107	broad.mit.edu	37	chr6	30121851	30121851	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagatgggctctcgggtgacAgcgttggtgaaggtcaccca	15	9	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:30121851A>C	uc003npo.3	-	7	1417	c.1341T>G	c.(1339-1341)GCT>GCG	p.A447A	TRIM10_uc003npn.2_Intron	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	tripartite motif-containing 10 isoform 1	447	B30.2/SPRY.					cytoplasm	zinc ion binding				0						CTCGGGTGACAGCGTTGGTGA	0.607													C	30121851	A	C	30121851	2	2	37	1	0	0	0	0	0	0	0	1	16483	175	7	5		5	TRIM10	6	30121851	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	1894612	30121851	140993216	357	34422											
PPP1R10	5514	broad.mit.edu	37	chr6	30572415	30572415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaaccggggtgcctggaCggtctgcgtccattgcctca	16	12	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:30572415C>T	uc003nqn.1	-	12	1604	c.1052G>A	c.(1051-1053)CGT>CAT	p.R351H	PPP1R10_uc010jsc.1_Missense_Mutation_p.R5H	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	351					protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						GGTGCCTGGACGGTCTGCGTC	0.542													T	30572415	C	T	30572415	3	4	37	1	0	0	0	0	1	0	0	0	12352	536	19	1	1806	1	PPP1R10	6	30572415	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	450564	30572415	140542652	358	34423											
TUBB	203068	broad.mit.edu	37	chr6	30692147	30692147	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagaagaggaggaggatttCggtgaggaggccgaagagga	20	4	0	4	rs3873307		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:30692147C>T	uc003nrl.2	+	4	1435	c.1308C>T	c.(1306-1308)TTC>TTT	p.F436F	TUBB_uc003nrk.1_Missense_Mutation_p.R430W|TUBB_uc011dmq.1_Silent_p.F364F	NM_178014	NP_821133	P07437	TBB5_HUMAN	tubulin, beta	436					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			ovary(1)	1					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	AGGAGGATTTCGGTGAGGAGG	0.572													T	30692147	C	T	30692147	2	4	37	1	0	0	0	0	0	0	0	1	16749	883	31	1		1	TUBB	6	30692147	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	119732	30692147	140422920	359	34424											
FLOT1	10211	broad.mit.edu	37	chr6	30708321	30708321	+	Frame_Shift_Del	DEL	T	T	-													gcttctccaatccgtgcatcTttttggacttgagctgttcg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:30708320_30708320CT>C	uc003nrm.3	-	6	687	c.523_523AG>G	c.(523-525)gatfs	p.D175fs	FLOT1_uc011dmr.2_Frame_Shift_Del_p.D127fs	NM_005803	NP_005794	O75955	FLOT1_HUMAN	Homo sapiens flotillin 1 (FLOT1), mRNA.	175						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						ATCCGTGCATCTTTTTGGACT	0.512													-	30708321	T	-	30708321	7	5	37	1	0	1	0	1	0	0	0	0	5936	1606	56	0	789	0	FLOT1	6	30708321	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	16174	30708321	140406746	360	34425											
DDR1	780	broad.mit.edu	37	chr6	30865936	30865936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtacatcgggacctggCcacgcggaactgcctagttg	12	12	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:30865936C>T	uc003nrr.2	+	17	2562	c.2303C>T	c.(2302-2304)GCC>GTC	p.A768V	DDR1_uc010jse.2_Missense_Mutation_p.A731V|DDR1_uc003nrq.2_Missense_Mutation_p.A731V|DDR1_uc003nrs.2_Missense_Mutation_p.A768V|DDR1_uc003nrt.2_Missense_Mutation_p.A731V|DDR1_uc011dms.1_Missense_Mutation_p.A749V|DDR1_uc003nru.2_Missense_Mutation_p.A731V|DDR1_uc003nrv.2_Missense_Mutation_p.A774V|DDR1_uc003nrw.1_Missense_Mutation_p.A503V|DDR1_uc003nrz.1_Missense_Mutation_p.A93V	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	768	Cytoplasmic (Potential).|Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	CGGGACCTGGCCACGCGGAAC	0.562													T	30865936	C	T	30865936	3	4	37	1	0	0	0	0	1	0	0	0	4336	739	26	2	2379	2	DDR1	6	30865936	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	157615	30865936	140249131	361	34426											
C6orf25	80739	broad.mit.edu	37	chr6	31691611	31691611	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tttcgtcggccgcctacgctCcctggactctggtatccggc	11	16	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:31691611C>G	uc011doc.1	+	2	257	c.257C>G	c.(256-258)TCC>TGC	p.S86C	LY6G6C_uc003nwh.2_5'Flank|LY6G6C_uc010jtd.2_5'Flank|C6orf25_uc003nwk.2_Missense_Mutation_p.S86C|C6orf25_uc011dod.1_Missense_Mutation_p.S86C|C6orf25_uc011doe.1_Missense_Mutation_p.S86C|C6orf25_uc003nwo.2_Missense_Mutation_p.S86C|C6orf25_uc003nwn.2_Missense_Mutation_p.S86C	NM_138272	NP_612116	O95866	G6B_HUMAN	G6B protein isoform G6b-B precursor	86	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity				0						CGCCTACGCTCCCTGGACTCT	0.672													G	31691611	C	G	31691611	3	3	37	1	0	0	0	0	1	0	0	0	2360	855	30	5	263	5	C6orf25	6	31691611	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	825675	31691611	139423456	362	34427											
VARS	7407	broad.mit.edu	37	chr6	31752401	31752401	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagatggcggagttgagggTgcaggaccagttaacaaggc	17	6	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:31752401T>C	uc003nxe.2	-	11	1861	c.1438A>G	c.(1438-1440)ACC>GCC	p.T480A	VARS_uc011doi.1_RNA	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	480					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	GAGTTGAGGGTGCAGGACCAG	0.612													C	31752401	T	C	31752401	3	2	37	1	0	0	0	0	1	0	0	0	17120	1696	59	3	2436	3	VARS	6	31752401	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	60790	31752401	139362666	363	34428											
TNXB	7148	broad.mit.edu	37	chr6	32037632	32037632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtatcatccatagcactcCgggcttctgagatggagaca	10	11	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:32037632C>T	uc003nzl.2	-	15	5487	c.5285G>A	c.(5284-5286)CGG>CAG	p.R1762Q		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1844					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CATAGCACTCCGGGCTTCTGA	0.597													T	32037632	C	T	32037632	3	4	37	1	0	0	0	0	1	0	0	0	16343	652	23	1	9548	1	TNXB	6	32037632	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	285231	32037632	139077435	364	34429											
NOTCH4	4855	broad.mit.edu	37	chr6	32190542	32190542	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgggcgttctggcaggggTcaggaaactggcacgtctca	16	10	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:32190542T>C	uc003obb.2	-	3	336	c.197A>G	c.(196-198)GAC>GGC	p.D66G	NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.D66G	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	66	Extracellular (Potential).|EGF-like 2.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						CTGGCAGGGGTCAGGAAACTG	0.562													C	32190542	T	C	32190542	3	2	37	1	0	0	0	0	1	0	0	0	10551	1667	58	3	5926	3	NOTCH4	6	32190542	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	152910	32190542	138924525	365	34430											
ITPR3	3710	broad.mit.edu	37	chr6	33654203	33654203	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacttgcattgtgactcaCgagtccaatggcatagacat	9	10	1	3	rs145776727	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:33654203C>T	uc011drk.1	+	43	6105	c.5886C>T	c.(5884-5886)CAC>CAT	p.H1962H	ITPR3_uc003oey.2_Silent_p.H49H	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1962	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						TTGTGACTCACGAGTCCAATG	0.592													T	33654203	C	T	33654203	2	4	37	1	0	0	0	0	0	0	0	1	7922	535	19	1		1	ITPR3	6	33654203	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1463661	33654203	137460864	366	34431											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34825955	34825955	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttgcatcgtccccaggccCttgtcttctctgcgtcaggc	10	15	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:34825955C>A	uc003oju.3	+	14	2056	c.1822C>A	c.(1822-1824)CTT>ATT	p.L608I	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	608										ovary(3)	3						TCCCCAGGCCCTTGTCTTCTC	0.498													A	34825955	C	A	34825955	3	1	37	1	0	0	0	0	1	0	0	0	16965	681	24	5	1876	5	UHRF1BP1	6	34825955	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1171752	34825955	136289112	367	34432											
ETV7	51513	broad.mit.edu	37	chr6	36334731	36334731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagggcacgagacatcttctCgtaggtcatgttcacccggt	11	12	4	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:36334731C>T	uc003omb.2	-	7	978	c.829G>A	c.(829-831)GAG>AAG	p.E277K	ETV7_uc003olz.1_Missense_Mutation_p.E277K|ETV7_uc003oma.1_Missense_Mutation_p.E222K|ETV7_uc010jwg.2_RNA|ETV7_uc003omc.2_Missense_Mutation_p.E222K|ETV7_uc010jwj.2_Missense_Mutation_p.E218K|ETV7_uc010jwh.2_Missense_Mutation_p.E196K|ETV7_uc010jwi.2_Missense_Mutation_p.E200K|ETV7_uc011dtl.1_Missense_Mutation_p.E126K	NM_016135	NP_057219	Q9Y603	ETV7_HUMAN	ets variant 7	277	ETS.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						GACATCTTCTCGTAGGTCATG	0.542													T	36334731	C	T	36334731	3	4	37	1	0	0	0	0	1	0	0	0	5284	893	31	1	204	1	ETV7	6	36334731	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1508776	36334731	134780336	368	34433											
TBC1D22B	55633	broad.mit.edu	37	chr6	37250063	37250064	+	Frame_Shift_Ins	INS	-	-	C													gatcagaacgcttctggggcINSccccccaatgactgtccggg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:37250062_37250063G>GC	uc003onn.3	+	3	669_670	c.523_524G>GC	c.(523-525)gccfs	p.A175fs	TBC1D22B_uc010jwt.3_Non-coding_Transcript	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA.	175						intracellular	Rab GTPase activator activity	p.A175P(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CGCTTCTGGGGCCCCCCCAATG	0.569													C	37250064	-	C	37250063	7	5	37	1	0	1	1	0	0	0	0	0	15609	739	26	0	538	0	TBC1D22B	6	37250063	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	915332	37250063	133865004	369	34434											
CUL7	9820	broad.mit.edu	37	chr6	43020511	43020511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccctgaattccctgtagcGgagttctcccaccatcctgg	8	16	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:43020511G>A	uc003otq.2	-	2	319	c.16C>T	c.(16-18)CGC>TGC	p.R6C	CUL7_uc011dvb.1_Missense_Mutation_p.R58C|CUL7_uc010jyh.2_5'UTR|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	6					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCCCTGTAGCGGAGTTCTCCC	0.562													A	43020511	G	A	43020511	3	1	37	1	0	0	0	0	1	0	0	0	4060	1116	39	1	5276	1	CUL7	6	43020511	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	5770448	43020511	128094556	370	34435											
VEGFA	7422	broad.mit.edu	37	chr6	43745279	43745279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtggacatcttccaggaGtaccctgatgagatcgagta	12	9	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:43745279G>A	uc003owc.2	+	3	1223	c.192G>A	c.(190-192)GAG>GAA	p.E64E	VEGFA_uc003owb.2_Silent_p.E64E|VEGFA_uc003owd.2_Silent_p.E244E|VEGFA_uc003owf.2_Silent_p.E244E|VEGFA_uc003owe.2_Silent_p.E244E|VEGFA_uc003owg.2_Silent_p.E244E|VEGFA_uc003owh.2_Silent_p.E244E|VEGFA_uc003owi.2_Silent_p.E244E|VEGFA_uc003owj.2_Silent_p.E244E|VEGFA_uc010jyx.2_Silent_p.E64E|VEGFA_uc003owk.2_5'Flank	NM_001025370	NP_001020541	P15692	VEGFA_HUMAN	vascular endothelial growth factor A isoform f	64					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			ovary(1)|breast(1)	2	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	TCTTCCAGGAGTACCCTGATG	0.562													A	43745279	G	A	43745279	2	1	37	1	0	0	0	0	0	0	0	1	17147	1020	36	4		4	VEGFA	6	43745279	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	724768	43745279	127369788	371	34436											
ENPP5	59084	broad.mit.edu	37	chr6	46135200	46135200	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcaagatggctgctactggaGattgatcaatcagggtatag	13	6	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:46135200G>T	uc003oxz.1	-	2	1008	c.800C>A	c.(799-801)TCT>TAT	p.S267Y	ENPP5_uc003oya.1_Missense_Mutation_p.S267Y|ENPP5_uc011dvz.1_Missense_Mutation_p.S173Y|ENPP5_uc010jzc.1_Missense_Mutation_p.S267Y	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	267						extracellular region|integral to membrane	hydrolase activity				0						TGCTACTGGAGATTGATCAAT	0.443													T	46135200	G	T	46135200	3	4	37	1	0	0	0	0	1	0	0	0	5133	942	33	5	645	5	ENPP5	6	46135200	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2389921	46135200	124979867	372	34437											
HMGCLL1	54511	broad.mit.edu	37	chr6	55406583	55406583	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctattacagacaagccagTttgggaaagtcgattgataa	9	6	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:55406583T>C	uc003pcn.2	-	4	490	c.331A>G	c.(331-333)ACT>GCT	p.T111A	HMGCLL1_uc003pco.2_Missense_Mutation_p.T81A|HMGCLL1_uc010jzx.2_5'UTR|HMGCLL1_uc011dxc.1_Missense_Mutation_p.T81A|HMGCLL1_uc011dxd.1_Missense_Mutation_p.T81A|HMGCLL1_uc011dxe.1_Missense_Mutation_p.T81A|HMGCLL1_uc003pcp.2_Missense_Mutation_p.T81A	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	111							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GACAAGCCAGTTTGGGAAAGT	0.308													C	55406583	T	C	55406583	3	2	37	1	0	0	0	0	1	0	0	0	7230	1725	60	3	809	3	HMGCLL1	6	55406583	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	9271383	55406583	115708484	373	34438											
DST	667	broad.mit.edu	37	chr6	56374465	56374465	+	Frame_Shift_Del	DEL	C	C	-													gcagatatgtctttatcagtCcccccagatctagcaatcat							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:56374464_56374464TC>T	uc003pcy.4	-	54	11227	c.11119_11119GA>A	c.(11119-11121)actfs	p.T3707fs		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	6119					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	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTTTATCAGTCCCCCCAGAT	0.383													-	56374465	C	-	56374465	7	5	37	1	0	1	0	1	0	0	0	0	4783	842	30	0	4517	0	DST	6	56374465	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	967882	56374465	114740602	374	34439											
KHDRBS2	202559	broad.mit.edu	37	chr6	62887150	62887150	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agctttatgtttttgttgctGatgacatcaagatacttctt	7	6	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:62887150G>A	uc003peg.2	-	2	406	c.159C>T	c.(157-159)ATC>ATT	p.I53I		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTTTGTTGCTGATGACATCAA	0.328													A	62887150	G	A	62887150	2	1	37	1	0	0	0	0	0	0	0	1	8147	1280	45	4		4	KHDRBS2	6	62887150	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	6512685	62887150	108227917	375	34440											
PHF3	23469	broad.mit.edu	37	chr6	64408417	64408418	+	Frame_Shift_Ins	INS	-	-	T													ttgagaaagagcttttctctINSttttttcgggacacagatgc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:64408416_64408417C>CT	uc003pep.1	+	6	2928_2929	c.2903_2904C>CT	c.(2902-2904)tctfs	p.S968fs	PHF3_uc010kah.1_Frame_Shift_Ins_p.S782fs|PHF3_uc003pen.2_Frame_Shift_Ins_p.S880fs|PHF3_uc011dxs.1_Frame_Shift_Ins_p.S237fs	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	968	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	p.R971fs*6(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAGCTTTTCTCTTTTTTTCGGG	0.302													T	64408418	-	T	64408417	7	5	37	1	0	1	1	0	0	0	0	0	11836	1596	56	0	2930	0	PHF3	6	64408417	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	1521267	64408417	106706650	376	34441											
ZNF292	23036	broad.mit.edu	37	chr6	87965771	87965771	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caacattataatacgtacacTtgtaagttcacaggttgtgg	8	7	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:87965771T>G	uc003plm.3	+	8	2465	c.2424T>G	c.(2422-2424)ACT>ACG	p.T808T		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	808	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATACGTACACTTGTAAGTTCA	0.378													G	87965771	T	G	87965771	2	3	37	1	0	0	0	0	0	0	0	1	17823	1596	56	5		5	ZNF292	6	87965771	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	23557354	87965771	83149296	377	34442											
ZNF292	23036	broad.mit.edu	37	chr6	87967537	87967537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtgggcacttatccaagcGatcttactgtaaaccactgg	11	10	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:87967537G>A	uc003plm.3	+	8	4231	c.4190G>A	c.(4189-4191)CGA>CAA	p.R1397Q		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1397	C2H2-type 8; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TTATCCAAGCGATCTTACTGT	0.443													A	87967537	G	A	87967537	3	1	37	1	0	0	0	0	1	0	0	0	17823	1058	37	1	4220	1	ZNF292	6	87967537	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1766	87967537	83147530	378	34443											
ZNF292	23036	broad.mit.edu	37	chr6	87968758	87968758	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtaaacactgtgcaaaataAcaaattacccgattcttctc	4	10	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:87968758A>G	uc003plm.3	+	8	5452	c.5411A>G	c.(5410-5412)AAC>AGC	p.N1804S		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1804					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTGCAAAATAACAAATTACCC	0.363													G	87968758	A	G	87968758	3	3	37	1	0	0	0	0	1	0	0	0	17823	43	2	3	5441	3	ZNF292	6	87968758	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	1221	87968758	83146309	379	34444											
MDN1	23195	broad.mit.edu	37	chr6	90382364	90382364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagaggatggctcggatgGcaatttccatttgctctgaa	11	9	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:90382364G>A	uc003pnn.1	-	81	13648	c.13532C>T	c.(13531-13533)GCC>GTC	p.A4511V		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4511					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGCTCGGATGGCAATTTCCAT	0.408													A	90382364	G	A	90382364	3	1	37	1	0	0	0	0	1	0	0	0	9415	1203	42	2	3346	2	MDN1	6	90382364	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2413606	90382364	80732703	380	34445											
MDN1	23195	broad.mit.edu	37	chr6	90433306	90433306	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagtactggcaatgaactcCatgtcaattactgtaagggg	10	7	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:90433306C>A	uc003pnn.1	-	39	5819	c.5703G>T	c.(5701-5703)ATG>ATT	p.M1901I		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1901					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAATGAACTCCATGTCAATTA	0.348													A	90433306	C	A	90433306	3	1	37	1	0	0	0	0	1	0	0	0	9415	594	21	5	11343	5	MDN1	6	90433306	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	50942	90433306	80681761	381	34446											
ASCC3	10973	broad.mit.edu	37	chr6	101037585	101037585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacattttaactgtttgatgCttcaaatagtaataggaggc	8	5	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:101037585C>T	uc003pqk.2	-	36	5804	c.5475G>A	c.(5473-5475)AAG>AAA	p.K1825K		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1825	SEC63 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTGTTTGATGCTTCAAATAGT	0.348													T	101037585	C	T	101037585	2	4	37	1	0	0	0	0	0	0	0	1	1033	796	28	2		2	ASCC3	6	101037585	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	10604279	101037585	70077482	382	34447											
ASCC3	10973	broad.mit.edu	37	chr6	101100601	101100601	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatttgcattagtataatacCtcaatggtgttgtatttaat	6	4	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:101100601C>A	uc003pqk.2	-	18	3317	c.2988G>T	c.(2986-2988)GAG>GAT	p.E996D	ASCC3_uc011eai.1_Missense_Mutation_p.E898D	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	996	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AGTATAATACCTCAATGGTGT	0.294													A	101100601	C	A	101100601	3	1	37	1	0	0	0	0	1	0	0	0	1033	695	24	5	3720	5	ASCC3	6	101100601	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	63016	101100601	70014466	383	34448											
FIG4	9896	broad.mit.edu	37	chr6	110037748	110037748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctcgggcttatttcgagCggtttcagcttttggtgttg	12	8	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:110037748C>T	uc003ptt.2	+	3	481	c.266C>T	c.(265-267)GCG>GTG	p.A89V	FIG4_uc011eau.1_Intron	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	89					cell death	endosome membrane	protein binding			ovary(1)	1		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TTATTTCGAGCGGTTTCAGCT	0.413													T	110037748	C	T	110037748	3	4	37	1	0	0	0	0	1	0	0	0	5888	768	27	1	276	1	FIG4	6	110037748	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	8937147	110037748	61077319	384	34449											
LAMA4	3910	broad.mit.edu	37	chr6	112438991	112438992	+	Frame_Shift_Ins	INS	-	-	G													agtaagttcctgtttccatgINSgggccttcaaagcaaggggt							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:112438990_112438991T>TG	uc003pvu.2	-	34	5241_5242	c.4932_4933A>CA	c.(4930-4935)cccatgfs	p.P1644fs	LAMA4_uc003pvv.2_Frame_Shift_Ins_p.P1637fs|LAMA4_uc003pvt.2_Frame_Shift_Ins_p.P1637fs	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	1644					cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCTGTTTCCATGGGGCCTTCAA	0.446													G	112438992	-	G	112438991	7	5	37	1	0	1	1	0	0	0	0	0	8608	1335	47	0	559	0	LAMA4	6	112438991	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	2401243	112438991	58676076	385	34450											
FAM26E	254228	broad.mit.edu	37	chr6	116836954	116836954	+	Frame_Shift_Del	DEL	T	T	-													agcgagaggaacctgaaatgTttttttgaaaacaagaggcc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:116836953_116836953GT>G	uc003pwy.3	+	1	783	c.731_731GT>G	c.(730-732)tgtfs	p.C244fs	BET3L_uc011ebh.2_Intron	NM_153711	NP_714922	Q8N5C1	FA26E_HUMAN	Homo sapiens family with sequence similarity 26, member E (FAM26E), mRNA.	244						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		AACCTGAAATGTTTTTTTGAA	0.463													-	116836954	T	-	116836954	7	5	37	1	0	1	0	1	0	0	0	0	5550	1731	60	0	738	0	FAM26E	6	116836954	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	4397963	116836954	54278113	386	34451											
ROS1	6098	broad.mit.edu	37	chr6	117714487	117714487	+	Splice_Site	DEL	A	A	-													taaatcacagacacatacctAaaaaaataaaaaatataccg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:117714486_117714486TA>T	uc003pxp.1	-	11	1364	c.1165_splice	c.e11-1	p.V389_splice	ROS1_uc011ebi.1_Splice_Site|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	389					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GACACATACCTAAAAAAATAA	0.368			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								-	117714487	A	-	117714487	8	5	37	1	0	1	0	1	0	0	1	0	13531	377	13	0		0	ROS1	6	117714487	Splice_Site	DEL	A	TCGA-BR-6566-01A-11D-1800-08	877533	117714487	53400580	387	34452											
C6orf204	387119	broad.mit.edu	37	chr6	118953732	118953732	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacagttgtggcctgccacAatgattcattagcaggtagc	11	9	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:118953732A>C	uc003pxz.1	-	2	704	c.116T>G	c.(115-117)TTG>TGG	p.L39W	C6orf204_uc003pya.1_Missense_Mutation_p.L42W|C6orf204_uc003pyb.2_Missense_Mutation_p.L39W|C6orf204_uc011ebj.1_Translation_Start_Site|C6orf204_uc003pyc.2_Missense_Mutation_p.L42W|C6orf204_uc011ebl.1_Translation_Start_Site	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	39						centrosome				breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)		GGCCTGCCACAATGATTCATT	0.408													C	118953732	A	C	118953732	3	2	37	1	0	0	0	0	1	0	0	0	2353	131	5	5	2403	5	C6orf204	6	118953732	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	1239245	118953732	52161335	388	34453											
FAM184A	79632	broad.mit.edu	37	chr6	119324726	119324728	+	In_Frame_Del	DEL	TCT	TCT	-													ttttgtccactttgagcttcTcttcttctttcatggcagca							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:119324725_119324727CTCT>C	uc003pyj.3	-	7	2224_2226	c.1876_1878AGAG>G	c.(1876-1878)gag>G	p.E626del	FAM184A_uc003pyk.4_In_Frame_Del_p.E506del|FAM184A_uc003pyl.4_In_Frame_Del_p.E506del	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	626										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTTTGAGCTTCTCTTCTTCTTTC	0.34													-	119324728	TCT	-	119324726	7	5	37	1	0	1	0	1	0	0	0	0	5511	1551	54	0	1589	0	FAM184A	6	119324726	In_Frame_Del	DEL	TCT	TCGA-BR-6566-01A-11D-1800-08	370994	119324726	51790341	389	34454											
MAN1A1	4121	broad.mit.edu	37	chr6	119569513	119569513	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagttccactgctttctttcGaaaaatctgaaaagtcaaac	5	9	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:119569513G>A	uc003pym.1	-	6	1346	c.904C>T	c.(904-906)CGA>TGA	p.R302*	MAN1A1_uc010kei.1_Nonsense_Mutation_p.R325*	NM_005907	NP_005898	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	302	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GCTTTCTTTCGAAAAATCTGA	0.348													A	119569513	G	A	119569513	4	1	37	1	0	0	0	0	0	1	0	0	9210	1066	37	1	1089	1	MAN1A1	6	119569513	Nonsense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	244787	119569513	51545554	390	34455											
ECHDC1	55862	broad.mit.edu	37	chr6	127651955	127651955	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaagatccctaataccTgaaaaggcattcattctact	4	9	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:127651955T>C	uc003qax.2	-	2	273	c.237A>G	c.(235-237)TCA>TCG	p.S79S	ECHDC1_uc003qaz.3_Silent_p.S73S|ECHDC1_uc010key.2_Intron|ECHDC1_uc003qay.3_Silent_p.S73S|ECHDC1_uc010kez.2_Intron|ECHDC1_uc010kex.2_RNA	NM_001139510	NP_001132982	Q9NTX5	ECHD1_HUMAN	enoyl Coenzyme A hydratase domain containing 1	79							catalytic activity				0				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		CCCTAATACCTGAAAAGGCAT	0.308													C	127651955	T	C	127651955	2	2	37	1	0	0	0	0	0	0	0	1	4893	1594	55	3		3	ECHDC1	6	127651955	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	8082442	127651955	43463112	391	34456											
HBS1L	10767	broad.mit.edu	37	chr6	135318743	135318743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaatggcatcttcaatgggCggtcctttttgaggtgtgtg	14	7	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:135318743C>T	uc003qez.2	-	6	798	c.591G>A	c.(589-591)CCG>CCA	p.P197P	HBS1L_uc003qey.2_Silent_p.P33P|HBS1L_uc011ecy.1_Intron|HBS1L_uc011ecz.1_Silent_p.P33P|HBS1L_uc011eda.1_Silent_p.P155P	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Hsp70 subfamily B suppressor 1-like protein	197					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			skin(2)	2	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CTTCAATGGGCGGTCCTTTTT	0.413													T	135318743	C	T	135318743	2	4	37	1	0	0	0	0	0	0	0	1	6987	755	27	1		1	HBS1L	6	135318743	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	7666788	135318743	35796324	392	34457											
MYB	4602	broad.mit.edu	37	chr6	135507123	135507123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcccaagtctggaaagCgtcacttggggaaaacaagg	12	9	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:135507123C>T	uc003qfc.2	+	2	305	c.106C>T	c.(106-108)CGT>TGT	p.R36C	MYB_uc003qfh.2_Missense_Mutation_p.R36C|MYB_uc003qfi.2_Missense_Mutation_p.R36C|MYB_uc010kgi.2_Missense_Mutation_p.R36C|MYB_uc003qfq.2_Missense_Mutation_p.R36C|MYB_uc010kgj.2_Missense_Mutation_p.R36C|MYB_uc003qfo.2_Missense_Mutation_p.R36C|MYB_uc003qfu.2_Missense_Mutation_p.R36C|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_5'UTR|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_5'UTR|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.R36C|MYB_uc003qgd.1_5'Flank	NM_005375	NP_005366	P10242	MYB_HUMAN	v-myb myeloblastosis viral oncogene homolog	36	HTH myb-type 1.				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			lung(1)	1	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GTCTGGAAAGCGTCACTTGGG	0.398			T	NFIB	adenoid cystic carcinoma								T	135507123	C	T	135507123	3	4	37	1	0	0	0	0	1	0	0	0	10007	768	27	1	112	1	MYB	6	135507123	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	188380	135507123	35607944	393	34458											
SLC35D3	340146	broad.mit.edu	37	chr6	137245806	137245806	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgaagaaggattatttgaTagaaaacgaggagttaccca	10	4	0	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:137245806T>C	uc003qhe.2	+	2	1388	c.1223T>C	c.(1222-1224)ATA>ACA	p.I408T		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	408					carbohydrate transport	integral to membrane				ovary(1)|central_nervous_system(1)	2	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GATTATTTGATAGAAAACGAG	0.423													C	137245806	T	C	137245806	3	2	37	1	0	0	0	0	1	0	0	0	14583	1406	49	3	1229	3	SLC35D3	6	137245806	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	1738683	137245806	33869261	394	34459											
HEBP2	23593	broad.mit.edu	37	chr6	138734184	138734185	+	Frame_Shift_Ins	INS	-	-	A													aatgaagtgtggttgattcaINSaaaaaatgaacccaccaaag							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:138734183_138734184C>CA	uc003qhw.1	+	3	883_884	c.586_587C>CA	c.(586-588)caafs	p.Q196fs		NM_014320	NP_055135	Q9Y5Z4	HEBP2_HUMAN	Homo sapiens heme binding protein 2 (HEBP2), mRNA.	196						mitochondrion		p.N198fs*2(1)		endometrium(1)|large_intestine(1)|lung(3)	5	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		GTGGTTGATTCAAAAAAATGAA	0.361													A	138734185	-	A	138734184	7	5	37	1	0	1	1	0	0	0	0	0	7037	130	5	0	601	0	HEBP2	6	138734184	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	1488378	138734184	32380883	395	34460											
SHPRH	257218	broad.mit.edu	37	chr6	146264759	146264759	+	Frame_Shift_Del	DEL	T	T	-													ataaatggttgactttttccTttttttgtggatggaacaag							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:146264758_146264758CT>C	uc003qlf.3	-	8	2158	c.1759_1759AG>G	c.(1759-1761)ggafs	p.G587fs	SHPRH_uc003qle.3_Frame_Shift_Del_p.G587fs|SHPRH_uc003qlg.1_Frame_Shift_Del_p.G143fs|SHPRH_uc003qlj.1_Frame_Shift_Del_p.G476fs	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	587					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGACTTTTTCCTTTTTTTGTG	0.368													-	146264759	T	-	146264759	7	5	37	1	0	1	0	1	0	0	0	0	14291	1606	56	0	3425	0	SHPRH	6	146264759	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	7530575	146264759	24850308	396	34461											
MTHFD1L	25902	broad.mit.edu	37	chr6	151209072	151209072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttccagagaaaagggtcCatgacaatgagcatccagtg	11	9	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:151209072C>T	uc003qob.2	+	7	1003	c.735C>T	c.(733-735)TCC>TCT	p.S245S	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Silent_p.S246S|MTHFD1L_uc003qoc.2_Silent_p.S193S|MTHFD1L_uc003qoa.1_Silent_p.S245S|MTHFD1L_uc010kil.1_RNA	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	245	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GAAAAGGGTCCATGACAATGA	0.383													T	151209072	C	T	151209072	2	4	37	1	0	0	0	0	0	0	0	1	9928	581	21	4		4	MTHFD1L	6	151209072	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	4944313	151209072	19905995	397	34462											
SYNE1	23345	broad.mit.edu	37	chr6	152680514	152680514	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagttctagctgggtgacaTagtgttctgtcatgccagcc	13	9	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:152680514T>C	uc010kiw.2	-	65	10981	c.10379A>G	c.(10378-10380)TAT>TGT	p.Y3460C	SYNE1_uc003qot.3_Missense_Mutation_p.Y3467C|SYNE1_uc003qou.3_Missense_Mutation_p.Y3460C|SYNE1_uc010kja.1_Missense_Mutation_p.Y165C	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3460	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)		CTGGGTGACATAGTGTTCTGT	0.458										HNSCC(10;0.0054)			C	152680514	T	C	152680514	3	2	37	1	0	0	0	0	1	0	0	0	15442	1406	49	3	16415	3	SYNE1	6	152680514	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	1471442	152680514	18434553	398	34463											
SYNE1	23345	broad.mit.edu	37	chr6	152749388	152749388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgtctgtctctccttcGccctccttaggatgtcctcg	9	17	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:152749388G>A	uc010kiw.2	-	37	5530	c.4928C>T	c.(4927-4929)GCG>GTG	p.A1643V	SYNE1_uc003qot.3_Missense_Mutation_p.A1650V|SYNE1_uc003qou.3_Missense_Mutation_p.A1643V|SYNE1_uc010kjb.1_Missense_Mutation_p.A1626V|SYNE1_uc003qow.2_Missense_Mutation_p.A938V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1643	Spectrin 1.|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)		TCTCTCCTTCGCCCTCCTTAG	0.537										HNSCC(10;0.0054)			A	152749388	G	A	152749388	3	1	37	1	0	0	0	0	1	0	0	0	15442	1087	38	1	21978	1	SYNE1	6	152749388	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	68874	152749388	18365679	399	34464											
SYNE1	23345	broad.mit.edu	37	chr6	152831394	152831394	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccttggatcttggtggtcAccttccgtttacttggtggg	12	9	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:152831394A>G	uc010kiw.2	-	8	1117	c.515T>C	c.(514-516)GTG>GCG	p.V172A	SYNE1_uc003qot.3_Missense_Mutation_p.V179A|SYNE1_uc003qou.3_Missense_Mutation_p.V172A|SYNE1_uc010kjb.1_Missense_Mutation_p.V172A|SYNE1_uc003qpa.1_Missense_Mutation_p.V172A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	172	Actin-binding.|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)		CTTGGTGGTCACCTTCCGTTT	0.488										HNSCC(10;0.0054)			G	152831394	A	G	152831394	3	3	37	1	0	0	0	0	1	0	0	0	15442	159	6	3	26507	3	SYNE1	6	152831394	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	82006	152831394	18283673	400	34465											
SYNJ2	8871	broad.mit.edu	37	chr6	158497755	158497755	+	Frame_Shift_Del	DEL	C	C	-													tacaagcgacaaatgccgcaCccccgcctggacagacaggg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:158497754_158497754AC>A	uc003qqx.2	+	16	2495	c.2389_2389AC>A	c.(2389-2391)accfs	p.T797fs	SYNJ2_uc003qqw.2_Frame_Shift_Del_p.T797fs|SYNJ2_uc003qqy.2_Frame_Shift_Del_p.T560fs|SYNJ2_uc003qqz.2_Frame_Shift_Del_p.T414fs|SYNJ2_uc003qra.2_Frame_Shift_Del_p.T140fs	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	797							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	p.R796C(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CAAATGCCGCACCCCCGCCTG	0.537													-	158497755	C	-	158497755	7	5	37	1	0	1	0	1	0	0	0	0	15450	507	18	0	2456	0	SYNJ2	6	158497755	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	5666361	158497755	12617312	401	34466											
C6orf118	168090	broad.mit.edu	37	chr6	165715776	165715776	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctcgcagtgcttccacTtcaggtacactggtcagaaa	10	12	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:165715776T>G	uc003qum.3	-	2	71	c.35A>C	c.(34-36)AAG>ACG	p.K12T	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	12											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GTGCTTCCACTTCAGGTACAC	0.532													G	165715776	T	G	165715776	3	3	37	1	0	0	0	0	1	0	0	0	2323	1609	56	5	1406	5	C6orf118	6	165715776	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	7218021	165715776	5399291	402	34467											
T	6862	broad.mit.edu	37	chr6	166580221	166580221	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccggcttgccccccggCacccattccccgttcacgta	9	20	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:166580221C>T	uc003quu.1	-	3	823	c.330G>A	c.(328-330)GTG>GTA	p.V110V	T_uc003qut.1_Silent_p.V110V|T_uc003quv.1_Silent_p.V110V	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	110	T-box.				anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TGCCCCCCGGCACCCATTCCC	0.657									Chordoma_Familial_Clustering_of				T	166580221	C	T	166580221	2	4	37	1	0	0	0	0	0	0	0	1	15485	697	25	2		2	T	6	166580221	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	864445	166580221	4534846	403	34468											
UNC93A	54346	broad.mit.edu	37	chr6	167721272	167721272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctgcacccccaggcgcgGtgacccacgtgtcctgcatg	11	18	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:167721272G>A	uc003qvq.2	+	7	1157	c.982G>A	c.(982-984)GTG>ATG	p.V328M	UNC93A_uc003qvr.2_Missense_Mutation_p.V286M	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	328	Helical; (Potential).					integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCCAGGCGCGGTGACCCACGT	0.622													A	167721272	G	A	167721272	3	1	37	1	0	0	0	0	1	0	0	0	16993	1261	44	4	1008	4	UNC93A	6	167721272	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1141051	167721272	3393795	404	34469											
DLL1	28514	broad.mit.edu	37	chr6	170597536	170597536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaccactcctcgcccaccGtcaggtgcctctgggtggcc	13	17	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:170597536G>A	uc003qxm.2	-	4	931	c.461C>T	c.(460-462)ACG>ATG	p.T154M	DLL1_uc011ehc.1_Missense_Mutation_p.T154M|DLL1_uc003qxn.3_3'UTR	NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	154	Extracellular (Potential).				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CTCGCCCACCGTCAGGTGCCT	0.607													A	170597536	G	A	170597536	3	1	37	1	0	0	0	0	1	0	0	0	4566	1145	40	1	1742	1	DLL1	6	170597536	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2876264	170597536	517531	405	34470											
C7orf27	221927	broad.mit.edu	37	chr7	2578167	2578167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcagtgggtacgcggcgGccccaaagtctggcccagga	18	12	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:2578167G>A	uc003smi.2	-	14	2044	c.2002C>T	c.(2002-2004)CCG>TCG	p.P668S	C7orf27_uc003smh.3_Missense_Mutation_p.P100S	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	668					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		GTACGCGGCGGCCCCAAAGTC	0.716													A	2578167	G	A	2578167	3	1	37	1	0	0	0	0	1	0	0	0	2382	1203	42	2	467	2	C7orf27	7	2578167	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08		2578167	156560496	406	34471											
CARD11	84433	broad.mit.edu	37	chr7	2962848	2962848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcacgaagctccctcgcGcgttgccccccagcagggtg	13	16	0	0	rs41493047	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:2962848G>A	uc003smv.2	-	16	2464	c.2060C>T	c.(2059-2061)GCG>GTG	p.A687V		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	687	PDZ.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTCCCTCGCGCGTTGCCCCC	0.697			Mis		DLBCL								A	2962848	G	A	2962848	3	1	37	1	0	0	0	0	1	0	0	0	2645	1087	38	1	1444	1	CARD11	7	2962848	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	384681	2962848	156175815	407	34472											
KIAA0415	9907	broad.mit.edu	37	chr7	4830444	4830444	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgccctgcccaggtgTcccccccaggtggtcaccgt	11	18	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:4830444T>C	uc003sne.2	+	16	2162	c.2079T>C	c.(2077-2079)TGT>TGC	p.C693C	KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Silent_p.C170C	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	693					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		TGCCCAGGTGTCCCCCCCAGG	0.647													C	4830444	T	C	4830444	2	2	37	1	0	0	0	0	0	0	0	1	8175	1673	58	3		3	KIAA0415	7	4830444	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	1867596	4830444	154308219	408	34473											
FBXL18	80028	broad.mit.edu	37	chr7	5540477	5540477	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcttcagcagagaccagaAcacggaggagggctgggggc	17	9	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:5540477A>G	uc003soo.2	-	3	1517	c.1423T>C	c.(1423-1425)TTC>CTC	p.F475L	FBXL18_uc003son.3_Missense_Mutation_p.F475L	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	475	LRR 8.									central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		AGAGACCAGAACACGGAGGAG	0.657													G	5540477	A	G	5540477	3	3	37	1	0	0	0	0	1	0	0	0	5714	43	2	3	745	3	FBXL18	7	5540477	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	710033	5540477	153598186	409	34474											
ACTB	60	broad.mit.edu	37	chr7	5568135	5568137	+	In_Frame_Del	DEL	GAG	GAG	-													aagctgtagccgcgctcggtGaggatcttcatgaggtagtc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:5568135_5568137delGAG	uc003sos.3	-	3	613_615	c.577_579delCTC	c.(577-579)CTCdel	p.L193del	ACTB_uc003sor.3_In_Frame_Del_p.L71del|ACTB_uc003sot.3_In_Frame_Del_p.L193del|ACTB_uc003soq.3_In_Frame_Del_p.L71del|ACTB_uc010ksy.2_In_Frame_Del_p.L71del	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	193					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CGCGCTCGGTGAGGATCTTCATG	0.611													-	5568137	GAG	-	5568135	7	5	37	1	0	1	0	1	0	0	0	0	193	1277	45	0	560	0	ACTB	7	5568135	In_Frame_Del	DEL	GAG	TCGA-BR-6566-01A-11D-1800-08	27658	5568135	153570528	410	34475											
FERD3L	222894	broad.mit.edu	37	chr7	19184940	19184940	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggacaggtctgcgacgaAgtccagcaccgtagtgtcca	13	12	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:19184940A>C	uc003suo.1	-	1	105	c.46T>G	c.(46-48)TTC>GTC	p.F16V	uc003sun.1_RNA	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	16					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(1)	1						TCTGCGACGAAGTCCAGCACC	0.682													C	19184940	A	C	19184940	3	2	37	1	0	0	0	0	1	0	0	0	5816	72	3	5	458	5	FERD3L	7	19184940	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	13616805	19184940	139953723	411	34476											
OSBPL3	26031	broad.mit.edu	37	chr7	24839808	24839808	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctttactttttcaccaTaagacaggatggtccagttt	6	9	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:24839808T>C	uc003sxf.2	-	23	3063	c.2658A>G	c.(2656-2658)TTA>TTG	p.L886L	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Silent_p.L850L|OSBPL3_uc003sxh.2_Silent_p.L855L|OSBPL3_uc003sxi.2_Silent_p.L819L	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	886					lipid transport		lipid binding|protein binding			skin(1)	1						TTTTTCACCATAAGACAGGAT	0.383													C	24839808	T	C	24839808	2	2	37	1	0	0	0	0	0	0	0	1	11279	1403	49	3		3	OSBPL3	7	24839808	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	5654868	24839808	134298855	412	34477											
HOXA6	3203	broad.mit.edu	37	chr7	27185359	27185359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctttttccacttcatgCggcggttctggaaccagatc	8	12	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:27185359C>T	uc003syo.1	-	2	620	c.620G>A	c.(619-621)CGC>CAC	p.R207H	HOXA5_uc003syn.1_5'Flank|uc003syp.1_5'Flank	NM_024014	NP_076919	P31267	HXA6_HUMAN	homeobox A6	207	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						CCACTTCATGCGGCGGTTCTG	0.602													T	27185359	C	T	27185359	3	4	37	1	0	0	0	0	1	0	0	0	7296	768	27	1	85	1	HOXA6	7	27185359	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2345551	27185359	131953304	413	34478											
TRIL	9865	broad.mit.edu	37	chr7	28997405	28997405	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtactgcaggtccagccgTctgagctgccccagacggtg	13	13	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:28997405T>G	uc003szt.2	-	3	625	c.258A>C	c.(256-258)AGA>AGC	p.R86S	uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine rich repeats	86	LRR 2.|Extracellular (Potential).				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding				0						GGTCCAGCCGTCTGAGCTGCC	0.617													G	28997405	T	G	28997405	3	3	37	1	0	0	0	0	1	0	0	0	16482	1664	58	5	2181	5	TRIL	7	28997405	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	1812046	28997405	130141258	414	34479											
CPVL	54504	broad.mit.edu	37	chr7	29105640	29105640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttttaaaatgtcattaccGtgcaccgcaaaaagttatag	7	7	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:29105640G>A	uc003szv.2	-	10	1081	c.962C>T	c.(961-963)ACG>ATG	p.T321M	CPVL_uc003szw.2_Missense_Mutation_p.T321M|CPVL_uc003szx.2_Missense_Mutation_p.T321M	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	321					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2						TGTCATTACCGTGCACCGCAA	0.323													A	29105640	G	A	29105640	3	1	37	1	0	0	0	0	1	0	0	0	3835	1159	40	1	484	1	CPVL	7	29105640	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	108235	29105640	130033023	415	34480											
SFRP4	6424	broad.mit.edu	37	chr7	37951761	37951761	+	Frame_Shift_Del	DEL	G	G	-													catgatgagaacatcttgatGgggcaggatgtgtggacact							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:37951760_37951760TG>T	uc003tfo.4	-	3	1138	c.752_752CA>A	c.(751-753)catfs	p.H251fs		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	Homo sapiens secreted frizzled-related protein 4 (SFRP4), mRNA.	251	NTR.				Wnt receptor signaling pathway|brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of JNK cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AACATCTTGATGGGGCAGGAT	0.473													-	37951761	G	-	37951761	7	5	37	1	0	1	0	1	0	0	0	0	14163	1348	47	0	301	0	SFRP4	7	37951761	Frame_Shift_Del	DEL	G	TCGA-BR-6566-01A-11D-1800-08	8846121	37951761	121186902	416	34481											
VPS41	27072	broad.mit.edu	37	chr7	38810820	38810820	+	Frame_Shift_Del	DEL	T	T	-													gaatcttatgtcttttaataTttttttggctaatttcagct							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:38810819_38810819AT>A	uc003tgy.3	-	13	1190	c.1164_1164AT>T	c.(1162-1164)aatfs	p.N388fs	VPS41_uc003tgz.3_Frame_Shift_Del_p.N363fs|VPS41_uc010kxn.3_Frame_Shift_Del_p.N299fs	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	388					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding	p.N388Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GTCTTTTAATATTTTTTTGGC	0.279													-	38810820	T	-	38810820	7	5	37	1	0	1	0	1	0	0	0	0	17207	1493	52	0	1465	0	VPS41	7	38810820	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	859059	38810820	120327843	417	34482											
POU6F2	11281	broad.mit.edu	37	chr7	39472802	39472802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcccagggccagatcatcGccacagtcattgggaaccag	11	14	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:39472802G>A	uc003thb.1	+	7	1195	c.1153G>A	c.(1153-1155)GCC>ACC	p.A385T		NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	385	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						CCAGATCATCGCCACAGTCAT	0.602													A	39472802	G	A	39472802	3	1	37	1	0	0	0	0	1	0	0	0	12285	1087	38	1	1179	1	POU6F2	7	39472802	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	661982	39472802	119665861	418	34483											
CDK13	8621	broad.mit.edu	37	chr7	40102647	40102647	+	Frame_Shift_Del	DEL	A	A	-													tccttggcgaactcttcactAaaaaacctatatttcaagca							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:40102646_40102646TA>T	uc003thh.4	+	8	3009	c.2727_2727TA>T	c.(2725-2727)actfs	p.T909fs	CDK13_uc003thi.4_Frame_Shift_Del_p.T909fs|CDK13_uc011kbf.2_Frame_Shift_Del_p.T295fs|CDK13_uc003thj.3_5'UTR	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	909	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AACTCTTCACTAAAAAACCTA	0.333													-	40102647	A	-	40102647	7	5	37	1	0	1	0	1	0	0	0	0	3129	363	13	0	2762	0	CDK13	7	40102647	Frame_Shift_Del	DEL	A	TCGA-BR-6566-01A-11D-1800-08	629845	40102647	119036016	419	34484											
ZMIZ2	83637	broad.mit.edu	37	chr7	44802877	44802877	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcggaacttcagcagcggCaccatccctggcacccctgg	11	16	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:44802877C>T	uc003tlr.2	+	13	1848	c.1725C>T	c.(1723-1725)GGC>GGT	p.G575G	ZMIZ2_uc003tlq.2_Silent_p.G517G|ZMIZ2_uc003tls.2_Silent_p.G549G|ZMIZ2_uc003tlt.2_Silent_p.G198G|ZMIZ2_uc010kyj.2_Silent_p.G97G|ZMIZ2_uc003tlu.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	575					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						TCAGCAGCGGCACCATCCCTG	0.587													T	44802877	C	T	44802877	2	4	37	1	0	0	0	0	0	0	0	1	17694	697	25	2		2	ZMIZ2	7	44802877	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	4700230	44802877	114335786	420	34485											
TNS3	64759	broad.mit.edu	37	chr7	47344511	47344511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaggagggcgtcgaggacGcatcagcccggagcatcgtg	17	10	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:47344511G>A	uc003tnv.2	-	21	3108	c.2741C>T	c.(2740-2742)GCG>GTG	p.A914V	TNS3_uc003tnw.2_Missense_Mutation_p.A914V	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	914						focal adhesion	protein binding			ovary(4)	4						CGTCGAGGACGCATCAGCCCG	0.582													A	47344511	G	A	47344511	3	1	37	1	0	0	0	0	1	0	0	0	16341	1087	38	1	1640	1	TNS3	7	47344511	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2541634	47344511	111794152	421	34486											
COBL	23242	broad.mit.edu	37	chr7	51111346	51111346	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgacagcacctgcggggcTccatccgggctgcagtggct	14	14	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:51111346T>C	uc003tpr.3	-	8	1325	c.1140A>G	c.(1138-1140)GGA>GGG	p.G380G	COBL_uc003tps.2_Silent_p.G437G|COBL_uc011kcl.1_Silent_p.G380G|COBL_uc010kzc.2_Silent_p.G380G|COBL_uc003tpp.3_Silent_p.G166G|COBL_uc003tpq.3_Silent_p.G321G	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	380										skin(3)|ovary(2)	5	Glioma(55;0.08)					CCTGCGGGGCTCCATCCGGGC	0.632													C	51111346	T	C	51111346	2	2	37	1	0	0	0	0	0	0	0	1	3653	1538	54	3		3	COBL	7	51111346	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	3766835	51111346	108027317	422	34487											
KCTD7	154881	broad.mit.edu	37	chr7	66103382	66103382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgaagggcgagaaggtgCgccaagcgtttctgggactc	15	10	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:66103382C>T	uc003tve.2	+	3	619	c.457C>T	c.(457-459)CGC>TGC	p.R153C	RABGEF1_uc003tvf.2_5'UTR|KCTD7_uc003tvd.3_Missense_Mutation_p.R153C	NM_153033	NP_694578	Q96MP8	KCTD7_HUMAN	potassium channel tetramerisation domain	153						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)	3						CGAGAAGGTGCGCCAAGCGTT	0.582													T	66103382	C	T	66103382	3	4	37	1	0	0	0	0	1	0	0	0	8114	768	27	1	467	1	KCTD7	7	66103382	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	14992036	66103382	93035281	423	34488											
FZD9	8326	broad.mit.edu	37	chr7	72849399	72849399	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgaggccatcgaggcccaCggcagctatttccacatggc	11	15	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:72849399C>T	uc003tyb.2	+	1	1291	c.1062C>T	c.(1060-1062)CAC>CAT	p.H354H		NM_003508	NP_003499	O00144	FZD9_HUMAN	frizzled 9 precursor	354	Cytoplasmic (Potential).				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCGAGGCCCACGGCAGCTATT	0.642													T	72849399	C	T	72849399	2	4	37	1	0	0	0	0	0	0	0	1	6137	535	19	1		1	FZD9	7	72849399	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	6746017	72849399	86289264	424	34489											
WBSCR28	135886	broad.mit.edu	37	chr7	73275584	73275584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctgttgcaggttacgagGctctcagtgctggtgagtgg	15	8	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:73275584G>A	uc003tzk.2	+	1	96	c.60G>A	c.(58-60)AGG>AGA	p.R20R	RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_5'UTR	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	hypothetical protein LOC135886	20						integral to membrane				breast(1)	1		Lung NSC(55;0.159)				AGGTTACGAGGCTCTCAGTGC	0.642													A	73275584	G	A	73275584	2	1	37	1	0	0	0	0	0	0	0	1	17264	1194	42	2		2	WBSCR28	7	73275584	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	426185	73275584	85863079	425	34490											
CCDC146	57639	broad.mit.edu	37	chr7	76889459	76889459	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaggaagttgaaggcaaaCgagccttacttgaaatcaaa	9	6	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:76889459C>T	uc003uga.2	+	8	1019	c.892C>T	c.(892-894)CGA>TGA	p.R298*	CCDC146_uc010ldp.2_Nonsense_Mutation_p.R44*	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	298	Potential.									ovary(1)|central_nervous_system(1)	2		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TGAAGGCAAACGAGCCTTACT	0.363													T	76889459	C	T	76889459	4	4	37	1	0	0	0	0	0	1	0	0	2780	528	19	1	918	1	CCDC146	7	76889459	Nonsense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3613875	76889459	82249204	426	34491											
SEMA3D	223117	broad.mit.edu	37	chr7	84702392	84702392	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actctgatgaaatttgcacaTtctgtctgttgggcacaaaa	8	8	3	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:84702392T>C	uc003uic.2	-	4	421	c.381A>G	c.(379-381)GAA>GAG	p.E127E	SEMA3D_uc010led.2_Silent_p.E127E|SEMA3D_uc010lee.1_Silent_p.E127E	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	127	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						AATTTGCACATTCTGTCTGTT	0.343													C	84702392	T	C	84702392	2	2	37	1	0	0	0	0	0	0	0	1	14027	1490	52	3		3	SEMA3D	7	84702392	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	7812933	84702392	74436271	427	34492											
AKAP9	10142	broad.mit.edu	37	chr7	91631714	91631714	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatagaaatacttatagaggAaaatgaggacctcaaacaac	7	6	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:91631714A>G	uc003ulg.2	+	8	2708	c.2483A>G	c.(2482-2484)GAA>GGA	p.E828G	AKAP9_uc003ule.2_Missense_Mutation_p.E840G|AKAP9_uc003ulf.2_Missense_Mutation_p.E828G|AKAP9_uc003uli.2_Missense_Mutation_p.E453G	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	840	Glu-rich.|Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTATAGAGGAAAATGAGGAC	0.323			T	BRAF	papillary thyroid								G	91631714	A	G	91631714	3	3	37	1	0	0	0	0	1	0	0	0	459	246	9	3	2513	3	AKAP9	7	91631714	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	6929322	91631714	67506949	428	34493											
AKAP9	10142	broad.mit.edu	37	chr7	91732039	91732039	+	Frame_Shift_Del	DEL	G	G	-													ttggccctgcttgcccggatGggggggcagccagctttcac							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:91732038_91732038TG>T	uc003ulg.3	+	45	11453	c.11228_11228TG>T	c.(11227-11229)atgfs	p.M3743fs	AKAP9_uc003ulf.3_Frame_Shift_Del_p.M3735fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.M3366fs|AKAP9_uc003ulj.3_Frame_Shift_Del_p.M1513fs|AKAP9_uc003ull.3_Frame_Shift_Del_p.M639fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3747					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAG	0.537			T	BRAF	papillary thyroid								-	91732039	G	-	91732039	7	5	37	1	0	1	0	1	0	0	0	0	459	1348	47	0	11411	0	AKAP9	7	91732039	Frame_Shift_Del	DEL	G	TCGA-BR-6566-01A-11D-1800-08	100325	91732039	67406624	429	34494											
FAM133B	257415	broad.mit.edu	37	chr7	92208639	92208639	+	Frame_Shift_Del	DEL	T	T	-													ctttttacaaacctcattcaTtttttcttcaaattcagcca							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:92208639delT	uc003umc.2	-	3	294	c.193delA	c.(193-195)ATGfs	p.M65fs	FAM133B_uc003umb.2_Frame_Shift_Del_p.M55fs|FAM133B_uc003umd.2_RNA	NM_152789	NP_690002	Q5BKY9	F133B_HUMAN	hypothetical protein LOC257415 isoform 1	65	Lys-rich.									ovary(1)	1	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ACCTCATTCATTTTTTCTTCA	0.204													-	92208639	T	-	92208639	7	5	37	1	0	1	0	1	0	0	0	0	5444	1493	52	0	586	0	FAM133B	7	92208639	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	476600	92208639	66930024	430	34495											
CALCR	799	broad.mit.edu	37	chr7	93108738	93108738	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatccatcatcttctttcGtcctacgacgtaaagaaatg	6	11	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:93108738G>A	uc003umv.1	-	4	448	c.187C>T	c.(187-189)CGA>TGA	p.R63*	CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Nonsense_Mutation_p.R45*|CALCR_uc003umw.2_Nonsense_Mutation_p.R45*	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor isoform 2 precursor	45	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	p.R45*(1)		ovary(3)|lung(3)|skin(2)|pancreas(1)	9	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ATCTTCTTTCGTCCTACGACG	0.398													A	93108738	G	A	93108738	4	1	37	1	0	0	0	0	0	1	0	0	2579	1153	40	1	1387	1	CALCR	7	93108738	Nonsense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	900099	93108738	66029925	431	34496											
COL1A2	1278	broad.mit.edu	37	chr7	94034179	94034179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgctcgtggtccagctgGccctcctggcaaggctggtg	16	12	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:94034179G>A	uc003ung.1	+	9	878	c.407G>A	c.(406-408)GGC>GAC	p.G136D	COL1A2_uc011kib.1_Missense_Mutation_p.G136D|COL1A2_uc010lfh.1_5'Flank	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	136					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTCCAGCTGGCCCTCCTGGC	0.393										HNSCC(75;0.22)			A	94034179	G	A	94034179	3	1	37	1	0	0	0	0	1	0	0	0	3678	1203	42	2	441	2	COL1A2	7	94034179	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	925441	94034179	65104484	432	34497											
ZNF655	79027	broad.mit.edu	37	chr7	99170985	99170985	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtggaaaagctttcagTcaaacctcatgccttattca	7	9	4	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:99170985T>C	uc003urh.2	+	3	1647	c.1254T>C	c.(1252-1254)AGT>AGC	p.S418S	ZNF655_uc010lga.2_Silent_p.S453S|ZNF655_uc010lgc.2_Silent_p.S453S|ZNF655_uc003urj.2_Silent_p.S418S|ZNF655_uc003urk.2_Silent_p.S255S|ZNF655_uc010lgd.2_Silent_p.S255S	NM_138494	NP_612503	Q8N720	ZN655_HUMAN	zinc finger protein 655 isoform a	418	C2H2-type 6.				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AAGCTTTCAGTCAAACCTCAT	0.368													C	99170985	T	C	99170985	2	2	37	1	0	0	0	0	0	0	0	1	18065	1664	58	3		3	ZNF655	7	99170985	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	5136806	99170985	59967678	433	34498											
CYP3A7	1551	broad.mit.edu	37	chr7	99315250	99315250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatttttcataaatcccaCtggcccgaaaggctagagtt	9	10	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:99315250C>T	uc003uru.2	-	5	436	c.331G>A	c.(331-333)GTG>ATG	p.V111M	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	111					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					ATAAATCCCACTGGCCCGAAA	0.408													T	99315250	C	T	99315250	3	4	37	1	0	0	0	0	1	0	0	0	4181	565	20	4	1216	4	CYP3A7	7	99315250	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	144265	99315250	59823413	434	34499											
STAG3	10734	broad.mit.edu	37	chr7	99787211	99787211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagagcctgttggagaaaCgcaaagaggtgaggagtgtt	17	4	0	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:99787211C>T	uc003utx.1	+	8	1014	c.859C>T	c.(859-861)CGC>TGC	p.R287C	STAG3_uc010lgs.1_Missense_Mutation_p.R75C|STAG3_uc011kjk.1_Missense_Mutation_p.R229C	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	287					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTTGGAGAAACGCAAAGAGGT	0.552													T	99787211	C	T	99787211	3	4	37	1	0	0	0	0	1	0	0	0	15243	536	19	1	885	1	STAG3	7	99787211	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	471961	99787211	59351452	435	34500											
PILRB	29990	broad.mit.edu	37	chr7	99955941	99955949	+	In_Frame_Del	DEL	CTGCTGCCC	CTGCTGCCC	-													aggccatgggtcggcccctgCtgctgcccctgctgctcctg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:99955940_99955948GCTGCTGCCC>G	uc022aim.1	+	5	1087_1095	c.15_23GCTGCTGCCC>G	c.(13-24)ctgctgctgccc>ctGc	p.LLP6del	PILRB_uc003uum.1_Non-coding_Transcript|PILRB_uc003uun.3_In_Frame_Del_p.LLP6del	NM_178238	NP_839956	Q9UKJ0	PILRB_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 3, mRNA.	6					activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCGGCCCCTGCTGCTGCCCCTGCTGCTC	0.675													-	99955949	CTGCTGCCC	-	99955941	7	5	37	1	0	1	0	1	0	0	0	0	11926	796	28	0	18	0	PILRB	7	99955941	In_Frame_Del	DEL	CTGCTGCCC	TCGA-BR-6566-01A-11D-1800-08	168730	99955941	59182722	436	34501											
EPHB4	2050	broad.mit.edu	37	chr7	100410518	100410518	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctcagaaactcacgccgctGccgctccgtgtagccaccct	9	18	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:100410518G>C	uc003uwn.1	-	12	2460	c.1969C>G	c.(1969-1971)CAG>GAG	p.Q657E	EPHB4_uc003uwm.1_Missense_Mutation_p.Q564E|EPHB4_uc010lhj.1_Missense_Mutation_p.Q657E	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	657	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCACGCCGCTGCCGCTCCGTG	0.627													C	100410518	G	C	100410518	3	2	37	1	0	0	0	0	1	0	0	0	5177	1328	46	5	1018	5	EPHB4	7	100410518	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	454577	100410518	58728145	437	34502											
EPHB4	2050	broad.mit.edu	37	chr7	100416267	100416267	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcagacactgcaggaggtaCtgtgagaggcagagacacag	15	8	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:100416267C>G	uc003uwn.1	-	7	1789	c.1298_splice	c.e7-1	p.V433_splice	EPHB4_uc003uwm.1_Splice_Site_p.V340_splice|EPHB4_uc010lhj.1_Splice_Site_p.V433_splice|EPHB4_uc011kkf.1_Splice_Site_p.V433_splice|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Intron	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor						cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCAGGAGGTACTGTGAGAGGC	0.483													G	100416267	C	G	100416267	5	3	37	1	0	0	0	0	0	0	1	0	5177	579	20	5	1710	5	EPHB4	7	100416267	Splice_Site	SNP	C	TCGA-BR-6566-01A-11D-1800-08	5749	100416267	58722396	438	34503											
SRRT	51593	broad.mit.edu	37	chr7	100484536	100484539	+	Frame_Shift_Del	DEL	AAGG	AAGG	-													ctcctcctgaggagcctcctAaggaagggaacccggcagag							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:100484535_100484538TAAGG>T	uc003uwy.2	+	13	2034_2037	c.1767_1770TAAGG>T	c.(1765-1770)cctaagfs	p.P589fs	SRRT_uc010lhl.1_Frame_Shift_Del_p.P588fs|SRRT_uc003uxa.2_Frame_Shift_Del_p.P588fs|SRRT_uc003uwz.2_Frame_Shift_Del_p.P589fs	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	589					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGGAGCCTCCTAAGGAAGGGAACC	0.632													-	100484539	AAGG	-	100484536	7	5	37	1	0	1	0	1	0	0	0	0	15171	363	13	0	1818	0	SRRT	7	100484536	Frame_Shift_Del	DEL	AAGG	TCGA-BR-6566-01A-11D-1800-08	68269	100484536	58654127	439	34504											
FBXL13	222235	broad.mit.edu	37	chr7	102604067	102604067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacctttgcaaagtagacaCtatatatttatctggaatca	5	9	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:102604067C>T	uc003vaq.2	-	8	1064	c.637G>A	c.(637-639)GTG>ATG	p.V213M	FBXL13_uc010liq.1_Missense_Mutation_p.V28M|FBXL13_uc010lir.1_Missense_Mutation_p.V213M|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.V213M|FBXL13_uc003vav.2_RNA	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	213											0						AAAGTAGACACTATATATTTA	0.289													T	102604067	C	T	102604067	3	4	37	1	0	0	0	0	1	0	0	0	5709	565	20	4	1622	4	FBXL13	7	102604067	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2119531	102604067	56534596	440	34505											
DNAJC2	27000	broad.mit.edu	37	chr7	102964992	102964993	+	Frame_Shift_Ins	INS	-	-	T													atcaccaagtttaggaacatINStttttttatttgaccatctg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:102964991_102964992A>AT	uc003vbo.3	-	5	841_842	c.590_591T>AT	c.(589-591)aatfs	p.N197fs	PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.3_5'UTR|DNAJC2_uc010lix.3_Frame_Shift_Ins_p.N197fs|DNAJC2_uc003vbp.3_5'UTR|DNAJC2_uc003vbq.1_Non-coding_Transcript	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 2 (DNAJC2), transcript variant 1, mRNA.	197	ZRF1-UBD.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	DNA binding|Hsp70 protein binding|chromatin binding|histone binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						GTTTAGGAACATTTTTTTTATT	0.238													T	102964993	-	T	102964992	7	5	37	1	0	1	1	0	0	0	0	0	4639	1493	52	0	1323	0	DNAJC2	7	102964992	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	360925	102964992	56173671	441	34506											
PSMC2	5701	broad.mit.edu	37	chr7	102996164	102996164	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaaagaatctgacactggcCtggccccaccagcactctgg	9	14	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:102996164C>A	uc003vbs.2	+	4	284	c.214C>A	c.(214-216)CTG>ATG	p.L72M	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011kln.1_Missense_Mutation_p.L72M|PSMC2_uc011klo.1_Intron	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	72					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0						TGACACTGGCCTGGCCCCACC	0.413													A	102996164	C	A	102996164	3	1	37	1	0	0	0	0	1	0	0	0	12686	680	24	5	228	5	PSMC2	7	102996164	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	31172	102996164	56142499	442	34507											
PRKAR2B	5577	broad.mit.edu	37	chr7	106799947	106799948	+	Frame_Shift_Ins	INS	-	-	A													accttgcatggaaattatgaINSaaaggaacatcgctacctat					rs79974757		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:106799946_106799947G>GA	uc003vdx.3	+	10	1351_1352	c.1176_1177G>GA	c.(1174-1179)atgaaafs	p.M392fs		NM_002736	NP_002727	P31323	KAP3_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, beta (PRKAR2B), mRNA.	392					G2/M transition of mitotic cell cycle|activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						TGGAAATTATGAAAAGGAACAT	0.381													A	106799948	-	A	106799947	7	5	37	1	0	1	1	0	0	0	0	0	12506	247	9	0	1219	0	PRKAR2B	7	106799947	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	3803783	106799947	52338716	443	34508											
PNPLA8	50640	broad.mit.edu	37	chr7	108119718	108119718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcacatcactctcataacGtccagtgcccagggatacta	6	14	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:108119718G>A	uc003vff.1	-	11	2391	c.1984C>T	c.(1984-1986)CGT>TGT	p.R662C	PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.R662C|PNPLA8_uc003vfi.1_Missense_Mutation_p.R562C|PNPLA8_uc003vfj.1_Missense_Mutation_p.R662C|PNPLA8_uc003vfk.1_Missense_Mutation_p.R562C	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	662					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(2)	2						CTCTCATAACGTCCAGTGCCC	0.418													A	108119718	G	A	108119718	3	1	37	1	0	0	0	0	1	0	0	0	12171	1145	40	1	372	1	PNPLA8	7	108119718	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1319771	108119718	51018945	444	34509											
GPR85	54329	broad.mit.edu	37	chr7	112724532	112724532	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtccaggtagaaccatttTtgacagagttgaacacaaat	8	7	0	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:112724532T>C	uc010ljv.2	-	2	762	c.245A>G	c.(244-246)AAA>AGA	p.K82R	GPR85_uc003vgp.1_Missense_Mutation_p.K82R|GPR85_uc003vgq.2_Missense_Mutation_p.K82R|GPR85_uc010ljw.1_Missense_Mutation_p.K82R	NM_001146266	NP_001139738	P60893	GPR85_HUMAN	G protein-coupled receptor 85	82	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)	2						AGAACCATTTTTGACAGAGTT	0.433													C	112724532	T	C	112724532	3	2	37	1	0	0	0	0	1	0	0	0	6715	1841	64	3	871	3	GPR85	7	112724532	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	4604814	112724532	46414131	445	34510											
MET	4233	broad.mit.edu	37	chr7	116423356	116423356	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataatttttgtcctttctgtAggctggatgaaaaattcaca	7	6	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:116423356A>G	uc003vij.2	+	19	3820	c.3633_splice	c.e19-2	p.M1211_splice	MET_uc010lkh.2_Splice_Site_p.M1229_splice|MET_uc011knj.1_Splice_Site_p.M781_splice	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor						axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCCTTTCTGTAGGCTGGATGA	0.348			Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				G	116423356	A	G	116423356	5	3	37	1	0	0	0	0	0	0	1	0	9485	434	15	3	3755	3	MET	7	116423356	Splice_Site	SNP	A	TCGA-BR-6566-01A-11D-1800-08	3698824	116423356	42715307	446	34511											
SPAM1	6677	broad.mit.edu	37	chr7	123593877	123593877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccgaataaacgccaccGggcaaggtgttacaatattt	9	12	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:123593877G>A	uc003vld.2	+	4	655	c.253G>A	c.(253-255)GGG>AGG	p.G85R	SPAM1_uc003vle.2_Missense_Mutation_p.G85R|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.G85R|SPAM1_uc010lku.2_Missense_Mutation_p.G85R	NM_153189	NP_694859	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 2	85					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)	AAACGCCACCGGGCAAGGTGT	0.433													A	123593877	G	A	123593877	3	1	37	1	0	0	0	0	1	0	0	0	14986	1116	39	1	255	1	SPAM1	7	123593877	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	7170521	123593877	35544786	447	34512											
SPAM1	6677	broad.mit.edu	37	chr7	123594152	123594152	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattggttcagcaacaaaaTgtacaacttagtctcacaga	7	8	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:123594152T>C	uc003vld.2	+	4	930	c.528T>C	c.(526-528)AAT>AAC	p.N176N	SPAM1_uc003vle.2_Silent_p.N176N|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Silent_p.N176N|SPAM1_uc010lku.2_Silent_p.N176N	NM_153189	NP_694859	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 2	176					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)	AGCAACAAAATGTACAACTTA	0.388													C	123594152	T	C	123594152	2	2	37	1	0	0	0	0	0	0	0	1	14986	1461	51	3		3	SPAM1	7	123594152	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	275	123594152	35544511	448	34513											
C7orf45	136263	broad.mit.edu	37	chr7	129847757	129847757	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcaaggagtcatcatgggaGaccttttttccttattttgg	10	7	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:129847757G>T	uc003vpp.2	+	1	54	c.7G>T	c.(7-9)GAC>TAC	p.D3Y	TMEM209_uc003vpn.2_5'Flank|TMEM209_uc010lmc.1_5'Flank|TMEM209_uc003vpo.2_5'Flank	NM_145268	NP_660311	Q8WWF3	CG045_HUMAN	hypothetical protein LOC136263	3						integral to membrane					0	Melanoma(18;0.0435)					CATCATGGGAGACCTTTTTTC	0.413													T	129847757	G	T	129847757	3	4	37	1	0	0	0	0	1	0	0	0	2395	942	33	5	9	5	C7orf45	7	129847757	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	6253605	129847757	29290906	449	34514											
WDR91	29062	broad.mit.edu	37	chr7	134873256	134873256	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagagtagacctccccgtAgtgggccctccagctcatcg	10	16	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:134873256A>G	uc003vsp.2	-	13	1872	c.1810T>C	c.(1810-1812)TAC>CAC	p.Y604H	WDR91_uc010lmq.2_Missense_Mutation_p.Y193H|WDR91_uc010lmr.2_Intron	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	WD repeat domain 91	604	WD 5.									breast(2)|ovary(1)|skin(1)	4						ACCTCCCCGTAGTGGGCCCTC	0.522													G	134873256	A	G	134873256	3	3	37	1	0	0	0	0	1	0	0	0	17335	420	15	3	445	3	WDR91	7	134873256	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	5025499	134873256	24265407	450	34515											
SLC13A4	26266	broad.mit.edu	37	chr7	135370367	135370367	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcatgccagcagggtgacaGcccacggtgggaggctgctc	16	12	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:135370367G>T	uc003vta.2	-	14	2197	c.1508C>A	c.(1507-1509)GCT>GAT	p.A503D	SLC13A4_uc003vtb.2_Missense_Mutation_p.A504D|PL-5283_uc003vsz.3_Intron	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate	503	Helical; (Potential).					integral to plasma membrane	sodium:sulfate symporter activity				0						CAGGGTGACAGCCCACGGTGG	0.547													T	135370367	G	T	135370367	3	4	37	1	0	0	0	0	1	0	0	0	14394	971	34	5	384	5	SLC13A4	7	135370367	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	497111	135370367	23768296	451	34516											
CREB3L2	64764	broad.mit.edu	37	chr7	137612997	137612997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctggatgagaggcgccGgggacgtcggggaaggttcc	19	10	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:137612997G>A	uc003vtw.2	-	2	613	c.218C>T	c.(217-219)CCG>CTG	p.P73L	CREB3L2_uc003vtx.1_Missense_Mutation_p.P73L|CREB3L2_uc003vty.3_Missense_Mutation_p.P73L|CREB3L2_uc003vtv.2_Missense_Mutation_p.P10L	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like	73	Cytoplasmic (Potential).				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160						GAGAGGCGCCGGGGACGTCGG	0.577			T	FUS	fibromyxoid sarcoma								A	137612997	G	A	137612997	3	1	37	1	0	0	0	0	1	0	0	0	3857	1116	39	1	1388	1	CREB3L2	7	137612997	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2242630	137612997	21525666	452	34517											
OR2F2	135948	broad.mit.edu	37	chr7	143632486	143632486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgatcagactggacagccGactccacactcccatgtatt	7	14	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:143632486G>A	uc011ktv.1	+	1	161	c.161G>A	c.(160-162)CGA>CAA	p.R54Q		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F,	54	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	Melanoma(164;0.0903)					CTGGACAGCCGACTCCACACT	0.507													A	143632486	G	A	143632486	3	1	37	1	0	0	0	0	1	0	0	0	10997	1058	37	1	163	1	OR2F2	7	143632486	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	6019489	143632486	15506177	453	34518											
CNTNAP2	26047	broad.mit.edu	37	chr7	147092860	147092860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagcattgacatgtgtgCgatcatagacaggtaaatga	11	6	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:147092860C>T	uc003weu.1	+	10	2174	c.1658C>T	c.(1657-1659)GCG>GTG	p.A553V		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	553	Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GACATGTGTGCGATCATAGAC	0.428										HNSCC(39;0.1)			T	147092860	C	T	147092860	3	4	37	1	0	0	0	0	1	0	0	0	3647	768	27	1	1696	1	CNTNAP2	7	147092860	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3460374	147092860	12045803	454	34519											
ZNF786	136051	broad.mit.edu	37	chr7	148767858	148767858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcttctctcccgtgtgcGttctgatgtgctcgatgagc	12	11	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:148767858G>A	uc003wfh.2	-	4	2143	c.2006C>T	c.(2005-2007)ACG>ATG	p.T669M	ZNF786_uc011kuk.1_Missense_Mutation_p.T632M|ZNF786_uc003wfi.2_Missense_Mutation_p.T583M	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	669	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCCCGTGTGCGTTCTGATGTG	0.577													A	148767858	G	A	148767858	3	1	37	1	0	0	0	0	1	0	0	0	18155	1145	40	1	346	1	ZNF786	7	148767858	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1674998	148767858	10370805	455	34520											
ZNF398	57541	broad.mit.edu	37	chr7	148876830	148876830	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaacttctggcctgggtgtCaacactgaaggtctagagac	12	9	3	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:148876830C>T	uc003wfl.2	+	6	2141	c.1866C>T	c.(1864-1866)GTC>GTT	p.V622V	ZNF398_uc011kul.1_Silent_p.V451V|ZNF398_uc011kum.1_Silent_p.V627V	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	zinc finger 398 isoform a	622					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GCCTGGGTGTCAACACTGAAG	0.532													T	148876830	C	T	148876830	2	4	37	1	0	0	0	0	0	0	0	1	17882	813	29	4		4	ZNF398	7	148876830	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	108972	148876830	10261833	456	34521											
ZNF467	168544	broad.mit.edu	37	chr7	149463148	149463148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggaccccacccagacagcGcgagcccactcagtgccccc	9	21	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:149463148G>A	uc003wgd.2	-	5	584	c.443C>T	c.(442-444)GCG>GTG	p.A148V	ZNF467_uc003wgc.2_Intron	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCAGACAGCGCGAGCCCACT	0.692													A	149463148	G	A	149463148	3	1	37	1	0	0	0	0	1	0	0	0	17924	1087	38	1	1348	1	ZNF467	7	149463148	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	586318	149463148	9675515	457	34522											
ZNF467	168544	broad.mit.edu	37	chr7	149463207	149463207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtacgcggcagccagatgCcccaggtcaggcgcgggaaa	15	12	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:149463207C>T	uc003wgd.2	-	5	525	c.384G>A	c.(382-384)GGG>GGA	p.G128G	ZNF467_uc003wgc.2_Intron	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGCCAGATGCCCCAGGTCAG	0.652													T	149463207	C	T	149463207	2	4	37	1	0	0	0	0	0	0	0	1	17924	726	26	2		2	ZNF467	7	149463207	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	59	149463207	9675456	458	34523											
GIMAP7	168537	broad.mit.edu	37	chr7	150217549	150217549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcaaggagtgcgggaacCgctgctgtgcctttagcaac	13	11	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:150217549C>T	uc003whk.2	+	2	617	c.487C>T	c.(487-489)CGC>TGC	p.R163C		NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	163							GTP binding			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGCGGGAACCGCTGCTGTGC	0.502													T	150217549	C	T	150217549	3	4	37	1	0	0	0	0	1	0	0	0	6384	652	23	1	489	1	GIMAP7	7	150217549	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	754342	150217549	8921114	459	34524											
SLC4A2	6522	broad.mit.edu	37	chr7	150772823	150772823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctgcatctgctgctcatGccgcccaaacaccacccaga	8	18	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:150772823G>A	uc003wit.3	+	21	3688	c.3432G>A	c.(3430-3432)ATG>ATA	p.M1144I	SLC4A2_uc011kve.1_Missense_Mutation_p.M1135I|SLC4A2_uc003wiu.3_Missense_Mutation_p.M1130I|SLC4A2_uc003wiv.3_Missense_Mutation_p.M338I|uc011kvf.1_Intron	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	1144	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTGCTCATGCCGCCCAAAC	0.587													A	150772823	G	A	150772823	3	1	37	1	0	0	0	0	1	0	0	0	14654	1319	46	2	3510	2	SLC4A2	7	150772823	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	555274	150772823	8365840	460	34525											
FASTK	10922	broad.mit.edu	37	chr7	150774416	150774416	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgcagtagcctggaggCacagtcaggtcctggcggta	15	11	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:150774416C>T	uc003wix.1	-	7	1370	c.1272G>A	c.(1270-1272)GTG>GTA	p.V424V	uc011kvf.1_5'Flank|FASTK_uc003wiw.1_Silent_p.V185V|FASTK_uc003wiy.1_Silent_p.V283V|FASTK_uc003wiz.1_Silent_p.V397V|FASTK_uc003wja.1_3'UTR	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase isoform 1	424			V -> L (in a lung adenocarcinoma sample; somatic mutation).		apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	p.V424L(2)		lung(2)|stomach(2)	4			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		AGCCTGGAGGCACAGTCAGGT	0.562													T	150774416	C	T	150774416	2	4	37	1	0	0	0	0	0	0	0	1	5684	697	25	2		2	FASTK	7	150774416	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1593	150774416	8364247	461	34526											
MLL3	58508	broad.mit.edu	37	chr7	151856107	151856107	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctccatctgtttttggCaactggttgccacatccaaa	6	13	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:151856107C>T	uc003wla.2	-	44	11730	c.11511G>A	c.(11509-11511)TTG>TTA	p.L3837L	MLL3_uc003wkz.2_Silent_p.L2898L|MLL3_uc003wkx.2_5'Flank|MLL3_uc003wky.2_Silent_p.L1346L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3837					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CTGTTTTTGGCAACTGGTTGC	0.433			N		medulloblastoma								T	151856107	C	T	151856107	2	4	37	1	0	0	0	0	0	0	0	1	9622	709	25	2		2	MLL3	7	151856107	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1081691	151856107	7282556	462	34527											
MLL3	58508	broad.mit.edu	37	chr7	151878420	151878420	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggggtttggggctgctgActatatgggtcaacagtagt	15	6	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:151878420A>G	uc003wla.2	-	36	6744	c.6525T>C	c.(6523-6525)AGT>AGC	p.S2175S	MLL3_uc003wkz.2_Silent_p.S1236S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2175	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGGGCTGCTGACTATATGGGT	0.463			N		medulloblastoma								G	151878420	A	G	151878420	2	3	37	1	0	0	0	0	0	0	0	1	9622	272	10	3		3	MLL3	7	151878420	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	22313	151878420	7260243	463	34528											
DPP6	1804	broad.mit.edu	37	chr7	154681010	154681010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagcccatcgagtctccgCgctggaagaacagcagttcc	12	13	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:154681010C>T	uc003wlk.2	+	24	2462	c.2333C>T	c.(2332-2334)GCG>GTG	p.A778V	DPP6_uc003wli.2_Missense_Mutation_p.A714V|DPP6_uc003wlm.2_Missense_Mutation_p.A716V|DPP6_uc011kvq.1_Missense_Mutation_p.A671V	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	778	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CGAGTCTCCGCGCTGGAAGAA	0.537													T	154681010	C	T	154681010	3	4	37	1	0	0	0	0	1	0	0	0	4730	768	27	1	2543	1	DPP6	7	154681010	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2802590	154681010	4457653	464	34529											
NOM1	64434	broad.mit.edu	37	chr7	156755705	156755705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctctcttcatcaggtcCgcaacgccggctcaggttct	8	15	7	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:156755705C>T	uc003wmy.2	+	6	1762	c.1747C>T	c.(1747-1749)CGC>TGC	p.R583C	NOM1_uc010lqp.1_Missense_Mutation_p.R32C	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	583					RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TCATCAGGTCCGCAACGCCGG	0.527													T	156755705	C	T	156755705	3	4	37	1	0	0	0	0	1	0	0	0	10530	652	23	1	1769	1	NOM1	7	156755705	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2074695	156755705	2382958	465	34530											
PTPRN2	5799	broad.mit.edu	37	chr7	157414084	157414084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagggagcggttcttggGcacgttctcctccctctggg	15	13	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:157414084G>A	uc003wno.2	-	15	2435	c.2314C>T	c.(2314-2316)CCC>TCC	p.P772S	PTPRN2_uc003wnp.2_Missense_Mutation_p.P755S|PTPRN2_uc003wnq.2_Missense_Mutation_p.P743S|PTPRN2_uc003wnr.2_Missense_Mutation_p.P734S|PTPRN2_uc011kwa.1_Missense_Mutation_p.P795S	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	772	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CGGTTCTTGGGCACGTTCTCC	0.647													A	157414084	G	A	157414084	3	1	37	1	0	0	0	0	1	0	0	0	12808	1203	42	2	769	2	PTPRN2	7	157414084	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	658379	157414084	1724579	466	34531											
ZNF596	169270	broad.mit.edu	37	chr8	196026	196026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagaaaccatatgagtgCcatgtatgtgggaaagcctt	13	6	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:196026C>T	uc003wot.2	+	6	1467	c.1179C>T	c.(1177-1179)TGC>TGT	p.C393C	ZNF596_uc003wou.2_Silent_p.C292C|ZNF596_uc003wov.2_Silent_p.C393C|ZNF596_uc003wow.2_Silent_p.C393C	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	393	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		CATATGAGTGCCATGTATGTG	0.428													T	196026	C	T	196026	2	4	37	1	0	0	0	0	0	0	0	1	18023	747	26	2		2	ZNF596	8	196026	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08		196026	146167996	467	34532											
MYOM2	9172	broad.mit.edu	37	chr8	2072088	2072088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggcaatgagtagagtctGtggtaagtaaatgcctttta	11	4	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:2072088G>A	uc003wpx.3	+	31	3830	c.3692G>A	c.(3691-3693)TGT>TAT	p.C1231Y	MYOM2_uc011kwi.1_Missense_Mutation_p.C656Y	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	1231					muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AGTAGAGTCTGTGGTAAGTAA	0.408													A	2072088	G	A	2072088	3	1	37	1	0	0	0	0	1	0	0	0	10092	1377	48	4	3810	4	MYOM2	8	2072088	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1876062	2072088	144291934	468	34533											
CSMD1	64478	broad.mit.edu	37	chr8	2836280	2836280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagttctgttgcccgtgaCgaatggcattttccacaaag	11	9	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:2836280C>T	uc011kwk.1	-	55	8813	c.8423G>A	c.(8422-8424)CGT>CAT	p.R2808H	CSMD1_uc011kwj.1_Missense_Mutation_p.R2137H|CSMD1_uc010lrg.2_Missense_Mutation_p.R818H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2808	Extracellular (Potential).|Sushi 20.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTGCCCGTGACGAATGGCATT	0.403													T	2836280	C	T	2836280	3	4	37	1	0	0	0	0	1	0	0	0	3944	536	19	1	2338	1	CSMD1	8	2836280	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	764192	2836280	143527742	469	34534											
RHOBTB2	23221	broad.mit.edu	37	chr8	22864845	22864845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccggtcctgctggcctcCgtgcttccaccagcgacggg	13	17	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:22864845C>T	uc003xcq.2	+	5	1624	c.1087C>T	c.(1087-1089)CGT>TGT	p.R363C	RHOBTB2_uc003xcp.2_Missense_Mutation_p.R385C|RHOBTB2_uc011kzp.1_Missense_Mutation_p.R370C|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	363	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGCTGGCCTCCGTGCTTCCAC	0.592													T	22864845	C	T	22864845	3	4	37	1	0	0	0	0	1	0	0	0	13334	652	23	1	1186	1	RHOBTB2	8	22864845	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	20028565	22864845	123499177	470	34535											
ADAM28	10863	broad.mit.edu	37	chr8	24167473	24167474	+	Frame_Shift_Ins	INS	-	-	A													aattgcagtgctttatttgaINSaaaaaaacaagtaagtatct							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:24167472_24167473G>GA	uc003xdy.3	+	2	299_300	c.216_217G>GA	c.(214-219)ttgaaafs	p.L72fs	ADAM28_uc003xdx.3_Frame_Shift_Ins_p.L72fs|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	72					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGCTTTATTTGAAAAAAAACAA	0.332													A	24167474	-	A	24167473	7	5	37	1	0	1	1	0	0	0	0	0	246	247	9	0	227	0	ADAM28	8	24167473	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	1302628	24167473	122196549	471	34536											
TRIM35	23087	broad.mit.edu	37	chr8	27145611	27145611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcagacacggagagccagCcagctgcggtgttggggtca	16	11	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:27145611C>T	uc003xfl.1	-	6	1020	c.938G>A	c.(937-939)GGC>GAC	p.G313D	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	tripartite motif-containing 35 isoform 2	313	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding				0		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GGAGAGCCAGCCAGCTGCGGT	0.612													T	27145611	C	T	27145611	3	4	37	1	0	0	0	0	1	0	0	0	16506	739	26	2	547	2	TRIM35	8	27145611	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2978138	27145611	119218411	472	34537											
TRIM35	23087	broad.mit.edu	37	chr8	27151667	27151667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcatgtgccagcacctccGtctcctctgtgagctgcttc	8	16	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:27151667G>A	uc003xfl.1	-	3	774	c.692C>T	c.(691-693)ACG>ATG	p.T231M	TRIM35_uc010lup.1_Missense_Mutation_p.T199M|TRIM35_uc003xfm.1_RNA	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	tripartite motif-containing 35 isoform 2	231	Potential.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding				0		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CAGCACCTCCGTCTCCTCTGT	0.552													A	27151667	G	A	27151667	3	1	37	1	0	0	0	0	1	0	0	0	16506	1145	40	1	805	1	TRIM35	8	27151667	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	6056	27151667	119212355	473	34538											
SCARA5	286133	broad.mit.edu	37	chr8	27779531	27779531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcggtctgcaccgcctgcGcctgcagcccccacagcgcg	12	20	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:27779531G>A	uc003xgj.2	-	4	913	c.473C>T	c.(472-474)GCG>GTG	p.A158V	SCARA5_uc010luz.2_Intron|SCARA5_uc003xgk.2_Missense_Mutation_p.A115V|SCARA5_uc003xgl.2_Missense_Mutation_p.A158V	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	158	Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CACCGCCTGCGCCTGCAGCCC	0.721													A	27779531	G	A	27779531	3	1	37	1	0	0	0	0	1	0	0	0	13880	1087	38	1	1038	1	SCARA5	8	27779531	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	627864	27779531	118584491	474	34539											
DUSP4	1846	broad.mit.edu	37	chr8	29195908	29195908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaagtggtttgggcagtcCgaggagacattcaacagagc	13	8	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:29195908C>T	uc003xhm.2	-	3	1080	c.690G>A	c.(688-690)TCG>TCA	p.S230S	DUSP4_uc003xhl.2_Silent_p.S139S	NM_001394	NP_001385	Q13115	DUS4_HUMAN	dual specificity phosphatase 4 isoform 1	230	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			lung(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		TTGGGCAGTCCGAGGAGACAT	0.552													T	29195908	C	T	29195908	2	4	37	1	0	0	0	0	0	0	0	1	4827	639	23	1		1	DUSP4	8	29195908	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1416377	29195908	117168114	475	34540											
FGFR1	2260	broad.mit.edu	37	chr8	38275456	38275456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccagcccgatagcctctGccaacaccacctgcccaaag	7	18	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:38275456G>A	uc003xlp.2	-	12	2426	c.1484C>T	c.(1483-1485)GCA>GTA	p.A495V	FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Missense_Mutation_p.A493V|FGFR1_uc011lbp.1_Missense_Mutation_p.A406V|FGFR1_uc011lbq.1_Missense_Mutation_p.A404V|FGFR1_uc010lwk.2_Missense_Mutation_p.A485V	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	495	Cytoplasmic (Potential).|Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GATAGCCTCTGCCAACACCAC	0.522		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						A	38275456	G	A	38275456	3	1	37	1	0	0	0	0	1	0	0	0	5863	1319	46	2	1016	2	FGFR1	8	38275456	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	9079548	38275456	108088566	476	34541											
ADAM32	203102	broad.mit.edu	37	chr8	39131857	39131857	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcagaaggcagcactcagaCatatgccagccagtaagtag	10	11	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:39131857C>G	uc003xmt.3	+	21	2473	c.2228C>G	c.(2227-2229)ACA>AGA	p.T743R	ADAM32_uc011lch.1_Missense_Mutation_p.T644R|ADAM32_uc003xmu.3_Intron|ADAM32_uc003xmv.2_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	a disintegrin and metalloprotease domain 32	743	Cytoplasmic (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AGCACTCAGACATATGCCAGC	0.308													G	39131857	C	G	39131857	3	3	37	1	0	0	0	0	1	0	0	0	249	478	17	5	2310	5	ADAM32	8	39131857	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	856401	39131857	107232165	477	34542											
POLB	5423	broad.mit.edu	37	chr8	42207582	42207582	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgactcgagttagtggcattGggtaagaactattttttaag	11	4	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:42207582G>T	uc003xoz.1	+	5	432	c.319G>T	c.(319-321)GGT>TGT	p.G107C	POLB_uc003xpa.1_Missense_Mutation_p.G107C|POLB_uc011lcs.1_Intron	NM_002690	NP_002681	P06746	DPOLB_HUMAN	DNA-directed DNA polymerase beta	107					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			ovary(1)|breast(1)	2	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	TAGTGGCATTGGGTAAGAACT	0.348								DNA_polymerases_(catalytic_subunits)					T	42207582	G	T	42207582	3	4	37	1	0	0	0	0	1	0	0	0	12189	1362	47	5	337	5	POLB	8	42207582	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3075725	42207582	104156440	478	34543											
HOOK3	84376	broad.mit.edu	37	chr8	42812260	42812260	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgagtaaagaatctcctgtCtctgctggaaatgatgccta	9	8	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:42812260C>T	uc003xpr.2	+	7	734	c.492C>T	c.(490-492)GTC>GTT	p.V164V	HOOK3_uc010lxq.1_Silent_p.V164V	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	164	Sufficient for interaction with microtubules.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AATCTCCTGTCTCTGCTGGAA	0.303			T	RET	papillary thyroid								T	42812260	C	T	42812260	2	4	37	1	0	0	0	0	0	0	0	1	7284	900	32	4		4	HOOK3	8	42812260	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	604678	42812260	103551762	479	34544											
HOOK3	84376	broad.mit.edu	37	chr8	42821647	42821647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaagatgattatcgaataCgttgtgaagagttagaaaag	10	4	0	5			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:42821647C>T	uc003xpr.2	+	10	1053	c.811C>T	c.(811-813)CGT>TGT	p.R271C	HOOK3_uc010lxq.1_Missense_Mutation_p.R271C	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	271	Potential.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TTATCGAATACGTTGTGAAGA	0.398			T	RET	papillary thyroid								T	42821647	C	T	42821647	3	4	37	1	0	0	0	0	1	0	0	0	7284	536	19	1	849	1	HOOK3	8	42821647	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	9387	42821647	103542375	480	34545											
MCM4	4173	broad.mit.edu	37	chr8	48874074	48874074	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgttttgtgtgacacaAgctcggagtgaggatgccag	13	7	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:48874074A>C	uc003xqk.1	+	3	166	c.71_splice	c.e3-2	p.P24_splice	PRKDC_uc003xqi.2_5'Flank|PRKDC_uc003xqj.2_5'Flank|PRKDC_uc011ldh.1_5'Flank|MCM4_uc003xql.1_Splice_Site_p.P24_splice|MCM4_uc011ldi.1_Splice_Site_p.P24_splice|MCM4_uc010lxw.1_Splice_Site	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4						cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GTGTGACACAAGCTCGGAGTG	0.542													C	48874074	A	C	48874074	5	2	37	1	0	0	0	0	0	0	1	0	9389	86	3	5	75	5	MCM4	8	48874074	Splice_Site	SNP	A	TCGA-BR-6566-01A-11D-1800-08	6052427	48874074	97489948	481	34546											
UBE2V2	7336	broad.mit.edu	37	chr8	48955657	48955657	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggacaaaaaggagtaggCgacggtacagttagctgggg	17	5	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:48955657C>T	uc003xqm.2	+	2	102	c.81C>T	c.(79-81)GGC>GGT	p.G27G		NM_003350	NP_003341	Q15819	UB2V2_HUMAN	ubiquitin-conjugating enzyme E2v2	27					cell proliferation|DNA double-strand break processing|protein polyubiquitination|regulation of DNA repair	cytoplasm|nucleus|UBC13-MMS2 complex	acid-amino acid ligase activity|protein binding				0		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196)				AAGGAGTAGGCGACGGTACAG	0.408								Direct_reversal_of_damage|Rad6_pathway					T	48955657	C	T	48955657	2	4	37	1	0	0	0	0	0	0	0	1	16873	755	27	1		1	UBE2V2	8	48955657	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	81583	48955657	97408365	482	34547											
RB1CC1	9821	broad.mit.edu	37	chr8	53568774	53568774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttctggataatagcttcGtatttctcttcttgttgggt	10	6	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:53568774G>A	uc003xre.3	-	15	4173	c.3615C>T	c.(3613-3615)TAC>TAT	p.Y1205Y	RB1CC1_uc003xrf.3_Silent_p.Y1205Y	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	1205	Potential.				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TAATAGCTTCGTATTTCTCTT	0.343													A	53568774	G	A	53568774	2	1	37	1	0	0	0	0	0	0	0	1	13099	1140	40	1		1	RB1CC1	8	53568774	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	4613117	53568774	92795248	483	34548											
MYBL1	4603	broad.mit.edu	37	chr8	67488453	67488454	+	Frame_Shift_Ins	INS	-	-	T													gttgccaccattacaagtgtINStttttttcccttcaagtaca							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:67488452_67488453G>GT	uc003xwj.3	-	9	1666_1667	c.1259_1260C>AC	c.(1258-1260)aacfs	p.N420fs	MYBL1_uc003xwl.3_Frame_Shift_Ins_p.N420fs|MYBL1_uc003xwk.3_Frame_Shift_Ins_p.N419fs	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 1 (MYBL1), transcript variant 1, mRNA.	420	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CATTACAAGTGTTTTTTTTCCC	0.406													T	67488454	-	T	67488453	7	5	37	1	0	1	1	0	0	0	0	0	10009	1725	60	0	1027	0	MYBL1	8	67488453	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	13919679	67488453	78875569	484	34549											
SLCO5A1	81796	broad.mit.edu	37	chr8	70585114	70585114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaagcttcaggagggcGgctccaaggcagcggggctc	15	11	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:70585114G>A	uc003xyl.2	-	10	3244	c.2537C>T	c.(2536-2538)CCG>CTG	p.P846L	SLCO5A1_uc010lzb.2_Missense_Mutation_p.P791L|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	846						integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCAGGAGGGCGGCTCCAAGGC	0.512													A	70585114	G	A	70585114	3	1	37	1	0	0	0	0	1	0	0	0	14731	1116	39	1	13	1	SLCO5A1	8	70585114	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3096661	70585114	75778908	485	34550											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744651	70744651	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagccccgccgaagtggaCggggcagagggactgggggc	20	12	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:70744651C>T	uc003xyl.2	-	2	965	c.258G>A	c.(256-258)CCG>CCA	p.P86P	SLCO5A1_uc010lzb.2_Silent_p.P86P|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.P86P|SLCO5A1_uc010lzc.2_Silent_p.P86P	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	86	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCGAAGTGGACGGGGCAGAGG	0.642											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	70744651	C	T	70744651	2	4	37	1	0	0	0	0	0	0	0	1	14731	523	19	1		1	SLCO5A1	8	70744651	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	159537	70744651	75619371	486	34551											
TRPA1	8989	broad.mit.edu	37	chr8	72946517	72946517	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtaaaagctgagtccaAaagccagaagaaggaagata	12	5	0	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:72946517A>G	uc003xza.2	-	22	2826	c.2651T>C	c.(2650-2652)TTT>TCT	p.F884S	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	884	Helical; Name=5; (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	GCTGAGTCCAAAAGCCAGAAG	0.303													G	72946517	A	G	72946517	3	3	37	1	0	0	0	0	1	0	0	0	16574	14	1	3	732	3	TRPA1	8	72946517	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	2201866	72946517	73417505	487	34552											
PAG1	55824	broad.mit.edu	37	chr8	81897284	81897284	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagtagattttgccttgccActgtggcctttctccaggtg	11	10	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:81897284A>G	uc003ybz.2	-	7	1314	c.603T>C	c.(601-603)AGT>AGC	p.S201S		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid	201	Cytoplasmic (Potential).				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity				0	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			TTGCCTTGCCACTGTGGCCTT	0.512													G	81897284	A	G	81897284	2	3	37	1	0	0	0	0	0	0	0	1	11388	156	6	3		3	PAG1	8	81897284	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	8950767	81897284	64466738	488	34553											
MTERFD1	51001	broad.mit.edu	37	chr8	97269256	97269256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaagtgtgaatgaagctgGtggcaatggagggtctgcaa	16	5	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:97269256G>A	uc003yhs.1	-	3	499	c.421C>T	c.(421-423)CCA>TCA	p.P141S	MTERFD1_uc003yhr.1_Missense_Mutation_p.P20S|MTERFD1_uc010mbd.1_Missense_Mutation_p.P141S	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	MTERF domain containing 1 precursor	141					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			ovary(1)	1	Breast(36;5.16e-05)					AATGAAGCTGGTGGCAATGGA	0.418													A	97269256	G	A	97269256	3	1	37	1	0	0	0	0	1	0	0	0	9919	1261	44	4	856	4	MTERFD1	8	97269256	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	15371972	97269256	49094766	489	34554											
VPS13B	157680	broad.mit.edu	37	chr8	100791202	100791202	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagttgattctgtatttgtAaaccttggacagcatgtagt	9	5	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:100791202A>G	uc003yiv.2	+	42	7908	c.7797A>G	c.(7795-7797)GTA>GTG	p.V2599V	VPS13B_uc003yiw.2_Silent_p.V2574V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2599					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGTATTTGTAAACCTTGGAC	0.443													G	100791202	A	G	100791202	2	3	37	1	0	0	0	0	0	0	0	1	17187	349	13	3		3	VPS13B	8	100791202	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	3521946	100791202	45572820	490	34555											
TNFRSF11B	4982	broad.mit.edu	37	chr8	119941097	119941097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgttttctacagggtgCtttagatgacgtctcatttg	11	6	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:119941097C>T	uc003yon.3	-	3	795	c.472G>A	c.(472-474)GCA>ACA	p.A158T	TNFRSF11B_uc010mdc.1_RNA	NM_002546	NP_002537	O00300	TR11B_HUMAN	osteoprotegerin precursor	158	TNFR-Cys 4.				apoptosis|skeletal system development		cytokine activity|receptor activity			central_nervous_system(2)	2	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CTACAGGGTGCTTTAGATGAC	0.418													T	119941097	C	T	119941097	3	4	37	1	0	0	0	0	1	0	0	0	16282	797	28	2	745	2	TNFRSF11B	8	119941097	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	19149895	119941097	26422925	491	34556											
ADCY8	114	broad.mit.edu	37	chr8	132051861	132051861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgctgtactgcaggtacGtgtgggaggtggtgtccttc	16	10	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:132051861G>A	uc003ytd.3	-	1	975	c.719C>T	c.(718-720)ACG>ATG	p.T240M	ADCY8_uc010mds.2_Missense_Mutation_p.T240M	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	240					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTGCAGGTACGTGTGGGAGGT	0.647										HNSCC(32;0.087)			A	132051861	G	A	132051861	3	1	37	1	0	0	0	0	1	0	0	0	300	1145	40	1	3108	1	ADCY8	8	132051861	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	12110764	132051861	14312161	492	34557											
TG	7038	broad.mit.edu	37	chr8	134034247	134034247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccacaggcccctaacgcGtctgtgctggtgttcttcca	9	15	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:134034247G>A	uc003ytw.2	+	40	6929	c.6888G>A	c.(6886-6888)GCG>GCA	p.A2296A	TG_uc010mdw.2_Silent_p.A1055A|TG_uc011ljb.1_Silent_p.A665A|TG_uc011ljc.1_Silent_p.A429A	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2296					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCCCTAACGCGTCTGTGCTGG	0.562													A	134034247	G	A	134034247	2	1	37	1	0	0	0	0	0	0	0	1	15810	1132	40	1		1	TG	8	134034247	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1982386	134034247	12329775	493	34558											
FAM83H	286077	broad.mit.edu	37	chr8	144810245	144810245	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgcgccggcgtgagctgCgggtcccactggtactgctg	18	13	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:144810245C>T	uc003yzk.2	-	5	1455	c.1386G>A	c.(1384-1386)CCG>CCA	p.P462P	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	462					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCGTGAGCTGCGGGTCCCACT	0.701													T	144810245	C	T	144810245	2	4	37	1	0	0	0	0	0	0	0	1	5640	755	27	1		1	FAM83H	8	144810245	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	10775998	144810245	1553777	494	34559											
EPPK1	83481	broad.mit.edu	37	chr8	144946676	144946676	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtccaggatgcccaccTccagcagctcagctgcactc	9	18	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:144946676T>G	uc003zaa.1	-	1	759	c.746A>C	c.(745-747)GAG>GCG	p.E249A		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	249						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GATGCCCACCTCCAGCAGCTC	0.692													G	144946676	T	G	144946676	3	3	37	1	0	0	0	0	1	0	0	0	5190	1551	54	5	6520	5	EPPK1	8	144946676	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	136431	144946676	1417346	495	34560											
PLEC	5339	broad.mit.edu	37	chr8	144994175	144994175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcccgtgcggaactgacGcaacagctcctgccgctgct	11	16	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:144994175G>A	uc003zaf.1	-	32	10395	c.10225C>T	c.(10225-10227)CGT>TGT	p.R3409C	PLEC_uc003zab.1_Missense_Mutation_p.R3272C|PLEC_uc003zac.1_Missense_Mutation_p.R3276C|PLEC_uc003zad.2_Missense_Mutation_p.R3272C|PLEC_uc003zae.1_Missense_Mutation_p.R3240C|PLEC_uc003zag.1_Missense_Mutation_p.R3250C|PLEC_uc003zah.2_Missense_Mutation_p.R3258C|PLEC_uc003zaj.2_Missense_Mutation_p.R3299C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3409	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CGGAACTGACGCAACAGCTCC	0.607													A	144994175	G	A	144994175	3	1	37	1	0	0	0	0	1	0	0	0	12052	1087	38	1	3833	1	PLEC	8	144994175	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	47499	144994175	1369847	496	34561											
GRINA	2907	broad.mit.edu	37	chr8	145065972	145065972	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgacaggccttcatccgcaaGgtgggtaggggcatctccaa	13	12	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:145065972G>T	uc003zan.1	+	3	658	c.492G>T	c.(490-492)AAG>AAT	p.K164N	GRINA_uc003zao.1_Missense_Mutation_p.K164N|GRINA_uc003zap.1_Missense_Mutation_p.K164N	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl	164						integral to membrane				central_nervous_system(1)	1	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCATCCGCAAGGTGGGTAGGG	0.607													T	145065972	G	T	145065972	3	4	37	1	0	0	0	0	1	0	0	0	6785	1014	35	5	498	5	GRINA	8	145065972	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	71797	145065972	1298050	497	34562											
LRRC14	9684	broad.mit.edu	37	chr8	145746387	145746387	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcacggagcccacatgctgCccacctcaagaagttggacc	11	15	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:145746387C>A	uc003zdk.1	+	4	1153	c.1007C>A	c.(1006-1008)GCC>GAC	p.A336D	LRRC14_uc003zdl.1_Missense_Mutation_p.A336D|LRRC14_uc003zdo.2_5'Flank	NM_014665	NP_055480	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	336											0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCACATGCTGCCCACCTCAAG	0.617													A	145746387	C	A	145746387	3	1	37	1	0	0	0	0	1	0	0	0	8968	739	26	5	1017	5	LRRC14	8	145746387	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	680415	145746387	617635	498	34563											
ZNF251	90987	broad.mit.edu	37	chr8	145948606	145948606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccggcagaatttcccaCgcgctctttgagtttgccct	9	15	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:145948606C>T	uc003zdv.3	-	5	695	c.439G>A	c.(439-441)GTG>ATG	p.V147M		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GAATTTCCCACGCGCTCTTTG	0.478													T	145948606	C	T	145948606	3	4	37	1	0	0	0	0	1	0	0	0	17793	536	19	1	1580	1	ZNF251	8	145948606	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	202219	145948606	415416	499	34564											
COMMD5	28991	broad.mit.edu	37	chr8	146076615	146076615	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggtcccctagtagccgggCcattgctgccacctctggag	12	14	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:146076615C>A	uc003zem.2	-	2	240	c.109G>T	c.(109-111)GCC>TCC	p.A37S	COMMD5_uc003zel.1_RNA|COMMD5_uc003zen.2_Missense_Mutation_p.A37S|COMMD5_uc003zeo.3_Missense_Mutation_p.A37S|COMMD5_uc010mgf.2_Missense_Mutation_p.A37S	NM_001081004	NP_001074473	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	37						nucleus	protein binding			ovary(1)	1	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			AGTAGCCGGGCCATTGCTGCC	0.597													A	146076615	C	A	146076615	3	1	37	1	0	0	0	0	1	0	0	0	3719	739	26	5	569	5	COMMD5	8	146076615	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	128009	146076615	287407	500	34565											
DOCK8	81704	broad.mit.edu	37	chr9	379854	379854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacctgagcaaggaccagCatgggaggaactgcctgctg	15	10	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:379854C>T	uc003zgf.2	+	21	2636	c.2524C>T	c.(2524-2526)CAT>TAT	p.H842Y	DOCK8_uc010mgu.2_Missense_Mutation_p.H144Y|DOCK8_uc010mgv.2_Missense_Mutation_p.H774Y|DOCK8_uc010mgw.1_Missense_Mutation_p.H144Y|DOCK8_uc003zgk.2_Missense_Mutation_p.H300Y|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	842					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAAGGACCAGCATGGGAGGAA	0.572													T	379854	C	T	379854	3	4	37	1	0	0	0	0	1	0	0	0	4693	710	25	2	2606	2	DOCK8	9	379854	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08		379854	140833577	501	34566											
DMRT3	58524	broad.mit.edu	37	chr9	990868	990868	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcgcccgtccttcctgccCgcgccacggaagaccctcgg	11	20	0	1	rs141821476	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:990868C>A	uc003zgw.1	+	2	1320	c.1282C>A	c.(1282-1284)CGC>AGC	p.R428S		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	428					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.R428C(1)		ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCTTCCTGCCCGCGCCACGGA	0.552													A	990868	C	A	990868	3	1	37	1	0	0	0	0	1	0	0	0	4587	652	23	5	1288	5	DMRT3	9	990868	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	611014	990868	140222563	502	34567											
SMARCA2	6595	broad.mit.edu	37	chr9	2060967	2060967	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccaaagagaagaagaAgaggaggaggaggaagaagg	19	3	0	5			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:2060967A>G	uc003zhc.2	+	9	1772	c.1673A>G	c.(1672-1674)AAG>AGG	p.K558R	SMARCA2_uc003zhd.2_Missense_Mutation_p.K558R|SMARCA2_uc010mha.2_Missense_Mutation_p.K549R	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	558					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gagaagaagaagaggaggagg	0.418													G	2060967	A	G	2060967	3	3	37	1	0	0	0	0	1	0	0	0	14769	72	3	3	1703	3	SMARCA2	9	2060967	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	1070099	2060967	139152464	503	34568											
KCNV2	169522	broad.mit.edu	37	chr9	2717876	2717876	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggccagcatccacggctGgacagagggcaactataact	11	13	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:2717876G>A	uc003zho.1	+	1	351	c.137G>A	c.(136-138)TGG>TAG	p.W46*		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	46	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		ATCCACGGCTGGACAGAGGGC	0.617													A	2717876	G	A	2717876	4	1	37	1	0	0	0	0	0	1	0	0	8095	1357	47	4	139	4	KCNV2	9	2717876	Nonsense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	656909	2717876	138495555	504	34569											
KCNV2	169522	broad.mit.edu	37	chr9	2718786	2718786	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctgccgctctaccttcaGctgctgctcgagtgcttcac	8	16	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:2718786G>A	uc003zho.1	+	1	1261	c.1047G>A	c.(1045-1047)CAG>CAA	p.Q349Q		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	349	Helical; Name=Segment S3; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		TCTACCTTCAGCTGCTGCTCG	0.682													A	2718786	G	A	2718786	2	1	37	1	0	0	0	0	0	0	0	1	8095	962	34	2		2	KCNV2	9	2718786	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	910	2718786	138494645	505	34570											
NFIB	4781	broad.mit.edu	37	chr9	14125630	14125630	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctatgcttgaaactcctcaCcactgtgtgcaactccaggt	7	13	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:14125630C>T	uc003zle.2	-	7	1495	c.1060_splice	c.e7+1	p.V354_splice	NFIB_uc003zld.2_Splice_Site_p.V102_splice|NFIB_uc003zlf.2_Splice_Site_p.V354_splice|NFIB_uc011lmo.1_Splice_Site_p.V354_splice	NM_005596	NP_005587	O00712	NFIB_HUMAN	nuclear factor I/B						anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity				0				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		AAACTCCTCACCACTGTGTGC	0.507			T	MYB|HGMA2	adenoid cystic carcinoma|lipoma								T	14125630	C	T	14125630	5	4	37	1	0	0	0	0	0	0	1	0	10371	521	18	4	213	4	NFIB	9	14125630	Splice_Site	SNP	C	TCGA-BR-6566-01A-11D-1800-08	11406844	14125630	127087801	506	34571											
FREM1	158326	broad.mit.edu	37	chr9	14737531	14737531	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggccctcttctcccattggTgaaggcaacaggttcaccac	10	14	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:14737531T>A	uc003zlm.2	-	37	6993	c.6403A>T	c.(6403-6405)ACC>TCC	p.T2135S	FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_RNA|FREM1_uc003zll.2_Missense_Mutation_p.T671S	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	2135	C-type lectin.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		CTCCCATTGGTGAAGGCAACA	0.468													A	14737531	T	A	14737531	3	1	37	1	0	0	0	0	1	0	0	0	6044	1696	59	5	140	5	FREM1	9	14737531	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	611901	14737531	126475900	507	34572											
FREM1	158326	broad.mit.edu	37	chr9	14823321	14823321	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccactttcatatagttcacaGcatgctgcaaagtaagttga	7	9	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:14823321G>T	uc003zlm.2	-	13	2764	c.2174C>A	c.(2173-2175)GCT>GAT	p.A725D	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	725	CSPG 4.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		ATAGTTCACAGCATGCTGCAA	0.433													T	14823321	G	T	14823321	3	4	37	1	0	0	0	0	1	0	0	0	6044	971	34	5	4515	5	FREM1	9	14823321	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	85790	14823321	126390110	508	34573											
CNTLN	54875	broad.mit.edu	37	chr9	17484353	17484353	+	Frame_Shift_Del	DEL	A	A	-													ggcgacaaataagagagcttAaaaaaatgaagaaaaacagg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:17484352_17484352TA>T	uc003zmz.2	+	23	3938	c.3912_3912TA>T	c.(3910-3912)cttfs	p.L1304fs	CNTLN_uc003zmy.3_Frame_Shift_Del_p.L1305fs|CNTLN_uc010mio.3_Frame_Shift_Del_p.L984fs	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	1305						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TAAGAGAGCTTAAAAAAATGA	0.398													-	17484353	A	-	17484353	7	5	37	1	0	1	0	1	0	0	0	0	3639	363	13	0	4040	0	CNTLN	9	17484353	Frame_Shift_Del	DEL	A	TCGA-BR-6566-01A-11D-1800-08	2661032	17484353	123729078	509	34574											
HAUS6	54801	broad.mit.edu	37	chr9	19058129	19058129	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaggtgtccaaaaagttaAgcgtatcatctgtttgtaca	8	8	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:19058129A>C	uc003znk.2	-	16	2889	c.2636T>G	c.(2635-2637)CTT>CGT	p.L879R	HAUS6_uc011lmz.1_Missense_Mutation_p.L599R|HAUS6_uc003znl.1_Missense_Mutation_p.L743R	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	879					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2						CAAAAAGTTAAGCGTATCATC	0.413													C	19058129	A	C	19058129	3	2	37	1	0	0	0	0	1	0	0	0	6970	72	3	5	239	5	HAUS6	9	19058129	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	1573776	19058129	122155302	510	34575											
C9orf11	54586	broad.mit.edu	37	chr9	27296739	27296739	+	Splice_Site	DEL	A	A	-													gtagcacattaggcaatgctAaaaaaaagtatcacacacca							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:27296738_27296738TA>T	uc003zql.3	-	2	161	c.77_splice	c.e2-1	p.A26_splice	C9orf11_uc011lnq.2_Splice_Site_p.A26_splice|C9orf11_uc003zqm.3_Splice_Site_p.A26_splice	NM_020641	NP_065692	Q9NQ60	AFAF_HUMAN	Homo sapiens chromosome 9 open reading frame 11 (C9orf11), transcript variant 1, mRNA.	26						acrosomal membrane|integral to membrane				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	17				OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106)		TAGGCAATGCTAAAAAAAAGT	0.323													-	27296739	A	-	27296739	8	5	37	1	0	1	0	1	0	0	1	0	2448	377	13	0		0	C9orf11	9	27296739	Splice_Site	DEL	A	TCGA-BR-6566-01A-11D-1800-08	8238610	27296739	113916692	511	34576											
SPINK4	27290	broad.mit.edu	37	chr9	33240248	33240248	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcgccctggccttggctgcCctccttgttgtggacagggg	14	13	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:33240248C>A	uc003zsh.2	+	1	53	c.42C>A	c.(40-42)GCC>GCA	p.A14A	SUGT1P1_uc010mjq.1_Intron	NM_014471	NP_055286	O60575	ISK4_HUMAN	serine peptidase inhibitor, Kazal type 4	14						extracellular region	serine-type endopeptidase inhibitor activity				0			LUSC - Lung squamous cell carcinoma(29;0.00506)			CCTTGGCTGCCCTCCTTGTTG	0.622													A	33240248	C	A	33240248	2	1	37	1	0	0	0	0	0	0	0	1	15060	610	22	5		5	SPINK4	9	33240248	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	5943509	33240248	107973183	512	34577											
NOL6	65083	broad.mit.edu	37	chr9	33469213	33469213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctgctcaccatcccctGcaggactctgccctcggtac	10	18	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:33469213G>A	uc003zsz.2	-	6	955	c.854C>T	c.(853-855)GCA>GTA	p.A285V	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zta.2_Missense_Mutation_p.A285V|NOL6_uc010mjv.2_Missense_Mutation_p.A285V|NOL6_uc011lob.1_Missense_Mutation_p.A225V|NOL6_uc003ztb.1_Missense_Mutation_p.A285V	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	285					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ACCATCCCCTGCAGGACTCTG	0.612													A	33469213	G	A	33469213	3	1	37	1	0	0	0	0	1	0	0	0	10525	1319	46	2	2670	2	NOL6	9	33469213	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	228965	33469213	107744218	513	34578											
UBAP1	51271	broad.mit.edu	37	chr9	34234267	34234267	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacaggagacaaattcaaaAcaccagctaaagttggtcta	8	8	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:34234267A>G	uc003ztx.2	+	3	323	c.88A>G	c.(88-90)ACA>GCA	p.T30A	UBAP1_uc010mka.1_Intron|UBAP1_uc003zty.2_Missense_Mutation_p.T30A|UBAP1_uc011loi.1_Intron|UBAP1_uc011loj.1_Missense_Mutation_p.T94A|KIF24_uc010mkb.2_Intron|UBAP1_uc003ztz.2_Missense_Mutation_p.T30A	NM_016525	NP_057609	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	30	UMA.					cytoplasm					0			LUSC - Lung squamous cell carcinoma(29;0.00272)			CAAATTCAAAACACCAGCTAA	0.348													G	34234267	A	G	34234267	3	3	37	1	0	0	0	0	1	0	0	0	16833	43	2	3	331	3	UBAP1	9	34234267	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	765054	34234267	106979164	514	34579											
KIF24	347240	broad.mit.edu	37	chr9	34256112	34256112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctcactacccatgtgttCgtgggagaaaagtacagtct	10	10	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:34256112C>T	uc003zua.3	-	11	3613	c.3493G>A	c.(3493-3495)GAA>AAA	p.E1165K	KIF24_uc010mkb.2_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1165					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCCATGTGTTCGTGGGAGAAA	0.582													T	34256112	C	T	34256112	3	4	37	1	0	0	0	0	1	0	0	0	8292	893	31	1	625	1	KIF24	9	34256112	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	21845	34256112	106957319	515	34580											
IL11RA	3590	broad.mit.edu	37	chr9	34657125	34657126	+	Frame_Shift_Ins	INS	-	-	C													cagatcagcggtttacccacINSccgctacctcacctcctaca							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:34657124_34657125A>AC	uc003zvi.3	+	4	1780_1781	c.424_425A>AC	c.(424-426)accfs	p.T142fs	IL11RA_uc011loq.2_Frame_Shift_Ins_p.T142fs|IL11RA_uc003zvj.3_Frame_Shift_Ins_p.T142fs|IL11RA_uc003zvk.3_Frame_Shift_Ins_p.T142fs|IL11RA_uc010mke.3_Frame_Shift_Ins_p.P17fs	NM_004512	NP_004503	Q14626	I11RA_HUMAN	Homo sapiens interleukin 11 receptor, alpha (IL11RA), transcript variant 1, mRNA.	142	Fibronectin type-III 1.					integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CGGTTTACCCACCCGCTACCTC	0.579													C	34657126	-	C	34657125	7	5	37	1	0	1	1	0	0	0	0	0	7623	507	18	0	439	0	IL11RA	9	34657125	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	401013	34657125	106556306	516	34581											
ZCCHC7	84186	broad.mit.edu	37	chr9	37126908	37126908	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgatgatatccttctcaaCcttgtgggatgtgaaaactc	9	8	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:37126908C>A	uc003zzq.2	+	2	752	c.579C>A	c.(577-579)AAC>AAA	p.N193K	ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Missense_Mutation_p.N192K|ZCCHC7_uc010mlt.2_Missense_Mutation_p.N192K|ZCCHC7_uc003zzs.1_Missense_Mutation_p.N192K	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	193							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(29;0.0137)		TCCTTCTCAACCTTGTGGGAT	0.393													A	37126908	C	A	37126908	3	1	37	1	0	0	0	0	1	0	0	0	17590	506	18	5	581	5	ZCCHC7	9	37126908	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2469783	37126908	104086523	517	34582											
CNTNAP3	79937	broad.mit.edu	37	chr9	39140608	39140608	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgggttccctcggtgcttgTgggcttcacaagactgctcg	13	12	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:39140608T>C	uc004abi.2	-	12	2023	c.1784A>G	c.(1783-1785)CAC>CGC	p.H595R	CNTNAP3_uc004abj.2_Missense_Mutation_p.H595R|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Missense_Mutation_p.H595R|CNTNAP3_uc011lqs.1_Missense_Mutation_p.H502R|CNTNAP3_uc004abl.1_Missense_Mutation_p.H414R	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	cell recognition molecule CASPR3 precursor	595	Fibrinogen C-terminal.|Extracellular (Potential).				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCGGTGCTTGTGGGCTTCACA	0.478													C	39140608	T	C	39140608	3	2	37	1	0	0	0	0	1	0	0	0	3648	1696	59	3	2134	3	CNTNAP3	9	39140608	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	2013700	39140608	102072823	518	34583											
TMEM2	23670	broad.mit.edu	37	chr9	74347431	74347431	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccatgtgcaggaactgagGggtttctggttgatatgagc	14	7	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:74347431G>T	uc011lsa.1	-	7	1939	c.1399C>A	c.(1399-1401)CCT>ACT	p.P467T	TMEM2_uc010mos.2_Missense_Mutation_p.P404T|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	467						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGGAACTGAGGGGTTTCTGGT	0.408													T	74347431	G	T	74347431	3	4	37	1	0	0	0	0	1	0	0	0	16118	1232	43	5	2824	5	TMEM2	9	74347431	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	35206823	74347431	66866000	519	34584											
TRPM6	140803	broad.mit.edu	37	chr9	77448921	77448921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attgtctacttacatcttttCcaataaggtctctctggttc	5	10	4	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:77448921C>T	uc004ajl.1	-	6	900	c.662G>A	c.(661-663)GGA>GAA	p.G221E	TRPM6_uc004ajk.1_Missense_Mutation_p.G216E|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.G221E|TRPM6_uc010mpd.1_Missense_Mutation_p.G221E|TRPM6_uc010mpe.1_Missense_Mutation_p.G221E|TRPM6_uc004ajn.1_Missense_Mutation_p.G221E	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	221	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						TACATCTTTTCCAATAAGGTC	0.333													T	77448921	C	T	77448921	3	4	37	1	0	0	0	0	1	0	0	0	16587	855	30	4	5542	4	TRPM6	9	77448921	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3101490	77448921	63764510	520	34585											
VPS13A	23230	broad.mit.edu	37	chr9	79981681	79981681	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagttccggcagagaagaAgctaaagattcaaaacaaaa	9	7	1	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:79981681A>C	uc004akr.2	+	61	8624	c.8364A>C	c.(8362-8364)GAA>GAC	p.E2788D	VPS13A_uc004akp.3_Missense_Mutation_p.E2788D|VPS13A_uc004akq.3_Missense_Mutation_p.E2788D|VPS13A_uc004aks.2_Missense_Mutation_p.E2749D	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2788					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						GCAGAGAAGAAGCTAAAGATT	0.313													C	79981681	A	C	79981681	3	2	37	1	0	0	0	0	1	0	0	0	17186	69	3	5	8606	5	VPS13A	9	79981681	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	2532760	79981681	61231750	521	34586											
HNRNPK	3190	broad.mit.edu	37	chr9	86586858	86586858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctctgctaccaccccggcCgcctcgtccgggaggagggg	15	16	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:86586858C>T	uc004ang.3	-	11	1116	c.892G>A	c.(892-894)GGC>AGC	p.G298S	HNRNPK_uc011lsw.1_Missense_Mutation_p.G58S|HNRNPK_uc004and.3_Missense_Mutation_p.G58S|HNRNPK_uc004ank.3_Missense_Mutation_p.G298S|HNRNPK_uc004anf.3_Missense_Mutation_p.G298S|HNRNPK_uc004anh.3_Missense_Mutation_p.G274S|HNRNPK_uc011lsx.1_Missense_Mutation_p.G274S|HNRNPK_uc004ani.3_Missense_Mutation_p.G298S|HNRNPK_uc004anj.3_Missense_Mutation_p.G298S|HNRNPK_uc004ann.3_Missense_Mutation_p.G274S|HNRNPK_uc004anl.3_Missense_Mutation_p.G298S|HNRNPK_uc004anm.3_Missense_Mutation_p.G298S|uc004ano.1_5'Flank|MIR7-1_hsa-mir-7-1|MI0000263_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	298	3-4.|2 X 6 AA approximate repeats.|2 X 22 AA approximate repeats.|Interaction with ZIK1 (By similarity).|5 X 4 AA repeats of G-X-G-G.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			skin(1)	1						CCACCCCGGCCGCCTCGTCCG	0.572													T	86586858	C	T	86586858	3	4	37	1	0	0	0	0	1	0	0	0	7269	652	23	1	565	1	HNRNPK	9	86586858	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	6605177	86586858	54626573	522	34587											
ZCCHC6	79670	broad.mit.edu	37	chr9	88938202	88938202	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttagagagtcttctagttcCtcagtaccttctgtactttc	6	10	4	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:88938202C>A	uc004aoq.2	-	13	2678	c.2463G>T	c.(2461-2463)GAG>GAT	p.E821D	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.E698D|ZCCHC6_uc004aou.2_Missense_Mutation_p.E821D	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	821	Glu-rich.				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						CTTCTAGTTCCTCAGTACCTT	0.373													A	88938202	C	A	88938202	3	1	37	1	0	0	0	0	1	0	0	0	17589	680	24	5	2084	5	ZCCHC6	9	88938202	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2351344	88938202	52275229	523	34588											
WNK2	65268	broad.mit.edu	37	chr9	95992150	95992150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctcagggacgctgaagaCgtaagctccgcttcctgagg	13	12	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:95992150C>T	uc004ati.1	+	2	854	c.854C>T	c.(853-855)ACA>ATA	p.T285I	WNK2_uc011lud.1_Missense_Mutation_p.T285I|WNK2_uc004atj.2_Missense_Mutation_p.T285I|WNK2_uc010mrc.1_Missense_Mutation_p.T285I|WNK2_uc010mrd.1_5'Flank	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	285	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						ACGCTGAAGACGTAAGCTCCG	0.637													T	95992150	C	T	95992150	3	4	37	1	0	0	0	0	1	0	0	0	17375	550	19	1	860	1	WNK2	9	95992150	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	7053948	95992150	45221281	524	34589											
PTCH1	5727	broad.mit.edu	37	chr9	98209617	98209617	+	Frame_Shift_Del	DEL	G	G	-													ggtggccacaagccttctctGggggggtccctgcggggctg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:98209616_98209616TG>T	uc004avk.4	-	22	4110	c.3922_3922CA>A	c.(3922-3924)agafs	p.R1308fs	PTCH1_uc010mrn.3_Frame_Shift_Del_p.R100fs|PTCH1_uc010mro.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc010mrp.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc010mrq.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc004avl.4_Frame_Shift_Del_p.R1157fs|PTCH1_uc004avm.4_Frame_Shift_Del_p.R1307fs|PTCH1_uc010mrr.3_Frame_Shift_Del_p.R1242fs	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1308					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.R1308G(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAGCCTTCTCTGGGGGGGTCC	0.662													-	98209617	G	-	98209617	7	5	37	1	0	1	0	1	0	0	0	0	12730	1335	47	0	426	0	PTCH1	9	98209617	Frame_Shift_Del	DEL	G	TCGA-BR-6566-01A-11D-1800-08	2217467	98209617	43003814	525	34590											
ANKS6	203286	broad.mit.edu	37	chr9	101530501	101530501	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttttttcctctgggcagcGatttgggacaagacattgtc	11	9	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:101530501G>A	uc004ayu.2	-	11	2025	c.2004C>T	c.(2002-2004)ATC>ATT	p.I668I	ANKS6_uc004ayt.2_Silent_p.I367I|ANKS6_uc004ayv.1_Silent_p.I130I|ANKS6_uc004ayw.1_Silent_p.I250I|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	668	Ser-rich.									ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				TCTGGGCAGCGATTTGGGACA	0.527													A	101530501	G	A	101530501	2	1	37	1	0	0	0	0	0	0	0	1	692	1048	37	1		1	ANKS6	9	101530501	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3320884	101530501	39682930	526	34591											
TMEFF1	8577	broad.mit.edu	37	chr9	103204565	103204565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagatcgccagcatgctGccggagcagctctacttcct	11	13	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:103204565G>A	uc004bay.1	+	1	378	c.345G>A	c.(343-345)CTG>CTA	p.L115L	C9orf30_uc004baw.2_Silent_p.L115L|C9orf30_uc004bax.2_RNA	NM_003692	NP_003683	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two	Error:Variant_position_missing_in_Q8IYR6_after_alignment					multicellular organismal development	integral to membrane|plasma membrane					0		Acute lymphoblastic leukemia(62;0.0452)				CCAGCATGCTGCCGGAGCAGC	0.582													A	103204565	G	A	103204565	2	1	37	1	0	0	0	0	0	0	0	1	16010	1306	46	2		2	TMEFF1	9	103204565	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1674064	103204565	38008866	527	34592											
CYLC2	1539	broad.mit.edu	37	chr9	105767642	105767642	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtaaaagcagatgaaaagaaGgatgaggatggaaaaaaaga	13	1	0	5			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:105767642G>C	uc004bbs.2	+	5	799	c.729G>C	c.(727-729)AAG>AAC	p.K243N		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	243	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)				ATGAAAAGAAGGATGAGGATG	0.363													C	105767642	G	C	105767642	3	2	37	1	0	0	0	0	1	0	0	0	4142	991	35	5	747	5	CYLC2	9	105767642	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2563077	105767642	35445789	528	34593											
ACTL7B	10880	broad.mit.edu	37	chr9	111617863	111617863	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtccaccacgatgccgtgCttcagcgggttcaccagctt	10	15	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:111617863C>A	uc004bdi.2	-	1	413	c.348G>T	c.(346-348)AAG>AAT	p.K116N		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	116						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						CGATGCCGTGCTTCAGCGGGT	0.642													A	111617863	C	A	111617863	3	1	37	1	0	0	0	0	1	0	0	0	201	796	28	5	903	5	ACTL7B	9	111617863	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	5850221	111617863	29595568	529	34594											
ACTL7A	10881	broad.mit.edu	37	chr9	111625161	111625161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagaaatatgctgaaatgCtgtttgaagccttcaacacc	9	8	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:111625161C>T	uc004bdj.1	+	1	559	c.559C>T	c.(559-561)CTG>TTG	p.L187L		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	187						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0						TGCTGAAATGCTGTTTGAAGC	0.567													T	111625161	C	T	111625161	2	4	37	1	0	0	0	0	0	0	0	1	200	796	28	2		2	ACTL7A	9	111625161	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	7298	111625161	29588270	530	34595											
PTPN3	5774	broad.mit.edu	37	chr9	112144725	112144725	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcactgtgtgttcttccccGgtctgtgggagatgcagtgg	15	9	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:112144725G>A	uc004bed.2	-	24	2497	c.2385C>T	c.(2383-2385)ACC>ACT	p.T795T	PTPN3_uc004beb.2_Silent_p.T664T|PTPN3_uc004bec.2_Silent_p.T619T|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.T750T|PTPN3_uc011lwh.1_Silent_p.T641T|PTPN3_uc011lwd.1_Silent_p.T263T|PTPN3_uc011lwe.1_Silent_p.T508T|PTPN3_uc011lwf.1_Silent_p.T463T	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	795	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						GTTCTTCCCCGGTCTGTGGGA	0.572													A	112144725	G	A	112144725	2	1	37	1	0	0	0	0	0	0	0	1	12789	1103	39	1		1	PTPN3	9	112144725	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	519564	112144725	29068706	531	34596											
KIAA0368	23392	broad.mit.edu	37	chr9	114138817	114138817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagccgagcactatccatcGcagcctaaagaagagaaatt	8	10	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:114138817G>A	uc004bfe.1	-	38	4493	c.4493C>T	c.(4492-4494)GCG>GTG	p.A1498V		NM_001080398	NP_001073867			KIAA0368 protein												0						ACTATCCATCGCAGCCTAAAG	0.388													A	114138817	G	A	114138817	3	1	37	1	0	0	0	0	1	0	0	0	8171	1087	38	1	1616	1	KIAA0368	9	114138817	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1994092	114138817	27074614	532	34597											
SUSD1	64420	broad.mit.edu	37	chr9	114874015	114874015	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacggtgtagttggtgcctgGgtacagggctaggcacactt	15	9	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:114874015G>T	uc004bfu.2	-	8	1131	c.1090C>A	c.(1090-1092)CCA>ACA	p.P364T	SUSD1_uc010mui.2_Missense_Mutation_p.P364T|SUSD1_uc010muj.2_Missense_Mutation_p.P364T	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1 precursor	364	Extracellular (Potential).					integral to membrane	calcium ion binding				0						TTGGTGCCTGGGTACAGGGCT	0.557													T	114874015	G	T	114874015	3	4	37	1	0	0	0	0	1	0	0	0	15404	1232	43	5	1193	5	SUSD1	9	114874015	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	735198	114874015	26339416	533	34598											
TNFSF15	9966	broad.mit.edu	37	chr9	117552745	117552745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctcctatagtaagaagGctccaaagaaggttttatct	7	9	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:117552745G>A	uc004bjh.2	-	4	859	c.743C>T	c.(742-744)GCC>GTC	p.A248V	TNFSF15_uc004bjg.2_Missense_Mutation_p.A189V	NM_005118	NP_005109	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily,	248	Extracellular (Potential).				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding				0						TAGTAAGAAGGCTCCAAAGAA	0.398													A	117552745	G	A	117552745	3	1	37	1	0	0	0	0	1	0	0	0	16305	1203	42	2	16	2	TNFSF15	9	117552745	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2678730	117552745	23660686	534	34599											
PAPPA	5069	broad.mit.edu	37	chr9	119109445	119109445	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgagggcaccacctttggCagtcaatgttccttccagtg	10	13	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:119109445C>T	uc004bjn.2	+	15	4302	c.3921C>T	c.(3919-3921)GGC>GGT	p.G1307G	PAPPA_uc011lxq.1_Silent_p.G682G	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1307	Sushi 2.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						CCACCTTTGGCAGTCAATGTT	0.542													T	119109445	C	T	119109445	2	4	37	1	0	0	0	0	0	0	0	1	11432	697	25	2		2	PAPPA	9	119109445	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1556700	119109445	22103986	535	34600											
CEP110	11064	broad.mit.edu	37	chr9	123877367	123877367	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcatggtttttaaatttgcAgcacaaactcgactatcaga	7	8	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:123877367A>G	uc004bkx.1	+	9	1377	c.1346_splice	c.e9-2	p.A449_splice	CEP110_uc004bky.1_Splice_Site_p.A53_splice	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa						cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						TTAAATTTGCAGCACAAACTC	0.333													G	123877367	A	G	123877367	5	3	37	1	0	0	0	0	0	0	1	0	3245	202	7	3	1378	3	CEP110	9	123877367	Splice_Site	SNP	A	TCGA-BR-6566-01A-11D-1800-08	4767922	123877367	17336064	536	34601											
GSN	2934	broad.mit.edu	37	chr9	124062285	124062285	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtgcccgaggcgcgggTgagtgcccggggggccccgg	23	13	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:124062285T>G	uc004blf.1	+	1	205	c.144_splice	c.e1+2	p.R48_splice	GSN_uc004bld.1_Intron|GSN_uc010mvq.1_Intron|GSN_uc010mvr.1_Intron|GSN_uc010mvu.1_Intron|GSN_uc010mvt.1_Intron|GSN_uc010mvs.1_Intron|GSN_uc004ble.1_Intron|GSN_uc010mvv.1_Intron|GSN_uc011lyh.1_Intron|GSN_uc011lyi.1_Intron|GSN_uc011lyj.1_5'Flank	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor						actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3						gaggcgcgggtgagtgcccgg	0.348													G	124062285	T	G	124062285	5	3	37	1	0	0	0	0	0	0	1	0	6825	1710	59	5	148	5	GSN	9	124062285	Splice_Site	SNP	T	TCGA-BR-6566-01A-11D-1800-08	184918	124062285	17151146	537	34602											
DAB2IP	153090	broad.mit.edu	37	chr9	124536637	124536638	+	Frame_Shift_Ins	INS	-	-	C													acgagggcctgggcccagacINScccccccacagggataggct							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:124536636_124536637A>AC	uc004bln.3	+	12	3050_3051	c.2981_2982A>AC	c.(2980-2982)gacfs	p.D994fs	DAB2IP_uc004blo.3_Frame_Shift_Ins_p.D898fs|DAB2IP_uc004blp.3_Frame_Shift_Ins_p.D427fs	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	1022					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGGGCCCAGACCCCCCCCACA	0.634													C	124536638	-	C	124536637	7	5	37	1	0	1	1	0	0	0	0	0	4219	506	18	0	3032	0	DAB2IP	9	124536637	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	474352	124536637	16676794	538	34603											
GAPVD1	26130	broad.mit.edu	37	chr9	128061329	128061329	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagctgaaaagttgtatcgTacagcatggattgcgaagca	11	7	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:128061329T>C	uc010mwx.2	+	4	455	c.129T>C	c.(127-129)CGT>CGC	p.R43R	GAPVD1_uc004bpo.2_Silent_p.R43R|GAPVD1_uc011lzs.1_Silent_p.R43R|GAPVD1_uc004bpp.2_Silent_p.R43R|GAPVD1_uc004bpq.2_Silent_p.R43R|GAPVD1_uc004bpr.2_Silent_p.R43R|GAPVD1_uc004bps.2_Silent_p.R43R|GAPVD1_uc010mwy.1_5'Flank	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	43					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						AGTTGTATCGTACAGCATGGA	0.398													C	128061329	T	C	128061329	2	2	37	1	0	0	0	0	0	0	0	1	6239	1625	57	3		3	GAPVD1	9	128061329	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	3524692	128061329	13152102	539	34604											
ZBTB43	23099	broad.mit.edu	37	chr9	129595476	129595476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagttccactacacccggCccatgtacagcaagcccagc	8	18	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:129595476C>T	uc004bql.2	+	3	961	c.688C>T	c.(688-690)CCC>TCC	p.P230S	ZBTB43_uc010mxf.2_Missense_Mutation_p.P230S	NM_014007	NP_054726	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTACACCCGGCCCATGTACAG	0.622													T	129595476	C	T	129595476	3	4	37	1	0	0	0	0	1	0	0	0	17541	739	26	2	690	2	ZBTB43	9	129595476	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1534147	129595476	11617955	540	34605											
ANGPTL2	23452	broad.mit.edu	37	chr9	129856048	129856048	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgaagaagttaacagaGccatccaggcgtctctggat	10	10	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:129856048G>T	uc004bqr.1	-	3	1475	c.975C>A	c.(973-975)GGC>GGA	p.G325G	RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_Silent_p.G23G	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2 precursor	325	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding				0						AGTTAACAGAGCCATCCAGGC	0.612													T	129856048	G	T	129856048	2	4	37	1	0	0	0	0	0	0	0	1	614	958	34	5		5	ANGPTL2	9	129856048	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	260572	129856048	11357383	541	34606											
GARNL3	84253	broad.mit.edu	37	chr9	130106617	130106617	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtttgttagaatagggcAggtgggttttcttctgaaac	14	4	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:130106617A>G	uc011mae.1	+	15	1756	c.1355A>G	c.(1354-1356)CAG>CGG	p.Q452R	GARNL3_uc011mad.1_Missense_Mutation_p.Q430R|GARNL3_uc004bqt.1_Missense_Mutation_p.Q233R	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	452					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						AGAATAGGGCAGGTGGGTTTT	0.478													G	130106617	A	G	130106617	3	3	37	1	0	0	0	0	1	0	0	0	6241	202	7	3	1413	3	GARNL3	9	130106617	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	250569	130106617	11106814	542	34607											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130653119	130653119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggttgacaaactcctggggCctcctcagcacgcggaacac	11	15	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:130653119C>T	uc004bso.1	-	5	620	c.501G>A	c.(499-501)AGG>AGA	p.R167R	ST6GALNAC6_uc004bsn.1_Silent_p.R133R|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bsp.1_Silent_p.R167R|ST6GALNAC6_uc004bsq.1_Silent_p.R133R|ST6GALNAC6_uc004bsr.2_Silent_p.R133R|ST6GALNAC6_uc010mxp.1_RNA	NM_013443	NP_038471	Q969X2	SIA7F_HUMAN	sialytransferase 7F	167	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane|plasma membrane					0						ACTCCTGGGGCCTCCTCAGCA	0.612													T	130653119	C	T	130653119	2	4	37	1	0	0	0	0	0	0	0	1	15227	738	26	2		2	ST6GALNAC6	9	130653119	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	546502	130653119	10560312	543	34608											
CERCAM	51148	broad.mit.edu	37	chr9	131198024	131198024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccactatgccggggacgCcgagtggctcagtgacacgg	14	13	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:131198024C>T	uc004buz.3	+	12	2026	c.1628C>T	c.(1627-1629)GCC>GTC	p.A543V	CERCAM_uc004buy.1_Missense_Mutation_p.A465V|CERCAM_uc010mxz.2_Missense_Mutation_p.A465V	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule 1	543					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				pancreas(1)	1						GCCGGGGACGCCGAGTGGCTC	0.662													T	131198024	C	T	131198024	3	4	37	1	0	0	0	0	1	0	0	0	3266	739	26	2	1674	2	CERCAM	9	131198024	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	544905	131198024	10015407	544	34609											
ODF2	4957	broad.mit.edu	37	chr9	131256894	131256895	+	Frame_Shift_Del	DEL	TA	TA	-													gccaagaccaactgcagggcTatgagcggaagaacatcgac							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:131256893_131256894CTA>C	uc004bvc.3	+	16	2135_2136	c.2049_2050CTA>C	c.(2047-2052)ggctatfs	p.G683fs	ODF2_uc011maz.2_Frame_Shift_Del_p.G619fs|ODF2_uc011mbc.2_Frame_Shift_Del_p.G538fs|ODF2_uc022boj.1_Frame_Shift_Del_p.G615fs|ODF2_uc004bva.3_Frame_Shift_Del_p.G663fs|ODF2_uc004bvb.3_Frame_Shift_Del_p.G595fs|ODF2_uc011mbd.2_Frame_Shift_Del_p.G619fs|ODF2_uc011mbe.2_Frame_Shift_Del_p.G614fs|ODF2_uc011mbf.2_Frame_Shift_Del_p.G600fs|ODF2_uc004bvd.4_Frame_Shift_Del_p.G619fs|ODF2_uc004bve.3_Frame_Shift_Del_p.G600fs|ODF2_uc004bvh.3_5'Flank	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	619					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AACTGCAGGGCTATGAGCGGAA	0.599													-	131256895	TA	-	131256894	7	5	37	1	0	1	0	1	0	0	0	0	10827	1522	53	0	1975	0	ODF2	9	131256894	Frame_Shift_Del	DEL	TA	TCGA-BR-6566-01A-11D-1800-08	58870	131256894	9956537	545	34610											
SPTAN1	6709	broad.mit.edu	37	chr9	131386637	131386637	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaggagaacatctcttcaAagatgaagggcctgaacggg	13	7	2	5			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:131386637A>G	uc004bvl.3	+	45	5961	c.5848A>G	c.(5848-5850)AAG>GAG	p.K1950E	SPTAN1_uc004bvm.3_Missense_Mutation_p.K1955E|SPTAN1_uc004bvn.3_Missense_Mutation_p.K1930E|SPTAN1_uc010mye.1_5'Flank|SPTAN1_uc010myf.1_5'Flank	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1950	Spectrin 20.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						CATCTCTTCAAAGATGAAGGG	0.532													G	131386637	A	G	131386637	3	3	37	1	0	0	0	0	1	0	0	0	15116	15	1	3	6041	3	SPTAN1	9	131386637	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	129743	131386637	9826794	546	34611											
PKN3	29941	broad.mit.edu	37	chr9	131476550	131476550	+	Frame_Shift_Del	DEL	C	C	-													gcctcgtcatgaacctgctgCccccctgcagctccccgagc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:131476549_131476549GC>G	uc004bvw.3	+	10	1779	c.1386_1386GC>G	c.(1384-1386)ctgfs	p.L462fs	PKN3_uc010myh.3_Frame_Shift_Del_p.L462fs|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	462					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						TGAACCTGCTGCCCCCCTGCA	0.652													-	131476550	C	-	131476550	7	5	37	1	0	1	0	1	0	0	0	0	11981	739	26	0	1429	0	PKN3	9	131476550	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	89913	131476550	9736881	547	34612											
C9orf50	375759	broad.mit.edu	37	chr9	132375434	132375434	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggctcggaggctgcttcgCggcctctgagcagcggcctt	15	13	1	1	rs149142867	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:132375434C>T	uc004byc.3	-	6	1342	c.1140G>A	c.(1138-1140)CCG>CCA	p.P380P	C9orf50_uc004byb.3_RNA	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN	hypothetical protein LOC375759	380										ovary(1)|central_nervous_system(1)	2		Ovarian(14;0.00556)				GGCTGCTTCGCGGCCTCTGAG	0.607													T	132375434	C	T	132375434	2	4	37	1	0	0	0	0	0	0	0	1	2487	755	27	1		1	C9orf50	9	132375434	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	898884	132375434	8837997	548	34613											
BAT2L1	84726	broad.mit.edu	37	chr9	134357813	134357813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacttgagtgccgagtctcGggagtcgtctgcgacctcct	13	12	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:134357813G>A	uc004can.3	+	20	5094	c.5039G>A	c.(5038-5040)CGG>CAG	p.R1680Q	BAT2L1_uc004cao.3_Missense_Mutation_p.R1037Q|BAT2L1_uc004cap.3_5'Flank	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1680							protein binding				0						GCCGAGTCTCGGGAGTCGTCT	0.602													A	134357813	G	A	134357813	3	1	37	1	0	0	0	0	1	0	0	0	1320	1116	39	1	5117	1	BAT2L1	9	134357813	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1982379	134357813	6855618	549	34614											
DDX31	64794	broad.mit.edu	37	chr9	135493751	135493751	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaccctcctctcactggaGtgcacgtaatcttcaaatac	7	13	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:135493751G>A	uc004cbq.1	-	18	2258	c.2106C>T	c.(2104-2106)CAC>CAT	p.H702H	DDX31_uc010mzu.1_Intron	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	702						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TCTCACTGGAGTGCACGTAAT	0.557													A	135493751	G	A	135493751	2	1	37	1	0	0	0	0	0	0	0	1	4356	1020	36	4		4	DDX31	9	135493751	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1135938	135493751	5719680	550	34615											
ABO	28	broad.mit.edu	37	chr9	136131645	136131645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgtcacgcggggcaccGcggccggctggtcggtgaag	18	14	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:136131645G>A	uc004cda.1	-	8	498	c.473C>T	c.(472-474)GCG>GTG	p.A158V	ABO_uc010naf.1_Missense_Mutation_p.A17V|ABO_uc011mcz.1_Missense_Mutation_p.A17V|ABO_uc010nag.1_Missense_Mutation_p.A17V	NM_020469	NP_065202	P16442	BGAT_HUMAN	ABO blood group (alpha	158	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding				0				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		GCGGGGCACCGCGGCCGGCTG	0.647													A	136131645	G	A	136131645	3	1	37	1	0	0	0	0	1	0	0	0	97	1087	38	1	595	1	ABO	9	136131645	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	637894	136131645	5081786	551	34616											
CAMSAP1	157922	broad.mit.edu	37	chr9	138710908	138710908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagctgctgcttgcgcaCgcgggcctcctcggccttgc	12	17	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:138710908C>T	uc004cgr.3	-	12	3907	c.3907G>A	c.(3907-3909)GTG>ATG	p.V1303M	CAMSAP1_uc004cgq.3_Missense_Mutation_p.V1193M|CAMSAP1_uc010nbg.2_Missense_Mutation_p.V1025M	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1303						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGCTTGCGCACGCGGGCCTCC	0.657													T	138710908	C	T	138710908	3	4	37	1	0	0	0	0	1	0	0	0	2611	536	19	1	925	1	CAMSAP1	9	138710908	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2579263	138710908	2502523	552	34617											
LHX3	8022	broad.mit.edu	37	chr9	139089228	139089228	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggggctggcagggaagtcGgggtaacccccgctgctccc	17	14	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:139089228G>A	uc004cha.2	-	6	1234	c.1137C>T	c.(1135-1137)CCC>CCT	p.P379P	LHX3_uc004cgz.2_Silent_p.P384P	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN	LIM homeobox protein 3 isoform a	379					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CAGGGAAGTCGGGGTAACCCC	0.697													A	139089228	G	A	139089228	2	1	37	1	0	0	0	0	0	0	0	1	8772	1103	39	1		1	LHX3	9	139089228	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	378320	139089228	2124203	553	34618											
CARD9	64170	broad.mit.edu	37	chr9	139265581	139265581	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagcagctgagtcaggccTgactccccggacgcgtctgt	12	14	3	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:139265581T>C	uc004chg.3	-	4	505	c.339A>G	c.(337-339)TCA>TCG	p.S113S	CARD9_uc011mdw.1_Silent_p.S113S|CARD9_uc011mdx.1_Silent_p.S9S|CARD9_uc010nbj.2_Silent_p.S113S	NM_052813	NP_434700	Q9H257	CARD9_HUMAN	caspase recruitment domain protein 9 isoform 1	113					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			pancreas(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GAGTCAGGCCTGACTCCCCGG	0.627													C	139265581	T	C	139265581	2	2	37	1	0	0	0	0	0	0	0	1	2652	1567	55	3		3	CARD9	9	139265581	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	176353	139265581	1947850	554	34619											
NOTCH1	4851	broad.mit.edu	37	chr9	139401051	139401051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccccattcttgcagggCttgcctttgcagccattgat	10	13	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:139401051C>T	uc004chz.2	-	24	3942	c.3942G>A	c.(3940-3942)AAG>AAA	p.K1314K	NOTCH1_uc004cia.1_Silent_p.K544K	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1314	Extracellular (Potential).|EGF-like 34.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCTTGCAGGGCTTGCCTTTGC	0.687			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			T	139401051	C	T	139401051	2	4	37	1	0	0	0	0	0	0	0	1	10547	796	28	2		2	NOTCH1	9	139401051	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	135470	139401051	1812380	555	34620											
MAMDC4	158056	broad.mit.edu	37	chr9	139751877	139751877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggcgctggacgatgtggCcgtgcggccgggcccctgct	17	14	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:139751877C>T	uc004cjs.2	+	18	2215	c.2165C>T	c.(2164-2166)GCC>GTC	p.A722V	MAMDC4_uc011mej.1_Missense_Mutation_p.A59V	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	801	MAM 4.|Extracellular (Potential).				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GACGATGTGGCCGTGCGGCCG	0.692													T	139751877	C	T	139751877	3	4	37	1	0	0	0	0	1	0	0	0	9204	739	26	2	2235	2	MAMDC4	9	139751877	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	350826	139751877	1461554	556	34621											
TRAF2	7186	broad.mit.edu	37	chr9	139820133	139820133	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccctggggctctctcctccAggtgaccttaatgctgctcg	10	15	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:139820133A>C	uc010nbu.2	+	12	1461	c.1288_splice	c.e12-2	p.V430_splice	TRAF2_uc004cjv.2_Splice_Site_p.V430_splice|TRAF2_uc011mek.1_Splice_Site_p.V419_splice|TRAF2_uc010nbw.2_Splice_Site_p.V405_splice	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2						activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		TCTCTCCTCCAGGTGACCTTA	0.617													C	139820133	A	C	139820133	5	2	37	1	0	0	0	0	0	0	1	0	16435	202	7	5	1324	5	TRAF2	9	139820133	Splice_Site	SNP	A	TCGA-BR-6566-01A-11D-1800-08	68256	139820133	1393298	557	34622											
NDOR1	27158	broad.mit.edu	37	chr9	140100312	140100312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagactgggtcgcgaggCccggcgccggcggcttggct	20	12	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:140100312C>T	uc004clw.2	+	1	194	c.83C>T	c.(82-84)GCC>GTC	p.A28V	TMEM203_uc004clv.2_5'Flank|NDOR1_uc004clx.2_Missense_Mutation_p.A28V|NDOR1_uc011mes.1_Missense_Mutation_p.A28V|NDOR1_uc004cly.2_Missense_Mutation_p.A28V	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	28	Flavodoxin-like.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGTCGCGAGGCCCGGCGCCGG	0.731													T	140100312	C	T	140100312	3	4	37	1	0	0	0	0	1	0	0	0	10249	739	26	2	85	2	NDOR1	9	140100312	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	280179	140100312	1113119	558	34623											
FAM166A	401565	broad.mit.edu	37	chr9	140139126	140139126	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattcgtccatggcttgcaTgacgccgtctcggtaattca	10	11	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:140139126T>C	uc004cmi.1	-	5	770	c.715A>G	c.(715-717)ATG>GTG	p.M239V		NM_001001710	NP_001001710	Q6J272	F166A_HUMAN	hypothetical protein LOC401565	239										ovary(1)	1						ATGGCTTGCATGACGCCGTCT	0.592													C	140139126	T	C	140139126	3	2	37	1	0	0	0	0	1	0	0	0	5481	1464	51	3	250	3	FAM166A	9	140139126	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	38814	140139126	1074305	559	34624											
ZMYND11	10771	broad.mit.edu	37	chr10	255850	255850	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatatgtctcgagtccacggTatgcaccctaaagagaccac	8	12	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:255850T>C	uc010pzt.1	+	3	566	c.138T>C	c.(136-138)GGT>GGC	p.G46G	ZMYND11_uc001ifk.2_Silent_p.G46G|ZMYND11_uc010pzu.1_Silent_p.G46G|ZMYND11_uc010pzv.1_Silent_p.G46G|ZMYND11_uc010pzw.1_Silent_p.G46G|ZMYND11_uc001ifm.2_Silent_p.G46G|ZMYND11_uc010pzx.1_Silent_p.G46G|ZMYND11_uc001ifn.2_Silent_p.G46G|ZMYND11_uc009xhg.2_Silent_p.G29G|ZMYND11_uc009xhh.2_5'UTR|ZMYND11_uc010pzy.1_5'UTR	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	6					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GAGTCCACGGTATGCACCCTA	0.393													C	255850	T	C	255850	2	2	37	1	0	0	0	0	0	0	0	1	17703	1625	57	3		3	ZMYND11	10	255850	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08		255850	135278897	560	34625											
DIP2C	22982	broad.mit.edu	37	chr10	486873	486873	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgcgtttggaaggcataGgcactgccatcttccgctct	10	13	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:486873G>T	uc001ifp.2	-	4	422	c.332C>A	c.(331-333)CCT>CAT	p.P111H	DIP2C_uc009xhk.1_Missense_Mutation_p.L113I	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	111						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGAAGGCATAGGCACTGCCAT	0.602													T	486873	G	T	486873	3	4	37	1	0	0	0	0	1	0	0	0	4529	1000	35	5	4474	5	DIP2C	10	486873	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	231023	486873	135047874	561	34626											
LARP4B	23185	broad.mit.edu	37	chr10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-													agataagcagaattccaatgTttttttaagtacttctcggg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:890938_890938GT>G	uc001ifs.1	-	4	529	c.488_488AC>C	c.(487-489)acafs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	163	HTH La-type RNA-binding.						RNA binding|nucleotide binding	p.T163P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GAATTCCAATGTTTTTTTAAG	0.353													-	890939	T	-	890939	7	5	37	1	0	1	0	1	0	0	0	0	8631	1725	60	0	1781	0	LARP4B	10	890939	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	404066	890939	134643808	562	34627											
PFKP	5214	broad.mit.edu	37	chr10	3174636	3174637	+	Splice_Site	INS	-	-	GA													agaggccttgtgctcaggtgINSagagagagagaccaggggct							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:3174635_3174636T>TGA	uc001igp.3	+	18	1986	c.1910_splice	c.e18+2	p.R637_splice	PFKP_uc001igq.3_Splice_Site_p.R629_splice|PFKP_uc009xhr.3_Splice_Site_p.R599_splice|PFKP_uc009xht.3_Splice_Site_p.R375_splice|PFKP_uc009xhu.3_Splice_Site_p.R143_splice	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	637					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		TGTGCTCAGGTGAGAGAGAGAG	0.495													GA	3174637	-	GA	3174636	8	5	37	1	0	1	1	0	0	0	1	0	11766	1305	45	0		0	PFKP	10	3174636	Splice_Site	INS	-	TCGA-BR-6566-01A-11D-1800-08	2283697	3174636	132360111	563	34628											
ITIH2	3698	broad.mit.edu	37	chr10	7788613	7788613	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagagaccaggaaaggaccCtgagaagccagaggccagca	14	10	0	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:7788613C>A	uc001ijs.2	+	20	2801	c.2639C>A	c.(2638-2640)CCT>CAT	p.P880H		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	880					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3						GGAAAGGACCCTGAGAAGCCA	0.483													A	7788613	C	A	7788613	3	1	37	1	0	0	0	0	1	0	0	0	7904	681	24	5	2717	5	ITIH2	10	7788613	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	4613977	7788613	127746134	564	34629											
USP6NL	9712	broad.mit.edu	37	chr10	11505504	11505504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctgatatttgaagtggCgttgctattttggttggcag	12	6	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:11505504C>T	uc001ikt.3	-	15	1744	c.1423G>A	c.(1423-1425)GCC>ACC	p.A475T	USP6NL_uc001iks.1_Missense_Mutation_p.A492T	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	475						intracellular	Rab GTPase activator activity				0						TTTGAAGTGGCGTTGCTATTT	0.453													T	11505504	C	T	11505504	3	4	37	1	0	0	0	0	1	0	0	0	17084	768	27	1	1067	1	USP6NL	10	11505504	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3716891	11505504	124029243	565	34630											
C10orf47	254427	broad.mit.edu	37	chr10	11911830	11911830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcccggggcccagccacCcggcgcagcccaaggcaccc	13	21	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:11911830C>T	uc001ikx.2	+	4	887	c.733C>T	c.(733-735)CCG>TCG	p.P245S	uc001iky.1_Intron	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN	hypothetical protein LOC254427	245	Pro-rich.									central_nervous_system(1)	1						GCCCAGCCACCCGGCGCAGCC	0.771													T	11911830	C	T	11911830	3	4	37	1	0	0	0	0	1	0	0	0	1605	623	22	4	743	4	C10orf47	10	11911830	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	406326	11911830	123622917	566	34631											
ST8SIA6	338596	broad.mit.edu	37	chr10	17363280	17363280	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgctggcagaagaaaaAatgcatctccataggttgca	9	7	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:17363280A>C	uc001ipd.2	-	8	794	c.794T>G	c.(793-795)TTT>TGT	p.F265C	ST8SIA6_uc010qce.1_RNA	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide	265	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(1)	1						CAGAAGAAAAAATGCATCTCC	0.378													C	17363280	A	C	17363280	3	2	37	1	0	0	0	0	1	0	0	0	15235	14	1	5	406	5	ST8SIA6	10	17363280	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	5451450	17363280	118171467	567	34632											
PLXDC2	84898	broad.mit.edu	37	chr10	20432315	20432315	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttcgatcccagtgtatcCagaaattcaactgtcagata	6	9	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:20432315C>T	uc001iqg.1	+	5	1270	c.633C>T	c.(631-633)TCC>TCT	p.S211S	PLXDC2_uc001iqh.1_Silent_p.S162S|PLXDC2_uc009xkc.1_RNA	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	211	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						CCAGTGTATCCAGAAATTCAA	0.353													T	20432315	C	T	20432315	2	4	37	1	0	0	0	0	0	0	0	1	12118	581	21	4		4	PLXDC2	10	20432315	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3069035	20432315	115102432	568	34633											
NEBL	10529	broad.mit.edu	37	chr10	21097514	21097514	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcggagatttctgacctgtCgtctccgagacctgtaccga	10	13	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:21097514C>A	uc001iqi.2	-	26	3083	c.2686G>T	c.(2686-2688)GAC>TAC	p.D896Y	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	896	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						TCTGACCTGTCGTCTCCGAGA	0.453													A	21097514	C	A	21097514	3	1	37	1	0	0	0	0	1	0	0	0	10303	884	31	5	370	5	NEBL	10	21097514	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	665199	21097514	114437233	569	34634											
NEBL	10529	broad.mit.edu	37	chr10	21139364	21139364	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctcctttgaagcttgatatGatggtgtctcaacaaattca	7	9	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:21139364G>A	uc001iqi.2	-	11	1473	c.1076C>T	c.(1075-1077)TCA>TTA	p.S359L	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	359	Nebulin 10.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						AGCTTGATATGATGGTGTCTC	0.303													A	21139364	G	A	21139364	3	1	37	1	0	0	0	0	1	0	0	0	10303	1294	45	4	2040	4	NEBL	10	21139364	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	41850	21139364	114395383	570	34635											
NEBL	10529	broad.mit.edu	37	chr10	21177122	21177122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaggtcagctttaatggtGcctttgtattttgcctgggg	13	6	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:21177122G>A	uc001iqi.2	-	4	670	c.273C>T	c.(271-273)GGC>GGT	p.G91G	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	91	Nebulin 2.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						CTTTAATGGTGCCTTTGTATT	0.343													A	21177122	G	A	21177122	2	1	37	1	0	0	0	0	0	0	0	1	10303	1306	46	2		2	NEBL	10	21177122	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	37758	21177122	114357625	571	34636											
C10orf140	387640	broad.mit.edu	37	chr10	21805337	21805337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcacgctgggaggcttgCagaagctggtgcgcctgaat	15	11	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:21805337C>T	uc009xkd.2	-	4	3668	c.1415G>A	c.(1414-1416)TGC>TAC	p.C472Y	uc001iqp.1_RNA	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	hypothetical protein LOC387640	391						nucleus	nucleotide binding			ovary(1)	1						GGGAGGCTTGCAGAAGCTGGT	0.637													T	21805337	C	T	21805337	3	4	37	1	0	0	0	0	1	0	0	0	1595	710	25	2	1315	2	C10orf140	10	21805337	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	628215	21805337	113729410	572	34637											
GAD2	2572	broad.mit.edu	37	chr10	26506598	26506598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcggaaacaaactgtgcGgtgagtgcccagggaccggg	16	10	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:26506598G>A	uc001isp.2	+	2	639	c.136G>A	c.(136-138)GCC>ACC	p.A46T	GAD2_uc009xkr.2_Missense_Mutation_p.A46T|GAD2_uc001isq.2_Missense_Mutation_p.A46T	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	46					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Glutamic Acid(DB00142)	CAAACTGTGCGGTGAGTGCCC	0.642													A	26506598	G	A	26506598	3	1	37	1	0	0	0	0	1	0	0	0	6180	1130	39	1	142	1	GAD2	10	26506598	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	4701261	26506598	109028149	573	34638											
ZNF32	7580	broad.mit.edu	37	chr10	44139888	44139888	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggacagcgagactacctcgTtgactgaagcttttcccaca	9	12	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:44139888T>C	uc001jbb.2	-	3	621	c.432A>G	c.(430-432)CAA>CAG	p.Q144Q	uc001jba.2_Intron|ZNF32_uc001jbc.2_Silent_p.Q144Q	NM_001005368	NP_001005368	P17041	ZNF32_HUMAN	zinc finger protein 32	144	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		GACTACCTCGTTGACTGAAGC	0.488													C	44139888	T	C	44139888	2	2	37	1	0	0	0	0	0	0	0	1	17835	1722	60	3		3	ZNF32	10	44139888	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	17633290	44139888	91394859	574	34639											
GDF10	2662	broad.mit.edu	37	chr10	48429293	48429293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggcctgccacaggccgCgcggtgggggcgccagggcc	18	16	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:48429293C>T	uc001jfb.2	-	2	1049	c.593G>A	c.(592-594)CGC>CAC	p.R198H	GDF10_uc009xnp.2_Missense_Mutation_p.R197H|GDF10_uc009xnq.1_Missense_Mutation_p.R198H	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	198					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2						CCACAGGCCGCGCGGTGGGGG	0.721													T	48429293	C	T	48429293	3	4	37	1	0	0	0	0	1	0	0	0	6311	768	27	1	851	1	GDF10	10	48429293	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	4289405	48429293	87105454	575	34640											
NCOA4	8031	broad.mit.edu	37	chr10	51579211	51579211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgaggtgtagtgatgcaCggagggacttggagcttgct	16	5	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:51579211C>T	uc001jis.3	+	2	273	c.70C>T	c.(70-72)CGG>TGG	p.R24W	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Missense_Mutation_p.R40W|NCOA4_uc010qhd.1_Missense_Mutation_p.R40W|NCOA4_uc010qhe.1_Intron|NCOA4_uc010qhf.1_Intron|NCOA4_uc001jit.2_Missense_Mutation_p.R24W|NCOA4_uc009xoo.2_Missense_Mutation_p.R24W	NM_001145263	NP_001138735	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4 isoform 3	24					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			central_nervous_system(1)|kidney(1)	2						TAGTGATGCACGGAGGGACTT	0.448			T	RET	papillary thyroid 								T	51579211	C	T	51579211	3	4	37	1	0	0	0	0	1	0	0	0	10231	527	19	1	124	1	NCOA4	10	51579211	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3149918	51579211	83955536	576	34641											
ASAH2	56624	broad.mit.edu	37	chr10	52003089	52003089	+	Frame_Shift_Del	DEL	T	T	-													tgaggatgccctgtgcattcTggccggatttgccatagccc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:52003088_52003088CT>C	uc001jjd.3	-	2	384	c.384_384AG>G	c.(382-384)cagfs	p.Q128fs	ASAH2_uc009xos.3_Frame_Shift_Del_p.Q128fs	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA.	128					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						CCTGTGCATTCTGGCCGGATT	0.488													-	52003089	T	-	52003089	7	5	37	1	0	1	0	1	0	0	0	0	1007	1580	55	0	2031	0	ASAH2	10	52003089	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	423878	52003089	83531658	577	34642											
FAM13C	220965	broad.mit.edu	37	chr10	61022345	61022345	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggttgctcacacaacAggtttctaggtggacctttg	12	9	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:61022345A>C	uc001jkn.2	-	11	1219	c.1085T>G	c.(1084-1086)CTG>CGG	p.L362R	FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Missense_Mutation_p.L279R|FAM13C_uc010qie.1_Missense_Mutation_p.L279R|FAM13C_uc010qif.1_Missense_Mutation_p.L384R|FAM13C_uc001jkp.2_Missense_Mutation_p.L279R	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	362										ovary(2)	2						CTCACACAACAGGTTTCTAGG	0.502													C	61022345	A	C	61022345	3	2	37	1	0	0	0	0	1	0	0	0	5454	188	7	5	692	5	FAM13C	10	61022345	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	9019256	61022345	74512402	578	34643											
SLC16A9	220963	broad.mit.edu	37	chr10	61414261	61414261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatttaaagctaaagcacCcacaatcagcaagcatccat	4	11	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:61414261C>T	uc010qig.1	-	5	972	c.523G>A	c.(523-525)GGT>AGT	p.G175S		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	solute carrier family 16 (monocarboxylic acid	175	Helical; (Potential).				urate metabolic process	integral to membrane|plasma membrane	symporter activity			skin(2)|ovary(1)	3						GCTAAAGCACCCACAATCAGC	0.438													T	61414261	C	T	61414261	3	4	37	1	0	0	0	0	1	0	0	0	14415	623	22	4	1014	4	SLC16A9	10	61414261	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	391916	61414261	74120486	579	34644											
ANK3	288	broad.mit.edu	37	chr10	61843307	61843307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaagttaaaaacaagttgCtgtcctcctttggtaagtgg	9	6	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:61843307C>T	uc001jky.2	-	33	4335	c.4143G>A	c.(4141-4143)CAG>CAA	p.Q1381Q	ANK3_uc001jkw.2_Silent_p.Q515Q|ANK3_uc009xpa.2_Silent_p.Q515Q|ANK3_uc001jkx.2_Silent_p.Q559Q|ANK3_uc010qih.1_Silent_p.Q1382Q|ANK3_uc001jkz.3_Silent_p.Q1375Q|ANK3_uc001jla.1_Silent_p.Q447Q|ANK3_uc001jkv.2_5'Flank|ANK3_uc009xpb.1_5'Flank|ANK3_uc009xpc.1_5'Flank	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1381					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						AAACAAGTTGCTGTCCTCCTT	0.313													T	61843307	C	T	61843307	2	4	37	1	0	0	0	0	0	0	0	1	622	796	28	2		2	ANK3	10	61843307	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	429046	61843307	73691440	580	34645											
ZNF365	22891	broad.mit.edu	37	chr10	64425917	64425917	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctacaagtcaaagcaggAatatcagccttcttacacta	5	11	4	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:64425917A>C	uc001jmd.1	+	6	845	c.511A>C	c.(511-513)AAT>CAT	p.N171H	ZNF365_uc001jmc.2_Missense_Mutation_p.N417H|ZNF365_uc001jme.1_RNA|ZNF365_uc001jmf.1_RNA|ZNF365_uc009xpg.1_Intron	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform D	171										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					TCAAAGCAGGAATATCAGCCT	0.388													C	64425917	A	C	64425917	3	2	37	1	0	0	0	0	1	0	0	0	17866	246	9	5	2007	5	ZNF365	10	64425917	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	2582610	64425917	71108830	581	34646											
TET1	80312	broad.mit.edu	37	chr10	70446170	70446170	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttattcctcaagatgagCagctccatgtgctacctctt	8	11	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:70446170C>T	uc001jok.3	+	11	5615	c.5110C>T	c.(5110-5112)CAG>TAG	p.Q1704*		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1704					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						TCAAGATGAGCAGCTCCATGT	0.453													T	70446170	C	T	70446170	4	4	37	1	0	0	0	0	0	1	0	0	15766	711	25	2	5148	2	TET1	10	70446170	Nonsense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	6020253	70446170	65088577	582	34647											
HK1	3098	broad.mit.edu	37	chr10	71129308	71129308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggagcctttggagacgatgGatcattagaagacatccgga	14	7	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:71129308G>A	uc001jpl.3	+	7	904	c.803G>A	c.(802-804)GGA>GAA	p.G268E	HK1_uc001jpg.3_Missense_Mutation_p.G256E|HK1_uc001jph.3_Missense_Mutation_p.G272E|HK1_uc001jpi.3_Missense_Mutation_p.G272E|HK1_uc001jpj.3_Missense_Mutation_p.G303E|HK1_uc001jpk.3_Missense_Mutation_p.G267E|HK1_uc009xqd.2_Missense_Mutation_p.G146E	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	268	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						GGAGACGATGGATCATTAGAA	0.493													A	71129308	G	A	71129308	3	1	37	1	0	0	0	0	1	0	0	0	7190	1174	41	4	1007	4	HK1	10	71129308	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	683138	71129308	64405439	583	34648											
NEUROG3	50674	broad.mit.edu	37	chr10	71332527	71332527	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgcattcgattgcgctcGcggtcgttggccttctttcg	12	11	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:71332527G>A	uc001jpp.2	-	2	431	c.273C>T	c.(271-273)CGC>CGT	p.R91R		NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	91	Basic motif.				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity				0						GATTGCGCTCGCGGTCGTTGG	0.662													A	71332527	G	A	71332527	2	1	37	1	0	0	0	0	0	0	0	1	10354	1074	38	1		1	NEUROG3	10	71332527	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	203219	71332527	64202220	584	34649											
SEC24C	9632	broad.mit.edu	37	chr10	75529233	75529233	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacacgctcatcaactacatGgccaagtttggtgagggtag	12	9	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:75529233G>T	uc001juw.2	+	19	2732	c.2553G>T	c.(2551-2553)ATG>ATT	p.M851I	SEC24C_uc009xrj.1_3'UTR|SEC24C_uc001jux.2_Missense_Mutation_p.M851I|SEC24C_uc010qko.1_Missense_Mutation_p.M732I|SEC24C_uc010qkp.1_Missense_Mutation_p.M99I|SEC24C_uc010qkq.1_Missense_Mutation_p.M99I|FUT11_uc001juy.1_5'Flank|FUT11_uc001juz.1_5'Flank|FUT11_uc001jva.2_5'Flank	NM_004922	NP_004913	P53992	SC24C_HUMAN	SEC24-related protein C	851					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			skin(2)|central_nervous_system(1)	3	Prostate(51;0.0112)					TCAACTACATGGCCAAGTTTG	0.552													T	75529233	G	T	75529233	3	4	37	1	0	0	0	0	1	0	0	0	13996	1348	47	5	2619	5	SEC24C	10	75529233	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	4196706	75529233	60005514	585	34650											
ACTA2	59	broad.mit.edu	37	chr10	90708573	90708573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcacctgatgtctgggacGtcccacaatggatgggaaaa	11	11	2	1	rs112901682		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:90708573G>A	uc001kfp.2	-	2	231	c.115C>T	c.(115-117)CGT>TGT	p.R39C	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Intron|ACTA2_uc001kfq.2_Missense_Mutation_p.R39C|ACTA2_uc010qmz.1_Missense_Mutation_p.R39C	NM_001613	NP_001604	P62736	ACTA_HUMAN	alpha 2 actin	39			R -> H (in AAT6).		response to virus	cytosol	ATP binding				0		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TGTCTGGGACGTCCCACAATG	0.502													A	90708573	G	A	90708573	3	1	37	1	0	0	0	0	1	0	0	0	192	1145	40	1	1050	1	ACTA2	10	90708573	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	15179340	90708573	44826174	586	34651											
IFIT1B	439996	broad.mit.edu	37	chr10	91143709	91143709	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacgagctgtcaggctaaaTccagatgatgtatatattag	9	6	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:91143709T>C	uc001kgh.2	+	2	719	c.639T>C	c.(637-639)AAT>AAC	p.N213N	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	interferon-induced protein with	213	TPR 4.						binding				0						TCAGGCTAAATCCAGATGATG	0.448													C	91143709	T	C	91143709	2	2	37	1	0	0	0	0	0	0	0	1	7522	1432	50	3		3	IFIT1B	10	91143709	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	435136	91143709	44391038	587	34652											
BTAF1	9044	broad.mit.edu	37	chr10	93767970	93767970	+	Frame_Shift_Del	DEL	A	A	-													tggagcaattgttagatgggAaaaaattggaaaattataaa							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:93767969_93767969GA>G	uc001khr.3	+	25	3848	c.3750_3750GA>G	c.(3748-3750)gggfs	p.G1250fs		NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1250					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGTTAGATGGGAAAAAATTGG	0.353													-	93767970	A	-	93767970	7	5	37	1	0	1	0	1	0	0	0	0	1536	247	9	0	3853	0	BTAF1	10	93767970	Frame_Shift_Del	DEL	A	TCGA-BR-6566-01A-11D-1800-08	2624261	93767970	41766777	588	34653											
IDE	3416	broad.mit.edu	37	chr10	94294397	94294397	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtaattggtatgctctccActagtaaaggcatttgaact	8	7	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:94294397A>G	uc001kia.2	-	3	505	c.429T>C	c.(427-429)AGT>AGC	p.S143S		NM_004969	NP_004960	P14735	IDE_HUMAN	insulin-degrading enzyme isoform 1 precursor	143					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TATGCTCTCCACTAGTAAAGG	0.378													G	94294397	A	G	94294397	2	3	37	1	0	0	0	0	0	0	0	1	7493	156	6	3		3	IDE	10	94294397	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	526427	94294397	41240350	589	34654											
PLCE1	51196	broad.mit.edu	37	chr10	96013971	96013971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagtggagaggtaactgacGatgagatggcaacccgaaag	15	6	0	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:96013971G>A	uc001kjk.2	+	10	3938	c.3304G>A	c.(3304-3306)GAT>AAT	p.D1102N	PLCE1_uc010qnx.1_Missense_Mutation_p.D1102N|PLCE1_uc001kjm.2_Missense_Mutation_p.D794N	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1102					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				GGTAACTGACGATGAGATGGC	0.478													A	96013971	G	A	96013971	3	1	37	1	0	0	0	0	1	0	0	0	12034	1058	37	1	3624	1	PLCE1	10	96013971	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1719574	96013971	39520776	590	34655											
NOC3L	64318	broad.mit.edu	37	chr10	96116929	96116929	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attaccagtttattagactcAcctggcttctccctagtctg	6	12	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:96116929A>G	uc001kjq.1	-	4	596	c.508_splice	c.e4+1	p.V170_splice	NOC3L_uc009xuk.1_Splice_Site	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog							nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)				TATTAGACTCACCTGGCTTCT	0.338													G	96116929	A	G	96116929	5	3	37	1	0	0	0	0	0	0	1	0	10514	173	6	3	1964	3	NOC3L	10	96116929	Splice_Site	SNP	A	TCGA-BR-6566-01A-11D-1800-08	102958	96116929	39417818	591	34656											
CUTC	51076	broad.mit.edu	37	chr10	101503026	101503026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtgatgaaggctgacattCgtcttgccaagctttatggt	12	7	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:101503026C>T	uc001kqd.3	+	4	458	c.310C>T	c.(310-312)CGT>TGT	p.R104C	CUTC_uc010qpk.1_Missense_Mutation_p.R104C|CUTC_uc001kqe.3_RNA	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN	cutC copper transporter homolog	104					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GGCTGACATTCGTCTTGCCAA	0.443													T	101503026	C	T	101503026	3	4	37	1	0	0	0	0	1	0	0	0	4063	884	31	1	324	1	CUTC	10	101503026	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	5386097	101503026	34031721	592	34657											
SFXN3	81855	broad.mit.edu	37	chr10	102798404	102798404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtctctccacagcgccGcccctggctgggggcacccc	11	19	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:102798404G>A	uc001ksp.2	+	10	1244	c.788G>A	c.(787-789)CGC>CAC	p.R263H	SFXN3_uc001ksq.2_Missense_Mutation_p.R263H|SFXN3_uc010qpx.1_Missense_Mutation_p.R267H	NM_030971	NP_112233	Q9BWM7	SFXN3_HUMAN	sideroflexin 3	263					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCACAGCGCCGCCCCTGGCTG	0.597											OREG0020454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	102798404	G	A	102798404	3	1	37	1	0	0	0	0	1	0	0	0	14196	1087	38	1	822	1	SFXN3	10	102798404	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1295378	102798404	32736343	593	34658											
KAZALD1	81621	broad.mit.edu	37	chr10	102824653	102824653	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgaggaggaggctgagagTgaagagaatgacgattacta	15	5	0	5			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:102824653T>G	uc001ksr.2	+	5	1816	c.891T>G	c.(889-891)AGT>AGG	p.S297R	KAZALD1_uc001kss.3_RNA|uc001ksu.2_5'Flank	NM_030929	NP_112191	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	297					cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding				0				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		AGGCTGAGAGTGAAGAGAATG	0.532													G	102824653	T	G	102824653	3	3	37	1	0	0	0	0	1	0	0	0	7989	1693	59	5	905	5	KAZALD1	10	102824653	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	26249	102824653	32710094	594	34659											
HPS6	79803	broad.mit.edu	37	chr10	103826834	103826834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctagatgggaatggcaagCtgaggtcccaagcaccccct	12	12	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:103826834C>T	uc001kuj.2	+	1	1688	c.1603C>T	c.(1603-1605)CTG>TTG	p.L535L		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome-6	535						cytosol|early endosome membrane|endoplasmic reticulum|microsome					0		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GAATGGCAAGCTGAGGTCCCA	0.582									Hermansky-Pudlak_syndrome				T	103826834	C	T	103826834	2	4	37	1	0	0	0	0	0	0	0	1	7343	796	28	2		2	HPS6	10	103826834	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1002181	103826834	31707913	595	34660											
LDB1	8861	broad.mit.edu	37	chr10	103867975	103867975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcctcgtcgtcaatgcCgttggctgcgtcaaactggg	13	12	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:103867975C>T	uc009xwz.2	-	11	1454	c.1111G>A	c.(1111-1113)GGC>AGC	p.G371S	LDB1_uc001kuk.3_Missense_Mutation_p.G335S	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN	LIM domain binding 1 isoform 1	371	LIM-binding domain (LID) (By similarity).				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			large_intestine(1)	1		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TCGTCAATGCCGTTGGCTGCG	0.617													T	103867975	C	T	103867975	3	4	37	1	0	0	0	0	1	0	0	0	8695	652	23	1	128	1	LDB1	10	103867975	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	41141	103867975	31666772	596	34661											
SORCS1	114815	broad.mit.edu	37	chr10	108431122	108431123	+	Frame_Shift_Ins	INS	-	-	C													gctcccatgatacatgcttcINScccctgtaagcagagaagga					rs148239041		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:108431121_108431122T>TC	uc001kyl.3	-	15	2244_2245	c.2062_2063A>GA	c.(2062-2064)gaafs	p.E688fs	SORCS1_uc021pxw.1_Frame_Shift_Ins_p.E688fs|SORCS1_uc009xxs.3_Frame_Shift_Ins_p.E688fs|SORCS1_uc001kym.3_Frame_Shift_Ins_p.E688fs|SORCS1_uc001kyn.2_Frame_Shift_Ins_p.E688fs|SORCS1_uc001kyo.3_Frame_Shift_Ins_p.E688fs	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	688						integral to membrane	neuropeptide receptor activity|protein binding	p.G687E(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GATACATGCTTCCCCCTGTAAG	0.436													C	108431123	-	C	108431122	7	5	37	1	0	1	1	0	0	0	0	0	14930	864	30	0	1722	0	SORCS1	10	108431122	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	4563147	108431122	27103625	597	34662											
SORCS1	114815	broad.mit.edu	37	chr10	108924061	108924061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccactgagaacaggggaCgcactacgaggggcaggggc	19	10	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:108924061C>T	uc001kym.2	-	1	232	c.224G>A	c.(223-225)CGT>CAT	p.R75H	SORCS1_uc001kyl.2_Missense_Mutation_p.R75H|SORCS1_uc009xxs.2_Missense_Mutation_p.R75H|SORCS1_uc001kyn.1_Missense_Mutation_p.R75H|SORCS1_uc001kyo.2_Missense_Mutation_p.R75H	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	75	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GAACAGGGGACGCACTACGAG	0.736													T	108924061	C	T	108924061	3	4	37	1	0	0	0	0	1	0	0	0	14930	536	19	1	3620	1	SORCS1	10	108924061	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	492939	108924061	26610686	598	34663											
SORCS1	114815	broad.mit.edu	37	chr10	108924097	108924097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcgtggcaggagccctgCctggccgcccctggtgggaa	19	13	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:108924097C>T	uc001kym.2	-	1	196	c.188G>A	c.(187-189)GGC>GAC	p.G63D	SORCS1_uc001kyl.2_Missense_Mutation_p.G63D|SORCS1_uc009xxs.2_Missense_Mutation_p.G63D|SORCS1_uc001kyn.1_Missense_Mutation_p.G63D|SORCS1_uc001kyo.2_Missense_Mutation_p.G63D	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	63	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGGAGCCCTGCCTGGCCGCCC	0.756													T	108924097	C	T	108924097	3	4	37	1	0	0	0	0	1	0	0	0	14930	739	26	2	3656	2	SORCS1	10	108924097	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	36	108924097	26610650	599	34664											
ACSL5	51703	broad.mit.edu	37	chr10	114169371	114169372	+	Frame_Shift_Ins	INS	-	-	C													aggtgatcatccttatggacINSccctttgatgatgacctgaa					rs144937522		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:114169370_114169371A>AC	uc001kzu.3	+	6	918_919	c.806_807A>AC	c.(805-807)gacfs	p.D269fs	ACSL5_uc001kzs.3_Frame_Shift_Ins_p.D213fs|ACSL5_uc001kzt.3_Frame_Shift_Ins_p.D213fs|ACSL5_uc009xxz.3_Frame_Shift_Ins_p.D213fs|ACSL5_uc010qrj.2_5'UTR	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	213					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ATCCTTATGGACCCCTTTGATG	0.47													C	114169372	-	C	114169371	7	5	37	1	0	1	1	0	0	0	0	0	180	506	18	0	833	0	ACSL5	10	114169371	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	5245274	114169371	21365376	600	34665											
PDZD8	118987	broad.mit.edu	37	chr10	119042898	119042899	+	Frame_Shift_Ins	INS	-	-	T													tcatctgtgtacttgcttatINSttttttggagtgctggtcta							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:119042897_119042898A>AT	uc001lde.1	-	4	3545_3546	c.3346_3347T>AT	c.(3346-3348)atafs	p.I1116fs		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	1116					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GTACTTGCTTATTTTTTTGGAG	0.371													T	119042899	-	T	119042898	7	5	37	1	0	1	1	0	0	0	0	0	11705	1493	52	0	122	0	PDZD8	10	119042898	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	4873527	119042898	16491849	601	34666											
RAB11FIP2	22841	broad.mit.edu	37	chr10	119805671	119805671	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcttgctcggacagcaTcatcctgtcctgtttctctg	10	12	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:119805671T>G	uc001ldj.1	-	1	444	c.4A>C	c.(4-6)ATG>CTG	p.M2L	RAB11FIP2_uc009xyz.1_Missense_Mutation_p.M2L|CASC2_uc001ldm.3_5'Flank|CASC2_uc009xzc.2_5'Flank|CASC2_uc001ldk.2_5'Flank|CASC2_uc009xza.2_5'Flank|CASC2_uc009xzb.2_5'Flank	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2	2	C2.				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity				0		Colorectal(252;0.235)		all cancers(201;0.0238)		TCGGACAGCATCATCCTGTCC	0.532													G	119805671	T	G	119805671	3	3	37	1	0	0	0	0	1	0	0	0	12894	1435	50	5	1554	5	RAB11FIP2	10	119805671	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	762773	119805671	15729076	602	34667											
INPP5F	22876	broad.mit.edu	37	chr10	121556339	121556339	+	Frame_Shift_Del	DEL	C	C	-													tgagaaaagcagcccagagaCcccccctcaggagtccacct							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:121556338_121556338AC>A	uc001leo.3	+	6	997	c.781_781AC>A	c.(781-783)accfs	p.T261fs		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	261	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CAGCCCAGAGACCCCCCCTCA	0.483													-	121556339	C	-	121556339	7	5	37	1	0	1	0	1	0	0	0	0	7758	507	18	0	808	0	INPP5F	10	121556339	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	1750668	121556339	13978408	603	34668											
WDR11	55717	broad.mit.edu	37	chr10	122622315	122622316	+	Frame_Shift_Ins	INS	-	-	A													gcctccctcaggccctgggaINSaaaaagtttacatatccagc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:122622314_122622315G>GA	uc021pzt.1	+	4	840_841	c.594_595G>GA	c.(592-597)gggaaafs	p.G198fs	WDR11_uc010qte.2_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	198						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CAGGCCCTGGGAAAAAAGTTTA	0.431													A	122622316	-	A	122622315	7	5	37	1	0	1	1	0	0	0	0	0	17270	247	9	0	613	0	WDR11	10	122622315	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	1065976	122622315	12912432	604	34669											
FGFR2	2263	broad.mit.edu	37	chr10	123256201	123256201	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaggtattctcggaggttgcCtttagaggcatactcaacta	11	8	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:123256201C>G	uc010qtk.1	-	14	2355	c.1708G>C	c.(1708-1710)GGC>CGC	p.G570R	FGFR2_uc010qtg.1_Missense_Mutation_p.G458R|FGFR2_uc010qth.1_Missense_Mutation_p.G455R|FGFR2_uc010qti.1_Missense_Mutation_p.G481R|FGFR2_uc010qtj.1_Missense_Mutation_p.G571R|FGFR2_uc010qtl.1_Missense_Mutation_p.G454R|FGFR2_uc010qtm.1_Missense_Mutation_p.G453R|FGFR2_uc001lfl.3_Missense_Mutation_p.G571R|FGFR2_uc001lfm.2_Missense_Mutation_p.G482R|FGFR2_uc001lfg.3_Missense_Mutation_p.G178R	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	570	Cytoplasmic (Potential).|Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CGGAGGTTGCCTTTAGAGGCA	0.522		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				G	123256201	C	G	123256201	3	3	37	1	0	0	0	0	1	0	0	0	5866	681	24	5	885	5	FGFR2	10	123256201	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	633886	123256201	12278546	605	34670											
NPS	594857	broad.mit.edu	37	chr10	129347763	129347763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactttgcagctcagtaaaaCtcaatctcatcctagttctg	5	11	4	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:129347763C>T	uc001ljx.1	+	2	39	c.19C>T	c.(19-21)CTC>TTC	p.L7F		NM_001030013	NP_001025184	P0C0P6	NPS_HUMAN	neuropeptide S precursor	7					neuropeptide signaling pathway	extracellular region					0						CTCAGTAAAACTCAATCTCAT	0.358													T	129347763	C	T	129347763	3	4	37	1	0	0	0	0	1	0	0	0	10599	565	20	4	25	4	NPS	10	129347763	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	6091562	129347763	6186984	606	34671											
JAKMIP3	282973	broad.mit.edu	37	chr10	133963530	133963530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagctggacatcctgggCgataacgccgtaagtgtatg	13	8	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:133963530C>T	uc001lkx.3	+	15	1992	c.1992C>T	c.(1990-1992)GGC>GGT	p.G664G	JAKMIP3_uc009yba.1_Silent_p.G101G	NM_001105521	NP_001098991			Janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		ACATCCTGGGCGATAACGCCG	0.587													T	133963530	C	T	133963530	2	4	37	1	0	0	0	0	0	0	0	1	7942	755	27	1		1	JAKMIP3	10	133963530	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	4615767	133963530	1571217	607	34672											
CDHR5	53841	broad.mit.edu	37	chr11	618634	618634	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgctgaggggcatcggcTgagaggttcctggctctggg	17	9	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:618634T>C	uc001lqj.2	-	13	2030	c.1925A>G	c.(1924-1926)CAG>CGG	p.Q642R	IRF7_uc010qwf.1_5'Flank|IRF7_uc001lqf.2_5'Flank|IRF7_uc010qwg.1_5'Flank|IRF7_uc001lqg.2_5'Flank|IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Intron|CDHR5_uc009ycc.2_Missense_Mutation_p.Q476R|CDHR5_uc009ycd.2_Missense_Mutation_p.Q636R|CDHR5_uc001lql.2_Missense_Mutation_p.Q642R	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	642	4 X 31 AA approximate tandem repeats.|Extracellular (Potential).|4; truncated.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						GGGCATCGGCTGAGAGGTTCC	0.622													C	618634	T	C	618634	3	2	37	1	0	0	0	0	1	0	0	0	3122	1580	55	3	624	3	CDHR5	11	618634	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08		618634	134387882	608	34673											
CTSD	1509	broad.mit.edu	37	chr11	1774897	1774897	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagggtcttcccggcctgcgAcacctgggacggccctggtg	16	14	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:1774897A>G	uc001luc.1	-	9	1208	c.1075T>C	c.(1075-1077)TCG>CCG	p.S359P	CTSD_uc009yda.1_RNA	NM_001909	NP_001900	P07339	CATD_HUMAN	cathepsin D preproprotein	359					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity				0		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCGGCCTGCGACACCTGGGAC	0.711													G	1774897	A	G	1774897	3	3	37	1	0	0	0	0	1	0	0	0	4032	275	10	3	167	3	CTSD	11	1774897	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	1156263	1774897	133231619	609	34674											
OR51B6	390058	broad.mit.edu	37	chr11	5373205	5373205	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggtctgtccattatgccAatagttgttcgcctacactg	9	11	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:5373205A>G	uc010qzb.1	+	1	468	c.468A>G	c.(466-468)CCA>CCG	p.P156P	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B,	156	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATTATGCCAATAGTTGTTC	0.493													G	5373205	A	G	5373205	2	3	37	1	0	0	0	0	0	0	0	1	11092	117	5	3		3	OR51B6	11	5373205	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	3598308	5373205	129633311	610	34675											
OR51I2	390064	broad.mit.edu	37	chr11	5475541	5475541	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccatgctacatacatgtcCtcatgtcaaatgtgtaccta	5	12	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:5475541C>A	uc010qzf.1	+	1	823	c.823C>A	c.(823-825)CTC>ATC	p.L275I	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I,	275	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATACATGTCCTCATGTCAAA	0.473													A	5475541	C	A	5475541	3	1	37	1	0	0	0	0	1	0	0	0	11101	681	24	5	825	5	OR51I2	11	5475541	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	102336	5475541	129530975	611	34676											
OR52B6	340980	broad.mit.edu	37	chr11	5602431	5602431	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggccaatttgtggctaggtTatagcctcatttcctttgat	9	8	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:5602431T>A	uc010qzi.1	+	1	325	c.325T>A	c.(325-327)TAT>AAT	p.Y109N	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	109	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGCTAGGTTATAGCCTCAT	0.498													A	5602431	T	A	5602431	3	1	37	1	0	0	0	0	1	0	0	0	11113	1754	61	5	327	5	OR52B6	11	5602431	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	126890	5602431	129404085	612	34677											
OR52E4	390081	broad.mit.edu	37	chr11	5906226	5906226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttccctctcaagatgtccGactaaaggccttcaatacct	5	15	2	1	rs141226100		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:5906226G>A	uc010qzs.1	+	1	704	c.704G>A	c.(703-705)CGA>CAA	p.R235Q	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGATGTCCGACTAAAGGCC	0.398													A	5906226	G	A	5906226	3	1	37	1	0	0	0	0	1	0	0	0	11116	1058	37	1	706	1	OR52E4	11	5906226	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	303795	5906226	129100290	613	34678											
CCKBR	887	broad.mit.edu	37	chr11	6292358	6292358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggagctgacggcgctgaCggctcctgggccgggatccg	17	14	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:6292358C>T	uc001mcp.2	+	5	1122	c.929C>T	c.(928-930)ACG>ATG	p.T310M	CCKBR_uc001mcq.2_Missense_Mutation_p.T238M|CCKBR_uc001mcr.2_Missense_Mutation_p.T310M|CCKBR_uc001mcs.2_Missense_Mutation_p.T379M|CCKBR_uc001mct.1_RNA	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	310	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	ACGGCGCTGACGGCTCCTGGG	0.652													T	6292358	C	T	6292358	3	4	37	1	0	0	0	0	1	0	0	0	2881	536	19	1	947	1	CCKBR	11	6292358	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	386132	6292358	128714158	614	34679											
DNHD1	144132	broad.mit.edu	37	chr11	6520167	6520167	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cactgacaatgcagaggtggAgcctgttggaagaaaagaga	14	6	0	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:6520167A>T	uc001mdw.3	+	3	1286	c.722A>T	c.(721-723)GAG>GTG	p.E241V	DNHD1_uc001mdp.2_Missense_Mutation_p.E241V	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	241					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCAGAGGTGGAGCCTGTTGGA	0.527													T	6520167	A	T	6520167	3	4	37	1	0	0	0	0	1	0	0	0	4668	304	11	5	724	5	DNHD1	11	6520167	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	227809	6520167	128486349	615	34680											
DCHS1	8642	broad.mit.edu	37	chr11	6662142	6662143	+	Frame_Shift_Ins	INS	-	-	G													agcagggcctgggccctccgINSggggggtgaaccaccatcat					rs143767864	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:6662141_6662142C>CG	uc001mem.1	-	1	1104_1105	c.703_704G>CG	c.(703-705)cggfs	p.R235fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGAA	0.589													G	6662143	-	G	6662142	7	5	37	1	0	1	1	0	0	0	0	0	4287	1115	39	0	9273	0	DCHS1	11	6662142	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	141975	6662142	128344374	616	34681											
AMPD3	272	broad.mit.edu	37	chr11	10483162	10483162	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctaaagtgctccgagaagaGgacagcaaagatgccctgtc	12	10	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:10483162G>T	uc001mio.1	+	2	431	c.96G>T	c.(94-96)GAG>GAT	p.E32D	AMPD3_uc010rbz.1_Translation_Start_Site|AMPD3_uc001min.1_Missense_Mutation_p.E41D|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Missense_Mutation_p.E32D|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.E39D|AMPD3_uc009yfy.2_Missense_Mutation_p.E32D	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	32					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TCCGAGAAGAGGACAGCAAAG	0.577													T	10483162	G	T	10483162	3	4	37	1	0	0	0	0	1	0	0	0	587	991	35	5	149	5	AMPD3	11	10483162	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3821020	10483162	124523354	617	34682											
MRVI1	10335	broad.mit.edu	37	chr11	10673666	10673666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctgctgggagtggccaCgtgtgcccggaacctccgct	13	16	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:10673666C>T	uc010rcc.1	-	2	517	c.131G>A	c.(130-132)CGT>CAT	p.R44H	MRVI1_uc001miw.2_Missense_Mutation_p.R35H|MRVI1_uc010rcb.1_Missense_Mutation_p.R35H|MRVI1_uc009ygb.1_Translation_Start_Site|MRVI1_uc001mix.2_Translation_Start_Site|MRVI1_uc001miz.2_Intron|MRVI1_uc009ygc.1_Intron|MRVI1_uc010rcd.1_Missense_Mutation_p.R44H|MRVI1_uc009ygd.1_Intron	NM_001100167	NP_001093637	Q9Y6F6	MRVI1_HUMAN	JAW1-related protein isoform c	35					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		p.M44I(1)		ovary(2)|central_nervous_system(1)	3				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGAGTGGCCACGTGTGCCCGG	0.647													T	10673666	C	T	10673666	3	4	37	1	0	0	0	0	1	0	0	0	9853	536	19	1	2687	1	MRVI1	11	10673666	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	190504	10673666	124332850	618	34683											
SPON1	10418	broad.mit.edu	37	chr11	14156984	14156984	+	Missense_Mutation	SNP	C	C	T													aggtcgggccaaccactggtCtgcgatcatcggaggatccc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:14156984C>T	uc001mle.2	+	7	1233	c.695C>T	c.(694-696)TCT>TTT	p.S232F		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	232	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)		AACCACTGGTCTGCGATCATC	0.522													T	14156984	C	T	14156984	3	4	37	1	0	0	0	0	1	0	0	0	15081	913	32	4	716	4	SPON1	11	14156984	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3483318	14156984	120849532	619	34684	116	2									
SPON1	10418	broad.mit.edu	37	chr11	14156987	14156987	+	Missense_Mutation	SNP	C	C	T													tcgggccaaccactggtctgCgatcatcggaggatcccact							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:14156987C>T	uc001mle.2	+	7	1236	c.698C>T	c.(697-699)GCG>GTG	p.A233V		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	233	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)		CACTGGTCTGCGATCATCGGA	0.532													T	14156987	C	T	14156987	3	4	37	1	0	0	0	0	1	0	0	0	15081	768	27	1	719	1	SPON1	11	14156987	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3	14156987	120849529	620	34685	116	2									
PDE3B	5140	broad.mit.edu	37	chr11	14852374	14852374	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggctaacagaagaggcacaGagtgaacagcaaacaaatgt	11	7	0	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:14852374G>T	uc001mln.2	+	8	2291	c.1938G>T	c.(1936-1938)CAG>CAT	p.Q646H	PDE3B_uc010rcr.1_Missense_Mutation_p.Q595H	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	646					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						AAGAGGCACAGAGTGAACAGC	0.338													T	14852374	G	T	14852374	3	4	37	1	0	0	0	0	1	0	0	0	11638	933	33	5	1968	5	PDE3B	11	14852374	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	695387	14852374	120154142	621	34686											
ABCC8	6833	broad.mit.edu	37	chr11	17428671	17428671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctcctcgctctcagctgCctcctctgcaggccgcaaga	8	18	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:17428671C>T	uc001mnc.2	-	25	3052	c.2926G>A	c.(2926-2928)GCA>ACA	p.A976T		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	976	Cytoplasmic (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTCTCAGCTGCCTCCTCTGCA	0.443													T	17428671	C	T	17428671	3	4	37	1	0	0	0	0	1	0	0	0	58	739	26	2	1879	2	ABCC8	11	17428671	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2576297	17428671	117577845	622	34687											
E2F8	79733	broad.mit.edu	37	chr11	19253779	19253779	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaagaaaaaaatacatAccactggtatttggactgat	9	5	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:19253779A>G	uc001mpm.2	-	7	1588	c.1066_splice	c.e7+1	p.G356_splice	E2F8_uc009yhv.2_Intron|E2F8_uc001mpn.3_Splice_Site_p.G356_splice	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8						cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						AAAAATACATACCACTGGTAT	0.303													G	19253779	A	G	19253779	5	3	37	1	0	0	0	0	0	0	1	0	4873	405	14	3	1563	3	E2F8	11	19253779	Splice_Site	SNP	A	TCGA-BR-6566-01A-11D-1800-08	1825108	19253779	115752737	623	34688											
NAV2	89797	broad.mit.edu	37	chr11	20127169	20127169	+	Frame_Shift_Del	DEL	G	G	-													ggaaacagagatcagtgggcGggtgcgcaatatggagctgg					rs142419246		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:20127168_20127168CG>C	uc010rdm.2	+	36	7265	c.6904_6904CG>C	c.(6904-6906)cggfs	p.R2302fs	NAV2_uc001mpp.3_Frame_Shift_Del_p.R2182fs|NAV2_uc001mpr.4_Frame_Shift_Del_p.R2246fs|NAV2_uc021qew.1_Frame_Shift_Del_p.R2249fs|NAV2_uc009yhx.3_Frame_Shift_Del_p.R1310fs|NAV2_uc009yhz.3_Frame_Shift_Del_p.R891fs|NAV2_uc001mpu.3_Frame_Shift_Del_p.R684fs|NAV2_uc001mpv.3_Frame_Shift_Del_p.R8fs	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	2305						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GATCAGTGGGCGGGTGCGCAA	0.547													-	20127169	G	-	20127169	7	5	37	1	0	1	0	1	0	0	0	0	10184	1116	39	0	6993	0	NAV2	11	20127169	Frame_Shift_Del	DEL	G	TCGA-BR-6566-01A-11D-1800-08	873390	20127169	114879347	624	34689											
KCNA4	3739	broad.mit.edu	37	chr11	30033234	30033234	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatccctgtcgtccctaaacTcaggcaaggtttccaggcaa	9	13	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:30033234T>G	uc001msk.2	-	2	2144	c.992A>C	c.(991-993)GAG>GCG	p.E331A		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	331						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GTCCCTAAACTCAGGCAAGGT	0.527													G	30033234	T	G	30033234	3	3	37	1	0	0	0	0	1	0	0	0	8005	1551	54	5	973	5	KCNA4	11	30033234	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	9906065	30033234	104973282	625	34690											
FSHB	2488	broad.mit.edu	37	chr11	30255240	30255240	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagattccttgtatacatacCcagtggccacccagtgtcac	7	14	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:30255240C>A	uc001msl.2	+	3	352	c.283C>A	c.(283-285)CCA>ACA	p.P95T	FSHB_uc001msm.2_Missense_Mutation_p.P95T|FSHB_uc001msn.2_Missense_Mutation_p.P95T	NM_000510	NP_000501	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	95					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			ovary(3)	3					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	GTATACATACCCAGTGGCCAC	0.522													A	30255240	C	A	30255240	3	1	37	1	0	0	0	0	1	0	0	0	6072	623	22	5	289	5	FSHB	11	30255240	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	222006	30255240	104751276	626	34691											
TP53I11	9537	broad.mit.edu	37	chr11	44956568	44956568	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctagcgtggcagtgaccActgtgggagagagtccagca	15	10	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:44956568A>G	uc001myi.2	-	10	1042	c.437T>C	c.(436-438)GTG>GCG	p.V146A	TP53I11_uc001myf.1_Intron|TP53I11_uc001myj.2_Missense_Mutation_p.V146A|TP53I11_uc001myk.2_Missense_Mutation_p.V146A|TP53I11_uc001myl.2_Missense_Mutation_p.V146A|TP53I11_uc001mym.2_Missense_Mutation_p.V93A	NM_006034	NP_006025	O14683	P5I11_HUMAN	p53-induced protein	146	Helical; (Potential).				negative regulation of cell proliferation|response to stress	integral to membrane				ovary(1)	1						GGCAGTGACCACTGTGGGAGA	0.622													G	44956568	A	G	44956568	3	3	37	1	0	0	0	0	1	0	0	0	16382	173	6	3	136	3	TP53I11	11	44956568	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	14701328	44956568	90049948	627	34692											
GYLTL1B	120071	broad.mit.edu	37	chr11	45949811	45949811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtaccgtgtgcaatgggCggccaactatgaaccctacg	11	14	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:45949811C>T	uc001nbv.1	+	13	1949	c.1838C>T	c.(1837-1839)GCG>GTG	p.A613V	GYLTL1B_uc001nbw.1_Missense_Mutation_p.A582V|GYLTL1B_uc001nbx.1_Missense_Mutation_p.A613V|GYLTL1B_uc001nby.1_Missense_Mutation_p.A296V|GYLTL1B_uc001nbz.1_Intron	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	613	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)		GTGCAATGGGCGGCCAACTAT	0.642													T	45949811	C	T	45949811	3	4	37	1	0	0	0	0	1	0	0	0	6907	768	27	1	1884	1	GYLTL1B	11	45949811	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	993243	45949811	89056705	628	34693											
AMBRA1	55626	broad.mit.edu	37	chr11	46465080	46465080	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacttagtgaagtcccaccActggagccggtaggtagtat	11	9	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:46465080A>G	uc010rgu.1	-	12	2950	c.2590T>C	c.(2590-2592)TGG>CGG	p.W864R	AMBRA1_uc010rgt.1_Missense_Mutation_p.W430R|AMBRA1_uc009ylc.1_Missense_Mutation_p.W835R|AMBRA1_uc001ncu.1_Missense_Mutation_p.W774R|AMBRA1_uc001ncv.2_Missense_Mutation_p.W867R|AMBRA1_uc001ncw.2_Missense_Mutation_p.W745R|AMBRA1_uc001ncx.2_Missense_Mutation_p.W804R	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	864					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AAGTCCCACCACTGGAGCCGG	0.473													G	46465080	A	G	46465080	3	3	37	1	0	0	0	0	1	0	0	0	565	159	6	3	1334	3	AMBRA1	11	46465080	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	515269	46465080	88541436	629	34694											
ARHGAP1	392	broad.mit.edu	37	chr11	46700719	46700719	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccacagcaggttagggccGaaaacaacagccaggttagt	12	11	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:46700719G>A	uc001ndd.2	-	13	1257	c.1188C>T	c.(1186-1188)TTC>TTT	p.F396F		NM_004308	NP_004299	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	396	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			skin(1)	1		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GGTTAGGGCCGAAAACAACAG	0.537													A	46700719	G	A	46700719	2	1	37	1	0	0	0	0	0	0	0	1	861	1049	37	1		1	ARHGAP1	11	46700719	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	235639	46700719	88305797	630	34695											
CKAP5	9793	broad.mit.edu	37	chr11	46829626	46829626	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcataatcgccagcttccagTttggggttttttattagtac	9	8	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:46829626T>C	uc001ndi.1	-	8	1043	c.933A>G	c.(931-933)AAA>AAG	p.K311K	CKAP5_uc009ylg.1_Silent_p.K197K|CKAP5_uc001ndj.1_Silent_p.K311K	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	311					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						CAGCTTCCAGTTTGGGGTTTT	0.388													C	46829626	T	C	46829626	2	2	37	1	0	0	0	0	0	0	0	1	3445	1722	60	3		3	CKAP5	11	46829626	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	128907	46829626	88176890	631	34696											
SLC39A13	91252	broad.mit.edu	37	chr11	47431758	47431758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttcccagccggccctccGgagccgggggactgcgacgg	18	15	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:47431758G>A	uc009ylq.2	+	2	284	c.113G>A	c.(112-114)CGG>CAG	p.R38Q	SLC39A13_uc001nfd.2_Missense_Mutation_p.R38Q|SLC39A13_uc001nfe.1_RNA|SLC39A13_uc001nff.3_Missense_Mutation_p.R38Q|SLC39A13_uc001nfg.3_Missense_Mutation_p.R38Q	NM_001128225	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter),	38	Cytoplasmic (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity				0				Lung(87;0.0936)		CCGGCCCTCCGGAGCCGGGGG	0.692													A	47431758	G	A	47431758	3	1	37	1	0	0	0	0	1	0	0	0	14616	1116	39	1	115	1	SLC39A13	11	47431758	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	602132	47431758	87574758	632	34697											
C1QTNF4	114900	broad.mit.edu	37	chr11	47611775	47611775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcgagtggttggtgccgCggcccggggccagcgtccga	19	12	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:47611775C>T	uc001ngc.2	-	2	855	c.588G>A	c.(586-588)CCG>CCA	p.P196P		NM_031909	NP_114115	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	196	C1q 2.					extracellular region					0						GTTGGTGCCGCGGCCCGGGGC	0.612													T	47611775	C	T	47611775	2	4	37	1	0	0	0	0	0	0	0	1	1965	755	27	1		1	C1QTNF4	11	47611775	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	180017	47611775	87394741	633	34698											
OR4S1	256148	broad.mit.edu	37	chr11	48328082	48328082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccagctcttttctgcccActtctttggtggcactgaga	9	13	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:48328082A>G	uc010rhu.1	+	1	308	c.308A>G	c.(307-309)CAC>CGC	p.H103R		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S,	103	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TTTTCTGCCCACTTCTTTGGT	0.498													G	48328082	A	G	48328082	3	3	37	1	0	0	0	0	1	0	0	0	11082	159	6	3	310	3	OR4S1	11	48328082	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	716307	48328082	86678434	634	34699											
OR8I2	120586	broad.mit.edu	37	chr11	55861106	55861106	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacttttttgttggattggTgtgttgtgagtgtttccttc	12	4	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:55861106T>C	uc010rix.1	+	1	323	c.323T>C	c.(322-324)GTG>GCG	p.V108A		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	108	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					GTTGGATTGGTGTGTTGTGAG	0.418													C	55861106	T	C	55861106	3	2	37	1	0	0	0	0	1	0	0	0	11240	1696	59	3	325	3	OR8I2	11	55861106	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	7533024	55861106	79145410	635	34700											
SLC43A3	29015	broad.mit.edu	37	chr11	57185246	57185246	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgtagttggggggcagtgGgtatgggatgtgcccccggg	21	7	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:57185246G>T	uc001nkg.2	-	8	1056	c.646C>A	c.(646-648)CCA>ACA	p.P216T	PRG2_uc001nke.2_Missense_Mutation_p.P115T|SLC43A3_uc001nkh.2_Missense_Mutation_p.P216T|SLC43A3_uc010rjr.1_Missense_Mutation_p.P229T|SLC43A3_uc009yme.2_Missense_Mutation_p.P216T|SLC43A3_uc001nki.2_Missense_Mutation_p.P216T|SLC43A3_uc009ymf.1_Missense_Mutation_p.P216T|SLC43A3_uc010rjs.1_Missense_Mutation_p.P216T|SLC43A3_uc009ymg.1_Missense_Mutation_p.P229T	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	216					transmembrane transport	integral to membrane				central_nervous_system(1)	1						GGGGGCAGTGGGTATGGGATG	0.577													T	57185246	G	T	57185246	3	4	37	1	0	0	0	0	1	0	0	0	14634	1232	43	5	857	5	SLC43A3	11	57185246	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1324140	57185246	77821270	636	34701											
SLC43A1	8501	broad.mit.edu	37	chr11	57281506	57281508	+	In_Frame_Del	DEL	AGA	AGA	-													ccagcccaggagtacagcagAgaagaagaggttctccagca							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:57281506_57281508delAGA	uc001nkk.2	-	2	195_197	c.77_79delTCT	c.(76-81)TTCTCT>TCT	p.F26del	SLC43A1_uc001nkl.2_In_Frame_Del_p.F26del	NM_003627	NP_003618	O75387	LAT3_HUMAN	solute carrier family 43, member 1	26	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity				0						AGTACAGCAGAGAAGAAGAGGTT	0.611													-	57281508	AGA	-	57281506	7	5	37	1	0	1	0	1	0	0	0	0	14632	304	11	0	1656	0	SLC43A1	11	57281506	In_Frame_Del	DEL	AGA	TCGA-BR-6566-01A-11D-1800-08	96260	57281506	77725010	637	34702											
CTNND1	1500	broad.mit.edu	37	chr11	57575890	57575890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacatccgctctgctctgcGtcaagagaaggctctttctg	9	12	5	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:57575890G>A	uc001nmc.3	+	14	2691	c.2120G>A	c.(2119-2121)CGT>CAT	p.R707H	CTNND1_uc001nlh.1_Missense_Mutation_p.R707H|CTNND1_uc001nlu.3_Missense_Mutation_p.R600H|CTNND1_uc001nlt.3_Missense_Mutation_p.R600H|CTNND1_uc001nls.3_Missense_Mutation_p.R600H|CTNND1_uc001nlw.3_Missense_Mutation_p.R600H|CTNND1_uc001nmf.3_Missense_Mutation_p.R707H|CTNND1_uc001nmd.3_Missense_Mutation_p.R653H|CTNND1_uc001nlk.3_Missense_Mutation_p.R653H|CTNND1_uc001nme.3_Missense_Mutation_p.R701H|CTNND1_uc001nll.3_Missense_Mutation_p.R647H|CTNND1_uc001nmg.3_Missense_Mutation_p.R647H|CTNND1_uc001nlj.3_Missense_Mutation_p.R647H|CTNND1_uc001nlr.3_Missense_Mutation_p.R647H|CTNND1_uc001nlp.3_Missense_Mutation_p.R647H|CTNND1_uc001nlx.3_Missense_Mutation_p.R384H|CTNND1_uc001nlz.3_Missense_Mutation_p.R384H|CTNND1_uc009ymn.2_Missense_Mutation_p.R378H|CTNND1_uc001nlm.3_Missense_Mutation_p.R701H|CTNND1_uc001nly.3_Missense_Mutation_p.R378H|CTNND1_uc001nmb.3_Missense_Mutation_p.R378H|CTNND1_uc001nma.3_Missense_Mutation_p.R378H|CTNND1_uc001nmi.3_Missense_Mutation_p.R606H|CTNND1_uc001nmh.3_Missense_Mutation_p.R701H|CTNND1_uc001nlq.3_Missense_Mutation_p.R606H|CTNND1_uc001nln.3_Missense_Mutation_p.R701H|CTNND1_uc001nli.3_Missense_Mutation_p.R701H|CTNND1_uc001nlo.3_Missense_Mutation_p.R600H|CTNND1_uc001nlv.3_Missense_Mutation_p.R600H	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	707	ARM 8.				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)				TCTGCTCTGCGTCAAGAGAAG	0.458													A	57575890	G	A	57575890	3	1	37	1	0	0	0	0	1	0	0	0	4019	1145	40	1	2166	1	CTNND1	11	57575890	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	294384	57575890	77430626	638	34703											
TCN1	6947	broad.mit.edu	37	chr11	59622135	59622135	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagacctacccaaatatagTatcattcattttctgggctt	5	10	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:59622135T>C	uc001noj.2	-	7	1209	c.1111A>G	c.(1111-1113)ACT>GCT	p.T371A		NM_001062	NP_001053	P20061	TCO1_HUMAN	transcobalamin I precursor	371					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			ovary(2)	2		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCAAATATAGTATCATTCATT	0.358													C	59622135	T	C	59622135	3	2	37	1	0	0	0	0	1	0	0	0	15703	1638	57	3	202	3	TCN1	11	59622135	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	2046245	59622135	75384381	639	34704											
TMEM109	79073	broad.mit.edu	37	chr11	60689416	60689416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttgtcatcttcctggccGgcttcgtggccctgatgagg	13	12	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:60689416G>A	uc001nqg.2	+	4	889	c.511G>A	c.(511-513)GGC>AGC	p.G171S	TMEM109_uc001nqh.2_Missense_Mutation_p.G171S|TMEM132A_uc001nqi.2_5'Flank|TMEM132A_uc001nqj.2_5'Flank	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	transmembrane protein 109 precursor	171	Helical; (Potential).					integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane					0						CTTCCTGGCCGGCTTCGTGGC	0.657													A	60689416	G	A	60689416	3	1	37	1	0	0	0	0	1	0	0	0	16022	1116	39	1	521	1	TMEM109	11	60689416	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1067281	60689416	74317100	640	34705											
C11orf9	745	broad.mit.edu	37	chr11	61533569	61533569	+	Frame_Shift_Del	DEL	C	C	-													ggcgccatggtcccctcccaCccccgggctacggcaccccg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:61533568_61533568AC>A	uc001nsc.1	+	2	369	c.273_273AC>A	c.(271-273)ccafs	p.P91fs	C11orf9_uc001nse.1_Frame_Shift_Del_p.P82fs	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	91	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						GTCCCCTCCCACCCCCGGGCT	0.736													-	61533569	C	-	61533569	7	5	37	1	0	1	0	1	0	0	0	0	1671	507	18	0	307	0	C11orf9	11	61533569	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	844153	61533569	73472947	641	34706											
INCENP	3619	broad.mit.edu	37	chr11	61912511	61912511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggaggccgagcagctgCgcaggcagaaggtggaggag	21	7	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:61912511C>T	uc001nsw.1	+	12	1865	c.1663C>T	c.(1663-1665)CGC>TGC	p.R555C	INCENP_uc009ynw.1_Missense_Mutation_p.R555C|INCENP_uc001nsx.1_Missense_Mutation_p.R551C|INCENP_uc001nsy.1_5'UTR	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	555	Potential.				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1						CGAGCAGCTGCGCAGGCAGAA	0.672													T	61912511	C	T	61912511	3	4	37	1	0	0	0	0	1	0	0	0	7733	768	27	1	1705	1	INCENP	11	61912511	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	378942	61912511	73094005	642	34707											
ATL3	25923	broad.mit.edu	37	chr11	63398579	63398579	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacgatattgaccagaatacCtgatgtagccccaggtgagg	11	10	0	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:63398579C>A	uc001nxk.1	-	12	1748	c.1472G>T	c.(1471-1473)AGG>ATG	p.R491M	ATL3_uc010rms.1_Missense_Mutation_p.R473M|ATL3_uc010rmr.1_Missense_Mutation_p.R149M	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	atlastin 3	491	Cytoplasmic.				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			pancreas(1)	1						ACCAGAATACCTGATGTAGCC	0.502													A	63398579	C	A	63398579	3	1	37	1	0	0	0	0	1	0	0	0	1108	681	24	5	161	5	ATL3	11	63398579	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1486068	63398579	71607937	643	34708											
ATL3	25923	broad.mit.edu	37	chr11	63398938	63398938	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaataaggtttctctcccccAcaaacctaaaaagaacaaag	4	11	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:63398938A>C	uc001nxk.1	-	12	1389	c.1113T>G	c.(1111-1113)TGT>TGG	p.C371W	ATL3_uc010rms.1_Missense_Mutation_p.C353W|ATL3_uc010rmr.1_Missense_Mutation_p.C29W	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	atlastin 3	371	Cytoplasmic.				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			pancreas(1)	1						TCTCTCCCCCACAAACCTAAA	0.338													C	63398938	A	C	63398938	3	2	37	1	0	0	0	0	1	0	0	0	1108	157	6	5	520	5	ATL3	11	63398938	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	359	63398938	71607578	644	34709											
PLCB3	5331	broad.mit.edu	37	chr11	64028918	64028918	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgaggagatgtccacgcTtgtcaactacatcgaacctg	9	12	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:64028918T>G	uc001nzb.2	+	15	1778	c.1778T>G	c.(1777-1779)CTT>CGT	p.L593R	PLCB3_uc009ypg.1_Missense_Mutation_p.L593R|PLCB3_uc009yph.1_Missense_Mutation_p.L526R|PLCB3_uc009ypi.2_Missense_Mutation_p.L593R	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	593	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						ATGTCCACGCTTGTCAACTAC	0.612													G	64028918	T	G	64028918	3	3	37	1	0	0	0	0	1	0	0	0	12029	1609	56	5	1836	5	PLCB3	11	64028918	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	629980	64028918	70977598	645	34710											
PLCB3	5331	broad.mit.edu	37	chr11	64032517	64032517	+	Frame_Shift_Del	DEL	C	C	-													ccccagcccactggatgcctCcccccgccggccccctggcc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:64032517delC	uc001nzb.2	+	23	2747	c.2747delC	c.(2746-2748)TCCfs	p.S916fs	PLCB3_uc009ypg.1_Frame_Shift_Del_p.S916fs|PLCB3_uc009yph.1_Frame_Shift_Del_p.S849fs|PLCB3_uc009ypi.2_Frame_Shift_Del_p.S916fs	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	916					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						CTGGATGCCTCCCCCCGCCGG	0.701													-	64032517	C	-	64032517	7	5	37	1	0	1	0	1	0	0	0	0	12029	855	30	0	2837	0	PLCB3	11	64032517	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	3599	64032517	70973999	646	34711											
KCNK4	50801	broad.mit.edu	37	chr11	64064615	64064615	+	Frame_Shift_Del	DEL	C	C	-													tggcaatgtggccctgcgcaCagatgccgggcgcctcttct							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:64064614_64064614AC>A	uc001nzj.1	+	3	660	c.337_337AC>A	c.(337-339)acafs	p.T113fs	KCNK4_uc009ypl.1_Frame_Shift_Del_p.A85fs|KCNK4_uc001nzk.1_Frame_Shift_Del_p.A46fs|KCNK4_uc010rnk.1_5'UTR|KCNK4_uc001nzl.1_Frame_Shift_Del_p.A46fs|KCNK4_uc001nzm.4_Non-coding_Transcript|KCNK4_uc001nzn.1_Frame_Shift_Del_p.T113fs|KCNK4_uc001nzo.2_Frame_Shift_Del_p.T113fs|C11orf20_uc009ypm.3_5'Flank	NM_033310	NP_201567	Q9NYG8	KCNK4_HUMAN	Homo sapiens potassium channel, subfamily K, member 4 (KCNK4), mRNA.	113						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.R112R(1)		breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						GGCCCTGCGCACAGATGCCGG	0.652													-	64064615	C	-	64064615	7	5	37	1	0	1	0	1	0	0	0	0	8068	478	17	0	348	0	KCNK4	11	64064615	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	32098	64064615	70941901	647	34712											
RPS6KA4	8986	broad.mit.edu	37	chr11	64138941	64138941	+	Frame_Shift_Del	DEL	C	C	-													gccgagccaacggccccctgCccccctcctaatccccacca							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:64138941delC	uc001oae.2	+	17	2391	c.2308delC	c.(2308-2310)CCCfs	p.P770fs	RPS6KA4_uc001oad.2_Frame_Shift_Del_p.P764fs|RPS6KA4_uc010rnl.1_Frame_Shift_Del_p.P707fs|RPS6KA4_uc001oaf.2_Frame_Shift_Del_p.P763fs|RPS6KA4_uc009ypp.2_Frame_Shift_Del_p.P522fs	NM_003942	NP_003933	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	770					axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			lung(3)|ovary(1)|breast(1)	5						CGGCCCCCTGCCCCCCTCCTA	0.746													-	64138941	C	-	64138941	7	5	37	1	0	1	0	1	0	0	0	0	13653	739	26	0	2374	0	RPS6KA4	11	64138941	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	74326	64138941	70867575	648	34713											
LTBP3	4054	broad.mit.edu	37	chr11	65315479	65315479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggcacgcactctccgtgGccacagatgttctggttcag	11	15	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:65315479G>A	uc001oej.2	-	12	2027	c.1758C>T	c.(1756-1758)GGC>GGT	p.G586G	LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Silent_p.G16G|LTBP3_uc010roi.1_Silent_p.G469G|LTBP3_uc001oei.2_Silent_p.G586G|LTBP3_uc010roj.1_Silent_p.G287G|LTBP3_uc010rok.1_Silent_p.G497G	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	586	Cys-rich.|EGF-like 3.					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						ACTCTCCGTGGCCACAGATGT	0.657													A	65315479	G	A	65315479	2	1	37	1	0	0	0	0	0	0	0	1	9075	1190	42	2		2	LTBP3	11	65315479	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1176538	65315479	69691037	649	34714											
MUS81	80198	broad.mit.edu	37	chr11	65629422	65629422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgtacctttcaggttcCtgcccagcccaaagcgggag	10	15	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:65629422C>T	uc001ofv.3	+	4	709	c.356C>T	c.(355-357)CCT>CTT	p.P119L	CFL1_uc001oft.2_5'Flank|MUS81_uc001ofw.3_RNA|MUS81_uc001ofx.3_5'Flank	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	MUS81 endonuclease homolog	119					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding				0				READ - Rectum adenocarcinoma(159;0.166)		TTTCAGGTTCCTGCCCAGCCC	0.458								Homologous_recombination					T	65629422	C	T	65629422	3	4	37	1	0	0	0	0	1	0	0	0	9988	681	24	4	370	4	MUS81	11	65629422	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	313943	65629422	69377094	650	34715											
RBM4	5936	broad.mit.edu	37	chr11	66411100	66411100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagcaatacggagcagtgCgtacgccttacaccatgagc	11	11	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:66411100C>T	uc009yrj.2	+	3	1080	c.592C>T	c.(592-594)CGT>TGT	p.R198C	RBM4_uc009yrk.2_Missense_Mutation_p.R173C|RBM4_uc001oiw.1_Missense_Mutation_p.R198C|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Missense_Mutation_p.R198C|RBM4_uc001oiz.1_Missense_Mutation_p.R198C	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	198	Interaction with TNPO3.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CGGAGCAGTGCGTACGCCTTA	0.552													T	66411100	C	T	66411100	3	4	37	1	0	0	0	0	1	0	0	0	13134	768	27	1	598	1	RBM4	11	66411100	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	781678	66411100	68595416	651	34716											
ADRBK1	156	broad.mit.edu	37	chr11	67048584	67048584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccatgaatgacttcagCgtgcatcgcatcattgggcg	11	11	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:67048584C>T	uc009yrn.1	+	8	842	c.576C>T	c.(574-576)AGC>AGT	p.S192S	ADRBK1_uc009yrm.1_Silent_p.S192S	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	192	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	ATGACTTCAGCGTGCATCGCA	0.657													T	67048584	C	T	67048584	2	4	37	1	0	0	0	0	0	0	0	1	343	767	27	1		1	ADRBK1	11	67048584	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	637484	67048584	67957932	652	34717											
RNF121	55298	broad.mit.edu	37	chr11	71698147	71698149	+	In_Frame_Del	DEL	TTA	TTA	-													ttaccctctttggtcttaacTtattattcaagtgagtaccc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:71698146_71698148CTTA>C	uc001ora.3	+	4	835_837	c.495_497CTTA>C	c.(493-498)aactta>aaCa	p.L167del	RNF121_uc001ord.3_In_Frame_Del_p.L86del|RNF121_uc001orb.3_In_Frame_Del_p.L135del|RNF121_uc009yst.3_In_Frame_Del_p.L135del	NM_018320	NP_060790	Q9H920	RN121_HUMAN	Homo sapiens ring finger protein 121 (RNF121), transcript variant 1, mRNA.	167						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						TTGGTCTTAACTTATTATTCAAG	0.414													-	71698149	TTA	-	71698147	7	5	37	1	0	1	0	1	0	0	0	0	13431	1606	56	0	514	0	RNF121	11	71698147	In_Frame_Del	DEL	TTA	TCGA-BR-6566-01A-11D-1800-08	4649563	71698147	63308369	653	34718											
SLCO2B1	11309	broad.mit.edu	37	chr11	74876908	74876908	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accccgaatgattggctatgGggctatccttgtggccctgg	13	11	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:74876908G>T	uc001owb.2	+	4	749	c.362G>T	c.(361-363)GGG>GTG	p.G121V	SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Intron|SLCO2B1_uc010rrs.1_Missense_Mutation_p.G5V|SLCO2B1_uc001owc.2_Missense_Mutation_p.G5V|SLCO2B1_uc001owd.2_Missense_Mutation_p.G99V	NM_007256	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family,	121	Helical; Name=3; (Potential).				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|breast(1)	2					Ergoloid mesylate(DB01049)	ATTGGCTATGGGGCTATCCTT	0.582													T	74876908	G	T	74876908	3	4	37	1	0	0	0	0	1	0	0	0	14727	1232	43	5	376	5	SLCO2B1	11	74876908	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3178761	74876908	60129608	654	34719											
USP35	57558	broad.mit.edu	37	chr11	77916960	77916960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctggacttcgcagaagagcGagctggcgggtttctatccc	13	12	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:77916960G>A	uc009yva.1	+	7	1516	c.1270G>A	c.(1270-1272)GAG>AAG	p.E424K	USP35_uc001oze.2_Missense_Mutation_p.E180K|USP35_uc001ozc.2_5'UTR|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_Silent_p.A33A|USP35_uc001ozf.2_Missense_Mutation_p.E155K	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	424					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GCAGAAGAGCGAGCTGGCGGG	0.572													A	77916960	G	A	77916960	3	1	37	1	0	0	0	0	1	0	0	0	17063	1059	37	1	1292	1	USP35	11	77916960	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3040052	77916960	57089556	655	34720											
GAB2	9846	broad.mit.edu	37	chr11	77936163	77936163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacactcaccaggaaagaGccaactccatcactcatgga	6	16	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:77936163G>A	uc001ozh.2	-	5	1293	c.1293C>T	c.(1291-1293)GGC>GGT	p.G431G	GAB2_uc001ozg.2_Silent_p.G393G	NM_080491	NP_536739	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2 isoform a	431					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity			ovary(5)|lung(1)	6	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CCAGGAAAGAGCCAACTCCAT	0.522													A	77936163	G	A	77936163	2	1	37	1	0	0	0	0	0	0	0	1	6149	958	34	2		2	GAB2	11	77936163	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	19203	77936163	57070353	656	34721											
CCDC89	220388	broad.mit.edu	37	chr11	85396904	85396904	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagctctaggatctggcaGcgctccagggcctcatctga	12	13	4	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:85396904G>A	uc001pau.1	-	1	417	c.270C>T	c.(268-270)CGC>CGT	p.R90R		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	90	Potential.					cytoplasm|nucleus					0		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GGATCTGGCAGCGCTCCAGGG	0.577													A	85396904	G	A	85396904	2	1	37	1	0	0	0	0	0	0	0	1	2866	958	34	2		2	CCDC89	11	85396904	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	7460741	85396904	49609612	657	34722											
NAALAD2	10003	broad.mit.edu	37	chr11	89883713	89883713	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaaactagaaagagagatgGgcatcaactgtactgggaag	12	6	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:89883713G>T	uc001pdf.3	+	5	656	c.547G>T	c.(547-549)GGC>TGC	p.G183C	NAALAD2_uc009yvx.2_Missense_Mutation_p.G183C|NAALAD2_uc009yvy.2_Missense_Mutation_p.G183C|NAALAD2_uc001pdd.2_Missense_Mutation_p.G183C|NAALAD2_uc001pde.2_Missense_Mutation_p.G183C	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	183	Extracellular (Potential).				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAGAGAGATGGGCATCAACTG	0.328													T	89883713	G	T	89883713	3	4	37	1	0	0	0	0	1	0	0	0	10128	1232	43	5	565	5	NAALAD2	11	89883713	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	4486809	89883713	45122803	658	34723											
FAT3	120114	broad.mit.edu	37	chr11	92087030	92087030	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgaaaaagtggcttgccaGggagttatttcatatgactt	10	5	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:92087030G>T	uc001pdj.3	+	1	1769	c.1752G>T	c.(1750-1752)CAG>CAT	p.Q584H		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	584	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGCTTGCCAGGGAGTTATTT	0.428										TCGA Ovarian(4;0.039)			T	92087030	G	T	92087030	3	4	37	1	0	0	0	0	1	0	0	0	5691	991	35	5	1754	5	FAT3	11	92087030	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2203317	92087030	42919486	659	34724											
FOLR4	390243	broad.mit.edu	37	chr11	94038823	94038823	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggcatgctggtggccgctCctgctagagctgtggacagt	15	10	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:94038823C>T	uc010rud.1	+	1	21	c.21C>T	c.(19-21)CTC>CTT	p.L7L		NM_001080486	NP_001073955	A6ND01	FOLR4_HUMAN	folate receptor 4 (delta) homolog	7						extracellular region	folic acid binding|receptor activity			ovary(1)	1						GGTGGCCGCTCCTGCTAGAGC	0.582													T	94038823	C	T	94038823	2	4	37	1	0	0	0	0	0	0	0	1	5984	842	30	4		4	FOLR4	11	94038823	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1951793	94038823	40967693	660	34725											
CEP57	9702	broad.mit.edu	37	chr11	95555113	95555113	+	Frame_Shift_Del	DEL	A	A	-													ttcccaatgcaagaagaattAaaaaaaagaagtcaaaacca							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:95555112_95555112TA>T	uc001pfp.2	+	6	1015	c.777_777TA>T	c.(775-777)attfs	p.I259fs	CEP57_uc001pfo.2_Frame_Shift_Del_p.I259fs|CEP57_uc009ywn.2_Frame_Shift_Del_p.I107fs|CEP57_uc010ruh.2_Frame_Shift_Del_p.I250fs|CEP57_uc001pfq.2_Frame_Shift_Del_p.I259fs|CEP57_uc001pfr.2_Frame_Shift_Del_p.I107fs	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN	Homo sapiens centrosomal protein 57kDa (CEP57), transcript variant 1, mRNA.	259					G2/M transition of mitotic cell cycle|fibroblast growth factor receptor signaling pathway|protein import into nucleus, translocation|spermatid development	Golgi apparatus|centrosome|cytosol|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAAGAAGAATTAAAAAAAAGA	0.368									Mosaic Variegated Aneuploidy Syndrome				-	95555113	A	-	95555113	7	5	37	1	0	1	0	1	0	0	0	0	3256	363	13	0	804	0	CEP57	11	95555113	Frame_Shift_Del	DEL	A	TCGA-BR-6566-01A-11D-1800-08	1516290	95555113	39451403	661	34726											
CNTN5	53942	broad.mit.edu	37	chr11	100211267	100211267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagagggaatgagtctttcGtcatcctaacaggattagaa	10	7	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:100211267G>A	uc001pga.2	+	22	3142	c.2803G>A	c.(2803-2805)GTC>ATC	p.V935I	CNTN5_uc001pgb.2_Missense_Mutation_p.V861I|CNTN5_uc010ruk.1_Missense_Mutation_p.V206I	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	935	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGAGTCTTTCGTCATCCTAAC	0.428													A	100211267	G	A	100211267	3	1	37	1	0	0	0	0	1	0	0	0	3644	1145	40	1	2881	1	CNTN5	11	100211267	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	4656154	100211267	34795249	662	34727											
ATM	472	broad.mit.edu	37	chr11	108216545	108216545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaattttcaaccagttttcCgttacttctgcatggaaaaa	5	8	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:108216545C>T	uc001pkb.1	+	58	8879	c.8494C>T	c.(8494-8496)CGT>TGT	p.R2832C	ATM_uc009yxr.1_Missense_Mutation_p.R2832C|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.R1484C	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2832	PI3K/PI4K.		R -> C (in AT and B-cell non-Hodgkin lymphoma).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.R2832C(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACCAGTTTTCCGTTACTTCTG	0.343			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			T	108216545	C	T	108216545	3	4	37	1	0	0	0	0	1	0	0	0	1109	652	23	1	8720	1	ATM	11	108216545	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	8005278	108216545	26789971	663	34728											
EXPH5	23086	broad.mit.edu	37	chr11	108381075	108381075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactaaattctgagctgctGtgacgtctttagaattctca	7	8	3	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:108381075G>A	uc001pkk.2	-	6	5270	c.5159C>T	c.(5158-5160)ACA>ATA	p.T1720I	EXPH5_uc010rvy.1_Missense_Mutation_p.T1532I|EXPH5_uc010rvz.1_Missense_Mutation_p.T1564I|EXPH5_uc010rwa.1_Missense_Mutation_p.T1644I	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	1720					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTGAGCTGCTGTGACGTCTTT	0.448													A	108381075	G	A	108381075	3	1	37	1	0	0	0	0	1	0	0	0	5322	1377	48	4	814	4	EXPH5	11	108381075	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	164530	108381075	26625441	664	34729											
USP28	57646	broad.mit.edu	37	chr11	113704196	113704196	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatagatccagggctgcagaCgggtctacaaattttctatt	9	8	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:113704196C>T	uc001poh.2	-	7	738	c.705G>A	c.(703-705)CCG>CCA	p.P235P	USP28_uc010rwy.1_Silent_p.P110P|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Silent_p.P235P|USP28_uc010rwz.1_Silent_p.P235P	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	235					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GGGCTGCAGACGGGTCTACAA	0.398													T	113704196	C	T	113704196	2	4	37	1	0	0	0	0	0	0	0	1	17055	523	19	1		1	USP28	11	113704196	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	5323121	113704196	21302320	665	34730											
RBM7	10179	broad.mit.edu	37	chr11	114278312	114278312	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggcgccaaggtacaccatCatcacagcgtaaagtcagaa	10	11	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:114278312C>T	uc001pov.2	+	5	594	c.584C>T	c.(583-585)TCA>TTA	p.S195L	RBM7_uc001pow.2_Missense_Mutation_p.S196L|RBM7_uc001pox.2_Missense_Mutation_p.S75L	NM_016090	NP_057174	Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	195					meiosis		nucleotide binding|protein binding|RNA binding			ovary(2)	2		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GGTACACCATCATCACAGCGT	0.443													T	114278312	C	T	114278312	3	4	37	1	0	0	0	0	1	0	0	0	13145	838	29	4	602	4	RBM7	11	114278312	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	574116	114278312	20728204	666	34731											
RNF214	257160	broad.mit.edu	37	chr11	117152774	117152774	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccagcccagccagccttcCtcaccccttcctggctccca	5	23	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:117152774C>A	uc001pqt.2	+	11	1545	c.1500C>A	c.(1498-1500)TCC>TCA	p.S500S	RNF214_uc001pqu.2_Silent_p.S500S|RNF214_uc010rxf.1_Silent_p.S345S	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	ring finger protein 214	500	Pro-rich.						zinc ion binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GCCAGCCTTCCTCACCCCTTC	0.622													A	117152774	C	A	117152774	2	1	37	1	0	0	0	0	0	0	0	1	13478	668	24	5		5	RNF214	11	117152774	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2874462	117152774	17853742	667	34732											
MLL	4297	broad.mit.edu	37	chr11	118344459	118344459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgaggagctgtccaaagatcGagatgctgacaagagcgtgg	15	8	0	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:118344459G>A	uc001pta.2	+	3	2608	c.2585G>A	c.(2584-2586)CGA>CAA	p.R862Q	MLL_uc001ptb.2_Missense_Mutation_p.R862Q|MLL_uc001psz.1_Missense_Mutation_p.R895Q|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	862					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TCCAAAGATCGAGATGCTGAC	0.303			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								A	118344459	G	A	118344459	3	1	37	1	0	0	0	0	1	0	0	0	9620	1058	37	1	2595	1	MLL	11	118344459	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1191685	118344459	16662057	668	34733											
H2AFX	3014	broad.mit.edu	37	chr11	118965850	118965850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcgttgcggatggccagCtgcaggtggcgggggatgat	19	8	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:118965850C>T	uc001pvg.2	-	1	328	c.255G>A	c.(253-255)CAG>CAA	p.Q85Q	H2AFX_uc001pvh.1_RNA	NM_002105	NP_002096	P16104	H2AX_HUMAN	H2A histone family, member X	85					DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding				0	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		GGATGGCCAGCTGCAGGTGGC	0.667								Chromatin_Structure|Direct_reversal_of_damage			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	118965850	C	T	118965850	2	4	37	1	0	0	0	0	0	0	0	1	6928	796	28	2		2	H2AFX	11	118965850	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	621391	118965850	16040666	669	34734											
NLRX1	79671	broad.mit.edu	37	chr11	119045262	119045262	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtttctctgataccaaccTgcagaagctctacttccagc	7	14	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:119045262T>C	uc001pvu.2	+	6	1165	c.950T>C	c.(949-951)CTG>CCG	p.L317P	NLRX1_uc010rzc.1_Missense_Mutation_p.L139P|NLRX1_uc001pvv.2_Missense_Mutation_p.L317P|NLRX1_uc001pvw.2_Missense_Mutation_p.L317P|NLRX1_uc001pvx.2_Missense_Mutation_p.L317P	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	317	Required for interaction with MAVS.|NACHT.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GATACCAACCTGCAGAAGCTC	0.602													C	119045262	T	C	119045262	3	2	37	1	0	0	0	0	1	0	0	0	10485	1580	55	3	968	3	NLRX1	11	119045262	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	79412	119045262	15961254	670	34735											
TECTA	7007	broad.mit.edu	37	chr11	120996278	120996278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatctgggagagagctggCgtgtgtaccacgcagactgg	17	8	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:120996278C>T	uc010rzo.1	+	7	1471	c.1471C>T	c.(1471-1473)CGT>TGT	p.R491C		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	491	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGAGAGCTGGCGTGTGTACCA	0.582													T	120996278	C	T	120996278	3	4	37	1	0	0	0	0	1	0	0	0	15744	768	27	1	1497	1	TECTA	11	120996278	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1951016	120996278	14010238	671	34736											
VWA5A	4013	broad.mit.edu	37	chr11	123994983	123994983	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaagttacagacacgtttAgtgtaattaaagaagttagg	11	3	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:123994983A>G	uc001pzu.2	+	11	1413	c.1204A>G	c.(1204-1206)AGT>GGT	p.S402G	VWA5A_uc001pzr.2_Missense_Mutation_p.S402G|VWA5A_uc001pzs.2_Missense_Mutation_p.S402G|VWA5A_uc010sae.1_Missense_Mutation_p.S418G|VWA5A_uc001pzt.2_Missense_Mutation_p.S402G	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	402	VWFA.									upper_aerodigestive_tract(1)|ovary(1)	2						AGACACGTTTAGTGTAATTAA	0.363													G	123994983	A	G	123994983	3	3	37	1	0	0	0	0	1	0	0	0	17239	420	15	3	1238	3	VWA5A	11	123994983	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	2998705	123994983	11011533	672	34737											
OR8D1	283159	broad.mit.edu	37	chr11	124179741	124179741	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccccaaatcaggactcattTtcctactaagaccttcctta	3	15	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:124179741T>G	uc010sag.1	-	1	922	c.922A>C	c.(922-924)AAA>CAA	p.K308Q		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGGACTCATTTTCCTACTAAG	0.363													G	124179741	T	G	124179741	3	3	37	1	0	0	0	0	1	0	0	0	11231	1850	64	5	7	5	OR8D1	11	124179741	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	184758	124179741	10826775	673	34738											
HEPACAM	220296	broad.mit.edu	37	chr11	124794951	124794951	+	Frame_Shift_Del	DEL	C	C	-													cacggggctggtgatgttcaCcccctccagggggtctgtga							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:124794950_124794950AC>A	uc001qbk.3	-	1	507	c.101_101GT>T	c.(100-102)gtgfs	p.V34fs	HEPACAM_uc009zbj.3_5'Flank|HEPACAM_uc001qbl.1_Frame_Shift_Del_p.V34fs	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA.	34	Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		p.G33R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GGTGATGTTCACCCCCTCCAG	0.607													-	124794951	C	-	124794951	7	5	37	1	0	1	0	1	0	0	0	0	7052	507	18	0	1174	0	HEPACAM	11	124794951	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	615210	124794951	10211565	674	34739											
ERC1	23085	broad.mit.edu	37	chr12	1372286	1372286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataactgcagagcgggaaatGgtgctagcacaagaggaatc	13	7	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:1372286G>A	uc001qjb.2	+	14	2815	c.2574G>A	c.(2572-2574)ATG>ATA	p.M858I	ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.M830I|ERC1_uc001qja.2_Intron|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.M858I|ERC1_uc010sdv.1_Intron|ERC1_uc001qje.2_RNA	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	858	Potential.				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(2)|breast(1)	5	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGCGGGAAATGGTGCTAGCAC	0.443													A	1372286	G	A	1372286	3	1	37	1	0	0	0	0	1	0	0	0	5210	1348	47	4	2624	4	ERC1	12	1372286	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08		1372286	132479609	675	34740											
AKAP3	10566	broad.mit.edu	37	chr12	4736154	4736154	+	Frame_Shift_Del	DEL	G	G	-													tcatcatcctcatatagcctGgggggagaagacgccaacgg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:4736153_4736153TG>T	uc001qnb.4	-	3	2159	c.1915_1915CA>A	c.(1915-1917)aggfs	p.R639fs		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	639					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCATATAGCCTGGGGGGAGAA	0.537													-	4736154	G	-	4736154	7	5	37	1	0	1	0	1	0	0	0	0	452	1335	47	0	655	0	AKAP3	12	4736154	Frame_Shift_Del	DEL	G	TCGA-BR-6566-01A-11D-1800-08	3363868	4736154	129115741	676	34741											
LAG3	3902	broad.mit.edu	37	chr12	6882045	6882045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctcagttcctgggcttGctgtttctgcagccgctttg	13	11	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:6882045G>A	uc001qqt.3	+	1	376	c.27G>A	c.(25-27)TTG>TTA	p.L9L	LAG3_uc001qqs.2_Silent_p.L9L|LAG3_uc001qqu.2_5'UTR	NM_002286	NP_002277	P18627	LAG3_HUMAN	lymphocyte-activation protein 3 precursor	9						integral to membrane	antigen binding|MHC class II protein binding				0						TCCTGGGCTTGCTGTTTCTGC	0.622													A	6882045	G	A	6882045	2	1	37	1	0	0	0	0	0	0	0	1	8600	1310	46	2		2	LAG3	12	6882045	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2145891	6882045	126969850	677	34742											
GPR162	27239	broad.mit.edu	37	chr12	6933449	6933449	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcaactaccgcctcagcAacgccaagaagcaggcactg	9	16	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:6933449A>G	uc001qqw.1	+	2	920	c.385A>G	c.(385-387)AAC>GAC	p.N129D	GPR162_uc010sfn.1_Missense_Mutation_p.N129D|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	129	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CCGCCTCAGCAACGCCAAGAA	0.622													G	6933449	A	G	6933449	3	3	37	1	0	0	0	0	1	0	0	0	6666	130	5	3	406	3	GPR162	12	6933449	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	51404	6933449	126918446	678	34743											
USP5	8078	broad.mit.edu	37	chr12	6973278	6973278	+	Frame_Shift_Del	DEL	C	C	-													tccacaagcgcagcagccgaCccccctcctgaggactgtgt							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:6973277_6973277AC>A	uc001qri.4	+	16	2221	c.2162_2162AC>A	c.(2161-2163)gacfs	p.D721fs	USP5_uc001qrh.4_Frame_Shift_Del_p.D698fs	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.	721					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GCAGCAGCCGACCCCCCTCCT	0.627													-	6973278	C	-	6973278	7	5	37	1	0	1	0	1	0	0	0	0	17078	506	18	0	2229	0	USP5	12	6973278	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	39829	6973278	126878617	679	34744											
CD163L1	283316	broad.mit.edu	37	chr12	7526223	7526223	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcagtttcactgtagagcctCaaggctgtgaattctacaga	9	9	4	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:7526223C>T	uc001qsy.2	-	14	3449	c.3423G>A	c.(3421-3423)TTG>TTA	p.L1141L	CD163L1_uc010sge.1_Silent_p.L1151L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	1141	SRCR 11.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						TGTAGAGCCTCAAGGCTGTGA	0.448													T	7526223	C	T	7526223	2	4	37	1	0	0	0	0	0	0	0	1	2968	825	29	4		4	CD163L1	12	7526223	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	552945	7526223	126325672	680	34745											
LRP6	4040	broad.mit.edu	37	chr12	12278295	12278295	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcctgtaacatgggctcGgtcataggggggtccactgc	14	11	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:12278295G>A	uc001rah.3	-	21	4526	c.4384C>T	c.(4384-4386)CGA>TGA	p.R1462*	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Nonsense_Mutation_p.R1417*	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	1462	Cytoplasmic (Potential).				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12		Prostate(47;0.0865)				ACATGGGCTCGGTCATAGGGG	0.448													A	12278295	G	A	12278295	4	1	37	1	0	0	0	0	0	1	0	0	8962	1124	39	1	469	1	LRP6	12	12278295	Nonsense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	4752072	12278295	121573600	681	34746											
GRIN2B	2904	broad.mit.edu	37	chr12	13716547	13716547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaagttgcccccggaccGgtcctcccactccacgttgg	11	17	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:13716547G>A	uc001rbt.2	-	13	3804	c.3625C>T	c.(3625-3627)CGG>TGG	p.R1209W		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1209	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R1209R(1)		central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCCCGGACCGGTCCTCCCAC	0.642													A	13716547	G	A	13716547	3	1	37	1	0	0	0	0	1	0	0	0	6780	1115	39	1	833	1	GRIN2B	12	13716547	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1438252	13716547	120135348	682	34747											
H2AFJ	55766	broad.mit.edu	37	chr12	14927697	14927697	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaggagttaaacaagctgcTgggcaaagtgaccatcgctc	12	10	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:14927697T>C	uc009zia.2	+	1	428	c.293T>C	c.(292-294)CTG>CCG	p.L98P	H2AFJ_uc001rch.3_RNA	NM_177925	NP_808760	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	98					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)	1						AACAAGCTGCTGGGCAAAGTG	0.602													C	14927697	T	C	14927697	3	2	37	1	0	0	0	0	1	0	0	0	6926	1580	55	3	295	3	H2AFJ	12	14927697	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	1211150	14927697	118924198	683	34748											
PLCZ1	89869	broad.mit.edu	37	chr12	18865917	18865917	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacggcatcctttcacaagGgcactagcaaaatttcagca	7	12	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:18865917G>A	uc010sid.1	-	6	764	c.573C>T	c.(571-573)GCC>GCT	p.A191A	PLCZ1_uc001rdv.3_Silent_p.A87A|PLCZ1_uc001rdw.3_Intron|PLCZ1_uc001rdu.1_5'UTR|PLCZ1_uc009zil.1_RNA	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	191	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CTTTCACAAGGGCACTAGCAA	0.348													A	18865917	G	A	18865917	2	1	37	1	0	0	0	0	0	0	0	1	12044	1219	43	4		4	PLCZ1	12	18865917	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3938220	18865917	114985978	684	34749											
LST-3TM12	338821	broad.mit.edu	37	chr12	21207464	21207464	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgcacttgggtgaatgcccaAgagatgatgcttgtacaagg	13	8	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:21207464A>T	uc010sin.1	+	10	1435	c.1435A>T	c.(1435-1437)AGA>TGA	p.R479*	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Nonsense_Mutation_p.R526*	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	479						membrane	transporter activity				0						TGAATGCCCAAGAGATGATGC	0.368													T	21207464	A	T	21207464	4	4	37	1	0	0	0	0	0	1	0	0	9066	64	3	5	1473	5	LST-3TM12	12	21207464	Nonsense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	2341547	21207464	112644431	685	34750											
SOX5	6660	broad.mit.edu	37	chr12	23728680	23728680	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccccactgtttattctcagAgctggcatatggggagaggt	13	9	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:23728680A>C	uc001rfw.2	-	10	1359	c.1257T>G	c.(1255-1257)GCT>GCG	p.A419A	SOX5_uc001rfx.2_Silent_p.A406A|SOX5_uc001rfy.2_Intron|SOX5_uc001rfv.2_Silent_p.A33A|SOX5_uc010siv.1_Silent_p.A406A|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Silent_p.A371A	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	419					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						TTATTCTCAGAGCTGGCATAT	0.517													C	23728680	A	C	23728680	2	2	37	1	0	0	0	0	0	0	0	1	14954	291	11	5		5	SOX5	12	23728680	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	2521216	23728680	110123215	686	34751											
YARS2	51067	broad.mit.edu	37	chr12	32908133	32908133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtaatagaagtcataggCctggagcacctggtaaaaga	13	6	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:32908133C>T	uc001rli.2	-	1	742	c.676G>A	c.(676-678)GCC>ACC	p.A226T		NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	226					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity				0	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	AAGTCATAGGCCTGGAGCACC	0.567											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	32908133	C	T	32908133	3	4	37	1	0	0	0	0	1	0	0	0	17465	739	26	2	777	2	YARS2	12	32908133	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	9179453	32908133	100943762	687	34752											
SYT10	341359	broad.mit.edu	37	chr12	33532785	33532785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctccagcaatgggtgccaGtgcgttattggttttcgatg	12	9	0	0	rs150924840		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:33532785G>A	uc001rll.1	-	6	1779	c.1482C>T	c.(1480-1482)CAC>CAT	p.H494H	SYT10_uc009zju.1_Silent_p.H304H	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	494	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATGGGTGCCAGTGCGTTATTG	0.438													A	33532785	G	A	33532785	2	1	37	1	0	0	0	0	0	0	0	1	15463	1020	36	4		4	SYT10	12	33532785	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	624652	33532785	100319110	688	34753											
LRRK2	120892	broad.mit.edu	37	chr12	40677742	40677742	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatagtggatctcgtgaacaAgatgtacgaaaagcgttgac	11	6	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:40677742A>G	uc001rmg.3	+	19	2428	c.2307A>G	c.(2305-2307)CAA>CAG	p.Q769Q	LRRK2_uc001rmh.1_Silent_p.Q391Q	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	769					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTCGTGAACAAGATGTACGAA	0.408													G	40677742	A	G	40677742	2	3	37	1	0	0	0	0	0	0	0	1	9033	69	3	3		3	LRRK2	12	40677742	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	7144957	40677742	93174153	689	34754											
LRRK2	120892	broad.mit.edu	37	chr12	40734203	40734203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaagattgctgactacgGcattgctcagtactgctgta	10	9	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:40734203G>A	uc001rmg.3	+	41	6177	c.6056G>A	c.(6055-6057)GGC>GAC	p.G2019D	LRRK2_uc009zjw.2_Missense_Mutation_p.G857D|LRRK2_uc001rmi.2_Missense_Mutation_p.G852D	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2019	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GCTGACTACGGCATTGCTCAG	0.453													A	40734203	G	A	40734203	3	1	37	1	0	0	0	0	1	0	0	0	9033	1203	42	2	6218	2	LRRK2	12	40734203	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	56461	40734203	93117692	690	34755											
HDAC7	51564	broad.mit.edu	37	chr12	48191938	48191938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggactgttctttctagggcCgcctgctgttttttcagaat	10	9	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:48191938C>T	uc009zkv.1	-	3	512	c.297G>A	c.(295-297)GCG>GCA	p.A99A	HDAC7_uc010slo.1_Silent_p.A138A|HDAC7_uc001rqj.3_Silent_p.A138A|HDAC7_uc001rqk.3_Silent_p.A121A			Q8WUI4	HDAC7_HUMAN	Synthetic construct DNA, clone: pF1KB0470, Homo sapiens HDAC7 gene for histone deacetylase 7, without stop codon, in Flexi system.	99	Interaction with MEF2A (By similarity).|Transcription repression 1 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		TTTCTAGGGCCGCCTGCTGTT	0.617													T	48191938	C	T	48191938	2	4	37	1	0	0	0	0	0	0	0	1	7012	639	23	1		1	HDAC7	12	48191938	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	7457735	48191938	85659957	691	34756											
MLL2	8085	broad.mit.edu	37	chr12	49444339	49444339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcaggatgggagaagccGgccccactggggagcctgga	16	12	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:49444339G>A	uc001rta.3	-	11	3032	c.3032C>T	c.(3031-3033)CCG>CTG	p.P1011L		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1011	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGGAGAAGCCGGCCCCACTGG	0.612			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49444339	G	A	49444339	3	1	37	1	0	0	0	0	1	0	0	0	9621	1116	39	1	13757	1	MLL2	12	49444339	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1252401	49444339	84407556	692	34757											
KCNH3	23416	broad.mit.edu	37	chr12	49943878	49943878	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagctgctgcagagcctcCctgacgagctgcgcgcagac	13	15	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:49943878C>A	uc001ruh.1	+	10	1944	c.1684C>A	c.(1684-1686)CCT>ACT	p.P562T	KCNH3_uc010smj.1_Missense_Mutation_p.P502T	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	562	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						GCAGAGCCTCCCTGACGAGCT	0.692													A	49943878	C	A	49943878	3	1	37	1	0	0	0	0	1	0	0	0	8033	623	22	5	1722	5	KCNH3	12	49943878	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	499539	49943878	83908017	693	34758											
RACGAP1	29127	broad.mit.edu	37	chr12	50399110	50399110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagctgatttttgctcctcGcttagttgaatgctgccaga	10	9	0	4	rs149574224		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:50399110G>A	uc001rvt.2	-	6	664	c.354C>T	c.(352-354)AGC>AGT	p.S118S	RACGAP1_uc009zlm.1_Silent_p.S118S|RACGAP1_uc001rvs.2_Silent_p.S118S|RACGAP1_uc001rvu.2_Silent_p.S118S	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	118	Interaction with SLC26A8.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			kidney(1)	1						TTTGCTCCTCGCTTAGTTGAA	0.453													A	50399110	G	A	50399110	2	1	37	1	0	0	0	0	0	0	0	1	12977	1078	38	1		1	RACGAP1	12	50399110	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	455232	50399110	83452785	694	34759											
ACVR1B	91	broad.mit.edu	37	chr12	52374774	52374774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttacccctctttgtccagcGcacagtggcccgaaccatcg	9	16	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:52374774G>A	uc001rzn.2	+	4	644	c.602G>A	c.(601-603)CGC>CAC	p.R201H	ACVR1B_uc001rzl.2_Missense_Mutation_p.R201H|ACVR1B_uc001rzm.2_Missense_Mutation_p.R201H|ACVR1B_uc010snn.1_Missense_Mutation_p.R201H	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	201	Cytoplasmic (Potential).|GS.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TTTGTCCAGCGCACAGTGGCC	0.498											OREG0021829	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	52374774	G	A	52374774	3	1	37	1	0	0	0	0	1	0	0	0	221	1087	38	1	616	1	ACVR1B	12	52374774	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1975664	52374774	81477121	695	34760											
KRT75	9119	broad.mit.edu	37	chr12	52826980	52826980	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtcctggagccctgctcCtgcaggagggcccacttggt	13	14	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:52826980C>T	uc001saj.2	-	2	577	c.555G>A	c.(553-555)CAG>CAA	p.Q185Q		NM_004693	NP_004684	O95678	K2C75_HUMAN	keratin 75	185	Linker 1.|Rod.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.192)		AGCCCTGCTCCTGCAGGAGGG	0.567													T	52826980	C	T	52826980	2	4	37	1	0	0	0	0	0	0	0	1	8488	680	24	4		4	KRT75	12	52826980	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	452206	52826980	81024915	696	34761											
TARBP2	6895	broad.mit.edu	37	chr12	53898184	53898184	+	Frame_Shift_Del	DEL	C	C	-													tgtgccttttccttcaggagCccccccatggaactgcagcc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:53898183_53898183GC>G	uc001sdo.3	+	4	913	c.425_425GC>G	c.(424-426)agcfs	p.S142fs	TARBP2_uc001sdp.3_Frame_Shift_Del_p.S121fs|TARBP2_uc001sdr.3_5'UTR|TARBP2_uc001sdt.3_Frame_Shift_Del_p.S121fs	NM_134323	NP_599151	Q15633	TRBP2_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 2 (TARBP2), transcript variant 1, mRNA.	142					miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol|nucleus|perinuclear region of cytoplasm	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						TCCTTCAGGAGCCCCCCCATG	0.562													-	53898184	C	-	53898184	7	5	37	1	0	1	0	1	0	0	0	0	15553	738	26	0	444	0	TARBP2	12	53898184	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	1071204	53898184	79953711	697	34762											
GPR84	53831	broad.mit.edu	37	chr12	54756512	54756512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catatgcttggcggaattggCggttcatggctgcatagagc	14	8	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:54756512C>T	uc001sfu.2	-	2	1214	c.1124G>A	c.(1123-1125)CGC>CAC	p.R375H		NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	375	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)	2						GCGGAATTGGCGGTTCATGGC	0.542													T	54756512	C	T	54756512	3	4	37	1	0	0	0	0	1	0	0	0	6714	768	27	1	70	1	GPR84	12	54756512	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	858328	54756512	79095383	698	34763											
NCKAP1L	3071	broad.mit.edu	37	chr12	54936413	54936413	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctggagtcctgtttccctTatgtcctgcttcgaaatgcc	9	12	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:54936413T>C	uc001sgc.3	+	31	3407	c.3328T>C	c.(3328-3330)TAT>CAT	p.Y1110H	NCKAP1L_uc010sox.1_Missense_Mutation_p.Y652H|NCKAP1L_uc010soy.1_Missense_Mutation_p.Y1060H	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1110					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						CTGTTTCCCTTATGTCCTGCT	0.532													C	54936413	T	C	54936413	3	2	37	1	0	0	0	0	1	0	0	0	10222	1754	61	3	3450	3	NCKAP1L	12	54936413	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	179901	54936413	78915482	699	34764											
OR6C3	254786	broad.mit.edu	37	chr12	55725984	55725984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccagctggattactgtgCttccaacgtcattgatcact	7	13	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:55725984C>T	uc010spj.1	+	1	500	c.500C>T	c.(499-501)GCT>GTT	p.A167V		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GATTACTGTGCTTCCAACGTC	0.438													T	55725984	C	T	55725984	3	4	37	1	0	0	0	0	1	0	0	0	11192	797	28	2	502	2	OR6C3	12	55725984	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	789571	55725984	78125911	700	34765											
OR6C76	390326	broad.mit.edu	37	chr12	55820443	55820443	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atacaaccatcatgagtgacAggatctgttatcagcttata	7	8	3	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:55820443A>C	uc010spm.1	+	1	406	c.406A>C	c.(406-408)AGG>CGG	p.R136R		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C,	136	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CATGAGTGACAGGATCTGTTA	0.453													C	55820443	A	C	55820443	2	2	37	1	0	0	0	0	0	0	0	1	11200	179	7	5		5	OR6C76	12	55820443	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	94459	55820443	78031452	701	34766											
MYL6B	140465	broad.mit.edu	37	chr12	56549214	56549214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctccagagctgaagtcgCggcgtgtggactttgagact	13	10	0	3	rs149424698		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:56549214C>T	uc001sjs.2	+	5	485	c.358C>T	c.(358-360)CGG>TGG	p.R120W	MYL6B_uc009zoo.2_Missense_Mutation_p.R120W|MYL6B_uc001sjt.2_Missense_Mutation_p.R120W|MYL6B_uc001sju.1_Missense_Mutation_p.R120W|MYL6_uc001sjv.2_5'Flank|MYL6_uc001sjw.1_5'Flank|MYL6_uc001sjx.1_5'Flank|MYL6_uc010sqd.1_5'Flank|MYL6_uc001sjz.2_5'Flank	NM_002475	NP_002466	P14649	MYL6B_HUMAN	smooth muscle and non-muscle myosin alkali light	120					muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle				0			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GCTGAAGTCGCGGCGTGTGGA	0.522													T	56549214	C	T	56549214	3	4	37	1	0	0	0	0	1	0	0	0	10052	759	27	1	372	1	MYL6B	12	56549214	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	728771	56549214	77302681	702	34767											
COQ10A	93058	broad.mit.edu	37	chr12	56662937	56662937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctctggtggtatccagcCgtaagggtcatttgaaagcc	12	9	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:56662937C>T	uc001sko.3	+	3	637	c.376C>T	c.(376-378)CGT>TGT	p.R126C	COQ10A_uc001skp.3_Missense_Mutation_p.R94C|COQ10A_uc001skq.3_Missense_Mutation_p.R109C	NM_144576	NP_653177	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A isoform a	126						mitochondrial inner membrane				ovary(1)	1						GGTATCCAGCCGTAAGGGTCA	0.507													T	56662937	C	T	56662937	3	4	37	1	0	0	0	0	1	0	0	0	3743	652	23	1	428	1	COQ10A	12	56662937	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	113723	56662937	77188958	703	34768											
AVIL	10677	broad.mit.edu	37	chr12	58204205	58204205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaggcttgataatggagcGtcggccaagggtgtcctgaa	15	7	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:58204205G>A	uc001sqj.1	-	6	717	c.688C>T	c.(688-690)CGC>TGC	p.R230C	AVIL_uc009zqe.1_Missense_Mutation_p.R223C|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.3_Missense_Mutation_p.R207C	NM_006576	NP_006567	O75366	AVIL_HUMAN	advillin	230	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			central_nervous_system(1)	1	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					ATAATGGAGCGTCGGCCAAGG	0.517													A	58204205	G	A	58204205	3	1	37	1	0	0	0	0	1	0	0	0	1227	1145	40	1	1827	1	AVIL	12	58204205	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1541268	58204205	75647690	704	34769											
SRGAP1	57522	broad.mit.edu	37	chr12	64488720	64488720	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccctttacccaggactcaggAcaggttattcccctcattgt	7	14	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:64488720A>T	uc010ssp.1	+	13	1604	c.1548A>T	c.(1546-1548)GGA>GGT	p.G516G	SRGAP1_uc001srv.2_Silent_p.G453G	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	516	Rho-GAP.				axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AGGACTCAGGACAGGTTATTC	0.368													T	64488720	A	T	64488720	2	4	37	1	0	0	0	0	0	0	0	1	15144	262	10	5		5	SRGAP1	12	64488720	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	6284515	64488720	69363175	705	34770											
GLIPR1L2	144321	broad.mit.edu	37	chr12	75784952	75784952	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcccagtccctacccctggCagtagggggcgttttgaagc	14	13	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:75784952C>A	uc001sxr.1	+	1	64	c.56C>A	c.(55-57)GCA>GAA	p.A19E	CAPS2_uc001sxm.3_5'Flank|CAPS2_uc009zsa.2_5'Flank|GLIPR1L2_uc001sxp.1_Missense_Mutation_p.A19E|GLIPR1L2_uc001sxq.1_5'UTR	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	19						integral to membrane				ovary(1)	1						CTACCCCTGGCAGTAGGGGGC	0.647											OREG0021999	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	75784952	C	A	75784952	3	1	37	1	0	0	0	0	1	0	0	0	6443	710	25	5	58	5	GLIPR1L2	12	75784952	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	11296232	75784952	58066943	706	34771											
LIN7A	8825	broad.mit.edu	37	chr12	81331469	81331469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaatgtcgccatgtctgcCgtgggagccgaagtgacgct	14	11	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:81331469C>T	uc001szj.1	-	1	226	c.33G>A	c.(31-33)ACG>ACA	p.T11T	LIN7A_uc001szk.1_RNA|MIR618_hsa-mir-618|MI0003632_5'Flank	NM_004664	NP_004655	O14910	LIN7A_HUMAN	lin-7 homolog A	11					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			ovary(1)|skin(1)	2						CCATGTCTGCCGTGGGAGCCG	0.498													T	81331469	C	T	81331469	2	4	37	1	0	0	0	0	0	0	0	1	8810	639	23	1		1	LIN7A	12	81331469	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	5546517	81331469	52520426	707	34772											
LRRIQ1	84125	broad.mit.edu	37	chr12	85626524	85626524	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtacttaatggtggaagagTtcagcttgtggtaagaaatg	13	3	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:85626524T>C	uc001tac.2	+	26	5117	c.5006T>C	c.(5005-5007)GTT>GCT	p.V1669A		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1669										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		GGTGGAAGAGTTCAGCTTGTG	0.313													C	85626524	T	C	85626524	3	2	37	1	0	0	0	0	1	0	0	0	9029	1725	60	3	5108	3	LRRIQ1	12	85626524	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	4295055	85626524	48225371	708	34773											
DUSP6	1848	broad.mit.edu	37	chr12	89743155	89743155	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgtcctctcgaagtccAgcagctgacccatgaagttg	10	14	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:89743155A>C	uc001tay.2	-	3	1502	c.1022T>G	c.(1021-1023)CTG>CGG	p.L341R	DUSP6_uc001taz.2_Missense_Mutation_p.L195R	NM_001946	NP_001937	Q16828	DUS6_HUMAN	dual specificity phosphatase 6 isoform a	341	Tyrosine-protein phosphatase.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0						CTCGAAGTCCAGCAGCTGACC	0.478													C	89743155	A	C	89743155	3	2	37	1	0	0	0	0	1	0	0	0	4829	188	7	5	127	5	DUSP6	12	89743155	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	4116631	89743155	44108740	709	34774											
ATP2B1	490	broad.mit.edu	37	chr12	90010761	90010761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttttacaatatcatcacGgtcccttggtctgaatactt	6	9	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:90010761G>A	uc001tbh.2	-	11	2066	c.1885C>T	c.(1885-1887)CGT>TGT	p.R629C	ATP2B1_uc001tbg.2_Missense_Mutation_p.R629C|ATP2B1_uc001tbf.2_Missense_Mutation_p.R299C	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	629	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						ATATCATCACGGTCCCTTGGT	0.373													A	90010761	G	A	90010761	3	1	37	1	0	0	0	0	1	0	0	0	1139	1116	39	1	1975	1	ATP2B1	12	90010761	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	267606	90010761	43841134	710	34775											
CCDC41	51134	broad.mit.edu	37	chr12	94729387	94729387	+	Frame_Shift_Del	DEL	T	T	-													gttttaggtcagaattttcaTttttttccttctctgcattt							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:94729387delT	uc001tdd.2	-	12	1983	c.1397delA	c.(1396-1398)AATfs	p.N466fs	CCDC41_uc001tde.2_Frame_Shift_Del_p.N466fs|CCDC41_uc009zsw.1_RNA	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	NY-REN-58 antigen	458	Potential.										0						AGAATTTTCATTTTTTTCCTT	0.269													-	94729387	T	-	94729387	7	5	37	1	0	1	0	1	0	0	0	0	2813	1493	52	0	732	0	CCDC41	12	94729387	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	4718626	94729387	39122508	711	34776											
CCDC41	51134	broad.mit.edu	37	chr12	94772789	94772791	+	In_Frame_Del	DEL	TTC	TTC	-													ttaagcagctggttacgtagTtcttctttatcttcctccag							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:94772788_94772790GTTC>G	uc001tdd.3	-	6	1164_1166	c.578_580GAAC>C	c.(577-582)gaacta>gCta	p.193_194EL>A	CCDC41_uc001tde.3_In_Frame_Del_p.193_194EL>A|CCDC41_uc009zsw.1_Non-coding_Transcript|CCDC41_uc001tdf.3_In_Frame_Del_p.193_194EL>A	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA.	185										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TGGTTACGTAGTTCTTCTTTATC	0.315													-	94772791	TTC	-	94772789	7	5	37	1	0	1	0	1	0	0	0	0	2813	1722	60	0	1570	0	CCDC41	12	94772789	In_Frame_Del	DEL	TTC	TCGA-BR-6566-01A-11D-1800-08	43402	94772789	39079106	712	34777											
VEZT	55591	broad.mit.edu	37	chr12	95656840	95656840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccaacactttgctccctGgcaacccctaatatttggta	5	14	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:95656840G>A	uc001tdz.2	+	4	522	c.417G>A	c.(415-417)CTG>CTA	p.L139L	VEZT_uc009zsy.1_Intron|VEZT_uc001tdr.2_Intron|VEZT_uc001tds.2_Silent_p.L91L|VEZT_uc001tdt.2_Silent_p.L91L|VEZT_uc009zsz.1_Silent_p.L139L|VEZT_uc001tdv.2_Silent_p.L108L|VEZT_uc001tdw.1_Silent_p.L91L|VEZT_uc009zta.1_Silent_p.L91L	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane	139	Helical; (Potential).					acrosomal vesicle|adherens junction|integral to membrane|nucleus				ovary(1)	1						TTTGCTCCCTGGCAACCCCTA	0.448													A	95656840	G	A	95656840	2	1	37	1	0	0	0	0	0	0	0	1	17153	1335	47	4		4	VEZT	12	95656840	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	884051	95656840	38195055	713	34778											
APAF1	317	broad.mit.edu	37	chr12	99061338	99061338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcagagatatcaccagccGcatactctttcaccagatca	5	13	5	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:99061338G>A	uc001tfz.2	+	10	1987	c.1410G>A	c.(1408-1410)CCG>CCA	p.P470P	APAF1_uc001tfy.2_Silent_p.P459P|APAF1_uc001tga.2_Silent_p.P459P|APAF1_uc001tgb.2_Silent_p.P470P|APAF1_uc001tgc.2_Intron	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	470					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	ATCACCAGCCGCATACTCTTT	0.413													A	99061338	G	A	99061338	2	1	37	1	0	0	0	0	0	0	0	1	755	1074	38	1		1	APAF1	12	99061338	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3404498	99061338	34790557	714	34779											
GNPTAB	79158	broad.mit.edu	37	chr12	102164266	102164266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgacaatgaaaatattcCgaacccatggtgcatgcctc	9	10	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:102164266C>T	uc001tit.2	-	9	1210	c.1031G>A	c.(1030-1032)CGG>CAG	p.R344Q	GNPTAB_uc001tiu.1_Missense_Mutation_p.R344Q	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	344					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2						GAAAATATTCCGAACCCATGG	0.453													T	102164266	C	T	102164266	3	4	37	1	0	0	0	0	1	0	0	0	6545	652	23	1	2791	1	GNPTAB	12	102164266	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3102928	102164266	31687629	715	34780											
C12orf42	374470	broad.mit.edu	37	chr12	103699764	103699764	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atacttaccagaatttttctTgggactgctcaagggctggc	10	9	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:103699764T>C	uc001tjt.2	-	5	707	c.619A>G	c.(619-621)AAG>GAG	p.K207E	C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.K207E|C12orf42_uc001tju.2_Missense_Mutation_p.K112E	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	hypothetical protein LOC374470	207										ovary(1)|central_nervous_system(1)	2						GAATTTTTCTTGGGACTGCTC	0.418													C	103699764	T	C	103699764	3	2	37	1	0	0	0	0	1	0	0	0	1688	1821	63	3	471	3	C12orf42	12	103699764	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	1535498	103699764	30152131	716	34781											
STAB2	55576	broad.mit.edu	37	chr12	104140466	104140466	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctggattatgaaggtgaCggaatcacatgcacaggtaa	11	7	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:104140466C>T	uc001tjw.2	+	58	6414	c.6228C>T	c.(6226-6228)GAC>GAT	p.D2076D	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2076	Extracellular (Potential).|EGF-like 15.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						ATGAAGGTGACGGAATCACAT	0.348													T	104140466	C	T	104140466	2	4	37	1	0	0	0	0	0	0	0	1	15237	535	19	1		1	STAB2	12	104140466	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	440702	104140466	29711429	717	34782											
STAB2	55576	broad.mit.edu	37	chr12	104155080	104155080	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttctcatttccctagacGgagaccaggtttgttgatgg	10	10	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:104155080G>A	uc001tjw.2	+	66	7437	c.7251G>A	c.(7249-7251)ACG>ACA	p.T2417T	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2417	Extracellular (Potential).|FAS1 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.T2417M(1)		ovary(9)|skin(5)	14						TTCCCTAGACGGAGACCAGGT	0.512													A	104155080	G	A	104155080	2	1	37	1	0	0	0	0	0	0	0	1	15237	1103	39	1		1	STAB2	12	104155080	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	14614	104155080	29696815	718	34783											
C12orf45	121053	broad.mit.edu	37	chr12	105388460	105388460	+	Frame_Shift_Del	DEL	A	A	-													ttttggacagtccagcaagtAaaaaaaagaaatagtcaaat							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:105388459_105388459TA>T	uc001tlb.3	+	3	576	c.543_543TA>T	c.(541-543)agtfs	p.S181fs		NM_152318	NP_689531	Q8N5I9	CL045_HUMAN	Homo sapiens chromosome 12 open reading frame 45 (C12orf45), mRNA.	181										large_intestine(1)|lung(2)	3						GTCCAGCAAGTAAAAAAAAGA	0.353													-	105388460	A	-	105388460	7	5	37	1	0	1	0	1	0	0	0	0	1691	363	13	0	558	0	C12orf45	12	105388460	Frame_Shift_Del	DEL	A	TCGA-BR-6566-01A-11D-1800-08	1233380	105388460	28463435	719	34784											
APPL2	55198	broad.mit.edu	37	chr12	105601755	105601755	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagtattcttaccttctcAttctcctttttcttaggcag	4	10	4	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:105601755A>G	uc001tlf.1	-	7	686	c.468T>C	c.(466-468)AAT>AAC	p.N156N	APPL2_uc010swt.1_Silent_p.N113N|APPL2_uc001tlg.1_5'UTR|APPL2_uc010swu.1_Silent_p.N162N|APPL2_uc009zuq.2_Silent_p.N113N	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH	156	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			upper_aerodigestive_tract(1)	1						TTACCTTCTCATTCTCCTTTT	0.413													G	105601755	A	G	105601755	2	3	37	1	0	0	0	0	0	0	0	1	818	214	8	3		3	APPL2	12	105601755	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	213295	105601755	28250140	720	34785											
NUAK1	9891	broad.mit.edu	37	chr12	106466564	106466564	+	Frame_Shift_Del	DEL	A	A	-													tgcatagagtggactcccacAaaacgtttgtaagaacttat							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:106466563_106466563CA>C	uc001tlj.1	-	4	2018	c.638_638TG>G	c.(637-639)tgtfs	p.C213fs		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	213	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGGACTCCCACAAAACGTTTG	0.502													-	106466564	A	-	106466564	7	5	37	1	0	1	0	1	0	0	0	0	10712	130	5	0	1360	0	NUAK1	12	106466564	Frame_Shift_Del	DEL	A	TCGA-BR-6566-01A-11D-1800-08	864809	106466564	27385331	721	34786											
ACACB	32	broad.mit.edu	37	chr12	109644517	109644517	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgtggtgtctcatcaggcTgaaccgttcacaggagaact	11	10	3	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:109644517T>C	uc001tob.2	+	20	3035	c.2916T>C	c.(2914-2916)GCT>GCC	p.A972A	ACACB_uc001toc.2_Silent_p.A972A	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	972					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	CTCATCAGGCTGAACCGTTCA	0.572													C	109644517	T	C	109644517	2	2	37	1	0	0	0	0	0	0	0	1	107	1567	55	3		3	ACACB	12	109644517	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	3177953	109644517	24207378	722	34787											
ACACB	32	broad.mit.edu	37	chr12	109677741	109677741	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtgcgcaccgactgcaAccacatcttcctcaacttcg	7	17	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:109677741A>C	uc001tob.2	+	35	4888	c.4769A>C	c.(4768-4770)AAC>ACC	p.N1590T	ACACB_uc001toc.2_Missense_Mutation_p.N1590T|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.N256T	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1590					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	ACCGACTGCAACCACATCTTC	0.602													C	109677741	A	C	109677741	3	2	37	1	0	0	0	0	1	0	0	0	107	43	2	5	4903	5	ACACB	12	109677741	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	33224	109677741	24174154	723	34788											
ATXN2	6311	broad.mit.edu	37	chr12	111923108	111923108	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggcttgattcactggcaTgggcgtcataggtattgggt	14	7	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:111923108T>C	uc001tsj.2	-	18	3127	c.2965A>G	c.(2965-2967)ATG>GTG	p.M989V	ATXN2_uc001tsh.2_Missense_Mutation_p.M724V|ATXN2_uc001tsi.2_Missense_Mutation_p.M700V|ATXN2_uc001tsk.2_Intron|ATXN2_uc001tsg.2_Missense_Mutation_p.M175V	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	989	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						TTCACTGGCATGGGCGTCATA	0.368													C	111923108	T	C	111923108	3	2	37	1	0	0	0	0	1	0	0	0	1211	1464	51	3	1008	3	ATXN2	12	111923108	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	2245367	111923108	21928787	724	34789											
OAS1	4938	broad.mit.edu	37	chr12	113348918	113348918	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagctcatcgaggagtgcAccgacctgcagaaagagggc	13	11	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:113348918A>G	uc001tud.2	+	3	638	c.532A>G	c.(532-534)ACC>GCC	p.T178A	OAS1_uc010syn.1_Missense_Mutation_p.T177A|OAS1_uc010syo.1_Missense_Mutation_p.H161R|OAS1_uc001tub.2_Missense_Mutation_p.T178A|OAS1_uc001tuc.2_Missense_Mutation_p.T178A|OAS1_uc009zwf.2_Missense_Mutation_p.T177A	NM_016816	NP_058132	P00973	OAS1_HUMAN	2',5'-oligoadenylate synthetase 1 isoform 1	178					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(2)	2						CGAGGAGTGCACCGACCTGCA	0.527													G	113348918	A	G	113348918	3	3	37	1	0	0	0	0	1	0	0	0	10799	159	6	3	542	3	OAS1	12	113348918	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	1425810	113348918	20502977	725	34790											
RASAL1	8437	broad.mit.edu	37	chr12	113543607	113543607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagcgcgtggccaggccgGcaggctcctccttgcgcttc	13	16	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:113543607G>A	uc001tum.1	-	17	2032	c.1739C>T	c.(1738-1740)GCC>GTC	p.A580V	RASAL1_uc010syp.1_Missense_Mutation_p.A581V|RASAL1_uc001tul.2_Missense_Mutation_p.A580V|RASAL1_uc001tun.1_Missense_Mutation_p.A582V|RASAL1_uc010syq.1_Missense_Mutation_p.A581V|RASAL1_uc001tuo.3_Missense_Mutation_p.A581V	NM_004658	NP_004649	O95294	RASL1_HUMAN	RAS protein activator like 1	580	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			ovary(2)|skin(2)	4						GGCCAGGCCGGCAGGCTCCTC	0.627													A	113543607	G	A	113543607	3	1	37	1	0	0	0	0	1	0	0	0	13063	1203	42	2	699	2	RASAL1	12	113543607	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	194689	113543607	20308288	726	34791											
KSR2	283455	broad.mit.edu	37	chr12	118105367	118105367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggagcggagggagcgctcGgacagcagcggggagcgctg	21	9	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:118105367G>A	uc001two.2	-	5	1051	c.996C>T	c.(994-996)TCC>TCT	p.S332S		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	361					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGAGCGCTCGGACAGCAGCG	0.582													A	118105367	G	A	118105367	2	1	37	1	0	0	0	0	0	0	0	1	8582	1103	39	1		1	KSR2	12	118105367	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	4561760	118105367	15746528	727	34792											
CIT	11113	broad.mit.edu	37	chr12	120142226	120142226	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagaatgacgactttgctgGgcatggctgcacagatgcag	15	8	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:120142226G>T	uc001txi.1	-	40	5173	c.5120C>A	c.(5119-5121)CCC>CAC	p.P1707H	CIT_uc001txh.1_Missense_Mutation_p.P1226H|CIT_uc001txj.1_Missense_Mutation_p.P1749H	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1707	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GACTTTGCTGGGCATGGCTGC	0.502													T	120142226	G	T	120142226	3	4	37	1	0	0	0	0	1	0	0	0	3438	1232	43	5	995	5	CIT	12	120142226	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2036859	120142226	13709669	728	34793											
KNTC1	9735	broad.mit.edu	37	chr12	123082320	123082320	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagttcttcagctcttcatTgaaacgctgctccacaacac	6	14	4	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:123082320T>C	uc001ucv.2	+	44	4561	c.4398T>C	c.(4396-4398)ATT>ATC	p.I1466I	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1466					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AGCTCTTCATTGAAACGCTGC	0.512													C	123082320	T	C	123082320	2	2	37	1	0	0	0	0	0	0	0	1	8428	1800	63	3		3	KNTC1	12	123082320	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	2940094	123082320	10769575	729	34794											
HIP1R	9026	broad.mit.edu	37	chr12	123339495	123339495	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacagggaccggttccaCgagcagtttcacaggtactg	13	12	1	0	rs137994880		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:123339495C>T	uc001udj.1	+	9	821	c.762C>T	c.(760-762)CAC>CAT	p.H254H	HIP1R_uc001udg.1_Silent_p.H242H|HIP1R_uc001udi.1_Silent_p.H254H|HIP1R_uc001udk.1_5'Flank	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	254					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		ACCGGTTCCACGAGCAGTTTC	0.622													T	123339495	C	T	123339495	2	4	37	1	0	0	0	0	0	0	0	1	7115	535	19	1		1	HIP1R	12	123339495	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	257175	123339495	10512400	730	34795											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123648515	123648515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttggagtacttgatttacGatttgaaggtggtaaagatg	12	3	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:123648515G>A	uc001uel.2	-	15	2541	c.2434C>T	c.(2434-2436)CGT>TGT	p.R812C	MPHOSPH9_uc010tal.1_Missense_Mutation_p.R266C|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Missense_Mutation_p.R266C	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	812					M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CTTGATTTACGATTTGAAGGT	0.398													A	123648515	G	A	123648515	3	1	37	1	0	0	0	0	1	0	0	0	9728	1058	37	1	685	1	MPHOSPH9	12	123648515	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	309020	123648515	10203380	731	34796											
DNAH10	196385	broad.mit.edu	37	chr12	124297909	124297909	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacaaaaatggaagcggtatCgacctctctggaaattggac	10	8	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:124297909C>T	uc001uft.3	+	19	3014	c.2989C>T	c.(2989-2991)CGA>TGA	p.R997*	DNAH10_uc010tav.1_Nonsense_Mutation_p.R539*|DNAH10_uc010taw.1_Nonsense_Mutation_p.R482*	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	997	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAGCGGTATCGACCTCTCTG	0.393													T	124297909	C	T	124297909	4	4	37	1	0	0	0	0	0	1	0	0	4598	876	31	1	3063	1	DNAH10	12	124297909	Nonsense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	649394	124297909	9553986	732	34797											
NCOR2	9612	broad.mit.edu	37	chr12	124862855	124862855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctcctcatcctccaccaCgggcgggaatgcagcctcct	8	18	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:124862855C>T	uc010tba.1	-	18	2212	c.2095G>A	c.(2095-2097)GTG>ATG	p.V699M	NCOR2_uc010tay.1_Missense_Mutation_p.V699M|NCOR2_uc010taz.1_Missense_Mutation_p.V699M|NCOR2_uc010tbb.1_Missense_Mutation_p.V699M|NCOR2_uc010tbc.1_Missense_Mutation_p.V698M|NCOR2_uc001ugj.1_Missense_Mutation_p.V699M	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	699					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCTCCACCACGGGCGGGAAT	0.662													T	124862855	C	T	124862855	3	4	37	1	0	0	0	0	1	0	0	0	10236	536	19	1	5593	1	NCOR2	12	124862855	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	564946	124862855	8989040	733	34798											
TMEM132D	121256	broad.mit.edu	37	chr12	130184785	130184785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagccggcagctgccccGcacctctcgggtctctcgga	12	18	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:130184785G>A	uc009zyl.1	-	2	866	c.538C>T	c.(538-540)CGG>TGG	p.R180W		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	180	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CAGCTGCCCCGCACCTCTCGG	0.687													A	130184785	G	A	130184785	3	1	37	1	0	0	0	0	1	0	0	0	16044	1086	38	1	2793	1	TMEM132D	12	130184785	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	5321930	130184785	3667110	734	34799											
N6AMT2	221143	broad.mit.edu	37	chr13	21303256	21303256	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccagaatcataattcacaTaacagcgaaactcatttgcc	5	12	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:21303256T>C	uc001uno.1	-	5	689	c.608A>G	c.(607-609)TAT>TGT	p.Y203C	uc001unn.1_5'Flank|N6AMT2_uc009zzr.1_Missense_Mutation_p.Y203C|N6AMT2_uc001unp.2_RNA	NM_174928	NP_777588	Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2	203							methyltransferase activity|nucleic acid binding				0		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAATTCACATAACAGCGAAA	0.463													C	21303256	T	C	21303256	3	2	37	1	0	0	0	0	1	0	0	0	10115	1406	49	3	40	3	N6AMT2	13	21303256	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08		21303256	93866622	735	34800											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24465970	24465970	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggctttccaatagggcccaTggggcccggtaaaccagttg	13	11	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:24465970T>C	uc010tcw.1	-	3	460	c.460A>G	c.(460-462)ATG>GTG	p.M154V	MIPEP_uc001uox.3_5'Flank|PCOTH_uc001uoy.2_Missense_Mutation_p.M75T|PCOTH_uc009zzx.2_Missense_Mutation_p.M84T|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.1_Missense_Mutation_p.M154V	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	154	Collagen-like 2.					collagen					0						ATAGGGCCCATGGGGCCCGGT	0.632													C	24465970	T	C	24465970	3	2	37	1	0	0	0	0	1	0	0	0	1971	1464	51	3	544	3	C1QTNF9B	13	24465970	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	3162714	24465970	90703908	736	34801											
MTMR6	9107	broad.mit.edu	37	chr13	25825905	25825905	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaattgatggtacatgttcCtccaaaacctttatgacaaa	5	9	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:25825905C>A	uc001uqf.3	-	13	1806	c.1487G>T	c.(1486-1488)AGG>ATG	p.R496M	MTMR6_uc001uqe.1_Missense_Mutation_p.R496M	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	496	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)|skin(2)	4		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GTACATGTTCCTCCAAAACCT	0.274													A	25825905	C	A	25825905	3	1	37	1	0	0	0	0	1	0	0	0	9947	681	24	5	386	5	MTMR6	13	25825905	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1359935	25825905	89343973	737	34802											
ATP8A2	51761	broad.mit.edu	37	chr13	26043196	26043196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttggagaccagctggaggCacccgcccgcaccatttacc	11	15	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:26043196C>T	uc001uqk.2	+	2	300	c.158C>T	c.(157-159)GCA>GTA	p.A53V	ATP8A2_uc010tdi.1_Missense_Mutation_p.A13V|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.A13V	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	13	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CAGCTGGAGGCACCCGCCCGC	0.602													T	26043196	C	T	26043196	3	4	37	1	0	0	0	0	1	0	0	0	1193	710	25	2	164	2	ATP8A2	13	26043196	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	217291	26043196	89126682	738	34803											
FRY	10129	broad.mit.edu	37	chr13	32761728	32761728	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctgtctttgacaatgtgGgcctttccccagatggctac	10	13	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:32761728G>T	uc001utx.2	+	28	4022	c.3526G>T	c.(3526-3528)GGC>TGC	p.G1176C	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGACAATGTGGGCCTTTCCCC	0.393													T	32761728	G	T	32761728	3	4	37	1	0	0	0	0	1	0	0	0	6063	1232	43	5	3636	5	FRY	13	32761728	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	6718532	32761728	82408150	739	34804											
ELF1	1997	broad.mit.edu	37	chr13	41525494	41525494	+	Frame_Shift_Del	DEL	G	G	-													tttcatccagcatagggccaGgggaatccatattgaggagt							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:41525493_41525493AG>A	uc001uxs.3	-	3	706	c.333_333CT>T	c.(331-333)cctfs	p.P111fs	ELF1_uc010tfc.2_Frame_Shift_Del_p.P111fs|ELF1_uc010acd.3_Frame_Shift_Del_p.P4fs	NM_172373	NP_758961	P32519	ELF1_HUMAN	Homo sapiens E74-like factor 1 (ets domain transcription factor) (ELF1), transcript variant 1, mRNA.	111					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		GCATAGGGCCAGGGGAATCCA	0.368													-	41525494	G	-	41525494	7	5	37	1	0	1	0	1	0	0	0	0	5053	1000	35	0	1551	0	ELF1	13	41525494	Frame_Shift_Del	DEL	G	TCGA-BR-6566-01A-11D-1800-08	8763766	41525494	73644384	740	34805											
KIAA0564	23078	broad.mit.edu	37	chr13	42179380	42179380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaacctttcataggttgcaGcatcgtattcactcatttgg	7	9	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:42179380G>A	uc001uyj.2	-	40	4980	c.4910C>T	c.(4909-4911)GCT>GTT	p.A1637V		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1637						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		ATAGGTTGCAGCATCGTATTC	0.408													A	42179380	G	A	42179380	3	1	37	1	0	0	0	0	1	0	0	0	8185	971	34	2	831	2	KIAA0564	13	42179380	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	653886	42179380	72990498	741	34806											
TSC22D1	8848	broad.mit.edu	37	chr13	45147869	45147869	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgttgaggaaggcttggaGcactagtttgaactccctga	12	7	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:45147869G>T	uc001uzn.3	-	1	2833	c.2342C>A	c.(2341-2343)GCT>GAT	p.A781D	TSC22D1_uc001uzo.1_Intron	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	781	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AAGGCTTGGAGCACTAGTTTG	0.478													T	45147869	G	T	45147869	3	4	37	1	0	0	0	0	1	0	0	0	16604	971	34	5	1020	5	TSC22D1	13	45147869	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2968489	45147869	70022009	742	34807											
ZC3H13	23091	broad.mit.edu	37	chr13	46539429	46539429	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agttacctggcatcttctccTcatcctgttggtcctccctc	6	16	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:46539429T>G	uc010tfw.1	-	15	4463	c.4457A>C	c.(4456-4458)GAG>GCG	p.E1486A	ZC3H13_uc001vaq.2_Missense_Mutation_p.E71A|ZC3H13_uc001vas.1_Missense_Mutation_p.E1487A	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1486							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CATCTTCTCCTCATCCTGTTG	0.393													G	46539429	T	G	46539429	3	3	37	1	0	0	0	0	1	0	0	0	17562	1551	54	5	242	5	ZC3H13	13	46539429	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	1391560	46539429	68630449	743	34808											
CDADC1	81602	broad.mit.edu	37	chr13	49865876	49865876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaccaggacaagaagctgCgcctcggaatccactaagaa	10	12	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:49865876C>T	uc001vcu.2	+	10	1604	c.1528C>T	c.(1528-1530)CGC>TGC	p.R510C	CDADC1_uc010tgk.1_Missense_Mutation_p.R312C|CDADC1_uc001vcv.2_RNA	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	510							hydrolase activity|zinc ion binding	p.R510H(1)		upper_aerodigestive_tract(1)	1		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		CAAGAAGCTGCGCCTCGGAAT	0.458													T	49865876	C	T	49865876	3	4	37	1	0	0	0	0	1	0	0	0	3053	768	27	1	1566	1	CDADC1	13	49865876	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3326447	49865876	65304002	744	34809											
PCDH8	5100	broad.mit.edu	37	chr13	53420276	53420276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcgatggcgatgatggCggccagcagcagcgtgcagc	19	10	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:53420276C>T	uc001vhi.2	-	1	2499	c.2296G>A	c.(2296-2298)GCC>ACC	p.A766T	PCDH8_uc001vhj.2_Missense_Mutation_p.A766T	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	766	Helical; (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCGATGATGGCGGCCAGCAGC	0.607													T	53420276	C	T	53420276	3	4	37	1	0	0	0	0	1	0	0	0	11517	768	27	1	928	1	PCDH8	13	53420276	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3554400	53420276	61749602	745	34810											
TBC1D4	9882	broad.mit.edu	37	chr13	75898529	75898529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtacatgcgtcgaactgacGaaagattgctgagtacagaa	11	7	0	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:75898529G>A	uc001vjl.1	-	11	2389	c.2042C>T	c.(2041-2043)TCG>TTG	p.S681L	TBC1D4_uc010aer.2_Missense_Mutation_p.S681L|TBC1D4_uc010aes.2_Intron	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	681	Ser-rich.					cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TCGAACTGACGAAAGATTGCT	0.393													A	75898529	G	A	75898529	3	1	37	1	0	0	0	0	1	0	0	0	15619	1059	37	1	1898	1	TBC1D4	13	75898529	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	22478253	75898529	39271349	746	34811											
LMO7	4008	broad.mit.edu	37	chr13	76382165	76382165	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattagttccttcatatcgGcagaagaaagatgacatgct	8	7	1	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:76382165G>A	uc001vjv.2	+	7	1807	c.1047G>A	c.(1045-1047)CGG>CGA	p.R349R	LMO7_uc010thv.1_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc010thw.1_Intron|LMO7_uc001vjw.1_Silent_p.R255R	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	634						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTTCATATCGGCAGAAGAAAG	0.448													A	76382165	G	A	76382165	2	1	37	1	0	0	0	0	0	0	0	1	8855	1190	42	2		2	LMO7	13	76382165	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	483636	76382165	38787713	747	34812											
MYCBP2	23077	broad.mit.edu	37	chr13	77732134	77732134	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatcatccagaaaagactgTtcattgctttggatttggag	9	6	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:77732134T>C	uc001vkf.2	-	46	6685	c.6594A>G	c.(6592-6594)GAA>GAG	p.E2198E	MYCBP2_uc010aev.2_Silent_p.E1602E	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAAAAGACTGTTCATTGCTTT	0.393													C	77732134	T	C	77732134	2	2	37	1	0	0	0	0	0	0	0	1	10018	1722	60	3		3	MYCBP2	13	77732134	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	1349969	77732134	37437744	748	34813											
EDNRB	1910	broad.mit.edu	37	chr13	78492668	78492668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgcaggcaagaaccagcGcaaccagggcgcgtccgcac	14	16	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:78492668G>A	uc001vko.2	-	1	299	c.41C>T	c.(40-42)GCG>GTG	p.A14V	uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.A14V|EDNRB_uc010aez.1_Missense_Mutation_p.A14V|EDNRB_uc001vkp.1_Missense_Mutation_p.A97V|EDNRB_uc010afa.1_Missense_Mutation_p.A14V	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	14					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	AAGAACCAGCGCAACCAGGGC	0.637											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	78492668	G	A	78492668	3	1	37	1	0	0	0	0	1	0	0	0	4920	1087	38	1	1436	1	EDNRB	13	78492668	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	760534	78492668	36677210	749	34814											
SLITRK5	26050	broad.mit.edu	37	chr13	88329399	88329399	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagctcaaagtgggcgtcCtagtggacgaggtgatctgt	15	8	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:88329399C>A	uc001vln.2	+	2	1975	c.1756C>A	c.(1756-1758)CTA>ATA	p.L586I	SLITRK5_uc010tic.1_Missense_Mutation_p.L345I	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	586	LRRCT 2.|Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AGTGGGCGTCCTAGTGGACGA	0.517													A	88329399	C	A	88329399	3	1	37	1	0	0	0	0	1	0	0	0	14746	680	24	5	1758	5	SLITRK5	13	88329399	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	9836731	88329399	26840479	750	34815											
STK24	8428	broad.mit.edu	37	chr13	99118674	99118674	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcctccacaaactccttgaGgggtttactgtagtttcctt	9	11	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:99118674G>T	uc001vnm.1	-	6	1010	c.775C>A	c.(775-777)CTC>ATC	p.L259I	STK24_uc001vnn.1_Missense_Mutation_p.L247I|STK24_uc010tim.1_Missense_Mutation_p.L228I	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24 isoform a	259	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AACTCCTTGAGGGGTTTACTG	0.493													T	99118674	G	T	99118674	3	4	37	1	0	0	0	0	1	0	0	0	15292	1000	35	5	580	5	STK24	13	99118674	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	10789275	99118674	16051204	751	34816											
OR11H4	390442	broad.mit.edu	37	chr14	20711372	20711372	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccatctgccacccactgcAgtaccctgccatcatgactg	8	17	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:20711372A>G	uc010tld.1	+	1	422	c.422A>G	c.(421-423)CAG>CGG	p.Q141R		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H,	141	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CACCCACTGCAGTACCCTGCC	0.453													G	20711372	A	G	20711372	3	3	37	1	0	0	0	0	1	0	0	0	10928	188	7	3	424	3	OR11H4	14	20711372	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08		20711372	86638168	752	34817											
METT11D1	64745	broad.mit.edu	37	chr14	21460309	21460309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcagacagaggagaaacttCgtggagcagtgctacacgca	12	10	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:21460309C>T	uc001vyn.2	+	4	588	c.391C>T	c.(391-393)CGT>TGT	p.R131C	METT11D1_uc010tlk.1_Silent_p.F141F|METT11D1_uc001vym.2_Missense_Mutation_p.R131C|METT11D1_uc001vyo.2_Missense_Mutation_p.R131C|METT11D1_uc001vyp.2_5'UTR|METT11D1_uc001vyq.2_5'UTR	NM_022734	NP_073571	Q9H7H0	MET17_HUMAN	methyltransferase 11 domain containing 1 isoform	131					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity				0	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GGAGAAACTTCGTGGAGCAGT	0.483													T	21460309	C	T	21460309	3	4	37	1	0	0	0	0	1	0	0	0	9491	884	31	1	405	1	METT11D1	14	21460309	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	748937	21460309	85889231	753	34818											
PCK2	5106	broad.mit.edu	37	chr14	24568857	24568857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaccaacctggctatgatgCggcctgcactgccaggctgg	13	13	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:24568857C>T	uc001wlt.2	+	6	1075	c.943C>T	c.(943-945)CGG>TGG	p.R315W	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Missense_Mutation_p.R327W|PCK2_uc001wls.2_Missense_Mutation_p.R315W|PCK2_uc010tnw.1_Missense_Mutation_p.R181W|PCK2_uc010ald.2_Missense_Mutation_p.R167W|PCK2_uc010ale.2_3'UTR|PCK2_uc010tnx.1_Missense_Mutation_p.R181W|PCK2_uc001wlu.3_Missense_Mutation_p.R181W	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	315					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)		GGCTATGATGCGGCCTGCACT	0.562													T	24568857	C	T	24568857	3	4	37	1	0	0	0	0	1	0	0	0	11582	759	27	1	965	1	PCK2	14	24568857	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3108548	24568857	82780683	754	34819											
IRF9	10379	broad.mit.edu	37	chr14	24633132	24633133	+	In_Frame_Ins	INS	-	-	AGC													agtccattcagacattgggaINSgcagcagcagcagcagcagc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:24633131_24633132G>GAGC	uc001wmq.3	+	4	1360_1361	c.540_541G>GAGC	c.(538-543)gggagc>ggGAGCgc	p.180_181GS>GS	RNF31_uc001wmp.3_Non-coding_Transcript|IRF9_uc010alj.3_In_Frame_Ins_p.78_79GS>GS	NM_006084	NP_006075	Q00978	IRF9_HUMAN	Homo sapiens interferon regulatory factor 9 (IRF9), mRNA.	180					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CAGACATTGGGagcagcagcag	0.564													AGC	24633133	-	AGC	24633132	7	5	37	1	0	1	1	0	0	0	0	0	7837	304	11	0	555	0	IRF9	14	24633132	In_Frame_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	64275	24633132	82716408	755	34820											
TM9SF1	10548	broad.mit.edu	37	chr14	24663934	24663934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctcttctccacgttttcccGaaagcggatctcatacaaag	6	13	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:24663934G>A	uc001wnb.1	-	2	640	c.292C>T	c.(292-294)CGG>TGG	p.R98W	TM9SF1_uc010toa.1_Missense_Mutation_p.R11W|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Missense_Mutation_p.R333W|TM9SF1_uc001wnc.2_Missense_Mutation_p.R98W|TM9SF1_uc001wnd.2_5'Flank	NM_006405	NP_006396	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1 isoform a	98					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0183)		ACGTTTTCCCGAAAGCGGATC	0.532													A	24663934	G	A	24663934	3	1	37	1	0	0	0	0	1	0	0	0	15974	1057	37	1	1591	1	TM9SF1	14	24663934	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	30802	24663934	82685606	756	34821											
GZMH	2999	broad.mit.edu	37	chr14	25078817	25078817	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacaggaggaggaatggctgCattttctcaggaaggctgcc	14	8	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:25078817C>A	uc001wpr.1	-	1	48	c.3G>T	c.(1-3)ATG>ATT	p.M1I	GZMH_uc010aly.1_Missense_Mutation_p.M1I|GZMH_uc010alz.1_Missense_Mutation_p.M1I	NM_033423	NP_219491	P20718	GRAH_HUMAN	granzyme H precursor	1					apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(265;0.0267)		GGAATGGCTGCATTTTCTCAG	0.512													A	25078817	C	A	25078817	3	1	37	1	0	0	0	0	1	0	0	0	6917	710	25	5	757	5	GZMH	14	25078817	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	414883	25078817	82270723	757	34822											
NPAS3	64067	broad.mit.edu	37	chr14	34029327	34029327	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttattctttttcctgcagTccctggatggctttgtattt	7	8	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:34029327T>C	uc001wru.2	+	5	533	c.469T>C	c.(469-471)TCC>CCC	p.S157P	NPAS3_uc001wrs.2_Missense_Mutation_p.S144P|NPAS3_uc001wrt.2_Missense_Mutation_p.S125P|NPAS3_uc001wrv.2_Missense_Mutation_p.S127P|NPAS3_uc001wrw.2_Missense_Mutation_p.S55P	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	157	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TTTCCTGCAGTCCCTGGATGG	0.313													C	34029327	T	C	34029327	3	2	37	1	0	0	0	0	1	0	0	0	10564	1681	58	3	542	3	NPAS3	14	34029327	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	8950510	34029327	73320213	758	34823											
PSMC6	5706	broad.mit.edu	37	chr14	53194224	53194224	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttattctctacaggtatgttCgcaattcgtgctgatcatga	8	8	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:53194224C>T	uc010tqx.1	+	14	1101	c.1101C>T	c.(1099-1101)TTC>TTT	p.F367F	STYX_uc010tqy.1_5'Flank|STYX_uc001xaa.2_5'Flank|PSMC6_uc001wzy.2_RNA	NM_002806	NP_002797	P62333	PRS10_HUMAN	proteasome 26S ATPase subunit 6	353					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			lung(1)	1	Breast(41;0.176)					CAGGTATGTTCGCAATTCGTG	0.323													T	53194224	C	T	53194224	2	4	37	1	0	0	0	0	0	0	0	1	12691	883	31	1		1	PSMC6	14	53194224	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	19164897	53194224	54155316	759	34824											
WDHD1	11169	broad.mit.edu	37	chr14	55477052	55477052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcagcaattttagtacCatccccattaaagaccacat	4	13	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:55477052C>T	uc001xbm.1	-	4	394	c.316G>A	c.(316-318)GGT>AGT	p.G106S	WDHD1_uc001xbn.1_5'UTR	NM_007086	NP_009017	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	106	WD 3.					cytoplasm|nucleoplasm	DNA binding			skin(1)	1						ATTTTAGTACCATCCCCATTA	0.373													T	55477052	C	T	55477052	3	4	37	1	0	0	0	0	1	0	0	0	17268	594	21	4	3165	4	WDHD1	14	55477052	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2282828	55477052	51872488	760	34825											
ARG2	384	broad.mit.edu	37	chr14	68086712	68086712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatgtccctaaggggcagCctctcgcgtctcctccagac	9	16	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:68086712C>T	uc001xjs.2	+	1	134	c.18C>T	c.(16-18)AGC>AGT	p.S6S		NM_001172	NP_001163	P78540	ARGI2_HUMAN	arginase 2 precursor	6					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding				0				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TAAGGGGCAGCCTCTCGCGTC	0.627													T	68086712	C	T	68086712	2	4	37	1	0	0	0	0	0	0	0	1	858	738	26	2		2	ARG2	14	68086712	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	12609660	68086712	39262828	761	34826											
RDH11	51109	broad.mit.edu	37	chr14	68159192	68159192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaagctcgaatagacttAgtatcagacaggtccagttt	9	8	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:68159192A>G	uc001xjv.3	-	3	402	c.312T>C	c.(310-312)ACT>ACC	p.T104T	RDH11_uc001xjw.3_Silent_p.T91T|RDH11_uc001xjx.3_Silent_p.T104T	NM_016026	NP_057110	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11	104	Cytoplasmic (Potential).				retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(1)	1				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	GAATAGACTTAGTATCAGACA	0.448													G	68159192	A	G	68159192	2	3	37	1	0	0	0	0	0	0	0	1	13190	407	15	3		3	RDH11	14	68159192	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	72480	68159192	39190348	762	34827											
ADAM20	8748	broad.mit.edu	37	chr14	70990275	70990275	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtctaaatatattccctggAtatggaggcggttgaataca	10	6	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:70990275A>G	uc001xme.2	-	2	1595	c.1350T>C	c.(1348-1350)TAT>TAC	p.Y450Y		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	400	Peptidase M12B.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TATTCCCTGGATATGGAGGCG	0.423													G	70990275	A	G	70990275	2	3	37	1	0	0	0	0	0	0	0	1	242	340	12	3		3	ADAM20	14	70990275	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	2831083	70990275	36359265	763	34828											
SIPA1L1	26037	broad.mit.edu	37	chr14	72171482	72171482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttcaattcttttgtcctcGagcagcatgaatatacaggt	7	8	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:72171482G>A	uc001xms.2	+	13	4039	c.3691G>A	c.(3691-3693)GAG>AAG	p.E1231K	SIPA1L1_uc001xmt.2_Intron|SIPA1L1_uc001xmu.2_Intron|SIPA1L1_uc001xmv.2_Missense_Mutation_p.E1231K|SIPA1L1_uc010ttm.1_Intron|SIPA1L1_uc001xmw.2_Intron	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1231					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTTTGTCCTCGAGCAGCATGA	0.388													A	72171482	G	A	72171482	3	1	37	1	0	0	0	0	1	0	0	0	14329	1059	37	1	3737	1	SIPA1L1	14	72171482	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1181207	72171482	35178058	764	34829											
NRXN3	9369	broad.mit.edu	37	chr14	79270136	79270136	+	Frame_Shift_Del	DEL	G	G	-													ccctgcgtctggagctggatGgggggcgtgtcaagctcatg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:79270135_79270135TG>T	uc001xun.3	+	5	1589	c.1098_1098TG>T	c.(1096-1098)gatfs	p.D366fs	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Frame_Shift_Del_p.D500fs	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	144					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGAGCTGGATGGGGGGCGTG	0.542													-	79270136	G	-	79270136	7	5	37	1	0	1	0	1	0	0	0	0	10667	1348	47	0	1113	0	NRXN3	14	79270136	Frame_Shift_Del	DEL	G	TCGA-BR-6566-01A-11D-1800-08	7098654	79270136	28079404	765	34830											
FOXN3	1112	broad.mit.edu	37	chr14	89747303	89747303	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagggacctaccttggagaaGggctccatttctcttgaaga	11	9	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:89747303G>T	uc001xxo.3	-	4	873	c.736C>A	c.(736-738)CTT>ATT	p.L246I	FOXN3_uc001xxn.3_Missense_Mutation_p.L246I|FOXN3_uc010atk.2_Missense_Mutation_p.L246I	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	checkpoint suppressor 1 isoform 1	246					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(2)|ovary(1)	3						CCTTGGAGAAGGGCTCCATTT	0.517													T	89747303	G	T	89747303	3	4	37	1	0	0	0	0	1	0	0	0	6021	1000	35	5	752	5	FOXN3	14	89747303	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	10477167	89747303	17602237	766	34831											
C14orf102	55051	broad.mit.edu	37	chr14	90755357	90755357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaagcaaccactccagatGtgcatactgcttccacaggc	8	15	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:90755357G>A	uc001xyi.1	-	11	2393	c.2362C>T	c.(2362-2364)CAT>TAT	p.H788Y	C14orf102_uc010atp.1_Missense_Mutation_p.H293Y|C14orf102_uc001xyj.1_Missense_Mutation_p.H557Y|C14orf102_uc001xyk.1_5'UTR	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	788	HAT 3.						protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		CACTCCAGATGTGCATACTGC	0.463													A	90755357	G	A	90755357	3	1	37	1	0	0	0	0	1	0	0	0	1735	1377	48	4	1148	4	C14orf102	14	90755357	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1008054	90755357	16594183	767	34832											
C14orf102	55051	broad.mit.edu	37	chr14	90767681	90767681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttctcagagtggccagCctgccgcagaaagtggcact	13	13	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:90767681C>T	uc001xyi.1	-	7	1478	c.1447G>A	c.(1447-1449)GCT>ACT	p.A483T	C14orf102_uc010atp.1_5'UTR|C14orf102_uc001xyj.1_Missense_Mutation_p.A252T	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	483							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		GAGTGGCCAGCCTGCCGCAGA	0.522													T	90767681	C	T	90767681	3	4	37	1	0	0	0	0	1	0	0	0	1735	739	26	2	2079	2	C14orf102	14	90767681	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	12324	90767681	16581859	768	34833											
SERPINA9	327657	broad.mit.edu	37	chr14	94929494	94929496	+	In_Frame_Del	DEL	ATC	ATC	-													cgtctgtggctttatttgtaAtcatcatcaggaaggtccta							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:94929493_94929495AATC>A	uc001ydf.3	-	4	1404_1406	c.1243_1245GATT>T	c.(1243-1245)att>T	p.I415del	SERPINA9_uc001yde.3_In_Frame_Del_p.I315del|SERPINA9_uc010avc.3_In_Frame_Del_p.I266del|SERPINA9_uc001ydg.3_In_Frame_Del_p.I379del	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	397					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CTTTATTTGTAATCATCATCAGG	0.463													-	94929496	ATC	-	94929494	7	5	37	1	0	1	0	1	0	0	0	0	14095	101	4	0	67	0	SERPINA9	14	94929494	In_Frame_Del	DEL	ATC	TCGA-BR-6566-01A-11D-1800-08	4161813	94929494	12420046	769	34834											
CLMN	79789	broad.mit.edu	37	chr14	95786119	95786119	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttggaaccagtcccactcgTgtgcagccatgaagcgcggg	14	12	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:95786119T>C	uc001yef.2	-	1	127	c.11A>G	c.(10-12)CAC>CGC	p.H4R		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	4	Actin-binding.|CH 1.					integral to membrane	actin binding				0				Epithelial(152;0.193)		GTCCCACTCGTGTGCAGCCAT	0.448													C	95786119	T	C	95786119	3	2	37	1	0	0	0	0	1	0	0	0	3542	1696	59	3	3049	3	CLMN	14	95786119	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	856625	95786119	11563421	770	34835											
ATG2B	55102	broad.mit.edu	37	chr14	96800759	96800759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctggtccagcaatagctGccaacatatccaaaagcaag	8	12	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:96800759G>A	uc001yfi.2	-	7	1369	c.1004C>T	c.(1003-1005)GCA>GTA	p.A335V		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	335										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGCAATAGCTGCCAACATATC	0.308													A	96800759	G	A	96800759	3	1	37	1	0	0	0	0	1	0	0	0	1094	1319	46	2	5376	2	ATG2B	14	96800759	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1014640	96800759	10548781	771	34836											
WDR25	79446	broad.mit.edu	37	chr14	100934422	100934422	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgcacacagaggcagtgcGggccgcccggtgggctccct	15	16	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:100934422G>T	uc010avx.2	+	3	980	c.887G>T	c.(886-888)CGG>CTG	p.R296L	WDR25_uc001yhm.2_Missense_Mutation_p.R288L|WDR25_uc001yhn.2_Missense_Mutation_p.R296L|WDR25_uc010avy.2_Intron|WDR25_uc001yho.2_Missense_Mutation_p.R39L	NM_001161476	NP_001154948	Q64LD2	WDR25_HUMAN	WD repeat domain 25	296	WD 2.										0		Melanoma(154;0.212)				GAGGCAGTGCGGGCCGCCCGG	0.617													T	100934422	G	T	100934422	3	4	37	1	0	0	0	0	1	0	0	0	17279	1116	39	5	893	5	WDR25	14	100934422	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	4133663	100934422	6415118	772	34837											
DYNC1H1	1778	broad.mit.edu	37	chr14	102505979	102505979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctcttgtcccaggtggCgtttaaccgagtggctcgag	13	12	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:102505979C>T	uc001yks.2	+	62	11764	c.11600C>T	c.(11599-11601)GCG>GTG	p.A3867V		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3867					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TCCCAGGTGGCGTTTAACCGA	0.577													T	102505979	C	T	102505979	3	4	37	1	0	0	0	0	1	0	0	0	4841	768	27	1	11846	1	DYNC1H1	14	102505979	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1571557	102505979	4843561	773	34838											
RCOR1	23186	broad.mit.edu	37	chr14	103174857	103174857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactattcttggaagaagaCgaggactaaaactagtgtga	10	5	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:103174857C>T	uc001ymb.2	+	6	707	c.707C>T	c.(706-708)ACG>ATG	p.T236M		NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	236	Interaction with HDAC1.|SANT 1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			ovary(1)	1						TGGAAGAAGACGAGGACTAAA	0.403													T	103174857	C	T	103174857	3	4	37	1	0	0	0	0	1	0	0	0	13182	536	19	1	729	1	RCOR1	14	103174857	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	668878	103174857	4174683	774	34839											
GPR132	29933	broad.mit.edu	37	chr14	105517586	105517586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacgccgttcaccgtggaCaggcacagaaacaccacaga	10	15	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:105517586C>T	uc001yqd.2	-	4	1787	c.888G>A	c.(886-888)CTG>CTA	p.L296L	GPR132_uc001yqc.2_Silent_p.L108L|GPR132_uc001yqe.2_Silent_p.L287L	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	296	Helical; Name=7; (Potential).				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TCACCGTGGACAGGCACAGAA	0.562													T	105517586	C	T	105517586	2	4	37	1	0	0	0	0	0	0	0	1	6642	465	17	4		4	GPR132	14	105517586	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2342729	105517586	1831954	775	34840											
PACS2	23241	broad.mit.edu	37	chr14	105849215	105849215	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctgcggacgtccaggcGgccttcagcaccatcgtctc	10	17	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:105849215G>A	uc001yqt.2	+	15	1753	c.1578G>A	c.(1576-1578)GCG>GCA	p.A526A	PACS2_uc001yqs.2_Silent_p.A451A|PACS2_uc001yqv.2_Silent_p.A530A|PACS2_uc001yqu.2_Silent_p.A530A	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	526					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		ACGTCCAGGCGGCCTTCAGCA	0.632													A	105849215	G	A	105849215	2	1	37	1	0	0	0	0	0	0	0	1	11373	1103	39	1		1	PACS2	14	105849215	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	331629	105849215	1500325	776	34841											
MKRN3	7681	broad.mit.edu	37	chr15	23811706	23811706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcgtggggagagctgtatGtacctccatggagacatatg	13	7	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:23811706G>A	uc001ywh.3	+	1	1253	c.777G>A	c.(775-777)ATG>ATA	p.M259I	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.M259I	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	259	C3H1-type 2.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGAGCTGTATGTACCTCCATG	0.542													A	23811706	G	A	23811706	3	1	37	1	0	0	0	0	1	0	0	0	9608	1377	48	4	779	4	MKRN3	15	23811706	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08		23811706	78719686	777	34842											
MKRN3	7681	broad.mit.edu	37	chr15	23812005	23812005	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttgagaacaggatcgtcaAgtcttgcccacagtgcaggg	13	9	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:23812005A>C	uc001ywh.3	+	1	1552	c.1076A>C	c.(1075-1077)AAG>ACG	p.K359T	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.K359T	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	359	RING-type.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGGATCGTCAAGTCTTGCCCA	0.493													C	23812005	A	C	23812005	3	2	37	1	0	0	0	0	1	0	0	0	9608	72	3	5	1078	5	MKRN3	15	23812005	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	299	23812005	78719387	778	34843											
C15orf2	23742	broad.mit.edu	37	chr15	24921372	24921372	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtaaggatccctcctcccAgccgcatgttcactctcctg	7	18	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:24921372A>G	uc001ywo.2	+	1	832	c.358A>G	c.(358-360)AGC>GGC	p.S120G		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	120					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCCTCCTCCCAGCCGCATGTT	0.652													G	24921372	A	G	24921372	3	3	37	1	0	0	0	0	1	0	0	0	1784	188	7	3	360	3	C15orf2	15	24921372	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	1109367	24921372	77610020	779	34844											
C15orf2	23742	broad.mit.edu	37	chr15	24922571	24922571	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agggagtccccaatatctatGtgtgtggattcccctcctcc	9	13	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:24922571G>C	uc001ywo.2	+	1	2031	c.1557G>C	c.(1555-1557)ATG>ATC	p.M519I		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	519	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CAATATCTATGTGTGTGGATT	0.557													C	24922571	G	C	24922571	3	2	37	1	0	0	0	0	1	0	0	0	1784	1377	48	5	1559	5	C15orf2	15	24922571	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1199	24922571	77608821	780	34845											
C15orf2	23742	broad.mit.edu	37	chr15	24922914	24922914	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tattccacaataccaccccaAgttttaaccaactctttgga	3	13	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:24922914A>T	uc001ywo.2	+	1	2374	c.1900A>T	c.(1900-1902)AGT>TGT	p.S634C		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	634					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TACCACCCCAAGTTTTAACCA	0.493													T	24922914	A	T	24922914	3	4	37	1	0	0	0	0	1	0	0	0	1784	72	3	5	1902	5	C15orf2	15	24922914	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	343	24922914	77608478	781	34846											
TJP1	7082	broad.mit.edu	37	chr15	30010323	30010323	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttagatgctacttctggaggCtgtttaaaaaaaaaaaaaaa	7	4	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:30010323C>A	uc001zcr.2	-	22	4352	c.3877_splice	c.e22-1	p.P1293_splice	TJP1_uc010azl.2_Splice_Site_p.P1281_splice|TJP1_uc001zcq.2_Splice_Site_p.P1217_splice|TJP1_uc001zcs.2_Splice_Site_p.P1213_splice	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a						cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTTCTGGAGGCTGTTTaaaaa	0.388													A	30010323	C	A	30010323	5	1	37	1	0	0	0	0	0	0	1	0	15926	811	28	5	1398	5	TJP1	15	30010323	Splice_Site	SNP	C	TCGA-BR-6566-01A-11D-1800-08	5087409	30010323	72521069	782	34847											
CHRNA7	1139	broad.mit.edu	37	chr15	32460281	32460281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagcgccgtggcgccgccGcccgccagcaacgggaacct	14	17	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:32460281G>A	uc001zft.2	+	10	1203	c.1131G>A	c.(1129-1131)CCG>CCA	p.P377P	uc001zfv.1_Intron|CHRNA7_uc010baf.2_Silent_p.P196P|CHRNA7_uc010bak.2_Silent_p.P292P	NM_000746	NP_000737	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7	377	Cytoplasmic (Potential).				activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			ovary(1)	1		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	TGGCGCCGCCGCCCGCCAGCA	0.706													A	32460281	G	A	32460281	2	1	37	1	0	0	0	0	0	0	0	1	3388	1074	38	1		1	CHRNA7	15	32460281	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2449958	32460281	70071111	783	34848											
IVD	3712	broad.mit.edu	37	chr15	40707611	40707611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgacaggctcatgcaagCggtcctggaccacaccattc	9	14	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:40707611C>T	uc001zls.3	+	9	1233	c.899C>T	c.(898-900)GCG>GTG	p.A300V	IVD_uc001zlq.2_Missense_Mutation_p.A270V|IVD_uc001zlr.2_Missense_Mutation_p.A3V	NM_002225	NP_002216	P26440	IVD_HUMAN	isovaleryl Coenzyme A dehydrogenase isoform 1	297					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			ovary(1)	1		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		CTCATGCAAGCGGTCCTGGAC	0.587													T	40707611	C	T	40707611	3	4	37	1	0	0	0	0	1	0	0	0	7928	768	27	1	933	1	IVD	15	40707611	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	8247330	40707611	61823781	784	34849											
VPS18	57617	broad.mit.edu	37	chr15	41192156	41192156	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccacaggccagctgtgggcCtacactgagcgggctgtctt	13	13	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:41192156C>A	uc001zne.2	+	4	1479	c.1140C>A	c.(1138-1140)GCC>GCA	p.A380A		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	380					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGCTGTGGGCCTACACTGAGC	0.607													A	41192156	C	A	41192156	2	1	37	1	0	0	0	0	0	0	0	1	17191	668	24	5		5	VPS18	15	41192156	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	484545	41192156	61339236	785	34850											
DLL4	54567	broad.mit.edu	37	chr15	41228487	41228487	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgtcctggattcacgggCacctactgtgaactccacgt	10	14	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:41228487C>T	uc001zng.1	+	9	1622	c.1302C>T	c.(1300-1302)GGC>GGT	p.G434G		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	delta-like 4 protein precursor	434	EGF-like 6.|Extracellular (Potential).				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(2)	2		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GATTCACGGGCACCTACTGTG	0.617													T	41228487	C	T	41228487	2	4	37	1	0	0	0	0	0	0	0	1	4568	697	25	2		2	DLL4	15	41228487	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	36331	41228487	61302905	786	34851											
RPAP1	26015	broad.mit.edu	37	chr15	41819655	41819655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgggccaggtcaggtggaGgccggctttcttcttcaggg	17	10	4	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:41819655G>A	uc001zod.2	-	12	1701	c.1577C>T	c.(1576-1578)CCT>CTT	p.P526L		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	526						nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GTCAGGTGGAGGCCGGCTTTC	0.557													A	41819655	G	A	41819655	3	1	37	1	0	0	0	0	1	0	0	0	13541	1000	35	4	2660	4	RPAP1	15	41819655	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	591168	41819655	60711737	787	34852											
SPTBN5	51332	broad.mit.edu	37	chr15	42147042	42147042	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcctcaatgcggctcctctGggcttggatgtggggatagc	15	10	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:42147042G>C	uc001zos.2	-	56	9784	c.9451C>G	c.(9451-9453)CAG>GAG	p.Q3151E		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3186	Spectrin 28.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGGCTCCTCTGGGCTTGGATG	0.622													C	42147042	G	C	42147042	3	2	37	1	0	0	0	0	1	0	0	0	15121	1357	47	5	1520	5	SPTBN5	15	42147042	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	327387	42147042	60384350	788	34853											
TGM5	9333	broad.mit.edu	37	chr15	43531359	43531359	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttcttctggagagcctcAccgttgctcatctcctgagg	9	14	5	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:43531359A>G	uc001zrd.1	-	8	1113	c.1105_splice	c.e8+1	p.G369_splice	TGM5_uc001zrc.1_Intron|TGM5_uc001zre.1_Splice_Site_p.G287_splice	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1						epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGAGAGCCTCACCGTTGCTCA	0.632													G	43531359	A	G	43531359	5	3	37	1	0	0	0	0	0	0	1	0	15830	173	6	3	1079	3	TGM5	15	43531359	Splice_Site	SNP	A	TCGA-BR-6566-01A-11D-1800-08	1384317	43531359	59000033	789	34854											
MAP1A	4130	broad.mit.edu	37	chr15	43816676	43816676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcctccaccatctggccCacccagtgccacccacacac	4	22	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:43816676C>T	uc001zrt.2	+	4	3472	c.3005C>T	c.(3004-3006)CCA>CTA	p.P1002L		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1002						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCATCTGGCCCACCCAGTGCC	0.582													T	43816676	C	T	43816676	3	4	37	1	0	0	0	0	1	0	0	0	9227	594	21	4	3007	4	MAP1A	15	43816676	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	285317	43816676	58714716	790	34855											
B2M	567	broad.mit.edu	37	chr15	45003747	45003747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagcattcgggccgagatGtctcgctccgtggccttagc	13	13	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:45003747G>A	uc001zuc.2	+	1	63	c.3G>A	c.(1-3)ATG>ATA	p.M1I	B2M_uc010uek.1_Missense_Mutation_p.M1I|B2M_uc010bdx.1_Missense_Mutation_p.M1I	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	1					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.M1V(2)		ovary(2)|skin(1)	3		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GGGCCGAGATGTCTCGCTCCG	0.612													A	45003747	G	A	45003747	3	1	37	1	0	0	0	0	1	0	0	0	1244	1377	48	4	5	4	B2M	15	45003747	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1187071	45003747	57527645	791	34856											
B2M	567	broad.mit.edu	37	chr15	45003781	45003782	+	Frame_Shift_Del	DEL	CT	CT	-													ccttagctgtgctcgcgctaCtctctctttctggcctggag					rs11553044		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:45003780_45003781ACT>A	uc001zuc.3	+	0	96_97	c.36_37ACT>A	c.(34-39)ctactcfs	p.L12fs	B2M_uc010uek.1_Frame_Shift_Del_p.L12fs|B2M_uc010bdx.1_Frame_Shift_Del_p.L12fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	12					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.L15fs*41(4)|p.A11fs*42(2)|p.L13F(2)|p.L12Q(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TGCTCGCGCTACTCTCTCTTTC	0.614													-	45003782	CT	-	45003781	7	5	37	1	0	1	0	1	0	0	0	0	1244	565	20	0	39	0	B2M	15	45003781	Frame_Shift_Del	DEL	CT	TCGA-BR-6566-01A-11D-1800-08	34	45003781	57527611	792	34857											
SEMA6D	80031	broad.mit.edu	37	chr15	48063126	48063126	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaccctgcaggccatgaAgagccactcagaaaaggccc	11	13	1	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:48063126A>G	uc010bek.2	+	19	2726	c.2366A>G	c.(2365-2367)AAG>AGG	p.K789R	SEMA6D_uc001zvw.2_Missense_Mutation_p.K727R|SEMA6D_uc001zvy.2_Missense_Mutation_p.K789R|SEMA6D_uc001zvz.2_Missense_Mutation_p.K733R|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.K727R|SEMA6D_uc001zwc.2_Missense_Mutation_p.K714R	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	789	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CAGGCCATGAAGAGCCACTCA	0.537													G	48063126	A	G	48063126	3	3	37	1	0	0	0	0	1	0	0	0	14042	72	3	3	2479	3	SEMA6D	15	48063126	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	3059345	48063126	54468266	793	34858											
FBN1	2200	broad.mit.edu	37	chr15	48780642	48780642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgccaatggtgtttctgCacttgccgtgggtgcagagg	15	9	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:48780642C>T	uc001zwx.1	-	26	3459	c.3131G>A	c.(3130-3132)TGC>TAC	p.C1044Y		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1044	EGF-like 15; calcium-binding.		C -> Y (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGTGTTTCTGCACTTGCCGTG	0.458													T	48780642	C	T	48780642	3	4	37	1	0	0	0	0	1	0	0	0	5702	710	25	2	5648	2	FBN1	15	48780642	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	717516	48780642	53750750	794	34859											
USP50	373509	broad.mit.edu	37	chr15	50836866	50836866	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacactgtgagatggcatTcacgcagcatgtgttgccca	12	10	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:50836866T>C	uc001zyq.3	-	2	346	c.166A>G	c.(166-168)AAT>GAT	p.N56D		NM_203494	NP_987090	E9PP86	E9PP86_HUMAN	ubiquitin specific protease 50	56					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			lung(1)|breast(1)	2				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		GAGATGGCATTCACGCAGCAT	0.493													C	50836866	T	C	50836866	3	2	37	1	0	0	0	0	1	0	0	0	17079	1783	62	3	862	3	USP50	15	50836866	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	2056224	50836866	51694526	795	34860											
UNC13C	440279	broad.mit.edu	37	chr15	54306720	54306720	+	Frame_Shift_Del	DEL	T	T	-													ctctggcactcacagagtgaTtttttcactgctaaacttag							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:54306719_54306719AT>A	uc021smr.1	+	0	1619	c.1619_1619AT>A	c.(1618-1620)gatfs	p.D540fs	UNC13C_uc021sms.1_Frame_Shift_Del_p.D540fs	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	540					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCACAGAGTGATTTTTTCACT	0.368													-	54306720	T	-	54306720	7	5	37	1	0	1	0	1	0	0	0	0	16983	1490	52	0	1622	0	UNC13C	15	54306720	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	3469854	54306720	48224672	796	34861											
GRINL1A	81488	broad.mit.edu	37	chr15	58001264	58001264	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaataagggcccagctTccagcaatagagacagggta	12	9	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:58001264T>C	uc002aet.3	+	2	606	c.466T>C	c.(466-468)TCC>CCC	p.S156P	GCOM1_uc002aem.2_Intron|GCOM1_uc002aeq.2_Intron|GCOM1_uc002aen.2_Intron|GCOM1_uc010bfy.2_Intron|GCOM1_uc002aeo.2_Intron|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_Intron|GRINL1A_uc002aes.2_Intron|GRINL1A_uc002aev.1_3'UTR|GRINL1A_uc010ugu.1_RNA|GRINL1A_uc002aeu.3_Intron	NM_015532	NP_056347	P0CAP1	GCOM1_HUMAN	glutamate receptor, ionotropic, N-methyl	247	Potential.				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band					0				all cancers(107;0.0697)|GBM - Glioblastoma multiforme(80;0.12)		GGGCCCAGCTTCCAGCAATAG	0.493													C	58001264	T	C	58001264	3	2	37	1	0	0	0	0	1	0	0	0	6786	1783	62	3	472	3	GRINL1A	15	58001264	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	3694544	58001264	44530128	797	34862											
RNF111	54778	broad.mit.edu	37	chr15	59368267	59368267	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcctcccgagctgcaAtctttggccatcaggccgct	8	15	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:59368267A>G	uc002afv.2	+	7	2080	c.1801A>G	c.(1801-1803)ATC>GTC	p.I601V	RNF111_uc002afs.2_Missense_Mutation_p.I601V|RNF111_uc002aft.2_Missense_Mutation_p.I601V|RNF111_uc002afu.2_Missense_Mutation_p.I600V|RNF111_uc002afw.2_Missense_Mutation_p.I601V|RNF111_uc002afx.2_Missense_Mutation_p.I127V	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	601					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)		CCGAGCTGCAATCTTTGGCCA	0.552													G	59368267	A	G	59368267	3	3	37	1	0	0	0	0	1	0	0	0	13425	101	4	3	1823	3	RNF111	15	59368267	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	1367003	59368267	43163125	798	34863											
TLN2	83660	broad.mit.edu	37	chr15	62989927	62989927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcaaccggaccgggaagGcagagcacggctcagtggcg	16	11	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:62989927G>A	uc002alb.3	+	12	1333	c.1333G>A	c.(1333-1335)GCA>ACA	p.A445T		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	445					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GACCGGGAAGGCAGAGCACGG	0.627													A	62989927	G	A	62989927	3	1	37	1	0	0	0	0	1	0	0	0	15945	1203	42	2	1379	2	TLN2	15	62989927	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3621660	62989927	39541465	799	34864											
MAP2K1	5604	broad.mit.edu	37	chr15	66737006	66737006	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctctaggtaataaaaggcCtgacatatctgagggagaag	11	7	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:66737006C>A	uc010bhq.2	+	5	1004	c.529C>A	c.(529-531)CTG>ATG	p.L177M	MAP2K1_uc010ujp.1_Missense_Mutation_p.L155M	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	177	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						AATAAAAGGCCTGACATATCT	0.323									Cardiofaciocutaneous_syndrome				A	66737006	C	A	66737006	3	1	37	1	0	0	0	0	1	0	0	0	9236	680	24	5	547	5	MAP2K1	15	66737006	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3747079	66737006	35794386	800	34865											
IQCH	64799	broad.mit.edu	37	chr15	67664873	67664873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaattcttcctcttttatcGccagcagaagtgggcatcag	8	10	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:67664873G>A	uc002aqo.1	+	9	1225	c.1178G>A	c.(1177-1179)CGC>CAC	p.R393H	IQCH_uc010ujv.1_Missense_Mutation_p.R212H|IQCH_uc002aqn.1_Missense_Mutation_p.R220H|IQCH_uc002aqq.1_Missense_Mutation_p.R141H|IQCH_uc002aqp.1_Missense_Mutation_p.R145H	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	393	IQ.									skin(3)|ovary(1)	4				Colorectal(3;0.0856)		CTCTTTTATCGCCAGCAGAAG	0.458													A	67664873	G	A	67664873	3	1	37	1	0	0	0	0	1	0	0	0	7811	1087	38	1	1340	1	IQCH	15	67664873	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	927867	67664873	34866519	801	34866											
UACA	55075	broad.mit.edu	37	chr15	70959562	70959562	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttttgattctccaacaatTgatgcagtttggtcactgtc	7	9	3	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:70959562T>C	uc002asr.2	-	16	3565	c.3461A>G	c.(3460-3462)CAA>CGA	p.Q1154R	UACA_uc010uke.1_Missense_Mutation_p.Q1045R|UACA_uc002asq.2_Missense_Mutation_p.Q1141R|UACA_uc010bin.1_Missense_Mutation_p.Q1129R	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	1154	Potential.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						CTCCAACAATTGATGCAGTTT	0.383													C	70959562	T	C	70959562	3	2	37	1	0	0	0	0	1	0	0	0	16821	1812	63	3	805	3	UACA	15	70959562	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	3294689	70959562	31571830	802	34867											
UBL7	84993	broad.mit.edu	37	chr15	74741564	74741564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgtgagagctgctctccGgagtgctggccagggccaag	17	10	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:74741564G>A	uc002axw.1	-	9	1007	c.845C>T	c.(844-846)CCG>CTG	p.P282L	UBL7_uc002axx.1_Missense_Mutation_p.P322L|UBL7_uc010bjr.1_Missense_Mutation_p.P173L|UBL7_uc002axy.1_Missense_Mutation_p.P282L|UBL7_uc002axz.1_Missense_Mutation_p.P282L	NM_032907	NP_116296	Q96S82	UBL7_HUMAN	ubiquitin-like 7	282							protein binding			ovary(1)	1						GCTGCTCTCCGGAGTGCTGGC	0.682													A	74741564	G	A	74741564	3	1	37	1	0	0	0	0	1	0	0	0	16887	1116	39	1	309	1	UBL7	15	74741564	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3782002	74741564	27789828	803	34868											
LMAN1L	79748	broad.mit.edu	37	chr15	75108840	75108840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttcgtgggacggcatcGggatcttctttgactctccg	13	11	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:75108840G>A	uc002ayt.1	+	3	405	c.403G>A	c.(403-405)GGG>AGG	p.G135R	LMAN1L_uc010bkd.2_Missense_Mutation_p.G63R|LMAN1L_uc010ulo.1_Intron|LMAN1L_uc010bke.1_Missense_Mutation_p.G135R	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like precursor	135	Lumenal (Potential).|L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0						GGACGGCATCGGGATCTTCTT	0.493													A	75108840	G	A	75108840	3	1	37	1	0	0	0	0	1	0	0	0	8837	1116	39	1	413	1	LMAN1L	15	75108840	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	367276	75108840	27422552	804	34869											
CSPG4	1464	broad.mit.edu	37	chr15	75970141	75970141	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgtcccgggcaggcggcgaGgacagctggagctctagggt	18	11	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:75970141G>T	uc002baw.2	-	9	5130	c.5037C>A	c.(5035-5037)TCC>TCA	p.S1679S		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1679	Extracellular (Potential).|Cysteine-containing.|Neurite growth inhibition (By similarity).|CSPG 11.				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						CAGGCGGCGAGGACAGCTGGA	0.622													T	75970141	G	T	75970141	2	4	37	1	0	0	0	0	0	0	0	1	3960	987	35	5		5	CSPG4	15	75970141	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	861301	75970141	26561251	805	34870											
CSPG4	1464	broad.mit.edu	37	chr15	75979870	75979870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggctggctgaccagccCggactagctgtccccagcga	13	15	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:75979870C>T	uc002baw.2	-	3	3629	c.3536G>A	c.(3535-3537)CGG>CAG	p.R1179Q		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1179	Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|CSPG 7.				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						CTGACCAGCCCGGACTAGCTG	0.657													T	75979870	C	T	75979870	3	4	37	1	0	0	0	0	1	0	0	0	3960	652	23	1	3464	1	CSPG4	15	75979870	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	9729	75979870	26551522	806	34871											
MEX3B	84206	broad.mit.edu	37	chr15	82336148	82336148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgcagctcggggcagcCgtcgggggatggcactgagg	21	10	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:82336148C>T	uc002bgq.1	-	2	1378	c.1063G>A	c.(1063-1065)GGC>AGC	p.G355S		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	355					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						TCGGGGCAGCCGTCGGGGGAT	0.652													T	82336148	C	T	82336148	3	4	37	1	0	0	0	0	1	0	0	0	9510	652	23	1	650	1	MEX3B	15	82336148	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	6356278	82336148	20195244	807	34872											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84582089	84582089	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagacgacttacgactgggAgtacgctgggttcacccctt	12	11	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:84582089A>G	uc002bjz.3	+	16	2170	c.1946A>G	c.(1945-1947)GAG>GGG	p.E649G	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.E649G|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.E649G	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	649						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			TACGACTGGGAGTACGCTGGG	0.542													G	84582089	A	G	84582089	3	3	37	1	0	0	0	0	1	0	0	0	276	304	11	3	2004	3	ADAMTSL3	15	84582089	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	2245941	84582089	17949303	808	34873											
POLG	5428	broad.mit.edu	37	chr15	89862219	89862219	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgcagcagcccagcaccggGgtacgtggtatgtcagacgt	14	11	1	1	rs146936870		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:89862219G>C	uc002bns.3	-	20	3498	c.3216C>G	c.(3214-3216)ACC>ACG	p.T1072T	POLG_uc002bnr.3_Silent_p.T1072T	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	1072					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCAGCACCGGGGTACGTGGTA	0.587								DNA_polymerases_(catalytic_subunits)					C	89862219	G	C	89862219	2	2	37	1	0	0	0	0	0	0	0	1	12200	1219	43	5		5	POLG	15	89862219	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	5280130	89862219	12669173	809	34874											
IQGAP1	8826	broad.mit.edu	37	chr15	91019925	91019926	+	Frame_Shift_Ins	INS	-	-	A													ccacagtaaaaaacttaccaINSaaaaaaataaggaacagttg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:91019924_91019925C>CA	uc002bpl.1	+	23	2915_2916	c.2814_2815C>CA	c.(2812-2817)accaaafs	p.T938fs		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	938					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding	p.L937R(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAAAACTTACCAAAAAAAATAA	0.361													A	91019926	-	A	91019925	7	5	37	1	0	1	1	0	0	0	0	0	7814	131	5	0	2909	0	IQGAP1	15	91019925	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	1157706	91019925	11511467	810	34875											
TM2D3	80213	broad.mit.edu	37	chr15	102182698	102182698	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagctaaatgtacaaagagCcatctgctggtccaacatag	8	10	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:102182698C>A	uc002bxi.2	-	6	758	c.728G>T	c.(727-729)GGC>GTC	p.G243V	TM2D3_uc010usg.1_Intron|TM2D3_uc002bxh.2_Missense_Mutation_p.G178V|TM2D3_uc002bxj.2_Missense_Mutation_p.G217V|TM2D3_uc002bxk.2_Missense_Mutation_p.G178V	NM_078474	NP_510883	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3 isoform a	243						integral to membrane				ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTACAAAGAGCCATCTGCTGG	0.502													A	102182698	C	A	102182698	3	1	37	1	0	0	0	0	1	0	0	0	15962	739	26	5	19	5	TM2D3	15	102182698	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	11162773	102182698	348694	811	34876											
WDR90	197335	broad.mit.edu	37	chr16	711649	711649	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcacggccacctatgacctCgtgtcctccacccgcctccc	8	21	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:711649C>T	uc002cii.1	+	31	3780	c.3726C>T	c.(3724-3726)CTC>CTT	p.L1242L	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Silent_p.L769L|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Silent_p.L416L|WDR90_uc002cin.1_5'UTR	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1242	WD 13.									ovary(1)	1		Hepatocellular(780;0.0218)				CCTATGACCTCGTGTCCTCCA	0.687													T	711649	C	T	711649	2	4	37	1	0	0	0	0	0	0	0	1	17334	871	31	1		1	WDR90	16	711649	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08		711649	89643104	812	34877											
SSTR5	6755	broad.mit.edu	37	chr16	1129861	1129861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggtgccaaggacgctgaCgccacggagccgcgtccaga	14	14	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:1129861C>T	uc002ckq.2	+	1	1081	c.993C>T	c.(991-993)GAC>GAT	p.D331D	LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	NM_001053	NP_001044	P35346	SSR5_HUMAN	somatostatin receptor 5	331	Cytoplasmic (Potential).				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			lung(1)	1		Hepatocellular(780;0.00369)			Octreotide(DB00104)	AGGACGCTGACGCCACGGAGC	0.662													T	1129861	C	T	1129861	2	4	37	1	0	0	0	0	0	0	0	1	15200	535	19	1		1	SSTR5	16	1129861	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	418212	1129861	89224892	813	34878											
TELO2	9894	broad.mit.edu	37	chr16	1551731	1551731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagatcgtggatggcggcGtcccccaagcacagctggcg	15	13	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:1551731G>A	uc002cly.2	+	11	1720	c.1429G>A	c.(1429-1431)GTC>ATC	p.V477I		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	TEL2, telomere maintenance 2, homolog	477						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding				0		Hepatocellular(780;0.219)				GGATGGCGGCGTCCCCCAAGC	0.647													A	1551731	G	A	1551731	3	1	37	1	0	0	0	0	1	0	0	0	15754	1145	40	1	1467	1	TELO2	16	1551731	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	421870	1551731	88803022	814	34879											
PKD1	5310	broad.mit.edu	37	chr16	2164521	2164521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggtgggcacgtagaggcGgccgtcgcggggggcagggt	23	8	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:2164521G>A	uc002cos.1	-	11	2712	c.2503C>T	c.(2503-2505)CGC>TGC	p.R835C	PKD1_uc002cot.1_Missense_Mutation_p.R835C	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	835	Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						ACGTAGAGGCGGCCGTCGCGG	0.692													A	2164521	G	A	2164521	3	1	37	1	0	0	0	0	1	0	0	0	11963	1116	39	1	10552	1	PKD1	16	2164521	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	612790	2164521	88190232	815	34880											
ZNF213	7760	broad.mit.edu	37	chr16	3190766	3190766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccaggccagacaggcagCgacgtgactgtgtcctggag	16	11	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:3190766C>T	uc010uws.1	+	6	1245	c.798C>T	c.(796-798)AGC>AGT	p.S266S	ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Silent_p.S266S|ZNF213_uc010uwt.1_3'UTR	NM_004220	NP_004211	O14771	ZN213_HUMAN	zinc finger protein 213	266	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGACAGGCAGCGACGTGACTG	0.692													T	3190766	C	T	3190766	2	4	37	1	0	0	0	0	0	0	0	1	17766	767	27	1		1	ZNF213	16	3190766	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1026245	3190766	87163987	816	34881											
MEFV	4210	broad.mit.edu	37	chr16	3293871	3293871	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcacttaccagcatgtgccTgagcgccaatcagctccgga	11	14	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:3293871T>C	uc002cun.1	-	9	1821	c.1781A>G	c.(1780-1782)CAG>CGG	p.Q594R		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	594	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	AGCATGTGCCTGAGCGCCAAT	0.517													C	3293871	T	C	3293871	3	2	37	1	0	0	0	0	1	0	0	0	9459	1580	55	3	572	3	MEFV	16	3293871	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	103105	3293871	87060882	817	34882											
TIGD7	91151	broad.mit.edu	37	chr16	3349324	3349324	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atcatcatccaacttagtttCcaactccccacatttttcaa	1	14	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:3349324C>A	uc002cus.2	-	1	2077	c.1291G>T	c.(1291-1293)GAA>TAA	p.E431*	ZNF263_uc002cur.2_3'UTR	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	431					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						AACTTAGTTTCCAACTCCCCA	0.358													A	3349324	C	A	3349324	4	1	37	1	0	0	0	0	0	1	0	0	15898	864	30	5	362	5	TIGD7	16	3349324	Nonsense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	55453	3349324	87005429	818	34883											
CREBBP	1387	broad.mit.edu	37	chr16	3786719	3786719	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtaccactcctgcagtcGttttggcttgggtatttttt	9	8	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:3786719G>A	uc002cvv.2	-	27	4696	c.4492C>T	c.(4492-4494)CGA>TGA	p.R1498*	CREBBP_uc002cvw.2_Nonsense_Mutation_p.R1460*	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1498	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCCTGCAGTCGTTTTGGCTTG	0.507			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				A	3786719	G	A	3786719	4	1	37	1	0	0	0	0	0	1	0	0	3861	1153	40	1	2856	1	CREBBP	16	3786719	Nonsense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	437395	3786719	86568034	819	34884											
CREBBP	1387	broad.mit.edu	37	chr16	3808004	3808004	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtgtccagcttccgctTgatggtggagaggtccatgg	14	11	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:3808004T>C	uc002cvv.2	-	18	3619	c.3415A>G	c.(3415-3417)AAG>GAG	p.K1139E	CREBBP_uc002cvw.2_Missense_Mutation_p.K1101E	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1139	Bromo.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGCTTCCGCTTGATGGTGGAG	0.463			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				C	3808004	T	C	3808004	3	2	37	1	0	0	0	0	1	0	0	0	3861	1821	63	3	3969	3	CREBBP	16	3808004	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	21285	3808004	86546749	820	34885											
GLIS2	84662	broad.mit.edu	37	chr16	4384870	4384870	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcctgcccctcggctcCgggggggccctgcacctgcc	12	19	1	0	rs145025457		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:4384870C>T	uc002cwc.1	+	3	471	c.414C>T	c.(412-414)TCC>TCT	p.S138S		NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	138	Interaction with CTNND1 (By similarity).				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding				0						CCCTCGGCTCCGGGGGGGCCC	0.657													T	4384870	C	T	4384870	2	4	37	1	0	0	0	0	0	0	0	1	6446	639	23	1		1	GLIS2	16	4384870	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	576866	4384870	85969883	821	34886											
PPL	5493	broad.mit.edu	37	chr16	4935616	4935616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgcctccagctcctcccGcagctgcaagacctcatccg	8	19	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:4935616G>A	uc002cyd.1	-	22	3130	c.3040C>T	c.(3040-3042)CGG>TGG	p.R1014W		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1014	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						AGCTCCTCCCGCAGCTGCAAG	0.687													A	4935616	G	A	4935616	3	1	37	1	0	0	0	0	1	0	0	0	12334	1086	38	1	2234	1	PPL	16	4935616	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	550746	4935616	85419137	822	34887											
CLEC16A	23274	broad.mit.edu	37	chr16	11154827	11154827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggagcctgagacacagttGccgctgactcgggaggagga	18	9	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:11154827G>A	uc002dao.2	+	19	2294	c.2064G>A	c.(2062-2064)TTG>TTA	p.L688L	CLEC16A_uc002dan.3_Silent_p.L670L	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	688										ovary(1)|central_nervous_system(1)	2						AGACACAGTTGCCGCTGACTC	0.577													A	11154827	G	A	11154827	2	1	37	1	0	0	0	0	0	0	0	1	3500	1310	46	2		2	CLEC16A	16	11154827	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	6219211	11154827	79199926	823	34888											
RUNDC2A	84127	broad.mit.edu	37	chr16	12142456	12142456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccgaccccttgcctgtcGtgtccaggaatgtcagtgct	11	13	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:12142456G>A	uc002dbw.1	+	7	789	c.727G>A	c.(727-729)GTG>ATG	p.V243M		NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN	RUN domain containing 2A	243										ovary(1)	1						CTTGCCTGTCGTGTCCAGGAA	0.577			T	CIITA	PMBL|Hodgkin Lymphona|								A	12142456	G	A	12142456	3	1	37	1	0	0	0	0	1	0	0	0	13743	1145	40	1	753	1	RUNDC2A	16	12142456	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	987629	12142456	78212297	824	34889											
KIAA0430	9665	broad.mit.edu	37	chr16	15714308	15714308	+	Splice_Site	DEL	T	T	-													aaaaaatatacctaacttacTttttttcatagatatctgta							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:15714307_15714307CT>C	uc002ddr.3	-	13	2927	c.2720_splice	c.e13+1	p.K907_splice	KIAA0430_uc002ddq.3_Splice_Site_p.K741_splice|KIAA0430_uc010uzv.2_Splice_Site_p.K904_splice|KIAA0430_uc010uzw.2_Splice_Site_p.K907_splice	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	906						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ACCTAACTTACTTTTTTTCAT	0.388													-	15714308	T	-	15714308	8	5	37	1	0	1	0	1	0	0	1	0	8177	1623	56	0	2568	0	KIAA0430	16	15714308	Splice_Site	DEL	T	TCGA-BR-6566-01A-11D-1800-08	3571852	15714308	74640445	825	34890											
MYH11	4629	broad.mit.edu	37	chr16	15820795	15820797	+	In_Frame_Del	DEL	CTT	CTT	-													tcctgcacctgcgcctccagCttcttcttcttatgttccac							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:15820794_15820796GCTT>G	uc002ddx.3	-	28	3895_3897	c.3788_3790AAGC>C	c.(3787-3792)aagctg>aCtg	p.1263_1264KL>T	MYH11_uc002ddv.3_In_Frame_Del_p.1263_1264KL>T|MYH11_uc002ddw.3_In_Frame_Del_p.1256_1257KL>T|MYH11_uc002ddy.3_In_Frame_Del_p.1256_1257KL>T|MYH11_uc010bvg.3_In_Frame_Del_p.1088_1089KL>T|MYH11_uc010bvh.3_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1256			Missing (in AAT4).		axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.K1256delK(1)|p.K1263delK(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TGCGCCTCCAGCTTCTTCTTCTT	0.616			T	CBFB	AML								-	15820797	CTT	-	15820795	7	5	37	1	0	1	0	1	0	0	0	0	10031	796	28	0	2241	0	MYH11	16	15820795	In_Frame_Del	DEL	CTT	TCGA-BR-6566-01A-11D-1800-08	106487	15820795	74533958	826	34891											
TMC5	79838	broad.mit.edu	37	chr16	19451843	19451843	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattttggctccttagaaccGgactaccctggagctcagag	10	12	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:19451843G>A	uc002dgc.3	+	3	1232	c.483G>A	c.(481-483)CCG>CCA	p.P161P	TMC5_uc010vaq.1_Silent_p.P161P|TMC5_uc002dgb.3_Silent_p.P161P|TMC5_uc010var.1_Silent_p.P161P	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	161	Extracellular (Potential).					integral to membrane				skin(1)	1						CCTTAGAACCGGACTACCCTG	0.478													A	19451843	G	A	19451843	2	1	37	1	0	0	0	0	0	0	0	1	15985	1103	39	1		1	TMC5	16	19451843	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3631048	19451843	70902910	827	34892											
GDE1	51573	broad.mit.edu	37	chr16	19528399	19528399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaatgtcaaatcacacaatCgcccagtcccatcagtcgtc	5	15	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:19528399C>T	uc002dgh.2	-	2	538	c.374G>A	c.(373-375)CGA>CAA	p.R125Q	GDE1_uc002dgi.2_Missense_Mutation_p.R15Q	NM_016641	NP_057725	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	125	Lumenal (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3						ATCACACAATCGCCCAGTCCC	0.433													T	19528399	C	T	19528399	3	4	37	1	0	0	0	0	1	0	0	0	6310	884	31	1	641	1	GDE1	16	19528399	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	76556	19528399	70826354	828	34893											
ZP2	7783	broad.mit.edu	37	chr16	21221474	21221474	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgccaggactgcttgggAactccactgttatttccctt	10	11	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:21221474A>G	uc002dii.2	-	3	191	c.191T>C	c.(190-192)TTC>TCC	p.F64S	ZP2_uc010bwn.1_Missense_Mutation_p.F103S|ZP2_uc010bwo.2_Missense_Mutation_p.F103S	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	64	Extracellular (Potential).				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(48;0.0573)		ACTGCTTGGGAACTCCACTGT	0.478													G	21221474	A	G	21221474	3	3	37	1	0	0	0	0	1	0	0	0	18213	246	9	3	2114	3	ZP2	16	21221474	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	1693075	21221474	69133279	829	34894											
USP31	57478	broad.mit.edu	37	chr16	23080493	23080493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcaaatggaccagagagcGggggcaggcggtccccttgt	15	10	1	1	rs148943431		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:23080493G>A	uc002dll.2	-	16	2933	c.2933C>T	c.(2932-2934)CCG>CTG	p.P978L	USP31_uc002dlk.2_Missense_Mutation_p.P250L|USP31_uc010vca.1_Missense_Mutation_p.P281L|USP31_uc010bxm.2_Missense_Mutation_p.P266L	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	978	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		ACCAGAGAGCGGGGGCAGGCG	0.522													A	23080493	G	A	23080493	3	1	37	1	0	0	0	0	1	0	0	0	17059	1116	39	1	1129	1	USP31	16	23080493	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1859019	23080493	67274260	830	34895											
COG7	91949	broad.mit.edu	37	chr16	23415109	23415109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggttaagccgagtcagcGctgctcgaggtgcagccagc	15	12	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:23415109G>A	uc002dlo.2	-	13	1897	c.1709C>T	c.(1708-1710)GCG>GTG	p.A570V		NM_153603	NP_705831	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	570					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0				GBM - Glioblastoma multiforme(48;0.0401)		CCGAGTCAGCGCTGCTCGAGG	0.512													A	23415109	G	A	23415109	3	1	37	1	0	0	0	0	1	0	0	0	3663	1087	38	1	623	1	COG7	16	23415109	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	334616	23415109	66939644	831	34896											
PALB2	79728	broad.mit.edu	37	chr16	23646981	23646981	+	Frame_Shift_Del	DEL	T	T	-													gttatctgtagagacagtcaTttttttgccttgtgcctcca							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:23646980_23646980AT>A	uc002dlx.1	-	3	1087	c.887_887AT>T	c.(886-888)atgfs	p.M296fs		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	296	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		AGAGACAGTCATTTTTTTGCC	0.368			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					-	23646981	T	-	23646981	7	5	37	1	0	1	0	1	0	0	0	0	11406	1493	52	0	2714	0	PALB2	16	23646981	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	231872	23646981	66707772	832	34897											
CACNG3	10368	broad.mit.edu	37	chr16	24372735	24372735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgccggagaccccgggcagCgtgactccaaaaaaagttac	11	13	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:24372735C>T	uc002dmf.2	+	4	1699	c.499C>T	c.(499-501)CGT>TGT	p.R167C		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	167					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0				GBM - Glioblastoma multiforme(48;0.0809)		CCCCGGGCAGCGTGACTCCAA	0.443													T	24372735	C	T	24372735	3	4	37	1	0	0	0	0	1	0	0	0	2558	768	27	1	513	1	CACNG3	16	24372735	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	725754	24372735	65982018	833	34898											
KIAA0556	23247	broad.mit.edu	37	chr16	27761019	27761019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaccgctcccaccggggacGcatctccaacacggagctcc	10	19	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:27761019G>A	uc002dow.2	+	16	2762	c.2738G>A	c.(2737-2739)CGC>CAC	p.R913H		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	913										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						CACCGGGGACGCATCTCCAAC	0.647													A	27761019	G	A	27761019	3	1	37	1	0	0	0	0	1	0	0	0	8183	1087	38	1	2800	1	KIAA0556	16	27761019	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3388284	27761019	62593734	834	34899											
KIAA0556	23247	broad.mit.edu	37	chr16	27765529	27765529	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcccatccagttcccctgtCccccaagtcaccacgccaga	5	21	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:27765529C>T	uc002dow.2	+	18	3612	c.3588C>T	c.(3586-3588)GTC>GTT	p.V1196V		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	1196										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						GTTCCCCTGTCCCCCAAGTCA	0.582													T	27765529	C	T	27765529	2	4	37	1	0	0	0	0	0	0	0	1	8183	842	30	4		4	KIAA0556	16	27765529	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	4510	27765529	62589224	835	34900											
GSG1L	146395	broad.mit.edu	37	chr16	27802759	27802759	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgtgcggagctccgggGccaggaatccgccatgtgtg	15	12	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:27802759G>C	uc002doz.2	-	7	1013	c.928C>G	c.(928-930)CCC>GCC	p.P310A	GSG1L_uc010bya.1_Missense_Mutation_p.P259A|GSG1L_uc010bxz.1_Missense_Mutation_p.P173A|GSG1L_uc002doy.2_Missense_Mutation_p.P155A	NM_001109763	NP_001103233	Q6UXU4	GSG1L_HUMAN	GSG1-like isoform 1	310						integral to membrane				ovary(1)	1						GAGCTCCGGGGCCAGGAATCC	0.647													C	27802759	G	C	27802759	3	2	37	1	0	0	0	0	1	0	0	0	6821	1203	42	5	71	5	GSG1L	16	27802759	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	37230	27802759	62551994	836	34901											
ATXN2L	11273	broad.mit.edu	37	chr16	28847350	28847350	+	Frame_Shift_Del	DEL	G	G	-													tgcacccaccccagagtcatGgggggcccccccaaggcgcg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:28847349_28847349TG>T	uc002dqy.3	+	21	3158	c.2991_2991TG>T	c.(2989-2991)catfs	p.H997fs	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002dra.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drb.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drc.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc010vdb.2_Frame_Shift_Del_p.H1003fs|ATXN2L_uc002dre.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drf.3_Frame_Shift_Del_p.H406fs|ATXN2L_uc002drg.3_Frame_Shift_Del_p.H280fs	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	997						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCAGAGTCATGGGGGGCCCC	0.687													-	28847350	G	-	28847350	7	5	37	1	0	1	0	1	0	0	0	0	1212	1348	47	0	3078	0	ATXN2L	16	28847350	Frame_Shift_Del	DEL	G	TCGA-BR-6566-01A-11D-1800-08	1044591	28847350	61507403	837	34902											
TUFM	7284	broad.mit.edu	37	chr16	28856346	28856346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctaccaccaggatgcagcCgtcgaggggtgcagtgcctg	15	12	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:28856346C>T	uc002drh.2	-	4	584	c.445G>A	c.(445-447)GGC>AGC	p.G149S	uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank	NM_003321	NP_003312	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	146						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			ovary(1)	1						AGGATGCAGCCGTCGAGGGGT	0.542													T	28856346	C	T	28856346	3	4	37	1	0	0	0	0	1	0	0	0	16768	652	23	1	950	1	TUFM	16	28856346	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	8996	28856346	61498407	838	34903											
MVP	9961	broad.mit.edu	37	chr16	29853263	29853263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgggcctgagctggtgtcGctgggtcctgaggagcagtt	17	9	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:29853263G>A	uc002dui.2	+	10	1548	c.1464G>A	c.(1462-1464)TCG>TCA	p.S488S	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.1_RNA|MVP_uc002duj.2_Silent_p.S488S|MVP_uc010vea.1_Silent_p.S82S	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	488	MVP 9.				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						AGCTGGTGTCGCTGGGTCCTG	0.672													A	29853263	G	A	29853263	2	1	37	1	0	0	0	0	0	0	0	1	9996	1074	38	1		1	MVP	16	29853263	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	996917	29853263	60501490	839	34904											
SEZ6L2	26470	broad.mit.edu	37	chr16	29891335	29891335	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atactcagggtccgtggtagTgacatttccatgtgccagga	12	9	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:29891335T>C	uc002duq.3	-	9	1663	c.1423A>G	c.(1423-1425)ACT>GCT	p.T475A	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.T405A|SEZ6L2_uc002dur.3_Missense_Mutation_p.T405A|SEZ6L2_uc002dus.3_Missense_Mutation_p.T361A|SEZ6L2_uc010vec.1_Missense_Mutation_p.T475A|SEZ6L2_uc010ved.1_Missense_Mutation_p.T431A	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	475	Sushi 2.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						TCCGTGGTAGTGACATTTCCA	0.587													C	29891335	T	C	29891335	3	2	37	1	0	0	0	0	1	0	0	0	14144	1696	59	3	1388	3	SEZ6L2	16	29891335	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	38072	29891335	60463418	840	34905											
TAOK2	9344	broad.mit.edu	37	chr16	30002499	30002499	+	Frame_Shift_Del	DEL	G	G	-													ggcttctccagcatggctctGgggggcatcccggctgaagc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:30002498_30002498TG>T	uc002dvc.2	+	18	3576	c.2759_2759TG>T	c.(2758-2760)ctgfs	p.L920fs	BOLA2_uc010bzb.1_Intron	NM_004783	NP_004774	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 2, mRNA.	809					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AGCATGGCTCTGGGGGGCATC	0.682													-	30002499	G	-	30002499	7	5	37	1	0	1	0	1	0	0	0	0	15545	1335	47	0	4306	0	TAOK2	16	30002499	Frame_Shift_Del	DEL	G	TCGA-BR-6566-01A-11D-1800-08	111164	30002499	60352254	841	34906											
SRCAP	10847	broad.mit.edu	37	chr16	30735442	30735442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtcagcaccaaatccagCtccagctcaggcttcccttc	6	18	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:30735442C>T	uc002dze.1	+	25	5082	c.4697C>T	c.(4696-4698)GCT>GTT	p.A1566V	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.A1361V|SRCAP_uc010bzz.1_Missense_Mutation_p.A1136V	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1566	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CCAAATCCAGCTCCAGCTCAG	0.592													T	30735442	C	T	30735442	3	4	37	1	0	0	0	0	1	0	0	0	15134	797	28	2	4787	2	SRCAP	16	30735442	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	732943	30735442	59619311	842	34907											
PHKG2	5261	broad.mit.edu	37	chr16	30768017	30768017	+	Frame_Shift_Del	DEL	C	C	-													cagccaaccctggaacctcaCcccccgccagcggttccggg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:30768016_30768016AC>A	uc002dzk.2	+	8	1117	c.907_907AC>A	c.(907-909)accfs	p.T303fs	PHKG2_uc021tgo.1_Frame_Shift_Del_p.T303fs	NM_000294	NP_000285	P15735	PHKG2_HUMAN	Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA.	303					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			CTGGAACCTCACCCCCCGCCA	0.627													-	30768017	C	-	30768017	7	5	37	1	0	1	0	1	0	0	0	0	11847	507	18	0	938	0	PHKG2	16	30768017	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	32575	30768017	59586736	843	34908											
C16orf93	90835	broad.mit.edu	37	chr16	30768894	30768894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctcgctggccttgagcCgctcctccaccagcccctgg	9	19	0	1	rs138413324	by1000genomes	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:30768894C>T	uc002dzm.2	-	9	1230	c.899G>A	c.(898-900)CGG>CAG	p.R300Q	C16orf93_uc002dzn.2_Missense_Mutation_p.R365Q|C16orf93_uc002dzo.2_Missense_Mutation_p.R263Q	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN	hypothetical protein LOC90835	300	Potential.										0						GGCCTTGAGCCGCTCCTCCAC	0.602													T	30768894	C	T	30768894	3	4	37	1	0	0	0	0	1	0	0	0	1846	652	23	1	100	1	C16orf93	16	30768894	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	877	30768894	59585859	844	34909											
MYST1	84148	broad.mit.edu	37	chr16	31131792	31131792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgagcgcaagatcactcGcaaccaaaagcgcaagcatg	10	13	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:31131792G>A	uc002eay.2	+	3	437	c.419G>A	c.(418-420)CGC>CAC	p.R140H	MYST1_uc002eax.2_Missense_Mutation_p.R140H	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	MYST histone acetyltransferase 1 isoform 1	140					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding			ovary(1)	1						AAGATCACTCGCAACCAAAAG	0.572													A	31131792	G	A	31131792	3	1	37	1	0	0	0	0	1	0	0	0	10102	1087	38	1	429	1	MYST1	16	31131792	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	362898	31131792	59222961	845	34910											
PRSS36	146547	broad.mit.edu	37	chr16	31152917	31152917	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccactggagcagcctccaGccgcaggccacaggctaggg	13	17	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:31152917G>A	uc002ebd.2	-	12	1833	c.1774C>T	c.(1774-1776)CTG>TTG	p.L592L	PRSS36_uc010vff.1_Silent_p.L367L|PRSS36_uc010vfg.1_Silent_p.L587L|PRSS36_uc010vfh.1_Silent_p.L592L	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	protease, serine, 36 precursor	592	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			ovary(1)	1						GCAGCCTCCAGCCGCAGGCCA	0.687													A	31152917	G	A	31152917	2	1	37	1	0	0	0	0	0	0	0	1	12625	962	34	2		2	PRSS36	16	31152917	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	21125	31152917	59201836	846	34911											
PRSS36	146547	broad.mit.edu	37	chr16	31154777	31154777	+	Frame_Shift_Del	DEL	G	G	-													agggccaggcccctggccgcGgggccttcccgcactctgag							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:31154776_31154776CG>C	uc002ebd.3	-	7	1046	c.987_987CG>G	c.(985-987)ccgfs	p.P329fs	PRSS36_uc010vff.2_Frame_Shift_Del_p.P104fs|PRSS36_uc010vfg.2_Frame_Shift_Del_p.P329fs|PRSS36_uc010vfh.2_Frame_Shift_Del_p.P329fs	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	329	Peptidase S1 2.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CCCCTGGCCGCGGGGCCTTCC	0.662													-	31154777	G	-	31154777	7	5	37	1	0	1	0	1	0	0	0	0	12625	1116	39	0	1613	0	PRSS36	16	31154777	Frame_Shift_Del	DEL	G	TCGA-BR-6566-01A-11D-1800-08	1860	31154777	59199976	847	34912											
ITGAX	3687	broad.mit.edu	37	chr16	31383749	31383749	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgcgtctgaacttcacGctggtgggcaagcccctcct	10	15	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:31383749G>A	uc002ebu.1	+	18	2278	c.2211G>A	c.(2209-2211)ACG>ACA	p.T737T	ITGAX_uc002ebt.2_Silent_p.T737T	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	737	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGAACTTCACGCTGGTGGGCA	0.637													A	31383749	G	A	31383749	2	1	37	1	0	0	0	0	0	0	0	1	7889	1074	38	1		1	ITGAX	16	31383749	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	228972	31383749	58971004	848	34913											
ITGAD	3681	broad.mit.edu	37	chr16	31426276	31426276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagaacctgcgtcctgtGctggccgtgggctcacaaga	12	15	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:31426276G>A	uc002ebv.1	+	18	2296	c.2247G>A	c.(2245-2247)GTG>GTA	p.V749V	ITGAD_uc010cap.1_Silent_p.V750V	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	749	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						TGCGTCCTGTGCTGGCCGTGG	0.537													A	31426276	G	A	31426276	2	1	37	1	0	0	0	0	0	0	0	1	7884	1306	46	2		2	ITGAD	16	31426276	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	42527	31426276	58928477	849	34914											
TOX3	27324	broad.mit.edu	37	chr16	52473795	52473797	+	In_Frame_Del	DEL	AGA	AGA	-													gttgagacagtggagtgttgAgaaggagagaggatgttaga							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:52473794_52473796GAGA>G	uc002egw.2	-	6	1243_1245	c.1072_1074TCTC>C	c.(1072-1074)ctc>C	p.L358del	TOX3_uc010vgt.1_In_Frame_Del_p.L353del	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA.	358					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GTGGAGTGTTGAGAAGGAGAGAG	0.537													-	52473797	AGA	-	52473795	7	5	37	1	0	1	0	1	0	0	0	0	16376	304	11	0	661	0	TOX3	16	52473795	In_Frame_Del	DEL	AGA	TCGA-BR-6566-01A-11D-1800-08	21047519	52473795	37880958	850	34915											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53720489	53720489	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtgactgaataacgttttctCtgaaataaagagcctctgta	8	7	2	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:53720489C>G	uc002ehp.2	-	6	697	c.633_splice	c.e6-1	p.L211_splice	RPGRIP1L_uc002eho.3_Splice_Site_p.L211_splice|RPGRIP1L_uc010vgy.1_Splice_Site_p.L211_splice|RPGRIP1L_uc010cbx.2_Splice_Site_p.L211_splice|RPGRIP1L_uc010vgz.1_Splice_Site_p.L211_splice|RPGRIP1L_uc002ehq.1_Splice_Site_p.L211_splice	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a						negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				AACGTTTTCTCTGAAATAAAG	0.363													G	53720489	C	G	53720489	5	3	37	1	0	0	0	0	0	0	1	0	13550	927	32	5	3403	5	RPGRIP1L	16	53720489	Splice_Site	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1246694	53720489	36634264	851	34916											
BBS2	583	broad.mit.edu	37	chr16	56536710	56536710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctccccagttcggtcacttCgagcatcaacctacaaataa	5	15	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:56536710C>T	uc002ejd.2	-	8	1049	c.815G>A	c.(814-816)CGA>CAA	p.R272Q	BBS2_uc010ccg.2_Missense_Mutation_p.R272Q	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2 protein	272					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			ovary(1)	1						TCGGTCACTTCGAGCATCAAC	0.363									Bardet-Biedl_syndrome				T	56536710	C	T	56536710	3	4	37	1	0	0	0	0	1	0	0	0	1338	884	31	1	1390	1	BBS2	16	56536710	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2816221	56536710	33818043	852	34917											
CCDC102A	92922	broad.mit.edu	37	chr16	57551998	57551998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgttcttctcgaagagCgcggcctggctggccctcag	12	14	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:57551998C>T	uc002elw.2	-	6	1443	c.1230G>A	c.(1228-1230)GCG>GCA	p.A410A		NM_033212	NP_149989	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	410										ovary(1)	1						TCTCGAAGAGCGCGGCCTGGC	0.682													T	57551998	C	T	57551998	2	4	37	1	0	0	0	0	0	0	0	1	2736	755	27	1		1	CCDC102A	16	57551998	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1015288	57551998	32802755	853	34918											
GPR97	222487	broad.mit.edu	37	chr16	57713135	57713135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcggcgtgttgaacaatcGcctggtgggtttgagtgtgg	17	7	0	2	rs149201757		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:57713135G>A	uc002emh.2	+	5	642	c.539G>A	c.(538-540)CGC>CAC	p.R180H	GPR97_uc010vhv.1_Missense_Mutation_p.R60H|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_5'Flank	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97 precursor	180	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1						TTGAACAATCGCCTGGTGGGT	0.637													A	57713135	G	A	57713135	3	1	37	1	0	0	0	0	1	0	0	0	6720	1087	38	1	557	1	GPR97	16	57713135	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	161137	57713135	32641618	854	34919											
CDH16	1014	broad.mit.edu	37	chr16	66947519	66947519	+	Splice_Site	DEL	G	G	-													acccccactccagtgtacctGggggggacaccccgggccaa							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:66947518_66947518TG>T	uc002eql.3	-	8	975	c.781_splice	c.e8-1	p.V261_splice	CDH16_uc010cdy.3_Splice_Site_p.V261_splice|CDH16_uc021tjx.1_Splice_Site_p.V261_splice|CDH16_uc002eqm.3_Splice_Site_p.V164_splice	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	261	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCAGTGTACCTGGGGGGGACA	0.592													-	66947519	G	-	66947519	8	5	37	1	0	1	0	1	0	0	1	0	3101	1363	47	0		0	CDH16	16	66947519	Splice_Site	DEL	G	TCGA-BR-6566-01A-11D-1800-08	9234384	66947519	23407234	855	34920											
EXOC3L	283849	broad.mit.edu	37	chr16	67222785	67222785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccctgcaccacctcaatgGcctgggccagctgccacaca	8	18	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:67222785G>A	uc002erx.1	-	4	507	c.266C>T	c.(265-267)GCC>GTC	p.A89V	EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Intron|EXOC3L_uc002ery.1_Intron|EXOC3L_uc010vje.1_Intron	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	89	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		CACCTCAATGGCCTGGGCCAG	0.642													A	67222785	G	A	67222785	3	1	37	1	0	0	0	0	1	0	0	0	5304	1203	42	2	2018	2	EXOC3L	16	67222785	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	275266	67222785	23131968	856	34921											
ELMO3	79767	broad.mit.edu	37	chr16	67235910	67235910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacaggacctggagcgcGtgccccccggtctgctggcc	14	17	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:67235910G>A	uc002esa.2	+	12	1283	c.1240G>A	c.(1240-1242)GTG>ATG	p.V414M	ELMO3_uc002esb.2_Missense_Mutation_p.V397M|ELMO3_uc002esc.2_Missense_Mutation_p.V248M	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	361	ELMO.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		CCTGGAGCGCGTGCCCCCCGG	0.667													A	67235910	G	A	67235910	3	1	37	1	0	0	0	0	1	0	0	0	5067	1145	40	1	1286	1	ELMO3	16	67235910	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	13125	67235910	23118843	857	34922											
ACD	65057	broad.mit.edu	37	chr16	67692248	67692248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcggatgacatgtggcCgggtaaggccggggttcctg	16	10	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:67692248C>T	uc002etq.3	-	10	1442	c.1105G>A	c.(1105-1107)GGC>AGC	p.G369S	ACD_uc002etp.3_Missense_Mutation_p.G366S|ACD_uc002etr.3_Missense_Mutation_p.G366S|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	369	Ser-rich.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GACATGTGGCCGGGTAAGGCC	0.632													T	67692248	C	T	67692248	3	4	37	1	0	0	0	0	1	0	0	0	135	652	23	1	541	1	ACD	16	67692248	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	456338	67692248	22662505	858	34923											
CDH1	999	broad.mit.edu	37	chr16	68844099	68844099	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctcacttggttctttcaGctcttctctcacgctgtgtc	6	15	6	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:68844099G>A	uc002ewg.1	+	6	812	c.688_splice	c.e6-1	p.L230_splice	CDH1_uc010vlj.1_Splice_Site|CDH1_uc010cfg.1_Splice_Site_p.L230_splice	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein						adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(1)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GGTTCTTTCAGCTCTTCTCTC	0.527			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				A	68844099	G	A	68844099	5	1	37	1	0	0	0	0	0	0	1	0	3095	985	34	2	709	2	CDH1	16	68844099	Splice_Site	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1151851	68844099	21510654	859	34924											
DDX19B	11269	broad.mit.edu	37	chr16	70351442	70351442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctatgccatgggtttcaatCgtccatccaagatacaagag	8	10	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:70351442C>T	uc002eyo.2	+	5	469	c.340C>T	c.(340-342)CGT>TGT	p.R114C	DDX19B_uc010vly.1_Missense_Mutation_p.R114C|DDX19A_uc002eys.2_Intron|DDX19B_uc010vlv.1_Intron|DDX19B_uc010vlw.1_Missense_Mutation_p.R5C|DDX19B_uc002eyp.2_Intron|DDX19B_uc002eyq.2_Missense_Mutation_p.R5C|DDX19B_uc002eyr.2_Intron|DDX19B_uc010vlx.1_Intron|uc002eyt.2_Intron	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform	114	Q motif.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			kidney(1)	1		Ovarian(137;0.0694)				GGGTTTCAATCGTCCATCCAA	0.398													T	70351442	C	T	70351442	3	4	37	1	0	0	0	0	1	0	0	0	4347	884	31	1	358	1	DDX19B	16	70351442	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1507343	70351442	20003311	860	34925											
DDX19A	55308	broad.mit.edu	37	chr16	70384460	70384460	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttttatttctattcagAtgaccaatttgcagatcaag	5	7	4	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:70384460A>C	uc002eyv.2	+	2	129	c.58A>C	c.(58-60)ATG>CTG	p.M20L	DDX19B_uc010vly.1_Intron|DDX19A_uc002eys.2_Intron|DDX19A_uc010cfq.1_5'UTR|DDX19A_uc010cfr.2_5'UTR|DDX19A_uc010cfs.2_5'UTR|DDX19A_uc010vlz.1_Missense_Mutation_p.M20L	NM_018332	NP_060802	Q9NUU7	DD19A_HUMAN	DDX19-like protein	20					mRNA transport|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding				0		Ovarian(137;0.221)				TTCTATTCAGATGACCAATTT	0.378													C	70384460	A	C	70384460	3	2	37	1	0	0	0	0	1	0	0	0	4346	347	12	5	64	5	DDX19A	16	70384460	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	33018	70384460	19970293	861	34926											
COG4	25839	broad.mit.edu	37	chr16	70524291	70524291	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacttccacgttgttcagaGtcacctgggagatgaggaag	13	8	2	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:70524291G>T	uc002ezc.2	-	13	1663	c.1652C>A	c.(1651-1653)ACT>AAT	p.T551N	COG4_uc002eza.2_5'UTR|COG4_uc002ezb.2_Intron|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Intron|COG4_uc002eze.2_Missense_Mutation_p.T245N	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	547					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				GTTGTTCAGAGTCACCTGGGA	0.522													T	70524291	G	T	70524291	3	4	37	1	0	0	0	0	1	0	0	0	3660	1029	36	5	745	5	COG4	16	70524291	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	139831	70524291	19830462	862	34927											
HYDIN	54768	broad.mit.edu	37	chr16	71218785	71218785	+	Frame_Shift_Del	DEL	C	C	-													taccttctgatgtgttgtttCccccatatctaagagttcga							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:71218784_71218784TC>T	uc002ezr.3	-	2	396	c.245_245GA>A	c.(244-246)gaafs	p.E82fs	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Frame_Shift_Del_p.E82fs|HYDIN_uc010vmc.2_Frame_Shift_Del_p.E99fs|HYDIN_uc010vmd.2_Frame_Shift_Del_p.E109fs|HYDIN_uc002ezw.4_Frame_Shift_Del_p.E99fs	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	82								p.E82K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTGTTGTTTCCCCCATATC	0.443													-	71218785	C	-	71218785	7	5	37	1	0	1	0	1	0	0	0	0	7467	864	30	0	15466	0	HYDIN	16	71218785	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	694494	71218785	19135968	863	34928											
PHLPP2	23035	broad.mit.edu	37	chr16	71683682	71683682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattcaaataaactaccatcGcccctacattgtcctgacag	4	13	1	1	rs148247641	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:71683682G>A	uc002fax.2	-	18	3089	c.3083C>T	c.(3082-3084)GCG>GTG	p.A1028V	PHLPP2_uc002fav.2_Intron|PHLPP2_uc010cgf.2_Missense_Mutation_p.A961V	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	1028	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						AACTACCATCGCCCCTACATT	0.493													A	71683682	G	A	71683682	3	1	37	1	0	0	0	0	1	0	0	0	11855	1087	38	1	892	1	PHLPP2	16	71683682	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	464897	71683682	18671071	864	34929											
DHX38	9785	broad.mit.edu	37	chr16	72138492	72138492	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatcttccacatccctggCcgtaccttccctgttgacat	5	18	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:72138492C>T	uc002fcb.2	+	15	2473	c.2118C>T	c.(2116-2118)GGC>GGT	p.G706G	DHX38_uc010vmp.1_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	706					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)				ACATCCCTGGCCGTACCTTCC	0.547													T	72138492	C	T	72138492	2	4	37	1	0	0	0	0	0	0	0	1	4511	726	26	2		2	DHX38	16	72138492	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	454810	72138492	18216261	865	34930											
ZFHX3	463	broad.mit.edu	37	chr16	72991559	72991559	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtaacatcatgttatgcAtgtgcttctcactggtcatg	9	9	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:72991559A>G	uc002fck.2	-	2	3159	c.2486T>C	c.(2485-2487)ATG>ACG	p.M829T	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	829					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				CATGTTATGCATGTGCTTCTC	0.562													G	72991559	A	G	72991559	3	3	37	1	0	0	0	0	1	0	0	0	17631	217	8	3	8661	3	ZFHX3	16	72991559	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	853067	72991559	17363194	866	34931											
ZFHX3	463	broad.mit.edu	37	chr16	72993336	72993336	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccttgttgcttttgtgtcGcacgtcaaacacgcggaagc	10	11	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:72993336G>A	uc002fck.2	-	2	1382	c.709C>T	c.(709-711)CGA>TGA	p.R237*	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	237					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				CTTTTGTGTCGCACGTCAAAC	0.552													A	72993336	G	A	72993336	4	1	37	1	0	0	0	0	0	1	0	0	17631	1095	38	1	10438	1	ZFHX3	16	72993336	Nonsense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1777	72993336	17361417	867	34932											
ADAMTS18	170692	broad.mit.edu	37	chr16	77387780	77387780	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actagacaccccgcctgaggTgtgctgtaatgacaatacat	9	11	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:77387780T>G	uc002ffc.3	-	10	1883	c.1464A>C	c.(1462-1464)ACA>ACC	p.T488T	ADAMTS18_uc010chc.1_Silent_p.T76T|ADAMTS18_uc002ffe.1_Silent_p.T184T	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	488	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						CCGCCTGAGGTGTGCTGTAAT	0.408													G	77387780	T	G	77387780	2	3	37	1	0	0	0	0	0	0	0	1	263	1683	59	5		5	ADAMTS18	16	77387780	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	4394444	77387780	12966973	868	34933											
GAN	8139	broad.mit.edu	37	chr16	81398592	81398592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcagatcggctgctatgCagctatgaaaaagaaaatct	8	8	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:81398592C>T	uc002fgo.2	+	8	1398	c.1250C>T	c.(1249-1251)GCA>GTA	p.A417V		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	gigaxonin	417	Kelch 3.				cell death	cytoplasm|neurofilament	protein binding			ovary(2)	2		Colorectal(91;0.153)				GGCTGCTATGCAGCTATGAAA	0.478													T	81398592	C	T	81398592	3	4	37	1	0	0	0	0	1	0	0	0	6232	710	25	2	1280	2	GAN	16	81398592	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	4010812	81398592	8956161	869	34934											
ZC3H18	124245	broad.mit.edu	37	chr16	88675419	88675419	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggacagtatgagaatttcaGggtgcagtatacagaaacag	12	6	1	2	rs116570026	by1000genomes	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:88675419G>T	uc002fky.2	+	7	1366	c.1166G>T	c.(1165-1167)AGG>ATG	p.R389M	ZC3H18_uc010voy.1_Missense_Mutation_p.R272M|ZC3H18_uc010voz.1_Missense_Mutation_p.R413M|ZC3H18_uc010chw.2_5'Flank	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	389						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GAGAATTTCAGGGTGCAGTAT	0.408													T	88675419	G	T	88675419	3	4	37	1	0	0	0	0	1	0	0	0	17565	1000	35	5	1188	5	ZC3H18	16	88675419	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	7276827	88675419	1679334	870	34935											
ANKRD11	29123	broad.mit.edu	37	chr16	89349977	89349977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggcccttcccaaagtcGccgtcggacttgtccttgaa	9	15	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:89349977G>A	uc002fmx.1	-	9	3434	c.2973C>T	c.(2971-2973)GGC>GGT	p.G991G	ANKRD11_uc002fmy.1_Silent_p.G991G|ANKRD11_uc002fnc.1_Silent_p.G991G|ANKRD11_uc002fnb.1_Silent_p.G948G	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	991	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCCCAAAGTCGCCGTCGGACT	0.627													A	89349977	G	A	89349977	2	1	37	1	0	0	0	0	0	0	0	1	639	1074	38	1		1	ANKRD11	16	89349977	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	674558	89349977	1004776	871	34936											
PRPF8	10594	broad.mit.edu	37	chr17	1576732	1576732	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaggcaggatgcggcactcGaagccacacatgttgaacag	12	10	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:1576732G>A	uc002fte.2	-	23	3690	c.3576C>T	c.(3574-3576)TTC>TTT	p.F1192F		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1192						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGCGGCACTCGAAGCCACACA	0.572													A	1576732	G	A	1576732	2	1	37	1	0	0	0	0	0	0	0	1	12575	1049	37	1		1	PRPF8	17	1576732	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08		1576732	79618478	872	34937											
RTN4RL1	146760	broad.mit.edu	37	chr17	1840671	1840671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagaggtactgcaggctgtGcaggccgccaaagacgccgg	16	11	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:1840671G>A	uc002ftp.2	-	2	464	c.445C>T	c.(445-447)CAC>TAC	p.H149Y		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1 precursor	149					axon regeneration	anchored to plasma membrane	receptor activity				0						TGCAGGCTGTGCAGGCCGCCA	0.622													A	1840671	G	A	1840671	3	1	37	1	0	0	0	0	1	0	0	0	13731	1319	46	2	884	2	RTN4RL1	17	1840671	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	263939	1840671	79354539	873	34938											
HIC1	3090	broad.mit.edu	37	chr17	1960262	1960262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggctgacggcgcagaggCggctgcggccgcggccgtgg	20	14	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:1960262C>T	uc010cjy.2	+	2	335	c.335C>T	c.(334-336)GCG>GTG	p.A112V	HIC1_uc002fty.3_Missense_Mutation_p.A93V|HIC1_uc002ftz.3_Missense_Mutation_p.A93V	NM_001098202	NP_001091672	Q14526	HIC1_HUMAN	hypermethylated in cancer 1 isoform 2	112	Poly-Ala.				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1				READ - Rectum adenocarcinoma(1115;0.236)		GGCGCAGAGGCGGCTGCGGCC	0.726													T	1960262	C	T	1960262	3	4	37	1	0	0	0	0	1	0	0	0	7101	768	27	1	341	1	HIC1	17	1960262	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	119591	1960262	79234948	874	34939											
HIC1	3090	broad.mit.edu	37	chr17	1961289	1961289	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctgagcagctgaacgcGcacgtggaggctcacgtgga	15	11	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:1961289G>A	uc010cjy.2	+	2	1362	c.1362G>A	c.(1360-1362)GCG>GCA	p.A454A	HIC1_uc002fty.3_Silent_p.A435A|HIC1_uc002ftz.3_Silent_p.A435A	NM_001098202	NP_001091672	Q14526	HIC1_HUMAN	hypermethylated in cancer 1 isoform 2	454	C2H2-type 1.				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1				READ - Rectum adenocarcinoma(1115;0.236)		AGCTGAACGCGCACGTGGAGG	0.692													A	1961289	G	A	1961289	2	1	37	1	0	0	0	0	0	0	0	1	7101	1074	38	1		1	HIC1	17	1961289	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1027	1961289	79233921	875	34940											
SGSM2	9905	broad.mit.edu	37	chr17	2282757	2282757	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	catcacgatgcccaggagatCctgcggattgcccgggacct	12	14	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:2282757C>G	uc002fun.3	+	23	3139	c.2964C>G	c.(2962-2964)ATC>ATG	p.I988M	SGSM2_uc002fum.3_Missense_Mutation_p.I1033M|SGSM2_uc010vqw.1_Intron|SGSM2_uc002fup.1_3'UTR|SGSM2_uc002fuq.2_Missense_Mutation_p.I150M	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	988						intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CCCAGGAGATCCTGCGGATTG	0.617													G	2282757	C	G	2282757	3	3	37	1	0	0	0	0	1	0	0	0	14223	845	30	5	3193	5	SGSM2	17	2282757	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	321468	2282757	78912453	876	34941											
GSG2	83903	broad.mit.edu	37	chr17	3629365	3629365	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggatgaggacctgtttacCggtgacggtgactaccagtt	13	8	0	3	rs146730005		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:3629365C>T	uc002fwp.2	+	1	2169	c.2136C>T	c.(2134-2136)ACC>ACT	p.T712T	ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	haspin	712	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity				0						ACCTGTTTACCGGTGACGGTG	0.488													T	3629365	C	T	3629365	2	4	37	1	0	0	0	0	0	0	0	1	6822	639	23	1		1	GSG2	17	3629365	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1346608	3629365	77565845	877	34942											
ZZEF1	23140	broad.mit.edu	37	chr17	3980228	3980228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actatggtttttccactgtaCtgtgagaaaagggattccaa	9	7	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:3980228C>T	uc002fxe.2	-	20	3109	c.3045G>A	c.(3043-3045)CAG>CAA	p.Q1015Q	ZZEF1_uc002fxk.1_Silent_p.Q1016Q	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1015							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TTCCACTGTACTGTGAGAAAA	0.363													T	3980228	C	T	3980228	2	4	37	1	0	0	0	0	0	0	0	1	18252	564	20	4		4	ZZEF1	17	3980228	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	350863	3980228	77214982	878	34943											
ANKFY1	51479	broad.mit.edu	37	chr17	4139185	4139185	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacctttatcttcagatcGctgatgaagaaaaagatcca	6	10	2	5			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:4139185G>A	uc002fxq.1	-	3	242	c.204C>T	c.(202-204)AGC>AGT	p.S68S	ANKFY1_uc002fxn.2_Silent_p.S110S|ANKFY1_uc002fxo.2_Silent_p.S68S|ANKFY1_uc002fxp.2_Silent_p.S68S|ANKFY1_uc010ckp.2_Intron|ANKFY1_uc002fxr.2_Silent_p.S68S|ANKFY1_uc010vrz.1_Silent_p.S68S	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	68	BTB.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						TCTTCAGATCGCTGATGAAGA	0.423													A	4139185	G	A	4139185	2	1	37	1	0	0	0	0	0	0	0	1	626	1101	38	1		1	ANKFY1	17	4139185	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	158957	4139185	77056025	879	34944											
RNF167	26001	broad.mit.edu	37	chr17	4846555	4846555	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagggattgtgggactgctGgttttggccatgggagcagt	17	6	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:4846555G>T	uc002fzq.2	+	8	968	c.552G>T	c.(550-552)CTG>CTT	p.L184L	RNF167_uc002fzr.2_Silent_p.L184L|RNF167_uc002fzs.2_Silent_p.L184L|RNF167_uc002fzt.2_Silent_p.L184L|RNF167_uc002fzu.2_Silent_p.L184L|RNF167_uc002fzv.2_Silent_p.L149L|RNF167_uc002fzx.2_Silent_p.L149L|RNF167_uc002fzy.2_5'Flank	NM_015528	NP_056343	Q9H6Y7	RN167_HUMAN	ring finger protein 167 precursor	184	Helical; (Potential).				negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						TGGGACTGCTGGTTTTGGCCA	0.547													T	4846555	G	T	4846555	2	4	37	1	0	0	0	0	0	0	0	1	13458	1335	47	5		5	RNF167	17	4846555	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	707370	4846555	76348655	880	34945											
CAMTA2	23125	broad.mit.edu	37	chr17	4876222	4876222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagtcgggaatgctcagtGcctgtcggttccaacggaaa	14	9	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:4876222G>A	uc002gah.1	-	15	2453	c.2345C>T	c.(2344-2346)GCA>GTA	p.A782V	CAMTA2_uc010cku.1_Missense_Mutation_p.A805V|CAMTA2_uc002gag.1_Missense_Mutation_p.A781V|CAMTA2_uc002gai.1_Missense_Mutation_p.A784V|CAMTA2_uc010ckv.1_Missense_Mutation_p.A429V	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	782	ANK 2.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						AATGCTCAGTGCCTGTCGGTT	0.622													A	4876222	G	A	4876222	3	1	37	1	0	0	0	0	1	0	0	0	2614	1319	46	2	1349	2	CAMTA2	17	4876222	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	29667	4876222	76318988	881	34946											
NLRP1	22861	broad.mit.edu	37	chr17	5437297	5437297	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccctcagtaggggtcatcAcacttggtttcctggacaaa	11	11	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:5437297A>G	uc002gci.2	-	9	3527	c.2972T>C	c.(2971-2973)GTG>GCG	p.V991A	NLRP1_uc002gcg.1_Missense_Mutation_p.V991A|NLRP1_uc002gck.2_Missense_Mutation_p.V991A|NLRP1_uc002gcj.2_Missense_Mutation_p.V961A|NLRP1_uc002gcl.2_Missense_Mutation_p.V961A|NLRP1_uc002gch.3_Missense_Mutation_p.V991A|NLRP1_uc010clh.2_Missense_Mutation_p.V991A	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	991					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				AGGGGTCATCACACTTGGTTT	0.498													G	5437297	A	G	5437297	3	3	37	1	0	0	0	0	1	0	0	0	10471	159	6	3	1560	3	NLRP1	17	5437297	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	561075	5437297	75757913	882	34947											
XAF1	54739	broad.mit.edu	37	chr17	6663872	6663872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcatgcaccgcatgctcGcccagcacagagatgtctgt	9	14	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:6663872G>A	uc002gdn.2	+	4	615	c.373G>A	c.(373-375)GCC>ACC	p.A125T	XAF1_uc010clr.1_Missense_Mutation_p.A125T|XAF1_uc002gdm.1_Missense_Mutation_p.A65T|XAF1_uc002gdo.2_Missense_Mutation_p.A106T|XAF1_uc002gdp.2_Silent_p.S102S|XAF1_uc002gdq.2_Intron|XAF1_uc002gdr.2_Silent_p.S83S	NM_017523	NP_059993	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1 isoform 1	125					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding				0						CCGCATGCTCGCCCAGCACAG	0.592													A	6663872	G	A	6663872	3	1	37	1	0	0	0	0	1	0	0	0	17416	1087	38	1	387	1	XAF1	17	6663872	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1226575	6663872	74531338	883	34948											
SLC16A11	162515	broad.mit.edu	37	chr17	6945994	6945994	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggccccgttgccggtgagCgccagccccaccgccaagac	13	18	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:6945994C>T	uc002gei.1	-	3	845	c.507G>A	c.(505-507)GCG>GCA	p.A169A		NM_153357	NP_699188	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	169	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(1)	1						TGCCGGTGAGCGCCAGCCCCA	0.682													T	6945994	C	T	6945994	2	4	37	1	0	0	0	0	0	0	0	1	14404	755	27	1		1	SLC16A11	17	6945994	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	282122	6945994	74249216	884	34949											
SLC2A4	6517	broad.mit.edu	37	chr17	7186847	7186847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcaggggcctgagggacCcagctccatccctccaggca	14	15	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:7186847C>T	uc002gfp.2	+	3	406	c.206C>T	c.(205-207)CCC>CTC	p.P69L	SLC2A4_uc002gfo.2_Missense_Mutation_p.P69L|SLC2A4_uc010cmd.2_RNA	NM_001042	NP_001033	P14672	GTR4_HUMAN	glucose transporter 4	69	Extracellular (Potential).				carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding				0						CCTGAGGGACCCAGCTCCATC	0.602													T	7186847	C	T	7186847	3	4	37	1	0	0	0	0	1	0	0	0	14546	623	22	4	216	4	SLC2A4	17	7186847	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	240853	7186847	74008363	885	34950											
NEURL4	84461	broad.mit.edu	37	chr17	7221114	7221114	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcccatatgtacctgaggtTgaacctgcaccagccaaagg	10	12	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:7221114T>C	uc002gga.1	-	26	4205	c.4198A>G	c.(4198-4200)AAC>GAC	p.N1400D	GPS2_uc002gfv.1_5'Flank|GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_5'UTR|NEURL4_uc002ggb.1_Missense_Mutation_p.N1398D	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	1400							protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						TACCTGAGGTTGAACCTGCAC	0.567													C	7221114	T	C	7221114	3	2	37	1	0	0	0	0	1	0	0	0	10347	1812	63	3	506	3	NEURL4	17	7221114	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	34267	7221114	73974096	886	34951											
KCTD11	147040	broad.mit.edu	37	chr17	7256534	7256534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacagctgccctgctccaCgcagatgtagatgtcagccc	9	17	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:7256534C>T	uc002gge.3	+	1	1327	c.273C>T	c.(271-273)CAC>CAT	p.H91H	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	potassium channel tetramerisation domain	91					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Prostate(122;0.157)				CCCTGCTCCACGCAGATGTAG	0.662													T	7256534	C	T	7256534	2	4	37	1	0	0	0	0	0	0	0	1	8098	535	19	1		1	KCTD11	17	7256534	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	35420	7256534	73938676	887	34952											
ZBTB4	57659	broad.mit.edu	37	chr17	7366640	7366640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggcccttggcctcctccGtggtggtggccatggctggc	15	15	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:7366640G>A	uc002ghc.3	-	4	1911	c.1661C>T	c.(1660-1662)ACG>ATG	p.T554M	ZBTB4_uc002ghd.3_Missense_Mutation_p.T554M	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GGCCTCCTCCGTGGTGGTGGC	0.682													A	7366640	G	A	7366640	3	1	37	1	0	0	0	0	1	0	0	0	17538	1145	40	1	1384	1	ZBTB4	17	7366640	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	110106	7366640	73828570	888	34953											
ZBTB4	57659	broad.mit.edu	37	chr17	7369845	7369845	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaagaagaggaagaagaCgaggaagaggaggaggagga	21	1	0	5	rs145401608		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:7369845C>T	uc002ghc.3	-	3	526	c.276G>A	c.(274-276)TCG>TCA	p.S92S	ZBTB4_uc002ghd.3_Silent_p.S92S	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	92	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		aggaagaagacgaggaagagg	0.418													T	7369845	C	T	7369845	2	4	37	1	0	0	0	0	0	0	0	1	17538	523	19	1		1	ZBTB4	17	7369845	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3205	7369845	73825365	889	34954											
TNFSF12-TNFSF13	407977	broad.mit.edu	37	chr17	7463187	7463187	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactctgtcctgcacctggTtcccattaacgccacctcca	6	18	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:7463187T>C	uc002ghi.1	+	8	657	c.602T>C	c.(601-603)GTT>GCT	p.V201A	SENP3_uc002ghm.2_5'Flank|TNFSF13_uc002ghj.2_Missense_Mutation_p.V121A|TNFSF13_uc002ghk.2_Missense_Mutation_p.V121A|TNFSF13_uc002ghl.2_Intron|TNFSF13_uc010cmk.2_Missense_Mutation_p.V94A|TNFSF13_uc010vua.1_Missense_Mutation_p.V93A	NM_172089	NP_742086	Q8IZK7	Q8IZK7_HUMAN	TNFSF12-TNFSF13 protein	201					immune response	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding				0		Prostate(122;0.157)				CTGCACCTGGTTCCCATTAAC	0.567											OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	7463187	T	C	7463187	3	2	37	1	0	0	0	0	1	0	0	0	16301	1725	60	3	632	3	TNFSF12-TNFSF13	17	7463187	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	93342	7463187	73732023	890	34955											
STX8	9482	broad.mit.edu	37	chr17	9395197	9395197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgccccatttgtttttggcGacttatgatagaggaaaggg	12	7	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:9395197G>A	uc002glx.2	-	6	640	c.490C>T	c.(490-492)CGC>TGC	p.R164C		NM_004853	NP_004844	Q9UNK0	STX8_HUMAN	syntaxin 8	164	t-SNARE coiled-coil homology.|Cytoplasmic (Potential).				transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)	1						TGTTTTTGGCGACTTATGATA	0.363													A	9395197	G	A	9395197	3	1	37	1	0	0	0	0	1	0	0	0	15350	1058	37	1	232	1	STX8	17	9395197	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1932010	9395197	71800013	891	34956											
MYH8	4626	broad.mit.edu	37	chr17	10304654	10304654	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatgttgactttgtcctcctCtgcctgcaggtcatccaggg	11	12	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:10304654C>A	uc002gmm.2	-	24	3141	c.3046G>T	c.(3046-3048)GAG>TAG	p.E1016*	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1016	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						TTGTCCTCCTCTGCCTGCAGG	0.453									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				A	10304654	C	A	10304654	4	1	37	1	0	0	0	0	0	1	0	0	10041	922	32	5	2835	5	MYH8	17	10304654	Nonsense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	909457	10304654	70890556	892	34957											
MYH1	4619	broad.mit.edu	37	chr17	10399358	10399358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctgttccagagtggccCgcagctcctcgatctcagcc	10	16	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:10399358C>T	uc002gmo.2	-	35	5172	c.5078G>A	c.(5077-5079)CGG>CAG	p.R1693Q	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1693	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						CAGAGTGGCCCGCAGCTCCTC	0.597													T	10399358	C	T	10399358	3	4	37	1	0	0	0	0	1	0	0	0	10029	652	23	1	765	1	MYH1	17	10399358	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	94704	10399358	70795852	893	34958											
MYH1	4619	broad.mit.edu	37	chr17	10399610	10399610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagggcctcagcagccatgCggttggcatggttcagctgg	15	11	3	0	rs146429782	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:10399610C>T	uc002gmo.2	-	34	5007	c.4913G>A	c.(4912-4914)CGC>CAC	p.R1638H	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1638	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R1638C(1)		ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						AGCAGCCATGCGGTTGGCATG	0.507													T	10399610	C	T	10399610	3	4	37	1	0	0	0	0	1	0	0	0	10029	768	27	1	934	1	MYH1	17	10399610	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	252	10399610	70795600	894	34959											
RICH2	9912	broad.mit.edu	37	chr17	12847420	12847420	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccttccttcgggaagccGctggaggagcacctcaccat	11	14	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:12847420G>A	uc002gnr.3	+	10	1095	c.768G>A	c.(766-768)CCG>CCA	p.P256P	RICH2_uc010vvk.1_Silent_p.P256P|RICH2_uc010vvl.1_Silent_p.P256P|RICH2_uc002gns.3_Silent_p.P56P|RICH2_uc010vvm.1_Silent_p.P256P|RICH2_uc010vvn.1_RNA|RICH2_uc002gnt.1_5'UTR	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	256	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						TCGGGAAGCCGCTGGAGGAGC	0.597													A	12847420	G	A	12847420	2	1	37	1	0	0	0	0	0	0	0	1	13357	1074	38	1		1	RICH2	17	12847420	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2447810	12847420	68347790	895	34960											
ZNF287	57336	broad.mit.edu	37	chr17	16455348	16455348	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacattcattacatttatagGgtctctctccagtatgagtt	6	9	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:16455348G>T	uc002gqi.2	-	6	2561	c.2108C>A	c.(2107-2109)CCC>CAC	p.P703H		NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	zinc finger protein 287	696					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		ACATTTATAGGGTCTCTCTCC	0.368													T	16455348	G	T	16455348	3	4	37	1	0	0	0	0	1	0	0	0	17822	1232	43	5	181	5	ZNF287	17	16455348	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3607928	16455348	64739862	896	34961											
ZNF624	57547	broad.mit.edu	37	chr17	16526706	16526706	+	Frame_Shift_Del	DEL	T	T	-													cattcattacattcatagggTttttccccagtgtgagttct					rs34948063		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:16526705_16526705GT>G	uc010cpi.2	-	5	1587	c.1495_1495AC>C	c.(1495-1497)cccfs	p.P499fs	ZNF624_uc021tre.1_Frame_Shift_Del_p.P373fs	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	Homo sapiens zinc finger protein 624 (ZNF624), mRNA.	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CATTCATAGGGTTTTTCCCCA	0.373													-	16526706	T	-	16526706	7	5	37	1	0	1	0	1	0	0	0	0	18045	1722	60	0	1107	0	ZNF624	17	16526706	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	71358	16526706	64668504	897	34962											
MPRIP	23164	broad.mit.edu	37	chr17	17030083	17030083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtggatggggagggccGcacgggccagaagttctccc	18	10	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:17030083G>A	uc002gqu.1	+	4	391	c.335G>A	c.(334-336)CGC>CAC	p.R112H	MPRIP_uc002gqv.1_Missense_Mutation_p.R112H	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	112	Interaction with F-actin (By similarity).|PH 1.					cytoplasm|cytoskeleton	actin binding				0						GGGGAGGGCCGCACGGGCCAG	0.597													A	17030083	G	A	17030083	3	1	37	1	0	0	0	0	1	0	0	0	9743	1087	38	1	349	1	MPRIP	17	17030083	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	503377	17030083	64165127	898	34963											
MPRIP	23164	broad.mit.edu	37	chr17	17053492	17053492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagaaattgacttgtccgCatgttacgatgtcacagagt	11	7	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:17053492C>T	uc002gqu.1	+	12	1366	c.1310C>T	c.(1309-1311)GCA>GTA	p.A437V	MPRIP_uc002gqv.1_Missense_Mutation_p.A437V|MPRIP_uc002gqw.1_Missense_Mutation_p.A192V	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	437	PH 2.					cytoplasm|cytoskeleton	actin binding				0						GACTTGTCCGCATGTTACGAT	0.488													T	17053492	C	T	17053492	3	4	37	1	0	0	0	0	1	0	0	0	9743	710	25	2	1356	2	MPRIP	17	17053492	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	23409	17053492	64141718	899	34964											
MYO15A	51168	broad.mit.edu	37	chr17	18025032	18025032	+	Frame_Shift_Del	DEL	C	C	-													gctcctgggccctgtgccatCccccaccctccagcctgagg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:18025031_18025031TC>T	uc021trm.1	+	0	3136	c.2917_2917TC>T	c.(2917-2919)tccfs	p.S973fs	MYO15A_uc021trl.1_Frame_Shift_Del_p.S973fs	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	973	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCTGTGCCATCCCCCACCCT	0.657													-	18025032	C	-	18025032	7	5	37	1	0	1	0	1	0	0	0	0	10063	855	30	0	2920	0	MYO15A	17	18025032	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	971540	18025032	63170178	900	34965											
CCDC144B	284047	broad.mit.edu	37	chr17	18486027	18486027	+	RNA	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccttttgtttacttgtcagaAtctgatcttgtaatattctg	6	7	4	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:18486027A>T	uc002gua.3	-	11		c.2446T>A								Homo sapiens cDNA FLJ36492 fis, clone THYMU2018455.											ovary(1)|skin(1)	2						ACTTGTCAGAATCTGATCTTG	0.343													T	18486027	A	T	18486027	1	4	37	0	1	0	0	0	0	0	0	0	2778	116	4	5		5	CCDC144B	17	18486027	RNA	SNP	A	TCGA-BR-6566-01A-11D-1800-08	460995	18486027	62709183	901	34966											
EPN2	22905	broad.mit.edu	37	chr17	19232061	19232061	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccattgacccatggggggtGcccactggagccaccgtaca	12	14	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:19232061G>A	uc002gvd.3	+	8	1633	c.1185G>A	c.(1183-1185)GTG>GTA	p.V395V	EPN2_uc010cql.1_Silent_p.V104V|EPN2_uc002gve.3_Silent_p.V338V|EPN2_uc002gvf.3_Silent_p.V110V|EPN2_uc010vyo.1_Silent_p.V103V|EPN2_uc010vyp.1_Silent_p.V331V|EPN2_uc010vyq.1_Silent_p.V332V|EPN2_uc002gvh.1_Silent_p.V395V|EPN2_uc002gvj.3_Silent_p.V58V	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	395	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CATGGGGGGTGCCCACTGGAG	0.612													A	19232061	G	A	19232061	2	1	37	1	0	0	0	0	0	0	0	1	5186	1306	46	2		2	EPN2	17	19232061	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	746034	19232061	61963149	902	34967											
TMEM11	8834	broad.mit.edu	37	chr17	21101784	21101784	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtgtgcagaggcaggcgCgacagtttataggcgtcgta	16	7	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:21101784C>T	uc002gyp.2	-	2	875	c.432G>A	c.(430-432)TCG>TCA	p.S144S	TMEM11_uc002gyq.2_3'UTR	NM_003876	NP_003867	P17152	TMM11_HUMAN	transmembrane protein 11	144					mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding				0						GAGGCAGGCGCGACAGTTTAT	0.597													T	21101784	C	T	21101784	2	4	37	1	0	0	0	0	0	0	0	1	16023	755	27	1		1	TMEM11	17	21101784	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1869723	21101784	60093426	903	34968											
NOS2	4843	broad.mit.edu	37	chr17	26105983	26105983	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccatgtaccagccattgaaGgggcaccctgggaactccag	11	14	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:26105983G>T	uc002gzu.2	-	10	1368	c.1104C>A	c.(1102-1104)CCC>CCA	p.P368P	NOS2_uc010crh.1_Silent_p.P368P|NOS2_uc010wab.1_Silent_p.P368P	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	368					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AGCCATTGAAGGGGCACCCTG	0.607													T	26105983	G	T	26105983	2	4	37	1	0	0	0	0	0	0	0	1	10543	987	35	5		5	NOS2	17	26105983	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	5004199	26105983	55089227	904	34969											
NOS2	4843	broad.mit.edu	37	chr17	26107891	26107891	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaccagggggaccacatcGaagcggccgtacttgggctt	15	11	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:26107891G>A	uc002gzu.2	-	9	1170	c.906C>T	c.(904-906)TTC>TTT	p.F302F	NOS2_uc010crh.1_Silent_p.F302F|NOS2_uc010wab.1_Silent_p.F302F	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	302					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GGACCACATCGAAGCGGCCGT	0.622													A	26107891	G	A	26107891	2	1	37	1	0	0	0	0	0	0	0	1	10543	1049	37	1		1	NOS2	17	26107891	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1908	26107891	55087319	905	34970											
NOS2	4843	broad.mit.edu	37	chr17	26108173	26108173	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggaagtcgtgcttgccatcActccgctgggggaacacggt	14	12	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:26108173A>G	uc002gzu.2	-	8	1017	c.753T>C	c.(751-753)AGT>AGC	p.S251S	NOS2_uc010crh.1_Silent_p.S251S|NOS2_uc010wab.1_Silent_p.S251S	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	251					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GCTTGCCATCACTCCGCTGGG	0.622													G	26108173	A	G	26108173	2	3	37	1	0	0	0	0	0	0	0	1	10543	156	6	3		3	NOS2	17	26108173	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	282	26108173	55087037	906	34971											
SLC13A2	9058	broad.mit.edu	37	chr17	26820707	26820707	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttgcagaaaaggccatcAgcatcctattcgtcatcctg	7	13	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:26820707A>C	uc002hbh.2	+	7	1064	c.997A>C	c.(997-999)AGC>CGC	p.S333R	SLC13A2_uc010wal.1_Missense_Mutation_p.S290R|SLC13A2_uc010wam.1_Missense_Mutation_p.S289R|SLC13A2_uc010wan.1_Missense_Mutation_p.S382R|SLC13A2_uc010wao.1_Missense_Mutation_p.S290R|SLC13A2_uc002hbi.2_Missense_Mutation_p.S262R	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	333	Helical; (Potential).					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	AAAGGCCATCAGCATCCTATT	0.572													C	26820707	A	C	26820707	3	2	37	1	0	0	0	0	1	0	0	0	14392	188	7	5	1170	5	SLC13A2	17	26820707	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	712534	26820707	54374503	907	34972											
TRAF4	9618	broad.mit.edu	37	chr17	27071132	27071132	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccggccgctcgcccgccaTgcctggcttcgactacaagt	11	17	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:27071132T>C	uc002hcs.2	+	1	110	c.2T>C	c.(1-3)ATG>ACG	p.M1T	TRAF4_uc002hcq.1_Missense_Mutation_p.M1T	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	1					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			upper_aerodigestive_tract(1)|lung(1)	2	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			TCGCCCGCCATGCCTGGCTTC	0.751													C	27071132	T	C	27071132	3	2	37	1	0	0	0	0	1	0	0	0	16440	1464	51	3	4	3	TRAF4	17	27071132	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	250425	27071132	54124078	908	34973											
CRYBA1	1411	broad.mit.edu	37	chr17	27579207	27579207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcgtctcatgtccttccGccccatctgttcagctgtga	9	14	3	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:27579207G>A	uc002hdw.2	+	4	348	c.341G>A	c.(340-342)CGC>CAC	p.R114H		NM_005208	NP_005199	P05813	CRBA1_HUMAN	crystallin, beta A3	114	Beta/gamma crystallin 'Greek key' 2.				visual perception	soluble fraction	structural constituent of eye lens				0			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ATGTCCTTCCGCCCCATCTGT	0.507											OREG0024293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	27579207	G	A	27579207	3	1	37	1	0	0	0	0	1	0	0	0	3907	1087	38	1	355	1	CRYBA1	17	27579207	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	508075	27579207	53616003	909	34974											
AATF	26574	broad.mit.edu	37	chr17	35306443	35306443	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgatggcggggccgcagccCctggcgctgcaactggaaca	15	14	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:35306443C>A	uc002hni.2	+	1	269	c.18C>A	c.(16-18)CCC>CCA	p.P6P	AATF_uc002hnj.2_RNA	NM_012138	NP_036270	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	6					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity				0		Breast(25;0.00607)				GGCCGCAGCCCCTGGCGCTGC	0.697													A	35306443	C	A	35306443	2	1	37	1	0	0	0	0	0	0	0	1	25	610	22	5		5	AATF	17	35306443	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	7727236	35306443	45888767	910	34975											
SYNRG	11276	broad.mit.edu	37	chr17	35921614	35921614	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaggacttgtcagctgcaAttcctttaaacacagcatat	7	10	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:35921614A>C	uc002hoa.2	-	12	1642	c.1559T>G	c.(1558-1560)ATT>AGT	p.I520S	SYNRG_uc010wde.1_Missense_Mutation_p.I442S|SYNRG_uc010wdf.1_Missense_Mutation_p.I442S|SYNRG_uc002hoc.2_Missense_Mutation_p.I441S|SYNRG_uc002hoe.2_Missense_Mutation_p.I442S|SYNRG_uc002hod.2_Missense_Mutation_p.I442S|SYNRG_uc010wdg.1_Missense_Mutation_p.I359S|SYNRG_uc002hob.2_Missense_Mutation_p.I520S|SYNRG_uc002hof.2_Missense_Mutation_p.I232S|SYNRG_uc010cvd.1_Missense_Mutation_p.I320S	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	520	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						GTCAGCTGCAATTCCTTTAAA	0.353													C	35921614	A	C	35921614	3	2	37	1	0	0	0	0	1	0	0	0	15457	101	4	5	2502	5	SYNRG	17	35921614	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	615171	35921614	45273596	911	34976											
PCGF2	7703	broad.mit.edu	37	chr17	36895090	36895090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctccaagacctcgccgCggtcctcattggagccgttg	11	16	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:36895090C>T	uc002hqp.1	-	7	584	c.341G>A	c.(340-342)CGC>CAC	p.R114H	PCGF2_uc002hqn.1_Missense_Mutation_p.R114H|PCGF2_uc002hqo.1_Missense_Mutation_p.R114H|PCGF2_uc010cvo.1_5'UTR|PCGF2_uc002hqq.1_Missense_Mutation_p.R114H	NM_007144	NP_009075	P35227	PCGF2_HUMAN	ring finger protein 110	114					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|skin(1)	2	Breast(7;9.07e-22)					GACCTCGCCGCGGTCCTCATT	0.587													T	36895090	C	T	36895090	3	4	37	1	0	0	0	0	1	0	0	0	11575	768	27	1	713	1	PCGF2	17	36895090	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	973476	36895090	44300120	912	34977											
CDK12	51755	broad.mit.edu	37	chr17	37650838	37650838	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagagggcttcccaatcacAgccattcgtgaaatcaaaat	7	10	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:37650838A>G	uc010cvv.2	+	5	2896	c.2310A>G	c.(2308-2310)ACA>ACG	p.T770T	CDK12_uc010wef.1_Silent_p.T769T|CDK12_uc002hrw.3_Silent_p.T770T	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	770	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						TCCCAATCACAGCCATTCGTG	0.269										TCGA Ovarian(9;0.13)			G	37650838	A	G	37650838	2	3	37	1	0	0	0	0	0	0	0	1	3128	175	7	3		3	CDK12	17	37650838	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	755748	37650838	43544372	913	34978											
ERBB2	2064	broad.mit.edu	37	chr17	37881000	37881000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcatacgtgatggctggtGtgggctccccatatgtctcc	12	11	1	1	rs121913471		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:37881000G>A	uc002hso.2	+	20	2567	c.2329G>A	c.(2329-2331)GTG>ATG	p.V777M	ERBB2_uc002hsm.2_Missense_Mutation_p.V747M|ERBB2_uc010cwa.2_Missense_Mutation_p.V762M|ERBB2_uc002hsp.2_Missense_Mutation_p.V580M|ERBB2_uc010cwb.2_Missense_Mutation_p.V777M|ERBB2_uc010wek.1_Missense_Mutation_p.V501M	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	777	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V777L(5)|p.V777A(2)|p.V777M(1)		lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GATGGCTGGTGTGGGCTCCCC	0.577		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			A	37881000	G	A	37881000	3	1	37	1	0	0	0	0	1	0	0	0	5206	1377	48	4	2407	4	ERBB2	17	37881000	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	230162	37881000	43314210	914	34979											
SMARCE1	6605	broad.mit.edu	37	chr17	38792295	38792295	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcacgactttttgcattTatgtaagcaaggtacgcggg	11	8	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:38792295T>C	uc002hux.2	-	7	553	c.429A>G	c.(427-429)ATA>ATG	p.I143M	SMARCE1_uc010wff.1_Missense_Mutation_p.I108M|SMARCE1_uc010wfg.1_Missense_Mutation_p.I73M|SMARCE1_uc002huy.2_Missense_Mutation_p.I108M|SMARCE1_uc010wfh.1_Missense_Mutation_p.I73M|SMARCE1_uc010wfi.1_Missense_Mutation_p.I125M|SMARCE1_uc002huz.1_Missense_Mutation_p.I108M|SMARCE1_uc010wfj.1_Missense_Mutation_p.I125M	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	SWI/SNF-related matrix-associated	143					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity				0		Breast(137;0.000812)				TTTTTGCATTTATGTAAGCAA	0.383													C	38792295	T	C	38792295	3	2	37	1	0	0	0	0	1	0	0	0	14780	1744	61	3	826	3	SMARCE1	17	38792295	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	911295	38792295	42402915	915	34980											
KRT28	162605	broad.mit.edu	37	chr17	38950122	38950122	+	Frame_Shift_Del	DEL	T	T	-													cggcagtaggtctcaatttcTttttccaagtggaccttgac							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:38950121_38950121CT>C	uc002hvh.1	-	5	1222	c.1156_1156AG>G	c.(1156-1158)gaafs	p.E386fs		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	386	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GTCTCAATTTCTTTTTCCAAG	0.498													-	38950122	T	-	38950122	7	5	37	1	0	1	0	1	0	0	0	0	8465	1606	56	0	251	0	KRT28	17	38950122	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	157827	38950122	42245088	916	34981											
KRT39	390792	broad.mit.edu	37	chr17	39116718	39116718	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaaggccgtgtagcgagcCtctgtctccgttaggatgca	13	11	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:39116718C>T	uc002hvo.1	-	6	1068	c.1032G>A	c.(1030-1032)GAG>GAA	p.E344E	KRT39_uc010wfm.1_Silent_p.E77E	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	344	Coil 2.|Rod.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)				TGTAGCGAGCCTCTGTCTCCG	0.512													T	39116718	C	T	39116718	2	4	37	1	0	0	0	0	0	0	0	1	8476	680	24	4		4	KRT39	17	39116718	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	166596	39116718	42078492	917	34982											
KRTAP4-4	84616	broad.mit.edu	37	chr17	39316761	39316761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacacagcagctggggtgGcagcaggtggtcctgcagca	16	11	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:39316761G>A	uc002hwc.2	-	1	223	c.183C>T	c.(181-183)TGC>TGT	p.C61C		NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	keratin associated protein 4.4	61	9.|26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).			keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCTGGGGTGGCAGCAGGTGG	0.662													A	39316761	G	A	39316761	2	1	37	1	0	0	0	0	0	0	0	1	8553	1195	42	2		2	KRTAP4-4	17	39316761	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	200043	39316761	41878449	918	34983											
KRTAP9-9	81870	broad.mit.edu	37	chr17	39412120	39412120	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagcccacctgtgtgtcCagctgctgccagccttcttg	9	16	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:39412120C>T	uc010wfq.1	+	3	440	c.438C>T	c.(436-438)TCC>TCT	p.S146S		NM_030975	NP_112237	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	161						keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTGTGTGTCCAGCTGCTGCC	0.562													T	39412120	C	T	39412120	2	4	37	1	0	0	0	0	0	0	0	1	8577	581	21	4		4	KRTAP9-9	17	39412120	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	95359	39412120	41783090	919	34984											
KRT33B	3884	broad.mit.edu	37	chr17	39525931	39525931	+	Frame_Shift_Del	DEL	G	G	-													agggtgtagccgtggcagctGgggggcacacagggccggga							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:39525930_39525930TG>T	uc002hwl.3	-	0	118	c.73_73CA>A	c.(73-75)agcfs	p.S25fs		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	25	Head.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CCGTGGCAGCTGGGGGGCACA	0.647													-	39525931	G	-	39525931	7	5	37	1	0	1	0	1	0	0	0	0	8470	1335	47	0	1170	0	KRT33B	17	39525931	Frame_Shift_Del	DEL	G	TCGA-BR-6566-01A-11D-1800-08	113811	39525931	41669279	920	34985											
JUP	3728	broad.mit.edu	37	chr17	39919526	39919526	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgaggacgttgacgtcatcCacactcagctgattcaccag	10	12	3	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:39919526C>A	uc002hxq.2	-	8	1483	c.1206G>T	c.(1204-1206)GTG>GTT	p.V402V	JUP_uc010wfs.1_Intron|JUP_uc002hxr.2_Silent_p.V402V|JUP_uc002hxs.2_Silent_p.V402V	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	402	ARM 5.				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGACGTCATCCACACTCAGCT	0.587													A	39919526	C	A	39919526	2	1	37	1	0	0	0	0	0	0	0	1	7972	581	21	5		5	JUP	17	39919526	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	393595	39919526	41275684	921	34986											
KCNH4	23415	broad.mit.edu	37	chr17	40328259	40328259	+	Frame_Shift_Del	DEL	C	C	-													tggaggaggaggcagcgagaCccccccacggaggccacctt							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:40328258_40328258AC>A	uc002hzb.2	-	4	976	c.643_643GT>T	c.(643-645)tctfs	p.S215fs		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	215					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCAGCGAGACCCCCCCACG	0.602													-	40328259	C	-	40328259	7	5	37	1	0	1	0	1	0	0	0	0	8034	494	18	0	2459	0	KCNH4	17	40328259	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	408733	40328259	40866951	922	34987											
STAT5B	6777	broad.mit.edu	37	chr17	40375517	40375517	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctcctcaaacgtctggtTgatctggaggtgtttctggg	13	9	4	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:40375517T>C	uc002hzh.2	-	5	602	c.433A>G	c.(433-435)AAC>GAC	p.N145D	STAT5B_uc002hzi.3_Missense_Mutation_p.N145D	NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	145					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)|skin(1)	6		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	AACGTCTGGTTGATCTGGAGG	0.537													C	40375517	T	C	40375517	3	2	37	1	0	0	0	0	1	0	0	0	15268	1812	63	3	1990	3	STAT5B	17	40375517	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	47258	40375517	40819693	923	34988											
NAGLU	4669	broad.mit.edu	37	chr17	40690468	40690469	+	Frame_Shift_Ins	INS	-	-	C													cacctgggatggccccctgcINSccccctcctggcacatcaag							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:40690467_40690468G>GC	uc002hzv.3	+	2	982_983	c.642_643G>GC	c.(640-645)ctgcccfs	p.L214fs		NM_000263	NP_000254	P54802	ANAG_HUMAN	Homo sapiens N-acetylglucosaminidase, alpha (NAGLU), mRNA.	214						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	ATGGCCCCCTGCCCCCCTCCTG	0.594													C	40690469	-	C	40690468	7	5	37	1	0	1	1	0	0	0	0	0	10143	739	26	0	653	0	NAGLU	17	40690468	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	314951	40690468	40504742	924	34989											
NAGLU	4669	broad.mit.edu	37	chr17	40690692	40690692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctgttcctccagcaccGggtcctggaccagatgcgct	10	16	1	1	rs146456266	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:40690692G>A	uc002hzv.2	+	4	1023	c.683G>A	c.(682-684)CGG>CAG	p.R228Q		NM_000263	NP_000254	P54802	ANAG_HUMAN	alpha-N-acetylglucosaminidase precursor	228						lysosome	alpha-N-acetylglucosaminidase activity				0		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CTCCAGCACCGGGTCCTGGAC	0.632													A	40690692	G	A	40690692	3	1	37	1	0	0	0	0	1	0	0	0	10143	1116	39	1	697	1	NAGLU	17	40690692	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	224	40690692	40504518	925	34990											
MLX	6945	broad.mit.edu	37	chr17	40723569	40723569	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgccctcgccagacccTgcgggagattgtgattggcg	14	13	0	3	rs140676383		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:40723569T>C	uc002iag.2	+	8	910	c.845T>C	c.(844-846)CTG>CCG	p.L282P	MLX_uc002iaf.2_Missense_Mutation_p.L228P|MLX_uc002iah.2_Missense_Mutation_p.L198P	NM_170607	NP_733752	Q9UH92	MLX_HUMAN	transcription factor-like protein 4 isoform	282					energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CGCCAGACCCTGCGGGAGATT	0.493													C	40723569	T	C	40723569	3	2	37	1	0	0	0	0	1	0	0	0	9635	1580	55	3	875	3	MLX	17	40723569	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	32877	40723569	40471641	926	34991											
AARSD1	80755	broad.mit.edu	37	chr17	41108535	41108535	+	Frame_Shift_Del	DEL	G	G	-													acttgctctgcagtcatagaGggggtgtccagctcaatcgc					rs35465584		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:41108534_41108534AG>A	uc010whg.2	-	9	1301	c.955_955CT>T	c.(955-957)tctfs	p.S319fs	AARSD1_uc002icd.3_Frame_Shift_Del_p.S258fs|AARSD1_uc010cyu.1_Frame_Shift_Del_p.S145fs	NM_001136042	NP_079543	Q9BTE6	AASD1_HUMAN	Homo sapiens alanyl-tRNA synthetase domain containing 1 (AARSD1), transcript variant 1, mRNA.	145					alanyl-tRNA aminoacylation	cytoplasm	ATP binding|alanine-tRNA ligase activity|metal ion binding|nucleic acid binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GCAGTCATAGAGGGGGTGTCC	0.483													-	41108535	G	-	41108535	7	5	37	1	0	1	0	1	0	0	0	0	21	987	35	0	838	0	AARSD1	17	41108535	Frame_Shift_Del	DEL	G	TCGA-BR-6566-01A-11D-1800-08	384966	41108535	40086675	927	34992											
PLEKHM1	9842	broad.mit.edu	37	chr17	43516967	43516967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcaaattcaatcagggCcttgaggaatccttcataca	10	9	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:43516967C>T	uc002ija.2	-	11	3105	c.2935G>A	c.(2935-2937)GCC>ACC	p.A979T	PLEKHM1_uc010wjm.1_Missense_Mutation_p.A951T|PLEKHM1_uc002ijb.2_Missense_Mutation_p.A454T	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	979					intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)					TCAATCAGGGCCTTGAGGAAT	0.572													T	43516967	C	T	43516967	3	4	37	1	0	0	0	0	1	0	0	0	12080	739	26	2	243	2	PLEKHM1	17	43516967	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2408432	43516967	37678243	928	34993											
XYLT2	64132	broad.mit.edu	37	chr17	48437638	48437638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggcctgtcaaagcagacGggcgactcaggtagcagggc	17	10	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:48437638G>A	uc002iqo.2	+	11	2693	c.2584G>A	c.(2584-2586)GGG>AGG	p.G862R	XYLT2_uc010dbo.2_RNA	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	862	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			pancreas(1)	1	Breast(11;7.18e-19)					CAAAGCAGACGGGCGACTCAG	0.652													A	48437638	G	A	48437638	3	1	37	1	0	0	0	0	1	0	0	0	17461	1116	39	1	2626	1	XYLT2	17	48437638	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	4920671	48437638	32757572	929	34994											
MYCBPAP	84073	broad.mit.edu	37	chr17	48598498	48598498	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcccagagggacgcttcatAccgctacacctgggatcgga	12	13	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:48598498A>G	uc010wmr.1	+	8	1235	c.1073A>G	c.(1072-1074)TAC>TGC	p.Y358C	MYCBPAP_uc002iqx.2_Missense_Mutation_p.Y358C|MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	321					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GACGCTTCATACCGCTACACC	0.567													G	48598498	A	G	48598498	3	3	37	1	0	0	0	0	1	0	0	0	10019	391	14	3	1103	3	MYCBPAP	17	48598498	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	160860	48598498	32596712	930	34995											
WFIKKN2	124857	broad.mit.edu	37	chr17	48913367	48913367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgctgctgctgctgctGctactgctcggggtgccccc	14	16	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:48913367G>A	uc002isv.3	+	1	763	c.69G>A	c.(67-69)CTG>CTA	p.L23L	WFIKKN2_uc010dbu.2_Intron	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	23						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			tgctgctgctgctactgctCG	0.612													A	48913367	G	A	48913367	2	1	37	1	0	0	0	0	0	0	0	1	17356	1306	46	2		2	WFIKKN2	17	48913367	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	314869	48913367	32281843	931	34996											
DGKE	8526	broad.mit.edu	37	chr17	54939267	54939267	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggatgggggacgagacttAccctctagccaggtatgtac	14	9	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:54939267A>G	uc002iur.2	+	10	1580	c.1400A>G	c.(1399-1401)TAC>TGC	p.Y467C	DGKE_uc002ius.1_Missense_Mutation_p.Y467C	NM_003647	NP_003638	P52429	DGKE_HUMAN	diacylglycerol kinase epsilon	467					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(2)	2	Breast(9;3.59e-07)					GACGAGACTTACCCTCTAGCC	0.423													G	54939267	A	G	54939267	3	3	37	1	0	0	0	0	1	0	0	0	4468	391	14	3	1434	3	DGKE	17	54939267	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	6025900	54939267	26255943	932	34997											
TRIM25	7706	broad.mit.edu	37	chr17	54969487	54969487	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaacctctggggatgcggCcggtagttctgaggcatctc	15	10	3	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:54969487C>T	uc002iut.2	-	9	1527	c.1467G>A	c.(1465-1467)CGG>CGA	p.R489R	TRIM25_uc010dcj.2_Silent_p.R281R	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	489	B30.2/SPRY.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)					GGGGATGCGGCCGGTAGTTCT	0.532													T	54969487	C	T	54969487	2	4	37	1	0	0	0	0	0	0	0	1	16496	726	26	2		2	TRIM25	17	54969487	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	30220	54969487	26225723	933	34998											
EPX	8288	broad.mit.edu	37	chr17	56276417	56276417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggtgacacccgatcaacGgaaacccccaaactggcagc	9	15	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:56276417G>A	uc002ivq.2	+	8	1223	c.1137G>A	c.(1135-1137)ACG>ACA	p.T379T		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	379					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						CCCGATCAACGGAAACCCCCA	0.567													A	56276417	G	A	56276417	2	1	37	1	0	0	0	0	0	0	0	1	5200	1103	39	1		1	EPX	17	56276417	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1306930	56276417	24918793	934	34999											
BZRAP1	9256	broad.mit.edu	37	chr17	56385063	56385063	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatagtcaaacagagccAcaaagatcctgacgggtagg	12	9	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:56385063A>G	uc002ivx.3	-	24	5763	c.4892T>C	c.(4891-4893)GTG>GCG	p.V1631A	BZRAP1_uc002ivv.2_5'Flank|BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_Missense_Mutation_p.V1571A|BZRAP1_uc010wnt.1_Missense_Mutation_p.V1631A	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	1631	SH3 2.					mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAACAGAGCCACAAAGATCCT	0.567													G	56385063	A	G	56385063	3	3	37	1	0	0	0	0	1	0	0	0	1577	159	6	3	713	3	BZRAP1	17	56385063	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	108646	56385063	24810147	935	35000											
MRC2	9902	broad.mit.edu	37	chr17	60743600	60743600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaggactacggcaaagaCgagcgctggggcttctgccc	13	14	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:60743600C>T	uc002jad.2	+	3	1068	c.666C>T	c.(664-666)GAC>GAT	p.D222D	MRC2_uc002jac.2_Silent_p.D222D	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	222	Extracellular (Potential).|Fibronectin type-II.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						ACGGCAAAGACGAGCGCTGGG	0.657													T	60743600	C	T	60743600	2	4	37	1	0	0	0	0	0	0	0	1	9758	535	19	1		1	MRC2	17	60743600	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	4358537	60743600	20451610	936	35001											
TANC2	26115	broad.mit.edu	37	chr17	61498207	61498207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaccagcccagcccagccGtccattcaagcaccgtcatc	7	18	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:61498207G>A	uc002jal.3	+	25	4887	c.4864G>A	c.(4864-4866)GTC>ATC	p.V1622I	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Missense_Mutation_p.V733I	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1622							binding			ovary(2)	2						CAGCCCAGCCGTCCATTCAAG	0.567													A	61498207	G	A	61498207	3	1	37	1	0	0	0	0	1	0	0	0	15542	1145	40	1	4962	1	TANC2	17	61498207	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	754607	61498207	19697003	937	35002											
MAP3K3	4215	broad.mit.edu	37	chr17	61744414	61744414	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccagaagcaggcacctcTctgtcagtgagtatttcaac	9	12	3	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:61744414T>C	uc002jbg.2	+	6	815	c.496T>C	c.(496-498)TCT>CCT	p.S166P	MAP3K3_uc002jbe.2_Missense_Mutation_p.S197P|MAP3K3_uc002jbf.2_Missense_Mutation_p.S197P|MAP3K3_uc002jbh.2_Missense_Mutation_p.S197P|MAP3K3_uc010wpo.1_Missense_Mutation_p.S81P|MAP3K3_uc010wpp.1_Missense_Mutation_p.S166P	NM_002401	NP_002392	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	166					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	6						CAGGCACCTCTCTGTCAGTGA	0.448													C	61744414	T	C	61744414	3	2	37	1	0	0	0	0	1	0	0	0	9251	1551	54	3	615	3	MAP3K3	17	61744414	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	246207	61744414	19450796	938	35003											
POLG2	11232	broad.mit.edu	37	chr17	62481966	62481966	+	Frame_Shift_Del	DEL	T	T	-													agagaacacaaggaaccacaTtttttcgtccatctcggccc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:62481965_62481965AT>A	uc002jei.3	-	4	1088	c.990_990AT>T	c.(988-990)aatfs	p.N330fs	POLG2_uc021ubq.1_Frame_Shift_Del_p.N63fs|POLG2_uc010deg.2_Frame_Shift_Del_p.N330fs	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	Homo sapiens polymerase (DNA directed), gamma 2, accessory subunit (POLG2), nuclear gene encoding mitochondrial protein, mRNA.	330					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			AAGGAACCACATTTTTTCGTC	0.413													-	62481966	T	-	62481966	7	5	37	1	0	1	0	1	0	0	0	0	12201	1493	52	0	484	0	POLG2	17	62481966	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	737552	62481966	18713244	939	35004											
RGS9	8787	broad.mit.edu	37	chr17	63156438	63156438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcattctcaagcctgatgGcagcctctacagatttcagg	8	12	4	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:63156438G>A	uc002jfe.2	+	4	403	c.293G>A	c.(292-294)GGC>GAC	p.G98D	RGS9_uc010dem.2_Missense_Mutation_p.G98D|RGS9_uc002jfd.2_Missense_Mutation_p.G98D|RGS9_uc002jff.2_RNA	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	98	DEP.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4						AAGCCTGATGGCAGCCTCTAC	0.473													A	63156438	G	A	63156438	3	1	37	1	0	0	0	0	1	0	0	0	13313	1203	42	2	307	2	RGS9	17	63156438	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	674472	63156438	18038772	940	35005											
BPTF	2186	broad.mit.edu	37	chr17	65940481	65940481	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accaccactgtttccacgacAgcagcaggtagagctgtggg	12	12	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:65940481A>C	uc002jgf.2	+	20	6754	c.6693A>C	c.(6691-6693)ACA>ACC	p.T2231T	BPTF_uc002jge.2_Silent_p.T2357T|BPTF_uc002jgg.2_Silent_p.T31T	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2357	Thr-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTCCACGACAGCAGCAGGTA	0.512													C	65940481	A	C	65940481	2	2	37	1	0	0	0	0	0	0	0	1	1495	175	7	5		5	BPTF	17	65940481	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	2784043	65940481	15254729	941	35006											
SOX9	6662	broad.mit.edu	37	chr17	70117594	70117594	+	Frame_Shift_Del	DEL	C	C	-													ggagaagggcctgtccggcgCccccagccccaccatgtccg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:70117593_70117593GC>G	uc002jiw.3	+	0	433	c.61_61GC>G	c.(61-63)gccfs	p.A21fs	AK094963_uc002jiv.3_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	21					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CCTGTCCGGCGCCCCCAGCCC	0.711													-	70117594	C	-	70117594	7	5	37	1	0	1	0	1	0	0	0	0	14958	739	26	0	64	0	SOX9	17	70117594	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	4177113	70117594	11077616	942	35007											
SDK2	54549	broad.mit.edu	37	chr17	71426743	71426743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggggggcttggtgatgCgggtccgagctgaaagatac	18	8	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:71426743C>T	uc010dfm.2	-	12	1490	c.1490G>A	c.(1489-1491)CGC>CAC	p.R497H	SDK2_uc010dfn.2_Missense_Mutation_p.R176H	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	497	Extracellular (Potential).|Ig-like C2-type 6.				cell adhesion	integral to membrane				ovary(2)	2						CTTGGTGATGCGGGTCCGAGC	0.592													T	71426743	C	T	71426743	3	4	37	1	0	0	0	0	1	0	0	0	13969	768	27	1	5164	1	SDK2	17	71426743	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1309149	71426743	9768467	943	35008											
TTYH2	94015	broad.mit.edu	37	chr17	72245498	72245498	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaggtgactcgctactAcctgtattgcagccagagtg	12	10	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:72245498A>G	uc002jkc.2	+	8	921	c.890A>G	c.(889-891)TAC>TGC	p.Y297C	TTYH2_uc010wqw.1_Missense_Mutation_p.Y276C|TTYH2_uc002jkd.2_5'UTR	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	297	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4						ACTCGCTACTACCTGTATTGC	0.602													G	72245498	A	G	72245498	3	3	37	1	0	0	0	0	1	0	0	0	16737	391	14	3	920	3	TTYH2	17	72245498	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	818755	72245498	8949712	944	35009											
GPR142	350383	broad.mit.edu	37	chr17	72368072	72368072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacatcctggagtttgctgCcaaccacgcctcagtctgga	9	14	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:72368072C>T	uc010wqy.1	+	4	722	c.722C>T	c.(721-723)GCC>GTC	p.A241V	GPR142_uc010wqx.1_Missense_Mutation_p.A153V	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	241	Helical; Name=3; (Potential).					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GAGTTTGCTGCCAACCACGCC	0.682													T	72368072	C	T	72368072	3	4	37	1	0	0	0	0	1	0	0	0	6650	739	26	2	736	2	GPR142	17	72368072	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	122574	72368072	8827138	945	35010											
CD300A	11314	broad.mit.edu	37	chr17	72470778	72470778	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgcagtgggtgccaccCacagtgccagcatccaggag	13	12	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:72470778C>A	uc002jkv.2	+	3	808	c.487C>A	c.(487-489)CAC>AAC	p.H163N	CD300A_uc002jkw.2_Missense_Mutation_p.H50N|CD300A_uc010dfr.2_Missense_Mutation_p.H50N|CD300A_uc010dfs.2_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	leukocyte membrane antigen	163	Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2						GGGTGCCACCCACAGTGCCAG	0.552													A	72470778	C	A	72470778	3	1	37	1	0	0	0	0	1	0	0	0	2996	594	21	5	497	5	CD300A	17	72470778	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	102706	72470778	8724432	946	35011											
NUP85	79902	broad.mit.edu	37	chr17	73229063	73229063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccacgctcgtgtcagacaGgtgggtgccgctagtgttgg	16	10	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:73229063G>A	uc002jng.1	+	15	1774	c.1514G>A	c.(1513-1515)AGG>AAG	p.R505K	NUP85_uc010dgd.1_Missense_Mutation_p.R460K|NUP85_uc010wrv.1_Missense_Mutation_p.R459K|NUP85_uc002jnh.1_Missense_Mutation_p.R108K	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	505					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GTGTCAGACAGGTGGGTGCCG	0.617													A	73229063	G	A	73229063	3	1	37	1	0	0	0	0	1	0	0	0	10770	1014	35	4	1572	4	NUP85	17	73229063	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	758285	73229063	7966147	947	35012											
ITGB4	3691	broad.mit.edu	37	chr17	73746239	73746239	+	Frame_Shift_Del	DEL	C	C	-													agatgttgtcatcacagccaCcccctcacggcgacctgggc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:73746238_73746238AC>A	uc002jpg.3	+	27	3550	c.3363_3363AC>A	c.(3361-3363)ccafs	p.P1121fs	ITGB4_uc002jph.3_Frame_Shift_Del_p.P1121fs|ITGB4_uc002jpi.4_Frame_Shift_Del_p.P1121fs|ITGB4_uc002jpj.3_Frame_Shift_Del_p.P1121fs	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1121					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CATCACAGCCACCCCCTCACG	0.617											OREG0024739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	73746239	C	-	73746239	7	5	37	1	0	1	0	1	0	0	0	0	7897	507	18	0	3470	0	ITGB4	17	73746239	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	517176	73746239	7448971	948	35013											
ITGB4	3691	broad.mit.edu	37	chr17	73753308	73753308	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccgcagctgggcagccgtgCcgggctcttccagcacccgc	13	19	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:73753308C>G	uc002jpg.2	+	39	5433	c.5246C>G	c.(5245-5247)GCC>GGC	p.A1749G	ITGB4_uc002jph.2_Missense_Mutation_p.A1679G|ITGB4_uc002jpi.3_Missense_Mutation_p.A1679G|ITGB4_uc002jpj.2_Missense_Mutation_p.A1732G|GALK1_uc010wsi.1_Intron	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1749	Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCAGCCGTGCCGGGCTCTTC	0.672													G	73753308	C	G	73753308	3	3	37	1	0	0	0	0	1	0	0	0	7897	739	26	5	5559	5	ITGB4	17	73753308	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	7069	73753308	7441902	949	35014											
CDK3	1018	broad.mit.edu	37	chr17	73997602	73997604	+	In_Frame_Del	DEL	GAA	GAA	-													acagggcagctggtggccctGaagaagatcagactggattt							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:73997601_73997603TGAA>T	uc002jqg.4	+	3	1931_1933	c.179_181TGAA>T	c.(178-183)ctgaag>cTag	p.K62del	CDK3_uc010dgt.3_In_Frame_Del_p.K34del	NM_001258	NP_001249	Q00526	CDK3_HUMAN	Homo sapiens cyclin-dependent kinase 3 (CDK3), mRNA.	34	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						CTGGTGGCCCTGAAGAAGATCAG	0.581													-	73997604	GAA	-	73997602	7	5	37	1	0	1	0	1	0	0	0	0	3140	1277	45	0	98	0	CDK3	17	73997602	In_Frame_Del	DEL	GAA	TCGA-BR-6566-01A-11D-1800-08	244294	73997602	7197608	950	35015											
RNF157	114804	broad.mit.edu	37	chr17	74151699	74151699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggaagagagagcctctcCctcctcttcagtgccagggg	15	12	3	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:74151699C>T	uc002jqz.2	-	15	1711	c.1642G>A	c.(1642-1644)GGA>AGA	p.G548R	RNF157_uc002jra.2_Missense_Mutation_p.G548R|uc002jrb.1_5'Flank	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157	548							zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			AGAGCCTCTCCCTCCTCTTCA	0.607													T	74151699	C	T	74151699	3	4	37	1	0	0	0	0	1	0	0	0	13454	632	22	4	417	4	RNF157	17	74151699	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	154097	74151699	7043511	951	35016											
C1QTNF1	114897	broad.mit.edu	37	chr17	77040120	77040120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctttgcctctggcctggtcCtgagtcgtgtgccccatgtc	11	15	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:77040120C>A	uc002jwp.2	+	2	410	c.70C>A	c.(70-72)CTG>ATG	p.L24M	C1QTNF1_uc002jwq.2_Intron|C1QTNF1_uc002jwr.3_Missense_Mutation_p.L34M|C1QTNF1_uc002jws.2_Missense_Mutation_p.L24M|C1QTNF1_uc002jwt.2_Missense_Mutation_p.L122M	NM_030968	NP_112230	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	24						collagen				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			TGGCCTGGTCCTGAGTCGTGT	0.657													A	77040120	C	A	77040120	3	1	37	1	0	0	0	0	1	0	0	0	1962	680	24	5	72	5	C1QTNF1	17	77040120	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2888421	77040120	4155090	952	35017											
CCDC40	55036	broad.mit.edu	37	chr17	78011966	78011966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgagggagagaaggaagGgaataatgaaagccacatgg	15	4	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:78011966G>A	uc010dht.2	+	2	101	c.74G>A	c.(73-75)GGG>GAG	p.G25E	TBC1D16_uc002jxj.2_5'Flank|CCDC40_uc010wub.1_Missense_Mutation_p.G25E	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	25					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAGAAGGAAGGGAATAATGAA	0.378													A	78011966	G	A	78011966	3	1	37	1	0	0	0	0	1	0	0	0	2812	1232	43	4	80	4	CCDC40	17	78011966	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	971846	78011966	3183244	953	35018											
RNF213	57674	broad.mit.edu	37	chr17	78363029	78363029	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacagctgcagtcctacagCgatgcctgtgaagtgctgtc	13	11	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:78363029C>T	uc002jyh.1	+	40	9499	c.9276C>T	c.(9274-9276)AGC>AGT	p.S3092S	uc002jyi.1_Intron|RNF213_uc010dhx.1_Silent_p.S36S	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment								p.S3092N(1)		ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGTCCTACAGCGATGCCTGTG	0.532													T	78363029	C	T	78363029	2	4	37	1	0	0	0	0	0	0	0	1	13477	767	27	1		1	RNF213	17	78363029	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	351063	78363029	2832181	954	35019											
RPTOR	57521	broad.mit.edu	37	chr17	78865595	78865595	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgtggccctgcagttcataGaagaggaaaagaactacgcc	11	11	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:78865595G>T	uc002jyt.1	+	18	2864	c.2059G>T	c.(2059-2061)GAA>TAA	p.E687*	RPTOR_uc010wug.1_Nonsense_Mutation_p.E529*	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	687					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						GCAGTTCATAGAAGAGGAAAA	0.547													T	78865595	G	T	78865595	4	4	37	1	0	0	0	0	0	1	0	0	13665	943	33	5	2129	5	RPTOR	17	78865595	Nonsense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	502566	78865595	2329615	955	35020											
SLC38A10	124565	broad.mit.edu	37	chr17	79219742	79219742	+	Frame_Shift_Del	DEL	C	C	-													gtgggacacaggcacatggtCccccccgcgggcctttctca							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:79219741_79219741TC>T	uc002jzz.1	-	15	3350	c.2975_2975GA>A	c.(2974-2976)gacfs	p.D992fs	SLC38A10_uc002jzy.1_Frame_Shift_Del_p.D910fs|SLC38A10_uc021uey.1_Frame_Shift_Del_p.D67fs	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	992					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGGCACATGGTCCCCCCCGCG	0.682													-	79219742	C	-	79219742	7	5	37	1	0	1	0	1	0	0	0	0	14602	855	30	0	389	0	SLC38A10	17	79219742	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	354147	79219742	1975468	956	35021											
ZNF750	79755	broad.mit.edu	37	chr17	80788060	80788060	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagtgtgaacactctggcCgtgtcctgcagcttcgcctt	11	13	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:80788060C>T	uc002kga.2	-	3	2441	c.2130G>A	c.(2128-2130)ACG>ACA	p.T710T	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	710						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ACACTCTGGCCGTGTCCTGCA	0.572													T	80788060	C	T	80788060	2	4	37	1	0	0	0	0	0	0	0	1	18129	639	23	1		1	ZNF750	17	80788060	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1568318	80788060	407150	957	35022											
MYOM1	8736	broad.mit.edu	37	chr18	3135622	3135622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaattagaacagcggacaCggaaacagtaggatttcccc	10	10	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:3135622C>T	uc002klp.2	-	15	2466	c.2132G>A	c.(2131-2133)CGT>CAT	p.R711H	MYOM1_uc002klq.2_Missense_Mutation_p.R711H	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	711	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						ACAGCGGACACGGAAACAGTA	0.522													T	3135622	C	T	3135622	3	4	37	1	0	0	0	0	1	0	0	0	10091	536	19	1	3021	1	MYOM1	18	3135622	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08		3135622	74941626	958	35023											
EPB41L3	23136	broad.mit.edu	37	chr18	5397403	5397403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttccgtctctattccactgGactccgtcttggtttccatt	7	13	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:5397403G>A	uc002kmt.1	-	18	2581	c.2495C>T	c.(2494-2496)TCC>TTC	p.S832F	EPB41L3_uc010wzh.1_Missense_Mutation_p.S663F|EPB41L3_uc002kmu.1_Missense_Mutation_p.S610F|EPB41L3_uc010dkq.1_Missense_Mutation_p.S501F|EPB41L3_uc002kms.1_Missense_Mutation_p.S67F|EPB41L3_uc010wze.1_Missense_Mutation_p.S137F|EPB41L3_uc010wzf.1_Missense_Mutation_p.S129F|EPB41L3_uc010wzg.1_Missense_Mutation_p.S104F|EPB41L3_uc010dkr.2_Missense_Mutation_p.S224F	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	832	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						TATTCCACTGGACTCCGTCTT	0.537													A	5397403	G	A	5397403	3	1	37	1	0	0	0	0	1	0	0	0	5154	1174	41	4	788	4	EPB41L3	18	5397403	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2261781	5397403	72679845	959	35024											
LAMA1	284217	broad.mit.edu	37	chr18	6997771	6997771	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagttgtattttccaggttTgacaaaattccatatgggac	8	6	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:6997771T>C	uc002knm.2	-	33	4870	c.4776A>G	c.(4774-4776)TCA>TCG	p.S1592S	LAMA1_uc010wzj.1_Silent_p.S1068S	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1592	Domain II and I.				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)	TTTCCAGGTTTGACAAAATTC	0.418													C	6997771	T	C	6997771	2	2	37	1	0	0	0	0	0	0	0	1	8605	1799	63	3		3	LAMA1	18	6997771	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	1600368	6997771	71079477	960	35025											
CIDEA	1149	broad.mit.edu	37	chr18	12274251	12274251	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctacgacatccggtgcAcgggactcaagggcctgctg	13	13	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:12274251A>C	uc002kqt.3	+	4	555	c.490A>C	c.(490-492)ACG>CCG	p.T164P	CIDEA_uc002kqu.3_Missense_Mutation_p.T198P|CIDEA_uc010dlc.2_RNA	NM_001279	NP_001270	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a isoform	164					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			ovary(1)|central_nervous_system(1)	2						CATCCGGTGCACGGGACTCAA	0.592													C	12274251	A	C	12274251	3	2	37	1	0	0	0	0	1	0	0	0	3425	159	6	5	648	5	CIDEA	18	12274251	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	5276480	12274251	65802997	961	35026											
FAM59A	64762	broad.mit.edu	37	chr18	29890192	29890192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatcctccatgacgtacacGcgttcaggaaatgccttagc	8	12	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:29890192G>A	uc002kxl.2	-	3	413	c.357C>T	c.(355-357)CGC>CGT	p.R119R	FAM59A_uc002kxk.1_Silent_p.R119R	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	119	CABIT.									ovary(1)|skin(1)	2						TGACGTACACGCGTTCAGGAA	0.413													A	29890192	G	A	29890192	2	1	37	1	0	0	0	0	0	0	0	1	5592	1074	38	1		1	FAM59A	18	29890192	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	17615941	29890192	48187056	962	35027											
ASXL3	80816	broad.mit.edu	37	chr18	31326030	31326030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttagttggccacagtccaCgggcatatgtagcaatataa	9	9	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:31326030C>T	uc010dmg.1	+	12	6273	c.6218C>T	c.(6217-6219)ACG>ATG	p.T2073M	ASXL3_uc002kxq.2_Missense_Mutation_p.T1780M	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	2073					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						CCACAGTCCACGGGCATATGT	0.398													T	31326030	C	T	31326030	3	4	37	1	0	0	0	0	1	0	0	0	1068	536	19	1	6264	1	ASXL3	18	31326030	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1435838	31326030	46751218	963	35028											
INO80C	125476	broad.mit.edu	37	chr18	33077704	33077704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcaaagctggaagcggaCgcttttttcttcttactggc	11	10	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:33077704C>T	uc002kyy.3	-	1	252	c.135G>A	c.(133-135)GCG>GCA	p.A45A	INO80C_uc002kyw.1_Silent_p.A45A|INO80C_uc002kyx.3_5'Flank|INO80C_uc010dmt.2_Silent_p.A45A	NM_194281	NP_919257	Q6PI98	IN80C_HUMAN	Ies6-similar protein isoform 2	45					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex					0						TGGAAGCGGACGCTTTTTTCT	0.672													T	33077704	C	T	33077704	2	4	37	1	0	0	0	0	0	0	0	1	7748	523	19	1		1	INO80C	18	33077704	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1751674	33077704	44999544	964	35029											
KIAA1632	57724	broad.mit.edu	37	chr18	43440128	43440128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccatgtggcggacggacGccaggctctggcaggctgct	16	13	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:43440128G>A	uc002lbm.2	-	40	7050	c.6950C>T	c.(6949-6951)GCG>GTG	p.A2317V	KIAA1632_uc010xcq.1_Missense_Mutation_p.A871V|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.A1192V	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	2317					autophagy						0						GCGGACGGACGCCAGGCTCTG	0.532													A	43440128	G	A	43440128	3	1	37	1	0	0	0	0	1	0	0	0	8249	1087	38	1	809	1	KIAA1632	18	43440128	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	10362424	43440128	34637120	965	35030											
C18orf25	147339	broad.mit.edu	37	chr18	43795862	43795862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaatgaagatggaggagGcagtgggaaaagttgaagaa	16	2	0	5			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:43795862G>A	uc002lbw.2	+	2	395	c.16G>A	c.(16-18)GCA>ACA	p.A6T	C18orf25_uc002lbx.2_Missense_Mutation_p.A6T	NM_145055	NP_659492	Q96B23	CR025_HUMAN	ARKadia-like 1 isoform a	6										central_nervous_system(2)	2						GATGGAGGAGGCAGTGGGAAA	0.418													A	43795862	G	A	43795862	3	1	37	1	0	0	0	0	1	0	0	0	1899	1203	42	2	18	2	C18orf25	18	43795862	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	355734	43795862	34281386	966	35031											
ACAA2	10449	broad.mit.edu	37	chr18	47323922	47323922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctttgggattcccacacGcaaaccaacatgccttgcca	6	16	0	0	rs145076043		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:47323922G>A	uc002ldw.3	-	3	623	c.226C>T	c.(226-228)CGT>TGT	p.R76C	ACAA2_uc002ldx.3_Missense_Mutation_p.R73C	NM_006111	NP_006102	P42765	THIM_HUMAN	acetyl-coenzyme A acyltransferase 2	76					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1						ATTCCCACACGCAAACCAACA	0.388													A	47323922	G	A	47323922	3	1	37	1	0	0	0	0	1	0	0	0	105	1087	38	1	999	1	ACAA2	18	47323922	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3528060	47323922	30753326	967	35032											
CDH7	1005	broad.mit.edu	37	chr18	63477150	63477150	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcccgagtcggagtttgtcAtcaaaattcaggatatcaac	9	9	4	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:63477150A>G	uc002ljz.2	+	3	746	c.421A>G	c.(421-423)ATC>GTC	p.I141V	CDH7_uc002lka.2_Missense_Mutation_p.I141V|CDH7_uc002lkb.2_Missense_Mutation_p.I141V	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	141	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				GGAGTTTGTCATCAAAATTCA	0.512													G	63477150	A	G	63477150	3	3	37	1	0	0	0	0	1	0	0	0	3115	217	8	3	427	3	CDH7	18	63477150	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	16153228	63477150	14600098	968	35033											
CBLN2	147381	broad.mit.edu	37	chr18	70209217	70209217	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaggcacttgccctccAgcacgatgggctccgtgtcg	11	17	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:70209217A>G	uc002lku.2	-	2	414	c.179T>C	c.(178-180)CTG>CCG	p.L60P	CBLN2_uc002lkv.2_Missense_Mutation_p.L60P	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	60						integral to membrane					0		Esophageal squamous(42;0.131)				CTTGCCCTCCAGCACGATGGG	0.706													G	70209217	A	G	70209217	3	3	37	1	0	0	0	0	1	0	0	0	2705	188	7	3	507	3	CBLN2	18	70209217	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	6732067	70209217	7868031	969	35034											
NETO1	81832	broad.mit.edu	37	chr18	70461450	70461450	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtatagactccacaattcCttcggaaccgcccatctcaa	5	14	1	1	rs138679154		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:70461450C>A	uc002lkw.2	-	6	825	c.541G>T	c.(541-543)GGA>TGA	p.G181*	NETO1_uc002lkx.1_Nonsense_Mutation_p.G180*|NETO1_uc002lky.1_Nonsense_Mutation_p.G181*	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	181	CUB 2.|Extracellular (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.G181R(1)		ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCCACAATTCCTTCGGAACCG	0.428													A	70461450	C	A	70461450	4	1	37	1	0	0	0	0	0	1	0	0	10339	690	24	5	1080	5	NETO1	18	70461450	Nonsense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	252233	70461450	7615798	970	35035											
ZNF407	55628	broad.mit.edu	37	chr18	72346733	72346733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacacctgtgccctgtgaCgctcgatggggagcgctcgg	15	13	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:72346733C>T	uc002llw.2	+	1	3815	c.3758C>T	c.(3757-3759)ACG>ATG	p.T1253M	ZNF407_uc010xfc.1_Missense_Mutation_p.T1253M|ZNF407_uc010dqu.1_Missense_Mutation_p.T1253M|ZNF407_uc002llu.2_Missense_Mutation_p.T1252M	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGCCCTGTGACGCTCGATGGG	0.572													T	72346733	C	T	72346733	3	4	37	1	0	0	0	0	1	0	0	0	17884	536	19	1	3760	1	ZNF407	18	72346733	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1885283	72346733	5730515	971	35036											
NFATC1	4772	broad.mit.edu	37	chr18	77170705	77170705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgatgtggaggtggaagacGtcctccctagctccaaacgg	13	11	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:77170705G>A	uc010xfg.1	+	2	883	c.430G>A	c.(430-432)GTC>ATC	p.V144I	NFATC1_uc002lnc.1_Missense_Mutation_p.V144I|NFATC1_uc010xff.1_Missense_Mutation_p.V144I|NFATC1_uc002lnd.2_Missense_Mutation_p.V144I|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.V144I|NFATC1_uc010xfi.1_Missense_Mutation_p.V131I|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.V131I|NFATC1_uc002lng.2_Missense_Mutation_p.V131I|NFATC1_uc010xfk.1_Missense_Mutation_p.V131I	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	144	Trans-activation domain A (TAD-A).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GGTGGAAGACGTCCTCCCTAG	0.627													A	77170705	G	A	77170705	3	1	37	1	0	0	0	0	1	0	0	0	10361	1145	40	1	528	1	NFATC1	18	77170705	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	4823972	77170705	906543	972	35037											
MED16	10025	broad.mit.edu	37	chr19	877145	877145	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagccccacctccagcggGtggcccatggaaggtgagag	15	14	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:877145G>A	uc002lqd.1	-	9	1540	c.1389C>T	c.(1387-1389)CAC>CAT	p.H463H	MED16_uc010drw.1_Silent_p.H288H|MED16_uc002lqe.2_Silent_p.H452H|MED16_uc002lqf.2_Silent_p.H452H|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Intron|MED16_uc010xfx.1_Silent_p.H308H|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	463					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCAGCGGGTGGCCCATGG	0.672													A	877145	G	A	877145	2	1	37	1	0	0	0	0	0	0	0	1	9434	1252	44	4		4	MED16	19	877145	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08		877145	58251838	973	35038											
C19orf6	91304	broad.mit.edu	37	chr19	1014301	1014301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgggaagctcccgcggcCgccgctgtcacagaactgta	13	16	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:1014301C>T	uc002lqr.1	-	2	543	c.397G>A	c.(397-399)GGC>AGC	p.G133S	C19orf6_uc002lqq.1_5'Flank|C19orf6_uc002lqs.1_Missense_Mutation_p.G133S	NM_001033026	NP_001028198	Q4ZIN3	MBRL_HUMAN	membralin isoform 1	133						cytoplasm|integral to membrane				pancreas(2)|breast(1)	3		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.0252)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCGCGGCCGCCGCTGTCA	0.637													T	1014301	C	T	1014301	3	4	37	1	0	0	0	0	1	0	0	0	1941	652	23	1	1505	1	C19orf6	19	1014301	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	137156	1014301	58114682	974	35039											
ADAT3	113179	broad.mit.edu	37	chr19	1912976	1912976	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgagccctgcgccatgtgCgccatggccctggtgcacgc	14	17	0	0	rs150936899		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:1912976C>T	uc002luh.2	+	2	1110	c.882C>T	c.(880-882)TGC>TGT	p.C294C	SCAMP4_uc002lui.1_Intron|SCAMP4_uc002luj.2_Intron|SCAMP4_uc002luk.2_Intron|SCAMP4_uc010dss.2_Intron	NM_138422	NP_612431	Q96EY9	ADAT3_HUMAN	tRNA-specific adenosine deaminase 3	294		Zinc (By similarity).			tRNA processing		hydrolase activity|zinc ion binding			breast(1)|skin(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCCATGTGCGCCATGGCCC	0.716													T	1912976	C	T	1912976	2	4	37	1	0	0	0	0	0	0	0	1	286	776	27	1		1	ADAT3	19	1912976	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	898675	1912976	57216007	975	35040											
TMPRSS9	360200	broad.mit.edu	37	chr19	2408410	2408410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcgacctacctcagcggctCggaggccagcaccgtgcggg	15	15	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:2408410C>T	uc010xgx.1	+	7	797	c.797C>T	c.(796-798)TCG>TTG	p.S266L	TMPRSS9_uc002lvv.1_Missense_Mutation_p.S300L	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	266	Extracellular (Potential).|Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAGCGGCTCGGAGGCCAGC	0.637													T	2408410	C	T	2408410	3	4	37	1	0	0	0	0	1	0	0	0	16250	893	31	1	823	1	TMPRSS9	19	2408410	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	495434	2408410	56720573	976	35041											
LMNB2	84823	broad.mit.edu	37	chr19	2433834	2433834	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccggtcaccttgtccgagTtgttcttgagctgcacaaac	9	12	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:2433834T>C	uc002lvy.2	-	8	1499	c.1412A>G	c.(1411-1413)AAC>AGC	p.N471S	LMNB2_uc002lwa.1_Missense_Mutation_p.N491S	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	471	Tail.					nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGTCCGAGTTGTTCTTGAG	0.657													C	2433834	T	C	2433834	3	2	37	1	0	0	0	0	1	0	0	0	8850	1725	60	3	410	3	LMNB2	19	2433834	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	25424	2433834	56695149	977	35042											
TLE2	7089	broad.mit.edu	37	chr19	3028804	3028804	+	Splice_Site	DEL	G	G	-													gccggactggagcggggtctGgggggggtgtgggggaaacg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:3028803_3028803TG>T	uc010dth.3	-	2	288	c.25_splice	c.e2-1	p.T9_splice	TLE2_uc002lww.3_Splice_Site_p.T9_splice|TLE2_uc010xhc.2_Splice_Site|TLE2_uc010dti.3_Splice_Site_p.T22_splice|TLE2_uc010xhd.1_Splice_Site_p.T9_splice	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	9	Gln-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCGGGGTCTGGGGGGGGTG	0.622													-	3028804	G	-	3028804	8	5	37	1	0	1	0	1	0	0	1	0	15936	1363	47	0		0	TLE2	19	3028804	Splice_Site	DEL	G	TCGA-BR-6566-01A-11D-1800-08	594970	3028804	56100179	978	35043											
PIP5K1C	23396	broad.mit.edu	37	chr19	3646034	3646034	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcggcatagaagctgGggcggtggacggacaccgtg	18	10	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:3646034G>T	uc002lyj.1	-	11	1340	c.1283C>A	c.(1282-1284)CCC>CAC	p.P428H	PIP5K1C_uc010xhq.1_Missense_Mutation_p.P428H|PIP5K1C_uc010xhr.1_Missense_Mutation_p.P428H	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	428	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		ATAGAAGCTGGGGCGGTGGAC	0.622													T	3646034	G	T	3646034	3	4	37	1	0	0	0	0	1	0	0	0	11941	1232	43	5	755	5	PIP5K1C	19	3646034	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	617230	3646034	55482949	979	35044											
MATK	4145	broad.mit.edu	37	chr19	3779798	3779798	+	Splice_Site	DEL	G	G	-													actcaccctgcaggacagctGgggggtgggggtggggaacg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:3779797_3779797TG>T	uc002lyt.3	-	9	1143	c.743_splice	c.e9-1	p.A248_splice	MATK_uc002lyv.3_Splice_Site_p.A249_splice|MATK_uc002lyu.3_Splice_Site_p.A207_splice|MATK_uc010dtq.3_Splice_Site_p.A248_splice|JA611290_uc021umx.1_5'Flank	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	248	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGACAGCTGGGGGGTGGG	0.607													-	3779798	G	-	3779798	8	5	37	1	0	1	0	1	0	0	1	0	9332	1363	47	0		0	MATK	19	3779798	Splice_Site	DEL	G	TCGA-BR-6566-01A-11D-1800-08	133764	3779798	55349185	980	35045											
FSD1	79187	broad.mit.edu	37	chr19	4323414	4323414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaccaggttcacacagcCgctgctgcctgctttcacgg	10	15	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:4323414C>T	uc002lzy.2	+	12	1514	c.1361C>T	c.(1360-1362)CCG>CTG	p.P454L	FSD1_uc002lzz.2_Missense_Mutation_p.R424C|FSD1_uc002maa.2_Missense_Mutation_p.P267L	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing	454	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCACACAGCCGCTGCTGCCT	0.657													T	4323414	C	T	4323414	3	4	37	1	0	0	0	0	1	0	0	0	6070	652	23	1	1407	1	FSD1	19	4323414	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	543616	4323414	54805569	981	35046											
UHRF1	29128	broad.mit.edu	37	chr19	4929423	4929423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacccacggtgaggcggccGccgagactgacagcaggcca	14	16	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:4929423G>A	uc002mbo.2	+	3	511	c.343G>A	c.(343-345)GCC>ACC	p.A115T	UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.A128T	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	115					cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TGAGGCGGCCGCCGAGACTGA	0.652													A	4929423	G	A	4929423	3	1	37	1	0	0	0	0	1	0	0	0	16964	1087	38	1	388	1	UHRF1	19	4929423	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	606009	4929423	54199560	982	35047											
SAFB2	9667	broad.mit.edu	37	chr19	5590402	5590402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggtcctccgtggccatgGcggtcatctccatagtgctg	15	12	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:5590402G>A	uc002mcd.2	-	18	2624	c.2412C>T	c.(2410-2412)CGC>CGT	p.R804R		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	804	Interacts with SAFB1.|Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CGTGGCCATGGCGGTCATCTC	0.667													A	5590402	G	A	5590402	2	1	37	1	0	0	0	0	0	0	0	1	13807	1190	42	2		2	SAFB2	19	5590402	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	660979	5590402	53538581	983	35048											
FBN3	84467	broad.mit.edu	37	chr19	8137014	8137014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attcgtagcaggcttcagacGagagcagctcctctttgtcc	10	12	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:8137014G>A	uc002mjf.2	-	62	8027	c.8006C>T	c.(8005-8007)TCG>TTG	p.S2669L	FBN3_uc002mje.2_Missense_Mutation_p.S465L	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2669						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GGCTTCAGACGAGAGCAGCTC	0.657													A	8137014	G	A	8137014	3	1	37	1	0	0	0	0	1	0	0	0	5704	1059	37	1	431	1	FBN3	19	8137014	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2546612	8137014	50991969	984	35049											
RAB11B	9230	broad.mit.edu	37	chr19	8464825	8464825	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caacgagttcaacctggagaGcaagagcaccatcggcgtgg	13	11	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:8464825G>T	uc002mju.3	+	2	215	c.119G>T	c.(118-120)AGC>ATC	p.S40I	RAB11B_uc010xkd.1_Missense_Mutation_p.S40I	NM_004218	NP_004209	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	40	Effector region (By similarity).				cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity				0						AACCTGGAGAGCAAGAGCACC	0.642													T	8464825	G	T	8464825	3	4	37	1	0	0	0	0	1	0	0	0	12892	971	34	5	125	5	RAB11B	19	8464825	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	327811	8464825	50664158	985	35050											
HNRNPM	4670	broad.mit.edu	37	chr19	8548060	8548060	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaatcctaagtaatgcacTgaagagaggagagatcattg	11	5	1	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:8548060T>C	uc010dwe.2	+	13	1219	c.1139T>C	c.(1138-1140)CTG>CCG	p.L380P	HNRNPM_uc010xke.1_Missense_Mutation_p.L326P|HNRNPM_uc010dwd.2_Missense_Mutation_p.L341P|HNRNPM_uc002mka.2_Missense_Mutation_p.L245P	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	380					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0						AGTAATGCACTGAAGAGAGGA	0.378													C	8548060	T	C	8548060	3	2	37	1	0	0	0	0	1	0	0	0	7271	1580	55	3	1189	3	HNRNPM	19	8548060	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	83235	8548060	50580923	986	35051											
MUC16	94025	broad.mit.edu	37	chr19	9049103	9049104	+	Frame_Shift_Ins	INS	-	-	A													ggtgtctgatttactatggaINSaaaaaatggaagttgtccag							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:9049102_9049103G>GA	uc002mkp.3	-	4	32732_32733	c.32528_32529C>TC	c.(32527-32529)ttcfs	p.F10843fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10845	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTTACTATGGAAAAAAATGGA	0.49													A	9049104	-	A	9049103	7	5	37	1	0	1	1	0	0	0	0	0	9973	246	9	0	11315	0	MUC16	19	9049103	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	501043	9049103	50079880	987	35052											
OR7E24	26648	broad.mit.edu	37	chr19	9362135	9362135	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgagtgtgatggcctatgAccggtttgtggccatctgtc	13	10	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:9362135A>T	uc002mlb.1	+	1	416	c.416A>T	c.(415-417)GAC>GTC	p.D139V		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						ATGGCCTATGACCGGTTTGTG	0.458													T	9362135	A	T	9362135	3	4	37	1	0	0	0	0	1	0	0	0	11221	275	10	5	418	5	OR7E24	19	9362135	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	313032	9362135	49766848	988	35053											
DNM2	1785	broad.mit.edu	37	chr19	10893787	10893787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgccacatctgcagaagacGctgaatcaggtactgcaagg	11	11	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:10893787G>A	uc002mps.1	+	6	1004	c.840G>A	c.(838-840)ACG>ACA	p.T280T	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Silent_p.T280T|DNM2_uc002mpv.1_Silent_p.T280T|DNM2_uc002mpu.1_Silent_p.T280T|DNM2_uc010dxl.1_Silent_p.T280T|DNM2_uc002mpw.2_Silent_p.T13T	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	280					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TGCAGAAGACGCTGAATCAGG	0.577													A	10893787	G	A	10893787	2	1	37	1	0	0	0	0	0	0	0	1	4672	1074	38	1		1	DNM2	19	10893787	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1531652	10893787	48235196	989	35054											
ZNF442	79973	broad.mit.edu	37	chr19	12461464	12461464	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctccagtgtgagttcttTcatgtattcgaagggaactg	10	8	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:12461464T>C	uc002mtr.1	-	6	1546	c.935A>G	c.(934-936)GAA>GGA	p.E312G	ZNF442_uc010xmk.1_Missense_Mutation_p.E243G	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	312	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|breast(1)|kidney(1)	4						GTGAGTTCTTTCATGTATTCG	0.418													C	12461464	T	C	12461464	3	2	37	1	0	0	0	0	1	0	0	0	17912	1783	62	3	952	3	ZNF442	19	12461464	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	1567677	12461464	46667519	990	35055											
TNPO2	30000	broad.mit.edu	37	chr19	12826220	12826220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagggagctgcacccaccGgatcttgggactgcagtgct	13	14	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:12826220G>A	uc002muo.2	-	6	750	c.565C>T	c.(565-567)CGG>TGG	p.R189W	TNPO2_uc002mup.2_Missense_Mutation_p.R281W|TNPO2_uc002muq.2_Missense_Mutation_p.R189W|TNPO2_uc002mur.2_Missense_Mutation_p.R189W	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	189	HEAT 2.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						TGCACCCACCGGATCTTGGGA	0.627													A	12826220	G	A	12826220	3	1	37	1	0	0	0	0	1	0	0	0	16333	1130	39	1	2204	1	TNPO2	19	12826220	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	364756	12826220	46302763	991	35056											
RAD23A	5886	broad.mit.edu	37	chr19	13060124	13060124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagttcctgcgggaccagCcccagttccagaacatgcgg	13	13	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:13060124C>T	uc002mvw.1	+	7	824	c.715C>T	c.(715-717)CCC>TCC	p.P239S	RAD23A_uc002mvx.1_Missense_Mutation_p.P238S|RAD23A_uc002mvz.1_Missense_Mutation_p.P238S|RAD23A_uc002mwa.1_Missense_Mutation_p.P239S|RAD23A_uc002mvy.1_Missense_Mutation_p.P73S|RAD23A_uc010xmw.1_Missense_Mutation_p.P74S	NM_005053	NP_005044	P54725	RD23A_HUMAN	UV excision repair protein RAD23 homolog A	239					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)	1						GCGGGACCAGCCCCAGTTCCA	0.637								NER					T	13060124	C	T	13060124	3	4	37	1	0	0	0	0	1	0	0	0	12982	739	26	2	741	2	RAD23A	19	13060124	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	233904	13060124	46068859	992	35057											
LPHN1	22859	broad.mit.edu	37	chr19	14272389	14272389	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggctgtgctggtgaggggCgtgggcctggctgtggtggt	23	6	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:14272389C>T	uc010xnn.1	-	7	1556	c.1260G>A	c.(1258-1260)ACG>ACA	p.T420T	LPHN1_uc010xno.1_Silent_p.T415T|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	420	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						TGGTGAGGGGCGTGGGCCTGG	0.697													T	14272389	C	T	14272389	2	4	37	1	0	0	0	0	0	0	0	1	8915	755	27	1		1	LPHN1	19	14272389	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1212265	14272389	44856594	993	35058											
CYP4F3	4051	broad.mit.edu	37	chr19	15760769	15760769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttggagctcagtgcccttGtgacaaaaagacaccagcag	10	11	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:15760769G>A	uc002nbj.2	+	7	744	c.694G>A	c.(694-696)GTG>ATG	p.V232M	CYP4F3_uc010xok.1_Missense_Mutation_p.V232M|CYP4F3_uc010xol.1_Missense_Mutation_p.V232M|CYP4F3_uc010xom.1_Missense_Mutation_p.V83M|CYP4F3_uc002nbk.2_Missense_Mutation_p.V232M|CYP4F3_uc010xon.1_5'Flank	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	232					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3						CAGTGCCCTTGTGACAAAAAG	0.532													A	15760769	G	A	15760769	3	1	37	1	0	0	0	0	1	0	0	0	4190	1377	48	4	716	4	CYP4F3	19	15760769	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1488380	15760769	43368214	994	35059											
SIN3B	23309	broad.mit.edu	37	chr19	16977341	16977341	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctccaagagcttgctcAacgagatcgagagcgtctac	11	12	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:16977341A>G	uc002ney.1	+	13	1890	c.1876A>G	c.(1876-1878)AAC>GAC	p.N626D	SIN3B_uc002nez.1_Missense_Mutation_p.N594D|SIN3B_uc010xpi.1_Missense_Mutation_p.N184D	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	626					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						GAGCTTGCTCAACGAGATCGA	0.627													G	16977341	A	G	16977341	3	3	37	1	0	0	0	0	1	0	0	0	14326	130	5	3	1926	3	SIN3B	19	16977341	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	1216572	16977341	42151642	995	35060											
GTPBP3	84705	broad.mit.edu	37	chr19	17450368	17450368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggttgcgggagggcgtgGggcccgtggagcaggagggc	24	8	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:17450368G>A	uc010eas.2	+	7	999	c.934G>A	c.(934-936)GGG>AGG	p.G312R	GTPBP3_uc010xpo.1_Missense_Mutation_p.G334R|GTPBP3_uc010ear.1_RNA|GTPBP3_uc002ngh.3_Missense_Mutation_p.G312R|GTPBP3_uc002ngg.3_Missense_Mutation_p.G344R|GTPBP3_uc002ngi.3_5'UTR	NM_032620	NP_116009	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial) isoform V	312					tRNA modification	mitochondrion	GTP binding|GTPase activity			skin(1)	1						GGAGGGCGTGGGGCCCGTGGA	0.716													A	17450368	G	A	17450368	3	1	37	1	0	0	0	0	1	0	0	0	6881	1232	43	4	1052	4	GTPBP3	19	17450368	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	473027	17450368	41678615	996	35061											
NCAN	1463	broad.mit.edu	37	chr19	19338930	19338930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccatggattccacagtcaCgccggcccccagtgatgcta	9	16	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:19338930C>T	uc002nlz.2	+	8	2600	c.2501C>T	c.(2500-2502)ACG>ATG	p.T834M	NCAN_uc010ecc.1_Missense_Mutation_p.T398M	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	834					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			TCCACAGTCACGCCGGCCCCC	0.547													T	19338930	C	T	19338930	3	4	37	1	0	0	0	0	1	0	0	0	10204	536	19	1	2527	1	NCAN	19	19338930	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1888562	19338930	39790053	997	35062											
NCAN	1463	broad.mit.edu	37	chr19	19339050	19339050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcattgtgacgcccctcaCgaccctggagcagggggaca	13	13	1	1	rs148196919		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:19339050C>T	uc002nlz.2	+	8	2720	c.2621C>T	c.(2620-2622)ACG>ATG	p.T874M	NCAN_uc010ecc.1_Missense_Mutation_p.T438M	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	874					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			ACGCCCCTCACGACCCTGGAG	0.587													T	19339050	C	T	19339050	3	4	37	1	0	0	0	0	1	0	0	0	10204	536	19	1	2647	1	NCAN	19	19339050	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	120	19339050	39789933	998	35063											
HAPLN4	404037	broad.mit.edu	37	chr19	19371869	19371869	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttgagccggacgccgtcGtgaccgtgggcggctgcctc	15	15	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:19371869G>A	uc002nmb.2	-	3	292	c.237C>T	c.(235-237)CAC>CAT	p.H79H	HAPLN4_uc002nmc.2_Silent_p.H79H	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	79	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)			GGACGCCGTCGTGACCGTGGG	0.662													A	19371869	G	A	19371869	2	1	37	1	0	0	0	0	0	0	0	1	6957	1136	40	1		1	HAPLN4	19	19371869	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	32819	19371869	39757114	999	35064											
CILP2	148113	broad.mit.edu	37	chr19	19656297	19656297	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccggagtgtgcgagacccCgagcgtccgggcacctcggc	16	16	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:19656297C>T	uc002nmv.3	+	8	3028	c.2943C>T	c.(2941-2943)CCC>CCT	p.P981P	CILP2_uc002nmw.3_Silent_p.P987P	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	981						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						TGCGAGACCCCGAGCGTCCGG	0.677													T	19656297	C	T	19656297	2	4	37	1	0	0	0	0	0	0	0	1	3430	639	23	1		1	CILP2	19	19656297	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	284428	19656297	39472686	1000	35065											
ATP13A1	57130	broad.mit.edu	37	chr19	19766902	19766902	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctgtggggggatgtgctGcaccaccttggtgcccccga	14	12	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:19766902G>A	uc002nnh.3	-	8	1202	c.1174C>T	c.(1174-1176)CAG>TAG	p.Q392*	ATP13A1_uc002nnf.3_5'Flank|ATP13A1_uc002nng.2_Nonsense_Mutation_p.Q274*	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	392	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						GGGATGTGCTGCACCACCTTG	0.652													A	19766902	G	A	19766902	4	1	37	1	0	0	0	0	0	1	0	0	1123	1328	46	2	2516	2	ATP13A1	19	19766902	Nonsense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	110605	19766902	39362081	1001	35066											
ZNF253	56242	broad.mit.edu	37	chr19	20002841	20002841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacaaatgtgaagaatgtgGcaaagccttcaaccgatcca	8	10	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:20002841G>A	uc002noj.2	+	4	877	c.785G>A	c.(784-786)GGC>GAC	p.G262D	ZNF253_uc002nok.2_Missense_Mutation_p.G186D|ZNF253_uc002nol.2_RNA	NM_021047	NP_066385	O75346	ZN253_HUMAN	zinc finger protein 253	262	C2H2-type 4.			Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAAGAATGTGGCAAAGCCTTC	0.403													A	20002841	G	A	20002841	3	1	37	1	0	0	0	0	1	0	0	0	17794	1203	42	2	799	2	ZNF253	19	20002841	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	235939	20002841	39126142	1002	35067											
ZNF43	7594	broad.mit.edu	37	chr19	21992087	21992087	+	Frame_Shift_Del	DEL	T	T	-													agagtttgtatctagtataaTtttttttatgtgtagtaagg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:21992086_21992086AT>A	uc002nqj.3	-	3	883	c.753_753AT>T	c.(751-753)aatfs	p.N251fs	ZNF43_uc002nql.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqm.3_Frame_Shift_Del_p.N245fs|ZNF43_uc010ecv.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqk.3_Frame_Shift_Del_p.N181fs	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATCTAGTATAATTTTTTTTAT	0.348													-	21992087	T	-	21992087	7	5	37	1	0	1	0	1	0	0	0	0	17900	1493	52	0	1681	0	ZNF43	19	21992087	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	1989246	21992087	37136896	1003	35068											
TSHZ3	57616	broad.mit.edu	37	chr19	31769867	31769867	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggagtggccacagtacaTgcacttcagcaccttctggg	11	11	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:31769867T>C	uc002nsy.3	-	2	897	c.832A>G	c.(832-834)ATG>GTG	p.M278V		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	278	C2H2-type 2.				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					CCACAGTACATGCACTTCAGC	0.512													C	31769867	T	C	31769867	3	2	37	1	0	0	0	0	1	0	0	0	16622	1464	51	3	2417	3	TSHZ3	19	31769867	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	9777780	31769867	27359116	1004	35069											
ZNF181	339318	broad.mit.edu	37	chr19	35232234	35232234	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccatcagagcactcacacTggagagaaaccatatgaatg	8	10	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:35232234T>G	uc002nvu.3	+	4	1411	c.948T>G	c.(946-948)ACT>ACG	p.T316T	ZNF181_uc010xsa.1_Silent_p.T315T|ZNF181_uc010xsb.1_Silent_p.T315T|ZNF181_uc010xsc.1_Silent_p.T251T	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	zinc finger protein 181 isoform 1	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GCACTCACACTGGAGAGAAAC	0.383													G	35232234	T	G	35232234	2	3	37	1	0	0	0	0	0	0	0	1	17746	1567	55	5		5	ZNF181	19	35232234	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	3462367	35232234	23896749	1005	35070											
ZNF30	90075	broad.mit.edu	37	chr19	35434229	35434229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataagtagacagaaaccacGtgaatgtcaggaatatggaa	10	5	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:35434229G>A	uc010edp.1	+	5	737	c.359G>A	c.(358-360)CGT>CAT	p.R120H	ZNF30_uc002nxf.2_Missense_Mutation_p.R39H|ZNF30_uc010edq.1_Missense_Mutation_p.R121H|ZNF30_uc010edr.1_Missense_Mutation_p.R121H	NM_194325	NP_919306	P17039	ZNF30_HUMAN	zinc finger protein 30 isoform b	120	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CAGAAACCACGTGAATGTCAG	0.383													A	35434229	G	A	35434229	3	1	37	1	0	0	0	0	1	0	0	0	17827	1145	40	1	376	1	ZNF30	19	35434229	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	201995	35434229	23694754	1006	35071											
GRAMD1A	57655	broad.mit.edu	37	chr19	35500086	35500086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctccggaaacggctgcaGctcctgcccccaagccggcc	11	19	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:35500086G>A	uc010xse.1	+	2	209	c.72G>A	c.(70-72)CAG>CAA	p.Q24Q	GRAMD1A_uc002nxi.1_Silent_p.Q111Q|GRAMD1A_uc002nxk.2_Silent_p.Q24Q|GRAMD1A_uc002nxl.2_5'UTR|GRAMD1A_uc010xsf.1_Silent_p.Q29Q	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	24						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AACGGCTGCAGCTCCTGCCCC	0.642													A	35500086	G	A	35500086	2	1	37	1	0	0	0	0	0	0	0	1	6747	962	34	2		2	GRAMD1A	19	35500086	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	65857	35500086	23628897	1007	35072											
ATP4A	495	broad.mit.edu	37	chr19	36046105	36046105	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaatggaggcaaagttgtcAtccagcaggatcatgtcagc	11	9	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:36046105A>G	uc002oal.1	-	15	2318	c.2289T>C	c.(2287-2289)GAT>GAC	p.D763D	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	763	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CAAAGTTGTCATCCAGCAGGA	0.597													G	36046105	A	G	36046105	2	3	37	1	0	0	0	0	0	0	0	1	1145	214	8	3		3	ATP4A	19	36046105	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	546019	36046105	23082878	1008	35073											
ATP4A	495	broad.mit.edu	37	chr19	36050029	36050029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagcccaatgtctccaccGcctccaggttcttgaccacg	9	16	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:36050029G>A	uc002oal.1	-	8	1150	c.1121C>T	c.(1120-1122)GCG>GTG	p.A374V	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	374	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TGTCTCCACCGCCTCCAGGTT	0.602													A	36050029	G	A	36050029	3	1	37	1	0	0	0	0	1	0	0	0	1145	1087	38	1	2046	1	ATP4A	19	36050029	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3924	36050029	23078954	1009	35074											
ZBTB32	27033	broad.mit.edu	37	chr19	36207582	36207582	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatggaccatccgctccacCttcctctactcctcctcgag	7	18	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:36207582C>A	uc002oay.2	+	6	1602	c.1392C>A	c.(1390-1392)ACC>ACA	p.T464T	ZBTB32_uc002oaz.2_RNA|MLL4_uc010eei.2_5'Flank	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	464					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			ovary(1)|skin(1)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCGCTCCACCTTCCTCTACT	0.672											OREG0025433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	36207582	C	A	36207582	2	1	37	1	0	0	0	0	0	0	0	1	17532	668	24	5		5	ZBTB32	19	36207582	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	157553	36207582	22921401	1010	35075											
MLL2	8085	broad.mit.edu	37	chr19	36218451	36218451	+	Frame_Shift_Del	DEL	G	G	-													gccctgagcggggccctccaGgggggcctgcgccaggtgct					rs34078597		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:36218450_36218450AG>A	uc021usv.1	+	15	4229	c.4229_4229AG>A	c.(4228-4230)cagfs	p.Q1410fs	MLL2_uc021usu.1_Frame_Shift_Del_p.Q224fs	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	0	Cys-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGGGCCCTCCAGGGGGGCCTG	0.706			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	36218451	G	-	36218451	7	5	37	1	0	1	0	1	0	0	0	0	9621	991	35	0		0	MLL2	19	36218451	Frame_Shift_Del	DEL	G	TCGA-BR-6566-01A-11D-1800-08	10869	36218451	22910532	1011	35076											
KIRREL2	84063	broad.mit.edu	37	chr19	36349618	36349618	+	Frame_Shift_Del	DEL	C	C	-													ccttgcagtccccccagaagCcccccaggtgctgggcggcc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:36349617_36349617GC>G	uc002ocb.4	+	3	585	c.373_373GC>G	c.(373-375)gccfs	p.A125fs	KIRREL2_uc002obz.4_Frame_Shift_Del_p.A125fs|KIRREL2_uc002oca.4_Frame_Shift_Del_p.A75fs|KIRREL2_uc002ocd.4_Frame_Shift_Del_p.A122fs	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	125	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCCCCAGAAGCCCCCCAGGT	0.617													-	36349618	C	-	36349618	7	5	37	1	0	1	0	1	0	0	0	0	8325	739	26	0	388	0	KIRREL2	19	36349618	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	131167	36349618	22779365	1012	35077											
CLIP3	25999	broad.mit.edu	37	chr19	36510151	36510151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggttcgtccagctccaCgcccacccactggccgctgg	10	19	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:36510151C>T	uc010eeq.1	-	7	1258	c.976G>A	c.(976-978)GTG>ATG	p.V326M	uc002ocy.2_Missense_Mutation_p.R22C|CLIP3_uc002ocz.1_Missense_Mutation_p.V326M	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	326	CAP-Gly 1.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCAGCTCCACGCCCACCCAC	0.637													T	36510151	C	T	36510151	3	4	37	1	0	0	0	0	1	0	0	0	3534	536	19	1	695	1	CLIP3	19	36510151	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	160533	36510151	22618832	1013	35078											
ZNF571	51276	broad.mit.edu	37	chr19	38057129	38057129	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccatattctcccactggagTgattccatttcataaatttc	4	12	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:38057129T>C	uc002ogt.2	-	4	302	c.201A>G	c.(199-201)TCA>TCG	p.S67S	uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Silent_p.S67S	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCACTGGAGTGATTCCATTT	0.388													C	38057129	T	C	38057129	2	2	37	1	0	0	0	0	0	0	0	1	18000	1683	59	3		3	ZNF571	19	38057129	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	1546978	38057129	21071854	1014	35079											
PAF1	54623	broad.mit.edu	37	chr19	39880926	39880926	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcagagtccggtgggaattGggcctagtggagaagaaaga	18	5	0	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:39880926G>T	uc002old.2	-	2	226	c.51C>A	c.(49-51)CCC>CCA	p.P17P	PAF1_uc002ole.1_Intron|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor,	17					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			pancreas(1)	1	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GGTGGGAATTGGGCCTAGTGG	0.592													T	39880926	G	T	39880926	2	4	37	1	0	0	0	0	0	0	0	1	11383	1335	47	5		5	PAF1	19	39880926	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1823797	39880926	19248057	1015	35080											
FBL	2091	broad.mit.edu	37	chr19	40328363	40328363	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccctcaccgatgagcatgcGgtatttgtgtgggtgtcgag	14	10	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:40328363G>T	uc002omn.2	-	6	784	c.670C>A	c.(670-672)CGC>AGC	p.R224S	FBL_uc002omm.1_Missense_Mutation_p.R138S|FBL_uc002omo.2_Missense_Mutation_p.R223S	NM_001436	NP_001427	P22087	FBRL_HUMAN	fibrillarin	224					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			ovary(1)	1	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		ATGAGCATGCGGTATTTGTGT	0.587													T	40328363	G	T	40328363	3	4	37	1	0	0	0	0	1	0	0	0	5696	1116	39	5	311	5	FBL	19	40328363	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	447437	40328363	18800620	1016	35081											
BCKDHA	593	broad.mit.edu	37	chr19	41916544	41916544	+	Splice_Site	DEL	C	C	-													ctctgctctcttccccagcaCccccccaggcagcagcagca							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:41916543_41916543AC>A	uc002oqq.3	+	2	148	c.109_splice	c.e2-1	p.H37_splice	BCKDHA_uc002oqm.4_Splice_Site_p.H71_splice|BCKDHA_uc002oqp.2_Splice_Site|BCKDHA_uc002oqr.3_Splice_Site_p.H37_splice|BCKDHA_uc010xvz.2_Intron	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	37					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CTTCCCCAGCACCCCCCCAGG	0.612													-	41916544	C	-	41916544	8	5	37	1	0	1	0	1	0	0	1	0	1359	506	18	0	117	0	BCKDHA	19	41916544	Splice_Site	DEL	C	TCGA-BR-6566-01A-11D-1800-08	1588181	41916544	17212439	1017	35082											
BCKDHA	593	broad.mit.edu	37	chr19	41929040	41929042	+	In_Frame_Del	DEL	AGG	AGG	-													aggctggtgggatgaggagcAggagaaggcctggaggaagc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:41929040_41929042delAGG	uc002oqq.2	+	8	1162_1164	c.1133_1135delAGG	c.(1132-1137)CAGGAG>CAG	p.E379del	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_In_Frame_Del_p.E413del|BCKDHA_uc002oqr.2_In_Frame_Del_p.E378del|BCKDHA_uc010xvz.1_In_Frame_Del_p.E382del	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	379					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0						GATGAGGAGCAGGAGAAGGCCTG	0.635													-	41929042	AGG	-	41929040	7	5	37	1	0	1	0	1	0	0	0	0	1359	188	7	0	1163	0	BCKDHA	19	41929040	In_Frame_Del	DEL	AGG	TCGA-BR-6566-01A-11D-1800-08	12496	41929040	17199943	1018	35083											
ATP1A3	478	broad.mit.edu	37	chr19	42489310	42489310	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatgacagtgcggtcgccCgtggccaccaccacgccccg	11	20	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:42489310C>T	uc002osg.2	-	8	907	c.753G>A	c.(751-753)ACG>ACA	p.T251T	ATP1A3_uc010xwf.1_Silent_p.T262T|ATP1A3_uc010xwg.1_Silent_p.T221T|ATP1A3_uc010xwh.1_Silent_p.T264T|ATP1A3_uc002osh.2_Silent_p.T251T	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	251	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						TGCGGTCGCCCGTGGCCACCA	0.672													T	42489310	C	T	42489310	2	4	37	1	0	0	0	0	0	0	0	1	1130	639	23	1		1	ATP1A3	19	42489310	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	560270	42489310	16639673	1019	35084											
GRIK5	2901	broad.mit.edu	37	chr19	42560855	42560855	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcacagttctccctccAggacatgttgaggctgcgga	12	12	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:42560855A>G	uc002osj.1	-	7	897	c.862T>C	c.(862-864)TGG>CGG	p.W288R	GRIK5_uc010eib.1_Missense_Mutation_p.W207R	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	288	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	TTCTCCCTCCAGGACATGTTG	0.502													G	42560855	A	G	42560855	3	3	37	1	0	0	0	0	1	0	0	0	6777	188	7	3	2132	3	GRIK5	19	42560855	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	71545	42560855	16568128	1020	35085											
MEGF8	1954	broad.mit.edu	37	chr19	42838298	42838298	+	Frame_Shift_Del	DEL	G	G	-													gtgtgcctgcgagccgggctGggggggtcctgactgtggcc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:42838297_42838297TG>T	uc002otl.4	+	2	1125	c.490_490TG>T	c.(490-492)tggfs	p.W164fs	MEGF8_uc002otm.4_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	164	EGF-like 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CGAGCCGGGCTGGGGGGGTCC	0.701													-	42838298	G	-	42838298	7	5	37	1	0	1	0	1	0	0	0	0	9463	1357	47	0	501	0	MEGF8	19	42838298	Frame_Shift_Del	DEL	G	TCGA-BR-6566-01A-11D-1800-08	277443	42838298	16290685	1021	35086											
ZNF224	7767	broad.mit.edu	37	chr19	44610781	44610781	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaatggatataaaccatcCttcagtgatgtctcccactt	7	11	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:44610781C>A	uc002oyh.1	+	6	770	c.468C>A	c.(466-468)TCC>TCA	p.S156S	uc002oyi.2_RNA	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	156					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				ATAAACCATCCTTCAGTGATG	0.418													A	44610781	C	A	44610781	2	1	37	1	0	0	0	0	0	0	0	1	17775	668	24	5		5	ZNF224	19	44610781	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1772483	44610781	14518202	1022	35087											
ZNF224	7767	broad.mit.edu	37	chr19	44611657	44611657	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcttgactttcaccagcgCgtccatacaggagagaaact	9	11	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:44611657C>T	uc002oyh.1	+	6	1646	c.1344C>T	c.(1342-1344)CGC>CGT	p.R448R	uc002oyi.2_RNA	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	448	C2H2-type 10.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				TTCACCAGCGCGTCCATACAG	0.463													T	44611657	C	T	44611657	2	4	37	1	0	0	0	0	0	0	0	1	17775	755	27	1		1	ZNF224	19	44611657	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	876	44611657	14517326	1023	35088											
BCL3	602	broad.mit.edu	37	chr19	45262726	45262726	+	Frame_Shift_Del	DEL	C	C	-													cctcctcaccctcccagtctCcccccagggacccccctgga							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:45262725_45262725TC>T	uc010xxe.2	+	8	1288	c.1218_1218TC>T	c.(1216-1218)tctfs	p.S406fs		NM_005178	NP_005169	P20749	BCL3_HUMAN	Homo sapiens B-cell CLL/lymphoma 3 (BCL3), mRNA.	406	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CCTCCCAGTCTCCCCCCAGGG	0.627			T	IGH@	CLL								-	45262726	C	-	45262726	7	5	37	1	0	1	0	1	0	0	0	0	1375	855	30	0	1253	0	BCL3	19	45262726	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	651069	45262726	13866257	1024	35089											
PPM1N	147699	broad.mit.edu	37	chr19	46002426	46002426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctggccgtgtcgcgagcGttgggcgactttacctacaa	12	12	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:46002426G>A	uc002pce.2	+	1	696	c.696G>A	c.(694-696)GCG>GCA	p.A232A	RTN2_uc002pcb.2_5'Flank|RTN2_uc002pcc.2_5'Flank|RTN2_uc002pcd.2_5'Flank|PPM1N_uc002pcf.2_5'Flank	NM_001080401	NP_001073870	Q8N819	PPM1N_HUMAN	protein phosphatase 1B-like	232	PP2C-like.						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity				0						TGTCGCGAGCGTTGGGCGACT	0.721													A	46002426	G	A	46002426	2	1	37	1	0	0	0	0	0	0	0	1	12346	1132	40	1		1	PPM1N	19	46002426	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	739700	46002426	13126557	1025	35090											
OPA3	80207	broad.mit.edu	37	chr19	46032599	46032599	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcggtgatgaagatgatgccCtcgcccagcagctccgcgcc	13	15	0	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:46032599C>A	uc002pcj.3	-	2	358	c.258G>T	c.(256-258)GAG>GAT	p.E86D		NM_001017989	NP_001017989	Q9H6K4	OPA3_HUMAN	OPA3 protein isoform a	86					response to stimulus|visual perception	mitochondrion					0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		AGATGATGCCCTCGCCCAGCA	0.627													A	46032599	C	A	46032599	3	1	37	1	0	0	0	0	1	0	0	0	10872	680	24	5	288	5	OPA3	19	46032599	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	30173	46032599	13096384	1026	35091											
SNRPD2	6633	broad.mit.edu	37	chr19	46190822	46190822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcggcccctacttgccggCgatgagcgggttccgcagga	16	13	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:46190822C>T	uc002pcw.2	-	3	643	c.346G>A	c.(346-348)GCC>ACC	p.A116T	SNRPD2_uc002pcv.2_Missense_Mutation_p.A106T	NM_004597	NP_004588	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 isoform 1	116					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding				0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		TACTTGCCGGCGATGAGCGGG	0.532													T	46190822	C	T	46190822	3	4	37	1	0	0	0	0	1	0	0	0	14865	768	27	1	14	1	SNRPD2	19	46190822	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	158223	46190822	12938161	1027	35092											
FBXO46	23403	broad.mit.edu	37	chr19	46216383	46216383	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttggagctatcgctgcccCagtgccccttgaccttcatg	9	16	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:46216383C>A	uc002pcy.2	-	2	496	c.371G>T	c.(370-372)TGG>TTG	p.W124L	FBXO46_uc002pcz.2_Missense_Mutation_p.W124L	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	124							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		ATCGCTGCCCCAGTGCCCCTT	0.667													A	46216383	C	A	46216383	3	1	37	1	0	0	0	0	1	0	0	0	5755	595	21	5	1444	5	FBXO46	19	46216383	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	25561	46216383	12912600	1028	35093											
PPP5C	5536	broad.mit.edu	37	chr19	46891936	46891936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtcaaggccgagggctacGaggtggctcacggaggccgc	17	11	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:46891936G>A	uc002pem.2	+	11	1363	c.1303G>A	c.(1303-1305)GAG>AAG	p.E435K	PPP5C_uc010xya.1_Missense_Mutation_p.E302K|PPP5C_uc002pen.2_Missense_Mutation_p.E413K	NM_006247	NP_006238	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	435	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			lung(1)|pancreas(1)	2		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CGAGGGCTACGAGGTGGCTCA	0.582													A	46891936	G	A	46891936	3	1	37	1	0	0	0	0	1	0	0	0	12406	1059	37	1	1345	1	PPP5C	19	46891936	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	675553	46891936	12237047	1029	35094											
PRMT1	3276	broad.mit.edu	37	chr19	50185181	50185181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctaggagatgctgaaggaCgaggtgcgcaccctcactta	12	12	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:50185181C>T	uc010enf.1	+	4	249	c.207C>T	c.(205-207)GAC>GAT	p.D69D	PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Silent_p.D45D|PRMT1_uc002ppe.2_Silent_p.D51D|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Silent_p.D16D|PRMT1_uc010yba.1_RNA	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	HMT1 hnRNP methyltransferase-like 2 isoform 1	50						cytoplasm	protein methyltransferase activity			ovary(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		TGCTGAAGGACGAGGTGCGCA	0.612													T	50185181	C	T	50185181	2	4	37	1	0	0	0	0	0	0	0	1	12535	535	19	1		1	PRMT1	19	50185181	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3293245	50185181	8943802	1030	35095											
PTOV1	53635	broad.mit.edu	37	chr19	50360274	50360274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatctccccctgtgaggtgCgcgtgctcatgctcctgtac	10	15	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:50360274C>T	uc002pqf.1	+	6	771	c.601C>T	c.(601-603)CGC>TGC	p.R201C	PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Missense_Mutation_p.R169C|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	201	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CTGTGAGGTGCGCGTGCTCAT	0.657													T	50360274	C	T	50360274	3	4	37	1	0	0	0	0	1	0	0	0	12769	768	27	1	623	1	PTOV1	19	50360274	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	175093	50360274	8768709	1031	35096											
PTOV1	53635	broad.mit.edu	37	chr19	50363330	50363330	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagaagaaaatcttcattGgcctcatcccccatgaccag	7	13	3	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:50363330G>T	uc002pqf.1	+	11	1299	c.1129G>T	c.(1129-1131)GGC>TGC	p.G377C	PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Missense_Mutation_p.L321F|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	377	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		AATCTTCATTGGCCTCATCCC	0.562													T	50363330	G	T	50363330	3	4	37	1	0	0	0	0	1	0	0	0	12769	1348	47	5	1171	5	PTOV1	19	50363330	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3056	50363330	8765653	1032	35097											
TBC1D17	79735	broad.mit.edu	37	chr19	50384662	50384662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctggaggttccctgcccGcactgcacttccaccgcggg	13	16	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:50384662G>A	uc002pqo.2	+	5	609	c.457G>A	c.(457-459)GCA>ACA	p.A153T	TBC1D17_uc010enn.1_RNA|TBC1D17_uc010ybg.1_Missense_Mutation_p.A120T|TBC1D17_uc002pqp.2_5'UTR|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_5'UTR|TBC1D17_uc002pqs.2_5'Flank	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	153						intracellular	Rab GTPase activator activity				0		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TTCCCTGCCCGCACTGCACTT	0.667													A	50384662	G	A	50384662	3	1	37	1	0	0	0	0	1	0	0	0	15603	1087	38	1	475	1	TBC1D17	19	50384662	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	21332	50384662	8744321	1033	35098											
ZNF473	25888	broad.mit.edu	37	chr19	50549654	50549654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttaaatgtaacgaatgcGgaaagaccttcagccacagt	8	9	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:50549654G>A	uc002prn.2	+	5	2191	c.1954G>A	c.(1954-1956)GGA>AGA	p.G652R	ZNF473_uc002prm.2_Missense_Mutation_p.G652R|ZNF473_uc010ybo.1_Missense_Mutation_p.G640R	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	652	C2H2-type 13.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TAACGAATGCGGAAAGACCTT	0.453													A	50549654	G	A	50549654	3	1	37	1	0	0	0	0	1	0	0	0	17928	1117	39	1	1968	1	ZNF473	19	50549654	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	164992	50549654	8579329	1034	35099											
LRRC4B	94030	broad.mit.edu	37	chr19	51021694	51021694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgtgtcctgcacggtgaCgttggtgaagttaagcgtgc	15	10	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:51021694C>T	uc002pss.2	-	3	1413	c.1276G>A	c.(1276-1278)GTC>ATC	p.V426I		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	426	Extracellular (Potential).|Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGCACGGTGACGTTGGTGAAG	0.647													T	51021694	C	T	51021694	3	4	37	1	0	0	0	0	1	0	0	0	9007	536	19	1	869	1	LRRC4B	19	51021694	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	472040	51021694	8107289	1035	35100											
KLK9	284366	broad.mit.edu	37	chr19	51506431	51506431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctggtgtagactgcggggCgccggggtctggagcagggc	21	10	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:51506431C>T	uc002pux.1	-	5	776	c.689G>A	c.(688-690)CGC>CAC	p.R230H	KLK9_uc002puw.1_RNA|KLK9_uc010eol.1_Missense_Mutation_p.R201H|KLK8_uc002puq.1_5'Flank|KLK8_uc002pur.1_5'Flank|KLK8_uc002pus.1_5'Flank|KLK8_uc002put.1_5'Flank|KLK8_uc002puu.1_5'UTR|KLK9_uc002puv.1_RNA	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9 precursor	230	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GACTGCGGGGCGCCGGGGTCT	0.627													T	51506431	C	T	51506431	3	4	37	1	0	0	0	0	1	0	0	0	8411	768	27	1	67	1	KLK9	19	51506431	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	484737	51506431	7622552	1036	35101											
C19orf75	284369	broad.mit.edu	37	chr19	51769106	51769106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgcgggaattgtaattgCgctgctcttcctctgcctcc	9	13	2	0	rs149546733		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:51769106C>T	uc002pwb.1	+	4	761	c.380C>T	c.(379-381)GCG>GTG	p.A127V	C19orf75_uc010eov.1_RNA|C19orf75_uc010ycw.1_Missense_Mutation_p.A33V	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	hypothetical protein LOC284369	127	Helical; (Potential).					integral to membrane				ovary(1)|pancreas(1)	2						ATTGTAATTGCGCTGCTCTTC	0.418													T	51769106	C	T	51769106	3	4	37	1	0	0	0	0	1	0	0	0	1949	768	27	1	390	1	C19orf75	19	51769106	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	262675	51769106	7359877	1037	35102											
NKG7	4818	broad.mit.edu	37	chr19	51875430	51875430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacctgcagcaaaggctgCggtggttgagacaagcgggc	15	10	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:51875430C>T	uc002pwj.2	-	2	460	c.289G>A	c.(289-291)GCA>ACA	p.A97T	NKG7_uc002pwk.2_Missense_Mutation_p.A62T	NM_005601	NP_005592	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	97	Helical; (Potential).					integral to plasma membrane				central_nervous_system(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCAAAGGCTGCGGTGGTTGAG	0.622													T	51875430	C	T	51875430	3	4	37	1	0	0	0	0	1	0	0	0	10443	768	27	1	220	1	NKG7	19	51875430	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	106324	51875430	7253553	1038	35103											
PPP2R1A	5518	broad.mit.edu	37	chr19	52719794	52719794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctcccaggagctggtgtccGatgccaaccaacatgtcaag	10	13	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:52719794G>A	uc002pyp.2	+	9	1165	c.1006G>A	c.(1006-1008)GAT>AAT	p.D336N	PPP2R1A_uc010ydk.1_Missense_Mutation_p.D281N|PPP2R1A_uc010epm.1_Missense_Mutation_p.D376N|PPP2R1A_uc002pyq.2_Missense_Mutation_p.D157N	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	336	PP2A subunit B binding.|HEAT 9.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GCTGGTGTCCGATGCCAACCA	0.557			Mis		clear cell ovarian carcinoma								A	52719794	G	A	52719794	3	1	37	1	0	0	0	0	1	0	0	0	12382	1058	37	1	1040	1	PPP2R1A	19	52719794	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	844364	52719794	6409189	1039	35104											
ZNF468	90333	broad.mit.edu	37	chr19	53344851	53344851	+	Frame_Shift_Del	DEL	T	T	-													tctaagtgaattatctgatgTttttttaagagtgagctgca							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:53344850_53344850GT>G	uc002qaf.3	-	3	848	c.697_697AC>C	c.(697-699)catfs	p.H233fs	ZNF468_uc002qae.3_Frame_Shift_Del_p.H180fs|ZNF468_uc021uzb.1_Frame_Shift_Del_p.H180fs	NM_001008801	NP_954583	Q5VIY5	ZN468_HUMAN	Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2, mRNA.	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		ATTATCTGATGTTTTTTTAAG	0.353													-	53344851	T	-	53344851	7	5	37	1	0	1	0	1	0	0	0	0	17925	1722	60	0	876	0	ZNF468	19	53344851	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	625057	53344851	5784132	1040	35105											
ZNF320	162967	broad.mit.edu	37	chr19	53384761	53384761	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctgtgaattctagtatgTtttgccaggtgtgaatcatg	10	8	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:53384761T>G	uc002qag.2	-	4	809	c.618A>C	c.(616-618)AAA>AAC	p.K206N	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.K152N|ZNF320_uc002qai.2_Missense_Mutation_p.K206N	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	206	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		TTCTAGTATGTTTTGCCAGGT	0.363													G	53384761	T	G	53384761	3	3	37	1	0	0	0	0	1	0	0	0	17836	1722	60	5	915	5	ZNF320	19	53384761	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	39910	53384761	5744222	1041	35106											
ZNF347	84671	broad.mit.edu	37	chr19	53644779	53644779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaacaccaaaggctttgccGcactcattacacttgtaagg	8	12	1	0	rs77716783	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:53644779G>A	uc002qbb.1	-	5	1371	c.1302C>T	c.(1300-1302)TGC>TGT	p.C434C	ZNF347_uc010eql.1_Silent_p.C435C|ZNF347_uc002qbc.1_Silent_p.C435C	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	434	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		AGGCTTTGCCGCACTCATTAC	0.423													A	53644779	G	A	53644779	2	1	37	1	0	0	0	0	0	0	0	1	17858	1079	38	1		1	ZNF347	19	53644779	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	260018	53644779	5484204	1042	35107											
LENG1	79165	broad.mit.edu	37	chr19	54660650	54660650	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcatctggggctgggccGggcggggggccccctcgccc	17	16	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:54660650G>A	uc002qdm.2	-	3	439	c.426C>T	c.(424-426)CCC>CCT	p.P142P		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	142										ovary(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGGCTGGGCCGGGCGGGGGGC	0.642													A	54660650	G	A	54660650	2	1	37	1	0	0	0	0	0	0	0	1	8723	1103	39	1		1	LENG1	19	54660650	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1015871	54660650	4468333	1043	35108											
RPS9	6203	broad.mit.edu	37	chr19	54710190	54710190	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcattggggtgctggatgaGggcaagatgaagctggatta	17	5	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:54710190G>T	uc002qdx.2	+	4	323	c.267G>T	c.(265-267)GAG>GAT	p.E89D	RPS9_uc002qdy.2_Intron|RPS9_uc002qdz.2_Missense_Mutation_p.E89D|RPS9_uc002qea.2_Missense_Mutation_p.E89D|RPS9_uc002qeb.2_Missense_Mutation_p.E89D|RPS9_uc002qec.2_RNA|RPS9_uc002qed.1_Missense_Mutation_p.E89D	NM_001013	NP_001004	P46781	RS9_HUMAN	ribosomal protein S9	89					endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity			breast(1)	1	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		TGCTGGATGAGGGCAAGATGA	0.522													T	54710190	G	T	54710190	3	4	37	1	0	0	0	0	1	0	0	0	13662	991	35	5	277	5	RPS9	19	54710190	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	49540	54710190	4418793	1044	35109											
SUV420H2	84787	broad.mit.edu	37	chr19	55855161	55855161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatcatgtactcaacccGcaagcggagtgctcagctgt	10	13	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:55855161G>A	uc002qkj.3	+	5	748	c.500G>A	c.(499-501)CGC>CAC	p.R167H	SUV420H2_uc002qkl.2_Missense_Mutation_p.R52H	NM_032701	NP_116090	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2	167	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding				0	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TACTCAACCCGCAAGCGGAGT	0.632													A	55855161	G	A	55855161	3	1	37	1	0	0	0	0	1	0	0	0	15412	1087	38	1	514	1	SUV420H2	19	55855161	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1144971	55855161	3273822	1045	35110											
ZNF628	89887	broad.mit.edu	37	chr19	55994109	55994109	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacctgtggccagtgcggcCtcaccttcaagtggtcgtcc	11	15	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:55994109C>A	uc002qld.2	+	3	2102	c.1537C>A	c.(1537-1539)CTC>ATC	p.L513I	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	513	C2H2-type 12.					nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCAGTGCGGCCTCACCTTCAA	0.682													A	55994109	C	A	55994109	3	1	37	1	0	0	0	0	1	0	0	0	18049	681	24	5	1539	5	ZNF628	19	55994109	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	138948	55994109	3134874	1046	35111											
CCDC106	29903	broad.mit.edu	37	chr19	56163822	56163822	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgccgacggggtcctctgcCggtacaagaagatcctgggc	14	13	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:56163822C>A	uc002qlr.2	+	6	1288	c.553C>A	c.(553-555)CGG>AGG	p.R185R	CCDC106_uc002qls.2_Silent_p.R185R|U2AF2_uc002qlt.2_5'Flank|U2AF2_uc002qlu.2_5'Flank	NM_013301	NP_037433	Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	185						nucleus					0		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GGTCCTCTGCCGGTACAAGAA	0.652													A	56163822	C	A	56163822	2	1	37	1	0	0	0	0	0	0	0	1	2741	643	23	5		5	CCDC106	19	56163822	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	169713	56163822	2965161	1047	35112											
NLRP13	126204	broad.mit.edu	37	chr19	56423266	56423266	+	Frame_Shift_Del	DEL	A	A	-													tgggactcgtgtaggcagtgAaaaagtcgtagaatgtgaaa							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:56423265_56423265GA>G	uc010ygg.2	-	4	1943	c.1918_1918TC>C	c.(1918-1920)cacfs	p.H640fs		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	640							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGTAGGCAGTGAAAAAGTCGT	0.423													-	56423266	A	-	56423266	7	5	37	1	0	1	0	1	0	0	0	0	10475	243	9	0	1240	0	NLRP13	19	56423266	Frame_Shift_Del	DEL	A	TCGA-BR-6566-01A-11D-1800-08	259444	56423266	2705717	1048	35113											
NLRP5	126206	broad.mit.edu	37	chr19	56549538	56549538	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgatgccttgagagtctcCcagtgcgccctgcagaagct	12	12	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:56549538C>T	uc002qmj.2	+	10	2763	c.2763C>T	c.(2761-2763)TCC>TCT	p.S921S	NLRP5_uc002qmi.2_Silent_p.S902S	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	921						mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGAGAGTCTCCCAGTGCGCCC	0.517													T	56549538	C	T	56549538	2	4	37	1	0	0	0	0	0	0	0	1	10480	610	22	4		4	NLRP5	19	56549538	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	126272	56549538	2579445	1049	35114											
ZNF787	126208	broad.mit.edu	37	chr19	56600242	56600242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctctgcgagaaggtcttgCcgcagtcggcgcaggcgttg	16	11	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:56600242C>T	uc010eth.1	-	3	418	c.299G>A	c.(298-300)GGC>GAC	p.G100D		NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	100	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GAAGGTCTTGCCGCAGTCGGC	0.667													T	56600242	C	T	56600242	3	4	37	1	0	0	0	0	1	0	0	0	18156	739	26	2	856	2	ZNF787	19	56600242	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	50704	56600242	2528741	1050	35115											
ZSCAN5A	79149	broad.mit.edu	37	chr19	56733037	56733037	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttggaacatttgtagggTttctctccggagtggatgcg	13	8	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:56733037T>G	uc002qmq.2	-	5	1564	c.1398A>C	c.(1396-1398)AAA>AAC	p.K466N	ZSCAN5A_uc010ygi.1_Missense_Mutation_p.K349N|ZSCAN5A_uc002qmr.2_Missense_Mutation_p.K466N|ZSCAN5A_uc002qms.1_Missense_Mutation_p.K465N	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	466					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						ATTTGTAGGGTTTCTCTCCGG	0.498													G	56733037	T	G	56733037	3	3	37	1	0	0	0	0	1	0	0	0	18235	1722	60	5	96	5	ZSCAN5A	19	56733037	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	132795	56733037	2395946	1051	35116											
ZNF667	63934	broad.mit.edu	37	chr19	56953014	56953014	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgattggcggccgaaaacTttactacatttattgcattt	7	7	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:56953014T>G	uc002qnd.2	-	5	1512	c.1350A>C	c.(1348-1350)AAA>AAC	p.K450N	ZNF667_uc010etl.2_Missense_Mutation_p.K232N|ZNF667_uc002qne.2_Missense_Mutation_p.K450N|ZNF667_uc010etm.2_Missense_Mutation_p.K393N	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	450	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GGCCGAAAACTTTACTACATT	0.373													G	56953014	T	G	56953014	3	3	37	1	0	0	0	0	1	0	0	0	18071	1606	56	5	486	5	ZNF667	19	56953014	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	219977	56953014	2175969	1052	35117											
ZNF667	63934	broad.mit.edu	37	chr19	56953681	56953681	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggccttcccacagtcaAgaatttcctttccatcatga	5	13	3	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:56953681A>C	uc002qnd.2	-	5	845	c.683T>G	c.(682-684)CTT>CGT	p.L228R	ZNF667_uc010etl.2_Missense_Mutation_p.L10R|ZNF667_uc002qne.2_Missense_Mutation_p.L228R|ZNF667_uc010etm.2_Missense_Mutation_p.L171R	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CCCACAGTCAAGAATTTCCTT	0.393													C	56953681	A	C	56953681	3	2	37	1	0	0	0	0	1	0	0	0	18071	72	3	5	1153	5	ZNF667	19	56953681	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	667	56953681	2175302	1053	35118											
ZNF416	55659	broad.mit.edu	37	chr19	58083498	58083498	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcaagagttaaacaatgtTagatcttgggctgtagggtt	11	4	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:58083498T>C	uc002qpf.2	-	4	1945	c.1774A>G	c.(1774-1776)AAC>GAC	p.N592D	ZNF547_uc002qpm.3_Intron	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TAAACAATGTTAGATCTTGGG	0.458													C	58083498	T	C	58083498	3	2	37	1	0	0	0	0	1	0	0	0	17890	1754	61	3	14	3	ZNF416	19	58083498	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	1129817	58083498	1045485	1054	35119											
ZNF324	25799	broad.mit.edu	37	chr19	58983336	58983336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccgcgccttccgtgagCgcccggccctcttccaccac	11	20	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:58983336C>T	uc002qsw.1	+	4	1571	c.1477C>T	c.(1477-1479)CGC>TGC	p.R493C	ZNF324_uc002qsx.1_Missense_Mutation_p.R270C	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	493	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTTCCGTGAGCGCCCGGCCCT	0.697													T	58983336	C	T	58983336	3	4	37	1	0	0	0	0	1	0	0	0	17841	768	27	1	1487	1	ZNF324	19	58983336	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	899838	58983336	145647	1055	35120											
TBC1D20	128637	broad.mit.edu	37	chr20	419299	419299	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccacagccagtgcagcCgctccaagtgccactgtcag	9	16	2	0	rs141648576		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:419299C>T	uc002wds.2	-	8	1281	c.1143G>A	c.(1141-1143)GCG>GCA	p.A381A	TBC1D20_uc002wdv.2_Silent_p.A204A|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	381	Helical; (Potential).				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)	1		all_epithelial(17;0.228)|Breast(17;0.231)				CCAGTGCAGCCGCTCCAAGTG	0.532													T	419299	C	T	419299	2	4	37	1	0	0	0	0	0	0	0	1	15606	639	23	1		1	TBC1D20	20	419299	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08		419299	62606221	1056	35121											
ZNF343	79175	broad.mit.edu	37	chr20	2464827	2464827	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcttccctaagagggtcctCgggtttgtaataaagtttga	10	7	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:2464827C>T	uc002wge.1	-	6	1268	c.780G>A	c.(778-780)CCG>CCA	p.P260P	ZNF343_uc010gao.1_Silent_p.P260P|ZNF343_uc002wgd.1_Silent_p.P170P	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						AGAGGGTCCTCGGGTTTGTAA	0.433													T	2464827	C	T	2464827	2	4	37	1	0	0	0	0	0	0	0	1	17855	871	31	1		1	ZNF343	20	2464827	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2045528	2464827	60560693	1057	35122											
C20orf27	54976	broad.mit.edu	37	chr20	3735049	3735049	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctcacgctctcacccatgAcgcgggcctgcaccgtcacg	10	19	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:3735049A>G	uc002wji.1	-	5	648	c.419T>C	c.(418-420)GTC>GCC	p.V140A	C20orf27_uc002wjf.1_3'UTR|C20orf27_uc002wjh.1_Missense_Mutation_p.V165A	NM_001039140	NP_001034229	Q9GZN8	CT027_HUMAN	hypothetical protein LOC54976	140											0						CTCACCCATGACGCGGGCCTG	0.612													G	3735049	A	G	3735049	3	3	37	1	0	0	0	0	1	0	0	0	2107	275	10	3	113	3	C20orf27	20	3735049	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	1270222	3735049	59290471	1058	35123											
FERMT1	55612	broad.mit.edu	37	chr20	6088264	6088264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccttgttccataagggagCgtgaggagtctagccaacta	12	9	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:6088264C>T	uc002wmr.2	-	6	1553	c.764G>A	c.(763-765)CGC>CAC	p.R255H	FERMT1_uc010gbt.2_5'UTR|FERMT1_uc002wms.2_Missense_Mutation_p.R255H|FERMT1_uc002wmt.2_5'UTR	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	kindlin-1	255	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			ovary(1)|pancreas(1)|skin(1)	3						CATAAGGGAGCGTGAGGAGTC	0.338													T	6088264	C	T	6088264	3	4	37	1	0	0	0	0	1	0	0	0	5817	768	27	1	1309	1	FERMT1	20	6088264	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2353215	6088264	56937256	1059	35124											
CST2	1470	broad.mit.edu	37	chr20	23807170	23807170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaagggcacgctgtaccCgctcatcattgaggtctgca	12	11	3	2	rs148004300	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:23807170C>T	uc002wtq.1	-	1	143	c.128G>A	c.(127-129)CGG>CAG	p.R43Q		NM_001322	NP_001313	P09228	CYTT_HUMAN	cystatin SA precursor	43						extracellular region	cysteine-type endopeptidase inhibitor activity				0						ACGCTGTACCCGCTCATCATT	0.592													T	23807170	C	T	23807170	3	4	37	1	0	0	0	0	1	0	0	0	3972	652	23	1	309	1	CST2	20	23807170	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	17718906	23807170	39218350	1060	35125											
DEFB116	245930	broad.mit.edu	37	chr20	29891233	29891233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggctctcggctcttgcCattgtgggatctgaacaggc	12	12	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:29891233C>T	uc010ztm.1	-	2	91	c.91G>A	c.(91-93)GGC>AGC	p.G31S		NM_001037731	NP_001032820	Q30KQ4	DB116_HUMAN	beta-defensin 116 precursor	31					defense response to bacterium	extracellular region					0	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CGGCTCTTGCCATTGTGGGAT	0.463													T	29891233	C	T	29891233	3	4	37	1	0	0	0	0	1	0	0	0	4405	594	21	4	220	4	DEFB116	20	29891233	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	6084063	29891233	33134287	1061	35126											
TM9SF4	9777	broad.mit.edu	37	chr20	30733169	30733169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacctgaccatgagtgacGtccagatccactggttttct	8	12	1	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:30733169G>A	uc002wxj.2	+	8	1061	c.826G>A	c.(826-828)GTC>ATC	p.V276I	TM9SF4_uc010ztr.1_Missense_Mutation_p.V202I|TM9SF4_uc010zts.1_Missense_Mutation_p.V183I|TM9SF4_uc002wxk.2_Missense_Mutation_p.V259I|TM9SF4_uc010gdz.2_Missense_Mutation_p.V183I	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	276						integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CATGAGTGACGTCCAGATCCA	0.527													A	30733169	G	A	30733169	3	1	37	1	0	0	0	0	1	0	0	0	15977	1145	40	1	856	1	TM9SF4	20	30733169	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	841936	30733169	32292351	1062	35127											
PLAGL2	5326	broad.mit.edu	37	chr20	30789952	30789952	+	Frame_Shift_Del	DEL	G	G	-													tgctttgcatcttgaatccaGggggggacgctggtgaaaaa							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:30789951_30789951AG>A	uc002wxn.2	-	1	248	c.31_31CT>T	c.(31-33)tggfs	p.W11fs		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	11						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCTTGAATCCAGGGGGGGACG	0.557													-	30789952	G	-	30789952	7	5	37	1	0	1	0	1	0	0	0	0	12020	987	35	0	1468	0	PLAGL2	20	30789952	Frame_Shift_Del	DEL	G	TCGA-BR-6566-01A-11D-1800-08	56783	30789952	32235568	1063	35128											
CHMP4B	128866	broad.mit.edu	37	chr20	32439984	32439984	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccctctaccaaatgttccCtctatagccctaccatcaaa	3	16	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:32439984C>A	uc002xaa.2	+	4	741	c.585C>A	c.(583-585)CCC>CCA	p.P195P		NM_176812	NP_789782	Q9H444	CHM4B_HUMAN	chromatin modifying protein 4B	195					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			ovary(1)|central_nervous_system(1)	2						CAAATGTTCCCTCTATAGCCC	0.488													A	32439984	C	A	32439984	2	1	37	1	0	0	0	0	0	0	0	1	3357	668	24	5		5	CHMP4B	20	32439984	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1650032	32439984	30585536	1064	35129											
AHCY	191	broad.mit.edu	37	chr20	32883286	32883286	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcgatgcgggcgcccttcAgtggcttggaggccgagtac	16	12	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:32883286A>C	uc002xai.2	-	2	273	c.134T>G	c.(133-135)CTG>CGG	p.L45R	AHCY_uc002xaj.2_Missense_Mutation_p.L17R|AHCY_uc010get.2_Missense_Mutation_p.L45R	NM_000687	NP_000678	P23526	SAHH_HUMAN	adenosylhomocysteinase isoform 1	45					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding				0						GGCGCCCTTCAGTGGCTTGGA	0.662													C	32883286	A	C	32883286	3	2	37	1	0	0	0	0	1	0	0	0	409	188	7	5	1200	5	AHCY	20	32883286	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	443302	32883286	30142234	1065	35130											
GSS	2937	broad.mit.edu	37	chr20	33523414	33523414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaggcatgtagccatcccGgaagtaaaccacagcaattt	9	11	0	0	rs121909308		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:33523414G>A	uc002xbg.2	-	9	879	c.799C>T	c.(799-801)CGG>TGG	p.R267W	GSS_uc010zun.1_Missense_Mutation_p.R139W|GSS_uc010zuo.1_Missense_Mutation_p.R156W|GSS_uc010zup.1_Missense_Mutation_p.R198W|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_5'UTR	NM_000178	NP_000169	P48637	GSHB_HUMAN	glutathione synthetase	267	Substrate binding.		R -> W (in GSS deficiency).		nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TAGCCATCCCGGAAGTAAACC	0.468													A	33523414	G	A	33523414	3	1	37	1	0	0	0	0	1	0	0	0	6829	1115	39	1	645	1	GSS	20	33523414	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	640128	33523414	29502106	1066	35131											
RBM12	10137	broad.mit.edu	37	chr20	34243085	34243085	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcgcatcataccaagccTtgcatcttcatcagtggcaa	8	12	4	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:34243085T>C	uc002xdq.2	-	3	392	c.160A>G	c.(160-162)AGG>GGG	p.R54G	CPNE1_uc010zvj.1_5'Flank|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.R54G|RBM12_uc002xds.2_Missense_Mutation_p.R54G	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	54						nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ATACCAAGCCTTGCATCTTCA	0.453											OREG0004046	type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C	34243085	T	C	34243085	3	2	37	1	0	0	0	0	1	0	0	0	13113	1608	56	3	2642	3	RBM12	20	34243085	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	719671	34243085	28782435	1067	35132											
MYL9	10398	broad.mit.edu	37	chr20	35176475	35176475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctggagggcatgatgagCgaggccccggggcccatcaa	15	12	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:35176475C>T	uc002xfl.1	+	3	319	c.225C>T	c.(223-225)AGC>AGT	p.S75S	uc002xfk.3_Intron|MYL9_uc002xfm.1_Intron	NM_006097	NP_006088	P24844	MYL9_HUMAN	myosin regulatory light chain 9 isoform a	75					axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle				0	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCATGATGAGCGAGGCCCCGG	0.612													T	35176475	C	T	35176475	2	4	37	1	0	0	0	0	0	0	0	1	10054	767	27	1		1	MYL9	20	35176475	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	933390	35176475	27849045	1068	35133											
FAM83D	81610	broad.mit.edu	37	chr20	37555035	37555035	+	Frame_Shift_Del	DEL	C	C	-													ttcaaaggttgcctataaagCgggactgcacgccggttttt							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:37555035delC	uc002xjg.2	+	1	81	c.40delC	c.(40-42)CGGfs	p.R14fs	FAM83D_uc002xjf.2_Frame_Shift_Del_p.R14fs	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	hypothetical protein LOC81610	Error:Variant_position_missing_in_Q9H4H8_after_alignment					cell division|mitosis	cytoplasm|spindle pole				ovary(3)	3		Myeloproliferative disorder(115;0.00878)				GCCTATAAAGCGGGACTGCAC	0.652													-	37555035	C	-	37555035	7	5	37	1	0	1	0	1	0	0	0	0	5636	759	27	0	42	0	FAM83D	20	37555035	Frame_Shift_Del	DEL	C	TCGA-BR-6566-01A-11D-1800-08	2378560	37555035	25470485	1069	35134											
LPIN3	64900	broad.mit.edu	37	chr20	39980775	39980775	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggaccccaaccctgaacaTgaacctgaacccactctgga	8	15	1	3	rs146167352	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:39980775T>C	uc002xjx.2	+	9	1369	c.1278T>C	c.(1276-1278)CAT>CAC	p.H426H	LPIN3_uc010ggh.2_Silent_p.H427H|LPIN3_uc010zwf.1_RNA	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	lipin 3	426					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.000739)				ACCCTGAACATGAACCTGAAC	0.567													C	39980775	T	C	39980775	2	2	37	1	0	0	0	0	0	0	0	1	8920	1461	51	3		3	LPIN3	20	39980775	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08	2425740	39980775	23044745	1070	35135											
SEMG2	6407	broad.mit.edu	37	chr20	43851236	43851236	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctatccaaactgaagagaaAatacatggcaagtctcaaaa	6	8	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:43851236A>C	uc010ggz.2	+	2	1020	c.963A>C	c.(961-963)AAA>AAC	p.K321N	SEMG2_uc002xnk.2_Missense_Mutation_p.K321N|SEMG2_uc002xnl.2_Missense_Mutation_p.K321N	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	321	Repeat-rich region.|4 X 60 AA tandem repeats, type I.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CTGAAGAGAAAATACATGGCA	0.378													C	43851236	A	C	43851236	3	2	37	1	0	0	0	0	1	0	0	0	14045	11	1	5	969	5	SEMG2	20	43851236	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	3870461	43851236	19174284	1071	35136											
MATN4	8785	broad.mit.edu	37	chr20	43933091	43933091	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcacgatgacagcgacAcgcggcacgcgctcctctgg	12	15	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:43933091A>G	uc002xnn.2	-	3	607	c.420T>C	c.(418-420)CGT>CGC	p.R140R	MATN4_uc002xno.2_Silent_p.R140R|MATN4_uc002xnp.2_Silent_p.R140R|MATN4_uc010zwr.1_Silent_p.R88R|MATN4_uc002xnr.1_Silent_p.R140R|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	140	VWFA 1.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				TGACAGCGACACGCGGCACGC	0.701													G	43933091	A	G	43933091	2	3	37	1	0	0	0	0	0	0	0	1	9336	146	6	3		3	MATN4	20	43933091	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	81855	43933091	19092429	1072	35137											
PLTP	5360	broad.mit.edu	37	chr20	44533614	44533614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaacagctgcagggccccCgcccggaagtagctctccat	11	16	1	0	rs61731059	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:44533614C>T	uc002xqn.1	-	9	929	c.849G>A	c.(847-849)GCG>GCA	p.A283A	PLTP_uc002xql.1_Silent_p.A195A|PLTP_uc002xqm.1_Silent_p.A303A|PLTP_uc002xqo.1_Silent_p.A231A|PLTP_uc002xqp.1_Silent_p.A283A|PLTP_uc002xqq.1_Silent_p.A252A|PLTP_uc010zxj.1_Silent_p.A188A|PLTP_uc010ghj.1_Silent_p.A283A	NM_006227	NP_006218	P55058	PLTP_HUMAN	phospholipid transfer protein isoform a	283					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GCAGGGCCCCCGCCCGGAAGT	0.597													T	44533614	C	T	44533614	2	4	37	1	0	0	0	0	0	0	0	1	12114	639	23	1		1	PLTP	20	44533614	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	600523	44533614	18491906	1073	35138											
SLC9A8	23315	broad.mit.edu	37	chr20	48503419	48503419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaaccccttcttcactcGgaggctgacgcaggaggtgg	13	13	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:48503419G>A	uc002xuv.1	+	15	1832	c.1622G>A	c.(1621-1623)CGG>CAG	p.R541Q	SLC9A8_uc010zym.1_Missense_Mutation_p.R241Q|SLC9A8_uc010gid.2_Missense_Mutation_p.R165Q	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	541						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTCTTCACTCGGAGGCTGACG	0.647													A	48503419	G	A	48503419	3	1	37	1	0	0	0	0	1	0	0	0	14720	1116	39	1	1680	1	SLC9A8	20	48503419	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3969805	48503419	14522101	1074	35139											
ZFP64	55734	broad.mit.edu	37	chr20	50769076	50769077	+	Frame_Shift_Ins	INS	-	-	G													cggacaccgcgaggactgagINSggggggcgatcagactgacc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:50769075_50769076A>AG	uc002xwl.3	-	5	2004_2005	c.1655_1656T>CT	c.(1654-1656)cctfs	p.P552fs	ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Frame_Shift_Ins_p.P550fs|ZFP64_uc002xwn.3_Frame_Shift_Ins_p.P498fs	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673													G	50769077	-	G	50769076	7	5	37	1	0	1	1	0	0	0	0	0	17649	1000	35	0	1585	0	ZFP64	20	50769076	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	2265657	50769076	12256444	1075	35140											
C20orf106	200232	broad.mit.edu	37	chr20	55100911	55100911	+	Frame_Shift_Del	DEL	A	A	-													aacttcactctccattaaagAaaaaaagaaatgcttccccc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:55100911delA	uc002xxx.2	+	2	381	c.301delA	c.(301-303)AAAfs	p.K101fs	GCNT7_uc010zzg.1_5'UTR|C20orf107_uc010zzh.1_Intron	NM_001012971	NP_001012989	Q5JX71	CT106_HUMAN	hypothetical protein LOC200232 precursor	101	Cytoplasmic (Potential).					integral to membrane					0			Colorectal(105;0.202)			TCCATTAAAGAAAAAAAGAAA	0.428													-	55100911	A	-	55100911	7	5	37	1	0	1	0	1	0	0	0	0	2076	247	9	0	307	0	C20orf106	20	55100911	Frame_Shift_Del	DEL	A	TCGA-BR-6566-01A-11D-1800-08	4331835	55100911	7924609	1076	35141											
PCK1	5105	broad.mit.edu	37	chr20	56138681	56138681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcggccgcatttcccagcGcctgcgggaagaccaacctg	13	15	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:56138681G>A	uc002xyn.3	+	6	1022	c.859G>A	c.(859-861)GCC>ACC	p.A287T	PCK1_uc010zzm.1_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	287	GTP.				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			skin(1)	1	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ATTTCCCAGCGCCTGCGGGAA	0.542													A	56138681	G	A	56138681	3	1	37	1	0	0	0	0	1	0	0	0	11581	1087	38	1	877	1	PCK1	20	56138681	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1037770	56138681	6886839	1077	35142											
STX16	8675	broad.mit.edu	37	chr20	57227154	57227154	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccgagcaagtgagtagtcAcatcacctccagccctctgc	9	15	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:57227154A>G	uc002xzi.2	+	1	827	c.92A>G	c.(91-93)CAC>CGC	p.H31R	STX16_uc010zzq.1_5'UTR|STX16_uc002xzk.2_Intron|STX16_uc002xzm.2_Missense_Mutation_p.H31R|STX16_uc002xzj.2_Intron|STX16_uc002xzl.2_Intron	NM_001001433	NP_001001433	O14662	STX16_HUMAN	syntaxin 16 isoform a	31	Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			ovary(1)	1	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			GTGAGTAGTCACATCACCTCC	0.542													G	57227154	A	G	57227154	3	3	37	1	0	0	0	0	1	0	0	0	15338	159	6	3	94	3	STX16	20	57227154	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	1088473	57227154	5798366	1078	35143											
TH1L	51497	broad.mit.edu	37	chr20	57561169	57561169	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaggatgattctggagaaGgagaggatgatgcggaggtt	19	2	1	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:57561169G>T	uc002yag.2	+	2	136	c.109G>T	c.(109-111)GGA>TGA	p.G37*	TH1L_uc010zzu.1_Nonsense_Mutation_p.G37*|TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Nonsense_Mutation_p.G37*	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	37					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)		Colorectal(105;0.109)			TTCTGGAGAAGGAGAGGATGA	0.373													T	57561169	G	T	57561169	4	4	37	1	0	0	0	0	0	1	0	0	15836	1001	35	5	115	5	TH1L	20	57561169	Nonsense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	334015	57561169	5464351	1079	35144											
PSMA7	5688	broad.mit.edu	37	chr20	60714232	60714232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagatgccaaacggcctgcGcccattgctctgcgtataac	10	13	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:60714232G>A	uc002ybx.1	-	4	485	c.370C>T	c.(370-372)CGC>TGC	p.R124C	PSMA7_uc002yby.1_RNA	NM_002792	NP_002783	O14818	PSA7_HUMAN	proteasome alpha 7 subunit	124					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity				0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			AACGGCCTGCGCCCATTGCTC	0.502													A	60714232	G	A	60714232	3	1	37	1	0	0	0	0	1	0	0	0	12672	1087	38	1	392	1	PSMA7	20	60714232	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3153063	60714232	2311288	1080	35145											
C20orf151	140893	broad.mit.edu	37	chr20	60988604	60988604	+	Splice_Site	DEL	G	G	-													aagtgggcgtgaggggtcctGgggggaggcaagtaggtggc							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:60988603_60988603TG>T	uc002ycw.2	-	11	1728	c.1531_splice	c.e11-1	p.D511_splice		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA.	511	Pro-rich.									large_intestine(3)|lung(3)|prostate(1)|skin(4)|stomach(1)	12	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)			TGAGGGGTCCTGGGGGGAGGC	0.627													-	60988604	G	-	60988604	8	5	37	1	0	1	0	1	0	0	1	0	2091	1363	47	0		0	C20orf151	20	60988604	Splice_Site	DEL	G	TCGA-BR-6566-01A-11D-1800-08	274372	60988604	2036916	1081	35146											
BHLHE23	128408	broad.mit.edu	37	chr20	61637673	61637673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgatcttggagagcttgcGcaccgacgggctgtgcgcgt	17	11	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:61637673G>A	uc002yeb.2	-	1	715	c.406C>T	c.(406-408)CGC>TGC	p.R136C		NM_080606	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix domain containing, class	136	Helix-loop-helix motif.				transcription, DNA-dependent	nucleus	DNA binding				0						GAGAGCTTGCGCACCGACGGG	0.552													A	61637673	G	A	61637673	3	1	37	1	0	0	0	0	1	0	0	0	1422	1087	38	1	275	1	BHLHE23	20	61637673	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	649069	61637673	1387847	1082	35147											
ZGPAT	84619	broad.mit.edu	37	chr20	62366010	62366010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcagtggtggggtcggaCgccgtggactctgcacagtc	16	11	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:62366010C>T	uc002ygk.2	+	5	1063	c.885C>T	c.(883-885)GAC>GAT	p.D295D	ZGPAT_uc002ygi.2_Intron|ZGPAT_uc002ygj.2_Intron|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Intron|ZGPAT_uc002ygm.2_Intron|ZGPAT_uc002ygn.3_Intron|LIME1_uc011abi.1_5'Flank|LIME1_uc002ygp.3_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	295					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					TGGGGTCGGACGCCGTGGACT	0.617													T	62366010	C	T	62366010	2	4	37	1	0	0	0	0	0	0	0	1	17671	535	19	1		1	ZGPAT	20	62366010	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	728337	62366010	659510	1083	35148											
TPTE	7179	broad.mit.edu	37	chr21	10942730	10942730	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtaacgtaagtgaggtcTaggtcaaatccatcccttgt	9	10	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr21:10942730T>G	uc002yip.1	-	13	1079	c.711A>C	c.(709-711)CTA>CTC	p.L237L	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.L219L|TPTE_uc002yir.1_Silent_p.L199L|TPTE_uc010gkv.1_Silent_p.L99L	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	237	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGTGAGGTCTAGGTCAAATC	0.328													G	10942730	T	G	10942730	2	3	37	1	0	0	0	0	0	0	0	1	16427	1509	53	5		5	TPTE	21	10942730	Silent	SNP	T	TCGA-BR-6566-01A-11D-1800-08		10942730	37187165	1084	35149											
POTED	317754	broad.mit.edu	37	chr21	14982981	14982981	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagatctggacaagctccaCagagctgcctggtggggtaa	14	9	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr21:14982981C>A	uc002yjb.1	+	1	484	c.432C>A	c.(430-432)CAC>CAA	p.H144Q		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	pote protein	144						plasma membrane				ovary(3)|skin(3)	6						ACAAGCTCCACAGAGCTGCCT	0.577													A	14982981	C	A	14982981	3	1	37	1	0	0	0	0	1	0	0	0	12263	477	17	5	434	5	POTED	21	14982981	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	4040251	14982981	33146914	1085	35150											
APP	351	broad.mit.edu	37	chr21	27328060	27328060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctttagcatattgaacaCgtgacgaggctgtgggagga	13	7	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr21:27328060C>T	uc002ylz.2	-	12	1668	c.1468G>A	c.(1468-1470)GTG>ATG	p.V490M	APP_uc011acg.1_Translation_Start_Site|APP_uc010glk.2_Missense_Mutation_p.V466M|APP_uc002yma.2_Missense_Mutation_p.V471M|APP_uc011ach.1_Missense_Mutation_p.V434M|APP_uc002ymb.2_Missense_Mutation_p.V415M|APP_uc010glj.2_Missense_Mutation_p.V359M|APP_uc011aci.1_Missense_Mutation_p.V380M	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	490	Extracellular (Potential).				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				ATATTGAACACGTGACGAGGC	0.463													T	27328060	C	T	27328060	3	4	37	1	0	0	0	0	1	0	0	0	815	536	19	1	872	1	APP	21	27328060	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	12345079	27328060	20801835	1086	35151											
TIAM1	7074	broad.mit.edu	37	chr21	32595734	32595734	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactcaccagggcatgaaaCgatgataccgaaaagattcc	8	11	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr21:32595734C>T	uc002yow.1	-	9	2455	c.1983G>A	c.(1981-1983)TCG>TCA	p.S661S	TIAM1_uc011adk.1_Silent_p.S661S|TIAM1_uc011adl.1_Silent_p.S661S|TIAM1_uc002yox.1_Silent_p.S269S	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	661					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						GGGCATGAAACGATGATACCG	0.463													T	32595734	C	T	32595734	2	4	37	1	0	0	0	0	0	0	0	1	15887	523	19	1		1	TIAM1	21	32595734	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	5267674	32595734	15534161	1087	35152											
IFNAR1	3454	broad.mit.edu	37	chr21	34697376	34697376	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccagatgatggtcgtcctcCtgggcgcgacgaccctagtg	13	14	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr21:34697376C>A	uc002yrn.2	+	1	163	c.16C>A	c.(16-18)CTG>ATG	p.L6M	IFNAR1_uc011adv.1_Intron	NM_000629	NP_000620	P17181	INAR1_HUMAN	interferon-alpha receptor 1 precursor	6					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			central_nervous_system(1)|skin(1)	2					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GGTCGTCCTCCTGGGCGCGAC	0.682													A	34697376	C	A	34697376	3	1	37	1	0	0	0	0	1	0	0	0	7544	680	24	5	18	5	IFNAR1	21	34697376	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2101642	34697376	13432519	1088	35153											
ERG	2078	broad.mit.edu	37	chr21	39775628	39775628	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgtactccatagcgtaGgatctgaaaggggtgggaac	15	7	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr21:39775628G>T	uc010gnw.2	-	6	708	c.413C>A	c.(412-414)CCT>CAT	p.P138H	ERG_uc002yxa.2_Missense_Mutation_p.P131H|ERG_uc011aek.1_Missense_Mutation_p.P39H|ERG_uc010gnv.2_Missense_Mutation_p.P39H|ERG_uc010gnx.2_Missense_Mutation_p.P138H|ERG_uc011ael.1_Missense_Mutation_p.P138H|ERG_uc002yxb.2_Missense_Mutation_p.P138H|ERG_uc011aem.1_Intron|ERG_uc002yxc.3_Missense_Mutation_p.P138H|ERG_uc010gny.1_RNA	NM_001136155	NP_001129627	P11308	ERG_HUMAN	ets-related isoform 4	138	PNT.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828		Prostate(19;3.6e-06)				CCATAGCGTAGGATCTGAAAG	0.512													T	39775628	G	T	39775628	3	4	37	1	0	0	0	0	1	0	0	0	5222	1000	35	5	1075	5	ERG	21	39775628	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	5078252	39775628	8354267	1089	35154											
UMODL1	89766	broad.mit.edu	37	chr21	43496242	43496242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctggatcccctggaggCggtgccctaagatggtttac	15	11	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr21:43496242C>T	uc002zaf.1	+	2	205	c.205C>T	c.(205-207)CGG>TGG	p.R69W	UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zag.1_Missense_Mutation_p.R69W|uc002zah.1_RNA	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	69	Extracellular (Potential).|EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						CCCCTGGAGGCGGTGCCCTAA	0.607													T	43496242	C	T	43496242	3	4	37	1	0	0	0	0	1	0	0	0	16977	759	27	1	211	1	UMODL1	21	43496242	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3720614	43496242	4633653	1090	35155											
UMODL1	89766	broad.mit.edu	37	chr21	43529775	43529775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgccgtaccaccagggaCgccaccccctcccgcgcagg	11	20	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr21:43529775C>T	uc002zaf.1	+	10	1623	c.1623C>T	c.(1621-1623)GAC>GAT	p.D541D	UMODL1_uc002zad.1_Silent_p.D469D|UMODL1_uc002zae.1_Silent_p.D469D|UMODL1_uc002zag.1_Silent_p.D541D|C21orf128_uc002zak.2_5'Flank	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	541	EGF-like 2; calcium-binding (Potential).|Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						CCACCAGGGACGCCACCCCCT	0.687													T	43529775	C	T	43529775	2	4	37	1	0	0	0	0	0	0	0	1	16977	535	19	1		1	UMODL1	21	43529775	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	33533	43529775	4600120	1091	35156											
SIK1	150094	broad.mit.edu	37	chr21	44836942	44836942	+	Frame_Shift_Del	DEL	G	G	-													aaacggggcaggggccggctGgggggcctgggagcagccgg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr21:44836942delG	uc002zdf.2	-	14	2159	c.2032delC	c.(2032-2034)CAGfs	p.Q678fs		NM_173354	NP_775490	P57059	SIK1_HUMAN	salt-inducible kinase 1	678					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1)	7						GGGGCCGGCTGGGGGGCCTGG	0.736													-	44836942	G	-	44836942	7	5	37	1	0	1	0	1	0	0	0	0	14317	1357	47	0	323	0	SIK1	21	44836942	Frame_Shift_Del	DEL	G	TCGA-BR-6566-01A-11D-1800-08	1307167	44836942	3292953	1092	35157											
LSS	4047	broad.mit.edu	37	chr21	47626623	47626624	+	Frame_Shift_Ins	INS	-	-	C													tcagcagctccagcaagtgcINScccccacgcttggtctcata							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr21:47626622_47626623G>GC	uc002zij.3	-	15	1606_1607	c.1527_1528C>GC	c.(1525-1530)gggcacfs	p.G509fs	LSS_uc002zil.2_Frame_Shift_Ins_p.G509fs|LSS_uc011afv.1_Frame_Shift_Ins_p.G498fs|LSS_uc002zik.2_Frame_Shift_Ins_p.G429fs	NM_001001438	NP_002331	P48449	ERG7_HUMAN	Homo sapiens lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) (LSS), transcript variant 2, mRNA.	509					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					TCCAGCAAGTGCCCCCCACGCT	0.599													C	47626624	-	C	47626623	7	5	37	1	0	1	1	0	0	0	0	0	9065	726	26	0	699	0	LSS	21	47626623	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	2789681	47626623	503272	1093	35158											
C21orf58	54058	broad.mit.edu	37	chr21	47722461	47722461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaactggtgcacctgtgCgttctgcagcagcagcagct	12	13	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr21:47722461C>T	uc002zjf.2	-	8	1885	c.751G>A	c.(751-753)GCA>ACA	p.A251T	C21orf58_uc002ziz.2_Missense_Mutation_p.A168T|C21orf58_uc002zja.2_Missense_Mutation_p.A145T|C21orf58_uc011afw.1_Missense_Mutation_p.A168T|C21orf58_uc002zjc.2_Missense_Mutation_p.A145T|C21orf58_uc011afx.1_Missense_Mutation_p.A145T|C21orf58_uc010gqj.1_RNA	NM_058180	NP_478060	P58505	CU058_HUMAN	hypothetical protein LOC54058	251										pancreas(1)	1	Breast(49;0.112)			Colorectal(79;0.239)		TGCACCTGTGCGTTCTGCAGC	0.547													T	47722461	C	T	47722461	3	4	37	1	0	0	0	0	1	0	0	0	2129	768	27	1	225	1	C21orf58	21	47722461	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	95838	47722461	407434	1094	35159											
BID	637	broad.mit.edu	37	chr22	18220977	18220977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgctccagggcagtggCcaggtccctgttccggtcct	13	15	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:18220977C>T	uc002znd.1	-	5	552	c.382G>A	c.(382-384)GCC>ACC	p.A128T	BID_uc002znc.1_Missense_Mutation_p.A174T|BID_uc002zne.1_Missense_Mutation_p.A32T|BID_uc010gra.1_RNA|BID_uc002znf.1_Missense_Mutation_p.A32T|BID_uc010grb.1_Missense_Mutation_p.A128T|BID_uc010grc.1_Missense_Mutation_p.A32T	NM_001196	NP_001187	P55957	BID_HUMAN	BH3 interacting domain death agonist isoform 2	128					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding				0		all_epithelial(15;0.198)		Lung(27;0.0419)		AGGGCAGTGGCCAGGTCCCTG	0.577													T	18220977	C	T	18220977	3	4	37	1	0	0	0	0	1	0	0	0	1430	739	26	2	213	2	BID	22	18220977	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08		18220977	33083589	1095	35160											
HIRA	7290	broad.mit.edu	37	chr22	19398267	19398267	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagttgcgaacttggtcccGtcagggtgaatatcaactga	11	10	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:19398267G>A	uc002zpf.1	-	2	292	c.72C>T	c.(70-72)GAC>GAT	p.D24D	HIRA_uc011agx.1_Translation_Start_Site|HIRA_uc010grn.1_Silent_p.D24D|HIRA_uc010gro.1_Translation_Start_Site|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	24	WD 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					ACTTGGTCCCGTCAGGGTGAA	0.398													A	19398267	G	A	19398267	2	1	37	1	0	0	0	0	0	0	0	1	7120	1136	40	1		1	HIRA	22	19398267	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1177290	19398267	31906299	1096	35161											
C22orf25	128989	broad.mit.edu	37	chr22	20050943	20050943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtacgcggctgtgtgcgtgCgctgccctggctacggcacc	15	14	0	0	rs140525489		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:20050943C>T	uc010grw.1	+	9	1025	c.688C>T	c.(688-690)CGC>TGC	p.R230C	C22orf25_uc002zrb.1_Missense_Mutation_p.R168C|C22orf25_uc002zrc.1_Missense_Mutation_p.R230C|C22orf25_uc002zrd.1_Missense_Mutation_p.R196C|C22orf25_uc011ahe.1_RNA|C22orf25_uc011ahf.1_3'UTR|C22orf25_uc011ahg.1_Intron|C22orf25_uc002zrg.2_Missense_Mutation_p.R271C|C22orf25_uc011ahh.1_Missense_Mutation_p.A229V|C22orf25_uc002zrf.2_Missense_Mutation_p.R168C|C22orf25_uc011ahi.1_Missense_Mutation_p.R132C|C22orf25_uc010gry.1_RNA|C22orf25_uc002zrh.1_Missense_Mutation_p.R132C	NM_152906	NP_690870	Q6ICL3	CV025_HUMAN	hypothetical protein LOC128989	230											0	Colorectal(54;0.0533)					TGTGTGCGTGCGCTGCCCTGG	0.652													T	20050943	C	T	20050943	3	4	37	1	0	0	0	0	1	0	0	0	2139	768	27	1	714	1	C22orf25	22	20050943	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	652676	20050943	31253623	1097	35162											
ZNF74	7625	broad.mit.edu	37	chr22	20749701	20749701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggggtcttcccgaagccaGgtccaaggtgagtggctgtg	16	9	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:20749701G>A	uc010gsm.2	+	3	325	c.113G>A	c.(112-114)AGG>AAG	p.R38K	ZNF74_uc002zsg.2_5'UTR|ZNF74_uc002zsh.2_Missense_Mutation_p.R38K|ZNF74_uc002zsi.2_Intron|ZNF74_uc010gsn.2_5'UTR	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	38					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCCGAAGCCAGGTCCAAGGTG	0.537													A	20749701	G	A	20749701	3	1	37	1	0	0	0	0	1	0	0	0	18124	1000	35	4	119	4	ZNF74	22	20749701	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	698758	20749701	30554865	1098	35163											
DERL3	91319	broad.mit.edu	37	chr22	24180574	24180574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgaagagaaacatgaagaCgaagtcggccgtgcggccgc	14	12	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:24180574C>T	uc002zyh.2	-	4	317	c.292G>A	c.(292-294)GTC>ATC	p.V98I	DERL3_uc002zyk.3_Missense_Mutation_p.V98I|DERL3_uc002zyi.2_Missense_Mutation_p.V98I|DERL3_uc002zyj.2_Missense_Mutation_p.V24I	NM_001002862	NP_001002862	Q96Q80	DERL3_HUMAN	derlin 3 isoform 2	98	Cytoplasmic (Potential).				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding			ovary(1)	1						AACATGAAGACGAAGTCGGCC	0.652													T	24180574	C	T	24180574	3	4	37	1	0	0	0	0	1	0	0	0	4448	536	19	1	545	1	DERL3	22	24180574	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	3430873	24180574	27123992	1099	35164											
MIF	4282	broad.mit.edu	37	chr22	24236713	24236713	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgcgcctccgtgccggacGggttcctctccgagctcacc	11	20	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:24236713G>T	uc002zyr.1	+	1	149	c.52G>T	c.(52-54)GGG>TGG	p.G18W	MIF_uc011aje.1_Missense_Mutation_p.G18W|uc002zys.1_3'UTR	NM_002415	NP_002406	P14174	MIF_HUMAN	macrophage migration inhibitory factor	18					cell proliferation|cell surface receptor linked signaling pathway|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of cell aging|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of gene expression|positive regulation of B cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase A signaling cascade|prostaglandin biosynthetic process|protein homotrimerization|regulation of macrophage activation	cell surface|cytoplasm|extracellular space	cell surface binding|chemoattractant activity|cytokine activity|cytokine receptor binding|dopachrome isomerase activity|phenylpyruvate tautomerase activity				0						CGTGCCGGACGGGTTCCTCTC	0.692													T	24236713	G	T	24236713	3	4	37	1	0	0	0	0	1	0	0	0	9583	1116	39	5	54	5	MIF	22	24236713	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	56139	24236713	27067853	1100	35165											
CABIN1	23523	broad.mit.edu	37	chr22	24530289	24530289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctccagtgggcccgcgaCgtgttgctaggcagcagtat	13	12	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:24530289C>T	uc002zzi.1	+	29	4780	c.4653C>T	c.(4651-4653)GAC>GAT	p.D1551D	CABIN1_uc002zzj.1_Silent_p.D1472D|CABIN1_uc002zzl.1_Silent_p.D1551D	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1551					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GGGCCCGCGACGTGTTGCTAG	0.587													T	24530289	C	T	24530289	2	4	37	1	0	0	0	0	0	0	0	1	2528	535	19	1		1	CABIN1	22	24530289	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	293576	24530289	26774277	1101	35166											
CRYBB3	1417	broad.mit.edu	37	chr22	25598726	25598726	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgaccgacagcctgctggAgaaggtgggctccatccaag	13	13	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:25598726A>C	uc003abo.1	+	3	233	c.161A>C	c.(160-162)GAG>GCG	p.E54A		NM_004076	NP_004067	P26998	CRBB3_HUMAN	crystallin, beta B3	54	Beta/gamma crystallin 'Greek key' 1.				visual perception		protein binding|structural constituent of eye lens				0						AGCCTGCTGGAGAAGGTGGGC	0.537											OREG0026423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	25598726	A	C	25598726	3	2	37	1	0	0	0	0	1	0	0	0	3912	304	11	5	167	5	CRYBB3	22	25598726	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	1068437	25598726	25705840	1102	35167											
EWSR1	2130	broad.mit.edu	37	chr22	29668385	29668385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctacagtgcttacaccGcccagcccactcaaggatat	8	15	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:29668385G>A	uc003aet.2	+	3	395	c.67G>A	c.(67-69)GCC>ACC	p.A23T	EWSR1_uc003aes.3_Missense_Mutation_p.A23T|EWSR1_uc003aev.2_Missense_Mutation_p.A23T|EWSR1_uc003aew.2_Missense_Mutation_p.A23T|EWSR1_uc003aex.2_Missense_Mutation_p.A23T	NM_005243	NP_005234	Q01844	EWS_HUMAN	Ewing sarcoma breakpoint region 1 isoform 2	23	EAD (Gln/Pro/Thr-rich).|2.|31 X approximate tandem repeats.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254						TGCTTACACCGCCCAGCCCAC	0.368			T	FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1	Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma								A	29668385	G	A	29668385	3	1	37	1	0	0	0	0	1	0	0	0	5296	1087	38	1	77	1	EWSR1	22	29668385	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	4069659	29668385	21636181	1103	35168											
OSBP2	23762	broad.mit.edu	37	chr22	31289120	31289121	+	Frame_Shift_Ins	INS	-	-	C													ggtctcaggtgagccaccacINScccccctcagctgcgcacta							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:31289119_31289120A>AC	uc003aiy.1	+	8	1984_1985	c.1880_1881A>AC	c.(1879-1881)cacfs	p.H627fs	OSBP2_uc011ala.1_Frame_Shift_Ins_p.H461fs|OSBP2_uc010gwc.1_Frame_Shift_Ins_p.H454fs|OSBP2_uc011alb.1_Frame_Shift_Ins_p.H578fs|OSBP2_uc003aiz.1_Frame_Shift_Ins_p.H626fs|OSBP2_uc003aja.1_Frame_Shift_Ins_p.H260fs|OSBP2_uc011alc.2_Frame_Shift_Ins_p.H369fs|OSBP2_uc011ald.1_Frame_Shift_Ins_p.H171fs|OSBP2_uc010gwd.1_Frame_Shift_Ins_p.H172fs	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	627					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTGAGCCACCACCCCCCCTCAG	0.594													C	31289121	-	C	31289120	7	5	37	1	0	1	1	0	0	0	0	0	11274	506	18	0	1915	0	OSBP2	22	31289120	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	1620735	31289120	20015446	1104	35169											
DRG1	4733	broad.mit.edu	37	chr22	31823111	31823111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcttccttactccaggaCcacagtggaggatttctgca	11	11	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:31823111C>T	uc003aku.2	+	8	1078	c.947C>T	c.(946-948)ACC>ATC	p.T316I		NM_004147	NP_004138	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	316					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			central_nervous_system(1)	1						TACTCCAGGACCACAGTGGAG	0.418													T	31823111	C	T	31823111	3	4	37	1	0	0	0	0	1	0	0	0	4761	507	18	4	977	4	DRG1	22	31823111	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	533991	31823111	19481455	1105	35170											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31859034	31859034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagactgacttgtgggtccaGcagagaaccactctggttct	11	11	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:31859034G>A	uc003akz.1	-	6	835	c.671C>T	c.(670-672)GCT>GTT	p.A224V	EIF4ENIF1_uc003ala.1_Missense_Mutation_p.A224V|EIF4ENIF1_uc003alb.1_Intron	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E	224						nucleus	protein binding|protein transporter activity			ovary(1)	1						TGTGGGTCCAGCAGAGAACCA	0.428													A	31859034	G	A	31859034	3	1	37	1	0	0	0	0	1	0	0	0	5035	971	34	2	2345	2	EIF4ENIF1	22	31859034	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	35923	31859034	19445532	1106	35171											
PISD	23761	broad.mit.edu	37	chr22	32015676	32015676	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaagtccttgggggcctcGaagatgagcacgatggtgga	16	7	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:32015676G>A	uc003alm.3	-	8	1159	c.1152C>T	c.(1150-1152)TTC>TTT	p.F384F	PISD_uc003alk.2_Silent_p.F350F|PISD_uc003all.2_3'UTR|PISD_uc011alr.1_Silent_p.F349F|PISD_uc003aln.3_Silent_p.F346F	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	384					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(2)|ovary(1)	3					Phosphatidylserine(DB00144)	TGGGGGCCTCGAAGATGAGCA	0.557													A	32015676	G	A	32015676	2	1	37	1	0	0	0	0	0	0	0	1	11946	1049	37	1		1	PISD	22	32015676	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	156642	32015676	19288890	1107	35172											
LARGE	9215	broad.mit.edu	37	chr22	33670462	33670462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagggcagcaaagccgtagCggcgggacatgtcctgctga	15	11	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:33670462C>T	uc003and.3	-	16	2801	c.2222G>A	c.(2221-2223)CGC>CAC	p.R741H	LARGE_uc011amd.1_Missense_Mutation_p.R540H|LARGE_uc003ane.3_Missense_Mutation_p.R741H|LARGE_uc010gwp.2_Missense_Mutation_p.R689H|LARGE_uc011ame.1_Missense_Mutation_p.R673H|LARGE_uc011amf.1_Missense_Mutation_p.R692H	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	741	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				AAAGCCGTAGCGGCGGGACAT	0.537											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	33670462	C	T	33670462	3	4	37	1	0	0	0	0	1	0	0	0	8627	768	27	1	52	1	LARGE	22	33670462	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1654786	33670462	17634104	1108	35173											
TMPRSS6	164656	broad.mit.edu	37	chr22	37480395	37480395	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcatacttctgcctcctcAgtgcataggcatcaaaccag	6	13	4	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:37480395A>G	uc003aqs.1	-	10	1277	c.1163T>C	c.(1162-1164)CTG>CCG	p.L388P	TMPRSS6_uc003aqt.1_Missense_Mutation_p.L379P|TMPRSS6_uc003aqu.2_Missense_Mutation_p.L379P	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	388	CUB 2.|Extracellular (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)|skin(1)	6						CTGCCTCCTCAGTGCATAGGC	0.512													G	37480395	A	G	37480395	3	3	37	1	0	0	0	0	1	0	0	0	16248	188	7	3	1308	3	TMPRSS6	22	37480395	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	3809933	37480395	13824171	1109	35174											
DDX17	10521	broad.mit.edu	37	chr22	38894492	38894492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaatgcccaccatatcccGgccactaagagccaacggaa	8	15	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:38894492G>A	uc003avy.3	-	4	728	c.625C>T	c.(625-627)CGG>TGG	p.R209W	DDX17_uc003avx.3_Missense_Mutation_p.R209W|DDX17_uc011anu.1_Missense_Mutation_p.R122W	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	DEAD box polypeptide 17 isoform 3	130	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			skin(3)|upper_aerodigestive_tract(1)	4	Melanoma(58;0.0286)					ACCATATCCCGGCCACTAAGA	0.438													A	38894492	G	A	38894492	3	1	37	1	0	0	0	0	1	0	0	0	4344	1115	39	1	1610	1	DDX17	22	38894492	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1414097	38894492	12410074	1110	35175											
PDGFB	5155	broad.mit.edu	37	chr22	39621767	39621767	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtgccgtcttgtcatgCgtgtgcttgaatttccggtg	12	9	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:39621767C>T	uc003axf.2	-	6	1676	c.687G>A	c.(685-687)ACG>ACA	p.T229T	PDGFB_uc003axe.2_Silent_p.T214T	NM_002608	NP_002599	P01127	PDGFB_HUMAN	platelet-derived growth factor beta isoform 1	229					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(1)	373	Melanoma(58;0.04)				Becaplermin(DB00102)	TCTTGTCATGCGTGTGCTTGA	0.622			T	COL1A1	DFSP								T	39621767	C	T	39621767	2	4	37	1	0	0	0	0	0	0	0	1	11658	755	27	1		1	PDGFB	22	39621767	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	727275	39621767	11682799	1111	35176											
MGAT3	4248	broad.mit.edu	37	chr22	39884484	39884484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcagtgtatgggctggacGgcatccgcctgcgccgccgc	16	14	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:39884484G>A	uc003axv.3	+	2	1371	c.1132G>A	c.(1132-1134)GGC>AGC	p.G378S	MGAT3_uc010gxy.2_Missense_Mutation_p.G378S	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	378	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					TGGGCTGGACGGCATCCGCCT	0.647													A	39884484	G	A	39884484	3	1	37	1	0	0	0	0	1	0	0	0	9544	1116	39	1	1134	1	MGAT3	22	39884484	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	262717	39884484	11420082	1112	35177											
EP300	2033	broad.mit.edu	37	chr22	41556645	41556645	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtatggccttcttgccgacaGgtatcatttctgtgagaagt	11	8	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:41556645G>T	uc003azl.3	+	20	3986	c.3591_splice	c.e20-1	p.R1197_splice		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300						apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CTTGCCGACAGGTATCATTTC	0.507			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				T	41556645	G	T	41556645	5	4	37	1	0	0	0	0	0	0	1	0	5148	1014	35	5	3668	5	EP300	22	41556645	Splice_Site	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1672161	41556645	9747921	1113	35178											
SAMM50	25813	broad.mit.edu	37	chr22	44379812	44379812	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgctgttttgtcctaGgttttaccttgggggaccca	12	9	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:44379812G>T	uc003bej.2	+	12	1205	c.1008_splice	c.e12-1	p.R336_splice	SAMM50_uc011aqd.1_Splice_Site_p.R126_splice|SAMM50_uc003bek.2_Splice_Site_p.R141_splice	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	sorting and assembly machinery component 50						protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			skin(1)	1		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TTTTGTCCTAGGTTTTACCTT	0.537													T	44379812	G	T	44379812	5	4	37	1	0	0	0	0	0	0	1	0	13829	1014	35	5	1053	5	SAMM50	22	44379812	Splice_Site	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2823167	44379812	6924754	1114	35179											
UPK3A	7380	broad.mit.edu	37	chr22	45681923	45681923	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgcatgtttgacagcAaagaggccctcactggcacc	9	14	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:45681923A>G	uc003bfy.2	+	2	160	c.154A>G	c.(154-156)AAA>GAA	p.K52E	UPK3A_uc010gzy.2_Missense_Mutation_p.K52E	NM_006953	NP_008884	O75631	UPK3A_HUMAN	uroplakin 3A precursor	52	Lumenal (Potential).				epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GTTTGACAGCAAAGAGGCCCT	0.567													G	45681923	A	G	45681923	3	3	37	1	0	0	0	0	1	0	0	0	17007	131	5	3	160	3	UPK3A	22	45681923	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	1302111	45681923	5622643	1115	35180											
FBLN1	2192	broad.mit.edu	37	chr22	45944543	45944543	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccacatctgctcctaccgcTgcatcaacatccctggaagc	7	17	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:45944543T>C	uc003bgj.1	+	13	1639	c.1492T>C	c.(1492-1494)TGC>CGC	p.C498R	FBLN1_uc003bgg.1_Missense_Mutation_p.C498R|FBLN1_uc003bgh.2_Missense_Mutation_p.C498R|FBLN1_uc010gzz.2_Missense_Mutation_p.C536R|FBLN1_uc003bgi.1_Missense_Mutation_p.C498R	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	498	EGF-like 8; calcium-binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTCCTACCGCTGCATCAACAT	0.652													C	45944543	T	C	45944543	3	2	37	1	0	0	0	0	1	0	0	0	5698	1580	55	3	1542	3	FBLN1	22	45944543	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	262620	45944543	5360023	1116	35181											
PANX2	56666	broad.mit.edu	37	chr22	50617614	50617614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccgcctgccgcaggacGtgggggacctcatcgccatc	13	18	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:50617614G>A	uc003bjn.3	+	3	1942	c.1942G>A	c.(1942-1944)GTG>ATG	p.V648M	PANX2_uc003bjp.3_Intron|PANX2_uc003bjo.3_Intron	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	648					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		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)		GCCGCAGGACGTGGGGGACCT	0.657													A	50617614	G	A	50617614	3	1	37	1	0	0	0	0	1	0	0	0	11421	1145	40	1	1952	1	PANX2	22	50617614	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	4673071	50617614	686952	1117	35182											
SLC25A6	293	broad.mit.edu	37	chrX	1505589	1505589	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgcacccttgaagaaggccTtgcccccctcatctctgaag	8	16	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:1505589T>C	uc004cpt.2	-	4	899	c.803A>G	c.(802-804)AAG>AGG	p.K268R	SLC25A6_uc004cpu.2_RNA	NM_001636	NP_001627	P12236	ADT3_HUMAN	adenine nucleotide translocator 3	268	Solcar 3.				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GAAGAAGGCCTTGCCCCCCTC	0.617													C	1505589	T	C	1505589	3	2	37	1	0	0	0	0	1	0	0	0	14513	1609	56	3	97	3	SLC25A6	23	1505589	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08		1505589	153764971	1118	35183											
GPR143	4935	broad.mit.edu	37	chrX	9693832	9693832	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggtcaccctcatttttgTtgcaggattcacttgcagtg	10	10	3	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:9693832T>C	uc004cst.1	-	9	1229	c.1229A>G	c.(1228-1230)AAC>AGC	p.N410S		NM_000273	NP_000264	P51810	GP143_HUMAN	G protein-coupled receptor 143	390	Cytoplasmic (Potential).				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			ovary(1)	1		Hepatocellular(5;0.000888)				CTCATTTTTGTTGCAGGATTC	0.483													C	9693832	T	C	9693832	3	2	37	1	0	0	0	0	1	0	0	0	6651	1725	60	3	49	3	GPR143	23	9693832	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	8188243	9693832	145576728	1119	35184											
MOSPD2	158747	broad.mit.edu	37	chrX	14933883	14933883	+	Frame_Shift_Del	DEL	G	G	-													atatagttgtgtctccccatGggggtgagttgtcacttagt							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:14933882_14933882TG>T	uc004cwi.3	+	11	1306	c.1182_1182TG>T	c.(1180-1182)catfs	p.H394fs	MOSPD2_uc004cwj.3_Frame_Shift_Del_p.H331fs	NM_152581	NP_001170946	Q8NHP6	MSPD2_HUMAN	Homo sapiens motile sperm domain containing 2 (MOSPD2), transcript variant 1, mRNA.	394	MSP.					integral to membrane	structural molecule activity	p.P393L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					TGTCTCCCCATGGGGGTGAGT	0.517													-	14933883	G	-	14933883	7	5	37	1	0	1	0	1	0	0	0	0	9716	1348	47	0	1229	0	MOSPD2	23	14933883	Frame_Shift_Del	DEL	G	TCGA-BR-6566-01A-11D-1800-08	5240051	14933883	140336677	1120	35185											
CDKL5	6792	broad.mit.edu	37	chrX	18622574	18622574	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagggcccaaattgcggaGcccagtaccagtaggtactt	12	12	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:18622574G>A	uc004cym.2	+	12	1783	c.1530G>A	c.(1528-1530)GAG>GAA	p.E510E	CDKL5_uc004cyn.2_Silent_p.E510E	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	510					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					AAATTGCGGAGCCCAGTACCA	0.552													A	18622574	G	A	18622574	2	1	37	1	0	0	0	0	0	0	0	1	3157	962	34	2		2	CDKL5	23	18622574	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	3688691	18622574	136647986	1121	35186											
GPR64	10149	broad.mit.edu	37	chrX	19031992	19031992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgggagctgaaggctggGgtgaaaggggttgaatctcc	17	6	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:19031992G>A	uc004cyx.2	-	16	1075	c.911C>T	c.(910-912)CCC>CTC	p.P304L	GPR64_uc004cyy.2_Missense_Mutation_p.P301L|GPR64_uc004cyz.2_Missense_Mutation_p.P290L|GPR64_uc004czb.2_Missense_Mutation_p.P304L|GPR64_uc004czc.2_Missense_Mutation_p.P288L|GPR64_uc004czd.2_Missense_Mutation_p.P280L|GPR64_uc004cze.2_Missense_Mutation_p.P274L|GPR64_uc004czf.2_Missense_Mutation_p.P266L|GPR64_uc004cza.2_Missense_Mutation_p.P282L|GPR64_uc004cyw.2_Missense_Mutation_p.P288L|GPR64_uc010nfj.2_Missense_Mutation_p.P274L	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	304	Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					TGAAGGCTGGGGTGAAAGGGG	0.552													A	19031992	G	A	19031992	3	1	37	1	0	0	0	0	1	0	0	0	6705	1232	43	4	2198	4	GPR64	23	19031992	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	409418	19031992	136238568	1122	35187											
SMPX	23676	broad.mit.edu	37	chrX	21772423	21772423	+	Splice_Site	DEL	A	A	-													attcatgcagtcttatccctAaaaaaacaagtaagaaactg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:21772422_21772422TA>T	uc004daa.3	-	2	220	c.-11_splice	c.e2-1		SMPX_uc022btv.1_Splice_Site	NM_014332	NP_055147	Q9UHP9	SMPX_HUMAN	Homo sapiens small muscle protein, X-linked (SMPX), transcript variant 1, mRNA.						striated muscle contraction					breast(1)|endometrium(1)	2						GTCTTATCCCTAAAAAAACAA	0.408													-	21772423	A	-	21772423	8	5	37	1	0	1	0	1	0	0	1	0	14810	377	13	0		0	SMPX	23	21772423	Splice_Site	DEL	A	TCGA-BR-6566-01A-11D-1800-08	2740431	21772423	133498137	1123	35188											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998016	27998016	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttactatatctcctctgTccccctccatgaactggatg	6	13	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:27998016T>C	uc004dbx.1	-	1	1551	c.1436A>G	c.(1435-1437)GAC>GGC	p.D479G		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	479	WD 7.									ovary(3)|skin(1)	4						ATCTCCTCTGTCCCCCTCCAT	0.532													C	27998016	T	C	27998016	3	2	37	1	0	0	0	0	1	0	0	0	4277	1667	58	3	370	3	DCAF8L1	23	27998016	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	6225593	27998016	127272544	1124	35189											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29959813	29959813	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaggccttggtgctatacTcttgctgcttgtatgtttgg	13	7	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:29959813T>C	uc004dby.2	+	9	1611	c.1103T>C	c.(1102-1104)CTC>CCC	p.L368P		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	368	Helical; (Potential).				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						GGTGCTATACTCTTGCTGCTT	0.403													C	29959813	T	C	29959813	3	2	37	1	0	0	0	0	1	0	0	0	7661	1551	54	3	1133	3	IL1RAPL1	23	29959813	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	1961797	29959813	125310747	1125	35190											
DMD	1756	broad.mit.edu	37	chrX	32360319	32360319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccactgccattgcggcCccatcctcagacaagccctc	8	19	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:32360319C>T	uc004dda.1	-	41	6064	c.5820G>A	c.(5818-5820)GGG>GGA	p.G1940G	DMD_uc004dcw.2_Silent_p.G596G|DMD_uc004dcx.2_Silent_p.G599G|DMD_uc004dcz.2_Silent_p.G1817G|DMD_uc004dcy.1_Silent_p.G1936G|DMD_uc004ddb.1_Silent_p.G1932G|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1940	Spectrin 13.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCATTGCGGCCCCATCCTCAG	0.493													T	32360319	C	T	32360319	2	4	37	1	0	0	0	0	0	0	0	1	4580	610	22	4		4	DMD	23	32360319	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	2400506	32360319	122910241	1126	35191											
DMD	1756	broad.mit.edu	37	chrX	32466739	32466739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcgcttctttttgttggGcctcttctttagctctctga	7	11	4	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:32466739G>A	uc004dda.1	-	27	3864	c.3620C>T	c.(3619-3621)GCC>GTC	p.A1207V	DMD_uc004dcz.2_Missense_Mutation_p.A1084V|DMD_uc004dcy.1_Missense_Mutation_p.A1203V|DMD_uc004ddb.1_Missense_Mutation_p.A1199V|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1207	Spectrin 8.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTTTGTTGGGCCTCTTCTTT	0.348													A	32466739	G	A	32466739	3	1	37	1	0	0	0	0	1	0	0	0	4580	1203	42	2	7892	2	DMD	23	32466739	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	106420	32466739	122803821	1127	35192											
DYNLT3	6990	broad.mit.edu	37	chrX	37701055	37701055	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	caatatatttataggcttttCccaacttaaccaggtgtgtt	6	8	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:37701055C>G	uc004dds.2	-	3	302	c.176G>C	c.(175-177)GGA>GCA	p.G59A		NM_006520	NP_006511	P51808	DYLT3_HUMAN	dynein, light chain, Tctex-type 3	59					cell division|mitosis|regulation of mitotic cell cycle|transport	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|nucleus|plasma membrane	motor activity				0						ATAGGCTTTTCCCAACTTAAC	0.368													G	37701055	C	G	37701055	3	3	37	1	0	0	0	0	1	0	0	0	4853	855	30	5	186	5	DYNLT3	23	37701055	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	5234316	37701055	117569505	1128	35193											
SRPX	8406	broad.mit.edu	37	chrX	38033445	38033445	+	Frame_Shift_Del	DEL	T	T	-													ccttgtcagaccatcgtttgTttgactggcagatcagtagg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:38033444_38033444GT>G	uc004ddy.2	-	2	450	c.318_318AC>C	c.(316-318)aacfs	p.N106fs	SRPX_uc011mki.2_Frame_Shift_Del_p.N106fs|SRPX_uc004ddz.2_Frame_Shift_Del_p.N86fs|SRPX_uc011mkh.2_Frame_Shift_Del_p.N106fs	NM_006307	NP_006298	P78539	SRPX_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA.	106	Sushi 1.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						ACCATCGTTTGTTTGACTGGC	0.522													-	38033445	T	-	38033445	7	5	37	1	0	1	0	1	0	0	0	0	15163	1725	60	0	1109	0	SRPX	23	38033445	Frame_Shift_Del	DEL	T	TCGA-BR-6566-01A-11D-1800-08	332390	38033445	117237115	1129	35194											
USP9X	8239	broad.mit.edu	37	chrX	41025133	41025133	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttttttcaagatttttatTgaaggatggtcagctgtggc	11	4	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:41025133T>C	uc004dfb.2	+	16	2627	c.1994T>C	c.(1993-1995)TTG>TCG	p.L665S	USP9X_uc004dfc.2_Missense_Mutation_p.L665S	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	665					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						AGATTTTTATTGAAGGATGGT	0.338													C	41025133	T	C	41025133	3	2	37	1	0	0	0	0	1	0	0	0	17087	1821	63	3	2052	3	USP9X	23	41025133	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	2991688	41025133	114245427	1130	35195											
USP11	8237	broad.mit.edu	37	chrX	47101540	47101540	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgattctgtgatcgtggaCactttccacggcctcttcaa	8	12	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:47101540C>T	uc004dhp.2	+	10	1368	c.1368C>T	c.(1366-1368)GAC>GAT	p.D456D	USP11_uc004dhq.2_Silent_p.D183D	NM_004651	NP_004642	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	456					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)|lung(1)|central_nervous_system(1)	3						TGATCGTGGACACTTTCCACG	0.567													T	47101540	C	T	47101540	2	4	37	1	0	0	0	0	0	0	0	1	17039	477	17	4		4	USP11	23	47101540	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	6076407	47101540	108169020	1131	35196											
KCND1	3750	broad.mit.edu	37	chrX	48826046	48826046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacctgcgtgcagagccGcggcatgggatggtctccac	16	12	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:48826046G>A	uc004dlx.1	-	1	2206	c.633C>T	c.(631-633)CGC>CGT	p.R211R	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	211						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3						GTGCAGAGCCGCGGCATGGGA	0.582													A	48826046	G	A	48826046	2	1	37	1	0	0	0	0	0	0	0	1	8018	1074	38	1		1	KCND1	23	48826046	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	1724506	48826046	106444514	1132	35197											
GRIPAP1	56850	broad.mit.edu	37	chrX	48839705	48839705	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtcttcatgcagctctcGgagctcacgctcatagcggg	11	13	5	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:48839705G>A	uc004dly.1	-	16	1455	c.1420C>T	c.(1420-1422)CGA>TGA	p.R474*	GRIPAP1_uc004dlz.2_Nonsense_Mutation_p.R364*|GRIPAP1_uc004dma.2_Nonsense_Mutation_p.R421*	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	474	Potential.					early endosome				breast(2)|kidney(1)	3						TGCAGCTCTCGGAGCTCACGC	0.592													A	48839705	G	A	48839705	4	1	37	1	0	0	0	0	0	1	0	0	6789	1124	39	1	1203	1	GRIPAP1	23	48839705	Nonsense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	13659	48839705	106430855	1133	35198											
TFE3	7030	broad.mit.edu	37	chrX	48891239	48891239	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcacacgctctctggcttActtaggttgtgattgtcttt	9	9	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:48891239A>G	uc004dmb.3	-	7	1298	c.1060_splice	c.e7+1	p.I354_splice	TFE3_uc004dmc.3_Splice_Site_p.I249_splice|TFE3_uc004dme.1_Splice_Site	NM_006521	NP_006512	P19532	TFE3_HUMAN	transcription factor E3						humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						TCTCTGGCTTACTTAGGTTGT	0.582			T	SFPQ|ASPSCR1|PRCC|NONO|CLTC	papillary renal|alveolar soft part sarcoma|renal								G	48891239	A	G	48891239	5	3	37	1	0	0	0	0	0	0	1	0	15797	405	14	3	681	3	TFE3	23	48891239	Splice_Site	SNP	A	TCGA-BR-6566-01A-11D-1800-08	51534	48891239	106379321	1134	35199											
PRAF2	11230	broad.mit.edu	37	chrX	48931588	48931588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccggagccgccagacgcGccgaccccagaacaaagtcg	12	16	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:48931588G>A	uc004dmi.2	-	1	75	c.59C>T	c.(58-60)GCG>GTG	p.A20V	PRAF2_uc004dmh.2_5'Flank|PRAF2_uc011mmt.1_Intron	NM_007213	NP_009144	O60831	PRAF2_HUMAN	PRA1 domain family, member 2	20	Cytoplasmic (Potential).				L-glutamate transport|protein transport	endosome membrane|integral to membrane					0						CGCCAGACGCGCCGACCCCAG	0.647													A	48931588	G	A	48931588	3	1	37	1	0	0	0	0	1	0	0	0	12422	1087	38	1	489	1	PRAF2	23	48931588	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	40349	48931588	106338972	1135	35200											
RIBC1	158787	broad.mit.edu	37	chrX	53455530	53455530	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtacaacttggaaaggCaacagcaggagcaacagcaa	11	9	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:53455530C>T	uc004dsk.2	+	5	652	c.499C>T	c.(499-501)CAA>TAA	p.Q167*	RIBC1_uc004dsj.1_Nonsense_Mutation_p.Q167*|RIBC1_uc011mog.1_Intron	NM_001031745	NP_001026915	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1 isoform 1	167											0						CTTGGAAAGGCAACAGCAGGA	0.562													T	53455530	C	T	53455530	4	4	37	1	0	0	0	0	0	1	0	0	13352	711	25	2	509	2	RIBC1	23	53455530	Nonsense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	4523942	53455530	101815030	1136	35201											
HUWE1	10075	broad.mit.edu	37	chrX	53562382	53562384	+	In_Frame_Del	DEL	CTT	CTT	-													cataccaggtgtacatactcCttcttattctcctctgttac							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:53562381_53562383CCTT>C	uc004dsp.3	-	80	13013_13015	c.12611_12613AAGG>G	c.(12610-12615)aaggag>aGag	p.4204_4205KE>R	HUWE1_uc004dsn.3_In_Frame_Del_p.3012_3013KE>R	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	4204	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.L4204L(1)|p.K4094del(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGTACATACTCCTTCTTATTCTC	0.438													-	53562384	CTT	-	53562382	7	5	37	1	0	1	0	1	0	0	0	0	7461	680	24	0	528	0	HUWE1	23	53562382	In_Frame_Del	DEL	CTT	TCGA-BR-6566-01A-11D-1800-08	106852	53562382	101708178	1137	35202											
PHF8	23133	broad.mit.edu	37	chrX	54069132	54069132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacatcgtaaggcagccgGcagaggcaatacaccggcac	12	13	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:54069132G>A	uc004dsu.2	-	2	211	c.138C>T	c.(136-138)TGC>TGT	p.C46C	PHF8_uc004dst.2_Silent_p.C10C|PHF8_uc004dsw.2_Silent_p.C10C|PHF8_uc004dsy.2_Silent_p.C10C	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	46	PHD-type.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						AAGGCAGCCGGCAGAGGCAAT	0.642											OREG0019805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	54069132	G	A	54069132	2	1	37	1	0	0	0	0	0	0	0	1	11840	1195	42	2		2	PHF8	23	54069132	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	506750	54069132	101201428	1138	35203											
WNK3	65267	broad.mit.edu	37	chrX	54275628	54275628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaaataaactctgcatcCatagctggctgctgtactga	9	9	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:54275628C>T	uc004dtd.1	-	17	3592	c.3153G>A	c.(3151-3153)ATG>ATA	p.M1051I	WNK3_uc004dtc.1_Missense_Mutation_p.M1051I	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1051					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						ACTCTGCATCCATAGCTGGCT	0.453													T	54275628	C	T	54275628	3	4	37	1	0	0	0	0	1	0	0	0	17376	594	21	4	2281	4	WNK3	23	54275628	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	206496	54275628	100994932	1139	35204											
MAGED2	10916	broad.mit.edu	37	chrX	54837342	54837342	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgaagggtctcaaaggcccTaatggcctcaatggcccgca	11	14	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:54837342T>C	uc004dtk.1	+	4	720	c.626T>C	c.(625-627)CTA>CCA	p.L209P	MAGED2_uc004dtl.1_Missense_Mutation_p.L209P|MAGED2_uc004dtm.1_Intron|MAGED2_uc010nkc.1_Missense_Mutation_p.L209P|MAGED2_uc004dtn.1_Missense_Mutation_p.L209P|MAGED2_uc004dto.1_Missense_Mutation_p.L183P	NM_177433	NP_803182	Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	209										ovary(2)|breast(1)	3						TCAAAGGCCCTAATGGCCTCA	0.602													C	54837342	T	C	54837342	3	2	37	1	0	0	0	0	1	0	0	0	9184	1522	53	3	636	3	MAGED2	23	54837342	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	561714	54837342	100433218	1140	35205											
MAGEH1	28986	broad.mit.edu	37	chrX	55479097	55479097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcctgatgtctatattagCgctcatcttcatcatgggca	7	11	6	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:55479097C>T	uc004dum.2	+	1	560	c.290C>T	c.(289-291)GCG>GTG	p.A97V		NM_014061	NP_054780	Q9H213	MAGH1_HUMAN	melanoma antigen, family H, 1 protein	97	MAGE.				apoptosis					ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						TCTATATTAGCGCTCATCTTC	0.527													T	55479097	C	T	55479097	3	4	37	1	0	0	0	0	1	0	0	0	9188	768	27	1	292	1	MAGEH1	23	55479097	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	641755	55479097	99791463	1141	35206											
USP51	158880	broad.mit.edu	37	chrX	55514661	55514661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcatatgggtactacataCgtgacagatgcatgactttg	10	7	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:55514661C>T	uc004dun.1	-	2	791	c.712G>A	c.(712-714)GTA>ATA	p.V238I	USP51_uc011moo.1_Intron	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	238	UBP-type.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						GTACTACATACGTGACAGATG	0.443													T	55514661	C	T	55514661	3	4	37	1	0	0	0	0	1	0	0	0	17080	536	19	1	1427	1	USP51	23	55514661	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	35564	55514661	99755899	1142	35207											
RRAGB	10325	broad.mit.edu	37	chrX	55748712	55748712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacacacgtcgccttggcGcaacaagtaagatgttttat	10	9	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:55748712G>A	uc004dup.2	+	3	871	c.220G>A	c.(220-222)GCA>ACA	p.A74T	RRAGB_uc004duq.2_Missense_Mutation_p.A74T	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B long isoform	74					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding				0						TCGCCTTGGCGCAACAAGTAA	0.408													A	55748712	G	A	55748712	3	1	37	1	0	0	0	0	1	0	0	0	13673	1087	38	1	230	1	RRAGB	23	55748712	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	234051	55748712	99521848	1143	35208											
ZXDB	158586	broad.mit.edu	37	chrX	57620192	57620192	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagacgcacatggttaaaAggcataaggtgggccaggat	14	6	0	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:57620192A>G	uc004dvd.2	+	1	1924	c.1711A>G	c.(1711-1713)AGG>GGG	p.R571G		NM_007157	NP_009088	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	571	C2H2-type 10.|Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						CATGGTTAAAAGGCATAAGGT	0.483													G	57620192	A	G	57620192	3	3	37	1	0	0	0	0	1	0	0	0	18248	63	3	3	1713	3	ZXDB	23	57620192	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	1871480	57620192	97650368	1144	35209											
FAM123B	139285	broad.mit.edu	37	chrX	63411068	63411068	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcataacgcttctccagaGgacggaagtccctccagtct	8	14	3	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:63411068G>T	uc004dvo.2	-	2	2372	c.2099C>A	c.(2098-2100)CCT>CAT	p.P700H		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	700					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						CTTCTCCAGAGGACGGAAGTC	0.542													T	63411068	G	T	63411068	3	4	37	1	0	0	0	0	1	0	0	0	5423	1000	35	5	1312	5	FAM123B	23	63411068	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	5790876	63411068	91859492	1145	35210											
KIF4A	24137	broad.mit.edu	37	chrX	69626771	69626771	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgtgttaaagaaaagtTcctggagcaaagcatggaca	10	7	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:69626771T>C	uc004dyg.2	+	28	3228	c.3101T>C	c.(3100-3102)TTC>TCC	p.F1034S	KIF4A_uc010nkw.2_Missense_Mutation_p.F1034S	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	1034	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4						AAAGAAAAGTTCCTGGAGCAA	0.264													C	69626771	T	C	69626771	3	2	37	1	0	0	0	0	1	0	0	0	8303	1783	62	3	3207	3	KIF4A	23	69626771	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	6215703	69626771	85643789	1146	35211											
DLG3	1741	broad.mit.edu	37	chrX	69669640	69669640	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggcaggccctgtggtgcgaTtggtggtgcggaggcgacag	20	8	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:69669640T>A	uc004dyi.1	+	4	962	c.634T>A	c.(634-636)TTG>ATG	p.L212M	DLG3_uc004dyj.1_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	212	PDZ 1.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					TGTGGTGCGATTGGTGGTGCG	0.647													A	69669640	T	A	69669640	3	1	37	1	0	0	0	0	1	0	0	0	4556	1490	52	5	648	5	DLG3	23	69669640	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	42869	69669640	85600920	1147	35212											
MED12	9968	broad.mit.edu	37	chrX	70349689	70349689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgccaagtacgtgctgcGcagcatctgccaacaggtca	10	13	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:70349689G>A	uc004dyy.2	+	27	4050	c.3851G>A	c.(3850-3852)CGC>CAC	p.R1284H	MED12_uc011mpq.1_Missense_Mutation_p.R1284H|MED12_uc004dyz.2_Missense_Mutation_p.R1284H|MED12_uc004dza.2_Missense_Mutation_p.R1131H|MED12_uc010nla.2_5'UTR	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1284					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					TACGTGCTGCGCAGCATCTGC	0.562											OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	70349689	G	A	70349689	3	1	37	1	0	0	0	0	1	0	0	0	9428	1087	38	1	3957	1	MED12	23	70349689	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	680049	70349689	84920871	1148	35213											
OGT	8473	broad.mit.edu	37	chrX	70767837	70767837	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtgttttcaatgcacaAggggaaatttggcttgcaat	12	6	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:70767837A>G	uc004eaa.1	+	5	829	c.612A>G	c.(610-612)CAA>CAG	p.Q204Q	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Silent_p.Q194Q|OGT_uc004eac.2_Silent_p.Q65Q|OGT_uc004ead.2_5'UTR	NM_181672	NP_858058	O15294	OGT1_HUMAN	O-linked GlcNAc transferase isoform 1	204	TPR 5.				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			ovary(3)|kidney(1)|pancreas(1)	5	Renal(35;0.156)					TCAATGCACAAGGGGAAATTT	0.358													G	70767837	A	G	70767837	2	3	37	1	0	0	0	0	0	0	0	1	10847	69	3	3		3	OGT	23	70767837	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	418148	70767837	84502723	1149	35214											
DRP2	1821	broad.mit.edu	37	chrX	100505521	100505521	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgggtgaagtggcagcCtttgggggcagcaatgtgga	18	7	0	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:100505521C>T	uc004egz.2	+	15	2019	c.1650C>T	c.(1648-1650)GCC>GCT	p.A550A	DRP2_uc011mrh.1_Silent_p.A472A	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	550					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						AAGTGGCAGCCTTTGGGGGCA	0.483													T	100505521	C	T	100505521	2	4	37	1	0	0	0	0	0	0	0	1	4764	668	24	4		4	DRP2	23	100505521	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	29737684	100505521	54765039	1150	35215											
BEX2	84707	broad.mit.edu	37	chrX	102564886	102564886	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgagattgtttaacgctcGttcctctttggactccatta	8	9	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:102564886G>A	uc004ekb.2	-	3	258	c.19C>T	c.(19-21)CGA>TGA	p.R7*	BEX2_uc004eka.2_Nonsense_Mutation_p.R36*	NM_032621	NP_116010	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	7					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				ovary(1)	1						TTTAACGCTCGTTCCTCTTTG	0.468													A	102564886	G	A	102564886	4	1	37	1	0	0	0	0	0	1	0	0	1411	1153	40	1	371	1	BEX2	23	102564886	Nonsense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2059365	102564886	52705674	1151	35216											
SERPINA7	6906	broad.mit.edu	37	chrX	105279315	105279315	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgaacagtggtggtcttGtctattaagaagctggaact	11	6	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:105279315G>A	uc004eme.1	-	2	700	c.684C>T	c.(682-684)GAC>GAT	p.D228D	SERPINA7_uc010npd.2_Silent_p.D228D|SERPINA7_uc010npe.1_Silent_p.D228D	NM_000354	NP_000345	P05543	THBG_HUMAN	serine (or cysteine) proteinase inhibitor, clade	228					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity				0					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGTGGTCTTGTCTATTAAGA	0.408													A	105279315	G	A	105279315	2	1	37	1	0	0	0	0	0	0	0	1	14094	1368	48	4		4	SERPINA7	23	105279315	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2714429	105279315	49991245	1152	35217											
DOCK11	139818	broad.mit.edu	37	chrX	117788585	117788585	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaactgcctttcccgcagaAgtcaaagacttgaccaagag	9	12	1	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:117788585A>C	uc004eqp.2	+	43	4779	c.4716A>C	c.(4714-4716)GAA>GAC	p.E1572D	DOCK11_uc004eqq.2_Missense_Mutation_p.E1351D	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1572	DHR-2.				blood coagulation	cytosol	GTP binding			ovary(3)	3						TTCCCGCAGAAGTCAAAGACT	0.423													C	117788585	A	C	117788585	3	2	37	1	0	0	0	0	1	0	0	0	4686	69	3	5	4886	5	DOCK11	23	117788585	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	12509270	117788585	37481975	1153	35218											
PGRMC1	10857	broad.mit.edu	37	chrX	118370568	118370568	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccgccgagctgcggcgctTcgacggcgtccaggacccgc	14	19	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:118370568T>C	uc004erb.2	+	1	358	c.242T>C	c.(241-243)TTC>TCC	p.F81S	PGRMC1_uc011mts.1_Missense_Mutation_p.F81S	NM_006667	NP_006658	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	81	Cytochrome b5 heme-binding.|Cytoplasmic (Potential).					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding				0						CTGCGGCGCTTCGACGGCGTC	0.716													C	118370568	T	C	118370568	3	2	37	1	0	0	0	0	1	0	0	0	11806	1783	62	3	244	3	PGRMC1	23	118370568	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	581983	118370568	36899992	1154	35219											
ANKRD58	347454	broad.mit.edu	37	chrX	118893082	118893082	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccgatcaccggctactcggTtctgcactggctggccaagc	11	16	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:118893082T>A	uc010nql.2	+	1	507	c.452T>A	c.(451-453)GTT>GAT	p.V151D		NM_001105576	NP_001099046	A6NJG2	ANR58_HUMAN	ankyrin repeat domain 58	151	ANK 2.										0						GGCTACTCGGTTCTGCACTGG	0.692													A	118893082	T	A	118893082	3	1	37	1	0	0	0	0	1	0	0	0	684	1725	60	5	454	5	ANKRD58	23	118893082	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	522514	118893082	36377478	1155	35220											
THOC2	57187	broad.mit.edu	37	chrX	122767892	122767892	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctattcctgccattttttgtAccacttctttcaatataagc	3	11	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:122767892A>G	uc004etu.2	-	20	2080	c.2048T>C	c.(2047-2049)GTA>GCA	p.V683A	THOC2_uc011muh.1_Missense_Mutation_p.V608A	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	683					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						CATTTTTTGTACCACTTCTTT	0.328													G	122767892	A	G	122767892	3	3	37	1	0	0	0	0	1	0	0	0	15862	391	14	3	2809	3	THOC2	23	122767892	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	3874810	122767892	32502668	1156	35221											
BCORL1	63035	broad.mit.edu	37	chrX	129189854	129189854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaactggttcctcttttccGatgtcttgaagaggctgaag	11	9	2	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:129189854G>A	uc004evb.1	+	13	4993	c.4879G>A	c.(4879-4881)GAT>AAT	p.D1627N	BCORL1_uc004evc.1_Missense_Mutation_p.D463N	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1627					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						CCTCTTTTCCGATGTCTTGAA	0.562													A	129189854	G	A	129189854	3	1	37	1	0	0	0	0	1	0	0	0	1387	1058	37	1	5151	1	BCORL1	23	129189854	Missense_Mutation	SNP	G	TCGA-BR-6566-01A-11D-1800-08	6421962	129189854	26080706	1157	35222											
ENOX2	10495	broad.mit.edu	37	chrX	129801658	129801658	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggcgctacgacggttgacCtctcctcgctctatccaggt	10	14	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:129801658C>A	uc004evw.2	-	9	1258	c.840G>T	c.(838-840)GAG>GAT	p.E280D	ENOX2_uc004evx.2_Missense_Mutation_p.E251D|ENOX2_uc004evy.2_Missense_Mutation_p.E251D|ENOX2_uc004evv.2_Missense_Mutation_p.E107D	NM_182314	NP_872114	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2 isoform b	280					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			ovary(1)	1						GACGGTTGACCTCTCCTCGCT	0.448													A	129801658	C	A	129801658	3	1	37	1	0	0	0	0	1	0	0	0	5127	680	24	5	1024	5	ENOX2	23	129801658	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	611804	129801658	25468902	1158	35223											
USP26	83844	broad.mit.edu	37	chrX	132160701	132160701	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtttgaggtgaacaataagGattctaggtagcctactgaa	11	6	1	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:132160701G>A	uc010nrm.1	-	6	2018	c.1548C>T	c.(1546-1548)ATC>ATT	p.I516I	USP26_uc011mvf.1_Silent_p.I516I	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	516					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					GAACAATAAGGATTCTAGGTA	0.378													A	132160701	G	A	132160701	2	1	37	1	0	0	0	0	0	0	0	1	17054	1164	41	4		4	USP26	23	132160701	Silent	SNP	G	TCGA-BR-6566-01A-11D-1800-08	2359043	132160701	23109859	1159	35224											
ZNF449	203523	broad.mit.edu	37	chrX	134494827	134494827	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaacgcatactgaagagagAccttttaaatgtaattattg	8	5	0	4			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:134494827A>G	uc004eys.2	+	5	1548	c.1383A>G	c.(1381-1383)AGA>AGG	p.R461R	ZNF449_uc004eyt.2_Silent_p.R341R|ZNF449_uc004eyu.2_Silent_p.R267R	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	461					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAAGAGAGACCTTTTAAAT	0.393													G	134494827	A	G	134494827	2	3	37	1	0	0	0	0	0	0	0	1	17917	272	10	3		3	ZNF449	23	134494827	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	2334126	134494827	20775733	1160	35225											
MAP7D3	79649	broad.mit.edu	37	chrX	135310894	135310894	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcctcggcattcataatacCtgcagtactcttattaccag	6	13	2	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:135310894C>A	uc004ezt.2	-	11	1865	c.1774G>T	c.(1774-1776)GGT>TGT	p.G592C	MAP7D3_uc004ezs.2_Missense_Mutation_p.G556C|MAP7D3_uc011mwc.1_Missense_Mutation_p.G574C|MAP7D3_uc010nsa.1_Missense_Mutation_p.G550C	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	592	Potential.					cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TTCATAATACCTGCAGTACTC	0.403													A	135310894	C	A	135310894	3	1	37	1	0	0	0	0	1	0	0	0	9269	681	24	5	888	5	MAP7D3	23	135310894	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	816067	135310894	19959666	1161	35226											
MAP7D3	79649	broad.mit.edu	37	chrX	135314194	135314194	+	Frame_Shift_Del	DEL	G	G	-													gaatacttccacattcacctGggggggtgcatccacacttg							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:135314193_135314193TG>T	uc004ezt.3	-	7	1144	c.923_923CA>A	c.(922-924)cagfs	p.Q308fs	MAP7D3_uc004ezs.3_Frame_Shift_Del_p.Q273fs|MAP7D3_uc011mwc.2_Frame_Shift_Del_p.Q290fs|MAP7D3_uc010nsa.2_Frame_Shift_Del_p.Q266fs	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGC	0.537													-	135314194	G	-	135314194	7	5	37	1	0	1	0	1	0	0	0	0	9269	1357	47	0	1752	0	MAP7D3	23	135314194	Frame_Shift_Del	DEL	G	TCGA-BR-6566-01A-11D-1800-08	3300	135314194	19956366	1162	35227											
MAGEC1	9947	broad.mit.edu	37	chrX	140995299	140995299	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcctcttgagggagaggaCtccctgtcttctctccattt	9	12	3	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:140995299C>A	uc004fbt.2	+	4	2395	c.2109C>A	c.(2107-2109)GAC>GAA	p.D703E	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	703							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGAGAGGACTCCCTGTCTT	0.562										HNSCC(15;0.026)			A	140995299	C	A	140995299	3	1	37	1	0	0	0	0	1	0	0	0	9180	564	20	5	2115	5	MAGEC1	23	140995299	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	5681105	140995299	14275261	1163	35228											
SPANXN2	494119	broad.mit.edu	37	chrX	142795423	142795423	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgagtctaggccttcgtcCtcctcctcttggacgggatt	11	13	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:142795423C>A	uc004fbz.2	-	2	1009	c.255G>T	c.(253-255)GAG>GAT	p.E85D		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	SPANX-N2 protein	85										ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTTCGTCCTCCTCCTCTT	0.478													A	142795423	C	A	142795423	3	1	37	1	0	0	0	0	1	0	0	0	14991	680	24	5	291	5	SPANXN2	23	142795423	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	1800124	142795423	12475137	1164	35229											
SLITRK2	84631	broad.mit.edu	37	chrX	144904104	144904104	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaaggatttacaacagTtagcctgctccagccccccc	7	15	0	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:144904104T>G	uc004fcd.2	+	5	1151	c.161T>G	c.(160-162)GTT>GGT	p.V54G	SLITRK2_uc010nsp.2_Missense_Mutation_p.V54G|SLITRK2_uc010nso.2_Missense_Mutation_p.V54G|SLITRK2_uc011mwq.1_Missense_Mutation_p.V54G|SLITRK2_uc011mwr.1_Missense_Mutation_p.V54G|SLITRK2_uc011mws.1_Missense_Mutation_p.V54G|SLITRK2_uc004fcg.2_Missense_Mutation_p.V54G|SLITRK2_uc011mwt.1_Missense_Mutation_p.V54G	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	54	Extracellular (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					TTTACAACAGTTAGCCTGCTC	0.423													G	144904104	T	G	144904104	3	3	37	1	0	0	0	0	1	0	0	0	14743	1725	60	5	163	5	SLITRK2	23	144904104	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	2108681	144904104	10366456	1165	35230											
AFF2	2334	broad.mit.edu	37	chrX	148038101	148038101	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcgtcagacagctgtcacAgctgtggagaaaccagcccc	11	13	2	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:148038101A>G	uc004fcp.2	+	11	3005	c.2526A>G	c.(2524-2526)ACA>ACG	p.T842T	AFF2_uc004fcq.2_Silent_p.T832T|AFF2_uc004fcr.2_Silent_p.T803T|AFF2_uc011mxb.1_Silent_p.T807T|AFF2_uc004fcs.2_Silent_p.T809T|AFF2_uc011mxc.1_Silent_p.T483T	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	842					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTGTCACAGCTGTGGAGA	0.527													G	148038101	A	G	148038101	2	3	37	1	0	0	0	0	0	0	0	1	357	175	7	3		3	AFF2	23	148038101	Silent	SNP	A	TCGA-BR-6566-01A-11D-1800-08	3133997	148038101	7232459	1166	35231											
MAGEA10	4109	broad.mit.edu	37	chrX	151303514	151303514	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagtggccagtgggatccacTtcctttacatcaatgccaaa	9	11	1	0			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:151303514T>A	uc004ffk.2	-	5	987	c.579A>T	c.(577-579)GAA>GAT	p.E193D	MAGEA10_uc004ffl.2_Missense_Mutation_p.E193D	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	193	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGATCCACTTCCTTTACAT	0.498													A	151303514	T	A	151303514	3	1	37	1	0	0	0	0	1	0	0	0	9164	1606	56	5	534	5	MAGEA10	23	151303514	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	3265413	151303514	3967046	1167	35232											
CSAG1	158511	broad.mit.edu	37	chrX	151908803	151908804	+	Frame_Shift_Ins	INS	-	-	G													ggcctgccttcactgtcctgINSggggaagctcggggagacca							TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:151908802_151908803T>TG	uc004fge.3	+	3	369_370	c.41_42T>TG	c.(40-42)ctgfs	p.L14fs	CSAG1_uc004fgf.3_Frame_Shift_Ins_p.L14fs|CSAG1_uc004fgd.3_Non-coding_Transcript	NM_153478	NP_705611	Q6PB30	CSAG1_HUMAN	Homo sapiens chondrosarcoma associated gene 1 (CSAG1), transcript variant a, mRNA.	14										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					ttCACTGTCCTGGGGGAAGCTC	0.5													G	151908804	-	G	151908803	7	5	37	1	0	1	1	0	0	0	0	0	3926	1335	47	0	48	0	CSAG1	23	151908803	Frame_Shift_Ins	INS	-	TCGA-BR-6566-01A-11D-1800-08	605289	151908803	3361757	1168	35233											
PNMA5	114824	broad.mit.edu	37	chrX	152159455	152159455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaagatctgctttagggCgtcaaggcactgctccacag	10	13	2	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:152159455C>T	uc010ntw.2	-	3	1027	c.688G>A	c.(688-690)GCC>ACC	p.A230T	PNMA5_uc004fha.3_Missense_Mutation_p.A230T|PNMA5_uc010ntx.2_Missense_Mutation_p.A230T|PNMA5_uc004fgy.3_Missense_Mutation_p.A230T	NM_001103151	NP_001096621	Q96PV4	PNMA5_HUMAN	paraneoplastic antigen like 5	230					apoptosis					ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTTTAGGGCGTCAAGGCAC	0.522													T	152159455	C	T	152159455	3	4	37	1	0	0	0	0	1	0	0	0	12156	768	27	1	662	1	PNMA5	23	152159455	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	250652	152159455	3111105	1169	35234											
HAUS7	55559	broad.mit.edu	37	chrX	152721108	152721108	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagctcgtcgtcgtagacTtggagaaaagccaagattag	11	10	0	3			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:152721108T>G	uc004fho.1	-	8	1410	c.852A>C	c.(850-852)CAA>CAC	p.Q284H	HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_Splice_Site|HAUS7_uc004fhn.1_Missense_Mutation_p.Q284H|HAUS7_uc004fhp.1_Splice_Site	NM_017518	NP_059988	Q99871	HAUS7_HUMAN	HAUS augmin-like complex subunit 7	284					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding				0						CGTCGTAGACTTGGAGAAAAG	0.627													G	152721108	T	G	152721108	3	3	37	1	0	0	0	0	1	0	0	0	6971	1606	56	5	266	5	HAUS7	23	152721108	Missense_Mutation	SNP	T	TCGA-BR-6566-01A-11D-1800-08	561653	152721108	2549452	1170	35235											
SLC6A8	6535	broad.mit.edu	37	chrX	152958537	152958537	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcccctacgtggtcctggtCgtgctgctggtgcgtggagt	15	11	0	0	rs143750068	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:152958537C>T	uc004fib.3	+	5	1097	c.819C>T	c.(817-819)GTC>GTT	p.V273V	SLC6A8_uc004fic.3_Silent_p.V273V|SLC6A8_uc011myx.1_Silent_p.V158V|SLC6A8_uc010nuj.2_RNA	NM_005629	NP_005620	P48029	SC6A8_HUMAN	solute carrier family 6 member 8 isoform 1	273	Helical; (Potential).				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TGGTCCTGGTCGTGCTGCTGG	0.622													T	152958537	C	T	152958537	2	4	37	1	0	0	0	0	0	0	0	1	14690	871	31	1		1	SLC6A8	23	152958537	Silent	SNP	C	TCGA-BR-6566-01A-11D-1800-08	237429	152958537	2312023	1171	35236											
ABCD1	215	broad.mit.edu	37	chrX	152991361	152991361	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggcccacctctactccAacctgaccaagccactcctg	6	19	1	1			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:152991361A>G	uc004fif.2	+	1	1039	c.640A>G	c.(640-642)AAC>GAC	p.N214D	BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank	NM_000033	NP_000024	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member	214	ABC transmembrane type-1.		N -> D (in X-ALD).		fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTACTCCAACCTGACCAA	0.672													G	152991361	A	G	152991361	3	3	37	1	0	0	0	0	1	0	0	0	60	130	5	3	642	3	ABCD1	23	152991361	Missense_Mutation	SNP	A	TCGA-BR-6566-01A-11D-1800-08	32824	152991361	2279199	1172	35237											
PLXNA3	55558	broad.mit.edu	37	chrX	153696164	153696164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcacatctcggcagagCgggcgctgaccctaccggcc	12	18	1	2			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:153696164C>T	uc004flm.2	+	21	3813	c.3640C>T	c.(3640-3642)CGG>TGG	p.R1214W		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	1214	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCGGCAGAGCGGGCGCTGAC	0.692													T	153696164	C	T	153696164	3	4	37	1	0	0	0	0	1	0	0	0	12121	759	27	1	3718	1	PLXNA3	23	153696164	Missense_Mutation	SNP	C	TCGA-BR-6566-01A-11D-1800-08	704803	153696164	1574396	1173	35238											
PLOD1	5351	broad.mit.edu	37	chr1	12008083	12008083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggagaccgagggattccgtCgcttcaagcgctcagctcag	13	12	3	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr1:12008083C>T	uc001atm.2	+	2	218	c.127C>T	c.(127-129)CGC>TGC	p.R43C	PLOD1_uc010obb.1_Missense_Mutation_p.R90C	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	lysyl hydroxylase 1 precursor	43					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			ovary(2)|breast(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGGATTCCGTCGCTTCAAGCG	0.552													T	12008083	C	T	12008083	3	4	38	1	0	0	0	0	1	0	0	0	12101	884	31	1	133	1	PLOD1	1	12008083	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08		12008083	237242538	1	35239											
EPB41	2035	broad.mit.edu	37	chr1	29391555	29391555	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagcatcagtgagctgaaaaAgaacttcatggagtctgtac	10	8	3	3			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr1:29391555A>T	uc001brm.1	+	15	2076	c.2069A>T	c.(2068-2070)AAG>ATG	p.K690M	EPB41_uc001brg.1_Missense_Mutation_p.K467M|EPB41_uc001brh.1_Missense_Mutation_p.K448M|EPB41_uc001bri.1_Missense_Mutation_p.K601M|EPB41_uc001brj.1_Missense_Mutation_p.K427M|EPB41_uc001brk.2_Missense_Mutation_p.K676M|EPB41_uc001brl.1_Missense_Mutation_p.K657M|EPB41_uc009vtl.1_Missense_Mutation_p.K427M|EPB41_uc009vtm.1_Missense_Mutation_p.K269M	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	690	Spectrin--actin-binding.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			ovary(1)	1		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GAGCTGAAAAAGAACTTCATG	0.418													T	29391555	A	T	29391555	3	4	38	1	0	0	0	0	1	0	0	0	5151	72	3	5	2127	5	EPB41	1	29391555	Missense_Mutation	SNP	A	TCGA-BR-6705-01A-12D-1882-08	17383472	29391555	219859066	2	35240											
POU3F1	5453	broad.mit.edu	37	chr1	38511541	38511541	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcctcgaagcggcagatgGtggtctgcgagaacacgtta	16	9	1	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr1:38511541G>T	uc001ccp.1	-	1	910	c.875C>A	c.(874-876)ACC>AAC	p.T292N		NM_002699	NP_002690	Q03052	PO3F1_HUMAN	POU domain, class 3, transcription factor 1	292	POU-specific.				positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCGGCAGATGGTGGTCTGCGA	0.627													T	38511541	G	T	38511541	3	4	38	1	0	0	0	0	1	0	0	0	12274	1261	44	5	484	5	POU3F1	1	38511541	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	9119986	38511541	210739080	3	35241											
CHIA	27159	broad.mit.edu	37	chr1	111862929	111862929	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagctctggaggcagctcGggaggcagtggattctgtgc	17	9	2	0	rs35242709	byFrequency	TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr1:111862929G>T	uc001eas.2	+	12	1375	c.1272G>T	c.(1270-1272)TCG>TCT	p.S424S	CHIA_uc001ear.2_Silent_p.S316S|CHIA_uc001eaq.2_Silent_p.S316S|CHIA_uc009wgc.2_Silent_p.S316S|CHIA_uc001eat.2_Silent_p.S263S|CHIA_uc001eav.2_Silent_p.S263S|CHIA_uc001eau.2_Silent_p.S263S|CHIA_uc009wgd.2_Silent_p.S263S	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN	acidic chitinase isoform c	424					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			ovary(1)	1		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GAGGCAGCTCGGGAGGCAGTG	0.592													T	111862929	G	T	111862929	2	4	38	1	0	0	0	0	0	0	0	1	3342	1103	39	5		5	CHIA	1	111862929	Silent	SNP	G	TCGA-BR-6705-01A-12D-1882-08	73351388	111862929	137387692	4	35242											
CD1D	912	broad.mit.edu	37	chr1	158151974	158151974	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggccccactttgggtaaacTtggccattcaagtgctcaac	9	12	2	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr1:158151974T>G	uc001frr.2	+	4	980	c.481T>G	c.(481-483)TTG>GTG	p.L161V	CD1D_uc009wsr.1_Missense_Mutation_p.L161V|CD1D_uc009wss.2_Missense_Mutation_p.L161V|CD1D_uc009wst.1_Missense_Mutation_p.L57V	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	161	Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			ovary(1)	1	all_hematologic(112;0.0378)					TTGGGTAAACTTGGCCATTCA	0.493													G	158151974	T	G	158151974	3	3	38	1	0	0	0	0	1	0	0	0	2977	1606	56	5	491	5	CD1D	1	158151974	Missense_Mutation	SNP	T	TCGA-BR-6705-01A-12D-1882-08	46289045	158151974	91098647	5	35243											
OR10R2	343406	broad.mit.edu	37	chr1	158449804	158449804	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttggtgaaattcagctggCcctctttgtagtttttcttt	8	9	3	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr1:158449804C>A	uc010pik.1	+	1	137	c.137C>A	c.(136-138)GCC>GAC	p.A46D	uc001fso.1_RNA	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	46	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)					ATTCAGCTGGCCCTCTTTGTA	0.438													A	158449804	C	A	158449804	3	1	38	1	0	0	0	0	1	0	0	0	10917	739	26	5	139	5	OR10R2	1	158449804	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	297830	158449804	90800817	6	35244											
SPTA1	6708	broad.mit.edu	37	chr1	158646087	158646087	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcacataactccttcaccTttgggatgaaaaagaaacct	6	10	1	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr1:158646087T>G	uc001fst.1	-	8	1157	c.958_splice	c.e8-1	p.V320_splice		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CTCCTTCACCTTTGGGATGAA	0.423													G	158646087	T	G	158646087	5	3	38	1	0	0	0	0	0	0	1	0	15115	1623	56	5	6483	5	SPTA1	1	158646087	Splice_Site	SNP	T	TCGA-BR-6705-01A-12D-1882-08	196283	158646087	90604534	7	35245											
USH2A	7399	broad.mit.edu	37	chr1	215901420	215901420	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttaaatgtaggatcgtcGggtctctcctggtagaccac	11	10	1	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr1:215901420G>A	uc001hku.1	-	61	12405	c.12018C>T	c.(12016-12018)CCC>CCT	p.P4006P		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4006	Fibronectin type-III 25.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGGATCGTCGGGTCTCTCCT	0.458										HNSCC(13;0.011)			A	215901420	G	A	215901420	2	1	38	1	0	0	0	0	0	0	0	1	17033	1103	39	1		1	USH2A	1	215901420	Silent	SNP	G	TCGA-BR-6705-01A-12D-1882-08	57255333	215901420	33349201	8	35246											
FBXO28	23219	broad.mit.edu	37	chr1	224345314	224345314	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagctagaacgcaaactaCgagaagtaatggaaagtgct	11	7	0	3			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr1:224345314C>T	uc001hoh.2	+	5	1014	c.973C>T	c.(973-975)CGA>TGA	p.R325*	FBXO28_uc009xef.2_3'UTR|FBXO28_uc010pvc.1_Nonsense_Mutation_p.R120*	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	F-box protein 28 isoform a	325										ovary(2)|kidney(2)|lung(1)	5	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		ACGCAAACTACGAGAAGTAAT	0.488													T	224345314	C	T	224345314	4	4	38	1	0	0	0	0	0	1	0	0	5738	528	19	1	991	1	FBXO28	1	224345314	Nonsense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	8443894	224345314	24905307	9	35247											
OR2AK2	391191	broad.mit.edu	37	chr1	248129101	248129101	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttatgagcaagaagatctgCtgcctcatggttgcatgtgc	11	9	2	3			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr1:248129101C>A	uc010pzd.1	+	1	468	c.468C>A	c.(466-468)TGC>TGA	p.C156*	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	156	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGAAGATCTGCTGCCTCATGG	0.428													A	248129101	C	A	248129101	4	1	38	1	0	0	0	0	0	1	0	0	10986	805	28	5	470	5	OR2AK2	1	248129101	Nonsense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	23783787	248129101	1121520	10	35248											
OR2M5	127059	broad.mit.edu	37	chr1	248308962	248308962	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttctcctactgtgggtcTcgggaaatagcccacttctt	8	13	3	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr1:248308962T>C	uc010pze.1	+	1	513	c.513T>C	c.(511-513)TCT>TCC	p.S171S		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	171	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ACTGTGGGTCTCGGGAAATAG	0.438													C	248308962	T	C	248308962	2	2	38	1	0	0	0	0	0	0	0	1	11013	1538	54	3		3	OR2M5	1	248308962	Silent	SNP	T	TCGA-BR-6705-01A-12D-1882-08	179861	248308962	941659	11	35249											
APOB	338	broad.mit.edu	37	chr2	21265256	21265256	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagttgatcctggtggcacTtcttgaatcagcagtcccag	11	11	2	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr2:21265256T>G	uc002red.2	-	3	342	c.214A>C	c.(214-216)AGT>CGT	p.S72R		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	72	Vitellogenin.|Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGGTGGCACTTCTTGAATCA	0.572													G	21265256	T	G	21265256	3	3	38	1	0	0	0	0	1	0	0	0	785	1609	56	5	13585	5	APOB	2	21265256	Missense_Mutation	SNP	T	TCGA-BR-6705-01A-12D-1882-08		21265256	221934117	12	35250											
PREPL	9581	broad.mit.edu	37	chr2	44566387	44566387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattcgcttctggataagtaCtggtgggtcccaagggctca	12	9	2	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr2:44566387C>T	uc002ruf.2	-	6	903	c.868G>A	c.(868-870)GTA>ATA	p.V290I	PREPL_uc002rug.2_Missense_Mutation_p.V290I|PREPL_uc002ruh.2_Missense_Mutation_p.V290I|PREPL_uc010fax.2_Missense_Mutation_p.V290I|PREPL_uc002rui.3_Missense_Mutation_p.V201I|PREPL_uc002ruj.1_Missense_Mutation_p.V201I|PREPL_uc002ruk.1_Missense_Mutation_p.V290I	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like isoform C	290					proteolysis	cytosol	serine-type endopeptidase activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGATAAGTACTGGTGGGTCC	0.388													T	44566387	C	T	44566387	3	4	38	1	0	0	0	0	1	0	0	0	12475	565	20	4	1351	4	PREPL	2	44566387	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	23301131	44566387	198632986	13	35251											
TSPYL6	388951	broad.mit.edu	37	chr2	54482198	54482198	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctttaataatctgagcaatcCtgtcggactctggaaggctg	10	9	2	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr2:54482198C>G	uc002rxr.2	-	1	1212	c.1091G>C	c.(1090-1092)AGG>ACG	p.R364T	ACYP2_uc002rxq.3_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	TSPY-like 6	364					nucleosome assembly	nucleus					0						CTGAGCAATCCTGTCGGACTC	0.532													G	54482198	C	G	54482198	3	3	38	1	0	0	0	0	1	0	0	0	16660	681	24	5	145	5	TSPYL6	2	54482198	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	9915811	54482198	188717175	14	35252											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73316188	73316188	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggaagaagcctttggctttGcccatcttgcccaggctgcc	11	13	1	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr2:73316188G>C	uc002siu.3	-	2	928	c.687C>G	c.(685-687)GGC>GGG	p.G229G	RAB11FIP5_uc002sit.3_Silent_p.G151G	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	229					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding				0						CTTTGGCTTTGCCCATCTTGC	0.592													C	73316188	G	C	73316188	2	2	38	1	0	0	0	0	0	0	0	1	12897	1306	46	5		5	RAB11FIP5	2	73316188	Silent	SNP	G	TCGA-BR-6705-01A-12D-1882-08	18833990	73316188	169883185	15	35253											
GPD2	2820	broad.mit.edu	37	chr2	157407168	157407168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgccacgggacctttcaCggactctgtgcgcaaaatgg	11	12	2	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr2:157407168C>T	uc002tzf.3	+	8	1241	c.881C>T	c.(880-882)ACG>ATG	p.T294M	GPD2_uc010zch.1_Missense_Mutation_p.T67M|GPD2_uc002tzd.3_Missense_Mutation_p.T294M|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	294					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1						GGACCTTTCACGGACTCTGTG	0.463													T	157407168	C	T	157407168	3	4	38	1	0	0	0	0	1	0	0	0	6606	536	19	1	907	1	GPD2	2	157407168	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	84090980	157407168	85792205	16	35254											
TTN	7273	broad.mit.edu	37	chr2	179610671	179610671	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccattaaactgcttaaagTcactttgcttttctttgcta	4	9	2	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr2:179610671T>C	uc002unb.2	-	46	16680	c.16456A>G	c.(16456-16458)ACT>GCT	p.T5486A	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCTTAAAGTCACTTTGCTT	0.423													C	179610671	T	C	179610671	3	2	38	1	0	0	0	0	1	0	0	0	16732	1667	58	3	93841	3	TTN	2	179610671	Missense_Mutation	SNP	T	TCGA-BR-6705-01A-12D-1882-08	22203503	179610671	63588702	17	35255											
ERBB4	2066	broad.mit.edu	37	chr2	213403244	213403244	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccagacccaaagtcctgtcGccggcttcattttttggaag	9	13	1	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr2:213403244G>T	uc002veg.1	-	1	109	c.11C>A	c.(10-12)GCG>GAG	p.A4E	ERBB4_uc002veh.1_Missense_Mutation_p.A4E|ERBB4_uc010zji.1_Missense_Mutation_p.A4E|ERBB4_uc010zjj.1_Missense_Mutation_p.A4E|ERBB4_uc010fut.1_Missense_Mutation_p.A4E	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	4					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AAGTCCTGTCGCCGGCTTCAT	0.582										TSP Lung(8;0.080)			T	213403244	G	T	213403244	3	4	38	1	0	0	0	0	1	0	0	0	5209	1087	38	5	4027	5	ERBB4	2	213403244	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	33792573	213403244	29796129	18	35256											
IL17RE	132014	broad.mit.edu	37	chr3	9952952	9952952	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcagttctcttttggaaAcagcagccatgttgaatgcc	8	10	2	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr3:9952952A>G	uc003btu.2	+	12	1157	c.1040A>G	c.(1039-1041)AAC>AGC	p.N347S	CIDEC_uc003bto.2_Intron|IL17RE_uc011atn.1_RNA|IL17RE_uc003btw.2_Missense_Mutation_p.N347S|IL17RE_uc003btx.2_Missense_Mutation_p.N231S|IL17RE_uc010hcq.2_Missense_Mutation_p.N347S|IL17RE_uc003bty.2_RNA	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E isoform 1	347	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane	receptor activity			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		TCTTTTGGAAACAGCAGCCAT	0.493													G	9952952	A	G	9952952	3	3	38	1	0	0	0	0	1	0	0	0	7643	43	2	3	1082	3	IL17RE	3	9952952	Missense_Mutation	SNP	A	TCGA-BR-6705-01A-12D-1882-08		9952952	188069478	19	35257											
RFTN1	23180	broad.mit.edu	37	chr3	16419336	16419336	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctccctctccggagggtgAgctgggctgcttggcgaggg	17	11	2	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr3:16419336A>G	uc003cay.2	-	5	997	c.715T>C	c.(715-717)TCA>CCA	p.S239P	RFTN1_uc010hes.2_Missense_Mutation_p.S203P	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	239						plasma membrane				ovary(3)|central_nervous_system(1)	4						CCGGAGGGTGAGCTGGGCTGC	0.642													G	16419336	A	G	16419336	3	3	38	1	0	0	0	0	1	0	0	0	13258	304	11	3	1045	3	RFTN1	3	16419336	Missense_Mutation	SNP	A	TCGA-BR-6705-01A-12D-1882-08	6466384	16419336	181603094	20	35258											
SCN5A	6331	broad.mit.edu	37	chr3	38591857	38591857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggagaaggggggaagtcGgcgagatcttcactgtggct	17	8	2	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr3:38591857G>A	uc003cio.2	-	28	6200	c.6006C>T	c.(6004-6006)GCC>GCT	p.A2002A	SCN5A_uc003cin.2_Silent_p.A2001A|SCN5A_uc003cil.3_Silent_p.A2002A|SCN5A_uc010hhi.2_Silent_p.A1984A|SCN5A_uc010hhk.2_Silent_p.A1969A|SCN5A_uc011ayr.1_Silent_p.A1948A	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	2002					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGGGGAAGTCGGCGAGATCTT	0.592													A	38591857	G	A	38591857	2	1	38	1	0	0	0	0	0	0	0	1	13922	1103	39	1		1	SCN5A	3	38591857	Silent	SNP	G	TCGA-BR-6705-01A-12D-1882-08	22172521	38591857	159430573	21	35259											
LRIG1	26018	broad.mit.edu	37	chr3	66430710	66430710	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctttttggtgccaacagcaGtggcaccctctgtttcccgg	11	13	1	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr3:66430710G>C	uc003dmx.2	-	19	3273	c.3259C>G	c.(3259-3261)CTG>GTG	p.L1087V	SLC25A26_uc011bft.1_RNA|LRIG1_uc011bfu.1_Missense_Mutation_p.L707V|LRIG1_uc003dmw.2_Missense_Mutation_p.L753V|LRIG1_uc010hnz.2_Missense_Mutation_p.L803V|LRIG1_uc010hoa.2_Missense_Mutation_p.L1064V	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	1087	Cytoplasmic (Potential).					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCCAACAGCAGTGGCACCCTC	0.547													C	66430710	G	C	66430710	3	2	38	1	0	0	0	0	1	0	0	0	8944	1020	36	5	26	5	LRIG1	3	66430710	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	27838853	66430710	131591720	22	35260											
TMPRSS7	344805	broad.mit.edu	37	chr3	111799889	111799889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttacacaagggtgtcaaaCtttgttccctggattcataa	8	8	2	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr3:111799889C>T	uc010hqb.2	+	16	2282	c.2112C>T	c.(2110-2112)AAC>AAT	p.N704N	TMPRSS7_uc011bhr.1_Silent_p.N559N	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	830	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			ovary(1)|kidney(1)	2						GGGTGTCAAACTTTGTTCCCT	0.353													T	111799889	C	T	111799889	2	4	38	1	0	0	0	0	0	0	0	1	16249	564	20	4		4	TMPRSS7	3	111799889	Silent	SNP	C	TCGA-BR-6705-01A-12D-1882-08	45369179	111799889	86222541	23	35261											
GOLGB1	2804	broad.mit.edu	37	chr3	121448138	121448138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagttaatttggccttcGcatgaagttttagtttttta	8	4	0	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr3:121448138G>A	uc003eei.3	-	4	425	c.299C>T	c.(298-300)GCG>GTG	p.A100V	GOLGB1_uc010hrc.2_Missense_Mutation_p.A100V|GOLGB1_uc003eej.3_Missense_Mutation_p.A61V|GOLGB1_uc011bjm.1_Missense_Mutation_p.A61V|GOLGB1_uc010hrd.1_Missense_Mutation_p.A100V	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	100	Potential.|Cytoplasmic (Potential).				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TTTGGCCTTCGCATGAAGTTT	0.363													A	121448138	G	A	121448138	3	1	38	1	0	0	0	0	1	0	0	0	6565	1087	38	1	9556	1	GOLGB1	3	121448138	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	9648249	121448138	76574292	24	35262											
EPHB1	2047	broad.mit.edu	37	chr3	134920329	134920329	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attacagcaaaatgacgggcAgttcaccgtgatccagcttg	10	10	1	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr3:134920329A>T	uc003eqt.2	+	12	2364	c.2144A>T	c.(2143-2145)CAG>CTG	p.Q715L	EPHB1_uc003equ.2_Missense_Mutation_p.Q276L	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	715	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						AATGACGGGCAGTTCACCGTG	0.527													T	134920329	A	T	134920329	3	4	38	1	0	0	0	0	1	0	0	0	5174	188	7	5	2190	5	EPHB1	3	134920329	Missense_Mutation	SNP	A	TCGA-BR-6705-01A-12D-1882-08	13472191	134920329	63102101	25	35263											
PLSCR5	389158	broad.mit.edu	37	chr3	146311762	146311762	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atctcaagggcctgttcactGtaatgacctctcgacctgag	9	12	3	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr3:146311762G>C	uc003ewb.2	-	4	1402	c.398C>G	c.(397-399)ACA>AGA	p.T133R	PLSCR5_uc010hvb.2_Missense_Mutation_p.T121R|PLSCR5_uc010hvc.2_Missense_Mutation_p.T133R	NM_001085420	NP_001078889	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	133											0						CCTGTTCACTGTAATGACCTC	0.463													C	146311762	G	C	146311762	3	2	38	1	0	0	0	0	1	0	0	0	12113	1377	48	5	433	5	PLSCR5	3	146311762	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	11391433	146311762	51710668	26	35264											
NMD3	51068	broad.mit.edu	37	chr3	160945104	160945104	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaacttcttgctttgtgcttGaaaaaaatcaaagcccctct	6	10	3	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr3:160945104G>C	uc003feb.1	+	4	368	c.249G>C	c.(247-249)TTG>TTC	p.L83F	NMD3_uc003fec.2_Missense_Mutation_p.L83F|NMD3_uc003fed.1_Missense_Mutation_p.L83F	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	NMD3 homolog	83					protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CTTTGTGCTTGAAAAAAATCA	0.343													C	160945104	G	C	160945104	3	2	38	1	0	0	0	0	1	0	0	0	10488	1281	45	5	259	5	NMD3	3	160945104	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	14633342	160945104	37077326	27	35265											
WDR49	151790	broad.mit.edu	37	chr3	167254760	167254760	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgaaaaattgattgaAgttttggggtcgaaacacag	12	4	0	3			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr3:167254760A>G	uc003fev.1	-	7	1102	c.796T>C	c.(796-798)TTC>CTC	p.F266L	WDR49_uc003feu.1_Missense_Mutation_p.F91L|WDR49_uc011bpd.1_Missense_Mutation_p.F330L|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	266										large_intestine(1)|ovary(1)|skin(1)	3						AATTGATTGAAGTTTTGGGGT	0.393													G	167254760	A	G	167254760	3	3	38	1	0	0	0	0	1	0	0	0	17299	72	3	3	1333	3	WDR49	3	167254760	Missense_Mutation	SNP	A	TCGA-BR-6705-01A-12D-1882-08	6309656	167254760	30767670	28	35266											
LPP	4026	broad.mit.edu	37	chr3	188327328	188327328	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acctccttcaacacggggagGcatggattatgcctacattc	9	12	1	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr3:188327328G>C	uc003frs.1	+	6	1055	c.809G>C	c.(808-810)GGC>GCC	p.G270A	LPP_uc011bsg.1_Intron|LPP_uc011bsi.1_Missense_Mutation_p.G270A|LPP_uc003frt.2_Missense_Mutation_p.G270A|LPP_uc011bsj.1_Missense_Mutation_p.G107A	NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	270	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		ACACGGGGAGGCATGGATTAT	0.557			T	HMGA2|MLL|C12orf9	lipoma|leukemia								C	188327328	G	C	188327328	3	2	38	1	0	0	0	0	1	0	0	0	8923	1203	42	5	823	5	LPP	3	188327328	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	21072568	188327328	9695102	29	35267											
ATP13A5	344905	broad.mit.edu	37	chr3	193007764	193007764	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggagaaacaggaattcaaaAatattgaaagcagtaaaggg	11	3	1	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr3:193007764A>T	uc011bsq.1	-	26	2933	c.2933T>A	c.(2932-2934)TTT>TAT	p.F978Y		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	978	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGAATTCAAAAATATTGAAAG	0.433													T	193007764	A	T	193007764	3	4	38	1	0	0	0	0	1	0	0	0	1127	14	1	5	741	5	ATP13A5	3	193007764	Missense_Mutation	SNP	A	TCGA-BR-6705-01A-12D-1882-08	4680436	193007764	5014666	30	35268											
ZNF518B	85460	broad.mit.edu	37	chr4	10445492	10445492	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttaaaggctgtaagtctgAgtccgcctgtctcacagggc	11	11	3	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr4:10445492A>C	uc003gmn.2	-	3	2948	c.2461T>G	c.(2461-2463)TCA>GCA	p.S821A		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	821					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4						TGTAAGTCTGAGTCCGCCTGT	0.468													C	10445492	A	C	10445492	3	2	38	1	0	0	0	0	1	0	0	0	17960	304	11	5	767	5	ZNF518B	4	10445492	Missense_Mutation	SNP	A	TCGA-BR-6705-01A-12D-1882-08		10445492	180708784	31	35269											
CWH43	80157	broad.mit.edu	37	chr4	49005981	49005981	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtcccaggaggtgtctaCgctagagaaagatcagatgt	12	7	2	3	rs151323921		TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr4:49005981C>T	uc003gyv.2	+	7	1214	c.1032C>T	c.(1030-1032)TAC>TAT	p.Y344Y	CWH43_uc011bzl.1_Silent_p.Y317Y	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog	344					GPI anchor biosynthetic process	integral to membrane				skin(2)|ovary(1)	3						GAGGTGTCTACGCTAGAGAAA	0.393													T	49005981	C	T	49005981	2	4	38	1	0	0	0	0	0	0	0	1	4073	547	19	1		1	CWH43	4	49005981	Silent	SNP	C	TCGA-BR-6705-01A-12D-1882-08	38560489	49005981	142148295	32	35270											
LPHN3	23284	broad.mit.edu	37	chr4	62903555	62903555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttctcgaactcctggacGctactccacaggctcacagg	10	14	2	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr4:62903555G>A	uc010ihh.2	+	21	3667	c.3494G>A	c.(3493-3495)CGC>CAC	p.R1165H	LPHN3_uc003hcq.3_Missense_Mutation_p.R1165H|LPHN3_uc003hct.2_Missense_Mutation_p.R549H	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	1143	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						ACTCCTGGACGCTACTCCACA	0.413													A	62903555	G	A	62903555	3	1	38	1	0	0	0	0	1	0	0	0	8917	1087	38	1	3576	1	LPHN3	4	62903555	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	13897574	62903555	128250721	33	35271											
CXCL9	4283	broad.mit.edu	37	chr4	76924788	76924788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacgagaacgttgagattttCgaactttcagaactttcttt	8	7	2	3	rs139830877		TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr4:76924788C>T	uc003hjh.1	-	4	380	c.341G>A	c.(340-342)CGA>CAA	p.R114Q		NM_002416	NP_002407	Q07325	CXCL9_HUMAN	small inducible cytokine B9 precursor	114					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			ovary(1)	1			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTGAGATTTTCGAACTTTCAG	0.338													T	76924788	C	T	76924788	3	4	38	1	0	0	0	0	1	0	0	0	4089	884	31	1	40	1	CXCL9	4	76924788	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	14021233	76924788	114229488	34	35272											
IRX1	79192	broad.mit.edu	37	chr5	3599410	3599410	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccacacggcgccggcTtattacccctacggccagtt	10	17	0	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr5:3599410T>C	uc003jde.2	+	2	400	c.348T>C	c.(346-348)GCT>GCC	p.A116A		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	116						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						CGGCGCCGGCTTATTACCCCT	0.652													C	3599410	T	C	3599410	2	2	38	1	0	0	0	0	0	0	0	1	7843	1596	56	3		3	IRX1	5	3599410	Silent	SNP	T	TCGA-BR-6705-01A-12D-1882-08		3599410	177315850	35	35273											
FBXL7	23194	broad.mit.edu	37	chr5	15928114	15928114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcctcgtcctccatcacCggggagacggtggccatggt	12	15	1	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr5:15928114C>T	uc003jfn.1	+	3	724	c.243C>T	c.(241-243)ACC>ACT	p.T81T		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	81					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						CCTCCATCACCGGGGAGACGG	0.657													T	15928114	C	T	15928114	2	4	38	1	0	0	0	0	0	0	0	1	5724	639	23	1		1	FBXL7	5	15928114	Silent	SNP	C	TCGA-BR-6705-01A-12D-1882-08	12328704	15928114	164987146	36	35274											
SLC45A2	51151	broad.mit.edu	37	chr5	33951726	33951726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacctcgactcctctttcGtagatgagaaactctgtgga	8	12	2	2	rs148156477		TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr5:33951726G>A	uc003jid.2	-	5	1181	c.1089C>T	c.(1087-1089)TAC>TAT	p.Y363Y	SLC45A2_uc003jie.2_Silent_p.Y363Y|SLC45A2_uc003jif.3_3'UTR|SLC45A2_uc011coe.1_3'UTR	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	363	Extracellular (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						CTCCTCTTTCGTAGATGAGAA	0.453													A	33951726	G	A	33951726	2	1	38	1	0	0	0	0	0	0	0	1	14641	1140	40	1		1	SLC45A2	5	33951726	Silent	SNP	G	TCGA-BR-6705-01A-12D-1882-08	18023612	33951726	146963534	37	35275											
C5orf33	133686	broad.mit.edu	37	chr5	36226645	36226645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctctcctctttactagaCgaacctcaattccctcattc	2	15	4	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr5:36226645C>T	uc003jkf.3	-	3	410	c.410G>A	c.(409-411)CGT>CAT	p.R137H	C5orf33_uc010iux.2_5'Flank|C5orf33_uc003jkg.3_5'UTR|C5orf33_uc011cov.1_5'UTR	NM_001085411	NP_001078880	Q4G0N4	NAKD1_HUMAN	hypothetical protein LOC133686 isoform 1	137							NAD+ kinase activity				0	all_lung(31;5.63e-05)		Epithelial(62;0.0254)|all cancers(62;0.0805)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTTACTAGACGAACCTCAAT	0.378													T	36226645	C	T	36226645	3	4	38	1	0	0	0	0	1	0	0	0	2292	536	19	1	958	1	C5orf33	5	36226645	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	2274919	36226645	144688615	38	35276											
ELOVL7	79993	broad.mit.edu	37	chr5	60050537	60050537	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcacggtaccaaaaatggaGaaagagcagcagaaacatga	11	7	0	4			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr5:60050537G>T	uc003jsi.3	-	9	960	c.760C>A	c.(760-762)CTC>ATC	p.L254I	ELOVL7_uc011cqo.1_Missense_Mutation_p.L167I|ELOVL7_uc010iwk.2_Missense_Mutation_p.L254I|ELOVL7_uc003jsj.3_Missense_Mutation_p.L241I	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	elongation of very long chain fatty acids-like	254	Helical; (Potential).				fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				CAAAAATGGAGAAAGAGCAGC	0.398													T	60050537	G	T	60050537	3	4	38	1	0	0	0	0	1	0	0	0	5079	942	33	5	89	5	ELOVL7	5	60050537	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	23823892	60050537	120864723	39	35277											
MAST4	375449	broad.mit.edu	37	chr5	66459277	66459277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcactccccgcccaccatcGtcagacacatcgtgaggccc	8	19	1	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr5:66459277G>A	uc003jut.1	+	28	3771	c.3703G>A	c.(3703-3705)GTC>ATC	p.V1235I	MAST4_uc003juw.2_Missense_Mutation_p.V1163I|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1427						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCCCACCATCGTCAGACACAT	0.637													A	66459277	G	A	66459277	3	1	38	1	0	0	0	0	1	0	0	0	9327	1145	40	1	4514	1	MAST4	5	66459277	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	6408740	66459277	114455983	40	35278											
CMYA5	202333	broad.mit.edu	37	chr5	79034738	79034738	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttcccggaggaagaaTttgcatctggtgcaactcat	10	10	2	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr5:79034738T>A	uc003kgc.2	+	2	10222	c.10150T>A	c.(10150-10152)TTT>ATT	p.F3384I		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3384						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GGAGGAAGAATTTGCATCTGG	0.488													A	79034738	T	A	79034738	3	1	38	1	0	0	0	0	1	0	0	0	3590	1493	52	5	10156	5	CMYA5	5	79034738	Missense_Mutation	SNP	T	TCGA-BR-6705-01A-12D-1882-08	12575461	79034738	101880522	41	35279											
CEP120	153241	broad.mit.edu	37	chr5	122724246	122724246	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tctgtcctgaagctacttctGaagcattggatgtagtcact	9	9	3	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr5:122724246G>C	uc003ktk.2	-	10	1392	c.1310C>G	c.(1309-1311)TCA>TGA	p.S437*	CEP120_uc011cwq.1_Nonsense_Mutation_p.S246*|CEP120_uc010jcz.1_Nonsense_Mutation_p.S411*	NM_153223	NP_694955	Q8N960	CE120_HUMAN	coiled-coil domain containing 100	437						centrosome				ovary(1)	1						AGCTACTTCTGAAGCATTGGA	0.388													C	122724246	G	C	122724246	4	2	38	1	0	0	0	0	0	1	0	0	3246	1294	45	5	1698	5	CEP120	5	122724246	Nonsense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	43689508	122724246	58191014	42	35280											
SLC36A2	153201	broad.mit.edu	37	chr5	150723122	150723122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgtgcatacagtggcagGcaatgaagcccatcaccagc	12	11	1	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr5:150723122G>A	uc003lty.2	-	3	423	c.293C>T	c.(292-294)GCC>GTC	p.A98V	GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_5'UTR|SLC36A2_uc010jhv.2_Missense_Mutation_p.A98V|SLC36A2_uc011dct.1_Missense_Mutation_p.A98V	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	solute carrier family 36, member 2	98	Helical; (Potential).				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACAGTGGCAGGCAATGAAGCC	0.527													A	150723122	G	A	150723122	3	1	38	1	0	0	0	0	1	0	0	0	14594	1203	42	2	1190	2	SLC36A2	5	150723122	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	27998876	150723122	30192138	43	35281											
CYFIP2	26999	broad.mit.edu	37	chr5	156810315	156810315	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaacgtctggaagccaAgtatgccccgctccacctgg	11	13	1	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr5:156810315A>C	uc003lwq.2	+	30	3293	c.3155A>C	c.(3154-3156)AAG>ACG	p.K1052T	CYFIP2_uc011ddn.1_Missense_Mutation_p.K1026T|CYFIP2_uc011ddo.1_Missense_Mutation_p.K856T|CYFIP2_uc003lwr.2_Missense_Mutation_p.K1052T|CYFIP2_uc003lws.2_Missense_Mutation_p.K1052T|CYFIP2_uc003lwt.2_Missense_Mutation_p.K955T|CYFIP2_uc011ddp.1_Missense_Mutation_p.K786T|CYFIP2_uc003lwv.2_Missense_Mutation_p.K7T	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1077					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGGAAGCCAAGTATGCCCCG	0.522													C	156810315	A	C	156810315	3	2	38	1	0	0	0	0	1	0	0	0	4138	72	3	5	3261	5	CYFIP2	5	156810315	Missense_Mutation	SNP	A	TCGA-BR-6705-01A-12D-1882-08	6087193	156810315	24104945	44	35282											
HIST1H2AE	3012	broad.mit.edu	37	chr6	26217233	26217233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaaagcaaggcggcaaaGctcgggcaaaagctaaaacg	14	8	0	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr6:26217233G>A	uc003nha.1	+	1	86	c.31G>A	c.(31-33)GCT>ACT	p.A11T	HIST1H2BG_uc003ngz.2_5'Flank	NM_021052	NP_066390	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	11					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2		all_hematologic(11;0.196)				AGGCGGCAAAGCTCGGGCAAA	0.517													A	26217233	G	A	26217233	3	1	38	1	0	0	0	0	1	0	0	0	7132	971	34	2	33	2	HIST1H2AE	6	26217233	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08		26217233	144897834	45	35283											
GPR110	266977	broad.mit.edu	37	chr6	46979887	46979887	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagattttgcacgaaggaTgacacagctgcctcagtggc	12	9	1	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr6:46979887T>C	uc003oyt.2	-	10	1171	c.972A>G	c.(970-972)TCA>TCG	p.S324S	GPR110_uc011dwl.1_Silent_p.S12S	NM_153840	NP_722582	Q5T601	GP110_HUMAN	G-protein coupled receptor 110 isoform 1	324	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|pancreas(1)	3						GCACGAAGGATGACACAGCTG	0.423													C	46979887	T	C	46979887	2	2	38	1	0	0	0	0	0	0	0	1	6627	1451	51	3		3	GPR110	6	46979887	Silent	SNP	T	TCGA-BR-6705-01A-12D-1882-08	20762654	46979887	124135180	46	35284											
GFRAL	389400	broad.mit.edu	37	chr6	55223692	55223692	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cactctttctctaggaggcaCtatagaacatttcagtcaaa	6	10	4	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr6:55223692C>G	uc003pcm.1	+	6	794	c.708C>G	c.(706-708)CAC>CAG	p.H236Q		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like precursor	236	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)	2	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTAGGAGGCACTATAGAACAT	0.383													G	55223692	C	G	55223692	3	3	38	1	0	0	0	0	1	0	0	0	6351	564	20	5	730	5	GFRAL	6	55223692	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	8243805	55223692	115891375	47	35285											
ROS1	6098	broad.mit.edu	37	chr6	117642553	117642553	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattctttaatcttctatgCcagactataaaggaaaaaat	5	6	3	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr6:117642553C>T	uc003pxp.1	-	35	5845	c.5646G>A	c.(5644-5646)TGG>TGA	p.W1882*	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Nonsense_Mutation_p.W194*	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1882	Helical; (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATCTTCTATGCCAGACTATAA	0.363			T	GOPC|ROS1	glioblastoma|NSCLC								T	117642553	C	T	117642553	4	4	38	1	0	0	0	0	0	1	0	0	13531	740	26	2	1433	2	ROS1	6	117642553	Nonsense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	62418861	117642553	53472514	48	35286											
DNAH11	8701	broad.mit.edu	37	chr7	21847621	21847621	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccttcacaaggcagtatcGccaggagctggtgcactgca	11	13	1	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr7:21847621G>T	uc003svc.2	+	64	10338	c.10307G>T	c.(10306-10308)CGC>CTC	p.R3436L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3436					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AGGCAGTATCGCCAGGAGCTG	0.468									Kartagener_syndrome				T	21847621	G	T	21847621	3	4	38	1	0	0	0	0	1	0	0	0	4599	1087	38	5	10558	5	DNAH11	7	21847621	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08		21847621	137291042	49	35287											
GTF2IRD1	9569	broad.mit.edu	37	chr7	74005258	74005258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgatgacatccccttcCggaaccccaacacgtacgac	7	17	0	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr7:74005258C>T	uc003uaq.2	+	24	2941	c.2548C>T	c.(2548-2550)CGG>TGG	p.R850W	GTF2IRD1_uc010lbq.2_Missense_Mutation_p.R867W|GTF2IRD1_uc003uap.2_Missense_Mutation_p.R835W|GTF2IRD1_uc003uar.1_Missense_Mutation_p.R835W	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	850	GTF2I-like 5.					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						CATCCCCTTCCGGAACCCCAA	0.617													T	74005258	C	T	74005258	3	4	38	1	0	0	0	0	1	0	0	0	6868	643	23	1	2638	1	GTF2IRD1	7	74005258	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	52157637	74005258	85133405	50	35288											
CLDN12	9069	broad.mit.edu	37	chr7	90042682	90042682	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcagcacgctctcgcctctCtgccattgaaattgacattc	6	14	3	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr7:90042682C>T	uc003ukp.2	+	5	1328	c.692C>T	c.(691-693)TCT>TTT	p.S231F	CLDN12_uc003ukq.2_Missense_Mutation_p.S231F|CLDN12_uc010leq.2_Missense_Mutation_p.S231F|CLDN12_uc003ukr.2_Missense_Mutation_p.S231F|CLDN12_uc003uks.2_Missense_Mutation_p.S231F	NM_012129	NP_036261	P56749	CLD12_HUMAN	claudin 12	231	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						TCTCGCCTCTCTGCCATTGAA	0.438													T	90042682	C	T	90042682	3	4	38	1	0	0	0	0	1	0	0	0	3474	913	32	4	694	4	CLDN12	7	90042682	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	16037424	90042682	69095981	51	35289											
TAS2R16	50833	broad.mit.edu	37	chr7	122634836	122634836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactttccctttagaatccTtttcaacgtagggctgctca	7	12	2	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr7:122634836T>C	uc003vkl.1	-	1	919	c.853A>G	c.(853-855)AGG>GGG	p.R285G		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	285	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2						TTTAGAATCCTTTTCAACGTA	0.418													C	122634836	T	C	122634836	3	2	38	1	0	0	0	0	1	0	0	0	15566	1608	56	3	26	3	TAS2R16	7	122634836	Missense_Mutation	SNP	T	TCGA-BR-6705-01A-12D-1882-08	32592154	122634836	36503827	52	35290											
POT1	25913	broad.mit.edu	37	chr7	124532403	124532403	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccacccttaagttgattcAggggtgtatatatataattt	7	6	1	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr7:124532403A>G	uc003vlm.2	-	6	642	c.41T>C	c.(40-42)CTG>CCG	p.L14P	POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_5'UTR|POT1_uc003vln.2_RNA	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN	protection of telomeres 1 isoform 1	14					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			central_nervous_system(1)	1						AAGTTGATTCAGGGGTGTATA	0.333													G	124532403	A	G	124532403	3	3	38	1	0	0	0	0	1	0	0	0	12260	188	7	3	1919	3	POT1	7	124532403	Missense_Mutation	SNP	A	TCGA-BR-6705-01A-12D-1882-08	1897567	124532403	34606260	53	35291											
GRM8	2918	broad.mit.edu	37	chr7	126173574	126173574	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgttaggagcacgtaactaAgttcgcgtcctgaagccctc	10	13	0	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr7:126173574A>G	uc003vlr.2	-	8	2173	c.1862T>C	c.(1861-1863)CTT>CCT	p.L621P	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.L621P|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	621	Helical; Name=2; (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CACGTAACTAAGTTCGCGTCC	0.453										HNSCC(24;0.065)			G	126173574	A	G	126173574	3	3	38	1	0	0	0	0	1	0	0	0	6803	72	3	3	926	3	GRM8	7	126173574	Missense_Mutation	SNP	A	TCGA-BR-6705-01A-12D-1882-08	1641171	126173574	32965089	54	35292											
CNTNAP2	26047	broad.mit.edu	37	chr7	146997238	146997238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgtacttaccaggttctGggttgaatgatggacagtgg	13	6	2	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr7:146997238G>A	uc003weu.1	+	9	1870	c.1354G>A	c.(1354-1356)GGG>AGG	p.G452R		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	452	Extracellular (Potential).|Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACCAGGTTCTGGGTTGAATGA	0.373										HNSCC(39;0.1)			A	146997238	G	A	146997238	3	1	38	1	0	0	0	0	1	0	0	0	3647	1348	47	4	1388	4	CNTNAP2	7	146997238	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	20823664	146997238	12141425	55	35293											
UBE3C	9690	broad.mit.edu	37	chr7	157046671	157046671	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttgaactaaaattcggtggGaaagacatccctgtcaccag	10	9	1	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr7:157046671G>A	uc010lqs.2	+	20	3030	c.2718G>A	c.(2716-2718)GGG>GGA	p.G906G	UBE3C_uc003wni.3_Silent_p.G269G	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	906	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(2)|large_intestine(1)	5		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		AATTCGGTGGGAAAGACATCC	0.453													A	157046671	G	A	157046671	2	1	38	1	0	0	0	0	0	0	0	1	16878	1161	41	4		4	UBE3C	7	157046671	Silent	SNP	G	TCGA-BR-6705-01A-12D-1882-08	10049433	157046671	2091992	56	35294											
ADCY8	114	broad.mit.edu	37	chr8	131916210	131916210	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgcttcctcaggaattcattCctctctttaccatggccctc	5	15	3	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr8:131916210C>A	uc003ytd.3	-	7	1975	c.1719G>T	c.(1717-1719)AGG>AGT	p.R573S	ADCY8_uc010mds.2_Missense_Mutation_p.R573S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	573	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGAATTCATTCCTCTCTTTAC	0.463										HNSCC(32;0.087)			A	131916210	C	A	131916210	3	1	38	1	0	0	0	0	1	0	0	0	300	854	30	5	2084	5	ADCY8	8	131916210	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08		131916210	14447812	57	35295											
PSIP1	11168	broad.mit.edu	37	chr9	15468792	15468792	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttaaacttgttatacAacattgtagacttttccatg	5	7	1	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr9:15468792A>C	uc003zlv.3	-	14	1586	c.1256T>G	c.(1255-1257)TTG>TGG	p.L419W	PSIP1_uc003zlw.3_Missense_Mutation_p.L419W	NM_033222	NP_150091	O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1 isoform 2	419					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(1)	1				GBM - Glioblastoma multiforme(50;2.38e-06)		CTTGTTATACAACATTGTAGA	0.343													C	15468792	A	C	15468792	3	2	38	1	0	0	0	0	1	0	0	0	12663	131	5	5	348	5	PSIP1	9	15468792	Missense_Mutation	SNP	A	TCGA-BR-6705-01A-12D-1882-08		15468792	125744639	58	35296											
TAF1L	138474	broad.mit.edu	37	chr9	32632187	32632187	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacagctgagagctggtttTcttgttctgcaacatgttct	10	8	3	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr9:32632187T>C	uc003zrg.1	-	1	3481	c.3391A>G	c.(3391-3393)AAA>GAA	p.K1131E	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1131					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAGCTGGTTTTCTTGTTCTGC	0.468													C	32632187	T	C	32632187	3	2	38	1	0	0	0	0	1	0	0	0	15520	1792	62	3	2093	3	TAF1L	9	32632187	Missense_Mutation	SNP	T	TCGA-BR-6705-01A-12D-1882-08	17163395	32632187	108581244	59	35297											
FLJ46321	389763	broad.mit.edu	37	chr9	84603746	84603746	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcagaccatggagaatatcCtctgttttctgaacagctat	7	9	3	3			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr9:84603746C>G	uc004amn.2	+	1	60	c.13C>G	c.(13-15)CTC>GTC	p.L5V		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	5						integral to membrane					0						GGAGAATATCCTCTGTTTTCT	0.507													G	84603746	C	G	84603746	3	3	38	1	0	0	0	0	1	0	0	0	5932	681	24	5	15	5	FLJ46321	9	84603746	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	51971559	84603746	56609685	60	35298											
PAPPA	5069	broad.mit.edu	37	chr9	119114988	119114988	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctatgtcttccaggcaAcaacagcctcctgacctgca	7	15	1	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr9:119114988A>G	uc004bjn.2	+	16	4349	c.3968A>G	c.(3967-3969)AAC>AGC	p.N1323S	PAPPA_uc011lxq.1_Missense_Mutation_p.N698S	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1323	Sushi 2.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						CTTCCAGGCAACAACAGCCTC	0.547													G	119114988	A	G	119114988	3	3	38	1	0	0	0	0	1	0	0	0	11432	43	2	3	4030	3	PAPPA	9	119114988	Missense_Mutation	SNP	A	TCGA-BR-6705-01A-12D-1882-08	34511242	119114988	22098443	61	35299											
PAPPA	5069	broad.mit.edu	37	chr9	119115107	119115107	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctccagaccgcccggtgcCgagagaataagcacaaggtg	12	13	0	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr9:119115107C>T	uc004bjn.2	+	16	4468	c.4087C>T	c.(4087-4089)CGA>TGA	p.R1363*	PAPPA_uc011lxq.1_Nonsense_Mutation_p.R738*	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1363	Sushi 3.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						CGCCCGGTGCCGAGAGAATAA	0.572													T	119115107	C	T	119115107	4	4	38	1	0	0	0	0	0	1	0	0	11432	644	23	1	4149	1	PAPPA	9	119115107	Nonsense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	119	119115107	22098324	62	35300											
GAPVD1	26130	broad.mit.edu	37	chr9	128074745	128074745	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tattagcaactcggagcagaAgccgcaccaatatgctaatg	9	10	0	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr9:128074745A>C	uc010mwx.2	+	9	1782	c.1456A>C	c.(1456-1458)AGC>CGC	p.S486R	GAPVD1_uc011lzs.1_Missense_Mutation_p.S486R|GAPVD1_uc004bpp.2_Missense_Mutation_p.S486R|GAPVD1_uc004bpq.2_Missense_Mutation_p.S486R|GAPVD1_uc004bpr.2_Missense_Mutation_p.S486R|GAPVD1_uc004bps.2_Missense_Mutation_p.S486R|GAPVD1_uc010mwy.1_Missense_Mutation_p.S345R	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	486					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						TCGGAGCAGAAGCCGCACCAA	0.338													C	128074745	A	C	128074745	3	2	38	1	0	0	0	0	1	0	0	0	6239	72	3	5	1478	5	GAPVD1	9	128074745	Missense_Mutation	SNP	A	TCGA-BR-6705-01A-12D-1882-08	8959638	128074745	13138686	63	35301											
SPTAN1	6709	broad.mit.edu	37	chr9	131353798	131353798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgatcgtcagggttttgtgCcggctgcgtacgtgaagaaa	14	8	1	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr9:131353798C>T	uc004bvl.3	+	22	3162	c.3049C>T	c.(3049-3051)CCG>TCG	p.P1017S	SPTAN1_uc011mbg.1_Missense_Mutation_p.P1017S|SPTAN1_uc011mbh.1_Missense_Mutation_p.P1029S|SPTAN1_uc004bvm.3_Missense_Mutation_p.P1017S|SPTAN1_uc004bvn.3_Missense_Mutation_p.P1017S	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1017	SH3.		P -> S (in a breast cancer sample; somatic mutation).		actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	p.P1017S(1)		breast(5)|ovary(4)|pancreas(1)	10						GGGTTTTGTGCCGGCTGCGTA	0.522													T	131353798	C	T	131353798	3	4	38	1	0	0	0	0	1	0	0	0	15116	739	26	2	3131	2	SPTAN1	9	131353798	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	3279053	131353798	9859633	64	35302											
VAV2	7410	broad.mit.edu	37	chr9	136648670	136648670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcactccttgtgtgcccCgacgccacacttggtacaca	9	16	0	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr9:136648670C>T	uc004ces.2	-	19	1724	c.1678G>A	c.(1678-1680)GGG>AGG	p.G560R	VAV2_uc004cer.2_Missense_Mutation_p.G550R|VAV2_uc004cet.1_Missense_Mutation_p.G99R	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	560	Phorbol-ester/DAG-type.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TTGTGTGCCCCGACGCCACAC	0.632													T	136648670	C	T	136648670	3	4	38	1	0	0	0	0	1	0	0	0	17129	652	23	1	1006	1	VAV2	9	136648670	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	5294872	136648670	4564761	65	35303											
CDH23	64072	broad.mit.edu	37	chr10	73544820	73544820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaccttcaacatcactgCgggcaaccgcgagcgggcct	10	17	3	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr10:73544820C>T	uc001jrx.3	+	41	6052	c.5675C>T	c.(5674-5676)GCG>GTG	p.A1892V		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1892	Cadherin 18.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						AACATCACTGCGGGCAACCGC	0.602													T	73544820	C	T	73544820	3	4	38	1	0	0	0	0	1	0	0	0	3108	768	27	1	6186	1	CDH23	10	73544820	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08		73544820	61989927	66	35304											
FBXW4	6468	broad.mit.edu	37	chr10	103371080	103371080	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaatccaggacgtggaggtTgtaagacagggcagcataga	14	6	0	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr10:103371080T>A	uc001kto.2	-	9	1553	c.1207A>T	c.(1207-1209)AAC>TAC	p.N403Y		NM_022039	NP_071322	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	403					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				skin(1)	1		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		ACGTGGAGGTTGTAAGACAGG	0.607													A	103371080	T	A	103371080	3	1	38	1	0	0	0	0	1	0	0	0	5767	1812	63	5	35	5	FBXW4	10	103371080	Missense_Mutation	SNP	T	TCGA-BR-6705-01A-12D-1882-08	29826260	103371080	32163667	67	35305											
SORCS1	114815	broad.mit.edu	37	chr10	108389026	108389026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccacctgcacggtcacacGgaaaatgcccacgttctgat	9	14	2	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr10:108389026G>A	uc001kym.2	-	19	2604	c.2596C>T	c.(2596-2598)CGT>TGT	p.R866C	SORCS1_uc001kyl.2_Missense_Mutation_p.R866C|SORCS1_uc009xxs.2_Missense_Mutation_p.R866C|SORCS1_uc001kyn.1_Missense_Mutation_p.R866C|SORCS1_uc001kyo.2_Missense_Mutation_p.R866C	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	866	Lumenal (Potential).|PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACGGTCACACGGAAAATGCCC	0.478													A	108389026	G	A	108389026	3	1	38	1	0	0	0	0	1	0	0	0	14930	1116	39	1	1176	1	SORCS1	10	108389026	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	5017946	108389026	27145721	68	35306											
MRVI1	10335	broad.mit.edu	37	chr11	10622545	10622545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcatggtccttctcatacGtcctctttagattctccaca	5	15	3	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr11:10622545G>A	uc010rcc.1	-	15	2323	c.1937C>T	c.(1936-1938)ACG>ATG	p.T646M	MRVI1_uc001miw.2_Missense_Mutation_p.T637M|MRVI1_uc010rcb.1_Missense_Mutation_p.T638M|MRVI1_uc009ygb.1_Missense_Mutation_p.T331M|MRVI1_uc001mix.2_Missense_Mutation_p.T331M|MRVI1_uc001miz.2_Missense_Mutation_p.T555M|MRVI1_uc009ygc.1_Missense_Mutation_p.T555M|MRVI1_uc010rcd.1_Missense_Mutation_p.T440M|MRVI1_uc009ygd.1_Missense_Mutation_p.T331M|MRVI1_uc010rce.1_RNA	NM_001100167	NP_001093637	Q9Y6F6	MRVI1_HUMAN	JAW1-related protein isoform c	619	Potential.				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				ovary(2)|central_nervous_system(1)	3				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTTCTCATACGTCCTCTTTAG	0.517													A	10622545	G	A	10622545	3	1	38	1	0	0	0	0	1	0	0	0	9853	1145	40	1	829	1	MRVI1	11	10622545	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08		10622545	124383971	69	35307											
OR5T3	390154	broad.mit.edu	37	chr11	56020552	56020552	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcagttatatgagaccaAgttccagctatgcttcagac	8	10	2	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr11:56020552A>T	uc010rjd.1	+	1	877	c.877A>T	c.(877-879)AGT>TGT	p.S293C		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	293	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					TATGAGACCAAGTTCCAGCTA	0.398													T	56020552	A	T	56020552	3	4	38	1	0	0	0	0	1	0	0	0	11183	72	3	5	879	5	OR5T3	11	56020552	Missense_Mutation	SNP	A	TCGA-BR-6705-01A-12D-1882-08	45398007	56020552	78985964	70	35308											
MTL5	9633	broad.mit.edu	37	chr11	68475799	68475799	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccattttcaatcccttagAtttaaactcagtgtggagaa	6	9	2	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr11:68475799A>G	uc001ooc.2	-	10	1644	c.1504T>C	c.(1504-1506)TCT>CCT	p.S502P		NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific isoform	502					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			ovary(2)|breast(1)	3	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			AATCCCTTAGATTTAAACTCA	0.408													G	68475799	A	G	68475799	3	3	38	1	0	0	0	0	1	0	0	0	9936	333	12	3	26	3	MTL5	11	68475799	Missense_Mutation	SNP	A	TCGA-BR-6705-01A-12D-1882-08	12455247	68475799	66530717	71	35309											
IGHMBP2	3508	broad.mit.edu	37	chr11	68673617	68673617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaggtatccagccagcGcactgggctgtacggacggc	15	13	0	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr11:68673617G>A	uc001ook.1	+	2	269	c.167G>A	c.(166-168)CGC>CAC	p.R56H	IGHMBP2_uc001ooj.1_RNA|MRPL21_uc001ooh.2_5'Flank|MRPL21_uc001ooi.2_5'Flank|MRPL21_uc010rqe.1_5'Flank	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	56					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCCAGCCAGCGCACTGGGCTG	0.587													A	68673617	G	A	68673617	3	1	38	1	0	0	0	0	1	0	0	0	7591	1087	38	1	173	1	IGHMBP2	11	68673617	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	197818	68673617	66332899	72	35310											
DLG2	1740	broad.mit.edu	37	chr11	84996402	84996402	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcacctcataaaattcTtggatatctgtaaagaaaat	5	6	4	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr11:84996402T>G	uc001pak.2	-	4	360	c.48A>C	c.(46-48)CAA>CAC	p.Q16H		NM_001142699	NP_001136171	Q15700	DLG2_HUMAN	chapsyn-110 isoform 1	Error:Variant_position_missing_in_Q15700_after_alignment						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CATAAAATTCTTGGATATCTG	0.323													G	84996402	T	G	84996402	3	3	38	1	0	0	0	0	1	0	0	0	4555	1606	56	5	3184	5	DLG2	11	84996402	Missense_Mutation	SNP	T	TCGA-BR-6705-01A-12D-1882-08	16322785	84996402	50010114	73	35311											
TRPC6	7225	broad.mit.edu	37	chr11	101347160	101347160	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaatctcgcaatgaatgatGctgcgaaaattgctaacata	8	7	1	3			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr11:101347160G>T	uc001pgk.3	-	6	2041	c.1616C>A	c.(1615-1617)GCA>GAA	p.A539E	TRPC6_uc009ywy.2_Missense_Mutation_p.A423E|TRPC6_uc009ywz.1_Missense_Mutation_p.A484E	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	539	Helical; (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AATGAATGATGCTGCGAAAAT	0.408													T	101347160	G	T	101347160	3	4	38	1	0	0	0	0	1	0	0	0	16580	1319	46	5	1211	5	TRPC6	11	101347160	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	16350758	101347160	33659356	74	35312											
HINFP	25988	broad.mit.edu	37	chr11	119004822	119004822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatgaagatggctatatgCggctgcagctggttcgctac	12	9	0	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr11:119004822C>T	uc001pvp.2	+	11	1357	c.1168C>T	c.(1168-1170)CGG>TGG	p.R390W	HINFP_uc001pvq.2_Missense_Mutation_p.R390W|HINFP_uc001pvr.2_Missense_Mutation_p.R143W	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN	MBD2 (methyl-CpG-binding protein)-interacting	390	Interaction with NPAT.|Required for activation of histone H4 transcription and contributes to DNA- binding.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						TGGCTATATGCGGCTGCAGCT	0.567											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	119004822	C	T	119004822	3	4	38	1	0	0	0	0	1	0	0	0	7110	759	27	1	1202	1	HINFP	11	119004822	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	17657662	119004822	16001694	75	35313											
NLRX1	79671	broad.mit.edu	37	chr11	119052840	119052840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacggcggcaggtgttgccGtgctaatggaggggctggca	19	8	0	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr11:119052840G>A	uc001pvu.2	+	9	2607	c.2392G>A	c.(2392-2394)GTG>ATG	p.V798M	NLRX1_uc001pvv.2_Missense_Mutation_p.V798M|NLRX1_uc001pvw.2_Missense_Mutation_p.V798M|NLRX1_uc001pvx.2_Missense_Mutation_p.V798M	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	798	Required for the repression of MAVS- induced interferon signaling.|LRR 4.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AGGTGTTGCCGTGCTAATGGA	0.637													A	119052840	G	A	119052840	3	1	38	1	0	0	0	0	1	0	0	0	10485	1145	40	1	2422	1	NLRX1	11	119052840	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	48018	119052840	15953676	76	35314											
FKBP4	2288	broad.mit.edu	37	chr12	2910480	2910480	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttgcccgggagaagaagctCtatgccaatatgtttgagag	12	8	1	3			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr12:2910480C>T	uc001qkz.2	+	9	1428	c.1230C>T	c.(1228-1230)CTC>CTT	p.L410L		NM_002014	NP_002005	Q02790	FKBP4_HUMAN	FK506 binding protein 52	410					negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging				0			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	AGAAGAAGCTCTATGCCAATA	0.562													T	2910480	C	T	2910480	2	4	38	1	0	0	0	0	0	0	0	1	5910	900	32	4		4	FKBP4	12	2910480	Silent	SNP	C	TCGA-BR-6705-01A-12D-1882-08		2910480	130941415	77	35315											
KRAS	3845	broad.mit.edu	37	chr12	25378594	25378594	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	taaaaggaattccataacttCttgctaagtcctgagcctgt	7	9	1	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr12:25378594C>G	uc001rgp.1	-	4	585	c.404G>C	c.(403-405)AGA>ACA	p.R135T	KRAS_uc001rgq.1_Missense_Mutation_p.R135T	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	135					activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TCCATAACTTCTTGCTAAGTC	0.353		119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			G	25378594	C	G	25378594	3	3	38	1	0	0	0	0	1	0	0	0	8438	913	32	5	294	5	KRAS	12	25378594	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	22468114	25378594	108473301	78	35316											
ANO4	121601	broad.mit.edu	37	chr12	101333096	101333096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttactttggttctagtggCcaaggatgtcaatattcttt	8	6	3	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr12:101333096C>T	uc010svm.1	+	4	736	c.164C>T	c.(163-165)GCC>GTC	p.A55V	ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.A20V|ANO4_uc001thx.2_Missense_Mutation_p.A55V	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	55	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						GTTCTAGTGGCCAAGGATGTC	0.378										HNSCC(74;0.22)			T	101333096	C	T	101333096	3	4	38	1	0	0	0	0	1	0	0	0	699	739	26	2	65	2	ANO4	12	101333096	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	75954502	101333096	32518799	79	35317											
MYO1H	283446	broad.mit.edu	37	chr12	109845697	109845697	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acttggctggtcaacaaaatCaattcctccttagttaacaa	5	10	2	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr12:109845697C>T	uc010sxn.1	+	9	1086	c.1086C>T	c.(1084-1086)ATC>ATT	p.I362I		NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0						TCAACAAAATCAATTCCTCCT	0.423													T	109845697	C	T	109845697	2	4	38	1	0	0	0	0	0	0	0	1	10075	816	29	4		4	MYO1H	12	109845697	Silent	SNP	C	TCGA-BR-6705-01A-12D-1882-08	8512601	109845697	24006198	80	35318											
DGKH	160851	broad.mit.edu	37	chr13	42748255	42748255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttccctacttccaggacCtccagaagcatctgaagaat	7	13	1	3			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr13:42748255C>T	uc001uyl.1	+	12	1448	c.1427C>T	c.(1426-1428)CCT>CTT	p.P476L	DGKH_uc010tfh.1_Missense_Mutation_p.P476L|DGKH_uc001uym.1_Missense_Mutation_p.P476L|DGKH_uc010tfi.1_Missense_Mutation_p.P231L|DGKH_uc010tfj.1_Missense_Mutation_p.P331L|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.P331L|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	476					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CTTCCAGGACCTCCAGAAGCA	0.363													T	42748255	C	T	42748255	3	4	38	1	0	0	0	0	1	0	0	0	4470	681	24	4	1473	4	DGKH	13	42748255	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08		42748255	72421623	81	35319											
STK24	8428	broad.mit.edu	37	chr13	99116043	99116043	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtaggaagttttctttgcAttgcgtagtataaacttgtg	10	4	1	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr13:99116043A>G	uc001vnm.1	-	7	1102	c.867T>C	c.(865-867)AAT>AAC	p.N289N	STK24_uc001vnn.1_Silent_p.N277N|STK24_uc010tim.1_Silent_p.N258N	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24 isoform a	289					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTTTCTTTGCATTGCGTAGTA	0.473													G	99116043	A	G	99116043	2	3	38	1	0	0	0	0	0	0	0	1	15292	214	8	3		3	STK24	13	99116043	Silent	SNP	A	TCGA-BR-6705-01A-12D-1882-08	56367788	99116043	16053835	82	35320											
AKAP6	9472	broad.mit.edu	37	chr14	33293356	33293356	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggggacttttattcgtacTtatctctctcatctcatgac	6	10	3	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr14:33293356T>G	uc001wrq.2	+	13	6507	c.6337T>G	c.(6337-6339)TTA>GTA	p.L2113V		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	2113					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TTATTCGTACTTATCTCTCTC	0.473													G	33293356	T	G	33293356	3	3	38	1	0	0	0	0	1	0	0	0	455	1606	56	5	6383	5	AKAP6	14	33293356	Missense_Mutation	SNP	T	TCGA-BR-6705-01A-12D-1882-08		33293356	74056184	83	35321											
GALNTL1	57452	broad.mit.edu	37	chr14	69787487	69787487	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacctgtcggccaagcagctGaaggctggagaggaccccta	13	12	0	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr14:69787487G>A	uc010aqu.1	+	2	330	c.237G>A	c.(235-237)CTG>CTA	p.L79L	GALNTL1_uc001xla.1_Silent_p.L79L|GALNTL1_uc001xlb.1_Silent_p.L79L	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	79	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)	2				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		CCAAGCAGCTGAAGGCTGGAG	0.592													A	69787487	G	A	69787487	2	1	38	1	0	0	0	0	0	0	0	1	6221	1277	45	4		4	GALNTL1	14	69787487	Silent	SNP	G	TCGA-BR-6705-01A-12D-1882-08	36494131	69787487	37562053	84	35322											
VASH1	22846	broad.mit.edu	37	chr14	77242566	77242566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgtggagcgcctgggccgcGatgacttccgcaaggagctg	16	12	0	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr14:77242566G>A	uc001xst.2	+	5	1792	c.862G>A	c.(862-864)GAT>AAT	p.D288N		NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	vasohibin 1	288					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		CCTGGGCCGCGATGACTTCCG	0.552													A	77242566	G	A	77242566	3	1	38	1	0	0	0	0	1	0	0	0	17122	1058	37	1	880	1	VASH1	14	77242566	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	7455079	77242566	30106974	85	35323											
AXIN1	8312	broad.mit.edu	37	chr16	354351	354351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttctcctcggcctcccGcgtgcgctgcacagcctcca	9	20	1	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr16:354351G>A	uc002cgp.1	-	5	1384	c.1207C>T	c.(1207-1209)CGG>TGG	p.R403W	AXIN1_uc002cgq.1_Missense_Mutation_p.R403W	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	403	Interaction with GSK3B (By similarity).				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TCGGCCTCCCGCGTGCGCTGC	0.687													A	354351	G	A	354351	3	1	38	1	0	0	0	0	1	0	0	0	1236	1086	38	1	1409	1	AXIN1	16	354351	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08		354351	90000402	86	35324											
MMP25	64386	broad.mit.edu	37	chr16	3100096	3100096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggtcaggcggcgtcgcCggtacgctctgagcggcagc	18	13	2	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr16:3100096C>T	uc002cth.2	+	3	556	c.319C>T	c.(319-321)CGG>TGG	p.R107W	MMP25_uc002cti.1_Missense_Mutation_p.R43W	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	matrix metalloproteinase 25 preproprotein	107	Poly-Arg.				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0						GCGGCGTCGCCGGTACGCTCT	0.701													T	3100096	C	T	3100096	3	4	38	1	0	0	0	0	1	0	0	0	9662	643	23	1	329	1	MMP25	16	3100096	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	2745745	3100096	87254657	87	35325											
ZNF200	7752	broad.mit.edu	37	chr16	3274181	3274181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttctctcctgtatgaattCgctcatgtttattgaggttt	8	7	2	2	rs148762905		TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr16:3274181C>T	uc002cuj.2	-	5	1531	c.899G>A	c.(898-900)CGA>CAA	p.R300Q	ZNF200_uc002cum.3_Missense_Mutation_p.R299Q|ZNF200_uc010bti.2_Missense_Mutation_p.R299Q|ZNF200_uc002cuk.2_Missense_Mutation_p.R300Q|ZNF200_uc002cui.2_Missense_Mutation_p.R299Q|ZNF200_uc002cul.3_Missense_Mutation_p.R299Q	NM_003454	NP_003445	P98182	ZN200_HUMAN	zinc finger protein 200 isoform 1	300	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						TGTATGAATTCGCTCATGTTT	0.418													T	3274181	C	T	3274181	3	4	38	1	0	0	0	0	1	0	0	0	17759	884	31	1	292	1	ZNF200	16	3274181	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	174085	3274181	87080572	88	35326											
TAOK2	9344	broad.mit.edu	37	chr16	29989217	29989217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatggcagctttggagccGtatactttgtgagttgggtc	14	8	0	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr16:29989217G>A	uc002dva.1	+	2	907	c.124G>A	c.(124-126)GTA>ATA	p.V42I	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.V42I|TAOK2_uc002dvc.1_Missense_Mutation_p.V42I|TAOK2_uc010bzm.1_Missense_Mutation_p.V42I|TAOK2_uc002dvd.1_5'Flank	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	42	ATP (By similarity).|Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						CTTTGGAGCCGTATACTTTGT	0.532													A	29989217	G	A	29989217	3	1	38	1	0	0	0	0	1	0	0	0	15545	1145	40	1	126	1	TAOK2	16	29989217	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	26715036	29989217	60365536	89	35327											
ITGAX	3687	broad.mit.edu	37	chr16	31371109	31371109	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgccacgatgatgaacttCgtgagagctgtgataagcca	11	8	0	4			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr16:31371109C>T	uc002ebu.1	+	6	586	c.519C>T	c.(517-519)TTC>TTT	p.F173F	ITGAX_uc002ebt.2_Silent_p.F173F|ITGAX_uc010vfk.1_5'Flank	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	173	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGATGAACTTCGTGAGAGCTG	0.582													T	31371109	C	T	31371109	2	4	38	1	0	0	0	0	0	0	0	1	7889	883	31	1		1	ITGAX	16	31371109	Silent	SNP	C	TCGA-BR-6705-01A-12D-1882-08	1381892	31371109	58983644	90	35328											
MYH2	4620	broad.mit.edu	37	chr17	10428212	10428212	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atggcatcattcctactcctGatctcagcatccagcgtgct	7	14	2	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr17:10428212G>T	uc010coi.2	-	34	4961	c.4833C>A	c.(4831-4833)ATC>ATA	p.I1611I	uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.I1611I|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1611	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						TCCTACTCCTGATCTCAGCAT	0.468													T	10428212	G	T	10428212	2	4	38	1	0	0	0	0	0	0	0	1	10035	1280	45	5		5	MYH2	17	10428212	Silent	SNP	G	TCGA-BR-6705-01A-12D-1882-08		10428212	70766998	91	35329											
ITGA2B	3674	broad.mit.edu	37	chr17	42455111	42455111	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagctcacacagcaccacCctggtctcattctccttctt	4	19	4	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr17:42455111C>T	uc002igt.1	-	21	2174	c.2142G>A	c.(2140-2142)AGG>AGA	p.R714R	ITGA2B_uc002igu.1_Silent_p.R195R	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	714	Extracellular (Potential).				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	ACAGCACCACCCTGGTCTCAT	0.498													T	42455111	C	T	42455111	2	4	38	1	0	0	0	0	0	0	0	1	7876	622	22	4		4	ITGA2B	17	42455111	Silent	SNP	C	TCGA-BR-6705-01A-12D-1882-08	32026899	42455111	38740099	92	35330											
B4GALNT2	124872	broad.mit.edu	37	chr17	47241497	47241497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctaccaagactttcctcCgcccccacaagctcatgatc	5	17	1	2	rs145043273		TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr17:47241497C>T	uc002ion.2	+	8	1053	c.994C>T	c.(994-996)CGC>TGC	p.R332C	B4GALNT2_uc010wlt.1_Missense_Mutation_p.R246C|B4GALNT2_uc010wlu.1_Missense_Mutation_p.R272C	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	332	Lumenal (Potential).				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2			all cancers(6;0.000316)			GACTTTCCTCCGCCCCCACAA	0.502													T	47241497	C	T	47241497	3	4	38	1	0	0	0	0	1	0	0	0	1267	652	23	1	1042	1	B4GALNT2	17	47241497	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	4786386	47241497	33953713	93	35331											
MPO	4353	broad.mit.edu	37	chr17	56356886	56356886	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acccccagccagccgcacctGttgttgcacatcccggtgat	9	17	0	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr17:56356886G>C	uc002ivu.1	-	4	723	c.546C>G	c.(544-546)AAC>AAG	p.N182K		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	182					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)	AGCCGCACCTGTTGTTGCACA	0.652													C	56356886	G	C	56356886	3	2	38	1	0	0	0	0	1	0	0	0	9732	1368	48	5	1727	5	MPO	17	56356886	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	9115389	56356886	24838324	94	35332											
MGAT5B	146664	broad.mit.edu	37	chr17	74928759	74928759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaactccttcatgggcttcGtgtccgaggagctcaacgag	11	12	2	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr17:74928759G>A	uc002jti.2	+	10	1460	c.1357G>A	c.(1357-1359)GTG>ATG	p.V453M	MGAT5B_uc002jth.2_Missense_Mutation_p.V442M	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	N-acetylglucosaminyltranferase VB isoform 2	442	Lumenal (Potential).					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(2)|skin(1)	3						CATGGGCTTCGTGTCCGAGGA	0.617													A	74928759	G	A	74928759	3	1	38	1	0	0	0	0	1	0	0	0	9549	1145	40	1	1467	1	MGAT5B	17	74928759	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	18571873	74928759	6266451	95	35333											
MC5R	4161	broad.mit.edu	37	chr18	13826438	13826438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcgcggctctgcccggggCcagctctgcgcggcagagga	17	14	2	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr18:13826438C>T	uc010xaf.1	+	1	674	c.674C>T	c.(673-675)GCC>GTC	p.A225V		NM_005913	NP_005904	P33032	MC5R_HUMAN	melanocortin 5 receptor	225	Cytoplasmic (Potential).			ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			ovary(3)|lung(2)|breast(1)	6						CTGCCCGGGGCCAGCTCTGCG	0.622													T	13826438	C	T	13826438	3	4	38	1	0	0	0	0	1	0	0	0	9367	739	26	2	676	2	MC5R	18	13826438	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08		13826438	64250810	96	35334											
ZNF521	25925	broad.mit.edu	37	chr18	22805350	22805350	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acttgctcggaagctccattTgttccacagttgggtgtctt	10	10	1	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr18:22805350T>G	uc002kvk.2	-	4	2779	c.2532A>C	c.(2530-2532)ACA>ACC	p.T844T	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.T844T|ZNF521_uc002kvl.2_Silent_p.T624T	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	844					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AAGCTCCATTTGTTCCACAGT	0.478			T	PAX5	ALL								G	22805350	T	G	22805350	2	3	38	1	0	0	0	0	0	0	0	1	17962	1799	63	5		5	ZNF521	18	22805350	Silent	SNP	T	TCGA-BR-6705-01A-12D-1882-08	8978912	22805350	55271898	97	35335											
PIK3C3	5289	broad.mit.edu	37	chr18	39618752	39618752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgattaaaagctgttacGgaaagaaaatctggacttga	9	4	1	3			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr18:39618752G>A	uc002lap.2	+	18	2034	c.1976G>A	c.(1975-1977)CGG>CAG	p.R659Q	PIK3C3_uc010xcl.1_Missense_Mutation_p.R596Q|PIK3C3_uc002laq.2_Missense_Mutation_p.R144Q|PIK3C3_uc002lar.1_Missense_Mutation_p.R43Q	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	659	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10						AAGCTGTTACGGAAAGAAAAT	0.289										TSP Lung(28;0.18)			A	39618752	G	A	39618752	3	1	38	1	0	0	0	0	1	0	0	0	11912	1116	39	1	2046	1	PIK3C3	18	39618752	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	16813402	39618752	38458496	98	35336											
ANKRD24	170961	broad.mit.edu	37	chr19	4219595	4219595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgggccacaggtgcagcGtgaggccctgttcatgaaga	15	10	1	3			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr19:4219595G>A	uc010dtt.1	+	19	3287	c.3011G>A	c.(3010-3012)CGT>CAT	p.R1004H		NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1004	Potential.										0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CAGGTGCAGCGTGAGGCCCTG	0.557													A	4219595	G	A	4219595	3	1	38	1	0	0	0	0	1	0	0	0	653	1145	40	1	3081	1	ANKRD24	19	4219595	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08		4219595	54909388	99	35337											
MUC16	94025	broad.mit.edu	37	chr19	9056390	9056390	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatggggtagctgaagaggaAgttatctcatggagggctgg	17	4	1	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr19:9056390A>T	uc002mkp.2	-	3	31260	c.31056T>A	c.(31054-31056)ACT>ACA	p.T10352T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10354	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTGAAGAGGAAGTTATCTCAT	0.498													T	9056390	A	T	9056390	2	4	38	1	0	0	0	0	0	0	0	1	9973	59	3	5		5	MUC16	19	9056390	Silent	SNP	A	TCGA-BR-6705-01A-12D-1882-08	4836795	9056390	50072593	100	35338											
MUC16	94025	broad.mit.edu	37	chr19	9064152	9064152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgtggaaggatgcacgGcttctgtatgtgcagtgtct	14	6	2	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr19:9064152G>A	uc002mkp.2	-	3	23498	c.23294C>T	c.(23293-23295)GCC>GTC	p.A7765V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7767	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGGATGCACGGCTTCTGTATG	0.488													A	9064152	G	A	9064152	3	1	38	1	0	0	0	0	1	0	0	0	9973	1203	42	2	20557	2	MUC16	19	9064152	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	7762	9064152	50064831	101	35339											
IL12RB1	3594	broad.mit.edu	37	chr19	18183067	18183067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtggccttggccttacaCgggcaggacagcatgtggag	16	10	0	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr19:18183067C>T	uc002nhw.1	-	9	940	c.876G>A	c.(874-876)CCG>CCA	p.P292P	IL12RB1_uc010xqb.1_Silent_p.P292P|IL12RB1_uc002nhx.1_Silent_p.P332P|IL12RB1_uc002nhy.2_Silent_p.P292P	NM_005535	NP_005526	P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1 isoform 1	292	Extracellular (Potential).|Fibronectin type-III 3.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			pancreas(1)	1						TGGCCTTACACGGGCAGGACA	0.607													T	18183067	C	T	18183067	2	4	38	1	0	0	0	0	0	0	0	1	7626	523	19	1		1	IL12RB1	19	18183067	Silent	SNP	C	TCGA-BR-6705-01A-12D-1882-08	9118915	18183067	40945916	102	35340											
COMP	1311	broad.mit.edu	37	chr19	18898331	18898331	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcgtcgtcgcacgcatcGccccggccgtcctggtctgt	12	16	1	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr19:18898331G>A	uc002nke.2	-	10	1140	c.1104C>T	c.(1102-1104)GGC>GGT	p.G368G	COMP_uc002nkd.2_Silent_p.G335G|COMP_uc010xqj.1_Silent_p.G315G	NM_000095	NP_000086	P49747	COMP_HUMAN	cartilage oligomeric matrix protein precursor	368	Cell attachment site (Potential).|TSP type-3 4.		Missing (in EDM1).		anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding				0						CGCACGCATCGCCCCGGCCGT	0.687													A	18898331	G	A	18898331	2	1	38	1	0	0	0	0	0	0	0	1	3724	1074	38	1		1	COMP	19	18898331	Silent	SNP	G	TCGA-BR-6705-01A-12D-1882-08	715264	18898331	40230652	103	35341											
TSHZ3	57616	broad.mit.edu	37	chr19	31767522	31767522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccgtgtgttttgctaagGtgaagtttaacagcgtgctt	11	7	0	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr19:31767522G>A	uc002nsy.3	-	2	3242	c.3177C>T	c.(3175-3177)CAC>CAT	p.H1059H		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	1059	C2H2-type 5.				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					TTTTGCTAAGGTGAAGTTTAA	0.468													A	31767522	G	A	31767522	2	1	38	1	0	0	0	0	0	0	0	1	16622	1252	44	4		4	TSHZ3	19	31767522	Silent	SNP	G	TCGA-BR-6705-01A-12D-1882-08	12869191	31767522	27361461	104	35342											
ZNF540	163255	broad.mit.edu	37	chr19	38103644	38103644	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aattagtctacataagaaaaTtcatactgatgtgaagccct	6	7	2	3			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr19:38103644T>G	uc002ogq.2	+	5	1795	c.1463T>G	c.(1462-1464)ATT>AGT	p.I488S	ZNF540_uc002ogu.2_Missense_Mutation_p.I488S|ZNF540_uc010efq.2_Missense_Mutation_p.I456S	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	488	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATAAGAAAATTCATACTGAT	0.403													G	38103644	T	G	38103644	3	3	38	1	0	0	0	0	1	0	0	0	17972	1493	52	5	1477	5	ZNF540	19	38103644	Missense_Mutation	SNP	T	TCGA-BR-6705-01A-12D-1882-08	6336122	38103644	21025339	105	35343											
ZNF543	125919	broad.mit.edu	37	chr19	57839487	57839487	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctccttgttcagcatgaacgGattcacactcaagtgaagcc	8	12	3	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr19:57839487G>C	uc002qoi.1	+	4	1002	c.657G>C	c.(655-657)CGG>CGC	p.R219R		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	219	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGCATGAACGGATTCACACTC	0.443													C	57839487	G	C	57839487	2	2	38	1	0	0	0	0	0	0	0	1	17973	1161	41	5		5	ZNF543	19	57839487	Silent	SNP	G	TCGA-BR-6705-01A-12D-1882-08	19735843	57839487	1289496	106	35344											
ZNF256	10172	broad.mit.edu	37	chr19	58452476	58452476	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcctttctccggtatgaactCttcggtgtttaacgaggcta	10	10	2	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr19:58452476C>G	uc002qqu.2	-	3	1935	c.1700G>C	c.(1699-1701)AGA>ACA	p.R567T	ZNF256_uc010euj.2_Missense_Mutation_p.R414T	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	567	C2H2-type 13.				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GGTATGAACTCTTCGGTGTTT	0.453													G	58452476	C	G	58452476	3	3	38	1	0	0	0	0	1	0	0	0	17796	913	32	5	187	5	ZNF256	19	58452476	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	612989	58452476	676507	107	35345											
SLC27A5	10998	broad.mit.edu	37	chr19	59010878	59010878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggaaggtgtccccgaggcGgtcgcggaagtagaggaagc	18	10	0	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr19:59010878G>A	uc002qtc.2	-	7	1758	c.1648C>T	c.(1648-1650)CGC>TGC	p.R550C	SLC27A5_uc002qtb.2_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid	550	Cytoplasmic (Probable).				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		TCCCCGAGGCGGTCGCGGAAG	0.657													A	59010878	G	A	59010878	3	1	38	1	0	0	0	0	1	0	0	0	14529	1116	39	1	440	1	SLC27A5	19	59010878	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	558402	59010878	118105	108	35346											
RASSF2	9770	broad.mit.edu	37	chr20	4771182	4771182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcctcacattgccacggCgacgcaccccaacatcactg	8	18	2	0	rs145831009	byFrequency	TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr20:4771182C>T	uc002wld.2	-	6	506	c.452G>A	c.(451-453)CGC>CAC	p.R151H	RASSF2_uc002wlc.2_RNA|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.R151H	NM_170774	NP_739580	P50749	RASF2_HUMAN	Ras association domain family 2	151					cell cycle|signal transduction	nucleus	protein binding			ovary(3)|lung(2)|large_intestine(1)	6						ATTGCCACGGCGACGCACCCC	0.592													T	4771182	C	T	4771182	3	4	38	1	0	0	0	0	1	0	0	0	13086	768	27	1	552	1	RASSF2	20	4771182	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08		4771182	58254338	109	35347											
ACSS1	84532	broad.mit.edu	37	chr20	25004206	25004206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttcacagcctcatccaCtattttcttcagctccacca	4	16	4	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr20:25004206C>T	uc002wub.2	-	4	1581	c.703G>A	c.(703-705)GTG>ATG	p.V235M	ACSS1_uc002wuc.2_Missense_Mutation_p.V235M|ACSS1_uc010gdc.2_Intron|ACSS1_uc002wud.1_5'Flank|ACSS1_uc002wua.2_Missense_Mutation_p.V152M	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	235					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCCTCATCCACTATTTTCTTC	0.557													T	25004206	C	T	25004206	3	4	38	1	0	0	0	0	1	0	0	0	188	565	20	4	1410	4	ACSS1	20	25004206	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	20233024	25004206	38021314	110	35348											
PKIG	11142	broad.mit.edu	37	chr20	43243200	43243200	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggagcgatgcgacaggcatGatggaggtcgagtcctccta	15	9	0	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr20:43243200G>A	uc002xmg.2	+	5	532	c.3G>A	c.(1-3)ATG>ATA	p.M1I	PKIG_uc002xmh.2_Missense_Mutation_p.M1I|PKIG_uc002xmi.2_Missense_Mutation_p.M1I	NM_181805	NP_861521	Q9Y2B9	IPKG_HUMAN	cAMP-dependent protein kinase inhibitor gamma	1							cAMP-dependent protein kinase inhibitor activity|protein binding				0		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			CGACAGGCATGATGGAGGTCG	0.607													A	43243200	G	A	43243200	3	1	38	1	0	0	0	0	1	0	0	0	11975	1290	45	4	5	4	PKIG	20	43243200	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08	18238994	43243200	19782320	111	35349											
KRTAP13-3	337960	broad.mit.edu	37	chr21	31797958	31797958	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacatgcatagtcaggcaAgaattgcagagcatgtgagt	11	8	1	3			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr21:31797958A>G	uc002yob.1	-	1	273	c.273T>C	c.(271-273)TCT>TCC	p.S91S		NM_181622	NP_853653	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	91	5 X 10 AA approximate repeats.					intermediate filament				ovary(1)|lung(1)	2						TAGTCAGGCAAGAATTGCAGA	0.567													G	31797958	A	G	31797958	2	3	38	1	0	0	0	0	0	0	0	1	8524	59	3	3		3	KRTAP13-3	21	31797958	Silent	SNP	A	TCGA-BR-6705-01A-12D-1882-08		31797958	16331937	112	35350											
ETS2	2114	broad.mit.edu	37	chr21	40186841	40186841	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaccttggcaaggaacgcttTctggagctggcacctgactt	11	11	1	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr21:40186841T>A	uc002yxg.2	+	5	637	c.441T>A	c.(439-441)TTT>TTA	p.F147L	ETS2_uc002yxf.2_Missense_Mutation_p.F287L	NM_005239	NP_005230	P15036	ETS2_HUMAN	v-ets erythroblastosis virus E26 oncogene	147	PNT.				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)|pancreas(1)	4		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				AGGAACGCTTTCTGGAGCTGG	0.512													A	40186841	T	A	40186841	3	1	38	1	0	0	0	0	1	0	0	0	5276	1780	62	5	455	5	ETS2	21	40186841	Missense_Mutation	SNP	T	TCGA-BR-6705-01A-12D-1882-08	8388883	40186841	7943054	113	35351											
GAB4	128954	broad.mit.edu	37	chr22	17472913	17472913	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatctccttcttgttgaAgttcagagtcacatcaacat	6	10	5	3			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr22:17472913A>C	uc002zlw.2	-	2	436	c.328T>G	c.(328-330)TTC>GTC	p.F110V	GAB4_uc010gqs.1_Missense_Mutation_p.F110V	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	110	PH.									large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TTCTTGTTGAAGTTCAGAGTC	0.478													C	17472913	A	C	17472913	3	2	38	1	0	0	0	0	1	0	0	0	6151	72	3	5	1432	5	GAB4	22	17472913	Missense_Mutation	SNP	A	TCGA-BR-6705-01A-12D-1882-08		17472913	33831653	114	35352											
PLA2G3	50487	broad.mit.edu	37	chr22	31533854	31533854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccgaaggtgctgcttctgtCgaggcttgggaggggctggg	19	8	1	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr22:31533854C>T	uc003aka.2	-	4	1037	c.908G>A	c.(907-909)CGA>CAA	p.R303Q		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	303					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0						CTGCTTCTGTCGAGGCTTGGG	0.657													T	31533854	C	T	31533854	3	4	38	1	0	0	0	0	1	0	0	0	12000	884	31	1	637	1	PLA2G3	22	31533854	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	14060941	31533854	19770712	115	35353											
TRIOBP	11078	broad.mit.edu	37	chr22	38120424	38120424	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctcccaatagagccacaCgagataaccccagaacatcc	5	17	1	3			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chr22:38120424C>T	uc003atr.2	+	7	2132	c.1861C>T	c.(1861-1863)CGA>TGA	p.R621*	TRIOBP_uc003atu.2_Nonsense_Mutation_p.R449*|TRIOBP_uc003atq.1_Nonsense_Mutation_p.R621*|TRIOBP_uc003ats.1_Nonsense_Mutation_p.R449*	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	621					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					TAGAGCCACACGAGATAACCC	0.582													T	38120424	C	T	38120424	4	4	38	1	0	0	0	0	0	1	0	0	16550	528	19	1	1879	1	TRIOBP	22	38120424	Nonsense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	6586570	38120424	13184142	116	35354											
MID1	4281	broad.mit.edu	37	chrX	10450560	10450560	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtctgtaggaaacgcgcatGatcattctccttcagagagt	10	9	4	2			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chrX:10450560G>A	uc004cte.3	-	5	1164	c.973C>T	c.(973-975)CAT>TAT	p.H325Y	MID1_uc004ctd.3_Missense_Mutation_p.H36Y|MID1_uc004ctg.3_Missense_Mutation_p.H325Y|MID1_uc004cth.3_Missense_Mutation_p.H287Y|MID1_uc004ctk.3_Missense_Mutation_p.H325Y|MID1_uc004cti.3_Missense_Mutation_p.H325Y|MID1_uc004ctj.3_Missense_Mutation_p.H325Y|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Missense_Mutation_p.H376Y|MID1_uc004ctn.1_Missense_Mutation_p.H325Y|MID1_uc004cto.1_Missense_Mutation_p.H287Y|MID1_uc010ndw.1_Missense_Mutation_p.H36Y|MID1_uc004cts.1_Missense_Mutation_p.H92Y|MID1_uc004ctt.2_Missense_Mutation_p.H376Y|MID1_uc004ctu.2_Missense_Mutation_p.H325Y|MID1_uc004ctv.2_Missense_Mutation_p.H338Y|MID1_uc004ctw.2_Missense_Mutation_p.H287Y|MID1_uc010ndy.1_Missense_Mutation_p.H289Y|MID1_uc004ctc.3_Missense_Mutation_p.H92Y|MID1_uc004ctp.1_Intron|MID1_uc004ctq.1_Missense_Mutation_p.H92Y|MID1_uc004ctr.1_Missense_Mutation_p.H92Y|MID1_uc010ndu.1_Missense_Mutation_p.H92Y|MID1_uc010ndv.1_Missense_Mutation_p.H36Y|MID1_uc010ndx.1_RNA	NM_033290	NP_150632	O15344	TRI18_HUMAN	midline 1	325	COS.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|pancreas(1)	3						AAACGCGCATGATCATTCTCC	0.527													A	10450560	G	A	10450560	3	1	38	1	0	0	0	0	1	0	0	0	9576	1290	45	4	1054	4	MID1	23	10450560	Missense_Mutation	SNP	G	TCGA-BR-6705-01A-12D-1882-08		10450560	144820000	117	35355											
FAM48B2	170067	broad.mit.edu	37	chrX	24330059	24330059	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtgcggggaggtggatgtttCtctcccttcccggatactga	14	10	1	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chrX:24330059C>G	uc011mjw.1	-	1	1374	c.1374G>C	c.(1372-1374)GAG>GAC	p.E458D		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	family with sequence similarity 48, member B2	458											0						GTGGATGTTTCTCTCCCTTCC	0.552													G	24330059	C	G	24330059	3	3	38	1	0	0	0	0	1	0	0	0	5574	912	32	5	1082	5	FAM48B2	23	24330059	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	13879499	24330059	130940501	118	35356											
NAP1L3	4675	broad.mit.edu	37	chrX	92928030	92928030	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccacgaaatttgttcccaAcggggcccgccgcgcccttc	9	17	0	0			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chrX:92928030A>G	uc004efq.2	-	1	579	c.274T>C	c.(274-276)TTG>CTG	p.L92L	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	92					nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2						TTTGTTCCCAACGGGGCCCGC	0.398													G	92928030	A	G	92928030	2	3	38	1	0	0	0	0	0	0	0	1	10158	40	2	3		3	NAP1L3	23	92928030	Silent	SNP	A	TCGA-BR-6705-01A-12D-1882-08	68597971	92928030	62342530	119	35357											
KLHL13	90293	broad.mit.edu	37	chrX	117033040	117033040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactatctctaccatacaaCgattattccaagaatacccc	3	14	1	1			TCGA-BR-6705-01A-12D-1882-08	TCGA-BR-6705-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02c5e07a-0986-4860-b192-0cf8d4fce7ce	ba6c6e1c-d481-4e30-a777-a943c3566d4b	g.chrX:117033040C>T	uc004eql.2	-	7	1861	c.1799G>A	c.(1798-1800)CGT>CAT	p.R600H	KLHL13_uc004eqk.2_Missense_Mutation_p.R549H|KLHL13_uc011mtn.1_Missense_Mutation_p.R440H|KLHL13_uc011mto.1_Missense_Mutation_p.R594H|KLHL13_uc011mtp.1_Missense_Mutation_p.R602H|KLHL13_uc004eqm.2_Missense_Mutation_p.R549H|KLHL13_uc011mtq.1_Missense_Mutation_p.R584H	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	600	Kelch 6.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)|skin(1)	2						TACCATACAACGATTATTCCA	0.438													T	117033040	C	T	117033040	3	4	38	1	0	0	0	0	1	0	0	0	8369	536	19	1	172	1	KLHL13	23	117033040	Missense_Mutation	SNP	C	TCGA-BR-6705-01A-12D-1882-08	24105010	117033040	38237520	120	35358											
MEGF6	1953	broad.mit.edu	37	chr1	3427384	3427384	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcactgagccggtagccGgcgtagcagccgcactcgta	14	14	0	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr1:3427384G>A	uc001akl.2	-	10	1424	c.1197C>T	c.(1195-1197)GCC>GCT	p.A399A	MEGF6_uc001akk.2_Silent_p.A294A	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	399	EGF-like 7.					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCGGTAGCCGGCGTAGCAGC	0.672													A	3427384	G	A	3427384	2	1	39	1	0	0	0	0	0	0	0	1	9462	1103	39	1		1	MEGF6	1	3427384	Silent	SNP	G	TCGA-BR-6706-01A-11D-1882-08		3427384	245823237	1	35359											
PER3	8863	broad.mit.edu	37	chr1	7886602	7886602	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagccagcccctttgaccTcggaagaatttaaacacgtg	9	12	0	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr1:7886602T>C	uc001aoo.2	+	16	2171	c.1996T>C	c.(1996-1998)TCG>CCG	p.S666P	PER3_uc009vmg.1_Missense_Mutation_p.S674P|PER3_uc009vmh.1_Missense_Mutation_p.S667P|PER3_uc001aop.2_Missense_Mutation_p.S674P|PER3_uc010nzw.1_Missense_Mutation_p.S355P	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	666	CSNK1E binding domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTTTGACCTCGGAAGAATT	0.478													C	7886602	T	C	7886602	3	2	39	1	0	0	0	0	1	0	0	0	11731	1551	54	3	2058	3	PER3	1	7886602	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	4459218	7886602	241364019	2	35360											
DLGAP3	58512	broad.mit.edu	37	chr1	35369893	35369893	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctgcagatagtgataAgtcctggctttggccttggt	11	10	1	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr1:35369893A>G	uc001byc.2	-	1	1092	c.1092T>C	c.(1090-1092)ACT>ACC	p.T364T		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	364					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				GATAGTGATAAGTCCTGGCTT	0.602													G	35369893	A	G	35369893	2	3	39	1	0	0	0	0	0	0	0	1	4561	59	3	3		3	DLGAP3	1	35369893	Silent	SNP	A	TCGA-BR-6706-01A-11D-1882-08	27483291	35369893	213880728	3	35361											
MRPS15	64960	broad.mit.edu	37	chr1	36926911	36926911	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcttttcacgacatcatcaAccctgtggataaaccacagc	6	13	4	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr1:36926911A>G	uc001cas.2	-	4	418	c.254T>C	c.(253-255)GTT>GCT	p.V85A		NM_031280	NP_112570	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15 precursor	85					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GACATCATCAACCCTGTGGAT	0.453													G	36926911	A	G	36926911	3	3	39	1	0	0	0	0	1	0	0	0	9825	43	2	3	539	3	MRPS15	1	36926911	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	1557018	36926911	212323710	4	35362											
ZNF643	65243	broad.mit.edu	37	chr1	40929053	40929053	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatacatctttctatccatcAgagagtccatactggagtaa	6	9	3	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr1:40929053A>G	uc001cfn.1	+	5	1694	c.1397A>G	c.(1396-1398)CAG>CGG	p.Q466R	ZNF643_uc001cfl.1_Missense_Mutation_p.Q364R|ZNF643_uc001cfm.1_Missense_Mutation_p.Q332R	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	zinc finger protein 643	466	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			TCTATCCATCAGAGAGTCCAT	0.393													G	40929053	A	G	40929053	3	3	39	1	0	0	0	0	1	0	0	0	18056	188	7	3	1415	3	ZNF643	1	40929053	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	4002142	40929053	208321568	5	35363											
PGM1	5236	broad.mit.edu	37	chr1	64100648	64100648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctggtggagaccatgaaGtcaggagagcatgattttgg	15	6	1	4			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr1:64100648G>A	uc001dbh.2	+	5	1044	c.831G>A	c.(829-831)AAG>AAA	p.K277K	PGM1_uc010ooy.1_Silent_p.K80K|PGM1_uc010ooz.1_Silent_p.K295K	NM_002633	NP_002624	P36871	PGM1_HUMAN	phosphoglucomutase 1	277					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			ovary(2)|kidney(1)	3						AGACCATGAAGTCAGGAGAGC	0.552													A	64100648	G	A	64100648	2	1	39	1	0	0	0	0	0	0	0	1	11797	1020	36	4		4	PGM1	1	64100648	Silent	SNP	G	TCGA-BR-6706-01A-11D-1882-08	23171595	64100648	185149973	6	35364											
WDR63	126820	broad.mit.edu	37	chr1	85551632	85551632	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacagcctacccagataaaaAttttacccttaaacaacttg	3	11	0	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr1:85551632A>C	uc001dkt.2	+	7	850	c.659A>C	c.(658-660)AAT>ACT	p.N220T	WDR63_uc009wcl.2_Missense_Mutation_p.N220T	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	220										upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CCAGATAAAAATTTTACCCTT	0.378													C	85551632	A	C	85551632	3	2	39	1	0	0	0	0	1	0	0	0	17311	101	4	5	681	5	WDR63	1	85551632	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	21450984	85551632	163698989	7	35365											
NGF	4803	broad.mit.edu	37	chr1	115828920	115828920	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtttgaatacactgttgTtaatgttcacctctcccaac	5	11	2	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr1:115828920T>G	uc001efu.1	-	3	666	c.497A>C	c.(496-498)AAC>ACC	p.N166T		NM_002506	NP_002497	P01138	NGF_HUMAN	nerve growth factor, beta polypeptide precursor	166					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			upper_aerodigestive_tract(2)	2	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TACACTGTTGTTAATGTTCAC	0.522													G	115828920	T	G	115828920	3	3	39	1	0	0	0	0	1	0	0	0	10395	1725	60	5	232	5	NGF	1	115828920	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	30277288	115828920	133421701	8	35366											
POGZ	23126	broad.mit.edu	37	chr1	151384863	151384863	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaacgcccattcacagatcTtgcacttggctgtaagaaga	8	11	2	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr1:151384863T>G	uc001eyd.1	-	11	1994	c.1688A>C	c.(1687-1689)AAG>ACG	p.K563T	POGZ_uc001eye.1_Missense_Mutation_p.K510T|POGZ_uc010pdb.1_Missense_Mutation_p.K554T|POGZ_uc001eyf.1_Missense_Mutation_p.K510T|POGZ_uc010pdc.1_Missense_Mutation_p.K501T|POGZ_uc009wmv.1_Missense_Mutation_p.K468T|POGZ_uc010pdd.1_Missense_Mutation_p.K54T	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	563	C2H2-type 4.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTCACAGATCTTGCACTTGGC	0.393													G	151384863	T	G	151384863	3	3	39	1	0	0	0	0	1	0	0	0	12186	1609	56	5	2580	5	POGZ	1	151384863	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	35555943	151384863	97865758	9	35367											
TCHH	7062	broad.mit.edu	37	chr1	152080591	152080591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctctcgttcctgacggCggagctgctgttcctcttcg	10	14	3	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr1:152080591C>T	uc001ezp.2	-	2	5102	c.5102G>A	c.(5101-5103)CGC>CAC	p.R1701H	TCHH_uc009wne.1_Missense_Mutation_p.R1701H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1701	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTGACGGCGGAGCTGCTG	0.567													T	152080591	C	T	152080591	3	4	39	1	0	0	0	0	1	0	0	0	15697	768	27	1	733	1	TCHH	1	152080591	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	695728	152080591	97170030	10	35368											
SH2D2A	9047	broad.mit.edu	37	chr1	156779580	156779580	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcttcggtcctcagggaaAgtcctgcaggctcaggagtc	12	11	3	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr1:156779580A>G	uc001fqd.2	-	6	727	c.587T>C	c.(586-588)CTT>CCT	p.L196P	SH2D2A_uc001fqc.1_Missense_Mutation_p.L168P|SH2D2A_uc009wsh.2_Missense_Mutation_p.L206P|SH2D2A_uc001fqe.2_Missense_Mutation_p.L178P|SH2D2A_uc010phs.1_Missense_Mutation_p.L196P	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN	SH2 domain protein 2A isoform 2	196	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity				0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTCAGGGAAAGTCCTGCAGG	0.557													G	156779580	A	G	156779580	3	3	39	1	0	0	0	0	1	0	0	0	14232	72	3	3	594	3	SH2D2A	1	156779580	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	4698989	156779580	92471041	11	35369											
FCRL3	115352	broad.mit.edu	37	chr1	157668201	157668201	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaattccacatgcacggcatCactgagggaggatcctcggg	12	11	1	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr1:157668201C>T	uc001frb.2	-	4	563	c.271G>A	c.(271-273)GAT>AAT	p.D91N	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.D91N|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'Flank|FCRL3_uc001frc.1_Missense_Mutation_p.D91N	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	91	Ig-like C2-type 1.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					TGCACGGCATCACTGAGGGAG	0.473													T	157668201	C	T	157668201	3	4	39	1	0	0	0	0	1	0	0	0	5796	826	29	4	1981	4	FCRL3	1	157668201	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	888621	157668201	91582420	12	35370											
DYRK3	8444	broad.mit.edu	37	chr1	206821103	206821103	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttattggtggtcccaataAtggagggtatgatgatgcag	14	4	0	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr1:206821103A>C	uc001hej.2	+	3	728	c.560A>C	c.(559-561)AAT>ACT	p.N187T	DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.N167T	NM_003582	NP_003573	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	187					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|central_nervous_system(1)	3	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GGTCCCAATAATGGAGGGTAT	0.398													C	206821103	A	C	206821103	3	2	39	1	0	0	0	0	1	0	0	0	4857	101	4	5	591	5	DYRK3	1	206821103	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	49152902	206821103	42429518	13	35371											
GPATCH2	55105	broad.mit.edu	37	chr1	217793304	217793304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaattcttgatactggtaGgctctatcactgtccatgtc	8	9	3	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr1:217793304G>A	uc001hlf.1	-	2	690	c.594C>T	c.(592-594)GCC>GCT	p.A198A	GPATCH2_uc001hlg.3_Silent_p.A198A	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	198						intracellular	nucleic acid binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GATACTGGTAGGCTCTATCAC	0.408													A	217793304	G	A	217793304	2	1	39	1	0	0	0	0	0	0	0	1	6591	987	35	4		4	GPATCH2	1	217793304	Silent	SNP	G	TCGA-BR-6706-01A-11D-1882-08	10972201	217793304	31457317	14	35372											
LYST	1130	broad.mit.edu	37	chr1	235918837	235918837	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaagcattctaacaattcTtgagttcctcgatgaagata	7	7	2	4			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr1:235918837T>G	uc001hxj.2	-	25	7345	c.7170A>C	c.(7168-7170)CAA>CAC	p.Q2390H	LYST_uc009xga.1_5'Flank	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2390					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTAACAATTCTTGAGTTCCTC	0.373									Chediak-Higashi_syndrome				G	235918837	T	G	235918837	3	3	39	1	0	0	0	0	1	0	0	0	9128	1606	56	5	4351	5	LYST	1	235918837	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	18125533	235918837	13331784	15	35373											
ZP4	57829	broad.mit.edu	37	chr1	238049070	238049070	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatacctttggcaatctgaAgttccagagtgaggggtcca	11	9	2	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr1:238049070A>C	uc001hym.2	-	7	956	c.956T>G	c.(955-957)CTT>CGT	p.L319R	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	319	ZP.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGCAATCTGAAGTTCCAGAGT	0.498													C	238049070	A	C	238049070	3	2	39	1	0	0	0	0	1	0	0	0	18215	72	3	5	690	5	ZP4	1	238049070	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	2130233	238049070	11201551	16	35374											
OR2L8	391190	broad.mit.edu	37	chr1	248113081	248113081	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgagtgagtcagagaatcTgctctgtgaaaatgtagaaa	11	6	3	4			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr1:248113081T>C	uc001idt.1	+	1	922	c.922T>C	c.(922-924)TGC>CGC	p.C308R	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCAGAGAATCTGCTCTGTGAA	0.448													C	248113081	T	C	248113081	3	2	39	1	0	0	0	0	1	0	0	0	11009	1580	55	3	924	3	OR2L8	1	248113081	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	10064011	248113081	1137540	17	35375											
IL1R2	7850	broad.mit.edu	37	chr2	102625053	102625053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaatgttgcgcttgtacGtgttggtaatgggagtttct	14	5	1	0	rs148522700		TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr2:102625053G>A	uc002tbm.2	+	2	245	c.16G>A	c.(16-18)GTG>ATG	p.V6M	IL1R2_uc002tbn.2_Missense_Mutation_p.V6M|IL1R2_uc002tbo.1_Missense_Mutation_p.V6M	NM_004633	NP_004624	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II precursor	6					immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			ovary(1)|breast(1)	2					Anakinra(DB00026)	GCGCTTGTACGTGTTGGTAAT	0.532													A	102625053	G	A	102625053	3	1	39	1	0	0	0	0	1	0	0	0	7659	1145	40	1	18	1	IL1R2	2	102625053	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08		102625053	140574320	18	35376											
EDAR	10913	broad.mit.edu	37	chr2	109513596	109513596	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaggtggcgccacgtttTcacaacagccttctcagagt	12	12	2	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr2:109513596T>G	uc002teq.3	-	12	1545	c.1114A>C	c.(1114-1116)AAA>CAA	p.K372Q	EDAR_uc010fjn.2_Missense_Mutation_p.K404Q|EDAR_uc010yws.1_Missense_Mutation_p.K404Q	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	372	Death.|Cytoplasmic (Potential).				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1						CGCCACGTTTTCACAACAGCC	0.572													G	109513596	T	G	109513596	3	3	39	1	0	0	0	0	1	0	0	0	4905	1792	62	5	236	5	EDAR	2	109513596	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	6888543	109513596	133685777	19	35377											
DPP10	57628	broad.mit.edu	37	chr2	115200414	115200414	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaccctcaaaaacaatcaAggtaggatctggtttttccc	6	11	4	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr2:115200414A>G	uc002tla.1	+	1	516	c.59A>G	c.(58-60)AAG>AGG	p.K20R		NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	20	Mediates effects on KCND2.|Cytoplasmic (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						AAAACAATCAAGGTAGGATCT	0.483													G	115200414	A	G	115200414	3	3	39	1	0	0	0	0	1	0	0	0	4727	86	3	3	61	3	DPP10	2	115200414	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	5686818	115200414	127998959	20	35378											
CCDC93	54520	broad.mit.edu	37	chr2	118698836	118698836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctagggacttcatcaatcTtgcggtgcaaaattgctatt	10	8	3	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr2:118698836T>C	uc002tlj.2	-	19	1577	c.1451A>G	c.(1450-1452)AAG>AGG	p.K484R	CCDC93_uc010fld.1_Missense_Mutation_p.K484R	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	484										large_intestine(1)|ovary(1)	2						TTCATCAATCTTGCGGTGCAA	0.438													C	118698836	T	C	118698836	3	2	39	1	0	0	0	0	1	0	0	0	2872	1609	56	3	468	3	CCDC93	2	118698836	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	3498422	118698836	124500537	21	35379											
MGAT5	4249	broad.mit.edu	37	chr2	135206285	135206285	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccctcctttgaccctaAgaataagcactgtgtgtttc	9	11	0	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr2:135206285A>C	uc002ttv.1	+	16	2238	c.2093A>C	c.(2092-2094)AAG>ACG	p.K698T	LOC151162_uc002ttw.3_5'Flank	NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	698	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TTTGACCCTAAGAATAAGCAC	0.562													C	135206285	A	C	135206285	3	2	39	1	0	0	0	0	1	0	0	0	9548	72	3	5	2155	5	MGAT5	2	135206285	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	16507449	135206285	107993088	22	35380											
THSD7B	80731	broad.mit.edu	37	chr2	138208477	138208477	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagttaagcgattggtctAgttgggggtcttgcagttca	14	6	3	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr2:138208477A>G	uc002tva.1	+	14	2929	c.2929A>G	c.(2929-2931)AGT>GGT	p.S977G	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGATTGGTCTAGTTGGGGGTC	0.393													G	138208477	A	G	138208477	3	3	39	1	0	0	0	0	1	0	0	0	15877	420	15	3	2983	3	THSD7B	2	138208477	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	3002192	138208477	104990896	23	35381											
LRP1B	53353	broad.mit.edu	37	chr2	141625218	141625218	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atggctgtgcactggttttcTgaatcacactgacattctgc	9	10	3	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr2:141625218T>G	uc002tvj.1	-	27	5492	c.4520A>C	c.(4519-4521)CAG>CCG	p.Q1507P	LRP1B_uc010fnl.1_Missense_Mutation_p.Q689P	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1507	Extracellular (Potential).|LDL-receptor class B 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTGGTTTTCTGAATCACACT	0.473										TSP Lung(27;0.18)			G	141625218	T	G	141625218	3	3	39	1	0	0	0	0	1	0	0	0	8955	1580	55	5	9539	5	LRP1B	2	141625218	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	3416741	141625218	101574155	24	35382											
GCG	2641	broad.mit.edu	37	chr2	163000597	163000597	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcggcaagattatcaAgaatggtgttcatctcatca	9	10	4	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr2:163000597A>G	uc002ucc.2	-	5	575	c.476T>C	c.(475-477)CTT>CCT	p.L159P		NM_002054	NP_002045	P01275	GLUC_HUMAN	glucagon preproprotein	159					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity				0					Exenatide(DB01276)|Phentolamine(DB00692)	AAGATTATCAAGAATGGTGTT	0.398													G	163000597	A	G	163000597	3	3	39	1	0	0	0	0	1	0	0	0	6290	72	3	3	74	3	GCG	2	163000597	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	21375379	163000597	80198776	25	35383											
KCNH7	90134	broad.mit.edu	37	chr2	163241356	163241356	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caatggaggagatgaaagatGaggatctgctttttttctct	11	5	2	4			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr2:163241356G>A	uc002uch.1	-	13	3016	c.2804C>T	c.(2803-2805)TCA>TTA	p.S935L		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	935	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	GATGAAAGATGAGGATCTGCT	0.408													A	163241356	G	A	163241356	3	1	39	1	0	0	0	0	1	0	0	0	8037	1294	45	4	802	4	KCNH7	2	163241356	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	240759	163241356	79958017	26	35384											
CSRNP3	80034	broad.mit.edu	37	chr2	166535430	166535430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggccctgtcgctcactccGtagaatattcaatcgcagac	9	13	2	2	rs141222366		TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr2:166535430G>A	uc002udf.2	+	7	1301	c.925G>A	c.(925-927)GTA>ATA	p.V309I	CSRNP3_uc002udg.2_Missense_Mutation_p.V309I	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	309					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						CGCTCACTCCGTAGAATATTC	0.507													A	166535430	G	A	166535430	3	1	39	1	0	0	0	0	1	0	0	0	3965	1145	40	1	939	1	CSRNP3	2	166535430	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	3294074	166535430	76663943	27	35385											
XIRP2	129446	broad.mit.edu	37	chr2	168100111	168100111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagaagtataaaatgtttcGaaactcaaccattatatgtt	5	5	1	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr2:168100111G>A	uc002udx.2	+	8	2227	c.2209G>A	c.(2209-2211)GAA>AAA	p.E737K	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E562K|XIRP2_uc010fpq.2_Missense_Mutation_p.E515K|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	562	Xin 6.				actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AAAATGTTTCGAAACTCAACC	0.373													A	168100111	G	A	168100111	3	1	39	1	0	0	0	0	1	0	0	0	17427	1059	37	1	2239	1	XIRP2	2	168100111	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	1564681	168100111	75099262	28	35386											
TTN	7273	broad.mit.edu	37	chr2	179425966	179425966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataattgcacttcagccacCggccatctggtagttctctg	8	12	3	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr2:179425966C>T	uc010zfg.1	-	275	77413	c.77189G>A	c.(77188-77190)CGG>CAG	p.R25730Q	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R19425Q|TTN_uc010zfi.1_Missense_Mutation_p.R19358Q|TTN_uc010zfj.1_Missense_Mutation_p.R19233Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26657							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCAGCCACCGGCCATCTGG	0.383													T	179425966	C	T	179425966	3	4	39	1	0	0	0	0	1	0	0	0	16732	652	23	1	23234	1	TTN	2	179425966	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	11325855	179425966	63773407	29	35387											
TTN	7273	broad.mit.edu	37	chr2	179445318	179445318	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttccttaagtccgcatcaAgttctccctcaggtggaact	7	13	4	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr2:179445318A>C	uc010zfg.1	-	266	59308	c.59084T>G	c.(59083-59085)CTT>CGT	p.L19695R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L13390R|TTN_uc010zfi.1_Missense_Mutation_p.L13323R|TTN_uc010zfj.1_Missense_Mutation_p.L13198R|uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20622							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCCGCATCAAGTTCTCCCTC	0.393													C	179445318	A	C	179445318	3	2	39	1	0	0	0	0	1	0	0	0	16732	72	3	5	41375	5	TTN	2	179445318	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	19352	179445318	63754055	30	35388											
TTN	7273	broad.mit.edu	37	chr2	179452255	179452255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacccacctaatactctgaCatttacgaatacagcctttt	3	12	1	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr2:179452255C>T	uc010zfg.1	-	255	56301	c.56077G>A	c.(56077-56079)GTC>ATC	p.V18693I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V12388I|TTN_uc010zfi.1_Missense_Mutation_p.V12321I|TTN_uc010zfj.1_Missense_Mutation_p.V12196I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19620							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATACTCTGACATTTACGAAT	0.398													T	179452255	C	T	179452255	3	4	39	1	0	0	0	0	1	0	0	0	16732	478	17	4	44426	4	TTN	2	179452255	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	6937	179452255	63747118	31	35389											
TTN	7273	broad.mit.edu	37	chr2	179458569	179458569	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcacctcatcaaaactaacTggtcctactggtggtccagg	9	12	3	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr2:179458569T>C	uc010zfg.1	-	247	50978	c.50754A>G	c.(50752-50754)CCA>CCG	p.P16918P	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.P10613P|TTN_uc010zfi.1_Silent_p.P10546P|TTN_uc010zfj.1_Silent_p.P10421P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17845							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAAACTAACTGGTCCTACTG	0.373													C	179458569	T	C	179458569	2	2	39	1	0	0	0	0	0	0	0	1	16732	1567	55	3		3	TTN	2	179458569	Silent	SNP	T	TCGA-BR-6706-01A-11D-1882-08	6314	179458569	63740804	32	35390											
PLCL1	5334	broad.mit.edu	37	chr2	198950584	198950584	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcctatttttgatgaaacTtttgagttccaagtaaacct	5	7	0	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr2:198950584T>C	uc010fsp.2	+	2	2634	c.2343T>C	c.(2341-2343)ACT>ACC	p.T781T	PLCL1_uc002uuv.3_Silent_p.T702T	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	781	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	TTGATGAAACTTTTGAGTTCC	0.388													C	198950584	T	C	198950584	2	2	39	1	0	0	0	0	0	0	0	1	12039	1596	56	3		3	PLCL1	2	198950584	Silent	SNP	T	TCGA-BR-6706-01A-11D-1882-08	19492015	198950584	44248789	33	35391											
IKZF2	22807	broad.mit.edu	37	chr2	213878645	213878645	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctcttgttccttacaatcTtccataggaggtactataca	7	10	2	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr2:213878645T>C	uc002vem.2	-	7	895	c.726A>G	c.(724-726)GAA>GAG	p.E242E	IKZF2_uc010fuu.2_Silent_p.E97E|IKZF2_uc002vej.2_Silent_p.E189E|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Intron|IKZF2_uc002vel.2_Silent_p.E163E|IKZF2_uc010fuw.2_Silent_p.E16E|IKZF2_uc010fux.2_Silent_p.E16E|IKZF2_uc010fuy.2_Silent_p.E170E|IKZF2_uc002ven.2_Silent_p.E216E|IKZF2_uc002vei.2_Silent_p.E20E	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	helios isoform 1	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CCTTACAATCTTCCATAGGAG	0.383													C	213878645	T	C	213878645	2	2	39	1	0	0	0	0	0	0	0	1	7615	1606	56	3		3	IKZF2	2	213878645	Silent	SNP	T	TCGA-BR-6706-01A-11D-1882-08	14928061	213878645	29320728	34	35392											
CNTN6	27255	broad.mit.edu	37	chr3	1415438	1415438	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtgggttggcaggctgTtgctacaggtgagtgacaaa	15	6	1	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr3:1415438T>G	uc003boz.2	+	15	2204	c.1937T>G	c.(1936-1938)GTT>GGT	p.V646G	CNTN6_uc011asj.1_Missense_Mutation_p.V574G|CNTN6_uc003bpa.2_Missense_Mutation_p.V646G	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	646	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGGCAGGCTGTTGCTACAGGT	0.299													G	1415438	T	G	1415438	3	3	39	1	0	0	0	0	1	0	0	0	3645	1725	60	5	1991	5	CNTN6	3	1415438	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08		1415438	196606992	35	35393											
C3orf20	84077	broad.mit.edu	37	chr3	14770025	14770025	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagatccagaactcatccCgagcggctccccaagctaag	9	14	1	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr3:14770025C>T	uc003byy.2	+	12	2174	c.1770C>T	c.(1768-1770)CCC>CCT	p.P590P	C3orf20_uc003byz.2_Silent_p.P468P|C3orf20_uc003bza.2_Silent_p.P468P|C3orf20_uc003bzb.1_Silent_p.P91P	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	590						cytoplasm|integral to membrane				ovary(3)|skin(1)	4						GAACTCATCCCGAGCGGCTCC	0.453													T	14770025	C	T	14770025	2	4	39	1	0	0	0	0	0	0	0	1	2213	639	23	1		1	C3orf20	3	14770025	Silent	SNP	C	TCGA-BR-6706-01A-11D-1882-08	13354587	14770025	183252405	36	35394											
EOMES	8320	broad.mit.edu	37	chr3	27759036	27759036	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaactgatgtctagtttgTtggtcccaggttgctggaca	13	7	1	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr3:27759036T>G	uc003cdx.2	-	6	1586	c.1586A>C	c.(1585-1587)AAC>ACC	p.N529T	EOMES_uc003cdy.3_Missense_Mutation_p.N548T|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.N253T	NM_005442	NP_005433	O95936	EOMES_HUMAN	eomesodermin	529					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|breast(1)	4						GTCTAGTTTGTTGGTCCCAGG	0.542													G	27759036	T	G	27759036	3	3	39	1	0	0	0	0	1	0	0	0	5147	1725	60	5	478	5	EOMES	3	27759036	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	12989011	27759036	170263394	37	35395											
UBA7	7318	broad.mit.edu	37	chr3	49850964	49850964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggatcatgcagagtgaggCtgcccacacccatcagaacc	12	13	2	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr3:49850964C>T	uc003cxr.2	-	2	344	c.173G>A	c.(172-174)AGC>AAC	p.S58N		NM_003335	NP_003326	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	58	2 approximate repeats.|1-1.				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)		CAGAGTGAGGCTGCCCACACC	0.662													T	49850964	C	T	49850964	3	4	39	1	0	0	0	0	1	0	0	0	16830	797	28	2	2957	2	UBA7	3	49850964	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	22091928	49850964	148171466	38	35396											
HYAL2	8692	broad.mit.edu	37	chr3	50355620	50355620	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agactggtgaggtgggacccAgcccaggcctcgctggcacc	15	14	0	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr3:50355620A>G	uc003czu.2	-	4	1582	c.1362T>C	c.(1360-1362)GCT>GCC	p.A454A	HYAL2_uc003czx.2_Silent_p.A454A|HYAL2_uc003czv.2_Silent_p.A454A|HYAL2_uc003czw.2_Silent_p.A454A	NM_033158	NP_149348	Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2 precursor	454						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	GGTGGGACCCAGCCCAGGCCT	0.632													G	50355620	A	G	50355620	2	3	39	1	0	0	0	0	0	0	0	1	7464	175	7	3		3	HYAL2	3	50355620	Silent	SNP	A	TCGA-BR-6706-01A-11D-1882-08	504656	50355620	147666810	39	35397											
CACNA2D2	9254	broad.mit.edu	37	chr3	50416351	50416351	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaggggaggtacctttgTtggcacaggccatccactgc	14	12	0	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr3:50416351T>A	uc003daq.2	-	13	1372	c.1334A>T	c.(1333-1335)AAC>ATC	p.N445I	CACNA2D2_uc003dap.2_Missense_Mutation_p.N445I	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha	445	VWFA.|Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GGTACCTTTGTTGGCACAGGC	0.547													A	50416351	T	A	50416351	3	1	39	1	0	0	0	0	1	0	0	0	2549	1725	60	5	2232	5	CACNA2D2	3	50416351	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	60731	50416351	147606079	40	35398											
IQCF2	389123	broad.mit.edu	37	chr3	51897136	51897136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggtggcggatgacgctgtCgagggtgctggagaagaaac	18	7	0	3	rs147180778		TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr3:51897136C>T	uc003dbt.1	+	3	283	c.245C>T	c.(244-246)TCG>TTG	p.S82L	IQCF1_uc003dbq.3_Intron|IQCF2_uc003dbu.1_RNA	NM_203424	NP_982248	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	82											0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATGACGCTGTCGAGGGTGCTG	0.612													T	51897136	C	T	51897136	3	4	39	1	0	0	0	0	1	0	0	0	7808	893	31	1	255	1	IQCF2	3	51897136	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	1480785	51897136	146125294	41	35399											
LRTM1	57408	broad.mit.edu	37	chr3	54958865	54958865	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttatgttgtttgatgacaAatcaagctccctcagctgag	9	9	2	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr3:54958865A>C	uc003dhl.2	-	2	519	c.385T>G	c.(385-387)TTG>GTG	p.L129V	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	129	LRR 4.|Extracellular (Potential).					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TTTGATGACAAATCAAGCTCC	0.468													C	54958865	A	C	54958865	3	2	39	1	0	0	0	0	1	0	0	0	9044	11	1	5	660	5	LRTM1	3	54958865	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	3061729	54958865	143063565	42	35400											
ERC2	26059	broad.mit.edu	37	chr3	56183149	56183149	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgtttcgttccaatgaagcGatttttgtgtcctgttggta	10	6	0	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr3:56183149G>T	uc003dhr.1	-	5	1417	c.1161C>A	c.(1159-1161)ATC>ATA	p.I387I		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	387	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCAATGAAGCGATTTTTGTGT	0.328													T	56183149	G	T	56183149	2	4	39	1	0	0	0	0	0	0	0	1	5211	1048	37	5		5	ERC2	3	56183149	Silent	SNP	G	TCGA-BR-6706-01A-11D-1882-08	1224284	56183149	141839281	43	35401											
HTR1F	3355	broad.mit.edu	37	chr3	88040704	88040704	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atagcacagtgagaagtctcAggtctgaattcaagcatgag	11	7	3	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr3:88040704A>C	uc003dqr.2	+	2	963	c.805A>C	c.(805-807)AGG>CGG	p.R269R		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	269	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GAGAAGTCTCAGGTCTGAATT	0.403													C	88040704	A	C	88040704	2	2	39	1	0	0	0	0	0	0	0	1	7440	179	7	5		5	HTR1F	3	88040704	Silent	SNP	A	TCGA-BR-6706-01A-11D-1882-08	31857555	88040704	109981726	44	35402											
ABI3BP	25890	broad.mit.edu	37	chr3	100595361	100595361	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcagacaaattaccttgcTtgatgattgttattgggatt	10	5	0	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr3:100595361T>C	uc003dun.2	-	7	846	c.761A>G	c.(760-762)AAG>AGG	p.K254R	ABI3BP_uc003duo.2_Missense_Mutation_p.K247R|ABI3BP_uc003dup.3_Missense_Mutation_p.K247R	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	254						extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						ATTACCTTGCTTGATGATTGT	0.343													C	100595361	T	C	100595361	3	2	39	1	0	0	0	0	1	0	0	0	91	1609	56	3	2582	3	ABI3BP	3	100595361	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	12554657	100595361	97427069	45	35403											
XRN1	54464	broad.mit.edu	37	chr3	142048335	142048335	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaacaagggaacaaattcGagaaagttcagttactggtg	10	7	1	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr3:142048335G>A	uc003eus.2	-	37	4409	c.4342C>T	c.(4342-4344)CGA>TGA	p.R1448*	XRN1_uc010huu.2_Nonsense_Mutation_p.R915*|XRN1_uc003eut.2_Nonsense_Mutation_p.R1448*|XRN1_uc003euu.2_Nonsense_Mutation_p.R1449*	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	1448					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						GAACAAATTCGAGAAAGTTCA	0.403													A	142048335	G	A	142048335	4	1	39	1	0	0	0	0	0	1	0	0	17456	1066	37	1	802	1	XRN1	3	142048335	Nonsense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	41452974	142048335	55974095	46	35404											
PLOD2	5352	broad.mit.edu	37	chr3	145803056	145803056	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttcatcctgacggcaaaAgtccctaacagtgaaaaaga	7	10	1	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr3:145803056A>G	uc003evs.1	-	11	1638	c.1132T>C	c.(1132-1134)TTT>CTT	p.F378L	PLOD2_uc003evq.1_Missense_Mutation_p.F38L|PLOD2_uc011bnm.1_Missense_Mutation_p.F323L|PLOD2_uc003evr.1_Missense_Mutation_p.F378L	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	378					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)	TGACGGCAAAAGTCCCTAACA	0.294													G	145803056	A	G	145803056	3	3	39	1	0	0	0	0	1	0	0	0	12102	72	3	3	1184	3	PLOD2	3	145803056	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	3754721	145803056	52219374	47	35405											
GPR87	53836	broad.mit.edu	37	chr3	151012123	151012123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccaggcaaacattacacGcagacaagaaaagtgtaatt	8	8	0	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr3:151012123G>A	uc003eyt.2	-	3	1272	c.911C>T	c.(910-912)GCG>GTG	p.A304V	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	304	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AACATTACACGCAGACAAGAA	0.338													A	151012123	G	A	151012123	3	1	39	1	0	0	0	0	1	0	0	0	6716	1087	38	1	169	1	GPR87	3	151012123	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	5209067	151012123	47010307	48	35406											
SGEF	26084	broad.mit.edu	37	chr3	153847381	153847381	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaaatgctgtcctgtatcAaaactacaaggaaaaggccc	8	9	1	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr3:153847381A>G	uc011bog.1	+	4	1353	c.1142A>G	c.(1141-1143)CAA>CGA	p.Q381R	SGEF_uc011boh.1_Missense_Mutation_p.Q381R	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	Src homology 3 domain-containing guanine	381					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GTCCTGTATCAAAACTACAAG	0.363													G	153847381	A	G	153847381	3	3	39	1	0	0	0	0	1	0	0	0	14205	130	5	3	1152	3	SGEF	3	153847381	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	2835258	153847381	44175049	49	35407											
PIK3CA	5290	broad.mit.edu	37	chr3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggccagtacctcatggattaGaagatttgctgaaccctatt	9	9	1	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr3:178928079G>A	uc003fjk.2	+	8	1514	c.1357G>A	c.(1357-1359)GAA>AAA	p.E453K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(5)|p.E453Q(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)|p.E453del(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCATGGATTAGAAGATTTGCT	0.348		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178928079	G	A	178928079	3	1	39	1	0	0	0	0	1	0	0	0	11913	943	33	4	1383	4	PIK3CA	3	178928079	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	25080698	178928079	19094351	50	35408											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936091	G	A	178936091	3	1	39	1	0	0	0	0	1	0	0	0	11913	1291	45	4	1667	4	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	8012	178936091	19086339	51	35409											
CCDC39	339829	broad.mit.edu	37	chr3	180372680	180372680	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatctcactttccaaaaacTtgatcttttctttaaccaaa	1	11	3	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr3:180372680T>C	uc010hxe.2	-	7	915	c.800A>G	c.(799-801)AAG>AGG	p.K267R	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	267	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTCCAAAAACTTGATCTTTTC	0.308													C	180372680	T	C	180372680	3	2	39	1	0	0	0	0	1	0	0	0	2811	1609	56	3	2081	3	CCDC39	3	180372680	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	1436589	180372680	17649750	52	35410											
CCDC39	339829	broad.mit.edu	37	chr3	180377341	180377341	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcattatgaatcttacgaaAatcttgtgctgctttatcca	5	8	3	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr3:180377341A>C	uc010hxe.2	-	6	752	c.637T>G	c.(637-639)TTT>GTT	p.F213V	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	213	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATCTTACGAAAATCTTGTGCT	0.343													C	180377341	A	C	180377341	3	2	39	1	0	0	0	0	1	0	0	0	2811	14	1	5	2248	5	CCDC39	3	180377341	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	4661	180377341	17645089	53	35411											
ZDHHC19	131540	broad.mit.edu	37	chr3	195938172	195938172	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccagcggcgtggcatcCgttaagagtgtcatggctgg	14	10	2	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr3:195938172C>T	uc003fwc.2	-	1	129	c.15G>A	c.(13-15)ACG>ACA	p.T5T	ZDHHC19_uc010hzz.2_RNA|ZDHHC19_uc010iaa.2_RNA|ZDHHC19_uc010iab.2_RNA	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC domain containing 19	5						integral to membrane	acyltransferase activity|zinc ion binding			ovary(3)	3	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GCGTGGCATCCGTTAAGAGTG	0.647													T	195938172	C	T	195938172	2	4	39	1	0	0	0	0	0	0	0	1	17606	639	23	1		1	ZDHHC19	3	195938172	Silent	SNP	C	TCGA-BR-6706-01A-11D-1882-08	15560831	195938172	2084258	54	35412											
EVC2	132884	broad.mit.edu	37	chr4	5620291	5620291	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattgctgcagcagaactcGggcccggatcttggggaggg	16	9	1	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr4:5620291G>A	uc003gij.2	-	15	2674	c.2620C>T	c.(2620-2622)CGA>TGA	p.R874*	EVC2_uc011bwb.1_Nonsense_Mutation_p.R314*|EVC2_uc003gik.2_Nonsense_Mutation_p.R794*	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	874						integral to membrane				large_intestine(3)|ovary(2)	5						AGCAGAACTCGGGCCCGGATC	0.607													A	5620291	G	A	5620291	4	1	39	1	0	0	0	0	0	1	0	0	5286	1124	39	1	1338	1	EVC2	4	5620291	Nonsense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08		5620291	185533985	55	35413											
DRD5	1816	broad.mit.edu	37	chr4	9784832	9784832	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgaacatcagcaatgagctCatctcctacaaccaagacat	6	12	3	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr4:9784832C>T	uc003gmb.3	+	1	1575	c.1179C>T	c.(1177-1179)CTC>CTT	p.L393L		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	393	Cytoplasmic (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GCAATGAGCTCATCTCCTACA	0.582													T	9784832	C	T	9784832	2	4	39	1	0	0	0	0	0	0	0	1	4760	813	29	4		4	DRD5	4	9784832	Silent	SNP	C	TCGA-BR-6706-01A-11D-1882-08	4164541	9784832	181369444	56	35414											
GBA3	57733	broad.mit.edu	37	chr4	22820403	22820403	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catggtctcttctggataacTttgagtggaaccagggatac	11	8	2	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr4:22820403T>G	uc003gqp.3	+	5	1358	c.1267T>G	c.(1267-1269)TTT>GTT	p.F423V	GBA3_uc010iep.2_Missense_Mutation_p.F116V|GBA3_uc011bxo.1_Missense_Mutation_p.F424V	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	423					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0						TCTGGATAACTTTGAGTGGAA	0.413													G	22820403	T	G	22820403	3	3	39	1	0	0	0	0	1	0	0	0	6268	1609	56	5	1285	5	GBA3	4	22820403	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	13035571	22820403	168333873	57	35415											
PPARGC1A	10891	broad.mit.edu	37	chr4	23814390	23814390	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattgccttctgcctctgccTctccctttgcttggccctct	6	17	4	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr4:23814390T>C	uc003gqs.2	-	10	2119	c.1999A>G	c.(1999-2001)AGG>GGG	p.R667G	PPARGC1A_uc003gqt.2_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	667					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				TGCCTCTGCCTCTCCCTTTGC	0.448													C	23814390	T	C	23814390	3	2	39	1	0	0	0	0	1	0	0	0	12300	1550	54	3	413	3	PPARGC1A	4	23814390	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	993987	23814390	167339886	58	35416											
PTPN13	5783	broad.mit.edu	37	chr4	87724935	87724935	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccctctggtaaatacacGggtgccaacttaaaatcagt	7	11	2	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr4:87724935G>A	uc003hpz.2	+	43	7059	c.6579G>A	c.(6577-6579)ACG>ACA	p.T2193T	PTPN13_uc003hpy.2_Silent_p.T2198T|PTPN13_uc003hqa.2_Silent_p.T2174T|PTPN13_uc003hqb.2_Silent_p.T2002T|PTPN13_uc003hqc.1_Silent_p.T559T	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	2193						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GTAAATACACGGGTGCCAACT	0.448													A	87724935	G	A	87724935	2	1	39	1	0	0	0	0	0	0	0	1	12782	1103	39	1		1	PTPN13	4	87724935	Silent	SNP	G	TCGA-BR-6706-01A-11D-1882-08	63910545	87724935	103429341	59	35417											
DDIT4L	115265	broad.mit.edu	37	chr4	101109157	101109157	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggacatcttgagcaattcTctgggtcagtttctcaggga	11	9	4	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr4:101109157T>C	uc003hvq.2	-	3	462	c.259A>G	c.(259-261)AGA>GGA	p.R87G		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	87					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		TGAGCAATTCTCTGGGTCAGT	0.443													C	101109157	T	C	101109157	3	2	39	1	0	0	0	0	1	0	0	0	4332	1559	54	3	326	3	DDIT4L	4	101109157	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	13384222	101109157	90045119	60	35418											
ANK2	287	broad.mit.edu	37	chr4	114278657	114278657	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactcttctgaagtgtattcTgttaccatcacatcccctgt	5	13	4	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr4:114278657T>C	uc003ibe.3	+	38	8983	c.8883T>C	c.(8881-8883)TCT>TCC	p.S2961S	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Silent_p.S263S|ANK2_uc011cgb.1_Silent_p.S2976S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2928					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)		AAGTGTATTCTGTTACCATCA	0.393													C	114278657	T	C	114278657	2	2	39	1	0	0	0	0	0	0	0	1	621	1567	55	3		3	ANK2	4	114278657	Silent	SNP	T	TCGA-BR-6706-01A-11D-1882-08	13169500	114278657	76875619	61	35419											
NDST4	64579	broad.mit.edu	37	chr4	115997948	115997948	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtattggctctccacgaagAgaaggacagtagggtccgtt	13	8	1	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr4:115997948A>T	uc003ibu.2	-	2	924	c.245T>A	c.(244-246)CTC>CAC	p.L82H	NDST4_uc010imw.2_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	82	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CTCCACGAAGAGAAGGACAGT	0.438													T	115997948	A	T	115997948	3	4	39	1	0	0	0	0	1	0	0	0	10258	304	11	5	2425	5	NDST4	4	115997948	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	1719291	115997948	75156328	62	35420											
FAT4	79633	broad.mit.edu	37	chr4	126371322	126371322	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcctccctgatttctgacTtgaaccaaaacttttttatc	3	12	1	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr4:126371322T>G	uc003ifj.3	+	9	9151	c.9151T>G	c.(9151-9153)TTG>GTG	p.L3051V	FAT4_uc011cgp.1_Missense_Mutation_p.L1349V|FAT4_uc003ifi.1_Missense_Mutation_p.L529V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3051	Extracellular (Potential).|Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GATTTCTGACTTGAACCAAAA	0.383													G	126371322	T	G	126371322	3	3	39	1	0	0	0	0	1	0	0	0	5692	1606	56	5	9185	5	FAT4	4	126371322	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	10373374	126371322	64782954	63	35421											
DCLK2	166614	broad.mit.edu	37	chr4	151023936	151023936	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actagactcaggagtcgtcaAgaggctctgcaccctggatg	12	11	3	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr4:151023936A>G	uc003ilm.3	+	2	828	c.728A>G	c.(727-729)AAG>AGG	p.K243R	DCLK2_uc003iln.3_Missense_Mutation_p.K243R|DCLK2_uc003ilo.3_Missense_Mutation_p.K243R|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	243	Doublecortin 2.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					GGAGTCGTCAAGAGGCTCTGC	0.463													G	151023936	A	G	151023936	3	3	39	1	0	0	0	0	1	0	0	0	4292	72	3	3	734	3	DCLK2	4	151023936	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	24652614	151023936	40130340	64	35422											
RBM46	166863	broad.mit.edu	37	chr4	155720526	155720526	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggattattactgcaacaaAaataactgggcaccaccaga	7	9	0	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr4:155720526A>C	uc003ioo.2	+	4	1385	c.1212A>C	c.(1210-1212)AAA>AAC	p.K404N	RBM46_uc011cim.1_Missense_Mutation_p.K404N|RBM46_uc003iop.1_Missense_Mutation_p.K404N	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	404							nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				ACTGCAACAAAAATAACTGGG	0.313													C	155720526	A	C	155720526	3	2	39	1	0	0	0	0	1	0	0	0	13140	11	1	5	1222	5	RBM46	4	155720526	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	4696590	155720526	35433750	65	35423											
GUCY1A3	2982	broad.mit.edu	37	chr4	156634503	156634503	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagccctggaggaggagaAgaaaaagacagtagaccttc	12	9	0	4			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr4:156634503A>C	uc003iov.2	+	8	1876	c.1340A>C	c.(1339-1341)AAG>ACG	p.K447T	GUCY1A3_uc010iqc.2_Missense_Mutation_p.K447T|GUCY1A3_uc003iow.2_Missense_Mutation_p.K447T|GUCY1A3_uc010iqd.2_Missense_Mutation_p.K446T|GUCY1A3_uc003iox.2_Missense_Mutation_p.K447T|GUCY1A3_uc003ioz.2_Missense_Mutation_p.K212T|GUCY1A3_uc003ioy.2_Missense_Mutation_p.K447T|GUCY1A3_uc010iqe.2_Missense_Mutation_p.K212T|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.K447T	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	447					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GAGGAGGAGAAGAAAAAGACA	0.522													C	156634503	A	C	156634503	3	2	39	1	0	0	0	0	1	0	0	0	6894	72	3	5	1373	5	GUCY1A3	4	156634503	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	913977	156634503	34519773	66	35424											
TDO2	6999	broad.mit.edu	37	chr4	156831278	156831278	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagagtcccttataacagaaGacattatcgtgataacttca	7	8	1	4			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr4:156831278G>T	uc003ipf.1	+	6	597	c.533G>T	c.(532-534)AGA>ATA	p.R178I		NM_005651	NP_005642	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	178					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	TATAACAGAAGACATTATCGT	0.383													T	156831278	G	T	156831278	3	4	39	1	0	0	0	0	1	0	0	0	15724	942	33	5	555	5	TDO2	4	156831278	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	196775	156831278	34322998	67	35425											
FNIP2	57600	broad.mit.edu	37	chr4	159790449	159790449	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggactgaaggagacatTccccgaaatgaaagctcaga	10	9	2	4			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr4:159790449T>C	uc003iqe.3	+	13	2844	c.2661T>C	c.(2659-2661)ATT>ATC	p.I887I		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	887	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AAGGAGACATTCCCCGAAATG	0.597													C	159790449	T	C	159790449	2	2	39	1	0	0	0	0	0	0	0	1	5976	1771	62	3		3	FNIP2	4	159790449	Silent	SNP	T	TCGA-BR-6706-01A-11D-1882-08	2959171	159790449	31363827	68	35426											
CCDC111	201973	broad.mit.edu	37	chr4	185593358	185593358	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaattttgcagcctgcTcttgacttgcttggcagtga	10	8	1	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr4:185593358T>G	uc003iwk.2	+	7	1021	c.588T>G	c.(586-588)GCT>GCG	p.A196A	CCDC111_uc010isd.1_RNA|CCDC111_uc003iwj.2_Silent_p.A196A|CCDC111_uc003iwl.2_Silent_p.A196A|CCDC111_uc003iwm.2_Silent_p.A67A|CCDC111_uc003iwn.2_Silent_p.A21A	NM_152683	NP_689896	Q96LW4	CC111_HUMAN	coiled-coil domain containing 111	196					DNA replication, synthesis of RNA primer		DNA primase activity			central_nervous_system(1)	1		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		TGCAGCCTGCTCTTGACTTGC	0.428													G	185593358	T	G	185593358	2	3	39	1	0	0	0	0	0	0	0	1	2748	1538	54	5		5	CCDC111	4	185593358	Silent	SNP	T	TCGA-BR-6706-01A-11D-1882-08	25802909	185593358	5560918	69	35427											
CCDC110	256309	broad.mit.edu	37	chr4	186379713	186379713	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcattttttatttcttgcagAaaattctcttcggcagtaga	7	7	2	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr4:186379713A>G	uc003ixu.3	-	6	2104	c.2028T>C	c.(2026-2028)TTT>TTC	p.F676F	CCDC110_uc003ixv.3_Silent_p.F639F|CCDC110_uc011ckt.1_Silent_p.F676F	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	676	Potential.					nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTCTTGCAGAAAATTCTCTT	0.323													G	186379713	A	G	186379713	2	3	39	1	0	0	0	0	0	0	0	1	2747	243	9	3		3	CCDC110	4	186379713	Silent	SNP	A	TCGA-BR-6706-01A-11D-1882-08	786355	186379713	4774563	70	35428											
ZFR	51663	broad.mit.edu	37	chr5	32400164	32400164	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcactctgtaaagcagcaAgagatgcaggtgtgactggt	12	8	2	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr5:32400164A>G	uc003jhr.1	-	9	1741	c.1661T>C	c.(1660-1662)CTT>CCT	p.L554P		NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	554					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)		TAAAGCAGCAAGAGATGCAGG	0.433													G	32400164	A	G	32400164	3	3	39	1	0	0	0	0	1	0	0	0	17656	72	3	3	1611	3	ZFR	5	32400164	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08		32400164	148515096	71	35429											
SLC45A2	51151	broad.mit.edu	37	chr5	33982444	33982444	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgaagtcggcagcaaaAtcaaagagaacgacacctat	8	9	2	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr5:33982444A>C	uc003jid.2	-	2	551	c.459T>G	c.(457-459)GAT>GAG	p.D153E	SLC45A2_uc003jie.2_Missense_Mutation_p.D153E|SLC45A2_uc003jif.3_Missense_Mutation_p.D153E|SLC45A2_uc011coe.1_Missense_Mutation_p.D153E	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	153	Helical; Name=4; (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						CGGCAGCAAAATCAAAGAGAA	0.463													C	33982444	A	C	33982444	3	2	39	1	0	0	0	0	1	0	0	0	14641	98	4	5	1172	5	SLC45A2	5	33982444	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	1582280	33982444	146932816	72	35430											
UGT3A1	133688	broad.mit.edu	37	chr5	35991320	35991320	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaggaaggccactagaAgcagcacccgctgcccaacc	10	14	0	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr5:35991320A>C	uc003jjv.1	-	1	180	c.23T>G	c.(22-24)CTT>CGT	p.L8R	UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.L8R|UGT3A1_uc011cor.1_Missense_Mutation_p.L8R|UGT3A1_uc003jjy.1_Intron	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	8						integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCCACTAGAAGCAGCACCCG	0.602													C	35991320	A	C	35991320	3	2	39	1	0	0	0	0	1	0	0	0	16960	72	3	5	1658	5	UGT3A1	5	35991320	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	2008876	35991320	144923940	73	35431											
GHR	2690	broad.mit.edu	37	chr5	42718874	42718874	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggttaaaaggggaagcagAtctcttatgccttgaccaga	12	7	1	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr5:42718874A>G	uc003jmt.2	+	10	1308	c.1265A>G	c.(1264-1266)GAT>GGT	p.D422G	GHR_uc011cpq.1_Missense_Mutation_p.D235G	NM_000163	NP_000154	P10912	GHR_HUMAN	growth hormone receptor precursor	422	Cytoplasmic (Potential).				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			lung(4)|kidney(1)|skin(1)	6		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GGGGAAGCAGATCTCTTATGC	0.443													G	42718874	A	G	42718874	3	3	39	1	0	0	0	0	1	0	0	0	6371	333	12	3	1299	3	GHR	5	42718874	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	6727554	42718874	138196386	74	35432											
DDX4	54514	broad.mit.edu	37	chr5	55088488	55088488	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gattggtctcaaacagatcaAatacttagttttggatgaag	9	5	2	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr5:55088488A>C	uc003jqg.3	+	17	1396	c.1322A>C	c.(1321-1323)AAA>ACA	p.K441T	DDX4_uc010ivz.2_Missense_Mutation_p.K421T|DDX4_uc003jqh.3_Missense_Mutation_p.K407T|DDX4_uc003jqj.2_Missense_Mutation_p.K292T	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform	441	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|skin(1)	2		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				AAACAGATCAAATACTTAGTT	0.328													C	55088488	A	C	55088488	3	2	39	1	0	0	0	0	1	0	0	0	4360	14	1	5	1425	5	DDX4	5	55088488	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	12369614	55088488	125826772	75	35433											
GPR98	84059	broad.mit.edu	37	chr5	89990213	89990213	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctctccttgaagttcaccTcatgaacatttcagccagtt	5	12	4	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr5:89990213T>G	uc003kju.2	+	33	7736	c.7640T>G	c.(7639-7641)CTC>CGC	p.L2547R	GPR98_uc003kjt.2_Missense_Mutation_p.L253R|GPR98_uc003kjv.2_Missense_Mutation_p.L147R	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2547	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAAGTTCACCTCATGAACATT	0.398													G	89990213	T	G	89990213	3	3	39	1	0	0	0	0	1	0	0	0	6721	1551	54	5	7770	5	GPR98	5	89990213	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	34901725	89990213	90925047	76	35434											
PAM	5066	broad.mit.edu	37	chr5	102295728	102295728	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacattccaattcccgtgaAgtctgatatggttatgatgc	8	9	1	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr5:102295728A>G	uc003knw.2	+	12	1428	c.1055A>G	c.(1054-1056)AAG>AGG	p.K352R	PAM_uc003kns.2_Missense_Mutation_p.K352R|PAM_uc003knt.2_Missense_Mutation_p.K352R|PAM_uc003knu.2_Missense_Mutation_p.K352R|PAM_uc003knv.2_Missense_Mutation_p.K352R|PAM_uc011cuz.1_Missense_Mutation_p.K255R|PAM_uc003knx.1_Missense_Mutation_p.K44R	NM_000919	NP_000910	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	352	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).|Intragranular (Potential).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding				0		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	ATTCCCGTGAAGTCTGATATG	0.338													G	102295728	A	G	102295728	3	3	39	1	0	0	0	0	1	0	0	0	11412	72	3	3	1101	3	PAM	5	102295728	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	12305515	102295728	78619532	77	35435											
FBN2	2201	broad.mit.edu	37	chr5	127855063	127855063	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catccattttcacagacagcTgcatacaaaaatagcaagaa	5	10	1	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr5:127855063T>G	uc003kuu.2	-	5	972	c.533_splice	c.e5-1	p.P178_splice	FBN2_uc003kuv.2_Splice_Site_p.P145_splice|FBN2_uc003kuw.3_Splice_Site_p.P178_splice|FBN2_uc003kux.1_Splice_Site_p.P178_splice	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor						bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACAGACAGCTGCATACAAAA	0.423													G	127855063	T	G	127855063	5	3	39	1	0	0	0	0	0	0	1	0	5703	1594	55	5	8451	5	FBN2	5	127855063	Splice_Site	SNP	T	TCGA-BR-6706-01A-11D-1882-08	25559335	127855063	53060197	78	35436											
MYOT	9499	broad.mit.edu	37	chr5	137222974	137222974	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attcagcaaatatttagcacTtaatgggaaaggtttgaatg	9	4	1	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr5:137222974T>A	uc011cye.1	+	10	1414	c.1397T>A	c.(1396-1398)CTT>CAT	p.L466H	PKD2L2_uc010jep.1_5'Flank|PKD2L2_uc003lbw.1_5'Flank|PKD2L2_uc003lbx.2_5'Flank|PKD2L2_uc003lby.2_5'Flank|MYOT_uc003lbv.2_Missense_Mutation_p.L466H|MYOT_uc011cyg.1_Missense_Mutation_p.L282H|MYOT_uc011cyh.1_Missense_Mutation_p.L351H	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	myotilin isoform b	466	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TATTTAGCACTTAATGGGAAA	0.388													A	137222974	T	A	137222974	3	1	39	1	0	0	0	0	1	0	0	0	10094	1609	56	5	1431	5	MYOT	5	137222974	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	9367911	137222974	43692286	79	35437											
PCDHAC2	56134	broad.mit.edu	37	chr5	140347619	140347619	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactcctatacactggtggTgagcggcccactggaccgag	12	12	0	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr5:140347619T>G	uc003lii.2	+	1	1508	c.1268T>G	c.(1267-1269)GTG>GGG	p.V423G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.V423G	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	423	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACTGGTGGTGAGCGGCCCA	0.577													G	140347619	T	G	140347619	3	3	39	1	0	0	0	0	1	0	0	0	11533	1696	59	5	1270	5	PCDHAC2	5	140347619	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	3124645	140347619	40567641	80	35438											
SH3TC2	79628	broad.mit.edu	37	chr5	148389903	148389903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcacctgcttcttcataaAgtttgagagccagcaaaggc	8	11	3	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr5:148389903A>G	uc003lpu.2	-	14	3409	c.3257T>C	c.(3256-3258)CTT>CCT	p.L1086P	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.L730P|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.L633P|SH3TC2_uc010jgx.2_Missense_Mutation_p.L1079P	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1086	TPR 5.						binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTTCATAAAGTTTGAGAGC	0.532													G	148389903	A	G	148389903	3	3	39	1	0	0	0	0	1	0	0	0	14262	72	3	3	625	3	SH3TC2	5	148389903	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	8042284	148389903	32525357	81	35439											
ANXA6	309	broad.mit.edu	37	chr5	150515865	150515865	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtggccagaggtgtcgccGatgatgtcagcctccaggtc	14	11	1	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr5:150515865G>A	uc003ltl.1	-	7	593	c.441C>T	c.(439-441)ATC>ATT	p.I147I	ANXA6_uc011dcp.1_Silent_p.I115I|ANXA6_uc003ltm.1_Silent_p.I147I|ANXA6_uc003ltn.1_Intron|ANXA6_uc003lto.1_Intron	NM_001155	NP_001146	P08133	ANXA6_HUMAN	annexin VI isoform 1	147	Annexin 2.					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding				0		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTGTCGCCGATGATGTCAG	0.547													A	150515865	G	A	150515865	2	1	39	1	0	0	0	0	0	0	0	1	722	1048	37	1		1	ANXA6	5	150515865	Silent	SNP	G	TCGA-BR-6706-01A-11D-1882-08	2125962	150515865	30399395	82	35440											
FAT2	2196	broad.mit.edu	37	chr5	150908754	150908754	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttaccgtgaggatgacgtcAcccacaagggcattctctaa	9	12	2	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr5:150908754A>G	uc003lue.3	-	14	10024	c.10011T>C	c.(10009-10011)GGT>GGC	p.G3337G	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Silent_p.G30G	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3337	Cadherin 30.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGATGACGTCACCCACAAGGG	0.517													G	150908754	A	G	150908754	2	3	39	1	0	0	0	0	0	0	0	1	5690	146	6	3		3	FAT2	5	150908754	Silent	SNP	A	TCGA-BR-6706-01A-11D-1882-08	392889	150908754	30006506	83	35441											
IL12B	3593	broad.mit.edu	37	chr5	158743698	158743698	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgagggcctgctcacctaacTgcagggcacagatgcccatt	11	13	1	2	rs143277765		TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr5:158743698T>A	uc003lxr.1	-	7	1024	c.982A>T	c.(982-984)AGT>TGT	p.S328C		NM_002187	NP_002178	P29460	IL12B_HUMAN	interleukin 12B precursor	328					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCACCTAACTGCAGGGCACA	0.592											OREG0016989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	158743698	T	A	158743698	3	1	39	1	0	0	0	0	1	0	0	0	7625	1580	55	5	8	5	IL12B	5	158743698	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	7834944	158743698	22171562	84	35442											
WWC1	23286	broad.mit.edu	37	chr5	167824784	167824784	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgagatcctgaaagctgaAattgccactgcaaaatcccg	8	12	0	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr5:167824784A>C	uc003lzu.2	+	4	582	c.489A>C	c.(487-489)GAA>GAC	p.E163D	WWC1_uc003lzv.2_Missense_Mutation_p.E163D|WWC1_uc011den.1_Missense_Mutation_p.E163D	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	163	Potential.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TGAAAGCTGAAATTGCCACTG	0.468													C	167824784	A	C	167824784	3	2	39	1	0	0	0	0	1	0	0	0	17408	11	1	5	503	5	WWC1	5	167824784	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	9081086	167824784	13090476	85	35443											
FOXQ1	94234	broad.mit.edu	37	chr6	1313596	1313596	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaagcgcctcagccaccgCgcgccggtccccgcgcccgg	13	22	1	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr6:1313596C>T	uc003mtl.3	+	1	922	c.657C>T	c.(655-657)CGC>CGT	p.R219R		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	forkhead box Q1	219					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding				0	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		TCAGCCAccgcgcgccggtcc	0.343													T	1313596	C	T	1313596	2	4	39	1	0	0	0	0	0	0	0	1	6030	755	27	1		1	FOXQ1	6	1313596	Silent	SNP	C	TCGA-BR-6706-01A-11D-1882-08		1313596	169801471	86	35444											
IP6K3	117283	broad.mit.edu	37	chr6	33703132	33703132	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgggagacgaggggcTtgcacaccgtatgctcgtca	14	13	1	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr6:33703132T>C	uc010jvf.2	-	3	658	c.122A>G	c.(121-123)AAG>AGG	p.K41R	IP6K3_uc003ofb.2_Missense_Mutation_p.K41R	NM_001142883	NP_001136355	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	41					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity				0						GACGAGGGGCTTGCACACCGT	0.627													C	33703132	T	C	33703132	3	2	39	1	0	0	0	0	1	0	0	0	7790	1609	56	3	1130	3	IP6K3	6	33703132	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	32389536	33703132	137411935	87	35445											
UBR2	23304	broad.mit.edu	37	chr6	42612227	42612227	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataggatgttgttcagcagaAcaatactctaatagaagaaa	8	5	2	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr6:42612227A>C	uc011dur.1	+	20	2237	c.2237A>C	c.(2236-2238)AAC>ACC	p.N746T	UBR2_uc011dus.1_Missense_Mutation_p.N391T|UBR2_uc003osh.2_RNA	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	746					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GTTCAGCAGAACAATACTCTA	0.303													C	42612227	A	C	42612227	3	2	39	1	0	0	0	0	1	0	0	0	16899	43	2	5	2461	5	UBR2	6	42612227	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	8909095	42612227	128502840	88	35446											
DOPEY1	23033	broad.mit.edu	37	chr6	83845580	83845580	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacaagcatttcatgcaaaAttttgcctgcagcaatggtg	9	8	1	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr6:83845580A>C	uc003pjs.1	+	20	3373	c.3113A>C	c.(3112-3114)AAT>ACT	p.N1038T	DOPEY1_uc011dyy.1_Missense_Mutation_p.N1029T|DOPEY1_uc010kbl.1_Missense_Mutation_p.N1029T|DOPEY1_uc003pjt.2_5'Flank	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1038					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTCATGCAAAATTTTGCCTGC	0.358													C	83845580	A	C	83845580	3	2	39	1	0	0	0	0	1	0	0	0	4707	101	4	5	3183	5	DOPEY1	6	83845580	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	41233353	83845580	87269487	89	35447											
LAMA4	3910	broad.mit.edu	37	chr6	112471810	112471810	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccacacgcctgctagtgtcAgccactgcttcatcactgcc	7	18	3	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr6:112471810A>G	uc003pvu.2	-	17	2385	c.2076T>C	c.(2074-2076)GCT>GCC	p.A692A	LAMA4_uc003pvv.2_Silent_p.A685A|LAMA4_uc003pvt.2_Silent_p.A685A	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	692	Domain II and I.|Potential.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGCTAGTGTCAGCCACTGCTT	0.493													G	112471810	A	G	112471810	2	3	39	1	0	0	0	0	0	0	0	1	8608	175	7	3		3	LAMA4	6	112471810	Silent	SNP	A	TCGA-BR-6706-01A-11D-1882-08	28626230	112471810	58643257	90	35448											
C6orf170	221322	broad.mit.edu	37	chr6	121576500	121576500	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggattcctggcttactgaAgaaacagaatcagaaccctc	9	10	1	4			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr6:121576500A>G	uc003pyo.1	-	17	2060	c.1992T>C	c.(1990-1992)TCT>TCC	p.S664S	C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Silent_p.S183S	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	664					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		GGCTTACTGAAGAAACAGAAT	0.284													G	121576500	A	G	121576500	2	3	39	1	0	0	0	0	0	0	0	1	2344	59	3	3		3	C6orf170	6	121576500	Silent	SNP	A	TCGA-BR-6706-01A-11D-1882-08	9104690	121576500	49538567	91	35449											
SERINC1	57515	broad.mit.edu	37	chr6	122779730	122779730	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacacatactccaacaagcaAgaaaagtgcatagatcaatc	5	10	1	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr6:122779730A>G	uc003pyy.1	-	2	206	c.136T>C	c.(136-138)TTG>CTG	p.L46L		NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN	serine incorporator 1	46	Helical; (Potential).				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.126)		CCAACAAGCAAGAAAAGTGCA	0.408													G	122779730	A	G	122779730	2	3	39	1	0	0	0	0	0	0	0	1	14079	69	3	3		3	SERINC1	6	122779730	Silent	SNP	A	TCGA-BR-6706-01A-11D-1882-08	1203230	122779730	48335337	92	35450											
SHPRH	257218	broad.mit.edu	37	chr6	146254276	146254276	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacattcagttccacatttcTtctgcaaagatgtcagcagc	6	12	4	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr6:146254276T>G	uc003qlf.2	-	14	3428	c.3029A>C	c.(3028-3030)AAG>ACG	p.K1010T	SHPRH_uc003qld.2_Missense_Mutation_p.K1019T|SHPRH_uc003qle.2_Missense_Mutation_p.K1019T|SHPRH_uc003qlg.1_Missense_Mutation_p.K566T|SHPRH_uc003qlh.2_5'UTR	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	1010					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TCCACATTTCTTCTGCAAAGA	0.403													G	146254276	T	G	146254276	3	3	39	1	0	0	0	0	1	0	0	0	14291	1609	56	5	2107	5	SHPRH	6	146254276	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	23474546	146254276	24860791	93	35451											
THSD7A	221981	broad.mit.edu	37	chr7	11581104	11581104	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggaccacactcctttccGttatctggctcgcagtttcc	7	16	1	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr7:11581104G>A	uc003ssf.3	-	6	2016	c.1764C>T	c.(1762-1764)AAC>AAT	p.N588N		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	588	Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACTCCTTTCCGTTATCTGGCT	0.483										HNSCC(18;0.044)			A	11581104	G	A	11581104	2	1	39	1	0	0	0	0	0	0	0	1	15876	1136	40	1		1	THSD7A	7	11581104	Silent	SNP	G	TCGA-BR-6706-01A-11D-1882-08		11581104	147557559	94	35452											
AGR3	155465	broad.mit.edu	37	chr7	16900136	16900136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atacttacataggggtaaatCccgaggctcatatgtgtaca	9	8	1	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr7:16900136C>T	uc003sts.2	-	7	512	c.439G>A	c.(439-441)GAT>AAT	p.D147N		NM_176813	NP_789783	Q8TD06	AGR3_HUMAN	breast cancer membrane protein 11 precursor	147						extracellular region					0	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		AGGGGTAAATCCCGAGGCTCA	0.423													T	16900136	C	T	16900136	3	4	39	1	0	0	0	0	1	0	0	0	396	855	30	4	69	4	AGR3	7	16900136	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	5319032	16900136	142238527	95	35453											
ABCB5	340273	broad.mit.edu	37	chr7	20762765	20762765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtattgctccagtacttgccGtgacaggaatgattgaaacc	10	9	0	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr7:20762765G>A	uc003suw.3	+	12	1759	c.1213G>A	c.(1213-1215)GTG>ATG	p.V405M	ABCB5_uc010kuh.2_Missense_Mutation_p.V850M|ABCB5_uc003sux.1_Missense_Mutation_p.V28M	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	405	Cytoplasmic (Potential).|ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						AGTACTTGCCGTGACAGGAAT	0.393													A	20762765	G	A	20762765	3	1	39	1	0	0	0	0	1	0	0	0	44	1145	40	1	2667	1	ABCB5	7	20762765	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	3862629	20762765	138375898	96	35454											
KBTBD2	25948	broad.mit.edu	37	chr7	32909212	32909212	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctcatttaagtgggtttcTcgcataaacacacatagaga	8	9	2	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr7:32909212T>C	uc003tdb.2	-	4	2276	c.1617A>G	c.(1615-1617)CGA>CGG	p.R539R	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	539	Kelch 5.										0			GBM - Glioblastoma multiforme(11;0.0499)			AGTGGGTTTCTCGCATAAACA	0.453													C	32909212	T	C	32909212	2	2	39	1	0	0	0	0	0	0	0	1	7993	1538	54	3		3	KBTBD2	7	32909212	Silent	SNP	T	TCGA-BR-6706-01A-11D-1882-08	12146447	32909212	126229451	97	35455											
FKBP9	11328	broad.mit.edu	37	chr7	33014900	33014900	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctatttcaagcccccgagTtgccctcggaccatccaggt	8	16	1	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr7:33014900T>G	uc003tdh.2	+	3	655	c.474T>G	c.(472-474)AGT>AGG	p.S158R	AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Missense_Mutation_p.S211R|FKBP9_uc003tdg.2_Missense_Mutation_p.S158R|FKBP9_uc010kwm.2_Missense_Mutation_p.S65R	NM_007270	NP_009201	O95302	FKBP9_HUMAN	FK506 binding protein 9 precursor	158					protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|ovary(1)	14			GBM - Glioblastoma multiforme(11;0.0156)			AGCCCCCGAGTTGCCCTCGGA	0.478													G	33014900	T	G	33014900	3	3	39	1	0	0	0	0	1	0	0	0	5915	1722	60	5	484	5	FKBP9	7	33014900	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	105688	33014900	126123763	98	35456											
ASL	435	broad.mit.edu	37	chr7	65552354	65552354	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcaatcccctgggtgtggaCcgagagctgctccgagcagg	16	12	0	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr7:65552354C>G	uc003tuo.2	+	9	747	c.636C>G	c.(634-636)GAC>GAG	p.D212E	ASL_uc003tup.2_Missense_Mutation_p.D212E|ASL_uc003tur.2_Missense_Mutation_p.D186E|ASL_uc003tuq.2_Missense_Mutation_p.D212E	NM_000048	NP_000039	P04424	ARLY_HUMAN	argininosuccinate lyase isoform 1	212					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(2)	2					L-Arginine(DB00125)	TGGGTGTGGACCGAGAGCTGC	0.592													G	65552354	C	G	65552354	3	3	39	1	0	0	0	0	1	0	0	0	1044	506	18	5	666	5	ASL	7	65552354	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	32537454	65552354	93586309	99	35457											
PCLO	27445	broad.mit.edu	37	chr7	82583320	82583320	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttatctctgtaagcttccaAaacttccagaatgattccat	4	10	1	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr7:82583320A>G	uc003uhx.2	-	5	7238	c.6949T>C	c.(6949-6951)TTG>CTG	p.L2317L	PCLO_uc003uhv.2_Silent_p.L2317L|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2248					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TAAGCTTCCAAAACTTCCAGA	0.428													G	82583320	A	G	82583320	2	3	39	1	0	0	0	0	0	0	0	1	11583	11	1	3		3	PCLO	7	82583320	Silent	SNP	A	TCGA-BR-6706-01A-11D-1882-08	17030966	82583320	76555343	100	35458											
COL1A2	1278	broad.mit.edu	37	chr7	94041406	94041406	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctggttcccctggaaatatCggccccgctggaaaagaagg	12	12	0	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr7:94041406C>T	uc003ung.1	+	24	1848	c.1377C>T	c.(1375-1377)ATC>ATT	p.I459I	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	459					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTGGAAATATCGGCCCCGCTG	0.378										HNSCC(75;0.22)			T	94041406	C	T	94041406	2	4	39	1	0	0	0	0	0	0	0	1	3678	874	31	1		1	COL1A2	7	94041406	Silent	SNP	C	TCGA-BR-6706-01A-11D-1882-08	11458086	94041406	65097257	101	35459											
DLX6	1750	broad.mit.edu	37	chr7	96639182	96639182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtaatcctcatgagagCgaccccctccagggctcggc	12	15	1	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr7:96639182C>T	uc003uom.2	+	4	621	c.621C>T	c.(619-621)AGC>AGT	p.S207S	DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	distal-less homeobox 6	117					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CTCATGAGAGCGACCCCCTCC	0.567													T	96639182	C	T	96639182	2	4	39	1	0	0	0	0	0	0	0	1	4575	767	27	1		1	DLX6	7	96639182	Silent	SNP	C	TCGA-BR-6706-01A-11D-1882-08	2597776	96639182	62499481	102	35460											
ZNF789	285989	broad.mit.edu	37	chr7	99077375	99077375	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggacctctaccgagatgTgatgttggagaactacagga	13	7	1	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr7:99077375T>C	uc003uqq.1	+	3	335	c.116T>C	c.(115-117)GTG>GCG	p.V39A	ZNF789_uc003uqp.2_Missense_Mutation_p.V39A|ZNF789_uc010lfw.1_5'UTR	NM_213603	NP_998768	Q5FWF6	ZN789_HUMAN	zinc finger protein 789 isoform 1	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TACCGAGATGTGATGTTGGAG	0.488													C	99077375	T	C	99077375	3	2	39	1	0	0	0	0	1	0	0	0	18157	1696	59	3	122	3	ZNF789	7	99077375	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	2438193	99077375	60061288	103	35461											
MUC17	140453	broad.mit.edu	37	chr7	100675453	100675453	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgaccatttctgctcaAgccagttcatctcctacaac	5	15	4	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr7:100675453A>C	uc003uxp.1	+	3	809	c.756A>C	c.(754-756)CAA>CAC	p.Q252H	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	252	Extracellular (Potential).|59 X approximate tandem repeats.|2.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TTTCTGCTCAAGCCAGTTCAT	0.507													C	100675453	A	C	100675453	3	2	39	1	0	0	0	0	1	0	0	0	9974	69	3	5	766	5	MUC17	7	100675453	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	1598078	100675453	58463210	104	35462											
MUC17	140453	broad.mit.edu	37	chr7	100686766	100686766	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accagcagaggctgcactacTtctgcatcaacgctttctgc	8	14	3	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr7:100686766T>G	uc003uxp.1	+	3	12122	c.12069T>G	c.(12067-12069)ACT>ACG	p.T4023T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	4023	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTGCACTACTTCTGCATCAA	0.527													G	100686766	T	G	100686766	2	3	39	1	0	0	0	0	0	0	0	1	9974	1596	56	5		5	MUC17	7	100686766	Silent	SNP	T	TCGA-BR-6706-01A-11D-1882-08	11313	100686766	58451897	105	35463											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432071	117432071	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggggtgtgctactggttggAtctggtgttgagccagtgct	18	6	1	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr7:117432071A>G	uc003vjf.2	-	4	1271	c.1179T>C	c.(1177-1179)GAT>GAC	p.D393D		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	393	Pro-rich.									ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TACTGGTTGGATCTGGTGTTG	0.537													G	117432071	A	G	117432071	2	3	39	1	0	0	0	0	0	0	0	1	4045	330	12	3		3	CTTNBP2	7	117432071	Silent	SNP	A	TCGA-BR-6706-01A-11D-1882-08	16745305	117432071	41706592	106	35464											
TSPAN12	23554	broad.mit.edu	37	chr7	120446622	120446622	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcttgataaaggtcactgAgatcttcctggtgggcctgt	11	10	3	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr7:120446622A>G	uc003vjk.2	-	7	967	c.593T>C	c.(592-594)CTC>CCC	p.L198P	TSPAN12_uc010lkj.2_Missense_Mutation_p.L71P	NM_012338	NP_036470	O95859	TSN12_HUMAN	transmembrane 4 superfamily member 12	198	Extracellular (Potential).				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction					0	all_neural(327;0.117)					AAGGTCACTGAGATCTTCCTG	0.403													G	120446622	A	G	120446622	3	3	39	1	0	0	0	0	1	0	0	0	16633	304	11	3	332	3	TSPAN12	7	120446622	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	3014551	120446622	38692041	107	35465											
IQUB	154865	broad.mit.edu	37	chr7	123119949	123119949	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgagtctctttttccagaAgttcacacagagcagctttc	7	11	3	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr7:123119949A>G	uc003vkn.2	-	8	1887	c.1310T>C	c.(1309-1311)CTT>CCT	p.L437P	IQUB_uc003vko.2_Missense_Mutation_p.L437P|IQUB_uc010lkt.2_Intron|IQUB_uc003vkp.1_Missense_Mutation_p.L437P	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	437										ovary(3)|large_intestine(1)	4						TTTTTCCAGAAGTTCACACAG	0.393													G	123119949	A	G	123119949	3	3	39	1	0	0	0	0	1	0	0	0	7820	72	3	3	1089	3	IQUB	7	123119949	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	2673327	123119949	36018714	108	35466											
CNTNAP2	26047	broad.mit.edu	37	chr7	146825804	146825804	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gataacctttggaggcatccCtttctctggcaagcccagct	9	13	1	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr7:146825804C>A	uc003weu.1	+	7	1475	c.959C>A	c.(958-960)CCT>CAT	p.P320H		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	320	Laminin G-like 1.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGAGGCATCCCTTTCTCTGGC	0.398										HNSCC(39;0.1)			A	146825804	C	A	146825804	3	1	39	1	0	0	0	0	1	0	0	0	3647	681	24	5	985	5	CNTNAP2	7	146825804	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	23705855	146825804	12312859	109	35467											
CNTNAP2	26047	broad.mit.edu	37	chr7	147914383	147914383	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctcctttataacagatgTtggtgcattttttgaagaag	8	6	1	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr7:147914383T>G	uc003weu.1	+	19	3530	c.3014T>G	c.(3013-3015)GTT>GGT	p.V1005G		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	1005	Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATAACAGATGTTGGTGCATTT	0.478										HNSCC(39;0.1)			G	147914383	T	G	147914383	3	3	39	1	0	0	0	0	1	0	0	0	3647	1725	60	5	3088	5	CNTNAP2	7	147914383	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	1088579	147914383	11224280	110	35468											
CSMD1	64478	broad.mit.edu	37	chr8	2820827	2820827	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagagagctggtaaccgtccAtgcagctgtaacttatgctg	12	9	0	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr8:2820827A>T	uc011kwk.1	-	60	9764	c.9374T>A	c.(9373-9375)ATG>AAG	p.M3125K	CSMD1_uc011kwj.1_Missense_Mutation_p.M2454K|CSMD1_uc010lrg.2_Missense_Mutation_p.M1016K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3125	Sushi 25.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTAACCGTCCATGCAGCTGTA	0.572													T	2820827	A	T	2820827	3	4	39	1	0	0	0	0	1	0	0	0	3944	217	8	5	1367	5	CSMD1	8	2820827	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08		2820827	143543195	111	35469											
BLK	640	broad.mit.edu	37	chr8	11421550	11421550	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaggagcggcccaccttcgAgttcctgcagtcggtgctgg	15	13	0	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr8:11421550A>G	uc003wty.2	+	13	2032	c.1451A>G	c.(1450-1452)GAG>GGG	p.E484G	BLK_uc003wtz.2_Missense_Mutation_p.E413G|BLK_uc003wua.2_Missense_Mutation_p.E320G	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	484	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|stomach(1)|ovary(1)	3			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCCACCTTCGAGTTCCTGCAG	0.741													G	11421550	A	G	11421550	3	3	39	1	0	0	0	0	1	0	0	0	1444	304	11	3	1497	3	BLK	8	11421550	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	8600723	11421550	134942472	112	35470											
DEFB134	613211	broad.mit.edu	37	chr8	11851601	11851601	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccatttttatagcatttcTtgtgcatttctgatgataat	6	6	2	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr8:11851601T>C	uc011kxn.1	-	2	89	c.89A>G	c.(88-90)AAG>AGG	p.K30R		NM_001033019	NP_001028191	Q4QY38	DB134_HUMAN	beta-defensin 134 precursor	30					defense response to bacterium	extracellular region					0			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.159)		ATAGCATTTCTTGTGCATTTC	0.363													C	11851601	T	C	11851601	3	2	39	1	0	0	0	0	1	0	0	0	4418	1609	56	3	114	3	DEFB134	8	11851601	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	430051	11851601	134512421	113	35471											
MTUS1	57509	broad.mit.edu	37	chr8	17504590	17504590	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgctgtgttgttgtccaccTtggcataaacaagaattcca	8	9	0	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr8:17504590T>G	uc003wxv.2	-	14	3976	c.3502_splice	c.e14-1	p.V1168_splice	MTUS1_uc003wxt.2_Splice_Site_p.V415_splice|MTUS1_uc011kyg.1_Splice_Site_p.V313_splice|MTUS1_uc010lsy.2_Splice_Site|MTUS1_uc003wxw.2_Splice_Site_p.V1114_splice|MTUS1_uc003wxs.2_Splice_Site_p.V334_splice	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1							Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		GTTGTCCACCTTGGCATAAAC	0.284													G	17504590	T	G	17504590	5	3	39	1	0	0	0	0	0	0	1	0	9965	1623	56	5	320	5	MTUS1	8	17504590	Splice_Site	SNP	T	TCGA-BR-6706-01A-11D-1882-08	5652989	17504590	128859432	114	35472											
MCM4	4173	broad.mit.edu	37	chr8	48883436	48883436	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagactctgtccattgcaaaGgtgagtcgccttctccaccg	9	14	2	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr8:48883436G>A	uc003xqk.1	+	12	1895	c.1800G>A	c.(1798-1800)AAG>AAA	p.K600K	MCM4_uc003xql.1_Silent_p.K600K|MCM4_uc011ldi.1_Silent_p.K587K	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	600	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CCATTGCAAAGGTGAGTCGCC	0.463													A	48883436	G	A	48883436	2	1	39	1	0	0	0	0	0	0	0	1	9389	1014	35	4		4	MCM4	8	48883436	Silent	SNP	G	TCGA-BR-6706-01A-11D-1882-08	31378846	48883436	97480586	115	35473											
PREX2	80243	broad.mit.edu	37	chr8	68942747	68942747	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaggagttgctgaagcggActccacggaaacacagtgac	12	10	0	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr8:68942747A>G	uc003xxv.1	+	6	586	c.559A>G	c.(559-561)ACT>GCT	p.T187A	PREX2_uc003xxu.1_Missense_Mutation_p.T187A|PREX2_uc011lez.1_Missense_Mutation_p.T122A	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	187	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GCTGAAGCGGACTCCACGGAA	0.463													G	68942747	A	G	68942747	3	3	39	1	0	0	0	0	1	0	0	0	12477	275	10	3	581	3	PREX2	8	68942747	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	20059311	68942747	77421275	116	35474											
ZFHX4	79776	broad.mit.edu	37	chr8	77764117	77764117	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggatgttagattccatgAgtttagcagctgtaaacagc	12	6	0	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr8:77764117A>G	uc003yav.2	+	10	5212	c.4825A>G	c.(4825-4827)AGT>GGT	p.S1609G	ZFHX4_uc003yau.1_Missense_Mutation_p.S1654G|ZFHX4_uc003yaw.1_Missense_Mutation_p.S1609G	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1609						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGATTCCATGAGTTTAGCAGC	0.478										HNSCC(33;0.089)			G	77764117	A	G	77764117	3	3	39	1	0	0	0	0	1	0	0	0	17632	304	11	3	4994	3	ZFHX4	8	77764117	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	8821370	77764117	68599905	117	35475											
ZFPM2	23414	broad.mit.edu	37	chr8	106813442	106813442	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttccagactcagagggagTtattgcagcaccaggagctc	12	11	1	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr8:106813442T>G	uc003ymd.2	+	8	1155	c.1132T>G	c.(1132-1134)TTA>GTA	p.L378V	ZFPM2_uc011lhs.1_Missense_Mutation_p.L109V|uc003yme.1_5'Flank	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	378	C2H2-type 3.				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCAGAGGGAGTTATTGCAGCA	0.507													G	106813442	T	G	106813442	3	3	39	1	0	0	0	0	1	0	0	0	17655	1722	60	5	1162	5	ZFPM2	8	106813442	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	29049325	106813442	39550580	118	35476											
C8orf85	441376	broad.mit.edu	37	chr8	117954916	117954916	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagactcccaaagcccaaaAgatgatgctgcgaatccgga	9	12	1	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr8:117954916A>C	uc003yof.2	+	2	463	c.444A>C	c.(442-444)AAA>AAC	p.K148N		NM_001025357	NP_001020528	Q4LEZ3	AARD_HUMAN	alanine and arginine-rich domain-containing	148											0						AAAGCCCAAAAGATGATGCTG	0.303													C	117954916	A	C	117954916	3	2	39	1	0	0	0	0	1	0	0	0	2441	69	3	5	450	5	C8orf85	8	117954916	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	11141474	117954916	28409106	119	35477											
FER1L6	654463	broad.mit.edu	37	chr8	125082784	125082784	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgagctcttcagaggcaAgtctacggaagatgaccatg	11	8	3	4			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr8:125082784A>G	uc003yqw.2	+	30	4117	c.3911A>G	c.(3910-3912)AAG>AGG	p.K1304R	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1304	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTCAGAGGCAAGTCTACGGAA	0.408													G	125082784	A	G	125082784	3	3	39	1	0	0	0	0	1	0	0	0	5815	72	3	3	4025	3	FER1L6	8	125082784	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	7127868	125082784	21281238	120	35478											
GSDMC	56169	broad.mit.edu	37	chr8	130761760	130761760	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcaaatcgtgttggaAgtcactcagcactgagggtg	14	9	2	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr8:130761760A>C	uc003ysr.2	-	13	2107	c.1225T>G	c.(1225-1227)TTC>GTC	p.F409V		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	melanoma-derived leucine zipper, extra-nuclear	409						mitochondrion				ovary(2)|skin(1)	3						TCGTGTTGGAAGTCACTCAGC	0.527													C	130761760	A	C	130761760	3	2	39	1	0	0	0	0	1	0	0	0	6818	72	3	5	309	5	GSDMC	8	130761760	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	5678976	130761760	15602262	121	35479											
TG	7038	broad.mit.edu	37	chr8	133899716	133899716	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctgtccagtgcttcaActcagagtgctactgtgttg	10	12	2	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr8:133899716A>G	uc003ytw.2	+	9	2140	c.2099A>G	c.(2098-2100)AAC>AGC	p.N700S		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	700	Thyroglobulin type-1 6.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGTGCTTCAACTCAGAGTGC	0.522													G	133899716	A	G	133899716	3	3	39	1	0	0	0	0	1	0	0	0	15810	43	2	3	2133	3	TG	8	133899716	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	3137956	133899716	12464306	122	35480											
SMARCA2	6595	broad.mit.edu	37	chr9	2123719	2123719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcttattaatgtctccagCggatggacatggaccggcgg	12	11	2	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr9:2123719C>T	uc003zhc.2	+	27	3862	c.3763C>T	c.(3763-3765)CGG>TGG	p.R1255W	SMARCA2_uc003zhd.2_Missense_Mutation_p.R1255W|SMARCA2_uc010mha.2_Missense_Mutation_p.R1188W	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1255					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATGTCTCCAGCGGATGGACAT	0.542													T	2123719	C	T	2123719	3	4	39	1	0	0	0	0	1	0	0	0	14769	782	27	1	3865	1	SMARCA2	9	2123719	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08		2123719	139089712	123	35481											
JAK2	3717	broad.mit.edu	37	chr9	5077540	5077540	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tataaatatattatggaaacTtgaagttgctaaacagttgg	8	3	0	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr9:5077540T>G	uc010mhm.2	+	14	2065	c.1952T>G	c.(1951-1953)CTT>CGT	p.L651R	JAK2_uc003ziw.2_Missense_Mutation_p.L651R	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	651	Protein kinase 1.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TTATGGAAACTTGAAGTTGCT	0.259		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				G	5077540	T	G	5077540	3	3	39	1	0	0	0	0	1	0	0	0	7938	1609	56	5	2002	5	JAK2	9	5077540	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	2953821	5077540	136135891	124	35482											
IL33	90865	broad.mit.edu	37	chr9	6255985	6255985	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctccataagtgtgaaaaAccactgccagaccaggcctt	8	13	0	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr9:6255985A>C	uc003zjt.2	+	8	687	c.630A>C	c.(628-630)AAA>AAC	p.K210N	IL33_uc011lmg.1_Missense_Mutation_p.K168N|IL33_uc011lmh.1_Missense_Mutation_p.K84N|IL33_uc003zju.1_Missense_Mutation_p.K210N	NM_033439	NP_254274	O95760	IL33_HUMAN	interleukin 33 precursor	210					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity				0		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		AGTGTGAAAAACCACTGCCAG	0.418													C	6255985	A	C	6255985	3	2	39	1	0	0	0	0	1	0	0	0	7693	40	2	5	656	5	IL33	9	6255985	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	1178445	6255985	134957446	125	35483											
BNC2	54796	broad.mit.edu	37	chr9	16436469	16436469	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccctggagtgagtaaacTtctataaaatggaggaactg	10	7	1	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr9:16436469T>G	uc003zml.2	-	6	1863	c.1723A>C	c.(1723-1725)AGT>CGT	p.S575R	BNC2_uc011lmw.1_Missense_Mutation_p.S480R|BNC2_uc003zmm.2_Missense_Mutation_p.S533R|BNC2_uc003zmq.1_Missense_Mutation_p.S589R|BNC2_uc003zmr.1_Missense_Mutation_p.S612R|BNC2_uc003zmp.1_Missense_Mutation_p.S603R|BNC2_uc010mij.1_Missense_Mutation_p.S497R|BNC2_uc011lmv.1_Missense_Mutation_p.S401R|BNC2_uc003zmo.1_Missense_Mutation_p.S497R|BNC2_uc003zmj.2_Missense_Mutation_p.S340R|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.S340R|BNC2_uc003zmn.1_Missense_Mutation_p.S340R	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	575	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		GTGAGTAAACTTCTATAAAAT	0.517													G	16436469	T	G	16436469	3	3	39	1	0	0	0	0	1	0	0	0	1475	1609	56	5	1584	5	BNC2	9	16436469	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	10180484	16436469	124776962	126	35484											
RNF38	152006	broad.mit.edu	37	chr9	36357894	36357894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtggaatcccatgtggtgCcactgttgttactgtgtaag	13	7	0	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr9:36357894C>T	uc003zzh.2	-	5	807	c.616G>A	c.(616-618)GCA>ACA	p.A206T	RNF38_uc003zzi.2_Missense_Mutation_p.A156T|RNF38_uc003zzj.2_Missense_Mutation_p.A123T|RNF38_uc003zzk.2_Missense_Mutation_p.A123T|RNF38_uc003zzl.2_Missense_Mutation_p.A130T|RNF38_uc003zzm.2_Missense_Mutation_p.A123T	NM_022781	NP_073618	Q9H0F5	RNF38_HUMAN	ring finger protein 38 isoform 1	206			A -> T.				zinc ion binding			central_nervous_system(1)	1			STAD - Stomach adenocarcinoma(86;0.228)			CCATGTGGTGCCACTGTTGTT	0.453													T	36357894	C	T	36357894	3	4	39	1	0	0	0	0	1	0	0	0	13490	739	26	2	963	2	RNF38	9	36357894	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	19921425	36357894	104855537	127	35485											
TRPM3	80036	broad.mit.edu	37	chr9	73240173	73240173	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtgtagttgcagcgataAgccccgcccatcaggtactc	11	14	1	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr9:73240173A>C	uc004aid.2	-	13	1951	c.1707T>G	c.(1705-1707)GCT>GCG	p.A569A	TRPM3_uc004ahu.2_Silent_p.A399A|TRPM3_uc004ahv.2_Silent_p.A381A|TRPM3_uc004ahw.2_Silent_p.A441A|TRPM3_uc004ahx.2_Silent_p.A428A|TRPM3_uc004ahy.2_Silent_p.A441A|TRPM3_uc004ahz.2_Silent_p.A428A|TRPM3_uc004aia.2_Silent_p.A416A|TRPM3_uc004aib.2_Silent_p.A416A|TRPM3_uc004aic.2_Silent_p.A569A	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	594	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						TGCAGCGATAAGCCCCGCCCA	0.582													C	73240173	A	C	73240173	2	2	39	1	0	0	0	0	0	0	0	1	16584	59	3	5		5	TRPM3	9	73240173	Silent	SNP	A	TCGA-BR-6706-01A-11D-1882-08	36882279	73240173	67973258	128	35486											
PTPDC1	138639	broad.mit.edu	37	chr9	96847701	96847701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattaagggggtttactcatCctggtgagtgatcctgttgg	13	7	1	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr9:96847701C>T	uc004auf.1	+	3	591	c.251C>T	c.(250-252)TCC>TTC	p.S84F	PTPDC1_uc004aug.1_Missense_Mutation_p.S84F|PTPDC1_uc004auh.1_Missense_Mutation_p.S136F|PTPDC1_uc010mrj.1_Missense_Mutation_p.S138F|PTPDC1_uc010mri.1_Missense_Mutation_p.S136F	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	84							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1						GTTTACTCATCCTGGTGAGTG	0.483													T	96847701	C	T	96847701	3	4	39	1	0	0	0	0	1	0	0	0	12773	855	30	4	499	4	PTPDC1	9	96847701	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	23607528	96847701	44365730	129	35487											
FOXE1	2304	broad.mit.edu	37	chr9	100616468	100616468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcgcttccccttctaccGcgacaaccccaaaaagtggc	8	17	1	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr9:100616468G>A	uc004axu.2	+	1	932	c.272G>A	c.(271-273)CGC>CAC	p.R91H		NM_004473	NP_004464	O00358	FOXE1_HUMAN	forkhead box E1	91	Fork-head.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		Acute lymphoblastic leukemia(62;0.158)				CCCTTCTACCGCGACAACCCC	0.647													A	100616468	G	A	100616468	3	1	39	1	0	0	0	0	1	0	0	0	6003	1087	38	1	274	1	FOXE1	9	100616468	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	3768767	100616468	40596963	130	35488											
LPPR1	54886	broad.mit.edu	37	chr9	104075105	104075105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattacaagcacaatcaagaCgaagagcagtcgactggcca	9	10	1	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr9:104075105C>T	uc004bbb.2	+	6	1061	c.662C>T	c.(661-663)ACG>ATG	p.T221M	LPPR1_uc011lvi.1_Missense_Mutation_p.T197M|LPPR1_uc004bbc.2_Missense_Mutation_p.T221M|LPPR1_uc010mtc.2_Missense_Mutation_p.T205M	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	plasticity related gene 3	221						integral to membrane	catalytic activity				0						ACAATCAAGACGAAGAGCAGT	0.547													T	104075105	C	T	104075105	3	4	39	1	0	0	0	0	1	0	0	0	8924	536	19	1	680	1	LPPR1	9	104075105	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	3458637	104075105	37138326	131	35489											
ZNF462	58499	broad.mit.edu	37	chr9	109736459	109736459	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagctgggcactcagcagTtcccgaggagggccccaaag	15	12	1	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr9:109736459T>C	uc004bcz.2	+	9	7026	c.6737T>C	c.(6736-6738)GTT>GCT	p.V2246A	ZNF462_uc010mto.2_Missense_Mutation_p.V2155A|ZNF462_uc004bda.2_Missense_Mutation_p.V2154A|ZNF462_uc011lvz.1_Missense_Mutation_p.V203A|ZNF462_uc004bdb.1_Missense_Mutation_p.V154A	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	2246					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						CACTCAGCAGTTCCCGAGGAG	0.517													C	109736459	T	C	109736459	3	2	39	1	0	0	0	0	1	0	0	0	17923	1725	60	3	6767	3	ZNF462	9	109736459	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	5661354	109736459	31476972	132	35490											
OR2K2	26248	broad.mit.edu	37	chr9	114090461	114090461	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttttctgggatgacagcaAgttcaccagcaaagtaggaa	12	7	2	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr9:114090461A>C	uc011lwp.1	-	1	253	c.253T>G	c.(253-255)TTG>GTG	p.L85V		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K,	114	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GATGACAGCAAGTTCACCAGC	0.458													C	114090461	A	C	114090461	3	2	39	1	0	0	0	0	1	0	0	0	11005	69	3	5	700	5	OR2K2	9	114090461	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	4354002	114090461	27122970	133	35491											
TLR4	7099	broad.mit.edu	37	chr9	120475898	120475898	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacagagctgagaaacTtgaccttcctggacctctct	7	13	3	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr9:120475898T>G	uc004bjz.2	+	3	1783	c.1492T>G	c.(1492-1494)TTG>GTG	p.L498V	TLR4_uc004bka.2_Missense_Mutation_p.L458V|TLR4_uc004bkb.2_Missense_Mutation_p.L298V	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	498	LRR 16.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						GCTGAGAAACTTGACCTTCCT	0.448													G	120475898	T	G	120475898	3	3	39	1	0	0	0	0	1	0	0	0	15950	1606	56	5	1502	5	TLR4	9	120475898	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	6385437	120475898	20737533	134	35492											
STRBP	55342	broad.mit.edu	37	chr9	125936031	125936031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtctttgcacattaaaacCagctccaagtccatatcatc	4	12	2	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr9:125936031C>T	uc004bns.2	-	5	745	c.315G>A	c.(313-315)CTG>CTA	p.L105L	STRBP_uc004bnt.2_5'UTR|STRBP_uc004bnu.2_Silent_p.L91L|STRBP_uc004bnv.2_Silent_p.L105L	NM_018387	NP_060857	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	105	DZF.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|skin(1)	2						ACATTAAAACCAGCTCCAAGT	0.408													T	125936031	C	T	125936031	2	4	39	1	0	0	0	0	0	0	0	1	15326	581	21	4		4	STRBP	9	125936031	Silent	SNP	C	TCGA-BR-6706-01A-11D-1882-08	5460133	125936031	15277400	135	35493											
NEBL	10529	broad.mit.edu	37	chr10	21139351	21139351	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcttttgagcctccttTgaagcttgatatgatggtgt	10	7	1	4			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr10:21139351T>G	uc001iqi.2	-	11	1486	c.1089A>C	c.(1087-1089)TCA>TCC	p.S363S	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	363	Nebulin 10.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						GAGCCTCCTTTGAAGCTTGAT	0.318													G	21139351	T	G	21139351	2	3	39	1	0	0	0	0	0	0	0	1	10303	1799	63	5		5	NEBL	10	21139351	Silent	SNP	T	TCGA-BR-6706-01A-11D-1882-08		21139351	114395396	136	35494											
PGBD3	267004	broad.mit.edu	37	chr10	50724274	50724274	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtggcaccacaccaaaacTtatagccaaaccgaatgggc	9	12	0	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr10:50724274T>G	uc001jht.2	-	2	1142	c.887A>C	c.(886-888)AAG>ACG	p.K296T	ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Missense_Mutation_p.K764T|PGBD3_uc001jhu.2_Missense_Mutation_p.K764T	NM_170753	NP_736609	Q8N328	PGBD3_HUMAN	hypothetical protein LOC267004	296										pancreas(1)|breast(1)|skin(1)	3						ACACCAAAACTTATAGCCAAA	0.433													G	50724274	T	G	50724274	3	3	39	1	0	0	0	0	1	0	0	0	11782	1609	56	5	898	5	PGBD3	10	50724274	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	29584923	50724274	84810473	137	35495											
PCDH15	65217	broad.mit.edu	37	chr10	55700715	55700715	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatggtccctttggtggcaAgttcacttactggaggaggt	13	9	1	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr10:55700715A>G	uc001jju.1	-	24	3538	c.3143T>C	c.(3142-3144)CTT>CCT	p.L1048P	PCDH15_uc010qhq.1_Missense_Mutation_p.L1053P|PCDH15_uc010qhr.1_Missense_Mutation_p.L1048P|PCDH15_uc010qhs.1_Missense_Mutation_p.L1060P|PCDH15_uc010qht.1_Missense_Mutation_p.L1055P|PCDH15_uc010qhu.1_Missense_Mutation_p.L1048P|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.L1048P|PCDH15_uc010qhw.1_Missense_Mutation_p.L1011P|PCDH15_uc010qhx.1_Missense_Mutation_p.L977P|PCDH15_uc010qhy.1_Missense_Mutation_p.L1053P|PCDH15_uc010qhz.1_Missense_Mutation_p.L1048P|PCDH15_uc010qia.1_Missense_Mutation_p.L1026P|PCDH15_uc010qib.1_Missense_Mutation_p.L1026P	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1048	Cadherin 10.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTGGTGGCAAGTTCACTTAC	0.308										HNSCC(58;0.16)			G	55700715	A	G	55700715	3	3	39	1	0	0	0	0	1	0	0	0	11511	72	3	3	4383	3	PCDH15	10	55700715	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	4976441	55700715	79834032	138	35496											
ARHGAP19	84986	broad.mit.edu	37	chr10	99019212	99019212	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagggcaaggttataggctgAcatcttgttcttgtcttgtt	11	6	3	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr10:99019212A>C	uc001knb.2	-	5	816	c.787T>G	c.(787-789)TCA>GCA	p.S263A	ARHGAP19_uc001kmy.2_RNA|ARHGAP19_uc001kna.2_Missense_Mutation_p.S254A|ARHGAP19_uc009xvi.2_RNA|ARHGAP19_uc009xvj.2_Missense_Mutation_p.S263A|ARHGAP19_uc009xvk.2_Missense_Mutation_p.S57A	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	263	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity				0		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		TTATAGGCTGACATCTTGTTC	0.438													C	99019212	A	C	99019212	3	2	39	1	0	0	0	0	1	0	0	0	869	275	10	5	729	5	ARHGAP19	10	99019212	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	43318497	99019212	36515535	139	35497											
CPN1	1369	broad.mit.edu	37	chr10	101802248	101802248	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctggcttggggctgcactTtggctctgactccgtgcctt	12	12	2	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr10:101802248T>G	uc001kql.2	-	9	1573	c.1313A>C	c.(1312-1314)AAA>ACA	p.K438T		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	438					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GGGCTGCACTTTGGCTCTGAC	0.527													G	101802248	T	G	101802248	3	3	39	1	0	0	0	0	1	0	0	0	3809	1841	64	5	67	5	CPN1	10	101802248	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	2783036	101802248	33732499	140	35498											
LBX1	10660	broad.mit.edu	37	chr10	102987446	102987446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacttctggtatagaaagcGcttttccaattcatagatct	7	8	3	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr10:102987446G>A	uc001ksx.2	-	2	572	c.427C>T	c.(427-429)CGC>TGC	p.R143C	uc010qpy.1_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	ladybird homeobox 1	143	Homeobox.				muscle organ development		sequence-specific DNA binding				0		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		TATAGAAAGCGCTTTTCCAAT	0.582													A	102987446	G	A	102987446	3	1	39	1	0	0	0	0	1	0	0	0	8653	1087	38	1	422	1	LBX1	10	102987446	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	1185198	102987446	32547301	141	35499											
NOLC1	9221	broad.mit.edu	37	chr10	103919991	103919991	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctacaggttctcctcagaTtcaagttctgaagaagagaa	9	8	4	4	rs151088360	byFrequency	TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr10:103919991T>G	uc001kuo.2	+	9	1225	c.990T>G	c.(988-990)GAT>GAG	p.D330E	NOLC1_uc001kup.2_Missense_Mutation_p.D340E|NOLC1_uc001kuq.2_Missense_Mutation_p.D331E|NOLC1_uc009xxb.1_Missense_Mutation_p.D49E|NOLC1_uc001kur.2_Missense_Mutation_p.D49E	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	330	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.|Acidic serine cluster 6.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		TCTCCTCAGATTCAAGTTCTG	0.473													G	103919991	T	G	103919991	3	3	39	1	0	0	0	0	1	0	0	0	10529	1507	52	5	1024	5	NOLC1	10	103919991	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	932545	103919991	31614756	142	35500											
PSD	5662	broad.mit.edu	37	chr10	104164417	104164417	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctaacagcagctgggaaggGgggcgcagagaacatagcgg	18	8	0	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr10:104164417G>T	uc001kvg.1	-	15	3150	c.2623C>A	c.(2623-2625)CCC>ACC	p.P875T	PSD_uc001kve.1_Missense_Mutation_p.P83T|PSD_uc001kvf.1_Missense_Mutation_p.P244T|PSD_uc001kvh.1_Missense_Mutation_p.P496T|PSD_uc009xxd.1_Missense_Mutation_p.P875T	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	875					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCTGGGAAGGGGGGCGCAGAG	0.612													T	104164417	G	T	104164417	3	4	39	1	0	0	0	0	1	0	0	0	12646	1232	43	5	463	5	PSD	10	104164417	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	244426	104164417	31370330	143	35501											
TRIM8	81603	broad.mit.edu	37	chr10	104416988	104416988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctcccgcccacaccctcCgtcccccagtcccttcccag	5	26	0	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr10:104416988C>T	uc001kvz.2	+	6	1656	c.1533C>T	c.(1531-1533)TCC>TCT	p.S511S		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	tripartite motif-containing 8	511						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCACACCCTCCGTCCCCCAGT	0.682													T	104416988	C	T	104416988	2	4	39	1	0	0	0	0	0	0	0	1	16545	639	23	1		1	TRIM8	10	104416988	Silent	SNP	C	TCGA-BR-6706-01A-11D-1882-08	252571	104416988	31117759	144	35502											
PNLIPRP3	119548	broad.mit.edu	37	chr10	118236234	118236234	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaacgttggaaacattacaAgtgttcagttcatctggaaa	8	6	3	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr10:118236234A>C	uc001lcl.3	+	11	1344	c.1243A>C	c.(1243-1245)AGT>CGT	p.S415R		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	415	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity	p.S415C(1)		ovary(1)	1				all cancers(201;0.0131)		AAACATTACAAGTGTTCAGTT	0.338													C	118236234	A	C	118236234	3	2	39	1	0	0	0	0	1	0	0	0	12152	72	3	5	1285	5	PNLIPRP3	10	118236234	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	13819246	118236234	17298513	145	35503											
SLC18A2	6571	broad.mit.edu	37	chr10	119003515	119003515	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagttatctgtacagcattaAgcatgagaagaatgctacag	9	6	1	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr10:119003515A>C	uc001ldd.1	+	3	186	c.155A>C	c.(154-156)AAG>ACG	p.K52T	SLC18A2_uc009xyy.1_5'UTR	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine),	52	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity				0		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TACAGCATTAAGCATGAGAAG	0.488													C	119003515	A	C	119003515	3	2	39	1	0	0	0	0	1	0	0	0	14426	72	3	5	161	5	SLC18A2	10	119003515	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	767281	119003515	16531232	146	35504											
TACC2	10579	broad.mit.edu	37	chr10	123843481	123843481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggggaccctggagaggTtcctgccccatcaccccagg	13	14	1	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr10:123843481T>C	uc001lfv.2	+	4	1826	c.1466T>C	c.(1465-1467)GTT>GCT	p.V489A	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.V489A|TACC2_uc010qtv.1_Missense_Mutation_p.V489A	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	489	Pro-rich.					microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCTGGAGAGGTTCCTGCCCCA	0.597													C	123843481	T	C	123843481	3	2	39	1	0	0	0	0	1	0	0	0	15499	1725	60	3	1476	3	TACC2	10	123843481	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	4839966	123843481	11691266	147	35505											
CARS	833	broad.mit.edu	37	chr11	3040369	3040369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactctgttttcacctacCtccgactgtgccagctcatt	8	14	3	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr11:3040369C>T	uc001lxh.2	-	11	1220	c.1146G>A	c.(1144-1146)GAG>GAA	p.E382E	CARS_uc001lxe.2_Silent_p.E372E|CARS_uc001lxf.2_Silent_p.E465E|CARS_uc001lxg.2_Silent_p.E382E|CARS_uc010qxo.1_Silent_p.E465E|CARS_uc010qxp.1_Silent_p.E395E	NM_001751	NP_001742	P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase isoform b	382					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding		CARS/ALK(5)	soft_tissue(5)|ovary(2)	7		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	TTTCACCTACCTCCGACTGTG	0.582			T	ALK	ALCL								T	3040369	C	T	3040369	2	4	39	1	0	0	0	0	0	0	0	1	2657	695	24	4		4	CARS	11	3040369	Silent	SNP	C	TCGA-BR-6706-01A-11D-1882-08		3040369	131966147	148	35506											
OR52K2	119774	broad.mit.edu	37	chr11	4471192	4471192	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcgctgtggccatgtttaTtgtggtgttggacctgctcc	12	10	0	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr11:4471192T>G	uc001lyz.1	+	1	623	c.623T>G	c.(622-624)ATT>AGT	p.I208S		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K,	208	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCATGTTTATTGTGGTGTTG	0.502													G	4471192	T	G	4471192	3	3	39	1	0	0	0	0	1	0	0	0	11124	1493	52	5	625	5	OR52K2	11	4471192	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	1430823	4471192	130535324	149	35507											
OR56A3	390083	broad.mit.edu	37	chr11	5969389	5969389	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acacatgtggctaagaagaaAgtctcccctgatgtgccagt	10	10	1	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr11:5969389A>C	uc010qzt.1	+	1	813	c.813A>C	c.(811-813)AAA>AAC	p.K271N		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A,	271	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAAGAAGAAAGTCTCCCCTG	0.493													C	5969389	A	C	5969389	3	2	39	1	0	0	0	0	1	0	0	0	11134	69	3	5	815	5	OR56A3	11	5969389	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	1498197	5969389	129037127	150	35508											
LRP4	4038	broad.mit.edu	37	chr11	46896598	46896598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacaggagaagccagaagGccgaggcaagcagaggtggg	19	8	0	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr11:46896598G>A	uc001ndn.3	-	28	4128	c.3982C>T	c.(3982-3984)CCT>TCT	p.P1328S		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1328	Extracellular (Potential).				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		AAGCCAGAAGGCCGAGGCAAG	0.572													A	46896598	G	A	46896598	3	1	39	1	0	0	0	0	1	0	0	0	8959	1203	42	2	1779	2	LRP4	11	46896598	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	40927209	46896598	88109918	151	35509											
OR4C6	219432	broad.mit.edu	37	chr11	55433389	55433390	+	Missense_Mutation	DNP	TG	TG	AT													acggtggttgtattgttcttTgtcccctgtattttcttgta					rs75211559		TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr11:55433389_55433390TG>AT	uc001nht.3	+	3	1012_1013	c.747_748TG>AT	c.(745-750)TTTGTC>TTATTC	p.249_250FV>LF	OR4C6_uc010rik.1_Missense_Mutation_p.249_250FV>LF	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	249_250	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						TATTGTTCTTTGTCCCCTGTAT	0.5													AT	55433390	TG	AT	55433389	3	1	39	1	0	0	0	0	1	0	0	0	11052	1809	63	5	749	5	OR4C6	11	55433389	Missense_Mutation	DNP	TG	TCGA-BR-6706-01A-11D-1882-08	8536791	55433389	79573127	152	35510											
OR5D14	219436	broad.mit.edu	37	chr11	55563569	55563569	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaatgtaatcaaccacttcTtttgtgagtatactgctctc	5	10	3	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr11:55563569T>C	uc010rim.1	+	1	538	c.538T>C	c.(538-540)TTT>CTT	p.F180L		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	180	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)				CAACCACTTCTTTTGTGAGTA	0.478													C	55563569	T	C	55563569	3	2	39	1	0	0	0	0	1	0	0	0	11155	1609	56	3	540	3	OR5D14	11	55563569	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	130180	55563569	79442947	153	35511											
OR5T2	219464	broad.mit.edu	37	chr11	55999756	55999756	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtccgaagcatagctggaActtggtctcacatacatgaa	10	9	1	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr11:55999756A>C	uc010rjc.1	-	1	906	c.906T>G	c.(904-906)AGT>AGG	p.S302R		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	302	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					CATAGCTGGAACTTGGTCTCA	0.433													C	55999756	A	C	55999756	3	2	39	1	0	0	0	0	1	0	0	0	11182	40	2	5	172	5	OR5T2	11	55999756	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	436187	55999756	79006760	154	35512											
MS4A6A	64231	broad.mit.edu	37	chr11	59949151	59949151	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgggagaagttgatgacaTttgatgggagcactatgatg	14	4	0	5			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr11:59949151T>G	uc001nor.2	-	2	288	c.50A>C	c.(49-51)AAT>ACT	p.N17T	MS4A6A_uc001noq.2_Missense_Mutation_p.N17T|MS4A6A_uc001nos.3_Missense_Mutation_p.N45T|MS4A6A_uc009ymv.2_Missense_Mutation_p.N17T|MS4A6A_uc001not.2_Missense_Mutation_p.N17T|MS4A6A_uc010rla.1_Missense_Mutation_p.N45T|MS4A6A_uc010rlb.1_Missense_Mutation_p.N17T	NM_152852	NP_690591	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member	17	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						GTTGATGACATTTGATGGGAG	0.423													G	59949151	T	G	59949151	3	3	39	1	0	0	0	0	1	0	0	0	9864	1493	52	5	747	5	MS4A6A	11	59949151	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	3949395	59949151	75057365	155	35513											
MS4A10	341116	broad.mit.edu	37	chr11	60561521	60561521	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtcatctccaaggatcTctttctggagagcccatttg	8	12	4	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr11:60561521T>C	uc001npz.1	+	5	533	c.437T>C	c.(436-438)CTC>CCC	p.L146P		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member	146	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|skin(1)	2						TCCAAGGATCTCTTTCTGGAG	0.517													C	60561521	T	C	60561521	3	2	39	1	0	0	0	0	1	0	0	0	9855	1551	54	3	451	3	MS4A10	11	60561521	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	612370	60561521	74444995	156	35514											
NUMA1	4926	broad.mit.edu	37	chr11	71724063	71724063	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgctctgtgcttctcGctgcacctcagccagacggg	13	14	3	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr11:71724063G>A	uc001orl.1	-	15	4658	c.4486C>T	c.(4486-4488)CGA>TGA	p.R1496*	NUMA1_uc009ysw.1_Nonsense_Mutation_p.R1059*|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Nonsense_Mutation_p.R1496*|NUMA1_uc001orn.2_Nonsense_Mutation_p.R1059*|NUMA1_uc009ysx.1_Nonsense_Mutation_p.R1496*|NUMA1_uc001oro.1_Nonsense_Mutation_p.R1496*	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1496	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						TGTGCTTCTCGCTGCACCTCA	0.597			T	RARA	APL								A	71724063	G	A	71724063	4	1	39	1	0	0	0	0	0	1	0	0	10750	1095	38	1	1913	1	NUMA1	11	71724063	Nonsense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	11162542	71724063	63282453	157	35515											
GPR83	10888	broad.mit.edu	37	chr11	94113847	94113847	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaggggcaggatgtagAgcaggatgaaggtggccaag	20	4	0	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr11:94113847A>T	uc001pet.2	-	4	912	c.740T>A	c.(739-741)CTC>CAC	p.L247H		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83 precursor	247	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			central_nervous_system(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAGGATGTAGAGCAGGATGAA	0.567													T	94113847	A	T	94113847	3	4	39	1	0	0	0	0	1	0	0	0	6713	304	11	5	535	5	GPR83	11	94113847	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	22389784	94113847	40892669	158	35516											
USP28	57646	broad.mit.edu	37	chr11	113674571	113674571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagatacacagacacttttCggaacaaactataatcttca	6	9	2	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr11:113674571C>T	uc001poh.2	-	22	2720	c.2687G>A	c.(2686-2688)CGA>CAA	p.R896Q	USP28_uc001pog.2_Missense_Mutation_p.R572Q|USP28_uc010rwy.1_Missense_Mutation_p.R739Q|USP28_uc001poi.2_Missense_Mutation_p.R219Q	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	896					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AGACACTTTTCGGAACAAACT	0.333													T	113674571	C	T	113674571	3	4	39	1	0	0	0	0	1	0	0	0	17055	884	31	1	562	1	USP28	11	113674571	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	19560724	113674571	21331945	159	35517											
A2ML1	144568	broad.mit.edu	37	chr12	8998053	8998053	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttagttaatagggaaaggaAgtttggtgatggaggggcag	17	1	0	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr12:8998053A>C	uc001quz.3	+	13	1590	c.1492A>C	c.(1492-1494)AGT>CGT	p.S498R	A2ML1_uc001qva.1_Missense_Mutation_p.S78R|A2ML1_uc010sgm.1_5'UTR	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	342						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						AGGGAAAGGAAGTTTGGTGAT	0.398													C	8998053	A	C	8998053	3	2	39	1	0	0	0	0	1	0	0	0	5	72	3	5	1542	5	A2ML1	12	8998053	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08		8998053	124853842	160	35518											
LRRK2	120892	broad.mit.edu	37	chr12	40716140	40716140	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtattcttttgggccaAgttgtggaccacattgattc	11	8	1	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr12:40716140A>C	uc001rmg.3	+	37	5458	c.5337A>C	c.(5335-5337)CAA>CAC	p.Q1779H	LRRK2_uc009zjw.2_Missense_Mutation_p.Q617H|LRRK2_uc001rmi.2_Missense_Mutation_p.Q612H	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1779					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTTGGGCCAAGTTGTGGACC	0.393													C	40716140	A	C	40716140	3	2	39	1	0	0	0	0	1	0	0	0	9033	69	3	5	5483	5	LRRK2	12	40716140	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	31718087	40716140	93135755	161	35519											
TMEM117	84216	broad.mit.edu	37	chr12	44782372	44782372	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccacctaacctcggaaaacTtgagctcacagttgaacgaa	7	13	1	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr12:44782372T>G	uc001rod.2	+	8	1528	c.1462T>G	c.(1462-1464)TTG>GTG	p.L488V	TMEM117_uc001roe.2_Missense_Mutation_p.L384V|TMEM117_uc009zkc.2_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	488						endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CTCGGAAAACTTGAGCTCACA	0.453													G	44782372	T	G	44782372	3	3	39	1	0	0	0	0	1	0	0	0	16028	1606	56	5	1488	5	TMEM117	12	44782372	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	4066232	44782372	89069523	162	35520											
ERBB3	2065	broad.mit.edu	37	chr12	56478854	56478854	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccattgcccaacctccgcGtggtgcgagggacccaggtc	12	15	0	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr12:56478854G>T	uc001sjh.2	+	3	503	c.310G>T	c.(310-312)GTG>TTG	p.V104L	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45L|ERBB3_uc001sjg.2_Missense_Mutation_p.V104L	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	104	Extracellular (Potential).		V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).		cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.V104M(1)		lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517													T	56478854	G	T	56478854	3	4	39	1	0	0	0	0	1	0	0	0	5208	1145	40	5	320	5	ERBB3	12	56478854	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	11696482	56478854	77373041	163	35521											
ESYT1	23344	broad.mit.edu	37	chr12	56525562	56525562	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaactggacagggatgacCaacctgctggatatcccagg	11	11	1	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr12:56525562C>T	uc001sjq.2	+	7	884	c.834C>T	c.(832-834)ACC>ACT	p.T278T	ESYT1_uc001sjr.2_Silent_p.T278T	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	278						integral to membrane				ovary(4)|skin(1)	5						CAGGGATGACCAACCTGCTGG	0.338													T	56525562	C	T	56525562	2	4	39	1	0	0	0	0	0	0	0	1	5264	581	21	4		4	ESYT1	12	56525562	Silent	SNP	C	TCGA-BR-6706-01A-11D-1882-08	46708	56525562	77326333	164	35522											
MYF6	4618	broad.mit.edu	37	chr12	81101582	81101582	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagccattagaagtggcAgaaggctctcctttgtatcc	10	11	1	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr12:81101582A>G	uc001szf.1	+	1	137	c.84A>G	c.(82-84)GCA>GCG	p.A28A		NM_002469	NP_002460	P23409	MYF6_HUMAN	myogenic factor 6	28					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						TAGAAGTGGCAGAAGGCTCTC	0.527													G	81101582	A	G	81101582	2	3	39	1	0	0	0	0	0	0	0	1	10028	175	7	3		3	MYF6	12	81101582	Silent	SNP	A	TCGA-BR-6706-01A-11D-1882-08	24576020	81101582	52750313	165	35523											
NR1H4	9971	broad.mit.edu	37	chr12	100904824	100904824	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagccccgcatgggcgcGtcagcagggaggatcaaagg	16	10	2	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr12:100904824G>A	uc001tht.1	+	2	406	c.378G>A	c.(376-378)GCG>GCA	p.A126A	NR1H4_uc001thp.1_Silent_p.A116A|NR1H4_uc001thq.1_Silent_p.A116A|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Silent_p.A116A|NR1H4_uc010svk.1_Silent_p.A116A|NR1H4_uc001ths.1_Silent_p.A126A	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	126					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.A116A(1)		ovary(1)|lung(1)|skin(1)	3						GCATGGGCGCGTCAGCAGGGA	0.517													A	100904824	G	A	100904824	2	1	39	1	0	0	0	0	0	0	0	1	10619	1132	40	1		1	NR1H4	12	100904824	Silent	SNP	G	TCGA-BR-6706-01A-11D-1882-08	19803242	100904824	32947071	166	35524											
STAB2	55576	broad.mit.edu	37	chr12	104144357	104144357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccactctccctccacagGgcaagcacaagtgtgagtgt	9	14	1	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr12:104144357G>A	uc001tjw.2	+	60	6625	c.6439G>A	c.(6439-6441)GGC>AGC	p.G2147S	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2147	Extracellular (Potential).|EGF-like 17.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CCCTCCACAGGGCAAGCACAA	0.547													A	104144357	G	A	104144357	3	1	39	1	0	0	0	0	1	0	0	0	15237	1246	43	4	6677	4	STAB2	12	104144357	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	3239533	104144357	29707538	167	35525											
DAO	1610	broad.mit.edu	37	chr12	109294207	109294207	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaactatggccatggaggcTacgggctcaccatccactgg	11	13	1	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr12:109294207T>C	uc001tnr.3	+	11	1093	c.940T>C	c.(940-942)TAC>CAC	p.Y314H	DAO_uc001tnq.3_Missense_Mutation_p.Y248H|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	NM_001917	NP_001908	P14920	OXDA_HUMAN	D-amino-acid oxidase	314	FAD.				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			ovary(1)|skin(1)	2						CCATGGAGGCTACGGGCTCAC	0.547													C	109294207	T	C	109294207	3	2	39	1	0	0	0	0	1	0	0	0	4231	1522	53	3	978	3	DAO	12	109294207	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	5149850	109294207	24557688	168	35526											
UBE3B	89910	broad.mit.edu	37	chr12	109959319	109959319	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaattacctgcagctcttcgAgtttgtggggaagatgctgg	14	7	1	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr12:109959319A>G	uc001top.2	+	21	2930	c.2327A>G	c.(2326-2328)GAG>GGG	p.E776G	UBE3B_uc001toq.2_Missense_Mutation_p.E776G|UBE3B_uc001tos.2_Missense_Mutation_p.E203G|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.E776G	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	776	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						CAGCTCTTCGAGTTTGTGGGG	0.483													G	109959319	A	G	109959319	3	3	39	1	0	0	0	0	1	0	0	0	16877	304	11	3	2401	3	UBE3B	12	109959319	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	665112	109959319	23892576	169	35527											
TMEM132D	121256	broad.mit.edu	37	chr12	129566470	129566470	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcccccagggccggccgccTcagccacaaactgcgtcagg	12	18	2	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr12:129566470T>G	uc009zyl.1	-	7	2085	c.1757A>C	c.(1756-1758)GAG>GCG	p.E586A	TMEM132D_uc001uia.2_Missense_Mutation_p.E124A	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	586	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCCGGCCGCCTCAGCCACAAA	0.652													G	129566470	T	G	129566470	3	3	39	1	0	0	0	0	1	0	0	0	16044	1551	54	5	1554	5	TMEM132D	12	129566470	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	19607151	129566470	4285425	170	35528											
PARP4	143	broad.mit.edu	37	chr13	25049733	25049733	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggcatctggtaactggtaAtctaaacgttaaaaatgtta	8	5	2	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr13:25049733A>C	uc001upl.2	-	15	1897	c.1791T>G	c.(1789-1791)GAT>GAG	p.D597E	PARP4_uc010tdc.1_Missense_Mutation_p.D597E	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	597					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	p.D597H(1)		ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GTAACTGGTAATCTAAACGTT	0.418													C	25049733	A	C	25049733	3	2	39	1	0	0	0	0	1	0	0	0	11463	115	4	5	3463	5	PARP4	13	25049733	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08		25049733	90120145	171	35529											
NALCN	259232	broad.mit.edu	37	chr13	101944618	101944618	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgagagtgatgaaatagAagtaggaacgccaacgggga	14	4	0	4			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr13:101944618A>G	uc001vox.1	-	8	1088	c.899T>C	c.(898-900)TTC>TCC	p.F300S	NALCN_uc001voy.2_Missense_Mutation_p.F15S|NALCN_uc001voz.2_Missense_Mutation_p.F300S|NALCN_uc001vpa.2_Missense_Mutation_p.F300S	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	300	Extracellular (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GATGAAATAGAAGTAGGAACG	0.458													G	101944618	A	G	101944618	3	3	39	1	0	0	0	0	1	0	0	0	10148	246	9	3	4465	3	NALCN	13	101944618	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	76894885	101944618	13225260	172	35530											
LTB4R	1241	broad.mit.edu	37	chr14	24785153	24785153	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcactatgtctgcggagTcagcatgtacgccagcgtcc	12	12	3	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr14:24785153T>A	uc001wos.2	+	2	617	c.296T>A	c.(295-297)GTC>GAC	p.V99D	LTB4R_uc010alp.2_Missense_Mutation_p.V99D|LTB4R_uc001wou.2_Missense_Mutation_p.V99D	NM_001143919	NP_001137391	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	99	Helical; Name=3; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding				0				GBM - Glioblastoma multiforme(265;0.018)		GTCTGCGGAGTCAGCATGTAC	0.597													A	24785153	T	A	24785153	3	1	39	1	0	0	0	0	1	0	0	0	9071	1667	58	5	298	5	LTB4R	14	24785153	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08		24785153	82564387	173	35531											
FSCB	84075	broad.mit.edu	37	chr14	44975246	44975246	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaggtggaggctgaacTttaacagaattctccgcaac	10	10	2	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr14:44975246T>C	uc001wvn.2	-	1	1254	c.945A>G	c.(943-945)AAA>AAG	p.K315K		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	315						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		GAGGCTGAACTTTAACAGAAT	0.522													C	44975246	T	C	44975246	2	2	39	1	0	0	0	0	0	0	0	1	6066	1606	56	3		3	FSCB	14	44975246	Silent	SNP	T	TCGA-BR-6706-01A-11D-1882-08	20190093	44975246	62374294	174	35532											
SAV1	60485	broad.mit.edu	37	chr14	51107520	51107520	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtcaggaatttctgcagtatGatatggatttgcaggtacca	11	6	2	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr14:51107520G>C	uc001wyg.1	-	5	1059	c.898C>G	c.(898-900)CAT>GAT	p.H300D	SAV1_uc001wyh.1_Missense_Mutation_p.H300D	NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	WW45 protein	300					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)	1	all_epithelial(31;0.000611)|Breast(41;0.0333)					TCTGCAGTATGATATGGATTT	0.448													C	51107520	G	C	51107520	3	2	39	1	0	0	0	0	1	0	0	0	13856	1290	45	5	261	5	SAV1	14	51107520	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	6132274	51107520	56242020	175	35533											
MAX	4149	broad.mit.edu	37	chr14	65544747	65544747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtctaggatttgggccCgggatgcctgtggcaatatg	14	8	1	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr14:65544747C>T	uc001xif.1	-	4	349	c.179G>A	c.(178-180)CGG>CAG	p.R60Q	MAX_uc001xic.1_Intron|MAX_uc001xie.1_Missense_Mutation_p.R60Q|MAX_uc010aql.1_Intron|MAX_uc001xig.1_Missense_Mutation_p.R51Q|MAX_uc001xih.1_RNA|MAX_uc001xii.1_Missense_Mutation_p.R51Q|MAX_uc001xij.1_Missense_Mutation_p.R60Q	NM_002382	NP_002373	P61244	MAX_HUMAN	MAX protein isoform a	60	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(1)	1				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GATTTGGGCCCGGGATGCCTG	0.498													T	65544747	C	T	65544747	3	4	39	1	0	0	0	0	1	0	0	0	9339	652	23	1	527	1	MAX	14	65544747	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	14437227	65544747	41804793	176	35534											
KIAA1409	57578	broad.mit.edu	37	chr14	94007143	94007143	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacgatgataaacacgatcAgaggctgctcagtcaattcg	11	9	3	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr14:94007143A>G	uc001ybv.1	+	10	1042	c.959A>G	c.(958-960)CAG>CGG	p.Q320R	KIAA1409_uc001ybs.1_Missense_Mutation_p.Q320R|KIAA1409_uc001ybu.1_Missense_Mutation_p.Q258R	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	497						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		AAACACGATCAGAGGCTGCTC	0.433													G	94007143	A	G	94007143	3	3	39	1	0	0	0	0	1	0	0	0	8230	188	7	3	997	3	KIAA1409	14	94007143	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	28462396	94007143	13342397	177	35535											
C14orf49	161176	broad.mit.edu	37	chr14	95912417	95912417	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctttcaggcgggagctttcCatcagggctgcctgtgggag	15	10	3	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr14:95912417C>G	uc001yei.3	-	8	1476	c.1461G>C	c.(1459-1461)ATG>ATC	p.M487I	C14orf49_uc010avi.2_Missense_Mutation_p.M487I|C14orf49_uc001yej.1_Missense_Mutation_p.M487I	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	487	Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		GGGAGCTTTCCATCAGGGCTG	0.587													G	95912417	C	G	95912417	3	3	39	1	0	0	0	0	1	0	0	0	1776	594	21	5	1506	5	C14orf49	14	95912417	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	1905274	95912417	11437123	178	35536											
RTL1	388015	broad.mit.edu	37	chr14	101348153	101348153	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttctcacaggtggcagagcTcggccgccgtcttgttctgg	13	12	3	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr14:101348153T>A	uc010txj.1	-	1	3032	c.2973A>T	c.(2971-2973)CGA>CGT	p.R991R	MIR433_hsa-mir-433|MI0001723_5'Flank|uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	991										pancreas(1)	1						GTGGCAGAGCTCGGCCGCCGT	0.592													A	101348153	T	A	101348153	2	1	39	1	0	0	0	0	0	0	0	1	13724	1538	54	5		5	RTL1	14	101348153	Silent	SNP	T	TCGA-BR-6706-01A-11D-1882-08	5435736	101348153	6001387	179	35537											
SLC12A6	9990	broad.mit.edu	37	chr15	34533513	34533513	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgagggacagcccacggaTaccatcaccccattctttct	7	15	3	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr15:34533513T>C	uc001zhw.2	-	17	2352	c.2188A>G	c.(2188-2190)ATC>GTC	p.I730V	SLC12A6_uc001zhv.2_Missense_Mutation_p.I679V|SLC12A6_uc001zhx.2_Missense_Mutation_p.I715V|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.I671V|SLC12A6_uc001zib.2_Missense_Mutation_p.I721V|SLC12A6_uc001zic.2_Missense_Mutation_p.I730V|SLC12A6_uc010bau.2_Missense_Mutation_p.I730V|SLC12A6_uc001zid.2_Missense_Mutation_p.I671V|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.I542V	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	730					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AGCCCACGGATACCATCACCC	0.393													C	34533513	T	C	34533513	3	2	39	1	0	0	0	0	1	0	0	0	14387	1406	49	3	1300	3	SLC12A6	15	34533513	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08		34533513	67997879	180	35538											
GPR176	11245	broad.mit.edu	37	chr15	40094058	40094058	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcacgctacacaagatgaAgaccatcaccatggagagca	11	11	1	4			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr15:40094058A>G	uc001zkj.1	-	3	1689	c.823T>C	c.(823-825)TTC>CTC	p.F275L	GPR176_uc010uck.1_Missense_Mutation_p.F215L	NM_007223	NP_009154	Q14439	GP176_HUMAN	G protein-coupled receptor 176	275	Helical; Name=6; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CACAAGATGAAGACCATCACC	0.582											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	40094058	A	G	40094058	3	3	39	1	0	0	0	0	1	0	0	0	6673	72	3	3	728	3	GPR176	15	40094058	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	5560545	40094058	62437334	181	35539											
NDUFAF1	51103	broad.mit.edu	37	chr15	41679693	41679693	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaattttcataggcaaattcTtctgtatgagctggatcagt	9	6	4	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr15:41679693T>G	uc001znx.2	-	5	1315	c.933A>C	c.(931-933)GAA>GAC	p.E311D	NDUFAF1_uc010bcf.2_RNA	NM_016013	NP_057097	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	311					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			ovary(1)	1		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		AGGCAAATTCTTCTGTATGAG	0.368													G	41679693	T	G	41679693	3	3	39	1	0	0	0	0	1	0	0	0	10274	1606	56	5	54	5	NDUFAF1	15	41679693	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	1585635	41679693	60851699	182	35540											
MGA	23269	broad.mit.edu	37	chr15	42040962	42040962	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttagacctgtctcaaacacAcaacttcagggacatcggat	7	12	2	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr15:42040962A>T	uc010ucy.1	+	16	5521	c.5340A>T	c.(5338-5340)ACA>ACT	p.T1780T	MGA_uc010ucz.1_Silent_p.T1571T|MGA_uc010uda.1_Silent_p.T396T|MGA_uc001zoi.2_5'UTR	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCTCAAACACACAACTTCAGG	0.493													T	42040962	A	T	42040962	2	4	39	1	0	0	0	0	0	0	0	1	9540	146	6	5		5	MGA	15	42040962	Silent	SNP	A	TCGA-BR-6706-01A-11D-1882-08	361269	42040962	60490430	183	35541											
PIAS1	8554	broad.mit.edu	37	chr15	68479946	68479946	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgatcaagacctcctacacTcgtctcggtttttcccgtat	6	13	2	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr15:68479946T>C	uc002aqz.2	+	14	1825	c.1729T>C	c.(1729-1731)TCG>CCG	p.S577P	PIAS1_uc002ara.2_Missense_Mutation_p.S185P	NM_016166	NP_057250	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	577	Ser-rich.|4 X 4 AA repeats of N-T-S-L.				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						CCTCCTACACTCGTCTCGGTT	0.478													C	68479946	T	C	68479946	3	2	39	1	0	0	0	0	1	0	0	0	11875	1551	54	3	1783	3	PIAS1	15	68479946	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	26438984	68479946	34051446	184	35542											
DNAJA4	55466	broad.mit.edu	37	chr15	78566640	78566640	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgggcatggtacagcagAtccagaccgtgtgcatcgag	15	11	0	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr15:78566640A>G	uc002bdj.1	+	4	637	c.520A>G	c.(520-522)ATC>GTC	p.I174V	DNAJA4_uc002bdi.2_Missense_Mutation_p.I203V|DNAJA4_uc002bdk.2_Missense_Mutation_p.I147V|DNAJA4_uc002bdl.2_Missense_Mutation_p.I89V|DNAJA4_uc002bdm.1_5'Flank	NM_001130182	NP_001123654	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	174	CR-type.				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			skin(1)	1						GGTACAGCAGATCCAGACCGT	0.627													G	78566640	A	G	78566640	3	3	39	1	0	0	0	0	1	0	0	0	4614	333	12	3	680	3	DNAJA4	15	78566640	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	10086694	78566640	23964752	185	35543											
OR4F6	390648	broad.mit.edu	37	chr15	102346405	102346405	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactcagtgattcagttggcTtttgttgtagacctgctgtt	10	8	2	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr15:102346405T>C	uc010utr.1	+	1	483	c.483T>C	c.(481-483)GCT>GCC	p.A161A		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F,	161	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTCAGTTGGCTTTTGTTGTAG	0.398													C	102346405	T	C	102346405	2	2	39	1	0	0	0	0	0	0	0	1	11066	1596	56	3		3	OR4F6	15	102346405	Silent	SNP	T	TCGA-BR-6706-01A-11D-1882-08	23779765	102346405	184987	186	35544											
NETO2	81831	broad.mit.edu	37	chr16	47117496	47117496	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgcagaaatctctttgTcccttagtgaaaacagttca	8	9	3	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr16:47117496T>C	uc002eer.1	-	9	1599	c.1214A>G	c.(1213-1215)GAC>GGC	p.D405G	NETO2_uc002eeq.1_Missense_Mutation_p.D140G|NETO2_uc010vgf.1_Missense_Mutation_p.D262G	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	neuropilin- and tolloid-like protein 2	405	Cytoplasmic (Potential).					integral to membrane	receptor activity				0		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				AATCTCTTTGTCCCTTAGTGA	0.493										HNSCC(25;0.065)			C	47117496	T	C	47117496	3	2	39	1	0	0	0	0	1	0	0	0	10340	1667	58	3	367	3	NETO2	16	47117496	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08		47117496	43237257	187	35545											
LPCAT2	54947	broad.mit.edu	37	chr16	55613109	55613109	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagtgcctgaccttgatgTttctggtctcttcaaggaaa	11	8	3	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr16:55613109T>G	uc002eie.3	+	13	1584	c.1403T>G	c.(1402-1404)GTT>GGT	p.V468G	LPCAT2_uc002eic.2_Missense_Mutation_p.V198G	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	468	Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0						GACCTTGATGTTTCTGGTCTC	0.468													G	55613109	T	G	55613109	3	3	39	1	0	0	0	0	1	0	0	0	8911	1725	60	5	1453	5	LPCAT2	16	55613109	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	8495613	55613109	34741644	188	35546											
GPR114	221188	broad.mit.edu	37	chr16	57597818	57597818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccccgccgagctgacccGggacgcctgcaagacccgcc	12	19	0	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr16:57597818G>A	uc002elx.3	+	5	441	c.356G>A	c.(355-357)CGG>CAG	p.R119Q	GPR114_uc010vhr.1_Missense_Mutation_p.R119Q|GPR114_uc002ely.2_Missense_Mutation_p.R119Q	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	119	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						GAGCTGACCCGGGACGCCTGC	0.632													A	57597818	G	A	57597818	3	1	39	1	0	0	0	0	1	0	0	0	6631	1116	39	1	370	1	GPR114	16	57597818	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	1984709	57597818	32756935	189	35547											
TK2	7084	broad.mit.edu	37	chr16	66565325	66565325	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcatggtgagctgcacataAgtctgtagcgtaagacccca	11	10	1	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr16:66565325A>C	uc002eos.2	-	5	684	c.459T>G	c.(457-459)ACT>ACG	p.T153T	TK2_uc010vip.1_Silent_p.T14T|TK2_uc002eor.2_Silent_p.T80T|TK2_uc010cdq.2_Silent_p.T80T|TK2_uc010cdr.2_Silent_p.T62T|TK2_uc010viq.1_Silent_p.T135T|TK2_uc010vir.1_Silent_p.T128T	NM_004614	NP_004605	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	111					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		GCTGCACATAAGTCTGTAGCG	0.507													C	66565325	A	C	66565325	2	2	39	1	0	0	0	0	0	0	0	1	15930	59	3	5		5	TK2	16	66565325	Silent	SNP	A	TCGA-BR-6706-01A-11D-1882-08	8967507	66565325	23789428	190	35548											
MTSS1L	92154	broad.mit.edu	37	chr16	70710872	70710872	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtagtccgagccctttaggtCtttgattacctggacaggga	12	9	1	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr16:70710872C>T	uc002ezj.2	-	10	1002	c.742G>A	c.(742-744)GAC>AAC	p.D248N	MTSS1L_uc002ezk.1_Missense_Mutation_p.D165N	NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	248	IMD.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1						CCCTTTAGGTCTTTGATTACC	0.602													T	70710872	C	T	70710872	3	4	39	1	0	0	0	0	1	0	0	0	9963	913	32	4	1525	4	MTSS1L	16	70710872	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	4145547	70710872	19643881	191	35549											
CTU2	348180	broad.mit.edu	37	chr16	88779164	88779164	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgggggtggtcctggcccGactcaaggggaggaacagcc	18	12	1	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr16:88779164G>A	uc002flm.2	+	7	636	c.588G>A	c.(586-588)CCG>CCA	p.P196P	CTU2_uc002fln.2_Silent_p.P196P|CTU2_uc010chz.2_Silent_p.P267P|CTU2_uc010cia.2_Silent_p.P109P	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	cytoplasmic tRNA 2-thiolation protein 2 isoform	196					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			skin(1)	1						GTCCTGGCCCGACTCAAGGGG	0.687													A	88779164	G	A	88779164	2	1	39	1	0	0	0	0	0	0	0	1	4048	1045	37	1		1	CTU2	16	88779164	Silent	SNP	G	TCGA-BR-6706-01A-11D-1882-08	18068292	88779164	1575589	192	35550											
FAM101B	359845	broad.mit.edu	37	chr17	293034	293034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacagaaacctcctcagcGtcttgcggcagttgtaatcc	10	12	2	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr17:293034G>A	uc002frj.2	-	2	630	c.356C>T	c.(355-357)ACG>ATG	p.T119M		NM_182705	NP_874364	Q8N5W9	F101B_HUMAN	hypothetical protein LOC359845	189											0		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		CCTCCTCAGCGTCTTGCGGCA	0.637													A	293034	G	A	293034	3	1	39	1	0	0	0	0	1	0	0	0	5381	1145	40	1	82	1	FAM101B	17	293034	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08		293034	80902176	193	35551											
CDK12	51755	broad.mit.edu	37	chr17	37619152	37619153	+	Frame_Shift_Ins	INS	-	-	T													cgagaaggcagtcggtcagtINScccccttacaaggagccttc							TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr17:37619151_37619152G>GT	uc010cvv.3	+	0	1413_1414	c.827_828G>GT	c.(826-828)agtfs	p.S276fs	CDK12_uc010wef.1_Frame_Shift_Ins_p.S276fs|CDK12_uc002hrw.4_Frame_Shift_Ins_p.S276fs	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	276					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding	p.S276T(2)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CAGTCGGTCAGTCCCCCTTACA	0.545			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			T	37619153	-	T	37619152	7	5	39	1	0	1	1	0	0	0	0	0	3128	1664	58	0	830	0	CDK12	17	37619152	Frame_Shift_Ins	INS	-	TCGA-BR-6706-01A-11D-1882-08	37326118	37619152	43576058	194	35552											
NXPH3	11248	broad.mit.edu	37	chr17	47656222	47656222	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggctggggcgacttctacTccaacatcaagacggtggcc	12	12	2	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr17:47656222T>G	uc002ipa.2	+	2	603	c.319T>G	c.(319-321)TCC>GCC	p.S107A	NXPH3_uc010wlw.1_Missense_Mutation_p.S107A	NM_007225	NP_009156	O95157	NXPH3_HUMAN	neurexophilin 3 precursor	107	III.				neuropeptide signaling pathway	extracellular region				pancreas(1)|skin(1)	2	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CGACTTCTACTCCAACATCAA	0.592													G	47656222	T	G	47656222	3	3	39	1	0	0	0	0	1	0	0	0	10792	1551	54	5	325	5	NXPH3	17	47656222	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	10037070	47656222	33538988	195	35553											
ABCA6	23460	broad.mit.edu	37	chr17	67087355	67087355	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggtggtaatcaatatacTtaggtcaaaatgattgatta	8	4	2	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr17:67087355T>C	uc002jhw.1	-	26	3632	c.3457A>G	c.(3457-3459)AGT>GGT	p.S1153G		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	1153	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					ATCAATATACTTAGGTCAAAA	0.338													C	67087355	T	C	67087355	3	2	39	1	0	0	0	0	1	0	0	0	36	1609	56	3	1452	3	ABCA6	17	67087355	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	19431133	67087355	14107855	196	35554											
AZI1	22994	broad.mit.edu	37	chr17	79167799	79167799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagctgctcccgcagctcctCggcctggcgcaggcagcgct	13	18	0	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr17:79167799C>T	uc002jzp.1	-	18	2457	c.2257G>A	c.(2257-2259)GAG>AAG	p.E753K	AZI1_uc002jzm.1_Missense_Mutation_p.E180K|AZI1_uc002jzn.1_Missense_Mutation_p.E750K|AZI1_uc002jzo.1_Missense_Mutation_p.E750K|AZI1_uc010wum.1_Missense_Mutation_p.E753K|AZI1_uc002jzq.2_5'UTR	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	753					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGCAGCTCCTCGGCCTGGCGC	0.721													T	79167799	C	T	79167799	3	4	39	1	0	0	0	0	1	0	0	0	1240	893	31	1	1030	1	AZI1	17	79167799	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	12080444	79167799	2027411	197	35555											
C18orf8	29919	broad.mit.edu	37	chr18	21086966	21086966	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagaagtgaagtgcattaAgttttccttagaaaataaga	10	3	0	4			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr18:21086966A>C	uc010xax.1	+	3	333	c.212A>C	c.(211-213)AAG>ACG	p.K71T	C18orf8_uc010xau.1_Intron|C18orf8_uc010xav.1_Missense_Mutation_p.K71T|C18orf8_uc010xaw.1_Intron|C18orf8_uc002kul.2_RNA	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	71										ovary(1)	1	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGTGCATTAAGTTTTCCTTA	0.323													C	21086966	A	C	21086966	3	2	39	1	0	0	0	0	1	0	0	0	1907	72	3	5	222	5	C18orf8	18	21086966	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08		21086966	56990282	198	35556											
ZNF521	25925	broad.mit.edu	37	chr18	22807019	22807019	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtctcctctacgaagagcTcgtggcagtagacacactgg	12	11	2	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr18:22807019T>C	uc002kvk.2	-	4	1110	c.863A>G	c.(862-864)GAG>GGG	p.E288G	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.E288G|ZNF521_uc002kvl.2_Missense_Mutation_p.E68G	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	288	C2H2-type 7.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TACGAAGAGCTCGTGGCAGTA	0.537			T	PAX5	ALL								C	22807019	T	C	22807019	3	2	39	1	0	0	0	0	1	0	0	0	17962	1551	54	3	3092	3	ZNF521	18	22807019	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	1720053	22807019	55270229	199	35557											
PIK3C3	5289	broad.mit.edu	37	chr18	39647433	39647433	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgattgatgagagtgtccatGctctttttgctgcagtggtg	13	6	1	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr18:39647433G>C	uc002lap.2	+	24	2663	c.2605G>C	c.(2605-2607)GCT>CCT	p.A869P	PIK3C3_uc010xcl.1_Missense_Mutation_p.A806P|PIK3C3_uc002laq.2_Missense_Mutation_p.A354P	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	869	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10						GAGTGTCCATGCTCTTTTTGC	0.463										TSP Lung(28;0.18)			C	39647433	G	C	39647433	3	2	39	1	0	0	0	0	1	0	0	0	11912	1319	46	5	2699	5	PIK3C3	18	39647433	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	16840414	39647433	38429815	200	35558											
DCC	1630	broad.mit.edu	37	chr18	50731590	50731590	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatttttttatacagtgcaAgttccagggccagtagaaaa	8	6	0	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr18:50731590A>G	uc002lfe.1	+	10	2165	c.1578A>G	c.(1576-1578)CAA>CAG	p.Q526Q	DCC_uc010xdr.1_Silent_p.Q374Q|DCC_uc010dpf.1_Silent_p.Q181Q	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	526	Extracellular (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATACAGTGCAAGTTCCAGGGC	0.373													G	50731590	A	G	50731590	2	3	39	1	0	0	0	0	0	0	0	1	4282	69	3	3		3	DCC	18	50731590	Silent	SNP	A	TCGA-BR-6706-01A-11D-1882-08	11084157	50731590	27345658	201	35559											
RAX	30062	broad.mit.edu	37	chr18	56936342	56936342	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctcgtccagcgggaacTtgtccccgaagccgggcccg	13	18	0	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr18:56936342T>G	uc002lhx.2	-	3	1122	c.935A>C	c.(934-936)AAG>ACG	p.K312T	RAX_uc010dpp.2_3'UTR	NM_013435	NP_038463	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	312					visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		CAGCGGGAACTTGTCCCCGAA	0.731													G	56936342	T	G	56936342	3	3	39	1	0	0	0	0	1	0	0	0	13096	1609	56	5	109	5	RAX	18	56936342	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	6204752	56936342	21140906	202	35560											
RTTN	25914	broad.mit.edu	37	chr18	67684867	67684867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacttagatgtttatttcctCcttttggcaatgctagagag	8	7	0	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr18:67684867C>T	uc002lkp.2	-	46	6265	c.6197G>A	c.(6196-6198)GGA>GAA	p.G2066E	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.G1154E|RTTN_uc002lkn.2_Missense_Mutation_p.G56E|RTTN_uc010dqp.2_Missense_Mutation_p.G318E	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	2066							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				TTTATTTCCTCCTTTTGGCAA	0.338													T	67684867	C	T	67684867	3	4	39	1	0	0	0	0	1	0	0	0	13737	855	30	4	499	4	RTTN	18	67684867	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	10748525	67684867	10392381	203	35561											
APC2	10297	broad.mit.edu	37	chr19	1465645	1465645	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctgctttgacgacgacgAtgcaccgtcatccctggctg	13	13	1	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr19:1465645A>G	uc002lsr.1	+	15	2553	c.2345A>G	c.(2344-2346)GAT>GGT	p.D782G	APC2_uc002lss.1_Missense_Mutation_p.D364G|APC2_uc002lst.1_Missense_Mutation_p.D782G|APC2_uc002lsu.1_Missense_Mutation_p.D781G|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	782					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACGACGACGATGCACCGTCA	0.711													G	1465645	A	G	1465645	3	3	39	1	0	0	0	0	1	0	0	0	764	333	12	3	2399	3	APC2	19	1465645	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08		1465645	57663338	204	35562											
ARRDC5	645432	broad.mit.edu	37	chr19	4891231	4891231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagtgtgcatgatctcacCgtcctgcgtgctgctgctca	12	13	2	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr19:4891231C>T	uc002mbm.2	-	3	856	c.856G>A	c.(856-858)GGT>AGT	p.G286S		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	286					signal transduction						0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		ATGATCTCACCGTCCTGCGTG	0.617													T	4891231	C	T	4891231	3	4	39	1	0	0	0	0	1	0	0	0	986	652	23	1	176	1	ARRDC5	19	4891231	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	3425586	4891231	54237752	205	35563											
MUC16	94025	broad.mit.edu	37	chr19	9018538	9018538	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaagttgagggtgaAcagcaccaggagagggccag	18	6	0	4			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr19:9018538A>C	uc002mkp.2	-	24	37840	c.37636T>G	c.(37636-37638)TTC>GTC	p.F12546V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12548	SEA 4.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTGAGGGTGAACAGCACCAGG	0.463													C	9018538	A	C	9018538	3	2	39	1	0	0	0	0	1	0	0	0	9973	43	2	5	6131	5	MUC16	19	9018538	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	4127307	9018538	50110445	206	35564											
OR7G1	125962	broad.mit.edu	37	chr19	9226256	9226256	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaggagagattaaagagaaGgaagtacatgggggtgtgga	17	1	0	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr19:9226256G>T	uc002mks.1	-	1	184	c.184C>A	c.(184-186)CTT>ATT	p.L62I		NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G,	62	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						TTAAAGAGAAGGAAGTACATG	0.488													T	9226256	G	T	9226256	3	4	39	1	0	0	0	0	1	0	0	0	11222	1000	35	5	825	5	OR7G1	19	9226256	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	207718	9226256	49902727	207	35565											
ZNF559	84527	broad.mit.edu	37	chr19	9453044	9453044	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taatgaatgtggcaaagaatTtacttgtttctcaaaactca	6	6	2	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr19:9453044T>G	uc002mlg.2	+	7	1564	c.917T>G	c.(916-918)TTT>TGT	p.F306C	ZNF559_uc002mlf.2_Missense_Mutation_p.F75C|ZNF559_uc010dwl.1_Missense_Mutation_p.F75C|ZNF559_uc010xkn.1_Missense_Mutation_p.F298C|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Missense_Mutation_p.F370C|ZNF559_uc010dwk.1_Missense_Mutation_p.F75C|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN	zinc finger protein 559	306	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GGCAAAGAATTTACTTGTTTC	0.368													G	9453044	T	G	9453044	3	3	39	1	0	0	0	0	1	0	0	0	17987	1841	64	5	931	5	ZNF559	19	9453044	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	226788	9453044	49675939	208	35566											
TRMT1	55621	broad.mit.edu	37	chr19	13226979	13226979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtcaggtcccgattgaattCctgcaccgggttataaaaga	10	10	1	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr19:13226979C>T	uc002mwj.2	-	1	485	c.235G>A	c.(235-237)GAA>AAA	p.E79K	NACC1_uc002mwm.2_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.E79K|TRMT1_uc002mwl.3_Missense_Mutation_p.E79K|TRMT1_uc010xmz.1_Intron	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	79							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CGATTGAATTCCTGCACCGGG	0.582													T	13226979	C	T	13226979	3	4	39	1	0	0	0	0	1	0	0	0	16558	864	30	4	1808	4	TRMT1	19	13226979	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	3773935	13226979	45902004	209	35567											
SLC1A6	6511	broad.mit.edu	37	chr19	15079169	15079169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtctcgatccggccctccCggtgcagcccctccttggag	12	17	1	0	rs149934975		TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr19:15079169C>T	uc002naa.1	-	3	502	c.494G>A	c.(493-495)CGG>CAG	p.R165Q	SLC1A6_uc010dzu.1_Missense_Mutation_p.R165Q|SLC1A6_uc010xod.1_Intron|SLC1A6_uc002nab.2_Missense_Mutation_p.R165Q|SLC1A6_uc002nac.2_Missense_Mutation_p.R165Q|SLC1A6_uc002nad.1_Missense_Mutation_p.R165Q	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	165	Extracellular (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	CCGGCCCTCCCGGTGCAGCCC	0.473													T	15079169	C	T	15079169	3	4	39	1	0	0	0	0	1	0	0	0	14436	652	23	1	1228	1	SLC1A6	19	15079169	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	1852190	15079169	44049814	210	35568											
OR10H1	26539	broad.mit.edu	37	chr19	15918794	15918795	+	Frame_Shift_Del	DEL	AG	AG	-													agctggaggtgggggaagacAgagaagccgacgaggatgaa							TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr19:15918793_15918794CAG>C	uc002nbq.2	-	0	143_144	c.54_55CTG>G	c.(52-57)tctgtcfs	p.S18fs		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TGGGGGAAGACAGAGAAGCCGA	0.569													-	15918795	AG	-	15918794	7	5	39	1	0	1	0	1	0	0	0	0	10905	175	7	0	906	0	OR10H1	19	15918794	Frame_Shift_Del	DEL	AG	TCGA-BR-6706-01A-11D-1882-08	839625	15918794	43210189	211	35569											
CYP4F2	8529	broad.mit.edu	37	chr19	15989663	15989663	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcggggctcggtgtggTcaggcaggacgcggaagcgc	19	11	1	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr19:15989663T>G	uc002nbs.1	-	13	1531	c.1481A>C	c.(1480-1482)GAC>GCC	p.D494A	CYP4F2_uc010xot.1_Missense_Mutation_p.D345A	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	494					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2						CTCGGTGTGGTCAGGCAGGAC	0.677													G	15989663	T	G	15989663	3	3	39	1	0	0	0	0	1	0	0	0	4188	1667	58	5	85	5	CYP4F2	19	15989663	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	70869	15989663	43139320	212	35570											
JAK3	3718	broad.mit.edu	37	chr19	17951088	17951088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagtcctgggggctgcggCggagaacataggagccagga	17	9	0	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr19:17951088C>T	uc002nhn.3	-	9	1305	c.1205G>A	c.(1204-1206)CGC>CAC	p.R402H	JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.R402H|JAK3_uc010xpx.1_Missense_Mutation_p.R402H	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	402	SH2; atypical.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						GGGGCTGCGGCGGAGAACATA	0.483		2	Mis		acute megakaryocytic leukemia|								T	17951088	C	T	17951088	3	4	39	1	0	0	0	0	1	0	0	0	7939	768	27	1	2233	1	JAK3	19	17951088	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	1961425	17951088	41177895	213	35571											
ISYNA1	51477	broad.mit.edu	37	chr19	18547246	18547246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgactttgtccagccccGcgctagaccggaagtctcgg	11	14	1	2	rs138096546		TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr19:18547246G>A	uc002njd.1	-	6	703	c.653C>T	c.(652-654)GCG>GTG	p.A218V	ISYNA1_uc002nja.1_Missense_Mutation_p.A90V|ISYNA1_uc002njb.1_Missense_Mutation_p.A136V|ISYNA1_uc002njc.1_Missense_Mutation_p.A68V|ISYNA1_uc010xqh.1_Missense_Mutation_p.A16V|ISYNA1_uc002nje.1_Missense_Mutation_p.A164V|ISYNA1_uc002njf.1_Missense_Mutation_p.A68V	NM_016368	NP_057452	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	218					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			ovary(1)|pancreas(1)	2						GTCCAGCCCCGCGCTAGACCG	0.607													A	18547246	G	A	18547246	3	1	39	1	0	0	0	0	1	0	0	0	7867	1087	38	1	1047	1	ISYNA1	19	18547246	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	596158	18547246	40581737	214	35572											
ZNF536	9745	broad.mit.edu	37	chr19	31040061	31040061	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cctccaagggggagaacaacGatgaagaggatgttgaaacc	13	8	0	4			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr19:31040061G>T	uc002nsu.1	+	4	3673	c.3535G>T	c.(3535-3537)GAT>TAT	p.D1179Y	ZNF536_uc010edd.1_Missense_Mutation_p.D1179Y	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GGAGAACAACGATGAAGAGGA	0.557													T	31040061	G	T	31040061	3	4	39	1	0	0	0	0	1	0	0	0	17971	1058	37	5	3545	5	ZNF536	19	31040061	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	12492815	31040061	28088922	215	35573											
ZNF570	148268	broad.mit.edu	37	chr19	37976066	37976066	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcagcatgcacaccttgcTcatcaccagagaattcacat	7	13	3	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr19:37976066T>C	uc002ogk.1	+	5	2071	c.1542T>C	c.(1540-1542)GCT>GCC	p.A514A	ZNF570_uc010efl.1_Silent_p.A570A|ZNF570_uc010xtr.1_Silent_p.A311A	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	zinc finger protein 570	514	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACACCTTGCTCATCACCAGA	0.299													C	37976066	T	C	37976066	2	2	39	1	0	0	0	0	0	0	0	1	17999	1538	54	3		3	ZNF570	19	37976066	Silent	SNP	T	TCGA-BR-6706-01A-11D-1882-08	6936005	37976066	21152917	216	35574											
SPINT2	10653	broad.mit.edu	37	chr19	38779813	38779813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attctgaagaccactccagcGatatgttcaactatgaaggt	8	9	2	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr19:38779813G>A	uc002ohr.1	+	4	704	c.373G>A	c.(373-375)GAT>AAT	p.D125N	SPINT2_uc002ohs.1_Missense_Mutation_p.D68N	NM_021102	NP_066925	O43291	SPIT2_HUMAN	serine protease inhibitor, Kunitz type, 2	125	Extracellular (Potential).				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity				0	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCACTCCAGCGATATGTTCAA	0.338													A	38779813	G	A	38779813	3	1	39	1	0	0	0	0	1	0	0	0	15068	1058	37	1	387	1	SPINT2	19	38779813	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	803747	38779813	20349170	217	35575											
ATP1A3	478	broad.mit.edu	37	chr19	42479939	42479939	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccatccccggtcacagccAcaattgcaccctggagggag	10	16	1	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr19:42479939A>G	uc002osg.2	-	16	2259	c.2105T>C	c.(2104-2106)GTG>GCG	p.V702A	ATP1A3_uc010xwf.1_Missense_Mutation_p.V713A|ATP1A3_uc010xwg.1_Missense_Mutation_p.V672A|ATP1A3_uc010xwh.1_Missense_Mutation_p.V715A|ATP1A3_uc002osh.2_Missense_Mutation_p.V702A	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	702	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						GGTCACAGCCACAATTGCACC	0.438													G	42479939	A	G	42479939	3	3	39	1	0	0	0	0	1	0	0	0	1130	159	6	3	968	3	ATP1A3	19	42479939	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	3700126	42479939	16649044	218	35576											
TRPM4	54795	broad.mit.edu	37	chr19	49705384	49705384	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcctgctggtcaacttgctCattgccatgttcaggtgagg	11	10	3	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr19:49705384C>T	uc002pmw.2	+	20	3189	c.3117C>T	c.(3115-3117)CTC>CTT	p.L1039L	TRPM4_uc010emu.2_Silent_p.L894L|TRPM4_uc010yak.1_Silent_p.L503L|TRPM4_uc002pmx.2_Silent_p.L865L|TRPM4_uc010emv.2_Silent_p.L924L|TRPM4_uc010yal.1_Silent_p.L685L|TRPM4_uc002pmy.2_Silent_p.L381L	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	1039	Helical; (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCAACTTGCTCATTGCCATGT	0.582													T	49705384	C	T	49705384	2	4	39	1	0	0	0	0	0	0	0	1	16585	813	29	4		4	TRPM4	19	49705384	Silent	SNP	C	TCGA-BR-6706-01A-11D-1882-08	7225445	49705384	9423599	219	35577											
POLD1	5424	broad.mit.edu	37	chr19	50910659	50910659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acacgggagccactgtcatcGagcccctcaaagggtgaggc	13	13	2	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr19:50910659G>A	uc002psb.3	+	14	1818	c.1762G>A	c.(1762-1764)GAG>AAG	p.E588K	POLD1_uc002psc.3_Missense_Mutation_p.E588K|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.E588K	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	588					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CACTGTCATCGAGCCCCTCAA	0.403								DNA_polymerases_(catalytic_subunits)					A	50910659	G	A	50910659	3	1	39	1	0	0	0	0	1	0	0	0	12190	1059	37	1	1812	1	POLD1	19	50910659	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	1205275	50910659	8218324	220	35578											
ZNF610	162963	broad.mit.edu	37	chr19	52857592	52857592	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcaagttaaaatagtaaaAaatacagatggaagggaatg	10	2	1	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr19:52857592A>C	uc002pyx.3	+	5	685	c.279A>C	c.(277-279)AAA>AAC	p.K93N	ZNF610_uc002pyy.3_Missense_Mutation_p.K93N|ZNF610_uc002pyz.3_Intron|ZNF610_uc002pza.2_Missense_Mutation_p.K93N	NM_001161426	NP_001154898	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610 isoform a	93	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AAATAGTAAAAAATACAGATG	0.353													C	52857592	A	C	52857592	3	2	39	1	0	0	0	0	1	0	0	0	18033	11	1	5	289	5	ZNF610	19	52857592	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	1946933	52857592	6271391	221	35579											
ZNF347	84671	broad.mit.edu	37	chr19	53645784	53645784	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttccctttgtgtagtaaatcTttcattacaaattcggaaga	6	7	2	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr19:53645784T>A	uc002qbb.1	-	5	366	c.297A>T	c.(295-297)AAA>AAT	p.K99N	ZNF347_uc010eql.1_Missense_Mutation_p.K100N|ZNF347_uc002qbc.1_Missense_Mutation_p.K100N	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		GTAGTAAATCTTTCATTACAA	0.353													A	53645784	T	A	53645784	3	1	39	1	0	0	0	0	1	0	0	0	17858	1606	56	5	2226	5	ZNF347	19	53645784	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	788192	53645784	5483199	222	35580											
KIR2DL1	3802	broad.mit.edu	37	chr19	55284967	55284967	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atggggtctccaaggccaacTtctccatcagtcgcatgacg	10	13	3	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr19:55284967T>G	uc002qhb.1	+	3	291	c.253T>G	c.(253-255)TTC>GTC	p.F85V	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.F85V	NM_014218	NP_055033	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two	85	Extracellular (Potential).|Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		CAAGGCCAACTTCTCCATCAG	0.522													G	55284967	T	G	55284967	3	3	39	1	0	0	0	0	1	0	0	0	8316	1609	56	5	263	5	KIR2DL1	19	55284967	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	1639183	55284967	3844016	223	35581											
NLRP9	338321	broad.mit.edu	37	chr19	56243496	56243496	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccaatataaatgaaaacTtcttcaaagaaattcatcac	2	8	4	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr19:56243496T>G	uc002qly.2	-	2	1729	c.1701A>C	c.(1699-1701)GAA>GAC	p.E567D		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	567						cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAATGAAAACTTCTTCAAAGA	0.348													G	56243496	T	G	56243496	3	3	39	1	0	0	0	0	1	0	0	0	10484	1606	56	5	1306	5	NLRP9	19	56243496	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	958529	56243496	2885487	224	35582											
PEG3	5178	broad.mit.edu	37	chr19	57326873	57326873	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgaggtcagagctatgAgcaaagcactccccacactc	9	13	2	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr19:57326873A>G	uc002qnu.2	-	7	3288	c.2937T>C	c.(2935-2937)GCT>GCC	p.A979A	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.A950A|PEG3_uc002qnv.2_Silent_p.A979A|PEG3_uc002qnw.2_Silent_p.A855A|PEG3_uc002qnx.2_Silent_p.A853A|PEG3_uc010etr.2_Silent_p.A979A	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	979	C2H2-type 5.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGAGCTATGAGCAAAGCACT	0.493													G	57326873	A	G	57326873	2	3	39	1	0	0	0	0	0	0	0	1	11720	291	11	3		3	PEG3	19	57326873	Silent	SNP	A	TCGA-BR-6706-01A-11D-1882-08	1083377	57326873	1802110	225	35583											
RBCK1	10616	broad.mit.edu	37	chr20	402813	402813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaacagccaggaggcggaGgtctcctgccccttcattga	12	14	2	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr20:402813G>A	uc002wdp.3	+	8	1653	c.960G>A	c.(958-960)GAG>GAA	p.E320E	RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Silent_p.E278E|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Silent_p.E150E	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing	320	RING-type.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				AGGAGGCGGAGGTCTCCTGCC	0.607													A	402813	G	A	402813	2	1	39	1	0	0	0	0	0	0	0	1	13107	991	35	4		4	RBCK1	20	402813	Silent	SNP	G	TCGA-BR-6706-01A-11D-1882-08		402813	62622707	226	35584											
SSTR4	6754	broad.mit.edu	37	chr20	23016968	23016968	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtgcagctgctgaaccTcttcgtgaccagccttgatg	12	12	1	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr20:23016968T>G	uc002wsr.2	+	1	912	c.848T>G	c.(847-849)CTC>CGC	p.L283R		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	283	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTGCTGAACCTCTTCGTGACC	0.567													G	23016968	T	G	23016968	3	3	39	1	0	0	0	0	1	0	0	0	15199	1551	54	5	850	5	SSTR4	20	23016968	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	22614155	23016968	40008552	227	35585											
NAPB	63908	broad.mit.edu	37	chr20	23383641	23383641	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtacataccactccaatttTtagccatcttgaacatattt	3	10	1	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr20:23383641T>C	uc002wta.2	-	2	284	c.167A>G	c.(166-168)AAA>AGA	p.K56R	NAPB_uc002wtc.2_5'UTR|NAPB_uc002wtb.2_Missense_Mutation_p.K56R|NAPB_uc002wtd.3_RNA|NAPB_uc010zst.1_Missense_Mutation_p.K56R	NM_022080	NP_071363	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment	56					intracellular protein transport|vesicle-mediated transport	membrane				ovary(1)	1	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					ACTCCAATTTTTAGCCATCTT	0.333													C	23383641	T	C	23383641	3	2	39	1	0	0	0	0	1	0	0	0	10162	1841	64	3	769	3	NAPB	20	23383641	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	366673	23383641	39641879	228	35586											
DLGAP4	22839	broad.mit.edu	37	chr20	35064645	35064645	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccatgggcgacgaggacaGcgacgagtccggcggcagcc	18	13	0	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr20:35064645G>C	uc002xff.2	+	4	1568	c.1133G>C	c.(1132-1134)AGC>ACC	p.S378T	DLGAP4_uc010zvp.1_Missense_Mutation_p.S378T	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	378					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GACGAGGACAGCGACGAGTCC	0.711													C	35064645	G	C	35064645	3	2	39	1	0	0	0	0	1	0	0	0	4562	971	34	5	1139	5	DLGAP4	20	35064645	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	11681004	35064645	27960875	229	35587											
VSTM2L	128434	broad.mit.edu	37	chr20	36572448	36572448	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgggtgaagcccacggaCgaaggcacctacgagtgccg	14	14	0	1	rs150645578		TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr20:36572448C>T	uc002xhk.3	+	4	662	c.408C>T	c.(406-408)GAC>GAT	p.D136D		NM_080607	NP_542174	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	136	Ig-like.									ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.00878)				AGCCCACGGACGAAGGCACCT	0.652													T	36572448	C	T	36572448	2	4	39	1	0	0	0	0	0	0	0	1	17227	535	19	1		1	VSTM2L	20	36572448	Silent	SNP	C	TCGA-BR-6706-01A-11D-1882-08	1507803	36572448	26453072	230	35588											
PTPRT	11122	broad.mit.edu	37	chr20	40739009	40739009	+	Frame_Shift_Del	DEL	T	T	-													tgggcccagcttccggggggTtgaggaacttgacctggcgg							TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr20:40739008_40739008GT>G	uc002xkg.3	-	22	3403	c.3219_3219AC>C	c.(3217-3219)aacfs	p.N1073fs	PTPRT_uc010ggj.3_Frame_Shift_Del_p.N1092fs|PTPRT_uc010ggi.3_Frame_Shift_Del_p.N276fs	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1073	Tyrosine-protein phosphatase 1.				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			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTTCCGGGGGGTTGAGGAACT	0.627													-	40739009	T	-	40739009	7	5	39	1	0	1	0	1	0	0	0	0	12812	1725	60	0	1143	0	PTPRT	20	40739009	Frame_Shift_Del	DEL	T	TCGA-BR-6706-01A-11D-1882-08	4166561	40739009	22286511	231	35589											
PREX1	57580	broad.mit.edu	37	chr20	47267989	47267989	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgatcttctccagcacatggCacctgacgcctgccgtgctc	9	17	2	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr20:47267989C>A	uc002xtw.1	-	22	2623	c.2600G>T	c.(2599-2601)TGC>TTC	p.C867F	PREX1_uc002xtv.1_Missense_Mutation_p.C164F	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	867					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CAGCACATGGCACCTGACGCC	0.637													A	47267989	C	A	47267989	3	1	39	1	0	0	0	0	1	0	0	0	12476	710	25	5	2455	5	PREX1	20	47267989	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	6528980	47267989	15757531	232	35590											
SALL4	57167	broad.mit.edu	37	chr20	50406626	50406626	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcatcgggagactttgacTtgatgctttcggcttgacta	11	9	0	4			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr20:50406626T>C	uc002xwh.3	-	2	2497	c.2396A>G	c.(2395-2397)AAG>AGG	p.K799R	SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	799					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						AGACTTTGACTTGATGCTTTC	0.512													C	50406626	T	C	50406626	3	2	39	1	0	0	0	0	1	0	0	0	13813	1609	56	3	777	3	SALL4	20	50406626	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	3138637	50406626	12618894	233	35591											
CASS4	57091	broad.mit.edu	37	chr20	55027707	55027707	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catagaagaatctgtaagagAatttctggattttgcccgag	10	6	2	3	rs145762733		TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr20:55027707A>T	uc002xxp.2	+	6	1700	c.1475A>T	c.(1474-1476)GAA>GTA	p.E492V	CASS4_uc002xxq.3_Missense_Mutation_p.E492V|CASS4_uc002xxr.2_Missense_Mutation_p.E492V|CASS4_uc010zze.1_Missense_Mutation_p.E438V|CASS4_uc010gio.2_Intron	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	492					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						TCTGTAAGAGAATTTCTGGAT	0.478													T	55027707	A	T	55027707	3	4	39	1	0	0	0	0	1	0	0	0	2683	246	9	5	1493	5	CASS4	20	55027707	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	4621081	55027707	7997813	234	35592											
CDH26	60437	broad.mit.edu	37	chr20	58564160	58564160	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcaataaagaggagggcGccaggcctgggaccctgttg	15	9	1	1	rs143325825		TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr20:58564160G>T	uc002ybe.2	+	9	1525	c.1225G>T	c.(1225-1227)GCC>TCC	p.A409S	CDH26_uc002ybf.1_5'UTR|CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	409	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AGAGGAGGGCGCCAGGCCTGG	0.557													T	58564160	G	T	58564160	3	4	39	1	0	0	0	0	1	0	0	0	3110	1087	38	5	1259	5	CDH26	20	58564160	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	3536453	58564160	4461360	235	35593											
LIPI	149998	broad.mit.edu	37	chr21	15561478	15561478	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaattacattcatatcttcTtcattcagcaaaatccttac	1	11	5	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr21:15561478T>C	uc002yjm.2	-	2	382	c.372A>G	c.(370-372)GAA>GAG	p.E124E	LIPI_uc010gkw.1_Silent_p.E57E	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	lipase, member I	103					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			ovary(2)	2				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TCATATCTTCTTCATTCAGCA	0.388													C	15561478	T	C	15561478	2	2	39	1	0	0	0	0	0	0	0	1	8825	1606	56	3		3	LIPI	21	15561478	Silent	SNP	T	TCGA-BR-6706-01A-11D-1882-08		15561478	32568417	236	35594											
ADAMTS5	11096	broad.mit.edu	37	chr21	28296442	28296442	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggacatccttttgctaacTtccggtttccatcctggcac	8	13	0	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr21:28296442T>G	uc002ymg.2	-	8	3452	c.2723A>C	c.(2722-2724)AAG>ACG	p.K908T		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	908	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						TTTTGCTAACTTCCGGTTTCC	0.522													G	28296442	T	G	28296442	3	3	39	1	0	0	0	0	1	0	0	0	269	1609	56	5	73	5	ADAMTS5	21	28296442	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	12734964	28296442	19833453	237	35595											
TIAM1	7074	broad.mit.edu	37	chr21	32638350	32638350	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgttttagctcttctgccTtgcatgctgttgctatggct	10	9	2	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr21:32638350T>G	uc002yow.1	-	5	1411	c.939A>C	c.(937-939)CAA>CAC	p.Q313H	TIAM1_uc011adk.1_Missense_Mutation_p.Q313H|TIAM1_uc011adl.1_Missense_Mutation_p.Q313H|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	313					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CTCTTCTGCCTTGCATGCTGT	0.408													G	32638350	T	G	32638350	3	3	39	1	0	0	0	0	1	0	0	0	15887	1606	56	5	3936	5	TIAM1	21	32638350	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	4341908	32638350	15491545	238	35596											
CECR1	51816	broad.mit.edu	37	chr22	17688091	17688091	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgatcccccttggggtgaAacagatgtggcagtgaggcc	14	10	0	4			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr22:17688091A>C	uc002zmk.1	-	2	624	c.412T>G	c.(412-414)TTC>GTC	p.F138V	CECR1_uc010gqu.1_Missense_Mutation_p.F138V|CECR1_uc011agi.1_Missense_Mutation_p.F96V|CECR1_uc011agj.1_Missense_Mutation_p.F96V	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	cat eye syndrome critical region protein 1	138	PRB domain.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			ovary(1)	1		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CTTGGGGTGAAACAGATGTGG	0.537													C	17688091	A	C	17688091	3	2	39	1	0	0	0	0	1	0	0	0	3205	14	1	5	1189	5	CECR1	22	17688091	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08		17688091	33616475	239	35597											
GNAZ	2781	broad.mit.edu	37	chr22	23437912	23437912	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcaaagctcagaggaaaaAgaagcagcccggcggtcccg	14	12	1	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr22:23437912A>C	uc002zwu.1	+	2	567	c.30A>C	c.(28-30)AAA>AAC	p.K10N	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	10						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CAGAGGAAAAAGAAGCAGCCC	0.637													C	23437912	A	C	23437912	3	2	39	1	0	0	0	0	1	0	0	0	6514	69	3	5	32	5	GNAZ	22	23437912	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	5749821	23437912	27866654	240	35598											
ZNRF3	84133	broad.mit.edu	37	chr22	29445296	29445296	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cggccgcgtgcacaggaccaAcgccatcccagcctacccta	9	19	0	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr22:29445296A>T	uc003aeg.2	+	8	992	c.827A>T	c.(826-828)AAC>ATC	p.N276I	ZNRF3_uc003aeh.1_Missense_Mutation_p.N276I	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	376	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1						CACAGGACCAACGCCATCCCA	0.647													T	29445296	A	T	29445296	3	4	39	1	0	0	0	0	1	0	0	0	18210	43	2	5	853	5	ZNRF3	22	29445296	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	6007384	29445296	21859270	241	35599											
EFCAB6	64800	broad.mit.edu	37	chr22	44063009	44063009	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taaagtcatgcacgttaattTttccattaggctccttgctg	7	9	1	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr22:44063009T>A	uc003bdy.1	-	17	2173	c.1958A>T	c.(1957-1959)AAA>ATA	p.K653I	EFCAB6_uc003bdz.1_Missense_Mutation_p.K501I|EFCAB6_uc010gzi.1_Missense_Mutation_p.K501I|EFCAB6_uc010gzj.1_5'UTR|EFCAB6_uc010gzk.1_RNA	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	653	EF-hand 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				CACGTTAATTTTTCCATTAGG	0.373													A	44063009	T	A	44063009	3	1	39	1	0	0	0	0	1	0	0	0	4939	1841	64	5	2611	5	EFCAB6	22	44063009	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	14617713	44063009	7241557	242	35600											
PKDREJ	10343	broad.mit.edu	37	chr22	46655349	46655349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggatggaatggatgtcccCcaagtcactttttgtcgtta	10	9	1	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chr22:46655349C>T	uc003bhh.2	-	1	3871	c.3871G>A	c.(3871-3873)GGG>AGG	p.G1291R		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1291	Cytoplasmic (Potential).|PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGGATGTCCCCCAAGTCACTT	0.463													T	46655349	C	T	46655349	3	4	39	1	0	0	0	0	1	0	0	0	11970	623	22	4	2894	4	PKDREJ	22	46655349	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	2592340	46655349	4649217	243	35601											
WWC3	55841	broad.mit.edu	37	chrX	10047829	10047829	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagtacaaagaaaagggggTggagaccctgcaagagtgag	16	6	0	4			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chrX:10047829T>C	uc004csx.3	+	5	560	c.362T>C	c.(361-363)GTG>GCG	p.V121A	WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	121	Potential.									ovary(4)	4						GAAAAGGGGGTGGAGACCCTG	0.428													C	10047829	T	C	10047829	3	2	39	1	0	0	0	0	1	0	0	0	17410	1696	59	3	376	3	WWC3	23	10047829	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08		10047829	145222731	244	35602											
GRPR	2925	broad.mit.edu	37	chrX	16142269	16142269	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acatcactttgatcaagatcTtctgtacagtcaagtccatg	6	10	5	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chrX:16142269T>G	uc004cxj.2	+	1	846	c.193T>G	c.(193-195)TTC>GTC	p.F65V		NM_005314	NP_005305	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	65	Cytoplasmic (Potential).				cell proliferation	integral to plasma membrane	bombesin receptor activity			ovary(3)|lung(1)	4	Hepatocellular(33;0.183)					GATCAAGATCTTCTGTACAGT	0.493											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	16142269	T	G	16142269	3	3	39	1	0	0	0	0	1	0	0	0	6808	1609	56	5	195	5	GRPR	23	16142269	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	6094440	16142269	139128291	245	35603											
REPS2	9185	broad.mit.edu	37	chrX	17080602	17080602	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtcaattatttgattctTattctgagtcactgccggca	7	9	4	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chrX:17080602T>C	uc004cxv.1	+	9	1327	c.1156T>C	c.(1156-1158)TAT>CAT	p.Y386H	REPS2_uc004cxw.1_Missense_Mutation_p.Y385H|REPS2_uc011miw.1_Missense_Mutation_p.Y245H	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	386					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			skin(2)|central_nervous_system(1)	3	Hepatocellular(33;0.183)					ATTTGATTCTTATTCTGAGTC	0.353													C	17080602	T	C	17080602	3	2	39	1	0	0	0	0	1	0	0	0	13229	1754	61	3	1190	3	REPS2	23	17080602	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	938333	17080602	138189958	246	35604											
MAOB	4129	broad.mit.edu	37	chrX	43662581	43662581	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catccattgtcctccaaaagTtgttatgatctaagtaggta	7	8	1	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chrX:43662581T>G	uc004dfz.3	-	4	526	c.350A>C	c.(349-351)AAC>ACC	p.N117T	MAOB_uc011mkx.1_Missense_Mutation_p.N101T|MAOB_uc011mky.1_Missense_Mutation_p.N101T	NM_000898	NP_000889	P27338	AOFB_HUMAN	monoamine oxidase B	117	Cytoplasmic.				xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			ovary(1)|central_nervous_system(1)	2					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	CCTCCAAAAGTTGTTATGATC	0.373													G	43662581	T	G	43662581	3	3	39	1	0	0	0	0	1	0	0	0	9226	1725	60	5	1260	5	MAOB	23	43662581	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	26581979	43662581	111607979	247	35605											
ZNF630	57232	broad.mit.edu	37	chrX	47918755	47918755	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtataattagatgtgacTtctgggagaaagcttttgga	12	3	1	3			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chrX:47918755T>G	uc004div.3	-	5	1328	c.1076A>C	c.(1075-1077)AAG>ACG	p.K359T	ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.K235T	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	zinc finger protein 630	359	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|lung(1)	2						TAGATGTGACTTCTGGGAGAA	0.428													G	47918755	T	G	47918755	3	3	39	1	0	0	0	0	1	0	0	0	18051	1609	56	5	901	5	ZNF630	23	47918755	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	4256174	47918755	107351805	248	35606											
FAM123B	139285	broad.mit.edu	37	chrX	63412453	63412453	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttctggtgttggagaaacTtttggcccaggggcatcttg	15	7	2	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chrX:63412453T>C	uc004dvo.2	-	2	987	c.714A>G	c.(712-714)AAA>AAG	p.K238K		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	238					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						TTGGAGAAACTTTTGGCCCAG	0.532													C	63412453	T	C	63412453	2	2	39	1	0	0	0	0	0	0	0	1	5423	1606	56	3		3	FAM123B	23	63412453	Silent	SNP	T	TCGA-BR-6706-01A-11D-1882-08	15493698	63412453	91858107	249	35607											
KIAA2022	340533	broad.mit.edu	37	chrX	73961294	73961294	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctttgctggatcaccagcTtagggctgcaatgggccagg	14	10	1	0			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chrX:73961294T>G	uc004eby.2	-	3	3715	c.3098A>C	c.(3097-3099)AAG>ACG	p.K1033T		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1033					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						GATCACCAGCTTAGGGCTGCA	0.468													G	73961294	T	G	73961294	3	3	39	1	0	0	0	0	1	0	0	0	8269	1609	56	5	1460	5	KIAA2022	23	73961294	Missense_Mutation	SNP	T	TCGA-BR-6706-01A-11D-1882-08	10548841	73961294	81309266	250	35608											
TAF9B	51616	broad.mit.edu	37	chrX	77387203	77387205	+	In_Frame_Del	DEL	AAG	AAG	-													gaaaccatgttggtggtaatAagaatatttttgggcccaat							TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chrX:77387202_77387204TAAG>T	uc004eda.3	-	6	730_732	c.659_661CTTA>A	c.(658-663)cttatt>cAtt	p.220_221LI>H		NM_015975	NP_057059	Q9HBM6	TAF9B_HUMAN	Homo sapiens TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa (TAF9B), mRNA.	220					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						TTGGTGGTAATAAGAATATTTTT	0.384													-	77387205	AAG	-	77387203	7	5	39	1	0	1	0	1	0	0	0	0	15533	349	13	0	99	0	TAF9B	23	77387203	In_Frame_Del	DEL	AAG	TCGA-BR-6706-01A-11D-1882-08	3425909	77387203	77883357	251	35609											
TRPC5	7224	broad.mit.edu	37	chrX	111022219	111022219	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgattaaattaccttaaaAttttcttctgtaagtccctc	3	9	2	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chrX:111022219A>C	uc004epl.1	-	10	3145	c.2226T>G	c.(2224-2226)AAT>AAG	p.N742K		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	742	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						TTACCTTAAAATTTTCTTCTG	0.313													C	111022219	A	C	111022219	3	2	39	1	0	0	0	0	1	0	0	0	16579	98	4	5	703	5	TRPC5	23	111022219	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	33635016	111022219	44248341	252	35610											
USP26	83844	broad.mit.edu	37	chrX	132160633	132160633	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaaatatttggaaatgatgActtcctggtcattcttcttt	6	6	3	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chrX:132160633A>C	uc010nrm.1	-	6	2086	c.1616T>G	c.(1615-1617)GTC>GGC	p.V539G	USP26_uc011mvf.1_Missense_Mutation_p.V539G	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	539					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					GGAAATGATGACTTCCTGGTC	0.398													C	132160633	A	C	132160633	3	2	39	1	0	0	0	0	1	0	0	0	17054	275	10	5	1128	5	USP26	23	132160633	Missense_Mutation	SNP	A	TCGA-BR-6706-01A-11D-1882-08	21138414	132160633	23109927	253	35611											
ARHGEF6	9459	broad.mit.edu	37	chrX	135825841	135825841	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcttcaactcgtgtgacGtaaatgatgtcccccttaca	6	13	2	2			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chrX:135825841G>A	uc004fab.2	-	5	1026	c.564C>T	c.(562-564)TAC>TAT	p.Y188Y	ARHGEF6_uc011mwd.1_Silent_p.Y34Y|ARHGEF6_uc011mwe.1_Silent_p.Y34Y	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	188	SH3.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					CTCGTGTGACGTAAATGATGT	0.423													A	135825841	G	A	135825841	2	1	39	1	0	0	0	0	0	0	0	1	910	1140	40	1		1	ARHGEF6	23	135825841	Silent	SNP	G	TCGA-BR-6706-01A-11D-1882-08	3665208	135825841	19444719	254	35612											
L1CAM	3897	broad.mit.edu	37	chrX	153134383	153134383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtacgtctgattgtccGcagtcaggatcttggctggc	12	11	3	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chrX:153134383G>A	uc004fjb.2	-	11	1400	c.1292C>T	c.(1291-1293)GCG>GTG	p.A431V	L1CAM_uc004fjc.2_Missense_Mutation_p.A431V|L1CAM_uc010nuo.2_Missense_Mutation_p.A426V|L1CAM_uc004fjd.1_Missense_Mutation_p.A245V	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	431	Extracellular (Potential).|Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGATTGTCCGCAGTCAGGAT	0.617													A	153134383	G	A	153134383	3	1	39	1	0	0	0	0	1	0	0	0	8588	1087	38	1	2553	1	L1CAM	23	153134383	Missense_Mutation	SNP	G	TCGA-BR-6706-01A-11D-1882-08	17308542	153134383	2136177	255	35613											
ARHGAP4	393	broad.mit.edu	37	chrX	153176006	153176006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaccaccagcaccggcgCgggcagccgccacagcaggc	13	18	0	1			TCGA-BR-6706-01A-11D-1882-08	TCGA-BR-6706-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ef4abd-e2b5-477c-9853-ac828578ba3f	85807506-a71e-46b6-b09d-26e8ec73ac1d	g.chrX:153176006C>T	uc004fjk.1	-	16	1918	c.1876G>A	c.(1876-1878)GCG>ACG	p.A626T	ARHGAP4_uc004fjj.1_5'UTR|ARHGAP4_uc011mzf.1_Missense_Mutation_p.A603T|ARHGAP4_uc004fjl.1_Missense_Mutation_p.A666T|ARHGAP4_uc010nup.1_Intron	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2	626	Rho-GAP.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCACCGGCGCGGGCAGCCGC	0.711													T	153176006	C	T	153176006	3	4	39	1	0	0	0	0	1	0	0	0	885	768	27	1	992	1	ARHGAP4	23	153176006	Missense_Mutation	SNP	C	TCGA-BR-6706-01A-11D-1882-08	41623	153176006	2094554	256	35614											
ARID1A	8289	broad.mit.edu	37	chr1	27101593	27101593	+	Frame_Shift_Del	DEL	A	A	-													ccagtacctgcctcgcacatAgcacctgcccctgtgcagcc							TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr1:27101593delA	uc001bmv.1	+	18	5248	c.4875delA	c.(4873-4875)ATAfs	p.I1625fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.I1624fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.I1408fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.I1242fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.I471fs|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_Translation_Start_Site	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1625					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTCGCACATAGCACCTGCCC	0.602			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								-	27101593	A	-	27101593	7	5	40	1	0	1	0	1	0	0	0	0	913	410	15	0	4945	0	ARID1A	1	27101593	Frame_Shift_Del	DEL	A	TCGA-BR-6707-01A-11D-1882-08		27101593	222149028	1	35615											
MSH4	4438	broad.mit.edu	37	chr1	76282161	76282161	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agatttgtttccagggtagtGaacagacagccatgatagat	11	6	0	5			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr1:76282161G>T	uc001dhd.1	+	6	960	c.919G>T	c.(919-921)GAA>TAA	p.E307*		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	307					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			lung(3)|ovary(2)	5						CCAGGGTAGTGAACAGACAGC	0.318								MMR					T	76282161	G	T	76282161	4	4	40	1	0	0	0	0	0	1	0	0	9872	1291	45	5	941	5	MSH4	1	76282161	Nonsense_Mutation	SNP	G	TCGA-BR-6707-01A-11D-1882-08	49180568	76282161	172968460	2	35616											
SORT1	6272	broad.mit.edu	37	chr1	109870142	109870142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagcaatgacaatgcctaCggcattcggctctgagagtg	12	9	1	3			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr1:109870142C>T	uc001dxm.1	-	12	1502	c.1453G>A	c.(1453-1455)GTA>ATA	p.V485I	SORT1_uc010ovi.1_Missense_Mutation_p.V348I	NM_002959	NP_002950	Q99523	SORT_HUMAN	sortilin 1 preproprotein	485	Extracellular (Potential).				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			ovary(1)	1		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ACAATGCCTACGGCATTCGGC	0.498													T	109870142	C	T	109870142	3	4	40	1	0	0	0	0	1	0	0	0	14935	536	19	1	1078	1	SORT1	1	109870142	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08	33587981	109870142	139380479	3	35617											
FCRL5	83416	broad.mit.edu	37	chr1	157485636	157485636	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggggagactcaccttgTtcctgagatgcctggggtca	14	9	2	3			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr1:157485636T>C	uc001fqu.2	-	16	2998	c.2840A>G	c.(2839-2841)AAC>AGC	p.N947S	FCRL5_uc009wsm.2_Missense_Mutation_p.T944A	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	947	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACTCACCTTGTTCCTGAGATG	0.602													C	157485636	T	C	157485636	3	2	40	1	0	0	0	0	1	0	0	0	5798	1725	60	3	101	3	FCRL5	1	157485636	Missense_Mutation	SNP	T	TCGA-BR-6707-01A-11D-1882-08	47615494	157485636	91764985	4	35618											
ABL2	27	broad.mit.edu	37	chr1	179077710	179077710	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactccagccatcccaagtcGtgccccaccattcttctctt	4	18	2	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr1:179077710G>A	uc001gmj.3	-	12	2979	c.2692C>T	c.(2692-2694)CGA>TGA	p.R898*	ABL2_uc010pnf.1_Nonsense_Mutation_p.R795*|ABL2_uc010png.1_Nonsense_Mutation_p.R774*|ABL2_uc010pnh.1_Nonsense_Mutation_p.R877*|ABL2_uc001gmg.3_Nonsense_Mutation_p.R780*|ABL2_uc001gmi.3_Nonsense_Mutation_p.R883*|ABL2_uc001gmh.3_Nonsense_Mutation_p.R862*|ABL2_uc010pne.1_Nonsense_Mutation_p.R759*	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	898	F-actin-binding (By similarity).|Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	ATCCCAAGTCGTGCCCCACCA	0.612			T	ETV6	AML								A	179077710	G	A	179077710	4	1	40	1	0	0	0	0	0	1	0	0	93	1153	40	1	860	1	ABL2	1	179077710	Nonsense_Mutation	SNP	G	TCGA-BR-6707-01A-11D-1882-08	21592074	179077710	70172911	5	35619											
LHX4	89884	broad.mit.edu	37	chr1	180241097	180241097	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caagcaggagaaggagagctCtgcagaggactgtggggtta	17	6	1	3			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr1:180241097C>T	uc001goe.1	+	5	957	c.734C>T	c.(733-735)TCT>TTT	p.S245F	uc001gof.1_RNA	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	245						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						AAGGAGAGCTCTGCAGAGGAC	0.617													T	180241097	C	T	180241097	3	4	40	1	0	0	0	0	1	0	0	0	8773	913	32	4	752	4	LHX4	1	180241097	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08	1163387	180241097	69009524	6	35620											
RGL1	23179	broad.mit.edu	37	chr1	183891428	183891428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatctggactcagaccccGccgaggagtacgagctggtg	13	12	2	1	rs146832723		TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr1:183891428G>A	uc001gqo.2	+	17	2234	c.2077G>A	c.(2077-2079)GCC>ACC	p.A693T	RGL1_uc001gqm.2_Missense_Mutation_p.A728T|RGL1_uc010pog.1_Missense_Mutation_p.A691T|RGL1_uc010poh.1_Missense_Mutation_p.A691T|RGL1_uc010poi.1_Missense_Mutation_p.A664T	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	693	Ras-associating.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|ovary(4)|lung(2)	11						CTCAGACCCCGCCGAGGAGTA	0.552											OREG0014047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	183891428	G	A	183891428	3	1	40	1	0	0	0	0	1	0	0	0	13276	1087	38	1	2248	1	RGL1	1	183891428	Missense_Mutation	SNP	G	TCGA-BR-6707-01A-11D-1882-08	3650331	183891428	65359193	7	35621											
PROX1	5629	broad.mit.edu	37	chr1	214171517	214171517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacacccgcccagcaccGccgaagggctctccttgtcg	10	19	1	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr1:214171517G>A	uc001hkh.2	+	2	1911	c.1639G>A	c.(1639-1641)GCC>ACC	p.A547T	PROX1_uc001hkg.1_Missense_Mutation_p.A547T	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	547					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GCCCAGCACCGCCGAAGGGCT	0.498													A	214171517	G	A	214171517	3	1	40	1	0	0	0	0	1	0	0	0	12560	1087	38	1	1641	1	PROX1	1	214171517	Missense_Mutation	SNP	G	TCGA-BR-6707-01A-11D-1882-08	30280089	214171517	35079104	8	35622											
USH2A	7399	broad.mit.edu	37	chr1	215802319	215802319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcaggacacatgcactcCggttgctgcggatactcaca	11	13	1	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr1:215802319C>T	uc001hku.1	-	71	15743	c.15356G>A	c.(15355-15357)CGG>CAG	p.R5119Q		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	5119	Cytoplasmic (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACATGCACTCCGGTTGCTGCG	0.512										HNSCC(13;0.011)			T	215802319	C	T	215802319	3	4	40	1	0	0	0	0	1	0	0	0	17033	652	23	1	260	1	USH2A	1	215802319	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08	1630802	215802319	33448302	9	35623											
OBSCN	84033	broad.mit.edu	37	chr1	228404826	228404826	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcccacgtccacgtgcactgGtacaaggatggcatggagct	13	12	0	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr1:228404826G>C	uc009xez.1	+	8	2534	c.2490G>C	c.(2488-2490)TGG>TGC	p.W830C	OBSCN_uc001hsn.2_Missense_Mutation_p.W830C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	830	Ig-like 8.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				ACGTGCACTGGTACAAGGATG	0.657													C	228404826	G	C	228404826	3	2	40	1	0	0	0	0	1	0	0	0	10812	1270	44	5	2516	5	OBSCN	1	228404826	Missense_Mutation	SNP	G	TCGA-BR-6707-01A-11D-1882-08	12602507	228404826	20845795	10	35624											
OR2T6	254879	broad.mit.edu	37	chr1	248551682	248551682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatggggctgccttgtataCgtatacgcttccccaatctt	8	12	1	0	rs141134612	by1000genomes	TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr1:248551682C>T	uc001iei.1	+	1	773	c.773C>T	c.(772-774)ACG>ATG	p.T258M		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	258	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCTTGTATACGTATACGCTT	0.473													T	248551682	C	T	248551682	3	4	40	1	0	0	0	0	1	0	0	0	11029	536	19	1	775	1	OR2T6	1	248551682	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08	20146856	248551682	698939	11	35625											
CCDC88A	55704	broad.mit.edu	37	chr2	55523480	55523480	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaaccagttttgatcttgtGatgtcgactctccagtgttt	10	8	2	2			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr2:55523480G>A	uc002ryv.2	-	30	5844	c.5002C>T	c.(5002-5004)CAC>TAC	p.H1668Y	CCDC88A_uc010yoz.1_Missense_Mutation_p.H1641Y|CCDC88A_uc010ypa.1_Missense_Mutation_p.H1668Y|CCDC88A_uc002ryt.2_5'UTR|CCDC88A_uc010fbw.2_Missense_Mutation_p.H170Y|CCDC88A_uc002ryu.2_Missense_Mutation_p.H923Y|CCDC88A_uc002rys.2_Missense_Mutation_p.H626Y|CCDC88A_uc002ryw.2_Missense_Mutation_p.H952Y|CCDC88A_uc010fby.1_Missense_Mutation_p.H520Y	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	1669					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						TTGATCTTGTGATGTCGACTC	0.428													A	55523480	G	A	55523480	3	1	40	1	0	0	0	0	1	0	0	0	2863	1290	45	4	622	4	CCDC88A	2	55523480	Missense_Mutation	SNP	G	TCGA-BR-6707-01A-11D-1882-08		55523480	187675893	12	35626											
LRP1B	53353	broad.mit.edu	37	chr2	141283858	141283858	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctatgttctggttgcatcgTgctgatcttggaatacaagt	10	7	3	1			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr2:141283858T>C	uc002tvj.1	-	48	8796	c.7824A>G	c.(7822-7824)GCA>GCG	p.A2608A		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2608	Extracellular (Potential).|LDL-receptor class A 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGTTGCATCGTGCTGATCTTG	0.428										TSP Lung(27;0.18)			C	141283858	T	C	141283858	2	2	40	1	0	0	0	0	0	0	0	1	8955	1683	59	3		3	LRP1B	2	141283858	Silent	SNP	T	TCGA-BR-6707-01A-11D-1882-08	85760378	141283858	101915515	13	35627											
SLC4A10	57282	broad.mit.edu	37	chr2	162821597	162821599	+	In_Frame_Del	DEL	TTG	TTG	-													ttgtaagaaagttgatggacTtgttgttcacgaagcgggaa							TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr2:162821596_162821598CTTG>C	uc002ubx.4	+	22	3256_3258	c.3072_3074CTTG>C	c.(3070-3075)gacttg>gaCg	p.L1026del	SLC4A10_uc010zcs.2_In_Frame_Del_p.L1007del|SLC4A10_uc002uby.4_In_Frame_Del_p.L996del	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	1026					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGTTGATGGACTTGTTGTTCACG	0.369													-	162821599	TTG	-	162821597	7	5	40	1	0	1	0	1	0	0	0	0	14651	1606	56	0	3248	0	SLC4A10	2	162821597	In_Frame_Del	DEL	TTG	TCGA-BR-6707-01A-11D-1882-08	21537739	162821597	80377776	14	35628											
CPS1	1373	broad.mit.edu	37	chr2	211512631	211512631	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttggaggccagattccaaaCaacctggcagttcctctata	9	11	1	1			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr2:211512631C>A	uc002vee.3	+	26	3318	c.3186C>A	c.(3184-3186)AAC>AAA	p.N1062K	CPS1_uc010fur.2_Missense_Mutation_p.N1068K|CPS1_uc010fus.2_Missense_Mutation_p.N611K	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	1062					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AGATTCCAAACAACCTGGCAG	0.473													A	211512631	C	A	211512631	3	1	40	1	0	0	0	0	1	0	0	0	3823	477	17	5	3310	5	CPS1	2	211512631	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08	48691034	211512631	31686742	15	35629											
SLC23A3	151295	broad.mit.edu	37	chr2	220032699	220032699	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccttggtgggggcagacagtTcctgggggataacactgaat	15	8	0	2			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr2:220032699T>A	uc010zks.1	-	7	977	c.866A>T	c.(865-867)GAA>GTA	p.E289V	NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Missense_Mutation_p.E297V|SLC23A3_uc010fwb.2_Missense_Mutation_p.N257Y|SLC23A3_uc002vjs.1_Silent_p.G141G|SLC23A3_uc002vjt.1_Silent_p.G148G	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN	solute carrier family 23 (nucleobase	289	Cytoplasmic (Potential).				transmembrane transport	integral to membrane	protein binding|transporter activity				0		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCAGACAGTTCCTGGGGGAT	0.512													A	220032699	T	A	220032699	3	1	40	1	0	0	0	0	1	0	0	0	14464	1797	62	5	990	5	SLC23A3	2	220032699	Missense_Mutation	SNP	T	TCGA-BR-6707-01A-11D-1882-08	8520068	220032699	23166674	16	35630											
KIF1A	547	broad.mit.edu	37	chr2	241710462	241710462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggctggacacggaggccgCgcggctggacagggctgaga	20	10	0	1			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr2:241710462C>T	uc002vzy.2	-	14	1386	c.1240G>A	c.(1240-1242)GCG>ACG	p.A414T	KIF1A_uc010fzk.2_Missense_Mutation_p.A423T|KIF1A_uc002vzz.1_Missense_Mutation_p.A423T	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	414					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)		ACGGAGGCCGCGCGGCTGGAC	0.647													T	241710462	C	T	241710462	3	4	40	1	0	0	0	0	1	0	0	0	8283	768	27	1	3968	1	KIF1A	2	241710462	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08	21677763	241710462	1488911	17	35631											
CNTN6	27255	broad.mit.edu	37	chr3	1424860	1424860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctactctggggaagatGgtaagttgtcctcaactctg	11	8	4	1			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr3:1424860G>A	uc003boz.2	+	18	2668	c.2401G>A	c.(2401-2403)GAA>AAA	p.E801K	CNTN6_uc011asj.1_Missense_Mutation_p.E729K|CNTN6_uc003bpa.2_Missense_Mutation_p.E801K	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	801					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGGGGAAGATGGTAAGTTGTC	0.423													A	1424860	G	A	1424860	3	1	40	1	0	0	0	0	1	0	0	0	3645	1362	47	4	2467	4	CNTN6	3	1424860	Missense_Mutation	SNP	G	TCGA-BR-6707-01A-11D-1882-08		1424860	196597570	18	35632											
ATP2B2	491	broad.mit.edu	37	chr3	10401792	10401792	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacctgccgaggcagggcgcCctccttctctgggggctgca	14	16	1	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr3:10401792C>A	uc003bvt.2	-	13	2114	c.1675G>T	c.(1675-1677)GGC>TGC	p.G559C	ATP2B2_uc003bvv.2_Missense_Mutation_p.G514C|ATP2B2_uc003bvw.2_Missense_Mutation_p.G514C|ATP2B2_uc010hdo.2_Missense_Mutation_p.G264C	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	559	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GGCAGGGCGCCCTCCTTCTCT	0.687													A	10401792	C	A	10401792	3	1	40	1	0	0	0	0	1	0	0	0	1140	623	22	5	2100	5	ATP2B2	3	10401792	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08	8976932	10401792	187620638	19	35633											
SLC6A20	54716	broad.mit.edu	37	chr3	45801497	45801497	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctcggccggtcatggccTtaaggtcactttcaaatcta	9	12	4	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr3:45801497T>C	uc011bai.1	-	10	1605	c.1481A>G	c.(1480-1482)AAG>AGG	p.K494R	SLC6A20_uc003cow.2_Missense_Mutation_p.K144R|SLC6A20_uc011baj.1_Missense_Mutation_p.K457R	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	solute carrier family 6, member 20 isoform 1	494	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GGTCATGGCCTTAAGGTCACT	0.532													C	45801497	T	C	45801497	3	2	40	1	0	0	0	0	1	0	0	0	14684	1609	56	3	305	3	SLC6A20	3	45801497	Missense_Mutation	SNP	T	TCGA-BR-6707-01A-11D-1882-08	35399705	45801497	152220933	20	35634											
SETD2	29072	broad.mit.edu	37	chr3	47164272	47164272	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaatcatttaatcgattTgatggagctggagacccagc	12	7	1	3			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr3:47164272T>C	uc003cqs.2	-	3	1907	c.1854A>G	c.(1852-1854)TCA>TCG	p.S618S	SETD2_uc003cqv.2_Silent_p.S607S	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	618					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTAATCGATTTGATGGAGCTG	0.318			N|F|S|Mis		clear cell renal carcinoma								C	47164272	T	C	47164272	2	2	40	1	0	0	0	0	0	0	0	1	14131	1799	63	3		3	SETD2	3	47164272	Silent	SNP	T	TCGA-BR-6707-01A-11D-1882-08	1362775	47164272	150858158	21	35635											
ZBED2	79413	broad.mit.edu	37	chr3	111312998	111312998	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttcatctctaagtccccTtttgccttcatcattgttcc	3	15	4	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr3:111312998T>C	uc003dxy.2	-	2	936	c.51A>G	c.(49-51)AAA>AAG	p.K17K	CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	zinc finger, BED domain containing 2	17							DNA binding|metal ion binding			skin(1)	1						CTAAGTCCCCTTTTGCCTTCA	0.488													C	111312998	T	C	111312998	2	2	40	1	0	0	0	0	0	0	0	1	17515	1606	56	3		3	ZBED2	3	111312998	Silent	SNP	T	TCGA-BR-6707-01A-11D-1882-08	64148726	111312998	86709432	22	35636											
EPHB1	2047	broad.mit.edu	37	chr3	134851683	134851683	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatcatctgcaaaaagtgCcgggcagaccgccggagctg	12	12	2	1			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr3:134851683C>T	uc003eqt.2	+	5	1309	c.1089C>T	c.(1087-1089)TGC>TGT	p.C363C	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	363	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						GCAAAAAGTGCCGGGCAGACC	0.597													T	134851683	C	T	134851683	2	4	40	1	0	0	0	0	0	0	0	1	5174	747	26	2		2	EPHB1	3	134851683	Silent	SNP	C	TCGA-BR-6707-01A-11D-1882-08	23538685	134851683	63170747	23	35637											
SLITRK3	22865	broad.mit.edu	37	chr3	164905876	164905876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcatgccaggagggtgcaCgtgcagttcctttaatttgg	13	8	0	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr3:164905876C>T	uc003fej.3	-	2	3187	c.2743G>A	c.(2743-2745)GTG>ATG	p.V915M	SLITRK3_uc003fek.2_Missense_Mutation_p.V915M	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	915	Cytoplasmic (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						GGAGGGTGCACGTGCAGTTCC	0.532										HNSCC(40;0.11)			T	164905876	C	T	164905876	3	4	40	1	0	0	0	0	1	0	0	0	14744	536	19	1	194	1	SLITRK3	3	164905876	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08	30054193	164905876	33116554	24	35638											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936091	G	A	178936091	3	1	40	1	0	0	0	0	1	0	0	0	11913	1291	45	4	1667	4	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-BR-6707-01A-11D-1882-08	14030215	178936091	19086339	25	35639											
GRSF1	2926	broad.mit.edu	37	chr4	71698070	71698070	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcattgcaactataaggaagTcctctcaaacgaaccacacc	5	13	2	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr4:71698070T>A	uc010iia.1	-	4	851	c.768A>T	c.(766-768)GGA>GGT	p.G256G	GRSF1_uc011caz.1_Silent_p.G138G|GRSF1_uc003hfs.2_Silent_p.G94G	NM_002092	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1 isoform 1	256	RRM 2.				mRNA polyadenylation		mRNA binding|nucleotide binding				0		all_hematologic(202;0.21)	Lung(101;0.235)			TATAAGGAAGTCCTCTCAAAC	0.393													A	71698070	T	A	71698070	2	1	40	1	0	0	0	0	0	0	0	1	6809	1654	58	5		5	GRSF1	4	71698070	Silent	SNP	T	TCGA-BR-6707-01A-11D-1882-08		71698070	119456206	26	35640											
FRAS1	80144	broad.mit.edu	37	chr4	79229315	79229315	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgctgagagatggcggctgtGagagcagctgtggaaaaggc	18	6	0	3			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr4:79229315G>T	uc003hlb.2	+	15	2070	c.1630G>T	c.(1630-1632)GAG>TAG	p.E544*	FRAS1_uc003hkw.2_Nonsense_Mutation_p.E544*|FRAS1_uc003hky.1_Nonsense_Mutation_p.E248*|FRAS1_uc003hkz.2_Nonsense_Mutation_p.E248*|FRAS1_uc003hla.1_Nonsense_Mutation_p.E55*	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	544	FU 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TGGCGGCTGTGAGAGCAGCTG	0.577													T	79229315	G	T	79229315	4	4	40	1	0	0	0	0	0	1	0	0	6042	1291	45	5	1688	5	FRAS1	4	79229315	Nonsense_Mutation	SNP	G	TCGA-BR-6707-01A-11D-1882-08	7531245	79229315	111924961	27	35641											
DKK2	27123	broad.mit.edu	37	chr4	107847019	107847019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagcgcttcttttttctccGacacaccatgcaggccgatg	9	14	2	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr4:107847019G>A	uc003hyi.2	-	2	1015	c.310C>T	c.(310-312)CGG>TGG	p.R104W	DKK2_uc010ilw.1_RNA|DKK2_uc003hyj.1_Missense_Mutation_p.R104W	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	104	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TTTTTTCTCCGACACACCATG	0.512													A	107847019	G	A	107847019	3	1	40	1	0	0	0	0	1	0	0	0	4545	1057	37	1	481	1	DKK2	4	107847019	Missense_Mutation	SNP	G	TCGA-BR-6707-01A-11D-1882-08	28617704	107847019	83307257	28	35642											
INTU	27152	broad.mit.edu	37	chr4	128628065	128628065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atactacaccggatgcagtaCggaagcaaagagaatctcag	10	9	1	1			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr4:128628065C>T	uc003ifk.1	+	12	2282	c.2212C>T	c.(2212-2214)CGG>TGG	p.R738W	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	738										ovary(1)	1						GGATGCAGTACGGAAGCAAAG	0.473													T	128628065	C	T	128628065	3	4	40	1	0	0	0	0	1	0	0	0	7786	527	19	1	2258	1	INTU	4	128628065	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08	20781046	128628065	62526211	29	35643											
PRDM9	56979	broad.mit.edu	37	chr5	23521145	23521145	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attaaagggaatgcccaaggCgtcattcagtaatgaatcta	9	7	3	1			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr5:23521145C>A	uc003jgo.2	+	6	547	c.365C>A	c.(364-366)GCG>GAG	p.A122E		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	122					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						ATGCCCAAGGCGTCATTCAGT	0.393										HNSCC(3;0.000094)			A	23521145	C	A	23521145	3	1	40	1	0	0	0	0	1	0	0	0	12463	768	27	5	383	5	PRDM9	5	23521145	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08		23521145	157394115	30	35644											
MAP1B	4131	broad.mit.edu	37	chr5	71495207	71495207	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggaccccagctactcttatGaaaccactgagaaaattacc	7	12	1	2			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr5:71495207G>T	uc003kbw.3	+	5	6266	c.6025G>T	c.(6025-6027)GAA>TAA	p.E2009*	MAP1B_uc010iyw.1_Nonsense_Mutation_p.E2026*|MAP1B_uc010iyx.1_Nonsense_Mutation_p.E1883*|MAP1B_uc010iyy.1_Nonsense_Mutation_p.E1883*	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2009	MAP1B 7.					microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTACTCTTATGAAACCACTGA	0.453													T	71495207	G	T	71495207	4	4	40	1	0	0	0	0	0	1	0	0	9228	1291	45	5	6043	5	MAP1B	5	71495207	Nonsense_Mutation	SNP	G	TCGA-BR-6707-01A-11D-1882-08	47974062	71495207	109420053	31	35645											
GPR98	84059	broad.mit.edu	37	chr5	89943437	89943437	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgggaaggctactgcaagaGagagagatttcattcctgtt	12	6	1	3			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr5:89943437G>T	uc003kju.2	+	17	3241	c.3145G>T	c.(3145-3147)GAG>TAG	p.E1049*	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1049	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TACTGCAAGAGAGAGAGATTT	0.428													T	89943437	G	T	89943437	4	4	40	1	0	0	0	0	0	1	0	0	6721	943	33	5	3211	5	GPR98	5	89943437	Nonsense_Mutation	SNP	G	TCGA-BR-6707-01A-11D-1882-08	18448230	89943437	90971823	32	35646											
PCDHA12	56137	broad.mit.edu	37	chr5	140256419	140256419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaacgacaatgcgcctgcGttcgcgcagcccgagtacac	12	14	0	1			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr5:140256419G>A	uc003lic.2	+	1	1489	c.1362G>A	c.(1360-1362)GCG>GCA	p.A454A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.A454A	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	454	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGCCTGCGTTCGCGCAGC	0.652													A	140256419	G	A	140256419	2	1	40	1	0	0	0	0	0	0	0	1	11522	1132	40	1		1	PCDHA12	5	140256419	Silent	SNP	G	TCGA-BR-6707-01A-11D-1882-08	50312982	140256419	40658841	33	35647											
PCDHB7	56129	broad.mit.edu	37	chr5	140553577	140553577	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtgtgctccatccaggaCgatgtccccttcatcctgaa	8	14	1	1			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr5:140553577C>T	uc003lit.2	+	1	1335	c.1161C>T	c.(1159-1161)GAC>GAT	p.D387D		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	387	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATCCAGGACGATGTCCCCT	0.473													T	140553577	C	T	140553577	2	4	40	1	0	0	0	0	0	0	0	1	11547	535	19	1		1	PCDHB7	5	140553577	Silent	SNP	C	TCGA-BR-6707-01A-11D-1882-08	297158	140553577	40361683	34	35648											
LARP1	23367	broad.mit.edu	37	chr5	154172296	154172296	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtccaaaaaccaaatcagatGaatcaggggaggaaaagaat	10	6	2	3			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr5:154172296G>T	uc003lvp.2	+	4	1108	c.679G>T	c.(679-681)GAA>TAA	p.E227*	LARP1_uc003lvo.2_Nonsense_Mutation_p.E150*|LARP1_uc010jie.1_Nonsense_Mutation_p.E22*	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	227							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAAATCAGATGAATCAGGGGA	0.522													T	154172296	G	T	154172296	4	4	40	1	0	0	0	0	0	1	0	0	8628	1291	45	5	462	5	LARP1	5	154172296	Nonsense_Mutation	SNP	G	TCGA-BR-6707-01A-11D-1882-08	13618719	154172296	26742964	35	35649											
FGFR4	2264	broad.mit.edu	37	chr5	176517537	176517537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcacctgctggccgtgtaCggggctggaggggccgccta	18	12	0	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr5:176517537C>T	uc003mfl.2	+	3	405	c.238C>T	c.(238-240)CGG>TGG	p.R80W	FGFR4_uc003mfm.2_Missense_Mutation_p.R80W|FGFR4_uc011dfu.1_Missense_Mutation_p.R80W|FGFR4_uc011dfv.1_RNA|FGFR4_uc003mfn.1_Missense_Mutation_p.R80W|FGFR4_uc011dfw.1_Missense_Mutation_p.R80W|FGFR4_uc003mfo.2_Missense_Mutation_p.R80W	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	80	Ig-like C2-type 1.|Extracellular (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	p.R80W(2)		lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	TGGCCGTGTACGGGGCTGGAG	0.652										TSP Lung(9;0.080)			T	176517537	C	T	176517537	3	4	40	1	0	0	0	0	1	0	0	0	5868	527	19	1	244	1	FGFR4	5	176517537	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08	22345241	176517537	4397723	36	35650											
HSPA1L	3305	broad.mit.edu	37	chr6	31779555	31779555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcaaaaacagtgttctgGggattcattgctacctggtt	10	8	3	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr6:31779555G>A	uc003nxh.2	-	2	378	c.195C>T	c.(193-195)CCC>CCT	p.P65P	HSPA1L_uc010jte.2_Silent_p.P65P	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	65					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						CAGTGTTCTGGGGATTCATTG	0.498													A	31779555	G	A	31779555	2	1	40	1	0	0	0	0	0	0	0	1	7410	1219	43	4		4	HSPA1L	6	31779555	Silent	SNP	G	TCGA-BR-6707-01A-11D-1882-08		31779555	139335512	37	35651											
KCNK16	83795	broad.mit.edu	37	chr6	39285601	39285601	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcccatctttcaatggcGgccagatgggcacgcagccc	10	16	2	1	rs79043904		TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr6:39285601G>A	uc003ooq.2	-	3	470	c.456C>T	c.(454-456)GCC>GCT	p.A152A	KCNK16_uc003oor.3_Silent_p.A152A|KCNK16_uc010jwy.2_Silent_p.A152A|KCNK16_uc011dtz.1_Silent_p.A152A	NM_032115	NP_115491	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	152	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(1)	3						TTTCAATGGCGGCCAGATGGG	0.552													A	39285601	G	A	39285601	2	1	40	1	0	0	0	0	0	0	0	1	8063	1103	39	1		1	KCNK16	6	39285601	Silent	SNP	G	TCGA-BR-6707-01A-11D-1882-08	7506046	39285601	131829466	38	35652											
RNF217	154214	broad.mit.edu	37	chr6	125366470	125366470	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gactccatcaagtataagtaCttcttggaacttggccgtat	8	9	2	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr6:125366470C>G	uc003pzs.2	+	4	458	c.120C>G	c.(118-120)TAC>TAG	p.Y40*	RNF217_uc003pzr.2_Nonsense_Mutation_p.Y97*|RNF217_uc003pzt.2_RNA	NM_152553	NP_689766	Q8TC41	RN217_HUMAN	ring finger protein 217	40	IBR-type.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		AGTATAAGTACTTCTTGGAAC	0.408													G	125366470	C	G	125366470	4	3	40	1	0	0	0	0	0	1	0	0	13481	576	20	5	126	5	RNF217	6	125366470	Nonsense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08	86080869	125366470	45748597	39	35653											
SLC22A1	6580	broad.mit.edu	37	chr6	160557340	160557340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacatcgctcaaaagaatGggaagttgcctcctgctgat	9	11	1	2			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr6:160557340G>A	uc003qtc.2	+	5	1033	c.928G>A	c.(928-930)GGG>AGG	p.G310R	SLC22A1_uc003qtd.2_Missense_Mutation_p.G310R	NM_003057	NP_003048	O15245	S22A1_HUMAN	solute carrier family 22 member 1 isoform a	310	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding				0		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TCAAAAGAATGGGAAGTTGCC	0.493													A	160557340	G	A	160557340	3	1	40	1	0	0	0	0	1	0	0	0	14440	1348	47	4	946	4	SLC22A1	6	160557340	Missense_Mutation	SNP	G	TCGA-BR-6707-01A-11D-1882-08	35190870	160557340	10557727	40	35654											
CARD11	84433	broad.mit.edu	37	chr7	2954991	2954991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catccgcttatacttgttctCggacctgctgacgaactgga	9	12	1	1			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr7:2954991C>T	uc003smv.2	-	21	3123	c.2719G>A	c.(2719-2721)GAG>AAG	p.E907K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	907					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TACTTGTTCTCGGACCTGCTG	0.607			Mis		DLBCL								T	2954991	C	T	2954991	3	4	40	1	0	0	0	0	1	0	0	0	2645	893	31	1	765	1	CARD11	7	2954991	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08		2954991	156183672	41	35655											
DAGLB	221955	broad.mit.edu	37	chr7	6449475	6449475	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggccctggtcaggccAcgtccacactggagacccct	11	17	1	1			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr7:6449475A>G	uc003sqa.2	-	15	2182	c.2012T>C	c.(2011-2013)GTG>GCG	p.V671A	DAGLB_uc003spy.2_Missense_Mutation_p.V217A|DAGLB_uc003spz.2_Missense_Mutation_p.V368A|DAGLB_uc011jwt.1_Missense_Mutation_p.V485A|DAGLB_uc011jwu.1_Missense_Mutation_p.V542A|DAGLB_uc003sqb.2_Missense_Mutation_p.V390A|DAGLB_uc003sqc.2_Missense_Mutation_p.V390A|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.V630A	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	671	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TGGTCAGGCCACGTCCACACT	0.587													G	6449475	A	G	6449475	3	3	40	1	0	0	0	0	1	0	0	0	4227	159	6	3	10	3	DAGLB	7	6449475	Missense_Mutation	SNP	A	TCGA-BR-6707-01A-11D-1882-08	3494484	6449475	152689188	42	35656											
SEPT14	346288	broad.mit.edu	37	chr7	55914311	55914311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccaatcgtagttaaacaaCgaatattattttctttttgc	5	7	1	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr7:55914311C>T	uc003tqz.2	-	3	191	c.74G>A	c.(73-75)CGT>CAT	p.R25H		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	septin 14	25					cell cycle|cell division	septin complex	GTP binding|protein binding				0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGTTAAACAACGAATATTATT	0.289													T	55914311	C	T	55914311	3	4	40	1	0	0	0	0	1	0	0	0	14063	536	19	1	1256	1	SEPT14	7	55914311	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08	49464836	55914311	103224352	43	35657											
LAMB4	22798	broad.mit.edu	37	chr7	107677848	107677848	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttactcagctgctttggccTtcaccaaaagcttttgggct	8	12	2	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr7:107677848T>C	uc010ljo.1	-	30	4748	c.4664A>G	c.(4663-4665)AAG>AGG	p.K1555R	LAMB4_uc003vey.2_Missense_Mutation_p.K1555R|LAMB4_uc010ljp.1_Missense_Mutation_p.K524R	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1555	Potential.|Domain I.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						TGCTTTGGCCTTCACCAAAAG	0.393													C	107677848	T	C	107677848	3	2	40	1	0	0	0	0	1	0	0	0	8613	1609	56	3	641	3	LAMB4	7	107677848	Missense_Mutation	SNP	T	TCGA-BR-6707-01A-11D-1882-08	51763537	107677848	51460815	44	35658											
FLNC	2318	broad.mit.edu	37	chr7	128494220	128494220	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgtttggggacttccTgggccgggagcgcctgggat	18	9	0	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr7:128494220T>C	uc003vnz.3	+	40	6886	c.6677T>C	c.(6676-6678)CTG>CCG	p.L2226P	FLNC_uc003voa.3_Missense_Mutation_p.L2193P	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2226	Intradomain insert.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GGGGACTTCCTGGGCCGGGAG	0.711													C	128494220	T	C	128494220	3	2	40	1	0	0	0	0	1	0	0	0	5935	1580	55	3	6835	3	FLNC	7	128494220	Missense_Mutation	SNP	T	TCGA-BR-6707-01A-11D-1882-08	20816372	128494220	30644443	45	35659											
NAT2	10	broad.mit.edu	37	chr8	18258091	18258091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaaaatatacttatttaCgcttgaacctcgaacaattg	4	9	0	1	rs79050330	byFrequency	TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr8:18258091C>T	uc003wyw.1	+	2	685	c.578C>T	c.(577-579)ACG>ATG	p.T193M		NM_000015	NP_000006	P11245	ARY2_HUMAN	N-acetyltransferase 2	193			T -> M.		xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			ovary(1)|skin(1)	2				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TACTTATTTACGCTTGAACCT	0.353									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				T	18258091	C	T	18258091	3	4	40	1	0	0	0	0	1	0	0	0	10177	536	19	1	580	1	NAT2	8	18258091	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08		18258091	128105931	46	35660											
ENTPD4	9583	broad.mit.edu	37	chr8	23291882	23291882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccaagggtccactgaaCctccttgtcgtaaacttgca	9	13	0	1			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr8:23291882C>T	uc003xdl.2	-	12	1734	c.1570G>A	c.(1570-1572)GTT>ATT	p.V524I	ENTPD4_uc011kzu.1_Missense_Mutation_p.V516I|ENTPD4_uc003xdm.2_Missense_Mutation_p.V516I|ENTPD4_uc011kzv.1_Missense_Mutation_p.V524I	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	524	Lumenal (Potential).				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			ovary(1)|kidney(1)	2		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GTCCACTGAACCTCCTTGTCG	0.453													T	23291882	C	T	23291882	3	4	40	1	0	0	0	0	1	0	0	0	5141	507	18	4	288	4	ENTPD4	8	23291882	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08	5033791	23291882	123072140	47	35661											
TRIM35	23087	broad.mit.edu	37	chr8	27156046	27156046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggccttggccttctcccGcagtgcatgctccatgttcc	10	15	1	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr8:27156046G>A	uc003xfl.1	-	2	548	c.466C>T	c.(466-468)CGG>TGG	p.R156W	TRIM35_uc010lup.1_Intron|TRIM35_uc003xfm.1_RNA	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	tripartite motif-containing 35 isoform 2	156					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding				0		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GCCTTCTCCCGCAGTGCATGC	0.602													A	27156046	G	A	27156046	3	1	40	1	0	0	0	0	1	0	0	0	16506	1086	38	1	1035	1	TRIM35	8	27156046	Missense_Mutation	SNP	G	TCGA-BR-6707-01A-11D-1882-08	3864164	27156046	119207976	48	35662											
SNTG1	54212	broad.mit.edu	37	chr8	51664620	51664620	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttcagatgatggcaagagCaaaatcaaatttttgtttca	7	6	4	3			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr8:51664620C>A	uc010lxy.1	+	19	1715	c.1344C>A	c.(1342-1344)AGC>AGA	p.S448R	SNTG1_uc003xqs.1_Missense_Mutation_p.S448R|SNTG1_uc010lxz.1_Intron|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	448					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ATGGCAAGAGCAAAATCAAAT	0.358													A	51664620	C	A	51664620	3	1	40	1	0	0	0	0	1	0	0	0	14874	709	25	5	1406	5	SNTG1	8	51664620	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08	24508574	51664620	94699402	49	35663											
RIMS2	9699	broad.mit.edu	37	chr8	105105703	105105703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caatctgtgttaacagtatcGatcaggatgggatcctcata	9	8	3	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr8:105105703G>A	uc003yls.2	+	21	2967	c.2726G>A	c.(2725-2727)CGA>CAA	p.R909Q	RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.R982Q|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	365					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAACAGTATCGATCAGGATGG	0.383										HNSCC(12;0.0054)			A	105105703	G	A	105105703	3	1	40	1	0	0	0	0	1	0	0	0	13368	1073	37	1		1	RIMS2	8	105105703	Missense_Mutation	SNP	G	TCGA-BR-6707-01A-11D-1882-08	53441083	105105703	41258319	50	35664											
MUSK	4593	broad.mit.edu	37	chr9	113563100	113563100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaggaggtcatttactaCgtgcgagatggcaacatcct	11	9	1	2			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr9:113563100C>T	uc004bey.2	+	14	2540	c.2442C>T	c.(2440-2442)TAC>TAT	p.Y814Y	MUSK_uc004bez.1_Silent_p.Y394Y	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	814	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						TCATTTACTACGTGCGAGATG	0.562													T	113563100	C	T	113563100	2	4	40	1	0	0	0	0	0	0	0	1	9989	547	19	1		1	MUSK	9	113563100	Silent	SNP	C	TCGA-BR-6707-01A-11D-1882-08		113563100	27650331	51	35665											
GOLGA2	2801	broad.mit.edu	37	chr9	131024860	131024860	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgttgaagcaggagttcCgtcatctctaacttcttttg	9	10	3	1			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr9:131024860C>T	uc011maw.1	-	13	1048	c.1035G>A	c.(1033-1035)ACG>ACA	p.T345T	GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_5'Flank|GOLGA2_uc004bul.1_Silent_p.T246T|uc004bun.2_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	345	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						GCAGGAGTTCCGTCATCTCTA	0.532													T	131024860	C	T	131024860	2	4	40	1	0	0	0	0	0	0	0	1	6552	639	23	1		1	GOLGA2	9	131024860	Silent	SNP	C	TCGA-BR-6707-01A-11D-1882-08	17461760	131024860	10188571	52	35666											
NET1	10276	broad.mit.edu	37	chr10	5498109	5498109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcggcccgtcacacggaaCgaacggcactcttaccaggt	10	15	2	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr10:5498109C>T	uc001iia.2	+	11	1395	c.1257C>T	c.(1255-1257)AAC>AAT	p.N419N	NET1_uc010qar.1_Silent_p.N238N|NET1_uc001iib.2_Silent_p.N365N|NET1_uc010qas.1_Silent_p.N238N	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming gene 1 isoform	419	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(1)	1						TCACACGGAACGAACGGCACT	0.483													T	5498109	C	T	5498109	2	4	40	1	0	0	0	0	0	0	0	1	10338	535	19	1		1	NET1	10	5498109	Silent	SNP	C	TCGA-BR-6707-01A-11D-1882-08		5498109	130036638	53	35667											
PTEN	5728	broad.mit.edu	37	chr10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtaaagctggaaagggacGaactggtgtaatgatatgtg	14	4	0	1	rs121913292		TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr10:89692905G>A	uc001kfb.2	+	6	1420	c.389G>A	c.(388-390)CGA>CAA	p.R130Q		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type.		R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).	R->M: Does not affect the ability to inhibit AKT/PKB activation.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130G(65)|p.R130*(61)|p.R130Q(43)|p.R130fs*4(12)|p.R130L(7)|p.R55fs*1(4)|p.R130P(4)|p.K128_R130del(3)|p.Y27_N212>Y(2)|p.?(2)|p.Y27fs*1(2)|p.R130R(1)|p.K128fs*47(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)|R130Q(JHUEM1_ENDOMETRIUM)	31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89692905	G	A	89692905	3	1	40	1	0	0	0	0	1	0	0	0	12738	1058	37	1	407	1	PTEN	10	89692905	Missense_Mutation	SNP	G	TCGA-BR-6707-01A-11D-1882-08	84194796	89692905	45841842	54	35668											
PDCD11	22984	broad.mit.edu	37	chr10	105202030	105202030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcagagaaggaactgtccCgcattgaggaggcgctgatg	16	8	0	3			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr10:105202030C>T	uc001kwy.1	+	32	4855	c.4768C>T	c.(4768-4770)CGC>TGC	p.R1590C		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1590					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGAACTGTCCCGCATTGAGGA	0.537													T	105202030	C	T	105202030	3	4	40	1	0	0	0	0	1	0	0	0	11617	652	23	1	4890	1	PDCD11	10	105202030	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08	15509125	105202030	30332717	55	35669											
DENND5A	23258	broad.mit.edu	37	chr11	9167339	9167339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagcttcttgcttggtaCgatcagaatgtggtacggga	12	10	2	1			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr11:9167339C>T	uc001mhl.2	-	17	3136	c.2881G>A	c.(2881-2883)GTA>ATA	p.V961I	DENND5A_uc001mhk.2_Missense_Mutation_p.V304I|DENND5A_uc010rbw.1_Missense_Mutation_p.V961I|DENND5A_uc010rbx.1_RNA	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	961	PLAT.									liver(1)	1						TTGCTTGGTACGATCAGAATG	0.488													T	9167339	C	T	9167339	3	4	40	1	0	0	0	0	1	0	0	0	4436	536	19	1	1010	1	DENND5A	11	9167339	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08		9167339	125839177	56	35670											
ANO3	63982	broad.mit.edu	37	chr11	26619976	26619976	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctatacttgggaccttatCgaatgggaagaagaggaggt	13	6	0	2			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr11:26619976C>T	uc001mqt.3	+	15	1657	c.1512C>T	c.(1510-1512)ATC>ATT	p.I504I	ANO3_uc010rdr.1_Silent_p.I488I|ANO3_uc010rds.1_Silent_p.I343I|ANO3_uc010rdt.1_Silent_p.I358I	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	504	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GGGACCTTATCGAATGGGAAG	0.393													T	26619976	C	T	26619976	2	4	40	1	0	0	0	0	0	0	0	1	698	874	31	1		1	ANO3	11	26619976	Silent	SNP	C	TCGA-BR-6707-01A-11D-1882-08	17452637	26619976	108386540	57	35671											
ADAMTS8	11095	broad.mit.edu	37	chr11	130284575	130284575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtggcaccaaagctgggCgcagacgtcctgagcagagg	16	10	0	3			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr11:130284575C>T	uc001qgg.3	-	5	1775	c.1417G>A	c.(1417-1419)GCC>ACC	p.A473T	ADAMTS8_uc001qgf.2_5'Flank	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	473	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CAAAGCTGGGCGCAGACGTCC	0.677													T	130284575	C	T	130284575	3	4	40	1	0	0	0	0	1	0	0	0	272	768	27	1	1272	1	ADAMTS8	11	130284575	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08	103664599	130284575	4721941	58	35672											
TAS2R7	50837	broad.mit.edu	37	chr12	10954759	10954759	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaacacagagagaaccacGcaccccagtagaatccagga	8	12	0	3			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr12:10954759G>A	uc001qyv.2	-	1	468	c.411C>T	c.(409-411)TGC>TGT	p.C137C		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	137	Helical; Name=4; (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			skin(1)	1						AGAGAACCACGCACCCCAGTA	0.413													A	10954759	G	A	10954759	2	1	40	1	0	0	0	0	0	0	0	1	15583	1079	38	1		1	TAS2R7	12	10954759	Silent	SNP	G	TCGA-BR-6707-01A-11D-1882-08		10954759	122897136	59	35673											
SLCO1B3	28234	broad.mit.edu	37	chr12	21068976	21068976	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctatagctttaagattccCagcacttgttttatatattg	5	7	1	1			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr12:21068976C>A	uc001rek.2	+	15	2030	c.1904C>A	c.(1903-1905)CCA>CAA	p.P635Q	SLCO1B3_uc001rel.2_Missense_Mutation_p.P635Q|SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Intron	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	635	Helical; Name=12; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					TTAAGATTCCCAGCACTTGTT	0.294													A	21068976	C	A	21068976	3	1	40	1	0	0	0	0	1	0	0	0	14724	594	21	5	1958	5	SLCO1B3	12	21068976	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08	10114217	21068976	112782919	60	35674											
TIMELESS	8914	broad.mit.edu	37	chr12	56824049	56824049	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcggctgctttcccaaatctGaactgtagtttcgtagctgg	10	10	1	1			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr12:56824049G>A	uc001slf.2	-	10	1094	c.926C>T	c.(925-927)TCA>TTA	p.S309L	TIMELESS_uc001slg.2_Missense_Mutation_p.S308L	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	309					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						TCCCAAATCTGAACTGTAGTT	0.512													A	56824049	G	A	56824049	3	1	40	1	0	0	0	0	1	0	0	0	15901	1294	45	4	2780	4	TIMELESS	12	56824049	Missense_Mutation	SNP	G	TCGA-BR-6707-01A-11D-1882-08	35755073	56824049	77027846	61	35675											
RASSF9	9182	broad.mit.edu	37	chr12	86199380	86199380	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcccacaatttttctgtGttttgcactaatttggcttc	6	10	1	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr12:86199380G>A	uc001taf.1	-	2	747	c.408C>T	c.(406-408)AAC>AAT	p.N136N		NM_005447	NP_005438	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family	136					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			ovary(1)	1						ATTTTTCTGTGTTTTGCACTA	0.423													A	86199380	G	A	86199380	2	1	40	1	0	0	0	0	0	0	0	1	13093	1368	48	4		4	RASSF9	12	86199380	Silent	SNP	G	TCGA-BR-6707-01A-11D-1882-08	29375331	86199380	47652515	62	35676											
N4BP2L2	10443	broad.mit.edu	37	chr13	33109952	33109952	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggcagacctcttaaaagaaTaagtaacttctgcaatttat	6	7	2	2			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr13:33109952T>A	uc001uuk.3	-	2	1391	c.1213A>T	c.(1213-1215)ATT>TTT	p.I405F	N4BP2L2_uc010abe.1_Intron|N4BP2L2_uc010tdz.1_Intron|N4BP2L2_uc001uul.1_Missense_Mutation_p.I405F|N4BP2L2_uc001uum.2_RNA	NM_014887	NP_055702	Q92802	N42L2_HUMAN	phosphonoformate immuno-associated protein 5	405											0		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CTTAAAAGAATAAGTAACTTC	0.338													A	33109952	T	A	33109952	3	1	40	1	0	0	0	0	1	0	0	0	10112	1406	49	5	2419	5	N4BP2L2	13	33109952	Missense_Mutation	SNP	T	TCGA-BR-6707-01A-11D-1882-08		33109952	82059926	63	35677											
KL	9365	broad.mit.edu	37	chr13	33591098	33591098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaggggctgcgctactacCggcgcctgctggagcggctg	18	13	0	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr13:33591098C>T	uc001uus.2	+	1	528	c.520C>T	c.(520-522)CGG>TGG	p.R174W	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	174	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCGCTACTACCGGCGCCTGCT	0.721													T	33591098	C	T	33591098	3	4	40	1	0	0	0	0	1	0	0	0	8331	643	23	1	522	1	KL	13	33591098	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08	481146	33591098	81578780	64	35678											
THBS1	7057	broad.mit.edu	37	chr15	39877765	39877765	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctgtcctcgctgttggcGtaagtttctcaaatggcata	10	9	1	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr15:39877765G>A	uc001zkh.2	+	7	1299	c.1120_splice	c.e7+1	p.P374_splice		NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor						activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CGCTGTTGGCGTAAGTTTCTC	0.507													A	39877765	G	A	39877765	5	1	40	1	0	0	0	0	0	0	1	0	15850	1159	40	1	1143	1	THBS1	15	39877765	Splice_Site	SNP	G	TCGA-BR-6707-01A-11D-1882-08		39877765	62653627	65	35679											
AP3B2	8120	broad.mit.edu	37	chr15	83346895	83346895	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaggaatgttggtctcatTggccaggttggtcagcactt	13	7	2	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr15:83346895T>C	uc010uoh.1	-	11	1384	c.1207A>G	c.(1207-1209)AAT>GAT	p.N403D	AP3B2_uc010uoi.1_Missense_Mutation_p.N403D|AP3B2_uc010uoj.1_Missense_Mutation_p.N371D|AP3B2_uc010uog.1_Missense_Mutation_p.N39D	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	403					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			TTGGTCTCATTGGCCAGGTTG	0.562													C	83346895	T	C	83346895	3	2	40	1	0	0	0	0	1	0	0	0	745	1812	63	3	2105	3	AP3B2	15	83346895	Missense_Mutation	SNP	T	TCGA-BR-6707-01A-11D-1882-08	43469130	83346895	19184497	66	35680											
PLCG2	5336	broad.mit.edu	37	chr16	81916924	81916924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctgcatgacttccagaGgtttctcatacatgaacagc	7	11	1	3			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr16:81916924G>A	uc002fgt.2	+	9	895	c.743G>A	c.(742-744)AGG>AAG	p.R248K	PLCG2_uc010chg.1_Missense_Mutation_p.R248K	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	248					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						GACTTCCAGAGGTTTCTCATA	0.562													A	81916924	G	A	81916924	3	1	40	1	0	0	0	0	1	0	0	0	12036	1000	35	4	773	4	PLCG2	16	81916924	Missense_Mutation	SNP	G	TCGA-BR-6707-01A-11D-1882-08		81916924	8437829	67	35681											
MYH2	4620	broad.mit.edu	37	chr17	10424715	10424715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctcatgctggagcttgCggaatttagctagattggtg	13	8	1	1			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr17:10424715C>T	uc010coi.2	-	40	5836	c.5708G>A	c.(5707-5709)CGC>CAC	p.R1903H	uc002gml.1_Intron|MYH1_uc002gmo.2_5'Flank|MYH2_uc002gmp.3_Missense_Mutation_p.R1903H|MYH2_uc010coj.2_Missense_Mutation_p.R670H	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1903	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						CTGGAGCTTGCGGAATTTAGC	0.468													T	10424715	C	T	10424715	3	4	40	1	0	0	0	0	1	0	0	0	10035	768	27	1	121	1	MYH2	17	10424715	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08		10424715	70770495	68	35682											
SLC46A1	113235	broad.mit.edu	37	chr17	26731940	26731940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctggacttctctggggCgggagccacatagagctgga	14	10	1	1			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr17:26731940C>T	uc002hbf.1	-	2	871	c.775G>A	c.(775-777)GCC>ACC	p.A259T	SLC46A1_uc002hbg.1_Missense_Mutation_p.A259T|SLC46A1_uc010wak.1_Missense_Mutation_p.A259T	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN	proton-coupled folate transporter	259					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity				0	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	TTCTCTGGGGCGGGAGCCACA	0.532													T	26731940	C	T	26731940	3	4	40	1	0	0	0	0	1	0	0	0	14644	768	27	1	621	1	SLC46A1	17	26731940	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08	16307225	26731940	54463270	69	35683											
ZNF569	148266	broad.mit.edu	37	chr19	37904164	37904164	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccacattccttacatatatAgggtttttccccagtatgaa	5	11	0	1			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr19:37904164A>G	uc002ogi.2	-	6	1954	c.1396T>C	c.(1396-1398)TAT>CAT	p.Y466H	ZNF569_uc002ogh.2_Missense_Mutation_p.Y307H|ZNF569_uc002ogj.2_Missense_Mutation_p.Y490H	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	466	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTACATATATAGGGTTTTTCC	0.358													G	37904164	A	G	37904164	3	3	40	1	0	0	0	0	1	0	0	0	17997	420	15	3	668	3	ZNF569	19	37904164	Missense_Mutation	SNP	A	TCGA-BR-6707-01A-11D-1882-08		37904164	21224819	70	35684											
PSG11	5680	broad.mit.edu	37	chr19	43519445	43519445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggtgggttagagtttgCgaagcaggacaagtcgaggt	17	5	0	1			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr19:43519445C>T	uc002ovm.1	-	4	894	c.787G>A	c.(787-789)GCA>ACA	p.A263T	PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG11_uc002ovn.1_Missense_Mutation_p.A269T|PSG11_uc002ovo.1_Missense_Mutation_p.A141T|PSG11_uc002ovp.1_Missense_Mutation_p.A141T	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	263	Ig-like C2-type 2.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				TTAGAGTTTGCGAAGCAGGAC	0.443													T	43519445	C	T	43519445	3	4	40	1	0	0	0	0	1	0	0	0	12654	768	27	1	228	1	PSG11	19	43519445	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08	5615281	43519445	15609538	71	35685											
ZNF235	9310	broad.mit.edu	37	chr19	44791904	44791904	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctctccggtgtggactctctGatgattgtgaagattcaagc	11	9	3	4			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr19:44791904G>A	uc002oza.3	-	5	1787	c.1684C>T	c.(1684-1686)CAG>TAG	p.Q562*	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Nonsense_Mutation_p.Q558*|ZNF235_uc010xwx.1_Nonsense_Mutation_p.Q476*	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	562	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)				TGGACTCTCTGATGATTGTGA	0.458													A	44791904	G	A	44791904	4	1	40	1	0	0	0	0	0	1	0	0	17785	1299	45	4	536	4	ZNF235	19	44791904	Nonsense_Mutation	SNP	G	TCGA-BR-6707-01A-11D-1882-08	1272459	44791904	14337079	72	35686											
SCRT2	85508	broad.mit.edu	37	chr20	644940	644940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagctgtcggtcactgccGcctcccctcggaagtagcgc	12	15	1	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr20:644940G>A	uc002wec.2	-	2	877	c.299C>T	c.(298-300)GCG>GTG	p.A100V	SRXN1_uc002web.2_Intron	NM_033129	NP_149120	Q9NQ03	SCRT2_HUMAN	scratch 2 protein	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGTCACTGCCGCCTCCCCTCG	0.567													A	644940	G	A	644940	3	1	40	1	0	0	0	0	1	0	0	0	13942	1087	38	1	628	1	SCRT2	20	644940	Missense_Mutation	SNP	G	TCGA-BR-6707-01A-11D-1882-08		644940	62380580	73	35687											
MAVS	57506	broad.mit.edu	37	chr20	3838418	3838418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgagctagttgatctcgCggacgaagtggcctctgtct	13	10	3	2			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr20:3838418C>T	uc002wjw.3	+	3	423	c.254C>T	c.(253-255)GCG>GTG	p.A85V	MAVS_uc002wjv.2_Missense_Mutation_p.A85V|MAVS_uc010zqn.1_Missense_Mutation_p.A85V|MAVS_uc002wjx.3_Intron|MAVS_uc002wjy.3_5'UTR	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	85	Cytoplasmic (Probable).				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0						GTTGATCTCGCGGACGAAGTG	0.637													T	3838418	C	T	3838418	3	4	40	1	0	0	0	0	1	0	0	0	9338	768	27	1	260	1	MAVS	20	3838418	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08	3193478	3838418	59187102	74	35688											
TSHZ2	128553	broad.mit.edu	37	chr20	51872642	51872642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatctgggcccacaagagcGtatgcaaatctctaagttta	9	9	2	2			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr20:51872642G>A	uc002xwo.2	+	2	3601	c.2645G>A	c.(2644-2646)CGT>CAT	p.R882H		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	882	Homeobox; atypical.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			CCACAAGAGCGTATGCAAATC	0.493													A	51872642	G	A	51872642	3	1	40	1	0	0	0	0	1	0	0	0	16621	1145	40	1	2651	1	TSHZ2	20	51872642	Missense_Mutation	SNP	G	TCGA-BR-6707-01A-11D-1882-08	48034224	51872642	11152878	75	35689											
PRAME	23532	broad.mit.edu	37	chr22	22892267	22892267	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatactgctcttccttctcCggggaaatgtaggaagatgc	10	9	2	1	rs34866162		TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr22:22892267C>T	uc002zwf.2	-	4	990	c.834G>A	c.(832-834)CCG>CCA	p.P278P	LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Silent_p.P262P|PRAME_uc010gtr.2_Silent_p.P278P|PRAME_uc002zwg.2_Silent_p.P278P|PRAME_uc002zwh.2_Silent_p.P278P|PRAME_uc002zwi.2_Silent_p.P278P|PRAME_uc002zwj.2_Silent_p.P278P|PRAME_uc002zwk.2_Silent_p.P278P	NM_206956	NP_996839	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	278					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			central_nervous_system(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CTTCCTTCTCCGGGGAAATGT	0.502													T	22892267	C	T	22892267	2	4	40	1	0	0	0	0	0	0	0	1	12424	639	23	1		1	PRAME	22	22892267	Silent	SNP	C	TCGA-BR-6707-01A-11D-1882-08		22892267	28412299	76	35690											
NLGN4X	57502	broad.mit.edu	37	chrX	5821174	5821174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggcgctgagcatgacgtcGttcttggaaaagttacaact	11	9	1	2			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chrX:5821174G>A	uc010ndh.2	-	5	2046	c.1545C>T	c.(1543-1545)AAC>AAT	p.N515N	NLGN4X_uc004crp.2_Silent_p.N535N|NLGN4X_uc004crq.2_Silent_p.N515N|NLGN4X_uc010ndi.2_Silent_p.N552N|NLGN4X_uc004crr.2_Silent_p.N515N|NLGN4X_uc010ndj.2_Silent_p.N515N	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	515	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						GCATGACGTCGTTCTTGGAAA	0.542													A	5821174	G	A	5821174	2	1	40	1	0	0	0	0	0	0	0	1	10464	1136	40	1		1	NLGN4X	23	5821174	Silent	SNP	G	TCGA-BR-6707-01A-11D-1882-08		5821174	149449386	77	35691											
BCOR	54880	broad.mit.edu	37	chrX	39923059	39923059	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacacctgctgctcccatcGttctctaaggtgcagcaagt	9	14	1	0			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chrX:39923059G>A	uc004den.3	-	8	3941	c.3649C>T	c.(3649-3651)CGA>TGA	p.R1217*	BCOR_uc004dep.3_Nonsense_Mutation_p.R1183*|BCOR_uc004deo.3_Nonsense_Mutation_p.R1165*|BCOR_uc010nhb.2_5'Flank|BCOR_uc004dem.3_Nonsense_Mutation_p.R1183*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	1217					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						TGCTCCCATCGTTCTCTAAGG	0.542													A	39923059	G	A	39923059	4	1	40	1	0	0	0	0	0	1	0	0	1386	1153	40	1	1650	1	BCOR	23	39923059	Nonsense_Mutation	SNP	G	TCGA-BR-6707-01A-11D-1882-08	34101885	39923059	115347501	78	35692											
MAGED2	10916	broad.mit.edu	37	chrX	54836552	54836552	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgaggctgcaccctctcaggCcccagcagatgaacctgagc	11	15	1	4			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chrX:54836552C>G	uc004dtk.1	+	3	537	c.443C>G	c.(442-444)GCC>GGC	p.A148G	MAGED2_uc004dtl.1_Missense_Mutation_p.A148G|MAGED2_uc004dtm.1_Missense_Mutation_p.A110G|MAGED2_uc010nkc.1_Missense_Mutation_p.A148G|MAGED2_uc004dtn.1_Missense_Mutation_p.A148G|MAGED2_uc004dto.1_Missense_Mutation_p.A122G	NM_177433	NP_803182	Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	148										ovary(2)|breast(1)	3						CCCTCTCAGGCCCCAGCAGAT	0.542													G	54836552	C	G	54836552	3	3	40	1	0	0	0	0	1	0	0	0	9184	739	26	5	449	5	MAGED2	23	54836552	Missense_Mutation	SNP	C	TCGA-BR-6707-01A-11D-1882-08	14913493	54836552	100434008	79	35693											
SLITRK2	84631	broad.mit.edu	37	chrX	144905746	144905746	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatacagacacacctcggtcGcttagtgtgtctcctagttc	8	12	1	1			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chrX:144905746G>T	uc004fcd.2	+	5	2793	c.1803G>T	c.(1801-1803)TCG>TCT	p.S601S	SLITRK2_uc010nsp.2_Silent_p.S601S|SLITRK2_uc010nso.2_Silent_p.S601S|SLITRK2_uc011mwq.1_Silent_p.S601S|SLITRK2_uc011mwr.1_Silent_p.S601S|SLITRK2_uc011mws.1_Silent_p.S601S|SLITRK2_uc004fcg.2_Silent_p.S601S|SLITRK2_uc011mwt.1_Silent_p.S601S	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	601	Extracellular (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CACCTCGGTCGCTTAGTGTGT	0.438													T	144905746	G	T	144905746	2	4	40	1	0	0	0	0	0	0	0	1	14743	1074	38	5		5	SLITRK2	23	144905746	Silent	SNP	G	TCGA-BR-6707-01A-11D-1882-08	90069194	144905746	10364814	80	35694											
SCN4A	6329	broad.mit.edu	37	chr17	62029035	62029052	+	In_Frame_Del	DEL	CAGCCTCCCCGGCCCCGT	CAGCCTCCCCGGCCCCGT	-													ggcagtctcccccgcctctcCagcctccccggccccgtcag							TCGA-BR-6710-01A-11D-1882-08	TCGA-BR-6710-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ac26947-8faf-433c-bc25-025d9a45c055	d0a9ab78-b60a-427b-8e96-c761aecea65d	g.chr17:62029035_62029052delCAGCCTCCCCGGCCCCGT	uc002jds.1	-	14	2662_2679	c.2585_2602delACGGGGCCGGGGAGGCTG	c.(2584-2604)GACGGGGCCGGGGAGGCTGGA>GGA	p.DGAGEA862del		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	862_867					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	CCCGCCTCTCCAGCCTCCCCGGCCCCGTCAGCCTCCCC	0.633													-	62029052	CAGCCTCCCCGGCCCCGT	-	62029035	7	5	41	1	0	1	0	1	0	0	0	0	13920	603	21	0	2952	0	SCN4A	17	62029035	In_Frame_Del	DEL	CAGCCTCCCCGGCCCCGT	TCGA-BR-6710-01A-11D-1882-08		62029035	19166175	1	35695											
ASAP3	55616	broad.mit.edu	37	chr1	23763702	23763702	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagctttgtgaggtcgtgCggctccccatcatggccggc	14	13	1	1			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr1:23763702C>T	uc001bha.2	-	14	1387	c.1263G>A	c.(1261-1263)CCG>CCA	p.P421P	ASAP3_uc001bgy.1_5'Flank|ASAP3_uc001bgz.1_5'Flank|ASAP3_uc010odz.1_Silent_p.P290P|ASAP3_uc010oea.1_Silent_p.P412P|ASAP3_uc001bhb.2_5'UTR	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	421					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						TGAGGTCGTGCGGCTCCCCAT	0.701													T	23763702	C	T	23763702	2	4	42	1	0	0	0	0	0	0	0	1	1012	755	27	1		1	ASAP3	1	23763702	Silent	SNP	C	TCGA-BR-6801-01A-11D-1882-08		23763702	225486919	1	35696											
COL9A2	1298	broad.mit.edu	37	chr1	40775783	40775783	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcaaaaagaggcttacCggtggcccagtggcaccgat	15	10	0	1			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr1:40775783C>T	uc001cfh.1	-	15	862	c.792G>A	c.(790-792)CCG>CCA	p.P264P	COL9A2_uc001cfi.1_Silent_p.P83P	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	alpha 2 type IX collagen precursor	264	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				ovary(2)	2	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			AGAGGCTTACCGGTGGCCCAG	0.612													T	40775783	C	T	40775783	2	4	42	1	0	0	0	0	0	0	0	1	3708	666	23	1		1	COL9A2	1	40775783	Silent	SNP	C	TCGA-BR-6801-01A-11D-1882-08	17012081	40775783	208474838	2	35697											
SMG5	23381	broad.mit.edu	37	chr1	156235937	156235937	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caccttcaagactcttgtcaGagccactgtctgagccctca	7	15	5	3			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr1:156235937G>A	uc001foc.3	-	12	1639	c.1490C>T	c.(1489-1491)TCT>TTT	p.S497F	SMG5_uc009wrv.2_5'UTR	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	497					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					ACTCTTGTCAGAGCCACTGTC	0.532													A	156235937	G	A	156235937	3	1	42	1	0	0	0	0	1	0	0	0	14796	942	33	4	1604	4	SMG5	1	156235937	Missense_Mutation	SNP	G	TCGA-BR-6801-01A-11D-1882-08	115460154	156235937	93014684	3	35698											
SPTA1	6708	broad.mit.edu	37	chr1	158651377	158651377	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatactgctggaacttcagGgcccgcagcaactggtcacc	10	14	2	0			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr1:158651377G>A	uc001fst.1	-	4	670	c.471C>T	c.(469-471)GCC>GCT	p.A157A		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	157					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GGAACTTCAGGGCCCGCAGCA	0.527													A	158651377	G	A	158651377	2	1	42	1	0	0	0	0	0	0	0	1	15115	1219	43	4		4	SPTA1	1	158651377	Silent	SNP	G	TCGA-BR-6801-01A-11D-1882-08	2415440	158651377	90599244	4	35699											
OBSCN	84033	broad.mit.edu	37	chr1	228479801	228479801	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggcctggccatggcggaCgccggggagtacttgtgtgt	18	9	0	0			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr1:228479801C>T	uc009xez.1	+	39	10586	c.10542C>T	c.(10540-10542)GAC>GAT	p.D3514D	OBSCN_uc001hsn.2_Silent_p.D3514D|OBSCN_uc001hsq.1_Silent_p.D770D	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3514	Ig-like 35.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CCATGGCGGACGCCGGGGAGT	0.622													T	228479801	C	T	228479801	2	4	42	1	0	0	0	0	0	0	0	1	10812	535	19	1		1	OBSCN	1	228479801	Silent	SNP	C	TCGA-BR-6801-01A-11D-1882-08	69828424	228479801	20770820	5	35700											
LRP1B	53353	broad.mit.edu	37	chr2	141299517	141299517	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagccaaactgaggaaagtCcctggcccagatttaactat	8	11	0	2			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr2:141299517C>T	uc002tvj.1	-	44	8190	c.7218G>A	c.(7216-7218)GGG>GGA	p.G2406G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2406	Extracellular (Potential).|LDL-receptor class B 26.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGAGGAAAGTCCCTGGCCCAG	0.363										TSP Lung(27;0.18)			T	141299517	C	T	141299517	2	4	42	1	0	0	0	0	0	0	0	1	8955	842	30	4		4	LRP1B	2	141299517	Silent	SNP	C	TCGA-BR-6801-01A-11D-1882-08		141299517	101899856	6	35701											
NEB	4703	broad.mit.edu	37	chr2	152486101	152486101	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccacgatggggatggcGtcacttcgcaagtcgtagcc	14	12	1	0			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr2:152486101G>A	uc010fnx.2	-	64	9245	c.9054C>T	c.(9052-9054)GAC>GAT	p.D3018D	NEB_uc002txu.2_Silent_p.D365D	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3018	Nebulin 82.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGGGATGGCGTCACTTCGCA	0.458													A	152486101	G	A	152486101	2	1	42	1	0	0	0	0	0	0	0	1	10302	1136	40	1		1	NEB	2	152486101	Silent	SNP	G	TCGA-BR-6801-01A-11D-1882-08	11186584	152486101	90713272	7	35702											
NR4A2	4929	broad.mit.edu	37	chr2	157186116	157186116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggacgtgcaggggcccgtCgaagcgcatctggcaactag	17	11	1	0			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr2:157186116C>T	uc002tyz.3	-	3	1005	c.583G>A	c.(583-585)GAC>AAC	p.D195N	NR4A2_uc002tyx.3_Missense_Mutation_p.D132N|NR4A2_uc010zcf.1_Missense_Mutation_p.D195N|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	195	Pro-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						AGGGGCCCGTCGAAGCGCATC	0.657													T	157186116	C	T	157186116	3	4	42	1	0	0	0	0	1	0	0	0	10633	884	31	1	1237	1	NR4A2	2	157186116	Missense_Mutation	SNP	C	TCGA-BR-6801-01A-11D-1882-08	4700015	157186116	86013257	8	35703											
TRANK1	9881	broad.mit.edu	37	chr3	36869827	36869827	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taggccgaagctcaccaaagTcttcaacttcattttcataa	5	11	5	0			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr3:36869827T>A	uc003cgj.2	-	14	7369	c.7067A>T	c.(7066-7068)GAC>GTC	p.D2356V		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2906					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						CTCACCAAAGTCTTCAACTTC	0.313													A	36869827	T	A	36869827	3	1	42	1	0	0	0	0	1	0	0	0	16451	1667	58	5	64	5	TRANK1	3	36869827	Missense_Mutation	SNP	T	TCGA-BR-6801-01A-11D-1882-08		36869827	161152603	9	35704											
SCN10A	6336	broad.mit.edu	37	chr3	38739967	38739967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggatcagtctgaggatgcGgccaattcgggccaggcgga	16	10	2	1			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr3:38739967G>A	uc003ciq.2	-	27	4744	c.4744C>T	c.(4744-4746)CGC>TGC	p.R1582C		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1582	IV.|Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTGAGGATGCGGCCAATTCGG	0.517													A	38739967	G	A	38739967	3	1	42	1	0	0	0	0	1	0	0	0	13912	1116	39	1	1130	1	SCN10A	3	38739967	Missense_Mutation	SNP	G	TCGA-BR-6801-01A-11D-1882-08	1870140	38739967	159282463	10	35705											
KIAA1524	57650	broad.mit.edu	37	chr3	108273290	108273290	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatttgtttattcagagaatCacatgtgatctgtaaatctt	6	5	4	2			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr3:108273290C>T	uc003dxb.3	-	18	2526	c.2257G>A	c.(2257-2259)GAT>AAT	p.D753N		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	753	Potential.					cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3						TTCAGAGAATCACATGTGATC	0.303													T	108273290	C	T	108273290	3	4	42	1	0	0	0	0	1	0	0	0	8239	826	29	4	476	4	KIAA1524	3	108273290	Missense_Mutation	SNP	C	TCGA-BR-6801-01A-11D-1882-08	69533323	108273290	89749140	11	35706											
C4orf44	345222	broad.mit.edu	37	chr4	3251150	3251150	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcttcgacgagctcaagcaGaccaagcgcaacgccaaggt	10	13	2	1			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr4:3251150G>C	uc003ggs.2	+	1	384	c.201G>C	c.(199-201)CAG>CAC	p.Q67H	C4orf44_uc003ggt.2_Missense_Mutation_p.Q67H	NM_001042690	NP_001036155	Q6ZTZ1	CD044_HUMAN	hypothetical protein LOC345222 isoform a	67											0						AGCTCAAGCAGACCAAGCGCA	0.632													C	3251150	G	C	3251150	3	2	42	1	0	0	0	0	1	0	0	0	2272	933	33	5	203	5	C4orf44	4	3251150	Missense_Mutation	SNP	G	TCGA-BR-6801-01A-11D-1882-08		3251150	187903126	12	35707											
GRID2	2895	broad.mit.edu	37	chr4	94344114	94344114	+	Frame_Shift_Del	DEL	T	T	-													gcttggtaggagaacttgtcTttaaggtaagaattacttta							TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr4:94344114delT	uc011cdt.1	+	10	1798	c.1540delT	c.(1540-1542)TTTfs	p.F514fs	GRID2_uc011cdu.1_Frame_Shift_Del_p.F419fs	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	514	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGAACTTGTCTTTAAGGTAAG	0.373													-	94344114	T	-	94344114	7	5	42	1	0	1	0	1	0	0	0	0	6772	1609	56	0	1578	0	GRID2	4	94344114	Frame_Shift_Del	DEL	T	TCGA-BR-6801-01A-11D-1882-08	91092964	94344114	96810162	13	35708											
ADH1C	126	broad.mit.edu	37	chr4	100268233	100268236	+	Frame_Shift_Del	DEL	AGGA	AGGA	-													gcctcatggcctaaaatcacAggaaggggggtcaccaggtt							TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr4:100268233_100268236delAGGA	uc003huu.2	-	3	271_274	c.186_189delTCCT	c.(184-189)CTTCCTfs	p.L62fs		NM_000669	NP_000660	P00326	ADH1G_HUMAN	class I alcohol dehydrogenase, gamma subunit	62_63					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTAAAATCACAGGAAGGGGGGTCA	0.485									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				-	100268236	AGGA	-	100268233	7	5	42	1	0	1	0	1	0	0	0	0	309	175	7	0	966	0	ADH1C	4	100268233	Frame_Shift_Del	DEL	AGGA	TCGA-BR-6801-01A-11D-1882-08	5924119	100268233	90886043	14	35709											
ADCY2	108	broad.mit.edu	37	chr5	7695884	7695884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcttatacgctgacatcGttggctttacccggctggca	10	12	1	1			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr5:7695884G>A	uc003jdz.1	+	6	956	c.889G>A	c.(889-891)GTT>ATT	p.V297I	ADCY2_uc011cmo.1_Missense_Mutation_p.V117I	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	297	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						CGCTGACATCGTTGGCTTTAC	0.408													A	7695884	G	A	7695884	3	1	42	1	0	0	0	0	1	0	0	0	294	1145	40	1	911	1	ADCY2	5	7695884	Missense_Mutation	SNP	G	TCGA-BR-6801-01A-11D-1882-08		7695884	173219376	15	35710											
CDC5L	988	broad.mit.edu	37	chr6	44392169	44392169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctacaggaaagagaatcccGagaacatctccgtttagggt	10	9	2	2			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr6:44392169G>A	uc003oxl.2	+	11	1677	c.1418G>A	c.(1417-1419)CGA>CAA	p.R473Q		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	473	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGAGAATCCCGAGAACATCTC	0.378													A	44392169	G	A	44392169	3	1	42	1	0	0	0	0	1	0	0	0	3082	1058	37	1	1460	1	CDC5L	6	44392169	Missense_Mutation	SNP	G	TCGA-BR-6801-01A-11D-1882-08		44392169	126722898	16	35711											
LANCL2	55915	broad.mit.edu	37	chr7	55492979	55492979	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagaagtacttgaaagaggcCatggagtgtagcgatgtgat	15	4	0	4			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr7:55492979C>G	uc003tqp.2	+	7	1619	c.1041C>G	c.(1039-1041)GCC>GCG	p.A347A		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	347					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			ovary(1)|skin(1)	2	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TGAAAGAGGCCATGGAGTGTA	0.468													G	55492979	C	G	55492979	2	3	42	1	0	0	0	0	0	0	0	1	8621	581	21	5		5	LANCL2	7	55492979	Silent	SNP	C	TCGA-BR-6801-01A-11D-1882-08		55492979	103645684	17	35712											
AKAP9	10142	broad.mit.edu	37	chr7	91682266	91682266	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagccataagtgaaactagCagtcaggtaacctccttata	8	9	1	1			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr7:91682266C>T	uc003ulg.2	+	22	5820	c.5595C>T	c.(5593-5595)AGC>AGT	p.S1865S	AKAP9_uc003ulf.2_Silent_p.S1865S|AKAP9_uc003uli.2_Silent_p.S1488S	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1877	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTGAAACTAGCAGTCAGGTAA	0.368			T	BRAF	papillary thyroid								T	91682266	C	T	91682266	2	4	42	1	0	0	0	0	0	0	0	1	459	709	25	2		2	AKAP9	7	91682266	Silent	SNP	C	TCGA-BR-6801-01A-11D-1882-08	36189287	91682266	67456397	18	35713											
C7orf33	202865	broad.mit.edu	37	chr7	148311189	148311189	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaatttattgctcctgtatCagctcccaccaaatctggtg	8	11	2	0			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr7:148311189C>T	uc003wew.2	+	2	621	c.260C>T	c.(259-261)TCA>TTA	p.S87L		NM_145304	NP_660347	Q8WU49	CG033_HUMAN	hypothetical protein LOC202865	87										central_nervous_system(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCTCCTGTATCAGCTCCCACC	0.493													T	148311189	C	T	148311189	3	4	42	1	0	0	0	0	1	0	0	0	2388	838	29	4	266	4	C7orf33	7	148311189	Missense_Mutation	SNP	C	TCGA-BR-6801-01A-11D-1882-08	56628923	148311189	10827474	19	35714											
GPR124	25960	broad.mit.edu	37	chr8	37691340	37691340	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaaatttttgggttatgtCgaccagatcaaagaggtgag	12	5	1	4			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr8:37691340C>T	uc003xkj.2	+	10	1794	c.1431C>T	c.(1429-1431)GTC>GTT	p.V477V	GPR124_uc010lvy.2_Silent_p.V477V	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	477	Extracellular (Potential).				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGGGTTATGTCGACCAGATCA	0.527													T	37691340	C	T	37691340	2	4	42	1	0	0	0	0	0	0	0	1	6638	871	31	1		1	GPR124	8	37691340	Silent	SNP	C	TCGA-BR-6801-01A-11D-1882-08		37691340	108672682	20	35715											
NBN	4683	broad.mit.edu	37	chr8	90965531	90965531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgtcatttgtttctatatCcatccttggcctttttctaa	5	9	3	0			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr8:90965531C>T	uc003yej.1	-	11	1896	c.1786G>A	c.(1786-1788)GAT>AAT	p.D596N	NBN_uc003yei.1_Missense_Mutation_p.D514N|NBN_uc011lgb.1_Missense_Mutation_p.D596N	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	596					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GTTTCTATATCCATCCTTGGC	0.338								Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome				T	90965531	C	T	90965531	3	4	42	1	0	0	0	0	1	0	0	0	10191	855	30	4	502	4	NBN	8	90965531	Missense_Mutation	SNP	C	TCGA-BR-6801-01A-11D-1882-08	53274191	90965531	55398491	21	35716											
TLN1	7094	broad.mit.edu	37	chr9	35714789	35714789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagcaggggctgggggcCggcagaggccttgggggtag	21	10	0	1			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr9:35714789C>T	uc003zxt.2	-	22	3193	c.2839G>A	c.(2839-2841)GGC>AGC	p.G947S		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	947					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGCTGGGGGCCGGCAGAGGCC	0.587													T	35714789	C	T	35714789	3	4	42	1	0	0	0	0	1	0	0	0	15944	652	23	1	4930	1	TLN1	9	35714789	Missense_Mutation	SNP	C	TCGA-BR-6801-01A-11D-1882-08		35714789	105498642	22	35717											
ZNF658	26149	broad.mit.edu	37	chr9	40772474	40772474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacattcgtagggtttctccCccgtatgaactctctgatgt	8	11	2	2			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr9:40772474C>T	uc004abs.2	-	5	2953	c.2801G>A	c.(2800-2802)GGG>GAG	p.G934E	ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.G934E	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	zinc finger protein 658	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGGTTTCTCCCCCGTATGAAC	0.438													T	40772474	C	T	40772474	3	4	42	1	0	0	0	0	1	0	0	0	18066	623	22	4	382	4	ZNF658	9	40772474	Missense_Mutation	SNP	C	TCGA-BR-6801-01A-11D-1882-08	5057685	40772474	100440957	23	35718											
ZBTB43	23099	broad.mit.edu	37	chr9	129594921	129594921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtccaaggccacattttcCgggcacacaaagccgttctt	8	13	1	0			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr9:129594921C>T	uc004bql.2	+	3	406	c.133C>T	c.(133-135)CGG>TGG	p.R45W	ZBTB43_uc010mxf.2_Missense_Mutation_p.R45W	NM_014007	NP_054726	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	45	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCACATTTTCCGGGCACACAA	0.473													T	129594921	C	T	129594921	3	4	42	1	0	0	0	0	1	0	0	0	17541	643	23	1	135	1	ZBTB43	9	129594921	Missense_Mutation	SNP	C	TCGA-BR-6801-01A-11D-1882-08	88822447	129594921	11618510	24	35719											
MUC6	4588	broad.mit.edu	37	chr11	1016198	1016200	+	In_Frame_Del	DEL	AGA	AGA	-													atggtagtagaggcagctggAgaagaaggaaaaagaggaga							TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr11:1016198_1016200delAGA	uc001lsw.2	-	31	6652_6654	c.6601_6603delTCT	c.(6601-6603)TCTdel	p.S2201del		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	2201	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGCAGCTGGAGAAGAAGGAAAA	0.557													-	1016200	AGA	-	1016198	7	5	42	1	0	1	0	1	0	0	0	0	9980	291	11	0	728	0	MUC6	11	1016198	In_Frame_Del	DEL	AGA	TCGA-BR-6801-01A-11D-1882-08		1016198	133990318	25	35720											
PGR	5241	broad.mit.edu	37	chr11	100999115	100999115	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggacccgcagactcctcGgactcagagccatcctcctc	9	18	1	2			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr11:100999115G>A	uc001pgh.2	-	1	1430	c.687C>T	c.(685-687)TCC>TCT	p.S229S	PGR_uc001pgi.2_Silent_p.S229S|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	229	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CAGACTCCTCGGACTCAGAGC	0.721													A	100999115	G	A	100999115	2	1	42	1	0	0	0	0	0	0	0	1	11805	1103	39	1		1	PGR	11	100999115	Silent	SNP	G	TCGA-BR-6801-01A-11D-1882-08	99982917	100999115	34007401	26	35721											
BCL9L	283149	broad.mit.edu	37	chr11	118770652	118770653	+	Frame_Shift_Ins	INS	-	-	G													ggagccctgcggtggtggtgINSgggggggcagcaggggccgg					rs139987150		TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr11:118770651_118770652T>TG	uc001pug.3	-	6	4345_4346	c.3380_3381A>CA	c.(3379-3381)ccafs	p.P1127fs	BCL9L_uc009zal.3_Frame_Shift_Ins_p.P1122fs	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1127	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCGGTGGTGGTGGGGGGGGCAG	0.703													G	118770653	-	G	118770652	7	5	42	1	0	1	1	0	0	0	0	0	1382	1348	47	0	1127	0	BCL9L	11	118770652	Frame_Shift_Ins	INS	-	TCGA-BR-6801-01A-11D-1882-08	17771537	118770652	16235864	27	35722											
HOXC11	3227	broad.mit.edu	37	chr12	54367430	54367430	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccgcacgcaacccccgcCggcttctactcctcagtcaa	7	21	3	0	rs139414813		TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr12:54367430C>T	uc001sem.2	+	1	521	c.405C>T	c.(403-405)GCC>GCT	p.A135A		NM_014212	NP_055027	O43248	HXC11_HUMAN	homeobox C11	135					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CAACCCCCGCCGGCTTCTACT	0.657			T	NUP98	AML								T	54367430	C	T	54367430	2	4	42	1	0	0	0	0	0	0	0	1	7310	639	23	1		1	HOXC11	12	54367430	Silent	SNP	C	TCGA-BR-6801-01A-11D-1882-08		54367430	79484465	28	35723											
GTSF1	121355	broad.mit.edu	37	chr12	54858935	54858935	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcattgcaatagcttctcAgggtccagggagtcggctga	15	9	1	1			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr12:54858935A>G	uc001sgb.2	-	3	119	c.33T>C	c.(31-33)CCT>CCC	p.P11P		NM_144594	NP_653195	Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	11							metal ion binding				0		Myeloproliferative disorder(1001;0.00452)				ATAGCTTCTCAGGGTCCAGGG	0.428													G	54858935	A	G	54858935	2	3	42	1	0	0	0	0	0	0	0	1	6886	175	7	3		3	GTSF1	12	54858935	Silent	SNP	A	TCGA-BR-6801-01A-11D-1882-08	491505	54858935	78992960	29	35724											
MBD6	114785	broad.mit.edu	37	chr12	57921732	57921733	+	Frame_Shift_Ins	INS	-	-	G													ggggctgcagctcctccctgINSgggggggagctcctccaccc							TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr12:57921731_57921732T>TG	uc001soj.1	+	8	2561_2562	c.2337_2338T>TG	c.(2335-2340)cctgggfs	p.P779fs	MBD6_uc001sok.1_Frame_Shift_Ins_p.P646fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	779	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AGCTCCTCCCTGGGGGGGGAGC	0.629													G	57921733	-	G	57921732	7	5	42	1	0	1	1	0	0	0	0	0	9348	1348	47	0	2364	0	MBD6	12	57921732	Frame_Shift_Ins	INS	-	TCGA-BR-6801-01A-11D-1882-08	3062797	57921732	75930163	30	35725											
ATP2A2	488	broad.mit.edu	37	chr12	110783130	110783130	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatctttgaatccccataccCgatgacaatggcgctctctg	7	13	2	2			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr12:110783130C>A	uc001tqk.3	+	18	3247	c.2684C>A	c.(2683-2685)CCG>CAG	p.P895Q	ATP2A2_uc001tql.3_Missense_Mutation_p.P895Q|ATP2A2_uc010sxy.1_Missense_Mutation_p.P868Q|ATP2A2_uc001tqn.3_5'Flank|ATP2A2_uc009zvn.2_5'Flank	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	895	Lumenal (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)|skin(1)	4						TCCCCATACCCGATGACAATG	0.473													A	110783130	C	A	110783130	3	1	42	1	0	0	0	0	1	0	0	0	1137	652	23	5	2754	5	ATP2A2	12	110783130	Missense_Mutation	SNP	C	TCGA-BR-6801-01A-11D-1882-08	52861398	110783130	23068765	31	35726											
DDX54	79039	broad.mit.edu	37	chr12	113603453	113603453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccggccccactcaccgccCgggagcggtagttctttatg	11	16	2	0	rs58401684	byFrequency	TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr12:113603453C>T	uc001tup.2	-	14	1743	c.1715G>A	c.(1714-1716)CGG>CAG	p.R572Q	DDX54_uc001tuq.3_Missense_Mutation_p.R572Q	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	572					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						ACTCACCGCCCGGGAGCGGTA	0.468													T	113603453	C	T	113603453	3	4	42	1	0	0	0	0	1	0	0	0	4372	652	23	1	961	1	DDX54	12	113603453	Missense_Mutation	SNP	C	TCGA-BR-6801-01A-11D-1882-08	2820323	113603453	20248442	32	35727											
FBXL3	26224	broad.mit.edu	37	chr13	77595766	77595766	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcagttcaaattcaaaacatCtccacaagtcaggcatgtga	6	10	5	1			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr13:77595766C>A	uc001vkd.2	-	2	601	c.230G>T	c.(229-231)AGA>ATA	p.R77I		NM_012158	NP_036290	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	77	F-box.				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity				0		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TTCAAAACATCTCCACAAGTC	0.393													A	77595766	C	A	77595766	3	1	42	1	0	0	0	0	1	0	0	0	5720	913	32	5	1072	5	FBXL3	13	77595766	Missense_Mutation	SNP	C	TCGA-BR-6801-01A-11D-1882-08		77595766	37574112	33	35728											
CEBPE	1053	broad.mit.edu	37	chr14	23587828	23587828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggccgggtgctgccagaGttgggggcaggtgcatggct	20	9	0	1			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr14:23587828G>A	uc001wiv.1	-	1	647	c.473C>T	c.(472-474)ACT>ATT	p.T158I		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein epsilon	158						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TGCTGCCAGAGTTGGGGGCAG	0.682													A	23587828	G	A	23587828	3	1	42	1	0	0	0	0	1	0	0	0	3202	1029	36	4	380	4	CEBPE	14	23587828	Missense_Mutation	SNP	G	TCGA-BR-6801-01A-11D-1882-08		23587828	83761712	34	35729											
FOXG1	2290	broad.mit.edu	37	chr14	29237757	29237757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccccacgtcccgcacccGtcaatgacttcgcagagcag	8	18	1	2			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr14:29237757G>A	uc001wqe.2	+	1	1471	c.1272G>A	c.(1270-1272)CCG>CCA	p.P424P		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	424					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TCCCGCACCCGTCAATGACTT	0.657													A	29237757	G	A	29237757	2	1	42	1	0	0	0	0	0	0	0	1	6007	1132	40	1		1	FOXG1	14	29237757	Silent	SNP	G	TCGA-BR-6801-01A-11D-1882-08	5649929	29237757	78111783	35	35730											
SIPA1L1	26037	broad.mit.edu	37	chr14	72055091	72055091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctcccccagaaaagctcttCgcagaatacgccagcgaagc	9	15	1	2			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr14:72055091C>T	uc001xms.2	+	2	850	c.502C>T	c.(502-504)CGC>TGC	p.R168C	SIPA1L1_uc001xmt.2_Missense_Mutation_p.R168C|SIPA1L1_uc001xmu.2_Missense_Mutation_p.R168C|SIPA1L1_uc001xmv.2_Missense_Mutation_p.R168C	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	168					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AAAAGCTCTTCGCAGAATACG	0.468													T	72055091	C	T	72055091	3	4	42	1	0	0	0	0	1	0	0	0	14329	884	31	1	504	1	SIPA1L1	14	72055091	Missense_Mutation	SNP	C	TCGA-BR-6801-01A-11D-1882-08	42817334	72055091	35294449	36	35731											
DUOX1	53905	broad.mit.edu	37	chr15	45433241	45433241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggctacgggatggtgaccGctactggtttgagaacacca	14	10	0	2			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr15:45433241G>A	uc001zus.1	+	14	1884	c.1538G>A	c.(1537-1539)CGC>CAC	p.R513H	DUOX1_uc001zut.1_Missense_Mutation_p.R513H|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	513	Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GATGGTGACCGCTACTGGTTT	0.617													A	45433241	G	A	45433241	3	1	42	1	0	0	0	0	1	0	0	0	4800	1087	38	1	1584	1	DUOX1	15	45433241	Missense_Mutation	SNP	G	TCGA-BR-6801-01A-11D-1882-08		45433241	57098151	37	35732											
ATP8B4	79895	broad.mit.edu	37	chr15	50189583	50189583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcataagaatttgcacattCggaaataagaccaccttcca	6	10	0	2			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr15:50189583C>T	uc001zxu.2	-	23	2745	c.2603G>A	c.(2602-2604)CGA>CAA	p.R868Q	ATP8B4_uc010ber.2_Missense_Mutation_p.R741Q|ATP8B4_uc010ufd.1_Missense_Mutation_p.R678Q|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxv.1_Missense_Mutation_p.R166Q	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	868	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTTGCACATTCGGAAATAAGA	0.403													T	50189583	C	T	50189583	3	4	42	1	0	0	0	0	1	0	0	0	1197	884	31	1	999	1	ATP8B4	15	50189583	Missense_Mutation	SNP	C	TCGA-BR-6801-01A-11D-1882-08	4756342	50189583	52341809	38	35733											
VPS13C	54832	broad.mit.edu	37	chr15	62237921	62237921	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttaaaaacttaccaaaagaGacatgaagaatttatgaaca	5	5	0	4			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr15:62237921G>A	uc002agz.2	-	45	5215	c.5141C>T	c.(5140-5142)TCT>TTT	p.S1714F	VPS13C_uc002aha.2_Missense_Mutation_p.S1671F|VPS13C_uc002ahb.1_Missense_Mutation_p.S1714F|VPS13C_uc002ahc.1_Missense_Mutation_p.S1671F	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	1714					protein localization					ovary(2)	2						TACCAAAAGAGACATGAAGAA	0.323													A	62237921	G	A	62237921	3	1	42	1	0	0	0	0	1	0	0	0	17188	942	33	4	6312	4	VPS13C	15	62237921	Missense_Mutation	SNP	G	TCGA-BR-6801-01A-11D-1882-08	12048338	62237921	40293471	39	35734											
IGDCC3	9543	broad.mit.edu	37	chr15	65621886	65621886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggtccctctggctccgggGaccctgtggaggggacagct	17	12	1	0			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr15:65621886G>A	uc002aos.2	-	13	2299	c.2047C>T	c.(2047-2049)CCC>TCC	p.P683S	IGDCC3_uc002aor.1_5'UTR	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	683	Cytoplasmic (Potential).									ovary(3)	3						TGGCTCCGGGGACCCTGTGGA	0.597													A	65621886	G	A	65621886	3	1	42	1	0	0	0	0	1	0	0	0	7568	1174	41	4	405	4	IGDCC3	15	65621886	Missense_Mutation	SNP	G	TCGA-BR-6801-01A-11D-1882-08	3383965	65621886	36909506	40	35735											
ISLR2	57611	broad.mit.edu	37	chr15	74425927	74425927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggcaacttcagatccccGgtggcaccgtagtcttagag	11	11	2	2			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr15:74425927G>A	uc002axd.2	+	4	1601	c.832G>A	c.(832-834)GGT>AGT	p.G278S	ISLR2_uc002axe.2_Missense_Mutation_p.G278S|ISLR2_uc010bjg.2_Missense_Mutation_p.G278S|ISLR2_uc010bjf.2_Missense_Mutation_p.G278S	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	278	Ig-like.|Extracellular (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						TCAGATCCCCGGTGGCACCGT	0.468													A	74425927	G	A	74425927	3	1	42	1	0	0	0	0	1	0	0	0	7859	1116	39	1	834	1	ISLR2	15	74425927	Missense_Mutation	SNP	G	TCGA-BR-6801-01A-11D-1882-08	8804041	74425927	28105465	41	35736											
DNAJA2	10294	broad.mit.edu	37	chr16	47005450	47005450	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	actcacgcttctcaggatttGatagtacttcatatgcaaaa	6	9	3	1			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr16:47005450G>C	uc002eeo.2	-	3	315	c.173C>G	c.(172-174)TCA>TGA	p.S58*	DNAJA2_uc002eep.2_Translation_Start_Site	NM_005880	NP_005871	O60884	DNJA2_HUMAN	DnaJ subfamily A member 2	58	J.				positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			lung(1)	1		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				CTCAGGATTTGATAGTACTTC	0.383													C	47005450	G	C	47005450	4	2	42	1	0	0	0	0	0	1	0	0	4612	1294	45	5	1093	5	DNAJA2	16	47005450	Nonsense_Mutation	SNP	G	TCGA-BR-6801-01A-11D-1882-08		47005450	43349303	42	35737											
SPG7	6687	broad.mit.edu	37	chr16	89611154	89611154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccgactggaccggcacGtcttcattgatctccccacg	10	16	3	1			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr16:89611154G>A	uc002fnj.2	+	10	1444	c.1423G>A	c.(1423-1425)GTC>ATC	p.V475I	SPG7_uc002fnk.1_RNA	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	475	Mitochondrial matrix (Potential).				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GGACCGGCACGTCTTCATTGA	0.627													A	89611154	G	A	89611154	3	1	42	1	0	0	0	0	1	0	0	0	15043	1145	40	1	1611	1	SPG7	16	89611154	Missense_Mutation	SNP	G	TCGA-BR-6801-01A-11D-1882-08	42605704	89611154	743599	43	35738											
PELP1	27043	broad.mit.edu	37	chr17	4576196	4576196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggaggtccagggcgtgccGagggcacagggcctgctgag	20	10	0	1			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr17:4576196G>A	uc002fyi.3	-	16	2316	c.2090C>T	c.(2089-2091)TCG>TTG	p.S697L	PELP1_uc010vsf.1_Missense_Mutation_p.S550L	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	697	Pro-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2						AGGGCGTGCCGAGGGCACAGG	0.677													A	4576196	G	A	4576196	3	1	42	1	0	0	0	0	1	0	0	0	11725	1059	37	1	1310	1	PELP1	17	4576196	Missense_Mutation	SNP	G	TCGA-BR-6801-01A-11D-1882-08		4576196	76619014	44	35739											
TRIM16	10626	broad.mit.edu	37	chr17	15539380	15539380	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacagtgttgctgatggcCgccatcctctccagctcctg	11	14	1	1			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr17:15539380C>T	uc002gox.2	-	6	1376	c.819G>A	c.(817-819)GCG>GCA	p.A273A	TRIM16_uc002gor.1_Silent_p.A273A|TRIM16_uc002gow.2_Silent_p.A57A|TRIM16_uc002goy.2_Silent_p.A143A	NM_006470	NP_006461	O95361	TRI16_HUMAN	tripartite motif-containing 16	273	Potential.				histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding			ovary(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		TGCTGATGGCCGCCATCCTCT	0.607													T	15539380	C	T	15539380	2	4	42	1	0	0	0	0	0	0	0	1	16488	639	23	1		1	TRIM16	17	15539380	Silent	SNP	C	TCGA-BR-6801-01A-11D-1882-08	10963184	15539380	65655830	45	35740											
DNAH17	8632	broad.mit.edu	37	chr17	76457765	76457765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagctcagcctcctgaatcGccaacttggctttcaaatca	7	13	3	2			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr17:76457765G>A	uc010dhp.1	-	3	422	c.200C>T	c.(199-201)GCG>GTG	p.A67V	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)			CTCCTGAATCGCCAACTTGGC	0.577													A	76457765	G	A	76457765	3	1	42	1	0	0	0	0	1	0	0	0	4601	1087	38	1	4284	1	DNAH17	17	76457765	Missense_Mutation	SNP	G	TCGA-BR-6801-01A-11D-1882-08	60918385	76457765	4737445	46	35741											
LAMA1	284217	broad.mit.edu	37	chr18	6974963	6974963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtctggaaactccaagcGtgtggacccggagcccaggt	13	11	1	0			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr18:6974963G>A	uc002knm.2	-	46	6656	c.6562C>T	c.(6562-6564)CGC>TGC	p.R2188C	LAMA1_uc010wzj.1_Missense_Mutation_p.R1664C	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2188	Laminin G-like 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)	AACTCCAAGCGTGTGGACCCG	0.532													A	6974963	G	A	6974963	3	1	42	1	0	0	0	0	1	0	0	0	8605	1145	40	1	2737	1	LAMA1	18	6974963	Missense_Mutation	SNP	G	TCGA-BR-6801-01A-11D-1882-08		6974963	71102285	47	35742											
FBN3	84467	broad.mit.edu	37	chr19	8156417	8156417	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactggaagctcccagggCtgttggtacaggtgccaaag	15	10	0	0			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr19:8156417C>G	uc002mjf.2	-	47	5984	c.5963G>C	c.(5962-5964)AGC>ACC	p.S1988T	FBN3_uc002mje.2_5'Flank	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1988	EGF-like 32; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GCTCCCAGGGCTGTTGGTACA	0.592													G	8156417	C	G	8156417	3	3	42	1	0	0	0	0	1	0	0	0	5704	797	28	5	2534	5	FBN3	19	8156417	Missense_Mutation	SNP	C	TCGA-BR-6801-01A-11D-1882-08		8156417	50972566	48	35743											
C19orf57	79173	broad.mit.edu	37	chr19	14000238	14000238	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcacaacagaggcttgCggggacacacggaacccctc	11	15	0	1			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr19:14000238C>T	uc002mxl.1	-	6	1490	c.1431G>A	c.(1429-1431)CCG>CCA	p.P477P	C19orf57_uc002mxk.1_Silent_p.P359P|C19orf57_uc002mxm.1_Intron	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	477					multicellular organismal development		protein binding			ovary(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CAGAGGCTTGCGGGGACACAC	0.597													T	14000238	C	T	14000238	2	4	42	1	0	0	0	0	0	0	0	1	1939	755	27	1		1	C19orf57	19	14000238	Silent	SNP	C	TCGA-BR-6801-01A-11D-1882-08	5843821	14000238	45128745	49	35744											
PTPRH	5794	broad.mit.edu	37	chr19	55697282	55697282	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccatcacttcctcacctAccagggttacccgcaggtgc	7	17	3	0			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr19:55697282A>G	uc002qjq.2	-	17	2922	c.2849T>C	c.(2848-2850)GTA>GCA	p.V950A	PTPRH_uc010esv.2_Missense_Mutation_p.V772A	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	950	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TTCCTCACCTACCAGGGTTAC	0.627													G	55697282	A	G	55697282	3	3	42	1	0	0	0	0	1	0	0	0	12803	391	14	3	514	3	PTPRH	19	55697282	Missense_Mutation	SNP	A	TCGA-BR-6801-01A-11D-1882-08	41697044	55697282	3431701	50	35745											
FIZ1	84922	broad.mit.edu	37	chr19	56108964	56108964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcagcaggccggtggagtCgcggaaccccttggggcagg	19	11	0	0			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr19:56108964C>T	uc002qli.3	-	2	358	c.268G>A	c.(268-270)GAC>AAC	p.D90N	FIZ1_uc002qlj.3_Missense_Mutation_p.D90N|ZNF524_uc002qlk.1_5'Flank	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	90	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CCGGTGGAGTCGCGGAACCCC	0.682													T	56108964	C	T	56108964	3	4	42	1	0	0	0	0	1	0	0	0	5900	884	31	1	1230	1	FIZ1	19	56108964	Missense_Mutation	SNP	C	TCGA-BR-6801-01A-11D-1882-08	411682	56108964	3020019	51	35746											
ZNF470	388566	broad.mit.edu	37	chr19	57088681	57088681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgggaaagccttcagccAgaatgctcatcttgttcaac	9	10	4	1			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr19:57088681A>G	uc002qnl.3	+	6	1560	c.884A>G	c.(883-885)CAG>CGG	p.Q295R	ZNF470_uc010etn.2_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	295	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GCCTTCAGCCAGAATGCTCAT	0.448													G	57088681	A	G	57088681	3	3	42	1	0	0	0	0	1	0	0	0	17926	188	7	3	898	3	ZNF470	19	57088681	Missense_Mutation	SNP	A	TCGA-BR-6801-01A-11D-1882-08	979717	57088681	2040302	52	35747											
SERINC3	10955	broad.mit.edu	37	chr20	43135528	43135528	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caaaggatcaggttaatactGatgaagaacttgttttctgt	9	5	2	3			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr20:43135528G>C	uc002xme.2	-	6	857	c.723C>G	c.(721-723)ATC>ATG	p.I241M	SERINC3_uc002xmf.1_Missense_Mutation_p.I241M|SERINC3_uc010ggs.1_Missense_Mutation_p.I234M|SERINC3_uc010zwp.1_Missense_Mutation_p.I186M	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	241	Helical; (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GGTTAATACTGATGAAGAACT	0.393													C	43135528	G	C	43135528	3	2	42	1	0	0	0	0	1	0	0	0	14081	1280	45	5	718	5	SERINC3	20	43135528	Missense_Mutation	SNP	G	TCGA-BR-6801-01A-11D-1882-08		43135528	19889992	53	35748											
BCAS1	8537	broad.mit.edu	37	chr20	52645436	52645436	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattctttccgttggcatccGcaacagcacttatctccgtt	7	13	2	0			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr20:52645436G>T	uc002xws.2	-	4	556	c.218C>A	c.(217-219)GCG>GAG	p.A73E	BCAS1_uc010zzb.1_5'UTR|BCAS1_uc010gim.2_5'UTR|BCAS1_uc002xwt.2_Missense_Mutation_p.A73E|BCAS1_uc010gil.1_Missense_Mutation_p.A73E|BCAS1_uc010zzc.1_5'UTR	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	73						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GTTGGCATCCGCAACAGCACT	0.493													T	52645436	G	T	52645436	3	4	42	1	0	0	0	0	1	0	0	0	1350	1087	38	5	1572	5	BCAS1	20	52645436	Missense_Mutation	SNP	G	TCGA-BR-6801-01A-11D-1882-08	9509908	52645436	10380084	54	35749											
ZNF831	128611	broad.mit.edu	37	chr20	57767259	57767259	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcccggggcgcgagaagcCggcctggagctggagaagaa	19	10	0	3			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr20:57767259C>T	uc002yan.2	+	1	1185	c.1185C>T	c.(1183-1185)GCC>GCT	p.A395A		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	395	Potential.					intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					cgcgAGAAGCCGGCCTGGAGC	0.502													T	57767259	C	T	57767259	2	4	42	1	0	0	0	0	0	0	0	1	18182	639	23	1		1	ZNF831	20	57767259	Silent	SNP	C	TCGA-BR-6801-01A-11D-1882-08	5121823	57767259	5258261	55	35750											
TRIOBP	11078	broad.mit.edu	37	chr22	38130723	38130723	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccctgggggctggtgGggatgtggagagcccagcct	20	10	0	1			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr22:38130723G>A	uc003atr.2	+	9	4651	c.4380G>A	c.(4378-4380)TGG>TGA	p.W1460*	TRIOBP_uc003atu.2_Nonsense_Mutation_p.W1288*	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	1460					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					GGGGCTGGTGGGGATGTGGAG	0.687													A	38130723	G	A	38130723	4	1	42	1	0	0	0	0	0	1	0	0	16550	1241	43	4	4406	4	TRIOBP	22	38130723	Nonsense_Mutation	SNP	G	TCGA-BR-6801-01A-11D-1882-08		38130723	13173843	56	35751											
XRCC6	2547	broad.mit.edu	37	chr22	42033616	42033616	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttacccttgcaacaggcatCttccttgacttgatgcacct	6	13	1	2			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chr22:42033616C>T	uc003bao.1	+	6	664	c.594C>T	c.(592-594)ATC>ATT	p.I198I	XRCC6_uc003bap.1_Silent_p.I157I|XRCC6_uc011apc.1_Silent_p.I148I|XRCC6_uc003baq.1_Silent_p.I198I|XRCC6_uc003bar.1_Silent_p.I198I|XRCC6_uc003bas.1_Silent_p.I148I	NM_001469	NP_001460	P12956	XRCC6_HUMAN	ATP-dependent DNA helicase II, 70 kDa subunit	198					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			skin(2)|ovary(1)|lung(1)|kidney(1)	5						CAACAGGCATCTTCCTTGACT	0.418								Direct_reversal_of_damage|NHEJ					T	42033616	C	T	42033616	2	4	42	1	0	0	0	0	0	0	0	1	17454	903	32	4		4	XRCC6	22	42033616	Silent	SNP	C	TCGA-BR-6801-01A-11D-1882-08	3902893	42033616	9270950	57	35752											
HCFC1	3054	broad.mit.edu	37	chrX	153225353	153225353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcgggggcagcctggggCaggagcgtgatgcctacttg	20	9	0	1			TCGA-BR-6801-01A-11D-1882-08	TCGA-BR-6801-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cee38c82-b415-4da9-adfe-664814ddbfd3	35f087a6-294f-42a2-a031-dc3109fe692d	g.chrX:153225353C>T	uc004fjp.2	-	8	1872	c.1344G>A	c.(1342-1344)CTG>CTA	p.L448L		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	448					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCTGGGGCAGGAGCGTGA	0.672													T	153225353	C	T	153225353	2	4	42	1	0	0	0	0	0	0	0	1	6991	697	25	2		2	HCFC1	23	153225353	Silent	SNP	C	TCGA-BR-6801-01A-11D-1882-08		153225353	2045207	58	35753											
AGRN	375790	broad.mit.edu	37	chr1	979010	979010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtggctttggcccagcccGtgtgtggctccgacgggcac	16	14	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:979010G>A	uc001ack.1	+	9	1746	c.1696G>A	c.(1696-1698)GTG>ATG	p.V566M		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	566	Kazal-like 6.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGCCCAGCCCGTGTGTGGCTC	0.692													A	979010	G	A	979010	3	1	43	1	0	0	0	0	1	0	0	0	397	1145	40	1	1730	1	AGRN	1	979010	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08		979010	248271611	1	35754											
PER3	8863	broad.mit.edu	37	chr1	7887631	7887631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatgtccattcctgggggCgacagcctcttctgcgatat	11	13	2	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:7887631C>T	uc001aoo.2	+	17	2793	c.2618C>T	c.(2617-2619)GCG>GTG	p.A873V	PER3_uc009vmg.1_Missense_Mutation_p.A881V|PER3_uc009vmh.1_Missense_Mutation_p.A874V|PER3_uc001aop.2_Missense_Mutation_p.A881V|PER3_uc010nzw.1_Missense_Mutation_p.A562V	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	873	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCTGGGGGCGACAGCCTCT	0.527													T	7887631	C	T	7887631	3	4	43	1	0	0	0	0	1	0	0	0	11731	768	27	1	2684	1	PER3	1	7887631	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	6908621	7887631	241362990	2	35755											
TNFRSF9	3604	broad.mit.edu	37	chr1	7995117	7995117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcacagaggatgctcccGgagagaggtcggctggagat	18	8	1	3	rs145966863	byFrequency	TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:7995117G>A	uc001aot.2	-	6	628	c.500C>T	c.(499-501)CCG>CTG	p.P167L		NM_001561	NP_001552	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily,	167	Extracellular (Potential).				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGCTCCCGGAGAGAGGTC	0.542													A	7995117	G	A	7995117	3	1	43	1	0	0	0	0	1	0	0	0	16297	1116	39	1	279	1	TNFRSF9	1	7995117	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	107486	7995117	241255504	3	35756											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17952451	17952451	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaaccttgtctccaccagCgacggcaggtgtgcagccca	12	15	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:17952451C>T	uc001ban.2	+	14	1477	c.1318C>T	c.(1318-1320)CGA>TGA	p.R440*	ARHGEF10L_uc009vpe.1_Nonsense_Mutation_p.R401*|ARHGEF10L_uc001bao.2_Nonsense_Mutation_p.R401*|ARHGEF10L_uc001bap.2_Nonsense_Mutation_p.R401*|ARHGEF10L_uc010ocr.1_Nonsense_Mutation_p.R198*|ARHGEF10L_uc001baq.2_Nonsense_Mutation_p.R206*|ARHGEF10L_uc010ocs.1_Nonsense_Mutation_p.R218*|ARHGEF10L_uc001bar.2_Intron|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	440	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TCTCCACCAGCGACGGCAGGT	0.617													T	17952451	C	T	17952451	4	4	43	1	0	0	0	0	0	1	0	0	895	782	27	1	1368	1	ARHGEF10L	1	17952451	Nonsense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	9957334	17952451	231298170	4	35757											
MRTO4	51154	broad.mit.edu	37	chr1	19583994	19583994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtctcctgttcaccaaccGcacaaaggaggaggtgaatg	13	10	2	1	rs114437725	byFrequency	TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:19583994G>A	uc001bbs.2	+	5	575	c.320G>A	c.(319-321)CGC>CAC	p.R107H		NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog	107					ribosome biogenesis	nuclear membrane|nucleolus					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TTCACCAACCGCACAAAGGAG	0.488													A	19583994	G	A	19583994	3	1	43	1	0	0	0	0	1	0	0	0	9852	1087	38	1	338	1	MRTO4	1	19583994	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1631543	19583994	229666627	5	35758											
HSPG2	3339	broad.mit.edu	37	chr1	22160079	22160079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcatgttgttctccaggCggctgtcaggtggcaggctg	15	10	3	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:22160079C>T	uc001bfj.2	-	79	10899	c.10859G>A	c.(10858-10860)CGC>CAC	p.R3620H	HSPG2_uc001bfi.2_5'Flank|HSPG2_uc009vqd.2_Missense_Mutation_p.R3621H	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3620	Ig-like C2-type 22.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GTTCTCCAGGCGGCTGTCAGG	0.637													T	22160079	C	T	22160079	3	4	43	1	0	0	0	0	1	0	0	0	7430	768	27	1	2392	1	HSPG2	1	22160079	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	2576085	22160079	227090542	6	35759											
ZBTB40	9923	broad.mit.edu	37	chr1	22848916	22848916	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaaggagctcttccccacGccagccttgctgcaggttca	10	14	2	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:22848916G>A	uc001bft.2	+	17	3769	c.3258G>A	c.(3256-3258)ACG>ACA	p.T1086T	ZBTB40_uc001bfu.2_Silent_p.T1086T|ZBTB40_uc009vqi.1_Silent_p.T974T	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1086	C2H2-type 10.				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TCTTCCCCACGCCAGCCTTGC	0.403													A	22848916	G	A	22848916	2	1	43	1	0	0	0	0	0	0	0	1	17539	1074	38	1		1	ZBTB40	1	22848916	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	688837	22848916	226401705	7	35760											
EXTL1	2134	broad.mit.edu	37	chr1	26360246	26360246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggatggtgggcttcctgacGtcgagccatttctgggacga	15	10	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:26360246G>A	uc001blf.2	+	9	2445	c.1578G>A	c.(1576-1578)ACG>ACA	p.T526T		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	exostoses-like 1	526	Lumenal (Potential).				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTCCTGACGTCGAGCCATT	0.582													A	26360246	G	A	26360246	2	1	43	1	0	0	0	0	0	0	0	1	5325	1132	40	1		1	EXTL1	1	26360246	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	3511330	26360246	222890375	8	35761											
CATSPER4	378807	broad.mit.edu	37	chr1	26524487	26524487	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcatggcggtggagccCctcgcccggatcatccgcgt	15	14	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:26524487C>A	uc010oez.1	+	5	597	c.597C>A	c.(595-597)CCC>CCA	p.P199P	CATSPER4_uc010oey.1_Silent_p.P21P|CATSPER4_uc009vsf.2_RNA	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	199	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CGGTGGAGCCCCTCGCCCGGA	0.637													A	26524487	C	A	26524487	2	1	43	1	0	0	0	0	0	0	0	1	2690	610	22	5		5	CATSPER4	1	26524487	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	164241	26524487	222726134	9	35762											
ARID1A	8289	broad.mit.edu	37	chr1	27099008	27099008	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgggatcaggatctatgCaggggccccagactccccag	13	14	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:27099008C>T	uc001bmv.1	+	13	3797	c.3424C>T	c.(3424-3426)CAG>TAG	p.Q1142*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1142*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1142*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q759*|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1142					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGGATCTATGCAGGGGCCCCA	0.527			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								T	27099008	C	T	27099008	4	4	43	1	0	0	0	0	0	1	0	0	913	711	25	2	3474	2	ARID1A	1	27099008	Nonsense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	574521	27099008	222151613	10	35763											
ARID1A	8289	broad.mit.edu	37	chr1	27106861	27106861	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgcgcttcctcagtgacCgaaagaacccggtgtgccgg	14	12	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:27106861C>T	uc001bmv.1	+	20	6845	c.6472C>T	c.(6472-6474)CGA>TGA	p.R2158*	ARID1A_uc001bmu.1_Nonsense_Mutation_p.R1941*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.R1004*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.R486*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.R400*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2158					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.R2158*(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTCAGTGACCGAAAGAACCC	0.597			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								T	27106861	C	T	27106861	4	4	43	1	0	0	0	0	0	1	0	0	913	644	23	1	6550	1	ARID1A	1	27106861	Nonsense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	7853	27106861	222143760	11	35764											
FAM46B	115572	broad.mit.edu	37	chr1	27332693	27332693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtgtcaccaggcaggcGtaacggcgggctgcatctgc	15	12	2	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:27332693G>A	uc010ofj.1	-	2	1192	c.1020C>T	c.(1018-1020)TAC>TAT	p.Y340Y		NM_052943	NP_443175	Q96A09	FA46B_HUMAN	hypothetical protein LOC115572	340										central_nervous_system(1)	1		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		CCAGGCAGGCGTAACGGCGGG	0.662													A	27332693	G	A	27332693	2	1	43	1	0	0	0	0	0	0	0	1	5566	1140	40	1		1	FAM46B	1	27332693	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	225832	27332693	221917928	12	35765											
TAF12	6883	broad.mit.edu	37	chr1	28948573	28948573	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggagaggttgattagggcTgaggggccaaactggttcat	16	5	1	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:28948573T>C	uc001bqw.2	-	1	114	c.21A>G	c.(19-21)TCA>TCG	p.S7S	TAF12_uc001bqx.2_Silent_p.S7S|TAF12_uc001bqy.2_Silent_p.S7S|TAF12_uc009vti.2_Silent_p.S7S	NM_005644	NP_005635	Q16514	TAF12_HUMAN	TAF12 RNA polymerase II, TATA box binding	7					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Renal(390;0.00121)|Breast(348;0.00502)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)		Colorectal(126;3.21e-08)|COAD - Colon adenocarcinoma(152;1.74e-06)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(1967;0.0109)|BRCA - Breast invasive adenocarcinoma(304;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		TGATTAGGGCTGAGGGGCCAA	0.493													C	28948573	T	C	28948573	2	2	43	1	0	0	0	0	0	0	0	1	15513	1567	55	3		3	TAF12	1	28948573	Silent	SNP	T	TCGA-BR-6802-01A-11D-1882-08	1615880	28948573	220302048	13	35766											
NKAIN1	79570	broad.mit.edu	37	chr1	31655387	31655387	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttactcacagctgtcctcCtcctccaggaacactttgct	5	17	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:31655387C>A	uc010ogd.1	-	5	528	c.522G>T	c.(520-522)GAG>GAT	p.E174D	NKAIN1_uc001bsn.2_Missense_Mutation_p.E130D|NKAIN1_uc010ogc.1_Missense_Mutation_p.E103D	NM_024522	NP_078798	Q4KMZ8	NKAI1_HUMAN	Na+/K+ transporting ATPase interacting 1	174	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)		AGCTGTCCTCCTCCTCCAGGA	0.632													A	31655387	C	A	31655387	3	1	43	1	0	0	0	0	1	0	0	0	10435	680	24	5	113	5	NKAIN1	1	31655387	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	2706814	31655387	217595234	14	35767											
RNF19B	127544	broad.mit.edu	37	chr1	33411121	33411121	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgactagcttaccaacacTaactgcagcaataactgggg	8	12	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:33411121T>C	uc010oho.1	-	5	1258	c.1258A>G	c.(1258-1260)AGT>GGT	p.S420G	RNF19B_uc001bwm.3_Missense_Mutation_p.S419G|RNF19B_uc010ohp.1_Missense_Mutation_p.S419G	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B isoform a	420	Helical; (Potential).					integral to membrane	ligase activity|protein binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TTACCAACACTAACTGCAGCA	0.463													C	33411121	T	C	33411121	3	2	43	1	0	0	0	0	1	0	0	0	13471	1522	53	3	986	3	RNF19B	1	33411121	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	1755734	33411121	215839500	15	35768											
CSMD2	114784	broad.mit.edu	37	chr1	34554619	34554619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggtggaccatcaaacacCgacaggacatcaaagtcctc	10	12	2	0	rs141030168		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:34554619C>T	uc001bxn.1	-	2	272	c.243G>A	c.(241-243)TCG>TCA	p.S81S	CSMD2_uc001bxm.1_Silent_p.S121S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	81	CUB 1.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CATCAAACACCGACAGGACAT	0.552													T	34554619	C	T	34554619	2	4	43	1	0	0	0	0	0	0	0	1	3945	639	23	1		1	CSMD2	1	34554619	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1143498	34554619	214696002	16	35769											
CCDC30	728621	broad.mit.edu	37	chr1	43119565	43119565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagtcaaaagaagcaatgGcaagttcaaagtcccctgaa	8	9	3	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:43119565G>A	uc009vwk.1	+	16	2328	c.2218G>A	c.(2218-2220)GCA>ACA	p.A740T	CCDC30_uc001chm.2_Missense_Mutation_p.A438T|CCDC30_uc001chn.2_Missense_Mutation_p.A529T	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	740											0						AGAAGCAATGGCAAGTTCAAA	0.413													A	43119565	G	A	43119565	3	1	43	1	0	0	0	0	1	0	0	0	2805	1203	42	2	2276	2	CCDC30	1	43119565	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	8564946	43119565	206131056	17	35770											
IPO13	9670	broad.mit.edu	37	chr1	44426892	44426892	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcccccaattgaggccctcTtcctgctcgtcacctccgtc	6	19	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:44426892T>A	uc001ckx.2	+	14	3097	c.2302T>A	c.(2302-2304)TTC>ATC	p.F768I		NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	768					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGAGGCCCTCTTCCTGCTCGT	0.592													A	44426892	T	A	44426892	3	1	43	1	0	0	0	0	1	0	0	0	7794	1609	56	5	2356	5	IPO13	1	44426892	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	1307327	44426892	204823729	18	35771											
CYP4Z1	199974	broad.mit.edu	37	chr1	47560306	47560306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatactactcagaaaaggCgctgggattttctggacata	10	7	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:47560306C>T	uc001cqu.1	+	7	844	c.841C>T	c.(841-843)CGC>TGC	p.R281C		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	cytochrome P450 4Z1	281	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			skin(1)	1						TCAGAAAAGGCGCTGGGATTT	0.318													T	47560306	C	T	47560306	3	4	43	1	0	0	0	0	1	0	0	0	4194	768	27	1	867	1	CYP4Z1	1	47560306	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	3133414	47560306	201690315	19	35772											
MYSM1	114803	broad.mit.edu	37	chr1	59132821	59132821	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaacagccaaggtttctgaGgcctgtgtttgtgatacagg	12	8	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:59132821G>T	uc009wab.1	-	16	1943	c.1920C>A	c.(1918-1920)GCC>GCA	p.A640A	MYSM1_uc009waa.1_Silent_p.A46A|MYSM1_uc001czc.2_RNA	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	640	MPN.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(1)	1	all_cancers(7;9.36e-06)					AGGTTTCTGAGGCCTGTGTTT	0.428													T	59132821	G	T	59132821	2	4	43	1	0	0	0	0	0	0	0	1	10101	987	35	5		5	MYSM1	1	59132821	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	11572515	59132821	190117800	20	35773											
DNAJC6	9829	broad.mit.edu	37	chr1	65851439	65851439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggcagacaagccctaccGccctcacttcaagcctctca	6	18	3	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:65851439G>A	uc001dcd.1	+	7	838	c.674G>A	c.(673-675)CGC>CAC	p.R225H	DNAJC6_uc001dcc.1_Missense_Mutation_p.R256H|DNAJC6_uc010opc.1_Missense_Mutation_p.R212H|DNAJC6_uc001dce.1_Missense_Mutation_p.R282H	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	225					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						AAGCCCTACCGCCCTCACTTC	0.488													A	65851439	G	A	65851439	3	1	43	1	0	0	0	0	1	0	0	0	4653	1087	38	1	700	1	DNAJC6	1	65851439	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	6718618	65851439	183399182	21	35774											
WDR78	79819	broad.mit.edu	37	chr1	67313177	67313177	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaataccttttaaaacAggaagctgacgataagctgc	7	7	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:67313177A>G	uc001dcx.2	-	8	1337	c.1281T>C	c.(1279-1281)CCT>CCC	p.P427P	WDR78_uc001dcy.2_Silent_p.P427P|WDR78_uc009waw.2_Silent_p.P173P|WDR78_uc009wax.2_RNA	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	427										ovary(2)	2						CTTTTAAAACAGGAAGCTGAC	0.204													G	67313177	A	G	67313177	2	3	43	1	0	0	0	0	0	0	0	1	17325	175	7	3		3	WDR78	1	67313177	Silent	SNP	A	TCGA-BR-6802-01A-11D-1882-08	1461738	67313177	181937444	22	35775											
ABCA4	24	broad.mit.edu	37	chr1	94480241	94480241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtacatcatgggaatgaccGcccatctgtgtgaaatgaga	12	8	2	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:94480241G>A	uc001dqh.2	-	38	5422	c.5318C>T	c.(5317-5319)GCG>GTG	p.A1773V	ABCA4_uc009wdp.1_Missense_Mutation_p.A41V	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	1773	Helical; (Potential).				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGAATGACCGCCCATCTGTG	0.478													A	94480241	G	A	94480241	3	1	43	1	0	0	0	0	1	0	0	0	34	1087	38	1	1555	1	ABCA4	1	94480241	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	27167064	94480241	154770380	23	35776											
NTNG1	22854	broad.mit.edu	37	chr1	107867388	107867388	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgcaatatggcttccctctAcggacagctggatacaacca	8	13	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:107867388A>G	uc001dvh.3	+	3	1449	c.731A>G	c.(730-732)TAC>TGC	p.Y244C	NTNG1_uc001dvf.3_Missense_Mutation_p.Y244C|NTNG1_uc010out.1_Missense_Mutation_p.Y244C|NTNG1_uc001dvc.3_Missense_Mutation_p.Y244C|NTNG1_uc001dvd.1_Missense_Mutation_p.Y244C	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	244	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GCTTCCCTCTACGGACAGCTG	0.428													G	107867388	A	G	107867388	3	3	43	1	0	0	0	0	1	0	0	0	10704	391	14	3	737	3	NTNG1	1	107867388	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	13387147	107867388	141383233	24	35777											
VAV3	10451	broad.mit.edu	37	chr1	108417623	108417623	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgagaaatgtccttatgTtcttcaaacagagaaactga	8	8	2	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:108417623T>C	uc001dvk.1	-	2	275	c.221A>G	c.(220-222)AAC>AGC	p.N74S	VAV3_uc010ouw.1_Missense_Mutation_p.N74S|VAV3_uc001dvl.1_5'UTR|VAV3_uc010oux.1_Missense_Mutation_p.N74S	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	74	CH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TGTCCTTATGTTCTTCAAACA	0.393													C	108417623	T	C	108417623	3	2	43	1	0	0	0	0	1	0	0	0	17130	1725	60	3	2451	3	VAV3	1	108417623	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	550235	108417623	140832998	25	35778											
AMPD2	271	broad.mit.edu	37	chr1	110168017	110168017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacttcccgctcgacctgCgcacgtctatggatggcaaa	10	14	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:110168017C>T	uc009wfh.1	+	3	888	c.346C>T	c.(346-348)CGC>TGC	p.R116C	AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Missense_Mutation_p.R35C|AMPD2_uc001dyc.1_Missense_Mutation_p.R116C|AMPD2_uc010ovr.1_Intron|AMPD2_uc010ovs.1_5'UTR|AMPD2_uc001dyd.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2 (isoform L)	116					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|breast(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCTCGACCTGCGCACGTCTAT	0.687													T	110168017	C	T	110168017	3	4	43	1	0	0	0	0	1	0	0	0	586	768	27	1	366	1	AMPD2	1	110168017	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1750394	110168017	139082604	26	35779											
KCND3	3752	broad.mit.edu	37	chr1	112318756	112318756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggaatgttcgtgttgggGcctgggctggcagggggtgg	22	5	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:112318756G>A	uc001ebu.1	-	8	2391	c.1911C>T	c.(1909-1911)GGC>GGT	p.G637G	KCND3_uc001ebv.1_Silent_p.G618G	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	637	Cytoplasmic (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TCGTGTTGGGGCCTGGGCTGG	0.582													A	112318756	G	A	112318756	2	1	43	1	0	0	0	0	0	0	0	1	8020	1190	42	2		2	KCND3	1	112318756	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	2150739	112318756	136931865	27	35780											
PTGFRN	5738	broad.mit.edu	37	chr1	117509774	117509774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcatcacgggtggatggCgttgttttagaaaaagtgca	14	5	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:117509774C>T	uc001egv.1	+	6	2018	c.1881C>T	c.(1879-1881)GGC>GGT	p.G627G		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	627	Ig-like C2-type 5.|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			liver(1)	1	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GGGTGGATGGCGTTGTTTTAG	0.522													T	117509774	C	T	117509774	2	4	43	1	0	0	0	0	0	0	0	1	12750	755	27	1		1	PTGFRN	1	117509774	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	5191018	117509774	131740847	28	35781											
MAN1A2	10905	broad.mit.edu	37	chr1	117944904	117944904	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaagtcaagagaggaaatTcgagcagaaattcagacaga	11	5	2	5			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:117944904T>C	uc001ehd.1	+	2	1120	c.399T>C	c.(397-399)ATT>ATC	p.I133I	MAN1A2_uc009whg.1_Intron	NM_006699	NP_006690	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	133	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity				0	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		GAGAGGAAATTCGAGCAGAAA	0.398													C	117944904	T	C	117944904	2	2	43	1	0	0	0	0	0	0	0	1	9211	1771	62	3		3	MAN1A2	1	117944904	Silent	SNP	T	TCGA-BR-6802-01A-11D-1882-08	435130	117944904	131305717	29	35782											
BCL9	607	broad.mit.edu	37	chr1	147091501	147091502	+	Frame_Shift_Ins	INS	-	-	C													tcggggagtggtccgaggacINSccccccctccataccagatg							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:147091500_147091501A>AC	uc001epq.3	+	7	2279_2280	c.1539_1540A>AC	c.(1537-1542)ggacccfs	p.G513fs	BCL9_uc010ozr.1_Frame_Shift_Ins_p.G439fs	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	513	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TGGTCCGAGGACCCCCCCCTCC	0.579			T	"IGH@, IGL@"	B-ALL								C	147091502	-	C	147091501	7	5	43	1	0	1	1	0	0	0	0	0	1381	507	18	0	1558	0	BCL9	1	147091501	Frame_Shift_Ins	INS	-	TCGA-BR-6802-01A-11D-1882-08	29146597	147091501	102159120	30	35783											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150530506	150530507	+	Frame_Shift_Ins	INS	-	-	G													gcagtgccggcaggaatttgINSgggggggtggctcctcggtg					rs149280379		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:150530505_150530506T>TG	uc009wlw.3	+	13	2489_2490	c.2331_2332T>TG	c.(2329-2334)tttgggfs	p.F777fs	ADAMTSL4_uc001euw.3_Frame_Shift_Ins_p.F754fs|ADAMTSL4_uc001eux.3_Frame_Shift_Ins_p.F754fs|ADAMTSL4_uc010pcg.2_Frame_Shift_Ins_p.F715fs|ADAMTSL4_uc009wlx.3_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	754	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	p.F754L(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGCAGGAATTTGGGGGGGGTGG	0.693													G	150530507	-	G	150530506	7	5	43	1	0	1	1	0	0	0	0	0	277	1348	47	0	2309	0	ADAMTSL4	1	150530506	Frame_Shift_Ins	INS	-	TCGA-BR-6802-01A-11D-1882-08	3439005	150530506	98720115	31	35784											
THEM4	117145	broad.mit.edu	37	chr1	151849482	151849482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccagcttcttacttgtcGcctctgagtatagggtcttc	9	11	3	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:151849482G>A	uc001ezj.1	-	5	856	c.677C>T	c.(676-678)GCG>GTG	p.A226V	THEM4_uc001ezk.1_RNA	NM_053055	NP_444283	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	226					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane					0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTTACTTGTCGCCTCTGAGTA	0.353													A	151849482	G	A	151849482	3	1	43	1	0	0	0	0	1	0	0	0	15855	1087	38	1	53	1	THEM4	1	151849482	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1318976	151849482	97401139	32	35785											
FLG	2312	broad.mit.edu	37	chr1	152283959	152283959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcgtccagtgctggtccTggtccgcccatgggcagact	12	14	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:152283959T>C	uc001ezu.1	-	3	3439	c.3403A>G	c.(3403-3405)AGG>GGG	p.R1135G	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1135	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCTGGTCCTGGTCCGCCCA	0.597									Ichthyosis				C	152283959	T	C	152283959	3	2	43	1	0	0	0	0	1	0	0	0	5922	1579	55	3	8786	3	FLG	1	152283959	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	434477	152283959	96966662	33	35786											
FLG	2312	broad.mit.edu	37	chr1	152284170	152284170	+	Nonsense_Mutation	SNP	C	C	T													gcctgactaccactggacccCcagtgtccactgtctctgac							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:152284170C>T	uc001ezu.1	-	3	3228	c.3192G>A	c.(3190-3192)TGG>TGA	p.W1064*	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1064	Filaggrin 6.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACTGGACCCCCAGTGTCCAC	0.572									Ichthyosis				T	152284170	C	T	152284170	4	4	43	1	0	0	0	0	0	1	0	0	5922	624	22	4	8997	4	FLG	1	152284170	Nonsense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	211	152284170	96966451	34	35787	117	2									
FLG	2312	broad.mit.edu	37	chr1	152284172	152284172	+	Missense_Mutation	SNP	A	A	G													ctgactaccactggacccccAgtgtccactgtctctgactg							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:152284172A>G	uc001ezu.1	-	3	3226	c.3190T>C	c.(3190-3192)TGG>CGG	p.W1064R	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1064	Filaggrin 6.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGACCCCCAGTGTCCACTG	0.572									Ichthyosis				G	152284172	A	G	152284172	3	3	43	1	0	0	0	0	1	0	0	0	5922	188	7	3	8999	3	FLG	1	152284172	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	2	152284172	96966449	35	35788	117	2									
FCRL5	83416	broad.mit.edu	37	chr1	157497672	157497672	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctgagggtgaggatgggGcgagacactggaactgagag	18	7	0	4			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:157497672G>A	uc001fqu.2	-	9	1853	c.1695C>T	c.(1693-1695)CGC>CGT	p.R565R	FCRL5_uc009wsm.2_Silent_p.R565R|FCRL5_uc010phv.1_Silent_p.R565R|FCRL5_uc010phw.1_Silent_p.R480R	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	565	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity	p.R565H(1)		ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGAGGATGGGGCGAGACACTG	0.458													A	157497672	G	A	157497672	2	1	43	1	0	0	0	0	0	0	0	1	5798	1190	42	2		2	FCRL5	1	157497672	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	5213500	157497672	91752949	36	35789											
OR10Z1	128368	broad.mit.edu	37	chr1	158576516	158576516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctatctcctatgtgggCtgtgctgcccagatgttctt	11	11	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:158576516C>T	uc010pio.1	+	1	288	c.288C>T	c.(286-288)GGC>GGT	p.G96G		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					CCTATGTGGGCTGTGCTGCCC	0.542													T	158576516	C	T	158576516	2	4	43	1	0	0	0	0	0	0	0	1	10923	784	28	2		2	OR10Z1	1	158576516	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1078844	158576516	90674105	37	35790											
ADAMTS4	9507	broad.mit.edu	37	chr1	161163166	161163166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcagcacactgctcctcgCggaaggtcagggctggaggg	17	11	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:161163166C>T	uc001fyt.3	-	7	2176	c.1748G>A	c.(1747-1749)CGC>CAC	p.R583H		NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	583	Cys-rich.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTGCTCCTCGCGGAAGGTCAG	0.617													T	161163166	C	T	161163166	3	4	43	1	0	0	0	0	1	0	0	0	268	768	27	1	777	1	ADAMTS4	1	161163166	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	2586650	161163166	88087455	38	35791											
RASAL2	9462	broad.mit.edu	37	chr1	178411966	178411966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagacaatattttctggggcGaacattttgaattcttcagc	8	8	3	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:178411966G>A	uc001glr.2	+	6	765	c.640G>A	c.(640-642)GAA>AAA	p.E214K	RASAL2_uc001glq.2_Missense_Mutation_p.E362K	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	214	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						TTTCTGGGGCGAACATTTTGA	0.383													A	178411966	G	A	178411966	3	1	43	1	0	0	0	0	1	0	0	0	13064	1059	37	1	1131	1	RASAL2	1	178411966	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	17248800	178411966	70838655	39	35792											
ABL2	27	broad.mit.edu	37	chr1	179077894	179077895	+	Frame_Shift_Ins	INS	-	-	T													gagcagcactttcctctgatINSttttttggaagcatgtcatt							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:179077893_179077894A>AT	uc001gmj.4	-	11	2795_2796	c.2508_2509T>AT	c.(2506-2511)aaatcafs	p.K836fs	ABL2_uc010pnf.2_Frame_Shift_Ins_p.K733fs|ABL2_uc010png.2_Frame_Shift_Ins_p.K712fs|ABL2_uc010pnh.2_Frame_Shift_Ins_p.K815fs|ABL2_uc001gmg.4_Frame_Shift_Ins_p.K718fs|ABL2_uc001gmi.4_Frame_Shift_Ins_p.K821fs|ABL2_uc010pne.2_Frame_Shift_Ins_p.K697fs	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	836	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.K800fs*34(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CTTTCCTCTGATTTTTTTGGAA	0.525			T	ETV6	AML								T	179077895	-	T	179077894	7	5	43	1	0	1	1	0	0	0	0	0	93	1490	52	0	1044	0	ABL2	1	179077894	Frame_Shift_Ins	INS	-	TCGA-BR-6802-01A-11D-1882-08	665928	179077894	70172727	40	35793											
QSOX1	5768	broad.mit.edu	37	chr1	180135652	180135652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccggccctgtatctcgccGccctggactgtgctgaggag	15	14	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:180135652G>A	uc001gnz.2	+	2	367	c.292G>A	c.(292-294)GCC>ACC	p.A98T	QSOX1_uc001gny.2_Missense_Mutation_p.A98T|QSOX1_uc001goa.2_Missense_Mutation_p.A98T	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	98	Thioredoxin.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						GTATCTCGCCGCCCTGGACTG	0.597													A	180135652	G	A	180135652	3	1	43	1	0	0	0	0	1	0	0	0	12883	1087	38	1	298	1	QSOX1	1	180135652	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1057758	180135652	69114969	41	35794											
PRG4	10216	broad.mit.edu	37	chr1	186280649	186280649	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attttcaaaggatttggaggActaactggacaaatagtggc	11	5	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:186280649A>T	uc001gru.3	+	10	3765	c.3714A>T	c.(3712-3714)GGA>GGT	p.G1238G	PRG4_uc001grt.3_Silent_p.G1197G|PRG4_uc009wyl.2_Silent_p.G1145G|PRG4_uc009wym.2_Silent_p.G1104G|PRG4_uc010poo.1_RNA	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	1238	Hemopexin-like 2.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						GATTTGGAGGACTAACTGGAC	0.358													T	186280649	A	T	186280649	2	4	43	1	0	0	0	0	0	0	0	1	12481	262	10	5		5	PRG4	1	186280649	Silent	SNP	A	TCGA-BR-6802-01A-11D-1882-08	6144997	186280649	62969972	42	35795											
F13B	2165	broad.mit.edu	37	chr1	197009701	197009701	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taactgccctctgtcacattGcattctaagtatagatccag	6	11	3	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:197009701G>A	uc001gtt.1	-	11	1947	c.1903C>T	c.(1903-1905)CAA>TAA	p.Q635*		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	635	Sushi 10.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						CTGTCACATTGCATTCTAAGT	0.308													A	197009701	G	A	197009701	4	1	43	1	0	0	0	0	0	1	0	0	5341	1328	46	2	90	2	F13B	1	197009701	Nonsense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	10729052	197009701	52240920	43	35796											
PPFIA4	8497	broad.mit.edu	37	chr1	203026010	203026010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcatcaagtcgtccattgGccgcctgtttgggaagaagg	15	9	1	1	rs142427146	by1000genomes	TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:203026010G>A	uc001gyz.2	+	6	1414	c.821G>A	c.(820-822)GGC>GAC	p.G274D	PPFIA4_uc009xaj.2_Missense_Mutation_p.G905D|PPFIA4_uc010pqf.1_Missense_Mutation_p.G487D|PPFIA4_uc001gza.2_Missense_Mutation_p.G274D|PPFIA4_uc001gzb.1_5'UTR	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	274					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						TCGTCCATTGGCCGCCTGTTT	0.622													A	203026010	G	A	203026010	3	1	43	1	0	0	0	0	1	0	0	0	12312	1203	42	2	843	2	PPFIA4	1	203026010	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	6016309	203026010	46224611	44	35797											
ZC3H11A	9877	broad.mit.edu	37	chr1	203798733	203798733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaatgttcctagccccacGcatccaccagttgtaattaa	6	12	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:203798733G>A	uc001hac.2	+	8	1069	c.453G>A	c.(451-453)ACG>ACA	p.T151T	ZC3H11A_uc001had.2_Silent_p.T151T|ZC3H11A_uc001hae.2_Silent_p.T151T|ZC3H11A_uc001haf.2_Silent_p.T151T|ZC3H11A_uc010pqm.1_Silent_p.T97T|ZC3H11A_uc001hag.1_Silent_p.T151T	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	151							nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTAGCCCCACGCATCCACCAG	0.433													A	203798733	G	A	203798733	2	1	43	1	0	0	0	0	0	0	0	1	17557	1074	38	1		1	ZC3H11A	1	203798733	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	772723	203798733	45451888	45	35798											
CR1	1378	broad.mit.edu	37	chr1	207737304	207737304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgttctacagctgtgagCccggctatgacctcagaggg	13	10	2	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:207737304C>T	uc001hfy.2	+	14	2472	c.2332C>T	c.(2332-2334)CCC>TCC	p.P778S	CR1_uc009xcl.1_Intron|CR1_uc001hfx.2_Missense_Mutation_p.P1228S|CR1_uc009xck.1_Intron	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	778	Sushi 12.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						CAGCTGTGAGCCCGGCTATGA	0.582													T	207737304	C	T	207737304	3	4	43	1	0	0	0	0	1	0	0	0	3840	739	26	2	3768	2	CR1	1	207737304	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	3938571	207737304	41513317	46	35799											
SERTAD4	56256	broad.mit.edu	37	chr1	210415495	210415495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaccaacagagatggtgGccccctcagccacgaacctg	10	15	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:210415495G>A	uc001hhy.2	+	4	1063	c.884G>A	c.(883-885)GGC>GAC	p.G295D	SERTAD4_uc009xcw.2_Missense_Mutation_p.G295D	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	295							protein binding			ovary(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		AGAGATGGTGGCCCCCTCAGC	0.403													A	210415495	G	A	210415495	3	1	43	1	0	0	0	0	1	0	0	0	14123	1203	42	2	894	2	SERTAD4	1	210415495	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	2678191	210415495	38835126	47	35800											
DTL	51514	broad.mit.edu	37	chr1	212220516	212220516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatggctcactggaatgccGtctttgacctggcctgggtt	14	10	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:212220516G>A	uc009xdc.2	+	4	615	c.301G>A	c.(301-303)GTC>ATC	p.V101I	DTL_uc010ptb.1_Missense_Mutation_p.V59I|DTL_uc001hiz.3_5'UTR	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	denticleless homolog	101	WD 2.				DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CTGGAATGCCGTCTTTGACCT	0.353													A	212220516	G	A	212220516	3	1	43	1	0	0	0	0	1	0	0	0	4787	1145	40	1	315	1	DTL	1	212220516	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1805021	212220516	37030105	48	35801											
RYR2	6262	broad.mit.edu	37	chr1	237608710	237608710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcttacaggctattatgCatcatgaaggccacatggat	8	9	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:237608710C>T	uc001hyl.1	+	14	1300	c.1180C>T	c.(1180-1182)CAT>TAT	p.H394Y		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	394	Cytoplasmic (By similarity).|MIR 5.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCTATTATGCATCATGAAGG	0.443													T	237608710	C	T	237608710	3	4	43	1	0	0	0	0	1	0	0	0	13769	710	25	2	1234	2	RYR2	1	237608710	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	25388194	237608710	11641911	49	35802											
RYR2	6262	broad.mit.edu	37	chr1	237804199	237804199	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaacattcatgaaagtgAcacagaggaggaggaagatg	13	4	1	5			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:237804199A>G	uc001hyl.1	+	47	7238	c.7118A>G	c.(7117-7119)GAC>GGC	p.D2373G		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2373	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATGAAAGTGACACAGAGGAG	0.428													G	237804199	A	G	237804199	3	3	43	1	0	0	0	0	1	0	0	0	13769	275	10	3	7304	3	RYR2	1	237804199	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	195489	237804199	11446422	50	35803											
OR2T12	127064	broad.mit.edu	37	chr1	248458331	248458331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtcagcacaagccaaacGcaccaacacgggggcctcgc	11	15	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:248458331G>A	uc010pzj.1	-	1	550	c.550C>T	c.(550-552)CGT>TGT	p.R184C		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	184	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CAAGCCAAACGCACCAACACG	0.552													A	248458331	G	A	248458331	3	1	43	1	0	0	0	0	1	0	0	0	11019	1087	38	1	415	1	OR2T12	1	248458331	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	10654132	248458331	792290	51	35804											
OR2T34	127068	broad.mit.edu	37	chr1	248737709	248737709	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatggcagccaggaggaaaAcctcagctccagccagggtc	12	14	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr1:248737709A>C	uc001iep.1	-	1	350	c.350T>G	c.(349-351)GTT>GGT	p.V117G		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGGAGGAAAACCTCAGCTCC	0.567													C	248737709	A	C	248737709	3	2	43	1	0	0	0	0	1	0	0	0	11025	43	2	5	610	5	OR2T34	1	248737709	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	279378	248737709	512912	52	35805											
PQLC3	130814	broad.mit.edu	37	chr2	11315100	11315100	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttttcttttacagcaagaaTaatcacaaccttaatgacca	4	9	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:11315100T>C	uc002rbc.2	+	6	615	c.482T>C	c.(481-483)ATA>ACA	p.I161T	PQLC3_uc010yjk.1_Intron	NM_152391	NP_689604	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3 precursor	161						integral to membrane					0	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		ACAGCAAGAATAATCACAACC	0.333													C	11315100	T	C	11315100	3	2	43	1	0	0	0	0	1	0	0	0	12420	1406	49	3	504	3	PQLC3	2	11315100	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08		11315100	231884273	53	35806											
GREB1	9687	broad.mit.edu	37	chr2	11742628	11742628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctccccttgctcagatacGatagctcctttgaggccatg	9	14	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:11742628G>A	uc002rbk.1	+	17	2926	c.2626G>A	c.(2626-2628)GAT>AAT	p.D876N	GREB1_uc002rbo.1_Missense_Mutation_p.D510N	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	876						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCTCAGATACGATAGCTCCTT	0.438													A	11742628	G	A	11742628	3	1	43	1	0	0	0	0	1	0	0	0	6760	1058	37	1	2796	1	GREB1	2	11742628	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	427528	11742628	231456745	54	35807											
DNMT3A	1788	broad.mit.edu	37	chr2	25467502	25467502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcgtcgtcgtactggtacGcacactccagaaagcagttc	10	13	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:25467502G>A	uc002rgc.2	-	14	1831	c.1574C>T	c.(1573-1575)GCG>GTG	p.A525V	DNMT3A_uc002rgd.2_Missense_Mutation_p.A525V|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.A336V	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	525	Interaction with the PRC2/EED-EZH2 complex (By similarity).|ADD.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTACTGGTACGCACACTCCAG	0.617			Mis|F|N|S		AML								A	25467502	G	A	25467502	3	1	43	1	0	0	0	0	1	0	0	0	4676	1087	38	1	1204	1	DNMT3A	2	25467502	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	13724874	25467502	217731871	55	35808											
FBXO11	80204	broad.mit.edu	37	chr2	48046138	48046138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttctcagtactggagtgCtgccagttgtcacccagact	9	12	3	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:48046138C>T	uc010fbl.2	-	15	1739	c.1625G>A	c.(1624-1626)AGC>AAC	p.S542N	FBXO11_uc002rwe.2_Missense_Mutation_p.S542N|FBXO11_uc002rwf.2_Missense_Mutation_p.S542N|FBXO11_uc002rwg.1_Missense_Mutation_p.S542N|FBXO11_uc010fbk.2_Missense_Mutation_p.S50N	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	626	PbH1 11.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TACTGGAGTGCTGCCAGTTGT	0.428													T	48046138	C	T	48046138	3	4	43	1	0	0	0	0	1	0	0	0	5727	797	28	2	1032	2	FBXO11	2	48046138	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	22578636	48046138	195153235	56	35809											
BCL11A	53335	broad.mit.edu	37	chr2	60689254	60689255	+	Frame_Shift_Ins	INS	-	-	G													ctcggtggtggactaaacagINSggggggagtgggtggaaagc							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:60689253_60689254A>AG	uc002sae.1	-	3	1021_1022	c.793_794T>CT	c.(793-795)ctgfs	p.L265fs	BCL11A_uc002sab.3_Frame_Shift_Ins_p.L265fs|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Frame_Shift_Ins_p.L231fs|BCL11A_uc002sad.1_Frame_Shift_Ins_p.L113fs|BCL11A_uc002saf.1_Frame_Shift_Ins_p.L231fs	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	265	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGGACTAAACAGGGGGGGAGTG	0.584			T	IGH@	B-CLL								G	60689255	-	G	60689254	7	5	43	1	0	1	1	0	0	0	0	0	1363	991	35	0	1824	0	BCL11A	2	60689254	Frame_Shift_Ins	INS	-	TCGA-BR-6802-01A-11D-1882-08	12643116	60689254	182510119	57	35810											
USP34	9736	broad.mit.edu	37	chr2	61430387	61430387	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcatacgatcataaacGtcatctttgccctgaaggtt	8	10	3	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:61430387G>A	uc002sbe.2	-	75	9418	c.9396C>T	c.(9394-9396)GAC>GAT	p.D3132D	USP34_uc002sbd.2_Intron	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	3132					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			GATCATAAACGTCATCTTTGC	0.313													A	61430387	G	A	61430387	2	1	43	1	0	0	0	0	0	0	0	1	17062	1136	40	1		1	USP34	2	61430387	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	741133	61430387	181768986	58	35811											
HSPC159	29094	broad.mit.edu	37	chr2	64683599	64683599	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attccagaccagccattcagGgtgagtacctcgagtgcctc	10	13	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:64683599G>T	uc002scy.3	+	4	728	c.375G>T	c.(373-375)AGG>AGT	p.R125S		NM_014181	NP_054900	Q3ZCW2	LEGL_HUMAN	galectin-related protein	125	Galectin.					intracellular	sugar binding				0						AGCCATTCAGGGTGAGTACCT	0.502													T	64683599	G	T	64683599	3	4	43	1	0	0	0	0	1	0	0	0	7427	1246	43	5	389	5	HSPC159	2	64683599	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	3253212	64683599	178515774	59	35812											
AFTPH	54812	broad.mit.edu	37	chr2	64778861	64778862	+	Frame_Shift_Ins	INS	-	-	A													tacaagctttaagtccattaINSaaaatggtaatgataaggac							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:64778860_64778861T>TA	uc002sdc.3	+	0	284_285	c.252_253T>TA	c.(250-255)attaaafs	p.I84fs	AFTPH_uc002scz.3_Frame_Shift_Ins_p.I84fs|AFTPH_uc002sda.3_Frame_Shift_Ins_p.I84fs|AFTPH_uc002sdb.3_Frame_Shift_Ins_p.I84fs	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA.	84					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TTAAGTCCATTAAAAATGGTAA	0.356													A	64778862	-	A	64778861	7	5	43	1	0	1	1	0	0	0	0	0	364	363	13	0	255	0	AFTPH	2	64778861	Frame_Shift_Ins	INS	-	TCGA-BR-6802-01A-11D-1882-08	95262	64778861	178420512	60	35813											
FBXO41	150726	broad.mit.edu	37	chr2	73491512	73491512	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcagcatgcagcagtgtgCgcgtgtccaggtaggtgaag	17	9	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:73491512C>A	uc002sjb.1	-	6	1883	c.1883G>T	c.(1882-1884)CGC>CTC	p.R628L		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	567						intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						CAGCAGTGTGCGCGTGTCCAG	0.632													A	73491512	C	A	73491512	3	1	43	1	0	0	0	0	1	0	0	0	5750	768	27	5	959	5	FBXO41	2	73491512	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	8712651	73491512	169707861	61	35814											
MOGS	7841	broad.mit.edu	37	chr2	74689823	74689823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctctctaaagccttcagCatggctctccagggcctggg	12	14	3	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:74689823C>T	uc010ffj.2	-	4	1256	c.1093G>A	c.(1093-1095)GCT>ACT	p.A365T	MOGS_uc010ffh.2_Missense_Mutation_p.A90T|MOGS_uc010yrt.1_Missense_Mutation_p.A246T|MOGS_uc010ffi.2_Missense_Mutation_p.A259T	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	365	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity				0						AAGCCTTCAGCATGGCTCTCC	0.577													T	74689823	C	T	74689823	3	4	43	1	0	0	0	0	1	0	0	0	9697	710	25	2	1424	2	MOGS	2	74689823	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1198311	74689823	168509550	62	35815											
HTRA2	27429	broad.mit.edu	37	chr2	74760069	74760069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgcagatccggcggggacGagaaacactgaccttatatg	13	9	0	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:74760069G>A	uc002smi.1	+	8	1936	c.1334G>A	c.(1333-1335)CGA>CAA	p.R445Q	HTRA2_uc002smj.1_Missense_Mutation_p.R348Q|HTRA2_uc002smk.1_Missense_Mutation_p.R423Q|HTRA2_uc002sml.1_Missense_Mutation_p.R413Q|HTRA2_uc002smm.1_Missense_Mutation_p.R186Q|HTRA2_uc002smn.1_Missense_Mutation_p.R186Q|LOXL3_uc002smo.1_3'UTR|LOXL3_uc010ffm.1_3'UTR|LOXL3_uc002smp.1_3'UTR|LOXL3_uc002smq.1_3'UTR	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	445	PDZ.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1						CGGCGGGGACGAGAAACACTG	0.493													A	74760069	G	A	74760069	3	1	43	1	0	0	0	0	1	0	0	0	7454	1058	37	1	1364	1	HTRA2	2	74760069	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	70246	74760069	168439304	63	35816											
PROM2	150696	broad.mit.edu	37	chr2	95954315	95954315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagacctccaaatacttcCgtcctatccggaaacgcctc	5	16	1	1	rs35884217	byFrequency	TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:95954315C>T	uc002suh.1	+	22	2552	c.2419C>T	c.(2419-2421)CGT>TGT	p.R807C	PROM2_uc002sui.2_Missense_Mutation_p.R807C|PROM2_uc002suj.2_Missense_Mutation_p.R461C|PROM2_uc002suk.2_Missense_Mutation_p.R807C|PROM2_uc002sul.2_Missense_Mutation_p.R333C|PROM2_uc002sum.2_RNA	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	807	Cytoplasmic (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1						CAAATACTTCCGTCCTATCCG	0.597													T	95954315	C	T	95954315	3	4	43	1	0	0	0	0	1	0	0	0	12556	652	23	1	2505	1	PROM2	2	95954315	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	21194246	95954315	147245058	64	35817											
GPR45	11250	broad.mit.edu	37	chr2	105858611	105858611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcaccctcatcaccgtgcGctggcactttggggaccact	10	16	3	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:105858611G>A	uc002tco.1	+	1	412	c.296G>A	c.(295-297)CGC>CAC	p.R99H		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	99	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						ATCACCGTGCGCTGGCACTTT	0.632													A	105858611	G	A	105858611	3	1	43	1	0	0	0	0	1	0	0	0	6696	1087	38	1	298	1	GPR45	2	105858611	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	9904296	105858611	137340762	65	35818											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105886050	105886050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggcagtagtcctcggcCgctgcaaagtcctgcagctc	11	15	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:105886050C>T	uc002tcq.2	-	11	2169	c.2085G>A	c.(2083-2085)GCG>GCA	p.A695A	TGFBRAP1_uc010fjc.2_Silent_p.A464A|TGFBRAP1_uc002tcr.3_Silent_p.A695A	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor	695					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|skin(1)	2						AGTCCTCGGCCGCTGCAAAGT	0.652													T	105886050	C	T	105886050	2	4	43	1	0	0	0	0	0	0	0	1	15821	639	23	1		1	TGFBRAP1	2	105886050	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	27439	105886050	137313323	66	35819											
C2orf40	84417	broad.mit.edu	37	chr2	106694342	106694342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtccccggagcccctacgGctttaggcatggagccagcg	14	14	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:106694342G>A	uc010fjf.2	+	4	515	c.407G>A	c.(406-408)GGC>GAC	p.G136D		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	esophageal cancer related gene 4 protein	136						extracellular region|transport vesicle					0						AGCCCCTACGGCTTTAGGCAT	0.458													A	106694342	G	A	106694342	3	1	43	1	0	0	0	0	1	0	0	0	2165	1203	42	2	421	2	C2orf40	2	106694342	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	808292	106694342	136505031	67	35820											
TTL	150465	broad.mit.edu	37	chr2	113277874	113277874	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataggaactgcctcctgagCgtggagcctgccattagcac	11	13	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:113277874C>T	uc002thu.2	+	6	1070	c.891C>T	c.(889-891)AGC>AGT	p.S297S	TTL_uc010fkm.1_Intron	NM_153712	NP_714923	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	297	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		GCCTCCTGAGCGTGGAGCCTG	0.512			T	ETV6	ALL								T	113277874	C	T	113277874	2	4	43	1	0	0	0	0	0	0	0	1	16718	767	27	1		1	TTL	2	113277874	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	6583532	113277874	129921499	68	35821											
YSK4	80122	broad.mit.edu	37	chr2	135738842	135738842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacaccatctcaggcaatgGcccaaaacggtttataatac	7	11	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:135738842G>A	uc002tue.1	-	9	3500	c.3469C>T	c.(3469-3471)CCA>TCA	p.P1157S	YSK4_uc002tuf.1_Missense_Mutation_p.P339S|YSK4_uc010fnc.1_Missense_Mutation_p.P291S|YSK4_uc010fnd.1_Missense_Mutation_p.P1044S|YSK4_uc010zbg.1_Missense_Mutation_p.P289S|YSK4_uc002tuh.3_Missense_Mutation_p.P885S|YSK4_uc002tui.3_3'UTR	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	1157	Protein kinase.						ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCAGGCAATGGCCCAAAACGG	0.418													A	135738842	G	A	135738842	3	1	43	1	0	0	0	0	1	0	0	0	17492	1203	42	2	525	2	YSK4	2	135738842	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	22460968	135738842	107460531	69	35822											
R3HDM1	23518	broad.mit.edu	37	chr2	136473119	136473119	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgacgtattgtaattgcaGcacagccctcaactcagtag	8	11	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:136473119G>T	uc002tuo.2	+	23	3002	c.2632_splice	c.e23-1	p.H878_splice	R3HDM1_uc010fni.2_Splice_Site_p.H877_splice|R3HDM1_uc002tup.2_Splice_Site_p.H823_splice|R3HDM1_uc010zbh.1_Splice_Site_p.H626_splice	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1								nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		TGTAATTGCAGCACAGCCCTC	0.443													T	136473119	G	T	136473119	5	4	43	1	0	0	0	0	0	0	1	0	12887	985	34	5	2713	5	R3HDM1	2	136473119	Splice_Site	SNP	G	TCGA-BR-6802-01A-11D-1882-08	734277	136473119	106726254	70	35823											
HNMT	3176	broad.mit.edu	37	chr2	138771371	138771371	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgggacaagctgtggAaaaagtacggatcacgcttt	14	7	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:138771371A>G	uc002tvc.2	+	7	698	c.550A>G	c.(550-552)AAA>GAA	p.K184E	HNMT_uc002tvf.2_Missense_Mutation_p.K184E	NM_006895	NP_008826	P50135	HNMT_HUMAN	histamine N-methyltransferase isoform 1	184					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	CAAGCTGTGGAAAAAGTACGG	0.408													G	138771371	A	G	138771371	3	3	43	1	0	0	0	0	1	0	0	0	7255	247	9	3	790	3	HNMT	2	138771371	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	2298252	138771371	104428002	71	35824											
GALNT13	114805	broad.mit.edu	37	chr2	154996962	154996962	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcaatcagtttaacctTatggccagtgatttgattgc	7	7	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:154996962T>C	uc002tyr.3	+	4	822	c.255T>C	c.(253-255)CTT>CTC	p.L85L	GALNT13_uc002tyt.3_Silent_p.L85L|GALNT13_uc010foc.1_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	85	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						AGTTTAACCTTATGGCCAGTG	0.358													C	154996962	T	C	154996962	2	2	43	1	0	0	0	0	0	0	0	1	6211	1741	61	3		3	GALNT13	2	154996962	Silent	SNP	T	TCGA-BR-6802-01A-11D-1882-08	16225591	154996962	88202411	72	35825											
LRP2	4036	broad.mit.edu	37	chr2	170101424	170101424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catggccacaggtgaacgccGaagatgaacaggtattatct	11	9	1	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:170101424G>A	uc002ues.2	-	22	3422	c.3209C>T	c.(3208-3210)TCG>TTG	p.S1070L	LRP2_uc010zdf.1_Missense_Mutation_p.S933L	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1070	LDL-receptor class A 9.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGTGAACGCCGAAGATGAACA	0.468													A	170101424	G	A	170101424	3	1	43	1	0	0	0	0	1	0	0	0	8956	1059	37	1	10990	1	LRP2	2	170101424	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	15104462	170101424	73097949	73	35826											
TTC30A	92104	broad.mit.edu	37	chr2	178483032	178483032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctgctccaccaggctcCtggaccctggcagatcgccc	11	18	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:178483032C>T	uc002ulo.2	-	1	663	c.398G>A	c.(397-399)AGG>AAG	p.R133K		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	133					cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CACCAGGCTCCTGGACCCTGG	0.612													T	178483032	C	T	178483032	3	4	43	1	0	0	0	0	1	0	0	0	16695	681	24	4	1603	4	TTC30A	2	178483032	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	8381608	178483032	64716341	74	35827											
TTN	7273	broad.mit.edu	37	chr2	179423360	179423360	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttttcaggtgggcttggTttttctaagaaaacaaagca	10	5	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:179423360T>G	uc010zfg.1	-	276	79346	c.79122A>C	c.(79120-79122)AAA>AAC	p.K26374N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K20069N|TTN_uc010zfi.1_Missense_Mutation_p.K20002N|TTN_uc010zfj.1_Missense_Mutation_p.K19877N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27301							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGGCTTGGTTTTTCTAAGA	0.358													G	179423360	T	G	179423360	3	3	43	1	0	0	0	0	1	0	0	0	16732	1722	60	5	21297	5	TTN	2	179423360	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	940328	179423360	63776013	75	35828											
TTN	7273	broad.mit.edu	37	chr2	179439680	179439680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtccagtaggtggccctgGgatatcatggacttgaatgg	15	7	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:179439680G>A	uc010zfg.1	-	275	63699	c.63475C>T	c.(63475-63477)CCA>TCA	p.P21159S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P14854S|TTN_uc010zfi.1_Missense_Mutation_p.P14787S|TTN_uc010zfj.1_Missense_Mutation_p.P14662S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22086							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGGCCCTGGGATATCATGG	0.448													A	179439680	G	A	179439680	3	1	43	1	0	0	0	0	1	0	0	0	16732	1232	43	4	36948	4	TTN	2	179439680	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	16320	179439680	63759693	76	35829											
TTN	7273	broad.mit.edu	37	chr2	179447097	179447097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttattttcagcacaaataCggaactgatactcatggccc	6	10	2	1	rs72646868		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:179447097C>T	uc010zfg.1	-	263	58606	c.58382G>A	c.(58381-58383)CGT>CAT	p.R19461H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R13156H|TTN_uc010zfi.1_Missense_Mutation_p.R13089H|TTN_uc010zfj.1_Missense_Mutation_p.R12964H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20388							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCACAAATACGGAACTGATA	0.473													T	179447097	C	T	179447097	3	4	43	1	0	0	0	0	1	0	0	0	16732	536	19	1	42089	1	TTN	2	179447097	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	7417	179447097	63752276	77	35830											
TTN	7273	broad.mit.edu	37	chr2	179499969	179499969	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagatttctgcatcaaagcTtgcactttctttctcataaa	5	9	4	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:179499969T>C	uc010zfg.1	-	177	34467	c.34243A>G	c.(34243-34245)AGC>GGC	p.S11415G	TTN_uc010zfh.1_Missense_Mutation_p.S5110G|TTN_uc010zfi.1_Missense_Mutation_p.S5043G|TTN_uc010zfj.1_Missense_Mutation_p.S4918G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12342							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCATCAAAGCTTGCACTTTCT	0.393													C	179499969	T	C	179499969	3	2	43	1	0	0	0	0	1	0	0	0	16732	1609	56	3	66286	3	TTN	2	179499969	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	52872	179499969	63699404	78	35831											
PLCL1	5334	broad.mit.edu	37	chr2	198950517	198950517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagatacacggaattccagCggattgttcggaacaaagaa	11	7	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:198950517C>T	uc010fsp.2	+	2	2567	c.2276C>T	c.(2275-2277)GCG>GTG	p.A759V	PLCL1_uc002uuv.3_Missense_Mutation_p.A680V	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	759	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	GGAATTCCAGCGGATTGTTCG	0.418													T	198950517	C	T	198950517	3	4	43	1	0	0	0	0	1	0	0	0	12039	768	27	1	2282	1	PLCL1	2	198950517	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	19450548	198950517	44248856	79	35832											
ALS2	57679	broad.mit.edu	37	chr2	202587823	202587823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatagatagtatcatcttcGgaaagcaaaaccccatttcc	5	11	3	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:202587823G>A	uc002uyo.2	-	23	4001	c.3645C>T	c.(3643-3645)TCC>TCT	p.S1215S	ALS2_uc002uyp.3_Silent_p.S1215S|ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	1215	MORN 7.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7						TATCATCTTCGGAAAGCAAAA	0.353													A	202587823	G	A	202587823	2	1	43	1	0	0	0	0	0	0	0	1	550	1103	39	1		1	ALS2	2	202587823	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	3637306	202587823	40611550	80	35833											
ABI2	10152	broad.mit.edu	37	chr2	204267383	204267383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcgttgccctatagacGccctccttccattacttcac	7	16	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:204267383G>A	uc002vaa.2	+	9	1353	c.1118G>A	c.(1117-1119)CGC>CAC	p.R373H	ABI2_uc002uzz.2_Missense_Mutation_p.R306H|ABI2_uc010zih.1_Missense_Mutation_p.R21H|ABI2_uc010zii.1_Missense_Mutation_p.R367H|ABI2_uc010zij.1_Missense_Mutation_p.R250H|ABI2_uc002vab.2_Missense_Mutation_p.R261H|ABI2_uc010zik.1_Missense_Mutation_p.R98H|ABI2_uc010zil.1_Missense_Mutation_p.R208H|ABI2_uc010zim.1_Missense_Mutation_p.R159H|ABI2_uc002vac.2_Missense_Mutation_p.R159H|ABI2_uc010zin.1_Missense_Mutation_p.R21H	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	abl interactor 2	373	Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding				0						CCCTATAGACGCCCTCCTTCC	0.443													A	204267383	G	A	204267383	3	1	43	1	0	0	0	0	1	0	0	0	89	1087	38	1	943	1	ABI2	2	204267383	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1679560	204267383	38931990	81	35834											
FASTKD2	22868	broad.mit.edu	37	chr2	207651571	207651571	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgaattactttcccctggcTccttttaatcagcttctgca	5	12	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:207651571T>A	uc002vbu.2	+	8	1952	c.1542T>A	c.(1540-1542)GCT>GCA	p.A514A	FASTKD2_uc002vbv.2_Silent_p.A514A|FASTKD2_uc002vbx.2_Silent_p.A514A|FASTKD2_uc002vbw.1_Silent_p.A514A	NM_001136193	NP_001129665	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	514					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|skin(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TTCCCCTGGCTCCTTTTAATC	0.398													A	207651571	T	A	207651571	2	1	43	1	0	0	0	0	0	0	0	1	5686	1538	54	5		5	FASTKD2	2	207651571	Silent	SNP	T	TCGA-BR-6802-01A-11D-1882-08	3384188	207651571	35547802	82	35835											
MAP2	4133	broad.mit.edu	37	chr2	210561667	210561668	+	Frame_Shift_Ins	INS	-	-	A													taagaaggctgaacttgctaINSaaaaaacagaagttcaggcc							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:210561666_210561667T>TA	uc002vde.1	+	8	4661_4662	c.4413_4414T>TA	c.(4411-4416)gctaaafs	p.A1471fs	MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Frame_Shift_Ins_p.A1467fs	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1471					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.T1474fs*14(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CTGAACTTGCTAAAAAAACAGA	0.366													A	210561668	-	A	210561667	7	5	43	1	0	1	1	0	0	0	0	0	9235	363	13	0	4436	0	MAP2	2	210561667	Frame_Shift_Ins	INS	-	TCGA-BR-6802-01A-11D-1882-08	2910096	210561667	32637706	83	35836											
CPS1	1373	broad.mit.edu	37	chr2	211512675	211512675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatggtgtcaagatcatggGcacaagccccctgcagatcg	12	11	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:211512675G>A	uc002vee.3	+	26	3362	c.3230G>A	c.(3229-3231)GGC>GAC	p.G1077D	CPS1_uc010fur.2_Missense_Mutation_p.G1083D|CPS1_uc010fus.2_Missense_Mutation_p.G626D	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	1077					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AAGATCATGGGCACAAGCCCC	0.507													A	211512675	G	A	211512675	3	1	43	1	0	0	0	0	1	0	0	0	3823	1203	42	2	3354	2	CPS1	2	211512675	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	951008	211512675	31686698	84	35837											
MREG	55686	broad.mit.edu	37	chr2	216809668	216809668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggcttcttggggtaagttCgacgagcaagcttaaagaac	12	8	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:216809668C>T	uc002vfo.2	-	5	859	c.563G>A	c.(562-564)CGA>CAA	p.R188Q	MREG_uc002vfq.2_RNA	NM_018000	NP_060470	Q8N565	MREG_HUMAN	whn-dependent transcript 2	188						apical plasma membrane					0		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		GGGGTAAGTTCGACGAGCAAG	0.498													T	216809668	C	T	216809668	3	4	43	1	0	0	0	0	1	0	0	0	9760	884	31	1	85	1	MREG	2	216809668	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	5296993	216809668	26389705	85	35838											
TMEM169	92691	broad.mit.edu	37	chr2	216964784	216964784	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actgaccaaacctaaagagtCatcaagggaaacgacgcctg	9	11	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:216964784C>A	uc010zjr.1	+	4	739	c.413C>A	c.(412-414)TCA>TAA	p.S138*	TMEM169_uc010zjs.1_Nonsense_Mutation_p.S138*|TMEM169_uc002vfw.2_Nonsense_Mutation_p.S138*|TMEM169_uc002vfv.3_Nonsense_Mutation_p.S138*	NM_001142310	NP_001135782	Q96HH4	TM169_HUMAN	transmembrane protein 169	138	Extracellular (Potential).					integral to membrane				ovary(1)	1		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTAAAGAGTCATCAAGGGAA	0.542													A	216964784	C	A	216964784	4	1	43	1	0	0	0	0	0	1	0	0	16081	838	29	5	419	5	TMEM169	2	216964784	Nonsense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	155116	216964784	26234589	86	35839											
TNS1	7145	broad.mit.edu	37	chr2	218683363	218683363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctggtagtttctctggGcagacgggctgggctgtccc	15	11	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:218683363G>A	uc002vgt.2	-	24	3778	c.3380C>T	c.(3379-3381)GCC>GTC	p.A1127V	TNS1_uc002vgr.2_Missense_Mutation_p.A1114V|TNS1_uc002vgs.2_Missense_Mutation_p.A1106V|TNS1_uc010zjv.1_Missense_Mutation_p.A1106V	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1127	Ser-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GTTTCTCTGGGCAGACGGGCT	0.632													A	218683363	G	A	218683363	3	1	43	1	0	0	0	0	1	0	0	0	16340	1203	42	2	1867	2	TNS1	2	218683363	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1718579	218683363	24516010	87	35840											
TTLL4	9654	broad.mit.edu	37	chr2	219603187	219603187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtactggagactgtgcacCgcagcctgttgaccataagg	14	10	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:219603187C>T	uc002viy.2	+	3	1158	c.788C>T	c.(787-789)CCG>CTG	p.P263L	TTLL4_uc010zkl.1_Missense_Mutation_p.P98L|TTLL4_uc010fvx.2_Missense_Mutation_p.P263L	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	263					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GACTGTGCACCGCAGCCTGTT	0.572													T	219603187	C	T	219603187	3	4	43	1	0	0	0	0	1	0	0	0	16726	652	23	1	790	1	TTLL4	2	219603187	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	919824	219603187	23596186	88	35841											
TRIP12	9320	broad.mit.edu	37	chr2	230672480	230672480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggccccgatcatcacGccactgccatatcgcaccat	7	18	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:230672480G>A	uc002vpw.1	-	16	2405	c.2296C>T	c.(2296-2298)CGT>TGT	p.R766C	TRIP12_uc002vpx.1_Missense_Mutation_p.R814C|TRIP12_uc002vpy.1_Missense_Mutation_p.R469C|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.R772C	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	766	WWE.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CGATCATCACGCCACTGCCAT	0.433													A	230672480	G	A	230672480	3	1	43	1	0	0	0	0	1	0	0	0	16553	1087	38	1	3786	1	TRIP12	2	230672480	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	11069293	230672480	12526893	89	35842											
DIS3L2	129563	broad.mit.edu	37	chr2	233194613	233194613	+	Frame_Shift_Del	DEL	C	C	-													caggccctgctgcgccggcaCcccccgccccaaacaaggat							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:233194612_233194612AC>A	uc010fxz.3	+	14	2105	c.1829_1829AC>A	c.(1828-1830)cacfs	p.H610fs	DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.	610							RNA binding|exonuclease activity|ribonuclease activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CTGCGCCGGCACCCCCCGCCC	0.642													-	233194613	C	-	233194613	7	5	43	1	0	1	0	1	0	0	0	0	4537	506	18	0	1884	0	DIS3L2	2	233194613	Frame_Shift_Del	DEL	C	TCGA-BR-6802-01A-11D-1882-08	2522133	233194613	10004760	90	35843											
ECEL1	9427	broad.mit.edu	37	chr2	233350780	233350780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcatgggtcgcgggcccagtCgctcgatctcgcgcatgtcg	15	14	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:233350780C>T	uc002vsv.2	-	2	789	c.584G>A	c.(583-585)CGA>CAA	p.R195Q	ECEL1_uc010fya.1_Missense_Mutation_p.R195Q|ECEL1_uc010fyb.1_5'UTR	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	195	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CGGGCCCAGTCGCTCGATCTC	0.602													T	233350780	C	T	233350780	3	4	43	1	0	0	0	0	1	0	0	0	4891	884	31	1	1811	1	ECEL1	2	233350780	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	156167	233350780	9848593	91	35844											
CHRNG	1146	broad.mit.edu	37	chr2	233407735	233407735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacgtcatcaacatcatcGccccctgtgtgctcatctcc	5	17	6	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:233407735G>A	uc002vsx.1	+	7	769	c.748G>A	c.(748-750)GCC>ACC	p.A250T	CHRNG_uc010fye.1_Missense_Mutation_p.A198T	NM_005199	NP_005190	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma	250	Helical; (Potential).				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CAACATCATCGCCCCCTGTGT	0.607													A	233407735	G	A	233407735	3	1	43	1	0	0	0	0	1	0	0	0	3396	1087	38	1	774	1	CHRNG	2	233407735	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	56955	233407735	9791638	92	35845											
GIGYF2	26058	broad.mit.edu	37	chr2	233652024	233652024	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggatggagagaggtggCgacctcacagtcctggtaag	18	7	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr2:233652024C>T	uc002vti.3	+	11	1034	c.697C>T	c.(697-699)CGA>TGA	p.R233*	GIGYF2_uc010zmj.1_Nonsense_Mutation_p.R233*|GIGYF2_uc002vtg.2_Nonsense_Mutation_p.R233*|GIGYF2_uc002vtj.3_Nonsense_Mutation_p.R255*|GIGYF2_uc002vtk.3_Nonsense_Mutation_p.R233*|GIGYF2_uc002vth.3_Nonsense_Mutation_p.R233*|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Nonsense_Mutation_p.R64*	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	233	Arg-rich.				cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGAGAGGTGGCGACCTCACAG	0.428													T	233652024	C	T	233652024	4	4	43	1	0	0	0	0	0	1	0	0	6378	760	27	1	793	1	GIGYF2	2	233652024	Nonsense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	244289	233652024	9547349	93	35846											
CAMK1	8536	broad.mit.edu	37	chr3	9802450	9802450	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagggagggtaaccgcagAgcctgggcagggagaaactc	17	8	0	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:9802450A>G	uc003bst.2	-	8	813	c.635T>C	c.(634-636)CTC>CCC	p.L212P	OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA|CAMK1_uc003bss.2_5'Flank|uc003bsv.1_RNA	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	212	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)|skin(1)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GTAACCGCAGAGCCTGGGCAG	0.557													G	9802450	A	G	9802450	3	3	43	1	0	0	0	0	1	0	0	0	2596	304	11	3	497	3	CAMK1	3	9802450	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08		9802450	188219980	94	35847											
CAND2	23066	broad.mit.edu	37	chr3	12858445	12858445	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgggctttgcgactggccAcactggcagccctggacgcc	14	15	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:12858445A>G	uc003bxk.2	+	10	2063	c.2014A>G	c.(2014-2016)ACA>GCA	p.T672A	CAND2_uc003bxj.2_Missense_Mutation_p.T579A	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	672	HEAT 14.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						GCGACTGGCCACACTGGCAGC	0.662													G	12858445	A	G	12858445	3	3	43	1	0	0	0	0	1	0	0	0	2616	159	6	3	2052	3	CAND2	3	12858445	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	3055995	12858445	185163985	95	35848											
NUP210	23225	broad.mit.edu	37	chr3	13372104	13372104	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	accttttcgggtccatccagGacgcggtagctcagagaggc	13	12	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:13372104G>T	uc003bxv.1	-	30	4049	c.3966C>A	c.(3964-3966)GTC>GTA	p.V1322V		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1322	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					GTCCATCCAGGACGCGGTAGC	0.512													T	13372104	G	T	13372104	2	4	43	1	0	0	0	0	0	0	0	1	10760	1161	41	5		5	NUP210	3	13372104	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	513659	13372104	184650326	96	35849											
C3orf20	84077	broad.mit.edu	37	chr3	14744719	14744719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaacagcctggagttcagCgacccctgccctgaggcccg	12	17	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:14744719C>T	uc003byy.2	+	6	1232	c.828C>T	c.(826-828)AGC>AGT	p.S276S	C3orf20_uc003byz.2_Silent_p.S154S|C3orf20_uc003bza.2_Silent_p.S154S|C3orf20_uc003byx.1_Silent_p.S276S	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	276						cytoplasm|integral to membrane				ovary(3)|skin(1)	4						TGGAGTTCAGCGACCCCTGCC	0.597													T	14744719	C	T	14744719	2	4	43	1	0	0	0	0	0	0	0	1	2213	767	27	1		1	C3orf20	3	14744719	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1372615	14744719	183277711	97	35850											
GALNTL2	117248	broad.mit.edu	37	chr3	16237382	16237382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcatcctcgacacagtgCccagggccttcctgaaggag	11	14	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:16237382C>T	uc003car.3	+	2	1130	c.655C>T	c.(655-657)CCC>TCC	p.P219S	GALNTL2_uc003caq.3_5'UTR	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	219	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1						CGACACAGTGCCCAGGGCCTT	0.617													T	16237382	C	T	16237382	3	4	43	1	0	0	0	0	1	0	0	0	6222	739	26	2	661	2	GALNTL2	3	16237382	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1492663	16237382	181785048	98	35851											
KAT2B	8850	broad.mit.edu	37	chr3	20113953	20113953	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgtagccatgccctaggTgagttcctaaatcttcaagg	10	9	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:20113953T>C	uc003cbq.2	+	2	876	c.430_splice	c.e2+2	p.A144_splice		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B						cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						ATGCCCTAGGTGAGTTCCTAA	0.458													C	20113953	T	C	20113953	5	2	43	1	0	0	0	0	0	0	1	0	7982	1710	59	3	438	3	KAT2B	3	20113953	Splice_Site	SNP	T	TCGA-BR-6802-01A-11D-1882-08	3876571	20113953	177908477	99	35852											
GPD1L	23171	broad.mit.edu	37	chr3	32181857	32181857	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagttctgtgagaccaccatCggtaagcactgcctgggagg	13	10	1	1	rs139369157	by1000genomes	TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:32181857C>T	uc003cew.2	+	4	564	c.504C>T	c.(502-504)ATC>ATT	p.I168I		NM_015141	NP_055956	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	168					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity				0						AGACCACCATCGGTAAGCACT	0.473													T	32181857	C	T	32181857	2	4	43	1	0	0	0	0	0	0	0	1	6605	898	31	1		1	GPD1L	3	32181857	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	12067904	32181857	165840573	100	35853											
MLH1	4292	broad.mit.edu	37	chr3	37053348	37053348	+	Frame_Shift_Del	DEL	A	A	-													caggcattagtttctcagttAaaaaagtaagttcttggttt					rs35847123		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:37053347_37053347TA>T	uc003cgl.3	+	6	780	c.582_582TA>T	c.(580-582)gttfs	p.V194fs	MLH1_uc011aye.2_5'UTR|MLH1_uc011ayb.2_5'UTR|MLH1_uc010hge.3_Frame_Shift_Del_p.V194fs|MLH1_uc011ayc.2_Frame_Shift_Del_p.V96fs|MLH1_uc011ayd.2_5'UTR|MLH1_uc003cgo.3_5'UTR|MLH1_uc003cgn.4_5'UTR|MLH1_uc010hgg.1_5'Flank|MLH1_uc010hgh.1_5'Flank|MLH1_uc010hgi.1_5'Flank|MLH1_uc010hgj.1_5'Flank|MLH1_uc010hgk.3_5'Flank|MLH1_uc010hgl.1_5'Flank	NM_000249	NP_001161091	P40692	MLH1_HUMAN	Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA.	194					mismatch repair|somatic hypermutation of immunoglobulin genes	MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GTTTCTCAGTTAAAAAAGTAA	0.343		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				-	37053348	A	-	37053348	7	5	43	1	0	1	0	1	0	0	0	0	9617	363	13	0	609	0	MLH1	3	37053348	Frame_Shift_Del	DEL	A	TCGA-BR-6802-01A-11D-1882-08	4871491	37053348	160969082	101	35854											
XIRP1	165904	broad.mit.edu	37	chr3	39227701	39227701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtggctgttggggtggggCcctgcttgtgcttgttcaga	17	7	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:39227701C>T	uc003cjk.1	-	2	3457	c.3236G>A	c.(3235-3237)GGC>GAC	p.G1079D	XIRP1_uc003cji.2_Missense_Mutation_p.G1079D|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1079							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGGGGTGGGGCCCTGCTTGTG	0.627													T	39227701	C	T	39227701	3	4	43	1	0	0	0	0	1	0	0	0	17426	739	26	2	2299	2	XIRP1	3	39227701	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	2174353	39227701	158794729	102	35855											
RPL14	9045	broad.mit.edu	37	chr3	40499484	40499484	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttattgatcagaacagggTaagtgtcacaactttttact	8	6	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:40499484T>C	uc003ckg.2	+	2	156	c.105_splice	c.e2+2	p.R35_splice	RPL14_uc003ckh.2_Splice_Site_p.R35_splice|RPL14_uc003cki.2_Splice_Site	NM_003973	NP_003964	P50914	RL14_HUMAN	ribosomal protein L14						endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAGAACAGGGTAAGTGTCACA	0.483													C	40499484	T	C	40499484	5	2	43	1	0	0	0	0	0	0	1	0	13561	1652	57	3	120	3	RPL14	3	40499484	Splice_Site	SNP	T	TCGA-BR-6802-01A-11D-1882-08	1271783	40499484	157522946	103	35856											
ZNF197	10168	broad.mit.edu	37	chr3	44684226	44684226	+	Frame_Shift_Del	DEL	A	A	-													ccagagaatccactctggggAaaaaccctataaatgtgatg							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:44684225_44684225GA>G	uc003cnm.3	+	5	1809	c.1603_1603GA>G	c.(1603-1605)gaafs	p.E535fs	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	535					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		CCACTCTGGGGAAAAACCCTA	0.433													-	44684226	A	-	44684226	7	5	43	1	0	1	0	1	0	0	0	0	17756	246	9	0	1622	0	ZNF197	3	44684226	Frame_Shift_Del	DEL	A	TCGA-BR-6802-01A-11D-1882-08	4184742	44684226	153338204	104	35857											
EXOSC7	23016	broad.mit.edu	37	chr3	45038710	45038710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctctgcattagtcctcGggagcactgctgggttctct	11	13	2	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:45038710G>A	uc003coi.2	+	4	415	c.386G>A	c.(385-387)CGG>CAG	p.R129Q	EXOSC7_uc003coh.1_Missense_Mutation_p.R64Q|EXOSC7_uc011bae.1_Missense_Mutation_p.R129Q|EXOSC7_uc010his.1_Missense_Mutation_p.R48Q|EXOSC7_uc003coj.2_Missense_Mutation_p.R129Q	NM_015004	NP_055819	Q15024	EXOS7_HUMAN	exosome component 7	129					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		ATTAGTCCTCGGGAGCACTGC	0.473													A	45038710	G	A	45038710	3	1	43	1	0	0	0	0	1	0	0	0	5319	1116	39	1	400	1	EXOSC7	3	45038710	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	354484	45038710	152983720	105	35858											
CCR2	729230	broad.mit.edu	37	chr3	46399668	46399668	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctggtcctgccgctgctcaTcatggtcatctgctactcgg	11	14	4	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:46399668T>A	uc003cpn.3	+	2	1135	c.650T>A	c.(649-651)ATC>AAC	p.I217N	CCR2_uc003cpm.3_Missense_Mutation_p.I217N	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2 isoform A	217	Helical; Name=5; (Potential).				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			lung(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CCGCTGCTCATCATGGTCATC	0.468													A	46399668	T	A	46399668	3	1	43	1	0	0	0	0	1	0	0	0	2941	1435	50	5	652	5	CCR2	3	46399668	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	1360958	46399668	151622762	106	35859											
COL7A1	1294	broad.mit.edu	37	chr3	48602300	48602300	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acggttggcattccctccacAgccaccatagacaaaagggt	9	13	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:48602300A>G	uc003ctz.2	-	117	8735	c.8734T>C	c.(8734-8736)TGT>CGT	p.C2912R	UCN2_uc003cty.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2912	Nonhelical region (NC2).|BPTI/Kunitz inhibitor.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCCCTCCACAGCCACCATAG	0.657													G	48602300	A	G	48602300	3	3	43	1	0	0	0	0	1	0	0	0	3704	188	7	3	108	3	COL7A1	3	48602300	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	2202632	48602300	149420130	107	35860											
RHOA	387	broad.mit.edu	37	chr3	49412922	49412922	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcaaacactgtgggcacaTacacctctgggaactggtcc	9	13	2	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:49412922T>C	uc003cwu.2	-	2	377	c.101A>G	c.(100-102)TAT>TGT	p.Y34C	RHOA_uc010hku.2_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	34	Effector region (Potential).			Y->F: Abolishes AMPylation by Haemophilus IbpA.|Y->A: Abolishes interaction with DGKQ.	axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	TGTGGGCACATACACCTCTGG	0.463													C	49412922	T	C	49412922	3	2	43	1	0	0	0	0	1	0	0	0	13331	1406	49	3	496	3	RHOA	3	49412922	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	810622	49412922	148609508	108	35861											
CDHR4	389118	broad.mit.edu	37	chr3	49836453	49836453	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcaaattgaccagcacacTggatatggctaaggtcccgc	11	11	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:49836453T>C	uc010hkz.2	-	3	386	c.377A>G	c.(376-378)CAG>CGG	p.Q126R	CDHR4_uc003cxp.2_Missense_Mutation_p.Q126R|CDHR4_uc011bcw.1_Missense_Mutation_p.Q126R	NM_001007540	NP_001007541	A6H8M9	CDHR4_HUMAN	cadherin-like 29 precursor	126	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						ACCAGCACACTGGATATGGCT	0.602													C	49836453	T	C	49836453	3	2	43	1	0	0	0	0	1	0	0	0	3121	1580	55	3	2057	3	CDHR4	3	49836453	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	423531	49836453	148185977	109	35862											
DOCK3	1795	broad.mit.edu	37	chr3	51196730	51196730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatcgttgcccatgtgatccGaataggtactgttcacctta	8	10	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:51196730G>A	uc011bds.1	+	11	907	c.884G>A	c.(883-885)CGA>CAA	p.R295Q		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	295						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CATGTGATCCGAATAGGTACT	0.388													A	51196730	G	A	51196730	3	1	43	1	0	0	0	0	1	0	0	0	4688	1058	37	1	926	1	DOCK3	3	51196730	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1360277	51196730	146825700	110	35863											
TMEM110	375346	broad.mit.edu	37	chr3	52883877	52883877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgacggcgcgcacccccaCgtagatgagcagcatgccca	12	16	0	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:52883877C>T	uc003dge.2	-	4	439	c.358G>A	c.(358-360)GTG>ATG	p.V120M	TMEM110_uc003dgc.3_Missense_Mutation_p.V120M	NM_198563	NP_940965	Q86TL2	TM110_HUMAN	transmembrane protein 110	120	Helical; (Potential).					integral to membrane				large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		CGCACCCCCACGTAGATGAGC	0.622													T	52883877	C	T	52883877	3	4	43	1	0	0	0	0	1	0	0	0	16024	536	19	1	546	1	TMEM110	3	52883877	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1687147	52883877	145138553	111	35864											
CACNA1D	776	broad.mit.edu	37	chr3	53700399	53700399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggacccagctccatgtgCgttctcagggaatggacgcc	13	12	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:53700399C>T	uc003dgv.3	+	7	1116	c.953C>T	c.(952-954)GCG>GTG	p.A318V	CACNA1D_uc003dgu.3_Missense_Mutation_p.A318V|CACNA1D_uc003dgy.3_Missense_Mutation_p.A318V|CACNA1D_uc003dgw.3_5'UTR	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	318	Extracellular (Potential).|I.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCTCCATGTGCGTTCTCAGGG	0.537													T	53700399	C	T	53700399	3	4	43	1	0	0	0	0	1	0	0	0	2541	768	27	1	979	1	CACNA1D	3	53700399	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	816522	53700399	144322031	112	35865											
ERC2	26059	broad.mit.edu	37	chr3	56044541	56044541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaggtctttgttctcttttCggaaggattctatctcttct	7	9	6	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:56044541C>T	uc003dhr.1	-	9	2112	c.1856G>A	c.(1855-1857)CGA>CAA	p.R619Q	ERC2_uc003dht.1_Missense_Mutation_p.R90Q	NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	619	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTTCTCTTTTCGGAAGGATTC	0.393													T	56044541	C	T	56044541	3	4	43	1	0	0	0	0	1	0	0	0	5211	884	31	1	1043	1	ERC2	3	56044541	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	2344142	56044541	141977889	113	35866											
ATXN7	6314	broad.mit.edu	37	chr3	63965643	63965643	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggccgttcctcccacttcAgtattttccttcttcccttc	4	16	2	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:63965643A>G	uc003dlw.3	+	6	1105	c.552A>G	c.(550-552)TCA>TCG	p.S184S	ATXN7_uc003dlv.2_Silent_p.S184S|ATXN7_uc010hnv.2_Silent_p.S184S|ATXN7_uc010hnw.2_Silent_p.S39S|ATXN7_uc011bfn.1_Silent_p.S39S	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	184	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CTCCCACTTCAGTATTTTCCT	0.458													G	63965643	A	G	63965643	2	3	43	1	0	0	0	0	0	0	0	1	1215	175	7	3		3	ATXN7	3	63965643	Silent	SNP	A	TCGA-BR-6802-01A-11D-1882-08	7921102	63965643	134056787	114	35867											
ADAMTS9	56999	broad.mit.edu	37	chr3	64532503	64532503	+	Frame_Shift_Del	DEL	G	G	-													aggtaacaggggtgaacactGgggggctgcgtgcctgggca							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:64532502_64532502TG>T	uc003dmg.3	-	31	5028	c.4996_4996CA>A	c.(4996-4998)agtfs	p.S1666fs	ADAMTS9_uc011bfo.2_Frame_Shift_Del_p.S1638fs|ADAMTS9_uc011bfp.1_Frame_Shift_Del_p.S577fs	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1666	TSP type-1 14.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGGTGAACACTGGGGGGCTGC	0.537													-	64532503	G	-	64532503	7	5	43	1	0	1	0	1	0	0	0	0	273	1335	47	0	844	0	ADAMTS9	3	64532503	Frame_Shift_Del	DEL	G	TCGA-BR-6802-01A-11D-1882-08	566860	64532503	133489927	115	35868											
PDZRN3	23024	broad.mit.edu	37	chr3	73433966	73433966	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgccattgttctcttgctccGagctctcgtcattacgggtg	10	13	3	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:73433966G>T	uc003dpl.1	-	10	1847	c.1751C>A	c.(1750-1752)TCG>TAG	p.S584*	PDZRN3_uc011bgh.1_Nonsense_Mutation_p.S241*|PDZRN3_uc010hoe.1_Nonsense_Mutation_p.S282*|PDZRN3_uc011bgf.1_Nonsense_Mutation_p.S301*|PDZRN3_uc011bgg.1_Nonsense_Mutation_p.S304*	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	584							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTCTTGCTCCGAGCTCTCGTC	0.642													T	73433966	G	T	73433966	4	4	43	1	0	0	0	0	0	1	0	0	11709	1059	37	5	1453	5	PDZRN3	3	73433966	Nonsense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	8901463	73433966	124588464	116	35869											
CNTN3	5067	broad.mit.edu	37	chr3	74474047	74474047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaactccctggccttcacGcacagacactgtactcctca	5	18	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:74474047G>A	uc003dpm.1	-	4	483	c.403C>T	c.(403-405)CGT>TGT	p.R135C		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	135	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGGCCTTCACGCACAGACACT	0.398													A	74474047	G	A	74474047	3	1	43	1	0	0	0	0	1	0	0	0	3642	1087	38	1	2759	1	CNTN3	3	74474047	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1040081	74474047	123548383	117	35870											
ROBO1	6091	broad.mit.edu	37	chr3	78649287	78649287	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattcttcattattatcttcTcctctttcatatcctccaag	1	12	6	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:78649287T>C	uc003dqe.2	-	30	5125	c.4917A>G	c.(4915-4917)GGA>GGG	p.G1639G	ROBO1_uc003dqb.2_Silent_p.G1600G|ROBO1_uc003dqc.2_Silent_p.G1539G|ROBO1_uc003dqd.2_Silent_p.G1594G|ROBO1_uc010hoh.2_Silent_p.G831G	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1639	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TATTATCTTCTCCTCTTTCAT	0.363													C	78649287	T	C	78649287	2	2	43	1	0	0	0	0	0	0	0	1	13513	1538	54	3		3	ROBO1	3	78649287	Silent	SNP	T	TCGA-BR-6802-01A-11D-1882-08	4175240	78649287	119373143	118	35871											
EPHA3	2042	broad.mit.edu	37	chr3	89468398	89468398	+	Frame_Shift_Del	DEL	A	A	-													ggtcgcttaaaacttccttcAaaaaaagagatttcagtggc							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:89468397_89468397CA>C	uc003dqy.3	+	10	2156	c.1931_1931CA>C	c.(1930-1932)tcafs	p.S644fs	EPHA3_uc021xbf.1_Frame_Shift_Del_p.S644fs	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	644	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AAACTTCCTTCAAAAAAAGAG	0.393										TSP Lung(6;0.00050)			-	89468398	A	-	89468398	7	5	43	1	0	1	0	1	0	0	0	0	5168	117	5	0	2000	0	EPHA3	3	89468398	Frame_Shift_Del	DEL	A	TCGA-BR-6802-01A-11D-1882-08	10819111	89468398	108554032	119	35872											
EPHA6	285220	broad.mit.edu	37	chr3	96962894	96962894	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acacaggagggagaaaagatCtcacatacagtgtaatctgt	10	7	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:96962894C>G	uc010how.1	+	5	1412	c.1369C>G	c.(1369-1371)CTC>GTC	p.L457V	EPHA6_uc003drp.1_Missense_Mutation_p.L457V	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	362	Fibronectin type-III 1.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						GAGAAAAGATCTCACATACAG	0.478													G	96962894	C	G	96962894	3	3	43	1	0	0	0	0	1	0	0	0	5171	913	32	5	1387	5	EPHA6	3	96962894	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	7494496	96962894	101059536	120	35873											
OR5AC2	81050	broad.mit.edu	37	chr3	97806749	97806749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccttctccacatgcggcGcccatctgctttctgtctca	7	16	4	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:97806749G>A	uc011bgs.1	+	1	733	c.733G>A	c.(733-735)GCC>ACC	p.A245T		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC,	245	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CACATGCGGCGCCCATCTGCT	0.423													A	97806749	G	A	97806749	3	1	43	1	0	0	0	0	1	0	0	0	11141	1087	38	1	735	1	OR5AC2	3	97806749	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	843855	97806749	100215681	121	35874											
HHLA2	11148	broad.mit.edu	37	chr3	108072517	108072517	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatgagattcaaaatgggaAtgcgtcgctatttttcagaa	9	5	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:108072517A>G	uc003dwy.3	+	4	475	c.308A>G	c.(307-309)AAT>AGT	p.N103S	HHLA2_uc011bhl.1_Intron|HHLA2_uc010hpu.2_Missense_Mutation_p.N103S|HHLA2_uc003dwz.2_Missense_Mutation_p.N103S	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2 precursor	103	Ig-like V-type 1.					integral to membrane				ovary(1)	1						CAAAATGGGAATGCGTCGCTA	0.403													G	108072517	A	G	108072517	3	3	43	1	0	0	0	0	1	0	0	0	7095	101	4	3	314	3	HHLA2	3	108072517	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	10265768	108072517	89949913	122	35875											
KIAA1524	57650	broad.mit.edu	37	chr3	108298166	108298166	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attttaggattcttaaggagAtccatcagtaggtcaactga	9	6	3	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:108298166A>T	uc003dxb.3	-	7	1049	c.780T>A	c.(778-780)GAT>GAA	p.D260E	KIAA1524_uc003dxc.1_Missense_Mutation_p.D101E|KIAA1524_uc010hpw.1_Missense_Mutation_p.D101E	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	260						cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3						TCTTAAGGAGATCCATCAGTA	0.323													T	108298166	A	T	108298166	3	4	43	1	0	0	0	0	1	0	0	0	8239	330	12	5	1997	5	KIAA1524	3	108298166	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	225649	108298166	89724264	123	35876											
CCDC80	151887	broad.mit.edu	37	chr3	112324517	112324517	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccgtcttttccgactagaAgcatggagaagtactccggg	11	10	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:112324517A>C	uc003dzf.2	-	8	2818	c.2600T>G	c.(2599-2601)CTT>CGT	p.L867R	CCDC80_uc011bhv.1_Missense_Mutation_p.L840R|CCDC80_uc003dzg.2_Missense_Mutation_p.L867R	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	867										ovary(2)	2						TCCGACTAGAAGCATGGAGAA	0.448													C	112324517	A	C	112324517	3	2	43	1	0	0	0	0	1	0	0	0	2854	72	3	5	256	5	CCDC80	3	112324517	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	4026351	112324517	85697913	124	35877											
SIDT1	54847	broad.mit.edu	37	chr3	113320434	113320434	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcttcactttttttaacaGgctctggaaatatggtggca	8	9	3	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:113320434G>T	uc003eak.2	+	11	1697	c.1046_splice	c.e11-1	p.G349_splice	SIDT1_uc011bif.1_Splice_Site|SIDT1_uc003eaj.1_Splice_Site_p.G349_splice|SIDT1_uc011big.1_Splice_Site_p.G102_splice|SIDT1_uc011bih.1_5'Flank	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor							integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						TTTTTTAACAGGCTCTGGAAA	0.413													T	113320434	G	T	113320434	5	4	43	1	0	0	0	0	0	0	1	0	14302	1014	35	5	1087	5	SIDT1	3	113320434	Splice_Site	SNP	G	TCGA-BR-6802-01A-11D-1882-08	995917	113320434	84701996	125	35878											
MYLK	4638	broad.mit.edu	37	chr3	123368044	123368044	+	Splice_Site	DEL	G	G	-													ccacttcatccttcggctctGgggggggcacaaggaaggac					rs138786404		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:123368043_123368043TG>T	uc003ego.3	-	25	4571	c.4289_splice	c.e25-1	p.E1430_splice	MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.E230_splice|MYLK_uc011bjw.2_Splice_Site_p.E1430_splice|MYLK_uc003egp.3_Splice_Site_p.E1361_splice|MYLK_uc003egq.3_Splice_Site_p.E1430_splice|MYLK_uc003egr.3_Splice_Site_p.E1361_splice|MYLK_uc003egs.3_Splice_Site_p.E1254_splice	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1430	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCA	0.622													-	123368044	G	-	123368044	8	5	43	1	0	1	0	1	0	0	1	0	10056	1363	47	0		0	MYLK	3	123368044	Splice_Site	DEL	G	TCGA-BR-6802-01A-11D-1882-08	10047610	123368044	74654386	126	35879											
SLC12A8	84561	broad.mit.edu	37	chr3	124829094	124829094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaatgcactgcaggatgCggggagctccataaagtcct	14	10	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:124829094C>T	uc003ehv.3	-	9	1109	c.998G>A	c.(997-999)CGC>CAC	p.R333H	SLC12A8_uc003ehw.3_Missense_Mutation_p.R362H|SLC12A8_uc003eht.3_Missense_Mutation_p.R134H|SLC12A8_uc003ehu.3_Missense_Mutation_p.R86H|SLC12A8_uc010hry.2_Missense_Mutation_p.R86H	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	333					potassium ion transport	integral to membrane	symporter activity				0						CTGCAGGATGCGGGGAGCTCC	0.507													T	124829094	C	T	124829094	3	4	43	1	0	0	0	0	1	0	0	0	14389	768	27	1	1170	1	SLC12A8	3	124829094	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1461050	124829094	73193336	127	35880											
TF	7018	broad.mit.edu	37	chr3	133486949	133486949	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgtgtatgggctcaggCctaaacctgtgtgaacccaa	11	10	1	1	rs34657694		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:133486949C>T	uc003epu.1	+	18	3291	c.1563C>T	c.(1561-1563)GGC>GGT	p.G521G	TF_uc011blt.1_Silent_p.G394G|TF_uc003epw.1_Intron|TF_uc003epv.1_Silent_p.G521G	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	521	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TGGGCTCAGGCCTAAACCTGT	0.448													T	133486949	C	T	133486949	2	4	43	1	0	0	0	0	0	0	0	1	15782	726	26	2		2	TF	3	133486949	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	8657855	133486949	64535481	128	35881											
CHST2	9435	broad.mit.edu	37	chr3	142840554	142840554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggagtgccgcaagtaccGcacactagtcataaagggtg	14	9	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:142840554G>A	uc003evm.2	+	2	1785	c.896G>A	c.(895-897)CGC>CAC	p.R299H		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	299	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3						CGCAAGTACCGCACACTAGTC	0.647													A	142840554	G	A	142840554	3	1	43	1	0	0	0	0	1	0	0	0	3404	1087	38	1	898	1	CHST2	3	142840554	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	9353605	142840554	55181876	129	35882											
WWTR1	25937	broad.mit.edu	37	chr3	149290705	149290705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactggtgtggaactgaCggcagggtggaggttcatat	17	6	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:149290705C>T	uc003exe.2	-	2	530	c.514G>A	c.(514-516)GTC>ATC	p.V172I	WWTR1_uc003exf.2_Missense_Mutation_p.V172I|WWTR1_uc011bns.1_Missense_Mutation_p.V172I|WWTR1_uc003exh.2_Missense_Mutation_p.V172I	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	172					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GTGGAACTGACGGCAGGGTGG	0.413													T	149290705	C	T	149290705	3	4	43	1	0	0	0	0	1	0	0	0	17414	536	19	1	708	1	WWTR1	3	149290705	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	6450151	149290705	48731725	130	35883											
FAM194A	131831	broad.mit.edu	37	chr3	150403619	150403619	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacgttcttagagaaggctcGaacagtgttatgaagtcttc	10	7	2	2	rs149996868		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:150403619G>A	uc003eyg.2	-	6	750	c.693C>T	c.(691-693)TTC>TTT	p.F231F	FAM194A_uc003eyh.2_Silent_p.F85F	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	231										skin(2)|ovary(1)	3						GAGAAGGCTCGAACAGTGTTA	0.383													A	150403619	G	A	150403619	2	1	43	1	0	0	0	0	0	0	0	1	5526	1049	37	1		1	FAM194A	3	150403619	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1112914	150403619	47618811	131	35884											
PLCH1	23007	broad.mit.edu	37	chr3	155199080	155199080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacgactagcaatattgcGcactctgctctgacttctgg	10	12	3	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:155199080G>A	uc011bok.1	-	23	5036	c.4759C>T	c.(4759-4761)CGC>TGC	p.R1587C	PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.R1549C	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	1587					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCAATATTGCGCACTCTGCTC	0.512													A	155199080	G	A	155199080	3	1	43	1	0	0	0	0	1	0	0	0	12037	1087	38	1	326	1	PLCH1	3	155199080	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	4795461	155199080	42823350	132	35885											
PLCH1	23007	broad.mit.edu	37	chr3	155203278	155203278	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtggtcctcctcagcacGccatcttgatctcttgtggc	10	14	3	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:155203278G>A	uc011bok.1	-	22	3142	c.2865C>T	c.(2863-2865)GGC>GGT	p.G955G	PLCH1_uc011boj.1_Silent_p.G955G|PLCH1_uc011bol.1_Silent_p.G917G	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	955					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCCTCAGCACGCCATCTTGAT	0.522													A	155203278	G	A	155203278	2	1	43	1	0	0	0	0	0	0	0	1	12037	1074	38	1		1	PLCH1	3	155203278	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	4198	155203278	42819152	133	35886											
TNFSF10	8743	broad.mit.edu	37	chr3	172241098	172241098	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccacacagagagactgcAggagcactgtgaagatcacg	12	11	1	4			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:172241098A>C	uc003fid.2	-	1	172	c.77T>G	c.(76-78)CTG>CGG	p.L26R	TNFSF10_uc003fie.2_Missense_Mutation_p.L26R|TNFSF10_uc010hwu.1_RNA	NM_003810	NP_003801	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily,	26	Helical; Signal-anchor for type II membrane protein; (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			skin(4)|lung(1)	5	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GAGAGACTGCAGGAGCACTGT	0.547													C	172241098	A	C	172241098	3	2	43	1	0	0	0	0	1	0	0	0	16298	188	7	5	788	5	TNFSF10	3	172241098	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	17037820	172241098	25781332	134	35887											
PIK3CA	5290	broad.mit.edu	37	chr3	178936092	178936092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctctctctgaaatcactgAgcaggagaaagattttctat	7	9	4	4	rs121913274		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:178936092A>G	uc003fjk.2	+	10	1791	c.1634A>G	c.(1633-1635)GAG>GGG	p.E545G		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAATCACTGAGCAGGAGAAA	0.353	E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545A(AGS_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178936092	A	G	178936092	3	3	43	1	0	0	0	0	1	0	0	0	11913	304	11	3	1668	3	PIK3CA	3	178936092	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	6694994	178936092	19086338	135	35888											
USP13	8975	broad.mit.edu	37	chr3	179478997	179478997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttcactggaaatatgggCgccgaggtggccttcaactg	12	10	2	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:179478997C>T	uc003fkh.2	+	17	2127	c.2046C>T	c.(2044-2046)GGC>GGT	p.G682G		NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	682	UBA 1.				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GAAATATGGGCGCCGAGGTGG	0.522													T	179478997	C	T	179478997	2	4	43	1	0	0	0	0	0	0	0	1	17041	755	27	1		1	USP13	3	179478997	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	542905	179478997	18543433	136	35889											
EIF4G1	1981	broad.mit.edu	37	chr3	184038434	184038434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagatccgaattcgagatcCaaaccaaggaggaaaggata	10	9	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:184038434C>T	uc003fnp.2	+	8	752	c.554C>T	c.(553-555)CCA>CTA	p.P185L	EIF4G1_uc003fno.1_Missense_Mutation_p.P126L|EIF4G1_uc010hxw.1_Missense_Mutation_p.P21L|EIF4G1_uc003fnt.2_5'UTR|EIF4G1_uc003fnq.2_Missense_Mutation_p.P98L|EIF4G1_uc003fnr.2_Missense_Mutation_p.P21L|EIF4G1_uc010hxx.2_Missense_Mutation_p.P192L|EIF4G1_uc003fns.2_Missense_Mutation_p.P145L|EIF4G1_uc010hxy.2_Missense_Mutation_p.P192L|EIF4G1_uc010hxz.1_Missense_Mutation_p.P98L|EIF4G1_uc003fnv.3_Missense_Mutation_p.P185L|EIF4G1_uc003fnu.3_Missense_Mutation_p.P185L|EIF4G1_uc003fnw.2_Missense_Mutation_p.P192L|EIF4G1_uc003fnx.2_5'UTR|EIF4G1_uc003fny.3_5'UTR	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	185	PABPC1-binding.			DPNQ->AAAA: Loss of PABPC1 binding; when associated with 174-AAAAA-178.	insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATTCGAGATCCAAACCAAGGA	0.537													T	184038434	C	T	184038434	3	4	43	1	0	0	0	0	1	0	0	0	5036	594	21	4	576	4	EIF4G1	3	184038434	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	4559437	184038434	13983996	137	35890											
EIF4G1	1981	broad.mit.edu	37	chr3	184044360	184044360	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctctttgcacctggagggCgactgagctggggcaagggc	17	10	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:184044360C>T	uc003fnp.2	+	22	3466	c.3268C>T	c.(3268-3270)CGA>TGA	p.R1090*	EIF4G1_uc003fnt.2_Nonsense_Mutation_p.R801*|EIF4G1_uc003fnq.2_Nonsense_Mutation_p.R1003*|EIF4G1_uc003fnr.2_Nonsense_Mutation_p.R926*|EIF4G1_uc010hxx.2_Nonsense_Mutation_p.R1097*|EIF4G1_uc003fns.2_Nonsense_Mutation_p.R1050*|EIF4G1_uc010hxy.2_Nonsense_Mutation_p.R1097*|EIF4G1_uc003fnv.3_Nonsense_Mutation_p.R1091*|EIF4G1_uc003fnu.3_Nonsense_Mutation_p.R1090*|EIF4G1_uc003fnw.2_Nonsense_Mutation_p.R1097*|EIF4G1_uc003fnx.2_Nonsense_Mutation_p.R895*|EIF4G1_uc003fny.3_Nonsense_Mutation_p.R894*|EIF4G1_uc003foa.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1090					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACCTGGAGGGCGACTGAGCTG	0.597													T	184044360	C	T	184044360	4	4	43	1	0	0	0	0	0	1	0	0	5036	760	27	1	3346	1	EIF4G1	3	184044360	Nonsense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	5926	184044360	13978070	138	35891											
EPHB3	2049	broad.mit.edu	37	chr3	184297328	184297328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccctaatgaggctgttcGggagtttgccaaggagatcg	15	8	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:184297328G>A	uc003foz.2	+	10	2302	c.1865G>A	c.(1864-1866)CGG>CAG	p.R622Q		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	622	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GAGGCTGTTCGGGAGTTTGCC	0.552													A	184297328	G	A	184297328	3	1	43	1	0	0	0	0	1	0	0	0	5176	1116	39	1	1903	1	EPHB3	3	184297328	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	252968	184297328	13725102	139	35892											
TP63	8626	broad.mit.edu	37	chr3	189604248	189604248	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaacaaaatgaacagcaTgaacaagctgccttctgtga	8	9	2	4			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:189604248T>C	uc003fry.2	+	11	1504	c.1415T>C	c.(1414-1416)ATG>ACG	p.M472T	TP63_uc003frz.2_Missense_Mutation_p.M472T|TP63_uc010hzc.1_Missense_Mutation_p.M472T|TP63_uc003fsc.2_Missense_Mutation_p.M378T|TP63_uc003fsd.2_Missense_Mutation_p.M378T|TP63_uc010hzd.1_Missense_Mutation_p.M293T	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	472					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ATGAACAGCATGAACAAGCTG	0.488									Hay-Wells_syndrome	HNSCC(45;0.13)			C	189604248	T	C	189604248	3	2	43	1	0	0	0	0	1	0	0	0	16389	1464	51	3	1622	3	TP63	3	189604248	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	5306920	189604248	8418182	140	35893											
LRRC15	131578	broad.mit.edu	37	chr3	194081221	194081221	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtgagatgtgggtgagGctattcttgcccagattgag	16	6	1	4			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:194081221G>A	uc003ftu.2	-	2	638	c.552C>T	c.(550-552)AGC>AGT	p.S184S	LRRC15_uc003ftt.2_Silent_p.S190S	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15 isoform b	184	Extracellular (Potential).|LRR 6.					integral to membrane				ovary(3)	3	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TGTGGGTGAGGCTATTCTTGC	0.572													A	194081221	G	A	194081221	2	1	43	1	0	0	0	0	0	0	0	1	8970	1194	42	2		2	LRRC15	3	194081221	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	4476973	194081221	3941209	141	35894											
MUC4	4585	broad.mit.edu	37	chr3	195480005	195480005	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggggcaggtgcacatgggcTgacagcccagagtctgggag	19	9	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr3:195480005T>C	uc011bto.1	-	21	15501	c.15041A>G	c.(15040-15042)CAG>CGG	p.Q5014R	MUC4_uc010hzq.2_5'UTR|MUC4_uc003fuz.2_Missense_Mutation_p.Q740R|MUC4_uc003fva.2_Missense_Mutation_p.Q622R|MUC4_uc003fvb.2_Missense_Mutation_p.Q658R|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.Q658R|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.Q622R|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.Q706R|MUC4_uc011bti.1_Missense_Mutation_p.Q706R|MUC4_uc011btj.1_Missense_Mutation_p.Q883R|MUC4_uc011btk.1_Missense_Mutation_p.Q622R|MUC4_uc011btl.1_Missense_Mutation_p.Q651R|MUC4_uc011btm.1_Missense_Mutation_p.Q831R|MUC4_uc011btn.1_Missense_Mutation_p.Q622R|MUC4_uc003fvo.2_Missense_Mutation_p.Q906R|MUC4_uc003fvp.2_Missense_Mutation_p.Q855R	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1899	EGF-like 1.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCACATGGGCTGACAGCCCAG	0.582													C	195480005	T	C	195480005	3	2	43	1	0	0	0	0	1	0	0	0	9978	1580	55	3	837	3	MUC4	3	195480005	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	1398784	195480005	2542425	142	35895											
KIAA1530	57654	broad.mit.edu	37	chr4	1343557	1343557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaggcaggcgaccacccGggccgtggaagggtggaatg	19	10	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr4:1343557G>A	uc003gde.3	+	3	791	c.344G>A	c.(343-345)CGG>CAG	p.R115Q		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	115											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			GCGACCACCCGGGCCGTGGAA	0.622													A	1343557	G	A	1343557	3	1	43	1	0	0	0	0	1	0	0	0	8241	1116	39	1	350	1	KIAA1530	4	1343557	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08		1343557	189810719	143	35896											
ZBTB49	166793	broad.mit.edu	37	chr4	4303754	4303754	+	Frame_Shift_Del	DEL	T	T	-													ttcaagccagaagaatgatgTttttcacttggatgttaaaa							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr4:4303753_4303753GT>G	uc003ghu.3	+	2	365	c.190_190GT>G	c.(190-192)gttfs	p.V64fs	ZBTB49_uc003ghv.3_Intron|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_5'Flank	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA.	64	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GAAGAATGATGTTTTTCACTT	0.353													-	4303754	T	-	4303754	7	5	43	1	0	1	0	1	0	0	0	0	17547	1725	60	0	197	0	ZBTB49	4	4303754	Frame_Shift_Del	DEL	T	TCGA-BR-6802-01A-11D-1882-08	2960197	4303754	186850522	144	35897											
JAKMIP1	152789	broad.mit.edu	37	chr4	6080672	6080672	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgcaggctcaccttgggCggtttcagacttttccctcg	10	14	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr4:6080672C>T	uc003giu.3	-	8	1572	c.1296G>A	c.(1294-1296)CCG>CCA	p.P432P	JAKMIP1_uc010idb.1_Silent_p.P432P|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Silent_p.P432P|JAKMIP1_uc011bwc.1_Silent_p.P267P|JAKMIP1_uc003giv.3_Silent_p.P432P|JAKMIP1_uc010ide.2_Silent_p.P432P	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	432	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						TCACCTTGGGCGGTTTCAGAC	0.577													T	6080672	C	T	6080672	2	4	43	1	0	0	0	0	0	0	0	1	7940	755	27	1		1	JAKMIP1	4	6080672	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1776918	6080672	185073604	145	35898											
CPZ	8532	broad.mit.edu	37	chr4	8613861	8613861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagggggagcatcatcaaCggggcggactggtacagctt	16	8	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr4:8613861C>T	uc003glm.2	+	8	1461	c.1335C>T	c.(1333-1335)AAC>AAT	p.N445N	CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Silent_p.N308N|CPZ_uc003glo.2_Silent_p.N434N|CPZ_uc003glp.2_RNA	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z isoform 1	445					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3						GCATCATCAACGGGGCGGACT	0.413													T	8613861	C	T	8613861	2	4	43	1	0	0	0	0	0	0	0	1	3839	535	19	1		1	CPZ	4	8613861	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	2533189	8613861	182540415	146	35899											
SEL1L3	23231	broad.mit.edu	37	chr4	25849011	25849011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatgatctttgaaagggCgttcaaaaggcgggatggtc	14	6	2	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr4:25849011C>T	uc003gru.3	-	2	790	c.638G>A	c.(637-639)CGC>CAC	p.R213H		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	213						integral to membrane	binding				0						TTTGAAAGGGCGTTCAAAAGG	0.458													T	25849011	C	T	25849011	3	4	43	1	0	0	0	0	1	0	0	0	14012	768	27	1	2852	1	SEL1L3	4	25849011	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	17235150	25849011	165305265	147	35900											
GRXCR1	389207	broad.mit.edu	37	chr4	42965093	42965093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagttagacgaacgatgccGacgagtttctgaagctcctt	11	9	1	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr4:42965093G>A	uc003gwt.2	+	2	569	c.569G>A	c.(568-570)CGA>CAA	p.R190Q		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	190	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1						GAACGATGCCGACGAGTTTCT	0.428													A	42965093	G	A	42965093	3	1	43	1	0	0	0	0	1	0	0	0	6812	1058	37	1	575	1	GRXCR1	4	42965093	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	17116082	42965093	148189183	148	35901											
ATP10D	57205	broad.mit.edu	37	chr4	47593216	47593216	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catcaaagtatgctaaccaaTcagctggcaagtcaggaaga	9	9	3	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr4:47593216T>A	uc003gxk.1	+	23	4263	c.4099T>A	c.(4099-4101)TCA>ACA	p.S1367T	ATP10D_uc003gxl.1_Missense_Mutation_p.S615T	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1367	Cytoplasmic (Potential).|ATP (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						TGCTAACCAATCAGCTGGCAA	0.463													A	47593216	T	A	47593216	3	1	43	1	0	0	0	0	1	0	0	0	1118	1435	50	5	4185	5	ATP10D	4	47593216	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	4628123	47593216	143561060	149	35902											
FRYL	285527	broad.mit.edu	37	chr4	48545898	48545898	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agaaagtgtagttgcagtgaGaggctgctttagggccctga	15	6	0	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr4:48545898G>C	uc003gyh.1	-	44	6123	c.5518C>G	c.(5518-5520)CTC>GTC	p.L1840V	FRYL_uc003gyg.1_Missense_Mutation_p.L536V|FRYL_uc003gyi.1_Missense_Mutation_p.L728V|FRYL_uc003gyj.1_Missense_Mutation_p.L135V	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1840					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						GTTGCAGTGAGAGGCTGCTTT	0.443													C	48545898	G	C	48545898	3	2	43	1	0	0	0	0	1	0	0	0	6064	942	33	5	3607	5	FRYL	4	48545898	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	952682	48545898	142608378	150	35903											
SRD5A3	79644	broad.mit.edu	37	chr4	56233814	56233814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttccatattcttgggatgAtgatgttcatctggtcatct	10	7	5	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr4:56233814A>G	uc003hau.2	+	4	717	c.622A>G	c.(622-624)ATG>GTG	p.M208V	uc003hav.1_Intron|uc003haw.1_Intron	NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	208	Helical; (Potential).				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor				0	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			TCTTGGGATGATGATGTTCAT	0.408													G	56233814	A	G	56233814	3	3	43	1	0	0	0	0	1	0	0	0	15139	333	12	3	636	3	SRD5A3	4	56233814	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	7687916	56233814	134920462	151	35904											
LPHN3	23284	broad.mit.edu	37	chr4	62845287	62845287	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cattgtgtttccagcacagtGatgcggtccatgacctcctt	9	12	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr4:62845287G>T	uc010ihh.2	+	15	2781	c.2608G>T	c.(2608-2610)GAT>TAT	p.D870Y	LPHN3_uc003hcq.3_Missense_Mutation_p.D870Y|LPHN3_uc003hct.2_Missense_Mutation_p.D263Y	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	857	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						CCAGCACAGTGATGCGGTCCA	0.418													T	62845287	G	T	62845287	3	4	43	1	0	0	0	0	1	0	0	0	8917	1290	45	5	2666	5	LPHN3	4	62845287	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	6611473	62845287	128308989	152	35905											
PROL1	58503	broad.mit.edu	37	chr4	71275496	71275498	+	In_Frame_Del	DEL	ACA	ACA	-													taaacatcaccaccgcagatAcaacaatcaccacaaatccc							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr4:71275495_71275497TACA>T	uc003hfi.3	+	2	624_626	c.450_452TACA>T	c.(448-453)gataca>gaTa	p.T152del		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	152	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CCACCGCAGATACAACAATCACC	0.443													-	71275498	ACA	-	71275496	7	5	43	1	0	1	0	1	0	0	0	0	12554	391	14	0	457	0	PROL1	4	71275496	In_Frame_Del	DEL	ACA	TCGA-BR-6802-01A-11D-1882-08	8430209	71275496	119878780	153	35906											
BMP2K	55589	broad.mit.edu	37	chr4	79832739	79832739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactttgaagcctacctatcGcactccagagagggctcgca	10	13	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr4:79832739G>A	uc003hlk.2	+	16	3204	c.3038G>A	c.(3037-3039)CGC>CAC	p.R1013H	PAQR3_uc003hlm.2_Intron|PAQR3_uc003hln.2_Intron|uc010ijm.1_5'Flank	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	1013						nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1						CCTACCTATCGCACTCCAGAG	0.488													A	79832739	G	A	79832739	3	1	43	1	0	0	0	0	1	0	0	0	1460	1087	38	1	3138	1	BMP2K	4	79832739	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	8557243	79832739	111321537	154	35907											
AFF1	4299	broad.mit.edu	37	chr4	88035905	88035905	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagggcttcttccctatggCtcccgagaccagacttccaa	8	16	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr4:88035905C>T	uc003hqj.3	+	11	2306	c.1899C>T	c.(1897-1899)GGC>GGT	p.G633G	AFF1_uc011ccz.1_Silent_p.G640G|AFF1_uc003hqk.3_Silent_p.G633G|AFF1_uc011cda.1_Silent_p.G271G	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	633						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TTCCCTATGGCTCCCGAGACC	0.612													T	88035905	C	T	88035905	2	4	43	1	0	0	0	0	0	0	0	1	356	784	28	2		2	AFF1	4	88035905	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	8203166	88035905	103118371	155	35908											
DSPP	1834	broad.mit.edu	37	chr4	88535421	88535421	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtaacaatgggaatgatgAcaatgacaaatcagacagtg	11	5	1	4			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr4:88535421A>G	uc003hqu.2	+	5	1727	c.1607A>G	c.(1606-1608)GAC>GGC	p.D536G		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein preproprotein	536	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			central_nervous_system(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GGGAATGATGACAATGACAAA	0.264													G	88535421	A	G	88535421	3	3	43	1	0	0	0	0	1	0	0	0	4782	275	10	3	1621	3	DSPP	4	88535421	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	499516	88535421	102618855	156	35909											
CFI	3426	broad.mit.edu	37	chr4	110687927	110687927	+	Frame_Shift_Del	DEL	T	T	-													tcgcaggagaggtgagtataTttttttgctaagcacttttt							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr4:110687926_110687926AT>A	uc011cft.2	-	1	320	c.112_112AT>T	c.(112-114)tatfs	p.Y38fs	CFI_uc003hzr.4_Frame_Shift_Del_p.Y38fs	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	38					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AGGTGAGTATATTTTTTTGCT	0.398													-	110687927	T	-	110687927	7	5	43	1	0	1	0	1	0	0	0	0	3289	1490	52	0	1688	0	CFI	4	110687927	Frame_Shift_Del	DEL	T	TCGA-BR-6802-01A-11D-1882-08	22152506	110687927	80466349	157	35910											
NDST3	9348	broad.mit.edu	37	chr4	119176867	119176867	+	Nonstop_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagctgcagaaagtaagataGcactgagagaaaacttgaga	12	5	0	5			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr4:119176867G>T	uc003ibx.2	+	14	3025	c.2622G>T	c.(2620-2622)TAG>TAT	p.*874Y		NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	874						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						AAGTAAGATAGCACTGAGAGA	0.458													T	119176867	G	T	119176867	4	4	43	1	0	0	0	0	0	0	0	0	10257	966	34	5	2672	5	NDST3	4	119176867	Nonstop_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	8488940	119176867	71977409	158	35911											
KIAA1109	84162	broad.mit.edu	37	chr4	123229133	123229133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggctgaattataaggccGcctatgacaactggaatgaa	10	7	0	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr4:123229133G>A	uc003ieh.2	+	56	9916	c.9871G>A	c.(9871-9873)GCC>ACC	p.A3291T	KIAA1109_uc003iel.1_Missense_Mutation_p.A1226T	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3291					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TTATAAGGCCGCCTATGACAA	0.353													A	123229133	G	A	123229133	3	1	43	1	0	0	0	0	1	0	0	0	8208	1087	38	1	10093	1	KIAA1109	4	123229133	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	4052266	123229133	67925143	159	35912											
FAT4	79633	broad.mit.edu	37	chr4	126389938	126389938	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgaagaaggtgtcagatggAcattttcacactgtgattgc	11	6	2	4			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr4:126389938A>T	uc003ifj.3	+	11	12171	c.12171A>T	c.(12169-12171)GGA>GGT	p.G4057G	FAT4_uc011cgp.1_Silent_p.G2320G|FAT4_uc003ifi.1_Silent_p.G1535G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4057	Laminin G-like 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGTCAGATGGACATTTTCACA	0.368													T	126389938	A	T	126389938	2	4	43	1	0	0	0	0	0	0	0	1	5692	262	10	5		5	FAT4	4	126389938	Silent	SNP	A	TCGA-BR-6802-01A-11D-1882-08	3160805	126389938	64764338	160	35913											
POU4F2	5458	broad.mit.edu	37	chr4	147561536	147561536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcgcttcaagcagcgacGcatcaagctgggggtgaccc	14	13	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr4:147561536G>A	uc003ikv.2	+	2	1054	c.806G>A	c.(805-807)CGC>CAC	p.R269H		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	269	POU-specific.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)	1	all_hematologic(180;0.151)					AAGCAGCGACGCATCAAGCTG	0.687													A	147561536	G	A	147561536	3	1	43	1	0	0	0	0	1	0	0	0	12279	1087	38	1	812	1	POU4F2	4	147561536	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	21171598	147561536	43592740	161	35914											
SFRP2	6423	broad.mit.edu	37	chr4	154709838	154709838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggtattcgatgccgtgGcacagctgcaggttggcagg	15	9	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr4:154709838G>A	uc003inv.1	-	1	391	c.150C>T	c.(148-150)TGC>TGT	p.C50C		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2 precursor	50	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.093)	Renal(120;0.117)				CGATGCCGTGGCACAGCTGCA	0.647													A	154709838	G	A	154709838	2	1	43	1	0	0	0	0	0	0	0	1	14162	1195	42	2		2	SFRP2	4	154709838	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	7148302	154709838	36444438	162	35915											
DDX60	55601	broad.mit.edu	37	chr4	169227857	169227857	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcagggaagttgaaataCgcatactcggcatcctgtgg	12	8	1	1	rs140161501		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr4:169227857C>T	uc003irp.2	-	5	571	c.279G>A	c.(277-279)GCG>GCA	p.A93A		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	93							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGTTGAAATACGCATACTCGG	0.363													T	169227857	C	T	169227857	2	4	43	1	0	0	0	0	0	0	0	1	4378	523	19	1		1	DDX60	4	169227857	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	14518019	169227857	21926419	163	35916											
C4orf41	60684	broad.mit.edu	37	chr4	184622881	184622881	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggagagagtgctagtgaAtgcttttgtcttcaatgccc	11	8	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr4:184622881A>G	uc003ivx.2	+	26	3059	c.2883A>G	c.(2881-2883)GAA>GAG	p.E961E	C4orf41_uc003ivw.2_Silent_p.E961E|C4orf41_uc010isc.2_Silent_p.E305E|C4orf41_uc003ivy.2_Silent_p.E567E	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	961											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		GTGCTAGTGAATGCTTTTGTC	0.378													G	184622881	A	G	184622881	2	3	43	1	0	0	0	0	0	0	0	1	2270	98	4	3		3	C4orf41	4	184622881	Silent	SNP	A	TCGA-BR-6802-01A-11D-1882-08	15395024	184622881	6531395	164	35917											
LPCAT1	79888	broad.mit.edu	37	chr5	1489881	1489881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggccactttccgttggActgcgcccgtctcttgattt	10	13	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr5:1489881A>G	uc003jcm.2	-	4	703	c.586T>C	c.(586-588)TCC>CCC	p.S196P		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	196	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TTTCCGTTGGACTGCGCCCGT	0.502													G	1489881	A	G	1489881	3	3	43	1	0	0	0	0	1	0	0	0	8910	275	10	3	1062	3	LPCAT1	5	1489881	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08		1489881	179425379	165	35918											
CDH18	1016	broad.mit.edu	37	chr5	19571802	19571802	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaggcatggaaaatagtggtGgttcatctacatccccaaca	9	9	2	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr5:19571802G>C	uc003jgc.2	-	7	1516	c.1139C>G	c.(1138-1140)CCA>CGA	p.P380R	CDH18_uc003jgd.2_Missense_Mutation_p.P380R|CDH18_uc011cnm.1_Missense_Mutation_p.P380R	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	380	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AAATAGTGGTGGTTCATCTAC	0.423													C	19571802	G	C	19571802	3	2	43	1	0	0	0	0	1	0	0	0	3103	1348	47	5	1257	5	CDH18	5	19571802	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	18081921	19571802	161343458	166	35919											
RXFP3	51289	broad.mit.edu	37	chr5	33938026	33938026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctactgcctcgtgcgccGcgagttccgcaaggcgctca	11	17	2	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr5:33938026G>A	uc003jic.1	+	1	1538	c.1181G>A	c.(1180-1182)CGC>CAC	p.R394H		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	394	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						CTCGTGCGCCGCGAGTTCCGC	0.632													A	33938026	G	A	33938026	3	1	43	1	0	0	0	0	1	0	0	0	13761	1087	38	1	1183	1	RXFP3	5	33938026	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	14366224	33938026	146977234	167	35920											
UGT3A2	167127	broad.mit.edu	37	chr5	36049272	36049272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatcagtcagcaaggaacGgaatactggaacataagaca	11	7	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr5:36049272G>A	uc003jjz.1	-	4	655	c.562C>T	c.(562-564)CGT>TGT	p.R188C	UGT3A2_uc011cos.1_Missense_Mutation_p.R154C|UGT3A2_uc011cot.1_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	188	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCAAGGAACGGAATACTGGA	0.463													A	36049272	G	A	36049272	3	1	43	1	0	0	0	0	1	0	0	0	16961	1116	39	1	1025	1	UGT3A2	5	36049272	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	2111246	36049272	144865988	168	35921											
NIPBL	25836	broad.mit.edu	37	chr5	37006531	37006531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttacaaaatcagcggatGcttgtcttacaactatcaac	7	9	3	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr5:37006531G>A	uc003jkl.3	+	17	4427	c.3928G>A	c.(3928-3930)GCT>ACT	p.A1310T	NIPBL_uc003jkk.3_Missense_Mutation_p.A1310T	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1310					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATCAGCGGATGCTTGTCTTAC	0.343													A	37006531	G	A	37006531	3	1	43	1	0	0	0	0	1	0	0	0	10428	1319	46	2	3990	2	NIPBL	5	37006531	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	957259	37006531	143908729	169	35922											
NUP155	9631	broad.mit.edu	37	chr5	37314427	37314427	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatcttttcacttagttgaGcctctaatgagaaaacaaaa	5	7	3	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr5:37314427G>T	uc003jku.1	-	22	2427	c.2309C>A	c.(2308-2310)GCT>GAT	p.A770D	NUP155_uc003jkt.1_Missense_Mutation_p.A711D|NUP155_uc010iuz.1_Missense_Mutation_p.A770D	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	770					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTTAGTTGAGCCTCTAATGA	0.308													T	37314427	G	T	37314427	3	4	43	1	0	0	0	0	1	0	0	0	10756	971	34	5	1922	5	NUP155	5	37314427	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	307896	37314427	143600833	170	35923											
RGNEF	64283	broad.mit.edu	37	chr5	73205302	73205302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctccagcagcaggagggCctgtctctcggccactctat	11	14	3	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr5:73205302C>T	uc011csq.1	+	33	4238	c.4227C>T	c.(4225-4227)GGC>GGT	p.G1409G	RGNEF_uc003kcx.2_Silent_p.G1409G|RGNEF_uc010izf.2_Silent_p.G1409G|RGNEF_uc011csr.1_Silent_p.G1096G|RGNEF_uc003kcz.3_Silent_p.G373G|RGNEF_uc003kda.3_Silent_p.G329G	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Rho-guanine nucleotide exchange factor	1409					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding				0		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		AGCAGGAGGGCCTGTCTCTCG	0.602													T	73205302	C	T	73205302	2	4	43	1	0	0	0	0	0	0	0	1	13283	726	26	2		2	RGNEF	5	73205302	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	35890875	73205302	107709958	171	35924											
F2RL2	2151	broad.mit.edu	37	chr5	75914009	75914009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggagcagtacatgttgcCatagaagatgactgtggtgg	14	5	0	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr5:75914009C>T	uc003kem.2	-	2	708	c.523G>A	c.(523-525)GGC>AGC	p.G175S	IQGAP2_uc003kek.2_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron|F2RL2_uc011csw.1_Missense_Mutation_p.G153S	NM_004101	NP_004092	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	175	Helical; Name=3; (Potential).				platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			skin(2)|ovary(1)	3		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		TACATGTTGCCATAGAAGATG	0.512													T	75914009	C	T	75914009	3	4	43	1	0	0	0	0	1	0	0	0	5345	594	21	4	605	4	F2RL2	5	75914009	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	2708707	75914009	105001251	172	35925											
VCAN	1462	broad.mit.edu	37	chr5	82837780	82837780	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcttctgccacctatggggtCgaggcaggtgtggtgccttg	16	10	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr5:82837780C>T	uc003kii.3	+	8	9314	c.8958C>T	c.(8956-8958)GTC>GTT	p.V2986V	VCAN_uc003kij.3_Silent_p.V1999V|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.V1650V	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2986	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCTATGGGGTCGAGGCAGGTG	0.488													T	82837780	C	T	82837780	2	4	43	1	0	0	0	0	0	0	0	1	17135	871	31	1		1	VCAN	5	82837780	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	6923771	82837780	98077480	173	35926											
GPR98	84059	broad.mit.edu	37	chr5	90074728	90074728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagattttggccatgtgcGactctggtacaagacgatga	13	7	1	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr5:90074728G>A	uc003kju.2	+	64	12992	c.12896G>A	c.(12895-12897)CGA>CAA	p.R4299Q	GPR98_uc003kjt.2_Missense_Mutation_p.R2005Q|GPR98_uc003kjw.2_5'Flank	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	4299	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGCCATGTGCGACTCTGGTAC	0.453													A	90074728	G	A	90074728	3	1	43	1	0	0	0	0	1	0	0	0	6721	1058	37	1	13150	1	GPR98	5	90074728	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	7236948	90074728	90840532	174	35927											
NR2F1	7025	broad.mit.edu	37	chr5	92921019	92921019	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacaagtcgagcggcaagcActacggccaattcacctgcg	12	13	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr5:92921019A>G	uc003kkj.2	+	1	1977	c.290A>G	c.(289-291)CAC>CGC	p.H97R		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	97	NR C4-type.|Nuclear receptor.				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		AGCGGCAAGCACTACGGCCAA	0.632													G	92921019	A	G	92921019	3	3	43	1	0	0	0	0	1	0	0	0	10627	159	6	3	292	3	NR2F1	5	92921019	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	2846291	92921019	87994241	175	35928											
LNPEP	4012	broad.mit.edu	37	chr5	96341852	96341852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggatttcctttagtgactGttcaaaagaaaggaaaggaa	10	4	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr5:96341852G>A	uc003kmv.1	+	10	2375	c.1861G>A	c.(1861-1863)GTT>ATT	p.V621I	LNPEP_uc003kmw.1_Missense_Mutation_p.V607I	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	621	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTTAGTGACTGTTCAAAAGAA	0.328													A	96341852	G	A	96341852	3	1	43	1	0	0	0	0	1	0	0	0	8864	1377	48	4	1899	4	LNPEP	5	96341852	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	3420833	96341852	84573408	176	35929											
APC	324	broad.mit.edu	37	chr5	112176676	112176677	+	Frame_Shift_Ins	INS	-	-	A													taagaaaaaatgcagactcaINSaaaaataatttaaatgctga							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr5:112176675_112176676C>CA	uc003kpz.4	+	16	5577_5578	c.5384_5385C>CA	c.(5383-5385)tcafs	p.S1795fs	APC_uc011cvt.2_Frame_Shift_Ins_p.S1777fs|APC_uc003kpy.4_Frame_Shift_Ins_p.S1795fs|APC_uc010jbz.3_Frame_Shift_Ins_p.S1512fs|APC_uc010jca.3_Frame_Shift_Ins_p.S1095fs	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1795	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.N1797fs*2(2)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AATGCAGACTCAAAAAATAATT	0.307		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			A	112176677	-	A	112176676	7	5	43	1	0	1	1	0	0	0	0	0	763	117	5	0	5443	0	APC	5	112176676	Frame_Shift_Ins	INS	-	TCGA-BR-6802-01A-11D-1882-08	15834824	112176676	68738584	177	35930											
AQPEP	206338	broad.mit.edu	37	chr5	115339034	115339034	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagagttaattatgataaatTaggttggaagaaactaaatc	8	2	0	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr5:115339034T>C	uc003kro.2	+	12	2158	c.1994T>C	c.(1993-1995)TTA>TCA	p.L665S	AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	665	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						TATGATAAATTAGGTTGGAAG	0.289													C	115339034	T	C	115339034	3	2	43	1	0	0	0	0	1	0	0	0	834	1764	61	3	2040	3	AQPEP	5	115339034	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	3162358	115339034	65576226	178	35931											
TCF7	6932	broad.mit.edu	37	chr5	133473765	133473765	+	Frame_Shift_Del	DEL	C	C	-													ttcagcacaaggccaatcagCccccccacggtgtcccccaa							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr5:133473764_133473764GC>G	uc003kyt.3	+	3	652	c.456_456GC>G	c.(454-456)cagfs	p.Q152fs	TCF7_uc003kyv.3_Frame_Shift_Del_p.Q37fs|TCF7_uc003kyw.3_Frame_Shift_Del_p.Q37fs|TCF7_uc003kyu.2_Frame_Shift_Del_p.Q37fs|TCF7_uc003kyy.3_Frame_Shift_Del_p.Q37fs|TCF7_uc003kyx.3_5'UTR|TCF7_uc003kyz.3_Frame_Shift_Del_p.Q37fs|TCF7_uc003kza.3_Frame_Shift_Del_p.Q37fs	NM_003202	NP_998813	P36402	TCF7_HUMAN	Homo sapiens transcription factor 7 (T-cell specific, HMG-box) (TCF7), transcript variant 1, mRNA.	152					Wnt receptor signaling pathway|cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCCAATCAGCCCCCCCACG	0.577													-	133473765	C	-	133473765	7	5	43	1	0	1	0	1	0	0	0	0	15693	739	26	0	471	0	TCF7	5	133473765	Frame_Shift_Del	DEL	C	TCGA-BR-6802-01A-11D-1882-08	18134731	133473765	47441495	179	35932											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139905707	139905707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgtggtgacaactcccaGcaccaatcggaaaaataaga	8	10	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr5:139905707G>A	uc003lfs.1	+	26	4743	c.4619G>A	c.(4618-4620)AGC>AAC	p.S1540N	ANKHD1_uc003lfr.2_Missense_Mutation_p.S1540N|ANKHD1_uc003lfu.1_Missense_Mutation_p.S1020N|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.S279N|ANKHD1_uc003lfw.2_Missense_Mutation_p.S178N|ANKHD1_uc010jfl.2_5'UTR|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1540						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACTCCCAGCACCAATCGG	0.413													A	139905707	G	A	139905707	3	1	43	1	0	0	0	0	1	0	0	0	629	971	34	2	4721	2	ANKHD1-EIF4EBP3	5	139905707	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	6431942	139905707	41009553	180	35933											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139909045	139909045	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttactttaacaccacctcaaGgcccaccagctgcagtgcag	7	15	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr5:139909045G>T	uc003lfs.1	+	29	6638	c.6514G>T	c.(6514-6516)GGC>TGC	p.G2172C	ANKHD1_uc003lfr.2_Missense_Mutation_p.G2172C|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.G911C|ANKHD1_uc003lfw.2_Missense_Mutation_p.G810C|ANKHD1_uc010jfl.2_Missense_Mutation_p.G607C|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.G309C	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2172						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCACCTCAAGGCCCACCAGC	0.443													T	139909045	G	T	139909045	3	4	43	1	0	0	0	0	1	0	0	0	629	1000	35	5	6628	5	ANKHD1-EIF4EBP3	5	139909045	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	3338	139909045	41006215	181	35934											
IK	3550	broad.mit.edu	37	chr5	140039372	140039372	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaaggagttgatcaagtcCatcaatgaaaagtttgctgg	10	7	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr5:140039372C>A	uc003lgq.2	+	14	1337	c.1227C>A	c.(1225-1227)TCC>TCA	p.S409S		NM_006083	NP_006074	Q13123	RED_HUMAN	RED protein	409					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATCAAGTCCATCAATGAAA	0.468													A	140039372	C	A	140039372	2	1	43	1	0	0	0	0	0	0	0	1	7608	581	21	5		5	IK	5	140039372	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	130327	140039372	40875888	182	35935											
PCDHB6	56130	broad.mit.edu	37	chr5	140531705	140531705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgcacaatggcgaggtgCgcaccgccaggctgctgagc	17	13	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr5:140531705C>T	uc003lir.2	+	1	1867	c.1867C>T	c.(1867-1869)CGC>TGC	p.R623C	PCDHB6_uc011dah.1_Missense_Mutation_p.R487C	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	623	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGAGGTGCGCACCGCCAG	0.687													T	140531705	C	T	140531705	3	4	43	1	0	0	0	0	1	0	0	0	11546	768	27	1	1869	1	PCDHB6	5	140531705	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	492333	140531705	40383555	183	35936											
FBXO38	81545	broad.mit.edu	37	chr5	147803681	147803681	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgatgaggaacaagcagGtaatcatgtgatccatccca	10	8	1	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr5:147803681G>A	uc003lpf.1	+	13	1858	c.1738_splice	c.e13+1	p.G580_splice	FBXO38_uc003lpg.1_Splice_Site_p.G580_splice|FBXO38_uc003lph.2_Splice_Site_p.G580_splice	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b							cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACAAGCAGGTAATCATGTG	0.448													A	147803681	G	A	147803681	5	1	43	1	0	0	0	0	0	0	1	0	5746	1275	44	4	1785	4	FBXO38	5	147803681	Splice_Site	SNP	G	TCGA-BR-6802-01A-11D-1882-08	7271976	147803681	33111579	184	35937											
FABP6	2172	broad.mit.edu	37	chr5	159659135	159659135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgtaatcgaaaaggcccGcaacttcaagatcgtcacgg	10	11	2	1	rs17856662		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr5:159659135G>A	uc003lya.1	+	2	226	c.98G>A	c.(97-99)CGC>CAC	p.R33H	FABP6_uc003lxx.1_Missense_Mutation_p.R82H|FABP6_uc003lxz.1_Missense_Mutation_p.R82H	NM_001445	NP_001436	P51161	FABP6_HUMAN	gastrotropin isoform 2	33					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAAAGGCCCGCAACTTCAAG	0.537													A	159659135	G	A	159659135	3	1	43	1	0	0	0	0	1	0	0	0	5361	1087	38	1	259	1	FABP6	5	159659135	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	11855454	159659135	21256125	185	35938											
GABRA6	2559	broad.mit.edu	37	chr5	161128599	161128599	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataaagtgctcacgagagcGcccatcttacaatcaacacc	6	13	3	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr5:161128599G>A	uc003lyu.2	+	9	1520	c.1182G>A	c.(1180-1182)GCG>GCA	p.A394A	GABRA6_uc003lyv.2_Silent_p.A165A	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	394	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCACGAGAGCGCCCATCTTAC	0.473										TCGA Ovarian(5;0.080)			A	161128599	G	A	161128599	2	1	43	1	0	0	0	0	0	0	0	1	6165	1074	38	1		1	GABRA6	5	161128599	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1469464	161128599	19786661	186	35939											
DOCK2	1794	broad.mit.edu	37	chr5	169174437	169174437	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacagatggagtttgaagaaTccatgagacggctctttgaa	11	6	1	5			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr5:169174437T>A	uc003maf.2	+	23	2385	c.2305T>A	c.(2305-2307)TCC>ACC	p.S769T	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.S261T	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	769					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTTGAAGAATCCATGAGACG	0.358													A	169174437	T	A	169174437	3	1	43	1	0	0	0	0	1	0	0	0	4687	1435	50	5	2395	5	DOCK2	5	169174437	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	8045838	169174437	11740823	187	35940											
UIMC1	51720	broad.mit.edu	37	chr5	176333041	176333041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtttctgaagacttgatGtctgcatctgtgatataaaa	8	7	3	4			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr5:176333041G>A	uc011dfp.1	-	14	2087	c.1920C>T	c.(1918-1920)GAC>GAT	p.D640D	UIMC1_uc003mfc.1_Silent_p.D517D|UIMC1_uc003mfd.1_Silent_p.D270D	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	640					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			ovary(3)|skin(1)	4	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGACTTGATGTCTGCATCTG	0.418													A	176333041	G	A	176333041	2	1	43	1	0	0	0	0	0	0	0	1	16968	1368	48	4		4	UIMC1	5	176333041	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	7158604	176333041	4582219	188	35941											
F13A1	2162	broad.mit.edu	37	chr6	6266932	6266932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagactggatggacagccGcacagacctgtcctctctca	11	13	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:6266932G>A	uc003mwv.2	-	4	553	c.430C>T	c.(430-432)CGG>TGG	p.R144W	F13A1_uc011dib.1_Missense_Mutation_p.R81W	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	144					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ATGGACAGCCGCACAGACCTG	0.512													A	6266932	G	A	6266932	3	1	43	1	0	0	0	0	1	0	0	0	5340	1086	38	1	1816	1	F13A1	6	6266932	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08		6266932	164848135	189	35942											
F13A1	2162	broad.mit.edu	37	chr6	6266965	6266965	+	Frame_Shift_Del	DEL	C	C	-													ctctctcatgacaatcttggCcccccactttccactttgta							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:6266964_6266964GC>G	uc003mwv.3	-	3	521	c.398_398GC>C	c.(397-399)gccfs	p.A133fs	F13A1_uc011dib.2_Frame_Shift_Del_p.A70fs	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	133					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.A133D(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GACAATCTTGGCCCCCCACTT	0.493													-	6266965	C	-	6266965	7	5	43	1	0	1	0	1	0	0	0	0	5340	739	26	0	1849	0	F13A1	6	6266965	Frame_Shift_Del	DEL	C	TCGA-BR-6802-01A-11D-1882-08	33	6266965	164848102	190	35943											
HIVEP1	3096	broad.mit.edu	37	chr6	12122709	12122709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccagagtgggcatccccGtacacttgtgagacaagcag	12	13	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:12122709G>A	uc003nac.2	+	4	2860	c.2681G>A	c.(2680-2682)CGT>CAT	p.R894H	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	894					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GGGCATCCCCGTACACTTGTG	0.478													A	12122709	G	A	12122709	3	1	43	1	0	0	0	0	1	0	0	0	7186	1145	40	1	2691	1	HIVEP1	6	12122709	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	5855744	12122709	158992358	191	35944											
GFOD1	54438	broad.mit.edu	37	chr6	13486905	13486905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatctgtctggtgaggggcGgcggcaggttaatgcacacc	16	10	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:13486905G>A	uc003nat.1	-	1	883	c.218C>T	c.(217-219)CCG>CTG	p.P73L	GFOD1_uc003nas.1_5'Flank|C6orf114_uc003nav.2_5'Flank	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain	73						extracellular region	binding|oxidoreductase activity			ovary(2)	2	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GGTGAGGGGCGGCGGCAGGTT	0.592													A	13486905	G	A	13486905	3	1	43	1	0	0	0	0	1	0	0	0	6343	1116	39	1	962	1	GFOD1	6	13486905	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1364196	13486905	157628162	192	35945											
HIST1H2BC	8347	broad.mit.edu	37	chr6	26123922	26123923	+	Frame_Shift_Del	DEL	AT	AT	-													ctcgcccgcgatgcgctcaaAtatgtcgttaacgaaagaat							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:26123921_26123922AAT>A	uc003ngk.4	-	0	233_234	c.211_212ATT>T	c.(211-213)tttfs	p.F71fs	HIST1H2BC_uc003ngl.3_Frame_Shift_Del_p.F71fs|HIST1H2AC_uc003ngm.3_5'Flank|HIST1H2AC_uc003ngo.3_5'Flank	NM_003526	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bc (HIST1H2BC), mRNA.	71					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						GATGCGCTCAAATATGTCGTTA	0.564													-	26123923	AT	-	26123922	7	5	43	1	0	1	0	1	0	0	0	0	7142	101	4	0	173	0	HIST1H2BC	6	26123922	Frame_Shift_Del	DEL	AT	TCGA-BR-6802-01A-11D-1882-08	12637017	26123922	144991145	193	35946											
HIST1H1D	3007	broad.mit.edu	37	chr6	26234932	26234932	+	Frame_Shift_Del	DEL	T	T	-													caagcttgatacggctgttgTttttttctacatcgtagcca							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:26234931_26234931GT>G	uc003nhd.3	-	0	286	c.231_231AC>C	c.(229-231)aacfs	p.N77fs		NM_005320	NP_005311	P16402	H13_HUMAN	Homo sapiens histone cluster 1, H1d (HIST1H1D), mRNA.	77	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TACGGCTGTTGTTTTTTTCTA	0.527													-	26234932	T	-	26234932	7	5	43	1	0	1	0	1	0	0	0	0	7125	1725	60	0	439	0	HIST1H1D	6	26234932	Frame_Shift_Del	DEL	T	TCGA-BR-6802-01A-11D-1882-08	111010	26234932	144880135	194	35947											
TRIM26	7726	broad.mit.edu	37	chr6	30166571	30166571	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagcttctctcggtgtcGctcgcacaactttgcatcct	9	14	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:30166571G>A	uc003npr.2	-	3	519	c.310C>T	c.(310-312)CGA>TGA	p.R104*	TRIM26_uc003nps.2_Nonsense_Mutation_p.R104*|TRIM26_uc010jry.2_5'UTR|TRIM26_uc003npt.2_Nonsense_Mutation_p.R104*|TRIM26_uc003npu.1_Nonsense_Mutation_p.R104*	NM_003449	NP_003440	Q12899	TRI26_HUMAN	tripartite motif-containing 26	104	B box-type.						DNA binding|zinc ion binding			ovary(2)|lung(1)	3						TCTCGGTGTCGCTCGCACAAC	0.642													A	30166571	G	A	30166571	4	1	43	1	0	0	0	0	0	1	0	0	16497	1095	38	1	1337	1	TRIM26	6	30166571	Nonsense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	3931639	30166571	140948496	195	35948											
MDC1	9656	broad.mit.edu	37	chr6	30670948	30670948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacaggaacttgactgtcCggcggatgcgatcagtgacc	12	12	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:30670948C>T	uc003nrg.3	-	12	6238	c.5798G>A	c.(5797-5799)CGG>CAG	p.R1933Q	MDC1_uc003nrf.3_Missense_Mutation_p.R564Q	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1933	BRCT 1.|Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						CTTGACTGTCCGGCGGATGCG	0.627								Other_conserved_DNA_damage_response_genes					T	30670948	C	T	30670948	3	4	43	1	0	0	0	0	1	0	0	0	9403	652	23	1	487	1	MDC1	6	30670948	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	504377	30670948	140444119	196	35949											
HLA-DRA	3122	broad.mit.edu	37	chr6	32410444	32410444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggaaatcatgacaaagcGctccaactatactccgatca	6	13	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:32410444G>A	uc003obh.2	+	2	383	c.302G>A	c.(301-303)CGC>CAC	p.R101H	HLA-DRA_uc003obi.2_Missense_Mutation_p.R101H	NM_019111	NP_061984	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR	101	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			ovary(1)|skin(1)	2						ATGACAAAGCGCTCCAACTAT	0.483									T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of				A	32410444	G	A	32410444	3	1	43	1	0	0	0	0	1	0	0	0	7207	1087	38	1	308	1	HLA-DRA	6	32410444	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1739496	32410444	138704623	197	35950											
HLA-DPB1	3115	broad.mit.edu	37	chr6	33052994	33052994	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccagcctggatagtcctgTcaccgtggagtggagtgagt	14	10	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:33052994T>C	uc003ocu.1	+	3	691	c.632T>C	c.(631-633)GTC>GCC	p.V211A	HLA-DPB1_uc011dqo.1_RNA|HLA-DPB1_uc011dqp.1_Missense_Mutation_p.V210A|HLA-DPB1_uc011dqq.1_Missense_Mutation_p.V107A	NM_002121	NP_002112	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP	211	Beta-2.|Ig-like C1-type.|Extracellular (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex				ovary(1)	1						GATAGTCCTGTCACCGTGGAG	0.567													C	33052994	T	C	33052994	3	2	43	1	0	0	0	0	1	0	0	0	7203	1667	58	3	642	3	HLA-DPB1	6	33052994	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	642550	33052994	138062073	198	35951											
ZBTB22	9278	broad.mit.edu	37	chr6	33283621	33283621	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagggtacggacatcacttAtgctgagggtagcctcaggc	13	10	3	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:33283621A>G	uc003oeb.2	-	2	1225	c.1073T>C	c.(1072-1074)ATA>ACA	p.I358T	TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Missense_Mutation_p.I358T	NM_005453	NP_005444	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GACATCACTTATGCTGAGGGT	0.567													G	33283621	A	G	33283621	3	3	43	1	0	0	0	0	1	0	0	0	17527	449	16	3	835	3	ZBTB22	6	33283621	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	230627	33283621	137831446	199	35952											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411173	33411173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcggccatggagggggCggtggccatggcccaccttc	17	14	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:33411173C>T	uc011dri.1	+	15	3039	c.2844C>T	c.(2842-2844)GGC>GGT	p.G948G	SYNGAP1_uc010juy.2_Silent_p.G919G|SYNGAP1_uc010juz.2_Silent_p.G660G	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	948					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						ATGGAGGGGGCGGTGGCCATG	0.557													T	33411173	C	T	33411173	2	4	43	1	0	0	0	0	0	0	0	1	15444	755	27	1		1	SYNGAP1	6	33411173	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	127552	33411173	137703894	200	35953											
ITPR3	3710	broad.mit.edu	37	chr6	33631536	33631536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcacagggccgcacaggcCgcaggaatgctggggagaag	19	10	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:33631536C>T	uc011drk.1	+	11	1246	c.1027C>T	c.(1027-1029)CGC>TGC	p.R343C		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	343	MIR 4.|Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CCGCACAGGCCGCAGGAATGC	0.592													T	33631536	C	T	33631536	3	4	43	1	0	0	0	0	1	0	0	0	7922	652	23	1	1069	1	ITPR3	6	33631536	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	220363	33631536	137483531	201	35954											
PPARD	5467	broad.mit.edu	37	chr6	35392202	35392202	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcctccctacaaggagatcAgcgtgcacgtcttctaccgc	9	15	3	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:35392202A>G	uc003okm.2	+	7	1033	c.724A>G	c.(724-726)AGC>GGC	p.S242G	PPARD_uc003okl.2_Missense_Mutation_p.S242G|PPARD_uc003okn.2_Missense_Mutation_p.S242G|PPARD_uc011dtb.1_Missense_Mutation_p.S203G|PPARD_uc011dtc.1_Missense_Mutation_p.S144G	NM_006238	NP_006229	Q03181	PPARD_HUMAN	peroxisome proliferative activated receptor,	242					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	CAAGGAGATCAGCGTGCACGT	0.587													G	35392202	A	G	35392202	3	3	43	1	0	0	0	0	1	0	0	0	12298	188	7	3	759	3	PPARD	6	35392202	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	1760666	35392202	135722865	202	35955											
FGD2	221472	broad.mit.edu	37	chr6	36982747	36982747	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agacccctctaacaccctgcTccgtgagggcccggtcctca	9	18	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:36982747T>A	uc010jwp.1	+	8	1133	c.962T>A	c.(961-963)CTC>CAC	p.L321H	FGD2_uc003ong.2_Missense_Mutation_p.L43H|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_Missense_Mutation_p.L127H	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	321	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			upper_aerodigestive_tract(1)|lung(1)|pancreas(1)	3						AACACCCTGCTCCGTGAGGGC	0.632													A	36982747	T	A	36982747	3	1	43	1	0	0	0	0	1	0	0	0	5833	1551	54	5	992	5	FGD2	6	36982747	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	1590545	36982747	134132320	203	35956											
DNAH8	1769	broad.mit.edu	37	chr6	38831685	38831697	+	Frame_Shift_Del	DEL	AGTTTAACAGAAT	AGTTTAACAGAAT	-													ttcctggggctgttttgatgAgtttaacagaattgaattgc							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:38831684_38831696GAGTTTAACAGAAT>G	uc021yzh.1	+	44	6455_6467	c.6346_6358GAGTTTAACAGAAT>G	c.(6346-6360)gagtttaacagaattfs	p.E2116fs	DNAH8_uc003ooe.2_Frame_Shift_Del_p.E1899fs	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTGTTTTGATGAGTTTAACAGAATTGAATTGCC	0.338													-	38831697	AGTTTAACAGAAT	-	38831685	7	5	43	1	0	1	0	1	0	0	0	0	4607	304	11	0	5858	0	DNAH8	6	38831685	Frame_Shift_Del	DEL	AGTTTAACAGAAT	TCGA-BR-6802-01A-11D-1882-08	1848938	38831685	132283382	204	35957											
TRERF1	55809	broad.mit.edu	37	chr6	42204045	42204045	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggacggggacgggtggtggCtccggggacttcggcacctc	19	11	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:42204045C>A	uc003osd.2	-	16	3527	c.2964G>T	c.(2962-2964)GAG>GAT	p.E988D	TRERF1_uc011duq.1_Missense_Mutation_p.E905D|TRERF1_uc003osb.2_Missense_Mutation_p.E744D|TRERF1_uc003osc.2_Missense_Mutation_p.E744D|TRERF1_uc003ose.2_Missense_Mutation_p.E1008D	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	988	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGGGTGGTGGCTCCGGGGACT	0.547													A	42204045	C	A	42204045	3	1	43	1	0	0	0	0	1	0	0	0	16472	796	28	5	650	5	TRERF1	6	42204045	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	3372360	42204045	128911022	205	35958											
KLHDC3	116138	broad.mit.edu	37	chr6	42985306	42985306	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagtctgccatccgtggGcaagctcctgtggtacccta	12	12	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:42985306G>A	uc003otl.2	+	3	373	c.204G>A	c.(202-204)GGG>GGA	p.G68G	KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Silent_p.G68G|KLHDC3_uc003otn.2_5'UTR|KLHDC3_uc003oto.2_Intron	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	68	Kelch 1.				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			upper_aerodigestive_tract(1)	1			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCATCCGTGGGCAAGCTCCTG	0.622													A	42985306	G	A	42985306	2	1	43	1	0	0	0	0	0	0	0	1	8357	1190	42	2		2	KLHDC3	6	42985306	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	781261	42985306	128129761	206	35959											
CLIC5	53405	broad.mit.edu	37	chr6	45917038	45917038	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaactcctcgatcttattgAcgtctgtcttcacgtccccg	8	14	4	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:45917038A>G	uc003oxv.3	-	3	837	c.731T>C	c.(730-732)GTC>GCC	p.V244A	CLIC5_uc003oxu.3_Missense_Mutation_p.V85A|CLIC5_uc003oxx.2_Missense_Mutation_p.V85A	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5 isoform a	244					female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			ovary(1)|skin(1)	2						GATCTTATTGACGTCTGTCTT	0.537													G	45917038	A	G	45917038	3	3	43	1	0	0	0	0	1	0	0	0	3529	275	10	3	517	3	CLIC5	6	45917038	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	2931732	45917038	125198029	207	35960											
ENPP4	22875	broad.mit.edu	37	chr6	46107942	46107942	+	Frame_Shift_Del	DEL	A	A	-													aaaacatgagcagagtgttgAaaaaaatagatgatcttatc							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:46107941_46107941GA>G	uc003oxy.3	+	1	880	c.621_621GA>G	c.(619-621)ttgfs	p.L207fs		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	207						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GCAGAGTGTTGAAAAAAATAG	0.403													-	46107942	A	-	46107942	7	5	43	1	0	1	0	1	0	0	0	0	5132	247	9	0	624	0	ENPP4	6	46107942	Frame_Shift_Del	DEL	A	TCGA-BR-6802-01A-11D-1882-08	190904	46107942	125007125	208	35961											
GPR116	221395	broad.mit.edu	37	chr6	46828548	46828548	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagaagagctgatttcAtgttccgctttgtctatgct	10	9	2	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:46828548A>G	uc003oyo.3	-	16	2572	c.2283T>C	c.(2281-2283)CAT>CAC	p.H761H	GPR116_uc011dwj.1_Silent_p.H316H|GPR116_uc011dwk.1_Silent_p.H190H|GPR116_uc003oyp.3_Silent_p.H619H|GPR116_uc003oyq.3_Silent_p.H761H|GPR116_uc010jzi.1_Silent_p.H433H	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	761	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			AGCTGATTTCATGTTCCGCTT	0.438													G	46828548	A	G	46828548	2	3	43	1	0	0	0	0	0	0	0	1	6633	214	8	3		3	GPR116	6	46828548	Silent	SNP	A	TCGA-BR-6802-01A-11D-1882-08	720606	46828548	124286519	209	35962											
GPR110	266977	broad.mit.edu	37	chr6	46977701	46977701	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatttttggaaacgggtagAatgttccccagagtcaacga	10	9	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:46977701A>C	uc003oyt.2	-	11	1669	c.1470T>G	c.(1468-1470)ATT>ATG	p.I490M	GPR110_uc011dwl.1_Missense_Mutation_p.I178M	NM_153840	NP_722582	Q5T601	GP110_HUMAN	G-protein coupled receptor 110 isoform 1	490	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|pancreas(1)	3						AAACGGGTAGAATGTTCCCCA	0.418													C	46977701	A	C	46977701	3	2	43	1	0	0	0	0	1	0	0	0	6627	242	9	5	1282	5	GPR110	6	46977701	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	149153	46977701	124137366	210	35963											
TINAG	27283	broad.mit.edu	37	chr6	54212228	54212228	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacggccaatctatcccctcAgaatttgatctcttgctgtg	7	13	3	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:54212228A>G	uc003pcj.2	+	6	958	c.812A>G	c.(811-813)CAG>CGG	p.Q271R	TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	271					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CTATCCCCTCAGAATTTGATC	0.433													G	54212228	A	G	54212228	3	3	43	1	0	0	0	0	1	0	0	0	15918	188	7	3	834	3	TINAG	6	54212228	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	7234527	54212228	116902839	211	35964											
DST	667	broad.mit.edu	37	chr6	56328469	56328469	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcgtgatgatggccgggatCttcggcctcggggtcggaaa	16	10	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:56328469C>A	uc003pdf.2	-	94	16452	c.16424G>T	c.(16423-16425)AGA>ATA	p.R5475I	DST_uc003pcz.3_Missense_Mutation_p.R5297I|DST_uc011dxj.1_Missense_Mutation_p.R5326I|DST_uc011dxk.1_Missense_Mutation_p.R5337I|DST_uc003pcy.3_Missense_Mutation_p.R4971I|DST_uc003pcv.3_Missense_Mutation_p.R93I|DST_uc003pcw.3_Missense_Mutation_p.R54I|DST_uc003pcx.3_Missense_Mutation_p.R54I	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	7407					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)			TGGCCGGGATCTTCGGCCTCG	0.592													A	56328469	C	A	56328469	3	1	43	1	0	0	0	0	1	0	0	0	4783	913	32	5	619	5	DST	6	56328469	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	2116241	56328469	114786598	212	35965											
IBTK	25998	broad.mit.edu	37	chr6	82936995	82936995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctttctgagacagaaacaCggagtgaaatttacaaagca	8	9	1	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:82936995C>T	uc003pjl.1	-	5	1095	c.568G>A	c.(568-570)GTG>ATG	p.V190M	IBTK_uc011dyv.1_Missense_Mutation_p.V190M|IBTK_uc011dyw.1_Missense_Mutation_p.V190M|IBTK_uc010kbi.1_Translation_Start_Site|IBTK_uc003pjm.2_Missense_Mutation_p.V190M	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	190	RCC1 1.				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GACAGAAACACGGAGTGAAAT	0.363													T	82936995	C	T	82936995	3	4	43	1	0	0	0	0	1	0	0	0	7476	536	19	1	3593	1	IBTK	6	82936995	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	26608526	82936995	88178072	213	35966											
ZNF292	23036	broad.mit.edu	37	chr6	87953265	87953265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagggtgatgaaaaaagcGctcttgttttatgtactgcg	12	6	1	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:87953265G>A	uc003plm.3	+	6	855	c.814G>A	c.(814-816)GCT>ACT	p.A272T		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGAAAAAAGCGCTCTTGTTTT	0.353													A	87953265	G	A	87953265	3	1	43	1	0	0	0	0	1	0	0	0	17823	1087	38	1	836	1	ZNF292	6	87953265	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	5016270	87953265	83161802	214	35967											
FUT9	10690	broad.mit.edu	37	chr6	96651800	96651800	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggattacatcacggaaaagCtatacaatgcttttctggct	8	8	2	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:96651800C>A	uc003pop.3	+	3	1110	c.769C>A	c.(769-771)CTA>ATA	p.L257I		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	257	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			skin(4)|ovary(1)	5		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CACGGAAAAGCTATACAATGC	0.343													A	96651800	C	A	96651800	3	1	43	1	0	0	0	0	1	0	0	0	6111	796	28	5	771	5	FUT9	6	96651800	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	8698535	96651800	74463267	215	35968											
PRDM13	59336	broad.mit.edu	37	chr6	100062155	100062155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcggggacgttgccaccGgccgtcgcggcggcgggagg	20	13	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:100062155G>A	uc003pqg.1	+	4	1905	c.1644G>A	c.(1642-1644)CCG>CCA	p.P548P		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CGTTGCCACcggccgtcgcgg	0.468													A	100062155	G	A	100062155	2	1	43	1	0	0	0	0	0	0	0	1	12454	1103	39	1		1	PRDM13	6	100062155	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	3410355	100062155	71052912	216	35969											
REV3L	5980	broad.mit.edu	37	chr6	111695299	111695299	+	Frame_Shift_Del	DEL	A	A	-													gctgactgtctttgcaatgcAaaaaattaggggtatatgct							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:111695298_111695298CA>C	uc003puy.4	-	12	4601	c.4260_4260TG>G	c.(4258-4260)ttgfs	p.L1420fs	REV3L_uc003pux.4_Frame_Shift_Del_p.L1342fs|REV3L_uc003puz.4_Frame_Shift_Del_p.L1342fs	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1420					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTTGCAATGCAAAAAATTAG	0.393								DNA polymerases (catalytic subunits)					-	111695299	A	-	111695299	7	5	43	1	0	1	0	1	0	0	0	0	13240	131	5	0	5213	0	REV3L	6	111695299	Frame_Shift_Del	DEL	A	TCGA-BR-6802-01A-11D-1882-08	11633144	111695299	59419768	217	35970											
RNF217	154214	broad.mit.edu	37	chr6	125366443	125366443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgttgtctataacttaacGcatgaagactccatcaagta	6	9	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:125366443G>A	uc003pzs.2	+	4	431	c.93G>A	c.(91-93)ACG>ACA	p.T31T	RNF217_uc003pzr.2_Silent_p.T88T|RNF217_uc003pzt.2_RNA	NM_152553	NP_689766	Q8TC41	RN217_HUMAN	ring finger protein 217	31					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		ATAACTTAACGCATGAAGACT	0.418													A	125366443	G	A	125366443	2	1	43	1	0	0	0	0	0	0	0	1	13481	1074	38	1		1	RNF217	6	125366443	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	13671144	125366443	45748624	218	35971											
KIAA1244	57221	broad.mit.edu	37	chr6	138618006	138618006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgttccgcctggggaatGccatgctgaggattgtgcgg	15	10	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:138618006G>A	uc003qhu.2	+	21	3562	c.3562G>A	c.(3562-3564)GCC>ACC	p.A1188T		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1188					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCTGGGGAATGCCATGCTGAG	0.562													A	138618006	G	A	138618006	3	1	43	1	0	0	0	0	1	0	0	0	8217	1319	46	2	3644	2	KIAA1244	6	138618006	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	13251563	138618006	32497061	219	35972											
HECA	51696	broad.mit.edu	37	chr6	139487653	139487653	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatgtggacaaagaagggCtacgacctggccttccgctt	11	11	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:139487653C>T	uc003qin.2	+	2	789	c.504C>T	c.(502-504)GGC>GGT	p.G168G		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	168					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CAAAGAAGGGCTACGACCTGG	0.587													T	139487653	C	T	139487653	2	4	43	1	0	0	0	0	0	0	0	1	7038	784	28	2		2	HECA	6	139487653	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	869647	139487653	31627414	220	35973											
HECA	51696	broad.mit.edu	37	chr6	139487805	139487805	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggcctcctggtgaggcggCggaggaggcaaaaaagtgca	18	8	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:139487805C>A	uc003qin.2	+	2	941	c.656C>A	c.(655-657)GCG>GAG	p.A219E		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	219					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GGTGAGGCGGCGGAGGAGGCA	0.592													A	139487805	C	A	139487805	3	1	43	1	0	0	0	0	1	0	0	0	7038	768	27	5	662	5	HECA	6	139487805	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	152	139487805	31627262	221	35974											
UTRN	7402	broad.mit.edu	37	chr6	144812155	144812155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggactgcaagcgtgtgctgGatggcgtgaaagcagaactt	15	7	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:144812155G>A	uc003qkt.2	+	31	4446	c.4354G>A	c.(4354-4356)GAT>AAT	p.D1452N		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1452	Spectrin 10.|Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCGTGTGCTGGATGGCGTGAA	0.527													A	144812155	G	A	144812155	3	1	43	1	0	0	0	0	1	0	0	0	17100	1174	41	4	4476	4	UTRN	6	144812155	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	5324350	144812155	26302912	222	35975											
SNX9	51429	broad.mit.edu	37	chr6	158349643	158349643	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccacagagagcagaagtgCgaggctgtggggaagttcac	15	9	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:158349643C>T	uc003qqv.1	+	12	1370	c.1197C>T	c.(1195-1197)TGC>TGT	p.C399C		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	399	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AGCAGAAGTGCGAGGCTGTGG	0.587													T	158349643	C	T	158349643	2	4	43	1	0	0	0	0	0	0	0	1	14909	776	27	1		1	SNX9	6	158349643	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	13537488	158349643	12765424	223	35976											
SLC22A1	6580	broad.mit.edu	37	chr6	160543054	160543054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcttatgcctgctgtcGgctgcctttgcgcccatctg	9	15	3	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:160543054G>A	uc003qtc.2	+	1	192	c.87G>A	c.(85-87)TCG>TCA	p.S29S	SLC22A1_uc003qtd.2_Silent_p.S29S	NM_003057	NP_003048	O15245	S22A1_HUMAN	solute carrier family 22 member 1 isoform a	29	Helical; (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding				0		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GCCTGCTGTCGGCTGCCTTTG	0.597													A	160543054	G	A	160543054	2	1	43	1	0	0	0	0	0	0	0	1	14440	1103	39	1		1	SLC22A1	6	160543054	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	2193411	160543054	10572013	224	35977											
RPS6KA2	6196	broad.mit.edu	37	chr6	166844007	166844007	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtcactggcttcgcgctcCgagaagtatctctgccggag	12	13	2	1	rs140163975		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:166844007C>T	uc003qvb.1	-	16	1734	c.1515G>A	c.(1513-1515)TCG>TCA	p.S505S	RPS6KA2_uc011ego.1_Silent_p.S416S|RPS6KA2_uc010kkl.1_Silent_p.S416S|RPS6KA2_uc003qvc.1_Silent_p.S513S|RPS6KA2_uc003qvd.1_Silent_p.S530S	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	505	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CTTCGCGCTCCGAGAAGTATC	0.602													T	166844007	C	T	166844007	2	4	43	1	0	0	0	0	0	0	0	1	13651	639	23	1		1	RPS6KA2	6	166844007	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	6300953	166844007	4271060	225	35978											
MLLT4	4301	broad.mit.edu	37	chr6	168281130	168281130	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacagatcctgcagactttgCtgtggctgaagctttagaga	11	8	0	4			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr6:168281130C>A	uc003qwd.2	+	6	969	c.827C>A	c.(826-828)GCT>GAT	p.A276D	MLLT4_uc003qwb.1_Missense_Mutation_p.A276D|MLLT4_uc003qwc.1_Missense_Mutation_p.A277D|MLLT4_uc003qwf.2_Translation_Start_Site	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	277	Ras-associating 2.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GCAGACTTTGCTGTGGCTGAA	0.393			T	MLL	AL								A	168281130	C	A	168281130	3	1	43	1	0	0	0	0	1	0	0	0	9629	797	28	5	852	5	MLLT4	6	168281130	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1437123	168281130	2833937	226	35979											
PAPOLB	56903	broad.mit.edu	37	chr7	4900547	4900547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcttgggtcccatacagGcaaattaagattccgttctt	7	10	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:4900547G>A	uc003snk.2	-	1	1079	c.895C>T	c.(895-897)CCT>TCT	p.P299S	RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	298					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TCCCATACAGGCAAATTAAGA	0.443													A	4900547	G	A	4900547	3	1	43	1	0	0	0	0	1	0	0	0	11430	1203	42	2	1022	2	PAPOLB	7	4900547	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08		4900547	154238116	227	35980											
RNF216	54476	broad.mit.edu	37	chr7	5752387	5752387	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccgcaacctcctcctcGgcttttcgctcatagtactt	7	16	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:5752387G>A	uc003soy.1	-	12	1960	c.1770C>T	c.(1768-1770)GCC>GCT	p.A590A	RNF216_uc010ksz.1_Silent_p.A212A|RNF216_uc010kta.1_Silent_p.A212A|RNF216_uc011jwj.1_Silent_p.A212A|RNF216_uc003sox.1_Silent_p.A647A	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	590	IBR-type.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CCTCCTCCTCGGCTTTTCGCT	0.562													A	5752387	G	A	5752387	2	1	43	1	0	0	0	0	0	0	0	1	13480	1103	39	1		1	RNF216	7	5752387	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	851840	5752387	153386276	228	35981											
AIMP2	7965	broad.mit.edu	37	chr7	6057478	6057478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaagacatcgtgatcaacGcaaacccggcctcccctccc	7	17	1	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:6057478G>A	uc003spo.2	+	3	489	c.376G>A	c.(376-378)GCA>ACA	p.A126T		NM_006303	NP_006294	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting	126	Interaction with PARK2.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			ovary(1)	1						CGTGATCAACGCAAACCCGGC	0.532													A	6057478	G	A	6057478	3	1	43	1	0	0	0	0	1	0	0	0	434	1087	38	1	386	1	AIMP2	7	6057478	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	305091	6057478	153081185	229	35982											
MACC1	346389	broad.mit.edu	37	chr7	20201455	20201455	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actttgtgcaattcttcctgAccgaaaatgttttctttcag	6	9	3	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:20201455A>G	uc003sus.3	-	4	340	c.31T>C	c.(31-33)TCA>CCA	p.S11P	MACC1_uc010kug.2_Missense_Mutation_p.S11P	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	11					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3						ATTCTTCCTGACCGAAAATGT	0.323													G	20201455	A	G	20201455	3	3	43	1	0	0	0	0	1	0	0	0	9143	275	10	3	2543	3	MACC1	7	20201455	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	14143977	20201455	138937208	230	35983											
HNRNPA2B1	3181	broad.mit.edu	37	chr7	26236526	26236527	+	Frame_Shift_Ins	INS	-	-	T													attatctcaatggtatcaatINSttttccatattcctcaaagt							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:26236525_26236526A>AT	uc003sxr.4	-	4	628_629	c.412_413T>AT	c.(412-414)attfs	p.I138fs	HNRNPA2B1_uc003sxs.4_Frame_Shift_Ins_p.I126fs	NM_031243	NP_112533	P22626	ROA2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A2/B1 (HNRNPA2B1), transcript variant B1, mRNA.	138	RRM 2.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	RNA binding|nucleotide binding|protein binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						AATGGTATCAATTTTTCCATAT	0.381			T	ETV1	prostate								T	26236527	-	T	26236526	7	5	43	1	0	1	1	0	0	0	0	0	7259	1493	52	0	677	0	HNRNPA2B1	7	26236526	Frame_Shift_Ins	INS	-	TCGA-BR-6802-01A-11D-1882-08	6035071	26236526	132902137	231	35984											
FIGNL1	63979	broad.mit.edu	37	chr7	50514060	50514060	+	Frame_Shift_Del	DEL	T	T	-													cacgctgaggttggtggtacTttttttgctgatctacccat							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:50514059_50514059CT>C	uc003tpd.3	-	3	1297	c.927_927AG>G	c.(925-927)aagfs	p.K309fs	FIGNL1_uc003tpb.3_Frame_Shift_Del_p.K198fs|FIGNL1_uc003tpc.3_Frame_Shift_Del_p.K309fs|FIGNL1_uc003tpe.3_Frame_Shift_Del_p.K309fs|FIGNL1_uc010kyy.3_Frame_Shift_Del_p.K309fs|FIGNL1_uc022ada.1_Frame_Shift_Del_p.K309fs	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	309					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				GTTGGTGGTACTTTTTTTGCT	0.428													-	50514060	T	-	50514060	7	5	43	1	0	1	0	1	0	0	0	0	5892	1609	56	0	1102	0	FIGNL1	7	50514060	Frame_Shift_Del	DEL	T	TCGA-BR-6802-01A-11D-1882-08	24277534	50514060	108624603	232	35985											
COL1A2	1278	broad.mit.edu	37	chr7	94056959	94056959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccccctggtccccctggCcctcctggacctccaggtgt	11	20	0	0	rs149097024		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:94056959C>T	uc003ung.1	+	49	3759	c.3288C>T	c.(3286-3288)GGC>GGT	p.G1096G	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1096			Missing (in OI4).|G -> A (in OI3).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTCCCCCTGGCCCTCCTGGAC	0.532										HNSCC(75;0.22)			T	94056959	C	T	94056959	2	4	43	1	0	0	0	0	0	0	0	1	3678	726	26	2		2	COL1A2	7	94056959	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	43542899	94056959	65081704	233	35986											
PTCD1	26024	broad.mit.edu	37	chr7	99017660	99017660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccccctggggcttggtcCggaacttctgccaggggtgc	16	13	1	0	rs150466149		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:99017660C>T	uc003uqh.2	-	8	2164	c.2033G>A	c.(2032-2034)CGG>CAG	p.R678Q	PTCD1_uc011kiw.1_Missense_Mutation_p.R727Q	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	678										ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GGGCTTGGTCCGGAACTTCTG	0.612													T	99017660	C	T	99017660	3	4	43	1	0	0	0	0	1	0	0	0	12727	652	23	1	73	1	PTCD1	7	99017660	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	4960701	99017660	60121003	234	35987											
MUC17	140453	broad.mit.edu	37	chr7	100682329	100682329	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcctgttgactccaacagTcctgtggtcacttctactga	7	13	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:100682329T>C	uc003uxp.1	+	3	7685	c.7632T>C	c.(7630-7632)AGT>AGC	p.S2544S	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2544	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|41.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTCCAACAGTCCTGTGGTCA	0.473													C	100682329	T	C	100682329	2	2	43	1	0	0	0	0	0	0	0	1	9974	1664	58	3		3	MUC17	7	100682329	Silent	SNP	T	TCGA-BR-6802-01A-11D-1882-08	1664669	100682329	58456334	235	35988											
DNAJC2	27000	broad.mit.edu	37	chr7	102953432	102953432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccttctttgtcctgccagGcaccgcttctgctatttttt	7	13	2	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:102953432G>A	uc003vbo.2	-	16	2004	c.1753C>T	c.(1753-1755)CCT>TCT	p.P585S	PMPCB_uc003vbl.2_3'UTR|PMPCB_uc003vbm.2_3'UTR|PMPCB_uc010liv.2_3'UTR|PMPCB_uc010liw.2_3'UTR|PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_Missense_Mutation_p.P210S|DNAJC2_uc010lix.2_Missense_Mutation_p.P532S|DNAJC2_uc003vbp.2_Missense_Mutation_p.P210S	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	585	SANT 2.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			kidney(1)	1						GTCCTGCCAGGCACCGCTTCT	0.408													A	102953432	G	A	102953432	3	1	43	1	0	0	0	0	1	0	0	0	4639	1203	42	2	120	2	DNAJC2	7	102953432	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	2271103	102953432	56185231	236	35989											
LAMB1	3912	broad.mit.edu	37	chr7	107577640	107577640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagaatccagttctttggCtgtgctgttgctttgggaag	13	6	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:107577640C>T	uc003vew.2	-	26	4179	c.3844G>A	c.(3844-3846)GCC>ACC	p.A1282T	LAMB1_uc003vev.2_Missense_Mutation_p.A1306T	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	1282	Potential.|Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTTCTTTGGCTGTGCTGTTG	0.378													T	107577640	C	T	107577640	3	4	43	1	0	0	0	0	1	0	0	0	8610	797	28	2	1552	2	LAMB1	7	107577640	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	4624208	107577640	51561023	237	35990											
TMEM168	64418	broad.mit.edu	37	chr7	112423832	112423832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaatcaagcaaaaatggCgcatccctttggatgccatg	9	10	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:112423832C>T	uc003vgn.2	-	2	1441	c.1049G>A	c.(1048-1050)CGC>CAC	p.R350H	TMEM168_uc010lju.2_Missense_Mutation_p.R350H|TMEM168_uc011kmr.1_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	transmembrane protein 168	350						integral to membrane|transport vesicle				ovary(1)|central_nervous_system(1)	2						GCAAAAATGGCGCATCCCTTT	0.408													T	112423832	C	T	112423832	3	4	43	1	0	0	0	0	1	0	0	0	16080	768	27	1	1060	1	TMEM168	7	112423832	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	4846192	112423832	46714831	238	35991											
SPAM1	6677	broad.mit.edu	37	chr7	123593630	123593630	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcattactctttacaatgggAgtgctaaaattcaagcacat	6	8	3	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:123593630A>T	uc003vld.2	+	4	408	c.6A>T	c.(4-6)GGA>GGT	p.G2G	SPAM1_uc003vle.2_Silent_p.G2G|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Silent_p.G2G|SPAM1_uc010lku.2_Silent_p.G2G	NM_153189	NP_694859	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 2	2					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)	TTACAATGGGAGTGCTAAAAT	0.363													T	123593630	A	T	123593630	2	4	43	1	0	0	0	0	0	0	0	1	14986	291	11	5		5	SPAM1	7	123593630	Silent	SNP	A	TCGA-BR-6802-01A-11D-1882-08	11169798	123593630	35545033	239	35992											
PLXNA4	91584	broad.mit.edu	37	chr7	131866253	131866253	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgttgaggatgagcagggActggacgttgtccaggatga	16	6	0	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:131866253A>G	uc003vra.3	-	18	3608	c.3379T>C	c.(3379-3381)TCC>CCC	p.S1127P		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1127	Extracellular (Potential).|IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						ATGAGCAGGGACTGGACGTTG	0.602													G	131866253	A	G	131866253	3	3	43	1	0	0	0	0	1	0	0	0	12122	275	10	3	2365	3	PLXNA4	7	131866253	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	8272623	131866253	27272410	240	35993											
BPGM	669	broad.mit.edu	37	chr7	134346677	134346677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaagaaatctacaacgacCggaggtataaagtatgcgat	9	8	1	1	rs141221644	by1000genomes	TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:134346677C>T	uc003vrv.2	+	3	959	c.418C>T	c.(418-420)CGG>TGG	p.R140W	BPGM_uc003vrw.2_Missense_Mutation_p.R140W|BPGM_uc003vrx.2_Missense_Mutation_p.R140W	NM_199186	NP_954655	P07738	PMGE_HUMAN	bisphosphoglycerate mutase	140					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity				0						CTACAACGACCGGAGGTATAA	0.473													T	134346677	C	T	134346677	3	4	43	1	0	0	0	0	1	0	0	0	1488	643	23	1	420	1	BPGM	7	134346677	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	2480424	134346677	24791986	241	35994											
CNOT4	4850	broad.mit.edu	37	chr7	135079001	135079001	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttctgaagagatgtgggCgaaagggaaggttggtcttg	18	3	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:135079001C>T	uc003vsv.1	-	10	1603	c.1296G>A	c.(1294-1296)TCG>TCA	p.S432S	CNOT4_uc003vss.2_Silent_p.S429S|CNOT4_uc011kpz.1_Silent_p.S429S|CNOT4_uc003vst.2_Silent_p.S432S|CNOT4_uc003vsu.1_Silent_p.S429S|CNOT4_uc011kpy.1_Silent_p.S432S	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	432					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding				0						GAGATGTGGGCGAAAGGGAAG	0.498													T	135079001	C	T	135079001	2	4	43	1	0	0	0	0	0	0	0	1	3621	755	27	1		1	CNOT4	7	135079001	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	732324	135079001	24059662	242	35995											
SVOPL	136306	broad.mit.edu	37	chr7	138312915	138312915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacttacaagcaatttcacCgatggtgctgatgatcatgg	9	9	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:138312915C>T	uc011kqh.1	-	10	1057	c.1057G>A	c.(1057-1059)GGT>AGT	p.G353S	SVOPL_uc003vue.2_Missense_Mutation_p.G201S	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	SVOP-like isoform 1	353	Helical; (Potential).					integral to membrane	transmembrane transporter activity				0						GCAATTTCACCGATGGTGCTG	0.552													T	138312915	C	T	138312915	3	4	43	1	0	0	0	0	1	0	0	0	15421	652	23	1	445	1	SVOPL	7	138312915	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	3233914	138312915	20825748	243	35996											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138437555	138437555	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcctgcagcaggcgctGgcggtgagactctgtttgtg	16	10	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:138437555G>A	uc003vuf.2	-	10	1082	c.844C>T	c.(844-846)CAG>TAG	p.Q282*	ATP6V0A4_uc003vug.2_Nonsense_Mutation_p.Q282*|ATP6V0A4_uc003vuh.2_Nonsense_Mutation_p.Q282*	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	282	Cytoplasmic (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1						AGCAGGCGCTGGCGGTGAGAC	0.488													A	138437555	G	A	138437555	4	1	43	1	0	0	0	0	0	1	0	0	1170	1357	47	4	1726	4	ATP6V0A4	7	138437555	Nonsense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	124640	138437555	20701108	244	35997											
TTC26	79989	broad.mit.edu	37	chr7	138833067	138833067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattcctgatagtaccatcGcactcaatcttaaagcctgt	5	11	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:138833067G>A	uc003vus.2	+	7	775	c.661G>A	c.(661-663)GCA>ACA	p.A221T	TTC26_uc003vuq.2_Missense_Mutation_p.A221T|TTC26_uc011kqm.1_Intron|TTC26_uc003vur.3_Missense_Mutation_p.A221T|TTC26_uc011kqn.1_Missense_Mutation_p.A221T|TTC26_uc011kqo.1_Missense_Mutation_p.A190T|TTC26_uc011kqp.1_Missense_Mutation_p.A116T|TTC26_uc003vut.2_Missense_Mutation_p.A81T|TTC26_uc011kqq.1_Intron	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26 isoform 1	221							binding			ovary(1)	1						TAGTACCATCGCACTCAATCT	0.388													A	138833067	G	A	138833067	3	1	43	1	0	0	0	0	1	0	0	0	16691	1087	38	1	687	1	TTC26	7	138833067	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	395512	138833067	20305596	245	35998											
EPHB6	2051	broad.mit.edu	37	chr7	142566336	142566336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccctgtgggccgggggcGccgaaagcctgcagatgacc	17	13	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:142566336G>A	uc011kst.1	+	15	2912	c.2125G>A	c.(2125-2127)GCC>ACC	p.A709T	EPHB6_uc011ksu.1_Missense_Mutation_p.A709T|EPHB6_uc003wbs.2_Missense_Mutation_p.A417T|EPHB6_uc003wbt.2_Missense_Mutation_p.A183T|EPHB6_uc003wbu.2_Missense_Mutation_p.A417T|EPHB6_uc003wbv.2_Missense_Mutation_p.A93T	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	709	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					GGCCGGGGGCGCCGAAAGCCT	0.677													A	142566336	G	A	142566336	3	1	43	1	0	0	0	0	1	0	0	0	5178	1087	38	1	2167	1	EPHB6	7	142566336	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	3733269	142566336	16572327	246	35999											
ZNF425	155054	broad.mit.edu	37	chr7	148802270	148802270	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcgtccgcctgagttcGgacttccctctggacgagtt	11	14	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:148802270G>T	uc003wfj.2	-	4	766	c.693C>A	c.(691-693)TCC>TCA	p.S231S		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	231					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCCTGAGTTCGGACTTCCCTC	0.532													T	148802270	G	T	148802270	2	4	43	1	0	0	0	0	0	0	0	1	17896	1103	39	5		5	ZNF425	7	148802270	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	6235934	148802270	10336393	247	36000											
KRBA1	84626	broad.mit.edu	37	chr7	149416733	149416733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttctaccgagacgtgatgCgggagaactacgagacgctg	14	9	1	4			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:149416733C>T	uc003wfz.2	+	2	403	c.4C>T	c.(4-6)CGG>TGG	p.R2W	KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_5'Flank	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	KRAB A domain containing 1	2										ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGACGTGATGCGGGAGAACTA	0.652													T	149416733	C	T	149416733	3	4	43	1	0	0	0	0	1	0	0	0	8439	759	27	1	6	1	KRBA1	7	149416733	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	614463	149416733	9721930	248	36001											
ZNF862	643641	broad.mit.edu	37	chr7	149547305	149547305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtgtttgaggagctgcCggtggtgttcgaggatgtgg	20	4	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:149547305C>T	uc010lpn.2	+	5	1187	c.995C>T	c.(994-996)CCG>CTG	p.P332L	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						GAGGAGCTGCCGGTGGTGTTC	0.607													T	149547305	C	T	149547305	3	4	43	1	0	0	0	0	1	0	0	0	18192	652	23	1	1013	1	ZNF862	7	149547305	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	130572	149547305	9591358	249	36002											
RNF32	140545	broad.mit.edu	37	chr7	156468498	156468498	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgaagtgttcttcagcagTtggaagaaaaatgtggccat	11	6	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:156468498T>C	uc003wmo.2	+	8	975	c.793T>C	c.(793-795)TTG>CTG	p.L265L	RNF32_uc010lqm.2_Silent_p.L265L|RNF32_uc003wmq.2_Silent_p.L265L|RNF32_uc003wmr.2_Silent_p.L265L|RNF32_uc003wmu.2_RNA	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	ring finger protein 32	265						aggresome|endosome	protein binding|zinc ion binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TCTTCAGCAGTTGGAAGAAAA	0.483													C	156468498	T	C	156468498	2	2	43	1	0	0	0	0	0	0	0	1	13488	1722	60	3		3	RNF32	7	156468498	Silent	SNP	T	TCGA-BR-6802-01A-11D-1882-08	6921193	156468498	2670165	250	36003											
ESYT2	57488	broad.mit.edu	37	chr7	158560362	158560362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctttggtacaggaaaccGcaactgagctatttgaactt	8	9	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr7:158560362G>A	uc003wob.1	-	8	1117	c.1051C>T	c.(1051-1053)CGG>TGG	p.R351W	ESYT2_uc003woc.1_Missense_Mutation_p.R175W|ESYT2_uc003wod.1_Missense_Mutation_p.R351W	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain	379	C2 1.					integral to membrane|plasma membrane				central_nervous_system(2)|kidney(1)	3						ACAGGAAACCGCAACTGAGCT	0.448													A	158560362	G	A	158560362	3	1	43	1	0	0	0	0	1	0	0	0	5265	1086	38	1	1690	1	ESYT2	7	158560362	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	2091864	158560362	578301	251	36004											
MYOM2	9172	broad.mit.edu	37	chr8	2092718	2092718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaagtacgtcagcatgaCcatcaaaggcgtgacctccg	11	13	2	2	rs147501499	byFrequency	TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:2092718C>T	uc003wpx.3	+	37	4349	c.4211C>T	c.(4210-4212)ACC>ATC	p.T1404I	MYOM2_uc011kwi.1_Missense_Mutation_p.T829I	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	1404	Ig-like C2-type 5.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTCAGCATGACCATCAAAGGC	0.532													T	2092718	C	T	2092718	3	4	43	1	0	0	0	0	1	0	0	0	10092	507	18	4	4353	4	MYOM2	8	2092718	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08		2092718	144271304	252	36005											
CSMD1	64478	broad.mit.edu	37	chr8	3087599	3087599	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggttgccaaaagaaccgGttattcagctgcacacaggt	10	10	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:3087599G>A	uc011kwk.1	-	27	4701	c.4311C>T	c.(4309-4311)AAC>AAT	p.N1437N	CSMD1_uc011kwj.1_Silent_p.N829N|CSMD1_uc003wqe.2_Silent_p.N593N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1437	Extracellular (Potential).|Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAAAGAACCGGTTATTCAGCT	0.463													A	3087599	G	A	3087599	2	1	43	1	0	0	0	0	0	0	0	1	3944	1252	44	4		4	CSMD1	8	3087599	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	994881	3087599	143276423	253	36006											
TUSC3	7991	broad.mit.edu	37	chr8	15519705	15519705	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caactactctggtaccattgCtttggccctgttagtgtcgc	9	12	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:15519705C>A	uc003wwt.2	+	5	818	c.608C>A	c.(607-609)GCT>GAT	p.A203D	TUSC3_uc003wwr.2_Missense_Mutation_p.A203D|TUSC3_uc003wws.2_Missense_Mutation_p.A203D|TUSC3_uc003wwu.2_Missense_Mutation_p.A203D|TUSC3_uc003wwv.2_Missense_Mutation_p.A203D|TUSC3_uc003www.2_Missense_Mutation_p.A203D|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.A203D	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	203	Helical; (Potential).				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		GGTACCATTGCTTTGGCCCTG	0.383													A	15519705	C	A	15519705	3	1	43	1	0	0	0	0	1	0	0	0	16775	797	28	5	626	5	TUSC3	8	15519705	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	12432106	15519705	130844317	254	36007											
ATP6V1B2	526	broad.mit.edu	37	chr8	20075767	20075767	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacttggaatttctgcagaAgtttgagaggaacttcattg	10	6	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:20075767A>C	uc003wzp.2	+	13	1584	c.1370A>C	c.(1369-1371)AAG>ACG	p.K457T	ATP6V1B2_uc003wzq.1_5'Flank	NM_001693	NP_001684	P21281	VATB2_HUMAN	vacuolar H+ATPase B2	457					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		TTTCTGCAGAAGTTTGAGAGG	0.413													C	20075767	A	C	20075767	3	2	43	1	0	0	0	0	1	0	0	0	1179	72	3	5	1420	5	ATP6V1B2	8	20075767	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	4556062	20075767	126288255	255	36008											
DOK2	9046	broad.mit.edu	37	chr8	21767139	21767139	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagttcttccccaaggaacGggccaccgcatcgaagggca	12	13	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:21767139G>T	uc003wzy.1	-	5	1015	c.922C>A	c.(922-924)CGT>AGT	p.R308S	DOK2_uc003wzx.1_Missense_Mutation_p.R308S|DOK2_uc003wzz.1_Missense_Mutation_p.R154S|DOK2_uc010lth.1_Missense_Mutation_p.R154S	NM_003974	NP_003965	O60496	DOK2_HUMAN	docking protein 2	308					blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding				0				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CCCAAGGAACGGGCCACCGCA	0.667													T	21767139	G	T	21767139	3	4	43	1	0	0	0	0	1	0	0	0	4697	1116	39	5	320	5	DOK2	8	21767139	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1691372	21767139	124596883	256	36009											
LOXL2	4017	broad.mit.edu	37	chr8	23167240	23167240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggccggaagtcggactgGccattgttgtggatctggga	17	7	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:23167240G>A	uc003xdh.1	-	10	2160	c.1821C>T	c.(1819-1821)GGC>GGT	p.G607G	LOXL2_uc010lty.1_Silent_p.G146G	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	607	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AGTCGGACTGGCCATTGTTGT	0.682													A	23167240	G	A	23167240	2	1	43	1	0	0	0	0	0	0	0	1	8900	1190	42	2		2	LOXL2	8	23167240	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1400101	23167240	123196782	257	36010											
DPYSL2	1808	broad.mit.edu	37	chr8	26492331	26492331	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaatcgtgccatcaccatCgccaaccagaccaactgccc	7	17	1	2	rs35621323	byFrequency	TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:26492331C>T	uc003xfb.1	+	8	1076	c.726C>T	c.(724-726)ATC>ATT	p.I242I	DPYSL2_uc003xfa.2_Silent_p.I347I|DPYSL2_uc011lag.1_Silent_p.I242I|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Silent_p.I206I	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	242					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			large_intestine(1)	1		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CCATCACCATCGCCAACCAGA	0.582													T	26492331	C	T	26492331	2	4	43	1	0	0	0	0	0	0	0	1	4747	874	31	1		1	DPYSL2	8	26492331	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	3325091	26492331	119871691	258	36011											
RNF122	79845	broad.mit.edu	37	chr8	33416240	33416240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggaaactgatgggtggCatcgagcaggacttgttggt	15	7	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:33416240C>T	uc003xjo.1	-	2	477	c.75G>A	c.(73-75)ATG>ATA	p.M25I		NM_024787	NP_079063	Q9H9V4	RN122_HUMAN	ring finger protein 122	25						endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		TGATGGGTGGCATCGAGCAGG	0.478													T	33416240	C	T	33416240	3	4	43	1	0	0	0	0	1	0	0	0	13432	710	25	2	412	2	RNF122	8	33416240	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	6923909	33416240	112947782	259	36012											
TACC1	6867	broad.mit.edu	37	chr8	38699879	38699879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagaaggaacaggccctgGctgaccttaactctgtggaa	13	9	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:38699879G>A	uc010lwp.2	+	10	2414	c.2035G>A	c.(2035-2037)GCT>ACT	p.A679T	TACC1_uc003xma.2_Missense_Mutation_p.A117T|TACC1_uc003xlz.2_Missense_Mutation_p.A484T|TACC1_uc003xmc.3_Missense_Mutation_p.A483T|TACC1_uc011lbz.1_Missense_Mutation_p.A666T|TACC1_uc003xmb.3_Missense_Mutation_p.A605T|TACC1_uc003xmf.3_Missense_Mutation_p.A269T|TACC1_uc011lca.1_Missense_Mutation_p.A662T|TACC1_uc011lcb.1_Missense_Mutation_p.A455T|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Missense_Mutation_p.A496T|TACC1_uc010lwq.2_Missense_Mutation_p.A495T	NM_006283	NP_006274	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing	679					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			ovary(1)	1		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			ACAGGCCCTGGCTGACCTTAA	0.453													A	38699879	G	A	38699879	3	1	43	1	0	0	0	0	1	0	0	0	15498	1203	42	2	2073	2	TACC1	8	38699879	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	5283639	38699879	107664143	260	36013											
C8orf40	114926	broad.mit.edu	37	chr8	42407698	42407698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgaatagcaagaaagtacGactatcagcagccacaaaac	8	9	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:42407698G>A	uc011lcv.1	+	4	320	c.271G>A	c.(271-273)GAC>AAC	p.D91N	C8orf40_uc003xph.2_Missense_Mutation_p.D91N|C8orf40_uc003xpg.2_Missense_Mutation_p.D91N|C8orf40_uc010lxo.2_Missense_Mutation_p.D91N	NM_001135676	NP_001129148	Q96E16	CH040_HUMAN	hypothetical protein LOC114926	91						cytoplasm|integral to membrane|nucleolus					0	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AAGAAAGTACGACTATCAGCA	0.338													A	42407698	G	A	42407698	3	1	43	1	0	0	0	0	1	0	0	0	2426	1058	37	1	281	1	C8orf40	8	42407698	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	3707819	42407698	103956324	261	36014											
KIAA0146	23514	broad.mit.edu	37	chr8	48625354	48625354	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtggcccccttgtgtgTgctgggctctgaagtcctgg	14	11	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:48625354T>C	uc003xqd.2	+	15	2117	c.2108T>C	c.(2107-2109)GTG>GCG	p.V703A	KIAA0146_uc011ldb.1_Missense_Mutation_p.V703A|KIAA0146_uc010lxs.2_Missense_Mutation_p.V178A|KIAA0146_uc011ldc.1_Missense_Mutation_p.V633A|KIAA0146_uc011ldd.1_Missense_Mutation_p.V643A|KIAA0146_uc003xqe.2_Missense_Mutation_p.V178A|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Missense_Mutation_p.V392A|KIAA0146_uc010lxt.2_Missense_Mutation_p.V392A|KIAA0146_uc011ldf.1_Missense_Mutation_p.V208A|KIAA0146_uc011ldg.1_Missense_Mutation_p.V193A|KIAA0146_uc003xqg.1_5'Flank	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	703											0		Lung NSC(58;0.175)				CCCTTGTGTGTGCTGGGCTCT	0.607													C	48625354	T	C	48625354	3	2	43	1	0	0	0	0	1	0	0	0	8157	1696	59	3	2166	3	KIAA0146	8	48625354	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	6217656	48625354	97738668	262	36015											
DNAJC5B	85479	broad.mit.edu	37	chr8	66988980	66988980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaatcaacaacgcccacGcaatacttaccgacatttca	4	13	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:66988980G>A	uc003xvs.1	+	4	496	c.205G>A	c.(205-207)GCA>ACA	p.A69T	DNAJC5B_uc003xvt.1_RNA	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	69	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding				0		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			CAACGCCCACGCAATACTTAC	0.428													A	66988980	G	A	66988980	3	1	43	1	0	0	0	0	1	0	0	0	4651	1087	38	1	211	1	DNAJC5B	8	66988980	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	18363626	66988980	79375042	263	36016											
NCOA2	10499	broad.mit.edu	37	chr8	71071833	71071833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgcagcaacaagagtgCcatcagacaaggaaaaacga	10	8	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:71071833C>T	uc003xyn.1	-	10	1193	c.1031G>A	c.(1030-1032)GGC>GAC	p.G344D		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	344					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AACAAGAGTGCCATCAGACAA	0.398			T	RUNXBP2	AML								T	71071833	C	T	71071833	3	4	43	1	0	0	0	0	1	0	0	0	10229	739	26	2	3419	2	NCOA2	8	71071833	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	4082853	71071833	75292189	264	36017											
LRRCC1	85444	broad.mit.edu	37	chr8	86042248	86042248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcgagaaagagaacaagCgcaacaacttcatcaacttc	6	11	3	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:86042248C>T	uc003ycw.2	+	11	1875	c.1721C>T	c.(1720-1722)GCG>GTG	p.A574V	LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_Missense_Mutation_p.A275V|LRRCC1_uc003ycx.2_Missense_Mutation_p.A481V|LRRCC1_uc003ycy.2_Missense_Mutation_p.A554V	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	574	Potential.				cell division|mitosis	centriole|nucleus					0						AGAGAACAAGCGCAACAACTT	0.368													T	86042248	C	T	86042248	3	4	43	1	0	0	0	0	1	0	0	0	9026	768	27	1	1763	1	LRRCC1	8	86042248	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	14970415	86042248	60321774	265	36018											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885339	88885339	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagttccagtcatgtctgaTgacaccaggaattggccatc	9	10	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:88885339T>C	uc003ydz.2	-	1	958	c.861A>G	c.(859-861)TCA>TCG	p.S287S		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	287	WD 1.									ovary(1)	1						TCATGTCTGATGACACCAGGA	0.507													C	88885339	T	C	88885339	2	2	43	1	0	0	0	0	0	0	0	1	4272	1451	51	3		3	DCAF4L2	8	88885339	Silent	SNP	T	TCGA-BR-6802-01A-11D-1882-08	2843091	88885339	57478683	266	36019											
KIAA1429	25962	broad.mit.edu	37	chr8	95500956	95500956	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgtgtaaaggagcgtacaTgacgacctctaccactgcct	9	12	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:95500956T>C	uc003ygo.1	-	24	5430	c.5417A>G	c.(5416-5418)CAT>CGT	p.H1806R	KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	1806					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GGAGCGTACATGACGACCTCT	0.443													C	95500956	T	C	95500956	3	2	43	1	0	0	0	0	1	0	0	0	8231	1464	51	3	25	3	KIAA1429	8	95500956	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	6615617	95500956	50863066	267	36020											
RGS22	26166	broad.mit.edu	37	chr8	101011627	101011627	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgaagaatcttcccccAgccaccacttaaatgcatta	4	14	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:101011627A>C	uc003yjb.1	-	19	3007	c.2812T>G	c.(2812-2814)TGG>GGG	p.W938G	RGS22_uc003yja.1_Missense_Mutation_p.W757G|RGS22_uc003yjc.1_Missense_Mutation_p.W926G	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	938	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATCTTCCCCCAGCCACCACTT	0.363													C	101011627	A	C	101011627	3	2	43	1	0	0	0	0	1	0	0	0	13305	188	7	5	1018	5	RGS22	8	101011627	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	5510671	101011627	45352395	268	36021											
RIMS2	9699	broad.mit.edu	37	chr8	104927779	104927779	+	Frame_Shift_Del	DEL	A	A	-													tgtgcatttattactaaagtAaaaaaaggaagtttagctga							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:104927778_104927778TA>T	uc003yls.3	+	4	1443	c.1202_1202TA>T	c.(1201-1203)gtafs	p.V401fs	RIMS2_uc003ylp.3_Frame_Shift_Del_p.V623fs|RIMS2_uc003ylw.2_Frame_Shift_Del_p.V431fs|RIMS2_uc003ylq.3_Frame_Shift_Del_p.V431fs|RIMS2_uc003ylr.3_Frame_Shift_Del_p.V478fs|RIMS2_uc003ylt.3_Frame_Shift_Del_p.V24fs|RIMS2_uc003ylu.1_Frame_Shift_Del_p.V14fs|RIMS2_uc003ylv.1_Frame_Shift_Del_p.V14fs	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	701					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATTACTAAAGTAAAAAAAGGA	0.323										HNSCC(12;0.0054)			-	104927779	A	-	104927779	7	5	43	1	0	1	0	1	0	0	0	0	13368	349	13	0	2021	0	RIMS2	8	104927779	Frame_Shift_Del	DEL	A	TCGA-BR-6802-01A-11D-1882-08	3916152	104927779	41436243	269	36022											
SYBU	55638	broad.mit.edu	37	chr8	110587336	110587336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagtactgcctcacgacGcccccgcgagccagtgggat	11	17	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:110587336G>A	uc003ynj.3	-	7	1954	c.1791C>T	c.(1789-1791)GGC>GGT	p.G597G	SYBU_uc003yni.3_Silent_p.G594G|SYBU_uc003ynk.3_Silent_p.G478G|SYBU_uc010mco.2_Silent_p.G596G|SYBU_uc003ynl.3_Silent_p.G596G|SYBU_uc010mcp.2_Silent_p.G597G|SYBU_uc010mcq.2_Silent_p.G597G|SYBU_uc003yno.3_Silent_p.G478G|SYBU_uc010mcr.2_Silent_p.G597G|SYBU_uc003ynm.3_Silent_p.G596G|SYBU_uc003ynn.3_Silent_p.G596G|SYBU_uc010mcs.2_Silent_p.G478G|SYBU_uc010mct.2_Silent_p.G597G|SYBU_uc010mcu.2_Silent_p.G596G|SYBU_uc003ynp.3_Silent_p.G529G|SYBU_uc010mcv.2_Silent_p.G597G|SYBU_uc003ynh.3_Silent_p.G391G|SYBU_uc011lhw.1_Silent_p.G467G	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	597						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						GCCTCACGACGCCCCCGCGAG	0.597													A	110587336	G	A	110587336	2	1	43	1	0	0	0	0	0	0	0	1	15424	1074	38	1		1	SYBU	8	110587336	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	5659557	110587336	35776686	270	36023											
ZHX2	22882	broad.mit.edu	37	chr8	123965545	123965546	+	Frame_Shift_Ins	INS	-	-	A													ggattccatggggtctggcaINSaaaaaggccaagatgtggga					rs141456875		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:123965544_123965545C>CA	uc022bag.1	+	0	1794_1795	c.1794_1795C>CA	c.(1792-1797)ggcaaafs	p.G598fs	ZHX2_uc003ypk.1_Frame_Shift_Ins_p.G598fs	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	598						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TGGGGTCTGGCAAAAAAGGCCA	0.574													A	123965546	-	A	123965545	7	5	43	1	0	1	1	0	0	0	0	0	17673	131	5	0	1797	0	ZHX2	8	123965545	Frame_Shift_Ins	INS	-	TCGA-BR-6802-01A-11D-1882-08	13378209	123965545	22398477	271	36024											
MTSS1	9788	broad.mit.edu	37	chr8	125565501	125565501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggttaacggaagcttggCcgctccacattgaggagggc	16	9	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:125565501C>T	uc003yrk.2	-	14	2534	c.2000G>A	c.(1999-2001)GGC>GAC	p.G667D	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.G316D|MTSS1_uc011lin.1_Missense_Mutation_p.G441D|MTSS1_uc011lio.1_Missense_Mutation_p.G557D|MTSS1_uc003yri.2_Missense_Mutation_p.G385D|MTSS1_uc003yrj.2_Missense_Mutation_p.G642D|MTSS1_uc003yrl.2_Missense_Mutation_p.G671D	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	667	Pro-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGAAGCTTGGCCGCTCCACAT	0.612													T	125565501	C	T	125565501	3	4	43	1	0	0	0	0	1	0	0	0	9962	739	26	2	271	2	MTSS1	8	125565501	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1599956	125565501	20798521	272	36025											
FAM135B	51059	broad.mit.edu	37	chr8	139163507	139163507	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaactccaaaggatcccaAaggctgatgggtgatgggaa	12	8	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:139163507A>G	uc003yuy.2	-	13	3382	c.3211T>C	c.(3211-3213)TTG>CTG	p.L1071L	FAM135B_uc003yux.2_Silent_p.L972L|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.L633L|FAM135B_uc003yvb.2_Silent_p.L633L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1071										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAGGATCCCAAAGGCTGATGG	0.532										HNSCC(54;0.14)			G	139163507	A	G	139163507	2	3	43	1	0	0	0	0	0	0	0	1	5449	11	1	3		3	FAM135B	8	139163507	Silent	SNP	A	TCGA-BR-6802-01A-11D-1882-08	13598006	139163507	7200515	273	36026											
FLJ43860	389690	broad.mit.edu	37	chr8	142500233	142500233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataccgctggaggacaggacGcccatcacgtagaggaggct	14	11	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:142500233G>A	uc003ywi.2	-	5	762	c.681C>T	c.(679-681)GGC>GGT	p.G227G	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	227							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGGACAGGACGCCCATCACGT	0.637													A	142500233	G	A	142500233	2	1	43	1	0	0	0	0	0	0	0	1	5930	1074	38	1		1	FLJ43860	8	142500233	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	3336726	142500233	3863789	274	36027											
RHPN1	114822	broad.mit.edu	37	chr8	144462879	144462879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctcccagacgctgcagcGctcactggccaagtatgcgg	12	14	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:144462879G>A	uc003yyb.2	+	11	1470	c.1337G>A	c.(1336-1338)CGC>CAC	p.R446H		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	rhophilin 1	471	BRO1.				signal transduction	intracellular				large_intestine(1)	1	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			ACGCTGCAGCGCTCACTGGCC	0.687													A	144462879	G	A	144462879	3	1	43	1	0	0	0	0	1	0	0	0	13350	1087	38	1	1379	1	RHPN1	8	144462879	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1962646	144462879	1901143	275	36028											
ZNF623	9831	broad.mit.edu	37	chr8	144732383	144732384	+	Frame_Shift_Ins	INS	-	-	AG													tcagaccttcttctgcttcaINSgagagagctcatagaggggg							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr8:144732382_144732383C>CAG	uc003yzd.2	+	0	429_430	c.340_341C>CAG	c.(340-342)cagfs	p.Q114fs	ZNF623_uc011lkp.1_Frame_Shift_Ins_p.Q74fs|ZNF623_uc003yzc.2_Frame_Shift_Ins_p.Q74fs	NM_014789	NP_055604	O75123	ZN623_HUMAN	Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L113R(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCTTCTGCTTCAGAGAGAGCTC	0.48													AG	144732384	-	AG	144732383	7	5	43	1	0	1	1	0	0	0	0	0	18044	188	7	0	343	0	ZNF623	8	144732383	Frame_Shift_Ins	INS	-	TCGA-BR-6802-01A-11D-1882-08	269504	144732383	1631639	276	36029											
AK3	50808	broad.mit.edu	37	chr9	4719182	4719182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttatagactcggccactggCgggatgaatccagcgagcag	14	10	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:4719182C>T	uc003ziq.1	-	3	537	c.397G>A	c.(397-399)GCC>ACC	p.A133T	AK3_uc003zip.1_RNA|AK3_uc011lma.1_Missense_Mutation_p.A93T|AK3_uc003zir.1_Missense_Mutation_p.A63T	NM_016282	NP_057366	Q9UIJ7	KAD3_HUMAN	adenylate kinase 3	133					blood coagulation	mitochondrial matrix	ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity			ovary(2)	2	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)		CGGCCACTGGCGGGATGAATC	0.473													T	4719182	C	T	4719182	3	4	43	1	0	0	0	0	1	0	0	0	441	768	27	1	298	1	AK3	9	4719182	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08		4719182	136494249	277	36030											
KDM4C	23081	broad.mit.edu	37	chr9	6888045	6888045	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcagtattgaagaaataTggtattccctttgacaaggt	8	7	1	3	rs35244873	byFrequency	TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:6888045T>C	uc003zkh.2	+	7	1345	c.765T>C	c.(763-765)TAT>TAC	p.Y255Y	KDM4C_uc010mhu.2_Silent_p.Y277Y|KDM4C_uc010mhw.2_Silent_p.Y255Y|KDM4C_uc011lmi.1_Silent_p.Y255Y|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Silent_p.Y255Y|KDM4C_uc011lmk.1_Silent_p.Y74Y	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	255	JmjC.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1						TGAAGAAATATGGTATTCCCT	0.333													C	6888045	T	C	6888045	2	2	43	1	0	0	0	0	0	0	0	1	8130	1471	51	3		3	KDM4C	9	6888045	Silent	SNP	T	TCGA-BR-6802-01A-11D-1882-08	2168863	6888045	134325386	278	36031											
MPDZ	8777	broad.mit.edu	37	chr9	13125277	13125277	+	Frame_Shift_Del	DEL	T	T	-													tcagagactgggagctgttcTttttttctccactggctgca							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:13125276_13125276CT>C	uc010mia.1	-	33	4803	c.4746_4746AG>G	c.(4744-4746)aagfs	p.K1582fs	MPDZ_uc003zky.4_Frame_Shift_Del_p.K144fs|MPDZ_uc010mib.3_Frame_Shift_Del_p.K287fs|MPDZ_uc010mhx.3_Frame_Shift_Del_p.K404fs|MPDZ_uc011lmm.2_Frame_Shift_Del_p.K441fs|MPDZ_uc003zkz.4_Frame_Shift_Del_p.K275fs|MPDZ_uc010mhz.3_Frame_Shift_Del_p.K1549fs|MPDZ_uc011lmn.2_Frame_Shift_Del_p.K1549fs|MPDZ_uc010mhy.3_Frame_Shift_Del_p.K1582fs|MPDZ_uc003zlb.4_Frame_Shift_Del_p.K1582fs	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1582					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGGAGCTGTTCTTTTTTTCTC	0.512													-	13125277	T	-	13125277	7	5	43	1	0	1	0	1	0	0	0	0	9722	1609	56	0	1428	0	MPDZ	9	13125277	Frame_Shift_Del	DEL	T	TCGA-BR-6802-01A-11D-1882-08	6237232	13125277	128088154	279	36032											
MPDZ	8777	broad.mit.edu	37	chr9	13143471	13143471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcattatccaaccttgtcGgcgttgatttgtagagagtc	12	8	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:13143471G>A	uc010mia.1	-	26	3891	c.3834C>T	c.(3832-3834)GCC>GCT	p.A1278A	MPDZ_uc010mhx.2_Intron|MPDZ_uc011lmm.1_Intron|MPDZ_uc003zkz.3_Intron|MPDZ_uc010mhy.2_Silent_p.A1278A|MPDZ_uc010mhz.2_Intron|MPDZ_uc011lmn.1_Intron|MPDZ_uc003zlb.3_Silent_p.A1278A	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1278					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		CAACCTTGTCGGCGTTGATTT	0.428													A	13143471	G	A	13143471	2	1	43	1	0	0	0	0	0	0	0	1	9722	1103	39	1		1	MPDZ	9	13143471	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	18194	13143471	128069960	280	36033											
FREM1	158326	broad.mit.edu	37	chr9	14805124	14805124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatagttaatgtgaaaagCgttcatgtctttccactgaa	7	8	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:14805124C>T	uc003zlm.2	-	19	3891	c.3301G>A	c.(3301-3303)GCT>ACT	p.A1101T	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	1101	CSPG 7.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGTGAAAAGCGTTCATGTCT	0.413													T	14805124	C	T	14805124	3	4	43	1	0	0	0	0	1	0	0	0	6044	768	27	1	3364	1	FREM1	9	14805124	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1661653	14805124	126408307	281	36034											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18574213	18574213	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacctaaggtcttagatggTacgcgttgctatacagaatc	10	9	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:18574213T>C	uc003zne.3	+	4	550	c.423T>C	c.(421-423)GGT>GGC	p.G141G	ADAMTSL1_uc003znb.2_Silent_p.G141G|ADAMTSL1_uc003znc.3_Silent_p.G141G	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	141						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		TCTTAGATGGTACGCGTTGCT	0.448													C	18574213	T	C	18574213	2	2	43	1	0	0	0	0	0	0	0	1	274	1625	57	3		3	ADAMTSL1	9	18574213	Silent	SNP	T	TCGA-BR-6802-01A-11D-1882-08	3769089	18574213	122639218	282	36035											
KIAA1797	54914	broad.mit.edu	37	chr9	20874757	20874757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggatctttcagttcctggCtcttgctatctcaaactgtt	8	10	4	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:20874757C>T	uc003zog.1	+	21	2631	c.2268C>T	c.(2266-2268)GGC>GGT	p.G756G	KIAA1797_uc003zoh.1_Silent_p.G192G	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	756						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		CAGTTCCTGGCTCTTGCTATC	0.408													T	20874757	C	T	20874757	2	4	43	1	0	0	0	0	0	0	0	1	8258	784	28	2		2	KIAA1797	9	20874757	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	2300544	20874757	120338674	283	36036											
IFNA7	3444	broad.mit.edu	37	chr9	21202157	21202157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcagtaaagaaaaggacCgggccattgggattttgcaa	11	8	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:21202157C>T	uc003zop.1	-	1	48	c.8G>A	c.(7-9)CGG>CAG	p.R3Q	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	interferon, alpha 7 precursor	3					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding				0				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGAAAAGGACCGGGCCATTGG	0.507													T	21202157	C	T	21202157	3	4	43	1	0	0	0	0	1	0	0	0	7542	652	23	1	565	1	IFNA7	9	21202157	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	327400	21202157	120011274	284	36037											
TAF1L	138474	broad.mit.edu	37	chr9	32632794	32632794	+	Frame_Shift_Del	DEL	A	A	-													tcattttcttcttctggggcAaaaaaggatttctcaccata							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:32632793_32632793CA>C	uc003zrg.1	-	0	2875	c.2785_2785TG>G	c.(2785-2787)gccfs	p.A929fs	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	929					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.A929S(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTTCTGGGGCAAAAAAGGAT	0.458													-	32632794	A	-	32632794	7	5	43	1	0	1	0	1	0	0	0	0	15520	127	5	0	2700	0	TAF1L	9	32632794	Frame_Shift_Del	DEL	A	TCGA-BR-6802-01A-11D-1882-08	11430637	32632794	108580637	285	36038											
UNC13B	10497	broad.mit.edu	37	chr9	35382432	35382432	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttactggccaacatcaaCgcctactatgcccacacaac	4	17	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:35382432C>T	uc003zwq.2	+	20	2779	c.2487C>T	c.(2485-2487)AAC>AAT	p.N829N	UNC13B_uc003zwr.2_Silent_p.N829N	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	829					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCAACATCAACGCCTACTATG	0.483													T	35382432	C	T	35382432	2	4	43	1	0	0	0	0	0	0	0	1	16982	535	19	1		1	UNC13B	9	35382432	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	2749638	35382432	105830999	286	36039											
FAM122A	116224	broad.mit.edu	37	chr9	71395740	71395740	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaagagatttttccagggCatcaccaacatgctttcttc	6	12	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:71395740C>T	uc004agw.1	+	1	777	c.660C>T	c.(658-660)GGC>GGT	p.G220G	PIP5K1B_uc004agu.2_Intron|PIP5K1B_uc011lrq.1_Intron|PIP5K1B_uc004agv.2_Intron	NM_138333	NP_612206	Q96E09	F122A_HUMAN	hypothetical protein LOC116224	220											0						TTTTCCAGGGCATCACCAACA	0.453													T	71395740	C	T	71395740	2	4	43	1	0	0	0	0	0	0	0	1	5419	697	25	2		2	FAM122A	9	71395740	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	36013308	71395740	69817691	287	36040											
TLE4	7091	broad.mit.edu	37	chr9	82323671	82323671	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgctgccgccgccgcTgctgctgctgcctatgggag	15	15	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:82323671T>C	uc004ald.2	+	14	2157	c.1308T>C	c.(1306-1308)GCT>GCC	p.A436A	TLE4_uc004alc.2_Silent_p.A411A|TLE4_uc010mpr.2_Silent_p.A290A|TLE4_uc004ale.2_Silent_p.A48A|TLE4_uc011lsq.1_Silent_p.A379A|TLE4_uc010mps.2_Silent_p.A335A|TLE4_uc004alf.2_Silent_p.A350A	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						ccgccgccgctgctgctgctg	0.433													C	82323671	T	C	82323671	2	2	43	1	0	0	0	0	0	0	0	1	15938	1567	55	3		3	TLE4	9	82323671	Silent	SNP	T	TCGA-BR-6802-01A-11D-1882-08	10927931	82323671	58889760	288	36041											
PTPDC1	138639	broad.mit.edu	37	chr9	96859844	96859844	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catctgcttcatggttatgaGgcacgacttctgaaacacgt	9	10	3	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:96859844G>T	uc004auf.1	+	7	1174	c.834G>T	c.(832-834)GAG>GAT	p.E278D	PTPDC1_uc004aug.1_Missense_Mutation_p.E278D|PTPDC1_uc004auh.1_Missense_Mutation_p.E330D|PTPDC1_uc010mrj.1_Missense_Mutation_p.E332D|PTPDC1_uc010mri.1_Missense_Mutation_p.E330D	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	278							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1						ATGGTTATGAGGCACGACTTC	0.468													T	96859844	G	T	96859844	3	4	43	1	0	0	0	0	1	0	0	0	12773	991	35	5	1098	5	PTPDC1	9	96859844	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	14536173	96859844	44353587	289	36042											
COL15A1	1306	broad.mit.edu	37	chr9	101748038	101748039	+	Frame_Shift_Ins	INS	-	-	A													cgccatcagcgtcgtggtgaINSagcccagcagcacccgtggt							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:101748037_101748038G>GA	uc004azb.1	+	2	497_498	c.291_292G>GA	c.(289-294)gtgaagfs	p.V97fs		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	97	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GCGTCGTGGTGAAGCCCAGCAG	0.634													A	101748039	-	A	101748038	7	5	43	1	0	1	1	0	0	0	0	0	3672	247	9	0	302	0	COL15A1	9	101748038	Frame_Shift_Ins	INS	-	TCGA-BR-6802-01A-11D-1882-08	4888194	101748038	39465393	290	36043											
ZNF462	58499	broad.mit.edu	37	chr9	109687613	109687613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagctgtctacaaatgtgacGaatgtccgtttacttgcaag	9	9	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:109687613G>A	uc004bcz.2	+	3	1709	c.1420G>A	c.(1420-1422)GAA>AAA	p.E474K	ZNF462_uc010mto.2_Missense_Mutation_p.E322K|ZNF462_uc004bda.2_Missense_Mutation_p.E322K	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	474	C2H2-type 5.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						CAAATGTGACGAATGTCCGTT	0.473													A	109687613	G	A	109687613	3	1	43	1	0	0	0	0	1	0	0	0	17923	1059	37	1	1426	1	ZNF462	9	109687613	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	7939575	109687613	31525818	291	36044											
IKBKAP	8518	broad.mit.edu	37	chr9	111681575	111681576	+	Frame_Shift_Ins	INS	-	-	C													acagcaaaaaactgtccatcINScccccgccaggtaacttgtg							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:111681574_111681575T>TC	uc004bdm.4	-	6	1127_1128	c.607_608A>GA	c.(607-609)gatfs	p.D203fs	IKBKAP_uc004bdl.3_5'Flank|IKBKAP_uc011lwc.2_Frame_Shift_Ins_p.D89fs|IKBKAP_uc010mtq.3_Intron	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	203					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAACTGTCCATCCCCCCGCCAG	0.386													C	111681576	-	C	111681575	7	5	43	1	0	1	1	0	0	0	0	0	7610	855	30	0	3515	0	IKBKAP	9	111681575	Frame_Shift_Ins	INS	-	TCGA-BR-6802-01A-11D-1882-08	1993962	111681575	29531856	292	36045											
MUSK	4593	broad.mit.edu	37	chr9	113550073	113550073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggactttcagagggaggcaGccctcatggcagaatttgac	13	10	2	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:113550073G>A	uc004bey.2	+	13	1980	c.1882G>A	c.(1882-1884)GCC>ACC	p.A628T	MUSK_uc004bez.1_Missense_Mutation_p.A208T	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	628	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						GAGGGAGGCAGCCCTCATGGC	0.438													A	113550073	G	A	113550073	3	1	43	1	0	0	0	0	1	0	0	0	9989	971	34	2	1968	2	MUSK	9	113550073	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1868498	113550073	27663358	293	36046											
DAB2IP	153090	broad.mit.edu	37	chr9	124530798	124530798	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagcgcttcctgctggagatCtccaaccccgagaccctctc	8	18	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:124530798C>A	uc004bln.2	+	10	1770	c.1701C>A	c.(1699-1701)ATC>ATA	p.I567I	DAB2IP_uc004blo.2_Silent_p.I471I|DAB2IP_uc004blp.2_Silent_p.I22I	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	595					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2						TGCTGGAGATCTCCAACCCCG	0.587													A	124530798	C	A	124530798	2	1	43	1	0	0	0	0	0	0	0	1	4219	903	32	5		5	DAB2IP	9	124530798	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	10980725	124530798	16682633	294	36047											
NEK6	10783	broad.mit.edu	37	chr9	127089652	127089652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgttcatcacagccacgGgcgtcgtgaagctcggtgac	13	12	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:127089652G>A	uc004bog.2	+	7	699	c.550G>A	c.(550-552)GGC>AGC	p.G184S	NEK6_uc004bof.2_Missense_Mutation_p.G202S|NEK6_uc004boh.2_Missense_Mutation_p.G218S|NEK6_uc010mwj.2_Missense_Mutation_p.G137S|NEK6_uc010mwk.2_Missense_Mutation_p.G184S|NEK6_uc004boi.2_Missense_Mutation_p.G184S	NM_014397	NP_055212	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6 isoform 2	184	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|kidney(1)	3						CACAGCCACGGGCGTCGTGAA	0.627													A	127089652	G	A	127089652	3	1	43	1	0	0	0	0	1	0	0	0	10328	1232	43	4	757	4	NEK6	9	127089652	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	2558854	127089652	14123779	295	36048											
GOLGA1	2800	broad.mit.edu	37	chr9	127644063	127644063	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacctcaaaagccctttacCtcggattcgcgacaagacat	6	14	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:127644063C>A	uc004bpc.2	-	21	2478	c.2136G>T	c.(2134-2136)GAG>GAT	p.E712D	GOLGA1_uc010mws.2_RNA	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	golgin 97	712	GRIP.					Golgi cisterna membrane				ovary(1)	1						AGCCCTTTACCTCGGATTCGC	0.502													A	127644063	C	A	127644063	3	1	43	1	0	0	0	0	1	0	0	0	6551	695	24	5	179	5	GOLGA1	9	127644063	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	554411	127644063	13569368	296	36049											
C9orf119	375757	broad.mit.edu	37	chr9	131038469	131038469	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggcgtcacaacaaaagCtgcgcacgcaaccgctgtcc	10	15	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:131038469C>A	uc004bup.2	+	1	45	c.45C>A	c.(43-45)AGC>AGA	p.S15R	GOLGA2_uc011maw.1_5'Flank|GOLGA2_uc010mxw.2_5'Flank|GOLGA2_uc004bul.1_5'Flank|C9orf119_uc010mxx.1_Missense_Mutation_p.S15R	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	hypothetical protein LOC375757	15					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding				0						ACAACAAAAGCTGCGCACGCA	0.632													A	131038469	C	A	131038469	3	1	43	1	0	0	0	0	1	0	0	0	2452	796	28	5	47	5	C9orf119	9	131038469	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	3394406	131038469	10174962	297	36050											
DOLK	22845	broad.mit.edu	37	chr9	131708196	131708196	+	Frame_Shift_Del	DEL	C	C	-													ggttccaggccagcggatctCccccatggtgctaccgaaga							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:131708195_131708195TC>T	uc004bwr.3	-	0	1818	c.1388_1388GA>A	c.(1387-1389)gagfs	p.E463fs	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	Homo sapiens dolichol kinase (DOLK), mRNA.	463	CTP-binding.				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CCAGCGGATCTCCCCCATGGT	0.547													-	131708196	C	-	131708196	7	5	43	1	0	1	0	1	0	0	0	0	4703	864	30	0	233	0	DOLK	9	131708196	Frame_Shift_Del	DEL	C	TCGA-BR-6802-01A-11D-1882-08	669727	131708196	9505235	298	36051											
RAPGEF1	2889	broad.mit.edu	37	chr9	134459791	134459791	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagttgaagttattcagcttCcgcaagtgctgccgagagag	13	8	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:134459791C>T	uc004cbc.2	-	21	2893	c.2763G>A	c.(2761-2763)CGG>CGA	p.R921R	RAPGEF1_uc004cbb.2_Silent_p.R939R	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	921	Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TATTCAGCTTCCGCAAGTGCT	0.642													T	134459791	C	T	134459791	2	4	43	1	0	0	0	0	0	0	0	1	13043	842	30	4		4	RAPGEF1	9	134459791	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	2751595	134459791	6753640	299	36052											
BARHL1	56751	broad.mit.edu	37	chr9	135458453	135458453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagccccggcccagtcgcGcaccgtcacctcctcctttc	7	22	2	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:135458453G>A	uc004cbp.1	+	1	461	c.269G>A	c.(268-270)CGC>CAC	p.R90H		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	90						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		GCCCAGTCGCGCACCGTCACC	0.687													A	135458453	G	A	135458453	3	1	43	1	0	0	0	0	1	0	0	0	1313	1087	38	1	271	1	BARHL1	9	135458453	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	998662	135458453	5754978	300	36053											
RALGDS	5900	broad.mit.edu	37	chr9	135977061	135977061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtgtggcagccacgggcGtggtggaggctgaggaggac	21	8	0	1	rs143871051	byFrequency	TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:135977061G>A	uc004cco.2	-	16	2320	c.2300C>T	c.(2299-2301)ACG>ATG	p.T767M	RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccn.2_Translation_Start_Site|RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.T755M|RALGDS_uc004ccr.2_Missense_Mutation_p.T766M|RALGDS_uc011mcv.1_Missense_Mutation_p.T738M|RALGDS_uc004ccs.2_Missense_Mutation_p.T712M|RALGDS_uc011mcw.1_Missense_Mutation_p.T838M|RALGDS_uc004ccv.1_Silent_p.H594H|RALGDS_uc004ccu.1_Missense_Mutation_p.T536M	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	767					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		AGCCACGGGCGTGGTGGAGGC	0.652			T	CIITA	PMBL|Hodgkin Lymphona|								A	135977061	G	A	135977061	3	1	43	1	0	0	0	0	1	0	0	0	13016	1145	40	1	456	1	RALGDS	9	135977061	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	518608	135977061	5236370	301	36054											
KCNT1	57582	broad.mit.edu	37	chr9	138650317	138650317	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgttcaaccaggtcctcAtcctcttctgcaccctgctg	6	17	4	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr9:138650317A>G	uc011mdq.1	+	10	891	c.817A>G	c.(817-819)ATC>GTC	p.I273V	KCNT1_uc011mdr.1_Missense_Mutation_p.I100V|KCNT1_uc010nbf.2_Missense_Mutation_p.I225V|KCNT1_uc004cgo.1_Missense_Mutation_p.I22V	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	273						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCAGGTCCTCATCCTCTTCTG	0.627													G	138650317	A	G	138650317	3	3	43	1	0	0	0	0	1	0	0	0	8091	217	8	3	855	3	KCNT1	9	138650317	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	2673256	138650317	2563114	302	36055											
DIP2C	22982	broad.mit.edu	37	chr10	435950	435950	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttccgtgtagccacacgcCtgcgtcagggcctggcagtg	13	15	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:435950C>A	uc001ifp.2	-	13	1668	c.1578G>T	c.(1576-1578)CAG>CAT	p.Q526H	DIP2C_uc009xhj.1_Missense_Mutation_p.Q222H	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	526						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGCCACACGCCTGCGTCAGGG	0.607													A	435950	C	A	435950	3	1	43	1	0	0	0	0	1	0	0	0	4529	680	24	5	3192	5	DIP2C	10	435950	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08		435950	135098797	303	36056											
WDR37	22884	broad.mit.edu	37	chr10	1170951	1170951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctggcgcggcttccccGgagcagccgacaggtaacag	15	15	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:1170951G>A	uc001igf.1	+	13	1513	c.1340G>A	c.(1339-1341)CGG>CAG	p.R447Q	WDR37_uc009xhm.1_Missense_Mutation_p.R448Q|WDR37_uc009xhn.1_RNA|WDR37_uc001igg.1_RNA	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	447											0		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CGGCTTCCCCGGAGCAGCCGA	0.507													A	1170951	G	A	1170951	3	1	43	1	0	0	0	0	1	0	0	0	17288	1116	39	1	1386	1	WDR37	10	1170951	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	735001	1170951	134363796	304	36057											
ITIH5	80760	broad.mit.edu	37	chr10	7608006	7608006	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctacccagcagtccgtgGcagttgctggaaaggccctc	11	14	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:7608006G>A	uc001ijq.2	-	13	2593	c.2514C>T	c.(2512-2514)TGC>TGT	p.C838C	ITIH5_uc001ijp.2_Silent_p.C624C	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	838					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						GCAGTCCGTGGCAGTTGCTGG	0.547													A	7608006	G	A	7608006	2	1	43	1	0	0	0	0	0	0	0	1	7907	1195	42	2		2	ITIH5	10	7608006	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	6437055	7608006	127926741	305	36058											
ITGA8	8516	broad.mit.edu	37	chr10	15726071	15726071	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctacatagcaggtgccaactGggtccttttctggtgtcggt	12	10	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:15726071G>T	uc001ioc.1	-	4	500	c.500C>A	c.(499-501)CCA>CAA	p.P167Q	ITGA8_uc010qcb.1_Missense_Mutation_p.P167Q	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	167	Extracellular (Potential).|FG-GAP 2.				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						GGTGCCAACTGGGTCCTTTTC	0.418													T	15726071	G	T	15726071	3	4	43	1	0	0	0	0	1	0	0	0	7882	1348	47	5	2799	5	ITGA8	10	15726071	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	8118065	15726071	119808676	306	36059											
CUBN	8029	broad.mit.edu	37	chr10	16867001	16867001	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaagttaatcggaatgcGgatggacgccgtgcataatc	11	10	0	0	rs146137990		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:16867001G>A	uc001ioo.2	-	67	10897	c.10845C>T	c.(10843-10845)TCC>TCT	p.S3615S		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3615	CUB 27.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATCGGAATGCGGATGGACGCC	0.468													A	16867001	G	A	16867001	2	1	43	1	0	0	0	0	0	0	0	1	4051	1103	39	1		1	CUBN	10	16867001	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1140930	16867001	118667746	307	36060											
CUBN	8029	broad.mit.edu	37	chr10	16911739	16911739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcttcacatttggtgggCgcttggaaccgcagaatttg	12	9	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:16911739C>T	uc001ioo.2	-	59	9402	c.9350G>A	c.(9349-9351)CGC>CAC	p.R3117H	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.R473H	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3117	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATTTGGTGGGCGCTTGGAACC	0.498													T	16911739	C	T	16911739	3	4	43	1	0	0	0	0	1	0	0	0	4051	768	27	1	1557	1	CUBN	10	16911739	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	44738	16911739	118623008	308	36061											
ARMC3	219681	broad.mit.edu	37	chr10	23244766	23244766	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaacaaccctccttgaacTtggagctgtggaacctttaa	7	10	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:23244766T>G	uc001irm.3	+	4	280	c.197T>G	c.(196-198)CTT>CGT	p.L66R	ARMC3_uc010qcv.1_Missense_Mutation_p.L66R|ARMC3_uc010qcw.1_5'UTR|ARMC3_uc001irn.1_5'UTR	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	66	ARM 2.						binding				0						CTCCTTGAACTTGGAGCTGTG	0.388													G	23244766	T	G	23244766	3	3	43	1	0	0	0	0	1	0	0	0	952	1609	56	5	207	5	ARMC3	10	23244766	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	6333027	23244766	112289981	309	36062											
ITGB1	3688	broad.mit.edu	37	chr10	33209310	33209310	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaaatgacttctgaggaaaGggactaaaagaatgcctaat	9	6	1	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:33209310G>T	uc001iws.3	-	10	1268	c.1132C>A	c.(1132-1134)CTT>ATT	p.L378I	ITGB1_uc001iwp.3_Missense_Mutation_p.L378I|ITGB1_uc001iwq.3_Missense_Mutation_p.L378I|ITGB1_uc001iwr.3_Missense_Mutation_p.L378I|ITGB1_uc001iwt.3_Missense_Mutation_p.L378I|ITGB1_uc001iwu.1_Missense_Mutation_p.L378I	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	378	Extracellular (Potential).|VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TCTGAGGAAAGGGACTAAAAG	0.353													T	33209310	G	T	33209310	3	4	43	1	0	0	0	0	1	0	0	0	7890	1000	35	5	1530	5	ITGB1	10	33209310	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	9964544	33209310	102325437	310	36063											
NRP1	8829	broad.mit.edu	37	chr10	33475246	33475246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgatcgtactcctctgGcttctggtagcgcagtttga	11	11	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:33475246G>A	uc001iwx.3	-	14	2756	c.2233C>T	c.(2233-2235)CCA>TCA	p.P745S	NRP1_uc001iwv.3_Missense_Mutation_p.P745S|NRP1_uc009xlz.2_Missense_Mutation_p.P739S|NRP1_uc001iww.3_Missense_Mutation_p.P557S|NRP1_uc001iwy.3_Missense_Mutation_p.P738S	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	745	Extracellular (Potential).|MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	TACTCCTCTGGCTTCTGGTAG	0.532													A	33475246	G	A	33475246	3	1	43	1	0	0	0	0	1	0	0	0	10660	1203	42	2	554	2	NRP1	10	33475246	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	265936	33475246	102059501	311	36064											
BMS1	9790	broad.mit.edu	37	chr10	43292065	43292065	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatgacgggttggaaaAcggctctagtgatgaggaag	16	4	1	5			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:43292065A>C	uc001jaj.2	+	10	1731	c.1373A>C	c.(1372-1374)AAC>ACC	p.N458T		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	458					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						GGGTTGGAAAACGGCTCTAGT	0.443													C	43292065	A	C	43292065	3	2	43	1	0	0	0	0	1	0	0	0	1472	43	2	5	1407	5	BMS1	10	43292065	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	9816819	43292065	92242682	312	36065											
ZNF32	7580	broad.mit.edu	37	chr10	44139887	44139887	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggacagcgagactacctcGttgactgaagcttttcccac	10	12	0	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:44139887G>A	uc001jbb.2	-	3	622	c.433C>T	c.(433-435)CGA>TGA	p.R145*	uc001jba.2_Intron|ZNF32_uc001jbc.2_Nonsense_Mutation_p.R145*	NM_001005368	NP_001005368	P17041	ZNF32_HUMAN	zinc finger protein 32	145	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		AGACTACCTCGTTGACTGAAG	0.483													A	44139887	G	A	44139887	4	1	43	1	0	0	0	0	0	1	0	0	17835	1153	40	1	392	1	ZNF32	10	44139887	Nonsense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	847822	44139887	91394860	313	36066											
GDF2	2658	broad.mit.edu	37	chr10	48416403	48416403	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtagtcgacttatcggaCgtgtacctgttgtacaggtc	13	9	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:48416403C>T	uc001jfa.1	-	1	454	c.291G>A	c.(289-291)ACG>ACA	p.T97T		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	97					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3						ACTTATCGGACGTGTACCTGT	0.582													T	48416403	C	T	48416403	2	4	43	1	0	0	0	0	0	0	0	1	6314	523	19	1		1	GDF2	10	48416403	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	4276516	48416403	87118344	314	36067											
ANK3	288	broad.mit.edu	37	chr10	61823946	61823946	+	Frame_Shift_Del	DEL	T	T	-													tttccgtctctggtaacccaTttttttaataacatgaagct							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:61823945_61823945AT>A	uc001jky.3	-	38	12759	c.12421_12421AT>T	c.(12421-12423)tggfs	p.W4141fs	ANK3_uc001jkw.3_Frame_Shift_Del_p.W662fs|ANK3_uc009xpa.3_Frame_Shift_Del_p.W662fs|ANK3_uc001jkx.3_Frame_Shift_Del_p.W706fs|ANK3_uc010qih.2_Frame_Shift_Del_p.W1529fs|ANK3_uc001jkz.4_Frame_Shift_Del_p.W1522fs|ANK3_uc001jkv.3_Frame_Shift_Del_p.W61fs	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	4141	Death.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTGGTAACCCATTTTTTTAAT	0.308													-	61823946	T	-	61823946	7	5	43	1	0	1	0	1	0	0	0	0	622	1490	52	0	1046	0	ANK3	10	61823946	Frame_Shift_Del	DEL	T	TCGA-BR-6802-01A-11D-1882-08	13407543	61823946	73710801	315	36068											
ANK3	288	broad.mit.edu	37	chr10	61833987	61833987	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actggctttcatttgaaatgCtttaaccttttctttaatac	4	8	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:61833987C>A	uc001jky.2	-	37	6844	c.6652G>T	c.(6652-6654)GCA>TCA	p.A2218S	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2218					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						ATTTGAAATGCTTTAACCTTT	0.433													A	61833987	C	A	61833987	3	1	43	1	0	0	0	0	1	0	0	0	622	797	28	5	6822	5	ANK3	10	61833987	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	10041	61833987	73700760	316	36069											
LRIT2	340745	broad.mit.edu	37	chr10	85981787	85981787	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagccatccttggactgCggggctgcaggggtgcagct	17	10	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:85981787C>T	uc001kcy.2	-	3	1550	c.1542G>A	c.(1540-1542)CCG>CCA	p.P514P	LRIT2_uc010qmc.1_Silent_p.P524P	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	leucine rich repeat containing 22 precursor	514						integral to membrane				ovary(2)	2						CCTTGGACTGCGGGGCTGCAG	0.617													T	85981787	C	T	85981787	2	4	43	1	0	0	0	0	0	0	0	1	8948	755	27	1		1	LRIT2	10	85981787	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	24147800	85981787	49552960	317	36070											
WAPAL	23063	broad.mit.edu	37	chr10	88230820	88230820	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtgctctcaggtgcattcGaaaactgggcatggcacatt	11	9	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:88230820G>A	uc001kdo.2	-	8	2513	c.2071C>T	c.(2071-2073)CGA>TGA	p.R691*	WAPAL_uc009xsv.2_Nonsense_Mutation_p.R5*|WAPAL_uc001kdn.2_Nonsense_Mutation_p.R728*|WAPAL_uc009xsw.2_Nonsense_Mutation_p.R685*	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	691	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1						AGGTGCATTCGAAAACTGGGC	0.418													A	88230820	G	A	88230820	4	1	43	1	0	0	0	0	0	1	0	0	17245	1066	37	1	1549	1	WAPAL	10	88230820	Nonsense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	2249033	88230820	47303927	318	36071											
CYP2C19	1557	broad.mit.edu	37	chr10	96484237	96484237	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgacctcctccccaccaacCtgccccatgcagtgacctgt	6	19	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:96484237C>A	uc010qny.1	+	5	765	c.-93C>A	c.(-95--91)ACCTG>ACATG		CYP2C18_uc001kjv.3_Missense_Mutation_p.L366M|CYP2C18_uc001kjw.3_Missense_Mutation_p.L307M|CYP2C19_uc009xus.1_Intron	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,						exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CCCCACCAACCTGCCCCATGC	0.512													A	96484237	C	A	96484237	1	1	43	1	0	0	0	0	0	0	0	0	4166	680	24	5		5	CYP2C19	10	96484237	Translation_Start_Site	SNP	C	TCGA-BR-6802-01A-11D-1882-08	8253417	96484237	39050510	319	36072											
C10orf12	26148	broad.mit.edu	37	chr10	98742860	98742860	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccacacggaaactctggaGgacacagaaaagccaagtgt	10	10	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:98742860G>T	uc001kmv.2	+	1	1820	c.1713G>T	c.(1711-1713)GAG>GAT	p.E571D		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	571										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAACTCTGGAGGACACAGAAA	0.502													T	98742860	G	T	98742860	3	4	43	1	0	0	0	0	1	0	0	0	1589	991	35	5	1715	5	C10orf12	10	98742860	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	2258623	98742860	36791887	320	36073											
ENTPD7	57089	broad.mit.edu	37	chr10	101458568	101458568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtacagaggatgtgttgCgcattggtggccgctaccat	13	8	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:101458568C>T	uc001kqa.3	+	10	1466	c.1288C>T	c.(1288-1290)CGC>TGC	p.R430C	ENTPD7_uc009xwl.2_Missense_Mutation_p.R432C	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	430	Vesicular (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GGATGTGTTGCGCATTGGTGG	0.413													T	101458568	C	T	101458568	3	4	43	1	0	0	0	0	1	0	0	0	5144	768	27	1	1322	1	ENTPD7	10	101458568	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	2715708	101458568	34076179	321	36074											
LZTS2	84445	broad.mit.edu	37	chr10	102762312	102762313	+	Frame_Shift_Del	DEL	CT	CT	-													caccatggccattgtgcagaCtctgccagtgccactggagc							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:102762311_102762312ACT>A	uc001ksj.3	+	1	186_187	c.16_17ACT>A	c.(16-18)actfs	p.T6fs	LZTS2_uc010qpw.2_Frame_Shift_Del_p.T6fs|LZTS2_uc001ksk.3_Frame_Shift_Del_p.T6fs|LZTS2_uc001ksl.3_Frame_Shift_Del_p.T6fs|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	6	Required for centrosomal localization (By similarity).				Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CATTGTGCAGACTCTGCCAGTG	0.639													-	102762313	CT	-	102762312	7	5	43	1	0	1	0	1	0	0	0	0	9139	565	20	0	19	0	LZTS2	10	102762312	Frame_Shift_Del	DEL	CT	TCGA-BR-6802-01A-11D-1882-08	1303744	102762312	32772435	322	36075											
SUFU	51684	broad.mit.edu	37	chr10	104264032	104264032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgccatctacggagagtgCcgccgcctttaccctgacca	9	17	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:104264032C>T	uc001kvy.1	+	1	269	c.123C>T	c.(121-123)TGC>TGT	p.C41C	SUFU_uc001kvw.1_Silent_p.C41C|SUFU_uc001kvx.2_Silent_p.C41C|ACTR1A_uc001kvv.2_5'Flank|ACTR1A_uc010qqn.1_5'Flank|ACTR1A_uc010qqo.1_5'Flank	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	suppressor of fused	41					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			central_nervous_system(4)|skin(2)|breast(1)	7		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ACGGAGAGTGCCGCCGCCTTT	0.483			D|F|S		medulloblastoma	medulloblastoma			Medulloblastoma_associated_with_Germline_SUFU_Mutation				T	104264032	C	T	104264032	2	4	43	1	0	0	0	0	0	0	0	1	15367	747	26	2		2	SUFU	10	104264032	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1501720	104264032	31270715	323	36076											
DCLRE1A	9937	broad.mit.edu	37	chr10	115609826	115609826	+	Frame_Shift_Del	DEL	T	T	-													ttcagtaagggaccatgtcgTtttttaaaaaaaccacagct							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:115609825_115609825GT>G	uc001law.2	-	1	1957	c.1039_1039AC>C	c.(1039-1041)cgafs	p.R347fs		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	Homo sapiens DNA cross-link repair 1A (DCLRE1A), mRNA.	347					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GGACCATGTCGTTTTTTAAAA	0.408								Other identified genes with known or suspected DNA repair function					-	115609826	T	-	115609826	7	5	43	1	0	1	0	1	0	0	0	0	4294	1722	60	0	2116	0	DCLRE1A	10	115609826	Frame_Shift_Del	DEL	T	TCGA-BR-6802-01A-11D-1882-08	11345794	115609826	19924921	324	36077											
TRUB1	142940	broad.mit.edu	37	chr10	116730192	116730192	+	Frame_Shift_Del	DEL	C	C	-													ctggaaatataatgcaagtgCcccccctgtaagttcaatta							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:116730191_116730191GC>G	uc001lcd.3	+	4	649	c.588_588GC>G	c.(586-588)gtgfs	p.V196fs	TRUB1_uc010qsl.2_Frame_Shift_Del_p.V98fs|U6_uc021pzh.1_5'Flank	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	Homo sapiens TruB pseudouridine (psi) synthase homolog 1 (E. coli) (TRUB1), mRNA.	196					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGT	0.318													-	116730192	C	-	116730192	7	5	43	1	0	1	0	1	0	0	0	0	16599	739	26	0	607	0	TRUB1	10	116730192	Frame_Shift_Del	DEL	C	TCGA-BR-6802-01A-11D-1882-08	1120366	116730192	18804555	325	36078											
WDR11	55717	broad.mit.edu	37	chr10	122625206	122625206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatggttgtataactttacGtgttcgaagatcttataata	7	4	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:122625206G>A	uc010qtf.1	+	7	1182	c.944G>A	c.(943-945)CGT>CAT	p.R315H	WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_Translation_Start_Site	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	315						integral to membrane					0						ATAACTTTACGTGTTCGAAGA	0.274													A	122625206	G	A	122625206	3	1	43	1	0	0	0	0	1	0	0	0	17270	1145	40	1	970	1	WDR11	10	122625206	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	5895014	122625206	12909541	326	36079											
HMX2	3167	broad.mit.edu	37	chr10	124908090	124908090	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggaaggcgcccgcctgcTtctgcccagaccagcacggc	13	17	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:124908090T>G	uc001lhc.1	+	1	453	c.196T>G	c.(196-198)TTC>GTC	p.F66V		NM_005519	NP_005510	A2RU54	HMX2_HUMAN	H6 family homeobox 2	66					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		GCCCGCCTGCTTCTGCCCAGA	0.697													G	124908090	T	G	124908090	3	3	43	1	0	0	0	0	1	0	0	0	7247	1609	56	5	198	5	HMX2	10	124908090	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	2282884	124908090	10626657	327	36080											
BUB3	9184	broad.mit.edu	37	chr10	124921806	124921806	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttgagtatttggacccaAgccctgaggtacagaagaag	12	8	0	4			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:124921806A>C	uc001lhe.2	+	6	873	c.631A>C	c.(631-633)AGC>CGC	p.S211R	BUB3_uc009yah.2_Missense_Mutation_p.S163R|BUB3_uc001lhf.3_Missense_Mutation_p.S211R|BUB3_uc001lhd.2_Missense_Mutation_p.S211R|BUB3_uc010qud.1_Missense_Mutation_p.S131R	NM_004725	NP_004716	O43684	BUB3_HUMAN	budding uninhibited by benzimidazoles 3 isoform	211					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			ovary(1)	1		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				TTTGGACCCAAGCCCTGAGGT	0.403													C	124921806	A	C	124921806	3	2	43	1	0	0	0	0	1	0	0	0	1572	72	3	5	649	5	BUB3	10	124921806	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	13716	124921806	10612941	328	36081											
C10orf90	118611	broad.mit.edu	37	chr10	128193320	128193320	+	Frame_Shift_Del	DEL	G	G	-													cccacaccagggcgcgggctGgggggcccacgcgtctggcc							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr10:128193319_128193319TG>T	uc010qum.2	-	3	771	c.741_741CA>A	c.(739-741)ccafs	p.P247fs	C10orf90_uc001ljp.3_Frame_Shift_Del_p.P103fs|C10orf90_uc001ljq.3_Frame_Shift_Del_p.P150fs|C10orf90_uc009yao.2_Frame_Shift_Del_p.P247fs|C10orf90_uc001ljs.1_Frame_Shift_Del_p.P103fs	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA.	150										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GGGCGCGGGCTGGGGGGCCCA	0.697											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	128193320	G	-	128193320	7	5	43	1	0	1	0	1	0	0	0	0	1623	1348	47	0	1678	0	C10orf90	10	128193320	Frame_Shift_Del	DEL	G	TCGA-BR-6802-01A-11D-1882-08	3271514	128193320	7341427	329	36082											
B4GALNT4	338707	broad.mit.edu	37	chr11	373264	373264	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggacgagagccctgctgcTgcccagcttgtggcctttgt	13	13	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:373264T>C	uc001lpb.2	+	6	618	c.609T>C	c.(607-609)GCT>GCC	p.A203A		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	203	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCTGCTGCTGCCCAGCTTG	0.632													C	373264	T	C	373264	2	2	43	1	0	0	0	0	0	0	0	1	1269	1567	55	3		3	B4GALNT4	11	373264	Silent	SNP	T	TCGA-BR-6802-01A-11D-1882-08		373264	134633252	330	36083											
PKP3	11187	broad.mit.edu	37	chr11	399184	399184	+	Frame_Shift_Del	DEL	A	A	-													agcaggatgatgagcttcgcAaaaatgtcacaggtgctgcc							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:399184delA	uc001lpc.2	+	5	1337	c.1261delA	c.(1261-1263)AAAfs	p.K421fs		NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	plakophilin 3	421	ARM 3.				cell adhesion	desmosome|nucleus	binding			skin(1)	1		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGAGCTTCGCAAAAATGTCAC	0.353													-	399184	A	-	399184	7	5	43	1	0	1	0	1	0	0	0	0	11986	131	5	0	1279	0	PKP3	11	399184	Frame_Shift_Del	DEL	A	TCGA-BR-6802-01A-11D-1882-08	25920	399184	134607332	331	36084											
MUC5B	727897	broad.mit.edu	37	chr11	1267503	1267503	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctcctccactccggggacGacctggatcctcacagagct	9	18	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:1267503G>A	uc009ycr.1	+	49	11268	c.11142G>A	c.(11140-11142)ACG>ACA	p.T3714T	MUC5B_uc001ltb.2_Silent_p.T3134T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	3131	7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCGGGGACGACCTGGATCC	0.657													A	1267503	G	A	1267503	2	1	43	1	0	0	0	0	0	0	0	1	9979	1045	37	1		1	MUC5B	11	1267503	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	868319	1267503	133739013	332	36085											
TRPM5	29850	broad.mit.edu	37	chr11	2428999	2428999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagtcacctgaacatggCgatgagcaggttcatgagca	14	8	2	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:2428999C>T	uc001lwm.3	-	19	2935	c.2926G>A	c.(2926-2928)GCC>ACC	p.A976T	TRPM5_uc010qxl.1_Missense_Mutation_p.A976T|TRPM5_uc009ydn.2_Missense_Mutation_p.A978T	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	976	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTGAACATGGCGATGAGCAGG	0.602													T	2428999	C	T	2428999	3	4	43	1	0	0	0	0	1	0	0	0	16586	768	27	1	595	1	TRPM5	11	2428999	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1161496	2428999	132577517	333	36086											
OR52I2	143502	broad.mit.edu	37	chr11	4608096	4608096	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatacatcatttgtgcatTaacaggaaaaaagtctcact	5	9	3	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:4608096T>C	uc010qyh.1	+	1	54	c.54T>C	c.(52-54)ATT>ATC	p.I18I		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTTGTGCATTAACAGGAAAA	0.448													C	4608096	T	C	4608096	2	2	43	1	0	0	0	0	0	0	0	1	11121	1742	61	3		3	OR52I2	11	4608096	Silent	SNP	T	TCGA-BR-6802-01A-11D-1882-08	2179097	4608096	130398420	334	36087											
OR51F2	119694	broad.mit.edu	37	chr11	4843262	4843262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatccttggtctgtttgCgcttttgtccactacagggt	10	11	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:4843262C>T	uc010qyn.1	+	1	647	c.647C>T	c.(646-648)GCG>GTG	p.A216V		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F,	216	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTCTGTTTGCGCTTTTGTCC	0.478													T	4843262	C	T	4843262	3	4	43	1	0	0	0	0	1	0	0	0	11097	768	27	1	649	1	OR51F2	11	4843262	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	235166	4843262	130163254	335	36088											
UBQLN3	50613	broad.mit.edu	37	chr11	5529610	5529610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcctcggggagaggctgGcctgacccaggctcctgaga	15	13	0	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:5529610G>A	uc001may.1	-	2	1265	c.1179C>T	c.(1177-1179)GGC>GGT	p.G393G	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	393										ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGAGGCTGGCCTGACCCAG	0.577													A	5529610	G	A	5529610	2	1	43	1	0	0	0	0	0	0	0	1	16895	1190	42	2		2	UBQLN3	11	5529610	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	686348	5529610	129476906	336	36089											
OR56A4	120793	broad.mit.edu	37	chr11	6023985	6023985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggaccttggggatgaCggtgaggcagagcacgatgt	18	8	0	3	rs146498967		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:6023985C>T	uc010qzv.1	-	1	394	c.394G>A	c.(394-396)GTC>ATC	p.V132I		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A,	80	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGGGGATGACGGTGAGGCAG	0.567													T	6023985	C	T	6023985	3	4	43	1	0	0	0	0	1	0	0	0	11135	536	19	1	705	1	OR56A4	11	6023985	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	494375	6023985	128982531	337	36090											
OR2AG1	144125	broad.mit.edu	37	chr11	6806831	6806831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacacttgctgaaggtggCctgtgctgatacctccagat	10	13	0	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:6806831C>T	uc001mer.1	+	1	563	c.563C>T	c.(562-564)GCC>GTC	p.A188V		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG,	188	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTGAAGGTGGCCTGTGCTGAT	0.488													T	6806831	C	T	6806831	3	4	43	1	0	0	0	0	1	0	0	0	10984	739	26	2	565	2	OR2AG1	11	6806831	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	782846	6806831	128199685	338	36091											
ZNF214	7761	broad.mit.edu	37	chr11	7021534	7021534	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccctgtatggactctctgAtgaatgcgaagatctgagct	10	10	2	4			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:7021534A>G	uc001mfa.2	-	3	1683	c.1380T>C	c.(1378-1380)CAT>CAC	p.H460H	ZNF214_uc010ray.1_Silent_p.H460H|ZNF214_uc009yfh.1_Silent_p.H460H	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	460	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GGACTCTCTGATGAATGCGAA	0.418													G	7021534	A	G	7021534	2	3	43	1	0	0	0	0	0	0	0	1	17767	330	12	3		3	ZNF214	11	7021534	Silent	SNP	A	TCGA-BR-6802-01A-11D-1882-08	214703	7021534	127984982	339	36092											
ARNTL	406	broad.mit.edu	37	chr11	13393740	13393740	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcttctgcacaatccacaGcacaggctatttgaaaagct	7	11	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:13393740G>T	uc001mkr.2	+	13	1259	c.851G>T	c.(850-852)AGC>ATC	p.S284I	ARNTL_uc001mko.2_Missense_Mutation_p.S240I|ARNTL_uc001mkp.2_Missense_Mutation_p.S283I|ARNTL_uc001mkq.2_Missense_Mutation_p.S283I|ARNTL_uc001mks.2_Missense_Mutation_p.S241I|ARNTL_uc001mkt.2_Missense_Mutation_p.S284I|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Intron|ARNTL_uc001mkv.1_Missense_Mutation_p.S241I|ARNTL_uc001mkw.2_Missense_Mutation_p.S241I|ARNTL_uc001mkx.2_Missense_Mutation_p.S282I	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	284					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0				Epithelial(150;0.0243)		ACAATCCACAGCACAGGCTAT	0.512													T	13393740	G	T	13393740	3	4	43	1	0	0	0	0	1	0	0	0	967	971	34	5	897	5	ARNTL	11	13393740	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	6372206	13393740	121612776	340	36093											
PIK3C2A	5286	broad.mit.edu	37	chr11	17190440	17190440	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatggtctaatacctccacAttatccaccttaggcttact	4	13	2	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:17190440A>G	uc001mmq.3	-	1	915	c.849T>C	c.(847-849)AAT>AAC	p.N283N	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Intron|PIK3C2A_uc001mmr.3_RNA|PIK3C2A_uc010rcx.1_Silent_p.N283N|PIK3C2A_uc009ygv.1_Silent_p.N283N	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	283					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	ATACCTCCACATTATCCACCT	0.393													G	17190440	A	G	17190440	2	3	43	1	0	0	0	0	0	0	0	1	11909	214	8	3		3	PIK3C2A	11	17190440	Silent	SNP	A	TCGA-BR-6802-01A-11D-1882-08	3796700	17190440	117816076	341	36094											
E2F8	79733	broad.mit.edu	37	chr11	19251862	19251862	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttgggaagggtgcagaattCtgagaactctcagctggtaa	13	7	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:19251862C>A	uc001mpm.2	-	9	1806	c.1284G>T	c.(1282-1284)CAG>CAT	p.Q428H	E2F8_uc009yhv.2_Intron|E2F8_uc001mpn.3_Missense_Mutation_p.Q428H	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	428					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						GTGCAGAATTCTGAGAACTCT	0.418													A	19251862	C	A	19251862	3	1	43	1	0	0	0	0	1	0	0	0	4873	912	32	5	1339	5	E2F8	11	19251862	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	2061422	19251862	115754654	342	36095											
NELL1	4745	broad.mit.edu	37	chr11	20907060	20907060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaatttatggcttggccagCgcaaccaaaagcatggctta	9	10	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:20907060C>T	uc001mqe.2	+	5	730	c.577C>T	c.(577-579)CGC>TGC	p.R193C	NELL1_uc001mqf.2_Missense_Mutation_p.R193C|NELL1_uc009yid.2_Missense_Mutation_p.R221C|NELL1_uc010rdo.1_Missense_Mutation_p.R136C|NELL1_uc010rdp.1_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	193	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						GCTTGGCCAGCGCAACCAAAA	0.398													T	20907060	C	T	20907060	3	4	43	1	0	0	0	0	1	0	0	0	10333	768	27	1	595	1	NELL1	11	20907060	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1655198	20907060	114099456	343	36096											
SLC17A6	57084	broad.mit.edu	37	chr11	22387116	22387116	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttggaatggtctggtacAtgttttggcttttggtgtct	13	5	2	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:22387116A>G	uc001mqk.2	+	7	1185	c.772A>G	c.(772-774)ATG>GTG	p.M258V		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	258	Helical; (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						GGTCTGGTACATGTTTTGGCT	0.403													G	22387116	A	G	22387116	3	3	43	1	0	0	0	0	1	0	0	0	14421	217	8	3	798	3	SLC17A6	11	22387116	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	1480056	22387116	112619400	344	36097											
NAT10	55226	broad.mit.edu	37	chr11	34133754	34133754	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatcctgggcaataccttcgGcatgtgtgtgctgcaggtgg	15	9	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:34133754G>C	uc001mvk.2	+	4	600	c.356G>C	c.(355-357)GGC>GCC	p.G119A	NAT10_uc010ren.1_Missense_Mutation_p.G47A	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 isoform a	119						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				AATACCTTCGGCATGTGTGTG	0.512													C	34133754	G	C	34133754	3	2	43	1	0	0	0	0	1	0	0	0	10174	1203	42	5	366	5	NAT10	11	34133754	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	11746638	34133754	100872762	345	36098											
TRAF6	7189	broad.mit.edu	37	chr11	36520142	36520142	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaattgtctggaaatagttgAttttccagcagtatttcatt	7	5	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:36520142A>T	uc001mwr.1	-	4	685	c.345T>A	c.(343-345)AAT>AAA	p.N115K	TRAF6_uc001mws.1_Missense_Mutation_p.N115K	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6	115	Interaction with TAX1BP1.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)				GAAATAGTTGATTTTCCAGCA	0.353													T	36520142	A	T	36520142	3	4	43	1	0	0	0	0	1	0	0	0	16442	330	12	5	1243	5	TRAF6	11	36520142	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	2386388	36520142	98486374	346	36099											
PTPRJ	5795	broad.mit.edu	37	chr11	48157816	48157816	+	Frame_Shift_Del	DEL	G	G	-													tccagaagtggaccacgtctGgggggaccccaactccactg							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:48157815_48157815TG>T	uc001ngp.4	+	8	2195	c.1840_1840TG>T	c.(1840-1842)tggfs	p.W614fs	PTPRJ_uc010rhr.1_Frame_Shift_Del_p.W59fs	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	614	Fibronectin type-III 6.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGACCACGTCTGGGGGGACCC	0.517													-	48157816	G	-	48157816	7	5	43	1	0	1	0	1	0	0	0	0	12804	1357	47	0	1884	0	PTPRJ	11	48157816	Frame_Shift_Del	DEL	G	TCGA-BR-6802-01A-11D-1882-08	11637674	48157816	86848700	347	36100											
MED19	219541	broad.mit.edu	37	chr11	57472562	57472562	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgttatcatgggaaccAggcagatcaatcatccctgg	10	11	3	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:57472562A>G	uc001nla.1	-	2	379	c.357T>C	c.(355-357)CCT>CCC	p.P119P	MED19_uc001nlb.2_Silent_p.P119P	NM_153450	NP_703151	A0JLT2	MED19_HUMAN	mediator complex subunit 19	119					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.P119L(1)		ovary(2)	2						CATGGGAACCAGGCAGATCAA	0.493													G	57472562	A	G	57472562	2	3	43	1	0	0	0	0	0	0	0	1	9437	175	7	3		3	MED19	11	57472562	Silent	SNP	A	TCGA-BR-6802-01A-11D-1882-08	9314746	57472562	77533954	348	36101											
TMEM132A	54972	broad.mit.edu	37	chr11	60697990	60697990	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcttccccaggatcaaggTgaagaaggggctgcatgtga	13	9	2	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:60697990T>C	uc001nqj.2	+	5	1068	c.875T>C	c.(874-876)GTG>GCG	p.V292A	TMEM132A_uc001nqi.2_Missense_Mutation_p.V292A|TMEM132A_uc001nqk.2_Missense_Mutation_p.V305A|TMEM132A_uc001nql.1_Missense_Mutation_p.V305A	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	292	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						AGGATCAAGGTGAAGAAGGGG	0.592													C	60697990	T	C	60697990	3	2	43	1	0	0	0	0	1	0	0	0	16042	1696	59	3	893	3	TMEM132A	11	60697990	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	3225428	60697990	74308526	349	36102											
DDB1	1642	broad.mit.edu	37	chr11	61071397	61071397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcactgagcgcataaggtcGcccaccaggatgaagtcgcc	12	13	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:61071397G>A	uc001nrc.3	-	22	2998	c.2772C>T	c.(2770-2772)GGC>GGT	p.G924G	DDB1_uc010rle.1_Silent_p.G235G|DDB1_uc010rlf.1_Silent_p.G924G	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	924	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						GCATAAGGTCGCCCACCAGGA	0.542								NER					A	61071397	G	A	61071397	2	1	43	1	0	0	0	0	0	0	0	1	4323	1074	38	1		1	DDB1	11	61071397	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	373407	61071397	73935119	350	36103											
DAK	26007	broad.mit.edu	37	chr11	61106764	61106764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaagaactacactggggatCggctcaacttcggcctggcc	12	12	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:61106764C>T	uc001nre.2	+	5	600	c.343C>T	c.(343-345)CGG>TGG	p.R115W	DDB1_uc010rlf.1_Intron|DAK_uc009ynm.1_Missense_Mutation_p.R45W	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	115	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0						CACTGGGGATCGGCTCAACTT	0.642													T	61106764	C	T	61106764	3	4	43	1	0	0	0	0	1	0	0	0	4228	875	31	1	357	1	DAK	11	61106764	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	35367	61106764	73899752	351	36104											
FLRT1	23769	broad.mit.edu	37	chr11	63884259	63884259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattgaggaggacgccttcGccgacagcaaacagctcaag	12	12	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:63884259G>A	uc001nyi.1	+	2	861	c.520G>A	c.(520-522)GCC>ACC	p.A174T	MACROD1_uc001nyh.2_Intron	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein	146	Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity				0						GGACGCCTTCGCCGACAGCAA	0.642													A	63884259	G	A	63884259	3	1	43	1	0	0	0	0	1	0	0	0	5938	1087	38	1	522	1	FLRT1	11	63884259	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	2777495	63884259	71122257	352	36105											
NRXN2	9379	broad.mit.edu	37	chr11	64428414	64428414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccggaggtctcggctacGcccatctatgaagaggtccc	12	15	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:64428414G>A	uc001oar.2	-	11	2435	c.1996C>T	c.(1996-1998)CGT>TGT	p.R666C	NRXN2_uc001oas.2_Missense_Mutation_p.R635C|NRXN2_uc001oaq.2_Missense_Mutation_p.R333C	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:Variant_position_missing_in_P58401_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						TCTCGGCTACGCCCATCTATG	0.692													A	64428414	G	A	64428414	3	1	43	1	0	0	0	0	1	0	0	0	10666	1087	38	1	3467	1	NRXN2	11	64428414	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	544155	64428414	70578102	353	36106											
TIGD3	220359	broad.mit.edu	37	chr11	65124144	65124144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagctcttgcctctggccGcctctagcaccacgcctccc	8	19	3	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:65124144G>A	uc001odo.3	+	2	1028	c.865G>A	c.(865-867)GCC>ACC	p.A289T		NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	289	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						GCCTCTGGCCGCCTCTAGCAC	0.652													A	65124144	G	A	65124144	3	1	43	1	0	0	0	0	1	0	0	0	15894	1087	38	1	867	1	TIGD3	11	65124144	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	695730	65124144	69882372	354	36107											
EFEMP2	30008	broad.mit.edu	37	chr11	65637592	65637592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcccagcccagcctcacCaacacaggagcggttgttag	11	15	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:65637592C>T	uc001ofy.3	-	6	801	c.607G>A	c.(607-609)GAT>AAT	p.D203N	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.D203N	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	203	EGF-like 4; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		CCAGCCTCACCAACACAGGAG	0.682													T	65637592	C	T	65637592	3	4	43	1	0	0	0	0	1	0	0	0	4942	608	21	4	748	4	EFEMP2	11	65637592	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	513448	65637592	69368924	355	36108											
CTSF	8722	broad.mit.edu	37	chr11	66332220	66332220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctagggcctcacctgcatgCcaaaggcattgatggccacg	12	13	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:66332220C>T	uc001oip.2	-	10	1313	c.1223G>A	c.(1222-1224)GGC>GAC	p.G408D		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	cathepsin F precursor	408					proteolysis	lysosome	cysteine-type endopeptidase activity				0						CACCTGCATGCCAAAGGCATT	0.632													T	66332220	C	T	66332220	3	4	43	1	0	0	0	0	1	0	0	0	4034	739	26	2	247	2	CTSF	11	66332220	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	694628	66332220	68674296	356	36109											
RCE1	9986	broad.mit.edu	37	chr11	66613485	66613485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctgctccagcccctcacGgaccccaagctctacggcag	8	19	3	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:66613485G>A	uc001ojk.1	+	8	953	c.909G>A	c.(907-909)ACG>ACA	p.T303T	RCE1_uc001ojl.1_Silent_p.T199T	NM_005133	NP_005124	Q9Y256	FACE2_HUMAN	prenyl protein peptidase RCE1 isoform 1	303	Helical; (Potential).				proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			ovary(1)|breast(1)	2						AGCCCCTCACGGACCCCAAGC	0.647													A	66613485	G	A	66613485	2	1	43	1	0	0	0	0	0	0	0	1	13176	1103	39	1		1	RCE1	11	66613485	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	281265	66613485	68393031	357	36110											
RHOD	29984	broad.mit.edu	37	chr11	66834258	66834258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttctaccctgacgccagCgtcctgctgctttgcttcga	9	15	1	1	rs144971798	by1000genomes	TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:66834258C>T	uc001ojv.2	+	3	355	c.270C>T	c.(268-270)AGC>AGT	p.S90S		NM_014578	NP_055393	O00212	RHOD_HUMAN	ras homolog D precursor	90					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0						CTGACGCCAGCGTCCTGCTGC	0.612													T	66834258	C	T	66834258	2	4	43	1	0	0	0	0	0	0	0	1	13337	767	27	1		1	RHOD	11	66834258	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	220773	66834258	68172258	358	36111											
RHOD	29984	broad.mit.edu	37	chr11	66838974	66838974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggctcggctccatgacaaCgtccacgccgtcttccagga	10	16	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:66838974C>T	uc001ojv.2	+	5	619	c.534C>T	c.(532-534)AAC>AAT	p.N178N		NM_014578	NP_055393	O00212	RHOD_HUMAN	ras homolog D precursor	178					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0						TCCATGACAACGTCCACGCCG	0.677													T	66838974	C	T	66838974	2	4	43	1	0	0	0	0	0	0	0	1	13337	535	19	1		1	RHOD	11	66838974	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	4716	66838974	68167542	359	36112											
CARNS1	57571	broad.mit.edu	37	chr11	67187277	67187277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaatctgtgctgtggtgtgtCggacacagggtgataggcca	16	7	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:67187277C>T	uc009yrp.2	+	6	1164	c.712C>T	c.(712-714)CGG>TGG	p.R238W	PPP1CA_uc001okx.1_Intron|CARNS1_uc010rpr.1_Missense_Mutation_p.R361W|CARNS1_uc001olc.3_Missense_Mutation_p.R377W	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	ATP-grasp domain containing 1	238					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding				0						TGTGGTGTGTCGGACACAGGG	0.652													T	67187277	C	T	67187277	3	4	43	1	0	0	0	0	1	0	0	0	2656	875	31	1	1103	1	CARNS1	11	67187277	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	348303	67187277	67819239	360	36113											
PPFIA1	8500	broad.mit.edu	37	chr11	70189942	70189942	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcgggcaggccgacgcGcacacactagccatgatgct	12	16	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:70189942G>A	uc001opo.2	+	15	2073	c.1875G>A	c.(1873-1875)GCG>GCA	p.A625A	PPFIA1_uc001opn.1_Silent_p.A625A|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	625	Potential.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AGGCCGACGCGCACACACTAG	0.562													A	70189942	G	A	70189942	2	1	43	1	0	0	0	0	0	0	0	1	12309	1074	38	1		1	PPFIA1	11	70189942	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	3002665	70189942	64816574	361	36114											
NUMA1	4926	broad.mit.edu	37	chr11	71724190	71724190	+	Frame_Shift_Del	DEL	C	C	-													aggttggcccgctcacccagCccccggttctcctctgccag							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:71724189_71724189GC>G	uc001orl.1	-	14	4532	c.4360_4360GC>C	c.(4360-4362)ctgfs	p.L1454fs	NUMA1_uc009ysw.1_Frame_Shift_Del_p.L1017fs|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Frame_Shift_Del_p.L1454fs|NUMA1_uc001orn.2_Frame_Shift_Del_p.L1017fs|NUMA1_uc009ysx.1_Frame_Shift_Del_p.L1454fs|NUMA1_uc001oro.1_Frame_Shift_Del_p.L1454fs	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1454					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CGCTCACCCAGCCCCCGGTTC	0.627			T	RARA	APL								-	71724190	C	-	71724190	7	5	43	1	0	1	0	1	0	0	0	0	10750	726	26	0	2040	0	NUMA1	11	71724190	Frame_Shift_Del	DEL	C	TCGA-BR-6802-01A-11D-1882-08	1534248	71724190	63282326	362	36115											
FOLH1B	219595	broad.mit.edu	37	chr11	89424639	89424639	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acttttttctgcagtaaaaaAttttacagaaattgcttcca	4	7	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:89424639A>C	uc001pda.2	+	12	1515	c.989A>C	c.(988-990)AAT>ACT	p.N330T		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	330					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6						GCAGTAAAAAATTTTACAGAA	0.274													C	89424639	A	C	89424639	3	2	43	1	0	0	0	0	1	0	0	0	5980	101	4	5	1027	5	FOLH1B	11	89424639	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	17700449	89424639	45581877	363	36116											
KIAA1826	84437	broad.mit.edu	37	chr11	105880396	105880396	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagttgcaagcgttctcGctcaagttttaacttctctg	7	11	3	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:105880396G>A	uc001piy.2	-	3	1077	c.904C>T	c.(904-906)CGA>TGA	p.R302*	KIAA1826_uc001piz.2_Nonsense_Mutation_p.R302*	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	hypothetical protein LOC84437	302	Potential.					nucleus				breast(1)	1		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)		AAGCGTTCTCGCTCAAGTTTT	0.413													A	105880396	G	A	105880396	4	1	43	1	0	0	0	0	0	1	0	0	8260	1095	38	1	137	1	KIAA1826	11	105880396	Nonsense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	16455757	105880396	29126120	364	36117											
ATM	472	broad.mit.edu	37	chr11	108164110	108164110	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctatatcacgattaagcTtttagatccttttcctgacc	4	12	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:108164110T>C	uc001pkb.1	+	31	5067	c.4682T>C	c.(4681-4683)CTT>CCT	p.L1561P	ATM_uc009yxr.1_Missense_Mutation_p.L1561P|ATM_uc001pke.1_Missense_Mutation_p.L213P|ATM_uc001pkf.2_Intron	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1561					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACGATTAAGCTTTTAGATCCT	0.289			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			C	108164110	T	C	108164110	3	2	43	1	0	0	0	0	1	0	0	0	1109	1609	56	3	4800	3	ATM	11	108164110	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	2283714	108164110	26842406	365	36118											
PHLDB1	23187	broad.mit.edu	37	chr11	118516454	118516454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccccttctctccccagcGcgagtggtctggacatgggg	12	15	2	0	rs137998974		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:118516454G>A	uc001ptr.1	+	18	3771	c.3418G>A	c.(3418-3420)GCG>ACG	p.A1140T	PHLDB1_uc001pts.2_Missense_Mutation_p.A1140T|PHLDB1_uc001ptt.2_Missense_Mutation_p.A1093T|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Missense_Mutation_p.A955T|PHLDB1_uc001ptw.1_Missense_Mutation_p.A495T|PHLDB1_uc009zai.1_Missense_Mutation_p.A176T|PHLDB1_uc001ptx.1_Missense_Mutation_p.A176T|PHLDB1_uc010ryi.1_3'UTR	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	1140											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCTCCCCAGCGCGAGTGGTCT	0.597													A	118516454	G	A	118516454	3	1	43	1	0	0	0	0	1	0	0	0	11851	1101	38	1	3480	1	PHLDB1	11	118516454	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	10352344	118516454	16490062	366	36119											
TRIM29	23650	broad.mit.edu	37	chr11	120008403	120008403	+	Frame_Shift_Del	DEL	C	C	-													aacgggtggcttcttggcagCccccagctggagccctgcgt							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:120008402_120008402GC>G	uc001pwz.3	-	0	462	c.338_338GC>C	c.(337-339)gctfs	p.A113fs	TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	113					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CTTCTTGGCAGCCCCCAGCTG	0.597													-	120008403	C	-	120008403	7	5	43	1	0	1	0	1	0	0	0	0	16500	739	26	0	1465	0	TRIM29	11	120008403	Frame_Shift_Del	DEL	C	TCGA-BR-6802-01A-11D-1882-08	1491949	120008403	14998113	367	36120											
POU2F3	25833	broad.mit.edu	37	chr11	120176450	120176450	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacctgagcttcaagaacaTgtgcaagctcaagcccctgc	8	14	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:120176450T>C	uc001pxc.2	+	8	827	c.725T>C	c.(724-726)ATG>ACG	p.M242T	POU2F3_uc010rzk.1_Missense_Mutation_p.M196T|POU2F3_uc010rzl.1_Missense_Mutation_p.M172T|POU2F3_uc001pxe.1_Missense_Mutation_p.M27T	NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN	POU transcription factor	242	POU-specific.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			ovary(1)|skin(1)	2		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TTCAAGAACATGTGCAAGCTC	0.582													C	120176450	T	C	120176450	3	2	43	1	0	0	0	0	1	0	0	0	12273	1464	51	3	755	3	POU2F3	11	120176450	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	168047	120176450	14830066	368	36121											
GRIK4	2900	broad.mit.edu	37	chr11	120833350	120833350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctcactcagattgggggCctgctggacaccaagggcta	12	12	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:120833350C>T	uc001pxn.2	+	18	2513	c.2226C>T	c.(2224-2226)GGC>GGT	p.G742G	GRIK4_uc009zav.1_Silent_p.G742G|GRIK4_uc009zaw.1_Silent_p.G742G|GRIK4_uc009zax.1_Silent_p.G742G	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	742	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	AGATTGGGGGCCTGCTGGACA	0.557													T	120833350	C	T	120833350	2	4	43	1	0	0	0	0	0	0	0	1	6776	726	26	2		2	GRIK4	11	120833350	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	656900	120833350	14173166	369	36122											
TECTA	7007	broad.mit.edu	37	chr11	120976660	120976660	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcttctttggcgttccttAccgcactgtctatgtaagtg	8	10	3	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:120976660A>G	uc010rzo.1	+	2	185	c.185A>G	c.(184-186)TAC>TGC	p.Y62C		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	62					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGCGTTCCTTACCGCACTGTC	0.428													G	120976660	A	G	120976660	3	3	43	1	0	0	0	0	1	0	0	0	15744	391	14	3	191	3	TECTA	11	120976660	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	143310	120976660	14029856	370	36123											
SORL1	6653	broad.mit.edu	37	chr11	121448108	121448108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgatgaagccaactgtacCggtcagtacttcctggactc	9	12	2	2	rs138407235		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:121448108C>T	uc001pxx.2	+	25	3659	c.3579C>T	c.(3577-3579)ACC>ACT	p.T1193T	SORL1_uc010rzp.1_Silent_p.T39T	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1193	Extracellular (Potential).|LDL-receptor class A 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCAACTGTACCGGTCAGTACT	0.502													T	121448108	C	T	121448108	2	4	43	1	0	0	0	0	0	0	0	1	14934	666	23	1		1	SORL1	11	121448108	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	471448	121448108	13558408	371	36124											
OR10G8	219869	broad.mit.edu	37	chr11	123900532	123900532	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccaacctgtcgttcattgAcatgtggttctccactgtca	7	13	3	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:123900532A>G	uc001pzp.1	+	1	203	c.203A>G	c.(202-204)GAC>GGC	p.D68G		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	68	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCGTTCATTGACATGTGGTTC	0.532													G	123900532	A	G	123900532	3	3	43	1	0	0	0	0	1	0	0	0	10903	275	10	3	205	3	OR10G8	11	123900532	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	2452424	123900532	11105984	372	36125											
KIRREL3	84623	broad.mit.edu	37	chr11	126294613	126294613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccatcctgcttgccgctGctgctgacgctgctgtcaca	10	15	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:126294613G>A	uc001qea.2	-	17	2560	c.2199C>T	c.(2197-2199)AGC>AGT	p.S733S	KIRREL3_uc001qeb.2_Silent_p.S721S|ST3GAL4_uc001qdx.1_Intron	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	733	Cytoplasmic (Potential).|Ser-rich.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GCTTGCCGCTGCTGCTGACGC	0.612													A	126294613	G	A	126294613	2	1	43	1	0	0	0	0	0	0	0	1	8326	1310	46	2		2	KIRREL3	11	126294613	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	2394081	126294613	8711903	373	36126											
ACAD8	27034	broad.mit.edu	37	chr11	134131749	134131749	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcagtggccttgtgctccAtggccaagctctttgctaca	10	12	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr11:134131749A>G	uc001qhk.2	+	9	1118	c.1057A>G	c.(1057-1059)ATG>GTG	p.M353V	ACAD8_uc010scp.1_RNA|ACAD8_uc010scq.1_Missense_Mutation_p.M276V|ACAD8_uc001qhl.2_Missense_Mutation_p.M226V	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	acyl-Coenzyme A dehydrogenase family, member 8	353					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding				0	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		CTTGTGCTCCATGGCCAAGCT	0.587													G	134131749	A	G	134131749	3	3	43	1	0	0	0	0	1	0	0	0	110	217	8	3	1091	3	ACAD8	11	134131749	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	7837136	134131749	874767	374	36127											
WNK1	65125	broad.mit.edu	37	chr12	1005427	1005427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagatgtgccagagagtgCccacaaaactactgcctcag	9	12	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:1005427C>T	uc001qio.3	+	24	6281	c.5774C>T	c.(5773-5775)GCC>GTC	p.A1925V	WNK1_uc001qip.3_Missense_Mutation_p.A1677V|WNK1_uc001qir.3_Missense_Mutation_p.A1098V	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1925					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCAGAGAGTGCCCACAAAACT	0.498													T	1005427	C	T	1005427	3	4	43	1	0	0	0	0	1	0	0	0	17374	739	26	2	7370	2	WNK1	12	1005427	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08		1005427	132846468	375	36128											
NTF3	4908	broad.mit.edu	37	chr12	5603459	5603459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatggatcaaaggagtttgCcagaagactcgctcaattcc	9	10	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:5603459C>T	uc001qnl.3	+	1	162	c.79C>T	c.(79-81)CCA>TCA	p.P27S	NTF3_uc001qnk.3_Missense_Mutation_p.P40S	NM_002527	NP_002518	P20783	NTF3_HUMAN	neurotrophin 3 isoform 2 preproprotein	27					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			pancreas(1)	1						AAGGAGTTTGCCAGAAGACTC	0.413													T	5603459	C	T	5603459	3	4	43	1	0	0	0	0	1	0	0	0	10696	739	26	2	124	2	NTF3	12	5603459	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	4598032	5603459	128248436	376	36129											
NTF3	4908	broad.mit.edu	37	chr12	5603725	5603725	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacccccttggagcccccGcccttgtatctcatggagga	10	16	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:5603725G>A	uc001qnl.3	+	1	428	c.345G>A	c.(343-345)CCG>CCA	p.P115P	NTF3_uc001qnk.3_Silent_p.P128P	NM_002527	NP_002518	P20783	NTF3_HUMAN	neurotrophin 3 isoform 2 preproprotein	115					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			pancreas(1)	1						TGGAGCCCCCGCCCTTGTATC	0.612													A	5603725	G	A	5603725	2	1	43	1	0	0	0	0	0	0	0	1	10696	1074	38	1		1	NTF3	12	5603725	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	266	5603725	128248170	377	36130											
CD4	920	broad.mit.edu	37	chr12	6925311	6925311	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctttacagttgaaaagctgAcgggcagtggcgagctgtgg	15	8	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:6925311A>T	uc001qqv.1	+	6	942	c.697A>T	c.(697-699)ACG>TCG	p.T233S	CD4_uc009zez.1_3'UTR|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_Missense_Mutation_p.T54S|CD4_uc010sfk.1_5'UTR|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	CD4 antigen precursor	233	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)				TGAAAAGCTGACGGGCAGTGG	0.542													T	6925311	A	T	6925311	3	4	43	1	0	0	0	0	1	0	0	0	3014	275	10	5	715	5	CD4	12	6925311	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	1321586	6925311	126926584	378	36131											
CD163L1	283316	broad.mit.edu	37	chr12	7527225	7527225	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actccacagcccagcttttgAcacaccacgtgggcatcgct	8	16	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:7527225A>G	uc001qsy.2	-	13	3248	c.3222T>C	c.(3220-3222)TGT>TGC	p.C1074C	CD163L1_uc010sge.1_Silent_p.C1084C	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	1074	SRCR 10.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						CCAGCTTTTGACACACCACGT	0.607											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	7527225	A	G	7527225	2	3	43	1	0	0	0	0	0	0	0	1	2968	273	10	3		3	CD163L1	12	7527225	Silent	SNP	A	TCGA-BR-6802-01A-11D-1882-08	601914	7527225	126324670	379	36132											
CD163L1	283316	broad.mit.edu	37	chr12	7531592	7531592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgagcagatcaaacttgCttccatatttaaatgacacg	6	10	1	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:7531592C>T	uc001qsy.2	-	9	2379	c.2353G>A	c.(2353-2355)GCA>ACA	p.A785T	CD163L1_uc010sge.1_Missense_Mutation_p.A795T	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	785	SRCR 7.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						ATCAAACTTGCTTCCATATTT	0.318													T	7531592	C	T	7531592	3	4	43	1	0	0	0	0	1	0	0	0	2968	797	28	2	2052	2	CD163L1	12	7531592	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	4367	7531592	126320303	380	36133											
SLC2A14	144195	broad.mit.edu	37	chr12	7981304	7981304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaaagatactcactccgCgtagcattctcctctttttt	6	11	3	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:7981304C>T	uc001qtk.2	-	11	1534	c.741G>A	c.(739-741)ACG>ACA	p.T247T	SLC2A14_uc001qtl.2_Silent_p.T224T|SLC2A14_uc001qtm.2_Silent_p.T224T|SLC2A14_uc010sgg.1_Silent_p.T138T|SLC2A14_uc001qtn.2_Silent_p.T247T|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Silent_p.T262T	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	glucose transporter 14	247	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			ovary(1)	1				Kidney(36;0.0883)		ACTCACTCCGCGTAGCATTCT	0.423													T	7981304	C	T	7981304	2	4	43	1	0	0	0	0	0	0	0	1	14543	755	27	1		1	SLC2A14	12	7981304	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	449712	7981304	125870591	381	36134											
GOLT1B	51026	broad.mit.edu	37	chr12	21665273	21665273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttattagaagagtgccagTccttggatccctcctaaatt	7	10	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:21665273T>C	uc001rez.2	+	4	500	c.341T>C	c.(340-342)GTC>GCC	p.V114A	GOLT1B_uc009zis.2_RNA|GOLT1B_uc009zit.2_RNA|GOLT1B_uc009ziu.2_RNA	NM_016072	NP_057156	Q9Y3E0	GOT1B_HUMAN	golgi transport 1 homolog B	114	Cytoplasmic (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	endoplasmic reticulum|Golgi membrane|integral to membrane	signal transducer activity				0						AGAGTGCCAGTCCTTGGATCC	0.338													C	21665273	T	C	21665273	3	2	43	1	0	0	0	0	1	0	0	0	6571	1667	58	3	355	3	GOLT1B	12	21665273	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	13683969	21665273	112186622	382	36135											
ABCC9	10060	broad.mit.edu	37	chr12	22035726	22035726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaatgtcctctgtttctgCgggacgtagacgccgtgttg	13	10	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:22035726C>T	uc001rfi.1	-	14	2013	c.1993G>A	c.(1993-1995)GCA>ACA	p.A665T	ABCC9_uc001rfh.2_Missense_Mutation_p.A665T|ABCC9_uc001rfj.1_Intron	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	665	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCTGTTTCTGCGGGACGTAGA	0.378													T	22035726	C	T	22035726	3	4	43	1	0	0	0	0	1	0	0	0	59	768	27	1	2898	1	ABCC9	12	22035726	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	370453	22035726	111816169	383	36136											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:25398285C>A	uc001rgp.1	-	2	215	c.34G>T	c.(34-36)GGT>TGT	p.G12C	KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			A	25398285	C	A	25398285	3	1	43	1	0	0	0	0	1	0	0	0	8438	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	3362559	25398285	108453610	384	36137											
ITPR2	3709	broad.mit.edu	37	chr12	26784907	26784907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtggcacatccggcacGctcatggggaagatggagcc	16	11	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:26784907G>A	uc001rhg.2	-	22	3243	c.2826C>T	c.(2824-2826)AGC>AGT	p.S942S		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	942	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					CATCCGGCACGCTCATGGGGA	0.537													A	26784907	G	A	26784907	2	1	43	1	0	0	0	0	0	0	0	1	7921	1078	38	1		1	ITPR2	12	26784907	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1386622	26784907	107066988	385	36138											
ITPR2	3709	broad.mit.edu	37	chr12	26839488	26839488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcaatgtcattgccatgCgggactgaaaccaaagtata	10	8	1	1	rs117349764	by1000genomes	TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:26839488C>T	uc001rhg.2	-	11	1491	c.1074G>A	c.(1072-1074)CCG>CCA	p.P358P		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	358	Cytoplasmic (Potential).|MIR 4.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					CATTGCCATGCGGGACTGAAA	0.423													T	26839488	C	T	26839488	2	4	43	1	0	0	0	0	0	0	0	1	7921	755	27	1		1	ITPR2	12	26839488	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	54581	26839488	107012407	386	36139											
MED21	9412	broad.mit.edu	37	chr12	27181274	27181274	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagctgctacatgtctggaGgatgttgtttatcgaggaga	14	5	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:27181274G>T	uc001rhp.1	+	4	345	c.315G>T	c.(313-315)GAG>GAT	p.E105D	MED21_uc009zjh.1_RNA	NM_004264	NP_004255	Q13503	MED21_HUMAN	mediator complex subunit 21	105					positive regulation of transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|transcription coactivator activity				0	Colorectal(261;0.0847)					CATGTCTGGAGGATGTTGTTT	0.403													T	27181274	G	T	27181274	3	4	43	1	0	0	0	0	1	0	0	0	9439	991	35	5	329	5	MED21	12	27181274	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	341786	27181274	106670621	387	36140											
SYT10	341359	broad.mit.edu	37	chr12	33579288	33579288	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtaggagcacttgaaatgctCtgtggaagcgtagtgatgtt	14	5	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:33579288C>T	uc001rll.1	-	2	591	c.294G>A	c.(292-294)CAG>CAA	p.Q98Q	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	98	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTGAAATGCTCTGTGGAAGCG	0.423													T	33579288	C	T	33579288	2	4	43	1	0	0	0	0	0	0	0	1	15463	912	32	4		4	SYT10	12	33579288	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	6398014	33579288	100272607	388	36141											
LRRK2	120892	broad.mit.edu	37	chr12	40672043	40672043	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgccaatcaagcaaaggagGgatcttctttaatttgtcag	9	7	4	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:40672043G>T	uc001rmg.3	+	18	2342	c.2221G>T	c.(2221-2223)GGA>TGA	p.G741*	LRRK2_uc001rmh.1_Nonsense_Mutation_p.G363*	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	741					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGCAAAGGAGGGATCTTCTTT	0.393													T	40672043	G	T	40672043	4	4	43	1	0	0	0	0	0	1	0	0	9033	1233	43	5	2291	5	LRRK2	12	40672043	Nonsense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	7092755	40672043	93179852	389	36142											
PDZRN4	29951	broad.mit.edu	37	chr12	41967251	41967251	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccaagatggaatggaaGgtgaaaattaggagcgacgg	16	5	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:41967251G>A	uc010skn.1	+	10	2141	c.2073G>A	c.(2071-2073)AAG>AAA	p.K691K	PDZRN4_uc001rmq.3_Silent_p.K632K|PDZRN4_uc009zjz.2_Silent_p.K630K|PDZRN4_uc001rmr.2_Silent_p.K517K	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	890							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGGAATGGAAGGTGAAAATTA	0.502													A	41967251	G	A	41967251	2	1	43	1	0	0	0	0	0	0	0	1	11710	991	35	4		4	PDZRN4	12	41967251	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1295208	41967251	91884644	390	36143											
GXYLT1	283464	broad.mit.edu	37	chr12	42491296	42491296	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggttgcttatcgtcatggTaaacacctctgttcccatga	8	11	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:42491296T>C	uc001rms.3	-	7	1334	c.1109A>G	c.(1108-1110)TAC>TGC	p.Y370C	GXYLT1_uc001rmt.3_Missense_Mutation_p.Y339C	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	glycosyltransferase 8 domain containing 3	370	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0						ATCGTCATGGTAAACACCTCT	0.333													C	42491296	T	C	42491296	3	2	43	1	0	0	0	0	1	0	0	0	6903	1638	57	3	221	3	GXYLT1	12	42491296	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	524045	42491296	91360599	391	36144											
ARID2	196528	broad.mit.edu	37	chr12	46246350	46246350	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctctgttatacagggacatCaaatcatagcagttcccgac	7	12	3	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:46246350C>T	uc001ros.1	+	15	4444	c.4444C>T	c.(4444-4446)CAA>TAA	p.Q1482*	ARID2_uc001ror.2_Nonsense_Mutation_p.Q1482*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q938*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q1109*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q816*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1482					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACAGGGACATCAAATCATAGC	0.448													T	46246350	C	T	46246350	4	4	43	1	0	0	0	0	0	1	0	0	915	827	29	4	4502	4	ARID2	12	46246350	Nonsense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	3755054	46246350	87605545	392	36145											
CCNT1	904	broad.mit.edu	37	chr12	49087792	49087792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccagttgcctcttctggGcagccaattcttctgcatgc	8	14	5	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:49087792G>A	uc001rse.1	-	9	1528	c.1205C>T	c.(1204-1206)GCC>GTC	p.A402V	LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.A117V	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	402	Potential.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			ovary(3)|lung(1)|breast(1)|skin(1)	6						CCTCTTCTGGGCAGCCAATTC	0.443													A	49087792	G	A	49087792	3	1	43	1	0	0	0	0	1	0	0	0	2934	1203	42	2	979	2	CCNT1	12	49087792	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	2841442	49087792	84764103	393	36146											
MLL2	8085	broad.mit.edu	37	chr12	49447032	49447032	+	Frame_Shift_Del	DEL	T	T	-													ggcagttcctccatgggtggTtttaggcagaaagtatggta							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:49447031_49447031GT>G	uc001rta.4	-	6	913	c.913_913AC>C	c.(913-915)ccafs	p.P305fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	305	Cys-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TCCATGGGTGGTTTTAGGCAG	0.478			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	49447032	T	-	49447032	7	5	43	1	0	1	0	1	0	0	0	0	9621	1722	60	0	15893	0	MLL2	12	49447032	Frame_Shift_Del	DEL	T	TCGA-BR-6802-01A-11D-1882-08	359240	49447032	84404863	394	36147											
PRPF40B	25766	broad.mit.edu	37	chr12	50029022	50029022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcctggagcagcatgaacGcatgacctccaccacccgct	8	16	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:50029022G>A	uc001rur.1	+	12	1140	c.1076G>A	c.(1075-1077)CGC>CAC	p.R359H	PRPF40B_uc001rup.1_Missense_Mutation_p.R381H|PRPF40B_uc001ruq.1_Missense_Mutation_p.R353H|PRPF40B_uc001rus.1_Missense_Mutation_p.R302H	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Huntingtin interacting protein C isoform 1	359					mRNA processing|RNA splicing	nuclear speck				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						CAGCATGAACGCATGACCTCC	0.622													A	50029022	G	A	50029022	3	1	43	1	0	0	0	0	1	0	0	0	12572	1087	38	1	1122	1	PRPF40B	12	50029022	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	581990	50029022	83822873	395	36148											
KRT1	3848	broad.mit.edu	37	chr12	53069130	53069130	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccagagctgccgccgccGccgcctccagagccacctct	10	22	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:53069130G>A	uc001sau.1	-	9	1841	c.1782C>T	c.(1780-1782)GGC>GGT	p.G594G	KRT1_uc001sav.1_Silent_p.G587G	NM_006121	NP_006112	P04264	K2C1_HUMAN	keratin 1	594	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			ovary(1)|skin(1)	2						tgccgccgccgccgcctccag	0.274													A	53069130	G	A	53069130	2	1	43	1	0	0	0	0	0	0	0	1	8447	1074	38	1		1	KRT1	12	53069130	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	3040108	53069130	80782765	396	36149											
KRT79	338785	broad.mit.edu	37	chr12	53225246	53225246	+	Frame_Shift_Del	DEL	C	C	-													ctgagctctgagtccagcctCccccgctcgctctgaagtct							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:53225245_53225245TC>T	uc001sbb.3	-	1	676	c.643_643GA>A	c.(643-645)aggfs	p.R215fs	KRT79_uc001sba.3_5'Flank	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	215	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGTCCAGCCTCCCCCGCTCG	0.617													-	53225246	C	-	53225246	7	5	43	1	0	1	0	1	0	0	0	0	8492	842	30	0	997	0	KRT79	12	53225246	Frame_Shift_Del	DEL	C	TCGA-BR-6802-01A-11D-1882-08	156116	53225246	80626649	397	36150											
AVPR1A	552	broad.mit.edu	37	chr12	63544484	63544484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagctcctcgttgcgcaCgtccctcggtgggccgttgc	14	16	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:63544484C>T	uc001sro.1	-	1	2107	c.133G>A	c.(133-135)GTG>ATG	p.V45M		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	45	Extracellular (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TCGTTGCGCACGTCCCTCGGT	0.697													T	63544484	C	T	63544484	3	4	43	1	0	0	0	0	1	0	0	0	1231	536	19	1	1131	1	AVPR1A	12	63544484	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	10319238	63544484	70307411	398	36151											
LEMD3	23592	broad.mit.edu	37	chr12	65609822	65609822	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcgattggcacagcttgcAggtaattgttttaactttta	9	6	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:65609822A>G	uc001ssl.1	+	3	1632	c.1626A>G	c.(1624-1626)GCA>GCG	p.A542A	LEMD3_uc009zqo.1_Silent_p.A541A	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	542					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			central_nervous_system(3)|ovary(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		CACAGCTTGCAGGTAATTGTT	0.274													G	65609822	A	G	65609822	2	3	43	1	0	0	0	0	0	0	0	1	8721	202	7	3		3	LEMD3	12	65609822	Silent	SNP	A	TCGA-BR-6802-01A-11D-1882-08	2065338	65609822	68242073	399	36152											
LGR5	8549	broad.mit.edu	37	chr12	71977713	71977713	+	Frame_Shift_Del	DEL	T	T	-													gttggttgccatgtcattggTtttttgtccatttttgcttc							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:71977712_71977712GT>G	uc001swl.3	+	17	1970	c.1922_1922GT>G	c.(1921-1923)ggtfs	p.G641fs	LGR5_uc001swm.3_Frame_Shift_Del_p.G617fs|LGR5_uc021rar.1_Frame_Shift_Del_p.G569fs|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	641						integral to plasma membrane	protein-hormone receptor activity	p.I640T(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CATGTCATTGGTTTTTTGTCC	0.493													-	71977713	T	-	71977713	7	5	43	1	0	1	0	1	0	0	0	0	8757	1712	60	0	1993	0	LGR5	12	71977713	Frame_Shift_Del	DEL	T	TCGA-BR-6802-01A-11D-1882-08	6367891	71977713	61874182	400	36153											
ELK3	2004	broad.mit.edu	37	chr12	96641453	96641453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccgacatcggctccatcGccctcaacagcccagccctc	7	21	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:96641453G>A	uc001teo.1	+	3	1222	c.943G>A	c.(943-945)GCC>ACC	p.A315T		NM_005230	NP_005221	P41970	ELK3_HUMAN	ELK3 protein	315					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	all_cancers(2;0.00173)					CGGCTCCATCGCCCTCAACAG	0.597													A	96641453	G	A	96641453	3	1	43	1	0	0	0	0	1	0	0	0	5060	1087	38	1	949	1	ELK3	12	96641453	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	24663740	96641453	37210442	401	36154											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100451350	100451350	+	Splice_Site	DEL	T	T	-													agccgtatcataactttaccTttttccaaaaacatatggct							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:100451349_100451349CT>C	uc001tgq.3	-	15	3653	c.3424_splice	c.e15+1	p.G1142_splice	UHRF1BP1L_uc001tgp.3_Splice_Site_p.G792_splice	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	1142										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ATAACTTTACCTTTTTCCAAA	0.328													-	100451350	T	-	100451350	8	5	43	1	0	1	0	1	0	0	1	0	16966	1623	56	0	999	0	UHRF1BP1L	12	100451350	Splice_Site	DEL	T	TCGA-BR-6802-01A-11D-1882-08	3809897	100451350	33400545	402	36155											
UTP20	27340	broad.mit.edu	37	chr12	101682763	101682764	+	Frame_Shift_Ins	INS	-	-	A													cagcacactcctggctcataINSaaaaactacatataagaaat							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:101682762_101682763T>TA	uc001tia.1	+	5	696_697	c.540_541T>TA	c.(538-543)cataaafs	p.H180fs	UTP20_uc009ztz.1_Frame_Shift_Ins_p.H180fs	NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	180					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			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TCCTGGCTCATAAAAAACTACA	0.277													A	101682764	-	A	101682763	7	5	43	1	0	1	1	0	0	0	0	0	17096	363	13	0	563	0	UTP20	12	101682763	Frame_Shift_Ins	INS	-	TCGA-BR-6802-01A-11D-1882-08	1231413	101682763	32169132	403	36156											
FICD	11153	broad.mit.edu	37	chr12	108912784	108912784	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgggctacgtggacccCgtggaagccggcaggtttcg	17	11	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:108912784C>T	uc001tmx.1	+	3	1055	c.909C>T	c.(907-909)CCC>CCT	p.P303P		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Huntingtin interacting protein E	303	Fido.				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity				0						ACGTGGACCCCGTGGAAGCCG	0.592													T	108912784	C	T	108912784	2	4	43	1	0	0	0	0	0	0	0	1	5887	639	23	1		1	FICD	12	108912784	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	7230021	108912784	24939111	404	36157											
C12orf51	283450	broad.mit.edu	37	chr12	112690349	112690350	+	Frame_Shift_Ins	INS	-	-	G													caccttaaaatttaaggaagINSggggggaaatgcactttaaa							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:112690348_112690349A>AG	uc021reb.1	-	22	3425_3426	c.3029_3030T>CT	c.(3028-3030)cctfs	p.P1010fs	C12orf51_uc010syk.1_Intron|C12orf51_uc001tts.2_Intron|C12orf51_uc001ttt.3_Intron	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						AATTTAAGGAAGGGGGGGAAAT	0.396													G	112690350	-	G	112690349	7	5	43	1	0	1	1	0	0	0	0	0	1696	1000	35	0	10041	0	C12orf51	12	112690349	Frame_Shift_Ins	INS	-	TCGA-BR-6802-01A-11D-1882-08	3777565	112690349	21161546	405	36158											
TPCN1	53373	broad.mit.edu	37	chr12	113733856	113733856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcagcccccaggcagccGccagcgctcccagaccgtta	10	20	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:113733856G>A	uc001tuw.2	+	28	2723	c.2426G>A	c.(2425-2427)CGC>CAC	p.R809H	TPCN1_uc001tux.2_Missense_Mutation_p.R881H|TPCN1_uc010syu.1_RNA	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1 isoform 2	809	Cytoplasmic (Potential).					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			skin(2)|ovary(1)	3						CCAGGCAGCCGCCAGCGCTCC	0.602													A	113733856	G	A	113733856	3	1	43	1	0	0	0	0	1	0	0	0	16392	1087	38	1	2752	1	TPCN1	12	113733856	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1043507	113733856	20118039	406	36159											
RPLP0	6175	broad.mit.edu	37	chr12	120636391	120636391	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgcagagtttcctctgtgAtatcaagcacttcagggttg	10	8	3	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:120636391A>G	uc001txp.2	-	6	854	c.617T>C	c.(616-618)ATC>ACC	p.I206T	RPLP0_uc001txq.2_Missense_Mutation_p.I206T|RPLP0_uc001txr.2_Intron|uc001txs.1_5'Flank	NM_053275	NP_444505	P05388	RLA0_HUMAN	ribosomal protein P0	206					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCCTCTGTGATATCAAGCAC	0.512													G	120636391	A	G	120636391	3	3	43	1	0	0	0	0	1	0	0	0	13604	333	12	3	348	3	RPLP0	12	120636391	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	6902535	120636391	13215504	407	36160											
UBC	7316	broad.mit.edu	37	chr12	125396267	125396267	+	Frame_Shift_Del	DEL	C	C	-													taaaaggggaaacttagacaCcccccctcaagcgcaggacc							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:125396266_125396266AC>A	uc001ugs.4	-	1	2510	c.2052_2052GT>T	c.(2050-2052)ggtfs	p.G684fs	UBC_uc001ugr.3_Non-coding_Transcript|UBC_uc001ugt.3_Frame_Shift_Del_p.G532fs|UBC_uc001ugu.1_Frame_Shift_Del_p.G608fs|UBC_uc001ugv.3_Frame_Shift_Del_p.G152fs|UBC_uc021rge.1_Frame_Shift_Del_p.G684fs	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	684	Ubiquitin-like 9.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AAACTTAGACACCCCCCCTCA	0.413													-	125396267	C	-	125396267	7	5	43	1	0	1	0	1	0	0	0	0	16839	507	18	0	10	0	UBC	12	125396267	Frame_Shift_Del	DEL	C	TCGA-BR-6802-01A-11D-1882-08	4759876	125396267	8455628	408	36161											
GPR133	283383	broad.mit.edu	37	chr12	131476867	131476867	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccggagtgatactgagttAcctccaaaatgtatccctca	7	12	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:131476867A>G	uc001uit.3	+	8	1455	c.896A>G	c.(895-897)TAC>TGC	p.Y299C	GPR133_uc010tbm.1_Missense_Mutation_p.Y331C	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	299	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ATACTGAGTTACCTCCAAAAT	0.478													G	131476867	A	G	131476867	3	3	43	1	0	0	0	0	1	0	0	0	6643	391	14	3	926	3	GPR133	12	131476867	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	6080600	131476867	2375028	409	36162											
POLE	5426	broad.mit.edu	37	chr12	133254218	133254218	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtagggaacatcgtactcGcgcatgtccacaatgttgtc	11	10	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr12:133254218G>A	uc001uks.1	-	7	710	c.666C>T	c.(664-666)CGC>CGT	p.R222R	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Silent_p.R195R	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	222					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CATCGTACTCGCGCATGTCCA	0.502								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	133254218	G	A	133254218	2	1	43	1	0	0	0	0	0	0	0	1	12196	1074	38	1		1	POLE	12	133254218	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1777351	133254218	597677	410	36163											
ATP8A2	51761	broad.mit.edu	37	chr13	26411318	26411318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagattttcaccgctttgccGcccttcactctgggaatctt	7	14	4	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr13:26411318G>A	uc001uqk.2	+	29	2914	c.2772G>A	c.(2770-2772)CCG>CCA	p.P924P	ATP8A2_uc010tdi.1_Silent_p.P859P|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Silent_p.P474P	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	884	Helical; (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CCGCTTTGCCGCCCTTCACTC	0.498													A	26411318	G	A	26411318	2	1	43	1	0	0	0	0	0	0	0	1	1193	1074	38	1		1	ATP8A2	13	26411318	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08		26411318	88758560	411	36164											
KL	9365	broad.mit.edu	37	chr13	33591184	33591184	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccccagcgcctgcaggaCgcctacggcggctgggccaa	14	17	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr13:33591184C>T	uc001uus.2	+	1	614	c.606C>T	c.(604-606)GAC>GAT	p.D202D	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	202	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCCTGCAGGACGCCTACGGCG	0.697													T	33591184	C	T	33591184	2	4	43	1	0	0	0	0	0	0	0	1	8331	535	19	1		1	KL	13	33591184	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	7179866	33591184	81578694	412	36165											
ENOX1	55068	broad.mit.edu	37	chr13	43918697	43918697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgagaatcccagttaagGcatttttaaaattctccttg	8	7	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr13:43918697G>A	uc001uza.3	-	9	1313	c.1013C>T	c.(1012-1014)GCC>GTC	p.A338V	ENOX1_uc001uzb.3_Missense_Mutation_p.A338V|ENOX1_uc001uzc.3_Missense_Mutation_p.A338V|ENOX1_uc001uyz.3_5'UTR|ENOX1_uc010tfm.1_Missense_Mutation_p.A151V	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	338	Potential.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CCCAGTTAAGGCATTTTTAAA	0.403													A	43918697	G	A	43918697	3	1	43	1	0	0	0	0	1	0	0	0	5126	1203	42	2	954	2	ENOX1	13	43918697	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	10327513	43918697	71251181	413	36166											
ZC3H13	23091	broad.mit.edu	37	chr13	46585554	46585554	+	Frame_Shift_Del	DEL	T	T	-													gcaataaatagcatacctccTttttaatgataatttcttct							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr13:46585553_46585553CT>C	uc010tfw.1	-	4	591	c.585_585AG>G	c.(583-585)aagfs	p.K195fs	ZC3H13_uc001vas.1_Frame_Shift_Del_p.K195fs|ZC3H13_uc001vat.1_Frame_Shift_Del_p.K195fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	195							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		AGCATACCTCCTTTTTAATGA	0.308													-	46585554	T	-	46585554	7	5	43	1	0	1	0	1	0	0	0	0	17562	1609	56	0	4158	0	ZC3H13	13	46585554	Frame_Shift_Del	DEL	T	TCGA-BR-6802-01A-11D-1882-08	2666857	46585554	68584324	414	36167											
RNF219	79596	broad.mit.edu	37	chr13	79191059	79191059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactgcctttgctccctttGccatctgcagaaagtgctgt	8	13	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr13:79191059G>A	uc001vkw.1	-	6	896	c.837C>T	c.(835-837)GGC>GGT	p.G279G	uc001vku.1_RNA|RNF219_uc010afb.1_Silent_p.G89G|RNF219_uc010afc.2_Intron	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	ring finger protein 219	279							zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TGCTCCCTTTGCCATCTGCAG	0.453													A	79191059	G	A	79191059	2	1	43	1	0	0	0	0	0	0	0	1	13482	1306	46	2		2	RNF219	13	79191059	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	32605505	79191059	35978819	415	36168											
DOCK9	23348	broad.mit.edu	37	chr13	99449686	99449686	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactttattgtcaggatatcGctttgtgtttgtatcatcta	7	7	3	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr13:99449686G>A	uc001vnt.2	-	53	6074	c.6019C>T	c.(6019-6021)CGA>TGA	p.R2007*	DOCK9_uc001vnw.2_Nonsense_Mutation_p.R2006*|DOCK9_uc001vnq.2_Nonsense_Mutation_p.R554*|DOCK9_uc001vnr.2_Nonsense_Mutation_p.R636*|DOCK9_uc010tin.1_Nonsense_Mutation_p.R625*|DOCK9_uc001vns.2_Nonsense_Mutation_p.R542*|DOCK9_uc010tio.1_Nonsense_Mutation_p.R662*|DOCK9_uc010tip.1_Nonsense_Mutation_p.R703*	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	2007	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCAGGATATCGCTTTGTGTTT	0.388													A	99449686	G	A	99449686	4	1	43	1	0	0	0	0	0	1	0	0	4694	1095	38	1	206	1	DOCK9	13	99449686	Nonsense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	20258627	99449686	15720192	416	36169											
KDELC1	79070	broad.mit.edu	37	chr13	103443452	103443452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctttcccagggaggaccCgtgttagcttgcacggacat	12	11	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr13:103443452C>T	uc001vpq.3	-	6	1266	c.882G>A	c.(880-882)ACG>ACA	p.T294T	KDELC1_uc001vpr.3_Silent_p.T75T	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1 precursor	294						endoplasmic reticulum lumen				ovary(1)	1	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGGAGGACCCGTGTTAGCTT	0.478													T	103443452	C	T	103443452	2	4	43	1	0	0	0	0	0	0	0	1	8117	639	23	1		1	KDELC1	13	103443452	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	3993766	103443452	11726426	417	36170											
F7	2155	broad.mit.edu	37	chr13	113771902	113771902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactggaggaacctgatcgCggtgctgggtgggtaccact	16	9	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr13:113771902C>T	uc001vsv.2	+	8	848	c.797C>T	c.(796-798)GCG>GTG	p.A266V	F7_uc001vsw.2_Missense_Mutation_p.A244V|F7_uc010tjt.1_Missense_Mutation_p.A197V	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	266	Peptidase S1.		A -> T (in FA7D).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	AACCTGATCGCGGTGCTGGGT	0.632													T	113771902	C	T	113771902	3	4	43	1	0	0	0	0	1	0	0	0	5349	768	27	1	827	1	F7	13	113771902	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	10328450	113771902	1397976	418	36171											
LRRC16B	90668	broad.mit.edu	37	chr14	24532580	24532580	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caactggggaatctggggatCccccctggctggttctcagg	14	12	2	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr14:24532580C>T	uc001wlj.2	+	31	2974	c.2817C>T	c.(2815-2817)ATC>ATT	p.I939I	LRRC16B_uc001wlk.2_Silent_p.I35I	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	939										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		ATCTGGGGATCCCCCCTGGCT	0.582													T	24532580	C	T	24532580	2	4	43	1	0	0	0	0	0	0	0	1	8972	845	30	4		4	LRRC16B	14	24532580	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08		24532580	82816960	419	36172											
RALGAPA1	253959	broad.mit.edu	37	chr14	36159176	36159176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaaaatgtctgactctaGttgagcggggaagtatttga	13	4	2	4			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr14:36159176G>A	uc001wti.2	-	17	2691	c.2300C>T	c.(2299-2301)ACT>ATT	p.T767I	RALGAPA1_uc001wtj.2_Missense_Mutation_p.T767I|RALGAPA1_uc010tpv.1_Missense_Mutation_p.T767I|RALGAPA1_uc010tpw.1_Missense_Mutation_p.T814I|RALGAPA1_uc001wtk.1_Missense_Mutation_p.T665I	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	767					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						TCTGACTCTAGTTGAGCGGGG	0.333													A	36159176	G	A	36159176	3	1	43	1	0	0	0	0	1	0	0	0	13013	1029	36	4	4059	4	RALGAPA1	14	36159176	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	11626596	36159176	71190364	420	36173											
RALGAPA1	253959	broad.mit.edu	37	chr14	36194349	36194349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactctgagcaacacaagcaGcatctgttcccttaaaataa	6	11	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr14:36194349G>A	uc001wti.2	-	14	2138	c.1747C>T	c.(1747-1749)CTG>TTG	p.L583L	RALGAPA1_uc001wtj.2_Silent_p.L583L|RALGAPA1_uc010tpv.1_Silent_p.L583L|RALGAPA1_uc010tpw.1_Silent_p.L583L|RALGAPA1_uc001wtk.1_Silent_p.L434L	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	583					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						AACACAAGCAGCATCTGTTCC	0.353													A	36194349	G	A	36194349	2	1	43	1	0	0	0	0	0	0	0	1	13013	962	34	2		2	RALGAPA1	14	36194349	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	35173	36194349	71155191	421	36174											
SSTR1	6751	broad.mit.edu	37	chr14	38679601	38679601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaagcgctctttccaacGcatcctatgcctcagctgga	7	15	3	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr14:38679601G>A	uc001wul.1	+	3	1624	c.1007G>A	c.(1006-1008)CGC>CAC	p.R336H	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	336	Cytoplasmic (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			central_nervous_system(3)|ovary(1)|lung(1)	5	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TCTTTCCAACGCATCCTATGC	0.572													A	38679601	G	A	38679601	3	1	43	1	0	0	0	0	1	0	0	0	15196	1087	38	1	1009	1	SSTR1	14	38679601	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	2485252	38679601	68669939	422	36175											
SYNE2	23224	broad.mit.edu	37	chr14	64630227	64630227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacccacatgctcctcccGggccccctgcactctctcca	6	22	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr14:64630227G>A	uc001xgm.2	+	89	16637	c.16407G>A	c.(16405-16407)CCG>CCA	p.P5469P	SYNE2_uc001xgl.2_Silent_p.P5469P|SYNE2_uc010apy.2_Silent_p.P1854P|SYNE2_uc001xgn.2_Silent_p.P431P|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5469	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGCTCCTCCCGGGCCCCCTGC	0.478													A	64630227	G	A	64630227	2	1	43	1	0	0	0	0	0	0	0	1	15443	1103	39	1		1	SYNE2	14	64630227	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	25950626	64630227	42719313	423	36176											
SIPA1L1	26037	broad.mit.edu	37	chr14	72054698	72054698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactgatgatttctacatgCggcgcttccggtcccaaaat	8	12	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr14:72054698C>T	uc001xms.2	+	2	457	c.109C>T	c.(109-111)CGG>TGG	p.R37W	SIPA1L1_uc001xmt.2_Missense_Mutation_p.R37W|SIPA1L1_uc001xmu.2_Missense_Mutation_p.R37W|SIPA1L1_uc001xmv.2_Missense_Mutation_p.R37W	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	37					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTTCTACATGCGGCGCTTCCG	0.547													T	72054698	C	T	72054698	3	4	43	1	0	0	0	0	1	0	0	0	14329	759	27	1	111	1	SIPA1L1	14	72054698	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	7424471	72054698	35294842	424	36177											
RGS6	9628	broad.mit.edu	37	chr14	73029132	73029132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtctctctgcagggaaagtCgctggcgggcaagcgcctca	14	12	3	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr14:73029132C>T	uc001xna.3	+	17	1899	c.1376C>T	c.(1375-1377)TCG>TTG	p.S459L	RGS6_uc010ttn.1_Missense_Mutation_p.S477L|RGS6_uc001xmx.3_Missense_Mutation_p.S459L|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.S477L|RGS6_uc001xmz.1_Intron	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	459					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAGGGAAAGTCGCTGGCGGGC	0.647													T	73029132	C	T	73029132	3	4	43	1	0	0	0	0	1	0	0	0	13309	893	31	1	1438	1	RGS6	14	73029132	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	974434	73029132	34320408	425	36178											
PAPLN	89932	broad.mit.edu	37	chr14	73718470	73718470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccatcctgcattacgagCggggtgctgagggggacctg	16	11	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr14:73718470C>T	uc010ttx.1	+	8	932	c.769C>T	c.(769-771)CGG>TGG	p.R257W	PAPLN_uc001xnw.3_Missense_Mutation_p.R230W|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.R257W	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	257						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCATTACGAGCGGGGTGCTGA	0.657													T	73718470	C	T	73718470	3	4	43	1	0	0	0	0	1	0	0	0	11428	759	27	1	714	1	PAPLN	14	73718470	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	689338	73718470	33631070	426	36179											
C14orf43	91748	broad.mit.edu	37	chr14	74205491	74205491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccatcaggcagtagctgCgactccctcagctccagcgg	10	17	2	0	rs142510283		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr14:74205491C>T	uc001xot.2	-	2	2004	c.1221G>A	c.(1219-1221)TCG>TCA	p.S407S	C14orf43_uc001xou.2_Silent_p.S407S|C14orf43_uc010tud.1_Silent_p.S407S|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GCAGTAGCTGCGACTCCCTCA	0.662													T	74205491	C	T	74205491	2	4	43	1	0	0	0	0	0	0	0	1	1774	755	27	1		1	C14orf43	14	74205491	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	487021	74205491	33144049	427	36180											
TMED8	283578	broad.mit.edu	37	chr14	77808279	77808279	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgacctccccatagcgAccccgcaaggagctcctgga	11	16	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr14:77808279A>T	uc001xto.1	-	6	813	c.813T>A	c.(811-813)GGT>GGA	p.G271G	TMED8_uc010ast.1_RNA|TMED8_uc001xtn.1_Silent_p.G115G	NM_213601	NP_998766	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain	271	GOLD.				transport	integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCCCATAGCGACCCCGCAAGG	0.602													T	77808279	A	T	77808279	2	4	43	1	0	0	0	0	0	0	0	1	16008	262	10	5		5	TMED8	14	77808279	Silent	SNP	A	TCGA-BR-6802-01A-11D-1882-08	3602788	77808279	29541261	428	36181											
FAM181A	90050	broad.mit.edu	37	chr14	94395003	94395003	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatccagaagctgcccaGcctggccaggtgcccatgag	12	15	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr14:94395003G>A	uc001ybz.1	+	3	865	c.558G>A	c.(556-558)CAG>CAA	p.Q186Q	C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Silent_p.Q124Q|FAM181A_uc001yca.1_Silent_p.Q124Q	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN	hypothetical protein LOC90050	186											0						AAGCTGCCCAGCCTGGCCAGG	0.632													A	94395003	G	A	94395003	2	1	43	1	0	0	0	0	0	0	0	1	5508	962	34	2		2	FAM181A	14	94395003	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	16586724	94395003	12954537	429	36182											
AHNAK2	113146	broad.mit.edu	37	chr14	105411774	105411774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggctcacgtcggcctcCgccttcggcgcagacacatc	13	16	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr14:105411774C>T	uc010axc.1	-	7	10134	c.10014G>A	c.(10012-10014)GCG>GCA	p.A3338A	AHNAK2_uc001ypx.2_Silent_p.A3238A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3338						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)			CGTCGGCCTCCGCCTTCGGCG	0.617													T	105411774	C	T	105411774	2	4	43	1	0	0	0	0	0	0	0	1	415	639	23	1		1	AHNAK2	14	105411774	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	11016771	105411774	1937766	430	36183											
RYR3	6263	broad.mit.edu	37	chr15	33873841	33873841	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacctcctctacaaattgCtgggtaagtacacatacagt	7	10	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr15:33873841C>T	uc001zhi.2	+	14	1640	c.1570C>T	c.(1570-1572)CTG>TTG	p.L524L	RYR3_uc010bar.2_Silent_p.L524L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	524	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTACAAATTGCTGGGTAAGTA	0.458													T	33873841	C	T	33873841	2	4	43	1	0	0	0	0	0	0	0	1	13770	796	28	2		2	RYR3	15	33873841	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08		33873841	68657551	431	36184											
TP53BP1	7158	broad.mit.edu	37	chr15	43714236	43714236	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaggagaaggagctgataTcccccaggtcacctgaggag	15	9	1	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr15:43714236T>G	uc001zrs.2	-	19	4050	c.3902A>C	c.(3901-3903)GAT>GCT	p.D1301A	TP53BP1_uc010udp.1_Missense_Mutation_p.D1301A|TP53BP1_uc001zrq.3_Missense_Mutation_p.D1306A|TP53BP1_uc001zrr.3_Missense_Mutation_p.D1306A|TP53BP1_uc010udq.1_Missense_Mutation_p.D1306A	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1301					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGAGCTGATATCCCCCAGGTC	0.532								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					G	43714236	T	G	43714236	3	3	43	1	0	0	0	0	1	0	0	0	16380	1435	50	5	2056	5	TP53BP1	15	43714236	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	9840395	43714236	58817156	432	36185											
CYP19A1	1588	broad.mit.edu	37	chr15	51514616	51514616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacgcagaagggtcaacacGtccacatagcccgattcatt	9	13	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr15:51514616G>A	uc001zyz.3	-	6	809	c.558C>T	c.(556-558)GAC>GAT	p.D186D	CYP19A1_uc001zza.3_Silent_p.D186D|CYP19A1_uc001zzb.2_Silent_p.D186D|CYP19A1_uc001zzd.2_Silent_p.D186D|CYP19A1_uc010bey.1_Silent_p.D186D	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	186					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GGGTCAACACGTCCACATAGC	0.517													A	51514616	G	A	51514616	2	1	43	1	0	0	0	0	0	0	0	1	4148	1136	40	1		1	CYP19A1	15	51514616	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	7800380	51514616	51016776	433	36186											
TLN2	83660	broad.mit.edu	37	chr15	63069014	63069014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcccagttgatgaaggaaGccgtggatgacatcatggtg	14	9	1	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr15:63069014G>A	uc002alb.3	+	40	5419	c.5419G>A	c.(5419-5421)GCC>ACC	p.A1807T	TLN2_uc002alc.3_Missense_Mutation_p.A200T|TLN2_uc002ald.2_Missense_Mutation_p.A200T	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1807					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GATGAAGGAAGCCGTGGATGA	0.557													A	63069014	G	A	63069014	3	1	43	1	0	0	0	0	1	0	0	0	15945	971	34	2	5577	2	TLN2	15	63069014	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	11554398	63069014	39462378	434	36187											
CILP	8483	broad.mit.edu	37	chr15	65489719	65489719	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccccatgttgcgggatcGcacattcacttccagtggcc	10	16	1	0	rs150946463		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr15:65489719G>A	uc002aon.2	-	9	3086	c.2905C>T	c.(2905-2907)CGA>TGA	p.R969*		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	969					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						TTGCGGGATCGCACATTCACT	0.562													A	65489719	G	A	65489719	4	1	43	1	0	0	0	0	0	1	0	0	3429	1095	38	1	653	1	CILP	15	65489719	Nonsense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	2420705	65489719	37041673	435	36188											
C15orf44	81556	broad.mit.edu	37	chr15	65871779	65871779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgctcccagagaagtcCgtgtgcaaaggtgtgatgtt	14	8	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr15:65871779C>T	uc002apd.2	-	12	1860	c.1524G>A	c.(1522-1524)ACG>ACA	p.T508T	C15orf44_uc010uix.1_Silent_p.T544T|C15orf44_uc010uiz.1_Silent_p.T472T|C15orf44_uc010uja.1_Silent_p.T458T|C15orf44_uc010ujb.1_Silent_p.T429T|C15orf44_uc002ape.3_Silent_p.T508T|C15orf44_uc010uiy.1_Silent_p.T429T	NM_030800	NP_110427	Q96SY0	CO044_HUMAN	hypothetical protein LOC81556 isoform 2	508										ovary(1)	1						CAGAGAAGTCCGTGTGCAAAG	0.473													T	65871779	C	T	65871779	2	4	43	1	0	0	0	0	0	0	0	1	1798	639	23	1		1	C15orf44	15	65871779	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	382060	65871779	36659613	436	36189											
C15orf44	81556	broad.mit.edu	37	chr15	65891302	65891302	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatctatgagacgttcaagGcattccaaggaatcggtgct	10	8	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr15:65891302G>A	uc002apd.2	-	5	849	c.513C>T	c.(511-513)TGC>TGT	p.C171C	C15orf44_uc010uix.1_Silent_p.C207C|C15orf44_uc010uiz.1_Silent_p.C135C|C15orf44_uc010uja.1_Silent_p.C122C|C15orf44_uc010ujb.1_Silent_p.C92C|C15orf44_uc002ape.3_Silent_p.C171C|C15orf44_uc010uiy.1_Silent_p.C92C	NM_030800	NP_110427	Q96SY0	CO044_HUMAN	hypothetical protein LOC81556 isoform 2	171	VWFA.									ovary(1)	1						GACGTTCAAGGCATTCCAAGG	0.428													A	65891302	G	A	65891302	2	1	43	1	0	0	0	0	0	0	0	1	1798	1195	42	2		2	C15orf44	15	65891302	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	19523	65891302	36640090	437	36190											
FEM1B	10116	broad.mit.edu	37	chr15	68582994	68582994	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatatttcagatgctgatgTccacaatgctatggacaatt	7	7	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr15:68582994T>C	uc002arg.2	+	2	1913	c.1298T>C	c.(1297-1299)GTC>GCC	p.V433A	FEM1B_uc002arh.2_Missense_Mutation_p.V353A	NM_015322	NP_056137	Q9UK73	FEM1B_HUMAN	fem-1 homolog b	433					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity				0						GATGCTGATGTCCACAATGCT	0.373													C	68582994	T	C	68582994	3	2	43	1	0	0	0	0	1	0	0	0	5810	1667	58	3	1304	3	FEM1B	15	68582994	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	2691692	68582994	33948398	438	36191											
THSD4	79875	broad.mit.edu	37	chr15	72020961	72020961	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaccaggaaaatacgagggCggagggaccatgttcaccta	13	10	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr15:72020961C>T	uc002atb.1	+	8	1510	c.1431C>T	c.(1429-1431)GGC>GGT	p.G477G	THSD4_uc002atd.1_Silent_p.G151G|THSD4_uc010ukg.1_Silent_p.G117G|THSD4_uc002ate.2_Silent_p.G117G	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	477						proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						AATACGAGGGCGGAGGGACCA	0.502													T	72020961	C	T	72020961	2	4	43	1	0	0	0	0	0	0	0	1	15875	755	27	1		1	THSD4	15	72020961	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	3437967	72020961	30510431	439	36192											
GOLGA6B	55889	broad.mit.edu	37	chr15	72956779	72956779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttcccgtccccttaggaGcacctagaagctgccagcca	9	15	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr15:72956779G>A	uc010uks.1	+	13	1469	c.1428G>A	c.(1426-1428)GAG>GAA	p.E476E	uc002aux.1_5'Flank	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	golgi autoantigen, golgin subfamily a, 6B	476	Potential.										0						CCCCTTAGGAGCACCTAGAAG	0.622													A	72956779	G	A	72956779	2	1	43	1	0	0	0	0	0	0	0	1	6558	962	34	2		2	GOLGA6B	15	72956779	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	935818	72956779	29574613	440	36193											
PML	5371	broad.mit.edu	37	chr15	74315644	74315644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggcgctctgccgcctgCgccaggaggagccccagagc	15	17	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr15:74315644C>T	uc002awv.2	+	3	1218	c.1078C>T	c.(1078-1080)CGC>TGC	p.R360C	PML_uc002awm.2_Missense_Mutation_p.R360C|PML_uc002awl.2_Missense_Mutation_p.R360C|PML_uc002awj.1_Missense_Mutation_p.R360C|PML_uc002awk.2_Missense_Mutation_p.R360C|PML_uc002awn.2_Missense_Mutation_p.R360C|PML_uc002awo.2_Missense_Mutation_p.R360C|PML_uc002awp.2_Missense_Mutation_p.R360C|PML_uc002awq.2_Missense_Mutation_p.R360C|PML_uc002awr.2_Missense_Mutation_p.R360C|PML_uc002aws.2_Missense_Mutation_p.R360C|PML_uc002awt.2_Missense_Mutation_p.R360C|PML_uc002awu.2_Missense_Mutation_p.R360C|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.R275C|PML_uc002awx.2_Missense_Mutation_p.R118C|PML_uc002awy.2_5'Flank	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	360					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						CTGCCGCCTGCGCCAGGAGGA	0.677			T	RARA|PAX5	APL|ALL								T	74315644	C	T	74315644	3	4	43	1	0	0	0	0	1	0	0	0	12135	768	27	1	1088	1	PML	15	74315644	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1358865	74315644	28215748	441	36194											
SIN3A	25942	broad.mit.edu	37	chr15	75693198	75693198	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tagcaatgccctctgtggctCgctcctttggataagtttcc	9	12	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr15:75693198C>A	uc002bai.2	-	11	1869	c.1610G>T	c.(1609-1611)CGA>CTA	p.R537L	SIN3A_uc002baj.2_Missense_Mutation_p.R537L|SIN3A_uc010uml.1_Missense_Mutation_p.R537L	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	537	Interactions with SUDS3 and SAP130.|Interaction with NCOR1 (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						CTCTGTGGCTCGCTCCTTTGG	0.428													A	75693198	C	A	75693198	3	1	43	1	0	0	0	0	1	0	0	0	14325	884	31	5	2255	5	SIN3A	15	75693198	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1377554	75693198	26838194	442	36195											
CTSH	1512	broad.mit.edu	37	chr15	79215392	79215392	+	Frame_Shift_Del	DEL	T	T	-													cgatccagtaagggatcccaTttttttctccatacccaaca							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr15:79215391_79215391AT>A	uc021srk.1	-	10	973	c.876_876AT>T	c.(874-876)aatfs	p.N292fs	CTSH_uc010unf.1_Non-coding_Transcript	NM_004390	NP_004381	P09668	CATH_HUMAN	Homo sapiens cathepsin H (CTSH), mRNA.	292					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						AAGGGATCCCATTTTTTTCTC	0.473													-	79215392	T	-	79215392	7	5	43	1	0	1	0	1	0	0	0	0	4036	1493	52	0	140	0	CTSH	15	79215392	Frame_Shift_Del	DEL	T	TCGA-BR-6802-01A-11D-1882-08	3522194	79215392	23316000	443	36196											
AKAP13	11214	broad.mit.edu	37	chr15	86261259	86261259	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtaggtacagacatgaatgAaggacaactactgggagact	12	6	0	4			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr15:86261259A>G	uc002blv.1	+	22	6040	c.5870A>G	c.(5869-5871)GAA>GGA	p.E1957G	AKAP13_uc002blu.1_Missense_Mutation_p.E1961G|AKAP13_uc010bnf.1_Missense_Mutation_p.E578G|AKAP13_uc002blw.1_Missense_Mutation_p.E422G|AKAP13_uc002blx.1_Missense_Mutation_p.E202G	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	1957	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						GACATGAATGAAGGACAACTA	0.383													G	86261259	A	G	86261259	3	3	43	1	0	0	0	0	1	0	0	0	449	246	9	3	6022	3	AKAP13	15	86261259	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	7045867	86261259	16270133	444	36197											
HAPLN3	145864	broad.mit.edu	37	chr15	89424594	89424594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgttagcatctcaccccgcaGctccagctccaccagaccgc	7	20	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr15:89424594G>T	uc002bnc.2	-	3	615	c.487C>A	c.(487-489)CTG>ATG	p.L163M	HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Missense_Mutation_p.L225M	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	163	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	Lung NSC(78;0.0392)|all_lung(78;0.077)					TCACCCCGCAGCTCCAGCTCC	0.557													T	89424594	G	T	89424594	3	4	43	1	0	0	0	0	1	0	0	0	6956	962	34	5	607	5	HAPLN3	15	89424594	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	3163335	89424594	13106798	445	36198											
C15orf42	90381	broad.mit.edu	37	chr15	90125982	90125982	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctccaccacggaggtggCactgtcttgccatctgaatc	10	14	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr15:90125982C>T	uc002boe.2	+	2	720	c.720C>T	c.(718-720)GGC>GGT	p.G240G		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	240					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			ACGGAGGTGGCACTGTCTTGC	0.463													T	90125982	C	T	90125982	2	4	43	1	0	0	0	0	0	0	0	1	1796	697	25	2		2	C15orf42	15	90125982	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	701388	90125982	12405410	446	36199											
MAN2A2	4122	broad.mit.edu	37	chr15	91454123	91454123	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcaggtcatcattcatgcaGcccactatctggtgctgggg	12	11	4	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr15:91454123G>T	uc010bnz.2	+	12	1922	c.1807G>T	c.(1807-1809)GCC>TCC	p.A603S	MAN2A2_uc010boa.2_Missense_Mutation_p.A645S|MAN2A2_uc002bqc.2_Missense_Mutation_p.A603S|MAN2A2_uc010uql.1_Missense_Mutation_p.A265S|MAN2A2_uc010uqm.1_Missense_Mutation_p.A182S|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	603	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CATTCATGCAGCCCACTATCT	0.592													T	91454123	G	T	91454123	3	4	43	1	0	0	0	0	1	0	0	0	9215	971	34	5	1849	5	MAN2A2	15	91454123	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1328141	91454123	11077269	447	36200											
RPUSD1	113000	broad.mit.edu	37	chr16	836929	836929	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggctttgggttctcacaacCtggggcgcagaaggcaggtg	16	9	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr16:836929C>A	uc002cka.2	-	4	644	c.410_splice	c.e4-1	p.G137_splice	RPUSD1_uc002ckb.2_Splice_Site_p.G137_splice|RPUSD1_uc002ckc.2_Splice_Site_p.G8_splice|RPUSD1_uc002ckd.2_Splice_Site_p.V103_splice|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.3_5'Flank|CHTF18_uc002ckf.3_5'Flank|CHTF18_uc010brf.2_5'Flank|CHTF18_uc002ckg.3_5'Flank	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing						pseudouridine synthesis		pseudouridine synthase activity|RNA binding				0		Hepatocellular(780;0.00335)				TTCTCACAACCTGGGGCGCAG	0.652													A	836929	C	A	836929	5	1	43	1	0	0	0	0	0	0	1	0	13666	695	24	5	537	5	RPUSD1	16	836929	Splice_Site	SNP	C	TCGA-BR-6802-01A-11D-1882-08		836929	89517824	448	36201											
CCNF	899	broad.mit.edu	37	chr16	2499405	2499405	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaccagcctgtccgcctaCgccccagcccgcctggctgc	9	22	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr16:2499405C>T	uc002cqd.1	+	12	1429	c.1341C>T	c.(1339-1341)TAC>TAT	p.Y447Y	CCNF_uc002cqe.1_Silent_p.Y139Y	NM_001761	NP_001752	P41002	CCNF_HUMAN	cyclin F	447					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			central_nervous_system(1)|kidney(1)	2		Ovarian(90;0.17)				TGTCCGCCTACGCCCCAGCCC	0.672													T	2499405	C	T	2499405	2	4	43	1	0	0	0	0	0	0	0	1	2922	547	19	1		1	CCNF	16	2499405	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1662476	2499405	87855348	449	36202											
CPPED1	55313	broad.mit.edu	37	chr16	12875064	12875064	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatggcgtggatgaggtcGccgcacagaacgaagaattt	15	8	0	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr16:12875064G>A	uc002dca.3	-	2	378	c.267C>T	c.(265-267)GGC>GGT	p.G89G	CPPED1_uc002dcb.3_Silent_p.G89G	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain	89							hydrolase activity|metal ion binding				0						GGATGAGGTCGCCGCACAGAA	0.527													A	12875064	G	A	12875064	2	1	43	1	0	0	0	0	0	0	0	1	3822	1074	38	1		1	CPPED1	16	12875064	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	10375659	12875064	77479689	450	36203											
ABCC1	4363	broad.mit.edu	37	chr16	16142120	16142121	+	Frame_Shift_Ins	INS	-	-	C													attaacatgatctggtcagcINSccccctgcaagtcatccttg							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr16:16142119_16142120G>GC	uc010bvi.3	+	9	1514_1515	c.1339_1340G>GC	c.(1339-1341)gccfs	p.A447fs	ABCC1_uc010bvj.3_Frame_Shift_Ins_p.A447fs|ABCC1_uc010bvk.3_Frame_Shift_Ins_p.A447fs|ABCC1_uc010bvl.3_Frame_Shift_Ins_p.A447fs|ABCC1_uc010bvm.3_Frame_Shift_Ins_p.A447fs|ABCC1_uc002del.4_Frame_Shift_Ins_p.A331fs|ABCC1_uc010bvn.3_Frame_Shift_Ins_p.A310fs	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	447	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GATCTGGTCAGCCCCCCTGCAA	0.545													C	16142121	-	C	16142120	7	5	43	1	0	1	1	0	0	0	0	0	49	739	26	0	1378	0	ABCC1	16	16142120	Frame_Shift_Ins	INS	-	TCGA-BR-6802-01A-11D-1882-08	3267056	16142120	74212633	451	36204											
ABCC1	4363	broad.mit.edu	37	chr16	16218650	16218650	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtcttggcgcaggtggCtggccgtgcggctggagtgt	20	8	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr16:16218650C>T	uc010bvi.2	+	25	3770	c.3595C>T	c.(3595-3597)CTG>TTG	p.L1199L	ABCC1_uc010bvj.2_Silent_p.L1140L|ABCC1_uc010bvk.2_Silent_p.L1143L|ABCC1_uc010bvl.2_Silent_p.L1199L|ABCC1_uc010bvm.2_Silent_p.L1084L|ABCC1_uc002del.3_Silent_p.L1093L	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1199	Cytoplasmic.|ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GCGCAGGTGGCTGGCCGTGCG	0.582													T	16218650	C	T	16218650	2	4	43	1	0	0	0	0	0	0	0	1	49	796	28	2		2	ABCC1	16	16218650	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	76530	16218650	74136103	452	36205											
VWA3A	146177	broad.mit.edu	37	chr16	22144335	22144335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaccccctgcccgctatGccagtcacactgacacagcc	6	21	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr16:22144335G>A	uc010vbq.1	+	20	2083	c.1987G>A	c.(1987-1989)GCC>ACC	p.A663T	VWA3A_uc010bxd.2_RNA|VWA3A_uc010bxc.2_Missense_Mutation_p.A671T	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	663	VWFA 1.					extracellular region				skin(1)	1				GBM - Glioblastoma multiforme(48;0.0439)		TGCCCGCTATGCCAGTCACAC	0.612													A	22144335	G	A	22144335	3	1	43	1	0	0	0	0	1	0	0	0	17237	1319	46	2	2065	2	VWA3A	16	22144335	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	5925685	22144335	68210418	453	36206											
TNRC6A	27327	broad.mit.edu	37	chr16	24802619	24802619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtgacaggtccgtttccGgttggaacgaacttggtaaa	12	8	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr16:24802619G>A	uc002dmm.2	+	6	2770	c.2656G>A	c.(2656-2658)GGT>AGT	p.G886S	TNRC6A_uc010bxs.2_Missense_Mutation_p.G633S|TNRC6A_uc010vcc.1_Missense_Mutation_p.G633S|TNRC6A_uc002dmn.2_Missense_Mutation_p.G633S|TNRC6A_uc002dmo.2_Missense_Mutation_p.G633S	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	886	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		GTCCGTTTCCGGTTGGAACGA	0.433													A	24802619	G	A	24802619	3	1	43	1	0	0	0	0	1	0	0	0	16337	1116	39	1	2678	1	TNRC6A	16	24802619	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	2658284	24802619	65552134	454	36207											
ZNF629	23361	broad.mit.edu	37	chr16	30794465	30794465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggccgctcgcccgtgtgcGtgcgctggtgccgcagcaac	16	15	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr16:30794465G>A	uc002dzs.1	-	3	1392	c.1184C>T	c.(1183-1185)ACG>ATG	p.T395M		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	395	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			GCCCGTGTGCGTGCGCTGGTG	0.662													A	30794465	G	A	30794465	3	1	43	1	0	0	0	0	1	0	0	0	18050	1145	40	1	1429	1	ZNF629	16	30794465	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	5991846	30794465	59560288	455	36208											
N4BP1	9683	broad.mit.edu	37	chr16	48594880	48594880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggtggagaaagggttgaGcaatttggcttagaatgagg	16	2	0	4			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr16:48594880G>A	uc002efp.2	-	2	1911	c.1674C>T	c.(1672-1674)TGC>TGT	p.C558C		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Nedd4 binding protein 1	558					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body					0		all_cancers(37;0.179)|all_lung(18;0.11)				AAAGGGTTGAGCAATTTGGCT	0.453													A	48594880	G	A	48594880	2	1	43	1	0	0	0	0	0	0	0	1	10109	963	34	2		2	N4BP1	16	48594880	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	17800415	48594880	41759873	456	36209											
CBLN1	869	broad.mit.edu	37	chr16	49315161	49315161	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactcatctcggacggctcGtggttggtgctcctgatggc	13	11	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr16:49315161G>A	uc002efq.2	-	1	555	c.216C>T	c.(214-216)CAC>CAT	p.H72H		NM_004352	NP_004343	P23435	CBLN1_HUMAN	cerebellin 1 precursor	72	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).				nervous system development|synaptic transmission	cell junction|extracellular region|synapse					0		all_cancers(37;0.0766)|all_lung(18;0.24)				CGGACGGCTCGTGGTTGGTGC	0.612													A	49315161	G	A	49315161	2	1	43	1	0	0	0	0	0	0	0	1	2704	1136	40	1		1	CBLN1	16	49315161	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	720281	49315161	41039592	457	36210											
CHD9	80205	broad.mit.edu	37	chr16	53191220	53191220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattcacaggacttgaccccGaggacctccttcaggagggt	11	13	2	1	rs147266259	by1000genomes	TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr16:53191220G>A	uc002ehb.2	+	1	1383	c.1219G>A	c.(1219-1221)GAG>AAG	p.E407K	CHD9_uc002egy.2_Missense_Mutation_p.E407K|CHD9_uc002egz.1_Missense_Mutation_p.E407K|CHD9_uc002eha.1_Missense_Mutation_p.E407K|CHD9_uc002ehc.2_Missense_Mutation_p.E407K	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	407					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				ACTTGACCCCGAGGACCTCCT	0.403													A	53191220	G	A	53191220	3	1	43	1	0	0	0	0	1	0	0	0	3332	1059	37	1	1221	1	CHD9	16	53191220	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	3876059	53191220	37163533	458	36211											
C16orf80	29105	broad.mit.edu	37	chr16	58149340	58149340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgcccgaaagcgacgacGcacattcttgtcatctagta	8	12	3	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr16:58149340G>A	uc002enb.1	-	4	575	c.298C>T	c.(298-300)CGT>TGT	p.R100C		NM_013242	NP_037374	Q9Y6A4	CP080_HUMAN	transcription factor IIB	100					multicellular organismal development						0						AAGCGACGACGCACATTCTTG	0.512													A	58149340	G	A	58149340	3	1	43	1	0	0	0	0	1	0	0	0	1837	1087	38	1	295	1	C16orf80	16	58149340	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	4958120	58149340	32205413	459	36212											
DPEP3	64180	broad.mit.edu	37	chr16	68013621	68013621	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcaggttaacatcctgaAgcacattcttgtaacgctgt	8	10	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr16:68013621A>G	uc002evc.3	-	2	504	c.410T>C	c.(409-411)CTT>CCT	p.L137P	DPEP3_uc010cex.2_Missense_Mutation_p.L137P	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	dipeptidase 3 isoform a	112					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(3)	3		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		AACATCCTGAAGCACATTCTT	0.557													G	68013621	A	G	68013621	3	3	43	1	0	0	0	0	1	0	0	0	4715	72	3	3	1167	3	DPEP3	16	68013621	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	9864281	68013621	22341132	460	36213											
DUS2L	54920	broad.mit.edu	37	chr16	68110548	68110548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccaggagagcatacccaGcccagatcacccctaagatg	8	16	1	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr16:68110548G>A	uc002evi.2	+	15	1245	c.1096G>A	c.(1096-1098)GCC>ACC	p.A366T	DUS2L_uc002evj.2_Missense_Mutation_p.A366T|DUS2L_uc010vkk.1_Missense_Mutation_p.A331T|DUS2L_uc010cez.2_Missense_Mutation_p.A279T	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2-like, SMM1 homolog	366					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		AGCATACCCAGCCCAGATCAC	0.597													A	68110548	G	A	68110548	3	1	43	1	0	0	0	0	1	0	0	0	4806	971	34	2	1146	2	DUS2L	16	68110548	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	96927	68110548	22244205	461	36214											
PLA2G15	23659	broad.mit.edu	37	chr16	68289855	68289855	+	Frame_Shift_Del	DEL	G	G	-													cgtgtcactgggtgcgccctGggggggcgtggccaagaccc							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr16:68289854_68289854TG>T	uc002evr.3	+	4	771	c.688_688TG>T	c.(688-690)tggfs	p.W230fs	PLA2G15_uc010vld.2_Frame_Shift_Del_p.L188fs|PLA2G15_uc010vle.2_Frame_Shift_Del_p.W136fs|PLA2G15_uc010vlf.2_Intron|PLA2G15_uc002evs.3_Frame_Shift_Del_p.W51fs	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	Homo sapiens phospholipase A2, group XV (PLA2G15), mRNA.	230					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						GGGTGCGCCCTGGGGGGGCGT	0.632													-	68289855	G	-	68289855	7	5	43	1	0	1	0	1	0	0	0	0	11992	1357	47	0	707	0	PLA2G15	16	68289855	Frame_Shift_Del	DEL	G	TCGA-BR-6802-01A-11D-1882-08	179307	68289855	22064898	462	36215											
WWP2	11060	broad.mit.edu	37	chr16	69964094	69964094	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatacaccagcgagggggtgCgatactttgtggaccacaat	12	9	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr16:69964094C>T	uc002exu.1	+	14	1467	c.1378C>T	c.(1378-1380)CGA>TGA	p.R460*	WWP2_uc002exv.1_Nonsense_Mutation_p.R460*|WWP2_uc010vlm.1_Nonsense_Mutation_p.R344*|WWP2_uc010vln.1_Nonsense_Mutation_p.R78*|WWP2_uc002exw.1_Nonsense_Mutation_p.R21*|uc002exx.1_5'Flank|MIR140_hsa-mir-140|MI0000456_5'Flank	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	460	WW 4.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			lung(3)|ovary(1)|breast(1)|skin(1)	6						CGAGGGGGTGCGATACTTTGT	0.572											OREG0023910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	69964094	C	T	69964094	4	4	43	1	0	0	0	0	0	1	0	0	17413	760	27	1	1428	1	WWP2	16	69964094	Nonsense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1674239	69964094	20390659	463	36216											
MTSS1L	92154	broad.mit.edu	37	chr16	70708342	70708342	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgcgccaggctgcggTagcgacaggtggaactgggt	18	10	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr16:70708342T>C	uc002ezj.2	-	11	1180	c.920A>G	c.(919-921)TAC>TGC	p.Y307C		NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	307	Ser-rich.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1						CAGGCTGCGGTAGCGACAGGT	0.662													C	70708342	T	C	70708342	3	2	43	1	0	0	0	0	1	0	0	0	9963	1638	57	3	1343	3	MTSS1L	16	70708342	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	744248	70708342	19646411	464	36217											
PMFBP1	83449	broad.mit.edu	37	chr16	72158677	72158677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgcccacctccttatcgtCctcaaggaggttctctttta	6	14	2	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr16:72158677C>T	uc002fcc.3	-	17	2765	c.2593G>A	c.(2593-2595)GAC>AAC	p.D865N	PMFBP1_uc002fcd.2_Missense_Mutation_p.D860N|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.D715N|PMFBP1_uc010cgo.1_Missense_Mutation_p.D156N	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	865	Potential.									ovary(2)	2		Ovarian(137;0.179)				TCCTTATCGTCCTCAAGGAGG	0.572											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	72158677	C	T	72158677	3	4	43	1	0	0	0	0	1	0	0	0	12134	855	30	4	525	4	PMFBP1	16	72158677	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1450335	72158677	18196076	465	36218											
MLYCD	23417	broad.mit.edu	37	chr16	83933108	83933108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagcagcgggaggcggCggtgctgctgcaggccgagg	20	12	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr16:83933108C>T	uc002fgz.2	+	1	379	c.359C>T	c.(358-360)GCG>GTG	p.A120V		NM_012213	NP_036345	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase precursor	120					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity				0						CGGGAGGCGGCGGTGCTGCTG	0.746													T	83933108	C	T	83933108	3	4	43	1	0	0	0	0	1	0	0	0	9638	768	27	1	361	1	MLYCD	16	83933108	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	11774431	83933108	6421645	466	36219											
SLC38A8	146167	broad.mit.edu	37	chr16	84050219	84050219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccatggcgagcgtcacgGtgacccacaggatggtcagc	15	13	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr16:84050219G>A	uc002fhg.1	-	8	1067	c.1067C>T	c.(1066-1068)ACC>ATC	p.T356I		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	356	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane					0						GAGCGTCACGGTGACCCACAG	0.627													A	84050219	G	A	84050219	3	1	43	1	0	0	0	0	1	0	0	0	14610	1261	44	4	252	4	SLC38A8	16	84050219	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	117111	84050219	6304534	467	36220											
ATP2C2	9914	broad.mit.edu	37	chr16	84485577	84485577	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcggctgacgtttctcggtCttgtgggcatcattgacccc	13	12	3	2	rs146513346	by1000genomes	TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr16:84485577C>A	uc002fhx.2	+	18	1800	c.1711C>A	c.(1711-1713)CTT>ATT	p.L571I	ATP2C2_uc010chj.2_Missense_Mutation_p.L571I|ATP2C2_uc002fhy.2_Missense_Mutation_p.L588I|ATP2C2_uc002fhz.2_Missense_Mutation_p.L420I	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	571	Extracellular (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2						GTTTCTCGGTCTTGTGGGCAT	0.627													A	84485577	C	A	84485577	3	1	43	1	0	0	0	0	1	0	0	0	1144	913	32	5	1781	5	ATP2C2	16	84485577	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	435358	84485577	5869176	468	36221											
COX4I1	1327	broad.mit.edu	37	chr16	85839401	85839401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggctcgaacgagtggaagAcggttgtgggcggtgccatg	20	7	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr16:85839401A>G	uc002fje.2	+	4	468	c.304A>G	c.(304-306)ACG>GCG	p.T102A	COX4I1_uc002fjf.2_3'UTR|COX4I1_uc002fjg.1_Missense_Mutation_p.T102A|COX4I1_uc010vom.1_Missense_Mutation_p.T69A	NM_001861	NP_001852	P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	102					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding			lung(1)	1		Renal(780;0.228)				CGAGTGGAAGACGGTTGTGGG	0.547													G	85839401	A	G	85839401	3	3	43	1	0	0	0	0	1	0	0	0	3769	275	10	3	314	3	COX4I1	16	85839401	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	1353824	85839401	4515352	469	36222											
ANKRD11	29123	broad.mit.edu	37	chr16	89350965	89350965	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgacttctgcttggagtccTcatattcgtaagtaaaactt	7	9	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr16:89350965T>C	uc002fmx.1	-	9	2446	c.1985A>G	c.(1984-1986)GAG>GGG	p.E662G	ANKRD11_uc002fmy.1_Missense_Mutation_p.E662G|ANKRD11_uc002fnc.1_Missense_Mutation_p.E662G|ANKRD11_uc002fnb.1_Missense_Mutation_p.E619G	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	662	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTTGGAGTCCTCATATTCGTA	0.373													C	89350965	T	C	89350965	3	2	43	1	0	0	0	0	1	0	0	0	639	1551	54	3	6026	3	ANKRD11	16	89350965	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	3511564	89350965	1003788	470	36223											
RPA1	6117	broad.mit.edu	37	chr17	1783866	1783866	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgatggttctagacagccCgtgttggctatcaaaggagc	12	8	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr17:1783866C>T	uc002fto.2	+	12	1237	c.1122C>T	c.(1120-1122)CCC>CCT	p.P374P		NM_002945	NP_002936	P27694	RFA1_HUMAN	replication protein A1	374					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding				0						CTAGACAGCCCGTGTTGGCTA	0.453								NER					T	1783866	C	T	1783866	2	4	43	1	0	0	0	0	0	0	0	1	13536	639	23	1		1	RPA1	17	1783866	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08		1783866	79411344	471	36224											
PITPNM3	83394	broad.mit.edu	37	chr17	6376029	6376029	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctctggtagcgaggcacGctgacaggcggcaccaggtg	15	12	1	1	rs143785279		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr17:6376029G>A	uc002gdd.3	-	11	1528	c.1377C>T	c.(1375-1377)AGC>AGT	p.S459S	PITPNM3_uc010cln.2_Silent_p.S423S|PITPNM3_uc010clm.2_5'UTR|PITPNM3_uc002gdc.3_Silent_p.S50S	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	459	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGCGAGGCACGCTGACAGGCG	0.652													A	6376029	G	A	6376029	2	1	43	1	0	0	0	0	0	0	0	1	11952	1078	38	1		1	PITPNM3	17	6376029	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	4592163	6376029	74819181	472	36225											
EFNB3	1949	broad.mit.edu	37	chr17	7612525	7612525	+	Frame_Shift_Del	DEL	C	C	-													acctcccggggtgctgaaggCcccctgccccctcccagcat							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr17:7612524_7612524GC>G	uc002gis.3	+	4	1050	c.653_653GC>G	c.(652-654)ggcfs	p.G218fs		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	218					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				GGTGCTGAAGGCCCCCTGCCC	0.697													-	7612525	C	-	7612525	7	5	43	1	0	1	0	1	0	0	0	0	4957	726	26	0	672	0	EFNB3	17	7612525	Frame_Shift_Del	DEL	C	TCGA-BR-6802-01A-11D-1882-08	1236496	7612525	73582685	473	36226											
DNAH2	146754	broad.mit.edu	37	chr17	7707688	7707688	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgtcgttggagctggaGgatgccaagaagaaggtggc	18	5	0	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr17:7707688G>T	uc002giu.1	+	58	9101	c.9087G>T	c.(9085-9087)GAG>GAT	p.E3029D	DNAH2_uc010cnm.1_Missense_Mutation_p.E6D	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3029	Potential.|Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGAGCTGGAGGATGCCAAGA	0.542													T	7707688	G	T	7707688	3	4	43	1	0	0	0	0	1	0	0	0	4602	991	35	5	9317	5	DNAH2	17	7707688	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	95163	7707688	73487522	474	36227											
KDM6B	23135	broad.mit.edu	37	chr17	7753402	7753402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctcagctggagagcaaaCgggatgccttctcacctgtc	11	12	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr17:7753402C>T	uc002giw.1	+	13	3956	c.3580C>T	c.(3580-3582)CGG>TGG	p.R1194W	KDM6B_uc002gix.2_Missense_Mutation_p.R496W	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1194					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						GGAGAGCAAACGGGATGCCTT	0.607													T	7753402	C	T	7753402	3	4	43	1	0	0	0	0	1	0	0	0	8138	527	19	1	3618	1	KDM6B	17	7753402	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	45714	7753402	73441808	475	36228											
ARHGEF15	22899	broad.mit.edu	37	chr17	8216372	8216372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcgggcctccccgctgcGgacctctcgctcccgccccc	10	24	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr17:8216372G>A	uc002glc.2	+	3	855	c.734G>A	c.(733-735)CGG>CAG	p.R245Q	ARHGEF15_uc002glb.1_3'UTR|ARHGEF15_uc002gld.2_Missense_Mutation_p.R245Q|ARHGEF15_uc010vuw.1_Intron	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	245					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						TCCCCGCTGCGGACCTCTCGC	0.687													A	8216372	G	A	8216372	3	1	43	1	0	0	0	0	1	0	0	0	898	1116	39	1	740	1	ARHGEF15	17	8216372	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	462970	8216372	72978838	476	36229											
ARHGEF15	22899	broad.mit.edu	37	chr17	8218457	8218457	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtgaggatgggagtccTtctccagcaaatgctggaga	16	7	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr17:8218457T>G	uc002glc.2	+	6	1243	c.1122T>G	c.(1120-1122)CCT>CCG	p.P374P	ARHGEF15_uc002gld.2_Silent_p.P374P|ARHGEF15_uc010vuw.1_Silent_p.P263P	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	374					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						ATGGGAGTCCTTCTCCAGCAA	0.612													G	8218457	T	G	8218457	2	3	43	1	0	0	0	0	0	0	0	1	898	1596	56	5		5	ARHGEF15	17	8218457	Silent	SNP	T	TCGA-BR-6802-01A-11D-1882-08	2085	8218457	72976753	477	36230											
MFSD6L	162387	broad.mit.edu	37	chr17	8701217	8701217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccccagcaagctgagggCgaccgagaaacccatgacca	10	15	0	3	rs143056359	byFrequency	TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr17:8701217C>T	uc002glp.1	-	1	1370	c.1222G>A	c.(1222-1224)GCC>ACC	p.A408T		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing	408	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1						AAGCTGAGGGCGACCGAGAAA	0.562													T	8701217	C	T	8701217	3	4	43	1	0	0	0	0	1	0	0	0	9536	768	27	1	542	1	MFSD6L	17	8701217	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	482760	8701217	72493993	478	36231											
CDRT15	146822	broad.mit.edu	37	chr17	14139301	14139301	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggaactcttcttcccaGccttcttttaatgctctccg	6	14	4	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr17:14139301G>A	uc010vvu.1	-	3	439	c.439C>T	c.(439-441)CTG>TTG	p.L147L	CDRT15_uc010coq.2_RNA	NM_001007530	NP_001007531	Q96T59	CDRTF_HUMAN	CMT1A duplicated region transcript 15	147											0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CTTCTTCCCAGCCTTCTTTTA	0.567													A	14139301	G	A	14139301	2	1	43	1	0	0	0	0	0	0	0	1	3175	962	34	2		2	CDRT15	17	14139301	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	5438084	14139301	67055909	479	36232											
SSH2	85464	broad.mit.edu	37	chr17	27958581	27958581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctaattaaacttaggtctgCgctacttagctgggagtcct	10	9	1	0	rs144293105	by1000genomes	TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr17:27958581C>T	uc002heo.1	-	15	3550	c.3550G>A	c.(3550-3552)GCA>ACA	p.A1184T	SSH2_uc010wbh.1_Missense_Mutation_p.A1211T	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	1184					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						CTTAGGTCTGCGCTACTTAGC	0.507													T	27958581	C	T	27958581	3	4	43	1	0	0	0	0	1	0	0	0	15184	768	27	1	725	1	SSH2	17	27958581	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	13819280	27958581	53236629	480	36233											
MMP28	79148	broad.mit.edu	37	chr17	34094866	34094866	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgcagtggacggggcTctgagacgttgccatcagct	13	11	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr17:34094866T>A	uc002hjy.1	-	9	1332	c.1073A>T	c.(1072-1074)GAG>GTG	p.E358V	MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	matrix metalloproteinase 28 isoform 1	358	Hemopexin-like 1.				proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGGACGGGGCTCTGAGACGTT	0.522													A	34094866	T	A	34094866	3	1	43	1	0	0	0	0	1	0	0	0	9665	1551	54	5	497	5	MMP28	17	34094866	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	6136285	34094866	47100344	481	36234											
CCL23	6368	broad.mit.edu	37	chr17	34340329	34340329	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggttggcacagaaacgtcGccccttcttggtgaggaagc	15	10	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr17:34340329G>A	uc002hkt.1	-	4	342	c.271C>T	c.(271-273)CGA>TGA	p.R91*	CCL23_uc002hks.1_Nonsense_Mutation_p.R108*	NM_145898	NP_665905	P55773	CCL23_HUMAN	small inducible cytokine A23 isoform CKbeta8	91					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	CAGAAACGTCGCCCCTTCTTG	0.532													A	34340329	G	A	34340329	4	1	43	1	0	0	0	0	0	1	0	0	2895	1095	38	1	95	1	CCL23	17	34340329	Nonsense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	245463	34340329	46854881	482	36235											
ERBB2	2064	broad.mit.edu	37	chr17	37879658	37879658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggatcctcatcaagcgacGgcagcagaagatccggaagt	13	10	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr17:37879658G>A	uc002hso.2	+	17	2271	c.2033G>A	c.(2032-2034)CGG>CAG	p.R678Q	ERBB2_uc002hsm.2_Missense_Mutation_p.R648Q|ERBB2_uc010cwa.2_Missense_Mutation_p.R663Q|ERBB2_uc002hsp.2_Missense_Mutation_p.R481Q|ERBB2_uc010cwb.2_Missense_Mutation_p.R678Q|ERBB2_uc010wek.1_Missense_Mutation_p.R402Q	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	678	Cytoplasmic (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	ATCAAGCGACGGCAGCAGAAG	0.637		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			A	37879658	G	A	37879658	3	1	43	1	0	0	0	0	1	0	0	0	5206	1116	39	1	2099	1	ERBB2	17	37879658	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	3539329	37879658	43315552	483	36236											
KRT32	3882	broad.mit.edu	37	chr17	39623484	39623484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaggcacagctcaggccGgcagttcacgccgctggaac	13	16	2	0	rs149170177	by1000genomes	TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr17:39623484G>A	uc002hwr.2	-	1	155	c.94C>T	c.(94-96)CGG>TGG	p.R32W		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32	32	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)				AGCTCAGGCCGGCAGTTCACG	0.632													A	39623484	G	A	39623484	3	1	43	1	0	0	0	0	1	0	0	0	8468	1115	39	1	1280	1	KRT32	17	39623484	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1743826	39623484	41571726	484	36237											
STAT5B	6777	broad.mit.edu	37	chr17	40370236	40370237	+	Frame_Shift_Ins	INS	-	-	G													atgatggtggccttcacctgINSgggggggttcatgtgcacgt					rs144993426		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr17:40370235_40370236T>TG	uc002hzh.3	-	8	1271_1272	c.1102_1103A>CA	c.(1102-1104)cagfs	p.Q368fs	STAT5B_uc002hzi.3_Frame_Shift_Ins_p.Q368fs	NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	368					2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GGCCTTCACCTGGGGGGGGTTC	0.574													G	40370237	-	G	40370236	7	5	43	1	0	1	1	0	0	0	0	0	15268	1357	47	0	1305	0	STAT5B	17	40370236	Frame_Shift_Ins	INS	-	TCGA-BR-6802-01A-11D-1882-08	746752	40370236	40824974	485	36238											
SOST	50964	broad.mit.edu	37	chr17	41832889	41832889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcgcaccttgcgcgcgcGcggcgcctcaccaccgggac	14	19	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr17:41832889G>A	uc002iec.1	-	2	510	c.463C>T	c.(463-465)CGC>TGC	p.R155C		NM_025237	NP_079513	Q9BQB4	SOST_HUMAN	sclerostin precursor	155	CTCK.				negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding				0		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		TTGCGCGCGCGCGGCGCCTCA	0.711													A	41832889	G	A	41832889	3	1	43	1	0	0	0	0	1	0	0	0	14938	1087	38	1	182	1	SOST	17	41832889	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1462653	41832889	39362321	486	36239											
HOXB9	3219	broad.mit.edu	37	chr17	46703515	46703515	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggtgctccgcgtggccCggctgccgcgagctcgcgta	15	16	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr17:46703515C>T	uc002inx.2	-	1	321	c.117G>A	c.(115-117)CCG>CCA	p.P39P		NM_024017	NP_076922	P17482	HXB9_HUMAN	homeobox B9	39					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CCGCGTGGCCCGGCTGCCGCG	0.662													T	46703515	C	T	46703515	2	4	43	1	0	0	0	0	0	0	0	1	7308	639	23	1		1	HOXB9	17	46703515	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	4870626	46703515	34491695	487	36240											
MYCBPAP	84073	broad.mit.edu	37	chr17	48603504	48603504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggaccaagagtcctcagcGgaagagcatcatggaggaga	16	8	2	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr17:48603504G>A	uc010wmr.1	+	14	2336	c.2174G>A	c.(2173-2175)CGG>CAG	p.R725Q	MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	688					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AGTCCTCAGCGGAAGAGCATC	0.627													A	48603504	G	A	48603504	3	1	43	1	0	0	0	0	1	0	0	0	10019	1116	39	1	2228	1	MYCBPAP	17	48603504	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1899989	48603504	32591706	488	36241											
FTSJ3	117246	broad.mit.edu	37	chr17	61899365	61899365	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttttggtcccttagacccTgatgtcccctgactcctgcc	8	16	0	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr17:61899365T>C	uc002jbz.2	-	13	1532	c.1454A>G	c.(1453-1455)CAG>CGG	p.Q485R	FTSJ3_uc002jca.2_Missense_Mutation_p.Q485R	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	485					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						CCTTAGACCCTGATGTCCCCT	0.537													C	61899365	T	C	61899365	3	2	43	1	0	0	0	0	1	0	0	0	6089	1580	55	3	1121	3	FTSJ3	17	61899365	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	13295861	61899365	19295845	489	36242											
SEC14L1	6397	broad.mit.edu	37	chr17	75189591	75189591	+	Frame_Shift_Del	DEL	A	A	-													tggttttgaaagtacagtggAaaaaattgcaatgaaacaat					rs34381783		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr17:75189590_75189590GA>G	uc010dhc.3	+	5	753	c.433_433GA>G	c.(433-435)gaafs	p.E145fs	SEC14L1_uc021udv.1_Frame_Shift_Del_p.E145fs|SEC14L1_uc021udw.1_Frame_Shift_Del_p.E145fs|SEC14L1_uc021udx.1_Frame_Shift_Del_p.E145fs|SEC14L1_uc002jto.3_Frame_Shift_Del_p.E145fs|SEC14L1_uc010wth.2_Frame_Shift_Del_p.E145fs|SEC14L1_uc002jtm.3_Frame_Shift_Del_p.E145fs|SEC14L1_uc010wti.2_Frame_Shift_Del_p.E111fs	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	145	PRELI/MSF1.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AAGTACAGTGGAAAAAATTGC	0.378													-	75189591	A	-	75189591	7	5	43	1	0	1	0	1	0	0	0	0	13981	246	9	0	448	0	SEC14L1	17	75189591	Frame_Shift_Del	DEL	A	TCGA-BR-6802-01A-11D-1882-08	13290226	75189591	6005619	490	36243											
APCDD1	147495	broad.mit.edu	37	chr18	10487790	10487790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaacaggatgcccgggggCgctatctgctgttcaacggt	15	10	2	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr18:10487790C>T	uc002kom.3	+	5	1654	c.1300C>T	c.(1300-1302)CGC>TGC	p.R434C		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	434	Extracellular (Potential).				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding				0				READ - Rectum adenocarcinoma(15;0.08)		TGCCCGGGGGCGCTATCTGCT	0.602													T	10487790	C	T	10487790	3	4	43	1	0	0	0	0	1	0	0	0	765	768	27	1	1318	1	APCDD1	18	10487790	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08		10487790	67589458	491	36244											
CEP192	55125	broad.mit.edu	37	chr18	13069103	13069103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagacgatgcatttcttgGccaaagtggcttcctcaaga	9	11	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr18:13069103G>A	uc010xac.1	+	26	5058	c.4978G>A	c.(4978-4980)GCC>ACC	p.A1660T	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.A1185T|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.A82T|CEP192_uc002krw.2_5'Flank	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1660										ovary(4)|pancreas(1)	5						GCATTTCTTGGCCAAAGTGGC	0.438													A	13069103	G	A	13069103	3	1	43	1	0	0	0	0	1	0	0	0	3251	1203	42	2	5076	2	CEP192	18	13069103	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	2581313	13069103	65008145	492	36245											
C18orf19	125228	broad.mit.edu	37	chr18	13671878	13671878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttaaacaaggcatatgCtgtgagggcatttccactct	8	11	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr18:13671878C>T	uc010dlh.2	-	4	1000	c.568G>A	c.(568-570)GCA>ACA	p.A190T	C18orf19_uc010dlg.2_Intron|C18orf19_uc010dli.2_Missense_Mutation_p.A190T|C18orf19_uc002ksj.3_Missense_Mutation_p.A190T|C18orf19_uc010dlj.2_Intron	NM_001098801	NP_001092271	Q96ND0	CR019_HUMAN	hypothetical protein LOC125228	190	DUF1279.					integral to membrane				breast(2)	2						AAGGCATATGCTGTGAGGGCA	0.458													T	13671878	C	T	13671878	3	4	43	1	0	0	0	0	1	0	0	0	1896	797	28	2	258	2	C18orf19	18	13671878	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	602775	13671878	64405370	493	36246											
KCTD1	284252	broad.mit.edu	37	chr18	24035755	24035755	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacggagggtacacggggCgtccgcctcagttcccgccg	15	14	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr18:24035755C>T	uc002kvw.2	-	5	1286	c.726G>A	c.(724-726)ACG>ACA	p.T242T	KCTD1_uc010xbj.1_Silent_p.T850T|KCTD1_uc010xbk.1_Silent_p.T242T|KCTD1_uc002kvy.2_3'UTR	NM_001136205	NP_001129677	Q719H9	KCTD1_HUMAN	potassium channel tetramerisation domain	242					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			ovary(1)	1	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			GTACACGGGGCGTCCGCCTCA	0.507													T	24035755	C	T	24035755	2	4	43	1	0	0	0	0	0	0	0	1	8096	755	27	1		1	KCTD1	18	24035755	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	10363877	24035755	54041493	494	36247											
CDH2	1000	broad.mit.edu	37	chr18	25572682	25572682	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggatggcgaaccgtccagtAggatctccgccactgattct	11	12	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr18:25572682A>G	uc002kwg.2	-	9	1740	c.1281T>C	c.(1279-1281)CCT>CCC	p.P427P	CDH2_uc010xbn.1_Silent_p.P396P	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	427	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4						ACCGTCCAGTAGGATCTCCGC	0.522													G	25572682	A	G	25572682	2	3	43	1	0	0	0	0	0	0	0	1	3105	407	15	3		3	CDH2	18	25572682	Silent	SNP	A	TCGA-BR-6802-01A-11D-1882-08	1536927	25572682	52504566	495	36248											
C18orf34	374864	broad.mit.edu	37	chr18	30554568	30554568	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtctggaagttggccagCctcatctggctgaagaggac	13	10	4	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr18:30554568C>T	uc002kxn.2	-	21	2608	c.2466G>A	c.(2464-2466)AGG>AGA	p.R822R	C18orf34_uc010xbq.1_RNA|C18orf34_uc010dme.1_Silent_p.R286R|C18orf34_uc010xbr.1_Silent_p.R846R|C18orf34_uc010dmf.1_Silent_p.R142R|C18orf34_uc002kxo.2_Silent_p.R784R|C18orf34_uc002kxp.2_Silent_p.R822R	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	822										ovary(1)	1						AGTTGGCCAGCCTCATCTGGC	0.498													T	30554568	C	T	30554568	2	4	43	1	0	0	0	0	0	0	0	1	1902	738	26	2		2	C18orf34	18	30554568	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	4981886	30554568	47522680	496	36249											
SLC14A2	8170	broad.mit.edu	37	chr18	43262295	43262295	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctccagtttggattgccGccctgcacttggcccttctg	9	15	2	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr18:43262295G>A	uc010dnj.2	+	21	2895	c.2574G>A	c.(2572-2574)CCG>CCA	p.P858P	SLC14A2_uc002lbe.2_Silent_p.P858P	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	858	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						TTGGATTGCCGCCCTGCACTT	0.532													A	43262295	G	A	43262295	2	1	43	1	0	0	0	0	0	0	0	1	14397	1074	38	1		1	SLC14A2	18	43262295	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	12707727	43262295	34814953	497	36250											
DOK6	220164	broad.mit.edu	37	chr18	67425047	67425047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatcaatatctcttcctcGcagcgcgtactggcatcaca	6	14	3	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr18:67425047G>A	uc002lkl.2	+	7	984	c.794G>A	c.(793-795)CGC>CAC	p.R265H		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	docking protein 6	265	DKFBH motif.						insulin receptor binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TCTCTTCCTCGCAGCGCGTAC	0.398													A	67425047	G	A	67425047	3	1	43	1	0	0	0	0	1	0	0	0	4701	1087	38	1	820	1	DOK6	18	67425047	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	24162752	67425047	10652201	498	36251											
GALR1	2587	broad.mit.edu	37	chr18	74963015	74963015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccatggcctcgcccgtgGcctaccaccagggcctcttc	10	18	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr18:74963015G>A	uc002lms.3	+	1	1008	c.511G>A	c.(511-513)GCC>ACC	p.A171T		NM_001480	NP_001471	P47211	GALR1_HUMAN	galanin receptor 1	171	Helical; Name=4; (Potential).				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			lung(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CTCGCCCGTGGCCTACCACCA	0.697													A	74963015	G	A	74963015	3	1	43	1	0	0	0	0	1	0	0	0	6227	1203	42	2	513	2	GALR1	18	74963015	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	7537968	74963015	3114233	499	36252											
SALL3	27164	broad.mit.edu	37	chr18	76757125	76757125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatctccgtcatccagaacGgcggcatcccccagctcccc	8	19	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr18:76757125G>A	uc002lmt.2	+	3	3706	c.3706G>A	c.(3706-3708)GGC>AGC	p.G1236S	SALL3_uc010dra.2_Missense_Mutation_p.G771S	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	1236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CATCCAGAACGGCGGCATCCC	0.617													A	76757125	G	A	76757125	3	1	43	1	0	0	0	0	1	0	0	0	13812	1116	39	1	3716	1	SALL3	18	76757125	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1794110	76757125	1320123	500	36253											
C19orf28	126321	broad.mit.edu	37	chr19	3546376	3546376	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtccctccgccagcgccacCcaggcggcaaaggccaggat	12	17	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:3546376C>A	uc002lxz.2	-	7	1241	c.1071G>T	c.(1069-1071)TGG>TGT	p.W357C	C19orf28_uc002lxw.2_Missense_Mutation_p.W357C|C19orf28_uc002lxx.2_Missense_Mutation_p.W357C|C19orf28_uc002lxy.2_Missense_Mutation_p.W348C	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform c	357	Helical; (Potential).				transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCGCCACCCAGGCGGCAA	0.687													A	3546376	C	A	3546376	3	1	43	1	0	0	0	0	1	0	0	0	1917	624	22	5	594	5	C19orf28	19	3546376	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08		3546376	55582607	501	36254											
PLIN4	729359	broad.mit.edu	37	chr19	4504766	4504766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctgccggagaaggccgCagaccctggacagaaccccg	14	15	0	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:4504766C>T	uc002mar.1	-	6	3779	c.3779G>A	c.(3778-3780)TGC>TAC	p.C1260Y	PLIN4_uc010dub.1_Missense_Mutation_p.C284Y	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	1260						lipid particle|plasma membrane					0						GAGAAGGCCGCAGACCCTGGA	0.721													T	4504766	C	T	4504766	3	4	43	1	0	0	0	0	1	0	0	0	12092	710	25	2	298	2	PLIN4	19	4504766	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	958390	4504766	54624217	502	36255											
PTPRS	5802	broad.mit.edu	37	chr19	5240270	5240270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgatactctcctgccgCggggggctccaggacagcgt	14	12	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:5240270C>T	uc002mbv.2	-	12	1878	c.1644G>A	c.(1642-1644)CCG>CCA	p.P548P	PTPRS_uc002mbu.1_Silent_p.P535P|PTPRS_uc010xin.1_Silent_p.P535P|PTPRS_uc002mbw.2_Silent_p.P535P|PTPRS_uc002mbx.2_Silent_p.P539P|PTPRS_uc002mby.2_Silent_p.P535P	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	548	Extracellular (Potential).|Fibronectin type-III 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TCTCCTGCCGCGGGGGGCTCC	0.697													T	5240270	C	T	5240270	2	4	43	1	0	0	0	0	0	0	0	1	12811	755	27	1		1	PTPRS	19	5240270	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	735504	5240270	53888713	503	36256											
SH2D3A	10045	broad.mit.edu	37	chr19	6760769	6760769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggcctgggacagtgggCgcctgcctgtcatataactg	14	11	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:6760769C>T	uc002mft.2	-	3	493	c.299G>A	c.(298-300)CGC>CAC	p.R100H	SH2D3A_uc010xjg.1_Intron	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	100	SH2.				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(2)	2						GGACAGTGGGCGCCTGCCTGT	0.632													T	6760769	C	T	6760769	3	4	43	1	0	0	0	0	1	0	0	0	14233	768	27	1	1463	1	SH2D3A	19	6760769	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1520499	6760769	52368214	504	36257											
EMR1	2015	broad.mit.edu	37	chr19	6924840	6924840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgtgtgtctcctcttggCgaagactctcttcctcgccg	10	15	3	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:6924840C>T	uc002mfw.2	+	15	1981	c.1943C>T	c.(1942-1944)GCG>GTG	p.A648V	EMR1_uc010dvc.2_Intron|EMR1_uc010dvb.2_Missense_Mutation_p.A596V|EMR1_uc010xji.1_Missense_Mutation_p.A507V|EMR1_uc010xjj.1_Missense_Mutation_p.A471V	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	648	Helical; Name=2; (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					CTCCTCTTGGCGAAGACTCTC	0.493													T	6924840	C	T	6924840	3	4	43	1	0	0	0	0	1	0	0	0	5104	768	27	1	2001	1	EMR1	19	6924840	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	164071	6924840	52204143	505	36258											
PNPLA6	10908	broad.mit.edu	37	chr19	7607530	7607530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcaggaagaggcctccGgggggtccctggcagccccc	15	17	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:7607530G>A	uc010xjq.1	+	13	1558	c.1363G>A	c.(1363-1365)GGG>AGG	p.G455R	PNPLA6_uc002mgq.1_Missense_Mutation_p.G407R|PNPLA6_uc010xjp.1_Missense_Mutation_p.G407R|PNPLA6_uc002mgr.1_Missense_Mutation_p.G407R|PNPLA6_uc002mgs.2_Missense_Mutation_p.G446R	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	446	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						AGAGGCCTCCGGGGGGTCCCT	0.706													A	7607530	G	A	7607530	3	1	43	1	0	0	0	0	1	0	0	0	12169	1116	39	1	1409	1	PNPLA6	19	7607530	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	682690	7607530	51521453	506	36259											
MUC16	94025	broad.mit.edu	37	chr19	9085173	9085173	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgggatgcttgtttctgtAttagtagttggatgggaccc	13	6	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:9085173A>G	uc002mkp.2	-	1	6846	c.6642T>C	c.(6640-6642)AAT>AAC	p.N2214N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2214	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTGTTTCTGTATTAGTAGTTG	0.473													G	9085173	A	G	9085173	2	3	43	1	0	0	0	0	0	0	0	1	9973	446	16	3		3	MUC16	19	9085173	Silent	SNP	A	TCGA-BR-6802-01A-11D-1882-08	1477643	9085173	50043810	507	36260											
MUC16	94025	broad.mit.edu	37	chr19	9090794	9090794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aattgtgcttctgaccctttCggcacttgtttctgcattgc	8	11	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:9090794C>T	uc002mkp.2	-	1	1225	c.1021G>A	c.(1021-1023)GAA>AAA	p.E341K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	341	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTGACCCTTTCGGCACTTGTT	0.522													T	9090794	C	T	9090794	3	4	43	1	0	0	0	0	1	0	0	0	9973	893	31	1	42838	1	MUC16	19	9090794	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	5621	9090794	50038189	508	36261											
LPPR2	64748	broad.mit.edu	37	chr19	11468409	11468409	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcatcccctgctttgtcttCgtggaggtgaggacccccgt	11	13	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:11468409C>T	uc002mre.1	+	3	397	c.60C>T	c.(58-60)TTC>TTT	p.F20F	LPPR2_uc002mrf.1_Silent_p.F20F|LPPR2_uc010dxy.1_5'Flank	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN	lipid phosphate phosphatase-related protein type	20	Helical; (Potential).					integral to membrane	phosphatidate phosphatase activity			large_intestine(1)	1						GCTTTGTCTTCGTGGAGGTGA	0.582													T	11468409	C	T	11468409	2	4	43	1	0	0	0	0	0	0	0	1	8925	883	31	1		1	LPPR2	19	11468409	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	2377615	11468409	47660574	509	36262											
ZNF20	7568	broad.mit.edu	37	chr19	12243916	12243917	+	Frame_Shift_Ins	INS	-	-	GT													tccatagggtttatcctcagINStgtgtgtcttttcatgcctt							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:12243915_12243916A>AGT	uc002mtg.2	-	7	1667_1668	c.1085_1086T>ACT	c.(1084-1086)actfs	p.T362fs	ZNF20_uc002mte.2_Frame_Shift_Ins_p.T327fs|ZNF20_uc002mtf.2_Frame_Shift_Ins_p.T362fs|ZNF20_uc021upm.1_Frame_Shift_Ins_p.T359fs	NM_021143	NP_066966	P17024	ZNF20_HUMAN	Homo sapiens zinc finger protein 20 (ZNF20), transcript variant 1, mRNA.	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						GTTTATCCTCAGTGTGTGTCTT	0.455													GT	12243917	-	GT	12243916	7	5	43	1	0	1	1	0	0	0	0	0	17758	1029	36	0	517	0	ZNF20	19	12243916	Frame_Shift_Ins	INS	-	TCGA-BR-6802-01A-11D-1882-08	775507	12243916	46885067	510	36263											
BRD4	23476	broad.mit.edu	37	chr19	15383896	15383896	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaatctcgtcccagggccGctctccgcagacatgctagt	9	16	3	1	rs147477529		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:15383896G>A	uc002nar.2	-	2	237	c.15C>T	c.(13-15)AGC>AGT	p.S5S	BRD4_uc002nas.2_Silent_p.S5S|BRD4_uc002nat.3_Silent_p.S5S|BRD4_uc002nau.3_Silent_p.S5S	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	5					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)			TCCCAGGGCCGCTCTCCGCAG	0.547			T	NUT|C15orf55	lethal midline carcinoma of young people								A	15383896	G	A	15383896	2	1	43	1	0	0	0	0	0	0	0	1	1504	1078	38	1		1	BRD4	19	15383896	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	3139980	15383896	43745087	511	36264											
CIB3	117286	broad.mit.edu	37	chr19	16284237	16284237	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctgcccccctctaccTgatacgcttccagctgctcg	6	20	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:16284237T>C	uc002nds.2	-	1	50	c.50A>G	c.(49-51)CAG>CGG	p.Q17R	CIB3_uc010eae.2_5'UTR|CIB3_uc010eaf.2_RNA|CIB3_uc010eag.2_Missense_Mutation_p.Q17R	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	DNA-dependent protein kinase catalytic	17							calcium ion binding			ovary(1)	1						CCCCTCTACCTGATACGCTTC	0.567													C	16284237	T	C	16284237	3	2	43	1	0	0	0	0	1	0	0	0	3422	1594	55	3	537	3	CIB3	19	16284237	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	900341	16284237	42844746	512	36265											
PIK3R2	5296	broad.mit.edu	37	chr19	18273240	18273240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggtgaacgagaaactcCgggacactcccgatggcacc	13	12	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:18273240C>T	uc002nia.1	+	9	1545	c.1033C>T	c.(1033-1035)CGG>TGG	p.R345W	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	345	SH2 1.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						CGAGAAACTCCGGGACACTCC	0.612													T	18273240	C	T	18273240	3	4	43	1	0	0	0	0	1	0	0	0	11919	643	23	1	1063	1	PIK3R2	19	18273240	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1989003	18273240	40855743	513	36266											
NCAN	1463	broad.mit.edu	37	chr19	19337381	19337381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcagcagaggggcccccaGttagagaactggagcccacc	13	13	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:19337381G>A	uc002nlz.2	+	7	1258	c.1159G>A	c.(1159-1161)GTT>ATT	p.V387I	NCAN_uc010ecc.1_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	387					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			GGGGCCCCCAGTTAGAGAACT	0.582													A	19337381	G	A	19337381	3	1	43	1	0	0	0	0	1	0	0	0	10204	1029	36	4	1181	4	NCAN	19	19337381	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1064141	19337381	39791602	514	36267											
CILP2	148113	broad.mit.edu	37	chr19	19656302	19656302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgtgcgagaccccgagcGtccgggcacctcggcagcct	15	15	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:19656302G>A	uc002nmv.3	+	8	3033	c.2948G>A	c.(2947-2949)CGT>CAT	p.R983H	CILP2_uc002nmw.3_Missense_Mutation_p.R989H	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	983						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						GACCCCGAGCGTCCGGGCACC	0.677													A	19656302	G	A	19656302	3	1	43	1	0	0	0	0	1	0	0	0	3430	1145	40	1	2978	1	CILP2	19	19656302	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	318921	19656302	39472681	515	36268											
GMIP	51291	broad.mit.edu	37	chr19	19746260	19746260	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgaccatgaaggcttcGcactcgcggcacttggctgg	13	14	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:19746260G>A	uc002nnd.2	-	15	1641	c.1524C>T	c.(1522-1524)TGC>TGT	p.C508C	GMIP_uc010xrb.1_Silent_p.C482C|GMIP_uc010xrc.1_Silent_p.C479C	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	508	Phorbol-ester/DAG-type.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						TGAAGGCTTCGCACTCGCGGC	0.622													A	19746260	G	A	19746260	2	1	43	1	0	0	0	0	0	0	0	1	6491	1079	38	1		1	GMIP	19	19746260	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	89958	19746260	39382723	516	36269											
ZNF626	199777	broad.mit.edu	37	chr19	20808338	20808338	+	Frame_Shift_Del	DEL	T	T	-													tcatccacacttatacatccTttttttaactgtaaattgtc							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:20808337_20808337CT>C	uc002npb.1	-	3	496	c.346_346AG>G	c.(346-348)ggafs	p.G116fs	ZNF626_uc002npc.1_Frame_Shift_Del_p.G40fs	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CTTATACATCCTTTTTTTAAC	0.348													-	20808338	T	-	20808338	7	5	43	1	0	1	0	1	0	0	0	0	18047	1606	56	0	1245	0	ZNF626	19	20808338	Frame_Shift_Del	DEL	T	TCGA-BR-6802-01A-11D-1882-08	1062078	20808338	38320645	517	36270											
ZNF85	7639	broad.mit.edu	37	chr19	21117776	21117776	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tattactgtttctaagccagAcctgatcacttgtctggagc	8	10	3	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:21117776A>C	uc002npg.3	+	3	279	c.152A>C	c.(151-153)GAC>GCC	p.D51A	ZNF85_uc002npf.2_RNA|ZNF85_uc002nph.1_RNA|ZNF85_uc010ecn.2_Intron|ZNF85_uc010eco.2_5'Flank|ZNF85_uc002npi.2_5'Flank	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	51	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1						TCTAAGCCAGACCTGATCACT	0.368													C	21117776	A	C	21117776	3	2	43	1	0	0	0	0	1	0	0	0	18190	275	10	5	162	5	ZNF85	19	21117776	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	309438	21117776	38011207	518	36271											
GAPDHS	26330	broad.mit.edu	37	chr19	36033284	36033284	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgtggtggagtccacaggCgtgtacctctccatacaggc	12	12	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:36033284C>T	uc002oaf.1	+	5	629	c.513C>T	c.(511-513)GGC>GGT	p.G171G	uc010eec.1_Intron|uc002oag.2_Intron	NM_014364	NP_055179	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase,	171					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	AGTCCACAGGCGTGTACCTCT	0.637													T	36033284	C	T	36033284	2	4	43	1	0	0	0	0	0	0	0	1	6237	755	27	1		1	GAPDHS	19	36033284	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	14915508	36033284	23095699	519	36272											
ZNF567	163081	broad.mit.edu	37	chr19	37211245	37211245	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgtaatgaatgtgggaAgtcctttcgccagaaagcaa	11	6	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:37211245A>G	uc010xtl.1	+	6	1841	c.1619A>G	c.(1618-1620)AAG>AGG	p.K540R	ZNF567_uc002oeo.1_Missense_Mutation_p.K540R|ZNF567_uc010xtk.1_Missense_Mutation_p.K540R|ZNF567_uc002oep.3_Missense_Mutation_p.K509R|ZNF567_uc002oeq.1_Missense_Mutation_p.K509R	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	zinc finger protein 567	540	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAATGTGGGAAGTCCTTTCGC	0.408													G	37211245	A	G	37211245	3	3	43	1	0	0	0	0	1	0	0	0	17995	72	3	3	1536	3	ZNF567	19	37211245	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	1177961	37211245	21917738	520	36273											
LGALS14	56891	broad.mit.edu	37	chr19	40197860	40197860	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttctacactgggatggaTgaggactcagatattgcttt	10	6	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:40197860T>C	uc002omg.2	+	3	358	c.135T>C	c.(133-135)GAT>GAC	p.D45D	LGALS14_uc002omf.2_Silent_p.D74D	NM_020129	NP_064514	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14 isoform	45	Galectin.					nucleus	sugar binding			ovary(1)|skin(1)	2	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			CTGGGATGGATGAGGACTCAG	0.488													C	40197860	T	C	40197860	2	2	43	1	0	0	0	0	0	0	0	1	8741	1461	51	3		3	LGALS14	19	40197860	Silent	SNP	T	TCGA-BR-6802-01A-11D-1882-08	2986615	40197860	18931123	521	36274											
FCGBP	8857	broad.mit.edu	37	chr19	40434210	40434210	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactgaagcctcctgggtcAatcctggttgagaaaataca	9	11	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:40434210A>G	uc002omp.3	-	2	67	c.59T>C	c.(58-60)TTG>TCG	p.L20S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	20						extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTCCTGGGTCAATCCTGGTTG	0.507													G	40434210	A	G	40434210	3	3	43	1	0	0	0	0	1	0	0	0	5778	131	5	3	16298	3	FCGBP	19	40434210	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	236350	40434210	18694773	522	36275											
CIC	23152	broad.mit.edu	37	chr19	42791717	42791717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggagaaggaccacatccgGcggcccatgaatgccttcat	12	13	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:42791717G>A	uc002otf.1	+	5	643	c.603G>A	c.(601-603)CGG>CGA	p.R201R		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	201	HMG box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				ACCACATCCGGCGGCCCATGA	0.622			T	DUX4	soft tissue sarcoma								A	42791717	G	A	42791717	2	1	43	1	0	0	0	0	0	0	0	1	3424	1190	42	2		2	CIC	19	42791717	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	2357507	42791717	16337266	523	36276											
BCAM	4059	broad.mit.edu	37	chr19	45317997	45317997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacgtgcagctctccaagaCgctggagctgcgcgtggcct	14	13	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:45317997C>T	uc002ozu.2	+	8	1102	c.1058C>T	c.(1057-1059)ACG>ATG	p.T353M	BCAM_uc002ozt.1_Missense_Mutation_p.T353M	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	353	Extracellular (Potential).|Ig-like C2-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CTCTCCAAGACGCTGGAGCTG	0.672													T	45317997	C	T	45317997	3	4	43	1	0	0	0	0	1	0	0	0	1344	536	19	1	1088	1	BCAM	19	45317997	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	2526280	45317997	13810986	524	36277											
GEMIN7	79760	broad.mit.edu	37	chr19	45593386	45593386	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagacaatgcaaactccagTgaacattcccgtgcctgtgc	8	13	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:45593386T>C	uc002pap.1	+	3	165	c.14T>C	c.(13-15)GTG>GCG	p.V5A	uc002pas.2_5'Flank|GEMIN7_uc002paq.1_Missense_Mutation_p.V5A|GEMIN7_uc002par.1_Missense_Mutation_p.V5A	NM_001007270	NP_001007271	Q9H840	GEMI7_HUMAN	gemin 7	5					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		CAAACTCCAGTGAACATTCCC	0.572													C	45593386	T	C	45593386	3	2	43	1	0	0	0	0	1	0	0	0	6333	1696	59	3	16	3	GEMIN7	19	45593386	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	275389	45593386	13535597	525	36278											
LMTK3	114783	broad.mit.edu	37	chr19	49000732	49000732	+	Frame_Shift_Del	DEL	G	G	-													gggcccttcctctcgggcttGggggggtccccgtctccgct							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:49000731_49000731TG>T	uc002pjk.3	-	11	3682	c.3682_3682CA>A	c.(3682-3684)aagfs	p.K1228fs		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTCTCGGGCTTGGGGGGGTCC	0.706													-	49000732	G	-	49000732	7	5	43	1	0	1	0	1	0	0	0	0	8860	1335	47	0	808	0	LMTK3	19	49000732	Frame_Shift_Del	DEL	G	TCGA-BR-6802-01A-11D-1882-08	3407346	49000732	10128251	526	36279											
TRPM4	54795	broad.mit.edu	37	chr19	49713591	49713591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcgtcatctcccacttgcGcctcctgctcaggcaattgt	7	15	3	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:49713591G>A	uc002pmw.2	+	21	3329	c.3257G>A	c.(3256-3258)CGC>CAC	p.R1086H	TRPM4_uc010emu.2_Missense_Mutation_p.R941H|TRPM4_uc010yak.1_Missense_Mutation_p.R550H|TRPM4_uc002pmx.2_Missense_Mutation_p.R912H|TRPM4_uc010emv.2_Missense_Mutation_p.R971H|TRPM4_uc010yal.1_Missense_Mutation_p.R732H|TRPM4_uc002pmy.2_Missense_Mutation_p.R428H	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	1086	Cytoplasmic (Potential).|Calmodulin-binding.				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCCCACTTGCGCCTCCTGCTC	0.622													A	49713591	G	A	49713591	3	1	43	1	0	0	0	0	1	0	0	0	16585	1087	38	1	3339	1	TRPM4	19	49713591	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	712859	49713591	9415392	527	36280											
PRMT1	3276	broad.mit.edu	37	chr19	50185189	50185189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctgaaggacgaggtgcGcaccctcacttaccgcaact	11	13	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:50185189G>A	uc010enf.1	+	4	257	c.215G>A	c.(214-216)CGC>CAC	p.R72H	PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Missense_Mutation_p.R48H|PRMT1_uc002ppe.2_Missense_Mutation_p.R54H|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Missense_Mutation_p.R19H|PRMT1_uc010yba.1_RNA	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	HMT1 hnRNP methyltransferase-like 2 isoform 1	53						cytoplasm	protein methyltransferase activity			ovary(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		GACGAGGTGCGCACCCTCACT	0.597													A	50185189	G	A	50185189	3	1	43	1	0	0	0	0	1	0	0	0	12535	1087	38	1	229	1	PRMT1	19	50185189	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	471598	50185189	8943794	528	36281											
TSKS	60385	broad.mit.edu	37	chr19	50266392	50266392	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttggcccggctggtcaccCtccggggagcctctgggact	14	16	2	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:50266392C>A	uc002ppm.2	-	1	124	c.113G>T	c.(112-114)AGG>ATG	p.R38M		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	38							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCTGGTCACCCTCCGGGGAGC	0.622													A	50266392	C	A	50266392	3	1	43	1	0	0	0	0	1	0	0	0	16623	681	24	5	1709	5	TSKS	19	50266392	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	81203	50266392	8862591	529	36282											
PTOV1	53635	broad.mit.edu	37	chr19	50360277	50360277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccccctgtgaggtgcgcGtgctcatgctcctgtactcg	11	15	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:50360277G>A	uc002pqf.1	+	6	774	c.604G>A	c.(604-606)GTG>ATG	p.V202M	PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Missense_Mutation_p.V170M|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	202	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TGAGGTGCGCGTGCTCATGCT	0.657													A	50360277	G	A	50360277	3	1	43	1	0	0	0	0	1	0	0	0	12769	1145	40	1	626	1	PTOV1	19	50360277	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	93885	50360277	8768706	530	36283											
NR1H2	7376	broad.mit.edu	37	chr19	50882274	50882274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagccctggcccctgggcGcagacccccagtcccgagat	11	20	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:50882274G>A	uc010enw.2	+	8	1042	c.766G>A	c.(766-768)GCA>ACA	p.A256T	NR1H2_uc002prv.3_Intron|NR1H2_uc002prz.3_Intron|NR1H2_uc002psa.3_Missense_Mutation_p.A158T	NM_007121	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	255	Ligand-binding (Potential).				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCCCCTGGGCGCAGACCCCCA	0.632													A	50882274	G	A	50882274	3	1	43	1	0	0	0	0	1	0	0	0	10617	1087	38	1	781	1	NR1H2	19	50882274	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	521997	50882274	8246709	531	36284											
POLD1	5424	broad.mit.edu	37	chr19	50905604	50905604	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcccagcttcgcgccctaCgaggccaacgtcgactttga	10	16	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:50905604C>T	uc002psb.3	+	6	788	c.732C>T	c.(730-732)TAC>TAT	p.Y244Y	POLD1_uc002psc.3_Silent_p.Y244Y|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Silent_p.Y244Y	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	244					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TCGCGCCCTACGAGGCCAACG	0.711								DNA_polymerases_(catalytic_subunits)					T	50905604	C	T	50905604	2	4	43	1	0	0	0	0	0	0	0	1	12190	547	19	1		1	POLD1	19	50905604	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	23330	50905604	8223379	532	36285											
IGLON5	402665	broad.mit.edu	37	chr19	51826934	51826934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgcttcatcgacgagcaCgtgacccgcgtggcctggct	13	14	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:51826934C>T	uc002pwc.2	+	3	177	c.177C>T	c.(175-177)CAC>CAT	p.H59H		NM_001101372	NP_001094842	A6NGN9	IGLO5_HUMAN	IgLON family member 5 precursor	59	Ig-like C2-type 1.					extracellular region					0						TCGACGAGCACGTGACCCGCG	0.652													T	51826934	C	T	51826934	2	4	43	1	0	0	0	0	0	0	0	1	7595	535	19	1		1	IGLON5	19	51826934	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	921330	51826934	7302049	533	36286											
ZNF480	147657	broad.mit.edu	37	chr19	52825647	52825647	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgtggaaaggtctttattCaaaattcgcacctagcacaa	7	8	2	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:52825647C>T	uc010ydl.1	+	5	1214	c.1144C>T	c.(1144-1146)CAA>TAA	p.Q382*	ZNF480_uc002pyv.2_Nonsense_Mutation_p.Q305*|ZNF480_uc010ydm.1_Nonsense_Mutation_p.Q339*|ZNF480_uc010epn.2_Nonsense_Mutation_p.Q213*|uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	382	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GGTCTTTATTCAAAATTCGCA	0.363													T	52825647	C	T	52825647	4	4	43	1	0	0	0	0	0	1	0	0	17932	827	29	4	1158	4	ZNF480	19	52825647	Nonsense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	998713	52825647	6303336	534	36287											
EPN1	29924	broad.mit.edu	37	chr19	56203248	56203248	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacctcggacccctggggCggcccccctgtccctccagc	10	23	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:56203248C>T	uc002qlw.2	+	7	1233	c.891C>T	c.(889-891)GGC>GGT	p.G297G	EPN1_uc002qlv.2_Silent_p.G272G|EPN1_uc010etd.2_Silent_p.G297G|EPN1_uc002qlx.2_Silent_p.G383G	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	epsin 1 isoform b	297	Ala/Gly/Pro-rich.|8 X 3 AA repeats of [ED]-P-W.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding				0		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		ACCCCTGGGGCGGCCCCCCTG	0.761													T	56203248	C	T	56203248	2	4	43	1	0	0	0	0	0	0	0	1	5185	755	27	1		1	EPN1	19	56203248	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	3377601	56203248	2925735	535	36288											
NLRP5	126206	broad.mit.edu	37	chr19	56539649	56539649	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgccaccaccccaggagacAccctggacgccttccactgt	8	18	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:56539649A>C	uc002qmj.2	+	7	2050	c.2050A>C	c.(2050-2052)ACC>CCC	p.T684P	NLRP5_uc002qmi.2_Missense_Mutation_p.T665P	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	684						mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCCAGGAGACACCCTGGACGC	0.547													C	56539649	A	C	56539649	3	2	43	1	0	0	0	0	1	0	0	0	10480	159	6	5	2076	5	NLRP5	19	56539649	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	336401	56539649	2589334	536	36289											
ZNF583	147949	broad.mit.edu	37	chr19	56935314	56935314	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgatcaacatcagagggtTcatactggagagaaacccta	9	9	3	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:56935314T>G	uc010ygl.1	+	5	1452	c.1287T>G	c.(1285-1287)GTT>GTG	p.V429V	ZNF583_uc002qnc.2_Silent_p.V429V|ZNF583_uc010ygm.1_Silent_p.V429V	NM_001159860	NP_001153332	Q96ND8	ZN583_HUMAN	zinc finger protein 583	429	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ATCAGAGGGTTCATACTGGAG	0.393													G	56935314	T	G	56935314	2	3	43	1	0	0	0	0	0	0	0	1	18012	1770	62	5		5	ZNF583	19	56935314	Silent	SNP	T	TCGA-BR-6802-01A-11D-1882-08	395665	56935314	2193669	537	36290											
ZIM3	114026	broad.mit.edu	37	chr19	57646555	57646556	+	Frame_Shift_Ins	INS	-	-	T													ggcttttccccagtatggatINSttttttatgttgaatgaggt							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr19:57646554_57646555A>AT	uc002qnz.1	-	4	1536_1537	c.1150_1151T>AT	c.(1150-1152)atcfs	p.I384fs		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K383Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCAGTATGGATTTTTTTATGT	0.391													T	57646556	-	T	57646555	7	5	43	1	0	1	1	0	0	0	0	0	17682	1493	52	0	272	0	ZIM3	19	57646555	Frame_Shift_Ins	INS	-	TCGA-BR-6802-01A-11D-1882-08	711241	57646555	1482428	538	36291											
GPCPD1	56261	broad.mit.edu	37	chr20	5574004	5574004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagtaccctttgaagtagCgatactgaactgatactcct	7	9	0	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr20:5574004C>T	uc002wme.3	-	4	413	c.200G>A	c.(199-201)CGC>CAC	p.R67H		NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	hypothetical protein LOC56261	67	CBM20.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity				0						TTTGAAGTAGCGATACTGAAC	0.353													T	5574004	C	T	5574004	3	4	43	1	0	0	0	0	1	0	0	0	6603	768	27	1	1886	1	GPCPD1	20	5574004	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08		5574004	57451516	539	36292											
KIF16B	55614	broad.mit.edu	37	chr20	16488691	16488691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtccggttgatattgcccGcatccataagttcttctacg	9	11	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr20:16488691G>A	uc002wpg.1	-	7	769	c.611C>T	c.(610-612)GCG>GTG	p.A204V	KIF16B_uc010gch.1_Missense_Mutation_p.A204V|KIF16B_uc010gci.1_Missense_Mutation_p.A204V|KIF16B_uc010gcj.1_Missense_Mutation_p.A204V	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	204	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						GATATTGCCCGCATCCATAAG	0.448													A	16488691	G	A	16488691	3	1	43	1	0	0	0	0	1	0	0	0	8278	1087	38	1	3422	1	KIF16B	20	16488691	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	10914687	16488691	46536829	540	36293											
RRBP1	6238	broad.mit.edu	37	chr20	17599388	17599388	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggagaaaaccagtccccGtgagttagcgccgaaacata	10	10	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr20:17599388G>A	uc010zrp.1	-	1	1075	c.-168C>T	c.(-170--166)CACGG>CATGG		RRBP1_uc002wpt.1_Intron|RRBP1_uc002wpu.2_Intron|RRBP1_uc002wpv.1_Intron|RRBP1_uc002wpw.1_Intron|RRBP1_uc010gcl.1_Intron			Q9P2E9	RRBP1_HUMAN	Homo sapiens mRNA for KIAA1398 protein, partial cds.						protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						ACCAGTCCCCGTGAGTTAGCG	0.527													A	17599388	G	A	17599388	1	1	43	1	0	0	0	0	0	0	0	0	13678	1160	40	1		1	RRBP1	20	17599388	Translation_Start_Site	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1110697	17599388	45426132	541	36294											
DLGAP4	22839	broad.mit.edu	37	chr20	35060650	35060650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagggtggcatggaggacgGcaagggccggagggccaaaa	20	7	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr20:35060650G>A	uc002xff.2	+	3	965	c.530G>A	c.(529-531)GGC>GAC	p.G177D	DLGAP4_uc010zvp.1_Missense_Mutation_p.G177D	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	177					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ATGGAGGACGGCAAGGGCCGG	0.642													A	35060650	G	A	35060650	3	1	43	1	0	0	0	0	1	0	0	0	4562	1203	42	2	532	2	DLGAP4	20	35060650	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	17461262	35060650	27964870	542	36295											
TTPAL	79183	broad.mit.edu	37	chr20	43108886	43108886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgacgatgccttcctgctgCgcttcctccgagcccgcaag	10	17	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr20:43108886C>T	uc002xmc.1	+	3	371	c.247C>T	c.(247-249)CGC>TGC	p.R83C	TTPAL_uc002xmd.1_Missense_Mutation_p.R83C|TTPAL_uc010ggr.1_5'UTR	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	83						intracellular	transporter activity			breast(1)	1						CTTCCTGCTGCGCTTCCTCCG	0.567													T	43108886	C	T	43108886	3	4	43	1	0	0	0	0	1	0	0	0	16734	768	27	1	249	1	TTPAL	20	43108886	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	8048236	43108886	19916634	543	36296											
ELMO2	63916	broad.mit.edu	37	chr20	45004410	45004410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatctcagttttgatggggCggttccctcggatcacatgc	11	12	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr20:45004410C>T	uc002xrt.1	-	12	1037	c.827G>A	c.(826-828)CGC>CAC	p.R276H	ELMO2_uc010zxq.1_Missense_Mutation_p.R8H|ELMO2_uc002xrs.1_Missense_Mutation_p.R23H|ELMO2_uc002xru.1_Missense_Mutation_p.R276H|ELMO2_uc010zxr.1_Missense_Mutation_p.R288H|ELMO2_uc010zxs.1_Missense_Mutation_p.R93H|ELMO2_uc002xrv.1_5'UTR|ELMO2_uc002xrw.2_Missense_Mutation_p.R93H|ELMO2_uc002xrx.1_Missense_Mutation_p.R276H	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	276					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				TTTGATGGGGCGGTTCCCTCG	0.478													T	45004410	C	T	45004410	3	4	43	1	0	0	0	0	1	0	0	0	5066	768	27	1	1379	1	ELMO2	20	45004410	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1895524	45004410	18021110	544	36297											
TP53RK	112858	broad.mit.edu	37	chr20	45315634	45315634	+	Frame_Shift_Del	DEL	G	G	-													cacaatgttcagctgttccaGggggggtttcaggagcatgt							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr20:45315633_45315633AG>A	uc002xsk.3	-	1	744	c.521_521CT>T	c.(520-522)ctgfs	p.L174fs	SLC13A3_uc002xsg.2_5'Flank|SLC13A3_uc010gho.2_5'Flank|TP53RK_uc002xsj.3_3'UTR	NM_033550	NP_291028	Q96S44	PRPK_HUMAN	Homo sapiens TP53 regulating kinase (TP53RK), mRNA.	174	Protein kinase.				lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L174fs*23(2)		kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CAGCTGTTCCAGGGGGGGTTT	0.493													-	45315634	G	-	45315634	7	5	43	1	0	1	0	1	0	0	0	0	16387	991	35	0	245	0	TP53RK	20	45315634	Frame_Shift_Del	DEL	G	TCGA-BR-6802-01A-11D-1882-08	311224	45315634	17709886	545	36298											
ARFGEF2	10564	broad.mit.edu	37	chr20	47639665	47639665	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaccattgacaacattgtgTtctaccctgcgacgagcaaa	8	11	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr20:47639665T>C	uc002xtx.3	+	35	4854	c.4702T>C	c.(4702-4704)TTC>CTC	p.F1568L	ARFGEF2_uc010zyf.1_Missense_Mutation_p.F861L	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	1568					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CAACATTGTGTTCTACCCTGC	0.478													C	47639665	T	C	47639665	3	2	43	1	0	0	0	0	1	0	0	0	853	1725	60	3	4840	3	ARFGEF2	20	47639665	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	2324031	47639665	15385855	546	36299											
PMEPA1	56937	broad.mit.edu	37	chr20	56227349	56227350	+	Frame_Shift_Ins	INS	-	-	G													tgatgcccgagttactgctgINSggggggcaggggccgcccag							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr20:56227348_56227349T>TG	uc002xyq.3	-	3	1017_1018	c.624_625A>CA	c.(622-627)cccagcfs	p.P208fs	PMEPA1_uc002xyr.3_Frame_Shift_Ins_p.P158fs|PMEPA1_uc002xys.3_Frame_Shift_Ins_p.P173fs|PMEPA1_uc002xyt.3_Frame_Shift_Ins_p.P158fs	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	208					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GAGTTACTGCTGGGGGGGCAGG	0.683													G	56227350	-	G	56227349	7	5	43	1	0	1	1	0	0	0	0	0	12132	1335	47	0	243	0	PMEPA1	20	56227349	Frame_Shift_Ins	INS	-	TCGA-BR-6802-01A-11D-1882-08	8587684	56227349	6798171	547	36300											
SYCP2	10388	broad.mit.edu	37	chr20	58494655	58494655	+	Splice_Site	DEL	A	A	-													ttcaaaccaggcaaccatgtAaaaaaaggaatgaacttatt							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr20:58494654_58494654TA>T	uc002yaz.3	-	5	437	c.298_splice	c.e5-1	p.M100_splice	SYCP2_uc010gju.1_Splice_Site_p.M1_splice	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	100					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GGCAACCATGTAAAAAAAGGA	0.294													-	58494655	A	-	58494655	8	5	43	1	0	1	0	1	0	0	1	0	15429	377	13	0		0	SYCP2	20	58494655	Splice_Site	DEL	A	TCGA-BR-6802-01A-11D-1882-08	2267306	58494655	4530865	548	36301											
TAF4	6874	broad.mit.edu	37	chr20	60578327	60578327	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacggcgggtttcaccacaGggactacaaaacaaacacac	8	13	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr20:60578327G>T	uc002ybs.2	-	9	2375	c.2375C>A	c.(2374-2376)CCT>CAT	p.P792H		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	792					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TTTCACCACAGGGACTACAAA	0.493													T	60578327	G	T	60578327	3	4	43	1	0	0	0	0	1	0	0	0	15523	1000	35	5	910	5	TAF4	20	60578327	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	2083672	60578327	2447193	549	36302											
SLC17A9	63910	broad.mit.edu	37	chr20	61598711	61598711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtgggtgtgtgtctaggCggctacttgatggagaccac	16	8	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr20:61598711C>T	uc002yea.3	+	13	1354	c.1170C>T	c.(1168-1170)GGC>GGT	p.G390G	SLC17A9_uc002ydz.3_Silent_p.G384G|SLC17A9_uc011aap.1_3'UTR	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	vesicular nucleotide transporter SLC17A9	390					exocytosis|transmembrane transport	integral to membrane	transporter activity			ovary(1)|skin(1)	2						TGTGTCTAGGCGGCTACTTGA	0.637													T	61598711	C	T	61598711	2	4	43	1	0	0	0	0	0	0	0	1	14424	755	27	1		1	SLC17A9	20	61598711	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1020384	61598711	1426809	550	36303											
KRTAP21-1	337977	broad.mit.edu	37	chr21	32127620	32127620	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagttccatagccacagccaCagccagagccagagccatag	9	15	0	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr21:32127620C>G	uc011adi.1	-	1	77	c.77G>C	c.(76-78)TGT>TCT	p.C26S		NM_181619	NP_853650	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	26						intermediate filament				breast(1)	1						gccacagccacagccagagcc	0.109													G	32127620	C	G	32127620	3	3	43	1	0	0	0	0	1	0	0	0	8538	478	17	5	164	5	KRTAP21-1	21	32127620	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08		32127620	16002275	551	36304											
C21orf45	54069	broad.mit.edu	37	chr21	33651281	33651281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcgccgcactcacagccGccagcgcatcctctgctaca	8	18	2	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr21:33651281G>A	uc002ypi.2	-	1	96	c.45C>T	c.(43-45)GGC>GGT	p.G15G	C21orf45_uc011adn.1_Silent_p.G15G	NM_018944	NP_061817	Q9NYP9	MS18A_HUMAN	chromosome 21 open reading frame 45	15					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm					0						ACTCACAGCCGCCAGCGCATC	0.617													A	33651281	G	A	33651281	2	1	43	1	0	0	0	0	0	0	0	1	2126	1074	38	1		1	C21orf45	21	33651281	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1523661	33651281	14478614	552	36305											
MRAP	56246	broad.mit.edu	37	chr21	33679016	33679016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctcttcctcatcttgCtctacatgtcctggtccgcc	7	16	4	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr21:33679016C>T	uc002ypj.2	+	4	359	c.172C>T	c.(172-174)CTC>TTC	p.L58F	MRAP_uc002ypk.2_Missense_Mutation_p.L58F|MRAP_uc011ado.1_5'UTR|MRAP_uc002ypl.2_Missense_Mutation_p.L58F|uc002ypm.2_RNA	NM_178817	NP_848932	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	58	Helical; (Potential).				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding				0						CCTCATCTTGCTCTACATGTC	0.562													T	33679016	C	T	33679016	3	4	43	1	0	0	0	0	1	0	0	0	9753	797	28	2	178	2	MRAP	21	33679016	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	27735	33679016	14450879	553	36306											
DOPEY2	9980	broad.mit.edu	37	chr21	37665815	37665815	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acagatagcccaaggatcttAaaacaactggaagaatgcat	8	8	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr21:37665815A>T	uc002yvg.2	+	37	6922	c.6843A>T	c.(6841-6843)TTA>TTT	p.L2281F	DOPEY2_uc011aeb.1_Missense_Mutation_p.L2230F	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	2281					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						CAAGGATCTTAAAACAACTGG	0.408													T	37665815	A	T	37665815	3	4	43	1	0	0	0	0	1	0	0	0	4708	359	13	5	6985	5	DOPEY2	21	37665815	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	3986799	37665815	10464080	554	36307											
DYRK1A	1859	broad.mit.edu	37	chr21	38862544	38862544	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttgaaatgctgtcctacaaCctctatgacttgctgagaaa	7	9	1	3	rs1049784		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr21:38862544C>G	uc002ywk.2	+	6	807	c.732C>G	c.(730-732)AAC>AAG	p.N244K	DYRK1A_uc002ywi.2_Missense_Mutation_p.N244K|DYRK1A_uc002ywj.2_Missense_Mutation_p.N235K|DYRK1A_uc002ywl.2_Missense_Mutation_p.N244K|DYRK1A_uc002ywm.2_Missense_Mutation_p.N244K|DYRK1A_uc011aei.1_Missense_Mutation_p.N5K	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	244	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			ovary(2)|lung(1)|breast(1)	4						TGTCCTACAACCTCTATGACT	0.393													G	38862544	C	G	38862544	3	3	43	1	0	0	0	0	1	0	0	0	4854	506	18	5	754	5	DYRK1A	21	38862544	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1196729	38862544	9267351	555	36308											
UBASH3A	53347	broad.mit.edu	37	chr21	43833294	43833294	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagacgtcatccgggaattCgccatgaccttcgccacgga	11	14	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr21:43833294C>T	uc002zbe.2	+	4	552	c.516C>T	c.(514-516)TTC>TTT	p.F172F	UBASH3A_uc002zbf.2_Silent_p.F172F|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Silent_p.F172F	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	172						cytosol|nucleus				ovary(3)	3						TCCGGGAATTCGCCATGACCT	0.622													T	43833294	C	T	43833294	2	4	43	1	0	0	0	0	0	0	0	1	16836	883	31	1		1	UBASH3A	21	43833294	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	4970750	43833294	4296601	556	36309											
RSPH1	89765	broad.mit.edu	37	chr21	43906511	43906511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaccactctccagtgtagGtgtcattattgatgtagtag	9	8	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr21:43906511G>A	uc002zbg.2	-	4	440	c.335C>T	c.(334-336)ACC>ATC	p.T112I		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	testis-specific gene A2	112	MORN 4.				meiosis	cytosol|nucleus				ovary(1)	1						TCCAGTGTAGGTGTCATTATT	0.453													A	43906511	G	A	43906511	3	1	43	1	0	0	0	0	1	0	0	0	13702	1261	44	4	618	4	RSPH1	21	43906511	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	73217	43906511	4223384	557	36310											
ITGB2	3689	broad.mit.edu	37	chr21	46308725	46308725	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctgcccttcacggggtTgttcgacagctgcaggcccg	14	14	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr21:46308725T>G	uc002zgd.2	-	13	2007	c.1963A>C	c.(1963-1965)AAC>CAC	p.N655H	ITGB2_uc002zge.2_Missense_Mutation_p.N655H|ITGB2_uc002zgf.3_Missense_Mutation_p.N655H|ITGB2_uc011afl.1_Missense_Mutation_p.N577H|ITGB2_uc010gpw.2_Missense_Mutation_p.N598H|ITGB2_uc002zgg.2_Missense_Mutation_p.N655H	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	655	Extracellular (Potential).				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	TTCACGGGGTTGTTCGACAGC	0.652													G	46308725	T	G	46308725	3	3	43	1	0	0	0	0	1	0	0	0	7894	1812	63	5	358	5	ITGB2	21	46308725	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	2402214	46308725	1821170	558	36311											
COL6A1	1291	broad.mit.edu	37	chr21	47423388	47423388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaactttgacaccaccaagCgcttcgccaagcgcctggcc	8	17	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr21:47423388C>T	uc002zhu.1	+	35	2650	c.2548C>T	c.(2548-2550)CGC>TGC	p.R850C	COL6A1_uc010gqd.1_Missense_Mutation_p.R181C|COL6A1_uc002zhv.1_Missense_Mutation_p.R181C|COL6A1_uc002zhw.1_5'UTR	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	850	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CACCACCAAGCGCTTCGCCAA	0.706													T	47423388	C	T	47423388	3	4	43	1	0	0	0	0	1	0	0	0	3699	768	27	1	2686	1	COL6A1	21	47423388	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1114663	47423388	706507	559	36312											
CHEK2	11200	broad.mit.edu	37	chr22	29121017	29121017	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaattgttattcaaaggacgGcgttttcctttccctacaag	8	9	1	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr22:29121017G>T	uc003adu.1	-	4	612	c.540C>A	c.(538-540)CGC>CGA	p.R180R	CHEK2_uc003ads.1_Intron|CHEK2_uc010gvh.1_Intron|CHEK2_uc010gvi.1_Silent_p.R180R|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Silent_p.R223R|CHEK2_uc003adv.1_Silent_p.R180R|CHEK2_uc003adw.1_Silent_p.R180R|CHEK2_uc003adx.1_5'UTR|CHEK2_uc003ady.1_Silent_p.R180R|CHEK2_uc003adz.1_Intron	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	180			R -> C (in prostate cancer; somatic mutation).|R -> H (in prostate cancer; somatic mutation).		cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						TCAAAGGACGGCGTTTTCCTT	0.348			F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer				T	29121017	G	T	29121017	2	4	43	1	0	0	0	0	0	0	0	1	3335	1190	42	5		5	CHEK2	22	29121017	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08		29121017	22183549	560	36313											
ASCC2	84164	broad.mit.edu	37	chr22	30218382	30218382	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagagcacgcagaggtccagGatctttggaatgtcaaagag	13	7	2	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr22:30218382G>A	uc003agr.2	-	5	588	c.483C>T	c.(481-483)ATC>ATT	p.I161I	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Silent_p.I161I|ASCC2_uc011akr.1_Silent_p.I85I	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			AGAGGTCCAGGATCTTTGGAA	0.473													A	30218382	G	A	30218382	2	1	43	1	0	0	0	0	0	0	0	1	1032	1164	41	4		4	ASCC2	22	30218382	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1097365	30218382	21086184	561	36314											
MPST	4357	broad.mit.edu	37	chr22	37420785	37420785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagaacctggaatcccggCgcttccaggtggtggactcc	14	12	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr22:37420785C>T	uc003aqj.2	+	3	941	c.529C>T	c.(529-531)CGC>TGC	p.R177C	MPST_uc003aqi.1_Missense_Mutation_p.R177C|MPST_uc003aqm.2_Missense_Mutation_p.R177C|MPST_uc011amu.1_Missense_Mutation_p.R197C|MPST_uc003aql.2_Missense_Mutation_p.R177C|MPST_uc003aqn.2_Missense_Mutation_p.R177C|MPST_uc003aqo.2_Missense_Mutation_p.R177C	NM_001130517	NP_001123989	P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase isoform 2	177	Rhodanese 2.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity				0						GGAATCCCGGCGCTTCCAGGT	0.682													T	37420785	C	T	37420785	3	4	43	1	0	0	0	0	1	0	0	0	9744	768	27	1	595	1	MPST	22	37420785	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	7202403	37420785	13883781	562	36315											
MKL1	57591	broad.mit.edu	37	chr22	40807837	40807837	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtgctgccaggggggAcccacagactgtcttcgggg	17	11	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr22:40807837A>G	uc003ayv.1	-	12	2560	c.2353T>C	c.(2353-2355)TCC>CCC	p.S785P	MKL1_uc003ayw.1_Missense_Mutation_p.S785P|MKL1_uc010gye.1_Missense_Mutation_p.V788A|MKL1_uc010gyf.1_Missense_Mutation_p.S735P	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	785	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GCCAGGGGGGACCCACAGACT	0.597			T	RBM15	acute megakaryocytic leukemia								G	40807837	A	G	40807837	3	3	43	1	0	0	0	0	1	0	0	0	9601	275	10	3	446	3	MKL1	22	40807837	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	3387052	40807837	10496729	563	36316											
RANGAP1	5905	broad.mit.edu	37	chr22	41676938	41676938	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaacttccagaaactcaccAtcttctgcagtgttgagttt	6	11	3	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr22:41676938A>G	uc003azs.2	-	1	1581	c.111T>C	c.(109-111)GAT>GAC	p.D37D	RANGAP1_uc003azt.2_Silent_p.D37D|RANGAP1_uc003azu.2_Silent_p.D37D|RANGAP1_uc011aoz.1_5'Flank	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	37					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						GAAACTCACCATCTTCTGCAG	0.413													G	41676938	A	G	41676938	2	3	43	1	0	0	0	0	0	0	0	1	13033	231	8	3		3	RANGAP1	22	41676938	Silent	SNP	A	TCGA-BR-6802-01A-11D-1882-08	869101	41676938	9627628	564	36317											
PARVB	29780	broad.mit.edu	37	chr22	44514998	44514998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaagacctgtatgacggCcaggtgctgcagaagctctt	14	9	1	3			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr22:44514998C>T	uc003ben.2	+	4	406	c.354C>T	c.(352-354)GGC>GGT	p.G118G	PARVB_uc003bem.2_Silent_p.G151G|PARVB_uc010gzn.2_Silent_p.G66G|PARVB_uc003beo.2_Silent_p.G81G	NM_013327	NP_037459	Q9HBI1	PARVB_HUMAN	parvin, beta isoform b	118	CH 1.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding				0		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGTATGACGGCCAGGTGCTGC	0.597													T	44514998	C	T	44514998	2	4	43	1	0	0	0	0	0	0	0	1	11469	726	26	2		2	PARVB	22	44514998	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	2838060	44514998	6789568	565	36318											
PLXNB2	23654	broad.mit.edu	37	chr22	50726198	50726198	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctggcctcctcggcccgCggacactcggccttccgggt	14	17	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr22:50726198C>T	uc003bkv.3	-	7	1612	c.1506G>A	c.(1504-1506)CCG>CCA	p.P502P		NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	502	Extracellular (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCGGCCCGCGGACACTCGG	0.716													T	50726198	C	T	50726198	2	4	43	1	0	0	0	0	0	0	0	1	12124	755	27	1		1	PLXNB2	22	50726198	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	6211200	50726198	578368	566	36319											
LMF2	91289	broad.mit.edu	37	chr22	50944598	50944598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtggtgtgcgaaccaggCggcgggcgtgggcaggcact	20	10	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chr22:50944598C>T	uc003blp.2	-	5	671	c.640G>A	c.(640-642)GCC>ACC	p.A214T	LMF2_uc010hba.2_Missense_Mutation_p.A36T|LMF2_uc003blo.2_Missense_Mutation_p.A189T|NCAPH2_uc003blq.3_5'Flank|NCAPH2_uc003blv.2_5'Flank|NCAPH2_uc003blr.3_5'Flank|NCAPH2_uc010hbb.2_5'Flank|NCAPH2_uc003blu.3_5'Flank|NCAPH2_uc003bls.3_5'Flank|NCAPH2_uc003blt.3_5'Flank|NCAPH2_uc003blw.3_5'Flank|NCAPH2_uc003blx.3_5'Flank|NCAPH2_uc003bly.3_5'Flank	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	214						endoplasmic reticulum membrane|integral to membrane				breast(1)	1		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCGAACCAGGCGGCGGGCGTG	0.672													T	50944598	C	T	50944598	3	4	43	1	0	0	0	0	1	0	0	0	8846	768	27	1	1523	1	LMF2	22	50944598	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	218400	50944598	359968	567	36320											
PPP2R3B	28227	broad.mit.edu	37	chrX	295141	295141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtccccgcatgcgtactcGtacaggtccacggcgcccag	11	17	0	0	rs144810281		TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chrX:295141G>A	uc004cpg.2	-	13	1890	c.1689C>T	c.(1687-1689)TAC>TAT	p.Y563Y	PPP2R3B_uc004cpf.2_Silent_p.Y164Y	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	563					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATGCGTACTCGTACAGGTCCA	0.741													A	295141	G	A	295141	2	1	43	1	0	0	0	0	0	0	0	1	12389	1140	40	1		1	PPP2R3B	23	295141	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08		295141	154975419	568	36321											
PIGA	5277	broad.mit.edu	37	chrX	15349629	15349629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagccccattgtcttggCgtggaagagagcatcatggg	14	9	2	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chrX:15349629C>T	uc004cwr.2	-	2	524	c.424G>A	c.(424-426)GCC>ACC	p.A142T	PIGA_uc004cwq.2_Intron|PIGA_uc010nev.2_Intron|PIGA_uc004cws.2_Intron|PIGA_uc011miq.1_Intron|PIGA_uc010new.1_Intron	NM_002641	NP_002632	P37287	PIGA_HUMAN	phosphatidylinositol	142	Cytoplasmic (Potential).				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding				0	Hepatocellular(33;0.183)					ATTGTCTTGGCGTGGAAGAGA	0.468													T	15349629	C	T	15349629	3	4	43	1	0	0	0	0	1	0	0	0	11884	768	27	1	1050	1	PIGA	23	15349629	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	15054488	15349629	139920931	569	36322											
MAGEB16	139604	broad.mit.edu	37	chrX	35821242	35821242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttcccatctcagtatgCggaagctctgaaagaggaag	10	9	3	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chrX:35821242C>T	uc010ngt.1	+	2	1208	c.929C>T	c.(928-930)GCG>GTG	p.A310V		NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	310	MAGE.									lung(3)|ovary(2)|breast(1)|skin(1)	7						TCTCAGTATGCGGAAGCTCTG	0.498													T	35821242	C	T	35821242	3	4	43	1	0	0	0	0	1	0	0	0	9174	768	27	1	931	1	MAGEB16	23	35821242	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	20471613	35821242	119449318	570	36323											
CASK	8573	broad.mit.edu	37	chrX	41379720	41379720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggggctgtgcacacgaGctcaacagcttcctccagat	11	13	1	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chrX:41379720G>A	uc004dfl.3	-	27	2765	c.2719C>T	c.(2719-2721)CTC>TTC	p.L907F	CASK_uc004dfj.3_Missense_Mutation_p.L452F|CASK_uc004dfk.3_Missense_Mutation_p.L727F|CASK_uc004dfm.3_Missense_Mutation_p.L884F|CASK_uc004dfn.3_Missense_Mutation_p.L883F	NM_003688	NP_003679	O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein	912					cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			ovary(3)|lung(2)|stomach(1)	6						GTGCACACGAGCTCAACAGCT	0.473													A	41379720	G	A	41379720	3	1	43	1	0	0	0	0	1	0	0	0	2665	971	34	2	50	2	CASK	23	41379720	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	5558478	41379720	113890840	571	36324											
SUV39H1	6839	broad.mit.edu	37	chrX	48564698	48564698	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcggcggggccagatctacGaccgtcagggcgccacctac	14	15	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chrX:48564698G>T	uc004dkn.2	+	4	916	c.871G>T	c.(871-873)GAC>TAC	p.D291Y	SUV39H1_uc011mmf.1_Missense_Mutation_p.D302Y|SUV39H1_uc011mmg.1_RNA	NM_003173	NP_003164	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1	291	Mediates interaction with MECOM (By similarity).|SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding				0						CCAGATCTACGACCGTCAGGG	0.587													T	48564698	G	T	48564698	3	4	43	1	0	0	0	0	1	0	0	0	15409	1058	37	5	885	5	SUV39H1	23	48564698	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	7184978	48564698	106705862	572	36325											
WNK3	65267	broad.mit.edu	37	chrX	54276024	54276024	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggattattttctatagtgagCaatgtgtcccgtgatatttc	9	6	1	2			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chrX:54276024C>A	uc004dtd.1	-	17	3196	c.2757G>T	c.(2755-2757)TTG>TTT	p.L919F	WNK3_uc004dtc.1_Missense_Mutation_p.L919F	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	919					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						CTATAGTGAGCAATGTGTCCC	0.398													A	54276024	C	A	54276024	3	1	43	1	0	0	0	0	1	0	0	0	17376	709	25	5	2677	5	WNK3	23	54276024	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	5711326	54276024	100994536	573	36326											
UBQLN2	29978	broad.mit.edu	37	chrX	56591820	56591820	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccccataggccctatagTcccttttacccccataggcc	7	17	0	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chrX:56591820T>C	uc004dus.2	+	1	1749	c.1514T>C	c.(1513-1515)GTC>GCC	p.V505A	UBQLN2_uc011moq.1_Intron	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	505	5.|12 X 3 AA tandem repeats of P-X-X.					cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2						GGCCCTATAGTCCCTTTTACC	0.662													C	56591820	T	C	56591820	3	2	43	1	0	0	0	0	1	0	0	0	16894	1667	58	3	1516	3	UBQLN2	23	56591820	Missense_Mutation	SNP	T	TCGA-BR-6802-01A-11D-1882-08	2315796	56591820	98678740	574	36327											
SPIN3	169981	broad.mit.edu	37	chrX	57020676	57020676	+	Frame_Shift_Del	DEL	T	T	-													ttgatgaagtacacagagggTtttgcttctacctgatgaat							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chrX:57020675_57020675GT>G	uc022bxv.1	-	0	706	c.706_706AC>C	c.(706-708)cccfs	p.P236fs	SPIN3_uc004duu.4_Intron|SPIN3_uc004duw.4_Intron|SPIN3_uc004duv.4_Intron|SPIN3_uc010nkj.2_Frame_Shift_Del_p.P236fs|SPIN3_uc004dux.1_Frame_Shift_Del_p.P236fs	NM_001010862	NP_001010862	Q5JUX0	SPIN3_HUMAN	Homo sapiens spindlin family, member 3 (SPIN3), transcript variant 1, mRNA.	236					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						TACACAGAGGGTTTTGCTTCT	0.403													-	57020676	T	-	57020676	7	5	43	1	0	1	0	1	0	0	0	0	15054	1722	60	0	75	0	SPIN3	23	57020676	Frame_Shift_Del	DEL	T	TCGA-BR-6802-01A-11D-1882-08	428856	57020676	98249884	575	36328											
RGAG4	340526	broad.mit.edu	37	chrX	71351350	71351350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgcgcagggccacattcGccatgcggaggctgttgaga	14	12	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chrX:71351350G>A	uc010nlh.1	-	1	402	c.41C>T	c.(40-42)GCG>GTG	p.A14V	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank|NHSL2_uc010nli.2_5'Flank	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	14										ovary(2)|skin(1)	3	Renal(35;0.156)					GGCCACATTCGCCATGCGGAG	0.612													A	71351350	G	A	71351350	3	1	43	1	0	0	0	0	1	0	0	0	13275	1087	38	1	1672	1	RGAG4	23	71351350	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	14330674	71351350	83919210	576	36329											
ERCC6L	54821	broad.mit.edu	37	chrX	71427426	71427426	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcagccaaaggtgagcgCgtctccattagcaactcctt	9	13	2	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chrX:71427426C>T	uc004eaq.1	-	2	1288	c.1191G>A	c.(1189-1191)ACG>ACA	p.T397T	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Silent_p.T274T	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	397					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)					AAGGTGAGCGCGTCTCCATTA	0.403													T	71427426	C	T	71427426	2	4	43	1	0	0	0	0	0	0	0	1	5218	755	27	1		1	ERCC6L	23	71427426	Silent	SNP	C	TCGA-BR-6802-01A-11D-1882-08	76076	71427426	83843134	577	36330											
CDX4	1046	broad.mit.edu	37	chrX	72674374	72674374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaccacaccatctgctgttCgtggatttcaacctattgag	7	12	3	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chrX:72674374C>T	uc011mqk.1	+	3	808	c.808C>T	c.(808-810)CGT>TGT	p.R270C		NM_005193	NP_005184	O14627	CDX4_HUMAN	caudal type homeobox 4	270						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(35;0.156)					ATCTGCTGTTCGTGGATTTCA	0.433													T	72674374	C	T	72674374	3	4	43	1	0	0	0	0	1	0	0	0	3184	884	31	1	818	1	CDX4	23	72674374	Missense_Mutation	SNP	C	TCGA-BR-6802-01A-11D-1882-08	1246948	72674374	82596186	578	36331											
SATL1	340562	broad.mit.edu	37	chrX	84363384	84363384	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgcctggttgttgcacGcctggttgccacatgcctgg	13	12	0	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chrX:84363384G>A	uc011mqx.1	-	1	591	c.591C>T	c.(589-591)GGC>GGT	p.G197G	SATL1_uc004een.2_Silent_p.G197G	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	10	Gln-rich.						N-acetyltransferase activity			breast(2)	2						GTTGTTGCACGCCTGGTTGCC	0.572													A	84363384	G	A	84363384	2	1	43	1	0	0	0	0	0	0	0	1	13855	1074	38	1		1	SATL1	23	84363384	Silent	SNP	G	TCGA-BR-6802-01A-11D-1882-08	11689010	84363384	70907176	579	36332											
TRMT2B	79979	broad.mit.edu	37	chrX	100274338	100274338	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcttcctttgactttagcAgccctggcaaaatcttctct	5	13	3	1			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chrX:100274338A>G	uc004egq.2	-	11	1522	c.1223T>C	c.(1222-1224)CTG>CCG	p.L408P	TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Missense_Mutation_p.L408P|TRMT2B_uc004egs.2_Missense_Mutation_p.L408P|TRMT2B_uc004egt.2_Missense_Mutation_p.L408P|TRMT2B_uc004egu.2_Missense_Mutation_p.L289P|TRMT2B_uc004egv.2_Missense_Mutation_p.L363P	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN	TRM2 tRNA methyltransferase 2 homolog B	408							tRNA (uracil-5-)-methyltransferase activity			ovary(1)	1						TGACTTTAGCAGCCCTGGCAA	0.483													G	100274338	A	G	100274338	3	3	43	1	0	0	0	0	1	0	0	0	16563	188	7	3	303	3	TRMT2B	23	100274338	Missense_Mutation	SNP	A	TCGA-BR-6802-01A-11D-1882-08	15910954	100274338	54996222	580	36333											
TCEAL6	158931	broad.mit.edu	37	chrX	101396155	101396155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcacctggctctccctcaGcctttcgctttccctcgcat	5	19	3	0			TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chrX:101396155G>T	uc004eiq.2	-	3	310	c.149C>A	c.(148-150)GCT>GAT	p.A50D		NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	50	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						ctctccctcagcctttcgctt	0.214													T	101396155	G	T	101396155	3	4	43	1	0	0	0	0	1	0	0	0	15672	971	34	5	406	5	TCEAL6	23	101396155	Missense_Mutation	SNP	G	TCGA-BR-6802-01A-11D-1882-08	1121817	101396155	53874405	581	36334											
BCORL1	63035	broad.mit.edu	37	chrX	129190011	129190011	+	Frame_Shift_Del	DEL	C	C	-													tggaggcttggacgacagatCccccccaggctcctctgaga							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chrX:129190010_129190010TC>T	uc022cdu.1	+	11	5079	c.5035_5035TC>T	c.(5035-5037)tccfs	p.S1679fs	BCORL1_uc004evc.2_Frame_Shift_Del_p.S515fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1679					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGACGACAGATCCCCCCCAGG	0.607													-	129190011	C	-	129190011	7	5	43	1	0	1	0	1	0	0	0	0	1387	855	30	0	5308	0	BCORL1	23	129190011	Frame_Shift_Del	DEL	C	TCGA-BR-6802-01A-11D-1882-08	27793856	129190011	26080549	582	36335											
GPR112	139378	broad.mit.edu	37	chrX	135488065	135488065	+	Frame_Shift_Del	DEL	T	T	-													gcctcacctgggggtttgcaTtttttgcttggggacccatg							TCGA-BR-6802-01A-11D-1882-08	TCGA-BR-6802-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3725a6f-6ed6-4b8d-8d69-091058167abd	1f579d9f-6205-4095-a016-35ac9bd25f07	g.chrX:135488064_135488064AT>A	uc004ezu.1	+	22	9159	c.8868_8868AT>A	c.(8866-8868)gcafs	p.A2956fs	GPR112_uc010nsb.1_Frame_Shift_Del_p.A2751fs	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2956					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGGGGTTTGCATTTTTTGCTT	0.448													-	135488065	T	-	135488065	7	5	43	1	0	1	0	1	0	0	0	0	6629	1493	52	0	8947	0	GPR112	23	135488065	Frame_Shift_Del	DEL	T	TCGA-BR-6802-01A-11D-1882-08	6298054	135488065	19782495	583	36336											
NRXN1	9378	broad.mit.edu	37	chr2	50765683	50765683	+	Frame_Shift_Del	DEL	C	C	-													ccagctttattttctggcagCccccccaggtacaactcatc							TCGA-BR-6803-01A-11D-1882-08	TCGA-BR-6803-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2275270e-2d72-4999-9b99-b5c2269ac152	a320b394-175a-41dd-bf3c-e86f7ecdc735	g.chr2:50765682_50765682GC>G	uc021vhh.1	-	8	2773	c.1852_1852GC>C	c.(1852-1854)ctgfs	p.L618fs	NRXN1_uc002rxb.4_Frame_Shift_Del_p.L290fs|NRXN1_uc021vhg.1_Frame_Shift_Del_p.L658fs|NRXN1_uc021vhi.1_Frame_Shift_Del_p.L654fs|NRXN1_uc021vhj.1_Frame_Shift_Del_p.L614fs|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	618	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTTTCTGGCAGCCCCCCCAGG	0.522													-	50765683	C	-	50765683	7	5	44	1	0	1	0	1	0	0	0	0	10665	726	26	0	2991	0	NRXN1	2	50765683	Frame_Shift_Del	DEL	C	TCGA-BR-6803-01A-11D-1882-08		50765683	192433690	1	36337											
PSD4	23550	broad.mit.edu	37	chr2	113955401	113955401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtgggggtgcaccactcGctggccacccccgccacgca	12	20	0	0			TCGA-BR-6803-01A-11D-1882-08	TCGA-BR-6803-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2275270e-2d72-4999-9b99-b5c2269ac152	a320b394-175a-41dd-bf3c-e86f7ecdc735	g.chr2:113955401G>A	uc002tjc.2	+	14	2718	c.2535G>A	c.(2533-2535)TCG>TCA	p.S845S	PSD4_uc002tjd.2_Silent_p.S465S|PSD4_uc002tje.2_Silent_p.S815S|PSD4_uc002tjf.2_Silent_p.S466S|PSD4_uc002tjg.2_Silent_p.S11S|PSD4_uc010yxs.1_Silent_p.S75S|PSD4_uc002tjh.2_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	845	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						TGCACCACTCGCTGGCCACCC	0.647													A	113955401	G	A	113955401	2	1	44	1	0	0	0	0	0	0	0	1	12649	1074	38	1		1	PSD4	2	113955401	Silent	SNP	G	TCGA-BR-6803-01A-11D-1882-08	63189718	113955401	129243972	2	36338											
GPR155	151556	broad.mit.edu	37	chr2	175304637	175304637	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttgcttaccttctttctttGacaatgtttcggatacagag	7	8	2	2			TCGA-BR-6803-01A-11D-1882-08	TCGA-BR-6803-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2275270e-2d72-4999-9b99-b5c2269ac152	a320b394-175a-41dd-bf3c-e86f7ecdc735	g.chr2:175304637G>C	uc002uit.2	-	16	2692	c.2301C>G	c.(2299-2301)GTC>GTG	p.V767V	GPR155_uc002uiu.2_Silent_p.V767V|GPR155_uc002uiv.2_Silent_p.V767V|GPR155_uc010fqs.2_Silent_p.V739V	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155 isoform 9	767	DEP.				intracellular signal transduction|transmembrane transport	integral to membrane				ovary(1)	1						TTCTTTCTTTGACAATGTTTC	0.348													C	175304637	G	C	175304637	2	2	44	1	0	0	0	0	0	0	0	1	6660	1277	45	5		5	GPR155	2	175304637	Silent	SNP	G	TCGA-BR-6803-01A-11D-1882-08	61349236	175304637	67894736	3	36339											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773225	140773225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagtggcatacaaattccGgaaaattaatgaaaaacaaa	6	5	0	1	rs141295392	by1000genomes	TCGA-BR-6803-01A-11D-1882-08	TCGA-BR-6803-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2275270e-2d72-4999-9b99-b5c2269ac152	a320b394-175a-41dd-bf3c-e86f7ecdc735	g.chr5:140773225G>A	uc003lkd.1	+	1	1743	c.845G>A	c.(844-846)CGG>CAG	p.R282Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.R282Q	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	282	Cadherin 3.|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)			TACAAATTCCGGAAAATTAAT	0.408													A	140773225	G	A	140773225	3	1	44	1	0	0	0	0	1	0	0	0	11560	1116	39	1	847	1	PCDHGA8	5	140773225	Missense_Mutation	SNP	G	TCGA-BR-6803-01A-11D-1882-08		140773225	40142035	4	36340											
FAT2	2196	broad.mit.edu	37	chr5	150924600	150924600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagtgtcctgctgctcccGgtcaaacgccacacctcttg	9	15	2	1			TCGA-BR-6803-01A-11D-1882-08	TCGA-BR-6803-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2275270e-2d72-4999-9b99-b5c2269ac152	a320b394-175a-41dd-bf3c-e86f7ecdc735	g.chr5:150924600G>A	uc003lue.3	-	9	6101	c.6088C>T	c.(6088-6090)CGG>TGG	p.R2030W	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	2030	Extracellular (Potential).|Cadherin 17.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTGCTCCCGGTCAAACGCC	0.507													A	150924600	G	A	150924600	3	1	44	1	0	0	0	0	1	0	0	0	5690	1115	39	1	7021	1	FAT2	5	150924600	Missense_Mutation	SNP	G	TCGA-BR-6803-01A-11D-1882-08	10151375	150924600	29990660	5	36341											
AK3	50808	broad.mit.edu	37	chr9	4713048	4713048	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagcatatacatagggccaAatcttgttggtttctgttcc	8	8	2	0			TCGA-BR-6803-01A-11D-1882-08	TCGA-BR-6803-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2275270e-2d72-4999-9b99-b5c2269ac152	a320b394-175a-41dd-bf3c-e86f7ecdc735	g.chr9:4713048A>C	uc003ziq.1	-	5	752	c.612T>G	c.(610-612)ATT>ATG	p.I204M	AK3_uc003zip.1_RNA|AK3_uc011lma.1_Missense_Mutation_p.I164M|AK3_uc003zir.1_Missense_Mutation_p.I134M	NM_016282	NP_057366	Q9UIJ7	KAD3_HUMAN	adenylate kinase 3	204					blood coagulation	mitochondrial matrix	ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity			ovary(2)	2	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)		CATAGGGCCAAATCTTGTTGG	0.378													C	4713048	A	C	4713048	3	2	44	1	0	0	0	0	1	0	0	0	441	10	1	5	75	5	AK3	9	4713048	Missense_Mutation	SNP	A	TCGA-BR-6803-01A-11D-1882-08		4713048	136500383	6	36342											
SVIL	6840	broad.mit.edu	37	chr10	29759247	29759247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtccttccgacctccttcGtgtgggcctgggctttgcat	12	14	0	0			TCGA-BR-6803-01A-11D-1882-08	TCGA-BR-6803-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2275270e-2d72-4999-9b99-b5c2269ac152	a320b394-175a-41dd-bf3c-e86f7ecdc735	g.chr10:29759247G>A	uc001iut.1	-	32	6554	c.5801C>T	c.(5800-5802)ACG>ATG	p.T1934M	LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.T848M|SVIL_uc001iuu.1_Missense_Mutation_p.T1508M	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1934	Gelsolin-like 4.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				GACCTCCTTCGTGTGGGCCTG	0.597													A	29759247	G	A	29759247	3	1	44	1	0	0	0	0	1	0	0	0	15418	1145	40	1	871	1	SVIL	10	29759247	Missense_Mutation	SNP	G	TCGA-BR-6803-01A-11D-1882-08		29759247	105775500	7	36343											
DOCK1	1793	broad.mit.edu	37	chr10	128851029	128851029	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtacaaagccatgaaagcGctagaatccatcttcaagtt	7	10	2	2			TCGA-BR-6803-01A-11D-1882-08	TCGA-BR-6803-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2275270e-2d72-4999-9b99-b5c2269ac152	a320b394-175a-41dd-bf3c-e86f7ecdc735	g.chr10:128851029G>T	uc001ljt.2	+	22	2287	c.2223G>T	c.(2221-2223)GCG>GCT	p.A741A	DOCK1_uc010qun.1_Silent_p.A762A	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	741					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CCATGAAAGCGCTAGAATCCA	0.502													T	128851029	G	T	128851029	2	4	44	1	0	0	0	0	0	0	0	1	4684	1074	38	5		5	DOCK1	10	128851029	Silent	SNP	G	TCGA-BR-6803-01A-11D-1882-08	99091782	128851029	6683718	8	36344											
CHID1	66005	broad.mit.edu	37	chr11	902239	902239	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgacctcaaacatctcaCggccacgtctcttcagctgc	7	17	4	1			TCGA-BR-6803-01A-11D-1882-08	TCGA-BR-6803-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2275270e-2d72-4999-9b99-b5c2269ac152	a320b394-175a-41dd-bf3c-e86f7ecdc735	g.chr11:902239C>A	uc001lsl.2	-	4	514	c.353G>T	c.(352-354)CGT>CTT	p.R118L	CHID1_uc010qwu.1_Missense_Mutation_p.R148L|CHID1_uc010qwv.1_Missense_Mutation_p.R179L|CHID1_uc001lsn.2_Missense_Mutation_p.R143L|CHID1_uc001lsm.2_Missense_Mutation_p.R118L|CHID1_uc001lso.2_Missense_Mutation_p.R118L|CHID1_uc001lsp.2_Missense_Mutation_p.R118L|CHID1_uc010qww.1_Missense_Mutation_p.R118L	NM_023947	NP_076436	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1 isoform a	118					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		AAACATCTCACGGCCACGTCT	0.557													A	902239	C	A	902239	3	1	44	1	0	0	0	0	1	0	0	0	3345	536	19	5	868	5	CHID1	11	902239	Missense_Mutation	SNP	C	TCGA-BR-6803-01A-11D-1882-08		902239	134104277	9	36345											
MTUS2	23281	broad.mit.edu	37	chr13	29600602	29600602	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acgtcccccaaagtgcctgaCaagaacacttgccccagtgg	9	15	0	2			TCGA-BR-6803-01A-11D-1882-08	TCGA-BR-6803-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2275270e-2d72-4999-9b99-b5c2269ac152	a320b394-175a-41dd-bf3c-e86f7ecdc735	g.chr13:29600602C>G	uc001usl.3	+	1	1855	c.1797C>G	c.(1795-1797)GAC>GAG	p.D599E		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	589						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						AAGTGCCTGACAAGAACACTT	0.532													G	29600602	C	G	29600602	3	3	44	1	0	0	0	0	1	0	0	0	9966	477	17	5	1799	5	MTUS2	13	29600602	Missense_Mutation	SNP	C	TCGA-BR-6803-01A-11D-1882-08		29600602	85569276	10	36346											
TTLL5	23093	broad.mit.edu	37	chr14	76241900	76241900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggatggtattacccagtcGacgattggcacttctggaac	12	9	1	0			TCGA-BR-6803-01A-11D-1882-08	TCGA-BR-6803-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2275270e-2d72-4999-9b99-b5c2269ac152	a320b394-175a-41dd-bf3c-e86f7ecdc735	g.chr14:76241900G>A	uc001xrx.2	+	22	2415	c.2210G>A	c.(2209-2211)CGA>CAA	p.R737Q	TTLL5_uc010ask.1_Missense_Mutation_p.R751Q|TTLL5_uc001xrz.2_Missense_Mutation_p.R312Q|TTLL5_uc001xry.1_RNA	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	737					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTACCCAGTCGACGATTGGCA	0.448													A	76241900	G	A	76241900	3	1	44	1	0	0	0	0	1	0	0	0	16727	1058	37	1	2292	1	TTLL5	14	76241900	Missense_Mutation	SNP	G	TCGA-BR-6803-01A-11D-1882-08		76241900	31107640	11	36347											
TLN2	83660	broad.mit.edu	37	chr15	63084979	63084979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaatgcgcccgtgccgtcaCggaaaaggtaaggagcagcc	14	12	1	0	rs140861754	byFrequency	TCGA-BR-6803-01A-11D-1882-08	TCGA-BR-6803-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2275270e-2d72-4999-9b99-b5c2269ac152	a320b394-175a-41dd-bf3c-e86f7ecdc735	g.chr15:63084979C>T	uc002alb.3	+	43	5876	c.5876C>T	c.(5875-5877)ACG>ATG	p.T1959M	TLN2_uc002alc.3_Missense_Mutation_p.T352M	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1959					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						CGTGCCGTCACGGAAAAGGTA	0.567													T	63084979	C	T	63084979	3	4	44	1	0	0	0	0	1	0	0	0	15945	536	19	1	6046	1	TLN2	15	63084979	Missense_Mutation	SNP	C	TCGA-BR-6803-01A-11D-1882-08		63084979	39446413	12	36348											
CDH1	999	broad.mit.edu	37	chr16	68844172	68844172	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agattttgatcacggtaaccGatcagaatgacaacaagccc	8	10	2	4			TCGA-BR-6803-01A-11D-1882-08	TCGA-BR-6803-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2275270e-2d72-4999-9b99-b5c2269ac152	a320b394-175a-41dd-bf3c-e86f7ecdc735	g.chr16:68844172G>T	uc002ewg.1	+	6	884	c.760G>T	c.(760-762)GAT>TAT	p.D254Y	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.D254Y	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	254	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)|p.D254fs*9(1)|p.D254H(1)|p.D254Y(1)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CACGGTAACCGATCAGAATGA	0.468			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				T	68844172	G	T	68844172	3	4	44	1	0	0	0	0	1	0	0	0	3095	1058	37	5	782	5	CDH1	16	68844172	Missense_Mutation	SNP	G	TCGA-BR-6803-01A-11D-1882-08		68844172	21510581	13	36349											
TP53	7157	broad.mit.edu	37	chr17	7578542	7578542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcaaaacatcttgttgaGggcaggggagtactgtagga	15	5	1	1			TCGA-BR-6803-01A-11D-1882-08	TCGA-BR-6803-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2275270e-2d72-4999-9b99-b5c2269ac152	a320b394-175a-41dd-bf3c-e86f7ecdc735	g.chr17:7578542G>A	uc002gim.2	-	5	582	c.388C>T	c.(388-390)CTC>TTC	p.L130F	TP53_uc002gig.1_Missense_Mutation_p.L130F|TP53_uc002gih.2_Missense_Mutation_p.L130F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.L130F|TP53_uc010cni.1_Missense_Mutation_p.L130F|TP53_uc002gij.2_Missense_Mutation_p.L130F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.L37F|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.L91F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	130	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		L -> H (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L130V(11)|p.L130F(7)|p.L130R(7)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.L130L(4)|p.L130H(3)|p.Y126_N131delYSPALN(3)|p.L130fs*19(2)|p.L130fs*41(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.L130P(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.N131fs*27(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.L130del(1)|p.L130fs*40(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATCTTGTTGAGGGCAGGGGAG	0.552		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7578542	G	A	7578542	3	1	44	1	0	0	0	0	1	0	0	0	16378	1000	35	4	910	4	TP53	17	7578542	Missense_Mutation	SNP	G	TCGA-BR-6803-01A-11D-1882-08		7578542	73616668	14	36350											
SPAG5	10615	broad.mit.edu	37	chr17	26905534	26905534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgggtaaggtgggtcacctCctctctaaggctctgggaat	14	10	3	0			TCGA-BR-6803-01A-11D-1882-08	TCGA-BR-6803-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2275270e-2d72-4999-9b99-b5c2269ac152	a320b394-175a-41dd-bf3c-e86f7ecdc735	g.chr17:26905534C>T	uc002hbq.2	-	21	3303	c.3211G>A	c.(3211-3213)GAG>AAG	p.E1071K	ALDOC_uc002hbp.2_5'Flank|ALDOC_uc010cro.2_5'Flank	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	1071	Potential.				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			central_nervous_system(1)	1	Lung NSC(42;0.00431)					TGGGTCACCTCCTCTCTAAGG	0.532													T	26905534	C	T	26905534	3	4	44	1	0	0	0	0	1	0	0	0	14981	864	30	4	386	4	SPAG5	17	26905534	Missense_Mutation	SNP	C	TCGA-BR-6803-01A-11D-1882-08	19326992	26905534	54289676	15	36351											
SIRT6	51548	broad.mit.edu	37	chr19	4174643	4174643	+	Frame_Shift_Del	DEL	T	T	-													gaccgccttggccttcacccTtttggggggtctgtgggggg							TCGA-BR-6803-01A-11D-1882-08	TCGA-BR-6803-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2275270e-2d72-4999-9b99-b5c2269ac152	a320b394-175a-41dd-bf3c-e86f7ecdc735	g.chr19:4174643delT	uc002lzo.2	-	8	1099	c.1039delA	c.(1039-1041)AGGfs	p.R347fs	SIRT6_uc002lzn.2_3'UTR|SIRT6_uc002lzp.2_3'UTR|SIRT6_uc010xid.1_Frame_Shift_Del_p.R275fs|SIRT6_uc002lzq.2_Frame_Shift_Del_p.R320fs|SIRT6_uc002lzr.2_Frame_Shift_Del_p.R248fs	NM_016539	NP_057623	Q8N6T7	SIRT6_HUMAN	sirtuin 6	347					chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTTCACCCTTTTGGGGGGT	0.647													-	4174643	T	-	4174643	7	5	44	1	0	1	0	1	0	0	0	0	14342	1608	56	0	32	0	SIRT6	19	4174643	Frame_Shift_Del	DEL	T	TCGA-BR-6803-01A-11D-1882-08		4174643	54954340	16	36352											
CTSA	5476	broad.mit.edu	37	chr20	44521890	44521890	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcaatggactctcctcctAtgagcagaatgacaactccc	9	13	1	3			TCGA-BR-6803-01A-11D-1882-08	TCGA-BR-6803-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2275270e-2d72-4999-9b99-b5c2269ac152	a320b394-175a-41dd-bf3c-e86f7ecdc735	g.chr20:44521890A>G	uc002xqj.3	+	7	1106	c.632A>G	c.(631-633)TAT>TGT	p.Y211C	NEURL2_uc002xqg.1_5'Flank|CTSA_uc002xqh.2_Missense_Mutation_p.Y229C|CTSA_uc002xqi.2_RNA|CTSA_uc010zxi.1_Missense_Mutation_p.Y212C|CTSA_uc002xqk.3_Missense_Mutation_p.Y211C	NM_001127695	NP_001121167	P10619	PPGB_HUMAN	cathepsin A isoform b precursor	211					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CTCTCCTCCTATGAGCAGAAT	0.567													G	44521890	A	G	44521890	3	3	44	1	0	0	0	0	1	0	0	0	4029	449	16	3	712	3	CTSA	20	44521890	Missense_Mutation	SNP	A	TCGA-BR-6803-01A-11D-1882-08		44521890	18503630	17	36353											
NRIP1	8204	broad.mit.edu	37	chr21	16339654	16339654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttgatttgcattttgcGtttttaaagcgtgttctcga	9	7	1	1	rs150993445		TCGA-BR-6803-01A-11D-1882-08	TCGA-BR-6803-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2275270e-2d72-4999-9b99-b5c2269ac152	a320b394-175a-41dd-bf3c-e86f7ecdc735	g.chr21:16339654G>A	uc002yjx.2	-	4	1458	c.860C>T	c.(859-861)ACG>ATG	p.T287M		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	287	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGCATTTTGCGTTTTTAAAGC	0.458													A	16339654	G	A	16339654	3	1	44	1	0	0	0	0	1	0	0	0	10652	1145	40	1	2620	1	NRIP1	21	16339654	Missense_Mutation	SNP	G	TCGA-BR-6803-01A-11D-1882-08		16339654	31790241	18	36354											
C22orf33	339669	broad.mit.edu	37	chr22	37395899	37395899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcgaaacaagtttgaccGcatgttgtagccgaggtcat	10	10	1	1			TCGA-BR-6803-01A-11D-1882-08	TCGA-BR-6803-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2275270e-2d72-4999-9b99-b5c2269ac152	a320b394-175a-41dd-bf3c-e86f7ecdc735	g.chr22:37395899G>A	uc003aqf.2	-	4	762	c.616C>T	c.(616-618)CGG>TGG	p.R206W	C22orf33_uc003aqe.2_Missense_Mutation_p.R121W	NM_001163857	NP_001157329	O43247	EAN57_HUMAN	hypothetical protein LOC339669 isoform 1	206											0						AAGTTTGACCGCATGTTGTAG	0.567													A	37395899	G	A	37395899	3	1	44	1	0	0	0	0	1	0	0	0	2145	1086	38	1	238	1	C22orf33	22	37395899	Missense_Mutation	SNP	G	TCGA-BR-6803-01A-11D-1882-08		37395899	13908667	19	36355											
MAGEB1	4112	broad.mit.edu	37	chrX	30269600	30269600	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggcgtcgcactactgccacGacttttagagcgcgttctag	11	12	1	1			TCGA-BR-6803-01A-11D-1882-08	TCGA-BR-6803-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2275270e-2d72-4999-9b99-b5c2269ac152	a320b394-175a-41dd-bf3c-e86f7ecdc735	g.chrX:30269600G>T	uc004dcc.2	+	4	1310	c.990G>T	c.(988-990)ACG>ACT	p.T330T	MAGEB1_uc004dcd.2_Silent_p.T330T|MAGEB1_uc004dce.2_Silent_p.T330T	NM_002363	NP_002354	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	330											0						CTACTGCCACGACTTTTAGAG	0.527													T	30269600	G	T	30269600	2	4	44	1	0	0	0	0	0	0	0	1	9172	1045	37	5		5	MAGEB1	23	30269600	Silent	SNP	G	TCGA-BR-6803-01A-11D-1882-08		30269600	125000960	20	36356											
SAMD11	148398	broad.mit.edu	37	chr1	879452	879452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggggccacgcccttgcCggtcaaacttcacccaagca	12	15	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:879452C>T	uc001abw.1	+	14	2045	c.1965C>T	c.(1963-1965)GCC>GCT	p.A655A	SAMD11_uc001abx.1_Silent_p.A518A	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	655						nucleus					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACGCCCTTGCCGGTCAAACTT	0.672													T	879452	C	T	879452	2	4	45	1	0	0	0	0	0	0	0	1	13816	639	23	1		1	SAMD11	1	879452	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08		879452	248371169	1	36357											
AGRN	375790	broad.mit.edu	37	chr1	980635	980635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatatcaccgcagcccggggCgtgggcctggctggctgccc	15	15	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:980635C>T	uc001ack.1	+	13	2399	c.2349C>T	c.(2347-2349)GGC>GGT	p.G783G		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	783					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CAGCCCGGGGCGTGGGCCTGG	0.711													T	980635	C	T	980635	2	4	45	1	0	0	0	0	0	0	0	1	397	755	27	1		1	AGRN	1	980635	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	101183	980635	248269986	2	36358											
ATAD3C	219293	broad.mit.edu	37	chr1	1397981	1397981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggaactccttccccaggCgtctgaagctggcccagttt	11	13	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:1397981C>T	uc001aft.2	+	11	1977	c.982C>T	c.(982-984)CGT>TGT	p.R328C		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	328							ATP binding|nucleoside-triphosphatase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTTCCCCAGGCGTCTGAAGCT	0.637													T	1397981	C	T	1397981	3	4	45	1	0	0	0	0	1	0	0	0	1075	782	27	1	1024	1	ATAD3C	1	1397981	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	417346	1397981	247852640	3	36359											
ACTRT2	140625	broad.mit.edu	37	chr1	2939156	2939156	+	Frame_Shift_Del	DEL	G	G	-													tttggggagattgtgctgtcGgggggcactaccctgttcca							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:2939155_2939155CG>C	uc001ajz.3	+	0	1110	c.905_905CG>C	c.(904-906)tcgfs	p.S302fs		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	302						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		ATTGTGCTGTCGGGGGGCACT	0.612													-	2939156	G	-	2939156	7	5	45	1	0	1	0	1	0	0	0	0	219	1103	39	0	908	0	ACTRT2	1	2939156	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	1541175	2939156	246311465	4	36360											
PRDM16	63976	broad.mit.edu	37	chr1	3322154	3322154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgcgggaagaccttcgcCacgtcctccggcctcaagca	11	16	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:3322154C>T	uc001akf.2	+	8	1208	c.1128C>T	c.(1126-1128)GCC>GCT	p.A376A	PRDM16_uc001akc.2_Silent_p.A376A|PRDM16_uc001akd.2_Silent_p.A376A|PRDM16_uc001ake.2_Silent_p.A376A|PRDM16_uc009vlh.2_Silent_p.A77A	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	376	C2H2-type 5.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGACCTTCGCCACGTCCTCCG	0.677			T	EVI1	MDS|AML								T	3322154	C	T	3322154	2	4	45	1	0	0	0	0	0	0	0	1	12457	581	21	4		4	PRDM16	1	3322154	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	382998	3322154	245928467	5	36361											
GPR153	387509	broad.mit.edu	37	chr1	6314182	6314182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatacccatgactgtgtgcaCcgcctgcttcttggcattgc	10	13	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:6314182C>T	uc001amp.1	-	3	642	c.382G>A	c.(382-384)GTG>ATG	p.V128M		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	128	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		ACTGTGTGCACCGCCTGCTTC	0.632													T	6314182	C	T	6314182	3	4	45	1	0	0	0	0	1	0	0	0	6659	507	18	4	1463	4	GPR153	1	6314182	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2992028	6314182	242936439	6	36362											
RERE	473	broad.mit.edu	37	chr1	8419854	8419854	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcctcgcgctcccgctcTcgctcccgctcccgctcctt	7	23	2	0	rs149634880	byFrequency	TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:8419854T>C	uc001ape.2	-	20	4398	c.3588A>G	c.(3586-3588)CGA>CGG	p.R1196R	RERE_uc001apf.2_Silent_p.R1196R|RERE_uc001apd.2_Silent_p.R642R	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1196	Arg/Glu-rich (mixed charge).|Potential.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		gctcccgctctcgctcccgct	0.537													C	8419854	T	C	8419854	2	2	45	1	0	0	0	0	0	0	0	1	13231	1538	54	3		3	RERE	1	8419854	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	2105672	8419854	240830767	7	36363											
TMEM201	199953	broad.mit.edu	37	chr1	9655959	9655959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccacaggatgaagccaaCgcacacgatggtcaactgct	11	12	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:9655959C>T	uc001apz.2	+	2	137	c.125C>T	c.(124-126)ACG>ATG	p.T42M	TMEM201_uc001apy.2_Missense_Mutation_p.T42M	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	transmembrane protein 201 isoform 1	42						integral to membrane|nuclear inner membrane					0	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		ATGAAGCCAACGCACACGATG	0.627													T	9655959	C	T	9655959	3	4	45	1	0	0	0	0	1	0	0	0	16123	536	19	1	131	1	TMEM201	1	9655959	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1236105	9655959	239594662	8	36364											
NMNAT1	64802	broad.mit.edu	37	chr1	10042385	10042386	+	Frame_Shift_Ins	INS	-	-	G													aaaggtcaagctgctgtgtgINSgggcagatttattggagtcc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:10042384_10042385T>TG	uc001aqp.3	+	4	609_610	c.465_466T>TG	c.(463-468)tgtgggfs	p.C155fs		NM_022787	NP_073624	Q9HAN9	NMNA1_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 1 (NMNAT1), mRNA.	155					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		AGCTGCTGTGTGGGGCAGATTT	0.485													G	10042386	-	G	10042385	7	5	45	1	0	1	1	0	0	0	0	0	10498	1348	47	0	480	0	NMNAT1	1	10042385	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	386426	10042385	239208236	9	36365											
MTOR	2475	broad.mit.edu	37	chr1	11184566	11184566	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tctgaatacctgaggtttttCcgaagagatgttgggtcatt	11	6	2	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:11184566C>G	uc001asd.2	-	47	6772	c.6651G>C	c.(6649-6651)CGG>CGC	p.R2217R	MTOR_uc001asc.2_Silent_p.R422R	NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	2217	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						TGAGGTTTTTCCGAAGAGATG	0.433													G	11184566	C	G	11184566	2	3	45	1	0	0	0	0	0	0	0	1	9954	842	30	5		5	MTOR	1	11184566	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1142181	11184566	238066055	10	36366											
MFN2	9927	broad.mit.edu	37	chr1	12052744	12052744	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgaaagtggctttttttgGccggtaagtccttgaggcac	12	8	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:12052744G>T	uc001atn.3	+	4	761	c.308G>T	c.(307-309)GGC>GTC	p.G103V	MFN2_uc009vni.2_Missense_Mutation_p.G103V	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	103	Cytoplasmic (Potential).|GTP (Probable).				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GCTTTTTTTGGCCGGTAAGTC	0.532													T	12052744	G	T	12052744	3	4	45	1	0	0	0	0	1	0	0	0	9524	1203	42	5	314	5	MFN2	1	12052744	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	868178	12052744	237197877	11	36367											
VPS13D	55187	broad.mit.edu	37	chr1	12328778	12328778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttagctgcagatccagatgGccccgtttttgagatgctgt	11	9	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:12328778G>A	uc001atv.2	+	16	1958	c.1817G>A	c.(1816-1818)GGC>GAC	p.G606D	VPS13D_uc001atw.2_Missense_Mutation_p.G606D	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	606					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GATCCAGATGGCCCCGTTTTT	0.463													A	12328778	G	A	12328778	3	1	45	1	0	0	0	0	1	0	0	0	17189	1203	42	2	1875	2	VPS13D	1	12328778	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	276034	12328778	236921843	12	36368											
KAZ	23254	broad.mit.edu	37	chr1	15370596	15370596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaccacgccacggcactgCgctcccagctggacctcaag	10	18	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:15370596C>T	uc001avm.3	+	4	948	c.667C>T	c.(667-669)CGC>TGC	p.R223C	KAZ_uc009vog.1_Missense_Mutation_p.R223C|KAZ_uc010obj.1_Missense_Mutation_p.R223C|KAZ_uc001avo.2_Missense_Mutation_p.R217C|KAZ_uc001avp.2_Missense_Mutation_p.R129C|KAZ_uc001avq.2_Missense_Mutation_p.R129C|KAZ_uc001avr.2_Missense_Mutation_p.R126C	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	223	Interaction with PPL.|Potential.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0						CACGGCACTGCGCTCCCAGCT	0.657													T	15370596	C	T	15370596	3	4	45	1	0	0	0	0	1	0	0	0	7988	768	27	1	893	1	KAZ	1	15370596	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3041818	15370596	233880025	13	36369											
FBLIM1	54751	broad.mit.edu	37	chr1	16091512	16091512	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaagagggtggcatcgTctgtctttatcaccctggca	12	10	3	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:16091512T>C	uc001axd.1	+	4	477	c.34T>C	c.(34-36)TCT>CCT	p.S12P	FBLIM1_uc001axe.1_Missense_Mutation_p.S12P|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Missense_Mutation_p.S12P|FBLIM1_uc001axh.1_Missense_Mutation_p.S12P|FBLIM1_uc001axi.1_Missense_Mutation_p.S12P	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	filamin-binding LIM protein-1 isoform a	12	Filamin-binding.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			skin(1)	1		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GGTGGCATCGTCTGTCTTTAT	0.647													C	16091512	T	C	16091512	3	2	45	1	0	0	0	0	1	0	0	0	5697	1667	58	3	36	3	FBLIM1	1	16091512	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	720916	16091512	233159109	14	36370											
SPEN	23013	broad.mit.edu	37	chr1	16265849	16265849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgagagtcacctgtcccGcctggcccctgacctccttg	9	18	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:16265849G>A	uc001axk.1	+	15	11126	c.10922G>A	c.(10921-10923)CGC>CAC	p.R3641H	SPEN_uc010obp.1_Missense_Mutation_p.R3600H	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3641	SPOC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CACCTGTCCCGCCTGGCCCCT	0.567													A	16265849	G	A	16265849	3	1	45	1	0	0	0	0	1	0	0	0	15037	1087	38	1	10980	1	SPEN	1	16265849	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	174337	16265849	232984772	15	36371											
ARHGEF10L	55160	broad.mit.edu	37	chr1	18014124	18014124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacacacatggtgaaggcGggcagcggcgtctggatggc	18	9	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:18014124G>A	uc001ban.2	+	27	3225	c.3066G>A	c.(3064-3066)GCG>GCA	p.A1022A	ARHGEF10L_uc009vpe.1_Silent_p.A983A|ARHGEF10L_uc001bao.2_Silent_p.A983A|ARHGEF10L_uc001bap.2_Silent_p.A978A|ARHGEF10L_uc001baq.2_Silent_p.A783A|ARHGEF10L_uc010ocs.1_Silent_p.A795A|ARHGEF10L_uc001bar.2_Silent_p.A725A|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	1022					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TGGTGAAGGCGGGCAGCGGCG	0.617													A	18014124	G	A	18014124	2	1	45	1	0	0	0	0	0	0	0	1	895	1103	39	1		1	ARHGEF10L	1	18014124	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1748275	18014124	231236497	16	36372											
PAX7	5081	broad.mit.edu	37	chr1	19062291	19062291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcctgcccacctcccagGcctactgcccacccacctac	5	23	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:19062291G>A	uc001bay.2	+	8	1919	c.1321G>A	c.(1321-1323)GCC>ACC	p.A441T	PAX7_uc001baz.2_Missense_Mutation_p.A439T|PAX7_uc010oct.1_Missense_Mutation_p.A441T	NM_002584	NP_002575	P23759	PAX7_HUMAN	paired box 7 isoform 1	441					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CACCTCCCAGGCCTACTGCCC	0.687			T	FOXO1A	alveolar rhabdomyosarcoma								A	19062291	G	A	19062291	3	1	45	1	0	0	0	0	1	0	0	0	11484	1203	42	2	1351	2	PAX7	1	19062291	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1048167	19062291	230188330	17	36373											
UBR4	23352	broad.mit.edu	37	chr1	19404515	19404515	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagggcccaaaagagaagGgaagaacggtaagcggaata	15	6	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:19404515G>A	uc001bbi.2	-	104	15283	c.15279C>T	c.(15277-15279)TCC>TCT	p.S5093S	UBR4_uc001bbe.1_5'Flank|UBR4_uc001bbf.2_5'UTR|UBR4_uc010ocv.1_Silent_p.S616S|UBR4_uc009vph.2_Silent_p.S727S|UBR4_uc010ocw.1_Silent_p.S757S|UBR4_uc001bbg.2_Silent_p.S804S|UBR4_uc001bbh.2_Silent_p.S802S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	5093					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAAAGAGAAGGGAAGAACGGT	0.468													A	19404515	G	A	19404515	2	1	45	1	0	0	0	0	0	0	0	1	16901	1219	43	4		4	UBR4	1	19404515	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	342224	19404515	229846106	18	36374											
MUL1	79594	broad.mit.edu	37	chr1	20827877	20827878	+	Frame_Shift_Ins	INS	-	-	T													caggtcaaagggcactgtgtINStggtcctctgatgaatgatc					rs147902092		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:20827876_20827877G>GT	uc001bdi.4	-	3	522_523	c.365_366C>AC	c.(364-366)aacfs	p.N122fs		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	Homo sapiens mitochondrial E3 ubiquitin protein ligase 1 (MUL1), nuclear gene encoding mitochondrial protein, mRNA.	122					activation of JUN kinase activity|activation of caspase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		AGGGCACTGTGTTGGTCCTCTG	0.51													T	20827878	-	T	20827877	7	5	45	1	0	1	1	0	0	0	0	0	9984	1725	60	0	697	0	MUL1	1	20827877	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	1423362	20827877	228422744	19	36375											
KIF17	57576	broad.mit.edu	37	chr1	20998683	20998683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgatctccacctctgctgCccgaagctgaaagcaaagga	9	12	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:20998683C>T	uc001bdr.3	-	12	2588	c.2470G>A	c.(2470-2472)GCA>ACA	p.A824T	KIF17_uc001bdp.3_Missense_Mutation_p.A102T|KIF17_uc001bdq.3_Missense_Mutation_p.A102T|KIF17_uc009vpx.2_Missense_Mutation_p.A194T|KIF17_uc001bds.3_Missense_Mutation_p.A824T	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	824	Potential.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		ACCTCTGCTGCCCGAAGCTGA	0.557													T	20998683	C	T	20998683	3	4	45	1	0	0	0	0	1	0	0	0	8279	739	26	2	635	2	KIF17	1	20998683	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	170806	20998683	228251938	20	36376											
RAP1GAP	5909	broad.mit.edu	37	chr1	21929337	21929337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgttctcgatgccaatggCgctgctgcggcgggagccga	15	11	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:21929337C>T	uc001bex.2	-	19	1756	c.1498G>A	c.(1498-1500)GCC>ACC	p.A500T	RAP1GAP_uc001bev.2_Missense_Mutation_p.A585T|RAP1GAP_uc001bew.2_Missense_Mutation_p.A564T|RAP1GAP_uc001bey.2_Missense_Mutation_p.A526T	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform c	500					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		ATGCCAATGGCGCTGCTGCGG	0.642													T	21929337	C	T	21929337	3	4	45	1	0	0	0	0	1	0	0	0	13037	768	27	1	517	1	RAP1GAP	1	21929337	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	930654	21929337	227321284	21	36377											
GRHL3	57822	broad.mit.edu	37	chr1	24663276	24663276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggggtgccgcccacacagCgctggcagccagacagcacc	13	16	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:24663276C>T	uc001biy.2	+	4	632	c.586C>T	c.(586-588)CGC>TGC	p.R196C	GRHL3_uc001bix.2_Missense_Mutation_p.R191C|GRHL3_uc001biz.2_Missense_Mutation_p.R98C	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	191					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GCCCACACAGCGCTGGCAGCC	0.537													T	24663276	C	T	24663276	3	4	45	1	0	0	0	0	1	0	0	0	6765	768	27	1	621	1	GRHL3	1	24663276	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2733939	24663276	224587345	22	36378											
SRRM1	10250	broad.mit.edu	37	chr1	24995891	24995891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagccgctctacccgggagGcccgatcaccacaaccaaac	8	18	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:24995891G>A	uc001bjm.2	+	14	2241	c.2017G>A	c.(2017-2019)GCC>ACC	p.A673T	SRRM1_uc010oel.1_Missense_Mutation_p.A685T|SRRM1_uc009vrh.1_Missense_Mutation_p.A646T|SRRM1_uc009vri.1_Missense_Mutation_p.A602T	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	673	Pro-rich.|Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TACCCGGGAGGCCCGATCACC	0.572													A	24995891	G	A	24995891	3	1	45	1	0	0	0	0	1	0	0	0	15167	1203	42	2	2071	2	SRRM1	1	24995891	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	332615	24995891	224254730	23	36379											
ARID1A	8289	broad.mit.edu	37	chr1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-													tgctgcactggcggattggtGggggggacaccactgagcat							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACA	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27105931	G	-	27105931	7	5	45	1	0	1	0	1	0	0	0	0	913	1348	47	0	5620	0	ARID1A	1	27105931	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	2110040	27105931	222144690	24	36380											
SLC9A1	6548	broad.mit.edu	37	chr1	27436018	27436018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctgcacgcagactcacGccatgatgcctgacaggtgg	12	14	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:27436018G>A	uc001bnm.2	-	3	1690	c.1064C>T	c.(1063-1065)GCG>GTG	p.A355V	SLC9A1_uc010ofk.1_Missense_Mutation_p.A16V|SLC9A1_uc001bnn.2_Missense_Mutation_p.A355V	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	355	Helical; Name=M9; (Potential).				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GCAGACTCACGCCATGATGCC	0.637													A	27436018	G	A	27436018	3	1	45	1	0	0	0	0	1	0	0	0	14709	1101	38	1	1423	1	SLC9A1	1	27436018	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	330087	27436018	221814603	25	36381											
WDTC1	23038	broad.mit.edu	37	chr1	27614178	27614178	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tatatagttcctgcctcacgCtggggaccgcatcttgatca	9	12	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:27614178C>G	uc009vst.2	+	6	840	c.305C>G	c.(304-306)GCT>GGT	p.A102G	WDTC1_uc001bno.2_Missense_Mutation_p.A102G|WDTC1_uc001bnp.1_RNA	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	102	WD 2.						protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTGCCTCACGCTGGGGACCGC	0.542													G	27614178	C	G	27614178	3	3	45	1	0	0	0	0	1	0	0	0	17339	797	28	5	323	5	WDTC1	1	27614178	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	178160	27614178	221636443	26	36382											
RNF19B	127544	broad.mit.edu	37	chr1	33402626	33402626	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtcactgcggatgctttcAggctgggccaggctgatgtc	15	10	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:33402626A>G	uc010oho.1	-	9	1980	c.1980T>C	c.(1978-1980)CCT>CCC	p.P660P	RNF19B_uc001bwm.3_3'UTR|RNF19B_uc010ohp.1_Silent_p.P659P	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B isoform a	660						integral to membrane	ligase activity|protein binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGATGCTTTCAGGCTGGGCCA	0.582													G	33402626	A	G	33402626	2	3	45	1	0	0	0	0	0	0	0	1	13471	175	7	3		3	RNF19B	1	33402626	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	5788448	33402626	215847995	27	36383											
CSMD2	114784	broad.mit.edu	37	chr1	34076667	34076667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccagcttgaatcctggcCgattctgggagtggtcgctg	13	11	1	1	rs142970674	byFrequency	TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:34076667C>T	uc001bxn.1	-	41	6226	c.6197G>A	c.(6196-6198)CGG>CAG	p.R2066Q	CSMD2_uc001bxm.1_Missense_Mutation_p.R2106Q|CSMD2_uc001bxo.1_Missense_Mutation_p.R979Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2066	CUB 12.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAATCCTGGCCGATTCTGGGA	0.572													T	34076667	C	T	34076667	3	4	45	1	0	0	0	0	1	0	0	0	3945	652	23	1	4382	1	CSMD2	1	34076667	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	674041	34076667	215173954	28	36384											
TFAP2E	339488	broad.mit.edu	37	chr1	36040586	36040586	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaatgagcctcctagaccagTccgtgatcaagaaaggtaag	11	9	1	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:36040586T>A	uc010ohy.1	+	3	755	c.547T>A	c.(547-549)TCC>ACC	p.S183T	PSMB2_uc001bzd.1_Intron	NM_178548	NP_848643	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating	183						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCTAGACCAGTCCGTGATCAA	0.592													A	36040586	T	A	36040586	3	1	45	1	0	0	0	0	1	0	0	0	15788	1667	58	5	557	5	TFAP2E	1	36040586	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1963919	36040586	213210035	29	36385											
OSCP1	127700	broad.mit.edu	37	chr1	36915870	36915870	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctctcacctttgcgggccTtgtctcccgggatgttctgg	12	14	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:36915870T>G	uc001cap.2	-	1	183	c.101A>C	c.(100-102)AAG>ACG	p.K34T	OSCP1_uc001caq.2_Missense_Mutation_p.K34T|OSCP1_uc001car.2_Missense_Mutation_p.K34T	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN	oxidored-nitro domain-containing protein isoform	34					transport	basal plasma membrane				ovary(2)|central_nervous_system(1)|pancreas(1)	4						TTTGCGGGCCTTGTCTCCCGG	0.662											OREG0013369	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	36915870	T	G	36915870	3	3	45	1	0	0	0	0	1	0	0	0	11286	1609	56	5	1238	5	OSCP1	1	36915870	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	875284	36915870	212334751	30	36386											
RHBDL2	54933	broad.mit.edu	37	chr1	39358878	39358878	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tctgaaaattccaaaggcagGaatcatttcttgaaaattct	6	7	4	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:39358878G>T	uc001ccu.1	-	6	856	c.628C>A	c.(628-630)CCT>ACT	p.P210T	RHBDL2_uc010oin.1_Missense_Mutation_p.P210T|RHBDL2_uc010oio.1_Missense_Mutation_p.P290T	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	rhomboid protease 2	210					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity				0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CCAAAGGCAGGAATCATTTCT	0.274													T	39358878	G	T	39358878	3	4	45	1	0	0	0	0	1	0	0	0	13322	1174	41	5	295	5	RHBDL2	1	39358878	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2443008	39358878	209891743	31	36387											
MACF1	23499	broad.mit.edu	37	chr1	39785384	39785385	+	Frame_Shift_Ins	INS	-	-	A													gacaaaactggatcaatgtcINSaaaaattttcccagcagtac					rs146466275		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:39785384_39785385insA	uc010ois.1	+	32	4214_4215	c.4009_4010insA	c.(4009-4011)CAAfs	p.Q1337fs	MACF1_uc001cda.1_Frame_Shift_Ins_p.Q1245fs|MACF1_uc001cdc.1_Frame_Shift_Ins_p.Q424fs|MACF1_uc009vvq.1_Frame_Shift_Ins_p.Q394fs|MACF1_uc001cdb.1_Frame_Shift_Ins_p.Q424fs	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1337					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGATCAATGTCAAAAATTTTCC	0.366													A	39785385	-	A	39785384	7	5	45	1	0	1	1	0	0	0	0	0	9144	827	29	0	4127	0	MACF1	1	39785384	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	426506	39785384	209465237	32	36388	118	2									
MACF1	23499	broad.mit.edu	37	chr1	39785385	39785386	+	Frame_Shift_Ins	INS	-	-	A													acaaaactggatcaatgtcaINSaaaattttcccagcagtact					rs146466275		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:39785384_39785385C>CA	uc021olt.1	+	29	4061_4062	c.4009_4010C>CA	c.(4009-4011)caafs	p.Q1337fs	MACF1_uc021ols.1_Frame_Shift_Ins_p.Q1337fs|MACF1_uc001cdc.2_Frame_Shift_Ins_p.Q1337fs|MACF1_uc001cda.1_Frame_Shift_Ins_p.Q1245fs|MACF1_uc009vvq.1_Frame_Shift_Ins_p.Q394fs|MACF1_uc001cdb.1_Frame_Shift_Ins_p.Q424fs	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1337					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGATCAATGTCAAAAATTTTCC	0.366													A	39785386	-	A	39785385	7	5	45	1	0	1	1	0	0	0	0	0	9144	130	5	0	4128	0	MACF1	1	39785385	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	1	39785385	209465236	33	36389	118	2									
MACF1	23499	broad.mit.edu	37	chr1	39823348	39823348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcataagggaggcagcaGccccgagacccttccctccc	10	17	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:39823348G>A	uc010oiu.1	+	9	7177	c.7046G>A	c.(7045-7047)AGC>AAC	p.S2349N	MACF1_uc010ois.1_Missense_Mutation_p.S1847N|MACF1_uc001cda.1_Missense_Mutation_p.S1755N|MACF1_uc001cdc.1_Missense_Mutation_p.S934N|MACF1_uc001cdb.1_Missense_Mutation_p.S934N	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3914	Spectrin 1.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAGGCAGCAGCCCCGAGACC	0.493													A	39823348	G	A	39823348	3	1	45	1	0	0	0	0	1	0	0	0	9144	971	34	2	11849	2	MACF1	1	39823348	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	37963	39823348	209427273	34	36390											
MACF1	23499	broad.mit.edu	37	chr1	39919406	39919406	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagaaagtagaagaaaagCgagtggacgttaactcagca	12	5	1	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:39919406C>T	uc010oiu.1	+	53	16230	c.16099C>T	c.(16099-16101)CGA>TGA	p.R5367*	MACF1_uc010ois.1_Nonsense_Mutation_p.R4865*	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAGAAAAGCGAGTGGACGT	0.428													T	39919406	C	T	39919406	4	4	45	1	0	0	0	0	0	1	0	0	9144	760	27	1	21078	1	MACF1	1	39919406	Nonsense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	96058	39919406	209331215	35	36391											
DEM1	64789	broad.mit.edu	37	chr1	40980785	40980785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcactatacagccaaggGggaactggagctggcggaac	15	10	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:40980785G>A	uc001cfp.2	+	3	774	c.569G>A	c.(568-570)GGG>GAG	p.G190E	DEM1_uc001cfq.2_Missense_Mutation_p.G190E|DEM1_uc001cfr.2_Missense_Mutation_p.G190E|DEM1_uc001cfs.2_Missense_Mutation_p.G190E	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	defects in morphology 1 homolog	190							DNA binding|exonuclease activity				0						ACAGCCAAGGGGGAACTGGAG	0.507													A	40980785	G	A	40980785	3	1	45	1	0	0	0	0	1	0	0	0	4425	1232	43	4	571	4	DEM1	1	40980785	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1061379	40980785	208269836	36	36392											
HIVEP3	59269	broad.mit.edu	37	chr1	41979370	41979370	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaactggtgctcctccacaGcctctgaaccctctcgtcct	6	17	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:41979370G>T	uc001cgz.3	-	8	6735	c.5522C>A	c.(5521-5523)GCT>GAT	p.A1841D	HIVEP3_uc001cha.3_Missense_Mutation_p.A1841D|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1841	Acidic 3.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCCTCCACAGCCTCTGAACC	0.587													T	41979370	G	T	41979370	3	4	45	1	0	0	0	0	1	0	0	0	7188	971	34	5	1706	5	HIVEP3	1	41979370	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	998585	41979370	207271251	37	36393											
ST3GAL3	6487	broad.mit.edu	37	chr1	44303981	44303981	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgacggccatcttcccCcggtaagtgctcctgtttcc	9	14	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:44303981C>T	uc001ckc.2	+	5	477	c.300C>T	c.(298-300)CCC>CCT	p.P100P	ST3GAL3_uc009vwu.1_RNA|ST3GAL3_uc010okj.1_RNA|ST3GAL3_uc001cjz.2_Silent_p.P115P|ST3GAL3_uc001cka.2_Silent_p.P84P|ST3GAL3_uc001ckb.2_Silent_p.P169P|ST3GAL3_uc001ckd.2_Silent_p.P154P|ST3GAL3_uc001cke.2_Silent_p.P84P|ST3GAL3_uc001ckf.2_Silent_p.P138P|ST3GAL3_uc001ckg.2_Silent_p.P100P|ST3GAL3_uc001ckh.2_Silent_p.P115P|ST3GAL3_uc001cki.2_Silent_p.P100P|ST3GAL3_uc009vwv.2_Silent_p.P100P|ST3GAL3_uc001ckj.2_RNA|ST3GAL3_uc009vww.2_RNA|ST3GAL3_uc001ckk.2_Intron|ST3GAL3_uc009vwy.2_Silent_p.P6P|ST3GAL3_uc009vwx.2_RNA|ST3GAL3_uc001ckm.2_Silent_p.P99P|ST3GAL3_uc001ckl.2_Silent_p.P100P|ST3GAL3_uc009vwz.2_5'UTR|ST3GAL3_uc001ckn.2_RNA|ST3GAL3_uc001ckp.2_Silent_p.P99P|ST3GAL3_uc001cko.2_Silent_p.P84P|ST3GAL3_uc009vxa.2_Intron|ST3GAL3_uc001ckq.2_Silent_p.P84P|ST3GAL3_uc001ckr.2_Intron|ST3GAL3_uc009vxb.2_Silent_p.P84P	NM_006279	NP_006270	Q11203	SIAT6_HUMAN	sialyltransferase 6 isoform j	100	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			ovary(3)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCATCTTCCCCCGGTAAGTGC	0.547													T	44303981	C	T	44303981	2	4	45	1	0	0	0	0	0	0	0	1	15215	610	22	4		4	ST3GAL3	1	44303981	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2324611	44303981	204946640	38	36394											
POMGNT1	55624	broad.mit.edu	37	chr1	46661685	46661685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacccctagaaactcaccGtggcctggttgaggacaatg	10	14	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:46661685G>A	uc001cpe.2	-	5	583	c.419C>T	c.(418-420)ACG>ATG	p.T140M	POMGNT1_uc010olx.1_Missense_Mutation_p.T118M|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_Translation_Start_Site|POMGNT1_uc001cpg.2_Missense_Mutation_p.T140M|POMGNT1_uc001cpf.2_Translation_Start_Site|POMGNT1_uc001cpj.2_Missense_Mutation_p.T124M	NM_017739	NP_060209	Q8WZA1	PMGT1_HUMAN	O-linked mannose	140	Lumenal (Potential).				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GAAACTCACCGTGGCCTGGTT	0.592													A	46661685	G	A	46661685	3	1	45	1	0	0	0	0	1	0	0	0	12243	1159	40	1	1635	1	POMGNT1	1	46661685	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2357704	46661685	202588936	39	36395											
CYP4A11	1579	broad.mit.edu	37	chr1	47401267	47401267	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtcatcaaggagacgTgctgaaagacctccagaggg	14	10	2	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:47401267T>C	uc001cqp.3	-	5	614	c.563A>G	c.(562-564)CAC>CGC	p.H188R	CYP4A11_uc001cqq.2_Missense_Mutation_p.H188R|CYP4A11_uc010omm.1_RNA	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A,	188					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			ovary(2)|skin(2)	4					NADH(DB00157)	CAAGGAGACGTGCTGAAAGAC	0.562													C	47401267	T	C	47401267	3	2	45	1	0	0	0	0	1	0	0	0	4183	1696	59	3	1028	3	CYP4A11	1	47401267	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	739582	47401267	201849354	40	36396											
CYP4X1	260293	broad.mit.edu	37	chr1	47512186	47512186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaatgtgcatcaaggagaCgtgccgattgattcctgcag	11	10	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:47512186C>T	uc001cqt.2	+	9	1371	c.1121C>T	c.(1120-1122)ACG>ATG	p.T374M	CYP4X1_uc001cqr.2_Missense_Mutation_p.T373M|CYP4X1_uc001cqs.2_Missense_Mutation_p.T309M	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X,	374						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2						ATCAAGGAGACGTGCCGATTG	0.493													T	47512186	C	T	47512186	3	4	45	1	0	0	0	0	1	0	0	0	4193	536	19	1	1155	1	CYP4X1	1	47512186	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	110919	47512186	201738435	41	36397											
ECHDC2	55268	broad.mit.edu	37	chr1	53364883	53364883	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctactttgcccagccgcAcggcaatgggggcctaggga	15	12	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:53364883A>G	uc001cup.3	-	8	962	c.716T>C	c.(715-717)GTG>GCG	p.V239A	ECHDC2_uc001cun.2_Missense_Mutation_p.V162A|ECHDC2_uc001cuo.3_Missense_Mutation_p.V208A|ECHDC2_uc010onk.1_Missense_Mutation_p.V193A	NM_018281	NP_060751	Q86YB7	ECHD2_HUMAN	enoyl Coenzyme A hydratase domain containing 2	239					fatty acid metabolic process	mitochondrion	lyase activity			central_nervous_system(1)	1						GCCCAGCCGCACGGCAATGGG	0.547													G	53364883	A	G	53364883	3	3	45	1	0	0	0	0	1	0	0	0	4894	159	6	3	174	3	ECHDC2	1	53364883	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	5852697	53364883	195885738	42	36398											
ECHDC2	55268	broad.mit.edu	37	chr1	53377251	53377251	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctacctgcacagaacacGcccttcactccacttctgaa	4	17	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:53377251G>A	uc001cup.3	-	3	510	c.264C>T	c.(262-264)GGC>GGT	p.G88G	ECHDC2_uc001cun.2_Silent_p.G42G|ECHDC2_uc001cuo.3_Silent_p.G88G|ECHDC2_uc010onk.1_Silent_p.G42G|ECHDC2_uc010onl.1_Silent_p.G42G|ECHDC2_uc010onm.1_Silent_p.G42G|ECHDC2_uc010onn.1_Silent_p.G42G	NM_018281	NP_060751	Q86YB7	ECHD2_HUMAN	enoyl Coenzyme A hydratase domain containing 2	88					fatty acid metabolic process	mitochondrion	lyase activity			central_nervous_system(1)	1						CACAGAACACGCCCTTCACTC	0.592													A	53377251	G	A	53377251	2	1	45	1	0	0	0	0	0	0	0	1	4894	1074	38	1		1	ECHDC2	1	53377251	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	12368	53377251	195873370	43	36399											
C1orf177	163747	broad.mit.edu	37	chr1	55277501	55277501	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctggaaattatggggagaAgggtaacccatacaccaagc	11	10	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:55277501A>C	uc001cyb.3	+	5	569	c.515A>C	c.(514-516)AAG>ACG	p.K172T	C1orf177_uc001cya.3_Missense_Mutation_p.K172T	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	hypothetical protein LOC163747 isoform 2	172											0						TATGGGGAGAAGGGTAACCCA	0.582													C	55277501	A	C	55277501	3	2	45	1	0	0	0	0	1	0	0	0	2017	72	3	5	533	5	C1orf177	1	55277501	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	1900250	55277501	193973120	44	36400											
PCSK9	255738	broad.mit.edu	37	chr1	55512210	55512210	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggccttgaagttgccCcatgtcgactacatcgagga	11	12	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:55512210C>A	uc001cyf.1	+	3	705	c.414C>A	c.(412-414)CCC>CCA	p.P138P	PCSK9_uc010ool.1_RNA|PCSK9_uc010oom.1_Intron	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	138					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			ovary(2)|central_nervous_system(1)|skin(1)	4						TGAAGTTGCCCCATGTCGACT	0.582													A	55512210	C	A	55512210	2	1	45	1	0	0	0	0	0	0	0	1	11606	610	22	5		5	PCSK9	1	55512210	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	234709	55512210	193738411	45	36401											
PRKAA2	5563	broad.mit.edu	37	chr1	57158050	57158050	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttgaagagatggaagccaGgcggctctttcagcagattc	14	8	2	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:57158050G>T	uc001cyk.3	+	4	421	c.350G>T	c.(349-351)AGG>ATG	p.R117M		NM_006252	NP_006243	P54646	AAPK2_HUMAN	AMP-activated protein kinase alpha 2 catalytic	117	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(4)|ovary(1)|stomach(1)	6						ATGGAAGCCAGGCGGCTCTTT	0.353													T	57158050	G	T	57158050	3	4	45	1	0	0	0	0	1	0	0	0	12494	1000	35	5	364	5	PRKAA2	1	57158050	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1645840	57158050	192092571	46	36402											
DAB1	1600	broad.mit.edu	37	chr1	57489218	57489218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttacctgagggtacagcaGcagtgccgaaaggtacagaa	13	9	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:57489218G>A	uc001cys.1	-	13	1555	c.881C>T	c.(880-882)GCT>GTT	p.A294V	DAB1_uc001cyt.1_Missense_Mutation_p.A292V|DAB1_uc001cyq.1_Missense_Mutation_p.A292V|DAB1_uc001cyr.1_Missense_Mutation_p.A208V|DAB1_uc009vzw.1_Missense_Mutation_p.A276V|DAB1_uc009vzx.1_Missense_Mutation_p.A294V	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	327					cell differentiation|nervous system development					skin(2)|ovary(1)	3						GGGTACAGCAGCAGTGCCGAA	0.507													A	57489218	G	A	57489218	3	1	45	1	0	0	0	0	1	0	0	0	4217	971	34	2	802	2	DAB1	1	57489218	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	331168	57489218	191761403	47	36403											
MYSM1	114803	broad.mit.edu	37	chr1	59156023	59156023	+	Frame_Shift_Del	DEL	T	T	-													tgattttacctcttcatgtaTtttttatcatcttccttttg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:59156022_59156022AT>A	uc009wab.2	-	3	309	c.286_286AT>T	c.(286-288)tacfs	p.Y96fs	MYSM1_uc001czc.3_Non-coding_Transcript|MYSM1_uc001czd.3_Frame_Shift_Del_p.Y96fs	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.	96					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CTCTTCATGTATTTTTTATCA	0.284													-	59156023	T	-	59156023	7	5	45	1	0	1	0	1	0	0	0	0	10101	1490	52	0	2269	0	MYSM1	1	59156023	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	1666805	59156023	190094598	48	36404											
PDE4B	5142	broad.mit.edu	37	chr1	66833502	66833502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatctcaccaagaagcagcGtcagacactcaggaagatgg	11	10	3	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:66833502G>A	uc001dcn.2	+	14	1699	c.1508G>A	c.(1507-1509)CGT>CAT	p.R503H	PDE4B_uc009war.2_Missense_Mutation_p.R411H|PDE4B_uc001dco.2_Missense_Mutation_p.R503H|PDE4B_uc001dcp.2_Missense_Mutation_p.R488H|PDE4B_uc001dcq.2_Missense_Mutation_p.R331H|PDE4B_uc009was.2_Missense_Mutation_p.R270H	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	503					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	AAGAAGCAGCGTCAGACACTC	0.408													A	66833502	G	A	66833502	3	1	45	1	0	0	0	0	1	0	0	0	11640	1145	40	1	1916	1	PDE4B	1	66833502	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	7677479	66833502	182417119	49	36405											
WDR78	79819	broad.mit.edu	37	chr1	67306239	67306239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagtcgttccaagttggcGggtattgttgattcttctgc	11	8	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:67306239G>A	uc001dcx.2	-	9	1463	c.1407C>T	c.(1405-1407)CCC>CCT	p.P469P	WDR78_uc001dcy.2_Silent_p.P469P|WDR78_uc009waw.2_Silent_p.P215P|WDR78_uc009wax.2_RNA	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	469										ovary(2)	2						CCAAGTTGGCGGGTATTGTTG	0.403													A	67306239	G	A	67306239	2	1	45	1	0	0	0	0	0	0	0	1	17325	1103	39	1		1	WDR78	1	67306239	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	472737	67306239	181944382	50	36406											
FPGT	8790	broad.mit.edu	37	chr1	74670742	74670742	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagaaatgaggcagagaatAtttcatcttcttaaaggaac	9	5	3	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:74670742A>G	uc001dgb.1	+	4	1048	c.1011A>G	c.(1009-1011)ATA>ATG	p.I337M	TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	NM_003838	NP_003829	O14772	FPGT_HUMAN	fucose-1-phosphate guanyltransferase	337					fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding			skin(1)	1						GGCAGAGAATATTTCATCTTC	0.358													G	74670742	A	G	74670742	3	3	45	1	0	0	0	0	1	0	0	0	6037	439	16	3	1025	3	FPGT	1	74670742	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	7364503	74670742	174579879	51	36407											
TNNI3K	51086	broad.mit.edu	37	chr1	74835236	74835236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcaatacatatcaggggGttctctgttctccctccttc	6	14	4	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:74835236G>A	uc001dgf.1	+	16	1685	c.1634G>A	c.(1633-1635)GGT>GAT	p.G545D	TNNI3K_uc001dgc.1_Missense_Mutation_p.G646D|TNNI3K_uc001dgd.2_Missense_Mutation_p.G646D|TNNI3K_uc001dge.1_Missense_Mutation_p.G646D	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	545	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						ATATCAGGGGGTTCTCTGTTC	0.448													A	74835236	G	A	74835236	3	1	45	1	0	0	0	0	1	0	0	0	16326	1261	44	4	2051	4	TNNI3K	1	74835236	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	164494	74835236	174415385	52	36408											
TTLL7	79739	broad.mit.edu	37	chr1	84383310	84383310	+	Frame_Shift_Del	DEL	T	T	-													tggtcctcgagtcttggtagTttttcccatcaacttttcat							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:84383309_84383309GT>G	uc001djc.3	-	13	1961	c.1565_1565AC>C	c.(1564-1566)actfs	p.T522fs	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Non-coding_Transcript|TTLL7_uc001djg.3_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	522					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	p.T522fs*19(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		AGTCTTGGTAGTTTTTCCCAT	0.343													-	84383310	T	-	84383310	7	5	45	1	0	1	0	1	0	0	0	0	16729	1725	60	0	1131	0	TTLL7	1	84383310	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	9548074	84383310	164867311	53	36409											
DNASE2B	58511	broad.mit.edu	37	chr1	84864322	84864322	+	Frame_Shift_Del	DEL	G	G	-													cttggcctctttggggtgctGggggcagcaacaatttcatg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:84864321_84864321TG>T	uc001djt.1	+	0	107	c.74_74TG>T	c.(73-75)ctgfs	p.L25fs	UOX_uc009wcg.3_5'Flank	NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN	Homo sapiens deoxyribonuclease II beta (DNASE2B), transcript variant 1, mRNA.	25					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TTTGGGGTGCTGGGGGCAGCA	0.458													-	84864322	G	-	84864322	7	5	45	1	0	1	0	1	0	0	0	0	4665	1335	47	0	77	0	DNASE2B	1	84864322	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	481012	84864322	164386299	54	36410											
SPATA1	64173	broad.mit.edu	37	chr1	84981989	84981989	+	Frame_Shift_Del	DEL	A	A	-													ctacttaaatgaagaaagatAaaaaaagaaacaaaattcca							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:84981989delA	uc001djz.1	+	2	212	c.13delA	c.(13-15)AAAfs	p.K5fs	SPATA1_uc001djx.2_Frame_Shift_Del_p.K5fs|SPATA1_uc001djy.1_RNA	NM_001081472	NP_001074941			spermatogenesis associated 1											central_nervous_system(1)	1				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		GAAGAAAGATAAAAAAAGAAA	0.294													-	84981989	A	-	84981989	7	5	45	1	0	1	0	1	0	0	0	0	14997	363	13	0	15	0	SPATA1	1	84981989	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	117667	84981989	164268632	55	36411											
EVI5	7813	broad.mit.edu	37	chr1	93169000	93169000	+	Frame_Shift_Del	DEL	A	A	-													ccaaggctatctttttccttAaaaaagttgtgttcagggta							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:93168999_93168999TA>T	uc010otf.2	-	3	659	c.649_649TA>A	c.(649-651)aagfs	p.K217fs	EVI5_uc001dox.3_Frame_Shift_Del_p.K217fs	NM_005665	NP_005656	O60447	EVI5_HUMAN	Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA.	217	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TCTTTTTCCTTAAAAAAGTTG	0.333													-	93169000	A	-	93169000	7	5	45	1	0	1	0	1	0	0	0	0	5289	359	13	0	1844	0	EVI5	1	93169000	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	8187011	93169000	156081621	56	36412											
ABCA4	24	broad.mit.edu	37	chr1	94564484	94564484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctgaagatgatgaagcGctccaggagggcctcgctgc	15	11	0	4	rs61750200		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:94564484G>A	uc001dqh.2	-	6	738	c.634C>T	c.(634-636)CGC>TGC	p.R212C	ABCA4_uc010otn.1_Missense_Mutation_p.R212C	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	212	Extracellular.		R -> C (in STGD1 and CORD3; common mutation in southern Europe; reduced ATP- binding capacity).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ATGATGAAGCGCTCCAGGAGG	0.602													A	94564484	G	A	94564484	3	1	45	1	0	0	0	0	1	0	0	0	34	1087	38	1	6367	1	ABCA4	1	94564484	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1395484	94564484	154686137	57	36413											
SLC35A3	23443	broad.mit.edu	37	chr1	100483314	100483314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggatttgcaacctctttatCgataatattatcaacattga	5	7	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:100483314C>T	uc001dsp.1	+	7	1027	c.830C>T	c.(829-831)TCG>TTG	p.S277L	SLC35A3_uc001dsq.1_Missense_Mutation_p.S277L|SLC35A3_uc009wdy.1_Intron|SLC35A3_uc001dsr.1_Missense_Mutation_p.S319L|SLC35A3_uc001dss.1_Missense_Mutation_p.S196L	NM_012243	NP_036375	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 member 3A	277	Helical; (Potential).				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		ACCTCTTTATCGATAATATTA	0.294													T	100483314	C	T	100483314	3	4	45	1	0	0	0	0	1	0	0	0	14572	893	31	1	852	1	SLC35A3	1	100483314	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	5918830	100483314	148767307	58	36414											
CELSR2	1952	broad.mit.edu	37	chr1	109811843	109811843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggtgaggctgtggccaGcgtcatcatctaccgcaccc	12	15	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:109811843G>A	uc001dxa.3	+	20	6804	c.6743G>A	c.(6742-6744)AGC>AAC	p.S2248N		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2248	Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCTGTGGCCAGCGTCATCATC	0.672													A	109811843	G	A	109811843	3	1	45	1	0	0	0	0	1	0	0	0	3222	971	34	2	6821	2	CELSR2	1	109811843	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	9328529	109811843	139438778	59	36415											
CYB561D1	284613	broad.mit.edu	37	chr1	110038475	110038475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggatccggctccactgggCagggcagaccctagccatcc	12	16	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:110038475C>T	uc010ovn.1	+	3	345	c.284C>T	c.(283-285)GCA>GTA	p.A95V	CYB561D1_uc010ovl.1_Missense_Mutation_p.A38V|CYB561D1_uc010ovm.1_Missense_Mutation_p.A37V|CYB561D1_uc001dxu.2_Nonsense_Mutation_p.Q130*|CYB561D1_uc001dxw.2_3'UTR|CYB561D1_uc010ovo.1_Missense_Mutation_p.A117V|CYB561D1_uc009wfd.2_Missense_Mutation_p.A44V|CYB561D1_uc010ovp.1_Missense_Mutation_p.A29V	NM_182580	NP_872386	Q8N8Q1	C56D1_HUMAN	cytochrome b-561 domain containing 1 isoform 2	95	Cytochrome b561.|Helical; (Potential).				electron transport chain|transport	integral to membrane	metal ion binding				0		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CTCCACTGGGCAGGGCAGACC	0.597													T	110038475	C	T	110038475	3	4	45	1	0	0	0	0	1	0	0	0	4120	711	25	2	479	2	CYB561D1	1	110038475	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	226632	110038475	139212146	60	36416											
KCNA3	3738	broad.mit.edu	37	chr1	111216271	111216271	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacgccttcagcgtttgcccGaggatctgcagccccttgga	12	14	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:111216271G>A	uc001dzv.1	-	1	1385	c.1161C>T	c.(1159-1161)CTC>CTT	p.L387L		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	387						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCGTTTGCCCGAGGATCTGCA	0.587													A	111216271	G	A	111216271	2	1	45	1	0	0	0	0	0	0	0	1	8004	1045	37	1		1	KCNA3	1	111216271	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1177796	111216271	138034350	61	36417											
WNT2B	7482	broad.mit.edu	37	chr1	113059876	113059876	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcggcgacgctatgatggggCtgtgcaggtgatggccaccc	17	11	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:113059876C>A	uc001ecb.2	+	4	1330	c.815C>A	c.(814-816)GCT>GAT	p.A272D	WNT2B_uc001eca.2_Missense_Mutation_p.A253D|WNT2B_uc009wgg.2_Missense_Mutation_p.A180D	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family,	272					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	p.A272S(1)		ovary(2)|breast(2)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATGATGGGGCTGTGCAGGTG	0.597													A	113059876	C	A	113059876	3	1	45	1	0	0	0	0	1	0	0	0	17384	797	28	5	962	5	WNT2B	1	113059876	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1843605	113059876	136190745	62	36418											
MOV10	4343	broad.mit.edu	37	chr1	113232051	113232051	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccagggctgagtatcttcAtgggaaacatggtgtggatg	14	8	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:113232051A>G	uc001eck.2	+	4	626	c.356A>G	c.(355-357)CAT>CGT	p.H119R	MOV10_uc001ecl.2_Missense_Mutation_p.H119R|MOV10_uc001ecn.2_Missense_Mutation_p.H119R|MOV10_uc001ecm.2_Missense_Mutation_p.H59R|MOV10_uc009wgj.1_Missense_Mutation_p.H59R	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	119					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GAGTATCTTCATGGGAAACAT	0.597													G	113232051	A	G	113232051	3	3	45	1	0	0	0	0	1	0	0	0	9718	217	8	3	366	3	MOV10	1	113232051	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	172175	113232051	136018570	63	36419											
SLC16A1	6566	broad.mit.edu	37	chr1	113471890	113471891	+	Frame_Shift_Ins	INS	-	-	G													ccagccccagcctccatctgINSggggggtgtatccaactgga							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:113471889_113471890T>TG	uc001ecx.3	-	1	873_874	c.41_42A>CA	c.(40-42)ccafs	p.P14fs	SLC16A1_uc001ecy.3_Frame_Shift_Ins_p.P14fs|SLC16A1_uc001ecz.3_Frame_Shift_Ins_p.P14fs	NM_001166496	NP_003042	P53985	MOT1_HUMAN	Homo sapiens solute carrier family 16, member 1 (monocarboxylic acid transporter 1) (SLC16A1), transcript variant 2, mRNA.	14					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	AGCCTCCATCTGGGGGGGTGTA	0.426													G	113471891	-	G	113471890	7	5	45	1	0	1	1	0	0	0	0	0	14402	1348	47	0	1477	0	SLC16A1	1	113471890	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	239839	113471890	135778731	64	36420											
DENND2C	163259	broad.mit.edu	37	chr1	115165628	115165628	+	Frame_Shift_Del	DEL	T	T	-													cttgggtgctttaaaagcacTtttagcgggtggtagcttcc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:115165627_115165627CT>C	uc001efd.1	-	5	1739	c.1037_1037AG>G	c.(1036-1038)agtfs	p.S346fs	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Frame_Shift_Del_p.S346fs	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	346										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTAAAAGCACTTTTAGCGGG	0.378													-	115165628	T	-	115165628	7	5	45	1	0	1	0	1	0	0	0	0	4430	1609	56	0	1639	0	DENND2C	1	115165628	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	1693738	115165628	134084993	65	36421											
HRNR	388697	broad.mit.edu	37	chr1	152188455	152188455	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagatccatgctgagtgtAaccagaggactgccatgagc	12	11	0	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:152188455A>G	uc001ezt.1	-	3	5726	c.5650T>C	c.(5650-5652)TAC>CAC	p.Y1884H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1884	20.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGAGTGTAACCAGAGGAC	0.552													G	152188455	A	G	152188455	3	3	45	1	0	0	0	0	1	0	0	0	7359	362	13	3	2906	3	HRNR	1	152188455	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	37022827	152188455	97062166	66	36422											
FLG	2312	broad.mit.edu	37	chr1	152283879	152283879	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcacgaatggtgtcctgAccctcttgggacgctgagtg	14	10	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:152283879A>G	uc001ezu.1	-	3	3519	c.3483T>C	c.(3481-3483)GGT>GGC	p.G1161G	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1161	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTGTCCTGACCCTCTTGGG	0.607									Ichthyosis				G	152283879	A	G	152283879	2	3	45	1	0	0	0	0	0	0	0	1	5922	262	10	3		3	FLG	1	152283879	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	95424	152283879	96966742	67	36423											
FLG2	388698	broad.mit.edu	37	chr1	152329960	152329960	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcggtgaccacgcctatgcTtctttgaccctgaagctttg	10	12	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:152329960T>C	uc001ezw.3	-	3	375	c.302A>G	c.(301-303)AAG>AGG	p.K101R	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	101							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGCCTATGCTTCTTTGACCC	0.428													C	152329960	T	C	152329960	3	2	45	1	0	0	0	0	1	0	0	0	5923	1609	56	3	6877	3	FLG2	1	152329960	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	46081	152329960	96920661	68	36424											
CRNN	49860	broad.mit.edu	37	chr1	152382638	152382638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgcttcctgtctggtggCtgctgtcctgctccacggtc	13	13	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:152382638C>T	uc001ezx.2	-	3	994	c.920G>A	c.(919-921)AGC>AAC	p.S307N		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	307	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTGGTGGCTGCTGTCCTG	0.622													T	152382638	C	T	152382638	3	4	45	1	0	0	0	0	1	0	0	0	3892	797	28	2	571	2	CRNN	1	152382638	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	52678	152382638	96867983	69	36425											
EFNA1	1942	broad.mit.edu	37	chr1	155103820	155103820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtgtccccaggttccGgaatgaggactacaccatac	11	11	0	1	rs144975407		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:155103820G>A	uc001fhh.2	+	2	203	c.98G>A	c.(97-99)CGG>CAG	p.R33Q	EFNA1_uc001fhi.2_Missense_Mutation_p.R33Q|EFNA1_uc009wpd.1_5'Flank	NM_004428	NP_004419	P20827	EFNA1_HUMAN	ephrin A1 isoform a precursor	33					angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding				0	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCAGGTTCCGGAATGAGGAC	0.522													A	155103820	G	A	155103820	3	1	45	1	0	0	0	0	1	0	0	0	4950	1116	39	1	104	1	EFNA1	1	155103820	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2721182	155103820	94146801	70	36426											
TRIM46	80128	broad.mit.edu	37	chr1	155152179	155152180	+	Frame_Shift_Ins	INS	-	-	C													cttcctgtgctggcggctgcINSccccccattcaccacctgcc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:155152178_155152179G>GC	uc001fhs.1	+	7	1439_1440	c.1356_1357G>GC	c.(1354-1359)ctgcccfs	p.L452fs	TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Frame_Shift_Ins_p.L452fs|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Frame_Shift_Ins_p.L326fs|TRIM46_uc001fhu.1_Frame_Shift_Ins_p.L429fs|TRIM46_uc009wpg.1_Frame_Shift_Ins_p.L439fs|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	452	Fibronectin type-III.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGCTGCCCCCCCATTC	0.644													C	155152180	-	C	155152179	7	5	45	1	0	1	1	0	0	0	0	0	16518	739	26	0	1387	0	TRIM46	1	155152179	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	48359	155152179	94098442	71	36427											
PKLR	5313	broad.mit.edu	37	chr1	155263247	155263247	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgcatgctgcatcttcacCgcttccacagggaagttgcc	9	15	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:155263247C>T	uc001fkb.3	-	8	1290	c.1251G>A	c.(1249-1251)GCG>GCA	p.A417A	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Silent_p.A386A	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	417					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GCATCTTCACCGCTTCCACAG	0.562													T	155263247	C	T	155263247	2	4	45	1	0	0	0	0	0	0	0	1	11976	639	23	1		1	PKLR	1	155263247	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	111068	155263247	93987374	72	36428											
MRPL24	79590	broad.mit.edu	37	chr1	156708445	156708445	+	Frame_Shift_Del	DEL	G	G	-													gctcatcccatagcggtaatGggggggcagagtgaccttgg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:156708444_156708444TG>T	uc001fpw.1	-	1	192	c.53_53CA>A	c.(52-54)catfs	p.H18fs	MRPL24_uc001fpx.1_Frame_Shift_Del_p.H18fs	NM_024540	NP_663781	Q96A35	RM24_HUMAN	Homo sapiens mitochondrial ribosomal protein L24 (MRPL24), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	18					translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAG	0.577													-	156708445	G	-	156708445	7	5	45	1	0	1	0	1	0	0	0	0	9790	1348	47	0	618	0	MRPL24	1	156708445	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	1445198	156708445	92542176	73	36429											
FCRL3	115352	broad.mit.edu	37	chr1	157667456	157667456	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctagccattaccttgaacTtggatatttaggggttttga	9	6	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:157667456T>G	uc001frb.2	-	5	844	c.552A>C	c.(550-552)CAA>CAC	p.Q184H	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.Q184H|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Missense_Mutation_p.Q184H	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	184	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					TACCTTGAACTTGGATATTTA	0.368													G	157667456	T	G	157667456	3	3	45	1	0	0	0	0	1	0	0	0	5796	1606	56	5	1696	5	FCRL3	1	157667456	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	959011	157667456	91583165	74	36430											
CD1D	912	broad.mit.edu	37	chr1	158151478	158151478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcagcttcaccagggacGtgaaggaattcgccaaaatg	12	9	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:158151478G>A	uc001frr.2	+	3	794	c.295G>A	c.(295-297)GTG>ATG	p.V99M	CD1D_uc009wsr.1_Missense_Mutation_p.V99M|CD1D_uc009wss.2_Missense_Mutation_p.V99M|CD1D_uc009wst.1_Translation_Start_Site	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	99	Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			ovary(1)	1	all_hematologic(112;0.0378)					CACCAGGGACGTGAAGGAATT	0.557													A	158151478	G	A	158151478	3	1	45	1	0	0	0	0	1	0	0	0	2977	1145	40	1	301	1	CD1D	1	158151478	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	484022	158151478	91099143	75	36431											
CCDC19	25790	broad.mit.edu	37	chr1	159857704	159857704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcaggaggttctgggccCgttccttggccacctcctcc	11	16	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:159857704C>T	uc001fui.2	-	5	533	c.515G>A	c.(514-516)CGG>CAG	p.R172Q	CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.R87Q|CCDC19_uc001ful.2_Missense_Mutation_p.R87Q|CCDC19_uc009wtc.1_Missense_Mutation_p.R172Q	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	172	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GTTCTGGGCCCGTTCCTTGGC	0.547													T	159857704	C	T	159857704	3	4	45	1	0	0	0	0	1	0	0	0	2795	652	23	1	1172	1	CCDC19	1	159857704	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1706226	159857704	89392917	76	36432											
IGSF9	57549	broad.mit.edu	37	chr1	159912846	159912846	+	Frame_Shift_Del	DEL	G	G	-													cagccactcgatgacatgcaGggggggccggccggccgggg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:159912845_159912845AG>A	uc001fur.2	-	2	353	c.155_155CT>T	c.(154-156)ctgfs	p.L52fs	IGSF9_uc001fuq.2_Frame_Shift_Del_p.L52fs	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	52	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GATGACATGCAgggggggccg	0.637													-	159912846	G	-	159912846	7	5	45	1	0	1	0	1	0	0	0	0	7605	991	35	0	3461	0	IGSF9	1	159912846	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	55142	159912846	89337775	77	36433											
ATP1A4	480	broad.mit.edu	37	chr1	160137172	160137172	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaaaccccaaggtggcagaGattccctttaattctaccaa	6	11	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:160137172G>T	uc001fve.3	+	10	1940	c.1461G>T	c.(1459-1461)GAG>GAT	p.E487D	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'UTR	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	487	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGTGGCAGAGATTCCCTTTA	0.512													T	160137172	G	T	160137172	3	4	45	1	0	0	0	0	1	0	0	0	1131	933	33	5	1499	5	ATP1A4	1	160137172	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	224326	160137172	89113449	78	36434											
SLAMF1	6504	broad.mit.edu	37	chr1	160607007	160607007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcaactgcaggcaaaagCgctgaactgaaacatttttc	8	11	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:160607007C>T	uc001fwl.3	-	2	735	c.389G>A	c.(388-390)CGC>CAC	p.R130H	SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA|SLAMF1_uc001fwm.2_Missense_Mutation_p.R130H	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family	130	Extracellular (Potential).				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CAGGCAAAAGCGCTGAACTGA	0.478													T	160607007	C	T	160607007	3	4	45	1	0	0	0	0	1	0	0	0	14367	768	27	1	642	1	SLAMF1	1	160607007	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	469835	160607007	88643614	79	36435											
USP21	27005	broad.mit.edu	37	chr1	161133376	161133376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccaacctaatgtggaaaCgttacctggagcgagaggac	13	9	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:161133376C>T	uc010pke.1	+	8	1458	c.1081C>T	c.(1081-1083)CGT>TGT	p.R361C	USP21_uc010pkc.1_Missense_Mutation_p.R361C|USP21_uc010pkd.1_Missense_Mutation_p.R361C|USP21_uc010pkf.1_Missense_Mutation_p.R361C|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyn.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc001fyl.2_5'Flank|PPOX_uc001fym.2_5'Flank|PPOX_uc001fyk.2_5'Flank|PPOX_uc001fyh.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc009wuc.1_5'Flank|PPOX_uc010pkh.1_5'Flank|PPOX_uc001fyi.2_5'Flank	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21	361					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)|prostate(1)|breast(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AATGTGGAAACGTTACCTGGA	0.532													T	161133376	C	T	161133376	3	4	45	1	0	0	0	0	1	0	0	0	17050	536	19	1	1103	1	USP21	1	161133376	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	526369	161133376	88117245	80	36436											
TOMM40L	84134	broad.mit.edu	37	chr1	161198233	161198233	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacagctgtacactgggtagCtacattgaatgtgggatcag	12	7	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:161198233C>A	uc001fzd.2	+	8	852	c.623C>A	c.(622-624)GCT>GAT	p.A208D	TOMM40L_uc010pkl.1_Missense_Mutation_p.A174D|TOMM40L_uc009wue.2_Missense_Mutation_p.A90D|TOMM40L_uc009wuf.1_RNA|TOMM40L_uc001fze.2_Missense_Mutation_p.A208D	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40	208					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(1)	1	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CACTGGGTAGCTACATTGAAT	0.498													A	161198233	C	A	161198233	3	1	45	1	0	0	0	0	1	0	0	0	16356	797	28	5	649	5	TOMM40L	1	161198233	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	64857	161198233	88052388	81	36437											
HSPA6	3310	broad.mit.edu	37	chr1	161495324	161495324	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagactccctgttcgagggCgtggacttctacacgtccat	10	12	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:161495324C>T	uc001gap.2	+	2	1536	c.876C>T	c.(874-876)GGC>GGT	p.G292G	HSPA6_uc001gaq.2_Silent_p.G292G	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	292					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGTTCGAGGGCGTGGACTTCT	0.657													T	161495324	C	T	161495324	2	4	45	1	0	0	0	0	0	0	0	1	7415	755	27	1		1	HSPA6	1	161495324	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	297091	161495324	87755297	82	36438											
DNM3	26052	broad.mit.edu	37	chr1	172002361	172002361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccggcttacagacatatcGctgaccgaatgggaacccca	9	14	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:172002361G>A	uc001gie.2	+	6	981	c.805G>A	c.(805-807)GCT>ACT	p.A269T	DNM3_uc001gid.3_Missense_Mutation_p.A269T|DNM3_uc009wwb.2_Missense_Mutation_p.A269T|DNM3_uc001gif.2_Missense_Mutation_p.A269T	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	269					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1						CAGACATATCGCTGACCGAAT	0.448													A	172002361	G	A	172002361	3	1	45	1	0	0	0	0	1	0	0	0	4673	1087	38	1	827	1	DNM3	1	172002361	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	10507037	172002361	77248260	83	36439											
C1orf105	92346	broad.mit.edu	37	chr1	172431363	172431363	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagatgatccaaaagcatccTttgagaattgtatgagttat	8	6	0	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:172431363T>G	uc001gik.2	+	5	515	c.319T>G	c.(319-321)TTT>GTT	p.F107V		NM_139240	NP_640333	O95561	CA105_HUMAN	hypothetical protein LOC92346	107										skin(1)	1						AAAAGCATCCTTTGAGAATTG	0.358													G	172431363	T	G	172431363	3	3	45	1	0	0	0	0	1	0	0	0	1979	1609	56	5	337	5	C1orf105	1	172431363	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	429002	172431363	76819258	84	36440											
NPHS2	7827	broad.mit.edu	37	chr1	179526176	179526176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtacctttgcatcttgggCgatgctcttcctctctagaa	8	11	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:179526176C>T	uc001gmq.3	-	5	809	c.724G>A	c.(724-726)GCC>ACC	p.A242T	NPHS2_uc009wxi.2_Intron	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	podocin	242	Cytoplasmic (Potential).				excretion	integral to plasma membrane	protein binding				0						GCATCTTGGGCGATGCTCTTC	0.368													T	179526176	C	T	179526176	3	4	45	1	0	0	0	0	1	0	0	0	10583	768	27	1	443	1	NPHS2	1	179526176	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	7094813	179526176	69724445	85	36441											
CACNA1E	777	broad.mit.edu	37	chr1	181701981	181701981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacaggcagagccaacggcGcagccggcatcgccgcgtca	14	16	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:181701981G>A	uc001gow.2	+	20	2924	c.2759G>A	c.(2758-2760)CGC>CAC	p.R920H	CACNA1E_uc009wxs.2_Missense_Mutation_p.R808H|CACNA1E_uc001gox.1_Missense_Mutation_p.R146H|CACNA1E_uc009wxt.2_Missense_Mutation_p.R146H	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	920	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						AGCCAACGGCGCAGCCGGCAT	0.652													A	181701981	G	A	181701981	3	1	45	1	0	0	0	0	1	0	0	0	2542	1087	38	1	2837	1	CACNA1E	1	181701981	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2175805	181701981	67548640	86	36442											
TPR	7175	broad.mit.edu	37	chr1	186302450	186302450	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagatagaaggctggacattAggactagtagaacgaacgga	14	5	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:186302450A>C	uc001grv.2	-	37	5556	c.5259T>G	c.(5257-5259)CCT>CCG	p.P1753P		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1753					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCTGGACATTAGGACTAGTAG	0.423			T	NTRK1	papillary thyroid								C	186302450	A	C	186302450	2	2	45	1	0	0	0	0	0	0	0	1	16413	407	15	5		5	TPR	1	186302450	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	4600469	186302450	62948171	87	36443											
F13B	2165	broad.mit.edu	37	chr1	197032103	197032103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacaattttttgtctatgCtcattggaaagtaaaagctt	7	5	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:197032103C>T	uc001gtt.1	-	2	193	c.149G>A	c.(148-150)AGC>AAC	p.S50N		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	50	Sushi 1.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TTTGTCTATGCTCATTGGAAA	0.378													T	197032103	C	T	197032103	3	4	45	1	0	0	0	0	1	0	0	0	5341	797	28	2	1880	2	F13B	1	197032103	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	10729653	197032103	52218518	88	36444											
DENND1B	163486	broad.mit.edu	37	chr1	197621390	197621390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaatttacaggagtatttGcctttggtactgggtggtta	11	5	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:197621390G>A	uc001guf.3	-	7	760	c.422C>T	c.(421-423)GCA>GTA	p.A141V	DENND1B_uc010ppe.1_Missense_Mutation_p.A141V|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Missense_Mutation_p.A131V|DENND1B_uc001gug.3_5'UTR	NM_144977	NP_659414	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B isoform 2	141	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0						AGGAGTATTTGCCTTTGGTAC	0.338													A	197621390	G	A	197621390	3	1	45	1	0	0	0	0	1	0	0	0	4427	1319	46	2	2014	2	DENND1B	1	197621390	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	589287	197621390	51629231	89	36445											
PTPRC	5788	broad.mit.edu	37	chr1	198711490	198711490	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagatgcctgatggttcaAgtagaggtatgttctaacct	11	7	2	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:198711490A>C	uc001gur.1	+	25	2865	c.2685A>C	c.(2683-2685)CAA>CAC	p.Q895H	PTPRC_uc001gus.1_Missense_Mutation_p.Q847H|PTPRC_uc001gut.1_Missense_Mutation_p.Q734H	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	895	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.	Substrate (By similarity).			axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						TGATGGTTCAAGTAGAGGTAT	0.363													C	198711490	A	C	198711490	3	2	45	1	0	0	0	0	1	0	0	0	12797	69	3	5	2790	5	PTPRC	1	198711490	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	1090100	198711490	50539131	90	36446											
TNNI1	7135	broad.mit.edu	37	chr1	201398381	201398381	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccatggtggggccattgCaggacgcagcatctgtcttg	15	10	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:201398381C>T	uc001gwo.1	-	2		c.190G>A						P19237	TNNI1_HUMAN	Homo sapiens mRNA for troponin I (TNNI1 gene), alternative termination.						muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding				0						GGGGCCATTGCAGGACGCAGC	0.468													T	201398381	C	T	201398381	1	4	45	0	1	0	0	0	0	0	0	0	16323	725	25	2		2	TNNI1	1	201398381	RNA	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2686891	201398381	47852240	91	36447											
NAV1	89796	broad.mit.edu	37	chr1	201618272	201618272	+	Frame_Shift_Del	DEL	C	C	-													cccggcgggcggcgccaagaCccccctggctccgctcgcgc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:201618271_201618271AC>A	uc021phi.1	+	0	822	c.475_475AC>A	c.(475-477)accfs	p.T159fs	NAV1_uc001gwu.3_Frame_Shift_Del_p.T159fs	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	159					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CGGCGCCAAGACCCCCCTGGC	0.697													-	201618272	C	-	201618272	7	5	45	1	0	1	0	1	0	0	0	0	10183	507	18	0	478	0	NAV1	1	201618272	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	219891	201618272	47632349	92	36448											
NAV1	89796	broad.mit.edu	37	chr1	201750218	201750218	+	Frame_Shift_Del	DEL	A	A	-													aatcagaggagaaagcccctAaaaaactggagtacgacagt							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:201750217_201750217TA>T	uc021phi.1	+	4	1790	c.1443_1443TA>T	c.(1441-1443)cctfs	p.P481fs	NAV1_uc001gwu.3_Frame_Shift_Del_p.P481fs|NAV1_uc001gwv.1_5'UTR|NAV1_uc001gww.2_Frame_Shift_Del_p.P90fs|NAV1_uc001gwx.3_Frame_Shift_Del_p.P90fs|NAV1_uc001gwy.1_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	481					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	p.A480A(1)|p.A480V(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AGAAAGCCCCTAAAAAACTGG	0.512													-	201750218	A	-	201750218	7	5	45	1	0	1	0	1	0	0	0	0	10183	363	13	0	1519	0	NAV1	1	201750218	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	131946	201750218	47500403	93	36449											
ELF3	1999	broad.mit.edu	37	chr1	201983058	201983058	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaatcggcatgaaggcgtcTtcaagttcctgcgctccgag	12	11	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:201983058T>A	uc001gxg.3	+	7	4099	c.907T>A	c.(907-909)TTC>ATC	p.F303I	ELF3_uc001gxi.3_Missense_Mutation_p.F303I|ELF3_uc001gxh.3_Missense_Mutation_p.F303I	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	303	ETS.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						TGAAGGCGTCTTCAAGTTCCT	0.587													A	201983058	T	A	201983058	3	1	45	1	0	0	0	0	1	0	0	0	5055	1609	56	5	933	5	ELF3	1	201983058	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	232840	201983058	47267563	94	36450											
KDM5B	10765	broad.mit.edu	37	chr1	202702738	202702738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagggaggcgagcagggGcagaattttctctaatggag	16	6	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:202702738G>A	uc001gyf.2	-	23	3816	c.3700C>T	c.(3700-3702)CCC>TCC	p.P1234S	KDM5B_uc009xag.2_Missense_Mutation_p.P1270S|KDM5B_uc001gyg.1_Missense_Mutation_p.P1076S	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	1234					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						GCGAGCAGGGGCAGAATTTTC	0.532													A	202702738	G	A	202702738	3	1	45	1	0	0	0	0	1	0	0	0	8134	1203	42	2	954	2	KDM5B	1	202702738	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	719680	202702738	46547883	95	36451											
ATP2B4	493	broad.mit.edu	37	chr1	203669950	203669950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtcatggaaggttctgGccggatggtggtgacagctg	16	8	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:203669950G>A	uc001gzw.2	+	6	1684	c.800G>A	c.(799-801)GGC>GAC	p.G267D	ATP2B4_uc001gzv.2_Missense_Mutation_p.G267D|ATP2B4_uc009xaq.2_Missense_Mutation_p.G267D	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	267	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGGTTCTGGCCGGATGGTG	0.458													A	203669950	G	A	203669950	3	1	45	1	0	0	0	0	1	0	0	0	1142	1203	42	2	818	2	ATP2B4	1	203669950	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	967212	203669950	45580671	96	36452											
MDM4	4194	broad.mit.edu	37	chr1	204506617	204506617	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggatattccaagtcaagacCaactgaaggtaaaatcacca	7	9	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:204506617C>A	uc001hba.2	+	6	565	c.403C>A	c.(403-405)CAA>AAA	p.Q135K	MDM4_uc001hbd.1_RNA|MDM4_uc010pqw.1_Intron|MDM4_uc010pqx.1_Missense_Mutation_p.Q8K|MDM4_uc001hay.1_Missense_Mutation_p.Q135K|MDM4_uc001hbb.2_Missense_Mutation_p.Q8K|MDM4_uc010pqy.1_Intron|MDM4_uc001hbc.2_Intron|MDM4_uc009xbe.1_RNA	NM_002393	NP_002384	O15151	MDM4_HUMAN	mouse double minute 4 homolog	135					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AAGTCAAGACCAACTGAAGGT	0.458			A		GBM|bladder|retinoblastoma								A	204506617	C	A	204506617	3	1	45	1	0	0	0	0	1	0	0	0	9414	595	21	5	421	5	MDM4	1	204506617	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	836667	204506617	44744004	97	36453											
LRRN2	10446	broad.mit.edu	37	chr1	204588433	204588433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcccctccagggcatagtCggagatctcccgcaggttca	11	15	2	1	rs139753603		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:204588433C>T	uc001hbe.1	-	3	1076	c.688G>A	c.(688-690)GAC>AAC	p.D230N	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.D230N|LRRN2_uc009xbf.1_Missense_Mutation_p.D230N|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	230	LRR 7.|Extracellular (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGGGCATAGTCGGAGATCTCC	0.637													T	204588433	C	T	204588433	3	4	45	1	0	0	0	0	1	0	0	0	9035	884	31	1	1457	1	LRRN2	1	204588433	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	81816	204588433	44662188	98	36454											
SLC41A1	254428	broad.mit.edu	37	chr1	205764510	205764510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaaggactgggacagcggCgaggagcttgctcagagttc	15	9	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:205764510C>T	uc001hdh.1	-	9	2041	c.1169G>A	c.(1168-1170)CGC>CAC	p.R390H	SLC41A1_uc001hdg.1_Missense_Mutation_p.R11H	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 member 1	390						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			skin(2)	2	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GGGACAGCGGCGAGGAGCTTG	0.612													T	205764510	C	T	205764510	3	4	45	1	0	0	0	0	1	0	0	0	14629	768	27	1	384	1	SLC41A1	1	205764510	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1176077	205764510	43486111	99	36455											
AVPR1B	553	broad.mit.edu	37	chr1	206225358	206225358	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagatgtggtccgtgtgGgacaagaatgcccctgatga	14	9	0	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:206225358G>A	uc001hds.2	+	1	1076	c.918G>A	c.(916-918)TGG>TGA	p.W306*		NM_000707	NP_000698	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	306	Extracellular (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			ovary(2)|large_intestine(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGTCCGTGTGGGACAAGAATG	0.552													A	206225358	G	A	206225358	4	1	45	1	0	0	0	0	0	1	0	0	1232	1241	43	4	920	4	AVPR1B	1	206225358	Nonsense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	460848	206225358	43025263	100	36456											
PFKFB2	5208	broad.mit.edu	37	chr1	207240864	207240864	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatctttctttcatcaaggTgataaacgtgggccagcgat	11	8	4	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:207240864T>C	uc001hfg.2	+	9	762	c.653T>C	c.(652-654)GTG>GCG	p.V218A	PFKFB2_uc010psc.1_Missense_Mutation_p.V120A|PFKFB2_uc001hfh.2_Missense_Mutation_p.V218A|PFKFB2_uc009xcc.2_Missense_Mutation_p.V176A|PFKFB2_uc010psd.1_Missense_Mutation_p.V32A	NM_006212	NP_006203	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,	218	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			ovary(1)	1	Prostate(682;0.19)					TTCATCAAGGTGATAAACGTG	0.433													C	207240864	T	C	207240864	3	2	45	1	0	0	0	0	1	0	0	0	11761	1696	59	3	683	3	PFKFB2	1	207240864	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1015506	207240864	42009757	101	36457											
GPATCH2	55105	broad.mit.edu	37	chr1	217793264	217793265	+	Frame_Shift_Ins	INS	-	-	T													ctgattattttcaactttctINSttttttgactttgttcttgg					rs3210309		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:217793263_217793264C>CT	uc001hlf.1	-	1	730_731	c.634_635G>AG	c.(634-636)agafs	p.R212fs	GPATCH2_uc001hlg.4_Frame_Shift_Ins_p.R212fs	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	Homo sapiens G patch domain containing 2 (GPATCH2), mRNA.	212						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TTTCAACTTTCTTTTTTTGACT	0.396													T	217793265	-	T	217793264	7	5	45	1	0	1	1	0	0	0	0	0	6591	1617	56	0	988	0	GPATCH2	1	217793264	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	10552400	217793264	31457357	102	36458											
C1orf58	148362	broad.mit.edu	37	chr1	222889118	222889118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactatggtgtagtcactgGcccttctgcttcaaaaatat	7	9	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:222889118G>A	uc001hnq.1	+	2	472	c.77G>A	c.(76-78)GGC>GAC	p.G26D	AIDA_uc010pus.1_5'Flank|C1orf58_uc010put.1_Missense_Mutation_p.G26D|C1orf58_uc010puu.1_Missense_Mutation_p.G26D|C1orf58_uc010puv.1_Missense_Mutation_p.G26D	NM_144695	NP_653296	Q5VW32	BROX_HUMAN	Bro1-domain-containing protein	26						membrane					0				GBM - Glioblastoma multiforme(131;0.0667)		GTAGTCACTGGCCCTTCTGCT	0.368													A	222889118	G	A	222889118	3	1	45	1	0	0	0	0	1	0	0	0	2050	1203	42	2	79	2	C1orf58	1	222889118	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	5095854	222889118	26361503	103	36459											
C1orf58	148362	broad.mit.edu	37	chr1	222898880	222898880	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcatacgttattcaatgtcAggctgaagctcaagaaggta	10	7	3	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:222898880A>G	uc001hnq.1	+	7	958	c.563A>G	c.(562-564)CAG>CGG	p.Q188R	C1orf58_uc010put.1_Missense_Mutation_p.Q156R|C1orf58_uc010puu.1_Missense_Mutation_p.Q188R|C1orf58_uc010puv.1_Missense_Mutation_p.Q156R	NM_144695	NP_653296	Q5VW32	BROX_HUMAN	Bro1-domain-containing protein	188	BRO1.					membrane					0				GBM - Glioblastoma multiforme(131;0.0667)		ATTCAATGTCAGGCTGAAGCT	0.328													G	222898880	A	G	222898880	3	3	45	1	0	0	0	0	1	0	0	0	2050	188	7	3	585	3	C1orf58	1	222898880	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	9762	222898880	26351741	104	36460											
DISP1	84976	broad.mit.edu	37	chr1	223177973	223177973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatcttctctctgagtcgCgtgggctctgcgatggccat	13	11	4	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:223177973C>T	uc001hnu.1	+	8	3381	c.3234C>T	c.(3232-3234)CGC>CGT	p.R1078R		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	1078					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		CTCTGAGTCGCGTGGGCTCTG	0.592													T	223177973	C	T	223177973	2	4	45	1	0	0	0	0	0	0	0	1	4539	755	27	1		1	DISP1	1	223177973	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	279093	223177973	26072648	105	36461											
CNIH3	149111	broad.mit.edu	37	chr1	224922304	224922304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatagctcagaactagcctaCgacccaccggtggtcatgaa	10	12	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:224922304C>T	uc001hos.1	+	5	1049	c.351C>T	c.(349-351)TAC>TAT	p.Y117Y		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	cornichon homolog 3	117	Cytoplasmic (Potential).				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane					0	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		AACTAGCCTACGACCCACCGG	0.517													T	224922304	C	T	224922304	2	4	45	1	0	0	0	0	0	0	0	1	3604	547	19	1		1	CNIH3	1	224922304	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1744331	224922304	24328317	106	36462											
GJC2	57165	broad.mit.edu	37	chr1	228345675	228345675	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgctatgacgccttcgcGcccctgtcgcacgtgcgctt	11	16	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:228345675G>A	uc001hsk.2	+	2	391	c.216G>A	c.(214-216)GCG>GCA	p.A72A		NM_020435	NP_065168	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	72	Extracellular (Potential).				cell death	connexon complex|integral to membrane					0		Prostate(94;0.0405)				ACGCCTTCGCGCCCCTGTCGC	0.657													A	228345675	G	A	228345675	2	1	45	1	0	0	0	0	0	0	0	1	6415	1074	38	1		1	GJC2	1	228345675	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	3423371	228345675	20904946	107	36463											
PCNXL2	80003	broad.mit.edu	37	chr1	233397834	233397834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggttatgctttgccctctgGagctgcagcggaggggaggc	17	9	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:233397834G>A	uc001hvl.2	-	3	672	c.437C>T	c.(436-438)TCC>TTC	p.S146F	PCNXL2_uc009xfu.2_5'Flank|PCNXL2_uc009xfv.1_5'Flank	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	146						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				TTGCCCTCTGGAGCTGCAGCG	0.483													A	233397834	G	A	233397834	3	1	45	1	0	0	0	0	1	0	0	0	11592	1174	41	4	6104	4	PCNXL2	1	233397834	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	5052159	233397834	15852787	108	36464											
TARBP1	6894	broad.mit.edu	37	chr1	234569180	234569180	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccactgtccatctcttgaagAtgctgaatggatgcattttt	8	9	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:234569180A>T	uc001hwd.2	-	14	2370	c.2370T>A	c.(2368-2370)CAT>CAA	p.H790Q		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	790					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCTCTTGAAGATGCTGAATGG	0.378													T	234569180	A	T	234569180	3	4	45	1	0	0	0	0	1	0	0	0	15552	330	12	5	2563	5	TARBP1	1	234569180	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	1171346	234569180	14681441	109	36465											
NID1	4811	broad.mit.edu	37	chr1	236189263	236189263	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctcctggttgtacaggacGaacacgctgtccaccgagag	11	13	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:236189263G>A	uc001hxo.2	-	8	2019	c.1917C>T	c.(1915-1917)TTC>TTT	p.F639F	NID1_uc009xgd.2_Silent_p.F639F	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	639	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TGTACAGGACGAACACGCTGT	0.602													A	236189263	G	A	236189263	2	1	45	1	0	0	0	0	0	0	0	1	10414	1049	37	1		1	NID1	1	236189263	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1620083	236189263	13061358	110	36466											
HEATR1	55127	broad.mit.edu	37	chr1	236766615	236766615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgctagctgactgaacaaCggtgcttcaaactgctcaaa	8	10	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:236766615C>T	uc001hyd.1	-	3	329	c.204G>A	c.(202-204)CCG>CCA	p.P68P	HEATR1_uc001hye.1_Silent_p.P68P	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	68					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GACTGAACAACGGTGCTTCAA	0.383													T	236766615	C	T	236766615	2	4	45	1	0	0	0	0	0	0	0	1	7027	523	19	1		1	HEATR1	1	236766615	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	577352	236766615	12484006	111	36467											
FMN2	56776	broad.mit.edu	37	chr1	240555815	240555815	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttgcactttcagccaaAattgaccaagaggcagagga	9	9	2	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:240555815A>C	uc010pyd.1	+	15	5088	c.4863A>C	c.(4861-4863)AAA>AAC	p.K1621N	FMN2_uc010pye.1_Missense_Mutation_p.K1625N|FMN2_uc010pyf.1_Missense_Mutation_p.K236N|FMN2_uc010pyg.1_Missense_Mutation_p.K217N	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1621	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTTCAGCCAAAATTGACCAAG	0.333													C	240555815	A	C	240555815	3	2	45	1	0	0	0	0	1	0	0	0	5950	11	1	5	4921	5	FMN2	1	240555815	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	3789200	240555815	8694806	112	36468											
EXO1	9156	broad.mit.edu	37	chr1	242035442	242035442	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgagcttttctgaagtgtTtgtgcctgacctggtaaatg	11	6	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:242035442T>C	uc001hzh.2	+	12	1916	c.1376T>C	c.(1375-1377)TTT>TCT	p.F459S	EXO1_uc001hzi.2_Missense_Mutation_p.F459S|EXO1_uc001hzj.2_Missense_Mutation_p.F459S|EXO1_uc009xgq.2_Missense_Mutation_p.F458S	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	459	Interaction with MLH1.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TCTGAAGTGTTTGTGCCTGAC	0.363								Direct_reversal_of_damage|Editing_and_processing_nucleases					C	242035442	T	C	242035442	3	2	45	1	0	0	0	0	1	0	0	0	5300	1841	64	3	1410	3	EXO1	1	242035442	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1479627	242035442	7215179	113	36469											
KIF26B	55083	broad.mit.edu	37	chr1	245850169	245850169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgagggtgagcagtcgtGccacagtttcatagcccaga	13	10	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:245850169G>A	uc001ibf.1	+	12	4324	c.3884G>A	c.(3883-3885)TGC>TAC	p.C1295Y	KIF26B_uc001ibg.1_Missense_Mutation_p.C913Y|KIF26B_uc001ibh.1_Missense_Mutation_p.C537Y	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1295					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GAGCAGTCGTGCCACAGTTTC	0.612													A	245850169	G	A	245850169	3	1	45	1	0	0	0	0	1	0	0	0	8295	1319	46	2	3930	2	KIF26B	1	245850169	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	3814727	245850169	3400452	114	36470											
OR2W5	441932	broad.mit.edu	37	chr1	247654805	247654805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatgaccgctatgtggccGtctgccggtccctgcactac	10	17	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:247654805G>A	uc001icz.1	+	1	376	c.376G>A	c.(376-378)GTC>ATC	p.V126I		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTATGTGGCCGTCTGCCGGTC	0.587													A	247654805	G	A	247654805	3	1	45	1	0	0	0	0	1	0	0	0	11034	1145	40	1	378	1	OR2W5	1	247654805	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1804636	247654805	1595816	115	36471											
OR2G3	81469	broad.mit.edu	37	chr1	247769135	247769135	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgctcctcagaccttagTtaacttgcaaagaccaaaga	6	12	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:247769135T>G	uc010pyz.1	+	1	248	c.248T>G	c.(247-249)GTT>GGT	p.V83G		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	83	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CAGACCTTAGTTAACTTGCAA	0.463													G	247769135	T	G	247769135	3	3	45	1	0	0	0	0	1	0	0	0	10999	1725	60	5	250	5	OR2G3	1	247769135	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	114330	247769135	1481486	116	36472											
TRIM58	25893	broad.mit.edu	37	chr1	248020822	248020822	+	Frame_Shift_Del	DEL	G	G	-													tggggttgggcgcggggcccGgggcgcggcgatgcgcgcgg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:248020822delG	uc001ido.2	+	1	322	c.274delG	c.(274-276)GGGfs	p.G92fs		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	92	B box-type.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			cgcggggcccggggcgcggcg	0.667													-	248020822	G	-	248020822	7	5	45	1	0	1	0	1	0	0	0	0	16528	1116	39	0	276	0	TRIM58	1	248020822	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	251687	248020822	1229799	117	36473											
OR2L8	391190	broad.mit.edu	37	chr1	248112658	248112658	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatatgtactccatattcctTattgccgatccagggccatc	6	12	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:248112658T>C	uc001idt.1	+	1	499	c.499T>C	c.(499-501)TAT>CAT	p.Y167H	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCATATTCCTTATTGCCGATC	0.478													C	248112658	T	C	248112658	3	2	45	1	0	0	0	0	1	0	0	0	11009	1754	61	3	501	3	OR2L8	1	248112658	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	91836	248112658	1137963	118	36474											
OR2M5	127059	broad.mit.edu	37	chr1	248309379	248309379	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgttaggaaagggcaagtgTggagagtgagtactttgtaa	16	2	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:248309379T>C	uc010pze.1	+	1	930	c.930T>C	c.(928-930)TGT>TGC	p.C310C		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	310	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			AGGGCAAGTGTGGAGAGTGAG	0.428													C	248309379	T	C	248309379	2	2	45	1	0	0	0	0	0	0	0	1	11013	1702	59	3		3	OR2M5	1	248309379	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	196721	248309379	941242	119	36475											
OR2T33	391195	broad.mit.edu	37	chr1	248436684	248436684	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcacccaggagccaacacgAcatggtcatcctcaggcaca	9	15	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr1:248436684A>G	uc010pzi.1	-	1	433	c.433T>C	c.(433-435)TCG>CCG	p.S145P		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGCCAACACGACATGGTCATC	0.577													G	248436684	A	G	248436684	3	3	45	1	0	0	0	0	1	0	0	0	11024	275	10	3	532	3	OR2T33	1	248436684	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	127305	248436684	813937	120	36476											
TPO	7173	broad.mit.edu	37	chr2	1507748	1507748	+	Frame_Shift_Del	DEL	C	C	-													gagtgtgcagacggtgcccaCcccccctgccacgcctctgc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:1507747_1507747AC>A	uc002qwr.3	+	13	2500	c.2414_2414AC>A	c.(2413-2415)cacfs	p.H805fs	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Frame_Shift_Del_p.H805fs|TPO_uc002qwx.3_Frame_Shift_Del_p.H748fs|TPO_uc002qwu.3_Frame_Shift_Del_p.H748fs|TPO_uc010yio.2_Frame_Shift_Del_p.H632fs|TPO_uc010yip.2_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	805	EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.H805L(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACGGTGCCCACCCCCCCTGC	0.642													-	1507748	C	-	1507748	7	5	45	1	0	1	0	1	0	0	0	0	16407	506	18	0	2465	0	TPO	2	1507748	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08		1507748	241691625	121	36477											
ALLC	55821	broad.mit.edu	37	chr2	3743890	3743890	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggggcaaagtctatggcGgatggttgggaaactgcaag	18	6	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:3743890G>A	uc010ewt.2	+	9	854	c.693G>A	c.(691-693)GCG>GCA	p.A231A	ALLC_uc002qyf.2_Silent_p.A2A	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	allantoicase isoform a	250							allantoicase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		AGTCTATGGCGGATGGTTGGG	0.348										HNSCC(21;0.051)			A	3743890	G	A	3743890	2	1	45	1	0	0	0	0	0	0	0	1	534	1103	39	1		1	ALLC	2	3743890	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2236142	3743890	239455483	122	36478											
ASAP2	8853	broad.mit.edu	37	chr2	9515014	9515014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagagatatttttggattgCtccaagcttatgctgatggt	11	6	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:9515014C>T	uc002qzh.2	+	17	2027	c.1687C>T	c.(1687-1689)CTC>TTC	p.L563F	ASAP2_uc002qzi.2_Missense_Mutation_p.L563F	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	563					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						TTTTGGATTGCTCCAAGCTTA	0.448													T	9515014	C	T	9515014	3	4	45	1	0	0	0	0	1	0	0	0	1011	797	28	2	1753	2	ASAP2	2	9515014	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	5771124	9515014	233684359	123	36479											
TAF1B	9014	broad.mit.edu	37	chr2	10022916	10022916	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattatatggacgtgacagAggaatctttggtatagaggt	12	3	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:10022916A>G	uc002qzz.2	+	8	889	c.789A>G	c.(787-789)AGA>AGG	p.R263R	TAF1B_uc010exc.2_Silent_p.R263R|TAF1B_uc002qzy.3_Silent_p.R263R|TAF1B_uc010yja.1_Silent_p.R8R|TAF1B_uc010exd.2_Silent_p.R8R	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	TBP-associated factor 1B	263					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|breast(1)|pancreas(1)	3	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GACGTGACAGAGGAATCTTTG	0.313													G	10022916	A	G	10022916	2	3	45	1	0	0	0	0	0	0	0	1	15517	301	11	3		3	TAF1B	2	10022916	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	507902	10022916	233176457	124	36480											
DNMT3A	1788	broad.mit.edu	37	chr2	25505567	25505567	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagggtcctttggcgtgTcaccgctttccacctgcaaa	10	15	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:25505567T>G	uc002rgc.2	-	4	448	c.191A>C	c.(190-192)GAC>GCC	p.D64A	DNMT3A_uc002rgd.2_Missense_Mutation_p.D64A|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rge.2_Missense_Mutation_p.D61A|DNMT3A_uc002rgf.2_Missense_Mutation_p.D64A	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	64					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTGGCGTGTCACCGCTTTC	0.413			Mis|F|N|S		AML								G	25505567	T	G	25505567	3	3	45	1	0	0	0	0	1	0	0	0	4676	1667	58	5	2760	5	DNMT3A	2	25505567	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	15482651	25505567	217693806	125	36481											
ASXL2	55252	broad.mit.edu	37	chr2	25965810	25965810	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaaagctctctgagccccgGccgtaggtagaaatattcag	10	11	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:25965810G>A	uc002rgs.2	-	12	3617	c.3396C>T	c.(3394-3396)GGC>GGT	p.G1132G	ASXL2_uc002rgt.1_Silent_p.G615G	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	1132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGAGCCCCGGCCGTAGGTAG	0.488													A	25965810	G	A	25965810	2	1	45	1	0	0	0	0	0	0	0	1	1067	1190	42	2		2	ASXL2	2	25965810	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	460243	25965810	217233563	126	36482											
GALNT14	79623	broad.mit.edu	37	chr2	31360851	31360851	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctgcacttcaggtcccgtCggcacctccaacttcctctt	7	17	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:31360851C>T	uc002rnr.2	-	1	721	c.102G>A	c.(100-102)CCG>CCA	p.P34P	GALNT14_uc002rns.2_Silent_p.P34P|GALNT14_uc010ymr.1_5'UTR|GALNT14_uc010ezo.1_Silent_p.P34P|GALNT14_uc010ezp.1_Intron	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	34	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					CAGGTCCCGTCGGCACCTCCA	0.672													T	31360851	C	T	31360851	2	4	45	1	0	0	0	0	0	0	0	1	6212	871	31	1		1	GALNT14	2	31360851	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	5395041	31360851	211838522	127	36483											
TMEM178	130733	broad.mit.edu	37	chr2	39893185	39893185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccctggggctgctcgtcaCggccatcttcaccgaccact	9	18	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:39893185C>T	uc002rrt.2	+	1	96	c.71C>T	c.(70-72)ACG>ATG	p.T24M	TMEM178_uc010fam.1_Missense_Mutation_p.T24M	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	transmembrane protein 178 precursor	24						integral to membrane					0		all_hematologic(82;0.248)				CTGCTCGTCACGGCCATCTTC	0.632													T	39893185	C	T	39893185	3	4	45	1	0	0	0	0	1	0	0	0	16092	536	19	1	73	1	TMEM178	2	39893185	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	8532334	39893185	203306188	128	36484											
SLC8A1	6546	broad.mit.edu	37	chr2	40657279	40657279	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtaatatgatccagtacattCaccagtttcatttccttctc	4	11	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:40657279C>A	uc002rrx.2	-	1	166	c.142G>T	c.(142-144)GAA>TAA	p.E48*	SLC8A1_uc002rry.2_Nonsense_Mutation_p.E48*|SLC8A1_uc002rrz.2_Nonsense_Mutation_p.E48*|SLC8A1_uc002rsa.2_Nonsense_Mutation_p.E48*|SLC8A1_uc002rsd.3_Nonsense_Mutation_p.E48*|SLC8A1_uc002rsb.1_Nonsense_Mutation_p.E48*|SLC8A1_uc010fan.1_Nonsense_Mutation_p.E48*|SLC8A1_uc002rsc.1_Nonsense_Mutation_p.E48*	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	48	Extracellular (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCAGTACATTCACCAGTTTCA	0.408													A	40657279	C	A	40657279	4	1	45	1	0	0	0	0	0	1	0	0	14706	835	29	5	2927	5	SLC8A1	2	40657279	Nonsense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	764094	40657279	202542094	129	36485											
ABCG5	64240	broad.mit.edu	37	chr2	44051074	44051074	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattcacagcgttcagcatGcctgtgtacggggtggcgcc	14	11	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:44051074G>A	uc002rtn.2	-	9	1442	c.1302C>T	c.(1300-1302)GGC>GGT	p.G434G	ABCG5_uc002rtm.2_Silent_p.G39G|ABCG5_uc002rto.2_Silent_p.G263G|ABCG5_uc002rtp.2_Silent_p.G39G	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5	434	Helical; Name=2; (Potential).|ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			ovary(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGTTCAGCATGCCTGTGTACG	0.527													A	44051074	G	A	44051074	2	1	45	1	0	0	0	0	0	0	0	1	71	1306	46	2		2	ABCG5	2	44051074	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	3393795	44051074	199148299	130	36486											
PREPL	9581	broad.mit.edu	37	chr2	44550553	44550553	+	Splice_Site	DEL	A	A	-													aacatccaagaaaggtgcctAaaaaaaaggcaaagaaactt							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:44550552_44550552TA>T	uc002ruf.3	-	11	2706	c.1747_splice	c.e11-1	p.A583_splice	PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	583					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAAAGGTGCCTAAAAAAAAGG	0.333													-	44550553	A	-	44550553	8	5	45	1	0	1	0	1	0	0	1	0	12475	377	13	0		0	PREPL	2	44550553	Splice_Site	DEL	A	TCGA-BR-6852-01A-11D-1882-08	499479	44550553	198648820	131	36487											
SIX2	10736	broad.mit.edu	37	chr2	45235980	45235980	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctccgcctcgatgtagtgTgccttgagccacagctgctg	11	13	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:45235980T>C	uc002ruo.2	-	1	563	c.270A>G	c.(268-270)GCA>GCG	p.A90A	SIX2_uc002rup.2_Silent_p.A90A	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	90						nucleus	sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CGATGTAGTGTGCCTTGAGCC	0.662													C	45235980	T	C	45235980	2	2	45	1	0	0	0	0	0	0	0	1	14347	1683	59	3		3	SIX2	2	45235980	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	685427	45235980	197963393	132	36488											
EPAS1	2034	broad.mit.edu	37	chr2	46583304	46583304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccagtttgctctgaaaacGagtccgaagccgaagctgac	10	11	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:46583304G>A	uc002ruv.2	+	3	720	c.232G>A	c.(232-234)GAG>AAG	p.E78K		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	78					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTCTGAAAACGAGTCCGAAGC	0.527													A	46583304	G	A	46583304	3	1	45	1	0	0	0	0	1	0	0	0	5150	1059	37	1	242	1	EPAS1	2	46583304	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1347324	46583304	196616069	133	36489											
MSH6	2956	broad.mit.edu	37	chr2	48030640	48030641	+	Frame_Shift_Ins	INS	-	-	C													attctgttgccggaagatacINScccccccttcttagagctta					rs63749866		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:48030639_48030640A>AC	uc002rwd.4	+	4	3405_3406	c.3253_3254A>AC	c.(3253-3255)accfs	p.T1085fs	MSH6_uc010fbj.3_Frame_Shift_Ins_p.T783fs|MSH6_uc010yoj.2_Frame_Shift_Ins_p.T783fs	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	1085					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)|p.F1088fs*5(1)|p.F1088fs*2(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCCGGAAGATACCCCCCCCTTC	0.436			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				C	48030641	-	C	48030640	7	5	45	1	0	1	1	0	0	0	0	0	9874	507	18	0	3272	0	MSH6	2	48030640	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	1447336	48030640	195168733	134	36490											
FBXO11	80204	broad.mit.edu	37	chr2	48066832	48066832	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttcggcaaaagagttttTctacgaagttggtatggact	10	6	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:48066832T>C	uc010fbl.2	-	2	171	c.57A>G	c.(55-57)AGA>AGG	p.R19R	FBXO11_uc002rwe.2_Silent_p.R19R|FBXO11_uc002rwf.2_Silent_p.R19R|FBXO11_uc002rwg.1_Silent_p.R19R	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	103					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGAGTTTTTCTACGAAGTT	0.368													C	48066832	T	C	48066832	2	2	45	1	0	0	0	0	0	0	0	1	5727	1780	62	3		3	FBXO11	2	48066832	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	36192	48066832	195132541	135	36491											
MTIF2	4528	broad.mit.edu	37	chr2	55490842	55490842	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacatctgttggccagggCcaggcacacagttgagctgt	13	11	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:55490842C>T	uc002ryn.2	-	5	890	c.153G>A	c.(151-153)TGG>TGA	p.W51*	MTIF2_uc010yox.1_5'UTR|MTIF2_uc002ryo.2_Nonsense_Mutation_p.W51*|MTIF2_uc002ryp.1_RNA	NM_001005369	NP_001005369	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	51					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			ovary(1)	1						TTGGCCAGGGCCAGGCACACA	0.423													T	55490842	C	T	55490842	4	4	45	1	0	0	0	0	0	1	0	0	9934	740	26	2	2082	2	MTIF2	2	55490842	Nonsense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	7424010	55490842	187708531	136	36492											
BCL11A	53335	broad.mit.edu	37	chr2	60688703	60688703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcgctggtgccgggttcCggggagctggcggtggagag	21	8	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:60688703C>T	uc002sae.1	-	4	1572	c.1344G>A	c.(1342-1344)CCG>CCA	p.P448P	BCL11A_uc002sab.2_Silent_p.P448P|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Silent_p.P117P|BCL11A_uc010ypj.1_Silent_p.P414P|BCL11A_uc002sad.1_Silent_p.P296P|BCL11A_uc002saf.1_Silent_p.P414P	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	448					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGCCGGGTTCCGGGGAGCTGG	0.627			T	IGH@	B-CLL								T	60688703	C	T	60688703	2	4	45	1	0	0	0	0	0	0	0	1	1363	639	23	1		1	BCL11A	2	60688703	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	5197861	60688703	182510670	137	36493											
SPRED2	200734	broad.mit.edu	37	chr2	65571937	65571937	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaccttacagaccccgacGcgactgatcccgcctccttc	7	18	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:65571937G>A	uc002sdr.3	-	2	655	c.120C>T	c.(118-120)CGC>CGT	p.R40R	SPRED2_uc010fcw.2_Silent_p.R37R|SPRED2_uc010fcx.1_RNA	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	40	WH1.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3						AGACCCCGACGCGACTGATCC	0.532													A	65571937	G	A	65571937	2	1	45	1	0	0	0	0	0	0	0	1	15092	1074	38	1		1	SPRED2	2	65571937	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	4883234	65571937	177627436	138	36494											
AAK1	22848	broad.mit.edu	37	chr2	69748037	69748037	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctggctggatgggaaggattCctgggttcggctgagtctgc	17	8	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:69748037C>A	uc002sfp.2	-	11	1644	c.1139G>T	c.(1138-1140)GGA>GTA	p.G380V	AAK1_uc010fdk.2_Missense_Mutation_p.G380V|AAK1_uc010yqm.1_Missense_Mutation_p.G380V|SNORA36C_uc010fdl.2_5'Flank	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	380						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0						GGGAAGGATTCCTGGGTTCGG	0.552													A	69748037	C	A	69748037	3	1	45	1	0	0	0	0	1	0	0	0	16	855	30	5	1794	5	AAK1	2	69748037	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	4176100	69748037	173451336	139	36495											
MPHOSPH10	10199	broad.mit.edu	37	chr2	71360643	71360643	+	Frame_Shift_Del	DEL	T	T	-													gaggaggaggaagatattgaTttttttgaagatattgattc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:71360642_71360642AT>A	uc002sht.2	+	1	1056	c.704_704AT>A	c.(703-705)gatfs	p.D235fs	MPHOSPH10_uc010feb.1_Frame_Shift_Del_p.D235fs	NM_005791	NP_005782	O00566	MPP10_HUMAN	Homo sapiens M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) (MPHOSPH10), mRNA.	235					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GAAGATATTGATTTTTTTGAA	0.343													-	71360643	T	-	71360643	7	5	45	1	0	1	0	1	0	0	0	0	9725	1490	52	0	711	0	MPHOSPH10	2	71360643	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	1612606	71360643	171838730	140	36496											
MPHOSPH10	10199	broad.mit.edu	37	chr2	71365669	71365669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagttgttagaaaaaaagcCgtggcagcttcagggggaag	15	5	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:71365669C>T	uc002sht.1	+	5	1500	c.1148C>T	c.(1147-1149)CCG>CTG	p.P383L	MPHOSPH10_uc010feb.1_Missense_Mutation_p.P383L	NM_005791	NP_005782	O00566	MPP10_HUMAN	M-phase phosphoprotein 10	383					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			skin(2)|ovary(1)	3						GAAAAAAAGCCGTGGCAGCTT	0.398													T	71365669	C	T	71365669	3	4	45	1	0	0	0	0	1	0	0	0	9725	652	23	1	1166	1	MPHOSPH10	2	71365669	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	5026	71365669	171833704	141	36497											
DQX1	165545	broad.mit.edu	37	chr2	74749707	74749707	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttacagcagcgatttatacCtgtgagcatggcagccaggg	12	9	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:74749707C>A	uc010yrw.1	-	8	1660	c.1495G>T	c.(1495-1497)GCT>TCT	p.A499S	DQX1_uc002smc.2_Missense_Mutation_p.A60S	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	499						nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						CGATTTATACCTGTGAGCATG	0.438													A	74749707	C	A	74749707	3	1	45	1	0	0	0	0	1	0	0	0	4751	695	24	5	678	5	DQX1	2	74749707	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3384038	74749707	168449666	142	36498											
LRRTM4	80059	broad.mit.edu	37	chr2	77746748	77746748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatataagctggttaaggcCggcaaactgattggatttga	11	7	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:77746748C>T	uc002snr.2	-	3	662	c.247G>A	c.(247-249)GGC>AGC	p.G83S	LRRTM4_uc002snq.2_Missense_Mutation_p.G83S|LRRTM4_uc002sns.2_Missense_Mutation_p.G83S|LRRTM4_uc002snt.2_Missense_Mutation_p.G84S	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	83	LRR 1.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		TGGTTAAGGCCGGCAAACTGA	0.403													T	77746748	C	T	77746748	3	4	45	1	0	0	0	0	1	0	0	0	9042	652	23	1	1539	1	LRRTM4	2	77746748	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2997041	77746748	165452625	143	36499											
RETSAT	54884	broad.mit.edu	37	chr2	85581587	85581587	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtaaactttgcagaggacgGccagcagcagcacagccagg	13	11	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:85581587G>T	uc002spd.2	-	1	235	c.44C>A	c.(43-45)GCC>GAC	p.A15D	ELMOD3_uc010fgg.2_5'Flank|ELMOD3_uc002spf.3_5'Flank|ELMOD3_uc002spg.3_5'Flank|ELMOD3_uc002sph.3_5'Flank|ELMOD3_uc010ysn.1_5'Flank|ELMOD3_uc010yso.1_5'Flank|ELMOD3_uc010ysp.1_5'Flank|RETSAT_uc010ysm.1_Missense_Mutation_p.A15D|RETSAT_uc010fgf.2_Missense_Mutation_p.A15D	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	all-trans-13,14-dihydroretinol saturase	15					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)	GCAGAGGACGGCCAGCAGCAG	0.607													T	85581587	G	T	85581587	3	4	45	1	0	0	0	0	1	0	0	0	13238	1203	42	5	1832	5	RETSAT	2	85581587	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	7834839	85581587	157617786	144	36500											
ELMOD3	84173	broad.mit.edu	37	chr2	85604483	85604483	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggagcgaatccagccacAgacctgagaggcgcaggctt	13	12	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:85604483A>G	uc002spf.3	+	12	1289	c.624A>G	c.(622-624)ACA>ACG	p.T208T	ELMOD3_uc010fgg.2_RNA|ELMOD3_uc002spg.3_Silent_p.T208T|ELMOD3_uc002sph.3_Silent_p.T208T|ELMOD3_uc010ysn.1_Silent_p.T208T|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA	NM_001135021	NP_001128493	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3 isoform b	208	ELMO.				phagocytosis	cytoskeleton				ovary(2)	2						ATCCAGCCACAGACCTGAGAG	0.587													G	85604483	A	G	85604483	2	3	45	1	0	0	0	0	0	0	0	1	5070	175	7	3		3	ELMOD3	2	85604483	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	22896	85604483	157594890	145	36501											
KDM3A	55818	broad.mit.edu	37	chr2	86712114	86712114	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttgaaacttaaggactgGccaccaggagaagattttag	12	6	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:86712114G>A	uc002sri.3	+	20	3471	c.3144G>A	c.(3142-3144)TGG>TGA	p.W1048*	KDM3A_uc010ytj.1_Nonsense_Mutation_p.W1048*|KDM3A_uc010ytk.1_Nonsense_Mutation_p.W996*	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	1048					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						TTAAGGACTGGCCACCAGGAG	0.358													A	86712114	G	A	86712114	4	1	45	1	0	0	0	0	0	1	0	0	8126	1212	42	2	3218	2	KDM3A	2	86712114	Nonsense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1107631	86712114	156487259	146	36502											
ACTR1B	10120	broad.mit.edu	37	chr2	98274469	98274469	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtccggcgcaggtccaTgtcggacttgtgtatggcga	15	11	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:98274469T>C	uc002syb.2	-	8	1070	c.862A>G	c.(862-864)ATG>GTG	p.M288V		NM_005735	NP_005726	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B,	288						centrosome|dynactin complex	ATP binding|protein binding			skin(1)	1						CGCAGGTCCATGTCGGACTTG	0.607													C	98274469	T	C	98274469	3	2	45	1	0	0	0	0	1	0	0	0	210	1464	51	3	284	3	ACTR1B	2	98274469	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	11562355	98274469	144924904	147	36503											
EIF5B	9669	broad.mit.edu	37	chr2	99985021	99985022	+	Frame_Shift_Ins	INS	-	-	A													ttatgaagataaaaagaggaINSaaaaaataccacagcagcta							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:99985020_99985021G>GA	uc002tab.3	+	6	1537_1538	c.1353_1354G>GA	c.(1351-1356)aggaaafs	p.R451fs		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	451					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	p.K450N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATAAAAAGAGGAAAAAAATACC	0.347													A	99985022	-	A	99985021	7	5	45	1	0	1	1	0	0	0	0	0	5044	247	9	0	1380	0	EIF5B	2	99985021	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	1710552	99985021	143214352	148	36504											
IL1R2	7850	broad.mit.edu	37	chr2	102625045	102625045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtcaggagcaatgttgcGcttgtacgtgttggtaatgg	15	5	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:102625045G>A	uc002tbm.2	+	2	237	c.8G>A	c.(7-9)CGC>CAC	p.R3H	IL1R2_uc002tbn.2_Missense_Mutation_p.R3H|IL1R2_uc002tbo.1_Missense_Mutation_p.R3H	NM_004633	NP_004624	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II precursor	3					immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			ovary(1)|breast(1)	2					Anakinra(DB00026)	GCAATGTTGCGCTTGTACGTG	0.532													A	102625045	G	A	102625045	3	1	45	1	0	0	0	0	1	0	0	0	7659	1087	38	1	10	1	IL1R2	2	102625045	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2640024	102625045	140574328	149	36505											
SLC9A4	389015	broad.mit.edu	37	chr2	103130652	103130652	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagctggaaatgaagcaaGccatcgagatggtggagact	14	6	0	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:103130652G>T	uc002tbz.3	+	8	2120	c.1663G>T	c.(1663-1665)GCC>TCC	p.A555S		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	555	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						AATGAAGCAAGCCATCGAGAT	0.234													T	103130652	G	T	103130652	3	4	45	1	0	0	0	0	1	0	0	0	14716	971	34	5	1693	5	SLC9A4	2	103130652	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	505607	103130652	140068721	150	36506											
ACOXL	55289	broad.mit.edu	37	chr2	111562961	111562961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggctttccaagctatgGgtgccatgaaggtaattgac	12	8	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:111562961G>A	uc002tgr.3	+	9	966	c.742G>A	c.(742-744)GGT>AGT	p.G248S	ACOXL_uc010fkc.2_Missense_Mutation_p.G248S|ACOXL_uc010yxk.1_Missense_Mutation_p.G248S	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN	acyl-Coenzyme A oxidase-like 2	248					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity				0						CCAAGCTATGGGTGCCATGAA	0.453													A	111562961	G	A	111562961	3	1	45	1	0	0	0	0	1	0	0	0	161	1232	43	4	772	4	ACOXL	2	111562961	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	8432309	111562961	131636412	151	36507											
ZC3H6	376940	broad.mit.edu	37	chr2	113069467	113069467	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagaacgtgggggaagaAccaataaagggcctaatgtg	14	5	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:113069467A>C	uc002thq.1	+	5	1094	c.700A>C	c.(700-702)ACC>CCC	p.T234P		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	234							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4						TGGGGGAAGAACCAATAAAGG	0.368													C	113069467	A	C	113069467	3	2	45	1	0	0	0	0	1	0	0	0	17568	43	2	5	718	5	ZC3H6	2	113069467	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	1506506	113069467	130129906	152	36508											
RGPD5	84220	broad.mit.edu	37	chr2	113146043	113146043	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgatttcttctaatacagcTacagcaattttgccacatgg	7	9	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:113146043T>C	uc002ths.1	-	20	4556	c.4479A>G	c.(4477-4479)GTA>GTG	p.V1493V	RGPD8_uc010fkk.1_Silent_p.V1353V|RGPD5_uc002tht.1_Silent_p.V744V	NM_005054	NP_005045	Q99666	RGPD5_HUMAN	RANBP2-like and GRIP domain containing 5 isoform	1493					intracellular transport	cytoplasm	binding				0						CTAATACAGCTACAGCAATTT	0.418													C	113146043	T	C	113146043	2	2	45	1	0	0	0	0	0	0	0	1	13289	1509	53	3		3	RGPD5	2	113146043	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	76576	113146043	130053330	153	36509											
EPB41L5	57669	broad.mit.edu	37	chr2	120836150	120836150	+	Frame_Shift_Del	DEL	T	T	-													gagataccaaaattggcttaTttttttggtaagcaagagtt					rs35675992		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:120836149_120836149AT>A	uc002tmg.3	+	9	986	c.795_795AT>A	c.(793-795)ttafs	p.L265fs	EPB41L5_uc010flk.3_Frame_Shift_Del_p.L265fs|EPB41L5_uc010fll.3_Frame_Shift_Del_p.L265fs|EPB41L5_uc002tmh.4_Frame_Shift_Del_p.L265fs|EPB41L5_uc010flm.3_Frame_Shift_Del_p.L69fs	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA.	265	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AAATTGGCTTATTTTTTTGGT	0.313													-	120836150	T	-	120836150	7	5	45	1	0	1	0	1	0	0	0	0	5157	1493	52	0	830	0	EPB41L5	2	120836150	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	7690107	120836150	122363223	154	36510											
INHBB	3625	broad.mit.edu	37	chr2	121106806	121106806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtcctggagaagggcagcCggcggaaggtgcgggtcaaa	18	9	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:121106806C>T	uc002tmn.2	+	2	626	c.580C>T	c.(580-582)CGG>TGG	p.R194W		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	194					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)				GAAGGGCAGCCGGCGGAAGGT	0.597													T	121106806	C	T	121106806	3	4	45	1	0	0	0	0	1	0	0	0	7742	643	23	1	586	1	INHBB	2	121106806	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	270656	121106806	122092567	155	36511											
GLI2	2736	broad.mit.edu	37	chr2	121746625	121746625	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtggcggcaggagtggaCggcgcggggcccgaggccga	22	12	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:121746625C>T	uc010flp.2	+	13	3165	c.3135C>T	c.(3133-3135)GAC>GAT	p.D1045D	GLI2_uc002tmq.1_Silent_p.D717D|GLI2_uc002tmr.1_Silent_p.D700D|GLI2_uc002tmt.3_Silent_p.D717D|GLI2_uc002tmu.3_Silent_p.D700D	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1045					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				CAGGAGTGGACGGCGCGGGGC	0.736													T	121746625	C	T	121746625	2	4	45	1	0	0	0	0	0	0	0	1	6438	535	19	1		1	GLI2	2	121746625	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	639819	121746625	121452748	156	36512											
AMMECR1L	83607	broad.mit.edu	37	chr2	128628936	128628936	+	Splice_Site	DEL	A	A	-													cacgtcacaaagagcggactAaaaaaagcaaaacacaaaac							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:128628935_128628935TA>T	uc002tpl.3	-	4	659	c.408_splice	c.e4-1	p.Y136_splice	AMMECR1L_uc002tpm.3_Splice_Site_p.Y136_splice	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	Homo sapiens AMME chromosomal region gene 1-like (AMMECR1L), transcript variant 1, mRNA.	136	AMMECR1.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		AAGAGCGGACTAAAAAAAGCA	0.438													-	128628936	A	-	128628936	8	5	45	1	0	1	0	1	0	0	1	0	579	377	13	0		0	AMMECR1L	2	128628936	Splice_Site	DEL	A	TCGA-BR-6852-01A-11D-1882-08	6882311	128628936	114570437	157	36513											
HS6ST1	9394	broad.mit.edu	37	chr2	129025949	129025949	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagctgcatgtccaggtcGttgagctcctcgatgcgccg	12	13	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:129025949G>A	uc002tpt.3	-	2	1057	c.1023C>T	c.(1021-1023)AAC>AAT	p.N341N		NM_004807	NP_004798	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	341	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			pancreas(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		TGTCCAGGTCGTTGAGCTCCT	0.622													A	129025949	G	A	129025949	2	1	45	1	0	0	0	0	0	0	0	1	7370	1136	40	1		1	HS6ST1	2	129025949	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	397013	129025949	114173424	158	36514											
ARHGEF4	50649	broad.mit.edu	37	chr2	131688588	131688588	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctcacagtcagaaggcgTtccacatggagcctgcccag	11	14	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:131688588T>C	uc002tsa.1	+	3	578	c.58T>C	c.(58-60)TTC>CTC	p.F20L	ARHGEF4_uc010fmw.1_Missense_Mutation_p.F666L|ARHGEF4_uc002tsb.1_Missense_Mutation_p.F20L|ARHGEF4_uc010fmx.1_Missense_Mutation_p.F20L|ARHGEF4_uc002trz.1_Missense_Mutation_p.F666L	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	20					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TCAGAAGGCGTTCCACATGGA	0.597													C	131688588	T	C	131688588	3	2	45	1	0	0	0	0	1	0	0	0	908	1725	60	3	60	3	ARHGEF4	2	131688588	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	2662639	131688588	111510785	159	36515											
ACMSD	130013	broad.mit.edu	37	chr2	135628620	135628620	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccaaactgaaagtgtgtttCgcacatggtggtaagaccct	10	10	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:135628620C>T	uc002ttz.2	+	7	733	c.666C>T	c.(664-666)TTC>TTT	p.F222F	ACMSD_uc002tua.2_Silent_p.F164F|uc010zbe.1_Intron	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	222					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.115)		AAGTGTGTTTCGCACATGGTG	0.279													T	135628620	C	T	135628620	2	4	45	1	0	0	0	0	0	0	0	1	144	883	31	1		1	ACMSD	2	135628620	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3940032	135628620	107570753	160	36516											
ACMSD	130013	broad.mit.edu	37	chr2	135630090	135630090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccatggattcagcatgcGcccagatctgtgtgcccagg	11	14	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:135630090G>A	uc002ttz.2	+	8	795	c.728G>A	c.(727-729)CGC>CAC	p.R243H	ACMSD_uc002tua.2_Missense_Mutation_p.R185H|uc010zbe.1_Intron	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	243					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.115)		TTCAGCATGCGCCCAGATCTG	0.493													A	135630090	G	A	135630090	3	1	45	1	0	0	0	0	1	0	0	0	144	1087	38	1	758	1	ACMSD	2	135630090	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1470	135630090	107569283	161	36517											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135848570	135848570	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttattggtacatatagggTatatttacttctggcacatg	8	5	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:135848570T>C	uc002tuj.2	+	4	178	c.153T>C	c.(151-153)GGT>GGC	p.G51G	RAB3GAP1_uc010fnf.2_Silent_p.G51G|RAB3GAP1_uc010fng.2_5'UTR|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	51						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)		ACATATAGGGTATATTTACTT	0.343													C	135848570	T	C	135848570	2	2	45	1	0	0	0	0	0	0	0	1	12935	1625	57	3		3	RAB3GAP1	2	135848570	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	218480	135848570	107350803	162	36518											
KYNU	8942	broad.mit.edu	37	chr2	143718341	143718341	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagctggacaagcgaaggTatgcacgccatttacttctt	9	9	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:143718341T>C	uc002tvl.2	+	8	859	c.729_splice	c.e8+2	p.K243_splice	KYNU_uc002tvk.2_Splice_Site_p.K243_splice|KYNU_uc010fnm.2_Splice_Site_p.K243_splice	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a						anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CAAGCGAAGGTATGCACGCCA	0.428													C	143718341	T	C	143718341	5	2	45	1	0	0	0	0	0	0	1	0	8587	1652	57	3	757	3	KYNU	2	143718341	Splice_Site	SNP	T	TCGA-BR-6852-01A-11D-1882-08	7869771	143718341	99481032	163	36519											
NEB	4703	broad.mit.edu	37	chr2	152374867	152374867	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcctcttttaggtgaaGctgctccagattatcgggta	12	8	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:152374867G>T	uc010fnx.2	-	128	17853	c.17662C>A	c.(17662-17664)CTT>ATT	p.L5888I	NEB_uc002txr.2_Missense_Mutation_p.L2311I|NEB_uc002txt.3_Missense_Mutation_p.L393I	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5888	Nebulin 161.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTAGGTGAAGCTGCTCCAGA	0.438													T	152374867	G	T	152374867	3	4	45	1	0	0	0	0	1	0	0	0	10302	971	34	5	2920	5	NEB	2	152374867	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	8656526	152374867	90824506	164	36520											
NEB	4703	broad.mit.edu	37	chr2	152427010	152427010	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagttaaaaaaggccactcaCgtcactggcaatctccctgg	8	12	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:152427010C>T	uc010fnx.2	-	80	12206	c.12015_splice	c.e80+1	p.D4005_splice	NEB_uc002txr.2_Splice_Site_p.D428_splice	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGCCACTCACGTCACTGGCA	0.517													T	152427010	C	T	152427010	5	4	45	1	0	0	0	0	0	0	1	0	10302	550	19	1	8867	1	NEB	2	152427010	Splice_Site	SNP	C	TCGA-BR-6852-01A-11D-1882-08	52143	152427010	90772363	165	36521											
RPRM	56475	broad.mit.edu	37	chr2	154334943	154334943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacaggctacgctcgtccGggcctccctccgcgaagccg	12	17	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:154334943G>A	uc002tyq.1	-	1	380	c.137C>T	c.(136-138)CCG>CTG	p.P46L		NM_019845	NP_062819	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependant G2 arrest mediator	46					cell cycle arrest	cytoplasm|integral to membrane	protein binding				0						ACGCTCGTCCGGGCCTCCCTC	0.657													A	154334943	G	A	154334943	3	1	45	1	0	0	0	0	1	0	0	0	13618	1116	39	1	196	1	RPRM	2	154334943	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1907933	154334943	88864430	166	36522											
KCNJ3	3760	broad.mit.edu	37	chr2	155555820	155555820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggacgccttcctcatcgGctgcatgttcatcaagatgt	10	12	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:155555820G>A	uc002tyv.1	+	1	728	c.533G>A	c.(532-534)GGC>GAC	p.G178D	KCNJ3_uc010zce.1_Missense_Mutation_p.G178D	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	178	Helical; Name=M2; (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	TTCCTCATCGGCTGCATGTTC	0.577													A	155555820	G	A	155555820	3	1	45	1	0	0	0	0	1	0	0	0	8052	1203	42	2	535	2	KCNJ3	2	155555820	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1220877	155555820	87643553	167	36523											
ITGB6	3694	broad.mit.edu	37	chr2	161029225	161029225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtggagggagtcattcCgccagccaattttttcctac	12	10	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:161029225C>T	uc002ubh.2	-	6	792	c.776G>A	c.(775-777)CGG>CAG	p.R259Q	ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Missense_Mutation_p.R259Q|ITGB6_uc010zcq.1_Missense_Mutation_p.R217Q|ITGB6_uc010fov.1_Missense_Mutation_p.R259Q	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6 precursor	259	Extracellular (Potential).|VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3						GGAGTCATTCCGCCAGCCAAT	0.448													T	161029225	C	T	161029225	3	4	45	1	0	0	0	0	1	0	0	0	7899	652	23	1	1630	1	ITGB6	2	161029225	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	5473405	161029225	82170148	168	36524											
SCN2A	6326	broad.mit.edu	37	chr2	166243339	166243339	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcctcatctgccttaacatGgtcaccatgatggtggaaac	8	11	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:166243339G>T	uc002udc.2	+	26	4925	c.4635G>T	c.(4633-4635)ATG>ATT	p.M1545I	SCN2A_uc002udd.2_Missense_Mutation_p.M1545I|SCN2A_uc002ude.2_Missense_Mutation_p.M1545I	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1545	IV.|Helical; Name=S1 of repeat IV; (Potential).				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	GCCTTAACATGGTCACCATGA	0.378													T	166243339	G	T	166243339	3	4	45	1	0	0	0	0	1	0	0	0	13916	1348	47	5	4829	5	SCN2A	2	166243339	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	5214114	166243339	76956034	169	36525											
WIPF1	7456	broad.mit.edu	37	chr2	175436475	175436475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaggaagaggacctgaaCgtcctggcgaaggtaacggg	19	7	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:175436475C>T	uc002uiy.2	-	6	1390	c.1058G>A	c.(1057-1059)CGT>CAT	p.R353H	uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.R353H|WIPF1_uc010fqt.1_Missense_Mutation_p.R353H|WIPF1_uc002ujc.1_Missense_Mutation_p.R353H|WIPF1_uc002uiz.2_Missense_Mutation_p.R353H|WIPF1_uc002ujb.1_Missense_Mutation_p.R353H|WIPF1_uc010zep.1_Missense_Mutation_p.R353H	NM_003387	NP_003378	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	353	XRSGPXPPXP motif 1.|Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)|skin(1)	2						AGGACCTGAACGTCCTGGCGA	0.617													T	175436475	C	T	175436475	3	4	45	1	0	0	0	0	1	0	0	0	17364	536	19	1	469	1	WIPF1	2	175436475	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	9193136	175436475	67762898	170	36526											
CHN1	1123	broad.mit.edu	37	chr2	175666460	175666460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatgtgccatgaggtaccGgagggtttcgcagtgagcag	16	7	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:175666460G>A	uc002uji.2	-	12	1713	c.1183C>T	c.(1183-1185)CGG>TGG	p.R395W	CHN1_uc010zeq.1_Missense_Mutation_p.R369W|CHN1_uc002ujj.2_Missense_Mutation_p.R170W|CHN1_uc002ujg.2_Missense_Mutation_p.R270W	NM_001822	NP_001813	P15882	CHIN_HUMAN	chimerin (chimaerin) 1 isoform a	395	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.R395Q(1)		ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.226)			ATGAGGTACCGGAGGGTTTCG	0.413			T	TAF15	extraskeletal myxoid chondrosarcoma								A	175666460	G	A	175666460	3	1	45	1	0	0	0	0	1	0	0	0	3362	1115	39	1	204	1	CHN1	2	175666460	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	229985	175666460	67532913	171	36527											
CHN1	1123	broad.mit.edu	37	chr2	175677082	175677082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtctaccaccattggccGcttagtggtatgtgctttca	9	11	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:175677082G>A	uc002uji.2	-	9	1371	c.841C>T	c.(841-843)CGG>TGG	p.R281W	CHN1_uc010zeq.1_Missense_Mutation_p.R255W|CHN1_uc002ujj.2_Missense_Mutation_p.R56W|CHN1_uc002ujg.2_Missense_Mutation_p.R156W	NM_001822	NP_001813	P15882	CHIN_HUMAN	chimerin (chimaerin) 1 isoform a	281	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.226)			ACCATTGGCCGCTTAGTGGTA	0.498			T	TAF15	extraskeletal myxoid chondrosarcoma								A	175677082	G	A	175677082	3	1	45	1	0	0	0	0	1	0	0	0	3362	1086	38	1	558	1	CHN1	2	175677082	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	10622	175677082	67522291	172	36528											
HOXD8	3234	broad.mit.edu	37	chr2	176995458	176995458	+	Frame_Shift_Del	DEL	C	C	-													ctccgcctccgccgccacctCccccctgcggcgggattgcc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:176995457_176995457TC>T	uc002uko.3	+	0	990	c.363_363TC>T	c.(361-363)cctfs	p.P121fs	AX747372_uc002ukl.1_5'Flank|AX747372_uc002ukm.1_5'Flank|HOXD8_uc002ukn.3_Intron|HOXD8_uc002ukp.3_Frame_Shift_Del_p.P121fs	NM_019558	NP_062458	P13378	HXD8_HUMAN	Homo sapiens homeobox D8 (HOXD8), transcript variant 1, mRNA.	121	Poly-Pro.				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		cgccgccacctcccccCTGCG	0.692													-	176995458	C	-	176995458	7	5	45	1	0	1	0	1	0	0	0	0	7325	855	30	0	366	0	HOXD8	2	176995458	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	1318376	176995458	66203915	173	36529											
HOXD1	3231	broad.mit.edu	37	chr2	177054043	177054043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgtctcaaagcgtcagccGacggccaccctggtgctttc	10	15	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:177054043G>A	uc002ukv.3	+	1	737	c.514G>A	c.(514-516)GAC>AAC	p.D172N	HOXD1_uc010fqy.2_Missense_Mutation_p.D172N|HOXD1_uc010zez.1_Missense_Mutation_p.D172N	NM_024501	NP_078777	Q9GZZ0	HXD1_HUMAN	homeobox D1	172						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		AGCGTCAGCCGACGGCCACCC	0.682													A	177054043	G	A	177054043	3	1	45	1	0	0	0	0	1	0	0	0	7318	1058	37	1	516	1	HOXD1	2	177054043	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	58585	177054043	66145330	174	36530											
PLEKHA3	65977	broad.mit.edu	37	chr2	179350390	179350390	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcagcctcgttggtttgtTttagataatggaatcttatc	10	6	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:179350390T>G	uc002umn.2	+	2	461	c.63T>G	c.(61-63)GTT>GTG	p.V21V		NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A	21	PH.					cytoplasm|membrane				ovary(1)|kidney(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			GTTGGTTTGTTTTAGATAATG	0.353													G	179350390	T	G	179350390	2	3	45	1	0	0	0	0	0	0	0	1	12057	1828	64	5		5	PLEKHA3	2	179350390	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	2296347	179350390	63848983	175	36531											
TTN	7273	broad.mit.edu	37	chr2	179479312	179479312	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtggatttcttagggAcattttcaatggtaattctt	8	6	4	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:179479312A>T	uc010zfg.1	-	210	41449	c.41225T>A	c.(41224-41226)GTC>GAC	p.V13742D	uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.V7437D|TTN_uc010zfi.1_Missense_Mutation_p.V7370D|TTN_uc010zfj.1_Missense_Mutation_p.V7245D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14669							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTTAGGGACATTTTCAAT	0.433													T	179479312	A	T	179479312	3	4	45	1	0	0	0	0	1	0	0	0	16732	275	10	5	59172	5	TTN	2	179479312	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	128922	179479312	63720061	176	36532											
TTN	7273	broad.mit.edu	37	chr2	179501146	179501146	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctacaacaagtttagccgTggaggtcttttctttgtttc	8	8	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:179501146T>C	uc010zfg.1	-	174	33828	c.33604A>G	c.(33604-33606)ACG>GCG	p.T11202A	TTN_uc010zfh.1_Missense_Mutation_p.T4897A|TTN_uc010zfi.1_Missense_Mutation_p.T4830A|TTN_uc010zfj.1_Missense_Mutation_p.T4705A|TTN_uc010fre.1_Missense_Mutation_p.T1063A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12129							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTTAGCCGTGGAGGTCTTT	0.353													C	179501146	T	C	179501146	3	2	45	1	0	0	0	0	1	0	0	0	16732	1696	59	3	66937	3	TTN	2	179501146	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	21834	179501146	63698227	177	36533											
TTN	7273	broad.mit.edu	37	chr2	179594876	179594876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacatcattgcttagttggCaaatgtaggttccagaatcg	9	8	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:179594876C>T	uc010zfg.1	-	59	14743	c.14519G>A	c.(14518-14520)TGC>TAC	p.C4840Y	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.C1501Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5767							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTAGTTGGCAAATGTAGGT	0.468													T	179594876	C	T	179594876	3	4	45	1	0	0	0	0	1	0	0	0	16732	710	25	2	86482	2	TTN	2	179594876	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	93730	179594876	63604497	178	36534											
TTN	7273	broad.mit.edu	37	chr2	179605699	179605699	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taagatagttgctggttttcTtctgtaattaaagcagcttt	8	5	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:179605699T>G	uc010zfh.1	-	46	11972	c.11748A>C	c.(11746-11748)GAA>GAC	p.E3916D	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E3849D|TTN_uc010zfj.1_Missense_Mutation_p.E3724D|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	3853							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGGTTTTCTTCTGTAATTA	0.418													G	179605699	T	G	179605699	3	3	45	1	0	0	0	0	1	0	0	0	16732	1606	56	5	92528	5	TTN	2	179605699	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	10823	179605699	63593674	179	36535											
TTN	7273	broad.mit.edu	37	chr2	179641123	179641123	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaagtgcaccttcatgaGccattctctctaattcttca	5	12	5	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:179641123G>T	uc010zfg.1	-	28	5692	c.5468C>A	c.(5467-5469)GCT>GAT	p.A1823D	TTN_uc010zfh.1_Missense_Mutation_p.A1777D|TTN_uc010zfi.1_Missense_Mutation_p.A1777D|TTN_uc010zfj.1_Missense_Mutation_p.A1777D|TTN_uc002unb.2_Missense_Mutation_p.A1823D|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1823							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTCATGAGCCATTCTCTC	0.428													T	179641123	G	T	179641123	3	4	45	1	0	0	0	0	1	0	0	0	16732	971	34	5	105860	5	TTN	2	179641123	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	35424	179641123	63558250	180	36536											
COL5A2	1290	broad.mit.edu	37	chr2	189929324	189929324	+	Frame_Shift_Del	DEL	C	C	-													ttcccctggacgtcctggatCcccctggcttcctttgggtc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:189929323_189929323TC>T	uc002uqk.3	-	24	1951	c.1676_1676GA>A	c.(1675-1677)gatfs	p.D559fs	COL5A2_uc010frx.3_Frame_Shift_Del_p.D135fs	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	559					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACGTCCTGGATCCCCCTGGCT	0.527													-	189929324	C	-	189929324	7	5	45	1	0	1	0	1	0	0	0	0	3697	855	30	0	2944	0	COL5A2	2	189929324	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	10288201	189929324	53270049	181	36537											
STAT1	6772	broad.mit.edu	37	chr2	191874714	191874714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagtcaagctgctgaagttCgtaccactgagacatcctat	9	10	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:191874714C>T	uc002usj.2	-	3	404	c.16G>A	c.(16-18)GAA>AAA	p.E6K	STAT1_uc010fse.1_Missense_Mutation_p.E6K|STAT1_uc002usk.2_Missense_Mutation_p.E6K|STAT1_uc002usl.2_Missense_Mutation_p.E8K|STAT1_uc010fsf.1_5'UTR	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	6					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TGCTGAAGTTCGTACCACTGA	0.418													T	191874714	C	T	191874714	3	4	45	1	0	0	0	0	1	0	0	0	15263	893	31	1	2332	1	STAT1	2	191874714	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1945390	191874714	51324659	182	36538											
DNAH7	56171	broad.mit.edu	37	chr2	196749503	196749503	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctgtacaagaagcaccaaCggaccagatcaatgaaaaca	7	10	2	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:196749503C>A	uc002utj.3	-	35	5670	c.5569G>T	c.(5569-5571)GTT>TTT	p.V1857F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1857					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						GAAGCACCAACGGACCAGATC	0.333													A	196749503	C	A	196749503	3	1	45	1	0	0	0	0	1	0	0	0	4606	536	19	5	6629	5	DNAH7	2	196749503	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	4874789	196749503	46449870	183	36539											
ANKRD44	91526	broad.mit.edu	37	chr2	197986170	197986170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattgtttggctggttcacGttagcaccgtagtcaatcaa	9	8	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:197986170G>A	uc002uuc.2	-	8	959	c.792C>T	c.(790-792)AAC>AAT	p.N264N	ANKRD44_uc002utz.3_Translation_Start_Site|ANKRD44_uc002uua.1_Silent_p.N239N|ANKRD44_uc002uub.2_Silent_p.N264N|ANKRD44_uc010zgw.1_Silent_p.N192N	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	264	ANK 8.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCTGGTTCACGTTAGCACCGT	0.453													A	197986170	G	A	197986170	2	1	45	1	0	0	0	0	0	0	0	1	672	1136	40	1		1	ANKRD44	2	197986170	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1236667	197986170	45213203	184	36540											
SF3B1	23451	broad.mit.edu	37	chr2	198265663	198265664	+	Splice_Site	INS	-	-	A													acagtagtatcaactaactaINSaaaagaacagaaaaacaaaa							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:198265662_198265663T>TA	uc002uue.3	-	18	2545	c.2497_splice	c.e18-1	p.L833_splice	SNORD2_uc021vul.1_5'Flank	NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	833					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATCAACTAACTAAAAAGAACAG	0.337			Mis		myelodysplastic syndrome								A	198265664	-	A	198265663	8	5	45	1	0	1	1	0	0	0	1	0	14149	377	13	0		0	SF3B1	2	198265663	Splice_Site	INS	-	TCGA-BR-6852-01A-11D-1882-08	279493	198265663	44933710	185	36541											
AOX1	316	broad.mit.edu	37	chr2	201477345	201477345	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttcagtgggaatttgtgtCagccttccgacaagcccagc	10	12	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:201477345C>T	uc002uvx.2	+	14	1378	c.1277C>T	c.(1276-1278)TCA>TTA	p.S426L	AOX1_uc010zhf.1_5'UTR|AOX1_uc010fsu.2_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	426					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GAATTTGTGTCAGCCTTCCGA	0.458													T	201477345	C	T	201477345	3	4	45	1	0	0	0	0	1	0	0	0	729	838	29	4	1331	4	AOX1	2	201477345	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3211682	201477345	41722028	186	36542											
AOX1	316	broad.mit.edu	37	chr2	201501758	201501758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagccgtcactgcatttgCcgcaaacaagtaagtggaga	11	10	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:201501758C>T	uc002uvx.2	+	22	2572	c.2471C>T	c.(2470-2472)GCC>GTC	p.A824V	AOX1_uc010zhf.1_Missense_Mutation_p.A380V|AOX1_uc010fsu.2_Missense_Mutation_p.A190V	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	824					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ACTGCATTTGCCGCAAACAAG	0.453													T	201501758	C	T	201501758	3	4	45	1	0	0	0	0	1	0	0	0	729	739	26	2	2557	2	AOX1	2	201501758	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	24413	201501758	41697615	187	36543											
CFLAR	8837	broad.mit.edu	37	chr2	202005128	202005129	+	Frame_Shift_Ins	INS	-	-	A													gttctccaagcagcaatccaINSaaagagtctcaaggatcctt							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:202005127_202005128C>CA	uc002uxb.4	+	4	1036_1037	c.571_572C>CA	c.(571-573)caafs	p.Q191fs	CFLAR_uc002uwz.3_Frame_Shift_Ins_p.Q191fs|CFLAR_uc010zhk.2_Frame_Shift_Ins_p.Q95fs|CFLAR_uc010zhl.2_Frame_Shift_Ins_p.Q95fs|CFLAR_uc002uxc.4_Frame_Shift_Ins_p.Q191fs|CFLAR_uc010fsw.2_Non-coding_Transcript|CFLAR_uc002uxd.4_Frame_Shift_Ins_p.Q191fs|CFLAR_uc002uxe.2_Frame_Shift_Ins_p.Q191fs|CFLAR_uc021vuw.1_Frame_Shift_Ins_p.Q191fs|CFLAR_uc010fsx.3_Frame_Shift_Ins_p.Q191fs|CFLAR_uc010fsy.3_Non-coding_Transcript|CFLAR_uc002uxf.3_Frame_Shift_Ins_p.Q191fs|CFLAR_uc010zhm.2_Frame_Shift_Ins_p.Q95fs|CFLAR_uc010fsz.3_5'UTR|DQ582762_uc021vux.1_5'Flank|CFLAR_uc002uxg.3_5'UTR|CFLAR-AS1_uc002uxh.1_Non-coding_Transcript	NM_003879	NP_001189446	O15519	CFLAR_HUMAN	Homo sapiens CASP8 and FADD-like apoptosis regulator (CFLAR), transcript variant 1, mRNA.	191	Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						AGCAGCAATCCAAAAGAGTCTC	0.376													A	202005129	-	A	202005128	7	5	45	1	0	1	1	0	0	0	0	0	3292	130	5	0	586	0	CFLAR	2	202005128	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	503370	202005128	41194245	188	36544											
CASP8	841	broad.mit.edu	37	chr2	202136270	202136270	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagatttcagaagaagtgAgcagatcagaattgaggtct	11	5	4	7			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:202136270A>C	uc002uxr.1	+	4	546	c.337A>C	c.(337-339)AGC>CGC	p.S113R	CASP8_uc010ftc.1_Missense_Mutation_p.S113R|CASP8_uc002uxo.1_Missense_Mutation_p.S113R|CASP8_uc002uxp.1_Missense_Mutation_p.S145R|CASP8_uc002uxq.1_Missense_Mutation_p.S113R|CASP8_uc002uxs.1_Missense_Mutation_p.S113R|CASP8_uc002uxt.1_Missense_Mutation_p.S172R|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Missense_Mutation_p.S10R|CASP8_uc002uxv.1_Missense_Mutation_p.S113R|CASP8_uc002uxw.1_Missense_Mutation_p.S113R|CASP8_uc002uxy.1_Missense_Mutation_p.S113R|CASP8_uc002uxx.1_Missense_Mutation_p.S113R|CASP8_uc010ftf.2_Missense_Mutation_p.S113R|CASP8_uc010fte.1_Missense_Mutation_p.S10R	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	113	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						AGAAGAAGTGAGCAGATCAGA	0.378										HNSCC(4;0.00038)			C	202136270	A	C	202136270	3	2	45	1	0	0	0	0	1	0	0	0	2677	304	11	5	624	5	CASP8	2	202136270	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	131142	202136270	41063103	189	36545											
ALS2CR11	151254	broad.mit.edu	37	chr2	202483778	202483778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgcaatagcggggtggCggacaggacttggacctgcc	15	12	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:202483778C>T	uc002uye.2	-	1	124	c.76G>A	c.(76-78)GCC>ACC	p.A26T	ALS2CR11_uc002uyf.2_Missense_Mutation_p.A26T|ALS2CR11_uc010fti.2_Missense_Mutation_p.A26T	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	26										large_intestine(1)|ovary(1)|skin(1)	3						AGCGGGGTGGCGGACAGGACT	0.577													T	202483778	C	T	202483778	3	4	45	1	0	0	0	0	1	0	0	0	552	768	27	1	5597	1	ALS2CR11	2	202483778	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	347508	202483778	40715595	190	36546											
BMPR2	659	broad.mit.edu	37	chr2	203329571	203329571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctatgtgcgtttaaagatcCgtatcagcaagaccttggga	11	8	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:203329571C>T	uc002uzf.3	+	2	1264	c.116C>T	c.(115-117)CCG>CTG	p.P39L	BMPR2_uc010ftr.2_Missense_Mutation_p.P39L|BMPR2_uc002uze.2_Missense_Mutation_p.P39L	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	39	Extracellular (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						TTTAAAGATCCGTATCAGCAA	0.343													T	203329571	C	T	203329571	3	4	45	1	0	0	0	0	1	0	0	0	1471	652	23	1	122	1	BMPR2	2	203329571	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	845793	203329571	39869802	191	36547											
RAPH1	65059	broad.mit.edu	37	chr2	204354393	204354393	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaagagtccatgctggaggCtgcggaagtgatgctggaat	15	7	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:204354393C>A	uc002vad.2	-	4	871	c.646G>T	c.(646-648)GCC>TCC	p.A216S	RAPH1_uc002vae.2_Missense_Mutation_p.A216S|RAPH1_uc002vaf.2_Missense_Mutation_p.A216S	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	216					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						ATGCTGGAGGCTGCGGAAGTG	0.453													A	204354393	C	A	204354393	3	1	45	1	0	0	0	0	1	0	0	0	13050	797	28	5	3321	5	RAPH1	2	204354393	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1024822	204354393	38844980	192	36548											
INO80D	54891	broad.mit.edu	37	chr2	206874386	206874387	+	Frame_Shift_Ins	INS	-	-	G													gcaggtggaatgggtttttgINSgggtcgacgaggtccacgcc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:206874385_206874386T>TG	uc002vaz.4	-	8	2080_2081	c.1675_1676A>CA	c.(1675-1677)caafs	p.Q559fs		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	559					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						AATGGGTTTTTGGGGTCGACGA	0.564													G	206874387	-	G	206874386	7	5	45	1	0	1	1	0	0	0	0	0	7749	1357	47	0	1420	0	INO80D	2	206874386	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	2519993	206874386	36324987	193	36549											
ZDBF2	57683	broad.mit.edu	37	chr2	207172264	207172264	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaaacaagtttagattcTggtgtccctcattattcagt	6	8	4	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:207172264T>C	uc002vbp.2	+	5	3262	c.3012T>C	c.(3010-3012)TCT>TCC	p.S1004S		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1004							nucleic acid binding|zinc ion binding			ovary(3)	3						GTTTAGATTCTGGTGTCCCTC	0.343													C	207172264	T	C	207172264	2	2	45	1	0	0	0	0	0	0	0	1	17596	1567	55	3		3	ZDBF2	2	207172264	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	297878	207172264	36027109	194	36550											
MAP2	4133	broad.mit.edu	37	chr2	210561667	210561668	+	Frame_Shift_Ins	INS	-	-	A													taagaaggctgaacttgctaINSaaaaaacagaagttcaggcc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:210561666_210561667T>TA	uc002vde.1	+	8	4661_4662	c.4413_4414T>TA	c.(4411-4416)gctaaafs	p.A1471fs	MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Frame_Shift_Ins_p.A1467fs	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1471					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.T1474fs*14(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CTGAACTTGCTAAAAAAACAGA	0.366													A	210561668	-	A	210561667	7	5	45	1	0	1	1	0	0	0	0	0	9235	363	13	0	4436	0	MAP2	2	210561667	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	3389403	210561667	32637706	195	36551											
ABCA12	26154	broad.mit.edu	37	chr2	215884381	215884381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcggtgcccagctctgccGcttcgaggagttgcagatca	12	12	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:215884381G>A	uc002vew.2	-	12	1647	c.1427C>T	c.(1426-1428)GCG>GTG	p.A476V	ABCA12_uc002vev.2_Missense_Mutation_p.A158V|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	476			A -> V (in a pancreatic ductal adenocarcinoma sample; somatic mutation).		cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.A476V(1)		ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAGCTCTGCCGCTTCGAGGAG	0.443													A	215884381	G	A	215884381	3	1	45	1	0	0	0	0	1	0	0	0	30	1087	38	1	6528	1	ABCA12	2	215884381	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	5322714	215884381	27314992	196	36552											
BCS1L	617	broad.mit.edu	37	chr2	219527931	219527931	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctactgctcacactggcagcTgacccagatgttccagaggt	10	13	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:219527931T>C	uc002vio.2	+	8	1500	c.1082T>C	c.(1081-1083)CTG>CCG	p.L361P	BCS1L_uc002vip.2_Missense_Mutation_p.L361P|BCS1L_uc002viq.2_Missense_Mutation_p.L361P|BCS1L_uc010fvu.2_Missense_Mutation_p.L361P|BCS1L_uc010fvv.2_Missense_Mutation_p.L361P|BCS1L_uc002vir.2_Missense_Mutation_p.L361P|BCS1L_uc002vis.2_Missense_Mutation_p.L361P	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN	BCS1-like	361	Mitochondrial matrix (Potential).				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding				0		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACTGGCAGCTGACCCAGATG	0.572													C	219527931	T	C	219527931	3	2	45	1	0	0	0	0	1	0	0	0	1389	1580	55	3	1108	3	BCS1L	2	219527931	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	3643550	219527931	23671442	197	36553											
CDK5R2	8941	broad.mit.edu	37	chr2	219825256	219825256	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgcctgcaaacctggtgttCgtgtacctgctgtgccgcga	12	13	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:219825256C>T	uc002vjf.2	+	1	859	c.714C>T	c.(712-714)TTC>TTT	p.F238F		NM_003936	NP_003927	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2	238					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTGGTGTTCGTGTACCTGC	0.687													T	219825256	C	T	219825256	2	4	45	1	0	0	0	0	0	0	0	1	3144	883	31	1		1	CDK5R2	2	219825256	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	297325	219825256	23374117	198	36554											
SPEG	10290	broad.mit.edu	37	chr2	220348470	220348470	+	Frame_Shift_Del	DEL	G	G	-													ggtcccctgctggagagcctGgggggccgtgctcgggaccc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:220348470delG	uc010fwg.2	+	30	6285	c.6285delG	c.(6283-6285)CTGfs	p.L2095fs		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2095					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGGAGAGCCTGGGGGGCCGTG	0.726													-	220348470	G	-	220348470	7	5	45	1	0	1	0	1	0	0	0	0	15035	1335	47	0	6415	0	SPEG	2	220348470	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	523214	220348470	22850903	199	36555											
CHPF	79586	broad.mit.edu	37	chr2	220404687	220404687	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgcacactgagccatggCacccgggcaccggggaaacg	14	14	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:220404687C>T	uc002vmc.3	-	4	1973	c.1746G>A	c.(1744-1746)GTG>GTA	p.V582V	CHPF_uc010zlh.1_Silent_p.V420V	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	582	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding				0		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGAGCCATGGCACCCGGGCAC	0.667													T	220404687	C	T	220404687	2	4	45	1	0	0	0	0	0	0	0	1	3368	697	25	2		2	CHPF	2	220404687	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	56217	220404687	22794686	200	36556											
SLC4A3	6508	broad.mit.edu	37	chr2	220504282	220504282	+	Frame_Shift_Del	DEL	G	G	-													ctgctcctcattggctccctGggggggctctgtgggctgtt							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:220504281_220504281TG>T	uc002vmo.4	+	19	3391	c.3182_3182TG>T	c.(3181-3183)ctgfs	p.L1061fs	SLC4A3_uc002vmp.4_Frame_Shift_Del_p.L1034fs|SLC4A3_uc010fwm.3_Frame_Shift_Del_p.L584fs	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	1034	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATTGGCTCCCTGGGGGGGCTC	0.642													-	220504282	G	-	220504282	7	5	45	1	0	1	0	1	0	0	0	0	14655	1335	47	0	3257	0	SLC4A3	2	220504282	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	99595	220504282	22695091	201	36557											
KIAA1486	57624	broad.mit.edu	37	chr2	226446717	226446717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagattcctcctcccaaacCgaagcgaaatccgaacactc	6	15	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:226446717C>T	uc002voe.2	+	4	759	c.584C>T	c.(583-585)CCG>CTG	p.P195L	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_5'UTR	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	195										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		CCTCCCAAACCGAAGCGAAAT	0.483													T	226446717	C	T	226446717	3	4	45	1	0	0	0	0	1	0	0	0	8237	652	23	1	594	1	KIAA1486	2	226446717	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	5942435	226446717	16752656	202	36558											
IRS1	3667	broad.mit.edu	37	chr2	227663080	227663080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacctcccgccccgagggcCgcagctccgtcgtggtggcc	13	20	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:227663080C>T	uc002voh.3	-	1	427	c.375G>A	c.(373-375)GCG>GCA	p.A125A		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	125	Mediates interaction with PHIP (By similarity).				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CCCCGAGGGCCGCAGCTCCGT	0.692											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	227663080	C	T	227663080	2	4	45	1	0	0	0	0	0	0	0	1	7840	639	23	1		1	IRS1	2	227663080	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1216363	227663080	15536293	203	36559											
COL4A4	1286	broad.mit.edu	37	chr2	227919390	227919390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccctttgcgccaggacatCcctctgcaccaggctttcct	7	18	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:227919390C>T	uc010zlt.1	-	31	3434	c.2780G>A	c.(2779-2781)GGA>GAA	p.G927E		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	927	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCCAGGACATCCCTCTGCACC	0.532													T	227919390	C	T	227919390	3	4	45	1	0	0	0	0	1	0	0	0	3693	855	30	4	2364	4	COL4A4	2	227919390	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	256310	227919390	15279983	204	36560											
TRIP12	9320	broad.mit.edu	37	chr2	230650558	230650558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgtttcagcagctcctctCggttcacagtacgctacaaa	7	14	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:230650558C>T	uc002vpw.1	-	33	4893	c.4784G>A	c.(4783-4785)CGA>CAA	p.R1595Q	TRIP12_uc002vpx.1_Missense_Mutation_p.R1643Q|TRIP12_uc002vpy.1_Missense_Mutation_p.R1325Q	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1595					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CAGCTCCTCTCGGTTCACAGT	0.453													T	230650558	C	T	230650558	3	4	45	1	0	0	0	0	1	0	0	0	16553	884	31	1	1230	1	TRIP12	2	230650558	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2731168	230650558	12548815	205	36561											
SP110	3431	broad.mit.edu	37	chr2	231042289	231042289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagggtcattccttcacaacGtatattccgtttccagttct	6	11	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:231042289G>A	uc002vqh.3	-	14	1795	c.1555C>T	c.(1555-1557)CGT>TGT	p.R519C	SP110_uc002vqg.3_Missense_Mutation_p.R519C|SP110_uc002vqi.3_Missense_Mutation_p.R519C|SP110_uc010fxk.2_Missense_Mutation_p.R517C|SP110_uc010fxj.2_Missense_Mutation_p.R162C	NM_004509	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform a	519	SAND.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CCTTCACAACGTATATTCCGT	0.423													A	231042289	G	A	231042289	3	1	45	1	0	0	0	0	1	0	0	0	14961	1145	40	1	674	1	SP110	2	231042289	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	391731	231042289	12157084	206	36562											
SP140	11262	broad.mit.edu	37	chr2	231134619	231134619	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttctcagaagaggtgccAggaagcccagaagcaaggac	13	9	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:231134619A>G	uc002vql.2	+	14	1510	c.1395A>G	c.(1393-1395)CCA>CCG	p.P465P	SP140_uc010zma.1_RNA|SP140_uc002vqn.2_Silent_p.P351P|SP140_uc002vqm.2_Silent_p.P405P|SP140_uc010fxl.2_Silent_p.P438P	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	465					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAGAGGTGCCAGGAAGCCCAG	0.527													G	231134619	A	G	231134619	2	3	45	1	0	0	0	0	0	0	0	1	14962	175	7	3		3	SP140	2	231134619	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	92330	231134619	12064754	207	36563											
CHRND	1144	broad.mit.edu	37	chr2	233398812	233398812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcgagaagcagtcagagCggcatgggctggccaggcgc	17	10	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:233398812C>T	uc002vsw.2	+	10	1223	c.1219C>T	c.(1219-1221)CGG>TGG	p.R407W	CHRND_uc010zmg.1_Missense_Mutation_p.R392W|CHRND_uc010fyc.2_Missense_Mutation_p.R280W|CHRND_uc010zmh.1_Missense_Mutation_p.R213W	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	407	Cytoplasmic (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)|skin(1)	3		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GCAGTCAGAGCGGCATGGGCT	0.637													T	233398812	C	T	233398812	3	4	45	1	0	0	0	0	1	0	0	0	3394	759	27	1	1257	1	CHRND	2	233398812	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2264193	233398812	9800561	208	36564											
GIGYF2	26058	broad.mit.edu	37	chr2	233684582	233684582	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaagaaattgcattaaggCgacagcgagaagaggaagaa	13	5	0	4	rs13002284		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:233684582C>T	uc002vti.3	+	23	2753	c.2416C>T	c.(2416-2418)CGA>TGA	p.R806*	GIGYF2_uc002vtg.2_Nonsense_Mutation_p.R800*|GIGYF2_uc002vtj.3_Nonsense_Mutation_p.R827*|GIGYF2_uc002vtk.3_Nonsense_Mutation_p.R806*|GIGYF2_uc002vth.3_Nonsense_Mutation_p.R800*|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Nonsense_Mutation_p.R637*|GIGYF2_uc002vtq.3_Nonsense_Mutation_p.R139*	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	806	Gln-rich.|Glu-rich.				cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TGCATTAAGGCGACAGCGAGA	0.512													T	233684582	C	T	233684582	4	4	45	1	0	0	0	0	0	1	0	0	6378	760	27	1	2560	1	GIGYF2	2	233684582	Nonsense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	285770	233684582	9514791	209	36565											
COL6A3	1293	broad.mit.edu	37	chr2	238285718	238285718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaaaatgtacctctgtgCatagtccagcgcgtagccca	8	13	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:238285718C>T	uc002vwl.2	-	7	3052	c.2767G>A	c.(2767-2769)GCA>ACA	p.A923T	COL6A3_uc002vwo.2_Missense_Mutation_p.A717T|COL6A3_uc010znj.1_Missense_Mutation_p.A316T|COL6A3_uc002vwq.2_Missense_Mutation_p.A717T|COL6A3_uc002vwr.2_Missense_Mutation_p.A516T|COL6A3_uc010znk.1_Missense_Mutation_p.A723T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	923	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TACCTCTGTGCATAGTCCAGC	0.522													T	238285718	C	T	238285718	3	4	45	1	0	0	0	0	1	0	0	0	3701	710	25	2	6965	2	COL6A3	2	238285718	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	4601136	238285718	4913655	210	36566											
COL6A3	1293	broad.mit.edu	37	chr2	238287277	238287277	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccggcaacaggggaggtttAcctggctgagcgagtggtac	16	10	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:238287277A>G	uc002vwl.2	-	6	2782	c.2497_splice	c.e6+1	p.E833_splice	COL6A3_uc002vwo.2_Splice_Site_p.E627_splice|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Splice_Site_p.E627_splice|COL6A3_uc002vwr.2_Splice_Site_p.E426_splice|COL6A3_uc010znk.1_Intron	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor						axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGGGAGGTTTACCTGGCTGAG	0.542													G	238287277	A	G	238287277	5	3	45	1	0	0	0	0	0	0	1	0	3701	405	14	3	7237	3	COL6A3	2	238287277	Splice_Site	SNP	A	TCGA-BR-6852-01A-11D-1882-08	1559	238287277	4912096	211	36567											
TRAF3IP1	26146	broad.mit.edu	37	chr2	239306240	239306240	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggactacatccaggaagaCgtggatgccatgcagaatga	12	8	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:239306240C>T	uc002vye.2	+	16	1949	c.1830C>T	c.(1828-1830)GAC>GAT	p.D610D	TRAF3IP1_uc002vyf.2_Silent_p.D544D	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting	610	Potential.|DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			ovary(1)	1		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		TCCAGGAAGACGTGGATGCCA	0.582													T	239306240	C	T	239306240	2	4	45	1	0	0	0	0	0	0	0	1	16437	535	19	1		1	TRAF3IP1	2	239306240	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1018963	239306240	3893133	212	36568											
PASK	23178	broad.mit.edu	37	chr2	242076594	242076594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccggtggtcgcctcctcgCtgctgggttgggatttcagc	14	13	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:242076594C>T	uc002wao.1	-	7	1054	c.962G>A	c.(961-963)AGC>AAC	p.S321N	PASK_uc010zol.1_Missense_Mutation_p.S135N|PASK_uc010zom.1_Missense_Mutation_p.S286N|PASK_uc010fzl.1_Missense_Mutation_p.S321N|PASK_uc010zon.1_Missense_Mutation_p.S102N|PASK_uc002wap.2_5'Flank|PASK_uc002waq.2_Missense_Mutation_p.S321N	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	321					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CGCCTCCTCGCTGCTGGGTTG	0.582													T	242076594	C	T	242076594	3	4	45	1	0	0	0	0	1	0	0	0	11472	797	28	2	3057	2	PASK	2	242076594	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2770354	242076594	1122779	213	36569											
ANO7	50636	broad.mit.edu	37	chr2	242163549	242163549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccttcacggttcccaaggCcagccagctgcagcagtgac	10	16	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:242163549C>T	uc002wax.2	+	25	2886	c.2783C>T	c.(2782-2784)GCC>GTC	p.A928V		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	928	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						GTTCCCAAGGCCAGCCAGCTG	0.642													T	242163549	C	T	242163549	3	4	45	1	0	0	0	0	1	0	0	0	702	739	26	2	2953	2	ANO7	2	242163549	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	86955	242163549	1035824	214	36570											
HDLBP	3069	broad.mit.edu	37	chr2	242170236	242170236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaatgatgcgggcgtgaaCgcggtggtccagcgggacgt	17	10	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:242170236C>T	uc002waz.2	-	25	3640	c.3412G>A	c.(3412-3414)GTT>ATT	p.V1138I	HDLBP_uc002wba.2_Missense_Mutation_p.V1138I|HDLBP_uc002wbb.2_Missense_Mutation_p.V1090I	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1138	KH 14.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CGGGCGTGAACGCGGTGGTCC	0.547													T	242170236	C	T	242170236	3	4	45	1	0	0	0	0	1	0	0	0	7025	536	19	1	410	1	HDLBP	2	242170236	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	6687	242170236	1029137	215	36571											
FARP2	9855	broad.mit.edu	37	chr2	242432348	242432348	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcctttattgacagaaccAgctttcaggatatctgctaa	6	9	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:242432348A>G	uc002wbi.1	+	25	2909	c.2792A>G	c.(2791-2793)CAG>CGG	p.Q931R		NM_014808	NP_055623	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	931	PH 2.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TGACAGAACCAGCTTTCAGGA	0.458													G	242432348	A	G	242432348	3	3	45	1	0	0	0	0	1	0	0	0	5677	188	7	3	2886	3	FARP2	2	242432348	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	262112	242432348	767025	216	36572											
STK25	10494	broad.mit.edu	37	chr2	242437662	242437662	+	Frame_Shift_Del	DEL	G	G	-													gaacagaccttctgtgaactGtgcagggccgtccccttgtg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr2:242437661_242437661TG>T	uc002wbm.3	-	7	1292	c.1021_1021CA>A	c.(1021-1023)agtfs	p.S341fs	STK25_uc002wbl.3_3'UTR|STK25_uc002wbn.3_Frame_Shift_Del_p.S341fs|STK25_uc002wbo.3_Frame_Shift_Del_p.S264fs|STK25_uc010zos.2_Frame_Shift_Del_p.S247fs|STK25_uc010zot.2_Frame_Shift_Del_p.S267fs|STK25_uc002wbp.3_Frame_Shift_Del_p.S341fs|STK25_uc010fzo.3_Frame_Shift_Del_p.S264fs|STK25_uc010zou.2_Frame_Shift_Del_p.S247fs|STK25_uc010zov.2_Frame_Shift_Del_p.S247fs	NM_006374	NP_006365	O00506	STK25_HUMAN	Homo sapiens serine/threonine kinase 25 (STK25), mRNA.	341					response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TTCTGTGAACTGTGCAGGGCC	0.662													-	242437662	G	-	242437662	7	5	45	1	0	1	0	1	0	0	0	0	15293	1368	48	0	276	0	STK25	2	242437662	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	5314	242437662	761711	217	36573											
LMCD1	29995	broad.mit.edu	37	chr3	8590329	8590329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtgccttttaccgccgcCgccagctcatgcaccagctc	10	17	1	0	rs145385804	by1000genomes	TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:8590329C>T	uc003bqq.2	+	4	577	c.463C>T	c.(463-465)CGC>TGC	p.R155C	LMCD1_uc011atd.1_Missense_Mutation_p.R82C|LMCD1_uc011ate.1_Missense_Mutation_p.R43C|LMCD1_uc011atf.1_Missense_Mutation_p.R82C	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	155	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)		TTACCGCCGCCGCCAGCTCAT	0.562													T	8590329	C	T	8590329	3	4	45	1	0	0	0	0	1	0	0	0	8844	652	23	1	477	1	LMCD1	3	8590329	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08		8590329	189432101	218	36574											
BRPF1	7862	broad.mit.edu	37	chr3	9776020	9776020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagcacaagaaaaaggggCgccagtcacgcccagccaac	11	14	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:9776020C>T	uc003bse.2	+	2	595	c.196C>T	c.(196-198)CGC>TGC	p.R66C	BRPF1_uc003bsf.2_Missense_Mutation_p.R66C|BRPF1_uc003bsg.2_Missense_Mutation_p.R66C|BRPF1_uc011ati.1_Missense_Mutation_p.R66C	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	66	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					GAAAAAGGGGCGCCAGTCACG	0.572													T	9776020	C	T	9776020	3	4	45	1	0	0	0	0	1	0	0	0	1520	768	27	1	198	1	BRPF1	3	9776020	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1185691	9776020	188246410	219	36575											
BRPF1	7862	broad.mit.edu	37	chr3	9776143	9776143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggacttgcatggccgcGtccaccgcatcagcatcttt	11	13	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:9776143G>A	uc003bse.2	+	2	718	c.319G>A	c.(319-321)GTC>ATC	p.V107I	BRPF1_uc003bsf.2_Missense_Mutation_p.V107I|BRPF1_uc003bsg.2_Missense_Mutation_p.V107I|BRPF1_uc011ati.1_Missense_Mutation_p.V107I	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	107	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					GCATGGCCGCGTCCACCGCAT	0.602													A	9776143	G	A	9776143	3	1	45	1	0	0	0	0	1	0	0	0	1520	1145	40	1	321	1	BRPF1	3	9776143	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	123	9776143	188246287	220	36576											
PPARG	5468	broad.mit.edu	37	chr3	12458573	12458573	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttatggagcccaagtttgAgtttgctgtgaagttcaatg	11	6	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:12458573A>G	uc003bwx.2	+	6	1281	c.1190A>G	c.(1189-1191)GAG>GGG	p.E397G	PPARG_uc003bwr.2_Missense_Mutation_p.E369G|PPARG_uc003bws.2_Missense_Mutation_p.E369G|PPARG_uc003bwu.2_Missense_Mutation_p.E369G|PPARG_uc003bwv.2_Intron|PPARG_uc010hea.1_RNA	NM_015869	NP_056953	P37231	PPARG_HUMAN	peroxisome proliferative activated receptor	397	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|kidney(1)	2					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CCCAAGTTTGAGTTTGCTGTG	0.428			T	PAX8	follicular thyroid		Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension						G	12458573	A	G	12458573	3	3	45	1	0	0	0	0	1	0	0	0	12299	304	11	3	1212	3	PPARG	3	12458573	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	2682430	12458573	185563857	221	36577											
NR2C2	7182	broad.mit.edu	37	chr3	15045441	15045441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgaccagcccctccccacGcatccagataatctccaccg	6	19	1	2	rs146761800		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:15045441G>A	uc003bzj.3	+	2	237	c.20G>A	c.(19-21)CGC>CAC	p.R7H	NR2C2_uc003bzi.2_Missense_Mutation_p.R7H	NM_003298	NP_003289	P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	7					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0						CCCTCCCCACGCATCCAGATA	0.562													A	15045441	G	A	15045441	3	1	45	1	0	0	0	0	1	0	0	0	10623	1087	38	1	22	1	NR2C2	3	15045441	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2586868	15045441	182976989	222	36578											
ANKRD28	23243	broad.mit.edu	37	chr3	15755084	15755084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttgatcagcagctcatgGccataccgtgctgctatgtg	12	10	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:15755084G>A	uc003caj.1	-	10	1193	c.1050C>T	c.(1048-1050)GGC>GGT	p.G350G	ANKRD28_uc003cai.1_Silent_p.G196G|ANKRD28_uc011avz.1_Silent_p.G196G|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Silent_p.G380G|ANKRD28_uc003cam.2_Silent_p.G383G	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	350	ANK 10.					nucleoplasm	protein binding			breast(1)	1						GCAGCTCATGGCCATACCGTG	0.453													A	15755084	G	A	15755084	2	1	45	1	0	0	0	0	0	0	0	1	656	1190	42	2		2	ANKRD28	3	15755084	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	709643	15755084	182267346	223	36579											
PLCD1	5333	broad.mit.edu	37	chr3	38052911	38052911	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caatctcctcgtcctccaggGagtctgtctgggagtggtca	12	12	4	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:38052911G>T	uc003chn.2	-	5	708	c.584C>A	c.(583-585)TCC>TAC	p.S195Y	PLCD1_uc003chm.2_Missense_Mutation_p.S216Y	NM_006225	NP_006216	P51178	PLCD1_HUMAN	phospholipase C, delta 1 isoform 2	195	2 (Potential).|EF-hand 2.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GTCCTCCAGGGAGTCTGTCTG	0.662													T	38052911	G	T	38052911	3	4	45	1	0	0	0	0	1	0	0	0	12031	1174	41	5	1730	5	PLCD1	3	38052911	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	22297827	38052911	159969519	224	36580											
XYLB	9942	broad.mit.edu	37	chr3	38404473	38404473	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggcttcgggcttcgacTtctctcaagtcctagccttg	10	12	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:38404473T>A	uc003cic.2	+	4	365	c.256T>A	c.(256-258)TTC>ATC	p.F86I	XYLB_uc011ayp.1_Intron|XYLB_uc003cid.1_Missense_Mutation_p.F8I	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	86					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GGGCTTCGACTTCTCTCAAGT	0.527													A	38404473	T	A	38404473	3	1	45	1	0	0	0	0	1	0	0	0	17459	1609	56	5	270	5	XYLB	3	38404473	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	351562	38404473	159617957	225	36581											
SCN10A	6336	broad.mit.edu	37	chr3	38750970	38750970	+	Splice_Site	DEL	T	T	-													actcctgagcaccacttatcTtttttttctgttgattgaag							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:38750969_38750969CT>C	uc003ciq.3	-	24	4281	c.4281_splice	c.e24+1	p.K1427_splice		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1427					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CACCACTTATCTTTTTTTTCT	0.413													-	38750970	T	-	38750970	8	5	45	1	0	1	0	1	0	0	1	0	13912	1623	56	0	1606	0	SCN10A	3	38750970	Splice_Site	DEL	T	TCGA-BR-6852-01A-11D-1882-08	346497	38750970	159271460	226	36582											
TTC21A	199223	broad.mit.edu	37	chr3	39174572	39174572	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagtctcggatactgaaGcgagttccactggagcaacc	10	13	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:39174572G>A	uc003cjc.2	+	20	2790	c.2613G>A	c.(2611-2613)AAG>AAA	p.K871K	TTC21A_uc003cje.2_Silent_p.K872K|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Silent_p.K823K|TTC21A_uc011ayy.1_5'UTR|TTC21A_uc003cjf.2_5'UTR	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	871							binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGATACTGAAGCGAGTTCCAC	0.498													A	39174572	G	A	39174572	2	1	45	1	0	0	0	0	0	0	0	1	16684	962	34	2		2	TTC21A	3	39174572	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	423602	39174572	158847858	227	36583											
TRAK1	22906	broad.mit.edu	37	chr3	42264629	42264629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatttctgctgccgtgtaCgacccccagagctgggacag	13	13	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:42264629C>T	uc003cky.2	+	16	2478	c.2262C>T	c.(2260-2262)TAC>TAT	p.Y754Y	TRAK1_uc011azi.1_Silent_p.Y733Y	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	754					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						CTGCCGTGTACGACCCCCAGA	0.637													T	42264629	C	T	42264629	2	4	45	1	0	0	0	0	0	0	0	1	16446	547	19	1		1	TRAK1	3	42264629	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3090057	42264629	155757801	228	36584											
ZBTB47	92999	broad.mit.edu	37	chr3	42701286	42701286	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctggagagcgagctgctgcTgcacaggcagacagactgcg	16	11	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:42701286T>A	uc003clu.1	+	1	413	c.311T>A	c.(310-312)CTG>CAG	p.L104Q		NM_145166	NP_660149	Q9UFB7	ZBT47_HUMAN	zinc finger protein 651	104	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.216)		GAGCTGCTGCTGCACAGGCAG	0.632													A	42701286	T	A	42701286	3	1	45	1	0	0	0	0	1	0	0	0	17545	1580	55	5	1441	5	ZBTB47	3	42701286	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	436657	42701286	155321144	229	36585											
CCDC13	152206	broad.mit.edu	37	chr3	42777197	42777197	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgccagtgccctactcAcgtgcacattgagttgtccg	11	14	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:42777197A>G	uc003cly.3	-	10	1455	c.1371_splice	c.e10+1	p.H457_splice		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13											ovary(1)	1						TGCCCTACTCACGTGCACATT	0.582													G	42777197	A	G	42777197	5	3	45	1	0	0	0	0	0	0	1	0	2765	173	6	3	802	3	CCDC13	3	42777197	Splice_Site	SNP	A	TCGA-BR-6852-01A-11D-1882-08	75911	42777197	155245233	230	36586											
ZNF167	55888	broad.mit.edu	37	chr3	44598765	44598765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaagcattgagccggcttCgggagctctgccgctggtgg	17	10	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:44598765C>T	uc010hin.2	+	2	614	c.226C>T	c.(226-228)CGG>TGG	p.R76W	ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Missense_Mutation_p.R76W|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.R76W|ZNF167_uc003cnk.2_Missense_Mutation_p.R76W	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	76	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		GAGCCGGCTTCGGGAGCTCTG	0.582													T	44598765	C	T	44598765	3	4	45	1	0	0	0	0	1	0	0	0	17738	875	31	1	228	1	ZNF167	3	44598765	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1821568	44598765	153423665	231	36587											
KIF15	56992	broad.mit.edu	37	chr3	44816853	44816853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttatctgtgctgtcctccaCgagtctccggctgcactcca	8	16	2	0	rs147576633		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:44816853C>T	uc003cnx.3	+	3	319	c.170C>T	c.(169-171)ACG>ATG	p.T57M	KIF15_uc010hiq.2_Translation_Start_Site	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	57	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		CTGTCCTCCACGAGTCTCCGG	0.473													T	44816853	C	T	44816853	3	4	45	1	0	0	0	0	1	0	0	0	8277	536	19	1	180	1	KIF15	3	44816853	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	218088	44816853	153205577	232	36588											
FYCO1	79443	broad.mit.edu	37	chr3	46008021	46008021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgaggctgcctctttggcGtcctggagctcctggacagc	13	13	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:46008021G>A	uc003cpb.3	-	8	3011	c.2805C>T	c.(2803-2805)GAC>GAT	p.D935D	FYCO1_uc011bal.1_Silent_p.D935D	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	935	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCTCTTTGGCGTCCTGGAGCT	0.622													A	46008021	G	A	46008021	2	1	45	1	0	0	0	0	0	0	0	1	6125	1136	40	1		1	FYCO1	3	46008021	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1191168	46008021	152014409	233	36589											
PTPN23	25930	broad.mit.edu	37	chr3	47453286	47453286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcagcaaaaagtggcacGctacttccccaccgagaggg	10	15	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:47453286G>A	uc003crf.1	+	21	3998	c.3902G>A	c.(3901-3903)CGC>CAC	p.R1301H	PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.R1171H|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1301	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAAGTGGCACGCTACTTCCCC	0.647													A	47453286	G	A	47453286	3	1	45	1	0	0	0	0	1	0	0	0	12788	1087	38	1	3984	1	PTPN23	3	47453286	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1445265	47453286	150569144	234	36590											
SCAP	22937	broad.mit.edu	37	chr3	47460866	47460866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagagcgtcggccagtggCggaaggacaatttcctccaa	13	10	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:47460866C>T	uc003crh.1	-	13	2147	c.1892G>A	c.(1891-1893)CGC>CAC	p.R631H	SCAP_uc011baz.1_Missense_Mutation_p.R376H|SCAP_uc003crg.2_Missense_Mutation_p.R239H	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	631	Lumenal (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CGGCCAGTGGCGGAAGGACAA	0.582													T	47460866	C	T	47460866	3	4	45	1	0	0	0	0	1	0	0	0	13877	768	27	1	1991	1	SCAP	3	47460866	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	7580	47460866	150561564	235	36591											
QARS	5859	broad.mit.edu	37	chr3	49135641	49135641	+	Frame_Shift_Del	DEL	A	A	-													ctaccaggttcaggtcacttAaaaatccaccaggcacctca							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:49135640_49135640TA>T	uc003cvx.3	-	21	2141	c.2136_2136TA>A	c.(2134-2136)ttafs	p.L712fs	QARS_uc011bcc.2_Frame_Shift_Del_p.L165fs|QARS_uc011bcd.2_Frame_Shift_Del_p.L567fs|QARS_uc003cvy.3_Frame_Shift_Del_p.L567fs|QARS_uc011bce.2_Frame_Shift_Del_p.L701fs	NM_005051	NP_005042	P47897	SYQ_HUMAN	Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	712					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TCAGGTCACTTAAAAATCCAC	0.552													-	49135641	A	-	49135641	7	5	45	1	0	1	0	1	0	0	0	0	12871	372	13	0	204	0	QARS	3	49135641	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	1674775	49135641	148886789	236	36592											
USP4	7375	broad.mit.edu	37	chr3	49321537	49321537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggtcaaacttttttgtgGcctgttgatgcttcttacag	9	7	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:49321537G>A	uc003cwq.2	-	19	2502	c.2423C>T	c.(2422-2424)GCC>GTC	p.A808V	USP4_uc003cwo.2_Missense_Mutation_p.A520V|USP4_uc003cwp.2_Missense_Mutation_p.A538V|USP4_uc003cwr.2_Missense_Mutation_p.A761V	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	808					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CTTTTTTGTGGCCTGTTGATG	0.512													A	49321537	G	A	49321537	3	1	45	1	0	0	0	0	1	0	0	0	17068	1203	42	2	484	2	USP4	3	49321537	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	185896	49321537	148700893	237	36593											
BSN	8927	broad.mit.edu	37	chr3	49689135	49689135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtgcaggggtgacagggCcacatccacccagcccctcc	11	17	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:49689135C>T	uc003cxe.3	+	5	2260	c.2146C>T	c.(2146-2148)CCA>TCA	p.P716S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	716					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGTGACAGGGCCACATCCACC	0.632													T	49689135	C	T	49689135	3	4	45	1	0	0	0	0	1	0	0	0	1530	739	26	2	2164	2	BSN	3	49689135	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	367598	49689135	148333295	238	36594											
UBA7	7318	broad.mit.edu	37	chr3	49850959	49850959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggtggggatcatgcagagTgaggctgcccacacccatca	15	11	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:49850959T>C	uc003cxr.2	-	2	349	c.178A>G	c.(178-180)ACT>GCT	p.T60A		NM_003335	NP_003326	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	60	2 approximate repeats.|1-1.				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)		TCATGCAGAGTGAGGCTGCCC	0.662													C	49850959	T	C	49850959	3	2	45	1	0	0	0	0	1	0	0	0	16830	1696	59	3	2952	3	UBA7	3	49850959	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	161824	49850959	148171471	239	36595											
CAMKV	79012	broad.mit.edu	37	chr3	49898646	49898646	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccacagggctccttgaTgaggccattttctagcttag	11	11	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:49898646T>C	uc003cxt.1	-	6	722	c.529A>G	c.(529-531)ATC>GTC	p.I177V	CAMKV_uc011bcy.1_Missense_Mutation_p.I102V|CAMKV_uc003cxv.1_Missense_Mutation_p.I177V|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Missense_Mutation_p.I177V|CAMKV_uc011bcz.1_Missense_Mutation_p.I140V|CAMKV_uc011bda.1_Missense_Mutation_p.I134V|CAMKV_uc011bdb.1_RNA	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	177	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGCTCCTTGATGAGGCCATTT	0.577													C	49898646	T	C	49898646	3	2	45	1	0	0	0	0	1	0	0	0	2608	1464	51	3	1000	3	CAMKV	3	49898646	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	47687	49898646	148123784	240	36596											
RBM6	10180	broad.mit.edu	37	chr3	50005642	50005642	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatttcagaggtagacacCgatctaggactgatcaggat	11	8	3	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:50005642C>T	uc003cyc.2	+	3	917	c.784C>T	c.(784-786)CGA>TGA	p.R262*	RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	262					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGGTAGACACCGATCTAGGAC	0.448													T	50005642	C	T	50005642	4	4	45	1	0	0	0	0	0	1	0	0	13144	644	23	1	790	1	RBM6	3	50005642	Nonsense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	106996	50005642	148016788	241	36597											
DOCK3	1795	broad.mit.edu	37	chr3	51418626	51418626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcggaggccccacctcGcactgacaccatggactcca	8	19	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:51418626G>A	uc011bds.1	+	53	5752	c.5729G>A	c.(5728-5730)CGC>CAC	p.R1910H		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1910						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCCCCACCTCGCACTGACACC	0.607													A	51418626	G	A	51418626	3	1	45	1	0	0	0	0	1	0	0	0	4688	1087	38	1	5939	1	DOCK3	3	51418626	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1412984	51418626	146603804	242	36598											
TEX264	51368	broad.mit.edu	37	chr3	51708379	51708379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactctcttactgctgctgaCgctgctggcctttgccgggt	12	13	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:51708379C>T	uc010hls.2	+	3	228	c.59C>T	c.(58-60)ACG>ATG	p.T20M	TEX264_uc003dbk.3_Missense_Mutation_p.T20M|TEX264_uc010hlt.2_Intron|TEX264_uc003dbl.3_Missense_Mutation_p.T20M|TEX264_uc003dbm.3_Missense_Mutation_p.T59M	NM_001129884	NP_001123356	Q9Y6I9	TX264_HUMAN	testis expressed 264 precursor	20						extracellular region					0				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		CTGCTGCTGACGCTGCTGGCC	0.607													T	51708379	C	T	51708379	3	4	45	1	0	0	0	0	1	0	0	0	15780	536	19	1	61	1	TEX264	3	51708379	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	289753	51708379	146314051	243	36599											
GRM2	2912	broad.mit.edu	37	chr3	51746637	51746637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccatggctgagattctccGcttcttcaactggacctatg	10	12	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:51746637G>A	uc010hlv.2	+	3	838	c.599G>A	c.(598-600)CGC>CAC	p.R200H	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	200	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GAGATTCTCCGCTTCTTCAAC	0.562													A	51746637	G	A	51746637	3	1	45	1	0	0	0	0	1	0	0	0	6797	1087	38	1	605	1	GRM2	3	51746637	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	38258	51746637	146275793	244	36600											
GRM2	2912	broad.mit.edu	37	chr3	51746765	51746765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacctcggagaaagtgggcCgtgccatgagccgcgcggcc	15	15	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:51746765C>T	uc010hlv.2	+	3	966	c.727C>T	c.(727-729)CGT>TGT	p.R243C	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	243	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GAAAGTGGGCCGTGCCATGAG	0.647													T	51746765	C	T	51746765	3	4	45	1	0	0	0	0	1	0	0	0	6797	652	23	1	733	1	GRM2	3	51746765	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	128	51746765	146275665	245	36601											
SFMBT1	51460	broad.mit.edu	37	chr3	52941085	52941085	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactattttttaaatggtacCtttggtgaaggaggtttatt	9	3	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:52941085C>A	uc003dgf.2	-	20	2900	c.2331G>T	c.(2329-2331)AAG>AAT	p.K777N	SFMBT1_uc010hmr.2_Missense_Mutation_p.K724N|SFMBT1_uc003dgg.2_Missense_Mutation_p.K777N|SFMBT1_uc003dgh.2_Missense_Mutation_p.K777N	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	777					regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TAAATGGTACCTTTGGTGAAG	0.353													A	52941085	C	A	52941085	3	1	45	1	0	0	0	0	1	0	0	0	14157	695	24	5	281	5	SFMBT1	3	52941085	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1194320	52941085	145081345	246	36602											
SLMAP	7871	broad.mit.edu	37	chr3	57913112	57913112	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctggccagagcttctccAtgagagcgttccttgagtcc	12	12	2	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:57913112A>G	uc003dje.1	+	22	2689	c.2484A>G	c.(2482-2484)CCA>CCG	p.P828P	SLMAP_uc003djd.1_Silent_p.P811P|SLMAP_uc003djf.1_Silent_p.P790P|SLMAP_uc003djg.1_3'UTR|SLMAP_uc011bez.1_Silent_p.P296P|SLMAP_uc011bfa.1_Silent_p.P362P|SLMAP_uc003dji.1_3'UTR|SLMAP_uc011bfb.1_Silent_p.P362P|SLMAP_uc011bfc.1_3'UTR	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	828	Extracellular (Potential).				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GAGCTTCTCCATGAGAGCGTT	0.542													G	57913112	A	G	57913112	2	3	45	1	0	0	0	0	0	0	0	1	14749	204	8	3		3	SLMAP	3	57913112	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	4972027	57913112	140109318	247	36603											
MAGI1	9223	broad.mit.edu	37	chr3	65479197	65479197	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaactcaccttcataggtGccgacttccagaagagtccc	8	13	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:65479197G>A	uc003dmn.2	-	3	1066	c.540C>T	c.(538-540)GGC>GGT	p.G180G	MAGI1_uc003dmm.2_Silent_p.G180G|MAGI1_uc003dmo.2_Silent_p.G180G|MAGI1_uc003dmp.2_Silent_p.G180G|MAGI1_uc010hny.2_Silent_p.G64G|MAGI1_uc003dmr.2_Silent_p.G180G	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	180	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTTCATAGGTGCCGACTTCCA	0.493													A	65479197	G	A	65479197	2	1	45	1	0	0	0	0	0	0	0	1	9190	1306	46	2		2	MAGI1	3	65479197	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	7566085	65479197	132543233	248	36604											
FRMD4B	23150	broad.mit.edu	37	chr3	69246143	69246143	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagttagcataccatgtttGcacaaacaagccactttgcc	7	11	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:69246143G>A	uc003dnv.2	-	13	1290	c.1000C>T	c.(1000-1002)CAA>TAA	p.Q334*	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_5'UTR|FRMD4B_uc011bga.1_Nonsense_Mutation_p.Q178*	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	334	FERM.					cytoplasm|cytoskeleton	binding			ovary(3)|central_nervous_system(1)	4		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TACCATGTTTGCACAAACAAG	0.408													A	69246143	G	A	69246143	4	1	45	1	0	0	0	0	0	1	0	0	6052	1328	46	2	2148	2	FRMD4B	3	69246143	Nonsense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	3766946	69246143	128776287	249	36605											
PDZRN3	23024	broad.mit.edu	37	chr3	73433872	73433872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgaagggcaggtcgccGctgcccaaggtgtcctggct	15	12	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:73433872G>A	uc003dpl.1	-	10	1941	c.1845C>T	c.(1843-1845)AGC>AGT	p.S615S	PDZRN3_uc011bgh.1_Silent_p.S272S|PDZRN3_uc010hoe.1_Silent_p.S313S|PDZRN3_uc011bgf.1_Silent_p.S332S|PDZRN3_uc011bgg.1_Silent_p.S335S	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	615							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCAGGTCGCCGCTGCCCAAGG	0.657													A	73433872	G	A	73433872	2	1	45	1	0	0	0	0	0	0	0	1	11709	1078	38	1		1	PDZRN3	3	73433872	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	4187729	73433872	124588558	250	36606											
IMPG2	50939	broad.mit.edu	37	chr3	100986374	100986374	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcattttccttgggggAcctgaaaacaaaaattaaaa	7	8	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:100986374A>G	uc003duq.1	-	9	1092	c.889T>C	c.(889-891)TCC>CCC	p.S297P	IMPG2_uc011bhe.1_Missense_Mutation_p.S160P	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	297	Extracellular (Potential).|SEA 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						TCCTTGGGGGACCTGAAAACA	0.363													G	100986374	A	G	100986374	3	3	45	1	0	0	0	0	1	0	0	0	7729	289	10	3	2880	3	IMPG2	3	100986374	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	27552502	100986374	97036056	251	36607											
BBX	56987	broad.mit.edu	37	chr3	107492284	107492284	+	Frame_Shift_Del	DEL	A	A	-													ggtgagacaccagagggtatAaaagcagaaccattgacccc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:107492283_107492283TA>T	uc010hpr.3	+	10	2042	c.1715_1715TA>T	c.(1714-1716)atafs	p.I572fs	BBX_uc003dwk.4_Frame_Shift_Del_p.I572fs|BBX_uc003dwl.4_Intron|BBX_uc010hps.1_Frame_Shift_Del_p.I593fs|BBX_uc003dwm.4_Frame_Shift_Del_p.I572fs|BBX_uc003dwo.4_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CCAGAGGGTATAAAAGCAGAA	0.453													-	107492284	A	-	107492284	7	5	45	1	0	1	0	1	0	0	0	0	1343	352	13	0	1746	0	BBX	3	107492284	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	6505910	107492284	90530146	252	36608											
DPPA2	151871	broad.mit.edu	37	chr3	109027089	109027089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcttggtcactgccttgcGtttcctcgaacatcgctgta	8	13	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:109027089G>A	uc003dxo.2	-	6	695	c.448C>T	c.(448-450)CGC>TGC	p.R150C		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	150						nucleus	nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)	3						ACTGCCTTGCGTTTCCTCGAA	0.448													A	109027089	G	A	109027089	3	1	45	1	0	0	0	0	1	0	0	0	4734	1145	40	1	460	1	DPPA2	3	109027089	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1534805	109027089	88995341	253	36609											
BOC	91653	broad.mit.edu	37	chr3	112991288	112991288	+	Frame_Shift_Del	DEL	C	C	-													gaggctgcccgcatcatctaCcccccagaggcccaaaccat							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:112991287_112991287AC>A	uc003dzx.3	+	6	1319	c.698_698AC>A	c.(697-699)tacfs	p.Y233fs	BOC_uc003dzy.3_Frame_Shift_Del_p.Y233fs|BOC_uc003dzz.3_Frame_Shift_Del_p.Y233fs|BOC_uc003eab.3_5'UTR	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	233					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CGCATCATCTACCCCCCAGAG	0.627													-	112991288	C	-	112991288	7	5	45	1	0	1	0	1	0	0	0	0	1481	518	18	0	717	0	BOC	3	112991288	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	3964199	112991288	85031142	254	36610											
ATP6V1A	523	broad.mit.edu	37	chr3	113513964	113513964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatccagcctatcttggtgCccgtctggcctcgttttatg	9	12	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:113513964C>T	uc003eao.2	+	10	1205	c.1139C>T	c.(1138-1140)GCC>GTC	p.A380V	ATP6V1A_uc011bik.1_Missense_Mutation_p.A347V	NM_001690	NP_001681	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit A	380					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(2)|skin(1)	3						TATCTTGGTGCCCGTCTGGCC	0.443													T	113513964	C	T	113513964	3	4	45	1	0	0	0	0	1	0	0	0	1177	739	26	2	1173	2	ATP6V1A	3	113513964	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	522676	113513964	84508466	255	36611											
DRD3	1814	broad.mit.edu	37	chr3	113850211	113850211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcagatgctgtagtaacGcttcagctccagatgtgccg	12	11	1	2	rs149736958	by1000genomes	TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:113850211G>A	uc003ebd.2	-	7	1183	c.760C>T	c.(760-762)CGT>TGT	p.R254C	DRD3_uc010hqn.1_Missense_Mutation_p.R254C|DRD3_uc003ebb.1_Missense_Mutation_p.R254C|DRD3_uc003ebc.1_Missense_Mutation_p.R254C	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	254	Cytoplasmic.				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	p.R254H(1)		ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	CTGTAGTAACGCTTCAGCTCC	0.512													A	113850211	G	A	113850211	3	1	45	1	0	0	0	0	1	0	0	0	4758	1087	38	1	450	1	DRD3	3	113850211	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	336247	113850211	84172219	256	36612											
NR1I2	8856	broad.mit.edu	37	chr3	119534274	119534274	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgatgcaggccatctccCtcttctccccaggtgaggat	10	14	3	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:119534274C>A	uc003edj.2	+	7	2881	c.1042C>A	c.(1042-1044)CTC>ATC	p.L348I	NR1I2_uc003edi.2_Missense_Mutation_p.L311I|NR1I2_uc003edk.2_Missense_Mutation_p.L387I|NR1I2_uc003edl.2_Missense_Mutation_p.L236I	NM_003889	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	348	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	GGCCATCTCCCTCTTCTCCCC	0.572													A	119534274	C	A	119534274	3	1	45	1	0	0	0	0	1	0	0	0	10620	681	24	5	1185	5	NR1I2	3	119534274	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	5684063	119534274	78488156	257	36613											
PARP15	165631	broad.mit.edu	37	chr3	122345823	122345823	+	Frame_Shift_Del	DEL	A	A	-													atatattctacgacagcatgAaaaaaagagacctctctgca							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:122345822_122345822GA>G	uc003efm.2	+	8	1446	c.1380_1380GA>G	c.(1378-1380)atgfs	p.M460fs	PARP15_uc003efn.2_Intron|PARP15_uc003efo.1_Frame_Shift_Del_p.M207fs|PARP15_uc003efp.1_Frame_Shift_Del_p.M226fs|PARP15_uc011bjt.1_Intron	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA.	438	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		ACGACAGCATGAAAAAAAGAG	0.373													-	122345823	A	-	122345823	7	5	45	1	0	1	0	1	0	0	0	0	11459	247	9	0	1484	0	PARP15	3	122345823	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	2811549	122345823	75676607	258	36614											
MCM2	4171	broad.mit.edu	37	chr3	127335932	127335932	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctggttctggctgaccgaGgagtgtgtctcattgatgaa	13	9	2	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:127335932G>T	uc003ejp.2	+	10	1801	c.1744G>T	c.(1744-1746)GGA>TGA	p.G582*	MCM2_uc011bkm.1_Nonsense_Mutation_p.G452*|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Nonsense_Mutation_p.G535*	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	582	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						GGCTGACCGAGGAGTGTGTCT	0.642													T	127335932	G	T	127335932	4	4	45	1	0	0	0	0	0	1	0	0	9386	1001	35	5	1782	5	MCM2	3	127335932	Nonsense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	4990109	127335932	70686498	259	36615											
IFT122	55764	broad.mit.edu	37	chr3	129221612	129221612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagcccctgctgctgtgcGctacctacctcaagaagctg	11	15	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:129221612G>A	uc003emm.2	+	20	2640	c.2434G>A	c.(2434-2436)GCT>ACT	p.A812T	IFT122_uc003eml.2_Missense_Mutation_p.A863T|IFT122_uc003emn.2_Missense_Mutation_p.A753T|IFT122_uc003emo.2_Missense_Mutation_p.A701T|IFT122_uc003emp.2_Missense_Mutation_p.A662T|IFT122_uc010htc.2_Missense_Mutation_p.A804T|IFT122_uc011bky.1_Missense_Mutation_p.A603T|IFT122_uc003emq.2_Missense_Mutation_p.A652T|IFT122_uc003emr.2_Missense_Mutation_p.A564T|IFT122_uc011bla.1_Missense_Mutation_p.A585T|IFT122_uc010hte.2_Missense_Mutation_p.A138T|IFT122_uc003ems.2_Missense_Mutation_p.A193T|IFT122_uc011bkx.1_Missense_Mutation_p.A652T|IFT122_uc010htd.1_Missense_Mutation_p.A291T	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	812					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						GCTGCTGTGCGCTACCTACCT	0.572													A	129221612	G	A	129221612	3	1	45	1	0	0	0	0	1	0	0	0	7555	1087	38	1	2669	1	IFT122	3	129221612	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1885680	129221612	68800818	260	36616											
RHO	6010	broad.mit.edu	37	chr3	129249797	129249797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagcccatgagcaacttccGcttcggggagaaccatgcca	10	13	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:129249797G>A	uc003emt.2	+	2	535	c.440G>A	c.(439-441)CGC>CAC	p.R147H		NM_000539	NP_000530	P08100	OPSD_HUMAN	rhodopsin	147	Cytoplasmic.				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding				0		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	AGCAACTTCCGCTTCGGGGAG	0.637													A	129249797	G	A	129249797	3	1	45	1	0	0	0	0	1	0	0	0	13330	1087	38	1	446	1	RHO	3	129249797	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	28185	129249797	68772633	261	36617											
COL6A6	131873	broad.mit.edu	37	chr3	130287372	130287372	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgggaggcccgagatggtTttttatgttgagaattttga	14	3	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:130287372T>C	uc010htl.2	+	5	2356	c.2325T>C	c.(2323-2325)GTT>GTC	p.V775V		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	775	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						CCGAGATGGTTTTTTATGTTG	0.473													C	130287372	T	C	130287372	2	2	45	1	0	0	0	0	0	0	0	1	3703	1828	64	3		3	COL6A6	3	130287372	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1037575	130287372	67735058	262	36618											
ACAD11	84129	broad.mit.edu	37	chr3	132322160	132322160	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcgtggcatcacttgaagCtacatcaggttctataaata	7	8	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:132322160C>A	uc003eov.3	-	13	1914	c.1534G>T	c.(1534-1536)GCT>TCT	p.A512S	ACAD11_uc011blr.1_Missense_Mutation_p.A123S	NM_032169	NP_115545	Q709F0	ACD11_HUMAN	putative acyl-CoA dehydrogenase	512	FAD.|FAD.					peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups			ovary(1)	1						TCACTTGAAGCTACATCAGGT	0.368													A	132322160	C	A	132322160	3	1	45	1	0	0	0	0	1	0	0	0	109	797	28	5	840	5	ACAD11	3	132322160	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2034788	132322160	65700270	263	36619											
DZIP1L	199221	broad.mit.edu	37	chr3	137790602	137790602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaattcagaaaacttccGggccttctgctcccgctgga	9	13	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:137790602G>A	uc003erq.2	-	12	1861	c.1498C>T	c.(1498-1500)CGG>TGG	p.R500W	DZIP1L_uc003err.1_Missense_Mutation_p.R500W	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	500						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						GAAAACTTCCGGGCCTTCTGC	0.537													A	137790602	G	A	137790602	3	1	45	1	0	0	0	0	1	0	0	0	4864	1115	39	1	834	1	DZIP1L	3	137790602	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	5468442	137790602	60231828	264	36620											
TRIM42	287015	broad.mit.edu	37	chr3	140401535	140401535	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctcatctgcccagtgtgCgaccgctcgcactgcatgcc	9	17	2	0	rs143917166		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:140401535C>T	uc003eto.1	+	2	764	c.573C>T	c.(571-573)TGC>TGT	p.C191C		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	191	RING-type.					intracellular	zinc ion binding			lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						GCCCAGTGTGCGACCGCTCGC	0.617													T	140401535	C	T	140401535	2	4	45	1	0	0	0	0	0	0	0	1	16514	776	27	1		1	TRIM42	3	140401535	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2610933	140401535	57620895	265	36621											
ATR	545	broad.mit.edu	37	chr3	142277486	142277486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatagctatctgaaatcctaCagcttaatgttagaagatta	6	6	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:142277486C>T	uc003eux.3	-	8	1987	c.1865G>A	c.(1864-1866)TGT>TAT	p.C622Y		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	622					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						TGAAATCCTACAGCTTAATGT	0.294								Other_conserved_DNA_damage_response_genes					T	142277486	C	T	142277486	3	4	45	1	0	0	0	0	1	0	0	0	1204	478	17	4	6229	4	ATR	3	142277486	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1875951	142277486	55744944	266	36622											
C3orf58	205428	broad.mit.edu	37	chr3	143708636	143708636	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggcagattccaggctgcaAaagaactgcgtgaataccta	10	9	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:143708636A>G	uc003evo.2	+	3	1781	c.1246A>G	c.(1246-1248)AAA>GAA	p.K416E	C3orf58_uc011bnl.1_Missense_Mutation_p.K207E	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	hypothetical protein LOC205428 isoform a	416						COPI vesicle coat|extracellular region				ovary(1)	1						CCAGGCTGCAAAAGAACTGCG	0.448													G	143708636	A	G	143708636	3	3	45	1	0	0	0	0	1	0	0	0	2236	15	1	3	1290	3	C3orf58	3	143708636	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	1431150	143708636	54313794	267	36623											
P2RY14	9934	broad.mit.edu	37	chr3	150931269	150931269	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagatagtagcagagtgAattctttcatataccgcaag	9	8	2	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:150931269A>G	uc003eyr.1	-	3	1314	c.836T>C	c.(835-837)TTC>TCC	p.F279S	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.F279S	NM_001081455	NP_001074924	Q15391	P2Y14_HUMAN	P2Y14 receptor	279	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			large_intestine(2)|ovary(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAGCAGAGTGAATTCTTTCAT	0.388													G	150931269	A	G	150931269	3	3	45	1	0	0	0	0	1	0	0	0	11351	246	9	3	184	3	P2RY14	3	150931269	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	7222633	150931269	47091161	268	36624											
MBNL1	4154	broad.mit.edu	37	chr3	152165478	152165478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaaccaacggtgccaccGcagtctttaacactggtatt	7	11	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:152165478G>A	uc003ezm.2	+	6	1720	c.931G>A	c.(931-933)GCA>ACA	p.A311T	MBNL1_uc003ezh.2_Missense_Mutation_p.A293T|MBNL1_uc003ezi.2_Missense_Mutation_p.A293T|MBNL1_uc003ezj.2_Missense_Mutation_p.A254T|MBNL1_uc003ezl.2_Missense_Mutation_p.A293T|MBNL1_uc003ezp.2_Intron|MBNL1_uc003ezn.2_Missense_Mutation_p.A225T|MBNL1_uc003ezo.2_Missense_Mutation_p.A225T|MBNL1_uc010hvp.2_Intron	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	muscleblind-like 1 isoform c	311					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CGGTGCCACCGCAGTCTTTAA	0.443													A	152165478	G	A	152165478	3	1	45	1	0	0	0	0	1	0	0	0	9353	1087	38	1	953	1	MBNL1	3	152165478	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1234209	152165478	45856952	269	36625											
DHX36	170506	broad.mit.edu	37	chr3	154006670	154006670	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaccagctccatcaggtgTcttatggagagtaacactgc	9	10	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:154006670T>C	uc003ezy.3	-	17	2097	c.2016A>G	c.(2014-2016)AGA>AGG	p.R672R	DHX36_uc010hvq.2_Silent_p.R658R|DHX36_uc003ezz.3_Silent_p.R672R	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	672						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CCATCAGGTGTCTTATGGAGA	0.348													C	154006670	T	C	154006670	2	2	45	1	0	0	0	0	0	0	0	1	4509	1664	58	3		3	DHX36	3	154006670	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1841192	154006670	44015760	270	36626											
CCNL1	57018	broad.mit.edu	37	chr3	156877202	156877203	+	Frame_Shift_Del	DEL	TG	TG	-													cgctgtgcttacctcgaaacTgtgtttgacgaaagatttgg					rs144436389		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:156877201_156877202CTG>C	uc003fbf.3	-	1	969_970	c.370_371CAG>G	c.(370-372)agtfs	p.S124fs	CCNL1_uc003fbd.1_Frame_Shift_Del_p.S124fs|CCNL1_uc003fbg.3_Non-coding_Transcript|CCNL1_uc011bor.2_Non-coding_Transcript|CCNL1_uc003fbi.1_5'UTR	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	Homo sapiens cyclin L1 (CCNL1), mRNA.	124	Cyclin-like 1.				RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			TACCTCGAAACTGTGTTTGACG	0.525													-	156877203	TG	-	156877202	7	5	45	1	0	1	0	1	0	0	0	0	2931	1580	55	0	1250	0	CCNL1	3	156877202	Frame_Shift_Del	DEL	TG	TCGA-BR-6852-01A-11D-1882-08	2870532	156877202	41145228	271	36627											
BCHE	590	broad.mit.edu	37	chr3	165548072	165548072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattaaaggatccactttgCagaatggctctggtgaacaa	10	8	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:165548072C>T	uc003fem.3	-	2	910	c.750G>A	c.(748-750)CTG>CTA	p.L250L	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	250					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	ATCCACTTTGCAGAATGGCTC	0.438													T	165548072	C	T	165548072	2	4	45	1	0	0	0	0	0	0	0	1	1358	697	25	2		2	BCHE	3	165548072	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	8670870	165548072	32474358	272	36628											
PIK3CA	5290	broad.mit.edu	37	chr3	178928348	178928348	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatttagctattcccacgcaGgactggtaaggcaaatcact	9	10	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:178928348G>T	uc003fjk.2	+	9	1691	c.1534G>T	c.(1534-1536)GGA>TGA	p.G512*		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	512					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTCCCACGCAGGACTGGTAAG	0.398		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			T	178928348	G	T	178928348	4	4	45	1	0	0	0	0	0	1	0	0	11913	1001	35	5	1564	5	PIK3CA	3	178928348	Nonsense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	13380276	178928348	19094082	273	36629											
GNB4	59345	broad.mit.edu	37	chr3	179131207	179131207	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctattcacttacactgacaGcattgatatctgagacatgt	7	9	2	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:179131207G>C	uc003fjv.3	-	8	972	c.692C>G	c.(691-693)GCT>GGT	p.A231G	GNB4_uc003fju.3_Missense_Mutation_p.A142G	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	guanine nucleotide-binding protein, beta-4	231	WD 5.				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			skin(2)	2	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			TACACTGACAGCATTGATATC	0.363													C	179131207	G	C	179131207	3	2	45	1	0	0	0	0	1	0	0	0	6520	971	34	5	342	5	GNB4	3	179131207	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	202859	179131207	18891223	274	36630											
YEATS2	55689	broad.mit.edu	37	chr3	183521825	183521825	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttacaagaaatcctggagaaGaatccgagatttcaccacct	7	10	1	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:183521825G>A	uc003fly.2	+	27	3828	c.3633G>A	c.(3631-3633)AAG>AAA	p.K1211K	uc003fma.1_3'UTR	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1211					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCCTGGAGAAGAATCCGAGAT	0.453													A	183521825	G	A	183521825	2	1	45	1	0	0	0	0	0	0	0	1	17469	933	33	4		4	YEATS2	3	183521825	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	4390618	183521825	14500605	275	36631											
ABCC5	10057	broad.mit.edu	37	chr3	183655752	183655752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtttgcttcggaggtcgGcaaggccaatatcactgatt	12	8	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:183655752G>A	uc003fmg.2	-	26	3956	c.3791C>T	c.(3790-3792)GCC>GTC	p.A1264V	ABCC5_uc011bqt.1_Missense_Mutation_p.A792V|ABCC5_uc010hxl.2_Missense_Mutation_p.A1221V	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1264	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCGGAGGTCGGCAAGGCCAAT	0.547													A	183655752	G	A	183655752	3	1	45	1	0	0	0	0	1	0	0	0	56	1203	42	2	542	2	ABCC5	3	183655752	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	133927	183655752	14366678	276	36632											
HTR3C	170572	broad.mit.edu	37	chr3	183778041	183778041	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccagctaatggagctgtgGgtgcagttcagccacgcgat	13	11	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:183778041G>T	uc003fmk.2	+	9	1279	c.1245G>T	c.(1243-1245)TGG>TGT	p.W415C		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine receptor 3 subunit C	415	Cytoplasmic (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGGAGCTGTGGGTGCAGTTCA	0.587													T	183778041	G	T	183778041	3	4	45	1	0	0	0	0	1	0	0	0	7446	1241	43	5	1279	5	HTR3C	3	183778041	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	122289	183778041	14244389	277	36633											
CLCN2	1181	broad.mit.edu	37	chr3	184064539	184064539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagctggcgaggggcggcCggactttcacaccctgtgct	16	12	1	0	rs149460784		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:184064539C>T	uc003foi.2	-	24	2676	c.2552G>A	c.(2551-2553)CGG>CAG	p.R851Q	CLCN2_uc003foh.2_Missense_Mutation_p.R340Q|CLCN2_uc010hya.1_Missense_Mutation_p.R834Q|CLCN2_uc011brl.1_Missense_Mutation_p.R822Q|CLCN2_uc011brm.1_Missense_Mutation_p.R807Q	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	851	Cytoplasmic (By similarity).					chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GAGGGGCGGCCGGACTTTCAC	0.637													T	184064539	C	T	184064539	3	4	45	1	0	0	0	0	1	0	0	0	3463	652	23	1	148	1	CLCN2	3	184064539	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	286498	184064539	13957891	278	36634											
EPHB3	2049	broad.mit.edu	37	chr3	184290449	184290449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctcaagttcactgtgcGtgactgcaacagcatcccca	10	13	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:184290449G>A	uc003foz.2	+	3	778	c.341G>A	c.(340-342)CGT>CAT	p.R114H		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	114	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TTCACTGTGCGTGACTGCAAC	0.597													A	184290449	G	A	184290449	3	1	45	1	0	0	0	0	1	0	0	0	5176	1145	40	1	351	1	EPHB3	3	184290449	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	225910	184290449	13731981	279	36635											
KNG1	3827	broad.mit.edu	37	chr3	186450357	186450357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagatatacccaccaacaGcccagagctggaggagacac	10	13	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:186450357G>A	uc011bsa.1	+	7	1036	c.824G>A	c.(823-825)AGC>AAC	p.S275N	KNG1_uc003fqr.2_Missense_Mutation_p.S275N	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	kininogen 1 isoform 1	275	Cystatin 3.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			skin(1)	1	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	CCCACCAACAGCCCAGAGCTG	0.438													A	186450357	G	A	186450357	3	1	45	1	0	0	0	0	1	0	0	0	8427	971	34	2	850	2	KNG1	3	186450357	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2159908	186450357	11572073	280	36636											
LEPREL1	55214	broad.mit.edu	37	chr3	189689785	189689785	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgactgaggtcatttcttcTatcctgctgacctgccagaa	8	11	3	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:189689785T>C	uc011bsk.1	-	12	2099	c.1711A>G	c.(1711-1713)AGA>GGA	p.R571G	LEPREL1_uc003fsg.2_Missense_Mutation_p.R390G	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	571	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCATTTCTTCTATCCTGCTGA	0.478													C	189689785	T	C	189689785	3	2	45	1	0	0	0	0	1	0	0	0	8730	1530	53	3	431	3	LEPREL1	3	189689785	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	3239428	189689785	8332645	281	36637											
MUC4	4585	broad.mit.edu	37	chr3	195515860	195515860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccggggacgatcgaagacGccattcctgtgcttactggg	14	11	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:195515860G>A	uc011bto.1	-	2	3051	c.2591C>T	c.(2590-2592)GCG>GTG	p.A864V	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.A746V	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	869	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GATCGAAGACGCCATTCCTGT	0.582													A	195515860	G	A	195515860	3	1	45	1	0	0	0	0	1	0	0	0	9978	1087	38	1		1	MUC4	3	195515860	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	5826075	195515860	2506570	282	36638											
PCYT1A	5130	broad.mit.edu	37	chr3	195974240	195974240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgtccagtttcttacccGgtgttcggccaggaactcgg	12	11	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:195974240G>A	uc003fwg.2	-	6	657	c.484C>T	c.(484-486)CGG>TGG	p.R162W	PCYT1A_uc003fwh.2_Missense_Mutation_p.R162W	NM_005017	NP_005008	P49585	PCY1A_HUMAN	choline phosphate cytidylyltransferase 1 alpha	162	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity				0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	TTTCTTACCCGGTGTTCGGCC	0.547													A	195974240	G	A	195974240	3	1	45	1	0	0	0	0	1	0	0	0	11610	1115	39	1	639	1	PCYT1A	3	195974240	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	458380	195974240	2048190	283	36639											
KIAA0226	9711	broad.mit.edu	37	chr3	197427915	197427916	+	Frame_Shift_Ins	INS	-	-	G													tagtgcagagactgaaactgINSggggggcttggatggtttga							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:197427914_197427915T>TG	uc003fyc.2	-	6	1013_1014	c.830_831A>CA	c.(829-831)ccafs	p.P277fs	KIAA0226_uc003fyd.3_Frame_Shift_Ins_p.P217fs|KIAA0226_uc003fye.1_5'UTR|KIAA0226_uc003fyf.3_Frame_Shift_Ins_p.P110fs|KIAA0226_uc003fyg.3_Frame_Shift_Ins_p.P270fs	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	277	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AGACTGAAACTGGGGGGGCTTG	0.554													G	197427916	-	G	197427915	7	5	45	1	0	1	1	0	0	0	0	0	8162	1348	47	0	2193	0	KIAA0226	3	197427915	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	1453675	197427915	594515	284	36640											
LRCH3	84859	broad.mit.edu	37	chr3	197593070	197593070	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccttttccgagcaggtgTcagggcagaaaccaacaaag	10	11	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr3:197593070T>G	uc011bul.1	+	17	1858	c.1853T>G	c.(1852-1854)GTC>GGC	p.V618G	LRCH3_uc003fyj.1_Missense_Mutation_p.V618G|LRCH3_uc011bum.1_Missense_Mutation_p.V566G|LRCH3_uc011bun.1_Missense_Mutation_p.V464G|LRCH3_uc003fyk.2_Missense_Mutation_p.V213G	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH)	618						extracellular region				ovary(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		CGAGCAGGTGTCAGGGCAGAA	0.468													G	197593070	T	G	197593070	3	3	45	1	0	0	0	0	1	0	0	0	8934	1667	58	5	1919	5	LRCH3	3	197593070	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	165155	197593070	429360	285	36641											
ZNF718	255403	broad.mit.edu	37	chr4	53308	53308	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgattcagccacagcctctGcctcccgttgctctgtgacc	9	16	3	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:53308G>A	uc003fzt.3	+	3	64	c.-69_splice	c.e3+1		ZNF595_uc003fzu.1_RNA|ZNF595_uc010iay.1_RNA|ZNF595_uc003fzv.1_5'UTR|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_5'UTR	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		CACAGCCTCTGCCTCCCGTTG	0.607													A	53308	G	A	53308	5	1	45	1	0	0	0	0	0	0	1	0	18117	1334	46	2		2	ZNF718	4	53308	Splice_Site	SNP	G	TCGA-BR-6852-01A-11D-1882-08		53308	191100968	286	36642											
CTBP1	1487	broad.mit.edu	37	chr4	1207290	1207290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggctctgcggatctcccGtgccgcctcctctcgcatct	10	17	4	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:1207290G>A	uc003gcv.1	-	7	1162	c.997C>T	c.(997-999)CGG>TGG	p.R333W	uc003gcs.1_Intron|CTBP1_uc003gct.1_Missense_Mutation_p.R314W|CTBP1_uc003gcu.1_Missense_Mutation_p.R322W|CTBP1_uc003gcw.2_Missense_Mutation_p.R7W	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	C-terminal binding protein 1 isoform 1	333	Interaction with GLIS2 2 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		CGGATCTCCCGTGCCGCCTCC	0.667													A	1207290	G	A	1207290	3	1	45	1	0	0	0	0	1	0	0	0	3997	1144	40	1	337	1	CTBP1	4	1207290	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1153982	1207290	189946986	287	36643											
ZFYVE28	57732	broad.mit.edu	37	chr4	2306637	2306637	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtccaggcagctgcaggagCtggtgcccgcgaggctggcc	17	13	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:2306637C>A	uc003gex.1	-	8	1749	c.1430G>T	c.(1429-1431)AGC>ATC	p.S477I	ZFYVE28_uc011bvk.1_Missense_Mutation_p.S407I|ZFYVE28_uc011bvl.1_Missense_Mutation_p.S447I|ZFYVE28_uc003gew.1_Missense_Mutation_p.S363I	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	477					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			skin(2)|ovary(1)	3						GCTGCAGGAGCTGGTGCCCGC	0.682													A	2306637	C	A	2306637	3	1	45	1	0	0	0	0	1	0	0	0	17667	797	28	5	1257	5	ZFYVE28	4	2306637	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1099347	2306637	188847639	288	36644											
AFAP1	60312	broad.mit.edu	37	chr4	7802207	7802207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccgttgcgcagcagccGgaacgtcagaggatgtttag	15	10	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:7802207G>A	uc003gkg.1	-	10	1501	c.1228C>T	c.(1228-1230)CGG>TGG	p.R410W	AFAP1_uc011bwk.1_Missense_Mutation_p.R410W	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	410	PH 2.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						CGCAGCAGCCGGAACGTCAGA	0.552													A	7802207	G	A	7802207	3	1	45	1	0	0	0	0	1	0	0	0	353	1115	39	1	1252	1	AFAP1	4	7802207	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	5495570	7802207	183352069	289	36645											
ACOX3	8310	broad.mit.edu	37	chr4	8398700	8398700	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcactggtatttcctcctcCtctgtgggtccaaactgacg	9	13	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:8398700C>A	uc010idk.2	-	9	1165	c.1020G>T	c.(1018-1020)GAG>GAT	p.E340D	ACOX3_uc003glc.3_Missense_Mutation_p.E340D|ACOX3_uc003gld.3_Missense_Mutation_p.E340D|ACOX3_uc003gle.1_Missense_Mutation_p.E245D	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	340	Poly-Glu.				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			central_nervous_system(1)	1						TTTCCTCCTCCTCTGTGGGTC	0.498													A	8398700	C	A	8398700	3	1	45	1	0	0	0	0	1	0	0	0	160	680	24	5	1122	5	ACOX3	4	8398700	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	596493	8398700	182755576	290	36646											
CPEB2	132864	broad.mit.edu	37	chr4	15063798	15063798	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatacccaaaaggtgctgggCgagttgctttctccaatcag	10	10	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:15063798C>T	uc003gni.1	+	10	1543	c.1456C>T	c.(1456-1458)CGA>TGA	p.R486*	CPEB2_uc003gnj.1_Nonsense_Mutation_p.R456*|CPEB2_uc003gnk.1_Nonsense_Mutation_p.R494*|CPEB2_uc003gnl.1_Nonsense_Mutation_p.R467*|CPEB2_uc003gnm.1_Nonsense_Mutation_p.R464*|CPEB2_uc003gnn.1_Nonsense_Mutation_p.R459*	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding	486	RRM 2.				regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1						AGGTGCTGGGCGAGTTGCTTT	0.433													T	15063798	C	T	15063798	4	4	45	1	0	0	0	0	0	1	0	0	3801	760	27	1	2842	1	CPEB2	4	15063798	Nonsense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	6665098	15063798	176090478	291	36647											
QDPR	5860	broad.mit.edu	37	chr4	17493907	17493907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgccgctgttcttcccagCcaggctctggcagagctggt	12	14	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:17493907C>T	uc003gpd.2	-	5	673	c.493G>A	c.(493-495)GCT>ACT	p.A165T	QDPR_uc003gpe.2_Missense_Mutation_p.A134T|QDPR_uc003gpf.2_Intron	NM_000320	NP_000311	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	165					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			ovary(1)	1					NADH(DB00157)	TTCTTCCCAGCCAGGCTCTGG	0.652													T	17493907	C	T	17493907	3	4	45	1	0	0	0	0	1	0	0	0	12872	739	26	2	253	2	QDPR	4	17493907	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2430109	17493907	173660369	292	36648											
KLF3	51274	broad.mit.edu	37	chr4	38690460	38690460	+	Frame_Shift_Del	DEL	A	A	-													ccttcttccagcccaccgatAaaaaaatactcacccccttc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:38690459_38690459TA>T	uc003gth.4	+	2	643	c.311_311TA>T	c.(310-312)atafs	p.I104fs	KLF3_uc003gtg.2_Frame_Shift_Del_p.I104fs	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	104	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AGCCCACCGATAAAAAAATAC	0.617													-	38690460	A	-	38690460	7	5	45	1	0	1	0	1	0	0	0	0	8347	352	13	0	318	0	KLF3	4	38690460	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	21196553	38690460	152463816	293	36649											
KLB	152831	broad.mit.edu	37	chr4	39409172	39409172	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgggatttgcctttggcActacaagaaaaatatggggg	12	7	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:39409172A>G	uc003gua.2	+	1	700	c.603A>G	c.(601-603)GCA>GCG	p.A201A	KLB_uc011byj.1_Silent_p.A201A	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	201	Extracellular (Potential).|Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						TGCCTTTGGCACTACAAGAAA	0.403													G	39409172	A	G	39409172	2	3	45	1	0	0	0	0	0	0	0	1	8332	146	6	3		3	KLB	4	39409172	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	718712	39409172	151745104	294	36650											
RPL9	6133	broad.mit.edu	37	chr4	39458044	39458044	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctggtctcatccgaacccTgcggatatatttttcaccca	6	14	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:39458044T>C	uc003gub.2	-	4	521	c.373A>G	c.(373-375)AGG>GGG	p.R125G	RPL9_uc003guc.2_Missense_Mutation_p.R125G|RPL9_uc011byk.1_RNA|RPL9_uc011byl.1_Missense_Mutation_p.R125G|LIAS_uc003gue.3_5'Flank|LIAS_uc011bym.1_5'Flank|LIAS_uc003guf.2_5'Flank|LIAS_uc003gug.2_5'Flank|LIAS_uc003guh.2_5'Flank	NM_001024921	NP_001020092	P32969	RL9_HUMAN	ribosomal protein L9	125					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|nucleolus|ribosome	rRNA binding|structural constituent of ribosome			skin(1)	1						ATCCGAACCCTGCGGATATAT	0.413													C	39458044	T	C	39458044	3	2	45	1	0	0	0	0	1	0	0	0	13603	1579	55	3	217	3	RPL9	4	39458044	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	48872	39458044	151696232	295	36651											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434713	+	In_Frame_Del	DEL	GCGGCTGCG	GCGGCTGCG	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs139347188		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:40434704_40434712AGCGGCTGCG>A	uc003gvc.2	-	5	2208_2216	c.1498_1506CGCAGCCGCT>T	c.(1498-1506)gcagccgct>T	p.AAA500del	RBM47_uc003gvd.2_In_Frame_Del_p.AAA431del|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_In_Frame_Del_p.AAA462del	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	500	Ala-rich.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TGGGAATGACAgcggctgcggcggctgcg	0.565													-	40434713	GCGGCTGCG	-	40434705	7	5	45	1	0	1	0	1	0	0	0	0	13141	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCG	TCGA-BR-6852-01A-11D-1882-08	976661	40434705	150719571	296	36652											
KCTD8	386617	broad.mit.edu	37	chr4	44450159	44450159	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggcctcgcgcagcagccgctCcttctcggggaagtgctccg	14	16	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:44450159C>A	uc003gwu.2	-	1	666	c.382G>T	c.(382-384)GAG>TAG	p.E128*		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	128						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						AGCAGCCGCTCCTTCTCGGGG	0.612										HNSCC(17;0.042)			A	44450159	C	A	44450159	4	1	45	1	0	0	0	0	0	1	0	0	8115	864	30	5	1047	5	KCTD8	4	44450159	Nonsense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	4015454	44450159	146704117	297	36653											
GUF1	60558	broad.mit.edu	37	chr4	44683221	44683221	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggttgatgcaaatgagGtaggtatttttcattttgta	11	2	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:44683221G>A	uc003gww.3	+	4	714	c.507_splice	c.e4+1	p.E169_splice	GUF1_uc010ifz.1_Splice_Site	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog						translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1						TGCAAATGAGGTAGGTATTTT	0.323													A	44683221	G	A	44683221	5	1	45	1	0	0	0	0	0	0	1	0	6899	1275	44	4	522	4	GUF1	4	44683221	Splice_Site	SNP	G	TCGA-BR-6852-01A-11D-1882-08	233062	44683221	146471055	298	36654											
GABRG1	2565	broad.mit.edu	37	chr4	46060358	46060359	+	Frame_Shift_Ins	INS	-	-	A													ccattcttctgctcaggtcaINSaaaaaaattgtcatgataac							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:46060357_46060358C>CA	uc003gxb.3	-	6	944_945	c.792_793G>TG	c.(790-795)tttgacfs	p.F264fs		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	264					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.F264fs*3(2)|p.D265Y(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CTGCTCAGGTCAAAAAAAATTG	0.297													A	46060359	-	A	46060358	7	5	45	1	0	1	1	0	0	0	0	0	6171	127	5	0	617	0	GABRG1	4	46060358	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	1377137	46060358	145093918	299	36655											
CORIN	10699	broad.mit.edu	37	chr4	47682178	47682178	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagttgacctcgtcagacTtatccacacagtcgtggtca	9	12	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:47682178T>G	uc003gxm.2	-	8	1205	c.1112A>C	c.(1111-1113)AAG>ACG	p.K371T	CORIN_uc011bzf.1_Missense_Mutation_p.K232T|CORIN_uc011bzg.1_Missense_Mutation_p.K304T|CORIN_uc011bzh.1_Intron|CORIN_uc011bzi.1_Intron|CORIN_uc003gxn.3_3'UTR	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	371	Extracellular (Potential).|LDL-receptor class A 3.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2						CTCGTCAGACTTATCCACACA	0.507													G	47682178	T	G	47682178	3	3	45	1	0	0	0	0	1	0	0	0	3752	1609	56	5	2076	5	CORIN	4	47682178	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1621820	47682178	143472098	300	36656											
FRYL	285527	broad.mit.edu	37	chr4	48544141	48544141	+	Splice_Site	DEL	G	G	-													aagctcaatcacaaatccctGgggggaaaaaggcagatttt							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:48544140_48544140TG>T	uc003gyh.1	-	45	6198	c.5593_splice	c.e45-1	p.G1865_splice	FRYL_uc003gyg.1_Splice_Site_p.G561_splice|FRYL_uc003gyi.1_Splice_Site_p.G753_splice|FRYL_uc003gyj.1_Splice_Site_p.G160_splice	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1865					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CACAAATCCCTGGGGGGAAAA	0.363													-	48544141	G	-	48544141	8	5	45	1	0	1	0	1	0	0	1	0	6064	1363	47	0		0	FRYL	4	48544141	Splice_Site	DEL	G	TCGA-BR-6852-01A-11D-1882-08	861963	48544141	142610135	301	36657											
TECRL	253017	broad.mit.edu	37	chr4	65170906	65170906	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgtatatagtggatgAttaatgtagtaggcaatcca	13	3	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:65170906A>G	uc003hcv.2	-	7	817	c.708T>C	c.(706-708)AAT>AAC	p.N236N	TECRL_uc003hcw.2_Silent_p.N236N	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	236	Helical; (Potential).				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0						ATAGTGGATGATTAATGTAGT	0.299													G	65170906	A	G	65170906	2	3	45	1	0	0	0	0	0	0	0	1	15743	330	12	3		3	TECRL	4	65170906	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	16626765	65170906	125983370	302	36658											
UBA6	55236	broad.mit.edu	37	chr4	68536191	68536191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattaatataatcatacttgCgttatgtttgaaatgaaaat	5	4	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:68536191C>T	uc003hdg.3	-	8	718	c.666G>A	c.(664-666)ACG>ACA	p.T222T	UBA6_uc003hdi.2_Silent_p.T222T|UBA6_uc003hdj.2_Silent_p.T222T	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	222					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0						ATCATACTTGCGTTATGTTTG	0.299													T	68536191	C	T	68536191	2	4	45	1	0	0	0	0	0	0	0	1	16829	755	27	1		1	UBA6	4	68536191	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3365285	68536191	122618085	303	36659											
YTHDC1	91746	broad.mit.edu	37	chr4	69182091	69182091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgatgtcctgagtaaggggGatgagcttgaggaggtggag	19	3	0	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:69182091G>A	uc003hdx.2	-	16	2253	c.1900C>T	c.(1900-1902)CCC>TCC	p.P634S	YTHDC1_uc003hdy.2_Missense_Mutation_p.P616S	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	634	Pro-rich.									upper_aerodigestive_tract(1)|ovary(1)	2						GAGTAAGGGGGATGAGCTTGA	0.463													A	69182091	G	A	69182091	3	1	45	1	0	0	0	0	1	0	0	0	17493	1174	41	4	291	4	YTHDC1	4	69182091	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	645900	69182091	121972185	304	36660											
MUC7	4589	broad.mit.edu	37	chr4	71346631	71346631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgctagctcaccagaagcCgttcattagaaagtcctata	7	11	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:71346631C>T	uc011cat.1	+	4	458	c.170C>T	c.(169-171)CCG>CTG	p.P57L	MUC7_uc011cau.1_Missense_Mutation_p.P57L|MUC7_uc003hfj.2_Missense_Mutation_p.P57L|uc011cav.1_RNA	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	57						extracellular region	protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4			Lung(101;0.211)			CACCAGAAGCCGTTCATTAGA	0.458													T	71346631	C	T	71346631	3	4	45	1	0	0	0	0	1	0	0	0	9981	652	23	1	176	1	MUC7	4	71346631	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2164540	71346631	119807645	305	36661											
ADAMTS3	9508	broad.mit.edu	37	chr4	73414328	73414328	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggttgatggttgttaAtgggatcggttatattccca	11	6	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:73414328A>G	uc003hgk.1	-	3	408	c.371T>C	c.(370-372)ATT>ACT	p.I124T		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	124					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGGTTGTTAATGGGATCGGT	0.483													G	73414328	A	G	73414328	3	3	45	1	0	0	0	0	1	0	0	0	267	101	4	3	3326	3	ADAMTS3	4	73414328	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	2067697	73414328	117739948	306	36662											
FRAS1	80144	broad.mit.edu	37	chr4	79400796	79400796	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaagggtggcgacagccaaGgtgctcattagtggtcccaa	15	9	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:79400796G>T	uc003hlb.2	+	56	8807	c.8367G>T	c.(8365-8367)AAG>AAT	p.K2789N		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2784	Calx-beta 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						CGACAGCCAAGGTGCTCATTA	0.522													T	79400796	G	T	79400796	3	4	45	1	0	0	0	0	1	0	0	0	6042	991	35	5	8664	5	FRAS1	4	79400796	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	5986468	79400796	111753480	307	36663											
FAM175A	84142	broad.mit.edu	37	chr4	84391425	84391425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctgttattatacttggtGttaatagcagaaaaacaagg	8	4	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:84391425G>A	uc003hou.2	-	5	472	c.407C>T	c.(406-408)ACA>ATA	p.T136I	FAM175A_uc003hot.2_5'Flank|FAM175A_uc003hov.2_Missense_Mutation_p.T27I	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN	coiled-coil domain containing 98	136					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			kidney(1)	1						TATACTTGGTGTTAATAGCAG	0.393													A	84391425	G	A	84391425	3	1	45	1	0	0	0	0	1	0	0	0	5497	1377	48	4	842	4	FAM175A	4	84391425	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	4990629	84391425	106762851	308	36664											
FAM13A	10144	broad.mit.edu	37	chr4	89950632	89950632	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgctgcgtcaaatattccaCtatattccacactactgctg	5	12	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:89950632C>G	uc003hse.1	-	2	404	c.196G>C	c.(196-198)GTG>CTG	p.V66L	FAM13A_uc003hsf.1_5'UTR|FAM13A_uc003hsh.1_5'UTR|FAM13A_uc003hsi.2_Missense_Mutation_p.V66L|FAM13A_uc003hsj.2_Missense_Mutation_p.V66L	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	66	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						AAATATTCCACTATATTCCAC	0.393													G	89950632	C	G	89950632	3	3	45	1	0	0	0	0	1	0	0	0	5452	565	20	5	3000	5	FAM13A	4	89950632	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	5559207	89950632	101203644	309	36665											
GPRIN3	285513	broad.mit.edu	37	chr4	90170138	90170138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcctggggggctagcgtgCtgtcagagagctccagtgtg	16	10	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:90170138C>T	uc003hsm.1	-	2	1643	c.1124G>A	c.(1123-1125)AGC>AAC	p.S375N		NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	375										ovary(3)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GGCTAGCGTGCTGTCAGAGAG	0.562													T	90170138	C	T	90170138	3	4	45	1	0	0	0	0	1	0	0	0	6731	797	28	2	1210	2	GPRIN3	4	90170138	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	219506	90170138	100984138	310	36666											
NHEDC1	150159	broad.mit.edu	37	chr4	103866441	103866441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataaggcatggacctacagCcaatctgaaacaaacgacct	7	12	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:103866441C>T	uc003hww.2	-	6	684	c.562G>A	c.(562-564)GCT>ACT	p.A188T	NHEDC1_uc003hwu.2_Missense_Mutation_p.A188T|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Intron	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	188	Helical; (Potential).					integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)		GGACCTACAGCCAATCTGAAA	0.383													T	103866441	C	T	103866441	3	4	45	1	0	0	0	0	1	0	0	0	10400	739	26	2	1113	2	NHEDC1	4	103866441	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	13696303	103866441	87287835	311	36667											
NPNT	255743	broad.mit.edu	37	chr4	106888380	106888380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtcggcagccaaagccCcagggggaaaagctgcacgc	14	13	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:106888380C>T	uc003hya.2	+	11	1586	c.1381C>T	c.(1381-1383)CCA>TCA	p.P461S	NPNT_uc011cfc.1_Missense_Mutation_p.P478S|NPNT_uc011cfd.1_Missense_Mutation_p.P491S|NPNT_uc011cfe.1_Missense_Mutation_p.P462S|NPNT_uc010ilt.1_Missense_Mutation_p.P432S|NPNT_uc011cff.1_Missense_Mutation_p.P432S|NPNT_uc010ilu.1_Intron	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	461	MAM.				cell differentiation	membrane	calcium ion binding			skin(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AGCCAAAGCCCCAGGGGGAAA	0.562													T	106888380	C	T	106888380	3	4	45	1	0	0	0	0	1	0	0	0	10590	623	22	4	1572	4	NPNT	4	106888380	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3021939	106888380	84265896	312	36668											
ALPK1	80216	broad.mit.edu	37	chr4	113346862	113346862	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtgacaaggtcctggtgCagtcggtctgtatacagatc	12	8	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:113346862C>T	uc003iap.3	+	7	856	c.577C>T	c.(577-579)CAG>TAG	p.Q193*	ALPK1_uc011cfw.1_RNA|ALPK1_uc003ian.3_Nonsense_Mutation_p.Q193*|ALPK1_uc011cfx.1_Nonsense_Mutation_p.Q115*|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_5'UTR	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	193							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GGTCCTGGTGCAGTCGGTCTG	0.403													T	113346862	C	T	113346862	4	4	45	1	0	0	0	0	0	1	0	0	544	711	25	2	595	2	ALPK1	4	113346862	Nonsense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	6458482	113346862	77807414	313	36669											
LARP7	51574	broad.mit.edu	37	chr4	113567814	113567814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaaaggatgaggatgaacGcacagtgtatgtggtaagct	13	6	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:113567814G>A	uc003iay.2	+	4	652	c.374G>A	c.(373-375)CGC>CAC	p.R125H	LARP7_uc003iaz.2_Missense_Mutation_p.R132H|LARP7_uc003iba.2_Missense_Mutation_p.R46H|LARP7_uc003ibb.2_Missense_Mutation_p.R125H	NM_016648	NP_057732	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	125	RRM.				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(3)	3		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		GAGGATGAACGCACAGTGTAT	0.363													A	113567814	G	A	113567814	3	1	45	1	0	0	0	0	1	0	0	0	8633	1087	38	1	384	1	LARP7	4	113567814	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	220952	113567814	77586462	314	36670											
ANK2	287	broad.mit.edu	37	chr4	114280135	114280135	+	Frame_Shift_Del	DEL	G	G	-													aagcactacatcttcctgcaGggggggcacgagccccacaa							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:114280134_114280134AG>A	uc003ibe.4	+	37	10460	c.10360_10360AG>A	c.(10360-10362)aggfs	p.R3454fs	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Frame_Shift_Del_p.R3469fs	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3421					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R3454S(1)|p.T3457fs*8(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTTCCTGCAGGGGGGGCAC	0.458													-	114280135	G	-	114280135	7	5	45	1	0	1	0	1	0	0	0	0	621	1000	35	0	10576	0	ANK2	4	114280135	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	712321	114280135	76874141	315	36671											
NDST3	9348	broad.mit.edu	37	chr4	119163293	119163293	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctcattataattactcAgaagctttaacgtaagttta	5	7	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:119163293A>C	uc003ibx.2	+	12	2791	c.2388A>C	c.(2386-2388)TCA>TCC	p.S796S		NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	796	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						ATAATTACTCAGAAGCTTTAA	0.338													C	119163293	A	C	119163293	2	2	45	1	0	0	0	0	0	0	0	1	10257	175	7	5		5	NDST3	4	119163293	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	4883158	119163293	71990983	316	36672											
TNIP3	79931	broad.mit.edu	37	chr4	122062982	122062982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacttactgggtgctcccGttgcttctgcacagctccag	9	14	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:122062982G>A	uc010ing.2	-	9	1070	c.874C>T	c.(874-876)CGG>TGG	p.R292W	TNIP3_uc010inh.2_Missense_Mutation_p.R292W|TNIP3_uc011cgj.1_Missense_Mutation_p.R350W	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	292										ovary(1)	1						GGGTGCTCCCGTTGCTTCTGC	0.448													A	122062982	G	A	122062982	3	1	45	1	0	0	0	0	1	0	0	0	16313	1144	40	1	115	1	TNIP3	4	122062982	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2899689	122062982	69091294	317	36673											
KIAA1109	84162	broad.mit.edu	37	chr4	123107276	123107276	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggatctttatggacgcctTcaagagttgtttggtttgga	12	6	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:123107276T>C	uc003ieh.2	+	5	489	c.444T>C	c.(442-444)CTT>CTC	p.L148L	KIAA1109_uc003iei.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	148					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ATGGACGCCTTCAAGAGTTGT	0.373													C	123107276	T	C	123107276	2	2	45	1	0	0	0	0	0	0	0	1	8208	1770	62	3		3	KIAA1109	4	123107276	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1044294	123107276	68047000	318	36674											
KIAA1109	84162	broad.mit.edu	37	chr4	123275094	123275094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caataaccaagataacaaggCgtcgccatgaaaatccaccc	6	13	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:123275094C>T	uc003ieh.2	+	80	14272	c.14227C>T	c.(14227-14229)CGT>TGT	p.R4743C	KIAA1109_uc003iem.2_Missense_Mutation_p.R1099C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4743					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						GATAACAAGGCGTCGCCATGA	0.393													T	123275094	C	T	123275094	3	4	45	1	0	0	0	0	1	0	0	0	8208	768	27	1	14545	1	KIAA1109	4	123275094	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	167818	123275094	67879182	319	36675											
SPATA5	166378	broad.mit.edu	37	chr4	123868515	123868515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcccaatgctcaggaccGgctagatattctccagaaac	8	12	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:123868515G>A	uc003iez.3	+	9	1659	c.1586G>A	c.(1585-1587)CGG>CAG	p.R529Q	SPATA5_uc003iey.2_Missense_Mutation_p.R528Q	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	529					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0						GCTCAGGACCGGCTAGATATT	0.522													A	123868515	G	A	123868515	3	1	45	1	0	0	0	0	1	0	0	0	15010	1116	39	1	1620	1	SPATA5	4	123868515	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	593421	123868515	67285761	320	36676											
PCDH18	54510	broad.mit.edu	37	chr4	138451730	138451730	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctagaataaaactctccaAgatggtgtatgtcacttgcc	7	10	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:138451730A>G	uc003ihe.3	-	1	1900	c.1513T>C	c.(1513-1515)TTG>CTG	p.L505L	PCDH18_uc003ihf.3_Silent_p.L498L|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Silent_p.L285L|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	505	Extracellular (Potential).|Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					AAACTCTCCAAGATGGTGTAT	0.393													G	138451730	A	G	138451730	2	3	45	1	0	0	0	0	0	0	0	1	11513	69	3	3		3	PCDH18	4	138451730	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	14583215	138451730	52702546	321	36677											
MGST2	4258	broad.mit.edu	37	chr4	140624683	140624683	+	Frame_Shift_Del	DEL	A	A	-													ggggatattcagaagctgctAaaaaacggtaaggagaaccc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:140624682_140624682TA>T	uc003ihy.3	+	3	555	c.303_303TA>T	c.(301-303)gctfs	p.A101fs	MGST2_uc021xsf.1_Frame_Shift_Del_p.A101fs|MGST2_uc010ioi.1_Frame_Shift_Del_p.A33fs|MGST2_uc021xse.1_Frame_Shift_Del_p.*78fs	NM_002413	NP_001191296	Q99735	MGST2_HUMAN	Homo sapiens microsomal glutathione S-transferase 2 (MGST2), transcript variant 1, mRNA.	101			A -> V (in dbSNP:rs8192111).		glutathione biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane|plasma membrane	enzyme activator activity|glutathione peroxidase activity|glutathione transferase activity|leukotriene-C4 synthase activity			lung(1)|ovary(1)	2	all_hematologic(180;0.162)				Glutathione(DB00143)	CAGAAGCTGCTAAAAAACGGT	0.408													-	140624683	A	-	140624683	7	5	45	1	0	1	0	1	0	0	0	0	9561	363	13	0	318	0	MGST2	4	140624683	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	2172953	140624683	50529593	322	36678											
POU4F2	5458	broad.mit.edu	37	chr4	147561442	147561442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgctcagcatggcccacGcgcacgggctgccgtcgcac	13	18	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:147561442G>A	uc003ikv.2	+	2	960	c.712G>A	c.(712-714)GCG>ACG	p.A238T		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	238					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)	1	all_hematologic(180;0.151)					CATGGCCCACGCGCACGGGCT	0.697													A	147561442	G	A	147561442	3	1	45	1	0	0	0	0	1	0	0	0	12279	1087	38	1	718	1	POU4F2	4	147561442	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	6936759	147561442	43592834	323	36679											
EDNRA	1909	broad.mit.edu	37	chr4	148461084	148461084	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtataacgagatggacaagaAccgatgtgaattacttaggt	11	5	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:148461084A>C	uc003iky.2	+	6	1708	c.1016A>C	c.(1015-1017)AAC>ACC	p.N339T	EDNRA_uc011cid.1_Missense_Mutation_p.N114T|EDNRA_uc010ipf.1_RNA|EDNRA_uc010ipg.1_Missense_Mutation_p.N230T	NM_001957	NP_001948	P25101	EDNRA_HUMAN	endothelin receptor type A isoform a precursor	339	Extracellular (Potential).				activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)|breast(1)	2	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	ATGGACAAGAACCGATGTGAA	0.343													C	148461084	A	C	148461084	3	2	45	1	0	0	0	0	1	0	0	0	4919	43	2	5	1034	5	EDNRA	4	148461084	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	899642	148461084	42693192	324	36680											
FBXW7	55294	broad.mit.edu	37	chr4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgaagatgcatacaacGcacagtggaagtatgcccat	9	9	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:153249385G>A	uc003ims.2	-	9	1542	c.1393C>T	c.(1393-1395)CGT>TGT	p.R465C	FBXW7_uc011cii.1_Missense_Mutation_p.R465C|FBXW7_uc003imt.2_Missense_Mutation_p.R465C|FBXW7_uc011cih.1_Missense_Mutation_p.R289C|FBXW7_uc003imq.2_Missense_Mutation_p.R385C|FBXW7_uc003imr.2_Missense_Mutation_p.R347C	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	465	WD 3.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in a acute lymphoblastic leukemia cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R465C(52)|p.R465H(36)|p.R465L(2)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413			Mis|N|D|F		colorectal|endometrial|T-ALL								A	153249385	G	A	153249385	3	1	45	1	0	0	0	0	1	0	0	0	5769	1087	38	1	746	1	FBXW7	4	153249385	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	4788301	153249385	37904891	325	36681											
TLR2	7097	broad.mit.edu	37	chr4	154625775	154625775	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctccatcccatgtgcgtggCcagcaggttcaggatgtccg	12	13	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:154625775C>A	uc003inq.2	+	3	1935	c.1716C>A	c.(1714-1716)GGC>GGA	p.G572G	TLR2_uc003inr.2_Silent_p.G572G|TLR2_uc003ins.2_Silent_p.G572G	NM_003264	NP_003255	O60603	TLR2_HUMAN	toll-like receptor 2 precursor	572	Extracellular (Potential).				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			ovary(1)|lung(1)|breast(1)	3	all_hematologic(180;0.093)	Renal(120;0.117)				ATGTGCGTGGCCAGCAGGTTC	0.552													A	154625775	C	A	154625775	2	1	45	1	0	0	0	0	0	0	0	1	15948	726	26	5		5	TLR2	4	154625775	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1376390	154625775	36528501	326	36682											
PLRG1	5356	broad.mit.edu	37	chr4	155458569	155458569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacccaggttgcacagctgCgtgaactctctgaaaattgt	10	10	1	3	rs144644967	byFrequency	TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:155458569C>T	uc003iny.2	-	14	1417	c.1354G>A	c.(1354-1356)GCA>ACA	p.A452T	PLRG1_uc003inz.2_Missense_Mutation_p.A443T	NM_002669	NP_002660	O43660	PLRG1_HUMAN	pleiotropic regulator 1 (PRL1 homolog,	452						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity				0	all_hematologic(180;0.215)	Renal(120;0.0854)				TGCACAGCTGCGTGAACTCTC	0.438													T	155458569	C	T	155458569	3	4	45	1	0	0	0	0	1	0	0	0	12106	768	27	1	198	1	PLRG1	4	155458569	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	832794	155458569	35695707	327	36683											
PLRG1	5356	broad.mit.edu	37	chr4	155459192	155459192	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cattatgaccggaaagatttTgaatgaaacttccatcaggg	9	7	1	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:155459192T>A	uc003iny.2	-	13	1283	c.1220A>T	c.(1219-1221)CAA>CTA	p.Q407L	PLRG1_uc003inz.2_Missense_Mutation_p.Q398L	NM_002669	NP_002660	O43660	PLRG1_HUMAN	pleiotropic regulator 1 (PRL1 homolog,	407	WD 5.					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity				0	all_hematologic(180;0.215)	Renal(120;0.0854)				GGAAAGATTTTGAATGAAACT	0.303													A	155459192	T	A	155459192	3	1	45	1	0	0	0	0	1	0	0	0	12106	1812	63	5	336	5	PLRG1	4	155459192	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	623	155459192	35695084	328	36684											
TLL1	7092	broad.mit.edu	37	chr4	166964495	166964495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattatcctgatgactatcGcccgatgaaagaatgtgtgt	9	8	0	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:166964495G>A	uc003irh.1	+	12	2095	c.1448G>A	c.(1447-1449)CGC>CAC	p.R483H	TLL1_uc011cjn.1_Missense_Mutation_p.R483H|TLL1_uc011cjo.1_Missense_Mutation_p.R307H	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	483	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GATGACTATCGCCCGATGAAA	0.418													A	166964495	G	A	166964495	3	1	45	1	0	0	0	0	1	0	0	0	15942	1087	38	1	1494	1	TLL1	4	166964495	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	11505303	166964495	24189781	329	36685											
CLCN3	1182	broad.mit.edu	37	chr4	170634343	170634343	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cattgaagcttcgaagcattCttgacatgagcccttttaca	7	10	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:170634343C>A	uc003isi.2	+	12	2772	c.2263C>A	c.(2263-2265)CTT>ATT	p.L755I	CLCN3_uc003ish.2_Missense_Mutation_p.L755I|CLCN3_uc011cjz.1_Missense_Mutation_p.L738I|CLCN3_uc011cka.1_Missense_Mutation_p.L728I|CLCN3_uc003isj.1_Missense_Mutation_p.L728I	NM_001829	NP_001820	P51790	CLCN3_HUMAN	chloride channel 3 isoform b	755	CBS 2.|Cytoplasmic (By similarity).				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TCGAAGCATTCTTGACATGAG	0.493													A	170634343	C	A	170634343	3	1	45	1	0	0	0	0	1	0	0	0	3464	913	32	5	2305	5	CLCN3	4	170634343	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3669848	170634343	20519933	330	36686											
HELT	391723	broad.mit.edu	37	chr4	185941701	185941701	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgaggccgctgtgttcccGcagggctctggtgccgggcc	18	14	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:185941701G>A	uc011ckq.1	+	4	759	c.759G>A	c.(757-759)CCG>CCA	p.P253P	HELT_uc011cko.1_Silent_p.P168P|HELT_uc003ixa.3_Silent_p.P167P|HELT_uc011ckp.1_Silent_p.P111P	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	HES/HEY-like transcription factor	253	Pro-rich.						DNA binding				0		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CTGTGTTCCCGCAGGGCTCTG	0.746													A	185941701	G	A	185941701	2	1	45	1	0	0	0	0	0	0	0	1	7048	1074	38	1		1	HELT	4	185941701	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	15307358	185941701	5212575	331	36687											
HELT	391723	broad.mit.edu	37	chr4	185941780	185941780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccctacctgcccagcgcgCcagtgccgctcgctagccca	10	20	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr4:185941780C>T	uc011ckq.1	+	4	838	c.838C>T	c.(838-840)CCA>TCA	p.P280S	HELT_uc011cko.1_Missense_Mutation_p.P195S|HELT_uc003ixa.3_Missense_Mutation_p.P194S|HELT_uc011ckp.1_Missense_Mutation_p.P138S	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	HES/HEY-like transcription factor	280	Pro-rich.						DNA binding				0		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GCCCAGCGCGCCAGTGCCGCT	0.746													T	185941780	C	T	185941780	3	4	45	1	0	0	0	0	1	0	0	0	7048	739	26	2	852	2	HELT	4	185941780	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	79	185941780	5212496	332	36688											
PAPD7	11044	broad.mit.edu	37	chr5	6739961	6739961	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcaaagtccttgacaaggCtacggtgagtgcctggcttt	11	10	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:6739961C>A	uc003jdx.1	+	4	383	c.254C>A	c.(253-255)GCT>GAT	p.A85D	PAPD7_uc011cmn.1_Missense_Mutation_p.A76D	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	85					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			ovary(1)	1						CTTGACAAGGCTACGGTGAGT	0.582													A	6739961	C	A	6739961	3	1	45	1	0	0	0	0	1	0	0	0	11426	797	28	5	264	5	PAPD7	5	6739961	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08		6739961	174175299	333	36689											
CTNND2	1501	broad.mit.edu	37	chr5	11364852	11364852	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgctggcggcagagggTccccctggctctggctgaga	17	11	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:11364852T>C	uc003jfa.1	-	8	1473	c.1328A>G	c.(1327-1329)GAC>GGC	p.D443G	CTNND2_uc010itt.2_Missense_Mutation_p.D352G|CTNND2_uc011cmy.1_Missense_Mutation_p.D106G|CTNND2_uc011cmz.1_Missense_Mutation_p.D10G|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.D10G	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	443				D -> V (in Ref. 1; AAC63103).	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						CGGCAGAGGGTCCCCCTGGCT	0.637													C	11364852	T	C	11364852	3	2	45	1	0	0	0	0	1	0	0	0	4020	1667	58	3	2409	3	CTNND2	5	11364852	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	4624891	11364852	169550408	334	36690											
DNAH5	1767	broad.mit.edu	37	chr5	13766156	13766156	+	Frame_Shift_Del	DEL	T	T	-													ccaggagggcatggtacagcTtttttccaggtcaattttca							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:13766155_13766155CT>C	uc003jfd.2	-	58	10073	c.10031_10031AG>G	c.(10030-10032)agcfs	p.S3344fs	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3344	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CATGGTACAGCTTTTTTCCAG	0.483									Kartagener syndrome				-	13766156	T	-	13766156	7	5	45	1	0	1	0	1	0	0	0	0	4604	1609	56	0	3928	0	DNAH5	5	13766156	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	2401304	13766156	167149104	335	36691											
DNAH5	1767	broad.mit.edu	37	chr5	13817727	13817727	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagtcatttgtggcaacGtccagccgaccaaacatctg	9	13	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:13817727G>A	uc003jfd.2	-	42	6960	c.6918C>T	c.(6916-6918)GAC>GAT	p.D2306D		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2306	AAA 2 (By similarity).				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)					TTGTGGCAACGTCCAGCCGAC	0.393									Kartagener_syndrome				A	13817727	G	A	13817727	2	1	45	1	0	0	0	0	0	0	0	1	4604	1136	40	1		1	DNAH5	5	13817727	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	51571	13817727	167097533	336	36692											
DNAH5	1767	broad.mit.edu	37	chr5	13923470	13923470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccagtaagagccacatcGtttccctcggtcacgaacac	7	16	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:13923470G>A	uc003jfd.2	-	4	399	c.357C>T	c.(355-357)AAC>AAT	p.N119N	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	119	Stem (By similarity).				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)					GAGCCACATCGTTTCCCTCGG	0.453									Kartagener_syndrome				A	13923470	G	A	13923470	2	1	45	1	0	0	0	0	0	0	0	1	4604	1136	40	1		1	DNAH5	5	13923470	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	105743	13923470	166991790	337	36693											
FBXL7	23194	broad.mit.edu	37	chr5	15500764	15500764	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatggagtgtcccgggagaCggcgggcatgacggctacag	17	10	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:15500764C>T	uc003jfn.1	+	1	460	c.-21C>T	c.(-23--19)GACGG>GATGG			NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7						ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						TCCCGGGAGACGGCGGGCATG	0.687													T	15500764	C	T	15500764	1	4	45	1	0	0	0	0	0	0	0	0	5724	551	19	1		1	FBXL7	5	15500764	Translation_Start_Site	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1577294	15500764	165414496	338	36694											
FBXL7	23194	broad.mit.edu	37	chr5	15936751	15936751	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgccgctgcgtccgccTgaccgacgaaggcctgcgct	13	18	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:15936751T>C	uc003jfn.1	+	4	1413	c.932T>C	c.(931-933)CTG>CCG	p.L311P		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	311	LRR 6.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						TGCGTCCGCCTGACCGACGAA	0.662													C	15936751	T	C	15936751	3	2	45	1	0	0	0	0	1	0	0	0	5724	1580	55	3	946	3	FBXL7	5	15936751	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	435987	15936751	164978509	339	36695											
MYO10	4651	broad.mit.edu	37	chr5	16672919	16672919	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccatggccaggcctcggaTcagcttctccaccacctgga	9	17	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:16672919T>C	uc003jft.3	-	37	5656	c.5188A>G	c.(5188-5190)ATC>GTC	p.I1730V	MYO10_uc011cnb.1_Missense_Mutation_p.I359V|MYO10_uc011cnc.1_Missense_Mutation_p.I609V|MYO10_uc011cnd.1_Missense_Mutation_p.I1087V|MYO10_uc011cne.1_Missense_Mutation_p.I1087V|MYO10_uc010itx.2_Missense_Mutation_p.I1352V	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1730	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						AGGCCTCGGATCAGCTTCTCC	0.557													C	16672919	T	C	16672919	3	2	45	1	0	0	0	0	1	0	0	0	10062	1435	50	3	1008	3	MYO10	5	16672919	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	736168	16672919	164242341	340	36696											
MYO10	4651	broad.mit.edu	37	chr5	16701393	16701393	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgggcaccaccgtgtcGttcatgtatgggtcctcctc	12	13	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:16701393G>A	uc003jft.3	-	25	3579	c.3111C>T	c.(3109-3111)AAC>AAT	p.N1037N	MYO10_uc011cnc.1_5'Flank|MYO10_uc011cnd.1_Silent_p.N394N|MYO10_uc011cne.1_Silent_p.N394N|MYO10_uc010itx.2_Silent_p.N660N	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1037					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						CCACCGTGTCGTTCATGTATG	0.637													A	16701393	G	A	16701393	2	1	45	1	0	0	0	0	0	0	0	1	10062	1136	40	1		1	MYO10	5	16701393	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	28474	16701393	164213867	341	36697											
CDH10	1008	broad.mit.edu	37	chr5	24509929	24509929	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctctcatagtcgagtggCtgtataaaaaaataaatcat	8	7	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:24509929C>T	uc003jgr.1	-	7	1335	c.1003_splice	c.e7-1	p.P335_splice	CDH10_uc011cnu.1_Splice_Site	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		AGTCGAGTGGCTGTATAAAAA	0.368										HNSCC(23;0.051)			T	24509929	C	T	24509929	5	4	45	1	0	0	0	0	0	0	1	0	3096	811	28	2	1388	2	CDH10	5	24509929	Splice_Site	SNP	C	TCGA-BR-6852-01A-11D-1882-08	7808536	24509929	156405331	342	36698											
PDZD2	23037	broad.mit.edu	37	chr5	31983446	31983446	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgaaccagaaagtttggggTcatctccaggcctcctgcca	10	13	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:31983446T>C	uc003jhl.2	+	3	1050	c.662T>C	c.(661-663)GTC>GCC	p.V221A	PDZD2_uc003jhm.2_Missense_Mutation_p.V221A|PDZD2_uc011cnx.1_Missense_Mutation_p.V47A	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	221					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						AAGTTTGGGGTCATCTCCAGG	0.567													C	31983446	T	C	31983446	3	2	45	1	0	0	0	0	1	0	0	0	11701	1667	58	3	668	3	PDZD2	5	31983446	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	7473517	31983446	148931814	343	36699											
RXFP3	51289	broad.mit.edu	37	chr5	33937788	33937788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccggaggacgcccgaccGgagccagcgcccggagactg	16	15	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:33937788G>A	uc003jic.1	+	1	1300	c.943G>A	c.(943-945)GGA>AGA	p.G315R		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	315	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						ACGCCCGACCGGAGCCAGCGC	0.647													A	33937788	G	A	33937788	3	1	45	1	0	0	0	0	1	0	0	0	13761	1117	39	1	945	1	RXFP3	5	33937788	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1954342	33937788	146977472	344	36700											
DNAJC21	134218	broad.mit.edu	37	chr5	34945873	34945874	+	Frame_Shift_Ins	INS	-	-	A													atttgctcttaggctttctaINSaaaaacagaagaaaaagaaa							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:34945872_34945873T>TA	uc003jjb.3	+	8	1376_1377	c.1149_1150T>TA	c.(1147-1152)tctaaafs	p.S383fs	DNAJC21_uc003jjc.3_Frame_Shift_Ins_p.S383fs|DNAJC21_uc010iuu.1_Frame_Shift_Ins_p.S280fs|DNAJC21_uc003jjd.3_Non-coding_Transcript	NM_194283	NP_919259	Q5F1R6	DJC21_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21 (DNAJC21), transcript variant 1, mRNA.	383					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	p.Q386fs*52(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TTAGGCTTTCTAAAAAACAGAA	0.307													A	34945874	-	A	34945873	7	5	45	1	0	1	1	0	0	0	0	0	4640	363	13	0	1184	0	DNAJC21	5	34945873	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	1008085	34945873	145969387	345	36701											
NIPBL	25836	broad.mit.edu	37	chr5	37045628	37045628	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acaaaccagcacttcttagaTcccttttcaccgttggagca	6	13	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:37045628T>A	uc003jkl.3	+	37	6926	c.6427T>A	c.(6427-6429)TCC>ACC	p.S2143T	NIPBL_uc003jkk.3_Missense_Mutation_p.S2143T	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	2143					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACTTCTTAGATCCCTTTTCAC	0.348													A	37045628	T	A	37045628	3	1	45	1	0	0	0	0	1	0	0	0	10428	1435	50	5	6569	5	NIPBL	5	37045628	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	2099755	37045628	143869632	346	36702											
HEATR7B2	133558	broad.mit.edu	37	chr5	41004956	41004956	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgttggagtcccaggcacTttgatccatcaagatcagca	11	11	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:41004956T>C	uc003jmj.3	-	36	4421	c.3931A>G	c.(3931-3933)AGT>GGT	p.S1311G	HEATR7B2_uc003jmi.3_Missense_Mutation_p.S866G	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1311							binding			ovary(6)|central_nervous_system(2)	8						TCCCAGGCACTTTGATCCATC	0.512													C	41004956	T	C	41004956	3	2	45	1	0	0	0	0	1	0	0	0	7035	1609	56	3	854	3	HEATR7B2	5	41004956	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	3959328	41004956	139910304	347	36703											
HEATR7B2	133558	broad.mit.edu	37	chr5	41018858	41018858	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catggtcttcagaagttttcCtagggcgtccatggatcgtt	11	9	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:41018858C>A	uc003jmj.3	-	26	3098	c.2608G>T	c.(2608-2610)GGA>TGA	p.G870*	HEATR7B2_uc003jmi.3_Nonsense_Mutation_p.G425*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	870							binding			ovary(6)|central_nervous_system(2)	8						AGAAGTTTTCCTAGGGCGTCC	0.448													A	41018858	C	A	41018858	4	1	45	1	0	0	0	0	0	1	0	0	7035	690	24	5	2217	5	HEATR7B2	5	41018858	Nonsense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	13902	41018858	139896402	348	36704											
C6	729	broad.mit.edu	37	chr5	41160334	41160334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagtccctgagagggtggGtcggccattattagggcatg	15	8	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:41160334G>A	uc003jmk.2	-	11	1804	c.1594C>T	c.(1594-1596)CCC>TCC	p.P532S	C6_uc003jml.1_Missense_Mutation_p.P532S	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	532	EGF-like.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GAGAGGGTGGGTCGGCCATTA	0.483													A	41160334	G	A	41160334	3	1	45	1	0	0	0	0	1	0	0	0	2315	1261	44	4	1242	4	C6	5	41160334	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	141476	41160334	139754926	349	36705											
HCN1	348980	broad.mit.edu	37	chr5	45303873	45303873	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcatggcagtcacaaaAttaggatccgcattagcaaa	8	10	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:45303873A>C	uc003jok.2	-	6	1471	c.1446T>G	c.(1444-1446)AAT>AAG	p.N482K		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	482	cAMP.|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						CAGTCACAAAATTAGGATCCG	0.383													C	45303873	A	C	45303873	3	2	45	1	0	0	0	0	1	0	0	0	6996	98	4	5	1238	5	HCN1	5	45303873	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	4143539	45303873	135611387	350	36706											
ANKRD55	79722	broad.mit.edu	37	chr5	55471990	55471990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcagtaccaggtaggtggCcaggcataaacttgtgcggc	14	9	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:55471990C>T	uc003jqu.2	-	4	453	c.301G>A	c.(301-303)GCC>ACC	p.A101T		NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	100	ANK 3.									skin(1)	1		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				AGGTAGGTGGCCAGGCATAAA	0.532													T	55471990	C	T	55471990	3	4	45	1	0	0	0	0	1	0	0	0	681	739	26	2	1579	2	ANKRD55	5	55471990	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	10168117	55471990	125443270	351	36707											
MAP3K1	4214	broad.mit.edu	37	chr5	56168713	56168713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgcacagcagcaaaccGtacagcagcagcctttggct	11	13	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:56168713G>A	uc003jqw.3	+	9	2068	c.1567G>A	c.(1567-1569)GTA>ATA	p.V523I		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	523					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GCAGCAAACCGTACAGCAGCA	0.413													A	56168713	G	A	56168713	3	1	45	1	0	0	0	0	1	0	0	0	9243	1145	40	1	1601	1	MAP3K1	5	56168713	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	696723	56168713	124746547	352	36708											
HTR1A	3350	broad.mit.edu	37	chr5	63256881	63256881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttgcggatgcggaagcgCgcagctcggaatatgcgccc	15	12	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:63256881C>T	uc011cqt.1	-	1	666	c.666G>A	c.(664-666)GCG>GCA	p.A222A		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	222	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGCGGAAGCGCGCAGCTCGGA	0.562													T	63256881	C	T	63256881	2	4	45	1	0	0	0	0	0	0	0	1	7436	755	27	1		1	HTR1A	5	63256881	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	7088168	63256881	117658379	353	36709											
MARVELD2	153562	broad.mit.edu	37	chr5	68736316	68736316	+	Frame_Shift_Del	DEL	A	A	-													gaatccatgaagagtttaagAaaaaaaagaatgtgagtaaa							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:68736315_68736315GA>G	uc003jwq.3	+	5	1616	c.1542_1542GA>G	c.(1540-1542)aagfs	p.K514fs	MARVELD2_uc010ixf.3_Frame_Shift_Del_p.K502fs|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	514	Poly-Lys.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		AAGAGTTTAAGAAAAAAAAGA	0.264													-	68736316	A	-	68736316	7	5	45	1	0	1	0	1	0	0	0	0	9318	247	9	0	1561	0	MARVELD2	5	68736316	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	5479435	68736316	112178944	354	36710											
TMEM171	134285	broad.mit.edu	37	chr5	72419385	72419385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccatggtgctcaaggtggCggggcctgcatgtgccgtgg	17	12	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:72419385C>T	uc003kcm.2	+	2	389	c.185C>T	c.(184-186)GCG>GTG	p.A62V	TMEM171_uc003kcn.3_Missense_Mutation_p.A62V	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	transmembrane protein 171 isoform 1	62	Helical; (Potential).					integral to membrane					0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		CTCAAGGTGGCGGGGCCTGCA	0.632													T	72419385	C	T	72419385	3	4	45	1	0	0	0	0	1	0	0	0	16085	768	27	1	187	1	TMEM171	5	72419385	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3683069	72419385	108495875	355	36711											
F2RL1	2150	broad.mit.edu	37	chr5	76129543	76129543	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcactgtaaagcagatgCaagtatccctcacctcaaag	7	13	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:76129543C>T	uc003keo.2	+	2	1286	c.1111C>T	c.(1111-1113)CAA>TAA	p.Q371*		NM_005242	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	371	Cytoplasmic (Potential).				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			central_nervous_system(1)	1		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		AAAGCAGATGCAAGTATCCCT	0.453													T	76129543	C	T	76129543	4	4	45	1	0	0	0	0	0	1	0	0	5344	711	25	2	1117	2	F2RL1	5	76129543	Nonsense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3710158	76129543	104785717	356	36712											
XRCC4	7518	broad.mit.edu	37	chr5	82554470	82554470	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacctaaaatggctcctcaGgagaatcagcttcaagaaaa	8	9	3	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:82554470G>T	uc003kib.2	+	7	995	c.867G>T	c.(865-867)CAG>CAT	p.Q289H	XRCC4_uc003kia.1_Missense_Mutation_p.Q289H|XRCC4_uc003kid.2_Missense_Mutation_p.Q289H|XRCC4_uc003kic.2_Missense_Mutation_p.Q289H|XRCC4_uc003kie.2_Missense_Mutation_p.Q289H|XRCC4_uc003kif.1_Missense_Mutation_p.Q289H|XRCC4_uc003kig.2_RNA	NM_022406	NP_071801	Q13426	XRCC4_HUMAN	X-ray repair cross complementing protein 4	289					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			skin(3)	3		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TGGCTCCTCAGGAGAATCAGC	0.348								NHEJ					T	82554470	G	T	82554470	3	4	45	1	0	0	0	0	1	0	0	0	17452	991	35	5	889	5	XRCC4	5	82554470	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	6424927	82554470	98360790	357	36713											
RASA1	5921	broad.mit.edu	37	chr5	86675571	86675571	+	Frame_Shift_Del	DEL	A	A	-													gttaagtccatcaaagttagAaaaaaatgaagatgtgaaca							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:86675570_86675570GA>G	uc003kiw.3	+	18	2705	c.2506_2506GA>G	c.(2506-2508)gaafs	p.E836fs	RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_Frame_Shift_Del_p.E659fs|RASA1_uc011ctv.2_Frame_Shift_Del_p.E669fs|RASA1_uc011ctw.2_Frame_Shift_Del_p.E670fs|RASA1_uc010jaw.3_Frame_Shift_Del_p.E658fs	NM_002890	NP_002881	P20936	RASA1_HUMAN	Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA.	836	Ras-GAP.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of Ras protein signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|regulation of RNA metabolic process|regulation of actin filament polymerization|regulation of cell shape|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	GTPase binding|Ras GTPase activator activity|glycoprotein binding|potassium channel inhibitor activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ATCAAAGTTAGAAAAAAATGA	0.308													-	86675571	A	-	86675571	7	5	45	1	0	1	0	1	0	0	0	0	13060	246	9	0	2593	0	RASA1	5	86675571	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	4121101	86675571	94239689	358	36714											
ERAP1	51752	broad.mit.edu	37	chr5	96116805	96116805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctcagaaattgccaggCcagtgggtatcctactgggt	11	10	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:96116805C>T	uc003kmm.2	-	17	2892	c.2545G>A	c.(2545-2547)GCC>ACC	p.A849T	ERAP1_uc003kml.2_Missense_Mutation_p.A849T|ERAP1_uc010jbm.1_Missense_Mutation_p.A661T|ERAP1_uc003kmn.2_Missense_Mutation_p.A849T	NM_001040458	NP_001035548	Q9NZ08	ERAP1_HUMAN	type 1 tumor necrosis factor receptor shedding	849	Lumenal (Potential).				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		AATTGCCAGGCCAGTGGGTAT	0.333													T	96116805	C	T	96116805	3	4	45	1	0	0	0	0	1	0	0	0	5203	739	26	2	325	2	ERAP1	5	96116805	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	9441234	96116805	84798455	359	36715											
RGMB	285704	broad.mit.edu	37	chr5	98115291	98115291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttcccataggtgactgCcaacagccagcccaatgtcg	8	14	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:98115291C>T	uc003knc.2	+	4	669	c.267C>T	c.(265-267)TGC>TGT	p.C89C	RGMB_uc003knb.2_Silent_p.C89C	NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	RGM domain family, member B	48					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding				0		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		TAGGTGACTGCCAACAGCCAG	0.443													T	98115291	C	T	98115291	2	4	45	1	0	0	0	0	0	0	0	1	13281	747	26	2		2	RGMB	5	98115291	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1998486	98115291	82799969	360	36716											
ZNF608	57507	broad.mit.edu	37	chr5	123984684	123984684	+	Frame_Shift_Del	DEL	C	C	-													ccgcctccctttcccattggCcccccctctgttcttattct							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:123984683_123984683GC>G	uc003ktq.1	-	3	1577	c.1394_1394GC>C	c.(1393-1395)gccfs	p.A465fs	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Frame_Shift_Del_p.A465fs|ZNF608_uc003ktt.1_Frame_Shift_Del_p.A465fs	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	465						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTTCCCATTGGCCCCCCCTCT	0.627													-	123984684	C	-	123984684	7	5	45	1	0	1	0	1	0	0	0	0	18031	739	26	0	3169	0	ZNF608	5	123984684	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	25869393	123984684	56930576	361	36717											
MEGF10	84466	broad.mit.edu	37	chr5	126732274	126732274	+	Frame_Shift_Del	DEL	A	A	-													gcaccagccggtgccagtgcAaaaatggggctctgtgcaac							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:126732273_126732273CA>C	uc003kuh.4	+	6	824	c.462_462CA>C	c.(460-462)tgcfs	p.C154fs	MEGF10_uc010jdc.1_Frame_Shift_Del_p.C154fs|MEGF10_uc010jdd.1_Frame_Shift_Del_p.C154fs|MEGF10_uc003kui.4_Frame_Shift_Del_p.C154fs	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	154	EGF-like 2.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GGTGCCAGTGCAAAAATGGGG	0.617													-	126732274	A	-	126732274	7	5	45	1	0	1	0	1	0	0	0	0	9460	131	5	0	481	0	MEGF10	5	126732274	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	2747590	126732274	54182986	362	36718											
SLC22A4	6583	broad.mit.edu	37	chr5	131671563	131671563	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggaaaatttgggatcacCtctgctttctccatgctgta	9	10	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:131671563C>A	uc003kwq.2	+	8	1479	c.1314C>A	c.(1312-1314)ACC>ACA	p.T438T	uc003kwr.3_Intron	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	solute carrier family 22 member 4	438	Helical; Name=10; (Potential).				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity				0		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TTGGGATCACCTCTGCTTTCT	0.488													A	131671563	C	A	131671563	2	1	45	1	0	0	0	0	0	0	0	1	14456	668	24	5		5	SLC22A4	5	131671563	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	4939289	131671563	49243697	363	36719											
IRF1	3659	broad.mit.edu	37	chr5	131819656	131819656	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccctgctacggtgcacagGgaatggcctggatggagggc	18	10	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:131819656G>T	uc003kxa.2	-	10	1199	c.965C>A	c.(964-966)CCC>CAC	p.P322H	C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.P322H	NM_002198	NP_002189	P10914	IRF1_HUMAN	interferon regulatory factor 1	322					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm					0		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CGGTGCACAGGGAATGGCCTG	0.587													T	131819656	G	T	131819656	3	4	45	1	0	0	0	0	1	0	0	0	7827	1232	43	5	16	5	IRF1	5	131819656	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	148093	131819656	49095604	364	36720											
NEUROG1	4762	broad.mit.edu	37	chr5	134871159	134871159	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggacccgcgtccggccgcgGcgccgccgcctctcctgctc	13	22	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:134871159G>C	uc003lax.2	-	1	481	c.222C>G	c.(220-222)CGC>CGG	p.R74R		NM_006161	NP_006152	Q92886	NGN1_HUMAN	neurogenin 1	74					positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCGGCCGCGGCGCCGCCGCC	0.582													C	134871159	G	C	134871159	2	2	45	1	0	0	0	0	0	0	0	1	10352	1190	42	5		5	NEUROG1	5	134871159	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	3051503	134871159	46044101	365	36721											
REEP2	51308	broad.mit.edu	37	chr5	137777118	137777118	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctttgccttcttcaccacGgccgagacgctcacggatat	9	14	4	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:137777118G>A	uc003lcz.2	+	3	272	c.150G>A	c.(148-150)ACG>ACA	p.T50T	REEP2_uc003lda.2_Silent_p.T50T|REEP2_uc011cyt.1_Silent_p.T11T	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	50	Helical; (Potential).					integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCTTCACCACGGCCGAGACGC	0.622													A	137777118	G	A	137777118	2	1	45	1	0	0	0	0	0	0	0	1	13205	1103	39	1		1	REEP2	5	137777118	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2905959	137777118	43138142	366	36722											
PURA	5813	broad.mit.edu	37	chr5	139494404	139494404	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgacgactacggagtggaggAggagccggccgagctgcccg	18	12	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:139494404A>C	uc003lfa.2	+	1	697	c.638A>C	c.(637-639)GAG>GCG	p.E213A		NM_005859	NP_005850	Q00577	PURA_HUMAN	purine-rich element binding protein A	213					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGTGGAGGAGGAGCCGGCC	0.632													C	139494404	A	C	139494404	3	2	45	1	0	0	0	0	1	0	0	0	12827	304	11	5	640	5	PURA	5	139494404	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	1717286	139494404	41420856	367	36723											
EIF4EBP3	8637	broad.mit.edu	37	chr5	139928824	139928824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttctctctccagatgacGcacaatttgaaatggacatc	6	11	2	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:139928824G>A	uc003lfy.1	+	3	352	c.280G>A	c.(280-282)GCA>ACA	p.A94T	ANKHD1-EIF4EBP3_uc003lfs.1_3'UTR|ANKHD1-EIF4EBP3_uc011czh.1_3'UTR|ANKHD1-EIF4EBP3_uc003lfx.1_3'UTR	NM_003732	NP_003723	O60516	4EBP3_HUMAN	eukaryotic translation initiation factor 4E	94					negative regulation of translational initiation	eukaryotic translation initiation factor 4F complex	eukaryotic initiation factor 4E binding|translation repressor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGATGACGCACAATTTGA	0.542													A	139928824	G	A	139928824	3	1	45	1	0	0	0	0	1	0	0	0	5034	1087	38	1	290	1	EIF4EBP3	5	139928824	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	434420	139928824	40986436	368	36724											
SLC35A4	113829	broad.mit.edu	37	chr5	139946971	139946971	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcccttctggtaggcTggcaagcatggccccagggg	13	14	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:139946971T>C	uc003lgg.1	+	3	945	c.217T>C	c.(217-219)TGG>CGG	p.W73R	APBB3_uc003lgd.1_5'Flank|APBB3_uc003lge.1_5'Flank|APBB3_uc003lgf.1_5'Flank|APBB3_uc010jfp.1_5'Flank|APBB3_uc011czi.1_5'Flank|APBB3_uc010jfr.1_5'Flank|SLC35A4_uc003lgh.1_Missense_Mutation_p.W73R	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	73	Helical; (Potential).|Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGTAGGCTGGCAAGCATG	0.627													C	139946971	T	C	139946971	3	2	45	1	0	0	0	0	1	0	0	0	14573	1580	55	3	219	3	SLC35A4	5	139946971	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	18147	139946971	40968289	369	36725											
PCDHA4	56144	broad.mit.edu	37	chr5	140188299	140188299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgtcgagctacgtttcGgtgcatgcggagagcggcaa	16	10	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:140188299G>A	uc003lhi.2	+	1	1628	c.1527G>A	c.(1525-1527)TCG>TCA	p.S509S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.S509S|PCDHA4_uc011daa.1_Silent_p.S509S	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	509	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACGTTTCGGTGCATGCGG	0.677													A	140188299	G	A	140188299	2	1	45	1	0	0	0	0	0	0	0	1	11526	1103	39	1		1	PCDHA4	5	140188299	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	241328	140188299	40726961	370	36726											
PCDHA6	56142	broad.mit.edu	37	chr5	140209639	140209639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgctggtgaaagaccacGgtgagccggcgctgacagcg	17	10	0	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:140209639G>A	uc003lho.2	+	1	1990	c.1963G>A	c.(1963-1965)GGT>AGT	p.G655S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.G655S	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	655	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAGACCACGGTGAGCCGGC	0.687													A	140209639	G	A	140209639	3	1	45	1	0	0	0	0	1	0	0	0	11528	1116	39	1	1965	1	PCDHA6	5	140209639	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	21340	140209639	40705621	371	36727											
PCDHA13	56136	broad.mit.edu	37	chr5	140263299	140263299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtgtctgctcaggacgcGgacgcacaggagaacgcgct	15	12	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:140263299G>A	uc003lif.2	+	1	1446	c.1446G>A	c.(1444-1446)GCG>GCA	p.A482A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.A482A|PCDHA13_uc003lid.2_Silent_p.A482A	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	482	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGGACGCGGACGCACAGG	0.667													A	140263299	G	A	140263299	2	1	45	1	0	0	0	0	0	0	0	1	11523	1103	39	1		1	PCDHA13	5	140263299	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	53660	140263299	40651961	372	36728			1	9		3	3	238	N	G_C	5.463156e-05
PCDHA13	56136	broad.mit.edu	37	chr5	140263504	140263504	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgggcagcaacgtgacgCtgcaggtgttcgtgctggac	15	11	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:140263504C>T	uc003lif.2	+	1	1651	c.1651C>T	c.(1651-1653)CTG>TTG	p.L551L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.L551L|PCDHA13_uc003lid.2_Silent_p.L551L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	551	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGTGACGCTGCAGGTGTT	0.692													T	140263504	C	T	140263504	2	4	45	1	0	0	0	0	0	0	0	1	11523	796	28	2		2	PCDHA13	5	140263504	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	205	140263504	40651756	373	36729			1	9		3	3	238	N	G_C	5.463156e-05
PCDHA13	56136	broad.mit.edu	37	chr5	140263536	140263536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggacgagaacgacaaCgctccggcgctgctgacgcc	14	14	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:140263536C>T	uc003lif.2	+	1	1683	c.1683C>T	c.(1681-1683)AAC>AAT	p.N561N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.N561N|PCDHA13_uc003lid.2_Silent_p.N561N	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	561	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACGACAACGCTCCGGCGC	0.697													T	140263536	C	T	140263536	2	4	45	1	0	0	0	0	0	0	0	1	11523	535	19	1		1	PCDHA13	5	140263536	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	32	140263536	40651724	374	36730			1	9		3	3	238	N	G_C	5.463156e-05
PCDHAC2	56134	broad.mit.edu	37	chr5	140346519	140346519	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggagcaggcacccggcgcGctcgtgggcaacgtggctcg	18	13	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:140346519G>A	uc003lii.2	+	1	408	c.168G>A	c.(166-168)GCG>GCA	p.A56A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Silent_p.A56A	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	56	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCGGCGCGCTCGTGGGCA	0.572													A	140346519	G	A	140346519	2	1	45	1	0	0	0	0	0	0	0	1	11533	1074	38	1		1	PCDHAC2	5	140346519	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	82983	140346519	40568741	375	36731											
PCDHB12	56124	broad.mit.edu	37	chr5	140590109	140590109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctccccggctttgagcagcGaggcgctggtgcgcgtgctg	17	13	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:140590109G>A	uc003liz.2	+	1	1819	c.1630G>A	c.(1630-1632)GAG>AAG	p.E544K	PCDHB12_uc011dak.1_Missense_Mutation_p.E207K	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	544	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGAGCAGCGAGGCGCTGGT	0.697													A	140590109	G	A	140590109	3	1	45	1	0	0	0	0	1	0	0	0	11537	1059	37	1	1632	1	PCDHB12	5	140590109	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	243590	140590109	40325151	376	36732											
PCDHB15	56121	broad.mit.edu	37	chr5	140626242	140626242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctccagagacagaagtgGccctgtttaggattagagac	11	8	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:140626242G>A	uc003lje.2	+	1	1096	c.1096G>A	c.(1096-1098)GCC>ACC	p.A366T		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	366	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACAGAAGTGGCCCTGTTTAG	0.418													A	140626242	G	A	140626242	3	1	45	1	0	0	0	0	1	0	0	0	11540	1203	42	2	1098	2	PCDHB15	5	140626242	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	36133	140626242	40289018	377	36733											
PCDHGA6	56109	broad.mit.edu	37	chr5	140754749	140754749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctccaggaacagtaatcGccctttttcaagtgttcgat	7	12	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:140754749G>A	uc003ljy.1	+	1	1099	c.1099G>A	c.(1099-1101)GCC>ACC	p.A367T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.A367T	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	367	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAGTAATCGCCCTTTTTCA	0.433													A	140754749	G	A	140754749	3	1	45	1	0	0	0	0	1	0	0	0	11558	1087	38	1	1101	1	PCDHGA6	5	140754749	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	128507	140754749	40160511	378	36734											
PCDHGC5	56097	broad.mit.edu	37	chr5	140794611	140794611	+	Frame_Shift_Del	DEL	G	G	-													gagccgggactcttcgcggtGggggagcacacgggcgaggt							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:140794610_140794610TG>T	uc003lkl.2	+	0	1868	c.1868_1868TG>T	c.(1867-1869)gtgfs	p.V623fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Frame_Shift_Del_p.V623fs|PCDHGC5_uc003lkm.3_5'Flank|PCDHGC5_uc003lkn.2_5'Flank	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	621	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTTCGCGGTGGGGGAGCAC	0.687													-	140794611	G	-	140794611	7	5	45	1	0	1	0	1	0	0	0	0	11571	1335	47	0		0	PCDHGC5	5	140794611	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	39862	140794611	40120649	379	36735											
PCDHGA11	56105	broad.mit.edu	37	chr5	140802774	140802774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctctcggccaccgtcacGctcaccgtggctgtggccga	11	18	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:140802774G>A	uc003lkq.1	+	1	2238	c.1980G>A	c.(1978-1980)ACG>ACA	p.T660T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Silent_p.T660T|PCDHGA11_uc003lkp.1_Intron	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	660	Extracellular (Potential).|Cadherin 6.				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)			CCACCGTCACGCTCACCGTGG	0.662													A	140802774	G	A	140802774	2	1	45	1	0	0	0	0	0	0	0	1	11552	1074	38	1		1	PCDHGA11	5	140802774	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	8163	140802774	40112486	380	36736											
DIAPH1	1729	broad.mit.edu	37	chr5	140903716	140903716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgcttacttaccttgacGgggccctctcttccgtcgga	10	13	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:140903716G>A	uc003llb.3	-	28	3796	c.3655C>T	c.(3655-3657)CGT>TGT	p.R1219C	DIAPH1_uc011dbd.1_Missense_Mutation_p.R113C|DIAPH1_uc003llc.3_Missense_Mutation_p.R1210C	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	1219	DAD.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACCTTGACGGGGCCCTCTC	0.537													A	140903716	G	A	140903716	3	1	45	1	0	0	0	0	1	0	0	0	4518	1116	39	1	171	1	DIAPH1	5	140903716	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	100942	140903716	40011544	381	36737											
GNPDA1	10007	broad.mit.edu	37	chr5	141385765	141385765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctcttcaaaggcatcaCattctgcctgtaggtcgact	7	12	5	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:141385765C>T	uc003lmf.3	-	3	1112	c.353G>A	c.(352-354)TGT>TAT	p.C118Y	GNPDA1_uc003lmg.3_Missense_Mutation_p.C118Y|GNPDA1_uc010jgh.2_Missense_Mutation_p.C118Y|GNPDA1_uc003lmh.3_Missense_Mutation_p.C84Y	NM_005471	NP_005462	P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	118					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity				0		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGGCATCACATTCTGCCTG	0.507													T	141385765	C	T	141385765	3	4	45	1	0	0	0	0	1	0	0	0	6542	478	17	4	532	4	GNPDA1	5	141385765	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	482049	141385765	39529495	382	36738											
ARHGAP26	23092	broad.mit.edu	37	chr5	142586763	142586763	+	Splice_Site	DEL	C	C	-													ctggttgttatgtcttgcagCcccccgaatccaagcccaac							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:142586762_142586762GC>G	uc011dbj.2	+	21	2024	c.1989_splice	c.e21-1	p.L663_splice	ARHGAP26_uc003lmt.3_Splice_Site_p.L663_splice|ARHGAP26_uc003lmw.3_Intron	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	663	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTCTTGCAGCCCCCCGAAT	0.582													-	142586763	C	-	142586763	8	5	45	1	0	1	0	1	0	0	1	0	875	753	26	0	2071	0	ARHGAP26	5	142586763	Splice_Site	DEL	C	TCGA-BR-6852-01A-11D-1882-08	1200998	142586763	38328497	383	36739											
SLC6A7	6534	broad.mit.edu	37	chr5	149580755	149580755	+	Frame_Shift_Del	DEL	C	C	-													gggcatccagttctatctcaCcccccagttccaccacttgt							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:149580754_149580754AC>A	uc003lrr.3	+	5	1197	c.826_826AC>A	c.(826-828)accfs	p.T276fs		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA.	276						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTTCTATCTCACCCCCCAGTT	0.632													-	149580755	C	-	149580755	7	5	45	1	0	1	0	1	0	0	0	0	14689	507	18	0	849	0	SLC6A7	5	149580755	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	6993992	149580755	31334505	384	36740											
RPS14	6208	broad.mit.edu	37	chr5	149826448	149826448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggccacatcctgggcagcCaacatagcagcatatggtga	12	11	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:149826448C>A	uc003lsh.2	-	3	501	c.228G>T	c.(226-228)TTG>TTT	p.L76F	uc003lsg.2_5'Flank|RPS14_uc003lsi.2_Missense_Mutation_p.L76F|RPS14_uc003lsj.2_Missense_Mutation_p.L76F	NM_001025071	NP_001020242	P62263	RS14_HUMAN	ribosomal protein S14	76					endocrine pancreas development|erythrocyte differentiation|maturation of SSU-rRNA|negative regulation of transcription from RNA polymerase II promoter|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA 5'-UTR binding|protein binding|structural constituent of ribosome|translation regulator activity			central_nervous_system(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGGGCAGCCAACATAGCAG	0.567													A	149826448	C	A	149826448	3	1	45	1	0	0	0	0	1	0	0	0	13624	593	21	5	239	5	RPS14	5	149826448	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	245693	149826448	31088812	385	36741											
NDST1	3340	broad.mit.edu	37	chr5	149915269	149915269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctctccctaggagcatgGcattcccacagacatggggt	10	13	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:149915269G>A	uc003lsk.3	+	6	1761	c.1259G>A	c.(1258-1260)GGC>GAC	p.G420D	NDST1_uc011dcj.1_Missense_Mutation_p.G420D|NDST1_uc003lsl.2_Missense_Mutation_p.G420D	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	420	Heparan sulfate N-deacetylase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAGGAGCATGGCATTCCCACA	0.597													A	149915269	G	A	149915269	3	1	45	1	0	0	0	0	1	0	0	0	10255	1203	42	2	1277	2	NDST1	5	149915269	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	88821	149915269	30999991	386	36742											
NDST1	3340	broad.mit.edu	37	chr5	149925026	149925026	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcctcatcaaccccgcggAccgggcctattcctggtacc	8	18	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:149925026A>G	uc003lsk.3	+	11	2625	c.2123A>G	c.(2122-2124)GAC>GGC	p.D708G	NDST1_uc011dcj.1_Missense_Mutation_p.D708G	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	708	Heparan sulfate N-sulfotransferase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACCCCGCGGACCGGGCCTAT	0.567													G	149925026	A	G	149925026	3	3	45	1	0	0	0	0	1	0	0	0	10255	275	10	3	2161	3	NDST1	5	149925026	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	9757	149925026	30990234	387	36743											
TNIP1	10318	broad.mit.edu	37	chr5	150411891	150411891	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagggtccatcacttgggaGctctgatttggatttcgaac	13	8	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:150411891G>T	uc003ltf.2	-	17	2422	c.1833C>A	c.(1831-1833)AGC>AGA	p.S611R	TNIP1_uc011dcn.1_Missense_Mutation_p.S129R|TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_Missense_Mutation_p.S547R|TNIP1_uc010jhn.2_Intron|TNIP1_uc011dco.1_Missense_Mutation_p.A617D|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_Missense_Mutation_p.S611R|TNIP1_uc003ltg.2_Missense_Mutation_p.S558R|TNIP1_uc003ltj.2_Missense_Mutation_p.S611R|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_Intron|TNIP1_uc010jhp.1_Missense_Mutation_p.S494R|TNIP1_uc010jhr.1_Missense_Mutation_p.S611R|TNIP1_uc003ltk.2_Missense_Mutation_p.S611R	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	611	Pro-rich.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCACTTGGGAGCTCTGATTTG	0.478													T	150411891	G	T	150411891	3	4	45	1	0	0	0	0	1	0	0	0	16311	962	34	5	85	5	TNIP1	5	150411891	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	486865	150411891	30503369	388	36744											
FAT2	2196	broad.mit.edu	37	chr5	150946553	150946553	+	Frame_Shift_Del	DEL	T	T	-													aagttgtgggtgaggcatagTttttgccatctgaggctgta							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:150946552_150946552GT>G	uc003lue.4	-	0	1954	c.1941_1941AC>C	c.(1939-1941)aacfs	p.N647fs	FAT2_uc010jhx.1_Frame_Shift_Del_p.N647fs	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	647	Cadherin 5.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGAGGCATAGTTTTTGCCAT	0.418													-	150946553	T	-	150946553	7	5	45	1	0	1	0	1	0	0	0	0	5690	1725	60	0	11201	0	FAT2	5	150946553	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	534662	150946553	29968707	389	36745											
G3BP1	10146	broad.mit.edu	37	chr5	151170610	151170610	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagattcatgcaaacgtttgTccttgctcctgaggtatgtg	11	8	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:151170610T>C	uc003lun.2	+	4	509	c.338T>C	c.(337-339)GTC>GCC	p.V113A	G3BP1_uc010jhy.1_Missense_Mutation_p.V113A|G3BP1_uc003lum.2_Missense_Mutation_p.V113A|G3BP1_uc011dcu.1_5'UTR|G3BP1_uc010jhz.2_5'UTR	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	113	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CAAACGTTTGTCCTTGCTCCT	0.403													C	151170610	T	C	151170610	3	2	45	1	0	0	0	0	1	0	0	0	6141	1667	58	3	348	3	G3BP1	5	151170610	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	224057	151170610	29744650	390	36746											
GALNT10	55568	broad.mit.edu	37	chr5	153765901	153765901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggccggtggactgttcGccgtggatcggaagtggttc	17	8	0	1	rs139262954	byFrequency	TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:153765901G>A	uc003lvh.2	+	7	1099	c.967G>A	c.(967-969)GCC>ACC	p.A323T	GALNT10_uc003lvg.1_Missense_Mutation_p.A323T|GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Missense_Mutation_p.A164T	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	323	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TGGACTGTTCGCCGTGGATCG	0.567													A	153765901	G	A	153765901	3	1	45	1	0	0	0	0	1	0	0	0	6208	1087	38	1	993	1	GALNT10	5	153765901	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2595291	153765901	27149359	391	36747											
HAVCR2	84868	broad.mit.edu	37	chr5	156514218	156514218	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttcatatacgttctcttcAatggtatagatgttttcttc	5	8	4	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:156514218A>G	uc003lwk.1	-	7	945	c.801T>C	c.(799-801)ATT>ATC	p.I267I		NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	T cell immunoglobulin mucin 3 precursor	267	Cytoplasmic (Potential).					integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGTTCTCTTCAATGGTATAGA	0.468													G	156514218	A	G	156514218	2	3	45	1	0	0	0	0	0	0	0	1	6974	126	5	3		3	HAVCR2	5	156514218	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	2748317	156514218	24401042	392	36748											
GABRA6	2559	broad.mit.edu	37	chr5	161116141	161116141	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctaataaactcttcagaAtaatgcagaatggaaccatt	5	9	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:161116141A>G	uc003lyu.2	+	4	750	c.412A>G	c.(412-414)ATA>GTA	p.I138V	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	138	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTCTTCAGAATAATGCAGAA	0.373										TCGA Ovarian(5;0.080)			G	161116141	A	G	161116141	3	3	45	1	0	0	0	0	1	0	0	0	6165	101	4	3	426	3	GABRA6	5	161116141	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	4601923	161116141	19799119	393	36749											
ODZ2	57451	broad.mit.edu	37	chr5	167589717	167589717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagagggcccggatgcaacGttgccatggaaacttcctgt	14	10	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:167589717G>A	uc010jjd.2	+	13	2497	c.2497G>A	c.(2497-2499)GTT>ATT	p.V833I	ODZ2_uc003lzr.3_Missense_Mutation_p.V610I|ODZ2_uc003lzt.3_Missense_Mutation_p.V206I|ODZ2_uc010jje.2_Missense_Mutation_p.V104I|uc003lzs.1_Intron	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CGGATGCAACGTTGCCATGGA	0.567													A	167589717	G	A	167589717	3	1	45	1	0	0	0	0	1	0	0	0	10835	1145	40	1	2547	1	ODZ2	5	167589717	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	6473576	167589717	13325543	394	36750											
CCDC99	54908	broad.mit.edu	37	chr5	169020375	169020375	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatagaaaaactgaaagtGgaattagatgaagccaggct	11	4	0	5			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:169020375G>A	uc003mae.3	+	4	633	c.354G>A	c.(352-354)GTG>GTA	p.V118V	CCDC99_uc010jjj.2_Silent_p.V47V|CCDC99_uc011deq.1_Intron|CCDC99_uc010jjk.2_5'UTR	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	coiled-coil domain containing 99	118	Potential.				cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			ovary(1)|liver(1)	2	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACTGAAAGTGGAATTAGATG	0.348													A	169020375	G	A	169020375	2	1	45	1	0	0	0	0	0	0	0	1	2876	1335	47	4		4	CCDC99	5	169020375	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1430658	169020375	11894885	395	36751											
CCDC99	54908	broad.mit.edu	37	chr5	169021259	169021259	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaaagaggaaaaagaggaGcgagagaaagaagcagtttc	13	4	0	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:169021259G>A	uc003mae.3	+	5	921	c.642G>A	c.(640-642)GAG>GAA	p.E214E	CCDC99_uc010jjj.2_Silent_p.E143E|CCDC99_uc011deq.1_Silent_p.E31E|CCDC99_uc010jjk.2_Intron	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	coiled-coil domain containing 99	214	Potential.				cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			ovary(1)|liver(1)	2	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAAAGAGGAGCGAGAGAAAG	0.358													A	169021259	G	A	169021259	2	1	45	1	0	0	0	0	0	0	0	1	2876	962	34	2		2	CCDC99	5	169021259	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	884	169021259	11894001	396	36752											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171777412	171777412	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggcggccttcaaaccgccCgtccctctggctgctgagca	12	17	2	1	rs111492578		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:171777412C>A	uc003mbr.2	-	10	1138	c.967G>T	c.(967-969)GGG>TGG	p.G323W		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	323					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCAAACCGCCCGTCCCTCTGG	0.612													A	171777412	C	A	171777412	3	1	45	1	0	0	0	0	1	0	0	0	14257	652	23	5	1784	5	SH3PXD2B	5	171777412	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2756153	171777412	9137848	397	36753											
DRD1	1812	broad.mit.edu	37	chr5	174870015	174870015	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacaggatgagcagcgacaGgaaacaggcagtgaggatac	16	7	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:174870015G>T	uc003mcz.2	-	2	1033	c.88C>A	c.(88-90)CTG>ATG	p.L30M		NM_000794	NP_000785	P21728	DRD1_HUMAN	dopamine receptor D1	30	Helical; Name=1; (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			ovary(2)|skin(1)	3	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	AGCAGCGACAGGAAACAGGCA	0.562													T	174870015	G	T	174870015	3	4	45	1	0	0	0	0	1	0	0	0	4756	991	35	5	1256	5	DRD1	5	174870015	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	3092603	174870015	6045245	398	36754											
HRH2	3274	broad.mit.edu	37	chr5	175110255	175110255	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatggcacccaatggcacaGcctcttccttttgcctggac	10	14	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:175110255G>T	uc003mdd.2	+	1	1792	c.19G>T	c.(19-21)GCC>TCC	p.A7S	HRH2_uc003mdc.3_Missense_Mutation_p.A7S	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	7	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CAATGGCACAGCCTCTTCCTT	0.567													T	175110255	G	T	175110255	3	4	45	1	0	0	0	0	1	0	0	0	7356	971	34	5	21	5	HRH2	5	175110255	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	240240	175110255	5805005	399	36755											
C5orf25	375484	broad.mit.edu	37	chr5	175772230	175772230	+	Frame_Shift_Del	DEL	A	A	-													accgaaaggacttaataatcAaaaggattaagcccaaaccc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:175772229_175772229CA>C	uc003mds.4	+	11	2807	c.2400_2400CA>C	c.(2398-2400)atcfs	p.I800fs	C5orf25_uc003mdr.3_Non-coding_Transcript|C5orf25_uc003mdt.4_Frame_Shift_Del_p.I385fs|C5orf25_uc003mdv.3_Frame_Shift_Del_p.I261fs			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	800												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		ACTTAATAATCAAAAGGATTA	0.458													-	175772230	A	-	175772230	7	5	45	1	0	1	0	1	0	0	0	0	2288	131	5	0	1190	0	C5orf25	5	175772230	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	661975	175772230	5143030	400	36756											
RNF44	22838	broad.mit.edu	37	chr5	175959004	175959004	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggatggggttctgcctaCctgctcgtggagatcaacca	14	10	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:175959004C>T	uc003mek.1	-	3	822	c.297_splice	c.e3+1	p.Q99_splice	RNF44_uc011dfo.1_Splice_Site_p.Q7_splice|RNF44_uc003mel.1_5'Flank	NM_014901	NP_055716	Q7L0R7	RNF44_HUMAN	ring finger protein 44								zinc ion binding				0	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTCTGCCTACCTGCTCGTGG	0.632													T	175959004	C	T	175959004	5	4	45	1	0	0	0	0	0	0	1	0	13496	521	18	4	1036	4	RNF44	5	175959004	Splice_Site	SNP	C	TCGA-BR-6852-01A-11D-1882-08	186774	175959004	4956256	401	36757											
RGS14	10636	broad.mit.edu	37	chr5	176797920	176797920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcaggctggagctgacggCgctggagcgcgtggtacgaa	18	10	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:176797920C>T	uc003mgf.2	+	11	1324	c.1142C>T	c.(1141-1143)GCG>GTG	p.A381V	RGS14_uc003mgh.2_Missense_Mutation_p.A229V|RGS14_uc003mgi.2_Missense_Mutation_p.A152V|RGS14_uc003mgj.2_5'Flank	NM_006480	NP_006471	O43566	RGS14_HUMAN	regulator of G-protein signalling 14	381	RBD 2.|Necessary for interaction with RABGEF1 (By similarity).				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			lung(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCTGACGGCGCTGGAGCGC	0.687													T	176797920	C	T	176797920	3	4	45	1	0	0	0	0	1	0	0	0	13297	768	27	1	1184	1	RGS14	5	176797920	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	838916	176797920	4117340	402	36758											
AGXT2L2	85007	broad.mit.edu	37	chr5	177658503	177658504	+	Frame_Shift_Ins	INS	-	-	A													tcttaacaggatcctcgggaINSaaaaagagtctgcaggaaga							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:177658502_177658503G>GA	uc003miz.3	-	1	333_334	c.81_82C>TC	c.(79-84)tttcccfs	p.F27fs	AGXT2L2_uc003mjc.3_5'UTR|AGXT2L2_uc003mjb.3_5'UTR|AGXT2L2_uc003mja.3_Non-coding_Transcript	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 2 (AGXT2L2), mRNA.	27						mitochondrion	pyridoxal phosphate binding|transaminase activity			breast(1)|endometrium(2)|large_intestine(1)|pancreas(1)|prostate(1)	6	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GGATCCTCGGGAAAAAAGAGTC	0.55													A	177658504	-	A	177658503	7	5	45	1	0	1	1	0	0	0	0	0	407	243	9	0	1315	0	AGXT2L2	5	177658503	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	860583	177658503	3256757	403	36759											
CANX	821	broad.mit.edu	37	chr5	179150668	179150668	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtttttcagccaggcgTtgtggggcagatgatcgagg	15	7	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr5:179150668T>C	uc003mkk.2	+	12	1583	c.1406T>C	c.(1405-1407)GTT>GCT	p.V469A	CANX_uc011dgp.1_Missense_Mutation_p.V504A|CANX_uc003mkl.2_Missense_Mutation_p.V469A|CANX_uc011dgq.1_Missense_Mutation_p.V361A	NM_001746	NP_001737	P27824	CALX_HUMAN	calnexin precursor	469	Lumenal (Potential).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding				0	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGCCAGGCGTTGTGGGGCAG	0.507													C	179150668	T	C	179150668	3	2	45	1	0	0	0	0	1	0	0	0	2618	1725	60	3	1448	3	CANX	5	179150668	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1492165	179150668	1764592	404	36760											
FAM50B	26240	broad.mit.edu	37	chr6	3850592	3850592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcgcgagaaagtgaaggacGaggagatggaggtcaccttc	16	7	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:3850592G>A	uc003mvu.2	+	2	659	c.547G>A	c.(547-549)GAG>AAG	p.E183K		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	183						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				AGTGAAGGACGAGGAGATGGA	0.667													A	3850592	G	A	3850592	3	1	45	1	0	0	0	0	1	0	0	0	5578	1059	37	1	549	1	FAM50B	6	3850592	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08		3850592	167264475	405	36761											
RREB1	6239	broad.mit.edu	37	chr6	7231972	7231972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtggccggagcccctgccGaccaccatgggcccagtgat	14	15	0	1	rs146641651		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:7231972G>A	uc003mxc.2	+	10	4030	c.3640G>A	c.(3640-3642)GAC>AAC	p.D1214N	RREB1_uc003mxb.2_Missense_Mutation_p.D1214N|RREB1_uc010jnx.2_Missense_Mutation_p.D1214N	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1214					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGCCCCTGCCGACCACCATGG	0.592													A	7231972	G	A	7231972	3	1	45	1	0	0	0	0	1	0	0	0	13679	1058	37	1	3666	1	RREB1	6	7231972	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	3381380	7231972	163883095	406	36762											
DSP	1832	broad.mit.edu	37	chr6	7576615	7576615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggctctatgatgctaaaCgccgccaggattccttagaa	10	10	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:7576615C>T	uc003mxp.1	+	19	2998	c.2719C>T	c.(2719-2721)CGC>TGC	p.R907C	DSP_uc003mxq.1_Missense_Mutation_p.R907C	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	907	Globular 1.|Spectrin 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGATGCTAAACGCCGCCAGGA	0.423													T	7576615	C	T	7576615	3	4	45	1	0	0	0	0	1	0	0	0	4781	536	19	1	2793	1	DSP	6	7576615	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	344643	7576615	163538452	407	36763											
HIVEP1	3096	broad.mit.edu	37	chr6	12125503	12125503	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcaacctgaaattagtaaTgaggctgttaatttgacaaa	7	6	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:12125503T>C	uc003nac.2	+	4	5654	c.5475T>C	c.(5473-5475)AAT>AAC	p.N1825N	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1825					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAATTAGTAATGAGGCTGTTA	0.368													C	12125503	T	C	12125503	2	2	45	1	0	0	0	0	0	0	0	1	7186	1461	51	3		3	HIVEP1	6	12125503	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	4548888	12125503	158989564	408	36764											
GFOD1	54438	broad.mit.edu	37	chr6	13365634	13365634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcccacggagtgcaggcCgccgccgcccatcaagtcgt	14	16	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:13365634C>T	uc003nat.1	-	2	1179	c.514G>A	c.(514-516)GGC>AGC	p.G172S	GFOD1_uc003nas.1_Missense_Mutation_p.G69S	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain	172						extracellular region	binding|oxidoreductase activity			ovary(2)	2	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GAGTGCAGGCCGCCGCCGCCC	0.642													T	13365634	C	T	13365634	3	4	45	1	0	0	0	0	1	0	0	0	6343	652	23	1	662	1	GFOD1	6	13365634	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1240131	13365634	157749433	409	36765											
RANBP9	10048	broad.mit.edu	37	chr6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgttgctgctgctgcGgcggcggcggcggcggctgc	20	13	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:13711709G>T	uc003nbb.2	-	1	88	c.29C>A	c.(28-30)CCG>CAG	p.P10Q		NM_005493	NP_005484	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			lung(1)|skin(1)	2	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.517													T	13711709	G	T	13711709	3	4	45	1	0	0	0	0	1	0	0	0	13032	1116	39	5	2216	5	RANBP9	6	13711709	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	346075	13711709	157403358	410	36766											
JARID2	3720	broad.mit.edu	37	chr6	15496722	15496722	+	Frame_Shift_Del	DEL	G	G	-													aagtcatgcactaaggaggtGggggggcggcagctgcggga							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:15496721_15496721TG>T	uc003nbj.3	+	6	1509	c.1265_1265TG>T	c.(1264-1266)gtgfs	p.V422fs	JARID2_uc011diu.1_Frame_Shift_Del_p.V286fs|JARID2_uc011div.2_Frame_Shift_Del_p.V250fs|JARID2_uc011diw.1_Frame_Shift_Del_p.V384fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	422					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ACTAAGGAGGTGGGGGGGCGG	0.667													-	15496722	G	-	15496722	7	5	45	1	0	1	0	1	0	0	0	0	7945	1335	47	0	1292	0	JARID2	6	15496722	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	1785013	15496722	155618345	411	36767											
JARID2	3720	broad.mit.edu	37	chr6	15520332	15520332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctggtcaatcagatctgCggcaaagtgtctggtaaaaa	11	7	5	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:15520332C>T	uc003nbj.2	+	18	3835	c.3591C>T	c.(3589-3591)TGC>TGT	p.C1197C	JARID2_uc011div.1_Silent_p.C1025C	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	1197					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ATCAGATCTGCGGCAAAGTGT	0.498													T	15520332	C	T	15520332	2	4	45	1	0	0	0	0	0	0	0	1	7945	776	27	1		1	JARID2	6	15520332	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	23610	15520332	155594735	412	36768											
C6orf62	81688	broad.mit.edu	37	chr6	24714607	24714607	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaggagacagacgattTtttcaatatcattccgaggc	8	8	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:24714607T>C	uc003nel.2	-	3	875	c.368A>G	c.(367-369)AAA>AGA	p.K123R		NM_030939	NP_112201	Q9GZU0	CF062_HUMAN	hypothetical protein LOC81688	123						intracellular					0						ACAGACGATTTTTTCAATATC	0.338													C	24714607	T	C	24714607	3	2	45	1	0	0	0	0	1	0	0	0	2368	1841	64	3	333	3	C6orf62	6	24714607	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	9194275	24714607	146400460	413	36769											
BTN3A3	10384	broad.mit.edu	37	chr6	26452193	26452193	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatactggactatgggcctgActgatgggaataagtatcgg	14	6	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:26452193A>G	uc003nhz.2	+	11	1489	c.1309A>G	c.(1309-1311)ACT>GCT	p.T437A	BTN3A3_uc003nia.2_Missense_Mutation_p.T395A|BTN3A3_uc011dkn.1_Missense_Mutation_p.T388A	NM_006994	NP_008925	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3 isoform a	437	B30.2/SPRY.|Cytoplasmic (Potential).					integral to membrane					0						TATGGGCCTGACTGATGGGAA	0.493													G	26452193	A	G	26452193	3	3	45	1	0	0	0	0	1	0	0	0	1564	275	10	3	1343	3	BTN3A3	6	26452193	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	1737586	26452193	144662874	414	36770											
BTN1A1	696	broad.mit.edu	37	chr6	26501975	26501975	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtgctggtgcatagggaCgggcgcgagcaggaagccga	19	10	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:26501975C>T	uc003nif.3	+	2	257	c.237C>T	c.(235-237)GAC>GAT	p.D79D		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1 precursor	79	Extracellular (Potential).|Ig-like V-type 1.					extracellular region|integral to plasma membrane	receptor activity			ovary(1)|skin(1)	2						TGCATAGGGACGGGCGCGAGC	0.692													T	26501975	C	T	26501975	2	4	45	1	0	0	0	0	0	0	0	1	1559	535	19	1		1	BTN1A1	6	26501975	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	49782	26501975	144613092	415	36771											
NKAPL	222698	broad.mit.edu	37	chr6	28227433	28227433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctcgtatagtggatatcGctaccatcgtcactgctatg	9	11	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:28227433G>A	uc003nkt.2	+	1	336	c.284G>A	c.(283-285)CGC>CAC	p.R95H	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	95										upper_aerodigestive_tract(1)|ovary(1)	2						AGTGGATATCGCTACCATCGT	0.567													A	28227433	G	A	28227433	3	1	45	1	0	0	0	0	1	0	0	0	10440	1087	38	1	286	1	NKAPL	6	28227433	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1725458	28227433	142887634	416	36772											
OR5V1	81696	broad.mit.edu	37	chr6	29323689	29323689	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagttgaaccacacaccccAcataagaaatgctttttttc	4	11	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:29323689A>G	uc011dlo.1	-	1	366	c.284T>C	c.(283-285)GTG>GCG	p.V95A		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V,	95	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|kidney(1)	4						CACACACCCCACATAAGAAAT	0.428													G	29323689	A	G	29323689	3	3	45	1	0	0	0	0	1	0	0	0	11184	159	6	3	684	3	OR5V1	6	29323689	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	1096256	29323689	141791378	417	36773											
HLA-A	3105	broad.mit.edu	37	chr6	29910372	29910372	+	Frame_Shift_Del	DEL	G	G	-													accctcctcctgctactctcGggggccctggccctgaccca					rs77233523	byFrequency	TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:29910371_29910371CG>C	uc003nol.3	+	0	125	c.41_41CG>C	c.(40-42)tcgfs	p.S14fs	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_Intron|HLA-A_uc021ytz.1_Frame_Shift_Del_p.S14fs|HLA-A_uc010jrq.3_5'UTR|HLA-A_uc003nok.3_5'UTR|HLA-A_uc021yua.1_Frame_Shift_Del_p.S14fs|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.2_5'Flank|HLA-A_uc011dmd.2_5'Flank|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	14					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CTGCTACTCTCGGGGGCCCTG	0.711									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			-	29910372	G	-	29910372	7	5	45	1	0	1	0	1	0	0	0	0	7195	1103	39	0	44	0	HLA-A	6	29910372	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	586683	29910372	141204695	418	36774											
HLA-A	3105	broad.mit.edu	37	chr6	29910672	29910672	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcgagccagaggatggagcCgcgggcgccgtggatagagc	19	11	0	2	rs41563719		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:29910672C>A	uc003nol.2	+	2	212	c.212C>A	c.(211-213)CCG>CAG	p.P71Q	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.P71Q|HLA-A_uc003noo.2_Missense_Mutation_p.P71Q|HLA-A_uc010jrr.2_Missense_Mutation_p.P71Q|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.P43Q|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	71	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						AGGATGGAGCCGCGGGCGCCG	0.692									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			A	29910672	C	A	29910672	3	1	45	1	0	0	0	0	1	0	0	0	7195	652	23	5	218	5	HLA-A	6	29910672	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	300	29910672	141204395	419	36775											
PPP1R11	6992	broad.mit.edu	37	chr6	30036905	30036905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtatttatgagaaacctcGggcctttggcgagagctcca	11	10	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:30036905G>A	uc003npb.2	+	3	459	c.203G>A	c.(202-204)CGG>CAG	p.R68Q	PPP1R11_uc010jrw.2_RNA|PPP1R11_uc003npc.2_RNA	NM_021959	NP_068778	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor)	68						soluble fraction	protein binding|protein phosphatase inhibitor activity			ovary(1)|lung(1)|skin(1)	3						GAGAAACCTCGGGCCTTTGGC	0.512													A	30036905	G	A	30036905	3	1	45	1	0	0	0	0	1	0	0	0	12353	1116	39	1	213	1	PPP1R11	6	30036905	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	126233	30036905	141078162	420	36776											
PRR3	80742	broad.mit.edu	37	chr6	30530201	30530201	+	Frame_Shift_Del	DEL	A	A	-													ctgtctgccgacattttgccAaaaagggccactgtcgatat							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:30530200_30530200CA>C	uc003nqi.2	+	3	1131	c.495_495CA>C	c.(493-495)gccfs	p.A165fs	PRR3_uc003nqj.2_Frame_Shift_Del_p.A144fs	NM_025263	NP_079539	P79522	PRR3_HUMAN	Homo sapiens proline rich 3 (PRR3), transcript variant 1, mRNA.	165							nucleic acid binding|zinc ion binding			lung(1)|ovary(1)	2						GACATTTTGCCAAAAAGGGCC	0.473													-	30530201	A	-	30530201	7	5	45	1	0	1	0	1	0	0	0	0	12598	131	5	0	510	0	PRR3	6	30530201	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	493296	30530201	140584866	421	36777											
HLA-B	3106	broad.mit.edu	37	chr6	31323371	31323371	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtgtgtctttggggggtcTgatgggaagagtcagaaaat	16	4	3	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:31323371T>G	uc003nth.2	-	4	674	c.620_splice	c.e4-1	p.D207_splice	HLA-C_uc003ntb.2_Splice_Site|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Splice_Site|HLA-B_uc011dnk.1_Splice_Site|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Splice_Site_p.D86_splice|HLA-B_uc003nti.1_Splice_Site|HLA-B_uc010jsn.1_Intron|HLA-B_uc010jso.2_3'UTR	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0						TTGGGGGGTCTGATGGGAAGA	0.577									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				G	31323371	T	G	31323371	5	3	45	1	0	0	0	0	0	0	1	0	7196	1594	55	5	486	5	HLA-B	6	31323371	Splice_Site	SNP	T	TCGA-BR-6852-01A-11D-1882-08	793170	31323371	139791696	422	36778											
BAT2	7916	broad.mit.edu	37	chr6	31597533	31597533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccaatgaactttgatccccGatggatgatgattcctcctt	7	12	0	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:31597533G>A	uc003nvb.3	+	14	2414	c.2165G>A	c.(2164-2166)CGA>CAA	p.R722Q	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.R722Q	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	722	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						TTTGATCCCCGATGGATGATG	0.647													A	31597533	G	A	31597533	3	1	45	1	0	0	0	0	1	0	0	0	1319	1058	37	1	2215	1	BAT2	6	31597533	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	274162	31597533	139517534	423	36779											
MSH5	4439	broad.mit.edu	37	chr6	31713067	31713067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtgtacaaagtggccaGtggactgaaggaggggctca	15	8	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:31713067G>A	uc003nwv.1	+	9	816	c.737G>A	c.(736-738)AGT>AAT	p.S246N	MSH5_uc003nwt.1_Missense_Mutation_p.S263N|MSH5_uc003nwu.1_Missense_Mutation_p.S246N|MSH5_uc003nww.1_Missense_Mutation_p.S246N|MSH5_uc003nwx.1_Missense_Mutation_p.S263N|MSH5_uc011dof.1_Intron	NM_172166	NP_751898	O43196	MSH5_HUMAN	mutS homolog 5 isoform c	246					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3						AAAGTGGCCAGTGGACTGAAG	0.478								Direct_reversal_of_damage|MMR					A	31713067	G	A	31713067	3	1	45	1	0	0	0	0	1	0	0	0	9873	1029	36	4	818	4	MSH5	6	31713067	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	115534	31713067	139402000	424	36780											
VARS	7407	broad.mit.edu	37	chr6	31747238	31747238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaggttgtagtcggcccGcagggagcgcacggctcgcg	19	11	0	1	rs138566905		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:31747238G>A	uc003nxe.2	-	28	3787	c.3364C>T	c.(3364-3366)CGG>TGG	p.R1122W	C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank|VARS_uc003nxf.1_Missense_Mutation_p.R59W	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1122					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	TAGTCGGCCCGCAGGGAGCGC	0.682													A	31747238	G	A	31747238	3	1	45	1	0	0	0	0	1	0	0	0	17120	1086	38	1	442	1	VARS	6	31747238	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	34171	31747238	139367829	425	36781											
VARS	7407	broad.mit.edu	37	chr6	31752430	31752430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttaacaaggcgggtactgCgatagatgatgccttcctcg	12	9	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:31752430C>T	uc003nxe.2	-	11	1832	c.1409G>A	c.(1408-1410)CGC>CAC	p.R470H	VARS_uc011doi.1_RNA	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	470					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	GCGGGTACTGCGATAGATGAT	0.577													T	31752430	C	T	31752430	3	4	45	1	0	0	0	0	1	0	0	0	17120	768	27	1	2465	1	VARS	6	31752430	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	5192	31752430	139362637	426	36782											
TNXB	7148	broad.mit.edu	37	chr6	32035685	32035685	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatcctgtcactgttagctcCcccaggagcggctcctcagc	10	16	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:32035685C>A	uc003nzl.2	-	18	6499	c.6297G>T	c.(6295-6297)GGG>GGT	p.G2099G		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2171	Fibronectin type-III 14.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CTGTTAGCTCCCCCAGGAGCG	0.647													A	32035685	C	A	32035685	2	1	45	1	0	0	0	0	0	0	0	1	16343	610	22	5		5	TNXB	6	32035685	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	283255	32035685	139079382	427	36783											
TAP2	6891	broad.mit.edu	37	chr6	32805788	32805788	+	Frame_Shift_Del	DEL	G	G	-													ggctctcagggagacagtcaGgggggtggccagacagagcg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:32805787_32805787AG>A	uc011dqf.1	-	1	346	c.224_224CT>T	c.(223-225)ctgfs	p.L75fs	TAP2_uc003ocb.1_Frame_Shift_Del_p.L75fs|TAP2_uc003occ.3_Frame_Shift_Del_p.L75fs|TAP2_uc003ocd.3_Frame_Shift_Del_p.L75fs	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	75					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										GGAGACAGTCAGGGGGGTGGC	0.687													-	32805788	G	-	32805788	7	5	45	1	0	1	0	1	0	0	0	0	15548	991	35	0	1966	0	TAP2	6	32805788	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	770103	32805788	138309279	428	36784											
COL11A2	1302	broad.mit.edu	37	chr6	33137233	33137233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggctctcctggctgccccGactctcctttctctccacgt	7	19	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:33137233G>A	uc003ocx.1	-	51	3953	c.3725C>T	c.(3724-3726)TCG>TTG	p.S1242L	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.S1156L|COL11A2_uc003ocz.1_Missense_Mutation_p.S1135L	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1242	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						TGGCTGCCCCGACTCTCCTTT	0.627													A	33137233	G	A	33137233	3	1	45	1	0	0	0	0	1	0	0	0	3668	1059	37	1	1549	1	COL11A2	6	33137233	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	331445	33137233	137977834	429	36785											
BAK1	578	broad.mit.edu	37	chr6	33543205	33543205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggcgagctgccgtcccaCctgccccatggtgctgtagg	14	14	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:33543205C>T	uc003oes.2	-	4	520	c.220G>A	c.(220-222)GTG>ATG	p.V74M	BAK1_uc003oer.2_Missense_Mutation_p.V4M|BAK1_uc003oet.2_RNA|BAK1_uc010jvb.2_Missense_Mutation_p.V74M|BAK1_uc003oeu.2_Missense_Mutation_p.V15M|BAK1_uc011drj.1_Missense_Mutation_p.V74M	NM_001188	NP_001179	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	74	BH3.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			ovary(1)	1						TGCCGTCCCACCTGCCCCATG	0.627													T	33543205	C	T	33543205	3	4	45	1	0	0	0	0	1	0	0	0	1305	507	18	4	427	4	BAK1	6	33543205	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	405972	33543205	137571862	430	36786											
BAK1	578	broad.mit.edu	37	chr6	33543655	33543655	+	Frame_Shift_Del	DEL	A	A	-													ctgttcctgctgatggcggtAaaaaacgtagctgcggaaaa							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:33543654_33543654TA>T	uc003oes.3	-	2	422	c.122_122TA>A	c.(121-123)tacfs	p.Y41fs	BAK1_uc003oer.3_5'Flank|BAK1_uc003oet.3_Non-coding_Transcript|BAK1_uc010jvb.3_Frame_Shift_Del_p.Y41fs|BAK1_uc003oeu.3_Intron|BAK1_uc011drj.1_Frame_Shift_Del_p.Y41fs	NM_001188	NP_001179	Q16611	BAK_HUMAN	Homo sapiens BCL2-antagonist/killer 1 (BAK1), mRNA.	41					activation of pro-apoptotic gene products|cellular response to UV|cellular response to mechanical stimulus|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						CTGATGGCGGTAAAAAACGTA	0.597													-	33543655	A	-	33543655	7	5	45	1	0	1	0	1	0	0	0	0	1305	362	13	0	530	0	BAK1	6	33543655	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	450	33543655	137571412	431	36787											
PACSIN1	29993	broad.mit.edu	37	chr6	34497328	34497328	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaagcaggatgtgcagaAggtgctggcgggcagggatg	20	6	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:34497328A>G	uc003ojo.2	+	5	817	c.611A>G	c.(610-612)AAG>AGG	p.K204R	PACSIN1_uc003ojp.2_Missense_Mutation_p.K204R	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	204	Potential.				endocytosis		protein kinase activity				0						GATGTGCAGAAGGTGCTGGCG	0.607													G	34497328	A	G	34497328	3	3	45	1	0	0	0	0	1	0	0	0	11374	86	3	3	625	3	PACSIN1	6	34497328	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	953673	34497328	136617739	432	36788											
PPARD	5467	broad.mit.edu	37	chr6	35389648	35389648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtacgagaagtgtgagCgcagctgcaagattcagaag	15	6	1	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:35389648C>T	uc003okm.2	+	5	646	c.337C>T	c.(337-339)CGC>TGC	p.R113C	PPARD_uc003okl.2_Missense_Mutation_p.R113C|PPARD_uc003okn.2_Missense_Mutation_p.R113C|PPARD_uc011dtb.1_Missense_Mutation_p.R74C|PPARD_uc011dtc.1_Intron|PPARD_uc010jvv.1_RNA	NM_006238	NP_006229	Q03181	PPARD_HUMAN	peroxisome proliferative activated receptor,	113	Nuclear receptor.|NR C4-type.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GAAGTGTGAGCGCAGCTGCAA	0.567													T	35389648	C	T	35389648	3	4	45	1	0	0	0	0	1	0	0	0	12298	768	27	1	364	1	PPARD	6	35389648	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	892320	35389648	135725419	433	36789											
TULP1	7287	broad.mit.edu	37	chr6	35473838	35473838	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatgcctcgatccatgcccTttttgtcccgggtcagccgg	10	15	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:35473838T>C	uc003okv.3	-	10	953	c.941A>G	c.(940-942)AAG>AGG	p.K314R	TULP1_uc003okw.3_Missense_Mutation_p.K261R	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	314					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			ovary(2)|central_nervous_system(1)	3						ATCCATGCCCTTTTTGTCCCG	0.672													C	35473838	T	C	35473838	3	2	45	1	0	0	0	0	1	0	0	0	16770	1609	56	3	711	3	TULP1	6	35473838	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	84190	35473838	135641229	434	36790											
PPIL1	51645	broad.mit.edu	37	chr6	36842542	36842542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaatctgggggaattgCcgccatagcgaagccggcgg	16	11	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:36842542C>T	uc003omu.2	-	1	259	c.7G>A	c.(7-9)GCA>ACA	p.A3T	C6orf89_uc003omv.2_Intron	NM_016059	NP_057143	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase-like 1	3					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	p.A3V(1)		ovary(1)	1						GGGGGAATTGCCGCCATAGCG	0.637													T	36842542	C	T	36842542	3	4	45	1	0	0	0	0	1	0	0	0	12326	739	26	2	509	2	PPIL1	6	36842542	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1368704	36842542	134272525	435	36791											
DNAH8	1769	broad.mit.edu	37	chr6	38747811	38747811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagagcgtattcttcagtaCtatgtggctgaacttgatgc	10	7	2	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:38747811C>T	uc003ooe.1	+	13	2058	c.1458C>T	c.(1456-1458)TAC>TAT	p.Y486Y		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TTCTTCAGTACTATGTGGCTG	0.328													T	38747811	C	T	38747811	2	4	45	1	0	0	0	0	0	0	0	1	4607	576	20	4		4	DNAH8	6	38747811	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1905269	38747811	132367256	436	36792											
LRFN2	57497	broad.mit.edu	37	chr6	40399747	40399747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagacctccaccatggccGtggcctctccggcagcattg	12	15	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:40399747G>A	uc003oph.1	-	2	1571	c.1106C>T	c.(1105-1107)ACG>ATG	p.T369M		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	369	Extracellular (Potential).|Ig-like.					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACCATGGCCGTGGCCTCTCC	0.607													A	40399747	G	A	40399747	3	1	45	1	0	0	0	0	1	0	0	0	8938	1145	40	1	1271	1	LRFN2	6	40399747	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1651936	40399747	130715320	437	36793											
MDFI	4188	broad.mit.edu	37	chr6	41617367	41617367	+	Frame_Shift_Del	DEL	G	G	-													atctctccaggccagcctcaGgggaaccccttgggctgcac							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:41617366_41617366AG>A	uc003oqq.4	+	3	476	c.269_269AG>A	c.(268-270)cagfs	p.Q90fs	MDFI_uc010jxn.3_Frame_Shift_Del_p.Q90fs	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Homo sapiens MyoD family inhibitor (MDFI), mRNA.	90					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus		p.P89A(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			GGCCAGCCTCAGGGGAACCCC	0.627													-	41617367	G	-	41617367	7	5	45	1	0	1	0	1	0	0	0	0	9404	991	35	0	280	0	MDFI	6	41617367	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	1217620	41617367	129497700	438	36794											
USP49	25862	broad.mit.edu	37	chr6	41773935	41773935	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggatggagttcatgtAgcaggtgttgcccaggttgc	16	7	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:41773935A>C	uc003ori.2	-	4	1009	c.787T>G	c.(787-789)TAC>GAC	p.Y263D		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	263					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAGTTCATGTAGCAGGTGTTG	0.607													C	41773935	A	C	41773935	3	2	45	1	0	0	0	0	1	0	0	0	17077	420	15	5	1151	5	USP49	6	41773935	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	156568	41773935	129341132	439	36795											
XPO5	57510	broad.mit.edu	37	chr6	43515414	43515414	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgatctgtacccacataCgcaatgaaagcatcaacatc	5	12	3	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:43515414C>T	uc003ovp.2	-	19	2302	c.2091G>A	c.(2089-2091)GCG>GCA	p.A697A		NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	697				A -> V (in Ref. 3; BAA86605).	gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TACCCACATACGCAATGAAAG	0.478													T	43515414	C	T	43515414	2	4	45	1	0	0	0	0	0	0	0	1	17444	523	19	1		1	XPO5	6	43515414	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1741479	43515414	127599653	440	36796											
TDRD6	221400	broad.mit.edu	37	chr6	46659451	46659451	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccatgtacagagtatttaAgtaaatcagtagggtacaag	10	5	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:46659451A>C	uc003oyj.2	+	1	3586	c.3586A>C	c.(3586-3588)AGT>CGT	p.S1196R	TDRD6_uc010jze.2_Missense_Mutation_p.S1190R	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1196					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			AGAGTATTTAAGTAAATCAGT	0.308													C	46659451	A	C	46659451	3	2	45	1	0	0	0	0	1	0	0	0	15731	72	3	5	3588	5	TDRD6	6	46659451	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	3144037	46659451	124455616	441	36797											
PLA2G7	7941	broad.mit.edu	37	chr6	46679257	46679257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatttcgtatatgtgtctcCtcctcttgtttcagggttct	7	10	5	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:46679257C>T	uc010jzf.2	-	7	908	c.639G>A	c.(637-639)GAG>GAA	p.E213E	PLA2G7_uc010jzg.1_Silent_p.E213E|PLA2G7_uc011dwd.1_Silent_p.E168E|PLA2G7_uc011dwe.1_Silent_p.E86E	NM_005084	NP_005075	Q13093	PAFA_HUMAN	phospholipase A2, group VII	213					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding				0			Lung(136;0.192)			TATGTGTCTCCTCCTCTTGTT	0.408													T	46679257	C	T	46679257	2	4	45	1	0	0	0	0	0	0	0	1	12009	680	24	4		4	PLA2G7	6	46679257	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	19806	46679257	124435810	442	36798											
GPR111	222611	broad.mit.edu	37	chr6	47649996	47649996	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcatctctgttttcagtgggCtatggatgccctttggccat	11	10	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:47649996C>A	uc010jzj.1	+	6	1702	c.1701C>A	c.(1699-1701)GGC>GGA	p.G567G	GPR111_uc010jzk.1_Silent_p.G499G|GPR111_uc003oyy.2_RNA	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	G-protein coupled receptor 111	567	Helical; Name=4; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						TTTCAGTGGGCTATGGATGCC	0.507													A	47649996	C	A	47649996	2	1	45	1	0	0	0	0	0	0	0	1	6628	784	28	5		5	GPR111	6	47649996	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	970739	47649996	123465071	443	36799											
MCM3	4172	broad.mit.edu	37	chr6	52144285	52144285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaatgacgtccacagagCgggggagctggccggctggg	18	11	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:52144285C>T	uc003pan.1	-	5	754	c.644G>A	c.(643-645)CGC>CAC	p.R215H	MCM3_uc011dwu.1_Missense_Mutation_p.R169H	NM_002388	NP_002379	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	215					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)|lung(1)|skin(1)	3	Lung NSC(77;0.0931)					GTCCACAGAGCGGGGGAGCTG	0.562													T	52144285	C	T	52144285	3	4	45	1	0	0	0	0	1	0	0	0	9387	768	27	1	1834	1	MCM3	6	52144285	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	4494289	52144285	118970782	444	36800											
OOEP	441161	broad.mit.edu	37	chr6	74078937	74078937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaccctcacctcgggcaCgatgttctcggtgaaaccat	9	13	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:74078937C>T	uc003pgu.3	-	2	362	c.362G>A	c.(361-363)CGT>CAT	p.R121H	OOEP_uc003pgv.3_Missense_Mutation_p.R66H	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	oocyte expressed protein homolog	121						cytoplasm					0						ACCTCGGGCACGATGTTCTCG	0.557													T	74078937	C	T	74078937	3	4	45	1	0	0	0	0	1	0	0	0	10870	536	19	1	95	1	OOEP	6	74078937	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	21934652	74078937	97036130	445	36801											
IBTK	25998	broad.mit.edu	37	chr6	82950101	82950101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaatgactggagagaaaggCcttaatctggttttcgctcc	10	9	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:82950101C>T	uc003pjl.1	-	2	630	c.103G>A	c.(103-105)GCC>ACC	p.A35T	IBTK_uc011dyv.1_Missense_Mutation_p.A35T|IBTK_uc011dyw.1_Missense_Mutation_p.A35T|IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.2_Missense_Mutation_p.A35T	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	35					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GAGAGAAAGGCCTTAATCTGG	0.468													T	82950101	C	T	82950101	3	4	45	1	0	0	0	0	1	0	0	0	7476	739	26	2	4070	2	IBTK	6	82950101	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	8871164	82950101	88164966	446	36802											
MANEA	79694	broad.mit.edu	37	chr6	96053719	96053719	+	Frame_Shift_Del	DEL	A	A	-													ttcctatattaccaagcctgAaaaatgggccaatctgttaa							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:96053718_96053718GA>G	uc003poo.2	+	4	1006	c.826_826GA>G	c.(826-828)gaafs	p.E276fs		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	Homo sapiens mannosidase, endo-alpha (MANEA), mRNA.	276	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TACCAAGCCTGAAAAATGGGC	0.403													-	96053719	A	-	96053719	7	5	45	1	0	1	0	1	0	0	0	0	9221	246	9	0	841	0	MANEA	6	96053719	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	13103618	96053719	75061348	447	36803											
ASCC3	10973	broad.mit.edu	37	chr6	101053556	101053556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactgcggcctcccagcacGccccatcatctggaggacat	10	16	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:101053556G>A	uc003pqk.2	-	33	5394	c.5065C>T	c.(5065-5067)CGT>TGT	p.R1689C		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1689	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTCCCAGCACGCCCCATCATC	0.383													A	101053556	G	A	101053556	3	1	45	1	0	0	0	0	1	0	0	0	1033	1087	38	1	1583	1	ASCC3	6	101053556	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	4999837	101053556	70061511	448	36804											
GRIK2	2898	broad.mit.edu	37	chr6	102266333	102266333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagattccttatccaatcGttctttgattgttaccacca	4	12	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:102266333G>A	uc003pqp.3	+	9	1541	c.1292G>A	c.(1291-1293)CGT>CAT	p.R431H	GRIK2_uc003pqn.2_Missense_Mutation_p.R431H|GRIK2_uc003pqo.3_Missense_Mutation_p.R431H|GRIK2_uc010kcw.2_Missense_Mutation_p.R431H	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	431	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTATCCAATCGTTCTTTGATT	0.368													A	102266333	G	A	102266333	3	1	45	1	0	0	0	0	1	0	0	0	6774	1145	40	1	1326	1	GRIK2	6	102266333	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1212777	102266333	68848734	449	36805											
BEND3	57673	broad.mit.edu	37	chr6	107390838	107390838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcggcgacccggccgctcGccctcgaagctgtcctccac	12	19	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:107390838G>A	uc003prs.2	-	5	2207	c.1557C>T	c.(1555-1557)GGC>GGT	p.G519G		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	519										ovary(3)	3						CCGGCCGCTCGCCCTCGAAGC	0.642													A	107390838	G	A	107390838	2	1	45	1	0	0	0	0	0	0	0	1	1399	1074	38	1		1	BEND3	6	107390838	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	5124505	107390838	63724229	450	36806											
GPR6	2830	broad.mit.edu	37	chr6	110300547	110300547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgaatccgtgggacgtgCtcctgtgcgtgtcggggaca	17	10	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:110300547C>T	uc011eaw.1	+	2	412	c.232C>T	c.(232-234)CTC>TTC	p.L78F	GPR6_uc011eav.1_Missense_Mutation_p.L93F|GPR6_uc003ptu.2_Missense_Mutation_p.L78F	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	78	Helical; Name=1; (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GTGGGACGTGCTCCTGTGCGT	0.677													T	110300547	C	T	110300547	3	4	45	1	0	0	0	0	1	0	0	0	6701	797	28	2	234	2	GPR6	6	110300547	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2909709	110300547	60814520	451	36807											
KPNA5	3841	broad.mit.edu	37	chr6	117010486	117010486	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttctccttcctttaagatgCcatggctagtccagggaaag	9	10	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:117010486C>A	uc003pxh.2	+	2	139	c.8C>A	c.(7-9)GCC>GAC	p.A3D		NM_002269	NP_002260	O15131	IMA5_HUMAN	karyopherin alpha 5	Error:Variant_position_missing_in_O15131_after_alignment					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(3)|skin(1)	4		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		CTTTAAGATGCCATGGCTAGT	0.368													A	117010486	C	A	117010486	3	1	45	1	0	0	0	0	1	0	0	0	8433	739	26	5	14	5	KPNA5	6	117010486	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	6709939	117010486	54104581	452	36808											
GPRC6A	222545	broad.mit.edu	37	chr6	117130556	117130556	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaacctatgacagccttaActcttggcatgtagctggaa	9	10	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:117130556A>C	uc003pxj.1	-	2	441	c.419T>G	c.(418-420)GTT>GGT	p.V140G	GPRC6A_uc003pxk.1_Missense_Mutation_p.V140G|GPRC6A_uc003pxl.1_Missense_Mutation_p.V140G	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	140	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GACAGCCTTAACTCTTGGCAT	0.448													C	117130556	A	C	117130556	3	2	45	1	0	0	0	0	1	0	0	0	6728	43	2	5	2381	5	GPRC6A	6	117130556	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	120070	117130556	53984511	453	36809											
RFX6	222546	broad.mit.edu	37	chr6	117248667	117248667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacacaggagctgccagctGccaaggagcaacactgcctc	10	15	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:117248667G>A	uc003pxm.2	+	17	2426	c.2363G>A	c.(2362-2364)TGC>TAC	p.C788Y		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	788					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						GCTGCCAGCTGCCAAGGAGCA	0.418													A	117248667	G	A	117248667	3	1	45	1	0	0	0	0	1	0	0	0	13267	1319	46	2	2429	2	RFX6	6	117248667	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	118111	117248667	53866400	454	36810											
C6orf170	221322	broad.mit.edu	37	chr6	121563353	121563353	+	Frame_Shift_Del	DEL	T	T	-													atggtaattcatacctgtaaTttttttgcatatcgattgaa							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:121563352_121563352AT>A	uc003pyo.1	-	17	2220	c.2152_2152AT>T	c.(2152-2154)ttafs	p.L718fs	C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc003pyp.1_Frame_Shift_Del_p.L237fs	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	718					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	p.K717fs*29(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		CATACCTGTAATTTTTTTGCA	0.338													-	121563353	T	-	121563353	7	5	45	1	0	1	0	1	0	0	0	0	2344	1490	52	0	1682	0	C6orf170	6	121563353	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	4314686	121563353	49551714	455	36811											
CLVS2	134829	broad.mit.edu	37	chr6	123319047	123319047	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatatggtcatcaccaggcCggacattggctttctgcgca	12	11	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:123319047C>A	uc003pzi.1	+	2	994	c.125C>A	c.(124-126)CCG>CAG	p.P42Q		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	42					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						ATCACCAGGCCGGACATTGGC	0.567													A	123319047	C	A	123319047	3	1	45	1	0	0	0	0	1	0	0	0	3572	652	23	5	127	5	CLVS2	6	123319047	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1755694	123319047	47796020	456	36812											
NKAIN2	154215	broad.mit.edu	37	chr6	124676486	124676486	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatttggaggctggggaccTctcaaaggtaatttacatct	10	8	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:124676486T>C	uc003pzo.2	+	3	543	c.266T>C	c.(265-267)CTC>CCC	p.L89P	NKAIN2_uc003pzn.1_Missense_Mutation_p.L89P|NKAIN2_uc003pzp.2_Missense_Mutation_p.L88P|NKAIN2_uc010keq.2_Missense_Mutation_p.L89P|NKAIN2_uc010ker.2_5'UTR	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	T-cell lymphoma breakpoint-associated target 1	89						integral to membrane|plasma membrane					0				GBM - Glioblastoma multiforme(226;0.104)		GCTGGGGACCTCTCAAAGGTA	0.438													C	124676486	T	C	124676486	3	2	45	1	0	0	0	0	1	0	0	0	10436	1551	54	3	276	3	NKAIN2	6	124676486	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1357439	124676486	46438581	457	36813											
C6orf174	387104	broad.mit.edu	37	chr6	127796581	127796581	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctcgtgctcccggatgcGgctgccgtcgtcctcctcgt	12	17	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:127796581G>T	uc003qbd.2	-	6	3455	c.2590C>A	c.(2590-2592)CGC>AGC	p.R864S	C6orf174_uc003qbc.2_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	864						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		TCCCGGATGCGGCTGCCGTCG	0.642													T	127796581	G	T	127796581	3	4	45	1	0	0	0	0	1	0	0	0	2345	1116	39	5	261	5	C6orf174	6	127796581	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	3120095	127796581	43318486	458	36814											
TMEM200A	114801	broad.mit.edu	37	chr6	130761596	130761596	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactggtggagtgataactgGcctggccgccttgaaaaggc	14	9	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:130761596G>T	uc003qca.2	+	3	900	c.29G>T	c.(28-30)GGC>GTC	p.G10V	TMEM200A_uc010kfh.2_Missense_Mutation_p.G10V|TMEM200A_uc010kfi.2_Missense_Mutation_p.G10V|TMEM200A_uc003qcb.2_Missense_Mutation_p.G10V	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	10	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTGATAACTGGCCTGGCCGCC	0.488													T	130761596	G	T	130761596	3	4	45	1	0	0	0	0	1	0	0	0	16120	1203	42	5	31	5	TMEM200A	6	130761596	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2965015	130761596	40353471	459	36815											
TMEM200A	114801	broad.mit.edu	37	chr6	130762913	130762913	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttgcttgtgccccaagttgCcatcaaaaaggactttacca	8	11	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:130762913C>G	uc003qca.2	+	3	2217	c.1346C>G	c.(1345-1347)GCC>GGC	p.A449G	TMEM200A_uc010kfh.2_Missense_Mutation_p.A449G|TMEM200A_uc010kfi.2_Missense_Mutation_p.A449G|TMEM200A_uc003qcb.2_Missense_Mutation_p.A449G	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	449	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCCCAAGTTGCCATCAAAAAG	0.393													G	130762913	C	G	130762913	3	3	45	1	0	0	0	0	1	0	0	0	16120	739	26	5	1348	5	TMEM200A	6	130762913	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1317	130762913	40352154	460	36816											
ENPP1	5167	broad.mit.edu	37	chr6	132176075	132176075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattacccaggtttgaaacGcctcctaccctcttattttc	4	14	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:132176075G>A	uc011ecf.1	+	6	647	c.627G>A	c.(625-627)ACG>ACA	p.T209T		NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	209	Phosphodiesterase.|Extracellular (Potential).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GGTTTGAAACGCCTCCTACCC	0.393													A	132176075	G	A	132176075	2	1	45	1	0	0	0	0	0	0	0	1	5129	1074	38	1		1	ENPP1	6	132176075	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1413162	132176075	38938992	461	36817											
MAP7	9053	broad.mit.edu	37	chr6	136698972	136698972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggagtctgttaacaacGctgctctcccatgggctgag	12	11	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:136698972G>A	uc003qgz.2	-	7	918	c.672C>T	c.(670-672)AGC>AGT	p.S224S	MAP7_uc011edf.1_Silent_p.S209S|MAP7_uc011edg.1_Silent_p.S246S|MAP7_uc010kgu.2_Silent_p.S246S|MAP7_uc011edh.1_Silent_p.S209S|MAP7_uc010kgv.2_Silent_p.S246S|MAP7_uc010kgs.2_Silent_p.S78S|MAP7_uc011edi.1_Silent_p.S78S|MAP7_uc010kgq.1_Silent_p.S130S|MAP7_uc003qha.1_Silent_p.S187S|MAP7_uc010kgr.2_Silent_p.S78S|MAP7_uc010kgt.2_Silent_p.S246S	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	224					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TGTTAACAACGCTGCTCTCCC	0.502													A	136698972	G	A	136698972	2	1	45	1	0	0	0	0	0	0	0	1	9266	1078	38	1		1	MAP7	6	136698972	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	4522897	136698972	34416095	462	36818											
MAP7	9053	broad.mit.edu	37	chr6	136742893	136742893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaattgcagaggcagggcGgctggaggcatttttcttat	14	6	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:136742893G>A	uc003qgz.2	-	2	358	c.112C>T	c.(112-114)CGC>TGC	p.R38C	MAP7_uc011edf.1_Missense_Mutation_p.R23C|MAP7_uc011edg.1_Missense_Mutation_p.R60C|MAP7_uc010kgu.2_Missense_Mutation_p.R60C|MAP7_uc011edh.1_Missense_Mutation_p.R60C|MAP7_uc010kgv.2_Missense_Mutation_p.R60C|MAP7_uc010kgs.2_5'UTR|MAP7_uc011edi.1_5'UTR|MAP7_uc010kgq.1_Missense_Mutation_p.R38C|MAP7_uc003qha.1_Missense_Mutation_p.R38C|MAP7_uc010kgr.2_Intron|MAP7_uc010kgt.2_Missense_Mutation_p.R60C	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	38					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GAGGCAGGGCGGCTGGAGGCA	0.378													A	136742893	G	A	136742893	3	1	45	1	0	0	0	0	1	0	0	0	9266	1116	39	1	2205	1	MAP7	6	136742893	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	43921	136742893	34372174	463	36819											
TNFAIP3	7128	broad.mit.edu	37	chr6	138202374	138202374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaagcagcgttgccgggCccccgcctgtgatcattttg	11	16	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:138202374C>T	uc003qhr.2	+	9	2357	c.2291C>T	c.(2290-2292)GCC>GTC	p.A764V	TNFAIP3_uc003qhs.2_Missense_Mutation_p.A764V	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	764	Interaction with NAF1 (By similarity).|A20-type 7.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(22)|p.A764fs*28(1)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CGTTGCCGGGCCCCCGCCTGT	0.607			D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma								T	138202374	C	T	138202374	3	4	45	1	0	0	0	0	1	0	0	0	16271	739	26	2	2321	2	TNFAIP3	6	138202374	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1459481	138202374	32912693	464	36820											
GPR126	57211	broad.mit.edu	37	chr6	142741019	142741020	+	Frame_Shift_Ins	INS	-	-	T													tgggtattttggagtcatgtINStttttctgaacattgccatg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:142741018_142741019G>GT	uc010khe.3	+	21	3507_3508	c.3096_3097G>GT	c.(3094-3099)atgtttfs	p.M1032fs	GPR126_uc010khc.3_Frame_Shift_Ins_p.M1032fs|GPR126_uc010khd.3_Frame_Shift_Ins_p.M1004fs|GPR126_uc010khf.3_Frame_Shift_Ins_p.M1004fs|GPR126_uc011edv.2_Frame_Shift_Ins_p.M92fs	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	1032					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TTGGAGTCATGTTTTTTCTGAA	0.381													T	142741020	-	T	142741019	7	5	45	1	0	1	1	0	0	0	0	0	6640	1725	60	0	3183	0	GPR126	6	142741019	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	4538645	142741019	28374048	465	36821											
HIVEP2	3097	broad.mit.edu	37	chr6	143095843	143095843	+	Frame_Shift_Del	DEL	T	T	-													tctccagaccttgaggtagcTttttgtcctagagctgtgtc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:143095842_143095842CT>C	uc003qjd.3	-	4	777	c.34_34AG>G	c.(34-36)gctfs	p.A12fs		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTTGAGGTAGCTTTTTGTCCT	0.448													-	143095843	T	-	143095843	7	5	45	1	0	1	0	1	0	0	0	0	7187	1606	56	0	7331	0	HIVEP2	6	143095843	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	354824	143095843	28019224	466	36822											
GRM1	2911	broad.mit.edu	37	chr6	146351044	146351044	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gggactctctgatttccattCgagatgagaaggatgggatc	13	7	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:146351044C>A	uc010khw.1	+	2	861	c.391C>A	c.(391-393)CGA>AGA	p.R131R	GRM1_uc010khu.1_Silent_p.R131R|GRM1_uc010khv.1_Silent_p.R131R|GRM1_uc003qll.2_Silent_p.R131R|GRM1_uc011edz.1_Silent_p.R131R|GRM1_uc011eea.1_Silent_p.R131R	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	131	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GATTTCCATTCGAGATGAGAA	0.582													A	146351044	C	A	146351044	2	1	45	1	0	0	0	0	0	0	0	1	6796	876	31	5		5	GRM1	6	146351044	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3255201	146351044	24764023	467	36823											
GRM1	2911	broad.mit.edu	37	chr6	146755374	146755375	+	Frame_Shift_Ins	INS	-	-	C													tcctggccgaaccagccctcINScccaagggcttgccccctcc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:146755373_146755374T>TC	uc010khw.1	+	8	3496_3497	c.3026_3027T>TC	c.(3025-3027)ctcfs	p.L1009fs	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	1009					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GAACCAGCCCTCCCCAAGGGCT	0.658													C	146755375	-	C	146755374	7	5	45	1	0	1	1	0	0	0	0	0	6796	842	30	0	3122	0	GRM1	6	146755374	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	404330	146755374	24359693	468	36824											
LATS1	9113	broad.mit.edu	37	chr6	150005455	150005455	+	Frame_Shift_Del	DEL	G	G	-													gtggagttgtacctcttggaGggggagtctggcctcttgga							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:150005454_150005454AG>A	uc003qmu.1	-	3	1319	c.771_771CT>T	c.(769-771)cctfs	p.P257fs	LATS1_uc010kif.1_Frame_Shift_Del_p.P152fs|LATS1_uc003qmv.2_Frame_Shift_Del_p.P257fs|LATS1_uc003qmw.3_Frame_Shift_Del_p.P257fs|LATS1_uc010kig.1_Frame_Shift_Del_p.P152fs	NM_004690	NP_004681	O95835	LATS1_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 1 (Drosophila) (LATS1), mRNA.	257					G2/M transition of mitotic cell cycle|cell division|cytoplasmic sequestering of protein|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TACCTCTTGGAGGGGGAGTCT	0.527													-	150005455	G	-	150005455	7	5	45	1	0	1	0	1	0	0	0	0	8646	1000	35	0	2642	0	LATS1	6	150005455	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	3250081	150005455	21109612	469	36825											
PLEKHG1	57480	broad.mit.edu	37	chr6	151054849	151054849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatagtgaccgacccgtcaGcttcggttccacatcatcct	8	14	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:151054849G>A	uc003qny.1	+	3	344	c.32G>A	c.(31-33)AGC>AAC	p.S11N	PLEKHG1_uc011eel.1_Missense_Mutation_p.S51N|PLEKHG1_uc011eem.1_Missense_Mutation_p.S70N|PLEKHG1_uc003qnz.2_Missense_Mutation_p.S11N	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	11					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CGACCCGTCAGCTTCGGTTCC	0.527													A	151054849	G	A	151054849	3	1	45	1	0	0	0	0	1	0	0	0	12068	971	34	2	34	2	PLEKHG1	6	151054849	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1049394	151054849	20060218	470	36826											
C6orf211	79624	broad.mit.edu	37	chr6	151789994	151789994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatatgctgaactacagaagGcacatttaattttattcaag	6	6	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:151789994G>A	uc003qok.1	+	5	1334	c.1075G>A	c.(1075-1077)GCA>ACA	p.A359T	C6orf211_uc011ees.1_Missense_Mutation_p.A240T	NM_024573	NP_078849	Q9H993	CF211_HUMAN	hypothetical protein LOC79624	359							protein binding				0			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		ACTACAGAAGGCACATTTAAT	0.403													A	151789994	G	A	151789994	3	1	45	1	0	0	0	0	1	0	0	0	2354	1203	42	2	1093	2	C6orf211	6	151789994	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	735145	151789994	19325073	471	36827											
SYNE1	23345	broad.mit.edu	37	chr6	152734552	152734552	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtttatctccctgtcaacTtcaggtgcaaaagctacatc	7	12	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:152734552T>G	uc010kiw.2	-	42	6767	c.6165A>C	c.(6163-6165)GAA>GAC	p.E2055D	SYNE1_uc003qot.3_Missense_Mutation_p.E2062D|SYNE1_uc003qou.3_Missense_Mutation_p.E2055D|SYNE1_uc010kjb.1_Missense_Mutation_p.E2038D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2055	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)		CCCTGTCAACTTCAGGTGCAA	0.403										HNSCC(10;0.0054)			G	152734552	T	G	152734552	3	3	45	1	0	0	0	0	1	0	0	0	15442	1606	56	5	20721	5	SYNE1	6	152734552	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	944558	152734552	18380515	472	36828											
TULP4	56995	broad.mit.edu	37	chr6	158900838	158900838	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcgaggctgttgatggcatCaggaccagccctgtacgtgg	14	10	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:158900838C>T	uc003qrf.2	+	7	2439	c.1082C>T	c.(1081-1083)TCA>TTA	p.S361L	TULP4_uc011efo.1_Missense_Mutation_p.S361L|TULP4_uc003qrg.2_Missense_Mutation_p.S361L	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	361					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TTGATGGCATCAGGACCAGCC	0.602													T	158900838	C	T	158900838	3	4	45	1	0	0	0	0	1	0	0	0	16773	838	29	4	1108	4	TULP4	6	158900838	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	6166286	158900838	12214229	473	36829											
AGPAT4	56895	broad.mit.edu	37	chr6	161560486	161560486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggatgaagctggccagcGtcagggaagacccgctcctg	15	12	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:161560486G>A	uc003qtr.1	-	8	1237	c.1010C>T	c.(1009-1011)ACG>ATG	p.T337M	AGPAT4_uc003qts.1_Missense_Mutation_p.T197M|AGPAT4_uc011egb.1_Missense_Mutation_p.T175M	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	337					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding				0		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		GCTGGCCAGCGTCAGGGAAGA	0.622													A	161560486	G	A	161560486	3	1	45	1	0	0	0	0	1	0	0	0	389	1145	40	1	134	1	AGPAT4	6	161560486	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2659648	161560486	9554581	474	36830											
C6orf118	168090	broad.mit.edu	37	chr6	165715715	165715715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagggtcttcactcctggCgtctcgcagtgcttcagatt	10	13	4	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:165715715C>T	uc003qum.3	-	2	132	c.96G>A	c.(94-96)ACG>ACA	p.T32T	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	32											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCACTCCTGGCGTCTCGCAGT	0.522													T	165715715	C	T	165715715	2	4	45	1	0	0	0	0	0	0	0	1	2323	755	27	1		1	C6orf118	6	165715715	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	4155229	165715715	5399352	475	36831											
GPR31	2853	broad.mit.edu	37	chr6	167570859	167570859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtggagttctgggcggccTcagagatgagcaagcccggg	18	9	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:167570859T>C	uc011egq.1	-	1	461	c.461A>G	c.(460-462)GAG>GGG	p.E154G		NM_005299	NP_005290	O00270	GPR31_HUMAN	G protein-coupled receptor 31	154	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		CTGGGCGGCCTCAGAGATGAG	0.622													C	167570859	T	C	167570859	3	2	45	1	0	0	0	0	1	0	0	0	6687	1551	54	3	501	3	GPR31	6	167570859	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1855144	167570859	3544208	476	36832											
MLLT4	4301	broad.mit.edu	37	chr6	168272982	168272982	+	Frame_Shift_Del	DEL	A	A	-													ctcaaagaaagaaaagaaggAaaaaaagaagagagaaaaag							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:168272981_168272981GA>G	uc021zik.1	+	3	698	c.379_379GA>G	c.(379-381)gaafs	p.E127fs	MLLT4_uc003qwb.1_Frame_Shift_Del_p.E167fs|MLLT4_uc003qwc.2_Frame_Shift_Del_p.E168fs|MLLT4_uc021zij.1_Frame_Shift_Del_p.E167fs	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	168	Ras-associating 1.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		agaaaagaaggaaaaaaagaa	0.393			T	MLL	AL								-	168272982	A	-	168272982	7	5	45	1	0	1	0	1	0	0	0	0	9629	246	9	0	517	0	MLLT4	6	168272982	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	702123	168272982	2842085	477	36833											
MLLT4	4301	broad.mit.edu	37	chr6	168289993	168289993	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacaaatcttcagggaatgGccaagtgacaaaggtagtaa	10	6	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr6:168289993G>A	uc003qwd.2	+	7	1135	c.993G>A	c.(991-993)TGG>TGA	p.W331*	MLLT4_uc003qwb.1_Nonsense_Mutation_p.W331*|MLLT4_uc003qwc.1_Nonsense_Mutation_p.W332*|MLLT4_uc003qwf.2_Nonsense_Mutation_p.W32*	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	332	Ras-associating 2.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCAGGGAATGGCCAAGTGACA	0.398			T	MLL	AL								A	168289993	G	A	168289993	4	1	45	1	0	0	0	0	0	1	0	0	9629	1212	42	2	1022	2	MLLT4	6	168289993	Nonsense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	17011	168289993	2825074	478	36834											
SUN1	23353	broad.mit.edu	37	chr7	883121	883121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccgcggcccccgggcccGtgtcgagagtttattctagg	13	15	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:883121G>A	uc011jvp.1	+	6	701	c.622G>A	c.(622-624)GTG>ATG	p.V208M	SUN1_uc010ksa.1_Missense_Mutation_p.V229M|SUN1_uc003sje.1_Missense_Mutation_p.V208M|SUN1_uc003sjf.2_Missense_Mutation_p.V158M|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_Missense_Mutation_p.V19M	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	208	Nuclear.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						CCCCGGGCCCGTGTCGAGAGT	0.542													A	883121	G	A	883121	3	1	45	1	0	0	0	0	1	0	0	0	15388	1145	40	1	707	1	SUN1	7	883121	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08		883121	158255542	479	36835											
C7orf50	84310	broad.mit.edu	37	chr7	1037358	1037358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcccgcatcagggcttccGccttctgcaccgtcagctct	9	18	4	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:1037358G>A	uc003sju.2	-	5	558	c.488C>T	c.(487-489)GCG>GTG	p.A163V	C7orf50_uc003sjs.2_RNA|C7orf50_uc011jvt.1_Missense_Mutation_p.A163V|C7orf50_uc011jvu.1_Missense_Mutation_p.A163V	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN	hypothetical protein LOC84310	163							protein binding				0		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CAGGGCTTCCGCCTTCTGCAC	0.677													A	1037358	G	A	1037358	3	1	45	1	0	0	0	0	1	0	0	0	2399	1087	38	1	100	1	C7orf50	7	1037358	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	154237	1037358	158101305	480	36836											
INTS1	26173	broad.mit.edu	37	chr7	1511207	1511207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagccccatccagctcacCgagaagaagctcaggatctc	8	16	4	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:1511207C>T	uc003skn.2	-	45	6356	c.6255G>A	c.(6253-6255)TCG>TCA	p.S2085S	INTS1_uc003skm.1_Silent_p.S222S	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	2085					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCCAGCTCACCGAGAAGAAGC	0.632													T	1511207	C	T	1511207	2	4	45	1	0	0	0	0	0	0	0	1	7775	666	23	1		1	INTS1	7	1511207	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	473849	1511207	157627456	481	36837											
CARD11	84433	broad.mit.edu	37	chr7	2962854	2962854	+	Frame_Shift_Del	DEL	C	C	-													cgaagctccctcgcgcgttgCcccccagcagggtgagctgg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:2962853_2962853GC>G	uc003smv.3	-	15	2389	c.2055_2055GC>C	c.(2053-2055)ggcfs	p.G685fs		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	685	PDZ.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.V685M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTCGCGCGTTGCCCCCCAGCA	0.701			Mis		DLBCL								-	2962854	C	-	2962854	7	5	45	1	0	1	0	1	0	0	0	0	2645	739	26	0	1450	0	CARD11	7	2962854	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	1451647	2962854	156175809	482	36838											
CARD11	84433	broad.mit.edu	37	chr7	2984023	2984023	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggttagcagctccacgcgCgtcagcgtcatctgcttctt	10	13	4	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:2984023C>T	uc003smv.2	-	5	911	c.507G>A	c.(505-507)ACG>ACA	p.T169T		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	169	Potential.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTCCACGCGCGTCAGCGTCA	0.572			Mis		DLBCL								T	2984023	C	T	2984023	2	4	45	1	0	0	0	0	0	0	0	1	2645	755	27	1		1	CARD11	7	2984023	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	21169	2984023	156154640	483	36839											
COL28A1	340267	broad.mit.edu	37	chr7	7412846	7412846	+	Frame_Shift_Del	DEL	T	T	-													tcagtgatgaccaaggccacTttttttacacctggccttgc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:7412845_7412845CT>C	uc003src.1	-	31	2809	c.2692_2692AG>G	c.(2692-2694)gtgfs	p.V898fs	COL28A1_uc011jxe.1_Frame_Shift_Del_p.V581fs	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	898	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ACCAAGGCCACTTTTTTTACA	0.473													-	7412846	T	-	7412846	7	5	45	1	0	1	0	1	0	0	0	0	3686	1606	56	0	702	0	COL28A1	7	7412846	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	4428823	7412846	151725817	484	36840											
MIOS	54468	broad.mit.edu	37	chr7	7612723	7612723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccttgctggtatgcatcGtaacctagctatatttgatc	7	10	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:7612723G>A	uc003srf.2	+	4	925	c.617G>A	c.(616-618)CGT>CAT	p.R206H	MIOS_uc010ktp.1_Missense_Mutation_p.R206H	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	206	WD 3.										0						GGTATGCATCGTAACCTAGCT	0.413													A	7612723	G	A	7612723	3	1	45	1	0	0	0	0	1	0	0	0	9589	1145	40	1	619	1	MIOS	7	7612723	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	199877	7612723	151525940	485	36841											
RPA3	6119	broad.mit.edu	37	chr7	7680018	7680018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagcatgccggcgttgatgCgcgacctgggcaagtccatc	13	13	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:7680018C>T	uc003sri.2	-	5	1204	c.32G>A	c.(31-33)CGC>CAC	p.R11H	RPA3_uc003srh.2_5'Flank	NM_002947	NP_002938	P35244	RFA3_HUMAN	replication protein A3, 14kDa	11					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	cytoplasm|DNA replication factor A complex|nucleoplasm	protein binding|single-stranded DNA binding			large_intestine(1)	1		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		GGCGTTGATGCGCGACCTGGG	0.592								Direct_reversal_of_damage|NER					T	7680018	C	T	7680018	3	4	45	1	0	0	0	0	1	0	0	0	13538	768	27	1	349	1	RPA3	7	7680018	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	67295	7680018	151458645	486	36842											
TMEM106B	54664	broad.mit.edu	37	chr7	12263918	12263918	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggattggctgtgtttttcctTttccctcgctctatcgacgt	9	11	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:12263918T>C	uc011jxk.1	+	5	748	c.348T>C	c.(346-348)CTT>CTC	p.L116L	TMEM106B_uc003ssh.2_Silent_p.L116L	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	116	Helical; (Potential).					integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		TGTTTTTCCTTTTCCCTCGCT	0.378													C	12263918	T	C	12263918	2	2	45	1	0	0	0	0	0	0	0	1	16018	1828	64	3		3	TMEM106B	7	12263918	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	4583900	12263918	146874745	487	36843											
DNAH11	8701	broad.mit.edu	37	chr7	21640745	21640745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcttgttaaccataattAagaaatggagctggatgttt	10	4	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:21640745A>G	uc003svc.2	+	17	3404	c.3373A>G	c.(3373-3375)AAG>GAG	p.K1125E		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1125	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AACCATAATTAAGAAATGGAG	0.348									Kartagener_syndrome				G	21640745	A	G	21640745	3	3	45	1	0	0	0	0	1	0	0	0	4599	363	13	3	3439	3	DNAH11	7	21640745	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	9376827	21640745	137497918	488	36844											
MPP6	51678	broad.mit.edu	37	chr7	24705666	24705667	+	Frame_Shift_Ins	INS	-	-	A													ttgtggaactataagtagcaINSaaaaaaagaaaaagatgatg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:24705665_24705666C>CA	uc003swx.3	+	8	1208_1209	c.909_910C>CA	c.(907-912)agcaaafs	p.S303fs	MPP6_uc003swy.3_Frame_Shift_Ins_p.S303fs	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	303					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						CTATAAGTAGCAAAAAAAAGAA	0.302													A	24705667	-	A	24705666	7	5	45	1	0	1	1	0	0	0	0	0	9738	131	5	0	936	0	MPP6	7	24705666	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	3064921	24705666	134432997	489	36845											
SNX10	29887	broad.mit.edu	37	chr7	26404689	26404689	+	Frame_Shift_Del	DEL	A	A	-													aactgccagaacttccatctAaaaacctgtttttcaacatg					rs141037310		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:26404688_26404688TA>T	uc011jzg.2	+	5	570	c.303_303TA>T	c.(301-303)tctfs	p.S101fs	SNX10_uc003sxx.3_Frame_Shift_Del_p.S78fs|SNX10_uc010kuu.3_Frame_Shift_Del_p.S78fs|SNX10_uc010kuv.3_Frame_Shift_Del_p.S75fs|SNX10_uc010kuw.3_5'UTR	NM_001199838	NP_001186767	Q9Y5X0	SNX10_HUMAN	Homo sapiens sorting nexin 10 (SNX10), transcript variant 4, mRNA.	78	PX.				cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						AACTTCCATCTAAAAACCTGT	0.413											OREG0017908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	26404689	A	-	26404689	7	5	45	1	0	1	0	1	0	0	0	0	14881	363	13	0	249	0	SNX10	7	26404689	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	1699023	26404689	132733974	490	36846											
SKAP2	8935	broad.mit.edu	37	chr7	26729927	26729927	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtgatggacactatccTgactcatcttcctttgttct	8	10	3	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:26729927T>C	uc003syc.2	-	10	1144	c.851A>G	c.(850-852)CAG>CGG	p.Q284R	SKAP2_uc011jzi.1_Missense_Mutation_p.Q112R|SKAP2_uc011jzj.1_Missense_Mutation_p.Q269R	NM_003930	NP_003921	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	284					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			pancreas(1)	1						GACACTATCCTGACTCATCTT	0.393													C	26729927	T	C	26729927	3	2	45	1	0	0	0	0	1	0	0	0	14356	1580	55	3	240	3	SKAP2	7	26729927	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	325238	26729927	132408736	491	36847											
HOXA1	3198	broad.mit.edu	37	chr7	27134370	27134370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtagtgaagttggtgcGcaccgcgttgggttgaccca	15	9	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:27134370G>A	uc003sye.2	-	2	791	c.697C>T	c.(697-699)CGC>TGC	p.R233C	HOXA1_uc003syd.2_3'UTR|uc003syg.2_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	homeobox A1 isoform a	233	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3						AAGTTGGTGCGCACCGCGTTG	0.537													A	27134370	G	A	27134370	3	1	45	1	0	0	0	0	1	0	0	0	7288	1087	38	1	314	1	HOXA1	7	27134370	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	404443	27134370	132004293	492	36848											
ELMO1	9844	broad.mit.edu	37	chr7	37136224	37136224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaataagtatacttacGcaactcgcccactttcaaga	7	10	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:37136224G>A	uc003tfk.1	-	15	1607	c.1300C>T	c.(1300-1302)CCT>TCT	p.P434S	ELMO1_uc011kbc.1_Missense_Mutation_p.P338S|ELMO1_uc010kxg.1_Missense_Mutation_p.P434S	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	434	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						GTATACTTACGCAACTCGCCC	0.498													A	37136224	G	A	37136224	3	1	45	1	0	0	0	0	1	0	0	0	5065	1101	38	1	915	1	ELMO1	7	37136224	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	10001854	37136224	122002439	493	36849											
CDK13	8621	broad.mit.edu	37	chr7	40134238	40134239	+	Frame_Shift_Ins	INS	-	-	T													ttctgccttttctgagtcatINSttcccagttcagtagctgga							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:40134237_40134238A>AT	uc003thh.4	+	13	4479_4480	c.4197_4198A>AT	c.(4195-4200)tcatttfs	p.S1399fs	CDK13_uc003thi.4_Frame_Shift_Ins_p.S1339fs|CDK13_uc003thj.3_Frame_Shift_Ins_p.S450fs|CDK13_uc003thk.3_Frame_Shift_Ins_p.S332fs	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	1399					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TTTCTGAGTCATTTCCCAGTTC	0.426													T	40134239	-	T	40134238	7	5	45	1	0	1	1	0	0	0	0	0	3129	1493	52	0	4252	0	CDK13	7	40134238	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	2998014	40134238	119004425	494	36850											
ADCY1	107	broad.mit.edu	37	chr7	45699707	45699707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgaggtagaaccgggttaCggacatgagaggaacagttt	14	6	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:45699707C>T	uc003tne.3	+	7	1392	c.1374C>T	c.(1372-1374)TAC>TAT	p.Y458Y	ADCY1_uc003tnd.2_Silent_p.Y233Y	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	458	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AACCGGGTTACGGACATGAGA	0.493													T	45699707	C	T	45699707	2	4	45	1	0	0	0	0	0	0	0	1	292	547	19	1		1	ADCY1	7	45699707	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	5565469	45699707	113438956	495	36851											
ADCY1	107	broad.mit.edu	37	chr7	45725766	45725766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcctgctctccgggctcaCcacgtcctacatcctcgttc	7	18	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:45725766C>T	uc003tne.3	+	13	2297	c.2279C>T	c.(2278-2280)ACC>ATC	p.T760I		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	760	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCCGGGCTCACCACGTCCTAC	0.567													T	45725766	C	T	45725766	3	4	45	1	0	0	0	0	1	0	0	0	292	507	18	4	2329	4	ADCY1	7	45725766	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	26059	45725766	113412897	496	36852											
ABCA13	154664	broad.mit.edu	37	chr7	48285466	48285466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattaatcttttagatgttgGcgaagaatgctgtctgcccg	10	7	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:48285466G>A	uc003toq.2	+	13	1523	c.1498G>A	c.(1498-1500)GCG>ACG	p.A500T	ABCA13_uc010kyr.2_Missense_Mutation_p.A3T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	500					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TTAGATGTTGGCGAAGAATGC	0.448													A	48285466	G	A	48285466	3	1	45	1	0	0	0	0	1	0	0	0	31	1203	42	2	1377	2	ABCA13	7	48285466	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2559700	48285466	110853197	497	36853											
ZNF713	349075	broad.mit.edu	37	chr7	56007318	56007318	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagccttttatatgcaaTggatgtgggaaagccttccg	11	7	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:56007318T>C	uc003trc.1	+	4	950	c.912T>C	c.(910-912)AAT>AAC	p.N304N	ZNF713_uc003tra.1_Silent_p.N317N|MRPS17_uc003trb.2_Intron	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	zinc finger protein 713	304	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTATATGCAATGGATGTGGGA	0.393													C	56007318	T	C	56007318	2	2	45	1	0	0	0	0	0	0	0	1	18114	1461	51	3		3	ZNF713	7	56007318	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	7721852	56007318	103131345	498	36854											
ASL	435	broad.mit.edu	37	chr7	65547883	65547883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggagctcattggtgcaaCggcagggaagctgcacacgg	15	11	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:65547883C>T	uc003tuo.2	+	5	419	c.308C>T	c.(307-309)ACG>ATG	p.T103M	ASL_uc011kdu.1_Missense_Mutation_p.T103M|ASL_uc010kzx.1_Missense_Mutation_p.T103M|ASL_uc011kdv.1_Missense_Mutation_p.T103M|ASL_uc003tup.2_Missense_Mutation_p.T103M|ASL_uc003tur.2_Missense_Mutation_p.T103M|ASL_uc003tuq.2_Missense_Mutation_p.T103M	NM_000048	NP_000039	P04424	ARLY_HUMAN	argininosuccinate lyase isoform 1	103					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(2)	2					L-Arginine(DB00125)	ATTGGTGCAACGGCAGGGAAG	0.632													T	65547883	C	T	65547883	3	4	45	1	0	0	0	0	1	0	0	0	1044	536	19	1	322	1	ASL	7	65547883	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	9540565	65547883	93590780	499	36855											
TBL2	26608	broad.mit.edu	37	chr7	72984992	72984992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagtgttgtgaaacagccGcaccgcccggtccccacagg	13	14	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:72984992G>A	uc003tyh.2	-	7	1323	c.1189C>T	c.(1189-1191)CGG>TGG	p.R397W	TBL2_uc011kex.1_Missense_Mutation_p.R361W|TBL2_uc010lbg.2_Missense_Mutation_p.R302W|TBL2_uc003tyi.2_Missense_Mutation_p.R232W|TBL2_uc011key.1_Missense_Mutation_p.R268W|TBL2_uc010lbh.2_Missense_Mutation_p.R302W	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	397	WD 7.										0		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGAAACAGCCGCACCGCCCGG	0.632													A	72984992	G	A	72984992	3	1	45	1	0	0	0	0	1	0	0	0	15639	1086	38	1	158	1	TBL2	7	72984992	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	7437109	72984992	86153671	500	36856											
LIMK1	3984	broad.mit.edu	37	chr7	73513447	73513447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcccacctgccccacaccGtcaccctggtgtccatccca	6	22	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:73513447G>A	uc003uaa.1	+	5	652	c.487G>A	c.(487-489)GTC>ATC	p.V163I	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.V129I|LIMK1_uc003uac.1_5'UTR	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	163					actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			stomach(2)|ovary(1)	3		Lung NSC(55;0.137)				GCCCCACACCGTCACCCTGGT	0.657													A	73513447	G	A	73513447	3	1	45	1	0	0	0	0	1	0	0	0	8801	1145	40	1	505	1	LIMK1	7	73513447	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	528455	73513447	85625216	501	36857											
POMZP3	22932	broad.mit.edu	37	chr7	76255377	76255377	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagagtcactgggctacacAccatcctggagttgcgaggg	13	11	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:76255377A>G	uc003uft.2	-	2	752	c.5T>C	c.(4-6)GTG>GCG	p.V2A	uc003ufs.1_RNA|POMZP3_uc003ufu.2_Missense_Mutation_p.V2A|POMZP3_uc003ufv.2_RNA|POMZP3_uc011kgm.1_RNA	NM_012230	NP_036362	Q6PJE2	POZP3_HUMAN	POMZP3 fusion protein isoform 1	2											0		Myeloproliferative disorder(862;0.204)				TGGGCTACACACCATCCTGGA	0.522													G	76255377	A	G	76255377	3	3	45	1	0	0	0	0	1	0	0	0	12247	159	6	3	585	3	POMZP3	7	76255377	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	2741930	76255377	82883286	502	36858											
CD36	948	broad.mit.edu	37	chr7	80285858	80285858	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttattttctttttcatagcaAgttgtcctcgaagaaggtac	7	7	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:80285858A>C	uc003uhc.2	+	7	807	c.123A>C	c.(121-123)CAA>CAC	p.Q41H	CD36_uc003uhd.3_Missense_Mutation_p.Q41H|CD36_uc011kgv.1_5'UTR|CD36_uc003uhe.3_Missense_Mutation_p.Q41H|CD36_uc003uhf.3_Missense_Mutation_p.Q41H|CD36_uc003uhg.3_Missense_Mutation_p.Q41H|CD36_uc003uhh.3_Missense_Mutation_p.Q41H	NM_001127444	NP_001120916	P16671	CD36_HUMAN	CD36 antigen	41	Extracellular (Potential).				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			ovary(1)	1						TTTCATAGCAAGTTGTCCTCG	0.378													C	80285858	A	C	80285858	3	2	45	1	0	0	0	0	1	0	0	0	3007	69	3	5	129	5	CD36	7	80285858	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	4030481	80285858	78852805	503	36859											
ABCB4	5244	broad.mit.edu	37	chr7	87073079	87073079	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctctctctgaaaaactgtcaAttttaggattctaaataaaa	4	7	4	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:87073079A>T	uc003uiv.1	-	11	1206	c.1130T>A	c.(1129-1131)ATT>AAT	p.I377N	ABCB4_uc003uiw.1_Missense_Mutation_p.I377N|ABCB4_uc003uix.1_Missense_Mutation_p.I377N	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	377	Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AAAACTGTCAATTTTAGGATT	0.343													T	87073079	A	T	87073079	3	4	45	1	0	0	0	0	1	0	0	0	43	101	4	5	2802	5	ABCB4	7	87073079	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	6787221	87073079	72065584	504	36860											
AKAP9	10142	broad.mit.edu	37	chr7	91671392	91671393	+	Frame_Shift_Ins	INS	-	-	AG													ataatgaaaacctggtttcaINSgagagagagagggtgctttt							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:91671391_91671392C>CAG	uc003ulg.3	+	18	5174_5175	c.4949_4950C>CAG	c.(4948-4950)tcafs	p.S1650fs	AKAP9_uc003ulf.3_Frame_Shift_Ins_p.S1650fs|AKAP9_uc003uli.3_Frame_Shift_Ins_p.S1275fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1662					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACCTGGTTTCAGAGAGAGAGA	0.416			T	BRAF	papillary thyroid								AG	91671393	-	AG	91671392	7	5	45	1	0	1	1	0	0	0	0	0	459	175	7	0	5024	0	AKAP9	7	91671392	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	4598313	91671392	67467271	505	36861											
AKAP9	10142	broad.mit.edu	37	chr7	91708403	91708403	+	Frame_Shift_Del	DEL	A	A	-													taattattaggttattgaagAaaaaaatgaactgataaggg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:91708403delA	uc003ulg.2	+	31	7181	c.6956delA	c.(6955-6957)GAAfs	p.E2319fs	AKAP9_uc003ulf.2_Frame_Shift_Del_p.E2311fs|AKAP9_uc003uli.2_Frame_Shift_Del_p.E1942fs|AKAP9_uc003ulj.2_Frame_Shift_Del_p.E89fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2331	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTTATTGAAGAAAAAAATGAA	0.284			T	BRAF	papillary thyroid								-	91708403	A	-	91708403	7	5	45	1	0	1	0	1	0	0	0	0	459	246	9	0	7078	0	AKAP9	7	91708403	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	37011	91708403	67430260	506	36862											
PTCD1	26024	broad.mit.edu	37	chr7	99022445	99022445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgagaagctgtagaccGtccttcggcctgtggcaccc	12	13	1	2	rs142516229		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:99022445G>A	uc003uqh.2	-	6	1841	c.1710C>T	c.(1708-1710)GAC>GAT	p.D570D	PTCD1_uc011kiw.1_Silent_p.D619D	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	570	PPR 8.									ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCTGTAGACCGTCCTTCGGCC	0.617													A	99022445	G	A	99022445	2	1	45	1	0	0	0	0	0	0	0	1	12727	1136	40	1		1	PTCD1	7	99022445	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	7314042	99022445	60116218	507	36863											
PILRB	29990	broad.mit.edu	37	chr7	99955941	99955941	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccatgggtcggcccctgCtgctgcccctgctgctcctg	13	17	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:99955941C>T	uc003uuk.2	+	15	2512	c.16C>T	c.(16-18)CTG>TTG	p.L6L	PILRB_uc003uul.2_Silent_p.L6L|PILRB_uc003uum.1_RNA|PILRB_uc003uun.2_Silent_p.L6L	NM_013440	NP_038468	Q9UKJ0	PILRB_HUMAN	paired immunoglobulin-like type 2 receptor beta	6					activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCGGCCCCTGCTGCTGCCCCT	0.672													T	99955941	C	T	99955941	2	4	45	1	0	0	0	0	0	0	0	1	11926	796	28	2		2	PILRB	7	99955941	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	933496	99955941	59182722	508	36864											
MEPCE	56257	broad.mit.edu	37	chr7	100028470	100028470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcagcagcaggcagccGgagggagtgagagtcacccc	15	13	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:100028470G>A	uc003uuw.2	+	1	942	c.829G>A	c.(829-831)GGA>AGA	p.G277R	ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	bin3, bicoid-interacting 3	277							methyltransferase activity			upper_aerodigestive_tract(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGGCAGCCGGAGGGAGTGA	0.662													A	100028470	G	A	100028470	3	1	45	1	0	0	0	0	1	0	0	0	9477	1117	39	1	831	1	MEPCE	7	100028470	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	72529	100028470	59110193	509	36865											
C7orf51	222950	broad.mit.edu	37	chr7	100085812	100085812	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagggccgagagtccagCcggaaggttcctccgcagaa	14	13	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:100085812C>T	uc003uvd.1	+	4	627	c.468C>T	c.(466-468)AGC>AGT	p.S156S	C7orf51_uc003uve.1_5'UTR	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	156										skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGAGTCCAGCCGGAAGGTTC	0.597													T	100085812	C	T	100085812	2	4	45	1	0	0	0	0	0	0	0	1	2400	738	26	2		2	C7orf51	7	100085812	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	57342	100085812	59052851	510	36866											
MUC17	140453	broad.mit.edu	37	chr7	100678887	100678887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctagtgaaggaaccactcCgttaacaagtatacctgtca	7	11	1	1	rs141608296		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:100678887C>T	uc003uxp.1	+	3	4243	c.4190C>T	c.(4189-4191)CCG>CTG	p.P1397L	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1397	Extracellular (Potential).|59 X approximate tandem repeats.|21.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAACCACTCCGTTAACAAGT	0.507													T	100678887	C	T	100678887	3	4	45	1	0	0	0	0	1	0	0	0	9974	652	23	1	4200	1	MUC17	7	100678887	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	593075	100678887	58459776	511	36867											
TRIM56	81844	broad.mit.edu	37	chr7	100732016	100732016	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcaatttcccgggagcccAgcccagccctggggccgaat	12	15	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:100732016A>C	uc003uxq.2	+	3	1654	c.1423A>C	c.(1423-1425)AGC>CGC	p.S475R	TRIM56_uc003uxr.2_Intron	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	475					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					CCGGGAGCCCAGCCCAGCCCT	0.622													C	100732016	A	C	100732016	3	2	45	1	0	0	0	0	1	0	0	0	16527	188	7	5	1425	5	TRIM56	7	100732016	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	53129	100732016	58406647	512	36868											
VGF	7425	broad.mit.edu	37	chr7	100807605	100807605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtctcctgctggcgcttggCgctacttggactgaaatctc	11	13	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:100807605C>T	uc003uxx.3	-	2	738	c.520G>A	c.(520-522)GCC>ACC	p.A174T		NM_003378	NP_003369	O15240	VGF_HUMAN	VGF nerve growth factor inducible precursor	174					response to cAMP	extracellular space|transport vesicle	growth factor activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)					TGGCGCTTGGCGCTACTTGGA	0.662													T	100807605	C	T	100807605	3	4	45	1	0	0	0	0	1	0	0	0	17154	768	27	1	1331	1	VGF	7	100807605	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	75589	100807605	58331058	513	36869											
ALKBH4	54784	broad.mit.edu	37	chr7	102098052	102098052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgggcgggtaaggggatgGccacctccacctcctggcat	15	13	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:102098052G>A	uc003uzl.2	-	3	703	c.698C>T	c.(697-699)GCC>GTC	p.A233V	ALKBH4_uc003uzm.2_Missense_Mutation_p.A160V	NM_017621	NP_060091	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4	233						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						TAAGGGGATGGCCACCTCCAC	0.706													A	102098052	G	A	102098052	3	1	45	1	0	0	0	0	1	0	0	0	529	1203	42	2	214	2	ALKBH4	7	102098052	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1290447	102098052	57040611	514	36870											
DNAJC2	27000	broad.mit.edu	37	chr7	102982389	102982389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccacaggttcaacttgaCagagtgtagaggctgtgatt	11	8	1	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:102982389C>T	uc003vbo.2	-	2	328	c.77G>A	c.(76-78)TGT>TAT	p.C26Y	DNAJC2_uc003vbn.2_5'UTR|DNAJC2_uc010lix.2_Missense_Mutation_p.C26Y|DNAJC2_uc003vbp.2_Intron|DNAJC2_uc003vbq.1_RNA|DNAJC2_uc003vbr.1_Missense_Mutation_p.C26Y	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	26	Epitope (recognized by CD8(+) cytotoxic T-lymphocytes).				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			kidney(1)	1						TTCAACTTGACAGAGTGTAGA	0.373													T	102982389	C	T	102982389	3	4	45	1	0	0	0	0	1	0	0	0	4639	478	17	4	1852	4	DNAJC2	7	102982389	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	884337	102982389	56156274	515	36871											
PSMC2	5701	broad.mit.edu	37	chr7	103004675	103004675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaggcaagacactctgtgCgcgggcagttgctaatcgga	13	10	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:103004675C>T	uc003vbs.2	+	8	747	c.677C>T	c.(676-678)GCG>GTG	p.A226V	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.A89V	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	226					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0						ACACTCTGTGCGCGGGCAGTT	0.498													T	103004675	C	T	103004675	3	4	45	1	0	0	0	0	1	0	0	0	12686	768	27	1	707	1	PSMC2	7	103004675	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	22286	103004675	56133988	516	36872											
RELN	5649	broad.mit.edu	37	chr7	103293021	103293021	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccaggctgatgcgttccAcatcccagattgatggaaaa	9	10	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:103293021A>G	uc003vca.2	-	14	1900	c.1740T>C	c.(1738-1740)TGT>TGC	p.C580C	RELN_uc010liz.2_Silent_p.C580C	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	580					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GATGCGTTCCACATCCCAGAT	0.403													G	103293021	A	G	103293021	2	3	45	1	0	0	0	0	0	0	0	1	13220	157	6	3		3	RELN	7	103293021	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	288346	103293021	55845642	517	36873											
PUS7	54517	broad.mit.edu	37	chr7	105148756	105148756	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagaattctttccacctttCccagtactgacagtgtcagg	7	12	3	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:105148756C>T	uc003vcx.2	-	2	423	c.204G>A	c.(202-204)GGG>GGA	p.G68G	PUS7_uc010lji.2_Silent_p.G68G|PUS7_uc003vcy.2_Silent_p.G68G|PUS7_uc003vcz.1_Silent_p.G68G	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog	68					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1						TTCCACCTTTCCCAGTACTGA	0.493													T	105148756	C	T	105148756	2	4	45	1	0	0	0	0	0	0	0	1	12833	842	30	4		4	PUS7	7	105148756	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1855735	105148756	53989907	518	36874											
LAMB1	3912	broad.mit.edu	37	chr7	107580727	107580727	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacagcgtggaccctcaacAccctcaacgcagacacactg	7	17	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:107580727A>G	uc003vew.2	-	25	3803	c.3468T>C	c.(3466-3468)GGT>GGC	p.G1156G	LAMB1_uc003vev.2_Silent_p.G1180G	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	1156	Laminin EGF-like 13.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACCCTCAACACCCTCAACGC	0.587													G	107580727	A	G	107580727	2	3	45	1	0	0	0	0	0	0	0	1	8610	146	6	3		3	LAMB1	7	107580727	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	2431971	107580727	51557936	519	36875											
LAMB4	22798	broad.mit.edu	37	chr7	107738955	107738955	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaggcactggccggccacaGaccctaaggcaggatcagag	13	12	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:107738955G>A	uc010ljo.1	-	11	1337	c.1253C>T	c.(1252-1254)TCT>TTT	p.S418F	LAMB4_uc003vey.2_Missense_Mutation_p.S418F	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	418	Laminin EGF-like 3.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						GCCGGCCACAGACCCTAAGGC	0.552													A	107738955	G	A	107738955	3	1	45	1	0	0	0	0	1	0	0	0	8613	942	33	4	4128	4	LAMB4	7	107738955	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	158228	107738955	51399708	520	36876											
TMEM168	64418	broad.mit.edu	37	chr7	112423832	112423832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaatcaagcaaaaatggCgcatccctttggatgccatg	9	10	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:112423832C>T	uc003vgn.2	-	2	1441	c.1049G>A	c.(1048-1050)CGC>CAC	p.R350H	TMEM168_uc010lju.2_Missense_Mutation_p.R350H|TMEM168_uc011kmr.1_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	transmembrane protein 168	350						integral to membrane|transport vesicle				ovary(1)|central_nervous_system(1)	2						GCAAAAATGGCGCATCCCTTT	0.408													T	112423832	C	T	112423832	3	4	45	1	0	0	0	0	1	0	0	0	16080	768	27	1	1060	1	TMEM168	7	112423832	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	4684877	112423832	46714831	521	36877											
C7orf60	154743	broad.mit.edu	37	chr7	112555379	112555379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctacaacaccattcaataCgaccttcgccctcacaagtt	3	16	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:112555379C>T	uc003vgo.1	-	2	411	c.284G>A	c.(283-285)CGT>CAT	p.R95H	C7orf60_uc011kms.1_Missense_Mutation_p.R121H	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	hypothetical protein LOC154743	95										ovary(2)|skin(1)	3						CCATTCAATACGACCTTCGCC	0.308													T	112555379	C	T	112555379	3	4	45	1	0	0	0	0	1	0	0	0	2407	536	19	1	949	1	C7orf60	7	112555379	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	131547	112555379	46583284	522	36878											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558541	113558541	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aacatattctgctaaaatgtCataatgtgtctgccagtcat	6	8	4	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:113558541C>G	uc010ljy.1	-	1	542	c.511G>C	c.(511-513)GAC>CAC	p.D171H		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	171	CBM21.				glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						GCTAAAATGTCATAATGTGTC	0.343													G	113558541	C	G	113558541	3	3	45	1	0	0	0	0	1	0	0	0	12371	826	29	5	2873	5	PPP1R3A	7	113558541	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1003162	113558541	45580122	523	36879											
ANKRD7	56311	broad.mit.edu	37	chr7	117874902	117874902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaaaaactgcttgaatacGaagctgatcttgaagcgaaa	9	6	1	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:117874902G>A	uc003vji.2	+	3	615	c.442G>A	c.(442-444)GAA>AAA	p.E148K		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	148	ANK 3.				male gonad development						0						GCTTGAATACGAAGCTGATCT	0.333													A	117874902	G	A	117874902	3	1	45	1	0	0	0	0	1	0	0	0	686	1059	37	1	452	1	ANKRD7	7	117874902	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	4316361	117874902	41263761	524	36880											
PTPRZ1	5803	broad.mit.edu	37	chr7	121679626	121679626	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaattttactctaagaaAcacaaaaataaaaaaggtga	7	4	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:121679626A>C	uc003vjy.2	+	20	6016	c.5621A>C	c.(5620-5622)AAC>ACC	p.N1874T	PTPRZ1_uc003vjz.2_Missense_Mutation_p.N1007T|PTPRZ1_uc011knt.1_Missense_Mutation_p.N464T	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1874	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						ACTCTAAGAAACACAAAAATA	0.393													C	121679626	A	C	121679626	3	2	45	1	0	0	0	0	1	0	0	0	12814	43	2	5	5699	5	PTPRZ1	7	121679626	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	3804724	121679626	37459037	525	36881											
SMO	6608	broad.mit.edu	37	chr7	128850231	128850231	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaatgtgaccatcgggctGcccaccaagcagcccatccc	9	18	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:128850231G>A	uc003vor.2	+	9	1774	c.1494G>A	c.(1492-1494)CTG>CTA	p.L498L	SMO_uc003vos.2_Silent_p.L173L	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	498	Extracellular (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						CCATCGGGCTGCCCACCAAGC	0.438			Mis		skin basal cell 						OREG0018305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	128850231	G	A	128850231	2	1	45	1	0	0	0	0	0	0	0	1	14800	1306	46	2		2	SMO	7	128850231	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	7170605	128850231	30288432	526	36882											
PLXNA4	91584	broad.mit.edu	37	chr7	131982977	131982977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccctgggtccatccaccCggatctgtggagaagaagag	13	12	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:131982977C>T	uc003vra.3	-	4	1605	c.1376G>A	c.(1375-1377)CGG>CAG	p.R459Q		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	459	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						TCCATCCACCCGGATCTGTGG	0.602													T	131982977	C	T	131982977	3	4	45	1	0	0	0	0	1	0	0	0	12122	652	23	1	4424	1	PLXNA4	7	131982977	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3132746	131982977	27155686	527	36883											
ZC3HAV1L	92092	broad.mit.edu	37	chr7	138713581	138713581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatggataagctgatgggaCcgtttgcaggtctgaagttt	14	6	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:138713581C>T	uc003vum.1	-	3	639	c.627G>A	c.(625-627)CGG>CGA	p.R209R		NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	209											0						GCTGATGGGACCGTTTGCAGG	0.428													T	138713581	C	T	138713581	2	4	45	1	0	0	0	0	0	0	0	1	17573	494	18	4		4	ZC3HAV1L	7	138713581	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	6730604	138713581	20425082	528	36884											
TBXAS1	6916	broad.mit.edu	37	chr7	139611034	139611034	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcccaggtactatcttGgtcgtcggatgtttattgtt	9	9	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:139611034G>T	uc011kqv.1	+	4	414	c.250G>T	c.(250-252)GGT>TGT	p.G84C	TBXAS1_uc003vvh.2_Missense_Mutation_p.G84C|TBXAS1_uc010lne.2_Missense_Mutation_p.G16C|TBXAS1_uc011kqu.1_Missense_Mutation_p.G35C|TBXAS1_uc003vvi.2_Missense_Mutation_p.G84C|TBXAS1_uc003vvj.2_Missense_Mutation_p.G84C|TBXAS1_uc011kqw.1_Missense_Mutation_p.G64C|TBXAS1_uc011kqx.1_Missense_Mutation_p.G84C	NM_001130966	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1, platelet isoform	83	Helical; (Potential).				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			ovary(2)|breast(1)	3	Melanoma(164;0.0142)					GTACTATCTTGGTCGTCGGAT	0.383													T	139611034	G	T	139611034	3	4	45	1	0	0	0	0	1	0	0	0	15661	1348	47	5	264	5	TBXAS1	7	139611034	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	897453	139611034	19527629	529	36885											
TBXAS1	6916	broad.mit.edu	37	chr7	139719863	139719863	+	Frame_Shift_Del	DEL	A	A	-													tccaaatctgccctaggtccAaaaaatggtgtctatatcaa							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:139719862_139719862CA>C	uc011kqv.2	+	13	1941	c.1706_1706CA>C	c.(1705-1707)ccafs	p.P569fs	TBXAS1_uc003vvh.3_Frame_Shift_Del_p.P523fs|TBXAS1_uc010lne.3_Frame_Shift_Del_p.P455fs|TBXAS1_uc003vvi.3_Frame_Shift_Del_p.P523fs|TBXAS1_uc011kqw.2_Frame_Shift_Del_p.P503fs|TBXAS1_uc003vvj.3_3'UTR	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	522					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					GCCCTAGGTCCAAAAAATGGT	0.438													-	139719863	A	-	139719863	7	5	45	1	0	1	0	1	0	0	0	0	15661	117	5	0	1761	0	TBXAS1	7	139719863	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	108829	139719863	19418800	530	36886											
NDUFB2	4708	broad.mit.edu	37	chr7	140402766	140402766	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagcggactcatgtggTtctggattctctggcgcttt	11	10	5	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:140402766T>C	uc003vwa.2	+	2	263	c.199T>C	c.(199-201)TTC>CTC	p.F67L	NDUFB2_uc010lnl.2_RNA	NM_004546	NP_004537	O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	67					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.00956)				NADH(DB00157)	ACTCATGTGGTTCTGGATTCT	0.547													C	140402766	T	C	140402766	3	2	45	1	0	0	0	0	1	0	0	0	10281	1725	60	3	205	3	NDUFB2	7	140402766	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	682903	140402766	18735897	531	36887											
TAS2R3	50831	broad.mit.edu	37	chr7	141464526	141464526	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgggactctgtggtacCtgcctcccttaattgtgtcc	9	12	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:141464526C>T	uc003vwp.1	+	1	630	c.568C>T	c.(568-570)CTG>TTG	p.L190L		NM_016943	NP_058639	Q9NYW6	TA2R3_HUMAN	taste receptor T2R3	190	Helical; Name=5; (Potential).				sensory perception of taste		taste receptor activity			central_nervous_system(1)	1	Melanoma(164;0.0171)					TCTGTGGTACCTGCCTCCCTT	0.502													T	141464526	C	T	141464526	2	4	45	1	0	0	0	0	0	0	0	1	15569	680	24	4		4	TAS2R3	7	141464526	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1061760	141464526	17674137	532	36888											
TAS2R4	50832	broad.mit.edu	37	chr7	141478798	141478798	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aataacacatcatttaatatCagtgagggcatcttgtcttt	6	7	4	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:141478798C>A	uc003vwq.1	+	1	510	c.510C>A	c.(508-510)ATC>ATA	p.I170I		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	taste receptor T2R4	170	Extracellular (Potential).				sensory perception of taste	cilium membrane	taste receptor activity				0	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		CATTTAATATCAGTGAGGGCA	0.418													A	141478798	C	A	141478798	2	1	45	1	0	0	0	0	0	0	0	1	15574	816	29	5		5	TAS2R4	7	141478798	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	14272	141478798	17659865	533	36889											
TRPV5	56302	broad.mit.edu	37	chr7	142605706	142605706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggtagacctcctctccatCcccctcactaaggttcagtc	6	16	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:142605706C>T	uc003wby.1	-	15	2428	c.2164G>A	c.(2164-2166)GAT>AAT	p.D722N		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	722	Cytoplasmic (Potential).|Involved in Ca(2+)-dependent inactivation (By similarity).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					TCCTCTCCATCCCCCTCACTA	0.572													T	142605706	C	T	142605706	3	4	45	1	0	0	0	0	1	0	0	0	16596	855	30	4	29	4	TRPV5	7	142605706	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1126908	142605706	16532957	534	36890											
KEL	3792	broad.mit.edu	37	chr7	142658099	142658099	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggcccttccacaggcaaAgctgaagaagtcggtgcagg	13	10	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:142658099A>C	uc003wcb.2	-	4	526	c.316T>G	c.(316-318)TTT>GTT	p.F106V		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	106	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)					CCACAGGCAAAGCTGAAGAAG	0.527													C	142658099	A	C	142658099	3	2	45	1	0	0	0	0	1	0	0	0	8142	72	3	5	1946	5	KEL	7	142658099	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	52393	142658099	16480564	535	36891											
GBX1	2636	broad.mit.edu	37	chr7	150846112	150846112	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccccctgcagaactgtccAggaaaccgtcatcctcgctg	10	16	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:150846112A>G	uc011kvg.1	-	2	888	c.656T>C	c.(655-657)CTG>CCG	p.L219P		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	gastrulation brain homeo box 1	219						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGAACTGTCCAGGAAACCGTC	0.622													G	150846112	A	G	150846112	3	3	45	1	0	0	0	0	1	0	0	0	6280	188	7	3	438	3	GBX1	7	150846112	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	8188013	150846112	8292551	536	36892											
CHPF2	54480	broad.mit.edu	37	chr7	150932283	150932283	+	Frame_Shift_Del	DEL	G	G	-													actctacttcactgggcagcGgggggcccgggctccagcag							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:150932282_150932282CG>C	uc003wjr.1	+	1	1925	c.412_412CG>C	c.(412-414)cggfs	p.R138fs	CHPF2_uc003wjq.1_Frame_Shift_Del_p.R130fs	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	138						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CACTGGGCAGCGGGGGGCCCG	0.637													-	150932283	G	-	150932283	7	5	45	1	0	1	0	1	0	0	0	0	3369	1116	39	0	419	0	CHPF2	7	150932283	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	86171	150932283	8206380	537	36893											
GALNT11	63917	broad.mit.edu	37	chr7	151800311	151800311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtgtcatagaccgcacGccagcacacctgcttcatga	8	15	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:151800311G>A	uc010lqg.1	+	4	764	c.534G>A	c.(532-534)ACG>ACA	p.T178T	GALNT11_uc011kvm.1_Silent_p.T97T|GALNT11_uc003wku.2_Silent_p.T178T|GALNT11_uc003wkv.1_Silent_p.T178T|GALNT11_uc011kvn.1_RNA	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	178	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TAGACCGCACGCCAGCACACC	0.488													A	151800311	G	A	151800311	2	1	45	1	0	0	0	0	0	0	0	1	6209	1074	38	1		1	GALNT11	7	151800311	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	868028	151800311	7338352	538	36894											
GALNT11	63917	broad.mit.edu	37	chr7	151805218	151805218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggaccggcacaccgtgGtgtgcccagtgattgacatc	14	11	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:151805218G>A	uc010lqg.1	+	6	1038	c.808G>A	c.(808-810)GTG>ATG	p.V270M	GALNT11_uc011kvm.1_Missense_Mutation_p.V189M|GALNT11_uc003wku.2_Missense_Mutation_p.V270M|GALNT11_uc011kvn.1_RNA|GALNT11_uc003wkw.1_Missense_Mutation_p.V18M	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	270	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		GCACACCGTGGTGTGCCCAGT	0.607													A	151805218	G	A	151805218	3	1	45	1	0	0	0	0	1	0	0	0	6209	1261	44	4	826	4	GALNT11	7	151805218	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	4907	151805218	7333445	539	36895											
MLL3	58508	broad.mit.edu	37	chr7	151845212	151845212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccttctcctcaatggaGcacaggtagcggcagcgcct	10	15	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:151845212G>A	uc003wla.2	-	52	14019	c.13800C>T	c.(13798-13800)TGC>TGT	p.C4600C	MLL3_uc003wkz.2_Silent_p.C3718C|MLL3_uc003wkx.2_Silent_p.C758C|MLL3_uc003wky.2_Silent_p.C2164C	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4600	FYR N-terminal.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CCTCAATGGAGCACAGGTAGC	0.527			N		medulloblastoma								A	151845212	G	A	151845212	2	1	45	1	0	0	0	0	0	0	0	1	9622	963	34	2		2	MLL3	7	151845212	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	39994	151845212	7293451	540	36896											
WDR60	55112	broad.mit.edu	37	chr7	158695164	158695164	+	Frame_Shift_Del	DEL	A	A	-													ggaagaacttcctctagctcAaaaaaaggaaatacaagaaa							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr7:158695163_158695163CA>C	uc003woe.4	+	9	1392	c.1234_1234CA>C	c.(1234-1236)caafs	p.Q412fs	WDR60_uc010lqv.3_Non-coding_Transcript|WDR60_uc010lqw.3_5'UTR	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	412										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TCCTCTAGCTCAAAAAAAGGA	0.373													-	158695164	A	-	158695164	7	5	45	1	0	1	0	1	0	0	0	0	17308	130	5	0	1273	0	WDR60	7	158695164	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	6849952	158695164	443499	541	36897											
CLN8	2055	broad.mit.edu	37	chr8	1728566	1728566	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtatctgcctcatttgAcactgttccttgtcggactg	9	12	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:1728566A>C	uc003wpo.3	+	3	999	c.694A>C	c.(694-696)ACA>CCA	p.T232P		NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8	232	TLC.|Helical; (Potential).				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		GCCTCATTTGACACTGTTCCT	0.502													C	1728566	A	C	1728566	3	2	45	1	0	0	0	0	1	0	0	0	3546	275	10	5	700	5	CLN8	8	1728566	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08		1728566	144635456	542	36898											
PPP1R3B	79660	broad.mit.edu	37	chr8	8998807	8998807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaaagtctaagtaatctgCagagggctgggaaaaatcca	10	7	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:8998807C>T	uc003wsn.3	-	2	520	c.355G>A	c.(355-357)GCA>ACA	p.A119T	PPP1R3B_uc003wso.3_Missense_Mutation_p.A118T	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	119					glycogen metabolic process					ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		AAGTAATCTGCAGAGGGCTGG	0.493													T	8998807	C	T	8998807	3	4	45	1	0	0	0	0	1	0	0	0	12372	710	25	2	506	2	PPP1R3B	8	8998807	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	7270241	8998807	137365215	543	36899											
RP1L1	94137	broad.mit.edu	37	chr8	10470612	10470612	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cataggagcgtgtcctcgccGaccaggtggaagcggacttt	14	11	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:10470612G>A	uc003wtc.2	-	4	1225	c.996C>T	c.(994-996)GTC>GTT	p.V332V		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	332					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		TGTCCTCGCCGACCAGGTGGA	0.652													A	10470612	G	A	10470612	2	1	45	1	0	0	0	0	0	0	0	1	13533	1045	37	1		1	RP1L1	8	10470612	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1471805	10470612	135893410	544	36900											
RP1L1	94137	broad.mit.edu	37	chr8	10470689	10470689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccttcttcttcatgtcatCgccagccaccagcgggcccg	9	17	4	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:10470689C>T	uc003wtc.2	-	4	1148	c.919G>A	c.(919-921)GAT>AAT	p.D307N		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	307					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		TTCATGTCATCGCCAGCCACC	0.647													T	10470689	C	T	10470689	3	4	45	1	0	0	0	0	1	0	0	0	13533	884	31	1	6287	1	RP1L1	8	10470689	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	77	10470689	135893333	545	36901											
USP17L2	377630	broad.mit.edu	37	chr8	11995964	11995964	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatgtagttggcaaggggCggtgtgtatgtcaggcactg	17	6	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:11995964C>T	uc003wvc.1	-	1	306	c.306G>A	c.(304-306)CCG>CCA	p.P102P	FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	deubiquitinating enzyme 3	102					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)	3						TGGCAAGGGGCGGTGTGTATG	0.572													T	11995964	C	T	11995964	2	4	45	1	0	0	0	0	0	0	0	1	17045	755	27	1		1	USP17L2	8	11995964	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1525275	11995964	134368058	546	36902											
LONRF1	91694	broad.mit.edu	37	chr8	12594548	12594548	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacactctttttaaacagtcCtctctggcaggcatttctgt	7	11	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:12594548C>A	uc003wwd.1	-	5	1278	c.1215G>T	c.(1213-1215)GAG>GAT	p.E405D	LONRF1_uc011kxv.1_Missense_Mutation_p.E5D|LONRF1_uc010lsp.1_Missense_Mutation_p.E5D	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger	405					proteolysis		ATP-dependent peptidase activity|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(644;0.236)		TTAAACAGTCCTCTCTGGCAG	0.418													A	12594548	C	A	12594548	3	1	45	1	0	0	0	0	1	0	0	0	8894	680	24	5	1138	5	LONRF1	8	12594548	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	598584	12594548	133769474	547	36903											
PCM1	5108	broad.mit.edu	37	chr8	17817868	17817868	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcagcaacagagagagcTaaaacaattgcaggaagaaa	10	7	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:17817868T>C	uc003wyi.3	+	15	2659	c.2237T>C	c.(2236-2238)CTA>CCA	p.L746P	PCM1_uc011kyh.1_Missense_Mutation_p.L746P|PCM1_uc003wyj.3_Missense_Mutation_p.L747P	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	746	Potential.				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)		CAGAGAGAGCTAAAACAATTG	0.333			T	RET|JAK2	papillary thyroid|CML|MPD								C	17817868	T	C	17817868	3	2	45	1	0	0	0	0	1	0	0	0	11584	1522	53	3	2287	3	PCM1	8	17817868	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	5223320	17817868	128546154	548	36904											
NAT2	10	broad.mit.edu	37	chr8	18257800	18257800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagggtatttttacatccCtccagttaacaaatacagca	7	9	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:18257800C>T	uc003wyw.1	+	2	394	c.287C>T	c.(286-288)CCT>CTT	p.P96L		NM_000015	NP_000006	P11245	ARY2_HUMAN	N-acetyltransferase 2	96					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			ovary(1)|skin(1)	2				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TTTTACATCCCTCCAGTTAAC	0.502									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				T	18257800	C	T	18257800	3	4	45	1	0	0	0	0	1	0	0	0	10177	681	24	4	289	4	NAT2	8	18257800	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	439932	18257800	128106222	549	36905											
LZTS1	11178	broad.mit.edu	37	chr8	20107417	20107417	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtactgaatcaccttctccTtctcctccttccacacgagc	5	17	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:20107417T>G	uc003wzr.2	-	3	1718	c.1607A>C	c.(1606-1608)AAG>ACG	p.K536T	LZTS1_uc010ltg.1_Missense_Mutation_p.K477T	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	536					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CACCTTCTCCTTCTCCTCCTT	0.637													G	20107417	T	G	20107417	3	3	45	1	0	0	0	0	1	0	0	0	9138	1609	56	5	187	5	LZTS1	8	20107417	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1849617	20107417	126256605	550	36906											
LZTS1	11178	broad.mit.edu	37	chr8	20110667	20110667	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcctggatgctgcactcgtCcgtggagatgggggagcgga	17	10	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:20110667C>A	uc003wzr.2	-	2	886	c.775G>T	c.(775-777)GAC>TAC	p.D259Y	LZTS1_uc010ltg.1_Missense_Mutation_p.D259Y	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	259	Potential.				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CTGCACTCGTCCGTGGAGATG	0.632													A	20110667	C	A	20110667	3	1	45	1	0	0	0	0	1	0	0	0	9138	855	30	5	1023	5	LZTS1	8	20110667	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3250	20110667	126253355	551	36907											
GFRA2	2675	broad.mit.edu	37	chr8	21608373	21608373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggagcgcagcttcttgCagttgtcattcaggttgcag	14	8	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:21608373C>T	uc003wzu.1	-	4	1196	c.521G>A	c.(520-522)TGC>TAC	p.C174Y	GFRA2_uc003wzv.1_Missense_Mutation_p.C69Y|GFRA2_uc003wzw.1_Missense_Mutation_p.C41Y|DOK2_uc003wzx.1_Intron	NM_001495	NP_001486	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2 isoform a	174						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity				0				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		CAGCTTCTTGCAGTTGTCATT	0.617													T	21608373	C	T	21608373	3	4	45	1	0	0	0	0	1	0	0	0	6348	710	25	2	897	2	GFRA2	8	21608373	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1497706	21608373	124755649	552	36908											
HR	55806	broad.mit.edu	37	chr8	21978604	21978604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggccggagtgacgggggCgaaggccatgtgtattcgct	18	9	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:21978604C>T	uc003xas.2	-	10	3006	c.2341G>A	c.(2341-2343)GCC>ACC	p.A781T	HR_uc003xat.2_Missense_Mutation_p.A781T	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	781							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTGACGGGGGCGAAGGCCATG	0.672													T	21978604	C	T	21978604	3	4	45	1	0	0	0	0	1	0	0	0	7347	768	27	1	1268	1	HR	8	21978604	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	370231	21978604	124385418	553	36909											
HR	55806	broad.mit.edu	37	chr8	21985114	21985114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaaggcctgggggacaagCgggccaggaggtccagggca	18	10	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:21985114C>T	uc003xas.2	-	3	1506	c.841G>A	c.(841-843)GCT>ACT	p.A281T	HR_uc003xat.2_Missense_Mutation_p.A281T	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	281							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGGGACAAGCGGGCCAGGAG	0.642													T	21985114	C	T	21985114	3	4	45	1	0	0	0	0	1	0	0	0	7347	768	27	1	2796	1	HR	8	21985114	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	6510	21985114	124378908	554	36910											
BMP1	649	broad.mit.edu	37	chr8	22066962	22066962	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgtcccctacagagtgCgggggccaggtacgggcaga	15	12	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:22066962C>T	uc003xbg.2	+	19	2824	c.2580C>T	c.(2578-2580)TGC>TGT	p.C860C	BMP1_uc011kzc.1_Silent_p.C609C|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	860	CUB 5.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTACAGAGTGCGGGGGCCAGG	0.637													T	22066962	C	T	22066962	2	4	45	1	0	0	0	0	0	0	0	1	1456	776	27	1		1	BMP1	8	22066962	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	81848	22066962	124297060	555	36911											
KIAA1967	57805	broad.mit.edu	37	chr8	22473348	22473348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctagaacctgctgtcatcGcacgccctggctgtgtaaac	9	15	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:22473348G>A	uc003xch.2	+	13	1668	c.1531G>A	c.(1531-1533)GCA>ACA	p.A511T	KIAA1967_uc003xci.2_Missense_Mutation_p.A511T|KIAA1967_uc003xcj.1_Missense_Mutation_p.A180T	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	511					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGCTGTCATCGCACGCCCTGG	0.572													A	22473348	G	A	22473348	3	1	45	1	0	0	0	0	1	0	0	0	8265	1087	38	1	1577	1	KIAA1967	8	22473348	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	406386	22473348	123890674	556	36912											
LOXL2	4017	broad.mit.edu	37	chr8	23174526	23174526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaggccacgtcctccccGtcgtggcggcagtgcgccag	16	16	0	0	rs142665521	byFrequency	TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:23174526G>A	uc003xdh.1	-	9	1911	c.1572C>T	c.(1570-1572)GAC>GAT	p.D524D	LOXL2_uc010lty.1_Silent_p.D63D	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	524	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CGTCCTCCCCGTCGTGGCGGC	0.652													A	23174526	G	A	23174526	2	1	45	1	0	0	0	0	0	0	0	1	8900	1136	40	1		1	LOXL2	8	23174526	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	701178	23174526	123189496	557	36913											
NEFM	4741	broad.mit.edu	37	chr8	24771399	24771399	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgcgtcagcggctccccGtccagtggcttccgctcgca	12	18	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:24771399G>A	uc003xed.3	+	1	126	c.93G>A	c.(91-93)CCG>CCA	p.P31P	NEFM_uc011lac.1_Silent_p.P31P|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	31	Head.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCGGCTCCCCGTCCAGTGGCT	0.682													A	24771399	G	A	24771399	2	1	45	1	0	0	0	0	0	0	0	1	10316	1132	40	1		1	NEFM	8	24771399	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1596873	24771399	121592623	558	36914											
TRIM35	23087	broad.mit.edu	37	chr8	27145310	27145310	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggcgacgtggctgggtcCgaggtcacgcagtggtcccc	18	12	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:27145310C>T	uc003xfl.1	-	6	1321	c.1239G>A	c.(1237-1239)TCG>TCA	p.S413S	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	tripartite motif-containing 35 isoform 2	413	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding				0		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		TGGCTGGGTCCGAGGTCACGC	0.682													T	27145310	C	T	27145310	2	4	45	1	0	0	0	0	0	0	0	1	16506	639	23	1		1	TRIM35	8	27145310	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2373911	27145310	119218712	559	36915											
ZNF395	55893	broad.mit.edu	37	chr8	28209226	28209227	+	In_Frame_Ins	INS	-	-	GCA													agggactggggtgcctgcggINScagcagcagcagcagcagca							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:28209225_28209226G>GGCA	uc003xgq.3	-	6	1107_1108	c.1019_1020C>TGCC	c.(1018-1020)gcc>gTGCC	p.A340V	ZNF395_uc003xgt.3_In_Frame_Ins_p.A340V|ZNF395_uc003xgr.3_In_Frame_Ins_p.A340V|ZNF395_uc003xgs.3_In_Frame_Ins_p.A340V	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	340					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGGTGCCTgcggcagcagcagc	0.609													GCA	28209227	-	GCA	28209226	7	5	45	1	0	1	1	0	0	0	0	0	17878	1203	42	0	538	0	ZNF395	8	28209226	In_Frame_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	1063916	28209226	118154796	560	36916											
KIF13B	23303	broad.mit.edu	37	chr8	29005051	29005051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatacataagcctctggcGctccagtgcagatcgttttt	8	12	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:29005051G>A	uc003xhh.3	-	17	1941	c.1882C>T	c.(1882-1884)CGC>TGC	p.R628C	KIF13B_uc003xhj.2_Missense_Mutation_p.R525C	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	628	Potential.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AGCCTCTGGCGCTCCAGTGCA	0.453													A	29005051	G	A	29005051	3	1	45	1	0	0	0	0	1	0	0	0	8275	1087	38	1	3694	1	KIF13B	8	29005051	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	795825	29005051	117358971	561	36917											
WRN	7486	broad.mit.edu	37	chr8	30958372	30958372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttttttacaggtatcacGctcattgctgtggatgaggc	10	8	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:30958372G>A	uc003xio.3	+	18	2777	c.1989G>A	c.(1987-1989)ACG>ACA	p.T663T	WRN_uc010lvk.2_Silent_p.T130T	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	663	Helicase ATP-binding.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CAGGTATCACGCTCATTGCTG	0.393			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				A	30958372	G	A	30958372	2	1	45	1	0	0	0	0	0	0	0	1	17399	1074	38	1		1	WRN	8	30958372	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1953321	30958372	115405650	562	36918											
UNC5D	137970	broad.mit.edu	37	chr8	35579836	35579836	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacagacggagccagagtgActatggcgtggacgtcattg	14	8	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:35579836A>G	uc003xjr.1	+	9	1554	c.1226A>G	c.(1225-1227)GAC>GGC	p.D409G	UNC5D_uc003xjs.1_Missense_Mutation_p.D404G|UNC5D_uc003xju.1_5'Flank|UNC5D_uc003xjt.1_Missense_Mutation_p.D167G	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	409	Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGCCAGAGTGACTATGGCGTG	0.552													G	35579836	A	G	35579836	3	3	45	1	0	0	0	0	1	0	0	0	16992	275	10	3	1260	3	UNC5D	8	35579836	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	4621464	35579836	110784186	563	36919											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37730005	37730005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccatgggaagagggggcGccacttcttcagctgcatcc	12	14	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:37730005G>A	uc003xkm.1	-	4	2359	c.2315C>T	c.(2314-2316)GCG>GTG	p.A772V	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.A101V|RAB11FIP1_uc003xko.1_Missense_Mutation_p.A101V|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	772					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AAGAGGGGGCGCCACTTCTTC	0.567													A	37730005	G	A	37730005	3	1	45	1	0	0	0	0	1	0	0	0	12893	1087	38	1	1548	1	RAB11FIP1	8	37730005	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2150169	37730005	108634017	564	36920											
IKBKB	3551	broad.mit.edu	37	chr8	42175289	42175289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaagtgtcagctgtatcCgtaagaatttgttatgtttt	9	5	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:42175289C>T	uc003xow.1	+	12	1417	c.1240C>T	c.(1240-1242)CTT>TTT	p.L414F	IKBKB_uc010lxh.1_Missense_Mutation_p.L309F|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.L191F|IKBKB_uc003xox.1_Missense_Mutation_p.L135F|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.L412F|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.L355F	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	414					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CAGCTGTATCCGTAAGAATTT	0.428													T	42175289	C	T	42175289	3	4	45	1	0	0	0	0	1	0	0	0	7611	666	23	1	1282	1	IKBKB	8	42175289	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	4445284	42175289	104188733	565	36921											
HOOK3	84376	broad.mit.edu	37	chr8	42837826	42837826	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctagctgcagagattgttAcacctgaaatcaggtaagga	11	7	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:42837826A>G	uc003xpr.2	+	14	1620	c.1378A>G	c.(1378-1380)ACA>GCA	p.T460A	HOOK3_uc010lxq.1_Missense_Mutation_p.T460A	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	460					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AGAGATTGTTACACCTGAAAT	0.378			T	RET	papillary thyroid								G	42837826	A	G	42837826	3	3	45	1	0	0	0	0	1	0	0	0	7284	391	14	3	1432	3	HOOK3	8	42837826	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	662537	42837826	103526196	566	36922											
PRKDC	5591	broad.mit.edu	37	chr8	48733302	48733302	+	Frame_Shift_Del	DEL	T	T	-													gcataaaactctgaatgccaTtttgaatgtaatatttggct							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:48733302delT	uc003xqi.2	-	67	9371	c.9314delA	c.(9313-9315)AATfs	p.N3105fs	PRKDC_uc003xqj.2_Frame_Shift_Del_p.N3105fs|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3105	KIP-binding.|FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTGAATGCCATTTTGAATGTA	0.299								NHEJ					-	48733302	T	-	48733302	7	5	45	1	0	1	0	1	0	0	0	0	12521	1493	52	0	3156	0	PRKDC	8	48733302	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	5895476	48733302	97630720	567	36923											
PRKDC	5591	broad.mit.edu	37	chr8	48825009	48825009	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcgaagcagcacaggaaaCgtccgcttatagagctggta	12	9	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:48825009C>T	uc003xqi.2	-	25	2952	c.2895G>A	c.(2893-2895)ACG>ACA	p.T965T	PRKDC_uc003xqj.2_Silent_p.T965T|PRKDC_uc011ldh.1_Silent_p.T965T	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	965					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GCACAGGAAACGTCCGCTTAT	0.443								NHEJ					T	48825009	C	T	48825009	2	4	45	1	0	0	0	0	0	0	0	1	12521	523	19	1		1	PRKDC	8	48825009	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	91707	48825009	97539013	568	36924											
PXDNL	137902	broad.mit.edu	37	chr8	52721799	52721799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatcaagtgcatgcagcGgacggtgctcttaaagcaaa	11	10	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:52721799G>A	uc003xqu.3	-	1	207	c.106C>T	c.(106-108)CGC>TGC	p.R36C		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	36	LRRNT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGCATGCAGCGGACGGTGCTC	0.572													A	52721799	G	A	52721799	3	1	45	1	0	0	0	0	1	0	0	0	12848	1116	39	1	4377	1	PXDNL	8	52721799	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	3896790	52721799	93642223	569	36925											
RP1	6101	broad.mit.edu	37	chr8	55540178	55540178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgccagtgaggcatgtGcccctgaagtctgtgttttg	13	10	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:55540178G>A	uc003xsd.1	+	4	3884	c.3736G>A	c.(3736-3738)GCC>ACC	p.A1246T	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1246					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGAGGCATGTGCCCCTGAAGT	0.458													A	55540178	G	A	55540178	3	1	45	1	0	0	0	0	1	0	0	0	13532	1319	46	2	3746	2	RP1	8	55540178	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2818379	55540178	90823844	570	36926											
RP1	6101	broad.mit.edu	37	chr8	55540519	55540519	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgataacttggattcaacTgaagagttagaaagaggtga	11	4	1	6			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:55540519T>G	uc003xsd.1	+	4	4225	c.4077T>G	c.(4075-4077)ACT>ACG	p.T1359T	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1359					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGGATTCAACTGAAGAGTTAG	0.338													G	55540519	T	G	55540519	2	3	45	1	0	0	0	0	0	0	0	1	13532	1567	55	5		5	RP1	8	55540519	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	341	55540519	90823503	571	36927											
CYP7A1	1581	broad.mit.edu	37	chr8	59409231	59409231	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcgatgcccagaggaccacGaggtgtgtcttggccttctc	13	12	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:59409231G>A	uc003xtm.3	-	3	903	c.840C>T	c.(838-840)CTC>CTT	p.L280L		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	280					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AGAGGACCACGAGGTGTGTCT	0.443									Neonatal_Giant_Cell_Hepatitis				A	59409231	G	A	59409231	2	1	45	1	0	0	0	0	0	0	0	1	4196	1045	37	1		1	CYP7A1	8	59409231	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	3868712	59409231	86954791	572	36928											
TOX	9760	broad.mit.edu	37	chr8	59728047	59728047	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggggaggaggaggggacacAgccatgtttgctatagagac	17	6	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:59728047A>C	uc003xtw.1	-	7	1463	c.1242T>G	c.(1240-1242)GCT>GCG	p.A414A		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	414						nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GAGGGGACACAGCCATGTTTG	0.567													C	59728047	A	C	59728047	2	2	45	1	0	0	0	0	0	0	0	1	16374	175	7	5		5	TOX	8	59728047	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	318816	59728047	86635975	573	36929											
CHD7	55636	broad.mit.edu	37	chr8	61765914	61765914	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcaggaatgtgaggcagaGgccagctctgtgaaaaatga	14	6	1	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:61765914G>T	uc003xue.2	+	31	7107	c.6630G>T	c.(6628-6630)GAG>GAT	p.E2210D		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2210	Glu-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTGAGGCAGAGGCCAGCTCTG	0.502													T	61765914	G	T	61765914	3	4	45	1	0	0	0	0	1	0	0	0	3330	991	35	5	6748	5	CHD7	8	61765914	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2037867	61765914	84598108	574	36930											
PDE7A	5150	broad.mit.edu	37	chr8	66639191	66639191	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagtggtgattttccagtActgaggtattctacaacaaa	8	8	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:66639191A>G	uc003xvq.2	-	9	851	c.839T>C	c.(838-840)GTA>GCA	p.V280A	PDE7A_uc003xvr.2_Missense_Mutation_p.V280A|PDE7A_uc003xvp.2_Missense_Mutation_p.V254A	NM_002604	NP_002595	Q13946	PDE7A_HUMAN	phosphodiesterase 7A isoform b	280	Catalytic (By similarity).					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding				0			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	ATTTTCCAGTACTGAGGTATT	0.383													G	66639191	A	G	66639191	3	3	45	1	0	0	0	0	1	0	0	0	11651	391	14	3	661	3	PDE7A	8	66639191	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	4873277	66639191	79724831	575	36931											
TRPA1	8989	broad.mit.edu	37	chr8	72958792	72958792	+	Frame_Shift_Del	DEL	T	T	-													tataacatcctgtgtaggtgTttttttggtgaattctaatg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:72958791_72958791GT>G	uc003xza.3	-	16	2193	c.2018_2018AC>C	c.(2017-2019)acafs	p.T673fs	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	673						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTGTGTAGGTGTTTTTTTGGT	0.269													-	72958792	T	-	72958792	7	5	45	1	0	1	0	1	0	0	0	0	16574	1725	60	0	1386	0	TRPA1	8	72958792	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	6319601	72958792	73405230	576	36932											
UBE2W	55284	broad.mit.edu	37	chr8	74722818	74722818	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataaacagatatgaccattgCtataaacatgaggatgaaca	7	6	0	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:74722818C>A	uc003xzv.2	-	4	310	c.257G>T	c.(256-258)AGC>ATC	p.S86I	UBE2W_uc003xzt.2_Missense_Mutation_p.S86I|UBE2W_uc003xzu.2_Missense_Mutation_p.S97I|UBE2W_uc003xzw.2_RNA	NM_018299	NP_060769	Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	86					protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity				0	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			ATGACCATTGCTATAAACATG	0.368													A	74722818	C	A	74722818	3	1	45	1	0	0	0	0	1	0	0	0	16874	797	28	5	210	5	UBE2W	8	74722818	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1764026	74722818	71641204	577	36933											
LRRCC1	85444	broad.mit.edu	37	chr8	86041489	86041489	+	Frame_Shift_Del	DEL	A	A	-													acaaacttcaaaatgaaattAaaaaactgactgttgaacta							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:86041488_86041488TA>T	uc003ycw.3	+	9	1708	c.1500_1500TA>T	c.(1498-1500)attfs	p.I500fs	LRRCC1_uc010lzz.2_Intron|LRRCC1_uc022awx.1_Frame_Shift_Del_p.I407fs|LRRCC1_uc010maa.2_Frame_Shift_Del_p.I201fs|LRRCC1_uc003ycy.3_Frame_Shift_Del_p.I480fs	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	500					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AAAATGAAATTAAAAAACTGA	0.323													-	86041489	A	-	86041489	7	5	45	1	0	1	0	1	0	0	0	0	9026	363	13	0	1539	0	LRRCC1	8	86041489	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	11318671	86041489	60322533	578	36934											
MMP16	4325	broad.mit.edu	37	chr8	89198805	89198805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgtctggtcaggtacacCgcatcggggcttcttcatcc	10	13	5	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:89198805C>T	uc003yeb.3	-	3	586	c.304G>A	c.(304-306)GGT>AGT	p.G102S	MMP16_uc003yec.2_Missense_Mutation_p.G102S	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	102	Cysteine switch (By similarity).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						TCAGGTACACCGCATCGGGGC	0.378													T	89198805	C	T	89198805	3	4	45	1	0	0	0	0	1	0	0	0	9655	652	23	1	1707	1	MMP16	8	89198805	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3157316	89198805	57165217	579	36935											
CALB1	793	broad.mit.edu	37	chr8	91078155	91078155	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtatactcggctaattttgTgtcatcaacagtcttgtttg	8	7	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:91078155T>C	uc003yel.1	-	6	603	c.421A>G	c.(421-423)ACA>GCA	p.T141A	CALB1_uc011lge.1_Missense_Mutation_p.T84A	NM_004929	NP_004920	P05937	CALB1_HUMAN	calbindin 1	141						nucleus	calcium ion binding|vitamin D binding			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.00953)			GCTAATTTTGTGTCATCAACA	0.343													C	91078155	T	C	91078155	3	2	45	1	0	0	0	0	1	0	0	0	2573	1696	59	3	388	3	CALB1	8	91078155	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1879350	91078155	55285867	580	36936											
KIAA1429	25962	broad.mit.edu	37	chr8	95531636	95531636	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcttgcagcacaccagggTgagcacttgttactggaatt	12	9	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:95531636T>G	uc003ygo.1	-	9	2103	c.2090A>C	c.(2089-2091)CAC>CCC	p.H697P	KIAA1429_uc003ygp.2_Missense_Mutation_p.H697P|KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	697					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CACACCAGGGTGAGCACTTGT	0.393													G	95531636	T	G	95531636	3	3	45	1	0	0	0	0	1	0	0	0	8231	1696	59	5	3466	5	KIAA1429	8	95531636	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	4453481	95531636	50832386	581	36937											
GDF6	392255	broad.mit.edu	37	chr8	97157037	97157037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggcctcgtactccaggggCgcgataatccagtcgtccca	11	14	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:97157037C>T	uc003yhp.2	-	2	1222	c.1122G>A	c.(1120-1122)GCG>GCA	p.A374A		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	374					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					ACTCCAGGGGCGCGATAATCC	0.622													T	97157037	C	T	97157037	2	4	45	1	0	0	0	0	0	0	0	1	6317	755	27	1		1	GDF6	8	97157037	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1625401	97157037	49206985	582	36938											
TSPYL5	85453	broad.mit.edu	37	chr8	98289908	98289908	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggccaccccaccccgcgccAgcctgcacctgtgccgcctg	10	22	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:98289908A>G	uc003yhy.2	-	1	269	c.165T>C	c.(163-165)GCT>GCC	p.A55A		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	55					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)					ACCCCGCGCCAGCCTGCACCT	0.751													G	98289908	A	G	98289908	2	3	45	1	0	0	0	0	0	0	0	1	16659	175	7	3		3	TSPYL5	8	98289908	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	1132871	98289908	48074114	583	36939											
POP1	10940	broad.mit.edu	37	chr8	99168525	99168525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatagagcaccccagggagGcagaggaggtaatggatgca	15	9	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:99168525G>A	uc003yij.3	+	15	2405	c.2305G>A	c.(2305-2307)GCA>ACA	p.A769T	POP1_uc011lgv.1_Missense_Mutation_p.A769T|POP1_uc003yik.2_Missense_Mutation_p.A769T	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	769					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CCCCAGGGAGGCAGAGGAGGT	0.537													A	99168525	G	A	99168525	3	1	45	1	0	0	0	0	1	0	0	0	12251	1203	42	2	2359	2	POP1	8	99168525	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	878617	99168525	47195497	584	36940											
KCNS2	3788	broad.mit.edu	37	chr8	99441339	99441340	+	Frame_Shift_Ins	INS	-	-	G													tatgaccacagtggggtacgINSgggatgtggtcccagggacc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:99441338_99441339C>CG	uc003yin.3	+	1	1481_1482	c.1131_1132C>CG	c.(1129-1134)tacgggfs	p.Y377fs	KCNS2_uc022azb.1_Frame_Shift_Ins_p.Y377fs	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	377						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.Y377Y(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CAGTGGGGTACGGGGATGTGGT	0.609													G	99441340	-	G	99441339	7	5	45	1	0	1	1	0	0	0	0	0	8089	1116	39	0	1134	0	KCNS2	8	99441339	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	272814	99441339	46922683	585	36941											
VPS13B	157680	broad.mit.edu	37	chr8	100523683	100523683	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctttgatttatgtcaacAcaagtgtaatcagaattttt	5	6	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:100523683A>G	uc003yiv.2	+	29	4762	c.4651A>G	c.(4651-4653)ACA>GCA	p.T1551A	VPS13B_uc003yiw.2_Missense_Mutation_p.T1526A|VPS13B_uc003yix.1_Missense_Mutation_p.T1021A	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1551					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTATGTCAACACAAGTGTAAT	0.343													G	100523683	A	G	100523683	3	3	45	1	0	0	0	0	1	0	0	0	17187	159	6	3	4955	3	VPS13B	8	100523683	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	1082344	100523683	45840339	586	36942											
RGS22	26166	broad.mit.edu	37	chr8	101076163	101076163	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttgtagagatacagacAcctcttcttcttctccttct	5	12	6	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:101076163A>C	uc003yjb.1	-	8	1028	c.833T>G	c.(832-834)GTG>GGG	p.V278G	RGS22_uc003yja.1_Missense_Mutation_p.V97G|RGS22_uc003yjc.1_Missense_Mutation_p.V266G|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	278					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGATACAGACACCtcttcttc	0.333													C	101076163	A	C	101076163	3	2	45	1	0	0	0	0	1	0	0	0	13305	159	6	5	3041	5	RGS22	8	101076163	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	552480	101076163	45287859	587	36943											
PABPC1	26986	broad.mit.edu	37	chr8	101733798	101733798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccatggggtagctggggGcactggggttcatctcggca	18	9	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:101733798G>A	uc003yjs.1	-	1	518	c.14C>T	c.(13-15)GCC>GTC	p.A5V	PABPC1_uc011lhc.1_Missense_Mutation_p.A5V|PABPC1_uc011lhd.1_Intron|PABPC1_uc003yjt.1_Missense_Mutation_p.A5V|PABPC1_uc003yju.2_RNA	NM_002568	NP_002559	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	5					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity				0	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GTAGCTGGGGGCACTGGGGTT	0.716													A	101733798	G	A	101733798	3	1	45	1	0	0	0	0	1	0	0	0	11363	1203	42	2	1952	2	PABPC1	8	101733798	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	657635	101733798	44630224	588	36944											
NCALD	83988	broad.mit.edu	37	chr8	102731832	102731832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcctgcatgacctccgggCgcagcttgctgttctgtttc	11	13	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:102731832C>T	uc003yke.2	-	2	395	c.26G>A	c.(25-27)CGC>CAC	p.R9H	NCALD_uc003ykf.2_Missense_Mutation_p.R9H|NCALD_uc003ykg.2_Missense_Mutation_p.R9H|NCALD_uc003ykh.2_Missense_Mutation_p.R9H|NCALD_uc003yki.2_Missense_Mutation_p.R9H|NCALD_uc003ykj.2_Missense_Mutation_p.R9H|NCALD_uc003ykk.2_Missense_Mutation_p.R9H|NCALD_uc003ykl.2_Missense_Mutation_p.R9H	NM_032041	NP_114430	P61601	NCALD_HUMAN	neurocalcin delta	9					synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding				0	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			GACCTCCGGGCGCAGCTTGCT	0.478													T	102731832	C	T	102731832	3	4	45	1	0	0	0	0	1	0	0	0	10201	768	27	1	567	1	NCALD	8	102731832	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	998034	102731832	43632190	589	36945											
NUDCD1	84955	broad.mit.edu	37	chr8	110308619	110308619	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaaccctcacctcccaTttttcagaagcgctatttcc	3	15	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:110308619T>A	uc003ynb.3	-	3	564	c.453A>T	c.(451-453)AAA>AAT	p.K151N	NUDCD1_uc003yna.2_Missense_Mutation_p.K122N|NUDCD1_uc010mcl.2_Missense_Mutation_p.K64N|NUDCD1_uc010mcm.1_Missense_Mutation_p.K64N	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	NudC domain containing 1 isoform 1	151										ovary(1)|breast(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TCACCTCCCATTTTTCAGAAG	0.383													A	110308619	T	A	110308619	3	1	45	1	0	0	0	0	1	0	0	0	10722	1490	52	5	1330	5	NUDCD1	8	110308619	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	7576787	110308619	36055403	590	36946											
CSMD3	114788	broad.mit.edu	37	chr8	113657441	113657441	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactaggccctctaacatcTcctccacataatgctgaaat	4	15	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:113657441T>G	uc003ynu.2	-	20	3366	c.3207A>C	c.(3205-3207)GGA>GGC	p.G1069G	CSMD3_uc003yns.2_Silent_p.G341G|CSMD3_uc003ynt.2_Silent_p.G1029G|CSMD3_uc011lhx.1_Silent_p.G965G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1069	Extracellular (Potential).|CUB 6.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CTCTAACATCTCCTCCACATA	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113657441	T	G	113657441	2	3	45	1	0	0	0	0	0	0	0	1	3946	1538	54	5		5	CSMD3	8	113657441	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	3348822	113657441	32706581	591	36947											
CSMD3	114788	broad.mit.edu	37	chr8	113966979	113966979	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctctagatttaaaatctaTggcctttttcactagttaag	5	8	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:113966979T>C	uc003ynu.2	-	8	1513	c.1354A>G	c.(1354-1356)ATA>GTA	p.I452V	CSMD3_uc003ynt.2_Missense_Mutation_p.I412V|CSMD3_uc011lhx.1_Missense_Mutation_p.I348V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	452	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TTAAAATCTATGGCCTTTTTC	0.284										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113966979	T	C	113966979	3	2	45	1	0	0	0	0	1	0	0	0	3946	1464	51	3	10025	3	CSMD3	8	113966979	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	309538	113966979	32397043	592	36948											
COLEC10	10584	broad.mit.edu	37	chr8	120114599	120114599	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttcaggtgacaaaggggAaaaaggtttgcttggaatac	12	4	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:120114599A>G	uc003yoo.2	+	4	402	c.305A>G	c.(304-306)GAA>GGA	p.E102G		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 precursor	102	Collagen-like.					collagen|cytoplasm	mannose binding	p.E102K(1)		ovary(2)|skin(1)	3	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GACAAAGGGGAAAAAGGTTTG	0.249													G	120114599	A	G	120114599	3	3	45	1	0	0	0	0	1	0	0	0	3710	246	9	3	319	3	COLEC10	8	120114599	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	6147620	120114599	26249423	593	36949											
TAF2	6873	broad.mit.edu	37	chr8	120805694	120805694	+	Splice_Site	DEL	A	A	-													cactattttgtctagctcctAaaaaatatataaaaatagga							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:120805693_120805693TA>T	uc003you.3	-	10	1462	c.1192_splice	c.e10-1	p.E398_splice		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	398					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTCTAGCTCCTAAAAAATATA	0.284													-	120805694	A	-	120805694	8	5	45	1	0	1	0	1	0	0	1	0	15521	377	13	0		0	TAF2	8	120805694	Splice_Site	DEL	A	TCGA-BR-6852-01A-11D-1882-08	691095	120805694	25558328	594	36950											
ZHX2	22882	broad.mit.edu	37	chr8	123964734	123964734	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccccagaagaggtggaggaGgcccggaagaagatgttcaa	15	8	1	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:123964734G>T	uc003ypk.1	+	3	1551	c.984G>T	c.(982-984)GAG>GAT	p.E328D		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	328	Required for interaction with NFYA.|Required for homodimerization.|Required for repressor activity.|Required for nuclear localization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AGGTGGAGGAGGCCCGGAAGA	0.597													T	123964734	G	T	123964734	3	4	45	1	0	0	0	0	1	0	0	0	17673	991	35	5	986	5	ZHX2	8	123964734	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	3159040	123964734	22399288	595	36951											
FBXO32	114907	broad.mit.edu	37	chr8	124544175	124544175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttctggaatccagaatgGcagttgagaagtccagtctg	11	8	3	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:124544175G>A	uc003yqr.2	-	4	527	c.335C>T	c.(334-336)GCC>GTC	p.A112V	FBXO32_uc003yqq.2_5'UTR|FBXO32_uc010mdk.2_Missense_Mutation_p.A112V	NM_058229	NP_478136	Q969P5	FBX32_HUMAN	F-box only protein 32 isoform 1	112										skin(3)|breast(2)|lung(1)	6	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ATCCAGAATGGCAGTTGAGAA	0.478													A	124544175	G	A	124544175	3	1	45	1	0	0	0	0	1	0	0	0	5742	1203	42	2	756	2	FBXO32	8	124544175	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	579441	124544175	21819847	596	36952											
FAM91A1	157769	broad.mit.edu	37	chr8	124797903	124797903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtattgccgattgggctttgCccataagaagggacaagtaa	12	7	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:124797903C>T	uc003yqv.2	+	11	945	c.884C>T	c.(883-885)GCC>GTC	p.A295V	FAM91A1_uc011lik.1_Missense_Mutation_p.A295V|FAM91A1_uc011lil.1_Missense_Mutation_p.A53V	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	295										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TTGGGCTTTGCCCATAAGAAG	0.308													T	124797903	C	T	124797903	3	4	45	1	0	0	0	0	1	0	0	0	5651	739	26	2	926	2	FAM91A1	8	124797903	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	253728	124797903	21566119	597	36953											
NSMCE2	286053	broad.mit.edu	37	chr8	126114681	126114681	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccaagcctgtatcaactctGgtatggacacagcttctagt	8	11	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:126114681G>T	uc003yrw.2	+	3	337	c.109G>T	c.(109-111)GGT>TGT	p.G37C	NSMCE2_uc003yrv.2_Missense_Mutation_p.G37C	NM_173685	NP_775956	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog	37					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)	1	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TATCAACTCTGGTATGGACAC	0.418													T	126114681	G	T	126114681	3	4	45	1	0	0	0	0	1	0	0	0	10676	1348	47	5	111	5	NSMCE2	8	126114681	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1316778	126114681	20249341	598	36954											
EFR3A	23167	broad.mit.edu	37	chr8	132952816	132952816	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaacatattccctgaagaTccaaaagtaatttgatctac	5	9	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:132952816T>C	uc003yte.2	+	2	282	c.81T>C	c.(79-81)GAT>GAC	p.D27D		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A	27						plasma membrane	binding			ovary(3)|breast(1)|central_nervous_system(1)	5	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TCCCTGAAGATCCAAAAGTAA	0.423													C	132952816	T	C	132952816	2	2	45	1	0	0	0	0	0	0	0	1	4958	1432	50	3		3	EFR3A	8	132952816	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	6838135	132952816	13411206	599	36955											
PHF20L1	51105	broad.mit.edu	37	chr8	133790097	133790097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtaaaaagcccccaaatcGccctggaatcacttttgaga	8	11	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:133790097G>A	uc003ytt.2	+	2	348	c.23G>A	c.(22-24)CGC>CAC	p.R8H	PHF20L1_uc003ytr.2_Missense_Mutation_p.R8H|PHF20L1_uc010mdv.2_Missense_Mutation_p.R8H|PHF20L1_uc003yts.2_Missense_Mutation_p.R8H|PHF20L1_uc011lja.1_Missense_Mutation_p.R8H|PHF20L1_uc003ytu.1_RNA|PHF20L1_uc003ytq.2_Missense_Mutation_p.R8H	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	8							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CCCCCAAATCGCCCTGGAATC	0.363													A	133790097	G	A	133790097	3	1	45	1	0	0	0	0	1	0	0	0	11832	1087	38	1	25	1	PHF20L1	8	133790097	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	837281	133790097	12573925	600	36956											
KHDRBS3	10656	broad.mit.edu	37	chr8	136569807	136569807	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaccttgcgtacaagaggTgtaccagccccagcaataac	8	15	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:136569807T>C	uc003yuv.2	+	5	982	c.588T>C	c.(586-588)GGT>GGC	p.G196G	KHDRBS3_uc003yuw.2_Silent_p.G196G	NM_006558	NP_006549	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal	196					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(2)	2	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GTACAAGAGGTGTACCAGCCC	0.428													C	136569807	T	C	136569807	2	2	45	1	0	0	0	0	0	0	0	1	8148	1683	59	3		3	KHDRBS3	8	136569807	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	2779710	136569807	9794215	601	36957											
DENND3	22898	broad.mit.edu	37	chr8	142199100	142199100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttagaactgcatggtgatgGccgaccagaaccaggtgtgg	15	8	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:142199100G>A	uc003yvy.2	+	19	3138	c.2860G>A	c.(2860-2862)GCC>ACC	p.A954T	DENND3_uc010mep.2_Missense_Mutation_p.A915T|DENND3_uc003ywa.1_Missense_Mutation_p.A4T|DENND3_uc003ywb.2_Missense_Mutation_p.A4T	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	954										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CATGGTGATGGCCGACCAGAA	0.403													A	142199100	G	A	142199100	3	1	45	1	0	0	0	0	1	0	0	0	4432	1203	42	2	2930	2	DENND3	8	142199100	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	5629293	142199100	4164922	602	36958											
GPR20	2843	broad.mit.edu	37	chr8	142367165	142367165	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccatgcagctgttgaggcTgctgagggtcacggccacgt	15	11	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:142367165T>C	uc003ywf.2	-	2	948	c.859A>G	c.(859-861)AGC>GGC	p.S287G		NM_005293	NP_005284	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	287	Helical; Name=7; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			upper_aerodigestive_tract(1)	1	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CTGTTGAGGCTGCTGAGGGTC	0.667													C	142367165	T	C	142367165	3	2	45	1	0	0	0	0	1	0	0	0	6680	1580	55	3	221	3	GPR20	8	142367165	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	168065	142367165	3996857	603	36959											
LY6D	8581	broad.mit.edu	37	chr8	143867043	143867043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagcgagagctggccgggCagaccacagaatgcttgcag	15	10	0	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:143867043C>T	uc003yxf.1	-	2	189	c.113G>A	c.(112-114)TGC>TAC	p.C38Y		NM_003695	NP_003686	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D precursor	38	UPAR/Ly6.				cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding				0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCTGGCCGGGCAGACCACAGA	0.647													T	143867043	C	T	143867043	3	4	45	1	0	0	0	0	1	0	0	0	9090	710	25	2	281	2	LY6D	8	143867043	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1499878	143867043	2496979	604	36960											
GPIHBP1	338328	broad.mit.edu	37	chr8	144296900	144296900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccccagtgctgctgcggtGctacacctgcaagtccctgc	11	16	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:144296900G>A	uc003yxu.1	+	3	269	c.194G>A	c.(193-195)TGC>TAC	p.C65Y		NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high	65	UPAR/Ly6.				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity				0	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGCTGCGGTGCTACACCTGC	0.672													A	144296900	G	A	144296900	3	1	45	1	0	0	0	0	1	0	0	0	6612	1319	46	2	204	2	GPIHBP1	8	144296900	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	429857	144296900	2067122	605	36961											
ZNF696	79943	broad.mit.edu	37	chr8	144378828	144378828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgcggccactgcgggcGcgcgttccgggcgctgtcgg	18	15	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:144378828G>A	uc003yxy.3	+	3	1392	c.983G>A	c.(982-984)CGC>CAC	p.R328H		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	328	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CACTGCGGGCGCGCGTTCCGG	0.736													A	144378828	G	A	144378828	3	1	45	1	0	0	0	0	1	0	0	0	18096	1087	38	1	989	1	ZNF696	8	144378828	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	81928	144378828	1985194	606	36962											
EEF1D	1936	broad.mit.edu	37	chr8	144662275	144662275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgtagcttccggataccGtagcccacgggcaccagctt	10	14	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:144662275G>A	uc011lki.1	-	7	983	c.714C>T	c.(712-714)TAC>TAT	p.Y238Y	NAPRT1_uc003yym.3_5'Flank|NAPRT1_uc003yyn.3_5'Flank|NAPRT1_uc011lkh.1_5'Flank|NAPRT1_uc003yyo.3_5'Flank|EEF1D_uc003yyp.1_Silent_p.Y580Y|EEF1D_uc003yyq.1_Silent_p.Y654Y|EEF1D_uc011lkj.1_Silent_p.Y603Y|EEF1D_uc003yyr.2_Silent_p.Y604Y|EEF1D_uc003yyt.2_Silent_p.Y604Y|EEF1D_uc011lkk.1_Silent_p.Y238Y|EEF1D_uc003yys.2_Silent_p.Y238Y|EEF1D_uc003yyv.2_Silent_p.Y214Y|EEF1D_uc003yyu.2_Silent_p.Y238Y|EEF1D_uc011lkl.1_Silent_p.Y219Y	NM_001130057	NP_001123529	P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta	238					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			ovary(1)|kidney(1)|skin(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TCCGGATACCGTAGCCCACGG	0.607													A	144662275	G	A	144662275	2	1	45	1	0	0	0	0	0	0	0	1	4926	1140	40	1		1	EEF1D	8	144662275	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	283447	144662275	1701747	607	36963											
FAM83H	286077	broad.mit.edu	37	chr8	144808253	144808253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacacgcgcttctccttgcgCatgctctccatgcggcgcag	10	16	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:144808253C>T	uc003yzk.2	-	5	3447	c.3378G>A	c.(3376-3378)ATG>ATA	p.M1126I	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	1126					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCTCCTTGCGCATGCTCTCCA	0.697													T	144808253	C	T	144808253	3	4	45	1	0	0	0	0	1	0	0	0	5640	710	25	2	165	2	FAM83H	8	144808253	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	145978	144808253	1555769	608	36964											
SCRIB	23513	broad.mit.edu	37	chr8	144885649	144885649	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgcaccgcctcgccgtgCgtcaggcccagcaggctctg	13	17	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:144885649C>T	uc003yzp.1	-	24	3514	c.3507G>A	c.(3505-3507)ACG>ACA	p.T1169T	SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Silent_p.T1169T	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1169	PDZ 4.|Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCTCGCCGTGCGTCAGGCCCA	0.701													T	144885649	C	T	144885649	2	4	45	1	0	0	0	0	0	0	0	1	13937	755	27	1		1	SCRIB	8	144885649	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	77396	144885649	1478373	609	36965											
SCRIB	23513	broad.mit.edu	37	chr8	144890967	144890967	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggccattgtgccagccccCgggagccacagggccctccc	14	18	0	0	rs147171813		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:144890967C>A	uc003yzp.1	-	15	1934	c.1927G>T	c.(1927-1929)GGG>TGG	p.G643W	SCRIB_uc003yzo.1_Missense_Mutation_p.G643W	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	643	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGCCAGCCCCCGGGAGCCACA	0.493													A	144890967	C	A	144890967	3	1	45	1	0	0	0	0	1	0	0	0	13937	652	23	5	3132	5	SCRIB	8	144890967	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	5318	144890967	1473055	610	36966											
SCRT1	83482	broad.mit.edu	37	chr8	145559733	145559733	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctttatcgtgcagtggCgcgccgaggtcgctgcgggc	15	13	1	0	rs142851592	byFrequency	TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:145559733C>T	uc003zbw.1	-	1	211	c.99G>A	c.(97-99)GCG>GCA	p.A33A		NM_031309	NP_112599	Q9BWW7	SCRT1_HUMAN	scratch	33						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CGTGCAGTGGCGCGCCGAGGT	0.672													T	145559733	C	T	145559733	2	4	45	1	0	0	0	0	0	0	0	1	13941	755	27	1		1	SCRT1	8	145559733	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	668766	145559733	804289	611	36967											
SLC39A4	55630	broad.mit.edu	37	chr8	145638044	145638044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccgtactttcaacatcgCcgggagctgaggagcaagtg	13	11	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:145638044C>T	uc003zcq.2	-	12	1922	c.1822G>A	c.(1822-1824)GCG>ACG	p.A608T	SLC39A4_uc003zcm.1_3'UTR|SLC39A4_uc003zcn.2_Missense_Mutation_p.A110T|SLC39A4_uc003zco.2_Missense_Mutation_p.A332T|SLC39A4_uc003zcp.2_Missense_Mutation_p.A583T	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	608	Cytoplasmic (Potential).					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TTCAACATCGCCGGGAGCTGA	0.687													T	145638044	C	T	145638044	3	4	45	1	0	0	0	0	1	0	0	0	14620	739	26	2	125	2	SLC39A4	8	145638044	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	78311	145638044	725978	612	36968											
SLC39A4	55630	broad.mit.edu	37	chr8	145640473	145640473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccctgcccacccccaggCgctgcatcaaggctgacagc	9	20	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr8:145640473C>T	uc003zcq.2	-	4	789	c.689G>A	c.(688-690)CGC>CAC	p.R230H	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.2_5'Flank|SLC39A4_uc003zco.2_5'UTR|SLC39A4_uc003zcp.2_Missense_Mutation_p.R205H	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	230	Extracellular (Potential).					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CACCCCCAGGCGCTGCATCAA	0.682													T	145640473	C	T	145640473	3	4	45	1	0	0	0	0	1	0	0	0	14620	768	27	1	1290	1	SLC39A4	8	145640473	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2429	145640473	723549	613	36969											
DOCK8	81704	broad.mit.edu	37	chr9	429720	429720	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtttggagacttactctttGaagaggaggtggaacagtgt	14	4	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:429720G>A	uc003zgf.2	+	36	4604	c.4492G>A	c.(4492-4494)GAA>AAA	p.E1498K	DOCK8_uc010mgu.2_Missense_Mutation_p.E800K|DOCK8_uc010mgv.2_Missense_Mutation_p.E1398K|DOCK8_uc003zgk.2_Missense_Mutation_p.E956K	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1498	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CTTACTCTTTGAAGAGGAGGT	0.488													A	429720	G	A	429720	3	1	45	1	0	0	0	0	1	0	0	0	4693	1291	45	4	4634	4	DOCK8	9	429720	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08		429720	140783711	614	36970											
DMRT3	58524	broad.mit.edu	37	chr9	990618	990618	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacgttgaggttttctgcCgactctagcaacgttgtccc	10	12	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:990618C>T	uc003zgw.1	+	2	1070	c.1032C>T	c.(1030-1032)GCC>GCT	p.A344A		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	344					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GGTTTTCTGCCGACTCTAGCA	0.577													T	990618	C	T	990618	2	4	45	1	0	0	0	0	0	0	0	1	4587	639	23	1		1	DMRT3	9	990618	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	560898	990618	140222813	615	36971											
KIAA0020	9933	broad.mit.edu	37	chr9	2811383	2811383	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtccttgccaccaggaTgcagtcctgttgctgccaag	10	15	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:2811383T>C	uc003zhp.1	-	15	1709	c.1613A>G	c.(1612-1614)CAT>CGT	p.H538R	KIAA0020_uc010mhc.1_Missense_Mutation_p.H537R|KIAA0020_uc003zhq.1_Missense_Mutation_p.H537R	NM_014878	NP_055693	Q15397	K0020_HUMAN	KIAA0020 protein	538						endoplasmic reticulum|nucleolus	RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(50;0.0319)		GCCACCAGGATGCAGTCCTGT	0.527													C	2811383	T	C	2811383	3	2	45	1	0	0	0	0	1	0	0	0	8152	1464	51	3	349	3	KIAA0020	9	2811383	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1820765	2811383	138402048	616	36972											
FREM1	158326	broad.mit.edu	37	chr9	14842654	14842654	+	Frame_Shift_Del	DEL	C	C	-													acggtgaagagaaaccctttCccccctgagggagagagcag							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:14842653_14842653TC>T	uc003zlm.3	-	9	2215	c.1399_1399GA>A	c.(1399-1401)aaafs	p.K467fs	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	467					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGAAACCCTTTCCCCCCTGAG	0.527													-	14842654	C	-	14842654	7	5	45	1	0	1	0	1	0	0	0	0	6044	842	30	0	5307	0	FREM1	9	14842654	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	12031271	14842654	126370777	617	36973											
FREM1	158326	broad.mit.edu	37	chr9	14859279	14859279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctggcagccgagttctcGcagtgtccaggctgacggta	16	11	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:14859279G>A	uc003zlm.2	-	4	1123	c.533C>T	c.(532-534)GCG>GTG	p.A178V	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	178					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		CCGAGTTCTCGCAGTGTCCAG	0.527													A	14859279	G	A	14859279	3	1	45	1	0	0	0	0	1	0	0	0	6044	1087	38	1	6192	1	FREM1	9	14859279	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	16625	14859279	126354152	618	36974											
TTC39B	158219	broad.mit.edu	37	chr9	15214143	15214143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaagtaaattaccaggggCgaagcaattctaaggcgtct	10	8	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:15214143C>T	uc003zlr.1	-	4	399	c.278G>A	c.(277-279)CGC>CAC	p.R93H	TTC39B_uc003zlq.1_Missense_Mutation_p.R62H|TTC39B_uc011lmp.1_5'UTR|TTC39B_uc010mie.1_Missense_Mutation_p.R93H|TTC39B_uc011lmq.1_Missense_Mutation_p.R93H|TTC39B_uc011lmr.1_Intron|TTC39B_uc010mif.1_Missense_Mutation_p.R93H|TTC39B_uc003zls.1_5'UTR|TTC39B_uc010mig.1_Missense_Mutation_p.R62H|TTC39B_uc011lms.1_RNA	NM_152574	NP_689787	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	93							binding			ovary(1)	1						TTACCAGGGGCGAAGCAATTC	0.368													T	15214143	C	T	15214143	3	4	45	1	0	0	0	0	1	0	0	0	16705	768	27	1	1661	1	TTC39B	9	15214143	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	354864	15214143	125999288	619	36975											
CNTLN	54875	broad.mit.edu	37	chr9	17484353	17484353	+	Frame_Shift_Del	DEL	A	A	-													ggcgacaaataagagagcttAaaaaaatgaagaaaaacagg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:17484352_17484352TA>T	uc003zmz.2	+	23	3938	c.3912_3912TA>T	c.(3910-3912)cttfs	p.L1304fs	CNTLN_uc003zmy.3_Frame_Shift_Del_p.L1305fs|CNTLN_uc010mio.3_Frame_Shift_Del_p.L984fs	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	1305						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TAAGAGAGCTTAAAAAAATGA	0.398													-	17484353	A	-	17484353	7	5	45	1	0	1	0	1	0	0	0	0	3639	363	13	0	4040	0	CNTLN	9	17484353	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	2270210	17484353	123729078	620	36976											
TEK	7010	broad.mit.edu	37	chr9	27204916	27204916	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcctgcacagcaccagcGgacctcggaggggggaagat	14	12	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:27204916G>A	uc003zqi.3	+	14	2659	c.2217G>A	c.(2215-2217)GCG>GCA	p.A739A	TEK_uc011lno.1_Silent_p.A696A|TEK_uc011lnp.1_Silent_p.A592A|TEK_uc003zqj.1_Silent_p.A673A	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	739	Extracellular (Potential).				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CAGCACCAGCGGACCTCGGAG	0.502													A	27204916	G	A	27204916	2	1	45	1	0	0	0	0	0	0	0	1	15748	1103	39	1		1	TEK	9	27204916	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	9720563	27204916	114008515	621	36977											
IFNK	56832	broad.mit.edu	37	chr9	27524595	27524595	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agggacatcaagaaggccttCtatgaaatgtccctacaggc	10	10	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:27524595C>A	uc003zqp.2	+	1	284	c.261C>A	c.(259-261)TTC>TTA	p.F87L	MOBKL2B_uc003zqn.2_Intron	NM_020124	NP_064509	Q9P0W0	IFNK_HUMAN	interferon kappa precursor	87					cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding				0		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		AGAAGGCCTTCTATGAAATGT	0.423													A	27524595	C	A	27524595	3	1	45	1	0	0	0	0	1	0	0	0	7551	912	32	5	263	5	IFNK	9	27524595	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	319679	27524595	113688836	622	36978											
TOPORS	10210	broad.mit.edu	37	chr9	32550787	32550787	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctcggaggatgccggCgcaggcctggctggggcgct	17	14	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:32550787C>T	uc003zrb.2	-	2	350	c.183G>A	c.(181-183)GCG>GCA	p.A61A	TOPORS_uc003zrc.2_Intron|uc003zrd.2_5'Flank	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	61	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AGGATGCCGGCGCAGGCCTGG	0.721													T	32550787	C	T	32550787	2	4	45	1	0	0	0	0	0	0	0	1	16367	755	27	1		1	TOPORS	9	32550787	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	5026192	32550787	108662644	623	36979											
UNC13B	10497	broad.mit.edu	37	chr9	35396854	35396854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtggtttgagcagttcGtgctacaatggctggatgag	16	6	0	2	rs140663072		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:35396854G>A	uc003zwq.2	+	27	3497	c.3205G>A	c.(3205-3207)GTG>ATG	p.V1069M	UNC13B_uc003zwr.2_Missense_Mutation_p.V1069M	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	1069	MHD1.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGAGCAGTTCGTGCTACAATG	0.552													A	35396854	G	A	35396854	3	1	45	1	0	0	0	0	1	0	0	0	16982	1145	40	1	3311	1	UNC13B	9	35396854	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2846067	35396854	105816577	624	36980											
OR13J1	392309	broad.mit.edu	37	chr9	35869700	35869700	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggagaaggctttgcagcaCctggcggccgagggcaccct	16	12	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:35869700C>A	uc011lph.1	-	1	699	c.699G>T	c.(697-699)AGG>AGT	p.R233S		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			CTTTGCAGCACCTGGCGGCCG	0.582													A	35869700	C	A	35869700	3	1	45	1	0	0	0	0	1	0	0	0	10944	506	18	5	242	5	OR13J1	9	35869700	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	472846	35869700	105343731	625	36981											
FRMPD1	22844	broad.mit.edu	37	chr9	37740128	37740128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcctctgaggtggactgcGtactcgaacctctctctgac	10	13	3	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:37740128G>A	uc004aag.1	+	15	1647	c.1603G>A	c.(1603-1605)GTA>ATA	p.V535I	FRMPD1_uc004aah.1_Missense_Mutation_p.V535I|FRMPD1_uc011lqm.1_Missense_Mutation_p.V357I|FRMPD1_uc011lqn.1_Missense_Mutation_p.V404I	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	535						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		GGTGGACTGCGTACTCGAACC	0.557													A	37740128	G	A	37740128	3	1	45	1	0	0	0	0	1	0	0	0	6057	1145	40	1	1657	1	FRMPD1	9	37740128	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1870428	37740128	103473303	626	36982											
APBA1	320	broad.mit.edu	37	chr9	72046264	72046264	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagatgtaaacaggctgctcCtgggccgtcagcagcctgta	12	12	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:72046264C>A	uc004ahh.2	-	13	2769	c.2493G>T	c.(2491-2493)CAG>CAT	p.Q831H		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	831					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						CAGGCTGCTCCTGGGCCGTCA	0.582													A	72046264	C	A	72046264	3	1	45	1	0	0	0	0	1	0	0	0	756	680	24	5	24	5	APBA1	9	72046264	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	34306136	72046264	69167167	627	36983											
TMEM2	23670	broad.mit.edu	37	chr9	74360375	74360375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaggtaattgtcgctttgGatttatagcggcatttttct	9	6	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:74360375G>A	uc011lsa.1	-	4	1133	c.593C>T	c.(592-594)TCC>TTC	p.S198F	TMEM2_uc010mos.2_Missense_Mutation_p.S198F|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	198	G8.					integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGTCGCTTTGGATTTATAGCG	0.428													A	74360375	G	A	74360375	3	1	45	1	0	0	0	0	1	0	0	0	16118	1174	41	4	3642	4	TMEM2	9	74360375	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2314111	74360375	66853056	628	36984											
RORB	6096	broad.mit.edu	37	chr9	77275630	77275630	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcagacccacacctatgaAgaaattaaagcatatcaaag	7	9	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:77275630A>C	uc004aji.2	+	5	817	c.768A>C	c.(766-768)GAA>GAC	p.E256D	RORB_uc004ajh.2_Missense_Mutation_p.E245D	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	256	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						ACACCTATGAAGAAATTAAAG	0.383													C	77275630	A	C	77275630	3	2	45	1	0	0	0	0	1	0	0	0	13529	69	3	5	753	5	RORB	9	77275630	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	2915255	77275630	63937801	629	36985											
TRPM6	140803	broad.mit.edu	37	chr9	77415342	77415342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacagcgtcatggccatgCgctcattctgcttgaatgcc	9	13	4	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:77415342C>T	uc004ajl.1	-	17	2304	c.2066G>A	c.(2065-2067)CGC>CAC	p.R689H	TRPM6_uc004ajk.1_Missense_Mutation_p.R684H|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.R67H	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	689	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						CATGGCCATGCGCTCATTCTG	0.512													T	77415342	C	T	77415342	3	4	45	1	0	0	0	0	1	0	0	0	16587	768	27	1	4094	1	TRPM6	9	77415342	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	139712	77415342	63798089	630	36986											
PRUNE2	158471	broad.mit.edu	37	chr9	79469112	79469112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatggaccttctccaagcGtttgcttcgattctgaaaca	7	12	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:79469112G>A	uc010mpk.2	-	2	173	c.49C>T	c.(49-51)CGC>TGC	p.R17C	PRUNE2_uc004akn.2_Missense_Mutation_p.R17C	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	17					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						TTCTCCAAGCGTTTGCTTCGA	0.338													A	79469112	G	A	79469112	3	1	45	1	0	0	0	0	1	0	0	0	12641	1145	40	1	9289	1	PRUNE2	9	79469112	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2053770	79469112	61744319	631	36987											
FLJ46321	389763	broad.mit.edu	37	chr9	84608351	84608351	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgatcgtcctcaccctgTctcctcacctgtcgtccaag	6	18	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:84608351T>G	uc004amn.2	+	4	3013	c.2966T>G	c.(2965-2967)GTC>GGC	p.V989G		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	989						integral to membrane					0						CCTCACCCTGTCTCCTCACCT	0.507													G	84608351	T	G	84608351	3	3	45	1	0	0	0	0	1	0	0	0	5932	1667	58	5	2980	5	FLJ46321	9	84608351	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	5139239	84608351	56605080	632	36988											
NFIL3	4783	broad.mit.edu	37	chr9	94172784	94172784	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattatttttccgcctttttTcccaatacatagcatctttc	2	12	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:94172784T>C	uc004arh.2	-	2	628	c.233A>G	c.(232-234)GAA>GGA	p.E78G		NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	78	Basic motif.				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						CCGCCTTTTTTCCCAATACAT	0.423													C	94172784	T	C	94172784	3	2	45	1	0	0	0	0	1	0	0	0	10373	1783	62	3	1159	3	NFIL3	9	94172784	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	9564433	94172784	47040647	633	36989											
FGD3	89846	broad.mit.edu	37	chr9	95738900	95738900	+	Frame_Shift_Del	DEL	C	C	-													cagccaggtcccgaaggtcaCcccccaggaggaggcggaca							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:95738899_95738899AC>A	uc004asz.2	+	2	889	c.361_361AC>A	c.(361-363)accfs	p.T121fs	FGD3_uc004asw.2_Frame_Shift_Del_p.T121fs|FGD3_uc004asx.2_Frame_Shift_Del_p.T121fs	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	121					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.Q123fs*10(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCCGAAGGTCACCCCCCAGGA	0.657													-	95738900	C	-	95738900	7	5	45	1	0	1	0	1	0	0	0	0	5834	507	18	0	364	0	FGD3	9	95738900	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	1566116	95738900	45474531	634	36990											
ZNF169	169841	broad.mit.edu	37	chr9	97062645	97062645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtgtcctgagtgtgggCgtcggtttagccagaaggcc	15	10	0	2	rs10993152		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:97062645C>T	uc004aum.1	+	5	910	c.805C>T	c.(805-807)CGT>TGT	p.R269C		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	269	C2H2-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				TGAGTGTGGGCGTCGGTTTAG	0.572													T	97062645	C	T	97062645	3	4	45	1	0	0	0	0	1	0	0	0	17739	768	27	1	819	1	ZNF169	9	97062645	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1323745	97062645	44150786	635	36991											
FBP2	8789	broad.mit.edu	37	chr9	97349699	97349699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagggaattggatagcacatCcagtttcttcacctcatctc	7	12	4	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:97349699C>T	uc004auv.2	-	2	290	c.223G>A	c.(223-225)GAT>AAT	p.D75N		NM_003837	NP_003828	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	75					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding				0		Acute lymphoblastic leukemia(62;0.136)				GATAGCACATCCAGTTTCTTC	0.488													T	97349699	C	T	97349699	3	4	45	1	0	0	0	0	1	0	0	0	5706	855	30	4	820	4	FBP2	9	97349699	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	287054	97349699	43863732	636	36992											
C9orf102	375748	broad.mit.edu	37	chr9	98643499	98643499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccaaagagaaggaacccGgtttctttatggacactaca	8	10	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:98643499G>A	uc004avt.3	+	2	816	c.428G>A	c.(427-429)CGG>CAG	p.R143Q	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_5'UTR|C9orf102_uc010mry.1_5'UTR|C9orf102_uc010mrz.2_5'UTR	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	143					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				GAAGGAACCCGGTTTCTTTAT	0.378													A	98643499	G	A	98643499	3	1	45	1	0	0	0	0	1	0	0	0	2445	1116	39	1	434	1	C9orf102	9	98643499	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1293800	98643499	42569932	637	36993											
SLC44A1	23446	broad.mit.edu	37	chr9	108136891	108136891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtccagaatgcatacacaGccacagctatcaacagcacc	6	14	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:108136891G>A	uc004bcn.2	+	13	1728	c.1507G>A	c.(1507-1509)GCC>ACC	p.A503T	SLC44A1_uc010mtk.1_Missense_Mutation_p.A503T|SLC44A1_uc004bco.1_Missense_Mutation_p.A295T	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	CDW92 antigen	503	Mitochondrial intermembrane (Potential).					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(3)|ovary(1)	4					Choline(DB00122)	TGCATACACAGCCACAGCTAT	0.413													A	108136891	G	A	108136891	3	1	45	1	0	0	0	0	1	0	0	0	14635	971	34	2	1557	2	SLC44A1	9	108136891	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	9493392	108136891	33076540	638	36994											
ZNF462	58499	broad.mit.edu	37	chr9	109689690	109689690	+	Frame_Shift_Del	DEL	C	C	-													ggtcgaagggccccaaggctCcccccggccacccgccccca							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:109689689_109689689TC>T	uc004bcz.3	+	2	3785	c.3496_3496TC>T	c.(3496-3498)tccfs	p.S1166fs	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Frame_Shift_Del_p.S1014fs|ZNF462_uc004bda.3_Frame_Shift_Del_p.S1014fs	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1166					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCCCAAGGCTCCCCCCGGCC	0.547													-	109689690	C	-	109689690	7	5	45	1	0	1	0	1	0	0	0	0	17923	855	30	0	3503	0	ZNF462	9	109689690	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	1552799	109689690	31523741	639	36995											
IKBKAP	8518	broad.mit.edu	37	chr9	111674625	111674625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccagtgccaatcataggCgaggtaatgccagccctgac	11	13	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:111674625C>T	uc004bdm.3	-	11	1628	c.1108G>A	c.(1108-1110)GCC>ACC	p.A370T	IKBKAP_uc004bdl.2_Missense_Mutation_p.A21T|IKBKAP_uc011lwc.1_Missense_Mutation_p.A256T|IKBKAP_uc010mtq.2_Missense_Mutation_p.A21T	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	370					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						CAATCATAGGCGAGGTAATGC	0.527													T	111674625	C	T	111674625	3	4	45	1	0	0	0	0	1	0	0	0	7610	768	27	1	2998	1	IKBKAP	9	111674625	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1984935	111674625	29538806	640	36996											
MUSK	4593	broad.mit.edu	37	chr9	113445033	113445033	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgtgtgcagtggaatcCtacccccagcctgagatttc	9	12	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:113445033C>A	uc004bey.2	+	2	257	c.159C>A	c.(157-159)TCC>TCA	p.S53S	MUSK_uc004bex.2_Silent_p.S53S	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	53	Ig-like 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						CAGTGGAATCCTACCCCCAGC	0.343													A	113445033	C	A	113445033	2	1	45	1	0	0	0	0	0	0	0	1	9989	668	24	5		5	MUSK	9	113445033	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1770408	113445033	27768398	641	36997											
C9orf84	158401	broad.mit.edu	37	chr9	114484788	114484788	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttccaattagcagtagggaGggtacacaaggatacaaggt	12	6	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:114484788G>T	uc004bfr.2	-	13	1975	c.1840C>A	c.(1840-1842)CTC>ATC	p.L614I	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.L575I|C9orf84_uc010mug.2_Missense_Mutation_p.L560I	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	614										ovary(2)	2						GCAGTAGGGAGGGTACACAAG	0.398													T	114484788	G	T	114484788	3	4	45	1	0	0	0	0	1	0	0	0	2500	1000	35	5	2550	5	C9orf84	9	114484788	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1039755	114484788	26728643	642	36998											
COL27A1	85301	broad.mit.edu	37	chr9	117044798	117044798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggagaccctggaccccCtggcactccaggccctaaag	10	18	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:117044798C>T	uc011lxl.1	+	39	3833	c.3833C>T	c.(3832-3834)CCT>CTT	p.P1278L	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	1278	Pro-rich.|Collagen-like 11.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						CCTGGACCCCCTGGCACTCCA	0.627													T	117044798	C	T	117044798	3	4	45	1	0	0	0	0	1	0	0	0	3685	681	24	4	3987	4	COL27A1	9	117044798	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2560010	117044798	24168633	643	36999											
TNC	3371	broad.mit.edu	37	chr9	117853180	117853180	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggttctcttctggcagggTggcgttcaccccactctgtc	11	14	4	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:117853180T>C	uc004bjj.3	-	2	480	c.118A>G	c.(118-120)ACC>GCC	p.T40A	TNC_uc010mvf.2_Missense_Mutation_p.T40A	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	40					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						TCTGGCAGGGTGGCGTTCACC	0.562													C	117853180	T	C	117853180	3	2	45	1	0	0	0	0	1	0	0	0	16267	1696	59	3	6595	3	TNC	9	117853180	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	808382	117853180	23360251	644	37000											
ASTN2	23245	broad.mit.edu	37	chr9	120176829	120176829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtcctgcaccgcgatgcGccccggcagctcgttacgca	12	17	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:120176829G>A	uc004bjs.1	-	1	489	c.388C>T	c.(388-390)CGC>TGC	p.R130C	ASTN2_uc004bjr.1_Missense_Mutation_p.R130C|ASTN2_uc004bjt.1_Missense_Mutation_p.R130C	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	130	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						ACCGCGATGCGCCCCGGCAGC	0.692													A	120176829	G	A	120176829	3	1	45	1	0	0	0	0	1	0	0	0	1065	1087	38	1	3798	1	ASTN2	9	120176829	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2323649	120176829	21036602	645	37001											
FBXW2	26190	broad.mit.edu	37	chr9	123550083	123550083	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctttgtagtaaagtgcatAcactctggcactgtgtccaa	8	9	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:123550083A>G	uc004bkl.1	-	3	615	c.454T>C	c.(454-456)TAT>CAT	p.Y152H	FBXW2_uc011lyc.1_Missense_Mutation_p.Y23H|FBXW2_uc004bkn.2_Missense_Mutation_p.Y184H|FBXW2_uc004bkm.1_Missense_Mutation_p.Y152H|FBXW2_uc010mvj.1_Missense_Mutation_p.Y152H	NM_012164	NP_036296	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	152	WD 1.				proteolysis		protein binding|ubiquitin-protein ligase activity			urinary_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						TAAAGTGCATACACTCTGGCA	0.393													G	123550083	A	G	123550083	3	3	45	1	0	0	0	0	1	0	0	0	5766	391	14	3	934	3	FBXW2	9	123550083	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	3373254	123550083	17663348	646	37002											
NR5A1	2516	broad.mit.edu	37	chr9	127262986	127262986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacccctcatacggtcagCgcgcacggctgtgggcaggg	15	15	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:127262986C>T	uc004boo.1	-	4	440	c.253G>A	c.(253-255)GCT>ACT	p.A85T		NM_004959	NP_004950	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	85	Nuclear receptor.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0						ATACGGTCAGCGCGCACGGCT	0.542													T	127262986	C	T	127262986	3	4	45	1	0	0	0	0	1	0	0	0	10635	768	27	1	1148	1	NR5A1	9	127262986	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3712903	127262986	13950445	647	37003											
GAPVD1	26130	broad.mit.edu	37	chr9	128104522	128104522	+	Frame_Shift_Del	DEL	A	A	-													tataccatttagaaagaaagAaaaacaagaaaaagacaaag							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:128104521_128104521GA>G	uc004bpp.3	+	17	3230	c.3070_3070GA>G	c.(3070-3072)gaafs	p.E1024fs	GAPVD1_uc011lzs.1_Frame_Shift_Del_p.E997fs|GAPVD1_uc004bpq.3_Frame_Shift_Del_p.E997fs|GAPVD1_uc010mwx.3_Frame_Shift_Del_p.E997fs|GAPVD1_uc004bpr.3_Frame_Shift_Del_p.E976fs|GAPVD1_uc004bps.3_Intron|GAPVD1_uc010mwy.1_Frame_Shift_Del_p.E830fs	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	997					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TAGAAAGAAAGAAAAACAAGA	0.408													-	128104522	A	-	128104522	7	5	45	1	0	1	0	1	0	0	0	0	6239	246	9	0	3137	0	GAPVD1	9	128104522	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	841536	128104522	13108909	648	37004											
TBC1D13	54662	broad.mit.edu	37	chr9	131559481	131559481	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acggtggcccggaaccggagTggggtcacaaatgtgagtgc	17	9	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:131559481T>G	uc010myj.2	+	7	654	c.531T>G	c.(529-531)AGT>AGG	p.S177R	TBC1D13_uc010myk.2_Missense_Mutation_p.S177R|TBC1D13_uc010myl.2_5'UTR	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	177	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0						GGAACCGGAGTGGGGTCACAA	0.537													G	131559481	T	G	131559481	3	3	45	1	0	0	0	0	1	0	0	0	15599	1693	59	5	557	5	TBC1D13	9	131559481	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	3454959	131559481	9653950	649	37005											
CRAT	1384	broad.mit.edu	37	chr9	131857859	131857859	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgtcggggaccacgggcccGaagaacatgacacagtctgt	13	13	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:131857859G>A	uc004bxh.2	-	14	1980	c.1698C>T	c.(1696-1698)TTC>TTT	p.F566F	CRAT_uc004bxg.2_Silent_p.F545F|CRAT_uc004bxk.3_Silent_p.F545F	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	566				F->A: Increases the KM for carnitine 18- fold and reduces enzyme activity 100- fold.|F->Y: No effect.	energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CCACGGGCCCGAAGAACATGA	0.607													A	131857859	G	A	131857859	2	1	45	1	0	0	0	0	0	0	0	1	3847	1049	37	1		1	CRAT	9	131857859	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	298378	131857859	9355572	650	37006											
ASS1	445	broad.mit.edu	37	chr9	133355136	133355136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaccaacgtcaaggatgGcaccacccaccagacctcct	9	16	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:133355136G>A	uc004bzm.2	+	11	1078	c.722G>A	c.(721-723)GGC>GAC	p.G241D	ASS1_uc004bzn.2_Missense_Mutation_p.G241D|ASS1_uc010mza.2_Missense_Mutation_p.G317D|ASS1_uc004bzo.2_Missense_Mutation_p.G222D|ASS1_uc010mzb.2_Missense_Mutation_p.G279D|ASS1_uc004bzp.2_Missense_Mutation_p.G241D|ASS1_uc010mzc.2_Missense_Mutation_p.G241D	NM_000050	NP_000041	P00966	ASSY_HUMAN	argininosuccinate synthetase 1	241					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GTCAAGGATGGCACCACCCAC	0.652													A	133355136	G	A	133355136	3	1	45	1	0	0	0	0	1	0	0	0	1061	1203	42	2	756	2	ASS1	9	133355136	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1497277	133355136	7858295	651	37007											
BAT2L1	84726	broad.mit.edu	37	chr9	134354725	134354725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgtctggagcaaggtgaCgtgaccgtgcctggcagcag	15	9	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:134354725C>T	uc004can.3	+	18	4900	c.4845C>T	c.(4843-4845)GAC>GAT	p.D1615D	BAT2L1_uc004cao.3_Silent_p.D973D	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1615							protein binding				0						AGCAAGGTGACGTGACCGTGC	0.572													T	134354725	C	T	134354725	2	4	45	1	0	0	0	0	0	0	0	1	1320	535	19	1		1	BAT2L1	9	134354725	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	999589	134354725	6858706	652	37008											
NTNG2	84628	broad.mit.edu	37	chr9	135073569	135073569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgatgaccttcgagtacGgccggcccacggtcatggtc	14	12	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:135073569G>A	uc004cbh.2	+	3	1206	c.430G>A	c.(430-432)GGC>AGC	p.G144S		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	144	Laminin N-terminal.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CTTCGAGTACGGCCGGCCCAC	0.632													A	135073569	G	A	135073569	3	1	45	1	0	0	0	0	1	0	0	0	10705	1116	39	1	436	1	NTNG2	9	135073569	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	718844	135073569	6139862	653	37009											
BARHL1	56751	broad.mit.edu	37	chr9	135458245	135458245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaccgcgcgggcagccccGcccttcccaagggggacccc	12	22	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:135458245G>A	uc004cbp.1	+	1	253	c.61G>A	c.(61-63)GCC>ACC	p.A21T		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	21						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		GGGCAGCCCCGCCCTTCCCAA	0.662													A	135458245	G	A	135458245	3	1	45	1	0	0	0	0	1	0	0	0	1313	1087	38	1	63	1	BARHL1	9	135458245	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	384676	135458245	5755186	654	37010											
RALGDS	5900	broad.mit.edu	37	chr9	136031293	136031293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccatgacacctacctgtgCtccagcagcttgggctgagg	11	14	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:136031293C>T	uc011mcw.1	-	5	537	c.256G>A	c.(256-258)GCA>ACA	p.A86T	GBGT1_uc004ccx.2_Silent_p.E26E|GBGT1_uc010nab.2_Silent_p.E73E|GBGT1_uc011mcx.1_Silent_p.E56E|GBGT1_uc004ccw.2_Silent_p.E73E|GBGT1_uc010nac.1_5'UTR|GBGT1_uc004ccy.1_Silent_p.E73E	NM_001042368	NP_001035827	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	Error:Variant_position_missing_in_Q12967_after_alignment					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CCTACCTGTGCTCCAGCAGCT	0.557			T	CIITA	PMBL|Hodgkin Lymphona|								T	136031293	C	T	136031293	3	4	45	1	0	0	0	0	1	0	0	0	13016	796	28	2		2	RALGDS	9	136031293	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	573048	136031293	5182138	655	37011											
DBH	1621	broad.mit.edu	37	chr9	136501831	136501831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggacactgcctattttgCggtgagtctctcctccctgc	11	13	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:136501831C>T	uc004cel.2	+	1	347	c.338C>T	c.(337-339)GCG>GTG	p.A113V		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	113	DOMON.|Intragranular (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GCCTATTTTGCGGTGAGTCTC	0.587													T	136501831	C	T	136501831	3	4	45	1	0	0	0	0	1	0	0	0	4250	782	27	1	340	1	DBH	9	136501831	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	470538	136501831	4711600	656	37012											
BRD3	8019	broad.mit.edu	37	chr9	136901431	136901431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcagatgcctgcttgccGcctttcttcagctgtctggg	13	12	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:136901431G>A	uc004cew.2	-	10	1847	c.1659C>T	c.(1657-1659)GGC>GGT	p.G553G	BRD3_uc004cex.2_3'UTR	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	553	Lys-rich.					nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CCTGCTTGCCGCCTTTCTTCA	0.602			T	NUT|C15orf55	lethal midline carcinoma of young people								A	136901431	G	A	136901431	2	1	45	1	0	0	0	0	0	0	0	1	1503	1074	38	1		1	BRD3	9	136901431	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	399600	136901431	4312000	657	37013											
COL5A1	1289	broad.mit.edu	37	chr9	137642653	137642653	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttccggtttggaggtggCggcgatgcgggctccaaagg	18	9	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:137642653C>T	uc004cfe.2	+	13	1969	c.1587C>T	c.(1585-1587)GGC>GGT	p.G529G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	529	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTGGAGGTGGCGGCGATGCGG	0.637													T	137642653	C	T	137642653	2	4	45	1	0	0	0	0	0	0	0	1	3696	755	27	1		1	COL5A1	9	137642653	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	741222	137642653	3570778	658	37014											
SDCCAG3	10807	broad.mit.edu	37	chr9	139302319	139302319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggatcctctttcgagaggcCgaggttcttggtcttcagaa	12	10	4	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:139302319C>T	uc004chi.2	-	4	566	c.361G>A	c.(361-363)GGC>AGC	p.G121S	SDCCAG3_uc004chj.2_Missense_Mutation_p.G98S|SDCCAG3_uc004chk.2_Missense_Mutation_p.G48S|PMPCA_uc011mdy.1_5'Flank|PMPCA_uc010nbk.2_5'Flank|PMPCA_uc004chl.2_5'Flank|PMPCA_uc010nbl.2_5'Flank|PMPCA_uc011mdz.1_5'Flank	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	121						cytoplasm					0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TTCGAGAGGCCGAGGTTCTTG	0.468													T	139302319	C	T	139302319	3	4	45	1	0	0	0	0	1	0	0	0	13958	652	23	1	974	1	SDCCAG3	9	139302319	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1659666	139302319	1911112	659	37015											
FAM69B	138311	broad.mit.edu	37	chr9	139616671	139616671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtcggatgcggccccccGgcgggagctggtactgtttg	17	13	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:139616671G>A	uc004cik.2	+	4	495	c.401G>A	c.(400-402)CGG>CAG	p.R134Q	FAM69B_uc004cil.2_Missense_Mutation_p.R47Q|SNHG7_uc004cim.2_RNA	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	hypothetical protein LOC138311	134	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		GCGGCCCCCCGGCGGGAGCTG	0.622													A	139616671	G	A	139616671	3	1	45	1	0	0	0	0	1	0	0	0	5603	1116	39	1	415	1	FAM69B	9	139616671	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	314352	139616671	1596760	660	37016											
LCN6	158062	broad.mit.edu	37	chr9	139641886	139641886	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccactcacccgtgctgagAggacagcgtccgcaggttgt	13	14	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:139641886A>C	uc004ciy.2	-	2	265	c.220T>G	c.(220-222)TCT>GCT	p.S74A	LCN10_uc004ciw.2_RNA|uc004ciz.1_RNA	NM_198946	NP_945184	P62502	LCN6_HUMAN	lipocalin 6 precursor	74					single fertilization	extracellular region	binding				0	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		CCGTGCTGAGAGGACAGCGTC	0.627													C	139641886	A	C	139641886	3	2	45	1	0	0	0	0	1	0	0	0	8685	304	11	5	287	5	LCN6	9	139641886	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	25215	139641886	1571545	661	37017											
C9orf86	55684	broad.mit.edu	37	chr9	139732066	139732066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacggcgcagcatcatctctAggctgtttgggacgtcacct	11	13	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:139732066A>G	uc004cji.1	+	9	1346	c.1078A>G	c.(1078-1080)AGG>GGG	p.R360G	C9orf86_uc004cjj.1_Missense_Mutation_p.R361G|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Intron|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Missense_Mutation_p.R245G|C9orf86_uc004cjn.1_Missense_Mutation_p.R154G	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN	Rab-like GTP-binding protein 1 isoform 1	360	Pro-rich.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		CATCATCTCTAGGCTGTTTGG	0.701													G	139732066	A	G	139732066	3	3	45	1	0	0	0	0	1	0	0	0	2502	411	15	3	1359	3	C9orf86	9	139732066	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	90180	139732066	1481365	662	37018											
MAMDC4	158056	broad.mit.edu	37	chr9	139749902	139749902	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgtccaccctgcagccGctgcctcctgggccccgggc	14	18	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:139749902G>A	uc004cjs.2	+	12	1352	c.1302G>A	c.(1300-1302)CCG>CCA	p.P434P	MAMDC4_uc011mej.1_Intron	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	434	Extracellular (Potential).				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCCTGCAGCCGCTGCCTCCTG	0.706													A	139749902	G	A	139749902	2	1	45	1	0	0	0	0	0	0	0	1	9204	1074	38	1		1	MAMDC4	9	139749902	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	17836	139749902	1463529	663	37019											
EXD3	54932	broad.mit.edu	37	chr9	140289857	140289857	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggcagctaggaacgaggatCtgcagaaacagacaatcagg	13	8	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:140289857C>A	uc004cmp.2	-	2	150	c.-46_splice	c.e2-1		C9orf167_uc011mew.1_Intron|EXD3_uc010ncg.1_Splice_Site|EXD3_uc004cmr.2_Splice_Site|EXD3_uc004cms.2_Splice_Site|EXD3_uc004cmt.3_Splice_Site	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0						GAACGAGGATCTGCAGAAACA	0.662													A	140289857	C	A	140289857	5	1	45	1	0	0	0	0	0	0	1	0	5299	927	32	5		5	EXD3	9	140289857	Splice_Site	SNP	C	TCGA-BR-6852-01A-11D-1882-08	539955	140289857	923574	664	37020											
ARRDC1	92714	broad.mit.edu	37	chr9	140508820	140508820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaggtggagggtgcgggcGtcaaggcctggcggcgggcg	24	9	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:140508820G>A	uc004cns.2	+	6	762	c.688G>A	c.(688-690)GTC>ATC	p.V230I	ARRDC1_uc004cnt.2_Missense_Mutation_p.V105I|ARRDC1_uc004cnu.2_RNA|ARRDC1_uc004cnv.2_Missense_Mutation_p.V210I|ARRDC1_uc004cnw.2_Missense_Mutation_p.V105I|ARRDC1_uc004cnp.1_Missense_Mutation_p.V230I|ARRDC1_uc004cnq.1_Missense_Mutation_p.V212I|ARRDC1_uc011mfb.1_Missense_Mutation_p.V105I|ARRDC1_uc004cnx.1_Missense_Mutation_p.V105I|ARRDC1_uc004cny.2_RNA	NM_152285	NP_689498	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	230											0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		GGGTGCGGGCGTCAAGGCCTG	0.657													A	140508820	G	A	140508820	3	1	45	1	0	0	0	0	1	0	0	0	982	1145	40	1	710	1	ARRDC1	9	140508820	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	218963	140508820	704611	665	37021											
CACNA1B	774	broad.mit.edu	37	chr9	140777297	140777297	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggctcttacctgcggaaCggctggaacgtcatggactt	13	10	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr9:140777297C>T	uc004cog.2	+	3	637	c.492C>T	c.(490-492)AAC>AAT	p.N164N	uc004cof.1_RNA	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	164	Helical; Name=S3 of repeat I; (Potential).|I.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	ACCTGCGGAACGGCTGGAACG	0.587													T	140777297	C	T	140777297	2	4	45	1	0	0	0	0	0	0	0	1	2539	535	19	1		1	CACNA1B	9	140777297	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	268477	140777297	436134	666	37022											
LARP4B	23185	broad.mit.edu	37	chr10	909765	909765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctgggtccgactcctgCgggtctggcaatgcggcatt	14	12	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:909765C>T	uc001ifs.1	-	4	389	c.348G>A	c.(346-348)CCG>CCA	p.P116P		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	116							nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						CCGACTCCTGCGGGTCTGGCA	0.517													T	909765	C	T	909765	2	4	45	1	0	0	0	0	0	0	0	1	8631	755	27	1		1	LARP4B	10	909765	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08		909765	134624982	667	37023											
AKR1C3	8644	broad.mit.edu	37	chr10	5141002	5141002	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttctatttcagccaggtgaGgaactttcaccaacagatga	8	10	3	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:5141002G>T	uc001ihr.2	+	4	561	c.378G>T	c.(376-378)GAG>GAT	p.E126D	AKR1C3_uc010qap.1_Missense_Mutation_p.E103D|AKR1C3_uc001ihu.2_Missense_Mutation_p.E126D	NM_003739	NP_003730	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	126					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			skin(1)	1					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	AGCCAGGTGAGGAACTTTCAC	0.428													T	5141002	G	T	5141002	3	4	45	1	0	0	0	0	1	0	0	0	471	991	35	5	392	5	AKR1C3	10	5141002	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	4231237	5141002	130393745	668	37024											
C10orf18	54906	broad.mit.edu	37	chr10	5800957	5800957	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctaaaagaagatgaaaggTaaggacttgctgtgtgtatg	13	3	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:5800957T>C	uc001iij.2	+	18	7617	c.6992_splice	c.e18+2	p.R2331_splice	C10orf18_uc001iik.2_Splice_Site_p.R1175_splice	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906											ovary(1)|central_nervous_system(1)	2						AGATGAAAGGTAAGGACTTGC	0.448													C	5800957	T	C	5800957	5	2	45	1	0	0	0	0	0	0	1	0	1596	1652	57	3	7052	3	C10orf18	10	5800957	Splice_Site	SNP	T	TCGA-BR-6852-01A-11D-1882-08	659955	5800957	129733790	669	37025											
IL15RA	3601	broad.mit.edu	37	chr10	5995102	5995102	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagtcttcatctctgctgcTggtcccccaagtcaccggca	8	16	4	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:5995102T>G	uc001iiv.2	-	7	842	c.760A>C	c.(760-762)AGC>CGC	p.S254R	IL15RA_uc001iiu.2_Intron|IL15RA_uc010qau.1_Missense_Mutation_p.S221R|IL15RA_uc001iiw.2_Missense_Mutation_p.S218R|IL15RA_uc001iix.2_Missense_Mutation_p.S185R|IL15RA_uc001iiy.2_Missense_Mutation_p.S102R	NM_002189	NP_002180	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha isoform 1	254	Cytoplasmic (Potential).				cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity				0						TCTCTGCTGCTGGTCCCCCAA	0.547													G	5995102	T	G	5995102	3	3	45	1	0	0	0	0	1	0	0	0	7632	1580	55	5	47	5	IL15RA	10	5995102	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	194145	5995102	129539645	670	37026											
KIN	22944	broad.mit.edu	37	chr10	7820854	7820854	+	Frame_Shift_Del	DEL	T	T	-													ctcttcaataaatttggcagTtttttcttcatcatcaaggt							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:7820853_7820853GT>G	uc001ijt.3	-	4	600	c.506_506AC>C	c.(505-507)actfs	p.T169fs	KIN_uc010qaz.2_Non-coding_Transcript|KIN_uc010qba.2_Frame_Shift_Del_p.T63fs	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	169					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AAATTTGGCAGTTTTTTCTTC	0.458													-	7820854	T	-	7820854	7	5	45	1	0	1	0	1	0	0	0	0	8315	1725	60	0	712	0	KIN	10	7820854	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	1825752	7820854	127713893	671	37027											
PRPF18	8559	broad.mit.edu	37	chr10	13653641	13653641	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagtccttagggaaaggCgatgatcataaagacatgga	14	5	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:13653641C>T	uc001imp.2	+	6	685	c.537C>T	c.(535-537)GGC>GGT	p.G179G	PRPF18_uc001imq.2_Intron	NM_003675	NP_003666	Q99633	PRP18_HUMAN	PRP18 pre-mRNA processing factor 18 homolog	179					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)	1						TAGGGAAAGGCGATGATCATA	0.408													T	13653641	C	T	13653641	2	4	45	1	0	0	0	0	0	0	0	1	12563	755	27	1		1	PRPF18	10	13653641	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	5832787	13653641	121881106	672	37028											
DNAJC1	64215	broad.mit.edu	37	chr10	22048374	22048374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttccgcctccgaggccGggcatcagtggccccggtct	14	16	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:22048374G>A	uc001irc.2	-	11	1608	c.1321C>T	c.(1321-1323)CGG>TGG	p.R441W	DNAJC1_uc001ird.2_Missense_Mutation_p.R327W	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	441	Cytoplasmic (By similarity).				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			lung(1)	1		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CTCCGAGGCCGGGCATCAGTG	0.657													A	22048374	G	A	22048374	3	1	45	1	0	0	0	0	1	0	0	0	4628	1115	39	1	351	1	DNAJC1	10	22048374	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	8394733	22048374	113486373	673	37029											
GPR158	57512	broad.mit.edu	37	chr10	25886854	25886854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcccagagacagtcagcCggcagtgctctaaagaggac	12	11	2	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:25886854C>T	uc001isj.2	+	11	2359	c.2299C>T	c.(2299-2301)CGG>TGG	p.R767W	GPR158_uc001isk.2_Missense_Mutation_p.R142W	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	767	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						GACAGTCAGCCGGCAGTGCTC	0.572													T	25886854	C	T	25886854	3	4	45	1	0	0	0	0	1	0	0	0	6663	643	23	1	2341	1	GPR158	10	25886854	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3838480	25886854	109647893	674	37030											
ANKRD26	22852	broad.mit.edu	37	chr10	27324123	27324123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagtcttttctctgagggCatctctcgtgtgatggaact	10	9	3	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:27324123C>T	uc001ith.2	-	24	3425	c.3253G>A	c.(3253-3255)GCC>ACC	p.A1085T	ANKRD26_uc001itg.2_Missense_Mutation_p.A772T|ANKRD26_uc009xku.1_Missense_Mutation_p.A1086T	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1085	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						TCTCTGAGGGCATCTCTCGTG	0.358													T	27324123	C	T	27324123	3	4	45	1	0	0	0	0	1	0	0	0	654	710	25	2	1920	2	ANKRD26	10	27324123	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1437269	27324123	108210624	675	37031											
MASTL	84930	broad.mit.edu	37	chr10	27454412	27454412	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctcaaggactcgtatgccCtatgtctgtagatcaaaagg	9	9	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:27454412C>A	uc001itm.2	+	6	1394	c.755C>A	c.(754-756)CCT>CAT	p.P252H	MASTL_uc001itl.2_Missense_Mutation_p.P252H|MASTL_uc009xkw.1_Missense_Mutation_p.P252H|MASTL_uc009xkx.1_RNA	NM_032844	NP_116233	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine	252	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						CTCGTATGCCCTATGTCTGTA	0.318													A	27454412	C	A	27454412	3	1	45	1	0	0	0	0	1	0	0	0	9328	681	24	5	777	5	MASTL	10	27454412	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	130289	27454412	108080335	676	37032											
LYZL1	84569	broad.mit.edu	37	chr10	29581592	29581592	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggagaacaaccactgccAtgtcgcctgctcaggtgagg	13	11	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:29581592A>G	uc001iul.2	+	3	479	c.422A>G	c.(421-423)CAT>CGT	p.H141R		NM_032517	NP_115906	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	95					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0		Breast(68;0.203)				AACCACTGCCATGTCGCCTGC	0.547													G	29581592	A	G	29581592	3	3	45	1	0	0	0	0	1	0	0	0	9131	217	8	3	432	3	LYZL1	10	29581592	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	2127180	29581592	105953155	677	37033											
ZNF438	220929	broad.mit.edu	37	chr10	31134032	31134032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttccgtcccagcatctctGcacaaagcaggcagttaaag	8	13	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:31134032G>A	uc010qdz.1	-	8	2780	c.2345C>T	c.(2344-2346)GCA>GTA	p.A782V	ZNF438_uc001ivn.2_Missense_Mutation_p.A733V|ZNF438_uc010qdy.1_Missense_Mutation_p.A772V|ZNF438_uc001ivo.3_Missense_Mutation_p.A346V|ZNF438_uc009xlg.2_Missense_Mutation_p.A782V|ZNF438_uc001ivp.3_Missense_Mutation_p.A772V|ZNF438_uc010qea.1_Missense_Mutation_p.A782V|ZNF438_uc010qeb.1_Missense_Mutation_p.A782V	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	782	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				CAGCATCTCTGCACAAAGCAG	0.542													A	31134032	G	A	31134032	3	1	45	1	0	0	0	0	1	0	0	0	17907	1319	46	2	145	2	ZNF438	10	31134032	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1552440	31134032	104400715	678	37034											
KIF5B	3799	broad.mit.edu	37	chr10	32324505	32324505	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgtatgatgatggagAgcagcaaattacaatagtgg	11	5	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:32324505A>G	uc001iwe.3	-	10	1377	c.907T>C	c.(907-909)TCT>CCT	p.S303P		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	303	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)				GATGATGGAGAGCAGCAAATT	0.338													G	32324505	A	G	32324505	3	3	45	1	0	0	0	0	1	0	0	0	8306	304	11	3	2048	3	KIF5B	10	32324505	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	1190473	32324505	103210242	679	37035											
FRMPD2	143162	broad.mit.edu	37	chr10	49446167	49446167	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctgctcctggaagagcgCtggccaggggttgagaaggg	18	8	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:49446167C>T	uc001jgi.2	-	8	896	c.789_splice	c.e8-1	p.R263_splice	FRMPD2_uc001jgh.2_Splice_Site_p.R232_splice|FRMPD2_uc001jgj.2_Splice_Site_p.R241_splice	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3						tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		TGGAAGAGCGCTGGCCAGGGG	0.627													T	49446167	C	T	49446167	5	4	45	1	0	0	0	0	0	0	1	0	6058	811	28	2	3229	2	FRMPD2	10	49446167	Splice_Site	SNP	C	TCGA-BR-6852-01A-11D-1882-08	17121662	49446167	86088580	680	37036											
C10orf71	118461	broad.mit.edu	37	chr10	50530930	50530930	+	Frame_Shift_Del	DEL	A	A	-													agggagaggaaaagtaccccAaaaccagccccccaccaacg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:50530929_50530929CA>C	uc021pqb.1	+	0	339	c.339_339CA>C	c.(337-339)cccfs	p.P113fs	C10orf71_uc021pqa.1_Frame_Shift_Del_p.P112fs|C10orf71_uc021pqc.1_Frame_Shift_Del_p.P113fs	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	113										endometrium(1)	1						AAAAGTACCCCAAAACCAGCC	0.562													-	50530930	A	-	50530930	7	5	45	1	0	1	0	1	0	0	0	0	1614	131	5	0	342	0	C10orf71	10	50530930	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	1084763	50530930	85003817	681	37037											
A1CF	29974	broad.mit.edu	37	chr10	52569700	52569700	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtagccatggtgccatcGcctccatcagtggggatgcc	13	13	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:52569700G>A	uc001jjj.2	-	12	1775	c.1587C>T	c.(1585-1587)GGC>GGT	p.G529G	A1CF_uc010qhn.1_Silent_p.G529G|A1CF_uc001jji.2_Silent_p.G521G|A1CF_uc001jjh.2_Silent_p.G529G|A1CF_uc010qho.1_Silent_p.G537G|A1CF_uc009xov.2_Silent_p.G521G	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	apobec-1 complementation factor isoform 2	529					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			central_nervous_system(1)	1						TGGTGCCATCGCCTCCATCAG	0.468													A	52569700	G	A	52569700	2	1	45	1	0	0	0	0	0	0	0	1	2	1074	38	1		1	A1CF	10	52569700	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2038770	52569700	82965047	682	37038											
PRKG1	5592	broad.mit.edu	37	chr10	53227559	53227559	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgtttggggaattggcTattctttacaactgtacccg	10	7	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:53227559T>C	uc001jjm.2	+	3	704	c.510T>C	c.(508-510)GCT>GCC	p.A170A	PRKG1_uc001jjn.2_Silent_p.A185A|PRKG1_uc001jjo.2_Silent_p.A185A|PRKG1_uc010qhp.1_Silent_p.A170A	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	170	cGMP 1.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GGGAATTGGCTATTCTTTACA	0.383													C	53227559	T	C	53227559	2	2	45	1	0	0	0	0	0	0	0	1	12522	1509	53	3		3	PRKG1	10	53227559	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	657859	53227559	82307188	683	37039											
DKK1	22943	broad.mit.edu	37	chr10	54074759	54074759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccgcggaggggacgcagGcgtgcaaatctgtctcgcct	14	14	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:54074759G>A	uc001jjr.2	+	2	474	c.320G>A	c.(319-321)GGC>GAC	p.G107D	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	dickkopf homolog 1 precursor	107	DKK-type Cys-1.				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						GGGGACGCAGGCGTGCAAATC	0.617											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	54074759	G	A	54074759	3	1	45	1	0	0	0	0	1	0	0	0	4544	1203	42	2	326	2	DKK1	10	54074759	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	847200	54074759	81459988	684	37040											
PCDH15	65217	broad.mit.edu	37	chr10	55569132	55569132	+	Frame_Shift_Del	DEL	T	T	-													ctcaaggtcaacgattcctcTtttatcagctaatcctctaa							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:55569131_55569131CT>C	uc021pqw.1	-	35	5083	c.4688_4688AG>G	c.(4687-4689)agafs	p.R1563fs	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Frame_Shift_Del_p.R1558fs|PCDH15_uc021pqx.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AACGATTCCTCTTTTATCAGC	0.423										HNSCC(58;0.16)			-	55569132	T	-	55569132	7	5	45	1	0	1	0	1	0	0	0	0	11511	1617	56	0	1238	0	PCDH15	10	55569132	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	1494373	55569132	79965615	685	37041											
BICC1	80114	broad.mit.edu	37	chr10	60553279	60553279	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgttgatgtttgatatgaaGgaagaaattgaagtagatcc	12	2	0	6			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:60553279G>T	uc001jki.1	+	9	1083	c.1083G>T	c.(1081-1083)AAG>AAT	p.K361N	BICC1_uc001jkj.1_Missense_Mutation_p.K2N	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	361					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						TTGATATGAAGGAAGAAATTG	0.358													T	60553279	G	T	60553279	3	4	45	1	0	0	0	0	1	0	0	0	1427	991	35	5	1117	5	BICC1	10	60553279	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	4984147	60553279	74981468	686	37042											
ANK3	288	broad.mit.edu	37	chr10	61815606	61815606	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgctggttcttcaacaTgaccagatccatgtattttt	8	8	2	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:61815606T>C	uc001jky.2	-	42	13067	c.12875A>G	c.(12874-12876)CAT>CGT	p.H4292R	ANK3_uc001jkw.2_Missense_Mutation_p.H916R|ANK3_uc009xpa.2_Missense_Mutation_p.H916R|ANK3_uc001jkx.2_Missense_Mutation_p.H960R|ANK3_uc010qih.1_Missense_Mutation_p.H1783R|ANK3_uc001jkz.3_Missense_Mutation_p.H1776R|ANK3_uc001jkv.2_Missense_Mutation_p.H315R	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	4292					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TTCTTCAACATGACCAGATCC	0.398													C	61815606	T	C	61815606	3	2	45	1	0	0	0	0	1	0	0	0	622	1464	51	3	266	3	ANK3	10	61815606	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1262327	61815606	73719141	687	37043											
ANK3	288	broad.mit.edu	37	chr10	62023723	62023723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtcattctctagcaggagcGaaacgacttggtcgtgacct	11	10	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:62023723G>A	uc001jky.2	-	6	761	c.569C>T	c.(568-570)TCG>TTG	p.S190L	ANK3_uc010qih.1_Missense_Mutation_p.S173L|ANK3_uc001jkz.3_Missense_Mutation_p.S184L|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	190	ANK 4.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TAGCAGGAGCGAAACGACTTG	0.517													A	62023723	G	A	62023723	3	1	45	1	0	0	0	0	1	0	0	0	622	1059	37	1	13049	1	ANK3	10	62023723	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	208117	62023723	73511024	688	37044											
ZNF365	22891	broad.mit.edu	37	chr10	64136602	64136602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcagagacgagagcgggCcttaaacagacaggtggacg	15	8	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:64136602C>T	uc001jmc.2	+	2	965	c.650C>T	c.(649-651)GCC>GTC	p.A217V	ZNF365_uc001jly.3_Missense_Mutation_p.A232V|ZNF365_uc001jmb.3_Missense_Mutation_p.A217V|ZNF365_uc001jlz.3_Missense_Mutation_p.A217V|ZNF365_uc001jma.3_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform C	Error:Variant_position_missing_in_Q70YC4_after_alignment										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CGAGAGCGGGCCTTAAACAGA	0.512													T	64136602	C	T	64136602	3	4	45	1	0	0	0	0	1	0	0	0	17866	739	26	2	652	2	ZNF365	10	64136602	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2112879	64136602	71398145	689	37045											
PBLD	64081	broad.mit.edu	37	chr10	70056045	70056045	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttgtgaaacagcacagcTgcagaagccagggtggcatg	13	8	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:70056045T>C	uc001jns.1	-	4	464	c.261A>G	c.(259-261)GCA>GCG	p.A87A	PBLD_uc001jnr.1_Silent_p.A54A|PBLD_uc001jnt.1_Silent_p.A87A|PBLD_uc001jnu.1_Silent_p.A87A|PBLD_uc001jnv.1_Intron	NM_022129	NP_071412	P30039	PBLD_HUMAN	MAWD binding protein isoform a	87					biosynthetic process		isomerase activity			skin(2)|ovary(1)	3						ACAGCACAGCTGCAGAAGCCA	0.418													C	70056045	T	C	70056045	2	2	45	1	0	0	0	0	0	0	0	1	11489	1567	55	3		3	PBLD	10	70056045	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	5919443	70056045	65478702	690	37046											
TSPAN15	23555	broad.mit.edu	37	chr10	71243561	71243561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctcatcctcctgggcGtcgtcatgttcatggtctcc	8	15	5	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:71243561G>A	uc001jpo.1	+	2	336	c.211G>A	c.(211-213)GTC>ATC	p.V71I		NM_012339	NP_036471	O95858	TSN15_HUMAN	transmembrane 4 superfamily member 15	71	Helical; (Potential).					integral to plasma membrane|membrane fraction					0						CCTCCTGGGCGTCGTCATGTT	0.562													A	71243561	G	A	71243561	3	1	45	1	0	0	0	0	1	0	0	0	16636	1145	40	1	217	1	TSPAN15	10	71243561	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1187516	71243561	64291186	691	37047											
TYSND1	219743	broad.mit.edu	37	chr10	71902509	71902509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtctgcagcattacgggCgtgccattcacctgcaccac	11	14	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:71902509C>T	uc001jqr.2	-	3	1552	c.1398G>A	c.(1396-1398)ACG>ACA	p.T466T	TYSND1_uc001jqq.2_RNA|TYSND1_uc001jqs.2_Intron|TYSND1_uc001jqt.2_Intron	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1 isoform a	466	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			large_intestine(1)	1						GCATTACGGGCGTGCCATTCA	0.612													T	71902509	C	T	71902509	2	4	45	1	0	0	0	0	0	0	0	1	16814	755	27	1		1	TYSND1	10	71902509	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	658948	71902509	63632238	692	37048											
POLR3A	11128	broad.mit.edu	37	chr10	79741970	79741970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgtgtgtggccatgactGcccgcaggttatcaccttcc	10	15	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:79741970G>A	uc001jzn.2	-	28	3795	c.3701C>T	c.(3700-3702)GCA>GTA	p.A1234V		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	1234					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GGCCATGACTGCCCGCAGGTT	0.562													A	79741970	G	A	79741970	3	1	45	1	0	0	0	0	1	0	0	0	12228	1319	46	2	487	2	POLR3A	10	79741970	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	7839461	79741970	55792777	693	37049											
NRG3	10718	broad.mit.edu	37	chr10	84744984	84744984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctattcatccacaagggccAgttctgtgcccatcatccct	7	15	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:84744984A>G	uc001kco.2	+	9	1741	c.1714A>G	c.(1714-1716)AGT>GGT	p.S572G	NRG3_uc010qlz.1_Missense_Mutation_p.S571G|NRG3_uc001kcp.2_Missense_Mutation_p.S375G|NRG3_uc001kcq.2_Missense_Mutation_p.S222G|NRG3_uc001kcr.2_Missense_Mutation_p.S246G	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	596	Cytoplasmic (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CACAAGGGCCAGTTCTGTGCC	0.438													G	84744984	A	G	84744984	3	3	45	1	0	0	0	0	1	0	0	0	10649	188	7	3	1992	3	NRG3	10	84744984	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	5003014	84744984	50789763	694	37050											
WAPAL	23063	broad.mit.edu	37	chr10	88259864	88259864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgaactcatccatgctgCgttccatagtatcctgtatg	8	11	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:88259864C>T	uc001kdo.2	-	3	1578	c.1136G>A	c.(1135-1137)CGC>CAC	p.R379H	WAPAL_uc001kdn.2_Missense_Mutation_p.R422H|WAPAL_uc009xsw.2_Missense_Mutation_p.R379H	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	379	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1						ATCCATGCTGCGTTCCATAGT	0.428													T	88259864	C	T	88259864	3	4	45	1	0	0	0	0	1	0	0	0	17245	768	27	1	2504	1	WAPAL	10	88259864	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3514880	88259864	47274883	695	37051											
CPEB3	22849	broad.mit.edu	37	chr10	93999718	93999718	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggaagagcatggtcccgttGactggggtgatcccctggaa	15	9	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:93999718G>T	uc001khw.1	-	2	563	c.390C>A	c.(388-390)GTC>GTA	p.V130V	CPEB3_uc001khu.1_Silent_p.V130V|CPEB3_uc001khv.1_Silent_p.V130V|CPEB3_uc010qnn.1_Silent_p.V130V	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding	130	Pro-rich.						nucleotide binding|RNA binding				0		Colorectal(252;0.0869)				TGGTCCCGTTGACTGGGGTGA	0.657													T	93999718	G	T	93999718	2	4	45	1	0	0	0	0	0	0	0	1	3802	1277	45	5		5	CPEB3	10	93999718	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	5739854	93999718	41535029	696	37052											
TMEM20	159371	broad.mit.edu	37	chr10	95660776	95660776	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccatttttgtttggttcCgacacttcggggatggaaga	11	9	0	1	rs148915546		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:95660776C>T	uc001kjg.1	+	3	688	c.627C>T	c.(625-627)TCC>TCT	p.S209S	TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Silent_p.S208S|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Silent_p.S192S|TMEM20_uc001kjj.2_Intron	NM_001134658	NP_001128130	Q2M3R5	TMM20_HUMAN	transmembrane protein 20 isoform 1	209						integral to membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;3.46e-05)|Renal(717;0.018)|Ovarian(717;0.0228)|all_hematologic(284;0.189)		STAD - Stomach adenocarcinoma(243;0.00345)		TGTTTGGTTCCGACACTTCGG	0.448													T	95660776	C	T	95660776	2	4	45	1	0	0	0	0	0	0	0	1	16119	639	23	1		1	TMEM20	10	95660776	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1661058	95660776	39873971	697	37053											
SORBS1	10580	broad.mit.edu	37	chr10	97101123	97101123	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatattccaaaacctgcacTggtgtcaactttttgggctg	8	11	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:97101123T>C	uc001kkp.2	-	26	2634	c.2589A>G	c.(2587-2589)CCA>CCG	p.P863P	SORBS1_uc001kkk.2_Silent_p.P357P|SORBS1_uc001kkl.2_Silent_p.P465P|SORBS1_uc001kkn.2_Silent_p.P628P|SORBS1_uc001kkm.2_Silent_p.P663P|SORBS1_uc001kko.2_Silent_p.P885P|SORBS1_uc001kkq.2_Silent_p.P714P|SORBS1_uc001kkr.2_Silent_p.P569P|SORBS1_uc001kks.2_Silent_p.P513P|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Silent_p.P610P|SORBS1_uc001kkv.2_Silent_p.P645P|SORBS1_uc001kkw.2_Silent_p.P817P|SORBS1_uc010qoe.1_Silent_p.P578P	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	863					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AAACCTGCACTGGTGTCAACT	0.264													C	97101123	T	C	97101123	2	2	45	1	0	0	0	0	0	0	0	1	14927	1567	55	3		3	SORBS1	10	97101123	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1440347	97101123	38433624	698	37054											
PI4K2A	55361	broad.mit.edu	37	chr10	99361742	99361742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgcctcattgagccaaacGctgcggtgagccagtggcag	13	13	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:99361742G>A	uc010qoy.1	+	2	699	c.340G>A	c.(340-342)GCT>ACT	p.A114T	DHDPSL_uc001kny.2_Missense_Mutation_p.A277T|DHDPSL_uc001knz.2_Missense_Mutation_p.A114T	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	Error:Variant_position_missing_in_Q9BTU6_after_alignment					phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			lung(1)|skin(1)	2		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		TGAGCCAAACGCTGCGGTGAG	0.672													A	99361742	G	A	99361742	3	1	45	1	0	0	0	0	1	0	0	0	11871	1087	38	1		1	PI4K2A	10	99361742	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2260619	99361742	36173005	699	37055											
HPS1	3257	broad.mit.edu	37	chr10	100185471	100185471	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaccagggccaggggcgcgcTggggctctgagggtaagggc	20	10	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:100185471T>A	uc010qpf.1	-	13	1408	c.1162A>T	c.(1162-1164)AGC>TGC	p.S388C	HPS1_uc001kpi.1_Missense_Mutation_p.S388C|HPS1_uc001kpj.1_Missense_Mutation_p.S295C|HPS1_uc001kpk.1_Missense_Mutation_p.S212C|HPS1_uc010qpg.1_Intron|HPS1_uc009xwb.2_RNA	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1 protein isoform a	388					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			skin(1)	1		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGGGGCGCGCTGGGGCTCTGA	0.677									Hermansky-Pudlak_syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	100185471	T	A	100185471	3	1	45	1	0	0	0	0	1	0	0	0	7339	1580	55	5	972	5	HPS1	10	100185471	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	823729	100185471	35349276	700	37056											
HPSE2	60495	broad.mit.edu	37	chr10	100503680	100503680	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttgtactttttgctggcGctgtacttcaacagactcag	9	9	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:100503680G>A	uc001kpn.1	-	4	804	c.744C>T	c.(742-744)AGC>AGT	p.S248S	HPSE2_uc009xwc.1_Silent_p.S238S|HPSE2_uc001kpo.1_Intron|HPSE2_uc009xwd.1_Intron	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	heparanase 2	248					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			ovary(1)	1				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TTTTGCTGGCGCTGTACTTCA	0.418													A	100503680	G	A	100503680	2	1	45	1	0	0	0	0	0	0	0	1	7345	1078	38	1		1	HPSE2	10	100503680	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	318209	100503680	35031067	701	37057											
PAX2	5076	broad.mit.edu	37	chr10	102587324	102587324	+	Frame_Shift_Del	DEL	C	C	-													cccttattattatagtgccgCcccccggggctccgcccctg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:102587323_102587323GC>G	uc001krk.4	+	10	1732	c.1182_1182GC>G	c.(1180-1182)ccgfs	p.P394fs	PAX2_uc001krm.4_Frame_Shift_Del_p.A401fs|PAX2_uc001krn.4_Frame_Shift_Del_p.P371fs|PAX2_uc001kro.4_Frame_Shift_Del_p.A378fs|PAX2_uc010qps.2_Frame_Shift_Del_p.A377fs|PAX2_uc001krl.4_3'UTR	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	394					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TTATAGTGCCGCCCCCCGGGG	0.572													-	102587324	C	-	102587324	7	5	45	1	0	1	0	1	0	0	0	0	11479	739	26	0	1331	0	PAX2	10	102587324	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	2083644	102587324	32947423	702	37058											
SEMA4G	57715	broad.mit.edu	37	chr10	102743183	102743183	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgggagcatgggcctgagCgatgggcagggtggctaccg	19	8	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:102743183C>T	uc001krw.1	+	14	2211	c.1827C>T	c.(1825-1827)AGC>AGT	p.S609S	SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krx.2_Intron|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron|MRPL43_uc001krz.1_Intron|MRPL43_uc001ksa.1_Intron|MRPL43_uc001ksb.1_Intron	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	semaphorin 4G	604	Extracellular (Potential).|Ig-like C2-type.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TGGGCCTGAGCGATGGGCAGG	0.627													T	102743183	C	T	102743183	2	4	45	1	0	0	0	0	0	0	0	1	14036	767	27	1		1	SEMA4G	10	102743183	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	155859	102743183	32791564	703	37059											
C10orf2	56652	broad.mit.edu	37	chr10	102748165	102748165	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccgccagtatttgcggggGcatgggatccccttccagga	13	12	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:102748165G>A	uc001ksf.2	+	1	873	c.198G>A	c.(196-198)GGG>GGA	p.G66G	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Silent_p.G66G|C10orf2_uc001ksi.2_Intron|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksh.2_Intron	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A	66					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		ATTTGCGGGGGCATGGGATCC	0.562													A	102748165	G	A	102748165	2	1	45	1	0	0	0	0	0	0	0	1	1597	1190	42	2		2	C10orf2	10	102748165	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	4982	102748165	32786582	704	37060											
C10orf2	56652	broad.mit.edu	37	chr10	102748553	102748553	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcaagcgtttcagtgtgCgatatctgcgacctgctcgc	10	13	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:102748553C>T	uc001ksf.2	+	1	1261	c.586C>T	c.(586-588)CGA>TGA	p.R196*	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Nonsense_Mutation_p.R196*|C10orf2_uc001ksi.2_Intron|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksh.2_Intron	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A	196					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TTTCAGTGTGCGATATCTGCG	0.547													T	102748553	C	T	102748553	4	4	45	1	0	0	0	0	0	1	0	0	1597	760	27	1	588	1	C10orf2	10	102748553	Nonsense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	388	102748553	32786194	705	37061											
TLX1NB	100038246	broad.mit.edu	37	chr10	102849604	102849604	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcttgggaaaggagagagTgctgacttgcccatgccccc	12	13	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:102849604T>G	uc001ksv.2	-	3	1356	c.59A>C	c.(58-60)CAC>CCC	p.H20P		NM_001085398	NP_001078867	P0CAT3	TLXNB_HUMAN	TLX1 divergent	20											0						AAGGAGAGAGTGCTGACTTGC	0.642													G	102849604	T	G	102849604	3	3	45	1	0	0	0	0	1	0	0	0	15957	1696	59	5	313	5	TLX1NB	10	102849604	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	101051	102849604	32685143	706	37062											
DPCD	25911	broad.mit.edu	37	chr10	103360573	103360573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagacccagcgcccctagGagcagggaacctggggcctg	16	13	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:103360573G>A	uc001ktn.2	+	3	229	c.224G>A	c.(223-225)GGA>GAA	p.G75E	hsa-mir-3158-1|MI0014186_5'Flank	NM_015448	NP_056263	Q9BVM2	DPCD_HUMAN	DPCD protein	75							protein binding			skin(1)	1						GCGCCCCTAGGAGCAGGGAAC	0.557													A	103360573	G	A	103360573	3	1	45	1	0	0	0	0	1	0	0	0	4711	1174	41	4	234	4	DPCD	10	103360573	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	510969	103360573	32174174	707	37063											
CNNM2	54805	broad.mit.edu	37	chr10	104679834	104679834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgacaccaagttggacGctatgctggaagaatttaag	10	7	1	2	rs146507239		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:104679834G>A	uc001kwm.2	+	1	1721	c.1597G>A	c.(1597-1599)GCT>ACT	p.A533T	CNNM2_uc001kwn.2_Missense_Mutation_p.A533T|CNNM2_uc001kwl.2_Missense_Mutation_p.A533T	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	533	CBS 2.				ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAAGTTGGACGCTATGCTGGA	0.463													A	104679834	G	A	104679834	3	1	45	1	0	0	0	0	1	0	0	0	3613	1087	38	1	1599	1	CNNM2	10	104679834	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1319261	104679834	30854913	708	37064											
SLK	9748	broad.mit.edu	37	chr10	105761303	105761303	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagatggcaaagaggaagaTgaagaggaggaaacagaaaa	15	2	0	6	rs139324300		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:105761303T>C	uc001kxo.1	+	8	1000	c.966T>C	c.(964-966)GAT>GAC	p.D322D	SLK_uc001kxp.1_Silent_p.D322D	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	322	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		aagaggaagatgaagaggagg	0.279													C	105761303	T	C	105761303	2	2	45	1	0	0	0	0	0	0	0	1	14748	1461	51	3		3	SLK	10	105761303	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1081469	105761303	29773444	709	37065											
ITPRIP	85450	broad.mit.edu	37	chr10	106075805	106075805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacgcggaagagccccatgGccatggttggagctttcctg	13	12	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:106075805G>A	uc001kye.2	-	2	78	c.5C>T	c.(4-6)GCC>GTC	p.A2V	ITPRIP_uc001kyf.2_Missense_Mutation_p.A2V|ITPRIP_uc001kyg.2_Missense_Mutation_p.A2V	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-triphosphate receptor interacting	2						plasma membrane					0						GAGCCCCATGGCCATGGTTGG	0.627													A	106075805	G	A	106075805	3	1	45	1	0	0	0	0	1	0	0	0	7923	1203	42	2	1642	2	ITPRIP	10	106075805	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	314502	106075805	29458942	710	37066											
PDCD4	27250	broad.mit.edu	37	chr10	112647471	112647471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgaaaagtggagtaccaGtgttggcagtatccttagca	11	6	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:112647471G>A	uc001kzh.2	+	6	847	c.604G>A	c.(604-606)GTG>ATG	p.V202M	PDCD4_uc001kzg.2_Missense_Mutation_p.V191M|PDCD4_uc010qre.1_Missense_Mutation_p.V188M	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	programmed cell death 4 isoform 1	202	MI 1.				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			ovary(1)|breast(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TGGAGTACCAGTGTTGGCAGT	0.353													A	112647471	G	A	112647471	3	1	45	1	0	0	0	0	1	0	0	0	11621	1029	36	4	636	4	PDCD4	10	112647471	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	6571666	112647471	22887276	711	37067											
HABP2	3026	broad.mit.edu	37	chr10	115336940	115336940	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaaggacaacccatgtggCcggggccaatgtctcattac	11	12	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:115336940C>T	uc001lai.3	+	5	466	c.363C>T	c.(361-363)GGC>GGT	p.G121G	HABP2_uc010qrz.1_RNA|HABP2_uc010qry.1_Missense_Mutation_p.A110V	NM_004132	NP_004123	Q14520	HABP2_HUMAN	hyaluronan binding protein 2 preproprotein	121	EGF-like 2.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		ACCCATGTGGCCGGGGCCAAT	0.488													T	115336940	C	T	115336940	2	4	45	1	0	0	0	0	0	0	0	1	6938	726	26	2		2	HABP2	10	115336940	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2689469	115336940	20197807	712	37068											
ATRNL1	26033	broad.mit.edu	37	chr10	116930893	116930893	+	Frame_Shift_Del	DEL	A	A	-													catagtcagtcatggagtacAaaaactcctactgttcttgg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:116930892_116930892CA>C	uc001lcg.3	+	7	1576	c.1190_1190CA>C	c.(1189-1191)acafs	p.T397fs	ATRNL1_uc001lce.3_Non-coding_Transcript|ATRNL1_uc001lcf.3_Frame_Shift_Del_p.T397fs	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	397						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCATGGAGTACAAAAACTCCT	0.383													-	116930893	A	-	116930893	7	5	45	1	0	1	0	1	0	0	0	0	1207	117	5	0	1221	0	ATRNL1	10	116930893	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	1593953	116930893	18603854	713	37069											
PNLIP	5406	broad.mit.edu	37	chr10	118306822	118306822	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaaaagaagtttgctaCgaaagactcggctgcttcag	12	8	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:118306822C>T	uc001lcm.2	+	3	106	c.63C>T	c.(61-63)TAC>TAT	p.Y21Y		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor	21					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|skin(1)	3				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AAGTTTGCTACGAAAGACTCG	0.428													T	118306822	C	T	118306822	2	4	45	1	0	0	0	0	0	0	0	1	12149	547	19	1		1	PNLIP	10	118306822	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1375929	118306822	17227925	714	37070											
HTRA1	5654	broad.mit.edu	37	chr10	124249045	124249045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggtgaccaacaagcaccGggtcaaagttgagctgaaga	13	9	1	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:124249045G>A	uc001lgj.2	+	3	808	c.680G>A	c.(679-681)CGG>CAG	p.R227Q		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1 precursor	227	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AACAAGCACCGGGTCAAAGTT	0.493													A	124249045	G	A	124249045	3	1	45	1	0	0	0	0	1	0	0	0	7453	1116	39	1	690	1	HTRA1	10	124249045	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	5942223	124249045	11285702	715	37071											
MKI67	4288	broad.mit.edu	37	chr10	129901083	129901083	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgcagcctcttggttccCgtgacgcttccatctttgcc	9	16	2	1	rs141921507	byFrequency	TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:129901083C>T	uc001lke.2	-	13	9216	c.9021G>A	c.(9019-9021)ACG>ACA	p.T3007T	MKI67_uc001lkf.2_Silent_p.T2647T|MKI67_uc009yav.1_Silent_p.T2582T|MKI67_uc009yaw.1_Silent_p.T2157T	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	3007					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTTGGTTCCCGTGACGCTTC	0.562													T	129901083	C	T	129901083	2	4	45	1	0	0	0	0	0	0	0	1	9598	639	23	1		1	MKI67	10	129901083	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	5652038	129901083	5633664	716	37072											
MKI67	4288	broad.mit.edu	37	chr10	129902596	129902596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtagtctcccctgatgtcCgtgtgagcttgctgactgct	12	12	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:129902596C>T	uc001lke.2	-	13	7703	c.7508G>A	c.(7507-7509)CGG>CAG	p.R2503Q	MKI67_uc001lkf.2_Missense_Mutation_p.R2143Q|MKI67_uc009yav.1_Missense_Mutation_p.R2078Q|MKI67_uc009yaw.1_Missense_Mutation_p.R1653Q	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2503	16 X 122 AA approximate repeats.|13.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCCTGATGTCCGTGTGAGCTT	0.498													T	129902596	C	T	129902596	3	4	45	1	0	0	0	0	1	0	0	0	9598	652	23	1	2274	1	MKI67	10	129902596	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1513	129902596	5632151	717	37073											
GLRX3	10539	broad.mit.edu	37	chr10	131958325	131958325	+	Frame_Shift_Del	DEL	T	T	-													gctctgttcccacttttctgTttttcaaggtaaggataaag							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr10:131958324_131958324GT>G	uc001lkn.2	+	2	313	c.267_267GT>G	c.(265-267)ctgfs	p.L89fs	GLRX3_uc001lkm.2_Frame_Shift_Del_p.L89fs|GLRX3_uc001lko.3_Non-coding_Transcript|GLRX3_uc021qay.1_5'UTR	NM_001199868	NP_001186797	O76003	GLRX3_HUMAN	Homo sapiens glutaredoxin 3 (GLRX3), transcript variant 1, mRNA.	89	Thioredoxin.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		CCACTTTTCTGTTTTTCAAGG	0.363													-	131958325	T	-	131958325	7	5	45	1	0	1	0	1	0	0	0	0	6461	1725	60	0	278	0	GLRX3	10	131958325	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	2055729	131958325	3576422	718	37074											
ANO9	338440	broad.mit.edu	37	chr11	418560	418560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcgggcacgaaccaggcGgcgatgagcttgatgcacaa	14	10	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:418560G>A	uc001lpi.2	-	23	2245	c.2160C>T	c.(2158-2160)GCC>GCT	p.A720A	SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Silent_p.A413A|ANO9_uc010qvv.1_Silent_p.A576A	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	720	Helical; (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						CGAACCAGGCGGCGATGAGCT	0.622													A	418560	G	A	418560	2	1	45	1	0	0	0	0	0	0	0	1	704	1103	39	1		1	ANO9	11	418560	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08		418560	134587956	719	37075											
RNH1	6050	broad.mit.edu	37	chr11	494914	494914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaggcagcccggctgccGgacgctctccaccagctgca	13	17	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:494914G>A	uc001lpk.1	-	8	2675	c.1267C>T	c.(1267-1269)CGG>TGG	p.R423W	RNH1_uc001lpl.1_Missense_Mutation_p.R423W|RNH1_uc001lpm.1_Missense_Mutation_p.R423W|RNH1_uc001lpn.1_Missense_Mutation_p.R423W|RNH1_uc001lpo.1_Missense_Mutation_p.R423W|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Missense_Mutation_p.R423W|RNH1_uc001lpt.1_Missense_Mutation_p.R180W|RNH1_uc001lpq.1_Missense_Mutation_p.R423W|RNH1_uc001lpr.1_Missense_Mutation_p.R423W|RNH1_uc001lps.1_Missense_Mutation_p.R423W	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	423	LRR 15.			RQ -> SE (in Ref. 2; CAA32151/AAA60249).	mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCGGCTGCCGGACGCTCTCC	0.711													A	494914	G	A	494914	3	1	45	1	0	0	0	0	1	0	0	0	13504	1115	39	1	126	1	RNH1	11	494914	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	76354	494914	134511602	720	37076											
RNH1	6050	broad.mit.edu	37	chr11	498841	498841	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacatcacccagcttgttgCtgcccagggccagctcccgc	9	19	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:498841C>A	uc001lpk.1	-	5	2115	c.707G>T	c.(706-708)AGC>ATC	p.S236I	RNH1_uc001lpl.1_Missense_Mutation_p.S236I|RNH1_uc001lpm.1_Missense_Mutation_p.S236I|RNH1_uc001lpn.1_Missense_Mutation_p.S236I|RNH1_uc001lpo.1_Missense_Mutation_p.S236I|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Missense_Mutation_p.S236I|RNH1_uc001lpt.1_5'UTR|RNH1_uc001lpq.1_Missense_Mutation_p.S236I|RNH1_uc001lpr.1_Missense_Mutation_p.S236I|RNH1_uc001lps.1_Missense_Mutation_p.S236I	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	236	LRR 8.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGCTTGTTGCTGCCCAGGGC	0.672													A	498841	C	A	498841	3	1	45	1	0	0	0	0	1	0	0	0	13504	797	28	5	698	5	RNH1	11	498841	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3927	498841	134507675	721	37077											
RRM1	6240	broad.mit.edu	37	chr11	4144429	4144429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagttatgagaaacaaggtCgtgtccgcaaagttgtaaaa	10	6	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:4144429C>T	uc001lyw.3	+	12	1454	c.1135C>T	c.(1135-1137)CGT>TGT	p.R379C	RRM1_uc009yej.2_RNA|RRM1_uc009yei.2_Missense_Mutation_p.R339C|RRM1_uc010qyc.1_Missense_Mutation_p.R282C|RRM1_uc010qyd.1_Missense_Mutation_p.R41C	NM_001033	NP_001024	P23921	RIR1_HUMAN	ribonucleoside-diphosphate reductase M1 chain	379					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	GAAACAAGGTCGTGTCCGCAA	0.353													T	4144429	C	T	4144429	3	4	45	1	0	0	0	0	1	0	0	0	13681	884	31	1	1181	1	RRM1	11	4144429	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3645588	4144429	130862087	722	37078											
TRIM6	117854	broad.mit.edu	37	chr11	5632556	5632556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaattcctatgaccctgcGtcgtccaagctcttgaatat	7	11	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:5632556G>A	uc001mbc.1	+	8	1583	c.1451G>A	c.(1450-1452)CGT>CAT	p.R484H	HBG2_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.2_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.R458H|TRIM6_uc010qzj.1_Missense_Mutation_p.R309H|TRIM6_uc001mbe.2_Missense_Mutation_p.R309H|TRIM6_uc010qzk.1_Missense_Mutation_p.R309H|TRIM6_uc010qzl.1_Missense_Mutation_p.R309H|TRIM6_uc001mbd.2_Missense_Mutation_p.R512H|TRIM6_uc001mbg.1_Missense_Mutation_p.R309H|TRIM6_uc009yep.1_3'UTR	NM_058166	NP_477514	Q9C030	TRIM6_HUMAN	tripartite motif-containing 6 isoform 2	484	B30.2/SPRY.				protein trimerization	cytoplasm	zinc ion binding				0		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATGACCCTGCGTCGTCCAAGC	0.413													A	5632556	G	A	5632556	3	1	45	1	0	0	0	0	1	0	0	0	16530	1145	40	1	1565	1	TRIM6	11	5632556	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1488127	5632556	129373960	723	37079											
OR52E6	390078	broad.mit.edu	37	chr11	5862873	5862874	+	Missense_Mutation	DNP	GC	GC	TT													ttgatattgaaccagaagatGcccagcattttgggaatggt							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:5862873_5862874GC>TT	uc010qzq.1	-	1	254_255	c.254_255GC>AA	c.(253-255)GGC>GAA	p.G85E	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E,	85	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAGAAGATGCCCAGCATTTT	0.465													TT	5862874	GC	TT	5862873	3	4	45	1	0	0	0	0	1	0	0	0	11117	1306	46	5	688	5	OR52E6	11	5862873	Missense_Mutation	DNP	GC	TCGA-BR-6852-01A-11D-1882-08	230317	5862873	129143643	724	37080											
FAM160A2	84067	broad.mit.edu	37	chr11	6238994	6238994	+	Frame_Shift_Del	DEL	C	C	-													cagctcttcctcctccccttCccccacgttgttcctgtcct							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:6238994delC	uc001mcl.3	-	9	2181	c.1822delG	c.(1822-1824)GAAfs	p.E608fs	FAM160A2_uc001mck.3_Frame_Shift_Del_p.E622fs|FAM160A2_uc001mcm.2_Frame_Shift_Del_p.E608fs	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	608					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						tcctccccttcccccacgttg	0.383													-	6238994	C	-	6238994	7	5	45	1	0	1	0	1	0	0	0	0	5469	864	30	0	1112	0	FAM160A2	11	6238994	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	376121	6238994	128767522	725	37081											
OR10A4	283297	broad.mit.edu	37	chr11	6898314	6898314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatatcctgtgcccagctgGcagctgcctcttggttctca	9	14	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:6898314G>A	uc010rat.1	+	1	436	c.436G>A	c.(436-438)GCA>ACA	p.A146T		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A,	146	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGCCCAGCTGGCAGCTGCCTC	0.552													A	6898314	G	A	6898314	3	1	45	1	0	0	0	0	1	0	0	0	10892	1203	42	2	438	2	OR10A4	11	6898314	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	659320	6898314	128108202	726	37082											
ZNF214	7761	broad.mit.edu	37	chr11	7021712	7021712	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtactaactgatgaattcgaAgatttgagctctggctgaaa	10	6	1	5			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:7021712A>C	uc001mfa.2	-	3	1505	c.1202T>G	c.(1201-1203)CTT>CGT	p.L401R	ZNF214_uc010ray.1_Missense_Mutation_p.L401R|ZNF214_uc009yfh.1_Missense_Mutation_p.L401R	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	401	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		ATGAATTCGAAGATTTGAGCT	0.408													C	7021712	A	C	7021712	3	2	45	1	0	0	0	0	1	0	0	0	17767	72	3	5	622	5	ZNF214	11	7021712	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	123398	7021712	127984804	727	37083											
ZNF214	7761	broad.mit.edu	37	chr11	7022691	7022691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgattctcatacatctgggCgccagcattccaccagcctt	7	15	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:7022691C>T	uc001mfa.2	-	3	526	c.223G>A	c.(223-225)GCC>ACC	p.A75T	ZNF214_uc010ray.1_Missense_Mutation_p.A75T|ZNF214_uc009yfh.1_Missense_Mutation_p.A75T	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TACATCTGGGCGCCAGCATTC	0.418													T	7022691	C	T	7022691	3	4	45	1	0	0	0	0	1	0	0	0	17767	768	27	1	1601	1	ZNF214	11	7022691	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	979	7022691	127983825	728	37084											
RBMXL2	27288	broad.mit.edu	37	chr11	7111338	7111338	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgacagttacagcagcagTtatggccggagcgaccgcta	13	12	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:7111338T>C	uc001mfc.2	+	1	1174	c.987T>C	c.(985-987)AGT>AGC	p.S329S		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	329	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACAGCAGCAGTTATGGCCGGA	0.672													C	7111338	T	C	7111338	2	2	45	1	0	0	0	0	0	0	0	1	13154	1722	60	3		3	RBMXL2	11	7111338	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	88647	7111338	127895178	729	37085											
IPO7	10527	broad.mit.edu	37	chr11	9451349	9451349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatatagtgaagaagttActcctattgcagtagaaatg	10	4	0	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:9451349A>G	uc001mho.2	+	15	1862	c.1720A>G	c.(1720-1722)ACT>GCT	p.T574A		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	574					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGAAGAAGTTACTCCTATTGC	0.348													G	9451349	A	G	9451349	3	3	45	1	0	0	0	0	1	0	0	0	7797	391	14	3	1778	3	IPO7	11	9451349	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	2340011	9451349	125555167	730	37086											
USH1C	10083	broad.mit.edu	37	chr11	17518326	17518327	+	Frame_Shift_Ins	INS	-	-	G													ctcatcgtcatactcctttgINSgggggcagacggcaaccaca							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:17518325_17518326T>TG	uc001mnf.3	-	19	1734_1735	c.1625_1626A>CA	c.(1624-1626)ccafs	p.P542fs	USH1C_uc001mne.3_Frame_Shift_Ins_p.P842fs|USH1C_uc009yhb.3_Frame_Shift_Ins_p.P523fs|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Frame_Shift_Ins_p.P506fs	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	542					G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CATACTCCTTTGGGGGGCAGAC	0.579													G	17518327	-	G	17518326	7	5	45	1	0	1	1	0	0	0	0	0	17031	1348	47	0	186	0	USH1C	11	17518326	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	8066977	17518326	117488190	731	37087											
USH1C	10083	broad.mit.edu	37	chr11	17519712	17519712	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggccttattcttaccccGccctgattccaggccttctg	9	15	2	1	rs142801489		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:17519712G>A	uc001mnf.2	-	19	1696	c.1587C>T	c.(1585-1587)GGC>GGT	p.G529G	USH1C_uc001mne.2_Silent_p.G829G|USH1C_uc009yhb.2_Silent_p.G510G|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Silent_p.G493G	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	harmonin isoform a	529	PDZ 3.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			ovary(1)	1						TTCTTACCCCGCCCTGATTCC	0.577													A	17519712	G	A	17519712	2	1	45	1	0	0	0	0	0	0	0	1	17031	1074	38	1		1	USH1C	11	17519712	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1386	17519712	117486804	732	37088											
SAAL1	113174	broad.mit.edu	37	chr11	18108473	18108474	+	Frame_Shift_Ins	INS	-	-	A													tagatggcagacaacactgaINSaaaaacagaggctagcactg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:18108472_18108473G>GA	uc001mnq.3	-	8	1032_1033	c.982_983C>TC	c.(982-984)tcafs	p.S328fs	SAAL1_uc001mnr.3_Frame_Shift_Ins_p.S328fs	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN	Homo sapiens serum amyloid A-like 1 (SAAL1), mRNA.	328					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						AGACAACACTGAAAAAACAGAG	0.406													A	18108474	-	A	18108473	7	5	45	1	0	1	1	0	0	0	0	0	13801	246	9	0	458	0	SAAL1	11	18108473	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	588761	18108473	116898043	733	37089											
MRGPRX3	117195	broad.mit.edu	37	chr11	18159640	18159640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagagggctctgcaggaCacgcctgaggtggatgaagg	16	10	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:18159640C>T	uc001mnu.2	+	3	1252	c.891C>T	c.(889-891)GAC>GAT	p.D297D		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	297	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						CTCTGCAGGACACGCCTGAGG	0.562													T	18159640	C	T	18159640	2	4	45	1	0	0	0	0	0	0	0	1	9768	477	17	4		4	MRGPRX3	11	18159640	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	51167	18159640	116846876	734	37090											
PTPN5	84867	broad.mit.edu	37	chr11	18751286	18751287	+	Frame_Shift_Ins	INS	-	-	G													ccgcaccaggtgcaggagtgINSggggggcccggtctggggtc					rs138509696		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:18751285_18751286T>TG	uc001mpd.3	-	12	1840_1841	c.1409_1410A>CA	c.(1408-1410)ccafs	p.P470fs	PTPN5_uc001mpb.3_Frame_Shift_Ins_p.P438fs|PTPN5_uc001mpc.3_Frame_Shift_Ins_p.P470fs|PTPN5_uc010rdj.2_Frame_Shift_Ins_p.P414fs|PTPN5_uc001mpf.3_Frame_Shift_Ins_p.P446fs|PTPN5_uc001mpe.3_Frame_Shift_Ins_p.P438fs|PTPN5_uc010rdk.2_Frame_Shift_Ins_p.P415fs	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	470	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GGTGCAGGAGTGGGGGGGCCCG	0.678													G	18751287	-	G	18751286	7	5	45	1	0	1	1	0	0	0	0	0	12791	1348	47	0	300	0	PTPN5	11	18751286	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	591646	18751286	116255230	735	37091											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955384	18955384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgctccaatctgcttccCgacagctccaggatttcctc	6	17	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:18955384C>T	uc001mpg.2	-	1	1166	c.948G>A	c.(946-948)TCG>TCA	p.S316S		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	316	Cytoplasmic (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3						ATCTGCTTCCCGACAGCTCCA	0.547													T	18955384	C	T	18955384	2	4	45	1	0	0	0	0	0	0	0	1	9766	639	23	1		1	MRGPRX1	11	18955384	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	204098	18955384	116051132	736	37092											
MRGPRX1	259249	broad.mit.edu	37	chr11	18956154	18956154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggatgtagatggagaaggCgttcctgcgcatgcggcagc	17	8	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:18956154C>T	uc001mpg.2	-	1	396	c.178G>A	c.(178-180)GCC>ACC	p.A60T		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	60	Cytoplasmic (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3						ATGGAGAAGGCGTTCCTGCGC	0.567													T	18956154	C	T	18956154	3	4	45	1	0	0	0	0	1	0	0	0	9766	768	27	1	794	1	MRGPRX1	11	18956154	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	770	18956154	116050362	737	37093											
ANO3	63982	broad.mit.edu	37	chr11	26558958	26558958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttctctttgcaggtatcCgtaaacttataaacaatggc	6	9	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:26558958C>T	uc001mqt.3	+	10	1127	c.982C>T	c.(982-984)CGT>TGT	p.R328C	ANO3_uc010rdr.1_Missense_Mutation_p.R312C|ANO3_uc010rds.1_Missense_Mutation_p.R167C|ANO3_uc010rdt.1_Missense_Mutation_p.R182C	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	328	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity	p.R328H(1)		ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGCAGGTATCCGTAAACTTAT	0.353													T	26558958	C	T	26558958	3	4	45	1	0	0	0	0	1	0	0	0	698	652	23	1	1020	1	ANO3	11	26558958	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	7602804	26558958	108447558	738	37094											
ABTB2	25841	broad.mit.edu	37	chr11	34218969	34218969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagtagagcgtgtggagggCgtcgggggaccaagtgatgg	21	5	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:34218969C>T	uc001mvl.1	-	3	819	c.589G>A	c.(589-591)GCC>ACC	p.A197T		NM_145804	NP_665803	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing	197							DNA binding			central_nervous_system(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GTGTGGAGGGCGTCGGGGGAC	0.647													T	34218969	C	T	34218969	3	4	45	1	0	0	0	0	1	0	0	0	103	768	27	1	1990	1	ABTB2	11	34218969	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	7660011	34218969	100787547	739	37095											
PRR5L	79899	broad.mit.edu	37	chr11	36459025	36459025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaatattttatccagttcAggttagtctcattggggaac	10	7	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:36459025A>G	uc001mwo.3	+	6	832	c.443A>G	c.(442-444)CAG>CGG	p.Q148R	PRR5L_uc001mwp.2_Missense_Mutation_p.Q148R|PRR5L_uc009ykk.2_Missense_Mutation_p.Q67R|PRR5L_uc010rfc.1_Missense_Mutation_p.Q148R	NM_001160167	NP_001153639	Q6MZQ0	PRR5L_HUMAN	protor-2 isoform a	148										ovary(1)	1						TATCCAGTTCAGGTTAGTCTC	0.512													G	36459025	A	G	36459025	3	3	45	1	0	0	0	0	1	0	0	0	12602	202	7	3	467	3	PRR5L	11	36459025	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	2240056	36459025	98547491	740	37096											
CHST1	8534	broad.mit.edu	37	chr11	45672102	45672102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcagtcgtagaggctccgCaggaggtcgcggctggcgcc	17	13	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:45672102C>T	uc001mys.1	-	4	1043	c.372G>A	c.(370-372)CTG>CTA	p.L124L		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	124	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		AGAGGCTCCGCAGGAGGTCGC	0.677													T	45672102	C	T	45672102	2	4	45	1	0	0	0	0	0	0	0	1	3397	697	25	2		2	CHST1	11	45672102	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	9213077	45672102	89334414	741	37097											
GYLTL1B	120071	broad.mit.edu	37	chr11	45949039	45949039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgaggggcccctataccCcgtcaaccagcttcgcaacg	10	17	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:45949039C>T	uc001nbv.1	+	11	1610	c.1499C>T	c.(1498-1500)CCC>CTC	p.P500L	GYLTL1B_uc001nbw.1_Missense_Mutation_p.P469L|GYLTL1B_uc001nbx.1_Missense_Mutation_p.P500L|GYLTL1B_uc001nby.1_Missense_Mutation_p.P183L|GYLTL1B_uc001nbz.1_5'Flank	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	500	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)		CCCCTATACCCCGTCAACCAG	0.597													T	45949039	C	T	45949039	3	4	45	1	0	0	0	0	1	0	0	0	6907	623	22	4	1537	4	GYLTL1B	11	45949039	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	276937	45949039	89057477	742	37098											
CHRM4	1132	broad.mit.edu	37	chr11	46406884	46406884	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtccaggtgaggatgaaGgctagcagaatggcaaagat	16	6	0	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:46406884G>T	uc001nct.1	-	1	1224	c.1224C>A	c.(1222-1224)GCC>GCA	p.A408A		NM_000741	NP_000732	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	408	Helical; Name=6; (By similarity).				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity				0				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	TGAGGATGAAGGCTAGCAGAA	0.592													T	46406884	G	T	46406884	2	4	45	1	0	0	0	0	0	0	0	1	3379	987	35	5		5	CHRM4	11	46406884	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	457845	46406884	88599632	743	37099											
SPI1	6688	broad.mit.edu	37	chr11	47399893	47399893	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaacccttccattttgcaCgcctgtaacatccagccggg	9	14	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:47399893C>T	uc001nfc.1	-	1	235	c.12G>A	c.(10-12)GCG>GCA	p.A4A	SPI1_uc001nfb.1_Silent_p.A4A|SLC39A13_uc001nfd.2_Intron|SPI1_uc009ylp.1_Translation_Start_Site	NM_003120	NP_003111	P17947	SPI1_HUMAN	hematopoietic transcription factor PU.1 isoform	4					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)	2				Lung(87;0.0967)		CCATTTTGCACGCCTGTAACA	0.677													T	47399893	C	T	47399893	2	4	45	1	0	0	0	0	0	0	0	1	15048	523	19	1		1	SPI1	11	47399893	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	993009	47399893	87606623	744	37100											
OR10AG1	282770	broad.mit.edu	37	chr11	55735092	55735092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgatatctttgttcctcAgggtatatataataggattc	7	7	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:55735092A>G	uc010rit.1	-	1	848	c.848T>C	c.(847-849)CTG>CCG	p.L283P		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG,	283	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.0137)					TTTGTTCCTCAGGGTATATAT	0.323													G	55735092	A	G	55735092	3	3	45	1	0	0	0	0	1	0	0	0	10897	188	7	3	60	3	OR10AG1	11	55735092	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	8335199	55735092	79271424	745	37101											
SSRP1	6749	broad.mit.edu	37	chr11	57099223	57099223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgagtagtagtggtaccaCgagcaaagttgacaaaggag	13	6	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:57099223C>T	uc001njt.2	-	9	1409	c.1142G>A	c.(1141-1143)CGT>CAT	p.R381H		NM_003146	NP_003137	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	381					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			ovary(2)	2						AGTGGTACCACGAGCAAAGTT	0.522													T	57099223	C	T	57099223	3	4	45	1	0	0	0	0	1	0	0	0	15193	536	19	1	1023	1	SSRP1	11	57099223	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1364131	57099223	77907293	746	37102											
SSRP1	6749	broad.mit.edu	37	chr11	57100495	57100495	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcgcacctccatgagagAcacctctgcgtcatcgtttt	9	13	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:57100495A>G	uc001njt.2	-	5	742	c.475T>C	c.(475-477)TCT>CCT	p.S159P	SSRP1_uc010rjq.1_Missense_Mutation_p.S159P	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	159					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			ovary(2)	2						TCCATGAGAGACACCTCTGCG	0.572													G	57100495	A	G	57100495	3	3	45	1	0	0	0	0	1	0	0	0	15193	275	10	3	1706	3	SSRP1	11	57100495	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	1272	57100495	77906021	747	37103											
TCN1	6947	broad.mit.edu	37	chr11	59622240	59622240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattctcacagagtaattgaCggagatatatgattgtgagt	11	4	1	5			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:59622240C>T	uc001noj.2	-	7	1104	c.1006G>A	c.(1006-1008)GTC>ATC	p.V336I		NM_001062	NP_001053	P20061	TCO1_HUMAN	transcobalamin I precursor	336					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			ovary(2)	2		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGTAATTGACGGAGATATAT	0.418													T	59622240	C	T	59622240	3	4	45	1	0	0	0	0	1	0	0	0	15703	536	19	1	307	1	TCN1	11	59622240	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2521745	59622240	75384276	748	37104											
MS4A12	54860	broad.mit.edu	37	chr11	60269478	60269478	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tattatctctggctctctctCtgtgtcagcatccaaggagc	8	12	4	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:60269478C>G	uc001npr.2	+	4	494	c.437C>G	c.(436-438)TCT>TGT	p.S146C		NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member	146	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						GGCTCTCTCTCTGTGTCAGCA	0.388													G	60269478	C	G	60269478	3	3	45	1	0	0	0	0	1	0	0	0	9856	913	32	5	447	5	MS4A12	11	60269478	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	647238	60269478	74737038	749	37105											
VWCE	220001	broad.mit.edu	37	chr11	61032017	61032017	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcggcacaggcccgctgGcagggaaccttctcacagct	14	14	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:61032017G>A	uc001nra.2	-	19	2451	c.2172C>T	c.(2170-2172)TGC>TGT	p.C724C	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	724	VWFC 6.					extracellular region	calcium ion binding			ovary(1)	1						AGGCCCGCTGGCAGGGAACCT	0.622													A	61032017	G	A	61032017	2	1	45	1	0	0	0	0	0	0	0	1	17242	1195	42	2		2	VWCE	11	61032017	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	762539	61032017	73974499	750	37106											
DDB1	1642	broad.mit.edu	37	chr11	61097046	61097046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccggtctctgaggggcggCcaatgcggtcctgagaaaca	15	11	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:61097046C>T	uc001nrc.3	-	4	564	c.338G>A	c.(337-339)GGC>GAC	p.G113D	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.G113D|DDB1_uc010rlg.1_5'Flank|DDB1_uc001nrd.2_Missense_Mutation_p.G113D|DDB1_uc009ynl.1_Intron	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	113	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						TGAGGGGCGGCCAATGCGGTC	0.502								NER					T	61097046	C	T	61097046	3	4	45	1	0	0	0	0	1	0	0	0	4323	739	26	2	3180	2	DDB1	11	61097046	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	65029	61097046	73909470	751	37107											
DAGLA	747	broad.mit.edu	37	chr11	61488196	61488196	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcggcctggtctataacccGcacgaggcctgctccctgaa	10	15	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:61488196G>A	uc001nsa.2	+	3	252	c.141G>A	c.(139-141)CCG>CCA	p.P47P		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	47	Extracellular (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		TCTATAACCCGCACGAGGCCT	0.622													A	61488196	G	A	61488196	2	1	45	1	0	0	0	0	0	0	0	1	4226	1074	38	1		1	DAGLA	11	61488196	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	391150	61488196	73518320	752	37108											
INCENP	3619	broad.mit.edu	37	chr11	61897808	61897808	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctggcccacgggactcgcCagcctttccagattctccat	8	18	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:61897808C>A	uc001nsw.1	+	4	1011	c.809C>A	c.(808-810)CCA>CAA	p.P270Q	INCENP_uc009ynv.2_Missense_Mutation_p.P270Q|INCENP_uc009ynw.1_Missense_Mutation_p.P270Q|INCENP_uc001nsx.1_Missense_Mutation_p.P270Q	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	270					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1						CGGGACTCGCCAGCCTTTCCA	0.657													A	61897808	C	A	61897808	3	1	45	1	0	0	0	0	1	0	0	0	7733	594	21	5	819	5	INCENP	11	61897808	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	409612	61897808	73108708	753	37109											
TAF6L	10629	broad.mit.edu	37	chr11	62554065	62554065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcccaggtggcagggggtGccggcgcctggacgacctgc	19	13	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:62554065G>A	uc001nvc.2	+	11	1267	c.1166G>A	c.(1165-1167)TGC>TAC	p.C389Y	TMEM179B_uc001nvd.3_5'Flank	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II	389					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			ovary(3)	3						GGCAGGGGGTGCCGGCGCCTG	0.652											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	62554065	G	A	62554065	3	1	45	1	0	0	0	0	1	0	0	0	15528	1319	46	2	1204	2	TAF6L	11	62554065	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	656257	62554065	72452451	754	37110											
NRXN2	9379	broad.mit.edu	37	chr11	64453271	64453271	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaggttgacgtagtcggcCgacttgcctgtatgcagcat	13	10	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:64453271C>T	uc001oar.2	-	7	1438	c.999G>A	c.(997-999)TCG>TCA	p.S333S	NRXN2_uc001oas.2_Silent_p.S309S|NRXN2_uc001oaq.2_Silent_p.S7S	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						CGTAGTCGGCCGACTTGCCTG	0.592													T	64453271	C	T	64453271	2	4	45	1	0	0	0	0	0	0	0	1	10666	639	23	1		1	NRXN2	11	64453271	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1899206	64453271	70553245	755	37111											
MEN1	4221	broad.mit.edu	37	chr11	64575097	64575097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggcacacaccatgaacGccacctccatcttgcggtca	8	15	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:64575097G>A	uc001obj.2	-	4	798	c.725C>T	c.(724-726)GCG>GTG	p.A242V	MEN1_uc001obk.2_Missense_Mutation_p.A242V|MEN1_uc001obl.2_Missense_Mutation_p.A202V|MEN1_uc001obm.2_Missense_Mutation_p.A237V|MEN1_uc001obn.2_Missense_Mutation_p.A242V|MEN1_uc001obo.2_Missense_Mutation_p.A242V|MEN1_uc001obp.2_Missense_Mutation_p.A237V|MEN1_uc001obq.2_Missense_Mutation_p.A242V|MEN1_uc001obr.2_Missense_Mutation_p.A242V	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	242	Interaction with FANCD2.				DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.A242_I247del(1)		parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						CACCATGAACGCCACCTCCAT	0.438			D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1				A	64575097	G	A	64575097	3	1	45	1	0	0	0	0	1	0	0	0	9472	1087	38	1	1150	1	MEN1	11	64575097	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	121826	64575097	70431419	756	37112											
ATG2A	23130	broad.mit.edu	37	chr11	64676743	64676743	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtccagagcccctacttacTggggcaggaagtacttgcgc	12	12	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:64676743T>G	uc001obx.2	-	15	2319	c.2204A>C	c.(2203-2205)CAG>CCG	p.Q735P		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	735							protein binding			ovary(1)|central_nervous_system(1)	2						CCCTACTTACTGGGGCAGGAA	0.637													G	64676743	T	G	64676743	3	3	45	1	0	0	0	0	1	0	0	0	1093	1594	55	5	3720	5	ATG2A	11	64676743	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	101646	64676743	70329773	757	37113											
KLC2	64837	broad.mit.edu	37	chr11	66033586	66033586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagtggctccttgaggcGcagcggttcctttgggaaac	15	10	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:66033586G>A	uc010rov.1	+	14	1868	c.1625G>A	c.(1624-1626)CGC>CAC	p.R542H	KLC2_uc010row.1_Missense_Mutation_p.R542H|KLC2_uc009yra.2_Intron|KLC2_uc001ohb.2_Missense_Mutation_p.R542H|KLC2_uc010rox.1_Missense_Mutation_p.R465H|KLC2_uc001ohc.2_Missense_Mutation_p.R542H|KLC2_uc001ohd.2_Missense_Mutation_p.R465H|KLC2_uc001ohe.1_Missense_Mutation_p.R403H|RAB1B_uc001ohf.2_5'Flank	NM_001134775	NP_001128247	Q9H0B6	KLC2_HUMAN	kinesin light chain 2 isoform 1	542					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0						TCCTTGAGGCGCAGCGGTTCC	0.687													A	66033586	G	A	66033586	3	1	45	1	0	0	0	0	1	0	0	0	8334	1087	38	1	1675	1	KLC2	11	66033586	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1356843	66033586	68972930	758	37114											
RIN1	9610	broad.mit.edu	37	chr11	66102472	66102472	+	Frame_Shift_Del	DEL	G	G	-													gcccctggcagcacggggacGgggggaggtggcacggcagg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:66102471_66102471CG>C	uc001ohn.1	-	5	926	c.799_799CG>G	c.(799-801)gtcfs	p.V267fs	RIN1_uc010roy.1_5'UTR|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Frame_Shift_Del_p.V162fs|RIN1_uc010rpa.1_Frame_Shift_Del_p.V162fs	NM_004292	NP_004283	Q13671	RIN1_HUMAN	Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA.	267	Pro-rich.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						AGCACGGGGACGGGGGGAGGT	0.672													-	66102472	G	-	66102472	7	5	45	1	0	1	0	1	0	0	0	0	13371	1103	39	0	1573	0	RIN1	11	66102472	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	68886	66102472	68904044	759	37115											
CCDC87	55231	broad.mit.edu	37	chr11	66359936	66359936	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccagaggcctgctctgccCtcagcagggcctggaagtcg	13	16	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:66359936C>A	uc001oiq.3	-	1	619	c.551G>T	c.(550-552)AGG>ATG	p.R184M	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	184										ovary(1)|skin(1)	2						CTGCTCTGCCCTCAGCAGGGC	0.647													A	66359936	C	A	66359936	3	1	45	1	0	0	0	0	1	0	0	0	2862	681	24	5	2002	5	CCDC87	11	66359936	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	257464	66359936	68646580	760	37116											
RBM4	5936	broad.mit.edu	37	chr11	66411194	66411194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcgctgccgtgctgcccGgtcctatgaggcagtggcag	15	13	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:66411194G>A	uc009yrj.2	+	3	1174	c.686G>A	c.(685-687)CGG>CAG	p.R229Q	RBM4_uc009yrk.2_Missense_Mutation_p.R204Q|RBM4_uc001oiw.1_Missense_Mutation_p.R229Q|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Missense_Mutation_p.R229Q|RBM4_uc001oiz.1_Missense_Mutation_p.R229Q	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	229	Interaction with TNPO3.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CGTGCTGCCCGGTCCTATGAG	0.567													A	66411194	G	A	66411194	3	1	45	1	0	0	0	0	1	0	0	0	13134	1116	39	1	692	1	RBM4	11	66411194	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	51258	66411194	68595322	761	37117											
TBC1D10C	374403	broad.mit.edu	37	chr11	67177175	67177175	+	Frame_Shift_Del	DEL	C	C	-													ggggcccccccatcgaggggCcccccaggccccaacgaggc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:67177174_67177174GC>G	uc001ola.3	+	9	1319	c.1290_1290GC>G	c.(1288-1290)gggfs	p.G430fs	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_3'UTR|TBC1D10C_uc001olb.3_Non-coding_Transcript	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA.	430	Interaction with calcineurin.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCATCGAGGGGCCCCCCAGGC	0.677													-	67177175	C	-	67177175	7	5	45	1	0	1	0	1	0	0	0	0	15597	739	26	0	1325	0	TBC1D10C	11	67177175	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	765981	67177175	67829341	762	37118											
CHKA	1119	broad.mit.edu	37	chr11	67821508	67821508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcaaaccttgcttgggCgtagtcctaggagacagcaa	12	10	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:67821508C>T	uc001onj.2	-	12	1535	c.1321G>A	c.(1321-1323)GCC>ACC	p.A441T	CHKA_uc001onk.2_Missense_Mutation_p.A423T	NM_001277	NP_001268	P35790	CHKA_HUMAN	choline kinase alpha isoform a	441					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			ovary(1)|central_nervous_system(1)	2					Choline(DB00122)	CTTGCTTGGGCGTAGTCCTAG	0.577													T	67821508	C	T	67821508	3	4	45	1	0	0	0	0	1	0	0	0	3347	768	27	1	56	1	CHKA	11	67821508	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	644333	67821508	67185008	763	37119											
NADSYN1	55191	broad.mit.edu	37	chr11	71194025	71194025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaactcctcccaggagacGtgcacccgggccagagagtt	12	13	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:71194025G>A	uc001oqn.2	+	14	1407	c.1281G>A	c.(1279-1281)ACG>ACA	p.T427T	NADSYN1_uc001oqo.2_Silent_p.T167T|NADSYN1_uc001oqp.2_Silent_p.T56T	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	427	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCCAGGAGACGTGCACCCGGG	0.592													A	71194025	G	A	71194025	2	1	45	1	0	0	0	0	0	0	0	1	10138	1132	40	1		1	NADSYN1	11	71194025	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	3372517	71194025	63812491	764	37120											
KRTAP5-7	440050	broad.mit.edu	37	chr11	71238426	71238426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgggggctgtggctctgGctgtgggggatgtggctcca	20	8	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:71238426G>A	uc001oqq.1	+	1	114	c.80G>A	c.(79-81)GGC>GAC	p.G27D		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	27						keratin filament					0						TGTGGCTCTGGCTGTGGGGGA	0.662													A	71238426	G	A	71238426	3	1	45	1	0	0	0	0	1	0	0	0	8566	1203	42	2	82	2	KRTAP5-7	11	71238426	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	44401	71238426	63768090	765	37121											
FCHSD2	9873	broad.mit.edu	37	chr11	72553749	72553749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgggaaaactccaatacGcccattgaattccccttccc	6	15	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:72553749G>A	uc009ytl.2	-	17	2064	c.1843C>T	c.(1843-1845)CGT>TGT	p.R615C	FCHSD2_uc010rrg.1_Missense_Mutation_p.R479C|FCHSD2_uc001oth.3_Missense_Mutation_p.R559C|ATG16L2_uc009ytj.1_3'UTR	NM_014824	NP_055639	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	615	SH3 2.						protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			ACTCCAATACGCCCATTGAAT	0.453													A	72553749	G	A	72553749	3	1	45	1	0	0	0	0	1	0	0	0	5790	1087	38	1	395	1	FCHSD2	11	72553749	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1315323	72553749	62452767	766	37122											
RELT	84957	broad.mit.edu	37	chr11	73106270	73106270	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccctgagcagcaggccctGctaggaagtggcggaagccg	15	14	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:73106270G>T	uc001otv.2	+	10	1350	c.1185G>T	c.(1183-1185)CTG>CTT	p.L395L	RELT_uc001otw.2_Silent_p.L395L|RELT_uc001otx.2_RNA	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor precursor	395	Cytoplasmic (Potential).					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			upper_aerodigestive_tract(1)	1						AGCAGGCCCTGCTAGGAAGTG	0.627													T	73106270	G	T	73106270	2	4	45	1	0	0	0	0	0	0	0	1	13221	1306	46	5		5	RELT	11	73106270	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	552521	73106270	61900246	767	37123											
CHRDL2	25884	broad.mit.edu	37	chr11	74421946	74421946	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggaggggaacagctcaTgggcactgaagatctctccg	16	10	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:74421946T>C	uc001ovi.2	-	4	633	c.380A>G	c.(379-381)CAT>CGT	p.H127R	CHRDL2_uc001ovg.2_Missense_Mutation_p.H11R|CHRDL2_uc001ovh.2_Missense_Mutation_p.H127R|CHRDL2_uc001ovk.1_Missense_Mutation_p.H127R			Q6WN34	CRDL2_HUMAN	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;	127	VWFC 2.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion					0	Hepatocellular(1;0.098)					GAACAGCTCATGGGCACTGAA	0.617													C	74421946	T	C	74421946	3	2	45	1	0	0	0	0	1	0	0	0	3374	1464	51	3	1011	3	CHRDL2	11	74421946	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1315676	74421946	60584570	768	37124											
XRRA1	143570	broad.mit.edu	37	chr11	74562191	74562191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taggctttactatcttccttCgaattaagtggattcccagt	7	9	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:74562191C>T	uc009yub.2	-	14	1630	c.1298G>A	c.(1297-1299)CGA>CAA	p.R433Q	XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovn.2_Missense_Mutation_p.R56Q|XRRA1_uc001ovo.2_Missense_Mutation_p.R41Q|XRRA1_uc001ovq.3_Missense_Mutation_p.R346Q|XRRA1_uc001ovp.3_Missense_Mutation_p.R158Q|XRRA1_uc001ovr.2_Missense_Mutation_p.R56Q|XRRA1_uc001ovs.1_Intron	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	433					response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1						TATCTTCCTTCGAATTAAGTG	0.473													T	74562191	C	T	74562191	3	4	45	1	0	0	0	0	1	0	0	0	17458	884	31	1	1104	1	XRRA1	11	74562191	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	140245	74562191	60444325	769	37125											
NEU3	10825	broad.mit.edu	37	chr11	74716692	74716692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagggacttgactgaggagGtcattggctcagagctgaag	16	6	2	5			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:74716692G>A	uc001ovw.2	+	3	697	c.541G>A	c.(541-543)GTC>ATC	p.V181I	NEU3_uc001ovv.2_Missense_Mutation_p.V171I|NEU3_uc010rrl.1_Missense_Mutation_p.V72I	NM_006656	NP_006647	A8K327	A8K327_HUMAN	sialidase 3	181										ovary(2)	2						GACTGAGGAGGTCATTGGCTC	0.547													A	74716692	G	A	74716692	3	1	45	1	0	0	0	0	1	0	0	0	10343	1261	44	4	551	4	NEU3	11	74716692	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	154501	74716692	60289824	770	37126											
RSF1	51773	broad.mit.edu	37	chr11	77383228	77383228	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttctccttgaccgccttcGccgagtttctacaaaatcat	5	13	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:77383228G>A	uc001oyn.2	-	15	3730	c.3610C>T	c.(3610-3612)CGA>TGA	p.R1204*	RSF1_uc001oym.2_Nonsense_Mutation_p.R952*	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1204	Arg-rich.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GACCGCCTTCGCCGAGTTTCT	0.343													A	77383228	G	A	77383228	4	1	45	1	0	0	0	0	0	1	0	0	13699	1095	38	1	723	1	RSF1	11	77383228	Nonsense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2666536	77383228	57623288	771	37127											
DLG2	1740	broad.mit.edu	37	chr11	83691553	83691553	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggagtcacactcaccattAgtagtctatctcctacttgc	6	13	4	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:83691553A>G	uc001paj.2	-	7	1040	c.737T>C	c.(736-738)CTA>CCA	p.L246P	DLG2_uc001pai.2_Missense_Mutation_p.L195P|DLG2_uc010rsy.1_Missense_Mutation_p.L213P|DLG2_uc010rsz.1_Missense_Mutation_p.L246P|DLG2_uc010rta.1_Missense_Mutation_p.L246P|DLG2_uc001pak.2_Missense_Mutation_p.L351P|DLG2_uc010rtb.1_Missense_Mutation_p.L213P|DLG2_uc001pal.1_Missense_Mutation_p.L246P|DLG2_uc001pam.1_Missense_Mutation_p.L285P	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	246	PDZ 2.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ACTCACCATTAGTAGTCTATC	0.318													G	83691553	A	G	83691553	3	3	45	1	0	0	0	0	1	0	0	0	4555	420	15	3	1993	3	DLG2	11	83691553	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	6308325	83691553	51314963	772	37128											
CCDC83	220047	broad.mit.edu	37	chr11	85593704	85593704	+	Frame_Shift_Del	DEL	A	A	-													gaagtttgaaagagaccaggAaaaaaacttgagaggtgatt							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:85593703_85593703GA>G	uc001pbg.1	+	3	840	c.328_328GA>G	c.(328-330)gaafs	p.E110fs	CCDC83_uc001pbh.1_Frame_Shift_Del_p.E110fs|CCDC83_uc001pbj.1_Frame_Shift_Del_p.E67fs|CCDC83_uc001pbi.1_Non-coding_Transcript	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA.	110								p.Q109K(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AAGAGACCAGGAAAAAAACTT	0.358													-	85593704	A	-	85593704	7	5	45	1	0	1	0	1	0	0	0	0	2857	246	9	0	339	0	CCDC83	11	85593704	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	1902151	85593704	49412812	773	37129											
NAALAD2	10003	broad.mit.edu	37	chr11	89896482	89896482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtattattttccagacagGtatgttattctgggaggtca	10	6	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:89896482G>A	uc001pdf.3	+	10	1189	c.1080G>A	c.(1078-1080)AGG>AGA	p.R360R	NAALAD2_uc009yvx.2_Silent_p.R327R|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pde.2_Silent_p.R267R	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	360	Extracellular (Potential).|NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTCCAGACAGGTATGTTATTC	0.363													A	89896482	G	A	89896482	2	1	45	1	0	0	0	0	0	0	0	1	10128	1252	44	4		4	NAALAD2	11	89896482	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	4302778	89896482	45110034	774	37130											
FAT3	120114	broad.mit.edu	37	chr11	92564790	92564790	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtctctcccacaggcAtcaataggaaggtcgtgtac	10	12	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:92564790A>G	uc001pdj.3	+	13	9501	c.9484A>G	c.(9484-9486)ATC>GTC	p.I3162V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3162	Cadherin 29.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCCACAGGCATCAATAGGAA	0.517										TCGA Ovarian(4;0.039)			G	92564790	A	G	92564790	3	3	45	1	0	0	0	0	1	0	0	0	5691	217	8	3	9534	3	FAT3	11	92564790	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	2668308	92564790	42441726	775	37131											
PIWIL4	143689	broad.mit.edu	37	chr11	94328536	94328536	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggctgaaaagacacgTctcagtccttcaggccggca	12	12	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:94328536T>C	uc001pfa.2	+	10	1423	c.1212T>C	c.(1210-1212)CGT>CGC	p.R404R	PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	404					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			skin(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAAAGACACGTCTCAGTCCTT	0.507													C	94328536	T	C	94328536	2	2	45	1	0	0	0	0	0	0	0	1	11960	1654	58	3		3	PIWIL4	11	94328536	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1763746	94328536	40677980	776	37132											
PGR	5241	broad.mit.edu	37	chr11	100909916	100909916	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtaattgtgcagcaataacTtcagacatcatttctggaaa	8	7	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:100909916T>G	uc001pgh.2	-	8	3476	c.2733A>C	c.(2731-2733)GAA>GAC	p.E911D	PGR_uc001pgg.2_Missense_Mutation_p.E292D|PGR_uc001pgi.2_Missense_Mutation_p.E809D|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	911	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CAGCAATAACTTCAGACATCA	0.363													G	100909916	T	G	100909916	3	3	45	1	0	0	0	0	1	0	0	0	11805	1606	56	5	72	5	PGR	11	100909916	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	6581380	100909916	34096600	777	37133											
TRPC6	7225	broad.mit.edu	37	chr11	101375456	101375456	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaacatgtatgctggtcctcGattagctaaccttctcccct	6	13	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:101375456G>A	uc001pgk.3	-	2	669	c.244C>T	c.(244-246)CGA>TGA	p.R82*	TRPC6_uc009ywy.2_Nonsense_Mutation_p.R82*|TRPC6_uc009ywz.1_Nonsense_Mutation_p.R82*	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	82	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GCTGGTCCTCGATTAGCTAAC	0.493													A	101375456	G	A	101375456	4	1	45	1	0	0	0	0	0	1	0	0	16580	1066	37	1	2599	1	TRPC6	11	101375456	Nonsense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	465540	101375456	33631060	778	37134											
ANGPTL5	253935	broad.mit.edu	37	chr11	101762047	101762047	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtacattcttctaattttcAttgaaacagatttaatcttg	4	6	4	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:101762047A>G	uc001pgl.2	-	9	1726	c.1130T>C	c.(1129-1131)ATG>ACG	p.M377T		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5 precursor	377	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TCTAATTTTCATTGAAACAGA	0.294													G	101762047	A	G	101762047	3	3	45	1	0	0	0	0	1	0	0	0	617	217	8	3	40	3	ANGPTL5	11	101762047	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	386591	101762047	33244469	779	37135											
SIK2	23235	broad.mit.edu	37	chr11	111594498	111594498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctccacttccggtccccGggctgctcctcctctgccca	8	22	1	0	rs34223841	byFrequency	TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:111594498G>A	uc001plt.2	+	15	2544	c.2426G>A	c.(2425-2427)CGG>CAG	p.R809Q		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	809					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						TCCGGTCCCCGGGCTGCTCCT	0.522													A	111594498	G	A	111594498	3	1	45	1	0	0	0	0	1	0	0	0	14318	1116	39	1	2484	1	SIK2	11	111594498	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	9832451	111594498	23412018	780	37136											
DIXDC1	85458	broad.mit.edu	37	chr11	111866267	111866267	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctgcatgttatggagacGcagaagaaacaagaaagaaa	11	7	0	5			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:111866267G>A	uc001pml.2	+	17	1965	c.1668G>A	c.(1666-1668)ACG>ACA	p.T556T	DIXDC1_uc001pmm.2_Silent_p.T345T|DIXDC1_uc001pmn.2_Silent_p.T262T|DIXDC1_uc010rwq.1_Silent_p.T221T	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	556					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			ovary(1)	1		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		TTATGGAGACGCAGAAGAAAC	0.478													A	111866267	G	A	111866267	2	1	45	1	0	0	0	0	0	0	0	1	4541	1074	38	1		1	DIXDC1	11	111866267	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	271769	111866267	23140249	781	37137											
HTR3A	3359	broad.mit.edu	37	chr11	113857293	113857293	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcagcctgctactgcccagCatcttcctcatggtcatgga	9	14	4	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:113857293C>A	uc010rxb.1	+	7	1010	c.777C>A	c.(775-777)AGC>AGA	p.S259R	HTR3A_uc010rxa.1_Missense_Mutation_p.S259R|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.S238R	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	253	Helical; Name=1; (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TACTGCCCAGCATCTTCCTCA	0.597													A	113857293	C	A	113857293	3	1	45	1	0	0	0	0	1	0	0	0	7444	709	25	5	829	5	HTR3A	11	113857293	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1991026	113857293	21149223	782	37138											
CEP164	22897	broad.mit.edu	37	chr11	117280458	117280458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaccctcagtcgccgccGccgctcctcgcctccatgcc	7	23	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:117280458G>A	uc001prc.2	+	30	4020	c.3873G>A	c.(3871-3873)CCG>CCA	p.P1291P	CEP164_uc001prb.2_Silent_p.P1286P|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Silent_p.P716P	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1291					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGTCGCCGCCGCCGCTCCTCG	0.662													A	117280458	G	A	117280458	2	1	45	1	0	0	0	0	0	0	0	1	3249	1074	38	1		1	CEP164	11	117280458	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	3423165	117280458	17726058	783	37139											
TMPRSS4	56649	broad.mit.edu	37	chr11	117983990	117983990	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctctacccccaggaaacaTaccgatgtgttcaactggaa	8	12	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:117983990T>C	uc010rxo.1	+	9	1041	c.750T>C	c.(748-750)CAT>CAC	p.H250H	TMPRSS4_uc010rxp.1_Silent_p.H245H|TMPRSS4_uc010rxq.1_Silent_p.H103H|TMPRSS4_uc010rxr.1_Silent_p.H225H|TMPRSS4_uc010rxs.1_Silent_p.H210H|TMPRSS4_uc009yzu.2_RNA|TMPRSS4_uc010rxt.1_Silent_p.H225H	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4 isoform 1	250	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CCAGGAAACATACCGATGTGT	0.577													C	117983990	T	C	117983990	2	2	45	1	0	0	0	0	0	0	0	1	16246	1403	49	3		3	TMPRSS4	11	117983990	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	703532	117983990	17022526	784	37140											
MLL	4297	broad.mit.edu	37	chr11	118373724	118373724	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggccctctccttcccacacCtccatttgagagggcaaagg	9	15	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:118373724C>A	uc001pta.2	+	27	7131	c.7108C>A	c.(7108-7110)CTC>ATC	p.L2370I	MLL_uc001ptb.2_Missense_Mutation_p.L2373I	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2370					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CTTCCCACACCTCCATTTGAG	0.438			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								A	118373724	C	A	118373724	3	1	45	1	0	0	0	0	1	0	0	0	9620	681	24	5	7214	5	MLL	11	118373724	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	389734	118373724	16632792	785	37141											
DDX6	1656	broad.mit.edu	37	chr11	118629614	118629614	+	Splice_Site	DEL	G	G	-													tttctgcaaatgggaattctGgggggggagcgggaaaaaga							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:118629613_118629613TG>T	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAG	0.423			T	IGH@	B-NHL								-	118629614	G	-	118629614	8	5	45	1	0	1	0	1	0	0	1	0	4377	1363	47	0		0	DDX6	11	118629614	Splice_Site	DEL	G	TCGA-BR-6852-01A-11D-1882-08	255890	118629614	16376902	786	37142											
HYOU1	10525	broad.mit.edu	37	chr11	118919524	118919524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accattcgccgcttcctggcGggcttctgcttcttctctcc	8	17	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:118919524G>A	uc001puu.2	-	18	2260	c.2067C>T	c.(2065-2067)CCC>CCT	p.P689P	HYOU1_uc001put.2_Silent_p.P654P|HYOU1_uc010ryu.1_Silent_p.P647P|HYOU1_uc010ryv.1_Silent_p.P578P|HYOU1_uc001pux.3_Silent_p.P689P|HYOU1_uc010ryw.1_RNA	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	689						endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GCTTCCTGGCGGGCTTCTGCT	0.607													A	118919524	G	A	118919524	2	1	45	1	0	0	0	0	0	0	0	1	7470	1103	39	1		1	HYOU1	11	118919524	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	289910	118919524	16086992	787	37143											
C2CD2L	9854	broad.mit.edu	37	chr11	118983195	118983195	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccatccctttccccagccgAactcctaggccaggccacac	7	20	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:118983195A>G	uc001pvo.2	+	9	1447	c.1088A>G	c.(1087-1089)GAA>GGA	p.E363G	C2CD2L_uc001pvn.2_Missense_Mutation_p.E363G	NM_014807	NP_055622	O14523	C2C2L_HUMAN	transmembrane protein 24	363						integral to membrane					0						TCCCCAGCCGAACTCCTAGGC	0.652													G	118983195	A	G	118983195	3	3	45	1	0	0	0	0	1	0	0	0	2153	246	9	3	1122	3	C2CD2L	11	118983195	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	63671	118983195	16023321	788	37144											
PVRL1	5818	broad.mit.edu	37	chr11	119535676	119535676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcgctcgccccctccaccGccctcctcctcctcctcctc	4	26	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:119535676G>A	uc001pwv.2	-	6	1507	c.1335C>T	c.(1333-1335)GGC>GGT	p.G445G	PVRL1_uc001pwu.1_Intron	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 isoform 1	445	Poly-Gly.|Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCCCTCCACCGCcctcctcct	0.582													A	119535676	G	A	119535676	2	1	45	1	0	0	0	0	0	0	0	1	12839	1074	38	1		1	PVRL1	11	119535676	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	552481	119535676	15470840	789	37145											
PVRL1	5818	broad.mit.edu	37	chr11	119549297	119549297	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagggagccagcacggacacGcccatggatgggttgtagat	15	9	0	1	rs150914244		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:119549297G>A	uc001pwv.2	-	2	430	c.258C>T	c.(256-258)GGC>GGT	p.G86G	PVRL1_uc001pwu.1_Silent_p.G86G|PVRL1_uc001pww.2_Silent_p.G86G	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 isoform 1	86	Extracellular (Potential).|Ig-like V-type.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GCACGGACACGCCCATGGATG	0.617													A	119549297	G	A	119549297	2	1	45	1	0	0	0	0	0	0	0	1	12839	1074	38	1		1	PVRL1	11	119549297	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	13621	119549297	15457219	790	37146											
OR6M1	390261	broad.mit.edu	37	chr11	123676666	123676666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctgttcatgatgaccGtgtagtgcagtgggtcgcag	14	10	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:123676666G>A	uc010rzz.1	-	1	392	c.392C>T	c.(391-393)ACG>ATG	p.T131M		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CATGATGACCGTGTAGTGCAG	0.517													A	123676666	G	A	123676666	3	1	45	1	0	0	0	0	1	0	0	0	11205	1145	40	1	552	1	OR6M1	11	123676666	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	4127369	123676666	11329850	791	37147											
OR8B8	26493	broad.mit.edu	37	chr11	124310482	124310482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggttattggcacagaagGtcacacccatcatgcacgct	9	12	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:124310482G>A	uc010sal.1	-	1	500	c.500C>T	c.(499-501)ACC>ATC	p.T167I		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGCACAGAAGGTCACACCCAT	0.512													A	124310482	G	A	124310482	3	1	45	1	0	0	0	0	1	0	0	0	11230	1261	44	4	438	4	OR8B8	11	124310482	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	633816	124310482	10696034	792	37148											
SRPR	6734	broad.mit.edu	37	chr11	126136758	126136758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactccgttctcaggacccaCtggaagacctgacttttctg	8	13	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:126136758C>T	uc001qdh.2	-	5	637	c.586G>A	c.(586-588)GTG>ATG	p.V196M	SRPR_uc010sbm.1_Missense_Mutation_p.V168M|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	196					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TCAGGACCCACTGGAAGACCT	0.493													T	126136758	C	T	126136758	3	4	45	1	0	0	0	0	1	0	0	0	15161	565	20	4	1370	4	SRPR	11	126136758	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1826276	126136758	8869758	793	37149											
KIRREL3	84623	broad.mit.edu	37	chr11	126314938	126314938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccacagcccggcacacGtacttgcccgcgtcctcctg	10	19	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:126314938G>A	uc001qea.2	-	10	1549	c.1188C>T	c.(1186-1188)TAC>TAT	p.Y396Y	KIRREL3_uc001qeb.2_Silent_p.Y396Y|KIRREL3_uc001qec.1_Silent_p.Y396Y	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	396	Extracellular (Potential).|Ig-like C2-type 4.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CCCGGCACACGTACTTGCCCG	0.637													A	126314938	G	A	126314938	2	1	45	1	0	0	0	0	0	0	0	1	8326	1140	40	1		1	KIRREL3	11	126314938	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	178180	126314938	8691578	794	37150											
NFRKB	4798	broad.mit.edu	37	chr11	129739602	129739602	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttggcgtgggttgcaacGgtgatggtctggcctgcttt	16	8	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr11:129739602G>A	uc001qfi.2	-	24	3519	c.3318C>T	c.(3316-3318)ACC>ACT	p.T1106T	NFRKB_uc001qfg.2_Silent_p.T1131T|NFRKB_uc001qfh.2_Silent_p.T1129T|NFRKB_uc010sbw.1_Silent_p.T1116T|NFRKB_uc009zcr.2_Silent_p.T392T	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1106					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GGGTTGCAACGGTGATGGTCT	0.577													A	129739602	G	A	129739602	2	1	45	1	0	0	0	0	0	0	0	1	10384	1103	39	1		1	NFRKB	11	129739602	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	3424664	129739602	5266914	795	37151											
FGF6	2251	broad.mit.edu	37	chr12	4554633	4554633	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgcaggcgagggcaccAccatgcccactaggatgcct	12	15	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:4554633A>G	uc001qmr.1	-	1	148	c.104T>C	c.(103-105)GTG>GCG	p.V35A		NM_020996	NP_066276	P10767	FGF6_HUMAN	fibroblast growth factor 6 precursor	35					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			lung(2)|ovary(1)	3			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CGAGGGCACCACCATGCCCAC	0.657													G	4554633	A	G	4554633	3	3	45	1	0	0	0	0	1	0	0	0	5856	159	6	3	534	3	FGF6	12	4554633	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08		4554633	129297262	796	37152											
KCNA6	3742	broad.mit.edu	37	chr12	4919970	4919970	+	Frame_Shift_Del	DEL	G	G	-													cctcctcactcagtactcttGggggctccttctttacagac							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:4919969_4919969TG>T	uc001qng.3	+	0	1628	c.762_762TG>T	c.(760-762)cttfs	p.L254fs	KCNA6_uc021qtr.1_Frame_Shift_Del_p.L254fs	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	254						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TCAGTACTCTTGGGGGCTCCT	0.557										HNSCC(72;0.22)			-	4919970	G	-	4919970	7	5	45	1	0	1	0	1	0	0	0	0	8007	1348	47	0	765	0	KCNA6	12	4919970	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	365337	4919970	128931925	797	37153											
PLEKHG6	55200	broad.mit.edu	37	chr12	6435695	6435695	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtcccccagcaccaggccCtccacgccttccctggaggg	11	19	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:6435695C>A	uc001qnr.2	+	14	1774	c.1626C>A	c.(1624-1626)CCC>CCA	p.P542P	PLEKHG6_uc010sew.1_Silent_p.P542P|PLEKHG6_uc010sex.1_Silent_p.P510P	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain-containing family G	542					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|skin(1)	2						GCACCAGGCCCTCCACGCCTT	0.627													A	6435695	C	A	6435695	2	1	45	1	0	0	0	0	0	0	0	1	12074	668	24	5		5	PLEKHG6	12	6435695	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1515725	6435695	127416200	798	37154											
NCAPD2	9918	broad.mit.edu	37	chr12	6637928	6637928	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggacatggtgaaggtgaAggggcaggtcagcgagatgg	19	5	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:6637928A>G	uc001qoo.2	+	26	3429	c.3383A>G	c.(3382-3384)AAG>AGG	p.K1128R	NCAPD2_uc010sfd.1_Missense_Mutation_p.K1083R	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1128					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						GTGAAGGTGAAGGGGCAGGTC	0.582													G	6637928	A	G	6637928	3	3	45	1	0	0	0	0	1	0	0	0	10205	72	3	3	3481	3	NCAPD2	12	6637928	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	202233	6637928	127213967	799	37155											
ZNF384	171017	broad.mit.edu	37	chr12	6781678	6781678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggggcttgatggtctccGtgtgcatcttggagtggatc	16	7	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:6781678G>A	uc010sfh.1	-	8	1140	c.932C>T	c.(931-933)ACG>ATG	p.T311M	ZNF384_uc001qpz.2_Intron|ZNF384_uc001qqa.2_Intron|ZNF384_uc001qqb.2_Intron|ZNF384_uc001qqc.2_Intron|ZNF384_uc001qqd.2_Intron|ZNF384_uc001qqe.2_Intron	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	nuclear matrix transcription factor 4 isoform d	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8						GATGGTCTCCGTGTGCATCTT	0.627			T	EWSR1|TAF15 	ALL								A	6781678	G	A	6781678	3	1	45	1	0	0	0	0	1	0	0	0	17872	1145	40	1	817	1	ZNF384	12	6781678	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	143750	6781678	127070217	800	37156											
PEX5	5830	broad.mit.edu	37	chr12	7361095	7361095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccagacagcactgatggcGctggctgtgagcttcaccaa	11	12	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:7361095G>A	uc009zfu.1	+	14	1804	c.1224G>A	c.(1222-1224)GCG>GCA	p.A408A	PEX5_uc001qsw.2_Silent_p.A408A|PEX5_uc010sgc.1_Silent_p.A423A|PEX5_uc001qsu.2_Silent_p.A371A|PEX5_uc010sgd.1_Silent_p.A429A|PEX5_uc001qsv.2_Silent_p.A400A	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5 isoform d	408	TPR 3.				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			ovary(1)	1						CACTGATGGCGCTGGCTGTGA	0.552													A	7361095	G	A	7361095	2	1	45	1	0	0	0	0	0	0	0	1	11748	1074	38	1		1	PEX5	12	7361095	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	579417	7361095	126490800	801	37157											
GUCY2C	2984	broad.mit.edu	37	chr12	14796578	14796578	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accattctactgtccactacGcagttggtagatttcagacg	8	11	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:14796578G>A	uc001rcd.2	-	17	1997	c.1860C>T	c.(1858-1860)TGC>TGT	p.C620C		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	620	Cytoplasmic (Potential).|Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6						TGTCCACTACGCAGTTGGTAG	0.383													A	14796578	G	A	14796578	2	1	45	1	0	0	0	0	0	0	0	1	6896	1079	38	1		1	GUCY2C	12	14796578	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	7435483	14796578	119055317	802	37158											
RERG	85004	broad.mit.edu	37	chr12	15262151	15262151	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctccggcgacgcacctctcGacacaattcatagaatatct	6	15	3	1	rs141738265		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:15262151G>A	uc001rcs.2	-	4	633	c.493C>T	c.(493-495)CGA>TGA	p.R165*	RERG_uc001rct.2_Nonsense_Mutation_p.R165*|RERG_uc010shu.1_Nonsense_Mutation_p.R146*	NM_032918	NP_116307	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	165					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			lung(1)	1						CGCACCTCTCGACACAATTCA	0.522													A	15262151	G	A	15262151	4	1	45	1	0	0	0	0	0	1	0	0	13232	1066	37	1	110	1	RERG	12	15262151	Nonsense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	465573	15262151	118589744	803	37159											
GOLT1B	51026	broad.mit.edu	37	chr12	21661406	21661406	+	Frame_Shift_Del	DEL	T	T	-													cataaaatgaaagctacaggTttttttctgggtggtgtatt							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:21661405_21661405GT>G	uc001rez.2	+	2	365	c.206_206GT>G	c.(205-207)ggtfs	p.G69fs	GOLT1B_uc009zis.2_Non-coding_Transcript|GOLT1B_uc009zit.2_Non-coding_Transcript|GOLT1B_uc009ziu.2_Intron	NM_016072	NP_057156	Q9Y3E0	GOT1B_HUMAN	Homo sapiens golgi transport 1B (GOLT1B), mRNA.	69	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum|integral to membrane	signal transducer activity			large_intestine(2)|lung(3)	5						AAAGCTACAGGTTTTTTTCTG	0.343													-	21661406	T	-	21661406	7	5	45	1	0	1	0	1	0	0	0	0	6571	1712	60	0	217	0	GOLT1B	12	21661406	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	6399255	21661406	112190489	804	37160											
ST8SIA1	6489	broad.mit.edu	37	chr12	22408252	22408252	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatctatttgacggccacaGccactcttcttcagaatccc	5	15	5	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:22408252G>A	uc001rfo.3	-	3	935	c.453C>T	c.(451-453)GGC>GGT	p.G151G	ST8SIA1_uc009zix.2_Intron	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	alpha-2,8-sialyltransferase 1	151	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(3)	3						GACGGCCACAGCCACTCTTCT	0.522													A	22408252	G	A	22408252	2	1	45	1	0	0	0	0	0	0	0	1	15230	958	34	2		2	ST8SIA1	12	22408252	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	746846	22408252	111443643	805	37161											
SOX5	6660	broad.mit.edu	37	chr12	23689491	23689491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggcaggtgcgctttggCctgggcttgtacttatagtc	13	10	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:23689491C>T	uc001rfw.2	-	14	1986	c.1884G>A	c.(1882-1884)AGG>AGA	p.R628R	SOX5_uc001rfx.2_Silent_p.R615R|SOX5_uc001rfy.2_Silent_p.R507R|SOX5_uc001rfv.2_Silent_p.R242R|SOX5_uc010siv.1_Silent_p.R615R|SOX5_uc010siw.1_RNA	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	628					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						TGCGCTTTGGCCTGGGCTTGT	0.512													T	23689491	C	T	23689491	2	4	45	1	0	0	0	0	0	0	0	1	14954	738	26	2		2	SOX5	12	23689491	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1281239	23689491	110162404	806	37162											
SLC2A13	114134	broad.mit.edu	37	chr12	40158332	40158332	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acattgaaaatccagtttatTccagatgaacatgcatttcc	5	9	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:40158332T>A	uc010skm.1	-	9	1701	c.1650A>T	c.(1648-1650)GGA>GGT	p.G550G	C12orf40_uc009zjv.1_Intron	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose	550	Helical; Name=11; (Potential).					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)				TCCAGTTTATTCCAGATGAAC	0.338										HNSCC(50;0.14)			A	40158332	T	A	40158332	2	1	45	1	0	0	0	0	0	0	0	1	14542	1770	62	5		5	SLC2A13	12	40158332	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	16468841	40158332	93693563	807	37163											
LRRK2	120892	broad.mit.edu	37	chr12	40631824	40631824	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgatattttcatgttaattTttgatgccatgcactcattt	6	6	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:40631824T>G	uc001rmg.3	+	5	611	c.490T>G	c.(490-492)TTT>GTT	p.F164V		NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	164					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CATGTTAATTTTTGATGCCAT	0.333													G	40631824	T	G	40631824	3	3	45	1	0	0	0	0	1	0	0	0	9033	1841	64	5	508	5	LRRK2	12	40631824	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	473492	40631824	93220071	808	37164											
ADAMTS20	80070	broad.mit.edu	37	chr12	43770328	43770328	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgaagtctactacttacaGtcattggcataacatttctt	5	8	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:43770328G>A	uc010skx.1	-	33	5124	c.5124C>T	c.(5122-5124)GAC>GAT	p.D1708D		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1708	TSP type-1 15.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTACTTACAGTCATTGGCAT	0.323													A	43770328	G	A	43770328	2	1	45	1	0	0	0	0	0	0	0	1	266	1043	36	4		4	ADAMTS20	12	43770328	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	3138504	43770328	90081567	809	37165											
NELL2	4753	broad.mit.edu	37	chr12	45004675	45004675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatagcccggcttgcaaacaCagttgtgtcctccaacagtg	9	12	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:45004675C>T	uc001rog.2	-	14	2118	c.1523G>A	c.(1522-1524)TGT>TAT	p.C508Y	NELL2_uc001rof.3_Missense_Mutation_p.C507Y|NELL2_uc001roh.2_Missense_Mutation_p.C508Y|NELL2_uc009zkd.2_Missense_Mutation_p.C507Y|NELL2_uc010skz.1_Missense_Mutation_p.C558Y|NELL2_uc010sla.1_Missense_Mutation_p.C531Y|NELL2_uc001roi.1_Missense_Mutation_p.C508Y|NELL2_uc010slb.1_Missense_Mutation_p.C507Y	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	508	EGF-like 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CTTGCAAACACAGTTGTGTCC	0.363													T	45004675	C	T	45004675	3	4	45	1	0	0	0	0	1	0	0	0	10334	478	17	4	955	4	NELL2	12	45004675	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1234347	45004675	88847220	810	37166											
ARID2	196528	broad.mit.edu	37	chr12	46245449	46245449	+	Frame_Shift_Del	DEL	T	T	-													acagttgtgccaaatacgagTtttgcacctgcaactgtgag							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:46245448_46245448GT>G	uc001ros.1	+	14	3542	c.3542_3542GT>G	c.(3541-3543)agtfs	p.S1181fs	ARID2_uc001ror.3_Frame_Shift_Del_p.S1181fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.S637fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.S808fs|ARID2_uc001rou.1_Frame_Shift_Del_p.S515fs	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1181					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCAAATACGAGTTTTGCACCT	0.473			"N, S, F"		hepatocellular carcinoma								-	46245449	T	-	46245449	7	5	45	1	0	1	0	1	0	0	0	0	915	1722	60	0	3601	0	ARID2	12	46245449	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	1240774	46245449	87606446	811	37167											
WNT1	7471	broad.mit.edu	37	chr12	49374314	49374314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcctgcacgtgtgactacCggcggcgcggccccgggggc	16	15	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:49374314C>T	uc001rsu.2	+	3	664	c.466C>T	c.(466-468)CGG>TGG	p.R156W		NM_005430	NP_005421	P04628	WNT1_HUMAN	wingless-type MMTV integration site family,	156					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			kidney(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.244)		GTGTGACTAccggcggcgcgg	0.537													T	49374314	C	T	49374314	3	4	45	1	0	0	0	0	1	0	0	0	17378	643	23	1	476	1	WNT1	12	49374314	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3128865	49374314	84477581	812	37168											
FAM186B	84070	broad.mit.edu	37	chr12	49997058	49997058	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcaatgagggacagcgGtaacactttctccgtcactt	12	10	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:49997058G>C	uc001ruo.2	-	3	588	c.415C>G	c.(415-417)CCG>GCG	p.P139A	FAM186B_uc010smk.1_Missense_Mutation_p.P49A	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	hypothetical protein LOC84070	139						protein complex				ovary(1)	1						AGGGACAGCGGTAACACTTTC	0.498													C	49997058	G	C	49997058	3	2	45	1	0	0	0	0	1	0	0	0	5512	1261	44	5	2286	5	FAM186B	12	49997058	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	622744	49997058	83854837	813	37169											
LIMA1	51474	broad.mit.edu	37	chr12	50571305	50571305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctgataggtggggacaCagtttttgggctcttgacag	13	7	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:50571305C>T	uc001rwj.3	-	11	1996	c.1822G>A	c.(1822-1824)GTG>ATG	p.V608M	LIMA1_uc001rwg.3_Missense_Mutation_p.V306M|LIMA1_uc001rwh.3_Missense_Mutation_p.V447M|LIMA1_uc001rwi.3_Missense_Mutation_p.V449M|LIMA1_uc001rwk.3_Missense_Mutation_p.V609M|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1 isoform b	608					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			ovary(1)	1						GGTGGGGACACAGTTTTTGGG	0.483													T	50571305	C	T	50571305	3	4	45	1	0	0	0	0	1	0	0	0	8796	478	17	4	461	4	LIMA1	12	50571305	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	574247	50571305	83280590	814	37170											
DIP2B	57609	broad.mit.edu	37	chr12	51138372	51138372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcattgaaatttcagtgCcgtgttcacatggaccaact	8	9	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:51138372C>T	uc001rwv.2	+	38	4637	c.4481C>T	c.(4480-4482)GCC>GTC	p.A1494V	DIP2B_uc009zlt.2_Missense_Mutation_p.A924V	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	1494						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						AATTTCAGTGCCGTGTTCACA	0.468													T	51138372	C	T	51138372	3	4	45	1	0	0	0	0	1	0	0	0	4528	739	26	2	4631	2	DIP2B	12	51138372	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	567067	51138372	82713523	815	37171											
KRT75	9119	broad.mit.edu	37	chr12	52827889	52827889	+	Frame_Shift_Del	DEL	C	C	-													tgatggagacccgcttggcaCcccccaggttgtagaggctg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:52827888_52827888AC>A	uc001saj.2	-	0	223	c.201_201GT>T	c.(199-201)ggtfs	p.G67fs		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	67	Gly-rich.|Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CCCGCTTGGCACCCCCCAGGT	0.622													-	52827889	C	-	52827889	7	5	45	1	0	1	0	1	0	0	0	0	8488	507	18	0	1491	0	KRT75	12	52827889	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	1689517	52827889	81024006	816	37172											
KRT73	319101	broad.mit.edu	37	chr12	53012094	53012094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcccggccccggccaaatCcatagcctcctgcccaccca	8	21	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:53012094C>T	uc001sas.2	-	1	250	c.215G>A	c.(214-216)GGA>GAA	p.G72E		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	72	Head.|Gly-rich.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCGGCCAAATCCATAGCCTCC	0.642													T	53012094	C	T	53012094	3	4	45	1	0	0	0	0	1	0	0	0	8486	855	30	4	1443	4	KRT73	12	53012094	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	184205	53012094	80839801	817	37173											
TENC1	23371	broad.mit.edu	37	chr12	53451888	53451888	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaaggcgatgtcatggTgaggggggtcctgtcaacaa	14	9	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:53451888T>C	uc001sbp.2	+	14	1230	c.1095_splice	c.e14+2	p.M365_splice	TENC1_uc001sbl.2_Splice_Site_p.M241_splice|TENC1_uc001sbn.2_Splice_Site_p.M375_splice|TENC1_uc001sbo.1_Splice_Site_p.M365_splice|TENC1_uc001sbq.2_5'Flank|TENC1_uc001sbr.2_5'Flank|TENC1_uc009zmr.2_5'Flank	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase						intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2						GATGTCATGGTGAGGGGGGTC	0.577													C	53451888	T	C	53451888	5	2	45	1	0	0	0	0	0	0	1	0	15755	1710	59	3	1260	3	TENC1	12	53451888	Splice_Site	SNP	T	TCGA-BR-6852-01A-11D-1882-08	439794	53451888	80400007	818	37174											
SOAT2	8435	broad.mit.edu	37	chr12	53515103	53515103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggactggtggaactcaaCgtccttctccaactactacc	7	15	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:53515103C>T	uc001sbv.2	+	12	1242	c.1154C>T	c.(1153-1155)ACG>ATG	p.T385M	SOAT2_uc009zms.2_RNA	NM_003578	NP_003569	O75908	SOAT2_HUMAN	acyl-CoA:cholesterol acyltransferase 2	385					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			ovary(1)	1						TGGAACTCAACGTCCTTCTCC	0.597													T	53515103	C	T	53515103	3	4	45	1	0	0	0	0	1	0	0	0	14911	536	19	1	1200	1	SOAT2	12	53515103	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	63215	53515103	80336792	819	37175											
SP7	121340	broad.mit.edu	37	chr12	53722075	53722076	+	Frame_Shift_Ins	INS	-	-	G													ctccttggggccactgggagINSggggacccgggcctggttct							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:53722074_53722075A>AG	uc001sct.3	-	1	1258_1259	c.1151_1152T>CT	c.(1150-1152)cctfs	p.P384fs	SP7_uc001scv.3_Frame_Shift_Ins_p.P384fs|SP7_uc001scu.3_Frame_Shift_Ins_p.P366fs	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GGCCACTGGGAGGGGGACCCGG	0.658											OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	53722076	-	G	53722075	7	5	45	1	0	1	1	0	0	0	0	0	14969	1000	35	0	148	0	SP7	12	53722075	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	206972	53722075	80129820	820	37176											
AMHR2	269	broad.mit.edu	37	chr12	53824050	53824050	+	Frame_Shift_Del	DEL	G	G	-													tccctacatcccatccacctGgcgctgctttgccacagtaa							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:53824049_53824049TG>T	uc001scx.2	+	9	1488	c.1408_1408TG>T	c.(1408-1410)tggfs	p.W470fs	AMHR2_uc009zmy.2_Frame_Shift_Del_p.P468fs|AMHR2_uc021qyg.1_Intron	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	470	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CCCATCCACCTGGCGCTGCTT	0.597													-	53824050	G	-	53824050	7	5	45	1	0	1	0	1	0	0	0	0	573	1357	47	0	1447	0	AMHR2	12	53824050	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	101975	53824050	80027845	821	37177											
ZNF385A	25946	broad.mit.edu	37	chr12	54765373	54765373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccccaggcaaggaagccGgggctggagtccccccttca	12	16	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:54765373G>A	uc001sfw.1	-	4	671	c.488C>T	c.(487-489)CCG>CTG	p.P163L	ZNF385A_uc001sfv.1_Missense_Mutation_p.P144L|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Intron|ZNF385A_uc001sfx.1_Missense_Mutation_p.P163L|ZNF385A_uc001sfy.3_Missense_Mutation_p.P183L|ZNF385A_uc001sfz.3_Intron	NM_015481	NP_056296	Q96PM9	Z385A_HUMAN	zinc finger protein 385A isoform c	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1						CAAGGAAGCCGGGGCTGGAGT	0.622													A	54765373	G	A	54765373	3	1	45	1	0	0	0	0	1	0	0	0	17873	1116	39	1	628	1	ZNF385A	12	54765373	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	941323	54765373	79086522	822	37178											
NCKAP1L	3071	broad.mit.edu	37	chr12	54911335	54911335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctctttttgctttcatgGccctgtccttcattcgtgat	8	11	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:54911335G>A	uc001sgc.3	+	12	1193	c.1114G>A	c.(1114-1116)GCC>ACC	p.A372T	NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.A322T	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	372					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						TGCTTTCATGGCCCTGTCCTT	0.423													A	54911335	G	A	54911335	3	1	45	1	0	0	0	0	1	0	0	0	10222	1203	42	2	1160	2	NCKAP1L	12	54911335	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	145962	54911335	78940560	823	37179											
KIAA0748	9840	broad.mit.edu	37	chr12	55360194	55360194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaagagtttgccattggCggccagtagtgtggctggac	17	7	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:55360194C>T	uc001sgn.3	-	6	435	c.325G>A	c.(325-327)GCC>ACC	p.A109T	KIAA0748_uc001sgl.3_5'UTR|KIAA0748_uc001sgm.3_5'UTR|KIAA0748_uc010spb.1_5'UTR|KIAA0748_uc010spc.1_5'UTR|KIAA0748_uc010spd.1_Missense_Mutation_p.A109T|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	109										ovary(1)|central_nervous_system(1)	2						TTGCCATTGGCGGCCAGTAGT	0.323													T	55360194	C	T	55360194	3	4	45	1	0	0	0	0	1	0	0	0	8190	768	27	1	1260	1	KIAA0748	12	55360194	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	448859	55360194	78491701	824	37180											
OR9K2	441639	broad.mit.edu	37	chr12	55523916	55523916	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctatctcctttgcaggcTgtgtggcccagctctttctc	9	13	4	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:55523916T>C	uc010spe.1	+	1	364	c.364T>C	c.(364-366)TGT>CGT	p.C122R		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K,	122	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2						CTTTGCAGGCTGTGTGGCCCA	0.468													C	55523916	T	C	55523916	3	2	45	1	0	0	0	0	1	0	0	0	11254	1580	55	3	366	3	OR9K2	12	55523916	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	163722	55523916	78327979	825	37181											
OR6C4	341418	broad.mit.edu	37	chr12	55945174	55945174	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actagacccccacctccagaCccccatgtatttcttcctcc	3	20	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:55945174C>G	uc010spp.1	+	1	164	c.164C>G	c.(163-165)ACC>AGC	p.T55S		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C,	55	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CACCTCCAGACCCCCATGTAT	0.408													G	55945174	C	G	55945174	3	3	45	1	0	0	0	0	1	0	0	0	11193	507	18	5	166	5	OR6C4	12	55945174	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	421258	55945174	77906721	826	37182											
OR6C4	341418	broad.mit.edu	37	chr12	55945454	55945455	+	Frame_Shift_Ins	INS	-	-	G													tagtgttctgctcctggttgINSgggggattcctagcaatctt							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:55945453_55945454T>TG	uc010spp.2	+	0	443_444	c.443_444T>TG	c.(442-444)ttgfs	p.L148fs		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TGCTCCTGGTTGGGGGGATTCC	0.455													G	55945455	-	G	55945454	7	5	45	1	0	1	1	0	0	0	0	0	11193	1339	47	0	446	0	OR6C4	12	55945454	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	280	55945454	77906441	827	37183											
ITGA7	3679	broad.mit.edu	37	chr12	56082688	56082688	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcacagccgcgcggtcaaaGctgtagagtgggcagctgaa	15	10	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:56082688G>T	uc001shh.2	-	22	3130	c.2910C>A	c.(2908-2910)AGC>AGA	p.S970R	ITGA7_uc001shg.2_Missense_Mutation_p.S966R|ITGA7_uc010sps.1_Missense_Mutation_p.S873R|ITGA7_uc001shf.2_5'Flank|ITGA7_uc009znw.2_Missense_Mutation_p.S213R|ITGA7_uc009znx.2_Missense_Mutation_p.S847R	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	1010	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						CGCGGTCAAAGCTGTAGAGTG	0.592													T	56082688	G	T	56082688	3	4	45	1	0	0	0	0	1	0	0	0	7881	962	34	5	531	5	ITGA7	12	56082688	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	137234	56082688	77769207	828	37184											
CS	1431	broad.mit.edu	37	chr12	56667564	56667564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttccttagtactgcatggCcatagcctggaacaacctgt	8	12	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:56667564C>T	uc001sks.1	-	10	1227	c.1037G>A	c.(1036-1038)GGC>GAC	p.G346D	CS_uc010sql.1_Missense_Mutation_p.G333D|CS_uc001skr.1_Missense_Mutation_p.G280D|CS_uc001skt.1_Missense_Mutation_p.G301D|CS_uc010sqm.1_3'UTR	NM_004077	NP_004068	O75390	CISY_HUMAN	citrate synthase precursor	346					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity				0		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		TACTGCATGGCCATAGCCTGG	0.348													T	56667564	C	T	56667564	3	4	45	1	0	0	0	0	1	0	0	0	3924	739	26	2	371	2	CS	12	56667564	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	584876	56667564	77184331	829	37185											
GPR182	11318	broad.mit.edu	37	chr12	57389029	57389029	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgggggcctggcccctcGgagggggtcaccgcagtgcc	18	14	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:57389029G>T	uc001smk.2	+	2	130	c.36G>T	c.(34-36)TCG>TCT	p.S12S	RDH16_uc010sqx.1_Intron	NM_007264	NP_009195	O15218	GP182_HUMAN	G protein-coupled receptor 182	12	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(1)	1						CTGGCCCCTCGGAGGGGGTCA	0.597													T	57389029	G	T	57389029	2	4	45	1	0	0	0	0	0	0	0	1	6677	1103	39	5		5	GPR182	12	57389029	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	721465	57389029	76462866	830	37186											
MON2	23041	broad.mit.edu	37	chr12	62926342	62926342	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgattgaaggagagctaggaGagcttgaaacagaatgtcaa	13	4	1	6			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:62926342G>T	uc001sre.2	+	12	1916	c.1525G>T	c.(1525-1527)GAG>TAG	p.E509*	MON2_uc009zqj.2_Nonsense_Mutation_p.E509*|MON2_uc010ssl.1_Nonsense_Mutation_p.E437*|MON2_uc010ssm.1_Nonsense_Mutation_p.E509*|MON2_uc010ssn.1_Nonsense_Mutation_p.E509*|MON2_uc001srf.2_Nonsense_Mutation_p.E272*	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	509					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AGAGCTAGGAGAGCTTGAAAC	0.443													T	62926342	G	T	62926342	4	4	45	1	0	0	0	0	0	1	0	0	9700	943	33	5	1571	5	MON2	12	62926342	Nonsense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	5537313	62926342	70925553	831	37187											
AVPR1A	552	broad.mit.edu	37	chr12	63541343	63541343	+	Frame_Shift_Del	DEL	A	A	-													tcttgaaggagatggccactAaaaaacatgtatatccaggg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:63541342_63541342TA>T	uc001sro.1	-	1	3028	c.1054_1054TA>A	c.(1054-1056)agtfs	p.S352fs		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	352					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	AGATGGCCACTAAAAAACATG	0.398													-	63541343	A	-	63541343	7	5	45	1	0	1	0	1	0	0	0	0	1231	359	13	0	207	0	AVPR1A	12	63541343	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	615001	63541343	70310552	832	37188											
HELB	92797	broad.mit.edu	37	chr12	66704208	66704208	+	Frame_Shift_Del	DEL	A	A	-													cagttggaagaaagagaagtAaaaaaagcctgtgaagattt							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:66704207_66704207TA>T	uc001sti.2	+	3	1527	c.1499_1499TA>T	c.(1498-1500)gtafs	p.V500fs	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	500					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GAAAGAGAAGTAAAAAAAGCC	0.413													-	66704208	A	-	66704208	7	5	45	1	0	1	0	1	0	0	0	0	7045	349	13	0	1514	0	HELB	12	66704208	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	3162865	66704208	67147687	833	37189											
CAND1	55832	broad.mit.edu	37	chr12	67696193	67696193	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatgctgtagttagcacaaGgcatgaaatgcttccagaat	11	7	0	2	rs4255614		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:67696193G>T	uc001stn.2	+	8	1528	c.1091G>T	c.(1090-1092)AGG>ATG	p.R364M	CAND1_uc001sto.2_Missense_Mutation_p.R42M	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	364	HEAT 8.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GTTAGCACAAGGCATGAAATG	0.433													T	67696193	G	T	67696193	3	4	45	1	0	0	0	0	1	0	0	0	2615	1000	35	5	1121	5	CAND1	12	67696193	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	991985	67696193	66155702	834	37190											
CAND1	55832	broad.mit.edu	37	chr12	67700125	67700125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaccttcctgaatatctgCcgtttgtcctgcaagaaata	7	11	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:67700125C>T	uc001stn.2	+	10	3114	c.2677C>T	c.(2677-2679)CCG>TCG	p.P893S	CAND1_uc001sto.2_Missense_Mutation_p.P403S	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	893	HEAT 21.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TGAATATCTGCCGTTTGTCCT	0.413													T	67700125	C	T	67700125	3	4	45	1	0	0	0	0	1	0	0	0	2615	739	26	2	2715	2	CAND1	12	67700125	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3932	67700125	66151770	835	37191											
LRRIQ1	84125	broad.mit.edu	37	chr12	85445956	85445956	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attattatcatatgttcagcAagaacaggacaagatgaatg	8	5	2	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:85445956A>G	uc001tac.2	+	7	791	c.680A>G	c.(679-681)CAA>CGA	p.Q227R	LRRIQ1_uc001tab.1_Missense_Mutation_p.Q227R|LRRIQ1_uc001taa.1_Intron	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	227	Glu-rich.									ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		TATGTTCAGCAAGAACAGGAC	0.234													G	85445956	A	G	85445956	3	3	45	1	0	0	0	0	1	0	0	0	9029	144	5	3	702	3	LRRIQ1	12	85445956	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	17745831	85445956	48405939	836	37192											
EEA1	8411	broad.mit.edu	37	chr12	93213103	93213103	+	Frame_Shift_Del	DEL	T	T	-													cttgctcctgtagtgtatggTttttttcttgtaactggtta							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:93213102_93213102GT>G	uc001tck.3	-	13	1975	c.1710_1710AC>C	c.(1708-1710)aacfs	p.N570fs		NM_003566	NP_003557	Q15075	EEA1_HUMAN	Homo sapiens early endosome antigen 1 (EEA1), mRNA.	570	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GTAGTGTATGGTTTTTTTCTT	0.294													-	93213103	T	-	93213103	7	5	45	1	0	1	0	1	0	0	0	0	4921	1725	60	0	2590	0	EEA1	12	93213103	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	7767147	93213103	40638792	837	37193											
ELK3	2004	broad.mit.edu	37	chr12	96641034	96641034	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgcccgaagacagcccccCcgtggaagaagtcaggactg	13	15	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:96641034C>A	uc001teo.1	+	3	803	c.524C>A	c.(523-525)CCC>CAC	p.P175H		NM_005230	NP_005221	P41970	ELK3_HUMAN	ELK3 protein	175					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	all_cancers(2;0.00173)					GACAGCCCCCCCGTGGAAGAA	0.582													A	96641034	C	A	96641034	3	1	45	1	0	0	0	0	1	0	0	0	5060	623	22	5	530	5	ELK3	12	96641034	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3427931	96641034	37210861	838	37194											
TMPO	7112	broad.mit.edu	37	chr12	98938068	98938068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggatcttcaaaaggcggaCctctgcaggcattaactagg	12	9	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:98938068C>T	uc001tfj.2	+	5	961	c.724C>T	c.(724-726)CCT>TCT	p.P242S	TMPO_uc001tfk.2_Intron|TMPO_uc001tfl.2_Intron	NM_001032283	NP_001027454	P42167	LAP2B_HUMAN	thymopoietin isoform beta	242	Nucleoplasmic (Potential).|NAKAP95-binding N.					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			ovary(2)	2						AAAAGGCGGACCTCTGCAGGC	0.413													T	98938068	C	T	98938068	3	4	45	1	0	0	0	0	1	0	0	0	16234	507	18	4	2266	4	TMPO	12	98938068	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2297034	98938068	34913827	839	37195											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100444003	100444003	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgcctaattggtctggtgTcacctggttcacttgaagac	10	9	3	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:100444003T>C	uc001tgq.2	-	17	3890	c.3661A>G	c.(3661-3663)ACA>GCA	p.T1221A	UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.T871A	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	1221										ovary(2)	2						TGGTCTGGTGTCACCTGGTTC	0.353													C	100444003	T	C	100444003	3	2	45	1	0	0	0	0	1	0	0	0	16966	1667	58	3	753	3	UHRF1BP1L	12	100444003	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1505935	100444003	33407892	840	37196											
STAB2	55576	broad.mit.edu	37	chr12	104089412	104089412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgactattccatcttcCggggctacatcattgcaagt	8	12	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:104089412C>T	uc001tjw.2	+	32	3646	c.3460C>T	c.(3460-3462)CGG>TGG	p.R1154W		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1154	Extracellular (Potential).|FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						TTCCATCTTCCGGGGCTACAT	0.512													T	104089412	C	T	104089412	3	4	45	1	0	0	0	0	1	0	0	0	15237	643	23	1	3586	1	STAB2	12	104089412	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3645409	104089412	29762483	841	37197											
STAB2	55576	broad.mit.edu	37	chr12	104149134	104149134	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaccgggcgggttgcctacCccacagccttcgcctcccag	11	18	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:104149134C>A	uc001tjw.2	+	62	6955	c.6769C>A	c.(6769-6771)CCC>ACC	p.P2257T	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2257	Extracellular (Potential).|Link.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						GGTTGCCTACCCCACAGCCTT	0.567													A	104149134	C	A	104149134	3	1	45	1	0	0	0	0	1	0	0	0	15237	623	22	5	7015	5	STAB2	12	104149134	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	59722	104149134	29702761	842	37198											
RFX4	5992	broad.mit.edu	37	chr12	106977126	106977126	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtgggttactggaggaacccGacatggattccacaggttag	14	8	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:106977126G>T	uc001tlr.2	+	1	94	c.28G>T	c.(28-30)GAC>TAC	p.D10Y		NM_213594	NP_998759	Q33E94	RFX4_HUMAN	regulatory factor X4 isoform c	10					transcription, DNA-dependent	nucleus	DNA binding			upper_aerodigestive_tract(1)	1						GGAGGAACCCGACATGGATTC	0.552													T	106977126	G	T	106977126	3	4	45	1	0	0	0	0	1	0	0	0	13265	1058	37	5	30	5	RFX4	12	106977126	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2827992	106977126	26874769	843	37199											
BTBD11	121551	broad.mit.edu	37	chr12	108011162	108011162	+	Frame_Shift_Del	DEL	C	C	-													caggaatggaatttctacaaCcccccagggtgatatgaact							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:108011161_108011161AC>A	uc001tmk.1	+	8	2700	c.2179_2179AC>A	c.(2179-2181)accfs	p.T727fs	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.3_Frame_Shift_Del_p.T727fs|BTBD11_uc001tml.1_Frame_Shift_Del_p.T264fs	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	727						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AATTTCTACAACCCCCCAGGG	0.527													-	108011162	C	-	108011162	7	5	45	1	0	1	0	1	0	0	0	0	1539	507	18	0	2319	0	BTBD11	12	108011162	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	1034036	108011162	25840733	844	37200											
WSCD2	9671	broad.mit.edu	37	chr12	108620779	108620779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccccaggagtacccgctgGcagctcttgcaggcaccgcc	11	17	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:108620779G>A	uc001tms.2	+	6	1561	c.817G>A	c.(817-819)GCA>ACA	p.A273T	WSCD2_uc001tmt.2_Missense_Mutation_p.A273T|WSCD2_uc001tmu.2_Missense_Mutation_p.A21T	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	273	WSC 2.					integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						GTACCCGCTGGCAGCTCTTGC	0.567													A	108620779	G	A	108620779	3	1	45	1	0	0	0	0	1	0	0	0	17404	1203	42	2	835	2	WSCD2	12	108620779	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	609617	108620779	25231116	845	37201											
WSCD2	9671	broad.mit.edu	37	chr12	108634185	108634185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatcaagacgcacgaaagCggccagaaagagatcgaggc	13	10	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:108634185C>T	uc001tms.2	+	8	1953	c.1209C>T	c.(1207-1209)AGC>AGT	p.S403S	WSCD2_uc001tmt.2_Silent_p.S403S|WSCD2_uc001tmu.2_Silent_p.S151S	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	403						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						CGCACGAAAGCGGCCAGAAAG	0.607													T	108634185	C	T	108634185	2	4	45	1	0	0	0	0	0	0	0	1	17404	767	27	1		1	WSCD2	12	108634185	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	13406	108634185	25217710	846	37202											
ACACB	32	broad.mit.edu	37	chr12	109577798	109577798	+	Frame_Shift_Del	DEL	G	G	-													aagggcagccgggccagcttGggggccctgtccctggaggc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:109577797_109577797TG>T	uc001tob.3	+	1	706	c.587_587TG>T	c.(586-588)ttgfs	p.L196fs	ACACB_uc001toc.3_Frame_Shift_Del_p.L196fs	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	196					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CGGGCCAGCTTGGGGGCCCTG	0.567													-	109577798	G	-	109577798	7	5	45	1	0	1	0	1	0	0	0	0	107	1339	47	0	590	0	ACACB	12	109577798	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	943613	109577798	24274097	847	37203											
DTX1	1840	broad.mit.edu	37	chr12	113515234	113515234	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatttcgagtacaggcaccAtgcggcccgtgcggcgcaac	12	15	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:113515234A>G	uc001tuk.1	+	2	601	c.265A>G	c.(265-267)ATG>GTG	p.M89V		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	89	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						TACAGGCACCATGCGGCCCGT	0.701													G	113515234	A	G	113515234	3	3	45	1	0	0	0	0	1	0	0	0	4793	217	8	3	271	3	DTX1	12	113515234	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	3937436	113515234	20336661	848	37204											
KSR2	283455	broad.mit.edu	37	chr12	118198971	118198971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttcttcttcctcatgggCggcgtgcccggcggggtcac	14	13	4	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:118198971C>T	uc001two.2	-	4	799	c.744G>A	c.(742-744)CCG>CCA	p.P248P		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	277	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTCATGGGCGGCGTGCCCG	0.701													T	118198971	C	T	118198971	2	4	45	1	0	0	0	0	0	0	0	1	8582	755	27	1		1	KSR2	12	118198971	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	4683737	118198971	15652924	849	37205											
WSB2	55884	broad.mit.edu	37	chr12	118481123	118481123	+	Frame_Shift_Del	DEL	C	C	-													gcgtcttctcttttgggctgCcccgccctttcgtctcattt							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:118481122_118481122GC>G	uc001twr.2	-	2	341	c.243_243GC>C	c.(241-243)ggcfs	p.G81fs	WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_Intron|WSB2_uc009zws.1_Frame_Shift_Del_p.G81fs	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	Homo sapiens WD repeat and SOCS box containing 2 (WSB2), mRNA.	81					intracellular signal transduction			p.R80R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTTTGGGCTGCCCCGCCCTT	0.547													-	118481123	C	-	118481123	7	5	45	1	0	1	0	1	0	0	0	0	17402	739	26	0	1000	0	WSB2	12	118481123	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	282152	118481123	15370772	850	37206											
COQ5	84274	broad.mit.edu	37	chr12	120966756	120966758	+	In_Frame_Del	DEL	CTC	CTC	-													ctttcacctttgccccccttCtcctcttccgacacagtctc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:120966755_120966757TCTC>T	uc001tyn.3	-	0	208_210	c.188_190GAGA>A	c.(187-192)gagaag>gAag	p.K64del	COQ5_uc010szj.2_In_Frame_Del_p.K64del	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN	Homo sapiens coenzyme Q5 homolog, methyltransferase (S. cerevisiae) (COQ5), nuclear gene encoding mitochondrial protein, mRNA.	64					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGCCCCCCTTCTCCTCTTCCGA	0.567													-	120966758	CTC	-	120966756	7	5	45	1	0	1	0	1	0	0	0	0	3748	912	32	0	822	0	COQ5	12	120966756	In_Frame_Del	DEL	CTC	TCGA-BR-6852-01A-11D-1882-08	2485633	120966756	12885139	851	37207											
DNAH10	196385	broad.mit.edu	37	chr12	124311423	124311423	+	Frame_Shift_Del	DEL	A	A	-													ttcctttacttcttgacttgAaaaacgaggcactaagagac							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:124311422_124311422GA>G	uc001uft.4	+	23	4039	c.4014_4014GA>G	c.(4012-4014)ttgfs	p.L1338fs		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1338	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCTTGACTTGAAAAACGAGG	0.423													-	124311423	A	-	124311423	7	5	45	1	0	1	0	1	0	0	0	0	4598	247	9	0	4109	0	DNAH10	12	124311423	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	3344667	124311423	9540472	852	37208											
NCOR2	9612	broad.mit.edu	37	chr12	124821593	124821593	+	Frame_Shift_Del	DEL	G	G	-													ccgctctggccgggcgacccGgggggcctccttgggcagca							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:124821593delG	uc010tay.1	-	40	6007	c.5851delC	c.(5851-5853)CGGfs	p.R1951fs	NCOR2_uc010taz.1_Frame_Shift_Del_p.R1935fs|NCOR2_uc010tax.1_Frame_Shift_Del_p.R62fs	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	1952					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGGGCGACCCGGGGGGCCTCC	0.726													-	124821593	G	-	124821593	7	5	45	1	0	1	0	1	0	0	0	0	10236	1115	39	0	1763	0	NCOR2	12	124821593	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	510170	124821593	9030302	853	37209											
UBC	7316	broad.mit.edu	37	chr12	125396267	125396267	+	Frame_Shift_Del	DEL	C	C	-													taaaaggggaaacttagacaCcccccctcaagcgcaggacc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:125396266_125396266AC>A	uc001ugs.4	-	1	2510	c.2052_2052GT>T	c.(2050-2052)ggtfs	p.G684fs	UBC_uc001ugr.3_Non-coding_Transcript|UBC_uc001ugt.3_Frame_Shift_Del_p.G532fs|UBC_uc001ugu.1_Frame_Shift_Del_p.G608fs|UBC_uc001ugv.3_Frame_Shift_Del_p.G152fs|UBC_uc021rge.1_Frame_Shift_Del_p.G684fs	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	684	Ubiquitin-like 9.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AAACTTAGACACCCCCCCTCA	0.413													-	125396267	C	-	125396267	7	5	45	1	0	1	0	1	0	0	0	0	16839	507	18	0	10	0	UBC	12	125396267	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	574674	125396267	8455628	854	37210											
TMEM132D	121256	broad.mit.edu	37	chr12	129559129	129559129	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctttcctggcctttcttcTtctgcaggatggacctgtct	10	12	4	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:129559129T>G	uc009zyl.1	-	9	2919	c.2591A>C	c.(2590-2592)AAG>ACG	p.K864T	TMEM132D_uc001uia.2_Missense_Mutation_p.K402T	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	864	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCCTTTCTTCTTCTGCAGGAT	0.572													G	129559129	T	G	129559129	3	3	45	1	0	0	0	0	1	0	0	0	16044	1609	56	5	712	5	TMEM132D	12	129559129	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	4162862	129559129	4292766	855	37211											
ULK1	8408	broad.mit.edu	37	chr12	132401007	132401007	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgctggccctcctagcccGgcagggcgtggtgatgacgc	15	15	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:132401007G>T	uc001uje.2	+	20	2211	c.1943G>T	c.(1942-1944)CGG>CTG	p.R648L		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	648					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTCCTAGCCCGGCAGGGCGTG	0.677													T	132401007	G	T	132401007	3	4	45	1	0	0	0	0	1	0	0	0	16972	1116	39	5	2021	5	ULK1	12	132401007	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2841878	132401007	1450888	856	37212											
ULK1	8408	broad.mit.edu	37	chr12	132405868	132405868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcaagctgtgcattgagCggagactctcggcgctgctg	15	11	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:132405868C>T	uc001uje.2	+	28	3383	c.3115C>T	c.(3115-3117)CGG>TGG	p.R1039W		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	1039					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GTGCATTGAGCGGAGACTCTC	0.667													T	132405868	C	T	132405868	3	4	45	1	0	0	0	0	1	0	0	0	16972	759	27	1	3225	1	ULK1	12	132405868	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	4861	132405868	1446027	857	37213											
EP400	57634	broad.mit.edu	37	chr12	132502083	132502083	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttctccacgggcagcacTcaggaggccttgaagagcgg	13	12	3	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:132502083T>C	uc001ujn.2	+	19	3962	c.3927T>C	c.(3925-3927)ACT>ACC	p.T1309T	EP400_uc001ujl.2_Silent_p.T1308T|EP400_uc001ujm.2_Silent_p.T1309T	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1345	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CGGGCAGCACTCAGGAGGCCT	0.592													C	132502083	T	C	132502083	2	2	45	1	0	0	0	0	0	0	0	1	5149	1538	54	3		3	EP400	12	132502083	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	96215	132502083	1349812	858	37214											
PGAM5	192111	broad.mit.edu	37	chr12	133294630	133294630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggaactacatccaccgcGcagatgccaggcaggaggag	13	13	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:133294630G>A	uc009zyv.2	+	5	670	c.643G>A	c.(643-645)GCA>ACA	p.A215T	PGAM5_uc010tbr.1_RNA|PGAM5_uc001uku.2_Missense_Mutation_p.A215T	NM_138575	NP_612642	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	215						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		CATCCACCGCGCAGATGCCAG	0.622													A	133294630	G	A	133294630	3	1	45	1	0	0	0	0	1	0	0	0	11776	1087	38	1	661	1	PGAM5	12	133294630	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	792547	133294630	557265	859	37215											
ANKLE2	23141	broad.mit.edu	37	chr12	133313524	133313524	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggctctcagggtcagtacCgggtctctggggctgcctcc	14	13	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr12:133313524C>T	uc001ukx.2	-	8	1615	c.1548G>A	c.(1546-1548)CCG>CCA	p.P516P	ANKLE2_uc009zyw.1_5'Flank|ANKLE2_uc001uky.3_Silent_p.P454P	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	516						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GGGTCAGTACCGGGTCTCTGG	0.617													T	133313524	C	T	133313524	2	4	45	1	0	0	0	0	0	0	0	1	633	639	23	1		1	ANKLE2	12	133313524	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	18894	133313524	538371	860	37216											
CRYL1	51084	broad.mit.edu	37	chr13	21006389	21006389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcgtaggggccgtctccGggtgggggaccagctcaacc	16	13	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:21006389G>A	uc001une.2	-	5	564	c.485C>T	c.(484-486)CCG>CTG	p.P162L	CRYL1_uc001unf.2_Missense_Mutation_p.P140L|CRYL1_uc001ung.2_Missense_Mutation_p.P140L|CRYL1_uc010tcp.1_Missense_Mutation_p.P36L	NM_015974	NP_057058	Q9Y2S2	CRYL1_HUMAN	lambda-crystallin	162					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity				0		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		GGCCGTCTCCGGGTGGGGGAC	0.592													A	21006389	G	A	21006389	3	1	45	1	0	0	0	0	1	0	0	0	3920	1116	39	1	490	1	CRYL1	13	21006389	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08		21006389	94163489	861	37217											
LATS2	26524	broad.mit.edu	37	chr13	21562308	21562308	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctctgctccatgcctgcGcacaggctgtccaggtcgta	12	14	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:21562308G>A	uc009zzs.2	-	4	1976	c.1611C>T	c.(1609-1611)TGC>TGT	p.C537C	LATS2_uc001unr.3_Silent_p.C537C	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	537					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CCATGCCTGCGCACAGGCTGT	0.667													A	21562308	G	A	21562308	2	1	45	1	0	0	0	0	0	0	0	1	8647	1079	38	1		1	LATS2	13	21562308	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	555919	21562308	93607570	862	37218											
FGF9	2254	broad.mit.edu	37	chr13	22246092	22246092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggaactatttcggtgtgcAggatgcggtaccgtttggga	16	6	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:22246092A>G	uc001uog.2	+	1	878	c.41A>G	c.(40-42)CAG>CGG	p.Q14R		NM_002010	NP_002001	P31371	FGF9_HUMAN	fibroblast growth factor 9 precursor	14					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding				0		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		TTCGGTGTGCAGGATGCGGTA	0.547													G	22246092	A	G	22246092	3	3	45	1	0	0	0	0	1	0	0	0	5859	188	7	3	43	3	FGF9	13	22246092	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	683784	22246092	92923786	863	37219											
SACS	26278	broad.mit.edu	37	chr13	23907766	23907766	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgcttacatagcggccacTgatggatttatagcacggaa	10	8	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:23907766T>G	uc001uon.2	-	10	10838	c.10249A>C	c.(10249-10251)AGT>CGT	p.S3417R	SACS_uc001uoo.2_Missense_Mutation_p.S3270R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3417					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAGCGGCCACTGATGGATTTA	0.368													G	23907766	T	G	23907766	3	3	45	1	0	0	0	0	1	0	0	0	13804	1580	55	5	3494	5	SACS	13	23907766	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1661674	23907766	91262112	864	37220											
SACS	26278	broad.mit.edu	37	chr13	23911305	23911305	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttgctgcaaacatggttTcaggcttaaaactgttgcct	9	9	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:23911305T>C	uc001uon.2	-	10	7299	c.6710A>G	c.(6709-6711)GAA>GGA	p.E2237G	SACS_uc001uoo.2_Missense_Mutation_p.E2090G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2237					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAACATGGTTTCAGGCTTAAA	0.368													C	23911305	T	C	23911305	3	2	45	1	0	0	0	0	1	0	0	0	13804	1783	62	3	7033	3	SACS	13	23911305	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	3539	23911305	91258573	865	37221											
PARP4	143	broad.mit.edu	37	chr13	25009030	25009030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctggtagtaaagcctccagGatgttgcagtggagcagact	13	9	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:25009030G>A	uc001upl.2	-	31	4355	c.4249C>T	c.(4249-4251)CCT>TCT	p.P1417S		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1417					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AAGCCTCCAGGATGTTGCAGT	0.532													A	25009030	G	A	25009030	3	1	45	1	0	0	0	0	1	0	0	0	11463	1174	41	4	941	4	PARP4	13	25009030	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1097725	25009030	90160848	866	37222											
RNF17	56163	broad.mit.edu	37	chr13	25399909	25399909	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtaccgagcaaaagttatCggtaggagaatgcatgctgt	13	6	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:25399909C>T	uc001upr.2	+	16	2285	c.2244C>T	c.(2242-2244)ATC>ATT	p.I748I	RNF17_uc010tdd.1_Silent_p.I607I|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.I748I|RNF17_uc001ups.2_Silent_p.I687I	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	748	Tudor 1.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CAAAAGTTATCGGTAGGAGAA	0.368													T	25399909	C	T	25399909	2	4	45	1	0	0	0	0	0	0	0	1	13461	898	31	1		1	RNF17	13	25399909	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	390879	25399909	89769969	867	37223											
CENPJ	55835	broad.mit.edu	37	chr13	25484117	25484117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatgtttcttcctgggttgGgtccgggtagacatatgatg	14	6	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:25484117G>A	uc001upt.3	-	4	929	c.676C>T	c.(676-678)CCA>TCA	p.P226S	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	226					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TCCTGGGTTGGGTCCGGGTAG	0.473													A	25484117	G	A	25484117	3	1	45	1	0	0	0	0	1	0	0	0	3234	1232	43	4	3396	4	CENPJ	13	25484117	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	84208	25484117	89685761	868	37224											
FRY	10129	broad.mit.edu	37	chr13	32783063	32783063	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctacctgctgccctggctGcacaacatcgagctggtgga	11	14	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:32783063G>A	uc001utx.2	+	32	4588	c.4092G>A	c.(4090-4092)CTG>CTA	p.L1364L	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGCCCTGGCTGCACAACATCG	0.597													A	32783063	G	A	32783063	2	1	45	1	0	0	0	0	0	0	0	1	6063	1306	46	2		2	FRY	13	32783063	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	7298946	32783063	82386815	869	37225											
BRCA2	675	broad.mit.edu	37	chr13	32931894	32931894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagctgtatacgtatggcGtttctaaacattgcataaaa	8	6	1	0	rs80358990		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:32931894G>A	uc001uub.1	+	16	7860	c.7633G>A	c.(7633-7635)GTT>ATT	p.V2545I		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2545	Interaction with FANCD2.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TACGTATGGCGTTTCTAAACA	0.289			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			A	32931894	G	A	32931894	3	1	45	1	0	0	0	0	1	0	0	0	1499	1145	40	1	7691	1	BRCA2	13	32931894	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	148831	32931894	82237984	870	37226											
RFC3	5983	broad.mit.edu	37	chr13	34404030	34404030	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgctcagcatgccttgcgaaGaaccatggaaaaatatatgt	9	8	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:34404030G>A	uc001uuz.2	+	5	559	c.449G>A	c.(448-450)AGA>AAA	p.R150K	RFC3_uc001uva.2_Missense_Mutation_p.R150K|RFC3_uc010ted.1_Missense_Mutation_p.R150K	NM_002915	NP_002906	P40938	RFC3_HUMAN	replication factor C 3 isoform 1	150					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding				0		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		GCCTTGCGAAGAACCATGGAA	0.403													A	34404030	G	A	34404030	3	1	45	1	0	0	0	0	1	0	0	0	13246	942	33	4	467	4	RFC3	13	34404030	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1472136	34404030	80765848	871	37227											
NBEA	26960	broad.mit.edu	37	chr13	35923259	35923259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttagattactgtgccatgCtatgaaggaccatatagtcc	8	8	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:35923259C>T	uc001uvb.2	+	37	6124	c.5918C>T	c.(5917-5919)GCT>GTT	p.A1973V	NBEA_uc010abi.2_Missense_Mutation_p.A629V	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1973						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTGTGCCATGCTATGAAGGAC	0.338													T	35923259	C	T	35923259	3	4	45	1	0	0	0	0	1	0	0	0	10187	797	28	2	6064	2	NBEA	13	35923259	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1519229	35923259	79246619	872	37228											
FREM2	341640	broad.mit.edu	37	chr13	39262365	39262365	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgaggggctcctgtgggcaGccctgctttgaaacgcgagc	15	12	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:39262365G>T	uc001uwv.2	+	1	1193	c.884G>T	c.(883-885)AGC>ATC	p.S295I		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	295	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCTGTGGGCAGCCCTGCTTTG	0.612													T	39262365	G	T	39262365	3	4	45	1	0	0	0	0	1	0	0	0	6045	971	34	5	886	5	FREM2	13	39262365	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	3339106	39262365	75907513	873	37229											
FREM2	341640	broad.mit.edu	37	chr13	39264188	39264188	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacagggccgagtttcctatGcccataatggggacaagtcc	11	11	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:39264188G>T	uc001uwv.2	+	1	3016	c.2707G>T	c.(2707-2709)GCC>TCC	p.A903S		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	903	CSPG 5.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGTTTCCTATGCCCATAATGG	0.522													T	39264188	G	T	39264188	3	4	45	1	0	0	0	0	1	0	0	0	6045	1319	46	5	2709	5	FREM2	13	39264188	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1823	39264188	75905690	874	37230											
KIAA0564	23078	broad.mit.edu	37	chr13	42149928	42149928	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggattttgttcattggaAccagaccaatgttgtagcca	11	7	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:42149928A>G	uc001uyj.2	-	43	5388	c.5318T>C	c.(5317-5319)GTT>GCT	p.V1773A		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1773	VWFA.					extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		GTTCATTGGAACCAGACCAAT	0.358													G	42149928	A	G	42149928	3	3	45	1	0	0	0	0	1	0	0	0	8185	43	2	3	411	3	KIAA0564	13	42149928	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	2885740	42149928	73019950	875	37231											
DNAJC15	29103	broad.mit.edu	37	chr13	43652796	43652796	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaacagaaaatgagtaggCgagaagctggtcttatttta	11	4	1	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:43652796C>T	uc001uyy.2	+	4	684	c.283C>T	c.(283-285)CGA>TGA	p.R95*		NM_013238	NP_037370	Q9Y5T4	DJC15_HUMAN	DNAJ domain-containing	95						integral to membrane	heat shock protein binding				0		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		AATGAGTAGGCGAGAAGCTGG	0.378													T	43652796	C	T	43652796	4	4	45	1	0	0	0	0	0	1	0	0	4634	760	27	1	297	1	DNAJC15	13	43652796	Nonsense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1502868	43652796	71517082	876	37232											
SIAH3	283514	broad.mit.edu	37	chr13	46357608	46357608	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagagaagagctgtgccagCgaggtgttgaggacgaggca	17	7	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:46357608C>A	uc001vap.2	-	2	802	c.720G>T	c.(718-720)TCG>TCT	p.S240S		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	seven in absentia homolog 3	240					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			ovary(1)|skin(1)	2						GCTGTGCCAGCGAGGTGTTGA	0.612													A	46357608	C	A	46357608	2	1	45	1	0	0	0	0	0	0	0	1	14301	755	27	5		5	SIAH3	13	46357608	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2704812	46357608	68812270	877	37233											
ZC3H13	23091	broad.mit.edu	37	chr13	46616337	46616338	+	Frame_Shift_Ins	INS	-	-	G													tcctctgtatttcgtttctgINSgggctcagtgtccacgtctt							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:46616336_46616337T>TG	uc010tfw.1	-	2	307_308	c.301_302A>CA	c.(301-303)cagfs	p.Q101fs	ZC3H13_uc001vas.1_Frame_Shift_Ins_p.Q101fs|ZC3H13_uc001vat.1_Frame_Shift_Ins_p.Q101fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	101							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATTTCGTTTCTGGGGCTCAGTG	0.411													G	46616338	-	G	46616337	7	5	45	1	0	1	1	0	0	0	0	0	17562	1357	47	0	4449	0	ZC3H13	13	46616337	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	258729	46616337	68553541	878	37234											
RCBTB2	1102	broad.mit.edu	37	chr13	49084818	49084818	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactggttgcttttattgccAgtgcccaactgcccataaga	9	11	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:49084818A>G	uc001vch.2	-	10	1244	c.873T>C	c.(871-873)ACT>ACC	p.T291T	RCBTB2_uc010tgg.1_Silent_p.T296T|RCBTB2_uc001vci.2_Silent_p.T267T|RCBTB2_uc010tgh.1_Intron|RCBTB2_uc001vcj.2_Intron|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_Intron	NM_001268	NP_001259	O95199	RCBT2_HUMAN	regulator of chromosome condensation and BTB	291	RCC1 5.						Ran guanyl-nucleotide exchange factor activity			ovary(2)|lung(2)|skin(1)	5		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TTTTATTGCCAGTGCCCAACT	0.493													G	49084818	A	G	49084818	2	3	45	1	0	0	0	0	0	0	0	1	13172	175	7	3		3	RCBTB2	13	49084818	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	2468481	49084818	66085060	879	37235											
THSD1	55901	broad.mit.edu	37	chr13	52951775	52951775	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttatctttgggggatatgGgagaagactgcttccttgag	14	5	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:52951775G>T	uc001vgo.2	-	5	2875	c.2330C>A	c.(2329-2331)CCC>CAC	p.P777H	THSD1_uc001vgp.2_Missense_Mutation_p.P724H|THSD1_uc010tgz.1_Missense_Mutation_p.P398H|THSD1_uc010aea.2_Missense_Mutation_p.P238H	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	777	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GGGGGATATGGGAGAAGACTG	0.537													T	52951775	G	T	52951775	3	4	45	1	0	0	0	0	1	0	0	0	15874	1232	43	5	232	5	THSD1	13	52951775	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	3866957	52951775	62218103	880	37236											
PCDH9	5101	broad.mit.edu	37	chr13	66878841	66878841	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctgcttgcttataagaCttcagatttgccagaggaat	8	10	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:66878841C>T	uc001vik.2	-	5	4352	c.3660G>A	c.(3658-3660)AAG>AAA	p.K1220K	PCDH9_uc010aei.2_RNA|PCDH9_uc001vil.2_Silent_p.K1186K|PCDH9_uc010thl.1_Silent_p.K1178K	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	1220	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GCTTATAAGACTTCAGATTTG	0.433													T	66878841	C	T	66878841	2	4	45	1	0	0	0	0	0	0	0	1	11518	564	20	4		4	PCDH9	13	66878841	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	13927066	66878841	48291037	881	37237											
SCEL	8796	broad.mit.edu	37	chr13	78178491	78178491	+	Splice_Site	DEL	A	A	-													attaatttcctttttcaaagAaaaaaagaccttgatgggct							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:78178490_78178490GA>G	uc001vki.3	+	19	1268	c.1098_splice	c.e19-1	p.G366_splice	SCEL_uc010thx.2_Intron|SCEL_uc001vkj.3_Splice_Site_p.G346_splice	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	366	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CTTTTTCAAAGAAAAAAAGAC	0.308													-	78178491	A	-	78178491	8	5	45	1	0	1	0	1	0	0	1	0	13888	260	9	0	1168	0	SCEL	13	78178491	Splice_Site	DEL	A	TCGA-BR-6852-01A-11D-1882-08	11299650	78178491	36991387	882	37238											
SLITRK1	114798	broad.mit.edu	37	chr13	84453981	84453981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtctcacacttgaggtcGctcatcagcacttcggaacc	10	14	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:84453981G>A	uc001vlk.2	-	1	2548	c.1662C>T	c.(1660-1662)AGC>AGT	p.S554S		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	554	LRRCT 2.|Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ACTTGAGGTCGCTCATCAGCA	0.537													A	84453981	G	A	84453981	2	1	45	1	0	0	0	0	0	0	0	1	14742	1078	38	1		1	SLITRK1	13	84453981	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	6275490	84453981	30715897	883	37239											
SLITRK1	114798	broad.mit.edu	37	chr13	84455509	84455510	+	Frame_Shift_Ins	INS	-	-	T													ctgcagacttgtgaagccctINSttttttcacagtctacgtgt							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:84455508_84455509C>CT	uc001vlk.3	-	0	1020_1021	c.134_135G>AG	c.(133-135)aagfs	p.K45fs		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	45	LRRNT.					integral to membrane		p.K45fs*64(2)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTGTGAAGCCCTTTTTTTCACA	0.465													T	84455510	-	T	84455509	7	5	45	1	0	1	1	0	0	0	0	0	14742	1609	56	0	1960	0	SLITRK1	13	84455509	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	1528	84455509	30714369	884	37240											
ABCC4	10257	broad.mit.edu	37	chr13	95735432	95735432	+	Frame_Shift_Del	DEL	A	A	-													tcacatctcttgacgtttccAaaaaatatcgccgaagaaaa							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:95735431_95735431CA>C	uc001vmd.4	-	20	2768	c.2649_2649TG>G	c.(2647-2649)ttgfs	p.L883fs	ABCC4_uc010afk.3_Frame_Shift_Del_p.L836fs	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	883	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTGACGTTTCCAAAAAATATC	0.438													-	95735432	A	-	95735432	7	5	45	1	0	1	0	1	0	0	0	0	55	131	5	0	1373	0	ABCC4	13	95735432	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	11279923	95735432	19434446	885	37241											
STK24	8428	broad.mit.edu	37	chr13	99134531	99134531	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atacttactagatctagtgcGgagcctccaccaagatattc	7	11	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:99134531G>T	uc001vnm.1	-	3	589	c.354C>A	c.(352-354)TCC>TCA	p.S118S	STK24_uc001vnn.1_Silent_p.S106S|STK24_uc010tim.1_Intron	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24 isoform a	118	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GATCTAGTGCGGAGCCTCCAC	0.318													T	99134531	G	T	99134531	2	4	45	1	0	0	0	0	0	0	0	1	15292	1103	39	5		5	STK24	13	99134531	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	3399099	99134531	16035347	886	37242											
TM9SF2	9375	broad.mit.edu	37	chr13	100181814	100181815	+	Frame_Shift_Ins	INS	-	-	A													acaaaagttagaattcttgaINSaaaaaagcatgttattgaat							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:100181813_100181814G>GA	uc001voj.1	+	3	559_560	c.426_427G>GA	c.(424-429)ttgaaafs	p.L142fs	TM9SF2_uc010afz.1_Intron	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA.	142					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TAGAATTCTTGAAAAAAAGCAT	0.312													A	100181815	-	A	100181814	7	5	45	1	0	1	1	0	0	0	0	0	15975	247	9	0	441	0	TM9SF2	13	100181814	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	1047283	100181814	14988064	887	37243											
MYO16	23026	broad.mit.edu	37	chr13	109707413	109707413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttattaaaaaagaaaggaaCttctacatttcttcaaagat	5	5	3	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:109707413C>T	uc001vqt.1	+	26	3128	c.3002C>T	c.(3001-3003)ACT>ATT	p.T1001I	MYO16_uc010agk.1_Missense_Mutation_p.T1023I|MYO16_uc001vqu.1_Missense_Mutation_p.T801I|MYO16_uc010tjh.1_Missense_Mutation_p.T513I	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1001	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AAGAAAGGAACTTCTACATTT	0.279													T	109707413	C	T	109707413	3	4	45	1	0	0	0	0	1	0	0	0	10064	565	20	4	3100	4	MYO16	13	109707413	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	9525599	109707413	5462465	888	37244											
COL4A1	1282	broad.mit.edu	37	chr13	110804777	110804777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgacactcgatgaatggcGcacttctaaactcctccagg	9	13	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:110804777G>A	uc001vqw.3	-	51	4954	c.4832C>T	c.(4831-4833)GCG>GTG	p.A1611V	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1611	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GATGAATGGCGCACTTCTAAA	0.582													A	110804777	G	A	110804777	3	1	45	1	0	0	0	0	1	0	0	0	3689	1087	38	1	185	1	COL4A1	13	110804777	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1097364	110804777	4365101	889	37245											
CARS2	79587	broad.mit.edu	37	chr13	111329449	111329449	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgacgcttgtcagagtcCgctgcagatgacaaacggta	12	10	1	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:111329449C>T	uc001vrd.2	-	7	697	c.657G>A	c.(655-657)GCG>GCA	p.A219A	CARS2_uc010tjm.1_RNA	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial	219				LVGVVPGPVGEPADSDK -> IGRRGPWSSPETSGLLTS (in Ref. 4; BAB93499).	cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding				0	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	TGTCAGAGTCCGCTGCAGATG	0.617													T	111329449	C	T	111329449	2	4	45	1	0	0	0	0	0	0	0	1	2658	666	23	1		1	CARS2	13	111329449	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	524672	111329449	3840429	890	37246											
MCF2L	23263	broad.mit.edu	37	chr13	113729379	113729379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgggaacaagcactacgCggtagactccatccgcccaa	9	14	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:113729379C>T	uc001vsu.2	+	11	1377	c.1355C>T	c.(1354-1356)GCG>GTG	p.A452V	MCF2L_uc001vsq.2_Missense_Mutation_p.A452V|MCF2L_uc010tjr.1_Missense_Mutation_p.A395V|MCF2L_uc001vsr.2_Missense_Mutation_p.A399V|MCF2L_uc001vss.3_Missense_Mutation_p.A393V|MCF2L_uc010tjs.1_Missense_Mutation_p.A393V|MCF2L_uc001vst.1_Missense_Mutation_p.A357V	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	425	Spectrin.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AAGCACTACGCGGTAGACTCC	0.657													T	113729379	C	T	113729379	3	4	45	1	0	0	0	0	1	0	0	0	9379	768	27	1	1492	1	MCF2L	13	113729379	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2399930	113729379	1440499	891	37247											
MCF2L	23263	broad.mit.edu	37	chr13	113748914	113748914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagattaactcgtccgacGcagaggaggacggcgggttg	16	9	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:113748914G>A	uc001vsu.2	+	27	3233	c.3211G>A	c.(3211-3213)GCA>ACA	p.A1071T	MCF2L_uc001vsq.2_Missense_Mutation_p.A1071T|MCF2L_uc010tjr.1_Missense_Mutation_p.A1014T|MCF2L_uc001vsr.2_Missense_Mutation_p.A1018T|MCF2L_uc010tjs.1_Missense_Mutation_p.A1012T	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	1044					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CTCGTCCGACGCAGAGGAGGA	0.622													A	113748914	G	A	113748914	3	1	45	1	0	0	0	0	1	0	0	0	9379	1087	38	1	3412	1	MCF2L	13	113748914	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	19535	113748914	1420964	892	37248											
F7	2155	broad.mit.edu	37	chr13	113768258	113768258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctccctgccttcgagggCcggaactgtgagacgcgtaa	13	13	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:113768258C>T	uc001vsv.2	+	5	465	c.414C>T	c.(412-414)GGC>GGT	p.G138G	F7_uc010agp.1_Silent_p.G131G|F7_uc001vsw.2_Silent_p.G116G|F7_uc010tjt.1_Silent_p.G69G	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	138	EGF-like 1; calcium-binding (Potential).		G -> D (in FA7D).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CCTTCGAGGGCCGGAACTGTG	0.632													T	113768258	C	T	113768258	2	4	45	1	0	0	0	0	0	0	0	1	5349	726	26	2		2	F7	13	113768258	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	19344	113768258	1401620	893	37249											
UPF3A	65110	broad.mit.edu	37	chr13	115048366	115048366	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattttaggaatcctgatgaCatccttctttttagagatcg	7	7	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr13:115048366C>T	uc001vup.2	+	3	406	c.369C>T	c.(367-369)GAC>GAT	p.D123D	UPF3A_uc010tkn.1_Silent_p.D123D|UPF3A_uc001vuq.2_Silent_p.D123D|UPF3A_uc001vus.2_Intron|UPF3A_uc001vur.2_RNA	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A	123	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			skin(1)	1	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		ATCCTGATGACATCCTTCTTT	0.303													T	115048366	C	T	115048366	2	4	45	1	0	0	0	0	0	0	0	1	17002	477	17	4		4	UPF3A	13	115048366	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1280108	115048366	121512	894	37250											
OR4L1	122742	broad.mit.edu	37	chr14	20528881	20528881	+	Frame_Shift_Del	DEL	A	A	-													gtcatcctggtcagtgtaccAaaaaaatcatcacatgggct							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:20528880_20528880CA>C	uc001vwn.1	+	0	677	c.677_677CA>C	c.(676-678)ccafs	p.P226fs		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTCAGTGTACCAAAAAAATCA	0.438													-	20528881	A	-	20528881	7	5	45	1	0	1	0	1	0	0	0	0	11074	117	5	0	680	0	OR4L1	14	20528881	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08		20528881	86820659	895	37251											
RPGRIP1	57096	broad.mit.edu	37	chr14	21813344	21813344	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgctgaatggacaagatcCtgatcaaggacagtaagcat	10	8	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:21813344C>A	uc001wag.2	+	22	3605	c.3605C>A	c.(3604-3606)CCT>CAT	p.P1202H	RPGRIP1_uc001wah.2_Missense_Mutation_p.P844H|RPGRIP1_uc001wai.2_Missense_Mutation_p.P528H|RPGRIP1_uc001wak.2_Missense_Mutation_p.P677H|RPGRIP1_uc010aim.2_Missense_Mutation_p.P585H|RPGRIP1_uc001wal.2_Missense_Mutation_p.P561H|RPGRIP1_uc001wam.2_Missense_Mutation_p.P519H	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	1202	Interaction with RPGR.				response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GGACAAGATCCTGATCAAGGA	0.418													A	21813344	C	A	21813344	3	1	45	1	0	0	0	0	1	0	0	0	13549	681	24	5	3691	5	RPGRIP1	14	21813344	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1284463	21813344	85536196	896	37252											
CHD8	57680	broad.mit.edu	37	chr14	21876666	21876666	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcaagaaggcaatggaCtgaatagttttgcccaatcc	9	10	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:21876666C>T	uc001was.1	-	13	1792	c.1698G>A	c.(1696-1698)CAG>CAA	p.Q566Q	CHD8_uc001war.1_Silent_p.Q462Q|CHD8_uc001wav.1_Silent_p.Q8Q	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	845	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGGCAATGGACTGAATAGTTT	0.418													T	21876666	C	T	21876666	2	4	45	1	0	0	0	0	0	0	0	1	3331	564	20	4		4	CHD8	14	21876666	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	63322	21876666	85472874	897	37253											
RBM23	55147	broad.mit.edu	37	chr14	23374320	23374320	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtgaagcctgtacaaTgataggcactcccagcaacc	8	14	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:23374320T>C	uc001whg.2	-	8	908	c.709A>G	c.(709-711)ATT>GTT	p.I237V	RBM23_uc001whh.2_Missense_Mutation_p.I221V|RBM23_uc001whi.2_Missense_Mutation_p.I203V|RBM23_uc010tne.1_Missense_Mutation_p.I67V|RBM23_uc001whj.2_5'UTR|RBM23_uc001whk.1_Missense_Mutation_p.I237V	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	RNA binding motif protein 23 isoform 1	237	RRM 1.				mRNA processing	nucleus	nucleotide binding|RNA binding			skin(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GCCTGTACAATGATAGGCACT	0.527													C	23374320	T	C	23374320	3	2	45	1	0	0	0	0	1	0	0	0	13123	1464	51	3	638	3	RBM23	14	23374320	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1497654	23374320	83975220	898	37254											
HAUS4	54930	broad.mit.edu	37	chr14	23416890	23416890	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcggattgagtcttcagCcggtgttcttgaagaagcct	12	9	3	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:23416890C>T	uc001whp.2	-	7	790	c.759G>A	c.(757-759)CGG>CGA	p.R253R	HAUS4_uc001who.2_RNA|HAUS4_uc001whq.2_Silent_p.R127R|HAUS4_uc001whr.2_Silent_p.R253R|HAUS4_uc001whs.2_Silent_p.R208R|HAUS4_uc001wht.2_Silent_p.R253R|HAUS4_uc001whu.2_Silent_p.R208R|HAUS4_uc001whv.2_Silent_p.R129R|HAUS4_uc001whw.2_Silent_p.R253R|HAUS4_uc001whx.2_Silent_p.R208R	NM_017815	NP_060285	Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	253					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				ovary(1)	1						GAGTCTTCAGCCGGTGTTCTT	0.517													T	23416890	C	T	23416890	2	4	45	1	0	0	0	0	0	0	0	1	6968	726	26	2		2	HAUS4	14	23416890	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	42570	23416890	83932650	899	37255											
MYH7	4625	broad.mit.edu	37	chr14	23897852	23897852	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcttctcgttggtgaagtTgatgcagagctgctcaaagc	12	9	2	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:23897852T>C	uc001wjx.2	-	15	1541	c.1435A>G	c.(1435-1437)AAC>GAC	p.N479D		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	479	Myosin head-like.		N -> S (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTGGTGAAGTTGATGCAGAGC	0.547													C	23897852	T	C	23897852	3	2	45	1	0	0	0	0	1	0	0	0	10039	1812	63	3	4476	3	MYH7	14	23897852	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	480962	23897852	83451688	900	37256											
IRF9	10379	broad.mit.edu	37	chr14	24635084	24635084	+	Frame_Shift_Del	DEL	C	C	-													aggtactttcagggcctgggCcccccaccgaagttccaggt							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:24635083_24635083GC>G	uc001wmq.3	+	7	1839	c.1019_1019GC>G	c.(1018-1020)ggcfs	p.G340fs	RNF31_uc001wmp.3_Non-coding_Transcript|IRF9_uc010alj.3_Frame_Shift_Del_p.G124fs	NM_006084	NP_006075	Q00978	IRF9_HUMAN	Homo sapiens interferon regulatory factor 9 (IRF9), mRNA.	340					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CAGGGCCTGGGCCCCCCACCG	0.522													-	24635084	C	-	24635084	7	5	45	1	0	1	0	1	0	0	0	0	7837	726	26	0	1046	0	IRF9	14	24635084	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	737232	24635084	82714456	901	37257											
GMPR2	51292	broad.mit.edu	37	chr14	24707977	24707977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatccaatcttcagtgaggCgtgctagacctgagcagttc	11	10	2	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:24707977C>T	uc001wnr.2	+	10	1422	c.1040C>T	c.(1039-1041)GCG>GTG	p.A347V	GMPR2_uc001wnv.2_Missense_Mutation_p.A184V|GMPR2_uc001wns.2_Missense_Mutation_p.A347V|GMPR2_uc001wnt.2_Missense_Mutation_p.A314V|GMPR2_uc001wnu.2_Missense_Mutation_p.A372V|GMPR2_uc001wnw.2_Missense_Mutation_p.A347V|GMPR2_uc010all.2_Missense_Mutation_p.A319V|GMPR2_uc001wnx.2_Missense_Mutation_p.A365V|GMPR2_uc010tod.1_Missense_Mutation_p.A314V|GMPR2_uc010alk.1_Missense_Mutation_p.A408V|GMPR2_uc010toe.1_Missense_Mutation_p.A408V	NM_001002001	NP_001002001	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2 isoform 2	347					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			ovary(3)	3				GBM - Glioblastoma multiforme(265;0.0181)		TTCAGTGAGGCGTGCTAGACC	0.542													T	24707977	C	T	24707977	3	4	45	1	0	0	0	0	1	0	0	0	6497	768	27	1	1128	1	GMPR2	14	24707977	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	72893	24707977	82641563	902	37258											
CIDEB	27141	broad.mit.edu	37	chr14	24774855	24774855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccttagtaggaatggaggCggcccttctgctgccactgc	12	14	1	0	rs146066890		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:24774855C>T	uc001won.2	-	5	768	c.644G>A	c.(643-645)CGC>CAC	p.R215H	CIDEB_uc001woo.2_Missense_Mutation_p.R215H|CIDEB_uc001wop.2_Missense_Mutation_p.R215H	NM_014430	NP_055245	Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	215					apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis	cytosol					0				GBM - Glioblastoma multiforme(265;0.0181)		GGAATGGAGGCGGCCCTTCTG	0.562													T	24774855	C	T	24774855	3	4	45	1	0	0	0	0	1	0	0	0	3426	768	27	1	19	1	CIDEB	14	24774855	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	66878	24774855	82574685	903	37259											
CBLN3	643866	broad.mit.edu	37	chr14	24897594	24897594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcccggtcaaagccaccGccctcgttcaccaggacctg	11	17	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:24897594G>A	uc001wpg.3	-	2	789	c.318C>T	c.(316-318)GGC>GGT	p.G106G	KHNYN_uc010tpc.1_5'Flank|KHNYN_uc001wph.3_5'Flank|KHNYN_uc010alw.2_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	106	Necessary for interaction with CBLN3, and homotrimerization (By similarity).|C1q.					cell junction|extracellular region|synapse				central_nervous_system(1)	1				GBM - Glioblastoma multiforme(265;0.00159)		CAAAGCCACCGCCCTCGTTCA	0.632													A	24897594	G	A	24897594	2	1	45	1	0	0	0	0	0	0	0	1	2706	1074	38	1		1	CBLN3	14	24897594	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	122739	24897594	82451946	904	37260											
AKAP6	9472	broad.mit.edu	37	chr14	33293172	33293172	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttccatcaaaaagatgcCgaagattgttcagtacacaa	7	8	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:33293172C>T	uc001wrq.2	+	13	6323	c.6153C>T	c.(6151-6153)GCC>GCT	p.A2051A		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	2051					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAAAAGATGCCGAAGATTGTT	0.418													T	33293172	C	T	33293172	2	4	45	1	0	0	0	0	0	0	0	1	455	639	23	1		1	AKAP6	14	33293172	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	8395578	33293172	74056368	905	37261											
KIAA0391	9692	broad.mit.edu	37	chr14	35593160	35593160	+	Frame_Shift_Del	DEL	A	A	-													tgttgctgttagaggacatcAaaaaagttataactccttca							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:35593159_35593159CA>C	uc001wsy.1	+	1	1068	c.708_708CA>C	c.(706-708)atcfs	p.I236fs	KIAA0391_uc010tps.1_Frame_Shift_Del_p.I141fs|KIAA0391_uc001wsz.1_Frame_Shift_Del_p.I236fs|KIAA0391_uc001wta.3_Non-coding_Transcript|KIAA0391_uc001wtc.1_Intron|PPP2R3C_uc001wss.3_5'Flank|PPP2R3C_uc001wst.3_5'Flank|PPP2R3C_uc010tpr.2_5'Flank|PPP2R3C_uc001wsu.3_5'Flank|PPP2R3C_uc010amn.1_5'Flank|PPP2R3C_uc001wsw.3_5'Flank|PPP2R3C_uc001wsx.1_5'Flank	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Homo sapiens KIAA0391 (KIAA0391), mRNA.	236					tRNA processing	mitochondrion		p.D235G(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		TAGAGGACATCAAAAAAGTTA	0.383													-	35593160	A	-	35593160	7	5	45	1	0	1	0	1	0	0	0	0	8172	131	5	0	711	0	KIAA0391	14	35593160	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	2299988	35593160	71756380	906	37262											
MIPOL1	145282	broad.mit.edu	37	chr14	37969313	37969313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcaacatgccagagaggCctcccaagtggccaatgaaa	9	12	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:37969313C>T	uc001wuc.2	+	13	1735	c.1232C>T	c.(1231-1233)GCC>GTC	p.A411V	MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.A380V|MIPOL1_uc001wud.2_Missense_Mutation_p.A411V|MIPOL1_uc010ams.2_Missense_Mutation_p.A411V|MIPOL1_uc001wue.2_Missense_Mutation_p.A380V|MIPOL1_uc010amt.2_Missense_Mutation_p.A230V	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	411	Potential.									ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		GCCAGAGAGGCCTCCCAAGTG	0.378													T	37969313	C	T	37969313	3	4	45	1	0	0	0	0	1	0	0	0	9593	739	26	2	1270	2	MIPOL1	14	37969313	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2376153	37969313	69380227	907	37263											
C14orf106	55320	broad.mit.edu	37	chr14	45693641	45693641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgacagtaagtaagtcacGttcatcgcaatcttccttgt	8	9	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:45693641G>A	uc001wwf.2	-	11	2608	c.2149C>T	c.(2149-2151)CGT>TGT	p.R717C		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	717					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						AGTAAGTCACGTTCATCGCAA	0.348													A	45693641	G	A	45693641	3	1	45	1	0	0	0	0	1	0	0	0	1738	1145	40	1	1277	1	C14orf106	14	45693641	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	7724328	45693641	61655899	908	37264											
MGAT2	4247	broad.mit.edu	37	chr14	50088877	50088877	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctggggacctatagtgccagTcgcagtttctatggcatggc	13	10	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:50088877T>A	uc001wwr.2	+	1	1389	c.891T>A	c.(889-891)AGT>AGA	p.S297R	SDCCAG1_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank	NM_002408	NP_002399	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein	297	Lumenal (Potential).				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity				0	all_epithelial(31;0.0021)|Breast(41;0.0124)					ATAGTGCCAGTCGCAGTTTCT	0.478													A	50088877	T	A	50088877	3	1	45	1	0	0	0	0	1	0	0	0	9543	1664	58	5	893	5	MGAT2	14	50088877	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	4395236	50088877	57260663	909	37265											
SDCCAG1	9147	broad.mit.edu	37	chr14	50267299	50267299	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgagctcctcatttagTtcatctctgccactctgaag	7	11	4	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:50267299T>C	uc001wxc.2	-	23	2279	c.2211A>G	c.(2209-2211)GAA>GAG	p.E737E	SDCCAG1_uc010anj.1_Silent_p.E737E|SDCCAG1_uc001wwz.2_5'Flank|SDCCAG1_uc001wxa.2_Silent_p.E17E|SDCCAG1_uc010tqi.1_Silent_p.E716E|SDCCAG1_uc001wxe.2_Silent_p.E695E|SDCCAG1_uc001wxd.1_Silent_p.E142E	NM_004713	NP_004704	O60524	NEMF_HUMAN	serologically defined colon cancer antigen 1	737						cytoplasm|nucleus					0	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)		CCTCATTTAGTTCATCTCTGC	0.418													C	50267299	T	C	50267299	2	2	45	1	0	0	0	0	0	0	0	1	13957	1722	60	3		3	SDCCAG1	14	50267299	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	178422	50267299	57082241	910	37266											
MAP4K5	11183	broad.mit.edu	37	chr14	50911877	50911877	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgatgctttttcttcatcCggaaagttgtcttcagggta	10	7	4	1	rs75696839	by1000genomes	TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:50911877C>T	uc001wya.2	-	18	1541	c.1221G>A	c.(1219-1221)CCG>CCA	p.P407P	MAP4K5_uc001wyb.2_Silent_p.P407P|MAP4K5_uc010anv.1_Silent_p.P407P|MAP4K5_uc001wyc.1_Silent_p.P81P	NM_006575	NP_006566	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase	407					activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(1)	1	all_epithelial(31;0.000415)|Breast(41;0.0102)					TTTCTTCATCCGGAAAGTTGT	0.418													T	50911877	C	T	50911877	2	4	45	1	0	0	0	0	0	0	0	1	9263	639	23	1		1	MAP4K5	14	50911877	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	644578	50911877	56437663	911	37267											
NIN	51199	broad.mit.edu	37	chr14	51237224	51237224	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggatctgctctctctctTttcggagttcattttttaag	8	9	4	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:51237224T>C	uc001wym.2	-	12	1507	c.1316A>G	c.(1315-1317)AAA>AGA	p.K439R	NIN_uc001wyi.2_Missense_Mutation_p.K439R|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.K439R|NIN_uc010tqp.1_Missense_Mutation_p.K445R|NIN_uc001wyo.2_Missense_Mutation_p.K439R|NIN_uc001wyp.1_Missense_Mutation_p.K401R	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	439	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					CTCTCTCTCTTTTCGGAGTTC	0.448			T	PDGFRB	MPD								C	51237224	T	C	51237224	3	2	45	1	0	0	0	0	1	0	0	0	10417	1841	64	3	5313	3	NIN	14	51237224	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	325347	51237224	56112316	912	37268											
CDKN3	1033	broad.mit.edu	37	chr14	54886793	54886793	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatcaagatctgtatcaagAtaaaggaattcaaatagcat	6	6	4	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:54886793A>G	uc001xap.2	+	8	750	c.636A>G	c.(634-636)AGA>AGG	p.R212R	CDKN3_uc001xar.2_Silent_p.R172R|CDKN3_uc001xaq.2_Silent_p.R211R|CDKN3_uc001xas.1_RNA|CDKN3_uc010aoj.1_RNA	NM_005192	NP_005183	Q16667	CDKN3_HUMAN	cyclin-dependent kinase inhibitor 3 isoform 1	212					cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0						CTGTATCAAGATAAAGGAATT	0.318													G	54886793	A	G	54886793	2	3	45	1	0	0	0	0	0	0	0	1	3167	330	12	3		3	CDKN3	14	54886793	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	3649569	54886793	52462747	913	37269											
DAAM1	23002	broad.mit.edu	37	chr14	59821946	59821946	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagcagttgctggaggtggTtttggcatttggaaattata	13	4	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:59821946T>C	uc001xdz.1	+	21	2575	c.2450T>C	c.(2449-2451)GTT>GCT	p.V817A	DAAM1_uc001xea.1_Missense_Mutation_p.V807A|DAAM1_uc001xec.1_RNA	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	817	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTGGAGGTGGTTTTGGCATTT	0.388													C	59821946	T	C	59821946	3	2	45	1	0	0	0	0	1	0	0	0	4215	1725	60	3	2528	3	DAAM1	14	59821946	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	4935153	59821946	47527594	914	37270											
C14orf135	64430	broad.mit.edu	37	chr14	60591389	60591389	+	Frame_Shift_Del	DEL	A	A	-													ttgatgatgagccaactatcAaaaaagtaatagaagaaaaa							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:60591388_60591388CA>C	uc001xer.4	+	7	2319	c.1797_1797CA>C	c.(1795-1797)atcfs	p.I599fs	C14orf135_uc001xeq.2_Frame_Shift_Del_p.I599fs|C14orf135_uc010apm.3_Non-coding_Transcript	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	833						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		AGCCAACTATCAAAAAAGTAA	0.348													-	60591389	A	-	60591389	7	5	45	1	0	1	0	1	0	0	0	0	1745	131	5	0	1824	0	C14orf135	14	60591389	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	769443	60591389	46758151	915	37271											
KCNH5	27133	broad.mit.edu	37	chr14	63269228	63269228	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaatcgaaaagcaggatgTtcattaaaaaccttccggtt	8	9	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:63269228T>G	uc001xfx.2	-	9	1692	c.1641A>C	c.(1639-1641)GAA>GAC	p.E547D	KCNH5_uc001xfy.2_Missense_Mutation_p.E547D|KCNH5_uc001xfz.1_Missense_Mutation_p.E489D	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	547	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AAGCAGGATGTTCATTAAAAA	0.488													G	63269228	T	G	63269228	3	3	45	1	0	0	0	0	1	0	0	0	8035	1722	60	5	1371	5	KCNH5	14	63269228	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	2677839	63269228	44080312	916	37272											
SYNE2	23224	broad.mit.edu	37	chr14	64519852	64519852	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtagtactaaaagctcctgAtagctctccggaaagcagac	9	10	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:64519852A>G	uc001xgm.2	+	48	9451	c.9221A>G	c.(9220-9222)GAT>GGT	p.D3074G	SYNE2_uc001xgl.2_Missense_Mutation_p.D3074G|SYNE2_uc010apw.1_5'Flank	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3074	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAAGCTCCTGATAGCTCTCCG	0.338													G	64519852	A	G	64519852	3	3	45	1	0	0	0	0	1	0	0	0	15443	333	12	3	9407	3	SYNE2	14	64519852	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	1250624	64519852	42829688	917	37273											
MTHFD1	4522	broad.mit.edu	37	chr14	64908801	64908801	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttgtccatgctggcccGtttgccaacatcgcacatgg	11	12	0	0	rs143959060	byFrequency	TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:64908801G>A	uc001xhb.2	+	20	2301	c.1914G>A	c.(1912-1914)CCG>CCA	p.P638P	MTHFD1_uc010aqf.2_Silent_p.P694P	NM_005956	NP_005947	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase 1	638	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	ATGCTGGCCCGTTTGCCAACA	0.512													A	64908801	G	A	64908801	2	1	45	1	0	0	0	0	0	0	0	1	9927	1132	40	1		1	MTHFD1	14	64908801	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	388949	64908801	42440739	918	37274											
ZFP36L1	677	broad.mit.edu	37	chr14	69256455	69256455	+	Frame_Shift_Del	DEL	C	C	-													ggaaggtggtcggggagccaCccccgggcagccccatgcta							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:69256454_69256454AC>A	uc021rve.1	-	2	1114	c.1020_1020GT>T	c.(1018-1020)ggtfs	p.G340fs	ZFP36L1_uc001xki.2_Frame_Shift_Del_p.G271fs|ZFP36L1_uc001xkh.2_Frame_Shift_Del_p.G271fs	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	271					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TCGGGGAGCCACCCCCGGGCA	0.637											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	69256455	C	-	69256455	7	5	45	1	0	1	0	1	0	0	0	0	17643	507	18	0	208	0	ZFP36L1	14	69256455	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	4347654	69256455	38093085	919	37275											
ACTN1	87	broad.mit.edu	37	chr14	69358883	69358883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctcctgcaccttgggcgGcttgtgcaggcgccggtagt	14	13	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:69358883G>A	uc001xkl.2	-	10	1283	c.973C>T	c.(973-975)CCG>TCG	p.P325S	ACTN1_uc010ttb.1_Missense_Mutation_p.P260S|ACTN1_uc001xkm.2_Missense_Mutation_p.P325S|ACTN1_uc001xkn.2_Missense_Mutation_p.P325S|ACTN1_uc001xko.1_Missense_Mutation_p.P260S|ACTN1_uc010ttd.1_Missense_Mutation_p.P304S	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	325	Spectrin 1.|Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ACCTTGGGCGGCTTGTGCAGG	0.627													A	69358883	G	A	69358883	3	1	45	1	0	0	0	0	1	0	0	0	204	1203	42	2	1823	2	ACTN1	14	69358883	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	102428	69358883	37990657	920	37276											
PCNX	22990	broad.mit.edu	37	chr14	71443908	71443908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggccgcgaggtgtaccacGgacttctagctctgctgtgg	14	13	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:71443908G>A	uc001xmo.2	+	6	1300	c.854G>A	c.(853-855)CGG>CAG	p.R285Q	PCNX_uc001xmn.3_Missense_Mutation_p.R285Q|PCNX_uc010are.1_Missense_Mutation_p.R285Q	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	285						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGTGTACCACGGACTTCTAGC	0.468													A	71443908	G	A	71443908	3	1	45	1	0	0	0	0	1	0	0	0	11591	1116	39	1	876	1	PCNX	14	71443908	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2085025	71443908	35905632	921	37277											
YLPM1	56252	broad.mit.edu	37	chr14	75230947	75230947	+	Frame_Shift_Del	DEL	C	C	-													agctccaccaccaccgtccgCcccccctggaaataagacaa							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:75230946_75230946GC>G	uc001xqj.4	+	0	878	c.754_754GC>G	c.(754-756)gccfs	p.A252fs		NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACCACCGTCCGCCCCCCCTGG	0.577													-	75230947	C	-	75230947	7	5	45	1	0	1	0	1	0	0	0	0	17483	739	26	0	757	0	YLPM1	14	75230947	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	3787039	75230947	32118593	922	37278											
FAM164C	79696	broad.mit.edu	37	chr14	75537988	75537988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattctcctgaggggaaagCtgaagaagacagaggaggaa	15	5	1	6			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:75537988C>T	uc001xri.2	+	2	885	c.712C>T	c.(712-714)CTG>TTG	p.L238L	FAM164C_uc001xrh.2_Silent_p.L238L	NM_001042430	NP_001035895	Q53FD0	F164C_HUMAN	chromosome 14 open reading frame 140 isoform b	238	Potential.									ovary(1)	1						GAGGGGAAAGCTGAAGAAGAC	0.498													T	75537988	C	T	75537988	2	4	45	1	0	0	0	0	0	0	0	1	5479	796	28	2		2	FAM164C	14	75537988	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	307041	75537988	31811552	923	37279											
VASH1	22846	broad.mit.edu	37	chr14	77242266	77242266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcatgcccaccctggagCgcttccccatcagcttcaag	8	17	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:77242266C>T	uc001xst.2	+	5	1492	c.562C>T	c.(562-564)CGC>TGC	p.R188C		NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	vasohibin 1	188					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		CACCCTGGAGCGCTTCCCCAT	0.632													T	77242266	C	T	77242266	3	4	45	1	0	0	0	0	1	0	0	0	17122	768	27	1	580	1	VASH1	14	77242266	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1704278	77242266	30107274	924	37280											
POMT2	29954	broad.mit.edu	37	chr14	77745128	77745128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggtggaagtagaggaccCggcccatcaggaaaaacggg	16	8	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:77745128C>T	uc001xti.2	-	19	2177	c.1976G>A	c.(1975-1977)CGG>CAG	p.R659Q	POMT2_uc001xth.1_Missense_Mutation_p.R357Q	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	659	Helical; (Potential).				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GTAGAGGACCCGGCCCATCAG	0.602													T	77745128	C	T	77745128	3	4	45	1	0	0	0	0	1	0	0	0	12246	652	23	1	288	1	POMT2	14	77745128	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	502862	77745128	29604412	925	37281											
CALM1	801	broad.mit.edu	37	chr14	90870757	90870757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcagtgcagcagaactacGtcacgtcatgacaaacttag	8	10	3	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:90870757G>A	uc001xyl.1	+	5	522	c.320G>A	c.(319-321)CGT>CAT	p.R107H	CALM1_uc010atq.1_Missense_Mutation_p.R108H|CALM1_uc010atr.1_RNA|CALM1_uc001xym.1_Missense_Mutation_p.R71H	NM_006888	NP_008819	P62158	CALM_HUMAN	calmodulin 1 isoform 1	107	EF-hand 3.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			central_nervous_system(1)	1		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	GCAGAACTACGTCACGTCATG	0.393													A	90870757	G	A	90870757	3	1	45	1	0	0	0	0	1	0	0	0	2584	1145	40	1	338	1	CALM1	14	90870757	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	13125629	90870757	16478783	926	37282											
GPR68	8111	broad.mit.edu	37	chr14	91700767	91700767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggctccggcgcacggcgcGcaggatgccctggtaggacg	18	13	0	0	rs146326486		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:91700767G>A	uc001xzg.2	-	2	969	c.628C>T	c.(628-630)CGC>TGC	p.R210C	GPR68_uc001xzh.2_Missense_Mutation_p.R220C	NM_003485	NP_003476	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	210	Cytoplasmic (Potential).				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)	1		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CGCACGGCGCGCAGGATGCCC	0.667													A	91700767	G	A	91700767	3	1	45	1	0	0	0	0	1	0	0	0	6707	1087	38	1	473	1	GPR68	14	91700767	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	830010	91700767	15648773	927	37283											
FAM181A	90050	broad.mit.edu	37	chr14	94394712	94394712	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaaggcagccctggataaGtccgcaccctgccgccgctc	10	17	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:94394712G>A	uc001ybz.1	+	3	574	c.267G>A	c.(265-267)AAG>AAA	p.K89K	C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Silent_p.K27K|FAM181A_uc001yca.1_Silent_p.K27K	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN	hypothetical protein LOC90050	89											0						CCCTGGATAAGTCCGCACCCT	0.622													A	94394712	G	A	94394712	2	1	45	1	0	0	0	0	0	0	0	1	5508	1020	36	4		4	FAM181A	14	94394712	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2693945	94394712	12954828	928	37284											
SERPINA9	327657	broad.mit.edu	37	chr14	94933480	94933480	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggctccactttctcagtgTtctggctgacaaggcctgtt	11	11	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:94933480T>C	uc001ydf.2	-	3	1083	c.922A>G	c.(922-924)ACA>GCA	p.T308A	SERPINA9_uc001yde.2_Missense_Mutation_p.T208A|SERPINA9_uc010avc.2_Missense_Mutation_p.T159A|SERPINA9_uc001ydg.2_Missense_Mutation_p.T272A|SERPINA9_uc001ydh.1_Missense_Mutation_p.T308A|SERPINA9_uc001ydi.1_Missense_Mutation_p.T272A	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	serine (or cysteine) proteinase inhibitor, clade	290					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			lung(1)|central_nervous_system(1)	2		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TTTCTCAGTGTTCTGGCTGAC	0.537													C	94933480	T	C	94933480	3	2	45	1	0	0	0	0	1	0	0	0	14095	1725	60	3	397	3	SERPINA9	14	94933480	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	538768	94933480	12416060	929	37285											
GSC	145258	broad.mit.edu	37	chr14	95234924	95234924	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccacttctccgcgttctcCgactcctctgatgaggaccg	8	16	3	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:95234924C>A	uc001ydu.2	-	3	825	c.678G>T	c.(676-678)TCG>TCT	p.S226S		NM_173849	NP_776248	P56915	GSC_HUMAN	goosecoid	226					gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		CCGCGTTCTCCGACTCCTCTG	0.562													A	95234924	C	A	95234924	2	1	45	1	0	0	0	0	0	0	0	1	6814	639	23	5		5	GSC	14	95234924	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	301444	95234924	12114616	930	37286											
KLC1	3831	broad.mit.edu	37	chr14	104135937	104135937	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcaaagatcatcctgcggTttgtatatccagttctttca	9	9	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:104135937T>G	uc001yno.2	+	6	1193	c.885_splice	c.e6+2	p.A295_splice	KLC1_uc010tyd.1_Splice_Site_p.A454_splice|KLC1_uc010tye.1_Splice_Site_p.A291_splice|KLC1_uc001ynm.1_Splice_Site_p.A295_splice|KLC1_uc001ynn.1_Splice_Site_p.A289_splice|KLC1_uc010tyf.1_Splice_Site_p.A295_splice	NM_182923	NP_891553	Q07866	KLC1_HUMAN	kinesin light chain 1 isoform 2						blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0		Melanoma(154;0.155)|all_epithelial(191;0.19)				CATCCTGCGGTTTGTATATCC	0.333													G	104135937	T	G	104135937	5	3	45	1	0	0	0	0	0	0	1	0	8333	1739	60	5	905	5	KLC1	14	104135937	Splice_Site	SNP	T	TCGA-BR-6852-01A-11D-1882-08	8901013	104135937	3213603	931	37287											
INF2	64423	broad.mit.edu	37	chr14	105169515	105169515	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgtgcatctactctccCgagggccacgtgctgaccct	10	17	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:105169515C>T	uc001ypb.2	+	3	608	c.465C>T	c.(463-465)CCC>CCT	p.P155P	INF2_uc010tyi.1_Silent_p.P155P|INF2_uc001ypc.2_Silent_p.P155P|INF2_uc001yoy.3_Silent_p.P155P|INF2_uc001ypa.2_Silent_p.P155P	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	155	GBD/FH3.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCTACTCTCCCGAGGGCCACG	0.657													T	105169515	C	T	105169515	2	4	45	1	0	0	0	0	0	0	0	1	7734	639	23	1		1	INF2	14	105169515	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1033578	105169515	2180025	932	37288											
AKT1	207	broad.mit.edu	37	chr14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgccaggtcttgatgtactCccctacagacgtgcgggtgg	13	13	1	2	rs34409589		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr14:105246551C>T	uc001ypk.2	-	3	603	c.49G>A	c.(49-51)GAG>AAG	p.E17K	INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Missense_Mutation_p.E17K|AKT1_uc010axa.2_Missense_Mutation_p.E17K|AKT1_uc001ypm.2_Missense_Mutation_p.E17K|AKT1_uc001ypn.2_Missense_Mutation_p.E17K|AKT1_uc010tyk.1_5'Flank	NM_005163	NP_005154	P31749	AKT1_HUMAN	AKT1 kinase	17	PH.		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).	E->K: Increase in basal ubiquitination, phosphorylation at T-308 and important increase in membrane recruitment. Decrease in ubiquitination, phosphorylation at T-308 as well as impaired association with the membrane; when associated with R-8.	activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	p.E17K(126)		breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	134		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		breast|colorectal|ovarian|NSCLC								T	105246551	C	T	105246551	3	4	45	1	0	0	0	0	1	0	0	0	478	864	30	4	1441	4	AKT1	14	105246551	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	77036	105246551	2102989	933	37289											
TUBGCP5	114791	broad.mit.edu	37	chr15	22863109	22863109	+	Frame_Shift_Del	DEL	A	A	-													ggaaatctcatgcaaactctAaaaaaagattacaggtaaaa							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:22863108_22863108TA>T	uc001yuq.2	+	14	2259	c.2129_2129TA>T	c.(2128-2130)ctafs	p.L710fs	TUBGCP5_uc001yur.4_Frame_Shift_Del_p.L710fs|TUBGCP5_uc010axz.1_Frame_Shift_Del_p.L297fs	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	710					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ATGCAAACTCTAAAAAAAGAT	0.323													-	22863109	A	-	22863109	7	5	45	1	0	1	0	1	0	0	0	0	16766	349	13	0	2188	0	TUBGCP5	15	22863109	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08		22863109	79668283	934	37290											
MAGEL2	54551	broad.mit.edu	37	chr15	23890069	23890069	+	Frame_Shift_Del	DEL	G	G	-													ctcccaaccactcaggccacGgggggtgtttgggtgctccc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:23890068_23890068CG>C	uc001ywj.4	-	0	2926	c.2822_2822CG>G	c.(2821-2823)cgtfs	p.R941fs		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		ACTCAGGCCACGGGGGGTGTT	0.657													-	23890069	G	-	23890069	7	5	45	1	0	1	0	1	0	0	0	0	9189	1116	39	0	932	0	MAGEL2	15	23890069	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	1026960	23890069	78641323	935	37291											
NDN	4692	broad.mit.edu	37	chr15	23931740	23931740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagcacgttccagacggCgctctctctggcgccgcggc	14	17	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:23931740C>T	uc001ywk.2	-	1	711	c.625G>A	c.(625-627)GCC>ACC	p.A209T		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	209	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TTCCAGACGGCGCTCTCTCTG	0.637									Prader-Willi_syndrome				T	23931740	C	T	23931740	3	4	45	1	0	0	0	0	1	0	0	0	10247	768	27	1	344	1	NDN	15	23931740	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	41671	23931740	78599652	936	37292											
C15orf2	23742	broad.mit.edu	37	chr15	24923868	24923868	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagagttaacatcaccaTatactgcattgggcacacct	7	11	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:24923868T>C	uc001ywo.2	+	1	3328	c.2854T>C	c.(2854-2856)TAT>CAT	p.Y952H		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	952					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AACATCACCATATACTGCATT	0.483													C	24923868	T	C	24923868	3	2	45	1	0	0	0	0	1	0	0	0	1784	1406	49	3	2856	3	C15orf2	15	24923868	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	992128	24923868	77607524	937	37293											
ATP10A	57194	broad.mit.edu	37	chr15	25926148	25926148	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggccaacttaccaggtaaGgaatggaaaagcaaaccagg	13	8	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:25926148G>T	uc010ayu.2	-	18	3672	c.3566C>A	c.(3565-3567)CCT>CAT	p.P1189H		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1189	Helical; (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TACCAGGTAAGGAATGGAAAA	0.527													T	25926148	G	T	25926148	3	4	45	1	0	0	0	0	1	0	0	0	1116	1000	35	5	949	5	ATP10A	15	25926148	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1002280	25926148	76605244	938	37294											
GABRB3	2562	broad.mit.edu	37	chr15	26866684	26866684	+	Splice_Site	DEL	G	G	-													catggttaaggtataatcctGgggggaaaagaaaagaaaga							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:26866683_26866683TG>T	uc001zbb.3	-	5	512	c.409_splice	c.e5-1	p.D137_splice	GABRB3_uc021sgg.1_Splice_Site_p.D10_splice|GABRB3_uc021sgh.1_Splice_Site|GABRB3_uc001zaz.3_Splice_Site_p.D81_splice|GABRB3_uc001zba.3_Splice_Site_p.D81_splice|GABRB3_uc001zbc.3_Splice_Site	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	81					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGTATAATCCTGGGGGGAAAA	0.443													-	26866684	G	-	26866684	8	5	45	1	0	1	0	1	0	0	1	0	6168	1363	47	0		0	GABRB3	15	26866684	Splice_Site	DEL	G	TCGA-BR-6852-01A-11D-1882-08	940536	26866684	75664708	939	37295											
SLC12A6	9990	broad.mit.edu	37	chr15	34543198	34543198	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agctgcctaagacatcagaaGatttggctgaaggcttttcg	11	8	1	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:34543198G>T	uc001zhw.2	-	10	1558	c.1394C>A	c.(1393-1395)TCT>TAT	p.S465Y	SLC12A6_uc001zhv.2_Missense_Mutation_p.S414Y|SLC12A6_uc001zhx.2_Missense_Mutation_p.S450Y|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.S406Y|SLC12A6_uc001zib.2_Missense_Mutation_p.S456Y|SLC12A6_uc001zic.2_Missense_Mutation_p.S465Y|SLC12A6_uc010bau.2_Missense_Mutation_p.S465Y|SLC12A6_uc001zid.2_Missense_Mutation_p.S406Y|SLC12A6_uc001zht.2_5'Flank|SLC12A6_uc001zhu.2_Missense_Mutation_p.S277Y	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	465	Cytoplasmic (Potential).				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GACATCAGAAGATTTGGCTGA	0.438													T	34543198	G	T	34543198	3	4	45	1	0	0	0	0	1	0	0	0	14387	942	33	5	2122	5	SLC12A6	15	34543198	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	7676514	34543198	67988194	940	37296											
THBS1	7057	broad.mit.edu	37	chr15	39874463	39874463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccgcaaggggtctgggcGccgactggtgaagggccccg	18	14	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:39874463G>A	uc001zkh.2	+	3	316	c.137G>A	c.(136-138)CGC>CAC	p.R46H		NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	46	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GGGTCTGGGCGCCGACTGGTG	0.597													A	39874463	G	A	39874463	3	1	45	1	0	0	0	0	1	0	0	0	15850	1087	38	1	143	1	THBS1	15	39874463	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	5331265	39874463	62656929	941	37297											
DISP2	85455	broad.mit.edu	37	chr15	40659686	40659686	+	Frame_Shift_Del	DEL	C	C	-													ctacctggaccggctggccaCcccctgggggcttgctgaca							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:40659685_40659685AC>A	uc001zlk.1	+	7	1461	c.1372_1372AC>A	c.(1372-1374)accfs	p.T458fs		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	458					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCGGCTGGCCACCCCCTGGGG	0.612													-	40659686	C	-	40659686	7	5	45	1	0	1	0	1	0	0	0	0	4540	507	18	0	1403	0	DISP2	15	40659686	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	785223	40659686	61871706	942	37298											
GCHFR	2644	broad.mit.edu	37	chr15	41059498	41059498	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggggcttccgtgtgctgaGcatgacgggggtgggccaga	19	9	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:41059498G>T	uc001zmr.1	+	3	300	c.206G>T	c.(205-207)AGC>ATC	p.S69I	GCHFR_uc010ucr.1_Missense_Mutation_p.S58I|C15orf62_uc010bby.2_5'Flank	NM_005258	NP_005249	P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulatory	69					negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane				ovary(1)	1		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CGTGTGCTGAGCATGACGGGG	0.602													T	41059498	G	T	41059498	3	4	45	1	0	0	0	0	1	0	0	0	6292	971	34	5	216	5	GCHFR	15	41059498	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	399812	41059498	61471894	943	37299											
VPS18	57617	broad.mit.edu	37	chr15	41192607	41192607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaccttcctcagcagccccCgccacaaagagtggctcttt	8	16	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:41192607C>T	uc001zne.2	+	4	1930	c.1591C>T	c.(1591-1593)CGC>TGC	p.R531C		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	531					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CAGCAGCCCCCGCCACAAAGA	0.587													T	41192607	C	T	41192607	3	4	45	1	0	0	0	0	1	0	0	0	17191	652	23	1	1605	1	VPS18	15	41192607	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	133109	41192607	61338785	944	37300											
RTF1	23168	broad.mit.edu	37	chr15	41769454	41769454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggcagaggccctggaccGccagcggaccaagaacatat	13	13	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:41769454G>A	uc001zny.2	+	13	1664	c.1652G>A	c.(1651-1653)CGC>CAC	p.R551H		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Paf1/RNA polymerase II complex component	551	Potential.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GCCCTGGACCGCCAGCGGACC	0.542													A	41769454	G	A	41769454	3	1	45	1	0	0	0	0	1	0	0	0	13721	1087	38	1	1702	1	RTF1	15	41769454	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	576847	41769454	60761938	945	37301											
MGA	23269	broad.mit.edu	37	chr15	42040995	42040995	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcggatggtcttgcagccTgttaggagtccaagtggaat	13	8	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:42040995T>C	uc010ucy.1	+	16	5554	c.5373T>C	c.(5371-5373)CCT>CCC	p.P1791P	MGA_uc010ucz.1_Silent_p.P1582P|MGA_uc010uda.1_Silent_p.P407P|MGA_uc001zoi.2_Silent_p.P5P	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCTTGCAGCCTGTTAGGAGTC	0.498													C	42040995	T	C	42040995	2	2	45	1	0	0	0	0	0	0	0	1	9540	1567	55	3		3	MGA	15	42040995	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	271541	42040995	60490397	946	37302											
MGA	23269	broad.mit.edu	37	chr15	42041014	42041014	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgttaggagtccaagtggaAtgaacttattcaggcaccct	10	9	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:42041014A>G	uc010ucy.1	+	16	5573	c.5392A>G	c.(5392-5394)ATG>GTG	p.M1798V	MGA_uc010ucz.1_Missense_Mutation_p.M1589V|MGA_uc010uda.1_Missense_Mutation_p.M414V|MGA_uc001zoi.2_Missense_Mutation_p.M12V	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCCAAGTGGAATGAACTTATT	0.493													G	42041014	A	G	42041014	3	3	45	1	0	0	0	0	1	0	0	0	9540	101	4	3	5450	3	MGA	15	42041014	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	19	42041014	60490378	947	37303											
MAPKBP1	23005	broad.mit.edu	37	chr15	42110261	42110261	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttaaagggtcacagggTgaggacggcacactcattaa	12	8	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:42110261T>C	uc001zok.3	+	18	2263	c.1977T>C	c.(1975-1977)GGT>GGC	p.G659G	MAPKBP1_uc001zoj.3_Silent_p.G653G|MAPKBP1_uc010bcj.2_Silent_p.G160G|MAPKBP1_uc010bci.2_Silent_p.G653G|MAPKBP1_uc010udb.1_Silent_p.G492G|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Silent_p.G160G	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	659	WD 11.									central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GGTCACAGGGTGAGGACGGCA	0.527													C	42110261	T	C	42110261	2	2	45	1	0	0	0	0	0	0	0	1	9292	1683	59	3		3	MAPKBP1	15	42110261	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	69247	42110261	60421131	948	37304											
PLA2G4D	283748	broad.mit.edu	37	chr15	42364044	42364044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaactcggagccgaagaGctcaggagggacgaaggccc	16	10	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:42364044G>A	uc001zox.2	-	15	1596	c.1501C>T	c.(1501-1503)CTC>TTC	p.L501F		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD	501	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			large_intestine(1)|skin(1)	2		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GAGCCGAAGAGCTCAGGAGGG	0.607													A	42364044	G	A	42364044	3	1	45	1	0	0	0	0	1	0	0	0	12004	971	34	2	979	2	PLA2G4D	15	42364044	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	253783	42364044	60167348	949	37305											
TMEM87A	25963	broad.mit.edu	37	chr15	42529648	42529648	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagattctcctttgtatcGgatattctgaaattccgcat	6	10	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:42529648G>A	uc010udd.1	-	9	1009	c.850C>T	c.(850-852)CGA>TGA	p.R284*	TMEM87A_uc001zpf.3_Nonsense_Mutation_p.R223*|TMEM87A_uc010bcu.1_Nonsense_Mutation_p.R223*	NM_015497	NP_056312	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A isoform 1	284						integral to membrane				ovary(1)	1		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		CCTTTGTATCGGATATTCTGA	0.418													A	42529648	G	A	42529648	4	1	45	1	0	0	0	0	0	1	0	0	16207	1124	39	1	865	1	TMEM87A	15	42529648	Nonsense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	165604	42529648	60001744	950	37306											
CDAN1	146059	broad.mit.edu	37	chr15	43025362	43025362	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtgatcttcccactctcGcagcacctcataaaacacat	5	14	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:43025362G>A	uc001zql.2	-	9	1507	c.1390C>T	c.(1390-1392)CGA>TGA	p.R464*	CDAN1_uc001zqj.2_5'Flank|CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_RNA	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	464						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TCCCACTCTCGCAGCACCTCA	0.547													A	43025362	G	A	43025362	4	1	45	1	0	0	0	0	0	1	0	0	3054	1095	38	1	2373	1	CDAN1	15	43025362	Nonsense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	495714	43025362	59506030	951	37307											
EPB42	2038	broad.mit.edu	37	chr15	43502556	43502556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacccaacacacgggccaCgtgcaccggctggctccact	11	18	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:43502556C>T	uc001zra.3	-	5	931	c.631G>A	c.(631-633)GTG>ATG	p.V211M	EPB42_uc001zqz.3_5'Flank|EPB42_uc010bde.2_Missense_Mutation_p.V56M|EPB42_uc001zrb.3_Missense_Mutation_p.V241M|EPB42_uc010udm.1_Missense_Mutation_p.V133M	NM_001114134	NP_001107606	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2 isoform 2	211					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			ovary(2)	2		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ACACGGGCCACGTGCACCGGC	0.597													T	43502556	C	T	43502556	3	4	45	1	0	0	0	0	1	0	0	0	5158	536	19	1	1480	1	EPB42	15	43502556	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	477194	43502556	59028836	952	37308											
ZSCAN29	146050	broad.mit.edu	37	chr15	43662097	43662097	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccattctctcttagagcTgatttggccatcattaatag	8	9	3	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:43662097T>C	uc001zrk.1	-	1	162	c.15A>G	c.(13-15)TCA>TCG	p.S5S	ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc010bdf.1_Silent_p.S4S|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Silent_p.S4S|ZSCAN29_uc001zrm.2_Silent_p.S4S|TUBGCP4_uc001zrn.2_5'Flank|TUBGCP4_uc001zro.2_5'Flank	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	zinc finger protein 690	5					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTCTTAGAGCTGATTTGGCCA	0.522													C	43662097	T	C	43662097	2	2	45	1	0	0	0	0	0	0	0	1	18233	1567	55	3		3	ZSCAN29	15	43662097	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	159541	43662097	58869295	953	37309											
MAP1A	4130	broad.mit.edu	37	chr15	43814941	43814941	+	Frame_Shift_Del	DEL	A	A	-													acaaggagaaaaaagagatcAaaaaggagaggaaagagctc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:43814941delA	uc001zrt.2	+	4	1737	c.1270delA	c.(1270-1272)AAAfs	p.K424fs		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	424	Lys-rich (basic).|9 X 3 AA repeats of K-K-[DE].			K -> P (in Ref. 1; AAB41132/AAB41133).		cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	aaaagagatcaaaaaggagag	0.174													-	43814941	A	-	43814941	7	5	45	1	0	1	0	1	0	0	0	0	9227	131	5	0	1272	0	MAP1A	15	43814941	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	152844	43814941	58716451	954	37310											
B2M	567	broad.mit.edu	37	chr15	45003781	45003782	+	Frame_Shift_Del	DEL	CT	CT	-													ccttagctgtgctcgcgctaCtctctctttctggcctggag					rs11553044		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:45003780_45003781ACT>A	uc001zuc.3	+	0	96_97	c.36_37ACT>A	c.(34-39)ctactcfs	p.L12fs	B2M_uc010uek.1_Frame_Shift_Del_p.L12fs|B2M_uc010bdx.1_Frame_Shift_Del_p.L12fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	12					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.L15fs*41(4)|p.A11fs*42(2)|p.L13F(2)|p.L12Q(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TGCTCGCGCTACTCTCTCTTTC	0.614													-	45003782	CT	-	45003781	7	5	45	1	0	1	0	1	0	0	0	0	1244	565	20	0	39	0	B2M	15	45003781	Frame_Shift_Del	DEL	CT	TCGA-BR-6852-01A-11D-1882-08	1188840	45003781	57527611	955	37311											
B2M	567	broad.mit.edu	37	chr15	45007851	45007851	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaaagatgagtatgccTgccgtgtgaaccatgtgact	11	8	0	5			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:45007851T>G	uc001zuc.2	+	2	358	c.298T>G	c.(298-300)TGC>GGC	p.C100G	B2M_uc010uek.1_Missense_Mutation_p.C100G|B2M_uc010bdx.1_Silent_p.P72P	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	100	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			ovary(2)|skin(1)	3		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TGAGTATGCCTGCCGTGTGAA	0.418													G	45007851	T	G	45007851	3	3	45	1	0	0	0	0	1	0	0	0	1244	1580	55	5	304	5	B2M	15	45007851	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	4070	45007851	57523541	956	37312											
SLC28A2	9153	broad.mit.edu	37	chr15	45556153	45556153	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccaaaggccagagcagcTgatcccctttgcaggaatct	10	13	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:45556153T>C	uc001zva.2	+	6	586	c.521T>C	c.(520-522)CTG>CCG	p.L174P		NM_004212	NP_004203	O43868	S28A2_HUMAN	solute carrier family 28 (sodium-coupled	174	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			ovary(4)	4		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		CCAGAGCAGCTGATCCCCTTT	0.498													C	45556153	T	C	45556153	3	2	45	1	0	0	0	0	1	0	0	0	14532	1580	55	3	539	3	SLC28A2	15	45556153	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	548302	45556153	56975239	957	37313											
SPATA5L1	79029	broad.mit.edu	37	chr15	45706832	45706832	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggcctgacacaaccaaagGgagttctcctctatgggccc	11	13	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:45706832G>T	uc001zve.2	+	4	1607	c.1498G>T	c.(1498-1500)GGA>TGA	p.G500*	SPATA5L1_uc001zvf.2_RNA	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	500						cytoplasm	ATP binding|nucleoside-triphosphatase activity			ovary(3)|skin(1)	4		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		ACAACCAAAGGGAGTTCTCCT	0.483													T	45706832	G	T	45706832	4	4	45	1	0	0	0	0	0	1	0	0	15011	1233	43	5	1512	5	SPATA5L1	15	45706832	Nonsense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	150679	45706832	56824560	958	37314											
FBN1	2200	broad.mit.edu	37	chr15	48773959	48773959	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaggcagatatttggattcAggtcacactcattgacatct	8	8	4	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:48773959A>G	uc001zwx.1	-	32	4185	c.3857T>C	c.(3856-3858)CTG>CCG	p.L1286P		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1286	EGF-like 21; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATTTGGATTCAGGTCACACTC	0.378													G	48773959	A	G	48773959	3	3	45	1	0	0	0	0	1	0	0	0	5702	188	7	3	4898	3	FBN1	15	48773959	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	3067127	48773959	53757433	959	37315											
GLDN	342035	broad.mit.edu	37	chr15	51634172	51634172	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaacaagcgcagccacagCggcgagcccgcgccgcatat	12	17	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:51634172C>T	uc002aba.2	+	1	460	c.291C>T	c.(289-291)AGC>AGT	p.S97S	GLDN_uc010bez.1_Silent_p.S97S	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	97	Extracellular (Potential).				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GCAGCCACAGCGGCGAGCCCG	0.701													T	51634172	C	T	51634172	2	4	45	1	0	0	0	0	0	0	0	1	6434	767	27	1		1	GLDN	15	51634172	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2860213	51634172	50897220	960	37316											
MAPK6	5597	broad.mit.edu	37	chr15	52356198	52356198	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagctctgtccgatgtcacTgatgaagaagaagtacaagt	11	7	2	5			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:52356198T>C	uc002abp.2	+	6	1961	c.1167T>C	c.(1165-1167)ACT>ACC	p.T389T		NM_002748	NP_002739	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	389					cell cycle		ATP binding|MAP kinase activity			lung(3)|ovary(1)	4				all cancers(107;0.0028)		CCGATGTCACTGATGAAGAAG	0.408													C	52356198	T	C	52356198	2	2	45	1	0	0	0	0	0	0	0	1	9281	1567	55	3		3	MAPK6	15	52356198	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	722026	52356198	50175194	961	37317											
MYO5C	55930	broad.mit.edu	37	chr15	52564028	52564028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatagaaaatgtggtaatttCgttcattttccgactgtaag	9	5	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:52564028C>T	uc010bff.2	-	7	901	c.764G>A	c.(763-765)CGA>CAA	p.R255Q	MYO5C_uc010uga.1_Intron|MYO5C_uc010ugb.1_RNA|MYO5C_uc010ugc.1_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	255	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		GTGGTAATTTCGTTCATTTTC	0.368													T	52564028	C	T	52564028	3	4	45	1	0	0	0	0	1	0	0	0	10080	884	31	1	4604	1	MYO5C	15	52564028	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	207830	52564028	49967364	962	37318											
SLTM	79811	broad.mit.edu	37	chr15	59182562	59182562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcctttcaatttctaggCgctctctctctctctgtaag	6	12	5	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:59182562C>T	uc002afp.2	-	15	2085	c.1997G>A	c.(1996-1998)CGC>CAC	p.R666H	SLTM_uc002afn.2_Missense_Mutation_p.R208H|SLTM_uc002afo.2_Missense_Mutation_p.R648H|SLTM_uc002afq.2_Missense_Mutation_p.R235H|SLTM_uc010bgd.2_Missense_Mutation_p.R235H	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	666	Arg/Glu-rich.|Potential.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						AATTTCTAGGCGCTCTCTCTC	0.468													T	59182562	C	T	59182562	3	4	45	1	0	0	0	0	1	0	0	0	14754	768	27	1	1135	1	SLTM	15	59182562	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	6618534	59182562	43348830	963	37319											
ZNF609	23060	broad.mit.edu	37	chr15	64967127	64967127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcttgaccgccacagtgGcacaagccatgcccaacagt	10	15	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:64967127G>A	uc002ann.2	+	4	2074	c.2074G>A	c.(2074-2076)GCA>ACA	p.A692T		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	692						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CGCCACAGTGGCACAAGCCAT	0.582													A	64967127	G	A	64967127	3	1	45	1	0	0	0	0	1	0	0	0	18032	1203	42	2	2088	2	ZNF609	15	64967127	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	5784565	64967127	37564265	964	37320											
RPL4	6124	broad.mit.edu	37	chr15	66792468	66792468	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcttcaacatgattctcaAgtttttcagtgggttcttct	7	8	5	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:66792468A>G	uc002apv.2	-	9	1020	c.964T>C	c.(964-966)TTG>CTG	p.L322L	SNAPC5_uc002apu.1_5'Flank|RPL4_uc010bhr.2_Silent_p.L228L|RPL4_uc002apw.2_Silent_p.L228L|RPL4_uc002apx.2_Silent_p.L228L	NM_000968	NP_000959	P36578	RL4_HUMAN	ribosomal protein L4	322					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0						ATGATTCTCAAGTTTTTCAGT	0.373													G	66792468	A	G	66792468	2	3	45	1	0	0	0	0	0	0	0	1	13595	69	3	3		3	RPL4	15	66792468	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	1825341	66792468	35738924	965	37321											
LBXCOR1	390598	broad.mit.edu	37	chr15	68118334	68118334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgcgagggcagttcctcGcccaactccaagcaggagct	14	14	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:68118334G>A	uc002aqy.1	+	2	141	c.141G>A	c.(139-141)TCG>TCA	p.S47S		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	56					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0						GCAGTTCCTCGCCCAACTCCA	0.637													A	68118334	G	A	68118334	2	1	45	1	0	0	0	0	0	0	0	1	8655	1074	38	1		1	LBXCOR1	15	68118334	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1325866	68118334	34413058	966	37322											
CORO2B	10391	broad.mit.edu	37	chr15	68987583	68987583	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatcattgcctcgtgctcGgaggacacgtcggtgagcag	13	11	1	1	rs140380181		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:68987583G>A	uc002arj.3	+	3	350	c.321G>A	c.(319-321)TCG>TCA	p.S107S	CORO2B_uc010bic.2_Silent_p.S102S	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	107	WD 1.				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			ovary(3)|skin(2)|large_intestine(1)	6						CCTCGTGCTCGGAGGACACGT	0.612													A	68987583	G	A	68987583	2	1	45	1	0	0	0	0	0	0	0	1	3757	1103	39	1		1	CORO2B	15	68987583	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	869249	68987583	33543809	967	37323											
SPESP1	246777	broad.mit.edu	37	chr15	69238906	69238906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagatcaaggagagtcacaGccttattaaaagtttattaa	8	5	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:69238906G>A	uc002arn.1	+	2	1161	c.1033G>A	c.(1033-1035)GCC>ACC	p.A345T	NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1 precursor	345					multicellular organismal development	acrosomal vesicle					0						GAGAGTCACAGCCttattaaa	0.269													A	69238906	G	A	69238906	3	1	45	1	0	0	0	0	1	0	0	0	15039	971	34	2	1039	2	SPESP1	15	69238906	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	251323	69238906	33292486	968	37324											
UACA	55075	broad.mit.edu	37	chr15	70960670	70960670	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcattttccagtagcaAtttctccatttccaacttct	4	12	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:70960670A>T	uc002asr.2	-	16	2457	c.2353T>A	c.(2353-2355)TTG>ATG	p.L785M	UACA_uc010uke.1_Missense_Mutation_p.L676M|UACA_uc002asq.2_Missense_Mutation_p.L772M|UACA_uc010bin.1_Missense_Mutation_p.L760M	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	785	Potential.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						TCCAGTAGCAATTTCTCCATT	0.333													T	70960670	A	T	70960670	3	4	45	1	0	0	0	0	1	0	0	0	16821	98	4	5	1913	5	UACA	15	70960670	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	1721764	70960670	31570722	969	37325											
THSD4	79875	broad.mit.edu	37	chr15	72057527	72057527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagccaaatggtttagcaccGaatggagcatggtaagtcat	12	7	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:72057527G>A	uc002atb.1	+	15	2837	c.2758G>A	c.(2758-2760)GAA>AAA	p.E920K	THSD4_uc002ate.2_Missense_Mutation_p.E560K|THSD4_uc002atg.1_Missense_Mutation_p.E123K	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	920	TSP type-1 6.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						GTTTAGCACCGAATGGAGCAT	0.547													A	72057527	G	A	72057527	3	1	45	1	0	0	0	0	1	0	0	0	15875	1059	37	1	2816	1	THSD4	15	72057527	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1096857	72057527	30473865	970	37326											
CSPG4	1464	broad.mit.edu	37	chr15	75979694	75979694	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgccggaccagcttcagtgGggccagtgggccctctaggg	17	12	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:75979694G>T	uc002baw.2	-	3	3805	c.3712C>A	c.(3712-3714)CCA>ACA	p.P1238T		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1238	Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						AGCTTCAGTGGGGCCAGTGGG	0.622													T	75979694	G	T	75979694	3	4	45	1	0	0	0	0	1	0	0	0	3960	1232	43	5	3288	5	CSPG4	15	75979694	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	3922167	75979694	26551698	971	37327											
PSTPIP1	9051	broad.mit.edu	37	chr15	77328231	77328231	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagatacagggaaacccggcCtcaccagcccaggagtaccg	12	14	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:77328231C>A	uc002bcf.2	+	14	1524	c.1074C>A	c.(1072-1074)GCC>GCA	p.A358A	PSTPIP1_uc010bkt.1_RNA|PSTPIP1_uc010bku.1_Silent_p.A349A|PSTPIP1_uc002bcg.2_Silent_p.A355A|PSTPIP1_uc010bkw.1_Silent_p.A339A|PSTPIP1_uc002bch.1_Silent_p.A119A|PSTPIP1_uc002bci.1_RNA	NM_003978	NP_003969	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting	358					cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			ovary(1)	1						GAAACCCGGCCTCACCAGCCC	0.622													A	77328231	C	A	77328231	2	1	45	1	0	0	0	0	0	0	0	1	12721	668	24	5		5	PSTPIP1	15	77328231	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1348537	77328231	25203161	972	37328											
LINGO1	84894	broad.mit.edu	37	chr15	77907861	77907861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcgggatgagcttcaggcGgttgctgcggagacccagcg	17	10	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:77907861G>A	uc002bct.1	-	2	440	c.388C>T	c.(388-390)CGC>TGC	p.R130C	LINGO1_uc002bcu.1_Missense_Mutation_p.R124C	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	130	Extracellular (Potential).|LRR 3.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2						AGCTTCAGGCGGTTGCTGCGG	0.587													A	77907861	G	A	77907861	3	1	45	1	0	0	0	0	1	0	0	0	8814	1116	39	1	1478	1	LINGO1	15	77907861	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	579630	77907861	24623531	973	37329											
C15orf26	161502	broad.mit.edu	37	chr15	81428869	81428869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattgtagatgcaactttccGtaactgaagatggctatatt	8	6	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:81428869G>A	uc002bgb.2	+	3	199	c.172G>A	c.(172-174)GTA>ATA	p.V58I	C15orf26_uc010blp.1_Missense_Mutation_p.V33I	NM_173528	NP_775799	Q6P656	CO026_HUMAN	hypothetical protein LOC161502	58											0						GCAACTTTCCGTAACTGAAGA	0.408													A	81428869	G	A	81428869	3	1	45	1	0	0	0	0	1	0	0	0	1787	1145	40	1	182	1	C15orf26	15	81428869	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	3521008	81428869	21102523	974	37330											
IL16	3603	broad.mit.edu	37	chr15	81592469	81592469	+	Frame_Shift_Del	DEL	C	C	-													cagcccaatcagaaaactctCccccctggcccggacccgct							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:81592468_81592468TC>T	uc021ssh.1	+	12	2902	c.2801_2801TC>T	c.(2800-2802)ctcfs	p.L934fs	IL16_uc010blq.1_Frame_Shift_Del_p.L888fs|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Frame_Shift_Del_p.L976fs|IL16_uc002bgg.3_Frame_Shift_Del_p.L934fs|IL16_uc002bgi.1_Frame_Shift_Del_p.L324fs|IL16_uc002bgj.3_Frame_Shift_Del_p.L428fs|IL16_uc021ssi.1_Frame_Shift_Del_p.L233fs|IL16_uc002bgl.1_Frame_Shift_Del_p.L233fs|IL16_uc010unq.1_Frame_Shift_Del_p.L233fs	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	934				L -> F (in Ref. 1; AAD04636).	immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CAGAAAACTCTCCCCCCTGGC	0.642													-	81592469	C	-	81592469	7	5	45	1	0	1	0	1	0	0	0	0	7633	842	30	0	2852	0	IL16	15	81592469	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	163600	81592469	20938923	975	37331											
C15orf42	90381	broad.mit.edu	37	chr15	90159667	90159667	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgactaagagtgtggcCgagactccagtgcataagca	12	10	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:90159667C>T	uc002boe.2	+	16	2901	c.2901C>T	c.(2899-2901)GCC>GCT	p.A967A		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	967					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			AGAGTGTGGCCGAGACTCCAG	0.453													T	90159667	C	T	90159667	2	4	45	1	0	0	0	0	0	0	0	1	1796	639	23	1		1	C15orf42	15	90159667	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	8567198	90159667	12371725	976	37332											
PRC1	9055	broad.mit.edu	37	chr15	91527257	91527257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccacggacctgaaatggCtcaacatgtaactcgctgca	9	13	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:91527257C>T	uc002bqm.2	-	3	415	c.258G>A	c.(256-258)GAG>GAA	p.E86E	PRC1_uc002bqn.2_Silent_p.E86E|PRC1_uc002bqo.2_Silent_p.E86E|PRC1_uc010uqs.1_Intron|PRC1_uc010uqt.1_Silent_p.E34E	NM_003981	NP_003972	O43663	PRC1_HUMAN	protein regulator of cytokinesis 1 isoform 1	86	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			ovary(1)|skin(1)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)					CCTGAAATGGCTCAACATGTA	0.507													T	91527257	C	T	91527257	2	4	45	1	0	0	0	0	0	0	0	1	12446	796	28	2		2	PRC1	15	91527257	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1367590	91527257	11004135	977	37333											
SLCO3A1	28232	broad.mit.edu	37	chr15	92706126	92706126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatgtcagcatcgccatcGcgctcaaatccttcgccttc	7	15	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:92706126G>A	uc002bqx.2	+	10	2095	c.1894G>A	c.(1894-1896)GCG>ACG	p.A632T	SLCO3A1_uc002bqy.2_Missense_Mutation_p.A632T|SLCO3A1_uc002bqz.1_Missense_Mutation_p.A574T	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	632	Helical; Name=12; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			skin(1)	1	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CATCGCCATCGCGCTCAAATC	0.557													A	92706126	G	A	92706126	3	1	45	1	0	0	0	0	1	0	0	0	14728	1087	38	1	1932	1	SLCO3A1	15	92706126	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1178869	92706126	9825266	978	37334											
MCTP2	55784	broad.mit.edu	37	chr15	94901754	94901754	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagtggcaggaacagtttgActttcactacttctctgaca	9	10	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:94901754A>T	uc002btj.2	+	9	1279	c.1214A>T	c.(1213-1215)GAC>GTC	p.D405V	MCTP2_uc010urg.1_Intron|MCTP2_uc002bti.2_Missense_Mutation_p.D405V|MCTP2_uc010boj.2_Missense_Mutation_p.D134V|MCTP2_uc010bok.2_Missense_Mutation_p.D405V|MCTP2_uc002btk.3_Intron|MCTP2_uc002btl.2_Intron	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	405	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GAACAGTTTGACTTTCACTAC	0.418													T	94901754	A	T	94901754	3	4	45	1	0	0	0	0	1	0	0	0	9401	275	10	5	1248	5	MCTP2	15	94901754	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	2195628	94901754	7629638	979	37335											
IGF1R	3480	broad.mit.edu	37	chr15	99454553	99454553	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgccccaggtgaaagtgAcgtcctgcatttcacctcca	8	14	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr15:99454553A>G	uc002bul.2	+	7	1522	c.1472A>G	c.(1471-1473)GAC>GGC	p.D491G	IGF1R_uc010urq.1_Missense_Mutation_p.D491G|IGF1R_uc010bon.2_Missense_Mutation_p.D491G|IGF1R_uc010urr.1_5'UTR	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	491	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GGTGAAAGTGACGTCCTGCAT	0.537													G	99454553	A	G	99454553	3	3	45	1	0	0	0	0	1	0	0	0	7571	275	10	3	1498	3	IGF1R	15	99454553	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	4552799	99454553	3076839	980	37336											
POLR3K	51728	broad.mit.edu	37	chr16	97531	97531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagctgcatgaagtaagcacGaggatgttcgcatttgggac	13	7	0	1	rs144406744	byFrequency	TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:97531G>A	uc002cfi.1	-	3	265	c.226C>T	c.(226-228)CGT>TGT	p.R76C		NM_016310	NP_057394	Q9Y2Y1	RPC10_HUMAN	DNA directed RNA polymerase III polypeptide K	76	TFIIS-type.				innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding				0		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				AAGTAAGCACGAGGATGTTCG	0.468													A	97531	G	A	97531	3	1	45	1	0	0	0	0	1	0	0	0	12237	1058	37	1	104	1	POLR3K	16	97531	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08		97531	90257222	981	37337											
MRPL28	10573	broad.mit.edu	37	chr16	419103	419103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcgagcccataagcctcatCgatgaggtccagggtccgca	12	13	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:419103C>T	uc002cgr.1	-	2	422	c.406G>A	c.(406-408)GAT>AAT	p.D136N	MRPL28_uc010bqu.1_Missense_Mutation_p.D136N|MRPL28_uc002cgs.1_Missense_Mutation_p.D136N|MRPL28_uc002cgt.1_Missense_Mutation_p.D136N	NM_006428	NP_006419	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28 precursor	136					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				TAAGCCTCATCGATGAGGTCC	0.562													T	419103	C	T	419103	3	4	45	1	0	0	0	0	1	0	0	0	9792	884	31	1	380	1	MRPL28	16	419103	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	321572	419103	89935650	982	37338											
NARFL	64428	broad.mit.edu	37	chr16	780438	780438	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccaccggatgcccaggccAgtgctggccttctccacggc	11	17	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:780438A>G	uc002cjr.2	-	11	1422	c.1410T>C	c.(1408-1410)ACT>ACC	p.T470T	NARFL_uc002cjp.2_Silent_p.T368T|NARFL_uc002cjq.2_Silent_p.T368T|NARFL_uc002cjs.2_Silent_p.T252T	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	470					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding				0		Hepatocellular(780;0.0218)				TGCCCAGGCCAGTGCTGGCCT	0.642													G	780438	A	G	780438	2	3	45	1	0	0	0	0	0	0	0	1	10168	175	7	3		3	NARFL	16	780438	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	361335	780438	89574315	983	37339											
CRAMP1L	57585	broad.mit.edu	37	chr16	1705981	1705981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagaactgtacactgacacCgctgccgggcgtggctcgcg	14	14	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:1705981C>T	uc010uvh.1	+	9	1223	c.1223C>T	c.(1222-1224)CCG>CTG	p.P408L	CRAMP1L_uc002cmf.2_Intron	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	408						nucleus	DNA binding				0						ACACTGACACCGCTGCCGGGC	0.642													T	1705981	C	T	1705981	3	4	45	1	0	0	0	0	1	0	0	0	3846	652	23	1	1257	1	CRAMP1L	16	1705981	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	925543	1705981	88648772	984	37340											
CEMP1	752014	broad.mit.edu	37	chr16	2581057	2581057	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcccagcttgctggctgtcAgtgcttgatgtgcccatcct	11	13	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:2581057A>G	uc002cqr.2	-	1	374	c.18T>C	c.(16-18)ACT>ACC	p.T6T		NM_001048212	NP_001041677	Q6PRD7	CEMP1_HUMAN	cementum protein 1	6						cytoplasm				skin(1)	1						GCTGGCTGTCAGTGCTTGATG	0.617													G	2581057	A	G	2581057	2	3	45	1	0	0	0	0	0	0	0	1	3224	175	7	3		3	CEMP1	16	2581057	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	875076	2581057	87773696	985	37341											
ZNF200	7752	broad.mit.edu	37	chr16	3274246	3274246	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgattacagtcatagggTttttctccagtgtgggtcct	11	8	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:3274246T>G	uc002cuj.2	-	5	1466	c.834A>C	c.(832-834)AAA>AAC	p.K278N	ZNF200_uc002cum.3_Missense_Mutation_p.K277N|ZNF200_uc010bti.2_Missense_Mutation_p.K277N|ZNF200_uc002cuk.2_Missense_Mutation_p.K278N|ZNF200_uc002cui.2_Missense_Mutation_p.K277N|ZNF200_uc002cul.3_Missense_Mutation_p.K277N	NM_003454	NP_003445	P98182	ZN200_HUMAN	zinc finger protein 200 isoform 1	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						AGTCATAGGGTTTTTCTCCAG	0.418													G	3274246	T	G	3274246	3	3	45	1	0	0	0	0	1	0	0	0	17759	1722	60	5	357	5	ZNF200	16	3274246	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	693189	3274246	87080507	986	37342											
TIGD7	91151	broad.mit.edu	37	chr16	3350127	3350127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtttctcctctttgattAtcatggacagtttttgtcga	7	8	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:3350127A>G	uc002cus.2	-	1	1274	c.488T>C	c.(487-489)ATA>ACA	p.I163T	ZNF263_uc002cur.2_3'UTR|TIGD7_uc010btj.1_RNA	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	163					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						CTCTTTGATTATCATGGACAG	0.269													G	3350127	A	G	3350127	3	3	45	1	0	0	0	0	1	0	0	0	15898	449	16	3	1165	3	TIGD7	16	3350127	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	75881	3350127	87004626	987	37343											
NLRC3	197358	broad.mit.edu	37	chr16	3614999	3614999	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccgtaccgtggccctgGccggcctccctgcccgtccg	13	20	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:3614999G>A	uc010btn.2	-	4	450	c.39C>T	c.(37-39)GGC>GGT	p.G13G		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	13					I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						CGTGGCCCTGGCCGGCCTCCC	0.687													A	3614999	G	A	3614999	2	1	45	1	0	0	0	0	0	0	0	1	10468	1190	42	2		2	NLRC3	16	3614999	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	264872	3614999	86739754	988	37344											
C16orf71	146562	broad.mit.edu	37	chr16	4786531	4786531	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcatggcatccaacgatAaaggcatggcaccctcgctg	9	15	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:4786531A>G	uc002cxn.2	+	2	478	c.16A>G	c.(16-18)AAA>GAA	p.K6E	ANKS3_uc002cxj.1_5'Flank|ANKS3_uc002cxk.2_5'Flank|ANKS3_uc002cxl.2_5'Flank|ANKS3_uc010uxs.1_5'Flank|ANKS3_uc002cxm.2_5'Flank	NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	hypothetical protein LOC146562	6										central_nervous_system(1)	1						ATCCAACGATAAAGGCATGGC	0.617													G	4786531	A	G	4786531	3	3	45	1	0	0	0	0	1	0	0	0	1830	363	13	3	18	3	C16orf71	16	4786531	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	1171532	4786531	85568222	989	37345											
PPL	5493	broad.mit.edu	37	chr16	4944500	4944500	+	Frame_Shift_Del	DEL	G	G	-													gccagggcctcagggtctgtGggggggatcacaaaacacac							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:4944499_4944499TG>T	uc002cyd.1	-	11	1453	c.1363_1363CA>A	c.(1363-1365)acafs	p.T455fs		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	455					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.T455fs*4(2)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCAGGGTCTGTGGGGGGGATC	0.612													-	4944500	G	-	4944500	7	5	45	1	0	1	0	1	0	0	0	0	12334	1335	47	0	3952	0	PPL	16	4944500	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	157969	4944500	85410253	990	37346											
TEKT5	146279	broad.mit.edu	37	chr16	10788315	10788315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcctctggcccaggttcCggcaggtgccctcctgcatc	11	17	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:10788315C>T	uc002czz.1	-	1	488	c.416G>A	c.(415-417)CGG>CAG	p.R139Q		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	tektin 5	139	Potential.				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2						GCCCAGGTTCCGGCAGGTGCC	0.617													T	10788315	C	T	10788315	3	4	45	1	0	0	0	0	1	0	0	0	15753	652	23	1	1069	1	TEKT5	16	10788315	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	5843815	10788315	79566438	991	37347											
CLEC16A	23274	broad.mit.edu	37	chr16	11219940	11219940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcttctacgaccaggggCgccggggcagcagcgacccc	14	17	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:11219940C>T	uc002dao.2	+	22	2808	c.2578C>T	c.(2578-2580)CGC>TGC	p.R860C	CLEC16A_uc002dan.3_Missense_Mutation_p.R842C|CLEC16A_uc002dap.2_5'UTR	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	860										ovary(1)|central_nervous_system(1)	2						CGACCAGGGGCGCCGGGGCAG	0.667													T	11219940	C	T	11219940	3	4	45	1	0	0	0	0	1	0	0	0	3500	768	27	1	2660	1	CLEC16A	16	11219940	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	431625	11219940	79134813	992	37348											
TXNDC11	51061	broad.mit.edu	37	chr16	11785786	11785786	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtgttgcagcagggggaCgctgtgatcgttggcgggtc	18	8	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:11785786C>T	uc010buu.1	-	9	1403	c.1341G>A	c.(1339-1341)GCG>GCA	p.A447A	TXNDC11_uc002dbg.1_Silent_p.A420A	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	447					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						AGCAGGGGGACGCTGTGATCG	0.642													T	11785786	C	T	11785786	2	4	45	1	0	0	0	0	0	0	0	1	16789	523	19	1		1	TXNDC11	16	11785786	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	565846	11785786	78568967	993	37349											
RSL1D1	26156	broad.mit.edu	37	chr16	11931765	11931765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttttttggagtctgtctcGcatcttttttccccagcgaa	8	11	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:11931765G>A	uc002dbp.1	-	9	1425	c.1352C>T	c.(1351-1353)GCG>GTG	p.A451V	RSL1D1_uc010buv.1_Missense_Mutation_p.A450V|RSL1D1_uc010uyw.1_Missense_Mutation_p.A231V	NM_015659	NP_056474	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	451					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0						agtctgtctcgcatctttttt	0.179													A	11931765	G	A	11931765	3	1	45	1	0	0	0	0	1	0	0	0	13700	1087	38	1	124	1	RSL1D1	16	11931765	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	145979	11931765	78422988	994	37350											
LOC81691	81691	broad.mit.edu	37	chr16	20844363	20844363	+	Frame_Shift_Del	DEL	T	T	-													ttcagtgggtcagaagcttcTttttttgacccgggagacag							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:20844362_20844362CT>C	uc002dhy.4	+	12	1675	c.1300_1300CT>C	c.(1300-1302)cttfs	p.L434fs	ERI2_uc002dht.3_Intron|LOC81691_uc002dhv.3_Frame_Shift_Del_p.L434fs|LOC81691_uc002dhx.3_Frame_Shift_Del_p.L434fs	NM_001199053	NP_001185982	Q96IC2	REXON_HUMAN	Homo sapiens exonuclease NEF-sp (LOC81691), transcript variant 3, mRNA.	434						nucleolus	RNA binding|exonuclease activity|nucleotide binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|skin(1)	18						TCAGAAGCTTCTTTTTTTGAC	0.388													-	20844363	T	-	20844363	7	5	45	1	0	1	0	1	0	0	0	0	8890	1609	56	0	1347	0	LOC81691	16	20844363	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	8912598	20844363	69510390	995	37351											
CDR2	1039	broad.mit.edu	37	chr16	22359037	22359037	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctcagctgggcctgcAacattgtcactgtttttttc	9	12	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:22359037A>G	uc002dkn.2	-	5	922	c.614T>C	c.(613-615)TTG>TCG	p.L205S		NM_001802	NP_001793	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2	205	Potential.					nucleus	protein binding			skin(1)	1				GBM - Glioblastoma multiforme(48;0.0188)		CTGGGCCTGCAACATTGTCAC	0.512													G	22359037	A	G	22359037	3	3	45	1	0	0	0	0	1	0	0	0	3172	131	5	3	754	3	CDR2	16	22359037	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	1514674	22359037	67995716	996	37352											
HS3ST2	9956	broad.mit.edu	37	chr16	22825981	22825981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacctcagccgcggagggCgcgcaggctgctcttcgcct	14	17	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:22825981C>T	uc002dli.2	+	1	122	c.50C>T	c.(49-51)GCG>GTG	p.A17V	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	17	Cytoplasmic (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		CCGCGGAGGGCGCGCAGGCTG	0.706													T	22825981	C	T	22825981	3	4	45	1	0	0	0	0	1	0	0	0	7364	768	27	1	52	1	HS3ST2	16	22825981	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	466944	22825981	67528772	997	37353											
PALB2	79728	broad.mit.edu	37	chr16	23647028	23647028	+	Frame_Shift_Del	DEL	T	T	-													caggtgaagtaaatctaatgTtttttaggtcgtgagtagta							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:23647027_23647027GT>G	uc002dlx.1	-	3	1040	c.840_840AC>C	c.(838-840)aacfs	p.N280fs		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	280	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.K279K(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TAAATCTAATGTTTTTTAGGT	0.393			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					-	23647028	T	-	23647028	7	5	45	1	0	1	0	1	0	0	0	0	11406	1725	60	0	2761	0	PALB2	16	23647028	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	821047	23647028	66707725	998	37354											
PLK1	5347	broad.mit.edu	37	chr16	23695280	23695280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaacgagctgcttaatgaCgagttctttacttctggcta	8	8	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:23695280C>T	uc002dlz.1	+	5	959	c.906C>T	c.(904-906)GAC>GAT	p.D302D		NM_005030	NP_005021	P53350	PLK1_HUMAN	polo-like kinase 1	302	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			lung(1)|skin(1)	2				GBM - Glioblastoma multiforme(48;0.0156)		TGCTTAATGACGAGTTCTTTA	0.572													T	23695280	C	T	23695280	2	4	45	1	0	0	0	0	0	0	0	1	12094	535	19	1		1	PLK1	16	23695280	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	48252	23695280	66659473	999	37355											
CACNG3	10368	broad.mit.edu	37	chr16	24372780	24372780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggttggtccttttatttcGgagccttctctttcatcatc	7	10	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:24372780G>A	uc002dmf.2	+	4	1744	c.544G>A	c.(544-546)GGA>AGA	p.G182R		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	182	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0				GBM - Glioblastoma multiforme(48;0.0809)		CTTTTATTTCGGAGCCTTCTC	0.453													A	24372780	G	A	24372780	3	1	45	1	0	0	0	0	1	0	0	0	2558	1117	39	1	558	1	CACNG3	16	24372780	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	677500	24372780	65981973	1000	37356											
AQP8	343	broad.mit.edu	37	chr16	25232874	25232874	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactgggtctcacagctgctCggggggatgctcggggctgc	17	11	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:25232874C>T	uc002doc.2	+	3	439	c.357C>T	c.(355-357)CTC>CTT	p.L119L		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8	119	Helical; (Potential).				cellular response to cAMP	integral to plasma membrane	water channel activity			upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(48;0.044)		CACAGCTGCTCGGGGGGATGC	0.627													T	25232874	C	T	25232874	2	4	45	1	0	0	0	0	0	0	0	1	832	871	31	1		1	AQP8	16	25232874	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	860094	25232874	65121879	1001	37357											
NSMCE1	197370	broad.mit.edu	37	chr16	27237123	27237123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactggaagtacttggccacGcagggtaagtgcatcctgat	13	9	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:27237123G>A	uc002doi.1	-	7	743	c.645C>T	c.(643-645)TGC>TGT	p.C215C	NSMCE1_uc002doj.1_RNA	NM_145080	NP_659547	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog	215	NSE1-type.				DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding				0						ACTTGGCCACGCAGGGTAAGT	0.587													A	27237123	G	A	27237123	2	1	45	1	0	0	0	0	0	0	0	1	10675	1079	38	1		1	NSMCE1	16	27237123	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2004249	27237123	63117630	1002	37358											
IL27	246778	broad.mit.edu	37	chr16	28515117	28515117	+	Splice_Site	DEL	G	G	-													tggcaggtgagattccgcctGgggggcaaggtctgttagtg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:28515116_28515116TG>T	uc002dqc.3	-	3	228	c.205_splice	c.e3-1	p.A69_splice	NPIPL1_uc010vct.2_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	Homo sapiens interleukin 27 (IL27), mRNA.	69					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation|regulation of defense response to virus	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						AGATTCCGCCTGGGGGGCAAG	0.642													-	28515117	G	-	28515117	8	5	45	1	0	1	0	1	0	0	1	0	7680	1363	47	0		0	IL27	16	28515117	Splice_Site	DEL	G	TCGA-BR-6852-01A-11D-1882-08	1277994	28515117	61839636	1003	37359											
TUFM	7284	broad.mit.edu	37	chr16	28855798	28855798	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttctccaggtcccgggcGggcactgggatgtaagtgtc	16	11	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:28855798G>A	uc002drh.2	-	6	898	c.759C>T	c.(757-759)CCC>CCT	p.P253P	uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank	NM_003321	NP_003312	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	250						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			ovary(1)	1						GGTCCCGGGCGGGCACTGGGA	0.597													A	28855798	G	A	28855798	2	1	45	1	0	0	0	0	0	0	0	1	16768	1103	39	1		1	TUFM	16	28855798	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	340681	28855798	61498955	1004	37360											
SH2B1	25970	broad.mit.edu	37	chr16	28877939	28877939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcctgcagtggcgggggaCcgttgaccctccctcctccg	12	17	0	1	rs147094247	byFrequency	TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:28877939C>T	uc002dri.2	+	4	963	c.524C>T	c.(523-525)ACC>ATC	p.T175I	uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Missense_Mutation_p.T175I|SH2B1_uc002drk.2_Missense_Mutation_p.T175I|SH2B1_uc002drl.2_Missense_Mutation_p.T175I|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Missense_Mutation_p.T175I|SH2B1_uc002drm.2_Missense_Mutation_p.T175I	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	175	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2						TGGCGGGGGACCGTTGACCCT	0.647													T	28877939	C	T	28877939	3	4	45	1	0	0	0	0	1	0	0	0	14227	507	18	4	526	4	SH2B1	16	28877939	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	22141	28877939	61476814	1005	37361											
PPP4C	5531	broad.mit.edu	37	chr16	30096003	30096003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagacaccacaggctggggCgtgagcccccgaggagccgg	16	14	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:30096003C>T	uc002dwe.2	+	8	765	c.621C>T	c.(619-621)GGC>GGT	p.G207G	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Silent_p.G207G|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Silent_p.G128G	NM_002720	NP_002711	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	207					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			skin(1)	1						CAGGCTGGGGCGTGAGCCCCC	0.627													T	30096003	C	T	30096003	2	4	45	1	0	0	0	0	0	0	0	1	12402	755	27	1		1	PPP4C	16	30096003	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1218064	30096003	60258750	1006	37362											
PPP4C	5531	broad.mit.edu	37	chr16	30096284	30096284	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcagccatcttggagctGgacgagcatctccagaaaga	13	10	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:30096284G>A	uc002dwe.2	+	9	969	c.825G>A	c.(823-825)CTG>CTA	p.L275L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Silent_p.L275L|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Silent_p.L196L	NM_002720	NP_002711	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	275					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			skin(1)	1						TCTTGGAGCTGGACGAGCATC	0.627													A	30096284	G	A	30096284	2	1	45	1	0	0	0	0	0	0	0	1	12402	1335	47	4		4	PPP4C	16	30096284	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	281	30096284	60258469	1007	37363											
TBX6	6911	broad.mit.edu	37	chr16	30097873	30097873	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccccatggaaagccgcagGgtgcaggaggtaggcctcag	17	11	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:30097873G>T	uc010veh.1	-	8	1117	c.1057C>A	c.(1057-1059)CCT>ACT	p.P353T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	NM_004608	NP_004599	O95947	TBX6_HUMAN	T-box 6	353					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						AAAGCCGCAGGGTGCAGGAGG	0.687													T	30097873	G	T	30097873	3	4	45	1	0	0	0	0	1	0	0	0	15659	1232	43	5	261	5	TBX6	16	30097873	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1589	30097873	60256880	1008	37364											
ZNF48	197407	broad.mit.edu	37	chr16	30409310	30409310	+	Frame_Shift_Del	DEL	C	C	-													ggacacaccggggggagcagCccccccgaccagtggtgccc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:30409309_30409309GC>G	uc002dya.2	+	1	1114	c.738_738GC>G	c.(736-738)cagfs	p.Q246fs	ZNF48_uc021tgi.1_Frame_Shift_Del_p.Q246fs|ZNF48_uc021tgj.1_Frame_Shift_Del_p.Q123fs|ZNF48_uc021tgk.1_Frame_Shift_Del_p.Q246fs	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GGGGGGAGCAGCCCCCCCGAC	0.637													-	30409310	C	-	30409310	7	5	45	1	0	1	0	1	0	0	0	0	17931	739	26	0	745	0	ZNF48	16	30409310	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	311437	30409310	59945443	1009	37365											
DCTPP1	79077	broad.mit.edu	37	chr16	30435737	30435737	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagcggcagatccacacgGcagcgggctgctaatgccac	13	14	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:30435737G>A	uc002dyf.2	-	3	402	c.330C>T	c.(328-330)TGC>TGT	p.C110C	ZNF771_uc010bzx.2_Intron	NM_024096	NP_077001	Q9H773	DCTP1_HUMAN	dCTP pyrophosphatase 1	110					nucleoside triphosphate catabolic process	cytosol	dCTP diphosphatase activity|identical protein binding|magnesium ion binding				0						GATCCACACGGCAGCGGGCTG	0.612													A	30435737	G	A	30435737	2	1	45	1	0	0	0	0	0	0	0	1	4312	1195	42	2		2	DCTPP1	16	30435737	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	26427	30435737	59919016	1010	37366											
ITGAL	3683	broad.mit.edu	37	chr16	30529992	30529992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctctccatctccttcaaCagcagcaagcatttccacct	3	18	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:30529992C>T	uc002dyi.3	+	29	3356	c.3180C>T	c.(3178-3180)AAC>AAT	p.N1060N	ITGAL_uc002dyj.3_Silent_p.N976N|ITGAL_uc010vev.1_Silent_p.N294N	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	1060	Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	TCTCCTTCAACAGCAGCAAGC	0.607													T	30529992	C	T	30529992	2	4	45	1	0	0	0	0	0	0	0	1	7886	477	17	4		4	ITGAL	16	30529992	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	94255	30529992	59824761	1011	37367											
PRR14	78994	broad.mit.edu	37	chr16	30663120	30663120	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctttcaccctccagcccGcctggccagccgcgtctgtg	9	19	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:30663120G>A	uc002dyy.2	+	3	285	c.27G>A	c.(25-27)CCG>CCA	p.P9P	PRR14_uc002dyz.2_5'UTR|PRR14_uc002dza.2_Silent_p.P9P|PRR14_uc002dzb.1_5'Flank	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	proline rich 14	9											0			Colorectal(24;0.103)			CCTCCAGCCCGCCTGGCCAGC	0.682													A	30663120	G	A	30663120	2	1	45	1	0	0	0	0	0	0	0	1	12586	1074	38	1		1	PRR14	16	30663120	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	133128	30663120	59691633	1012	37368											
ITGAX	3687	broad.mit.edu	37	chr16	31374258	31374258	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaggctctgcccttcagatCggctcctacttcggggcctc	10	17	2	1	rs147426364		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:31374258C>T	uc002ebu.1	+	13	1429	c.1362C>T	c.(1360-1362)ATC>ATT	p.I454I	ITGAX_uc002ebt.2_Silent_p.I454I|ITGAX_uc010vfk.1_Silent_p.I104I	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	454	FG-GAP 5.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CCCTTCAGATCGGCTCCTACT	0.672													T	31374258	C	T	31374258	2	4	45	1	0	0	0	0	0	0	0	1	7889	874	31	1		1	ITGAX	16	31374258	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	711138	31374258	58980495	1013	37369											
ORC6L	23594	broad.mit.edu	37	chr16	46723639	46723639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggtcggagctgatcgggCgcctagccccgcgcctgggc	18	14	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:46723639C>T	uc002eeh.2	+	1	82	c.22C>T	c.(22-24)CGC>TGC	p.R8C	VPS35_uc002eee.2_5'Flank|VPS35_uc002eef.3_5'Flank|ORC6L_uc002eeg.1_Missense_Mutation_p.R8C|ORC6L_uc010cbe.1_5'UTR	NM_014321	NP_055136	Q9Y5N6	ORC6_HUMAN	origin recognition complex subunit 6	8					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding				0		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GCTGATCGGGCGCCTAGCCCC	0.711													T	46723639	C	T	46723639	3	4	45	1	0	0	0	0	1	0	0	0	11266	768	27	1	24	1	ORC6L	16	46723639	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	15349381	46723639	43631114	1014	37370											
ABCC11	85320	broad.mit.edu	37	chr16	48201547	48201547	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtctccatgtcaatggaggCtgtggcttcatcgataagga	12	8	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:48201547C>A	uc002eff.1	-	28	4266	c.3916G>T	c.(3916-3918)GCC>TCC	p.A1306S	ABCC11_uc002efg.1_Missense_Mutation_p.A1306S|ABCC11_uc002efh.1_Missense_Mutation_p.A1268S|ABCC11_uc010cbg.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	1306	ABC transporter 2.|Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TCAATGGAGGCTGTGGCTTCA	0.453									Cerumen_Type				A	48201547	C	A	48201547	3	1	45	1	0	0	0	0	1	0	0	0	51	797	28	5	240	5	ABCC11	16	48201547	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1477908	48201547	42153206	1015	37371											
CHD9	80205	broad.mit.edu	37	chr16	53243646	53243646	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagaggaaaagaaaggtagaAggatgaaatccaagccaaag	12	4	0	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:53243646A>T	uc002ehb.2	+	2	1869	c.1705A>T	c.(1705-1707)AGG>TGG	p.R569W	CHD9_uc002egy.2_Missense_Mutation_p.R569W|CHD9_uc002egz.1_Missense_Mutation_p.R569W|CHD9_uc002eha.1_Missense_Mutation_p.R569W|CHD9_uc002ehc.2_Missense_Mutation_p.R569W|CHD9_uc002ehd.2_Missense_Mutation_p.R95W	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	569	Lys-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				GAAAGGTAGAAGGATGAAATC	0.368													T	53243646	A	T	53243646	3	4	45	1	0	0	0	0	1	0	0	0	3332	63	3	5	1711	5	CHD9	16	53243646	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	5042099	53243646	37111107	1016	37372											
FTO	79068	broad.mit.edu	37	chr16	53859941	53859941	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcactccggtatctcgcAtcctcattggtaatccaggc	8	14	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:53859941A>G	uc002ehr.2	+	3	511	c.289A>G	c.(289-291)ATC>GTC	p.I97V	FTO_uc010vha.1_Intron	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	97	Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GGTATCTCGCATCCTCATTGG	0.507													G	53859941	A	G	53859941	3	3	45	1	0	0	0	0	1	0	0	0	6086	217	8	3	299	3	FTO	16	53859941	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	616295	53859941	36494812	1017	37373											
CES1	1066	broad.mit.edu	37	chr16	55857555	55857555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccatcataggttgatgccGcacccaccatcagcccccct	7	19	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:55857555G>A	uc002eim.2	-	4	551	c.443C>T	c.(442-444)GCG>GTG	p.A148V	CES1_uc002eil.2_Missense_Mutation_p.A149V|CES1_uc002ein.2_Missense_Mutation_p.A148V	NM_001025194	NP_001020365	P23141	EST1_HUMAN	carboxylesterase 1 isoform b precursor	148					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GGTTGATGCCGCACCCACCAT	0.562													A	55857555	G	A	55857555	3	1	45	1	0	0	0	0	1	0	0	0	3269	1087	38	1	1304	1	CES1	16	55857555	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1997614	55857555	34497198	1018	37374											
CETP	1071	broad.mit.edu	37	chr16	57007277	57007277	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagaatgtctcagaggaccTccccctccccaccttctcgc	6	19	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:57007277T>C	uc002eki.2	+	9	842	c.785T>C	c.(784-786)CTC>CCC	p.L262P	CETP_uc002ekj.2_Intron	NM_000078	NP_000069	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	262					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			central_nervous_system(1)|skin(1)	2						TCAGAGGACCTCCCCCTCCCC	0.597													C	57007277	T	C	57007277	3	2	45	1	0	0	0	0	1	0	0	0	3277	1551	54	3	819	3	CETP	16	57007277	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1149722	57007277	33347476	1019	37375											
CDH5	1003	broad.mit.edu	37	chr16	66436970	66436970	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctgggcaccgactcatcCgactctgacgtggattacga	10	14	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:66436970C>T	uc002eom.3	+	12	2409	c.2253C>T	c.(2251-2253)TCC>TCT	p.S751S		NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	751	Cytoplasmic (Potential).|Ser-rich.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCGACTCATCCGACTCTGACG	0.622													T	66436970	C	T	66436970	2	4	45	1	0	0	0	0	0	0	0	1	3113	639	23	1		1	CDH5	16	66436970	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	9429693	66436970	23917783	1020	37376											
CDH16	1014	broad.mit.edu	37	chr16	66945906	66945906	+	Frame_Shift_Del	DEL	G	G	-													tagctctcctggtccaacttGgggggtggcatcactctctc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:66945905_66945905TG>T	uc002eql.3	-	12	1881	c.1687_1687CA>A	c.(1687-1689)aagfs	p.K563fs	CDH16_uc010cdy.3_Frame_Shift_Del_p.K563fs|CDH16_uc021tjx.1_Frame_Shift_Del_p.K563fs|CDH16_uc002eqm.3_Frame_Shift_Del_p.K466fs	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	563	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGGTCCAACTTGGGGGGTGGC	0.662													-	66945906	G	-	66945906	7	5	45	1	0	1	0	1	0	0	0	0	3101	1335	47	0	827	0	CDH16	16	66945906	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	508936	66945906	23408847	1021	37377											
CES3	23491	broad.mit.edu	37	chr16	66997277	66997277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcgggatgccagcactgCgcccccaatgtgagtagtgc	14	12	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:66997277C>T	uc002eqt.2	+	2	351	c.278C>T	c.(277-279)GCG>GTG	p.A93V	CES3_uc010cdz.2_Missense_Mutation_p.A93V|CES3_uc010cea.2_RNA	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	carboxylesterase 3 precursor	93						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			ovary(3)|central_nervous_system(2)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GCCAGCACTGCGCCCCCAATG	0.647													T	66997277	C	T	66997277	3	4	45	1	0	0	0	0	1	0	0	0	3271	768	27	1	284	1	CES3	16	66997277	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	51371	66997277	23357476	1022	37378											
CES8	283848	broad.mit.edu	37	chr16	67043039	67043039	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacctgagaagcagaggcaAttctaagggtggctatgcag	14	7	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:67043039A>G	uc002eqv.2	+	12	1513	c.1470A>G	c.(1468-1470)CAA>CAG	p.Q490Q	CES8_uc010vix.1_3'UTR|CES8_uc002eqw.2_3'UTR|CES8_uc002eqy.2_Silent_p.Q462Q|CES8_uc002eqx.2_Silent_p.Q366Q|CES8_uc010viy.1_3'UTR|CES8_uc010viz.1_Silent_p.Q462Q|CES8_uc002eqz.2_RNA	NM_173815	NP_776176	Q5XG92	EST4A_HUMAN	carboxylesterase 8 (putative)	560						extracellular region	carboxylesterase activity				0						AGCAGAGGCAATTCTAAGGGT	0.522													G	67043039	A	G	67043039	2	3	45	1	0	0	0	0	0	0	0	1	3273	98	4	3		3	CES8	16	67043039	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	45762	67043039	23311714	1023	37379											
FBXL8	55336	broad.mit.edu	37	chr16	67197591	67197591	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgctgcgcggccctgcgCgaggtgcattgtttctgcgt	16	13	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:67197591C>T	uc002erj.1	+	3	1113	c.993C>T	c.(991-993)CGC>CGT	p.R331R	FBXL8_uc002erk.1_Silent_p.R331R|HSF4_uc002erl.1_5'UTR|HSF4_uc002erm.1_5'UTR|HSF4_uc002ern.1_5'Flank|HSF4_uc010cec.1_5'Flank	NM_018378	NP_060848	Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	331							protein binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		CGGCCCTGCGCGAGGTGCATT	0.721													T	67197591	C	T	67197591	2	4	45	1	0	0	0	0	0	0	0	1	5725	755	27	1		1	FBXL8	16	67197591	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	154552	67197591	23157162	1024	37380											
HSF4	3299	broad.mit.edu	37	chr16	67199648	67199648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcggaaggtggtgagcatcGagcagggcggcctgcttagg	18	8	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:67199648G>A	uc002erl.1	+	5	1224	c.259G>A	c.(259-261)GAG>AAG	p.E87K	HSF4_uc002erm.1_Missense_Mutation_p.E87K|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_RNA	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4 isoform b	87	By similarity.				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GGTGAGCATCGAGCAGGGCGG	0.731													A	67199648	G	A	67199648	3	1	45	1	0	0	0	0	1	0	0	0	7398	1059	37	1	269	1	HSF4	16	67199648	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2057	67199648	23155105	1025	37381											
FHOD1	29109	broad.mit.edu	37	chr16	67265195	67265195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtagcagtgactgtcgacGcaccgtgtccttcacctctg	11	13	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:67265195G>A	uc002esl.2	-	17	2675	c.2563C>T	c.(2563-2565)CGT>TGT	p.R855C	FHOD1_uc002esk.2_5'Flank|FHOD1_uc010ced.2_Missense_Mutation_p.R662C	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	855	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GACTGTCGACGCACCGTGTCC	0.587													A	67265195	G	A	67265195	3	1	45	1	0	0	0	0	1	0	0	0	5882	1087	38	1	955	1	FHOD1	16	67265195	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	65547	67265195	23089558	1026	37382											
FHOD1	29109	broad.mit.edu	37	chr16	67271645	67271645	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaaacaccaacagcagcttCagggctgtcttcaccaccaa	6	15	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:67271645C>T	uc002esl.2	-	7	781	c.669G>A	c.(667-669)CTG>CTA	p.L223L	FHOD1_uc010ced.2_Silent_p.L30L|FHOD1_uc010vjh.1_5'UTR	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	223	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ACAGCAGCTTCAGGGCTGTCT	0.567													T	67271645	C	T	67271645	2	4	45	1	0	0	0	0	0	0	0	1	5882	813	29	4		4	FHOD1	16	67271645	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	6450	67271645	23083108	1027	37383											
PLEKHG4	25894	broad.mit.edu	37	chr16	67318714	67318714	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagctgcactggaccagGcaccctgacttgcctcctgc	10	17	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:67318714G>A	uc002eso.3	+	12	4326	c.1791G>A	c.(1789-1791)AGG>AGA	p.R597R	PLEKHG4_uc002esp.3_Silent_p.R404R|PLEKHG4_uc002esq.3_Silent_p.R597R|PLEKHG4_uc010cef.2_Silent_p.R597R|PLEKHG4_uc002ess.3_Silent_p.R597R|PLEKHG4_uc010ceg.2_Silent_p.R516R	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	597					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		ACTGGACCAGGCACCCTGACT	0.682													A	67318714	G	A	67318714	2	1	45	1	0	0	0	0	0	0	0	1	12071	1194	42	2		2	PLEKHG4	16	67318714	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	47069	67318714	23036039	1028	37384											
TMED6	146456	broad.mit.edu	37	chr16	69377458	69377458	+	Frame_Shift_Del	DEL	A	A	-													tatagtttgattggataaggAaaaagtcagccattttcctc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:69377457_69377457GA>G	uc002exc.2	-	3	632	c.576_576TC>C	c.(574-576)ttcfs	p.F192fs		NM_144676	NP_653277	Q8WW62	TMED6_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 6 (TMED6), mRNA.	192					transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						ATTGGATAAGGAAAAAGTCAG	0.438													-	69377458	A	-	69377458	7	5	45	1	0	1	0	1	0	0	0	0	16005	246	9	0	151	0	TMED6	16	69377458	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	2058744	69377458	20977295	1029	37385											
MARVELD3	91862	broad.mit.edu	37	chr16	71674810	71674810	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcttctcgtgatcatgtaCggcgccagcgtggtgctggc	14	11	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:71674810C>T	uc002fau.2	+	3	1176	c.1113C>T	c.(1111-1113)TAC>TAT	p.Y371Y	PHLPP2_uc002fav.2_RNA|MARVELD3_uc010cge.2_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to membrane				skin(1)	1		Ovarian(137;0.125)				TGATCATGTACGGCGCCAGCG	0.597													T	71674810	C	T	71674810	2	4	45	1	0	0	0	0	0	0	0	1	9319	547	19	1		1	MARVELD3	16	71674810	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2297352	71674810	18679943	1030	37386											
ZFHX3	463	broad.mit.edu	37	chr16	72845891	72845891	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaggagatgcgtttggaGgttgcaggagaatctgtcag	18	4	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:72845891G>A	uc002fck.2	-	6	4249	c.3576C>T	c.(3574-3576)ACC>ACT	p.T1192T	ZFHX3_uc002fcl.2_Silent_p.T278T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1192					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				TGCGTTTGGAGGTTGCAGGAG	0.537													A	72845891	G	A	72845891	2	1	45	1	0	0	0	0	0	0	0	1	17631	987	35	4		4	ZFHX3	16	72845891	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1171081	72845891	17508862	1031	37387											
CHST6	4166	broad.mit.edu	37	chr16	75512732	75512732	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggcagcgcatggcgccagGcctgggagacgttgagcgca	18	11	0	2	rs144301922		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:75512732G>T	uc002fef.2	-	3	1175	c.995C>A	c.(994-996)GCC>GAC	p.A332D	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.A332D	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	332	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						ATGGCGCCAGGCCTGGGAGAC	0.642													T	75512732	G	T	75512732	3	4	45	1	0	0	0	0	1	0	0	0	3408	1203	42	5	196	5	CHST6	16	75512732	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2666841	75512732	14842021	1032	37388											
CHST5	23563	broad.mit.edu	37	chr16	75563452	75563452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcggcttgagtgtggcGgcctcggcgatgcgcacgtg	20	10	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:75563452G>A	uc002fei.2	-	3	2226	c.831C>T	c.(829-831)GCC>GCT	p.A277A	CHST5_uc002fej.1_Silent_p.A283A	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	277	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						TGAGTGTGGCGGCCTCGGCGA	0.711													A	75563452	G	A	75563452	2	1	45	1	0	0	0	0	0	0	0	1	3407	1103	39	1		1	CHST5	16	75563452	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	50720	75563452	14791301	1033	37389											
MAF	4094	broad.mit.edu	37	chr16	79633683	79633683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggctgatgatgcggtcGgtctccaccggttccttttt	11	12	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:79633683G>A	uc002ffn.2	-	1	940	c.117C>T	c.(115-117)ACC>ACT	p.T39T	MAF_uc002ffm.2_Silent_p.T39T	NM_001031804	NP_001026974	O75444	MAF_HUMAN	v-maf musculoaponeurotic fibrosarcoma oncogene	39					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		TGATGCGGTCGGTCTCCACCG	0.602			T	IGH@	MM								A	79633683	G	A	79633683	2	1	45	1	0	0	0	0	0	0	0	1	9155	1103	39	1		1	MAF	16	79633683	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	4070231	79633683	10721070	1034	37390											
FBXO31	79791	broad.mit.edu	37	chr16	87367566	87367566	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacgaacggctgcccctgCccacactgggcaggctgctc	12	17	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:87367566C>T	uc002fjw.2	-	8	1367	c.1323G>A	c.(1321-1323)GGG>GGA	p.G441G	FBXO31_uc010vot.1_Silent_p.G269G|FBXO31_uc002fjv.2_Silent_p.G333G	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	441					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GCTGCCCCTGCCCACACTGGG	0.692													T	87367566	C	T	87367566	2	4	45	1	0	0	0	0	0	0	0	1	5741	726	26	2		2	FBXO31	16	87367566	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	7733883	87367566	2987187	1035	37391											
ACSF3	197322	broad.mit.edu	37	chr16	89169086	89169086	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgctcccgctgcaccacgtCcatggtgtggtcaacgcgct	12	15	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr16:89169086C>T	uc002fmp.2	+	4	1081	c.741C>T	c.(739-741)GTC>GTT	p.V247V	ACSF3_uc010cig.1_Silent_p.V247V|ACSF3_uc010cih.1_5'UTR|ACSF3_uc002fmq.1_RNA|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_5'UTR	NM_174917	NP_777577	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3 precursor	247					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGCACCACGTCCATGGTGTGG	0.627													T	89169086	C	T	89169086	2	4	45	1	0	0	0	0	0	0	0	1	176	842	30	4		4	ACSF3	16	89169086	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1801520	89169086	1185667	1036	37392											
ABR	29	broad.mit.edu	37	chr17	970397	970397	+	Frame_Shift_Del	DEL	G	G	-													gtctgggaaggggtgcacctGggggctggcctcagactcct							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:970396_970396TG>T	uc002fsd.3	-	9	1213	c.1103_1103CA>A	c.(1102-1104)cagfs	p.Q368fs	ABR_uc002fse.3_Frame_Shift_Del_p.Q322fs|ABR_uc010vqg.2_Frame_Shift_Del_p.Q150fs|ABR_uc002fsg.3_Frame_Shift_Del_p.Q331fs|ABR_uc002fsh.1_Frame_Shift_Del_p.Q252fs	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	368	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGGGTGCACCTGGGGGCTGGC	0.567													-	970397	G	-	970397	7	5	45	1	0	1	0	1	0	0	0	0	99	1357	47	0	1533	0	ABR	17	970397	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08		970397	80224813	1037	37393											
SCARF1	8578	broad.mit.edu	37	chr17	1538416	1538416	+	Missense_Mutation	SNP	C	C	T													tctggaagctaccaaaatggCggaagacagagcggacaggg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:1538416C>T	uc002fsz.1	-	11	2179	c.2129G>A	c.(2128-2130)CGC>CAC	p.R710H	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.R624H	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	710	Gly-rich.|Cytoplasmic (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACCAAAATGGCGGAAGACAGA	0.627													T	1538416	C	T	1538416	3	4	45	1	0	0	0	0	1	0	0	0	13883	768	27	1	367	1	SCARF1	17	1538416	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	568019	1538416	79656794	1038	37394	119	2									
SCARF1	8578	broad.mit.edu	37	chr17	1538421	1538421	+	Silent	SNP	G	G	A													aagctaccaaaatggcggaaGacagagcggacagggccttc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:1538421G>A	uc002fsz.1	-	11	2174	c.2124C>T	c.(2122-2124)GTC>GTT	p.V708V	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Silent_p.V622V	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	708	Gly-rich.|Cytoplasmic (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AATGGCGGAAGACAGAGCGGA	0.622													A	1538421	G	A	1538421	2	1	45	1	0	0	0	0	0	0	0	1	13883	929	33	4		4	SCARF1	17	1538421	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	5	1538421	79656789	1039	37395	119	2									
SERPINF2	5345	broad.mit.edu	37	chr17	1649113	1649113	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatggccttcactgccgacCtgttctccctggtggctcaa	10	14	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:1649113C>A	uc002ftk.1	+	5	354	c.277C>A	c.(277-279)CTG>ATG	p.L93M	SERPINF2_uc010vqr.1_Intron	NM_000934	NP_000925	P08697	A2AP_HUMAN	alpha-2-antiplasmin isoform a precursor	93					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	CACTGCCGACCTGTTCTCCCT	0.652													A	1649113	C	A	1649113	3	1	45	1	0	0	0	0	1	0	0	0	14115	680	24	5	301	5	SERPINF2	17	1649113	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	110692	1649113	79546097	1040	37396											
RTN4RL1	146760	broad.mit.edu	37	chr17	1840945	1840945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttctgcaggaagacgcgCtcgctgtccacggggatgcc	14	12	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:1840945C>T	uc002ftp.2	-	2	190	c.171G>A	c.(169-171)GAG>GAA	p.E57E		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1 precursor	57	LRR 1.				axon regeneration	anchored to plasma membrane	receptor activity				0						GGAAGACGCGCTCGCTGTCCA	0.647													T	1840945	C	T	1840945	2	4	45	1	0	0	0	0	0	0	0	1	13731	796	28	2		2	RTN4RL1	17	1840945	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	191832	1840945	79354265	1041	37397											
ATP2A3	489	broad.mit.edu	37	chr17	3833644	3833644	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgagcacggacaaggccaTggtggtggggaagcgtgact	17	9	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:3833644T>C	uc002fxb.1	-	18	2846	c.2695A>G	c.(2695-2697)ATG>GTG	p.M899V	ATP2A3_uc010ckn.1_Missense_Mutation_p.M1V|ATP2A3_uc002fwx.1_Missense_Mutation_p.M899V|ATP2A3_uc002fwy.1_Missense_Mutation_p.M899V|ATP2A3_uc002fwz.1_Missense_Mutation_p.M899V|ATP2A3_uc002fxa.1_Missense_Mutation_p.M899V|ATP2A3_uc002fxc.1_Missense_Mutation_p.M899V|ATP2A3_uc002fxd.1_Missense_Mutation_p.M899V	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	899	Helical; Name=8; (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GACAAGGCCATGGTGGTGGGG	0.443													C	3833644	T	C	3833644	3	2	45	1	0	0	0	0	1	0	0	0	1138	1464	51	3	531	3	ATP2A3	17	3833644	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1992699	3833644	77361566	1042	37398											
SPNS3	201305	broad.mit.edu	37	chr17	4337322	4337322	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggaggtctgcagggccaGtccccagggccaggcaggca	16	14	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:4337322G>T	uc002fxt.2	+	1	104	c.60G>T	c.(58-60)CAG>CAT	p.Q20H	SPNS3_uc002fxu.2_5'UTR	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3	20					lipid transport|transmembrane transport	integral to membrane				large_intestine(1)	1						TGCAGGGCCAGTCCCCAGGGC	0.701													T	4337322	G	T	4337322	3	4	45	1	0	0	0	0	1	0	0	0	15075	1020	36	5	62	5	SPNS3	17	4337322	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	503678	4337322	76857888	1043	37399											
ARRB2	409	broad.mit.edu	37	chr17	4620985	4620985	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcccctccccgaggcctgCggcgtagactttgagattcg	11	15	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:4620985C>T	uc002fyj.2	+	7	651	c.423C>T	c.(421-423)TGC>TGT	p.C141C	ARRB2_uc002fyk.2_Silent_p.C126C|ARRB2_uc002fyl.2_Silent_p.C141C|ARRB2_uc010vsg.1_Silent_p.C162C|ARRB2_uc002fym.2_Silent_p.C126C|ARRB2_uc002fyn.2_5'UTR|ARRB2_uc010ckq.2_5'UTR|ARRB2_uc002fyo.2_5'UTR	NM_004313	NP_004304	P32121	ARRB2_HUMAN	arrestin, beta 2 isoform 1	141					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding				0						CCGAGGCCTGCGGCGTAGACT	0.567													T	4620985	C	T	4620985	2	4	45	1	0	0	0	0	0	0	0	1	981	776	27	1		1	ARRB2	17	4620985	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	283663	4620985	76574225	1044	37400											
CAMTA2	23125	broad.mit.edu	37	chr17	4883536	4883536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggcagaaggctcagtgcCtacaaccactgccaaactca	10	13	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:4883536C>T	uc002gah.1	-	9	1189	c.1081G>A	c.(1081-1083)GGC>AGC	p.G361S	CAMTA2_uc010cku.1_Missense_Mutation_p.G384S|CAMTA2_uc002gag.1_Missense_Mutation_p.G360S|CAMTA2_uc002gai.1_Missense_Mutation_p.G363S|CAMTA2_uc010ckv.1_Missense_Mutation_p.G8S|CAMTA2_uc010vsu.1_Missense_Mutation_p.G174S	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	361					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						GGCTCAGTGCCTACAACCACT	0.617													T	4883536	C	T	4883536	3	4	45	1	0	0	0	0	1	0	0	0	2614	681	24	4	2637	4	CAMTA2	17	4883536	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	262551	4883536	76311674	1045	37401											
NUP88	4927	broad.mit.edu	37	chr17	5292206	5292206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggtttcagccagaacaCggaggggagactctgccact	14	11	2	2	rs149123666		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:5292206C>T	uc002gbo.1	-	11	1585	c.1559G>A	c.(1558-1560)CGT>CAT	p.R520H	NUP88_uc002gbn.2_5'Flank|NUP88_uc010vsx.1_Missense_Mutation_p.R520H|NUP88_uc010cle.1_Missense_Mutation_p.R519H|NUP88_uc010vsy.1_Missense_Mutation_p.R520H	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	520					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1						AGCCAGAACACGGAGGGGAGA	0.443													T	5292206	C	T	5292206	3	4	45	1	0	0	0	0	1	0	0	0	10771	536	19	1	694	1	NUP88	17	5292206	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	408670	5292206	75903004	1046	37402											
NLGN2	57555	broad.mit.edu	37	chr17	7319413	7319413	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgacctactggaccaacTtcgccaagactgggtgaggg	12	11	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:7319413T>G	uc002ggt.1	+	6	1694	c.1621T>G	c.(1621-1623)TTC>GTC	p.F541V		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2 precursor	541	Extracellular (Potential).				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)	1		Prostate(122;0.157)				CTGGACCAACTTCGCCAAGAC	0.512													G	7319413	T	G	7319413	3	3	45	1	0	0	0	0	1	0	0	0	10462	1609	56	5	1643	5	NLGN2	17	7319413	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	2027207	7319413	73875797	1047	37403											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:7577121G>A	uc002gim.2	-	8	1011	c.817C>T	c.(817-819)CGT>TGT	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7577121	G	A	7577121	3	1	45	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	257708	7577121	73618089	1048	37404											
ARHGEF15	22899	broad.mit.edu	37	chr17	8219453	8219453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgcatcacccggctgcGcatgctgctgcaggtacctg	12	16	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:8219453G>A	uc002glc.2	+	9	1812	c.1691G>A	c.(1690-1692)CGC>CAC	p.R564H	ARHGEF15_uc002gld.2_Missense_Mutation_p.R564H|ARHGEF15_uc010vuw.1_Missense_Mutation_p.R453H	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	564	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						ACCCGGCTGCGCATGCTGCTG	0.662													A	8219453	G	A	8219453	3	1	45	1	0	0	0	0	1	0	0	0	898	1087	38	1	1721	1	ARHGEF15	17	8219453	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	642332	8219453	72975757	1049	37405											
MYH1	4619	broad.mit.edu	37	chr17	10401084	10401084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgctttttgtccagggcGgcacaggcagcatttgtcct	11	11	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:10401084G>A	uc002gmo.2	-	31	4426	c.4332C>T	c.(4330-4332)GCC>GCT	p.A1444A	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1444	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						TGTCCAGGGCGGCACAGGCAG	0.443													A	10401084	G	A	10401084	2	1	45	1	0	0	0	0	0	0	0	1	10029	1103	39	1		1	MYH1	17	10401084	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2181631	10401084	70794126	1050	37406											
TNFRSF13B	23495	broad.mit.edu	37	chr17	16843050	16843050	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcactcagggaagcagaaGctgcaggtctccactggctc	12	13	2	1	rs145711865		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:16843050G>T	uc002gqs.1	-	5	706	c.693C>A	c.(691-693)AGC>AGA	p.S231R	TNFRSF13B_uc010vwt.1_RNA|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.S185R	NM_012452	NP_036584	O14836	TR13B_HUMAN	tumor necrosis factor receptor 13B	231	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			kidney(2)	2						GGAAGCAGAAGCTGCAGGTCT	0.687									IgA_Deficiency_Selective				T	16843050	G	T	16843050	3	4	45	1	0	0	0	0	1	0	0	0	16284	962	34	5	192	5	TNFRSF13B	17	16843050	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	6441966	16843050	64352160	1051	37407											
RAI1	10743	broad.mit.edu	37	chr17	17700556	17700556	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaccgaggccttcacatccCcggaggccctgcagcctggg	12	16	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:17700556C>A	uc002grm.2	+	3	4763	c.4294C>A	c.(4294-4296)CCG>ACG	p.P1432T	RAI1_uc002grn.1_Missense_Mutation_p.P1432T	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1432						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CTTCACATCCCCGGAGGCCCT	0.557													A	17700556	C	A	17700556	3	1	45	1	0	0	0	0	1	0	0	0	13007	623	22	5	4296	5	RAI1	17	17700556	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	857506	17700556	63494654	1052	37408											
LRRC48	83450	broad.mit.edu	37	chr17	17896209	17896209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtacctggactaccggcGcattgatgaccacacagcaa	9	13	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:17896209G>A	uc010vxd.1	+	7	954	c.575G>A	c.(574-576)CGC>CAC	p.R192H	LRRC48_uc002gsa.2_Missense_Mutation_p.R192H|LRRC48_uc010vxc.1_Missense_Mutation_p.R192H|LRRC48_uc002gsb.2_Missense_Mutation_p.R192H	NM_001130090	NP_001123562	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48 isoform a	192	LRRCT.					cytoplasm				pancreas(1)	1	all_neural(463;0.228)					GACTACCGGCGCATTGATGAC	0.537													A	17896209	G	A	17896209	3	1	45	1	0	0	0	0	1	0	0	0	9005	1087	38	1	589	1	LRRC48	17	17896209	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	195653	17896209	63299001	1053	37409											
MYO15A	51168	broad.mit.edu	37	chr17	18022183	18022183	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaagaaggcaccggagccGgagaagcccaaacggagcct	16	11	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:18022183G>A	uc010vxh.1	+	2	407	c.69G>A	c.(67-69)CCG>CCA	p.P23P		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	23	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					caccggagccggagaagCCCA	0.413													A	18022183	G	A	18022183	2	1	45	1	0	0	0	0	0	0	0	1	10063	1103	39	1		1	MYO15A	17	18022183	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	125974	18022183	63173027	1054	37410											
MAPK7	5598	broad.mit.edu	37	chr17	19284193	19284193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgactgagtatgtggccaCgcgctggtaccgtgcgcccg	14	13	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:19284193C>T	uc002gvn.2	+	4	1057	c.671C>T	c.(670-672)ACG>ATG	p.T224M	B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.3_5'Flank|MAPK7_uc002gvo.2_Missense_Mutation_p.T85M|MAPK7_uc002gvq.2_Missense_Mutation_p.T224M|MAPK7_uc002gvp.2_Missense_Mutation_p.T224M	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	224	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TATGTGGCCACGCGCTGGTAC	0.542													T	19284193	C	T	19284193	3	4	45	1	0	0	0	0	1	0	0	0	9282	536	19	1	681	1	MAPK7	17	19284193	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1262010	19284193	61911017	1055	37411											
LGALS9	3965	broad.mit.edu	37	chr17	25967679	25967679	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtttgaagatggagggtaCgtggtgtgcaacacgaggca	17	6	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:25967679C>T	uc002gzp.2	+	3	331	c.213C>T	c.(211-213)TAC>TAT	p.Y71Y	LGALS9_uc002gzq.2_Silent_p.Y71Y|LGALS9_uc002gzr.2_Silent_p.Y14Y|LGALS9_uc010waa.1_Silent_p.Y14Y|LGALS9_uc002gzs.2_Silent_p.Y71Y	NM_009587	NP_033665	O00182	LEG9_HUMAN	galectin-9 isoform long	71	Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity				0	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		ATGGAGGGTACGTGGTGTGCA	0.547													T	25967679	C	T	25967679	2	4	45	1	0	0	0	0	0	0	0	1	8748	547	19	1		1	LGALS9	17	25967679	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	6683486	25967679	55227531	1056	37412											
SLC13A2	9058	broad.mit.edu	37	chr17	26816239	26816239	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcccacctgcaggaggcctActgcgcgtatgccatcatcc	9	17	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:26816239A>G	uc002hbh.2	+	2	177	c.110A>G	c.(109-111)TAC>TGC	p.Y37C	SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.1_5'UTR|SLC13A2_uc010wan.1_Missense_Mutation_p.Y37C|SLC13A2_uc010wao.1_Intron|SLC13A2_uc002hbi.2_5'UTR	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	37						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CAGGAGGCCTACTGCGCGTAT	0.597													G	26816239	A	G	26816239	3	3	45	1	0	0	0	0	1	0	0	0	14392	391	14	3	116	3	SLC13A2	17	26816239	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	848560	26816239	54378971	1057	37413											
ALDOC	230	broad.mit.edu	37	chr17	26900833	26900833	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcattgagtgcagaggcttGcagggcacgcccataggaga	16	9	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:26900833G>T	uc002hbp.2	-	8	1064	c.919C>A	c.(919-921)CAA>AAA	p.Q307K	PIGS_uc002hbn.2_5'Flank|PIGS_uc002hbo.2_5'Flank|PIGS_uc010wap.1_5'Flank|ALDOC_uc010cro.2_Missense_Mutation_p.Q279K	NM_005165	NP_005156	P09972	ALDOC_HUMAN	fructose-bisphosphate aldolase C	307					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			ovary(1)	1	Lung NSC(42;0.00431)					GCAGAGGCTTGCAGGGCACGC	0.612													T	26900833	G	T	26900833	3	4	45	1	0	0	0	0	1	0	0	0	509	1328	46	5	183	5	ALDOC	17	26900833	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	84594	26900833	54294377	1058	37414											
SUPT6H	6830	broad.mit.edu	37	chr17	27008285	27008285	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttttcaggctcaaggatgTccaatcaatggatgagctga	10	8	3	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:27008285T>A	uc002hby.2	+	12	1451	c.1361T>A	c.(1360-1362)GTC>GAC	p.V454D	SUPT6H_uc010crt.2_Missense_Mutation_p.V454D	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	454					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					CTCAAGGATGTCCAATCAATG	0.443													A	27008285	T	A	27008285	3	1	45	1	0	0	0	0	1	0	0	0	15397	1667	58	5	1403	5	SUPT6H	17	27008285	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	107452	27008285	54186925	1059	37415											
GIT1	28964	broad.mit.edu	37	chr17	27905345	27905345	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctcttcgatccacctcGtcatacacgtccatggcgag	7	14	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:27905345G>A	uc002hef.2	-	9	1069	c.855C>T	c.(853-855)GAC>GAT	p.D285D	GIT1_uc002heg.2_Silent_p.D294D|GIT1_uc010wbg.1_Silent_p.D294D|GIT1_uc010csb.1_Silent_p.D285D	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interactor 1	285	ARHGEF6-binding (By similarity).|PTK2-binding (By similarity).				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding				0				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GATCCACCTCGTCATACACGT	0.582													A	27905345	G	A	27905345	2	1	45	1	0	0	0	0	0	0	0	1	6396	1136	40	1		1	GIT1	17	27905345	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	897060	27905345	53289865	1060	37416											
CCDC55	84081	broad.mit.edu	37	chr17	28511844	28511844	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaaggtcatagagacccctGagaatgacttcaagcaccac	8	11	2	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:28511844G>A	uc002heu.2	+	7	857	c.829G>A	c.(829-831)GAG>AAG	p.E277K	CCDC55_uc002hev.2_Missense_Mutation_p.E223K|CCDC55_uc010wbl.1_Missense_Mutation_p.E223K|CCDC55_uc010wbm.1_Missense_Mutation_p.E223K|CCDC55_uc002hex.2_Missense_Mutation_p.E223K	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN	coiled-coil domain containing 55 isoform 1	277					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding				0						AGAGACCCCTGAGAATGACTT	0.493													A	28511844	G	A	28511844	3	1	45	1	0	0	0	0	1	0	0	0	2825	1291	45	4	855	4	CCDC55	17	28511844	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	606499	28511844	52683366	1061	37417											
CDK5R1	8851	broad.mit.edu	37	chr17	30814811	30814811	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggaagagaatcgtggccgTgtcggccaagaagaagaact	14	7	0	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:30814811T>C	uc002hhn.2	+	2	394	c.173T>C	c.(172-174)GTG>GCG	p.V58A	CDK5R1_uc010wca.1_Missense_Mutation_p.V58A|CDK5R1_uc010ctc.2_5'Flank	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1	58					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			ATCGTGGCCGTGTCGGCCAAG	0.542													C	30814811	T	C	30814811	3	2	45	1	0	0	0	0	1	0	0	0	3143	1696	59	3	175	3	CDK5R1	17	30814811	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	2302967	30814811	50380399	1062	37418											
LIG3	3980	broad.mit.edu	37	chr17	33310486	33310487	+	Frame_Shift_Ins	INS	-	-	A													agcgggcccgggccaccacaINSaaaaaaatcgaggacctcac							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:33310485_33310486C>CA	uc002hik.2	+	1	590_591	c.461_462C>CA	c.(460-462)acafs	p.T154fs	LIG3_uc002hii.3_Frame_Shift_Ins_p.T154fs|LIG3_uc002hij.3_Frame_Shift_Ins_p.T154fs|LIG3_uc010cth.1_Frame_Shift_Ins_p.T163fs	NM_013975	NP_039269	P49916	DNLI3_HUMAN	Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	154					DNA ligation involved in DNA repair|DNA replication|base-excision repair|cell division|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CGGGCCACCACAAAAAAAATCG	0.485								Other BER factors					A	33310487	-	A	33310486	7	5	45	1	0	1	1	0	0	0	0	0	8782	117	5	0	464	0	LIG3	17	33310486	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	2495675	33310486	47884724	1063	37419											
UNC45B	146862	broad.mit.edu	37	chr17	33497136	33497136	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctcctcacttccaggtgGctgtgcaatatgtccataga	8	13	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:33497136G>A	uc002hja.2	+	12	1648	c.1551G>A	c.(1549-1551)TGG>TGA	p.W517*	UNC45B_uc002hjb.2_Nonsense_Mutation_p.W517*|UNC45B_uc002hjc.2_Nonsense_Mutation_p.W517*|UNC45B_uc010cto.2_Intron	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	517					cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)				CTTCCAGGTGGCTGTGCAATA	0.602													A	33497136	G	A	33497136	4	1	45	1	0	0	0	0	0	1	0	0	16986	1212	42	2	1593	2	UNC45B	17	33497136	Nonsense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	186650	33497136	47698074	1064	37420											
TAF15	8148	broad.mit.edu	37	chr17	34171886	34171887	+	Frame_Shift_Ins	INS	-	-	G													tatggaggagacagaagccgINSggggggctatggaggagacc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:34171885_34171886C>CG	uc002hkd.3	+	14	1668_1669	c.1582_1583C>CG	c.(1582-1584)cggfs	p.R528fs	TAF15_uc002hkc.3_Frame_Shift_Ins_p.R525fs	NM_139215	NP_631961	Q92804	RBP56_HUMAN	Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.	528	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		agACAGAAGCCGGGGGGGCTAT	0.609			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"								G	34171887	-	G	34171886	7	5	45	1	0	1	1	0	0	0	0	0	15515	1116	39	0	1641	0	TAF15	17	34171886	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	674750	34171886	47023324	1065	37421											
TBC1D3B	414059	broad.mit.edu	37	chr17	34493416	34493416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaactttccaagtggaggcCgcagaggcaaggccctgagg	15	10	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:34493416C>T	uc002hky.2	-	14	1759	c.1609G>A	c.(1609-1611)GGC>AGC	p.G537S		NM_001001417	NP_001001417	Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3B	537						intracellular	Rab GTPase activator activity				0		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		aagtggaggccgcagaggcaa	0.393													T	34493416	C	T	34493416	3	4	45	1	0	0	0	0	1	0	0	0	15617	652	23	1	44	1	TBC1D3B	17	34493416	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	321530	34493416	46701794	1066	37422											
TADA2A	6871	broad.mit.edu	37	chr17	35837046	35837047	+	Frame_Shift_Del	DEL	TA	TA	-													tgaacaaaacccggaaaatcTatgatttcctcatcagagaa							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:35837045_35837046CTA>C	uc002hnv.3	+	15	1659_1660	c.1290_1291CTA>C	c.(1288-1293)atctatfs	p.I430fs	TADA2A_uc002hnt.3_Frame_Shift_Del_p.I430fs|TADA2A_uc002hnw.3_Frame_Shift_Del_p.I329fs	NM_001488	NP_001479	O75478	TAD2A_HUMAN	Homo sapiens transcriptional adaptor 2A (TADA2A), transcript variant 1, mRNA.	430	SWIRM.				histone H3 acetylation|transcription from RNA polymerase II promoter	PCAF complex|chromosome	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						CCCGGAAAATCTATGATTTCCT	0.436													-	35837047	TA	-	35837046	7	5	45	1	0	1	0	1	0	0	0	0	15507	1522	53	0	1444	0	TADA2A	17	35837046	Frame_Shift_Del	DEL	TA	TCGA-BR-6852-01A-11D-1882-08	1343630	35837046	45358164	1067	37423											
SYNRG	11276	broad.mit.edu	37	chr17	35937667	35937667	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttgttcctgcccagatgTacttatatcacaagatacta	5	9	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:35937667T>C	uc002hoa.2	-	7	717	c.634A>G	c.(634-636)ACA>GCA	p.T212A	SYNRG_uc010wde.1_Intron|SYNRG_uc010wdf.1_Intron|SYNRG_uc002hoc.2_Intron|SYNRG_uc002hoe.2_Intron|SYNRG_uc002hod.2_Intron|SYNRG_uc010wdg.1_Intron|SYNRG_uc002hob.2_Missense_Mutation_p.T212A|SYNRG_uc002hof.2_5'Flank|SYNRG_uc010cvd.1_Intron|SYNRG_uc002hog.1_Missense_Mutation_p.T346A|SYNRG_uc010wdh.1_Missense_Mutation_p.T313A	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	212					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						TGCCCAGATGTACTTATATCA	0.378													C	35937667	T	C	35937667	3	2	45	1	0	0	0	0	1	0	0	0	15457	1638	57	3	3447	3	SYNRG	17	35937667	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	100621	35937667	45257543	1068	37424											
PLXDC1	57125	broad.mit.edu	37	chr17	37226124	37226124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggacctcgatgaagaagagCgcagcattggatgtggggtg	17	7	0	3	rs61742536		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:37226124C>T	uc002hrg.2	-	13	1580	c.1368G>A	c.(1366-1368)GCG>GCA	p.A456A	uc002hre.1_Intron|uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Silent_p.A152A|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1 precursor	456	Cytoplasmic (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)|skin(1)	3						TGAAGAAGAGCGCAGCATTGG	0.612											OREG0024368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	37226124	C	T	37226124	2	4	45	1	0	0	0	0	0	0	0	1	12117	755	27	1		1	PLXDC1	17	37226124	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1288457	37226124	43969086	1069	37425											
PLXDC1	57125	broad.mit.edu	37	chr17	37243922	37243922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggggtccagctctatgCggtgatattcaaagatgctc	12	9	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:37243922C>T	uc002hrg.2	-	8	1057	c.845G>A	c.(844-846)CGC>CAC	p.R282H	uc002hrf.1_Intron|PLXDC1_uc010cvr.1_5'UTR|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1 precursor	282	Extracellular (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)|skin(1)	3						CAGCTCTATGCGGTGATATTC	0.542													T	37243922	C	T	37243922	3	4	45	1	0	0	0	0	1	0	0	0	12117	768	27	1	685	1	PLXDC1	17	37243922	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	17798	37243922	43951288	1070	37426											
ERBB2	2064	broad.mit.edu	37	chr17	37866359	37866359	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacgcgcactgtctgtgccGgtggctgtgcccgctgcaag	15	13	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:37866359G>T	uc002hso.2	+	6	902	c.664G>T	c.(664-666)GGT>TGT	p.G222C	ERBB2_uc002hsm.2_Missense_Mutation_p.G192C|ERBB2_uc010cwa.2_Missense_Mutation_p.G207C|ERBB2_uc002hsp.2_Missense_Mutation_p.G25C|ERBB2_uc010cwb.2_Missense_Mutation_p.G222C|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Missense_Mutation_p.G192C|ERBB2_uc002hsn.1_Missense_Mutation_p.G222C	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	222	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGTCTGTGCCGGTGGCTGTGC	0.647		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			T	37866359	G	T	37866359	3	4	45	1	0	0	0	0	1	0	0	0	5206	1116	39	5	686	5	ERBB2	17	37866359	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	622437	37866359	43328851	1071	37427											
GRB7	2886	broad.mit.edu	37	chr17	37902012	37902012	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgcctcagcctgcccaTgccagcctccggcacgagcc	9	22	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:37902012T>C	uc002hsr.2	+	12	1491	c.1241T>C	c.(1240-1242)ATG>ACG	p.M414T	GRB7_uc002hss.2_Missense_Mutation_p.M414T|GRB7_uc010cwc.2_Missense_Mutation_p.M414T|GRB7_uc002hst.2_Missense_Mutation_p.M414T	NM_005310	NP_005301	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	414					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGCCTGCCCATGCCAGCCTCC	0.637													C	37902012	T	C	37902012	3	2	45	1	0	0	0	0	1	0	0	0	6759	1464	51	3	1283	3	GRB7	17	37902012	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	35653	37902012	43293198	1072	37428											
GSDMA	284110	broad.mit.edu	37	chr17	38126776	38126776	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attcctgaaggagatgcaagAtcaaggggagaacctgtatg	13	6	1	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:38126776A>C	uc002htl.1	+	4	552	c.434A>C	c.(433-435)GAT>GCT	p.D145A	GSDMA_uc002htm.1_Missense_Mutation_p.D145A	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	gasdermin 1	145					apoptosis|induction of apoptosis	perinuclear region of cytoplasm					0						GAGATGCAAGATCAAGGGGAG	0.587													C	38126776	A	C	38126776	3	2	45	1	0	0	0	0	1	0	0	0	6816	333	12	5	444	5	GSDMA	17	38126776	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	224764	38126776	43068434	1073	37429											
NR1D1	9572	broad.mit.edu	37	chr17	38252191	38252191	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggagcagggggtggcgaggGgcccatggggcctggggtgg	25	8	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:38252191G>T	uc002htz.1	-	5	1380	c.754C>A	c.(754-756)CCC>ACC	p.P252T	NR1D1_uc010cwq.1_Intron|NR1D1_uc010cwr.1_Intron	NM_021724	NP_068370	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	252					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			skin(1)	1	Colorectal(19;0.000442)					GGTGGCGAGGGGCCCATGGGG	0.657													T	38252191	G	T	38252191	3	4	45	1	0	0	0	0	1	0	0	0	10615	1232	43	5	1106	5	NR1D1	17	38252191	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	125415	38252191	42943019	1074	37430											
KRT24	192666	broad.mit.edu	37	chr17	38859493	38859493	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accttgtctaggtaattggcCaagcggtcattgaggttctg	12	8	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:38859493C>A	uc002hvd.2	-	1	510	c.453G>T	c.(451-453)TTG>TTT	p.L151F		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	keratin 24	151	Rod.|Coil 1A.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)				GGTAATTGGCCAAGCGGTCAT	0.522													A	38859493	C	A	38859493	3	1	45	1	0	0	0	0	1	0	0	0	8461	593	21	5	1156	5	KRT24	17	38859493	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	607302	38859493	42335717	1075	37431											
KRT13	3860	broad.mit.edu	37	chr17	39661394	39661394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttcaggtgccagtcacGgatcttcacctccaggtcag	10	14	5	0	rs142183272		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:39661394G>A	uc002hwu.1	-	1	472	c.409C>T	c.(409-411)CGT>TGT	p.R137C	KRT13_uc002hwv.1_Missense_Mutation_p.R137C|KRT13_uc002hww.2_Missense_Mutation_p.R30C|KRT13_uc010wfr.1_Missense_Mutation_p.R30C|KRT13_uc010cxo.2_Missense_Mutation_p.R137C|KRT13_uc002hwx.1_Missense_Mutation_p.R125C	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	137	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|skin(2)|pancreas(1)	5		Breast(137;0.000286)				TGCCAGTCACGGATCTTCACC	0.597													A	39661394	G	A	39661394	3	1	45	1	0	0	0	0	1	0	0	0	8450	1116	39	1	999	1	KRT13	17	39661394	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	801901	39661394	41533816	1076	37432											
JUP	3728	broad.mit.edu	37	chr17	39925887	39925887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacatggcctcccgcaccCgtttggccctggctgttgtg	13	15	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:39925887C>T	uc002hxq.2	-	3	528	c.251G>A	c.(250-252)CGG>CAG	p.R84Q	JUP_uc010wfs.1_Missense_Mutation_p.R84Q|JUP_uc002hxr.2_Missense_Mutation_p.R84Q|JUP_uc002hxs.2_Missense_Mutation_p.R84Q	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	84					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CTCCCGCACCCGTTTGGCCCT	0.667													T	39925887	C	T	39925887	3	4	45	1	0	0	0	0	1	0	0	0	7972	652	23	1	2034	1	JUP	17	39925887	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	264493	39925887	41269323	1077	37433											
STAT5B	6777	broad.mit.edu	37	chr17	40362289	40362289	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaatgagtaggtcatgggcCtgttgcttgtttacaaaccc	10	8	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:40362289C>A	uc002hzh.2	-	15	1975	c.1806G>T	c.(1804-1806)CAG>CAT	p.Q602H		NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	602	SH2.				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)|skin(1)	6		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GGTCATGGGCCTGTTGCTTGT	0.483													A	40362289	C	A	40362289	3	1	45	1	0	0	0	0	1	0	0	0	15268	680	24	5	577	5	STAT5B	17	40362289	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	436402	40362289	40832921	1078	37434											
TUBG2	27175	broad.mit.edu	37	chr17	40815443	40815443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtgtttccctaccaggaCgagatgagcgacgtagtggt	13	9	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:40815443C>T	uc010wgr.1	+	6	784	c.528C>T	c.(526-528)GAC>GAT	p.D176D	TUBG2_uc002iaq.2_Silent_p.D18D|TUBG2_uc002iar.2_Silent_p.D23D|TUBG2_uc002ias.2_Silent_p.D18D|TUBG2_uc002iap.2_Silent_p.D23D	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	176					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CCTACCAGGACGAGATGAGCG	0.512													T	40815443	C	T	40815443	2	4	45	1	0	0	0	0	0	0	0	1	16762	535	19	1		1	TUBG2	17	40815443	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	453154	40815443	40379767	1079	37435											
BECN1	8678	broad.mit.edu	37	chr17	40970673	40970675	+	In_Frame_Del	DEL	ATG	ATG	-													ccacatctgtctggcccgacAtgatgtcaaaaaggtcccca							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:40970672_40970674CATG>C	uc002ibo.3	-	5	511_513	c.376_378CATG>G	c.(376-378)atg>G	p.M126del	BECN1_uc010whb.1_In_Frame_Del_p.M39del|BECN1_uc010whc.1_Intron|BECN1_uc002ibn.2_In_Frame_Del_p.M126del	NM_003766	NP_003757	Q14457	BECN1_HUMAN	Homo sapiens beclin 1, autophagy related (BECN1), mRNA.	126					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TCTGGCCCGACATGATGTCAAAA	0.537													-	40970675	ATG	-	40970673	7	5	45	1	0	1	0	1	0	0	0	0	1396	217	8	0	1003	0	BECN1	17	40970673	In_Frame_Del	DEL	ATG	TCGA-BR-6852-01A-11D-1882-08	155230	40970673	40224537	1080	37436											
GRN	2896	broad.mit.edu	37	chr17	42430105	42430105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggtaccaagtgtttgcGcagggaggccccgcgctggg	18	11	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:42430105G>A	uc002igp.1	+	13	1940	c.1721G>A	c.(1720-1722)CGC>CAC	p.R574H	GRN_uc002igr.1_3'UTR	NM_002087	NP_002078	P28799	GRN_HUMAN	granulin precursor	574					signal transduction	extracellular space	cytokine activity|growth factor activity			ovary(2)|central_nervous_system(2)|skin(1)	5		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AAGTGTTTGCGCAGGGAGGCC	0.662													A	42430105	G	A	42430105	3	1	45	1	0	0	0	0	1	0	0	0	6804	1087	38	1	1767	1	GRN	17	42430105	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1459432	42430105	38765105	1081	37437											
GPATCH8	23131	broad.mit.edu	37	chr17	42477205	42477207	+	In_Frame_Del	DEL	CTT	CTT	-													agtcatcttgagctctccgcCttcttcttggtggtgcggga							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:42477204_42477206CCTT>C	uc002igw.2	-	7	2458_2460	c.2239_2241AAGG>G	c.(2239-2241)agg>G	p.R749del	GPATCH8_uc002igv.2_In_Frame_Del_p.R671del|GPATCH8_uc010wiz.2_In_Frame_Del_p.R671del	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	749	Poly-Arg.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GAGCTCTCCGCCTTCTTCTTGGT	0.567													-	42477207	CTT	-	42477205	7	5	45	1	0	1	0	1	0	0	0	0	6594	681	24	0	2272	0	GPATCH8	17	42477205	In_Frame_Del	DEL	CTT	TCGA-BR-6852-01A-11D-1882-08	47100	42477205	38718005	1082	37438											
DBF4B	80174	broad.mit.edu	37	chr17	42824762	42824762	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctctcccccgccggcagcatCttcagagtgcccagcaccgg	10	19	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:42824762C>T	uc002ihf.2	+	12	1156	c.943C>T	c.(943-945)CTT>TTT	p.L315F	DBF4B_uc002ihe.2_Missense_Mutation_p.L129F|DBF4B_uc010wjc.1_Missense_Mutation_p.L299F	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B isoform 1	315	DBF4-type.				cell cycle	nucleus	nucleic acid binding|zinc ion binding				0		Prostate(33;0.0322)				CCGGCAGCATCTTCAGAGTGC	0.617													T	42824762	C	T	42824762	3	4	45	1	0	0	0	0	1	0	0	0	4249	913	32	4	1034	4	DBF4B	17	42824762	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	347557	42824762	38370448	1083	37439											
STH	246744	broad.mit.edu	37	chr17	44076862	44076862	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttggaaggtgtgggcaccAtttggcccagttcttacagc	13	10	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:44076862A>G	uc002ijy.2	+	1	247	c.217A>G	c.(217-219)ATT>GTT	p.I73V	MAPT_uc010dau.2_Intron|MAPT_uc002ijr.3_Intron|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_001007532	NP_001007533	Q8IWL8	STH_HUMAN	saitohin	73						cytoplasm|nucleus					0						TGTGGGCACCATTTGGCCCAG	0.537													G	44076862	A	G	44076862	3	3	45	1	0	0	0	0	1	0	0	0	15280	217	8	3	219	3	STH	17	44076862	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	1252100	44076862	37118348	1084	37440											
B4GALNT2	124872	broad.mit.edu	37	chr17	47233956	47233956	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgaaggacccgatgccccCgtctatgaggtgagtccttc	11	12	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:47233956C>T	uc002ion.2	+	5	728	c.669C>T	c.(667-669)CCC>CCT	p.P223P	B4GALNT2_uc010wlt.1_Silent_p.P137P|B4GALNT2_uc010wlu.1_Silent_p.P163P	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	223	Lumenal (Potential).				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2			all cancers(6;0.000316)			CCGATGCCCCCGTCTATGAGG	0.572													T	47233956	C	T	47233956	2	4	45	1	0	0	0	0	0	0	0	1	1267	639	23	1		1	B4GALNT2	17	47233956	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3157094	47233956	33961254	1085	37441											
CACNA1G	8913	broad.mit.edu	37	chr17	48704077	48704077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatgtgctgagtctctccGgtttatcctctgacccagca	9	12	2	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:48704077G>A	uc002irk.1	+	38	7471	c.7099G>A	c.(7099-7101)GGT>AGT	p.G2367S	CACNA1G_uc002irj.1_Missense_Mutation_p.G2161S|CACNA1G_uc002irl.1_Missense_Mutation_p.G2251S|CACNA1G_uc002irm.1_Missense_Mutation_p.G2288S|CACNA1G_uc002irn.1_Missense_Mutation_p.G2233S|CACNA1G_uc002iro.1_Missense_Mutation_p.G2240S|CACNA1G_uc002irp.1_Missense_Mutation_p.G2322S|CACNA1G_uc002irq.1_Missense_Mutation_p.G2344S|CACNA1G_uc002irr.1_Missense_Mutation_p.G2274S|CACNA1G_uc002irs.1_Missense_Mutation_p.G2311S|CACNA1G_uc002irt.1_Missense_Mutation_p.G2256S|CACNA1G_uc002irv.1_Missense_Mutation_p.G2263S|CACNA1G_uc002irw.1_Missense_Mutation_p.G2296S|CACNA1G_uc002iru.1_Missense_Mutation_p.G2333S|CACNA1G_uc002irx.1_Missense_Mutation_p.G2108S|CACNA1G_uc002iry.1_Missense_Mutation_p.G2097S|CACNA1G_uc002irz.1_Missense_Mutation_p.G2180S|CACNA1G_uc002isa.1_Missense_Mutation_p.G2153S|CACNA1G_uc002isb.1_Missense_Mutation_p.G2194S|CACNA1G_uc002isc.1_Missense_Mutation_p.G2269S|CACNA1G_uc002isd.1_Missense_Mutation_p.G2162S|CACNA1G_uc002ise.1_Missense_Mutation_p.G2190S|CACNA1G_uc002isf.1_Missense_Mutation_p.G2217S|CACNA1G_uc002isg.1_Missense_Mutation_p.G2135S|CACNA1G_uc002ish.1_Missense_Mutation_p.G2142S|CACNA1G_uc002isi.1_Missense_Mutation_p.G2130S	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	2367	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAGTCTCTCCGGTTTATCCTC	0.622											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	48704077	G	A	48704077	3	1	45	1	0	0	0	0	1	0	0	0	2544	1116	39	1	7516	1	CACNA1G	17	48704077	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1470121	48704077	32491133	1086	37442											
CA10	56934	broad.mit.edu	37	chr17	49825029	49825029	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccattgaggaggtgctcCgacccttggctgtcctcact	11	13	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:49825029C>T	uc002itw.3	-	4	1415	c.429G>A	c.(427-429)TCG>TCA	p.S143S	CA10_uc002itu.3_Silent_p.S72S|CA10_uc002itv.3_Silent_p.S149S|CA10_uc002itx.3_Silent_p.S143S|CA10_uc002ity.3_Silent_p.S143S|CA10_uc002itz.2_Silent_p.S143S	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	143					brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GGAGGTGCTCCGACCCTTGGC	0.507													T	49825029	C	T	49825029	2	4	45	1	0	0	0	0	0	0	0	1	2511	639	23	1		1	CA10	17	49825029	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1120952	49825029	31370181	1087	37443											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	45	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	6610132	56435161	24760049	1088	37444											
TEX14	56155	broad.mit.edu	37	chr17	56663316	56663317	+	Frame_Shift_Ins	INS	-	-	G													tgttttctgggctcctaatgINSgggggctgcagcagggcgtc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:56663315_56663316T>TG	uc010dcz.2	-	17	3052_3053	c.2934_2935A>CA	c.(2932-2937)cccattfs	p.P978fs	TEX14_uc002iwr.2_Frame_Shift_Ins_p.P972fs|TEX14_uc002iws.2_Frame_Shift_Ins_p.P972fs|TEX14_uc010dda.2_Frame_Shift_Ins_p.P752fs	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	978						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGCTCCTAATGGGGGGCTGCA	0.52													G	56663317	-	G	56663316	7	5	45	1	0	1	1	0	0	0	0	0	15775	1335	47	0	1623	0	TEX14	17	56663316	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	228155	56663316	24531894	1089	37445											
RPS6KB1	6198	broad.mit.edu	37	chr17	58013600	58013600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaaaagaaatgctgcttctCgtctgggagctggtcctggg	14	8	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:58013600C>T	uc002ixy.2	+	11	1106	c.1003C>T	c.(1003-1005)CGT>TGT	p.R335C	RPS6KB1_uc010ddj.1_Missense_Mutation_p.R335C|RPS6KB1_uc010wom.1_Missense_Mutation_p.R282C|RPS6KB1_uc010won.1_Missense_Mutation_p.R312C|RPS6KB1_uc010woo.1_Missense_Mutation_p.R270C	NM_003161	NP_003152	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	335	Protein kinase.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			large_intestine(1)	1	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			TGCTGCTTCTCGTCTGGGAGC	0.398													T	58013600	C	T	58013600	3	4	45	1	0	0	0	0	1	0	0	0	13656	884	31	1	1045	1	RPS6KB1	17	58013600	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1350284	58013600	23181610	1090	37446											
TBX2	6909	broad.mit.edu	37	chr17	59479234	59479235	+	Frame_Shift_Ins	INS	-	-	G													acccagacagcccagccacgINSggggagcagtggatggctaa							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:59479233_59479234C>CG	uc010wox.2	+	1	865_866	c.584_585C>CG	c.(583-585)acgfs	p.T195fs	TBX2_uc002ize.3_Frame_Shift_Ins_p.T185fs|TBX2_uc002izg.3_Frame_Shift_Ins_p.T41fs	NM_005994	NP_005985	Q13207	TBX2_HUMAN	Homo sapiens T-box 2 (TBX2), mRNA.	195					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						AGCCCAGCCACGGGGGAGCAGT	0.599													G	59479235	-	G	59479234	7	5	45	1	0	1	1	0	0	0	0	0	15652	1103	39	0	591	0	TBX2	17	59479234	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	1465634	59479234	21715976	1091	37447											
FTSJ3	117246	broad.mit.edu	37	chr17	61902275	61902275	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagagagtgaggtcaccctcAgcatagccttcagccttagg	11	11	3	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:61902275A>G	uc002jbz.2	-	8	804	c.726T>C	c.(724-726)GCT>GCC	p.A242A	FTSJ3_uc002jca.2_Silent_p.A242A|PSMC5_uc002jcb.2_5'Flank|PSMC5_uc010ddy.2_5'Flank|PSMC5_uc010ddz.2_5'Flank|PSMC5_uc002jcc.2_5'Flank|PSMC5_uc002jcd.2_5'Flank	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	242					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						GGTCACCCTCAGCATAGCCTT	0.557													G	61902275	A	G	61902275	2	3	45	1	0	0	0	0	0	0	0	1	6089	175	7	3		3	FTSJ3	17	61902275	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	2423041	61902275	19292935	1092	37448											
SCN4A	6329	broad.mit.edu	37	chr17	62022940	62022940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcagccagaagatgaggCagacaagcagcacattcatg	11	9	2	5			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:62022940C>T	uc002jds.1	-	19	3577	c.3500G>A	c.(3499-3501)TGC>TAC	p.C1167Y		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1167	III.|Helical; Name=S5 of repeat III; (Potential).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GAAGATGAGGCAGACAAGCAG	0.577													T	62022940	C	T	62022940	3	4	45	1	0	0	0	0	1	0	0	0	13920	710	25	2	2034	2	SCN4A	17	62022940	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	120665	62022940	19172270	1093	37449											
SCN4A	6329	broad.mit.edu	37	chr17	62050177	62050177	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagggcccagaggcaccaGggtgcacagagatggtctgg	16	11	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:62050177G>T	uc002jds.1	-	1	102	c.25C>A	c.(25-27)CTG>ATG	p.L9M		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	9					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	AGAGGCACCAGGGTGCACAGA	0.687													T	62050177	G	T	62050177	3	4	45	1	0	0	0	0	1	0	0	0	13920	991	35	5	5581	5	SCN4A	17	62050177	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	27237	62050177	19145033	1094	37450											
SMURF2	64750	broad.mit.edu	37	chr17	62594568	62594568	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtagaatggcattgcccAgatccatcaaccaccacctt	6	14	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:62594568A>G	uc002jep.1	-	3	520	c.132T>C	c.(130-132)TCT>TCC	p.S44S	SMURF2_uc002jeq.1_5'UTR|SMURF2_uc002jer.1_5'UTR	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	44	C2.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			skin(3)|lung(1)	4	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			GGCATTGCCCAGATCCATCAA	0.338													G	62594568	A	G	62594568	2	3	45	1	0	0	0	0	0	0	0	1	14820	175	7	3		3	SMURF2	17	62594568	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	544391	62594568	18600642	1095	37451											
CCDC46	201134	broad.mit.edu	37	chr17	63923699	63923699	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcaaaatgaaagaccaaCctgttgttcataccgctgtc	7	11	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:63923699C>T	uc002jfl.2	-	19	2199	c.1980_splice	c.e19+1	p.Q660_splice	CCDC46_uc010deo.2_Splice_Site_p.Q402_splice|CCDC46_uc002jfm.2_Splice_Site_p.Q660_splice|CCDC46_uc010dep.2_Splice_Site_p.Q618_splice	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	coiled-coil domain containing 46 isoform a							centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)			GAAAGACCAACCTGTTGTTCA	0.308													T	63923699	C	T	63923699	5	4	45	1	0	0	0	0	0	0	1	0	2817	521	18	4	1088	4	CCDC46	17	63923699	Splice_Site	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1329131	63923699	17271511	1096	37452											
KPNA2	3838	broad.mit.edu	37	chr17	66040600	66040600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattctggttatcctggatgCcatttcaaatatctttcagg	7	8	4	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:66040600C>T	uc002jgk.2	+	9	1460	c.1328C>T	c.(1327-1329)GCC>GTC	p.A443V	KPNA2_uc002jgl.2_Missense_Mutation_p.A443V	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	443	ARM 9.				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			central_nervous_system(2)	2	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATCCTGGATGCCATTTCAAAT	0.383													T	66040600	C	T	66040600	3	4	45	1	0	0	0	0	1	0	0	0	8430	739	26	2	1358	2	KPNA2	17	66040600	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2116901	66040600	15154610	1097	37453											
TMEM104	54868	broad.mit.edu	37	chr17	72832176	72832176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacctgtttggggtgtgcGtctactccttcatgtgccag	13	10	2	0	rs142754433	by1000genomes	TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:72832176G>A	uc002jls.3	+	10	1003	c.841G>A	c.(841-843)GTC>ATC	p.V281I	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Missense_Mutation_p.V281I	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	281	Helical; (Potential).					integral to membrane					0	all_lung(278;0.23)					TGGGGTGTGCGTCTACTCCTT	0.622													A	72832176	G	A	72832176	3	1	45	1	0	0	0	0	1	0	0	0	16015	1145	40	1	875	1	TMEM104	17	72832176	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	6791576	72832176	8363034	1098	37454											
GRIN2C	2905	broad.mit.edu	37	chr17	72846360	72846360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacctccccaatcatgccGttccatacgccgcgcacccg	6	21	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:72846360G>A	uc002jlt.1	-	6	1632	c.1476C>T	c.(1474-1476)AAC>AAT	p.N492N	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.N492N	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	492	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CAATCATGCCGTTCCATACGC	0.622													A	72846360	G	A	72846360	2	1	45	1	0	0	0	0	0	0	0	1	6781	1136	40	1		1	GRIN2C	17	72846360	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	14184	72846360	8348850	1099	37455											
OTOP3	347741	broad.mit.edu	37	chr17	72942899	72942899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgtggaagaacgtgggcCgccacgtggcaccccacatg	13	13	1	1	rs147825590	byFrequency	TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:72942899C>T	uc010wrr.1	+	6	949	c.949C>T	c.(949-951)CGC>TGC	p.R317C	OTOP3_uc010wrq.1_Missense_Mutation_p.R299C	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	317						integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)					GAACGTGGGCCGCCACGTGGC	0.637													T	72942899	C	T	72942899	3	4	45	1	0	0	0	0	1	0	0	0	11307	652	23	1	971	1	OTOP3	17	72942899	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	96539	72942899	8252311	1100	37456											
CASKIN2	57513	broad.mit.edu	37	chr17	73500034	73500034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttagccagttatgaatggCctgcgcgtcctgcggggtgg	16	10	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:73500034C>T	uc002joc.2	-	15	2027	c.1477G>A	c.(1477-1479)GCC>ACC	p.A493T	CASKIN2_uc010wsc.1_Missense_Mutation_p.A411T	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	493	SAM 1.					cytoplasm				pancreas(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTATGAATGGCCTGCGCGTCC	0.632													T	73500034	C	T	73500034	3	4	45	1	0	0	0	0	1	0	0	0	2667	739	26	2	2155	2	CASKIN2	17	73500034	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	557135	73500034	7695176	1101	37457											
ACOX1	51	broad.mit.edu	37	chr17	73947567	73947567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggtctccttcatgtatgCgcccacaaactggaaggcat	9	11	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:73947567C>T	uc002jqf.2	-	8	1326	c.1036G>A	c.(1036-1038)GCA>ACA	p.A346T	ACOX1_uc010wsq.1_Missense_Mutation_p.A308T|ACOX1_uc002jqe.2_Missense_Mutation_p.A346T|ACOX1_uc010wsr.1_Missense_Mutation_p.A278T	NM_007292	NP_009223	Q15067	ACOX1_HUMAN	acyl-Coenzyme A oxidase 1 isoform b	346					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			ovary(1)	1						TTCATGTATGCGCCCACAAAC	0.488													T	73947567	C	T	73947567	3	4	45	1	0	0	0	0	1	0	0	0	158	768	27	1	974	1	ACOX1	17	73947567	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	447533	73947567	7247643	1102	37458											
EVPL	2125	broad.mit.edu	37	chr17	74005246	74005246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcgtacaccgcgtcctccGcggcccgcctcttctgggcc	11	20	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:74005246G>A	uc002jqi.2	-	22	4268	c.4040C>T	c.(4039-4041)GCG>GTG	p.A1347V	EVPL_uc010wss.1_Missense_Mutation_p.A1369V|EVPL_uc010wst.1_Missense_Mutation_p.A817V	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1347	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CGCGTCCTCCGCGGCCCGCCT	0.677													A	74005246	G	A	74005246	3	1	45	1	0	0	0	0	1	0	0	0	5292	1087	38	1	2065	1	EVPL	17	74005246	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	57679	74005246	7189964	1103	37459											
MGAT5B	146664	broad.mit.edu	37	chr17	74921064	74921064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtaacttaggggtaccgCcaggccggggaagctgcccg	15	12	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:74921064C>T	uc002jti.2	+	8	1178	c.1075C>T	c.(1075-1077)CCA>TCA	p.P359S	MGAT5B_uc002jth.2_Missense_Mutation_p.P348S	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	N-acetylglucosaminyltranferase VB isoform 2	348	Lumenal (Potential).					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(2)|skin(1)	3						AGGGGTACCGCCAGGCCGGGG	0.612													T	74921064	C	T	74921064	3	4	45	1	0	0	0	0	1	0	0	0	9549	739	26	2	1177	2	MGAT5B	17	74921064	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	915818	74921064	6274146	1104	37460											
BIRC5	332	broad.mit.edu	37	chr17	76219627	76219627	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgagcagctggctgccAtggattgaggcctctggccg	14	13	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:76219627A>G	uc002jvg.2	+	4	542	c.421A>G	c.(421-423)ATG>GTG	p.M141V	BIRC5_uc002jvf.2_Missense_Mutation_p.M164V|BIRC5_uc002jvh.2_Silent_p.P101P|BIRC5_uc002jvi.2_RNA|EPR1_uc002jvj.1_RNA	NM_001168	NP_001159	O15392	BIRC5_HUMAN	baculoviral IAP repeat-containing protein 5	141					anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding			kidney(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			GCTGGCTGCCATGGATTGAGG	0.547													G	76219627	A	G	76219627	3	3	45	1	0	0	0	0	1	0	0	0	1437	217	8	3	508	3	BIRC5	17	76219627	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	1298563	76219627	4975583	1105	37461											
PGS1	9489	broad.mit.edu	37	chr17	76400143	76400143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcttcaggagtactggCggaggggctggacgttccac	15	11	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:76400143C>T	uc002jvm.2	+	7	1387	c.1375C>T	c.(1375-1377)CGG>TGG	p.R459W	PGS1_uc010wtt.1_RNA|PGS1_uc010dho.2_RNA|PGS1_uc002jvn.2_Missense_Mutation_p.R172W|PGS1_uc002jvo.2_RNA|PGS1_uc002jvp.1_Missense_Mutation_p.R172W	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	459					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GGAGTACTGGCGGAGGGGCTG	0.657													T	76400143	C	T	76400143	3	4	45	1	0	0	0	0	1	0	0	0	11808	759	27	1	1401	1	PGS1	17	76400143	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	180516	76400143	4795067	1106	37462											
RNF213	57674	broad.mit.edu	37	chr17	78320622	78320622	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcagtgcgcccgctttcaGcaggggaaggacctgcagca	15	13	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:78320622G>A	uc002jyh.1	+	4	2929	c.2706G>A	c.(2704-2706)CAG>CAA	p.Q902Q		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCCGCTTTCAGCAGGGGAAGG	0.627													A	78320622	G	A	78320622	2	1	45	1	0	0	0	0	0	0	0	1	13477	962	34	2		2	RNF213	17	78320622	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1920479	78320622	2874588	1107	37463											
BAIAP2	10458	broad.mit.edu	37	chr17	79060288	79060288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaaaggagcaaaggcgacGccctggacaagtgtcaggct	14	10	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:79060288G>A	uc002jzg.2	+	6	505	c.397G>A	c.(397-399)GCC>ACC	p.A133T	BAIAP2_uc002jyz.3_Missense_Mutation_p.A133T|BAIAP2_uc002jza.2_Missense_Mutation_p.A133T|BAIAP2_uc002jzc.2_Missense_Mutation_p.A133T|BAIAP2_uc002jzb.2_5'UTR|BAIAP2_uc002jzd.2_Missense_Mutation_p.A133T|BAIAP2_uc002jzf.2_Missense_Mutation_p.A133T|BAIAP2_uc002jze.2_Missense_Mutation_p.A166T|BAIAP2_uc010wuh.1_Missense_Mutation_p.A55T|BAIAP2_uc002jzh.2_Missense_Mutation_p.A134T	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2 isoform 2	133	IMD.|Potential.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding				0	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CAAAGGCGACGCCCTGGACAA	0.537													A	79060288	G	A	79060288	3	1	45	1	0	0	0	0	1	0	0	0	1301	1087	38	1	419	1	BAIAP2	17	79060288	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	739666	79060288	2134922	1108	37464											
BAIAP2	10458	broad.mit.edu	37	chr17	79078359	79078359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagctccatggcagccggccTggagcgcaatggccgtatgc	15	13	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:79078359T>C	uc002jzg.2	+	10	1220	c.1112T>C	c.(1111-1113)CTG>CCG	p.L371P	BAIAP2_uc002jyz.3_Missense_Mutation_p.L371P|BAIAP2_uc002jza.2_Missense_Mutation_p.L371P|BAIAP2_uc002jzc.2_Missense_Mutation_p.L372P|BAIAP2_uc002jzb.2_Missense_Mutation_p.L128P|BAIAP2_uc002jzd.2_Missense_Mutation_p.L371P|BAIAP2_uc002jzf.2_Missense_Mutation_p.L371P|BAIAP2_uc002jze.2_Missense_Mutation_p.L404P|BAIAP2_uc010wuh.1_Missense_Mutation_p.L293P|BAIAP2_uc002jzh.2_Missense_Mutation_p.L372P|BAIAP2_uc010wui.1_Missense_Mutation_p.L234P	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2 isoform 2	371					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding				0	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCAGCCGGCCTGGAGCGCAAT	0.637													C	79078359	T	C	79078359	3	2	45	1	0	0	0	0	1	0	0	0	1301	1580	55	3	1150	3	BAIAP2	17	79078359	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	18071	79078359	2116851	1109	37465											
DUS1L	64118	broad.mit.edu	37	chr17	80017900	80017900	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttggacaggacctccgtGccaccctcctcttcctccag	7	18	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:80017900G>A	uc002kdq.2	-	10	1511	c.1092C>T	c.(1090-1092)GGC>GGT	p.G364G	DUS1L_uc002kdp.2_Silent_p.G233G|DUS1L_uc002kdr.2_Silent_p.G364G|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	PP3111 protein	364					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			skin(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GGACCTCCGTGCCACCCTCCT	0.642													A	80017900	G	A	80017900	2	1	45	1	0	0	0	0	0	0	0	1	4805	1306	46	2		2	DUS1L	17	80017900	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	939541	80017900	1177310	1110	37466											
TBCD	6904	broad.mit.edu	37	chr17	80828180	80828180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccaacgtcagggacgccGcctgctacgtgtgctgggcc	14	15	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr17:80828180G>A	uc002kfz.2	+	14	1529	c.1399G>A	c.(1399-1401)GCC>ACC	p.A467T	TBCD_uc002kfx.1_Missense_Mutation_p.A450T|TBCD_uc002kfy.1_Missense_Mutation_p.A467T	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	467					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CAGGGACGCCGCCTGCTACGT	0.612													A	80828180	G	A	80828180	3	1	45	1	0	0	0	0	1	0	0	0	15630	1087	38	1	1453	1	TBCD	17	80828180	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	810280	80828180	367030	1111	37467											
LAMA1	284217	broad.mit.edu	37	chr18	6942108	6942108	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcccaggacaggaatgaagGaaaactccgtgcagttcgaa	12	9	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:6942108G>A	uc002knm.2	-	63	9292	c.9198C>T	c.(9196-9198)TTC>TTT	p.F3066F	LAMA1_uc002knk.2_Silent_p.F396F|LAMA1_uc002knl.2_Silent_p.F519F|LAMA1_uc010wzj.1_Silent_p.F2542F	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	3066	Laminin G-like 5.				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)	AGGAATGAAGGAAAACTCCGT	0.478													A	6942108	G	A	6942108	2	1	45	1	0	0	0	0	0	0	0	1	8605	1165	41	4		4	LAMA1	18	6942108	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08		6942108	71135140	1112	37468											
LAMA1	284217	broad.mit.edu	37	chr18	6949117	6949117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatttccaattttcctggCctggtactgggagggcaggc	12	10	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:6949117C>T	uc002knm.2	-	59	8633	c.8539G>A	c.(8539-8541)GCC>ACC	p.A2847T	LAMA1_uc002knk.2_Missense_Mutation_p.A177T|LAMA1_uc002knl.2_Missense_Mutation_p.A300T|LAMA1_uc010wzj.1_Missense_Mutation_p.A2323T	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2847	Laminin G-like 4.				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)	ATTTTCCTGGCCTGGTACTGG	0.493													T	6949117	C	T	6949117	3	4	45	1	0	0	0	0	1	0	0	0	8605	739	26	2	708	2	LAMA1	18	6949117	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	7009	6949117	71128131	1113	37469											
LAMA1	284217	broad.mit.edu	37	chr18	6985243	6985243	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggcgtgttcctacctgtacaGaacatctgctagtctctgga	10	11	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:6985243G>T	uc002knm.2	-	39	5747	c.5653C>A	c.(5653-5655)CTG>ATG	p.L1885M	LAMA1_uc010wzj.1_Missense_Mutation_p.L1361M	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1885	Domain II and I.				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)	TACCTGTACAGAACATCTGCT	0.488													T	6985243	G	T	6985243	3	4	45	1	0	0	0	0	1	0	0	0	8605	933	33	5	3674	5	LAMA1	18	6985243	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	36126	6985243	71092005	1114	37470											
LAMA1	284217	broad.mit.edu	37	chr18	7014008	7014008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaatggccggtgaccacatCgcaccgatgatgagtcgacc	12	13	0	3	rs141907708		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:7014008C>T	uc002knm.2	-	23	3263	c.3169G>A	c.(3169-3171)GAT>AAT	p.D1057N	LAMA1_uc010wzj.1_Missense_Mutation_p.D533N	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1057	Laminin EGF-like 12.				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)	GTGACCACATCGCACCGATGA	0.517													T	7014008	C	T	7014008	3	4	45	1	0	0	0	0	1	0	0	0	8605	884	31	1	6222	1	LAMA1	18	7014008	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	28765	7014008	71063240	1115	37471											
LAMA1	284217	broad.mit.edu	37	chr18	7049221	7049221	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacttgggtgaaagatcgtcAgcgcttggtctgccattgat	12	8	2	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:7049221A>G	uc002knm.2	-	5	718	c.624T>C	c.(622-624)GCT>GCC	p.A208A	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	208	Laminin N-terminal.				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)	AAAGATCGTCAGCGCTTGGTC	0.368													G	7049221	A	G	7049221	2	3	45	1	0	0	0	0	0	0	0	1	8605	175	7	3		3	LAMA1	18	7049221	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	35213	7049221	71028027	1116	37472											
KIAA0802	23255	broad.mit.edu	37	chr18	8718506	8718506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttaccagctgcaggaacttCggcgagaactggaccgcgct	12	12	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:8718506C>T	uc002knr.2	+	3	200	c.58C>T	c.(58-60)CGG>TGG	p.R20W	KIAA0802_uc002knq.2_Missense_Mutation_p.R20W	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	371	Potential.										0						GCAGGAACTTCGGCGAGAACT	0.488													T	8718506	C	T	8718506	3	4	45	1	0	0	0	0	1	0	0	0	8194	875	31	1	60	1	KIAA0802	18	8718506	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1669285	8718506	69358742	1117	37473											
ANKRD12	23253	broad.mit.edu	37	chr18	9258243	9258243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaatgaatgcagggatgCcaaaaggaaacctaaatgaa	11	5	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:9258243C>T	uc002knv.2	+	9	5235	c.4978C>T	c.(4978-4980)CCA>TCA	p.P1660S	ANKRD12_uc002knw.2_Missense_Mutation_p.P1637S|ANKRD12_uc002knx.2_Missense_Mutation_p.P1637S|ANKRD12_uc010dkx.1_Missense_Mutation_p.P1367S	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	1660						nucleus				ovary(2)|central_nervous_system(1)	3						TGCAGGGATGCCAAAAGGAAA	0.348													T	9258243	C	T	9258243	3	4	45	1	0	0	0	0	1	0	0	0	640	739	26	2	5008	2	ANKRD12	18	9258243	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	539737	9258243	68819005	1118	37474											
RALBP1	10928	broad.mit.edu	37	chr18	9517240	9517240	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggctgccagccgttttccgTgaatgtatagattacgtaga	11	9	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:9517240T>C	uc002kob.2	+	3	865	c.642T>C	c.(640-642)CGT>CGC	p.R214R	RALBP1_uc002koc.2_Silent_p.R214R	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	214	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			central_nervous_system(1)	1						CCGTTTTCCGTGAATGTATAG	0.418													C	9517240	T	C	9517240	2	2	45	1	0	0	0	0	0	0	0	1	13012	1683	59	3		3	RALBP1	18	9517240	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	258997	9517240	68560008	1119	37475											
FAM38B	63895	broad.mit.edu	37	chr18	10677801	10677801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcattttagcgatattctttCgagtaatatttttaagagga	7	4	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:10677801C>T	uc002kor.3	-	11	1696	c.1556G>A	c.(1555-1557)CGA>CAA	p.R519Q	FAM38B_uc002koq.2_Missense_Mutation_p.R354Q	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2562						integral to membrane	ion channel activity			ovary(1)	1						GATATTCTTTCGAGTAATATT	0.323													T	10677801	C	T	10677801	3	4	45	1	0	0	0	0	1	0	0	0	5555	884	31	1	589	1	FAM38B	18	10677801	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1160561	10677801	67399447	1120	37476											
TUBB6	84617	broad.mit.edu	37	chr18	12325183	12325183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactgcgactgcctgcaggGcttccagctcacgcactcgc	11	17	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:12325183G>A	uc002kqw.2	+	4	440	c.395G>A	c.(394-396)GGC>GAC	p.G132D	TUBB6_uc002kqv.2_Missense_Mutation_p.G60D|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Missense_Mutation_p.G95D|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	132					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)		TGCCTGCAGGGCTTCCAGCTC	0.657													A	12325183	G	A	12325183	3	1	45	1	0	0	0	0	1	0	0	0	16757	1203	42	2	409	2	TUBB6	18	12325183	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1647382	12325183	65752065	1121	37477											
C18orf19	125228	broad.mit.edu	37	chr18	13682063	13682063	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcgagatacagtccgtggtAcattccattgcattttgaag	10	8	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:13682063A>G	uc010dlh.2	-	3	446	c.14T>C	c.(13-15)GTA>GCA	p.V5A	C18orf19_uc010dlg.2_Missense_Mutation_p.V5A|C18orf19_uc010dli.2_Missense_Mutation_p.V5A|C18orf19_uc002ksj.3_Missense_Mutation_p.V5A|C18orf19_uc010dlj.2_Intron	NM_001098801	NP_001092271	Q96ND0	CR019_HUMAN	hypothetical protein LOC125228	5						integral to membrane				breast(2)	2						AGTCCGTGGTACATTCCATTG	0.368													G	13682063	A	G	13682063	3	3	45	1	0	0	0	0	1	0	0	0	1896	391	14	3	816	3	C18orf19	18	13682063	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	1356880	13682063	64395185	1122	37478											
NPC1	4864	broad.mit.edu	37	chr18	21118569	21118569	+	Frame_Shift_Del	DEL	C	C	-													gcaggaatctcatgaagtctCccccctgaggcctctgtttg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:21118568_21118568TC>T	uc002kum.4	-	19	3253	c.2979_2979GA>A	c.(2977-2979)ggafs	p.G993fs	NPC1_uc010xaz.2_Frame_Shift_Del_p.G726fs	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	993					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCATGAAGTCTCCCCCCTGAG	0.562													-	21118569	C	-	21118569	7	5	45	1	0	1	0	1	0	0	0	0	10570	855	30	0	882	0	NPC1	18	21118569	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	7436506	21118569	56958679	1123	37479											
ZNF521	25925	broad.mit.edu	37	chr18	22669475	22669475	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgtggacattgtgtacagTcatagatcttgtcttcttgt	9	7	5	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:22669475T>A	uc002kvk.2	-	7	4107	c.3860A>T	c.(3859-3861)GAC>GTC	p.D1287V	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.D1287V|ZNF521_uc002kvl.2_Missense_Mutation_p.D1067V	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	1287	C2H2-type 30.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTGTGTACAGTCATAGATCTT	0.398			T	PAX5	ALL								A	22669475	T	A	22669475	3	1	45	1	0	0	0	0	1	0	0	0	17962	1667	58	5	83	5	ZNF521	18	22669475	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1550906	22669475	55407773	1124	37480											
ZNF521	25925	broad.mit.edu	37	chr18	22806621	22806621	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agttttcaggtgaatctgcaGaactgcaagacttgaaaata	9	6	2	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:22806621G>T	uc002kvk.2	-	4	1508	c.1261C>A	c.(1261-1263)CTG>ATG	p.L421M	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.L421M|ZNF521_uc002kvl.2_Missense_Mutation_p.L201M	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	421	C2H2-type 9; degenerate.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGAATCTGCAGAACTGCAAGA	0.413			T	PAX5	ALL								T	22806621	G	T	22806621	3	4	45	1	0	0	0	0	1	0	0	0	17962	933	33	5	2694	5	ZNF521	18	22806621	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	137146	22806621	55270627	1125	37481											
DSG4	147409	broad.mit.edu	37	chr18	28989503	28989505	+	In_Frame_Del	DEL	AGA	AGA	-													gctcctgtgcctgagggcggAgaaggagtgatgcagtcttg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:28989502_28989504GAGA>G	uc002kwr.2	+	12	2156_2158	c.2021_2023GAGA>G	c.(2020-2025)ggagaa>gGaa	p.E675del	DSG4_uc002kwq.2_In_Frame_Del_p.E675del	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	675					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTGAGGGCGGAGAAGGAGTGAT	0.542													-	28989505	AGA	-	28989503	7	5	45	1	0	1	0	1	0	0	0	0	4779	291	11	0	2072	0	DSG4	18	28989503	In_Frame_Del	DEL	AGA	TCGA-BR-6852-01A-11D-1882-08	6182882	28989503	49087745	1126	37482											
SLC39A6	25800	broad.mit.edu	37	chr18	33704629	33704629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggaacctggatgcccatgCcatgagatgtcagtagcttt	12	10	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:33704629C>T	uc010dmy.2	-	3	1114	c.824G>A	c.(823-825)GGC>GAC	p.G275D	SLC39A6_uc002kzj.2_5'UTR	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	275	Extracellular (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2						GATGCCCATGCCATGAGATGT	0.418													T	33704629	C	T	33704629	3	4	45	1	0	0	0	0	1	0	0	0	14622	739	26	2	1487	2	SLC39A6	18	33704629	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	4715126	33704629	44372619	1127	37483											
MOCOS	55034	broad.mit.edu	37	chr18	33795561	33795561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatttcatttggatacatgtCgacgctggatgatgtccagg	12	7	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:33795561C>T	uc002kzq.3	+	8	1441	c.1418C>T	c.(1417-1419)TCG>TTG	p.S473L		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	473					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	GGATACATGTCGACGCTGGAT	0.537													T	33795561	C	T	33795561	3	4	45	1	0	0	0	0	1	0	0	0	9689	893	31	1	1448	1	MOCOS	18	33795561	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	90932	33795561	44281687	1128	37484											
FHOD3	80206	broad.mit.edu	37	chr18	34156416	34156416	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttgttttctgtagctTtgggccagattatgttgtat	9	6	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:34156416T>C	uc002kzt.1	+	6	611	c.514T>C	c.(514-516)TTG>CTG	p.L172L	FHOD3_uc002kzr.1_Silent_p.L172L|FHOD3_uc002kzs.1_Silent_p.L172L|FHOD3_uc002kzu.1_5'UTR	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	172	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TTCTGTAGCTTTGGGCCAGAT	0.358													C	34156416	T	C	34156416	2	2	45	1	0	0	0	0	0	0	0	1	5883	1838	64	3		3	FHOD3	18	34156416	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	360855	34156416	43920832	1129	37485											
FHOD3	80206	broad.mit.edu	37	chr18	34340622	34340622	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccccaagccagccgcagggtCtgagctatgcggaggacgcg	15	14	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:34340622C>T	uc002kzt.1	+	22	3998	c.3901C>T	c.(3901-3903)CTG>TTG	p.L1301L	FHOD3_uc002kzs.1_Silent_p.L1318L|FHOD3_uc010dmz.1_Silent_p.L1033L|FHOD3_uc010dnb.1_Intron	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1301					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GCCGCAGGGTCTGAGCTATGC	0.637													T	34340622	C	T	34340622	2	4	45	1	0	0	0	0	0	0	0	1	5883	912	32	4		4	FHOD3	18	34340622	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	184206	34340622	43736626	1130	37486											
CELF4	56853	broad.mit.edu	37	chr18	34833784	34833784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccggcgctcagtacgggCgattggcgtctttgggccgc	16	14	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:34833784C>T	uc002lae.2	-	12	1847	c.1451G>A	c.(1450-1452)CGC>CAC	p.R484H	CELF4_uc010dnd.1_Missense_Mutation_p.R482H|CELF4_uc002lag.2_Missense_Mutation_p.R446H|CELF4_uc002laf.2_Missense_Mutation_p.R478H	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	484					embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						TCAGTACGGGCGATTGGCGTC	0.592													T	34833784	C	T	34833784	3	4	45	1	0	0	0	0	1	0	0	0	3218	768	27	1	13	1	CELF4	18	34833784	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	493162	34833784	43243464	1131	37487											
KIAA1632	57724	broad.mit.edu	37	chr18	43481065	43481065	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actggcacaggaggcttcgtCgggtgcagagcaaggggagg	19	8	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:43481065C>T	uc002lbm.2	-	26	4642	c.4542G>A	c.(4540-4542)CCG>CCA	p.P1514P	KIAA1632_uc010xcq.1_Silent_p.P68P|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Silent_p.P389P	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1514					autophagy						0						GAGGCTTCGTCGGGTGCAGAG	0.498													T	43481065	C	T	43481065	2	4	45	1	0	0	0	0	0	0	0	1	8249	871	31	1		1	KIAA1632	18	43481065	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	8647281	43481065	34596183	1132	37488											
MRO	83876	broad.mit.edu	37	chr18	48333094	48333094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtcaggggcttcataggCcatggttcccaagtttctca	10	11	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:48333094C>T	uc002lew.3	-	4	520	c.226G>A	c.(226-228)GCC>ACC	p.A76T	MRO_uc010xdn.1_Missense_Mutation_p.A76T|MRO_uc010dpa.2_Missense_Mutation_p.A90T|MRO_uc010dpb.2_Missense_Mutation_p.A90T|MRO_uc010dpc.2_Missense_Mutation_p.A76T|MRO_uc002lex.3_Missense_Mutation_p.A76T	NM_031939	NP_114145	Q9BYG7	MSTRO_HUMAN	maestro isoform a	76						nucleolus	binding				0		Colorectal(6;0.0596)		Colorectal(21;0.082)		GCTTCATAGGCCATGGTTCCC	0.557													T	48333094	C	T	48333094	3	4	45	1	0	0	0	0	1	0	0	0	9772	739	26	2	540	2	MRO	18	48333094	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	4852029	48333094	29744154	1133	37489											
DCC	1630	broad.mit.edu	37	chr18	51013231	51013231	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tacccaggaatcctcccgtcTcccacctgtggatatcccca	6	18	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:51013231T>A	uc002lfe.1	+	26	4388	c.3801T>A	c.(3799-3801)TCT>TCA	p.S1267S	DCC_uc010dpf.1_Silent_p.S902S	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1267	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCCTCCCGTCTCCCACCTGTG	0.547													A	51013231	T	A	51013231	2	1	45	1	0	0	0	0	0	0	0	1	4282	1538	54	5		5	DCC	18	51013231	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	2680137	51013231	27064017	1134	37490											
WDR7	23335	broad.mit.edu	37	chr18	54358513	54358513	+	Frame_Shift_Del	DEL	G	G	-													aaaatggacagacatggaccGggggggactttgtctcatca							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:54358512_54358512CG>C	uc002lgk.1	+	7	994	c.783_783CG>C	c.(781-783)accfs	p.T261fs	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Frame_Shift_Del_p.T261fs	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	261								p.T261P(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGACATGGACCGGGGGGGACT	0.418													-	54358513	G	-	54358513	7	5	45	1	0	1	0	1	0	0	0	0	17317	1116	39	0	810	0	WDR7	18	54358513	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	3345282	54358513	23718735	1135	37491											
CDH20	28316	broad.mit.edu	37	chr18	59206270	59206270	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctttagacaatccctcccaGgttggaagtgttcctgtcac	8	13	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:59206270G>T	uc010dps.1	+	8	1434	c.1422G>T	c.(1420-1422)CAG>CAT	p.Q474H	CDH20_uc002lif.2_Missense_Mutation_p.Q468H	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	474	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				ATCCCTCCCAGGTTGGAAGTG	0.408													T	59206270	G	T	59206270	3	4	45	1	0	0	0	0	1	0	0	0	3106	991	35	5	1452	5	CDH20	18	59206270	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	4847757	59206270	18870978	1136	37492											
RTTN	25914	broad.mit.edu	37	chr18	67817279	67817279	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgctgtcatcatcaatcgTccctgaagcaggtataacag	8	10	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:67817279T>C	uc002lkp.2	-	16	2168	c.2100A>G	c.(2098-2100)GGA>GGG	p.G700G	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	700							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				TCATCAATCGTCCCTGAAGCA	0.438													C	67817279	T	C	67817279	2	2	45	1	0	0	0	0	0	0	0	1	13737	1654	58	3		3	RTTN	18	67817279	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	8611009	67817279	10259969	1137	37493											
ZNF407	55628	broad.mit.edu	37	chr18	72589255	72589255	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccgtttaaatgtacctgGcccacgtgccattactcatt	7	12	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:72589255G>A	uc002llw.2	+	4	5037	c.4980G>A	c.(4978-4980)TGG>TGA	p.W1660*	ZNF407_uc010dqu.1_Nonsense_Mutation_p.W1660*	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1660	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AATGTACCTGGCCCACGTGCC	0.522													A	72589255	G	A	72589255	4	1	45	1	0	0	0	0	0	1	0	0	17884	1212	42	2	5104	2	ZNF407	18	72589255	Nonsense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	4771976	72589255	5487993	1138	37494											
NFATC1	4772	broad.mit.edu	37	chr18	77170867	77170867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaactactcgtacccgtacGcgtccccccagacgtcgcca	7	20	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:77170867G>A	uc010xfg.1	+	2	1045	c.592G>A	c.(592-594)GCG>ACG	p.A198T	NFATC1_uc002lnc.1_Missense_Mutation_p.A198T|NFATC1_uc010xff.1_Missense_Mutation_p.A198T|NFATC1_uc002lnd.2_Missense_Mutation_p.A198T|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.A198T|NFATC1_uc010xfi.1_Missense_Mutation_p.A185T|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.A185T|NFATC1_uc002lng.2_Missense_Mutation_p.A185T|NFATC1_uc010xfk.1_Missense_Mutation_p.A185T	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	198	Trans-activation domain A (TAD-A).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GTACCCGTACGCGTCCCCCCA	0.677													A	77170867	G	A	77170867	3	1	45	1	0	0	0	0	1	0	0	0	10361	1087	38	1	690	1	NFATC1	18	77170867	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	4581612	77170867	906381	1139	37495											
ADNP2	22850	broad.mit.edu	37	chr18	77894261	77894261	+	Frame_Shift_Del	DEL	C	C	-													ccctggaagcctcactcattCcccccctgctgctggccaat							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr18:77894260_77894260TC>T	uc002lnw.3	+	3	1419	c.964_964TC>T	c.(964-966)tccfs	p.S322fs		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	322	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A325fs*59(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CCTCACTCATTCCCCCCCTGC	0.642													-	77894261	C	-	77894261	7	5	45	1	0	1	0	1	0	0	0	0	324	855	30	0	975	0	ADNP2	18	77894261	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	723394	77894261	182987	1140	37496											
SHC2	25759	broad.mit.edu	37	chr19	438806	438806	+	Frame_Shift_Del	DEL	C	C	-													caaagcgaaggttgctcttgCccaggacggacgccagggcc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:438806delC	uc002loq.3	-	4	632	c.632delG	c.(631-633)GGCfs	p.G211fs	SHC2_uc002lop.3_5'UTR	NM_012435	NP_036567	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing)	211	PID.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol					0		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGCTCTTGCCCAGGACGGA	0.687													-	438806	C	-	438806	7	5	45	1	0	1	0	1	0	0	0	0	14271	739	26	0	1152	0	SHC2	19	438806	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08		438806	58690177	1141	37497											
PTBP1	5725	broad.mit.edu	37	chr19	805056	805056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacgcctgctgcacgctgcGcatcgacttttccaagctca	8	16	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:805056G>A	uc002lpr.2	+	8	867	c.761G>A	c.(760-762)CGC>CAC	p.R254H	PTBP1_uc002lpp.2_Missense_Mutation_p.R254H|PTBP1_uc002lpq.2_Missense_Mutation_p.R254H|PTBP1_uc002lps.2_Intron|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Missense_Mutation_p.R224H	NM_031991	NP_114368	P26599	PTBP1_HUMAN	polypyrimidine tract-binding protein 1 isoform	254	RRM 2.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			kidney(1)|skin(1)	2		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCACGCTGCGCATCGACTTT	0.647													A	805056	G	A	805056	3	1	45	1	0	0	0	0	1	0	0	0	12725	1087	38	1	791	1	PTBP1	19	805056	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	366250	805056	58323927	1142	37498											
PTBP1	5725	broad.mit.edu	37	chr19	808629	808629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagaacgtgcagctgcccCgcgagggccaggaggaccag	15	14	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:808629C>T	uc002lpr.2	+	12	1358	c.1252C>T	c.(1252-1254)CGC>TGC	p.R418C	PTBP1_uc002lpp.2_Missense_Mutation_p.R444C|PTBP1_uc002lpq.2_Missense_Mutation_p.R437C|PTBP1_uc002lps.2_Missense_Mutation_p.R84C|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Missense_Mutation_p.R414C	NM_031991	NP_114368	P26599	PTBP1_HUMAN	polypyrimidine tract-binding protein 1 isoform	418					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			kidney(1)|skin(1)	2		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCTGCCCCGCGAGGGCCA	0.637													T	808629	C	T	808629	3	4	45	1	0	0	0	0	1	0	0	0	12725	652	23	1	1380	1	PTBP1	19	808629	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3573	808629	58320354	1143	37499											
SBNO2	22904	broad.mit.edu	37	chr19	1109760	1109760	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctcctcgtagatctcctcGataccgggagcaaggtctag	10	13	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:1109760G>A	uc002lrk.3	-	27	3283	c.3045C>T	c.(3043-3045)ATC>ATT	p.I1015I	SBNO2_uc002lri.3_5'Flank|SBNO2_uc002lrj.3_Silent_p.I958I|SBNO2_uc010dse.2_Silent_p.I998I|SBNO2_uc010xgj.1_Intron	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 isoform 1	1015					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent						0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATCTCCTCGATACCGGGAG	0.677													A	1109760	G	A	1109760	2	1	45	1	0	0	0	0	0	0	0	1	13863	1048	37	1		1	SBNO2	19	1109760	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	301131	1109760	58019223	1144	37500											
MIDN	90007	broad.mit.edu	37	chr19	1257102	1257102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggcccggcgggacgcgcGgggtccgtaccactggtcac	16	14	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:1257102G>A	uc002lrp.2	+	8	1753	c.1238G>A	c.(1237-1239)CGG>CAG	p.R413Q		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	413						nucleolus					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGACGCGCGGGGTCCGTAC	0.711													A	1257102	G	A	1257102	3	1	45	1	0	0	0	0	1	0	0	0	9579	1116	39	1	1264	1	MIDN	19	1257102	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	147342	1257102	57871881	1145	37501											
MUM1	84939	broad.mit.edu	37	chr19	1362336	1362336	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacgaggagccaccaagagTccttttataccacggtaaga	10	10	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:1362336T>C	uc010xgm.1	+	5	1268	c.1199T>C	c.(1198-1200)GTC>GCC	p.V400A	MUM1_uc010dsi.2_Missense_Mutation_p.V332A|MUM1_uc002lrz.2_Missense_Mutation_p.V401A|MUM1_uc002lsb.2_Missense_Mutation_p.V332A			Q2TAK8	MUM1_HUMAN	SubName: Full=MUM1 protein;	400					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCAAGAGTCCTTTTATAC	0.582													C	1362336	T	C	1362336	3	2	45	1	0	0	0	0	1	0	0	0	9985	1667	58	3	1220	3	MUM1	19	1362336	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	105234	1362336	57766647	1146	37502											
DAZAP1	26528	broad.mit.edu	37	chr19	1432615	1432615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacctctggctttcccacCgcctccgtctcaggctgccc	8	20	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:1432615C>T	uc002lsn.2	+	11	1163	c.974C>T	c.(973-975)CCG>CTG	p.P325L	DAZAP1_uc002lsm.2_Missense_Mutation_p.P325L|DAZAP1_uc002lso.2_Missense_Mutation_p.P324L|DAZAP1_uc002lsl.1_Missense_Mutation_p.P325L	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1 isoform b	325	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)	1		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTTCCCACCGCCTCCGTCT	0.652													T	1432615	C	T	1432615	3	4	45	1	0	0	0	0	1	0	0	0	4244	652	23	1	1016	1	DAZAP1	19	1432615	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	70279	1432615	57696368	1147	37503											
DOT1L	84444	broad.mit.edu	37	chr19	2222099	2222099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgggagcctttttgccacCgtggggtcccgcagctccac	12	15	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:2222099C>T	uc002lvb.3	+	24	2967	c.2931C>T	c.(2929-2931)ACC>ACT	p.T977T	DOT1L_uc002lvc.1_Silent_p.T271T|DOT1L_uc002lve.1_3'UTR	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	977						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTTTGCCACCGTGGGGTCCC	0.701													T	2222099	C	T	2222099	2	4	45	1	0	0	0	0	0	0	0	1	4709	639	23	1		1	DOT1L	19	2222099	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	789484	2222099	56906884	1148	37504											
TLE2	7089	broad.mit.edu	37	chr19	3028804	3028804	+	Splice_Site	DEL	G	G	-													gccggactggagcggggtctGgggggggtgtgggggaaacg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:3028803_3028803TG>T	uc010dth.3	-	2	288	c.25_splice	c.e2-1	p.T9_splice	TLE2_uc002lww.3_Splice_Site_p.T9_splice|TLE2_uc010xhc.2_Splice_Site|TLE2_uc010dti.3_Splice_Site_p.T22_splice|TLE2_uc010xhd.1_Splice_Site_p.T9_splice	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	9	Gln-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCGGGGTCTGGGGGGGGTG	0.622													-	3028804	G	-	3028804	8	5	45	1	0	1	0	1	0	0	1	0	15936	1363	47	0		0	TLE2	19	3028804	Splice_Site	DEL	G	TCGA-BR-6852-01A-11D-1882-08	806705	3028804	56100179	1149	37505											
PIP5K1C	23396	broad.mit.edu	37	chr19	3653503	3653503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggatgttgttcatgaccaCgacgcggatgttcttgcccc	11	12	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:3653503C>T	uc002lyj.1	-	7	763	c.706G>A	c.(706-708)GTG>ATG	p.V236M	PIP5K1C_uc010xhq.1_Missense_Mutation_p.V236M|PIP5K1C_uc010xhr.1_Missense_Mutation_p.V236M	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	236	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TTCATGACCACGACGCGGATG	0.612													T	3653503	C	T	3653503	3	4	45	1	0	0	0	0	1	0	0	0	11941	536	19	1	1348	1	PIP5K1C	19	3653503	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	624699	3653503	55475480	1150	37506											
MATK	4145	broad.mit.edu	37	chr19	3779120	3779120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgagaccaggatgttgCgggcggccaggtcgcggtgc	17	12	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:3779120C>T	uc002lyt.2	-	12	1467	c.1067G>A	c.(1066-1068)CGC>CAC	p.R356H	MATK_uc002lyv.2_Missense_Mutation_p.R357H|MATK_uc002lyu.2_Missense_Mutation_p.R315H|MATK_uc010dtq.2_Missense_Mutation_p.R356H	NM_139355	NP_647612	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase isoform	356	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGATGTTGCGGGCGGCCAG	0.662													T	3779120	C	T	3779120	3	4	45	1	0	0	0	0	1	0	0	0	9332	768	27	1	468	1	MATK	19	3779120	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	125617	3779120	55349863	1151	37507											
ITGB1BP3	27231	broad.mit.edu	37	chr19	3941175	3941175	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggccaacggtgtggaagtgGgtaagcccctgagcatgacc	15	10	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:3941175G>T	uc002lyz.3	+	7	792	c.502G>T	c.(502-504)GTC>TTC	p.V168F	ITGB1BP3_uc010xia.1_Missense_Mutation_p.V173F	NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN	integrin beta 1 binding protein 3	168					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity			skin(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGGAAGTGGGTAAGCCCCT	0.562													T	3941175	G	T	3941175	3	4	45	1	0	0	0	0	1	0	0	0	7893	1246	43	5	524	5	ITGB1BP3	19	3941175	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	162055	3941175	55187808	1152	37508											
C3	718	broad.mit.edu	37	chr19	6694500	6694500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggccgaacttctcccactgCtccgtttcatccaggtaatg	8	14	2	0	rs148698696		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:6694500C>A	uc002mfm.2	-	24	3158	c.3096G>T	c.(3094-3096)GAG>GAT	p.E1032D	C3_uc002mfl.2_5'Flank	NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	1032				E->A: Impaired binding of C3d to CR2.	complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCTCCCACTGCTCCGTTTCAT	0.617													A	6694500	C	A	6694500	3	1	45	1	0	0	0	0	1	0	0	0	2204	796	28	5	1967	5	C3	19	6694500	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2753325	6694500	52434483	1153	37509											
SH2D3A	10045	broad.mit.edu	37	chr19	6754122	6754122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctcaaaggccagcgcaGcctccgtgtggctccttcgg	12	16	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:6754122G>A	uc002mft.2	-	8	1519	c.1325C>T	c.(1324-1326)GCT>GTT	p.A442V	SH2D3A_uc010xjg.1_Missense_Mutation_p.A349V	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	442					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(2)	2						GGCCAGCGCAGCCTCCGTGTG	0.647													A	6754122	G	A	6754122	3	1	45	1	0	0	0	0	1	0	0	0	14233	971	34	2	417	2	SH2D3A	19	6754122	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	59622	6754122	52374861	1154	37510											
ZNF358	140467	broad.mit.edu	37	chr19	7585732	7585732	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaccctgtgtcctgccctgAcccctgttctcccactcgtg	7	19	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:7585732A>G	uc002mgn.2	+	2	1774	c.1604A>G	c.(1603-1605)GAC>GGC	p.D535G	MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	535					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						TCCTGCCCTGACCCCTGTTCT	0.662													G	7585732	A	G	7585732	3	3	45	1	0	0	0	0	1	0	0	0	17864	275	10	3	1606	3	ZNF358	19	7585732	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	831610	7585732	51543251	1155	37511											
PNPLA6	10908	broad.mit.edu	37	chr19	7626170	7626170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggatgaaggggggtccccCgagggcgcaagccccagcac	17	13	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:7626170C>T	uc010xjq.1	+	33	4215	c.4020C>T	c.(4018-4020)CCC>CCT	p.P1340P	PNPLA6_uc002mgq.1_Silent_p.P1292P|PNPLA6_uc010xjp.1_Silent_p.P1265P|PNPLA6_uc002mgr.1_Silent_p.P1292P|PNPLA6_uc002mgs.2_Silent_p.P1330P|PNPLA6_uc002mgt.1_RNA	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	1331	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						GGGGGTCCCCCGAGGGCGCAA	0.647													T	7626170	C	T	7626170	2	4	45	1	0	0	0	0	0	0	0	1	12169	639	23	1		1	PNPLA6	19	7626170	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	40438	7626170	51502813	1156	37512											
KIAA1543	57662	broad.mit.edu	37	chr19	7676000	7676000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctcctgtcttcaccttcCgccacccgcttctgtcatct	5	18	6	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:7676000C>T	uc002mgv.3	+	9	1170	c.1069C>T	c.(1069-1071)CGC>TGC	p.R357C	KIAA1543_uc002mgu.3_Missense_Mutation_p.R384C	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	357					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						CTTCACCTTCCGCCACCCGCT	0.652													T	7676000	C	T	7676000	3	4	45	1	0	0	0	0	1	0	0	0	8243	652	23	1	1192	1	KIAA1543	19	7676000	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	49830	7676000	51452983	1157	37513											
STXBP2	6813	broad.mit.edu	37	chr19	7709559	7709559	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggactccatgaagctgatCgttccggtgctgctggacgc	13	11	0	2	rs139160342	byFrequency	TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:7709559C>T	uc002mha.3	+	14	1212	c.1167C>T	c.(1165-1167)ATC>ATT	p.I389I	STXBP2_uc002mhb.3_Silent_p.I386I|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Silent_p.I400I|STXBP2_uc010dvk.2_Silent_p.I357I|STXBP2_uc002mhc.3_Silent_p.I157I|STXBP2_uc002mhe.1_Silent_p.I17I	NM_006949	NP_008880	Q15833	STXB2_HUMAN	syntaxin binding protein 2 isoform a	389					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			central_nervous_system(1)	1						TGAAGCTGATCGTTCCGGTGC	0.657													T	7709559	C	T	7709559	2	4	45	1	0	0	0	0	0	0	0	1	15352	874	31	1		1	STXBP2	19	7709559	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	33559	7709559	51419424	1158	37514											
MUC16	94025	broad.mit.edu	37	chr19	9060189	9060190	+	Frame_Shift_Ins	INS	-	-	G													accccttgatgtagccccagINSgagaacctgtttgggtggta							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:9060188_9060189A>AG	uc002mkp.3	-	2	27461_27462	c.27257_27258T>CT	c.(27256-27258)cctfs	p.P9086fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9088	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTAGCCCCAGGAGAACCTGT	0.465													G	9060190	-	G	9060189	7	5	45	1	0	1	1	0	0	0	0	0	9973	1000	35	0	16594	0	MUC16	19	9060189	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	1350630	9060189	50068794	1159	37515											
MUC16	94025	broad.mit.edu	37	chr19	9063005	9063005	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacttcagcagtggcaccAgtgggcactccagaaaggac	13	11	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:9063005A>C	uc002mkp.2	-	3	24645	c.24441T>G	c.(24439-24441)ACT>ACG	p.T8147T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8149	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CAGTGGCACCAGTGGGCACTC	0.547													C	9063005	A	C	9063005	2	2	45	1	0	0	0	0	0	0	0	1	9973	175	7	5		5	MUC16	19	9063005	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	2816	9063005	50065978	1160	37516											
MUC16	94025	broad.mit.edu	37	chr19	9083008	9083008	+	Frame_Shift_Del	DEL	T	T	-													tcatcatccttgcccttgggTttttttctggagacttggac							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:9083007_9083007GT>G	uc002mkp.3	-	0	9012	c.8808_8808AC>C	c.(8806-8808)aacfs	p.N2936fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2937	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGCCCTTGGGTTTTTTTCTG	0.483													-	9083008	T	-	9083008	7	5	45	1	0	1	0	1	0	0	0	0	9973	1725	60	0	35052	0	MUC16	19	9083008	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	20003	9083008	50045975	1161	37517											
EIF3G	8666	broad.mit.edu	37	chr19	10226702	10226702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgtcgcgcaggctcggcGgcacatacttccctgtcttg	11	17	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:10226702G>A	uc002mnd.2	-	8	708	c.644C>T	c.(643-645)CCG>CTG	p.P215L		NM_003755	NP_003746	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3,	215						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CAGGCTCGGCGGCACATACTT	0.682													A	10226702	G	A	10226702	3	1	45	1	0	0	0	0	1	0	0	0	5017	1116	39	1	334	1	EIF3G	19	10226702	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1143694	10226702	48902281	1162	37518											
DNMT1	1786	broad.mit.edu	37	chr19	10260288	10260288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgcagaaccagtgggcGtgaaacatctgcccgttgct	12	13	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:10260288G>A	uc002mng.2	-	25	2559	c.2379C>T	c.(2377-2379)CAC>CAT	p.H793H	DNMT1_uc010xlc.1_Silent_p.H809H|DNMT1_uc002mnh.2_Silent_p.H688H|DNMT1_uc010xld.1_Silent_p.H793H	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	793	BAH 1.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	ACCAGTGGGCGTGAAACATCT	0.577													A	10260288	G	A	10260288	2	1	45	1	0	0	0	0	0	0	0	1	4675	1136	40	1		1	DNMT1	19	10260288	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	33586	10260288	48868695	1163	37519											
RAVER1	125950	broad.mit.edu	37	chr19	10432222	10432222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttacctgcaggcagctcccCgaggagggggttggctggct	17	11	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:10432222C>T	uc002moa.2	-	7	1377	c.1297G>A	c.(1297-1299)GGG>AGG	p.G433R		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	416	Pro-rich.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GGCAGCTCCCCGAGGAGGGGG	0.552													T	10432222	C	T	10432222	3	4	45	1	0	0	0	0	1	0	0	0	13094	652	23	1	1001	1	RAVER1	19	10432222	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	171934	10432222	48696761	1164	37520											
QTRT1	81890	broad.mit.edu	37	chr19	10823277	10823277	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctcttggatgtgacatgttCgactgcgtcttccccacacg	10	13	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:10823277C>T	uc002mpr.2	+	7	859	c.834C>T	c.(832-834)TTC>TTT	p.F278F	DNM2_uc010dxk.2_5'Flank	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	278					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			skin(1)	1			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			GTGACATGTTCGACTGCGTCT	0.637													T	10823277	C	T	10823277	2	4	45	1	0	0	0	0	0	0	0	1	12885	883	31	1		1	QTRT1	19	10823277	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	391055	10823277	48305706	1165	37521											
LDLR	3949	broad.mit.edu	37	chr19	11224051	11224051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatccccaacctgaggaaCgtggtcgctctggacacgga	11	14	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:11224051C>T	uc002mqk.3	+	9	1452	c.1284C>T	c.(1282-1284)AAC>AAT	p.N428N	LDLR_uc010xlk.1_Silent_p.N428N|LDLR_uc010xll.1_Silent_p.N387N|LDLR_uc010xlm.1_Silent_p.N281N|LDLR_uc010xln.1_Silent_p.N301N|LDLR_uc010xlo.1_Silent_p.N260N	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	428	LDL-receptor class B 1.|Extracellular (Potential).				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	ACCTGAGGAACGTGGTCGCTC	0.602													T	11224051	C	T	11224051	2	4	45	1	0	0	0	0	0	0	0	1	8704	535	19	1		1	LDLR	19	11224051	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	400774	11224051	47904932	1166	37522											
ZNF563	147837	broad.mit.edu	37	chr19	12429861	12429861	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgtgccttttcatgtgTatctgaaagcttccaagatg	9	9	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:12429861T>C	uc002mtp.2	-	4	1216	c.978A>G	c.(976-978)ATA>ATG	p.I326M		NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	zinc finger protein 563	326	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTTTCATGTGTATCTGAAAGC	0.423													C	12429861	T	C	12429861	3	2	45	1	0	0	0	0	1	0	0	0	17991	1628	57	3	456	3	ZNF563	19	12429861	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1205810	12429861	46699122	1167	37523											
TNPO2	30000	broad.mit.edu	37	chr19	12826219	12826219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagggagctgcacccacCggatcttgggactgcagtgc	13	15	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:12826219C>T	uc002muo.2	-	6	751	c.566G>A	c.(565-567)CGG>CAG	p.R189Q	TNPO2_uc002mup.2_Missense_Mutation_p.R281Q|TNPO2_uc002muq.2_Missense_Mutation_p.R189Q|TNPO2_uc002mur.2_Missense_Mutation_p.R189Q	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	189	HEAT 2.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						CTGCACCCACCGGATCTTGGG	0.632													T	12826219	C	T	12826219	3	4	45	1	0	0	0	0	1	0	0	0	16333	666	23	1	2203	1	TNPO2	19	12826219	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	396358	12826219	46302764	1168	37524											
MAST1	22983	broad.mit.edu	37	chr19	12985178	12985178	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cggaggatggcactggcgggAtggccagggctgtggccaag	20	9	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:12985178A>T	uc002mvm.2	+	26	4335	c.4207A>T	c.(4207-4209)ATG>TTG	p.M1403L		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1403					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CACTGGCGGGATGGCCAGGGC	0.736													T	12985178	A	T	12985178	3	4	45	1	0	0	0	0	1	0	0	0	9324	333	12	5	4309	5	MAST1	19	12985178	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	158959	12985178	46143805	1169	37525											
CACNA1A	773	broad.mit.edu	37	chr19	13414640	13414640	+	Frame_Shift_Del	DEL	C	C	-													acaccatgccgccctgcacgCccccctgagacttgatcccg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:13414639_13414639GC>G	uc002mwy.3	-	15	2282	c.2046_2046GC>C	c.(2044-2046)ggcfs	p.G682fs	CACNA1A_uc010dzc.2_Frame_Shift_Del_p.G208fs|CACNA1A_uc010xnd.2_Frame_Shift_Del_p.G682fs|CACNA1A_uc021ups.1_Frame_Shift_Del_p.G682fs|CACNA1A_uc010xne.2_Frame_Shift_Del_p.G682fs|CACNA1A_uc010dze.2_Frame_Shift_Del_p.G682fs|CACNA1A_uc021upt.1_Frame_Shift_Del_p.G683fs	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	683					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGCCCTGCACGCCCCCCTGAG	0.557													-	13414640	C	-	13414640	7	5	45	1	0	1	0	1	0	0	0	0	2538	739	26	0	5714	0	CACNA1A	19	13414640	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	429462	13414640	45714343	1170	37526											
NWD1	284434	broad.mit.edu	37	chr19	16860328	16860328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacggccggacaggagttggCgtggctctaccaagagatcc	14	11	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:16860328C>T	uc002neu.3	+	6	1297	c.875C>T	c.(874-876)GCG>GTG	p.A292V	NWD1_uc002net.3_Missense_Mutation_p.A157V|NWD1_uc002nev.3_Missense_Mutation_p.A86V			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	292	WD 1.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7						CAGGAGTTGGCGTGGCTCTAC	0.627													T	16860328	C	T	16860328	3	4	45	1	0	0	0	0	1	0	0	0	10781	768	27	1	476	1	NWD1	19	16860328	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3445688	16860328	42268655	1171	37527											
CPAMD8	27151	broad.mit.edu	37	chr19	17081703	17081703	+	Splice_Site	DEL	G	G	-													caatgtataagccgttacctGggggggtgcctggaaggagc							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:17081702_17081702TG>T	uc002nfb.3	-	18	2386	c.2354_splice	c.e18+1	p.R785_splice		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	738						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGCCGTTACCTGGGGGGGTGC	0.572													-	17081703	G	-	17081703	8	5	45	1	0	1	0	1	0	0	1	0	3795	1335	47	0	3546	0	CPAMD8	19	17081703	Splice_Site	DEL	G	TCGA-BR-6852-01A-11D-1882-08	221375	17081703	42047280	1172	37528											
MYO9B	4650	broad.mit.edu	37	chr19	17213125	17213125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctacaaccccaagtacGtgaagatgtatgagaaccag	8	11	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:17213125G>A	uc010eak.2	+	2	750	c.598G>A	c.(598-600)GTG>ATG	p.V200M	MYO9B_uc002nfi.2_Missense_Mutation_p.V200M|MYO9B_uc002nfj.1_Missense_Mutation_p.V200M	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	200	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						CCCCAAGTACGTGAAGATGTA	0.567													A	17213125	G	A	17213125	3	1	45	1	0	0	0	0	1	0	0	0	10085	1145	40	1	600	1	MYO9B	19	17213125	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	131422	17213125	41915858	1173	37529											
GTPBP3	84705	broad.mit.edu	37	chr19	17449796	17449796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggcctatatcgatttcGgcgaggatgacaacctggag	14	8	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:17449796G>A	uc010eas.2	+	5	690	c.625G>A	c.(625-627)GGC>AGC	p.G209S	GTPBP3_uc010xpo.1_Missense_Mutation_p.G231S|GTPBP3_uc010ear.1_RNA|GTPBP3_uc002ngh.3_Missense_Mutation_p.G209S|GTPBP3_uc002ngg.3_Missense_Mutation_p.G209S|GTPBP3_uc002ngi.3_5'UTR	NM_032620	NP_116009	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial) isoform V	209					tRNA modification	mitochondrion	GTP binding|GTPase activity			skin(1)	1						TATCGATTTCGGCGAGGATGA	0.612													A	17449796	G	A	17449796	3	1	45	1	0	0	0	0	1	0	0	0	6881	1116	39	1	643	1	GTPBP3	19	17449796	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	236671	17449796	41679187	1174	37530											
SLC27A1	376497	broad.mit.edu	37	chr19	17611367	17611367	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgccgcttcgatggctAtgtcagcgagagcgccacca	13	14	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:17611367A>G	uc002ngu.1	+	9	1447	c.1397A>G	c.(1396-1398)TAT>TGT	p.Y466C	SLC27A1_uc010xpp.1_Missense_Mutation_p.Y287C|SLC27A1_uc002ngv.1_Missense_Mutation_p.Y68C	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	466	Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding				0						TTCGATGGCTATGTCAGCGAG	0.642													G	17611367	A	G	17611367	3	3	45	1	0	0	0	0	1	0	0	0	14525	449	16	3	1431	3	SLC27A1	19	17611367	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	161571	17611367	41517616	1175	37531											
GLT25D1	79709	broad.mit.edu	37	chr19	17692195	17692195	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcactgagccgtgaggCcaagaactcggacgtgctcc	14	13	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:17692195C>G	uc002nhc.1	+	12	1823	c.1811C>G	c.(1810-1812)GCC>GGC	p.A604G	GLT25D1_uc010eay.1_Intron	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	glycosyltransferase 25 domain containing 1	604					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity				0						AGCCGTGAGGCCAAGAACTCG	0.617													G	17692195	C	G	17692195	3	3	45	1	0	0	0	0	1	0	0	0	6466	739	26	5	1857	5	GLT25D1	19	17692195	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	80828	17692195	41436788	1176	37532											
FCHO1	23149	broad.mit.edu	37	chr19	17886908	17886908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggctccagcctgcagccccGaggcagcagcggcacagctc	14	17	0	0	rs148410831	byFrequency	TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:17886908G>A	uc010ebb.2	+	15	1309	c.1120G>A	c.(1120-1122)GAG>AAG	p.E374K	FCHO1_uc002nhg.3_Missense_Mutation_p.E374K|FCHO1_uc002nhh.2_Missense_Mutation_p.E374K|FCHO1_uc010xpw.1_Missense_Mutation_p.E324K|FCHO1_uc002nhi.2_5'Flank|FCHO1_uc002nhj.2_5'Flank	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN	FCH domain only 1 isoform b	374										breast(1)	1						CTGCAGCCCCGAGGCAGCAGC	0.677													A	17886908	G	A	17886908	3	1	45	1	0	0	0	0	1	0	0	0	5787	1059	37	1	1170	1	FCHO1	19	17886908	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	194713	17886908	41242075	1177	37533											
B3GNT3	10331	broad.mit.edu	37	chr19	17919127	17919127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggaggcacagactcacGgagacatcctgcagtgggac	14	11	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:17919127G>A	uc002nhk.1	+	2	596	c.511G>A	c.(511-513)GGA>AGA	p.G171R	B3GNT3_uc002nhl.1_Missense_Mutation_p.G171R|B3GNT3_uc010ebd.1_Missense_Mutation_p.G171R|B3GNT3_uc010ebe.1_Missense_Mutation_p.G171R	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal	171	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			upper_aerodigestive_tract(1)	1						ACAGACTCACGGAGACATCCT	0.637													A	17919127	G	A	17919127	3	1	45	1	0	0	0	0	1	0	0	0	1258	1117	39	1	513	1	B3GNT3	19	17919127	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	32219	17919127	41209856	1178	37534											
ATP13A1	57130	broad.mit.edu	37	chr19	19758041	19758041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtagaggacgctctggCtgtaggccaggatgagggca	17	9	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:19758041C>T	uc002nnh.3	-	22	3030	c.3002G>A	c.(3001-3003)AGC>AAC	p.S1001N	ATP13A1_uc002nne.2_Missense_Mutation_p.S141N|ATP13A1_uc002nnf.3_Missense_Mutation_p.S369N|ATP13A1_uc002nng.2_Missense_Mutation_p.S883N	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	1001	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						GACGCTCTGGCTGTAGGCCAG	0.612													T	19758041	C	T	19758041	3	4	45	1	0	0	0	0	1	0	0	0	1123	797	28	2	632	2	ATP13A1	19	19758041	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1838914	19758041	39370942	1179	37535											
ZNF43	7594	broad.mit.edu	37	chr19	21991137	21991137	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctttgccacattcttcacActtgtagggtttctctccag	7	12	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:21991137A>C	uc002nqj.2	-	4	1832	c.1702T>G	c.(1702-1704)TGT>GGT	p.C568G	ZNF43_uc010ecv.2_Missense_Mutation_p.C562G|ZNF43_uc002nql.2_Missense_Mutation_p.C562G|ZNF43_uc002nqm.2_Missense_Mutation_p.C562G|ZNF43_uc002nqk.2_Missense_Mutation_p.C498G	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	568	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CATTCTTCACACTTGTAGGGT	0.368													C	21991137	A	C	21991137	3	2	45	1	0	0	0	0	1	0	0	0	17900	159	6	5	731	5	ZNF43	19	21991137	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	2233096	21991137	37137846	1180	37536											
ZNF43	7594	broad.mit.edu	37	chr19	21992087	21992087	+	Frame_Shift_Del	DEL	T	T	-													agagtttgtatctagtataaTtttttttatgtgtagtaagg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:21992086_21992086AT>A	uc002nqj.3	-	3	883	c.753_753AT>T	c.(751-753)aatfs	p.N251fs	ZNF43_uc002nql.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqm.3_Frame_Shift_Del_p.N245fs|ZNF43_uc010ecv.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqk.3_Frame_Shift_Del_p.N181fs	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATCTAGTATAATTTTTTTTAT	0.348													-	21992087	T	-	21992087	7	5	45	1	0	1	0	1	0	0	0	0	17900	1493	52	0	1681	0	ZNF43	19	21992087	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	950	21992087	37136896	1181	37537											
C19orf12	83636	broad.mit.edu	37	chr19	30193763	30193763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactccaggtgcctgatgatGgctgcggcttcgttaaagag	13	10	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:30193763G>A	uc002nsk.2	-	3	713	c.282C>T	c.(280-282)GCC>GCT	p.A94A	C19orf12_uc002nsj.2_Silent_p.A105A|C19orf12_uc002nsl.2_3'UTR|C19orf12_uc002nsm.2_RNA	NM_031448	NP_113636	Q9NSK7	CS012_HUMAN	hypothetical protein LOC83636 isoform 2	94						integral to membrane					0	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			GCCTGATGATGGCTGCGGCTT	0.612													A	30193763	G	A	30193763	2	1	45	1	0	0	0	0	0	0	0	1	1909	1335	47	4		4	C19orf12	19	30193763	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	8201676	30193763	28935220	1182	37538											
ZNF536	9745	broad.mit.edu	37	chr19	30934972	30934972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtactgcgaccacagggcggCgcagaaggggaacctcaaga	15	11	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:30934972C>T	uc002nsu.1	+	2	641	c.503C>T	c.(502-504)GCG>GTG	p.A168V	ZNF536_uc010edd.1_Missense_Mutation_p.A168V	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	168	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CACAGGGCGGCGCAGAAGGGG	0.657													T	30934972	C	T	30934972	3	4	45	1	0	0	0	0	1	0	0	0	17971	768	27	1	505	1	ZNF536	19	30934972	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	741209	30934972	28194011	1183	37539											
LSM14A	26065	broad.mit.edu	37	chr19	34712518	34712518	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatacagaggcagaggaggtCttggtttccgtggtggcaga	17	6	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:34712518C>A	uc002nvb.3	+	9	1439	c.1243C>A	c.(1243-1245)CTT>ATT	p.L415I	LSM14A_uc002nva.3_Missense_Mutation_p.L415I|LSM14A_uc010xru.1_Missense_Mutation_p.L374I|LSM14A_uc002nvc.3_Missense_Mutation_p.L221I	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	LSM14 homolog A isoform a	415					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				skin(1)	1	Esophageal squamous(110;0.162)					CAGAGGAGGTCTTGGTTTCCG	0.577													A	34712518	C	A	34712518	3	1	45	1	0	0	0	0	1	0	0	0	9054	913	32	5	1277	5	LSM14A	19	34712518	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3777546	34712518	24416465	1184	37540											
LSR	51599	broad.mit.edu	37	chr19	35752847	35752847	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaggacctcaggggtggcTgagctcttacctggttttca	15	9	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:35752847T>C	uc002nyl.2	+	4	961	c.738T>C	c.(736-738)GCT>GCC	p.A246A	LSR_uc002nym.2_Intron|LSR_uc002nyn.2_Intron|LSR_uc002nyo.2_Intron|LSR_uc010xsr.1_Intron|LSR_uc002nyp.2_Silent_p.A209A	NM_205834	NP_991403	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	246	Extracellular (Potential).				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CAGGGGTGGCTGAGCTCTTAC	0.602													C	35752847	T	C	35752847	2	2	45	1	0	0	0	0	0	0	0	1	9064	1567	55	3		3	LSR	19	35752847	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1040329	35752847	23376136	1185	37541											
MAG	4099	broad.mit.edu	37	chr19	35800926	35800926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagagcgagcgggagttcGtgtactcggagcgcagcggc	18	10	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:35800926G>A	uc002nyy.1	+	8	1530	c.1381G>A	c.(1381-1383)GTG>ATG	p.V461M	MAG_uc002nyx.1_Missense_Mutation_p.V461M|MAG_uc010eds.1_Missense_Mutation_p.V436M|MAG_uc002nyz.1_Missense_Mutation_p.V461M	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	461	Ig-like C2-type 4.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCGGGAGTTCGTGTACTCGGA	0.677													A	35800926	G	A	35800926	3	1	45	1	0	0	0	0	1	0	0	0	9162	1145	40	1	1403	1	MAG	19	35800926	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	48079	35800926	23328057	1186	37542											
FFAR3	2865	broad.mit.edu	37	chr19	35850476	35850476	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtggcggggctgttggcGgccacgctgctcaacttcct	16	12	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:35850476G>A	uc002nzd.2	+	2	759	c.684G>A	c.(682-684)GCG>GCA	p.A228A	FFAR3_uc010xsu.1_Intron	NM_005304	NP_005295	O14843	FFAR3_HUMAN	free fatty acid receptor 3	228	Helical; Name=6; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding				0	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GGCTGTTGGCGGCCACGCTGC	0.637													A	35850476	G	A	35850476	2	1	45	1	0	0	0	0	0	0	0	1	5829	1103	39	1		1	FFAR3	19	35850476	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	49550	35850476	23278507	1187	37543											
MLL4	9757	broad.mit.edu	37	chr19	36211852	36211852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgcctgtggtgagtgccCgctcctcccgtgtcatcaag	11	13	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:36211852C>T	uc010eei.2	+	3	1603	c.1603C>T	c.(1603-1605)CGC>TGC	p.R535C		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	535	Pro-rich.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTGAGTGCCCGCTCCTCCCG	0.597													T	36211852	C	T	36211852	3	4	45	1	0	0	0	0	1	0	0	0	9623	652	23	1	1613	1	MLL4	19	36211852	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	361376	36211852	22917131	1188	37544											
LRFN3	79414	broad.mit.edu	37	chr19	36431074	36431074	+	Frame_Shift_Del	DEL	C	C	-													gtgctggcctttggcgggaaCcccctgcactgcaactgcga							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:36431073_36431073AC>A	uc002oco.3	+	1	1198	c.746_746AC>A	c.(745-747)aacfs	p.N249fs		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA.	249	LRRCT.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTTGGCGGGAACCCCCTGCAC	0.731													-	36431074	C	-	36431074	7	5	45	1	0	1	0	1	0	0	0	0	8939	506	18	0	749	0	LRFN3	19	36431074	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	219222	36431074	22697909	1189	37545											
ZNF565	147929	broad.mit.edu	37	chr19	36686014	36686014	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggttccaggcacttccattcTtccagagagaactctatggc	9	12	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:36686014T>A	uc002odn.2	-	3	162	c.54A>T	c.(52-54)GAA>GAT	p.E18D	ZNF565_uc010ees.2_Translation_Start_Site|ZNF565_uc002odo.2_Missense_Mutation_p.E18D|ZNF565_uc002odp.1_Missense_Mutation_p.E18D	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	zinc finger protein 565	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			ACTTCCATTCTTCCAGAGAGA	0.443													A	36686014	T	A	36686014	3	1	45	1	0	0	0	0	1	0	0	0	17993	1606	56	5	1457	5	ZNF565	19	36686014	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	254940	36686014	22442969	1190	37546											
HKR1	284459	broad.mit.edu	37	chr19	37854405	37854405	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaagcctaacctgtttAggcacaagagggcacactca	11	11	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:37854405A>C	uc002ogb.2	+	6	1977	c.1708A>C	c.(1708-1710)AGG>CGG	p.R570R	HKR1_uc002ofx.2_Silent_p.R286R|HKR1_uc002ofy.2_Silent_p.R286R|HKR1_uc002oga.2_Silent_p.R552R|HKR1_uc010xto.1_Silent_p.R552R|HKR1_uc002ogc.2_Silent_p.R551R|HKR1_uc010xtp.1_Silent_p.R509R|HKR1_uc002ogd.2_Silent_p.R509R	NM_181786	NP_861451	P10072	HKR1_HUMAN	GLI-Kruppel family member HKR1	570	C2H2-type 10.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAACCTGTTTAGGCACAAGAG	0.507													C	37854405	A	C	37854405	2	2	45	1	0	0	0	0	0	0	0	1	7194	411	15	5		5	HKR1	19	37854405	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	1168391	37854405	21274578	1191	37547											
ZNF569	148266	broad.mit.edu	37	chr19	37905171	37905171	+	Frame_Shift_Del	DEL	A	A	-													agagattgtgtctggaagggAaaaaatcagagttcagagga							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:37905170_37905170GA>G	uc002ogj.3	-	8	1394	c.462_462TC>C	c.(460-462)ttcfs	p.F154fs	ZNF569_uc002ogh.3_5'UTR|ZNF569_uc002ogi.3_Frame_Shift_Del_p.F130fs	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTCTGGAAGGGAAAAAATCAG	0.328													-	37905171	A	-	37905171	7	5	45	1	0	1	0	1	0	0	0	0	17997	246	9	0	1675	0	ZNF569	19	37905171	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	50766	37905171	21223812	1192	37548											
PPP1R14A	94274	broad.mit.edu	37	chr19	38742064	38742064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggaggccttgaagctttGccagcagctcctggatgaag	14	9	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:38742064G>A	uc002ohq.2	-	4	531	c.338C>T	c.(337-339)GCA>GTA	p.A113V	PPP1R14A_uc010efv.2_Missense_Mutation_p.A86V	NM_033256	NP_150281	Q96A00	PP14A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	113	Inhibitory.				regulation of phosphorylation	cytoplasm	protein binding|protein phosphatase inhibitor activity				0	all_cancers(60;9.57e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TTGAAGCTTTGCCAGCAGCTC	0.687													A	38742064	G	A	38742064	3	1	45	1	0	0	0	0	1	0	0	0	12359	1319	46	2	109	2	PPP1R14A	19	38742064	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	836893	38742064	20386919	1193	37549											
HNRNPL	3191	broad.mit.edu	37	chr19	39329634	39329634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaccatggcggcccccgGcttgcttttcatgaatttca	8	15	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:39329634G>A	uc010xul.1	-	9	1266	c.1255C>T	c.(1255-1257)CCG>TCG	p.P419S	HNRNPL_uc010ege.1_Intron|HNRNPL_uc002ojj.1_Missense_Mutation_p.P75S|HNRNPL_uc002ojo.1_5'UTR|HNRNPL_uc002ojk.2_Missense_Mutation_p.P75S|HNRNPL_uc002ojl.2_Missense_Mutation_p.P75S|HNRNPL_uc010xum.1_Missense_Mutation_p.P286S|HNRNPL_uc002ojp.1_Missense_Mutation_p.P75S	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	419	RRM 3.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GCGGCCCCCGGCTTGCTTTTC	0.557													A	39329634	G	A	39329634	3	1	45	1	0	0	0	0	1	0	0	0	7270	1203	42	2	534	2	HNRNPL	19	39329634	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	587570	39329634	19799349	1194	37550											
MAP3K10	4294	broad.mit.edu	37	chr19	40704384	40704384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacaagaccaccaagatgaGcgctgcggggacctacgcct	12	14	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:40704384G>A	uc002ona.2	+	2	1073	c.785G>A	c.(784-786)AGC>AAC	p.S262N	MAP3K10_uc002onb.2_5'UTR	NM_002446	NP_002437	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase	262	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			ovary(2)|lung(2)|skin(1)|pancreas(1)	6						ACCAAGATGAGCGCTGCGGGG	0.622													A	40704384	G	A	40704384	3	1	45	1	0	0	0	0	1	0	0	0	9244	971	34	2	791	2	MAP3K10	19	40704384	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1374750	40704384	18424599	1195	37551											
HIPK4	147746	broad.mit.edu	37	chr19	40886552	40886552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccatcatgtcggagaccGcattggtgcaggtctcaccc	12	13	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:40886552G>A	uc002onp.2	-	3	1631	c.1346C>T	c.(1345-1347)GCG>GTG	p.A449V		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	449						cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GTCGGAGACCGCATTGGTGCA	0.632													A	40886552	G	A	40886552	3	1	45	1	0	0	0	0	1	0	0	0	7119	1087	38	1	512	1	HIPK4	19	40886552	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	182168	40886552	18242431	1196	37552											
C19orf54	284325	broad.mit.edu	37	chr19	41248565	41248565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggggagccctcctctgGcagggatggtggttggcagg	18	11	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:41248565G>A	uc002oou.1	-	6	949	c.829C>T	c.(829-831)CCA>TCA	p.P277S	C19orf54_uc002oow.1_Missense_Mutation_p.P105S|C19orf54_uc002oox.1_RNA|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_RNA	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	hypothetical protein LOC284325	277											0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCTCCTCTGGCAGGGATGGT	0.652													A	41248565	G	A	41248565	3	1	45	1	0	0	0	0	1	0	0	0	1936	1203	42	2	230	2	C19orf54	19	41248565	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	362013	41248565	17880418	1197	37553											
TGFB1	7040	broad.mit.edu	37	chr19	41836966	41836967	+	Frame_Shift_Ins	INS	-	-	T													gggcgggacctcagctgcacINSttgcaggagcgcacgatcat							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:41836966_41836967insT	uc002oqh.1	-	7	2030_2031	c.1163_1164insA	c.(1162-1164)AAGfs	p.K388fs	CYP2F1_uc010xvw.1_Intron	NM_000660	NP_000651	P01137	TGFB1_HUMAN	transforming growth factor, beta 1 precursor	388					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding				0					Hyaluronidase(DB00070)	CTCAGCTGCACTTGCAGGAGCG	0.465													T	41836967	-	T	41836966	7	5	45	1	0	1	1	0	0	0	0	0	15813	564	20	0	12	0	TGFB1	19	41836966	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	588401	41836966	17292017	1198	37554											
B9D2	80776	broad.mit.edu	37	chr19	41860739	41860739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccccatgcagcagctgcgGcccaccacccacgaaagccc	9	20	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:41860739G>A	uc002oqj.2	-	4	614	c.394C>T	c.(394-396)CCG>TCG	p.P132S	CYP2F1_uc010xvw.1_Intron|TGFB1_uc002oqh.1_5'Flank|TMEM91_uc002oqi.2_Intron	NM_030578	NP_085055	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	132					cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			ovary(1)	1						AGCAGCTGCGGCCCACCACCC	0.687													A	41860739	G	A	41860739	3	1	45	1	0	0	0	0	1	0	0	0	1278	1203	42	2	137	2	B9D2	19	41860739	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	23773	41860739	17268244	1199	37555											
ZNF526	116115	broad.mit.edu	37	chr19	42729561	42729561	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggcacacatgagtgtacaAcctgctccaaggtcttcaag	10	11	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:42729561A>G	uc002osz.1	+	3	1162	c.1006A>G	c.(1006-1008)ACC>GCC	p.T336A		NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	zinc finger protein 526	336	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0704)				TGAGTGTACAACCTGCTCCAA	0.617													G	42729561	A	G	42729561	3	3	45	1	0	0	0	0	1	0	0	0	17964	43	2	3	1008	3	ZNF526	19	42729561	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	868822	42729561	16399422	1200	37556											
ZNF526	116115	broad.mit.edu	37	chr19	42730480	42730480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagacatcccagccactggCgcttgaggacaccctgcagc	11	15	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:42730480C>T	uc002osz.1	+	3	2081	c.1925C>T	c.(1924-1926)GCG>GTG	p.A642V		NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	zinc finger protein 526	642					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0704)				CAGCCACTGGCGCTTGAGGAC	0.617													T	42730480	C	T	42730480	3	4	45	1	0	0	0	0	1	0	0	0	17964	768	27	1	1927	1	ZNF526	19	42730480	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	919	42730480	16398503	1201	37557											
CIC	23152	broad.mit.edu	37	chr19	42796883	42796884	+	Frame_Shift_Ins	INS	-	-	C													ctggcccagccatcccaggcINSccccccaagcctggtctaca							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:42796882_42796883G>GC	uc002otf.1	+	13	3380_3381	c.3340_3341G>GC	c.(3340-3342)gccfs	p.A1114fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1114	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.S1117fs*34(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCATCCCAGGCCCCCCCAAGC	0.683			"Mis, F, S"		oligodendroglioma								C	42796884	-	C	42796883	7	5	45	1	0	1	1	0	0	0	0	0	3424	739	26	0	3395	0	CIC	19	42796883	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	66403	42796883	16332100	1202	37558											
MEGF8	1954	broad.mit.edu	37	chr19	42848624	42848624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgcctgggcctgggccGcctcctgggtgactgccagg	16	15	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:42848624G>A	uc002otl.3	+	11	2455	c.1820G>A	c.(1819-1821)CGC>CAC	p.R607H	MEGF8_uc002otm.3_Missense_Mutation_p.R148H	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	607	Extracellular (Potential).|PSI 1.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				GGCCTGGGCCGCCTCCTGGGT	0.672													A	42848624	G	A	42848624	3	1	45	1	0	0	0	0	1	0	0	0	9463	1087	38	1	1862	1	MEGF8	19	42848624	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	51741	42848624	16280359	1203	37559											
PSG1	5669	broad.mit.edu	37	chr19	43382143	43382143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtgtaaggtgtaggatcCtgcgtcctcccgggtgacat	14	9	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:43382143C>T	uc002ovb.2	-	2	490	c.352G>A	c.(352-354)GGA>AGA	p.G118R	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.G118R|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.G118R|PSG1_uc010eio.1_Missense_Mutation_p.G118R|PSG1_uc002oux.1_Missense_Mutation_p.G47R|PSG1_uc002ouy.1_Missense_Mutation_p.G118R|PSG1_uc002ouz.1_Missense_Mutation_p.G118R|PSG1_uc002ova.1_Missense_Mutation_p.G118R|PSG1_uc002ovc.2_Missense_Mutation_p.G118R|PSG1_uc002ovd.1_Missense_Mutation_p.G118R	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	118	Ig-like V-type.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				GTGTAGGATCCTGCGTCCTCC	0.468													T	43382143	C	T	43382143	3	4	45	1	0	0	0	0	1	0	0	0	12653	690	24	4	980	4	PSG1	19	43382143	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	533519	43382143	15746840	1204	37560											
ZNF225	7768	broad.mit.edu	37	chr19	44622395	44622395	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcactgaggaagagctgaggCtgctggaccttgcccagagg	15	10	1	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:44622395C>G	uc002oyj.1	+	3	313	c.70C>G	c.(70-72)CTG>GTG	p.L24V	ZNF225_uc010eje.1_5'UTR|ZNF225_uc010ejf.1_Missense_Mutation_p.L24V	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				AGAGCTGAGGCTGCTGGACCT	0.527													G	44622395	C	G	44622395	3	3	45	1	0	0	0	0	1	0	0	0	17776	796	28	5	76	5	ZNF225	19	44622395	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1240252	44622395	14506588	1205	37561											
ZNF235	9310	broad.mit.edu	37	chr19	44792076	44792076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtatggaccctctgatgGctctggaaacttgaggctga	12	10	2	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:44792076G>A	uc002oza.3	-	5	1615	c.1512C>T	c.(1510-1512)AGC>AGT	p.S504S	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Silent_p.S500S|ZNF235_uc010xwx.1_Silent_p.S418S	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	504	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)				CCCTCTGATGGCTCTGGAAAC	0.438													A	44792076	G	A	44792076	2	1	45	1	0	0	0	0	0	0	0	1	17785	1194	42	2		2	ZNF235	19	44792076	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	169681	44792076	14336907	1206	37562											
PVRL2	5819	broad.mit.edu	37	chr19	45385524	45385524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcatcgggggcatcatcGccgccatcattgctactgct	10	14	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:45385524G>A	uc002ozw.1	+	6	1489	c.1099G>A	c.(1099-1101)GCC>ACC	p.A367T		NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	poliovirus receptor related 2 isoform delta	367	Helical; (Potential).				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GGGCATCATCGCCGCCATCAT	0.652													A	45385524	G	A	45385524	3	1	45	1	0	0	0	0	1	0	0	0	12840	1087	38	1	1523	1	PVRL2	19	45385524	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	593448	45385524	13743459	1207	37563											
MARK4	57787	broad.mit.edu	37	chr19	45783878	45783878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggccctggcacgggtgCgggcgcccagcgacaccacc	16	17	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:45783878C>T	uc002pbb.1	+	12	1167	c.1162C>T	c.(1162-1164)CGG>TGG	p.R388W	MARK4_uc002paz.1_3'UTR|MARK4_uc002pba.1_Missense_Mutation_p.R388W|MARK4_uc002pbc.1_Missense_Mutation_p.R254W			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;	388					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGCACGGGTGCGGGCGCCCAG	0.677													T	45783878	C	T	45783878	3	4	45	1	0	0	0	0	1	0	0	0	9315	759	27	1	1208	1	MARK4	19	45783878	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	398354	45783878	13345105	1208	37564											
FAM83E	54854	broad.mit.edu	37	chr19	49107020	49107020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggccccgctgcaggccacCtatgaccgagggtttctggg	15	14	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:49107020C>T	uc002pjn.2	-	4	972	c.907G>A	c.(907-909)GGT>AGT	p.G303S	SPACA4_uc002pjo.2_5'Flank	NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	hypothetical protein LOC54854	303										ovary(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TGCAGGCCACCTATGACCGAG	0.736													T	49107020	C	T	49107020	3	4	45	1	0	0	0	0	1	0	0	0	5637	681	24	4	537	4	FAM83E	19	49107020	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3323142	49107020	10021963	1209	37565											
MAMSTR	284358	broad.mit.edu	37	chr19	49218106	49218107	+	Frame_Shift_Ins	INS	-	-	G													ctgaagttccaacttgtgtgINSgggggggcgaggggctaggg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:49218105_49218106T>TG	uc002pkg.2	-	5	547_548	c.485_486A>CA	c.(484-486)ccafs	p.P162fs	MAMSTR_uc002pkf.2_Frame_Shift_Ins_p.P59fs	NM_001130915	NP_872380	Q6ZN01	MASTR_HUMAN	Homo sapiens MEF2 activating motif and SAP domain containing transcriptional regulator (MAMSTR), transcript variant 1, mRNA.	162	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						CCAACTTGTGTGGGGGGGGCGA	0.569													G	49218107	-	G	49218106	7	5	45	1	0	1	1	0	0	0	0	0	9209	1348	47	0	782	0	MAMSTR	19	49218106	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	111086	49218106	9910877	1210	37566											
RPL13A	23521	broad.mit.edu	37	chr19	49993758	49993758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggctttcctccgcaagCggatgaacaccaacccttcc	7	17	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:49993758C>T	uc002pny.2	+	4	203	c.181C>T	c.(181-183)CGG>TGG	p.R61W	RPL13A_uc002pnz.2_5'UTR|RPL13A_uc002poa.2_Missense_Mutation_p.R51W|SNORD33_uc010emz.1_5'Flank|SNORD34_uc010ena.1_5'Flank|SNORD35A_uc010enb.1_5'Flank	NM_012423	NP_036555	P40429	RL13A_HUMAN	ribosomal protein L13a	61					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome				0		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CCTCCGCAAGCGGATGAACAC	0.642													T	49993758	C	T	49993758	3	4	45	1	0	0	0	0	1	0	0	0	13560	759	27	1	195	1	RPL13A	19	49993758	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	775652	49993758	9135225	1211	37567											
SCAF1	58506	broad.mit.edu	37	chr19	50154616	50154616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagagcccccgcccggacGcgcagcccacacagccgact	11	20	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:50154616G>A	uc002poq.2	+	7	1094	c.970G>A	c.(970-972)GCG>ACG	p.A324T		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	324					mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCGCCCGGACGCGCAGCCCAC	0.701													A	50154616	G	A	50154616	3	1	45	1	0	0	0	0	1	0	0	0	13868	1087	38	1	992	1	SCAF1	19	50154616	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	160858	50154616	8974367	1212	37568											
LRRC4B	94030	broad.mit.edu	37	chr19	51022666	51022666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttgaacgtgtccgtccGgatcacctggggagagggag	17	9	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:51022666G>A	uc002pss.2	-	3	441	c.304C>T	c.(304-306)CGG>TGG	p.R102W		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	102	LRR 1.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTGTCCGTCCGGATCACCTGG	0.652													A	51022666	G	A	51022666	3	1	45	1	0	0	0	0	1	0	0	0	9007	1115	39	1	1841	1	LRRC4B	19	51022666	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	868050	51022666	8106317	1213	37569											
KLK8	11202	broad.mit.edu	37	chr19	51503767	51503767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggccctggaacaaggccGcctgccaaggctgcgaatgg	15	13	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:51503767G>A	uc002pur.1	-	3	322	c.143C>T	c.(142-144)GCG>GTG	p.A48V	KLK9_uc002puw.1_RNA|KLK8_uc002puq.1_Missense_Mutation_p.A93V|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Missense_Mutation_p.A48V|KLK9_uc002puv.1_Intron	NM_007196	NP_009127	O60259	KLK8_HUMAN	kallikrein 8 isoform 1 preproprotein	48	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GAACAAGGCCGCCTGCCAAGG	0.597													A	51503767	G	A	51503767	3	1	45	1	0	0	0	0	1	0	0	0	8410	1087	38	1	655	1	KLK8	19	51503767	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	481101	51503767	7625216	1214	37570											
ZNF347	84671	broad.mit.edu	37	chr19	53644036	53644036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgccacattcattacacTggtaaggtttacctccagta	6	11	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:53644036T>C	uc002qbb.1	-	5	2114	c.2045A>G	c.(2044-2046)CAG>CGG	p.Q682R	ZNF347_uc010eql.1_Missense_Mutation_p.Q683R|ZNF347_uc002qbc.1_Missense_Mutation_p.Q683R	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	682	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		TTCATTACACTGGTAAGGTTT	0.423													C	53644036	T	C	53644036	3	2	45	1	0	0	0	0	1	0	0	0	17858	1580	55	3	478	3	ZNF347	19	53644036	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	2140269	53644036	5484947	1215	37571											
ZNF677	342926	broad.mit.edu	37	chr19	53741121	53741121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatttgtaaggtctctgtcCagagtgaattctctgatgat	9	7	2	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:53741121C>T	uc002qbf.1	-	5	1044	c.859G>A	c.(859-861)GGA>AGA	p.G287R	ZNF677_uc002qbg.1_Missense_Mutation_p.G287R	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)		GGTCTCTGTCCAGAGTGAATT	0.413													T	53741121	C	T	53741121	3	4	45	1	0	0	0	0	1	0	0	0	18081	603	21	4	899	4	ZNF677	19	53741121	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	97085	53741121	5387862	1216	37572											
NLRP12	91662	broad.mit.edu	37	chr19	54297338	54297338	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaataaggttttgttactcGaagcgctgccaacctactgt	8	10	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:54297338G>A	uc002qch.3	-	10	3371	c.3151C>T	c.(3151-3153)CGA>TGA	p.R1051*	NLRP12_uc010eqw.2_Nonsense_Mutation_p.R277*|NLRP12_uc002qci.3_Nonsense_Mutation_p.R994*|NLRP12_uc002qcj.3_Nonsense_Mutation_p.R1052*|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_3'UTR	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	1051					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTTGTTACTCGAAGCGCTGCC	0.478													A	54297338	G	A	54297338	4	1	45	1	0	0	0	0	0	1	0	0	10474	1066	37	1	38	1	NLRP12	19	54297338	Nonsense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	556217	54297338	4831645	1217	37573											
MYADM	91663	broad.mit.edu	37	chr19	54376803	54376803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgccagtgacggtaacccGcaccaccatcacaaccacca	6	18	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:54376803G>A	uc002qcl.2	+	3	168	c.20G>A	c.(19-21)CGC>CAC	p.R7H	MYADM_uc002qcm.2_Missense_Mutation_p.R7H|MYADM_uc002qcn.2_Missense_Mutation_p.R7H|MYADM_uc002qco.2_Missense_Mutation_p.R7H|MYADM_uc002qcp.2_Missense_Mutation_p.R7H	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	7						integral to membrane				ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		ACGGTAACCCGCACCACCATC	0.587											OREG0003650	type=REGULATORY REGION|Gene=MYADM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	54376803	G	A	54376803	3	1	45	1	0	0	0	0	1	0	0	0	10006	1087	38	1	22	1	MYADM	19	54376803	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	79465	54376803	4752180	1218	37574											
PRKCG	5582	broad.mit.edu	37	chr19	54401306	54401306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcggggcgagtccaggaCgcctgcacatctccgacttc	11	15	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:54401306C>T	uc002qcq.1	+	10	1315	c.1033C>T	c.(1033-1035)CGC>TGC	p.R345C	PRKCG_uc010yef.1_Silent_p.D315D|PRKCG_uc010yeg.1_Missense_Mutation_p.R345C|PRKCG_uc010yeh.1_Missense_Mutation_p.R232C	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	345					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GAGTCCAGGACGCCTGCACAT	0.493													T	54401306	C	T	54401306	3	4	45	1	0	0	0	0	1	0	0	0	12512	536	19	1	1071	1	PRKCG	19	54401306	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	24503	54401306	4727677	1219	37575											
PRKCG	5582	broad.mit.edu	37	chr19	54403976	54403976	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgacaacccgcaccttctgCgggaccccggactacatagc	9	17	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:54403976C>T	uc002qcq.1	+	14	1830	c.1548C>T	c.(1546-1548)TGC>TGT	p.C516C	PRKCG_uc010yeg.1_Silent_p.C516C|PRKCG_uc010yeh.1_Silent_p.C403C	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	516	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GCACCTTCTGCGGGACCCCGG	0.557													T	54403976	C	T	54403976	2	4	45	1	0	0	0	0	0	0	0	1	12512	776	27	1		1	PRKCG	19	54403976	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2670	54403976	4725007	1220	37576											
LENG1	79165	broad.mit.edu	37	chr19	54662025	54662025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaggccagcttactttctCctgtcgcttttcttcctcgt	8	13	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:54662025C>T	uc002qdm.2	-	2	320	c.307G>A	c.(307-309)GAG>AAG	p.E103K		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	103	Potential.									ovary(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTTACTTTCTCCTGTCGCTTT	0.537													T	54662025	C	T	54662025	3	4	45	1	0	0	0	0	1	0	0	0	8723	864	30	4	499	4	LENG1	19	54662025	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	258049	54662025	4466958	1221	37577											
LILRB3	11025	broad.mit.edu	37	chr19	54720971	54720971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccccccgggctagtggatGgccagagtggcgtagatgct	15	11	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:54720971G>A	uc002qef.1	-	13	1998	c.1887C>T	c.(1885-1887)GCC>GCT	p.A629A	LILRB3_uc002qee.1_Silent_p.A630A|LILRB3_uc002qeh.1_Silent_p.A629A|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Silent_p.A629A|LILRA6_uc002qek.1_Silent_p.A630A|LILRB3_uc010erh.1_Silent_p.A646A|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Silent_p.A629A|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.A630A|LILRB3_uc002qep.1_Silent_p.A630A|LILRB3_uc002qeq.1_Silent_p.A629A|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Silent_p.A630A	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	629	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			skin(2)|ovary(1)	3	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCTAGTGGATGGCCAGAGTGG	0.632													A	54720971	G	A	54720971	2	1	45	1	0	0	0	0	0	0	0	1	8792	1335	47	4		4	LILRB3	19	54720971	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	58946	54720971	4408012	1222	37578											
PEG3	5178	broad.mit.edu	37	chr19	57328239	57328239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctctagcatgaatcttcCgatgttcagccaaggcggca	9	12	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:57328239C>T	uc002qnu.2	-	7	1922	c.1571G>A	c.(1570-1572)CGG>CAG	p.R524Q	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R495Q|PEG3_uc002qnv.2_Missense_Mutation_p.R524Q|PEG3_uc002qnw.2_Missense_Mutation_p.R400Q|PEG3_uc002qnx.2_Missense_Mutation_p.R398Q|PEG3_uc010etr.2_Missense_Mutation_p.R524Q	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	524	C2H2-type 2.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATGAATCTTCCGATGTTCAGC	0.443													T	57328239	C	T	57328239	3	4	45	1	0	0	0	0	1	0	0	0	11720	652	23	1	3199	1	PEG3	19	57328239	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2607268	57328239	1800744	1223	37579											
ZNF416	55659	broad.mit.edu	37	chr19	58084147	58084147	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatggcttttctcctgtgtgAgttctctggtgtcgaacaag	11	8	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:58084147A>C	uc002qpf.2	-	4	1296	c.1125T>G	c.(1123-1125)ACT>ACG	p.T375T	ZNF547_uc002qpm.3_Intron	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	375	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTCCTGTGTGAGTTCTCTGGT	0.438													C	58084147	A	C	58084147	2	2	45	1	0	0	0	0	0	0	0	1	17890	291	11	5		5	ZNF416	19	58084147	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	755908	58084147	1044836	1224	37580											
ZNF417	147687	broad.mit.edu	37	chr19	58420174	58420174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacattcattgcattcatacGgcctttctccagtgtgaatc	6	12	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:58420174G>A	uc002qqq.2	-	3	1671	c.1472C>T	c.(1471-1473)CCG>CTG	p.P491L	ZNF417_uc010yhm.1_Missense_Mutation_p.P448L|ZNF417_uc002qqr.2_Missense_Mutation_p.P490L	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		GCATTCATACGGCCTTTCTCC	0.413													A	58420174	G	A	58420174	3	1	45	1	0	0	0	0	1	0	0	0	17891	1116	39	1	259	1	ZNF417	19	58420174	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	336027	58420174	708809	1225	37581											
ZSCAN18	65982	broad.mit.edu	37	chr19	58600162	58600162	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctctcgtacactccatcgCtaagaattgaggatgagccc	9	13	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:58600162C>A	uc002qri.2	-	3	755	c.446G>T	c.(445-447)AGC>ATC	p.S149I	ZSCAN18_uc002qrj.3_Missense_Mutation_p.S149I|ZSCAN18_uc010yhs.1_Missense_Mutation_p.S14I|ZSCAN18_uc002qrh.2_Missense_Mutation_p.S149I|ZSCAN18_uc010yht.1_Missense_Mutation_p.S205I|ZSCAN18_uc002qrk.1_Missense_Mutation_p.S149I|ZSCAN18_uc002qrl.2_Missense_Mutation_p.S149I	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	149					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CACTCCATCGCTAAGAATTGA	0.617													A	58600162	C	A	58600162	3	1	45	1	0	0	0	0	1	0	0	0	18227	797	28	5	1106	5	ZSCAN18	19	58600162	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	179988	58600162	528821	1226	37582											
ZNF497	162968	broad.mit.edu	37	chr19	58868484	58868484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggatgagctgcgagtgcGcgcggaaggccttgccgcac	18	11	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:58868484G>A	uc002qsh.1	-	3	707	c.518C>T	c.(517-519)GCG>GTG	p.A173V	A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Missense_Mutation_p.A173V|uc002qsj.1_5'UTR|uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	173	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		CTGCGAGTGCGCGCGGAAGGC	0.677													A	58868484	G	A	58868484	3	1	45	1	0	0	0	0	1	0	0	0	17943	1087	38	1	982	1	ZNF497	19	58868484	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	268322	58868484	260499	1227	37583											
ZBTB45	84878	broad.mit.edu	37	chr19	59028581	59028581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgcagccagcaggtggcGcaggcggtgacgcagctgcg	18	12	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr19:59028581G>A	uc002qtd.2	-	2	752	c.460C>T	c.(460-462)CGC>TGC	p.R154C	ZBTB45_uc002qte.2_Missense_Mutation_p.R154C|ZBTB45_uc002qtf.2_Missense_Mutation_p.R154C	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	154	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		AGCAGGTGGCGCAGGCGGTGA	0.751											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	59028581	G	A	59028581	3	1	45	1	0	0	0	0	1	0	0	0	17543	1087	38	1	1083	1	ZBTB45	19	59028581	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	160097	59028581	100402	1228	37584											
TGM6	343641	broad.mit.edu	37	chr20	2384126	2384126	+	Frame_Shift_Del	DEL	C	C	-													ctggcaggttctggatgccaCcccccaggaggagagtgaag							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:2384125_2384125AC>A	uc002wfy.1	+	7	1133	c.1072_1072AC>A	c.(1072-1074)accfs	p.T358fs	TGM6_uc010gal.1_Frame_Shift_Del_p.T358fs	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	358					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TCTGGATGCCACCCCCCAGGA	0.577													-	2384126	C	-	2384126	7	5	45	1	0	1	0	1	0	0	0	0	15831	507	18	0	1103	0	TGM6	20	2384126	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08		2384126	60641394	1229	37585											
SIGLEC1	6614	broad.mit.edu	37	chr20	3683917	3683917	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctcacagaagtagaagccAgtatcagccctagtggccaa	9	12	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:3683917A>G	uc002wja.2	-	5	1155	c.1155T>C	c.(1153-1155)ACT>ACC	p.T385T	SIGLEC1_uc002wiz.3_Silent_p.T385T|SIGLEC1_uc002wjc.2_Silent_p.T296T	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	385	Extracellular (Potential).|Ig-like C2-type 3.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						AGTAGAAGCCAGTATCAGCCC	0.607													G	3683917	A	G	3683917	2	3	45	1	0	0	0	0	0	0	0	1	14305	175	7	3		3	SIGLEC1	20	3683917	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	1299791	3683917	59341603	1230	37586											
C20orf196	149840	broad.mit.edu	37	chr20	5843700	5843700	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttaaatatagaacaaaataActcctggaccgctgagaact	6	9	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:5843700A>C	uc002wmf.2	+	3	296	c.209A>C	c.(208-210)AAC>ACC	p.N70T		NM_152504	NP_689717	Q8IYI0	CT196_HUMAN	hypothetical protein LOC149840	70											0						GAACAAAATAACTCCTGGACC	0.423													C	5843700	A	C	5843700	3	2	45	1	0	0	0	0	1	0	0	0	2101	43	2	5	215	5	C20orf196	20	5843700	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	2159783	5843700	57181820	1231	37587											
BMP2	650	broad.mit.edu	37	chr20	6759223	6759223	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacacgccaaccatggattCgtggtggaagtggcccactt	13	11	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:6759223C>T	uc002wmu.1	+	3	1463	c.678C>T	c.(676-678)TTC>TTT	p.F226F		NM_001200	NP_001191	P12643	BMP2_HUMAN	bone morphogenetic protein 2 preproprotein	226					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			ovary(1)|breast(1)	2					Simvastatin(DB00641)	ACCATGGATTCGTGGTGGAAG	0.522													T	6759223	C	T	6759223	2	4	45	1	0	0	0	0	0	0	0	1	1459	883	31	1		1	BMP2	20	6759223	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	915523	6759223	56266297	1232	37588											
SLC24A3	57419	broad.mit.edu	37	chr20	19662610	19662610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgacagcagcaactgcgaCgcaactgtggtgctacttaa	11	10	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:19662610C>T	uc002wrl.2	+	10	1073	c.876C>T	c.(874-876)GAC>GAT	p.D292D		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	292	Cytoplasmic (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						GCAACTGCGACGCAACTGTGG	0.333													T	19662610	C	T	19662610	2	4	45	1	0	0	0	0	0	0	0	1	14467	535	19	1		1	SLC24A3	20	19662610	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	12903387	19662610	43362910	1233	37589											
C20orf26	26074	broad.mit.edu	37	chr20	20258008	20258008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcactatgtaccgggatgCgatcctggcccagtggaatg	13	10	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:20258008C>T	uc002wru.2	+	22	2778	c.2702C>T	c.(2701-2703)GCG>GTG	p.A901V	C20orf26_uc010zse.1_Missense_Mutation_p.A881V|C20orf26_uc002wrw.2_RNA	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	901										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		TACCGGGATGCGATCCTGGCC	0.632													T	20258008	C	T	20258008	3	4	45	1	0	0	0	0	1	0	0	0	2106	768	27	1	2816	1	C20orf26	20	20258008	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	595398	20258008	42767512	1234	37590											
ZNF337	26152	broad.mit.edu	37	chr20	25656021	25656021	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccttccagttgaagcctcGcccacactccttgcatacaa	5	17	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:25656021G>A	uc002wva.2	-	4	2425	c.1903C>T	c.(1903-1905)CGA>TGA	p.R635*	uc002wuz.2_RNA|ZNF337_uc010ztg.1_Nonsense_Mutation_p.R603*|ZNF337_uc002wvb.2_Nonsense_Mutation_p.R635*|ZNF337_uc002wvc.2_Nonsense_Mutation_p.R635*	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	635	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTGAAGCCTCGCCCACACTCC	0.502													A	25656021	G	A	25656021	4	1	45	1	0	0	0	0	0	1	0	0	17850	1095	38	1	356	1	ZNF337	20	25656021	Nonsense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	5398013	25656021	37369499	1235	37591											
ZNF337	26152	broad.mit.edu	37	chr20	25657112	25657112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgacttactggtatagcctCgtccacacaccttgcacaga	7	13	0	2	rs147339647	by1000genomes	TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:25657112C>T	uc002wva.2	-	4	1334	c.812G>A	c.(811-813)CGA>CAA	p.R271Q	uc002wuz.2_RNA|ZNF337_uc010ztg.1_Missense_Mutation_p.R239Q|ZNF337_uc002wvb.2_Missense_Mutation_p.R271Q|ZNF337_uc002wvc.2_Missense_Mutation_p.R271Q	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	271	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGTATAGCCTCGTCCACACAC	0.522													T	25657112	C	T	25657112	3	4	45	1	0	0	0	0	1	0	0	0	17850	884	31	1	1447	1	ZNF337	20	25657112	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1091	25657112	37368408	1236	37592											
C20orf160	140706	broad.mit.edu	37	chr20	30602812	30602812	+	Frame_Shift_Del	DEL	C	C	-													tgcactcgatgcccctttatCcccccgactacctcatcgac							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:30602811_30602811TC>T	uc002wxf.2	+	1	148	c.135_135TC>T	c.(133-135)tatfs	p.Y45fs		NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	Homo sapiens chromosome 20 open reading frame 160 (C20orf160), mRNA.	45										central_nervous_system(3)|endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	23						TGCCCCTTTATCCCCCCGACT	0.627													-	30602812	C	-	30602812	7	5	45	1	0	1	0	1	0	0	0	0	2093	855	30	0	142	0	C20orf160	20	30602812	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	4945700	30602812	32422708	1237	37593											
E2F1	1869	broad.mit.edu	37	chr20	32264963	32264963	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgtggtgagggatgagggGggagatgatggtggtggtga	23	1	1	5			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:32264963G>T	uc002wzu.3	-	6	1154	c.1014C>A	c.(1012-1014)CCC>CCA	p.P338P	NECAB3_uc002wzm.3_5'Flank|NECAB3_uc002wzn.3_5'Flank|NECAB3_uc002wzo.3_5'Flank|NECAB3_uc002wzp.3_5'Flank|NECAB3_uc002wzq.3_5'Flank|NECAB3_uc002wzr.3_5'Flank|NECAB3_uc010geo.2_5'Flank	NM_005225	NP_005216	Q01094	E2F1_HUMAN	E2F transcription factor 1	338	Required for interaction with TRIM28.				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding				0						GGGATGAGGGGGGAGATGATG	0.622													T	32264963	G	T	32264963	2	4	45	1	0	0	0	0	0	0	0	1	4866	1219	43	5		5	E2F1	20	32264963	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1662151	32264963	30760557	1238	37594											
RALY	22913	broad.mit.edu	37	chr20	32664892	32664892	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcggtggtggtggcagCggtggcggtggcagtggtgg	26	6	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:32664892C>A	uc002xab.2	+	8	1015	c.717C>A	c.(715-717)AGC>AGA	p.S239R	RALY_uc002xac.2_Missense_Mutation_p.S223R|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.S239R	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	RNA binding protein (autoantigenic,	239	Epitope (recognized by BKRF1 antibodies).|Poly-Gly.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(1)	1						gtggtggcagcggtggcggtg	0.368													A	32664892	C	A	32664892	3	1	45	1	0	0	0	0	1	0	0	0	13019	767	27	5	739	5	RALY	20	32664892	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	399929	32664892	30360628	1239	37595											
C20orf152	140894	broad.mit.edu	37	chr20	34572693	34572693	+	Frame_Shift_Del	DEL	T	T	-													atgctcagtatcggtttgaaTtttttaggtaactctgcctt							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:34572692_34572692AT>A	uc002xer.1	+	5	864	c.708_708AT>A	c.(706-708)gaafs	p.E236fs	C20orf152_uc002xes.1_Frame_Shift_Del_p.E236fs|C20orf152_uc010gfp.1_Non-coding_Transcript	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	236										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					ATCGGTTTGAATTTTTTAGGT	0.443													-	34572693	T	-	34572693	7	5	45	1	0	1	0	1	0	0	0	0	2092	1493	52	0	731	0	C20orf152	20	34572693	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	1907801	34572693	28452827	1240	37596											
PPP1R16B	26051	broad.mit.edu	37	chr20	37464809	37464809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctcgctgaggaacgacGccgaggaaggtaggcccctc	15	13	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:37464809G>A	uc002xje.2	+	2	430	c.241G>A	c.(241-243)GCC>ACC	p.A81T	PPP1R16B_uc010ggc.2_Missense_Mutation_p.A81T	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	81					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				GAGGAACGACGCCGAGGAAGG	0.647													A	37464809	G	A	37464809	3	1	45	1	0	0	0	0	1	0	0	0	12366	1087	38	1	243	1	PPP1R16B	20	37464809	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2892116	37464809	25560711	1241	37597											
PTPRT	11122	broad.mit.edu	37	chr20	40864897	40864897	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtaggaataagcatttcTtctatatattgatgggcagt	11	4	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:40864897T>G	uc002xkg.2	-	15	2498	c.2314A>C	c.(2314-2316)AGA>CGA	p.R772R	PTPRT_uc010ggj.2_Silent_p.R791R	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	772	Cytoplasmic (Potential).				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)				TAAGCATTTCTTCTATATATT	0.373													G	40864897	T	G	40864897	2	3	45	1	0	0	0	0	0	0	0	1	12812	1623	56	5		5	PTPRT	20	40864897	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	3400088	40864897	22160623	1242	37598											
PTPRT	11122	broad.mit.edu	37	chr20	40980816	40980816	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaataggtggtccctgggTacagacccacaaagaggtgg	15	8	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:40980816T>C	uc002xkg.2	-	10	1854	c.1670A>G	c.(1669-1671)TAC>TGC	p.Y557C	PTPRT_uc010ggj.2_Missense_Mutation_p.Y557C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	557	Extracellular (Potential).|Fibronectin type-III 3.				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)				GGTCCCTGGGTACAGACCCAC	0.562													C	40980816	T	C	40980816	3	2	45	1	0	0	0	0	1	0	0	0	12812	1638	57	3	2804	3	PTPRT	20	40980816	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	115919	40980816	22044704	1243	37599											
NEURL2	140825	broad.mit.edu	37	chr20	44519036	44519036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcatgtcggccgtgccatCggggcgcgggcaaaagagga	18	10	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:44519036C>T	uc002xqg.1	-	1	866	c.595G>A	c.(595-597)GAT>AAT	p.D199N	C20orf165_uc002xqf.2_5'Flank|CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN	neuralized-like protein 2	199	NHR.				intracellular signal transduction						0		Myeloproliferative disorder(115;0.0122)				GCCGTGCCATCGGGGCGCGGG	0.672											OREG0025985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	44519036	C	T	44519036	3	4	45	1	0	0	0	0	1	0	0	0	10346	884	31	1	270	1	NEURL2	20	44519036	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3538220	44519036	18506484	1244	37600											
ZNF334	55713	broad.mit.edu	37	chr20	45131154	45131154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgaggcttgtcttcacaCgaaaagttttcctacaatca	8	9	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:45131154C>T	uc002xsc.2	-	5	1008	c.824G>A	c.(823-825)CGT>CAT	p.R275H	ZNF334_uc002xsa.2_Missense_Mutation_p.R298H|ZNF334_uc002xsb.2_Missense_Mutation_p.R237H|ZNF334_uc002xsd.2_Missense_Mutation_p.R237H|ZNF334_uc010ghl.2_Missense_Mutation_p.R274H	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	275	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				TGTCTTCACACGAAAAGTTTT	0.413													T	45131154	C	T	45131154	3	4	45	1	0	0	0	0	1	0	0	0	17848	536	19	1	1222	1	ZNF334	20	45131154	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	612118	45131154	17894366	1245	37601											
NCOA3	8202	broad.mit.edu	37	chr20	46267789	46267789	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgcagtctattcgtccTccatataaccgagcagtgtc	8	12	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:46267789T>A	uc002xtk.2	+	14	2755	c.2550T>A	c.(2548-2550)CCT>CCA	p.P850P	NCOA3_uc010ght.1_Silent_p.P860P|NCOA3_uc002xtl.2_Silent_p.P850P|NCOA3_uc002xtm.2_Silent_p.P850P|NCOA3_uc002xtn.2_Silent_p.P850P|NCOA3_uc010zyc.1_Silent_p.P645P	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	850					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						CTATTCGTCCTCCATATAACC	0.378													A	46267789	T	A	46267789	2	1	45	1	0	0	0	0	0	0	0	1	10230	1538	54	5		5	NCOA3	20	46267789	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1136635	46267789	16757731	1246	37602											
ARFGEF2	10564	broad.mit.edu	37	chr20	47591403	47591403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaatcccaaccaccagaCcagcctcggtgagacagcat	9	14	0	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:47591403C>T	uc002xtx.3	+	13	1918	c.1766C>T	c.(1765-1767)ACC>ATC	p.T589I		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	589					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AACCACCAGACCAGCCTCGGT	0.507													T	47591403	C	T	47591403	3	4	45	1	0	0	0	0	1	0	0	0	853	507	18	4	1816	4	ARFGEF2	20	47591403	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1323614	47591403	15434117	1247	37603											
MOCS3	27304	broad.mit.edu	37	chr20	49575694	49575694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtacttggcagcggccggCgtgggccgccttggccttgt	16	13	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:49575694C>T	uc002xvy.1	+	1	332	c.315C>T	c.(313-315)GGC>GGT	p.G105G	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	105					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			skin(2)|ovary(1)	3						CAGCGGCCGGCGTGGGCCGCC	0.682													T	49575694	C	T	49575694	2	4	45	1	0	0	0	0	0	0	0	1	9692	755	27	1		1	MOCS3	20	49575694	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1984291	49575694	13449826	1248	37604											
ZFP64	55734	broad.mit.edu	37	chr20	50705100	50705100	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacttgtgtggcttcacactGgtgtggcaccgcatgtgcat	12	11	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:50705100G>T	uc002xwk.2	-	8	1408	c.1059C>A	c.(1057-1059)ACC>ACA	p.T353T	ZFP64_uc002xwj.2_Silent_p.T134T	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						GCTTCACACTGGTGTGGCACC	0.547													T	50705100	G	T	50705100	2	4	45	1	0	0	0	0	0	0	0	1	17649	1335	47	5		5	ZFP64	20	50705100	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1129406	50705100	12320420	1249	37605											
TSHZ2	128553	broad.mit.edu	37	chr20	51873029	51873029	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcaaacatgcggtaaaacTccacctaagcaaaacgcaca	7	12	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:51873029T>G	uc002xwo.2	+	2	3988	c.3032T>G	c.(3031-3033)CTC>CGC	p.L1011R		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1011	C2H2-type 5.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			GCGGTAAAACTCCACCTAAGC	0.468													G	51873029	T	G	51873029	3	3	45	1	0	0	0	0	1	0	0	0	16621	1551	54	5	3038	5	TSHZ2	20	51873029	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1167929	51873029	11152491	1250	37606											
CASS4	57091	broad.mit.edu	37	chr20	55012497	55012497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtgcccactctaccccGccctcccactccaggccccg	7	23	2	0	rs142769327		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:55012497G>A	uc002xxp.2	+	3	539	c.314G>A	c.(313-315)CGC>CAC	p.R105H	CASS4_uc002xxq.3_Missense_Mutation_p.R105H|CASS4_uc002xxr.2_Missense_Mutation_p.R105H|CASS4_uc010zze.1_Intron|CASS4_uc010gio.2_Missense_Mutation_p.R105H	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	105					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						ACTCTACCCCGCCCTCCCACT	0.647													A	55012497	G	A	55012497	3	1	45	1	0	0	0	0	1	0	0	0	2683	1087	38	1	320	1	CASS4	20	55012497	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	3139468	55012497	8013023	1251	37607											
C20orf43	51507	broad.mit.edu	37	chr20	55059247	55059247	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcggaagtttgccacacggTgagttcctgacatgtaccat	11	10	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:55059247T>C	uc002xxt.2	+	5	584	c.477_splice	c.e5+2	p.T159_splice	C20orf43_uc010zzf.1_Splice_Site_p.T189_splice|C20orf43_uc002xxu.2_Splice_Site_p.T159_splice|C20orf43_uc002xxv.2_Splice_Site_p.T159_splice	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	hypothetical protein LOC51507											ovary(1)	1			Colorectal(105;0.202)			TGCCACACGGTGAGTTCCTGA	0.473													C	55059247	T	C	55059247	5	2	45	1	0	0	0	0	0	0	1	0	2112	1710	59	3	497	3	C20orf43	20	55059247	Splice_Site	SNP	T	TCGA-BR-6852-01A-11D-1882-08	46750	55059247	7966273	1252	37608											
CTCFL	140690	broad.mit.edu	37	chr20	56064027	56064027	+	RNA	DEL	A	A	-													tcctcccgacaagtttgcacAaaaaatgcatatgatgacat							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:56064026_56064026CA>C	uc010giu.3	-	3		c.657_657TG>G			CTCFL_uc010giv.3_Non-coding_Transcript			Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.						DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CAAGTTTGCACAAAAAATGCA	0.453													-	56064027	A	-	56064027	6	5	45	0	1	1	0	1	0	0	0	0	4001	145	5	0		0	CTCFL	20	56064027	RNA	DEL	A	TCGA-BR-6852-01A-11D-1882-08	1004780	56064027	6961493	1253	37609											
PMEPA1	56937	broad.mit.edu	37	chr20	56234599	56234599	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggatggcggggcacttacTgaggacagggcatcttctct	15	9	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:56234599T>C	uc002xyq.2	-	2	657	c.264A>G	c.(262-264)TCA>TCG	p.S88S	PMEPA1_uc002xyr.2_Silent_p.S38S|PMEPA1_uc002xys.2_Silent_p.S53S|PMEPA1_uc002xyt.2_Silent_p.S38S	NM_020182	NP_064567	Q969W9	PMEPA_HUMAN	transmembrane prostate androgen-induced protein	88	Cytoplasmic (Potential).				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			pancreas(1)	1						GGGCACTTACTGAGGACAGGG	0.577													C	56234599	T	C	56234599	2	2	45	1	0	0	0	0	0	0	0	1	12132	1594	55	3		3	PMEPA1	20	56234599	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	170572	56234599	6790921	1254	37610											
EDN3	1908	broad.mit.edu	37	chr20	57897444	57897445	+	Frame_Shift_Ins	INS	-	-	A													agtaattcaaggacggcagaINSaaaaacagacaaagaagagg					rs11570344		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:57897443_57897444G>GA	uc002yap.3	+	3	928_929	c.559_560G>GA	c.(559-561)gaafs	p.E187fs	EDN3_uc002yao.1_Intron|EDN3_uc002yaq.3_Frame_Shift_Ins_p.E187fs|EDN3_uc002yar.3_Frame_Shift_Ins_p.E187fs|EDN3_uc002yas.3_Intron	NM_000114	NP_996917	P14138	EDN3_HUMAN	Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA.	187					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					AAGGACGGCAGAAAAAACAGAC	0.49													A	57897445	-	A	57897444	7	5	45	1	0	1	1	0	0	0	0	0	4918	246	9	0	574	0	EDN3	20	57897444	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	1662845	57897444	5128076	1255	37611											
CDH26	60437	broad.mit.edu	37	chr20	58562650	58562651	+	Missense_Mutation	DNP	CG	CG	TA													agaggggcattttgacatttCgactgaccctgagaccaacg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:58562650_58562651CG>TA	uc002ybe.2	+	8	1280_1281	c.980_981CG>TA	c.(979-981)TCG>TTA	p.S327L	CDH26_uc002ybf.1_5'Flank|CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	327	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TTTGACATTTCGACTGACCCTG	0.45													TA	58562651	CG	TA	58562650	3	4	45	1	0	0	0	0	1	0	0	0	3110	893	31	1	1010	1	CDH26	20	58562650	Missense_Mutation	DNP	CG	TCGA-BR-6852-01A-11D-1882-08	665206	58562650	4462870	1256	37612											
CDH4	1002	broad.mit.edu	37	chr20	60448911	60448911	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatatgttcaccatcaacagCgagactggagatatcgtcac	8	10	3	2	rs148871297	by1000genomes	TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:60448911C>T	uc002ybn.1	+	7	1019	c.1005C>T	c.(1003-1005)AGC>AGT	p.S335S	CDH4_uc002ybp.1_Silent_p.S261S	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	335	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCATCAACAGCGAGACTGGAG	0.647													T	60448911	C	T	60448911	2	4	45	1	0	0	0	0	0	0	0	1	3112	767	27	1		1	CDH4	20	60448911	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1886261	60448911	2576609	1257	37613											
LAMA5	3911	broad.mit.edu	37	chr20	60893940	60893940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctcagctgctgcctgcGgggcccccaggtcccgggcc	14	19	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:60893940G>A	uc002ycq.2	-	52	7068	c.7001C>T	c.(7000-7002)CCG>CTG	p.P2334L		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2334	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCTGCCTGCGGGGCCCCCAG	0.687													A	60893940	G	A	60893940	3	1	45	1	0	0	0	0	1	0	0	0	8609	1116	39	1	4202	1	LAMA5	20	60893940	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	445029	60893940	2131580	1258	37614											
DIDO1	11083	broad.mit.edu	37	chr20	61512757	61512757	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtggagacatcaaggcgtcCgacaccgagaagtgggccat	15	10	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:61512757C>A	uc002ydr.1	-	16	4815	c.4551G>T	c.(4549-4551)TCG>TCT	p.S1517S	DIDO1_uc002yds.1_Silent_p.S1517S	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1517					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					TCAAGGCGTCCGACACCGAGA	0.617													A	61512757	C	A	61512757	2	1	45	1	0	0	0	0	0	0	0	1	4522	639	23	5		5	DIDO1	20	61512757	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	618817	61512757	1512763	1259	37615											
YTHDF1	54915	broad.mit.edu	37	chr20	61834968	61834968	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgttgttccccaggcccccAggctgcccaaaaacagcatc	8	16	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:61834968A>G	uc002yeh.2	-	4	618	c.324T>C	c.(322-324)CCT>CCC	p.P108P	YTHDF1_uc011aaq.1_Silent_p.P58P	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	108										ovary(2)	2						CCAGGCCCCCAGGCTGCCCAA	0.532													G	61834968	A	G	61834968	2	3	45	1	0	0	0	0	0	0	0	1	17495	175	7	3		3	YTHDF1	20	61834968	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	322211	61834968	1190552	1260	37616											
SLC2A4RG	56731	broad.mit.edu	37	chr20	62373369	62373369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccactgccccccgaggcagCccactttctgtttggggagc	11	17	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:62373369C>T	uc002ygq.2	+	4	594	c.539C>T	c.(538-540)GCC>GTC	p.A180V	SLC2A4RG_uc002ygr.2_Missense_Mutation_p.A75V|SLC2A4RG_uc011abj.1_Missense_Mutation_p.A75V|SLC2A4RG_uc002ygs.2_Intron|SLC2A4RG_uc002ygt.2_5'UTR	NM_020062	NP_064446	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	180						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCCGAGGCAGCCCACTTTCTG	0.677													T	62373369	C	T	62373369	3	4	45	1	0	0	0	0	1	0	0	0	14547	739	26	2	553	2	SLC2A4RG	20	62373369	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	538401	62373369	652151	1261	37617											
ZBTB46	140685	broad.mit.edu	37	chr20	62384092	62384092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaacttcttcccgcagatctCgcaggggtagggccgctctc	12	14	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:62384092C>T	uc002ygv.1	-	4	1546	c.1345G>A	c.(1345-1347)GAG>AAG	p.E449K	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	449	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CCGCAGATCTCGCAGGGGTAG	0.657													T	62384092	C	T	62384092	3	4	45	1	0	0	0	0	1	0	0	0	17544	893	31	1	432	1	ZBTB46	20	62384092	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	10723	62384092	641428	1262	37618											
C20orf135	140701	broad.mit.edu	37	chr20	62493849	62493849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggtgctgctgctccgacGcacgcaggatgacgtggtca	15	13	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:62493849G>A	uc002ygx.1	+	1	1284	c.956G>A	c.(955-957)CGC>CAC	p.R319H	TPD52L2_uc002ygy.2_5'Flank|TPD52L2_uc002ygz.2_5'Flank|TPD52L2_uc002yha.2_5'Flank|TPD52L2_uc002yhb.2_5'Flank|TPD52L2_uc002yhc.2_5'Flank|TPD52L2_uc002yhd.2_5'Flank|TPD52L2_uc011abk.1_5'Flank|TPD52L2_uc011abl.1_5'Flank	NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN	hypothetical protein LOC140701	319							hydrolase activity				0	all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					CTGCTCCGACGCACGCAGGAT	0.687													A	62493849	G	A	62493849	3	1	45	1	0	0	0	0	1	0	0	0	2088	1087	38	1	958	1	C20orf135	20	62493849	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	109757	62493849	531671	1263	37619											
ZNF512B	57473	broad.mit.edu	37	chr20	62592694	62592694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaggatgtggtatttgaCgccactctcagaactgaact	9	10	2	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:62592694C>T	uc002yhl.1	-	16	2449	c.2395G>A	c.(2395-2397)GTC>ATC	p.V799I		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	799	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGTATTTGACGCCACTCTCA	0.647													T	62592694	C	T	62592694	3	4	45	1	0	0	0	0	1	0	0	0	17954	536	19	1	291	1	ZNF512B	20	62592694	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	98845	62592694	432826	1264	37620											
ZNF512B	57473	broad.mit.edu	37	chr20	62595228	62595228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcagacggcttccccgcGctcatggatggccctctgcc	14	16	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr20:62595228G>A	uc002yhl.1	-	9	1573	c.1519C>T	c.(1519-1521)CGC>TGC	p.R507C		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCTTCCCCGCGCTCATGGATG	0.652													A	62595228	G	A	62595228	3	1	45	1	0	0	0	0	1	0	0	0	17954	1087	38	1	1195	1	ZNF512B	20	62595228	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2534	62595228	430292	1265	37621											
LIPI	149998	broad.mit.edu	37	chr21	15579144	15579144	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagagattacctgatctcAggcacacaactagaagccac	7	11	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr21:15579144A>G	uc002yjm.2	-	1	111	c.101T>C	c.(100-102)CTG>CCG	p.L34P		NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	lipase, member I	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			ovary(2)	2				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		acctgatctcaggcacacaac	0.239													G	15579144	A	G	15579144	3	3	45	1	0	0	0	0	1	0	0	0	8825	188	7	3	1384	3	LIPI	21	15579144	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08		15579144	32550751	1266	37622											
CXADR	1525	broad.mit.edu	37	chr21	18933045	18933045	+	Frame_Shift_Del	DEL	A	A	-													acttcatctgttatatctgtAaaaaatgcctcttctgagta							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr21:18933044_18933044TA>T	uc002yki.3	+	4	820	c.596_596TA>T	c.(595-597)gtafs	p.V199fs	CXADR_uc002ykh.2_Intron|CXADR_uc010gld.2_Intron|CXADR_uc010gle.2_Intron|CXADR_uc021whp.1_Intron|CXADR_uc002ykj.2_Frame_Shift_Del_p.V199fs	NM_001338	NP_001329	P78310	CXAR_HUMAN	Homo sapiens coxsackie virus and adenovirus receptor (CXADR), transcript variant 1, mRNA.	199	Ig-like C2-type 2.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		GTTATATCTGTAAAAAATGCC	0.388													-	18933045	A	-	18933045	7	5	45	1	0	1	0	1	0	0	0	0	4076	349	13	0	615	0	CXADR	21	18933045	Frame_Shift_Del	DEL	A	TCGA-BR-6852-01A-11D-1882-08	3353901	18933045	29196850	1267	37623											
CHODL	140578	broad.mit.edu	37	chr21	19628904	19628904	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaactgtccagccgagtgaGctttcaggaggcacgcctgg	14	11	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr21:19628904G>T	uc002ykv.2	+	2	549	c.158G>T	c.(157-159)AGC>ATC	p.S53I	CHODL_uc002ykr.2_Missense_Mutation_p.S12I|CHODL_uc002yks.2_Missense_Mutation_p.S12I|CHODL_uc002ykt.2_Missense_Mutation_p.S12I|CHODL_uc002yku.2_Missense_Mutation_p.S12I	NM_024944	NP_079220	Q9H9P2	CHODL_HUMAN	chondrolectin precursor	53	Extracellular (Potential).|C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			upper_aerodigestive_tract(1)	1		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		AGCCGAGTGAGCTTTCAGGAG	0.473													T	19628904	G	T	19628904	3	4	45	1	0	0	0	0	1	0	0	0	3364	971	34	5	164	5	CHODL	21	19628904	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	695859	19628904	28500991	1268	37624											
KRTAP6-1	337966	broad.mit.edu	37	chr21	31986107	31986107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagtctgcggaagccacaGccacagcaggagccatagcc	11	16	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr21:31986107G>A	uc002yop.2	-	1	117	c.117C>T	c.(115-117)GGC>GGT	p.G39G	KRTAP20-1_uc011ade.1_5'Flank	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	39						cytosol|intermediate filament					0						GGAAGCCACAGCCACAGCAGG	0.592													A	31986107	G	A	31986107	2	1	45	1	0	0	0	0	0	0	0	1	8569	958	34	2		2	KRTAP6-1	21	31986107	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	12357203	31986107	16143788	1269	37625											
TIAM1	7074	broad.mit.edu	37	chr21	32492823	32492823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgtgccatgcgggacgCgtgactatccagggttttcc	14	11	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr21:32492823C>T	uc002yow.1	-	29	5111	c.4639G>A	c.(4639-4641)GCG>ACG	p.A1547T	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.A1487T	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1547					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						ATGCGGGACGCGTGACTATCC	0.602													T	32492823	C	T	32492823	3	4	45	1	0	0	0	0	1	0	0	0	15887	768	27	1	140	1	TIAM1	21	32492823	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	506716	32492823	15637072	1270	37626											
TIAM1	7074	broad.mit.edu	37	chr21	32590005	32590005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactccagtttcaccagtgCgtgctgccacctgaggatgg	11	13	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr21:32590005C>T	uc002yow.1	-	10	2478	c.2006G>A	c.(2005-2007)CGC>CAC	p.R669H	TIAM1_uc011adk.1_Missense_Mutation_p.R669H|TIAM1_uc011adl.1_Missense_Mutation_p.R669H|TIAM1_uc002yox.1_Missense_Mutation_p.R277H	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	669					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TTCACCAGTGCGTGCTGCCAC	0.562													T	32590005	C	T	32590005	3	4	45	1	0	0	0	0	1	0	0	0	15887	768	27	1	2849	1	TIAM1	21	32590005	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	97182	32590005	15539890	1271	37627											
OLIG2	10215	broad.mit.edu	37	chr21	34399407	34399407	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggcttcaagtcatcctcGtccagcacctcgtcgtctac	8	15	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr21:34399407G>A	uc002yqx.1	+	2	395	c.237G>A	c.(235-237)TCG>TCA	p.S79S		NM_005806	NP_005797	Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	79	Poly-Ser.					cytoplasm|nucleus|plasma membrane	DNA binding			central_nervous_system(2)	2						AGTCATCCTCGTCCAGCACCT	0.647			T	TRA@	T-ALL								A	34399407	G	A	34399407	2	1	45	1	0	0	0	0	0	0	0	1	10861	1132	40	1		1	OLIG2	21	34399407	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1809402	34399407	13730488	1272	37628											
SH3BGR	6450	broad.mit.edu	37	chr21	40823995	40823995	+	Frame_Shift_Del	DEL	G	G	-													ttccctgacaggggtgtgttGgggggagtcctctttccaac					rs35950439		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr21:40823994_40823994TG>T	uc002yya.3	+	0	215	c.161_161TG>T	c.(160-162)ttgfs	p.L54fs	SH3BGR_uc002yxz.3_Intron	NM_007341	NP_001001713	P55822	SH3BG_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA.	54					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		AGGGGTGTGTTGGGGGGAGTC	0.557													-	40823995	G	-	40823995	7	5	45	1	0	1	0	1	0	0	0	0	14240	1339	47	0	164	0	SH3BGR	21	40823995	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	6424588	40823995	7305900	1273	37629											
MX1	4599	broad.mit.edu	37	chr21	42811630	42811630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttttctagcccagaatgCcatcgccggggaaggaatgg	12	11	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr21:42811630C>T	uc002yzh.2	+	10	1393	c.446C>T	c.(445-447)GCC>GTC	p.A149V	MX1_uc002yzi.2_Missense_Mutation_p.A149V|MX1_uc010goq.2_Missense_Mutation_p.A149V	NM_001144925	NP_001138397	P20591	MX1_HUMAN	myxovirus resistance protein 1	149					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GCCCAGAATGCCATCGCCGGG	0.478													T	42811630	C	T	42811630	3	4	45	1	0	0	0	0	1	0	0	0	9997	739	26	2	460	2	MX1	21	42811630	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1987635	42811630	5318265	1274	37630											
PRDM15	63977	broad.mit.edu	37	chr21	43274836	43274836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcaggttctggtgctcgGcctccgccgctggccgcacc	13	18	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr21:43274836G>A	uc002yzq.1	-	12	1586	c.1475C>T	c.(1474-1476)GCC>GTC	p.A492V	PRDM15_uc002yzo.2_Missense_Mutation_p.A163V|PRDM15_uc002yzp.2_Missense_Mutation_p.A163V|PRDM15_uc002yzr.1_Missense_Mutation_p.A163V	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	492	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTGGTGCTCGGCCTCCGCCGC	0.642													A	43274836	G	A	43274836	3	1	45	1	0	0	0	0	1	0	0	0	12456	1203	42	2	3128	2	PRDM15	21	43274836	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	463206	43274836	4855059	1275	37631											
RSPH1	89765	broad.mit.edu	37	chr21	43906550	43906550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtatacgccatggccgtgcCgcaggtcatttgcccactct	10	14	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr21:43906550C>T	uc002zbg.2	-	4	401	c.296G>A	c.(295-297)CGG>CAG	p.R99Q		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	testis-specific gene A2	99	MORN 4.				meiosis	cytosol|nucleus				ovary(1)	1						ATGGCCGTGCCGCAGGTCATT	0.478													T	43906550	C	T	43906550	3	4	45	1	0	0	0	0	1	0	0	0	13702	652	23	1	657	1	RSPH1	21	43906550	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	631714	43906550	4223345	1276	37632											
TRAPPC10	7109	broad.mit.edu	37	chr21	45494326	45494326	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaacattgcccacactgtggGgctatggagctatgccacag	11	11	0	0	rs148635981		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr21:45494326G>T	uc002zea.2	+	8	1329	c.1160G>T	c.(1159-1161)GGG>GTG	p.G387V	TRAPPC10_uc010gpo.2_Missense_Mutation_p.G98V	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	387					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						CACACTGTGGGGCTATGGAGC	0.572													T	45494326	G	T	45494326	3	4	45	1	0	0	0	0	1	0	0	0	16454	1232	43	5	1190	5	TRAPPC10	21	45494326	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1587776	45494326	2635569	1277	37633											
TRPM2	7226	broad.mit.edu	37	chr21	45811295	45811295	+	Frame_Shift_Del	DEL	C	C	-													tacctgtacgagaacctggaCccctcctgcctgttccacag							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr21:45811294_45811294AC>A	uc010gpt.1	+	10	1680	c.1580_1580AC>A	c.(1579-1581)gacfs	p.D527fs	TRPM2_uc002zet.1_Frame_Shift_Del_p.D527fs|TRPM2_uc002zeu.1_Frame_Shift_Del_p.D527fs|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Frame_Shift_Del_p.D527fs|TRPM2_uc002zex.1_Frame_Shift_Del_p.D313fs|TRPM2_uc002zey.1_Frame_Shift_Del_p.D40fs	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	527						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GAGAACCTGGACCCCTCCTGC	0.627													-	45811295	C	-	45811295	7	5	45	1	0	1	0	1	0	0	0	0	16583	506	18	0	1623	0	TRPM2	21	45811295	Frame_Shift_Del	DEL	C	TCGA-BR-6852-01A-11D-1882-08	316969	45811295	2318600	1278	37634											
ITGB2	3689	broad.mit.edu	37	chr21	46320303	46320303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgttgggggtcaggatggCgcccagcttcccgtcgcccg	16	14	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr21:46320303C>T	uc002zgd.2	-	6	873	c.829G>A	c.(829-831)GCC>ACC	p.A277T	ITGB2_uc002zge.2_Missense_Mutation_p.A277T|ITGB2_uc002zgf.3_Missense_Mutation_p.A277T|ITGB2_uc011afl.1_Missense_Mutation_p.A199T|ITGB2_uc010gpw.2_Missense_Mutation_p.A220T|ITGB2_uc002zgg.2_Missense_Mutation_p.A277T	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	277	Extracellular (Potential).|VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	GTCAGGATGGCGCCCAGCTTC	0.627													T	46320303	C	T	46320303	3	4	45	1	0	0	0	0	1	0	0	0	7894	768	27	1	1520	1	ITGB2	21	46320303	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	509008	46320303	1809592	1279	37635											
PCNT	5116	broad.mit.edu	37	chr21	47832899	47832899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctgagtctggaggacgGcggcaaggtgtggggagggg	23	7	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr21:47832899G>A	uc002zji.3	+	29	6250	c.6143G>A	c.(6142-6144)GGC>GAC	p.G2048D	PCNT_uc002zjj.2_Missense_Mutation_p.G1930D	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2048					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					CTGGAGGACGGCGGCAAGGTG	0.657													A	47832899	G	A	47832899	3	1	45	1	0	0	0	0	1	0	0	0	11590	1203	42	2	6257	2	PCNT	21	47832899	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1512596	47832899	296996	1280	37636											
ARVCF	421	broad.mit.edu	37	chr22	19967605	19967605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagggtcccgccagcgcgGctccttgcgggcgctatcca	13	17	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:19967605G>A	uc002zqz.2	-	6	1328	c.1057C>T	c.(1057-1059)CCG>TCG	p.P353S	ARVCF_uc002zqy.2_5'Flank|ARVCF_uc002zra.2_3'UTR	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	353	ARM 1.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					CGCCAGCGCGGCTCCTTGCGG	0.716													A	19967605	G	A	19967605	3	1	45	1	0	0	0	0	1	0	0	0	1003	1203	42	2	1887	2	ARVCF	22	19967605	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08		19967605	31336961	1281	37637											
MED15	51586	broad.mit.edu	37	chr22	20918760	20918760	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgcagctccagcaggtgGcgctgcagcagcagcagcaa	14	13	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:20918760G>T	uc002zsp.2	+	6	555	c.475G>T	c.(475-477)GCG>TCG	p.A159S	MED15_uc002zsn.1_Missense_Mutation_p.A78S|MED15_uc002zso.2_Missense_Mutation_p.A88S|MED15_uc002zsq.2_Missense_Mutation_p.A159S|MED15_uc010gso.2_Missense_Mutation_p.A159S|MED15_uc002zsr.2_Missense_Mutation_p.A133S|MED15_uc011ahs.1_Missense_Mutation_p.A133S|MED15_uc011aht.1_Missense_Mutation_p.A133S|MED15_uc002zss.2_Missense_Mutation_p.A78S|MED15_uc011ahu.1_5'Flank	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	159					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CCAGCAGGTGGCGCTgcagca	0.323											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	20918760	G	T	20918760	3	4	45	1	0	0	0	0	1	0	0	0	9433	1203	42	5	497	5	MED15	22	20918760	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	951155	20918760	30385806	1282	37638											
SERPIND1	3053	broad.mit.edu	37	chr22	21138420	21138420	+	Frame_Shift_Del	DEL	G	G	-													atcctccagctggaatacgtGgggggcatcagcatgctaat							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:21138419_21138419TG>T	uc002ztc.2	+	1	1136	c.1133_1133TG>T	c.(1132-1134)gtgfs	p.V378fs	PI4KA_uc002zsz.4_Intron|SERPIND1_uc002ztb.1_Frame_Shift_Del_p.V350fs	NM_000185	NP_000176	P05546	HEP2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade D (heparin cofactor), member 1 (SERPIND1), mRNA.	350					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CTGGAATACGTGGGGGGCATC	0.542											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	21138420	G	-	21138420	7	5	45	1	0	1	0	1	0	0	0	0	14110	1335	47	0	1056	0	SERPIND1	22	21138420	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	219660	21138420	30166146	1283	37639											
AIFM3	150209	broad.mit.edu	37	chr22	21329105	21329105	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccgtcccaagctcagcaaGgtacagggggtggggcaagt	16	10	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:21329105G>T	uc002ztj.2	+	8	938	c.720G>T	c.(718-720)AAG>AAT	p.K240N	AIFM3_uc002ztk.2_Missense_Mutation_p.K240N|AIFM3_uc002ztl.2_Missense_Mutation_p.K246N|AIFM3_uc011ahx.1_Missense_Mutation_p.K228N|AIFM3_uc002ztm.1_Missense_Mutation_p.K52N	NM_144704	NP_653305	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor,	240		FAD (Potential).			activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport	endoplasmic reticulum|mitochondrial inner membrane	2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding			ovary(2)|lung(2)	4	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGCTCAGCAAGGTACAGGGGG	0.632													T	21329105	G	T	21329105	3	4	45	1	0	0	0	0	1	0	0	0	428	1014	35	5	764	5	AIFM3	22	21329105	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	190685	21329105	29975461	1284	37640											
TOP3B	8940	broad.mit.edu	37	chr22	22313552	22313552	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccacagcgtgagaggggCttgcctgtggccgccagggg	17	12	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:22313552C>T	uc002zvs.2	-	16	2292	c.1857G>A	c.(1855-1857)AAG>AAA	p.K619K	TOP3B_uc010gtm.1_Silent_p.K164K|TOP3B_uc002zvr.2_Silent_p.K344K|TOP3B_uc010gtl.2_Silent_p.K619K|TOP3B_uc002zvt.3_Silent_p.K619K	NM_003935	NP_003926	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	619					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			kidney(1)	1	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GTGAGAGGGGCTTGCCTGTGG	0.507													T	22313552	C	T	22313552	2	4	45	1	0	0	0	0	0	0	0	1	16365	796	28	2		2	TOP3B	22	22313552	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	984447	22313552	28991014	1285	37641											
LRP5L	91355	broad.mit.edu	37	chr22	25756037	25756037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcccacacctcgtcatccGtccagtagacgtggccctcc	9	18	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:25756037G>A	uc003abs.2	-	1	2488	c.23C>T	c.(22-24)ACG>ATG	p.T8M	LRP5L_uc011ajz.1_Missense_Mutation_p.T8M|LRP5L_uc010guw.1_Missense_Mutation_p.T8M	NM_182492	NP_872298	A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein	8	LDL-receptor class B 1.										0						CTCGTCATCCGTCCAGTAGAC	0.597													A	25756037	G	A	25756037	3	1	45	1	0	0	0	0	1	0	0	0	8961	1145	40	1	751	1	LRP5L	22	25756037	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	3442485	25756037	25548529	1286	37642											
MYO18B	84700	broad.mit.edu	37	chr22	26423135	26423135	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgatgcgggctgtccagacCttggaaaggagccgcttgtt	14	10	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:26423135C>A	uc003abz.1	+	43	7445	c.7195C>A	c.(7195-7197)CTT>ATT	p.L2399I	MYO18B_uc003aca.1_Missense_Mutation_p.L2280I|MYO18B_uc010guy.1_Missense_Mutation_p.L2281I|MYO18B_uc010guz.1_Missense_Mutation_p.L2279I|MYO18B_uc011aka.1_Missense_Mutation_p.L1553I|MYO18B_uc011akb.1_Missense_Mutation_p.L1912I|MYO18B_uc010gva.1_Missense_Mutation_p.L382I|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2399						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CTGTCCAGACCTTGGAAAGGA	0.602													A	26423135	C	A	26423135	3	1	45	1	0	0	0	0	1	0	0	0	10066	681	24	5	7361	5	MYO18B	22	26423135	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	667098	26423135	24881431	1287	37643											
CRYBB1	1414	broad.mit.edu	37	chr22	27012154	27012154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggcgctggtaataggcaCggttgttggggccagggtag	18	7	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:27012154C>T	uc003acy.1	-	2	200	c.130G>A	c.(130-132)GTG>ATG	p.V44M		NM_001887	NP_001878	P53674	CRBB1_HUMAN	crystallin, beta B1	44	N-terminal arm.				visual perception		structural constituent of eye lens			ovary(1)	1						GTAATAGGCACGGTTGTTGGG	0.647													T	27012154	C	T	27012154	3	4	45	1	0	0	0	0	1	0	0	0	3910	536	19	1	648	1	CRYBB1	22	27012154	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	589019	27012154	24292412	1288	37644											
ZNRF3	84133	broad.mit.edu	37	chr22	29444461	29444461	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaccacacctgcccccacTgtcggcacaacatcataggt	7	17	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:29444461T>C	uc003aeg.2	+	7	862	c.697T>C	c.(697-699)TGT>CGT	p.C233R	ZNRF3_uc003aeh.1_Missense_Mutation_p.C233R	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	333	RING-type; atypical.|Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1						CTGCCCCCACTGTCGGCACAA	0.592													C	29444461	T	C	29444461	3	2	45	1	0	0	0	0	1	0	0	0	18210	1580	55	3	719	3	ZNRF3	22	29444461	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	2432307	29444461	21860105	1289	37645											
CCDC157	550631	broad.mit.edu	37	chr22	30762081	30762081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcgtagacgtcttctcccGcgccgggcctgtgcgcttcc	11	17	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:30762081G>A	uc011aku.1	+	3	752	c.92G>A	c.(91-93)CGC>CAC	p.R31H	CCDC157_uc011akv.1_Missense_Mutation_p.R31H	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	coiled-coil domain containing 157	31										central_nervous_system(1)	1						GTCTTCTCCCGCGCCGGGCCT	0.652													A	30762081	G	A	30762081	3	1	45	1	0	0	0	0	1	0	0	0	2789	1087	38	1	94	1	CCDC157	22	30762081	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1317620	30762081	20542485	1290	37646											
OSBP2	23762	broad.mit.edu	37	chr22	31285560	31285560	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaacaagcccaactacagCcttaacctctggagcatcat	5	16	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:31285560C>T	uc003aiy.1	+	7	1664	c.1560C>T	c.(1558-1560)AGC>AGT	p.S520S	OSBP2_uc011ala.1_Silent_p.S354S|OSBP2_uc010gwc.1_Silent_p.S347S|OSBP2_uc011alb.1_Intron|OSBP2_uc003aiz.1_Silent_p.S519S|OSBP2_uc003aja.1_Silent_p.S153S|OSBP2_uc011alc.1_Silent_p.S262S|OSBP2_uc003ajb.2_Silent_p.S65S|OSBP2_uc011ald.1_Silent_p.S64S|OSBP2_uc010gwd.1_Silent_p.S65S	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	520					lipid transport	membrane	lipid binding			breast(1)|skin(1)	2						CCAACTACAGCCTTAACCTCT	0.607													T	31285560	C	T	31285560	2	4	45	1	0	0	0	0	0	0	0	1	11274	738	26	2		2	OSBP2	22	31285560	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	523479	31285560	20019006	1291	37647											
OSBP2	23762	broad.mit.edu	37	chr22	31302253	31302253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgctgaccggggagatggCctgtgtgtacaagggcggct	17	10	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:31302253C>T	uc003aiy.1	+	14	2782	c.2678C>T	c.(2677-2679)GCC>GTC	p.A893V	OSBP2_uc011ala.1_Missense_Mutation_p.A727V|OSBP2_uc010gwc.1_Missense_Mutation_p.A720V|OSBP2_uc011alb.1_3'UTR|OSBP2_uc003aiz.1_Missense_Mutation_p.A892V|OSBP2_uc003aja.1_Missense_Mutation_p.A526V|OSBP2_uc011alc.1_Missense_Mutation_p.A636V|OSBP2_uc003ajb.2_Missense_Mutation_p.A438V|OSBP2_uc011ald.1_Missense_Mutation_p.A437V|OSBP2_uc010gwd.1_3'UTR	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	893					lipid transport	membrane	lipid binding			breast(1)|skin(1)	2						GGGGAGATGGCCTGTGTGTAC	0.602													T	31302253	C	T	31302253	3	4	45	1	0	0	0	0	1	0	0	0	11274	739	26	2	2732	2	OSBP2	22	31302253	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	16693	31302253	20002313	1292	37648											
SMTN	6525	broad.mit.edu	37	chr22	31495154	31495154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actggtgtcgagccaagactCgcggctacgaggtgagcccc	14	13	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:31495154C>T	uc003ajl.1	+	18	2658	c.2440C>T	c.(2440-2442)CGC>TGC	p.R814C	SMTN_uc003ajk.1_Missense_Mutation_p.R814C|SMTN_uc003ajm.1_Missense_Mutation_p.R814C|SMTN_uc011ale.1_Missense_Mutation_p.R899C|SMTN_uc011alf.1_Missense_Mutation_p.R870C|SMTN_uc003ajn.1_Missense_Mutation_p.R837C|SMTN_uc011alg.1_Missense_Mutation_p.R270C|SMTN_uc003ajo.1_Missense_Mutation_p.R337C|SMTN_uc010gwe.1_Missense_Mutation_p.R194C|SMTN_uc003ajp.1_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	814	CH.				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						AGCCAAGACTCGCGGCTACGA	0.652													T	31495154	C	T	31495154	3	4	45	1	0	0	0	0	1	0	0	0	14814	884	31	1	2506	1	SMTN	22	31495154	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	192901	31495154	19809412	1293	37649											
DEPDC5	9681	broad.mit.edu	37	chr22	32302315	32302315	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgggtcggctacaactgGgcctacaacaccatgctcac	11	14	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:32302315G>A	uc003als.2	+	42	4693	c.4551G>A	c.(4549-4551)TGG>TGA	p.W1517*	DEPDC5_uc011als.1_Nonsense_Mutation_p.W1448*|DEPDC5_uc011alu.1_Nonsense_Mutation_p.W1548*|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Nonsense_Mutation_p.W1539*|DEPDC5_uc003alu.2_Nonsense_Mutation_p.W966*|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Nonsense_Mutation_p.W815*|DEPDC5_uc011alx.1_Nonsense_Mutation_p.W365*|DEPDC5_uc010gwk.2_Missense_Mutation_p.G553S|DEPDC5_uc011aly.1_Nonsense_Mutation_p.W365*	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1517					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						GCTACAACTGGGCCTACAACA	0.587													A	32302315	G	A	32302315	4	1	45	1	0	0	0	0	0	1	0	0	4442	1241	43	4	4801	4	DEPDC5	22	32302315	Nonsense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	807161	32302315	19002251	1294	37650											
RFPL2	10739	broad.mit.edu	37	chr22	32587176	32587176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtccacctcccagcagtgGcggccacaggtaaagcgagg	13	14	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:32587176G>A	uc003amg.3	-	5	1656	c.720C>T	c.(718-720)CGC>CGT	p.R240R	RFPL2_uc003ame.3_Silent_p.R179R|RFPL2_uc003amf.3_Silent_p.R150R|RFPL2_uc003amh.3_Silent_p.R150R	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN	ret finger protein-like 2 isoform 2	240	B30.2/SPRY.						zinc ion binding			skin(1)	1						CCCAGCAGTGGCGGCCACAGG	0.592													A	32587176	G	A	32587176	2	1	45	1	0	0	0	0	0	0	0	1	13254	1190	42	2		2	RFPL2	22	32587176	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	284861	32587176	18717390	1295	37651											
HMOX1	3162	broad.mit.edu	37	chr22	35783002	35783002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcccagaaagccctggacCtgcccagctctggcgagggc	13	15	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:35783002C>T	uc003ant.1	+	3	549	c.469C>T	c.(469-471)CTG>TTG	p.L157L		NM_002133	NP_002124	P09601	HMOX1_HUMAN	heme oxygenase (decyclizing) 1	157					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			ovary(1)	1					NADH(DB00157)	AGCCCTGGACCTGCCCAGCTC	0.627													T	35783002	C	T	35783002	2	4	45	1	0	0	0	0	0	0	0	1	7243	680	24	4		4	HMOX1	22	35783002	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3195826	35783002	15521564	1296	37652											
LGALS2	3957	broad.mit.edu	37	chr22	37966699	37966699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaagcgagggttgaaatGcaggttcagcttgtctgtcc	14	8	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:37966699G>A	uc003ata.2	-	3	245	c.133C>T	c.(133-135)CAT>TAT	p.H45Y		NM_006498	NP_006489	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	45	Galectin.									breast(1)|skin(1)	2	Melanoma(58;0.0574)					GGGTTGAAATGCAGGTTCAGC	0.542													A	37966699	G	A	37966699	3	1	45	1	0	0	0	0	1	0	0	0	8742	1319	46	2	273	2	LGALS2	22	37966699	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2183697	37966699	13337867	1297	37653											
PDXP	57026	broad.mit.edu	37	chr22	38055298	38055298	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcacctgcgcgaccccgAgtgcctactcgtggccaccg	12	19	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:38055298A>C	uc003atm.1	+	1	562	c.509A>C	c.(508-510)GAG>GCG	p.E170A	SH3BP1_uc003atj.1_Intron|uc003atl.1_5'Flank	NM_020315	NP_064711	Q96GD0	PLPP_HUMAN	pyridoxal phosphatase	170					actin rod assembly|cellular response to ATP|positive regulation of actin filament depolymerization|protein dephosphorylation|regulation of cytokinesis|regulation of mitosis	cytosol	heat shock protein binding|metal ion binding|phosphoprotein phosphatase activity|pyridoxal phosphatase activity			ovary(2)	2	Melanoma(58;0.0574)				Pyridoxal(DB00147)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	CGCGACCCCGAGTGCCTACTC	0.592													C	38055298	A	C	38055298	3	2	45	1	0	0	0	0	1	0	0	0	11698	304	11	5	511	5	PDXP	22	38055298	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	88599	38055298	13249268	1298	37654											
TMEM184B	25829	broad.mit.edu	37	chr22	38620838	38620838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaccttgtaggtgaaggcGtgccgcagggccagggctgc	17	10	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:38620838G>A	uc003avf.1	-	8	1160	c.936C>T	c.(934-936)CAC>CAT	p.H312H	TMEM184B_uc003avg.1_Silent_p.H312H|TMEM184B_uc003avh.1_Silent_p.H246H	NM_012264	NP_036396	Q9Y519	T184B_HUMAN	transmembrane protein 184B	312						integral to membrane					0	Melanoma(58;0.045)					AGGTGAAGGCGTGCCGCAGGG	0.637													A	38620838	G	A	38620838	2	1	45	1	0	0	0	0	0	0	0	1	16102	1136	40	1		1	TMEM184B	22	38620838	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	565540	38620838	12683728	1299	37655											
SGSM3	27352	broad.mit.edu	37	chr22	40801671	40801671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggccgcctgcctcctgCtgttcctggaggaggaggac	16	12	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:40801671C>T	uc003ayu.1	+	8	846	c.637C>T	c.(637-639)CTG>TTG	p.L213L	SGSM3_uc010gyc.1_Silent_p.L213L|SGSM3_uc011aos.1_Silent_p.L146L|SGSM3_uc011aot.1_Silent_p.L150L|SGSM3_uc010gyd.1_Silent_p.L213L	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	213	Rab-GAP TBC.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2						CTGCCTCCTGCTGTTCCTGGA	0.502													T	40801671	C	T	40801671	2	4	45	1	0	0	0	0	0	0	0	1	14224	796	28	2		2	SGSM3	22	40801671	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2180833	40801671	10502895	1300	37656											
EP300	2033	broad.mit.edu	37	chr22	41533773	41533773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatattactcaggatcttcGaaatcatcttgttcacaaac	5	9	5	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:41533773G>A	uc003azl.3	+	8	2134	c.1739G>A	c.(1738-1740)CGA>CAA	p.R580Q		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	580	KIX.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.R580*(1)		haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CAGGATCTTCGAAATCATCTT	0.433			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				A	41533773	G	A	41533773	3	1	45	1	0	0	0	0	1	0	0	0	5148	1058	37	1	1769	1	EP300	22	41533773	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	732102	41533773	9770793	1301	37657											
EP300	2033	broad.mit.edu	37	chr22	41545050	41545050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttttttcagcctatgggCtatgggcctcgtatgcaaca	9	9	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:41545050C>T	uc003azl.3	+	13	2645	c.2250C>T	c.(2248-2250)GGC>GGT	p.G750G		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	750					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						AGCCTATGGGCTATGGGCCTC	0.413			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				T	41545050	C	T	41545050	2	4	45	1	0	0	0	0	0	0	0	1	5148	784	28	2		2	EP300	22	41545050	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	11277	41545050	9759516	1302	37658											
SCUBE1	80274	broad.mit.edu	37	chr22	43735227	43735227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgccctctgagcactcatCcacgtcgactgaccctgtgg	10	15	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:43735227C>T	uc003bdt.1	-	2	191	c.103G>A	c.(103-105)GAT>AAT	p.D35N	SCUBE1_uc003bdu.1_Missense_Mutation_p.D35N	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	35	EGF-like 1; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				GAGCACTCATCCACGTCGACT	0.597													T	43735227	C	T	43735227	3	4	45	1	0	0	0	0	1	0	0	0	13944	855	30	4	2947	4	SCUBE1	22	43735227	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2190177	43735227	7569339	1303	37659											
EFCAB6	64800	broad.mit.edu	37	chr22	43926830	43926830	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtaaaaagatggcgtctcCgcgccggcttctttctagac	11	11	3	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:43926830C>T	uc003bdy.1	-	31	4463	c.4248G>A	c.(4246-4248)GCG>GCA	p.A1416A	EFCAB6_uc003bdz.1_Silent_p.A1264A|EFCAB6_uc010gzi.1_Silent_p.A1264A	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1416	Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				ATGGCGTCTCCGCGCCGGCTT	0.468													T	43926830	C	T	43926830	2	4	45	1	0	0	0	0	0	0	0	1	4939	639	23	1		1	EFCAB6	22	43926830	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	191603	43926830	7377736	1304	37660											
FBLN1	2192	broad.mit.edu	37	chr22	45923855	45923855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtcaagagccaggagacCggagatttggatgtcggggg	18	6	1	3	rs141549958		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:45923855C>T	uc003bgj.1	+	4	597	c.450C>T	c.(448-450)ACC>ACT	p.T150T	FBLN1_uc003bgg.1_Silent_p.T150T|FBLN1_uc003bgh.2_Silent_p.T150T|FBLN1_uc010gzz.2_Silent_p.T188T|FBLN1_uc003bgi.1_Silent_p.T150T	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	150					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCCAGGAGACCGGAGATTTGG	0.502													T	45923855	C	T	45923855	2	4	45	1	0	0	0	0	0	0	0	1	5698	639	23	1		1	FBLN1	22	45923855	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1997025	45923855	5380711	1305	37661											
TTC38	55020	broad.mit.edu	37	chr22	46679905	46679905	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtcataactattggcaCtgggctttatatctgattga	9	7	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chr22:46679905C>A	uc003bhi.2	+	8	847	c.771C>A	c.(769-771)CAC>CAA	p.H257Q	TTC38_uc011aqx.1_Missense_Mutation_p.H199Q	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	257	TPR 3.						binding			ovary(1)	1						ACTATTGGCACTGGGCTTTAT	0.358													A	46679905	C	A	46679905	3	1	45	1	0	0	0	0	1	0	0	0	16703	564	20	5	801	5	TTC38	22	46679905	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	756050	46679905	4624661	1306	37662											
PPP2R3B	28227	broad.mit.edu	37	chrX	322220	322220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctcgatcttgctgatgaCggcatccacgttgacggagt	12	11	2	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:322220C>T	uc004cpg.2	-	2	631	c.430G>A	c.(430-432)GTC>ATC	p.V144I	PPP2R3B_uc011mha.1_5'UTR	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	144					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTGCTGATGACGGCATCCACG	0.632													T	322220	C	T	322220	3	4	45	1	0	0	0	0	1	0	0	0	12389	536	19	1	1345	1	PPP2R3B	23	322220	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08		322220	154948340	1307	37663											
CSF2RA	1438	broad.mit.edu	37	chrX	1413263	1413263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaccgtacgttgcaacaCgacgcactgcctcgtacggt	10	14	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:1413263C>T	uc010nct.2	+	9	1011	c.689C>T	c.(688-690)ACG>ATG	p.T230M	CSF2RA_uc011mhb.1_Missense_Mutation_p.T230M|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.T230M|CSF2RA_uc004cpo.2_Missense_Mutation_p.T230M|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Missense_Mutation_p.T97M|CSF2RA_uc004cpp.2_Missense_Mutation_p.T230M|CSF2RA_uc010ncv.2_Missense_Mutation_p.T230M|CSF2RA_uc004cpr.2_Missense_Mutation_p.T230M	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	230	Extracellular (Potential).					extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CGTTGCAACACGACGCACTGC	0.572													T	1413263	C	T	1413263	3	4	45	1	0	0	0	0	1	0	0	0	3934	536	19	1	711	1	CSF2RA	23	1413263	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1091043	1413263	153857297	1308	37664											
MXRA5	25878	broad.mit.edu	37	chrX	3228137	3228137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggtacccctgtcaaacaCcgaggcctcacgaaccgtga	9	14	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:3228137C>T	uc004crg.3	-	7	8264	c.8107G>A	c.(8107-8109)GTG>ATG	p.V2703M		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2703	Ig-like C2-type 11.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGTCAAACACCGAGGCCTCA	0.602													T	3228137	C	T	3228137	3	4	45	1	0	0	0	0	1	0	0	0	10003	507	18	4	383	4	MXRA5	23	3228137	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1814874	3228137	152042423	1309	37665											
MXRA5	25878	broad.mit.edu	37	chrX	3242753	3242753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttcaccatgttcccgtgctCgtcggtcatattcaaagaga	9	11	3	1	rs148104868		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:3242753C>T	uc004crg.3	-	5	1130	c.973G>A	c.(973-975)GAG>AAG	p.E325K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	325						extracellular region		p.E325D(1)		ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTCCCGTGCTCGTCGGTCATA	0.468													T	3242753	C	T	3242753	3	4	45	1	0	0	0	0	1	0	0	0	10003	893	31	1	7525	1	MXRA5	23	3242753	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	14616	3242753	152027807	1310	37666											
NLGN4X	57502	broad.mit.edu	37	chrX	6069136	6069136	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggcggtaaaccagatgggCagcatgtcatgcagtaagga	14	7	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:6069136C>A	uc010ndh.2	-	2	873	c.372G>T	c.(370-372)CTG>CTT	p.L124L	NLGN4X_uc004crp.2_Silent_p.L124L|NLGN4X_uc004crq.2_Silent_p.L124L|NLGN4X_uc010ndi.2_Silent_p.L124L|NLGN4X_uc004crr.2_Silent_p.L124L|NLGN4X_uc010ndj.2_Silent_p.L124L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	124	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						ACCAGATGGGCAGCATGTCAT	0.488													A	6069136	C	A	6069136	2	1	45	1	0	0	0	0	0	0	0	1	10464	697	25	5		5	NLGN4X	23	6069136	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2826383	6069136	149201424	1311	37667											
KAL1	3730	broad.mit.edu	37	chrX	8522076	8522076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttccagcgggcgagtgggtCgtcgtctttgaaaagggagt	16	8	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:8522076C>T	uc004csf.2	-	9	1421	c.1271G>A	c.(1270-1272)CGA>CAA	p.R424Q		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	424					axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						GCGAGTGGGTCGTCGTCTTTG	0.413													T	8522076	C	T	8522076	3	4	45	1	0	0	0	0	1	0	0	0	7974	884	31	1	795	1	KAL1	23	8522076	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2452940	8522076	146748484	1312	37668											
SHROOM2	357	broad.mit.edu	37	chrX	9900744	9900744	+	Frame_Shift_Del	DEL	G	G	-													gtggaagccagcatgtgagcGgggacgcatcacgtcctctg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:9900743_9900743CG>C	uc004csu.1	+	5	3510	c.3420_3420CG>C	c.(3418-3420)agcfs	p.S1140fs	SHROOM2_uc004csv.2_5'UTR|SHROOM2_uc011mic.1_5'UTR|SHROOM2_uc004csw.1_5'UTR	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1140					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGCATGTGAGCGGGGACGCAT	0.677													-	9900744	G	-	9900744	7	5	45	1	0	1	0	1	0	0	0	0	14294	1116	39	0	3443	0	SHROOM2	23	9900744	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	1378668	9900744	145369816	1313	37669											
BEND2	139105	broad.mit.edu	37	chrX	18189251	18189251	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatctagccgacaggcttgcGcaagacttagtttttgccaa	9	10	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:18189251G>A	uc004cyj.3	-	13	2209	c.2055C>T	c.(2053-2055)TGC>TGT	p.C685C	BEND2_uc010nfb.2_Silent_p.C594C	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	685	BEN 2.									ovary(3)|kidney(1)|central_nervous_system(1)	5						ACAGGCTTGCGCAAGACTTAG	0.428													A	18189251	G	A	18189251	2	1	45	1	0	0	0	0	0	0	0	1	1398	1079	38	1		1	BEND2	23	18189251	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	8288507	18189251	137081309	1314	37670											
PPEF1	5475	broad.mit.edu	37	chrX	18779675	18779676	+	Frame_Shift_Ins	INS	-	-	T													catgggaaactggatgatctINSttttttgatcttctacaagg							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:18779674_18779675C>CT	uc004cyq.3	+	8	1019_1020	c.538_539C>CT	c.(538-540)cttfs	p.L180fs	PPEF1_uc004cyp.3_Frame_Shift_Ins_p.L180fs|PPEF1_uc004cyr.3_Frame_Shift_Ins_p.L180fs|PPEF1_uc004cys.3_Frame_Shift_Ins_p.L180fs|PPEF1_uc011mja.2_Frame_Shift_Ins_p.L115fs|PPEF1_uc011mjb.2_Frame_Shift_Ins_p.L124fs	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	180	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					ACTGGATGATCTTTTTTTGATC	0.342													T	18779676	-	T	18779675	7	5	45	1	0	1	1	0	0	0	0	0	12307	1609	56	0	561	0	PPEF1	23	18779675	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	590424	18779675	136490885	1315	37671											
KLHL34	257240	broad.mit.edu	37	chrX	21674964	21674964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caactcttcctcttcttcctCgggctctggggcggcgacct	10	16	4	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:21674964C>T	uc004czz.1	-	1	1485	c.943G>A	c.(943-945)GAG>AAG	p.E315K		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	315	Glu-rich.									ovary(1)	1						tcttcttcctcGGGCTCTGGG	0.532													T	21674964	C	T	21674964	3	4	45	1	0	0	0	0	1	0	0	0	8387	893	31	1	995	1	KLHL34	23	21674964	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	2895289	21674964	133595596	1316	37672											
PHEX	5251	broad.mit.edu	37	chrX	22112144	22112144	+	Frame_Shift_Del	DEL	T	T	-													catggtggatactgccgtgcTtttaggagctaacagttcca							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:22112143_22112143CT>C	uc004dah.3	+	6	978	c.775_775CT>C	c.(775-777)cttfs	p.L259fs	PHEX_uc011mjr.2_Frame_Shift_Del_p.L259fs|PHEX_uc011mjs.2_Frame_Shift_Del_p.L162fs	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	259					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TACTGCCGTGCTTTTAGGAGC	0.398													-	22112144	T	-	22112144	7	5	45	1	0	1	0	1	0	0	0	0	11819	1609	56	0	802	0	PHEX	23	22112144	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	437180	22112144	133158416	1317	37673											
ZNF645	158506	broad.mit.edu	37	chrX	22291233	22291233	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccgttggggggacattaAgataaacatcataggtgaaa	11	5	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:22291233A>G	uc004dai.1	+	1	174	c.125A>G	c.(124-126)AAG>AGG	p.K42R		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	42						intracellular	zinc ion binding			lung(1)|pancreas(1)	2						GGGGACATTAAGATAAACATC	0.348													G	22291233	A	G	22291233	3	3	45	1	0	0	0	0	1	0	0	0	18058	72	3	3	127	3	ZNF645	23	22291233	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	179089	22291233	132979327	1318	37674											
DDX3X	1654	broad.mit.edu	37	chrX	41203054	41203054	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttattcagatggtccaggCgaggctttgagggccatgaa	13	7	1	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:41203054C>T	uc004dfe.2	+	8	1599	c.744C>T	c.(742-744)GGC>GGT	p.G248G	DDX3X_uc010nhf.1_Silent_p.G232G|DDX3X_uc004dff.2_Silent_p.G248G|DDX3X_uc011mkq.1_Silent_p.G232G|DDX3X_uc011mkr.1_Silent_p.G248G|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_Intron	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	248	Helicase ATP-binding.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						ATGGTCCAGGCGAGGCTTTGA	0.408										HNSCC(61;0.18)			T	41203054	C	T	41203054	2	4	45	1	0	0	0	0	0	0	0	1	4358	755	27	1		1	DDX3X	23	41203054	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	18911821	41203054	114067506	1319	37675											
ZNF81	347344	broad.mit.edu	37	chrX	47775480	47775480	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgactgtgggaaatctTtcccttctaagtcacaactc	8	11	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:47775480T>C	uc010nhy.1	+	6	1803	c.1435T>C	c.(1435-1437)TTC>CTC	p.F479L		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	479	C2H2-type 6.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)				TGGGAAATCTTTCCCTTCTAA	0.433													C	47775480	T	C	47775480	3	2	45	1	0	0	0	0	1	0	0	0	18171	1841	64	3	1449	3	ZNF81	23	47775480	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	6572426	47775480	107495080	1320	37676											
OTUD5	55593	broad.mit.edu	37	chrX	48781133	48781133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaagtcactgacctggcGcacagggcgaaggaggtttg	17	9	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:48781133G>A	uc004dlu.2	-	7	1536	c.1475C>T	c.(1474-1476)GCG>GTG	p.A492V	OTUD5_uc004dlt.3_Missense_Mutation_p.A487V|OTUD5_uc004dlv.2_Missense_Mutation_p.A487V|OTUD5_uc011mmp.1_Missense_Mutation_p.A270V	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN	OTU domain containing 5 isoform a	492					negative regulation of type I interferon production		cysteine-type peptidase activity			pancreas(1)	1						CTGACCTGGCGCACAGGGCGA	0.493													A	48781133	G	A	48781133	3	1	45	1	0	0	0	0	1	0	0	0	11315	1087	38	1	252	1	OTUD5	23	48781133	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	1005653	48781133	106489427	1321	37677											
TFE3	7030	broad.mit.edu	37	chrX	48887806	48887806	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgacagtcctcccaccacccCctcctcctcctccatcagaa	3	23	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:48887806C>G	uc004dmb.3	-	10	1829	c.1591G>C	c.(1591-1593)GGG>CGG	p.G531R	TFE3_uc004dmc.3_Missense_Mutation_p.G426R	NM_006521	NP_006512	P19532	TFE3_HUMAN	transcription factor E3	531					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						CCCACCACCCCCTCCTCCTCC	0.662			T	SFPQ|ASPSCR1|PRCC|NONO|CLTC	papillary renal|alveolar soft part sarcoma|renal								G	48887806	C	G	48887806	3	3	45	1	0	0	0	0	1	0	0	0	15797	623	22	5	140	5	TFE3	23	48887806	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	106673	48887806	106382754	1322	37678											
PPP1R3F	89801	broad.mit.edu	37	chrX	49127204	49127204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccggatcgcacccgctcCcacacccactgatgccgaag	9	19	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:49127204C>T	uc004dnh.1	+	1	888	c.872C>T	c.(871-873)CCC>CTC	p.P291L	PPP1R3F_uc011mnd.1_5'UTR|PPP1R3F_uc004dni.2_Intron	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	291	Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)					GCACCCGCTCCCACACCCACT	0.677													T	49127204	C	T	49127204	3	4	45	1	0	0	0	0	1	0	0	0	12375	623	22	4	874	4	PPP1R3F	23	49127204	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	239398	49127204	106143356	1323	37679											
HUWE1	10075	broad.mit.edu	37	chrX	53574996	53574996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtggagaggcctcgaggCtgtatggagaggtttccccc	15	11	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:53574996C>T	uc004dsp.2	-	68	10676	c.10274G>A	c.(10273-10275)AGC>AAC	p.S3425N	HUWE1_uc004dsn.2_Missense_Mutation_p.S2233N	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3425					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GGCCTCGAGGCTGTATGGAGA	0.542													T	53574996	C	T	53574996	3	4	45	1	0	0	0	0	1	0	0	0	7461	797	28	2	2918	2	HUWE1	23	53574996	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	4447792	53574996	101695564	1324	37680											
FAM120C	54954	broad.mit.edu	37	chrX	54107839	54107839	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccagcccactggcccAcaaccatcccagcaatctcc	6	20	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:54107839A>G	uc004dsz.3	-	14	2977	c.2894T>C	c.(2893-2895)GTG>GCG	p.V965A	FAM120C_uc011moh.1_Missense_Mutation_p.W828R	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	965										ovary(1)|central_nervous_system(1)	2						CCACTGGCCCACAACCATCCC	0.507													G	54107839	A	G	54107839	3	3	45	1	0	0	0	0	1	0	0	0	5418	159	6	3	408	3	FAM120C	23	54107839	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	532843	54107839	101162721	1325	37681											
TSR2	90121	broad.mit.edu	37	chrX	54470537	54470537	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcatcactcagagaaaatgcAaggtcacagccactgcactt	8	12	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:54470537A>T	uc004dte.2	+	4	363	c.361A>T	c.(361-363)AAG>TAG	p.K121*	TSR2_uc004dtf.2_Nonsense_Mutation_p.K26*	NM_058163	NP_477511	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog	121					rRNA processing		protein binding				0						GAGAAAATGCAAGGTCACAGC	0.547													T	54470537	A	T	54470537	4	4	45	1	0	0	0	0	0	1	0	0	16662	131	5	5	375	5	TSR2	23	54470537	Nonsense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	362698	54470537	100800023	1326	37682											
ITIH5L	347365	broad.mit.edu	37	chrX	54815025	54815025	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgtcgggcagtaggtgAttcggacacaggtctctccc	13	11	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:54815025A>T	uc004dtj.2	-	5	704	c.674T>A	c.(673-675)ATC>AAC	p.I225N		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	225					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						GCAGTAGGTGATTCGGACACA	0.572													T	54815025	A	T	54815025	3	4	45	1	0	0	0	0	1	0	0	0	7908	333	12	5	3303	5	ITIH5L	23	54815025	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	344488	54815025	100455535	1327	37683											
ALAS2	212	broad.mit.edu	37	chrX	55047483	55047483	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctgaaagcctactactcActgtgtggcttgcaagacct	10	11	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:55047483A>G	uc004dua.3	-	5	776	c.638_splice	c.e5+1	p.Q213_splice	ALAS2_uc004dub.3_Splice_Site_p.Q200_splice|ALAS2_uc004dud.3_Splice_Site_p.Q176_splice	NM_000032	NP_000023	P22557	HEM0_HUMAN	5-aminolevulinate synthase 2 isoform a						cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(1)	1					Glycine(DB00145)	CCTACTACTCACTGTGTGGCT	0.493													G	55047483	A	G	55047483	5	3	45	1	0	0	0	0	0	0	1	0	485	173	6	3	1151	3	ALAS2	23	55047483	Splice_Site	SNP	A	TCGA-BR-6852-01A-11D-1882-08	232458	55047483	100223077	1328	37684											
RRAGB	10325	broad.mit.edu	37	chrX	55757850	55757850	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccaacgggacaacatcttccGaaatgtggaggttctgattt	10	9	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:55757850G>T	uc004dup.2	+	6	1082	c.431G>T	c.(430-432)CGA>CTA	p.R144L	RRAGB_uc004duq.2_Missense_Mutation_p.R116L	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B long isoform	144					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding				0						AACATCTTCCGAAATGTGGAG	0.398													T	55757850	G	T	55757850	3	4	45	1	0	0	0	0	1	0	0	0	13673	1058	37	5	453	5	RRAGB	23	55757850	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	710367	55757850	99512710	1329	37685											
ZXDA	7789	broad.mit.edu	37	chrX	57936033	57936033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttggcgaaggtttgcccGcacagcgcctcggggcacag	14	13	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:57936033G>A	uc004dve.2	-	1	1035	c.822C>T	c.(820-822)TGC>TGT	p.C274C		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	274	C2H2-type 1.|Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						AGGTTTGCCCGCACAGCGCCT	0.706													A	57936033	G	A	57936033	2	1	45	1	0	0	0	0	0	0	0	1	18247	1079	38	1		1	ZXDA	23	57936033	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2178183	57936033	97334527	1330	37686											
MTMR8	55613	broad.mit.edu	37	chrX	63579408	63579408	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accaatttcacgttttctacCtgttattggaggaaaaaata	6	7	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:63579408C>G	uc004dvs.2	-	2	93	c.25_splice	c.e2-1	p.V9_splice	MTMR8_uc011mou.1_Splice_Site_p.V9_splice|MTMR8_uc004dvt.1_Splice_Site_p.V9_splice	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8							nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						CGTTTTCTACCTGTTATTGGA	0.393													G	63579408	C	G	63579408	5	3	45	1	0	0	0	0	0	0	1	0	9949	695	24	5	2142	5	MTMR8	23	63579408	Splice_Site	SNP	C	TCGA-BR-6852-01A-11D-1882-08	5643375	63579408	91691152	1331	37687											
AR	367	broad.mit.edu	37	chrX	66943587	66943587	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaagtcacacatggtgagCgtggactttccggaaatgat	11	8	2	2	rs137852594		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:66943587C>T	uc004dwu.1	+	8	3782	c.2667C>T	c.(2665-2667)AGC>AGT	p.S889S	AR_uc004dwv.1_Silent_p.S357S	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	888	Ligand-binding.|Interaction with MYST2.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	ACATGGTGAGCGTGGACTTTC	0.473									Androgen_Insensitivity_Syndrome				T	66943587	C	T	66943587	2	4	45	1	0	0	0	0	0	0	0	1	836	767	27	1		1	AR	23	66943587	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3364179	66943587	88326973	1332	37688											
OPHN1	4983	broad.mit.edu	37	chrX	67430049	67430049	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtcctggaagtttgcAtgtctggggagcttctttca	13	8	3	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:67430049A>G	uc004dww.3	-	9	1072	c.778T>C	c.(778-780)TGC>CGC	p.C260R	OPHN1_uc011mpg.1_Missense_Mutation_p.C260R|OPHN1_uc004dwx.2_Missense_Mutation_p.C260R	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	260					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2						GGAAGTTTGCATGTCTGGGGA	0.403													G	67430049	A	G	67430049	3	3	45	1	0	0	0	0	1	0	0	0	10875	217	8	3	1694	3	OPHN1	23	67430049	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	486462	67430049	87840511	1333	37689											
IGBP1	3476	broad.mit.edu	37	chrX	69354476	69354476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaagtcaaccccagcaagCgtctagatcatttgcagcgg	9	12	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:69354476C>T	uc004dxv.2	+	2	791	c.292C>T	c.(292-294)CGT>TGT	p.R98C	IGBP1_uc004dxw.2_Missense_Mutation_p.R98C	NM_001551	NP_001542	P78318	IGBP1_HUMAN	immunoglobulin binding protein 1	98					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(1)|pancreas(1)	2						CCCCAGCAAGCGTCTAGATCA	0.463													T	69354476	C	T	69354476	3	4	45	1	0	0	0	0	1	0	0	0	7567	768	27	1	298	1	IGBP1	23	69354476	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1924427	69354476	85916084	1334	37690											
ZDHHC15	158866	broad.mit.edu	37	chrX	74641702	74641702	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggtaatatttactcacctgGaaccaataggtattaaccag	7	8	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:74641702G>T	uc004ecg.2	-	9	1338	c.860C>A	c.(859-861)TCC>TAC	p.S287Y	ZDHHC15_uc004ech.2_Missense_Mutation_p.S278Y|ZDHHC15_uc011mqo.1_RNA	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15 isoform 1	287						integral to membrane	zinc ion binding			ovary(2)	2						TACTCACCTGGAACCAATAGG	0.418													T	74641702	G	T	74641702	3	4	45	1	0	0	0	0	1	0	0	0	17602	1174	41	5	165	5	ZDHHC15	23	74641702	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	5287226	74641702	80628858	1335	37691											
ATRX	546	broad.mit.edu	37	chrX	76938509	76938509	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagtatctgaagaagaacTgtgactcatcctgctcacct	7	11	4	4			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:76938509T>C	uc004ecp.3	-	9	2471	c.2239A>G	c.(2239-2241)AGT>GGT	p.S747G	ATRX_uc004ecq.3_Missense_Mutation_p.S709G|ATRX_uc004eco.3_Missense_Mutation_p.S532G|ATRX_uc004ecr.2_Missense_Mutation_p.S679G|ATRX_uc010nlx.1_Missense_Mutation_p.S718G|ATRX_uc010nly.1_Missense_Mutation_p.S692G	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	747	Poly-Ser.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	GAAGAAGAACTGTGACTCATC	0.348			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76938509	T	C	76938509	3	2	45	1	0	0	0	0	1	0	0	0	1208	1580	55	3	5347	3	ATRX	23	76938509	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	2296807	76938509	78332051	1336	37692											
PCDH19	57526	broad.mit.edu	37	chrX	99551740	99551740	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcagcagtagcttcaatAgacagcgcgatgatgttcct	10	10	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:99551740A>G	uc010nmz.2	-	6	4658	c.2982T>C	c.(2980-2982)TCT>TCC	p.S994S	PCDH19_uc004efw.3_Silent_p.S946S|PCDH19_uc004efx.3_Silent_p.S947S	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	994	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						TAGCTTCAATAGACAGCGCGA	0.582													G	99551740	A	G	99551740	2	3	45	1	0	0	0	0	0	0	0	1	11514	407	15	3		3	PCDH19	23	99551740	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	22613231	99551740	55718820	1337	37693											
PCDH19	57526	broad.mit.edu	37	chrX	99662844	99662844	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgacgggtgtgttgggaggcGagttttctggcacgctcacc	16	9	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:99662844G>T	uc010nmz.2	-	1	2428	c.752C>A	c.(751-753)TCG>TAG	p.S251*	PCDH19_uc004efw.3_Nonsense_Mutation_p.S251*|PCDH19_uc004efx.3_Nonsense_Mutation_p.S251*	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	251	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						GTTGGGAGGCGAGTTTTCTGG	0.602													T	99662844	G	T	99662844	4	4	45	1	0	0	0	0	0	1	0	0	11514	1059	37	5	2718	5	PCDH19	23	99662844	Nonsense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	111104	99662844	55607716	1338	37694											
CSTF2	1478	broad.mit.edu	37	chrX	100078882	100078882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttatcttctcagctctgtgTccagaatagtccccaggagg	9	12	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:100078882T>C	uc004egh.2	+	5	510	c.452T>C	c.(451-453)GTC>GCC	p.V151A	CSTF2_uc010nnd.2_Missense_Mutation_p.V151A|CSTF2_uc004egi.2_Missense_Mutation_p.V151A	NM_001325	NP_001316	P33240	CSTF2_HUMAN	cleavage stimulation factor subunit 2	151	Interactions with CSTF3 and SYMPK.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding			skin(1)	1						CAGCTCTGTGTCCAGAATAGT	0.428													C	100078882	T	C	100078882	3	2	45	1	0	0	0	0	1	0	0	0	3984	1667	58	3	470	3	CSTF2	23	100078882	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	416038	100078882	55191678	1339	37695											
DRP2	1821	broad.mit.edu	37	chrX	100515504	100515504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgatgtggggtcaaagaGccaggatgtcagcctgtgct	15	7	2	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:100515504G>A	uc004egz.2	+	24	3137	c.2768G>A	c.(2767-2769)AGC>AAC	p.S923N	DRP2_uc011mrh.1_Missense_Mutation_p.S845N	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	923					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						GGGTCAAAGAGCCAGGATGTC	0.507													A	100515504	G	A	100515504	3	1	45	1	0	0	0	0	1	0	0	0	4764	971	34	2	2854	2	DRP2	23	100515504	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	436622	100515504	54755056	1340	37696											
TAF7L	54457	broad.mit.edu	37	chrX	100533996	100533997	+	Frame_Shift_Ins	INS	-	-	T													tctacctcagtaaagctgctINStttttccatttctttgacat							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:100533995_100533996C>CT	uc004ehb.3	-	6	774_775	c.748_749G>AG	c.(748-750)agcfs	p.S250fs	TAF7L_uc004eha.3_Frame_Shift_Ins_p.S164fs|TAF7L_uc004ehc.2_Frame_Shift_Ins_p.S164fs	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	250					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AGTAAAGCTGCTTTTTTCCATT	0.282													T	100533997	-	T	100533996	7	5	45	1	0	1	1	0	0	0	0	0	15530	1609	56	0	668	0	TAF7L	23	100533996	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	18492	100533996	54736564	1341	37697											
NXF2B	728343	broad.mit.edu	37	chrX	101623733	101623733	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatctccatttggcctggcTtcaacttattcttcacagag	7	12	4	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:101623733T>G	uc004ejb.3	-	19	2501	c.629A>C	c.(628-630)AAG>ACG	p.K210T	NXF2B_uc004eiz.3_Missense_Mutation_p.K122T|NXF2B_uc004eja.3_Missense_Mutation_p.K210T|NXF2_uc004eiy.3_Missense_Mutation_p.K210T	NM_001099686	NP_001093156	Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B	210					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|RNA binding			ovary(1)	1						TTGGCCTGGCTTCAACTTATT	0.478													G	101623733	T	G	101623733	3	3	45	1	0	0	0	0	1	0	0	0	10784	1609	56	5	3280	5	NXF2B	23	101623733	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	1089737	101623733	53646827	1342	37698											
GPRASP2	114928	broad.mit.edu	37	chrX	101969892	101969892	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagagagagaatgatgTccctctggtggtcagaccca	13	10	2	5			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:101969892T>C	uc004ejk.2	+	4	1429	c.95T>C	c.(94-96)GTC>GCC	p.V32A	GPRASP2_uc004ejl.2_Missense_Mutation_p.V32A|GPRASP2_uc004ejm.2_Missense_Mutation_p.V32A|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	32						cytoplasm	protein binding			ovary(1)	1						GAGAATGATGTCCCTCTGGTG	0.542													C	101969892	T	C	101969892	3	2	45	1	0	0	0	0	1	0	0	0	6723	1667	58	3	97	3	GPRASP2	23	101969892	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	346159	101969892	53300668	1343	37699											
NRK	203447	broad.mit.edu	37	chrX	105178281	105178281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaatgaggcctcaaatgCcattgactcaggtgctgcac	11	10	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:105178281C>T	uc004emd.2	+	20	3647	c.3344C>T	c.(3343-3345)GCC>GTC	p.A1115V	NRK_uc010npc.1_Missense_Mutation_p.A783V	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1115							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						GCCTCAAATGCCATTGACTCA	0.413										HNSCC(51;0.14)			T	105178281	C	T	105178281	3	4	45	1	0	0	0	0	1	0	0	0	10655	739	26	2	3422	2	NRK	23	105178281	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	3208389	105178281	50092279	1344	37700											
NRK	203447	broad.mit.edu	37	chrX	105179301	105179301	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttcacttctgagatctgCtgtggttctttgtggggtga	14	6	4	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:105179301C>T	uc004emd.2	+	21	3942	c.3639C>T	c.(3637-3639)TGC>TGT	p.C1213C	NRK_uc010npc.1_Silent_p.C881C	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1213	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						CTGAGATCTGCTGTGGTTCTT	0.353										HNSCC(51;0.14)			T	105179301	C	T	105179301	2	4	45	1	0	0	0	0	0	0	0	1	10655	805	28	2		2	NRK	23	105179301	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1020	105179301	50091259	1345	37701											
MUM1L1	139221	broad.mit.edu	37	chrX	105451074	105451074	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggatgaaggctgctcgggAccgagccaacaagaacctgg	14	12	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:105451074A>G	uc004emf.1	+	4	2298	c.1649A>G	c.(1648-1650)GAC>GGC	p.D550G	MUM1L1_uc004emg.1_Missense_Mutation_p.D550G	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	550										ovary(2)|pancreas(1)|skin(1)	4						GCTGCTCGGGACCGAGCCAAC	0.488													G	105451074	A	G	105451074	3	3	45	1	0	0	0	0	1	0	0	0	9986	275	10	3	1651	3	MUM1L1	23	105451074	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	271773	105451074	49819486	1346	37702											
TBC1D8B	54885	broad.mit.edu	37	chrX	106070528	106070528	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaactcaggctcagatgCggagcagcttcaactcaata	9	11	4	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:106070528C>T	uc004emo.2	+	7	1329	c.1164C>T	c.(1162-1164)TGC>TGT	p.C388C	MORC4_uc004emp.3_Intron|TBC1D8B_uc004emm.2_Silent_p.C388C|TBC1D8B_uc004emn.2_Silent_p.C388C	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	388						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GGCTCAGATGCGGAGCAGCTT	0.378													T	106070528	C	T	106070528	2	4	45	1	0	0	0	0	0	0	0	1	15623	776	27	1		1	TBC1D8B	23	106070528	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	619454	106070528	49200032	1347	37703											
MORC4	79710	broad.mit.edu	37	chrX	106236537	106236537	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacaagatttattcttgacCtcctcaacatctataaagac	3	10	3	3			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:106236537C>A	uc004emu.3	-	3	474	c.231G>T	c.(229-231)GAG>GAT	p.E77D	MORC4_uc004emp.3_Translation_Start_Site|MORC4_uc004emv.3_Missense_Mutation_p.E77D|MORC4_uc004emw.3_Translation_Start_Site	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	77							ATP binding|zinc ion binding			ovary(1)	1						TATTCTTGACCTCCTCAACAT	0.393													A	106236537	C	A	106236537	3	1	45	1	0	0	0	0	1	0	0	0	9704	680	24	5	2642	5	MORC4	23	106236537	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	166009	106236537	49034023	1348	37704											
COL4A6	1288	broad.mit.edu	37	chrX	107448667	107448667	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtattttttaaaagctgtttAccttgactcctttctctcct	4	10	1	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:107448667A>G	uc004enw.3	-	11	793	c.690_splice	c.e11+1	p.K230_splice	COL4A6_uc004env.3_Splice_Site_p.K229_splice|COL4A6_uc011msn.1_Splice_Site_p.K229_splice|COL4A6_uc010npk.2_Splice_Site_p.K229_splice	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor						cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						AAAGCTGTTTACCTTGACTCC	0.403									Alport_syndrome_with_Diffuse_Leiomyomatosis				G	107448667	A	G	107448667	5	3	45	1	0	0	0	0	0	0	1	0	3695	405	14	3	4523	3	COL4A6	23	107448667	Splice_Site	SNP	A	TCGA-BR-6852-01A-11D-1882-08	1212130	107448667	47821893	1349	37705											
CAPN6	827	broad.mit.edu	37	chrX	110494317	110494317	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaagttgcggcaaaagTcctccaagctcatcctgaat	9	10	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:110494317T>G	uc004epc.1	-	8	1154	c.986A>C	c.(985-987)GAC>GCC	p.D329A	CAPN6_uc011msu.1_Missense_Mutation_p.D74A	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	329	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						GCGGCAAAAGTCCTCCAAGCT	0.443													G	110494317	T	G	110494317	3	3	45	1	0	0	0	0	1	0	0	0	2630	1667	58	5	963	5	CAPN6	23	110494317	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	3045650	110494317	44776243	1350	37706											
CXorf56	63932	broad.mit.edu	37	chrX	118694234	118694234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcatcaacctcttacctcCgcagatacatagtctcctca	5	15	4	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:118694234C>T	uc004erk.1	-	2	285	c.239G>A	c.(238-240)CGG>CAG	p.R80Q	CXorf56_uc004erj.1_Missense_Mutation_p.R31Q|CXorf56_uc011mtu.1_Missense_Mutation_p.R80Q	NM_022101	NP_071384	Q9H5V9	CX056_HUMAN	hypothetical protein LOC63932	80							protein binding				0						CTCTTACCTCCGCAGATACAT	0.438													T	118694234	C	T	118694234	3	4	45	1	0	0	0	0	1	0	0	0	4112	652	23	1	453	1	CXorf56	23	118694234	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	8199917	118694234	36576326	1351	37707											
AKAP14	158798	broad.mit.edu	37	chrX	119048691	119048691	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaaaaaatgctgggcacaTggcgtagagtttgtagagag	13	5	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:119048691T>C	uc004ese.2	+	5	429	c.291T>C	c.(289-291)CAT>CAC	p.H97H	AKAP14_uc004esf.2_Intron	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14 isoform a	97						cytoplasm					0						GCTGGGCACATGGCGTAGAGT	0.398													C	119048691	T	C	119048691	2	2	45	1	0	0	0	0	0	0	0	1	450	1461	51	3		3	AKAP14	23	119048691	Silent	SNP	T	TCGA-BR-6852-01A-11D-1882-08	354457	119048691	36221869	1352	37708											
C1GALT1C1	29071	broad.mit.edu	37	chrX	119760212	119760212	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaacagccatatctgaacaAcagccttctactacctggtt	6	12	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:119760212A>C	uc004esy.2	-	3	1157	c.810T>G	c.(808-810)TGT>TGG	p.C270W	C1GALT1C1_uc004esz.2_Missense_Mutation_p.C270W	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	270	Lumenal (Potential).					integral to membrane					0						TATCTGAACAACAGCCTTCTA	0.403													C	119760212	A	C	119760212	3	2	45	1	0	0	0	0	1	0	0	0	1953	41	2	5	150	5	C1GALT1C1	23	119760212	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	711521	119760212	35510348	1353	37709											
STAG2	10735	broad.mit.edu	37	chrX	123196831	123196831	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgccgtggcccttcctcAgttattagcaaaagtaagtt	8	9	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:123196831A>G	uc004etz.3	+	17	2057	c.1718A>G	c.(1717-1719)CAG>CGG	p.Q573R	STAG2_uc004eua.2_Missense_Mutation_p.Q573R|STAG2_uc004eub.2_Missense_Mutation_p.Q573R|STAG2_uc004euc.2_Missense_Mutation_p.Q573R|STAG2_uc004eud.2_Missense_Mutation_p.Q573R|STAG2_uc004eue.2_Missense_Mutation_p.Q573R	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	573					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						GCCCTTCCTCAGTTATTAGCA	0.358													G	123196831	A	G	123196831	3	3	45	1	0	0	0	0	1	0	0	0	15242	188	7	3	1780	3	STAG2	23	123196831	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	3436619	123196831	32073729	1354	37710											
STAG2	10735	broad.mit.edu	37	chrX	123217382	123217382	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttctaaactacttcgAcaagacaaaagaacagtgta	5	8	2	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:123217382A>G	uc004etz.3	+	28	3375	c.3036A>G	c.(3034-3036)CGA>CGG	p.R1012R	STAG2_uc004eua.2_Silent_p.R1012R|STAG2_uc004eub.2_Silent_p.R1012R|STAG2_uc004euc.2_Silent_p.R1012R|STAG2_uc004eud.2_Silent_p.R1012R|STAG2_uc004eue.2_Silent_p.R1012R	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	1012					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						AACTACTTCGACAAGACAAAA	0.343													G	123217382	A	G	123217382	2	3	45	1	0	0	0	0	0	0	0	1	15242	262	10	3		3	STAG2	23	123217382	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	20551	123217382	32053178	1355	37711											
ODZ1	10178	broad.mit.edu	37	chrX	123775719	123775719	+	Missense_Mutation	SNP	A	A	T													aagaaaagttccgtgtcctgAgcactgctcttgacatacag							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:123775719A>T	uc004euj.2	-	11	2063	c.1999T>A	c.(1999-2001)TCA>ACA	p.S667T	ODZ1_uc011muj.1_Missense_Mutation_p.S666T|ODZ1_uc010nqy.2_Missense_Mutation_p.S667T	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	667	EGF-like 5.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						CCGTGTCCTGAGCACTGCTCT	0.478													T	123775719	A	T	123775719	3	4	45	1	0	0	0	0	1	0	0	0	10834	304	11	5	6287	5	ODZ1	23	123775719	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	558337	123775719	31494841	1356	37712	120	2									
ODZ1	10178	broad.mit.edu	37	chrX	123775729	123775729	+	Missense_Mutation	SNP	T	T	G													ccgtgtcctgagcactgctcTtgacatacaggaagtggtgt							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:123775729T>G	uc004euj.2	-	11	2053	c.1989A>C	c.(1987-1989)CAA>CAC	p.Q663H	ODZ1_uc011muj.1_Missense_Mutation_p.Q662H|ODZ1_uc010nqy.2_Missense_Mutation_p.Q663H	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	663	EGF-like 5.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						AGCACTGCTCTTGACATACAG	0.493													G	123775729	T	G	123775729	3	3	45	1	0	0	0	0	1	0	0	0	10834	1606	56	5	6297	5	ODZ1	23	123775729	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	10	123775729	31494831	1357	37713	120	2									
SMARCA1	6594	broad.mit.edu	37	chrX	128605245	128605245	+	Frame_Shift_Del	DEL	T	T	-													gaggttcagctccatcaatcTttttttgctcttctctttga							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:128605244_128605244CT>C	uc011muk.1	-	19	2615	c.2502_2502AG>G	c.(2500-2502)aagfs	p.K834fs	SMARCA1_uc004eun.4_Frame_Shift_Del_p.K834fs|SMARCA1_uc004eup.4_Frame_Shift_Del_p.K822fs|SMARCA1_uc011mul.1_Frame_Shift_Del_p.K822fs	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	834					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CTCCATCAATCTTTTTTTGCT	0.358													-	128605245	T	-	128605245	7	5	45	1	0	1	0	1	0	0	0	0	14768	1609	56	0	683	0	SMARCA1	23	128605245	Frame_Shift_Del	DEL	T	TCGA-BR-6852-01A-11D-1882-08	4829516	128605245	26665315	1358	37714											
ZDHHC9	51114	broad.mit.edu	37	chrX	128944952	128944952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttccactttcctccagtgGcaaaataccccttcgatcca	4	16	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:128944952G>A	uc004euv.2	-	9	1276	c.907C>T	c.(907-909)CCA>TCA	p.P303S	ZDHHC9_uc004euw.2_Missense_Mutation_p.P303S	NM_001008222	NP_001008223	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC domain containing 9	303	Cytoplasmic (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1						TCCTCCAGTGGCAAAATACCC	0.527													A	128944952	G	A	128944952	3	1	45	1	0	0	0	0	1	0	0	0	17619	1203	42	2	195	2	ZDHHC9	23	128944952	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	339707	128944952	26325608	1359	37715											
ZNF280C	55609	broad.mit.edu	37	chrX	129380885	129380885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacaaagatcagttcatcGtcatcctcatcctgagtttc	5	13	4	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:129380885G>A	uc004evm.2	-	3	280	c.126C>T	c.(124-126)GAC>GAT	p.D42D	ZNF280C_uc010nrf.1_Silent_p.D42D	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	42					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3						TCAGTTCATCGTCATCCTCAT	0.368													A	129380885	G	A	129380885	2	1	45	1	0	0	0	0	0	0	0	1	17813	1136	40	1		1	ZNF280C	23	129380885	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	435933	129380885	25889675	1360	37716											
DDX26B	203522	broad.mit.edu	37	chrX	134703344	134703344	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacttaaaaactctgcctccAtactacctattagtatgtat	3	10	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:134703344A>G	uc004eyw.3	+	10	1638	c.1275A>G	c.(1273-1275)CCA>CCG	p.P425P	DDX26B_uc004eyx.3_5'UTR	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	425											0	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGCCTCCATACTACCTAT	0.318													G	134703344	A	G	134703344	2	3	45	1	0	0	0	0	0	0	0	1	4353	204	8	3		3	DDX26B	23	134703344	Silent	SNP	A	TCGA-BR-6852-01A-11D-1882-08	5322459	134703344	20567216	1361	37717											
MAP7D3	79649	broad.mit.edu	37	chrX	135314039	135314039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctcaactcgggggatgcGtccatgctcatctcagaatc	10	12	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:135314039G>A	uc004ezt.2	-	8	1168	c.1077C>T	c.(1075-1077)GAC>GAT	p.D359D	MAP7D3_uc004ezs.2_Silent_p.D323D|MAP7D3_uc011mwc.1_Silent_p.D341D|MAP7D3_uc010nsa.1_Silent_p.D317D	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	359						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CGGGGGATGCGTCCATGCTCA	0.587													A	135314039	G	A	135314039	2	1	45	1	0	0	0	0	0	0	0	1	9269	1136	40	1		1	MAP7D3	23	135314039	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	610695	135314039	19956521	1362	37718											
FGF13	2258	broad.mit.edu	37	chrX	137715071	137715071	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcacgccagagacacttctGctcttggttggggtcccgct	12	13	2	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:137715071G>T	uc004fam.2	-	5	1340	c.678C>A	c.(676-678)AGC>AGA	p.S226R	FGF13_uc004fan.2_Missense_Mutation_p.S173R|FGF13_uc011mwi.1_Missense_Mutation_p.S207R|FGF13_uc004faq.2_Missense_Mutation_p.S236R|FGF13_uc004far.2_Missense_Mutation_p.S207R|FGF13_uc011mwj.1_Missense_Mutation_p.S236R|FGF13_uc011mwk.1_Missense_Mutation_p.S180R	NM_004114	NP_004105	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 1	226					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					AGACACTTCTGCTCTTGGTTG	0.522													T	137715071	G	T	137715071	3	4	45	1	0	0	0	0	1	0	0	0	5842	1310	46	5	63	5	FGF13	23	137715071	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	2401032	137715071	17555489	1363	37719											
FGF13	2258	broad.mit.edu	37	chrX	137939823	137939824	+	Frame_Shift_Ins	INS	-	-	G													aatgtattcctgtgtgccagINSggggggcgtcatccagaact							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:137939822_137939823A>AG	uc004faq.3	-	1	244_245	c.68_69T>CT	c.(67-69)cctfs	p.P23fs	FGF13_uc011mwi.2_5'UTR|FGF13_uc004far.3_5'UTR|FGF13_uc011mwj.2_Frame_Shift_Ins_p.P23fs|FGF13_uc011mwk.2_Intron	NM_001139502	NP_001132974	Q92913	FGF13_HUMAN	Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 5, mRNA.	0					MAPKKK cascade|cell-cell signaling|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CCTGTGTGCCAGGGGGGGCGTC	0.431													G	137939824	-	G	137939823	7	5	45	1	0	1	1	0	0	0	0	0	5842	1000	35	0	942	0	FGF13	23	137939823	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	224752	137939823	17330737	1364	37720											
SOX3	6658	broad.mit.edu	37	chrX	139586596	139586596	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtcttggtcttgcggcgCggtcggtacttgtagtccgg	16	10	2	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:139586596C>T	uc004fbd.1	-	1	630	c.630G>A	c.(628-630)CCG>CCA	p.P210P		NM_005634	NP_005625	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	210					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			pancreas(1)	1	Acute lymphoblastic leukemia(192;7.65e-05)					TCTTGCGGCGCGGTCGGTACT	0.512													T	139586596	C	T	139586596	2	4	45	1	0	0	0	0	0	0	0	1	14951	755	27	1		1	SOX3	23	139586596	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1646773	139586596	15683964	1365	37721											
MAGEC3	139081	broad.mit.edu	37	chrX	140953283	140953283	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaggccacagataaggaCtattctgcctttcatcttgg	8	9	3	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:140953283C>A	uc011mwp.1	+	2	150	c.150C>A	c.(148-150)GAC>GAA	p.D50E		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	50								p.D50N(1)		skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CAGATAAGGACTATTCTGCCT	0.507													A	140953283	C	A	140953283	3	1	45	1	0	0	0	0	1	0	0	0	9182	564	20	5	156	5	MAGEC3	23	140953283	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	1366687	140953283	14317277	1366	37722											
MAGEA3	4102	broad.mit.edu	37	chrX	151935622	151935622	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccatcgtaggagaggcccAggcaggtggcaaagatgtac	16	9	0	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:151935622A>G	uc004fgp.2	-	3	754	c.545T>C	c.(544-546)CTG>CCG	p.L182P		NM_005362	NP_005353	P43357	MAGA3_HUMAN	melanoma antigen family A, 3	182	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGAGGCCCAGGCAGGTGGC	0.557													G	151935622	A	G	151935622	3	3	45	1	0	0	0	0	1	0	0	0	9167	188	7	3	403	3	MAGEA3	23	151935622	Missense_Mutation	SNP	A	TCGA-BR-6852-01A-11D-1882-08	10982339	151935622	3334938	1367	37723											
NSDHL	50814	broad.mit.edu	37	chrX	152018835	152018835	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatgcacagtgatcggtggCtctggattcctggggcagca	15	9	1	2			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:152018835C>A	uc004fgt.1	+	4	396	c.135C>A	c.(133-135)GGC>GGA	p.G45G	NSDHL_uc004fgs.1_Silent_p.G45G	NM_001129765	NP_001123237	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	45					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity				0	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	TGATCGGTGGCTCTGGATTCC	0.517													A	152018835	C	A	152018835	2	1	45	1	0	0	0	0	0	0	0	1	10670	784	28	5		5	NSDHL	23	152018835	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	83213	152018835	3251725	1368	37724											
ZNF275	10838	broad.mit.edu	37	chrX	152612686	152612686	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagagggaggcaaagcccttCgagtgcgaggagtgcggaaa	18	7	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:152612686C>T	uc004fhg.1	+	4	720	c.543C>T	c.(541-543)TTC>TTT	p.F181F	ZNF275_uc011mym.1_Silent_p.F181F|ZNF275_uc011myn.1_Silent_p.F118F			A6NFS0	A6NFS0_HUMAN	SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;	181						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAAAGCCCTTCGAGTGCGAGG	0.602													T	152612686	C	T	152612686	2	4	45	1	0	0	0	0	0	0	0	1	17807	883	31	1		1	ZNF275	23	152612686	Silent	SNP	C	TCGA-BR-6852-01A-11D-1882-08	593851	152612686	2657874	1369	37725											
BGN	633	broad.mit.edu	37	chrX	152770093	152770093	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggtccatccgccatgTggcccctgtggcgcctcgtg	12	18	0	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:152770093T>C	uc004fhr.1	+	2	176	c.4T>C	c.(4-6)TGG>CGG	p.W2R	BGN_uc004fhq.1_RNA	NM_001711	NP_001702	P21810	PGS1_HUMAN	biglycan preproprotein	2						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCCGCCATGTGGCCCCTGTG	0.647													C	152770093	T	C	152770093	3	2	45	1	0	0	0	0	1	0	0	0	1418	1696	59	3	6	3	BGN	23	152770093	Missense_Mutation	SNP	T	TCGA-BR-6852-01A-11D-1882-08	157407	152770093	2500467	1370	37726											
PDZD4	57595	broad.mit.edu	37	chrX	153073995	153073995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggggctccttggaggagCgcagggcctgcagagtttgc	17	11	0	1			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:153073995C>T	uc004fiz.1	-	2	366	c.116G>A	c.(115-117)CGC>CAC	p.R39H	PDZD4_uc004fiy.1_5'UTR|PDZD4_uc004fix.2_5'UTR|PDZD4_uc004fja.1_Missense_Mutation_p.R39H|PDZD4_uc011mze.1_Intron	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	39			R -> C (in a breast cancer sample; somatic mutation).			cell cortex		p.R39C(1)		breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTGGAGGAGCGCAGGGCCTG	0.642													T	153073995	C	T	153073995	3	4	45	1	0	0	0	0	1	0	0	0	11703	768	27	1	2221	1	PDZD4	23	153073995	Missense_Mutation	SNP	C	TCGA-BR-6852-01A-11D-1882-08	303902	153073995	2196565	1371	37727											
ARHGAP4	393	broad.mit.edu	37	chrX	153174968	153174968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagtctgcagccctgcGcccaccacctgcttctccgt	8	20	2	0	rs61749033	byFrequency	TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:153174968G>A	uc004fjk.1	-	20	2478	c.2436C>T	c.(2434-2436)GGC>GGT	p.G812G	ARHGAP4_uc004fjj.1_Silent_p.G163G|ARHGAP4_uc011mzf.1_Silent_p.G789G|ARHGAP4_uc004fjl.1_Silent_p.G852G|ARHGAP4_uc010nup.1_RNA	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2	812					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCCCTGCGCCCACCACCT	0.577													A	153174968	G	A	153174968	2	1	45	1	0	0	0	0	0	0	0	1	885	1074	38	1		1	ARHGAP4	23	153174968	Silent	SNP	G	TCGA-BR-6852-01A-11D-1882-08	100973	153174968	2095592	1372	37728											
MECP2	4204	broad.mit.edu	37	chrX	153296569	153296570	+	Frame_Shift_Ins	INS	-	-	C													ggtggatgtggtggccccacINSccccctcagccttgccccct					rs62846063		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:153296568_153296569A>AC	uc004fjv.2	-	3	936_937	c.710_711T>GT	c.(709-711)ggtfs	p.G237fs	MECP2_uc004fjw.2_Frame_Shift_Ins_p.G249fs	NM_004992	NP_004983	P51608	MECP2_HUMAN	Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 1, mRNA.	237					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein N-terminus binding|protein domain specific binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGTGGCCCCACCCCCCTCAGC	0.594													C	153296570	-	C	153296569	7	5	45	1	0	1	1	0	0	0	0	0	9423	507	18	0	754	0	MECP2	23	153296569	Frame_Shift_Ins	INS	-	TCGA-BR-6852-01A-11D-1882-08	121601	153296569	1973991	1373	37729											
FLNA	2316	broad.mit.edu	37	chrX	153596212	153596212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctctgcgccccctcacccGgggcacagctgtccaccagg	11	20	2	0	rs28935469		TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:153596212G>A	uc004fkk.2	-	3	869	c.620C>T	c.(619-621)CCG>CTG	p.P207L	FLNA_uc010nuu.1_Missense_Mutation_p.P207L	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	207	CH 2.|Actin-binding.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCCTCACCCGGGGCACAGCT	0.706													A	153596212	G	A	153596212	3	1	45	1	0	0	0	0	1	0	0	0	5933	1116	39	1	7507	1	FLNA	23	153596212	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	299643	153596212	1674348	1374	37730											
TAZ	6901	broad.mit.edu	37	chrX	153640245	153640245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctggaccctggccagcaGcgtcgtcatgggcttggtgg	15	13	1	0			TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:153640245G>A	uc004fkx.2	+	1	369	c.65G>A	c.(64-66)AGC>AAC	p.S22N	DNASE1L1_uc004fks.1_5'Flank|DNASE1L1_uc004fkt.1_5'Flank|DNASE1L1_uc004fku.1_5'UTR|DNASE1L1_uc004fkv.1_5'UTR|DNASE1L1_uc004fkw.1_5'UTR|TAZ_uc004fky.2_Missense_Mutation_p.S22N|TAZ_uc004fkz.2_RNA|TAZ_uc004fla.2_Missense_Mutation_p.S22N|TAZ_uc004flb.2_Missense_Mutation_p.S22N|TAZ_uc010nuy.2_Missense_Mutation_p.S22N|TAZ_uc004flc.3_Missense_Mutation_p.S22N	NM_000116	NP_000107	Q16635	TAZ_HUMAN	tafazzin isoform 1	22	Helical; Signal-anchor; (Potential).				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGGCCAGCAGCGTCGTCATG	0.602													A	153640245	G	A	153640245	3	1	45	1	0	0	0	0	1	0	0	0	15593	971	34	2	67	2	TAZ	23	153640245	Missense_Mutation	SNP	G	TCGA-BR-6852-01A-11D-1882-08	44033	153640245	1630315	1375	37731											
FUNDC2	65991	broad.mit.edu	37	chrX	154274835	154274835	+	Frame_Shift_Del	DEL	G	G	-													aagttggctgcaacagctgtGggaggtggattttttctcct							TCGA-BR-6852-01A-11D-1882-08	TCGA-BR-6852-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f6202ce-fb91-4f83-9730-d202b75ea0ec	a2afd338-d1be-4d45-9492-fb7ddf655adb	g.chrX:154274834_154274834TG>T	uc004fmw.3	+	2	485	c.335_335TG>T	c.(334-336)gtgfs	p.V112fs		NM_023934	NP_076423	Q9BWH2	FUND2_HUMAN	Homo sapiens FUN14 domain containing 2 (FUNDC2), mRNA.	112						mitochondrion				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCAACAGCTGTGGGAGGTGGA	0.423													-	154274835	G	-	154274835	7	5	45	1	0	1	0	1	0	0	0	0	6098	1335	47	0	346	0	FUNDC2	23	154274835	Frame_Shift_Del	DEL	G	TCGA-BR-6852-01A-11D-1882-08	634590	154274835	995725	1376	37732											
TAS1R3	83756	broad.mit.edu	37	chr1	1268156	1268156	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcaacgcctcaggctgCcccgcgcaggaccccgtgaa	12	17	1	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr1:1268156C>T	uc010nyk.1	+	3	1245	c.1245C>T	c.(1243-1245)TGC>TGT	p.C415C		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	415	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	CCTCAGGCTGCCCCGCGCAGG	0.657													T	1268156	C	T	1268156	2	4	46	1	0	0	0	0	0	0	0	1	15561	747	26	2		2	TAS1R3	1	1268156	Silent	SNP	C	TCGA-BR-7196-01A-11D-2053-08		1268156	247982465	1	37733											
PLEKHM2	23207	broad.mit.edu	37	chr1	16059105	16059105	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgggggcctggctctccctAggagttctcccaggacagcc	13	16	2	0			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr1:16059105A>C	uc010obo.1	+	19	3033	c.2806_splice	c.e19-2	p.E936_splice		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M						Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GGCTCTCCCTAGGAGTTCTCC	0.622													C	16059105	A	C	16059105	5	2	46	1	0	0	0	0	0	0	1	0	12081	434	15	5	2878	5	PLEKHM2	1	16059105	Splice_Site	SNP	A	TCGA-BR-7196-01A-11D-2053-08	14790949	16059105	233191516	2	37734											
USP48	84196	broad.mit.edu	37	chr1	22030758	22030758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatatgaaaacttactggGctcagaaatatactgtgttt	8	6	1	2			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr1:22030758G>A	uc001bfb.2	-	20	2750	c.2512C>T	c.(2512-2514)CCC>TCC	p.P838S	USP48_uc001bfa.2_Missense_Mutation_p.P376S|USP48_uc010odq.1_Missense_Mutation_p.P850S|USP48_uc009vqc.2_Missense_Mutation_p.P772S|USP48_uc001bfc.2_Missense_Mutation_p.P838S|USP48_uc001bfd.1_5'UTR	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	838					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		AACTTACTGGGCTCAGAAATA	0.353													A	22030758	G	A	22030758	3	1	46	1	0	0	0	0	1	0	0	0	17076	1203	42	2	627	2	USP48	1	22030758	Missense_Mutation	SNP	G	TCGA-BR-7196-01A-11D-2053-08	5971653	22030758	227219863	3	37735											
ARID1A	8289	broad.mit.edu	37	chr1	27097694	27097694	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccagctccttgaaaaagCagtatatccagtgtctctat	7	11	1	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr1:27097694C>T	uc001bmv.1	+	12	3656	c.3283C>T	c.(3283-3285)CAG>TAG	p.Q1095*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1095*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1095*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q712*|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1095	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTTGAAAAAGCAGTATATCCA	0.483			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								T	27097694	C	T	27097694	4	4	46	1	0	0	0	0	0	1	0	0	913	711	25	2	3329	2	ARID1A	1	27097694	Nonsense_Mutation	SNP	C	TCGA-BR-7196-01A-11D-2053-08	5066936	27097694	222152927	4	37736											
LRRC7	57554	broad.mit.edu	37	chr1	70503977	70503977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgctgaggaaaccacaGccgagaatgccaacagtaat	10	9	0	2			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr1:70503977G>A	uc001dep.2	+	19	2386	c.2356G>A	c.(2356-2358)GCC>ACC	p.A786T	LRRC7_uc009wbg.2_Missense_Mutation_p.A70T|LRRC7_uc001deq.2_Missense_Mutation_p.A27T	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	786						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						GGAAACCACAGCCGAGAATGC	0.493													A	70503977	G	A	70503977	3	1	46	1	0	0	0	0	1	0	0	0	9020	971	34	2	2430	2	LRRC7	1	70503977	Missense_Mutation	SNP	G	TCGA-BR-7196-01A-11D-2053-08	43406283	70503977	178746644	5	37737											
EXO1	9156	broad.mit.edu	37	chr1	242045261	242045261	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acttgacagtcaaagtgaccAgacctccaagctacgtttat	7	11	1	3			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr1:242045261A>T	uc001hzh.2	+	14	2693	c.2153A>T	c.(2152-2154)CAG>CTG	p.Q718L	EXO1_uc001hzi.2_Missense_Mutation_p.Q718L|EXO1_uc001hzj.2_Missense_Mutation_p.Q718L|EXO1_uc009xgq.2_Missense_Mutation_p.Q717L	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	718	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CAAAGTGACCAGACCTCCAAG	0.294								Direct_reversal_of_damage|Editing_and_processing_nucleases					T	242045261	A	T	242045261	3	4	46	1	0	0	0	0	1	0	0	0	5300	188	7	5	2195	5	EXO1	1	242045261	Missense_Mutation	SNP	A	TCGA-BR-7196-01A-11D-2053-08	171541284	242045261	7205360	6	37738											
C2orf86	51057	broad.mit.edu	37	chr2	63631623	63631623	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgactttagtggtattctgGtgactgacacacactggatt	10	7	1	3			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr2:63631623G>C	uc002sch.2	-	10	1441	c.995C>G	c.(994-996)ACC>AGC	p.T332S	C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.T173S|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.T140S|C2orf86_uc002sci.1_Missense_Mutation_p.T308S|C2orf86_uc010fcr.1_Missense_Mutation_p.T222S	NM_015910	NP_056994	O95876	FRITZ_HUMAN	hypothetical protein LOC51057 isoform 2	332	WD 1.				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane					0						TGGTATTCTGGTGACTGACAC	0.443													C	63631623	G	C	63631623	3	2	46	1	0	0	0	0	1	0	0	0	2201	1261	44	5	1281	5	C2orf86	2	63631623	Missense_Mutation	SNP	G	TCGA-BR-7196-01A-11D-2053-08		63631623	179567750	7	37739											
TUBA3E	112714	broad.mit.edu	37	chr2	130951688	130951688	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcagggccccatcaaatcGcagggaggccgtgatggagg	15	10	2	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr2:130951688G>A	uc002tqv.2	-	4	828	c.727C>T	c.(727-729)CGA>TGA	p.R243*		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	243					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1	Colorectal(110;0.1)					CCATCAAATCGCAGGGAGGCC	0.582													A	130951688	G	A	130951688	4	1	46	1	0	0	0	0	0	1	0	0	16745	1095	38	1	633	1	TUBA3E	2	130951688	Nonsense_Mutation	SNP	G	TCGA-BR-7196-01A-11D-2053-08	67320065	130951688	112247685	8	37740											
FAM123C	205147	broad.mit.edu	37	chr2	131520836	131520836	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttctcgccaggacttgaggaGgacaagaaggaagctgagag	15	7	1	3			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr2:131520836G>C	uc002trw.2	+	2	1381	c.1191G>C	c.(1189-1191)GAG>GAC	p.E397D	FAM123C_uc010fmv.2_Missense_Mutation_p.E397D|FAM123C_uc010fms.1_Missense_Mutation_p.E397D|FAM123C_uc010fmt.1_Missense_Mutation_p.E397D|FAM123C_uc010fmu.1_Missense_Mutation_p.E397D	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	397										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GACTTGAGGAGGACAAGAAGG	0.622													C	131520836	G	C	131520836	3	2	46	1	0	0	0	0	1	0	0	0	5424	991	35	5	1193	5	FAM123C	2	131520836	Missense_Mutation	SNP	G	TCGA-BR-7196-01A-11D-2053-08	569148	131520836	111678537	9	37741											
RAPGEF4	11069	broad.mit.edu	37	chr2	173898667	173898667	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccaagcaagttcaagaagtTctatgcggagtttgaaagtt	11	6	2	2			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr2:173898667T>A	uc002uhv.3	+	27	2862	c.2675T>A	c.(2674-2676)TTC>TAC	p.F892Y	RAPGEF4_uc002uhw.3_Missense_Mutation_p.F748Y	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	892	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TTCAAGAAGTTCTATGCGGAG	0.348													A	173898667	T	A	173898667	3	1	46	1	0	0	0	0	1	0	0	0	13046	1783	62	5	2797	5	RAPGEF4	2	173898667	Missense_Mutation	SNP	T	TCGA-BR-7196-01A-11D-2053-08	42377831	173898667	69300706	10	37742											
VWC2L	402117	broad.mit.edu	37	chr2	215278974	215278974	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttggtcatccctggattggtCacctctgctgctatcagtca	9	12	5	0			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr2:215278974C>T	uc002vet.2	+	2	187	c.57C>T	c.(55-57)GTC>GTT	p.V19V	VWC2L_uc010zjl.1_Silent_p.V19V	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain-containing	19						extracellular region					0						CTGGATTGGTCACCTCTGCTG	0.433													T	215278974	C	T	215278974	2	4	46	1	0	0	0	0	0	0	0	1	17241	813	29	4		4	VWC2L	2	215278974	Silent	SNP	C	TCGA-BR-7196-01A-11D-2053-08	41380307	215278974	27920399	11	37743											
ARPC2	10109	broad.mit.edu	37	chr2	219110154	219110154	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttggcaggagttcaaagaAggacgcagagccagccacac	12	11	2	2			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr2:219110154A>G	uc002vhd.2	+	8	673	c.561A>G	c.(559-561)GAA>GAG	p.E187E	ARPC2_uc002vhe.2_Silent_p.E187E|ARPC2_uc002vhf.2_Silent_p.E73E	NM_152862	NP_690601	O15144	ARPC2_HUMAN	actin related protein 2/3 complex subunit 2	187					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		AGTTCAAAGAAGGACGCAGAG	0.517													G	219110154	A	G	219110154	2	3	46	1	0	0	0	0	0	0	0	1	971	69	3	3		3	ARPC2	2	219110154	Silent	SNP	A	TCGA-BR-7196-01A-11D-2053-08	3831180	219110154	24089219	12	37744											
MYRIP	25924	broad.mit.edu	37	chr3	40251427	40251427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacaccacagaggagaaacGgagaaacaggctgtacgagt	13	8	0	4			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr3:40251427G>A	uc003cka.2	+	11	1883	c.1748G>A	c.(1747-1749)CGG>CAG	p.R583Q	MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Missense_Mutation_p.R583Q|MYRIP_uc010hhw.2_Missense_Mutation_p.R494Q|MYRIP_uc011ayz.1_Missense_Mutation_p.R396Q|uc003ckb.2_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	583	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GAGGAGAAACGGAGAAACAGG	0.478													A	40251427	G	A	40251427	3	1	46	1	0	0	0	0	1	0	0	0	10100	1116	39	1	1786	1	MYRIP	3	40251427	Missense_Mutation	SNP	G	TCGA-BR-7196-01A-11D-2053-08		40251427	157771003	13	37745											
ZPLD1	131368	broad.mit.edu	37	chr3	102171950	102171950	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcatttttatcatcaatctCagcaccttggagggctgtgg	10	9	4	0			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr3:102171950C>A	uc003dvs.1	+	10	1176	c.294C>A	c.(292-294)CTC>CTA	p.L98L	ZPLD1_uc003dvt.1_Silent_p.L114L|ZPLD1_uc011bhg.1_Silent_p.L98L	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	98	ZP.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(2)|central_nervous_system(1)	5						TCATCAATCTCAGCACCTTGG	0.448													A	102171950	C	A	102171950	2	1	46	1	0	0	0	0	0	0	0	1	18218	813	29	5		5	ZPLD1	3	102171950	Silent	SNP	C	TCGA-BR-7196-01A-11D-2053-08	61920523	102171950	95850480	14	37746											
MYLK	4638	broad.mit.edu	37	chr3	123419688	123419688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctgcctcgtctccacgCgcctcttcagcacccctcgc	8	20	3	0			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr3:123419688C>T	uc003ego.2	-	18	2909	c.2627G>A	c.(2626-2628)CGC>CAC	p.R876H	MYLK_uc011bjw.1_Missense_Mutation_p.R876H|MYLK_uc003egp.2_Missense_Mutation_p.R807H|MYLK_uc003egq.2_Missense_Mutation_p.R876H|MYLK_uc003egr.2_Missense_Mutation_p.R807H|MYLK_uc003egs.2_Missense_Mutation_p.R700H|MYLK_uc003egt.2_Missense_Mutation_p.R67H	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	876	5 X 28 AA approximate tandem repeats.|1-1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CGTCTCCACGCGCCTCTTCAG	0.642													T	123419688	C	T	123419688	3	4	46	1	0	0	0	0	1	0	0	0	10056	768	27	1	3185	1	MYLK	3	123419688	Missense_Mutation	SNP	C	TCGA-BR-7196-01A-11D-2053-08	21247738	123419688	74602742	15	37747											
PIK3CA	5290	broad.mit.edu	37	chr3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtgcaacctacgtgaaTgtaaatattcgagacattga	8	7	0	3	rs121913284		TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr3:178921553T>A	uc003fjk.2	+	5	1192	c.1035T>A	c.(1033-1035)AAT>AAA	p.N345K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	345					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N345K(29)|p.N345I(2)|p.N345S(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCTACGTGAATGTAAATATTC	0.308		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178921553	T	A	178921553	3	1	46	1	0	0	0	0	1	0	0	0	11913	1461	51	5	1049	5	PIK3CA	3	178921553	Missense_Mutation	SNP	T	TCGA-BR-7196-01A-11D-2053-08	55501865	178921553	19100877	16	37748											
LEPREL1	55214	broad.mit.edu	37	chr3	189690711	189690711	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtataggaaaaatacagagTtgagttcagcataaaataag	9	3	1	2			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr3:189690711T>G	uc011bsk.1	-	11	2039	c.1651A>C	c.(1651-1653)ACT>CCT	p.T551P	LEPREL1_uc003fsg.2_Missense_Mutation_p.T370P	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	551					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AAATACAGAGTTGAGTTCAGC	0.433													G	189690711	T	G	189690711	3	3	46	1	0	0	0	0	1	0	0	0	8730	1725	60	5	495	5	LEPREL1	3	189690711	Missense_Mutation	SNP	T	TCGA-BR-7196-01A-11D-2053-08	10769158	189690711	8331719	17	37749											
BDH1	622	broad.mit.edu	37	chr3	197238850	197238850	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagtagtagtccatgggGtggtagcgggtgtagggggt	19	6	0	0			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr3:197238850G>A	uc003fxr.2	-	8	1350	c.948C>T	c.(946-948)CAC>CAT	p.H316H	BDH1_uc003fxs.2_Silent_p.H316H|BDH1_uc003fxt.2_Silent_p.H229H|BDH1_uc003fxu.2_Silent_p.H316H	NM_203314	NP_976059	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	316					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			ovary(1)	1	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	AGTCCATGGGGTGGTAGCGGG	0.592													A	197238850	G	A	197238850	2	1	46	1	0	0	0	0	0	0	0	1	1390	1252	44	4		4	BDH1	3	197238850	Silent	SNP	G	TCGA-BR-7196-01A-11D-2053-08	7548139	197238850	783580	18	37750											
GABRA2	2555	broad.mit.edu	37	chr4	46264078	46264078	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtccatggcagttgcataAgccactttggggagagaatt	12	8	0	1	rs35058221	byFrequency	TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr4:46264078A>G	uc003gxc.3	-	8	1597	c.924T>C	c.(922-924)GCT>GCC	p.A308A	GABRA2_uc010igc.2_Silent_p.A308A|GABRA2_uc011bzc.1_Silent_p.A253A|GABRA2_uc003gxe.2_Silent_p.A308A	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	308					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAGTTGCATAAGCCACTTTGG	0.393													G	46264078	A	G	46264078	2	3	46	1	0	0	0	0	0	0	0	1	6161	59	3	3		3	GABRA2	4	46264078	Silent	SNP	A	TCGA-BR-7196-01A-11D-2053-08		46264078	144890198	19	37751											
PPAT	5471	broad.mit.edu	37	chr4	57301585	57301585	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gctgcgtgggccactctcctGaggcgatgcacccgaacacg	13	15	1	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr4:57301585G>C	uc003hbr.2	-	1	261	c.59C>G	c.(58-60)TCA>TGA	p.S20*	PAICS_uc003hbs.1_5'Flank|PAICS_uc011cac.1_5'Flank|PAICS_uc003hbt.1_5'Flank|PAICS_uc003hbu.1_5'Flank|PAICS_uc010ihd.1_5'Flank	NM_002703	NP_002694	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	20	Glutamine amidotransferase type-2.				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	CCACTCTCCTGAGGCGATGCA	0.662													C	57301585	G	C	57301585	4	2	46	1	0	0	0	0	0	1	0	0	12302	1294	45	5	1538	5	PPAT	4	57301585	Nonsense_Mutation	SNP	G	TCGA-BR-7196-01A-11D-2053-08	11037507	57301585	133852691	20	37752											
TRPC3	7222	broad.mit.edu	37	chr4	122801003	122801003	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaagttcataacgaaggctgGagatatcttgcttgatttct	9	6	3	2			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr4:122801003G>T	uc003ieg.2	-	12	2728	c.2654C>A	c.(2653-2655)TCC>TAC	p.S885Y	TRPC3_uc010inr.2_Missense_Mutation_p.S757Y|TRPC3_uc003ief.2_Missense_Mutation_p.S812Y|TRPC3_uc011cgl.1_Missense_Mutation_p.S549Y	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	800	Extracellular (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						ACGAAGGCTGGAGATATCTTG	0.333													T	122801003	G	T	122801003	3	4	46	1	0	0	0	0	1	0	0	0	16576	1174	41	5	115	5	TRPC3	4	122801003	Missense_Mutation	SNP	G	TCGA-BR-7196-01A-11D-2053-08	65499418	122801003	68353273	21	37753											
LRBA	987	broad.mit.edu	37	chr4	151836804	151836804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatctctccataggaagccaGctcaccattcacataacatc	4	14	3	0			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr4:151836804G>A	uc010ipj.2	-	8	1444	c.970C>T	c.(970-972)CTG>TTG	p.L324L	LRBA_uc003ilu.3_Silent_p.L324L|LRBA_uc010ipk.1_Silent_p.L243L	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	324						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					TAGGAAGCCAGCTCACCATTC	0.353													A	151836804	G	A	151836804	2	1	46	1	0	0	0	0	0	0	0	1	8931	962	34	2		2	LRBA	4	151836804	Silent	SNP	G	TCGA-BR-7196-01A-11D-2053-08	29035801	151836804	39317472	22	37754											
PLRG1	5356	broad.mit.edu	37	chr4	155461124	155461124	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtaataatttgtggttctgCagcctgacatctcactgtag	9	8	2	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr4:155461124C>A	uc003iny.2	-	11	1084	c.1021G>T	c.(1021-1023)GCA>TCA	p.A341S	PLRG1_uc003inz.2_Missense_Mutation_p.A332S	NM_002669	NP_002660	O43660	PLRG1_HUMAN	pleiotropic regulator 1 (PRL1 homolog,	341	WD 4.					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity				0	all_hematologic(180;0.215)	Renal(120;0.0854)				TGTGGTTCTGCAGCCTGACAT	0.333													A	155461124	C	A	155461124	3	1	46	1	0	0	0	0	1	0	0	0	12106	710	25	5	543	5	PLRG1	4	155461124	Missense_Mutation	SNP	C	TCGA-BR-7196-01A-11D-2053-08	3624320	155461124	35693152	23	37755											
GUCY1A3	2982	broad.mit.edu	37	chr4	156638314	156638314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaatatattatgtctaggtgGagaccattggcgatgcctat	10	6	1	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr4:156638314G>A	uc003iov.2	+	9	2112	c.1576G>A	c.(1576-1578)GAG>AAG	p.E526K	GUCY1A3_uc010iqc.2_Missense_Mutation_p.E526K|GUCY1A3_uc003iow.2_Missense_Mutation_p.E526K|GUCY1A3_uc010iqd.2_Missense_Mutation_p.E525K|GUCY1A3_uc003iox.2_Missense_Mutation_p.E526K|GUCY1A3_uc003ioz.2_Missense_Mutation_p.E291K|GUCY1A3_uc003ioy.2_Missense_Mutation_p.E526K|GUCY1A3_uc010iqe.2_Missense_Mutation_p.E291K|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.E526K	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	526	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TGTCTAGGTGGAGACCATTGG	0.408													A	156638314	G	A	156638314	3	1	46	1	0	0	0	0	1	0	0	0	6894	1175	41	4	1613	4	GUCY1A3	4	156638314	Missense_Mutation	SNP	G	TCGA-BR-7196-01A-11D-2053-08	1177190	156638314	34515962	24	37756											
TRIML2	205860	broad.mit.edu	37	chr4	189012674	189012674	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaaattgtaaatgagggaCatctcggtcacattgtagaa	11	5	2	3			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr4:189012674C>A	uc003izl.2	-	7	1053	c.1017G>T	c.(1015-1017)ATG>ATT	p.M339I	TRIML2_uc003izj.1_Missense_Mutation_p.M167I|TRIML2_uc003izk.1_Missense_Mutation_p.M147I|TRIML2_uc011cle.1_Missense_Mutation_p.M414I	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	339	B30.2/SPRY.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AAATGAGGGACATCTCGGTCA	0.493													A	189012674	C	A	189012674	3	1	46	1	0	0	0	0	1	0	0	0	16548	478	17	5	150	5	TRIML2	4	189012674	Missense_Mutation	SNP	C	TCGA-BR-7196-01A-11D-2053-08	32374360	189012674	2141602	25	37757											
PTGER4	5734	broad.mit.edu	37	chr5	40692250	40692250	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatggccttggaggcaggAatttgcttccaggtgtgcct	13	8	0	0			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr5:40692250A>C	uc003jlz.2	+	3	1829	c.1237A>C	c.(1237-1239)AAT>CAT	p.N413H		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	413	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			lung(2)	2						TGGAGGCAGGAATTTGCTTCC	0.557													C	40692250	A	C	40692250	3	2	46	1	0	0	0	0	1	0	0	0	12745	246	9	5	1243	5	PTGER4	5	40692250	Missense_Mutation	SNP	A	TCGA-BR-7196-01A-11D-2053-08		40692250	140223010	26	37758											
HCN1	348980	broad.mit.edu	37	chr5	45695943	45695943	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtactgccgccggggcccctCggcgtcttcgaagccccccg	13	19	1	0			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr5:45695943C>A	uc003jok.2	-	1	278	c.253G>T	c.(253-255)GAG>TAG	p.E85*		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	85	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						CGGGGCCCCTCGGCGTCTTCG	0.502													A	45695943	C	A	45695943	4	1	46	1	0	0	0	0	0	1	0	0	6996	893	31	5	2451	5	HCN1	5	45695943	Nonsense_Mutation	SNP	C	TCGA-BR-7196-01A-11D-2053-08	5003693	45695943	135219317	27	37759											
IPO11	51194	broad.mit.edu	37	chr5	61857028	61857028	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atggacaacattacccagccTgaaagaagaaaactttcagc	7	10	1	3			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr5:61857028T>A	uc003jtc.2	+	27	2716	c.2526T>A	c.(2524-2526)CCT>CCA	p.P842P	IPO11_uc011cqr.1_Silent_p.P882P|IPO11_uc003jtd.1_RNA|IPO11_uc010iwr.2_Silent_p.P107P	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2	842	HEAT 13.					cytoplasm|nucleus	protein binding			lung(2)|skin(2)	4		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TTACCCAGCCTGAAAGAAGAA	0.383													A	61857028	T	A	61857028	2	1	46	1	0	0	0	0	0	0	0	1	7793	1567	55	5		5	IPO11	5	61857028	Silent	SNP	T	TCGA-BR-7196-01A-11D-2053-08	16161085	61857028	119058232	28	37760											
TTBK1	84630	broad.mit.edu	37	chr6	43251528	43251528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaaactcactgcccaatgGcccggcccttgcagacgggc	10	17	1	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr6:43251528G>A	uc003ouq.1	+	14	3329	c.3050G>A	c.(3049-3051)GGC>GAC	p.G1017D		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1017						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CTGCCCAATGGCCCGGCCCTT	0.667													A	43251528	G	A	43251528	3	1	46	1	0	0	0	0	1	0	0	0	16673	1203	42	2	3100	2	TTBK1	6	43251528	Missense_Mutation	SNP	G	TCGA-BR-7196-01A-11D-2053-08		43251528	127863539	29	37761											
LRRC1	55227	broad.mit.edu	37	chr6	53785539	53785539	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatttgtggaggatgagaaaGatgaagaagacaatgagacg	15	2	0	6			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr6:53785539G>A	uc003pcd.1	+	13	1673	c.1396G>A	c.(1396-1398)GAT>AAT	p.D466N		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	466						cytoplasm|membrane				ovary(1)	1	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GGATGAGAAAGATGAAGAAGA	0.418													A	53785539	G	A	53785539	3	1	46	1	0	0	0	0	1	0	0	0	8966	942	33	4	1446	4	LRRC1	6	53785539	Missense_Mutation	SNP	G	TCGA-BR-7196-01A-11D-2053-08	10534011	53785539	117329528	30	37762											
PRDM1	639	broad.mit.edu	37	chr6	106553508	106553508	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaggtgcttgtcccggcGccccacagtgccttctcctt	12	15	1	0			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr6:106553508G>A	uc003prd.2	+	5	1707	c.1473G>A	c.(1471-1473)GCG>GCA	p.A491A	PRDM1_uc003pre.2_Silent_p.A357A	NM_001198	NP_001189	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain isoform	491					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TTGTCCCGGCGCCCCACAGTG	0.682			D|N|Mis|F|S		DLBCL								A	106553508	G	A	106553508	2	1	46	1	0	0	0	0	0	0	0	1	12450	1074	38	1		1	PRDM1	6	106553508	Silent	SNP	G	TCGA-BR-7196-01A-11D-2053-08	52767969	106553508	64561559	31	37763											
ROS1	6098	broad.mit.edu	37	chr6	117641088	117641088	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatgtccactgctgttccTtcatacacttctccaaaggc	6	13	2	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr6:117641088T>C	uc003pxp.1	-	36	6082	c.5883A>G	c.(5881-5883)GAA>GAG	p.E1961E	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Silent_p.E287E	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1961	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTGCTGTTCCTTCATACACTT	0.448			T	GOPC|ROS1	glioblastoma|NSCLC								C	117641088	T	C	117641088	2	2	46	1	0	0	0	0	0	0	0	1	13531	1606	56	3		3	ROS1	6	117641088	Silent	SNP	T	TCGA-BR-7196-01A-11D-2053-08	11087580	117641088	53473979	32	37764											
ESR1	2099	broad.mit.edu	37	chr6	152420094	152420094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagagggtttccctgccaCggtctgagagctccctggct	14	13	1	2	rs138891155	byFrequency	TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr6:152420094C>T	uc003qom.3	+	10	2151	c.1781C>T	c.(1780-1782)ACG>ATG	p.T594M	ESR1_uc010kin.2_Missense_Mutation_p.T594M|ESR1_uc010kio.2_Missense_Mutation_p.T596M|ESR1_uc010kip.2_Missense_Mutation_p.T593M|ESR1_uc003qon.3_Missense_Mutation_p.T594M|ESR1_uc003qoo.3_Missense_Mutation_p.T594M|ESR1_uc010kiq.2_Missense_Mutation_p.T192M|ESR1_uc010kir.2_Missense_Mutation_p.T333M|ESR1_uc011eet.1_RNA|ESR1_uc011eeu.1_RNA|ESR1_uc011eev.1_Missense_Mutation_p.T179M|ESR1_uc011eew.1_3'UTR|ESR1_uc011eex.1_Missense_Mutation_p.T269M|ESR1_uc011eey.1_3'UTR	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	estrogen receptor alpha isoform 4	594	Interaction with AKAP13.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	TTCCCTGCCACGGTCTGAGAG	0.537													T	152420094	C	T	152420094	3	4	46	1	0	0	0	0	1	0	0	0	5256	536	19	1	1811	1	ESR1	6	152420094	Missense_Mutation	SNP	C	TCGA-BR-7196-01A-11D-2053-08	34779006	152420094	18694973	33	37765											
FNDC1	84624	broad.mit.edu	37	chr6	159636057	159636057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgttgcgtggaaggcaccaCgcctgtctggagccaagagt	14	12	1	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr6:159636057C>T	uc010kjv.2	+	5	741	c.541C>T	c.(541-543)CGC>TGC	p.R181C	FNDC1_uc010kjw.1_Missense_Mutation_p.R129C	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	181	Fibronectin type-III 2.					extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAAGGCACCACGCCTGTCTGG	0.562													T	159636057	C	T	159636057	3	4	46	1	0	0	0	0	1	0	0	0	5968	536	19	1	559	1	FNDC1	6	159636057	Missense_Mutation	SNP	C	TCGA-BR-7196-01A-11D-2053-08	7215963	159636057	11479010	34	37766											
ZMIZ2	83637	broad.mit.edu	37	chr7	44797586	44797586	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcccccttggctatgaaccCcacccgggcagcaggaatga	10	16	0	2			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr7:44797586C>G	uc003tlr.2	+	6	815	c.692C>G	c.(691-693)CCC>CGC	p.P231R	ZMIZ2_uc003tlq.2_Missense_Mutation_p.P199R|ZMIZ2_uc003tls.2_Missense_Mutation_p.P231R|ZMIZ2_uc003tlt.2_5'Flank|ZMIZ2_uc010kyj.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	231	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						GCTATGAACCCCACCCGGGCA	0.667													G	44797586	C	G	44797586	3	3	46	1	0	0	0	0	1	0	0	0	17694	623	22	5	710	5	ZMIZ2	7	44797586	Missense_Mutation	SNP	C	TCGA-BR-7196-01A-11D-2053-08		44797586	114341077	35	37767											
OR2F2	135948	broad.mit.edu	37	chr7	143632812	143632812	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgtgcagactgctatcAcctttcagctgcccatgtgc	8	14	3	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr7:143632812A>C	uc011ktv.1	+	1	487	c.487A>C	c.(487-489)ACC>CCC	p.T163P		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F,	163	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	Melanoma(164;0.0903)					GACTGCTATCACCTTTCAGCT	0.522													C	143632812	A	C	143632812	3	2	46	1	0	0	0	0	1	0	0	0	10997	159	6	5	489	5	OR2F2	7	143632812	Missense_Mutation	SNP	A	TCGA-BR-7196-01A-11D-2053-08	98835226	143632812	15505851	36	37768											
MYC	4609	broad.mit.edu	37	chr8	128753034	128753034	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtgaccagatcccggagTtggaaaacaatgaaaaggcc	12	9	0	3			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr8:128753034T>G	uc003ysi.2	+	3	1720	c.1195T>G	c.(1195-1197)TTG>GTG	p.L399V		NM_002467	NP_002458	P01106	MYC_HUMAN	myc proto-oncogene protein	384	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		GATCCCGGAGTTGGAAAACAA	0.498		3	A|T	IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@	Burkitt lymphoma| amplified in other cancers|B-CLL								G	128753034	T	G	128753034	3	3	46	1	0	0	0	0	1	0	0	0	10016	1722	60	5	1205	5	MYC	8	128753034	Missense_Mutation	SNP	T	TCGA-BR-7196-01A-11D-2053-08		128753034	17610988	37	37769											
C9orf93	203238	broad.mit.edu	37	chr9	15920398	15920398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcacacagcttgtttacGtgaaaatgcaagtttacaat	6	8	1	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr9:15920398G>A	uc003zmd.2	+	25	4046	c.3731G>A	c.(3730-3732)CGT>CAT	p.R1244H	C9orf93_uc003zme.2_Missense_Mutation_p.R1159H|C9orf93_uc011lmu.1_Missense_Mutation_p.R1252H	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	1244											0				GBM - Glioblastoma multiforme(50;4.84e-07)		GCTTGTTTACGTGAAAATGCA	0.328													A	15920398	G	A	15920398	3	1	46	1	0	0	0	0	1	0	0	0	2506	1145	40	1	3825	1	C9orf93	9	15920398	Missense_Mutation	SNP	G	TCGA-BR-7196-01A-11D-2053-08		15920398	125293033	38	37770											
PPP6C	5537	broad.mit.edu	37	chr9	127920613	127920613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttagcctttaatgcaagaaGgtaagtgaaggtctccaaac	9	7	1	2			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr9:127920613G>A	uc004bpg.3	-	4	507	c.286C>T	c.(286-288)CTT>TTT	p.L96F	PPP6C_uc010mwv.2_Missense_Mutation_p.L133F|PPP6C_uc010mww.2_Missense_Mutation_p.L74F|PPP6C_uc011lzr.1_Intron	NM_002721	NP_002712	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit isoform	96					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			ovary(1)|skin(1)	2						AATGCAAGAAGGTAAGTGAAG	0.358													A	127920613	G	A	127920613	3	1	46	1	0	0	0	0	1	0	0	0	12407	1000	35	4	647	4	PPP6C	9	127920613	Missense_Mutation	SNP	G	TCGA-BR-7196-01A-11D-2053-08	112000215	127920613	13292818	39	37771											
MYO3A	53904	broad.mit.edu	37	chr10	26482184	26482184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagacccccaagacgacccCggaaacccaaaacattaaat	6	14	0	2			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr10:26482184C>T	uc001isn.2	+	32	4849	c.4489C>T	c.(4489-4491)CGG>TGG	p.R1497W	MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1497					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						AAGACGACCCCGGAAACCCAA	0.378													T	26482184	C	T	26482184	3	4	46	1	0	0	0	0	1	0	0	0	10076	643	23	1	4607	1	MYO3A	10	26482184	Missense_Mutation	SNP	C	TCGA-BR-7196-01A-11D-2053-08		26482184	109052563	40	37772											
PANK1	53354	broad.mit.edu	37	chr10	91371722	91371722	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gttctccacttcctcttgctCctcttcggctgtaatatcct	5	15	3	0			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr10:91371722C>A	uc001kgp.1	-	2	943	c.787G>T	c.(787-789)GAG>TAG	p.E263*	PANK1_uc001kgn.1_Nonsense_Mutation_p.E38*|PANK1_uc001kgo.1_Nonsense_Mutation_p.E38*|PANK1_uc009xtu.1_Nonsense_Mutation_p.E65*	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	pantothenate kinase 1 isoform alpha	263					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity				0					Bezafibrate(DB01393)	TCCTCTTGCTCCTCTTCGGCT	0.468													A	91371722	C	A	91371722	4	1	46	1	0	0	0	0	0	1	0	0	11416	864	30	5	1033	5	PANK1	10	91371722	Nonsense_Mutation	SNP	C	TCGA-BR-7196-01A-11D-2053-08	64889538	91371722	44163025	41	37773											
CTNND1	1500	broad.mit.edu	37	chr11	57575682	57575682	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtggttcggatatacatctCacttcttaaggagagcaaga	11	7	2	2			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr11:57575682C>A	uc001nmc.3	+	13	2580	c.2009C>A	c.(2008-2010)TCA>TAA	p.S670*	CTNND1_uc001nlh.1_Nonsense_Mutation_p.S670*|CTNND1_uc001nlu.3_Nonsense_Mutation_p.S563*|CTNND1_uc001nlt.3_Nonsense_Mutation_p.S563*|CTNND1_uc001nls.3_Nonsense_Mutation_p.S563*|CTNND1_uc001nlw.3_Nonsense_Mutation_p.S563*|CTNND1_uc001nmf.3_Nonsense_Mutation_p.S670*|CTNND1_uc001nmd.3_Nonsense_Mutation_p.S616*|CTNND1_uc001nlk.3_Nonsense_Mutation_p.S616*|CTNND1_uc001nme.3_Nonsense_Mutation_p.S664*|CTNND1_uc001nll.3_Nonsense_Mutation_p.S610*|CTNND1_uc001nmg.3_Nonsense_Mutation_p.S610*|CTNND1_uc001nlj.3_Nonsense_Mutation_p.S610*|CTNND1_uc001nlr.3_Nonsense_Mutation_p.S610*|CTNND1_uc001nlp.3_Nonsense_Mutation_p.S610*|CTNND1_uc001nlx.3_Nonsense_Mutation_p.S347*|CTNND1_uc001nlz.3_Nonsense_Mutation_p.S347*|CTNND1_uc009ymn.2_Nonsense_Mutation_p.S341*|CTNND1_uc001nlm.3_Nonsense_Mutation_p.S664*|CTNND1_uc001nly.3_Nonsense_Mutation_p.S341*|CTNND1_uc001nmb.3_Nonsense_Mutation_p.S341*|CTNND1_uc001nma.3_Nonsense_Mutation_p.S341*|CTNND1_uc001nmi.3_Nonsense_Mutation_p.S569*|CTNND1_uc001nmh.3_Nonsense_Mutation_p.S664*|CTNND1_uc001nlq.3_Nonsense_Mutation_p.S569*|CTNND1_uc001nln.3_Nonsense_Mutation_p.S664*|CTNND1_uc001nli.3_Nonsense_Mutation_p.S664*|CTNND1_uc001nlo.3_Nonsense_Mutation_p.S563*|CTNND1_uc001nlv.3_Nonsense_Mutation_p.S563*	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	670	ARM 7.				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)				ATATACATCTCACTTCTTAAG	0.483													A	57575682	C	A	57575682	4	1	46	1	0	0	0	0	0	1	0	0	4019	838	29	5	2051	5	CTNND1	11	57575682	Nonsense_Mutation	SNP	C	TCGA-BR-7196-01A-11D-2053-08		57575682	77430834	42	37774											
SIK3	23387	broad.mit.edu	37	chr11	116798045	116798045	+	Frame_Shift_Del	DEL	A	A	-													cagctgtgacgatctgtttgAacttccgacgtgcctccttt							TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr11:116798044_116798044GA>G	uc001ppy.3	-	3	369	c.333_333TC>C	c.(331-333)ttcfs	p.F111fs	SIK3_uc001ppz.3_Frame_Shift_Del_p.F10fs|SIK3_uc001pqa.3_Frame_Shift_Del_p.F111fs	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	111	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CGATCTGTTTGAACTTCCGAC	0.413													-	116798045	A	-	116798045	7	5	46	1	0	1	0	1	0	0	0	0	14319	246	9	0	3539	0	SIK3	11	116798045	Frame_Shift_Del	DEL	A	TCGA-BR-7196-01A-11D-2053-08	59222363	116798045	18208471	43	37775											
WNK1	65125	broad.mit.edu	37	chr12	939261	939261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgtgcatgcttgagatgGctacatctgaatatccttac	10	8	1	2			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr12:939261G>A	uc001qio.3	+	4	1753	c.1246G>A	c.(1246-1248)GCT>ACT	p.A416T	WNK1_uc001qip.3_Missense_Mutation_p.A416T	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	416	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GCTTGAGATGGCTACATCTGA	0.458													A	939261	G	A	939261	3	1	46	1	0	0	0	0	1	0	0	0	17374	1203	42	2	1260	2	WNK1	12	939261	Missense_Mutation	SNP	G	TCGA-BR-7196-01A-11D-2053-08		939261	132912634	44	37776											
CD163	9332	broad.mit.edu	37	chr12	7651576	7651576	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgcatataagatcatcaaaCcagattggtccagagccttc	7	10	2	3			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr12:7651576C>G	uc001qsz.3	-	4	794	c.666G>C	c.(664-666)TGG>TGC	p.W222C	CD163_uc001qta.3_Missense_Mutation_p.W222C|CD163_uc009zfw.2_Missense_Mutation_p.W222C	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	222	SRCR 2.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						GATCATCAAACCAGATTGGTC	0.428													G	7651576	C	G	7651576	3	3	46	1	0	0	0	0	1	0	0	0	2967	508	18	5	2856	5	CD163	12	7651576	Missense_Mutation	SNP	C	TCGA-BR-7196-01A-11D-2053-08	6712315	7651576	126200319	45	37777											
ADAMTS20	80070	broad.mit.edu	37	chr12	43771289	43771289	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taggccgaagtcgatggagcTtatgtttcttagtagatggg	14	5	1	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr12:43771289T>G	uc010skx.1	-	32	4874	c.4874A>C	c.(4873-4875)AAG>ACG	p.K1625T		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1625	TSP type-1 14.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCGATGGAGCTTATGTTTCTT	0.403													G	43771289	T	G	43771289	3	3	46	1	0	0	0	0	1	0	0	0	266	1609	56	5	889	5	ADAMTS20	12	43771289	Missense_Mutation	SNP	T	TCGA-BR-7196-01A-11D-2053-08	36119713	43771289	90080606	46	37778											
MON2	23041	broad.mit.edu	37	chr12	62943575	62943575	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gctttggcctccataaccaaGaactcaatattagtttaact	5	10	1	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr12:62943575G>C	uc001sre.2	+	23	3272	c.2881G>C	c.(2881-2883)GAA>CAA	p.E961Q	MON2_uc009zqj.2_Missense_Mutation_p.E961Q|MON2_uc010ssl.1_Missense_Mutation_p.E889Q|MON2_uc010ssm.1_Missense_Mutation_p.E938Q|MON2_uc010ssn.1_Missense_Mutation_p.E961Q|MON2_uc001srf.2_Missense_Mutation_p.E724Q	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	962					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CCATAACCAAGAACTCAATAT	0.343													C	62943575	G	C	62943575	3	2	46	1	0	0	0	0	1	0	0	0	9700	943	33	5	2971	5	MON2	12	62943575	Missense_Mutation	SNP	G	TCGA-BR-7196-01A-11D-2053-08	19172286	62943575	70908320	47	37779											
BTBD11	121551	broad.mit.edu	37	chr12	108010928	108010928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggcgaggagaactactcGgaaacacccctccagctggc	11	14	0	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr12:108010928G>A	uc001tmk.1	+	8	2585	c.2064G>A	c.(2062-2064)TCG>TCA	p.S688S	BTBD11_uc009zut.1_Silent_p.S688S|BTBD11_uc001tmj.2_Silent_p.S688S|BTBD11_uc001tml.1_Silent_p.S225S	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	688	ANK 3.					integral to membrane	DNA binding			skin(2)|ovary(1)	3						AGAACTACTCGGAAACACCCC	0.617													A	108010928	G	A	108010928	2	1	46	1	0	0	0	0	0	0	0	1	1539	1103	39	1		1	BTBD11	12	108010928	Silent	SNP	G	TCGA-BR-7196-01A-11D-2053-08	45067353	108010928	25840967	48	37780											
CCDC60	160777	broad.mit.edu	37	chr12	119926657	119926657	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgaagcctgtgatcacCtgctggaacccaaagtatgc	9	12	1	2			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr12:119926657C>T	uc001txe.2	+	5	1008	c.543C>T	c.(541-543)ACC>ACT	p.T181T	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	181										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CTGTGATCACCTGCTGGAACC	0.547													T	119926657	C	T	119926657	2	4	46	1	0	0	0	0	0	0	0	1	2831	668	24	4		4	CCDC60	12	119926657	Silent	SNP	C	TCGA-BR-7196-01A-11D-2053-08	11915729	119926657	13925238	49	37781											
HNF1A	6927	broad.mit.edu	37	chr12	121435302	121435302	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctccacgcaggcacagagTgtgccggtcatcaacagcat	11	14	2	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr12:121435302T>G	uc001tzg.2	+	7	1358	c.1335T>G	c.(1333-1335)AGT>AGG	p.S445R	HNF1A_uc001tzf.2_Missense_Mutation_p.S445R|HNF1A_uc010szn.1_Missense_Mutation_p.S445R	NM_000545	NP_000536	P20823	HNF1A_HUMAN	hepatic nuclear factor-1-alpha	445					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1)	116	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGCACAGAGTGTGCCGGTCA	0.662									Hepatic_Adenoma_Familial_Clustering_of				G	121435302	T	G	121435302	3	3	46	1	0	0	0	0	1	0	0	0	7251	1693	59	5	1361	5	HNF1A	12	121435302	Missense_Mutation	SNP	T	TCGA-BR-7196-01A-11D-2053-08	1508645	121435302	12416593	50	37782											
FRY	10129	broad.mit.edu	37	chr13	32653026	32653026	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccacctgcttctggcacGcacagggagaaagggccgcc	13	14	1	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr13:32653026G>A	uc001utx.2	+	2	622	c.126G>A	c.(124-126)ACG>ACA	p.T42T	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	42					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTTCTGGCACGCACAGGGAGA	0.478													A	32653026	G	A	32653026	2	1	46	1	0	0	0	0	0	0	0	1	6063	1074	38	1		1	FRY	13	32653026	Silent	SNP	G	TCGA-BR-7196-01A-11D-2053-08		32653026	82516852	51	37783											
SLITRK5	26050	broad.mit.edu	37	chr13	88328641	88328641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctttgaagccccctaaggGgactcgccaacccaacaagc	8	17	0	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr13:88328641G>A	uc001vln.2	+	2	1217	c.998G>A	c.(997-999)GGG>GAG	p.G333E	SLITRK5_uc010tic.1_Missense_Mutation_p.G92E	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	333	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCCCCTAAGGGGACTCGCCAA	0.587													A	88328641	G	A	88328641	3	1	46	1	0	0	0	0	1	0	0	0	14746	1232	43	4	1000	4	SLITRK5	13	88328641	Missense_Mutation	SNP	G	TCGA-BR-7196-01A-11D-2053-08	55675615	88328641	26841237	52	37784											
TEP1	7011	broad.mit.edu	37	chr14	20852247	20852247	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtcaccaggctcagccTtccgtggggcagcatcagcc	11	18	3	0			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr14:20852247T>C	uc001vxe.2	-	24	3524	c.3484A>G	c.(3484-3486)AGG>GGG	p.R1162G	TEP1_uc010ahk.2_Missense_Mutation_p.R512G|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.R1054G|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1162	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGGCTCAGCCTTCCGTGGGGC	0.652													C	20852247	T	C	20852247	3	2	46	1	0	0	0	0	1	0	0	0	15756	1608	56	3	4527	3	TEP1	14	20852247	Missense_Mutation	SNP	T	TCGA-BR-7196-01A-11D-2053-08		20852247	86497293	53	37785											
EAPP	55837	broad.mit.edu	37	chr14	34985634	34985640	+	Frame_Shift_Del	DEL	TCTGCCT	TCTGCCT	-													agatttcttccacatctgtcTctgccttctcggcagcatct							TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr14:34985633_34985639CTCTGCCT>C	uc001wsd.1	-	5	844_850	c.735_741AGGCAGAG>G	c.(733-741)aaggcagagfs	p.K245fs		NM_018453	NP_060923	Q56P03	EAPP_HUMAN	Homo sapiens E2F-associated phosphoprotein (EAPP), mRNA.	245					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		CCACATCTGTCTCTGCCTTCTCGGCAG	0.435													-	34985640	TCTGCCT	-	34985634	7	5	46	1	0	1	0	1	0	0	0	0	4877	1551	54	0	121	0	EAPP	14	34985634	Frame_Shift_Del	DEL	TCTGCCT	TCGA-BR-7196-01A-11D-2053-08	14133387	34985634	72363906	54	37786											
CLEC14A	161198	broad.mit.edu	37	chr14	38724436	38724436	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcaaagcctcccaagtcGtctaggcagttagggagctc	12	12	1	0			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr14:38724436G>A	uc001wum.1	-	1	1139	c.792C>T	c.(790-792)GAC>GAT	p.D264D		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	264	Extracellular (Potential).|EGF-like.					integral to membrane	sugar binding			ovary(3)|skin(1)	4	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CTCCCAAGTCGTCTAGGCAGT	0.637													A	38724436	G	A	38724436	2	1	46	1	0	0	0	0	0	0	0	1	3499	1136	40	1		1	CLEC14A	14	38724436	Silent	SNP	G	TCGA-BR-7196-01A-11D-2053-08	3738802	38724436	68625104	55	37787											
HSP90AA1	3320	broad.mit.edu	37	chr14	102551035	102551035	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caccttcactgccaagtgatCttcccagtcattggtcaagc	7	14	4	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr14:102551035C>T	uc001yku.3	-	5	1154	c.964G>A	c.(964-966)GAT>AAT	p.D322N	HSP90AA1_uc001ykv.3_Missense_Mutation_p.D444N|HSP90AA1_uc001ykw.1_Missense_Mutation_p.D143N|HSP90AA1_uc001ykx.1_Missense_Mutation_p.D311N	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	322					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	GCCAAGTGATCTTCCCAGTCA	0.428													T	102551035	C	T	102551035	3	4	46	1	0	0	0	0	1	0	0	0	7401	913	32	4	1262	4	HSP90AA1	14	102551035	Missense_Mutation	SNP	C	TCGA-BR-7196-01A-11D-2053-08	63826599	102551035	4798505	56	37788											
AHNAK2	113146	broad.mit.edu	37	chr14	105415147	105415147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcacgtccacctggccaGcctggaccttcacgtcggcg	11	16	2	0			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr14:105415147G>A	uc010axc.1	-	7	6761	c.6641C>T	c.(6640-6642)GCT>GTT	p.A2214V	AHNAK2_uc001ypx.2_Missense_Mutation_p.A2114V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2214						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)			CACCTGGCCAGCCTGGACCTT	0.637													A	105415147	G	A	105415147	3	1	46	1	0	0	0	0	1	0	0	0	415	971	34	2	10750	2	AHNAK2	14	105415147	Missense_Mutation	SNP	G	TCGA-BR-7196-01A-11D-2053-08	2864112	105415147	1934393	57	37789											
ABCA3	21	broad.mit.edu	37	chr16	2326738	2326738	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggaagacctgttccagCgagatctggctcacggagta	12	11	3	2			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr16:2326738C>T	uc002cpy.1	-	33	5764	c.5052G>A	c.(5050-5052)TCG>TCA	p.S1684S	ABCA3_uc010bsk.1_Silent_p.S1626S	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	1684					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				CCTGTTCCAGCGAGATCTGGC	0.597													T	2326738	C	T	2326738	2	4	46	1	0	0	0	0	0	0	0	1	33	755	27	1		1	ABCA3	16	2326738	Silent	SNP	C	TCGA-BR-7196-01A-11D-2053-08		2326738	88028015	58	37790											
ABCA3	21	broad.mit.edu	37	chr16	2331442	2331442	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtccggactgggggccagGatgcgggtcctctcgtccgc	17	13	1	0			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr16:2331442G>A	uc002cpy.1	-	27	4816	c.4104C>T	c.(4102-4104)ATC>ATT	p.I1368I	ABCA3_uc010bsk.1_Silent_p.I1310I	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	1368					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				TGGGGGCCAGGATGCGGGTCC	0.567													A	2331442	G	A	2331442	2	1	46	1	0	0	0	0	0	0	0	1	33	1164	41	4		4	ABCA3	16	2331442	Silent	SNP	G	TCGA-BR-7196-01A-11D-2053-08	4704	2331442	88023311	59	37791											
BCL7C	9274	broad.mit.edu	37	chr16	30903924	30903924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctctctcttggcccagcCgtgggggctgagcctcctca	11	16	3	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr16:30903924C>T	uc002dzv.2	-	4	559	c.425G>A	c.(424-426)CGG>CAG	p.R142Q	BCL7C_uc002dzt.1_Missense_Mutation_p.R142Q|uc002dzu.2_Intron|MIR762_hsa-mir-762|MI0003892_5'Flank	NM_004765	NP_004756	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	142	Pro-rich.				apoptosis						0			Colorectal(24;0.198)			TTGGCCCAGCCGTGGGGGCTG	0.642													T	30903924	C	T	30903924	3	4	46	1	0	0	0	0	1	0	0	0	1380	652	23	1	240	1	BCL7C	16	30903924	Missense_Mutation	SNP	C	TCGA-BR-7196-01A-11D-2053-08	28572482	30903924	59450829	60	37792											
ARMC5	79798	broad.mit.edu	37	chr16	31476027	31476027	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaccggcgcaccgggcccGcccagcccacgtgcactgcg	14	19	0	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr16:31476027G>A	uc002ecc.2	+	4	2212	c.1683G>A	c.(1681-1683)CCG>CCA	p.P561P	ARMC5_uc010vfn.1_Silent_p.P656P|ARMC5_uc010vfo.1_Silent_p.P593P|ARMC5_uc002eca.3_Silent_p.P561P|ARMC5_uc010vfp.1_Silent_p.P369P|ARMC5_uc002ecb.2_Silent_p.P561P	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	561							binding			pancreas(1)	1						CACCGGGCCCGCCCAGCCCAC	0.701													A	31476027	G	A	31476027	2	1	46	1	0	0	0	0	0	0	0	1	954	1074	38	1		1	ARMC5	16	31476027	Silent	SNP	G	TCGA-BR-7196-01A-11D-2053-08	572103	31476027	58878726	61	37793											
COX4I1	1327	broad.mit.edu	37	chr16	85839345	85839345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctgcccccagtgtatcGcattaagttcaaggagagct	9	12	2	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr16:85839345G>A	uc002fje.2	+	4	412	c.248G>A	c.(247-249)CGC>CAC	p.R83H	COX4I1_uc002fjf.2_3'UTR|COX4I1_uc002fjg.1_Missense_Mutation_p.R83H|COX4I1_uc010vom.1_Missense_Mutation_p.R50H	NM_001861	NP_001852	P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	83					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding			lung(1)	1		Renal(780;0.228)				CCAGTGTATCGCATTAAGTTC	0.537													A	85839345	G	A	85839345	3	1	46	1	0	0	0	0	1	0	0	0	3769	1087	38	1	258	1	COX4I1	16	85839345	Missense_Mutation	SNP	G	TCGA-BR-7196-01A-11D-2053-08	54363318	85839345	4515408	62	37794											
CAMKK1	84254	broad.mit.edu	37	chr17	3787704	3787704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactctgcagcttgtactgGttcagctgcacgcagtcctg	10	13	3	0			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr17:3787704G>A	uc002fwt.2	-	3	472	c.378C>T	c.(376-378)AAC>AAT	p.N126N	CAMKK1_uc002fwu.2_Silent_p.N126N|CAMKK1_uc002fwv.2_Silent_p.N126N	NM_172206	NP_757343	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase 1	126					synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.N126N(1)		ovary(1)	1				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GCTTGTACTGGTTCAGCTGCA	0.612													A	3787704	G	A	3787704	2	1	46	1	0	0	0	0	0	0	0	1	2606	1252	44	4		4	CAMKK1	17	3787704	Silent	SNP	G	TCGA-BR-7196-01A-11D-2053-08		3787704	77407506	63	37795											
RNF167	26001	broad.mit.edu	37	chr17	4848302	4848302	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cctccctcttcccctgttatCctggtctaataaccccccac	3	20	2	0			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr17:4848302C>G	uc002fzq.2	+	11	1460	c.1044C>G	c.(1042-1044)ATC>ATG	p.I348M	RNF167_uc002fzr.2_Missense_Mutation_p.I348M|RNF167_uc002fzs.2_Missense_Mutation_p.I348M|RNF167_uc002fzt.2_Missense_Mutation_p.I348M|RNF167_uc002fzu.2_Missense_Mutation_p.I347M|RNF167_uc002fzv.2_Missense_Mutation_p.I313M|RNF167_uc002fzx.2_Missense_Mutation_p.I312M|RNF167_uc002fzy.2_Missense_Mutation_p.I147M	NM_015528	NP_056343	Q9H6Y7	RN167_HUMAN	ring finger protein 167 precursor	348					negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						CCCCTGTTATCCTGGTCTAAT	0.552													G	4848302	C	G	4848302	3	3	46	1	0	0	0	0	1	0	0	0	13458	845	30	5	1078	5	RNF167	17	4848302	Missense_Mutation	SNP	C	TCGA-BR-7196-01A-11D-2053-08	1060598	4848302	76346908	64	37796											
CCR7	1236	broad.mit.edu	37	chr17	38711207	38711207	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggctgtaggtgacgtcGtaggcgatgttgagttgctt	16	7	0	2	rs116263918	byFrequency	TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr17:38711207G>A	uc002huw.2	-	3	987	c.924C>T	c.(922-924)TAC>TAT	p.Y308Y		NM_001838	NP_001829	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7 precursor	308	Extracellular (Potential).				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)	1		Breast(137;0.000496)				AGGTGACGTCGTAGGCGATGT	0.567													A	38711207	G	A	38711207	2	1	46	1	0	0	0	0	0	0	0	1	2946	1140	40	1		1	CCR7	17	38711207	Silent	SNP	G	TCGA-BR-7196-01A-11D-2053-08	33862905	38711207	42484003	65	37797											
BCAS3	54828	broad.mit.edu	37	chr17	59155713	59155713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgaaattgtaacacacaCtggaccccatagacgtctgt	9	10	1	2			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr17:59155713C>T	uc002iyv.3	+	22	2304	c.2195C>T	c.(2194-2196)ACT>ATT	p.T732I	BCAS3_uc002iyu.3_Missense_Mutation_p.T717I|BCAS3_uc002iyw.3_Missense_Mutation_p.T713I|BCAS3_uc002iyy.3_Missense_Mutation_p.T488I|BCAS3_uc002iyz.3_Missense_Mutation_p.T286I|BCAS3_uc002iza.3_Missense_Mutation_p.T271I	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	732						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GTAACACACACTGGACCCCAT	0.443													T	59155713	C	T	59155713	3	4	46	1	0	0	0	0	1	0	0	0	1352	565	20	4	2277	4	BCAS3	17	59155713	Missense_Mutation	SNP	C	TCGA-BR-7196-01A-11D-2053-08	20444506	59155713	22039497	66	37798											
MIB1	57534	broad.mit.edu	37	chr18	19444574	19444574	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aactctgtggagaccgcatgAgtgaatgtcctatctgtcgc	11	10	2	3			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr18:19444574A>T	uc002ktq.2	+	21	2968	c.2968A>T	c.(2968-2970)AGT>TGT	p.S990C	MIB1_uc002ktp.2_Missense_Mutation_p.S629C	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	990	RING-type 3.				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)			AGACCGCATGAGTGAATGTCC	0.408													T	19444574	A	T	19444574	3	4	46	1	0	0	0	0	1	0	0	0	9566	304	11	5	3050	5	MIB1	18	19444574	Missense_Mutation	SNP	A	TCGA-BR-7196-01A-11D-2053-08		19444574	58632674	67	37799											
FHOD3	80206	broad.mit.edu	37	chr18	34340633	34340633	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagggtctgagctatgcGgaggacgcggctgagcacga	17	11	1	2			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr18:34340633G>A	uc002kzt.1	+	22	4009	c.3912G>A	c.(3910-3912)GCG>GCA	p.A1304A	FHOD3_uc002kzs.1_Silent_p.A1321A|FHOD3_uc010dmz.1_Silent_p.A1036A|FHOD3_uc010dnb.1_Intron	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1304					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TGAGCTATGCGGAGGACGCGG	0.652													A	34340633	G	A	34340633	2	1	46	1	0	0	0	0	0	0	0	1	5883	1103	39	1		1	FHOD3	18	34340633	Silent	SNP	G	TCGA-BR-7196-01A-11D-2053-08	14896059	34340633	43736615	68	37800											
SBNO2	22904	broad.mit.edu	37	chr19	1119967	1119967	+	Frame_Shift_Del	DEL	T	T	-													tctgcaggtctagcacagccTtgcccatcttggtggagccg							TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr19:1119967delT	uc002lrk.3	-	12	1443	c.1205delA	c.(1204-1206)AAGfs	p.K402fs	SBNO2_uc002lrj.3_Frame_Shift_Del_p.K345fs|SBNO2_uc010dse.2_Frame_Shift_Del_p.K395fs|SBNO2_uc010xgj.1_Frame_Shift_Del_p.K345fs|SBNO2_uc010dsf.2_Frame_Shift_Del_p.K345fs	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 isoform 1	402					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent						0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGCACAGCCTTGCCCATCTT	0.627													-	1119967	T	-	1119967	7	5	46	1	0	1	0	1	0	0	0	0	13863	1609	56	0	2979	0	SBNO2	19	1119967	Frame_Shift_Del	DEL	T	TCGA-BR-7196-01A-11D-2053-08		1119967	58009016	69	37801											
UHRF1	29128	broad.mit.edu	37	chr19	4929291	4929291	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctgaatgacaccatccagCtcctggtccgccagagcctc	9	17	0	3			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr19:4929291C>A	uc002mbo.2	+	3	379	c.211C>A	c.(211-213)CTC>ATC	p.L71I	UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.L84I	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	71	Ubiquitin-like.				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CACCATCCAGCTCCTGGTCCG	0.637													A	4929291	C	A	4929291	3	1	46	1	0	0	0	0	1	0	0	0	16964	797	28	5	256	5	UHRF1	19	4929291	Missense_Mutation	SNP	C	TCGA-BR-7196-01A-11D-2053-08	3809324	4929291	54199692	70	37802											
DHPS	1725	broad.mit.edu	37	chr19	12790510	12790510	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaacttgcagtaattctcaTtgggcaccagcaggtttccg	9	11	1	0			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr19:12790510T>A	uc002muh.1	-	4	615	c.518A>T	c.(517-519)AAT>ATT	p.N173I	DHPS_uc002muf.1_Missense_Mutation_p.N50I|DHPS_uc002mug.1_Missense_Mutation_p.N131I|DHPS_uc002mui.1_Missense_Mutation_p.N173I|DHPS_uc002muj.1_Missense_Mutation_p.N173I|DHPS_uc002muk.1_RNA|DHPS_uc010xmn.1_RNA	NM_001930	NP_001921	P49366	DHYS_HUMAN	deoxyhypusine synthase isoform a	173					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)	1					Sulfadoxine(DB01299)	GTAATTCTCATTGGGCACCAG	0.592													A	12790510	T	A	12790510	3	1	46	1	0	0	0	0	1	0	0	0	4485	1493	52	5	615	5	DHPS	19	12790510	Missense_Mutation	SNP	T	TCGA-BR-7196-01A-11D-2053-08	7861219	12790510	46338473	71	37803											
CYP2S1	29785	broad.mit.edu	37	chr19	41700606	41700606	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatgctggaagggacttttgAtggccatggtaagtcaaggg	16	5	1	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr19:41700606A>T	uc002opw.2	+	2	390	c.335A>T	c.(334-336)GAT>GTT	p.D112V	CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_Missense_Mutation_p.M1L	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S,	112					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			skin(1)	1						GGGACTTTTGATGGCCATGGT	0.473													T	41700606	A	T	41700606	3	4	46	1	0	0	0	0	1	0	0	0	4174	333	12	5	341	5	CYP2S1	19	41700606	Missense_Mutation	SNP	A	TCGA-BR-7196-01A-11D-2053-08	28910096	41700606	17428377	72	37804											
CEACAM5	1048	broad.mit.edu	37	chr19	42219758	42219758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaataatagtggatcctataCgtgccaagcccataactcag	8	10	1	0			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr19:42219758C>T	uc002ork.2	+	4	1014	c.893C>T	c.(892-894)ACG>ATG	p.T298M	CEACAM5_uc010ehz.1_3'UTR|CEACAM5_uc002orj.1_Missense_Mutation_p.T298M|CEACAM5_uc002orl.2_Missense_Mutation_p.T298M	NM_004363	NP_004354	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion	298	Ig-like 3.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				skin(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GGATCCTATACGTGCCAAGCC	0.473													T	42219758	C	T	42219758	3	4	46	1	0	0	0	0	1	0	0	0	3195	536	19	1	907	1	CEACAM5	19	42219758	Missense_Mutation	SNP	C	TCGA-BR-7196-01A-11D-2053-08	519152	42219758	16909225	73	37805											
ZNF221	7638	broad.mit.edu	37	chr19	44470470	44470470	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatcagcacttaatgttcaTtgcaaattgcacacaggaga	8	8	2	2			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr19:44470470T>C	uc002oxx.2	+	6	1144	c.816T>C	c.(814-816)CAT>CAC	p.H272H	ZNF221_uc010ejb.1_Silent_p.H272H|ZNF221_uc010xws.1_Silent_p.H272H	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	272	C2H2-type 4; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Prostate(69;0.0352)				TTAATGTTCATTGCAAATTGC	0.413													C	44470470	T	C	44470470	2	2	46	1	0	0	0	0	0	0	0	1	17772	1490	52	3		3	ZNF221	19	44470470	Silent	SNP	T	TCGA-BR-7196-01A-11D-2053-08	2250712	44470470	14658513	74	37806											
MYBPC2	4606	broad.mit.edu	37	chr19	50958504	50958504	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtcttcgccgtcaatgcTataggggtctcccagcccag	11	14	3	0			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr19:50958504T>C	uc002psf.2	+	19	2205	c.2154T>C	c.(2152-2154)GCT>GCC	p.A718A		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	718	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCGTCAATGCTATAGGGGTCT	0.483													C	50958504	T	C	50958504	2	2	46	1	0	0	0	0	0	0	0	1	10012	1509	53	3		3	MYBPC2	19	50958504	Silent	SNP	T	TCGA-BR-7196-01A-11D-2053-08	6488034	50958504	8170479	75	37807											
ELMO2	63916	broad.mit.edu	37	chr20	45003173	45003173	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggccagctcccctgcctttAcccggatgtaggtgtcctgg	12	14	0	0			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr20:45003173A>T	uc002xrt.1	-	14	1380	c.1170_splice	c.e14+1	p.R390_splice	ELMO2_uc010zxq.1_Splice_Site_p.R122_splice|ELMO2_uc002xrs.1_Splice_Site_p.R137_splice|ELMO2_uc002xru.1_Splice_Site_p.R390_splice|ELMO2_uc010zxr.1_Splice_Site_p.R402_splice|ELMO2_uc010zxs.1_Splice_Site_p.R207_splice|ELMO2_uc002xrv.1_Splice_Site_p.R109_splice|ELMO2_uc002xrw.2_Splice_Site_p.R207_splice	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2						apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CCCTGCCTTTACCCGGATGTA	0.542													T	45003173	A	T	45003173	5	4	46	1	0	0	0	0	0	0	1	0	5066	405	14	5	1026	5	ELMO2	20	45003173	Splice_Site	SNP	A	TCGA-BR-7196-01A-11D-2053-08		45003173	18022347	76	37808											
SNAI1	6615	broad.mit.edu	37	chr20	48600433	48600433	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctccggagatcctcaaccCcaccgcctcgctgccaatgc	7	20	1	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr20:48600433C>G	uc002xuz.2	+	2	225	c.155C>G	c.(154-156)CCC>CGC	p.P52R		NM_005985	NP_005976	O95863	SNAI1_HUMAN	snail 1 homolog	52					epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			ATCCTCAACCCCACCGCCTCG	0.637													G	48600433	C	G	48600433	3	3	46	1	0	0	0	0	1	0	0	0	14826	623	22	5	161	5	SNAI1	20	48600433	Missense_Mutation	SNP	C	TCGA-BR-7196-01A-11D-2053-08	3597260	48600433	14425087	77	37809											
MOCS3	27304	broad.mit.edu	37	chr20	49576176	49576176	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgctgaaaatcgctgcggGtctgggcccctcttacagtg	13	11	2	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr20:49576176G>T	uc002xvy.1	+	1	814	c.797G>T	c.(796-798)GGT>GTT	p.G266V	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	266					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			skin(2)|ovary(1)	3						ATCGCTGCGGGTCTGGGCCCC	0.637													T	49576176	G	T	49576176	3	4	46	1	0	0	0	0	1	0	0	0	9692	1261	44	5	799	5	MOCS3	20	49576176	Missense_Mutation	SNP	G	TCGA-BR-7196-01A-11D-2053-08	975743	49576176	13449344	78	37810											
SON	6651	broad.mit.edu	37	chr21	34918589	34918589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaccaggcgggtgatgcaGctgcctctgccaggagtcta	14	11	2	1			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr21:34918589G>A	uc002yse.1	+	2	197	c.148G>A	c.(148-150)GCT>ACT	p.A50T	SON_uc002ysb.1_Missense_Mutation_p.A50T|SON_uc002ysc.2_Missense_Mutation_p.A50T|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Missense_Mutation_p.A50T	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	50					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						GGGTGATGCAGCTGCCTCTGC	0.428													A	34918589	G	A	34918589	3	1	46	1	0	0	0	0	1	0	0	0	14926	971	34	2	154	2	SON	21	34918589	Missense_Mutation	SNP	G	TCGA-BR-7196-01A-11D-2053-08		34918589	13211306	79	37811											
DYRK1A	1859	broad.mit.edu	37	chr21	38877823	38877823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacaaatacaagtaatagtGtatctacaagccccgccatg	7	10	1	0			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr21:38877823G>A	uc002ywk.2	+	9	1552	c.1477G>A	c.(1477-1479)GTA>ATA	p.V493I	DYRK1A_uc002ywi.2_Missense_Mutation_p.V493I|DYRK1A_uc002ywj.2_Missense_Mutation_p.V484I|DYRK1A_uc002ywl.2_Missense_Mutation_p.V493I|DYRK1A_uc002ywm.2_Missense_Mutation_p.V493I|DYRK1A_uc011aei.1_Missense_Mutation_p.V254I	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	493					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			ovary(2)|lung(1)|breast(1)	4						AAGTAATAGTGTATCTACAAG	0.468													A	38877823	G	A	38877823	3	1	46	1	0	0	0	0	1	0	0	0	4854	1377	48	4	1511	4	DYRK1A	21	38877823	Missense_Mutation	SNP	G	TCGA-BR-7196-01A-11D-2053-08	3959234	38877823	9252072	80	37812											
NIPSNAP1	8508	broad.mit.edu	37	chr22	29956772	29956772	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatctgtgagaagaagccGcccactgcctcctggttctc	9	15	2	2			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr22:29956772G>A	uc003afx.3	-	8	730	c.657C>T	c.(655-657)GGC>GGT	p.G219G	NIPSNAP1_uc011akp.1_Silent_p.G199G	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1	219								p.?(1)		skin(1)	1						AGAAGAAGCCGCCCACTGCCT	0.557													A	29956772	G	A	29956772	2	1	46	1	0	0	0	0	0	0	0	1	10429	1074	38	1		1	NIPSNAP1	22	29956772	Silent	SNP	G	TCGA-BR-7196-01A-11D-2053-08		29956772	21347794	81	37813											
PKDREJ	10343	broad.mit.edu	37	chr22	46657925	46657925	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agtccttccgaatcaccattCtgaagaaatacacgtggtcg	8	11	2	2			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chr22:46657925C>G	uc003bhh.2	-	1	1295	c.1295G>C	c.(1294-1296)AGA>ACA	p.R432T		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	432	Extracellular (Potential).|REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AATCACCATTCTGAAGAAATA	0.502													G	46657925	C	G	46657925	3	3	46	1	0	0	0	0	1	0	0	0	11970	913	32	5	5470	5	PKDREJ	22	46657925	Missense_Mutation	SNP	C	TCGA-BR-7196-01A-11D-2053-08	16701153	46657925	4646641	82	37814											
BCOR	54880	broad.mit.edu	37	chrX	39923604	39923604	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacctttagagactcgtcGgcgtttggctttcagcagag	11	11	2	2			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chrX:39923604G>A	uc004den.3	-	7	3779	c.3487C>T	c.(3487-3489)CGA>TGA	p.R1163*	BCOR_uc004dep.3_Nonsense_Mutation_p.R1163*|BCOR_uc004deo.3_Nonsense_Mutation_p.R1145*|BCOR_uc010nhb.2_5'Flank|BCOR_uc004dem.3_Nonsense_Mutation_p.R1163*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	1163					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						GAGACTCGTCGGCGTTTGGCT	0.627													A	39923604	G	A	39923604	4	1	46	1	0	0	0	0	0	1	0	0	1386	1124	39	1	1816	1	BCOR	23	39923604	Nonsense_Mutation	SNP	G	TCGA-BR-7196-01A-11D-2053-08		39923604	115346956	83	37815											
ZBTB33	10009	broad.mit.edu	37	chrX	119389023	119389023	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctggggactcaaagctttatCgtttacatccatgcaggtct	9	10	2	0			TCGA-BR-7196-01A-11D-2053-08	TCGA-BR-7196-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd3a3c08-528b-44e9-bd44-1b6c48248baa	8627b3c5-c183-425c-96a0-c86a4ac4de83	g.chrX:119389023C>G	uc004esn.1	+	2	1981	c.1753C>G	c.(1753-1755)CGT>GGT	p.R585G	ZBTB33_uc010nqm.1_Missense_Mutation_p.R585G	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	kaiso	585	Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						AAAGCTTTATCGTTTACATCC	0.378													G	119389023	C	G	119389023	3	3	46	1	0	0	0	0	1	0	0	0	17533	884	31	5	1755	5	ZBTB33	23	119389023	Missense_Mutation	SNP	C	TCGA-BR-7196-01A-11D-2053-08	79465419	119389023	35881537	84	37816											
CAMTA1	23261	broad.mit.edu	37	chr1	7737720	7737720	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccagatcatctccaactcGgtggtgtttgagtacaaagc	9	10	2	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr1:7737720G>A	uc001aoi.2	+	11	3048	c.2841G>A	c.(2839-2841)TCG>TCA	p.S947S	CAMTA1_uc010nzv.1_Silent_p.S34S|CAMTA1_uc001aok.3_5'Flank	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	947	IPT/TIG.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCTCCAACTCGGTGGTGTTTG	0.552													A	7737720	G	A	7737720	2	1	47	1	0	0	0	0	0	0	0	1	2613	1103	39	1		1	CAMTA1	1	7737720	Silent	SNP	G	TCGA-BR-7197-01A-11D-2201-08		7737720	241512901	1	37817											
ZMYM1	79830	broad.mit.edu	37	chr1	35570337	35570337	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggacagtctcattacttTaatagttcaaagagtattac	7	6	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr1:35570337T>G	uc001bym.2	+	7	922	c.774T>G	c.(772-774)TTT>TTG	p.F258L	ZMYM1_uc009vus.1_RNA|ZMYM1_uc001byn.2_Missense_Mutation_p.F258L|ZMYM1_uc010ohu.1_Missense_Mutation_p.F258L|ZMYM1_uc001byo.2_5'UTR|ZMYM1_uc009vut.2_Missense_Mutation_p.F183L	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM domain containing 1	258						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTCATTACTTTAATAGTTCAA	0.378													G	35570337	T	G	35570337	3	3	47	1	0	0	0	0	1	0	0	0	17696	1751	61	5	792	5	ZMYM1	1	35570337	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	27832617	35570337	213680284	2	37818											
CAP1	10487	broad.mit.edu	37	chr1	40535894	40535894	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agctgaaacaggtggcttacAtatacaagtgtgtcaacacg	10	8	1	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr1:40535894A>T	uc001cfa.3	+	10	1286	c.1057A>T	c.(1057-1059)ATA>TTA	p.I353L	CAP1_uc001cey.3_Missense_Mutation_p.I353L|CAP1_uc001cez.3_Missense_Mutation_p.I353L|CAP1_uc009vvz.2_Missense_Mutation_p.I353L|CAP1_uc010oje.1_Missense_Mutation_p.I270L	NM_006367	NP_006358	Q01518	CAP1_HUMAN	adenylyl cyclase-associated protein	353	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			ovary(1)	1	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGTGGCTTACATATACAAGTG	0.458													T	40535894	A	T	40535894	3	4	47	1	0	0	0	0	1	0	0	0	2619	217	8	5	1091	5	CAP1	1	40535894	Missense_Mutation	SNP	A	TCGA-BR-7197-01A-11D-2201-08	4965557	40535894	208714727	3	37819											
INSL5	10022	broad.mit.edu	37	chr1	67266854	67266854	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tccttgctccgcacttctgaGatggcaaataggacagagaa	10	10	1	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr1:67266854G>C	uc001dcw.2	-	1	86	c.51C>G	c.(49-51)ATC>ATG	p.I17M		NM_005478	NP_005469	Q9Y5Q6	INSL5_HUMAN	insulin-like 5 precursor	17						extracellular region	hormone activity				0						GCACTTCTGAGATGGCAAATA	0.433													C	67266854	G	C	67266854	3	2	47	1	0	0	0	0	1	0	0	0	7769	932	33	5	364	5	INSL5	1	67266854	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	26730960	67266854	181983767	4	37820											
LRRC7	57554	broad.mit.edu	37	chr1	70555456	70555456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccttggatttagtatcaGtggtggaattagtggacaag	14	4	1	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr1:70555456G>A	uc001dep.2	+	23	4415	c.4385G>A	c.(4384-4386)AGT>AAT	p.S1462N	LRRC7_uc009wbg.2_Missense_Mutation_p.S746N|LRRC7_uc001deq.2_Missense_Mutation_p.S656N	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1462	PDZ.					centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TTTAGTATCAGTGGTGGAATT	0.299													A	70555456	G	A	70555456	3	1	47	1	0	0	0	0	1	0	0	0	9020	1029	36	4	4475	4	LRRC7	1	70555456	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	3288602	70555456	178695165	5	37821											
HFM1	164045	broad.mit.edu	37	chr1	91784848	91784848	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccactaatcctgtaacatAcatcttgtaattcgggagcc	6	11	1	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr1:91784848A>G	uc001doa.3	-	24	2780	c.2680_splice	c.e24+1	p.W894_splice	HFM1_uc009wdb.2_Splice_Site|HFM1_uc010osu.1_Splice_Site_p.W573_splice|HFM1_uc001dob.3_Splice_Site_p.C126_splice|HFM1_uc010osv.1_Splice_Site_p.W578_splice	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein								ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CCTGTAACATACATCTTGTAA	0.333													G	91784848	A	G	91784848	5	3	47	1	0	0	0	0	0	0	1	0	7083	405	14	3	1689	3	HFM1	1	91784848	Splice_Site	SNP	A	TCGA-BR-7197-01A-11D-2201-08	21229392	91784848	157465773	6	37822											
TMEM56	148534	broad.mit.edu	37	chr1	95639441	95639441	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttccagcccgtttgtgaatCagcggtatgttactgatatc	9	9	1	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr1:95639441C>T	uc001drb.2	+	6	760	c.469C>T	c.(469-471)CAG>TAG	p.Q157*	RWDD3_uc001drd.3_Nonsense_Mutation_p.Q157*|uc001dre.1_Intron|TMEM56_uc001drc.2_Nonsense_Mutation_p.Q157*	NM_152487	NP_689700	Q96MV1	TMM56_HUMAN	transmembrane protein 56	157	TLC.					integral to membrane					0		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		GTTTGTGAATCAGCGGTATGT	0.368													T	95639441	C	T	95639441	4	4	47	1	0	0	0	0	0	1	0	0	16180	827	29	4	487	4	TMEM56	1	95639441	Nonsense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	3854593	95639441	153611180	7	37823											
VAV3	10451	broad.mit.edu	37	chr1	108313276	108313276	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accttttctattgactccaaAgtttctgtatatttttcttc	3	9	3	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr1:108313276A>C	uc001dvk.1	-	6	684	c.630T>G	c.(628-630)ACT>ACG	p.T210T	VAV3_uc010ouw.1_Silent_p.T210T|VAV3_uc001dvl.1_Silent_p.T34T|VAV3_uc010oux.1_Silent_p.T210T	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	210	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TTGACTCCAAAGTTTCTGTAT	0.303													C	108313276	A	C	108313276	2	2	47	1	0	0	0	0	0	0	0	1	17130	59	3	5		5	VAV3	1	108313276	Silent	SNP	A	TCGA-BR-7197-01A-11D-2201-08	12673835	108313276	140937345	8	37824											
SLC6A17	388662	broad.mit.edu	37	chr1	110714822	110714822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccccgcctggggggcatcGgcttctccagctgcatagtg	14	14	1	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr1:110714822G>A	uc009wfq.2	+	3	888	c.427G>A	c.(427-429)GGC>AGC	p.G143S		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	143	Cytoplasmic (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GGGGGGCATCGGCTTCTCCAG	0.642													A	110714822	G	A	110714822	3	1	47	1	0	0	0	0	1	0	0	0	14680	1116	39	1	433	1	SLC6A17	1	110714822	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	2401546	110714822	138535799	9	37825											
GJA8	2703	broad.mit.edu	37	chr1	147380926	147380926	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcccactatttccccttgAccgaggttgggatggtggag	12	10	0	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr1:147380926A>C	uc001epu.1	+	2	907	c.844A>C	c.(844-846)ACC>CCC	p.T282P		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	282	Cytoplasmic (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					TTTCCCCTTGACCGAGGTTGG	0.547													C	147380926	A	C	147380926	3	2	47	1	0	0	0	0	1	0	0	0	6405	275	10	5	846	5	GJA8	1	147380926	Missense_Mutation	SNP	A	TCGA-BR-7197-01A-11D-2201-08	36666104	147380926	101869695	10	37826											
MCL1	4170	broad.mit.edu	37	chr1	150550743	150550743	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctctttgtttaactagccAgtcccgttttgtccttacga	7	12	1	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr1:150550743A>C	uc001euz.2	-	2	1043	c.913T>G	c.(913-915)TGG>GGG	p.W305G	MCL1_uc010pch.1_Missense_Mutation_p.W195G|MCL1_uc001eva.2_Intron	NM_021960	NP_068779	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 isoform 1	305	BH2.				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity				0	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TTAACTAGCCAGTCCCGTTTT	0.433													C	150550743	A	C	150550743	3	2	47	1	0	0	0	0	1	0	0	0	9384	188	7	5	158	5	MCL1	1	150550743	Missense_Mutation	SNP	A	TCGA-BR-7197-01A-11D-2201-08	3169817	150550743	98699878	11	37827											
POGZ	23126	broad.mit.edu	37	chr1	151378488	151378488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgggaggcctggaaacgtCgaagccaacggcgaatacgt	14	11	0	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr1:151378488C>T	uc001eyd.1	-	19	3329	c.3023G>A	c.(3022-3024)CGA>CAA	p.R1008Q	POGZ_uc001eye.1_Missense_Mutation_p.R955Q|POGZ_uc010pdb.1_Missense_Mutation_p.R999Q|POGZ_uc001eyf.1_Missense_Mutation_p.R964Q|POGZ_uc010pdc.1_Missense_Mutation_p.R946Q|POGZ_uc009wmv.1_Missense_Mutation_p.R913Q|POGZ_uc010pdd.1_Missense_Mutation_p.R499Q	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1008					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGAAACGTCGAAGCCAACG	0.522													T	151378488	C	T	151378488	3	4	47	1	0	0	0	0	1	0	0	0	12186	884	31	1	1213	1	POGZ	1	151378488	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	827745	151378488	97872133	12	37828											
FCGR2A	2212	broad.mit.edu	37	chr1	161480730	161480730	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggccttgatctactgcagGaaaaagcggatttcaggttt	12	7	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr1:161480730G>A	uc001gan.2	+	5	779	c.726G>A	c.(724-726)AGG>AGA	p.R242R	FCGR2A_uc001gam.2_Silent_p.R241R|FCGR2A_uc001gao.2_RNA	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor	242	Cytoplasmic (Potential).					integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCTACTGCAGGAAAAAGCGGA	0.522													A	161480730	G	A	161480730	2	1	47	1	0	0	0	0	0	0	0	1	5781	1165	41	4		4	FCGR2A	1	161480730	Silent	SNP	G	TCGA-BR-7197-01A-11D-2201-08	10102242	161480730	87769891	13	37829											
TNN	63923	broad.mit.edu	37	chr1	175067563	175067563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccgccattgacaagtacGtggtgcgctacacctctgct	11	13	1	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr1:175067563G>A	uc001gkl.1	+	9	2064	c.1951G>A	c.(1951-1953)GTG>ATG	p.V651M	TNN_uc010pmx.1_Missense_Mutation_p.V562M	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	651	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGACAAGTACGTGGTGCGCTA	0.597													A	175067563	G	A	175067563	3	1	47	1	0	0	0	0	1	0	0	0	16320	1145	40	1	1981	1	TNN	1	175067563	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	13586833	175067563	74183058	14	37830											
HMCN1	83872	broad.mit.edu	37	chr1	186056429	186056429	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tagctatcaatcaagctggcGaaagcaagaaaaagttttcc	8	8	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr1:186056429G>T	uc001grq.1	+	59	9356	c.9127G>T	c.(9127-9129)GAA>TAA	p.E3043*		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3043	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TCAAGCTGGCGAAAGCAAGAA	0.353													T	186056429	G	T	186056429	4	4	47	1	0	0	0	0	0	1	0	0	7220	1059	37	5	9361	5	HMCN1	1	186056429	Nonsense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	10988866	186056429	63194192	15	37831											
CABC1	56997	broad.mit.edu	37	chr1	227165157	227165157	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccttgcaggtctggcCgtgggcctgggcttcggggc	16	14	1	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr1:227165157C>T	uc001hqm.1	+	10	4082	c.663C>T	c.(661-663)GCC>GCT	p.A221A	CABC1_uc001hqn.1_Silent_p.A221A|CABC1_uc009xeq.1_Silent_p.A169A|CABC1_uc010pvq.1_5'UTR|CABC1_uc010pvr.1_5'UTR|CABC1_uc001hqo.1_5'UTR	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	221					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				CAGGTCTGGCCGTGGGCCTGG	0.716													T	227165157	C	T	227165157	2	4	47	1	0	0	0	0	0	0	0	1	2527	639	23	1		1	CABC1	1	227165157	Silent	SNP	C	TCGA-BR-7197-01A-11D-2201-08	41108728	227165157	22085464	16	37832											
WNT9A	7483	broad.mit.edu	37	chr1	228111927	228111927	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaattccttgacgaacttgCtgctgtacttaaggttgtct	10	8	1	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr1:228111927C>A	uc001hri.2	-	3	615	c.527G>T	c.(526-528)AGC>ATC	p.S176I		NM_003395	NP_003386	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family,	176					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|pancreas(1)	2		Prostate(94;0.0405)				GACGAACTTGCTGCTGTACTT	0.592													A	228111927	C	A	228111927	3	1	47	1	0	0	0	0	1	0	0	0	17395	797	28	5	578	5	WNT9A	1	228111927	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	946770	228111927	21138694	17	37833											
OBSCN	84033	broad.mit.edu	37	chr1	228434288	228434289	+	Frame_Shift_Ins	INS	-	-	G													tgaggtgcggactgaggcagINSgggccagtgccacactgagc							TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr1:228434287_228434288A>AG	uc009xez.1	+	12	3860_3861	c.3816_3817A>AG	c.(3814-3819)gcagggfs	p.A1272fs	OBSCN_uc001hsn.3_Frame_Shift_Ins_p.A1272fs	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1272	Ig-like 13.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.E1271E(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGACTGAGGCAGGGGCCAGTGC	0.584													G	228434289	-	G	228434288	7	5	47	1	0	1	1	0	0	0	0	0	10812	1000	35	0	3863	0	OBSCN	1	228434288	Frame_Shift_Ins	INS	-	TCGA-BR-7197-01A-11D-2201-08	322361	228434288	20816333	18	37834											
TAF1B	9014	broad.mit.edu	37	chr2	10059894	10059894	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaaagagaaaggccaaTcactgctgactaagaattca	8	9	2	4			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr2:10059894T>G	uc002qzz.2	+	14	1610	c.1510T>G	c.(1510-1512)TCA>GCA	p.S504A	TAF1B_uc002qzy.3_Missense_Mutation_p.S504A|TAF1B_uc010yja.1_Missense_Mutation_p.S249A|TAF1B_uc010exd.2_Missense_Mutation_p.S249A	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	TBP-associated factor 1B	504					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|breast(1)|pancreas(1)	3	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAAAGGCCAATCACTGCTGAC	0.388													G	10059894	T	G	10059894	3	3	47	1	0	0	0	0	1	0	0	0	15517	1435	50	5	1564	5	TAF1B	2	10059894	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08		10059894	233139479	19	37835											
C2orf16	84226	broad.mit.edu	37	chr2	27801239	27801239	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagggccatcccttcaaatCgtaaaatctgaggagttagc	9	11	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr2:27801239C>T	uc002rkz.3	+	1	1851	c.1800C>T	c.(1798-1800)ATC>ATT	p.I600I		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	600										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					CCCTTCAAATCGTAAAATCTG	0.393													T	27801239	C	T	27801239	2	4	47	1	0	0	0	0	0	0	0	1	2157	874	31	1		1	C2orf16	2	27801239	Silent	SNP	C	TCGA-BR-7197-01A-11D-2201-08	17741345	27801239	215398134	20	37836											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105924384	105924384	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccactcacagggttctcGttcagtgcaaacgtggctgc	10	14	3	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr2:105924384G>A	uc002tcq.2	-	2	459	c.375C>T	c.(373-375)AAC>AAT	p.N125N	TGFBRAP1_uc002tcr.3_Silent_p.N125N	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor	125	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|skin(1)	2						CAGGGTTCTCGTTCAGTGCAA	0.567													A	105924384	G	A	105924384	2	1	47	1	0	0	0	0	0	0	0	1	15821	1136	40	1		1	TGFBRAP1	2	105924384	Silent	SNP	G	TCGA-BR-7197-01A-11D-2201-08	78123145	105924384	137274989	21	37837											
C2orf40	84417	broad.mit.edu	37	chr2	106694260	106694260	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctattggcttaacagagatCgaaatggacatgaatactat	8	7	0	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr2:106694260C>T	uc010fjf.2	+	4	433	c.325C>T	c.(325-327)CGA>TGA	p.R109*		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	esophageal cancer related gene 4 protein	109						extracellular region|transport vesicle					0						TAACAGAGATCGAAATGGACA	0.453													T	106694260	C	T	106694260	4	4	47	1	0	0	0	0	0	1	0	0	2165	876	31	1	339	1	C2orf40	2	106694260	Nonsense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	769876	106694260	136505113	22	37838											
CNTNAP5	129684	broad.mit.edu	37	chr2	125262112	125262112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattcagaaaatgacagaaCgcgtagctgaaatcctcaca	8	9	2	5			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr2:125262112C>T	uc002tno.2	+	8	1667	c.1303C>T	c.(1303-1305)CGC>TGC	p.R435C	CNTNAP5_uc010flu.2_Missense_Mutation_p.R436C	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	435	Laminin G-like 2.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		AATGACAGAACGCGTAGCTGA	0.507													T	125262112	C	T	125262112	3	4	47	1	0	0	0	0	1	0	0	0	3650	536	19	1	1333	1	CNTNAP5	2	125262112	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	18567852	125262112	117937261	23	37839											
LRP1B	53353	broad.mit.edu	37	chr2	141108422	141108422	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggatccttttgtagaaaaTtccgcctggattaaactgag	9	7	0	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr2:141108422T>C	uc002tvj.1	-	77	12808	c.11836A>G	c.(11836-11838)ATT>GTT	p.I3946V		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3946	Extracellular (Potential).|LDL-receptor class B 33.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGTAGAAAATTCCGCCTGGA	0.333										TSP Lung(27;0.18)			C	141108422	T	C	141108422	3	2	47	1	0	0	0	0	1	0	0	0	8955	1493	52	3	2023	3	LRP1B	2	141108422	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	15846310	141108422	102090951	24	37840											
ZEB2	9839	broad.mit.edu	37	chr2	145156170	145156170	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccttcttgataaaagtcaAgttcagaggctcatctgagt	8	8	5	3			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr2:145156170A>G	uc002tvu.2	-	8	3064	c.2584T>C	c.(2584-2586)TTG>CTG	p.L862L	ZEB2_uc002tvv.2_Silent_p.L856L|ZEB2_uc010zbm.1_Silent_p.L833L|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Silent_p.L891L	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	862						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATAAAAGTCAAGTTCAGAGGC	0.348													G	145156170	A	G	145156170	2	3	47	1	0	0	0	0	0	0	0	1	17621	69	3	3		3	ZEB2	2	145156170	Silent	SNP	A	TCGA-BR-7197-01A-11D-2201-08	4047748	145156170	98043203	25	37841											
RBM43	375287	broad.mit.edu	37	chr2	152107515	152107515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaatgtgtgtcctataaaGgttaatcaggacttcaaggt	10	6	3	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr2:152107515G>A	uc002txh.2	-	4	1127	c.979C>T	c.(979-981)CTT>TTT	p.L327F		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	327							nucleotide binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(221;0.131)		GTCCTATAAAGGTTAATCAGG	0.328													A	152107515	G	A	152107515	3	1	47	1	0	0	0	0	1	0	0	0	13137	1000	35	4	98	4	RBM43	2	152107515	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	6951345	152107515	91091858	26	37842											
SCN1A	6323	broad.mit.edu	37	chr2	166901827	166901827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgttctgaggcagttgccGttgctgcctgctatattgaa	11	8	1	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr2:166901827G>A	uc010zcz.1	-	10	1406	c.1388C>T	c.(1387-1389)ACG>ATG	p.T463M	SCN1A_uc002udo.3_Missense_Mutation_p.T332M|SCN1A_uc010fpk.2_Missense_Mutation_p.T332M	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	463						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGCAGTTGCCGTTGCTGCCTG	0.443													A	166901827	G	A	166901827	3	1	47	1	0	0	0	0	1	0	0	0	13914	1145	40	1	4709	1	SCN1A	2	166901827	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	14794312	166901827	76297546	27	37843											
GAD1	2571	broad.mit.edu	37	chr2	171687619	171687619	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggcatggagggcttcaActtggagctctctgaccacc	13	11	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr2:171687619A>C	uc002ugi.2	+	5	886	c.464A>C	c.(463-465)AAC>ACC	p.N155T	GAD1_uc002ugh.2_Missense_Mutation_p.N155T	NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	155				N -> T (in Ref. 6; AAB26938).	glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GAGGGCTTCAACTTGGAGCTC	0.542													C	171687619	A	C	171687619	3	2	47	1	0	0	0	0	1	0	0	0	6179	43	2	5	478	5	GAD1	2	171687619	Missense_Mutation	SNP	A	TCGA-BR-7197-01A-11D-2201-08	4785792	171687619	71511754	28	37844											
TTN	7273	broad.mit.edu	37	chr2	179578722	179578722	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgctacattgatgatcTtaaggccggatactttgttg	11	7	1	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr2:179578722T>G	uc010zfg.1	-	89	23155	c.22931A>C	c.(22930-22932)AAG>ACG	p.K7644T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K4305T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8571							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K7644R(1)		ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGATGATCTTAAGGCCGGA	0.443													G	179578722	T	G	179578722	3	3	47	1	0	0	0	0	1	0	0	0	16732	1609	56	5	77950	5	TTN	2	179578722	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	7891103	179578722	63620651	29	37845											
TTN	7273	broad.mit.edu	37	chr2	179604456	179604456	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atccatttcttcttgcaaacTtgttttggctccttgctgaa	6	10	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr2:179604456T>G	uc010zfh.1	-	46	13215	c.12991A>C	c.(12991-12993)AGT>CGT	p.S4331R	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.S4264R|TTN_uc010zfj.1_Missense_Mutation_p.S4139R|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	4256							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGCAAACTTGTTTTGGCT	0.388													G	179604456	T	G	179604456	3	3	47	1	0	0	0	0	1	0	0	0	16732	1609	56	5	91285	5	TTN	2	179604456	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	25734	179604456	63594917	30	37846											
ZNF804A	91752	broad.mit.edu	37	chr2	185803431	185803458	+	Frame_Shift_Del	DEL	TGCAGCAGCACGCTGCAGCTGCTGCAGC	TGCAGCAGCACGCTGCAGCTGCTGCAGC	-													cactatccatcacactgtttTgcagcagcacgctgcagctg					rs112183442	byFrequency	TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr2:185803430_185803457TTGCAGCAGCACGCTGCAGCTGCTGCAGC>T	uc002uph.3	+	3	3901_3928	c.3307_3334TTGCAGCAGCACGCTGCAGCTGCTGCAGC>T	c.(3307-3336)ttgcagcagcacgctgcagctgctgcagctfs	p.L1103fs		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	1103						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCACACTGTTTtgcagcagcacgctgcagctgctgcagctgcagctgc	0.544													-	185803458	TGCAGCAGCACGCTGCAGCTGCTGCAGC	-	185803431	7	5	47	1	0	1	0	1	0	0	0	0	18167	1821	63	0	3322	0	ZNF804A	2	185803431	Frame_Shift_Del	DEL	TGCAGCAGCACGCTGCAGCTGCTGCAGC	TCGA-BR-7197-01A-11D-2201-08	6198975	185803431	57395942	31	37847											
ITGAV	3685	broad.mit.edu	37	chr2	187466848	187466848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgactggtcttctacccgcCggtgccagccaattgaattt	10	12	2	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr2:187466848C>T	uc002upq.2	+	2	562	c.286C>T	c.(286-288)CGG>TGG	p.R96W	ITGAV_uc010frs.2_Missense_Mutation_p.R96W|ITGAV_uc010zfv.1_Missense_Mutation_p.R50W	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	96	FG-GAP 1.|Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TTCTACCCGCCGGTGCCAGCC	0.433													T	187466848	C	T	187466848	3	4	47	1	0	0	0	0	1	0	0	0	7888	643	23	1	343	1	ITGAV	2	187466848	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	1663417	187466848	55732525	32	37848											
AOX1	316	broad.mit.edu	37	chr2	201485953	201485953	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttactgaagctgagaaatTtctggcgacagataaggtac	10	6	1	3			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr2:201485953T>C	uc002uvx.2	+	18	2086	c.1985T>C	c.(1984-1986)TTT>TCT	p.F662S	AOX1_uc010zhf.1_Missense_Mutation_p.F218S|AOX1_uc010fsu.2_Missense_Mutation_p.F28S	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	662					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GCTGAGAAATTTCTGGCGACA	0.398													C	201485953	T	C	201485953	3	2	47	1	0	0	0	0	1	0	0	0	729	1841	64	3	2055	3	AOX1	2	201485953	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	14019105	201485953	41713420	33	37849											
MAP2	4133	broad.mit.edu	37	chr2	210559838	210559838	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aacatgccaagaaaactgaaGaggctggtgatgaaatagaa	11	5	0	6			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr2:210559838G>C	uc002vde.1	+	7	3192	c.2944G>C	c.(2944-2946)GAG>CAG	p.E982Q	MAP2_uc002vdc.1_Missense_Mutation_p.E982Q|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.E978Q	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	982					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GAAAACTGAAGAGGCTGGTGA	0.398													C	210559838	G	C	210559838	3	2	47	1	0	0	0	0	1	0	0	0	9235	943	33	5	2958	5	MAP2	2	210559838	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	9073885	210559838	32639535	34	37850											
ERBB4	2066	broad.mit.edu	37	chr2	212248599	212248599	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcattgacagtatgttgttcTtcaggtactcagcttttccc	8	10	3	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr2:212248599T>G	uc002veg.1	-	28	3766	c.3668A>C	c.(3667-3669)AAG>ACG	p.K1223T	ERBB4_uc002veh.1_Missense_Mutation_p.K1207T|ERBB4_uc010zji.1_Missense_Mutation_p.K1213T|ERBB4_uc010zjj.1_Missense_Mutation_p.K1197T	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1223	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TATGTTGTTCTTCAGGTACTC	0.517										TSP Lung(8;0.080)			G	212248599	T	G	212248599	3	3	47	1	0	0	0	0	1	0	0	0	5209	1609	56	5	262	5	ERBB4	2	212248599	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	1688761	212248599	30950774	35	37851											
VWC2L	402117	broad.mit.edu	37	chr2	215440504	215440504	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggactggtggaagcctgctcAgtgttcgaaacgtgaatgcc	14	9	1	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr2:215440504A>C	uc002vet.2	+	4	759	c.629A>C	c.(628-630)CAG>CCG	p.Q210P	VWC2L_uc010zjl.1_3'UTR	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain-containing	210						extracellular region					0						AAGCCTGCTCAGTGTTCGAAA	0.478													C	215440504	A	C	215440504	3	2	47	1	0	0	0	0	1	0	0	0	17241	188	7	5	639	5	VWC2L	2	215440504	Missense_Mutation	SNP	A	TCGA-BR-7197-01A-11D-2201-08	3191905	215440504	27758869	36	37852											
DOCK10	55619	broad.mit.edu	37	chr2	225702525	225702525	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgctcctcatggcacTtggccacaatgtcggtcaga	10	14	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr2:225702525T>A	uc010fwz.1	-	25	3043	c.2804A>T	c.(2803-2805)AAG>ATG	p.K935M	DOCK10_uc002vob.2_Missense_Mutation_p.K929M	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	935							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTCATGGCACTTGGCCACAAT	0.468													A	225702525	T	A	225702525	3	1	47	1	0	0	0	0	1	0	0	0	4685	1609	56	5	3884	5	DOCK10	2	225702525	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	10262021	225702525	17496848	37	37853											
COL4A4	1286	broad.mit.edu	37	chr2	227896700	227896700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggtccctgatctccagGtggacccgggtcaggaatgt	15	10	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr2:227896700G>A	uc010zlt.1	-	40	4432	c.3778C>T	c.(3778-3780)CCT>TCT	p.P1260S		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	1260	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGATCTCCAGGTGGACCCGGG	0.542													A	227896700	G	A	227896700	3	1	47	1	0	0	0	0	1	0	0	0	3693	1261	44	4	1330	4	COL4A4	2	227896700	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	2194175	227896700	15302673	38	37854											
BHLHE40	8553	broad.mit.edu	37	chr3	5025133	5025133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacctgatcccaccttcagCgactgcctacctgcccatgc	6	19	1	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr3:5025133C>T	uc003bqf.2	+	5	1302	c.995C>T	c.(994-996)GCG>GTG	p.A332V	BHLHE40_uc011asw.1_Missense_Mutation_p.A192V	NM_003670	NP_003661	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	332						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCACCTTCAGCGACTGCCTAC	0.607													T	5025133	C	T	5025133	3	4	47	1	0	0	0	0	1	0	0	0	1423	768	27	1	1013	1	BHLHE40	3	5025133	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08		5025133	192997297	39	37855											
ATP2B2	491	broad.mit.edu	37	chr3	10442664	10442664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatggggtccttgtccaCggacttgcgcacctggtcag	13	13	1	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr3:10442664C>T	uc003bvt.2	-	5	1193	c.754G>A	c.(754-756)GTG>ATG	p.V252M	ATP2B2_uc003bvv.2_Missense_Mutation_p.V252M|ATP2B2_uc003bvw.2_Missense_Mutation_p.V252M|ATP2B2_uc010hdp.2_Missense_Mutation_p.V252M|ATP2B2_uc010hdo.2_Translation_Start_Site	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	252	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						TCCTTGTCCACGGACTTGCGC	0.587													T	10442664	C	T	10442664	3	4	47	1	0	0	0	0	1	0	0	0	1140	536	19	1	3053	1	ATP2B2	3	10442664	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	5417531	10442664	187579766	40	37856											
SLC25A38	54977	broad.mit.edu	37	chr3	39430993	39430993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttatcctgcagttacatcCggtgatcaaggctttcctgt	8	11	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr3:39430993C>T	uc003cjo.2	+	2	478	c.77C>T	c.(76-78)CCG>CTG	p.P26L		NM_017875	NP_060345	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	26	Solcar 1.				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CAGTTACATCCGGTGATCAAG	0.488													T	39430993	C	T	39430993	3	4	47	1	0	0	0	0	1	0	0	0	14502	652	23	1	83	1	SLC25A38	3	39430993	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	28988329	39430993	158591437	41	37857											
ST3GAL6	10402	broad.mit.edu	37	chr3	98489735	98489735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcatagggtggcacctgtGgaaatgaaacggagaaataa	12	6	1	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr3:98489735G>A	uc003dsz.2	+	3	338	c.102G>A	c.(100-102)GTG>GTA	p.V34V	ST3GAL6_uc003dsy.2_5'UTR|ST3GAL6_uc003dta.2_5'UTR|ST3GAL6_uc003dtb.2_Intron|ST3GAL6_uc003dtc.2_Silent_p.V34V|ST3GAL6_uc010hpd.2_Silent_p.V87V	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	alpha2,3-sialyltransferase VI	34	Lumenal (Potential).				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			ovary(1)	1						TGGCACCTGTGGAAATGAAAC	0.448													A	98489735	G	A	98489735	2	1	47	1	0	0	0	0	0	0	0	1	15218	1335	47	4		4	ST3GAL6	3	98489735	Silent	SNP	G	TCGA-BR-7197-01A-11D-2201-08	59058742	98489735	99532695	42	37858											
PIK3CB	5291	broad.mit.edu	37	chr3	138461469	138461469	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttatcttctaagttttcaggGatggatggttcatgctctgg	11	6	5	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr3:138461469G>A	uc011bmq.1	-	3	552	c.552C>T	c.(550-552)ATC>ATT	p.I184I		NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	184	PI3K-RBD.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						AGTTTTCAGGGATGGATGGTT	0.368													A	138461469	G	A	138461469	2	1	47	1	0	0	0	0	0	0	0	1	11914	1164	41	4		4	PIK3CB	3	138461469	Silent	SNP	G	TCGA-BR-7197-01A-11D-2201-08	39971734	138461469	59560961	43	37859											
SLC25A36	55186	broad.mit.edu	37	chr3	140692763	140692763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaaatgatgaagagtctGtgaaagaagcatcagatttt	11	3	2	6			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr3:140692763G>A	uc003etr.2	+	6	893	c.658G>A	c.(658-660)GTG>ATG	p.V220M	SLC25A36_uc003ets.2_Missense_Mutation_p.V220M|SLC25A36_uc003etq.2_Missense_Mutation_p.V63M|SLC25A36_uc011bmz.1_Missense_Mutation_p.V194M	NM_001104647	NP_001098117	Q96CQ1	S2536_HUMAN	solute carrier family 25, member 36 isoform a	220					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						TGAAGAGTCTGTGAAAGAAGC	0.348													A	140692763	G	A	140692763	3	1	47	1	0	0	0	0	1	0	0	0	14500	1377	48	4	680	4	SLC25A36	3	140692763	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	2231294	140692763	57329667	44	37860											
SI	6476	broad.mit.edu	37	chr3	164709261	164709261	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcctctgacgccaatatctTtgccctggaaatgaaaggga	10	10	2	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr3:164709261T>G	uc003fei.2	-	44	5050	c.4988A>C	c.(4987-4989)AAA>ACA	p.K1663T		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1663	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCCAATATCTTTGCCCTGGAA	0.393										HNSCC(35;0.089)			G	164709261	T	G	164709261	3	3	47	1	0	0	0	0	1	0	0	0	14297	1841	64	5	515	5	SI	3	164709261	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	24016498	164709261	33313169	45	37861											
KCNMB2	10242	broad.mit.edu	37	chr3	178546118	178546118	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacttcttccggggaaaagcTcctcctctaccacacagaag	8	14	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr3:178546118T>G	uc003fjd.2	+	4	723	c.380T>G	c.(379-381)CTC>CGC	p.L127R	uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Missense_Mutation_p.L127R|KCNMB2_uc003fjf.2_Missense_Mutation_p.L127R|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_Intron	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	calcium-activated potassium channel beta 2	127	Extracellular (Potential).				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(1)	1	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			GGGGAAAAGCTCCTCCTCTAC	0.483													G	178546118	T	G	178546118	3	3	47	1	0	0	0	0	1	0	0	0	8075	1551	54	5	390	5	KCNMB2	3	178546118	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	13836857	178546118	19476312	46	37862											
ECE2	9718	broad.mit.edu	37	chr3	184009886	184009886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcacaccagagagctctcacGaggggctggtgaccgacccc	13	15	1	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr3:184009886G>A	uc003fni.3	+	19	2550	c.2512G>A	c.(2512-2514)GAG>AAG	p.E838K	ECE2_uc003fnl.3_Missense_Mutation_p.E766K|ECE2_uc003fnm.3_Missense_Mutation_p.E720K|ECE2_uc003fnk.3_Missense_Mutation_p.E691K	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	838	Lumenal (Potential).|Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGCTCTCACGAGGGGCTGGT	0.667													A	184009886	G	A	184009886	3	1	47	1	0	0	0	0	1	0	0	0	4890	1059	37	1	3150	1	ECE2	3	184009886	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	5463768	184009886	14012544	47	37863											
TMEM44	93109	broad.mit.edu	37	chr3	194331653	194331653	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggccactcacctgctgcaCaggctcgatggtcagctcca	10	15	2	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr3:194331653C>A	uc010hzn.2	-	9	1319	c.1150G>T	c.(1150-1152)GTG>TTG	p.V384L	TMEM44_uc010hzm.2_Missense_Mutation_p.V69L|TMEM44_uc003fuc.2_Missense_Mutation_p.V69L|TMEM44_uc003fue.2_Missense_Mutation_p.V337L|TMEM44_uc003fud.2_Missense_Mutation_p.V337L|TMEM44_uc003fuf.2_Missense_Mutation_p.V337L|TMEM44_uc011bsv.1_Missense_Mutation_p.V337L|TMEM44_uc003fuh.1_RNA	NM_001011655	NP_001011655	Q2T9K0	TMM44_HUMAN	transmembrane protein 44 isoform b	384	Cytoplasmic (Potential).					integral to membrane					0	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		ACCTGCTGCACAGGCTCGATG	0.423													A	194331653	C	A	194331653	3	1	47	1	0	0	0	0	1	0	0	0	16165	478	17	5	323	5	TMEM44	3	194331653	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	10321767	194331653	3690777	48	37864											
RGS12	6002	broad.mit.edu	37	chr4	3318204	3318204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgaaggcgtcggccgcttcGaatcctgttccagtgatgaa	12	11	0	3			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr4:3318204G>A	uc003ggw.2	+	2	1211	c.307G>A	c.(307-309)GAA>AAA	p.E103K	RGS12_uc003ggu.2_Missense_Mutation_p.E103K|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.E103K|RGS12_uc003ggx.1_Missense_Mutation_p.E103K	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	103						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGGCCGCTTCGAATCCTGTTC	0.468													A	3318204	G	A	3318204	3	1	47	1	0	0	0	0	1	0	0	0	13295	1059	37	1	309	1	RGS12	4	3318204	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08		3318204	187836072	49	37865											
STK32B	55351	broad.mit.edu	37	chr4	5468557	5468557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcacaaaggacagctgccCgctggtgagtgcttcgtggg	16	10	0	1	rs146908689		TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr4:5468557C>T	uc003gih.1	+	10	1101	c.1037C>T	c.(1036-1038)CCG>CTG	p.P346L	STK32B_uc010ida.1_Missense_Mutation_p.P299L	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	346							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						GACAGCTGCCCGCTGGTGAGT	0.493													T	5468557	C	T	5468557	3	4	47	1	0	0	0	0	1	0	0	0	15297	652	23	1	1075	1	STK32B	4	5468557	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	2150353	5468557	185685719	50	37866											
FRYL	285527	broad.mit.edu	37	chr4	48592824	48592824	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgtctgctattacaaggaaGactctgagacctatgttcat	8	9	3	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr4:48592824G>A	uc003gyh.1	-	17	1964	c.1359C>T	c.(1357-1359)GTC>GTT	p.V453V	FRYL_uc003gyk.2_Silent_p.V453V	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						TTACAAGGAAGACTCTGAGAC	0.368													A	48592824	G	A	48592824	2	1	47	1	0	0	0	0	0	0	0	1	6064	929	33	4		4	FRYL	4	48592824	Silent	SNP	G	TCGA-BR-7197-01A-11D-2201-08	43124267	48592824	142561452	51	37867											
MAPK10	5602	broad.mit.edu	37	chr4	87028500	87028500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaaggacagcatcatacGcggcactgtagagatccaag	11	10	2	1	rs143720396		TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr4:87028500G>A	uc003hpq.2	-	4	309	c.242C>T	c.(241-243)GCG>GTG	p.A81V	MAPK10_uc010ikg.2_Missense_Mutation_p.A43V|MAPK10_uc003hpr.2_Missense_Mutation_p.A43V|MAPK10_uc003hps.2_Missense_Mutation_p.A81V|MAPK10_uc003hpt.2_Missense_Mutation_p.A81V|MAPK10_uc003hpu.2_Missense_Mutation_p.A81V|MAPK10_uc003hpv.2_5'UTR|MAPK10_uc010ikh.1_RNA|MAPK10_uc003hpo.2_5'UTR|MAPK10_uc011ccw.1_5'UTR|MAPK10_uc003hpp.2_5'UTR	NM_138982	NP_620448	P53779	MK10_HUMAN	mitogen-activated protein kinase 10 isoform 2	81	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			stomach(1)|breast(1)|central_nervous_system(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		AGCATCATACGCGGCACTGTA	0.443													A	87028500	G	A	87028500	3	1	47	1	0	0	0	0	1	0	0	0	9272	1087	38	1	1197	1	MAPK10	4	87028500	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	38435676	87028500	104125776	52	37868											
FSTL5	56884	broad.mit.edu	37	chr4	162307513	162307513	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgaggaacgcacttatagtCcttcaagttaattgtcttga	8	8	2	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr4:162307513C>A	uc003iqh.2	-	16	2366	c.1930G>T	c.(1930-1932)GAC>TAC	p.D644Y	FSTL5_uc003iqi.2_Missense_Mutation_p.D643Y|FSTL5_uc010iqv.2_Missense_Mutation_p.D634Y|uc010iqu.1_RNA	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	644						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CACTTATAGTCCTTCAAGTTA	0.403													A	162307513	C	A	162307513	3	1	47	1	0	0	0	0	1	0	0	0	6080	855	30	5	617	5	FSTL5	4	162307513	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	75279013	162307513	28846763	53	37869											
GALNTL6	442117	broad.mit.edu	37	chr4	173730599	173730599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagagaaggactcatccGgacccgtctcctgggggcat	13	11	2	1	rs146548110		TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr4:173730599G>A	uc003isv.2	+	6	1377	c.641G>A	c.(640-642)CGG>CAG	p.R214Q		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	214	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						GGACTCATCCGGACCCGTCTC	0.517													A	173730599	G	A	173730599	3	1	47	1	0	0	0	0	1	0	0	0	6225	1116	39	1	659	1	GALNTL6	4	173730599	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	11423086	173730599	17423677	54	37870											
TUBB4Q	56604	broad.mit.edu	37	chr4	190905444	190905444	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctggcctgaagacctgcccGaagggccccgagcgcacaga	13	15	1	3			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr4:190905444G>A	uc011clg.1	-	3	243	c.240C>T	c.(238-240)TTC>TTT	p.F80F		NM_020040	NP_064424	Q99867	TBB4Q_HUMAN	tubulin, beta polypeptide 4, member Q	81					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)		AGACCTGCCCGAAGGGCCCCG	0.667													A	190905444	G	A	190905444	2	1	47	1	0	0	0	0	0	0	0	1	16756	1049	37	1		1	TUBB4Q	4	190905444	Silent	SNP	G	TCGA-BR-7197-01A-11D-2201-08	17174845	190905444	248832	55	37871											
IRX1	79192	broad.mit.edu	37	chr5	3599410	3599410	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccacacggcgccggcTtattacccctacggccagtt	10	17	0	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr5:3599410T>G	uc003jde.2	+	2	400	c.348T>G	c.(346-348)GCT>GCG	p.A116A		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	116						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						CGGCGCCGGCTTATTACCCCT	0.652													G	3599410	T	G	3599410	2	3	47	1	0	0	0	0	0	0	0	1	7843	1596	56	5		5	IRX1	5	3599410	Silent	SNP	T	TCGA-BR-7197-01A-11D-2201-08		3599410	177315850	56	37872											
ADAMTS16	170690	broad.mit.edu	37	chr5	5239336	5239336	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtgtaacgggaataacTcagcctgcacgattcacagg	13	9	2	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr5:5239336T>C	uc003jdl.2	+	15	2365	c.2227T>C	c.(2227-2229)TCA>CCA	p.S743P	ADAMTS16_uc003jdk.1_Missense_Mutation_p.S743P|ADAMTS16_uc010itk.1_RNA	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	743	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CGGGAATAACTCAGCCTGCAC	0.512													C	5239336	T	C	5239336	3	2	47	1	0	0	0	0	1	0	0	0	261	1551	54	3	2285	3	ADAMTS16	5	5239336	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	1639926	5239336	175675924	57	37873											
TRIO	7204	broad.mit.edu	37	chr5	14504649	14504649	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccagcaccccctgcttgtCggcctcctcgacacctttga	7	19	0	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr5:14504649C>T	uc003jff.2	+	55	8565	c.8559C>T	c.(8557-8559)GTC>GTT	p.V2853V	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2853	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					CCCTGCTTGTCGGCCTCCTCG	0.587													T	14504649	C	T	14504649	2	4	47	1	0	0	0	0	0	0	0	1	16549	871	31	1		1	TRIO	5	14504649	Silent	SNP	C	TCGA-BR-7197-01A-11D-2201-08	9265313	14504649	166410611	58	37874											
IL7R	3575	broad.mit.edu	37	chr5	35876425	35876425	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtaccaggacctcctgcTtagccttgggactacaaaca	9	12	0	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr5:35876425T>G	uc003jjs.2	+	8	1306	c.1217T>G	c.(1216-1218)CTT>CGT	p.L406R	IL7R_uc011cop.1_RNA	NM_002185	NP_002176	P16871	IL7RA_HUMAN	interleukin 7 receptor precursor	406	Cytoplasmic (Potential).				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			ovary(3)|breast(1)|skin(1)	5	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GACCTCCTGCTTAGCCTTGGG	0.532													G	35876425	T	G	35876425	3	3	47	1	0	0	0	0	1	0	0	0	7705	1609	56	5	1247	5	IL7R	5	35876425	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	21371776	35876425	145038835	59	37875											
HCN1	348980	broad.mit.edu	37	chr5	45645353	45645353	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacgcaagagactgagaatTtttgtaaacctcacaatgcg	8	8	1	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr5:45645353T>G	uc003jok.2	-	2	808	c.783A>C	c.(781-783)AAA>AAC	p.K261N		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	261	Helical; Voltage-sensor; Name=Segment S4; (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						GACTGAGAATTTTTGTAAACC	0.343													G	45645353	T	G	45645353	3	3	47	1	0	0	0	0	1	0	0	0	6996	1838	64	5	1917	5	HCN1	5	45645353	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	9768928	45645353	135269907	60	37876											
APC	324	broad.mit.edu	37	chr5	112151261	112151261	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagcacacactctgcacctCgaaggctgacaagtcatctg	9	13	3	1	rs137854568		TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr5:112151261C>T	uc010jby.2	+	9	1284	c.904C>T	c.(904-906)CGA>TGA	p.R302*	APC_uc011cvt.1_Nonsense_Mutation_p.R284*|APC_uc003kpz.3_Nonsense_Mutation_p.R302*|APC_uc003kpy.3_Nonsense_Mutation_p.R302*|APC_uc010jbz.2_Nonsense_Mutation_p.R19*	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	302	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.R302*(10)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTCTGCACCTCGAAGGCTGAC	0.388		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			T	112151261	C	T	112151261	4	4	47	1	0	0	0	0	0	1	0	0	763	876	31	1	934	1	APC	5	112151261	Nonsense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	66505908	112151261	68763999	61	37877											
ZNF474	133923	broad.mit.edu	37	chr5	121488479	121488479	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagccactcccacagaAgcctcagccccttccgaatg	6	20	1	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr5:121488479A>C	uc003ksv.2	+	2	1170	c.794A>C	c.(793-795)AAG>ACG	p.K265T		NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	265						intracellular	zinc ion binding				0		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		CTCCCACAGAAGCCTCAGCCC	0.552													C	121488479	A	C	121488479	3	2	47	1	0	0	0	0	1	0	0	0	17929	72	3	5	796	5	ZNF474	5	121488479	Missense_Mutation	SNP	A	TCGA-BR-7197-01A-11D-2201-08	9337218	121488479	59426781	62	37878											
SLC12A2	6558	broad.mit.edu	37	chr5	127510310	127510310	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggaatatagtaaaaagtccGatttagatacttccaaacca	6	7	0	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr5:127510310G>T	uc003kus.2	+	20	3045	c.2881G>T	c.(2881-2883)GAT>TAT	p.D961Y	SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.D961Y	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	961	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			ovary(3)	3		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TAAAAAGTCCGATTTAGATAC	0.308													T	127510310	G	T	127510310	3	4	47	1	0	0	0	0	1	0	0	0	14383	1058	37	5	2959	5	SLC12A2	5	127510310	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	6021831	127510310	53404950	63	37879											
F13A1	2162	broad.mit.edu	37	chr6	6145969	6145969	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagacccagggccggcacacTtcttcccactgcacggtgga	12	15	1	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr6:6145969T>G	uc003mwv.2	-	15	2205	c.2082A>C	c.(2080-2082)GAA>GAC	p.E694D	F13A1_uc011dib.1_Missense_Mutation_p.K588T	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	694					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GCCGGCACACTTCTTCCCACT	0.537													G	6145969	T	G	6145969	3	3	47	1	0	0	0	0	1	0	0	0	5340	1606	56	5	120	5	F13A1	6	6145969	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08		6145969	164969098	64	37880											
ABCF1	23	broad.mit.edu	37	chr6	30550930	30550930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggcggagatgtcctccCgccaagccatgttagaaaat	10	13	0	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr6:30550930C>T	uc003nql.2	+	10	975	c.880C>T	c.(880-882)CGC>TGC	p.R294C	ABCF1_uc003nqk.2_Missense_Mutation_p.R295C|ABCF1_uc003nqm.2_Missense_Mutation_p.R256C|ABCF1_uc010jsb.2_Intron|MIR877_hsa-mir-877|MI0005561_5'Flank	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F, member 1	294					inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			ovary(2)	2						GATGTCCTCCCGCCAAGCCAT	0.517													T	30550930	C	T	30550930	3	4	47	1	0	0	0	0	1	0	0	0	65	652	23	1	918	1	ABCF1	6	30550930	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	24404961	30550930	140564137	65	37881											
MCCD1	401250	broad.mit.edu	37	chr6	31496954	31496954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatgggaagatgacgtccCctcccagggtaagtggcacc	13	11	0	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr6:31496954C>T	uc003ntp.1	+	1	216	c.163C>T	c.(163-165)CCT>TCT	p.P55S		NM_001011700	NP_001011700	P59942	MCCD1_HUMAN	mitochondrial coiled-coil domain 1 precursor	55						mitochondrion					0						GATGACGTCCCCTCCCAGGGT	0.567													T	31496954	C	T	31496954	3	4	47	1	0	0	0	0	1	0	0	0	9376	623	22	4	165	4	MCCD1	6	31496954	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	946024	31496954	139618113	66	37882											
TNXB	7148	broad.mit.edu	37	chr6	32020588	32020588	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacacgcaccacctggggccGcccgtccctgtccttgtact	10	18	0	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr6:32020588G>T	uc003nzl.2	-	26	9170	c.8968C>A	c.(8968-8970)CGG>AGG	p.R2990R		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3037	Fibronectin type-III 22.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						ACCTGGGGCCGCCCGTCCCTG	0.657													T	32020588	G	T	32020588	2	4	47	1	0	0	0	0	0	0	0	1	16343	1086	38	5		5	TNXB	6	32020588	Silent	SNP	G	TCGA-BR-7197-01A-11D-2201-08	523634	32020588	139094479	67	37883											
FAM83B	222584	broad.mit.edu	37	chr6	54806564	54806564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcattcaactgatcggcGtgtttacagtcgttttgagc	9	9	2	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr6:54806564G>A	uc003pck.2	+	5	2911	c.2795G>A	c.(2794-2796)CGT>CAT	p.R932H		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	932										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					ACTGATCGGCGTGTTTACAGT	0.428													A	54806564	G	A	54806564	3	1	47	1	0	0	0	0	1	0	0	0	5634	1145	40	1	2809	1	FAM83B	6	54806564	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	22785976	54806564	116308503	68	37884											
BAI3	577	broad.mit.edu	37	chr6	70071081	70071081	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagaaagaatgatggaaAgtgactatattgtgatgccc	10	6	1	5			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr6:70071081A>C	uc003pev.3	+	29	4364	c.3916A>C	c.(3916-3918)AGT>CGT	p.S1306R	BAI3_uc010kak.2_Missense_Mutation_p.S1306R|BAI3_uc011dxx.1_Missense_Mutation_p.S512R	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1306	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				AATGATGGAAAGTGACTATAT	0.393													C	70071081	A	C	70071081	3	2	47	1	0	0	0	0	1	0	0	0	1300	72	3	5	4022	5	BAI3	6	70071081	Missense_Mutation	SNP	A	TCGA-BR-7197-01A-11D-2201-08	15264517	70071081	101043986	69	37885											
LMBRD1	55788	broad.mit.edu	37	chr6	70423647	70423647	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttcttcaaattgttttaAggcgcgtttatcccttgctg	7	10	2	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr6:70423647A>C	uc003pfa.2	-	9	920	c.805T>G	c.(805-807)TTA>GTA	p.L269V	LMBRD1_uc003pey.2_Missense_Mutation_p.L65V|LMBRD1_uc003pez.2_Missense_Mutation_p.L196V|LMBRD1_uc010kal.2_Missense_Mutation_p.L196V|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	269	Cytoplasmic (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1						AATTGTTTTAAGGCGCGTTTA	0.383													C	70423647	A	C	70423647	3	2	47	1	0	0	0	0	1	0	0	0	8842	69	3	5	849	5	LMBRD1	6	70423647	Missense_Mutation	SNP	A	TCGA-BR-7197-01A-11D-2201-08	352566	70423647	100691420	70	37886											
FILIP1	27145	broad.mit.edu	37	chr6	76063321	76063321	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtagtcagtgtgtttaTgcttctcgttctctaactcg	8	9	4	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr6:76063321T>A	uc003pia.2	-	4	936	c.563A>T	c.(562-564)CAT>CTT	p.H188L	FILIP1_uc003phy.1_Missense_Mutation_p.H188L|FILIP1_uc003phz.2_Missense_Mutation_p.H89L|FILIP1_uc010kbe.2_Missense_Mutation_p.H191L	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	188										skin(3)|ovary(1)	4						AGTGTGTTTATGCTTCTCGTT	0.517													A	76063321	T	A	76063321	3	1	47	1	0	0	0	0	1	0	0	0	5894	1464	51	5	3090	5	FILIP1	6	76063321	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	5639674	76063321	95051746	71	37887											
PHIP	55023	broad.mit.edu	37	chr6	79664656	79664656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaagactgggctctattacGtaatcttcttctaggctgat	9	8	4	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr6:79664656G>A	uc003pir.2	-	35	4154	c.3928C>T	c.(3928-3930)CGT>TGT	p.R1310C	PHIP_uc003piq.2_Missense_Mutation_p.R334C|PHIP_uc011dyp.1_Missense_Mutation_p.R1309C|PHIP_uc003pio.3_Missense_Mutation_p.R196C	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1310					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GCTCTATTACGTAATCTTCTT	0.328													A	79664656	G	A	79664656	3	1	47	1	0	0	0	0	1	0	0	0	11842	1145	40	1	1561	1	PHIP	6	79664656	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	3601335	79664656	91450411	72	37888											
ASCC3	10973	broad.mit.edu	37	chr6	100960674	100960674	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccatttgttgtcatctcGtttgtctgcagtcagagttg	10	8	4	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr6:100960674G>A	uc003pqk.2	-	40	6525	c.6196C>T	c.(6196-6198)CGA>TGA	p.R2066*		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	2066					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTGTCATCTCGTTTGTCTGCA	0.428													A	100960674	G	A	100960674	4	1	47	1	0	0	0	0	0	1	0	0	1033	1153	40	1	424	1	ASCC3	6	100960674	Nonsense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	21296018	100960674	70154393	73	37889											
FIG4	9896	broad.mit.edu	37	chr6	110064385	110064385	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtctttcactgcaggaAgttattcttcatatgtacaa	7	7	4	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr6:110064385A>C	uc003ptt.2	+	9	1164	c.949A>C	c.(949-951)AGT>CGT	p.S317R	FIG4_uc011eau.1_Intron	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	317	SAC.				cell death	endosome membrane	protein binding			ovary(1)	1		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CACTGCAGGAAGTTATTCTTC	0.398													C	110064385	A	C	110064385	3	2	47	1	0	0	0	0	1	0	0	0	5888	72	3	5	983	5	FIG4	6	110064385	Missense_Mutation	SNP	A	TCGA-BR-7197-01A-11D-2201-08	9103711	110064385	61050682	74	37890											
UTRN	7402	broad.mit.edu	37	chr6	144780063	144780063	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gatgagcttgaaaaggtcatCaagacaaaggaggagtgggt	15	4	2	3			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr6:144780063C>G	uc003qkt.2	+	19	2534	c.2442C>G	c.(2440-2442)ATC>ATG	p.I814M	UTRN_uc010khq.1_Missense_Mutation_p.I814M	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	814	Interaction with SYNM.|Spectrin 6.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAAAGGTCATCAAGACAAAGG	0.418													G	144780063	C	G	144780063	3	3	47	1	0	0	0	0	1	0	0	0	17100	816	29	5	2516	5	UTRN	6	144780063	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	34715678	144780063	26335004	75	37891											
SYNE1	23345	broad.mit.edu	37	chr6	152671358	152671358	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcttgtctccaggaggTcaggtgccaccagtctgcca	13	13	3	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr6:152671358T>A	uc010kiw.2	-	72	12448	c.11846A>T	c.(11845-11847)GAC>GTC	p.D3949V	SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Missense_Mutation_p.D3949V|SYNE1_uc010kja.1_Missense_Mutation_p.D654V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3949	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)		CTCCAGGAGGTCAGGTGCCAC	0.542										HNSCC(10;0.0054)			A	152671358	T	A	152671358	3	1	47	1	0	0	0	0	1	0	0	0	15442	1667	58	5	14920	5	SYNE1	6	152671358	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	7891295	152671358	18443709	76	37892											
FNDC1	84624	broad.mit.edu	37	chr6	159660666	159660666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgagtcttggaggaaagcCgctggtgggcttggaggtca	17	6	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr6:159660666C>T	uc010kjv.2	+	14	4498	c.4298C>T	c.(4297-4299)CCG>CTG	p.P1433L	FNDC1_uc010kjw.1_Missense_Mutation_p.P1318L	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1433						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGAGGAAAGCCGCTGGTGGGC	0.453													T	159660666	C	T	159660666	3	4	47	1	0	0	0	0	1	0	0	0	5968	652	23	1	4352	1	FNDC1	6	159660666	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	6989308	159660666	11454401	77	37893											
C7orf27	221927	broad.mit.edu	37	chr7	2578824	2578824	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acctcctacctgccgggcctCtgcatgctcagggctggtgg	13	15	2	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr7:2578824C>T	uc003smi.2	-	13	1801	c.1759G>A	c.(1759-1761)GAG>AAG	p.E587K	C7orf27_uc003smh.3_Missense_Mutation_p.E19K	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	587					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		TGCCGGGCCTCTGCATGCTCA	0.672													T	2578824	C	T	2578824	3	4	47	1	0	0	0	0	1	0	0	0	2382	922	32	4	714	4	C7orf27	7	2578824	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08		2578824	156559839	78	37894											
DGKB	1607	broad.mit.edu	37	chr7	14724974	14724974	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcgccacacgtgctgtccaTcatccttcacgttctgcatg	8	15	3	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr7:14724974T>G	uc003ssz.2	-	9	912	c.725A>C	c.(724-726)GAT>GCT	p.D242A	DGKB_uc011jxt.1_Missense_Mutation_p.D235A|DGKB_uc003sta.2_Missense_Mutation_p.D242A|DGKB_uc011jxu.1_Missense_Mutation_p.D242A|DGKB_uc011jxv.1_Missense_Mutation_p.D242A	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	242					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)	GTGCTGTCCATCATCCTTCAC	0.463													G	14724974	T	G	14724974	3	3	47	1	0	0	0	0	1	0	0	0	4466	1435	50	5	1772	5	DGKB	7	14724974	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	12146150	14724974	144413689	79	37895											
STK31	56164	broad.mit.edu	37	chr7	23871800	23871800	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagcttgatatgttatagaAgttcaatgactgctgaacaa	9	5	1	4			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr7:23871800A>C	uc003sws.3	+	24	2942	c.2875A>C	c.(2875-2877)AGT>CGT	p.S959R	STK31_uc003swt.3_Missense_Mutation_p.S936R|STK31_uc011jze.1_Missense_Mutation_p.S936R|STK31_uc010kuq.2_Missense_Mutation_p.S936R|STK31_uc003swv.1_Missense_Mutation_p.S125R	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	959	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						ATGTTATAGAAGTTCAATGAC	0.358													C	23871800	A	C	23871800	3	2	47	1	0	0	0	0	1	0	0	0	15295	72	3	5	2969	5	STK31	7	23871800	Missense_Mutation	SNP	A	TCGA-BR-7197-01A-11D-2201-08	9146826	23871800	135266863	80	37896											
NFE2L3	9603	broad.mit.edu	37	chr7	26224983	26224983	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttctgtagatgaaattgtCggcatgcctgttgattcttt	9	6	2	3			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr7:26224983C>T	uc003sxq.2	+	4	1937	c.1665C>T	c.(1663-1665)GTC>GTT	p.V555V		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	nuclear factor erythroid 2-like 3	555					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			skin(3)|ovary(1)	4						ATGAAATTGTCGGCATGCCTG	0.393													T	26224983	C	T	26224983	2	4	47	1	0	0	0	0	0	0	0	1	10369	871	31	1		1	NFE2L3	7	26224983	Silent	SNP	C	TCGA-BR-7197-01A-11D-2201-08	2353183	26224983	132913680	81	37897											
ABCA13	154664	broad.mit.edu	37	chr7	48559811	48559811	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaactttctgggctggatcTtcgtgcaactggcctcgcag	12	11	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr7:48559811T>A	uc003toq.2	+	53	13997	c.13972T>A	c.(13972-13974)TTC>ATC	p.F4658I	ABCA13_uc010kys.1_Missense_Mutation_p.F1733I|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.F388I	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4658	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GGGCTGGATCTTCGTGCAACT	0.502													A	48559811	T	A	48559811	3	1	47	1	0	0	0	0	1	0	0	0	31	1609	56	5	14011	5	ABCA13	7	48559811	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	22334828	48559811	110578852	82	37898											
STX1A	6804	broad.mit.edu	37	chr7	73122931	73122931	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acactcactctcatcggggtTgggggatgccaggatggcac	14	11	2	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr7:73122931T>G	uc003tyx.2	-	3	223	c.196A>C	c.(196-198)AAC>CAC	p.N66H	STX1A_uc003tyy.2_Missense_Mutation_p.N66H|STX1A_uc010lbj.1_Missense_Mutation_p.N66H|hsa-mir-4284|MI0015893_5'Flank	NM_004603	NP_004594	Q16623	STX1A_HUMAN	syntaxin 1A isoform 1	66	Cytoplasmic (Potential).				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				TCATCGGGGTTGGGGGATGCC	0.637													G	73122931	T	G	73122931	3	3	47	1	0	0	0	0	1	0	0	0	15342	1812	63	5	702	5	STX1A	7	73122931	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	24563120	73122931	86015732	83	37899											
PCLO	27445	broad.mit.edu	37	chr7	82544655	82544655	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagaagtcatatagcttgaaTaatcaggttcaaggtctcta	8	6	4	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr7:82544655T>G	uc003uhx.2	-	7	12936	c.12647A>C	c.(12646-12648)TAT>TCT	p.Y4216S	PCLO_uc003uhv.2_Missense_Mutation_p.Y4216S|PCLO_uc010lec.2_Missense_Mutation_p.Y1181S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4147					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ATAGCTTGAATAATCAGGTTC	0.358													G	82544655	T	G	82544655	3	3	47	1	0	0	0	0	1	0	0	0	11583	1406	49	5	2874	5	PCLO	7	82544655	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	9421724	82544655	76594008	84	37900											
PCLO	27445	broad.mit.edu	37	chr7	82544697	82544697	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttcttgaataggtgaaaatTttgacattttagggtcaatt	8	3	2	3			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr7:82544697T>A	uc003uhx.2	-	7	12894	c.12605A>T	c.(12604-12606)AAA>ATA	p.K4202I	PCLO_uc003uhv.2_Missense_Mutation_p.K4202I|PCLO_uc010lec.2_Missense_Mutation_p.K1167I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4133					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AGGTGAAAATTTTGACATTTT	0.383													A	82544697	T	A	82544697	3	1	47	1	0	0	0	0	1	0	0	0	11583	1841	64	5	2916	5	PCLO	7	82544697	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	42	82544697	76593966	85	37901											
PCLO	27445	broad.mit.edu	37	chr7	82581838	82581838	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctgcacccactaggctttCtgtgcctgtagtgtaacttg	9	11	2	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr7:82581838C>T	uc003uhx.2	-	5	8720	c.8431G>A	c.(8431-8433)GAA>AAA	p.E2811K	PCLO_uc003uhv.2_Missense_Mutation_p.E2811K|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2742					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ACTAGGCTTTCTGTGCCTGTA	0.473													T	82581838	C	T	82581838	3	4	47	1	0	0	0	0	1	0	0	0	11583	922	32	4	7098	4	PCLO	7	82581838	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	37141	82581838	76556825	86	37902											
SAMD9	54809	broad.mit.edu	37	chr7	92733880	92733880	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttctctttgccaggaacTtggatcaaagggtttatatt	8	7	3	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr7:92733880T>G	uc003umf.2	-	3	1787	c.1531A>C	c.(1531-1533)AGT>CGT	p.S511R	SAMD9_uc003umg.2_Missense_Mutation_p.S511R	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	511						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCCAGGAACTTGGATCAAAG	0.388													G	92733880	T	G	92733880	3	3	47	1	0	0	0	0	1	0	0	0	13826	1609	56	5	3242	5	SAMD9	7	92733880	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	10152042	92733880	66404783	87	37903											
SGCE	8910	broad.mit.edu	37	chr7	94257572	94257572	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggacccatataggactccaTcactatatggtgtcctttgg	10	10	1	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr7:94257572T>C	uc003unl.2	-	3	443	c.332A>G	c.(331-333)GAT>GGT	p.D111G	SGCE_uc003unm.2_Missense_Mutation_p.D111G|SGCE_uc003unn.2_Missense_Mutation_p.D111G|SGCE_uc011kic.1_Missense_Mutation_p.D70G|SGCE_uc011kid.1_Missense_Mutation_p.D147G	NM_003919	NP_003910	O43556	SGCE_HUMAN	sarcoglycan, epsilon isoform 2	111	Extracellular (Potential).				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(1)	1	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TAGGACTCCATCACTATATGG	0.388													C	94257572	T	C	94257572	3	2	47	1	0	0	0	0	1	0	0	0	14202	1435	50	3	1169	3	SGCE	7	94257572	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	1523692	94257572	64881091	88	37904											
DYNC1I1	1780	broad.mit.edu	37	chr7	95709704	95709704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagtgtggccattgagggGgcatccgccctaaaccgtgt	14	11	0	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr7:95709704G>A	uc003uoc.3	+	16	2008	c.1731G>A	c.(1729-1731)GGG>GGA	p.G577G	DYNC1I1_uc003uod.3_Silent_p.G560G|DYNC1I1_uc003uob.2_Silent_p.G540G|DYNC1I1_uc003uoe.3_Silent_p.G557G|DYNC1I1_uc010lfl.2_Silent_p.G566G	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	577	WD 7.				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CCATTGAGGGGGCATCCGCCC	0.453													A	95709704	G	A	95709704	2	1	47	1	0	0	0	0	0	0	0	1	4842	1219	43	4		4	DYNC1I1	7	95709704	Silent	SNP	G	TCGA-BR-7197-01A-11D-2201-08	1452132	95709704	63428959	89	37905											
RELN	5649	broad.mit.edu	37	chr7	103322678	103322678	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttcatttccatggaaatAaatggagttcccatctgact	7	10	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr7:103322678A>G	uc003vca.2	-	11	1334	c.1174T>C	c.(1174-1176)TAT>CAT	p.Y392H	RELN_uc010liz.2_Missense_Mutation_p.Y392H	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	392					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCATGGAAATAAATGGAGTTC	0.433													G	103322678	A	G	103322678	3	3	47	1	0	0	0	0	1	0	0	0	13220	362	13	3	9428	3	RELN	7	103322678	Missense_Mutation	SNP	A	TCGA-BR-7197-01A-11D-2201-08	7612974	103322678	55815985	90	37906											
C7orf58	79974	broad.mit.edu	37	chr7	120770266	120770266	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaaatcctggctcagtcCtgacccaatactggtctctt	9	12	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr7:120770266C>T	uc003vjq.3	+	12	1942	c.1495C>T	c.(1495-1497)CTG>TTG	p.L499L	C7orf58_uc003vjr.1_Silent_p.L499L|C7orf58_uc003vjs.3_Silent_p.L499L|C7orf58_uc003vjt.3_Silent_p.L279L|C7orf58_uc010lkk.1_Silent_p.L279L	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	499						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					TGGCTCAGTCCTGACCCAATA	0.403													T	120770266	C	T	120770266	2	4	47	1	0	0	0	0	0	0	0	1	2405	680	24	4		4	C7orf58	7	120770266	Silent	SNP	C	TCGA-BR-7197-01A-11D-2201-08	17447588	120770266	38368397	91	37907											
C7orf58	79974	broad.mit.edu	37	chr7	120781020	120781020	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgacaattggagtggaaacTcctaagtgtctgtgcaaggt	13	6	1	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr7:120781020T>C	uc003vjq.3	+	15	2286	c.1839T>C	c.(1837-1839)ACT>ACC	p.T613T	C7orf58_uc003vjs.3_Silent_p.T613T|C7orf58_uc003vjt.3_Silent_p.T393T	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	613						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					GAGTGGAAACTCCTAAGTGTC	0.443													C	120781020	T	C	120781020	2	2	47	1	0	0	0	0	0	0	0	1	2405	1538	54	3		3	C7orf58	7	120781020	Silent	SNP	T	TCGA-BR-7197-01A-11D-2201-08	10754	120781020	38357643	92	37908											
C7orf58	79974	broad.mit.edu	37	chr7	120876819	120876819	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgggttacagcctattTcttctgactacattgaagcc	8	11	2	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr7:120876819T>C	uc003vjq.3	+	17	2554	c.2107T>C	c.(2107-2109)TCT>CCT	p.S703P	C7orf58_uc003vjs.3_Missense_Mutation_p.S703P|C7orf58_uc003vjt.3_Missense_Mutation_p.S483P	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	703						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					ACAGCCTATTTCTTCTGACTA	0.358													C	120876819	T	C	120876819	3	2	47	1	0	0	0	0	1	0	0	0	2405	1783	62	3	2169	3	C7orf58	7	120876819	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	95799	120876819	38261844	93	37909											
ABCF2	10061	broad.mit.edu	37	chr7	150920882	150920882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccctcatctctgccttgtCggcatccagctcctccaggc	9	18	2	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr7:150920882C>T	uc003wjp.2	-	5	715	c.604G>A	c.(604-606)GAC>AAC	p.D202N	ABCF2_uc003wjo.1_Missense_Mutation_p.D202N	NM_007189	NP_009120	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F, member 2	202	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTGCCTTGTCGGCATCCAGC	0.592													T	150920882	C	T	150920882	3	4	47	1	0	0	0	0	1	0	0	0	66	884	31	1	1352	1	ABCF2	7	150920882	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	30044063	150920882	8217781	94	37910											
UBE3C	9690	broad.mit.edu	37	chr7	157000610	157000610	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catacagatggaacagaaaaGatggattcagttatttaagg	10	4	1	3			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr7:157000610G>A	uc010lqs.2	+	13	2102	c.1790G>A	c.(1789-1791)AGA>AAA	p.R597K	UBE3C_uc003wng.2_Missense_Mutation_p.R597K	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	597					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(2)|large_intestine(1)	5		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GAACAGAAAAGATGGATTCAG	0.328													A	157000610	G	A	157000610	3	1	47	1	0	0	0	0	1	0	0	0	16878	942	33	4	1840	4	UBE3C	7	157000610	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	6079728	157000610	2138053	95	37911											
ELP3	55140	broad.mit.edu	37	chr8	27967928	27967929	+	Frame_Shift_Ins	INS	-	-	CCTA													gtgccagatatgaccctttcINSctacagacaagacaccgaat							TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr8:27967927_27967928T>TCCTA	uc003xgo.4	+	5	582_583	c.434_435T>TCCTA	c.(433-435)ttcfs	p.F145fs	ELP3_uc003xgn.4_Frame_Shift_Ins_p.F130fs|ELP3_uc011las.2_Frame_Shift_Ins_p.F26fs|ELP3_uc011lat.2_Frame_Shift_Ins_p.F26fs|ELP3_uc011laq.2_Frame_Shift_Ins_p.F73fs|ELP3_uc011lar.2_Frame_Shift_Ins_p.F53fs	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA.	145					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TATGACCCTTTCCTACAGACAA	0.337													CCTA	27967929	-	CCTA	27967928	7	5	47	1	0	1	1	0	0	0	0	0	5081	854	30	0	457	0	ELP3	8	27967928	Frame_Shift_Ins	INS	-	TCGA-BR-7197-01A-11D-2201-08		27967928	118396094	96	37912											
UNC5D	137970	broad.mit.edu	37	chr8	35541239	35541239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtcggccactgttgtgGtctacggtaagaccattcca	11	12	1	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr8:35541239G>A	uc003xjr.1	+	5	1073	c.745G>A	c.(745-747)GTC>ATC	p.V249I	UNC5D_uc003xjs.1_Missense_Mutation_p.V244I|UNC5D_uc003xjt.1_Missense_Mutation_p.V18I	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	249	Extracellular (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CACTGTTGTGGTCTACGGTAA	0.512													A	35541239	G	A	35541239	3	1	47	1	0	0	0	0	1	0	0	0	16992	1261	44	4	763	4	UNC5D	8	35541239	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	7573311	35541239	110822783	97	37913											
IDO2	169355	broad.mit.edu	37	chr8	39871157	39871157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagcccctgaaatactccGgcgggagtgcagctcagagc	13	12	1	3			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr8:39871157G>A	uc010lwy.1	+	10	1074	c.832G>A	c.(832-834)GGC>AGC	p.G278S	IDO2_uc003xno.1_RNA|IDO2_uc010lwz.1_Missense_Mutation_p.G19S|IDO2_uc003xnp.1_Missense_Mutation_p.G19S	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	indoleamine-pyrrole 2,3 dioxygenase-like 1	265					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			ovary(2)	2						GAAATACTCCGGCGGGAGTGC	0.478													A	39871157	G	A	39871157	3	1	47	1	0	0	0	0	1	0	0	0	7502	1116	39	1	870	1	IDO2	8	39871157	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	4329918	39871157	106492865	98	37914											
MYST3	7994	broad.mit.edu	37	chr8	41906165	41906165	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttgagccaccagactctgCcaagccctcaactgcccgct	8	17	2	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr8:41906165C>A	uc010lxb.2	-	3	875	c.331G>T	c.(331-333)GCA>TCA	p.A111S	MYST3_uc010lxc.2_Missense_Mutation_p.A111S|MYST3_uc003xon.3_Missense_Mutation_p.A111S|MYST3_uc010lxd.2_Missense_Mutation_p.A111S	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	111	H15.|Required for activation of RUNX1-1.|Required for nuclear localization.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CCAGACTCTGCCAAGCCCTCA	0.448													A	41906165	C	A	41906165	3	1	47	1	0	0	0	0	1	0	0	0	10104	739	26	5	5747	5	MYST3	8	41906165	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	2035008	41906165	104457857	99	37915											
PXDNL	137902	broad.mit.edu	37	chr8	52384785	52384785	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctcaggtttggggtttccTtccgcccggcaggtgaagta	13	10	1	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr8:52384785T>G	uc003xqu.3	-	8	875	c.774A>C	c.(772-774)GAA>GAC	p.E258D		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	258	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGGGGTTTCCTTCCGCCCGGC	0.443													G	52384785	T	G	52384785	3	3	47	1	0	0	0	0	1	0	0	0	12848	1606	56	5	3681	5	PXDNL	8	52384785	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	10478620	52384785	93979237	100	37916											
TTPA	7274	broad.mit.edu	37	chr8	63976767	63976767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatatattttactcacccGttccttaattttttcagtca	3	9	3	1	rs35916840	byFrequency	TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr8:63976767G>A	uc003xux.1	-	4	693	c.661C>T	c.(661-663)CGG>TGG	p.R221W		NM_000370	NP_000361	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	221	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding				0	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	TTACTCACCCGTTCCTTAATT	0.368													A	63976767	G	A	63976767	3	1	47	1	0	0	0	0	1	0	0	0	16733	1144	40	1	183	1	TTPA	8	63976767	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	11591982	63976767	82387255	101	37917											
POP1	10940	broad.mit.edu	37	chr8	99170065	99170065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatctgtgtcccagccaagGaggacttcctccagctccat	9	14	1	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr8:99170065G>A	uc003yij.3	+	16	2741	c.2641G>A	c.(2641-2643)GAG>AAG	p.E881K	POP1_uc011lgv.1_Missense_Mutation_p.E881K|POP1_uc003yik.2_Missense_Mutation_p.E881K	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	881					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CCCAGCCAAGGAGGACTTCCT	0.552													A	99170065	G	A	99170065	3	1	47	1	0	0	0	0	1	0	0	0	12251	1175	41	4	2699	4	POP1	8	99170065	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	35193298	99170065	47193957	102	37918											
TM7SF4	81501	broad.mit.edu	37	chr8	105361682	105361682	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtttttcctccccatacTtatccatctctgcatctggg	6	14	2	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr8:105361682T>G	uc003ylx.1	+	2	951	c.902T>G	c.(901-903)CTT>CGT	p.L301R		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	301	Helical; (Potential).				osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTCCCCATACTTATCCATCTC	0.473													G	105361682	T	G	105361682	3	3	47	1	0	0	0	0	1	0	0	0	15973	1609	56	5	904	5	TM7SF4	8	105361682	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	6191617	105361682	41002340	103	37919											
KCNV1	27012	broad.mit.edu	37	chr8	110986309	110986309	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacgcctgcgagctgcggtcGaagaagtactcgttgtccac	12	12	0	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr8:110986309G>A	uc003ynr.3	-	1	651	c.309C>T	c.(307-309)TTC>TTT	p.F103F	KCNV1_uc010mcw.2_Silent_p.F103F	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	103	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AGCTGCGGTCGAAGAAGTACT	0.662													A	110986309	G	A	110986309	2	1	47	1	0	0	0	0	0	0	0	1	8094	1049	37	1		1	KCNV1	8	110986309	Silent	SNP	G	TCGA-BR-7197-01A-11D-2201-08	5624627	110986309	35377713	104	37920											
KCNQ3	3786	broad.mit.edu	37	chr8	133187703	133187703	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggtagtgactcaccagGccccaccacagggcatctgc	10	16	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr8:133187703G>A	uc003ytj.2	-	5	1155	c.930C>T	c.(928-930)GGC>GGT	p.G310G	KCNQ3_uc010mdt.2_Silent_p.G310G	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	310			G -> V (in EBN2; about 50% reduction of wild-type heteromeric current; ratio of 1:1; or 20%; ratio of 1:1:2).		axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GACTCACCAGGCCCCACCACA	0.527													A	133187703	G	A	133187703	2	1	47	1	0	0	0	0	0	0	0	1	8084	1190	42	2		2	KCNQ3	8	133187703	Silent	SNP	G	TCGA-BR-7197-01A-11D-2201-08	22201394	133187703	13176319	105	37921											
ARHGAP39	80728	broad.mit.edu	37	chr8	145772550	145772550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctctggtgaggccaggttGgtctgcacggagacgctctt	16	10	3	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr8:145772550G>A	uc003zdt.1	-	6	2475	c.1920C>T	c.(1918-1920)ACC>ACT	p.T640T	ARHGAP39_uc011llk.1_Silent_p.T640T|ARHGAP39_uc003zds.1_Silent_p.T640T	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	640					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						AGGCCAGGTTGGTCTGCACGG	0.657													A	145772550	G	A	145772550	2	1	47	1	0	0	0	0	0	0	0	1	884	1335	47	4		4	ARHGAP39	8	145772550	Silent	SNP	G	TCGA-BR-7197-01A-11D-2201-08	12584847	145772550	591472	106	37922											
NPR2	4882	broad.mit.edu	37	chr9	35800105	35800105	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacaggaaggaggcacccgGgaggatggacttcgaattgt	15	7	0	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr9:35800105G>A	uc003zyd.2	+	4	1074	c.1074G>A	c.(1072-1074)CGG>CGA	p.R358R	NPR2_uc010mlb.2_Silent_p.R358R	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	358	Extracellular (Potential).				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			ovary(2)|stomach(1)	3	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GAGGCACCCGGGAGGATGGAC	0.512													A	35800105	G	A	35800105	2	1	47	1	0	0	0	0	0	0	0	1	10595	1219	43	4		4	NPR2	9	35800105	Silent	SNP	G	TCGA-BR-7197-01A-11D-2201-08		35800105	105413326	107	37923											
C9orf102	375748	broad.mit.edu	37	chr9	98685633	98685633	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgcagcctttgaaacactttCtgaccctaaatacagtggaa	7	10	1	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr9:98685633C>G	uc004avt.3	+	9	1926	c.1538C>G	c.(1537-1539)TCT>TGT	p.S513C	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Missense_Mutation_p.S215C|C9orf102_uc010mry.1_Missense_Mutation_p.S215C|C9orf102_uc010mrz.2_Missense_Mutation_p.S324C|C9orf102_uc004avu.2_5'UTR	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	513					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				GAAACACTTTCTGACCCTAAA	0.303													G	98685633	C	G	98685633	3	3	47	1	0	0	0	0	1	0	0	0	2445	913	32	5	1572	5	C9orf102	9	98685633	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	62885528	98685633	42527798	108	37924											
GARNL3	84253	broad.mit.edu	37	chr9	130147318	130147318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgcagtctgtgctttccCgtatctcctggccttcacca	7	16	3	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr9:130147318C>T	uc011mae.1	+	24	2683	c.2282C>T	c.(2281-2283)CCG>CTG	p.P761L	GARNL3_uc011mad.1_Missense_Mutation_p.P739L|GARNL3_uc010mxi.2_5'UTR	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	761	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						TGTGCTTTCCCGTATCTCCTG	0.617													T	130147318	C	T	130147318	3	4	47	1	0	0	0	0	1	0	0	0	6241	652	23	1	2376	1	GARNL3	9	130147318	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	31461685	130147318	11066113	109	37925											
FUBP3	8939	broad.mit.edu	37	chr9	133498194	133498194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgaggattcagtttaaaCcaggtgggtatgatgattta	13	3	1	3			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr9:133498194C>T	uc004bzr.1	+	10	979	c.871C>T	c.(871-873)CCA>TCA	p.P291S	FUBP3_uc010mzd.1_Missense_Mutation_p.P231S|FUBP3_uc004bzs.1_Missense_Mutation_p.P204S	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	291	KH 3.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		TCAGTTTAAACCAGGTGGGTA	0.368													T	133498194	C	T	133498194	3	4	47	1	0	0	0	0	1	0	0	0	6093	507	18	4	909	4	FUBP3	9	133498194	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	3350876	133498194	7715237	110	37926											
CAMK1D	57118	broad.mit.edu	37	chr10	12803037	12803037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatccgccaagtcttggaCgccgtgtactatctccacag	9	14	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr10:12803037C>T	uc001ilo.2	+	4	625	c.390C>T	c.(388-390)GAC>GAT	p.D130D	CAMK1D_uc001iln.2_Silent_p.D130D	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	130	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)|stomach(1)	2				GBM - Glioblastoma multiforme(1;3.16e-05)		AAGTCTTGGACGCCGTGTACT	0.557													T	12803037	C	T	12803037	2	4	47	1	0	0	0	0	0	0	0	1	2597	535	19	1		1	CAMK1D	10	12803037	Silent	SNP	C	TCGA-BR-7197-01A-11D-2201-08		12803037	122731710	111	37927											
CUBN	8029	broad.mit.edu	37	chr10	17126401	17126401	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgagtgaaaggcccagacaActcaggcaagaagagttcac	12	9	2	5			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr10:17126401A>C	uc001ioo.2	-	17	2222	c.2170T>G	c.(2170-2172)TTG>GTG	p.L724V		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	724	CUB 3.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGCCCAGACAACTCAGGCAAG	0.517													C	17126401	A	C	17126401	3	2	47	1	0	0	0	0	1	0	0	0	4051	40	2	5	8905	5	CUBN	10	17126401	Missense_Mutation	SNP	A	TCGA-BR-7197-01A-11D-2201-08	4323364	17126401	118408346	112	37928											
MYO3A	53904	broad.mit.edu	37	chr10	26463195	26463195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgagacagtcaaagagagGcaagttgaaccagtgacaca	11	8	1	4			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr10:26463195G>A	uc001isn.2	+	30	4362	c.4002G>A	c.(4000-4002)AGG>AGA	p.R1334R	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1334					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						TCAAAGAGAGGCAAGTTGAAC	0.502													A	26463195	G	A	26463195	2	1	47	1	0	0	0	0	0	0	0	1	10076	1194	42	2		2	MYO3A	10	26463195	Silent	SNP	G	TCGA-BR-7197-01A-11D-2201-08	9336794	26463195	109071552	113	37929											
KIAA1462	57608	broad.mit.edu	37	chr10	30318057	30318057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtatgagggcggaggcacGtacactggaggttccaatcc	14	10	0	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr10:30318057G>A	uc001iux.2	-	2	1079	c.1020C>T	c.(1018-1020)TAC>TAT	p.Y340Y	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.Y202Y|KIAA1462_uc009xle.1_Silent_p.Y340Y	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	340	Pro-rich.									ovary(4)	4						GCGGAGGCACGTACACTGGAG	0.587													A	30318057	G	A	30318057	2	1	47	1	0	0	0	0	0	0	0	1	8234	1140	40	1		1	KIAA1462	10	30318057	Silent	SNP	G	TCGA-BR-7197-01A-11D-2201-08	3854862	30318057	105216690	114	37930											
SAMD8	142891	broad.mit.edu	37	chr10	76935972	76935972	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgaatttctttgtcaccgAatgtaagtatctttttagtg	8	6	3	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr10:76935972A>T	uc001jwx.1	+	5	1044	c.941A>T	c.(940-942)GAA>GTA	p.E314V	SAMD8_uc001jwy.1_Missense_Mutation_p.E314V	NM_144660	NP_653261	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	314					sphingomyelin biosynthetic process	integral to membrane					0	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTTGTCACCGAATGTAAGTAT	0.453													T	76935972	A	T	76935972	3	4	47	1	0	0	0	0	1	0	0	0	13825	246	9	5	955	5	SAMD8	10	76935972	Missense_Mutation	SNP	A	TCGA-BR-7197-01A-11D-2201-08	46617915	76935972	58598775	115	37931											
TLL2	7093	broad.mit.edu	37	chr10	98192670	98192670	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagagaaggtcttggctgcGgcatgcaaggtcccagggct	17	9	1	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr10:98192670G>A	uc001kml.1	-	4	640	c.414C>T	c.(412-414)GCC>GCT	p.A138A	TLL2_uc009xvf.1_Intron	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	138					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TCTTGGCTGCGGCATGCAAGG	0.552													A	98192670	G	A	98192670	2	1	47	1	0	0	0	0	0	0	0	1	15943	1103	39	1		1	TLL2	10	98192670	Silent	SNP	G	TCGA-BR-7197-01A-11D-2201-08	21256698	98192670	37342077	116	37932											
RRP12	23223	broad.mit.edu	37	chr10	99116858	99116858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggccctgggcctcagggtCgacgatcctttctgcggttt	15	12	2	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr10:99116858C>T	uc001knf.2	-	34	4026	c.3887G>A	c.(3886-3888)CGA>CAA	p.R1296Q	RRP12_uc001kne.2_Missense_Mutation_p.R311Q|RRP12_uc009xvl.2_Missense_Mutation_p.R413Q|RRP12_uc009xvm.2_Missense_Mutation_p.R1014Q|RRP12_uc010qou.1_Missense_Mutation_p.R1235Q|RRP12_uc009xvn.2_Missense_Mutation_p.R1196Q	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	1296						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GCCTCAGGGTCGACGATCCTT	0.622													T	99116858	C	T	99116858	3	4	47	1	0	0	0	0	1	0	0	0	13686	884	31	1	10	1	RRP12	10	99116858	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	924188	99116858	36417889	117	37933											
RRP12	23223	broad.mit.edu	37	chr10	99133605	99133605	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgccactggagtgtgtcGtagatcttagattccactgt	10	10	1	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr10:99133605G>A	uc001knf.2	-	16	1984	c.1845C>T	c.(1843-1845)TAC>TAT	p.Y615Y	RRP12_uc009xvl.2_5'Flank|RRP12_uc009xvm.2_Silent_p.Y333Y|RRP12_uc010qou.1_Silent_p.Y554Y|RRP12_uc009xvn.2_Silent_p.Y515Y	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	615						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGAGTGTGTCGTAGATCTTAG	0.607													A	99133605	G	A	99133605	2	1	47	1	0	0	0	0	0	0	0	1	13686	1140	40	1		1	RRP12	10	99133605	Silent	SNP	G	TCGA-BR-7197-01A-11D-2201-08	16747	99133605	36401142	118	37934											
PDCD11	22984	broad.mit.edu	37	chr10	105172893	105172893	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagggcctgcatcctttgCgtccatcctcgaaccagagt	11	13	0	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr10:105172893C>T	uc001kwy.1	+	9	1086	c.999C>T	c.(997-999)TGC>TGT	p.C333C		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	333	S1 motif 3.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GCATCCTTTGCGTCCATCCTC	0.597													T	105172893	C	T	105172893	2	4	47	1	0	0	0	0	0	0	0	1	11617	776	27	1		1	PDCD11	10	105172893	Silent	SNP	C	TCGA-BR-7197-01A-11D-2201-08	6039288	105172893	30361854	119	37935											
GPR26	2849	broad.mit.edu	37	chr10	125426323	125426323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctacacgtggctgcacGcgctcaccttcccagccgcc	10	19	1	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr10:125426323G>A	uc001lhh.2	+	1	453	c.400G>A	c.(400-402)GCG>ACG	p.A134T		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	134	Helical; Name=4; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GTGGCTGCACGCGCTCACCTT	0.716													A	125426323	G	A	125426323	3	1	47	1	0	0	0	0	1	0	0	0	6684	1087	38	1	402	1	GPR26	10	125426323	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	20253430	125426323	10108424	120	37936											
LRRC27	80313	broad.mit.edu	37	chr10	134165209	134165209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagagagccgagcggcggCgctccgagagctccaggaga	18	11	0	3			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr10:134165209C>T	uc010quw.1	+	7	1220	c.1025C>T	c.(1024-1026)GCG>GTG	p.A342V	LRRC27_uc001llf.2_Missense_Mutation_p.R374C|LRRC27_uc010quv.1_Missense_Mutation_p.A342V|LRRC27_uc001llg.2_RNA|LRRC27_uc001lli.2_Missense_Mutation_p.A342V|LRRC27_uc001llj.2_Missense_Mutation_p.A280V|LRRC27_uc001llk.3_Missense_Mutation_p.A215V	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27 isoform a	342	Potential.									ovary(1)	1		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CGAGCGGCGGCGCTCCGAGAG	0.622													T	134165209	C	T	134165209	3	4	47	1	0	0	0	0	1	0	0	0	8981	768	27	1	1146	1	LRRC27	10	134165209	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	8738886	134165209	1369538	121	37937											
PAOX	196743	broad.mit.edu	37	chr10	135204907	135204907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatggagggaggccgaccGcctcctcagtctgtgggccc	17	13	2	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr10:135204907G>A	uc001lmv.2	+	7	1564	c.1484G>A	c.(1483-1485)CGC>CAC	p.R495H	PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Silent_p.P442P|PAOX_uc001lmy.2_3'UTR|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA|MTG1_uc001lnd.2_5'Flank	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	polyamine oxidase isoform 1	633					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GAGGCCGACCGCCTCCTCAGT	0.662													A	135204907	G	A	135204907	3	1	47	1	0	0	0	0	1	0	0	0	11423	1087	38	1	1510	1	PAOX	10	135204907	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	1039698	135204907	329840	122	37938											
OR51D1	390038	broad.mit.edu	37	chr11	4661487	4661487	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacagggtgtactgtggccaAgattggactatctgccctga	13	9	1	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr11:4661487A>T	uc010qyk.1	+	1	467	c.467A>T	c.(466-468)AAG>ATG	p.K156M		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D,	156	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTGTGGCCAAGATTGGACTA	0.537													T	4661487	A	T	4661487	3	4	47	1	0	0	0	0	1	0	0	0	11093	72	3	5	469	5	OR51D1	11	4661487	Missense_Mutation	SNP	A	TCGA-BR-7197-01A-11D-2201-08		4661487	130345029	123	37939											
OR52J3	119679	broad.mit.edu	37	chr11	5068233	5068233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcccgttttacttacacttCccatggtctatcttatctac	4	13	3	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr11:5068233C>T	uc010qyv.1	+	1	478	c.478C>T	c.(478-480)CCC>TCC	p.P160S		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J,	160	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|lung(1)|skin(1)	3		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTTACACTTCCCATGGTCTA	0.468													T	5068233	C	T	5068233	3	4	47	1	0	0	0	0	1	0	0	0	11122	855	30	4	480	4	OR52J3	11	5068233	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	406746	5068233	129938283	124	37940											
OR52E4	390081	broad.mit.edu	37	chr11	5905690	5905690	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgatcaaaactgaacatagTctacaccagcccatgttcta	6	11	3	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr11:5905690T>C	uc010qzs.1	+	1	168	c.168T>C	c.(166-168)AGT>AGC	p.S56S	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	56	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGAACATAGTCTACACCAGC	0.418													C	5905690	T	C	5905690	2	2	47	1	0	0	0	0	0	0	0	1	11116	1664	58	3		3	OR52E4	11	5905690	Silent	SNP	T	TCGA-BR-7197-01A-11D-2201-08	837457	5905690	129100826	125	37941											
CNGA4	1262	broad.mit.edu	37	chr11	6265440	6265440	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggatgatctacagaccaAgtttgctcgcctcctggctg	11	12	1	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr11:6265440A>C	uc001mco.2	+	6	1636	c.1529A>C	c.(1528-1530)AAG>ACG	p.K510T	CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	510	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTACAGACCAAGTTTGCTCGC	0.587													C	6265440	A	C	6265440	3	2	47	1	0	0	0	0	1	0	0	0	3599	72	3	5	1551	5	CNGA4	11	6265440	Missense_Mutation	SNP	A	TCGA-BR-7197-01A-11D-2201-08	359750	6265440	128741076	126	37942											
NELL1	4745	broad.mit.edu	37	chr11	21594756	21594756	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggtagattgctggccacTcacttgccccaacttgagct	10	12	1	3			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr11:21594756T>G	uc001mqe.2	+	19	2336	c.2183T>G	c.(2182-2184)CTC>CGC	p.L728R	NELL1_uc001mqf.2_Missense_Mutation_p.L681R|NELL1_uc009yid.2_Missense_Mutation_p.L756R|NELL1_uc010rdo.1_Missense_Mutation_p.L671R|NELL1_uc010rdp.1_Missense_Mutation_p.L441R|NELL1_uc001mqh.2_Missense_Mutation_p.L273R	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	728	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						TGCTGGCCACTCACTTGCCCC	0.443													G	21594756	T	G	21594756	3	3	47	1	0	0	0	0	1	0	0	0	10333	1551	54	5	2257	5	NELL1	11	21594756	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	15329316	21594756	113411760	127	37943											
OR8H3	390152	broad.mit.edu	37	chr11	55890577	55890577	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttctctacttgcgtctcTcatctcttgggagtcaccat	7	13	5	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr11:55890577T>C	uc001nii.1	+	1	729	c.729T>C	c.(727-729)TCT>TCC	p.S243S		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					CTTGCGTCTCTCATCTCTTGG	0.403													C	55890577	T	C	55890577	2	2	47	1	0	0	0	0	0	0	0	1	11239	1538	54	3		3	OR8H3	11	55890577	Silent	SNP	T	TCGA-BR-7197-01A-11D-2201-08	34295821	55890577	79115939	128	37944											
OR10W1	81341	broad.mit.edu	37	chr11	58034972	58034972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggagagggtactgcaacGggtggcaaatggccacatag	16	7	0	2	rs144496337	byFrequency	TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr11:58034972G>A	uc001nmq.1	-	1	761	c.359C>T	c.(358-360)CCG>CTG	p.P120L		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W,	120	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)				GTACTGCAACGGGTGGCAAAT	0.537													A	58034972	G	A	58034972	3	1	47	1	0	0	0	0	1	0	0	0	10921	1116	39	1	562	1	OR10W1	11	58034972	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	2144395	58034972	76971544	129	37945											
ORAOV1	220064	broad.mit.edu	37	chr11	69488060	69488060	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaactactgccttcttcaTagccttcccgatacccttcc	3	18	2	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr11:69488060T>C	uc001opc.2	-	2	238	c.80A>G	c.(79-81)TAT>TGT	p.Y27C	ORAOV1_uc010rqi.1_Missense_Mutation_p.Y27C|ORAOV1_uc009ysm.2_RNA|ORAOV1_uc001opd.2_Intron|ORAOV1_uc001ope.1_Missense_Mutation_p.Y27C	NM_153451	NP_703152	Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	27											0	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			GCCTTCTTCATAGCCTTCCCG	0.493													C	69488060	T	C	69488060	3	2	47	1	0	0	0	0	1	0	0	0	11260	1406	49	3	349	3	ORAOV1	11	69488060	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	11453088	69488060	65518456	130	37946											
BIRC2	329	broad.mit.edu	37	chr11	102221160	102221160	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccagatttcttacctaccAtatgtggccattaacttttt	5	10	1	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr11:102221160A>G	uc001pgy.2	+	2	1974	c.575A>G	c.(574-576)CAT>CGT	p.H192R	BIRC2_uc010ruq.1_Missense_Mutation_p.H143R|BIRC2_uc010rur.1_Missense_Mutation_p.H192R	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	baculoviral IAP repeat-containing protein 2	192	BIR 2.				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		CTTACCTACCATATGTGGCCA	0.428													G	102221160	A	G	102221160	3	3	47	1	0	0	0	0	1	0	0	0	1435	217	8	3	577	3	BIRC2	11	102221160	Missense_Mutation	SNP	A	TCGA-BR-7197-01A-11D-2201-08	32733100	102221160	32785356	131	37947											
GRIA4	2893	broad.mit.edu	37	chr11	105795340	105795340	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcgtggtcttattcctAgttagtagatttagtccata	9	7	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr11:105795340A>C	uc001pix.2	+	12	2138	c.1692A>C	c.(1690-1692)CTA>CTC	p.L564L	GRIA4_uc001piw.2_Silent_p.L564L	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	564	Helical; (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TCTTATTCCTAGTTAGTAGAT	0.468													C	105795340	A	C	105795340	2	2	47	1	0	0	0	0	0	0	0	1	6770	407	15	5		5	GRIA4	11	105795340	Silent	SNP	A	TCGA-BR-7197-01A-11D-2201-08	3574180	105795340	29211176	132	37948											
OR8D2	283160	broad.mit.edu	37	chr11	124189172	124189172	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttgtcaggatgactgccTtcccctagtcatcttcttca	6	13	6	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr11:124189172T>G	uc010sah.1	-	1	922	c.922A>C	c.(922-924)AGG>CGG	p.R308R		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|pancreas(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GATGACTGCCTTCCCCTAGTC	0.398													G	124189172	T	G	124189172	2	3	47	1	0	0	0	0	0	0	0	1	11232	1608	56	5		5	OR8D2	11	124189172	Silent	SNP	T	TCGA-BR-7197-01A-11D-2201-08	18393832	124189172	10817344	133	37949											
CLEC2D	29121	broad.mit.edu	37	chr12	9847417	9847417	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaaggtgccagtagtgccAggcactacacagagaggaag	13	9	0	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr12:9847417A>G	uc001qwg.1	+	5	545	c.523A>G	c.(523-525)AGG>GGG	p.R175G	CLEC2D_uc001qwf.1_3'UTR|CLEC2D_uc009zgs.1_RNA|CLEC2D_uc001qwh.1_RNA|CLEC2D_uc009zgt.1_RNA|CLEC2D_uc009zgu.1_3'UTR	NM_013269	NP_037401	Q9UHP7	CLC2D_HUMAN	osteoclast inhibitory lectin isoform 1	175	Extracellular (Potential).|C-type lectin.				cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity				0						CAGTAGTGCCAGGCACTACAC	0.433													G	9847417	A	G	9847417	3	3	47	1	0	0	0	0	1	0	0	0	3508	179	7	3	627	3	CLEC2D	12	9847417	Missense_Mutation	SNP	A	TCGA-BR-7197-01A-11D-2201-08		9847417	124004478	134	37950											
KLRD1	3824	broad.mit.edu	37	chr12	10462015	10462015	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accactctgtggaggttaatTtctgggaccttagggataat	11	7	2	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr12:10462015T>G	uc001qxw.3	+	3	233	c.36T>G	c.(34-36)ATT>ATG	p.I12M	KLRD1_uc001qxx.3_Missense_Mutation_p.I12M|KLRD1_uc001qxy.3_Intron|KLRD1_uc009zhh.2_Missense_Mutation_p.I12M|KLRD1_uc009zhi.2_Missense_Mutation_p.I12M|KLRD1_uc001qxz.3_Missense_Mutation_p.I12M	NM_001114396	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D,	12	Helical; Signal-anchor for type II membrane protein; (Potential).				cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity				0						GGAGGTTAATTTCTGGGACCT	0.363													G	10462015	T	G	10462015	3	3	47	1	0	0	0	0	1	0	0	0	8419	1829	64	5	42	5	KLRD1	12	10462015	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	614598	10462015	123389880	135	37951											
PLCZ1	89869	broad.mit.edu	37	chr12	18841074	18841074	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catttgatcatttggaacacCaaaaacttctataattacta	3	8	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr12:18841074C>A	uc010sid.1	-	13	1731	c.1540G>T	c.(1540-1542)GGT>TGT	p.G514C	PLCZ1_uc001rdv.3_Missense_Mutation_p.G410C|PLCZ1_uc001rdw.3_Missense_Mutation_p.G255C|PLCZ1_uc001rdu.1_Missense_Mutation_p.G296C|PLCZ1_uc009zil.1_RNA	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	514	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTTGGAACACCAAAAACTTCT	0.333													A	18841074	C	A	18841074	3	1	47	1	0	0	0	0	1	0	0	0	12044	594	21	5	298	5	PLCZ1	12	18841074	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	8379059	18841074	115010821	136	37952											
HDAC7	51564	broad.mit.edu	37	chr12	48192633	48192633	+	Frame_Shift_Del	DEL	G	G	-													gaggtggtggtgcaggcgctGgggacgctgcagggccagca							TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr12:48192633delG	uc009zkv.1	-	1	291	c.76delC	c.(76-78)CAGfs	p.Q26fs	HDAC7_uc010slo.1_Frame_Shift_Del_p.Q65fs|HDAC7_uc001rqj.3_Frame_Shift_Del_p.Q65fs|HDAC7_uc001rqk.3_Frame_Shift_Del_p.Q48fs			Q8WUI4	HDAC7_HUMAN	Synthetic construct DNA, clone: pF1KB0470, Homo sapiens HDAC7 gene for histone deacetylase 7, without stop codon, in Flexi system.	26	Transcription repression 1 (By similarity).|Interaction with MEF2C (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		TGCAGGCGCTGGGGACGCTGC	0.692													-	48192633	G	-	48192633	7	5	47	1	0	1	0	1	0	0	0	0	7012	1357	47	0	2878	0	HDAC7	12	48192633	Frame_Shift_Del	DEL	G	TCGA-BR-7197-01A-11D-2201-08	29351559	48192633	85659262	137	37953											
CEP290	80184	broad.mit.edu	37	chr12	88530428	88530428	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgctttacttgctcatTaactttcttctctttctcca	3	11	4	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr12:88530428T>C	uc001tar.2	-	6	777	c.433A>G	c.(433-435)AAT>GAT	p.N145D	CEP290_uc009zsl.1_RNA	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	145	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						ACTTGCTCATTAACTTTCTTC	0.294													C	88530428	T	C	88530428	3	2	47	1	0	0	0	0	1	0	0	0	3253	1754	61	3	7202	3	CEP290	12	88530428	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	40337795	88530428	45321467	138	37954											
P2RX2	22953	broad.mit.edu	37	chr12	133196330	133196330	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccagacccagggaacctgCcccgaggtgaggggatcccg	14	15	0	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr12:133196330C>A	uc001ukj.1	+	3	375	c.375C>A	c.(373-375)TGC>TGA	p.C125*	P2RX2_uc001uki.1_Nonsense_Mutation_p.C125*|P2RX2_uc001ukk.1_Nonsense_Mutation_p.C125*|P2RX2_uc001ukl.1_Intron|P2RX2_uc001ukm.1_Intron|P2RX2_uc001ukn.1_Intron|P2RX2_uc009zyt.1_Nonsense_Mutation_p.C125*|P2RX2_uc001uko.1_Intron	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X2 isoform A	125	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		AGGGAACCTGCCCCGAGGTGA	0.721													A	133196330	C	A	133196330	4	1	47	1	0	0	0	0	0	1	0	0	11340	747	26	5	385	5	P2RX2	12	133196330	Nonsense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	44665902	133196330	655565	139	37955											
FREM2	341640	broad.mit.edu	37	chr13	39262883	39262883	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcagtggtccgcaaaacTtggtcatcagcgatgaggat	13	9	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr13:39262883T>C	uc001uwv.2	+	1	1711	c.1402T>C	c.(1402-1404)TTG>CTG	p.L468L		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	468	Extracellular (Potential).|CSPG 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCCGCAAAACTTGGTCATCAG	0.587													C	39262883	T	C	39262883	2	2	47	1	0	0	0	0	0	0	0	1	6045	1606	56	3		3	FREM2	13	39262883	Silent	SNP	T	TCGA-BR-7197-01A-11D-2201-08		39262883	75906995	140	37956											
FREM2	341640	broad.mit.edu	37	chr13	39435669	39435669	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagactacacaaaccttatcAagctcactgtcacaatgcca	4	14	3	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr13:39435669A>C	uc001uwv.2	+	15	7930	c.7621A>C	c.(7621-7623)AAG>CAG	p.K2541Q	FREM2_uc001uww.2_Missense_Mutation_p.K627Q	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2541	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AAACCTTATCAAGCTCACTGT	0.473													C	39435669	A	C	39435669	3	2	47	1	0	0	0	0	1	0	0	0	6045	131	5	5	7679	5	FREM2	13	39435669	Missense_Mutation	SNP	A	TCGA-BR-7197-01A-11D-2201-08	172786	39435669	75734209	141	37957											
PCDH17	27253	broad.mit.edu	37	chr13	58208116	58208116	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaaagggctctacgtgcTtcaggtgcacgagaacaaca	10	12	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr13:58208116T>C	uc001vhq.1	+	1	2328	c.1436T>C	c.(1435-1437)CTT>CCT	p.L479P	PCDH17_uc010aec.1_Missense_Mutation_p.L479P	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	479	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTCTACGTGCTTCAGGTGCAC	0.597													C	58208116	T	C	58208116	3	2	47	1	0	0	0	0	1	0	0	0	11512	1609	56	3	1438	3	PCDH17	13	58208116	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	18772447	58208116	56961762	142	37958											
CHD8	57680	broad.mit.edu	37	chr14	21861850	21861850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catagtcttgtggggttggtCggctcctggccaccacctcg	13	13	1	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr14:21861850C>T	uc001was.1	-	32	5361	c.5267G>A	c.(5266-5268)CGA>CAA	p.R1756Q	CHD8_uc001war.1_Missense_Mutation_p.R1652Q|SNORD9_uc001wat.1_5'Flank	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2035					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TGGGGTTGGTCGGCTCCTGGC	0.547													T	21861850	C	T	21861850	3	4	47	1	0	0	0	0	1	0	0	0	3331	884	31	1	1669	1	CHD8	14	21861850	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08		21861850	85487690	143	37959											
POMT2	29954	broad.mit.edu	37	chr14	77751348	77751348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttgagggtttctttcagGtatggggtgcaagtaacttc	14	5	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr14:77751348G>A	uc001xti.2	-	14	1722	c.1521C>T	c.(1519-1521)TAC>TAT	p.Y507Y	POMT2_uc001xth.1_Silent_p.Y205Y	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	507	MIR 3.				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		TTTCTTTCAGGTATGGGGTGC	0.498													A	77751348	G	A	77751348	2	1	47	1	0	0	0	0	0	0	0	1	12246	1256	44	4		4	POMT2	14	77751348	Silent	SNP	G	TCGA-BR-7197-01A-11D-2201-08	55889498	77751348	29598192	144	37960											
NDN	4692	broad.mit.edu	37	chr15	23932080	23932080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttctgcaccagctgcgcCggggctggcggtgccgggcc	17	16	1	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr15:23932080C>T	uc001ywk.2	-	1	371	c.285G>A	c.(283-285)CCG>CCA	p.P95P		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	95					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CCAGCTGCGCCGGGGCTGGCG	0.677									Prader-Willi_syndrome				T	23932080	C	T	23932080	2	4	47	1	0	0	0	0	0	0	0	1	10247	639	23	1		1	NDN	15	23932080	Silent	SNP	C	TCGA-BR-7197-01A-11D-2201-08		23932080	78599312	145	37961											
GRAMD2	196996	broad.mit.edu	37	chr15	72455726	72455726	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgcagtgggagagcagttCggcatcttcttagggcaggc	15	8	2	1	rs139817220		TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr15:72455726C>T	uc002atq.2	-	10	861	c.837G>A	c.(835-837)CCG>CCA	p.P279P	GRAMD2_uc010bis.2_Silent_p.P279P|GRAMD2_uc010ukh.1_Silent_p.P73P	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	279						integral to membrane					0						GAGAGCAGTTCGGCATCTTCT	0.572													T	72455726	C	T	72455726	2	4	47	1	0	0	0	0	0	0	0	1	6750	871	31	1		1	GRAMD2	15	72455726	Silent	SNP	C	TCGA-BR-7197-01A-11D-2201-08	48523646	72455726	30075666	146	37962											
SEMA4B	10509	broad.mit.edu	37	chr15	90771576	90771576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttttattcttgctctacCggcaccggaacagcatgaaa	8	11	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr15:90771576C>T	uc002boy.2	+	15	2498	c.2215C>T	c.(2215-2217)CGG>TGG	p.R739W	SEMA4B_uc002boz.2_Missense_Mutation_p.R739W|SEMA4B_uc010uqd.1_Missense_Mutation_p.R577W|SEMA4B_uc002bpa.2_Missense_Mutation_p.R577W|SEMA4B_uc010bnv.1_Intron	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CTTGCTCTACCGGCACCGGAA	0.607													T	90771576	C	T	90771576	3	4	47	1	0	0	0	0	1	0	0	0	14032	643	23	1	2269	1	SEMA4B	15	90771576	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	18315850	90771576	11759816	147	37963											
ZSCAN10	84891	broad.mit.edu	37	chr16	3139328	3139328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgccgccgcagatgcgCgttgcgccggaagctgcgac	16	14	0	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr16:3139328C>T	uc002ctv.1	-	5	2030	c.1942G>A	c.(1942-1944)GCG>ACG	p.A648T	ZSCAN10_uc002cty.1_Missense_Mutation_p.A309T|ZSCAN10_uc002ctw.1_Missense_Mutation_p.A566T|ZSCAN10_uc002ctx.1_Missense_Mutation_p.A576T	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	648	C2H2-type 12.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						CGCAGATGCGCGTTGCGCCGG	0.711													T	3139328	C	T	3139328	3	4	47	1	0	0	0	0	1	0	0	0	18224	768	27	1	239	1	ZSCAN10	16	3139328	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08		3139328	87215425	148	37964											
ZSCAN10	84891	broad.mit.edu	37	chr16	3140172	3140172	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaggagtgggtcagcaggtgCttgctcaggtgcgagctctg	18	8	3	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr16:3140172C>G	uc002ctv.1	-	5	1186	c.1098G>C	c.(1096-1098)AAG>AAC	p.K366N	ZSCAN10_uc002cty.1_Missense_Mutation_p.K27N|ZSCAN10_uc002ctw.1_Missense_Mutation_p.K284N|ZSCAN10_uc002ctx.1_Missense_Mutation_p.K294N	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	366	C2H2-type 3.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						TCAGCAGGTGCTTGCTCAGGT	0.697													G	3140172	C	G	3140172	3	3	47	1	0	0	0	0	1	0	0	0	18224	796	28	5	1083	5	ZSCAN10	16	3140172	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	844	3140172	87214581	149	37965											
CORO7	79585	broad.mit.edu	37	chr16	4411080	4411080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggagcagatcttctccGtgtggcctggaggaaggcag	17	9	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr16:4411080G>A	uc002cwh.3	-	19	1901	c.1781C>T	c.(1780-1782)ACG>ATG	p.T594M	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.T594M|CORO7_uc002cwg.3_Missense_Mutation_p.T374M|CORO7_uc010uxh.1_Missense_Mutation_p.T576M|CORO7_uc010uxi.1_Missense_Mutation_p.T509M|CORO7_uc002cwi.1_Missense_Mutation_p.T374M|CORO7_uc010uxj.1_RNA	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	594	WD 6.					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						GATCTTCTCCGTGTGGCCTGG	0.622													A	4411080	G	A	4411080	3	1	47	1	0	0	0	0	1	0	0	0	3759	1145	40	1	1036	1	CORO7	16	4411080	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	1270908	4411080	85943673	150	37966											
XPO6	23214	broad.mit.edu	37	chr16	28112970	28112970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaggacctggagcagcaCgttcacaaactggaacagca	11	12	1	0	rs14672		TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr16:28112970C>T	uc002dpa.1	-	23	3586	c.3085G>A	c.(3085-3087)GTG>ATG	p.V1029M	XPO6_uc002dpb.1_Missense_Mutation_p.V1015M|XPO6_uc010vcp.1_Missense_Mutation_p.V1028M	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	1029					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						TGGAGCAGCACGTTCACAAAC	0.577													T	28112970	C	T	28112970	3	4	47	1	0	0	0	0	1	0	0	0	17445	536	19	1	300	1	XPO6	16	28112970	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	23701890	28112970	62241783	151	37967											
CDH8	1006	broad.mit.edu	37	chr16	61761004	61761004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagatatttacttggccGggttttccattttcacataa	8	7	1	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr16:61761004G>A	uc002eog.1	-	9	1782	c.1530C>T	c.(1528-1530)CCC>CCT	p.P510P	CDH8_uc002eoh.2_Silent_p.P279P	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	510	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTACTTGGCCGGGTTTTCCAT	0.368													A	61761004	G	A	61761004	2	1	47	1	0	0	0	0	0	0	0	1	3116	1103	39	1		1	CDH8	16	61761004	Silent	SNP	G	TCGA-BR-7197-01A-11D-2201-08	33648034	61761004	28593749	152	37968											
CDH11	1009	broad.mit.edu	37	chr16	64981820	64981820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggtttgatgtctttgcGggggataaatccattgatac	11	7	2	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr16:64981820G>A	uc002eoi.2	-	13	2511	c.2077C>T	c.(2077-2079)CGC>TGC	p.R693C	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Missense_Mutation_p.R567C	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	693	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ATGTCTTTGCGGGGGATAAAT	0.488			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			A	64981820	G	A	64981820	3	1	47	1	0	0	0	0	1	0	0	0	3097	1116	39	1	317	1	CDH11	16	64981820	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	3220816	64981820	25372933	153	37969											
GAS8	2622	broad.mit.edu	37	chr16	90099328	90099328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtggtgaagaacctgcGgctggtaggtgtggcggggg	23	5	0	2	rs141287302		TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr16:90099328G>A	uc002fqi.1	+	4	613	c.491G>A	c.(490-492)CGG>CAG	p.R164Q	GAS8_uc010vps.1_Missense_Mutation_p.R139Q|GAS8_uc002fqh.2_Missense_Mutation_p.R81Q|GAS8_uc010vpt.1_Missense_Mutation_p.R164Q|GAS8_uc010vpu.1_Missense_Mutation_p.R81Q|GAS8_uc010vpv.1_Missense_Mutation_p.R135Q|GAS8_uc010cjc.1_Missense_Mutation_p.R81Q|GAS8_uc010vpw.1_Missense_Mutation_p.R81Q|GAS8_uc002fqj.1_5'UTR	NM_001481	NP_001472	O95995	GAS8_HUMAN	growth arrest-specific 8	164	Microtubule-binding.				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AAGAACCTGCGGCTGGTAGGT	0.448													A	90099328	G	A	90099328	3	1	47	1	0	0	0	0	1	0	0	0	6251	1116	39	1	505	1	GAS8	16	90099328	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	25117508	90099328	255425	154	37970											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	8	12	2	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr17:7578212G>A	uc002gim.2	-	6	831	c.637C>T	c.(637-639)CGA>TGA	p.R213*	TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	213	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7578212	G	A	7578212	4	1	47	1	0	0	0	0	0	1	0	0	16378	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08		7578212	73616998	155	37971											
TNFAIP1	7126	broad.mit.edu	37	chr17	26671447	26671447	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaacgtcctactctatgagActccccgcgtccccgacaac	6	18	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr17:26671447A>T	uc002hax.1	+	7	791	c.772A>T	c.(772-774)ACT>TCT	p.T258S	TNFAIP1_uc002hay.2_Missense_Mutation_p.T258S|TNFAIP1_uc010waf.1_Missense_Mutation_p.T154S	NM_021137	NP_066960	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1	258					apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity				0	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		ACTCTATGAGACTCCCCGCGT	0.572													T	26671447	A	T	26671447	3	4	47	1	0	0	0	0	1	0	0	0	16269	275	10	5	794	5	TNFAIP1	17	26671447	Missense_Mutation	SNP	A	TCGA-BR-7197-01A-11D-2201-08	19093235	26671447	54523763	156	37972											
CNTNAP1	8506	broad.mit.edu	37	chr17	40837321	40837321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcctgtgggacgtgttcGccttcagcttcaagaccgag	13	11	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr17:40837321G>A	uc002iay.2	+	5	814	c.598G>A	c.(598-600)GCC>ACC	p.A200T	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	200	Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GGACGTGTTCGCCTTCAGCTT	0.642													A	40837321	G	A	40837321	3	1	47	1	0	0	0	0	1	0	0	0	3646	1087	38	1	616	1	CNTNAP1	17	40837321	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	14165874	40837321	40357889	157	37973											
AOC3	8639	broad.mit.edu	37	chr17	41003597	41003598	+	Frame_Shift_Ins	INS	-	-	G													gctttctgacccagcggctgINSgggccagggctggtggatgc							TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	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													G	41003598	-	G	41003597	7	5	47	1	0	1	1	0	0	0	0	0	728	1335	47	0	239	0	AOC3	17	41003597	Frame_Shift_Ins	INS	-	TCGA-BR-7197-01A-11D-2201-08	166276	41003597	40191613	158	37974											
ITGB4	3691	broad.mit.edu	37	chr17	73747111	73747112	+	Frame_Shift_Ins	INS	-	-	T													ctcctccacggtgacccagcINStgagctgggctgagccggct							TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr17:73747111_73747112insT	uc002jpg.2	+	30	3899_3900	c.3712_3713insT	c.(3712-3714)CTGfs	p.L1238fs	ITGB4_uc002jph.2_Frame_Shift_Ins_p.L1238fs|ITGB4_uc002jpi.3_Frame_Shift_Ins_p.L1238fs|ITGB4_uc002jpj.2_Frame_Shift_Ins_p.L1238fs	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1238	Fibronectin type-III 2.|Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGTGACCCAGCTGAGCTGGGCT	0.594													T	73747112	-	T	73747111	7	5	47	1	0	1	1	0	0	0	0	0	7897	796	28	0	3826	0	ITGB4	17	73747111	Frame_Shift_Ins	INS	-	TCGA-BR-7197-01A-11D-2201-08	32743514	73747111	7448099	159	37975	121	2									
ITGB4	3691	broad.mit.edu	37	chr17	73747112	73747113	+	Frame_Shift_Ins	INS	-	-	T													tcctccacggtgacccagctINSgagctgggctgagccggctg							TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr17:73747111_73747112C>CT	uc002jpg.3	+	29	3899_3900	c.3712_3713C>CT	c.(3712-3714)ctgfs	p.L1238fs	ITGB4_uc002jph.3_Frame_Shift_Ins_p.L1238fs|ITGB4_uc002jpi.4_Frame_Shift_Ins_p.L1238fs|ITGB4_uc002jpj.3_Frame_Shift_Ins_p.L1238fs	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1238	Fibronectin type-III 2.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGTGACCCAGCTGAGCTGGGCT	0.594													T	73747113	-	T	73747112	7	5	47	1	0	1	1	0	0	0	0	0	7897	1580	55	0	3827	0	ITGB4	17	73747112	Frame_Shift_Ins	INS	-	TCGA-BR-7197-01A-11D-2201-08	1	73747112	7448098	160	37976	121	2									
TMC8	147138	broad.mit.edu	37	chr17	76127802	76127802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctgccctatgccatgatgGacaagcgcctcatctggtgg	13	12	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr17:76127802G>A	uc002jup.2	+	2	515	c.133G>A	c.(133-135)GAC>AAC	p.D45N	TMC6_uc010dhf.1_5'Flank|TMC6_uc002juk.2_5'Flank|TMC6_uc010dhg.1_5'Flank|TMC6_uc002jul.1_Intron|TMC6_uc002jun.3_5'Flank|TMC6_uc002juo.2_5'Flank|TMC6_uc010wtq.1_5'Flank|TMC8_uc010dhh.1_Missense_Mutation_p.D45N|TMC8_uc002juq.2_Intron|TMC8_uc010wtr.1_5'Flank	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	45	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			TGCCATGATGGACAAGCGCCT	0.736									Epidermodysplasia_Verruciformis_Familial_Clustering_of				A	76127802	G	A	76127802	3	1	47	1	0	0	0	0	1	0	0	0	15988	1174	41	4	135	4	TMC8	17	76127802	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	2380690	76127802	5067408	161	37977											
LAMA1	284217	broad.mit.edu	37	chr18	7043226	7043226	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcaaagaaatactcttacTttgtgtggtctataatatcc	7	7	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr18:7043226T>G	uc002knm.2	-	8	1249	c.1155A>C	c.(1153-1155)AAA>AAC	p.K385N	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	385	Laminin EGF-like 2.				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)	ATACTCTTACTTTGTGTGGTC	0.403													G	7043226	T	G	7043226	3	3	47	1	0	0	0	0	1	0	0	0	8605	1623	56	5	8296	5	LAMA1	18	7043226	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08		7043226	71034022	162	37978											
FHOD3	80206	broad.mit.edu	37	chr18	34298328	34298329	+	Frame_Shift_Ins	INS	-	-	CC													ggaggcccctgggccacctcINSccccacccccacccaccttt							TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr18:34298327_34298328T>TCC	uc021uiv.1	+	18	3163_3164	c.3066_3067T>TCC	c.(3064-3069)cctcccfs	p.P1022fs	FHOD3_uc002kzs.1_Frame_Shift_Ins_p.P847fs|FHOD3_uc002kzt.1_Frame_Shift_Ins_p.P830fs|FHOD3_uc010dmz.1_Frame_Shift_Ins_p.P562fs|FHOD3_uc010dna.1_Frame_Shift_Ins_p.P150fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	830	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CTGGGCCACCTCCCCCACCCCC	0.604													CC	34298329	-	CC	34298328	7	5	47	1	0	1	1	0	0	0	0	0	5883	855	30	0	2604	0	FHOD3	18	34298328	Frame_Shift_Ins	INS	-	TCGA-BR-7197-01A-11D-2201-08	27255102	34298328	43778920	163	37979											
DCC	1630	broad.mit.edu	37	chr18	50848502	50848502	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccttccaactggtatactgcAgagactccagagaatgatct	8	11	1	3			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr18:50848502A>T	uc002lfe.1	+	14	2726	c.2139A>T	c.(2137-2139)GCA>GCT	p.A713A	DCC_uc010xdr.1_Silent_p.A561A|DCC_uc010dpf.1_Silent_p.A368A	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	713	Extracellular (Potential).|Fibronectin type-III 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGTATACTGCAGAGACTCCAG	0.403													T	50848502	A	T	50848502	2	4	47	1	0	0	0	0	0	0	0	1	4282	175	7	5		5	DCC	18	50848502	Silent	SNP	A	TCGA-BR-7197-01A-11D-2201-08	16550174	50848502	27228746	164	37980											
CDH7	1005	broad.mit.edu	37	chr18	63530059	63530059	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgtgatgctgacggcgtAgcccagacctgcaatgcaga	13	11	0	4			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr18:63530059A>G	uc002ljz.2	+	11	2095	c.1770A>G	c.(1768-1770)GTA>GTG	p.V590V	CDH7_uc002lka.2_Silent_p.V590V|CDH7_uc002lkb.2_Silent_p.V590V	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	590	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				CTGACGGCGTAGCCCAGACCT	0.527													G	63530059	A	G	63530059	2	3	47	1	0	0	0	0	0	0	0	1	3115	407	15	3		3	CDH7	18	63530059	Silent	SNP	A	TCGA-BR-7197-01A-11D-2201-08	12681557	63530059	14547189	165	37981											
ZNF407	55628	broad.mit.edu	37	chr18	72346747	72346747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgacgctcgatggggagCgctcggctgaaagccctgtg	16	11	0	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr18:72346747C>T	uc002llw.2	+	1	3829	c.3772C>T	c.(3772-3774)CGC>TGC	p.R1258C	ZNF407_uc010xfc.1_Missense_Mutation_p.R1258C|ZNF407_uc010dqu.1_Missense_Mutation_p.R1258C|ZNF407_uc002llu.2_Missense_Mutation_p.R1257C	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CGATGGGGAGCGCTCGGCTGA	0.577													T	72346747	C	T	72346747	3	4	47	1	0	0	0	0	1	0	0	0	17884	768	27	1	3774	1	ZNF407	18	72346747	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	8816688	72346747	5730501	166	37982											
MUC16	94025	broad.mit.edu	37	chr19	9059857	9059857	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaatttgggggtgaactggTttcaggttctgagcttgtgc	14	6	2	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr19:9059857T>A	uc002mkp.2	-	3	27793	c.27589A>T	c.(27589-27591)ACC>TCC	p.T9197S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9199	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGTGAACTGGTTTCAGGTTCT	0.498													A	9059857	T	A	9059857	3	1	47	1	0	0	0	0	1	0	0	0	9973	1725	60	5	16262	5	MUC16	19	9059857	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08		9059857	50069126	167	37983											
MUC16	94025	broad.mit.edu	37	chr19	9072191	9072191	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcacaggttccaagcgTgtacgtaatatgtctgtaat	10	8	2	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr19:9072191T>G	uc002mkp.2	-	3	15459	c.15255A>C	c.(15253-15255)ACA>ACC	p.T5085T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5087	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTTCCAAGCGTGTACGTAATA	0.433													G	9072191	T	G	9072191	2	3	47	1	0	0	0	0	0	0	0	1	9973	1683	59	5		5	MUC16	19	9072191	Silent	SNP	T	TCGA-BR-7197-01A-11D-2201-08	12334	9072191	50056792	168	37984											
MUC16	94025	broad.mit.edu	37	chr19	9073279	9073279	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgacatcattgttcattgCagtggttatttttgagtggg	11	5	2	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr19:9073279C>A	uc002mkp.2	-	3	14371	c.14167G>T	c.(14167-14169)GCA>TCA	p.A4723S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4725	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTGTTCATTGCAGTGGTTATT	0.483													A	9073279	C	A	9073279	3	1	47	1	0	0	0	0	1	0	0	0	9973	710	25	5	29684	5	MUC16	19	9073279	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	1088	9073279	50055704	169	37985											
CHERP	10523	broad.mit.edu	37	chr19	16638979	16638979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgtgtggcccggggcccCgggggccggcagctgcagga	21	13	0	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr19:16638979C>T	uc002nei.1	-	9	1291	c.1217G>A	c.(1216-1218)CGG>CAG	p.R406Q	MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_5'Flank	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	406	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						cccggggccccgggggccggc	0.507													T	16638979	C	T	16638979	3	4	47	1	0	0	0	0	1	0	0	0	3336	652	23	1	1569	1	CHERP	19	16638979	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	7565700	16638979	42490004	170	37986											
MRPL34	64981	broad.mit.edu	37	chr19	17416747	17416747	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgggccccacgagtaggtcgGcagcgttgctgggtggcagg	19	10	0	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr19:17416747G>C	uc002ngc.1	+	1	271	c.46G>C	c.(46-48)GCA>CCA	p.A16P	ABHD8_uc002ngb.3_5'Flank	NM_023937	NP_076426	Q9BQ48	RM34_HUMAN	mitochondrial ribosomal protein L34 precursor	16					translation		structural constituent of ribosome				0						GAGTAGGTCGGCAGCGTTGCT	0.662													C	17416747	G	C	17416747	3	2	47	1	0	0	0	0	1	0	0	0	9797	1203	42	5	48	5	MRPL34	19	17416747	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	777768	17416747	41712236	171	37987											
CRTC1	23373	broad.mit.edu	37	chr19	18886480	18886480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaacatgatggagaacgcCatcagctccagcagcctgta	9	12	2	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr19:18886480C>T	uc002nkb.3	+	13	1630	c.1542C>T	c.(1540-1542)GCC>GCT	p.A514A	CRTC1_uc010ebv.2_Silent_p.A530A|CRTC1_uc010ebw.2_Silent_p.A350A|CRTC1_uc002nkc.3_Silent_p.A212A	NM_015321	NP_056136	Q6UUV9	CRTC1_HUMAN	mucoepidermoid carcinoma translocated 1 isoform	514					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519						TGGAGAACGCCATCAGCTCCA	0.677													T	18886480	C	T	18886480	2	4	47	1	0	0	0	0	0	0	0	1	3899	581	21	4		4	CRTC1	19	18886480	Silent	SNP	C	TCGA-BR-7197-01A-11D-2201-08	1469733	18886480	40242503	172	37988											
ZNF493	284443	broad.mit.edu	37	chr19	21606384	21606384	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaccaatcttcaacccTtactggacataagataattc	3	10	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr19:21606384T>A	uc002npx.2	+	2	819	c.539T>A	c.(538-540)CTT>CAT	p.L180H	ZNF493_uc002npw.2_Missense_Mutation_p.L308H|ZNF493_uc002npy.2_Missense_Mutation_p.L180H	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 1	180	C2H2-type 6; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCTTCAACCCTTACTGGACAT	0.328													A	21606384	T	A	21606384	3	1	47	1	0	0	0	0	1	0	0	0	17941	1609	56	5	1000	5	ZNF493	19	21606384	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	2719904	21606384	37522599	173	37989											
ZNF43	7594	broad.mit.edu	37	chr19	22002007	22002007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaattctatggccacatccAtaaatgtcaatggtccctaa	6	10	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr19:22002007A>G	uc002nqj.2	-	2	150	c.20T>C	c.(19-21)ATG>ACG	p.M7T	ZNF43_uc010ecv.2_Missense_Mutation_p.M1T|ZNF43_uc002nql.2_Missense_Mutation_p.M1T|ZNF43_uc002nqm.2_Missense_Mutation_p.M1T|ZNF43_uc002nqk.2_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	7	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GGCCACATCCATAAATGTCAA	0.393													G	22002007	A	G	22002007	3	3	47	1	0	0	0	0	1	0	0	0	17900	217	8	3	2421	3	ZNF43	19	22002007	Missense_Mutation	SNP	A	TCGA-BR-7197-01A-11D-2201-08	395623	22002007	37126976	174	37990											
TSHZ3	57616	broad.mit.edu	37	chr19	31768179	31768179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatctgacaaggcattctcGcgtagcggcgagtttgacat	11	9	2	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr19:31768179G>A	uc002nsy.3	-	2	2585	c.2520C>T	c.(2518-2520)CGC>CGT	p.R840R		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	840					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					AGGCATTCTCGCGTAGCGGCG	0.522													A	31768179	G	A	31768179	2	1	47	1	0	0	0	0	0	0	0	1	16622	1074	38	1		1	TSHZ3	19	31768179	Silent	SNP	G	TCGA-BR-7197-01A-11D-2201-08	9766172	31768179	27360804	175	37991											
ZNF382	84911	broad.mit.edu	37	chr19	37117123	37117123	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atattcatcaaccacaaaaaActaattaaggagagaagtaa	5	6	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr19:37117123A>C	uc002oek.2	+	5	437	c.324A>C	c.(322-324)AAA>AAC	p.K108N	ZNF382_uc010efa.2_Missense_Mutation_p.K59N|ZNF382_uc010efb.2_Missense_Mutation_p.K107N|ZNF382_uc002oel.2_Missense_Mutation_p.K107N	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	zinc finger protein 382	108	Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ACCACAAAAAACTAATTAAGG	0.328													C	37117123	A	C	37117123	3	2	47	1	0	0	0	0	1	0	0	0	17870	40	2	5	334	5	ZNF382	19	37117123	Missense_Mutation	SNP	A	TCGA-BR-7197-01A-11D-2201-08	5348944	37117123	22011860	176	37992											
ERF	2077	broad.mit.edu	37	chr19	42753425	42753425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatcgggctcagcgtgggcGagggagtgtaggccaggtgg	20	8	1	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr19:42753425G>A	uc002ote.3	-	4	997	c.839C>T	c.(838-840)TCG>TTG	p.S280L	ERF_uc002otd.3_Missense_Mutation_p.S11L	NM_006494	NP_006485	P50548	ERF_HUMAN	Ets2 repressor factor	280					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4		Prostate(69;0.00682)				CAGCGTGGGCGAGGGAGTGTA	0.692													A	42753425	G	A	42753425	3	1	47	1	0	0	0	0	1	0	0	0	5221	1059	37	1	811	1	ERF	19	42753425	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	5636302	42753425	16375558	177	37993											
BCAT2	587	broad.mit.edu	37	chr19	49310309	49310309	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacacagaagccaagggacaGagagaagctttcgtgcccag	12	11	0	3			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr19:49310309G>A	uc002pkr.2	-	2	84	c.47C>T	c.(46-48)TCT>TTT	p.S16F	BCAT2_uc002pkp.2_5'UTR|BCAT2_uc002pkq.3_5'UTR|BCAT2_uc002pks.2_5'UTR|BCAT2_uc002pkt.2_Intron|BCAT2_uc010emh.1_Missense_Mutation_p.S16F|BCAT2_uc010emi.1_Intron|BCAT2_uc002pku.1_5'UTR|BCAT2_uc010emj.1_RNA	NM_001190	NP_001181	O15382	BCAT2_HUMAN	branched chain aminotransferase 2, mitochondrial	16						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			ovary(1)	1		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	CCAAGGGACAGAGAGAAGCTT	0.597													A	49310309	G	A	49310309	3	1	47	1	0	0	0	0	1	0	0	0	1355	942	33	4	1171	4	BCAT2	19	49310309	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	6556884	49310309	9818674	178	37994											
KLK4	9622	broad.mit.edu	37	chr19	51411894	51411894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccccgcggtagggcactgcGaagcaatgctgatgctccgg	14	13	0	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr19:51411894G>A	uc002pua.1	-	3	416	c.416C>T	c.(415-417)TCG>TTG	p.S139L	KLK4_uc002pty.1_Missense_Mutation_p.S90L|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_Missense_Mutation_p.S44L|KLK4_uc002puc.1_RNA|KLK4_uc010eoi.1_Missense_Mutation_p.S44L|KLK4_uc002pud.1_Missense_Mutation_p.S44L	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4 preproprotein	139	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		AGGGCACTGCGAAGCAATGCT	0.587													A	51411894	G	A	51411894	3	1	47	1	0	0	0	0	1	0	0	0	8406	1059	37	1	360	1	KLK4	19	51411894	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	2101585	51411894	7717089	179	37995											
SIGLEC10	89790	broad.mit.edu	37	chr19	51920007	51920007	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcggtgttgtggtcctGgggtctgggcgtgaagctga	20	6	1	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr19:51920007G>A	uc002pwo.2	-	3	1235	c.619C>T	c.(619-621)CAG>TAG	p.Q207*	SIGLEC10_uc002pwp.2_Nonsense_Mutation_p.Q149*|SIGLEC10_uc002pwq.2_Nonsense_Mutation_p.Q149*|SIGLEC10_uc002pwr.2_Nonsense_Mutation_p.Q207*|SIGLEC10_uc010ycy.1_Nonsense_Mutation_p.Q207*|SIGLEC10_uc010ycz.1_Nonsense_Mutation_p.Q159*|SIGLEC10_uc010eow.2_5'UTR|SIGLEC10_uc002pws.1_Nonsense_Mutation_p.Q133*	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	207	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TTGTGGTCCTGGGGTCTGGGC	0.617													A	51920007	G	A	51920007	4	1	47	1	0	0	0	0	0	1	0	0	14306	1357	47	4	1510	4	SIGLEC10	19	51920007	Nonsense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	508113	51920007	7208976	180	37996											
PTPRA	5786	broad.mit.edu	37	chr20	2988067	2988067	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgcttcattcatcaacGtaaggatcgggtgctttccc	8	11	4	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr20:2988067G>A	uc010zqd.1	+	10	1256	c.939_splice	c.e10+1	p.N313_splice	PTPRA_uc002whj.2_Splice_Site_p.N302_splice|PTPRA_uc002whk.2_Splice_Site_p.N293_splice|PTPRA_uc002whl.2_Splice_Site_p.N293_splice|PTPRA_uc002whm.2_Splice_Site_p.N69_splice|PTPRA_uc002whn.2_Splice_Site_p.N293_splice|PTPRA_uc002who.2_Splice_Site	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A						axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						ATTCATCAACGTAAGGATCGG	0.458													A	2988067	G	A	2988067	5	1	47	1	0	0	0	0	0	0	1	0	12795	1159	40	1	937	1	PTPRA	20	2988067	Splice_Site	SNP	G	TCGA-BR-7197-01A-11D-2201-08		2988067	60037453	181	37997											
ProSAPiP1	9762	broad.mit.edu	37	chr20	3146426	3146426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtacctgggccacagccGcctcgctctgctccaggctg	11	18	1	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr20:3146426G>A	uc002wia.1	-	2	2438	c.1040C>T	c.(1039-1041)GCG>GTG	p.A347V	ProSAPiP1_uc002wib.1_Missense_Mutation_p.A347V	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	347	Potential.					cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						GGCCACAGCCGCCTCGCTCTG	0.711													A	3146426	G	A	3146426	3	1	47	1	0	0	0	0	1	0	0	0	12870	1087	38	1	989	1	ProSAPiP1	20	3146426	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	158359	3146426	59879094	182	37998											
ESF1	51575	broad.mit.edu	37	chr20	13756707	13756707	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcctcatcttcatcctcctCttcatcttcatcctcctctt	0	18	8	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr20:13756707C>T	uc002woj.2	-	3	955	c.847G>A	c.(847-849)GAG>AAG	p.E283K	ESF1_uc002wok.1_Missense_Mutation_p.E283K	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	283	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1						tcatcctcctcttcatcttca	0.234													T	13756707	C	T	13756707	3	4	47	1	0	0	0	0	1	0	0	0	5251	922	32	4	1756	4	ESF1	20	13756707	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	10610281	13756707	49268813	183	37999											
MYH7B	57644	broad.mit.edu	37	chr20	33577664	33577664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccaatttccagcagcctcGgcctgacaagaagcgcaagt	9	14	0	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr20:33577664G>A	uc002xbi.1	+	18	1927	c.1835G>A	c.(1834-1836)CGG>CAG	p.R612Q	MIR499_hsa-mir-499|MI0003183_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	570	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CAGCAGCCTCGGCCTGACAAG	0.632													A	33577664	G	A	33577664	3	1	47	1	0	0	0	0	1	0	0	0	10040	1116	39	1	1905	1	MYH7B	20	33577664	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	19820957	33577664	29447856	184	38000											
LPIN3	64900	broad.mit.edu	37	chr20	39977772	39977772	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcactgcagcccaaagacAtctacccctactcggatggc	7	16	2	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr20:39977772A>G	uc002xjx.2	+	5	689	c.598A>G	c.(598-600)ATC>GTC	p.I200V	LPIN3_uc010ggh.2_Missense_Mutation_p.I201V|LPIN3_uc010zwf.1_RNA	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	lipin 3	200					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.000739)				GCCCAAAGACATCTACCCCTA	0.547													G	39977772	A	G	39977772	3	3	47	1	0	0	0	0	1	0	0	0	8920	217	8	3	612	3	LPIN3	20	39977772	Missense_Mutation	SNP	A	TCGA-BR-7197-01A-11D-2201-08	6400108	39977772	23047748	185	38001											
CSTF1	1477	broad.mit.edu	37	chr20	54970640	54970640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagtgggcttgaaggaccGccagcagctctacaagctga	12	11	1	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr20:54970640G>A	uc002xxl.1	+	2	232	c.32G>A	c.(31-33)CGC>CAC	p.R11H	CSTF1_uc002xxm.1_Missense_Mutation_p.R11H|CSTF1_uc002xxn.1_Missense_Mutation_p.R11H|CSTF1_uc002xxo.1_5'UTR	NM_001033521	NP_001028693	Q05048	CSTF1_HUMAN	cleavage stimulation factor subunit 1	11					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(1)	1			Colorectal(105;0.202)			TTGAAGGACCGCCAGCAGCTC	0.498													A	54970640	G	A	54970640	3	1	47	1	0	0	0	0	1	0	0	0	3983	1087	38	1	34	1	CSTF1	20	54970640	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	14992868	54970640	8054880	186	38002											
ZNF831	128611	broad.mit.edu	37	chr20	57766527	57766527	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtccgcactgtggtcgCgactgcctgaagcccagtgt	13	13	0	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr20:57766527C>T	uc002yan.2	+	1	453	c.453C>T	c.(451-453)CGC>CGT	p.R151R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	151	C2H2-type 1.					intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					ACTGTGGTCGCGACTGCCTGA	0.657													T	57766527	C	T	57766527	2	4	47	1	0	0	0	0	0	0	0	1	18182	755	27	1		1	ZNF831	20	57766527	Silent	SNP	C	TCGA-BR-7197-01A-11D-2201-08	2795887	57766527	5258993	187	38003											
ADAMTS5	11096	broad.mit.edu	37	chr21	28338124	28338124	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcctcgaagctgaagcccTcgcgggtgtagacgtgcagg	17	11	0	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr21:28338124T>C	uc002ymg.2	-	1	1316	c.587A>G	c.(586-588)GAG>GGG	p.E196G		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	196					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						GCTGAAGCCCTCGCGGGTGTA	0.697													C	28338124	T	C	28338124	3	2	47	1	0	0	0	0	1	0	0	0	269	1551	54	3	2237	3	ADAMTS5	21	28338124	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08		28338124	19791771	188	38004											
ADAMTS5	11096	broad.mit.edu	37	chr21	28338580	28338580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctccccctgccgccggCggggctgggcggctgctgca	15	19	0	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr21:28338580C>T	uc002ymg.2	-	1	860	c.131G>A	c.(130-132)CGC>CAC	p.R44H		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	44					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						CTGCCGCCGGCGGGGCTGGGC	0.766													T	28338580	C	T	28338580	3	4	47	1	0	0	0	0	1	0	0	0	269	768	27	1	2693	1	ADAMTS5	21	28338580	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	456	28338580	19791315	189	38005											
SMC1B	27127	broad.mit.edu	37	chr22	45767386	45767386	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaattctttaattcttcGttgtcgttccttgattcctt	5	8	2	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chr22:45767386G>A	uc003bgc.2	-	14	2330	c.2278C>T	c.(2278-2280)CGA>TGA	p.R760*	SMC1B_uc003bgd.2_Nonsense_Mutation_p.R760*|SMC1B_uc003bge.1_Nonsense_Mutation_p.R543*	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	760	Potential.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTAATTCTTCGTTGTCGTTCC	0.299													A	45767386	G	A	45767386	4	1	47	1	0	0	0	0	0	1	0	0	14782	1153	40	1	1477	1	SMC1B	22	45767386	Nonsense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08		45767386	5537180	190	38006											
PPP2R3B	28227	broad.mit.edu	37	chrX	301618	301624	+	Frame_Shift_Del	DEL	GAACATG	GAACATG	-													tcgtagaagtactcgagctcGaacatggacagggcgccgtc					rs147635089	byFrequency	TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chrX:301617_301623CGAACATG>C	uc004cpg.3	-	9	1492_1498	c.1228_1234CATGTTCG>G	c.(1228-1236)atgttcgagfs	p.M410fs	PPP2R3B_uc004cpf.3_Frame_Shift_Del_p.M11fs	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA.	410	EF-hand.				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TACTCGAGCTCGAACATGGACAGGGCG	0.662													-	301624	GAACATG	-	301618	7	5	47	1	0	1	0	1	0	0	0	0	12389	1049	37	0	510	0	PPP2R3B	23	301618	Frame_Shift_Del	DEL	GAACATG	TCGA-BR-7197-01A-11D-2201-08		301618	154968942	191	38007											
RPS6KA3	6197	broad.mit.edu	37	chrX	20173605	20173605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaactggtgactgattacGgttcaaagcagaatatgtag	10	6	1	3			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chrX:20173605G>A	uc004czu.2	-	22	2134	c.2134C>T	c.(2134-2136)CGT>TGT	p.R712C	RPS6KA3_uc011mjk.1_Missense_Mutation_p.R682C|RPS6KA3_uc004czv.2_Missense_Mutation_p.R699C|RPS6KA3_uc011mjl.1_Missense_Mutation_p.R683C|RPS6KA3_uc011mjm.1_Missense_Mutation_p.R684C	NM_004586	NP_004577	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	712					axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1)	8						GACTGATTACGGTTCAAAGCA	0.433													A	20173605	G	A	20173605	3	1	47	1	0	0	0	0	1	0	0	0	13652	1116	39	1	92	1	RPS6KA3	23	20173605	Missense_Mutation	SNP	G	TCGA-BR-7197-01A-11D-2201-08	19871987	20173605	135096955	192	38008											
ZNF645	158506	broad.mit.edu	37	chrX	22292314	22292314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcaccttgtccaccaacGcggagtccacctccttcaac	6	18	2	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chrX:22292314G>A	uc004dai.1	+	1	1255	c.1206G>A	c.(1204-1206)ACG>ACA	p.T402T		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	402						intracellular	zinc ion binding			lung(1)|pancreas(1)	2						GTCCACCAACGCGGAGTCCAC	0.458													A	22292314	G	A	22292314	2	1	47	1	0	0	0	0	0	0	0	1	18058	1074	38	1		1	ZNF645	23	22292314	Silent	SNP	G	TCGA-BR-7197-01A-11D-2201-08	2118709	22292314	132978246	193	38009											
FAM47C	442444	broad.mit.edu	37	chrX	37028374	37028374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactggagtgtcccatctcCgcccagagcctcccaagact	9	16	1	3	rs140469750	byFrequency	TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chrX:37028374C>T	uc004ddl.1	+	1	1905	c.1891C>T	c.(1891-1893)CGC>TGC	p.R631C		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	631										ovary(3)	3						GTCCCATCTCCGCCCAGAGCC	0.637													T	37028374	C	T	37028374	3	4	47	1	0	0	0	0	1	0	0	0	5571	652	23	1	1893	1	FAM47C	23	37028374	Missense_Mutation	SNP	C	TCGA-BR-7197-01A-11D-2201-08	14736060	37028374	118242186	194	38010											
RBM10	8241	broad.mit.edu	37	chrX	47030564	47030564	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcggaccgagcaaggggaGgaggaggaggaggaggagga	22	4	0	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chrX:47030564G>A	uc004dhf.2	+	4	718	c.339G>A	c.(337-339)GAG>GAA	p.E113E	RBM10_uc004dhe.1_Silent_p.E103E|RBM10_uc004dhg.2_Intron|RBM10_uc004dhh.2_Silent_p.E113E|RBM10_uc010nhq.2_Intron|RBM10_uc004dhi.2_Silent_p.E178E	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	113	Poly-Glu.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						AGCAAGGggaggaggaggagg	0.522													A	47030564	G	A	47030564	2	1	47	1	0	0	0	0	0	0	0	1	13111	991	35	4		4	RBM10	23	47030564	Silent	SNP	G	TCGA-BR-7197-01A-11D-2201-08	10002190	47030564	108239996	195	38011											
WNK3	65267	broad.mit.edu	37	chrX	54228489	54228489	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttaagttggtttaaacTtggcttaataagagaatttc	8	3	0	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chrX:54228489T>G	uc004dtd.1	-	22	5276	c.4837A>C	c.(4837-4839)AGT>CGT	p.S1613R	WNK3_uc004dtc.1_Missense_Mutation_p.S1670R	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1613					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						TGGTTTAAACTTGGCTTAATA	0.363													G	54228489	T	G	54228489	3	3	47	1	0	0	0	0	1	0	0	0	17376	1609	56	5	402	5	WNK3	23	54228489	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	7197925	54228489	101042071	196	38012											
MAGEE1	57692	broad.mit.edu	37	chrX	75648562	75648562	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagggcccaagcacctttgTgccgcccaccatctctgagg	11	15	1	2			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chrX:75648562T>G	uc004ecm.1	+	1	446	c.239T>G	c.(238-240)GTG>GGG	p.V80G		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	80						dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						AGCACCTTTGTGCCGCCCACC	0.682													G	75648562	T	G	75648562	3	3	47	1	0	0	0	0	1	0	0	0	9185	1696	59	5	241	5	MAGEE1	23	75648562	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	21420073	75648562	79621998	197	38013											
ZCCHC16	340595	broad.mit.edu	37	chrX	111698082	111698082	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacactgctaaaaggggccaAgtcatgcctgccctggccac	10	14	1	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chrX:111698082A>C	uc004epo.1	+	3	567	c.126A>C	c.(124-126)CAA>CAC	p.Q42H		NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	42							nucleic acid binding|zinc ion binding			ovary(1)	1						AAAGGGGCCAAGTCATGCCTG	0.522													C	111698082	A	C	111698082	3	2	47	1	0	0	0	0	1	0	0	0	17581	69	3	5	128	5	ZCCHC16	23	111698082	Missense_Mutation	SNP	A	TCGA-BR-7197-01A-11D-2201-08	36049520	111698082	43572478	198	38014											
VGLL1	51442	broad.mit.edu	37	chrX	135638646	135638646	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacacctgggaaatactcacTtacaccaccaaaccactggg	7	14	1	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chrX:135638646T>G	uc004ezy.2	+	5	895	c.725T>G	c.(724-726)CTT>CGT	p.L242R		NM_016267	NP_057351	Q99990	VGLL1_HUMAN	vestigial like 1	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity				0	Acute lymphoblastic leukemia(192;0.000127)					AAATACTCACTTACACCACCA	0.478													G	135638646	T	G	135638646	3	3	47	1	0	0	0	0	1	0	0	0	17155	1609	56	5	739	5	VGLL1	23	135638646	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	23940564	135638646	19631914	199	38015											
UBE2NL	389898	broad.mit.edu	37	chrX	142967519	142967519	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagatccgcacagttcTgctatcgatccaggccttgt	9	14	1	1			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chrX:142967519T>C	uc004fca.2	+	1	347	c.317T>C	c.(316-318)CTG>CCG	p.L106P		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	106							acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)					CGCACAGTTCTGCTATCGATC	0.423													C	142967519	T	C	142967519	3	2	47	1	0	0	0	0	1	0	0	0	16864	1580	55	3	319	3	UBE2NL	23	142967519	Missense_Mutation	SNP	T	TCGA-BR-7197-01A-11D-2201-08	7328873	142967519	12303041	200	38016											
MAGEA12	4111	broad.mit.edu	37	chrX	151896589	151896589	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttggtgggtggttgttggaCaatgggctggaggctcgtgg	21	4	0	0			TCGA-BR-7197-01A-11D-2201-08	TCGA-BR-7197-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce737023-df0f-4b98-a1bf-695c7ef3ea71	08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc	g.chrX:151896589C>A	uc004fgb.2	-	3		c.388G>T						P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12, mRNA (cDNA clone MGC:4914 IMAGE:3450217), complete cds.											skin(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGTTGGACAATGGGCTGG	0.557													A	151896589	C	A	151896589	1	1	47	0	1	0	0	0	0	0	0	0	9166	493	17	5		5	MAGEA12	23	151896589	RNA	SNP	C	TCGA-BR-7197-01A-11D-2201-08	8929070	151896589	3373971	201	38017											
SCNN1D	6339	broad.mit.edu	37	chr1	1222953	1222953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgatggcgtctggacagCtcagcgccccggcatcaccc	13	16	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:1222953C>T	uc001adu.1	+	9	1508	c.884C>T	c.(883-885)GCT>GTT	p.A295V	SCNN1D_uc001adt.1_Missense_Mutation_p.A459V|SCNN1D_uc001adw.2_Missense_Mutation_p.A361V|SCNN1D_uc001adx.2_Missense_Mutation_p.L59F|SCNN1D_uc001adv.2_Missense_Mutation_p.A295V	NM_002978	NP_002969			sodium channel, nonvoltage-gated 1, delta												0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GTCTGGACAGCTCAGCGCCCC	0.667													T	1222953	C	T	1222953	3	4	48	1	0	0	0	0	1	0	0	0	13929	797	28	2	1108	2	SCNN1D	1	1222953	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08		1222953	248027668	1	38018											
PLCH2	9651	broad.mit.edu	37	chr1	2436102	2436102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggctggcctccccttccGgcctccctggggctgccttt	12	17	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:2436102G>A	uc001aji.1	+	22	3975	c.3701G>A	c.(3700-3702)CGG>CAG	p.R1234Q	PLCH2_uc010nyz.1_3'UTR|PLCH2_uc009vle.1_Missense_Mutation_p.R986Q|PLCH2_uc001ajj.1_3'UTR|PLCH2_uc001ajk.1_3'UTR|PLCH2_uc001ajl.1_Missense_Mutation_p.R86Q	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	1234					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CTCCCCTTCCGGCCTCCCTGG	0.662													A	2436102	G	A	2436102	3	1	48	1	0	0	0	0	1	0	0	0	12038	1116	39	1	3787	1	PLCH2	1	2436102	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1213149	2436102	246814519	2	38019											
UTS2	10911	broad.mit.edu	37	chr1	7910968	7910968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccggagttaagcgcgCgtcttcatgaggtgctacag	12	12	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:7910968C>T	uc001aor.2	-	2	159	c.118G>A	c.(118-120)GCG>ACG	p.A40T	UTS2_uc001aoq.2_Missense_Mutation_p.A40T|UTS2_uc001aos.2_Missense_Mutation_p.A55T	NM_006786	NP_006777	O95399	UTS2_HUMAN	urotensin 2 isoform b preproprotein	40					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity				0	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		GTTAAGCGCGCGTCTTCATGA	0.463													T	7910968	C	T	7910968	3	4	48	1	0	0	0	0	1	0	0	0	17101	768	27	1	268	1	UTS2	1	7910968	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	5474866	7910968	241339653	3	38020											
AADACL3	126767	broad.mit.edu	37	chr1	12779678	12779678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaccacggtggcgggggcGtcatggggagtttgagtaag	18	7	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:12779678G>A	uc009vnn.1	+	2	432	c.199G>A	c.(199-201)GTC>ATC	p.V67I	AADACL3_uc001aug.1_Intron	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3 isoform 1	67							hydrolase activity				0	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCGGGGGCGTCATGGGGAG	0.527													A	12779678	G	A	12779678	3	1	48	1	0	0	0	0	1	0	0	0	12	1145	40	1	209	1	AADACL3	1	12779678	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	4868710	12779678	236470943	4	38021											
MFAP2	4237	broad.mit.edu	37	chr1	17303033	17303033	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggctccagctctgcattTcctggttctggtgtggagac	14	10	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:17303033T>C	uc001azw.2	-	6	382	c.249A>G	c.(247-249)GGA>GGG	p.G83G	MFAP2_uc001azx.2_Silent_p.G82G|MFAP2_uc001azy.2_Silent_p.G83G|MFAP2_uc010ocl.1_Silent_p.G82G	NM_002403	NP_002394	P55001	MFAP2_HUMAN	microfibrillar-associated protein 2 isoform a	83						microfibril					0		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCTCTGCATTTCCTGGTTCTG	0.607													C	17303033	T	C	17303033	2	2	48	1	0	0	0	0	0	0	0	1	9514	1770	62	3		3	MFAP2	1	17303033	Silent	SNP	T	TCGA-BR-7703-01A-11D-2053-08	4523355	17303033	231947588	5	38022											
PADI3	51702	broad.mit.edu	37	chr1	17609510	17609510	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacatgctgcatggggaggTgcactgtggcaccaatgtgt	14	10	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:17609510T>C	uc001bai.2	+	16	1971	c.1931T>C	c.(1930-1932)GTG>GCG	p.V644A		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	644					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CATGGGGAGGTGCACTGTGGC	0.602													C	17609510	T	C	17609510	3	2	48	1	0	0	0	0	1	0	0	0	11379	1696	59	3	1993	3	PADI3	1	17609510	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	306477	17609510	231641111	6	38023											
PADI4	23569	broad.mit.edu	37	chr1	17657500	17657500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacgtccttcagcatcaaCgcctccccaggggtggtcgt	11	15	2	0	rs138052968		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:17657500C>T	uc001baj.2	+	2	157	c.129C>T	c.(127-129)AAC>AAT	p.N43N	PADI4_uc009vpc.2_Silent_p.N43N	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	43					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TCAGCATCAACGCCTCCCCAG	0.617													T	17657500	C	T	17657500	2	4	48	1	0	0	0	0	0	0	0	1	11380	535	19	1		1	PADI4	1	17657500	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	47990	17657500	231593121	7	38024											
HSPG2	3339	broad.mit.edu	37	chr1	22222727	22222727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggtacgaatgtgtccagCgcatttggcttgctgtgacg	13	8	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:22222727C>T	uc001bfj.2	-	2	180	c.140G>A	c.(139-141)CGC>CAC	p.R47H	HSPG2_uc009vqd.2_Missense_Mutation_p.R47H|HSPG2_uc009vqe.1_Missense_Mutation_p.R2H	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	47					angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ATGTGTCCAGCGCATTTGGCT	0.562													T	22222727	C	T	22222727	3	4	48	1	0	0	0	0	1	0	0	0	7430	768	27	1	13419	1	HSPG2	1	22222727	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	4565227	22222727	227027894	8	38025											
HMGN2	3151	broad.mit.edu	37	chr1	26801138	26801138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaataaccctgcagaaaatGgagatgccaaaacagaccag	10	9	0	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:26801138G>A	uc001bmp.3	+	5	419	c.217G>A	c.(217-219)GGA>AGA	p.G73R	HMGN2_uc009vsk.2_Missense_Mutation_p.G58R|HMGN2_uc001bmq.3_Missense_Mutation_p.M106I	NM_005517	NP_005508	P05204	HMGN2_HUMAN	high-mobility group nucleosomal binding domain	73					chromatin organization|regulation of transcription, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding|protein binding				0		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TGCAGAAAATGGAGATGCCAA	0.398													A	26801138	G	A	26801138	3	1	48	1	0	0	0	0	1	0	0	0	7235	1349	47	4	235	4	HMGN2	1	26801138	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	4578411	26801138	222449483	9	38026											
WDTC1	23038	broad.mit.edu	37	chr1	27589647	27589647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttctgtcccctaggagcGgggtgccctgagctttgagc	14	11	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:27589647G>A	uc009vst.2	+	3	588	c.53G>A	c.(52-54)CGG>CAG	p.R18Q	WDTC1_uc001bno.2_Missense_Mutation_p.R18Q|WDTC1_uc001bnp.1_RNA	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	18							protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CCCTAGGAGCGGGGTGCCCTG	0.378													A	27589647	G	A	27589647	3	1	48	1	0	0	0	0	1	0	0	0	17339	1116	39	1	59	1	WDTC1	1	27589647	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	788509	27589647	221660974	10	38027											
SMPDL3B	27293	broad.mit.edu	37	chr1	28282576	28282576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgttcgaatatgaccgaGccacactgagcctgaaggtc	13	10	0	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:28282576G>A	uc001bpg.2	+	7	1179	c.988G>A	c.(988-990)GCC>ACC	p.A330T	SMPDL3B_uc001bpf.2_Missense_Mutation_p.A330T|SMPDL3B_uc010ofq.1_Missense_Mutation_p.A124T|SMPDL3B_uc010ofr.1_Missense_Mutation_p.A282T	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	acid sphingomyelinase-like phosphodiesterase 3B	330					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			ovary(3)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		ATATGACCGAGCCACACTGAG	0.557													A	28282576	G	A	28282576	3	1	48	1	0	0	0	0	1	0	0	0	14809	971	34	2	1014	2	SMPDL3B	1	28282576	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	692929	28282576	220968045	11	38028											
LAPTM5	7805	broad.mit.edu	37	chr1	31206723	31206723	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcccccctctggggtcttCgatggcaaagacagggcttc	14	13	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:31206723C>T	uc001bsc.2	-	8	832	c.741G>A	c.(739-741)TCG>TCA	p.S247S		NM_006762	NP_006753	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	247	Pro-rich.				transport	integral to plasma membrane|lysosomal membrane					0		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGGTCTTCGATGGCAAAG	0.612													T	31206723	C	T	31206723	2	4	48	1	0	0	0	0	0	0	0	1	8626	871	31	1		1	LAPTM5	1	31206723	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2924147	31206723	218043898	12	38029											
SERINC2	347735	broad.mit.edu	37	chr1	31901827	31901827	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggtcctcttgccaggaCgcccagcccaactcgggtct	12	16	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:31901827C>T	uc010ogh.1	+	7	996	c.795C>T	c.(793-795)GAC>GAT	p.D265D	SERINC2_uc010ogg.1_Silent_p.D262D|SERINC2_uc001bst.2_Silent_p.D261D|SERINC2_uc001bsu.2_Silent_p.D206D|SERINC2_uc001bsv.2_Silent_p.D206D	NM_178865	NP_849196	Q96SA4	SERC2_HUMAN	tumor differentially expressed 2-like	261						integral to membrane					0		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CTTGCCAGGACGCCCAGCCCA	0.617													T	31901827	C	T	31901827	2	4	48	1	0	0	0	0	0	0	0	1	14080	535	19	1		1	SERINC2	1	31901827	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	695104	31901827	217348794	13	38030											
CSMD2	114784	broad.mit.edu	37	chr1	34291301	34291301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggcggacacttacacaCagacgtcttctggctgttgt	13	11	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:34291301C>T	uc001bxn.1	-	7	1017	c.988G>A	c.(988-990)GTG>ATG	p.V330M	CSMD2_uc001bxm.1_Missense_Mutation_p.V370M	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	330	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACTTACACACAGACGTCTTC	0.542													T	34291301	C	T	34291301	3	4	48	1	0	0	0	0	1	0	0	0	3945	478	17	4	9727	4	CSMD2	1	34291301	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2389474	34291301	214959320	14	38031											
RSPO1	284654	broad.mit.edu	37	chr1	38078483	38078483	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttgctgctgctgctgttGctgccccttgcgtcttcgag	11	15	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:38078483G>A	uc001cbl.1	-	8	1524	c.736C>T	c.(736-738)CAA>TAA	p.Q246*	RSPO1_uc001cbm.1_Nonsense_Mutation_p.Q246*|RSPO1_uc009vvf.1_Nonsense_Mutation_p.Q219*|RSPO1_uc009vvg.1_Nonsense_Mutation_p.Q183*	NM_001038633	NP_001033722	Q2MKA7	RSPO1_HUMAN	R-spondin1 precursor	246					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCTGCTGTTGCTGCCCCTTG	0.642													A	38078483	G	A	38078483	4	1	48	1	0	0	0	0	0	1	0	0	13709	1328	46	2	59	2	RSPO1	1	38078483	Nonsense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	3787182	38078483	211172138	15	38032											
EPHA10	284656	broad.mit.edu	37	chr1	38186494	38186494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccatggctcatgtactcGgtgacaatcatcaaggtgct	10	12	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:38186494G>A	uc009vvi.2	-	12	2255	c.2169C>T	c.(2167-2169)ACC>ACT	p.T723T	EPHA10_uc001cbt.2_5'Flank|EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	723	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCATGTACTCGGTGACAATCA	0.592													A	38186494	G	A	38186494	2	1	48	1	0	0	0	0	0	0	0	1	5166	1103	39	1		1	EPHA10	1	38186494	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	108011	38186494	211064127	16	38033											
ZMPSTE24	10269	broad.mit.edu	37	chr1	40735792	40735792	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgttcacattagttgTgtctctggtgagtaaaatct	10	7	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:40735792T>C	uc001cfg.2	+	5	831	c.620T>C	c.(619-621)GTG>GCG	p.V207A		NM_005857	NP_005848	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	207	Helical; (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity				0	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			ACATTAGTTGTGTCTCTGGTG	0.338													C	40735792	T	C	40735792	3	2	48	1	0	0	0	0	1	0	0	0	17695	1696	59	3	638	3	ZMPSTE24	1	40735792	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	2549298	40735792	208514829	17	38034											
SMAP2	64744	broad.mit.edu	37	chr1	40878734	40878735	+	Frame_Shift_Ins	INS	-	-	A													gggagcgaaccagttccagaINSaaaaaaattggaacctgttg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:40878733_40878734G>GA	uc001cfj.3	+	4	863_864	c.448_449G>GA	c.(448-450)gaafs	p.E150fs	SMAP2_uc010ojh.2_Frame_Shift_Ins_p.E150fs|SMAP2_uc001cfk.3_Frame_Shift_Ins_p.E120fs|SMAP2_uc021oma.1_Frame_Shift_Ins_p.E145fs|SMAP2_uc010oji.2_Frame_Shift_Ins_p.E70fs|SMAP2_uc010ojj.2_5'Flank	NM_022733	NP_001185909	Q8WU79	SMAP2_HUMAN	Homo sapiens small ArfGAP2 (SMAP2), transcript variant 1, mRNA.	150					regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			ACCAGTTCCAGAAAAAAAATTG	0.381													A	40878735	-	A	40878734	7	5	48	1	0	1	1	0	0	0	0	0	14767	246	9	0	467	0	SMAP2	1	40878734	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	142942	40878734	208371887	18	38035											
CLDN19	149461	broad.mit.edu	37	chr1	43200768	43200768	+	Frame_Shift_Del	DEL	G	G	-													gactggacattacacacccaGggggcccttggcggaggcgg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:43200767_43200767AG>A	uc001cht.1	-	4	856	c.665_665CT>T	c.(664-666)ctgfs	p.L222fs	CLDN19_uc001chu.2_3'UTR|CLDN19_uc010ojv.1_3'UTR	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	Homo sapiens claudin 19 (CLDN19), transcript variant 1, mRNA.	222					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTACACACCCAGGGGGCCCTT	0.547													-	43200768	G	-	43200768	7	5	48	1	0	1	0	1	0	0	0	0	3480	991	35	0	14	0	CLDN19	1	43200768	Frame_Shift_Del	DEL	G	TCGA-BR-7703-01A-11D-2053-08	2322034	43200768	206049853	19	38036											
TESK2	10420	broad.mit.edu	37	chr1	45812430	45812432	+	In_Frame_Del	DEL	CAT	CAT	-													tcccaccatgtgctggaaagCatcatagtccagcccgaaat							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:45812429_45812431GCAT>G	uc001cns.1	-	8	1216_1218	c.813_815ATGC>C	c.(811-816)gatgct>gaCt	p.A272del	TESK2_uc009vxr.1_Intron|TESK2_uc010olo.1_In_Frame_Del_p.A189del|TESK2_uc009vxs.1_In_Frame_Del_p.A64del	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	Homo sapiens testis-specific kinase 2 (TESK2), mRNA.	272	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					GTGCTGGAAAGCATCATAGTCCA	0.498													-	45812432	CAT	-	45812430	7	5	48	1	0	1	0	1	0	0	0	0	15765	710	25	0	913	0	TESK2	1	45812430	In_Frame_Del	DEL	CAT	TCGA-BR-7703-01A-11D-2053-08	2611662	45812430	203438191	20	38037											
CYP4X1	260293	broad.mit.edu	37	chr1	47489498	47489500	+	In_Frame_Del	DEL	CTC	CTC	-													ctgcgcagagccatggaattCtcctggctggagacgcgctg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:47489497_47489499TCTC>T	uc001cqt.3	+	0	258_260	c.8_10TCTC>T	c.(7-12)ttctcc>tTcc	p.S4del	CYP4X1_uc001cqr.3_Intron|CYP4X1_uc001cqs.3_Intron	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	4						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						GCCATGGAATTCTCCTGGCTGGA	0.695													-	47489500	CTC	-	47489498	7	5	48	1	0	1	0	1	0	0	0	0	4193	912	32	0	11	0	CYP4X1	1	47489498	In_Frame_Del	DEL	CTC	TCGA-BR-7703-01A-11D-2053-08	1677068	47489498	201761123	21	38038											
CYP4Z1	199974	broad.mit.edu	37	chr1	47534390	47534390	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccctttacgatgttcttcAgtgtccatgacccagactat	7	12	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:47534390A>C	uc001cqu.1	+	2	277	c.274A>C	c.(274-276)AGT>CGT	p.S92R		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	cytochrome P450 4Z1	92	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			skin(1)	1						GATGTTCTTCAGTGTCCATGA	0.458													C	47534390	A	C	47534390	3	2	48	1	0	0	0	0	1	0	0	0	4194	188	7	5	280	5	CYP4Z1	1	47534390	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	44892	47534390	201716231	22	38039											
TAL1	6886	broad.mit.edu	37	chr1	47691501	47691501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgctggcctcggccgcGtcccgtccctctagctgggg	14	17	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:47691501G>A	uc001cqx.2	-	2	637	c.60C>T	c.(58-60)GAC>GAT	p.D20D	TAL1_uc009vyq.2_5'Flank|TAL1_uc001cqy.2_Silent_p.D20D|TAL1_uc001cra.1_Intron|TAL1_uc001cqz.1_Intron	NM_003189	NP_003180	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	20					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			lung(1)	1						CCTCGGCCGCGTCCCGTCCCT	0.721			T	TRD@|SIL	lymphoblastic leukemia/biphasic								A	47691501	G	A	47691501	2	1	48	1	0	0	0	0	0	0	0	1	15538	1136	40	1		1	TAL1	1	47691501	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	157111	47691501	201559120	23	38040											
ZCCHC11	23318	broad.mit.edu	37	chr1	52924124	52924124	+	Splice_Site	DEL	A	A	-													atccccaatgtcacatcgctAaaaaacaacatgattgaaaa							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:52924123_52924123TA>T	uc001cty.2	-	20	3575	c.3322_splice	c.e20-1	p.R1108_splice	ZCCHC11_uc001ctx.2_Splice_Site_p.R1108_splice|ZCCHC11_uc009vze.1_Splice_Site_p.R1108_splice|ZCCHC11_uc009vzf.1_Intron	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	1108					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GTCACATCGCTAAAAAACAAC	0.388													-	52924124	A	-	52924124	8	5	48	1	0	1	0	1	0	0	1	0	17577	377	13	0		0	ZCCHC11	1	52924124	Splice_Site	DEL	A	TCGA-BR-7703-01A-11D-2053-08	5232623	52924124	196326497	24	38041											
FAM159A	348378	broad.mit.edu	37	chr1	53099298	53099298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accacaagtactgctgcgacGacccgcacagcttcttcccc	7	18	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:53099298G>A	uc001cuf.2	+	1	233	c.133G>A	c.(133-135)GAC>AAC	p.D45N	FAM159A_uc001cug.1_RNA|FAM159A_uc001cuh.2_RNA	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN	hypothetical protein LOC348378	45						integral to membrane					0						CTGCTGCGACGACCCGCACAG	0.537													A	53099298	G	A	53099298	3	1	48	1	0	0	0	0	1	0	0	0	5468	1058	37	1	135	1	FAM159A	1	53099298	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	175174	53099298	196151323	25	38042											
PODN	127435	broad.mit.edu	37	chr1	53542968	53542968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtccagcaacttcctgCgccacgtgcccaagcacctg	8	18	0	0	rs149007009		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:53542968C>T	uc001cuv.2	+	6	839	c.832C>T	c.(832-834)CGC>TGC	p.R278C	PODN_uc001cuw.2_Missense_Mutation_p.R259C|PODN_uc010onr.1_Missense_Mutation_p.R259C|PODN_uc010ons.1_Intron	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	230	LRR 6.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	p.R278H(1)		ovary(1)|pancreas(1)	2						CAACTTCCTGCGCCACGTGCC	0.642													T	53542968	C	T	53542968	3	4	48	1	0	0	0	0	1	0	0	0	12178	768	27	1	854	1	PODN	1	53542968	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	443670	53542968	195707653	26	38043											
C1orf175	374977	broad.mit.edu	37	chr1	55119781	55119781	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcccgctgggattccccatCtccaaccccgcaggcaagga	9	17	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:55119781C>A	uc010ooe.1	+	3	1506	c.1182C>A	c.(1180-1182)ATC>ATA	p.I394I	C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Silent_p.I394I|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.I394I|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	394						integral to membrane	binding				0						GATTCCCCATCTCCAACCCCG	0.602													A	55119781	C	A	55119781	2	1	48	1	0	0	0	0	0	0	0	1	2016	903	32	5		5	C1orf175	1	55119781	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1576813	55119781	194130840	27	38044											
ANGPTL3	27329	broad.mit.edu	37	chr1	63068014	63068014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacaaaacttcaatgaaacGtgggagaactacaaatatgg	8	7	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:63068014G>A	uc001das.1	+	5	945	c.894G>A	c.(892-894)ACG>ACA	p.T298T	DOCK7_uc001dan.2_Intron|DOCK7_uc001dao.2_Intron|DOCK7_uc001dap.2_Intron|DOCK7_uc001daq.2_Intron|DOCK7_uc009wah.1_Intron	NM_014495	NP_055310	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3 precursor	298	Fibrinogen C-terminal.				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity				0						TCAATGAAACGTGGGAGAACT	0.269													A	63068014	G	A	63068014	2	1	48	1	0	0	0	0	0	0	0	1	615	1132	40	1		1	ANGPTL3	1	63068014	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	7948233	63068014	186182607	28	38045											
FOXD3	27022	broad.mit.edu	37	chr1	63789968	63789968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagggggcggcagcacggcGcagtcgtttctgcggccacc	16	14	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:63789968G>A	uc001dax.2	+	1	1239	c.1239G>A	c.(1237-1239)GCG>GCA	p.A413A		NM_012183	NP_036315	Q9UJU5	FOXD3_HUMAN	forkhead box D3	413					axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						GCAGCACGGCGCAGTCGTTTC	0.736													A	63789968	G	A	63789968	2	1	48	1	0	0	0	0	0	0	0	1	5998	1074	38	1		1	FOXD3	1	63789968	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	721954	63789968	185460653	29	38046											
CACHD1	57685	broad.mit.edu	37	chr1	65143941	65143941	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccccccagaaagaatgcttCggggggattgtgggagccaa	15	10	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:65143941C>T	uc001dbo.1	+	23	3144	c.3039C>T	c.(3037-3039)TTC>TTT	p.F1013F	CACHD1_uc001dbp.1_Silent_p.F768F|CACHD1_uc001dbq.1_Silent_p.F768F|CACHD1_uc010opa.1_Silent_p.F257F	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	1064	Extracellular (Potential).				calcium ion transport	integral to membrane				ovary(2)	2						AAGAATGCTTCGGGGGGATTG	0.473													T	65143941	C	T	65143941	2	4	48	1	0	0	0	0	0	0	0	1	2537	883	31	1		1	CACHD1	1	65143941	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1353973	65143941	184106680	30	38047											
LHX8	431707	broad.mit.edu	37	chr1	75606736	75606736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaacctccctaggaaggCacaccagctgttatattaaa	8	11	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:75606736C>T	uc001dgo.2	+	5	998	c.334C>T	c.(334-336)CAC>TAC	p.H112Y	LHX8_uc001dgq.2_Missense_Mutation_p.H51Y	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	LIM homeobox 8	112	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CCTAGGAAGGCACACCAGCTG	0.393													T	75606736	C	T	75606736	3	4	48	1	0	0	0	0	1	0	0	0	8776	710	25	2	348	2	LHX8	1	75606736	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	10462795	75606736	173643885	31	38048											
ATXN7L2	127002	broad.mit.edu	37	chr1	110031590	110031590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggagaagagcccagggcGcaaggagcaagttctcgagc	15	10	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:110031590G>A	uc001dxr.2	+	7	920	c.905G>A	c.(904-906)CGC>CAC	p.R302H	ATXN7L2_uc001dxs.2_5'UTR|ATXN7L2_uc001dxt.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	302										ovary(2)	2		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGCCCAGGGCGCAAGGAGCAA	0.647													A	110031590	G	A	110031590	3	1	48	1	0	0	0	0	1	0	0	0	1217	1087	38	1	931	1	ATXN7L2	1	110031590	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	34424854	110031590	139219031	32	38049											
GPR61	83873	broad.mit.edu	37	chr1	110086456	110086456	+	Frame_Shift_Del	DEL	C	C	-													gatggtcaccagctcgggggCcccccagaccaccccacacc							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:110086456delC	uc001dxy.2	+	2	1495	c.812delC	c.(811-813)GCCfs	p.A271fs		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	271	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGCTCGGGGGCCCCCCAGACC	0.662													-	110086456	C	-	110086456	7	5	48	1	0	1	0	1	0	0	0	0	6702	739	26	0	814	0	GPR61	1	110086456	Frame_Shift_Del	DEL	C	TCGA-BR-7703-01A-11D-2053-08	54866	110086456	139164165	33	38050											
AHCYL1	10768	broad.mit.edu	37	chr1	110559020	110559020	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttccggccatgaacgtcaaTgattctgttaccaaacagaa	8	10	2	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:110559020T>C	uc001dyx.2	+	8	1204	c.837T>C	c.(835-837)AAT>AAC	p.N279N	AHCYL1_uc010ovw.1_Silent_p.N232N|AHCYL1_uc001dyy.2_Silent_p.N232N|AHCYL1_uc010ovx.1_Silent_p.N232N	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	279					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		TGAACGTCAATGATTCTGTTA	0.413													C	110559020	T	C	110559020	2	2	48	1	0	0	0	0	0	0	0	1	410	1461	51	3		3	AHCYL1	1	110559020	Silent	SNP	T	TCGA-BR-7703-01A-11D-2053-08	472564	110559020	138691601	34	38051											
OVGP1	5016	broad.mit.edu	37	chr1	111959068	111959069	+	Frame_Shift_Ins	INS	-	-	T													cccccaaaatgctctcgcctINStataaaccatgcctgtaaaa							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:111959067_111959068C>CT	uc001eba.3	-	9	1089_1090	c.1033_1034G>AG	c.(1033-1035)aggfs	p.R345fs	OVGP1_uc001eaz.3_Frame_Shift_Ins_p.R307fs|OVGP1_uc010owb.2_5'UTR	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	345					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		ATGCTCTCGCCTTATAAACCAT	0.5													T	111959069	-	T	111959068	7	5	48	1	0	1	1	0	0	0	0	0	11325	1608	56	0	1011	0	OVGP1	1	111959068	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	1400048	111959068	137291553	35	38052											
SPAG17	200162	broad.mit.edu	37	chr1	118514590	118514590	+	Frame_Shift_Del	DEL	A	A	-													gatgggagaagatggaacccAaaaagggatgactttgcatt							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:118514589_118514589CA>C	uc001ehk.2	-	44	6291	c.6223_6223TG>G	c.(6223-6225)gggfs	p.G2075fs	SPAG17_uc021osr.1_Frame_Shift_Del_p.G585fs	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	2075						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGATGGAACCCAAAAAGGGAT	0.413													-	118514590	A	-	118514590	7	5	48	1	0	1	0	1	0	0	0	0	14979	127	5	0	465	0	SPAG17	1	118514590	Frame_Shift_Del	DEL	A	TCGA-BR-7703-01A-11D-2053-08	6555522	118514590	130736031	36	38053											
WARS2	10352	broad.mit.edu	37	chr1	119575742	119575742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcatgcccgcgctgcggCgcaccacttcctccacggag	11	17	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:119575742C>T	uc001ehn.2	-	6	903	c.875G>A	c.(874-876)CGC>CAC	p.R292H	WARS2_uc010oxf.1_Missense_Mutation_p.R198H|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.R235H|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	292					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CGCGCTGCGGCGCACCACTTC	0.602													T	119575742	C	T	119575742	3	4	48	1	0	0	0	0	1	0	0	0	17247	768	27	1	211	1	WARS2	1	119575742	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1061152	119575742	129674879	37	38054											
VPS45	11311	broad.mit.edu	37	chr1	150053479	150053479	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cataaacaacaatcggattgAtctttccagagtgccgggaa	9	9	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:150053479A>G	uc001etp.2	+	8	1316	c.743A>G	c.(742-744)GAT>GGT	p.D248G	VPS45_uc010pbp.1_RNA|VPS45_uc010pbq.1_Missense_Mutation_p.D212G|VPS45_uc010pbs.1_Missense_Mutation_p.D143G|VPS45_uc001etq.2_Missense_Mutation_p.D68G|VPS45_uc009wlm.1_Missense_Mutation_p.D224G|VPS45_uc010pbr.1_Intron	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45A	248					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				central_nervous_system(1)|skin(1)	2	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AATCGGATTGATCTTTCCAGA	0.358													G	150053479	A	G	150053479	3	3	48	1	0	0	0	0	1	0	0	0	17208	333	12	3	773	3	VPS45	1	150053479	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	30477737	150053479	99197142	38	38055											
SEMA6C	10500	broad.mit.edu	37	chr1	151110223	151110225	+	In_Frame_Del	DEL	GAA	GAA	-													tcctccacagagacctcgcgGaagaagaagtagacatggtc							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:151110222_151110224GGAA>G	uc001ewv.3	-	9	1055_1057	c.719_721TTCC>C	c.(718-723)ttccgc>tCgc	p.240_241FR>S	SEMA6C_uc001ewu.3_In_Frame_Del_p.240_241FR>S|SEMA6C_uc001eww.3_In_Frame_Del_p.200_201FR>S|SEMA6C_uc009wml.2_Non-coding_Transcript	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	240	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGACCTCGCGGAAGAAGAAGTA	0.557													-	151110225	GAA	-	151110223	7	5	48	1	0	1	0	1	0	0	0	0	14041	1165	41	0	2212	0	SEMA6C	1	151110223	In_Frame_Del	DEL	GAA	TCGA-BR-7703-01A-11D-2053-08	1056744	151110223	98140398	39	38056											
CELF3	11189	broad.mit.edu	37	chr1	151680108	151680108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgagccgctaccagggccGcctgctgctgcatcagctgg	14	14	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:151680108G>A	uc001eys.1	-	7	1441	c.647C>T	c.(646-648)GCG>GTG	p.A216V	CELF3_uc010pdh.1_Missense_Mutation_p.A24V|CELF3_uc001eyr.2_Missense_Mutation_p.A215V|CELF3_uc009wmy.2_Missense_Mutation_p.A216V|CELF3_uc009wmx.1_Missense_Mutation_p.A216V|CELF3_uc001eyt.2_Missense_Mutation_p.A139V|C1orf230_uc001eyu.2_5'Flank	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN	trinucleotide repeat containing 4	216					nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			ovary(1)|central_nervous_system(1)	2						TACCAGGGCCGCCTGCTGCTG	0.682													A	151680108	G	A	151680108	3	1	48	1	0	0	0	0	1	0	0	0	3217	1087	38	1	774	1	CELF3	1	151680108	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	569885	151680108	97570513	40	38057											
NPR1	4881	broad.mit.edu	37	chr1	153658636	153658636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacgtgtgaaccgtaaacGcattgagctgacacgaaaag	11	8	0	3	rs145787747		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:153658636G>A	uc001fcs.3	+	10	2139	c.1718G>A	c.(1717-1719)CGC>CAC	p.R573H	NPR1_uc010pdz.1_Missense_Mutation_p.R319H|NPR1_uc010pea.1_Intron	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	573	Cytoplasmic (Potential).|Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|stomach(1)|breast(1)	7	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	AACCGTAAACGCATTGAGCTG	0.547													A	153658636	G	A	153658636	3	1	48	1	0	0	0	0	1	0	0	0	10594	1087	38	1	1756	1	NPR1	1	153658636	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1978528	153658636	95591985	41	38058											
TDRD10	126668	broad.mit.edu	37	chr1	154493908	154493908	+	Frame_Shift_Del	DEL	C	C	-													tcgtgaatacaagcaaaaggCcccccaagaggacccctgat							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:154493907_154493907GC>G	uc009wow.3	+	5	1159	c.321_321GC>G	c.(319-321)aggfs	p.R107fs	TDRD10_uc001ffd.3_Frame_Shift_Del_p.R107fs|TDRD10_uc001ffe.3_Frame_Shift_Del_p.R28fs	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	107	RRM.						RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAAGCAAAAGGCCCCCCAAGA	0.517													-	154493908	C	-	154493908	7	5	48	1	0	1	0	1	0	0	0	0	15728	739	26	0	340	0	TDRD10	1	154493908	Frame_Shift_Del	DEL	C	TCGA-BR-7703-01A-11D-2053-08	835272	154493908	94756713	42	38059											
KCNN3	3782	broad.mit.edu	37	chr1	154842106	154842106	+	Frame_Shift_Del	DEL	G	G	-													tggcggtggagttggacgaaGggggggccctgaaagcggtg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:154842106delG	uc001ffp.2	-	1	649	c.335delC	c.(334-336)CCTfs	p.P112fs	KCNN3_uc009wox.1_Frame_Shift_Del_p.P112fs	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	117						integral to membrane	calmodulin binding			lung(1)	1	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GTTGGACGAAGGGGGGGCCCT	0.612													-	154842106	G	-	154842106	7	5	48	1	0	1	0	1	0	0	0	0	8080	1000	35	0	1914	0	KCNN3	1	154842106	Frame_Shift_Del	DEL	G	TCGA-BR-7703-01A-11D-2053-08	348198	154842106	94408515	43	38060											
ASH1L	55870	broad.mit.edu	37	chr1	155317682	155317682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcccaactggggatttaCgcccatagtacttctgaaga	8	12	2	2	rs41264231	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:155317682C>T	uc009wqq.2	-	20	8063	c.7583G>A	c.(7582-7584)CGT>CAT	p.R2528H	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.R2523H|MIR555_hsa-mir-555|MI0003561_5'Flank	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2528	Bromo.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGGGGATTTACGCCCATAGTA	0.433													T	155317682	C	T	155317682	3	4	48	1	0	0	0	0	1	0	0	0	1041	536	19	1	1362	1	ASH1L	1	155317682	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	475576	155317682	93932939	44	38061											
SEMA4A	64218	broad.mit.edu	37	chr1	156142686	156142686	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atttcctgatggatgagcaaGtggtggggacgcccctgctg	15	9	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:156142686G>C	uc001fnl.2	+	11	1308	c.1204G>C	c.(1204-1206)GTG>CTG	p.V402L	SEMA4A_uc009wrq.2_Missense_Mutation_p.V402L|SEMA4A_uc001fnm.2_Missense_Mutation_p.V402L|SEMA4A_uc001fnn.2_Missense_Mutation_p.V270L|SEMA4A_uc001fno.2_Missense_Mutation_p.V402L	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	402	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					GGATGAGCAAGTGGTGGGGAC	0.567													C	156142686	G	C	156142686	3	2	48	1	0	0	0	0	1	0	0	0	14031	1029	36	5	1242	5	SEMA4A	1	156142686	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	825004	156142686	93107935	45	38062											
RHBG	57127	broad.mit.edu	37	chr1	156339053	156339053	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cccaacccatggccgggtctCctagccgcgccgcgggccgg	14	19	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:156339053C>A	uc010pho.1	+	1	51	c.13C>A	c.(13-15)CCT>ACT	p.P5T	RHBG_uc010phm.1_Missense_Mutation_p.P5T|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_5'UTR|RHBG_uc009wrz.2_5'UTR|RHBG_uc001for.2_5'UTR	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Rhesus blood group, B glycoprotein	5	Cytoplasmic (Potential).				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			ovary(2)	2	Hepatocellular(266;0.158)					GGCCGGGTCTCCTAGCCGCGC	0.682													A	156339053	C	A	156339053	3	1	48	1	0	0	0	0	1	0	0	0	13324	855	30	5	15	5	RHBG	1	156339053	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	196367	156339053	92911568	46	38063											
SH2D2A	9047	broad.mit.edu	37	chr1	156779466	156779466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatacctccttctccccgGccccctctttctgcatcggg	6	20	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:156779466G>A	uc001fqd.2	-	6	841	c.701C>T	c.(700-702)GCC>GTC	p.A234V	SH2D2A_uc001fqc.1_Missense_Mutation_p.A206V|SH2D2A_uc009wsh.2_Missense_Mutation_p.A244V|SH2D2A_uc001fqe.2_Missense_Mutation_p.A216V|SH2D2A_uc010phs.1_Missense_Mutation_p.A234V	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN	SH2 domain protein 2A isoform 2	234	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity				0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTTCTCCCCGGCCCCCTCTTT	0.637													A	156779466	G	A	156779466	3	1	48	1	0	0	0	0	1	0	0	0	14232	1203	42	2	480	2	SH2D2A	1	156779466	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	440413	156779466	92471155	47	38064											
NTRK1	4914	broad.mit.edu	37	chr1	156843535	156843535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggctcttcaatggctccGtgctcaatgagaccagcttc	10	13	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:156843535G>A	uc001fqh.1	+	8	1017	c.961G>A	c.(961-963)GTG>ATG	p.V321M	NTRK1_uc001fqf.1_Missense_Mutation_p.V291M|NTRK1_uc009wsi.1_Missense_Mutation_p.V26M|NTRK1_uc001fqi.1_Missense_Mutation_p.V321M|NTRK1_uc009wsk.1_Missense_Mutation_p.V321M	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	321	Ig-like C2-type 2.|Extracellular (Potential).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CAATGGCTCCGTGCTCAATGA	0.627			T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)			A	156843535	G	A	156843535	3	1	48	1	0	0	0	0	1	0	0	0	10706	1145	40	1	1121	1	NTRK1	1	156843535	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	64069	156843535	92407086	48	38065											
SPTA1	6708	broad.mit.edu	37	chr1	158606546	158606546	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagctcactcgtatcaacTtctccctaaaatcaaggaag	8	11	4	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:158606546T>G	uc001fst.1	-	37	5394	c.5195A>C	c.(5194-5196)AAG>ACG	p.K1732T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1732	Spectrin 17.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCGTATCAACTTCTCCCTAAA	0.473													G	158606546	T	G	158606546	3	3	48	1	0	0	0	0	1	0	0	0	15115	1609	56	5	2128	5	SPTA1	1	158606546	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	1763011	158606546	90644075	49	38066											
FCER1A	2205	broad.mit.edu	37	chr1	159275825	159275825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggtgatggagggccagCccctcttcctcaggtgccat	14	12	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:159275825C>T	uc001ftq.2	+	5	478	c.379C>T	c.(379-381)CCC>TCC	p.P127S		NM_002001	NP_001992	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor	127	Ig-like 2.|Extracellular (Potential).					integral to plasma membrane				lung(2)|skin(2)|prostate(1)	5	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GGAGGGCCAGCCCCTCTTCCT	0.453													T	159275825	C	T	159275825	3	4	48	1	0	0	0	0	1	0	0	0	5774	739	26	2	393	2	FCER1A	1	159275825	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	669279	159275825	89974796	50	38067											
VANGL2	57216	broad.mit.edu	37	chr1	160393967	160393967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctttgcatccatggcccGtgccatgcagaagtaccttc	8	14	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:160393967G>A	uc001fwb.1	+	8	1498	c.1199G>A	c.(1198-1200)CGT>CAT	p.R400H	VANGL2_uc001fwc.1_Missense_Mutation_p.R400H	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	400	Cytoplasmic (Potential).				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCATGGCCCGTGCCATGCAG	0.572													A	160393967	G	A	160393967	3	1	48	1	0	0	0	0	1	0	0	0	17117	1145	40	1	1221	1	VANGL2	1	160393967	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1118142	160393967	88856654	51	38068											
ADAMTS4	9507	broad.mit.edu	37	chr1	161166627	161166627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcggccatcttgtcatctGccaccaccagtgtctccaca	7	16	4	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:161166627G>A	uc001fyt.3	-	2	1105	c.677C>T	c.(676-678)GCA>GTA	p.A226V	ADAMTS4_uc001fyu.2_Missense_Mutation_p.A226V|NDUFS2_uc001fyv.2_5'Flank	NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	226	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTTGTCATCTGCCACCACCAG	0.552													A	161166627	G	A	161166627	3	1	48	1	0	0	0	0	1	0	0	0	268	1319	46	2	1868	2	ADAMTS4	1	161166627	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	772660	161166627	88083994	52	38069											
LMX1A	4009	broad.mit.edu	37	chr1	165182925	165182925	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgaggccttgaatgctcGcctctgttgagttgtcaaga	11	8	2	4			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:165182925G>A	uc001gcy.1	-	4	843	c.622C>T	c.(622-624)CGA>TGA	p.R208*	LMX1A_uc001gcz.1_Nonsense_Mutation_p.R208*|LMX1A_uc001gcw.1_5'Flank|LMX1A_uc001gcx.1_5'Flank	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	208	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	all_hematologic(923;0.248)					TTGAATGCTCGCCTCTGTTGA	0.557													A	165182925	G	A	165182925	4	1	48	1	0	0	0	0	0	1	0	0	8861	1095	38	1	546	1	LMX1A	1	165182925	Nonsense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	4016298	165182925	84067696	53	38070											
TBX19	9095	broad.mit.edu	37	chr1	168262408	168262408	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaattctctgcataaataTgaaccccaggttcacatagt	6	9	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:168262408T>C	uc001gfl.2	+	3	546	c.495T>C	c.(493-495)TAT>TAC	p.Y165Y	TBX19_uc001gfj.3_Silent_p.Y96Y	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	165	T-box.				anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)					TGCATAAATATGAACCCCAGG	0.478													C	168262408	T	C	168262408	2	2	48	1	0	0	0	0	0	0	0	1	15651	1471	51	3		3	TBX19	1	168262408	Silent	SNP	T	TCGA-BR-7703-01A-11D-2053-08	3079483	168262408	80988213	54	38071											
SOAT1	6646	broad.mit.edu	37	chr1	179310351	179310351	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatggctttcttttcatgaTcttccagattggagttctag	8	9	4	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:179310351T>C	uc001gml.2	+	7	749	c.686T>C	c.(685-687)ATC>ACC	p.I229T	SOAT1_uc010pni.1_Missense_Mutation_p.I164T|SOAT1_uc001gmm.2_Missense_Mutation_p.I171T|SOAT1_uc010pnj.1_5'UTR|SOAT1_uc010pnk.1_Missense_Mutation_p.I164T	NM_003101	NP_003092	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	229					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|skin(1)	2					Ezetimibe(DB00973)|Hesperetin(DB01094)	CTTTTCATGATCTTCCAGATT	0.433													C	179310351	T	C	179310351	3	2	48	1	0	0	0	0	1	0	0	0	14910	1435	50	3	708	3	SOAT1	1	179310351	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	11047943	179310351	69940270	55	38072											
CEP350	9857	broad.mit.edu	37	chr1	180062648	180062648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgatgaaaagtaaggagCgcagtgatgtggagcatgaa	15	4	0	4			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:180062648C>T	uc001gnt.2	+	34	7791	c.7408C>T	c.(7408-7410)CGC>TGC	p.R2470C	CEP350_uc009wxl.2_Missense_Mutation_p.R2469C|CEP350_uc001gnv.2_Missense_Mutation_p.R605C|CEP350_uc001gnw.1_Missense_Mutation_p.R227C|CEP350_uc001gnx.1_Missense_Mutation_p.R227C	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	2470						centrosome|nucleus|spindle				ovary(4)	4						AAGTAAGGAGCGCAGTGATGT	0.453													T	180062648	C	T	180062648	3	4	48	1	0	0	0	0	1	0	0	0	3254	768	27	1	7538	1	CEP350	1	180062648	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	752297	180062648	69187973	56	38073											
GLUL	2752	broad.mit.edu	37	chr1	182354634	182354634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgatgcaagatgaaacgggCcacccagagatgatctccca	10	12	1	4			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:182354634C>T	uc001gpa.1	-	6	873	c.661G>A	c.(661-663)GCC>ACC	p.A221T	GLUL_uc010pnt.1_Missense_Mutation_p.A8T|GLUL_uc001gpb.1_Missense_Mutation_p.A221T|GLUL_uc001gpc.1_Missense_Mutation_p.A221T|GLUL_uc001gpd.1_Missense_Mutation_p.A221T	NM_001033056	NP_001028228	P15104	GLNA_HUMAN	glutamine synthetase	221					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding				0					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	ATGAAACGGGCCACCCAGAGA	0.478													T	182354634	C	T	182354634	3	4	48	1	0	0	0	0	1	0	0	0	6478	739	26	2	468	2	GLUL	1	182354634	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2291986	182354634	66895987	57	38074											
GLT25D2	23127	broad.mit.edu	37	chr1	183909828	183909828	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagagatgacgtagcccagGgtccagtaggaatagtcggc	15	8	0	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:183909828G>A	uc001gqr.2	-	11	1863	c.1491C>T	c.(1489-1491)ACC>ACT	p.T497T	GLT25D2_uc010poj.1_Silent_p.T497T|GLT25D2_uc001gqp.2_Silent_p.T105T|GLT25D2_uc001gqq.2_Silent_p.T234T|GLT25D2_uc001gqs.2_Silent_p.T377T	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	497					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						CGTAGCCCAGGGTCCAGTAGG	0.502													A	183909828	G	A	183909828	2	1	48	1	0	0	0	0	0	0	0	1	6467	1219	43	4		4	GLT25D2	1	183909828	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1555194	183909828	65340793	58	38075											
PLA2G4A	5321	broad.mit.edu	37	chr1	186957564	186957564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaagacagaatccatctcGttgctctgtttcccttagta	7	10	2	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:186957564G>A	uc001gsc.2	+	18	2379	c.2174G>A	c.(2173-2175)CGT>CAT	p.R725H	PLA2G4A_uc010pos.1_Missense_Mutation_p.R665H	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	725	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	AATCCATCTCGTTGCTCTGTT	0.383													A	186957564	G	A	186957564	3	1	48	1	0	0	0	0	1	0	0	0	12001	1145	40	1	2240	1	PLA2G4A	1	186957564	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	3047736	186957564	62293057	59	38076											
KIF21B	23046	broad.mit.edu	37	chr1	200974695	200974695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctgggagtggatgaggCgagaagtgacgccagtggtg	18	8	0	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:200974695C>T	uc001gvs.1	-	4	892	c.575G>A	c.(574-576)CGC>CAC	p.R192H	KIF21B_uc001gvr.1_Missense_Mutation_p.R192H|KIF21B_uc009wzl.1_Missense_Mutation_p.R192H|KIF21B_uc010ppn.1_Missense_Mutation_p.R192H|KIF21B_uc001gvt.1_5'UTR	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	192	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						GTGGATGAGGCGAGAAGTGAC	0.622													T	200974695	C	T	200974695	3	4	48	1	0	0	0	0	1	0	0	0	8289	768	27	1	4423	1	KIF21B	1	200974695	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	14017131	200974695	48275926	60	38077											
KDM5B	10765	broad.mit.edu	37	chr1	202710789	202710789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctccgcagcactaggcGtttcctcagagagtagtttc	11	12	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:202710789G>A	uc001gyf.2	-	19	2767	c.2651C>T	c.(2650-2652)ACG>ATG	p.T884M	KDM5B_uc009xag.2_Missense_Mutation_p.T920M|KDM5B_uc001gyg.1_Missense_Mutation_p.T726M	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	884					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						AGCACTAGGCGTTTCCTCAGA	0.418													A	202710789	G	A	202710789	3	1	48	1	0	0	0	0	1	0	0	0	8134	1145	40	1	2019	1	KDM5B	1	202710789	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1736094	202710789	46539832	61	38078											
PPFIA4	8497	broad.mit.edu	37	chr1	203024614	203024614	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgcggaggagattgagacGcgtgtaaccagtggcagcat	16	9	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:203024614G>A	uc001gyz.2	+	3	959	c.366G>A	c.(364-366)ACG>ACA	p.T122T	PPFIA4_uc009xaj.2_Silent_p.T753T|PPFIA4_uc010pqf.1_Silent_p.T335T|PPFIA4_uc001gza.2_Silent_p.T122T|PPFIA4_uc001gzb.1_5'Flank	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	122	Potential.				cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						AGATTGAGACGCGTGTAACCA	0.612													A	203024614	G	A	203024614	2	1	48	1	0	0	0	0	0	0	0	1	12312	1074	38	1		1	PPFIA4	1	203024614	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	313825	203024614	46226007	62	38079											
CDK18	5129	broad.mit.edu	37	chr1	205495220	205495220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccacagtcttcaaagggCgcagcaaactgacggagaac	11	11	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:205495220C>T	uc001hcr.2	+	6	793	c.574C>T	c.(574-576)CGC>TGC	p.R192C	CDK18_uc010pri.1_Missense_Mutation_p.A182V|CDK18_uc001hcp.2_Missense_Mutation_p.R162C|CDK18_uc001hcq.2_Missense_Mutation_p.R162C|CDK18_uc010prj.1_Missense_Mutation_p.R73C|CDK18_uc001hcs.2_Missense_Mutation_p.R73C|CDK18_uc009xbm.1_Missense_Mutation_p.R73C	NM_212503	NP_997668	Q07002	CDK18_HUMAN	PCTAIRE protein kinase 3 isoform a	160	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			stomach(2)	2						CTTCAAAGGGCGCAGCAAACT	0.577													T	205495220	C	T	205495220	3	4	48	1	0	0	0	0	1	0	0	0	3134	768	27	1	592	1	CDK18	1	205495220	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2470606	205495220	43755401	63	38080											
SLC41A1	254428	broad.mit.edu	37	chr1	205768111	205768111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggaggcaatgaaggctGtggccacgctgctagcacag	15	11	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:205768111G>A	uc001hdh.1	-	5	1543	c.671C>T	c.(670-672)ACA>ATA	p.T224I	uc001hdi.1_5'Flank	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 member 1	224	Helical; (Potential).					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			skin(2)	2	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AATGAAGGCTGTGGCCACGCT	0.597													A	205768111	G	A	205768111	3	1	48	1	0	0	0	0	1	0	0	0	14629	1377	48	4	898	4	SLC41A1	1	205768111	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	272891	205768111	43482510	64	38081											
USH2A	7399	broad.mit.edu	37	chr1	216052348	216052348	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgacttaacactgcggaAgtcacattggttaaagtgat	9	6	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:216052348A>C	uc001hku.1	-	42	8703	c.8316T>G	c.(8314-8316)ACT>ACG	p.T2772T		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2772	Fibronectin type-III 14.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACACTGCGGAAGTCACATTGG	0.443										HNSCC(13;0.011)			C	216052348	A	C	216052348	2	2	48	1	0	0	0	0	0	0	0	1	17033	59	3	5		5	USH2A	1	216052348	Silent	SNP	A	TCGA-BR-7703-01A-11D-2053-08	10284237	216052348	33198273	65	38082											
USH2A	7399	broad.mit.edu	37	chr1	216172363	216172363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacatatataatacatagcGttccagaatcccacttattt	4	9	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:216172363G>A	uc001hku.1	-	34	6910	c.6523C>T	c.(6523-6525)CGC>TGC	p.R2175C		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2175	Extracellular (Potential).|Fibronectin type-III 8.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATACATAGCGTTCCAGAATC	0.313										HNSCC(13;0.011)			A	216172363	G	A	216172363	3	1	48	1	0	0	0	0	1	0	0	0	17033	1145	40	1	9241	1	USH2A	1	216172363	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	120015	216172363	33078258	66	38083											
TGFB2	7042	broad.mit.edu	37	chr1	218520238	218520238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccgaggaagtccccccGgaggtgatttccatctacaa	11	13	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:218520238G>A	uc001hlm.2	+	1	848	c.195G>A	c.(193-195)CCG>CCA	p.P65P	TGFB2_uc001hll.2_Silent_p.P65P|TGFB2_uc001hln.2_Silent_p.P65P|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	NM_003238	NP_003229	P61812	TGFB2_HUMAN	transforming growth factor, beta 2 isoform 2	65					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding				0				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AAGTCCCCCCGGAGGTGATTT	0.627													A	218520238	G	A	218520238	2	1	48	1	0	0	0	0	0	0	0	1	15815	1103	39	1		1	TGFB2	1	218520238	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2347875	218520238	30730383	67	38084											
SIPA1L2	57568	broad.mit.edu	37	chr1	232568138	232568138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtccgctgctgtgagacaCgatgtagactttggatgaat	12	7	0	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:232568138C>T	uc001hvg.2	-	14	4269	c.4111G>A	c.(4111-4113)GTG>ATG	p.V1371M	SIPA1L2_uc001hvf.2_Missense_Mutation_p.V445M	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1371	Ser-rich.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTGTGAGACACGATGTAGACT	0.493													T	232568138	C	T	232568138	3	4	48	1	0	0	0	0	1	0	0	0	14330	536	19	1	1089	1	SIPA1L2	1	232568138	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	14047900	232568138	16682483	68	38085											
PCNXL2	80003	broad.mit.edu	37	chr1	233190017	233190017	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgaagaaattcttacctcGgaattccagtcctcgaagtt	7	9	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:233190017G>A	uc001hvl.2	-	25	4583	c.4348C>T	c.(4348-4350)CGA>TGA	p.R1450*	PCNXL2_uc001hvk.1_Nonsense_Mutation_p.R102*|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1450						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				TTCTTACCTCGGAATTCCAGT	0.368													A	233190017	G	A	233190017	4	1	48	1	0	0	0	0	0	1	0	0	11592	1124	39	1	2105	1	PCNXL2	1	233190017	Nonsense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	621879	233190017	16060604	69	38086											
KCNK1	3775	broad.mit.edu	37	chr1	233802519	233802519	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggcttctccaagcaggtGgtggccatcgtccatgccgt	14	12	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:233802519G>A	uc010pxo.1	+	2	702	c.534G>A	c.(532-534)GTG>GTA	p.V178V	KCNK1_uc001hvw.2_RNA|KCNK1_uc001hvx.2_RNA	NM_002245	NP_002236	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	178	Helical; (Potential).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			central_nervous_system(1)	1		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CCAAGCAGGTGGTGGCCATCG	0.612													A	233802519	G	A	233802519	2	1	48	1	0	0	0	0	0	0	0	1	8058	1335	47	4		4	KCNK1	1	233802519	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	612502	233802519	15448102	70	38087											
ACTN2	88	broad.mit.edu	37	chr1	236924372	236924372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccaacgggcaaggcaccGtcaccttccaatccttcatc	6	17	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:236924372G>A	uc001hyf.2	+	20	2629	c.2425G>A	c.(2425-2427)GTC>ATC	p.V809I	ACTN2_uc001hyg.2_Missense_Mutation_p.V601I|ACTN2_uc009xgi.1_Missense_Mutation_p.V809I|ACTN2_uc010pxu.1_Missense_Mutation_p.V498I|ACTN2_uc001hyh.2_Missense_Mutation_p.V497I	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	809	2; possibly ancestral.|EF-hand 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCAAGGCACCGTCACCTTCCA	0.542													A	236924372	G	A	236924372	3	1	48	1	0	0	0	0	1	0	0	0	205	1145	40	1	2503	1	ACTN2	1	236924372	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	3121853	236924372	12326249	71	38088											
MTR	4548	broad.mit.edu	37	chr1	237015832	237015832	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgccaggaaacattaccTggagccagaataagtggagg	12	7	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:237015832T>C	uc001hyi.3	+	17	2130	c.1707T>C	c.(1705-1707)CCT>CCC	p.P569P	MTR_uc010pxw.1_Silent_p.P162P|MTR_uc010pxx.1_Silent_p.P569P|MTR_uc010pxy.1_Intron	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	569	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AAACATTACCTGGAGCCAGAA	0.398													C	237015832	T	C	237015832	2	2	48	1	0	0	0	0	0	0	0	1	9958	1567	55	3		3	MTR	1	237015832	Silent	SNP	T	TCGA-BR-7703-01A-11D-2053-08	91460	237015832	12234789	72	38089											
EXO1	9156	broad.mit.edu	37	chr1	242042466	242042466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgattcccccacctctttgCctgagaataatatgtctgat	7	12	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:242042466C>T	uc001hzh.2	+	13	2470	c.1930C>T	c.(1930-1932)CCT>TCT	p.P644S	EXO1_uc001hzi.2_Missense_Mutation_p.P644S|EXO1_uc001hzj.2_Missense_Mutation_p.P644S|EXO1_uc009xgq.2_Missense_Mutation_p.P643S	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	644	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CACCTCTTTGCCTGAGAATAA	0.502								Direct_reversal_of_damage|Editing_and_processing_nucleases					T	242042466	C	T	242042466	3	4	48	1	0	0	0	0	1	0	0	0	5300	739	26	2	1968	2	EXO1	1	242042466	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	5026634	242042466	7208155	73	38090											
PLD5	200150	broad.mit.edu	37	chr1	242253167	242253167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcatgttatacgttccGgggatcctttccgcctgtgt	9	11	2	0	rs140318994		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:242253167G>A	uc001hzn.1	-	10	1727	c.1600C>T	c.(1600-1602)CGG>TGG	p.R534W	PLD5_uc001hzl.3_Missense_Mutation_p.R472W|PLD5_uc001hzm.3_Missense_Mutation_p.R324W|PLD5_uc001hzo.1_Missense_Mutation_p.R442W			Q8N7P1	PLD5_HUMAN	RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;	534						integral to membrane	catalytic activity			ovary(6)	6	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TATACGTTCCGGGGATCCTTT	0.428													A	242253167	G	A	242253167	3	1	48	1	0	0	0	0	1	0	0	0	12049	1115	39	1	14	1	PLD5	1	242253167	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	210701	242253167	6997454	74	38091											
CEP170	9859	broad.mit.edu	37	chr1	243349684	243349684	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgcctgtgagccccagcGttctctgaatcactttgcgt	10	14	2	2	rs139999949	by1000genomes	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:243349684G>A	uc001hzs.2	-	9	1557	c.1149C>T	c.(1147-1149)AAC>AAT	p.N383N	CEP170_uc001hzt.2_Silent_p.N383N|CEP170_uc001hzu.2_Silent_p.N383N	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	383						centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GAGCCCCAGCGTTCTCTGAAT	0.428													A	243349684	G	A	243349684	2	1	48	1	0	0	0	0	0	0	0	1	3250	1136	40	1		1	CEP170	1	243349684	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1096517	243349684	5900937	75	38092											
OR2T11	127077	broad.mit.edu	37	chr1	248789600	248789600	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattaagcatgggcgtgacaAtggtatagaaggctgacact	13	6	0	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:248789600A>G	uc001ier.1	-	1	830	c.830T>C	c.(829-831)ATT>ACT	p.I277T		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T,	277	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGCGTGACAATGGTATAGAA	0.483													G	248789600	A	G	248789600	3	3	48	1	0	0	0	0	1	0	0	0	11018	101	4	3	124	3	OR2T11	1	248789600	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	5439916	248789600	461021	76	38093											
PXDN	7837	broad.mit.edu	37	chr2	1647176	1647176	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacacccggaggtctacccTggggatctcgtcacagctgc	11	16	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:1647176T>C	uc002qxa.2	-	19	3980	c.3916A>G	c.(3916-3918)AGG>GGG	p.R1306G		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1306					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGGTCTACCCTGGGGATCTCG	0.612													C	1647176	T	C	1647176	3	2	48	1	0	0	0	0	1	0	0	0	12847	1579	55	3	543	3	PXDN	2	1647176	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08		1647176	241552197	77	38094											
MYT1L	23040	broad.mit.edu	37	chr2	1983518	1983518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacccctttggaccgcgtgCgatgccgcttctcctcggtg	12	15	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:1983518C>T	uc002qxe.2	-	6	859	c.32G>A	c.(31-33)CGC>CAC	p.R11H	MYT1L_uc002qxd.2_Missense_Mutation_p.R11H|MYT1L_uc002qxf.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	11					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGACCGCGTGCGATGCCGCTT	0.617													T	1983518	C	T	1983518	3	4	48	1	0	0	0	0	1	0	0	0	10107	768	27	1	3602	1	MYT1L	2	1983518	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	336342	1983518	241215855	78	38095											
RRM2	6241	broad.mit.edu	37	chr2	10267250	10267251	+	Frame_Shift_Del	DEL	TT	TT	-													ctttgctgcagtggaaggcaTtttcttttccggttcttttg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:10267249_10267250ATT>A	uc021vdr.1	+	6	931_932	c.880_881ATT>A	c.(880-882)attfs	p.I294fs		NM_001034	NP_001159403	P31350	RIR2_HUMAN	Homo sapiens ribonucleotide reductase M2 (RRM2), transcript variant 2, mRNA.	234					DNA replication|deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		AGTGGAAGGCATTTTCTTTTCC	0.426													-	10267251	TT	-	10267250	7	5	48	1	0	1	0	1	0	0	0	0	13682	1493	52	0	907	0	RRM2	2	10267250	Frame_Shift_Del	DEL	TT	TCGA-BR-7703-01A-11D-2053-08	8283732	10267250	232932123	79	38096											
RAD51AP2	729475	broad.mit.edu	37	chr2	17698848	17698848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtcattctttttcttcgCtatttcctttaaatagacag	4	8	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:17698848C>T	uc002rcl.1	-	1	859	c.835G>A	c.(835-837)GCG>ACG	p.A279T	RAD51AP2_uc010exn.1_Missense_Mutation_p.A270T	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	279										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTTTCTTCGCTATTTCCTTT	0.358													T	17698848	C	T	17698848	3	4	48	1	0	0	0	0	1	0	0	0	12987	797	28	2	2656	2	RAD51AP2	2	17698848	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	7431598	17698848	225500525	80	38097											
SMC6	79677	broad.mit.edu	37	chr2	17913083	17913084	+	Frame_Shift_Del	DEL	AC	AC	-													tataagtatagagttaccatAcacactggctttaaaggcat							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:17913083_17913084delAC	uc002rco.2	-	6	701_702	c.405_406delGT	c.(403-408)GTGTATfs	p.V135fs	SMC6_uc010exo.2_Frame_Shift_Del_p.V135fs|SMC6_uc002rcn.2_Frame_Shift_Del_p.V135fs|SMC6_uc002rcp.1_Frame_Shift_Del_p.V161fs|SMC6_uc002rcq.2_Frame_Shift_Del_p.V161fs|SMC6_uc002rcr.1_Frame_Shift_Del_p.V135fs	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	135_136					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAGTTACCATACACACTGGCTT	0.361													-	17913084	AC	-	17913083	7	5	48	1	0	1	0	1	0	0	0	0	14787	391	14	0	2961	0	SMC6	2	17913083	Frame_Shift_Del	DEL	AC	TCGA-BR-7703-01A-11D-2053-08	214235	17913083	225286290	81	38098											
KCNS3	3790	broad.mit.edu	37	chr2	18112530	18112530	+	Frame_Shift_Del	DEL	G	G	-													gttttgaatttttattacacGgggaagctgcatgtcatgga							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:18112529_18112529CG>C	uc021veh.1	+	0	254	c.254_254CG>C	c.(253-255)acgfs	p.T85fs	KCNS3_uc002rcv.3_Frame_Shift_Del_p.T85fs|KCNS3_uc002rcw.3_Frame_Shift_Del_p.T85fs	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	85					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTTATTACACGGGGAAGCTG	0.468													-	18112530	G	-	18112530	7	5	48	1	0	1	0	1	0	0	0	0	8090	1103	39	0	257	0	KCNS3	2	18112530	Frame_Shift_Del	DEL	G	TCGA-BR-7703-01A-11D-2053-08	199447	18112530	225086843	82	38099											
MFSD2B	388931	broad.mit.edu	37	chr2	24240221	24240221	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccaagggagcgggactcGgccaccgcctaccgtgagtg	15	14	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:24240221G>A	uc002reo.1	+	5	551	c.537G>A	c.(535-537)TCG>TCA	p.S179S	MFSD2B_uc010exz.1_Intron	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing	179					transport	integral to membrane				ovary(2)	2						AGCGGGACTCGGCCACCGCCT	0.652													A	24240221	G	A	24240221	2	1	48	1	0	0	0	0	0	0	0	1	9531	1103	39	1		1	MFSD2B	2	24240221	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	6127691	24240221	218959152	83	38100											
MFSD2B	388931	broad.mit.edu	37	chr2	24247037	24247037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctcaaagtcctcattggCgccgtgcccacctgcatgat	8	16	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:24247037C>T	uc002reo.1	+	13	1400	c.1386C>T	c.(1384-1386)GGC>GGT	p.G462G		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing	462	Helical; (Potential).				transport	integral to membrane				ovary(2)	2						TCCTCATTGGCGCCGTGCCCA	0.607													T	24247037	C	T	24247037	2	4	48	1	0	0	0	0	0	0	0	1	9531	755	27	1		1	MFSD2B	2	24247037	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	6816	24247037	218952336	84	38101											
SLC5A6	8884	broad.mit.edu	37	chr2	27423328	27423328	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaggtctcctggaggatGcaggtggagctgctcccctg	17	10	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:27423328G>A	uc002rjd.2	-	17	2275	c.1884C>T	c.(1882-1884)TGC>TGT	p.C628C	SLC5A6_uc010eyv.1_Silent_p.C628C	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	628					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CCTGGAGGATGCAGGTGGAGC	0.607													A	27423328	G	A	27423328	2	1	48	1	0	0	0	0	0	0	0	1	14669	1311	46	2		2	SLC5A6	2	27423328	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	3176291	27423328	215776045	85	38102											
ALK	238	broad.mit.edu	37	chr2	29462672	29462672	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttcttcccgcctttcccGccagcagctccgtagcccga	9	18	1	0	rs111253753	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:29462672G>A	uc002rmy.2	-	13	3136	c.2229C>T	c.(2227-2229)GGC>GGT	p.G743G		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	743	Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CGCCTTTCCCGCCAGCAGCTC	0.592			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				A	29462672	G	A	29462672	2	1	48	1	0	0	0	0	0	0	0	1	525	1074	38	1		1	ALK	2	29462672	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2039344	29462672	213736701	86	38103											
MAP4K3	8491	broad.mit.edu	37	chr2	39552897	39552898	+	Frame_Shift_Ins	INS	-	-	T													aatttttcagcagtaggtctINSttttttcggatttttggtaa							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:39552896_39552897C>CT	uc002rro.3	-	10	872_873	c.781_782G>AG	c.(781-783)agafs	p.R261fs	MAP4K3_uc002rrp.3_Frame_Shift_Ins_p.R261fs|MAP4K3_uc010yns.2_5'UTR	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	261	Protein kinase.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				AGCAGTAGGTCTTTTTTTCGGA	0.248													T	39552898	-	T	39552897	7	5	48	1	0	1	1	0	0	0	0	0	9261	1617	56	0	1999	0	MAP4K3	2	39552897	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	10090225	39552897	203646476	87	38104											
TTC7A	57217	broad.mit.edu	37	chr2	47256440	47256440	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgccctccacctgctggcActgctcttctctgcccagaa	7	19	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:47256440A>G	uc002rvo.2	+	15	2087	c.1719A>G	c.(1717-1719)GCA>GCG	p.A573A	TTC7A_uc002rvm.2_Silent_p.A539A|TTC7A_uc002rvn.1_Silent_p.A454A|TTC7A_uc010fbb.2_Silent_p.A573A|TTC7A_uc010fbc.2_Silent_p.A219A|TTC7A_uc002rvp.2_Silent_p.A454A|TTC7A_uc002rvq.2_Silent_p.A313A|TTC7A_uc002rvr.2_Silent_p.A22A	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	573	TPR 6.						binding			breast(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			ACCTGCTGGCACTGCTCTTCT	0.592													G	47256440	A	G	47256440	2	3	48	1	0	0	0	0	0	0	0	1	16709	146	6	3		3	TTC7A	2	47256440	Silent	SNP	A	TCGA-BR-7703-01A-11D-2053-08	7703543	47256440	195942933	88	38105											
SPTBN1	6711	broad.mit.edu	37	chr2	54858256	54858256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcggagaagctggagtcCgagcaccccgaccaggccca	15	14	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:54858256C>T	uc002rxu.2	+	16	3321	c.3072C>T	c.(3070-3072)TCC>TCT	p.S1024S	SPTBN1_uc002rxx.2_Silent_p.S1011S	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1024	Spectrin 7.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			AGCTGGAGTCCGAGCACCCCG	0.637													T	54858256	C	T	54858256	2	4	48	1	0	0	0	0	0	0	0	1	15118	639	23	1		1	SPTBN1	2	54858256	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	7601816	54858256	188341117	89	38106											
MTIF2	4528	broad.mit.edu	37	chr2	55464461	55464461	+	Frame_Shift_Del	DEL	T	T	-													ccattacgggttagtttaaaTtttttttgtttttctaactg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:55464460_55464460AT>A	uc002ryn.3	-	15	2712	c.1975_1975AT>T	c.(1975-1977)tttfs	p.F659fs	MTIF2_uc010yox.2_Frame_Shift_Del_p.F328fs|MTIF2_uc002ryo.3_Frame_Shift_Del_p.F659fs	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	659					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						GTTAGTTTAAATTTTTTTTGT	0.383													-	55464461	T	-	55464461	7	5	48	1	0	1	0	1	0	0	0	0	9934	1490	52	0	217	0	MTIF2	2	55464461	Frame_Shift_Del	DEL	T	TCGA-BR-7703-01A-11D-2053-08	606205	55464461	187734912	90	38107											
USP34	9736	broad.mit.edu	37	chr2	61575984	61575984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccactttgatgtgtatcGctattatcactgctttgagg	8	10	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:61575984G>A	uc002sbe.2	-	14	1603	c.1581C>T	c.(1579-1581)AGC>AGT	p.S527S		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	527					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			GATGTGTATCGCTATTATCAC	0.338													A	61575984	G	A	61575984	2	1	48	1	0	0	0	0	0	0	0	1	17062	1078	38	1		1	USP34	2	61575984	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	6111523	61575984	181623389	91	38108											
USP34	9736	broad.mit.edu	37	chr2	61577527	61577527	+	Splice_Site	DEL	A	A	-													ggatgccaagtacagtgtctAaaaaaaagagggagagattt							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:61577526_61577526TA>T	uc002sbe.3	-	12	1400	c.1378_splice	c.e12-1	p.T460_splice		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	460					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTACAGTGTCTAAAAAAAAGA	0.338													-	61577527	A	-	61577527	8	5	48	1	0	1	0	1	0	0	1	0	17062	377	13	0		0	USP34	2	61577527	Splice_Site	DEL	A	TCGA-BR-7703-01A-11D-2053-08	1543	61577527	181621846	92	38109											
ADD2	119	broad.mit.edu	37	chr2	70905913	70905913	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaggtaggtgttgggcgTattgagccagcgggtcttct	16	9	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:70905913T>C	uc002sgz.2	-	11	1771	c.1306A>G	c.(1306-1308)ACG>GCG	p.T436A	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.T436A|ADD2_uc002sha.2_Intron|ADD2_uc002sgx.2_Missense_Mutation_p.T436A|ADD2_uc010fdt.1_Missense_Mutation_p.T436A|ADD2_uc002shc.1_Missense_Mutation_p.T436A|ADD2_uc002shd.1_Intron|ADD2_uc010fdu.1_Missense_Mutation_p.T452A	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	436	Interaction with calmodulin (Potential).				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						GTGTTGGGCGTATTGAGCCAG	0.647													C	70905913	T	C	70905913	3	2	48	1	0	0	0	0	1	0	0	0	305	1638	57	3	1075	3	ADD2	2	70905913	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	9328386	70905913	172293460	93	38110											
C2orf7	84279	broad.mit.edu	37	chr2	73456645	73456645	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccgttgctgagttccccGcaggcctctggaggttcagc	12	13	2	1	rs139180180	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:73456645G>A	uc002siy.2	-	3	290	c.222C>T	c.(220-222)TGC>TGT	p.C74C		NM_032319	NP_115695	Q9BSG0	PADC1_HUMAN	chromosome 2 open reading frame 7 precursor	74						extracellular region					0						TGAGTTCCCCGCAGGCCTCTG	0.537													A	73456645	G	A	73456645	2	1	48	1	0	0	0	0	0	0	0	1	2189	1079	38	1		1	C2orf7	2	73456645	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2550732	73456645	169742728	94	38111											
FBXO41	150726	broad.mit.edu	37	chr2	73492583	73492583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagttctggatggcctggCgccgcaggcctgagctgcga	16	13	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:73492583C>T	uc002sjb.1	-	5	1574	c.1574G>A	c.(1573-1575)CGC>CAC	p.R525H		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	464						intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						GATGGCCTGGCGCCGCAGGCC	0.701													T	73492583	C	T	73492583	3	4	48	1	0	0	0	0	1	0	0	0	5750	768	27	1	1272	1	FBXO41	2	73492583	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	35938	73492583	169706790	95	38112											
ALMS1	7840	broad.mit.edu	37	chr2	73679208	73679208	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgccctctaattcctacCcacagagagagcactctgtc	6	16	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:73679208C>A	uc002sje.1	+	10	5668	c.5557C>A	c.(5557-5559)CCA>ACA	p.P1853T	ALMS1_uc002sjf.1_Missense_Mutation_p.P1809T|ALMS1_uc002sjg.2_Missense_Mutation_p.P1239T|ALMS1_uc002sjh.1_Missense_Mutation_p.P1239T	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1851	28.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						TAATTCCTACCCACAGAGAGA	0.453													A	73679208	C	A	73679208	3	1	48	1	0	0	0	0	1	0	0	0	535	623	22	5	5581	5	ALMS1	2	73679208	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	186625	73679208	169520165	96	38113											
DCTN1	1639	broad.mit.edu	37	chr2	74597749	74597749	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctgtgggccccttaccCttctcttcaatctcagcctt	7	16	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:74597749C>T	uc002skx.2	-	10	1358	c.1047G>A	c.(1045-1047)AAG>AAA	p.K349K	DCTN1_uc002skv.2_Silent_p.K215K|DCTN1_uc002sku.2_Silent_p.K215K|DCTN1_uc002skw.1_Silent_p.K325K|DCTN1_uc010ffd.2_Silent_p.K329K|DCTN1_uc002sky.2_Silent_p.K312K	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	349	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						GCCCCTTACCCTTCTCTTCAA	0.572													T	74597749	C	T	74597749	2	4	48	1	0	0	0	0	0	0	0	1	4306	695	24	4		4	DCTN1	2	74597749	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	918541	74597749	168601624	97	38114											
LRRTM4	80059	broad.mit.edu	37	chr2	77746782	77746782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatttgagcttctgaatgctGttgaaccttaatgataagcc	9	7	1	4			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:77746782G>A	uc002snr.2	-	3	628	c.213C>T	c.(211-213)AAC>AAT	p.N71N	LRRTM4_uc002snq.2_Silent_p.N71N|LRRTM4_uc002sns.2_Silent_p.N71N|LRRTM4_uc002snt.2_Silent_p.N72N	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	71	LRR 1.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		TCTGAATGCTGTTGAACCTTA	0.418													A	77746782	G	A	77746782	2	1	48	1	0	0	0	0	0	0	0	1	9042	1368	48	4		4	LRRTM4	2	77746782	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	3149033	77746782	165452591	98	38115											
ZAP70	7535	broad.mit.edu	37	chr2	98354293	98354293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccgcaagttctccagccGcagcgatgtctggagctatg	11	13	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:98354293G>A	uc002syd.1	+	12	1763	c.1556G>A	c.(1555-1557)CGC>CAC	p.R519H	ZAP70_uc002sye.1_Missense_Mutation_p.R409H|ZAP70_uc002syf.1_Missense_Mutation_p.R212H	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	519	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						TTCTCCAGCCGCAGCGATGTC	0.647													A	98354293	G	A	98354293	3	1	48	1	0	0	0	0	1	0	0	0	17511	1087	38	1	1594	1	ZAP70	2	98354293	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	20607511	98354293	144845080	99	38116											
SLC9A4	389015	broad.mit.edu	37	chr2	103149045	103149045	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtctggaggggagagtgaGggcaaggcctctttggttga	19	5	2	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:103149045G>T	uc002tbz.3	+	12	2752	c.2295G>T	c.(2293-2295)GAG>GAT	p.E765D		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	765	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						GGGAGAGTGAGGGCAAGGCCT	0.542													T	103149045	G	T	103149045	3	4	48	1	0	0	0	0	1	0	0	0	14716	991	35	5	2341	5	SLC9A4	2	103149045	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	4794752	103149045	140050328	100	38117											
ZC3H6	376940	broad.mit.edu	37	chr2	113082135	113082135	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaaagtcctggtgaaatgCagctcaacaccaattatgag	9	9	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:113082135C>A	uc002thq.1	+	10	2141	c.1747C>A	c.(1747-1749)CAG>AAG	p.Q583K		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	583							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4						TGGTGAAATGCAGCTCAACAC	0.443													A	113082135	C	A	113082135	3	1	48	1	0	0	0	0	1	0	0	0	17568	711	25	5	1785	5	ZC3H6	2	113082135	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	9933090	113082135	130117238	101	38118											
DPP10	57628	broad.mit.edu	37	chr2	116497367	116497367	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtcaccagatggagaaagActtgccttcctgatgataaa	10	8	1	5			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:116497367A>G	uc002tla.1	+	9	1207	c.750A>G	c.(748-750)AGA>AGG	p.R250R	DPP10_uc002tlb.1_Silent_p.R200R|DPP10_uc002tlc.1_Silent_p.R246R|DPP10_uc002tle.2_Silent_p.R254R|DPP10_uc002tlf.1_Silent_p.R243R	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	250	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						ATGGAGAAAGACTTGCCTTCC	0.463													G	116497367	A	G	116497367	2	3	48	1	0	0	0	0	0	0	0	1	4727	272	10	3		3	DPP10	2	116497367	Silent	SNP	A	TCGA-BR-7703-01A-11D-2053-08	3415232	116497367	126702006	102	38119											
MAP3K2	10746	broad.mit.edu	37	chr2	128083333	128083333	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggactatcaagtgatggacaActtcctgagccagaattttc	9	9	1	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:128083333A>G	uc002toj.1	-	8	713	c.648T>C	c.(646-648)AGT>AGC	p.S216S	MAP3K2_uc010flz.1_Silent_p.S216S	NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase	216					activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		GTGATGGACAACTTCCTGAGC	0.303													G	128083333	A	G	128083333	2	3	48	1	0	0	0	0	0	0	0	1	9250	40	2	3		3	MAP3K2	2	128083333	Silent	SNP	A	TCGA-BR-7703-01A-11D-2053-08	11585966	128083333	115116040	103	38120											
AMMECR1L	83607	broad.mit.edu	37	chr2	128628889	128628889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggtcccaatgcagccaCgaagccgcttgtcccgccct	10	16	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:128628889C>T	uc002tpl.2	-	4	703	c.452G>A	c.(451-453)CGT>CAT	p.R151H	AMMECR1L_uc002tpm.2_Missense_Mutation_p.R151H	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	AMME chromosomal region gene 1-like	151	AMMECR1.									central_nervous_system(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		AATGCAGCCACGAAGCCGCTT	0.443													T	128628889	C	T	128628889	3	4	48	1	0	0	0	0	1	0	0	0	579	536	19	1	500	1	AMMECR1L	2	128628889	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	545556	128628889	114570484	104	38121											
SAP130	79595	broad.mit.edu	37	chr2	128767857	128767859	+	In_Frame_Del	DEL	AGT	AGT	-													gtatacctaagtgctgaatcAgtagcatgcgccgctgtcgt							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:128767857_128767859delAGT	uc002tpp.2	-	7	1063_1065	c.931_933delACT	c.(931-933)ACTdel	p.T311del	SAP130_uc002tpn.2_In_Frame_Del_p.T72del|SAP130_uc002tpo.2_In_Frame_Del_p.T56del|SAP130_uc010fmd.2_In_Frame_Del_p.T311del|SAP130_uc002tpq.1_In_Frame_Del_p.T285del	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	311					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GTGCTGAATCAGTAGCATGCGCC	0.463													-	128767859	AGT	-	128767857	7	5	48	1	0	1	0	1	0	0	0	0	13831	175	7	0	2378	0	SAP130	2	128767857	In_Frame_Del	DEL	AGT	TCGA-BR-7703-01A-11D-2053-08	138968	128767857	114431516	105	38122											
LRP1B	53353	broad.mit.edu	37	chr2	141032034	141032034	+	Frame_Shift_Del	DEL	C	C	-													tctttatttataatgcagtgCcccccatggcaccttacaca							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:141032033_141032033GC>G	uc002tvj.1	-	84	14074	c.13102_13102GC>C	c.(13102-13104)cacfs	p.H4368fs		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4368					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G4367R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATAATGCAGTGCCCCCCATGG	0.418										TSP Lung(27;0.18)			-	141032034	C	-	141032034	7	5	48	1	0	1	0	1	0	0	0	0	8955	726	26	0	726	0	LRP1B	2	141032034	Frame_Shift_Del	DEL	C	TCGA-BR-7703-01A-11D-2053-08	12264177	141032034	102167339	106	38123											
ACVR2A	92	broad.mit.edu	37	chr2	148680608	148680608	+	Frame_Shift_Del	DEL	T	T	-													taaacttccaaagggatgcaTttttgaggatagatatgtat							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:148680608delT	uc002twg.2	+	10	1413	c.1144delT	c.(1144-1146)TTTfs	p.F382fs	ACVR2A_uc010zbn.1_Frame_Shift_Del_p.F274fs|ACVR2A_uc002twh.2_Frame_Shift_Del_p.F382fs	NM_001616	NP_001607	P27037	AVR2A_HUMAN	activin A receptor, type IIA precursor	382	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AAGGGATGCATTTTTGAGGAT	0.398													-	148680608	T	-	148680608	7	5	48	1	0	1	0	1	0	0	0	0	223	1493	52	0	1178	0	ACVR2A	2	148680608	Frame_Shift_Del	DEL	T	TCGA-BR-7703-01A-11D-2053-08	7648574	148680608	94518765	107	38124											
XIRP2	129446	broad.mit.edu	37	chr2	168101960	168101961	+	Frame_Shift_Ins	INS	-	-	T													gtgcgaggaacaaggtggctINSttttgaaacaaagccattag							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:168101959_168101960C>CT	uc002udx.3	+	8	4146_4147	c.4057_4058C>CT	c.(4057-4059)cttfs	p.L1353fs	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Frame_Shift_Ins_p.L1178fs|XIRP2_uc010fpq.3_Frame_Shift_Ins_p.L1131fs|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1178					actin cytoskeleton organization	cell junction	actin binding	p.W1352*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACAAGGTGGCTTTTTGAAACA	0.381													T	168101961	-	T	168101960	7	5	48	1	0	1	1	0	0	0	0	0	17427	1609	56	0	4088	0	XIRP2	2	168101960	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	19421352	168101960	75097413	108	38125											
ATF2	1386	broad.mit.edu	37	chr2	175986257	175986257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacagccaaatgatcctcGttggtaaaacgctgtggcaa	11	9	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:175986257G>A	uc002ujl.2	-	5	376	c.114C>T	c.(112-114)AAC>AAT	p.N38N	ATF2_uc010fqv.2_Nonsense_Mutation_p.R13*|ATF2_uc002ujv.2_Translation_Start_Site|ATF2_uc002ujm.2_Intron|ATF2_uc002ujn.2_Intron|ATF2_uc002ujo.2_Intron|ATF2_uc002ujp.2_RNA|ATF2_uc002ujq.2_Silent_p.N38N|ATF2_uc002ujr.2_RNA|ATF2_uc010fqu.2_Silent_p.N20N|ATF2_uc002ujs.2_Intron|ATF2_uc002ujt.2_RNA|ATF2_uc002uju.2_Intron|ATF2_uc002ujw.1_Intron|ATF2_uc002ujx.1_RNA|ATF2_uc002ujy.1_Silent_p.N38N	NM_001880	NP_001871	P15336	ATF2_HUMAN	activating transcription factor 2	38	C2H2-type.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(1)|breast(1)|pancreas(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.125)			AATGATCCTCGTTGGTAAAAC	0.323													A	175986257	G	A	175986257	2	1	48	1	0	0	0	0	0	0	0	1	1080	1136	40	1		1	ATF2	2	175986257	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	7884297	175986257	67213116	109	38126											
HOXD13	3239	broad.mit.edu	37	chr2	176958155	176958155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcgagcagcagcgtaccGgccaacgaggtgccagcgcg	16	14	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:176958155G>A	uc002ukf.1	+	1	624	c.537G>A	c.(535-537)CCG>CCA	p.P179P		NM_000523	NP_000514	P35453	HXD13_HUMAN	homeobox D13	179					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		GCAGCGTACCGGCCAACGAGG	0.607			T	NUP98	AML*								A	176958155	G	A	176958155	2	1	48	1	0	0	0	0	0	0	0	1	7322	1103	39	1		1	HOXD13	2	176958155	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	971898	176958155	66241218	110	38127											
TTN	7273	broad.mit.edu	37	chr2	179416766	179416766	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcagcatctttgactagattAggaactttgaaagtcgttct	8	7	3	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:179416766A>T	uc010zfg.1	-	284	83381	c.83157T>A	c.(83155-83157)CCT>CCA	p.P27719P	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.P21414P|TTN_uc010zfi.1_Silent_p.P21347P|TTN_uc010zfj.1_Silent_p.P21222P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28646							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACTAGATTAGGAACTTTGA	0.428													T	179416766	A	T	179416766	2	4	48	1	0	0	0	0	0	0	0	1	16732	407	15	5		5	TTN	2	179416766	Silent	SNP	A	TCGA-BR-7703-01A-11D-2053-08	2458611	179416766	63782607	111	38128											
TTN	7273	broad.mit.edu	37	chr2	179439492	179439492	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaatccagtagtaaggcgGgtggctttataggtagtacg	13	6	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:179439492G>A	uc010zfg.1	-	275	63887	c.63663C>T	c.(63661-63663)ACC>ACT	p.T21221T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T14916T|TTN_uc010zfi.1_Silent_p.T14849T|TTN_uc010zfj.1_Silent_p.T14724T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22148							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGTAAGGCGGGTGGCTTTAT	0.448													A	179439492	G	A	179439492	2	1	48	1	0	0	0	0	0	0	0	1	16732	1219	43	4		4	TTN	2	179439492	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	22726	179439492	63759881	112	38129											
TTN	7273	broad.mit.edu	37	chr2	179481660	179481660	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccttggatagcctgtacTtggaaccaggatcgtgatag	13	8	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:179481660T>G	uc010zfg.1	-	205	40476	c.40252A>C	c.(40252-40254)AGT>CGT	p.S13418R	TTN_uc010zfh.1_Missense_Mutation_p.S7113R|TTN_uc010zfi.1_Missense_Mutation_p.S7046R|TTN_uc010zfj.1_Missense_Mutation_p.S6921R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14345							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGCCTGTACTTGGAACCAGG	0.423													G	179481660	T	G	179481660	3	3	48	1	0	0	0	0	1	0	0	0	16732	1609	56	5	60165	5	TTN	2	179481660	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	42168	179481660	63717713	113	38130											
COL5A2	1290	broad.mit.edu	37	chr2	189899775	189899775	+	Frame_Shift_Del	DEL	T	T	-													cgtccatgtatcctacactgTttttacagatgtaagtgatg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:189899774_189899774GT>G	uc002uqk.3	-	52	4496	c.4221_4221AC>C	c.(4219-4221)aacfs	p.N1407fs	COL5A2_uc010frx.3_Frame_Shift_Del_p.N983fs	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1407	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATCCTACACTGTTTTTACAGA	0.393													-	189899775	T	-	189899775	7	5	48	1	0	1	0	1	0	0	0	0	3697	1725	60	0	287	0	COL5A2	2	189899775	Frame_Shift_Del	DEL	T	TCGA-BR-7703-01A-11D-2053-08	10418115	189899775	53299598	114	38131											
ASNSD1	54529	broad.mit.edu	37	chr2	190531174	190531174	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcctcctgtaagaatgaaTctgagattttgtcactcttc	6	9	3	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:190531174T>C	uc002uqt.2	+	4	750	c.316T>C	c.(316-318)TCT>CCT	p.S106P		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	106	Glutamine amidotransferase type-2.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TAAGAATGAATCTGAGATTTT	0.328													C	190531174	T	C	190531174	3	2	48	1	0	0	0	0	1	0	0	0	1049	1435	50	3	318	3	ASNSD1	2	190531174	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	631399	190531174	52668199	115	38132											
DNAH7	56171	broad.mit.edu	37	chr2	196759791	196759791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaatcataaaaccatgaCgcacaatcatcatttcatat	2	11	4	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:196759791C>T	uc002utj.3	-	30	4906	c.4805G>A	c.(4804-4806)CGT>CAT	p.R1602H		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1602	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						AAAACCATGACGCACAATCAT	0.373													T	196759791	C	T	196759791	3	4	48	1	0	0	0	0	1	0	0	0	4606	536	19	1	7413	1	DNAH7	2	196759791	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	6228617	196759791	46439582	116	38133											
ALS2CR11	151254	broad.mit.edu	37	chr2	202436664	202436664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagacttaaaacacttacGtcacgggatctgttctttct	7	10	4	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:202436664G>A	uc002uye.2	-	8	881	c.833C>T	c.(832-834)ACA>ATA	p.T278I	ALS2CR11_uc002uyf.2_Missense_Mutation_p.T278I|ALS2CR11_uc010fti.2_Missense_Mutation_p.T278I	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	278										large_intestine(1)|ovary(1)|skin(1)	3						AAACACTTACGTCACGGGATC	0.353													A	202436664	G	A	202436664	3	1	48	1	0	0	0	0	1	0	0	0	552	1159	40	1	4812	1	ALS2CR11	2	202436664	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	5676873	202436664	40762709	117	38134											
ACADL	33	broad.mit.edu	37	chr2	211069401	211069401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcaaagaatagttctgcGgtatcctaagagaccataca	7	9	3	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:211069401G>A	uc002vdz.3	-	7	1002	c.774C>T	c.(772-774)ACC>ACT	p.T258T		NM_001608	NP_001599	P28330	ACADL_HUMAN	long-chain acyl-CoA dehydrogenase precursor	258					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity				0		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		ATAGTTCTGCGGTATCCTAAG	0.279													A	211069401	G	A	211069401	2	1	48	1	0	0	0	0	0	0	0	1	112	1103	39	1		1	ACADL	2	211069401	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	8632737	211069401	32129972	118	38135											
ERBB4	2066	broad.mit.edu	37	chr2	212615400	212615400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtgggtccccagcaacGgccagtacaggacttatggc	12	12	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:212615400G>A	uc002veg.1	-	5	684	c.586C>T	c.(586-588)CGT>TGT	p.R196C	ERBB4_uc002veh.1_Missense_Mutation_p.R196C|ERBB4_uc010zji.1_Missense_Mutation_p.R196C|ERBB4_uc010zjj.1_Missense_Mutation_p.R196C|ERBB4_uc010fut.1_Missense_Mutation_p.R196C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	196	Cys-rich.|Extracellular (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CCCCAGCAACGGCCAGTACAG	0.453										TSP Lung(8;0.080)			A	212615400	G	A	212615400	3	1	48	1	0	0	0	0	1	0	0	0	5209	1116	39	1	3436	1	ERBB4	2	212615400	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1545999	212615400	30583973	119	38136											
SPEG	10290	broad.mit.edu	37	chr2	220313756	220313756	+	Frame_Shift_Del	DEL	C	C	-													cagaggccaggacgaaagcaCcccccggtcggaagcgggag							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:220313756delC	uc010fwg.2	+	4	1876	c.1876delC	c.(1876-1878)CCCfs	p.P626fs	SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'Flank	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	626	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GACGAAAGCACCCCCCGGTCG	0.731											OREG0003998	type=REGULATORY REGION|Gene=AK097321|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	-	220313756	C	-	220313756	7	5	48	1	0	1	0	1	0	0	0	0	15035	507	18	0	1890	0	SPEG	2	220313756	Frame_Shift_Del	DEL	C	TCGA-BR-7703-01A-11D-2053-08	7698356	220313756	22885617	120	38137											
OBSL1	23363	broad.mit.edu	37	chr2	220430066	220430066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatcagacggtgtttgcGcccatccatcttcaccacca	8	15	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:220430066G>A	uc010fwk.2	-	6	2362	c.2305C>T	c.(2305-2307)CGC>TGC	p.R769C	OBSL1_uc010zli.1_5'Flank|OBSL1_uc010fwl.1_Missense_Mutation_p.R244C|OBSL1_uc002vmi.2_Missense_Mutation_p.R769C|OBSL1_uc002vmj.2_Missense_Mutation_p.R356C	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	769	Ig-like 5.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CGGTGTTTGCGCCCATCCATC	0.587											OREG0003987	type=REGULATORY REGION|Gene=BC061909|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	220430066	G	A	220430066	3	1	48	1	0	0	0	0	1	0	0	0	10813	1087	38	1	3601	1	OBSL1	2	220430066	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	116310	220430066	22769307	121	38138											
OBSL1	23363	broad.mit.edu	37	chr2	220434995	220434995	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcccgccgagttgcgcgcGgcgcagacgtagagcccacg	16	15	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:220434995G>A	uc010fwk.2	-	1	1017	c.960C>T	c.(958-960)GCC>GCT	p.A320A	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Silent_p.A320A|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	320	Ig-like 3.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AGTTGCGCGCGGCGCAGACGT	0.697													A	220434995	G	A	220434995	2	1	48	1	0	0	0	0	0	0	0	1	10813	1103	39	1		1	OBSL1	2	220434995	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	4929	220434995	22764378	122	38139											
CHRNG	1146	broad.mit.edu	37	chr2	233409277	233409277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagggctggtggcggcagcGctggagaagctaggtgagac	19	8	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:233409277G>A	uc002vsx.1	+	10	1257	c.1236G>A	c.(1234-1236)GCG>GCA	p.A412A	CHRNG_uc010fye.1_Silent_p.A360A	NM_005199	NP_005190	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma	412	Cytoplasmic (Potential).				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		TGGCGGCAGCGCTGGAGAAGC	0.652													A	233409277	G	A	233409277	2	1	48	1	0	0	0	0	0	0	0	1	3396	1074	38	1		1	CHRNG	2	233409277	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	12974282	233409277	9790096	123	38140											
UGT1A1	54658	broad.mit.edu	37	chr2	234669110	234669110	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggggacatgaaatagttgtCctagcacctgacgcctcgtt	11	10	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:234669110C>T	uc002vvb.2	+	1	192	c.177C>T	c.(175-177)GTC>GTT	p.V59V	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Silent_p.V59V	NM_000463	NP_000454	P22309	UD11_HUMAN	UDP glycosyltransferase 1 family, polypeptide A1	59					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			central_nervous_system(1)|skin(1)	2		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AAATAGTTGTCCTAGCACCTG	0.522													T	234669110	C	T	234669110	2	4	48	1	0	0	0	0	0	0	0	1	16941	842	30	4		4	UGT1A1	2	234669110	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1259833	234669110	8530263	124	38141											
GBX2	2637	broad.mit.edu	37	chr2	237075034	237075034	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccttgcccttcgggtcGtcttccacctttgactcgtc	7	17	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:237075034G>A	uc002vvw.1	-	2	608	c.570C>T	c.(568-570)GAC>GAT	p.D190D	GBX2_uc010zng.1_Nonsense_Mutation_p.R193*	NM_001485	NP_001476	P52951	GBX2_HUMAN	gastrulation brain homeo box 2	190				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CCTTCGGGTCGTCTTCCACCT	0.542													A	237075034	G	A	237075034	2	1	48	1	0	0	0	0	0	0	0	1	6281	1136	40	1		1	GBX2	2	237075034	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2405924	237075034	6124339	125	38142											
COL6A3	1293	broad.mit.edu	37	chr2	238274488	238274488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaagtcaaaggcctccacCgggcccgagggcgtgttggc	14	13	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:238274488C>T	uc002vwl.2	-	12	5976	c.5691G>A	c.(5689-5691)CCG>CCA	p.P1897P	COL6A3_uc002vwo.2_Silent_p.P1691P|COL6A3_uc010znj.1_Silent_p.P1290P	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1897	VWFA 10.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGCCTCCACCGGGCCCGAGG	0.627													T	238274488	C	T	238274488	2	4	48	1	0	0	0	0	0	0	0	1	3701	639	23	1		1	COL6A3	2	238274488	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1199454	238274488	4924885	126	38143											
CNTN6	27255	broad.mit.edu	37	chr3	1371501	1371502	+	Frame_Shift_Ins	INS	-	-	A													tttctccaaaagtccagttaINSaaaaaaagtcttttgttcaa							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:1371500_1371501T>TA	uc003boz.3	+	10	1512_1513	c.1245_1246T>TA	c.(1243-1248)gttaaafs	p.V415fs	CNTN6_uc011asj.2_Frame_Shift_Ins_p.V343fs|CNTN6_uc003bpa.3_Frame_Shift_Ins_p.V415fs	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	415	Ig-like C2-type 5.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane		p.K418fs*63(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAAGTCCAGTTAAAAAAAAGTC	0.391													A	1371502	-	A	1371501	7	5	48	1	0	1	1	0	0	0	0	0	3645	363	13	0	1284	0	CNTN6	3	1371501	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08		1371501	196650929	127	38144											
ITPR1	3708	broad.mit.edu	37	chr3	4816936	4816936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaattgcagaacttcctccGttgccaaaataacaagacca	5	13	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:4816936G>A	uc003bqa.2	+	44	6194	c.5846G>A	c.(5845-5847)CGT>CAT	p.R1949H	ITPR1_uc010hca.1_Missense_Mutation_p.R1934H|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.R919H	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	1997	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AACTTCCTCCGTTGCCAAAAT	0.483													A	4816936	G	A	4816936	3	1	48	1	0	0	0	0	1	0	0	0	7920	1145	40	1	6168	1	ITPR1	3	4816936	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	3445435	4816936	193205494	128	38145											
THUMPD3	25917	broad.mit.edu	37	chr3	9426229	9426229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttatctggaatgcgacacGtatggcgaaaggtggataca	13	7	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:9426229G>A	uc003bro.3	+	10	1529	c.1381G>A	c.(1381-1383)GTA>ATA	p.V461I	LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Missense_Mutation_p.V461I	NM_001114092	NP_001107564	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	461							methyltransferase activity|protein binding|RNA binding			ovary(1)	1	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		AATGCGACACGTATGGCGAAA	0.418													A	9426229	G	A	9426229	3	1	48	1	0	0	0	0	1	0	0	0	15881	1145	40	1	1415	1	THUMPD3	3	9426229	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	4609293	9426229	188596201	129	38146											
NUP210	23225	broad.mit.edu	37	chr3	13438890	13438890	+	Frame_Shift_Del	DEL	G	G	-													ggcctggatcttcagctccaGgggggagtcctccaggtaga							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:13438890delG	uc003bxv.1	-	3	486	c.403delC	c.(403-405)CTGfs	p.L135fs		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	135	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					TTCAGCTCCAGGGGGGAGTCC	0.602													-	13438890	G	-	13438890	7	5	48	1	0	1	0	1	0	0	0	0	10760	991	35	0	5412	0	NUP210	3	13438890	Frame_Shift_Del	DEL	G	TCGA-BR-7703-01A-11D-2053-08	4012661	13438890	184583540	130	38147											
GALNTL2	117248	broad.mit.edu	37	chr3	16217062	16217063	+	Frame_Shift_Ins	INS	-	-	G													gaagccccaaagagggactgINSgggggctgatgaggacgggg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:16217061_16217062T>TG	uc003car.4	+	0	878_879	c.403_404T>TG	c.(403-405)tggfs	p.W135fs	GALNTL2_uc003caq.4_Intron	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	135						Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.A137fs*2(1)		NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						AAAGAGGGACTGGGGGGCTGAT	0.639													G	16217063	-	G	16217062	7	5	48	1	0	1	1	0	0	0	0	0	6222	1357	47	0	406	0	GALNTL2	3	16217062	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	2778172	16217062	181805368	131	38148											
SATB1	6304	broad.mit.edu	37	chr3	18391065	18391065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctgctggagaggccaccGtgggttgccgtggggggagc	19	10	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:18391065G>A	uc003cbh.2	-	11	3624	c.1889C>T	c.(1888-1890)ACG>ATG	p.T630M	SATB1_uc003cbi.2_Missense_Mutation_p.T662M|SATB1_uc003cbj.2_Missense_Mutation_p.T630M	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	630					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						AGAGGCCACCGTGGGTTGCCG	0.502													A	18391065	G	A	18391065	3	1	48	1	0	0	0	0	1	0	0	0	13853	1145	40	1	406	1	SATB1	3	18391065	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2174003	18391065	179631365	132	38149											
KCNH8	131096	broad.mit.edu	37	chr3	19389429	19389429	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagcacaaccgtcagtgaCattgcagtggagattctttt	11	9	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:19389429C>T	uc003cbk.1	+	5	978	c.783C>T	c.(781-783)GAC>GAT	p.D261D	KCNH8_uc011awe.1_Silent_p.D261D|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	261	Helical; Name=Segment S2; (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						CCGTCAGTGACATTGCAGTGG	0.403													T	19389429	C	T	19389429	2	4	48	1	0	0	0	0	0	0	0	1	8038	477	17	4		4	KCNH8	3	19389429	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	998364	19389429	178633001	133	38150											
KCNH8	131096	broad.mit.edu	37	chr3	19554720	19554720	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	attcccccaaaaccaagcagGaaattgacccccccaaccat	4	17	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:19554720G>T	uc003cbk.1	+	13	2533	c.2338G>T	c.(2338-2340)GAA>TAA	p.E780*	KCNH8_uc010hex.1_Nonsense_Mutation_p.E241*	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	780	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						AACCAAGCAGGAAATTGACCC	0.478													T	19554720	G	T	19554720	4	4	48	1	0	0	0	0	0	1	0	0	8038	1175	41	5	2388	5	KCNH8	3	19554720	Nonsense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	165291	19554720	178467710	134	38151											
TGFBR2	7048	broad.mit.edu	37	chr3	30713880	30713880	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgactttgggctttcccTgcgtctggaccctactctgt	11	12	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:30713880T>C	uc003ceo.2	+	4	1587	c.1205T>C	c.(1204-1206)CTG>CCG	p.L402P	TGFBR2_uc003cen.2_Missense_Mutation_p.L427P	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	402	Protein kinase.|Cytoplasmic (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						GGGCTTTCCCTGCGTCTGGAC	0.562													C	30713880	T	C	30713880	3	2	48	1	0	0	0	0	1	0	0	0	15819	1580	55	3	1298	3	TGFBR2	3	30713880	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	11159160	30713880	167308550	135	38152											
VILL	50853	broad.mit.edu	37	chr3	38045884	38045884	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatgttactggacacctgGcaggaggtaaggtggccatc	13	9	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:38045884G>A	uc003chj.2	+	16	2230	c.1944G>A	c.(1942-1944)TGG>TGA	p.W648*	VILL_uc003chl.2_Nonsense_Mutation_p.W648*	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	648	Gelsolin-like 6.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGACACCTGGCAGGAGGTAA	0.562											OREG0015475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	38045884	G	A	38045884	4	1	48	1	0	0	0	0	0	1	0	0	17162	1212	42	2	2002	2	VILL	3	38045884	Nonsense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	7332004	38045884	159976546	136	38153											
SCN5A	6331	broad.mit.edu	37	chr3	38591857	38591857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggagaaggggggaagtcGgcgagatcttcactgtggct	17	8	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:38591857G>A	uc003cio.2	-	28	6200	c.6006C>T	c.(6004-6006)GCC>GCT	p.A2002A	SCN5A_uc003cin.2_Silent_p.A2001A|SCN5A_uc003cil.3_Silent_p.A2002A|SCN5A_uc010hhi.2_Silent_p.A1984A|SCN5A_uc010hhk.2_Silent_p.A1969A|SCN5A_uc011ayr.1_Silent_p.A1948A	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	2002					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGGGGAAGTCGGCGAGATCTT	0.592													A	38591857	G	A	38591857	2	1	48	1	0	0	0	0	0	0	0	1	13922	1103	39	1		1	SCN5A	3	38591857	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	545973	38591857	159430573	137	38154											
WDR48	57599	broad.mit.edu	37	chr3	39135499	39135501	+	In_Frame_Del	DEL	AAG	AAG	-													aaaaccaggagaacaggaaaAagaagaagatattgctgtgt							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:39135499_39135501delAAG	uc003cit.2	+	18	1890_1892	c.1880_1882delAAG	c.(1879-1884)AAAGAA>AAA	p.E629del	WDR48_uc011ayt.1_In_Frame_Del_p.E620del|WDR48_uc011ayu.1_In_Frame_Del_p.E547del|WDR48_uc011ayv.1_In_Frame_Del_p.E354del|WDR48_uc003ciu.2_RNA	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	629					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			ovary(1)|breast(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAACAGGAAAAAGAAGAAGATAT	0.389													-	39135501	AAG	-	39135499	7	5	48	1	0	1	0	1	0	0	0	0	17298	14	1	0	1950	0	WDR48	3	39135499	In_Frame_Del	DEL	AAG	TCGA-BR-7703-01A-11D-2053-08	543642	39135499	158886931	138	38155											
GORASP1	64689	broad.mit.edu	37	chr3	39145036	39145038	+	In_Frame_Del	DEL	CTC	CTC	-													gcctgctgggctggggagttCtcctgcacctatcccacagc							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:39145036_39145038delCTC	uc003ciw.1	-	2	168_170	c.70_72delGAG	c.(70-72)GAGdel	p.E24del	GORASP1_uc003civ.1_RNA|GORASP1_uc003cix.1_RNA|GORASP1_uc003ciy.1_RNA|GORASP1_uc011ayw.1_Intron|GORASP1_uc003ciz.1_Intron	NM_031899	NP_114105	Q9BQQ3	GORS1_HUMAN	Golgi reassembly stacking protein 1	24	PDZ.				mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane				ovary(2)|central_nervous_system(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CTGGGGAGTTCTCCTGCACCTAT	0.591													-	39145038	CTC	-	39145036	7	5	48	1	0	1	0	1	0	0	0	0	6575	912	32	0	1282	0	GORASP1	3	39145036	In_Frame_Del	DEL	CTC	TCGA-BR-7703-01A-11D-2053-08	9537	39145036	158877394	139	38156											
XIRP1	165904	broad.mit.edu	37	chr3	39227535	39227535	+	Frame_Shift_Del	DEL	C	C	-													ccatcctgaattgtcacccaCcccccaggcagccctctggg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:39227534_39227534AC>A	uc003cjk.2	-	1	3632	c.3403_3403GT>T	c.(3403-3405)tggfs	p.W1135fs	XIRP1_uc003cji.3_Intron|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Frame_Shift_Del_p.W1135fs	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1135							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ATTGTCACCCACCCCCCAGGC	0.602													-	39227535	C	-	39227535	7	5	48	1	0	1	0	1	0	0	0	0	17426	494	18	0	2133	0	XIRP1	3	39227535	Frame_Shift_Del	DEL	C	TCGA-BR-7703-01A-11D-2053-08	82499	39227535	158794895	140	38157											
NKTR	4820	broad.mit.edu	37	chr3	42674107	42674107	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaagtttttgagaaaaaaAggaagaaaccaactcattca	6	5	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:42674107A>G	uc003clo.2	+	9	712	c.565A>G	c.(565-567)AGG>GGG	p.R189G	NKTR_uc003clm.1_5'UTR|NKTR_uc003clp.2_5'UTR|NKTR_uc011azp.1_Missense_Mutation_p.R79G|NKTR_uc003clq.1_Missense_Mutation_p.R79G|NKTR_uc003clr.1_5'UTR|NKTR_uc003cls.2_5'UTR	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	189					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGAGAAAAAAAGGAAGAAACC	0.328													G	42674107	A	G	42674107	3	3	48	1	0	0	0	0	1	0	0	0	10448	63	3	3	595	3	NKTR	3	42674107	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	3446572	42674107	155348323	141	38158											
CDCP1	64866	broad.mit.edu	37	chr3	45153659	45153659	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtaaggccattttcactcCttcttgcatcttgatccggg	9	11	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:45153659C>A	uc003com.2	-	3	706	c.571G>T	c.(571-573)GGA>TGA	p.G191*	CDCP1_uc003con.2_Nonsense_Mutation_p.G191*	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	191	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		ATTTTCACTCCTTCTTGCATC	0.542													A	45153659	C	A	45153659	4	1	48	1	0	0	0	0	0	1	0	0	3093	690	24	5	1975	5	CDCP1	3	45153659	Nonsense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2479552	45153659	152868771	142	38159											
LIMD1	8994	broad.mit.edu	37	chr3	45637136	45637136	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggcattggtggccgcagCagcgagaagccaacaggcct	15	11	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:45637136C>T	uc003coq.2	+	1	814	c.765C>T	c.(763-765)AGC>AGT	p.S255S		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	255					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GTGGCCGCAGCAGCGAGAAGC	0.632													T	45637136	C	T	45637136	2	4	48	1	0	0	0	0	0	0	0	1	8798	709	25	2		2	LIMD1	3	45637136	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	483477	45637136	152385294	143	38160											
LZTFL1	54585	broad.mit.edu	37	chr3	45877148	45877148	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcagcttgtgcaaacagcTgtcgcagaagtaacacattg	9	10	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:45877148T>C	uc003cox.1	-	3	395	c.257A>G	c.(256-258)CAG>CGG	p.Q86R	LZTFL1_uc003coy.1_Missense_Mutation_p.Q69R|LZTFL1_uc011bak.1_RNA	NM_020347	NP_065080	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	86											0				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TGCAAACAGCTGTCGCAGAAG	0.413													C	45877148	T	C	45877148	3	2	48	1	0	0	0	0	1	0	0	0	9136	1580	55	3	674	3	LZTFL1	3	45877148	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	240012	45877148	152145282	144	38161											
LTF	4057	broad.mit.edu	37	chr3	46497878	46497878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaagggtcacagcatcgGccctgttttcctgaaagtaa	9	11	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:46497878G>A	uc003cpq.2	-	3	256	c.218C>T	c.(217-219)GCC>GTC	p.A73V	LTF_uc003fzr.2_Missense_Mutation_p.A29V|LTF_uc010hjh.2_Missense_Mutation_p.A73V|LTF_uc003cpr.2_Missense_Mutation_p.A60V	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	73	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			central_nervous_system(2)|ovary(1)|lung(1)	4				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	CACAGCATCGGCCCTGTTTTC	0.542													A	46497878	G	A	46497878	3	1	48	1	0	0	0	0	1	0	0	0	9079	1203	42	2	1974	2	LTF	3	46497878	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	620730	46497878	151524552	145	38162											
KIF9	64147	broad.mit.edu	37	chr3	47277592	47277592	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggcttcagtgccatctGcatgtcctcagggatgacaa	11	12	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:47277592G>A	uc010hjp.2	-	20	2753	c.2149C>T	c.(2149-2151)CAG>TAG	p.Q717*	KIF9_uc003cqx.2_Nonsense_Mutation_p.Q717*|KIF9_uc003cqy.2_Nonsense_Mutation_p.Q652*|KIF9_uc011bat.1_RNA|uc003cqw.1_RNA	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN	kinesin family member 9 isoform 2	717					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGTGCCATCTGCATGTCCTCA	0.567													A	47277592	G	A	47277592	4	1	48	1	0	0	0	0	0	1	0	0	8310	1328	46	2	235	2	KIF9	3	47277592	Nonsense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	779714	47277592	150744838	146	38163											
ZNF589	51385	broad.mit.edu	37	chr3	48310025	48310025	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttatgtctgcggagagtgtGggcgaggctttatagttgag	16	5	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:48310025G>T	uc003csl.3	+	4	910	c.844G>T	c.(844-846)GGG>TGG	p.G282W	ZNF589_uc010hjt.1_Missense_Mutation_p.G279W|ZNF589_uc003csn.2_RNA|ZNF589_uc011bbg.1_Intron|ZNF589_uc003csm.2_Intron	NM_016089	NP_057173	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	282	C2H2-type 2.				regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGGAGAGTGTGGGCGAGGCTT	0.547													T	48310025	G	T	48310025	3	4	48	1	0	0	0	0	1	0	0	0	18018	1348	47	5	858	5	ZNF589	3	48310025	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1032433	48310025	149712405	147	38164											
MAPKAPK3	7867	broad.mit.edu	37	chr3	50683579	50683579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttcccccagcctttgtgGcttcccacccttctactcca	4	21	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:50683579G>A	uc003day.1	+	10	1309	c.713G>A	c.(712-714)GGC>GAC	p.G238D	MAPKAPK3_uc003daz.1_Missense_Mutation_p.G238D|MAPKAPK3_uc003dba.1_Missense_Mutation_p.G238D|MAPKAPK3_uc010hlr.1_Missense_Mutation_p.G238D	NM_004635	NP_004626	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated	238	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		AGCCTTTGTGGCTTCCCACCC	0.607													A	50683579	G	A	50683579	3	1	48	1	0	0	0	0	1	0	0	0	9290	1203	42	2	739	2	MAPKAPK3	3	50683579	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2373554	50683579	147338851	148	38165											
TLR9	54106	broad.mit.edu	37	chr3	52257585	52257585	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggcaatttccgcccacatcGagcacacgcagggcggtcag	12	15	1	0	rs140856643	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:52257585G>A	uc003dda.1	-	2	1381	c.747C>T	c.(745-747)CTC>CTT	p.L249L	TLR9_uc003ddb.2_Silent_p.L346L	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	249	LRR 8.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CGCCCACATCGAGCACACGCA	0.622													A	52257585	G	A	52257585	2	1	48	1	0	0	0	0	0	0	0	1	15955	1045	37	1		1	TLR9	3	52257585	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1574006	52257585	145764845	149	38166											
NISCH	11188	broad.mit.edu	37	chr3	52523363	52523363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatacagcaatgaccagcGtccccaggaggtcccagcag	13	13	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:52523363G>A	uc011beg.1	+	18	3197	c.3125G>A	c.(3124-3126)CGT>CAT	p.R1042H	NISCH_uc003ded.3_Missense_Mutation_p.R1042H|NISCH_uc003dee.3_Missense_Mutation_p.R531H|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1042					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		AATGACCAGCGTCCCCAGGAG	0.343													A	52523363	G	A	52523363	3	1	48	1	0	0	0	0	1	0	0	0	10432	1145	40	1	3191	1	NISCH	3	52523363	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	265778	52523363	145499067	150	38167											
GLT8D1	55830	broad.mit.edu	37	chr3	52730572	52730572	+	Frame_Shift_Del	DEL	C	C	-													actcacaggtttcatggattCcccctggtcaggatcctcct							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:52730572delC	uc003dfi.3	-	5	572	c.433delG	c.(433-435)GAAfs	p.E145fs	GLT8D1_uc003dfj.2_Frame_Shift_Del_p.E145fs|GLT8D1_uc003dfk.2_Frame_Shift_Del_p.E145fs|GLT8D1_uc003dfl.2_Frame_Shift_Del_p.E145fs|GLT8D1_uc003dfm.2_Frame_Shift_Del_p.E145fs|GLT8D1_uc003dfn.2_Frame_Shift_Del_p.E145fs|GLT8D1_uc003dfo.1_Frame_Shift_Del_p.E145fs	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	145	Lumenal (Potential).					integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups				0				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TTCATGGATTCCCCCTGGTCA	0.418													-	52730572	C	-	52730572	7	5	48	1	0	1	0	1	0	0	0	0	6469	864	30	0	706	0	GLT8D1	3	52730572	Frame_Shift_Del	DEL	C	TCGA-BR-7703-01A-11D-2053-08	207209	52730572	145291858	151	38168											
NEK4	6787	broad.mit.edu	37	chr3	52771700	52771701	+	Frame_Shift_Ins	INS	-	-	CTAGTCTC													tcagttctcaagacttcaacINStagtctcctgatcttttcag							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:52771699_52771700A>ACTAGTCTC	uc003dfq.4	-	14	2538_2539	c.2335_2336T>GAGACTAGT	c.(2335-2337)gttfs	p.V779fs	NEK4_uc011bej.2_Frame_Shift_Ins_p.V690fs|NEK4_uc003dfr.3_Frame_Shift_Ins_p.V733fs	NM_003157	NP_003148	P51957	NEK4_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA.	779					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CAAGACTTCAACTAGTCTCCTG	0.406													CTAGTCTC	52771701	-	CTAGTCTC	52771700	7	5	48	1	0	1	1	0	0	0	0	0	10326	565	20	0	198	0	NEK4	3	52771700	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	41128	52771700	145250730	152	38169											
CACNA1D	776	broad.mit.edu	37	chr3	53766961	53766961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccatccctgaagggagcGctttcttcattcttagcaag	8	14	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:53766961G>A	uc003dgv.3	+	19	2756	c.2593G>A	c.(2593-2595)GCT>ACT	p.A865T	CACNA1D_uc003dgu.3_Missense_Mutation_p.A885T|CACNA1D_uc003dgy.3_Missense_Mutation_p.A865T|CACNA1D_uc003dgw.3_Missense_Mutation_p.A532T|CACNA1D_uc003dgx.1_Missense_Mutation_p.A13T	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	865	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGAAGGGAGCGCTTTCTTCAT	0.507													A	53766961	G	A	53766961	3	1	48	1	0	0	0	0	1	0	0	0	2541	1087	38	1	2839	1	CACNA1D	3	53766961	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	995261	53766961	144255469	153	38170											
CCDC66	285331	broad.mit.edu	37	chr3	56651334	56651334	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacaatcggtgtaatgacCagtgtaatcagttcacaaga	8	7	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:56651334C>T	uc003dhz.2	+	14	2125	c.2038C>T	c.(2038-2040)CAG>TAG	p.Q680*	CCDC66_uc003dhy.2_Nonsense_Mutation_p.Q316*|CCDC66_uc003dhu.2_Nonsense_Mutation_p.Q646*|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dia.2_Nonsense_Mutation_p.Q48*	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66 isoform 1	680										breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GTGTAATGACCAGTGTAATCA	0.353													T	56651334	C	T	56651334	4	4	48	1	0	0	0	0	0	1	0	0	2838	595	21	4	2092	4	CCDC66	3	56651334	Nonsense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2884373	56651334	141371096	154	38171											
FLNB	2317	broad.mit.edu	37	chr3	58121816	58121816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatgattggagtcacctaCgggggtgacgacatcccact	11	10	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:58121816C>T	uc003djj.2	+	28	4947	c.4782C>T	c.(4780-4782)TAC>TAT	p.Y1594Y	FLNB_uc010hne.2_Silent_p.Y1625Y|FLNB_uc003djk.2_Silent_p.Y1594Y|FLNB_uc010hnf.2_Silent_p.Y1594Y|FLNB_uc003djl.2_Silent_p.Y1425Y|FLNB_uc003djm.2_Silent_p.Y1425Y	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	1594	Filamin 14.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GAGTCACCTACGGGGGTGACG	0.537													T	58121816	C	T	58121816	2	4	48	1	0	0	0	0	0	0	0	1	5934	547	19	1		1	FLNB	3	58121816	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1470482	58121816	139900614	155	38172											
CNTN3	5067	broad.mit.edu	37	chr3	74418379	74418379	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggcaacattttttcctcGtgaattctcagcaatgcatt	6	10	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:74418379G>A	uc003dpm.1	-	7	987	c.907C>T	c.(907-909)CGA>TGA	p.R303*		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	303	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTTTTTCCTCGTGAATTCTCA	0.398													A	74418379	G	A	74418379	4	1	48	1	0	0	0	0	0	1	0	0	3642	1153	40	1	2243	1	CNTN3	3	74418379	Nonsense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	16296563	74418379	123604051	156	38173											
OR5K1	26339	broad.mit.edu	37	chr3	98188635	98188635	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctggctcttgtggattcttGctgtgcctgtgctattaccc	10	11	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:98188635G>T	uc003dsm.2	+	1	215	c.215G>T	c.(214-216)TGC>TTC	p.C72F		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1						GTGGATTCTTGCTGTGCCTGT	0.418													T	98188635	G	T	98188635	3	4	48	1	0	0	0	0	1	0	0	0	11166	1319	46	5	217	5	OR5K1	3	98188635	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	23770256	98188635	99833795	157	38174											
PVRL3	25945	broad.mit.edu	37	chr3	110831167	110831167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaatacatctgcaaagctGttacattcccgcttggaaat	7	9	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:110831167G>A	uc003dxt.1	+	2	451	c.451G>A	c.(451-453)GTT>ATT	p.V151I	PVRL3_uc003dxu.1_Missense_Mutation_p.V128I	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3 precursor	151	Extracellular (Potential).|Ig-like V-type.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			upper_aerodigestive_tract(2)	2						CTGCAAAGCTGTTACATTCCC	0.363													A	110831167	G	A	110831167	3	1	48	1	0	0	0	0	1	0	0	0	12841	1377	48	4	457	4	PVRL3	3	110831167	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	12642532	110831167	87191263	158	38175											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-													cacctgggggtgtgcctgcaGggggggtcccattgctggca							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:114058003delG	uc003ebi.2	-	5	2255	c.2075delC	c.(2074-2076)CCTfs	p.P692fs	ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P619fs	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632													-	114058003	G	-	114058003	7	5	48	1	0	1	0	1	0	0	0	0	17526	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-BR-7703-01A-11D-2053-08	3226836	114058003	83964427	159	38176											
POLQ	10721	broad.mit.edu	37	chr3	121207489	121207489	+	Frame_Shift_Del	DEL	A	A	-													cagaaacttcattcttttttAaaaaaagaccattttcctcc							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:121207488_121207488TA>T	uc003eee.4	-	15	4419	c.4290_4290TA>A	c.(4288-4290)ttafs	p.L1430fs	POLQ_uc003eed.3_Frame_Shift_Del_p.L602fs	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1430					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CATTCTTTTTTAAAAAAAGAC	0.343								DNA polymerases (catalytic subunits)					-	121207489	A	-	121207489	7	5	48	1	0	1	0	1	0	0	0	0	12208	372	13	0	3543	0	POLQ	3	121207489	Frame_Shift_Del	DEL	A	TCGA-BR-7703-01A-11D-2053-08	7149486	121207489	76814941	160	38177											
HCLS1	3059	broad.mit.edu	37	chr3	121350739	121350739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggaagagtccaaagtggCcatggcaacgtccccgccac	12	14	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:121350739C>T	uc003eeh.3	-	14	1540	c.1415G>A	c.(1414-1416)GGC>GAC	p.G472D	HCLS1_uc011bjj.1_Missense_Mutation_p.G435D	NM_005335	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	472	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(114;0.0912)		TCCAAAGTGGCCATGGCAACG	0.522													T	121350739	C	T	121350739	3	4	48	1	0	0	0	0	1	0	0	0	6995	739	26	2	49	2	HCLS1	3	121350739	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	143250	121350739	76671691	161	38178											
ILDR1	286676	broad.mit.edu	37	chr3	121712444	121712444	+	Frame_Shift_Del	DEL	C	C	-													tccaatgcccaagactttggCccccggtcctggagctcctg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:121712443_121712443GC>G	uc003ees.3	-	6	1356	c.1153_1153GC>C	c.(1153-1155)ccafs	p.P385fs	ILDR1_uc003eeq.3_Frame_Shift_Del_p.P353fs|ILDR1_uc003eer.3_Frame_Shift_Del_p.P341fs|ILDR1_uc010hrg.3_Frame_Shift_Del_p.P296fs	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	385						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CAAGACTTTGGCCCCCGGTCC	0.592													-	121712444	C	-	121712444	7	5	48	1	0	1	0	1	0	0	0	0	7709	726	26	0	496	0	ILDR1	3	121712444	Frame_Shift_Del	DEL	C	TCGA-BR-7703-01A-11D-2053-08	361705	121712444	76309986	162	38179											
CASR	846	broad.mit.edu	37	chr3	122002860	122002860	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagccggcctttggcatcAgcttcgtgctctgcatctca	10	15	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:122002860A>G	uc003eev.3	+	7	2431	c.2059A>G	c.(2059-2061)AGC>GGC	p.S687G	CASR_uc003eew.3_Missense_Mutation_p.S697G	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	687	Helical; Name=3; (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTTTGGCATCAGCTTCGTGCT	0.617													G	122002860	A	G	122002860	3	3	48	1	0	0	0	0	1	0	0	0	2682	188	7	3	2111	3	CASR	3	122002860	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	290416	122002860	76019570	163	38180											
DTX3L	151636	broad.mit.edu	37	chr3	122284875	122284875	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggtgatatgcatcaacaTgaaggacatattcctaatgc	8	8	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:122284875T>C	uc003efk.2	+	2	446	c.357T>C	c.(355-357)CAT>CAC	p.H119H	DTX3L_uc010hrj.2_Silent_p.H119H|PARP9_uc003eff.3_5'Flank|PARP9_uc010hri.2_5'Flank|PARP9_uc011bjs.1_5'Flank|PARP9_uc003efg.2_5'Flank|PARP9_uc003efi.2_5'Flank|PARP9_uc003efh.2_5'Flank|PARP9_uc003efj.2_5'Flank	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	deltex 3-like	119					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)	4				GBM - Glioblastoma multiforme(114;0.0459)		TGCATCAACATGAAGGACATA	0.458													C	122284875	T	C	122284875	2	2	48	1	0	0	0	0	0	0	0	1	4796	1461	51	3		3	DTX3L	3	122284875	Silent	SNP	T	TCGA-BR-7703-01A-11D-2053-08	282015	122284875	75737555	164	38181											
AMOTL2	51421	broad.mit.edu	37	chr3	134089854	134089854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggcctcgtcctgcctcCgactgcctcccggggcccca	12	20	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:134089854C>T	uc003eqf.2	-	2	713	c.596G>A	c.(595-597)CGG>CAG	p.R199Q	AMOTL2_uc003eqg.1_Missense_Mutation_p.R141Q|AMOTL2_uc003eqh.1_Missense_Mutation_p.R141Q	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	141										large_intestine(1)	1						GTCCTGCCTCCGACTGCCTCC	0.706													T	134089854	C	T	134089854	3	4	48	1	0	0	0	0	1	0	0	0	584	652	23	1	1956	1	AMOTL2	3	134089854	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	11804979	134089854	63932576	165	38182											
MSL2	55167	broad.mit.edu	37	chr3	135870433	135870433	+	Frame_Shift_Del	DEL	T	T	-													ttttcctttactgctttgtcTtttttaagaatacctggctt							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:135870432_135870432CT>C	uc003eqx.1	-	1	2024	c.1291_1291AG>G	c.(1291-1293)gacfs	p.D431fs	MSL2_uc011bmb.1_Frame_Shift_Del_p.D357fs|MSL2_uc021xel.1_Frame_Shift_Del_p.D357fs	NM_018133	NP_001138889	Q9HCI7	MSL2_HUMAN	Homo sapiens male-specific lethal 2 homolog (Drosophila) (MSL2), transcript variant 1, mRNA.	431	Lys-rich.				histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						ACTGCTTTGTCTTTTTTAAGA	0.363													-	135870433	T	-	135870433	7	5	48	1	0	1	0	1	0	0	0	0	9878	1606	56	0	447	0	MSL2	3	135870433	Frame_Shift_Del	DEL	T	TCGA-BR-7703-01A-11D-2053-08	1780579	135870433	62151997	166	38183											
NCK1	4690	broad.mit.edu	37	chr3	136664679	136664679	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttcccttcaaactatgtaActgaagaaggtgacagtcct	9	9	1	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:136664679A>G	uc003erh.2	+	3	588	c.481A>G	c.(481-483)ACT>GCT	p.T161A	NCK1_uc011bme.1_Missense_Mutation_p.T97A	NM_006153	NP_006144	P16333	NCK1_HUMAN	NCK adaptor protein 1	161	SH3 2.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			pancreas(1)	1						AAACTATGTAACTGAAGAAGG	0.463													G	136664679	A	G	136664679	3	3	48	1	0	0	0	0	1	0	0	0	10219	43	2	3	487	3	NCK1	3	136664679	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	794246	136664679	61357751	167	38184											
COMMD2	51122	broad.mit.edu	37	chr3	149459487	149459487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtttaatctgttgccTgagacttctacttgcaagct	9	9	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:149459487T>C	uc003exk.2	-	5	468	c.421A>G	c.(421-423)AGG>GGG	p.R141G	COMMD2_uc003exj.1_5'Flank	NM_016094	NP_057178	Q86X83	COMD2_HUMAN	COMM domain containing 2	141	COMM.						protein binding				0			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ATCTGTTGCCTGAGACTTCTA	0.343													C	149459487	T	C	149459487	3	2	48	1	0	0	0	0	1	0	0	0	3716	1579	55	3	182	3	COMMD2	3	149459487	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	12794808	149459487	48562943	168	38185											
P2RY1	5028	broad.mit.edu	37	chr3	152554180	152554180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaaaaccatcacctgttaCgacaccacctcagacgagta	5	14	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:152554180C>T	uc003ezq.2	+	1	1445	c.609C>T	c.(607-609)TAC>TAT	p.Y203Y		NM_002563	NP_002554	P47900	P2RY1_HUMAN	purinergic receptor P2Y1	203	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TCACCTGTTACGACACCACCT	0.537													T	152554180	C	T	152554180	2	4	48	1	0	0	0	0	0	0	0	1	11346	547	19	1		1	P2RY1	3	152554180	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	3094693	152554180	45468250	169	38186											
SLITRK3	22865	broad.mit.edu	37	chr3	164906366	164906366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgtagatggggttgttGcacatttgggtaaccgggtg	17	5	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:164906366G>A	uc003fej.3	-	2	2697	c.2253C>T	c.(2251-2253)TGC>TGT	p.C751C	SLITRK3_uc003fek.2_Silent_p.C751C	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	751	Cytoplasmic (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						TGGGGTTGTTGCACATTTGGG	0.527										HNSCC(40;0.11)			A	164906366	G	A	164906366	2	1	48	1	0	0	0	0	0	0	0	1	14744	1311	46	2		2	SLITRK3	3	164906366	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	12352186	164906366	33116064	170	38187											
BCHE	590	broad.mit.edu	37	chr3	165548346	165548346	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcaacccgagccagaaacTtgccatcataaacatgtaaa	5	11	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:165548346T>G	uc003fem.3	-	2	636	c.476A>C	c.(475-477)AAG>ACG	p.K159T	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	159					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AGCCAGAAACTTGCCATCATA	0.428													G	165548346	T	G	165548346	3	3	48	1	0	0	0	0	1	0	0	0	1358	1609	56	5	1344	5	BCHE	3	165548346	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	641980	165548346	32474084	171	38188											
MYNN	55892	broad.mit.edu	37	chr3	169497261	169497261	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggcacatgagaatacaTaaaggagtcaaaccttacgt	9	7	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:169497261T>C	uc003fft.2	+	3	1401	c.972T>C	c.(970-972)CAT>CAC	p.H324H	MYNN_uc011bpm.1_Silent_p.H210H|MYNN_uc003ffu.2_Silent_p.H324H|MYNN_uc003ffv.2_Silent_p.H51H|MYNN_uc010hwo.2_Silent_p.H324H|MYNN_uc003ffw.1_RNA	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	myoneurin	324	C2H2-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TGAGAATACATAAAGGAGTCA	0.448													C	169497261	T	C	169497261	2	2	48	1	0	0	0	0	0	0	0	1	10061	1403	49	3		3	MYNN	3	169497261	Silent	SNP	T	TCGA-BR-7703-01A-11D-2053-08	3948915	169497261	28525169	172	38189											
PLD1	5337	broad.mit.edu	37	chr3	171330108	171330108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcgggcaaaccggccaGcttggtactcttttccatcc	9	15	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:171330108G>A	uc003fhs.2	-	25	2959	c.2843C>T	c.(2842-2844)GCT>GTT	p.A948V	PLD1_uc003fht.2_Missense_Mutation_p.A910V|PLD1_uc003fhu.3_Missense_Mutation_p.A242V	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	948					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AAACCGGCCAGCTTGGTACTC	0.522													A	171330108	G	A	171330108	3	1	48	1	0	0	0	0	1	0	0	0	12045	971	34	2	393	2	PLD1	3	171330108	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1832847	171330108	26692322	173	38190											
ACTL6A	86	broad.mit.edu	37	chr3	179305773	179305773	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatgaagaaggagggaagcAgtgtgtagaaagaaaatgcc	14	3	0	4			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:179305773A>C	uc003fjw.2	+	14	1438	c.1265A>C	c.(1264-1266)CAG>CCG	p.Q422P	ACTL6A_uc003fjx.2_Missense_Mutation_p.Q380P|ACTL6A_uc003fjy.2_Missense_Mutation_p.Q380P	NM_004301	NP_004292	O96019	ACL6A_HUMAN	actin-like 6A isoform 1	422					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			ovary(1)	1	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			GGAGGGAAGCAGTGTGTAGAA	0.368													C	179305773	A	C	179305773	3	2	48	1	0	0	0	0	1	0	0	0	198	188	7	5	1319	5	ACTL6A	3	179305773	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	7975665	179305773	18716657	174	38191											
KLHL6	89857	broad.mit.edu	37	chr3	183273234	183273234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagatgacatctgtcagagCgttttccattcgcagggttt	10	9	2	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:183273234C>T	uc003flr.2	-	1	266	c.208G>A	c.(208-210)GCT>ACT	p.A70T	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Missense_Mutation_p.A68T	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	70										haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TCTGTCAGAGCGTTTTCCATT	0.502													T	183273234	C	T	183273234	3	4	48	1	0	0	0	0	1	0	0	0	8393	768	27	1	1685	1	KLHL6	3	183273234	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	3967461	183273234	14749196	175	38192											
EHHADH	1962	broad.mit.edu	37	chr3	184922258	184922258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttttccacgatgctcCggagggagttgaccacttat	11	10	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:184922258C>T	uc003fpf.2	-	6	883	c.856G>A	c.(856-858)GGA>AGA	p.G286R	EHHADH_uc011brs.1_Missense_Mutation_p.G190R	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	286	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	CACGATGCTCCGGAGGGAGTT	0.488													T	184922258	C	T	184922258	3	4	48	1	0	0	0	0	1	0	0	0	4982	661	23	1	1323	1	EHHADH	3	184922258	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1649024	184922258	13100172	176	38193											
LPP	4026	broad.mit.edu	37	chr3	188242523	188242523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagattgactccttgaccaGcatcttggctgaccttgagt	10	10	1	5			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:188242523G>A	uc003frs.1	+	5	623	c.377G>A	c.(376-378)AGC>AAC	p.S126N	LPP_uc011bsg.1_Missense_Mutation_p.S126N|LPP_uc011bsi.1_Missense_Mutation_p.S126N|LPP_uc003frt.2_Missense_Mutation_p.S126N	NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	126	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TCCTTGACCAGCATCTTGGCT	0.542			T	HMGA2|MLL|C12orf9	lipoma|leukemia								A	188242523	G	A	188242523	3	1	48	1	0	0	0	0	1	0	0	0	8923	971	34	2	387	2	LPP	3	188242523	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	3320265	188242523	9779907	177	38194											
CCDC50	152137	broad.mit.edu	37	chr3	191097971	191097971	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgaagccaagagtgatgaaaGaagctgtatctactccatca	9	8	2	5			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:191097971G>T	uc003fsw.2	+	6	1062	c.472G>T	c.(472-474)GAA>TAA	p.E158*	CCDC50_uc003fsv.2_Nonsense_Mutation_p.E334*	NM_174908	NP_777568	Q8IVM0	CCD50_HUMAN	Ymer protein short isoform	158						cytoplasm	protein binding				0	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AGTGATGAAAGAAGCTGTATC	0.348													T	191097971	G	T	191097971	4	4	48	1	0	0	0	0	0	1	0	0	2820	943	33	5	1026	5	CCDC50	3	191097971	Nonsense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2855448	191097971	6924459	178	38195											
PCGF3	10336	broad.mit.edu	37	chr4	728799	728799	+	Frame_Shift_Del	DEL	C	C	-													attgtgatccaccagagccaCcccctgcagtacatcgggtg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:728798_728798AC>A	uc011bva.1	+	5	663	c.188_188AC>A	c.(187-189)cacfs	p.H63fs	PCGF3_uc003gbc.1_Non-coding_Transcript|PCGF3_uc003gbd.1_Non-coding_Transcript|PCGF3_uc003gbe.3_Frame_Shift_Del_p.H63fs|PCGF3_uc010ibh.3_Frame_Shift_Del_p.H63fs|PCGF3_uc003gbh.3_Frame_Shift_Del_p.H29fs	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN	Homo sapiens polycomb group ring finger 3 (PCGF3), mRNA.	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						CACCAGAGCCACCCCCTGCAG	0.607													-	728799	C	-	728799	7	5	48	1	0	1	0	1	0	0	0	0	11576	506	18	0	195	0	PCGF3	4	728799	Frame_Shift_Del	DEL	C	TCGA-BR-7703-01A-11D-2053-08		728799	190425477	179	38196											
HTT	3064	broad.mit.edu	37	chr4	3230455	3230455	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccttcgtcaccacccacGtctccagtcaactccaggtt	6	18	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:3230455G>A	uc011bvq.1	+	59	8113	c.7968G>A	c.(7966-7968)ACG>ACA	p.T2656T		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2654					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CACCACCCACGTCTCCAGTCA	0.388													A	3230455	G	A	3230455	2	1	48	1	0	0	0	0	0	0	0	1	7457	1132	40	1		1	HTT	4	3230455	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2501656	3230455	187923821	180	38197											
EVC	2121	broad.mit.edu	37	chr4	5733298	5733298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgcagctcctcatccagCgtccactcggccaccagcga	9	18	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:5733298C>T	uc003gil.1	+	4	715	c.531C>T	c.(529-531)AGC>AGT	p.S177S	EVC_uc003gim.1_RNA	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	177					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				CCTCATCCAGCGTCCACTCGG	0.632													T	5733298	C	T	5733298	2	4	48	1	0	0	0	0	0	0	0	1	5285	767	27	1		1	EVC	4	5733298	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2502843	5733298	185420978	181	38198											
CPZ	8532	broad.mit.edu	37	chr4	8603164	8603164	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggccctacttccttgacTgccaccgctacttcacgaga	7	17	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:8603164T>C	uc003glm.2	+	3	562	c.436T>C	c.(436-438)TGC>CGC	p.C146R	CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.C9R|CPZ_uc003glo.2_Missense_Mutation_p.C135R|CPZ_uc003glp.2_RNA	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z isoform 1	146	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3						CTTCCTTGACTGCCACCGCTA	0.657													C	8603164	T	C	8603164	3	2	48	1	0	0	0	0	1	0	0	0	3839	1580	55	3	446	3	CPZ	4	8603164	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	2869866	8603164	182551112	182	38199											
DRD5	1816	broad.mit.edu	37	chr4	9783746	9783746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgccgtggggggctcggcGggggcaccgccactggggcc	20	14	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:9783746G>A	uc003gmb.3	+	1	489	c.93G>A	c.(91-93)GCG>GCA	p.A31A		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	31	Extracellular (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GGGGCTCGGCGGGGGCACCGC	0.697													A	9783746	G	A	9783746	2	1	48	1	0	0	0	0	0	0	0	1	4760	1103	39	1		1	DRD5	4	9783746	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1180582	9783746	181370530	183	38200											
CC2D2A	57545	broad.mit.edu	37	chr4	15569074	15569074	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccccaagcacgtacagccCaacccacaatgctgactacc	5	18	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:15569074C>A	uc010idv.2	+	26	3502	c.3257C>A	c.(3256-3258)CCA>CAA	p.P1086Q	CC2D2A_uc003gnx.2_Missense_Mutation_p.P1037Q|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	1086	C2.				cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3						ACGTACAGCCCAACCCACAAT	0.478													A	15569074	C	A	15569074	3	1	48	1	0	0	0	0	1	0	0	0	2728	594	21	5	3554	5	CC2D2A	4	15569074	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	5785328	15569074	175585202	184	38201											
GPR125	166647	broad.mit.edu	37	chr4	22389604	22389605	+	Frame_Shift_Del	DEL	TC	TC	-													tgctggggtgggttgtactgTctctctctgtaggctaaata							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:22389603_22389604GTC>G	uc003gqm.1	-	18	3955_3956	c.3690_3691GAC>C	c.(3688-3693)agacagfs	p.R1230fs	GPR125_uc010ieo.1_Frame_Shift_Del_p.R1086fs|GPR125_uc003gql.1_Frame_Shift_Del_p.R357fs	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	1230					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GGGTTGTACTGTCTCTCTCTGT	0.485													-	22389605	TC	-	22389604	7	5	48	1	0	1	0	1	0	0	0	0	6639	1664	58	0	279	0	GPR125	4	22389604	Frame_Shift_Del	DEL	TC	TCGA-BR-7703-01A-11D-2053-08	6820530	22389604	168764672	185	38202											
TBC1D1	23216	broad.mit.edu	37	chr4	38097694	38097694	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttgacatggaaaaaatgcActcggctgttgggcaaggta	13	6	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:38097694A>G	uc003gtb.2	+	14	2724	c.2381A>G	c.(2380-2382)CAC>CGC	p.H794R	TBC1D1_uc011byd.1_Missense_Mutation_p.H888R|TBC1D1_uc010ifd.2_Missense_Mutation_p.H581R	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	794						nucleus	Rab GTPase activator activity			ovary(1)	1						GAAAAAATGCACTCGGCTGTT	0.408													G	38097694	A	G	38097694	3	3	48	1	0	0	0	0	1	0	0	0	15594	159	6	3	2431	3	TBC1D1	4	38097694	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	15708090	38097694	153056582	186	38203											
EPHA5	2044	broad.mit.edu	37	chr4	66189927	66189927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaagagtcactccaagccGtctcaaatccctgcatgaag	8	13	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:66189927G>A	uc003hcy.2	-	18	3212	c.3019C>T	c.(3019-3021)CGG>TGG	p.R1007W	EPHA5_uc003hcx.2_Missense_Mutation_p.R939W|EPHA5_uc003hcz.2_Missense_Mutation_p.R985W|EPHA5_uc011cah.1_Missense_Mutation_p.R1008W|EPHA5_uc011cai.1_Missense_Mutation_p.R986W	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	1007	Cytoplasmic (Potential).|SAM.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.R1007Q(1)		lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						ACTCCAAGCCGTCTCAAATCC	0.438										TSP Lung(17;0.13)			A	66189927	G	A	66189927	3	1	48	1	0	0	0	0	1	0	0	0	5170	1144	40	1	98	1	EPHA5	4	66189927	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	28092233	66189927	124964349	187	38204											
NPFFR2	10886	broad.mit.edu	37	chr4	73012934	73012934	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagatctacaccactgtgcTgtttgccaacatctacctgg	8	12	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:73012934T>G	uc003hgg.2	+	4	1072	c.974T>G	c.(973-975)CTG>CGG	p.L325R	NPFFR2_uc010iig.1_Missense_Mutation_p.L107R|NPFFR2_uc003hgi.2_Missense_Mutation_p.L226R|NPFFR2_uc003hgh.2_Missense_Mutation_p.L223R|NPFFR2_uc003hgj.2_RNA	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	325	Helical; Name=5; (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ACCACTGTGCTGTTTGCCAAC	0.502													G	73012934	T	G	73012934	3	3	48	1	0	0	0	0	1	0	0	0	10578	1580	55	5	994	5	NPFFR2	4	73012934	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	6823007	73012934	118141342	188	38205											
USO1	8615	broad.mit.edu	37	chr4	76731599	76731599	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcaggcaaaatcagttgaGgtacaaggagagaccgagac	12	7	2	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:76731599G>T	uc003hiu.2	+	21	2665	c.2490G>T	c.(2488-2490)GAG>GAT	p.E830D	USO1_uc003hiv.2_Missense_Mutation_p.E672D|USO1_uc003hiw.2_Missense_Mutation_p.E665D	NM_003715	NP_003706	O60763	USO1_HUMAN	USO1 homolog, vesicle docking protein	830	Potential.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AATCAGTTGAGGTACAAGGAG	0.338													T	76731599	G	T	76731599	3	4	48	1	0	0	0	0	1	0	0	0	17036	991	35	5	2417	5	USO1	4	76731599	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	3718665	76731599	114422677	189	38206											
NAAA	27163	broad.mit.edu	37	chr4	76842262	76842262	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagctgcttcgaagttttcCgactcactcagggtctgaac	9	12	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:76842262C>T	uc003hjb.2	-	6	745	c.681G>A	c.(679-681)TCG>TCA	p.S227S	NAAA_uc003hja.2_Silent_p.S227S|NAAA_uc003hjc.3_Silent_p.S227S|NAAA_uc003hjd.3_RNA|NAAA_uc011cbq.1_Silent_p.S126S	NM_014435	NP_055250	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase isoform 1	227					lipid metabolic process	lysosome	hydrolase activity			skin(1)	1						CGAAGTTTTCCGACTCACTCA	0.517													T	76842262	C	T	76842262	2	4	48	1	0	0	0	0	0	0	0	1	10127	639	23	1		1	NAAA	4	76842262	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	110663	76842262	114312014	190	38207											
FRAS1	80144	broad.mit.edu	37	chr4	79328882	79328882	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgaagggcagcacctgcctGatgggaggacagctaccccc	13	13	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:79328882G>A	uc003hlb.2	+	31	4635	c.4195G>A	c.(4195-4197)GAT>AAT	p.D1399N	FRAS1_uc003hkw.2_Missense_Mutation_p.D1399N	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1398	CSPG 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						GCACCTGCCTGATGGGAGGAC	0.587													A	79328882	G	A	79328882	3	1	48	1	0	0	0	0	1	0	0	0	6042	1290	45	4	4317	4	FRAS1	4	79328882	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2486620	79328882	111825394	191	38208											
HNRPDL	9987	broad.mit.edu	37	chr4	83347709	83347709	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccactatagttttgatcacCaccataggcactattgtaat	6	10	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:83347709C>A	uc003hmr.2	-	6	1634	c.1099G>T	c.(1099-1101)GGT>TGT	p.G367C	HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Intron	NM_031372	NP_112740	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	367	Tyr-rich.|Necessary for interaction with TNPO1.|Gly-rich.				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			skin(1)	1		Hepatocellular(203;0.114)				TTTTGATCACCACCATAGGCA	0.383													A	83347709	C	A	83347709	3	1	48	1	0	0	0	0	1	0	0	0	7276	594	21	5	171	5	HNRPDL	4	83347709	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	4018827	83347709	107806567	192	38209											
ARHGAP24	83478	broad.mit.edu	37	chr4	86915861	86915861	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaacaatgaaattcagaagAaagccaccatggggcagtta	9	8	1	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:86915861A>G	uc003hpk.2	+	9	1503	c.1054A>G	c.(1054-1056)AAA>GAA	p.K352E	ARHGAP24_uc003hpl.2_Missense_Mutation_p.K257E|ARHGAP24_uc010ikf.2_Missense_Mutation_p.K267E|ARHGAP24_uc003hpm.2_Missense_Mutation_p.K259E	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	352					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AATTCAGAAGAAAGCCACCAT	0.473													G	86915861	A	G	86915861	3	3	48	1	0	0	0	0	1	0	0	0	873	247	9	3	1200	3	ARHGAP24	4	86915861	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	3568152	86915861	104238415	193	38210											
IBSP	3381	broad.mit.edu	37	chr4	88733020	88733020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctactttaaaggacaaggCtacgatggctatgatggtca	11	7	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:88733020C>T	uc003hqx.3	+	7	1010	c.912C>T	c.(910-912)GGC>GGT	p.G304G		NM_004967	NP_004958	P21815	SIAL_HUMAN	integrin-binding sialoprotein precursor	304					biomineral tissue development|cell adhesion|ossification						0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		AAGGACAAGGCTACGATGGCT	0.463													T	88733020	C	T	88733020	2	4	48	1	0	0	0	0	0	0	0	1	7475	784	28	2		2	IBSP	4	88733020	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1817159	88733020	102421256	194	38211											
ABCG2	9429	broad.mit.edu	37	chr4	89052271	89052272	+	Frame_Shift_Ins	INS	-	-	T													gaccctgttaatccgttcgtINSttttttcatgattcgtcata					rs150450599	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:89052270_89052271G>GT	uc003hrg.3	-	4	966_967	c.473_474C>AC	c.(472-474)aacfs	p.N158fs	ABCG2_uc003hrh.3_Frame_Shift_Ins_p.N158fs|ABCG2_uc003hrf.3_Frame_Shift_Ins_p.N28fs	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	158	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TAATCCGTTCGTTTTTTTCATG	0.426													T	89052272	-	T	89052271	7	5	48	1	0	1	1	0	0	0	0	0	69	1725	60	0	1542	0	ABCG2	4	89052271	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	319251	89052271	102102005	195	38212											
CXXC4	80319	broad.mit.edu	37	chr4	105412446	105412446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctgggagtcgtttcggtGgtgcatgctggtcctgctgc	15	11	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:105412446G>A	uc003hxg.2	-	1	22	c.7C>T	c.(7-9)CAC>TAC	p.H3Y	uc003hxh.1_Intron|CXXC4_uc010ilo.2_Intron	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN	CXXC finger 4	3					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TCGTTTCGGTGGTGCATGCTG	0.383													A	105412446	G	A	105412446	3	1	48	1	0	0	0	0	1	0	0	0	4098	1348	47	4	597	4	CXXC4	4	105412446	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	16360175	105412446	85741830	196	38213											
COL25A1	84570	broad.mit.edu	37	chr4	110223177	110223177	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcttcttcagcagcatcGtggcggggtcggccgtctcg	15	13	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:110223177G>A	uc003hze.1	-	2	530	c.-1C>T	c.(-3-1)CACGA>CATGA		COL25A1_uc003hzg.2_Translation_Start_Site|COL25A1_uc003hzh.1_Translation_Start_Site	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1							collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CAGCAGCATCGTGGCGGGGTC	0.602													A	110223177	G	A	110223177	1	1	48	1	0	0	0	0	0	0	0	0	3684	1160	40	1		1	COL25A1	4	110223177	Translation_Start_Site	SNP	G	TCGA-BR-7703-01A-11D-2053-08	4810731	110223177	80931099	197	38214											
FAT4	79633	broad.mit.edu	37	chr4	126370366	126370366	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagaagcgttagacctttggAcagggaaaaagtatctcatt	10	6	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:126370366A>G	uc003ifj.3	+	9	8195	c.8195A>G	c.(8194-8196)GAC>GGC	p.D2732G	FAT4_uc011cgp.1_Missense_Mutation_p.D1030G|FAT4_uc003ifi.1_Missense_Mutation_p.D210G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2732	Cadherin 26.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AGACCTTTGGACAGGGAAAAA	0.358													G	126370366	A	G	126370366	3	3	48	1	0	0	0	0	1	0	0	0	5692	275	10	3	8229	3	FAT4	4	126370366	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	16147189	126370366	64783910	198	38215											
FAT4	79633	broad.mit.edu	37	chr4	126412392	126412392	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgccctagaaacccaagtatCtgcagtgcagaccatgggag	11	12	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:126412392C>A	uc003ifj.3	+	17	14415	c.14415C>A	c.(14413-14415)ATC>ATA	p.I4805I	FAT4_uc011cgp.1_Silent_p.I3046I|FAT4_uc003ifi.1_Silent_p.I2282I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4805	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ACCCAAGTATCTGCAGTGCAG	0.522													A	126412392	C	A	126412392	2	1	48	1	0	0	0	0	0	0	0	1	5692	903	32	5		5	FAT4	4	126412392	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	42026	126412392	64741884	199	38216											
PCDH10	57575	broad.mit.edu	37	chr4	134071731	134071731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcttccccttggagagcGcattcgacccagacgtgggc	12	15	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:134071731G>A	uc003iha.2	+	1	1262	c.436G>A	c.(436-438)GCA>ACA	p.A146T	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.A146T	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	146	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CTTGGAGAGCGCATTCGACCC	0.617													A	134071731	G	A	134071731	3	1	48	1	0	0	0	0	1	0	0	0	11507	1087	38	1	438	1	PCDH10	4	134071731	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	7659339	134071731	57082545	200	38217											
USP38	84640	broad.mit.edu	37	chr4	144135593	144135594	+	Frame_Shift_Ins	INS	-	-	A													tcttagtgagaaccttgctaINSaaaaattaaagccttcaggg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:144135592_144135593T>TA	uc003ijb.3	+	8	2997_2998	c.2463_2464T>TA	c.(2461-2466)gctaaafs	p.A821fs	USP38_uc003ija.4_Frame_Shift_Ins_p.A821fs|USP38_uc003ijc.3_Non-coding_Transcript	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	Homo sapiens ubiquitin specific peptidase 38 (USP38), mRNA.	821					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					AGAACCTTGCTAAAAAATTAAA	0.391													A	144135594	-	A	144135593	7	5	48	1	0	1	1	0	0	0	0	0	17066	363	13	0	2498	0	USP38	4	144135593	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	10063862	144135593	47018683	201	38218											
GAB1	2549	broad.mit.edu	37	chr4	144359520	144359520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taatacttatcagattccacGaacatttccagaaggaacct	5	10	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:144359520G>A	uc003ije.2	+	4	1321	c.962G>A	c.(961-963)CGA>CAA	p.R321Q	GAB1_uc003ijd.2_Missense_Mutation_p.R321Q|GAB1_uc011chq.1_Missense_Mutation_p.R218Q	NM_002039	NP_002030	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1 isoform b	321					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(2)|lung(1)|skin(1)	4	all_hematologic(180;0.158)					CAGATTCCACGAACATTTCCA	0.453													A	144359520	G	A	144359520	3	1	48	1	0	0	0	0	1	0	0	0	6148	1058	37	1	976	1	GAB1	4	144359520	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	223927	144359520	46794756	202	38219											
LRBA	987	broad.mit.edu	37	chr4	151408925	151408925	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgttccaacgccaacacgAggtagatagttaaccacttt	7	11	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:151408925A>C	uc010ipj.2	-	43	7017	c.6543T>G	c.(6541-6543)CCT>CCG	p.P2181P	LRBA_uc003ils.3_Silent_p.P71P|LRBA_uc003ilt.3_Silent_p.P829P|LRBA_uc003ilu.3_Silent_p.P2170P	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2181						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					CGCCAACACGAGGTAGATAGT	0.343													C	151408925	A	C	151408925	2	2	48	1	0	0	0	0	0	0	0	1	8931	291	11	5		5	LRBA	4	151408925	Silent	SNP	A	TCGA-BR-7703-01A-11D-2053-08	7049405	151408925	39745351	203	38220											
ETFDH	2110	broad.mit.edu	37	chr4	159624651	159624651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgaatgttcccaagatcaAaggtactcacacagcaatga	7	9	2	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:159624651A>G	uc003iqb.2	+	10	1525	c.1193A>G	c.(1192-1194)AAA>AGA	p.K398R	ETFDH_uc011cjg.1_Missense_Mutation_p.K351R|ETFDH_uc010iqr.2_5'UTR|ETFDH_uc011cjh.1_Missense_Mutation_p.K337R|ETFDH_uc010iqs.2_Missense_Mutation_p.K320R	NM_004453	NP_004444	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	398					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			large_intestine(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		CCCAAGATCAAAGGTACTCAC	0.343													G	159624651	A	G	159624651	3	3	48	1	0	0	0	0	1	0	0	0	5271	14	1	3	1231	3	ETFDH	4	159624651	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	8215726	159624651	31529625	204	38221											
NPY5R	4889	broad.mit.edu	37	chr4	164272323	164272323	+	Missense_Mutation	SNP	C	C	A													cagcatgtgtgttacctgctCcagaaagaccttctcaagag					rs74555158		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:164272323C>A	uc003iqn.2	+	4	1080	c.898C>A	c.(898-900)CCA>ACA	p.P300T		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	300	Cytoplasmic (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				lung(6)|skin(1)	7	all_hematologic(180;0.166)	Prostate(90;0.109)				GTTACCTGCTCCAGAAAGACC	0.428													A	164272323	C	A	164272323	3	1	48	1	0	0	0	0	1	0	0	0	10610	855	30	5	900	5	NPY5R	4	164272323	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	4647672	164272323	26881953	205	38222	122	2									
NPY5R	4889	broad.mit.edu	37	chr4	164272327	164272327	+	Missense_Mutation	SNP	A	A	G													atgtgtgttacctgctccagAaagaccttctcaagagaacc							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:164272327A>G	uc003iqn.2	+	4	1084	c.902A>G	c.(901-903)GAA>GGA	p.E301G		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	301	Cytoplasmic (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				lung(6)|skin(1)	7	all_hematologic(180;0.166)	Prostate(90;0.109)				CCTGCTCCAGAAAGACCTTCT	0.433													G	164272327	A	G	164272327	3	3	48	1	0	0	0	0	1	0	0	0	10610	246	9	3	904	3	NPY5R	4	164272327	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	4	164272327	26881949	206	38223	122	2									
TKTL2	84076	broad.mit.edu	37	chr4	164394544	164394544	+	Frame_Shift_Del	DEL	G	G	-													cacgtcaacaaacggcaatcGgggggtagggtgtctctcca							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:164394543_164394543CG>C	uc003iqp.4	-	0	505	c.344_344CG>G	c.(343-345)cgafs	p.R115fs		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	115						cytoplasm	metal ion binding|transketolase activity	p.P114H(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAACGGCAATCGGGGGGTAGG	0.527													-	164394544	G	-	164394544	7	5	48	1	0	1	0	1	0	0	0	0	15933	1124	39	0	1541	0	TKTL2	4	164394544	Frame_Shift_Del	DEL	G	TCGA-BR-7703-01A-11D-2053-08	122217	164394544	26759732	207	38224											
SH3RF1	57630	broad.mit.edu	37	chr4	170057513	170057513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagacagctcgctgatccGtgcagcagcagtggggttgc	14	13	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:170057513G>A	uc003isa.1	-	5	1359	c.1024C>T	c.(1024-1026)CGG>TGG	p.R342W	SH3RF1_uc010irc.1_Missense_Mutation_p.T64M	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	342						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCGCTGATCCGTGCAGCAGCA	0.542													A	170057513	G	A	170057513	3	1	48	1	0	0	0	0	1	0	0	0	14258	1144	40	1	1674	1	SH3RF1	4	170057513	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	5662969	170057513	21096763	208	38225											
AHRR	57491	broad.mit.edu	37	chr5	433983	433983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagggacagggaggaggaGcagcacaggatgctgagcag	19	7	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:433983G>A	uc003jav.2	+	12	1238	c.1194G>A	c.(1192-1194)GAG>GAA	p.E398E	AHRR_uc003jaw.2_Silent_p.E376E|AHRR_uc010isy.2_Silent_p.E226E|AHRR_uc010isz.2_Silent_p.E376E|AHRR_uc003jax.2_Silent_p.E139E|AHRR_uc003jay.2_Silent_p.E236E|AHRR_uc003jaz.2_5'UTR	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GGGAGGAGGAGCAGCACAGGA	0.632													A	433983	G	A	433983	2	1	48	1	0	0	0	0	0	0	0	1	417	962	34	2		2	AHRR	5	433983	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08		433983	180481277	209	38226											
LPCAT1	79888	broad.mit.edu	37	chr5	1501615	1501615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctcgggttccttctccGcagagcccagggatgcgaca	13	14	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:1501615G>A	uc003jcm.2	-	2	356	c.239C>T	c.(238-240)GCG>GTG	p.A80V		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	80	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TTCCTTCTCCGCAGAGCCCAG	0.677													A	1501615	G	A	1501615	3	1	48	1	0	0	0	0	1	0	0	0	8910	1087	38	1	1417	1	LPCAT1	5	1501615	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1067632	1501615	179413645	210	38227											
IRX1	79192	broad.mit.edu	37	chr5	3600194	3600194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccaactggaccaacagcGcattcctcgcacagggctcc	8	17	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:3600194G>A	uc003jde.2	+	2	1184	c.1132G>A	c.(1132-1134)GCA>ACA	p.A378T		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	378						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						GACCAACAGCGCATTCCTCGC	0.577													A	3600194	G	A	3600194	3	1	48	1	0	0	0	0	1	0	0	0	7843	1087	38	1	1138	1	IRX1	5	3600194	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2098579	3600194	177315066	211	38228											
TRIO	7204	broad.mit.edu	37	chr5	14485239	14485239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtaaatttgctctgacatCgaggacgggtgacgtggtag	14	7	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:14485239C>T	uc003jff.2	+	47	6725	c.6719C>T	c.(6718-6720)TCG>TTG	p.S2240L	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.S1889L	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2240	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GCTCTGACATCGAGGACGGGT	0.358													T	14485239	C	T	14485239	3	4	48	1	0	0	0	0	1	0	0	0	16549	893	31	1	6905	1	TRIO	5	14485239	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	10885045	14485239	166430021	212	38229											
TRIO	7204	broad.mit.edu	37	chr5	14504593	14504593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaagaagttgatgaagcgcGaccaggtcacccatgagctt	11	10	1	4			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:14504593G>A	uc003jff.2	+	55	8509	c.8503G>A	c.(8503-8505)GAC>AAC	p.D2835N	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2835	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GATGAAGCGCGACCAGGTCAC	0.532													A	14504593	G	A	14504593	3	1	48	1	0	0	0	0	1	0	0	0	16549	1058	37	1	8721	1	TRIO	5	14504593	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	19354	14504593	166410667	213	38230											
ADAMTS12	81792	broad.mit.edu	37	chr5	33881401	33881402	+	Frame_Shift_Ins	INS	-	-	A													cttgattgaccgtcaagttaINSaaaaacaggtccttctcctc							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:33881400_33881401T>TA	uc003jia.1	-	1	475_476	c.312_313A>TA	c.(310-315)tttaacfs	p.F104fs	ADAMTS12_uc010iuq.1_Frame_Shift_Ins_p.F104fs|ADAMTS12_uc003jib.1_Frame_Shift_Ins_p.F104fs	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	104					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACCGTCAAGTTAAAAAACAGGT	0.47										HNSCC(64;0.19)			A	33881402	-	A	33881401	7	5	48	1	0	1	1	0	0	0	0	0	257	359	13	0	4564	0	ADAMTS12	5	33881401	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	19376808	33881401	147033859	214	38231											
RXFP3	51289	broad.mit.edu	37	chr5	33937043	33937043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgccaggacatcccccGggcagcggcggggcagagag	18	15	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:33937043G>A	uc003jic.1	+	1	555	c.198G>A	c.(196-198)CCG>CCA	p.P66P		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	66	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						GACATCCCCCGGGCAGCGGCG	0.706													A	33937043	G	A	33937043	2	1	48	1	0	0	0	0	0	0	0	1	13761	1103	39	1		1	RXFP3	5	33937043	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	55642	33937043	146978217	215	38232											
FYB	2533	broad.mit.edu	37	chr5	39153610	39153610	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgggactggtggttgtgatGggtgagatgctggcaatggt	19	3	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:39153610G>T	uc003jls.2	-	2	1299	c.1232C>A	c.(1231-1233)CCA>CAA	p.P411Q	FYB_uc003jlt.2_Missense_Mutation_p.P411Q|FYB_uc003jlu.2_Missense_Mutation_p.P411Q|FYB_uc011cpl.1_Missense_Mutation_p.P421Q	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2	411	Interaction with SKAP1.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGTTGTGATGGGTGAGATGC	0.493													T	39153610	G	T	39153610	3	4	48	1	0	0	0	0	1	0	0	0	6124	1348	47	5	1325	5	FYB	5	39153610	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	5216567	39153610	141761650	216	38233											
DAB2	1601	broad.mit.edu	37	chr5	39377057	39377057	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaggagagaggagtgcAtggatgggggctgagtggac	20	5	0	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:39377057A>G	uc003jlx.2	-	12	2363	c.1832T>C	c.(1831-1833)ATG>ACG	p.M611T	DAB2_uc003jlw.2_Missense_Mutation_p.M590T	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	611					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			AGAGGAGTGCATGGATGGGGG	0.557											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	39377057	A	G	39377057	3	3	48	1	0	0	0	0	1	0	0	0	4218	217	8	3	492	3	DAB2	5	39377057	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	223447	39377057	141538203	217	38234											
NNT	23530	broad.mit.edu	37	chr5	43659360	43659360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaggctgggccctgtgtGcagagggcttcctgctcaac	13	13	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:43659360G>A	uc003joe.2	+	17	2797	c.2542G>A	c.(2542-2544)GCA>ACA	p.A848T	NNT_uc003jof.2_Missense_Mutation_p.A848T	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	848	Helical; (Potential).				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	GGCCCTGTGTGCAGAGGGCTT	0.517													A	43659360	G	A	43659360	3	1	48	1	0	0	0	0	1	0	0	0	10510	1319	46	2	2604	2	NNT	5	43659360	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	4282303	43659360	137255900	218	38235											
HTR1A	3350	broad.mit.edu	37	chr5	63257457	63257457	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttggtagctgacggtcacGtcggagataccagtagtgtt	13	8	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:63257457G>A	uc011cqt.1	-	1	90	c.90C>T	c.(88-90)GAC>GAT	p.D30D		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	30	Extracellular (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGACGGTCACGTCGGAGATAC	0.627													A	63257457	G	A	63257457	2	1	48	1	0	0	0	0	0	0	0	1	7436	1136	40	1		1	HTR1A	5	63257457	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	19598097	63257457	117657803	219	38236											
CCNB1	891	broad.mit.edu	37	chr5	68470196	68470196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcaggttgttgcaggagaCcatgtacatgactgtctcca	10	9	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:68470196C>T	uc003jvm.2	+	5	842	c.665C>T	c.(664-666)ACC>ATC	p.T222I	CCNB1_uc011crd.1_Missense_Mutation_p.T222I|CCNB1_uc010ixb.2_Missense_Mutation_p.T222I	NM_031966	NP_114172	P14635	CCNB1_HUMAN	cyclin B1	222					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole					0		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTGCAGGAGACCATGTACATG	0.438													T	68470196	C	T	68470196	3	4	48	1	0	0	0	0	1	0	0	0	2911	507	18	4	683	4	CCNB1	5	68470196	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	5212739	68470196	112445064	220	38237											
ANKRA2	57763	broad.mit.edu	37	chr5	72857049	72857049	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagaaatgctttgttgtAgagggggtgtagacatgcct	16	4	0	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:72857049A>G	uc003kcu.1	-	3	1000	c.354T>C	c.(352-354)TCT>TCC	p.S118S	ANKRA2_uc003kcv.2_Silent_p.S118S	NM_023039	NP_075526	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	118						cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding				0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		GCTTTGTTGTAGAGGGGGTGT	0.388													G	72857049	A	G	72857049	2	3	48	1	0	0	0	0	0	0	0	1	636	407	15	3		3	ANKRA2	5	72857049	Silent	SNP	A	TCGA-BR-7703-01A-11D-2053-08	4386853	72857049	108058211	221	38238											
DMGDH	29958	broad.mit.edu	37	chr5	78328527	78328527	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgtactgagtgtcctgGcctggtttgtagaaccagtg	12	10	0	2	rs112410293		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:78328527G>A	uc003kfs.2	-	9	1506	c.1500C>T	c.(1498-1500)GGC>GGT	p.G500G	DMGDH_uc011cte.1_Silent_p.G350G|DMGDH_uc011ctf.1_Silent_p.G299G|DMGDH_uc011ctg.1_Silent_p.G120G	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	500					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GAGTGTCCTGGCCTGGTTTGT	0.547													A	78328527	G	A	78328527	2	1	48	1	0	0	0	0	0	0	0	1	4581	1190	42	2		2	DMGDH	5	78328527	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	5471478	78328527	102586733	222	38239											
HOMER1	9456	broad.mit.edu	37	chr5	78693429	78693429	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatgagtatgtactgcatttGcttggctactaacacattca	7	8	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:78693429G>T	uc003kfy.2	-	7	1819	c.716C>A	c.(715-717)GCA>GAA	p.A239E	HOMER1_uc010jab.2_Intron|HOMER1_uc010jac.2_Missense_Mutation_p.A109E|HOMER1_uc010jad.2_Missense_Mutation_p.A65E	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	homer 1	239	Potential.				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane					0		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		TACTGCATTTGCTTGGCTACT	0.328													T	78693429	G	T	78693429	3	4	48	1	0	0	0	0	1	0	0	0	7278	1319	46	5	360	5	HOMER1	5	78693429	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	364902	78693429	102221831	223	38240											
VCAN	1462	broad.mit.edu	37	chr5	82835533	82835533	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaagtacaaaacattttccGaaaggcatgagaccaacaat	7	8	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:82835533G>A	uc003kii.3	+	8	7067	c.6711G>A	c.(6709-6711)CCG>CCA	p.P2237P	VCAN_uc003kij.3_Silent_p.P1250P|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.P901P	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2237	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AACATTTTCCGAAAGGCATGA	0.383													A	82835533	G	A	82835533	2	1	48	1	0	0	0	0	0	0	0	1	17135	1045	37	1		1	VCAN	5	82835533	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	4142104	82835533	98079727	224	38241											
CCNH	902	broad.mit.edu	37	chr5	86695286	86695286	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaacagcaacttcttcagatCtgggtggttcatacttcttt	8	9	5	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:86695286C>T	uc003kjb.2	-	7	1029	c.797G>A	c.(796-798)AGA>AAA	p.R266K	CCNH_uc003kiy.1_RNA|CCNH_uc003kiz.1_Missense_Mutation_p.R213K|CCNH_uc003kja.2_Missense_Mutation_p.R213K	NM_001239	NP_001230	P51946	CCNH_HUMAN	cyclin H	266					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			ovary(2)|kidney(1)	3		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		TTCTTCAGATCTGGGTGGTTC	0.383								Direct_reversal_of_damage|NER					T	86695286	C	T	86695286	3	4	48	1	0	0	0	0	1	0	0	0	2925	913	32	4	186	4	CCNH	5	86695286	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	3859753	86695286	94219974	225	38242											
CAMK4	814	broad.mit.edu	37	chr5	110809009	110809009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattttcactttttctgcagCacctgaaattcttagaggtt	6	8	3	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:110809009C>T	uc011cvj.1	+	9	725	c.626C>T	c.(625-627)GCA>GTA	p.A209V	CAMK4_uc003kpf.2_Missense_Mutation_p.A209V|CAMK4_uc010jbv.2_Missense_Mutation_p.A12V	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	209	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTTTCTGCAGCACCTGAAATT	0.318													T	110809009	C	T	110809009	3	4	48	1	0	0	0	0	1	0	0	0	2605	724	25	2	656	2	CAMK4	5	110809009	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	24113723	110809009	70106251	226	38243											
APC	324	broad.mit.edu	37	chr5	112162834	112162834	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccattgcagaattattgCaagtggactgtgaaatgtat	11	5	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:112162834C>T	uc010jby.2	+	12	1818	c.1438C>T	c.(1438-1440)CAA>TAA	p.Q480*	APC_uc011cvt.1_Nonsense_Mutation_p.Q462*|APC_uc003kpz.3_Nonsense_Mutation_p.Q480*|APC_uc003kpy.3_Nonsense_Mutation_p.Q480*|APC_uc010jbz.2_Nonsense_Mutation_p.Q197*|APC_uc010jca.2_Intron	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	480	Leu-rich.|ARM 1.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGAATTATTGCAAGTGGACTG	0.378		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			T	112162834	C	T	112162834	4	4	48	1	0	0	0	0	0	1	0	0	763	711	25	2	1480	2	APC	5	112162834	Nonsense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1353825	112162834	68752426	227	38244											
APC	324	broad.mit.edu	37	chr5	112164566	112164566	+	Frame_Shift_Del	DEL	T	T	-													tttgcaggttattgcgagtgTtttgaggaatttgtcttggc							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:112164565_112164565GT>G	uc003kpz.4	+	14	1832	c.1639_1639GT>G	c.(1639-1641)gttfs	p.V547fs	APC_uc011cvt.2_Frame_Shift_Del_p.V529fs|APC_uc003kpy.4_Frame_Shift_Del_p.V547fs|APC_uc010jbz.3_Frame_Shift_Del_p.V264fs|APC_uc010jca.3_Intron	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	547	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TATTGCGAGTGTTTTGAGGAA	0.308		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			-	112164566	T	-	112164566	7	5	48	1	0	1	0	1	0	0	0	0	763	1725	60	0	1690	0	APC	5	112164566	Frame_Shift_Del	DEL	T	TCGA-BR-7703-01A-11D-2053-08	1732	112164566	68750694	228	38245											
PGGT1B	5229	broad.mit.edu	37	chr5	114588851	114588851	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgtcttctgtgggaaggAcctgcagggaataaatccac	11	10	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:114588851A>G	uc003kqw.3	-	2	263	c.242T>C	c.(241-243)GTC>GCC	p.V81A	PGGT1B_uc003kqx.3_5'UTR|PGGT1B_uc010jch.2_Missense_Mutation_p.V81A	NM_005023	NP_005014	P53609	PGTB1_HUMAN	geranylgeranyltransferase type 1 beta	81					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity				0		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	TGTGGGAAGGACCTGCAGGGA	0.294													G	114588851	A	G	114588851	3	3	48	1	0	0	0	0	1	0	0	0	11789	275	10	3	923	3	PGGT1B	5	114588851	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	2424285	114588851	66326409	229	38246											
ADAMTS19	171019	broad.mit.edu	37	chr5	128984551	128984551	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caatacagaatatgtgagaaTccaccttgtcctgcaggttt	8	9	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:128984551T>A	uc003kvb.1	+	13	2046	c.2046T>A	c.(2044-2046)AAT>AAA	p.N682K	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	682	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TATGTGAGAATCCACCTTGTC	0.393													A	128984551	T	A	128984551	3	1	48	1	0	0	0	0	1	0	0	0	264	1432	50	5	2096	5	ADAMTS19	5	128984551	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	14395700	128984551	51930709	230	38247											
CHSY3	337876	broad.mit.edu	37	chr5	129243994	129243994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacacgactcatgaggatGtggaagtaggaagatgcgtt	14	5	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:129243994G>A	uc003kvd.2	+	2	1027	c.1027G>A	c.(1027-1029)GTG>ATG	p.V343M		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	343	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TCATGAGGATGTGGAAGTAGG	0.468													A	129243994	G	A	129243994	3	1	48	1	0	0	0	0	1	0	0	0	3413	1377	48	4	1033	4	CHSY3	5	129243994	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	259443	129243994	51671266	231	38248											
P4HA2	8974	broad.mit.edu	37	chr5	131539797	131539797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggaaacccggtagctggCgacagtgaggactcctgtct	13	10	1	1	rs147398523	by1000genomes	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:131539797C>T	uc003kwh.2	-	9	1693	c.1129G>A	c.(1129-1131)GCC>ACC	p.A377T	P4HA2_uc003kwg.2_Missense_Mutation_p.A377T|P4HA2_uc003kwi.2_Missense_Mutation_p.A377T|P4HA2_uc003kwk.2_Missense_Mutation_p.A377T|P4HA2_uc003kwl.2_Missense_Mutation_p.A377T|P4HA2_uc003kwj.2_Missense_Mutation_p.A377T	NM_004199	NP_004190	O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha II subunit isoform 1	377						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding				0		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CGGTAGCTGGCGACAGTGAGG	0.527													T	131539797	C	T	131539797	3	4	48	1	0	0	0	0	1	0	0	0	11357	768	27	1	570	1	P4HA2	5	131539797	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2295803	131539797	49375463	232	38249											
TIFAB	497189	broad.mit.edu	37	chr5	134785283	134785283	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagggatgtgccttcttctAcgcgaaccagcatctggatg	11	12	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:134785283A>G	uc003law.3	-	2	548	c.347T>C	c.(346-348)GTA>GCA	p.V116A	C5orf20_uc003lav.2_5'Flank	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	TIFA-related protein TIFAB	116											0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCTTCTTCTACGCGAACCAG	0.552													G	134785283	A	G	134785283	3	3	48	1	0	0	0	0	1	0	0	0	15892	391	14	3	142	3	TIFAB	5	134785283	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	3245486	134785283	46129977	233	38250											
PCDHA10	56139	broad.mit.edu	37	chr5	140237829	140237829	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgagggcgcatgtgggccGgtgaagcccacgctggtgtg	18	11	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:140237829G>A	uc003lhx.2	+	1	2196	c.2196G>A	c.(2194-2196)CCG>CCA	p.P732P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Silent_p.P732P	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	732	PXXP 1.|6 X 4 AA repeats of P-X-X-P.|Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATGTGGGCCGGTGAAGCCCA	0.682													A	140237829	G	A	140237829	2	1	48	1	0	0	0	0	0	0	0	1	11520	1103	39	1		1	PCDHA10	5	140237829	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	5452546	140237829	40677431	234	38251											
PCDHA11	56138	broad.mit.edu	37	chr5	140248933	140248933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtaaatctgcagaatgGcattttgtttgtgaattctc	11	5	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:140248933G>A	uc003lia.2	+	1	1103	c.245G>A	c.(244-246)GGC>GAC	p.G82D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.G82D	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	82	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGAATGGCATTTTGTTT	0.622													A	140248933	G	A	140248933	3	1	48	1	0	0	0	0	1	0	0	0	11521	1203	42	2	247	2	PCDHA11	5	140248933	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	11104	140248933	40666327	235	38252											
PCDHGB7	56099	broad.mit.edu	37	chr5	140799030	140799030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagctcacgctgcaggcccGcgaccagggctcgcccgcgc	14	19	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:140799030G>A	uc003lkn.1	+	1	1749	c.1604G>A	c.(1603-1605)CGC>CAC	p.R535H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.R535H|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	535	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGGCCCGCGACCAGGGC	0.701													A	140799030	G	A	140799030	3	1	48	1	0	0	0	0	1	0	0	0	11568	1087	38	1	1606	1	PCDHGB7	5	140799030	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	550097	140799030	40116230	236	38253											
PCDH1	5097	broad.mit.edu	37	chr5	141243291	141243291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcacaagaaccgccagggCgatgagcaaggccacggcca	14	14	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:141243291C>T	uc003llq.2	-	3	2722	c.2605G>A	c.(2605-2607)GCC>ACC	p.A869T	PCDH1_uc003llp.2_Missense_Mutation_p.A869T|PCDH1_uc011dbf.1_Missense_Mutation_p.A847T	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	869	Helical; (Potential).				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ACCGCCAGGGCGATGAGCAAG	0.577													T	141243291	C	T	141243291	3	4	48	1	0	0	0	0	1	0	0	0	11506	768	27	1	1204	1	PCDH1	5	141243291	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	444261	141243291	39671969	237	38254											
TCERG1	10915	broad.mit.edu	37	chr5	145878172	145878172	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caattgaaaagatgaaagacCgagaagccttgtttaatgag	10	5	0	6			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:145878172C>A	uc003lob.2	+	16	2345	c.2305C>A	c.(2305-2307)CGA>AGA	p.R769R	TCERG1_uc003loc.2_Silent_p.R748R	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	769	FF 2.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGAAAGACCGAGAAGCCTT	0.393													A	145878172	C	A	145878172	2	1	48	1	0	0	0	0	0	0	0	1	15682	644	23	5		5	TCERG1	5	145878172	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	4634881	145878172	35037088	238	38255											
GPR151	134391	broad.mit.edu	37	chr5	145895064	145895064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgccaggagtgggtagaGcttaccaaacatcgacataa	10	8	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:145895064G>A	uc003lod.1	-	1	613	c.613C>T	c.(613-615)CTC>TTC	p.L205F		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	205	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTGGGTAGAGCTTACCAAAC	0.433													A	145895064	G	A	145895064	3	1	48	1	0	0	0	0	1	0	0	0	6657	971	34	2	650	2	GPR151	5	145895064	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	16892	145895064	35020196	239	38256											
PDE6A	5145	broad.mit.edu	37	chr5	149274815	149274815	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggtaggtgatcttgcgGtagcccttactcagggagta	14	7	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:149274815G>A	uc003lrg.3	-	13	1779	c.1659C>T	c.(1657-1659)TAC>TAT	p.Y553Y		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A	553					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGATCTTGCGGTAGCCCTTAC	0.592													A	149274815	G	A	149274815	2	1	48	1	0	0	0	0	0	0	0	1	11645	1256	44	4		4	PDE6A	5	149274815	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	3379751	149274815	31640445	240	38257											
SLC6A7	6534	broad.mit.edu	37	chr5	149581986	149581986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcctcacctttgcctcctAcaacacgtttcaccagaaca	4	17	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:149581986A>G	uc003lrr.2	+	7	1306	c.935A>G	c.(934-936)TAC>TGC	p.Y312C		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	312	Helical; Name=6; (Potential).					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TTTGCCTCCTACAACACGTTT	0.587													G	149581986	A	G	149581986	3	3	48	1	0	0	0	0	1	0	0	0	14689	391	14	3	961	3	SLC6A7	5	149581986	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	307171	149581986	31333274	241	38258											
FAT2	2196	broad.mit.edu	37	chr5	150892047	150892047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccatcaggcgaatggaagCgtccatctcctccaccagga	9	14	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:150892047C>T	uc003lue.3	-	20	11597	c.11584G>A	c.(11584-11586)GCT>ACT	p.A3862T	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3862	Extracellular (Potential).|Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGAATGGAAGCGTCCATCTCC	0.582													T	150892047	C	T	150892047	3	4	48	1	0	0	0	0	1	0	0	0	5690	768	27	1	1481	1	FAT2	5	150892047	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1310061	150892047	30023213	242	38259											
FAT2	2196	broad.mit.edu	37	chr5	150948063	150948063	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggagagaagagaggcttcaGgtcattctggtccaggatgt	15	6	3	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:150948063G>T	uc003lue.3	-	1	443	c.430C>A	c.(430-432)CTG>ATG	p.L144M	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.L144M	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	144	Extracellular (Potential).|Cadherin 1.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAGGCTTCAGGTCATTCTGG	0.547													T	150948063	G	T	150948063	3	4	48	1	0	0	0	0	1	0	0	0	5690	991	35	5	12711	5	FAT2	5	150948063	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	56016	150948063	29967197	243	38260											
MAT2B	27430	broad.mit.edu	37	chr5	162945228	162945228	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccctgtcctaggagcacaAcgtccgagaaatgctcagct	10	13	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:162945228A>G	uc003lzk.2	+	7	972	c.864A>G	c.(862-864)CAA>CAG	p.Q288Q	MAT2B_uc003lzj.2_Silent_p.Q277Q|MAT2B_uc003lzl.1_3'UTR|MAT2B_uc003lzm.2_Silent_p.Q28Q	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta isoform	288					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding			upper_aerodigestive_tract(1)	1	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TAGGAGCACAACGTCCGAGAA	0.423													G	162945228	A	G	162945228	2	3	48	1	0	0	0	0	0	0	0	1	9331	40	2	3		3	MAT2B	5	162945228	Silent	SNP	A	TCGA-BR-7703-01A-11D-2053-08	11997165	162945228	17970032	244	38261											
ODZ2	57451	broad.mit.edu	37	chr5	167673928	167673928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgcctgaaagcaatgcttCggtcatctttgactacagtg	9	12	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:167673928C>T	uc010jjd.2	+	27	5957	c.5957C>T	c.(5956-5958)TCG>TTG	p.S1986L	ODZ2_uc003lzr.3_Missense_Mutation_p.S1756L|ODZ2_uc003lzt.3_Missense_Mutation_p.S1359L|ODZ2_uc010jje.2_Missense_Mutation_p.S1250L	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AGCAATGCTTCGGTCATCTTT	0.537													T	167673928	C	T	167673928	3	4	48	1	0	0	0	0	1	0	0	0	10835	893	31	1	6063	1	ODZ2	5	167673928	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	4728700	167673928	13241332	245	38262											
RARS	5917	broad.mit.edu	37	chr5	167937620	167937620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgttcgggtgaaacagtgCgcctcatggatcttctggga	13	10	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:167937620C>T	uc003lzx.2	+	12	1422	c.1381C>T	c.(1381-1383)CGC>TGC	p.R461C	RARS_uc011deo.1_Missense_Mutation_p.R255C	NM_002887	NP_002878	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	461					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|skin(1)	3	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TGAAACAGTGCGCCTCATGGA	0.363													T	167937620	C	T	167937620	3	4	48	1	0	0	0	0	1	0	0	0	13058	768	27	1	1427	1	RARS	5	167937620	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	263692	167937620	12977640	246	38263											
DOCK2	1794	broad.mit.edu	37	chr5	169267846	169267846	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcaccatgggccgggatcAcattctgattgtgagtggat	12	9	3	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:169267846A>G	uc003maf.2	+	27	2869	c.2789A>G	c.(2788-2790)CAC>CGC	p.H930R	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.H422R	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	930					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCCGGGATCACATTCTGATT	0.463													G	169267846	A	G	169267846	3	3	48	1	0	0	0	0	1	0	0	0	4687	159	6	3	2895	3	DOCK2	5	169267846	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	1330226	169267846	11647414	247	38264											
GRK6	2870	broad.mit.edu	37	chr5	176861093	176861093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggacctgcaccgggagcGcatcgtgtacaggtggggag	19	9	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:176861093G>A	uc011dfz.1	+	9	1077	c.917G>A	c.(916-918)CGC>CAC	p.R306H	GRK6_uc003mgp.2_Missense_Mutation_p.R306H|GRK6_uc003mgq.2_Missense_Mutation_p.R306H|GRK6_uc003mgs.1_Missense_Mutation_p.R276H	NM_002082	NP_002073	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6 isoform B	306	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)|stomach(1)|breast(1)	3	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACCGGGAGCGCATCGTGTAC	0.687													A	176861093	G	A	176861093	3	1	48	1	0	0	0	0	1	0	0	0	6793	1087	38	1	951	1	GRK6	5	176861093	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	7593247	176861093	4054167	248	38265											
FLT4	2324	broad.mit.edu	37	chr5	180048836	180048836	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgtcggcttggcagctcaGgagcaccggctggccctcta	14	14	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:180048836G>T	uc003mma.3	-	13	1805	c.1726C>A	c.(1726-1728)CTG>ATG	p.L576M	FLT4_uc003mlz.3_Missense_Mutation_p.L576M|FLT4_uc003mmb.1_Missense_Mutation_p.L109M|FLT4_uc011dgy.1_Missense_Mutation_p.L576M	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	576	Ig-like C2-type 6.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGCAGCTCAGGAGCACCGGC	0.627									Congenital_Hereditary_Lymphedema				T	180048836	G	T	180048836	3	4	48	1	0	0	0	0	1	0	0	0	5944	991	35	5	2445	5	FLT4	5	180048836	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	3187743	180048836	866424	249	38266											
FLT4	2324	broad.mit.edu	37	chr5	180056346	180056346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggtcgtgctggctgaCgttgtggatggtcaggatgc	17	9	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:180056346C>T	uc003mma.3	-	7	977	c.898G>A	c.(898-900)GTC>ATC	p.V300I	FLT4_uc003mlz.3_Missense_Mutation_p.V300I|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.1_Missense_Mutation_p.V300I|FLT4_uc011dgz.1_Intron	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	300	Ig-like C2-type 3.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGCTGGCTGACGTTGTGGATG	0.622									Congenital_Hereditary_Lymphedema				T	180056346	C	T	180056346	3	4	48	1	0	0	0	0	1	0	0	0	5944	536	19	1	3297	1	FLT4	5	180056346	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	7510	180056346	858914	250	38267											
TRIM7	81786	broad.mit.edu	37	chr5	180630566	180630566	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcagctccttgctctccttCttttccgtggaccggaacac	8	15	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:180630566C>A	uc003mmz.1	-	2	664	c.597G>T	c.(595-597)AAG>AAT	p.K199N	TRIM7_uc003mmv.1_5'Flank|TRIM7_uc003mmw.1_5'UTR|TRIM7_uc003mmx.1_5'UTR|TRIM7_uc003mmy.1_5'UTR|TRIM7_uc003mna.2_Missense_Mutation_p.K199N	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	199	Potential.					cytoplasm|nucleus	zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TGCTCTCCTTCTTTTCCGTGG	0.577													A	180630566	C	A	180630566	3	1	48	1	0	0	0	0	1	0	0	0	16540	912	32	5	1082	5	TRIM7	5	180630566	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	574220	180630566	284694	251	38268											
PRPF4B	8899	broad.mit.edu	37	chr6	4056600	4056600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctttgcgattttgggtcgGcttcacatgttgcggataat	12	7	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:4056600G>A	uc003mvv.2	+	12	2603	c.2512G>A	c.(2512-2514)GCT>ACT	p.A838T	PRPF4B_uc003mvw.2_RNA|C6orf146_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	838	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TTTTGGGTCGGCTTCACATGT	0.343													A	4056600	G	A	4056600	3	1	48	1	0	0	0	0	1	0	0	0	12573	1203	42	2	2558	2	PRPF4B	6	4056600	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08		4056600	167058467	252	38269											
FARS2	10667	broad.mit.edu	37	chr6	5369396	5369396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccagctggaggccgtgcGgctcttctccaagcatgagg	13	14	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:5369396G>A	uc010jnv.1	+	2	929	c.593G>A	c.(592-594)CGG>CAG	p.R198Q	FARS2_uc003mwr.2_Missense_Mutation_p.R198Q|FARS2_uc003mws.1_Missense_Mutation_p.R198Q	NM_006567	NP_006558	O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2 precursor	198					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	GAGGCCGTGCGGCTCTTCTCC	0.517													A	5369396	G	A	5369396	3	1	48	1	0	0	0	0	1	0	0	0	5678	1116	39	1	595	1	FARS2	6	5369396	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1312796	5369396	165745671	253	38270											
TBC1D7	51256	broad.mit.edu	37	chr6	13316875	13316875	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgggtgatccagtaacagtcGacactatcttccaccatttc	7	13	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:13316875G>A	uc003naj.2	-	5	538	c.447C>T	c.(445-447)GTC>GTT	p.V149V	TBC1D7_uc011dis.1_RNA|TBC1D7_uc003nan.2_Silent_p.V149V|TBC1D7_uc003nal.2_Silent_p.V149V|TBC1D7_uc003nam.2_Silent_p.V149V|TBC1D7_uc003nao.2_Silent_p.V122V|TBC1D7_uc010jpd.2_Intron|TBC1D7_uc003nap.2_Silent_p.V122V	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7 isoform a	149	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			ovary(1)	1	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			AGTAACAGTCGACACTATCTT	0.423													A	13316875	G	A	13316875	2	1	48	1	0	0	0	0	0	0	0	1	15621	1045	37	1		1	TBC1D7	6	13316875	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	7947479	13316875	157798192	254	38271											
MRS2	57380	broad.mit.edu	37	chr6	24418358	24418358	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagaagagatggagttgCtgttggaaaactactaccga	12	6	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:24418358C>T	uc003neb.2	+	8	1005	c.883C>T	c.(883-885)CTG>TTG	p.L295L	MRS2_uc003nea.2_Silent_p.L295L|MRS2_uc011djl.1_Silent_p.L298L|MRS2_uc011djm.1_RNA|MRS2_uc011djn.1_Silent_p.L245L|MRS2_uc003nec.2_Silent_p.L172L	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN	MRS2-like, magnesium homeostasis factor	295	Mitochondrial matrix (Potential).				ion transport	integral to membrane|mitochondrial inner membrane					0						GATGGAGTTGCTGTTGGAAAA	0.383													T	24418358	C	T	24418358	2	4	48	1	0	0	0	0	0	0	0	1	9851	796	28	2		2	MRS2	6	24418358	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	11101483	24418358	146696709	255	38272											
HIST1H4C	8364	broad.mit.edu	37	chr6	26104418	26104419	+	Frame_Shift_Del	DEL	TG	TG	-													gagcacgccaagcgcaaaacTgtcacagccatggatgtagt							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:26104417_26104418CTG>C	uc003ngi.3	+	0	242_243	c.242_243CTG>C	c.(241-243)actfs	p.T81fs		NM_003542	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4c (HIST1H4C), mRNA.	81					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.T81I(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						AAGCGCAAAACTGTCACAGCCA	0.505													-	26104419	TG	-	26104418	7	5	48	1	0	1	0	1	0	0	0	0	7167	1567	55	0	245	0	HIST1H4C	6	26104418	Frame_Shift_Del	DEL	TG	TCGA-BR-7703-01A-11D-2053-08	1686060	26104418	145010649	256	38273											
ZNF322A	79692	broad.mit.edu	37	chr6	26638628	26638628	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagctaagttttcacagaAgttttgcttgcattcaaggc	9	7	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:26638628A>C	uc003nil.3	-	4	783	c.154T>G	c.(154-156)TTC>GTC	p.F52V	ZNF322A_uc003nij.2_5'Flank	NM_024639	NP_078915	Q6U7Q0	Z322A_HUMAN	zinc finger protein 322A	52	C2H2-type 1; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0						TTTTCACAGAAGTTTTGCTTG	0.363													C	26638628	A	C	26638628	3	2	48	1	0	0	0	0	1	0	0	0	17838	72	3	5	1058	5	ZNF322A	6	26638628	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	534210	26638628	144476439	257	38274											
HIST1H1B	3009	broad.mit.edu	37	chr6	27835239	27835241	+	In_Frame_Del	DEL	CTT	CTT	-													ccggcagccttcttagttgcCttcttcttagccggggattt							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:27835239_27835241delCTT	uc003njx.2	-	1	119_121	c.67_69delAAG	c.(67-69)AAGdel	p.K23del		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	23					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						TCTTAGTTGCCTTCTTCTTAGCC	0.606													-	27835241	CTT	-	27835239	7	5	48	1	0	1	0	1	0	0	0	0	7123	680	24	0	615	0	HIST1H1B	6	27835239	In_Frame_Del	DEL	CTT	TCGA-BR-7703-01A-11D-2053-08	1196611	27835239	143279828	258	38275											
OR2J2	26707	broad.mit.edu	37	chr6	29141713	29141713	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgtatgctggttgcatggttCaactttactttgttcttgca	9	8	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:29141713C>A	uc011dlm.1	+	1	403	c.301C>A	c.(301-303)CAA>AAA	p.Q101K		NM_030905	NP_112167	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J,	101	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTGCATGGTTCAACTTTACTT	0.478													A	29141713	C	A	29141713	3	1	48	1	0	0	0	0	1	0	0	0	11003	827	29	5	303	5	OR2J2	6	29141713	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1306474	29141713	141973354	259	38276											
GABBR1	2550	broad.mit.edu	37	chr6	29599254	29599254	+	Frame_Shift_Del	DEL	C	C	-													gggccccaccacctcgcgctCcccccggcacacatactcaa							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:29599253_29599253TC>T	uc003nmt.4	-	2	545	c.209_209GA>A	c.(208-210)gagfs	p.E70fs	GABBR1_uc003nmu.4_Frame_Shift_Del_p.E70fs|GABBR1_uc011dlr.2_5'UTR|GABBR1_uc011dls.1_Frame_Shift_Del_p.E70fs	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	70	Sushi 1.				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CACCTCGCGCTCCCCCCGGCA	0.632													-	29599254	C	-	29599254	7	5	48	1	0	1	0	1	0	0	0	0	6155	864	30	0	2906	0	GABBR1	6	29599254	Frame_Shift_Del	DEL	C	TCGA-BR-7703-01A-11D-2053-08	457541	29599254	141515813	260	38277											
MRPS18B	28973	broad.mit.edu	37	chr6	30587710	30587712	+	In_Frame_Del	DEL	GTT	GTT	-													ctctacagcgtcggaataaaGttgttgggaatccctgcccc							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:30587709_30587711AGTT>A	uc003nqo.2	+	3	454_456	c.297_299AGTT>A	c.(295-300)aaagtt>aaAt	p.V101del	PPP1R10_uc003nqn.1_5'Flank|PPP1R10_uc010jsc.1_5'Flank|MRPS18B_uc011dml.1_In_Frame_Del_p.V101del	NM_014046	NP_054765	Q9Y676	RT18B_HUMAN	Homo sapiens mitochondrial ribosomal protein S18B (MRPS18B), nuclear gene encoding mitochondrial protein, mRNA.	101					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						GTCGGAATAAAGTTGTTGGGAAT	0.419													-	30587712	GTT	-	30587710	7	5	48	1	0	1	0	1	0	0	0	0	9829	1029	36	0	312	0	MRPS18B	6	30587710	In_Frame_Del	DEL	GTT	TCGA-BR-7703-01A-11D-2053-08	988456	30587710	140527357	261	38278											
KIAA1949	170954	broad.mit.edu	37	chr6	30647115	30647115	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtaccgaactctcggAggggtattggtacgtggtct	13	10	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:30647115A>G	uc003nra.2	-	3	1894	c.1663T>C	c.(1663-1665)TCC>CCC	p.S555P	KIAA1949_uc003nrb.3_Missense_Mutation_p.S555P	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN	phostensin	555						cytoplasm|cytoskeleton	actin binding				0						GAACTCTCGGAGGGGTATTGG	0.612													G	30647115	A	G	30647115	3	3	48	1	0	0	0	0	1	0	0	0	8263	304	11	3	186	3	KIAA1949	6	30647115	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	59405	30647115	140467952	262	38279											
MDC1	9656	broad.mit.edu	37	chr6	30672422	30672422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttcttcccctagtggtcCgagatgtgggctcagaggtg	13	9	2	2	rs148973631		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:30672422C>T	uc003nrg.3	-	10	4978	c.4538G>A	c.(4537-4539)CGG>CAG	p.R1513Q	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.R1120Q	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1513	Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						CCTAGTGGTCCGAGATGTGGG	0.577								Other_conserved_DNA_damage_response_genes					T	30672422	C	T	30672422	3	4	48	1	0	0	0	0	1	0	0	0	9403	652	23	1	1755	1	MDC1	6	30672422	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	25307	30672422	140442645	263	38280											
C6orf27	80737	broad.mit.edu	37	chr6	31734483	31734483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaatgcggctgaggatcCccaggattggctctggaacc	14	10	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:31734483C>T	uc011dog.1	-	14	2179	c.1941G>A	c.(1939-1941)GGG>GGA	p.G647G	C6orf27_uc003nxd.2_Silent_p.G322G	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	647						extracellular region				ovary(3)	3						GCTGAGGATCCCCAGGATTGG	0.622													T	31734483	C	T	31734483	2	4	48	1	0	0	0	0	0	0	0	1	2362	610	22	4		4	C6orf27	6	31734483	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1062061	31734483	139380584	264	38281											
EHMT2	10919	broad.mit.edu	37	chr6	31857080	31857080	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccatgggctgtcttttcGccatttcttcttggccttgc	8	14	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:31857080G>A	uc003nxz.1	-	9	1049	c.1039C>T	c.(1039-1041)CGA>TGA	p.R347*	EHMT2_uc003nxy.1_Nonsense_Mutation_p.R138*|EHMT2_uc011don.1_Nonsense_Mutation_p.R404*|EHMT2_uc003nya.1_Nonsense_Mutation_p.R347*	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	347					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						CTGTCTTTTCGCCATTTCTTC	0.647													A	31857080	G	A	31857080	4	1	48	1	0	0	0	0	0	1	0	0	4984	1095	38	1	2673	1	EHMT2	6	31857080	Nonsense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	122597	31857080	139257987	265	38282											
SKIV2L	6499	broad.mit.edu	37	chr6	31931727	31931727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccctcctggcctccctccGcacacgtgcccagttgcccg	9	21	0	0	rs147878364	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:31931727G>A	uc003nyn.1	+	16	2074	c.1685G>A	c.(1684-1686)CGC>CAC	p.R562H	SKIV2L_uc011dou.1_Missense_Mutation_p.R404H|SKIV2L_uc011dov.1_Missense_Mutation_p.R369H	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	562						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						GCCTCCCTCCGCACACGTGCC	0.632													A	31931727	G	A	31931727	3	1	48	1	0	0	0	0	1	0	0	0	14359	1087	38	1	1747	1	SKIV2L	6	31931727	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	74647	31931727	139183340	266	38283											
TNXB	7148	broad.mit.edu	37	chr6	31977539	31977539	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgtcccaaaacacgtTcaggggccgctcccggttgc	10	16	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:31977539T>C	uc011dpc.1	-	12	2365	c.1456A>G	c.(1456-1458)AAC>GAC	p.N486D		NM_032470	NP_115859	P22105	TENX_HUMAN	tenascin XB isoform 2	4102	Fibrinogen C-terminal.			N -> I (in Ref. 5; AAI25115).	actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CAAAACACGTTCAGGGGCCGC	0.667													C	31977539	T	C	31977539	3	2	48	1	0	0	0	0	1	0	0	0	16343	1783	62	3	585	3	TNXB	6	31977539	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	45812	31977539	139137528	267	38284											
TNXB	7148	broad.mit.edu	37	chr6	32036744	32036744	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaccatttggagttgcccGtctctatctgtgtactggat	11	10	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:32036744G>A	uc003nzl.2	-	16	5959	c.5757C>T	c.(5755-5757)GAC>GAT	p.D1919D		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2001	Fibronectin type-III 12.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GGAGTTGCCCGTCTCTATCTG	0.532													A	32036744	G	A	32036744	2	1	48	1	0	0	0	0	0	0	0	1	16343	1136	40	1		1	TNXB	6	32036744	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	59205	32036744	139078323	268	38285											
HLA-DMB	3109	broad.mit.edu	37	chr6	32903313	32903313	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagttcagcgagtcactcacTagagtggccagctctccgcc	11	14	4	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:32903313T>C	uc003ocl.1	-	4	972	c.739A>G	c.(739-741)AGT>GGT	p.S247G	HLA-DMB_uc003ocj.1_3'UTR|HLA-DMB_uc003ock.1_RNA|HLA-DMB_uc010jud.1_Missense_Mutation_p.R116G|HLA-DMB_uc010jue.1_Intron|HLA-DMB_uc010juf.1_Intron	NM_002118	NP_002109	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM	247	Cytoplasmic (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex					0						AGTCACTCACTAGAGTGGCCA	0.517													C	32903313	T	C	32903313	3	2	48	1	0	0	0	0	1	0	0	0	7199	1536	53	3	64	3	HLA-DMB	6	32903313	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	866569	32903313	138211754	269	38286											
TAPBP	6892	broad.mit.edu	37	chr6	33281220	33281220	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcgggggcgccccggggataCcgcctgaaggcagcctggag	19	13	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:33281220C>G	uc003odx.1	-	3	414	c.243G>C	c.(241-243)CGG>CGC	p.R81R	TAPBP_uc010jus.1_Silent_p.R81R|TAPBP_uc003ody.2_Silent_p.R81R|TAPBP_uc003odz.2_Silent_p.R81R|TAPBP_uc010jut.1_Intron|TAPBP_uc011drc.1_Silent_p.R81R	NM_003190	NP_003181	O15533	TPSN_HUMAN	tapasin isoform 1 precursor	81	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			ovary(1)	1						CCCGGGGATACCGCCTGAAGG	0.687													G	33281220	C	G	33281220	2	3	48	1	0	0	0	0	0	0	0	1	15549	494	18	5		5	TAPBP	6	33281220	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	377907	33281220	137833847	270	38287											
GRM4	2914	broad.mit.edu	37	chr6	34101144	34101144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgatgtccccatctatgcGgatggaattcatgtgagggt	13	7	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:34101144G>A	uc003oir.3	-	1	300	c.130C>T	c.(130-132)CGC>TGC	p.R44C	GRM4_uc011dsn.1_Missense_Mutation_p.R44C|GRM4_uc010jvh.2_Missense_Mutation_p.R44C|GRM4_uc010jvi.2_5'UTR|GRM4_uc010jvk.1_Intron	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	44	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R44C(2)		lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	CCATCTATGCGGATGGAATTC	0.612													A	34101144	G	A	34101144	3	1	48	1	0	0	0	0	1	0	0	0	6799	1116	39	1	2648	1	GRM4	6	34101144	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	819924	34101144	137013923	271	38288											
STK38	11329	broad.mit.edu	37	chr6	36465583	36465583	+	Frame_Shift_Del	DEL	A	A	-													tgttcccagtcaacgccttcAaaaaaagagttactttttat							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:36465583delA	uc003omg.2	-	11	1734	c.1146delT	c.(1144-1146)TTTfs	p.F382fs	STK38_uc003omh.2_Frame_Shift_Del_p.F382fs|STK38_uc003omi.2_Frame_Shift_Del_p.F382fs	NM_007271	NP_009202	Q15208	STK38_HUMAN	serine/threonine kinase 38	382	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						CAACGCCTTCAAAAAAAGAGT	0.368													-	36465583	A	-	36465583	7	5	48	1	0	1	0	1	0	0	0	0	15302	127	5	0	263	0	STK38	6	36465583	Frame_Shift_Del	DEL	A	TCGA-BR-7703-01A-11D-2053-08	2364439	36465583	134649484	272	38289											
MTCH1	23787	broad.mit.edu	37	chr6	36946316	36946316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagtcacagtagagagggCgttggacatcagccggggac	16	10	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:36946316C>T	uc003ond.1	-	3	478	c.478G>A	c.(478-480)GCC>ACC	p.A160T	MTCH1_uc003onc.1_Missense_Mutation_p.A160T|MTCH1_uc010jwo.1_RNA|MTCH1_uc003one.3_Missense_Mutation_p.A160T|MTCH1_uc011dtt.1_5'UTR	NM_014341	NP_055156	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier homolog 1	160	Solcar 1.				activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding				0						GTAGAGAGGGCGTTGGACATC	0.567													T	36946316	C	T	36946316	3	4	48	1	0	0	0	0	1	0	0	0	9913	768	27	1	680	1	MTCH1	6	36946316	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	480733	36946316	134168751	273	38290											
MOCS1	4337	broad.mit.edu	37	chr6	39881119	39881119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggccctcagtcaaggcCgcaaagtccaggagttcatc	13	12	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:39881119C>T	uc003opb.2	-	5	837	c.699G>A	c.(697-699)GCG>GCA	p.A233A	MOCS1_uc003opa.2_Silent_p.A233A|MOCS1_uc003opc.2_Silent_p.A233A|MOCS1_uc003opd.2_Silent_p.A233A|MOCS1_uc003ope.2_Silent_p.A146A	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	233	Molybdenum cofactor biosynthesis protein A.			A -> V (in Ref. 3; BAG51799/BAG62053).	Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAGTCAAGGCCGCAAAGTCCA	0.577													T	39881119	C	T	39881119	2	4	48	1	0	0	0	0	0	0	0	1	9690	639	23	1		1	MOCS1	6	39881119	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2934803	39881119	131233948	274	38291											
TREM1	54210	broad.mit.edu	37	chr6	41243898	41243898	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcagcgtgacagcaaacaGgacagagaagaccaggctct	11	12	2	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:41243898G>T	uc003oqf.1	-	4	734	c.670C>A	c.(670-672)CTG>ATG	p.L224M	TREM1_uc003oqg.1_3'UTR	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	224	Helical; (Potential).				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	ACAGCAAACAGGACAGAGAAG	0.547													T	41243898	G	T	41243898	3	4	48	1	0	0	0	0	1	0	0	0	16467	991	35	5	38	5	TREM1	6	41243898	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1362779	41243898	129871169	275	38292											
NCR2	9436	broad.mit.edu	37	chr6	41309825	41309825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcccccattgccctggtGcctgtgttctgtggactcct	11	15	1	0	rs138366454	by1000genomes	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:41309825G>A	uc003oqh.2	+	4	669	c.582G>A	c.(580-582)GTG>GTA	p.V194V	NCR2_uc003oqi.2_Silent_p.V206V|NCR2_uc003oqj.2_Silent_p.V194V	NM_004828	NP_004819	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	194	Helical; (Potential).				cellular defense response	integral to plasma membrane	transmembrane receptor activity			ovary(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					TTGCCCTGGTGCCTGTGTTCT	0.637													A	41309825	G	A	41309825	2	1	48	1	0	0	0	0	0	0	0	1	10238	1306	46	2		2	NCR2	6	41309825	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	65927	41309825	129805242	276	38293											
GUCA1A	2978	broad.mit.edu	37	chr6	42146094	42146094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtggaacagaagctccGctggtacttcaagctctatg	12	9	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:42146094G>A	uc003orx.2	+	4	923	c.278G>A	c.(277-279)CGC>CAC	p.R93H	GUCA1A_uc011duo.1_RNA|GUCA1A_uc010jxt.2_Missense_Mutation_p.R93H	NM_000409	NP_000400	P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	93	EF-hand 3.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity				0	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGAAGCTCCGCTGGTACTTC	0.617													A	42146094	G	A	42146094	3	1	48	1	0	0	0	0	1	0	0	0	6888	1087	38	1	284	1	GUCA1A	6	42146094	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	836269	42146094	128968973	277	38294											
PPP2R5D	5528	broad.mit.edu	37	chr6	42974953	42974953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttcagtgaacctcttccGgacgctgccaccttcatcga	8	14	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:42974953G>A	uc003oth.2	+	5	628	c.542G>A	c.(541-543)CGG>CAG	p.R181Q	MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Missense_Mutation_p.R149Q|PPP2R5D_uc010jyd.2_Missense_Mutation_p.R75Q|PPP2R5D_uc011dva.1_Missense_Mutation_p.R30Q|PPP2R5D_uc003oti.2_Missense_Mutation_p.R30Q|PPP2R5D_uc003otj.2_Missense_Mutation_p.R30Q	NM_006245	NP_006236	Q14738	2A5D_HUMAN	delta isoform of regulatory subunit B56, protein	181					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(1)|central_nervous_system(1)	2			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AACCTCTTCCGGACGCTGCCA	0.602													A	42974953	G	A	42974953	3	1	48	1	0	0	0	0	1	0	0	0	12395	1116	39	1	560	1	PPP2R5D	6	42974953	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	828859	42974953	128140114	278	38295											
CYP39A1	51302	broad.mit.edu	37	chr6	46607365	46607365	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctttcaacataatatagagTttttcatgcagtgctaaaaa	5	7	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:46607365T>A	uc003oyf.1	-	3	558	c.354A>T	c.(352-354)AAA>AAT	p.K118N	CYP39A1_uc011dwa.1_Intron|CYP39A1_uc010jzd.1_Intron	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A,	118					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(1)	1						TAATATAGAGTTTTTCATGCA	0.348													A	46607365	T	A	46607365	3	1	48	1	0	0	0	0	1	0	0	0	4177	1722	60	5	1095	5	CYP39A1	6	46607365	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	3632412	46607365	124507702	279	38296											
FILIP1	27145	broad.mit.edu	37	chr6	76024734	76024734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccctcagcttctgagTaagatcctgtactttctggc	7	12	4	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:76024734T>C	uc003pia.2	-	5	1187	c.814A>G	c.(814-816)ACT>GCT	p.T272A	FILIP1_uc003phy.1_Missense_Mutation_p.T272A|FILIP1_uc003phz.2_Missense_Mutation_p.T173A|FILIP1_uc010kbe.2_Missense_Mutation_p.T275A|FILIP1_uc003pib.1_Missense_Mutation_p.T24A	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	272	Potential.									skin(3)|ovary(1)	4						AGCTTCTGAGTAAGATCCTGT	0.413													C	76024734	T	C	76024734	3	2	48	1	0	0	0	0	1	0	0	0	5894	1638	57	3	2835	3	FILIP1	6	76024734	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	29417369	76024734	95090333	280	38297											
LCA5	167691	broad.mit.edu	37	chr6	80223368	80223368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacaagatcagtatctttcCgaagtggctctctattgagg	9	8	3	2	rs34531407	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:80223368C>T	uc003pix.2	-	3	716	c.281G>A	c.(280-282)CGG>CAG	p.R94Q	LCA5_uc003piy.2_Missense_Mutation_p.R94Q|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Missense_Mutation_p.R94Q	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	94					protein transport	cilium axoneme|microtubule basal body	protein binding				0		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		AGTATCTTTCCGAAGTGGCTC	0.453													T	80223368	C	T	80223368	3	4	48	1	0	0	0	0	1	0	0	0	8656	652	23	1	1836	1	LCA5	6	80223368	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	4198634	80223368	90891699	281	38298											
BCKDHB	594	broad.mit.edu	37	chr6	80881109	80881109	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atactttacagggcagcaggTaaagattttctttattttat	7	5	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:80881109T>C	uc003pjd.2	+	6	809	c.742_splice	c.e6+2	p.A248_splice	BCKDHB_uc003pje.2_Splice_Site_p.A248_splice	NM_000056	NP_000047	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1 beta						branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding				0		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GGGCAGCAGGTAAAGATTTTC	0.279													C	80881109	T	C	80881109	5	2	48	1	0	0	0	0	0	0	1	0	1360	1652	57	3	766	3	BCKDHB	6	80881109	Splice_Site	SNP	T	TCGA-BR-7703-01A-11D-2053-08	657741	80881109	90233958	282	38299											
SNX14	57231	broad.mit.edu	37	chr6	86256893	86256893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcagaaagttcataaaacGaaataaaagatcttgttgct	6	5	3	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:86256893G>A	uc003pkr.2	-	12	1238	c.1045C>T	c.(1045-1047)CGT>TGT	p.R349C	SNX14_uc003pkp.2_Missense_Mutation_p.R212C|SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Missense_Mutation_p.R297C|SNX14_uc003pks.2_Missense_Mutation_p.R305C|SNX14_uc003pkt.2_Missense_Mutation_p.R349C	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	349	RGS.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TTCATAAAACGAAATAAAAGA	0.338													A	86256893	G	A	86256893	3	1	48	1	0	0	0	0	1	0	0	0	14885	1058	37	1	1867	1	SNX14	6	86256893	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	5375784	86256893	84858174	283	38300											
SNX14	57231	broad.mit.edu	37	chr6	86283982	86283982	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacataattttaccttgggTttgtattttattgtgaagaa	7	4	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:86283982T>C	uc003pkr.2	-	2	448	c.255A>G	c.(253-255)AAA>AAG	p.K85K	SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Silent_p.K33K|SNX14_uc003pks.2_Silent_p.K85K|SNX14_uc003pkt.2_Silent_p.K85K	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	85					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TTACCTTGGGTTTGTATTTTA	0.313													C	86283982	T	C	86283982	2	2	48	1	0	0	0	0	0	0	0	1	14885	1722	60	3		3	SNX14	6	86283982	Silent	SNP	T	TCGA-BR-7703-01A-11D-2053-08	27089	86283982	84831085	284	38301											
EPHA7	2045	broad.mit.edu	37	chr6	93982022	93982022	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttagcacttactttctcGtaatacttgatttcatattc	3	10	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:93982022G>A	uc003poe.2	-	6	1684	c.1443C>T	c.(1441-1443)TAC>TAT	p.Y481Y	EPHA7_uc003pof.2_Silent_p.Y481Y|EPHA7_uc011eac.1_Silent_p.Y481Y	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	481	Extracellular (Potential).|Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTACTTTCTCGTAATACTTGA	0.423													A	93982022	G	A	93982022	2	1	48	1	0	0	0	0	0	0	0	1	5172	1140	40	1		1	EPHA7	6	93982022	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	7698040	93982022	77133045	285	38302											
SOBP	55084	broad.mit.edu	37	chr6	107955431	107955431	+	Frame_Shift_Del	DEL	C	C	-													atgctatcgccccacatccaCcccccgagcacccccaccat							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:107955431delC	uc003prx.2	+	6	1887	c.1383delC	c.(1381-1383)CACfs	p.H461fs		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	461	Pro-rich.						metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CCCACATCCACCCCCCGAGCA	0.746													-	107955431	C	-	107955431	7	5	48	1	0	1	0	1	0	0	0	0	14912	506	18	0	1405	0	SOBP	6	107955431	Frame_Shift_Del	DEL	C	TCGA-BR-7703-01A-11D-2053-08	13973409	107955431	63159636	286	38303											
HDDC2	51020	broad.mit.edu	37	chr6	125619888	125619888	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctatgtttttcttctttgGggatgttatctgctggtgct	11	7	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:125619888G>T	uc003qaa.1	-	3	485	c.281C>A	c.(280-282)CCC>CAC	p.P94H	HDDC2_uc003qab.1_Intron	NM_016063	NP_057147	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	94	HD.						metal ion binding|phosphoric diester hydrolase activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		TTCTTCTTTGGGGATGTTATC	0.308													T	125619888	G	T	125619888	3	4	48	1	0	0	0	0	1	0	0	0	7016	1232	43	5	349	5	HDDC2	6	125619888	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	17664457	125619888	45495179	287	38304											
TMEM200A	114801	broad.mit.edu	37	chr6	130762378	130762378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactgatgataagaccagcGgctctaagaaatgtgaaacc	9	9	1	5			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:130762378G>A	uc003qca.2	+	3	1682	c.811G>A	c.(811-813)GGC>AGC	p.G271S	TMEM200A_uc010kfh.2_Missense_Mutation_p.G271S|TMEM200A_uc010kfi.2_Missense_Mutation_p.G271S|TMEM200A_uc003qcb.2_Missense_Mutation_p.G271S	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	271	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TAAGACCAGCGGCTCTAAGAA	0.453													A	130762378	G	A	130762378	3	1	48	1	0	0	0	0	1	0	0	0	16120	1116	39	1	813	1	TMEM200A	6	130762378	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	5142490	130762378	40352689	288	38305											
MOXD1	26002	broad.mit.edu	37	chr6	132643931	132643931	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcgaaaatgacgcagccTgatgcctctgccagccaggt	10	12	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:132643931T>C	uc003qdf.2	-	8	1291	c.1192A>G	c.(1192-1194)AGG>GGG	p.R398G	MOXD1_uc003qde.2_Missense_Mutation_p.R330G	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	398	Lumenal (Potential).				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TGACGCAGCCTGATGCCTCTG	0.448													C	132643931	T	C	132643931	3	2	48	1	0	0	0	0	1	0	0	0	9720	1579	55	3	669	3	MOXD1	6	132643931	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	1881553	132643931	38471136	289	38306											
HIVEP2	3097	broad.mit.edu	37	chr6	143093193	143093193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaggtttatcaggctcctCggtcactcgaatctcaggaa	9	12	4	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:143093193C>T	uc003qjd.2	-	5	3426	c.2683G>A	c.(2683-2685)GAG>AAG	p.E895K		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	895					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCAGGCTCCTCGGTCACTCGA	0.537													T	143093193	C	T	143093193	3	4	48	1	0	0	0	0	1	0	0	0	7187	893	31	1	4681	1	HIVEP2	6	143093193	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	10449262	143093193	28021874	290	38307											
UTRN	7402	broad.mit.edu	37	chr6	144780470	144780470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagaggctgtagaggatcGtcaacaacatctagagaatg	11	7	2	3	rs115273171	by1000genomes	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:144780470G>A	uc003qkt.2	+	20	2779	c.2687G>A	c.(2686-2688)CGT>CAT	p.R896H	UTRN_uc010khq.1_Missense_Mutation_p.R896H	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	896	Interaction with SYNM.|Spectrin 6.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GTAGAGGATCGTCAACAACAT	0.463													A	144780470	G	A	144780470	3	1	48	1	0	0	0	0	1	0	0	0	17100	1145	40	1	2765	1	UTRN	6	144780470	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1687277	144780470	26334597	291	38308											
SYNE1	23345	broad.mit.edu	37	chr6	152476161	152476161	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaatttctgccacaatcGccacgtctcttcgattctgg	7	13	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:152476161G>A	uc010kiw.2	-	133	24597	c.23995C>T	c.(23995-23997)CGA>TGA	p.R7999*	SYNE1_uc010kiv.2_Nonsense_Mutation_p.R2523*|SYNE1_uc003qos.3_Nonsense_Mutation_p.R2523*|SYNE1_uc003qot.3_Nonsense_Mutation_p.R7928*|SYNE1_uc003qou.3_Nonsense_Mutation_p.R7999*|SYNE1_uc003qop.3_Nonsense_Mutation_p.R161*|SYNE1_uc011eez.1_Nonsense_Mutation_p.R201*|SYNE1_uc003qoq.3_Nonsense_Mutation_p.R201*|SYNE1_uc003qor.3_Nonsense_Mutation_p.R899*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7999	Spectrin 29.|Cytoplasmic (Potential).|HAT 12.				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)		TGCCACAATCGCCACGTCTCT	0.473										HNSCC(10;0.0054)			A	152476161	G	A	152476161	4	1	48	1	0	0	0	0	0	1	0	0	15442	1095	38	1	2527	1	SYNE1	6	152476161	Nonsense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	7695691	152476161	18638906	292	38309											
FRMD1	79981	broad.mit.edu	37	chr6	168461723	168461723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgctgatataggactcccGgtagtgctgcttctctgtgg	12	10	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:168461723G>A	uc003qwo.3	-	9	1125	c.1060C>T	c.(1060-1062)CGG>TGG	p.R354W	FRMD1_uc003qwm.3_Missense_Mutation_p.R148W|FRMD1_uc011egs.1_Missense_Mutation_p.R125W|FRMD1_uc011egt.1_Missense_Mutation_p.R289W|FRMD1_uc003qwn.3_Missense_Mutation_p.R286W	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	FERM domain containing 1 isoform 1	354	FERM.					cytoskeleton	binding			ovary(1)	1		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TAGGACTCCCGGTAGTGCTGC	0.642													A	168461723	G	A	168461723	3	1	48	1	0	0	0	0	1	0	0	0	6049	1115	39	1	601	1	FRMD1	6	168461723	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	15985562	168461723	2653344	293	38310											
INTS1	26173	broad.mit.edu	37	chr7	1514368	1514368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagcgggtgcgccaccGccagcttccggcaggccatg	15	16	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:1514368G>A	uc003skn.2	-	40	5710	c.5609C>T	c.(5608-5610)GCG>GTG	p.A1870V	INTS1_uc003skm.1_Missense_Mutation_p.A7V	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1870					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GTGCGCCACCGCCAGCTTCCG	0.682													A	1514368	G	A	1514368	3	1	48	1	0	0	0	0	1	0	0	0	7775	1087	38	1	999	1	INTS1	7	1514368	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08		1514368	157624295	294	38311											
SDK1	221935	broad.mit.edu	37	chr7	4188998	4188998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacggggcctcccccatcCggtacttcaccatgcaggtg	12	16	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:4188998C>T	uc003smx.2	+	30	4667	c.4528C>T	c.(4528-4530)CGG>TGG	p.R1510W	SDK1_uc010kso.2_Missense_Mutation_p.R786W|SDK1_uc003smy.2_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1510	Fibronectin type-III 9.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTCCCCCATCCGGTACTTCAC	0.677													T	4188998	C	T	4188998	3	4	48	1	0	0	0	0	1	0	0	0	13968	643	23	1	4646	1	SDK1	7	4188998	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2674630	4188998	154949665	295	38312											
THSD7A	221981	broad.mit.edu	37	chr7	11675852	11675852	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatttgttctcttgtctgttCtgcctgtttctgtttctctt	6	9	5	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:11675852C>A	uc003ssf.3	-	2	1179	c.927G>T	c.(925-927)CAG>CAT	p.Q309H		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	309	Extracellular (Potential).|Potential.					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTTGTCTGTTCTGCCTGTTTC	0.443										HNSCC(18;0.044)			A	11675852	C	A	11675852	3	1	48	1	0	0	0	0	1	0	0	0	15876	912	32	5	4150	5	THSD7A	7	11675852	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	7486854	11675852	147462811	296	38313											
DFNA5	1687	broad.mit.edu	37	chr7	24784260	24784260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgaagactggctctctaCgcggctgctgccccccaggt	11	14	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:24784260C>T	uc010kus.1	-	3	413	c.325G>A	c.(325-327)GTA>ATA	p.V109I	DFNA5_uc003swz.2_5'UTR|DFNA5_uc003sxa.1_Missense_Mutation_p.V109I|DFNA5_uc010kut.1_5'UTR|DFNA5_uc003sxb.2_Missense_Mutation_p.V109I|DFNA5_uc003sxc.2_Missense_Mutation_p.V109I	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5 protein isoform	109					sensory perception of sound					ovary(1)	1						TGGCTCTCTACGCGGCTGCTG	0.547													T	24784260	C	T	24784260	3	4	48	1	0	0	0	0	1	0	0	0	4454	536	19	1	1197	1	DFNA5	7	24784260	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	13108408	24784260	134354403	297	38314											
WIPF3	644150	broad.mit.edu	37	chr7	29915533	29915533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcaaggaactcgcctgCgcaaagtcacgcagatcaac	9	14	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:29915533C>T	uc003taj.1	+	2	178	c.178C>T	c.(178-180)CGC>TGC	p.R60C		NM_001080529	NP_001073998	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	60										ovary(1)	1						AACTCGCCTGCGCAAAGTCAC	0.592													T	29915533	C	T	29915533	3	4	48	1	0	0	0	0	1	0	0	0	17366	768	27	1	184	1	WIPF3	7	29915533	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	5131273	29915533	129223130	298	38315											
C7orf41	222166	broad.mit.edu	37	chr7	30197086	30197086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggatgcagatgacgatgcGtttgaagagtacagtgctga	14	7	0	5			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:30197086G>A	uc011kab.1	+	3	519	c.318G>A	c.(316-318)GCG>GCA	p.A106A	C7orf41_uc010kvr.1_RNA|C7orf41_uc003tar.1_Silent_p.A106A	NM_152793	NP_690006	Q8N3F0	CG041_HUMAN	hypothetical protein LOC222166	106											0						ATGACGATGCGTTTGAAGAGT	0.567													A	30197086	G	A	30197086	2	1	48	1	0	0	0	0	0	0	0	1	2391	1132	40	1		1	C7orf41	7	30197086	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	281553	30197086	128941577	299	38316											
KIAA0895	23366	broad.mit.edu	37	chr7	36396613	36396613	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgtaggtatagtcagatttGaagaatctcagtttttcttt	8	4	3	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:36396613G>C	uc003tfd.2	-	3	816	c.765C>G	c.(763-765)TTC>TTG	p.F255L	KIAA0895_uc003tfc.2_Missense_Mutation_p.F242L|KIAA0895_uc011kaw.1_Missense_Mutation_p.F104L|KIAA0895_uc003tfb.2_Missense_Mutation_p.F204L|KIAA0895_uc011kax.1_Missense_Mutation_p.F204L|KIAA0895_uc003tfe.2_Missense_Mutation_p.F242L|KIAA0895_uc011kay.1_Missense_Mutation_p.F204L	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN	hypothetical protein LOC23366 isoform 1	255											0						AGTCAGATTTGAAGAATCTCA	0.393													C	36396613	G	C	36396613	3	2	48	1	0	0	0	0	1	0	0	0	8197	1281	45	5	817	5	KIAA0895	7	36396613	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	6199527	36396613	122742050	300	38317											
KIAA0895	23366	broad.mit.edu	37	chr7	36397160	36397160	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aatcttctgcatttagaataGacttcttagcaagttcttgc	6	8	4	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:36397160G>C	uc003tfd.2	-	3	269	c.218C>G	c.(217-219)TCT>TGT	p.S73C	KIAA0895_uc003tfc.2_Missense_Mutation_p.S60C|KIAA0895_uc011kaw.1_5'UTR|KIAA0895_uc003tfb.2_Missense_Mutation_p.S22C|KIAA0895_uc011kax.1_Missense_Mutation_p.S22C|KIAA0895_uc003tfe.2_Missense_Mutation_p.S60C|KIAA0895_uc011kay.1_Missense_Mutation_p.S22C	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN	hypothetical protein LOC23366 isoform 1	73											0						ATTTAGAATAGACTTCTTAGC	0.353													C	36397160	G	C	36397160	3	2	48	1	0	0	0	0	1	0	0	0	8197	942	33	5	1364	5	KIAA0895	7	36397160	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	547	36397160	122741503	301	38318											
TXNDC3	51314	broad.mit.edu	37	chr7	37901736	37901736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgcagcaggtgaaatggCtcgacctcaggtaatacttt	10	8	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:37901736C>T	uc003tfn.2	+	7	749	c.377C>T	c.(376-378)GCT>GTT	p.A126V		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	126					cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						GGTGAAATGGCTCGACCTCAG	0.358									Kartagener_syndrome				T	37901736	C	T	37901736	3	4	48	1	0	0	0	0	1	0	0	0	16795	797	28	2	395	2	TXNDC3	7	37901736	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1504576	37901736	121236927	302	38319											
CCM2	83605	broad.mit.edu	37	chr7	45115406	45115406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatccctgagaaggacaGccagcacttcgagaacttcc	8	14	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:45115406G>A	uc003tmo.2	+	10	1231	c.1085G>A	c.(1084-1086)AGC>AAC	p.S362N	CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Missense_Mutation_p.S304N|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Missense_Mutation_p.S271N|CCM2_uc003tms.2_Missense_Mutation_p.S383N	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 2	362					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0						GAGAAGGACAGCCAGCACTTC	0.607									Familial_Cerebral_Cavernous_Angioma				A	45115406	G	A	45115406	3	1	48	1	0	0	0	0	1	0	0	0	2908	971	34	2	1220	2	CCM2	7	45115406	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	7213670	45115406	114023257	303	38320											
C7orf42	55069	broad.mit.edu	37	chr7	66413644	66413644	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtattcacagcctgcatgAccctcacggccagccctggg	11	15	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:66413644A>G	uc003tvk.2	+	4	823	c.559A>G	c.(559-561)ACC>GCC	p.T187A	C7orf42_uc010lah.2_RNA|C7orf42_uc003tvl.2_Missense_Mutation_p.T187A	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN	hypothetical protein LOC55069	187	Helical; (Potential).					integral to membrane				ovary(1)	1						AGCCTGCATGACCCTCACGGC	0.592													G	66413644	A	G	66413644	3	3	48	1	0	0	0	0	1	0	0	0	2392	275	10	3	569	3	C7orf42	7	66413644	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	21298238	66413644	92725019	304	38321											
LAT2	7462	broad.mit.edu	37	chr7	73638506	73638506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatccatccatcagtggCgcgagtccaggaaggtcatg	12	12	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:73638506C>T	uc003uag.2	+	12	1157	c.607C>T	c.(607-609)CGC>TGC	p.R203C	RFC2_uc011kfa.1_Intron|LAT2_uc003uah.2_Missense_Mutation_p.R203C|LAT2_uc003uai.2_Missense_Mutation_p.R203C|LAT2_uc010lbo.2_RNA	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family member	203	Cytoplasmic (Potential).				B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding				0						CCATCAGTGGCGCGAGTCCAG	0.587													T	73638506	C	T	73638506	3	4	48	1	0	0	0	0	1	0	0	0	8645	768	27	1	645	1	LAT2	7	73638506	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	7224862	73638506	85500157	305	38322											
HIP1	3092	broad.mit.edu	37	chr7	75168711	75168711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagctctcccagtttttgaCgctccttctgcaattcattt	6	12	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:75168711C>T	uc003uds.1	-	30	3034	c.2993G>A	c.(2992-2994)CGT>CAT	p.R998H	HIP1_uc011kfz.1_Missense_Mutation_p.R824H	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	998	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						CAGTTTTTGACGCTCCTTCTG	0.453			T	PDGFRB	CMML								T	75168711	C	T	75168711	3	4	48	1	0	0	0	0	1	0	0	0	7114	536	19	1	128	1	HIP1	7	75168711	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1530205	75168711	83969952	306	38323											
MAGI2	9863	broad.mit.edu	37	chr7	77814969	77814969	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaatccattcgaaaactgGtcctgggtggcacttgttct	11	9	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:77814969G>T	uc003ugx.2	-	13	2542	c.2288C>A	c.(2287-2289)ACC>AAC	p.T763N	MAGI2_uc003ugy.2_Intron|MAGI2_uc010ldx.1_Intron|MAGI2_uc010ldy.1_Missense_Mutation_p.T372N	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	763						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCGAAAACTGGTCCTGGGTGG	0.358													T	77814969	G	T	77814969	3	4	48	1	0	0	0	0	1	0	0	0	9191	1261	44	5	2119	5	MAGI2	7	77814969	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2646258	77814969	81323694	307	38324											
GRM3	2913	broad.mit.edu	37	chr7	86468840	86468840	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aactgcattgcccgcatcttCgatggggtcaagaatggcgc	12	11	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:86468840C>T	uc003uid.2	+	4	3109	c.2010C>T	c.(2008-2010)TTC>TTT	p.F670F	GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Silent_p.F542F|GRM3_uc010leh.2_Silent_p.F262F	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	670	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCCGCATCTTCGATGGGGTCA	0.537													T	86468840	C	T	86468840	2	4	48	1	0	0	0	0	0	0	0	1	6798	883	31	1		1	GRM3	7	86468840	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	8653871	86468840	72669823	308	38325											
ABCB4	5244	broad.mit.edu	37	chr7	87076415	87076415	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatccataccagaaggccaGtgcatatgatgcatatatta	9	8	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:87076415G>T	uc003uiv.1	-	9	1016	c.940C>A	c.(940-942)CTG>ATG	p.L314M	ABCB4_uc003uiw.1_Missense_Mutation_p.L314M|ABCB4_uc003uix.1_Missense_Mutation_p.L314M	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	314	Helical; (By similarity).|ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CAGAAGGCCAGTGCATATGAT	0.333													T	87076415	G	T	87076415	3	4	48	1	0	0	0	0	1	0	0	0	43	1020	36	5	3000	5	ABCB4	7	87076415	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	607575	87076415	72062248	309	38326											
SLC25A13	10165	broad.mit.edu	37	chr7	95906629	95906629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggacatgaaaaattcacCgtttttctcaatgcttgcat	9	8	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:95906629C>T	uc003uof.3	-	3	282	c.91G>A	c.(91-93)GGT>AGT	p.G31S	SLC25A13_uc003uog.3_Missense_Mutation_p.G31S|SLC25A13_uc011kik.1_5'UTR	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	31					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	AAAAATTCACCGTTTTTCTCA	0.318													T	95906629	C	T	95906629	3	4	48	1	0	0	0	0	1	0	0	0	14475	652	23	1	2003	1	SLC25A13	7	95906629	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	8830214	95906629	63232034	310	38327											
C7orf59	389541	broad.mit.edu	37	chr7	99751060	99751060	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatgatgagcaggcagccaGtgccatctctgagctggtca	13	10	2	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:99751060G>T	uc003utq.2	+	3	188	c.122G>T	c.(121-123)AGT>ATT	p.S41I		NM_001008395	NP_001008396	Q0VGL1	CG059_HUMAN	hypothetical protein LOC389541	41											0						CAGGCAGCCAGTGCCATCTCT	0.557													T	99751060	G	T	99751060	3	4	48	1	0	0	0	0	1	0	0	0	2406	1029	36	5	132	5	C7orf59	7	99751060	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	3844431	99751060	59387603	311	38328											
MEPCE	56257	broad.mit.edu	37	chr7	100028068	100028069	+	Frame_Shift_Ins	INS	-	-	G													tcagccccaccggccacctgINSgggggggcgggggcaagagg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:100028067_100028068T>TG	uc003uuw.3	+	0	814_815	c.426_427T>TG	c.(424-429)cctgggfs	p.P142fs	ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_Intron|MEPCE_uc022aio.1_Intron|MEPCE_uc003uuv.3_Intron	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.	142	Gly-rich.						methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCGGCCACCTGGGGGGGGCGG	0.693													G	100028069	-	G	100028068	7	5	48	1	0	1	1	0	0	0	0	0	9477	1348	47	0	429	0	MEPCE	7	100028068	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	277008	100028068	59110595	312	38329											
TSC22D4	81628	broad.mit.edu	37	chr7	100064674	100064674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgggctggccagggcgcGcagcagcccattctcctgct	13	17	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:100064674G>A	uc003uva.2	-	5	1851	c.1096C>T	c.(1096-1098)CGC>TGC	p.R366C	C7orf61_uc003uuz.1_5'Flank|TSC22D4_uc003uvb.2_Missense_Mutation_p.R127C|TSC22D4_uc011kjv.1_Missense_Mutation_p.R127C|TSC22D4_uc010lgx.2_Missense_Mutation_p.R366C	NM_030935	NP_112197	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	366					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCAGGGCGCGCAGCAGCCCA	0.701													A	100064674	G	A	100064674	3	1	48	1	0	0	0	0	1	0	0	0	16607	1087	38	1	95	1	TSC22D4	7	100064674	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	36606	100064674	59073989	313	38330											
CUX1	1523	broad.mit.edu	37	chr7	101870917	101870917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctacggcataaccaagcGggtgaaggaggtgctgacgg	15	10	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:101870917G>A	uc003uyx.3	+	21	3439	c.3401G>A	c.(3400-3402)CGG>CAG	p.R1134Q	CUX1_uc003uys.3_Missense_Mutation_p.R1145Q|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	1134	CUT 3.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						ATAACCAAGCGGGTGAAGGAG	0.612													A	101870917	G	A	101870917	3	1	48	1	0	0	0	0	1	0	0	0	4064	1116	39	1	3550	1	CUX1	7	101870917	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1806243	101870917	57267746	314	38331											
ORAI2	80228	broad.mit.edu	37	chr7	102087196	102087196	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcctggggcttctccacCgtgcttggcatcctactctt	10	15	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:102087196C>T	uc010lhz.1	+	4	697	c.462C>T	c.(460-462)ACC>ACT	p.T154T	ORAI2_uc003uzj.2_Silent_p.T154T|ORAI2_uc003uzk.2_Silent_p.T154T|ORAI2_uc011kks.1_Silent_p.T77T	NM_001126340	NP_001119812	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator	154	Helical; (Potential).					integral to membrane	protein binding			ovary(1)|kidney(1)	2						GCTTCTCCACCGTGCTTGGCA	0.647													T	102087196	C	T	102087196	2	4	48	1	0	0	0	0	0	0	0	1	11258	639	23	1		1	ORAI2	7	102087196	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	216279	102087196	57051467	315	38332											
PMPCB	9512	broad.mit.edu	37	chr7	102948086	102948086	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacttagcaaagtttcatttCggtgactctttatgcacaca	7	9	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:102948086C>T	uc003vbl.2	+	7	814	c.780C>T	c.(778-780)TTC>TTT	p.F260F	PMPCB_uc010liu.1_Silent_p.F260F|PMPCB_uc003vbk.1_Silent_p.F260F|PMPCB_uc003vbm.2_Silent_p.F169F|PMPCB_uc010liv.2_Silent_p.F166F|PMPCB_uc010liw.2_Silent_p.F169F|PMPCB_uc011kll.1_Silent_p.F155F|PMPCB_uc011klm.1_Silent_p.F135F	NM_004279	NP_004270	O75439	MPPB_HUMAN	mitochondrial processing peptidase beta subunit	260					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)	4						AGTTTCATTTCGGTGACTCTT	0.388													T	102948086	C	T	102948086	2	4	48	1	0	0	0	0	0	0	0	1	12141	883	31	1		1	PMPCB	7	102948086	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	860890	102948086	56190577	316	38333											
RELN	5649	broad.mit.edu	37	chr7	103113285	103113285	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatcgcctaagtgaccttcGtcttctgttgtagaaatgtc	9	9	2	2	rs139326865		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:103113285G>A	uc003vca.2	-	66	10517	c.10357C>T	c.(10357-10359)CGA>TGA	p.R3453*	RELN_uc010liz.2_Nonsense_Mutation_p.R3451*	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3453	Arg-rich (basic).				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGTGACCTTCGTCTTCTGTTG	0.378													A	103113285	G	A	103113285	4	1	48	1	0	0	0	0	0	1	0	0	13220	1153	40	1	29	1	RELN	7	103113285	Nonsense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	165199	103113285	56025378	317	38334											
RELN	5649	broad.mit.edu	37	chr7	103124242	103124242	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggggccactcaggtcacTgttgcagctgtccgtctgcg	15	12	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:103124242T>C	uc003vca.2	-	62	10199	c.10039A>G	c.(10039-10041)AGT>GGT	p.S3347G	RELN_uc010liz.2_Missense_Mutation_p.S3347G	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3347					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTCAGGTCACTGTTGCAGCTG	0.468													C	103124242	T	C	103124242	3	2	48	1	0	0	0	0	1	0	0	0	13220	1580	55	3	359	3	RELN	7	103124242	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	10957	103124242	56014421	318	38335											
ATXN7L1	222255	broad.mit.edu	37	chr7	105429099	105429099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgacctggttacaggcactGcacactacgagatagaagtc	10	11	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:105429099G>A	uc003vde.2	-	3	333	c.306C>T	c.(304-306)TGC>TGT	p.C102C	ATXN7L1_uc003vdi.2_Silent_p.C102C	NM_020725	NP_065776	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1 isoform 1	102											0						TACAGGCACTGCACACTACGA	0.517													A	105429099	G	A	105429099	2	1	48	1	0	0	0	0	0	0	0	1	1216	1311	46	2		2	ATXN7L1	7	105429099	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2304857	105429099	53709564	319	38336											
CBLL1	79872	broad.mit.edu	37	chr7	107395909	107395909	+	Frame_Shift_Del	DEL	A	A	-													tgactgtgctattttacatgAaaaaaagggagataagatgt							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:107395908_107395908GA>G	uc003veq.3	+	4	742	c.412_412GA>G	c.(412-414)gaafs	p.E138fs	CBLL1_uc011kme.2_Frame_Shift_Del_p.E17fs|CBLL1_uc011kmf.2_Frame_Shift_Del_p.E137fs	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA.	138					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TATTTTACATGAAAAAAAGGG	0.264													-	107395909	A	-	107395909	7	5	48	1	0	1	0	1	0	0	0	0	2703	246	9	0	431	0	CBLL1	7	107395909	Frame_Shift_Del	DEL	A	TCGA-BR-7703-01A-11D-2053-08	1966810	107395909	51742754	320	38337											
LAMB4	22798	broad.mit.edu	37	chr7	107745044	107745045	+	Frame_Shift_Del	DEL	AC	AC	-													ggaccatctgtattgtgctgAcacacacactgaccgtgaac							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:107745043_107745044GAC>G	uc010ljo.1	-	8	975_976	c.891_892GTC>C	c.(889-894)tgtcagfs	p.C297fs	LAMB4_uc003vey.2_Frame_Shift_Del_p.C297fs	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	297	Laminin EGF-like 1.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GTATTGTGCTGACACACACACT	0.495													-	107745045	AC	-	107745044	7	5	48	1	0	1	0	1	0	0	0	0	8613	273	10	0	4498	0	LAMB4	7	107745044	Frame_Shift_Del	DEL	AC	TCGA-BR-7703-01A-11D-2053-08	349135	107745044	51393619	321	38338											
LRRN3	54674	broad.mit.edu	37	chr7	110764026	110764026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgttttgcgtggacccaCctgaattccaaggtcagaat	9	11	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:110764026C>T	uc003vft.3	+	4	2244	c.1198C>T	c.(1198-1200)CCT>TCT	p.P400S	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.P400S|LRRN3_uc003vfs.3_Missense_Mutation_p.P400S	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	400	Extracellular (Potential).|LRRCT.					integral to membrane		p.P399fs*16(1)		skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CGTGGACCCACCTGAATTCCA	0.448													T	110764026	C	T	110764026	3	4	48	1	0	0	0	0	1	0	0	0	9036	507	18	4	1200	4	LRRN3	7	110764026	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	3018982	110764026	48374637	322	38339											
GRM8	2918	broad.mit.edu	37	chr7	126173502	126173502	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcggaaggagcatatgattGtatctggtgctgcaatcatt	12	6	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:126173502G>T	uc003vlr.2	-	8	2245	c.1934C>A	c.(1933-1935)ACA>AAA	p.T645K	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.T645K|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	645	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCATATGATTGTATCTGGTGC	0.458										HNSCC(24;0.065)			T	126173502	G	T	126173502	3	4	48	1	0	0	0	0	1	0	0	0	6803	1377	48	5	854	5	GRM8	7	126173502	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	15409476	126173502	32965161	323	38340											
FSCN3	29999	broad.mit.edu	37	chr7	127235874	127235874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttttcacatgcaagtgCggcctggagggcttgtggca	14	10	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:127235874C>T	uc003vmd.1	+	2	877	c.658C>T	c.(658-660)CGG>TGG	p.R220W	FSCN3_uc003vmc.1_Missense_Mutation_p.R175W|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Missense_Mutation_p.R86W|FSCN3_uc010llc.1_Missense_Mutation_p.R220W	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	220						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1						CATGCAAGTGCGGCCTGGAGG	0.562													T	127235874	C	T	127235874	3	4	48	1	0	0	0	0	1	0	0	0	6069	759	27	1	664	1	FSCN3	7	127235874	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1062372	127235874	31902789	324	38341											
DGKI	9162	broad.mit.edu	37	chr7	137304599	137304599	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcaccttaatgatccaagTgggcgggacaataacagcag	10	10	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:137304599T>A	uc003vtt.2	-	8	965	c.964A>T	c.(964-966)ACT>TCT	p.T322S	DGKI_uc003vtu.2_Missense_Mutation_p.T22S	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	322					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						ATGATCCAAGTGGGCGGGACA	0.498													A	137304599	T	A	137304599	3	1	48	1	0	0	0	0	1	0	0	0	4471	1696	59	5	2341	5	DGKI	7	137304599	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	10068725	137304599	21834064	325	38342											
HIPK2	28996	broad.mit.edu	37	chr7	139281492	139281492	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgtttctgttcctcctcCtcgtccgtgtcactgctgat	9	14	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:139281492C>G	uc003vvf.3	-	12	2862	c.2688G>C	c.(2686-2688)GAG>GAC	p.E896D	HIPK2_uc003vvd.3_Missense_Mutation_p.E869D	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	896	Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity).|Interaction with UBE2I (By similarity).|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).			DTDEEEE->NFNQQQQ: Loss of SUMO and CBX4 interaction, and impaired nuclear and PML-nuclear bodies localization.	apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					GTTCCTCCTCCTCGTCCGTGT	0.612													G	139281492	C	G	139281492	3	3	48	1	0	0	0	0	1	0	0	0	7117	680	24	5	924	5	HIPK2	7	139281492	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1976893	139281492	19857171	326	38343											
CNTNAP2	26047	broad.mit.edu	37	chr7	146741062	146741062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattacagcatccgattattGcccgctatgtgcgcatagtg	9	10	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:146741062G>A	uc003weu.1	+	4	982	c.466G>A	c.(466-468)GCC>ACC	p.A156T		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	156	F5/8 type C.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCCGATTATTGCCCGCTATGT	0.428										HNSCC(39;0.1)			A	146741062	G	A	146741062	3	1	48	1	0	0	0	0	1	0	0	0	3647	1319	46	2	480	2	CNTNAP2	7	146741062	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	7459570	146741062	12397601	327	38344											
CNTNAP2	26047	broad.mit.edu	37	chr7	147844772	147844772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaacagaaggccacacccGcctggagctctacagccagt	9	17	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:147844772G>A	uc003weu.1	+	17	3260	c.2744G>A	c.(2743-2745)CGC>CAC	p.R915H		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	915	Laminin G-like 3.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGCCACACCCGCCTGGAGCTC	0.522										HNSCC(39;0.1)			A	147844772	G	A	147844772	3	1	48	1	0	0	0	0	1	0	0	0	3647	1087	38	1	2810	1	CNTNAP2	7	147844772	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1103710	147844772	11293891	328	38345											
SSPO	23145	broad.mit.edu	37	chr7	149500830	149500830	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggctgccccctgccctgCggctggtcagcctggtcctc	15	17	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:149500830C>T	uc010lpk.2	+	56	8148	c.8148C>T	c.(8146-8148)TGC>TGT	p.C2716C		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2716	TSP type-1 6.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGCCCTGCGGCTGGTCAG	0.687													T	149500830	C	T	149500830	2	4	48	1	0	0	0	0	0	0	0	1	15188	776	27	1		1	SSPO	7	149500830	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1656058	149500830	9637833	329	38346											
GIMAP7	168537	broad.mit.edu	37	chr7	150217082	150217082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggctgagagtgaggaccGctccctgaggatcgttctgg	15	10	1	3	rs145339506		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:150217082G>A	uc003whk.2	+	2	150	c.20G>A	c.(19-21)CGC>CAC	p.R7H		NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	7							GTP binding			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGAGGACCGCTCCCTGAGG	0.493													A	150217082	G	A	150217082	3	1	48	1	0	0	0	0	1	0	0	0	6384	1087	38	1	22	1	GIMAP7	7	150217082	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	716252	150217082	8921581	330	38347											
ASB10	136371	broad.mit.edu	37	chr7	150883931	150883931	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggatgttgaagcggaaatccCtccatcgctctgggtcgctg	13	11	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:150883931C>G	uc003wjm.1	-	1	548	c.422G>C	c.(421-423)AGG>ACG	p.R141T	ASB10_uc003wjl.1_Missense_Mutation_p.R141T|ASB10_uc003wjn.1_Intron	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box-containing 10	96					intracellular signal transduction						0			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGGAAATCCCTCCATCGCTC	0.642													G	150883931	C	G	150883931	3	3	48	1	0	0	0	0	1	0	0	0	1014	681	24	5	1136	5	ASB10	7	150883931	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	666849	150883931	8254732	331	38348											
NUB1	51667	broad.mit.edu	37	chr7	151065014	151065014	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagggatccgaaactatcAcagtggaaatgatgtagagg	12	6	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:151065014A>G	uc003wjx.2	+	10	1132	c.1127A>G	c.(1126-1128)CAC>CGC	p.H376R	NUB1_uc003wjw.2_Missense_Mutation_p.H352R|NUB1_uc010lqc.2_RNA|uc003wjz.1_RNA	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	352					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CGAAACTATCACAGTGGAAAT	0.328											OREG0018452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	151065014	A	G	151065014	3	3	48	1	0	0	0	0	1	0	0	0	10714	159	6	3	1089	3	NUB1	7	151065014	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	181083	151065014	8073649	332	38349											
PRKAG2	51422	broad.mit.edu	37	chr7	151329217	151329217	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggtcccagggccgccgccAgcgccgcctgagggggagga	19	15	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:151329217A>C	uc003wkk.2	-	5	1303	c.692T>G	c.(691-693)CTG>CGG	p.L231R	PRKAG2_uc003wki.2_5'UTR|PRKAG2_uc011kvl.1_Missense_Mutation_p.L107R|PRKAG2_uc003wkj.2_Missense_Mutation_p.L187R|PRKAG2_uc010lqe.1_Intron	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	AMP-activated protein kinase gamma2 subunit	231					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(1)|kidney(1)	2	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		GGCCGCCGCCAGCGCCGCCTG	0.423													C	151329217	A	C	151329217	3	2	48	1	0	0	0	0	1	0	0	0	12501	188	7	5	1065	5	PRKAG2	7	151329217	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	264203	151329217	7809446	333	38350											
CTSB	1508	broad.mit.edu	37	chr8	11703216	11703216	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagttggcaaccagccagtaGggtgtgccattctccactcc	11	13	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:11703216G>T	uc003wum.2	-	11	1200	c.876C>A	c.(874-876)CCC>CCA	p.P292P	CTSB_uc003wul.2_Silent_p.P229P|CTSB_uc011kxl.1_Silent_p.P213P|CTSB_uc003wun.2_Silent_p.P292P|CTSB_uc003wuo.2_Silent_p.P292P|CTSB_uc003wup.2_Silent_p.P292P|CTSB_uc003wuq.2_Silent_p.P292P|CTSB_uc010lsc.2_Silent_p.P168P|CTSB_uc003wur.2_Silent_p.P292P|CTSB_uc003wus.1_Silent_p.P292P|CTSB_uc003wut.1_Silent_p.P292P|CTSB_uc003wuu.2_3'UTR	NM_147780	NP_680090	P07858	CATB_HUMAN	cathepsin B preproprotein	292					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity				0	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CCAGCCAGTAGGGTGTGCCAT	0.577													T	11703216	G	T	11703216	2	4	48	1	0	0	0	0	0	0	0	1	4030	987	35	5		5	CTSB	8	11703216	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08		11703216	134660806	334	38351											
TUSC3	7991	broad.mit.edu	37	chr8	15601103	15601103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagcagcaacttcgaaaggcGatgttggaaaaagacggagt	13	6	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:15601103G>A	uc003wwt.2	+	8	1129	c.919G>A	c.(919-921)GAT>AAT	p.D307N	TUSC3_uc003wwu.2_Missense_Mutation_p.D307N|TUSC3_uc003wwv.2_Missense_Mutation_p.D307N|TUSC3_uc003www.2_Missense_Mutation_p.D307N|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_3'UTR	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	307					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		TTCGAAAGGCGATGTTGGAAA	0.393													A	15601103	G	A	15601103	3	1	48	1	0	0	0	0	1	0	0	0	16775	1058	37	1	949	1	TUSC3	8	15601103	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	3897887	15601103	130762919	335	38352											
NAT2	10	broad.mit.edu	37	chr8	18258064	18258064	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcatctcctgccaaagaAgaaacaccaaaaaatatact	3	11	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:18258064A>C	uc003wyw.1	+	2	658	c.551A>C	c.(550-552)AAG>ACG	p.K184T		NM_000015	NP_000006	P11245	ARY2_HUMAN	N-acetyltransferase 2	184					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			ovary(1)|skin(1)	2				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		CTGCCAAAGAAGAAACACCAA	0.368									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				C	18258064	A	C	18258064	3	2	48	1	0	0	0	0	1	0	0	0	10177	72	3	5	553	5	NAT2	8	18258064	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	2656961	18258064	128105958	336	38353											
ATP6V1B2	526	broad.mit.edu	37	chr8	20072357	20072357	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agccagggaagaggtacctgGtcgacgaggttttccaggtt	15	8	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:20072357G>C	uc003wzp.2	+	10	1170	c.956G>C	c.(955-957)GGT>GCT	p.G319A		NM_001693	NP_001684	P21281	VATB2_HUMAN	vacuolar H+ATPase B2	319					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		GAGGTACCTGGTCGACGAGGT	0.468													C	20072357	G	C	20072357	3	2	48	1	0	0	0	0	1	0	0	0	1179	1261	44	5	994	5	ATP6V1B2	8	20072357	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1814293	20072357	126291665	337	38354											
NEFM	4741	broad.mit.edu	37	chr8	24771944	24771944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcaaagacatcgaggaggCgtcgctggtcaaggtggagc	17	9	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:24771944C>T	uc003xed.3	+	1	671	c.638C>T	c.(637-639)GCG>GTG	p.A213V	NEFM_uc011lac.1_Missense_Mutation_p.A213V|NEFM_uc010lue.2_5'Flank|uc010luc.1_Missense_Mutation_p.A42T	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	213	Rod.|Coil 1B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATCGAGGAGGCGTCGCTGGTC	0.647													T	24771944	C	T	24771944	3	4	48	1	0	0	0	0	1	0	0	0	10316	768	27	1	640	1	NEFM	8	24771944	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	4699587	24771944	121592078	338	38355											
SCARA5	286133	broad.mit.edu	37	chr8	27779236	27779236	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggcggcgcgtgtcctcGctggcgttgctcaccagcac	14	16	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:27779236G>A	uc003xgj.2	-	4	1208	c.768C>T	c.(766-768)AGC>AGT	p.S256S	SCARA5_uc010luz.2_Intron|SCARA5_uc003xgk.2_Silent_p.S213S|SCARA5_uc003xgl.2_Silent_p.S256S	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	256	Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCGTGTCCTCGCTGGCGTTGC	0.706													A	27779236	G	A	27779236	2	1	48	1	0	0	0	0	0	0	0	1	13880	1078	38	1		1	SCARA5	8	27779236	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	3007292	27779236	118584786	339	38356											
FZD3	7976	broad.mit.edu	37	chr8	28385233	28385234	+	Frame_Shift_Ins	INS	-	-	G													ttagcagctgtgccaaagtgINSgggtagtgaagctattgaga							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:28385232_28385233T>TG	uc003xgx.3	+	4	1484_1485	c.955_956T>TG	c.(955-957)tggfs	p.W319fs	FZD3_uc010lvb.3_Frame_Shift_Ins_p.W319fs	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN	Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.	319					G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TGTGCCAAAGTGGGGTAGTGAA	0.421													G	28385234	-	G	28385233	7	5	48	1	0	1	1	0	0	0	0	0	6131	1357	47	0	966	0	FZD3	8	28385233	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	605997	28385233	117978789	340	38357											
KIF13B	23303	broad.mit.edu	37	chr8	28976394	28976394	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttccttacctccccatcAtgctgcttcacaatctgcaa	4	16	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:28976394A>G	uc003xhh.3	-	30	3710	c.3651T>C	c.(3649-3651)CAT>CAC	p.H1217H	uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1217					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCTCCCCATCATGCTGCTTCA	0.463													G	28976394	A	G	28976394	2	3	48	1	0	0	0	0	0	0	0	1	8275	214	8	3		3	KIF13B	8	28976394	Silent	SNP	A	TCGA-BR-7703-01A-11D-2053-08	591161	28976394	117387628	341	38358											
WRN	7486	broad.mit.edu	37	chr8	30915971	30915972	+	Frame_Shift_Ins	INS	-	-	A													gacatttcaaagatgagtgaINSaaaaaaattggaaacaactg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:30915970_30915971G>GA	uc003xio.4	+	1	795_796	c.7_8G>GA	c.(7-9)gaafs	p.E3fs		NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	3	Interaction with WRNIP1 (By similarity).				DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AAAGATGAGTGAAAAAAAATTG	0.356			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				A	30915972	-	A	30915971	7	5	48	1	0	1	1	0	0	0	0	0	17399	246	9	0	10	0	WRN	8	30915971	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	1939577	30915971	115448051	342	38359											
MYST3	7994	broad.mit.edu	37	chr8	41836217	41836217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctattggattagtatagcgcCgttttatctgtgctgccttc	9	9	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:41836217C>T	uc010lxb.2	-	7	1530	c.986G>A	c.(985-987)CGG>CAG	p.R329Q	MYST3_uc010lxc.2_Missense_Mutation_p.R329Q|MYST3_uc003xon.3_Missense_Mutation_p.R329Q|MYST3_uc010lxd.2_Missense_Mutation_p.R329Q	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	329	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			AGTATAGCGCCGTTTTATCTG	0.388													T	41836217	C	T	41836217	3	4	48	1	0	0	0	0	1	0	0	0	10104	652	23	1	5076	1	MYST3	8	41836217	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	10920246	41836217	104527805	343	38360											
MYST3	7994	broad.mit.edu	37	chr8	41839431	41839431	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaccgtaaggccttcactcGaaccgttagttcaggggaaa	10	12	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:41839431G>A	uc010lxb.2	-	5	1295	c.751C>T	c.(751-753)CGA>TGA	p.R251*	MYST3_uc010lxc.2_Nonsense_Mutation_p.R251*|MYST3_uc003xon.3_Nonsense_Mutation_p.R251*|MYST3_uc010lxd.2_Nonsense_Mutation_p.R251*	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	251	PHD-type 1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			GCCTTCACTCGAACCGTTAGT	0.428													A	41839431	G	A	41839431	4	1	48	1	0	0	0	0	0	1	0	0	10104	1066	37	1	5319	1	MYST3	8	41839431	Nonsense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	3214	41839431	104524591	344	38361											
XKR4	114786	broad.mit.edu	37	chr8	56270311	56270312	+	Frame_Shift_Ins	INS	-	-	A													cagatggaggttttactggaINSaaatggtatatgagtatgcg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:56270310_56270311G>GA	uc003xsf.3	+	1	911_912	c.879_880G>GA	c.(877-882)tggaaafs	p.W293fs		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	293						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GGTTTTACTGGAAAATGGTATA	0.426													A	56270312	-	A	56270311	7	5	48	1	0	1	1	0	0	0	0	0	17430	247	9	0	886	0	XKR4	8	56270311	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	14430880	56270311	90093711	345	38362											
PLAG1	5324	broad.mit.edu	37	chr8	57080658	57080658	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttgtagggcctctctccTgtgtgagagtaggagtgaac	13	9	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:57080658T>C	uc003xsq.3	-	2	622	c.171A>G	c.(169-171)ACA>ACG	p.T57T	PLAG1_uc003xsr.3_Silent_p.T57T|PLAG1_uc010lyi.2_Silent_p.T57T|PLAG1_uc010lyj.2_Intron	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	57	Interacts with KPNA2.|Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GCCTCTCTCCTGTGTGAGAGT	0.398			T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma								C	57080658	T	C	57080658	2	2	48	1	0	0	0	0	0	0	0	1	12018	1567	55	3		3	PLAG1	8	57080658	Silent	SNP	T	TCGA-BR-7703-01A-11D-2053-08	810347	57080658	89283364	346	38363											
CYP7B1	9420	broad.mit.edu	37	chr8	65527633	65527633	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tggtgaggtggatgggaaatCcagaccctttcttttgacct	12	8	1	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:65527633C>A	uc003xvj.2	-	4	1211	c.1007G>T	c.(1006-1008)GGA>GTA	p.G336V		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	336					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GATGGGAAATCCAGACCCTTT	0.448													A	65527633	C	A	65527633	3	1	48	1	0	0	0	0	1	0	0	0	4197	855	30	5	525	5	CYP7B1	8	65527633	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	8446975	65527633	80836389	347	38364											
PREX2	80243	broad.mit.edu	37	chr8	69030870	69030870	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgtatttccacagtgatgaaAtggactcaggtgtgttcgtt	11	7	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:69030870A>T	uc003xxv.1	+	27	3439	c.3412A>T	c.(3412-3414)ATG>TTG	p.M1138L		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1138					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CAGTGATGAAATGGACTCAGG	0.433													T	69030870	A	T	69030870	3	4	48	1	0	0	0	0	1	0	0	0	12477	101	4	5	3747	5	PREX2	8	69030870	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	3503237	69030870	77333152	348	38365											
SULF1	23213	broad.mit.edu	37	chr8	70476305	70476305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagatccccgaggttcagagGacggatacagcaggaacgaa	13	10	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:70476305G>A	uc010lza.1	+	5	812	c.95G>A	c.(94-96)GGA>GAA	p.G32E	SULF1_uc003xyd.2_Missense_Mutation_p.G32E|SULF1_uc003xye.2_Missense_Mutation_p.G32E|SULF1_uc003xyf.2_Missense_Mutation_p.G32E|SULF1_uc003xyg.2_Missense_Mutation_p.G32E	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	32					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AGGTTCAGAGGACGGATACAG	0.483													A	70476305	G	A	70476305	3	1	48	1	0	0	0	0	1	0	0	0	15369	1174	41	4	97	4	SULF1	8	70476305	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1445435	70476305	75887717	349	38366											
STAU2	27067	broad.mit.edu	37	chr8	74515987	74515987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaaattctcgacgtcgagGcattcctctttctgaaagca	7	12	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:74515987G>A	uc003xzm.2	-	10	1239	c.1003C>T	c.(1003-1005)CCT>TCT	p.P335S	STAU2_uc011lfg.1_Missense_Mutation_p.P163S|STAU2_uc003xzn.2_Missense_Mutation_p.P303S|STAU2_uc011lfh.1_Missense_Mutation_p.P231S|STAU2_uc003xzo.2_Missense_Mutation_p.P335S|STAU2_uc003xzp.2_Missense_Mutation_p.P303S|STAU2_uc011lfi.1_Missense_Mutation_p.P297S|STAU2_uc003xzq.2_Missense_Mutation_p.P115S|STAU2_uc010lzk.2_Missense_Mutation_p.P303S|STAU2_uc010lzl.1_Missense_Mutation_p.P163S	NM_014393	NP_055208	Q9NUL3	STAU2_HUMAN	staufen homolog 2 isoform e	335	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding				0	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			CGACGTCGAGGCATTCCTCTT	0.433													A	74515987	G	A	74515987	3	1	48	1	0	0	0	0	1	0	0	0	15272	1203	42	2	857	2	STAU2	8	74515987	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	4039682	74515987	71848035	350	38367											
DPY19L4	286148	broad.mit.edu	37	chr8	95751977	95751977	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttatgagtggaacatgGctagcaggaatgcttactgt	13	6	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:95751977G>A	uc003ygx.2	+	6	694	c.570G>A	c.(568-570)TGG>TGA	p.W190*	DPY19L4_uc003ygy.2_Nonsense_Mutation_p.W127*	NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	dpy-19-like 4	190	Helical; (Potential).					integral to membrane				ovary(2)	2	Breast(36;3.85e-06)					GTGGAACATGGCTAGCAGGAA	0.343													A	95751977	G	A	95751977	4	1	48	1	0	0	0	0	0	1	0	0	4743	1212	42	2	592	2	DPY19L4	8	95751977	Nonsense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	21235990	95751977	50612045	351	38368											
RIMS2	9699	broad.mit.edu	37	chr8	105161049	105161049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttggtctgtcacggaaaagtCgcagtgcttctcagctcagc	11	11	4	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:105161049C>T	uc003yls.2	+	23	3602	c.3361C>T	c.(3361-3363)CGC>TGC	p.R1121C	RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.R1110C|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1160					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACGGAAAAGTCGCAGTGCTTC	0.453										HNSCC(12;0.0054)			T	105161049	C	T	105161049	3	4	48	1	0	0	0	0	1	0	0	0	13368	899	31	1		1	RIMS2	8	105161049	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	9409072	105161049	41202973	352	38369											
TM7SF4	81501	broad.mit.edu	37	chr8	105361503	105361503	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgggcccttgtggttggaaGtatgaaaacatctacatcac	10	8	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:105361503G>T	uc003ylx.1	+	2	772	c.723G>T	c.(721-723)AAG>AAT	p.K241N		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	241					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTGGTTGGAAGTATGAAAACA	0.502													T	105361503	G	T	105361503	3	4	48	1	0	0	0	0	1	0	0	0	15973	1020	36	5	725	5	TM7SF4	8	105361503	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	200454	105361503	41002519	353	38370											
ZHX1	11244	broad.mit.edu	37	chr8	124265762	124265762	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgacctgctcatagcccaTatgtgatttgttaacaagtt	7	9	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:124265762T>C	uc003yqe.2	-	3	2855	c.2425A>G	c.(2425-2427)ATG>GTG	p.M809V	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.M809V|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.M809V	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	809	Homeobox 5.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TCATAGCCCATATGTGATTTG	0.348													C	124265762	T	C	124265762	3	2	48	1	0	0	0	0	1	0	0	0	17672	1406	49	3	200	3	ZHX1	8	124265762	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	18904259	124265762	22098260	354	38371											
FER1L6	654463	broad.mit.edu	37	chr8	125083798	125083798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctagctctgaggacagcGggcagctgagaatccagcaa	12	10	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:125083798G>A	uc003yqw.2	+	31	4224	c.4018G>A	c.(4018-4020)GGG>AGG	p.G1340R	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1340	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGAGGACAGCGGGCAGCTGAG	0.517													A	125083798	G	A	125083798	3	1	48	1	0	0	0	0	1	0	0	0	5815	1116	39	1	4136	1	FER1L6	8	125083798	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	818036	125083798	21280224	355	38372											
TG	7038	broad.mit.edu	37	chr8	133898733	133898733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgaaaggcagcaggccttGtccagactctactttgggac	11	12	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:133898733G>A	uc003ytw.2	+	9	1157	c.1116G>A	c.(1114-1116)TTG>TTA	p.L372L		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	372					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCAGGCCTTGTCCAGACTCT	0.502													A	133898733	G	A	133898733	2	1	48	1	0	0	0	0	0	0	0	1	15810	1368	48	4		4	TG	8	133898733	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	8814935	133898733	12465289	356	38373											
WISP1	8840	broad.mit.edu	37	chr8	134239730	134239730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgggctgcatcagcacacGctcctatcaacccaagtact	8	15	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:134239730G>A	uc003yub.2	+	5	957	c.881G>A	c.(880-882)CGC>CAC	p.R294H	WISP1_uc003yuc.2_Missense_Mutation_p.R207H|WISP1_uc010meb.2_Missense_Mutation_p.R122H|WISP1_uc010mec.2_Silent_p.T142T|WISP1_uc010med.2_Missense_Mutation_p.R49H|WISP1_uc003yud.2_RNA	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	294	CTCK.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ATCAGCACACGCTCCTATCAA	0.522													A	134239730	G	A	134239730	3	1	48	1	0	0	0	0	1	0	0	0	17369	1087	38	1	899	1	WISP1	8	134239730	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	340997	134239730	12124292	357	38374											
FAM135B	51059	broad.mit.edu	37	chr8	139151232	139151232	+	Frame_Shift_Del	DEL	T	T	-													tgggggaaaccactgacctgTtttttggcttagttggtaga							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:139151231_139151231GT>G	uc003yuy.3	-	17	4070	c.3899_3899AC>C	c.(3898-3900)acafs	p.T1300fs	FAM135B_uc003yux.3_Frame_Shift_Del_p.T1201fs|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1300								p.T1300R(3)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCACTGACCTGTTTTTTGGCT	0.443										HNSCC(54;0.14)			-	139151232	T	-	139151232	7	5	48	1	0	1	0	1	0	0	0	0	5449	1725	60	0	334	0	FAM135B	8	139151232	Frame_Shift_Del	DEL	T	TCGA-BR-7703-01A-11D-2053-08	4911502	139151232	7212790	358	38375											
KCNK9	51305	broad.mit.edu	37	chr8	140631311	140631311	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatgcagaaggccttgccCgcatcggtgccaggtgcagc	13	13	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:140631311C>T	uc003yvf.1	-	2	379	c.315G>A	c.(313-315)GCG>GCA	p.A105A	KCNK9_uc003yvg.1_Silent_p.A105A|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	105	Extracellular (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			AGGCCTTGCCCGCATCGGTGC	0.612													T	140631311	C	T	140631311	2	4	48	1	0	0	0	0	0	0	0	1	8072	639	23	1		1	KCNK9	8	140631311	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1480079	140631311	5732711	359	38376											
FLJ43860	389690	broad.mit.edu	37	chr8	142500242	142500242	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacaggacgcccatcacGtagaggaggcttctgtgtgg	16	9	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:142500242G>A	uc003ywi.2	-	5	753	c.672C>T	c.(670-672)TAC>TAT	p.Y224Y	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	224							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGCCCATCACGTAGAGGAGGC	0.637													A	142500242	G	A	142500242	2	1	48	1	0	0	0	0	0	0	0	1	5930	1140	40	1		1	FLJ43860	8	142500242	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1868931	142500242	3863780	360	38377											
EPPK1	83481	broad.mit.edu	37	chr8	144941378	144941378	+	Frame_Shift_Del	DEL	C	C	-													ggtgctgtgggtcgatgacaCcccccgtggccacctgcacc							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:144941378delC	uc003zaa.1	-	1	6057	c.6044delG	c.(6043-6045)GGTfs	p.G2015fs		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	2015	Plectin 34.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCGATGACACCCCCCGTGGC	0.622													-	144941378	C	-	144941378	7	5	48	1	0	1	0	1	0	0	0	0	5190	507	18	0	1222	0	EPPK1	8	144941378	Frame_Shift_Del	DEL	C	TCGA-BR-7703-01A-11D-2053-08	2441136	144941378	1422644	361	38378											
PLEC	5339	broad.mit.edu	37	chr8	144995352	144995352	+	Frame_Shift_Del	DEL	C	C	-													tccgtgagtggcagaaggcaCaggcccgtctcggggtcctc							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:144995351_144995351AC>A	uc003zaf.1	-	31	9219	c.9049_9049GT>T	c.(9049-9051)tgcfs	p.C3017fs	PLEC_uc003zab.1_Frame_Shift_Del_p.C2880fs|PLEC_uc003zac.1_Frame_Shift_Del_p.C2884fs|PLEC_uc003zad.2_Frame_Shift_Del_p.C2880fs|PLEC_uc003zae.1_Frame_Shift_Del_p.C2848fs|PLEC_uc003zag.1_Frame_Shift_Del_p.C2858fs|PLEC_uc003zah.2_Frame_Shift_Del_p.C2866fs|PLEC_uc003zaj.2_Frame_Shift_Del_p.C2907fs	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3017	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGCAGAAGGCACAGGCCCGTC	0.642													-	144995352	C	-	144995352	7	5	48	1	0	1	0	1	0	0	0	0	12052	465	17	0	5010	0	PLEC	8	144995352	Frame_Shift_Del	DEL	C	TCGA-BR-7703-01A-11D-2053-08	53974	144995352	1368670	362	38379											
OPLAH	26873	broad.mit.edu	37	chr8	145113719	145113720	+	Frame_Shift_Del	DEL	GA	GA	-													agccaggctgcggatgcctcGagatagcagcccctccagct							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:145113719_145113720delGA	uc003zar.3	-	5	625_626	c.543_544delTC	c.(541-546)TCTCGAfs	p.S181fs	OPLAH_uc003zat.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	181_182							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CGGATGCCTCGAGATAGCAGCC	0.678													-	145113720	GA	-	145113719	7	5	48	1	0	1	0	1	0	0	0	0	10876	1066	37	0	3416	0	OPLAH	8	145113719	Frame_Shift_Del	DEL	GA	TCGA-BR-7703-01A-11D-2053-08	118367	145113719	1250303	363	38380											
SCRT1	83482	broad.mit.edu	37	chr8	145557213	145557213	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggacacgtacaccttgccGcacgtcgggcagcgccgcgc	13	16	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:145557213G>A	uc003zbw.1	-	2	793	c.681C>T	c.(679-681)TGC>TGT	p.C227C		NM_031309	NP_112599	Q9BWW7	SCRT1_HUMAN	scratch	227	C2H2-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			ACACCTTGCCGCACGTCGGGC	0.682													A	145557213	G	A	145557213	2	1	48	1	0	0	0	0	0	0	0	1	13941	1079	38	1		1	SCRT1	8	145557213	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	443494	145557213	806809	364	38381											
DOCK8	81704	broad.mit.edu	37	chr9	332438	332438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagagattggagactgtgCagagccctacacggttatca	14	8	1	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:332438C>T	uc003zgf.2	+	10	1197	c.1085C>T	c.(1084-1086)GCA>GTA	p.A362V	DOCK8_uc011lls.1_Missense_Mutation_p.A362V|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.A294V|DOCK8_uc003zgg.2_Missense_Mutation_p.A294V|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	362	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGAGACTGTGCAGAGCCCTAC	0.328													T	332438	C	T	332438	3	4	48	1	0	0	0	0	1	0	0	0	4693	710	25	2	1123	2	DOCK8	9	332438	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08		332438	140880993	365	38382											
DDX58	23586	broad.mit.edu	37	chr9	32526164	32526164	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcgctgctcggtggtcaTgccggcctctgcttgcagct	14	14	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:32526164T>C	uc003zra.2	-	1	159	c.1A>G	c.(1-3)ATG>GTG	p.M1V	DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Missense_Mutation_p.M1V|DDX58_uc011lnr.1_5'UTR	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	1	CARD 1.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TCGGTGGTCATGCCGGCCTCT	0.612													C	32526164	T	C	32526164	3	2	48	1	0	0	0	0	1	0	0	0	4375	1464	51	3	2848	3	DDX58	9	32526164	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	32193726	32526164	108687267	366	38383											
ZBTB5	9925	broad.mit.edu	37	chr9	37440593	37440593	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcttatacaggtggctggaCtgactaaacctcttgccaca	9	11	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:37440593C>G	uc003zzx.2	-	2	2156	c.1956G>C	c.(1954-1956)CAG>CAC	p.Q652H		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	652	C2H2-type 2; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		GGTGGCTGGACTGACTAAACC	0.488													G	37440593	C	G	37440593	3	3	48	1	0	0	0	0	1	0	0	0	17548	564	20	5	81	5	ZBTB5	9	37440593	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	4914429	37440593	103772838	367	38384											
TMC1	117531	broad.mit.edu	37	chr9	75387335	75387335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttggatttcagggtttgGcacaatattccgttctcttt	9	7	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:75387335G>A	uc004aiz.1	+	13	1288	c.748G>A	c.(748-750)GCA>ACA	p.A250T	TMC1_uc010moz.1_Missense_Mutation_p.A208T|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.A104T|TMC1_uc010mpa.1_Missense_Mutation_p.A104T	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	250	Extracellular (Potential).				sensory perception of sound	integral to membrane				ovary(1)	1						TCAGGGTTTGGCACAATATTC	0.368													A	75387335	G	A	75387335	3	1	48	1	0	0	0	0	1	0	0	0	15981	1203	42	2	782	2	TMC1	9	75387335	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	37946742	75387335	65826096	368	38385											
TLE4	7091	broad.mit.edu	37	chr9	82323572	82323572	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actccatttgggattgtgccCcatgctggaatgaacggaga	12	9	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:82323572C>A	uc004ald.2	+	14	2058	c.1209C>A	c.(1207-1209)CCC>CCA	p.P403P	TLE4_uc004alc.2_Silent_p.P378P|TLE4_uc010mpr.2_Silent_p.P257P|TLE4_uc004ale.2_Silent_p.P15P|TLE4_uc011lsq.1_Silent_p.P346P|TLE4_uc010mps.2_Silent_p.P302P|TLE4_uc004alf.2_Silent_p.P317P	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						GGATTGTGCCCCATGCTGGAA	0.488													A	82323572	C	A	82323572	2	1	48	1	0	0	0	0	0	0	0	1	15938	610	22	5		5	TLE4	9	82323572	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	6936237	82323572	58889859	369	38386											
AGTPBP1	23287	broad.mit.edu	37	chr9	88190328	88190328	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcagtcttttcaaacgTaaaagaccaacacaaaattt	6	8	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:88190328T>C	uc011ltd.1	-	24	3438	c.3405A>G	c.(3403-3405)TTA>TTG	p.L1135L	AGTPBP1_uc004aod.3_Silent_p.L761L|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Silent_p.L1095L|AGTPBP1_uc011lte.1_Silent_p.L1147L	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1135					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						TTTTCAAACGTAAAAGACCAA	0.358													C	88190328	T	C	88190328	2	2	48	1	0	0	0	0	0	0	0	1	400	1635	57	3		3	AGTPBP1	9	88190328	Silent	SNP	T	TCGA-BR-7703-01A-11D-2053-08	5866756	88190328	53023103	370	38387											
ROR2	4920	broad.mit.edu	37	chr9	94493197	94493197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagagaatacatactacacGagggtacgtcacacagttcc	9	10	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:94493197G>A	uc004arj.1	-	7	1377	c.1178C>T	c.(1177-1179)TCG>TTG	p.S393L	ROR2_uc004ari.1_Missense_Mutation_p.S253L|ROR2_uc004ark.2_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	393	Extracellular (Potential).|Kringle.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						CATACTACACGAGGGTACGTC	0.532													A	94493197	G	A	94493197	3	1	48	1	0	0	0	0	1	0	0	0	13527	1059	37	1	1665	1	ROR2	9	94493197	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	6302869	94493197	46720234	371	38388											
ASPN	54829	broad.mit.edu	37	chr9	95219673	95219673	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgggttgttgaataaacttAttgcactgtataaagatttc	8	6	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:95219673A>G	uc004ase.1	-	8	1284	c.1040T>C	c.(1039-1041)ATA>ACA	p.I347T	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ASPN_uc010mqy.1_3'UTR	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN	asporin precursor	347	LRR 10.				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding				0						GAATAAACTTATTGCACTGTA	0.388													G	95219673	A	G	95219673	3	3	48	1	0	0	0	0	1	0	0	0	1057	449	16	3	106	3	ASPN	9	95219673	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	726476	95219673	45993758	372	38389											
ZNF484	83744	broad.mit.edu	37	chr9	95609710	95609710	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctgatgcacatggagttgTgattttttaataaaggattt	10	4	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:95609710T>C	uc004asu.1	-	5	1508	c.1359A>G	c.(1357-1359)TCA>TCG	p.S453S	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Silent_p.S455S|ZNF484_uc010mrb.1_Silent_p.S417S|ZNF484_uc004asv.1_Silent_p.S417S	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	453	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CATGGAGTTGTGATTTTTTAA	0.383													C	95609710	T	C	95609710	2	2	48	1	0	0	0	0	0	0	0	1	17934	1683	59	3		3	ZNF484	9	95609710	Silent	SNP	T	TCGA-BR-7703-01A-11D-2053-08	390037	95609710	45603721	373	38390											
SUSD3	203328	broad.mit.edu	37	chr9	95838255	95838255	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtccccagtgtgcaaacGtaaggacccctctctcagct	10	14	2	0	rs141762113	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:95838255G>A	uc004atb.2	+	2	313	c.277_splice	c.e2+1	p.L93_splice	SUSD3_uc004atc.2_Splice_Site_p.L80_splice	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN	sushi domain containing 3							integral to membrane				breast(2)|skin(2)|ovary(1)|lung(1)	6						GTGTGCAAACGTAAGGACCCC	0.637													A	95838255	G	A	95838255	5	1	48	1	0	0	0	0	0	0	1	0	15406	1159	40	1	284	1	SUSD3	9	95838255	Splice_Site	SNP	G	TCGA-BR-7703-01A-11D-2053-08	228545	95838255	45375176	374	38391											
PTCH1	5727	broad.mit.edu	37	chr9	98244469	98244469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgatttgtaacacaaatGttccaatttccactgcctaa	4	11	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:98244469G>A	uc004avk.3	-	4	789	c.601C>T	c.(601-603)CAT>TAT	p.H201Y	PTCH1_uc010mro.2_Missense_Mutation_p.H50Y|PTCH1_uc010mrp.2_Missense_Mutation_p.H50Y|PTCH1_uc010mrq.2_Missense_Mutation_p.H50Y|PTCH1_uc004avl.3_Missense_Mutation_p.H50Y|PTCH1_uc010mrr.2_Missense_Mutation_p.H135Y|PTCH1_uc004avm.3_Missense_Mutation_p.H200Y|PTCH1_uc010mrs.1_5'Flank|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_Intron|PTCH1_uc004avo.2_Missense_Mutation_p.H135Y|PTCH1_uc010mrv.1_RNA	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	201	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TAACACAAATGTTCCAATTTC	0.284									Basal_Cell_Nevus_syndrome				A	98244469	G	A	98244469	3	1	48	1	0	0	0	0	1	0	0	0	12730	1377	48	4	3822	4	PTCH1	9	98244469	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2406214	98244469	42968962	375	38392											
C9orf156	51531	broad.mit.edu	37	chr9	100678467	100678467	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacatgagaaaactgttctAggcccatcaaggaatgttca	8	8	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:100678467A>G	uc004axv.1	-	2	307	c.230T>C	c.(229-231)CTA>CCA	p.L77P	C9orf156_uc004axw.1_5'UTR|C9orf156_uc004axx.1_5'UTR|C9orf156_uc010msq.1_5'UTR	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN	Nef associated protein 1	77					interspecies interaction between organisms		hydrolase activity				0		Acute lymphoblastic leukemia(62;0.158)				AAACTGTTCTAGGCCCATCAA	0.408													G	100678467	A	G	100678467	3	3	48	1	0	0	0	0	1	0	0	0	2465	420	15	3	1111	3	C9orf156	9	100678467	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	2433998	100678467	40534964	376	38393											
ANKS6	203286	broad.mit.edu	37	chr9	101547146	101547146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggaaaatatcaggtcgcCttttctcctcatctgggtaa	8	10	4	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:101547146C>T	uc004ayu.2	-	3	896	c.875G>A	c.(874-876)AGG>AAG	p.R292K	ANKS6_uc004ayt.2_5'UTR|ANKS6_uc004ayx.1_5'Flank|ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	292	ANK 8.									ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				ATCAGGTCGCCTTTTCTCCTC	0.353													T	101547146	C	T	101547146	3	4	48	1	0	0	0	0	1	0	0	0	692	681	24	4	1792	4	ANKS6	9	101547146	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	868679	101547146	39666285	377	38394											
COL15A1	1306	broad.mit.edu	37	chr9	101747954	101747954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcccggcctacagtttcGggcctggtgccaatgttggc	13	13	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:101747954G>A	uc004azb.1	+	3	414	c.208G>A	c.(208-210)GGG>AGG	p.G70R	COL15A1_uc004aza.2_Missense_Mutation_p.G70R	NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	70	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				CTACAGTTTCGGGCCTGGTGC	0.627													A	101747954	G	A	101747954	3	1	48	1	0	0	0	0	1	0	0	0	3672	1116	39	1	218	1	COL15A1	9	101747954	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	200808	101747954	39465477	378	38395											
ACTL7A	10881	broad.mit.edu	37	chr9	111625036	111625036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatcgtggactgggataCagtgcaggatatctgggaat	13	7	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:111625036C>T	uc004bdj.1	+	1	434	c.434C>T	c.(433-435)ACA>ATA	p.T145I		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	145						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0						GACTGGGATACAGTGCAGGAT	0.532													T	111625036	C	T	111625036	3	4	48	1	0	0	0	0	1	0	0	0	200	478	17	4	436	4	ACTL7A	9	111625036	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	9877082	111625036	29588395	379	38396											
PTPN3	5774	broad.mit.edu	37	chr9	112207536	112207536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacattgtacggcataggaCgctagaaccactgctgagtt	10	9	0	2	rs150667989	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:112207536C>T	uc004bed.2	-	7	562	c.450G>A	c.(448-450)GCG>GCA	p.A150A	PTPN3_uc004beb.2_Silent_p.A19A|PTPN3_uc004bec.2_Silent_p.A19A|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.A150A|PTPN3_uc011lwh.1_Silent_p.A41A	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	150	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						CGGCATAGGACGCTAGAACCA	0.453													T	112207536	C	T	112207536	2	4	48	1	0	0	0	0	0	0	0	1	12789	523	19	1		1	PTPN3	9	112207536	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	582500	112207536	29005895	380	38397											
SVEP1	79987	broad.mit.edu	37	chr9	113245948	113245948	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgggaggtggagatctgcaCcagtctatgacaggtggttc	15	8	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:113245948C>A	uc010mtz.2	-	10	2293	c.1956G>T	c.(1954-1956)TGG>TGT	p.W652C	SVEP1_uc010mua.1_Missense_Mutation_p.W652C|SVEP1_uc004beu.2_Missense_Mutation_p.W652C	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	652	HYR 2.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GAGATCTGCACCAGTCTATGA	0.483													A	113245948	C	A	113245948	3	1	48	1	0	0	0	0	1	0	0	0	15417	508	18	5	8915	5	SVEP1	9	113245948	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1038412	113245948	27967483	381	38398											
PTGR1	22949	broad.mit.edu	37	chr9	114345823	114345823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaaccatcactgtttctcCacccttcacaccacagattt	2	15	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:114345823C>T	uc004bfh.2	-	6	527	c.424G>A	c.(424-426)GGA>AGA	p.G142R	PTGR1_uc011lwr.1_Missense_Mutation_p.G142R|PTGR1_uc004bfi.3_Missense_Mutation_p.G142R|PTGR1_uc004bfj.3_Missense_Mutation_p.G19R|PTGR1_uc010mue.2_Missense_Mutation_p.G142R	NM_012212	NP_036344	Q14914	PTGR1_HUMAN	prostaglandin reductase 1 isoform 1	142					leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding				0						ACTGTTTCTCCACCCTTCACA	0.448													T	114345823	C	T	114345823	3	4	48	1	0	0	0	0	1	0	0	0	12753	603	21	4	616	4	PTGR1	9	114345823	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1099875	114345823	26867608	382	38399											
ZNF618	114991	broad.mit.edu	37	chr9	116750765	116750765	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatctggcagggcgaggccaAggaggagaagaaggcggtca	19	7	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:116750765A>G	uc004bid.2	+	3	341	c.242A>G	c.(241-243)AAG>AGG	p.K81R	ZNF618_uc004bib.1_Missense_Mutation_p.K81R|ZNF618_uc004bic.2_Missense_Mutation_p.K81R|ZNF618_uc011lxi.1_Missense_Mutation_p.K81R|ZNF618_uc011lxj.1_Missense_Mutation_p.K81R	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGCGAGGCCAAGGAGGAGAAG	0.627													G	116750765	A	G	116750765	3	3	48	1	0	0	0	0	1	0	0	0	18039	72	3	3	252	3	ZNF618	9	116750765	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	2404942	116750765	24462666	383	38400											
PAPPA	5069	broad.mit.edu	37	chr9	119130012	119130012	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgtgacatcccccactgGctgaaccccacacgggtaga	11	15	0	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:119130012G>A	uc004bjn.2	+	19	4965	c.4584G>A	c.(4582-4584)TGG>TGA	p.W1528*	PAPPA_uc011lxq.1_Nonsense_Mutation_p.W903*	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1528	Sushi 5.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						TCCCCCACTGGCTGAACCCCA	0.512													A	119130012	G	A	119130012	4	1	48	1	0	0	0	0	0	1	0	0	11432	1212	42	2	4658	2	PAPPA	9	119130012	Nonsense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2379247	119130012	22083419	384	38401											
DAB2IP	153090	broad.mit.edu	37	chr9	124532938	124532938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgacctggcctccacaccGggctctggcagcagcagcat	11	15	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:124532938G>A	uc004bln.2	+	11	1998	c.1929G>A	c.(1927-1929)CCG>CCA	p.P643P	DAB2IP_uc004blo.2_Silent_p.P547P|DAB2IP_uc004blp.2_Silent_p.P98P	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	671					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2						CCTCCACACCGGGCTCTGGCA	0.622													A	124532938	G	A	124532938	2	1	48	1	0	0	0	0	0	0	0	1	4219	1103	39	1		1	DAB2IP	9	124532938	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	5402926	124532938	16680493	385	38402											
ZBTB6	10773	broad.mit.edu	37	chr9	125673938	125673938	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgacacaggtcagtgtgTtggttgttgtttttcataga	12	5	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:125673938T>C	uc004bnh.2	-	2	503	c.414A>G	c.(412-414)CAA>CAG	p.Q138Q		NM_006626	NP_006617	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGTCAGTGTGTTGGTTGTTGT	0.373													C	125673938	T	C	125673938	2	2	48	1	0	0	0	0	0	0	0	1	17549	1722	60	3		3	ZBTB6	9	125673938	Silent	SNP	T	TCGA-BR-7703-01A-11D-2053-08	1141000	125673938	15539493	386	38403											
TBC1D13	54662	broad.mit.edu	37	chr9	131568559	131568559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggagcagttgctggaagGggacttcactgtgaatatgc	15	8	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:131568559G>A	uc010myj.2	+	11	1229	c.1106G>A	c.(1105-1107)GGG>GAG	p.G369E	TBC1D13_uc010myk.2_Missense_Mutation_p.G244E|TBC1D13_uc010myl.2_Missense_Mutation_p.G188E	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	369						intracellular	Rab GTPase activator activity				0						TTGCTGGAAGGGGACTTCACT	0.627													A	131568559	G	A	131568559	3	1	48	1	0	0	0	0	1	0	0	0	15599	1232	43	4	1148	4	TBC1D13	9	131568559	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	5894621	131568559	9644872	387	38404											
BAT2L1	84726	broad.mit.edu	37	chr9	134322525	134322525	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtggaacgaggctctttTccccttcctcagctccgcct	8	16	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:134322525T>C	uc004can.3	+	7	964	c.909T>C	c.(907-909)TTT>TTC	p.F303F	BAT2L1_uc010mzj.1_5'Flank|BAT2L1_uc004cam.1_Silent_p.F303F	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	303							protein binding				0						GAGGCTCTTTTCCCCTTCCTC	0.473													C	134322525	T	C	134322525	2	2	48	1	0	0	0	0	0	0	0	1	1320	1780	62	3		3	BAT2L1	9	134322525	Silent	SNP	T	TCGA-BR-7703-01A-11D-2053-08	2753966	134322525	6890906	388	38405											
GFI1B	8328	broad.mit.edu	37	chr9	135862760	135862760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaacctcaaacgagagccGgagctggagcaggaccagaa	12	12	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:135862760G>A	uc004ccg.2	+	3	343	c.192G>A	c.(190-192)CCG>CCA	p.P64P	GFI1B_uc010mzy.2_Silent_p.P64P	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription	64					cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		AACGAGAGCCGGAGCTGGAGC	0.617													A	135862760	G	A	135862760	2	1	48	1	0	0	0	0	0	0	0	1	6340	1103	39	1		1	GFI1B	9	135862760	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1540235	135862760	5350671	389	38406											
SARDH	1757	broad.mit.edu	37	chr9	136597638	136597638	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgtgtgtagtcccgtctcCtcctccagctcccggctcac	8	20	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:136597638C>A	uc004cep.3	-	3	551	c.417G>T	c.(415-417)GAG>GAT	p.E139D	SARDH_uc004ceo.2_Missense_Mutation_p.E139D|SARDH_uc011mdn.1_Missense_Mutation_p.E139D|SARDH_uc011mdo.1_Translation_Start_Site	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	139					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTCCCGTCTCCTCCTCCAGCT	0.672													A	136597638	C	A	136597638	3	1	48	1	0	0	0	0	1	0	0	0	13841	680	24	5	2415	5	SARDH	9	136597638	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	734878	136597638	4615793	390	38407											
WDR5	11091	broad.mit.edu	37	chr9	137019598	137019598	+	Frame_Shift_Del	DEL	C	C	-													tttattgcagatgacgacaaCccccccgtgtcttttgtgaa							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:137019597_137019597AC>A	uc004cey.3	+	9	812	c.641_641AC>A	c.(640-642)aacfs	p.N214fs	WDR5_uc004cez.3_Frame_Shift_Del_p.N214fs	NM_017588	NP_438172	P61964	WDR5_HUMAN	Homo sapiens WD repeat domain 5 (WDR5), transcript variant 1, mRNA.	214					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		GATGACGACAACCCCCCCGTG	0.627													-	137019598	C	-	137019598	7	5	48	1	0	1	0	1	0	0	0	0	17300	506	18	0	676	0	WDR5	9	137019598	Frame_Shift_Del	DEL	C	TCGA-BR-7703-01A-11D-2053-08	421960	137019598	4193833	391	38408											
RXRA	6256	broad.mit.edu	37	chr9	137328340	137328340	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctcttgctccgcctgccGgctctgcgctccatcgggct	11	17	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:137328340G>A	uc004cfb.2	+	10	1431	c.1269G>A	c.(1267-1269)CCG>CCA	p.P423P	RXRA_uc004cfc.1_Silent_p.P326P	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	423	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	TCCGCCTGCCGGCTCTGCGCT	0.607													A	137328340	G	A	137328340	2	1	48	1	0	0	0	0	0	0	0	1	13763	1103	39	1		1	RXRA	9	137328340	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	308742	137328340	3885091	392	38409											
CAMSAP1	157922	broad.mit.edu	37	chr9	138713536	138713536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagctcgtgcagagccaCagggtcttttgctttatgtt	10	11	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:138713536C>T	uc004cgr.3	-	11	2971	c.2971G>A	c.(2971-2973)GTG>ATG	p.V991M	CAMSAP1_uc004cgq.3_Missense_Mutation_p.V881M|CAMSAP1_uc010nbg.2_Missense_Mutation_p.V713M	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	991						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGCAGAGCCACAGGGTCTTTT	0.537													T	138713536	C	T	138713536	3	4	48	1	0	0	0	0	1	0	0	0	2611	478	17	4	1865	4	CAMSAP1	9	138713536	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1385196	138713536	2499895	393	38410											
SLC34A3	142680	broad.mit.edu	37	chr9	140127502	140127502	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatcatgggtgtcaacgtAggcacatccatcaccagcac	8	13	4	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:140127502A>G	uc004cmf.1	+	6	681	c.495A>G	c.(493-495)GTA>GTG	p.V165V	SLC34A3_uc004cmc.1_Silent_p.V22V|SLC34A3_uc004cmd.1_Silent_p.V165V|SLC34A3_uc011met.1_Silent_p.V165V	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	solute carrier family 34 (sodium phosphate),	165	Cytoplasmic (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GTGTCAACGTAGGCACATCCA	0.647													G	140127502	A	G	140127502	2	3	48	1	0	0	0	0	0	0	0	1	14569	407	15	3		3	SLC34A3	9	140127502	Silent	SNP	A	TCGA-BR-7703-01A-11D-2053-08	1413966	140127502	1085929	394	38411											
SFMBT2	57713	broad.mit.edu	37	chr10	7262416	7262416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccccttcacactcacaacGgaggccacacacagttctcc	6	19	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:7262416G>A	uc009xio.1	-	11	1378	c.1287C>T	c.(1285-1287)TCC>TCT	p.S429S	SFMBT2_uc001ijn.1_Silent_p.S429S|SFMBT2_uc010qay.1_Intron	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	429	MBT 4.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						CACTCACAACGGAGGCCACAC	0.517													A	7262416	G	A	7262416	2	1	48	1	0	0	0	0	0	0	0	1	14158	1103	39	1		1	SFMBT2	10	7262416	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08		7262416	128272331	395	38412											
GATA3	2625	broad.mit.edu	37	chr10	8100351	8100351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgggcagccaccacaccGcctccccctggaatctcagc	8	21	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:8100351G>A	uc001ika.2	+	3	882	c.325G>A	c.(325-327)GCC>ACC	p.A109T	GATA3_uc001ijz.2_Missense_Mutation_p.A109T	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	109					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22						CCACCACACCGCCTCCCCCTG	0.697			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						A	8100351	G	A	8100351	3	1	48	1	0	0	0	0	1	0	0	0	6255	1087	38	1	331	1	GATA3	10	8100351	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	837935	8100351	127434396	396	38413											
GATA3	2625	broad.mit.edu	37	chr10	8115975	8115975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccctccagcatggtcaccGccatgggttagagccctgct	10	16	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:8115975G>A	uc001ika.2	+	6	1878	c.1321G>A	c.(1321-1323)GCC>ACC	p.A441T	GATA3_uc001ijz.2_Missense_Mutation_p.A442T	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	441				A -> G (in Ref. 4; AAA35870).	aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22						CATGGTCACCGCCATGGGTTA	0.617			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						A	8115975	G	A	8115975	3	1	48	1	0	0	0	0	1	0	0	0	6255	1087	38	1	1342	1	GATA3	10	8115975	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	15624	8115975	127418772	397	38414											
UPF2	26019	broad.mit.edu	37	chr10	11971928	11971928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggatgttggtagcgaggccGcctctcacgattggtgtttg	15	9	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:11971928G>A	uc001ila.2	-	20	4219	c.3745C>T	c.(3745-3747)CGG>TGG	p.R1249W	UPF2_uc001ilb.2_Missense_Mutation_p.R1249W|UPF2_uc001ilc.2_Missense_Mutation_p.R1249W	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	1249	Sufficient for interaction with UPF1 C- terminus.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				TAGCGAGGCCGCCTCTCACGA	0.458													A	11971928	G	A	11971928	3	1	48	1	0	0	0	0	1	0	0	0	17001	1086	38	1	81	1	UPF2	10	11971928	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	3855953	11971928	123562819	398	38415											
MCM10	55388	broad.mit.edu	37	chr10	13228168	13228168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccttttcttacaggtgtGtttatctatcgatcatcctc	5	12	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:13228168G>A	uc001ima.2	+	9	1207	c.1106G>A	c.(1105-1107)TGT>TAT	p.C369Y	MCM10_uc001imb.2_Missense_Mutation_p.C368Y|MCM10_uc001imc.2_Missense_Mutation_p.C368Y	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	369					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						TTACAGGTGTGTTTATCTATC	0.428													A	13228168	G	A	13228168	3	1	48	1	0	0	0	0	1	0	0	0	9385	1377	48	4	1136	4	MCM10	10	13228168	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1256240	13228168	122306579	399	38416											
ENKUR	219670	broad.mit.edu	37	chr10	25284784	25284784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggctttttgggcacgttccGatcaaagtttttttctgtta	9	7	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:25284784G>A	uc001isg.1	-	3	403	c.238C>T	c.(238-240)CGG>TGG	p.R80W	ENKUR_uc001ish.1_Missense_Mutation_p.R18W	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	enkurin	80						cilium|flagellum	calmodulin binding|SH3 domain binding				0						GGCACGTTCCGATCAAAGTTT	0.328													A	25284784	G	A	25284784	3	1	48	1	0	0	0	0	1	0	0	0	5120	1057	37	1	548	1	ENKUR	10	25284784	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	12056616	25284784	110249963	400	38417											
MPP7	143098	broad.mit.edu	37	chr10	28409129	28409129	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taccagcagctcacctttccTggaaatgctttgaggggatc	10	11	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:28409129T>A	uc001iua.1	-	12	1285	c.881A>T	c.(880-882)CAG>CTG	p.Q294L	MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.Q294L|MPP7_uc009xla.2_Missense_Mutation_p.Q294L|MPP7_uc010qdv.1_RNA	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	palmitoylated membrane protein 7	294	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			ovary(1)	1						TCACCTTTCCTGGAAATGCTT	0.438													A	28409129	T	A	28409129	3	1	48	1	0	0	0	0	1	0	0	0	9739	1580	55	5	881	5	MPP7	10	28409129	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	3124345	28409129	107125618	401	38418											
ZNF438	220929	broad.mit.edu	37	chr10	31137596	31137596	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatggccaaaatagactcGgatgtggccaaacacttttg	10	9	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:31137596G>A	uc010qdz.1	-	7	2173	c.1738C>T	c.(1738-1740)CGA>TGA	p.R580*	ZNF438_uc001ivn.2_Nonsense_Mutation_p.R531*|ZNF438_uc010qdy.1_Nonsense_Mutation_p.R570*|ZNF438_uc001ivo.3_Nonsense_Mutation_p.R144*|ZNF438_uc009xlg.2_Nonsense_Mutation_p.R580*|ZNF438_uc001ivp.3_Nonsense_Mutation_p.R570*|ZNF438_uc010qea.1_Nonsense_Mutation_p.R580*|ZNF438_uc010qeb.1_Nonsense_Mutation_p.R580*|ZNF438_uc010qec.1_Nonsense_Mutation_p.R144*	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	580	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				AAATAGACTCGGATGTGGCCA	0.483													A	31137596	G	A	31137596	4	1	48	1	0	0	0	0	0	1	0	0	17907	1124	39	1	756	1	ZNF438	10	31137596	Nonsense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2728467	31137596	104397151	402	38419											
ANKRD30A	91074	broad.mit.edu	37	chr10	37430700	37430700	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccttggcggaaagaacacCtgacacagctgaaagcttgg	11	11	0	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:37430700C>A	uc001iza.1	+	7	806	c.707C>A	c.(706-708)CCT>CAT	p.P236H		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	292						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						GAAAGAACACCTGACACAGCT	0.443													A	37430700	C	A	37430700	3	1	48	1	0	0	0	0	1	0	0	0	658	681	24	5	733	5	ANKRD30A	10	37430700	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	6293104	37430700	98104047	403	38420											
ZNF248	57209	broad.mit.edu	37	chr10	38120778	38120778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgaggtttgacttcacaCagaaggattttccacattca	7	9	2	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:38120778C>T	uc001izd.1	-	6	2004	c.1505G>A	c.(1504-1506)TGT>TAT	p.C502Y	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.C502Y	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	502	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGACTTCACACAGAAGGATTT	0.423													T	38120778	C	T	38120778	3	4	48	1	0	0	0	0	1	0	0	0	17790	478	17	4	238	4	ZNF248	10	38120778	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	690078	38120778	97413969	404	38421											
SYT15	83849	broad.mit.edu	37	chr10	46967470	46967470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgggttggaggttttgcGtttggtcttggattggagga	18	4	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:46967470G>A	uc001jea.2	-	4	760	c.607C>T	c.(607-609)CGC>TGC	p.R203C	SYT15_uc001jdz.2_Missense_Mutation_p.R203C|SYT15_uc001jeb.2_Missense_Mutation_p.R81C|SYT15_uc010qfp.1_RNA	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	synaptotagmin XV isoform a	203	Cytoplasmic (Potential).|C2 1.					integral to membrane|plasma membrane					0						GAGGTTTTGCGTTTGGTCTTG	0.612													A	46967470	G	A	46967470	3	1	48	1	0	0	0	0	1	0	0	0	15468	1145	40	1	732	1	SYT15	10	46967470	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	8846692	46967470	88567277	405	38422											
NCOA4	8031	broad.mit.edu	37	chr10	51581289	51581290	+	Frame_Shift_Ins	INS	-	-	A													actgggcagtttgacccttaINSagcctgaagattcaactgtc							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:51581288_51581289T>TA	uc001jis.4	+	4	593_594	c.390_391T>TA	c.(388-393)cttaagfs	p.L130fs	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|NCOA4_uc009xon.3_Frame_Shift_Ins_p.L146fs|NCOA4_uc010qhd.2_Frame_Shift_Ins_p.L146fs|NCOA4_uc010qhe.2_Frame_Shift_Ins_p.L30fs|NCOA4_uc010qhf.2_5'UTR|NCOA4_uc001jit.3_Frame_Shift_Ins_p.L130fs|NCOA4_uc009xoo.3_Frame_Shift_Ins_p.L130fs	NM_001145263	NP_005428	Q13772	NCOA4_HUMAN	Homo sapiens nuclear receptor coactivator 4 (NCOA4), transcript variant 4, mRNA.	130					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GTTTGACCCTTAAGCCTGAAGA	0.391			T	RET	papillary thyroid								A	51581290	-	A	51581289	7	5	48	1	0	1	1	0	0	0	0	0	10231	363	13	0	457	0	NCOA4	10	51581289	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	4613819	51581289	83953458	406	38423											
PHYHIPL	84457	broad.mit.edu	37	chr10	60994193	60994193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattcaaaatcaaaggatcGcattacacactattttattg	6	7	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:60994193G>A	uc001jkk.3	+	2	502	c.236G>A	c.(235-237)CGC>CAC	p.R79H	PHYHIPL_uc001jkl.3_Missense_Mutation_p.R33H|PHYHIPL_uc001jkm.3_Missense_Mutation_p.R53H	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting	79	Fibronectin type-III.										0						TCAAAGGATCGCATTACACAC	0.323													A	60994193	G	A	60994193	3	1	48	1	0	0	0	0	1	0	0	0	11867	1087	38	1	274	1	PHYHIPL	10	60994193	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	9412904	60994193	74540554	407	38424											
DDX50	79009	broad.mit.edu	37	chr10	70673882	70673882	+	Frame_Shift_Del	DEL	A	A	-													cagtgggtatacaaagttgcAaaaaaatacatgaaatccag							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:70673882delA	uc001jou.2	+	7	1118	c.1011delA	c.(1009-1011)GCAfs	p.A337fs	DDX50_uc001jot.2_Frame_Shift_Del_p.A337fs|DDX50_uc010qjc.1_Frame_Shift_Del_p.A337fs	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	nucleolar protein GU2	337	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1						ACAAAGTTGCAAAAAAATACA	0.343													-	70673882	A	-	70673882	7	5	48	1	0	1	0	1	0	0	0	0	4368	117	5	0	1037	0	DDX50	10	70673882	Frame_Shift_Del	DEL	A	TCGA-BR-7703-01A-11D-2053-08	9679689	70673882	64860865	408	38425											
CDH23	64072	broad.mit.edu	37	chr10	73270932	73270932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaatgacaacgcgcccaCatttcacaatcagccctaca	6	14	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:73270932C>T	uc001jrx.3	+	6	769	c.392C>T	c.(391-393)ACA>ATA	p.T131I	CDH23_uc001jrw.3_Missense_Mutation_p.T131I|CDH23_uc001jrv.2_Missense_Mutation_p.T126I|CDH23_uc009xql.2_Missense_Mutation_p.T176I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	131	Cadherin 1.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						AACGCGCCCACATTTCACAAT	0.582													T	73270932	C	T	73270932	3	4	48	1	0	0	0	0	1	0	0	0	3108	478	17	4	410	4	CDH23	10	73270932	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2597050	73270932	62263815	409	38426											
C10orf54	64115	broad.mit.edu	37	chr10	73511467	73511467	+	Frame_Shift_Del	DEL	G	G	-													tccggggcctggaggagacaGgggggtgctgggctccgaaa							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:73511467delG	uc001jsd.2	-	6	997	c.856delC	c.(856-858)CTGfs	p.L286fs	CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_Frame_Shift_Del_p.L154fs|C10orf54_uc009xqm.2_Frame_Shift_Del_p.L124fs	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	platelet receptor Gi24 precursor	286	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)|central_nervous_system(1)	3						GGAGGAGACAGGGGGGTGCTG	0.617													-	73511467	G	-	73511467	7	5	48	1	0	1	0	1	0	0	0	0	1607	991	35	0	87	0	C10orf54	10	73511467	Frame_Shift_Del	DEL	G	TCGA-BR-7703-01A-11D-2053-08	240535	73511467	62023280	410	38427											
VCL	7414	broad.mit.edu	37	chr10	75868773	75868773	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaccacctctgcctgaaggTgaggtccctccacctaggcc	9	16	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:75868773T>C	uc001jwd.2	+	18	2698	c.2604T>C	c.(2602-2604)GGT>GGC	p.G868G	VCL_uc009xrr.2_Silent_p.G617G|VCL_uc010qky.1_Silent_p.G775G|VCL_uc001jwe.2_Silent_p.G868G|VCL_uc010qkz.1_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	868	Linker (Pro-rich).|Pro-rich.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)					TGCCTGAAGGTGAGGTCCCTC	0.502													C	75868773	T	C	75868773	2	2	48	1	0	0	0	0	0	0	0	1	17136	1683	59	3		3	VCL	10	75868773	Silent	SNP	T	TCGA-BR-7703-01A-11D-2053-08	2357306	75868773	59665974	411	38428											
KCNMA1	3778	broad.mit.edu	37	chr10	79397198	79397198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcaccgggatgatgagcGcatccatcttgggctcgtgg	15	10	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:79397198G>A	uc001jxn.2	-	1	380	c.203C>T	c.(202-204)GCG>GTG	p.A68V	KCNMA1_uc001jxj.2_Missense_Mutation_p.A68V|KCNMA1_uc001jxo.2_Missense_Mutation_p.A68V|KCNMA1_uc001jxm.2_Missense_Mutation_p.A68V|KCNMA1_uc001jxq.2_Missense_Mutation_p.A68V|KCNMA1_uc001jxs.3_Missense_Mutation_p.A68V|KCNMA1_uc001jxt.3_Missense_Mutation_p.A68V	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	68	Extracellular (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GATGATGAGCGCATCCATCTT	0.438													A	79397198	G	A	79397198	3	1	48	1	0	0	0	0	1	0	0	0	8073	1087	38	1	3791	1	KCNMA1	10	79397198	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	3528425	79397198	56137549	412	38429											
RPS24	6229	broad.mit.edu	37	chr10	79795304	79795304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccccgggaaggcgacagtGcctaagacagaaattcggga	13	11	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:79795304G>A	uc001jzq.2	+	3	247	c.105G>A	c.(103-105)GTG>GTA	p.V35V	RPS24_uc001jzo.2_Silent_p.V35V|RPS24_uc010qlo.1_Silent_p.V35V|RPS24_uc001jzp.2_Silent_p.V35V|RPS24_uc001jzs.2_Silent_p.V35V|RPS24_uc001jzt.2_RNA	NM_001026	NP_001017	P62847	RS24_HUMAN	ribosomal protein S24 isoform c	35					endocrine pancreas development|erythrocyte homeostasis|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	nucleotide binding|structural constituent of ribosome|translation initiation factor binding			skin(1)	1	all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095)		Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428)			AGGCGACAGTGCCTAAGACAG	0.398													A	79795304	G	A	79795304	2	1	48	1	0	0	0	0	0	0	0	1	13635	1306	46	2		2	RPS24	10	79795304	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	398106	79795304	55739443	413	38430											
PANK1	53354	broad.mit.edu	37	chr10	91353063	91353063	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctcgcttttctttactcAtcatgttgccaaagctatgt	5	10	4	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:91353063A>G	uc001kgp.1	-	5	1658	c.1502T>C	c.(1501-1503)ATG>ACG	p.M501T	PANK1_uc001kgn.1_Missense_Mutation_p.M276T|PANK1_uc001kgo.1_Missense_Mutation_p.M217T|PANK1_uc009xtu.1_Missense_Mutation_p.M303T|uc001kgq.1_5'Flank|MIR107_hsa-mir-107|MI0000114_5'Flank	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	pantothenate kinase 1 isoform alpha	501					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity				0					Bezafibrate(DB01393)	TTCTTTACTCATCATGTTGCC	0.507													G	91353063	A	G	91353063	3	3	48	1	0	0	0	0	1	0	0	0	11416	217	8	3	306	3	PANK1	10	91353063	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	11557759	91353063	44181684	414	38431											
CPEB3	22849	broad.mit.edu	37	chr10	93999953	93999953	+	Frame_Shift_Del	DEL	G	G	-													ctgggctgagggccggcactGcgctgttttcctccggcttg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:93999953delG	uc001khw.1	-	2	328	c.155delC	c.(154-156)GCAfs	p.A52fs	CPEB3_uc001khu.1_Frame_Shift_Del_p.A52fs|CPEB3_uc001khv.1_Frame_Shift_Del_p.A52fs|CPEB3_uc010qnn.1_Frame_Shift_Del_p.A52fs	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding	52	Pro-rich.						nucleotide binding|RNA binding				0		Colorectal(252;0.0869)				GGCCGGCACTGCGCTGTTTTC	0.597													-	93999953	G	-	93999953	7	5	48	1	0	1	0	1	0	0	0	0	3802	1319	46	0	2004	0	CPEB3	10	93999953	Frame_Shift_Del	DEL	G	TCGA-BR-7703-01A-11D-2053-08	2646890	93999953	41534794	415	38432											
PIK3AP1	118788	broad.mit.edu	37	chr10	98386589	98386589	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcctcatcgtcatccacCgtgtgataaacatcttcttc	6	13	4	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:98386589C>T	uc001kmq.2	-	10	1673	c.1545G>A	c.(1543-1545)ACG>ACA	p.T515T	PIK3AP1_uc001kmo.2_Silent_p.T114T|PIK3AP1_uc001kmp.2_Silent_p.T337T	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	515						cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CGTCATCCACCGTGTGATAAA	0.552													T	98386589	C	T	98386589	2	4	48	1	0	0	0	0	0	0	0	1	11908	639	23	1		1	PIK3AP1	10	98386589	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	4386636	98386589	37148158	416	38433											
DNMBP	23268	broad.mit.edu	37	chr10	101639817	101639817	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtctgggtctgaagggcaTctggaaggactactctctga	14	8	4	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:101639817T>C	uc001kqj.2	-	16	4391	c.4299A>G	c.(4297-4299)AGA>AGG	p.R1433R	DNMBP_uc010qpl.1_Silent_p.R369R|DNMBP_uc001kqg.2_Silent_p.R721R|DNMBP_uc001kqh.2_Silent_p.R1065R	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1433	Ser-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CTGAAGGGCATCTGGAAGGAC	0.532													C	101639817	T	C	101639817	2	2	48	1	0	0	0	0	0	0	0	1	4674	1432	50	3		3	DNMBP	10	101639817	Silent	SNP	T	TCGA-BR-7703-01A-11D-2053-08	3253228	101639817	33894930	417	38434											
SFXN3	81855	broad.mit.edu	37	chr10	102795417	102795417	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactggctgcatgctcacaTtctacaggcaggtcttgtcc	9	13	4	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:102795417T>C	uc001ksp.2	+	4	793	c.337T>C	c.(337-339)TTC>CTC	p.F113L	SFXN3_uc001ksq.2_Missense_Mutation_p.F113L|SFXN3_uc010qpx.1_Intron	NM_030971	NP_112233	Q9BWM7	SFXN3_HUMAN	sideroflexin 3	113					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CATGCTCACATTCTACAGGCA	0.572													C	102795417	T	C	102795417	3	2	48	1	0	0	0	0	1	0	0	0	14196	1493	52	3	347	3	SFXN3	10	102795417	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	1155600	102795417	32739330	418	38435											
LBX1	10660	broad.mit.edu	37	chr10	102987488	102987488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggttggtgaaggccgtgcGcgactttcgccgcttcttag	15	10	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:102987488G>A	uc001ksx.2	-	2	530	c.385C>T	c.(385-387)CGC>TGC	p.R129C	uc010qpy.1_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	ladybird homeobox 1	129	Homeobox.				muscle organ development		sequence-specific DNA binding				0		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		AAGGCCGTGCGCGACTTTCGC	0.587													A	102987488	G	A	102987488	3	1	48	1	0	0	0	0	1	0	0	0	8653	1087	38	1	464	1	LBX1	10	102987488	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	192071	102987488	32547259	419	38436											
NPM3	10360	broad.mit.edu	37	chr10	103541521	103541521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccccctgctttttggcaGgaaggatggggcacagctca	13	12	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:103541521G>A	uc001ktt.2	-	5	532	c.509C>T	c.(508-510)CCT>CTT	p.P170L		NM_006993	NP_008924	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	170							nucleic acid binding				0		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CTTTTTGGCAGGAAGGATGGG	0.438											OREG0020469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	103541521	G	A	103541521	3	1	48	1	0	0	0	0	1	0	0	0	10589	1000	35	4	31	4	NPM3	10	103541521	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	554033	103541521	31993226	420	38437											
LDB1	8861	broad.mit.edu	37	chr10	103871259	103871259	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgccgttcgggggctccttCggcgagtacagcttgaatga	14	10	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:103871259C>T	uc009xwz.2	-	2	403	c.60G>A	c.(58-60)CCG>CCA	p.P20P	LDB1_uc001kuk.3_5'UTR|LDB1_uc001kul.3_5'UTR	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN	LIM domain binding 1 isoform 1	20					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			large_intestine(1)	1		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GGGGCTCCTTCGGCGAGTACA	0.433													T	103871259	C	T	103871259	2	4	48	1	0	0	0	0	0	0	0	1	8695	871	31	1		1	LDB1	10	103871259	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	329738	103871259	31663488	421	38438											
GBF1	8729	broad.mit.edu	37	chr10	104119976	104119976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctatggtcttccctgcatcCgcgagctcttccgcttcctc	7	18	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:104119976C>T	uc001kux.1	+	12	1453	c.1213C>T	c.(1213-1215)CGC>TGC	p.R405C	GBF1_uc001kuw.2_3'UTR|GBF1_uc001kuy.1_Missense_Mutation_p.R405C|GBF1_uc001kuz.1_Missense_Mutation_p.R406C	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	405					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TCCCTGCATCCGCGAGCTCTT	0.547													T	104119976	C	T	104119976	3	4	48	1	0	0	0	0	1	0	0	0	6271	652	23	1	1255	1	GBF1	10	104119976	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	248717	104119976	31414771	422	38439											
PSD	5662	broad.mit.edu	37	chr10	104176197	104176197	+	Frame_Shift_Del	DEL	G	G	-													agagtgtggccaggcgctcaGgggggccccccagcccattg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:104176197delG	uc001kvg.1	-	2	1126	c.599delC	c.(598-600)CCTfs	p.P200fs	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Frame_Shift_Del_p.P200fs|PSD_uc001kvi.1_Frame_Shift_Del_p.P200fs|FBXL15_uc001kvj.1_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	200					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CAGGCGCTCAGGGGGGCCCCC	0.652													-	104176197	G	-	104176197	7	5	48	1	0	1	0	1	0	0	0	0	12646	1000	35	0	2539	0	PSD	10	104176197	Frame_Shift_Del	DEL	G	TCGA-BR-7703-01A-11D-2053-08	56221	104176197	31358550	423	38440											
C10orf79	80217	broad.mit.edu	37	chr10	105956617	105956617	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtatacttactagggtAttcagataaatcttgcttac	6	7	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:105956617A>T	uc001kxw.2	-	10	1403	c.1287T>A	c.(1285-1287)AAT>AAA	p.N429K	C10orf79_uc001kxx.3_Missense_Mutation_p.N430K|C10orf79_uc001kxy.1_Missense_Mutation_p.N430K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	429	WD 7.										0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		TTACTAGGGTATTCAGATAAA	0.303													T	105956617	A	T	105956617	3	4	48	1	0	0	0	0	1	0	0	0	1618	446	16	5	3826	5	C10orf79	10	105956617	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	1780420	105956617	29578130	424	38441											
SORCS1	114815	broad.mit.edu	37	chr10	108923921	108923921	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggggctccgactcgcgccctCtccccgttctgccttctcct	9	20	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:108923921C>G	uc001kym.2	-	1	372	c.364G>C	c.(364-366)GAG>CAG	p.E122Q	SORCS1_uc001kyl.2_Missense_Mutation_p.E122Q|SORCS1_uc009xxs.2_Missense_Mutation_p.E122Q|SORCS1_uc001kyn.1_Missense_Mutation_p.E122Q|SORCS1_uc001kyo.2_Missense_Mutation_p.E122Q	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	122	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTCGCGCCCTCTCCCCGTTCT	0.706													G	108923921	C	G	108923921	3	3	48	1	0	0	0	0	1	0	0	0	14930	922	32	5	3480	5	SORCS1	10	108923921	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2967304	108923921	26610826	425	38442											
SHOC2	8036	broad.mit.edu	37	chr10	112724378	112724378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagaaaaaaatccagcaatGcagaggtgattaaagagctc	9	7	0	4			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:112724378G>A	uc001kzl.3	+	2	611	c.262G>A	c.(262-264)GCA>ACA	p.A88T	SHOC2_uc009xxx.2_Missense_Mutation_p.A88T|SHOC2_uc010qrg.1_Intron|SHOC2_uc001kzn.2_Missense_Mutation_p.A88T	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog	88					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			ovary(1)|skin(1)	2				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		ATCCAGCAATGCAGAGGTGAT	0.448													A	112724378	G	A	112724378	3	1	48	1	0	0	0	0	1	0	0	0	14287	1319	46	2	264	2	SHOC2	10	112724378	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	3800457	112724378	22810369	426	38443											
TECTB	6975	broad.mit.edu	37	chr10	114057846	114057846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccccacggatgaaaccGtcctcgtgcatgagaatggg	13	12	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:114057846G>A	uc001kzr.1	+	7	691	c.691G>A	c.(691-693)GTC>ATC	p.V231I		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	tectorin beta precursor	231	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix					0		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GGATGAAACCGTCCTCGTGCA	0.517													A	114057846	G	A	114057846	3	1	48	1	0	0	0	0	1	0	0	0	15745	1145	40	1	717	1	TECTB	10	114057846	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1333468	114057846	21476901	427	38444											
TCF7L2	6934	broad.mit.edu	37	chr10	114912188	114912188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaccccggctggtccgcgCgggataactatgtaggtgga	15	10	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:114912188C>T	uc001lae.3	+	11	1765	c.1258C>T	c.(1258-1260)CGG>TGG	p.R420W	TCF7L2_uc001lac.3_Missense_Mutation_p.R397W|TCF7L2_uc010qrk.1_Missense_Mutation_p.R397W|TCF7L2_uc010qrl.1_Missense_Mutation_p.R397W|TCF7L2_uc010qrm.1_Missense_Mutation_p.R420W|TCF7L2_uc010qrn.1_Missense_Mutation_p.R363W|TCF7L2_uc001lad.3_Missense_Mutation_p.R393W|TCF7L2_uc001lag.3_Missense_Mutation_p.R444W|TCF7L2_uc001laf.3_Missense_Mutation_p.R397W|TCF7L2_uc010qro.1_Missense_Mutation_p.R397W|TCF7L2_uc001lah.2_Missense_Mutation_p.R402W|TCF7L2_uc010qrp.1_Missense_Mutation_p.R397W|TCF7L2_uc010qrq.1_Missense_Mutation_p.R393W|TCF7L2_uc010qrr.1_Missense_Mutation_p.R335W|TCF7L2_uc010qrs.1_Missense_Mutation_p.R291W|TCF7L2_uc010qrt.1_Missense_Mutation_p.R291W|TCF7L2_uc010qru.1_Missense_Mutation_p.R319W|TCF7L2_uc010qrv.1_Missense_Mutation_p.R237W|TCF7L2_uc010qrw.1_Missense_Mutation_p.R124W|TCF7L2_uc010qrx.1_Missense_Mutation_p.R277W	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	420					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CTGGTCCGCGCGGGATAACTA	0.527													T	114912188	C	T	114912188	3	4	48	1	0	0	0	0	1	0	0	0	15695	759	27	1	1445	1	TCF7L2	10	114912188	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	854342	114912188	20622559	428	38445											
HSPA12A	259217	broad.mit.edu	37	chr10	118434447	118434447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccctgtgagatccaggcGgagcgtgccacacttcttca	12	13	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:118434447G>A	uc001lct.2	-	12	1978	c.1873C>T	c.(1873-1875)CGC>TGC	p.R625C	HSPA12A_uc001lcu.2_Missense_Mutation_p.R542C	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	625							ATP binding			ovary(1)	1				all cancers(201;0.0158)		AGATCCAGGCGGAGCGTGCCA	0.592													A	118434447	G	A	118434447	3	1	48	1	0	0	0	0	1	0	0	0	7404	1116	39	1	158	1	HSPA12A	10	118434447	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	3522259	118434447	17100300	429	38446											
KIAA1598	57698	broad.mit.edu	37	chr10	118713647	118713647	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaatgtttatctcttcAgttattacatctggtcccag	5	10	5	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:118713647A>G	uc009xyw.2	-	5	840	c.342T>C	c.(340-342)ACT>ACC	p.T114T	KIAA1598_uc001lcz.3_Silent_p.T114T|KIAA1598_uc010qso.1_Silent_p.T54T|KIAA1598_uc010qsp.1_Silent_p.T114T|KIAA1598_uc010qsq.1_Silent_p.T54T|KIAA1598_uc001lcy.3_Silent_p.T84T	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN	shootin1 isoform a	114	Potential.				axon guidance	axon					0				all cancers(201;0.00494)		TTATCTCTTCAGTTATTACAT	0.368													G	118713647	A	G	118713647	2	3	48	1	0	0	0	0	0	0	0	1	8246	175	7	3		3	KIAA1598	10	118713647	Silent	SNP	A	TCGA-BR-7703-01A-11D-2053-08	279200	118713647	16821100	430	38447											
PRLHR	2834	broad.mit.edu	37	chr10	120354648	120354648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccgcgccagccaccgaccCgttgcccgccgaggcctctg	12	20	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:120354648C>T	uc001ldp.1	-	2	248	c.109G>A	c.(109-111)GGG>AGG	p.G37R		NM_004248	NP_004239	P49683	PRLHR_HUMAN	G protein-coupled receptor 10	37	Extracellular (Potential).				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity				0		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GCCACCGACCCGTTGCCCGCC	0.667													T	120354648	C	T	120354648	3	4	48	1	0	0	0	0	1	0	0	0	12530	652	23	1	1007	1	PRLHR	10	120354648	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1641001	120354648	15180099	431	38448											
INPP5F	22876	broad.mit.edu	37	chr10	121567499	121567499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attacctgtgaaatgtaatcGcatctaccagataatgtggg	9	7	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:121567499G>A	uc001leo.2	+	13	1662	c.1496G>A	c.(1495-1497)CGC>CAC	p.R499H		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	499	SAC.						phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AAATGTAATCGCATCTACCAG	0.443													A	121567499	G	A	121567499	3	1	48	1	0	0	0	0	1	0	0	0	7758	1087	38	1	1546	1	INPP5F	10	121567499	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1212851	121567499	13967248	432	38449											
FAM196A	642938	broad.mit.edu	37	chr10	128974289	128974289	+	Frame_Shift_Del	DEL	T	T	-													ggaggcttttgaggttccccTttttgcggtccagagggaac							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:128974288_128974288CT>C	uc001lju.1	-	0	413	c.372_372AG>G	c.(370-372)aagfs	p.K124fs	DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Frame_Shift_Del_p.K124fs|FAM196A_uc001ljv.1_Frame_Shift_Del_p.K124fs|FAM196A_uc009yap.1_Frame_Shift_Del_p.K124fs	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.	124										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGAGGTTCCCCTTTTTGCGGT	0.547													-	128974289	T	-	128974289	7	5	48	1	0	1	0	1	0	0	0	0	5528	1609	56	0	1080	0	FAM196A	10	128974289	Frame_Shift_Del	DEL	T	TCGA-BR-7703-01A-11D-2053-08	7406790	128974289	6560458	433	38450											
GPR123	84435	broad.mit.edu	37	chr10	134916258	134916258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtggataggagtgaccGccaggaacatctacaagcag	13	9	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:134916258G>A	uc001llx.3	+	5	749	c.313G>A	c.(313-315)GCC>ACC	p.A105T	GPR123_uc001llw.2_Missense_Mutation_p.A825T	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	105	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		AGGAGTGACCGCCAGGAACAT	0.622													A	134916258	G	A	134916258	3	1	48	1	0	0	0	0	1	0	0	0	6637	1087	38	1	327	1	GPR123	10	134916258	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	5941969	134916258	618489	434	38451											
ADAM8	101	broad.mit.edu	37	chr10	135083962	135083962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccacgatgcagatggcacGccccaggggctgctgcccac	12	16	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:135083962G>A	uc010qva.1	-	15	1621	c.1570C>T	c.(1570-1572)CGT>TGT	p.R524C	ADAM8_uc010quz.1_Missense_Mutation_p.R563C|ADAM8_uc009ybi.2_Missense_Mutation_p.R563C			P78325	ADAM8_HUMAN	SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);	524					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			large_intestine(2)|central_nervous_system(1)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CAGATGGCACGCCCCAGGGGC	0.647													A	135083962	G	A	135083962	3	1	48	1	0	0	0	0	1	0	0	0	252	1087	38	1	737	1	ADAM8	10	135083962	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	167704	135083962	450785	435	38452											
DRD4	1815	broad.mit.edu	37	chr11	639781	639781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcggcctcaacgacgtgCgcggccgcgaccccgccgtg	15	17	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:639781C>T	uc001lqp.1	+	3	532	c.532C>T	c.(532-534)CGC>TGC	p.R178C		NM_000797	NP_000788	P21917	DRD4_HUMAN	dopamine receptor D4	178	Extracellular (Potential).				activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding				0		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)	CAACGACGTGCGCGGCCGCGA	0.726													T	639781	C	T	639781	3	4	48	1	0	0	0	0	1	0	0	0	4759	768	27	1	542	1	DRD4	11	639781	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08		639781	134366735	436	38453											
PDDC1	347862	broad.mit.edu	37	chr11	771381	771381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtcctccaccacgagcgGcaggcgggcgaagccggggg	18	13	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:771381G>A	uc001lrc.2	-	6	521	c.496C>T	c.(496-498)CCG>TCG	p.P166S	PDDC1_uc010qwm.1_Missense_Mutation_p.P116S|PDDC1_uc001lrd.2_Missense_Mutation_p.P166S|PDDC1_uc001lrf.1_Silent_p.C143C|PDDC1_uc001lrg.1_RNA|PDDC1_uc009ycg.2_Missense_Mutation_p.P116S|PDDC1_uc010qwn.1_RNA|PDDC1_uc010qwo.1_RNA|PDDC1_uc010qwp.1_Missense_Mutation_p.P130S|PDDC1_uc010qwq.1_Missense_Mutation_p.P80S|PDDC1_uc010qwr.1_Missense_Mutation_p.P166S|PDDC1_uc010qws.1_Missense_Mutation_p.P116S	NM_182612	NP_872418	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	166						extracellular region					0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCACGAGCGGCAGGCGGGCG	0.706													A	771381	G	A	771381	3	1	48	1	0	0	0	0	1	0	0	0	11629	1203	42	2	178	2	PDDC1	11	771381	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	131600	771381	134235135	437	38454											
MUC6	4588	broad.mit.edu	37	chr11	1016092	1016092	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggctaggtggctggatgGggtgggagacacggtaacag	21	5	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:1016092G>T	uc001lsw.2	-	31	6760	c.6709C>A	c.(6709-6711)CCA>ACA	p.P2237T		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	2237	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGCTGGATGGGGTGGGAGAC	0.602													T	1016092	G	T	1016092	3	4	48	1	0	0	0	0	1	0	0	0	9980	1232	43	5	622	5	MUC6	11	1016092	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	244711	1016092	133990424	438	38455											
MUC5B	727897	broad.mit.edu	37	chr11	1272413	1272413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaccgtcccagcacagaCcaccacacccatgtccacca	7	19	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:1272413C>T	uc009ycr.1	+	52	15395	c.15269C>T	c.(15268-15270)ACC>ATC	p.T5090I	MUC5B_uc001ltb.2_Missense_Mutation_p.T4771I	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4693	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGCACAGACCACCACACCC	0.582													T	1272413	C	T	1272413	3	4	48	1	0	0	0	0	1	0	0	0	9979	507	18	4	14434	4	MUC5B	11	1272413	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	256321	1272413	133734103	439	38456											
NUP98	4928	broad.mit.edu	37	chr11	3726529	3726529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggcaggcgactgaagcGttgatccagtgccatatcta	13	9	1	2	rs144100440		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:3726529G>A	uc001lyh.2	-	22	3274	c.2983C>T	c.(2983-2985)CGC>TGC	p.R995C	NUP98_uc001lyi.2_Missense_Mutation_p.R995C|NUP98_uc001lyg.2_Missense_Mutation_p.R63C	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1012					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CGACTGAAGCGTTGATCCAGT	0.433			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								A	3726529	G	A	3726529	3	1	48	1	0	0	0	0	1	0	0	0	10773	1145	40	1	2467	1	NUP98	11	3726529	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2454116	3726529	131279987	440	38457											
OR56A1	120796	broad.mit.edu	37	chr11	6048430	6048430	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaatggagcagggaagtgaGgataggaatgggtgcagtaa	18	2	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:6048430G>T	uc010qzw.1	-	1	505	c.505C>A	c.(505-507)CTC>ATC	p.L169I		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	169	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGAAGTGAGGATAGGAATG	0.478													T	6048430	G	T	6048430	3	4	48	1	0	0	0	0	1	0	0	0	11133	1000	35	5	455	5	OR56A1	11	6048430	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2321901	6048430	128958086	441	38458											
ARFIP2	23647	broad.mit.edu	37	chr11	6499032	6499032	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgatgggcctggaaagtggcCtgggcactctcaagtcgacc	14	12	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:6499032C>A	uc001mdk.2	-	7	923	c.786G>T	c.(784-786)CAG>CAT	p.Q262H	ARFIP2_uc001mdl.2_Missense_Mutation_p.Q262H|ARFIP2_uc010ral.1_Missense_Mutation_p.Q224H|ARFIP2_uc010ram.1_Missense_Mutation_p.Q168H|ARFIP2_uc010ran.1_Missense_Mutation_p.Q295H|ARFIP2_uc001mdm.2_RNA	NM_012402	NP_036534	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	262	AH.				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGAAAGTGGCCTGGGCACTCT	0.587													A	6499032	C	A	6499032	3	1	48	1	0	0	0	0	1	0	0	0	855	680	24	5	247	5	ARFIP2	11	6499032	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	450602	6499032	128507484	442	38459											
OR2D3	120775	broad.mit.edu	37	chr11	6942990	6942991	+	Frame_Shift_Ins	INS	-	-	T													ggggaagggagactcaaggcINStttttccacctgtggctccc							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:6942990_6942991insT	uc010rav.1	+	1	758_759	c.758_759insT	c.(757-759)GCTfs	p.A253fs		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	253	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGACTCAAGGCTTTTTCCACCT	0.465													T	6942991	-	T	6942990	7	5	48	1	0	1	1	0	0	0	0	0	10995	797	28	0	760	0	OR2D3	11	6942990	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	443958	6942990	128063526	443	38460	123	2									
OR2D3	120775	broad.mit.edu	37	chr11	6942991	6942992	+	Frame_Shift_Ins	INS	-	-	T													gggaagggagactcaaggctINSttttccacctgtggctccca							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:6942990_6942991C>CT	uc010rav.2	+	0	758_759	c.758_759C>CT	c.(757-759)gctfs	p.A253fs		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGACTCAAGGCTTTTTCCACCT	0.465													T	6942992	-	T	6942991	7	5	48	1	0	1	1	0	0	0	0	0	10995	1596	56	0	761	0	OR2D3	11	6942991	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	1	6942991	128063525	444	38461	123	2									
SBF2	81846	broad.mit.edu	37	chr11	9878031	9878031	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacaatgctgttgcttccGctctcccagtcacctggcgc	10	15	2	1	rs140730386	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:9878031G>A	uc001mib.2	-	19	2475	c.2337C>T	c.(2335-2337)AGC>AGT	p.S779S	SBF2_uc001mif.3_Silent_p.S535S|uc001mig.2_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	779					myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TGTTGCTTCCGCTCTCCCAGT	0.473													A	9878031	G	A	9878031	2	1	48	1	0	0	0	0	0	0	0	1	13859	1078	38	1		1	SBF2	11	9878031	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2935040	9878031	125128485	445	38462											
AMPD3	272	broad.mit.edu	37	chr11	10524329	10524329	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattgccatgtctcctcttaGcaacaacagtttgttcctcg	6	13	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:10524329G>T	uc001mio.1	+	13	2239	c.1904G>T	c.(1903-1905)AGC>ATC	p.S635I	AMPD3_uc010rbz.1_Missense_Mutation_p.S476I|AMPD3_uc001min.1_Missense_Mutation_p.S644I|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.S642I|AMPD3_uc009yfy.2_Missense_Mutation_p.S635I	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	635					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TCTCCTCTTAGCAACAACAGT	0.473													T	10524329	G	T	10524329	3	4	48	1	0	0	0	0	1	0	0	0	587	971	34	5	2001	5	AMPD3	11	10524329	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	646298	10524329	124482187	446	38463											
EIF4G2	1982	broad.mit.edu	37	chr11	10826480	10826480	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtatgacccctttaaGgatgagtttagactctacac	8	10	1	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:10826480G>T	uc001mjc.2	-	5	748	c.331C>A	c.(331-333)CTT>ATT	p.L111I	EIF4G2_uc001mjb.2_5'UTR|EIF4G2_uc009ygf.2_5'UTR|EIF4G2_uc001mjd.2_Missense_Mutation_p.L111I|EIF4G2_uc001mjf.1_5'UTR	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	111	MIF4G.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ACCCCTTTAAGGATGAGTTTA	0.373													T	10826480	G	T	10826480	3	4	48	1	0	0	0	0	1	0	0	0	5037	1000	35	5	2464	5	EIF4G2	11	10826480	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	302151	10826480	124180036	447	38464											
MRGPRX3	117195	broad.mit.edu	37	chr11	18158959	18158959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatcctcaacctggtcgcGgccgacttcctcttccttag	7	16	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:18158959G>A	uc001mnu.2	+	3	571	c.210G>A	c.(208-210)GCG>GCA	p.A70A		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	70	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						ACCTGGTCGCGGCCGACTTCC	0.562													A	18158959	G	A	18158959	2	1	48	1	0	0	0	0	0	0	0	1	9768	1103	39	1		1	MRGPRX3	11	18158959	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	7332479	18158959	116847557	448	38465											
IGSF22	283284	broad.mit.edu	37	chr11	18736149	18736149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgcacgtcggacatcccGctcttcactgtggccagacg	12	15	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:18736149G>A	uc009yht.2	-	12	1744	c.1554C>T	c.(1552-1554)AGC>AGT	p.S518S	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	518										ovary(4)|large_intestine(2)|kidney(1)	7						CGGACATCCCGCTCTTCACTG	0.607													A	18736149	G	A	18736149	2	1	48	1	0	0	0	0	0	0	0	1	7600	1078	38	1		1	IGSF22	11	18736149	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	577190	18736149	116270367	449	38466											
ANO5	203859	broad.mit.edu	37	chr11	22301182	22301182	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcaagagagaaaagttaatGactatcaagattctccatga	7	6	3	5			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:22301182G>A	uc001mqi.2	+	22	2930	c.2613G>A	c.(2611-2613)ATG>ATA	p.M871I	ANO5_uc001mqj.2_Missense_Mutation_p.M870I	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	871	Cytoplasmic (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						AAAAGTTAATGACTATCAAGA	0.343													A	22301182	G	A	22301182	3	1	48	1	0	0	0	0	1	0	0	0	700	1290	45	4	2699	4	ANO5	11	22301182	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	3565033	22301182	112705334	450	38467											
SLC17A6	57084	broad.mit.edu	37	chr11	22396404	22396404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcagattctttcaactaCgacagtgagaaagatcatga	8	8	3	4			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:22396404C>T	uc001mqk.2	+	9	1558	c.1145C>T	c.(1144-1146)ACG>ATG	p.T382M		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	382	Cytoplasmic (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						CTTTCAACTACGACAGTGAGA	0.373													T	22396404	C	T	22396404	3	4	48	1	0	0	0	0	1	0	0	0	14421	536	19	1	1179	1	SLC17A6	11	22396404	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	95222	22396404	112610112	451	38468											
GAS2	2620	broad.mit.edu	37	chr11	22833350	22833350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttttcatttcagatgctgCacaacaaacatgtcatggtc	6	9	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:22833350C>T	uc009yie.2	+	8	1036	c.730C>T	c.(730-732)CAC>TAC	p.H244Y	GAS2_uc001mqm.2_Missense_Mutation_p.H244Y|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Missense_Mutation_p.H244Y	NM_001143830	NP_001137302	O43903	GAS2_HUMAN	growth arrest-specific 2	244	GAR.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				ovary(1)|skin(1)	2						TCAGATGCTGCACAACAAACA	0.428													T	22833350	C	T	22833350	3	4	48	1	0	0	0	0	1	0	0	0	6245	710	25	2	756	2	GAS2	11	22833350	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	436946	22833350	112173166	452	38469											
DCDC1	341019	broad.mit.edu	37	chr11	31327839	31327839	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagatccatttttgtaagcTgttactttaatcactcttgg	6	8	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:31327839T>C	uc001msv.2	-	5	733	c.531A>G	c.(529-531)ACA>ACG	p.T177T	DCDC1_uc001msu.1_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	177	Doublecortin.				intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					TTTTGTAAGCTGTTACTTTAA	0.373													C	31327839	T	C	31327839	2	2	48	1	0	0	0	0	0	0	0	1	4284	1567	55	3		3	DCDC1	11	31327839	Silent	SNP	T	TCGA-BR-7703-01A-11D-2053-08	8494489	31327839	103678677	453	38470											
PAX6	5080	broad.mit.edu	37	chr11	31812317	31812317	+	Frame_Shift_Del	DEL	G	G	-													tcatgtgtgtctgcatatgtGggggggtgtaggtatcataa							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:31812316_31812316TG>T	uc009yjr.3	-	11	1594	c.1125_1125CA>A	c.(1123-1125)ccafs	p.P375fs	PAX6_uc001mtd.4_Frame_Shift_Del_p.P375fs|PAX6_uc001mte.4_Frame_Shift_Del_p.P375fs|PAX6_uc001mtg.4_Frame_Shift_Del_p.P389fs|PAX6_uc001mtf.4_Frame_Shift_Del_p.P375fs|PAX6_uc001mth.4_Frame_Shift_Del_p.P375fs|PAX6_uc021qfl.1_Frame_Shift_Del_p.P389fs|PAX6_uc021qfm.1_Frame_Shift_Del_p.P389fs	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGT	0.592									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				-	31812317	G	-	31812317	7	5	48	1	0	1	0	1	0	0	0	0	11483	1348	47	0	152	0	PAX6	11	31812317	Frame_Shift_Del	DEL	G	TCGA-BR-7703-01A-11D-2053-08	484478	31812317	103194199	454	38471											
CD59	966	broad.mit.edu	37	chr11	33731873	33731873	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcaaacttccaacacttGttatacacttgtaaccctgt	4	12	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:33731873G>A	uc001mus.3	-	3	468	c.186C>T	c.(184-186)AAC>AAT	p.N62N	CD59_uc009yjx.2_Silent_p.N62N|CD59_uc009yjy.2_Silent_p.N62N|CD59_uc009yjz.2_Silent_p.N62N|CD59_uc001mut.3_Silent_p.N62N|CD59_uc009yka.2_Silent_p.N62N|CD59_uc001muu.3_Silent_p.N62N|CD59_uc001muv.3_Silent_p.N62N|CD59_uc001mux.3_Missense_Mutation_p.T103I	NM_001127223	NP_001120695	P13987	CD59_HUMAN	CD59 antigen preproprotein	62	UPAR/Ly6.				blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction					0						TCCAACACTTGTTATACACTT	0.428													A	33731873	G	A	33731873	2	1	48	1	0	0	0	0	0	0	0	1	3026	1368	48	4		4	CD59	11	33731873	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1919556	33731873	101274643	455	38472											
ACCS	84680	broad.mit.edu	37	chr11	44098843	44098843	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccagaggctttcctgatcCccaccccttactatggcgct	7	18	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:44098843C>A	uc009yks.1	+	7	715	c.571C>A	c.(571-573)CCC>ACC	p.P191T	EXT2_uc010rfo.1_Intron|ACCS_uc010rfm.1_Intron|ACCS_uc010rfn.1_3'UTR|ACCS_uc001mxx.2_Missense_Mutation_p.P191T	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase	191							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4						TTTCCTGATCCCCACCCCTTA	0.582													A	44098843	C	A	44098843	3	1	48	1	0	0	0	0	1	0	0	0	133	623	22	5	593	5	ACCS	11	44098843	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	10366970	44098843	90907673	456	38473											
ZNF408	79797	broad.mit.edu	37	chr11	46726219	46726219	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacccagagcaaagaccccAgagcctggagcccagcagtc	10	17	0	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:46726219A>G	uc001nde.1	+	5	1199	c.969A>G	c.(967-969)CCA>CCG	p.P323P	ZNF408_uc010rgw.1_Silent_p.P315P	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding				0						CAAAGACCCCAGAGCCTGGAG	0.637													G	46726219	A	G	46726219	2	3	48	1	0	0	0	0	0	0	0	1	17885	175	7	3		3	ZNF408	11	46726219	Silent	SNP	A	TCGA-BR-7703-01A-11D-2053-08	2627376	46726219	88280297	457	38474											
MADD	8567	broad.mit.edu	37	chr11	47312235	47312235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatcctggcctagctgggCggggggacccaaaggctatg	17	10	0	0	rs143064159		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:47312235C>T	uc001ner.1	+	20	3420	c.3229C>T	c.(3229-3231)CGG>TGG	p.R1077W	MADD_uc001neq.2_Missense_Mutation_p.R1057W|MADD_uc001nev.1_Missense_Mutation_p.R1014W|MADD_uc001nes.1_Missense_Mutation_p.R1034W|MADD_uc001net.1_Missense_Mutation_p.R1077W|MADD_uc009yln.1_Missense_Mutation_p.R1014W|MADD_uc001neu.1_Missense_Mutation_p.R1014W|MADD_uc001nex.2_Missense_Mutation_p.R1077W|MADD_uc001nez.2_Missense_Mutation_p.R1014W|MADD_uc001new.2_Missense_Mutation_p.R1057W|MADD_uc009ylo.2_5'UTR	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	1077					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		CCTAGCTGGGCGGGGGGACCC	0.532													T	47312235	C	T	47312235	3	4	48	1	0	0	0	0	1	0	0	0	9152	759	27	1	3303	1	MADD	11	47312235	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	586016	47312235	87694281	458	38475											
OR4C11	219429	broad.mit.edu	37	chr11	55371101	55371101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatatgaatatacatgggCcaaagaataagatgactaca	7	5	0	4			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:55371101C>T	uc010rii.1	-	1	749	c.749G>A	c.(748-750)GGC>GAC	p.G250D		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	250	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TATACATGGGCCAAAGAATAA	0.438													T	55371101	C	T	55371101	3	4	48	1	0	0	0	0	1	0	0	0	11045	739	26	2	185	2	OR4C11	11	55371101	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	8058866	55371101	79635415	459	38476											
OR4S2	219431	broad.mit.edu	37	chr11	55418792	55418792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccatcatgaaccgggagaCatgcaataaaatgttattag	9	7	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:55418792C>T	uc001nhs.1	+	1	413	c.413C>T	c.(412-414)ACA>ATA	p.T138I		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	138	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.0748)				AACCGGGAGACATGCAATAAA	0.438													T	55418792	C	T	55418792	3	4	48	1	0	0	0	0	1	0	0	0	11083	478	17	4	415	4	OR4S2	11	55418792	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	47691	55418792	79587724	460	38477											
OR10AG1	282770	broad.mit.edu	37	chr11	55735148	55735148	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atggtgtagaaaagagaaatCagtttccccatcctttgaaa	8	7	1	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:55735148C>T	uc010rit.1	-	1	792	c.792G>A	c.(790-792)CTG>CTA	p.L264L		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG,	264	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.0137)					AAAGAGAAATCAGTTTCCCCA	0.368													T	55735148	C	T	55735148	2	4	48	1	0	0	0	0	0	0	0	1	10897	813	29	4		4	OR10AG1	11	55735148	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	316356	55735148	79271368	461	38478											
CTNND1	1500	broad.mit.edu	37	chr11	57571140	57571140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaatcaaaatggagattGtggaccatgcactgcatgcc	9	10	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:57571140G>A	uc001nmc.3	+	8	2039	c.1468G>A	c.(1468-1470)GTG>ATG	p.V490M	CTNND1_uc001nlh.1_Missense_Mutation_p.V490M|CTNND1_uc001nlu.3_Missense_Mutation_p.V389M|CTNND1_uc001nlt.3_Missense_Mutation_p.V389M|CTNND1_uc001nls.3_Missense_Mutation_p.V389M|CTNND1_uc001nlw.3_Missense_Mutation_p.V389M|CTNND1_uc001nmf.3_Missense_Mutation_p.V490M|CTNND1_uc001nmd.3_Missense_Mutation_p.V436M|CTNND1_uc001nlk.3_Missense_Mutation_p.V436M|CTNND1_uc001nme.3_Missense_Mutation_p.V490M|CTNND1_uc001nll.3_Missense_Mutation_p.V436M|CTNND1_uc001nmg.3_Missense_Mutation_p.V436M|CTNND1_uc001nlj.3_Missense_Mutation_p.V436M|CTNND1_uc001nlr.3_Missense_Mutation_p.V436M|CTNND1_uc001nlp.3_Missense_Mutation_p.V436M|CTNND1_uc001nlx.3_Missense_Mutation_p.V167M|CTNND1_uc001nlz.3_Missense_Mutation_p.V167M|CTNND1_uc009ymn.2_Missense_Mutation_p.V167M|CTNND1_uc001nlm.3_Missense_Mutation_p.V490M|CTNND1_uc001nly.3_Missense_Mutation_p.V167M|CTNND1_uc001nmb.3_Missense_Mutation_p.V167M|CTNND1_uc001nma.3_Missense_Mutation_p.V167M|CTNND1_uc001nmi.3_Missense_Mutation_p.V389M|CTNND1_uc001nmh.3_Missense_Mutation_p.V490M|CTNND1_uc001nlq.3_Missense_Mutation_p.V389M|CTNND1_uc001nln.3_Missense_Mutation_p.V490M|CTNND1_uc001nli.3_Missense_Mutation_p.V490M|CTNND1_uc001nlo.3_Missense_Mutation_p.V389M|CTNND1_uc001nlv.3_Missense_Mutation_p.V389M	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	490	ARM 4.				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)				AATGGAGATTGTGGACCATGC	0.458													A	57571140	G	A	57571140	3	1	48	1	0	0	0	0	1	0	0	0	4019	1377	48	4	1490	4	CTNND1	11	57571140	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1835992	57571140	77435376	462	38479											
OR5B21	219968	broad.mit.edu	37	chr11	58275490	58275490	+	Frame_Shift_Del	DEL	A	A	-													gggtgatgaggtagatgaatAaaaatgccaggaggaggggt							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:58275489_58275489TA>T	uc010rki.2	-	0	90	c.90_90TA>A	c.(88-90)ttafs	p.L30fs		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 21 (OR5B21), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGTAGATGAATAAAAATGCCA	0.468													-	58275490	A	-	58275490	7	5	48	1	0	1	0	1	0	0	0	0	11151	372	13	0	842	0	OR5B21	11	58275490	Frame_Shift_Del	DEL	A	TCGA-BR-7703-01A-11D-2053-08	704350	58275490	76731026	463	38480											
NAA40	79829	broad.mit.edu	37	chr11	63719910	63719910	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagtggggctggaaggacCgagagaaacgggaggaaatg	20	5	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:63719910C>T	uc009yoz.2	+	5	410	c.283C>T	c.(283-285)CGA>TGA	p.R95*	NAA40_uc010rmw.1_Nonsense_Mutation_p.R55*|NAA40_uc010rmx.1_Nonsense_Mutation_p.R74*|NAA40_uc010rmy.1_5'Flank	NM_024771	NP_079047	Q86UY6	NAA40_HUMAN	N-acetyltransferase 11	95	N-acetyltransferase.						N-acetyltransferase activity				0						CTGGAAGGACCGAGAGAAACG	0.572													T	63719910	C	T	63719910	4	4	48	1	0	0	0	0	0	1	0	0	10125	644	23	1	301	1	NAA40	11	63719910	Nonsense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	5444420	63719910	71286606	464	38481											
CCDC88B	283234	broad.mit.edu	37	chr11	64111563	64111563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgaccacagccctcaggGcttggttcagaaggcaaggg	13	12	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:64111563G>A	uc001nzy.2	+	14	1594	c.1550G>A	c.(1549-1551)GGC>GAC	p.G517D	CCDC88B_uc009ypo.1_Missense_Mutation_p.G514D|CCDC88B_uc001nzz.1_Missense_Mutation_p.G166D	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88	517					microtubule cytoskeleton organization	cytoplasm	microtubule binding			ovary(3)|skin(1)	4						AGCCCTCAGGGCTTGGTTCAG	0.642													A	64111563	G	A	64111563	3	1	48	1	0	0	0	0	1	0	0	0	2864	1203	42	2	1604	2	CCDC88B	11	64111563	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	391653	64111563	70894953	465	38482											
SLC22A11	55867	broad.mit.edu	37	chr11	64337280	64337280	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtgctgttcttcctcccGgagacccagggacttccgct	11	14	1	1	rs34836439		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:64337280G>A	uc001oai.2	+	9	1913	c.1539G>A	c.(1537-1539)CCG>CCA	p.P513P	SLC22A11_uc001oaj.2_Intron|SLC22A11_uc009ypq.2_Silent_p.P405P	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	513	Cytoplasmic (Potential).				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)	TCTTCCTCCCGGAGACCCAGG	0.622													A	64337280	G	A	64337280	2	1	48	1	0	0	0	0	0	0	0	1	14442	1103	39	1		1	SLC22A11	11	64337280	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	225717	64337280	70669236	466	38483											
ATG2A	23130	broad.mit.edu	37	chr11	64677303	64677303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggggtccggctcaggccGcaggtcggcaatggggaagc	18	12	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:64677303G>A	uc001obx.2	-	14	2072	c.1957C>T	c.(1957-1959)CGG>TGG	p.R653W		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	653							protein binding			ovary(1)|central_nervous_system(1)	2						GGCTCAGGCCGCAGGTCGGCA	0.706													A	64677303	G	A	64677303	3	1	48	1	0	0	0	0	1	0	0	0	1093	1086	38	1	3971	1	ATG2A	11	64677303	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	340023	64677303	70329213	467	38484											
NPAS4	266743	broad.mit.edu	37	chr11	66189603	66189603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctacaggcactcctctggCgggccccacggggcttctct	11	18	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:66189603C>T	uc001ohx.1	+	2	364	c.188C>T	c.(187-189)GCG>GTG	p.A63V	NPAS4_uc010rpc.1_5'UTR	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	63					transcription, DNA-dependent		DNA binding|signal transducer activity				0						ACTCCTCTGGCGGGCCCCACG	0.567													T	66189603	C	T	66189603	3	4	48	1	0	0	0	0	1	0	0	0	10565	768	27	1	194	1	NPAS4	11	66189603	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1512300	66189603	68816913	468	38485											
RBM4	5936	broad.mit.edu	37	chr11	66407528	66407528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgaaagattatgccttcGtacacatggagcgggcagag	13	8	0	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:66407528G>A	uc009yrj.2	+	2	834	c.346G>A	c.(346-348)GTA>ATA	p.V116I	RBM4_uc009yrk.2_Intron|RBM4_uc001oiv.2_Missense_Mutation_p.V116I|RBM4_uc001oiw.1_Missense_Mutation_p.V116I|RBM4_uc001oix.1_Missense_Mutation_p.V116I|RBM4_uc010rpj.1_Missense_Mutation_p.V116I|RBM4_uc001oiy.1_Missense_Mutation_p.V116I|RBM4_uc001oiz.1_Missense_Mutation_p.V116I	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	116	RRM 2.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		TTATGCCTTCGTACACATGGA	0.527													A	66407528	G	A	66407528	3	1	48	1	0	0	0	0	1	0	0	0	13134	1145	40	1	348	1	RBM4	11	66407528	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	217925	66407528	68598988	469	38486											
PITPNM1	9600	broad.mit.edu	37	chr11	67267649	67267649	+	Frame_Shift_Del	DEL	G	G	-													cgggggaggcatctgggcctGggggggcctcaggcccatcg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:67267648_67267648TG>T	uc001olx.3	-	4	1074	c.885_885CA>A	c.(883-885)ccafs	p.P295fs	PITPNM1_uc001olw.3_5'Flank|PITPNM1_uc001oly.3_Frame_Shift_Del_p.P295fs|PITPNM1_uc001olz.3_Frame_Shift_Del_p.P295fs	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	295					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CATCTGGGCCTGGGGGGGCCT	0.692													-	67267649	G	-	67267649	7	5	48	1	0	1	0	1	0	0	0	0	11950	1348	47	0	2926	0	PITPNM1	11	67267649	Frame_Shift_Del	DEL	G	TCGA-BR-7703-01A-11D-2053-08	860121	67267649	67738867	470	38487											
ALDH3B2	222	broad.mit.edu	37	chr11	67432885	67432885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggggagctctgggggtcgtCgccatagaaacgggtgatgg	19	7	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:67432885C>T	uc001omr.2	-	7	1016	c.577G>A	c.(577-579)GAC>AAC	p.D193N	ALDH3B2_uc001oms.2_Missense_Mutation_p.D193N|ALDH3B2_uc009ysa.1_Missense_Mutation_p.D193N	NM_000695	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3B2	193					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			lung(1)|kidney(1)	2					NADH(DB00157)	TGGGGGTCGTCGCCATAGAAA	0.662													T	67432885	C	T	67432885	3	4	48	1	0	0	0	0	1	0	0	0	500	884	31	1	596	1	ALDH3B2	11	67432885	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	165236	67432885	67573631	471	38488											
ALDH3B1	221	broad.mit.edu	37	chr11	67789211	67789211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatcacccgtttctatggcGacgacccccagagctcccca	7	19	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:67789211G>A	uc010rpy.1	+	8	936	c.820G>A	c.(820-822)GAC>AAC	p.D274N	ALDH3B1_uc001omz.2_Missense_Mutation_p.D274N|ALDH3B1_uc001ona.2_Missense_Mutation_p.D237N|ALDH3B1_uc001onb.2_RNA	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3B1 isoform a	274					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase				0					NADH(DB00157)	TTTCTATGGCGACGACCCCCA	0.657											OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	67789211	G	A	67789211	3	1	48	1	0	0	0	0	1	0	0	0	499	1058	37	1	841	1	ALDH3B1	11	67789211	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	356326	67789211	67217305	472	38489											
LRP5	4041	broad.mit.edu	37	chr11	68201267	68201267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcgctgcgacggcgagGcagactgtcaggaccgctca	15	14	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:68201267G>A	uc001ont.2	+	18	4036	c.3961G>A	c.(3961-3963)GCA>ACA	p.A1321T	LRP5_uc009ysg.2_Missense_Mutation_p.A731T	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1321	LDL-receptor class A 2.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CGACGGCGAGGCAGACTGTCA	0.706													A	68201267	G	A	68201267	3	1	48	1	0	0	0	0	1	0	0	0	8960	1203	42	2	4031	2	LRP5	11	68201267	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	412056	68201267	66805249	473	38490											
MTL5	9633	broad.mit.edu	37	chr11	68478438	68478438	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtagtttggcatgctcAttagtgtctttcgttctggg	12	7	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:68478438A>G	uc001ooc.2	-	9	1378	c.1238T>C	c.(1237-1239)ATG>ACG	p.M413T		NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific isoform	413					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			ovary(2)|breast(1)	3	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TGGCATGCTCATTAGTGTCTT	0.408													G	68478438	A	G	68478438	3	3	48	1	0	0	0	0	1	0	0	0	9936	217	8	3	296	3	MTL5	11	68478438	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	277171	68478438	66528078	474	38491											
IGHMBP2	3508	broad.mit.edu	37	chr11	68704522	68704522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagcaggcctcagggcaGcagaaacttccagaaaagaa	12	10	1	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:68704522G>A	uc001ook.1	+	13	2676	c.2574G>A	c.(2572-2574)CAG>CAA	p.Q858Q	IGHMBP2_uc001ool.1_Silent_p.Q482Q|IGHMBP2_uc001oom.1_Silent_p.Q436Q	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	858	Gln/Pro-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTCAGGGCAGCAGAAACTTC	0.577													A	68704522	G	A	68704522	2	1	48	1	0	0	0	0	0	0	0	1	7591	962	34	2		2	IGHMBP2	11	68704522	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	226084	68704522	66301994	475	38492											
KRTAP5-8	57830	broad.mit.edu	37	chr11	71249165	71249165	+	Frame_Shift_Del	DEL	G	G	-													ggggctgcggctctggctgtGggggatgtggctctagctgc							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:71249164_71249164TG>T	uc001oqr.1	+	0	94	c.63_63TG>T	c.(61-63)tgtfs	p.C21fs		NM_021046	NP_066384	O75690	KRA58_HUMAN	Homo sapiens keratin associated protein 5-8 (KRTAP5-8), mRNA.	21						extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GCTCTGGCTGTGGGGGATGTG	0.657													-	71249165	G	-	71249165	7	5	48	1	0	1	0	1	0	0	0	0	8567	1348	47	0	66	0	KRTAP5-8	11	71249165	Frame_Shift_Del	DEL	G	TCGA-BR-7703-01A-11D-2053-08	2544643	71249165	63757351	476	38493											
PHOX2A	401	broad.mit.edu	37	chr11	71952153	71952153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatacacgcacctgcacgCgagcctcagtgaggtcgatc	11	14	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:71952153C>T	uc001osh.3	-	2	570	c.398G>A	c.(397-399)CGC>CAC	p.R133H		NM_005169	NP_005160	O14813	PHX2A_HUMAN	paired-like homeobox 2a	133	Homeobox.				noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CACCTGCACGCGAGCCTCAGT	0.587													T	71952153	C	T	71952153	3	4	48	1	0	0	0	0	1	0	0	0	11858	768	27	1	464	1	PHOX2A	11	71952153	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	702988	71952153	63054363	477	38494											
FAT3	120114	broad.mit.edu	37	chr11	92569759	92569759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagatgtagacagccagCccaacggacagattcatttt	9	10	1	4			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:92569759C>T	uc001pdj.3	+	15	10131	c.10114C>T	c.(10114-10116)CCC>TCC	p.P3372S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3372	Extracellular (Potential).|Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGACAGCCAGCCCAACGGACA	0.408										TCGA Ovarian(4;0.039)			T	92569759	C	T	92569759	3	4	48	1	0	0	0	0	1	0	0	0	5691	739	26	2	10172	2	FAT3	11	92569759	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	20617606	92569759	42436757	478	38495											
HEPHL1	341208	broad.mit.edu	37	chr11	93754626	93754627	+	Frame_Shift_Ins	INS	-	-	T													gttaccagaacgtactacatINStgggattgtggaagaatact							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:93754625_93754626A>AT	uc001pep.2	+	0	248_249	c.91_92A>AT	c.(91-93)attfs	p.I31fs		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	31	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AACGTACTACATTGGGATTGTG	0.475													T	93754627	-	T	93754626	7	5	48	1	0	1	1	0	0	0	0	0	7055	1493	52	0	94	0	HEPHL1	11	93754626	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	1184867	93754626	41251890	479	38496											
PGR	5241	broad.mit.edu	37	chr11	100933287	100933287	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttttgtgttgtcatgtccTgcatagatcacatctggttc	10	8	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:100933287T>C	uc001pgh.2	-	4	2846	c.2103A>G	c.(2101-2103)GCA>GCG	p.A701A	PGR_uc001pgg.2_Silent_p.A82A|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	701	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TGTCATGTCCTGCATAGATCA	0.428													C	100933287	T	C	100933287	2	2	48	1	0	0	0	0	0	0	0	1	11805	1567	55	3		3	PGR	11	100933287	Silent	SNP	T	TCGA-BR-7703-01A-11D-2053-08	7178661	100933287	34073229	480	38497											
PGR	5241	broad.mit.edu	37	chr11	100999479	100999479	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacactgtccagcagtccgCtgtccttttctgggggacta	11	12	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:100999479C>A	uc001pgh.2	-	1	1066	c.323G>T	c.(322-324)AGC>ATC	p.S108I	PGR_uc001pgi.2_Missense_Mutation_p.S108I|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	108	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CAGCAGTCCGCTGTCCTTTTC	0.632													A	100999479	C	A	100999479	3	1	48	1	0	0	0	0	1	0	0	0	11805	797	28	5	2510	5	PGR	11	100999479	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	66192	100999479	34007037	481	38498											
C11orf88	399949	broad.mit.edu	37	chr11	111385697	111385697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcagagacagcagtcagcGtctgccggtggcgcggccca	16	14	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:111385697G>A	uc001pln.3	+	1	188	c.188G>A	c.(187-189)CGT>CAT	p.R63H	BTG4_uc001plj.2_5'Flank|BTG4_uc001plk.2_5'Flank|C11orf88_uc009yyd.2_Missense_Mutation_p.R63H|C11orf88_uc001plo.1_Missense_Mutation_p.R63H	NM_001100388	NP_001093858	Q6PI97	CK088_HUMAN	hypothetical protein LOC399949 isoform 2	63											0						AGCAGTCAGCGTCTGCCGGTG	0.592											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	111385697	G	A	111385697	3	1	48	1	0	0	0	0	1	0	0	0	1670	1145	40	1	190	1	C11orf88	11	111385697	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	10386218	111385697	23620819	482	38499											
LAYN	143903	broad.mit.edu	37	chr11	111431078	111431078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtttgtgactctggtgagCgtggagagtggatttgtgac	18	4	1	4			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:111431078C>T	uc001plr.1	+	8	1380	c.1044C>T	c.(1042-1044)AGC>AGT	p.S348S	LAYN_uc001plp.1_Silent_p.S340S|LAYN_uc001plq.1_3'UTR|LAYN_uc001pls.1_3'UTR|LAYN_uc010rwg.1_Silent_p.S195S|LAYN_uc010rwh.1_Silent_p.S196S	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	layilin	348	Cytoplasmic (Potential).|3 X 5 AA repeats of E-S-G-X-V.|Interaction with NF2 (By similarity).|Interaction with TLN1 (By similarity).					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding				0		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		CTCTGGTGAGCGTGGAGAGTG	0.478													T	111431078	C	T	111431078	2	4	48	1	0	0	0	0	0	0	0	1	8649	767	27	1		1	LAYN	11	111431078	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	45381	111431078	23575438	483	38500											
FAM55A	120400	broad.mit.edu	37	chr11	114401086	114401086	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccacattcagtgaagacaTgagaggtgccattaacaaat	10	8	1	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:114401086T>C	uc001ppa.2	-	3	635	c.218A>G	c.(217-219)CAT>CGT	p.H73R	FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.H215R	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	215						extracellular region					0		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		AGTGAAGACATGAGAGGTGCC	0.453													C	114401086	T	C	114401086	3	2	48	1	0	0	0	0	1	0	0	0	5584	1464	51	3	1015	3	FAM55A	11	114401086	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	2970008	114401086	20605430	484	38501											
FAM55D	54827	broad.mit.edu	37	chr11	114442042	114442042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagttctgtcaatggccCgggtgaggtactccatctct	10	13	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:114442042C>T	uc001ppc.2	-	6	1434	c.1253G>A	c.(1252-1254)CGG>CAG	p.R418Q	FAM55D_uc001ppd.2_Missense_Mutation_p.R134Q	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	418						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		GTCAATGGCCCGGGTGAGGTA	0.433													T	114442042	C	T	114442042	3	4	48	1	0	0	0	0	1	0	0	0	5587	652	23	1	385	1	FAM55D	11	114442042	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	40956	114442042	20564474	485	38502											
HYOU1	10525	broad.mit.edu	37	chr11	118918526	118918527	+	Frame_Shift_Ins	INS	-	-	C													atctctgggatgagccgggcINSccccctggaagccagaaagg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:118918525_118918526G>GC	uc001puu.2	-	21	2708_2709	c.2515_2516C>GC	c.(2515-2517)gccfs	p.A839fs	HYOU1_uc001put.2_Frame_Shift_Ins_p.A804fs|HYOU1_uc010ryu.1_Frame_Shift_Ins_p.A797fs|HYOU1_uc010ryv.1_Frame_Shift_Ins_p.A728fs|HYOU1_uc001pux.3_Frame_Shift_Ins_p.A839fs	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	Homo sapiens hypoxia up-regulated 1 (HYOU1), transcript variant 1, mRNA.	839						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GATGAGCCGGGCCCCCCTGGAA	0.54													C	118918527	-	C	118918526	7	5	48	1	0	1	1	0	0	0	0	0	7470	739	26	0	504	0	HYOU1	11	118918526	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	4476484	118918526	16087990	486	38503											
CBL	867	broad.mit.edu	37	chr11	119146846	119146846	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggcttcagggaaggcttgTgagtacctactgcataccat	11	9	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:119146846T>C	uc001pwe.2	+	6	1145	c.1007_splice	c.e6+2	p.F336_splice		NM_005188	NP_005179	P22681	CBL_HUMAN	Cas-Br-M (murine) ecotropic retroviral						epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GGAAGGCTTGTGAGTACCTAC	0.443									CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome				C	119146846	T	C	119146846	5	2	48	1	0	0	0	0	0	0	1	0	2700	1710	59	3	1031	3	CBL	11	119146846	Splice_Site	SNP	T	TCGA-BR-7703-01A-11D-2053-08	228320	119146846	15859670	487	38504											
OR4D5	219875	broad.mit.edu	37	chr11	123811133	123811133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattccccatggacaaggcCgtctctgtgctatacacaat	7	13	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:123811133C>T	uc001pzk.1	+	1	810	c.810C>T	c.(808-810)GCC>GCT	p.A270A		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D,	270	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGACAAGGCCGTCTCTGTGC	0.488													T	123811133	C	T	123811133	2	4	48	1	0	0	0	0	0	0	0	1	11057	639	23	1		1	OR4D5	11	123811133	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	4664287	123811133	11195383	488	38505											
VWA5A	4013	broad.mit.edu	37	chr11	124005694	124005694	+	Frame_Shift_Del	DEL	G	G	-													aaggtattgcccgggcatcaGggggcacctcagaatttatc							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:124005693_124005693AG>A	uc001pzu.3	+	11	1520	c.1311_1311AG>A	c.(1309-1311)tcafs	p.S437fs	VWA5A_uc001pzt.3_Frame_Shift_Del_p.S437fs	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	437	VWFA.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CCCGGGCATCAGGGGGCACCT	0.502													-	124005694	G	-	124005694	7	5	48	1	0	1	0	1	0	0	0	0	17239	1000	35	0	1354	0	VWA5A	11	124005694	Frame_Shift_Del	DEL	G	TCGA-BR-7703-01A-11D-2053-08	194561	124005694	11000822	489	38506											
OR8D2	283160	broad.mit.edu	37	chr11	124189676	124189676	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccatcattatggaacagaCcctgtgggacatgacaatat	9	9	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:124189676C>A	uc010sah.1	-	1	418	c.418G>T	c.(418-420)GTC>TTC	p.V140F		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D,	140	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|pancreas(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		ATGGAACAGACCCTGTGGGAC	0.458													A	124189676	C	A	124189676	3	1	48	1	0	0	0	0	1	0	0	0	11232	507	18	5	520	5	OR8D2	11	124189676	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	183982	124189676	10816840	490	38507											
ACRV1	56	broad.mit.edu	37	chr11	125548009	125548009	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaagtgtgctcggccacaGtgtgcttgcttgaaccatgc	12	11	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:125548009G>T	uc001qcs.2	-	2	503	c.236C>A	c.(235-237)ACT>AAT	p.T79N	ACRV1_uc001qck.2_Intron|ACRV1_uc001qcl.2_Intron|ACRV1_uc001qcm.2_Intron|ACRV1_uc001qcn.2_Intron|ACRV1_uc001qco.2_Intron|ACRV1_uc001qcp.2_Intron|ACRV1_uc001qcq.2_Intron|ACRV1_uc001qcr.2_Missense_Mutation_p.T79N	NM_001612	NP_001603	P26436	ASPX_HUMAN	acrosomal vesicle protein 1 isoform a precursor	79	3 X 5 AA repeats of S-E-H-[GA]-S.				multicellular organismal development	acrosomal vesicle					0	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		CTCGGCCACAGTGTGCTTGCT	0.502													T	125548009	G	T	125548009	3	4	48	1	0	0	0	0	1	0	0	0	172	1029	36	5	573	5	ACRV1	11	125548009	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1358333	125548009	9458507	491	38508											
TIRAP	114609	broad.mit.edu	37	chr11	126162737	126162737	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtagtcactgccgggtgCtgctcatcacgccgggcttc	13	14	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:126162737C>T	uc001qdm.1	+	5	885	c.433C>T	c.(433-435)CTG>TTG	p.L145L	TIRAP_uc001qdl.1_Silent_p.L145L|TIRAP_uc009zcb.1_Silent_p.L145L|TIRAP_uc001qdn.1_Silent_p.L145L|TIRAP_uc001qdo.1_Silent_p.L145L	NM_001039661	NP_001034750	P58753	TIRAP_HUMAN	Toll-interleukin 1 receptor domain-containing	145	TIR.				3'-UTR-mediated mRNA stabilization|cellular response to bacterial lipopeptide|cellular response to lipoteichoic acid|defense response to Gram-positive bacterium|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|myeloid cell differentiation|negative regulation of growth of symbiont in host|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 1 production|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-12 production|positive regulation of interleukin-15 production|positive regulation of interleukin-6 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein homodimerization activity|positive regulation of toll-like receptor 2 signaling pathway|positive regulation of toll-like receptor 3 signaling pathway|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|regulation of interferon-beta production|response to lipopolysaccharide|TIRAP-dependent toll-like receptor 4 signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway	endocytic vesicle|intrinsic to membrane|ruffle membrane	phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|protein heterodimerization activity|protein homodimerization activity|protein kinase C delta binding|Toll-like receptor 2 binding|Toll-like receptor 4 binding|transmembrane receptor activity			ovary(1)	1	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		CTGCCGGGTGCTGCTCATCAC	0.662													T	126162737	C	T	126162737	2	4	48	1	0	0	0	0	0	0	0	1	15924	796	28	2		2	TIRAP	11	126162737	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	614728	126162737	8843779	492	38509											
ST14	6768	broad.mit.edu	37	chr11	130069878	130069878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcattcacgagacaggctCgtgttgttgggggcacggat	16	8	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:130069878C>T	uc001qfw.2	+	16	2033	c.1840C>T	c.(1840-1842)CGT>TGT	p.R614C		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	matriptase	614	Extracellular (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|skin(2)|central_nervous_system(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GAGACAGGCTCGTGTTGTTGG	0.612													T	130069878	C	T	130069878	3	4	48	1	0	0	0	0	1	0	0	0	15210	884	31	1	1902	1	ST14	11	130069878	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	3907141	130069878	4936638	493	38510											
IGSF9B	22997	broad.mit.edu	37	chr11	133791120	133791120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggcctctgccttggccaCgctgtacttcttgctgctga	10	15	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:133791120C>T	uc001qgx.3	-	18	2731	c.2500G>A	c.(2500-2502)GTG>ATG	p.V834M		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	834	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCCTTGGCCACGCTGTACTTC	0.657													T	133791120	C	T	133791120	3	4	48	1	0	0	0	0	1	0	0	0	7606	536	19	1	1557	1	IGSF9B	11	133791120	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	3721242	133791120	1215396	494	38511											
IQSEC3	440073	broad.mit.edu	37	chr12	274932	274932	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactggtgaccccgctctcGggctccgagaagaagcaggt	13	13	1	3	rs115184339	by1000genomes	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:274932G>A	uc001qhw.1	+	8	1944	c.1938G>A	c.(1936-1938)TCG>TCA	p.S646S	IQSEC3_uc001qhu.1_Silent_p.S646S	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	949	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCCCGCTCTCGGGCTCCGAGA	0.617													A	274932	G	A	274932	2	1	48	1	0	0	0	0	0	0	0	1	7819	1103	39	1		1	IQSEC3	12	274932	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08		274932	133576963	495	38512											
DCP1B	196513	broad.mit.edu	37	chr12	2062122	2062122	+	Frame_Shift_Del	DEL	A	A	-													cctggctggacaggtcctgtAaaaaattctcccgcagaatg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:2062122delA	uc001qjx.1	-	7	1064	c.984delT	c.(982-984)TTTfs	p.F328fs	DCP1B_uc010sdy.1_Frame_Shift_Del_p.F226fs	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	328					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			CAGGTCCTGTAAAAAATTCTC	0.493													-	2062122	A	-	2062122	7	5	48	1	0	1	0	1	0	0	0	0	4299	359	13	0	881	0	DCP1B	12	2062122	Frame_Shift_Del	DEL	A	TCGA-BR-7703-01A-11D-2053-08	1787190	2062122	131789773	496	38513											
C12orf5	57103	broad.mit.edu	37	chr12	4460522	4460522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccctgtgtttacaccgccCggaggagagacgctggacca	13	13	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:4460522C>T	uc001qmp.2	+	5	439	c.360C>T	c.(358-360)CCC>CCT	p.P120P		NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	TP53-induced glycolysis and apoptosis regulator	120						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			skin(1)	1			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			TTACACCGCCCGGAGGAGAGA	0.498													T	4460522	C	T	4460522	2	4	48	1	0	0	0	0	0	0	0	1	1694	639	23	1		1	C12orf5	12	4460522	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2398400	4460522	129391373	497	38514											
GPR162	27239	broad.mit.edu	37	chr12	6936082	6936082	+	Frame_Shift_Del	DEL	C	C	-													ttctggggtcaggtgggggaCccccacggggtcctggcttc							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:6936082delC	uc001qqw.1	+	5	2015	c.1480delC	c.(1480-1482)CCCfs	p.P494fs	LEPREL2_uc001qqz.1_5'Flank|LEPREL2_uc001qra.1_5'Flank|LEPREL2_uc001qrb.1_5'Flank|GPR162_uc001qqx.1_Frame_Shift_Del_p.P210fs|GPR162_uc009zfd.1_Frame_Shift_Del_p.P190fs|GPR162_uc001qqy.1_Intron	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	494	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AGGTGGGGGACCCCCACGGGG	0.637													-	6936082	C	-	6936082	7	5	48	1	0	1	0	1	0	0	0	0	6666	507	18	0	1513	0	GPR162	12	6936082	Frame_Shift_Del	DEL	C	TCGA-BR-7703-01A-11D-2053-08	2475560	6936082	126915813	498	38515											
A2ML1	144568	broad.mit.edu	37	chr12	9001489	9001489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcgttctctgaaggcacGgaccttttcagctttttccg	8	14	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:9001489G>A	uc001quz.3	+	16	2105	c.2007G>A	c.(2005-2007)ACG>ACA	p.T669T	A2ML1_uc001qva.1_Silent_p.T249T|A2ML1_uc010sgm.1_Silent_p.T169T	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	513						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						CTGAAGGCACGGACCTTTTCA	0.507													A	9001489	G	A	9001489	2	1	48	1	0	0	0	0	0	0	0	1	5	1103	39	1		1	A2ML1	12	9001489	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2065407	9001489	124850406	499	38516											
PTPRO	5800	broad.mit.edu	37	chr12	15636953	15636953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaagatgataataacatcGttgtctcattagaagcttca	6	8	2	3	rs141750255		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:15636953G>A	uc001rcv.1	+	2	295	c.121G>A	c.(121-123)GTT>ATT	p.V41I	PTPRO_uc001rcw.1_Missense_Mutation_p.V41I|PTPRO_uc001rcu.1_Missense_Mutation_p.V41I	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	41	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				TAATAACATCGTTGTCTCATT	0.348													A	15636953	G	A	15636953	3	1	48	1	0	0	0	0	1	0	0	0	12809	1145	40	1	127	1	PTPRO	12	15636953	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	6635464	15636953	118214942	500	38517											
SLCO1B1	10599	broad.mit.edu	37	chr12	21325709	21325709	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcttgttggttttattgaCggaagctttgaaattggtaa	10	4	1	2	rs148697674		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:21325709C>T	uc001req.3	+	3	314	c.210C>T	c.(208-210)GAC>GAT	p.D70D		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	70	Helical; Name=2; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GTTTTATTGACGGAAGCTTTG	0.264													T	21325709	C	T	21325709	2	4	48	1	0	0	0	0	0	0	0	1	14723	535	19	1		1	SLCO1B1	12	21325709	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	5688756	21325709	112526186	501	38518											
GYS2	2998	broad.mit.edu	37	chr12	21712082	21712082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatctcgatctaaaatatcGttcaggtcaggaatttctcc	6	10	6	0	rs139882761	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:21712082G>A	uc001rfb.2	-	10	1506	c.1251C>T	c.(1249-1251)AAC>AAT	p.N417N		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	417					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			lung(1)|skin(1)	2						CTAAAATATCGTTCAGGTCAG	0.328													A	21712082	G	A	21712082	2	1	48	1	0	0	0	0	0	0	0	1	6913	1136	40	1		1	GYS2	12	21712082	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	386373	21712082	112139813	502	38519											
ST8SIA1	6489	broad.mit.edu	37	chr12	22486986	22486986	+	Frame_Shift_Del	DEL	C	C	-													cgccgtgccctgttgcagcaCcccctgcacgatctctttct							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:22486985_22486985AC>A	uc001rfo.4	-	0	664	c.182_182GT>T	c.(181-183)gtgfs	p.V61fs	ST8SIA1_uc009zix.3_5'UTR	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA.	61					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CTGTTGCAGCACCCCCTGCAC	0.647													-	22486986	C	-	22486986	7	5	48	1	0	1	0	1	0	0	0	0	15230	507	18	0	909	0	ST8SIA1	12	22486986	Frame_Shift_Del	DEL	C	TCGA-BR-7703-01A-11D-2053-08	774904	22486986	111364909	503	38520											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:25398284C>T	uc001rgp.1	-	2	216	c.35G>A	c.(34-36)GGT>GAT	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25398284	C	T	25398284	3	4	48	1	0	0	0	0	1	0	0	0	8438	507	18	4	671	4	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2911298	25398284	108453611	504	38521											
IPO8	10526	broad.mit.edu	37	chr12	30816463	30816463	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagactgaagagcaagggcAgcttcaactttgacaggcat	11	8	1	4			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:30816463A>G	uc001rjd.2	-	14	1724	c.1554T>C	c.(1552-1554)GCT>GCC	p.A518A	IPO8_uc001rje.1_Silent_p.A7A|IPO8_uc010sjt.1_Silent_p.A313A	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	518					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAGCAAGGGCAGCTTCAACTT	0.358													G	30816463	A	G	30816463	2	3	48	1	0	0	0	0	0	0	0	1	7798	175	7	3		3	IPO8	12	30816463	Silent	SNP	A	TCGA-BR-7703-01A-11D-2053-08	5418179	30816463	103035432	505	38522											
TSPAN11	441631	broad.mit.edu	37	chr12	31135587	31135587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacagtggtggtgcgctgcGgccagcgggcccacccctcc	15	16	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:31135587G>A	uc010sju.1	+	6	957	c.577G>A	c.(577-579)GGC>AGC	p.G193S	TSPAN11_uc001rjp.2_Missense_Mutation_p.G193S|TSPAN11_uc010sjv.1_Missense_Mutation_p.G183S	NM_001080509	NP_001073978	A1L157	TSN11_HUMAN	tetraspanin 11	193						integral to membrane					0	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGTGCGCTGCGGCCAGCGGGC	0.672													A	31135587	G	A	31135587	3	1	48	1	0	0	0	0	1	0	0	0	16632	1116	39	1	595	1	TSPAN11	12	31135587	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	319124	31135587	102716308	506	38523											
C12orf72	254013	broad.mit.edu	37	chr12	31820818	31820818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccagttcagtggacacaGcattcagcatcacctgcaca	8	15	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:31820818G>A	uc009zjr.2	+	4	892	c.683G>A	c.(682-684)AGC>AAC	p.S228N	C12orf72_uc001rkl.2_Missense_Mutation_p.S228N|C12orf72_uc001rkm.2_Missense_Mutation_p.S228N	NM_001135864	NP_001129336	Q8IXQ9	MET20_HUMAN	hypothetical protein LOC254013	228						cytoplasm	protein methyltransferase activity				0						AGTGGACACAGCATTCAGCAT	0.488													A	31820818	G	A	31820818	3	1	48	1	0	0	0	0	1	0	0	0	1713	971	34	2	693	2	C12orf72	12	31820818	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	685231	31820818	102031077	507	38524											
PKP2	5318	broad.mit.edu	37	chr12	32974415	32974415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgccacagccactccaCgcccttggggttgctctttt	10	14	1	0	rs143038626		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:32974415C>T	uc001rlj.3	-	10	2135	c.2020G>A	c.(2020-2022)GTG>ATG	p.V674M	PKP2_uc001rlk.3_Missense_Mutation_p.V630M|PKP2_uc010skj.1_Missense_Mutation_p.V627M	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	674	ARM 5.				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGCCACTCCACGCCCTTGGGG	0.493													T	32974415	C	T	32974415	3	4	48	1	0	0	0	0	1	0	0	0	11985	536	19	1	645	1	PKP2	12	32974415	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1153597	32974415	100877480	508	38525											
ABCD2	225	broad.mit.edu	37	chr12	39997743	39997745	+	In_Frame_Del	DEL	CTC	CTC	-													tagcctggaagccaccacttCtcctgctggtgtaattatgg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:39997743_39997745delCTC	uc001rmb.2	-	5	1895_1897	c.1469_1471delGAG	c.(1468-1473)GGAGAA>GAA	p.G490del		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D, member 2	490	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						GCCACCACTTCTCCTGCTGGTGT	0.34													-	39997745	CTC	-	39997743	7	5	48	1	0	1	0	1	0	0	0	0	61	922	32	0	775	0	ABCD2	12	39997743	In_Frame_Del	DEL	CTC	TCGA-BR-7703-01A-11D-2053-08	7023328	39997743	93854152	509	38526											
CACNB3	784	broad.mit.edu	37	chr12	49220259	49220259	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagctggccaagacctcGctggcccccatcatcgtctt	9	17	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:49220259G>A	uc001rsl.1	+	10	1053	c.852G>A	c.(850-852)TCG>TCA	p.S284S	CACNB3_uc010sly.1_Silent_p.S271S|CACNB3_uc010slz.1_Silent_p.S283S|CACNB3_uc001rsk.1_Silent_p.S131S	NM_000725	NP_000716	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3	284					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity				0					Verapamil(DB00661)	CCAAGACCTCGCTGGCCCCCA	0.547													A	49220259	G	A	49220259	2	1	48	1	0	0	0	0	0	0	0	1	2554	1074	38	1		1	CACNB3	12	49220259	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	9222516	49220259	84631636	510	38527											
SMARCD1	6602	broad.mit.edu	37	chr12	50481152	50481152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgccttcctcagcaaaaaCggaagctgcgaattttcatt	7	11	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:50481152C>T	uc001rvx.3	+	5	708	c.538C>T	c.(538-540)CGG>TGG	p.R180W	SMARCD1_uc010smo.1_Missense_Mutation_p.R180W|SMARCD1_uc001rvy.3_Missense_Mutation_p.R180W|SMARCD1_uc009zlp.2_Intron	NM_003076	NP_003067	Q96GM5	SMRD1_HUMAN	SWI/SNF-related matrix-associated	180	Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.|Interaction with SMARCC1 and SMARCC2.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			ovary(1)	1						TCAGCAAAAACGGAAGCTGCG	0.502													T	50481152	C	T	50481152	3	4	48	1	0	0	0	0	1	0	0	0	14777	527	19	1	556	1	SMARCD1	12	50481152	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1260893	50481152	83370743	511	38528											
TMPRSS12	283471	broad.mit.edu	37	chr12	51279034	51279034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttttgttaacaggtaacGctacaaatattttacaagat	5	5	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:51279034G>A	uc001rwx.3	+	4	705	c.658G>A	c.(658-660)GCT>ACT	p.A220T	TMPRSS12_uc001rwy.2_Missense_Mutation_p.A220T	NM_182559	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane protease, serine 12 precursor	220	Peptidase S1.|Extracellular (Potential).				proteolysis	integral to membrane	serine-type endopeptidase activity				0						AACAGGTAACGCTACAAATAT	0.323													A	51279034	G	A	51279034	3	1	48	1	0	0	0	0	1	0	0	0	16241	1087	38	1	672	1	TMPRSS12	12	51279034	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	797882	51279034	82572861	512	38529											
SCN8A	6334	broad.mit.edu	37	chr12	52200233	52200233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgccctgttcaacatcGgccttctgctcttcctggtc	8	16	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:52200233G>A	uc001ryw.2	+	27	5141	c.4963G>A	c.(4963-4965)GGC>AGC	p.G1655S		NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	1655	IV.|Helical; Name=S5 of repeat IV; (Potential).				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GTTCAACATCGGCCTTCTGCT	0.493													A	52200233	G	A	52200233	3	1	48	1	0	0	0	0	1	0	0	0	13924	1116	39	1	5065	1	SCN8A	12	52200233	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	921199	52200233	81651662	513	38530											
ACVR1B	91	broad.mit.edu	37	chr12	52385715	52385715	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccttccattgaggaaatgCgaaaggttgtatgtgatcag	11	7	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:52385715C>T	uc001rzn.2	+	8	1372	c.1330C>T	c.(1330-1332)CGA>TGA	p.R444*	ACVR1B_uc001rzm.2_Nonsense_Mutation_p.R444*|ACVR1B_uc010snn.1_Nonsense_Mutation_p.R485*	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	444	Protein kinase.|Cytoplasmic (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	p.R485*(1)		pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TGAGGAAATGCGAAAGGTTGT	0.488													T	52385715	C	T	52385715	4	4	48	1	0	0	0	0	0	1	0	0	221	760	27	1	1487	1	ACVR1B	12	52385715	Nonsense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	185482	52385715	81466180	514	38531											
SOAT2	8435	broad.mit.edu	37	chr12	53516883	53516883	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccttggtgcccgggccCgaggggtagccatgctgggt	17	12	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:53516883C>T	uc001sbv.2	+	13	1343	c.1255C>T	c.(1255-1257)CGA>TGA	p.R419*	SOAT2_uc009zms.2_RNA	NM_003578	NP_003569	O75908	SOAT2_HUMAN	acyl-CoA:cholesterol acyltransferase 2	419					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			ovary(1)	1						TGCCCGGGCCCGAGGGGTAGC	0.542													T	53516883	C	T	53516883	4	4	48	1	0	0	0	0	0	1	0	0	14911	644	23	1	1305	1	SOAT2	12	53516883	Nonsense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1131168	53516883	80335012	515	38532											
HOXC12	3228	broad.mit.edu	37	chr12	54348881	54348881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgctccctgtcctggccGtcggcggagccgtgcaatgg	16	13	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:54348881G>A	uc010soq.1	+	1	168	c.168G>A	c.(166-168)CCG>CCA	p.P56P		NM_173860	NP_776272	P31275	HXC12_HUMAN	homeobox C12	56					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1						TGTCCTGGCCGTCGGCGGAGC	0.701													A	54348881	G	A	54348881	2	1	48	1	0	0	0	0	0	0	0	1	7311	1132	40	1		1	HOXC12	12	54348881	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	831998	54348881	79503014	516	38533											
HOXC5	3222	broad.mit.edu	37	chr12	54428224	54428224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagatctggttccagaaccGcaggatgaagtggaagaaag	13	7	1	4			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:54428224G>A	uc001sew.2	+	2	692	c.617G>A	c.(616-618)CGC>CAC	p.R206H	HOXC5_uc001set.2_RNA|HOXC4_uc001seu.2_Intron	NM_018953	NP_061826	Q00444	HXC5_HUMAN	homeobox C5	206	Homeobox.				regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TTCCAGAACCGCAGGATGAAG	0.537													A	54428224	G	A	54428224	3	1	48	1	0	0	0	0	1	0	0	0	7314	1087	38	1	623	1	HOXC5	12	54428224	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	79343	54428224	79423671	517	38534											
ZNF385A	25946	broad.mit.edu	37	chr12	54764440	54764440	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccggcgcccctagacttcttGtgacggctcagtagtgggtt	13	12	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:54764440G>C	uc001sfw.1	-	6	1023	c.840C>G	c.(838-840)CAC>CAG	p.H280Q	ZNF385A_uc001sfv.1_Missense_Mutation_p.H261Q|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Missense_Mutation_p.H199Q|ZNF385A_uc001sfx.1_Missense_Mutation_p.H280Q|ZNF385A_uc001sfy.3_Missense_Mutation_p.H300Q|ZNF385A_uc001sfz.3_Missense_Mutation_p.H219Q	NM_015481	NP_056296	Q96PM9	Z385A_HUMAN	zinc finger protein 385A isoform c	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1						TAGACTTCTTGTGACGGCTCA	0.697											OREG0021894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	54764440	G	C	54764440	3	2	48	1	0	0	0	0	1	0	0	0	17873	1368	48	5	268	5	ZNF385A	12	54764440	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	336216	54764440	79087455	518	38535			1	10		5	5	869	G		1.359788e-08
ZNF385A	25946	broad.mit.edu	37	chr12	54764723	54764723	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agacccacctgtttcagttgGacctccgagttgaccttgac	9	13	1	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:54764723G>C	uc001sfw.1	-	5	945	c.762C>G	c.(760-762)GTC>GTG	p.V254V	ZNF385A_uc001sfv.1_Silent_p.V235V|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Silent_p.V173V|ZNF385A_uc001sfx.1_Silent_p.V254V|ZNF385A_uc001sfy.3_Silent_p.V274V|ZNF385A_uc001sfz.3_Silent_p.V193V	NM_015481	NP_056296	Q96PM9	Z385A_HUMAN	zinc finger protein 385A isoform c	254	Matrin-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1						GTTTCAGTTGGACCTCCGAGT	0.602											OREG0021894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	54764723	G	C	54764723	2	2	48	1	0	0	0	0	0	0	0	1	17873	1161	41	5		5	ZNF385A	12	54764723	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	283	54764723	79087172	519	38536			1	10		5	5	869	G		1.359788e-08
ZNF385A	25946	broad.mit.edu	37	chr12	54764782	54764782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaagttcggtcctgggcagGagcctctggttcccccgggg	16	12	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:54764782G>A	uc001sfw.1	-	5	886	c.703C>T	c.(703-705)CCT>TCT	p.P235S	ZNF385A_uc001sfv.1_Missense_Mutation_p.P216S|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Missense_Mutation_p.P154S|ZNF385A_uc001sfx.1_Missense_Mutation_p.P235S|ZNF385A_uc001sfy.3_Missense_Mutation_p.P255S|ZNF385A_uc001sfz.3_Missense_Mutation_p.P174S	NM_015481	NP_056296	Q96PM9	Z385A_HUMAN	zinc finger protein 385A isoform c	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1						TCCTGGGCAGGAGCCTCTGGT	0.582													A	54764782	G	A	54764782	3	1	48	1	0	0	0	0	1	0	0	0	17873	1174	41	4	409	4	ZNF385A	12	54764782	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	59	54764782	79087113	520	38537			1	10		5	5	869	G		1.359788e-08
ZNF385A	25946	broad.mit.edu	37	chr12	54764831	54764831	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cccagccgagggtaagctttGatgggcccgagcccacttcg	13	14	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:54764831G>C	uc001sfw.1	-	5	837	c.654C>G	c.(652-654)ATC>ATG	p.I218M	ZNF385A_uc001sfv.1_Missense_Mutation_p.I199M|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Missense_Mutation_p.I137M|ZNF385A_uc001sfx.1_Missense_Mutation_p.I218M|ZNF385A_uc001sfy.3_Missense_Mutation_p.I238M|ZNF385A_uc001sfz.3_Missense_Mutation_p.I157M	NM_015481	NP_056296	Q96PM9	Z385A_HUMAN	zinc finger protein 385A isoform c	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1						GGTAAGCTTTGATGGGCCCGA	0.582													C	54764831	G	C	54764831	3	2	48	1	0	0	0	0	1	0	0	0	17873	1280	45	5	458	5	ZNF385A	12	54764831	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	49	54764831	79087064	521	38538			1	10		5	5	869	G		1.359788e-08
ZNF385A	25946	broad.mit.edu	37	chr12	54765308	54765308	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gttcacagccaccttgcacaGagcacagtagagcagccgct	10	14	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:54765308G>C	uc001sfw.1	-	4	736	c.553C>G	c.(553-555)CTG>GTG	p.L185V	ZNF385A_uc001sfv.1_Missense_Mutation_p.L166V|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Intron|ZNF385A_uc001sfx.1_Missense_Mutation_p.L185V|ZNF385A_uc001sfy.3_Missense_Mutation_p.L205V|ZNF385A_uc001sfz.3_Intron	NM_015481	NP_056296	Q96PM9	Z385A_HUMAN	zinc finger protein 385A isoform c	185	Matrin-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1						ACCTTGCACAGAGCACAGTAG	0.612													C	54765308	G	C	54765308	3	2	48	1	0	0	0	0	1	0	0	0	17873	933	33	5	563	5	ZNF385A	12	54765308	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	477	54765308	79086587	522	38539			1	10		5	5	869	G		1.359788e-08
DCD	117159	broad.mit.edu	37	chr12	55038966	55038966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catatactcacctttacccaCgctttctagatcttcgactg	4	14	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:55038966C>T	uc001sgj.2	-	4	342	c.280G>A	c.(280-282)GTG>ATG	p.V94M	DCD_uc009znt.2_Missense_Mutation_p.V94M|DCD_uc009znu.2_RNA	NM_053283	NP_444513	P81605	DCD_HUMAN	dermcidin preproprotein	94					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			ovary(1)	1		Myeloproliferative disorder(1001;0.0255)				CCTTTACCCACGCTTTCTAGA	0.512													T	55038966	C	T	55038966	3	4	48	1	0	0	0	0	1	0	0	0	4283	536	19	1	60	1	DCD	12	55038966	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	273658	55038966	78812929	523	38540											
TIMELESS	8914	broad.mit.edu	37	chr12	56815753	56815753	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgatctgcttgcgtgttcGaggaacagtattcaggtggg	15	6	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:56815753G>A	uc001slf.2	-	21	2740	c.2572C>T	c.(2572-2574)CGA>TGA	p.R858*		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	858					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						TTGCGTGTTCGAGGAACAGTA	0.547													A	56815753	G	A	56815753	4	1	48	1	0	0	0	0	0	1	0	0	15901	1066	37	1	1090	1	TIMELESS	12	56815753	Nonsense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1776787	56815753	77036142	524	38541											
LRP1	4035	broad.mit.edu	37	chr12	57569406	57569406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaatgcagccaaaagtgCgaccagaacaagttcagcgt	9	11	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:57569406C>T	uc001snd.2	+	23	4177	c.3711C>T	c.(3709-3711)TGC>TGT	p.C1237C		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1237	Extracellular (Potential).|EGF-like 6.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCAAAAGTGCGACCAGAACA	0.592											OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	57569406	C	T	57569406	2	4	48	1	0	0	0	0	0	0	0	1	8951	776	27	1		1	LRP1	12	57569406	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	753653	57569406	76282489	525	38542											
LRP1	4035	broad.mit.edu	37	chr12	57572242	57572242	+	Frame_Shift_Del	DEL	G	G	-													cgtttgcagtgacgctgtacGggggggaggtctactggact					rs139915490		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:57572241_57572241CG>C	uc001snd.3	+	26	4927	c.4461_4461CG>C	c.(4459-4461)tacfs	p.Y1487fs		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1487					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGG	0.592													-	57572242	G	-	57572242	7	5	48	1	0	1	0	1	0	0	0	0	8951	1116	39	0	4568	0	LRP1	12	57572242	Frame_Shift_Del	DEL	G	TCGA-BR-7703-01A-11D-2053-08	2836	57572242	76279653	526	38543											
GEFT	115557	broad.mit.edu	37	chr12	58009785	58009785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagatcttggagagccaaCgggacttcctcaacggtgaa	11	11	3	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:58009785C>T	uc001spb.2	+	13	1865	c.1405C>T	c.(1405-1407)CGG>TGG	p.R469W	GEFT_uc009zpy.2_Missense_Mutation_p.R508W|GEFT_uc001spa.2_Missense_Mutation_p.R363W|uc001spc.2_Intron|GEFT_uc001spd.2_Missense_Mutation_p.R174W	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	RhoA/RAC/CDC42 exchange factor isoform 1	469	Sufficient to bind activated GNAQ.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity				0	Melanoma(17;0.122)					GGAGAGCCAACGGGACTTCCT	0.572													T	58009785	C	T	58009785	3	4	48	1	0	0	0	0	1	0	0	0	6328	527	19	1	1677	1	GEFT	12	58009785	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	437543	58009785	75842110	527	38544											
SLC6A15	55117	broad.mit.edu	37	chr12	85279797	85279797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagagttccaagaaaaaaaGgggaatacctattaccataa	8	6	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:85279797G>A	uc001szv.2	-	3	833	c.340C>T	c.(340-342)CTT>TTT	p.L114F	SLC6A15_uc010sul.1_Missense_Mutation_p.L7F|SLC6A15_uc001szy.2_Missense_Mutation_p.L114F	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	114	Helical; Name=2; (Potential).				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3						AAGAAAAAAAGGGGAATACCT	0.353													A	85279797	G	A	85279797	3	1	48	1	0	0	0	0	1	0	0	0	14678	1000	35	4	2006	4	SLC6A15	12	85279797	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	27270012	85279797	48572098	528	38545											
DCN	1634	broad.mit.edu	37	chr12	91550892	91550892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtatcagcaatgcggatGtaggagagcttcttcattcc	11	8	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:91550892G>A	uc001tbs.2	-	4	706	c.612C>T	c.(610-612)TAC>TAT	p.Y204Y	DCN_uc001tbo.2_Silent_p.Y95Y|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Silent_p.Y204Y|DCN_uc001tbu.2_Silent_p.Y204Y	NM_133503	NP_598010	P07585	PGS2_HUMAN	decorin isoform a preproprotein	204	LRR 6.				organ morphogenesis	extracellular space				central_nervous_system(2)|ovary(1)|lung(1)	4						CAATGCGGATGTAGGAGAGCT	0.383													A	91550892	G	A	91550892	2	1	48	1	0	0	0	0	0	0	0	1	4297	1372	48	4		4	DCN	12	91550892	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	6271095	91550892	42301003	529	38546											
CDK17	5128	broad.mit.edu	37	chr12	96682999	96682999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaagcacatcaggtggcCggtaccatagtgtgacaact	11	10	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:96682999C>T	uc001tep.1	-	11	1553	c.1064G>A	c.(1063-1065)CGG>CAG	p.R355Q	CDK17_uc009ztk.2_Missense_Mutation_p.R355Q|CDK17_uc010svb.1_Missense_Mutation_p.R302Q	NM_002595	NP_002586	Q00537	CDK17_HUMAN	PCTAIRE protein kinase 2	355	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			ovary(3)|lung(2)|kidney(1)|central_nervous_system(1)	7						ATCAGGTGGCCGGTACCATAG	0.403													T	96682999	C	T	96682999	3	4	48	1	0	0	0	0	1	0	0	0	3133	652	23	1	573	1	CDK17	12	96682999	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	5132107	96682999	37168896	530	38547											
UTP20	27340	broad.mit.edu	37	chr12	101767445	101767445	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactctgccacgtgcaaaaAgatggcatccatgacaatca	8	11	2	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:101767445A>G	uc001tia.1	+	54	7187	c.7031A>G	c.(7030-7032)AAG>AGG	p.K2344R		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2344					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						ACGTGCAAAAAGATGGCATCC	0.428													G	101767445	A	G	101767445	3	3	48	1	0	0	0	0	1	0	0	0	17096	72	3	3	7245	3	UTP20	12	101767445	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	5084446	101767445	32084450	531	38548											
CHPT1	56994	broad.mit.edu	37	chr12	102091823	102091823	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agtggatcccgctctggatgGcccccaactccatcaccctg	9	17	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:102091823G>C	uc001tin.2	+	1	407	c.184G>C	c.(184-186)GCC>CCC	p.A62P	CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Missense_Mutation_p.A62P	NM_020244	NP_064629	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	62					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding				0						GCTCTGGATGGCCCCCAACTC	0.677													C	102091823	G	C	102091823	3	2	48	1	0	0	0	0	1	0	0	0	3370	1203	42	5	186	5	CHPT1	12	102091823	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	324378	102091823	31760072	532	38549											
TMEM119	338773	broad.mit.edu	37	chr12	108985723	108985723	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctcactgaaggcccgggggCccccggcccggtcactctgg	14	18	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:108985723C>G	uc001tng.2	-	2	600	c.437G>C	c.(436-438)GGC>GCC	p.G146A	TMEM119_uc001tnf.2_RNA	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	transmembrane protein 119 precursor	146	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1						ggcccgggggcccccggcccg	0.567													G	108985723	C	G	108985723	3	3	48	1	0	0	0	0	1	0	0	0	16029	739	26	5	418	5	TMEM119	12	108985723	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	6893900	108985723	24866172	533	38550											
MMAB	326625	broad.mit.edu	37	chr12	109999660	109999660	+	Splice_Site	DEL	G	G	-													ctgcaatgtgcactggatctGgggggcgacagaaagtgaca							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:109999659_109999659TG>T	uc001tou.3	-	5	422	c.349_splice	c.e5-1	p.I117_splice	MMAB_uc001tov.3_Splice_Site|MMAB_uc010sxq.2_Splice_Site_p.I26_splice	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	117					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCACTGGATCTGGGGGGCGAC	0.577													-	109999660	G	-	109999660	8	5	48	1	0	1	0	1	0	0	1	0	9640	1363	47	0		0	MMAB	12	109999660	Splice_Site	DEL	G	TCGA-BR-7703-01A-11D-2053-08	1013937	109999660	23852235	534	38551											
ALDH2	217	broad.mit.edu	37	chr12	112237855	112237855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcccaggccctccaggCgggcactgtgtggtaagagc	14	14	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:112237855C>T	uc001tst.2	+	11	1835	c.1394C>T	c.(1393-1395)GCG>GTG	p.A465V	ALDH2_uc010syi.1_Missense_Mutation_p.A418V|ALDH2_uc009zvy.2_Missense_Mutation_p.A389V	NM_000690	NP_000681	P05091	ALDH2_HUMAN	mitochondrial aldehyde dehydrogenase 2	465					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase|electron carrier activity			skin(2)|ovary(1)|central_nervous_system(1)	4					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	GCCCTCCAGGCGGGCACTGTG	0.572			T	HMGA2	leiomyoma								T	112237855	C	T	112237855	3	4	48	1	0	0	0	0	1	0	0	0	496	768	27	1	1436	1	ALDH2	12	112237855	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2238195	112237855	21614040	535	38552											
OAS3	4940	broad.mit.edu	37	chr12	113382430	113382430	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagttgaagaacctaatcTtgctggtgaagcactggtac	10	9	1	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:113382430T>G	uc001tug.2	+	3	697	c.610T>G	c.(610-612)TTG>GTG	p.L204V	OAS3_uc001tuf.2_Missense_Mutation_p.L204V	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	204	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1						GAACCTAATCTTGCTGGTGAA	0.517													G	113382430	T	G	113382430	3	3	48	1	0	0	0	0	1	0	0	0	10801	1606	56	5	620	5	OAS3	12	113382430	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	1144575	113382430	20469465	536	38553											
LHX5	64211	broad.mit.edu	37	chr12	113907091	113907091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactttgctccgggccttgCgcaccaggtcgctgggcgag	15	13	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:113907091C>T	uc001tvj.1	-	2	807	c.233G>A	c.(232-234)CGC>CAC	p.R78H		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	78	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CCGGGCCTTGCGCACCAGGTC	0.597													T	113907091	C	T	113907091	3	4	48	1	0	0	0	0	1	0	0	0	8774	768	27	1	991	1	LHX5	12	113907091	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	524661	113907091	19944804	537	38554											
TBX3	6926	broad.mit.edu	37	chr12	115120667	115120667	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgcttgtgaaactgatcCcaaagttctttagcctccag	7	14	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:115120667C>T	uc001tvt.1	-	1	1303	c.339G>A	c.(337-339)TGG>TGA	p.W113*	TBX3_uc001tvu.1_Nonsense_Mutation_p.W113*|TBX3_uc010syw.1_Nonsense_Mutation_p.W113*	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	113	T-box; first part.				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			ovary(2)|skin(1)	3	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GAAACTGATCCCAAAGTTCTT	0.582													T	115120667	C	T	115120667	4	4	48	1	0	0	0	0	0	1	0	0	15656	624	22	4	1924	4	TBX3	12	115120667	Nonsense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1213576	115120667	18731228	538	38555											
WSB2	55884	broad.mit.edu	37	chr12	118474278	118474278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgatggccctctagcttcCgaattaacgtgtaggacctc	9	11	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:118474278C>T	uc001twr.2	-	6	796	c.698G>A	c.(697-699)CGG>CAG	p.R233Q	WSB2_uc010sza.1_Missense_Mutation_p.R8Q|WSB2_uc010szb.1_Missense_Mutation_p.R23Q|WSB2_uc009zws.1_Missense_Mutation_p.R233Q	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	233	WD 3.				intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCTAGCTTCCGAATTAACGT	0.498													T	118474278	C	T	118474278	3	4	48	1	0	0	0	0	1	0	0	0	17402	652	23	1	532	1	WSB2	12	118474278	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	3353611	118474278	15377617	539	38556											
TAOK3	51347	broad.mit.edu	37	chr12	118682752	118682752	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttaattgccaccacctcacTggtgtgagcatttgtagcct	8	12	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:118682752T>C	uc001twx.2	-	4	434	c.139A>G	c.(139-141)AGT>GGT	p.S47G	TAOK3_uc001twy.3_Missense_Mutation_p.S47G	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	47	Protein kinase.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCACCTCACTGGTGTGAGCA	0.368													C	118682752	T	C	118682752	3	2	48	1	0	0	0	0	1	0	0	0	15546	1580	55	3	2629	3	TAOK3	12	118682752	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	208474	118682752	15169143	540	38557											
CIT	11113	broad.mit.edu	37	chr12	120148366	120148366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcactgaagggcagcgtGcagttcatgtctagacggtc	14	9	3	2	rs144367821		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:120148366G>A	uc001txi.1	-	37	4841	c.4788C>T	c.(4786-4788)TGC>TGT	p.C1596C	CIT_uc001txh.1_Silent_p.C1115C|CIT_uc001txj.1_Silent_p.C1638C	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1596	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AGGGCAGCGTGCAGTTCATGT	0.502													A	120148366	G	A	120148366	2	1	48	1	0	0	0	0	0	0	0	1	3438	1311	46	2		2	CIT	12	120148366	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1465614	120148366	13703529	541	38558											
GCN1L1	10985	broad.mit.edu	37	chr12	120589077	120589077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccataggcggcccctttgCgctctgcgtacttgtctgac	12	14	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:120589077C>T	uc001txo.2	-	34	4194	c.4181G>A	c.(4180-4182)CGC>CAC	p.R1394H		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1394					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCCCCTTTGCGCTCTGCGTA	0.607													T	120589077	C	T	120589077	3	4	48	1	0	0	0	0	1	0	0	0	6299	768	27	1	3934	1	GCN1L1	12	120589077	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	440711	120589077	13262818	542	38559											
ACADS	35	broad.mit.edu	37	chr12	121176396	121176396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgggcattgcccagaccGccctcgattgtgctgtgaac	11	15	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:121176396G>A	uc001tza.3	+	7	974	c.856G>A	c.(856-858)GCC>ACC	p.A286T	ACADS_uc010szl.1_Missense_Mutation_p.A282T|ACADS_uc001tzb.3_Intron	NM_000017	NP_000008	P16219	ACADS_HUMAN	short-chain acyl-CoA dehydrogenase precursor	286						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(2)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	TGCCCAGACCGCCCTCGATTG	0.662													A	121176396	G	A	121176396	3	1	48	1	0	0	0	0	1	0	0	0	114	1087	38	1	882	1	ACADS	12	121176396	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	587319	121176396	12675499	543	38560											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123705999	123705999	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aattcaccaggagaaatggaTacatcttcctttaaagacac	6	9	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:123705999T>A	uc001uel.2	-	1	443	c.336A>T	c.(334-336)GTA>GTT	p.V112V	MPHOSPH9_uc010tal.1_5'UTR|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_5'UTR	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	112					M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GAGAAATGGATACATCTTCCT	0.363													A	123705999	T	A	123705999	2	1	48	1	0	0	0	0	0	0	0	1	9728	1393	49	5		5	MPHOSPH9	12	123705999	Silent	SNP	T	TCGA-BR-7703-01A-11D-2053-08	2529603	123705999	10145896	544	38561											
GPR133	283383	broad.mit.edu	37	chr12	131476850	131476850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaaaccttccaaagtccCggagtgatactgagttacct	8	10	0	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:131476850C>T	uc001uit.3	+	8	1438	c.879C>T	c.(877-879)CCC>CCT	p.P293P	GPR133_uc010tbm.1_Silent_p.P325P	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	293	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCAAAGTCCCGGAGTGATAC	0.458													T	131476850	C	T	131476850	2	4	48	1	0	0	0	0	0	0	0	1	6643	639	23	1		1	GPR133	12	131476850	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	7770851	131476850	2375045	545	38562											
GPR133	283383	broad.mit.edu	37	chr12	131487801	131487801	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtatcctccaacctgcaCggcagcacgccccaggtcac	8	18	1	0	rs148751019		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:131487801C>T	uc001uit.3	+	10	1657	c.1098C>T	c.(1096-1098)CAC>CAT	p.H366H	GPR133_uc010tbm.1_Silent_p.H398H	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	366	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCAACCTGCACGGCAGCACGC	0.627													T	131487801	C	T	131487801	2	4	48	1	0	0	0	0	0	0	0	1	6643	535	19	1		1	GPR133	12	131487801	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	10951	131487801	2364094	546	38563											
ULK1	8408	broad.mit.edu	37	chr12	132395332	132395332	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcagctccacctcccaccTggcctccccgccggtgagtt	9	20	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:132395332T>C	uc001uje.2	+	12	1203	c.935T>C	c.(934-936)CTG>CCG	p.L312P		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	312	Interaction with GABARAP and GABARAPL2.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		ACCTCCCACCTGGCCTCCCCG	0.692													C	132395332	T	C	132395332	3	2	48	1	0	0	0	0	1	0	0	0	16972	1580	55	3	981	3	ULK1	12	132395332	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	907531	132395332	1456563	547	38564											
ULK1	8408	broad.mit.edu	37	chr12	132401027	132401028	+	Frame_Shift_Ins	INS	-	-	C													gcagggcgtggtgatgacgcINScccctcgaaaccggacgctg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:132401026_132401027G>GC	uc001uje.3	+	19	2230_2231	c.1962_1963G>GC	c.(1960-1965)acgcccfs	p.T654fs		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	654					autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TGGTGATGACGCCCCCTCGAAA	0.688													C	132401028	-	C	132401027	7	5	48	1	0	1	1	0	0	0	0	0	16972	739	26	0	2041	0	ULK1	12	132401027	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	5695	132401027	1450868	548	38565											
ANKLE2	23141	broad.mit.edu	37	chr12	133304695	133304695	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaactgatgggggtcgacGtctgcacattcaagagcggc	16	9	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:133304695G>A	uc001ukx.2	-	12	2605	c.2538C>T	c.(2536-2538)GAC>GAT	p.D846D	ANKLE2_uc009zyw.1_Silent_p.D201D	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	846						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GGGGGTCGACGTCTGCACATT	0.512													A	133304695	G	A	133304695	2	1	48	1	0	0	0	0	0	0	0	1	633	1136	40	1		1	ANKLE2	12	133304695	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	903668	133304695	547200	549	38566											
PSPC1	55269	broad.mit.edu	37	chr13	20277345	20277346	+	Frame_Shift_Del	DEL	AA	AA	-													cgacgcttattagggccttcAaagttgcccccttgacttcc							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:20277344_20277345CAA>C	uc021rgx.1	-	9	1679_1680	c.1542_1543TTG>G	c.(1540-1545)tttgaafs	p.F514fs		NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA.	514	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTAGGGCCTTCAAAGTTGCCCC	0.441													-	20277346	AA	-	20277345	7	5	48	1	0	1	0	1	0	0	0	0	12716	127	5	0	33	0	PSPC1	13	20277345	Frame_Shift_Del	DEL	AA	TCGA-BR-7703-01A-11D-2053-08		20277345	94892533	550	38567											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24465898	24465898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccagcctcttattccccGgactcctggctcaccctggg	8	17	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:24465898G>A	uc010tcw.1	-	3	532	c.532C>T	c.(532-534)CGG>TGG	p.R178W	MIPEP_uc001uox.3_5'Flank|PCOTH_uc001uoy.2_Missense_Mutation_p.R51Q|PCOTH_uc009zzx.2_Missense_Mutation_p.R60Q|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.1_Missense_Mutation_p.R178W	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	178	Collagen-like 3.					collagen					0						CTTATTCCCCGGACTCCTGGC	0.582													A	24465898	G	A	24465898	3	1	48	1	0	0	0	0	1	0	0	0	1971	1116	39	1	472	1	C1QTNF9B	13	24465898	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	4188553	24465898	90703980	551	38568											
FAM123A	219287	broad.mit.edu	37	chr13	25745468	25745468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcctcaccagccccgtcGgacccgagcttttcccgtcc	8	20	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:25745468G>A	uc001uqb.2	-	1	390	c.290C>T	c.(289-291)CCG>CTG	p.P97L	FAM123A_uc001uqa.2_Missense_Mutation_p.P97L|FAM123A_uc001uqc.2_Missense_Mutation_p.P97L	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	97	Gly-rich.									ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CAGCCCCGTCGGACCCGAGCT	0.517													A	25745468	G	A	25745468	3	1	48	1	0	0	0	0	1	0	0	0	5422	1116	39	1	1729	1	FAM123A	13	25745468	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1279570	25745468	89424410	552	38569											
N4BP2L2	10443	broad.mit.edu	37	chr13	33017425	33017425	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagatcatttgaatccattGccccctgctgtcaggaccag	9	12	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:33017425G>A	uc010abe.1	-	7	1271	c.1249C>T	c.(1249-1251)CAA>TAA	p.Q417*	N4BP2L2_uc001uug.2_Nonsense_Mutation_p.Q300*|N4BP2L2_uc010abd.1_Nonsense_Mutation_p.Q330*|N4BP2L2_uc001uuh.2_Nonsense_Mutation_p.Q248*|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Nonsense_Mutation_p.Q402*	NM_033111	NP_149102	Q92802	N42L2_HUMAN	phosphonoformate immuno-associated protein 5	Error:Variant_position_missing_in_Q92802_after_alignment											0		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TGAATCCATTGCCCCCTGCTG	0.423													A	33017425	G	A	33017425	4	1	48	1	0	0	0	0	0	1	0	0	10112	1328	46	2	1021	2	N4BP2L2	13	33017425	Nonsense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	7271957	33017425	82152453	553	38570											
KIAA0564	23078	broad.mit.edu	37	chr13	42189137	42189137	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccagcccaagtgttgccGcccacgtgaggcatgttgtc	12	15	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:42189137G>A	uc001uyj.2	-	38	4765	c.4695C>T	c.(4693-4695)GGC>GGT	p.G1565G		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1565						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		AAGTGTTGCCGCCCACGTGAG	0.537													A	42189137	G	A	42189137	2	1	48	1	0	0	0	0	0	0	0	1	8185	1074	38	1		1	KIAA0564	13	42189137	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	9171712	42189137	72980741	554	38571											
LCP1	3936	broad.mit.edu	37	chr13	46705004	46705004	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtcttcagaaggtcatAgttaatggaacctggttgga	11	6	4	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:46705004A>G	uc001vaz.3	-	15	1822	c.1696T>C	c.(1696-1698)TAT>CAT	p.Y566H	LCP1_uc010ack.2_Missense_Mutation_p.Y135H|LCP1_uc001vay.3_Missense_Mutation_p.Y163H|LCP1_uc001vba.3_Missense_Mutation_p.Y566H	NM_002298	NP_002289	P13796	PLSL_HUMAN	L-plastin	566	Actin-binding 2.|CH 4.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			lung(4)|ovary(3)	7		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		AGAAGGTCATAGTTAATGGAA	0.428			T	BCL6	NHL 								G	46705004	A	G	46705004	3	3	48	1	0	0	0	0	1	0	0	0	8691	420	15	3	195	3	LCP1	13	46705004	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	4515867	46705004	68464874	555	38572											
LRCH1	23143	broad.mit.edu	37	chr13	47315868	47315868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcactcggggagaaagCcccaccaccaacttctgccc	10	17	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:47315868C>T	uc001vbj.2	+	19	2308	c.2072C>T	c.(2071-2073)GCC>GTC	p.A691V	LRCH1_uc001vbk.2_Missense_Mutation_p.A726V|LRCH1_uc001vbl.3_Intron	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH)	691										ovary(1)|central_nervous_system(1)	2		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GGGGAGAAAGCCCCACCACCA	0.502													T	47315868	C	T	47315868	3	4	48	1	0	0	0	0	1	0	0	0	8932	739	26	2	2255	2	LRCH1	13	47315868	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	610864	47315868	67854010	556	38573											
PCDH8	5100	broad.mit.edu	37	chr13	53421242	53421242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaccaggtagctgcccgCgtaggccggctgcagccgga	14	16	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:53421242C>T	uc001vhi.2	-	1	1533	c.1330G>A	c.(1330-1332)GCG>ACG	p.A444T	PCDH8_uc001vhj.2_Missense_Mutation_p.A444T	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	444	Extracellular (Potential).|Cadherin 4.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TAGCTGCCCGCGTAGGCCGGC	0.716													T	53421242	C	T	53421242	3	4	48	1	0	0	0	0	1	0	0	0	11517	768	27	1	1894	1	PCDH8	13	53421242	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	6105374	53421242	61748636	557	38574											
PCDH9	5101	broad.mit.edu	37	chr13	67801679	67801679	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaaagagtcttttggtTgcaggggcgacctgggcacc	14	9	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:67801679T>C	uc001vik.2	-	2	1586	c.894A>G	c.(892-894)GCA>GCG	p.A298A	PCDH9_uc001vil.2_Silent_p.A298A|PCDH9_uc010thl.1_Silent_p.A298A|PCDH9_uc001vin.3_Silent_p.A298A	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	298	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTCTTTTGGTTGCAGGGGCGA	0.468													C	67801679	T	C	67801679	2	2	48	1	0	0	0	0	0	0	0	1	11518	1799	63	3		3	PCDH9	13	67801679	Silent	SNP	T	TCGA-BR-7703-01A-11D-2053-08	14380437	67801679	47368199	558	38575											
KLF5	688	broad.mit.edu	37	chr13	73636730	73636730	+	Frame_Shift_Del	DEL	A	A	-													cctccatcctatgctgctacAattgcttctaaactggcaat							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:73636730delA	uc001vje.2	+	2	1317	c.993delA	c.(991-993)ACAfs	p.T331fs	KLF5_uc001vjd.2_Frame_Shift_Del_p.T240fs	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	331					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		ATGCTGCTACAATTGCTTCTA	0.463													-	73636730	A	-	73636730	7	5	48	1	0	1	0	1	0	0	0	0	8349	117	5	0	999	0	KLF5	13	73636730	Frame_Shift_Del	DEL	A	TCGA-BR-7703-01A-11D-2053-08	5835051	73636730	41533148	559	38576											
MYCBP2	23077	broad.mit.edu	37	chr13	77754337	77754337	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggtgttagagacgaggtgGgaggagaagagttcattttc	16	4	1	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:77754337G>T	uc001vkf.2	-	35	5035	c.4944C>A	c.(4942-4944)TCC>TCA	p.S1648S	MYCBP2_uc010aev.2_Silent_p.S1052S	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGACGAGGTGGGAGGAGAAGA	0.483													T	77754337	G	T	77754337	2	4	48	1	0	0	0	0	0	0	0	1	10018	1219	43	5		5	MYCBP2	13	77754337	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	4117607	77754337	37415541	560	38577											
CLYBL	171425	broad.mit.edu	37	chr13	100543659	100543660	+	Frame_Shift_Ins	INS	-	-	A													gcttgccacctccatcaaggINSaaaaatgatctgttaaatga							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:100543659_100543660insA	uc001vok.2	+	8	1029_1030	c.1015_1016insA	c.(1015-1017)GAAfs	p.E339fs		NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like precursor	339					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTCCATCAAGGAAAAATGATCT	0.45													A	100543660	-	A	100543659	7	5	48	1	0	1	1	0	0	0	0	0	3573	1175	41	0	1045	0	CLYBL	13	100543659	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	22789322	100543659	14626219	561	38578	124	2									
CLYBL	171425	broad.mit.edu	37	chr13	100543660	100543661	+	Frame_Shift_Ins	INS	-	-	A													cttgccacctccatcaaggaINSaaaatgatctgttaaatgaa							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:100543659_100543660G>GA	uc001vok.3	+	7	1046_1047	c.1015_1016G>GA	c.(1015-1017)gaafs	p.E339fs		NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	Homo sapiens citrate lyase beta like (CLYBL), mRNA.	339					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTCCATCAAGGAAAAATGATCT	0.45													A	100543661	-	A	100543660	7	5	48	1	0	1	1	0	0	0	0	0	3573	246	9	0	1046	0	CLYBL	13	100543660	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	1	100543660	14626218	562	38579	124	2									
C13orf39	196541	broad.mit.edu	37	chr13	103339401	103339401	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccaagtattgacacaaagCcatagcctaaaaaataatta	4	9	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:103339401C>A	uc001vpj.2	-	3	295	c.289G>T	c.(289-291)GCT>TCT	p.A97S	C13orf39_uc001vpk.2_Missense_Mutation_p.A97S	NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN	hypothetical protein LOC196541	97							methyltransferase activity				0						TGACACAAAGCCATAGCCTAA	0.393													A	103339401	C	A	103339401	3	1	48	1	0	0	0	0	1	0	0	0	1732	739	26	5	513	5	C13orf39	13	103339401	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2795741	103339401	11830477	563	38580											
SLC10A2	6555	broad.mit.edu	37	chr13	103703660	103703660	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaccccagggagtaaccCgccacaggaaatattgttcc	9	12	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:103703660C>T	uc001vpy.3	-	4	1305	c.708G>A	c.(706-708)GCG>GCA	p.A236A		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid	236	Helical; (Potential).				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(3)|skin(1)	4	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGGAGTAACCCGCCACAGGAA	0.433													T	103703660	C	T	103703660	2	4	48	1	0	0	0	0	0	0	0	1	14374	639	23	1		1	SLC10A2	13	103703660	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	364259	103703660	11466218	564	38581											
FAM155A	728215	broad.mit.edu	37	chr13	107822911	107822911	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagctcagtccggctgtgttCtgtgctgccgaggctgtgag	15	10	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:107822911C>A	uc001vql.2	-	3	1827	c.1311G>T	c.(1309-1311)CAG>CAT	p.Q437H		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	437	Helical; (Potential).					integral to membrane	binding			skin(1)	1						CGGCTGTGTTCTGTGCTGCCG	0.517													A	107822911	C	A	107822911	3	1	48	1	0	0	0	0	1	0	0	0	5465	912	32	5	69	5	FAM155A	13	107822911	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	4119251	107822911	7346967	565	38582											
MYO16	23026	broad.mit.edu	37	chr13	109661297	109661297	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactatatcaatgaagtgcTttttctccacgagcaagtgg	8	10	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:109661297T>C	uc001vqt.1	+	22	2555	c.2429T>C	c.(2428-2430)CTT>CCT	p.L810P	MYO16_uc010agk.1_Missense_Mutation_p.L832P|MYO16_uc001vqu.1_Missense_Mutation_p.L610P|MYO16_uc010tjh.1_Missense_Mutation_p.L322P	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	810	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AATGAAGTGCTTTTTCTCCAC	0.378													C	109661297	T	C	109661297	3	2	48	1	0	0	0	0	1	0	0	0	10064	1609	56	3	2511	3	MYO16	13	109661297	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	1838386	109661297	5508581	566	38583											
SLC39A2	29986	broad.mit.edu	37	chr14	21469346	21469346	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctttcactcagtgtttgaaGggctagctgtggggctgcag	14	9	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:21469346G>T	uc001vyr.2	+	4	725	c.538G>T	c.(538-540)GGG>TGG	p.G180W	SLC39A2_uc001vys.2_Missense_Mutation_p.G81W	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter),	180	Helical; (Potential).					cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			ovary(2)|central_nervous_system(1)	3	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		AGTGTTTGAAGGGCTAGCTGT	0.567													T	21469346	G	T	21469346	3	4	48	1	0	0	0	0	1	0	0	0	14618	1000	35	5	552	5	SLC39A2	14	21469346	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08		21469346	85880194	567	38584											
HNRNPC	3183	broad.mit.edu	37	chr14	21681143	21681143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagacttggaagatccccGctgtccactcttagaattga	8	12	1	4			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:21681143G>A	uc001vzy.2	-	6	782	c.538C>T	c.(538-540)CGG>TGG	p.R180W	HNRNPC_uc001vzw.2_Missense_Mutation_p.R167W|HNRNPC_uc001wad.2_Missense_Mutation_p.R100W|HNRNPC_uc001vzx.2_Intron|HNRNPC_uc001vzz.2_Missense_Mutation_p.R167W|HNRNPC_uc001waa.2_Missense_Mutation_p.R180W|HNRNPC_uc010ail.2_Missense_Mutation_p.R180W|HNRNPC_uc010tlq.1_RNA|HNRNPC_uc001wab.2_Missense_Mutation_p.R167W|HNRNPC_uc001wac.2_Intron|HNRNPC_uc010tlr.1_Missense_Mutation_p.R45W|HNRNPC_uc001waf.2_Missense_Mutation_p.R167W|HNRNPC_uc001wae.2_Missense_Mutation_p.R167W	NM_031314	NP_112604	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C	180						catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding				0	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		GAAGATCCCCGCTGTCCACTC	0.428													A	21681143	G	A	21681143	3	1	48	1	0	0	0	0	1	0	0	0	7262	1086	38	1	398	1	HNRNPC	14	21681143	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	211797	21681143	85668397	568	38585											
MYH6	4624	broad.mit.edu	37	chr14	23853917	23853917	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcagctcctctgccaTcatggcggcctgtgtgcagg	11	14	4	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:23853917T>C	uc001wjv.2	-	36	5366	c.5299A>G	c.(5299-5301)ATG>GTG	p.M1767V		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1767	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCTCTGCCATCATGGCGGCC	0.612													C	23853917	T	C	23853917	3	2	48	1	0	0	0	0	1	0	0	0	10038	1435	50	3	536	3	MYH6	14	23853917	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	2172774	23853917	83495623	569	38586											
MYH6	4624	broad.mit.edu	37	chr14	23858161	23858161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttggccttggacaggacgCgctgcagctcggccttggcc	15	13	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:23858161C>T	uc001wjv.2	-	29	4149	c.4082G>A	c.(4081-4083)CGC>CAC	p.R1361H	uc010tnn.1_5'Flank|MIR208A_hsa-mir-208a|MI0000251_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1361	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGACAGGACGCGCTGCAGCTC	0.642													T	23858161	C	T	23858161	3	4	48	1	0	0	0	0	1	0	0	0	10038	768	27	1	1781	1	MYH6	14	23858161	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	4244	23858161	83491379	570	38587											
PCK2	5106	broad.mit.edu	37	chr14	24567477	24567479	+	In_Frame_Del	DEL	CTT	CTT	-													caagacggtgattgtaactcCttctcagcgggacacggtac							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:24567477_24567479delCTT	uc001wlt.2	+	3	473_475	c.341_343delCTT	c.(340-345)CCTTCT>CCT	p.S115del	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_In_Frame_Del_p.S127del|PCK2_uc001wls.2_In_Frame_Del_p.S115del|PCK2_uc010tnw.1_5'UTR|PCK2_uc010ald.2_5'UTR|PCK2_uc010ale.2_5'UTR|PCK2_uc010tnx.1_5'UTR|PCK2_uc001wlu.3_5'UTR	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	115					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)		ATTGTAACTCCTTCTCAGCGGGA	0.616													-	24567479	CTT	-	24567477	7	5	48	1	0	1	0	1	0	0	0	0	11582	681	24	0	351	0	PCK2	14	24567477	In_Frame_Del	DEL	CTT	TCGA-BR-7703-01A-11D-2053-08	709316	24567477	82782063	571	38588											
PSME1	5720	broad.mit.edu	37	chr14	24606965	24606965	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggtccttctgcagcgcTtgaagcctgagatcaaggat	12	10	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:24606965T>G	uc001wmg.2	+	6	443	c.349T>G	c.(349-351)TTG>GTG	p.L117V	PSME1_uc001wmh.2_Missense_Mutation_p.L117V	NM_006263	NP_006254	Q06323	PSME1_HUMAN	proteasome activator subunit 1 isoform 1	117					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00831)		TCTGCAGCGCTTGAAGCCTGA	0.517													G	24606965	T	G	24606965	3	3	48	1	0	0	0	0	1	0	0	0	12706	1606	56	5	371	5	PSME1	14	24606965	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	39488	24606965	82742575	572	38589											
FOXG1	2290	broad.mit.edu	37	chr14	29237784	29237784	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttcgcagagcagcacgtcCatgagcgccagggccgcgtc	13	15	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:29237784C>A	uc001wqe.2	+	1	1498	c.1299C>A	c.(1297-1299)TCC>TCA	p.S433S		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	433					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GCAGCACGTCCATGAGCGCCA	0.632													A	29237784	C	A	29237784	2	1	48	1	0	0	0	0	0	0	0	1	6007	581	21	5		5	FOXG1	14	29237784	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	4630819	29237784	78111756	573	38590											
FAM179B	23116	broad.mit.edu	37	chr14	45432820	45432820	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttggcttcattagtttgcTatataatttgttagacgatt	8	4	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:45432820T>C	uc001wvv.2	+	1	1405	c.1196T>C	c.(1195-1197)CTA>CCA	p.L399P	FAM179B_uc001wvw.2_Missense_Mutation_p.L399P|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.L399P|FAM179B_uc001wvu.2_Missense_Mutation_p.L399P	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	399	HEAT 2.						binding			skin(2)|upper_aerodigestive_tract(1)	3						ATTAGTTTGCTATATAATTTG	0.438													C	45432820	T	C	45432820	3	2	48	1	0	0	0	0	1	0	0	0	5506	1522	53	3	1198	3	FAM179B	14	45432820	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	16195036	45432820	61916720	574	38591											
DACT1	51339	broad.mit.edu	37	chr14	59112499	59112499	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccccgggcggtgtctcacaGggcaacagtgtgaaccttaa	13	12	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:59112499G>T	uc001xdw.2	+	4	1322	c.1158G>T	c.(1156-1158)CAG>CAT	p.Q386H	DACT1_uc010trv.1_Missense_Mutation_p.Q105H|DACT1_uc001xdx.2_Missense_Mutation_p.Q349H|DACT1_uc010trw.1_Missense_Mutation_p.Q105H	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	386					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						GTGTCTCACAGGGCAACAGTG	0.557													T	59112499	G	T	59112499	3	4	48	1	0	0	0	0	1	0	0	0	4222	991	35	5	1172	5	DACT1	14	59112499	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	13679679	59112499	48237041	575	38592											
SIX1	6495	broad.mit.edu	37	chr14	61115476	61115476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgatgggtagggattgtgCgcgtaccactcccgcaggac	16	11	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:61115476C>T	uc001xfb.3	-	1	680	c.432G>A	c.(430-432)GCG>GCA	p.A144A		NM_005982	NP_005973	Q15475	SIX1_HUMAN	SIX homeobox 1	144	Homeobox.				branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		AGGGATTGTGCGCGTACCACT	0.627													T	61115476	C	T	61115476	2	4	48	1	0	0	0	0	0	0	0	1	14346	755	27	1		1	SIX1	14	61115476	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2002977	61115476	46234064	576	38593											
SYNE2	23224	broad.mit.edu	37	chr14	64465745	64465745	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgtctgcaggctaaacTgacagatctacaggtaatta	8	8	3	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:64465745T>C	uc001xgm.2	+	27	3697	c.3467T>C	c.(3466-3468)CTG>CCG	p.L1156P	SYNE2_uc001xgl.2_Missense_Mutation_p.L1156P	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1156	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGGCTAAACTGACAGATCTA	0.363													C	64465745	T	C	64465745	3	2	48	1	0	0	0	0	1	0	0	0	15443	1580	55	3	3569	3	SYNE2	14	64465745	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	3350269	64465745	42883795	577	38594											
SYNE2	23224	broad.mit.edu	37	chr14	64644169	64644169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcctcttccagagcttcacGaggacctccataacgaaaaa	6	13	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:64644169G>A	uc001xgm.2	+	96	17754	c.17524G>A	c.(17524-17526)GAG>AAG	p.E5842K	SYNE2_uc001xgl.2_Missense_Mutation_p.E5842K|SYNE2_uc010apy.2_Missense_Mutation_p.E2227K|SYNE2_uc001xgn.2_Missense_Mutation_p.E804K|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR|SYNE2_uc001xgq.2_Missense_Mutation_p.E207K	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5842	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGAGCTTCACGAGGACCTCCA	0.408													A	64644169	G	A	64644169	3	1	48	1	0	0	0	0	1	0	0	0	15443	1059	37	1	17902	1	SYNE2	14	64644169	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	178424	64644169	42705371	578	38595											
SYNE2	23224	broad.mit.edu	37	chr14	64692078	64692078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcgctccttcctctcaaGggtggtccgggcagccctac	11	16	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:64692078G>A	uc001xgm.2	+	115	20722	c.20492G>A	c.(20491-20493)AGG>AAG	p.R6831K	SYNE2_uc001xgl.2_Missense_Mutation_p.R6853K|SYNE2_uc010apy.2_Missense_Mutation_p.R3216K|SYNE2_uc001xgn.2_Missense_Mutation_p.R1792K|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.R801K|SYNE2_uc001xgq.2_Missense_Mutation_p.R1210K|SYNE2_uc001xgr.2_Missense_Mutation_p.R614K|SYNE2_uc010tsi.1_Missense_Mutation_p.R488K|SYNE2_uc001xgs.2_Missense_Mutation_p.R502K|SYNE2_uc001xgt.2_Missense_Mutation_p.R375K	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6831	Cytoplasmic (Potential).|KASH.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTCCTCTCAAGGGTGGTCCGG	0.483													A	64692078	G	A	64692078	3	1	48	1	0	0	0	0	1	0	0	0	15443	1000	35	4	21061	4	SYNE2	14	64692078	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	47909	64692078	42657462	579	38596											
SPTB	6710	broad.mit.edu	37	chr14	65252572	65252572	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactcaagaccttatcccggTtgttctccatagaccccaag	7	14	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:65252572T>C	uc001xht.2	-	16	3713	c.3659A>G	c.(3658-3660)AAC>AGC	p.N1220S	SPTB_uc001xhr.2_Missense_Mutation_p.N1220S|SPTB_uc001xhs.2_Missense_Mutation_p.N1220S|SPTB_uc001xhu.2_Missense_Mutation_p.N1220S	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	1220	Spectrin 9.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTTATCCCGGTTGTTCTCCAT	0.522													C	65252572	T	C	65252572	3	2	48	1	0	0	0	0	1	0	0	0	15117	1725	60	3	3476	3	SPTB	14	65252572	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	560494	65252572	42096968	580	38597											
FUT8	2530	broad.mit.edu	37	chr14	66136109	66136109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggaatctcagaattggcGctatgctactggtggatggg	14	7	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:66136109G>A	uc001xin.2	+	7	1943	c.746G>A	c.(745-747)CGC>CAC	p.R249H	FUT8_uc001xio.2_Missense_Mutation_p.R249H|FUT8_uc010tsp.1_Missense_Mutation_p.R86H|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.R249H|FUT8_uc001xiq.2_Missense_Mutation_p.R120H|FUT8_uc001xis.2_5'Flank	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 isoform a	249	Lumenal (Potential).				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CAGAATTGGCGCTATGCTACT	0.498													A	66136109	G	A	66136109	3	1	48	1	0	0	0	0	1	0	0	0	6110	1087	38	1	863	1	FUT8	14	66136109	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	883537	66136109	41213431	581	38598											
GPHN	10243	broad.mit.edu	37	chr14	67576930	67576930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataccctgcggtgctgatgCagtagtacaagtggaagata	12	7	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:67576930C>T	uc001xiy.2	+	13	2389	c.1268C>T	c.(1267-1269)GCA>GTA	p.A423V	GPHN_uc001xix.2_Missense_Mutation_p.A456V|GPHN_uc010tss.1_Missense_Mutation_p.A469V|GPHN_uc010tst.1_Missense_Mutation_p.A392V|GPHN_uc010tsu.1_Missense_Mutation_p.A346V	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	423	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GGTGCTGATGCAGTAGTACAA	0.443			T	MLL	AL								T	67576930	C	T	67576930	3	4	48	1	0	0	0	0	1	0	0	0	6610	710	25	2	1421	2	GPHN	14	67576930	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1440821	67576930	39772610	582	38599											
RGS6	9628	broad.mit.edu	37	chr14	72976872	72976872	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccccaaagcaaagagcccAgccaacagcgagtaaaaaga	8	13	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:72976872A>G	uc001xna.3	+	14	1499	c.976A>G	c.(976-978)AGC>GGC	p.S326G	RGS6_uc010ttn.1_Missense_Mutation_p.S326G|RGS6_uc001xmx.3_Missense_Mutation_p.S326G|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.S326G|RGS6_uc010ttp.1_Missense_Mutation_p.S257G|RGS6_uc001xmz.1_Missense_Mutation_p.S187G	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	326	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAAAGAGCCCAGCCAACAGCG	0.463													G	72976872	A	G	72976872	3	3	48	1	0	0	0	0	1	0	0	0	13309	188	7	3	1026	3	RGS6	14	72976872	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	5399942	72976872	34372668	583	38600											
LTBP2	4053	broad.mit.edu	37	chr14	75016599	75016599	+	Frame_Shift_Del	DEL	C	C	-													gcatggggcacacaaagtcaCcccccagaaggctcccacac							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:75016598_75016598AC>A	uc001xqa.3	-	7	2144	c.1757_1757GT>T	c.(1756-1758)gtgfs	p.V586fs		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	586	TB 1.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		ACACAAAGTCACCCCCCAGAA	0.627													-	75016599	C	-	75016599	7	5	48	1	0	1	0	1	0	0	0	0	9074	507	18	0	3825	0	LTBP2	14	75016599	Frame_Shift_Del	DEL	C	TCGA-BR-7703-01A-11D-2053-08	2039727	75016599	32332941	584	38601											
FLRT2	23768	broad.mit.edu	37	chr14	86089465	86089465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcagacgacgtcccacaGcatgggctccccctttctgc	10	16	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:86089465G>A	uc001xvr.2	+	2	2374	c.1607G>A	c.(1606-1608)AGC>AAC	p.S536N	FLRT2_uc010atd.2_Missense_Mutation_p.S536N	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	536	Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ACGTCCCACAGCATGGGCTCC	0.572													A	86089465	G	A	86089465	3	1	48	1	0	0	0	0	1	0	0	0	5939	971	34	2	1609	2	FLRT2	14	86089465	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	11072866	86089465	21260075	585	38602											
KCNK13	56659	broad.mit.edu	37	chr14	90651177	90651177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatctccatgaaggacttgCtggcagccaacaaggcctcg	11	12	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:90651177C>T	uc001xye.1	+	2	1499	c.1057C>T	c.(1057-1059)CTG>TTG	p.L353L		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	353	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				GAAGGACTTGCTGGCAGCCAA	0.617													T	90651177	C	T	90651177	2	4	48	1	0	0	0	0	0	0	0	1	8061	796	28	2		2	KCNK13	14	90651177	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	4561712	90651177	16698363	586	38603											
CCDC88C	440193	broad.mit.edu	37	chr14	91770229	91770229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctgcctctgcaggctttCgttctccgtctccttggccg	10	16	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:91770229C>T	uc010aty.2	-	20	3550	c.3451G>A	c.(3451-3453)GAA>AAA	p.E1151K		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	1151	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				TGCAGGCTTTCGTTCTCCGTC	0.652													T	91770229	C	T	91770229	3	4	48	1	0	0	0	0	1	0	0	0	2865	893	31	1	2679	1	CCDC88C	14	91770229	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1119052	91770229	15579311	587	38604											
CCDC88C	440193	broad.mit.edu	37	chr14	91779971	91779971	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcacgctccagctgctggTtctccctctccatctgtgcc	7	18	4	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:91779971T>C	uc010aty.2	-	15	2288	c.2189A>G	c.(2188-2190)AAC>AGC	p.N730S		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	730	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				CAGCTGCTGGTTCTCCCTCTC	0.607													C	91779971	T	C	91779971	3	2	48	1	0	0	0	0	1	0	0	0	2865	1725	60	3	3961	3	CCDC88C	14	91779971	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	9742	91779971	15569569	588	38605											
TRIP11	9321	broad.mit.edu	37	chr14	92472038	92472038	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagtttaattaaatgctcaTgttccagctgtaaggcagag	10	6	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:92472038T>C	uc001xzy.2	-	11	3070	c.2282A>G	c.(2281-2283)CAT>CGT	p.H761R	TRIP11_uc010auf.1_Missense_Mutation_p.H497R	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	761	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		TAAATGCTCATGTTCCAGCTG	0.348			T	PDGFRB	AML								C	92472038	T	C	92472038	3	2	48	1	0	0	0	0	1	0	0	0	16552	1464	51	3	3701	3	TRIP11	14	92472038	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	692067	92472038	14877502	589	38606											
ITPK1	3705	broad.mit.edu	37	chr14	93424683	93424683	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agggtggctggatggcgttcAggccctcctggttgaacacg	16	10	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:93424683A>C	uc001ybg.2	-	8	822	c.533T>G	c.(532-534)CTG>CGG	p.L178R	ITPK1_uc001ybe.2_Missense_Mutation_p.L178R|ITPK1_uc001ybf.2_Missense_Mutation_p.L59R|ITPK1_uc001ybh.2_Missense_Mutation_p.L178R	NM_014216	NP_055031	Q13572	ITPK1_HUMAN	inositol 1,3,4-triphosphate 5/6 kinase isoform	178	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding				0		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		GATGGCGTTCAGGCCCTCCTG	0.557													C	93424683	A	C	93424683	3	2	48	1	0	0	0	0	1	0	0	0	7916	188	7	5	775	5	ITPK1	14	93424683	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	952645	93424683	13924857	590	38607											
FAM181A	90050	broad.mit.edu	37	chr14	94395175	94395175	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcccctgggacctgagactAccctggtgtccatgtctcca	10	15	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:94395175A>G	uc001ybz.1	+	3	1037	c.730A>G	c.(730-732)ACC>GCC	p.T244A	C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Missense_Mutation_p.T182A|FAM181A_uc001yca.1_Missense_Mutation_p.T182A	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN	hypothetical protein LOC90050	244											0						ACCTGAGACTACCCTGGTGTC	0.627													G	94395175	A	G	94395175	3	3	48	1	0	0	0	0	1	0	0	0	5508	391	14	3	736	3	FAM181A	14	94395175	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	970492	94395175	12954365	591	38608											
C14orf49	161176	broad.mit.edu	37	chr14	95922000	95922000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgttccgaatgacacccGcagactgctcctccagcgtc	10	15	0	2	rs143391386		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:95922000G>A	uc001yei.3	-	5	866	c.851C>T	c.(850-852)GCG>GTG	p.A284V	C14orf49_uc010avi.2_Missense_Mutation_p.A284V|C14orf49_uc001yej.1_Missense_Mutation_p.A284V	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	284	Spectrin 1.|Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		AATGACACCCGCAGACTGCTC	0.567													A	95922000	G	A	95922000	3	1	48	1	0	0	0	0	1	0	0	0	1776	1087	38	1	2128	1	C14orf49	14	95922000	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1526825	95922000	11427540	592	38609											
EML1	2009	broad.mit.edu	37	chr14	100363543	100363543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttccgacgggagagaccGtctacttcatcgcatccgtg	11	13	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:100363543G>A	uc001ygs.2	+	7	808	c.739G>A	c.(739-741)GTC>ATC	p.V247I	EML1_uc010avt.1_Missense_Mutation_p.V234I|EML1_uc010tww.1_Missense_Mutation_p.V235I|EML1_uc001ygq.2_Missense_Mutation_p.V266I|EML1_uc001ygr.2_Missense_Mutation_p.V266I	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	247						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GGGAGAGACCGTCTACTTCAT	0.488													A	100363543	G	A	100363543	3	1	48	1	0	0	0	0	1	0	0	0	5096	1145	40	1	826	1	EML1	14	100363543	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	4441543	100363543	6985997	593	38610											
CDC42BPB	9578	broad.mit.edu	37	chr14	103430922	103430922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggatctccgcctccagggcCgactgcagctccagccgcgc	12	19	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:103430922C>T	uc001ymi.1	-	19	2875	c.2643G>A	c.(2641-2643)TCG>TCA	p.S881S	CDC42BPB_uc001ymj.1_Silent_p.S9S	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	881	Potential.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CCTCCAGGGCCGACTGCAGCT	0.607													T	103430922	C	T	103430922	2	4	48	1	0	0	0	0	0	0	0	1	3073	639	23	1		1	CDC42BPB	14	103430922	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	3067379	103430922	3918618	594	38611											
HERC2	8924	broad.mit.edu	37	chr15	28408263	28408263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtaggcggtccccatgcCggaaagcaccgcggagagca	16	12	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:28408263C>T	uc001zbj.2	-	69	10829	c.10723G>A	c.(10723-10725)GGC>AGC	p.G3575S		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3575					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTCCCCATGCCGGAAAGCACC	0.647													T	28408263	C	T	28408263	3	4	48	1	0	0	0	0	1	0	0	0	7058	652	23	1	3881	1	HERC2	15	28408263	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08		28408263	74123129	595	38612											
HERC2	8924	broad.mit.edu	37	chr15	28437159	28437159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcgctgccgtcaatgagaCgggatgcctggttcacggag	15	11	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:28437159C>T	uc001zbj.2	-	53	8505	c.8399G>A	c.(8398-8400)CGT>CAT	p.R2800H	HERC2_uc001zbk.1_Missense_Mutation_p.R335H	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2800	DOC.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTCAATGAGACGGGATGCCTG	0.597											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	28437159	C	T	28437159	3	4	48	1	0	0	0	0	1	0	0	0	7058	536	19	1	6269	1	HERC2	15	28437159	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	28896	28437159	74094233	596	38613											
TJP1	7082	broad.mit.edu	37	chr15	30065504	30065505	+	Frame_Shift_Ins	INS	-	-	A													ttgacgtttccccactctgaINSaaatgaggattatctcgtcc							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:30065503_30065504G>GA	uc001zcr.3	-	2	616_617	c.141_142C>TC	c.(139-144)tttcagfs	p.F47fs	TJP1_uc010azl.3_Frame_Shift_Ins_p.F35fs|TJP1_uc001zcq.3_Frame_Shift_Ins_p.F51fs|TJP1_uc001zcs.3_Frame_Shift_Ins_p.F47fs	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	47	PDZ 1.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCCCCACTCTGAAAATGAGGAT	0.406													A	30065505	-	A	30065504	7	5	48	1	0	1	1	0	0	0	0	0	15926	243	9	0	5209	0	TJP1	15	30065504	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	1628345	30065504	72465888	597	38614											
CHRNA7	1139	broad.mit.edu	37	chr15	32460269	32460269	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagtgtggagatgagcgcCgtggcgccgccgcccgccag	17	15	0	2	rs150888391		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:32460269C>T	uc001zft.2	+	10	1191	c.1119C>T	c.(1117-1119)GCC>GCT	p.A373A	uc001zfv.1_Intron|CHRNA7_uc010baf.2_Silent_p.A192A|CHRNA7_uc010bak.2_Silent_p.A288A	NM_000746	NP_000737	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7	373	Cytoplasmic (Potential).				activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			ovary(1)	1		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	AGATGAGCGCCGTGGCGCCGC	0.701													T	32460269	C	T	32460269	2	4	48	1	0	0	0	0	0	0	0	1	3388	639	23	1		1	CHRNA7	15	32460269	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2394765	32460269	70071123	598	38615											
MEIS2	4212	broad.mit.edu	37	chr15	37184485	37184485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgggtagggggtcctccGtgcatcatcatggctgggtg	19	8	2	0	rs139991974		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:37184485G>A	uc001zjr.2	-	12	2360	c.1323C>T	c.(1321-1323)CAC>CAT	p.H441H	MEIS2_uc001zjl.2_3'UTR|MEIS2_uc010ucj.1_Silent_p.H421H|MEIS2_uc001zjm.2_3'UTR|MEIS2_uc001zjn.2_3'UTR|MEIS2_uc001zjo.2_3'UTR|MEIS2_uc001zjp.2_3'UTR|MEIS2_uc001zjs.2_Silent_p.H434H|MEIS2_uc001zju.2_3'UTR|MEIS2_uc001zjt.2_Silent_p.H434H|MEIS2_uc001zjj.2_Silent_p.H137H|MEIS2_uc001zjk.2_Silent_p.H130H	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	441					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)	2		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GGGGTCCTCCGTGCATCATCA	0.522													A	37184485	G	A	37184485	2	1	48	1	0	0	0	0	0	0	0	1	9468	1136	40	1		1	MEIS2	15	37184485	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	4724216	37184485	65346907	599	38616											
SPRED1	161742	broad.mit.edu	37	chr15	38614539	38614539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaagaagtttggtcttaCgtttcaaagtcctgctgatg	10	7	2	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:38614539C>T	uc001zka.3	+	3	640	c.305C>T	c.(304-306)ACG>ATG	p.T102M		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	102	WH1.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TTTGGTCTTACGTTTCAAAGT	0.368									Legius_syndrome				T	38614539	C	T	38614539	3	4	48	1	0	0	0	0	1	0	0	0	15091	536	19	1	315	1	SPRED1	15	38614539	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1430054	38614539	63916853	600	38617											
EIF2AK4	440275	broad.mit.edu	37	chr15	40322596	40322596	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagcaacagtggttcccaTtgtgagtgtgctagccccgg	14	10	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:40322596T>C	uc001zkm.1	+	35	4648	c.4598T>C	c.(4597-4599)ATT>ACT	p.I1533T	EIF2AK4_uc010bbj.1_Missense_Mutation_p.I1234T|EIF2AK4_uc001zkn.1_Missense_Mutation_p.I633T|EIF2AK4_uc001zko.1_Missense_Mutation_p.I414T|EIF2AK4_uc010bbk.1_RNA	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	1533					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GTGGTTCCCATTGTGAGTGTG	0.468											OREG0023054	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	40322596	T	C	40322596	3	2	48	1	0	0	0	0	1	0	0	0	4999	1493	52	3	4736	3	EIF2AK4	15	40322596	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	1708057	40322596	62208796	601	38618											
CASC5	57082	broad.mit.edu	37	chr15	40937929	40937929	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaaagtcttcactcaccaaGgaaaagtggctctgtatggc	9	10	4	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:40937929G>T	uc010bbs.1	+	17	6204	c.6043G>T	c.(6043-6045)GGA>TGA	p.G2015*	CASC5_uc010bbt.1_Nonsense_Mutation_p.G1989*	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	2015	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.|Potential.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CACTCACCAAGGAAAAGTGGC	0.363													T	40937929	G	T	40937929	4	4	48	1	0	0	0	0	0	1	0	0	2663	1001	35	5	6105	5	CASC5	15	40937929	Nonsense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	615333	40937929	61593463	602	38619											
MAPKBP1	23005	broad.mit.edu	37	chr15	42106789	42106789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgccaggtatccagacaCcattgccttgacctttgatc	8	12	0	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:42106789C>T	uc001zok.3	+	11	1326	c.1040C>T	c.(1039-1041)ACC>ATC	p.T347I	MAPKBP1_uc001zoj.3_Missense_Mutation_p.T341I|MAPKBP1_uc010bcj.2_Intron|MAPKBP1_uc010bci.2_Missense_Mutation_p.T341I|MAPKBP1_uc010udb.1_Missense_Mutation_p.T229I|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Intron	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	347	WD 5.									central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TATCCAGACACCATTGCCTTG	0.498													T	42106789	C	T	42106789	3	4	48	1	0	0	0	0	1	0	0	0	9292	507	18	4	1078	4	MAPKBP1	15	42106789	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1168860	42106789	60424603	603	38620											
MAPKBP1	23005	broad.mit.edu	37	chr15	42111819	42111819	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccagcccagctttgcccCgaagcctgtcccactgggag	10	18	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:42111819C>T	uc001zok.3	+	23	2756	c.2470C>T	c.(2470-2472)CGA>TGA	p.R824*	MAPKBP1_uc001zoj.3_Nonsense_Mutation_p.R818*|MAPKBP1_uc010bcj.2_Nonsense_Mutation_p.R325*|MAPKBP1_uc010bci.2_Nonsense_Mutation_p.R818*|MAPKBP1_uc010udb.1_Nonsense_Mutation_p.R657*|MAPKBP1_uc010bck.2_Nonsense_Mutation_p.R35*|MAPKBP1_uc010bcl.2_Nonsense_Mutation_p.R325*	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	824										central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGCTTTGCCCCGAAGCCTGTC	0.612													T	42111819	C	T	42111819	4	4	48	1	0	0	0	0	0	1	0	0	9292	644	23	1	2556	1	MAPKBP1	15	42111819	Nonsense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	5030	42111819	60419573	604	38621											
SPTBN5	51332	broad.mit.edu	37	chr15	42150833	42150833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgttggtgcatgctcgcGtccagctccgcctggaaatt	12	12	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:42150833G>A	uc001zos.2	-	49	8421	c.8088C>T	c.(8086-8088)GAC>GAT	p.D2696D		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2731	Spectrin 24.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCATGCTCGCGTCCAGCTCCG	0.617													A	42150833	G	A	42150833	2	1	48	1	0	0	0	0	0	0	0	1	15121	1136	40	1		1	SPTBN5	15	42150833	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	39014	42150833	60380559	605	38622											
UBR1	197131	broad.mit.edu	37	chr15	43317086	43317086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctattgcccgctcaaataCggtcctgagaatgtacatca	8	11	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:43317086C>T	uc001zqq.2	-	25	2746	c.2680G>A	c.(2680-2682)GTA>ATA	p.V894I	UBR1_uc010udk.1_Missense_Mutation_p.V894I	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	894					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CGCTCAAATACGGTCCTGAGA	0.433													T	43317086	C	T	43317086	3	4	48	1	0	0	0	0	1	0	0	0	16898	536	19	1	2661	1	UBR1	15	43317086	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1166253	43317086	59214306	606	38623											
TRPM7	54822	broad.mit.edu	37	chr15	50931657	50931658	+	Frame_Shift_Ins	INS	-	-	C													catttctgttttcaatcactINSccccatggagctattccgat							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:50931657_50931658insC	uc001zyt.3	-	6	887_888	c.623_624insG	c.(622-624)GGAfs	p.G208fs	TRPM7_uc010bew.1_Frame_Shift_Ins_p.G208fs	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	208	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTTCAATCACTCCCCATGGAGC	0.327													C	50931658	-	C	50931657	7	5	48	1	0	1	1	0	0	0	0	0	16588	1538	54	0	5109	0	TRPM7	15	50931657	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	7614571	50931657	51599735	607	38624	125	2									
TRPM7	54822	broad.mit.edu	37	chr15	50931658	50931659	+	Frame_Shift_Ins	INS	-	-	C													atttctgttttcaatcactcINScccatggagctattccgata							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:50931657_50931658T>TC	uc001zyt.4	-	5	905_906	c.623_624A>GA	c.(622-624)ggafs	p.G208fs	TRPM7_uc010bew.2_Frame_Shift_Ins_p.G208fs	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	208					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTTCAATCACTCCCCATGGAGC	0.327													C	50931659	-	C	50931658	7	5	48	1	0	1	1	0	0	0	0	0	16588	855	30	0	5110	0	TRPM7	15	50931658	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	1	50931658	51599734	608	38625	125	2									
GLDN	342035	broad.mit.edu	37	chr15	51634200	51634200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgcgccgcatatccgcgccGagagccatgacatgctgatg	12	15	0	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:51634200G>A	uc002aba.2	+	1	488	c.319G>A	c.(319-321)GAG>AAG	p.E107K	GLDN_uc010bez.1_Missense_Mutation_p.E107K	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	107	Extracellular (Potential).				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TATCCGCGCCGAGAGCCATGA	0.721													A	51634200	G	A	51634200	3	1	48	1	0	0	0	0	1	0	0	0	6434	1059	37	1	321	1	GLDN	15	51634200	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	702542	51634200	50897192	609	38626											
WDR72	256764	broad.mit.edu	37	chr15	54025291	54025291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcatgatggcagtgatgCtgtggggaggggccttctgt	17	6	2	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:54025291C>T	uc002acj.2	-	2	98	c.56G>A	c.(55-57)AGC>AAC	p.S19N	WDR72_uc010bfi.1_Missense_Mutation_p.S19N	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	19	WD 1.									lung(1)|skin(1)	2				all cancers(107;0.0511)		GGCAGTGATGCTGTGGGGAGG	0.512													T	54025291	C	T	54025291	3	4	48	1	0	0	0	0	1	0	0	0	17319	797	28	2	3328	2	WDR72	15	54025291	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2391091	54025291	48506101	610	38627											
UNC13C	440279	broad.mit.edu	37	chr15	54307129	54307129	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catccacccaggaaggttttGattatgaaacaaacagtctt	7	9	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:54307129G>A	uc002ack.2	+	1	2029	c.2029G>A	c.(2029-2031)GAT>AAT	p.D677N		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	677					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGAAGGTTTTGATTATGAAAC	0.403													A	54307129	G	A	54307129	3	1	48	1	0	0	0	0	1	0	0	0	16983	1290	45	4	2031	4	UNC13C	15	54307129	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	281838	54307129	48224263	611	38628											
SLTM	79811	broad.mit.edu	37	chr15	59180672	59180672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attaaatctgttctgttggcGagagtagtcggatccatggc	12	7	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:59180672G>A	uc002afp.2	-	17	2375	c.2287C>T	c.(2287-2289)CGC>TGC	p.R763C	SLTM_uc002afn.2_Missense_Mutation_p.R305C|SLTM_uc002afo.2_Missense_Mutation_p.R745C|SLTM_uc002afq.2_Missense_Mutation_p.R332C|SLTM_uc010bgd.2_Missense_Mutation_p.R332C	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	763	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						TTCTGTTGGCGAGAGTAGTCG	0.428													A	59180672	G	A	59180672	3	1	48	1	0	0	0	0	1	0	0	0	14754	1058	37	1	837	1	SLTM	15	59180672	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	4873543	59180672	43350720	612	38629											
USP3	9960	broad.mit.edu	37	chr15	63882887	63882887	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggacattacacagcataCgcaactcacgaaggccgctg	9	13	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:63882887C>T	uc002amf.2	+	15	1554	c.1425C>T	c.(1423-1425)TAC>TAT	p.Y475Y	USP3_uc002amg.2_Silent_p.Y390Y|USP3_uc002amh.2_Silent_p.Y453Y|USP3_uc010uij.1_Silent_p.Y431Y|USP3_uc010uik.1_Silent_p.Y226Y|USP3_uc010bgs.2_Silent_p.Y458Y|USP3_uc002ami.2_Silent_p.Y306Y|uc002amj.2_Intron|uc002amk.2_Intron|uc002aml.2_Intron	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN	ubiquitin thiolesterase 3	475					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(80;0.0187)		ACACAGCATACGCAACTCACG	0.443													T	63882887	C	T	63882887	2	4	48	1	0	0	0	0	0	0	0	1	17057	547	19	1		1	USP3	15	63882887	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	4702215	63882887	38648505	613	38630											
DIS3L	115752	broad.mit.edu	37	chr15	66607413	66607413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatccacgggatgaaggctcGaaaccgctcaattcatggag	11	10	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:66607413G>A	uc010ujm.1	+	7	869	c.854G>A	c.(853-855)CGA>CAA	p.R285Q	DIS3L_uc010ujl.1_5'UTR|DIS3L_uc002app.2_Missense_Mutation_p.R202Q|DIS3L_uc002apq.2_Missense_Mutation_p.R285Q|DIS3L_uc010bho.2_Missense_Mutation_p.R151Q	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S.	285					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			ovary(2)	2						ATGAAGGCTCGAAACCGCTCA	0.483													A	66607413	G	A	66607413	3	1	48	1	0	0	0	0	1	0	0	0	4536	1058	37	1	880	1	DIS3L	15	66607413	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2724526	66607413	35923979	614	38631											
PML	5371	broad.mit.edu	37	chr15	74337044	74337044	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtgctttgcctccctgCagcccctggtgcaggcagct	12	15	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:74337044C>T	uc002awv.2	+	9	2484	c.2344C>T	c.(2344-2346)CAG>TAG	p.Q782*	PML_uc002awu.2_Nonsense_Mutation_p.Q734*|PML_uc010ule.1_Nonsense_Mutation_p.Q343*	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	782					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						TGCCTCCCTGCAGCCCCTGGT	0.682			T	RARA|PAX5	APL|ALL								T	74337044	C	T	74337044	4	4	48	1	0	0	0	0	0	1	0	0	12135	711	25	2	3395	2	PML	15	74337044	Nonsense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	7729631	74337044	28194348	615	38632											
SCAPER	49855	broad.mit.edu	37	chr15	77064150	77064150	+	Frame_Shift_Del	DEL	T	T	-													ctgctggaaatttttcttcaTttacttgtaaaggaggtgta							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:77064149_77064149AT>A	uc002bby.3	-	8	1241	c.1182_1182AT>T	c.(1180-1182)aatfs	p.N394fs	SCAPER_uc002bbx.3_Frame_Shift_Del_p.N148fs|SCAPER_uc002bbz.1_Frame_Shift_Del_p.N259fs|SCAPER_uc002bca.1_Frame_Shift_Del_p.N259fs|SCAPER_uc002bcb.1_Frame_Shift_Del_p.N394fs|SCAPER_uc002bcc.1_Frame_Shift_Del_p.N394fs	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	393	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ATTTTTCTTCATTTACTTGTA	0.373													-	77064150	T	-	77064150	7	5	48	1	0	1	0	1	0	0	0	0	13878	1493	52	0	3113	0	SCAPER	15	77064150	Frame_Shift_Del	DEL	T	TCGA-BR-7703-01A-11D-2053-08	2727106	77064150	25467242	616	38633											
KIAA1199	57214	broad.mit.edu	37	chr15	81234667	81234667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacctctggaacgacttcGcttacattgaagtaagtgcc	8	12	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:81234667G>A	uc002bfw.1	+	26	3948	c.3688G>A	c.(3688-3690)GCT>ACT	p.A1230T	KIAA1199_uc010unn.1_Missense_Mutation_p.A1230T	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	1230										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						GAACGACTTCGCTTACATTGA	0.478													A	81234667	G	A	81234667	3	1	48	1	0	0	0	0	1	0	0	0	8213	1087	38	1	3786	1	KIAA1199	15	81234667	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	4170517	81234667	21296725	617	38634											
TMC3	342125	broad.mit.edu	37	chr15	81627235	81627235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgttgttttggggtgtgcccGagtgcgctgaggacagctgg	18	8	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:81627235G>A	uc002bgo.1	-	21	2285	c.2285C>T	c.(2284-2286)TCG>TTG	p.S762L	TMC3_uc010blr.1_RNA	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	762	Cytoplasmic (Potential).					integral to membrane				ovary(1)|liver(1)	2						GGGTGTGCCCGAGTGCGCTGA	0.587													A	81627235	G	A	81627235	3	1	48	1	0	0	0	0	1	0	0	0	15983	1059	37	1	1025	1	TMC3	15	81627235	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	392568	81627235	20904157	618	38635											
AKAP13	11214	broad.mit.edu	37	chr15	86278855	86278855	+	Frame_Shift_Del	DEL	A	A	-													acggaatcagatagtggcctAaaaaaggtatttctctttaa							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:86278855delA	uc002blv.1	+	32	7676	c.7506delA	c.(7504-7506)CTAfs	p.L2502fs	AKAP13_uc002blu.1_Frame_Shift_Del_p.L2506fs|AKAP13_uc002blw.1_Frame_Shift_Del_p.L967fs|AKAP13_uc002blx.1_Frame_Shift_Del_p.L747fs	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2502	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						ATAGTGGCCTAAAAAAGGTAT	0.358													-	86278855	A	-	86278855	7	5	48	1	0	1	0	1	0	0	0	0	449	349	13	0	7698	0	AKAP13	15	86278855	Frame_Shift_Del	DEL	A	TCGA-BR-7703-01A-11D-2053-08	4651620	86278855	16252537	619	38636											
DET1	55070	broad.mit.edu	37	chr15	89074847	89074847	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagtgggtacctgccttGcctgaactgatccgccggcg	13	14	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:89074847G>A	uc002bmr.2	-	2	242	c.90C>T	c.(88-90)GGC>GGT	p.G30G	DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Silent_p.G41G	NM_001144074	NP_001137546	Q7L5Y6	DET1_HUMAN	de-etiolated 1 isoform 2	30						nucleus				lung(1)|pancreas(1)	2	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TACCTGCCTTGCCTGAACTGA	0.478													A	89074847	G	A	89074847	2	1	48	1	0	0	0	0	0	0	0	1	4450	1306	46	2		2	DET1	15	89074847	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2795992	89074847	13456545	620	38637											
IQGAP1	8826	broad.mit.edu	37	chr15	91040462	91040462	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacgatgttatctttcaacAggtttaaaaatgttatattt	5	4	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:91040462A>G	uc002bpl.1	+	37	4853	c.4752_splice	c.e37-2	p.Q1584_splice	IQGAP1_uc010uqg.1_Splice_Site_p.Q205_splice	NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1						energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATCTTTCAACAGGTTTAAAAA	0.328													G	91040462	A	G	91040462	5	3	48	1	0	0	0	0	0	0	1	0	7814	202	7	3	4896	3	IQGAP1	15	91040462	Splice_Site	SNP	A	TCGA-BR-7703-01A-11D-2053-08	1965615	91040462	11490930	621	38638											
MCTP2	55784	broad.mit.edu	37	chr15	94901733	94901733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtgtaagagtgcaaatcCgcagtggcaggaacagtttg	13	7	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:94901733C>T	uc002btj.2	+	9	1258	c.1193C>T	c.(1192-1194)CCG>CTG	p.P398L	MCTP2_uc010urg.1_Intron|MCTP2_uc002bti.2_Missense_Mutation_p.P398L|MCTP2_uc010boj.2_Missense_Mutation_p.P127L|MCTP2_uc010bok.2_Missense_Mutation_p.P398L|MCTP2_uc002btk.3_Intron|MCTP2_uc002btl.2_Intron	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	398	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGTGCAAATCCGCAGTGGCAG	0.378													T	94901733	C	T	94901733	3	4	48	1	0	0	0	0	1	0	0	0	9401	652	23	1	1227	1	MCTP2	15	94901733	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	3861271	94901733	7629659	622	38639											
MEF2A	4205	broad.mit.edu	37	chr15	100250898	100250898	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcaactcgccaggaatgCtgtcgctgggacaggtgtcg	14	11	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:100250898C>T	uc010urw.1	+	10	1434	c.1075C>T	c.(1075-1077)CTG>TTG	p.L359L	MEF2A_uc010urv.1_Silent_p.L289L|MEF2A_uc010bos.2_Silent_p.L349L|MEF2A_uc002bvf.2_Silent_p.L351L|MEF2A_uc002bve.2_Silent_p.L357L|MEF2A_uc002bvg.2_Silent_p.L349L|MEF2A_uc002bvi.2_Silent_p.L349L|MEF2A_uc010bot.2_Silent_p.L281L	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A isoform 1	359					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			ovary(1)	1	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GCCAGGAATGCTGTCGCTGGG	0.527													T	100250898	C	T	100250898	2	4	48	1	0	0	0	0	0	0	0	1	9455	796	28	2		2	MEF2A	15	100250898	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	5349165	100250898	2280494	623	38640											
RHOT2	89941	broad.mit.edu	37	chr16	720944	720944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctggaggacgtgaagaCggtggtgtgcaggaacgtgg	20	7	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:720944C>T	uc002cip.2	+	10	759	c.692C>T	c.(691-693)ACG>ATG	p.T231M	RHOT2_uc002ciq.2_Missense_Mutation_p.T124M|RHOT2_uc010bqy.2_Translation_Start_Site	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	ras homolog gene family, member T2	231	Mitochondrial intermembrane (Potential).				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			pancreas(1)	1		Hepatocellular(780;0.0218)				GACGTGAAGACGGTGGTGTGC	0.697													T	720944	C	T	720944	3	4	48	1	0	0	0	0	1	0	0	0	13344	536	19	1	730	1	RHOT2	16	720944	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08		720944	89633809	624	38641											
CCDC78	124093	broad.mit.edu	37	chr16	773012	773012	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgtgcccgctcccgtTccagctctgcctggcatggg	13	16	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:773012T>C	uc002cjg.2	-	13	1313	c.1207A>G	c.(1207-1209)AAC>GAC	p.N403D	CCDC78_uc002cjf.2_Missense_Mutation_p.E253G|CCDC78_uc002cji.3_3'UTR|CCDC78_uc002cjj.3_3'UTR|CCDC78_uc002cjh.2_Missense_Mutation_p.E163G	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	403										central_nervous_system(1)	1		Hepatocellular(780;0.0218)				CCGCTCCCGTTCCAGCTCTGC	0.647													C	773012	T	C	773012	3	2	48	1	0	0	0	0	1	0	0	0	2852	1783	62	3	117	3	CCDC78	16	773012	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	52068	773012	89581741	625	38642											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1817234	1817234	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatggctgttgtgtacgAccgcgtgtggtgtggctaca	15	9	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:1817234A>G	uc002cmk.2	+	26	3290	c.3170A>G	c.(3169-3171)GAC>GGC	p.D1057G	MAPK8IP3_uc002cml.2_Missense_Mutation_p.D1051G|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.D1058G	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	1057					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						GTTGTGTACGACCGCGTGTGG	0.632													G	1817234	A	G	1817234	3	3	48	1	0	0	0	0	1	0	0	0	9286	275	10	3	3288	3	MAPK8IP3	16	1817234	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	1044222	1817234	88537519	626	38643											
C16orf73	254528	broad.mit.edu	37	chr16	1889367	1889367	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactgagaaagacagatttAaagtccaaggagtttttgtt	9	4	0	3	rs145222212		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:1889367A>C	uc002cne.2	-	12	1225	c.1107T>G	c.(1105-1107)TTT>TTG	p.F369L	FAHD1_uc002cnd.2_3'UTR|FAHD1_uc010brz.2_3'UTR|C16orf73_uc010uvq.1_Missense_Mutation_p.F369L|C16orf73_uc010uvr.1_Missense_Mutation_p.F162L	NM_152764	NP_689977	Q8N635	CP073_HUMAN	hypothetical protein LOC254528 isoform 2	369					meiosis	cytoplasm					0						AGACAGATTTAAAGTCCAAGG	0.393													C	1889367	A	C	1889367	3	2	48	1	0	0	0	0	1	0	0	0	1832	359	13	5	320	5	C16orf73	16	1889367	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	72133	1889367	88465386	627	38644											
E4F1	1877	broad.mit.edu	37	chr16	2285460	2285460	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggacaagtggcactgaaCaggccactgtgaccatggtg	14	10	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:2285460C>T	uc002cpm.2	+	14	2290	c.2242C>T	c.(2242-2244)CAG>TAG	p.Q748*	E4F1_uc010bsi.2_3'UTR|E4F1_uc010bsj.2_Nonsense_Mutation_p.Q571*|DNASE1L2_uc002cpn.2_5'Flank|DNASE1L2_uc002cpo.2_5'Flank|DNASE1L2_uc002cpp.2_5'Flank|DNASE1L2_uc002cpq.2_5'Flank	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	p120E4F	748					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						TGGCACTGAACAGGCCACTGT	0.657													T	2285460	C	T	2285460	4	4	48	1	0	0	0	0	0	1	0	0	4874	479	17	4	2296	4	E4F1	16	2285460	Nonsense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	396093	2285460	88069293	628	38645											
GLYR1	84656	broad.mit.edu	37	chr16	4862229	4862230	+	Frame_Shift_Ins	INS	-	-	C													cgggggcttccagaaagcgcINSccccccctggacacaatcac							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:4862228_4862229G>GC	uc002cxx.4	-	12	1177_1178	c.1140_1141C>GC	c.(1138-1143)gggcgcfs	p.G380fs	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Frame_Shift_Ins_p.G294fs|GLYR1_uc002cya.2_Frame_Shift_Ins_p.G374fs|GLYR1_uc010uxv.1_Frame_Shift_Ins_p.G299fs	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	380					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	p.R381fs*15(2)|p.G379R(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCCAGAAAGCGCCCCCCCCTGG	0.574													C	4862230	-	C	4862229	7	5	48	1	0	1	1	0	0	0	0	0	6483	726	26	0	537	0	GLYR1	16	4862229	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	2576769	4862229	85492524	629	38646											
A2BP1	54715	broad.mit.edu	37	chr16	7645563	7645563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgcagggatttggtttcGtaactttcgaaaatagtgcc	11	7	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:7645563G>A	uc002cys.2	+	8	1469	c.481G>A	c.(481-483)GTA>ATA	p.V161I	A2BP1_uc010buf.1_Missense_Mutation_p.V161I|A2BP1_uc002cyr.1_Missense_Mutation_p.V160I|A2BP1_uc002cyt.2_Missense_Mutation_p.V161I|A2BP1_uc010uxz.1_Missense_Mutation_p.V204I|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Missense_Mutation_p.V161I|A2BP1_uc010uyb.1_Missense_Mutation_p.V161I|A2BP1_uc002cyw.2_Missense_Mutation_p.V181I|A2BP1_uc002cyy.2_Missense_Mutation_p.V181I|A2BP1_uc002cyx.2_Missense_Mutation_p.V181I|A2BP1_uc010uyc.1_Missense_Mutation_p.V181I	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	161	RRM.				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		ATTTGGTTTCGTAACTTTCGA	0.443													A	7645563	G	A	7645563	3	1	48	1	0	0	0	0	1	0	0	0	3	1145	40	1	590	1	A2BP1	16	7645563	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2783334	7645563	82709190	630	38647											
ZC3H7A	29066	broad.mit.edu	37	chr16	11846657	11846657	+	Frame_Shift_Del	DEL	T	T	-													actgcttctcactgttgcagTttttcccacacatccagcag							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:11846656_11846656GT>G	uc002dbk.3	-	20	2793	c.2595_2595AC>C	c.(2593-2595)aacfs	p.N865fs	ZC3H7A_uc002dbh.3_Frame_Shift_Del_p.N5fs|ZC3H7A_uc002dbi.3_Frame_Shift_Del_p.N53fs|ZC3H7A_uc002dbj.3_Non-coding_Transcript|ZC3H7A_uc002dbl.3_Frame_Shift_Del_p.N865fs	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	865						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CACTGTTGCAGTTTTTCCCAC	0.522													-	11846657	T	-	11846657	7	5	48	1	0	1	0	1	0	0	0	0	17569	1725	60	0	329	0	ZC3H7A	16	11846657	Frame_Shift_Del	DEL	T	TCGA-BR-7703-01A-11D-2053-08	4201094	11846657	78508096	631	38648											
SNX29	92017	broad.mit.edu	37	chr16	12492337	12492338	+	Frame_Shift_Del	DEL	AG	AG	-													gagtcaaacgtccgaagaccAgagtttgtcggattttgaaa							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:12492337_12492338delAG	uc002dby.3	+	10	835_836	c.779_780delAG	c.(778-780)CAGfs	p.Q260fs		NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	260					cell communication		phosphatidylinositol binding			ovary(1)	1						TCCGAAGACCAGAGTTTGTCGG	0.475													-	12492338	AG	-	12492337	7	5	48	1	0	1	0	1	0	0	0	0	14898	188	7	0	813	0	SNX29	16	12492337	Frame_Shift_Del	DEL	AG	TCGA-BR-7703-01A-11D-2053-08	645680	12492337	77862416	632	38649											
CPPED1	55313	broad.mit.edu	37	chr16	12798506	12798506	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggatgaacttgtctgccaaCttcttccgagtggacttgct	10	10	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:12798506C>A	uc002dca.3	-	3	801	c.690G>T	c.(688-690)AAG>AAT	p.K230N	CPPED1_uc002dcb.3_Intron|CPPED1_uc002dbz.3_RNA	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain	230				K -> E (in Ref. 2; BAA92034).			hydrolase activity|metal ion binding				0						TGTCTGCCAACTTCTTCCGAG	0.567													A	12798506	C	A	12798506	3	1	48	1	0	0	0	0	1	0	0	0	3822	564	20	5	262	5	CPPED1	16	12798506	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	306169	12798506	77556247	633	38650											
NOMO1	23420	broad.mit.edu	37	chr16	14989451	14989451	+	Frame_Shift_Del	DEL	C	C	-													gcagcctctgacaatagcggCccagaagatgcaaagagaca							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:14989450_14989450GC>G	uc002dcv.3	+	30	3683	c.3617_3617GC>G	c.(3616-3618)ggcfs	p.G1206fs		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	1206						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GACAATAGCGGCCCAGAAGAT	0.562													-	14989451	C	-	14989451	7	5	48	1	0	1	0	1	0	0	0	0	10531	726	26	0	3740	0	NOMO1	16	14989451	Frame_Shift_Del	DEL	C	TCGA-BR-7703-01A-11D-2053-08	2190945	14989451	75365302	634	38651											
TMC5	79838	broad.mit.edu	37	chr16	19455474	19455475	+	Frame_Shift_Ins	INS	-	-	G													gaccccgtgggcagtctttgINSgggagagaatgattaccctg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:19455473_19455474T>TG	uc002dgc.4	+	3	1608_1609	c.859_860T>TG	c.(859-861)tggfs	p.W287fs	TMC5_uc010vaq.2_Frame_Shift_Ins_p.W287fs|TMC5_uc002dgb.4_Frame_Shift_Ins_p.W287fs|TMC5_uc010var.2_Frame_Shift_Ins_p.W287fs	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	287						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGGCAGTCTTTGGGGAGAGAAT	0.495													G	19455475	-	G	19455474	7	5	48	1	0	1	1	0	0	0	0	0	15985	1357	47	0	866	0	TMC5	16	19455474	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	4466023	19455474	70899279	635	38652											
CDR2	1039	broad.mit.edu	37	chr16	22358554	22358554	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgttcctcttggcacTtcttcagcaactcttcatac	5	14	5	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:22358554T>G	uc002dkn.2	-	5	1405	c.1097A>C	c.(1096-1098)AAG>ACG	p.K366T		NM_001802	NP_001793	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2	366	Potential.					nucleus	protein binding			skin(1)	1				GBM - Glioblastoma multiforme(48;0.0188)		CTCTTGGCACTTCTTCAGCAA	0.572													G	22358554	T	G	22358554	3	3	48	1	0	0	0	0	1	0	0	0	3172	1609	56	5	271	5	CDR2	16	22358554	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	2903080	22358554	67996199	636	38653											
HS3ST4	9951	broad.mit.edu	37	chr16	26146979	26146979	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaataaccatggagaagActccaagttactttgtgaca	9	8	0	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:26146979A>G	uc002dof.2	+	2	1173	c.781A>G	c.(781-783)ACT>GCT	p.T261A		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	heparan sulfate D-glucosaminyl	261	Lumenal (Potential).|Substrate binding (By similarity).				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			large_intestine(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.0988)		CATGGAGAAGACTCCAAGTTA	0.473													G	26146979	A	G	26146979	3	3	48	1	0	0	0	0	1	0	0	0	7367	275	10	3	787	3	HS3ST4	16	26146979	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	3788425	26146979	64207774	637	38654											
IL21R	50615	broad.mit.edu	37	chr16	27460530	27460530	+	Frame_Shift_Del	DEL	C	C	-													ccagccccggggacgaaggaCccccccggagctacctccgc							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:27460529_27460529AC>A	uc002dor.2	+	9	2156	c.1608_1608AC>A	c.(1606-1608)ggafs	p.G536fs	IL21R_uc002doq.2_Frame_Shift_Del_p.G514fs|IL21R_uc002dos.2_Frame_Shift_Del_p.G514fs|LOC283888_uc002dot.3_Non-coding_Transcript	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	514					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGGACGAAGGACCCCCCCGGA	0.637			T	BCL6	NHL								-	27460530	C	-	27460530	7	5	48	1	0	1	0	1	0	0	0	0	7671	507	18	0	1573	0	IL21R	16	27460530	Frame_Shift_Del	DEL	C	TCGA-BR-7703-01A-11D-2053-08	1313551	27460530	62894223	638	38655											
CORO1A	11151	broad.mit.edu	37	chr16	30198745	30198745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacccggcccgtgcgtgcaGtgttcgtgtcggaggggaag	19	10	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:30198745G>A	uc002dww.2	+	6	801	c.679G>A	c.(679-681)GTG>ATG	p.V227M	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Missense_Mutation_p.V227M|CORO1A_uc010bzr.2_Missense_Mutation_p.V227M|CORO1A_uc002dwx.2_Missense_Mutation_p.V121M|CORO1A_uc002dwy.1_Missense_Mutation_p.V71M|LOC606724_uc002dwz.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	227	WD 5.				cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity				0						CGTGCGTGCAGTGTTCGTGTC	0.642													A	30198745	G	A	30198745	3	1	48	1	0	0	0	0	1	0	0	0	3753	1029	36	4	697	4	CORO1A	16	30198745	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2738215	30198745	60156008	639	38656											
ZNF689	115509	broad.mit.edu	37	chr16	30616501	30616501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcgccggagtgtgcccgcCggtgactgaccagcagggat	15	13	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:30616501C>T	uc002dyx.2	-	3	907	c.587G>A	c.(586-588)CGG>CAG	p.R196Q	ZNF689_uc010bzy.2_5'UTR	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	zinc finger protein HIT-39	196	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			GTGTGCCCGCCGGTGACTGAC	0.592													T	30616501	C	T	30616501	3	4	48	1	0	0	0	0	1	0	0	0	18091	652	23	1	919	1	ZNF689	16	30616501	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	417756	30616501	59738252	640	38657											
RNF40	9810	broad.mit.edu	37	chr16	30777494	30777494	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cactccttagtttgagatgcTgaatgcagagttagaggaaa	11	6	0	4			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:30777494T>A	uc002dzq.2	+	9	1127	c.1004T>A	c.(1003-1005)CTG>CAG	p.L335Q	RNF40_uc010caa.2_Missense_Mutation_p.L335Q|RNF40_uc010cab.2_Intron|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.L335Q|RNF40_uc010vfb.1_Intron|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	335	Potential.				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)			TTTGAGATGCTGAATGCAGAG	0.587													A	30777494	T	A	30777494	3	1	48	1	0	0	0	0	1	0	0	0	13493	1580	55	5	1034	5	RNF40	16	30777494	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	160993	30777494	59577259	641	38658											
ZNF629	23361	broad.mit.edu	37	chr16	30794713	30794713	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtatggcttctcgcccgcGtggatcttctggtgcttgag	14	11	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:30794713G>A	uc002dzs.1	-	3	1144	c.936C>T	c.(934-936)CAC>CAT	p.H312H		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	312	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			TCTCGCCCGCGTGGATCTTCT	0.637													A	30794713	G	A	30794713	2	1	48	1	0	0	0	0	0	0	0	1	18050	1136	40	1		1	ZNF629	16	30794713	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	17219	30794713	59560040	642	38659											
ZNF629	23361	broad.mit.edu	37	chr16	30795016	30795016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagctgaagcacttgccGcagtcggggcacttgtaggg	14	12	0	1	rs150923812	by1000genomes	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:30795016G>A	uc002dzs.1	-	3	841	c.633C>T	c.(631-633)TGC>TGT	p.C211C		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	211	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			AGCACTTGCCGCAGTCGGGGC	0.642													A	30795016	G	A	30795016	2	1	48	1	0	0	0	0	0	0	0	1	18050	1079	38	1		1	ZNF629	16	30795016	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	303	30795016	59559737	643	38660											
LONP2	83752	broad.mit.edu	37	chr16	48304164	48304164	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttggaggagtatgtgatcAgtctgacattcgaggacaca	12	7	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:48304164A>G	uc002efi.1	+	7	1309	c.1220A>G	c.(1219-1221)CAG>CGG	p.Q407R	LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.Q363R	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	407					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0						GTATGTGATCAGTCTGACATT	0.453													G	48304164	A	G	48304164	3	3	48	1	0	0	0	0	1	0	0	0	8893	188	7	3	1246	3	LONP2	16	48304164	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	17509148	48304164	42050589	644	38661											
ZNF423	23090	broad.mit.edu	37	chr16	49670324	49670324	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgagccatcatcctcgccCggccggatattgtggtcccg	12	15	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:49670324C>T	uc002efs.2	-	5	3037	c.2739G>A	c.(2737-2739)CCG>CCA	p.P913P	ZNF423_uc010vgn.1_Silent_p.P796P	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	913					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				CATCCTCGCCCGGCCGGATAT	0.592													T	49670324	C	T	49670324	2	4	48	1	0	0	0	0	0	0	0	1	17895	639	23	1		1	ZNF423	16	49670324	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1366160	49670324	40684429	645	38662											
ADCY7	113	broad.mit.edu	37	chr16	50338342	50338342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggccctgaagatgcgggcGtcagtgcgcatgacccggta	16	12	1	3	rs139027886		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:50338342G>A	uc002egd.1	+	10	1708	c.1440G>A	c.(1438-1440)GCG>GCA	p.A480A	ADCY7_uc002egb.1_Silent_p.A480A|ADCY7_uc002egc.1_Silent_p.A480A	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	480	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	AGATGCGGGCGTCAGTGCGCA	0.687													A	50338342	G	A	50338342	2	1	48	1	0	0	0	0	0	0	0	1	299	1132	40	1		1	ADCY7	16	50338342	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	668018	50338342	40016411	646	38663											
SNX20	124460	broad.mit.edu	37	chr16	50711346	50711346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtgcgggaggtcggggCcagtggctggtgcttcctgc	20	10	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:50711346C>T	uc002egk.2	-	2	265	c.92G>A	c.(91-93)GGC>GAC	p.G31D	SNX20_uc010vgp.1_Missense_Mutation_p.G31D|SNX20_uc002egi.3_Missense_Mutation_p.G31D	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	sorting nexin 20 isoform 1	31					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			ovary(1)	1						GAGGTCGGGGCCAGTGGCTGG	0.617													T	50711346	C	T	50711346	3	4	48	1	0	0	0	0	1	0	0	0	14892	739	26	2	1013	2	SNX20	16	50711346	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	373004	50711346	39643407	647	38664											
NLRC5	84166	broad.mit.edu	37	chr16	57113198	57113201	+	Frame_Shift_Del	DEL	AGAT	AGAT	-													ggagctcccgctgctcagacAgatagagtaagtagcctccc							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:57113197_57113200CAGAT>C	uc021tiu.1	+	43	5357_5360	c.5230_5233CAGAT>C	c.(5230-5235)cagatafs	p.Q1744fs	NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_Frame_Shift_Del_p.Q286fs|NLRC5_uc002ekr.1_Frame_Shift_Del_p.Q631fs	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1744					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCTGCTCAGACAGATAGAGTAAGT	0.598													-	57113201	AGAT	-	57113198	7	5	48	1	0	1	0	1	0	0	0	0	10470	188	7	0	5401	0	NLRC5	16	57113198	Frame_Shift_Del	DEL	AGAT	TCGA-BR-7703-01A-11D-2053-08	6401852	57113198	33241555	648	38665											
GPR56	9289	broad.mit.edu	37	chr16	57690467	57690467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgctgggtgtgagaccGtcaggagagaaacccaaaca	14	9	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:57690467G>A	uc002emb.2	+	10	1397	c.1105G>A	c.(1105-1107)GTC>ATC	p.V369I	GPR56_uc002elz.1_Missense_Mutation_p.V199I|GPR56_uc002ema.1_Missense_Mutation_p.V194I|GPR56_uc002emc.2_Missense_Mutation_p.V369I|GPR56_uc002emf.2_Missense_Mutation_p.V369I|GPR56_uc010vhs.1_Missense_Mutation_p.V369I|GPR56_uc002emd.2_Missense_Mutation_p.V369I|GPR56_uc002eme.2_Missense_Mutation_p.V369I|GPR56_uc010vht.1_Missense_Mutation_p.V374I|GPR56_uc002emg.3_Missense_Mutation_p.V369I|GPR56_uc010vhu.1_Missense_Mutation_p.V194I	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	369	GPS.|Extracellular (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						GTGTGAGACCGTCAGGAGAGA	0.607													A	57690467	G	A	57690467	3	1	48	1	0	0	0	0	1	0	0	0	6700	1145	40	1	1150	1	GPR56	16	57690467	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	577269	57690467	32664286	649	38666											
GFOD2	81577	broad.mit.edu	37	chr16	67709273	67709273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccctggaaggactggcGcaaggcctgcaccatgtaga	13	13	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:67709273G>A	uc002eub.2	-	3	1238	c.943C>T	c.(943-945)CGC>TGC	p.R315C	GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.R210C	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain	315						proteinaceous extracellular matrix	binding|oxidoreductase activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		AAGGACTGGCGCAAGGCCTGC	0.677													A	67709273	G	A	67709273	3	1	48	1	0	0	0	0	1	0	0	0	6344	1087	38	1	218	1	GFOD2	16	67709273	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	10018806	67709273	22645480	650	38667											
COG4	25839	broad.mit.edu	37	chr16	70542363	70542363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggttgttctgaacatgcCggaactgcaacataccacag	9	11	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:70542363C>T	uc002ezc.2	-	8	1018	c.1007G>A	c.(1006-1008)CGG>CAG	p.R336Q	COG4_uc002ezb.2_5'UTR|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.R336Q|COG4_uc002eze.2_Missense_Mutation_p.R30Q	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	332					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				CTGAACATGCCGGAACTGCAA	0.423													T	70542363	C	T	70542363	3	4	48	1	0	0	0	0	1	0	0	0	3660	652	23	1	1410	1	COG4	16	70542363	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2833090	70542363	19812390	651	38668											
HYDIN	54768	broad.mit.edu	37	chr16	71054191	71054191	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctttatggccaagggctgGtaatcaggtttcaggatact	11	7	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:71054191G>A	uc002ezr.2	-	22	3344	c.3216C>T	c.(3214-3216)TAC>TAT	p.Y1072Y		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	1072										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CCAAGGGCTGGTAATCAGGTT	0.408													A	71054191	G	A	71054191	2	1	48	1	0	0	0	0	0	0	0	1	7467	1256	44	4		4	HYDIN	16	71054191	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	511828	71054191	19300562	652	38669											
CALB2	794	broad.mit.edu	37	chr16	71423676	71423676	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaatattcaacagctcaccAactacagaaagagcgtcatg	7	10	3	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:71423676A>G	uc002faa.3	+	11	794	c.724A>G	c.(724-726)AAC>GAC	p.N242D	CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_3'UTR	NM_001740	NP_001731	P22676	CALB2_HUMAN	calbindin 2 isoform 1	242	EF-hand 6.						calcium ion binding				0		Ovarian(137;0.125)				ACAGCTCACCAACTACAGAAA	0.542													G	71423676	A	G	71423676	3	3	48	1	0	0	0	0	1	0	0	0	2574	130	5	3	766	3	CALB2	16	71423676	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	369485	71423676	18931077	653	38670											
PMFBP1	83449	broad.mit.edu	37	chr16	72184645	72184645	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggcgatcttgtccccggcCaaggcgagttgctcctgcgc	14	14	1	0	rs146046061		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:72184645C>A	uc002fcc.3	-	5	670	c.498G>T	c.(496-498)TTG>TTT	p.L166F	PMFBP1_uc002fcd.2_Missense_Mutation_p.L166F|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.L21F	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	166	Potential.									ovary(2)	2		Ovarian(137;0.179)				TGTCCCCGGCCAAGGCGAGTT	0.493													A	72184645	C	A	72184645	3	1	48	1	0	0	0	0	1	0	0	0	12134	593	21	5	2653	5	PMFBP1	16	72184645	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	760969	72184645	18170108	654	38671											
ZFHX3	463	broad.mit.edu	37	chr16	72822363	72822363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcagcggggctgagatcGtggctgcagttgccgtgggg	21	8	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:72822363G>A	uc002fck.2	-	10	10485	c.9812C>T	c.(9811-9813)ACG>ATG	p.T3271M	ZFHX3_uc002fcl.2_Missense_Mutation_p.T2357M	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3271					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GGCTGAGATCGTGGCTGCAGT	0.602													A	72822363	G	A	72822363	3	1	48	1	0	0	0	0	1	0	0	0	17631	1145	40	1	1303	1	ZFHX3	16	72822363	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	637718	72822363	17532390	655	38672											
ADAMTS18	170692	broad.mit.edu	37	chr16	77369762	77369762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtggatgggccggggccCgagctccccaaactttacgc	14	15	0	0	rs149189203	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:77369762C>T	uc002ffc.3	-	12	2169	c.1750G>A	c.(1750-1752)GGG>AGG	p.G584R	ADAMTS18_uc010chc.1_Missense_Mutation_p.G172R|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G280R	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	584					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						GGCCGGGGCCCGAGCTCCCCA	0.587													T	77369762	C	T	77369762	3	4	48	1	0	0	0	0	1	0	0	0	263	652	23	1	1963	1	ADAMTS18	16	77369762	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	4547399	77369762	12984991	656	38673											
KCNG4	93107	broad.mit.edu	37	chr16	84270710	84270710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcaccagcttcccggccgCcaggaagctcacgatcaccc	9	18	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:84270710C>T	uc010voc.1	-	2	503	c.382G>A	c.(382-384)GCG>ACG	p.A128T	KCNG4_uc002fhu.1_Missense_Mutation_p.A128T	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	128	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						TTCCCGGCCGCCAGGAAGCTC	0.637													T	84270710	C	T	84270710	3	4	48	1	0	0	0	0	1	0	0	0	8030	739	26	2	1183	2	KCNG4	16	84270710	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	6900948	84270710	6084043	657	38674											
ZFPM1	161882	broad.mit.edu	37	chr16	88600773	88600773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgagcaagaagccgcggCgcccgctccccggagccccg	13	19	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:88600773C>T	uc002fkv.2	+	10	2440	c.2407C>T	c.(2407-2409)CGC>TGC	p.R803C		NM_153813	NP_722520	Q8IX07	FOG1_HUMAN	zinc finger protein, multitype 1	803					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GAAGCCGCGGCGCCCGCTCCC	0.488													T	88600773	C	T	88600773	3	4	48	1	0	0	0	0	1	0	0	0	17654	768	27	1	2445	1	ZFPM1	16	88600773	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	4330063	88600773	1753980	658	38675											
CBFA2T3	863	broad.mit.edu	37	chr16	88945788	88945788	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acgctccgtggtgatgagctCgtgcgctttgcgctccgcgt	14	13	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:88945788C>A	uc002fmm.1	-	11	1738	c.1552G>T	c.(1552-1554)GAG>TAG	p.E518*	CBFA2T3_uc002fml.1_Nonsense_Mutation_p.E432*|CBFA2T3_uc002fmk.1_Nonsense_Mutation_p.E17*	NM_005187	NP_005178	O75081	MTG16_HUMAN	myeloid translocation gene on chromosome 16	518	Potential.		E -> K (in a colorectal cancer sample; somatic mutation).		cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E518K(1)		large_intestine(3)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GTGATGAGCTCGTGCGCTTTG	0.657			T	RUNX1	AML								A	88945788	C	A	88945788	4	1	48	1	0	0	0	0	0	1	0	0	2698	893	31	5	417	5	CBFA2T3	16	88945788	Nonsense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	345015	88945788	1408965	659	38676											
ANKFY1	51479	broad.mit.edu	37	chr17	4082326	4082326	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggctgctgatggccacGtggatgggggttcttccttc	15	9	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:4082326G>A	uc002fxq.1	-	18	2462	c.2424C>T	c.(2422-2424)CAC>CAT	p.H808H	ANKFY1_uc002fxn.2_Silent_p.H850H|ANKFY1_uc002fxo.2_Silent_p.H809H|ANKFY1_uc002fxp.2_Silent_p.H807H|ANKFY1_uc010ckp.2_Silent_p.H750H	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	808	ANK 14.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						TGATGGCCACGTGGATGGGGG	0.448													A	4082326	G	A	4082326	2	1	48	1	0	0	0	0	0	0	0	1	626	1136	40	1		1	ANKFY1	17	4082326	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08		4082326	77112884	660	38677											
MYBBP1A	10514	broad.mit.edu	37	chr17	4455891	4455891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggctttgaggacctccgGcaggatctcctgcaatgtgg	14	11	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:4455891G>A	uc002fyb.3	-	6	654	c.592C>T	c.(592-594)CCG>TCG	p.P198S	MYBBP1A_uc002fxz.3_Missense_Mutation_p.P198S	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	198	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						AGGACCTCCGGCAGGATCTCC	0.552													A	4455891	G	A	4455891	3	1	48	1	0	0	0	0	1	0	0	0	10008	1203	42	2	3518	2	MYBBP1A	17	4455891	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	373565	4455891	76739319	661	38678											
RNF167	26001	broad.mit.edu	37	chr17	4844271	4844272	+	Frame_Shift_Ins	INS	-	-	G													gtggggagcggccccgacccINSgggggctcattcgagcggtg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:4844271_4844272insG	uc002fzq.2	+	3	483_484	c.67_68insG	c.(67-69)CGGfs	p.R23fs	SLC25A11_uc002fzo.1_5'Flank|SLC25A11_uc002fzp.1_5'Flank|RNF167_uc002fzr.2_Frame_Shift_Ins_p.R23fs|RNF167_uc002fzs.2_Frame_Shift_Ins_p.R23fs|RNF167_uc002fzt.2_Frame_Shift_Ins_p.R23fs|RNF167_uc002fzu.2_Frame_Shift_Ins_p.R23fs|RNF167_uc002fzv.2_5'UTR|RNF167_uc002fzw.1_5'UTR|RNF167_uc002fzx.2_5'UTR|RNF167_uc002fzy.2_5'Flank	NM_015528	NP_056343	Q9H6Y7	RN167_HUMAN	ring finger protein 167 precursor	23					negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						GGCCCCGACCCGGGGGCTCATT	0.653													G	4844272	-	G	4844271	7	5	48	1	0	1	1	0	0	0	0	0	13458	643	23	0	69	0	RNF167	17	4844271	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	388380	4844271	76350939	662	38679	126	2									
RNF167	26001	broad.mit.edu	37	chr17	4844272	4844273	+	Frame_Shift_Ins	INS	-	-	G													tggggagcggccccgacccgINSggggctcattcgagcggtga							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:4844271_4844272C>CG	uc002fzs.3	+	1	516_517	c.67_68C>CG	c.(67-69)cggfs	p.R23fs	SLC25A11_uc002fzp.2_5'Flank|SLC25A11_uc002fzo.2_5'Flank|SLC25A11_uc021tod.1_5'Flank|SLC25A11_uc021toe.1_5'Flank|RNF167_uc002fzw.2_Frame_Shift_Ins_p.R23fs|RNF167_uc002fzu.3_Frame_Shift_Ins_p.R23fs|RNF167_uc002fzy.3_5'Flank	NM_015528	NP_056343	Q9H6Y7	RN167_HUMAN	Homo sapiens ring finger protein 167 (RNF167), mRNA.	23					negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(1)	4						GGCCCCGACCCGGGGGCTCATT	0.653													G	4844273	-	G	4844272	7	5	48	1	0	1	1	0	0	0	0	0	13458	1116	39	0	70	0	RNF167	17	4844272	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	1	4844272	76350938	663	38680	126	2									
WSCD1	23302	broad.mit.edu	37	chr17	6023799	6023799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtgtctgtgagcgaggagCggctgctctgcgtggagaac	17	9	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:6023799C>T	uc010cli.2	+	9	1925	c.1546C>T	c.(1546-1548)CGG>TGG	p.R516W	WSCD1_uc002gcn.2_Missense_Mutation_p.R516W|WSCD1_uc002gco.2_Missense_Mutation_p.R516W|WSCD1_uc010clj.2_Missense_Mutation_p.R207W	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	WSC domain containing 1	516						integral to membrane	sulfotransferase activity				0						GAGCGAGGAGCGGCTGCTCTG	0.657													T	6023799	C	T	6023799	3	4	48	1	0	0	0	0	1	0	0	0	17403	759	27	1	1576	1	WSCD1	17	6023799	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1179527	6023799	75171411	664	38681											
ASGR1	432	broad.mit.edu	37	chr17	7077112	7077112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcgcctcctccgagccCgtggccgtaccagtcgtccg	11	19	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:7077112C>T	uc002ges.3	-	9	1152	c.742G>A	c.(742-744)GGG>AGG	p.G248R	ASGR1_uc010clx.1_3'UTR	NM_001671	NP_001662	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	248	Extracellular (Probable).|C-type lectin.				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)	2						CCTCCGAGCCCGTGGCCGTAC	0.697													T	7077112	C	T	7077112	3	4	48	1	0	0	0	0	1	0	0	0	1039	652	23	1	137	1	ASGR1	17	7077112	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1053313	7077112	74118098	665	38682											
TP53	7157	broad.mit.edu	37	chr17	7577523	7577523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcttccagtgtgatgatgGtgaggatgggcctccggttc	15	8	1	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:7577523G>A	uc002gim.2	-	7	952	c.758C>T	c.(757-759)ACC>ATC	p.T253I	TP53_uc002gig.1_Missense_Mutation_p.T253I|TP53_uc002gih.2_Missense_Mutation_p.T253I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.T121I|TP53_uc010cng.1_Missense_Mutation_p.T121I|TP53_uc002gii.1_Missense_Mutation_p.T121I|TP53_uc010cnh.1_Missense_Mutation_p.T253I|TP53_uc010cni.1_Missense_Mutation_p.T253I|TP53_uc002gij.2_Missense_Mutation_p.T253I|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.T160I|TP53_uc002gio.2_Missense_Mutation_p.T121I	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	253	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		T -> A (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.T253S(5)|p.I251_T253delILT(4)|p.T253I(3)|p.T253P(3)|p.T253A(3)|p.L252_I254delLTI(3)|p.T253fs*91(2)|p.T253_I255del(2)|p.T253fs*11(2)|p.T253T(2)|p.L252_T253delLT(1)|p.?(1)|p.P250_T253delPILT(1)|p.T253del(1)|p.T253fs*92(1)|p.R249_T256delRPILTIIT(1)|p.I254fs*10(1)|p.T253N(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGTGATGATGGTGAGGATGGG	0.582		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7577523	G	A	7577523	3	1	48	1	0	0	0	0	1	0	0	0	16378	1261	44	4	532	4	TP53	17	7577523	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	500411	7577523	73617687	666	38683											
DNAH2	146754	broad.mit.edu	37	chr17	7681676	7681676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaggcacaggcaagacCgagaccgtcaaggacctggg	14	13	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:7681676C>T	uc002giu.1	+	34	5444	c.5430C>T	c.(5428-5430)ACC>ACT	p.T1810T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1810	AAA 1 (By similarity).|ATP (Potential).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAGGCAAGACCGAGACCGTCA	0.572													T	7681676	C	T	7681676	2	4	48	1	0	0	0	0	0	0	0	1	4602	639	23	1		1	DNAH2	17	7681676	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	104153	7681676	73513534	667	38684											
GUCY2D	3000	broad.mit.edu	37	chr17	7907470	7907470	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctctgacctcaatctgcAgcaggtagacggtcccggga	12	14	3	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:7907470A>C	uc002gjt.2	+	3	1096	c.1022A>C	c.(1021-1023)CAG>CCG	p.Q341P		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	341	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CTCAATCTGCAGCAGGTAGAC	0.632													C	7907470	A	C	7907470	3	2	48	1	0	0	0	0	1	0	0	0	6897	188	7	5	1028	5	GUCY2D	17	7907470	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	225794	7907470	73287740	668	38685											
PER1	5187	broad.mit.edu	37	chr17	8053891	8053891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccattgctgttggcatcgGtgtcatcggccaggctgggg	15	10	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:8053891G>A	uc002gkd.2	-	2	372	c.134C>T	c.(133-135)ACC>ATC	p.T45I	PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Missense_Mutation_p.T29I|PER1_uc010vus.1_Missense_Mutation_p.T45I	NM_002616	NP_002607	O15534	PER1_HUMAN	period 1	45					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						GTTGGCATCGGTGTCATCGGC	0.647			T	ETV6	AML|CMML			Other_conserved_DNA_damage_response_genes					A	8053891	G	A	8053891	3	1	48	1	0	0	0	0	1	0	0	0	11729	1261	44	4	3826	4	PER1	17	8053891	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	146421	8053891	73141319	669	38686											
MYH13	8735	broad.mit.edu	37	chr17	10219039	10219039	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttccatttgcctcttaaGctcctccagctgctgggtga	8	13	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:10219039G>T	uc002gmk.1	-	29	4045	c.3955C>A	c.(3955-3957)CTT>ATT	p.L1319I		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1319	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TGCCTCTTAAGCTCCTCCAGC	0.507													T	10219039	G	T	10219039	3	4	48	1	0	0	0	0	1	0	0	0	10032	971	34	5	1913	5	MYH13	17	10219039	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2165148	10219039	70976171	670	38687											
TRPV2	51393	broad.mit.edu	37	chr17	16330184	16330184	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcctaccatcagcctacccTgaagaaggcaagggcgtgag	12	12	1	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:16330184T>C	uc002gpy.2	+	7	1611	c.1244T>C	c.(1243-1245)CTG>CCG	p.L415P	TRPV2_uc002gpz.2_5'UTR	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	415	Extracellular (Potential).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CAGCCTACCCTGAAGAAGGCA	0.527													C	16330184	T	C	16330184	3	2	48	1	0	0	0	0	1	0	0	0	16593	1580	55	3	1266	3	TRPV2	17	16330184	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	6111145	16330184	64865026	671	38688											
TNFRSF13B	23495	broad.mit.edu	37	chr17	16843774	16843774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacaggcagagccccagcGtgctgtagaccagggccacc	12	16	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:16843774G>A	uc002gqs.1	-	4	510	c.497C>T	c.(496-498)ACG>ATG	p.T166M	TNFRSF13B_uc010vwt.1_RNA|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.T120M	NM_012452	NP_036584	O14836	TR13B_HUMAN	tumor necrosis factor receptor 13B	166	Helical; Signal-anchor for type III membrane protein; (Potential).				cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			kidney(2)	2						GAGCCCCAGCGTGCTGTAGAC	0.642									IgA_Deficiency_Selective				A	16843774	G	A	16843774	3	1	48	1	0	0	0	0	1	0	0	0	16284	1145	40	1	392	1	TNFRSF13B	17	16843774	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	513590	16843774	64351436	672	38689											
RAI1	10743	broad.mit.edu	37	chr17	17698668	17698668	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggacccccctggggagaaGgtggcctcgttgcccgggga	18	12	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:17698668G>T	uc002grm.2	+	3	2875	c.2406G>T	c.(2404-2406)AAG>AAT	p.K802N	RAI1_uc002grn.1_Missense_Mutation_p.K802N	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	802						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CTGGGGAGAAGGTGGCCTCGT	0.672													T	17698668	G	T	17698668	3	4	48	1	0	0	0	0	1	0	0	0	13007	991	35	5	2408	5	RAI1	17	17698668	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	854894	17698668	63496542	673	38690											
FLII	2314	broad.mit.edu	37	chr17	18152659	18152659	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cctggtgacatagtgtgtgtCttccacagtgtagaagccac	11	10	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:18152659C>G	uc002gsr.1	-	15	1891	c.1840G>C	c.(1840-1842)GAC>CAC	p.D614H	FLII_uc002gsq.1_Missense_Mutation_p.D485H|FLII_uc010cpy.1_Missense_Mutation_p.D603H|FLII_uc010vxn.1_Missense_Mutation_p.D583H|FLII_uc010vxo.1_Missense_Mutation_p.D559H|FLII_uc002gss.1_Missense_Mutation_p.D613H	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	614	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)					TAGTGTGTGTCTTCCACAGTG	0.552													G	18152659	C	G	18152659	3	3	48	1	0	0	0	0	1	0	0	0	5925	913	32	5	2033	5	FLII	17	18152659	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	453991	18152659	63042551	674	38691											
RNF112	7732	broad.mit.edu	37	chr17	19318422	19318422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtgcggccccccagcacGctaagagccgctgccagggg	15	15	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:19318422G>A	uc010vyw.1	+	11	1397	c.1198G>A	c.(1198-1200)GCT>ACT	p.A400T	RNF112_uc010vyv.1_Missense_Mutation_p.A401T|RNF112_uc010vyx.1_Missense_Mutation_p.A283T	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	400							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2						CCCCCAGCACGCTAAGAGCCG	0.632													A	19318422	G	A	19318422	3	1	48	1	0	0	0	0	1	0	0	0	13426	1087	38	1	950	1	RNF112	17	19318422	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1165763	19318422	61876788	675	38692											
CYTSB	92521	broad.mit.edu	37	chr17	20109083	20109083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagtgctgtggagcagaCggcagagagctgcgaagttc	17	9	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:20109083C>T	uc002gwq.2	+	4	1866	c.1721C>T	c.(1720-1722)ACG>ATG	p.T574M	CYTSB_uc010cqx.2_Missense_Mutation_p.T574M|CYTSB_uc002gwr.2_Missense_Mutation_p.T574M|CYTSB_uc002gws.2_Missense_Mutation_p.T574M|CYTSB_uc002gwv.2_Missense_Mutation_p.T493M|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.T350M|CYTSB_uc002gwt.2_Missense_Mutation_p.T493M|CYTSB_uc002gwu.2_Missense_Mutation_p.T493M	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	574						nucleus					0						GTGGAGCAGACGGCAGAGAGC	0.463													T	20109083	C	T	20109083	3	4	48	1	0	0	0	0	1	0	0	0	4210	536	19	1	1775	1	CYTSB	17	20109083	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	790661	20109083	61086127	676	38693											
KCNJ12	3768	broad.mit.edu	37	chr17	21318767	21318767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcaacggcaaggtgcacaCgcggcgcaggtgccgcaacc	15	15	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:21318767C>T	uc002gyv.1	+	3	818	c.113C>T	c.(112-114)ACG>ATG	p.T38M		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	38	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	AAGGTGCACACGCGGCGCAGG	0.622										Prostate(3;0.18)			T	21318767	C	T	21318767	3	4	48	1	0	0	0	0	1	0	0	0	8046	536	19	1	115	1	KCNJ12	17	21318767	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1209684	21318767	59876443	677	38694											
SLC13A2	9058	broad.mit.edu	37	chr17	26822686	26822686	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccacagcgatcgggcctgtCagagtggctgggaaacaagc	14	12	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:26822686C>T	uc002hbh.2	+	10	1389	c.1322C>T	c.(1321-1323)TCA>TTA	p.S441L	SLC13A2_uc010wam.1_Missense_Mutation_p.S397L|SLC13A2_uc010wan.1_Missense_Mutation_p.S490L|SLC13A2_uc010wao.1_Missense_Mutation_p.S398L|SLC13A2_uc002hbi.2_Missense_Mutation_p.S370L	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	441						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TCGGGCCTGTCAGAGTGGCTG	0.622													T	26822686	C	T	26822686	3	4	48	1	0	0	0	0	1	0	0	0	14392	838	29	4	1507	4	SLC13A2	17	26822686	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	5503919	26822686	54372524	678	38695											
NEK8	284086	broad.mit.edu	37	chr17	27067543	27067543	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcaggtgcccatgcccccaGgacaggaagctcagcgagtt	13	13	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:27067543G>T	uc002hcp.2	+	11	1480	c.1480G>T	c.(1480-1482)GGA>TGA	p.G494*		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	494	RCC1 3.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					CATGCCCCCAGGACAGGAAGC	0.557													T	27067543	G	T	27067543	4	4	48	1	0	0	0	0	0	1	0	0	10330	1001	35	5	1522	5	NEK8	17	27067543	Nonsense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	244857	27067543	54127667	679	38696											
ABHD15	116236	broad.mit.edu	37	chr17	27893168	27893168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggccagggcaggccggcctCgaaccactctcggcagcgca	15	16	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:27893168C>T	uc002hed.1	-	1	881	c.817G>A	c.(817-819)GAG>AAG	p.E273K	TP53I13_uc002hee.2_5'Flank	NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15 precursor	273						extracellular region	carboxylesterase activity				0						AGGCCGGCCTCGAACCACTCT	0.677													T	27893168	C	T	27893168	3	4	48	1	0	0	0	0	1	0	0	0	81	893	31	1	597	1	ABHD15	17	27893168	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	825625	27893168	53302042	680	38697											
ATAD5	79915	broad.mit.edu	37	chr17	29167732	29167732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggtgactgaagaaatagCgatacccttaaggcgctcct	10	9	0	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:29167732C>T	uc002hfs.1	+	4	2520	c.2174C>T	c.(2173-2175)GCG>GTG	p.A725V	ATAD5_uc002hft.1_Missense_Mutation_p.A622V	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	725					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAAGAAATAGCGATACCCTTA	0.343													T	29167732	C	T	29167732	3	4	48	1	0	0	0	0	1	0	0	0	1076	768	27	1	2188	1	ATAD5	17	29167732	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1274564	29167732	52027478	681	38698											
ATAD5	79915	broad.mit.edu	37	chr17	29220338	29220338	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcacaatgaaggaagaatgGcataaattcatccagcttct	7	8	3	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:29220338G>A	uc002hfs.1	+	21	4813	c.4467G>A	c.(4465-4467)TGG>TGA	p.W1489*		NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1489					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGGAAGAATGGCATAAATTCA	0.303													A	29220338	G	A	29220338	4	1	48	1	0	0	0	0	0	1	0	0	1076	1212	42	2	4549	2	ATAD5	17	29220338	Nonsense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	52606	29220338	51974872	682	38699											
RHBDL3	162494	broad.mit.edu	37	chr17	30615897	30615897	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccctgctggaggagaaGgggctgagcctctcgcagcg	17	11	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:30615897G>A	uc002hhe.1	+	4	395	c.381G>A	c.(379-381)AAG>AAA	p.K127K	RHBDL3_uc010csw.1_Silent_p.K119K|RHBDL3_uc010csx.1_Silent_p.K127K|RHBDL3_uc010csy.1_Silent_p.K29K|RHBDL3_uc002hhf.1_Silent_p.K29K	NM_138328	NP_612201	P58872	RHBL3_HUMAN	rhomboid protease 3	127					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)				TGGAGGAGAAGGGGCTGAGCC	0.592													A	30615897	G	A	30615897	2	1	48	1	0	0	0	0	0	0	0	1	13323	991	35	4		4	RHBDL3	17	30615897	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1395559	30615897	50579313	683	38700											
ZNF207	7756	broad.mit.edu	37	chr17	30696741	30696741	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgacctccgatgggaaTgagacctcctgtaatgtcgc	10	13	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:30696741T>C	uc002hhh.3	+	11	1548	c.1400T>C	c.(1399-1401)ATG>ACG	p.M467T	ZNF207_uc002hhj.3_Missense_Mutation_p.M483T|ZNF207_uc002hhi.3_Missense_Mutation_p.M452T|ZNF207_uc010csz.2_Missense_Mutation_p.M486T|ZNF207_uc002hhk.1_Missense_Mutation_p.M483T|ZNF207_uc002hhl.1_RNA	NM_003457	NP_003448	O43670	ZN207_HUMAN	zinc finger protein 207 isoform a	467						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CCGATGGGAATGAGACCTCCT	0.527													C	30696741	T	C	30696741	3	2	48	1	0	0	0	0	1	0	0	0	17762	1464	51	3	1494	3	ZNF207	17	30696741	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	80844	30696741	50498469	684	38701											
FKBP10	60681	broad.mit.edu	37	chr17	39975526	39975526	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgattgacgtgcacaacccGaaggacgctgtccagctaga	11	12	0	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:39975526G>A	uc002hxv.2	+	5	1117	c.792G>A	c.(790-792)CCG>CCA	p.P264P	FKBP10_uc002hxw.1_5'UTR	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10 precursor	264					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		TGCACAACCCGAAGGACGCTG	0.612													A	39975526	G	A	39975526	2	1	48	1	0	0	0	0	0	0	0	1	5902	1045	37	1		1	FKBP10	17	39975526	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	9278785	39975526	41219684	685	38702											
NAGLU	4669	broad.mit.edu	37	chr17	40690415	40690415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagttctttactggtcctgCcttcctggcctgggggcgaa	13	11	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:40690415C>T	uc002hzv.2	+	3	930	c.590C>T	c.(589-591)GCC>GTC	p.A197V		NM_000263	NP_000254	P54802	ANAG_HUMAN	alpha-N-acetylglucosaminidase precursor	197						lysosome	alpha-N-acetylglucosaminidase activity				0		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	ACTGGTCCTGCCTTCCTGGCC	0.542													T	40690415	C	T	40690415	3	4	48	1	0	0	0	0	1	0	0	0	10143	739	26	2	600	2	NAGLU	17	40690415	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	714889	40690415	40504795	686	38703											
BECN1	8678	broad.mit.edu	37	chr17	40966560	40966560	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctctgaaatttcagacccAtcttattggccagagcatgg	8	11	3	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:40966560A>G	uc002ibo.3	-	9	1097	c.962T>C	c.(961-963)ATG>ACG	p.M321T	BECN1_uc010whb.1_Missense_Mutation_p.M234T|BECN1_uc010whc.1_Missense_Mutation_p.M245T|BECN1_uc002ibn.2_Missense_Mutation_p.M321T	NM_003766	NP_003757	Q14457	BECN1_HUMAN	beclin 1	321					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			ovary(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TTTCAGACCCATCTTATTGGC	0.498													G	40966560	A	G	40966560	3	3	48	1	0	0	0	0	1	0	0	0	1396	217	8	3	406	3	BECN1	17	40966560	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	276145	40966560	40228650	687	38704											
TMEM106A	113277	broad.mit.edu	37	chr17	41368528	41368528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtgacacagctgaccctcGaggttctgcacctgtccctc	10	15	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:41368528G>A	uc002idn.1	+	6	727	c.490G>A	c.(490-492)GAG>AAG	p.E164K	TMEM106A_uc010why.1_Missense_Mutation_p.E116K|TMEM106A_uc010cze.1_Missense_Mutation_p.E164K|TMEM106A_uc010whz.1_Intron	NM_145041	NP_659478	Q96A25	T106A_HUMAN	transmembrane protein 106A	164						integral to membrane					0		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		GCTGACCCTCGAGGTTCTGCA	0.542													A	41368528	G	A	41368528	3	1	48	1	0	0	0	0	1	0	0	0	16017	1059	37	1	504	1	TMEM106A	17	41368528	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	401968	41368528	39826682	688	38705											
MAPT	4137	broad.mit.edu	37	chr17	44101486	44101486	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggtagactcgccccagctCgccacgctagctgacgaggt	12	14	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:44101486C>T	uc002ijr.3	+	14	2546	c.2226C>T	c.(2224-2226)CTC>CTT	p.L742L	MAPT_uc010dau.2_Silent_p.L760L|MAPT_uc002ijs.3_Silent_p.L425L|MAPT_uc002ijx.3_Silent_p.L396L|MAPT_uc002ijt.3_Silent_p.L367L|MAPT_uc002iju.3_Silent_p.L336L|MAPT_uc002ijv.3_Silent_p.L343L	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	742					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)				CGCCCCAGCTCGCCACGCTAG	0.597													T	44101486	C	T	44101486	2	4	48	1	0	0	0	0	0	0	0	1	9297	871	31	1		1	MAPT	17	44101486	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2732958	44101486	37093724	689	38706											
OR4D2	124538	broad.mit.edu	37	chr17	56247325	56247325	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcatgggtcagatcttcttCttccactttttgggaggtgc	11	9	4	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:56247325C>T	uc010wnp.1	+	1	309	c.309C>T	c.(307-309)TTC>TTT	p.F103F		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D,	103	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						AGATCTTCTTCTTCCACTTTT	0.522													T	56247325	C	T	56247325	2	4	48	1	0	0	0	0	0	0	0	1	11056	912	32	4		4	OR4D2	17	56247325	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	12145839	56247325	24947885	690	38707											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	48	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-BR-7703-01A-11D-2053-08	187836	56435161	24760049	691	38708											
HSF5	124535	broad.mit.edu	37	chr17	56557589	56557589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtaaggagacaaactatctCgacgaaatgaccggtgaaat	10	7	1	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:56557589C>T	uc002iwi.1	-	2	714	c.590G>A	c.(589-591)CGA>CAA	p.R197Q		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	197	By similarity.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAAACTATCTCGACGAAATGA	0.428													T	56557589	C	T	56557589	3	4	48	1	0	0	0	0	1	0	0	0	7399	884	31	1	1220	1	HSF5	17	56557589	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	122428	56557589	24637621	692	38709											
C17orf71	55181	broad.mit.edu	37	chr17	57290847	57290847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccctaaatagtgacatgcCcttatatattctgtcatcct	5	11	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:57290847C>T	uc002ixi.2	+	3	2705	c.2663C>T	c.(2662-2664)CCC>CTC	p.P888L		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	888					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					AGTGACATGCCCTTATATATT	0.438													T	57290847	C	T	57290847	3	4	48	1	0	0	0	0	1	0	0	0	1878	623	22	4	2673	4	C17orf71	17	57290847	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	733258	57290847	23904363	693	38710											
SMARCD2	6603	broad.mit.edu	37	chr17	61911083	61911083	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggtcgttagggtcgacaCtgcaggcagcacatggggag	16	9	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:61911083C>T	uc010deb.1	-	10	1499	c.1182_splice	c.e10-1	p.S394_splice	SMARCD2_uc010wpt.1_Splice_Site_p.S346_splice|SMARCD2_uc010dea.1_Splice_Site_p.S319_splice|SMARCD2_uc010dec.1_Splice_Site_p.S373_splice	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	SWI/SNF-related matrix-associated						chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0						AGGGTCGACACTGCAGGCAGC	0.552													T	61911083	C	T	61911083	5	4	48	1	0	0	0	0	0	0	1	0	14778	579	20	4	430	4	SMARCD2	17	61911083	Splice_Site	SNP	C	TCGA-BR-7703-01A-11D-2053-08	4620236	61911083	19284127	694	38711											
SCN4A	6329	broad.mit.edu	37	chr17	62045681	62045681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatccgacagctttttcacCgactggatcagggcccccac	8	16	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:62045681C>T	uc002jds.1	-	6	815	c.738G>A	c.(736-738)TCG>TCA	p.S246S		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	246	I.		S -> L.		muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GCTTTTTCACCGACTGGATCA	0.592													T	62045681	C	T	62045681	2	4	48	1	0	0	0	0	0	0	0	1	13920	639	23	1		1	SCN4A	17	62045681	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	134598	62045681	19149529	695	38712											
ERN1	2081	broad.mit.edu	37	chr17	62144207	62144207	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccaccacaggggaggcGtagttttggatccacaggac	14	10	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:62144207G>A	uc002jdz.2	-	8	779	c.666C>T	c.(664-666)TAC>TAT	p.Y222Y		NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	222	Lumenal (Potential).				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						CAGGGGAGGCGTAGTTTTGGA	0.537													A	62144207	G	A	62144207	2	1	48	1	0	0	0	0	0	0	0	1	5237	1140	40	1		1	ERN1	17	62144207	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	98526	62144207	19051003	696	38713											
PSMD12	5718	broad.mit.edu	37	chr17	65340757	65340757	+	Frame_Shift_Del	DEL	T	T	-													gttcttcaagtctttccaccTtttttcaccttcctctgtag							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:65340756_65340756CT>C	uc002jfy.3	-	8	1135	c.1049_1049AG>G	c.(1048-1050)aggfs	p.R350fs	PSMD12_uc002jga.3_Frame_Shift_Del_p.R330fs|PSMD12_uc002jfz.3_Frame_Shift_Del_p.R291fs	NM_002816	NP_002807	O00232	PSD12_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 (PSMD12), transcript variant 1, mRNA.	350	PCI.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					GTCTTTCCACCTTTTTTCACC	0.353													-	65340757	T	-	65340757	7	5	48	1	0	1	0	1	0	0	0	0	12695	1608	56	0	334	0	PSMD12	17	65340757	Frame_Shift_Del	DEL	T	TCGA-BR-7703-01A-11D-2053-08	3196550	65340757	15854453	697	38714											
ABCA9	10350	broad.mit.edu	37	chr17	67024767	67024767	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggcagtgatctggccttcAtatatgtcaaacaccacacc	8	12	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:67024767A>G	uc002jhu.2	-	12	1667	c.1524T>C	c.(1522-1524)TAT>TAC	p.Y508Y	ABCA9_uc010dez.2_Silent_p.Y508Y	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	508	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					TCTGGCCTTCATATATGTCAA	0.393													G	67024767	A	G	67024767	2	3	48	1	0	0	0	0	0	0	0	1	39	224	8	3		3	ABCA9	17	67024767	Silent	SNP	A	TCGA-BR-7703-01A-11D-2053-08	1684010	67024767	14170443	698	38715											
ABCA5	23461	broad.mit.edu	37	chr17	67251897	67251897	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcacacagaaagagatgTatttagttgccactttcttt	6	7	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:67251897T>C	uc002jif.2	-	29	5171	c.3953A>G	c.(3952-3954)TAC>TGC	p.Y1318C	ABCA5_uc002jib.2_Missense_Mutation_p.Y284C|ABCA5_uc002jic.2_Missense_Mutation_p.Y541C|ABCA5_uc002jid.2_Missense_Mutation_p.Y235C|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.Y1318C	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	1318	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					GAAAGAGATGTATTTAGTTGC	0.274													C	67251897	T	C	67251897	3	2	48	1	0	0	0	0	1	0	0	0	35	1638	57	3	1015	3	ABCA5	17	67251897	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	227130	67251897	13943313	699	38716											
ABCA5	23461	broad.mit.edu	37	chr17	67270228	67270228	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagtgatgaaccaaaaacAtaaaaatctgaactgtgaaa	7	5	1	5			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:67270228A>G	uc002jif.2	-	19	3854	c.2636T>C	c.(2635-2637)ATG>ACG	p.M879T	ABCA5_uc002jic.2_Missense_Mutation_p.M102T|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.M879T|ABCA5_uc002jih.2_Missense_Mutation_p.M879T|ABCA5_uc010dfe.2_Missense_Mutation_p.M879T	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	879	Helical; (Potential).				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					AACCAAAAACATAAAAATCTG	0.308													G	67270228	A	G	67270228	3	3	48	1	0	0	0	0	1	0	0	0	35	217	8	3	2372	3	ABCA5	17	67270228	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	18331	67270228	13924982	700	38717											
KCNJ16	3773	broad.mit.edu	37	chr17	68128892	68128892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttagagcccaacttctcCgctatacagaagacagtgaa	8	11	1	4	rs148765286		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:68128892C>T	uc002jin.2	+	5	1150	c.664C>T	c.(664-666)CGC>TGC	p.R222C	KCNJ16_uc002jio.2_Missense_Mutation_p.R222C|KCNJ16_uc002jip.2_Missense_Mutation_p.R222C|KCNJ16_uc002jiq.2_Missense_Mutation_p.R254C	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel J16	222	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Breast(10;2.96e-09)					CCAACTTCTCCGCTATACAGA	0.468													T	68128892	C	T	68128892	3	4	48	1	0	0	0	0	1	0	0	0	8050	652	23	1	666	1	KCNJ16	17	68128892	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	858664	68128892	13066318	701	38718											
OTOP2	92736	broad.mit.edu	37	chr17	72926834	72926834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccccacgcgcactctggaCgtggccctgctgatgggtgc	13	15	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:72926834C>T	uc010wrp.1	+	7	1193	c.1104C>T	c.(1102-1104)GAC>GAT	p.D368D		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	otopetrin 2	368						integral to membrane				ovary(3)|large_intestine(1)	4	all_lung(278;0.172)|Lung NSC(278;0.207)					GCACTCTGGACGTGGCCCTGC	0.642													T	72926834	C	T	72926834	2	4	48	1	0	0	0	0	0	0	0	1	11306	535	19	1		1	OTOP2	17	72926834	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	4797942	72926834	8268376	702	38719											
EVPL	2125	broad.mit.edu	37	chr17	74003904	74003904	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcggggacttggagatgatAgagccgatggagagtgagga	19	4	0	5			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:74003904A>G	uc002jqi.2	-	22	5610	c.5382T>C	c.(5380-5382)TCT>TCC	p.S1794S	EVPL_uc010wss.1_Silent_p.S1816S|EVPL_uc010wst.1_Silent_p.S1264S	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1794	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						TGGAGATGATAGAGCCGATGG	0.602													G	74003904	A	G	74003904	2	3	48	1	0	0	0	0	0	0	0	1	5292	407	15	3		3	EVPL	17	74003904	Silent	SNP	A	TCGA-BR-7703-01A-11D-2053-08	1077070	74003904	7191306	703	38720											
TMC8	147138	broad.mit.edu	37	chr17	76134524	76134525	+	Frame_Shift_Ins	INS	-	-	T													gtgctcctcctgggcctgctINStctggctgcagtgcccctgg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:76134523_76134524C>CT	uc002jup.2	+	12	2009_2010	c.1627_1628C>CT	c.(1627-1629)cttfs	p.L543fs	TMC8_uc002juq.2_Frame_Shift_Ins_p.L320fs|TMC8_uc002jur.1_5'UTR	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	543						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CCTGGGCCTGCTTCTGGCTGCA	0.644													T	76134525	-	T	76134524	7	5	48	1	0	1	1	0	0	0	0	0	15988	1609	56	0	1674	0	TMC8	17	76134524	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	2130620	76134524	5060686	704	38721											
RPTOR	57521	broad.mit.edu	37	chr17	78867514	78867514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtctcgggcagctggtggCgcggtggcgttctcccccgg	18	14	2	0	rs115028103	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:78867514C>T	uc002jyt.1	+	20	3055	c.2250C>T	c.(2248-2250)GGC>GGT	p.G750G	RPTOR_uc010wug.1_Silent_p.G592G	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	750					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						CAGCTGGTGGCGCGGTGGCGT	0.597													T	78867514	C	T	78867514	2	4	48	1	0	0	0	0	0	0	0	1	13665	755	27	1		1	RPTOR	17	78867514	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2732990	78867514	2327696	705	38722											
AATK	9625	broad.mit.edu	37	chr17	79095065	79095065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgcttctgcagagagcGgaaggctggcaccacatccg	12	14	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:79095065G>A	uc010dia.2	-	11	2751	c.2671C>T	c.(2671-2673)CGC>TGC	p.R891C	AATK_uc010dhz.2_RNA	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	891						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGCAGAGAGCGGAAGGCTGGC	0.662													A	79095065	G	A	79095065	3	1	48	1	0	0	0	0	1	0	0	0	26	1116	39	1	1469	1	AATK	17	79095065	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	227551	79095065	2100145	706	38723											
GPS1	2873	broad.mit.edu	37	chr17	80014952	80014952	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcccagagaagggagccaGggggagctgactccagccaa	15	13	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:80014952G>A	uc002kdl.1	+	13	1470	c.1425G>A	c.(1423-1425)CAG>CAA	p.Q475Q	GPS1_uc002kdk.1_Silent_p.Q511Q|GPS1_uc010dij.1_Silent_p.Q510Q|GPS1_uc002kdm.1_Silent_p.Q455Q|GPS1_uc002kdn.1_Silent_p.Q471Q|GPS1_uc002kdo.1_Silent_p.Q474Q|GPS1_uc010wvh.1_Silent_p.Q467Q	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	475					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AAGGGAGCCAGGGGGAGCTGA	0.677													A	80014952	G	A	80014952	2	1	48	1	0	0	0	0	0	0	0	1	6732	991	35	4		4	GPS1	17	80014952	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	919887	80014952	1180258	707	38724											
ELP2	55250	broad.mit.edu	37	chr18	33726216	33726216	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtctgttattgtacaggttCgagtaggtgaagtaggtggg	16	3	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr18:33726216C>T	uc002kzk.1	+	11	1007	c.997C>T	c.(997-999)CGA>TGA	p.R333*	ELP2_uc010xcg.1_Nonsense_Mutation_p.R398*|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Nonsense_Mutation_p.R307*|ELP2_uc010xch.1_Intron|ELP2_uc002kzn.1_Intron|ELP2_uc002kzo.1_Nonsense_Mutation_p.R263*	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	333					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4						TGTACAGGTTCGAGTAGGTGA	0.393													T	33726216	C	T	33726216	4	4	48	1	0	0	0	0	0	1	0	0	5080	876	31	1	1039	1	ELP2	18	33726216	Nonsense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08		33726216	44351032	708	38725											
KIAA1328	57536	broad.mit.edu	37	chr18	34753044	34753044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attacagcacaccacctcccGgtaagcttcagagattcttt	6	13	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr18:34753044G>A	uc002kzz.2	+	9	1545	c.1523G>A	c.(1522-1524)CGG>CAG	p.R508Q	KIAA1328_uc002lab.2_Missense_Mutation_p.R260H|KIAA1328_uc002lac.1_Missense_Mutation_p.R367Q|KIAA1328_uc010dnc.1_RNA	NM_020776	NP_065827	Q86T90	K1328_HUMAN	hypothetical protein LOC57536	508										central_nervous_system(1)	1				COAD - Colon adenocarcinoma(74;0.195)		ACCACCTCCCGGTAAGCTTCA	0.388													A	34753044	G	A	34753044	3	1	48	1	0	0	0	0	1	0	0	0	8225	1130	39	1	1557	1	KIAA1328	18	34753044	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1026828	34753044	43324204	709	38726											
CELF4	56853	broad.mit.edu	37	chr18	35145354	35145354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacctgtccttcagaaccGtaagctcgtagattttgcca	8	11	1	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr18:35145354G>A	uc002lae.2	-	1	647	c.251C>T	c.(250-252)ACG>ATG	p.T84M	CELF4_uc010dnd.1_Missense_Mutation_p.T84M|CELF4_uc002lag.2_Missense_Mutation_p.T84M|CELF4_uc002laf.2_Missense_Mutation_p.T80M|CELF4_uc002lai.2_Missense_Mutation_p.T80M	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	84	RRM 1.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						CTTCAGAACCGTAAGCTCGTA	0.587													A	35145354	G	A	35145354	3	1	48	1	0	0	0	0	1	0	0	0	3218	1145	40	1	1257	1	CELF4	18	35145354	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	392310	35145354	42931894	710	38727											
SETBP1	26040	broad.mit.edu	37	chr18	42531385	42531385	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgttgctctgaaggcaaaaGctcccccagagaccagccct	10	15	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr18:42531385G>T	uc010dni.2	+	4	2376	c.2080G>T	c.(2080-2082)GCT>TCT	p.A694S		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	694						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAAGGCAAAAGCTCCCCCAGA	0.478									Schinzel-Giedion_syndrome				T	42531385	G	T	42531385	3	4	48	1	0	0	0	0	1	0	0	0	14129	971	34	5	2283	5	SETBP1	18	42531385	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	7386031	42531385	35545863	711	38728											
SMAD7	4092	broad.mit.edu	37	chr18	46474795	46474796	+	Frame_Shift_Ins	INS	-	-	G													cgggtatctggagtaaggagINSgggggggagactctgaaatt							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr18:46474794_46474795A>AG	uc002ldg.3	-	1	913_914	c.626_627T>CT	c.(625-627)cctfs	p.P209fs	SMAD7_uc010xde.2_5'UTR|SMAD7_uc021ujr.1_Frame_Shift_Ins_p.P209fs	NM_005904	NP_005895	O15105	SMAD7_HUMAN	Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA.	209	Important for interaction with SMURF2.|Poly-Pro.				BMP signaling pathway|adherens junction assembly|artery morphogenesis|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	I-SMAD binding|activin binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TGGAGTAAGGAGGGGGGGGAGA	0.386													G	46474796	-	G	46474795	7	5	48	1	0	1	1	0	0	0	0	0	14763	1000	35	0	666	0	SMAD7	18	46474795	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	3943410	46474795	31602453	712	38729											
WDR7	23335	broad.mit.edu	37	chr18	54446705	54446705	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgttatgctgccagaCctactgggattggataaatt	10	8	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr18:54446705C>A	uc002lgk.1	+	18	3202	c.2991C>A	c.(2989-2991)GAC>GAA	p.D997E	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.D964E	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	997										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		TGCTGCCAGACCTACTGGGAT	0.423													A	54446705	C	A	54446705	3	1	48	1	0	0	0	0	1	0	0	0	17317	506	18	5	3057	5	WDR7	18	54446705	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	7971910	54446705	23630543	713	38730											
ZCCHC2	54877	broad.mit.edu	37	chr18	60241471	60241471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcagcatatttcttttatGccaacgttacactgtgtcat	5	9	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr18:60241471G>A	uc002lip.3	+	13	2157	c.2157G>A	c.(2155-2157)ATG>ATA	p.M719I	ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Missense_Mutation_p.M189I	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	719					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			lung(1)|prostate(1)	2						TTTCTTTTATGCCAACGTTAC	0.443													A	60241471	G	A	60241471	3	1	48	1	0	0	0	0	1	0	0	0	17584	1319	46	2	2207	2	ZCCHC2	18	60241471	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	5794766	60241471	17835777	714	38731											
SERPINB8	5271	broad.mit.edu	37	chr18	61654276	61654276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcttttgacgaagccaagGcagacttttctggaatgtca	10	8	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr18:61654276G>A	uc002ljv.2	+	7	1058	c.889G>A	c.(889-891)GCA>ACA	p.A297T	SERPINB8_uc002lju.2_Missense_Mutation_p.A297T|SERPINB8_uc010xex.1_Missense_Mutation_p.A115T	NM_198833	NP_942130	P50452	SPB8_HUMAN	serine (or cysteine) proteinase inhibitor, clade	297					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			skin(1)	1		Esophageal squamous(42;0.129)				CGAAGCCAAGGCAGACTTTTC	0.488													A	61654276	G	A	61654276	3	1	48	1	0	0	0	0	1	0	0	0	14107	1203	42	2	924	2	SERPINB8	18	61654276	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1412805	61654276	16422972	715	38732											
TSHZ1	10194	broad.mit.edu	37	chr18	73000281	73000281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcctgttttcttttgcaaCgattgtgcctctcagttcag	7	11	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr18:73000281C>T	uc002lly.2	+	2	3347	c.2784C>T	c.(2782-2784)AAC>AAT	p.N928N		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	973	C2H2-type 4.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TCTTTTGCAACGATTGTGCCT	0.488													T	73000281	C	T	73000281	2	4	48	1	0	0	0	0	0	0	0	1	16620	535	19	1		1	TSHZ1	18	73000281	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	11346005	73000281	5076967	716	38733											
ADNP2	22850	broad.mit.edu	37	chr18	77893766	77893766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgtgataagtttcacatGtctaaaatgtaacttttcaa	6	6	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr18:77893766G>A	uc002lnw.2	+	4	925	c.470G>A	c.(469-471)TGT>TAT	p.C157Y		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	157					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AGTTTCACATGTCTAAAATGT	0.378													A	77893766	G	A	77893766	3	1	48	1	0	0	0	0	1	0	0	0	324	1377	48	4	480	4	ADNP2	18	77893766	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	4893485	77893766	183482	717	38734											
CDC34	997	broad.mit.edu	37	chr19	537097	537097	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacgcctccgtgatgtacagGaagtggaaagagagcaaggg	16	7	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:537097G>A	uc002lov.2	+	4	646	c.447G>A	c.(445-447)AGG>AGA	p.R149R		NM_004359	NP_004350	P49427	UB2R1_HUMAN	ubiquitin-conjugating enzyme Cdc34	149				R->A: Inhibits polyubiquitination of NFKBIA; when associated with A-147; A- 147; A-150 and A-153.	DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity				0		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATGTACAGGAAGTGGAAAG	0.617													A	537097	G	A	537097	2	1	48	1	0	0	0	0	0	0	0	1	3067	1165	41	4		4	CDC34	19	537097	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08		537097	58591886	718	38735											
APC2	10297	broad.mit.edu	37	chr19	1460308	1460308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacctcacctttggggacGttgccaacaaggtgcccggg	12	14	1	0	rs150518571	by1000genomes	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:1460308G>A	uc002lsr.1	+	11	1640	c.1432G>A	c.(1432-1434)GTT>ATT	p.V478I	APC2_uc002lss.1_Missense_Mutation_p.V60I|APC2_uc002lst.1_Missense_Mutation_p.V478I|APC2_uc002lsu.1_Missense_Mutation_p.V477I|uc002lsv.2_5'Flank	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	478					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTGGGGACGTTGCCAACAA	0.562													A	1460308	G	A	1460308	3	1	48	1	0	0	0	0	1	0	0	0	764	1145	40	1	1470	1	APC2	19	1460308	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	923211	1460308	57668675	719	38736											
APC2	10297	broad.mit.edu	37	chr19	1466430	1466430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggttcccgagaagctgGcggctgccccgctgtctgtg	15	13	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:1466430G>A	uc002lsr.1	+	15	3338	c.3130G>A	c.(3130-3132)GCG>ACG	p.A1044T	APC2_uc002lss.1_Missense_Mutation_p.A626T|APC2_uc002lst.1_Missense_Mutation_p.A1044T|APC2_uc002lsu.1_Missense_Mutation_p.A1043T|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1044					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGAAGCTGGCGGCTGCCCC	0.692													A	1466430	G	A	1466430	3	1	48	1	0	0	0	0	1	0	0	0	764	1203	42	2	3184	2	APC2	19	1466430	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	6122	1466430	57662553	720	38737											
TCF3	6929	broad.mit.edu	37	chr19	1615385	1615385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtgcagttggcacatgCgccccagctccttaaaggcc	12	13	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:1615385C>T	uc002ltr.2	-	18	1788	c.1721G>A	c.(1720-1722)CGC>CAC	p.R574H	TCF3_uc002ltn.2_Intron|TCF3_uc002lto.2_Missense_Mutation_p.R335H|TCF3_uc002ltt.3_Intron|TCF3_uc002ltq.2_Missense_Mutation_p.R578H|TCF3_uc002lts.1_Intron	NM_003200	NP_003191	P15923	TFE2_HUMAN	transcription factor 3 isoform E12	574	Helix-loop-helix motif.				B cell lineage commitment|B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1)	7		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGGCACATGCGCCCCAGCTC	0.627			T	PBX1|HLF|TFPT	pre B-ALL								T	1615385	C	T	1615385	3	4	48	1	0	0	0	0	1	0	0	0	15691	768	27	1	482	1	TCF3	19	1615385	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	148955	1615385	57513598	721	38738											
SLC39A3	29985	broad.mit.edu	37	chr19	2733057	2733057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgctgatgcccagggccaCggccaccagtgtctcgtgga	13	14	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:2733057C>T	uc002lwg.2	-	3	891	c.637G>A	c.(637-639)GTG>ATG	p.V213M	SLC39A3_uc010xgy.1_Missense_Mutation_p.V213M	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter),	213	Helical; (Potential).					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGGGCCACGGCCACCAGT	0.697													T	2733057	C	T	2733057	3	4	48	1	0	0	0	0	1	0	0	0	14619	536	19	1	311	1	SLC39A3	19	2733057	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1117672	2733057	56395926	722	38739											
TLE2	7089	broad.mit.edu	37	chr19	3013795	3013796	+	Frame_Shift_Ins	INS	-	-	G													cagggggtggtagccgggctINSggggggctctgagggttggt							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:3013795_3013796insG	uc002lww.2	-	11	1007_1008	c.744_745insC	c.(742-747)CCCAGCfs	p.P248fs	TLE2_uc010xhb.1_5'UTR|TLE2_uc010dth.2_Frame_Shift_Ins_p.P249fs|TLE2_uc010xhc.1_Frame_Shift_Ins_p.P126fs|TLE2_uc010dti.2_Frame_Shift_Ins_p.P262fs|TLE2_uc010xhd.1_Frame_Shift_Ins_p.P156fs	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	248_249	CCN domain.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTAGCCGGGCTGGGGGGCTCTG	0.609													G	3013796	-	G	3013795	7	5	48	1	0	1	1	0	0	0	0	0	15936	1580	55	0	1526	0	TLE2	19	3013795	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	280738	3013795	56115188	723	38740	127	2									
TLE2	7089	broad.mit.edu	37	chr19	3013796	3013797	+	Frame_Shift_Ins	INS	-	-	G													agggggtggtagccgggctgINSgggggctctgagggttggtc							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:3013795_3013796T>TG	uc010dth.3	-	10	1010_1011	c.747_748A>CA	c.(745-750)cccagcfs	p.P249fs	TLE2_uc010xhb.2_5'UTR|TLE2_uc002lww.3_Frame_Shift_Ins_p.P248fs|TLE2_uc010xhc.2_Frame_Shift_Ins_p.P126fs|TLE2_uc010dti.3_Frame_Shift_Ins_p.P262fs|TLE2_uc010xhd.1_Frame_Shift_Ins_p.P156fs	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	248	CCN domain.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTAGCCGGGCTGGGGGGCTCTG	0.609													G	3013797	-	G	3013796	7	5	48	1	0	1	1	0	0	0	0	0	15936	1335	47	0	1527	0	TLE2	19	3013796	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	1	3013796	56115187	724	38741	127	2									
GIPC3	126326	broad.mit.edu	37	chr19	3589552	3589552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgccacagtggaggaagCggtgagtgaaggggaggggc	22	6	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:3589552C>T	uc002lyd.3	+	4	731	c.704C>T	c.(703-705)GCG>GTG	p.A235V		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	235										breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		gtggaggaagcggtgagtgaa	0.279													T	3589552	C	T	3589552	3	4	48	1	0	0	0	0	1	0	0	0	6394	782	27	1	718	1	GIPC3	19	3589552	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	575756	3589552	55539431	725	38742											
TMIGD2	126259	broad.mit.edu	37	chr19	4292666	4292666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttggtctaggagagaccCtgaccatagagacggggtgg	17	8	1	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:4292666C>T	uc002lzx.1	-	5	825	c.779G>A	c.(778-780)AGG>AAG	p.R260K	TMIGD2_uc010dtv.1_Missense_Mutation_p.R256K	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain	260	Pro-rich.|Cytoplasmic (Potential).					integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGAGACCCTGACCATAGA	0.507													T	4292666	C	T	4292666	3	4	48	1	0	0	0	0	1	0	0	0	16228	681	24	4	73	4	TMIGD2	19	4292666	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	703114	4292666	54836317	726	38743											
SEMA6B	10501	broad.mit.edu	37	chr19	4557220	4557220	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggggctccagctctacGcggtagaggttgtccctggg	18	10	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:4557220G>A	uc010duc.1	-	3	299	c.261C>T	c.(259-261)CGC>CGT	p.R87R	SEMA6B_uc010dud.2_Silent_p.R87R|SEMA6B_uc010xih.1_Silent_p.R87R	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	87	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCTCTACGCGGTAGAGGT	0.662													A	4557220	G	A	4557220	2	1	48	1	0	0	0	0	0	0	0	1	14040	1074	38	1		1	SEMA6B	19	4557220	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	264554	4557220	54571763	727	38744											
PRR22	163154	broad.mit.edu	37	chr19	5783938	5783938	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgcctggggcggaggggAcccccgctggccccccgctg	17	17	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:5783938A>G	uc002mdb.1	-	1	673	c.314T>C	c.(313-315)GTC>GCC	p.V105A	PRR22_uc010xiv.1_Missense_Mutation_p.V107A	NM_153359	NP_699190	Q8IZ63	PRR22_HUMAN	proline rich 22 isoform 2	105	Pro-rich.										0						GGCGGAGGGGACCCCCGCTGG	0.701													G	5783938	A	G	5783938	3	3	48	1	0	0	0	0	1	0	0	0	12593	275	10	3	952	3	PRR22	19	5783938	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	1226718	5783938	53345045	728	38745											
ACSBG2	81616	broad.mit.edu	37	chr19	6147615	6147615	+	Frame_Shift_Del	DEL	A	A	-													ccctcgcatccaagaatggcAaaaagtgggaaattctgaat							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:6147614_6147614CA>C	uc002mef.1	+	2	452	c.225_225CA>C	c.(223-225)ggcfs	p.G75fs	ACSBG2_uc002mee.1_5'UTR|ACSBG2_uc002meg.1_Frame_Shift_Del_p.G75fs|ACSBG2_uc002meh.1_Frame_Shift_Del_p.G75fs|ACSBG2_uc002mei.1_Frame_Shift_Del_p.G25fs|ACSBG2_uc010xiz.1_Frame_Shift_Del_p.G75fs	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	75					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAAGAATGGCAAAAAGTGGG	0.448													-	6147615	A	-	6147615	7	5	48	1	0	1	0	1	0	0	0	0	174	131	5	0	232	0	ACSBG2	19	6147615	Frame_Shift_Del	DEL	A	TCGA-BR-7703-01A-11D-2053-08	363677	6147615	52981368	729	38746											
TUBB4	10382	broad.mit.edu	37	chr19	6496189	6496189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccagctctgcgccctcCgtgtagtgcccctttgccca	8	19	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:6496189C>T	uc002mfg.1	-	4	428	c.321G>A	c.(319-321)ACG>ACA	p.T107T	TUBB4_uc002mff.1_Silent_p.T35T	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	107					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		CTGCGCCCTCCGTGTAGTGCC	0.647													T	6496189	C	T	6496189	2	4	48	1	0	0	0	0	0	0	0	1	16755	639	23	1		1	TUBB4	19	6496189	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	348574	6496189	52632794	730	38747											
SNAPC2	6618	broad.mit.edu	37	chr19	7987008	7987008	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggaaagcctttgctccTgagcgcccctggaggacagg	14	13	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:7987008T>C	uc002miw.1	+	4	484	c.461T>C	c.(460-462)CTG>CCG	p.L154P	SNAPC2_uc002mix.1_RNA	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex,	154					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity				0						CCTTTGCTCCTGAGCGCCCCT	0.672													C	7987008	T	C	7987008	3	2	48	1	0	0	0	0	1	0	0	0	14835	1580	55	3	475	3	SNAPC2	19	7987008	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	1490819	7987008	51141975	731	38748											
LASS4	79603	broad.mit.edu	37	chr19	8326868	8326868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagactccagtgaggaggcgGcggcggcccaggaacctctg	16	13	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:8326868G>A	uc002mjg.2	+	12	1380	c.1060G>A	c.(1060-1062)GCG>ACG	p.A354T	LASS4_uc002mjh.2_Missense_Mutation_p.A303T|LASS4_uc002mji.2_Missense_Mutation_p.A190T|LASS4_uc010dvz.2_Missense_Mutation_p.A266T	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN	LAG1 homolog, ceramide synthase 4	354						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			ovary(1)	1						TGAGGAGGCGGCGGCGGCCCA	0.637													A	8326868	G	A	8326868	3	1	48	1	0	0	0	0	1	0	0	0	8641	1203	42	2	1098	2	LASS4	19	8326868	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	339860	8326868	50802115	732	38749											
MUC16	94025	broad.mit.edu	37	chr19	9067365	9067365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgttcttctagaagagGcaacttctgtcctagaggtc	11	8	3	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:9067365G>A	uc002mkp.2	-	3	20285	c.20081C>T	c.(20080-20082)GCC>GTC	p.A6694V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6696	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCTAGAAGAGGCAACTTCTGT	0.522													A	9067365	G	A	9067365	3	1	48	1	0	0	0	0	1	0	0	0	9973	1203	42	2	23770	2	MUC16	19	9067365	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	740497	9067365	50061618	733	38750											
ZNF560	147741	broad.mit.edu	37	chr19	9578460	9578460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgttcaagaaagcctgacGgcacagtgaaggttttgcca	11	9	1	3	rs146030501	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:9578460G>A	uc002mlp.1	-	10	1373	c.1163C>T	c.(1162-1164)CCG>CTG	p.P388L	ZNF560_uc010dwr.1_Missense_Mutation_p.P282L	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	388	C2H2-type 3.				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						AAAGCCTGACGGCACAGTGAA	0.423													A	9578460	G	A	9578460	3	1	48	1	0	0	0	0	1	0	0	0	17988	1116	39	1	1213	1	ZNF560	19	9578460	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	511095	9578460	49550523	734	38751											
COL5A3	50509	broad.mit.edu	37	chr19	10081693	10081693	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcccttctcccctggggaAccatctatgccctgcatggg	9	16	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:10081693A>G	uc002mmq.1	-	53	3926	c.3840T>C	c.(3838-3840)GGT>GGC	p.G1280G		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1280	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			CCCCTGGGGAACCATCTATGC	0.577													G	10081693	A	G	10081693	2	3	48	1	0	0	0	0	0	0	0	1	3698	30	2	3		3	COL5A3	19	10081693	Silent	SNP	A	TCGA-BR-7703-01A-11D-2053-08	503233	10081693	49047290	735	38752											
CDKN2D	1032	broad.mit.edu	37	chr19	10677827	10677827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggtgtgagacccctggcGtccctgcgatggagatcaga	15	10	1	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:10677827G>A	uc002mpa.2	-	2	710	c.408C>T	c.(406-408)GAC>GAT	p.D136D	KRI1_uc002mox.1_5'Flank|KRI1_uc002moy.1_5'Flank|CDKN2D_uc002mpb.2_Silent_p.D136D	NM_001800	NP_001791	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D	136					anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding				0			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GACCCCTGGCGTCCCTGCGAT	0.617									Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System				A	10677827	G	A	10677827	2	1	48	1	0	0	0	0	0	0	0	1	3166	1136	40	1		1	CDKN2D	19	10677827	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	596134	10677827	48451156	736	38753											
BEST2	54831	broad.mit.edu	37	chr19	12866954	12866954	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgtgtttgcacccgtaGgtgtccatgctggcagtgga	14	10	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:12866954G>T	uc002mux.2	+	8	949	c.949_splice	c.e8-1	p.V317_splice		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	vitelliform macular dystrophy 2-like 1						membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			ovary(1)|pancreas(1)	2						TGCACCCGTAGGTGTCCATGC	0.632													T	12866954	G	T	12866954	5	4	48	1	0	0	0	0	0	0	1	0	1405	1014	35	5	978	5	BEST2	19	12866954	Splice_Site	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2189127	12866954	46262029	737	38754											
HOOK2	29911	broad.mit.edu	37	chr19	12874211	12874211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgggcatgggcaggcgccCgctcctccccagctcgctgc	13	18	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:12874211C>T	uc002muy.2	-	23	2216	c.2045G>A	c.(2044-2046)CGG>CAG	p.R682Q	HOOK2_uc010xmq.1_Missense_Mutation_p.R87Q|HOOK2_uc002muz.2_Missense_Mutation_p.R680Q	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	682	Sufficient for interaction with CEP110.|Required for localization to the centrosome and induction of aggresome formation.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			ovary(1)|breast(1)|skin(1)	3						GGCAGGCGCCCGCTCCTCCCC	0.642													T	12874211	C	T	12874211	3	4	48	1	0	0	0	0	1	0	0	0	7283	652	23	1	118	1	HOOK2	19	12874211	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	7257	12874211	46254772	738	38755											
CALR3	125972	broad.mit.edu	37	chr19	16593516	16593516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggcttctggagcatcggCgctggccagtccccatccag	15	14	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:16593516C>T	uc002ned.2	-	6	822	c.759G>A	c.(757-759)GCG>GCA	p.A253A	MED26_uc002nee.2_RNA	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	calreticulin 3 precursor	253	3 X approximate repeats.|P-domain.|2-1.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding				0						GGAGCATCGGCGCTGGCCAGT	0.597													T	16593516	C	T	16593516	2	4	48	1	0	0	0	0	0	0	0	1	2593	755	27	1		1	CALR3	19	16593516	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	3719305	16593516	42535467	739	38756											
KLHL26	55295	broad.mit.edu	37	chr19	18780032	18780032	+	Frame_Shift_Del	DEL	C	C	-													cctgcgcccccgtcctgctgCcccgggccgggaccaggagg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:18780031_18780031GC>G	uc002njz.1	+	2	1851	c.1824_1824GC>G	c.(1822-1824)ctgfs	p.L608fs		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA.	608										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCGTCCTGCTGCCCCGGGCCG	0.677													-	18780032	C	-	18780032	7	5	48	1	0	1	0	1	0	0	0	0	8381	739	26	0	1835	0	KLHL26	19	18780032	Frame_Shift_Del	DEL	C	TCGA-BR-7703-01A-11D-2053-08	2186516	18780032	40348951	740	38757											
ZNF536	9745	broad.mit.edu	37	chr19	30935847	30935847	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggcaagggcgagctgcccAtgaaggagaaggaagcgctg	17	8	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:30935847A>G	uc002nsu.1	+	2	1516	c.1378A>G	c.(1378-1380)ATG>GTG	p.M460V	ZNF536_uc010edd.1_Missense_Mutation_p.M460V	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CGAGCTGCCCATGAAGGAGAA	0.642													G	30935847	A	G	30935847	3	3	48	1	0	0	0	0	1	0	0	0	17971	217	8	3	1380	3	ZNF536	19	30935847	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	12155815	30935847	28193136	741	38758											
TSHZ3	57616	broad.mit.edu	37	chr19	31768896	31768896	+	Frame_Shift_Del	DEL	G	G	-													tgaaagtttgtcttgggcatGggggacgtctggctgctggg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:31768896delG	uc002nsy.3	-	2	1868	c.1803delC	c.(1801-1803)CCCfs	p.P601fs		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	601					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					TCTTGGGCATGGGGGACGTCT	0.547													-	31768896	G	-	31768896	7	5	48	1	0	1	0	1	0	0	0	0	16622	1335	47	0	1446	0	TSHZ3	19	31768896	Frame_Shift_Del	DEL	G	TCGA-BR-7703-01A-11D-2053-08	833049	31768896	27360087	742	38759											
CHST8	64377	broad.mit.edu	37	chr19	34263386	34263386	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaccgtccactatggcagCgctctcaagcgcctggacac	9	16	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:34263386C>T	uc002nus.3	+	5	1198	c.693C>T	c.(691-693)AGC>AGT	p.S231S	CHST8_uc002nut.3_Silent_p.S231S|CHST8_uc002nuu.2_Silent_p.S231S	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	231	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					ACTATGGCAGCGCTCTCAAGC	0.632													T	34263386	C	T	34263386	2	4	48	1	0	0	0	0	0	0	0	1	3410	767	27	1		1	CHST8	19	34263386	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2494490	34263386	24865597	743	38760											
KIAA0355	9710	broad.mit.edu	37	chr19	34832706	34832706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggctttctcatggagaggCgtgagaacttcctgcatgga	13	8	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:34832706C>T	uc002nvd.3	+	10	2726	c.1867C>T	c.(1867-1869)CGT>TGT	p.R623C		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	623										ovary(1)	1	Esophageal squamous(110;0.162)					CATGGAGAGGCGTGAGAACTT	0.458													T	34832706	C	T	34832706	3	4	48	1	0	0	0	0	1	0	0	0	8170	768	27	1	1901	1	KIAA0355	19	34832706	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	569320	34832706	24296277	744	38761											
CD22	933	broad.mit.edu	37	chr19	35831914	35831914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgaatggaaaccccatggCgcctgggaggagccatcgct	13	11	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:35831914C>T	uc010edt.2	+	7	1457	c.1380C>T	c.(1378-1380)GGC>GGT	p.G460G	CD22_uc010xst.1_Silent_p.G288G|CD22_uc010edu.2_Silent_p.G372G|CD22_uc010edv.2_Silent_p.G460G|CD22_uc002nzb.3_Silent_p.G283G|CD22_uc010edx.2_RNA	NM_001771	NP_001762	P20273	CD22_HUMAN	CD22 molecule precursor	460	Extracellular (Potential).|Ig-like C2-type 4.				cell adhesion		protein binding|sugar binding			ovary(5)|lung(3)|breast(1)	9	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AACCCCATGGCGCCTGGGAGG	0.537													T	35831914	C	T	35831914	2	4	48	1	0	0	0	0	0	0	0	1	2985	755	27	1		1	CD22	19	35831914	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	999208	35831914	23297069	745	38762											
KRTDAP	388533	broad.mit.edu	37	chr19	35979569	35979569	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagcgtactcacagatcGcaatttgtcgatgttcagga	11	8	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:35979569G>A	uc002nzh.2	-	3	175	c.163C>T	c.(163-165)CGA>TGA	p.R55*		NM_207392	NP_997275	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	55					cell differentiation	extracellular region					0	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTCACAGATCGCAATTTGTCG	0.507													A	35979569	G	A	35979569	4	1	48	1	0	0	0	0	0	1	0	0	8580	1095	38	1	152	1	KRTDAP	19	35979569	Nonsense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	147655	35979569	23149414	746	38763											
ZNF566	84924	broad.mit.edu	37	chr19	36940763	36940763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctttcttaaactgccgatTacattcccaatcatctctga	3	12	4	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:36940763T>C	uc002oea.3	-	5	455	c.373A>G	c.(373-375)AAT>GAT	p.N125D	ZNF566_uc010xte.1_Missense_Mutation_p.N125D|ZNF566_uc010xtf.1_Missense_Mutation_p.N126D|ZNF566_uc002oeb.3_Missense_Mutation_p.N125D|ZNF566_uc002oec.3_Missense_Mutation_p.N21D|ZNF566_uc010xtg.1_Missense_Mutation_p.N21D	NM_032838	NP_116227	Q969W8	ZN566_HUMAN	zinc finger protein 566 isoform 1	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)					AACTGCCGATTACATTCCCAA	0.403													C	36940763	T	C	36940763	3	2	48	1	0	0	0	0	1	0	0	0	17994	1754	61	3	887	3	ZNF566	19	36940763	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	961194	36940763	22188220	747	38764											
HKR1	284459	broad.mit.edu	37	chr19	37854373	37854373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttatgtgcagggagtgtgGcagaaggtttcggcagaagc	16	5	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:37854373G>A	uc002ogb.2	+	6	1945	c.1676G>A	c.(1675-1677)GGC>GAC	p.G559D	HKR1_uc002ofx.2_Missense_Mutation_p.G275D|HKR1_uc002ofy.2_Missense_Mutation_p.G275D|HKR1_uc002oga.2_Missense_Mutation_p.G541D|HKR1_uc010xto.1_Missense_Mutation_p.G541D|HKR1_uc002ogc.2_Missense_Mutation_p.G540D|HKR1_uc010xtp.1_Missense_Mutation_p.G498D|HKR1_uc002ogd.2_Missense_Mutation_p.G498D	NM_181786	NP_861451	P10072	HKR1_HUMAN	GLI-Kruppel family member HKR1	559	C2H2-type 10.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGGAGTGTGGCAGAAGGTTT	0.502													A	37854373	G	A	37854373	3	1	48	1	0	0	0	0	1	0	0	0	7194	1203	42	2	1690	2	HKR1	19	37854373	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	913610	37854373	21274610	748	38765											
GGN	199720	broad.mit.edu	37	chr19	38876233	38876233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccaccactgctgtcagGcacggtagctgtagctcgtt	10	15	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:38876233G>A	uc002oij.1	-	3	1804	c.1669C>T	c.(1669-1671)CCT>TCT	p.P557S	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Intron	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	557	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGCTGTCAGGCACGGTAGCT	0.672													A	38876233	G	A	38876233	3	1	48	1	0	0	0	0	1	0	0	0	6358	1203	42	2	297	2	GGN	19	38876233	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1021860	38876233	20252750	749	38766											
ZNF780B	163131	broad.mit.edu	37	chr19	40540359	40540359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagggtttctcacctgtaCaagtttttgatgcagagaaa	9	7	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:40540359C>T	uc002omu.2	-	5	2472	c.2407G>A	c.(2407-2409)GTA>ATA	p.V803I	ZNF780B_uc002omv.2_Missense_Mutation_p.V655I	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	803	C2H2-type 23; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTCACCTGTACAAGTTTTTGA	0.403													T	40540359	C	T	40540359	3	4	48	1	0	0	0	0	1	0	0	0	18150	478	17	4	98	4	ZNF780B	19	40540359	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1664126	40540359	18588624	750	38767											
AKT2	208	broad.mit.edu	37	chr19	40762934	40762934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcttcagcaggaagtacCgtggcctccaggtcttgatg	12	12	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:40762934C>T	uc002onf.2	-	3	336	c.74G>A	c.(73-75)CGG>CAG	p.R25Q	AKT2_uc010egs.2_Missense_Mutation_p.R25Q|AKT2_uc010egt.2_5'UTR|AKT2_uc010xvj.1_5'UTR|AKT2_uc010egu.1_5'UTR|AKT2_uc010xvk.1_Missense_Mutation_p.R25Q	NM_001626	NP_001617	P31751	AKT2_HUMAN	AKT2 kinase	25	PH.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2			Lung(22;0.000499)			CAGGAAGTACCGTGGCCTCCA	0.562			A		ovarian|pancreatic 								T	40762934	C	T	40762934	3	4	48	1	0	0	0	0	1	0	0	0	480	652	23	1	1419	1	AKT2	19	40762934	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	222575	40762934	18366049	751	38768											
PRX	57716	broad.mit.edu	37	chr19	40900690	40900690	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggcagagacagggtcAcctggggcacctgaaccctg	13	14	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:40900690A>G	uc002onr.2	-	7	3838	c.3569T>C	c.(3568-3570)GTG>GCG	p.V1190A	PRX_uc002onq.2_Missense_Mutation_p.V1051A|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1190	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGACAGGGTCACCTGGGGCAC	0.632													G	40900690	A	G	40900690	3	3	48	1	0	0	0	0	1	0	0	0	12642	159	6	3	820	3	PRX	19	40900690	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	137756	40900690	18228293	752	38769											
PSG2	5670	broad.mit.edu	37	chr19	43579693	43579693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccactggtagcttgtgtcCggagtctcaggatcacaggt	12	11	2	0	rs146429644		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:43579693C>T	uc002ovr.2	-	3	615	c.522G>A	c.(520-522)CCG>CCA	p.P174P	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Silent_p.P174P|PSG2_uc010eiq.1_Silent_p.P174P|PSG2_uc002ovs.3_Silent_p.P174P|PSG2_uc002ovt.3_Silent_p.P174P	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	174	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)				AGCTTGTGTCCGGAGTCTCAG	0.517													T	43579693	C	T	43579693	2	4	48	1	0	0	0	0	0	0	0	1	12655	639	23	1		1	PSG2	19	43579693	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2679003	43579693	15549290	753	38770											
IRGQ	126298	broad.mit.edu	37	chr19	44097037	44097037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttctcccagacactccGgatcctcgccctcgccgtct	7	20	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:44097037G>A	uc002oww.2	-	2	1131	c.1013C>T	c.(1012-1014)CCG>CTG	p.P338L	IRGQ_uc010eiv.2_Missense_Mutation_p.P338L	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	338							protein binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0199)				CAGACACTCCGGATCCTCGCC	0.617													A	44097037	G	A	44097037	3	1	48	1	0	0	0	0	1	0	0	0	7839	1116	39	1	862	1	IRGQ	19	44097037	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	517344	44097037	15031946	754	38771											
RSPH6A	81492	broad.mit.edu	37	chr19	46313976	46313976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcggggtcgtcccgcagcGtgtccagcttggggtggaac	16	12	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:46313976G>A	uc002pdm.2	-	2	916	c.773C>T	c.(772-774)ACG>ATG	p.T258M	RSPH6A_uc002pdl.2_Translation_Start_Site	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	258						intracellular				ovary(1)|central_nervous_system(1)	2						GTCCCGCAGCGTGTCCAGCTT	0.627													A	46313976	G	A	46313976	3	1	48	1	0	0	0	0	1	0	0	0	13707	1145	40	1	1400	1	RSPH6A	19	46313976	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2216939	46313976	12815007	755	38772											
PNMAL2	57469	broad.mit.edu	37	chr19	46997563	46997563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctcttccaccttcacgCgggtcccgttagtgtccttg	9	17	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:46997563C>T	uc002pes.2	-	1	1607	c.1160G>A	c.(1159-1161)CGC>CAC	p.R387H	uc002peu.1_5'Flank	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	387										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CACCTTCACGCGGGTCCCGTT	0.647													T	46997563	C	T	46997563	3	4	48	1	0	0	0	0	1	0	0	0	12158	768	27	1	751	1	PNMAL2	19	46997563	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	683587	46997563	12131420	756	38773											
LIG1	3978	broad.mit.edu	37	chr19	48646810	48646810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattagttaccgagcagacaCctcctcgatcttctcaaacg	6	14	2	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:48646810C>T	uc002pia.1	-	11	1024	c.904G>A	c.(904-906)GTG>ATG	p.V302M	LIG1_uc010xze.1_Translation_Start_Site|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.V234M|LIG1_uc010xzg.1_Missense_Mutation_p.V271M|LIG1_uc010xzh.1_RNA	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	302					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CGAGCAGACACCTCCTCGATC	0.587								NER					T	48646810	C	T	48646810	3	4	48	1	0	0	0	0	1	0	0	0	8781	507	18	4	1927	4	LIG1	19	48646810	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1649247	48646810	10482173	757	38774											
GRIN2D	2906	broad.mit.edu	37	chr19	48919394	48919394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcagcaatggcacggtgTccccctcggccttcctcggt	12	17	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:48919394T>C	uc002pjc.3	+	7	1805	c.1717T>C	c.(1717-1719)TCC>CCC	p.S573P		NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	573	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	TGGCACGGTGTCCCCCTCGGC	0.577													C	48919394	T	C	48919394	3	2	48	1	0	0	0	0	1	0	0	0	6782	1667	58	3	1739	3	GRIN2D	19	48919394	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	272584	48919394	10209589	758	38775											
TULP2	7288	broad.mit.edu	37	chr19	49391323	49391323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcccgggagcgctggccGcagcacgtaggcttccatgt	16	13	0	0	rs17847566		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:49391323G>A	uc002pkz.2	-	8	983	c.832C>T	c.(832-834)CGG>TGG	p.R278W		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	278					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		AGCGCTGGCCGCAGCACGTAG	0.642													A	49391323	G	A	49391323	3	1	48	1	0	0	0	0	1	0	0	0	16771	1086	38	1	754	1	TULP2	19	49391323	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	471929	49391323	9737660	759	38776											
PPFIA3	8541	broad.mit.edu	37	chr19	49632105	49632105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatgccgtgtgcttgcagCtgctcctggaacacctggag	12	14	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:49632105C>T	uc002pmr.2	+	4	675	c.343C>T	c.(343-345)CTG>TTG	p.L115L	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Silent_p.L39L|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_5'UTR	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	115	Potential.					cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GTGCTTGCAGCTGCTCCTGGA	0.602													T	49632105	C	T	49632105	2	4	48	1	0	0	0	0	0	0	0	1	12311	811	28	2		2	PPFIA3	19	49632105	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	240782	49632105	9496878	760	38777											
TEAD2	8463	broad.mit.edu	37	chr19	49863251	49863251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagccccctcactgccgcCggtaccctcctcactgcctt	6	23	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:49863251C>T	uc002pnj.2	-	2	173	c.82G>A	c.(82-84)GGC>AGC	p.G28S	TEAD2_uc002png.2_Missense_Mutation_p.G28S|TEAD2_uc002pnh.2_Missense_Mutation_p.G28S|TEAD2_uc002pni.2_Missense_Mutation_p.G28S|TEAD2_uc010yao.1_Intron|TEAD2_uc010emw.2_Missense_Mutation_p.G28S	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	28					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TCACTGCCGCCGGTACCCTCC	0.697													T	49863251	C	T	49863251	3	4	48	1	0	0	0	0	1	0	0	0	15736	652	23	1	1305	1	TEAD2	19	49863251	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	231146	49863251	9265732	761	38778											
SLC17A7	57030	broad.mit.edu	37	chr19	49934335	49934335	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgacagtgtgcccacgccGttggagatgcccatgaggat	13	13	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:49934335G>A	uc002pnp.2	-	11	1498	c.1326C>T	c.(1324-1326)AAC>AAT	p.N442N	SLC17A7_uc002pno.2_Silent_p.N104N	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	442	Helical; (Potential).				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			ovary(1)|pancreas(1)|skin(1)	3		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TGCCCACGCCGTTGGAGATGC	0.622													A	49934335	G	A	49934335	2	1	48	1	0	0	0	0	0	0	0	1	14422	1136	40	1		1	SLC17A7	19	49934335	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	71084	49934335	9194648	762	38779											
TSKS	60385	broad.mit.edu	37	chr19	50250722	50250722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaccgggtcaccttccagCagttctcctgggtcagacac	10	15	3	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:50250722C>T	uc002ppm.2	-	5	598	c.587G>A	c.(586-588)TGC>TAC	p.C196Y		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	196							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CACCTTCCAGCAGTTCTCCTG	0.582													T	50250722	C	T	50250722	3	4	48	1	0	0	0	0	1	0	0	0	16623	710	25	2	1219	2	TSKS	19	50250722	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	316387	50250722	8878261	763	38780											
C19orf41	126123	broad.mit.edu	37	chr19	50666287	50666287	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccatgcccatcagcacGgccccggcgcgcgcctgcag	11	21	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:50666287G>A	uc002prp.1	-	1	252	c.165C>T	c.(163-165)GCC>GCT	p.A55A		NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN	hypothetical protein LOC126123 precursor	55	Extracellular (Potential).					integral to membrane					0		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)		CCATCAGCACGGCCCCGGCGC	0.667													A	50666287	G	A	50666287	2	1	48	1	0	0	0	0	0	0	0	1	1924	1103	39	1		1	C19orf41	19	50666287	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	415565	50666287	8462696	764	38781											
C19orf63	284361	broad.mit.edu	37	chr19	50983973	50983973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggacgtggacctggagCtgttcaacacctcggtgcag	15	10	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:50983973C>T	uc002psl.2	+	5	604	c.538C>T	c.(538-540)CTG>TTG	p.L180L	C19orf63_uc002psj.2_Silent_p.L180L|C19orf63_uc002psk.2_Silent_p.L180L	NM_206538	NP_996261	Q5UCC4	INM02_HUMAN	hematopoietic signal peptide-containing isoform	180	Extracellular (Potential).					extracellular region|integral to membrane					0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00733)|GBM - Glioblastoma multiforme(134;0.0252)		GGACCTGGAGCTGTTCAACAC	0.711													T	50983973	C	T	50983973	2	4	48	1	0	0	0	0	0	0	0	1	1945	796	28	2		2	C19orf63	19	50983973	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	317686	50983973	8145010	765	38782											
SYT3	84258	broad.mit.edu	37	chr19	51140615	51140615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggacccgcgcacagaggtcCgagaccaggatgagtgcccg	15	14	0	3	rs143593640		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:51140615C>T	uc002pst.2	-	1	688	c.54G>A	c.(52-54)TCG>TCA	p.S18S	SYT3_uc002psv.2_Silent_p.S18S|SYT3_uc010ycd.1_Silent_p.S18S	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	18	Vesicular (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CACAGAGGTCCGAGACCAGGA	0.632													T	51140615	C	T	51140615	2	4	48	1	0	0	0	0	0	0	0	1	15472	639	23	1		1	SYT3	19	51140615	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	156642	51140615	7988368	766	38783											
CLEC11A	6320	broad.mit.edu	37	chr19	51228606	51228606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgccgcatccgctcagccCggaccagcccaacggtggca	11	19	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:51228606C>T	uc002psy.2	+	4	1032	c.854C>T	c.(853-855)CCG>CTG	p.P285L		NM_002975	NP_002966	Q9Y240	CLC11_HUMAN	stem cell growth factor precursor	285	C-type lectin.				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			ovary(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCGCTCAGCCCGGACCAGCCC	0.701													T	51228606	C	T	51228606	3	4	48	1	0	0	0	0	1	0	0	0	3496	652	23	1	868	1	CLEC11A	19	51228606	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	87991	51228606	7900377	767	38784											
SIGLEC10	89790	broad.mit.edu	37	chr19	51914462	51914462	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggcataatggagctcctctTggctctcctgggattctggg	13	10	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:51914462T>A	uc002pwo.2	-	11	2601	c.1985A>T	c.(1984-1986)CAA>CTA	p.Q662L	SIGLEC10_uc002pwp.2_Missense_Mutation_p.Q604L|SIGLEC10_uc002pwq.2_Missense_Mutation_p.Q509L|SIGLEC10_uc002pwr.2_Missense_Mutation_p.Q567L|SIGLEC10_uc010ycy.1_Missense_Mutation_p.Q477L|SIGLEC10_uc010ycz.1_Missense_Mutation_p.Q519L|SIGLEC10_uc010eow.2_Missense_Mutation_p.Q379L	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	662	Cytoplasmic (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GAGCTCCTCTTGGCTCTCCTG	0.557													A	51914462	T	A	51914462	3	1	48	1	0	0	0	0	1	0	0	0	14306	1812	63	5	112	5	SIGLEC10	19	51914462	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	685856	51914462	7214521	768	38785											
SIGLEC12	89858	broad.mit.edu	37	chr19	51994931	51994931	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctcggagtactcatagccGatggcctcctgttcctgtgg	11	12	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:51994931G>A	uc002pwx.1	-	8	1808	c.1752C>T	c.(1750-1752)ATC>ATT	p.I584I	SIGLEC12_uc002pww.1_Silent_p.I466I|SIGLEC12_uc010eoy.1_Silent_p.I311I	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	584	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ACTCATAGCCGATGGCCTCCT	0.582													A	51994931	G	A	51994931	2	1	48	1	0	0	0	0	0	0	0	1	14308	1048	37	1		1	SIGLEC12	19	51994931	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	80469	51994931	7134052	769	38786											
SIGLEC12	89858	broad.mit.edu	37	chr19	52002839	52002839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggggtccagggaggacaCggaggcccccatccaggtga	17	11	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:52002839C>T	uc002pwx.1	-	3	996	c.940G>A	c.(940-942)GTG>ATG	p.V314M	SIGLEC12_uc002pww.1_Missense_Mutation_p.V196M|SIGLEC12_uc010eoy.1_Missense_Mutation_p.V41M	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	314	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGGGAGGACACGGAGGCCCCC	0.667													T	52002839	C	T	52002839	3	4	48	1	0	0	0	0	1	0	0	0	14308	536	19	1	871	1	SIGLEC12	19	52002839	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	7908	52002839	7126144	770	38787											
ZNF808	388558	broad.mit.edu	37	chr19	53058467	53058467	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaaccttacaagtgtaaCgactgtggcaataccttccg	9	10	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:53058467C>T	uc010epq.1	+	5	2475	c.2298C>T	c.(2296-2298)AAC>AAT	p.N766N	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	766	C2H2-type 20.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ACAAGTGTAACGACTGTGGCA	0.443													T	53058467	C	T	53058467	2	4	48	1	0	0	0	0	0	0	0	1	18170	535	19	1		1	ZNF808	19	53058467	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1055628	53058467	6070516	771	38788											
ZNF320	162967	broad.mit.edu	37	chr19	53384108	53384108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctttcaaggtgtgatttgCgaatgtaaactttgtcacat	9	6	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:53384108C>T	uc002qag.2	-	4	1462	c.1271G>A	c.(1270-1272)CGC>CAC	p.R424H	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.R370H|ZNF320_uc002qai.2_Missense_Mutation_p.R424H	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	424	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		GTGTGATTTGCGAATGTAAAC	0.388													T	53384108	C	T	53384108	3	4	48	1	0	0	0	0	1	0	0	0	17836	768	27	1	262	1	ZNF320	19	53384108	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	325641	53384108	5744875	772	38789											
ZNF816A	125893	broad.mit.edu	37	chr19	53454224	53454224	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgatatacaatgtattgcttCtgattaaagatcttgccaca	6	7	2	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:53454224C>A	uc002qal.1	-	5	1105	c.804G>T	c.(802-804)CAG>CAT	p.Q268H	ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.Q252H	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN	zinc finger protein 816A	268	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0313)		TGTATTGCTTCTGATTAAAGA	0.373													A	53454224	C	A	53454224	3	1	48	1	0	0	0	0	1	0	0	0	18174	912	32	5	1155	5	ZNF816A	19	53454224	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	70116	53454224	5674759	773	38790											
KIR2DL1	3802	broad.mit.edu	37	chr19	55285048	55285048	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcactccccctatcaggtgTcagctcccagtgaccctctg	7	18	4	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:55285048T>C	uc002qhb.1	+	3	372	c.334T>C	c.(334-336)TCA>CCA	p.S112P	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.S112P	NM_014218	NP_055033	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two	112	Extracellular (Potential).				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		CTATCAGGTGTCAGCTCCCAG	0.522													C	55285048	T	C	55285048	3	2	48	1	0	0	0	0	1	0	0	0	8316	1667	58	3	344	3	KIR2DL1	19	55285048	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	1830824	55285048	3843935	774	38791											
PPP1R12C	54776	broad.mit.edu	37	chr19	55607456	55607456	+	Frame_Shift_Del	DEL	G	G	-													ccctcatcctcgtcctggatGgggggccccccagccccacc							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:55607456delG	uc002qix.2	-	8	1132	c.1116delC	c.(1114-1116)CCCfs	p.P372fs	PPP1R12C_uc010yfs.1_Frame_Shift_Del_p.P298fs|PPP1R12C_uc002qiy.2_Frame_Shift_Del_p.P372fs	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	372						cytoplasm				ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CGTCCTGGATGGGGGGCCCCC	0.642													-	55607456	G	-	55607456	7	5	48	1	0	1	0	1	0	0	0	0	12356	1335	47	0	1292	0	PPP1R12C	19	55607456	Frame_Shift_Del	DEL	G	TCGA-BR-7703-01A-11D-2053-08	322408	55607456	3521527	775	38792											
SAPS1	22870	broad.mit.edu	37	chr19	55758396	55758396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcttcctcgtccagcagctCgggcaggctcaggtcctccc	11	17	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:55758396C>T	uc002qjw.3	-	2	318	c.76G>A	c.(76-78)GAG>AAG	p.E26K	SAPS1_uc002qjv.2_Missense_Mutation_p.E88K	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	SAPS domain family, member 1	26	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding				0		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TCCAGCAGCTCGGGCAGGCTC	0.617													T	55758396	C	T	55758396	3	4	48	1	0	0	0	0	1	0	0	0	13836	893	31	1	2661	1	SAPS1	19	55758396	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	150940	55758396	3370587	776	38793											
FIZ1	84922	broad.mit.edu	37	chr19	56104137	56104137	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tccctttcccgggcggcggtCgccgcctcctccccgccgcc	11	23	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:56104137C>G	uc002qli.3	-	3	1260	c.1170G>C	c.(1168-1170)GCG>GCC	p.A390A	FIZ1_uc002qlj.3_Silent_p.A390A	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GGGCGGCGGTCGCCGCCTCCT	0.741													G	56104137	C	G	56104137	2	3	48	1	0	0	0	0	0	0	0	1	5900	871	31	5		5	FIZ1	19	56104137	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	345741	56104137	3024846	777	38794											
EPN1	29924	broad.mit.edu	37	chr19	56200241	56200241	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacccgccctccagcctcaTcagcagctgtgggctcaggc	10	18	4	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:56200241T>C	uc002qlw.2	+	4	826	c.484T>C	c.(484-486)TCA>CCA	p.S162P	EPN1_uc002qlv.2_Missense_Mutation_p.S162P|EPN1_uc010etd.2_Missense_Mutation_p.S162P|EPN1_uc002qlx.2_Missense_Mutation_p.S273P	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	epsin 1 isoform b	162					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding				0		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		TCCAGCCTCATCAGCAGCTGT	0.672													C	56200241	T	C	56200241	3	2	48	1	0	0	0	0	1	0	0	0	5185	1435	50	3	835	3	EPN1	19	56200241	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	96104	56200241	2928742	778	38795											
NLRP11	204801	broad.mit.edu	37	chr19	56303726	56303726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgtcacatgcaacactccGtaattttttaagcgattcac	5	11	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:56303726G>A	uc010ygf.1	-	9	3165	c.2454C>T	c.(2452-2454)TAC>TAT	p.Y818Y	NLRP11_uc002qlz.2_Silent_p.Y665Y|NLRP11_uc002qmb.2_Silent_p.Y719Y|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	818	LRR 4.						ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GCAACACTCCGTAATTTTTTA	0.468													A	56303726	G	A	56303726	2	1	48	1	0	0	0	0	0	0	0	1	10473	1140	40	1		1	NLRP11	19	56303726	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	103485	56303726	2825257	779	38796											
ZNF444	55311	broad.mit.edu	37	chr19	56671208	56671208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcgggcgagaagccgcacGcctgccctgagtgcgggaag	16	13	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:56671208G>A	uc002qmm.2	+	5	989	c.622G>A	c.(622-624)GCC>ACC	p.A208T	ZNF444_uc002qmn.1_Missense_Mutation_p.A207T	NM_018337	NP_060807	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	208	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		GAAGCCGCACGCCTGCCCTGA	0.751													A	56671208	G	A	56671208	3	1	48	1	0	0	0	0	1	0	0	0	17914	1087	38	1	632	1	ZNF444	19	56671208	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	367482	56671208	2457775	780	38797											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596096	58596096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggggagcctcgccctccaCgctctctgggggaccgcccg	16	17	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:58596096C>T	uc002qri.2	-	7	1798	c.1489G>A	c.(1489-1491)GTG>ATG	p.V497M	ZSCAN18_uc002qrj.3_Missense_Mutation_p.V496M|ZSCAN18_uc010yhs.1_Missense_Mutation_p.V361M|ZSCAN18_uc002qrh.2_Missense_Mutation_p.V497M|ZSCAN18_uc010yht.1_Missense_Mutation_p.V553M|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	497					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TCGCCCTCCACGCTCTCTGGG	0.746													T	58596096	C	T	58596096	3	4	48	1	0	0	0	0	1	0	0	0	18227	536	19	1	47	1	ZSCAN18	19	58596096	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1924888	58596096	532887	781	38798											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596141	58596141	+	Frame_Shift_Del	DEL	G	G	-													agcccccgcctgggcttcgcGggtggacggttgggggcccc							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:58596141delG	uc002qri.2	-	7	1753	c.1444delC	c.(1444-1446)CGCfs	p.R482fs	ZSCAN18_uc002qrj.3_Frame_Shift_Del_p.R481fs|ZSCAN18_uc010yhs.1_Frame_Shift_Del_p.R346fs|ZSCAN18_uc002qrh.2_Frame_Shift_Del_p.R482fs|ZSCAN18_uc010yht.1_Frame_Shift_Del_p.R538fs|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	482					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TGGGCTTCGCGGGTGGACGGT	0.726													-	58596141	G	-	58596141	7	5	48	1	0	1	0	1	0	0	0	0	18227	1116	39	0	92	0	ZSCAN18	19	58596141	Frame_Shift_Del	DEL	G	TCGA-BR-7703-01A-11D-2053-08	45	58596141	532842	782	38799											
ZNF497	162968	broad.mit.edu	37	chr19	58867569	58867569	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttgcaacggtggctgaaaGgcttcccgcactcgccgcaa	13	13	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:58867569G>T	uc002qsh.1	-	3	1622	c.1433C>A	c.(1432-1434)CCT>CAT	p.P478H	A1BG_uc002qsd.3_5'Flank|A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Missense_Mutation_p.P478H|uc002qsj.1_5'Flank|uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	478	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GTGGCTGAAAGGCTTCCCGCA	0.697													T	58867569	G	T	58867569	3	4	48	1	0	0	0	0	1	0	0	0	17943	1000	35	5	67	5	ZNF497	19	58867569	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	271428	58867569	261414	783	38800											
TMC2	117532	broad.mit.edu	37	chr20	2575544	2575544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcgggtggctgaggtaccGgctgcctatggcttacttta	13	10	0	1	rs138292313	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:2575544G>A	uc002wgf.1	+	9	1022	c.1007G>A	c.(1006-1008)CGG>CAG	p.R336Q	TMC2_uc002wgg.1_Missense_Mutation_p.R320Q|TMC2_uc010zpw.1_Missense_Mutation_p.R168Q|TMC2_uc010zpx.1_Missense_Mutation_p.R167Q	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	336	Extracellular (Potential).					integral to membrane				ovary(3)	3						CTGAGGTACCGGCTGCCTATG	0.517													A	2575544	G	A	2575544	3	1	48	1	0	0	0	0	1	0	0	0	15982	1116	39	1	1041	1	TMC2	20	2575544	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08		2575544	60449976	784	38801											
PTPRA	5786	broad.mit.edu	37	chr20	3001963	3001963	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttctttccagtgcaagtgCgcccagtactggccagacca	9	13	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:3001963C>T	uc010zqd.1	+	13	1400	c.1083C>T	c.(1081-1083)TGC>TGT	p.C361C	PTPRA_uc002whj.2_Silent_p.C350C|PTPRA_uc002whk.2_Silent_p.C341C|PTPRA_uc002whl.2_Silent_p.C341C|PTPRA_uc002whm.2_Silent_p.C117C|PTPRA_uc002whn.2_Silent_p.C341C|PTPRA_uc002who.2_Silent_p.C13C	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	350	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						AGTGCAAGTGCGCCCAGTACT	0.532													T	3001963	C	T	3001963	2	4	48	1	0	0	0	0	0	0	0	1	12795	776	27	1		1	PTPRA	20	3001963	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	426419	3001963	60023557	785	38802											
SLC4A11	83959	broad.mit.edu	37	chr20	3215425	3215425	+	Frame_Shift_Del	DEL	A	A	-													atctcaaggttgacattgacAaaaaaacggatactctcgcc							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:3215425delA	uc002wig.2	-	2	300	c.252delT	c.(250-252)TTTfs	p.F84fs	SLC4A11_uc010zqe.1_Frame_Shift_Del_p.F111fs|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Frame_Shift_Del_p.F68fs	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	84	Cytoplasmic (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						TGACATTGACAAAAAAACGGA	0.587													-	3215425	A	-	3215425	7	5	48	1	0	1	0	1	0	0	0	0	14652	127	5	0	2495	0	SLC4A11	20	3215425	Frame_Shift_Del	DEL	A	TCGA-BR-7703-01A-11D-2053-08	213462	3215425	59810095	786	38803											
ATRN	8455	broad.mit.edu	37	chr20	3557644	3557644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagtgcattgccctgcccGgtaggccttgcagggtcatc	14	12	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:3557644G>A	uc002wim.2	+	14	2443	c.2353G>A	c.(2353-2355)GAA>AAA	p.E785K	ATRN_uc002wil.2_Missense_Mutation_p.E785K	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	785	Extracellular (Potential).|PSI 2.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2						TGCCCTGCCCGGTAGGCCTTG	0.577													A	3557644	G	A	3557644	3	1	48	1	0	0	0	0	1	0	0	0	1206	1130	39	1	2407	1	ATRN	20	3557644	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	342219	3557644	59467876	787	38804											
ATRN	8455	broad.mit.edu	37	chr20	3562942	3562942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatcagaacccagtactcGgggactgaaggctgcaacct	10	11	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:3562942G>A	uc002wim.2	+	16	2795	c.2705G>A	c.(2704-2706)CGG>CAG	p.R902Q	ATRN_uc002wil.2_Missense_Mutation_p.R902Q	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	902	Extracellular (Potential).|C-type lectin.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2						CCCAGTACTCGGGGACTGAAG	0.458													A	3562942	G	A	3562942	3	1	48	1	0	0	0	0	1	0	0	0	1206	1116	39	1	2767	1	ATRN	20	3562942	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	5298	3562942	59462578	788	38805											
SIGLEC1	6614	broad.mit.edu	37	chr20	3675116	3675116	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cactgtccacacggcacaggAggaggcccagtcgtccaggg	14	14	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:3675116A>T	uc002wja.2	-	12	3008	c.3008T>A	c.(3007-3009)CTC>CAC	p.L1003H	SIGLEC1_uc002wjb.1_5'Flank|SIGLEC1_uc002wiz.3_Missense_Mutation_p.L1003H	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1003	Ig-like C2-type 10.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						ACGGCACAGGAGGAGGCCCAG	0.677													T	3675116	A	T	3675116	3	4	48	1	0	0	0	0	1	0	0	0	14305	304	11	5	2161	5	SIGLEC1	20	3675116	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	112174	3675116	59350404	789	38806											
PLCB1	23236	broad.mit.edu	37	chr20	8639224	8639224	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tatcttaccgttgatcagatGatggattttatcaaccttaa	6	7	3	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:8639224G>T	uc002wnb.2	+	9	738	c.735G>T	c.(733-735)ATG>ATT	p.M245I	PLCB1_uc010zrb.1_Missense_Mutation_p.M144I|PLCB1_uc002wna.2_Missense_Mutation_p.M245I|PLCB1_uc002wnc.1_Missense_Mutation_p.M144I	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	245					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						TTGATCAGATGATGGATTTTA	0.323													T	8639224	G	T	8639224	3	4	48	1	0	0	0	0	1	0	0	0	12027	1290	45	5	769	5	PLCB1	20	8639224	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	4964108	8639224	54386296	790	38807											
BTBD3	22903	broad.mit.edu	37	chr20	11899210	11899210	+	Frame_Shift_Del	DEL	C	C	-													taacaacaaccttatcccggCcccaaactggcagggtcttt							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:11899209_11899209GC>G	uc002wnz.3	+	0	645	c.286_286GC>G	c.(286-288)gccfs	p.A96fs	BTBD3_uc002wny.3_Frame_Shift_Del_p.A35fs|BTBD3_uc002woa.3_Frame_Shift_Del_p.A35fs|BTBD3_uc010zrf.2_5'UTR|BTBD3_uc010zrg.2_5'Flank|BTBD3_uc010zrh.2_5'Flank	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN	Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.	96								p.P95T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						CCTTATCCCGGCCCCAAACTG	0.483													-	11899210	C	-	11899210	7	5	48	1	0	1	0	1	0	0	0	0	1544	739	26	0	289	0	BTBD3	20	11899210	Frame_Shift_Del	DEL	C	TCGA-BR-7703-01A-11D-2053-08	3259986	11899210	51126310	791	38808											
ESF1	51575	broad.mit.edu	37	chr20	13763472	13763472	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaactagattttttgaatcGatttcttttttagtctgggt	7	5	3	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:13763472G>A	uc002woj.2	-	2	423	c.315C>T	c.(313-315)ATC>ATT	p.I105I	ESF1_uc002wok.1_Silent_p.I105I|C20orf7_uc002wol.1_5'Flank|C20orf7_uc002wom.2_5'Flank|C20orf7_uc002won.2_5'Flank|C20orf7_uc002woo.2_5'Flank	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	105	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1						TTTTTGAATCGATTTCTTTTT	0.303													A	13763472	G	A	13763472	2	1	48	1	0	0	0	0	0	0	0	1	5251	1048	37	1		1	ESF1	20	13763472	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1864262	13763472	49262048	792	38809											
NAA20	51126	broad.mit.edu	37	chr20	20007472	20007472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctagggaagaatggcacGggcacgtcacagctctgtct	13	10	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:20007472G>A	uc002wrp.2	+	4	318	c.214G>A	c.(214-216)GGG>AGG	p.G72R	NAA20_uc002wrq.2_Missense_Mutation_p.G72R|NAA20_uc002wrr.2_Missense_Mutation_p.G60R	NM_016100	NP_057184	P61599	NAA20_HUMAN	N-acetyltransferase 5 isoform a	72	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity				0						AGAATGGCACGGGCACGTCAC	0.433													A	20007472	G	A	20007472	3	1	48	1	0	0	0	0	1	0	0	0	10120	1116	39	1	249	1	NAA20	20	20007472	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	6244000	20007472	43018048	793	38810											
CD93	22918	broad.mit.edu	37	chr20	23065992	23065992	+	Frame_Shift_Del	DEL	C	C	-													gccgcagaggaaggagccatCccccccttcaaagcagtcct							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:23065991_23065991TC>T	uc002wsv.3	-	0	987	c.839_839GA>A	c.(838-840)gatfs	p.D280fs		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	280	EGF-like 1.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.D280N(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAAGGAGCCATCCCCCCCTTC	0.632													-	23065992	C	-	23065992	7	5	48	1	0	1	0	1	0	0	0	0	3047	855	30	0	1128	0	CD93	20	23065992	Frame_Shift_Del	DEL	C	TCGA-BR-7703-01A-11D-2053-08	3058520	23065992	39959528	794	38811											
GZF1	64412	broad.mit.edu	37	chr20	23345920	23345920	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagggccggaggaggaAgaggaggaggaggaggagga	23	3	0	1	rs146870841		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:23345920A>G	uc010gdb.2	+	3	1074	c.900A>G	c.(898-900)GAA>GAG	p.E300E	GZF1_uc002wsy.2_Silent_p.E300E|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Silent_p.E300E	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	300					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					Cggaggaggaagaggaggagg	0.378													G	23345920	A	G	23345920	2	3	48	1	0	0	0	0	0	0	0	1	6914	69	3	3		3	GZF1	20	23345920	Silent	SNP	A	TCGA-BR-7703-01A-11D-2053-08	279928	23345920	39679600	795	38812											
CBFA2T2	9139	broad.mit.edu	37	chr20	32232360	32232360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtccgccgactgcagcGtgcccagcccagccctcgac	11	20	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:32232360G>A	uc002wzg.1	+	12	2260	c.1723G>A	c.(1723-1725)GTG>ATG	p.V575M	CBFA2T2_uc010zug.1_Missense_Mutation_p.V349M|CBFA2T2_uc002wze.1_Missense_Mutation_p.V566M|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Missense_Mutation_p.V546M|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA|CBFA2T2_uc002wzk.1_Missense_Mutation_p.V123M	NM_005093	NP_005084	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit	575						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)|skin(1)	2						CGACTGCAGCGTGCCCAGCCC	0.662													A	32232360	G	A	32232360	3	1	48	1	0	0	0	0	1	0	0	0	2697	1145	40	1	1803	1	CBFA2T2	20	32232360	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	8886440	32232360	30793160	796	38813											
CEP250	11190	broad.mit.edu	37	chr20	34067839	34067839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggaactggacactgaaCggagtcaggcagagcaggag	16	8	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:34067839C>T	uc002xcm.2	+	21	3126	c.2455C>T	c.(2455-2457)CGG>TGG	p.R819W	CEP250_uc010zve.1_Missense_Mutation_p.R187W	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	819	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGACACTGAACGGAGTCAGGC	0.582													T	34067839	C	T	34067839	3	4	48	1	0	0	0	0	1	0	0	0	3252	527	19	1	2521	1	CEP250	20	34067839	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1835479	34067839	28957681	797	38814											
SRC	6714	broad.mit.edu	37	chr20	36024669	36024669	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcggcttctacatcacctccCgcacccagttcaacagcctg	7	18	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:36024669C>A	uc002xgx.2	+	8	1107	c.658C>A	c.(658-660)CGC>AGC	p.R220S	SRC_uc002xgy.2_Missense_Mutation_p.R220S	NM_005417	NP_005408	P12931	SRC_HUMAN	proto-oncogene tyrosine-protein kinase SRC	220	SH2.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1)	13		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	CATCACCTCCCGCACCCAGTT	0.622													A	36024669	C	A	36024669	3	1	48	1	0	0	0	0	1	0	0	0	15133	652	23	5	676	5	SRC	20	36024669	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1956830	36024669	27000851	798	38815											
ACTR5	79913	broad.mit.edu	37	chr20	37384640	37384640	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcagaaaatcctccaagcGgaagtcaacctcgaggtgga	11	10	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:37384640G>A	uc002xjd.2	+	5	1159	c.1134G>A	c.(1132-1134)GCG>GCA	p.A378A		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog	378	Potential.				DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding				0		Myeloproliferative disorder(115;0.00878)				TCCTCCAAGCGGAAGTCAACC	0.537													A	37384640	G	A	37384640	2	1	48	1	0	0	0	0	0	0	0	1	215	1103	39	1		1	ACTR5	20	37384640	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1359971	37384640	25640880	799	38816											
PLCG1	5335	broad.mit.edu	37	chr20	39794988	39794988	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtaatgagtttgagatgCgactttcagagcctgtccca	11	9	1	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:39794988C>T	uc002xjp.1	+	17	2075	c.1954C>T	c.(1954-1956)CGA>TGA	p.R652*	PLCG1_uc002xjo.1_Nonsense_Mutation_p.R652*|PLCG1_uc010zwe.1_Nonsense_Mutation_p.R278*|PLCG1_uc010ggf.2_Nonsense_Mutation_p.R2*	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	652	SH2 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				GTTTGAGATGCGACTTTCAGA	0.587													T	39794988	C	T	39794988	4	4	48	1	0	0	0	0	0	1	0	0	12035	760	27	1	2020	1	PLCG1	20	39794988	Nonsense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2410348	39794988	23230532	800	38817											
CHD6	84181	broad.mit.edu	37	chr20	40112160	40112160	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagaattttctcctctgctcCtgaaaaggaatggaacaaaa	7	8	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:40112160C>A	uc002xka.1	-	16	2436	c.2258_splice	c.e16-1	p.G753_splice	CHD6_uc002xkd.2_Splice_Site_p.G731_splice	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6						chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TCCTCTGCTCCTGAAAAGGAA	0.433													A	40112160	C	A	40112160	5	1	48	1	0	0	0	0	0	0	1	0	3329	695	24	5	5978	5	CHD6	20	40112160	Splice_Site	SNP	C	TCGA-BR-7703-01A-11D-2053-08	317172	40112160	22913360	801	38818											
SEMG2	6407	broad.mit.edu	37	chr20	43850895	43850895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtagttaacaaacaacaaCgtgagactaaaaattctcat	5	7	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:43850895C>T	uc010ggz.2	+	2	679	c.622C>T	c.(622-624)CGT>TGT	p.R208C	SEMG2_uc002xnk.2_Missense_Mutation_p.R208C|SEMG2_uc002xnl.2_Missense_Mutation_p.R208C	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	208	2-2.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CAAACAACAACGTGAGACTAA	0.398													T	43850895	C	T	43850895	3	4	48	1	0	0	0	0	1	0	0	0	14045	536	19	1	628	1	SEMG2	20	43850895	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	3738735	43850895	19174625	802	38819											
MATN4	8785	broad.mit.edu	37	chr20	43926884	43926884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgaagaccaggccaacaCgaggcacgttaagggcacgg	14	12	0	2	rs142628816		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:43926884C>T	uc002xnn.2	-	7	1539	c.1352G>A	c.(1351-1353)CGT>CAT	p.R451H	MATN4_uc002xno.2_Missense_Mutation_p.R410H|MATN4_uc002xnp.2_Missense_Mutation_p.R369H|MATN4_uc010zwr.1_Missense_Mutation_p.R399H|MATN4_uc002xnr.1_Missense_Mutation_p.R451H	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	492	VWFA 2.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				CAGGCCAACACGAGGCACGTT	0.662													T	43926884	C	T	43926884	3	4	48	1	0	0	0	0	1	0	0	0	9336	536	19	1	409	1	MATN4	20	43926884	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	75989	43926884	19098636	803	38820											
SLC2A10	81031	broad.mit.edu	37	chr20	45354113	45354113	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcaggcatcaccgtgggCatcctgctctcctatgccct	11	15	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:45354113C>T	uc002xsl.2	+	2	535	c.438C>T	c.(436-438)GGC>GGT	p.G146G		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	146	Helical; Name=5; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				TCACCGTGGGCATCCTGCTCT	0.627													T	45354113	C	T	45354113	2	4	48	1	0	0	0	0	0	0	0	1	14539	697	25	2		2	SLC2A10	20	45354113	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1427229	45354113	17671407	804	38821											
PREX1	57580	broad.mit.edu	37	chr20	47253137	47253137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagcggtagcccagggccGccagcagctgcttggagaag	16	11	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:47253137G>A	uc002xtw.1	-	32	4054	c.4031C>T	c.(4030-4032)GCG>GTG	p.A1344V	PREX1_uc002xtv.1_Missense_Mutation_p.A641V	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	1344					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCCCAGGGCCGCCAGCAGCTG	0.687													A	47253137	G	A	47253137	3	1	48	1	0	0	0	0	1	0	0	0	12476	1087	38	1	984	1	PREX1	20	47253137	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1899024	47253137	15772383	805	38822											
STAU1	6780	broad.mit.edu	37	chr20	47741116	47741116	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtggggtgggccactctcCcgggccacctgtttcagagg	15	12	2	1	rs139881819		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:47741116C>A	uc002xud.2	-	7	1029	c.618G>T	c.(616-618)CGG>CGT	p.R206R	STAU1_uc002xua.2_Silent_p.R125R|STAU1_uc002xub.2_Silent_p.R131R|STAU1_uc002xuc.2_Silent_p.R125R|STAU1_uc002xue.2_Silent_p.R125R|STAU1_uc002xuf.2_Silent_p.R131R|STAU1_uc002xug.2_Silent_p.R206R	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	206	DRBM 2.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GGCCACTCTCCCGGGCCACCT	0.507													A	47741116	C	A	47741116	2	1	48	1	0	0	0	0	0	0	0	1	15271	610	22	5		5	STAU1	20	47741116	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	487979	47741116	15284404	806	38823											
ZNF217	7764	broad.mit.edu	37	chr20	52193262	52193262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaaggtttttcgtgacaatCcacacttggcctgtatctgc	8	10	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:52193262C>T	uc002xwq.3	-	3	2312	c.2041G>A	c.(2041-2043)GAT>AAT	p.D681N	ZNF217_uc010gij.1_Missense_Mutation_p.D673N	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	681					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TCGTGACAATCCACACTTGGC	0.468													T	52193262	C	T	52193262	3	4	48	1	0	0	0	0	1	0	0	0	17769	855	30	4	1113	4	ZNF217	20	52193262	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	4452146	52193262	10832258	807	38824											
TFAP2C	7022	broad.mit.edu	37	chr20	55206438	55206438	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcccagtcggccgaccccTactcgcatctgggggaagcg	12	16	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:55206438T>C	uc002xya.2	+	2	469	c.226T>C	c.(226-228)TAC>CAC	p.Y76H	TFAP2C_uc010zzi.1_5'UTR	NM_003222	NP_003213	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma	76	Gln/Pro-rich (transactivation domain).				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Colorectal(105;0.229)			GGCCGACCCCTACTCGCATCT	0.706													C	55206438	T	C	55206438	3	2	48	1	0	0	0	0	1	0	0	0	15786	1522	53	3	232	3	TFAP2C	20	55206438	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	3013176	55206438	7819082	808	38825											
GTPBP5	26164	broad.mit.edu	37	chr20	60770930	60770931	+	Frame_Shift_Del	DEL	CA	CA	-													gcgctggggcaagctgcttcCacagtgagccccgcaaggag					rs11700220	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:60770930_60770931delCA	uc002yce.3	+	3	315_316	c.277_278delCA	c.(277-279)CACfs	p.H93fs	GTPBP5_uc011aab.1_5'UTR|GTPBP5_uc011aac.1_5'UTR|GTPBP5_uc011aad.1_5'UTR|GTPBP5_uc011aae.1_5'UTR|GTPBP5_uc011aaf.1_Frame_Shift_Del_p.H93fs|GTPBP5_uc011aag.1_Frame_Shift_Del_p.H93fs	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	GTP binding protein 5	93	Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding				0	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			AAGCTGCTTCCACAGTGAGCCC	0.584													-	60770931	CA	-	60770930	7	5	48	1	0	1	0	1	0	0	0	0	6883	594	21	0	283	0	GTPBP5	20	60770930	Frame_Shift_Del	DEL	CA	TCGA-BR-7703-01A-11D-2053-08	5564492	60770930	2254590	809	38826											
LAMA5	3911	broad.mit.edu	37	chr20	60913608	60913608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcacagacagcgtcccaCccttgggtccttccggcagg	11	15	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:60913608C>T	uc002ycq.2	-	12	1601	c.1534G>A	c.(1534-1536)GTG>ATG	p.V512M		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	512	Laminin EGF-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGCGTCCCACCCTTGGGTCC	0.662													T	60913608	C	T	60913608	3	4	48	1	0	0	0	0	1	0	0	0	8609	507	18	4	9829	4	LAMA5	20	60913608	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	142678	60913608	2111912	810	38827											
DIDO1	11083	broad.mit.edu	37	chr20	61511207	61511207	+	Frame_Shift_Del	DEL	G	G	-													agcggtccttccggtgctgcGgggggtggctgggaagctcc							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:61511206_61511206CG>C	uc002ydr.2	-	15	6414	c.6102_6102CG>G	c.(6100-6102)ccgfs	p.P2034fs	DIDO1_uc002yds.2_Frame_Shift_Del_p.P2034fs	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	2034	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCCGGTGCTGCGGGGGGTGGC	0.721													-	61511207	G	-	61511207	7	5	48	1	0	1	0	1	0	0	0	0	4522	1116	39	0	625	0	DIDO1	20	61511207	Frame_Shift_Del	DEL	G	TCGA-BR-7703-01A-11D-2053-08	597599	61511207	1514313	811	38828											
TPD52L2	7165	broad.mit.edu	37	chr20	62500698	62500698	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgtctgactccatgacGgatgttcctgtcgacacagg	11	12	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:62500698G>A	uc002yhc.2	+	2	198	c.69G>A	c.(67-69)ACG>ACA	p.T23T	TPD52L2_uc002ygy.2_Silent_p.T23T|TPD52L2_uc002ygz.2_Silent_p.T23T|TPD52L2_uc002yha.2_Silent_p.T23T|TPD52L2_uc002yhb.2_Silent_p.T23T|TPD52L2_uc002yhd.2_Silent_p.T23T|TPD52L2_uc011abk.1_5'UTR|TPD52L2_uc011abl.1_Intron	NM_003288	NP_003279	O43399	TPD54_HUMAN	tumor protein D52-like 2 isoform e	23					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			ovary(1)|skin(1)	2	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					ACTCCATGACGGATGTTCCTG	0.517													A	62500698	G	A	62500698	2	1	48	1	0	0	0	0	0	0	0	1	16396	1103	39	1		1	TPD52L2	20	62500698	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	989491	62500698	524822	812	38829											
MYT1	4661	broad.mit.edu	37	chr20	62848507	62848507	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacacccagggccaacttGgccaaggagctggagaagtt	13	12	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:62848507G>A	uc002yii.2	+	11	2083	c.1719G>A	c.(1717-1719)TTG>TTA	p.L573L	MYT1_uc002yih.2_Silent_p.L275L|MYT1_uc002yij.2_Silent_p.L205L	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	573				ATPRANLA -> RHTQGQLG (in Ref. 5; AAA59897).	cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGGCCAACTTGGCCAAGGAGC	0.577													A	62848507	G	A	62848507	2	1	48	1	0	0	0	0	0	0	0	1	10106	1339	47	4		4	MYT1	20	62848507	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	347809	62848507	177013	813	38830											
SAMSN1	64092	broad.mit.edu	37	chr21	15882784	15882784	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacagcttgttatgccaccTgatgaaagcagaagttcaca	9	9	1	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr21:15882784T>C	uc002yju.1	-	5	492	c.410_splice	c.e5-1	p.S137_splice	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Splice_Site_p.S205_splice	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization						negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			ovary(3)|pancreas(1)	4				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTATGCCACCTGATGAAAGCA	0.463													C	15882784	T	C	15882784	5	2	48	1	0	0	0	0	0	0	1	0	13830	1594	55	3	729	3	SAMSN1	21	15882784	Splice_Site	SNP	T	TCGA-BR-7703-01A-11D-2053-08		15882784	32247111	814	38831											
GABPA	2551	broad.mit.edu	37	chr21	27137089	27137089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactatgagaaactcagtcGtgcattaaggtaagccttta	9	7	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr21:27137089G>A	uc002ylx.3	+	9	1654	c.1127G>A	c.(1126-1128)CGT>CAT	p.R376H	GABPA_uc002yly.3_Missense_Mutation_p.R376H	NM_002040	NP_002031	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha	376	ETS.				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			ovary(1)|central_nervous_system(1)	2						AAACTCAGTCGTGCATTAAGG	0.328													A	27137089	G	A	27137089	3	1	48	1	0	0	0	0	1	0	0	0	6157	1145	40	1	1157	1	GABPA	21	27137089	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	11254305	27137089	20992806	815	38832											
RNF160	26046	broad.mit.edu	37	chr21	30325581	30325581	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgacgtattaccaagtAcacgtaagttatcatacgta	8	10	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr21:30325581A>G	uc002ymr.2	-	17	3348	c.3335T>C	c.(3334-3336)GTA>GCA	p.V1112A		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	1066							ligase activity|zinc ion binding				0						ATTACCAAGTACACGTAAGTT	0.328													G	30325581	A	G	30325581	3	3	48	1	0	0	0	0	1	0	0	0	13455	391	14	3	2159	3	RNF160	21	30325581	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	3188492	30325581	17804314	816	38833											
BRWD1	54014	broad.mit.edu	37	chr21	40587277	40587277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgacttcccaaactaacGcagacagcctccttcaaaat	4	14	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr21:40587277G>A	uc002yxk.1	-	32	3810	c.3671C>T	c.(3670-3672)GCG>GTG	p.A1224V	BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.A1224V|BRWD1_uc010god.1_Missense_Mutation_p.A190V	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1224	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCAAACTAACGCAGACAGCCT	0.353													A	40587277	G	A	40587277	3	1	48	1	0	0	0	0	1	0	0	0	1525	1087	38	1	3574	1	BRWD1	21	40587277	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	10261696	40587277	7542618	817	38834											
CBS	875	broad.mit.edu	37	chr21	44488617	44488617	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccaaagccagggcactcAcagagctcacacttcaggcc	8	16	4	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr21:44488617A>G	uc002zcu.2	-	4	561	c.316_splice	c.e4+1	p.L106_splice	CBS_uc002zcs.1_5'Flank|CBS_uc002zct.2_Splice_Site_p.L106_splice|CBS_uc002zcw.3_Splice_Site_p.L106_splice|CBS_uc002zcv.2_Splice_Site_p.L106_splice	NM_000071	NP_000062	P35520	CBS_HUMAN	cystathionine-beta-synthase						cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding				0					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CAGGGCACTCACAGAGCTCAC	0.458													G	44488617	A	G	44488617	5	3	48	1	0	0	0	0	0	0	1	0	2711	173	6	3	1393	3	CBS	21	44488617	Splice_Site	SNP	A	TCGA-BR-7703-01A-11D-2053-08	3901340	44488617	3641278	818	38835											
ICOSLG	23308	broad.mit.edu	37	chr21	45657063	45657063	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcagctgagctccacgtcGctgcctaccatcgctctgac	10	17	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr21:45657063G>A	uc002zee.2	-	3	227	c.93C>T	c.(91-93)AGC>AGT	p.S31S	ICOSLG_uc011afc.1_Intron|ICOSLG_uc002zef.2_Intron|ICOSLG_uc010gpp.1_Silent_p.S31S	NM_015259	NP_056074	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand precursor	31	Ig-like V-type.|Extracellular (Potential).				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding				0				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GCTCCACGTCGCTGCCTACCA	0.502													A	45657063	G	A	45657063	2	1	48	1	0	0	0	0	0	0	0	1	7487	1078	38	1		1	ICOSLG	21	45657063	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1168446	45657063	2472832	819	38836											
DIP2A	23181	broad.mit.edu	37	chr21	47987520	47987520	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagctggaccccatctatgtCgcctacaacatgtgagcgca	9	14	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr21:47987520C>T	uc002zjo.2	+	38	4884	c.4701C>T	c.(4699-4701)GTC>GTT	p.V1567V	DIP2A_uc011afz.1_Silent_p.V1563V|DIP2A_uc002zjs.2_Silent_p.V247V|DIP2A_uc002zjt.2_RNA	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	1567					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCATCTATGTCGCCTACAACA	0.617													T	47987520	C	T	47987520	2	4	48	1	0	0	0	0	0	0	0	1	4527	871	31	1		1	DIP2A	21	47987520	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	2330457	47987520	142375	820	38837											
SCARF2	91179	broad.mit.edu	37	chr22	20783851	20783851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtccttgccgcggcaagCgcagcagcagccgagcagcg	16	14	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:20783851C>T	uc002zsj.1	-	8	1501	c.1396G>A	c.(1396-1398)GCT>ACT	p.A466T	SCARF2_uc002zsk.1_Missense_Mutation_p.A466T	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2 isoform 1	466	Cytoplasmic (Potential).				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCGCGGCAAGCGCAGCAGCAG	0.697													T	20783851	C	T	20783851	3	4	48	1	0	0	0	0	1	0	0	0	13884	768	27	1	1232	1	SCARF2	22	20783851	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08		20783851	30520715	821	38838											
PPIL2	23759	broad.mit.edu	37	chr22	22035655	22035655	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacatcgtggctgtgaggacGaccggcaacgtctacgccta	12	13	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:22035655G>A	uc010gtj.1	+	7	479	c.363G>A	c.(361-363)ACG>ACA	p.T121T	PPIL2_uc002zvh.3_Silent_p.T121T|PPIL2_uc002zvi.3_Silent_p.T121T|PPIL2_uc002zvg.3_Silent_p.T121T|PPIL2_uc011aij.1_Silent_p.T100T	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	peptidylprolyl isomerase-like 2 isoform a	121					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			ovary(2)	2	Colorectal(54;0.105)					CTGTGAGGACGACCGGCAACG	0.587													A	22035655	G	A	22035655	2	1	48	1	0	0	0	0	0	0	0	1	12327	1045	37	1		1	PPIL2	22	22035655	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1251804	22035655	29268911	822	38839											
GNAZ	2781	broad.mit.edu	37	chr22	23437850	23437850	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggagaggtgccccatcccGtgctccttgtctgggcccgc	14	15	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:23437850G>A	uc002zwu.1	+	2	505	c.-32G>A	c.(-34--30)CCGTG>CCATG		RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z							endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GCCCCATCCCGTGCTCCTTGT	0.647													A	23437850	G	A	23437850	1	1	48	1	0	0	0	0	0	0	0	0	6514	1160	40	1		1	GNAZ	22	23437850	Translation_Start_Site	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1402195	23437850	27866716	823	38840											
CABIN1	23523	broad.mit.edu	37	chr22	24563190	24563190	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacacttctgttggatgcctAccgtgtgtggcagcagggcc	14	11	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:24563190A>G	uc002zzi.1	+	32	5718	c.5591A>G	c.(5590-5592)TAC>TGC	p.Y1864C	CABIN1_uc002zzj.1_Missense_Mutation_p.Y1785C|CABIN1_uc002zzl.1_Missense_Mutation_p.Y1864C|CABIN1_uc002zzm.1_Missense_Mutation_p.Y289C	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1864					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						TTGGATGCCTACCGTGTGTGG	0.632													G	24563190	A	G	24563190	3	3	48	1	0	0	0	0	1	0	0	0	2528	391	14	3	5713	3	CABIN1	22	24563190	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	1125340	24563190	26741376	824	38841											
SEZ6L	23544	broad.mit.edu	37	chr22	26743798	26743798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctaccagtgtgaccccGgctatgacatcgtggggagt	12	12	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:26743798G>A	uc003acb.2	+	11	2482	c.2326G>A	c.(2326-2328)GGC>AGC	p.G776S	SEZ6L_uc003acc.2_Missense_Mutation_p.G776S|SEZ6L_uc011akc.1_Missense_Mutation_p.G776S|SEZ6L_uc003acd.2_Missense_Mutation_p.G776S|SEZ6L_uc011akd.1_Missense_Mutation_p.G776S|SEZ6L_uc003ace.2_Missense_Mutation_p.G776S|SEZ6L_uc003acf.1_Missense_Mutation_p.G549S|SEZ6L_uc010gvc.1_Missense_Mutation_p.G549S|SEZ6L_uc011ake.1_RNA	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	776	Sushi 3.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						GTGTGACCCCGGCTATGACAT	0.557													A	26743798	G	A	26743798	3	1	48	1	0	0	0	0	1	0	0	0	14143	1116	39	1	2368	1	SEZ6L	22	26743798	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2180608	26743798	24560768	825	38842											
KREMEN1	83999	broad.mit.edu	37	chr22	29534746	29534746	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtcatcaccaccagccccAgccacccacctcagactgtc	5	20	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:29534746A>G	uc011akm.1	+	7	1112	c.1099A>G	c.(1099-1101)AGC>GGC	p.S367G	KREMEN1_uc003ael.2_Missense_Mutation_p.S367G|KREMEN1_uc011akn.1_Missense_Mutation_p.S250G	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	kringle-containing transmembrane protein 1	365	Extracellular (Potential).				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			ovary(3)|lung(2)	5						CACCAGCCCCAGCCACCCACC	0.592													G	29534746	A	G	29534746	3	3	48	1	0	0	0	0	1	0	0	0	8442	188	7	3	1125	3	KREMEN1	22	29534746	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	2790948	29534746	21769820	826	38843											
THOC5	8563	broad.mit.edu	37	chr22	29940500	29940500	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggatctcagccatcagcctCtgtagctcctggcaggtgta	11	12	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:29940500C>A	uc003afr.2	-	4	524	c.189G>T	c.(187-189)CAG>CAT	p.Q63H	THOC5_uc003afs.2_Missense_Mutation_p.Q63H|THOC5_uc003aft.2_Missense_Mutation_p.Q63H|THOC5_uc003afu.2_Missense_Mutation_p.Q63H|THOC5_uc010gvo.2_5'UTR|THOC5_uc003afv.1_Missense_Mutation_p.Q63H|THOC5_uc003afw.1_5'Flank	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN	THO complex 5	63	Interaction with THOC7.|Interaction with CSF1R (By similarity).				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			breast(3)	3						CCATCAGCCTCTGTAGCTCCT	0.542													A	29940500	C	A	29940500	3	1	48	1	0	0	0	0	1	0	0	0	15865	912	32	5	1934	5	THOC5	22	29940500	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	405754	29940500	21364066	827	38844											
C22orf42	150297	broad.mit.edu	37	chr22	32546324	32546324	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatctccggtgtcatgagGtcttcaagagagacagatag	11	9	4	4			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:32546324G>A	uc003amd.2	-	7	677	c.636C>T	c.(634-636)GAC>GAT	p.D212D		NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	212										ovary(1)|skin(1)	2						GTGTCATGAGGTCTTCAAGAG	0.398													A	32546324	G	A	32546324	2	1	48	1	0	0	0	0	0	0	0	1	2149	1252	44	4		4	C22orf42	22	32546324	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2605824	32546324	18758242	828	38845											
MYH9	4627	broad.mit.edu	37	chr22	36684413	36684413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccgggcggccactgccatcGagcgctgcttcctctcgtcc	11	18	1	0	rs145319741		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:36684413G>A	uc003apg.2	-	34	5048	c.4817C>T	c.(4816-4818)TCG>TTG	p.S1606L		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1606	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CACTGCCATCGAGCGCTGCTT	0.617			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				A	36684413	G	A	36684413	3	1	48	1	0	0	0	0	1	0	0	0	10042	1059	37	1	1097	1	MYH9	22	36684413	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	4138089	36684413	14620153	829	38846											
MYH9	4627	broad.mit.edu	37	chr22	36693034	36693034	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcttctccagctcctgtcGctgcttctcctccctgcgga	9	17	3	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:36693034G>A	uc003apg.2	-	25	3358	c.3127C>T	c.(3127-3129)CGA>TGA	p.R1043*		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1043	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						AGCTCCTGTCGCTGCTTCTCC	0.597			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				A	36693034	G	A	36693034	4	1	48	1	0	0	0	0	0	1	0	0	10042	1095	38	1	2823	1	MYH9	22	36693034	Nonsense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	8621	36693034	14611532	830	38847											
CSF2RB	1439	broad.mit.edu	37	chr22	37332596	37332596	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tctctgctcttgcagaacggGagcgcagagctttggccccc	12	14	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:37332596G>T	uc003aqa.3	+	13	1687	c.1470G>T	c.(1468-1470)GGG>GGT	p.G490G	CSF2RB_uc003aqc.3_Silent_p.G496G	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	490	Cytoplasmic (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	TGCAGAACGGGAGCGCAGAGC	0.667													T	37332596	G	T	37332596	2	4	48	1	0	0	0	0	0	0	0	1	3935	1161	41	5		5	CSF2RB	22	37332596	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	639562	37332596	13971970	831	38848											
IL2RB	3560	broad.mit.edu	37	chr22	37524250	37524250	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccccctgcccaggaggcctGgaccaggggaaactgactcc	12	16	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:37524250G>T	uc003aqv.1	-	10	1673	c.1542C>A	c.(1540-1542)TCC>TCA	p.S514S		NM_000878	NP_000869	P14784	IL2RB_HUMAN	interleukin 2 receptor beta precursor	514	Cytoplasmic (Potential).				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity				0					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CAGGAGGCCTGGACCAGGGGA	0.637													T	37524250	G	T	37524250	2	4	48	1	0	0	0	0	0	0	0	1	7687	1335	47	5		5	IL2RB	22	37524250	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	191654	37524250	13780316	832	38849											
NPTXR	23467	broad.mit.edu	37	chr22	39222674	39222674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctcgggcagagccttcCgcacgcgggcgtacatgtag	15	12	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:39222674C>T	uc003awk.2	-	3	1083	c.929G>A	c.(928-930)CGG>CAG	p.R310Q		NM_014293	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	310	Pentaxin.|Extracellular (Potential).					integral to membrane	metal ion binding			central_nervous_system(2)|skin(1)	3	Melanoma(58;0.04)					CAGAGCCTTCCGCACGCGGGC	0.632													T	39222674	C	T	39222674	3	4	48	1	0	0	0	0	1	0	0	0	10604	652	23	1	585	1	NPTXR	22	39222674	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1698424	39222674	12081892	833	38850											
PDGFB	5155	broad.mit.edu	37	chr22	39621798	39621798	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttccggtgcttgcccttgGggggccggcggactcgcacc	15	14	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:39621798G>T	uc003axf.2	-	6	1645	c.656C>A	c.(655-657)CCC>CAC	p.P219H	PDGFB_uc003axe.2_Missense_Mutation_p.P204H	NM_002608	NP_002599	P01127	PDGFB_HUMAN	platelet-derived growth factor beta isoform 1	219					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity	p.P219P(1)	COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(1)	373	Melanoma(58;0.04)				Becaplermin(DB00102)	CTTGCCCTTGGGGGGCCGGCG	0.597			T	COL1A1	DFSP								T	39621798	G	T	39621798	3	4	48	1	0	0	0	0	1	0	0	0	11658	1232	43	5	73	5	PDGFB	22	39621798	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	399124	39621798	11682768	834	38851											
PDGFB	5155	broad.mit.edu	37	chr22	39631827	39631827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggagatcatcaaaggagCggatcgagtggtcactcagc	14	8	4	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:39631827C>T	uc003axf.2	-	2	1105	c.116G>A	c.(115-117)CGC>CAC	p.R39H	PDGFB_uc003axe.2_Missense_Mutation_p.R24H	NM_002608	NP_002599	P01127	PDGFB_HUMAN	platelet-derived growth factor beta isoform 1	39					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(1)	373	Melanoma(58;0.04)				Becaplermin(DB00102)	ATCAAAGGAGCGGATCGAGTG	0.602			T	COL1A1	DFSP								T	39631827	C	T	39631827	3	4	48	1	0	0	0	0	1	0	0	0	11658	768	27	1	629	1	PDGFB	22	39631827	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	10029	39631827	11672739	835	38852											
ENTHD1	150350	broad.mit.edu	37	chr22	40140075	40140075	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcctctacatcagaagacActgggcccctagaagcaaag	8	12	2	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:40140075A>G	uc003ayg.2	-	7	1684	c.1433T>C	c.(1432-1434)GTG>GCG	p.V478A		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	478										ovary(2)|skin(1)	3	Melanoma(58;0.0749)					ATCAGAAGACACTGGGCCCCT	0.408													G	40140075	A	G	40140075	3	3	48	1	0	0	0	0	1	0	0	0	5137	159	6	3	394	3	ENTHD1	22	40140075	Missense_Mutation	SNP	A	TCGA-BR-7703-01A-11D-2053-08	508248	40140075	11164491	836	38853											
SREBF2	6721	broad.mit.edu	37	chr22	42271637	42271637	+	Frame_Shift_Del	DEL	C	C	-													tcagaatgtccttctgatgtCccccccagcctctgactcag					rs79727196		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:42271636_42271636TC>T	uc003bbi.3	+	6	1463	c.1294_1294TC>T	c.(1294-1296)tccfs	p.S432fs	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	432	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCTTCTGATGTCCCCCCCAGC	0.522													-	42271637	C	-	42271637	7	5	48	1	0	1	0	1	0	0	0	0	15141	855	30	0	1321	0	SREBF2	22	42271637	Frame_Shift_Del	DEL	C	TCGA-BR-7703-01A-11D-2053-08	2131562	42271637	9032929	837	38854											
TTLL1	25809	broad.mit.edu	37	chr22	43442449	43442449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgaggacttccttaggtGgcgacttgttccatttgcag	12	10	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:43442449G>A	uc003bdi.2	-	10	1350	c.1109C>T	c.(1108-1110)CCA>CTA	p.P370L	TTLL1_uc010gzh.2_Missense_Mutation_p.P341L|TTLL1_uc003bdj.2_Missense_Mutation_p.P256L|TTLL1_uc003bdh.2_Missense_Mutation_p.P332L	NM_012263	NP_036395	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	370					protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			skin(1)	1		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TTCCTTAGGTGGCGACTTGTT	0.502													A	43442449	G	A	43442449	3	1	48	1	0	0	0	0	1	0	0	0	16719	1348	47	4	170	4	TTLL1	22	43442449	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1170812	43442449	7862117	838	38855											
PRR5-ARHGAP8	553158	broad.mit.edu	37	chr22	45127647	45127649	+	In_Frame_Del	DEL	CTT	CTT	-													tcactggcagagacctgggaCttcttcttcagtgacgtgct							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:45127647_45127649delCTT	uc003bfd.2	+	5	632_634	c.360_362delCTT	c.(358-363)GACTTC>GAC	p.F123del	PRR5_uc003bew.1_In_Frame_Del_p.F114del|PRR5_uc003bex.1_In_Frame_Del_p.F28del|PRR5_uc010gzt.1_In_Frame_Del_p.F146del|PRR5_uc010gzu.1_In_Frame_Del_p.F87del|PRR5_uc003bey.1_In_Frame_Del_p.F114del|PRR5_uc003bez.1_In_Frame_Del_p.F28del|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_In_Frame_Del_p.F16del|PRR5_uc003bfb.1_In_Frame_Del_p.F123del|PRR5_uc003bfe.1_RNA|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_In_Frame_Del_p.F22del	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2											skin(2)	2						AGACCTGGGACTTCTTCTTCAGT	0.66													-	45127649	CTT	-	45127647	7	5	48	1	0	1	0	1	0	0	0	0	12601	564	20	0		0	PRR5-ARHGAP8	22	45127647	In_Frame_Del	DEL	CTT	TCGA-BR-7703-01A-11D-2053-08	1685198	45127647	6176919	839	38856											
PKDREJ	10343	broad.mit.edu	37	chr22	46657156	46657156	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagcaatgaacttggtccCacggtgaaactgagtaactg	11	9	0	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:46657156C>A	uc003bhh.2	-	1	2064	c.2064G>T	c.(2062-2064)GTG>GTT	p.V688V		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	688	Extracellular (Potential).|REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AACTTGGTCCCACGGTGAAAC	0.398													A	46657156	C	A	46657156	2	1	48	1	0	0	0	0	0	0	0	1	11970	581	21	5		5	PKDREJ	22	46657156	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	1529509	46657156	4647410	840	38857											
CELSR1	9620	broad.mit.edu	37	chr22	46760632	46760632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtggttggccacagcgtcCcctgaggcacgagagcggtg	16	12	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:46760632C>T	uc003bhw.1	-	33	8556	c.8556G>A	c.(8554-8556)GGG>GGA	p.G2852G		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2852	Cytoplasmic (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCACAGCGTCCCCTGAGGCAC	0.677													T	46760632	C	T	46760632	2	4	48	1	0	0	0	0	0	0	0	1	3221	637	22	4		4	CELSR1	22	46760632	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	103476	46760632	4543934	841	38858											
TUBGCP6	85378	broad.mit.edu	37	chr22	50660233	50660233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccagccatcccaggcaggcGagtgttgctctgcagaccca	11	15	1	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:50660233G>A	uc003bkb.1	-	16	3067	c.2555C>T	c.(2554-2556)TCG>TTG	p.S852L	TUBGCP6_uc003bka.1_5'UTR|TUBGCP6_uc010har.1_Missense_Mutation_p.S844L|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_Missense_Mutation_p.S48L	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	852					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCAGGCAGGCGAGTGTTGCTC	0.647													A	50660233	G	A	50660233	3	1	48	1	0	0	0	0	1	0	0	0	16767	1059	37	1	2944	1	TUBGCP6	22	50660233	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	3899601	50660233	644333	842	38859											
TUBGCP6	85378	broad.mit.edu	37	chr22	50662832	50662832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcatccaaggccatccGttctgacatctgccggtcta	10	15	3	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:50662832G>A	uc003bkb.1	-	12	2595	c.2083C>T	c.(2083-2085)CGG>TGG	p.R695W	TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Missense_Mutation_p.R695W|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_Translation_Start_Site|TUBGCP6_uc003bkd.1_Missense_Mutation_p.R49W	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	695					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AAGGCCATCCGTTCTGACATC	0.602													A	50662832	G	A	50662832	3	1	48	1	0	0	0	0	1	0	0	0	16767	1144	40	1	3432	1	TUBGCP6	22	50662832	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2599	50662832	641734	843	38860											
TUBGCP6	85378	broad.mit.edu	37	chr22	50664481	50664481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgagcccctcctcacccGggggcagcagagcttcagca	11	16	2	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:50664481G>A	uc003bkb.1	-	9	2343	c.1831C>T	c.(1831-1833)CGG>TGG	p.R611W	TUBGCP6_uc010har.1_Missense_Mutation_p.R611W|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_5'Flank|TUBGCP6_uc003bkd.1_5'UTR	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	611					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTCCTCACCCGGGGGCAGCAG	0.597													A	50664481	G	A	50664481	3	1	48	1	0	0	0	0	1	0	0	0	16767	1115	39	1	3696	1	TUBGCP6	22	50664481	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1649	50664481	640085	844	38861											
P2RY8	286530	broad.mit.edu	37	chrX	1584882	1584882	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggtgaagaggaacacggcCcacatggccacgctggggag	16	10	0	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:1584882C>A	uc004cpz.2	-	2	818	c.570G>T	c.(568-570)TGG>TGT	p.W190C		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	190	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAACACGGCCCACATGGCCA	0.617			T	CRLF2	B-ALL|Downs associated ALL								A	1584882	C	A	1584882	3	1	48	1	0	0	0	0	1	0	0	0	11355	624	22	5	513	5	P2RY8	23	1584882	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08		1584882	153685678	845	38862											
CNKSR2	22866	broad.mit.edu	37	chrX	21609256	21609256	+	Frame_Shift_Del	DEL	A	A	-													gttacttttcacagaaatggAaaaaatattggtttgtccta							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:21609256delA	uc004czx.1	+	15	1810	c.1774delA	c.(1774-1776)AAAfs	p.K592fs	CNKSR2_uc004czw.2_Frame_Shift_Del_p.K592fs|CNKSR2_uc011mjn.1_Frame_Shift_Del_p.K543fs|CNKSR2_uc011mjo.1_Frame_Shift_Del_p.K562fs|CNKSR2_uc004czy.2_Frame_Shift_Del_p.K184fs	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	592	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						ACAGAAATGGAAAAAATATTG	0.378													-	21609256	A	-	21609256	7	5	48	1	0	1	0	1	0	0	0	0	3607	247	9	0	1832	0	CNKSR2	23	21609256	Frame_Shift_Del	DEL	A	TCGA-BR-7703-01A-11D-2053-08	20024374	21609256	133661304	846	38863											
PCYT1B	9468	broad.mit.edu	37	chrX	24608251	24608251	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcggcttcattcatcacGgtgaaacctttgaatttgtg	8	10	4	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:24608251G>A	uc004dbi.2	-	4	608	c.375C>T	c.(373-375)ACC>ACT	p.T125T	PCYT1B_uc004dbk.3_Silent_p.T125T|PCYT1B_uc004dbj.2_Silent_p.T107T	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	choline phosphate cytidylyltransferase 1 beta	125	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity				0					Choline(DB00122)	CATTCATCACGGTGAAACCTT	0.493													A	24608251	G	A	24608251	2	1	48	1	0	0	0	0	0	0	0	1	11611	1103	39	1		1	PCYT1B	23	24608251	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2998995	24608251	130662309	847	38864											
FAM47B	170062	broad.mit.edu	37	chrX	34962029	34962029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagaagctggaagacgcaCgggctcgttgtgagggccag	17	8	0	4			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:34962029C>T	uc004ddi.1	+	1	1099	c.1081C>T	c.(1081-1083)CGG>TGG	p.R361W		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	361										ovary(3)|breast(1)	4						GGAAGACGCACGGGCTCGTTG	0.532													T	34962029	C	T	34962029	3	4	48	1	0	0	0	0	1	0	0	0	5570	527	19	1	1083	1	FAM47B	23	34962029	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	10353778	34962029	120308531	848	38865											
DDX3X	1654	broad.mit.edu	37	chrX	41201759	41201759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgttcaggtttgatgatcGtggacggagtgattacgatg	15	5	1	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:41201759G>A	uc004dfe.2	+	5	1151	c.296G>A	c.(295-297)CGT>CAT	p.R99H	DDX3X_uc010nhf.1_Missense_Mutation_p.R83H|DDX3X_uc004dff.2_Missense_Mutation_p.R99H|DDX3X_uc011mkq.1_Missense_Mutation_p.R83H|DDX3X_uc011mkr.1_Missense_Mutation_p.R99H|DDX3X_uc011mks.1_Missense_Mutation_p.R99H|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	99					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						TTTGATGATCGTGGACGGAGT	0.423										HNSCC(61;0.18)			A	41201759	G	A	41201759	3	1	48	1	0	0	0	0	1	0	0	0	4358	1145	40	1	314	1	DDX3X	23	41201759	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	6239730	41201759	114068801	849	38866											
AR	367	broad.mit.edu	37	chrX	66765081	66765081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctgttccagagcgtgcgCgaagtgatccagaacccggg	13	11	1	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:66765081C>T	uc004dwu.1	+	1	1208	c.93C>T	c.(91-93)CGC>CGT	p.R31R	AR_uc011mpd.1_Silent_p.R31R|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.R31R	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	31	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	AGAGCGTGCGCGAAGTGATCC	0.572									Androgen_Insensitivity_Syndrome				T	66765081	C	T	66765081	2	4	48	1	0	0	0	0	0	0	0	1	836	755	27	1		1	AR	23	66765081	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	25563322	66765081	88505479	850	38867											
FAM155B	27112	broad.mit.edu	37	chrX	68725613	68725614	+	Frame_Shift_Ins	INS	-	-	C													ttcgaaccgactactccggcINScccccctctgcggccccctg							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:68725612_68725613G>GC	uc004dxk.3	+	0	535_536	c.487_488G>GC	c.(487-489)gccfs	p.A163fs		NM_015686	NP_056501	O75949	F155B_HUMAN	Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA.	163						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GACTACTCCGGCCCCCCCTCTG	0.624													C	68725614	-	C	68725613	7	5	48	1	0	1	1	0	0	0	0	0	5466	739	26	0	490	0	FAM155B	23	68725613	Frame_Shift_Ins	INS	-	TCGA-BR-7703-01A-11D-2053-08	1960532	68725613	86544947	851	38868											
ERCC6L	54821	broad.mit.edu	37	chrX	71426804	71426808	+	Frame_Shift_Del	DEL	TTAAT	TTAAT	-													ttcaccagtagtttgtcttaTtaatgagtccttgaaaacct							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:71426804_71426808delTTAAT	uc004eaq.1	-	2	1906_1910	c.1809_1813delATTAA	c.(1807-1815)TCATTAATAfs	p.S603fs	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Frame_Shift_Del_p.S480fs	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	603_605	Helicase C-terminal.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)					GTTTGTCTTATTAATGAGTCCTTGA	0.346													-	71426808	TTAAT	-	71426804	7	5	48	1	0	1	0	1	0	0	0	0	5218	1493	52	0	1943	0	ERCC6L	23	71426804	Frame_Shift_Del	DEL	TTAAT	TCGA-BR-7703-01A-11D-2053-08	2701191	71426804	83843756	852	38869											
PCDH11X	27328	broad.mit.edu	37	chrX	91873424	91873424	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctatgccacagcccaccaCtgtcacaggcctctactcag	6	18	4	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:91873424C>T	uc004efk.1	+	7	4374	c.3529C>T	c.(3529-3531)CTG>TTG	p.L1177L	PCDH11X_uc004efl.1_Silent_p.L1167L|PCDH11X_uc004efo.1_Silent_p.L1140L|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Silent_p.L1169L|PCDH11X_uc004efn.1_Silent_p.L1159L	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1177	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						CAGCCCACCACTGTCACAGGC	0.572													T	91873424	C	T	91873424	2	4	48	1	0	0	0	0	0	0	0	1	11508	564	20	4		4	PCDH11X	23	91873424	Silent	SNP	C	TCGA-BR-7703-01A-11D-2053-08	20446620	91873424	63397136	853	38870											
CSTF2	1478	broad.mit.edu	37	chrX	100077380	100077380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcgagtggacaatgctgCcagtgaaaagaacaaagaag	11	7	0	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:100077380C>T	uc004egh.2	+	3	336	c.278C>T	c.(277-279)GCC>GTC	p.A93V	CSTF2_uc010nnd.2_Missense_Mutation_p.A93V|CSTF2_uc004egi.2_Missense_Mutation_p.A93V	NM_001325	NP_001316	P33240	CSTF2_HUMAN	cleavage stimulation factor subunit 2	93	RRM.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding			skin(1)	1						GACAATGCTGCCAGTGAAAAG	0.443													T	100077380	C	T	100077380	3	4	48	1	0	0	0	0	1	0	0	0	3984	739	26	2	288	2	CSTF2	23	100077380	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	8203956	100077380	55193180	854	38871											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685490	125685490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagcagggagccctgacCggtgcccacagtgatgatgt	15	10	0	4			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:125685490C>T	uc004eul.2	-	1	1353	c.1102G>A	c.(1102-1104)GGT>AGT	p.G368S		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	368	WD 4.									skin(3)|ovary(1)	4						GAGCCCTGACCGGTGCCCACA	0.632													T	125685490	C	T	125685490	3	4	48	1	0	0	0	0	1	0	0	0	4264	652	23	1	293	1	DCAF12L1	23	125685490	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	25608110	125685490	29585070	855	38872											
IGSF1	3547	broad.mit.edu	37	chrX	130408768	130408768	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaattcaacacctggcagggGtcctcggcactgaagggtga	13	10	1	2			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:130408768G>T	uc004ewd.2	-	18	3794	c.3556C>A	c.(3556-3558)CCC>ACC	p.P1186T	IGSF1_uc004ewe.3_Missense_Mutation_p.P1180T|IGSF1_uc004ewf.2_Missense_Mutation_p.P1166T	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	1186	Extracellular (Potential).|Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						CCTGGCAGGGGTCCTCGGCAC	0.502													T	130408768	G	T	130408768	3	4	48	1	0	0	0	0	1	0	0	0	7596	1261	44	5	466	5	IGSF1	23	130408768	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	4723278	130408768	24861792	856	38873											
GPC4	2239	broad.mit.edu	37	chrX	132439923	132439923	+	Frame_Shift_Del	DEL	G	G	-													cgtccagctgggaggggcttGgggggtccacatccctggaa							TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:132439922_132439922TG>T	uc004exc.1	-	5	1245	c.1033_1033CA>A	c.(1033-1035)aagfs	p.K345fs	GPC4_uc011mvg.1_Frame_Shift_Del_p.K275fs	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	345					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.K345fs*49(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GGGAGGGGCTTGGGGGGTCCA	0.592													-	132439923	G	-	132439923	7	5	48	1	0	1	0	1	0	0	0	0	6600	1335	47	0	654	0	GPC4	23	132439923	Frame_Shift_Del	DEL	G	TCGA-BR-7703-01A-11D-2053-08	2031155	132439923	22830637	857	38874											
LDOC1	23641	broad.mit.edu	37	chrX	140271020	140271020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgataaactcggggagccGggagctctcgccattaaacg	12	12	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:140271020G>A	uc004fbj.2	-	1	291	c.187C>T	c.(187-189)CGG>TGG	p.R63W		NM_012317	NP_036449	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	63					negative regulation of cell proliferation	nucleus	protein binding				0	Acute lymphoblastic leukemia(192;7.65e-05)					TCGGGGAGCCGGGAGCTCTCG	0.622													A	140271020	G	A	140271020	3	1	48	1	0	0	0	0	1	0	0	0	8709	1115	39	1	257	1	LDOC1	23	140271020	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	7831097	140271020	14999540	858	38875											
CXorf40B	541578	broad.mit.edu	37	chrX	149101879	149101879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacttttcccctttcctgaGcaaggcctgaatctgagcag	8	12	1	3			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:149101879G>A	uc004fdy.2	-	4	730	c.214C>T	c.(214-216)CTC>TTC	p.L72F	CXorf40B_uc011mxs.1_RNA	NM_001013845	NP_001013867	Q96DE9	CX04B_HUMAN	hypothetical protein LOC541578	72											0	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTCCTGAGCAAGGCCTGA	0.562													A	149101879	G	A	149101879	3	1	48	1	0	0	0	0	1	0	0	0	4109	971	34	2	270	2	CXorf40B	23	149101879	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	8830859	149101879	6168681	859	38876											
CXorf40B	541578	broad.mit.edu	37	chrX	149101975	149101975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgagcaatgtggacggCgatggtacagttccgctggc	15	10	0	1			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:149101975C>T	uc004fdy.2	-	4	634	c.118G>A	c.(118-120)GCC>ACC	p.A40T	CXorf40B_uc011mxs.1_RNA	NM_001013845	NP_001013867	Q96DE9	CX04B_HUMAN	hypothetical protein LOC541578	40											0	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTGGACGGCGATGGTACAG	0.587													T	149101975	C	T	149101975	3	4	48	1	0	0	0	0	1	0	0	0	4109	768	27	1	366	1	CXorf40B	23	149101975	Missense_Mutation	SNP	C	TCGA-BR-7703-01A-11D-2053-08	96	149101975	6168585	860	38877											
ZNF185	7739	broad.mit.edu	37	chrX	152085675	152085675	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccttcttctcttcggcagGcctccgagcacaagggctcc	9	18	2	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:152085675G>A	uc010ntv.1	+	4	262	c.225G>A	c.(223-225)AGG>AGA	p.R75R	ZNF185_uc011myg.1_Silent_p.R75R|ZNF185_uc011myh.1_Silent_p.R75R|ZNF185_uc011myi.1_Silent_p.R75R|ZNF185_uc011myj.1_Silent_p.R75R|ZNF185_uc011myk.1_Silent_p.R75R|ZNF185_uc004fgw.3_5'Flank|ZNF185_uc004fgu.2_5'Flank	NM_007150	NP_009081	O15231	ZN185_HUMAN	zinc finger protein 185	75						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTCGGCAGGCCTCCGAGCA	0.572													A	152085675	G	A	152085675	2	1	48	1	0	0	0	0	0	0	0	1	17749	1217	42	2		2	ZNF185	23	152085675	Silent	SNP	G	TCGA-BR-7703-01A-11D-2053-08	2983700	152085675	3184885	861	38878											
CTAG2	30848	broad.mit.edu	37	chrX	153881608	153881608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgccatgcggaccccgcGgggcgcctcctctcggcccc	12	22	1	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:153881608G>A	uc004fmi.1	-	1	235	c.182C>T	c.(181-183)CCG>CTG	p.P61L	CTAG2_uc004fmh.1_Missense_Mutation_p.P61L	NM_020994	NP_066274	O75638	CTAG2_HUMAN	cancer/testis antigen 2 isoform LAGE-1b	61	Gly-rich.					centrosome				pancreas(1)	1	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGGACCCCGCGGGGCGCCTCC	0.746													A	153881608	G	A	153881608	3	1	48	1	0	0	0	0	1	0	0	0	3991	1116	39	1	597	1	CTAG2	23	153881608	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08	1795933	153881608	1388952	862	38879											
BRCC3	79184	broad.mit.edu	37	chrX	154305518	154305518	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgataagaggaaggaccgagTagaaatttctccagagcagc	12	7	1	4			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:154305518T>C	uc004fna.2	+	4	362	c.269T>C	c.(268-270)GTA>GCA	p.V90A	BRCC3_uc011mzy.1_Missense_Mutation_p.V91A|BRCC3_uc011mzz.1_RNA|BRCC3_uc004fnb.2_Missense_Mutation_p.V90A	NM_024332	NP_077308	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	90					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(3)|ovary(1)|large_intestine(1)|breast(1)	6	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAGGACCGAGTAGAAATTTCT	0.448													C	154305518	T	C	154305518	3	2	48	1	0	0	0	0	1	0	0	0	1500	1638	57	3	283	3	BRCC3	23	154305518	Missense_Mutation	SNP	T	TCGA-BR-7703-01A-11D-2053-08	423910	154305518	965042	863	38880											
USP9Y	8287	broad.mit.edu	37	chrY	14951943	14951943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatatgggaccttacacaGtagcaggtgttgcaaacctg	12	8	0	0			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrY:14951943G>A	uc004fst.1	+	36	6436	c.5491G>A	c.(5491-5493)GTA>ATA	p.V1831I	USP9Y_uc010nwu.1_RNA	NM_004654	NP_004645	O00507	USP9Y_HUMAN	ubiquitin specific protease 9, Y-linked	1831					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						ACCTTACACAGTAGCAGGTGT	0.393													A	14951943	G	A	14951943	3	1	48	1	0	0	0	0	1	0	0	0	17088	1029	36	4	5625	4	USP9Y	24	14951943	Missense_Mutation	SNP	G	TCGA-BR-7703-01A-11D-2053-08		14951943	44421623	864	38881											
PLCH2	9651	broad.mit.edu	37	chr1	2430597	2430597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcgctggtccgcttcctcGtctgggaccacgatcccatc	10	17	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:2430597G>A	uc001aji.1	+	19	2783	c.2509G>A	c.(2509-2511)GTC>ATC	p.V837I	PLCH2_uc010nyz.1_Missense_Mutation_p.V625I|PLCH2_uc009vle.1_Missense_Mutation_p.V589I|PLCH2_uc001ajj.1_Missense_Mutation_p.V625I|PLCH2_uc001ajk.1_Missense_Mutation_p.V625I|PLCH2_uc001ajl.1_5'UTR	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	837	C2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CCGCTTCCTCGTCTGGGACCA	0.647													A	2430597	G	A	2430597	3	1	49	1	0	0	0	0	1	0	0	0	12038	1145	40	1	2583	1	PLCH2	1	2430597	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08		2430597	246820024	1	38882											
PRDM16	63976	broad.mit.edu	37	chr1	3102980	3102980	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatggaagccggggagaggcTgggcccctgcgtggtggtgc	21	9	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:3102980T>C	uc001akf.2	+	2	409	c.329T>C	c.(328-330)CTG>CCG	p.L110P	PRDM16_uc001akc.2_Missense_Mutation_p.L110P|PRDM16_uc001akd.2_Missense_Mutation_p.L110P|PRDM16_uc001ake.2_Missense_Mutation_p.L110P|PRDM16_uc009vlh.2_5'UTR	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	110	SET.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGGGAGAGGCTGGGCCCCTGC	0.637			T	EVI1	MDS|AML								C	3102980	T	C	3102980	3	2	49	1	0	0	0	0	1	0	0	0	12457	1580	55	3	335	3	PRDM16	1	3102980	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	672383	3102980	246147641	2	38883											
DFFB	1677	broad.mit.edu	37	chr1	3800085	3800085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagaatagaaaagaaacGcaccatcattcctacactgg	7	10	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:3800085G>A	uc001alc.2	+	7	1120	c.797G>A	c.(796-798)CGC>CAC	p.R266H	DFFB_uc001ale.2_RNA|DFFB_uc009vlp.2_RNA|DFFB_uc001alb.2_RNA|DFFB_uc010nzn.1_Missense_Mutation_p.R290H|DFFB_uc009vlq.2_RNA|DFFB_uc009vlr.2_Missense_Mutation_p.R217H|DFFB_uc001ald.2_Missense_Mutation_p.R202H	NM_004402	NP_004393	O76075	DFFB_HUMAN	DNA fragmentation factor, 40 kD, beta	266					apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GAAAAGAAACGCACCATCATT	0.433													A	3800085	G	A	3800085	3	1	49	1	0	0	0	0	1	0	0	0	4453	1087	38	1	823	1	DFFB	1	3800085	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	697105	3800085	245450536	3	38884											
CHD5	26038	broad.mit.edu	37	chr1	6188970	6188970	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctcctgcttggtcatggAccccgacttggagccgaggc	13	14	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:6188970A>G	uc001amb.1	-	23	3647	c.3547T>C	c.(3547-3549)TCC>CCC	p.S1183P	CHD5_uc001alz.1_Missense_Mutation_p.S40P|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1183	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTGGTCATGGACCCCGACTTG	0.657													G	6188970	A	G	6188970	3	3	49	1	0	0	0	0	1	0	0	0	3328	275	10	3	2393	3	CHD5	1	6188970	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	2388885	6188970	243061651	4	38885											
ESPN	83715	broad.mit.edu	37	chr1	6520165	6520165	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagctggcgccctggcagCgacaggtcatcctgaagaag	14	12	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:6520165C>T	uc001amy.2	+	13	2692	c.2524C>T	c.(2524-2526)CGA>TGA	p.R842*	ESPN_uc001amz.2_Nonsense_Mutation_p.R276*	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	espin	842					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding				0	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GCCCTGGCAGCGACAGGTCAT	0.657													T	6520165	C	T	6520165	4	4	49	1	0	0	0	0	0	1	0	0	5254	760	27	1	2574	1	ESPN	1	6520165	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	331195	6520165	242730456	5	38886											
NOL9	79707	broad.mit.edu	37	chr1	6589186	6589186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatagtatatgggtaggggCgacatcagagtgggtaatcc	14	5	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:6589186C>T	uc001ans.2	-	10	1712	c.1693G>A	c.(1693-1695)GCC>ACC	p.A565T	NOL9_uc010nzs.1_RNA	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	565					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			skin(1)	1	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGTAGGGGCGACATCAGAG	0.483													T	6589186	C	T	6589186	3	4	49	1	0	0	0	0	1	0	0	0	10528	768	27	1	427	1	NOL9	1	6589186	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	69021	6589186	242661435	6	38887											
TNFRSF9	3604	broad.mit.edu	37	chr1	7995165	7995165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccacgtccctctccttcGtcccattcacaagcacagac	5	18	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:7995165G>A	uc001aot.2	-	6	580	c.452C>T	c.(451-453)ACG>ATG	p.T151M		NM_001561	NP_001552	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily,	151	Extracellular (Potential).|TNFR-Cys 4.				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCTCCTTCGTCCCATTCAC	0.493													A	7995165	G	A	7995165	3	1	49	1	0	0	0	0	1	0	0	0	16297	1145	40	1	327	1	TNFRSF9	1	7995165	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1405979	7995165	241255456	7	38888											
TNFRSF9	3604	broad.mit.edu	37	chr1	7998254	7998254	+	Splice_Site	DEL	T	T	-													caaagaaacgcaaacgtaccTttttttgtcagttcttgacc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:7998253_7998253CT>C	uc001aot.3	-	5	607	c.346_splice	c.e5+1	p.G116_splice		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	116					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.G116S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GCAAACGTACCTTTTTTTGTC	0.408													-	7998254	T	-	7998254	8	5	49	1	0	1	0	1	0	0	1	0	16297	1623	56	0	442	0	TNFRSF9	1	7998254	Splice_Site	DEL	T	TCGA-BR-7707-01A-11D-2053-08	3089	7998254	241252367	8	38889											
RERE	473	broad.mit.edu	37	chr1	8420670	8420670	+	Frame_Shift_Del	DEL	G	G	-													tcaggggcttcagggctggaGggggaggcaggttggcattc					rs5772316		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:8420669_8420669AG>A	uc001ape.3	-	18	3708	c.2898_2898CT>T	c.(2896-2898)cctfs	p.P966fs	RERE_uc001apf.3_Frame_Shift_Del_p.P966fs|RERE_uc010nzx.1_Frame_Shift_Del_p.P698fs|RERE_uc001apd.3_Frame_Shift_Del_p.P412fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	966	Pro-rich.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TCAGGGCTGGAGGGGGAGGCA	0.682													-	8420670	G	-	8420670	7	5	49	1	0	1	0	1	0	0	0	0	13231	1000	35	0	1827	0	RERE	1	8420670	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	422416	8420670	240829951	9	38890											
MTHFR	4524	broad.mit.edu	37	chr1	11852364	11852364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaggtggtaattaacccGgagctcgtacttcttcagca	10	10	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:11852364G>A	uc001atc.1	-	10	1787	c.1603C>T	c.(1603-1605)CGG>TGG	p.R535W	MTHFR_uc001atb.1_Missense_Mutation_p.R558W	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	535					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	TAATTAACCCGGAGCTCGTAC	0.468													A	11852364	G	A	11852364	3	1	49	1	0	0	0	0	1	0	0	0	9931	1115	39	1	379	1	MTHFR	1	11852364	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	3431694	11852364	237398257	10	38891											
CLCN6	1185	broad.mit.edu	37	chr1	11898430	11898430	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctatgccgagatggcCgaggactacccgcggtaccc	11	16	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:11898430C>T	uc001ate.3	+	21	2447	c.2334C>T	c.(2332-2334)GCC>GCT	p.A778A	CLCN6_uc010oat.1_Silent_p.A494A|CLCN6_uc010oau.1_Silent_p.A756A|CLCN6_uc010oav.1_5'Flank|CLCN6_uc010oaw.1_5'Flank|CLCN6_uc010oax.1_5'Flank|CLCN6_uc010oay.1_5'Flank|CLCN6_uc010oaz.1_5'Flank|CLCN6_uc010oba.1_5'Flank	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	778	Cytoplasmic (By similarity).				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCGAGATGGCCGAGGACTACC	0.657											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	11898430	C	T	11898430	2	4	49	1	0	0	0	0	0	0	0	1	3467	639	23	1		1	CLCN6	1	11898430	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	46066	11898430	237352191	11	38892											
MFN2	9927	broad.mit.edu	37	chr1	12052705	12052705	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagtgagaggcatcagtgAggtgctggctcggaggcaca	16	8	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:12052705A>G	uc001atn.3	+	4	722	c.269A>G	c.(268-270)GAG>GGG	p.E90G	MFN2_uc009vni.2_Missense_Mutation_p.E90G	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	90	Cytoplasmic (Potential).				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GGCATCAGTGAGGTGCTGGCT	0.537													G	12052705	A	G	12052705	3	3	49	1	0	0	0	0	1	0	0	0	9524	304	11	3	275	3	MFN2	1	12052705	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	154275	12052705	237197916	12	38893											
SPEN	23013	broad.mit.edu	37	chr1	16260928	16260928	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaatgccgctgcgagtgcAgtgaatgccacagcaagtgc	13	11	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:16260928A>G	uc001axk.1	+	11	8397	c.8193A>G	c.(8191-8193)GCA>GCG	p.A2731A	SPEN_uc010obp.1_Silent_p.A2690A	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2731	Interaction with RBPSUH (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGCGAGTGCAGTGAATGCCA	0.597													G	16260928	A	G	16260928	2	3	49	1	0	0	0	0	0	0	0	1	15037	175	7	3		3	SPEN	1	16260928	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	4208223	16260928	232989693	13	38894											
ATP13A2	23400	broad.mit.edu	37	chr1	17318354	17318354	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtctccttccacagtgtccCtggagggtgggcagacctgg	15	12	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:17318354C>A	uc001baa.2	-	20	2317	c.2127_splice	c.e20-1	p.R709_splice	ATP13A2_uc001azz.1_5'Flank|ATP13A2_uc001bab.2_Splice_Site_p.R704_splice|ATP13A2_uc001bac.2_Splice_Site_p.R704_splice	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1						ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CACAGTGTCCCTGGAGGGTGG	0.632													A	17318354	C	A	17318354	5	1	49	1	0	0	0	0	0	0	1	0	1124	695	24	5	1692	5	ATP13A2	1	17318354	Splice_Site	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1057426	17318354	231932267	14	38895											
AKR7L	246181	broad.mit.edu	37	chr1	19595104	19595104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacatccaccggagggcggCcgaggtcatgctgggagcgc	17	12	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:19595104C>T	uc010ocx.1	-	7	796	c.796G>A	c.(796-798)GCC>ACC	p.A266T	AKR7L_uc010ocy.1_Missense_Mutation_p.G200D	NM_201252	NP_957704			aflatoxin B1 aldehyde reductase 3 isoform 1												0						CGGAGGGCGGCCGAGGTCATG	0.617													T	19595104	C	T	19595104	3	4	49	1	0	0	0	0	1	0	0	0	477	739	26	2	207	2	AKR7L	1	19595104	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2276750	19595104	229655517	15	38896											
HSPG2	3339	broad.mit.edu	37	chr1	22191813	22191813	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtagctcctcctctcagGgccctgcagcgctggctggg	13	16	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:22191813G>T	uc001bfj.2	-	35	4400	c.4360C>A	c.(4360-4362)CCT>ACT	p.P1454T	HSPG2_uc009vqd.2_Missense_Mutation_p.P1455T	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	1454	Laminin IV type A 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTCCTCTCAGGGCCCTGCAGC	0.632													T	22191813	G	T	22191813	3	4	49	1	0	0	0	0	1	0	0	0	7430	1232	43	5	9067	5	HSPG2	1	22191813	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2596709	22191813	227058808	16	38897											
EPHA8	2046	broad.mit.edu	37	chr1	22902838	22902838	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgagacggcgcccggcgCgtctatgctgagatcaagtt	13	14	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:22902838C>T	uc001bfx.1	+	3	413	c.288C>T	c.(286-288)CGC>CGT	p.R96R	EPHA8_uc001bfw.2_Silent_p.R96R	NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	96	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCGCCCGGCGCGTCTATGCTG	0.612													T	22902838	C	T	22902838	2	4	49	1	0	0	0	0	0	0	0	1	5173	755	27	1		1	EPHA8	1	22902838	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	711025	22902838	226347783	17	38898											
HNRNPR	10236	broad.mit.edu	37	chr1	23645142	23645142	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccccgattcttctttttgTcatcgggttgatgatagaga	9	9	3	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:23645142T>C	uc001bgr.3	-	8	1010	c.851A>G	c.(850-852)GAC>GGC	p.D284G	HNRNPR_uc001bgp.3_Missense_Mutation_p.D287G|HNRNPR_uc009vqk.2_Missense_Mutation_p.D186G|HNRNPR_uc001bgs.3_Missense_Mutation_p.D183G|HNRNPR_uc010odw.1_Missense_Mutation_p.D246G|HNRNPR_uc010odx.1_Missense_Mutation_p.D124G|HNRNPR_uc009vql.2_Missense_Mutation_p.D145G	NM_005826	NP_005817	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	284	RRM 2.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTTCTTTTTGTCATCGGGTTG	0.458													C	23645142	T	C	23645142	3	2	49	1	0	0	0	0	1	0	0	0	7272	1667	58	3	1066	3	HNRNPR	1	23645142	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	742304	23645142	225605479	18	38899											
SYF2	25949	broad.mit.edu	37	chr1	25549889	25549889	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcatcatcattataaggAcgtctccggctatatttgtc	7	10	4	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:25549889A>G	uc001bjt.1	-	7	655	c.600T>C	c.(598-600)CGT>CGC	p.R200R	SYF2_uc001bju.1_Silent_p.R158R	NM_015484	NP_056299	O95926	SYF2_HUMAN	SYF2 homolog, RNA splicing factor isoform 1	200						catalytic step 2 spliceosome					0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		CATTATAAGGACGTCTCCGGC	0.333													G	25549889	A	G	25549889	2	3	49	1	0	0	0	0	0	0	0	1	15434	262	10	3		3	SYF2	1	25549889	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1904747	25549889	223700732	19	38900											
CNKSR1	10256	broad.mit.edu	37	chr1	26515997	26515997	+	Frame_Shift_Del	DEL	C	C	-													gaagagcactcccatctctgCcccctgacctcagagagcag							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:26515996_26515996GC>G	uc001bln.4	+	20	2178	c.2120_2120GC>G	c.(2119-2121)tgcfs	p.C707fs	CNKSR1_uc001blm.4_Frame_Shift_Del_p.C700fs|CNKSR1_uc009vsd.3_Frame_Shift_Del_p.C442fs|CNKSR1_uc009vse.3_Frame_Shift_Del_p.C442fs|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	707					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCATCTCTGCCCCCTGACC	0.627													-	26515997	C	-	26515997	7	5	49	1	0	1	0	1	0	0	0	0	3606	747	26	0	2182	0	CNKSR1	1	26515997	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	966108	26515997	222734624	20	38901											
DHDDS	79947	broad.mit.edu	37	chr1	26759476	26759476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagctgtcactttgggagCggttctgtgccaacatcata	12	9	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:26759476C>T	uc001bml.2	+	2	161	c.40C>T	c.(40-42)CGG>TGG	p.R14W	DHDDS_uc001bmk.2_Missense_Mutation_p.R14W|DHDDS_uc001bmm.2_5'UTR|DHDDS_uc001bmn.2_Missense_Mutation_p.R14W|DHDDS_uc010ofd.1_Missense_Mutation_p.R14W	NM_205861	NP_995583	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase isoform b	14							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(3)	3		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		ACTTTGGGAGCGGTTCTGTGC	0.448													T	26759476	C	T	26759476	3	4	49	1	0	0	0	0	1	0	0	0	4478	759	27	1	42	1	DHDDS	1	26759476	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	243479	26759476	222491145	21	38902											
RPS6KA1	6195	broad.mit.edu	37	chr1	26883500	26883500	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtgcagaagctataccgTcgtgagatcaagccaccctt	9	12	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:26883500T>C	uc001bmr.1	+	13	1156	c.993T>C	c.(991-993)CGT>CGC	p.R331R	RPS6KA1_uc010ofe.1_Silent_p.R239R|RPS6KA1_uc010off.1_Silent_p.R315R|RPS6KA1_uc001bms.1_Silent_p.R340R|RPS6KA1_uc009vsl.1_Silent_p.R174R	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	331	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AGCTATACCGTCGTGAGATCA	0.602													C	26883500	T	C	26883500	2	2	49	1	0	0	0	0	0	0	0	1	13650	1654	58	3		3	RPS6KA1	1	26883500	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	124024	26883500	222367121	22	38903											
GPR3	2827	broad.mit.edu	37	chr1	27720612	27720612	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgctgtcttctgcatcGgctcagcggagatgagcctg	13	11	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:27720612G>T	uc001bod.2	+	2	405	c.310G>T	c.(310-312)GGC>TGC	p.G104C		NM_005281	NP_005272	P46089	GPR3_HUMAN	G protein-coupled receptor 3	104	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				ovary(1)	1		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		CTTCTGCATCGGCTCAGCGGA	0.637													T	27720612	G	T	27720612	3	4	49	1	0	0	0	0	1	0	0	0	6686	1116	39	5	312	5	GPR3	1	27720612	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	837112	27720612	221530009	23	38904											
EPB41	2035	broad.mit.edu	37	chr1	29379717	29379717	+	Frame_Shift_Del	DEL	A	A	-													gcgtcctagatgcctctgctAaaaaaacagtggtccctaaa							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:29379716_29379716TA>T	uc001brm.2	+	11	1864	c.1737_1737TA>T	c.(1735-1737)gctfs	p.A579fs	EPB41_uc001brg.2_Frame_Shift_Del_p.A370fs|EPB41_uc001brh.2_Frame_Shift_Del_p.A370fs|EPB41_uc001brj.2_Frame_Shift_Del_p.A370fs|EPB41_uc001bri.2_Frame_Shift_Del_p.A544fs|EPB41_uc009vtk.2_Frame_Shift_Del_p.A543fs|EPB41_uc001brk.3_Frame_Shift_Del_p.A579fs|EPB41_uc001brl.2_Frame_Shift_Del_p.A579fs|EPB41_uc021okg.1_Frame_Shift_Del_p.A579fs|EPB41_uc009vtm.2_Frame_Shift_Del_p.A212fs|EPB41_uc009vtl.2_Frame_Shift_Del_p.A370fs	NM_001166005	NP_001159477	P11171	41_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA.	579	Hydrophilic.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	Golgi apparatus|extrinsic to membrane|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ATGCCTCTGCTAAAAAAACAG	0.542													-	29379717	A	-	29379717	7	5	49	1	0	1	0	1	0	0	0	0	5151	363	13	0	1780	0	EPB41	1	29379717	Frame_Shift_Del	DEL	A	TCGA-BR-7707-01A-11D-2053-08	1659105	29379717	219870904	24	38905											
SPOCD1	90853	broad.mit.edu	37	chr1	32280324	32280324	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctccatttctttcttaccCtcacagggactgggtctggt	8	13	4	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:32280324C>A	uc001bts.1	-	2	669	c.611G>T	c.(610-612)AGG>ATG	p.R204M	SPOCD1_uc001btu.2_Missense_Mutation_p.R204M|SPOCD1_uc001btv.2_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	204					transcription, DNA-dependent					ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTTTCTTACCCTCACAGGGAC	0.577													A	32280324	C	A	32280324	3	1	49	1	0	0	0	0	1	0	0	0	15077	681	24	5	3099	5	SPOCD1	1	32280324	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2900607	32280324	216970297	25	38906											
LCK	3932	broad.mit.edu	37	chr1	32745341	32745341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaaactcctggacatggCagcccaagtaaggagactgg	11	11	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:32745341C>T	uc001bux.2	+	10	1172	c.1034C>T	c.(1033-1035)GCA>GTA	p.A345V	LCK_uc001buy.2_Missense_Mutation_p.A345V|LCK_uc001buz.2_Missense_Mutation_p.A375V|LCK_uc010ohc.1_Missense_Mutation_p.A389V|LCK_uc001bva.2_Missense_Mutation_p.A352V	NM_005356	NP_005347	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	345	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			lung(3)|central_nervous_system(2)|ovary(1)	6		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CTGGACATGGCAGCCCAAGTA	0.557			T	TRB@	T-ALL								T	32745341	C	T	32745341	3	4	49	1	0	0	0	0	1	0	0	0	8676	710	25	2	1068	2	LCK	1	32745341	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	465017	32745341	216505280	26	38907											
MARCKSL1	65108	broad.mit.edu	37	chr1	32800476	32800476	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccgatttctcttgaaggAcaggccgctcaatttgaaag	9	10	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:32800476A>G	uc001bvd.2	-	2	510	c.310T>C	c.(310-312)TCC>CCC	p.S104P		NM_023009	NP_075385	P49006	MRP_HUMAN	MARCKS-like 1	104						plasma membrane	calmodulin binding			ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTCTTGAAGGACAGGCCGCTC	0.572													G	32800476	A	G	32800476	3	3	49	1	0	0	0	0	1	0	0	0	9310	275	10	3	281	3	MARCKSL1	1	32800476	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	55135	32800476	216450145	27	38908											
TSSK3	81629	broad.mit.edu	37	chr1	32829722	32829722	+	Frame_Shift_Del	DEL	G	G	-													atgctgtggcagcagcagaaGggggtgtccttccccactca							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:32829721_32829721AG>A	uc001bvf.3	+	1	1112	c.671_671AG>A	c.(670-672)aagfs	p.K224fs	LOC100128071_uc021oku.1_5'Flank	NM_052841	NP_443073	Q96PN8	TSSK3_HUMAN	Homo sapiens testis-specific serine kinase 3 (TSSK3), mRNA.	224	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				CAGCAGCAGAAGGGGGTGTCC	0.562													-	32829722	G	-	32829722	7	5	49	1	0	1	0	1	0	0	0	0	16667	991	35	0	678	0	TSSK3	1	32829722	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	29246	32829722	216420899	28	38909											
TRIM62	55223	broad.mit.edu	37	chr1	33613190	33613190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcttcagaacccagcaccGacacctccacatcgaagcgc	8	17	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:33613190G>A	uc001bxb.2	-	5	1654	c.1016C>T	c.(1015-1017)TCG>TTG	p.S339L		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	339	B30.2/SPRY.					intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)				ACCCAGCACCGACACCTCCAC	0.617													A	33613190	G	A	33613190	3	1	49	1	0	0	0	0	1	0	0	0	16534	1059	37	1	415	1	TRIM62	1	33613190	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	783468	33613190	215637431	29	38910											
TRIM62	55223	broad.mit.edu	37	chr1	33625397	33625397	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcgcagctgctggctgTagcgctggactttctgctcg	13	13	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:33625397T>C	uc001bxb.2	-	3	1291	c.653A>G	c.(652-654)TAC>TGC	p.Y218C		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	218	Potential.					intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)				CTGCTGGCTGTAGCGCTGGAC	0.667													C	33625397	T	C	33625397	3	2	49	1	0	0	0	0	1	0	0	0	16534	1638	57	3	786	3	TRIM62	1	33625397	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	12207	33625397	215625224	30	38911											
CSMD2	114784	broad.mit.edu	37	chr1	34011774	34011774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtcccccaaacggatgCcatgagccgggatcccaggg	13	14	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:34011774C>T	uc001bxn.1	-	56	8560	c.8531G>A	c.(8530-8532)GGC>GAC	p.G2844D	CSMD2_uc001bxm.1_Missense_Mutation_p.G2988D	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2844	Extracellular (Potential).|Sushi 20.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAAACGGATGCCATGAGCCGG	0.572													T	34011774	C	T	34011774	3	4	49	1	0	0	0	0	1	0	0	0	3945	739	26	2	1988	2	CSMD2	1	34011774	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	386377	34011774	215238847	31	38912											
ZMYM4	9202	broad.mit.edu	37	chr1	35873680	35873680	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagtttgggcttatgccagTttatccaagaggtgcggaga	14	6	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:35873680T>C	uc001byt.2	+	26	3948	c.3868T>C	c.(3868-3870)TTT>CTT	p.F1290L	ZMYM4_uc009vuu.2_Missense_Mutation_p.F1258L|ZMYM4_uc001byu.2_Missense_Mutation_p.F966L|ZMYM4_uc009vuv.2_Missense_Mutation_p.F1029L	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	1290					multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTATGCCAGTTTATCCAAGA	0.393													C	35873680	T	C	35873680	3	2	49	1	0	0	0	0	1	0	0	0	17699	1725	60	3	3970	3	ZMYM4	1	35873680	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1861906	35873680	213376941	32	38913											
GRIK3	2899	broad.mit.edu	37	chr1	37285345	37285346	+	Frame_Shift_Ins	INS	-	-	A													agggtgcataccttgctgcaINStcagggatcccattccaaac							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:37285344_37285345C>CA	uc001caz.2	-	11	2000_2001	c.1865_1866G>TG	c.(1864-1866)atgfs	p.M622fs	GRIK3_uc001cba.1_Frame_Shift_Ins_p.M622fs	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	622					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TACCTTGCTGCATCAGGGATCC	0.564													A	37285346	-	A	37285345	7	5	49	1	0	1	1	0	0	0	0	0	6775	217	8	0	914	0	GRIK3	1	37285345	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	1411665	37285345	211965276	33	38914											
ZC3H12A	80149	broad.mit.edu	37	chr1	37947230	37947231	+	Frame_Shift_Ins	INS	-	-	A													tcctgcgggaactggagaagINSaagaagatcctggtgttcac							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:37947230_37947231insA	uc001cbb.3	+	4	762_763	c.612_613insA	c.(610-615)AAGAAGfs	p.K204fs	ZC3H12A_uc001cbc.1_5'UTR	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	204_205					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AACTGGAGAAGAAGAAGATCCT	0.604													A	37947231	-	A	37947230	7	5	49	1	0	1	1	0	0	0	0	0	17558	933	33	0	622	0	ZC3H12A	1	37947230	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	661885	37947230	211303391	34	38915	128	2									
ZC3H12A	80149	broad.mit.edu	37	chr1	37947231	37947232	+	Frame_Shift_Ins	INS	-	-	A													cctgcgggaactggagaagaINSagaagatcctggtgttcaca							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:37947230_37947231G>GA	uc001cbb.4	+	3	762_763	c.612_613G>GA	c.(610-615)aagaagfs	p.K204fs	ZC3H12A_uc001cbc.1_5'UTR	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	204					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AACTGGAGAAGAAGAAGATCCT	0.604													A	37947232	-	A	37947231	7	5	49	1	0	1	1	0	0	0	0	0	17558	247	9	0	623	0	ZC3H12A	1	37947231	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	1	37947231	211303390	35	38916	128	2									
ZC3H12A	80149	broad.mit.edu	37	chr1	37948555	37948555	+	Frame_Shift_Del	DEL	G	G	-													agcctggatgggaagaagctGggggcccaggcatccccagg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:37948555delG	uc001cbb.3	+	6	1293	c.1143delG	c.(1141-1143)CTGfs	p.L381fs	ZC3H12A_uc001cbc.1_Frame_Shift_Del_p.L176fs	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	381					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGAAGAAGCTGGGGGCCCAGG	0.627													-	37948555	G	-	37948555	7	5	49	1	0	1	0	1	0	0	0	0	17558	1335	47	0	1161	0	ZC3H12A	1	37948555	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	1324	37948555	211302066	36	38917											
MTF1	4520	broad.mit.edu	37	chr1	38305654	38305654	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactcaaatggcttctccttCgtgtgcactcgcacgtggat	9	13	2	0	rs143831879		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:38305654C>T	uc001cce.1	-	3	726	c.585G>A	c.(583-585)ACG>ACA	p.T195T	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	195						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCTTCTCCTTCGTGTGCACTC	0.537													T	38305654	C	T	38305654	2	4	49	1	0	0	0	0	0	0	0	1	9922	871	31	1		1	MTF1	1	38305654	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	357099	38305654	210944967	37	38918											
MFSD2A	84879	broad.mit.edu	37	chr1	40430970	40430970	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggccagacctattggtaCctgcttttctattgcctctt	7	13	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:40430970C>T	uc001cev.2	+	4	661	c.480C>T	c.(478-480)TAC>TAT	p.Y160Y	MFSD2A_uc010ojb.1_Silent_p.Y110Y|MFSD2A_uc001ceu.2_Silent_p.Y147Y|MFSD2A_uc010ojc.1_5'UTR|MFSD2A_uc009vvy.2_RNA|MFSD2A_uc001cex.2_5'Flank	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing	160					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)|pancreas(1)	2						CCTATTGGTACCTGCTTTTCT	0.587													T	40430970	C	T	40430970	2	4	49	1	0	0	0	0	0	0	0	1	9530	518	18	4		4	MFSD2A	1	40430970	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2125316	40430970	208819651	38	38919											
CAP1	10487	broad.mit.edu	37	chr1	40529914	40529914	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctagaataagctttccgatTtgttggcacccatctcagag	8	11	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:40529914T>A	uc001cfa.3	+	5	539	c.310T>A	c.(310-312)TTG>ATG	p.L104M	CAP1_uc001cey.3_Missense_Mutation_p.L104M|CAP1_uc001cez.3_Missense_Mutation_p.L104M|CAP1_uc009vvz.2_Missense_Mutation_p.L104M|CAP1_uc010oje.1_Intron	NM_006367	NP_006358	Q01518	CAP1_HUMAN	adenylyl cyclase-associated protein	104					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			ovary(1)	1	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCTTTCCGATTTGTTGGCACC	0.428													A	40529914	T	A	40529914	3	1	49	1	0	0	0	0	1	0	0	0	2619	1838	64	5	324	5	CAP1	1	40529914	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	98944	40529914	208720707	39	38920											
PPT1	5538	broad.mit.edu	37	chr1	40546070	40546070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccggtttgggtgcttaccCgctcctgatttatatctgcc	10	13	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:40546070C>T	uc001cfb.2	-	6	858	c.626G>A	c.(625-627)CGG>CAG	p.R209Q	PPT1_uc010ojf.1_Missense_Mutation_p.R159Q|PPT1_uc010ojg.1_Missense_Mutation_p.R106Q|PPT1_uc009vwa.2_RNA	NM_000310	NP_000301	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1 isoform 1	209					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity	p.R209Q(1)		ovary(1)	1	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGTGCTTACCCGCTCCTGATT	0.478													T	40546070	C	T	40546070	3	4	49	1	0	0	0	0	1	0	0	0	12411	666	23	1	310	1	PPT1	1	40546070	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	16156	40546070	208704551	40	38921											
PPT1	5538	broad.mit.edu	37	chr1	40555088	40555088	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaaccatacataccgttccTgaacaactttggagtacgcc	6	13	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:40555088T>C	uc001cfb.2	-	5	762	c.530A>G	c.(529-531)CAG>CGG	p.Q177R	PPT1_uc010ojf.1_Missense_Mutation_p.Q127R|PPT1_uc010ojg.1_Missense_Mutation_p.Q74R|PPT1_uc009vwa.2_RNA	NM_000310	NP_000301	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1 isoform 1	177			Q -> E (in CLN1).		brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			ovary(1)	1	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATACCGTTCCTGAACAACTTT	0.463													C	40555088	T	C	40555088	3	2	49	1	0	0	0	0	1	0	0	0	12411	1580	55	3	410	3	PPT1	1	40555088	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	9018	40555088	208695533	41	38922											
ZNF642	339559	broad.mit.edu	37	chr1	40945120	40945120	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaggccgtggagggggcGcccctgtgggaggatgtgac	20	8	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:40945120G>A	uc001cfo.2	+	2	381	c.87G>A	c.(85-87)GCG>GCA	p.A29A	ZNF642_uc009vwb.2_Silent_p.A29A|ZNF642_uc010ojk.1_Silent_p.A29A	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	zinc finger protein 642	29	SCAN box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			TGGAGGGGGCGCCCCTGTGGG	0.547													A	40945120	G	A	40945120	2	1	49	1	0	0	0	0	0	0	0	1	18055	1074	38	1		1	ZNF642	1	40945120	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	390032	40945120	208305501	42	38923											
FOXJ3	22887	broad.mit.edu	37	chr1	42645440	42645440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctggaggcagggaacgccGcatctggaaggcttgggaag	17	8	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:42645440G>A	uc001che.2	-	15	2122	c.1810C>T	c.(1810-1812)CGG>TGG	p.R604W	FOXJ3_uc001chf.2_Missense_Mutation_p.R604W|FOXJ3_uc001chg.2_Missense_Mutation_p.R604W	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	604					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)	2	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGGAACGCCGCATCTGGAAG	0.507													A	42645440	G	A	42645440	3	1	49	1	0	0	0	0	1	0	0	0	6013	1086	38	1	62	1	FOXJ3	1	42645440	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1700320	42645440	206605181	43	38924											
EBNA1BP2	10969	broad.mit.edu	37	chr1	43636531	43636531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtaagactgcaagcactgCggcctgggcttggcgatagc	16	10	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:43636531C>T	uc001cin.2	-	4	540	c.343G>A	c.(343-345)GCA>ACA	p.A115T	EBNA1BP2_uc001cio.2_Missense_Mutation_p.A170T|WDR65_uc010ojz.1_5'Flank|WDR65_uc001cip.1_5'Flank|WDR65_uc001ciq.1_5'Flank|EBNA1BP2_uc001cim.2_Missense_Mutation_p.A10T|EBNA1BP2_uc010ojx.1_Missense_Mutation_p.A170T	NM_006824	NP_006815	Q99848	EBP2_HUMAN	EBNA1 binding protein 2 isoform 2	115					ribosome biogenesis	membrane fraction|nucleolus	protein binding				0	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCAAGCACTGCGGCCTGGGCT	0.507													T	43636531	C	T	43636531	3	4	49	1	0	0	0	0	1	0	0	0	4885	768	27	1	601	1	EBNA1BP2	1	43636531	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	991091	43636531	205614090	44	38925											
ZSWIM5	57643	broad.mit.edu	37	chr1	45484249	45484249	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcaggaaggtctcccgAgccttgcttagaaactcaat	11	11	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:45484249A>G	uc001cnd.2	-	14	3663	c.3435T>C	c.(3433-3435)GCT>GCC	p.A1145A		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	1145							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					AGGTCTCCCGAGCCTTGCTTA	0.502											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	45484249	A	G	45484249	2	3	49	1	0	0	0	0	0	0	0	1	18241	291	11	3		3	ZSWIM5	1	45484249	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1847718	45484249	203766372	45	38926											
MUTYH	4595	broad.mit.edu	37	chr1	45797709	45797709	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcaccacactcctccacgTcaggactgcccgacaggctc	8	19	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:45797709T>C	uc001cnm.2	-	11	1190	c.974A>G	c.(973-975)GAC>GGC	p.D325G	MUTYH_uc009vxn.2_Missense_Mutation_p.D150G|MUTYH_uc001cnf.2_Missense_Mutation_p.D300G|MUTYH_uc009vxo.2_Missense_Mutation_p.D300G|MUTYH_uc001cng.2_Missense_Mutation_p.D311G|MUTYH_uc001cnj.2_Missense_Mutation_p.D208G|MUTYH_uc001cni.2_Missense_Mutation_p.D300G|MUTYH_uc001cnh.2_Missense_Mutation_p.D301G|MUTYH_uc001cno.2_Missense_Mutation_p.D208G|MUTYH_uc001cnk.2_Missense_Mutation_p.D185G|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Missense_Mutation_p.D314G|MUTYH_uc009vxp.2_Missense_Mutation_p.D328G|MUTYH_uc001cnn.2_Missense_Mutation_p.D315G	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	mutY homolog isoform 1	325					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding				0	Acute lymphoblastic leukemia(166;0.155)					CTCCTCCACGTCAGGACTGCC	0.572			Mis			colorectal		BER_DNA_glycosylases	MUTYH-associated_polyposis				C	45797709	T	C	45797709	3	2	49	1	0	0	0	0	1	0	0	0	9993	1667	58	3	690	3	MUTYH	1	45797709	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	313460	45797709	203452912	46	38927											
AKR1A1	10327	broad.mit.edu	37	chr1	46033700	46033700	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgctgatgggactatatgcTacgactccacccactacaag	8	12	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:46033700T>C	uc001cod.2	+	6	867	c.403T>C	c.(403-405)TAC>CAC	p.Y135H	AKR1A1_uc009vxw.2_3'UTR|AKR1A1_uc001coe.2_Missense_Mutation_p.Y135H|AKR1A1_uc001cof.2_Silent_p.A7A|AKR1A1_uc001cog.2_RNA	NM_006066	NP_006057	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1	135					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					GACTATATGCTACGACTCCAC	0.582													C	46033700	T	C	46033700	3	2	49	1	0	0	0	0	1	0	0	0	465	1522	53	3	417	3	AKR1A1	1	46033700	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	235991	46033700	203216921	47	38928											
DMBX1	127343	broad.mit.edu	37	chr1	46977911	46977911	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccctgctgctgcagcggcGgctgctgctgtgccctacct	13	17	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:46977911G>T	uc001cpx.2	+	4	909	c.894G>T	c.(892-894)GCG>GCT	p.A298A	DMBX1_uc001cpw.2_Silent_p.A293A	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1 isoform b	298					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CTGCAGCGGCGGCTGCTGCTG	0.662													T	46977911	G	T	46977911	2	4	49	1	0	0	0	0	0	0	0	1	4578	1103	39	5		5	DMBX1	1	46977911	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	944211	46977911	202272710	48	38929											
CYP4X1	260293	broad.mit.edu	37	chr1	47512210	47512210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgattgattcctgcagtccCgtccatttccagagatctca	7	14	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:47512210C>T	uc001cqt.2	+	9	1395	c.1145C>T	c.(1144-1146)CCG>CTG	p.P382L	CYP4X1_uc001cqr.2_Missense_Mutation_p.P381L|CYP4X1_uc001cqs.2_Missense_Mutation_p.P317L	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X,	382						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2						CCTGCAGTCCCGTCCATTTCC	0.512													T	47512210	C	T	47512210	3	4	49	1	0	0	0	0	1	0	0	0	4193	652	23	1	1179	1	CYP4X1	1	47512210	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	534299	47512210	201738411	49	38930											
TAL1	6886	broad.mit.edu	37	chr1	47691475	47691476	+	Frame_Shift_Ins	INS	-	-	G													gttcagcaggaccaggtgcgINSggggggccatgctggcctcg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:47691474_47691475C>CG	uc001cqx.2	-	1	663_664	c.86_87G>CG	c.(85-87)ccgfs	p.P29fs	TAL1_uc009vyq.2_5'Flank|TAL1_uc001cqy.2_Frame_Shift_Ins_p.P29fs|TAL1_uc001cra.1_Intron|TAL1_uc001cqz.1_Intron	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	29					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GGACCAGGTGCGGGGGGGCCAT	0.762			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic								G	47691476	-	G	47691475	7	5	49	1	0	1	1	0	0	0	0	0	15538	1116	39	0	921	0	TAL1	1	47691475	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	179265	47691475	201559146	50	38931											
ZFYVE9	9372	broad.mit.edu	37	chr1	52805802	52805802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgcctctattttagtgtcGtaagtcctatagatgggaag	10	6	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:52805802G>A	uc001cto.2	+	17	4010	c.3838G>A	c.(3838-3840)GTA>ATA	p.V1280I	ZFYVE9_uc001ctp.2_Missense_Mutation_p.V1221I	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	1280					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						TTTTAGTGTCGTAAGTCCTAT	0.368													A	52805802	G	A	52805802	3	1	49	1	0	0	0	0	1	0	0	0	17668	1145	40	1	3907	1	ZFYVE9	1	52805802	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	5114327	52805802	196444819	51	38932											
ZCCHC11	23318	broad.mit.edu	37	chr1	52940630	52940630	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaggtagcagatgtgtcGgtgcacacactctgatgtga	13	8	1	4	rs150767107	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:52940630G>A	uc001ctx.2	-	13	2835	c.2601C>T	c.(2599-2601)ACC>ACT	p.T867T	ZCCHC11_uc001cty.2_Silent_p.T867T|ZCCHC11_uc001ctz.2_Silent_p.T867T|ZCCHC11_uc009vze.1_Silent_p.T867T|ZCCHC11_uc009vzf.1_Silent_p.T626T|ZCCHC11_uc001cub.2_Silent_p.T867T	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	867					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						CAGATGTGTCGGTGCACACAC	0.423													A	52940630	G	A	52940630	2	1	49	1	0	0	0	0	0	0	0	1	17577	1103	39	1		1	ZCCHC11	1	52940630	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	134828	52940630	196309991	52	38933											
ZYG11B	79699	broad.mit.edu	37	chr1	53237431	53237431	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactctgaattcctcacaggCgaaggacatttgaaggttag	10	8	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:53237431C>T	uc001cuj.2	+	3	1131	c.936C>T	c.(934-936)GGC>GGT	p.G312G	ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Silent_p.G303G	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	312							protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						TCCTCACAGGCGAAGGACATT	0.373													T	53237431	C	T	53237431	2	4	49	1	0	0	0	0	0	0	0	1	18250	755	27	1		1	ZYG11B	1	53237431	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	296801	53237431	196013190	53	38934											
TMEM59	9528	broad.mit.edu	37	chr1	54509118	54509118	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggttatgaagctctgtgcGgagtccatcatgtcactcca	11	10	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:54509118G>A	uc001cwp.2	-	4	721	c.471C>T	c.(469-471)TCC>TCT	p.S157S	TMEM59_uc001cwn.2_Silent_p.S20S|TMEM59_uc001cwo.2_Silent_p.S20S|TMEM59_uc001cwq.2_Silent_p.S157S|TMEM59_uc001cwr.2_Silent_p.S90S|TMEM59_uc001cws.1_Silent_p.S168S	NM_004872	NP_004863	Q9BXS4	TMM59_HUMAN	thymic dendritic cell-derived factor 1	157	Extracellular (Potential).					Golgi membrane|integral to membrane					0						AGCTCTGTGCGGAGTCCATCA	0.393													A	54509118	G	A	54509118	2	1	49	1	0	0	0	0	0	0	0	1	16182	1103	39	1		1	TMEM59	1	54509118	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1271687	54509118	194741503	54	38935											
ACOT11	26027	broad.mit.edu	37	chr1	55064971	55064971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacccctgcctcctcagccGgctctgccgtgcccacccta	7	23	2	0	rs141264387		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:55064971G>A	uc001cxm.1	+	8	849	c.767G>A	c.(766-768)CGG>CAG	p.R256Q	ACOT11_uc001cxj.1_Missense_Mutation_p.R134Q|ACOT11_uc001cxl.1_Missense_Mutation_p.R256Q	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	thioesterase, adipose associated isoform BFIT1	256	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1						CTCCTCAGCCGGCTCTGCCGT	0.527													A	55064971	G	A	55064971	3	1	49	1	0	0	0	0	1	0	0	0	149	1116	39	1	797	1	ACOT11	1	55064971	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	555853	55064971	194185650	55	38936											
ACOT11	26027	broad.mit.edu	37	chr1	55073633	55073633	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggacccctatgtcatcgcGctgaggtcggtcacgctgcc	13	14	2	1	rs142120798		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:55073633G>A	uc001cxm.1	+	15	1603	c.1521G>A	c.(1519-1521)GCG>GCA	p.A507A	ACOT11_uc001cxj.1_Silent_p.A385A|ACOT11_uc001cxl.1_Silent_p.A507A	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	thioesterase, adipose associated isoform BFIT1	507	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1						ATGTCATCGCGCTGAGGTCGG	0.637													A	55073633	G	A	55073633	2	1	49	1	0	0	0	0	0	0	0	1	149	1074	38	1		1	ACOT11	1	55073633	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	8662	55073633	194176988	56	38937											
C8B	732	broad.mit.edu	37	chr1	57395224	57395224	+	Frame_Shift_Del	DEL	G	G	-													caattccacttcccatcaatGggggtatctataagaaagaa							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:57395223_57395223TG>T	uc001cyp.3	-	11	1697	c.1630_1630CA>A	c.(1630-1632)attfs	p.I544fs	C8B_uc010oon.2_Frame_Shift_Del_p.I482fs|C8B_uc010ooo.2_Frame_Shift_Del_p.I492fs	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	544					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.P543L(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TTCCCATCAATGGGGGTATCT	0.443													-	57395224	G	-	57395224	7	5	49	1	0	1	0	1	0	0	0	0	2417	1335	47	0	150	0	C8B	1	57395224	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	2321591	57395224	191855397	57	38938											
FGGY	55277	broad.mit.edu	37	chr1	59812011	59812011	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcacagtgtcctccagTacgtcgggggggtgatgtct	14	11	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:59812011T>C	uc001czi.3	+	4	618	c.406T>C	c.(406-408)TAC>CAC	p.Y136H	FGGY_uc001czg.2_Missense_Mutation_p.Y24H|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.Y136H|FGGY_uc001czj.3_Missense_Mutation_p.Y136H|FGGY_uc001czk.3_Missense_Mutation_p.Y24H|FGGY_uc001czl.3_Intron	NM_018291	NP_060761	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	136					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(1)	1	all_cancers(7;7.36e-05)					TGTCCTCCAGTACGTCGGGGG	0.507													C	59812011	T	C	59812011	3	2	49	1	0	0	0	0	1	0	0	0	5871	1638	57	3	416	3	FGGY	1	59812011	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	2416787	59812011	189438610	58	38939											
KANK4	163782	broad.mit.edu	37	chr1	62740528	62740528	+	Frame_Shift_Del	DEL	G	G	-													tttggaggggcggggctgcaGgggggcgagccccactgtca							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:62740527_62740527AG>A	uc001dah.4	-	2	626	c.249_249CT>T	c.(247-249)cctfs	p.P83fs	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	83								p.P83S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCGGGGCTGCAGGGGGGCGAG	0.582													-	62740528	G	-	62740528	7	5	49	1	0	1	0	1	0	0	0	0	7979	1000	35	0	2771	0	KANK4	1	62740528	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	2928517	62740528	186510093	59	38940											
ANGPTL3	27329	broad.mit.edu	37	chr1	63064448	63064448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataaacaattaaaccaacagCatagtcaaataaaagaaata	3	6	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:63064448C>A	uc001das.1	+	2	628	c.577C>A	c.(577-579)CAT>AAT	p.H193N	DOCK7_uc001dan.2_Intron|DOCK7_uc001dao.2_Intron|DOCK7_uc001dap.2_Intron|DOCK7_uc001daq.2_Intron|DOCK7_uc009wah.1_Intron	NM_014495	NP_055310	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3 precursor	193	Potential.				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity				0						AAACCAACAGCATAGTCAAAT	0.328													A	63064448	C	A	63064448	3	1	49	1	0	0	0	0	1	0	0	0	615	710	25	5	583	5	ANGPTL3	1	63064448	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	323920	63064448	186186173	60	38941											
ITGB3BP	23421	broad.mit.edu	37	chr1	63920100	63920100	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttaagaaatgtgatgcacaGgagattccaatgagattttc	9	5	0	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:63920100G>T	uc001dba.1	-	6	409	c.378C>A	c.(376-378)TCC>TCA	p.S126S	ITGB3BP_uc001dbb.1_Silent_p.S165S|ITGB3BP_uc001dbc.1_RNA|ITGB3BP_uc001dbd.1_RNA|ITGB3BP_uc009wak.1_Silent_p.S148S|ITGB3BP_uc001dbe.1_Silent_p.S39S	NM_014288	NP_055103	Q13352	CENPR_HUMAN	integrin beta 3 binding protein	126					apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity				0						GTGATGCACAGGAGATTCCAA	0.333													T	63920100	G	T	63920100	2	4	49	1	0	0	0	0	0	0	0	1	7896	987	35	5		5	ITGB3BP	1	63920100	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	855652	63920100	185330521	61	38942											
ROR1	4919	broad.mit.edu	37	chr1	64624767	64624767	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactcttcttcttcatttgCgtctgtcggaataaccagaa	6	10	5	1	rs149862457	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:64624767C>T	uc001dbj.2	+	8	1677	c.1278C>T	c.(1276-1278)TGC>TGT	p.C426C	uc001dbl.2_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	426	Helical; (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						TCTTCATTTGCGTCTGTCGGA	0.443													T	64624767	C	T	64624767	2	4	49	1	0	0	0	0	0	0	0	1	13526	776	27	1		1	ROR1	1	64624767	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	704667	64624767	184625854	62	38943											
JAK1	3716	broad.mit.edu	37	chr1	65310493	65310493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgagcttgatgaatgggCcacactcactgtcgatgccc	10	13	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:65310493C>T	uc001dbu.1	-	16	2444	c.2195G>A	c.(2194-2196)GGC>GAC	p.G732D	JAK1_uc009wam.1_Missense_Mutation_p.G720D|JAK1_uc009wal.1_5'UTR	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	732	Protein kinase 1.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GATGAATGGGCCACACTCACT	0.562			Mis		ALL								T	65310493	C	T	65310493	3	4	49	1	0	0	0	0	1	0	0	0	7937	739	26	2	1309	2	JAK1	1	65310493	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	685726	65310493	183940128	63	38944											
JAK1	3716	broad.mit.edu	37	chr1	65310571	65310571	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catggaccaggtctttatccTcctgcagagtaaaaaggtca	9	10	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:65310571T>G	uc001dbu.1	-	16	2366	c.2117A>C	c.(2116-2118)GAG>GCG	p.E706A	JAK1_uc009wam.1_Missense_Mutation_p.E694A|JAK1_uc009wal.1_5'UTR	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	706	Protein kinase 1.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GTCTTTATCCTCCTGCAGAGT	0.502			Mis		ALL								G	65310571	T	G	65310571	3	3	49	1	0	0	0	0	1	0	0	0	7937	1565	54	5	1387	5	JAK1	1	65310571	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	78	65310571	183940050	64	38945											
LRRC7	57554	broad.mit.edu	37	chr1	70488956	70488956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagaatgacccacagctgGcatggggttgtataagtggc	13	10	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:70488956G>A	uc001dep.2	+	15	1609	c.1579G>A	c.(1579-1581)GCA>ACA	p.A527T	LRRC7_uc009wbg.2_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	527						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						CCCACAGCTGGCATGGGGTTG	0.552													A	70488956	G	A	70488956	3	1	49	1	0	0	0	0	1	0	0	0	9020	1203	42	2	1637	2	LRRC7	1	70488956	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	5178385	70488956	178761665	65	38946											
TNNI3K	51086	broad.mit.edu	37	chr1	74716398	74716398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttatgttgaaagggctccGcccatctcgactgacaagaa	9	11	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:74716398G>A	uc001dgf.1	+	4	329	c.278G>A	c.(277-279)CGC>CAC	p.R93H	TNNI3K_uc001dgc.1_Missense_Mutation_p.R194H|TNNI3K_uc001dgd.2_Missense_Mutation_p.R194H|TNNI3K_uc001dge.1_Missense_Mutation_p.R194H	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	93	ANK 1.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						AAAGGGCTCCGCCCATCTCGA	0.398													A	74716398	G	A	74716398	3	1	49	1	0	0	0	0	1	0	0	0	16326	1087	38	1	647	1	TNNI3K	1	74716398	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4227442	74716398	174534223	66	38947											
NEXN	91624	broad.mit.edu	37	chr1	78392295	78392295	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgtctttcattagttaTggtaaatttttgtttgtttg	8	2	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:78392295T>C	uc001dic.3	+	7	983	c.686T>C	c.(685-687)ATG>ACG	p.M229T	NEXN_uc001dia.3_Missense_Mutation_p.M215T|NEXN_uc009wcb.1_Missense_Mutation_p.M151T|NEXN_uc001dib.3_Missense_Mutation_p.M165T|NEXN_uc001did.1_Missense_Mutation_p.M139T|NEXN_uc001dif.1_Missense_Mutation_p.M121T	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	229	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			ovary(2)	2				Colorectal(170;0.114)		TCATTAGTTATGGTAAATTTT	0.328													C	78392295	T	C	78392295	3	2	49	1	0	0	0	0	1	0	0	0	10355	1478	51	3	708	3	NEXN	1	78392295	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	3675897	78392295	170858326	67	38948											
IFI44L	10964	broad.mit.edu	37	chr1	79107475	79107475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggtgcaattgagagagCgttacagccctgcatttgag	12	8	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:79107475C>T	uc010oro.1	+	9	1519	c.1340C>T	c.(1339-1341)GCG>GTG	p.A447V	IFI44L_uc010orp.1_Missense_Mutation_p.A184V|IFI44L_uc010orq.1_Missense_Mutation_p.A184V	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	447						cytoplasm					0						ATTGAGAGAGCGTTACAGCCC	0.468													T	79107475	C	T	79107475	3	4	49	1	0	0	0	0	1	0	0	0	7518	768	27	1	1370	1	IFI44L	1	79107475	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	715180	79107475	170143146	68	38949											
ELTD1	64123	broad.mit.edu	37	chr1	79356867	79356867	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacatccaaaacaacaggggAcatttttgaacaatctgtaa	6	8	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:79356867A>T	uc001diq.3	-	15	2201	c.2045T>A	c.(2044-2046)GTC>GAC	p.V682D		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	682	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ACAACAGGGGACATTTTTGAA	0.274													T	79356867	A	T	79356867	3	4	49	1	0	0	0	0	1	0	0	0	5084	275	10	5	31	5	ELTD1	1	79356867	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	249392	79356867	169893754	69	38950											
WDR63	126820	broad.mit.edu	37	chr1	85560140	85560140	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctgtgtcggtagccgtgCgactttcttttgaagacaga	12	8	1	3	rs141494762	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:85560140C>T	uc001dkt.2	+	10	1266	c.1075C>T	c.(1075-1077)CGA>TGA	p.R359*	WDR63_uc009wcl.2_Nonsense_Mutation_p.R320*	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	359										upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GGTAGCCGTGCGACTTTCTTT	0.418													T	85560140	C	T	85560140	4	4	49	1	0	0	0	0	0	1	0	0	17311	760	27	1	1109	1	WDR63	1	85560140	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	6203273	85560140	163690481	70	38951											
CYR61	3491	broad.mit.edu	37	chr1	86047684	86047684	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtttccagcccaactgTaaacatcagtgcacatgtat	7	10	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:86047684T>C	uc001dle.2	+	3	575	c.351T>C	c.(349-351)TGT>TGC	p.C117C	CYR61_uc001dlg.2_5'UTR|CYR61_uc009wcp.1_5'Flank	NM_001554	NP_001545	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61 precursor	117	VWFC.				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)	1				all cancers(265;0.0216)|Epithelial(280;0.0441)		AGCCCAACTGTAAACATCAGT	0.512											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	86047684	T	C	86047684	2	2	49	1	0	0	0	0	0	0	0	1	4199	1644	57	3		3	CYR61	1	86047684	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	487544	86047684	163202937	71	38952											
GBP1	2633	broad.mit.edu	37	chr1	89525072	89525072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgctgctcaggaggacgGccagggcgaagatccaggag	18	9	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:89525072G>A	uc001dmx.2	-	4	576	c.356C>T	c.(355-357)GCC>GTC	p.A119V		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	119					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CAGGAGGACGGCCAGGGCGAA	0.507													A	89525072	G	A	89525072	3	1	49	1	0	0	0	0	1	0	0	0	6273	1203	42	2	1454	2	GBP1	1	89525072	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	3477388	89525072	159725549	72	38953											
SLC44A3	126969	broad.mit.edu	37	chr1	95323005	95323005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactagtgaattcatccttgCgtgccagcaaatgactatag	9	9	1	2	rs148388726		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:95323005C>T	uc001dqv.3	+	10	1294	c.1187C>T	c.(1186-1188)GCG>GTG	p.A396V	SLC44A3_uc001dqx.3_Missense_Mutation_p.A396V|SLC44A3_uc010otq.1_Missense_Mutation_p.A328V|SLC44A3_uc010otr.1_Missense_Mutation_p.A360V|SLC44A3_uc001dqw.3_Missense_Mutation_p.A348V|SLC44A3_uc010ots.1_Missense_Mutation_p.A316V|SLC44A3_uc009wds.2_Missense_Mutation_p.A299V|SLC44A3_uc010ott.1_Missense_Mutation_p.A316V|SLC44A3_uc010otu.1_RNA	NM_001114106	NP_001107578	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3 isoform 1	396	Helical; (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)	1		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TTCATCCTTGCGTGCCAGCAA	0.438													T	95323005	C	T	95323005	3	4	49	1	0	0	0	0	1	0	0	0	14637	768	27	1	1225	1	SLC44A3	1	95323005	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	5797933	95323005	153927616	73	38954											
AGL	178	broad.mit.edu	37	chr1	100379236	100379236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacaaagatagttatggagCttcaagtccttggtgtgact	10	6	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:100379236C>T	uc001dsi.1	+	30	4503	c.4103C>T	c.(4102-4104)GCT>GTT	p.A1368V	AGL_uc001dsj.1_Missense_Mutation_p.A1368V|AGL_uc001dsk.1_Missense_Mutation_p.A1368V|AGL_uc001dsl.1_Missense_Mutation_p.A1368V|AGL_uc001dsm.1_Missense_Mutation_p.A1352V|AGL_uc001dsn.1_Missense_Mutation_p.A1351V	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	1368	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AGTTATGGAGCTTCAAGTCCT	0.368													T	100379236	C	T	100379236	3	4	49	1	0	0	0	0	1	0	0	0	384	797	28	2	4286	2	AGL	1	100379236	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	5056231	100379236	148871385	74	38955											
CDC14A	8556	broad.mit.edu	37	chr1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-													gcactcctgtctggctcaaaCcccccctatcttccattcag					rs138415707		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:100889836_100889836AC>A	uc001dtf.2	+	4	856	c.368_368AC>A	c.(367-369)aacfs	p.N123fs	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Frame_Shift_Del_p.N65fs|CDC14A_uc001dte.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wed.1_5'UTR|CDC14A_uc001dtg.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wee.3_Frame_Shift_Del_p.N123fs	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	123	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTGGCTCAAACCCCCCCTAT	0.403													-	100889837	C	-	100889837	7	5	49	1	0	1	0	1	0	0	0	0	3056	506	18	0	387	0	CDC14A	1	100889837	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	510601	100889837	148360784	75	38956											
VCAM1	7412	broad.mit.edu	37	chr1	101203693	101203694	+	Frame_Shift_Del	DEL	AA	AA	-													ttccaggaagagaaaacaacAaagactatttttctcctgag							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:101203692_101203693CAA>C	uc001dti.3	+	8	2294_2295	c.2073_2074CAA>C	c.(2071-2076)aacaaafs	p.N691fs	VCAM1_uc010ouj.2_Frame_Shift_Del_p.N629fs|VCAM1_uc001dtj.3_Frame_Shift_Del_p.N599fs	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	691					heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GAGAAAACAACAAAGACTATTT	0.312													-	101203694	AA	-	101203693	7	5	49	1	0	1	0	1	0	0	0	0	17134	131	5	0	2108	0	VCAM1	1	101203693	Frame_Shift_Del	DEL	AA	TCGA-BR-7707-01A-11D-2053-08	313856	101203693	148046928	76	38957											
S1PR1	1901	broad.mit.edu	37	chr1	101704655	101704655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggaaagctgaatatcagcGcggacaaggagaacagcatt	13	8	1	2	rs140298731		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:101704655G>A	uc001dud.2	+	2	629	c.115G>A	c.(115-117)GCG>ACG	p.A39T	S1PR1_uc009weg.2_Missense_Mutation_p.A39T	NM_001400	NP_001391	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	39	Extracellular (By similarity).				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)	3						GAATATCAGCGCGGACAAGGA	0.498											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	101704655	G	A	101704655	3	1	49	1	0	0	0	0	1	0	0	0	13793	1087	38	1	117	1	S1PR1	1	101704655	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	500962	101704655	147545966	77	38958											
VAV3	10451	broad.mit.edu	37	chr1	108417568	108417568	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtcaaatgcctcgaaaagTtcacttttcctcattccaaa	4	11	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:108417568T>G	uc001dvk.1	-	2	330	c.276A>C	c.(274-276)GAA>GAC	p.E92D	VAV3_uc010ouw.1_Missense_Mutation_p.E92D|VAV3_uc001dvl.1_5'UTR|VAV3_uc010oux.1_Missense_Mutation_p.E92D	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	92	CH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CCTCGAAAAGTTCACTTTTCC	0.358													G	108417568	T	G	108417568	3	3	49	1	0	0	0	0	1	0	0	0	17130	1722	60	5	2396	5	VAV3	1	108417568	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	6712913	108417568	140833053	78	38959											
AKNAD1	254268	broad.mit.edu	37	chr1	109359778	109359778	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcagggtctgagctgtaggtCatgaaagcctgaagtttttt	13	6	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:109359778C>T	uc001dwa.2	-	15	2540	c.2271G>A	c.(2269-2271)ATG>ATA	p.M757I	AKNAD1_uc001dwb.2_RNA	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	757										ovary(3)	3						AGCTGTAGGTCATGAAAGCCT	0.458													T	109359778	C	T	109359778	3	4	49	1	0	0	0	0	1	0	0	0	464	826	29	4	247	4	AKNAD1	1	109359778	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	942210	109359778	139890843	79	38960											
AKNAD1	254268	broad.mit.edu	37	chr1	109369904	109369904	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgatccttccgtggcccTttttctccacgttttgcttc	7	13	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:109369904T>C	uc001dwa.2	-	11	2128	c.1859A>G	c.(1858-1860)AAG>AGG	p.K620R	AKNAD1_uc010ovb.1_Missense_Mutation_p.K327R|AKNAD1_uc001dwb.2_RNA	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	620										ovary(3)	3						TCCGTGGCCCTTTTTCTCCAC	0.413													C	109369904	T	C	109369904	3	2	49	1	0	0	0	0	1	0	0	0	464	1609	56	3	675	3	AKNAD1	1	109369904	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	10126	109369904	139880717	80	38961											
AHCYL1	10768	broad.mit.edu	37	chr1	110561031	110561031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacgggagcacttggatcGcatgaaaaacagttgtatcg	12	8	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:110561031G>A	uc001dyx.2	+	12	1527	c.1160G>A	c.(1159-1161)CGC>CAC	p.R387H	AHCYL1_uc010ovw.1_Missense_Mutation_p.R340H|AHCYL1_uc001dyy.2_Missense_Mutation_p.R340H|AHCYL1_uc010ovx.1_Missense_Mutation_p.R340H	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	387	NAD binding (By similarity).				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CACTTGGATCGCATGAAAAAC	0.443													A	110561031	G	A	110561031	3	1	49	1	0	0	0	0	1	0	0	0	410	1087	38	1	1206	1	AHCYL1	1	110561031	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1191127	110561031	138689590	81	38962											
KCNC4	3749	broad.mit.edu	37	chr1	110754251	110754251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatcatcatcaacgtgggcGgcacgcgacatgagacctac	11	12	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:110754251G>A	uc001dzh.2	+	1	187	c.130G>A	c.(130-132)GGC>AGC	p.G44S	KCNC4_uc001dzf.2_Missense_Mutation_p.G44S|KCNC4_uc009wfr.2_Missense_Mutation_p.G44S|KCNC4_uc001dzg.2_Missense_Mutation_p.G44S|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	44	Cytoplasmic (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAACGTGGGCGGCACGCGACA	0.677													A	110754251	G	A	110754251	3	1	49	1	0	0	0	0	1	0	0	0	8017	1116	39	1	132	1	KCNC4	1	110754251	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	193220	110754251	138496370	82	38963											
DENND2D	79961	broad.mit.edu	37	chr1	111734909	111734909	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaggggtagagcagtgcGgcagcagcatggatgcactg	17	8	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:111734909G>A	uc001eak.1	-	8	1025	c.825C>T	c.(823-825)GCC>GCT	p.A275A	DENND2D_uc001eal.1_Silent_p.A272A	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	275	DENN.									ovary(1)	1		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		AGAGCAGTGCGGCAGCAGCAT	0.627													A	111734909	G	A	111734909	2	1	49	1	0	0	0	0	0	0	0	1	4431	1103	39	1		1	DENND2D	1	111734909	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	980658	111734909	137515712	83	38964											
ATP5F1	515	broad.mit.edu	37	chr1	112002112	112002112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctttggaagttacttacCgggaacgactgtatagagta	12	6	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:112002112C>T	uc001ebc.2	+	6	968	c.547C>T	c.(547-549)CGG>TGG	p.R183W	ATP5F1_uc009wgf.1_Missense_Mutation_p.R330W|ATP5F1_uc001ebd.3_RNA	NM_001688	NP_001679	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	183					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding				0		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGTTACTTACCGGGAACGACT	0.358													T	112002112	C	T	112002112	3	4	49	1	0	0	0	0	1	0	0	0	1152	643	23	1	569	1	ATP5F1	1	112002112	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	267203	112002112	137248509	84	38965											
SLC16A1	6566	broad.mit.edu	37	chr1	113460046	113460046	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcaaagaaatactgaattcGaggtcttattggctttgtgt	10	6	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:113460046G>A	uc001ecx.2	-	4	1814	c.982C>T	c.(982-984)CGA>TGA	p.R328*	SLC16A1_uc001ecy.2_Nonsense_Mutation_p.R328*|SLC16A1_uc001ecz.2_Nonsense_Mutation_p.R328*	NM_003051	NP_003042	P53985	MOT1_HUMAN	solute carrier family 16, member 1	328	Cytoplasmic (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	TACTGAATTCGAGGTCTTATT	0.453													A	113460046	G	A	113460046	4	1	49	1	0	0	0	0	0	1	0	0	14402	1066	37	1	528	1	SLC16A1	1	113460046	Nonsense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1457934	113460046	135790575	85	38966											
MAGI3	260425	broad.mit.edu	37	chr1	114196613	114196613	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatttggctttgtcatcctcAcctccaaaaacaaaccacct	4	14	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:114196613A>G	uc001edk.2	+	15	2783	c.2602A>G	c.(2602-2604)ACC>GCC	p.T868A	MAGI3_uc001edh.3_Missense_Mutation_p.T893A|MAGI3_uc001edi.3_Missense_Mutation_p.T868A|MAGI3_uc010owm.1_Missense_Mutation_p.T893A|MAGI3_uc001edj.2_Missense_Mutation_p.T589A	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	893	Interaction with LPAR2 and GRIN2B.|PDZ 5.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTCATCCTCACCTCCAAAAA	0.498													G	114196613	A	G	114196613	3	3	49	1	0	0	0	0	1	0	0	0	9192	159	6	3	2660	3	MAGI3	1	114196613	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	736567	114196613	135054008	86	38967											
PTPN22	26191	broad.mit.edu	37	chr1	114380697	114380697	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttggtccgtgttattggcAcctttgaattaaaatatctt	7	6	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:114380697A>G	uc001eds.2	-	13	1455	c.1325T>C	c.(1324-1326)GTG>GCG	p.V442A	PTPN22_uc009wgq.2_Missense_Mutation_p.V387A|PTPN22_uc010owo.1_Missense_Mutation_p.V198A|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.V442A|PTPN22_uc009wgs.2_Missense_Mutation_p.V315A|PTPN22_uc001edu.2_Missense_Mutation_p.V442A	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type	442					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTTATTGGCACCTTTGAATT	0.378													G	114380697	A	G	114380697	3	3	49	1	0	0	0	0	1	0	0	0	12787	159	6	3	1157	3	PTPN22	1	114380697	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	184084	114380697	134869924	87	38968											
AP4B1	10717	broad.mit.edu	37	chr1	114438057	114438057	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattggggactagcatgaggGctccagaatcagggagttct	15	7	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:114438057G>T	uc001eeb.2	-	10	1993	c.1850C>A	c.(1849-1851)GCC>GAC	p.A617D	uc001edv.1_Intron|AP4B1_uc001eec.2_Missense_Mutation_p.A449D|AP4B1_uc001eed.2_Missense_Mutation_p.A617D|AP4B1_uc010owp.1_Missense_Mutation_p.A518D|AP4B1_uc001eea.1_3'UTR|AP4B1_uc001eee.1_3'UTR	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1	617					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			ovary(3)|central_nervous_system(1)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGCATGAGGGCTCCAGAATC	0.453													T	114438057	G	T	114438057	3	4	49	1	0	0	0	0	1	0	0	0	751	1203	42	5	373	5	AP4B1	1	114438057	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	57360	114438057	134812564	88	38969											
PTGFRN	5738	broad.mit.edu	37	chr1	117487474	117487474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccaggcggagcgtcctcGccctgacccacgagggcagg	16	16	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:117487474G>A	uc001egv.1	+	3	729	c.592G>A	c.(592-594)GCC>ACC	p.A198T		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	198	Ig-like C2-type 2.|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			liver(1)	1	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GAGCGTCCTCGCCCTGACCCA	0.746													A	117487474	G	A	117487474	3	1	49	1	0	0	0	0	1	0	0	0	12750	1087	38	1	602	1	PTGFRN	1	117487474	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	3049417	117487474	131763147	89	38970											
CD101	9398	broad.mit.edu	37	chr1	117552499	117552499	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcattggccagagagaagTaacagttcagaaaggaccac	11	9	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:117552499T>C	uc010oxb.1	+	2	129	c.71T>C	c.(70-72)GTA>GCA	p.V24A	CD101_uc009whd.2_Missense_Mutation_p.V24A|CD101_uc010oxc.1_Missense_Mutation_p.V24A|CD101_uc010oxd.1_Missense_Mutation_p.V24A	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	24	Extracellular (Potential).|Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						CAGAGAGAAGTAACAGTTCAG	0.458													C	117552499	T	C	117552499	3	2	49	1	0	0	0	0	1	0	0	0	2962	1638	57	3	77	3	CD101	1	117552499	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	65025	117552499	131698122	90	38971											
ZNF697	90874	broad.mit.edu	37	chr1	120165879	120165879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggtgcgaacggcgcaCgaagcccttgccgcactccc	13	17	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:120165879C>T	uc001ehy.1	-	3	1201	c.1087G>A	c.(1087-1089)GTG>ATG	p.V363M		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	363	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GAACGGCGCACGAAGCCCTTG	0.502													T	120165879	C	T	120165879	3	4	49	1	0	0	0	0	1	0	0	0	18097	536	19	1	554	1	ZNF697	1	120165879	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2613380	120165879	129084742	91	38972											
HMGCS2	3158	broad.mit.edu	37	chr1	120295184	120295184	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttacccttatggtagaAttgctctctttggttcatta	6	8	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:120295184A>C	uc001eid.2	-	8	1459	c.1408T>G	c.(1408-1410)TTC>GTC	p.F470V	HMGCS2_uc010oxj.1_Missense_Mutation_p.F428V|HMGCS2_uc001eie.2_Missense_Mutation_p.F378V	NM_005518	NP_005509	P54868	HMCS2_HUMAN	hydroxymethylglutaryl-CoA synthase 2 isoform 1	470					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			ovary(2)	2	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TTATGGTAGAATTGCTCTCTT	0.458													C	120295184	A	C	120295184	3	2	49	1	0	0	0	0	1	0	0	0	7233	101	4	5	126	5	HMGCS2	1	120295184	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	129305	120295184	128955437	92	38973											
BCL9	607	broad.mit.edu	37	chr1	147091769	147091769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccaaaaatcccagatggtcGaaattttcctcctggccagg	9	12	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:147091769G>A	uc001epq.2	+	8	2548	c.1808G>A	c.(1807-1809)CGA>CAA	p.R603Q	BCL9_uc010ozr.1_Missense_Mutation_p.R529Q	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	603	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					CCAGATGGTCGAAATTTTCCT	0.532			T	IGH@|IGL@	B-ALL								A	147091769	G	A	147091769	3	1	49	1	0	0	0	0	1	0	0	0	1381	1058	37	1	1826	1	BCL9	1	147091769	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	26796585	147091769	102158852	93	38974											
PI4KB	5298	broad.mit.edu	37	chr1	151266555	151266555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttccgagcggcaatcagCccttgcagcatcagcatctt	9	13	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:151266555C>T	uc001ext.2	-	11	2623	c.2208G>A	c.(2206-2208)GGG>GGA	p.G736G	PI4KB_uc001exr.2_Silent_p.G748G|PI4KB_uc001exs.2_Silent_p.G721G|PI4KB_uc001exu.2_Silent_p.G721G|PI4KB_uc010pcw.1_Silent_p.G404G	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	catalytic phosphatidylinositol 4-kinase beta	736	PI3K/PI4K.				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			ovary(2)|skin(2)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGGCAATCAGCCCTTGCAGCA	0.557													T	151266555	C	T	151266555	2	4	49	1	0	0	0	0	0	0	0	1	11874	726	26	2		2	PI4KB	1	151266555	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	4174786	151266555	97984066	94	38975											
RFX5	5993	broad.mit.edu	37	chr1	151316207	151316207	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgtgcagatcgggcagagAtgagatgctgctgtagcagg	16	7	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:151316207A>G	uc001exv.1	-	9	921	c.707T>C	c.(706-708)ATC>ACC	p.I236T	RFX5_uc001exw.1_Missense_Mutation_p.I236T|RFX5_uc009wmr.1_Missense_Mutation_p.I236T|RFX5_uc010pcx.1_Missense_Mutation_p.I196T	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	236						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCGGGCAGAGATGAGATGCTG	0.577													G	151316207	A	G	151316207	3	3	49	1	0	0	0	0	1	0	0	0	13266	333	12	3	1155	3	RFX5	1	151316207	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	49652	151316207	97934414	95	38976											
TUFT1	7286	broad.mit.edu	37	chr1	151546762	151546762	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaggtcacactcagccggtAccagagggaagcagaacaaa	11	10	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:151546762A>G	uc001eyl.2	+	8	673	c.611A>G	c.(610-612)TAC>TGC	p.Y204C	TUFT1_uc001eym.2_Missense_Mutation_p.Y179C|TUFT1_uc010pdf.1_Missense_Mutation_p.Y223C|TUFT1_uc010pdg.1_Missense_Mutation_p.Y152C	NM_020127	NP_064512	Q9NNX1	TUFT1_HUMAN	tuftelin 1 isoform 1	204	Potential.				bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel				0	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCAGCCGGTACCAGAGGGAA	0.483											OREG0003906	type=REGULATORY REGION|Gene=TUFT1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G	151546762	A	G	151546762	3	3	49	1	0	0	0	0	1	0	0	0	16769	391	14	3	641	3	TUFT1	1	151546762	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	230555	151546762	97703859	96	38977											
LINGO4	339398	broad.mit.edu	37	chr1	151774279	151774279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggcgtagctcctggagcCgcaccagggggctgagcctt	15	13	0	1	rs143989839		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:151774279C>T	uc001ezf.1	-	2	1092	c.902G>A	c.(901-903)CGG>CAG	p.R301Q		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	301	Extracellular (Potential).|LRR 10.					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCCTGGAGCCGCACCAGGGG	0.612													T	151774279	C	T	151774279	3	4	49	1	0	0	0	0	1	0	0	0	8817	652	23	1	883	1	LINGO4	1	151774279	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	227517	151774279	97476342	97	38978											
FLG	2312	broad.mit.edu	37	chr1	152282031	152282031	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctgtgcgtccatgggcGgactcagactgttcatgagt	14	11	2	2	rs145158439	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:152282031G>A	uc001ezu.1	-	3	5367	c.5331C>T	c.(5329-5331)TCC>TCT	p.S1777S		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1777	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCATGGGCGGACTCAGACT	0.607									Ichthyosis				A	152282031	G	A	152282031	2	1	49	1	0	0	0	0	0	0	0	1	5922	1103	39	1		1	FLG	1	152282031	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	507752	152282031	96968590	98	38979											
CRCT1	54544	broad.mit.edu	37	chr1	152487940	152487940	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgctccgtgtcccgccccGgcgcccaccccggcgcccgc	11	26	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:152487940G>A	uc001ezz.2	+	2	154	c.81G>A	c.(79-81)CCG>CCA	p.P27P		NM_019060	NP_061933	Q9UGL9	CRCT1_HUMAN	cysteine-rich C-terminal 1	27											0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			gtcccgccccggcgcccaccc	0.478													A	152487940	G	A	152487940	2	1	49	1	0	0	0	0	0	0	0	1	3853	1103	39	1		1	CRCT1	1	152487940	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	205909	152487940	96762681	99	38980											
LCE2D	353141	broad.mit.edu	37	chr1	152636751	152636751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctctgggagctgctgtgGtcccagctctgggggctgct	16	12	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:152636751G>A	uc001fag.2	+	2	225	c.170G>A	c.(169-171)GGT>GAT	p.G57D		NM_178430	NP_848517	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	57	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGCTGTGGTCCCAGCTCT	0.667													A	152636751	G	A	152636751	3	1	49	1	0	0	0	0	1	0	0	0	8668	1261	44	4	172	4	LCE2D	1	152636751	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	148811	152636751	96613870	100	38981											
SMCP	4184	broad.mit.edu	37	chr1	152857092	152857092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccagccaaaacccccatGctgcattcaggccaggtgct	9	16	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:152857092G>A	uc001fat.2	+	2	339	c.194G>A	c.(193-195)TGC>TAC	p.C65Y		NM_030663	NP_109588	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich	65	7.|7 X 7 (OR 8) AA approximate repeats.				penetration of zona pellucida|sperm motility	mitochondrial membrane					0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAACCCCCATGCTGCATTCAG	0.542													A	152857092	G	A	152857092	3	1	49	1	0	0	0	0	1	0	0	0	14789	1319	46	2	196	2	SMCP	1	152857092	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	220341	152857092	96393529	101	38982											
PGLYRP3	114771	broad.mit.edu	37	chr1	153279700	153279700	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagggccctgcaggcgagCggtcttgccccccactcctt	12	17	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:153279700C>T	uc001fbn.1	-	2	152	c.99G>A	c.(97-99)CCG>CCA	p.P33P		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3 precursor	33					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCAGGCGAGCGGTCTTGCCC	0.622													T	153279700	C	T	153279700	2	4	49	1	0	0	0	0	0	0	0	1	11795	755	27	1		1	PGLYRP3	1	153279700	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	422608	153279700	95970921	102	38983											
TRIM46	80128	broad.mit.edu	37	chr1	155150501	155150501	+	Frame_Shift_Del	DEL	G	G	-													agtggtcagcaggccaaggaGgaggtgtcgcagctggtgcg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:155150500_155150500AG>A	uc001fhs.1	+	5	1015	c.932_932AG>A	c.(931-933)gagfs	p.E311fs	TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Frame_Shift_Del_p.E311fs|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Frame_Shift_Del_p.E185fs|TRIM46_uc001fhu.1_Frame_Shift_Del_p.E288fs|TRIM46_uc009wpg.1_Frame_Shift_Del_p.E298fs|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	311						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGGCCAAGGAGGAGGTGTCG	0.612													-	155150501	G	-	155150501	7	5	49	1	0	1	0	1	0	0	0	0	16518	991	35	0	955	0	TRIM46	1	155150501	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	1870801	155150501	94100120	103	38984											
GBA	2629	broad.mit.edu	37	chr1	155207185	155207185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatccagcatgagtaggcGgacattgtggtgagtactgt	14	7	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:155207185G>A	uc001fjh.2	-	7	1096	c.946C>T	c.(946-948)CGC>TGC	p.R316C	RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Missense_Mutation_p.R203C|GBA_uc010pfx.1_Missense_Mutation_p.R267C|GBA_uc001fji.2_Missense_Mutation_p.R316C|GBA_uc001fjj.2_Missense_Mutation_p.R316C|GBA_uc001fjk.2_Missense_Mutation_p.R316C|GBA_uc001fjl.2_Missense_Mutation_p.R316C|GBA_uc010pfy.1_Missense_Mutation_p.R229C|GBA_uc009wqk.1_Missense_Mutation_p.R229C	NM_000157	NP_000148	P04062	GLCM_HUMAN	glucocerebrosidase precursor	316					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			ovary(1)|skin(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	ATGAGTAGGCGGACATTGTGG	0.572									Gaucher_disease_type_I				A	155207185	G	A	155207185	3	1	49	1	0	0	0	0	1	0	0	0	6266	1116	39	1	684	1	GBA	1	155207185	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	56684	155207185	94043436	104	38985											
ASH1L	55870	broad.mit.edu	37	chr1	155327459	155327459	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccatgggctggctgttttTgctgctggtgagtccattca	14	9	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:155327459T>C	uc009wqq.2	-	14	7372	c.6892A>G	c.(6892-6894)AAA>GAA	p.K2298E	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.K2293E	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2298					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGGCTGTTTTTGCTGCTGGTG	0.433													C	155327459	T	C	155327459	3	2	49	1	0	0	0	0	1	0	0	0	1041	1821	63	3	2077	3	ASH1L	1	155327459	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	120274	155327459	93923162	105	38986											
DAP3	7818	broad.mit.edu	37	chr1	155691377	155691377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggatttggagactgtatttCcccatggccttcctcctcgc	9	13	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:155691377C>T	uc001flq.2	+	4	407	c.238C>T	c.(238-240)CCC>TCC	p.P80S	DAP3_uc001flr.2_Missense_Mutation_p.P80S|DAP3_uc001fls.2_Missense_Mutation_p.P80S|DAP3_uc010pgl.1_Missense_Mutation_p.P39S|DAP3_uc001flt.2_Intron|DAP3_uc001flu.2_Missense_Mutation_p.P80S|DAP3_uc010pgm.1_Intron	NM_033657	NP_387506	P51398	RT29_HUMAN	death-associated protein 3	80					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			ovary(1)	1	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GACTGTATTTCCCCATGGCCT	0.527													T	155691377	C	T	155691377	3	4	49	1	0	0	0	0	1	0	0	0	4234	855	30	4	248	4	DAP3	1	155691377	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	363918	155691377	93559244	106	38987											
RXFP4	339403	broad.mit.edu	37	chr1	155912164	155912164	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcccttgggcgtcatcaccAccagctacctgctgctgctg	10	16	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:155912164A>G	uc010pgs.1	+	1	685	c.664A>G	c.(664-666)ACC>GCC	p.T222A		NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN	relaxin 3 receptor 2	222	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	angiotensin type II receptor activity				0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CGTCATCACCACCAGCTACCT	0.672													G	155912164	A	G	155912164	3	3	49	1	0	0	0	0	1	0	0	0	13762	159	6	3	666	3	RXFP4	1	155912164	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	220787	155912164	93338457	107	38988											
ARHGEF2	9181	broad.mit.edu	37	chr1	155920622	155920622	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgcaggccaccttacctGtggggggttgaaactcaagt	12	11	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:155920622G>A	uc001fmt.2	-	20	2819	c.2701C>T	c.(2701-2703)CAG>TAG	p.Q901*	ARHGEF2_uc001fmq.2_Nonsense_Mutation_p.Q139*|ARHGEF2_uc001fmr.2_Nonsense_Mutation_p.Q873*|ARHGEF2_uc001fms.2_Nonsense_Mutation_p.Q900*|ARHGEF2_uc001fmu.2_Nonsense_Mutation_p.Q945*	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	901					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CACCTTACCTGTGGGGGGTTG	0.622													A	155920622	G	A	155920622	4	1	49	1	0	0	0	0	0	1	0	0	903	1386	48	4	271	4	ARHGEF2	1	155920622	Nonsense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	8458	155920622	93329999	108	38989											
SLC25A44	9673	broad.mit.edu	37	chr1	156170176	156170176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctgcaggctgatggacttCgcggcttctatcgaggctat	12	11	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:156170176C>T	uc001fnp.2	+	2	860	c.538C>T	c.(538-540)CGC>TGC	p.R180C	SLC25A44_uc010phc.1_Missense_Mutation_p.R71C|SLC25A44_uc009wrr.2_Missense_Mutation_p.R180C|SLC25A44_uc010phd.1_Intron|SLC25A44_uc010phe.1_Intron	NM_014655	NP_055470	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	180	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			ovary(1)	1	Hepatocellular(266;0.158)					TGATGGACTTCGCGGCTTCTA	0.562													T	156170176	C	T	156170176	3	4	49	1	0	0	0	0	1	0	0	0	14509	884	31	1	540	1	SLC25A44	1	156170176	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	249554	156170176	93080445	109	38990											
BGLAP	632	broad.mit.edu	37	chr1	156212601	156212601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagtgaagagacccaggcGctacctgtatcaatggctgg	14	9	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:156212601G>A	uc001fnt.2	+	3	224	c.152G>A	c.(151-153)CGC>CAC	p.R51H	BGLAP_uc001fns.1_Silent_p.A152A	NM_199173	NP_954642	P02818	OSTCN_HUMAN	osteocalcin preproprotein	51					bone mineralization|cell adhesion|odontogenesis|regulation of bone mineralization|regulation of bone resorption|regulation of osteoclast differentiation		calcium ion binding|hydroxyapatite binding|structural constituent of bone				0	Hepatocellular(266;0.158)				Phytonadione(DB01022)	AGACCCAGGCGCTACCTGTAT	0.627													A	156212601	G	A	156212601	3	1	49	1	0	0	0	0	1	0	0	0	1417	1087	38	1	162	1	BGLAP	1	156212601	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	42425	156212601	93038020	110	38991											
NTRK1	4914	broad.mit.edu	37	chr1	156837916	156837916	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctgtcggggaaccctcTgcactgttcttgtgccctgc	12	14	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:156837916T>C	uc001fqh.1	+	5	505	c.449T>C	c.(448-450)CTG>CCG	p.L150P	NTRK1_uc001fqf.1_Missense_Mutation_p.L120P|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Missense_Mutation_p.L150P|NTRK1_uc009wsk.1_Missense_Mutation_p.L150P	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	150	LRRCT.|Extracellular (Potential).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GGGAACCCTCTGCACTGTTCT	0.632			T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)			C	156837916	T	C	156837916	3	2	49	1	0	0	0	0	1	0	0	0	10706	1580	55	3	597	3	NTRK1	1	156837916	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	625315	156837916	92412705	111	38992											
KIRREL	55243	broad.mit.edu	37	chr1	158064555	158064555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacggccgcccctcatcccGtctctcccactccagcggct	8	22	2	0	rs138458053		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:158064555G>A	uc001frn.3	+	15	2323	c.1919G>A	c.(1918-1920)CGT>CAT	p.R640H	KIRREL_uc010pib.1_Missense_Mutation_p.R540H|KIRREL_uc009wsq.2_Missense_Mutation_p.R476H|KIRREL_uc001fro.3_Missense_Mutation_p.R454H|uc001frp.2_5'Flank	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	640	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					CCCTCATCCCGTCTCTCCCAC	0.677													A	158064555	G	A	158064555	3	1	49	1	0	0	0	0	1	0	0	0	8324	1145	40	1	1977	1	KIRREL	1	158064555	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1226639	158064555	91186066	112	38993											
OR10X1	128367	broad.mit.edu	37	chr1	158549198	158549198	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaagaagcctgcagtgcaAgcagaggccacaagttgtcc	11	10	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:158549198A>G	uc010pin.1	-	1	492	c.492T>C	c.(490-492)GCT>GCC	p.A164A		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	164	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					CTGCAGTGCAAGCAGAGGCCA	0.463													G	158549198	A	G	158549198	2	3	49	1	0	0	0	0	0	0	0	1	10922	59	3	3		3	OR10X1	1	158549198	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	484643	158549198	90701423	113	38994											
VANGL2	57216	broad.mit.edu	37	chr1	160385688	160385688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggccactcccgcagctccCgcaagcacaggtgggcaggc	14	17	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:160385688C>T	uc001fwb.1	+	3	360	c.61C>T	c.(61-63)CGC>TGC	p.R21C	VANGL2_uc001fwc.1_Missense_Mutation_p.R21C	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	21	Cytoplasmic (Potential).				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCGCAGCTCCCGCAAGCACAG	0.657													T	160385688	C	T	160385688	3	4	49	1	0	0	0	0	1	0	0	0	17117	652	23	1	63	1	VANGL2	1	160385688	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1836490	160385688	88864933	114	38995											
PVRL4	81607	broad.mit.edu	37	chr1	161049561	161049561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgggctcacatgaagcccGtatttggagtgcagtagcgc	14	11	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:161049561G>A	uc001fxo.2	-	2	557	c.258C>T	c.(256-258)TAC>TAT	p.Y86Y		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	86	Ig-like V-type 1.|Extracellular (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CATGAAGCCCGTATTTGGAGT	0.687													A	161049561	G	A	161049561	2	1	49	1	0	0	0	0	0	0	0	1	12842	1140	40	1		1	PVRL4	1	161049561	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	663873	161049561	88201060	115	38996											
FCGR2A	2212	broad.mit.edu	37	chr1	161476213	161476213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctgacatgccagggggctCgcagccctgagagcgactcc	13	15	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:161476213C>T	uc001gan.2	+	3	249	c.196C>T	c.(196-198)CGC>TGC	p.R66C	FCGR2A_uc001gam.2_Missense_Mutation_p.R65C|FCGR2A_uc001gao.2_RNA	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor	66	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCAGGGGGCTCGCAGCCCTGA	0.587													T	161476213	C	T	161476213	3	4	49	1	0	0	0	0	1	0	0	0	5781	884	31	1	206	1	FCGR2A	1	161476213	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	426652	161476213	87774408	116	38997											
ATF6	22926	broad.mit.edu	37	chr1	161736162	161736162	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttgtgaaatgggggagccGgctggggttgccggcaccat	17	9	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:161736162G>T	uc001gbr.2	+	1	79	c.12G>T	c.(10-12)CCG>CCT	p.P4P	ATF6_uc001gbq.1_Silent_p.P4P	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	4	Cytoplasmic (Potential).|Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TGGGGGAGCCGGCTGGGGTTG	0.567													T	161736162	G	T	161736162	2	4	49	1	0	0	0	0	0	0	0	1	1084	1103	39	5		5	ATF6	1	161736162	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	259949	161736162	87514459	117	38998											
RCSD1	92241	broad.mit.edu	37	chr1	167659290	167659290	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgatttgctccatagaaatCaccacccaatgcgagccacc	6	14	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:167659290C>T	uc001gem.2	+	4	390	c.203C>T	c.(202-204)TCA>TTA	p.S68L	RCSD1_uc010pli.1_Missense_Mutation_p.S38L	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	68										ovary(2)|central_nervous_system(2)|skin(1)	5	all_hematologic(923;0.215)					CCATAGAAATCACCACCCAAT	0.458													T	167659290	C	T	167659290	3	4	49	1	0	0	0	0	1	0	0	0	13185	838	29	4	217	4	RCSD1	1	167659290	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	5923128	167659290	81591331	118	38999											
TBX19	9095	broad.mit.edu	37	chr1	168266967	168266967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtaaatgcaagataacGgctctcaaaatcaagtacaa	6	8	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:168266967G>A	uc001gfl.2	+	4	660	c.609G>A	c.(607-609)ACG>ACA	p.T203T	TBX19_uc001gfj.3_Silent_p.T134T|TBX19_uc001gfm.2_5'UTR	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	203	T-box.				anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)					GCAAGATAACGGCTCTCAAAA	0.348													A	168266967	G	A	168266967	2	1	49	1	0	0	0	0	0	0	0	1	15651	1103	39	1		1	TBX19	1	168266967	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	607677	168266967	80983654	119	39000											
C1orf114	57821	broad.mit.edu	37	chr1	169394074	169394074	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatgctggcatcactttttTcattttcattaattaaccac	3	9	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:169394074T>C	uc001gga.1	-	2	260	c.92A>G	c.(91-93)GAA>GGA	p.E31G	C1orf114_uc001gfz.1_Missense_Mutation_p.E31G|C1orf114_uc009wvq.1_Missense_Mutation_p.E31G|C1orf114_uc001ggb.2_Missense_Mutation_p.E31G|C1orf114_uc001ggc.1_Missense_Mutation_p.E31G	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	hypothetical protein LOC57821	31											0	all_hematologic(923;0.208)					ATCACTTTTTTCATTTTCATT	0.229													C	169394074	T	C	169394074	3	2	49	1	0	0	0	0	1	0	0	0	1987	1783	62	3	1454	3	C1orf114	1	169394074	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1127107	169394074	79856547	120	39001											
C1orf129	80133	broad.mit.edu	37	chr1	170967338	170967338	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagtttccggagaccctgAgttatctctataagctctca	7	12	2	2	rs74760081		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:170967338A>C	uc001ghg.2	+	15	1649	c.1519A>C	c.(1519-1521)AGT>CGT	p.S507R	C1orf129_uc009wvy.2_Missense_Mutation_p.S314R|C1orf129_uc010plz.1_Missense_Mutation_p.S507R	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	507							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGAGACCCTGAGTTATCTCTA	0.393													C	170967338	A	C	170967338	3	2	49	1	0	0	0	0	1	0	0	0	1996	304	11	5	1573	5	C1orf129	1	170967338	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1573264	170967338	78283283	121	39002											
DNM3	26052	broad.mit.edu	37	chr1	171956852	171956852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttacagattttgatgaagttCgccttgagattgaagcagaa	10	5	0	6			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:171956852C>T	uc001gie.2	+	3	468	c.292C>T	c.(292-294)CGC>TGC	p.R98C	DNM3_uc001gid.3_Missense_Mutation_p.R98C|DNM3_uc009wwb.2_Missense_Mutation_p.R98C|DNM3_uc001gif.2_Missense_Mutation_p.R98C	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	98					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1						TGATGAAGTTCGCCTTGAGAT	0.358													T	171956852	C	T	171956852	3	4	49	1	0	0	0	0	1	0	0	0	4673	884	31	1	302	1	DNM3	1	171956852	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	989514	171956852	77293769	122	39003											
TNR	7143	broad.mit.edu	37	chr1	175355252	175355252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtatcgggagccaggccGcagggcctgcactgagtatt	14	12	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:175355252G>A	uc001gkp.1	-	6	1774	c.1693C>T	c.(1693-1695)CGG>TGG	p.R565W	TNR_uc009wwu.1_Missense_Mutation_p.R565W	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	565	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					GAGCCAGGCCGCAGGGCCTGC	0.607													A	175355252	G	A	175355252	3	1	49	1	0	0	0	0	1	0	0	0	16335	1086	38	1	2447	1	TNR	1	175355252	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	3398400	175355252	73895369	123	39004											
FAM5B	57795	broad.mit.edu	37	chr1	177225078	177225078	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttgcccgttggaaggtgaAcaacttggctctggaaagga	14	7	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:177225078A>G	uc001glf.2	+	3	605	c.293A>G	c.(292-294)AAC>AGC	p.N98S	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.2_5'Flank	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	98						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						TGGAAGGTGAACAACTTGGCT	0.493											OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	177225078	A	G	177225078	3	3	49	1	0	0	0	0	1	0	0	0	5593	43	2	3	299	3	FAM5B	1	177225078	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1869826	177225078	72025543	124	39005											
QSOX1	5768	broad.mit.edu	37	chr1	180155277	180155277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggtcctggaagggcagcGcctggtggccctgaaaaagt	15	12	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:180155277G>A	uc001gnz.2	+	8	1052	c.977G>A	c.(976-978)CGC>CAC	p.R326H	QSOX1_uc001gny.2_Missense_Mutation_p.R326H|QSOX1_uc001goa.2_Missense_Mutation_p.R326H	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	326					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						GAAGGGCAGCGCCTGGTGGCC	0.577													A	180155277	G	A	180155277	3	1	49	1	0	0	0	0	1	0	0	0	12883	1087	38	1	1007	1	QSOX1	1	180155277	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2930199	180155277	69095344	125	39006											
C1orf14	81626	broad.mit.edu	37	chr1	182921962	182921962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgggggcaggggctgcgCctcctcttcatcctcaggca	14	14	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:182921962C>T	uc001gpu.2	-	1	592	c.307G>A	c.(307-309)GCG>ACG	p.A103T	C1orf14_uc001gpv.2_5'UTR|C1orf14_uc010pnz.1_5'UTR|C1orf14_uc001gpw.2_5'UTR	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	175											0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)		AGGGGCTGCGCCTCCTCTTCA	0.597													T	182921962	C	T	182921962	3	4	49	1	0	0	0	0	1	0	0	0	2000	739	26	2	1694	2	C1orf14	1	182921962	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2766685	182921962	66328659	126	39007											
LAMC2	3918	broad.mit.edu	37	chr1	183197579	183197579	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacatggcccagtgaggccTtgtcagccctgtcaatgcaa	11	12	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:183197579T>C	uc001gqa.2	+	11	1853	c.1539T>C	c.(1537-1539)CCT>CCC	p.P513P	LAMC2_uc001gpz.3_Silent_p.P513P|LAMC2_uc010poa.1_Silent_p.P213P	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	513	Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						CAGTGAGGCCTTGTCAGCCCT	0.557											OREG0014041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	183197579	T	C	183197579	2	2	49	1	0	0	0	0	0	0	0	1	8615	1596	56	3		3	LAMC2	1	183197579	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	275617	183197579	66053042	127	39008											
KCNT2	343450	broad.mit.edu	37	chr1	196288662	196288662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattggaaaccaacagattGcatccagaaaatgcatatct	6	10	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:196288662G>A	uc001gtd.1	-	20	2360	c.2300C>T	c.(2299-2301)GCA>GTA	p.A767V	KCNT2_uc009wyt.1_Intron|KCNT2_uc001gte.1_Intron|KCNT2_uc001gtf.1_Intron|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Intron|KCNT2_uc001gth.1_Intron	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	767	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						CCAACAGATTGCATCCAGAAA	0.413													A	196288662	G	A	196288662	3	1	49	1	0	0	0	0	1	0	0	0	8092	1319	46	2	1143	2	KCNT2	1	196288662	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	13091083	196288662	52961959	128	39009											
CAMSAP1L1	23271	broad.mit.edu	37	chr1	200818250	200818250	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagacagaaaatgggaaggAcagcattccttactgtagtg	12	6	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:200818250A>G	uc001gvl.2	+	12	2656	c.2386A>G	c.(2386-2388)ACA>GCA	p.T796A	CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.T785A|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.T769A	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	796						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						AATGGGAAGGACAGCATTCCT	0.438													G	200818250	A	G	200818250	3	3	49	1	0	0	0	0	1	0	0	0	2612	275	10	3	2395	3	CAMSAP1L1	1	200818250	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	4529588	200818250	48432371	129	39010											
KIF21B	23046	broad.mit.edu	37	chr1	200968582	200968582	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacagccactctcgtctcGctcttcctcctcctgggcac	6	20	4	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:200968582G>A	uc001gvs.1	-	13	2097	c.1780C>T	c.(1780-1782)CGA>TGA	p.R594*	KIF21B_uc001gvr.1_Nonsense_Mutation_p.R594*|KIF21B_uc009wzl.1_Nonsense_Mutation_p.R594*|KIF21B_uc010ppn.1_Nonsense_Mutation_p.R594*	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	594	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						CTCTCGTCTCGCTCTTCCTCC	0.627													A	200968582	G	A	200968582	4	1	49	1	0	0	0	0	0	1	0	0	8289	1095	38	1	3182	1	KIF21B	1	200968582	Nonsense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	150332	200968582	48282039	130	39011											
PPP1R15B	84919	broad.mit.edu	37	chr1	204378728	204378728	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgcaccttacaagaaagTaaggtgtgacactcagaaat	9	8	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:204378728T>C	uc001hav.3	-	1	2217	c.1812A>G	c.(1810-1812)TTA>TTG	p.L604L		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	604					regulation of translation					ovary(1)|pancreas(1)	2	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TACAAGAAAGTAAGGTGTGAC	0.468													C	204378728	T	C	204378728	2	2	49	1	0	0	0	0	0	0	0	1	12364	1635	57	3		3	PPP1R15B	1	204378728	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	3410146	204378728	44871893	131	39012											
C4BPA	722	broad.mit.edu	37	chr1	207300065	207300065	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgattctttagaaatcacCtgtcgcaagccagatgtttc	7	10	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:207300065C>A	uc001hfo.2	+	7	908	c.714C>A	c.(712-714)ACC>ACA	p.T238T		NM_000715	NP_000706	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	238	Sushi 4.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						TAGAAATCACCTGTCGCAAGC	0.373													A	207300065	C	A	207300065	2	1	49	1	0	0	0	0	0	0	0	1	2249	668	24	5		5	C4BPA	1	207300065	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2921337	207300065	41950556	132	39013											
CR1	1378	broad.mit.edu	37	chr1	207758095	207758095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatatcttacacatgtgacCcccacccagacagagggatg	8	12	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:207758095C>T	uc001hfy.2	+	25	4194	c.4054C>T	c.(4054-4056)CCC>TCC	p.P1352S	CR1_uc009xcl.1_Missense_Mutation_p.P902S|CR1_uc001hfx.2_Missense_Mutation_p.P1802S	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1352	Extracellular (Potential).|Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						CACATGTGACCCCCACCCAGA	0.512													T	207758095	C	T	207758095	3	4	49	1	0	0	0	0	1	0	0	0	3840	623	22	4	5534	4	CR1	1	207758095	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	458030	207758095	41492526	133	39014											
LAMB3	3914	broad.mit.edu	37	chr1	209804065	209804065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtgttgtgctggcagaCacagacatcgtggacctggg	16	9	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:209804065C>T	uc001hhg.2	-	8	1228	c.838G>A	c.(838-840)GTC>ATC	p.V280I	LAMB3_uc009xco.2_Missense_Mutation_p.V280I|LAMB3_uc001hhh.2_Missense_Mutation_p.V280I|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.V216I	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	280	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGCTGGCAGACACAGACATCG	0.582													T	209804065	C	T	209804065	3	4	49	1	0	0	0	0	1	0	0	0	8612	478	17	4	2740	4	LAMB3	1	209804065	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2045970	209804065	39446556	134	39015											
USH2A	7399	broad.mit.edu	37	chr1	215956157	215956157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttggtccacgtagggggaCtcactccttgaggcacatct	11	11	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:215956157C>T	uc001hku.1	-	53	10895	c.10508G>A	c.(10507-10509)AGT>AAT	p.S3503N		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3503	Extracellular (Potential).|Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGTAGGGGGACTCACTCCTTG	0.413										HNSCC(13;0.011)			T	215956157	C	T	215956157	3	4	49	1	0	0	0	0	1	0	0	0	17033	565	20	4	5180	4	USH2A	1	215956157	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	6152092	215956157	33294464	135	39016											
EPRS	2058	broad.mit.edu	37	chr1	220152906	220152906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatctttggatcttcaaaaaCgatttcaaacattttggaaa	5	6	4	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:220152906C>T	uc001hly.1	-	27	4033	c.3763G>A	c.(3763-3765)GTT>ATT	p.V1255I		NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	1255	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TCTTCAAAAACGATTTCAAAC	0.368													T	220152906	C	T	220152906	3	4	49	1	0	0	0	0	1	0	0	0	5191	536	19	1	799	1	EPRS	1	220152906	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	4196749	220152906	29097715	136	39017											
DUSP10	11221	broad.mit.edu	37	chr1	221875832	221875832	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtttaggtcttcctcgaaCtctagcaactgccccatgaa	7	12	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:221875832C>T	uc001hmy.1	-	4	1553	c.1371G>A	c.(1369-1371)GAG>GAA	p.E457E	DUSP10_uc001hmx.1_Silent_p.E115E|DUSP10_uc001hmz.1_Silent_p.E115E	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	457					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)		CTTCCTCGAACTCTAGCAACT	0.468													T	221875832	C	T	221875832	2	4	49	1	0	0	0	0	0	0	0	1	4810	564	20	4		4	DUSP10	1	221875832	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1722926	221875832	27374789	137	39018											
DUSP10	11221	broad.mit.edu	37	chr1	221912540	221912540	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggatgtgactcttgttgtActccatgaagggcctgcagt	12	8	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:221912540A>G	uc001hmy.1	-	2	729	c.547T>C	c.(547-549)TAC>CAC	p.Y183H	DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	183	Rhodanese.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)		CTCTTGTTGTACTCCATGAAG	0.512													G	221912540	A	G	221912540	3	3	49	1	0	0	0	0	1	0	0	0	4810	391	14	3	913	3	DUSP10	1	221912540	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	36708	221912540	27338081	138	39019											
HHIPL2	79802	broad.mit.edu	37	chr1	222696078	222696078	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctttgtaccaggcccTcgcaatgtattcttgctgct	7	12	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:222696078T>C	uc001hnh.1	-	9	2098	c.2040A>G	c.(2038-2040)CGA>CGG	p.R680R		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	680					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		TACCAGGCCCTCGCAATGTAT	0.567													C	222696078	T	C	222696078	2	2	49	1	0	0	0	0	0	0	0	1	7094	1538	54	3		3	HHIPL2	1	222696078	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	783538	222696078	26554543	139	39020											
MIA3	375056	broad.mit.edu	37	chr1	222801804	222801804	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcagaggaagaaaaagaagaTgatgatgatgcattagtccc	11	5	1	7			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:222801804T>A	uc001hnl.2	+	4	1251	c.1242T>A	c.(1240-1242)GAT>GAA	p.D414E	MIA3_uc009xea.1_Missense_Mutation_p.D250E	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	414	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		AAAAAGAAGATGATGATGATG	0.418													A	222801804	T	A	222801804	3	1	49	1	0	0	0	0	1	0	0	0	9565	1461	51	5	1256	5	MIA3	1	222801804	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	105726	222801804	26448817	140	39021											
DISP1	84976	broad.mit.edu	37	chr1	223177005	223177005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatccgagttccaggtgttcCggtcgtcccatccttttgag	10	12	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:223177005C>T	uc001hnu.1	+	8	2413	c.2266C>T	c.(2266-2268)CGG>TGG	p.R756W		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	756					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		CCAGGTGTTCCGGTCGTCCCA	0.463													T	223177005	C	T	223177005	3	4	49	1	0	0	0	0	1	0	0	0	4539	643	23	1	2292	1	DISP1	1	223177005	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	375201	223177005	26073616	141	39022											
CAPN2	824	broad.mit.edu	37	chr1	223934727	223934727	+	Frame_Shift_Del	DEL	G	G	-													gatgctatgaagcgctatcaGggggtgccaccactgagggc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:223934726_223934726AG>A	uc001hob.4	+	4	812	c.588_588AG>A	c.(586-588)tcafs	p.S196fs	CAPN2_uc010puy.2_Frame_Shift_Del_p.S118fs	NM_001748	NP_001139540	P17655	CAN2_HUMAN	Homo sapiens calpain 2, (m/II) large subunit (CAPN2), transcript variant 1, mRNA.	196	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		AAGCGCTATCAGGGGGTGCCA	0.532													-	223934727	G	-	223934727	7	5	49	1	0	1	0	1	0	0	0	0	2627	1000	35	0	614	0	CAPN2	1	223934727	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	757722	223934727	25315894	142	39023											
MIXL1	83881	broad.mit.edu	37	chr1	226413384	226413384	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccgaaccaaacggggtTggagggggcatctctgactc	14	12	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:226413384T>C	uc010pvm.1	+	2	570	c.570T>C	c.(568-570)GTT>GTC	p.V190V		NM_031944	NP_114150	Q9H2W2	MIXL1_HUMAN	Mix-like homeobox protein 1	190					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		CAAACGGGGTTGGAGGGGGCA	0.517													C	226413384	T	C	226413384	2	2	49	1	0	0	0	0	0	0	0	1	9597	1799	63	3		3	MIXL1	1	226413384	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	2478657	226413384	22837237	143	39024											
ITPKB	3707	broad.mit.edu	37	chr1	226924682	226924682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcggggcgcttgaatggCggagctctgtgcctggatgt	18	9	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:226924682C>T	uc010pvo.1	-	2	818	c.478G>A	c.(478-480)GCC>ACC	p.A160T	ITPKB_uc001hqh.2_Missense_Mutation_p.A160T	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	160							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				GCTTGAATGGCGGAGCTCTGT	0.652													T	226924682	C	T	226924682	3	4	49	1	0	0	0	0	1	0	0	0	7918	768	27	1	2390	1	ITPKB	1	226924682	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	511298	226924682	22325939	144	39025											
CDC42BPA	8476	broad.mit.edu	37	chr1	227300012	227300012	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtgaagtcaaaagataCcttcagtccctccaattcat	5	10	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:227300012C>T	uc001hqr.2	-	14	2944	c.2001_splice	c.e14+1	p.K667_splice	CDC42BPA_uc001hqs.2_Splice_Site_p.K586_splice|CDC42BPA_uc009xes.2_Splice_Site_p.K667_splice|CDC42BPA_uc010pvs.1_Splice_Site_p.K667_splice	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B						actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				TCAAAAGATACCTTCAGTCCC	0.393													T	227300012	C	T	227300012	5	4	49	1	0	0	0	0	0	0	1	0	3072	521	18	4	3249	4	CDC42BPA	1	227300012	Splice_Site	SNP	C	TCGA-BR-7707-01A-11D-2053-08	375330	227300012	21950609	145	39026											
SNAP47	116841	broad.mit.edu	37	chr1	227954678	227954678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatctgggctgatgggccGtaccctgcaccgtgagccac	13	14	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:227954678G>A	uc001hrf.2	+	4	1556	c.1142G>A	c.(1141-1143)CGT>CAT	p.R381H	SNAP47_uc001hqz.2_Missense_Mutation_p.R336H|SNAP47_uc001hra.2_Missense_Mutation_p.R139H|SNAP47_uc001hrd.2_Missense_Mutation_p.R381H|SNAP47_uc001hre.2_Missense_Mutation_p.R139H	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	381						endomembrane system|membrane|perinuclear region of cytoplasm				ovary(1)	1						CTGATGGGCCGTACCCTGCAC	0.607													A	227954678	G	A	227954678	3	1	49	1	0	0	0	0	1	0	0	0	14832	1145	40	1	1156	1	SNAP47	1	227954678	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	654666	227954678	21295943	146	39027											
OBSCN	84033	broad.mit.edu	37	chr1	228437865	228437865	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggaggctggtggtgcagcaGgcatgccaggcggacaccgg	19	11	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:228437865G>T	uc009xez.1	+	14	4277	c.4233G>T	c.(4231-4233)CAG>CAT	p.Q1411H	OBSCN_uc001hsn.2_Missense_Mutation_p.Q1411H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1411	Ig-like 14.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TGGTGCAGCAGGCATGCCAGG	0.642													T	228437865	G	T	228437865	3	4	49	1	0	0	0	0	1	0	0	0	10812	991	35	5	4283	5	OBSCN	1	228437865	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	483187	228437865	20812756	147	39028											
OBSCN	84033	broad.mit.edu	37	chr1	228495858	228495858	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggttgatgcggaggtgacGgccgatgaggatgttgagtt	18	5	0	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:228495858G>A	uc009xez.1	+	47	12557	c.12513G>A	c.(12511-12513)ACG>ACA	p.T4171T	OBSCN_uc001hsn.2_Silent_p.T4171T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4171	Ig-like 43.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CGGAGGTGACGGCCGATGAGG	0.597													A	228495858	G	A	228495858	2	1	49	1	0	0	0	0	0	0	0	1	10812	1103	39	1		1	OBSCN	1	228495858	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	57993	228495858	20754763	148	39029											
GALNT2	2590	broad.mit.edu	37	chr1	230372414	230372414	+	Frame_Shift_Del	DEL	G	G	-													ttcttttcctagctgaggacGgggctctcttggggaaaatt							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:230372413_230372413CG>C	uc010pwa.1	+	5	621	c.549_549CG>C	c.(547-549)gacfs	p.D183fs	GALNT2_uc010pvy.1_Frame_Shift_Del_p.D145fs|GALNT2_uc010pvz.1_Non-coding_Transcript	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	183	Catalytic subdomain A.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TAGCTGAGGACGGGGCTCTCT	0.423													-	230372414	G	-	230372414	7	5	49	1	0	1	0	1	0	0	0	0	6213	1116	39	0	572	0	GALNT2	1	230372414	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	1876556	230372414	18878207	149	39030											
SIPA1L2	57568	broad.mit.edu	37	chr1	232581355	232581355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggagcagctgttggcaCggcagccggtcgggcgtgcc	18	12	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:232581355C>T	uc001hvg.2	-	9	3431	c.3273G>A	c.(3271-3273)CCG>CCA	p.P1091P	SIPA1L2_uc001hvf.2_Silent_p.P165P	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1091					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCTGTTGGCACGGCAGCCGGT	0.672													T	232581355	C	T	232581355	2	4	49	1	0	0	0	0	0	0	0	1	14330	523	19	1		1	SIPA1L2	1	232581355	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2208941	232581355	16669266	150	39031											
TARBP1	6894	broad.mit.edu	37	chr1	234553890	234553890	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttatgaagaatcaatatAataatccattctataaaata	2	4	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:234553890A>G	uc001hwd.2	-	22	3645	c.3645T>C	c.(3643-3645)ATT>ATC	p.I1215I		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	1215					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GAATCAATATAATAATCCATT	0.264													G	234553890	A	G	234553890	2	3	49	1	0	0	0	0	0	0	0	1	15552	358	13	3		3	TARBP1	1	234553890	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1972535	234553890	14696731	151	39032											
EDARADD	128178	broad.mit.edu	37	chr1	236557807	236557807	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggtcaccaagagggTatgtaggcatttgctgtctt	12	9	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:236557807T>C	uc001hxu.1	+	1	126	c.61_splice	c.e1+2	p.D21_splice	EDARADD_uc001hxv.1_5'Flank	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain isoform A						cell differentiation|signal transduction	cytoplasm					0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACCAAGAGGGTATGTAGGCAT	0.428													C	236557807	T	C	236557807	5	2	49	1	0	0	0	0	0	0	1	0	4906	1652	57	3	65	3	EDARADD	1	236557807	Splice_Site	SNP	T	TCGA-BR-7707-01A-11D-2053-08	2003917	236557807	12692814	152	39033											
EDARADD	128178	broad.mit.edu	37	chr1	236590728	236590728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aattactttgaactgcccacGaaattcagatatgaaaaatc	5	8	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:236590728G>A	uc001hxu.1	+	4	262	c.197G>A	c.(196-198)CGA>CAA	p.R66Q	EDARADD_uc001hxv.1_Missense_Mutation_p.R56Q	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain isoform A	66					cell differentiation|signal transduction	cytoplasm					0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACTGCCCACGAAATTCAGAT	0.249													A	236590728	G	A	236590728	3	1	49	1	0	0	0	0	1	0	0	0	4906	1058	37	1	246	1	EDARADD	1	236590728	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	32921	236590728	12659893	153	39034											
MTR	4548	broad.mit.edu	37	chr1	237024537	237024537	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatggaatgaaaattgTtggtgatctttttggagctg	13	2	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:237024537T>C	uc001hyi.3	+	20	2579	c.2156T>C	c.(2155-2157)GTT>GCT	p.V719A	MTR_uc010pxw.1_Missense_Mutation_p.V312A|MTR_uc010pxx.1_Intron|MTR_uc010pxy.1_Missense_Mutation_p.V573A	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	719	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ATGAAAATTGTTGGTGATCTT	0.348													C	237024537	T	C	237024537	3	2	49	1	0	0	0	0	1	0	0	0	9958	1725	60	3	2234	3	MTR	1	237024537	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	433809	237024537	12226084	154	39035											
RYR2	6262	broad.mit.edu	37	chr1	237778123	237778123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgctccaaatgaaactgCcagagccagttaaattgcag	9	11	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:237778123C>T	uc001hyl.1	+	37	5815	c.5695C>T	c.(5695-5697)CCA>TCA	p.P1899S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1899	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATGAAACTGCCAGAGCCAGT	0.468													T	237778123	C	T	237778123	3	4	49	1	0	0	0	0	1	0	0	0	13769	739	26	2	5841	2	RYR2	1	237778123	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	753586	237778123	11472498	155	39036											
CHRM3	1131	broad.mit.edu	37	chr1	240072331	240072331	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catacccaaaaccttttggaAtctgggctactggctgtgct	9	11	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:240072331A>C	uc001hyp.2	+	5	2359	c.1580A>C	c.(1579-1581)AAT>ACT	p.N527T		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	527	Extracellular (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACCTTTTGGAATCTGGGCTAC	0.483													C	240072331	A	C	240072331	3	2	49	1	0	0	0	0	1	0	0	0	3378	101	4	5	1582	5	CHRM3	1	240072331	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	2294208	240072331	9178290	156	39037											
FMN2	56776	broad.mit.edu	37	chr1	240370282	240370282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcaggcgatgtctgtctcGaagctctcaggttagaagaa	11	10	4	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:240370282G>A	uc010pyd.1	+	5	2395	c.2170G>A	c.(2170-2172)GAA>AAA	p.E724K	FMN2_uc010pye.1_Missense_Mutation_p.E728K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	724					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGTCTGTCTCGAAGCTCTCAG	0.532													A	240370282	G	A	240370282	3	1	49	1	0	0	0	0	1	0	0	0	5950	1059	37	1	2188	1	FMN2	1	240370282	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	297951	240370282	8880339	157	39038											
EXO1	9156	broad.mit.edu	37	chr1	242035457	242035457	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgtttgtgcctgacctggTaaatggacctactaacaaaa	9	8	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:242035457T>C	uc001hzh.2	+	12	1931	c.1391T>C	c.(1390-1392)GTA>GCA	p.V464A	EXO1_uc001hzi.2_Missense_Mutation_p.V464A|EXO1_uc001hzj.2_Missense_Mutation_p.V464A|EXO1_uc009xgq.2_Missense_Mutation_p.V463A	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	464	Interaction with MLH1.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CCTGACCTGGTAAATGGACCT	0.363								Direct_reversal_of_damage|Editing_and_processing_nucleases					C	242035457	T	C	242035457	3	2	49	1	0	0	0	0	1	0	0	0	5300	1638	57	3	1425	3	EXO1	1	242035457	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1665175	242035457	7215164	158	39039											
ZNF238	10472	broad.mit.edu	37	chr1	244217371	244217371	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaagggaaactccagttcAaagacttgcccattgaagac	9	9	1	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:244217371A>G	uc001iae.2	+	1	790	c.268A>G	c.(268-270)AAA>GAA	p.K90E	ZNF238_uc001iad.3_Missense_Mutation_p.K99E|ZNF238_uc001iaf.1_Missense_Mutation_p.K90E	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	90	BTB.				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			ACTCCAGTTCAAAGACTTGCC	0.458													G	244217371	A	G	244217371	3	3	49	1	0	0	0	0	1	0	0	0	17787	131	5	3	301	3	ZNF238	1	244217371	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	2181914	244217371	5033250	159	39040											
ZNF238	10472	broad.mit.edu	37	chr1	244218475	244218475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaacctgagccgccatgccGtggtgcacacccgcgagaag	12	15	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:244218475G>A	uc001iae.2	+	1	1894	c.1372G>A	c.(1372-1374)GTG>ATG	p.V458M	ZNF238_uc001iad.3_Missense_Mutation_p.V467M|ZNF238_uc001iaf.1_3'UTR	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	458	C2H2-type 3.				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			CCGCCATGCCGTGGTGCACAC	0.627													A	244218475	G	A	244218475	3	1	49	1	0	0	0	0	1	0	0	0	17787	1145	40	1	1405	1	ZNF238	1	244218475	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1104	244218475	5032146	160	39041											
ZNF124	7678	broad.mit.edu	37	chr1	247320205	247320205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagacaactgaaagctttgCcacattccatgcacacataa	6	11	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:247320205C>T	uc001ick.2	-	4	858	c.719G>A	c.(718-720)GGC>GAC	p.G240D	ZNF124_uc001ici.2_Intron|ZNF124_uc001icj.1_Missense_Mutation_p.G178D	NM_003431	NP_003422	Q15973	ZN124_HUMAN	zinc finger protein 124	240	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GAAAGCTTTGCCACATTCCAT	0.443													T	247320205	C	T	247320205	3	4	49	1	0	0	0	0	1	0	0	0	17717	739	26	2	340	2	ZNF124	1	247320205	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3101730	247320205	1930416	161	39042											
NLRP3	114548	broad.mit.edu	37	chr1	247587740	247587740	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagcggggagacattctccTgagcagcctcatcagaaaga	12	11	3	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:247587740T>C	uc001icr.2	+	5	1133	c.995T>C	c.(994-996)CTG>CCG	p.L332P	NLRP3_uc001ics.2_Missense_Mutation_p.L332P|NLRP3_uc001icu.2_Missense_Mutation_p.L332P|NLRP3_uc001icw.2_Missense_Mutation_p.L332P|NLRP3_uc001icv.2_Missense_Mutation_p.L332P|NLRP3_uc010pyw.1_Missense_Mutation_p.L330P|NLRP3_uc001ict.1_Missense_Mutation_p.L330P	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	332	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GACATTCTCCTGAGCAGCCTC	0.582													C	247587740	T	C	247587740	3	2	49	1	0	0	0	0	1	0	0	0	10478	1580	55	3	1005	3	NLRP3	1	247587740	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	267535	247587740	1662881	162	39043											
OR11L1	391189	broad.mit.edu	37	chr1	248004563	248004563	+	Frame_Shift_Del	DEL	A	A	-													acatagggccccagtgtcagAaaaaaacaaatgcacagcac							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:248004562_248004562GA>G	uc001idn.1	-	0	637	c.637_637TC>C	c.(637-639)ctgfs	p.L213fs		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L213L(2)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCCAGTGTCAGAAAAAAACAA	0.512													-	248004563	A	-	248004563	7	5	49	1	0	1	0	1	0	0	0	0	10930	243	9	0	336	0	OR11L1	1	248004563	Frame_Shift_Del	DEL	A	TCGA-BR-7707-01A-11D-2053-08	416823	248004563	1246058	163	39044											
OR11L1	391189	broad.mit.edu	37	chr1	248005009	248005009	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagaaaggagagatgctGgaggaacatgtacatagggg	15	6	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:248005009G>A	uc001idn.1	-	1	190	c.190C>T	c.(190-192)CAG>TAG	p.Q64*		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	64	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGAGATGCTGGAGGAACATG	0.557													A	248005009	G	A	248005009	4	1	49	1	0	0	0	0	0	1	0	0	10930	1357	47	4	782	4	OR11L1	1	248005009	Nonsense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	446	248005009	1245612	164	39045											
OR2L3	391192	broad.mit.edu	37	chr1	248223987	248223987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcacacgaatgccccatgGaaaattacaatcaaacatca	6	11	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:248223987G>A	uc001idx.1	+	1	4	c.4G>A	c.(4-6)GAA>AAA	p.E2K	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	2	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATGCCCCATGGAAAATTACAA	0.303													A	248223987	G	A	248223987	3	1	49	1	0	0	0	0	1	0	0	0	11008	1175	41	4	6	4	OR2L3	1	248223987	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	218978	248223987	1026634	165	39046											
OR2M5	127059	broad.mit.edu	37	chr1	248308959	248308959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttccttctcctactgtggGtctcgggaaatagcccactt	8	12	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:248308959G>A	uc010pze.1	+	1	510	c.510G>A	c.(508-510)GGG>GGA	p.G170G		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	170	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CCTACTGTGGGTCTCGGGAAA	0.443													A	248308959	G	A	248308959	2	1	49	1	0	0	0	0	0	0	0	1	11013	1248	44	4		4	OR2M5	1	248308959	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	84972	248308959	941662	166	39047											
TMEM18	129787	broad.mit.edu	37	chr2	675583	675583	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggagcacgcagagcgcGtggaaggtggccagccccat	17	11	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:675583G>A	uc002qwl.2	-	2	199	c.105C>T	c.(103-105)CAC>CAT	p.H35H	TMEM18_uc002qwk.2_RNA|uc002qwm.1_5'Flank	NM_152834	NP_690047	Q96B42	TMM18_HUMAN	transmembrane protein 18	35	Helical; (Potential).				cell migration	integral to membrane|nuclear membrane				ovary(1)	1	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		CGCAGAGCGCGTGGAAGGTGG	0.572													A	675583	G	A	675583	2	1	49	1	0	0	0	0	0	0	0	1	16095	1136	40	1		1	TMEM18	2	675583	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08		675583	242523790	167	39048											
RNF144A	9781	broad.mit.edu	37	chr2	7164594	7164594	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgaaggctgcgcgcagatgAtgtgcaagaactgcaagcac	13	10	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:7164594A>G	uc002qys.2	+	7	1046	c.604A>G	c.(604-606)ATG>GTG	p.M202V	RNF144A_uc002qyt.2_Missense_Mutation_p.M51V	NM_014746	NP_055561	P50876	R144A_HUMAN	ring finger protein 144	202	RING-type 2; degenerate.					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			ovary(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CGCGCAGATGATGTGCAAGAA	0.547													G	7164594	A	G	7164594	3	3	49	1	0	0	0	0	1	0	0	0	13445	333	12	3	622	3	RNF144A	2	7164594	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	6489011	7164594	236034779	168	39049											
KIDINS220	57498	broad.mit.edu	37	chr2	8957838	8957838	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgcagatataagtgctgtCcaattatccttgaacatata	7	7	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:8957838C>T	uc002qzc.2	-	4	398	c.216G>A	c.(214-216)TGG>TGA	p.W72*	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Nonsense_Mutation_p.W30*|KIDINS220_uc010yiw.1_Nonsense_Mutation_p.W72*	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	72	Cytoplasmic (Potential).|ANK 3.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAAGTGCTGTCCAATTATCCT	0.353													T	8957838	C	T	8957838	4	4	49	1	0	0	0	0	0	1	0	0	8271	856	30	4	5207	4	KIDINS220	2	8957838	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1793244	8957838	234241535	169	39050											
E2F6	1876	broad.mit.edu	37	chr2	11587798	11587798	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctctcagatgaagaggtccCgacaccttcagaccttttgt	9	12	2	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:11587798C>A	uc002rbh.2	-	6	1046	c.754G>T	c.(754-756)GGG>TGG	p.G252W	E2F6_uc002rbe.2_Missense_Mutation_p.G177W|E2F6_uc002rbf.2_Missense_Mutation_p.G220W|E2F6_uc002rbg.2_Missense_Mutation_p.G177W|E2F6_uc002rbi.2_Missense_Mutation_p.G177W|E2F6_uc010yjl.1_RNA	NM_198256	NP_937987	O75461	E2F6_HUMAN	E2F transcription factor 6	252	Transcription repression.				negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			skin(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		GAAGAGGTCCCGACACCTTCA	0.433													A	11587798	C	A	11587798	3	1	49	1	0	0	0	0	1	0	0	0	4871	652	23	5	99	5	E2F6	2	11587798	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2629960	11587798	231611575	170	39051											
GREB1	9687	broad.mit.edu	37	chr2	11706636	11706636	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgggaaggacctgcgccTtgtctccatttccaacgagc	12	14	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:11706636T>G	uc002rbk.1	+	4	608	c.308T>G	c.(307-309)CTT>CGT	p.L103R	GREB1_uc002rbl.2_Missense_Mutation_p.L103R|GREB1_uc002rbm.2_5'UTR|GREB1_uc002rbn.1_Missense_Mutation_p.L103R	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	103						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GACCTGCGCCTTGTCTCCATT	0.647													G	11706636	T	G	11706636	3	3	49	1	0	0	0	0	1	0	0	0	6760	1609	56	5	318	5	GREB1	2	11706636	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	118838	11706636	231492737	171	39052											
GREB1	9687	broad.mit.edu	37	chr2	11774326	11774326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatcgaggcggcccccgaCatcatgcactacgccctgct	9	18	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:11774326C>T	uc002rbk.1	+	29	5361	c.5061C>T	c.(5059-5061)GAC>GAT	p.D1687D	GREB1_uc002rbp.1_Silent_p.D685D	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1687						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGGCCCCCGACATCATGCACT	0.617													T	11774326	C	T	11774326	2	4	49	1	0	0	0	0	0	0	0	1	6760	477	17	4		4	GREB1	2	11774326	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	67690	11774326	231425047	172	39053											
RAD51AP2	729475	broad.mit.edu	37	chr2	17698737	17698737	+	Frame_Shift_Del	DEL	T	T	-													aatgttttccgcttctacagTttttttatcattctgtaact							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:17698737delT	uc002rcl.1	-	1	970	c.946delA	c.(946-948)ACTfs	p.T316fs	RAD51AP2_uc010exn.1_Frame_Shift_Del_p.T307fs	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	316										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCTTCTACAGTTTTTTTATCA	0.328													-	17698737	T	-	17698737	7	5	49	1	0	1	0	1	0	0	0	0	12987	1725	60	0	2545	0	RAD51AP2	2	17698737	Frame_Shift_Del	DEL	T	TCGA-BR-7707-01A-11D-2053-08	5924411	17698737	225500636	173	39054											
GEN1	348654	broad.mit.edu	37	chr2	17952518	17952518	+	Frame_Shift_Del	DEL	A	A	-													gtccacaactgctagtcactAaaaaactggctcattgttcc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:17952517_17952517TA>T	uc002rct.2	+	6	838	c.765_765TA>T	c.(763-765)actfs	p.T255fs	SMC6_uc010exo.3_Intron|GEN1_uc010yjs.1_Frame_Shift_Del_p.T255fs|GEN1_uc002rcu.2_Frame_Shift_Del_p.T255fs	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Homo sapiens Gen endonuclease homolog 1 (Drosophila) (GEN1), transcript variant 1, mRNA.	255					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGCTAGTCACTAAAAAACTGG	0.348								Homologous recombination					-	17952518	A	-	17952518	7	5	49	1	0	1	0	1	0	0	0	0	6335	363	13	0	788	0	GEN1	2	17952518	Frame_Shift_Del	DEL	A	TCGA-BR-7707-01A-11D-2053-08	253781	17952518	225246855	174	39055											
LAPTM4A	9741	broad.mit.edu	37	chr2	20251253	20251253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtagaaccggtcactgCggttccgcttgaaactcatg	11	11	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:20251253C>T	uc002rdm.2	-	1	537	c.29G>A	c.(28-30)CGC>CAC	p.R10H	LAPTM4A_uc002rdn.2_5'UTR|LAPTM4A_uc010yjx.1_Missense_Mutation_p.R10H	NM_014713	NP_055528	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	10					transport	endomembrane system|Golgi apparatus|integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGGTCACTGCGGTTCCGCTT	0.627													T	20251253	C	T	20251253	3	4	49	1	0	0	0	0	1	0	0	0	8624	768	27	1	700	1	LAPTM4A	2	20251253	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2298735	20251253	222948120	175	39056											
GDF7	151449	broad.mit.edu	37	chr2	20871149	20871149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgttgtctacaagcaataCgaggacatggtggtggaggc	14	7	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:20871149C>T	uc002rdz.1	+	2	1893	c.1317C>T	c.(1315-1317)TAC>TAT	p.Y439Y		NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7 preproprotein	439					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAAGCAATACGAGGACATGG	0.687													T	20871149	C	T	20871149	2	4	49	1	0	0	0	0	0	0	0	1	6318	547	19	1		1	GDF7	2	20871149	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	619896	20871149	222328224	176	39057											
APOB	338	broad.mit.edu	37	chr2	21228086	21228086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagtctacctcaaagcgtGcagtcagtgcttgaaaggaa	12	8	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:21228086G>A	uc002red.2	-	26	11782	c.11654C>T	c.(11653-11655)GCA>GTA	p.A3885V		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3885					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTCAAAGCGTGCAGTCAGTGC	0.468													A	21228086	G	A	21228086	3	1	49	1	0	0	0	0	1	0	0	0	785	1319	46	2	2053	2	APOB	2	21228086	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	356937	21228086	221971287	177	39058											
APOB	338	broad.mit.edu	37	chr2	21232835	21232835	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tttcaaatgaaattgtagttCccaattgatctaaaagcact	5	7	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:21232835C>A	uc002red.2	-	26	7033	c.6905G>T	c.(6904-6906)GGA>GTA	p.G2302V		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2302					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AATTGTAGTTCCCAATTGATC	0.328													A	21232835	C	A	21232835	3	1	49	1	0	0	0	0	1	0	0	0	785	855	30	5	6802	5	APOB	2	21232835	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	4749	21232835	221966538	178	39059											
APOB	338	broad.mit.edu	37	chr2	21233839	21233839	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtaagcagggcactgacTttgtgttcaagagctgcact	13	8	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:21233839T>G	uc002red.2	-	26	6029	c.5901A>C	c.(5899-5901)AAA>AAC	p.K1967N		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1967					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGGCACTGACTTTGTGTTCAA	0.453													G	21233839	T	G	21233839	3	3	49	1	0	0	0	0	1	0	0	0	785	1606	56	5	7806	5	APOB	2	21233839	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1004	21233839	221965534	179	39060											
MFSD2B	388931	broad.mit.edu	37	chr2	24244805	24244805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccaccctacctgaagctgGtgatctccttcctgttcatc	6	16	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:24244805G>A	uc002reo.1	+	8	873	c.859G>A	c.(859-861)GTG>ATG	p.V287M		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing	287	Helical; (Potential).				transport	integral to membrane				ovary(2)	2						CCTGAAGCTGGTGATCTCCTT	0.617													A	24244805	G	A	24244805	3	1	49	1	0	0	0	0	1	0	0	0	9531	1261	44	4	889	4	MFSD2B	2	24244805	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	3010966	24244805	218954568	180	39061											
HADHA	3030	broad.mit.edu	37	chr2	26414471	26414471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacaaatcttgtcaccaggCggaactggatgtcttcgtct	9	11	5	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:26414471C>T	uc002rgy.2	-	19	2157	c.2027G>A	c.(2026-2028)CGC>CAC	p.R676H	HADHA_uc010yks.1_Missense_Mutation_p.R589H	NM_000182	NP_000173	P40939	ECHA_HUMAN	mitochondrial trifunctional protein, alpha	676					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TGTCACCAGGCGGAACTGGAT	0.532													T	26414471	C	T	26414471	3	4	49	1	0	0	0	0	1	0	0	0	6943	768	27	1	272	1	HADHA	2	26414471	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2169666	26414471	216784902	181	39062											
OTOF	9381	broad.mit.edu	37	chr2	26684998	26684998	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccctgtgaagaagtcgtcGtcctccaagaccacctcatc	7	16	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:26684998G>A	uc002rhk.2	-	42	5371	c.5244C>T	c.(5242-5244)GAC>GAT	p.D1748D	OTOF_uc010yla.1_Silent_p.D478D|OTOF_uc002rhh.2_Silent_p.D981D|OTOF_uc002rhi.2_Silent_p.D1058D|OTOF_uc002rhj.2_Silent_p.D981D	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1748	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAGTCGTCGTCCTCCAAGA	0.607													A	26684998	G	A	26684998	2	1	49	1	0	0	0	0	0	0	0	1	11303	1136	40	1		1	OTOF	2	26684998	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	270527	26684998	216514375	182	39063											
C2orf70	339778	broad.mit.edu	37	chr2	26802284	26802284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcggaaaaagagagactGctactttgagttcagagcat	13	6	1	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:26802284G>A	uc010eyn.2	+	4	584	c.584G>A	c.(583-585)TGC>TAC	p.C195Y		NM_001105519	NP_001098989	A6NJV1	CB070_HUMAN	hypothetical protein LOC339778	195										skin(1)	1						AAGAGAGACTGCTACTTTGAG	0.502													A	26802284	G	A	26802284	3	1	49	1	0	0	0	0	1	0	0	0	2190	1319	46	2	598	2	C2orf70	2	26802284	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	117286	26802284	216397089	183	39064											
AGBL5	60509	broad.mit.edu	37	chr2	27276774	27276774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcttcagatgacagagaCgcagtttgtgttatcctttg	10	8	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:27276774C>T	uc002rie.2	+	4	615	c.398C>T	c.(397-399)ACG>ATG	p.T133M	AGBL5_uc002ric.2_Missense_Mutation_p.T133M|AGBL5_uc002rid.2_Missense_Mutation_p.T133M|AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	133					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGACAGAGACGCAGTTTGTG	0.552													T	27276774	C	T	27276774	3	4	49	1	0	0	0	0	1	0	0	0	378	536	19	1	408	1	AGBL5	2	27276774	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	474490	27276774	215922599	184	39065											
AGBL5	60509	broad.mit.edu	37	chr2	27282134	27282136	+	In_Frame_Del	DEL	AGC	AGC	-													ccggcacaagtgccggtggtAgcagcagcagccaacaaaat							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:27282133_27282135TAGC>T	uc002rie.3	+	10	2167_2169	c.1950_1952TAGC>T	c.(1948-1953)ggtagc>ggTc	p.S654del	AGBL5_uc002rid.3_In_Frame_Del_p.S654del|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	654	Poly-Ser.				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGCCGGTGGTAGCAGCAGCAGC	0.552													-	27282136	AGC	-	27282134	7	5	49	1	0	1	0	1	0	0	0	0	378	420	15	0	1989	0	AGBL5	2	27282134	In_Frame_Del	DEL	AGC	TCGA-BR-7707-01A-11D-2053-08	5360	27282134	215917239	185	39066											
EMILIN1	11117	broad.mit.edu	37	chr2	27307392	27307392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaagagggccccatcggGccaccaggtatgtgcactga	15	12	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:27307392G>A	uc002rii.3	+	5	2978	c.2550G>A	c.(2548-2550)GGG>GGA	p.G850G	EMILIN1_uc002rik.3_Silent_p.G85G|KHK_uc002ril.2_5'Flank|KHK_uc002rim.2_5'Flank|KHK_uc002rin.2_5'Flank|KHK_uc002rio.2_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	850	Collagen-like.|Potential.				cell adhesion	collagen		p.G850R(1)		pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCCATCGGGCCACCAGGTA	0.687													A	27307392	G	A	27307392	2	1	49	1	0	0	0	0	0	0	0	1	5093	1190	42	2		2	EMILIN1	2	27307392	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	25258	27307392	215891981	186	39067											
GTF3C2	2976	broad.mit.edu	37	chr2	27566379	27566379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcatgttccccacggggcCggcctcccccagggcaacat	11	17	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:27566379C>T	uc002rjv.1	-	3	406	c.43G>A	c.(43-45)GGC>AGC	p.G15S	GTF3C2_uc002rju.1_Missense_Mutation_p.G26S|GTF3C2_uc002rjw.1_Missense_Mutation_p.G15S|GTF3C2_uc010eyz.1_Missense_Mutation_p.G15S	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	15						transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCACGGGGCCGGCCTCCCCC	0.557													T	27566379	C	T	27566379	3	4	49	1	0	0	0	0	1	0	0	0	6873	652	23	1	2764	1	GTF3C2	2	27566379	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	258987	27566379	215632994	187	39068											
IFT172	26160	broad.mit.edu	37	chr2	27702965	27702965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattggtaatctccttgggCtttgcctcttcccagatgct	8	11	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:27702965C>T	uc002rku.2	-	9	888	c.837G>A	c.(835-837)AAG>AAA	p.K279K	IFT172_uc002rkw.2_Silent_p.K279K|IFT172_uc010yls.1_Silent_p.K258K|IFT172_uc010ezc.2_Silent_p.K279K|IFT172_uc002rkv.2_Silent_p.K279K	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	279					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					TCTCCTTGGGCTTTGCCTCTT	0.478													T	27702965	C	T	27702965	2	4	49	1	0	0	0	0	0	0	0	1	7557	796	28	2		2	IFT172	2	27702965	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	136586	27702965	215496408	188	39069											
CCDC121	79635	broad.mit.edu	37	chr2	27850186	27850186	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttcccagtagcctcctgtCtggctcgctcagttgtttct	8	14	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:27850186C>T	uc002rle.2	-	2	662	c.481G>A	c.(481-483)GAC>AAC	p.D161N	ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_Missense_Mutation_p.D325N|CCDC121_uc002rld.2_Missense_Mutation_p.D323N|GPN1_uc010ezf.2_5'Flank|GPN1_uc010yma.1_5'Flank|GPN1_uc010ymb.1_5'Flank|GPN1_uc010ymc.1_5'Flank|GPN1_uc010ymd.1_5'Flank|GPN1_uc010yme.1_5'Flank|GPN1_uc010ezg.1_5'Flank	NM_024584	NP_078860	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121 isoform 3	161	Potential.										0	Acute lymphoblastic leukemia(172;0.155)					AGCCTCCTGTCTGGCTCGCTC	0.478													T	27850186	C	T	27850186	3	4	49	1	0	0	0	0	1	0	0	0	2757	913	32	4	359	4	CCDC121	2	27850186	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	147221	27850186	215349187	189	39070											
FOSL2	2355	broad.mit.edu	37	chr2	28627100	28627100	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctccatgtccaacccatacCctcgctcgcacccctacagc	4	22	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:28627100C>A	uc002rma.2	+	2	1038	c.229C>A	c.(229-231)CCT>ACT	p.P77T	FOSL2_uc010ymi.1_Missense_Mutation_p.P38T	NM_005253	NP_005244	P15408	FOSL2_HUMAN	FOS-like antigen 2	77					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(172;0.155)					CAACCCATACCCTCGCTCGCA	0.627													A	28627100	C	A	28627100	3	1	49	1	0	0	0	0	1	0	0	0	5988	623	22	5	235	5	FOSL2	2	28627100	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	776914	28627100	214572273	190	39071											
C2orf71	388939	broad.mit.edu	37	chr2	29296745	29296745	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactctcatctccagaaaagTctgccccttgtgatccatgg	7	14	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:29296745T>C	uc002rmt.1	-	1	383	c.383A>G	c.(382-384)GAC>GGC	p.D128G		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	128					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						TCCAGAAAAGTCTGCCCCTTG	0.468													C	29296745	T	C	29296745	3	2	49	1	0	0	0	0	1	0	0	0	2191	1667	58	3	3491	3	C2orf71	2	29296745	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	669645	29296745	213902628	191	39072											
CLIP4	79745	broad.mit.edu	37	chr2	29379233	29379233	+	Frame_Shift_Del	DEL	A	A	-													gtccaaggattaatgacatcAaaaaaagatagtgcttctga							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:29379233delA	uc002rmv.2	+	10	1418	c.1179delA	c.(1177-1179)TCAfs	p.S393fs	CLIP4_uc002rmu.2_Frame_Shift_Del_p.S393fs|CLIP4_uc010ezm.1_Frame_Shift_Del_p.S393fs|CLIP4_uc002rmw.2_RNA|CLIP4_uc010ymn.1_Frame_Shift_Del_p.S375fs	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	393										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					TAATGACATCAAAAAAAGATA	0.274													-	29379233	A	-	29379233	7	5	49	1	0	1	0	1	0	0	0	0	3535	117	5	0	1213	0	CLIP4	2	29379233	Frame_Shift_Del	DEL	A	TCGA-BR-7707-01A-11D-2053-08	82488	29379233	213820140	192	39073											
FEZ2	9637	broad.mit.edu	37	chr2	36818143	36818143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccataattatctgtcaggGcattccaaatccttaaaaag	5	10	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:36818143G>A	uc002rph.2	-	2	325	c.278C>T	c.(277-279)GCC>GTC	p.A93V	FEZ2_uc002rpf.2_5'UTR|FEZ2_uc002rpg.2_Missense_Mutation_p.A93V|FEZ2_uc002rpi.2_Intron|FEZ2_uc002rpj.2_Missense_Mutation_p.A93V	NM_005102	NP_005093	Q9UHY8	FEZ2_HUMAN	zygin 2 isoform 1	93					axon guidance|signal transduction		protein binding			ovary(1)	1		all_hematologic(82;0.21)				ATCTGTCAGGGCATTCCAAAT	0.368													A	36818143	G	A	36818143	3	1	49	1	0	0	0	0	1	0	0	0	5824	1203	42	2	896	2	FEZ2	2	36818143	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	7438910	36818143	206381230	193	39074											
PRKD3	23683	broad.mit.edu	37	chr2	37483955	37483955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccacatatctagggaacGgttgtaacctttgctccgga	10	10	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:37483955G>A	uc002rqd.2	-	16	2818	c.2263C>T	c.(2263-2265)CGT>TGT	p.R755C	PRKD3_uc002rqe.1_Missense_Mutation_p.R355C	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	755	Protein kinase.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				TCTAGGGAACGGTTGTAACCT	0.433													A	37483955	G	A	37483955	3	1	49	1	0	0	0	0	1	0	0	0	12520	1116	39	1	421	1	PRKD3	2	37483955	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	665812	37483955	205715418	194	39075											
DHX57	90957	broad.mit.edu	37	chr2	39070156	39070156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcatgttacctttatagcGggccaggagctgcttaaaat	11	8	0	0	rs145590165		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:39070156G>A	uc002rrf.2	-	12	2515	c.2416C>T	c.(2416-2418)CGC>TGC	p.R806C	DHX57_uc002rrd.3_Missense_Mutation_p.R190C|DHX57_uc002rre.2_Missense_Mutation_p.R239C	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	806							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)				CCTTTATAGCGGGCCAGGAGC	0.408													A	39070156	G	A	39070156	3	1	49	1	0	0	0	0	1	0	0	0	4513	1116	39	1	1796	1	DHX57	2	39070156	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1586201	39070156	204129217	195	39076											
PPM1B	5495	broad.mit.edu	37	chr2	44428909	44428909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcagcgtgatgatacaaCgtgttaatggttcattagca	12	6	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:44428909C>T	uc002rtt.2	+	2	999	c.571C>T	c.(571-573)CGT>TGT	p.R191C	PPM1B_uc002rts.2_Missense_Mutation_p.R191C|PPM1B_uc002rtu.2_Missense_Mutation_p.R191C|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.R191C|PPM1B_uc002rtx.2_Missense_Mutation_p.R191C	NM_002706	NP_002697	O75688	PPM1B_HUMAN	protein phosphatase 1B isoform 1	191					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GATGATACAACGTGTTAATGG	0.468													T	44428909	C	T	44428909	3	4	49	1	0	0	0	0	1	0	0	0	12336	536	19	1	573	1	PPM1B	2	44428909	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	5358753	44428909	198770464	196	39077											
SLC3A1	6519	broad.mit.edu	37	chr2	44528255	44528255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaatacagcacggagccCggcagatacaggttgaccac	11	13	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:44528255C>T	uc002ruc.3	+	6	1203	c.1125C>T	c.(1123-1125)CCC>CCT	p.P375P	SLC3A1_uc002rty.2_Silent_p.P375P|SLC3A1_uc002rtz.2_Silent_p.P375P|SLC3A1_uc002rua.2_Silent_p.P375P|SLC3A1_uc002rub.2_Silent_p.P375P|SLC3A1_uc002rud.3_Silent_p.P97P|SLC3A1_uc002rue.3_5'Flank	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	375	Extracellular (Potential).				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GCACGGAGCCCGGCAGATACA	0.527													T	44528255	C	T	44528255	2	4	49	1	0	0	0	0	0	0	0	1	14626	639	23	1		1	SLC3A1	2	44528255	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	99346	44528255	198671118	197	39078											
KLRAQ1	129285	broad.mit.edu	37	chr2	48692092	48692092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagaatatagtcagtacaaCgctctgaacgttccactcca	7	11	2	2	rs140345835	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:48692092C>T	uc002rwm.2	+	8	896	c.711C>T	c.(709-711)AAC>AAT	p.N237N	KLRAQ1_uc002rwi.1_Silent_p.N237N|KLRAQ1_uc002rwj.2_Silent_p.N237N|KLRAQ1_uc002rwl.2_Silent_p.N191N|KLRAQ1_uc002rwk.2_Silent_p.N237N|KLRAQ1_uc010yok.1_Silent_p.N237N	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	237										ovary(1)	1						GTCAGTACAACGCTCTGAACG	0.323													T	48692092	C	T	48692092	2	4	49	1	0	0	0	0	0	0	0	1	8413	535	19	1		1	KLRAQ1	2	48692092	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	4163837	48692092	194507281	198	39079											
NRXN1	9378	broad.mit.edu	37	chr2	50170901	50170901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatcgctgggacactctGctgaggccacaaggatgtca	11	12	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:50170901G>A	uc010fbp.2	-	5	1769	c.962C>T	c.(961-963)GCA>GTA	p.A321V	NRXN1_uc002rxb.3_Missense_Mutation_p.A1058V|NRXN1_uc010fbq.2_Missense_Mutation_p.A1426V|NRXN1_uc002rxe.3_Missense_Mutation_p.A1356V|NRXN1_uc010yon.1_Missense_Mutation_p.A21V|NRXN1_uc002rxa.3_Missense_Mutation_p.A21V	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	321	Extracellular (Potential).				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGGACACTCTGCTGAGGCCAC	0.438													A	50170901	G	A	50170901	3	1	49	1	0	0	0	0	1	0	0	0	10665	1319	46	2	374	2	NRXN1	2	50170901	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1478809	50170901	193028472	199	39080											
NRXN1	9378	broad.mit.edu	37	chr2	50464107	50464107	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagatatatgtcgtcccAgctggaaaacaaaaaccaaa	6	9	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:50464107A>G	uc010fbp.2	-	2	1068	c.261T>C	c.(259-261)GCT>GCC	p.A87A	NRXN1_uc002rxb.3_Silent_p.P794P|NRXN1_uc010fbq.2_Silent_p.P1162P|NRXN1_uc002rxe.3_Silent_p.P1122P|NRXN1_uc002rxc.1_RNA	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	87	Extracellular (Potential).				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATGTCGTCCCAGCTGGAAAAC	0.408													G	50464107	A	G	50464107	2	3	49	1	0	0	0	0	0	0	0	1	10665	202	7	3		3	NRXN1	2	50464107	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	293206	50464107	192735266	200	39081											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	49	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-BR-7707-01A-11D-2053-08	3703033	54167140	189032233	201	39082											
BCL11A	53335	broad.mit.edu	37	chr2	60688092	60688092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcgagtacacgttctccGtgttgggcatcgcggccggg	15	12	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:60688092G>A	uc002sae.1	-	4	2183	c.1955C>T	c.(1954-1956)ACG>ATG	p.T652M	BCL11A_uc002sab.2_Missense_Mutation_p.T652M|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.T321M|BCL11A_uc010ypj.1_Missense_Mutation_p.T618M|BCL11A_uc002sad.1_Missense_Mutation_p.T500M|BCL11A_uc002saf.1_Missense_Mutation_p.T618M	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	652					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CACGTTCTCCGTGTTGGGCAT	0.617			T	IGH@	B-CLL								A	60688092	G	A	60688092	3	1	49	1	0	0	0	0	1	0	0	0	1363	1145	40	1	662	1	BCL11A	2	60688092	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	6520952	60688092	182511281	202	39083											
EHBP1	23301	broad.mit.edu	37	chr2	63206338	63206338	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttagcagcaagatgaagagCgacgtcggcagctgagagag	15	8	0	5			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:63206338C>T	uc002sby.2	+	16	3063	c.2581C>T	c.(2581-2583)CGA>TGA	p.R861*	EHBP1_uc010fcp.2_Nonsense_Mutation_p.R826*|EHBP1_uc002sbz.2_Nonsense_Mutation_p.R826*|EHBP1_uc002scb.2_Nonsense_Mutation_p.R826*	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	861	Potential.					cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGATGAAGAGCGACGTCGGCA	0.433									Hereditary_Prostate_Cancer				T	63206338	C	T	63206338	4	4	49	1	0	0	0	0	0	1	0	0	4975	760	27	1	2639	1	EHBP1	2	63206338	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2518246	63206338	179993035	203	39084											
UGP2	7360	broad.mit.edu	37	chr2	64109785	64109788	+	Splice_Site	DEL	AGTG	AGTG	-													ctgactgttcagcaaattgaAgtgagtaacatttagccttt							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:64109784_64109787AAGTG>A	uc010ypx.2	+	4	475	c.468_splice	c.e4+1	p.E156_splice	UGP2_uc002scl.3_Splice_Site_p.E136_splice|UGP2_uc002scm.3_Splice_Site_p.E147_splice	NM_001001521	NP_001001521	Q16851	UGPA_HUMAN	Homo sapiens UDP-glucose pyrophosphorylase 2 (UGP2), transcript variant 2, mRNA.	147					UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycogen biosynthetic process|phosphorylation|xenobiotic metabolic process	cytosol	UTP:glucose-1-phosphate uridylyltransferase activity|metal ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						CAGCAAATTGAAGTGAGTAACATT	0.363													-	64109788	AGTG	-	64109785	8	5	49	1	0	1	0	1	0	0	1	0	16940	86	3	0	455	0	UGP2	2	64109785	Splice_Site	DEL	AGTG	TCGA-BR-7707-01A-11D-2053-08	903447	64109785	179089588	204	39085											
GKN2	200504	broad.mit.edu	37	chr2	69174390	69174390	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctggatgcaatgtagccCtgaggcagcaagagtacagt	12	10	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:69174390C>T	uc002sfa.2	-	4	314	c.205_splice	c.e4-1	p.G69_splice	GKN2_uc002sfb.3_Splice_Site_p.G69_splice	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN	trefoil factor interactions(z) 1 precursor							extracellular region					0						CAATGTAGCCCTGAGGCAGCA	0.488													T	69174390	C	T	69174390	5	4	49	1	0	0	0	0	0	0	1	0	6425	695	24	4	362	4	GKN2	2	69174390	Splice_Site	SNP	C	TCGA-BR-7707-01A-11D-2053-08	5064605	69174390	174024983	205	39086											
ATP6V1B1	525	broad.mit.edu	37	chr2	71163176	71163176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acacatgcaggcggtcacccGaaactacatcacccaccccc	6	19	2	0	rs143516810		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:71163176G>A	uc002shj.2	+	1	179	c.92G>A	c.(91-93)CGA>CAA	p.R31Q	ATP6V1B1_uc002shi.1_Missense_Mutation_p.R31Q|ATP6V1B1_uc010fdv.2_Missense_Mutation_p.R31Q|ATP6V1B1_uc010fdw.2_RNA	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	31					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1						GCGGTCACCCGAAACTACATC	0.667													A	71163176	G	A	71163176	3	1	49	1	0	0	0	0	1	0	0	0	1178	1058	37	1	94	1	ATP6V1B1	2	71163176	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1988786	71163176	172036197	206	39087											
ATP6V1B1	525	broad.mit.edu	37	chr2	71190412	71190412	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcggggaggatccatcacaCagatccccatcctcaccatg	9	15	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:71190412C>T	uc002shj.2	+	10	1117	c.1030C>T	c.(1030-1032)CAG>TAG	p.Q344*	ATP6V1B1_uc010fdv.2_Intron|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Nonsense_Mutation_p.Q302*	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	344					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1						ATCCATCACACAGATCCCCAT	0.612													T	71190412	C	T	71190412	4	4	49	1	0	0	0	0	0	1	0	0	1178	479	17	4	1068	4	ATP6V1B1	2	71190412	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	27236	71190412	172008961	207	39088											
ZNF638	27332	broad.mit.edu	37	chr2	71577059	71577059	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttagccagacaatgagtcaAtctctgattcctccatctat	6	11	3	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:71577059A>T	uc002shx.2	+	2	1294	c.975A>T	c.(973-975)CAA>CAT	p.Q325H	ZNF638_uc010fec.2_Missense_Mutation_p.Q431H|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.Q325H|ZNF638_uc002shy.2_Missense_Mutation_p.Q325H|ZNF638_uc002shz.2_Missense_Mutation_p.Q325H|ZNF638_uc002sia.2_Missense_Mutation_p.Q325H|ZNF638_uc002sib.1_Missense_Mutation_p.Q325H	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	325					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						CAATGAGTCAATCTCTGATTC	0.423													T	71577059	A	T	71577059	3	4	49	1	0	0	0	0	1	0	0	0	18052	98	4	5	977	5	ZNF638	2	71577059	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	386647	71577059	171622314	208	39089											
DYSF	8291	broad.mit.edu	37	chr2	71762412	71762412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcagtttccctccatgtgCgaaaaaatgaggattcgtat	8	10	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:71762412C>T	uc002sie.2	+	15	1744	c.1368C>T	c.(1366-1368)TGC>TGT	p.C456C	DYSF_uc010feg.2_Silent_p.C487C|DYSF_uc010feh.2_Silent_p.C456C|DYSF_uc002sig.3_Silent_p.C456C|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.C456C|DYSF_uc010fef.2_Silent_p.C487C|DYSF_uc010fei.2_Silent_p.C487C|DYSF_uc010fek.2_Silent_p.C488C|DYSF_uc010fej.2_Silent_p.C457C|DYSF_uc010fel.2_Silent_p.C457C|DYSF_uc010feo.2_Silent_p.C488C|DYSF_uc010fem.2_Silent_p.C457C|DYSF_uc010fen.2_Silent_p.C488C|DYSF_uc002sif.2_Silent_p.C457C	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	456	Cytoplasmic (Potential).|C2 3.		C -> W (in MMD1).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CCTCCATGTGCGAAAAAATGA	0.522													T	71762412	C	T	71762412	2	4	49	1	0	0	0	0	0	0	0	1	4859	776	27	1		1	DYSF	2	71762412	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	185353	71762412	171436961	209	39090											
SFXN5	94097	broad.mit.edu	37	chr2	73198729	73198729	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgatcttggaggagcccacGaggttgccatcgctgtccag	14	12	1	0	rs148361418	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:73198729G>A	uc002siq.2	-	11	842	c.711C>T	c.(709-711)CTC>CTT	p.L237L	SFXN5_uc002sio.2_Silent_p.L129L|SFXN5_uc010yrc.1_Silent_p.L86L|SFXN5_uc002sip.2_Intron|SFXN5_uc010fet.2_Intron|SFXN5_uc010fer.2_RNA|SFXN5_uc010feq.2_Silent_p.L19L|SFXN5_uc010fes.2_Silent_p.L19L	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	sideroflexin 5	237					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			ovary(1)	1						AGGAGCCCACGAGGTTGCCAT	0.612													A	73198729	G	A	73198729	2	1	49	1	0	0	0	0	0	0	0	1	14198	1045	37	1		1	SFXN5	2	73198729	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1436317	73198729	170000644	210	39091											
FBXO41	150726	broad.mit.edu	37	chr2	73490910	73490910	+	Frame_Shift_Del	DEL	C	C	-													atgcgcaggatcagcaggttCcccccagctgccttcagcag							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:73490909_73490909TC>T	uc021vjh.1	-	6	2062	c.1972_1972GA>A	c.(1972-1974)aacfs	p.N658fs		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	Homo sapiens F-box protein 41 (FBXO41), mRNA.	658						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						ATCAGCAGGTTCCCCCCAGCT	0.637													-	73490910	C	-	73490910	7	5	49	1	0	1	0	1	0	0	0	0	5750	842	30	0	680	0	FBXO41	2	73490910	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	292181	73490910	169708463	211	39092											
ALMS1	7840	broad.mit.edu	37	chr2	73747133	73747133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaggttactttttctcgCggcacagatggtaagagaat	10	8	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:73747133C>T	uc002sje.1	+	13	9885	c.9774C>T	c.(9772-9774)CGC>CGT	p.R3258R	ALMS1_uc002sjf.1_Silent_p.R3214R|ALMS1_uc002sjg.2_Silent_p.R2644R|ALMS1_uc002sjh.1_Silent_p.R2644R|ALMS1_uc010fev.1_Silent_p.R73R	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3256					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						CTTTTTCTCGCGGCACAGATG	0.403													T	73747133	C	T	73747133	2	4	49	1	0	0	0	0	0	0	0	1	535	755	27	1		1	ALMS1	2	73747133	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	256223	73747133	169452240	212	39093											
TPRKB	51002	broad.mit.edu	37	chr2	73957738	73957738	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaagatttttcagagaaacCtgatgaccttctacttgaga	9	7	2	5	rs144417465	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:73957738C>A	uc002sjn.2	-	4	501	c.390G>T	c.(388-390)CAG>CAT	p.Q130H	TPRKB_uc002sjm.2_Missense_Mutation_p.Q169H|TPRKB_uc002sjl.2_Missense_Mutation_p.Q97H|TPRKB_uc002sjo.2_Missense_Mutation_p.Q130H|TPRKB_uc010yrm.1_Missense_Mutation_p.Q97H	NM_016058	NP_057142	Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein	130					protein catabolic process	cytosol|nucleus	protein kinase binding			ovary(1)|skin(1)	2						TCAGAGAAACCTGATGACCTT	0.313													A	73957738	C	A	73957738	3	1	49	1	0	0	0	0	1	0	0	0	16417	680	24	5	145	5	TPRKB	2	73957738	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	210605	73957738	169241635	213	39094											
TET3	200424	broad.mit.edu	37	chr2	74275076	74275076	+	Frame_Shift_Del	DEL	C	C	-													cctccagggacagcctgctgCcccctactcaggaaatgagg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:74275076delC	uc002skb.3	+	1	1627	c.1627delC	c.(1627-1629)CCCfs	p.P543fs	TET3_uc010fez.1_Frame_Shift_Del_p.P543fs	NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	543							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CAGCCTGCTGCCCCCTACTCA	0.637													-	74275076	C	-	74275076	7	5	49	1	0	1	0	1	0	0	0	0	15768	739	26	0	1629	0	TET3	2	74275076	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	317338	74275076	168924297	214	39095											
TET3	200424	broad.mit.edu	37	chr2	74317124	74317124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaacggctgcaagtatgctCggagcaagacacctcgcaag	11	12	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:74317124C>T	uc002skb.3	+	5	2584	c.2584C>T	c.(2584-2586)CGG>TGG	p.R862W		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	862							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CAAGTATGCTCGGAGCAAGAC	0.607													T	74317124	C	T	74317124	3	4	49	1	0	0	0	0	1	0	0	0	15768	875	31	1	2602	1	TET3	2	74317124	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	42048	74317124	168882249	215	39096											
SEMA4F	10505	broad.mit.edu	37	chr2	74906809	74906809	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagctcagcatgggcatccTgtgtgtggcaccagcccagt	12	13	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:74906809T>C	uc002sna.1	+	14	1897	c.1786T>C	c.(1786-1788)TGT>CGT	p.C596R	SEMA4F_uc010ffr.1_Missense_Mutation_p.C208R|SEMA4F_uc002snb.1_Missense_Mutation_p.C208R|SEMA4F_uc002snc.1_Missense_Mutation_p.C441R	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	596	Ig-like C2-type.|Extracellular (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4						ATGGGCATCCTGTGTGTGGCA	0.592													C	74906809	T	C	74906809	3	2	49	1	0	0	0	0	1	0	0	0	14035	1580	55	3	1840	3	SEMA4F	2	74906809	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	589685	74906809	168292564	216	39097											
LRRTM4	80059	broad.mit.edu	37	chr2	77746704	77746704	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcttcatccactgagctAatgtaattatggtcaagata	7	8	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:77746704A>G	uc002snr.2	-	3	706	c.291T>C	c.(289-291)ATT>ATC	p.I97I	LRRTM4_uc002snq.2_Silent_p.I97I|LRRTM4_uc002sns.2_Silent_p.I97I|LRRTM4_uc002snt.2_Silent_p.I98I	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	97	LRR 2.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		CCACTGAGCTAATGTAATTAT	0.368													G	77746704	A	G	77746704	2	3	49	1	0	0	0	0	0	0	0	1	9042	358	13	3		3	LRRTM4	2	77746704	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	2839895	77746704	165452669	217	39098											
CTNNA2	1496	broad.mit.edu	37	chr2	80874797	80874797	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcatcctatgtggcctcaAccaaataccagaaggtctat	7	11	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:80874797A>G	uc010ysh.1	+	18	2667	c.2662A>G	c.(2662-2664)ACC>GCC	p.T888A	CTNNA2_uc010yse.1_Missense_Mutation_p.T840A|CTNNA2_uc010ysf.1_Missense_Mutation_p.T840A|CTNNA2_uc010ysg.1_Missense_Mutation_p.T795A|CTNNA2_uc010ysi.1_Missense_Mutation_p.T472A|CTNNA2_uc010ysj.1_Missense_Mutation_p.T169A	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	888					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						TGTGGCCTCAACCAAATACCA	0.483													G	80874797	A	G	80874797	3	3	49	1	0	0	0	0	1	0	0	0	4013	43	2	3	2376	3	CTNNA2	2	80874797	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	3128093	80874797	162324576	218	39099											
TCF7L1	83439	broad.mit.edu	37	chr2	85532493	85532493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccatcgtcaagcaggaacCggcaccccccagcctgagcc	9	20	1	1	rs138614113	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:85532493C>T	uc002soy.2	+	8	1030	c.956C>T	c.(955-957)CCG>CTG	p.P319L		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	HMG-box transcription factor TCF-3	319	Pro-rich.				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|breast(1)|central_nervous_system(1)	3						AAGCAGGAACCGGCACCCCCC	0.662													T	85532493	C	T	85532493	3	4	49	1	0	0	0	0	1	0	0	0	15694	652	23	1	986	1	TCF7L1	2	85532493	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	4657696	85532493	157666880	219	39100											
RNF103	7844	broad.mit.edu	37	chr2	86831536	86831536	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagggtgaagccaaaggtcAgggaaagctaagcgctccaa	14	8	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:86831536A>G	uc002srn.2	-	4	2457	c.1488T>C	c.(1486-1488)CCT>CCC	p.P496P	VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Silent_p.P357P|uc002sro.2_Intron	NM_005667	NP_005658	O00237	RN103_HUMAN	ring finger protein 103	496					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)	1						GCCAAAGGTCAGGGAAAGCTA	0.443													G	86831536	A	G	86831536	2	3	49	1	0	0	0	0	0	0	0	1	13423	175	7	3		3	RNF103	2	86831536	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1299043	86831536	156367837	220	39101											
CD8A	925	broad.mit.edu	37	chr2	87017603	87017603	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgagaaccgctgggtgtccAgcccctcggccgccttgggc	14	17	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:87017603A>G	uc002srt.2	-	2	1140	c.251T>C	c.(250-252)CTG>CCG	p.L84P	RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.L84P|CD8A_uc010ytn.1_Missense_Mutation_p.L125P|CD8A_uc002sru.2_Missense_Mutation_p.L84P	NM_001768	NP_001759	P01732	CD8A_HUMAN	CD8 antigen alpha polypeptide isoform 1	84	Ig-like V-type.|Extracellular (Potential).				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			ovary(1)	1						CTGGGTGTCCAGCCCCTCGGC	0.662													G	87017603	A	G	87017603	3	3	49	1	0	0	0	0	1	0	0	0	3044	188	7	3	476	3	CD8A	2	87017603	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	186067	87017603	156181770	221	39102											
RPIA	22934	broad.mit.edu	37	chr2	89034099	89034099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcgatggtgctgatgaaGtagatgctgatctcaatctc	10	9	2	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:89034099G>A	uc002ste.2	+	5	534	c.493G>A	c.(493-495)GTA>ATA	p.V165I		NM_144563	NP_653164	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	165					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			ovary(1)	1		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				TGCTGATGAAGTAGATGCTGA	0.428													A	89034099	G	A	89034099	3	1	49	1	0	0	0	0	1	0	0	0	13553	1029	36	4	511	4	RPIA	2	89034099	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2016496	89034099	154165274	222	39103											
ZNF2	7549	broad.mit.edu	37	chr2	95847304	95847304	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agccttctttgaccgttcgtCcctaactgtccatcagcgaa	7	14	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:95847304C>A	uc002suf.2	+	6	1190	c.728C>A	c.(727-729)TCC>TAC	p.S243Y	ZNF2_uc002sug.2_Missense_Mutation_p.S201Y|ZNF2_uc010yue.1_Missense_Mutation_p.S206Y|ZNF2_uc010fhs.2_Missense_Mutation_p.S164Y	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2 isoform a	243	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		GACCGTTCGTCCCTAACTGTC	0.517													A	95847304	C	A	95847304	3	1	49	1	0	0	0	0	1	0	0	0	17757	855	30	5	745	5	ZNF2	2	95847304	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	6813205	95847304	147352069	223	39104											
INPP4A	3631	broad.mit.edu	37	chr2	99172076	99172076	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattcagcgtgtggacaagCtgctgcagaaggagcggctg	15	9	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:99172076C>T	uc002syy.2	+	17	2035	c.1642C>T	c.(1642-1644)CTG>TTG	p.L548L	INPP4A_uc010yvj.1_Silent_p.L548L|INPP4A_uc010yvk.1_Silent_p.L548L|INPP4A_uc002syx.2_Silent_p.L543L|INPP4A_uc010fik.2_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type 1	548					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			kidney(1)	1						TGTGGACAAGCTGCTGCAGAA	0.582													T	99172076	C	T	99172076	2	4	49	1	0	0	0	0	0	0	0	1	7752	796	28	2		2	INPP4A	2	99172076	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3324772	99172076	144027297	224	39105											
INPP4A	3631	broad.mit.edu	37	chr2	99204042	99204042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaagcattacaggcctcccGaagggacttacggaaaagtt	10	11	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:99204042G>A	uc002syy.2	+	26	3298	c.2905G>A	c.(2905-2907)GAA>AAA	p.E969K	INPP4A_uc010yvk.1_Missense_Mutation_p.E930K|INPP4A_uc002syx.2_Missense_Mutation_p.E964K|INPP4A_uc010fik.2_Missense_Mutation_p.E298K	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type 1	969					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			kidney(1)	1						CAGGCCTCCCGAAGGGACTTA	0.413													A	99204042	G	A	99204042	3	1	49	1	0	0	0	0	1	0	0	0	7752	1059	37	1	3184	1	INPP4A	2	99204042	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	31966	99204042	143995331	225	39106											
TBC1D8	11138	broad.mit.edu	37	chr2	101644825	101644825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtagggctcctggtcgtcGgagaaaaaggcatggtggct	18	7	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:101644825G>A	uc010fiv.2	-	13	2378	c.2247C>T	c.(2245-2247)TCC>TCT	p.S749S	TBC1D8_uc002tau.3_Silent_p.S506S	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	749					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3						CCTGGTCGTCGGAGAAAAAGG	0.587													A	101644825	G	A	101644825	2	1	49	1	0	0	0	0	0	0	0	1	15622	1103	39	1		1	TBC1D8	2	101644825	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2440783	101644825	141554548	226	39107											
NCK2	8440	broad.mit.edu	37	chr2	106498353	106498353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccctgcaccctgcgcacGccccacagataagctacacc	7	20	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:106498353G>A	uc002tdg.2	+	4	1238	c.796G>A	c.(796-798)GCC>ACC	p.A266T	NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Missense_Mutation_p.A266T	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	266					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			ovary(1)|lung(1)	2						CCCTGCGCACGCCCCACAGAT	0.667													A	106498353	G	A	106498353	3	1	49	1	0	0	0	0	1	0	0	0	10220	1087	38	1	802	1	NCK2	2	106498353	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4853528	106498353	136701020	227	39108											
RANBP2	5903	broad.mit.edu	37	chr2	109400128	109400128	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atttgaagatgaaaattttgAtgtgaaacatactggtcctg	9	4	0	5			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:109400128A>T	uc002tem.3	+	29	9572	c.9446A>T	c.(9445-9447)GAT>GTT	p.D3149V		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	3149	PPIase cyclophilin-type.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						GAAAATTTTGATGTGAAACAT	0.343													T	109400128	A	T	109400128	3	4	49	1	0	0	0	0	1	0	0	0	13028	333	12	5	9560	5	RANBP2	2	109400128	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	2901775	109400128	133799245	228	39109											
POLR1B	84172	broad.mit.edu	37	chr2	113332680	113332680	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcccgcatgaccattgggAtgttaattgagagtatggcc	11	9	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:113332680A>G	uc002thw.2	+	15	3362	c.2782A>G	c.(2782-2784)ATG>GTG	p.M928V	POLR1B_uc010fkn.2_Missense_Mutation_p.M872V|POLR1B_uc002thx.2_Missense_Mutation_p.M789V|POLR1B_uc010fko.2_Missense_Mutation_p.M745V|POLR1B_uc010fkp.2_Missense_Mutation_p.M367V|POLR1B_uc010yxn.1_Missense_Mutation_p.M966V|POLR1B_uc002thy.2_Missense_Mutation_p.M789V|POLR1B_uc010yxo.1_Missense_Mutation_p.M705V	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	928					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1						GACCATTGGGATGTTAATTGA	0.502													G	113332680	A	G	113332680	3	3	49	1	0	0	0	0	1	0	0	0	12210	333	12	3	2840	3	POLR1B	2	113332680	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	3932552	113332680	129866693	229	39110											
TFCP2L1	29842	broad.mit.edu	37	chr2	121997199	121997199	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggggcgctgttcacctgGtaggccacgtcgggccatgg	17	12	1	0	rs143023699	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:121997199G>A	uc002tmx.2	-	8	888	c.795C>T	c.(793-795)TAC>TAT	p.Y265Y	TFCP2L1_uc010flr.2_Silent_p.Y265Y	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	LBP-9	265					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			pancreas(2)|ovary(1)	3	Renal(3;0.01)					TGTTCACCTGGTAGGCCACGT	0.627													A	121997199	G	A	121997199	2	1	49	1	0	0	0	0	0	0	0	1	15793	1256	44	4		4	TFCP2L1	2	121997199	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	8664519	121997199	121202174	230	39111											
CLASP1	23332	broad.mit.edu	37	chr2	122215303	122215303	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggtacagttgcttgttaTgacaggtattaacctaggga	12	5	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:122215303T>C	uc002tnc.2	-	14	1735	c.1345A>G	c.(1345-1347)ATA>GTA	p.I449V	CLASP1_uc002tna.2_5'UTR|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.I449V|CLASP1_uc010yza.1_Missense_Mutation_p.I449V|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Missense_Mutation_p.I449V	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	449	HEAT 4.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)					TTGCTTGTTATGACAGGTATT	0.323													C	122215303	T	C	122215303	3	2	49	1	0	0	0	0	1	0	0	0	3454	1464	51	3	3431	3	CLASP1	2	122215303	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	218104	122215303	120984070	231	39112											
SAP130	79595	broad.mit.edu	37	chr2	128774050	128774051	+	Frame_Shift_Ins	INS	-	-	G													taacctgccctggaaccttgINSgggggaagtgacagggtaga							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:128774049_128774050T>TG	uc010fmd.2	-	3	630_631	c.498_499A>CA	c.(496-501)cccaagfs	p.P166fs	SAP130_uc002tpp.2_Frame_Shift_Ins_p.P166fs|SAP130_uc002tpq.1_Frame_Shift_Ins_p.P140fs	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	166	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCTGGAACCTTGGGGGGAAGTG	0.53													G	128774051	-	G	128774050	7	5	49	1	0	1	1	0	0	0	0	0	13831	1335	47	0	2825	0	SAP130	2	128774050	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	6558747	128774050	114425323	232	39113											
POTEF	728378	broad.mit.edu	37	chr2	130877790	130877790	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcagtggcagcaccacTtgcccatcttgttcctgagt	11	12	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:130877790T>G	uc010fmh.2	-	3	699	c.299A>C	c.(298-300)AAG>ACG	p.K100T		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	100						cell cortex	ATP binding	p.K100N(1)		skin(3)|ovary(2)	5						GCAGCACCACTTGCCCATCTT	0.607													G	130877790	T	G	130877790	3	3	49	1	0	0	0	0	1	0	0	0	12265	1609	56	5	2988	5	POTEF	2	130877790	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	2103740	130877790	112321583	233	39114											
GPR39	2863	broad.mit.edu	37	chr2	133403128	133403128	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctagagcccaactcaggcgcGaaaccagccaattctgctgc	9	15	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:133403128G>A	uc002ttl.2	+	2	1780	c.1311G>A	c.(1309-1311)GCG>GCA	p.A437A	LYPD1_uc002ttm.3_3'UTR|LYPD1_uc002ttn.2_3'UTR|LYPD1_uc002tto.2_3'UTR	NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	437						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						ACTCAGGCGCGAAACCAGCCA	0.517													A	133403128	G	A	133403128	2	1	49	1	0	0	0	0	0	0	0	1	6693	1045	37	1		1	GPR39	2	133403128	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2525338	133403128	109796245	234	39115											
LCT	3938	broad.mit.edu	37	chr2	136566490	136566490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactgcagcattcggtcagCggcttccacatctctgggga	12	12	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:136566490C>T	uc002tuu.1	-	8	3438	c.3427G>A	c.(3427-3429)GCT>ACT	p.A1143T		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1143	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATTCGGTCAGCGGCTTCCACA	0.557													T	136566490	C	T	136566490	3	4	49	1	0	0	0	0	1	0	0	0	8693	768	27	1	2396	1	LCT	2	136566490	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3163362	136566490	106632883	235	39116											
KYNU	8942	broad.mit.edu	37	chr2	143715236	143715236	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgagtcacaactacaactTcacggacttaacattgaaga	6	9	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:143715236T>C	uc002tvl.2	+	7	664	c.534T>C	c.(532-534)CTT>CTC	p.L178L	KYNU_uc002tvk.2_Silent_p.L178L|KYNU_uc010fnm.2_Silent_p.L178L	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	178					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AACTACAACTTCACGGACTTA	0.303													C	143715236	T	C	143715236	2	2	49	1	0	0	0	0	0	0	0	1	8587	1770	62	3		3	KYNU	2	143715236	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	7148746	143715236	99484137	236	39117											
ZEB2	9839	broad.mit.edu	37	chr2	145157300	145157300	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtgataacctttcaacTttgaaatttcttcagccttg	5	9	4	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:145157300T>G	uc002tvu.2	-	8	1934	c.1454A>C	c.(1453-1455)AAG>ACG	p.K485T	ZEB2_uc002tvv.2_Missense_Mutation_p.K479T|ZEB2_uc010zbm.1_Missense_Mutation_p.K456T|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.K514T	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	485	SMAD-MH2 binding domain (By similarity).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		ACCTTTCAACTTTGAAATTTC	0.408													G	145157300	T	G	145157300	3	3	49	1	0	0	0	0	1	0	0	0	17621	1609	56	5	2202	5	ZEB2	2	145157300	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1442064	145157300	98042073	237	39118											
RIF1	55183	broad.mit.edu	37	chr2	152324542	152324542	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcctttgcagatccaaTataccaagcaggattggcag	9	10	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:152324542T>C	uc002txm.2	+	31	6759	c.6629T>C	c.(6628-6630)ATA>ACA	p.I2210T	RIF1_uc002txl.2_Missense_Mutation_p.I2210T|RIF1_uc002txn.2_Missense_Mutation_p.I2210T|RIF1_uc002txo.2_Missense_Mutation_p.I2210T|RIF1_uc002txp.2_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	2210	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCAGATCCAATATACCAAGCA	0.353													C	152324542	T	C	152324542	3	2	49	1	0	0	0	0	1	0	0	0	13359	1406	49	3	6747	3	RIF1	2	152324542	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	7167242	152324542	90874831	238	39119											
NR4A2	4929	broad.mit.edu	37	chr2	157182339	157182339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatttcaggtagaaaatgcGctgtagcccctgtgtgcaaa	10	9	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:157182339G>A	uc002tyz.3	-	8	2136	c.1714C>T	c.(1714-1716)CGC>TGC	p.R572C	NR4A2_uc002tyx.3_Missense_Mutation_p.R509C|NR4A2_uc010zcf.1_Missense_Mutation_p.R572C	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	572					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						TAGAAAATGCGCTGTAGCCCC	0.488													A	157182339	G	A	157182339	3	1	49	1	0	0	0	0	1	0	0	0	10633	1087	38	1	86	1	NR4A2	2	157182339	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4857797	157182339	86017034	239	39120											
NR4A2	4929	broad.mit.edu	37	chr2	157185029	157185030	+	Frame_Shift_Ins	INS	-	-	T													taaacacacgtattttgcatINSttttttgcactgtgcgctgc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:157185028_157185029A>AT	uc002tyz.4	-	3	1303_1304	c.881_882T>AT	c.(880-882)aatfs	p.N294fs	NR4A2_uc021vri.1_Frame_Shift_Ins_p.N294fs|NR4A2_uc002tyx.4_Frame_Shift_Ins_p.N231fs|NR4A2_uc010zcf.2_Frame_Shift_Ins_p.N294fs|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA.	294					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CGTATTTTGCATTTTTTTGCAC	0.421													T	157185030	-	T	157185029	7	5	49	1	0	1	1	0	0	0	0	0	10633	1493	52	0	935	0	NR4A2	2	157185029	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	2690	157185029	86014344	240	39121											
FIGN	55137	broad.mit.edu	37	chr2	164467543	164467544	+	Frame_Shift_Ins	INS	-	-	C													gctgaaggcggaggcggtgcINSccccccagggctgtacccag							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:164467542_164467543G>GC	uc002uck.1	-	2	1110_1111	c.799_800C>GC	c.(799-801)gcafs	p.A267fs		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	267	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.A267fs*100(4)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGAGGCGGTGCCCCCCCAGGG	0.609													C	164467544	-	C	164467543	7	5	49	1	0	1	1	0	0	0	0	0	5891	739	26	0	1484	0	FIGN	2	164467543	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	7282514	164467543	78731830	241	39122											
FIGN	55137	broad.mit.edu	37	chr2	164467599	164467599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggatagctagcagacGgatagctgtaactggagagg	17	5	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:164467599G>A	uc002uck.1	-	3	1054	c.743C>T	c.(742-744)CCG>CTG	p.P248L		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	248	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						GCTAGCAGACGGATAGCTGTA	0.607													A	164467599	G	A	164467599	3	1	49	1	0	0	0	0	1	0	0	0	5891	1116	39	1	1540	1	FIGN	2	164467599	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	56	164467599	78731774	242	39123											
CSRNP3	80034	broad.mit.edu	37	chr2	166535234	166535234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcgtatgtctttcccatgCggctgcactaaagaaggatg	11	9	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:166535234C>T	uc002udf.2	+	7	1105	c.729C>T	c.(727-729)TGC>TGT	p.C243C	CSRNP3_uc002udg.2_Silent_p.C243C	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	243	Cys-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						CTTTCCCATGCGGCTGCACTA	0.403													T	166535234	C	T	166535234	2	4	49	1	0	0	0	0	0	0	0	1	3965	776	27	1		1	CSRNP3	2	166535234	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2067635	166535234	76664139	243	39124											
SCN7A	6332	broad.mit.edu	37	chr2	167262882	167262882	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagcatactgttgccaaaGgtttcaaaattagacacatc	7	9	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:167262882G>T	uc002udu.1	-	25	4384	c.4257C>A	c.(4255-4257)ACC>ACA	p.T1419T		NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	1419					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						TGTTGCCAAAGGTTTCAAAAT	0.363													T	167262882	G	T	167262882	2	4	49	1	0	0	0	0	0	0	0	1	13923	987	35	5		5	SCN7A	2	167262882	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	727648	167262882	75936491	244	39125											
XIRP2	129446	broad.mit.edu	37	chr2	168105930	168105930	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatcagcttgcgaaattaaAcaaagtcaccaagaatgtag	7	7	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:168105930A>G	uc002udx.2	+	8	8046	c.8028A>G	c.(8026-8028)AAA>AAG	p.K2676K	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.K2501K|XIRP2_uc010fpq.2_Silent_p.K2454K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Silent_p.K22K	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2501					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GCGAAATTAAACAAAGTCACC	0.378													G	168105930	A	G	168105930	2	3	49	1	0	0	0	0	0	0	0	1	17427	40	2	3		3	XIRP2	2	168105930	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	843048	168105930	75093443	245	39126											
LRP2	4036	broad.mit.edu	37	chr2	170063685	170063685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgactttaagaagaacaCggcggtaagtagtattgatc	11	6	0	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:170063685C>T	uc002ues.2	-	39	6758	c.6545G>A	c.(6544-6546)CGT>CAT	p.R2182H		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2182	LDL-receptor class B 21.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AAGAAGAACACGGCGGTAAGT	0.418													T	170063685	C	T	170063685	3	4	49	1	0	0	0	0	1	0	0	0	8956	536	19	1	7586	1	LRP2	2	170063685	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1957755	170063685	73135688	246	39127											
LRP2	4036	broad.mit.edu	37	chr2	170103435	170103435	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcgctggaaatttggcacCgggaagcagaagtggctgca	14	9	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:170103435C>T	uc002ues.2	-	21	3183	c.2970G>A	c.(2968-2970)CCG>CCA	p.P990P	LRP2_uc010zdf.1_Silent_p.P853P	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	990	EGF-like 4.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AATTTGGCACCGGGAAGCAGA	0.542													T	170103435	C	T	170103435	2	4	49	1	0	0	0	0	0	0	0	1	8956	639	23	1		1	LRP2	2	170103435	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	39750	170103435	73095938	247	39128											
GORASP2	26003	broad.mit.edu	37	chr2	171807902	171807902	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgaaactgtatgtgtacaAcacagacactgataactgtc	7	8	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:171807902A>G	uc002ugk.2	+	5	640	c.500A>G	c.(499-501)AAC>AGC	p.N167S	GORASP2_uc002ugj.2_Missense_Mutation_p.N99S|GORASP2_uc010zdl.1_Missense_Mutation_p.N179S|GORASP2_uc010zdm.1_Missense_Mutation_p.N123S|GORASP2_uc002ugl.2_Missense_Mutation_p.N99S	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2	167						Golgi membrane				breast(1)|central_nervous_system(1)	2						TATGTGTACAACACAGACACT	0.388													G	171807902	A	G	171807902	3	3	49	1	0	0	0	0	1	0	0	0	6576	43	2	3	518	3	GORASP2	2	171807902	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1704467	171807902	71391471	248	39129											
HAT1	8520	broad.mit.edu	37	chr2	172844276	172844276	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agactaattagcccatataaGgtaggactttcaagaatctt	7	7	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:172844276G>T	uc002uhi.2	+	10	1168	c.1092G>T	c.(1090-1092)AAG>AAT	p.K364N	HAT1_uc010fqi.2_Missense_Mutation_p.K199N|HAT1_uc002uhj.2_Missense_Mutation_p.K279N	NM_003642	NP_003633	O14929	HAT1_HUMAN	histone acetyltransferase 1	364					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			large_intestine(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCCCATATAAGGTAGGACTTT	0.338													T	172844276	G	T	172844276	3	4	49	1	0	0	0	0	1	0	0	0	6964	1014	35	5	1130	5	HAT1	2	172844276	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1036374	172844276	70355097	249	39130											
SCRN3	79634	broad.mit.edu	37	chr2	175263039	175263039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttttcctgtgacactttcGtggcattacctccagcaaca	6	13	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:175263039G>A	uc002uiq.2	+	2	116	c.28G>A	c.(28-30)GTG>ATG	p.V10M	CIR1_uc002uim.2_5'Flank|CIR1_uc002uin.2_5'Flank|CIR1_uc002uio.2_5'Flank|CIR1_uc002uip.2_5'Flank|SCRN3_uc010zen.1_Intron|SCRN3_uc010zeo.1_Translation_Start_Site|SCRN3_uc002uir.1_RNA	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	secernin 3	10					proteolysis		dipeptidase activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TGACACTTTCGTGGCATTACC	0.294													A	175263039	G	A	175263039	3	1	49	1	0	0	0	0	1	0	0	0	13940	1145	40	1	30	1	SCRN3	2	175263039	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2418763	175263039	67936334	250	39131											
EVX2	344191	broad.mit.edu	37	chr2	176945561	176945561	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgcgccggttctggaaCcacacctgcggggagagacg	14	12	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:176945561C>T	uc010zeu.1	-	3	891	c.705G>A	c.(703-705)TGG>TGA	p.W235*		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	235	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GGTTCTGGAACCACACCTGCG	0.672													T	176945561	C	T	176945561	4	4	49	1	0	0	0	0	0	1	0	0	5295	508	18	4	727	4	EVX2	2	176945561	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1682522	176945561	66253812	251	39132											
HOXD3	3232	broad.mit.edu	37	chr2	177036780	177036780	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcccggtgtacgtgggCggcaacttcgtcgagtccat	15	12	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:177036780C>T	uc002ukt.1	+	3	1253	c.1077C>T	c.(1075-1077)GGC>GGT	p.G359G		NM_006898	NP_008829	P31249	HXD3_HUMAN	homeobox D3	359					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		TGTACGTGGGCGGCAACTTCG	0.697													T	177036780	C	T	177036780	2	4	49	1	0	0	0	0	0	0	0	1	7323	755	27	1		1	HOXD3	2	177036780	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	91219	177036780	66162593	252	39133											
HOXD1	3231	broad.mit.edu	37	chr2	177054563	177054563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgagtatggggccgctaGcccctccagcgcgatccgca	13	17	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:177054563G>A	uc002ukv.3	+	2	903	c.680G>A	c.(679-681)AGC>AAC	p.S227N	HOXD1_uc010fqy.2_Silent_p.*271*|HOXD1_uc010zez.1_Missense_Mutation_p.S227N	NM_024501	NP_078777	Q9GZZ0	HXD1_HUMAN	homeobox D1	227						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		GGGGCCGCTAGCCCCTCCAGC	0.557													A	177054563	G	A	177054563	3	1	49	1	0	0	0	0	1	0	0	0	7318	971	34	2	686	2	HOXD1	2	177054563	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	17783	177054563	66144810	253	39134											
TTN	7273	broad.mit.edu	37	chr2	179430621	179430621	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaatggctccttctgtaagGttttccactttaaaacttgt	6	8	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:179430621G>A	uc010zfg.1	-	275	72758	c.72534C>T	c.(72532-72534)AAC>AAT	p.N24178N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.N17873N|TTN_uc010zfi.1_Silent_p.N17806N|TTN_uc010zfj.1_Silent_p.N17681N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25105							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCTGTAAGGTTTTCCACTT	0.398													A	179430621	G	A	179430621	2	1	49	1	0	0	0	0	0	0	0	1	16732	1252	44	4		4	TTN	2	179430621	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2376058	179430621	63768752	254	39135											
TTN	7273	broad.mit.edu	37	chr2	179438533	179438533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaatgtgtttagcaaagCcaccaggattagtcgctgta	10	7	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:179438533C>T	uc010zfg.1	-	275	64846	c.64622G>A	c.(64621-64623)GGC>GAC	p.G21541D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G15236D|TTN_uc010zfi.1_Missense_Mutation_p.G15169D|TTN_uc010zfj.1_Missense_Mutation_p.G15044D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22468							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAGCAAAGCCACCAGGATT	0.398													T	179438533	C	T	179438533	3	4	49	1	0	0	0	0	1	0	0	0	16732	739	26	2	35801	2	TTN	2	179438533	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	7912	179438533	63760840	255	39136											
TTN	7273	broad.mit.edu	37	chr2	179440424	179440424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtggaataagatttccGtgttgcttcacgtttctcta	10	8	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:179440424G>A	uc010zfg.1	-	275	62955	c.62731C>T	c.(62731-62733)CGG>TGG	p.R20911W	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R14606W|TTN_uc010zfi.1_Missense_Mutation_p.R14539W|TTN_uc010zfj.1_Missense_Mutation_p.R14414W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21838							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAGATTTCCGTGTTGCTTCA	0.448													A	179440424	G	A	179440424	3	1	49	1	0	0	0	0	1	0	0	0	16732	1144	40	1	37692	1	TTN	2	179440424	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1891	179440424	63758949	256	39137											
TTN	7273	broad.mit.edu	37	chr2	179452031	179452031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgcctcacgtttctccaCgatataatgtgtcacttggc	8	12	4	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:179452031C>T	uc010zfg.1	-	256	56427	c.56203G>A	c.(56203-56205)GTG>ATG	p.V18735M	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V12430M|TTN_uc010zfi.1_Missense_Mutation_p.V12363M|TTN_uc010zfj.1_Missense_Mutation_p.V12238M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19662							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTTTCTCCACGATATAATGT	0.458													T	179452031	C	T	179452031	3	4	49	1	0	0	0	0	1	0	0	0	16732	536	19	1	44296	1	TTN	2	179452031	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	11607	179452031	63747342	257	39138											
TTN	7273	broad.mit.edu	37	chr2	179516199	179516199	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttagcaggtggggcttcTggctttttgggaaccaccag	13	10	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:179516199T>C	uc010zfg.1	-	161	32450	c.32226A>G	c.(32224-32226)CCA>CCG	p.P10742P	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_RNA|TTN_uc002umx.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11669							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGGGCTTCTGGCTTTTTGG	0.478													C	179516199	T	C	179516199	2	2	49	1	0	0	0	0	0	0	0	1	16732	1567	55	3		3	TTN	2	179516199	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	64168	179516199	63683174	258	39139											
TTN	7273	broad.mit.edu	37	chr2	179596108	179596108	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagacatatttcccatcatgCttgacttcaatgccactgag	6	12	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:179596108C>A	uc010zfg.1	-	56	13877	c.13653G>T	c.(13651-13653)AAG>AAT	p.K4551N	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K1212N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5478							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCCATCATGCTTGACTTCAA	0.408													A	179596108	C	A	179596108	3	1	49	1	0	0	0	0	1	0	0	0	16732	796	28	5	87360	5	TTN	2	179596108	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	79909	179596108	63603265	259	39140											
TTN	7273	broad.mit.edu	37	chr2	179606044	179606044	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caaagctgcttgttttctttGaaccatgtaacagtaggggc	10	8	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:179606044G>A	uc010zfh.1	-	46	11627	c.11403C>T	c.(11401-11403)TTC>TTT	p.F3801F	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.F3734F|TTN_uc010zfj.1_Silent_p.F3609F|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTTTCTTTGAACCATGTAA	0.443													A	179606044	G	A	179606044	2	1	49	1	0	0	0	0	0	0	0	1	16732	1281	45	4		4	TTN	2	179606044	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	9936	179606044	63593329	260	39141											
TTN	7273	broad.mit.edu	37	chr2	179633504	179633504	+	Frame_Shift_Del	DEL	T	T	-													tgttcagtgagtgtgtgagcTttttggttctcatctggcac							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:179633503_179633503CT>C	uc021vsy.1	-	37	9285	c.9060_9060AG>G	c.(9058-9060)aagfs	p.K3020fs	TTN_uc021vsz.1_Frame_Shift_Del_p.K2974fs|TTN_uc021vta.1_Frame_Shift_Del_p.K2974fs|TTN_uc021vtb.1_Frame_Shift_Del_p.K2974fs|TTN_uc002unb.2_Frame_Shift_Del_p.K3020fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3020	Ig-like 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGTGTGAGCTTTTTGGTTC	0.428													-	179633504	T	-	179633504	7	5	49	1	0	1	0	1	0	0	0	0	16732	1609	56	0	102229	0	TTN	2	179633504	Frame_Shift_Del	DEL	T	TCGA-BR-7707-01A-11D-2053-08	27460	179633504	63565869	261	39142											
CCDC141	285025	broad.mit.edu	37	chr2	179732925	179732925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctcttgatttgatgagaCgtcccagctacaatttaggg	10	9	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:179732925C>T	uc002unf.1	-	6	734	c.677G>A	c.(676-678)CGT>CAT	p.R226H		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	226							protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTTGATGAGACGTCCCAGCTA	0.418													T	179732925	C	T	179732925	3	4	49	1	0	0	0	0	1	0	0	0	2775	536	19	1	1982	1	CCDC141	2	179732925	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	99421	179732925	63466448	262	39143											
CERKL	375298	broad.mit.edu	37	chr2	182423344	182423344	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgacaggagtcaggattcGgtctgtttccatcccagcat	10	11	3	1	rs121909398	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:182423344G>A	uc002unx.2	-	6	948	c.847C>T	c.(847-849)CGA>TGA	p.R283*	CERKL_uc002uny.2_Nonsense_Mutation_p.R257*|CERKL_uc010zfm.1_Nonsense_Mutation_p.R239*|CERKL_uc002unz.2_Nonsense_Mutation_p.R5*|CERKL_uc002uoa.2_Intron|CERKL_uc002uob.2_Nonsense_Mutation_p.R5*|CERKL_uc002uoc.2_Intron|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Nonsense_Mutation_p.R52*|CERKL_uc002uoe.2_Nonsense_Mutation_p.R257*	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	ceramide kinase-like isoform b	283	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GTCAGGATTCGGTCTGTTTCC	0.483													A	182423344	G	A	182423344	4	1	49	1	0	0	0	0	0	1	0	0	3268	1124	39	1	865	1	CERKL	2	182423344	Nonsense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2690419	182423344	60776029	263	39144											
NEUROD1	4760	broad.mit.edu	37	chr2	182542664	182542664	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtggctttgggcccctgcCagtgtcgctgcaggatagtg	15	12	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:182542664C>T	uc002uof.2	-	2	1160	c.924G>A	c.(922-924)CTG>CTA	p.L308L	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	308					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GGGCCCCTGCCAGTGTCGCTG	0.522													T	182542664	C	T	182542664	2	4	49	1	0	0	0	0	0	0	0	1	10348	581	21	4		4	NEUROD1	2	182542664	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	119320	182542664	60656709	264	39145											
NCKAP1	10787	broad.mit.edu	37	chr2	183902820	183902820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgggctgcagcactgagCgcgacatggtggtgctggtg	18	9	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:183902820C>T	uc002upc.2	-	1	410	c.8G>A	c.(7-9)CGC>CAC	p.R3H	NCKAP1_uc002upb.2_Missense_Mutation_p.R3H	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	3					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CAGCACTGAGCGCGACATGGT	0.557													T	183902820	C	T	183902820	3	4	49	1	0	0	0	0	1	0	0	0	10221	768	27	1	3524	1	NCKAP1	2	183902820	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1360156	183902820	59296553	265	39146											
NUP35	129401	broad.mit.edu	37	chr2	184023121	184023121	+	Frame_Shift_Del	DEL	A	A	-													gaatccatcatgattggtgtAaaaccatgtattgacaaagt							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:184023120_184023120TA>T	uc002upf.3	+	6	822	c.719_719TA>T	c.(718-720)gtafs	p.V240fs	NUP35_uc010zfs.2_Frame_Shift_Del_p.V222fs|NUP35_uc010zft.2_Frame_Shift_Del_p.V122fs|NUP35_uc002upg.3_Non-coding_Transcript	NM_138285	NP_612142	Q8NFH5	NUP53_HUMAN	Homo sapiens nucleoporin 35kDa (NUP35), mRNA.	240	RRM Nup35-type.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						ATGATTGGTGTAAAACCATGT	0.383													-	184023121	A	-	184023121	7	5	49	1	0	1	0	1	0	0	0	0	10763	349	13	0	746	0	NUP35	2	184023121	Frame_Shift_Del	DEL	A	TCGA-BR-7707-01A-11D-2053-08	120301	184023121	59176252	266	39147											
FAM171B	165215	broad.mit.edu	37	chr2	187605049	187605049	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgtttgtaaactacacgaaGacaaattccacagtaactaa	6	8	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:187605049G>A	uc002ups.2	+	2	445	c.333G>A	c.(331-333)AAG>AAA	p.K111K	FAM171B_uc002upr.1_Silent_p.K111K	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	111	Extracellular (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						ACTACACGAAGACAAATTCCA	0.388													A	187605049	G	A	187605049	2	1	49	1	0	0	0	0	0	0	0	1	5491	933	33	4		4	FAM171B	2	187605049	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	3581928	187605049	55594324	267	39148											
FAM171B	165215	broad.mit.edu	37	chr2	187615864	187615864	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtcttcttttataggttTtgaaaacattgaattgactc	6	6	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:187615864T>C	uc002ups.2	+	5	840	c.728T>C	c.(727-729)TTT>TCT	p.F243S	FAM171B_uc002upr.1_Missense_Mutation_p.F243S	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	243	Extracellular (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						TTTATAGGTTTTGAAAACATT	0.308													C	187615864	T	C	187615864	3	2	49	1	0	0	0	0	1	0	0	0	5491	1841	64	3	746	3	FAM171B	2	187615864	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	10815	187615864	55583509	268	39149											
COL5A2	1290	broad.mit.edu	37	chr2	189927974	189927974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagcctggaggacctggaCggccatcttcccctggcgca	14	14	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:189927974C>T	uc002uqk.2	-	27	2068	c.1793G>A	c.(1792-1794)CGT>CAT	p.R598H	COL5A2_uc010frx.2_Missense_Mutation_p.R174H	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	598					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AGGACCTGGACGGCCATCTTC	0.512													T	189927974	C	T	189927974	3	4	49	1	0	0	0	0	1	0	0	0	3697	536	19	1	2818	1	COL5A2	2	189927974	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2312110	189927974	53271399	269	39150											
STAT4	6775	broad.mit.edu	37	chr2	191897688	191897688	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagaaaaacctaaccttcGcaaggctgagagctgtagtg	10	9	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:191897688G>A	uc002usm.1	-	21	2294	c.2040C>T	c.(2038-2040)TGC>TGT	p.C680C	STAT4_uc002usn.1_Silent_p.C680C|STAT4_uc010zgk.1_Silent_p.C525C|STAT4_uc002uso.2_Silent_p.C680C	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	680					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CCTAACCTTCGCAAGGCTGAG	0.363													A	191897688	G	A	191897688	2	1	49	1	0	0	0	0	0	0	0	1	15266	1079	38	1		1	STAT4	2	191897688	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1969714	191897688	51301685	270	39151											
SDPR	8436	broad.mit.edu	37	chr2	192701019	192701019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcatggctttctccctctCggactttcttccgcccgaaa	7	16	3	0	rs146564406		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:192701019C>T	uc002utb.2	-	2	1238	c.908G>A	c.(907-909)CGA>CAA	p.R303Q		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	303						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TTCTCCCTCTCGGACTTTCTT	0.483													T	192701019	C	T	192701019	3	4	49	1	0	0	0	0	1	0	0	0	13970	884	31	1	373	1	SDPR	2	192701019	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	803331	192701019	50498354	271	39152											
DNAH7	56171	broad.mit.edu	37	chr2	196642652	196642653	+	Frame_Shift_Del	DEL	CT	CT	-													ccggtcccagtcatcggtcaCtctgcctccgtaattgcatt							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:196642651_196642652ACT>A	uc002utj.4	-	58	11037_11038	c.10936_10937AGT>T	c.(10936-10938)gtgfs	p.V3646fs	DNAH7_uc002uti.4_Frame_Shift_Del_p.V129fs	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3646					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.V3646M(2)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTCATCGGTCACTCTGCCTCCG	0.475													-	196642653	CT	-	196642652	7	5	49	1	0	1	0	1	0	0	0	0	4606	565	20	0	1166	0	DNAH7	2	196642652	Frame_Shift_Del	DEL	CT	TCGA-BR-7707-01A-11D-2053-08	3941633	196642652	46556721	272	39153											
MOBKL3	25843	broad.mit.edu	37	chr2	198415089	198415089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcttattttcatcatcgGcagatatttgatgaatatga	7	6	2	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:198415089G>A	uc002uun.3	+	7	565	c.525G>A	c.(523-525)CGG>CGA	p.R175R	MOBKL3_uc002uum.3_Silent_p.R143R|MOBKL3_uc010fsn.2_Silent_p.R154R|MOBKL3_uc010fso.2_Silent_p.R76R|MOBKL3_uc010zgz.1_Silent_p.R76R	NM_015387	NP_056202	Q9Y3A3	MOBL3_HUMAN	Mps One Binder kinase activator-like 3 isoform	175					transport	Golgi cisterna membrane|perinuclear region of cytoplasm	metal ion binding|protein binding				0			Epithelial(96;0.225)			TTCATCATCGGCAGATATTTG	0.313													A	198415089	G	A	198415089	2	1	49	1	0	0	0	0	0	0	0	1	9687	1190	42	2		2	MOBKL3	2	198415089	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1772437	198415089	44784284	273	39154											
CLK1	1195	broad.mit.edu	37	chr2	201718647	201718647	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaggtttacagcgtctTgaaacatatctgccggcaga	10	9	3	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:201718647T>C	uc002uwe.2	-	12	1471	c.1290A>G	c.(1288-1290)TCA>TCG	p.S430S	CLK1_uc002uwd.2_Silent_p.S253S|CLK1_uc010zhi.1_Silent_p.S472S|CLK1_uc002uwf.2_Silent_p.S204S|CLK1_uc002uwg.2_Silent_p.S279S|CLK1_uc010fsv.2_RNA	NM_004071	NP_004062	P49759	CLK1_HUMAN	CDC-like kinase 1 isoform 1	430	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			pancreas(2)	2						TACAGCGTCTTGAAACATATC	0.303													C	201718647	T	C	201718647	2	2	49	1	0	0	0	0	0	0	0	1	3536	1799	63	3		3	CLK1	2	201718647	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	3303558	201718647	41480726	274	39155											
CASP10	843	broad.mit.edu	37	chr2	202074183	202074183	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccgaggctgacttcctacTtggtctggccactgtcccag	11	14	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:202074183T>G	uc002uxl.1	+	9	1731	c.1313T>G	c.(1312-1314)CTT>CGT	p.L438R	CASP10_uc002uxj.1_Missense_Mutation_p.L438R|CASP10_uc002uxk.1_Missense_Mutation_p.L395R|CASP10_uc010fta.1_Missense_Mutation_p.L371R|CASP10_uc002uxm.1_Missense_Mutation_p.L395R|CASP10_uc010ftb.1_RNA	NM_032974	NP_116756	Q92851	CASPA_HUMAN	caspase 10 isoform b preproprotein	438					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			skin(3)|ovary(1)|pancreas(1)|breast(1)	6						GACTTCCTACTTGGTCTGGCC	0.522													G	202074183	T	G	202074183	3	3	49	1	0	0	0	0	1	0	0	0	2669	1609	56	5	1343	5	CASP10	2	202074183	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	355536	202074183	41125190	275	39156											
ALS2CR4	65062	broad.mit.edu	37	chr2	202496815	202496815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctacaggctggctaatgCcagtgggtgcagtgaataca	13	9	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:202496815C>T	uc002uyh.1	-	8	613	c.512G>A	c.(511-513)GGC>GAC	p.G171D	ALS2CR4_uc002uyg.1_Missense_Mutation_p.G163D|ALS2CR4_uc010zho.1_5'UTR|ALS2CR4_uc010zhp.1_RNA	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	195						integral to membrane	protein binding				0						CTGGCTAATGCCAGTGGGTGC	0.398													T	202496815	C	T	202496815	3	4	49	1	0	0	0	0	1	0	0	0	554	739	26	2	742	2	ALS2CR4	2	202496815	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	422632	202496815	40702558	276	39157											
NBEAL1	65065	broad.mit.edu	37	chr2	204037566	204037566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaaaaacgccaaagctAtgagagaaaagtaagtgctt	9	5	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:204037566A>G	uc002uzt.3	+	40	6559	c.6226A>G	c.(6226-6228)ATG>GTG	p.M2076V	NBEAL1_uc002uzs.3_Missense_Mutation_p.M786V	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	2076	BEACH.						binding			ovary(1)|skin(1)	2						CGCCAAAGCTATGAGAGAAAA	0.313													G	204037566	A	G	204037566	3	3	49	1	0	0	0	0	1	0	0	0	10188	449	16	3	6380	3	NBEAL1	2	204037566	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1540751	204037566	39161807	277	39158											
NBEAL1	65065	broad.mit.edu	37	chr2	204073415	204073415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagattctttatggacacaCcaacgaggtactgagtgtcg	10	9	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:204073415C>T	uc002uzt.3	+	51	7808	c.7475C>T	c.(7474-7476)ACC>ATC	p.T2492I	NBEAL1_uc002uzs.3_Missense_Mutation_p.T1133I|NBEAL1_uc002uzu.2_5'UTR	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	2492	WD 2.						binding			ovary(1)|skin(1)	2						TATGGACACACCAACGAGGTA	0.403													T	204073415	C	T	204073415	3	4	49	1	0	0	0	0	1	0	0	0	10188	507	18	4	7673	4	NBEAL1	2	204073415	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	35849	204073415	39125958	278	39159											
PARD3B	117583	broad.mit.edu	37	chr2	205983664	205983664	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggattctaggactcttcatcCgaggcattgaagacaacagc	10	10	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:205983664C>T	uc002var.1	+	7	907	c.700C>T	c.(700-702)CGA>TGA	p.R234*	PARD3B_uc010fub.1_Nonsense_Mutation_p.R234*|PARD3B_uc002vao.1_Nonsense_Mutation_p.R234*|PARD3B_uc002vap.1_Nonsense_Mutation_p.R234*|PARD3B_uc002vaq.1_Nonsense_Mutation_p.R234*	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	234	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACTCTTCATCCGAGGCATTGA	0.338													T	205983664	C	T	205983664	4	4	49	1	0	0	0	0	0	1	0	0	11444	644	23	1	726	1	PARD3B	2	205983664	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1910249	205983664	37215709	279	39160											
NDUFS1	4719	broad.mit.edu	37	chr2	207006782	207006782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattaagaagataattggaaCgcaaatctgtgctagaaata	8	4	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:207006782C>T	uc002vbe.2	-	12	1272	c.1145G>A	c.(1144-1146)CGT>CAT	p.R382H	NDUFS1_uc010ziq.1_Missense_Mutation_p.R396H|NDUFS1_uc010zir.1_Missense_Mutation_p.R346H|NDUFS1_uc010zis.1_Missense_Mutation_p.R325H|NDUFS1_uc010zit.1_Missense_Mutation_p.R271H|NDUFS1_uc010ziu.1_Missense_Mutation_p.R266H	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	382					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	ATAATTGGAACGCAAATCTGT	0.338													T	207006782	C	T	207006782	3	4	49	1	0	0	0	0	1	0	0	0	10291	536	19	1	1070	1	NDUFS1	2	207006782	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1023118	207006782	36192591	280	39161											
GPR1	2825	broad.mit.edu	37	chr2	207041587	207041587	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtccaggctgatcactgTcaggaaaaaaacactggcaa	11	9	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:207041587T>C	uc002vbl.3	-	3	771	c.385A>G	c.(385-387)ACA>GCA	p.T129A	GPR1_uc010fue.2_Missense_Mutation_p.T129A|GPR1_uc010fuf.2_Missense_Mutation_p.T129A	NM_005279	NP_005270	P46091	GPR1_HUMAN	G protein-coupled receptor 1	129	Helical; Name=3; (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		CTGATCACTGTCAGGAAAAAA	0.458													C	207041587	T	C	207041587	3	2	49	1	0	0	0	0	1	0	0	0	6621	1667	58	3	686	3	GPR1	2	207041587	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	34805	207041587	36157786	281	39162											
ZDBF2	57683	broad.mit.edu	37	chr2	207171520	207171520	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacttttgattctgacccGcctcttctgtcagttactga	7	11	4	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:207171520G>A	uc002vbp.2	+	5	2518	c.2268G>A	c.(2266-2268)CCG>CCA	p.P756P		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	756							nucleic acid binding|zinc ion binding			ovary(3)	3						ATTCTGACCCGCCTCTTCTGT	0.418													A	207171520	G	A	207171520	2	1	49	1	0	0	0	0	0	0	0	1	17596	1074	38	1		1	ZDBF2	2	207171520	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	129933	207171520	36027853	282	39163											
CRYGC	1420	broad.mit.edu	37	chr2	208994365	208994365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggcagtcagtggtggtttCgtagctgcggccctggaagg	19	8	1	0	rs145041511		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:208994365C>T	uc002vco.3	-	2	90	c.52G>A	c.(52-54)GAA>AAA	p.E18K		NM_020989	NP_066269	P07315	CRGC_HUMAN	crystallin, gamma C	18	Beta/gamma crystallin 'Greek key' 1.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens				0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GTGGTGGTTTCGTAGCTGCGG	0.522													T	208994365	C	T	208994365	3	4	49	1	0	0	0	0	1	0	0	0	3916	893	31	1	480	1	CRYGC	2	208994365	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1822845	208994365	34205008	283	39164											
PIKFYVE	200576	broad.mit.edu	37	chr2	209138324	209138324	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagagagagcagaaggaggCcagggagaacagcagccttt	15	8	0	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:209138324C>T	uc002vcz.2	+	3	347	c.189C>T	c.(187-189)GGC>GGT	p.G63G	PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Silent_p.G63G|PIKFYVE_uc002vcv.2_Silent_p.G63G|PIKFYVE_uc002vcw.2_Silent_p.G63G|PIKFYVE_uc002vcx.2_Silent_p.G63G	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	63					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						CAGAAGGAGGCCAGGGAGAAC	0.473													T	209138324	C	T	209138324	2	4	49	1	0	0	0	0	0	0	0	1	11924	726	26	2		2	PIKFYVE	2	209138324	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	143959	209138324	34061049	284	39165											
PIKFYVE	200576	broad.mit.edu	37	chr2	209209854	209209854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtaaagaataccgaaatGccttagaggaattgtctaaa	9	5	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:209209854G>A	uc002vcz.2	+	33	5205	c.5047G>A	c.(5047-5049)GCC>ACC	p.A1683T		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1683					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						ATACCGAAATGCCTTAGAGGA	0.338													A	209209854	G	A	209209854	3	1	49	1	0	0	0	0	1	0	0	0	11924	1319	46	2	5184	2	PIKFYVE	2	209209854	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	71530	209209854	33989519	285	39166											
C2orf67	151050	broad.mit.edu	37	chr2	210887888	210887888	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagtggaaaagcccgtcGttcccaccacaaagactgaa	8	13	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:210887888G>A	uc002vds.2	-	15	2957	c.2749C>T	c.(2749-2751)CGA>TGA	p.R917*	C2orf67_uc002vdt.2_Nonsense_Mutation_p.R875*	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	917										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)		AAAGCCCGTCGTTCCCACCAC	0.378													A	210887888	G	A	210887888	4	1	49	1	0	0	0	0	0	1	0	0	2186	1153	40	1	218	1	C2orf67	2	210887888	Nonsense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1678034	210887888	32311485	286	39167											
MYL1	4632	broad.mit.edu	37	chr2	211179636	211179636	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agttcatccatttagttaccTtaatggcagagaggtcaatt	8	7	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:211179636T>G	uc002vec.2	-	1	260	c.131A>C	c.(130-132)AAG>ACG	p.K44T		NM_079420	NP_524144	P05976	MYL1_HUMAN	fast skeletal myosin alkali light chain 1	44					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			ovary(1)	1				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TTTAGTTACCTTAATGGCAGA	0.318													G	211179636	T	G	211179636	3	3	49	1	0	0	0	0	1	0	0	0	10043	1623	56	5	513	5	MYL1	2	211179636	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	291748	211179636	32019737	287	39168											
CPS1	1373	broad.mit.edu	37	chr2	211442163	211442163	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtttcaggtttgctggtgCtggattatagtaaagactac	12	5	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:211442163C>T	uc002vee.3	+	4	532	c.400C>T	c.(400-402)CTG>TTG	p.L134L	CPS1_uc010fur.2_Silent_p.L140L	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	134	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TTTGCTGGTGCTGGATTATAG	0.383													T	211442163	C	T	211442163	2	4	49	1	0	0	0	0	0	0	0	1	3823	796	28	2		2	CPS1	2	211442163	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	262527	211442163	31757210	288	39169											
SMARCAL1	50485	broad.mit.edu	37	chr2	217285159	217285159	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctttcatttgtcaaagggCgatgcatgctcatctccagg	9	12	4	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:217285159C>T	uc002vgc.3	+	5	1330	c.1000C>T	c.(1000-1002)CGA>TGA	p.R334*	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Nonsense_Mutation_p.R334*|SMARCAL1_uc010fvg.2_Nonsense_Mutation_p.R334*	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	334					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TGTCAAAGGGCGATGCATGCT	0.527									Schimke_Immuno-Osseous_Dysplasia				T	217285159	C	T	217285159	4	4	49	1	0	0	0	0	0	1	0	0	14773	760	27	1	1010	1	SMARCAL1	2	217285159	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	5842996	217285159	25914214	289	39170											
CXCR2	3579	broad.mit.edu	37	chr2	219000083	219000083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttacttttccgaaggaccGtctactcatccaatgttagc	6	12	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:219000083G>A	uc002vgz.1	+	4	784	c.559G>A	c.(559-561)GTC>ATC	p.V187I	CXCR2_uc002vha.1_Missense_Mutation_p.V187I|CXCR2_uc002vhb.1_Missense_Mutation_p.V187I	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	187	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)|breast(1)	2						CCGAAGGACCGTCTACTCATC	0.527													A	219000083	G	A	219000083	3	1	49	1	0	0	0	0	1	0	0	0	4091	1145	40	1	561	1	CXCR2	2	219000083	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1714924	219000083	24199290	290	39171											
AAMP	14	broad.mit.edu	37	chr2	219134766	219134766	+	Frame_Shift_Del	DEL	G	G	-													ggaagcttagggtctccagtGggggggtgtcagcagcagcc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:219134765_219134765TG>T	uc002vhl.3	-	0	129	c.45_45CA>A	c.(43-45)ccafs	p.P15fs	PNKD_uc002vhn.3_5'Flank|AAMP_uc002vhk.3_Frame_Shift_Del_p.P15fs|PNKD_uc002vhm.2_5'Flank	NM_001087	NP_001078	Q13685	AAMP_HUMAN	Homo sapiens angio-associated, migratory cell protein (AAMP), mRNA.	15					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGTCTCCAGTGGGGGGGTGT	0.622													-	219134766	G	-	219134766	7	5	49	1	0	1	0	1	0	0	0	0	17	1348	47	0	1304	0	AAMP	2	219134766	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	134683	219134766	24064607	291	39172											
TTLL4	9654	broad.mit.edu	37	chr2	219614016	219614016	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgctcaagatgtatgtgCgacggccctatagctgccat	11	12	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:219614016C>T	uc002viy.2	+	14	3011	c.2641C>T	c.(2641-2643)CGA>TGA	p.R881*	TTLL4_uc010zkl.1_Nonsense_Mutation_p.R716*|TTLL4_uc010fvx.2_Nonsense_Mutation_p.R817*|TTLL4_uc010zkm.1_Nonsense_Mutation_p.R84*	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	881	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GATGTATGTGCGACGGCCCTA	0.527													T	219614016	C	T	219614016	4	4	49	1	0	0	0	0	0	1	0	0	16726	760	27	1	2687	1	TTLL4	2	219614016	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	479250	219614016	23585357	292	39173											
TTLL4	9654	broad.mit.edu	37	chr2	219617636	219617636	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcttttttgagcagccaCgatatttcaacattctcacc	5	13	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:219617636C>T	uc002viy.2	+	17	3497	c.3127C>T	c.(3127-3129)CGA>TGA	p.R1043*	TTLL4_uc010zkl.1_Nonsense_Mutation_p.R878*|TTLL4_uc010fvx.2_Nonsense_Mutation_p.R979*|TTLL4_uc010zkm.1_Nonsense_Mutation_p.R246*	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1043					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TGAGCAGCCACGATATTTCAA	0.458													T	219617636	C	T	219617636	4	4	49	1	0	0	0	0	0	1	0	0	16726	528	19	1	3185	1	TTLL4	2	219617636	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3620	219617636	23581737	293	39174											
CYP27A1	1593	broad.mit.edu	37	chr2	219679346	219679346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaagcttccagccccacCgctggctgagaaacagccag	10	15	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:219679346C>T	uc002viz.3	+	8	1776	c.1342C>T	c.(1342-1344)CGC>TGC	p.R448C		NM_000784	NP_000775	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A,	448					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CCAGCCCCACCGCTGGCTGAG	0.607													T	219679346	C	T	219679346	3	4	49	1	0	0	0	0	1	0	0	0	4158	652	23	1	1372	1	CYP27A1	2	219679346	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	61710	219679346	23520027	294	39175											
SPEG	10290	broad.mit.edu	37	chr2	220347929	220347929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagaaggccaccccccaGtggggggctctcatcctcct	11	18	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:220347929G>A	uc010fwg.2	+	30	5744	c.5744G>A	c.(5743-5745)AGT>AAT	p.S1915N		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1915					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCACCCCCCAGTGGGGGGCTC	0.672													A	220347929	G	A	220347929	3	1	49	1	0	0	0	0	1	0	0	0	15035	1029	36	4	5874	4	SPEG	2	220347929	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	668583	220347929	22851444	295	39176											
SPEG	10290	broad.mit.edu	37	chr2	220355154	220355154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctttggtgttgtgcgagCgtgccgggagaatgccacgg	17	10	0	1	rs77554911	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:220355154C>T	uc010fwg.2	+	37	8945	c.8945C>T	c.(8944-8946)GCG>GTG	p.A2982V		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2982	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTTGTGCGAGCGTGCCGGGAG	0.662													T	220355154	C	T	220355154	3	4	49	1	0	0	0	0	1	0	0	0	15035	768	27	1	9103	1	SPEG	2	220355154	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	7225	220355154	22844219	296	39177											
GMPPA	29926	broad.mit.edu	37	chr2	220370455	220370455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaatgtgtacatccaccCgaccgccaaggtggccccct	11	15	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:220370455C>T	uc002vlr.2	+	10	940	c.872C>T	c.(871-873)CCG>CTG	p.P291L	GMPPA_uc002vls.2_Missense_Mutation_p.P291L|GMPPA_uc002vlt.2_Missense_Mutation_p.P344L|GMPPA_uc002vlu.2_Missense_Mutation_p.P344L|GMPPA_uc002vlv.2_Missense_Mutation_p.P291L|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Missense_Mutation_p.P291L	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	291					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TACATCCACCCGACCGCCAAG	0.602													T	220370455	C	T	220370455	3	4	49	1	0	0	0	0	1	0	0	0	6494	652	23	1	906	1	GMPPA	2	220370455	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	15301	220370455	22828918	297	39178											
OBSL1	23363	broad.mit.edu	37	chr2	220432656	220432656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcattctctccttccaggaCgtcgagcttccggggcaggc	12	14	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:220432656C>T	uc010fwk.2	-	3	1375	c.1318G>A	c.(1318-1320)GTC>ATC	p.V440I	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.V440I|OBSL1_uc002vmj.2_Missense_Mutation_p.V27I	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	440					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCTTCCAGGACGTCGAGCTTC	0.632													T	220432656	C	T	220432656	3	4	49	1	0	0	0	0	1	0	0	0	10813	536	19	1	4600	1	OBSL1	2	220432656	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	62201	220432656	22766717	298	39179											
SLC4A3	6508	broad.mit.edu	37	chr2	220504282	220504282	+	Frame_Shift_Del	DEL	G	G	-													ctgctcctcattggctccctGggggggctctgtgggctgtt							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:220504281_220504281TG>T	uc002vmo.4	+	19	3391	c.3182_3182TG>T	c.(3181-3183)ctgfs	p.L1061fs	SLC4A3_uc002vmp.4_Frame_Shift_Del_p.L1034fs|SLC4A3_uc010fwm.3_Frame_Shift_Del_p.L584fs	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	1034	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATTGGCTCCCTGGGGGGGCTC	0.642													-	220504282	G	-	220504282	7	5	49	1	0	1	0	1	0	0	0	0	14655	1335	47	0	3257	0	SLC4A3	2	220504282	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	71626	220504282	22695091	299	39180											
KCNE4	23704	broad.mit.edu	37	chr2	223917920	223917920	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttccatggaaggggacagCgtgagctccgagtcctcctc	13	12	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:223917920C>T	uc002vnl.3	+	2	526	c.372C>T	c.(370-372)AGC>AGT	p.S124S		NM_080671	NP_542402	Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related	124	Cytoplasmic (Potential).					integral to membrane	voltage-gated potassium channel activity			ovary(1)	1		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		AAGGGGACAGCGTGAGCTCCG	0.662													T	223917920	C	T	223917920	2	4	49	1	0	0	0	0	0	0	0	1	8025	767	27	1		1	KCNE4	2	223917920	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3413638	223917920	19281453	300	39181											
CUL3	8452	broad.mit.edu	37	chr2	225367719	225367719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgcctgaattcatccatcGttgtgtttgagatgctcata	9	8	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:225367719G>A	uc002vny.2	-	10	1832	c.1448C>T	c.(1447-1449)ACG>ATG	p.T483M	CUL3_uc010zls.1_Missense_Mutation_p.T417M|CUL3_uc010fwy.1_Missense_Mutation_p.T489M|CUL3_uc002vnz.1_5'Flank	NM_003590	NP_003581	Q13618	CUL3_HUMAN	cullin 3	483					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTCATCCATCGTTGTGTTTGA	0.363													A	225367719	G	A	225367719	3	1	49	1	0	0	0	0	1	0	0	0	4056	1145	40	1	886	1	CUL3	2	225367719	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1449799	225367719	17831654	301	39182											
IRS1	3667	broad.mit.edu	37	chr2	227663053	227663053	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggagctgccgctgcagctGcccccaccacctcccgcccc	9	24	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:227663053G>A	uc002voh.3	-	1	454	c.402C>T	c.(400-402)GGC>GGT	p.G134G		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	134	Poly-Gly.|Mediates interaction with PHIP (By similarity).			G -> GG (in Ref. 2; AAB21608).	fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CGCTGCAGCTGCCCCCACCAC	0.667											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	227663053	G	A	227663053	2	1	49	1	0	0	0	0	0	0	0	1	7840	1306	46	2		2	IRS1	2	227663053	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2295334	227663053	15536320	302	39183											
COL4A3	1285	broad.mit.edu	37	chr2	228175562	228175562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcctgcctggaagaattccGagccagcccatttctagaat	8	13	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:228175562G>A	uc002vom.1	+	51	4988	c.4826G>A	c.(4825-4827)CGA>CAA	p.R1609Q	COL4A3_uc002von.1_Intron|COL4A3_uc002voo.1_Intron|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron|COL4A3_uc010fxf.1_Missense_Mutation_p.R25Q	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1609	Collagen IV NC1.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GAAGAATTCCGAGCCAGCCCA	0.463													A	228175562	G	A	228175562	3	1	49	1	0	0	0	0	1	0	0	0	3691	1058	37	1	5028	1	COL4A3	2	228175562	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	512509	228175562	15023811	303	39184											
SP110	3431	broad.mit.edu	37	chr2	231042313	231042313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccgtttccagttctttgCgttccttccttttccttcga	5	13	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:231042313C>T	uc002vqh.3	-	14	1771	c.1531G>A	c.(1531-1533)GCA>ACA	p.A511T	SP110_uc002vqg.3_Missense_Mutation_p.A511T|SP110_uc002vqi.3_Missense_Mutation_p.A511T|SP110_uc010fxk.2_Missense_Mutation_p.A509T|SP110_uc010fxj.2_Missense_Mutation_p.A154T	NM_004509	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform a	511	SAND.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CAGTTCTTTGCGTTCCTTCCT	0.428													T	231042313	C	T	231042313	3	4	49	1	0	0	0	0	1	0	0	0	14961	768	27	1	698	1	SP110	2	231042313	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2866751	231042313	12157060	304	39185											
ECEL1	9427	broad.mit.edu	37	chr2	233349513	233349513	+	Splice_Site	DEL	G	G	-													ggactgggccacactcacgtGgggggtgatcttctgcagct							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:233349512_233349512TG>T	uc002vsv.2	-	5	1264	c.1059_splice	c.e5+1	p.H353_splice	ECEL1_uc010fya.1_Splice_Site_p.H353_splice|ECEL1_uc010fyb.1_Splice_Site_p.H60_splice	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	353					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CACACTCACGTGGGGGGTGAT	0.597													-	233349513	G	-	233349513	8	5	49	1	0	1	0	1	0	0	1	0	4891	1348	47	0	1326	0	ECEL1	2	233349513	Splice_Site	DEL	G	TCGA-BR-7707-01A-11D-2053-08	2307200	233349513	9849860	305	39186											
HDAC4	9759	broad.mit.edu	37	chr2	240056289	240056289	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggcgatgtgtagaggggAagtggagcggccgagccttc	19	7	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:240056289A>G	uc002vyk.3	-	10	1821	c.1029T>C	c.(1027-1029)CTT>CTC	p.L343L	HDAC4_uc010fyz.1_Silent_p.L338L|HDAC4_uc010zoa.1_Silent_p.L338L|HDAC4_uc010fza.2_Silent_p.L343L|HDAC4_uc010fyy.2_Silent_p.L295L|HDAC4_uc010znz.1_Silent_p.L226L|HDAC4_uc010fzb.1_RNA	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	343					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TGTAGAGGGGAAGTGGAGCGG	0.627													G	240056289	A	G	240056289	2	3	49	1	0	0	0	0	0	0	0	1	7009	233	9	3		3	HDAC4	2	240056289	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	6706776	240056289	3143084	306	39187											
ANKMY1	51281	broad.mit.edu	37	chr2	241463640	241463640	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggaagtggccgccctcGtggctgcctgagacgcgtgg	16	13	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:241463640G>A	uc002vyz.1	-	7	1456	c.1227C>T	c.(1225-1227)CAC>CAT	p.H409H	ANKMY1_uc002vza.1_Silent_p.H268H|ANKMY1_uc010fzd.1_Silent_p.H498H|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Silent_p.H268H|ANKMY1_uc002vzd.1_Silent_p.H268H|ANKMY1_uc010fze.1_Silent_p.H78H|ANKMY1_uc002vze.2_Silent_p.H170H	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	409							zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGCCGCCCTCGTGGCTGCCTG	0.637													A	241463640	G	A	241463640	2	1	49	1	0	0	0	0	0	0	0	1	634	1136	40	1		1	ANKMY1	2	241463640	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1407351	241463640	1735733	307	39188											
CAPN10	11132	broad.mit.edu	37	chr2	241533462	241533462	+	Frame_Shift_Del	DEL	G	G	-													tggcaggggctctggagagaGgggtgagtgctggggcctgg					rs150113284	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:241533462delG	uc002vzk.1	+	5	1012	c.828delG	c.(826-828)GAGfs	p.E276fs	CAPN10_uc010zoh.1_Frame_Shift_Del_p.E276fs|CAPN10_uc002vzl.1_Frame_Shift_Del_p.E276fs|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Frame_Shift_Del_p.E148fs|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10 isoform a	276	Calpain catalytic.		E -> G (in a colorectal cancer sample; somatic mutation).		actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	p.E276G(1)|p.E276fs*3(1)		ovary(3)|large_intestine(2)|lung(1)	6		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TCTGGAGAGAGGGGTGAGTGC	0.687													-	241533462	G	-	241533462	7	5	49	1	0	1	0	1	0	0	0	0	2623	991	35	0	846	0	CAPN10	2	241533462	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	69822	241533462	1665911	308	39189											
ANO7	50636	broad.mit.edu	37	chr2	242142788	242142788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggcccgcaggctccacGcctcaaccagcgccaagtcc	11	18	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:242142788G>A	uc002wax.2	+	9	1029	c.926G>A	c.(925-927)CGC>CAC	p.R309H		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	309	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						CAGGCTCCACGCCTCAACCAG	0.682													A	242142788	G	A	242142788	3	1	49	1	0	0	0	0	1	0	0	0	702	1087	38	1	1032	1	ANO7	2	242142788	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	609326	242142788	1056585	309	39190											
THAP4	51078	broad.mit.edu	37	chr2	242572343	242572343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtactgaccgcggctgggcGacagcaggctacttggatag	16	10	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:242572343G>A	uc002wbt.2	-	2	1452	c.1229C>T	c.(1228-1230)TCG>TTG	p.S410L		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	THAP domain containing 4 isoform 1	410							DNA binding|metal ion binding				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GCGGCTGGGCGACAGCAGGCT	0.632													A	242572343	G	A	242572343	3	1	49	1	0	0	0	0	1	0	0	0	15843	1059	37	1	532	1	THAP4	2	242572343	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	429555	242572343	627030	310	39191											
LRRN1	57633	broad.mit.edu	37	chr3	3887325	3887325	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatccaccgcttggctttcCgaagtgtccctgctctggaa	9	14	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:3887325C>T	uc003bpt.3	+	2	1761	c.1000C>T	c.(1000-1002)CGA>TGA	p.R334*	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	334	LRR 10.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CTTGGCTTTCCGAAGTGTCCC	0.493													T	3887325	C	T	3887325	4	4	49	1	0	0	0	0	0	1	0	0	9034	644	23	1	1002	1	LRRN1	3	3887325	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08		3887325	194135105	311	39192											
SUMF1	285362	broad.mit.edu	37	chr3	4418024	4418024	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgacttaccctatggcacAtgtaggatccacctttcttc	6	13	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:4418024A>G	uc003bpz.1	-	8	1029	c.1004T>C	c.(1003-1005)ATG>ACG	p.M335T	SUMF1_uc003bps.1_RNA|SUMF1_uc011ass.1_Missense_Mutation_p.M310T|SUMF1_uc010hby.1_Intron|SUMF1_uc011ast.1_Missense_Mutation_p.M203T	NM_182760	NP_877437	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1 isoform 1	335						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			upper_aerodigestive_tract(1)	1		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CCTATGGCACATGTAGGATCC	0.438													G	4418024	A	G	4418024	3	3	49	1	0	0	0	0	1	0	0	0	15382	217	8	3	128	3	SUMF1	3	4418024	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	530699	4418024	193604406	312	39193											
LMCD1	29995	broad.mit.edu	37	chr3	8590348	8590348	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgccagctcatgcaccagcTccccatctatgaccaggatc	7	18	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:8590348T>C	uc003bqq.2	+	4	596	c.482T>C	c.(481-483)CTC>CCC	p.L161P	LMCD1_uc011atd.1_Missense_Mutation_p.L88P|LMCD1_uc011ate.1_Missense_Mutation_p.L49P|LMCD1_uc011atf.1_Missense_Mutation_p.L88P	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	161	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)		ATGCACCAGCTCCCCATCTAT	0.557													C	8590348	T	C	8590348	3	2	49	1	0	0	0	0	1	0	0	0	8844	1551	54	3	496	3	LMCD1	3	8590348	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	4172324	8590348	189432082	313	39194											
SETD5	55209	broad.mit.edu	37	chr3	9517751	9517751	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccactgcaagggtcaggagtCaagactcagacgggactttc	12	11	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:9517751C>T	uc003brt.2	+	23	4740	c.4305C>T	c.(4303-4305)GTC>GTT	p.V1435V	SETD5_uc003bru.2_Silent_p.V1337V|SETD5_uc003brv.2_Silent_p.V1324V|SETD5_uc010hck.2_Silent_p.V917V|SETD5_uc003brx.2_Silent_p.V1104V	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	1435										ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GGTCAGGAGTCAAGACTCAGA	0.572													T	9517751	C	T	9517751	2	4	49	1	0	0	0	0	0	0	0	1	14134	813	29	4		4	SETD5	3	9517751	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	927403	9517751	188504679	314	39195											
ATP2B2	491	broad.mit.edu	37	chr3	10444026	10444026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccccaccctgggccgtcGcacatcctgaaagaccagat	9	17	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:10444026G>A	uc003bvt.2	-	4	843	c.404C>T	c.(403-405)GCG>GTG	p.A135V	ATP2B2_uc003bvv.2_Missense_Mutation_p.A135V|ATP2B2_uc003bvw.2_Missense_Mutation_p.A135V|ATP2B2_uc010hdp.2_Missense_Mutation_p.A135V|ATP2B2_uc010hdo.2_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	135	Extracellular (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						CTGGGCCGTCGCACATCCTGA	0.572													A	10444026	G	A	10444026	3	1	49	1	0	0	0	0	1	0	0	0	1140	1087	38	1	3407	1	ATP2B2	3	10444026	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	926275	10444026	187578404	315	39196											
ZFYVE20	64145	broad.mit.edu	37	chr3	15116196	15116196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggttctcctgcagagtgCgcacttcatccatgcggccc	11	15	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:15116196C>T	uc003bzm.1	-	14	2062	c.1448G>A	c.(1447-1449)CGC>CAC	p.R483H	ZFYVE20_uc010hek.1_Missense_Mutation_p.R483H	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	483	Necessary for the interaction with RAB4A.|Potential.|Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						CTGCAGAGTGCGCACTTCATC	0.622													T	15116196	C	T	15116196	3	4	49	1	0	0	0	0	1	0	0	0	17663	768	27	1	910	1	ZFYVE20	3	15116196	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	4672170	15116196	182906234	316	39197											
ANKRD28	23243	broad.mit.edu	37	chr3	15756166	15756166	+	Splice_Site	DEL	G	G	-													ggttttcccatctttactctGgggggggaagaaaaaaatta							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:15756165_15756165TG>T	uc003caj.1	-	9	1050	c.907_splice	c.e9-1	p.S303_splice	ANKRD28_uc003cai.1_Splice_Site_p.S149_splice|ANKRD28_uc011avz.1_Splice_Site_p.S149_splice|ANKRD28_uc003cak.1_Splice_Site|ANKRD28_uc011awa.1_Splice_Site|ANKRD28_uc003cal.1_Splice_Site_p.S333_splice|ANKRD28_uc003cam.2_Splice_Site_p.S336_splice	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	303						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ATCTTTACTCTGGGGGGGGAA	0.363													-	15756166	G	-	15756166	8	5	49	1	0	1	0	1	0	0	1	0	656	1363	47	0		0	ANKRD28	3	15756166	Splice_Site	DEL	G	TCGA-BR-7707-01A-11D-2053-08	639970	15756166	182266264	317	39198											
SCN5A	6331	broad.mit.edu	37	chr3	38595862	38595862	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccagcttgacaatacacTcgcctgtgaagatggccaca	9	13	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:38595862T>C	uc003cio.2	-	27	4915	c.4721A>G	c.(4720-4722)GAG>GGG	p.E1574G	SCN5A_uc003cin.2_Missense_Mutation_p.E1573G|SCN5A_uc003cil.3_Missense_Mutation_p.E1574G|SCN5A_uc010hhi.2_Missense_Mutation_p.E1556G|SCN5A_uc010hhk.2_Intron|SCN5A_uc011ayr.1_Missense_Mutation_p.E1520G	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1574	Helical; Name=S2 of repeat IV; (Potential).				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GACAATACACTCGCCTGTGAA	0.493													C	38595862	T	C	38595862	3	2	49	1	0	0	0	0	1	0	0	0	13922	1551	54	3	1337	3	SCN5A	3	38595862	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	22839696	38595862	159426568	318	39199											
CTNNB1	1499	broad.mit.edu	37	chr3	41275204	41275204	+	Frame_Shift_Del	DEL	G	G	-													tgtccttcgggctggtgacaGggaagacatcactgagcctg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:41275203_41275203AG>A	uc010hia.1	+	9	1525	c.1369_1369AG>A	c.(1369-1371)aggfs	p.R457fs	CTNNB1_uc003ckq.2_Frame_Shift_Del_p.R457fs|CTNNB1_uc003ckp.2_Frame_Shift_Del_p.R457fs|CTNNB1_uc003ckr.2_Frame_Shift_Del_p.R457fs|CTNNB1_uc011azf.1_Frame_Shift_Del_p.R450fs|CTNNB1_uc011azg.1_Frame_Shift_Del_p.R385fs|CTNNB1_uc003cks.3_Frame_Shift_Del_p.R60fs|CTNNB1_uc003ckt.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	457					Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGCTGGTGACAGGGAAGACAT	0.502		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				-	41275204	G	-	41275204	7	5	49	1	0	1	0	1	0	0	0	0	4016	1000	35	0	1400	0	CTNNB1	3	41275204	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	2679342	41275204	156747226	319	39200											
C3orf39	84892	broad.mit.edu	37	chr3	43121611	43121611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagagccactcggggttcCggcaacagagatgccgtggg	17	10	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:43121611C>T	uc003cmq.1	-	2	1454	c.1313G>A	c.(1312-1314)CGG>CAG	p.R438Q	C3orf39_uc003cmr.1_Missense_Mutation_p.R438Q	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	glycosyltransferase precursor	438						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)|skin(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		CTCGGGGTTCCGGCAACAGAG	0.637													T	43121611	C	T	43121611	3	4	49	1	0	0	0	0	1	0	0	0	2229	652	23	1	433	1	C3orf39	3	43121611	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1846407	43121611	154900819	320	39201											
MAP4	4134	broad.mit.edu	37	chr3	47958085	47958085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctatttctgagagtaatAccaaatccttggctgggact	8	10	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:47958085A>G	uc003csb.2	-	7	1758	c.1232T>C	c.(1231-1233)GTA>GCA	p.V411A	MAP4_uc003csc.3_Missense_Mutation_p.V411A|MAP4_uc011bbf.1_Missense_Mutation_p.V388A|MAP4_uc003csf.3_Missense_Mutation_p.V428A	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	411	17 X 14 AA tandem repeats.|9.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGAGAGTAATACCAAATCCTT	0.438													G	47958085	A	G	47958085	3	3	49	1	0	0	0	0	1	0	0	0	9258	391	14	3	3637	3	MAP4	3	47958085	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	4836474	47958085	150064345	321	39202											
COL7A1	1294	broad.mit.edu	37	chr3	48629343	48629343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactgaccagtctcacgccGccattccaaccggtagccac	8	18	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:48629343G>A	uc003ctz.2	-	10	1346	c.1345C>T	c.(1345-1347)CGG>TGG	p.R449W		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	449	Nonhelical region (NC1).|Fibronectin type-III 3.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTCTCACGCCGCCATTCCAAC	0.627													A	48629343	G	A	48629343	3	1	49	1	0	0	0	0	1	0	0	0	3704	1086	38	1	7925	1	COL7A1	3	48629343	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	671258	48629343	149393087	322	39203											
WDR6	11180	broad.mit.edu	37	chr3	49050093	49050093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccctgtatctctatgacGtcgaggtcaagtgctgggag	15	9	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:49050093G>A	uc003cvj.2	+	2	1354	c.1216G>A	c.(1216-1218)GTC>ATC	p.V406I	WDR6_uc011bbx.1_Missense_Mutation_p.V277I|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.V350I|WDR6_uc011bbz.1_Missense_Mutation_p.V325I	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	376	WD 6.				cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TCTCTATGACGTCGAGGTCAA	0.577													A	49050093	G	A	49050093	3	1	49	1	0	0	0	0	1	0	0	0	17307	1145	40	1	1222	1	WDR6	3	49050093	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	420750	49050093	148972337	323	39204											
WDR6	11180	broad.mit.edu	37	chr3	49050138	49050138	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctagaggataaacatttcCagtcctactgcctgctggag	10	10	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:49050138C>A	uc003cvj.2	+	2	1399	c.1261C>A	c.(1261-1263)CAG>AAG	p.Q421K	WDR6_uc011bbx.1_Missense_Mutation_p.Q292K|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.Q365K|WDR6_uc011bbz.1_Missense_Mutation_p.Q340K	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	391					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TAAACATTTCCAGTCCTACTG	0.567													A	49050138	C	A	49050138	3	1	49	1	0	0	0	0	1	0	0	0	17307	595	21	5	1267	5	WDR6	3	49050138	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	45	49050138	148972292	324	39205											
USP19	10869	broad.mit.edu	37	chr3	49153200	49153200	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggggttacatgctccatgGgtgtgcgggttgccacactg	15	9	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:49153200G>T	uc003cwd.1	-	10	1501	c.1340C>A	c.(1339-1341)CCC>CAC	p.P447H	USP19_uc003cwa.2_Missense_Mutation_p.P255H|USP19_uc003cvz.3_Missense_Mutation_p.P550H|USP19_uc011bcg.1_Missense_Mutation_p.P538H|USP19_uc003cwb.2_Missense_Mutation_p.P533H|USP19_uc003cwc.1_Missense_Mutation_p.P205H|USP19_uc011bch.1_Missense_Mutation_p.P548H|USP19_uc011bci.1_Missense_Mutation_p.P535H	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	447	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGCTCCATGGGTGTGCGGGT	0.597													T	49153200	G	T	49153200	3	4	49	1	0	0	0	0	1	0	0	0	17047	1232	43	5	2684	5	USP19	3	49153200	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	103062	49153200	148869230	325	39206											
LAMB2	3913	broad.mit.edu	37	chr3	49159273	49159273	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctcagtgcccgctctgcAcctgccatcctctcctgtac	8	18	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:49159273A>G	uc003cwe.2	-	30	5243	c.4944T>C	c.(4942-4944)GGT>GGC	p.G1648G	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1648	Potential.|Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCGCTCTGCACCTGCCATCC	0.552													G	49159273	A	G	49159273	2	3	49	1	0	0	0	0	0	0	0	1	8611	146	6	3		3	LAMB2	3	49159273	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	6073	49159273	148863157	326	39207											
GPX1	2876	broad.mit.edu	37	chr3	49394982	49394982	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgacacaccggagaccaggTgatgagcttggggtcggtca	16	10	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:49394982T>C	uc011bcl.1	-	3	531	c.451A>G	c.(451-453)ACC>GCC	p.T151A	GPX1_uc011bcm.1_3'UTR	NM_000581	NP_000572	P07203	GPX1_HUMAN	glutathione peroxidase 1 isoform 1	151					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	GGAGACCAGGTGATGAGCTTG	0.657													C	49394982	T	C	49394982	3	2	49	1	0	0	0	0	1	0	0	0	6739	1696	59	3	164	3	GPX1	3	49394982	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	235709	49394982	148627448	327	39208											
GMPPB	29925	broad.mit.edu	37	chr3	49759315	49759315	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcacgttctccatgcgtAcctccaggagaggataggcc	11	13	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:49759315A>G	uc003cxk.1	-	9	1178	c.953T>C	c.(952-954)GTA>GCA	p.V318A	AMIGO3_uc003cxj.2_5'Flank|GMPPB_uc003cxl.1_Missense_Mutation_p.V345A	NM_021971	NP_068806	Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B isoform 2	318					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTCCATGCGTACCTCCAGGAG	0.617													G	49759315	A	G	49759315	3	3	49	1	0	0	0	0	1	0	0	0	6495	405	14	3	133	3	GMPPB	3	49759315	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	364333	49759315	148263115	328	39209											
TRAIP	10293	broad.mit.edu	37	chr3	49879890	49879890	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccagctccaaactcactgctCcatggtcttcatcttgctcc	5	17	4	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:49879890C>A	uc003cxs.1	-	6	605	c.499G>T	c.(499-501)GAG>TAG	p.E167*	TRAIP_uc010hla.1_Intron	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	167	Potential.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACTCACTGCTCCATGGTCTTC	0.557													A	49879890	C	A	49879890	4	1	49	1	0	0	0	0	0	1	0	0	16445	864	30	5	950	5	TRAIP	3	49879890	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	120575	49879890	148142540	329	39210											
CAMKV	79012	broad.mit.edu	37	chr3	49898891	49898891	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgagattcctgtgcacgAtcttgagtgagtgcaaatag	11	8	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:49898891A>G	uc003cxt.1	-	5	615	c.422T>C	c.(421-423)ATC>ACC	p.I141T	CAMKV_uc011bcy.1_Missense_Mutation_p.I66T|CAMKV_uc003cxv.1_Missense_Mutation_p.I141T|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Missense_Mutation_p.I141T|CAMKV_uc011bcz.1_Missense_Mutation_p.I104T|CAMKV_uc011bda.1_Intron|CAMKV_uc011bdb.1_RNA	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	141	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCTGTGCACGATCTTGAGTGA	0.592													G	49898891	A	G	49898891	3	3	49	1	0	0	0	0	1	0	0	0	2608	333	12	3	1111	3	CAMKV	3	49898891	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	19001	49898891	148123539	330	39211											
NPRL2	10641	broad.mit.edu	37	chr3	50385556	50385556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaaattctcctctgaccGttcatcaacatgctgcagct	6	14	4	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:50385556G>A	uc003daj.1	-	9	1334	c.931C>T	c.(931-933)CGG>TGG	p.R311W	ZMYND10_uc003dag.1_5'Flank|ZMYND10_uc010hll.1_5'Flank|ZMYND10_uc003dah.1_5'Flank|ZMYND10_uc010hlm.1_5'Flank|NPRL2_uc003dai.1_Missense_Mutation_p.R191W|CYB561D2_uc003dak.2_5'Flank|CYB561D2_uc003dal.2_5'Flank|CYB561D2_uc003dam.2_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	tumor suppressor candidate 4	311					negative regulation of kinase activity		protein binding|protein kinase activity			lung(1)	1						TCCTCTGACCGTTCATCAACA	0.572													A	50385556	G	A	50385556	3	1	49	1	0	0	0	0	1	0	0	0	10597	1159	40	1	223	1	NPRL2	3	50385556	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	486665	50385556	147636874	331	39212											
C3orf18	51161	broad.mit.edu	37	chr3	50603087	50603087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagactcagaggtgggtgggCggctgctgaaccagccccta	15	12	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:50603087C>T	uc003das.2	-	2	495	c.44G>A	c.(43-45)CGC>CAC	p.R15H	C3orf18_uc003dar.2_Missense_Mutation_p.R15H|C3orf18_uc011bdr.1_Intron|C3orf18_uc010hlo.2_Missense_Mutation_p.R15H|C3orf18_uc010hlp.2_Intron|C3orf18_uc003dat.2_Missense_Mutation_p.R15H	NM_016210	NP_057294	Q9UK00	CC018_HUMAN	hypothetical protein LOC51161	15						integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		GGTGGGTGGGCGGCTGCTGAA	0.627													T	50603087	C	T	50603087	3	4	49	1	0	0	0	0	1	0	0	0	2211	768	27	1	460	1	C3orf18	3	50603087	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	217531	50603087	147419343	332	39213											
RAD54L2	23132	broad.mit.edu	37	chr3	51667644	51667644	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtggagtctctggagaggTttaagaccagcagtggcttt	14	6	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:51667644T>G	uc011bdt.1	+	7	1002	c.877T>G	c.(877-879)TTT>GTT	p.F293V	RAD54L2_uc003dbh.2_5'UTR|RAD54L2_uc011bdu.1_5'UTR|RAD54L2_uc003dbj.2_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	293	Helicase ATP-binding.					nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TCTGGAGAGGTTTAAGACCAG	0.517													G	51667644	T	G	51667644	3	3	49	1	0	0	0	0	1	0	0	0	12994	1725	60	5	899	5	RAD54L2	3	51667644	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1064557	51667644	146354786	333	39214											
RAD54L2	23132	broad.mit.edu	37	chr3	51669679	51669679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgtgctgctgatggggtacGagatgtacagactcctcact	13	10	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:51669679G>A	uc011bdt.1	+	9	1338	c.1213G>A	c.(1213-1215)GAG>AAG	p.E405K	RAD54L2_uc003dbh.2_5'UTR|RAD54L2_uc011bdu.1_Missense_Mutation_p.E99K|RAD54L2_uc003dbj.2_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	405	Helicase ATP-binding.					nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GATGGGGTACGAGATGTACAG	0.483													A	51669679	G	A	51669679	3	1	49	1	0	0	0	0	1	0	0	0	12994	1059	37	1	1243	1	RAD54L2	3	51669679	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2035	51669679	146352751	334	39215											
TLR9	54106	broad.mit.edu	37	chr3	52257056	52257056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgaagctccgctgatgcGgttgtccgacaggtccacgt	12	14	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:52257056G>A	uc003dda.1	-	2	1910	c.1276C>T	c.(1276-1278)CGC>TGC	p.R426C	TLR9_uc003ddb.2_Missense_Mutation_p.R523C	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	426	LRR 14.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CCGCTGATGCGGTTGTCCGAC	0.642													A	52257056	G	A	52257056	3	1	49	1	0	0	0	0	1	0	0	0	15955	1116	39	1	1826	1	TLR9	3	52257056	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	587377	52257056	145765374	335	39216											
STAB1	23166	broad.mit.edu	37	chr3	52543930	52543931	+	Frame_Shift_Ins	INS	-	-	G													cgacaaccgcccaggcagtgINSggggggtgtgccagcagggc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:52543929_52543930T>TG	uc003dej.3	+	22	2465_2466	c.2391_2392T>TG	c.(2389-2394)agtgggfs	p.S797fs		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	797					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCCAGGCAGTGGGGGGGTGTG	0.653													G	52543931	-	G	52543930	7	5	49	1	0	1	1	0	0	0	0	0	15236	1348	47	0	2482	0	STAB1	3	52543930	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	286874	52543930	145478500	336	39217											
NT5DC2	64943	broad.mit.edu	37	chr3	52568610	52568610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtggtcttttctagcaaCgtcgacaggctttccaacaa	9	11	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:52568610C>T	uc003deo.2	-	1	484	c.60G>A	c.(58-60)ACG>ACA	p.T20T	NT5DC2_uc003den.2_5'Flank|NT5DC2_uc010hmi.2_5'Flank|NT5DC2_uc010hmj.2_5'UTR|LOC440957_uc003dep.2_5'Flank	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2 isoform 2	20							hydrolase activity|metal ion binding				0				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TTTCTAGCAACGTCGACAGGC	0.592													T	52568610	C	T	52568610	2	4	49	1	0	0	0	0	0	0	0	1	10691	523	19	1		1	NT5DC2	3	52568610	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	24680	52568610	145453820	337	39218											
ERC2	26059	broad.mit.edu	37	chr3	55922525	55922525	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaggcgaggcgtgctttgGtggcatccagttcctgtctg	16	9	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:55922525G>T	uc003dhr.1	-	14	2712	c.2456C>A	c.(2455-2457)ACC>AAC	p.T819N	ERC2_uc003dhq.1_RNA|ERC2_uc003dht.1_Missense_Mutation_p.T298N	NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	819	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCGTGCTTTGGTGGCATCCAG	0.522													T	55922525	G	T	55922525	3	4	49	1	0	0	0	0	1	0	0	0	5211	1261	44	5	433	5	ERC2	3	55922525	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	3353915	55922525	142099905	338	39219											
PDE12	201626	broad.mit.edu	37	chr3	57543266	57543266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcctggccactttctaccGaaagtctaagttcagccttc	8	13	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:57543266G>A	uc003diw.3	+	1	1286	c.1160G>A	c.(1159-1161)CGA>CAA	p.R387Q	PDE12_uc003div.2_Missense_Mutation_p.R387Q	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	387							hydrolase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		ACTTTCTACCGAAAGTCTAAG	0.527													A	57543266	G	A	57543266	3	1	49	1	0	0	0	0	1	0	0	0	11632	1058	37	1	1162	1	PDE12	3	57543266	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1620741	57543266	140479164	339	39220											
SLMAP	7871	broad.mit.edu	37	chr3	57743556	57743556	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccacgctctcgtctggTttgatcacaagacgggcaag	12	11	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:57743556T>G	uc003dje.1	+	1	383	c.178T>G	c.(178-180)TTT>GTT	p.F60V	SLMAP_uc003djc.1_Missense_Mutation_p.F60V|SLMAP_uc003djd.1_Missense_Mutation_p.F60V|SLMAP_uc003djf.1_Missense_Mutation_p.F60V	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	60	Necessary for targeting to centrosomes (By similarity).|Cytoplasmic (Potential).|FHA.				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TCTCGTCTGGTTTGATCACAA	0.493													G	57743556	T	G	57743556	3	3	49	1	0	0	0	0	1	0	0	0	14749	1725	60	5	180	5	SLMAP	3	57743556	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	200290	57743556	140278874	340	39221											
PRICKLE2	166336	broad.mit.edu	37	chr3	64138947	64138947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccctccttcatgatgtagCgctggccgcccagcactgtc	9	16	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:64138947C>T	uc003dmf.2	-	6	1284	c.698G>A	c.(697-699)CGC>CAC	p.R233H		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	233	LIM zinc-binding 2.					cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CATGATGTAGCGCTGGCCGCC	0.507													T	64138947	C	T	64138947	3	4	49	1	0	0	0	0	1	0	0	0	12487	768	27	1	1848	1	PRICKLE2	3	64138947	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	6395391	64138947	133883483	341	39222											
SHQ1	55164	broad.mit.edu	37	chr3	72799562	72799562	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagctcctctatcagaggcCcagacactccaagaggccag	9	15	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:72799562C>A	uc003dpf.2	-	11	1714	c.1607G>T	c.(1606-1608)GGG>GTG	p.G536V	SHQ1_uc010hod.2_Missense_Mutation_p.G447V	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	SHQ1 homolog	536					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			ovary(2)|large_intestine(1)	3		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		TATCAGAGGCCCAGACACTCC	0.517													A	72799562	C	A	72799562	3	1	49	1	0	0	0	0	1	0	0	0	14292	623	22	5	130	5	SHQ1	3	72799562	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	8660615	72799562	125222868	342	39223											
PDZRN3	23024	broad.mit.edu	37	chr3	73453461	73453461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttggtgttcttctcaacAcctgcaccactatgggctcc	7	15	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:73453461A>G	uc003dpl.1	-	4	1100	c.1004T>C	c.(1003-1005)GTG>GCG	p.V335A	PDZRN3_uc011bgh.1_5'UTR|PDZRN3_uc010hoe.1_Missense_Mutation_p.V33A|PDZRN3_uc011bgf.1_Missense_Mutation_p.V52A|PDZRN3_uc011bgg.1_Missense_Mutation_p.V55A	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	335	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCTTCTCAACACCTGCACCAC	0.493													G	73453461	A	G	73453461	3	3	49	1	0	0	0	0	1	0	0	0	11709	159	6	3	2224	3	PDZRN3	3	73453461	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	653899	73453461	124568969	343	39224											
ROBO2	6092	broad.mit.edu	37	chr3	77651597	77651597	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcaaaaaacagatctgAtgggatttggttattctcta	8	6	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:77651597A>T	uc003dpy.3	+	20	3734	c.3091A>T	c.(3091-3093)ATG>TTG	p.M1031L	ROBO2_uc003dpz.2_Missense_Mutation_p.M1035L|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.M1035L|ROBO2_uc003dqa.2_Missense_Mutation_p.M158L	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1031	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AACAGATCTGATGGGATTTGG	0.418													T	77651597	A	T	77651597	3	4	49	1	0	0	0	0	1	0	0	0	13514	333	12	5	3171	5	ROBO2	3	77651597	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	4198136	77651597	120370833	344	39225											
LNP1	348801	broad.mit.edu	37	chr3	100170683	100170683	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatactcagaggatgggTcattcaaggagccactggaa	12	7	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:100170683T>C	uc003dtx.3	+	3	1557	c.277T>C	c.(277-279)TCA>CCA	p.S93P	LNP1_uc003dty.3_RNA|LNP1_uc011bhb.1_RNA	NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	93											0						AGAGGATGGGTCATTCAAGGA	0.448													C	100170683	T	C	100170683	3	2	49	1	0	0	0	0	1	0	0	0	8863	1667	58	3	283	3	LNP1	3	100170683	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	22519086	100170683	97851747	345	39226											
ZBTB11	27107	broad.mit.edu	37	chr3	101370285	101370285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttaagatgctaacagcatGtgccacttgagttccttggt	10	8	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:101370285G>A	uc003dve.3	-	11	3117	c.2887C>T	c.(2887-2889)CAT>TAT	p.H963Y		NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	963					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						CTAACAGCATGTGCCACTTGA	0.433													A	101370285	G	A	101370285	3	1	49	1	0	0	0	0	1	0	0	0	17521	1377	48	4	278	4	ZBTB11	3	101370285	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1199602	101370285	96652145	346	39227											
MORC1	27136	broad.mit.edu	37	chr3	108773717	108773717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattaacaattccaaccacGcctgcgccaagtctgagaaa	6	12	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:108773717G>A	uc003dxl.2	-	14	1275	c.1188C>T	c.(1186-1188)GGC>GGT	p.G396G	MORC1_uc011bhn.1_Silent_p.G396G	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	396					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						TTCCAACCACGCCTGCGCCAA	0.308													A	108773717	G	A	108773717	2	1	49	1	0	0	0	0	0	0	0	1	9701	1074	38	1		1	MORC1	3	108773717	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	7403432	108773717	89248713	347	39228											
C3orf17	25871	broad.mit.edu	37	chr3	112724472	112724472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttatttatttgcatcaccgTccacgaatcagtttcatttt	4	9	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:112724472T>C	uc003dzr.2	-	9	1676	c.1615A>G	c.(1615-1617)ACG>GCG	p.T539A	GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_Missense_Mutation_p.T164A|C3orf17_uc011bhz.1_Missense_Mutation_p.T164A|C3orf17_uc010hqh.2_Missense_Mutation_p.T164A|C3orf17_uc003dzt.2_Missense_Mutation_p.T442A|C3orf17_uc003dzs.2_Missense_Mutation_p.T403A|C3orf17_uc010hqg.2_Missense_Mutation_p.T364A|C3orf17_uc011bia.1_Missense_Mutation_p.T336A|C3orf17_uc003dzu.2_Missense_Mutation_p.T468A|C3orf17_uc011bib.1_Missense_Mutation_p.T428A|C3orf17_uc011bic.1_Missense_Mutation_p.T372A|C3orf17_uc011bid.1_RNA	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	hypothetical protein LOC25871	539						integral to membrane					0						TGCATCACCGTCCACGAATCA	0.353													C	112724472	T	C	112724472	3	2	49	1	0	0	0	0	1	0	0	0	2210	1667	58	3	92	3	C3orf17	3	112724472	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	3950755	112724472	85297958	348	39229											
NAA50	80218	broad.mit.edu	37	chr3	113440776	113440776	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgccgactcattgctgatcTggacatgcctgagatataag	10	9	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:113440776T>G	uc003ean.1	-	5	641	c.341A>C	c.(340-342)CAG>CCG	p.Q114P	NAA50_uc010hqm.1_Missense_Mutation_p.Q40P|NAA50_uc011bij.1_Missense_Mutation_p.Q40P	NM_025146	NP_079422	Q9GZZ1	NAA50_HUMAN	N-acetyltransferase 13	114	N-acetyltransferase.				N-terminal protein amino acid acetylation	cytoplasm	N-acetyltransferase activity|protein binding				0						ATTGCTGATCTGGACATGCCT	0.373													G	113440776	T	G	113440776	3	3	49	1	0	0	0	0	1	0	0	0	10126	1580	55	5	172	5	NAA50	3	113440776	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	716304	113440776	84581654	349	39230											
ZBTB20	26137	broad.mit.edu	37	chr3	114069855	114069855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcctggtctgtgtcttccGtgcactcctcggattcgttg	12	13	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:114069855G>A	uc003ebi.2	-	4	1250	c.1070C>T	c.(1069-1071)ACG>ATG	p.T357M	ZBTB20_uc003ebj.2_Missense_Mutation_p.T284M|ZBTB20_uc010hqp.2_Missense_Mutation_p.T284M|ZBTB20_uc003ebk.2_Missense_Mutation_p.T284M|ZBTB20_uc003ebl.2_Missense_Mutation_p.T284M|ZBTB20_uc003ebm.2_Missense_Mutation_p.T284M|ZBTB20_uc003ebn.2_Missense_Mutation_p.T284M|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGTCTTCCGTGCACTCCTC	0.592													A	114069855	G	A	114069855	3	1	49	1	0	0	0	0	1	0	0	0	17526	1145	40	1	1163	1	ZBTB20	3	114069855	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	629079	114069855	83952575	350	39231											
PLA1A	51365	broad.mit.edu	37	chr3	119316796	119316796	+	Frame_Shift_Del	DEL	G	G	-													tgggagagctgcttctgggtGgggggcctcattttgtggct							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:119316796delG	uc003ecu.2	+	1	75	c.36delG	c.(34-36)GTGfs	p.V12fs	PLA1A_uc003ecv.2_Frame_Shift_Del_p.V12fs|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_5'UTR	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN	phospholipase A1 member A precursor	12					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						GCTTCTGGGTGGGGGGCCTCA	0.512													-	119316796	G	-	119316796	7	5	49	1	0	1	0	1	0	0	0	0	11988	1335	47	0	38	0	PLA1A	3	119316796	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	5246941	119316796	78705634	351	39232											
NR1I2	8856	broad.mit.edu	37	chr3	119528957	119528957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccccttccggaagggcGcctgcgagatcacccggaag	15	14	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:119528957G>A	uc003edj.2	+	3	2086	c.247G>A	c.(247-249)GCC>ACC	p.A83T	NR1I2_uc003edi.2_Missense_Mutation_p.A83T|NR1I2_uc003edk.2_Missense_Mutation_p.A122T|NR1I2_uc003edl.2_5'Flank	NM_003889	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	83	Nuclear receptor.|Bipartite nuclear localization signal.|NR C4-type.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CCGGAAGGGCGCCTGCGAGAT	0.652													A	119528957	G	A	119528957	3	1	49	1	0	0	0	0	1	0	0	0	10620	1087	38	1	374	1	NR1I2	3	119528957	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	212161	119528957	78493473	352	39233											
POLQ	10721	broad.mit.edu	37	chr3	121207489	121207489	+	Frame_Shift_Del	DEL	A	A	-													cagaaacttcattcttttttAaaaaaagaccattttcctcc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:121207489delA	uc003eee.3	-	16	4418	c.4289delT	c.(4288-4290)TTAfs	p.L1430fs	POLQ_uc003eed.2_Frame_Shift_Del_p.L602fs	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1430					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		ATTCTTTTTTAAAAAAAGACC	0.338								DNA_polymerases_(catalytic_subunits)					-	121207489	A	-	121207489	7	5	49	1	0	1	0	1	0	0	0	0	12208	372	13	0	3543	0	POLQ	3	121207489	Frame_Shift_Del	DEL	A	TCGA-BR-7707-01A-11D-2053-08	1678532	121207489	76814941	353	39234											
CASR	846	broad.mit.edu	37	chr3	121976124	121976124	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attctttgaaccttgatgagTtctgcaactgctcagagcac	8	10	3	4	rs104893696		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:121976124T>C	uc003eev.3	+	3	754	c.382T>C	c.(382-384)TTC>CTC	p.F128L	CASR_uc003eew.3_Missense_Mutation_p.F128L	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	128	Extracellular (Potential).		F -> L (in FIH; there is a shift in the dose-response curve so that the extracellular calcium concentration needed to produce half-maximal increase in total inositol phosphate in the cells is significantly lower than the one required for the wild-type receptor).		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCTTGATGAGTTCTGCAACTG	0.483													C	121976124	T	C	121976124	3	2	49	1	0	0	0	0	1	0	0	0	2682	1725	60	3	388	3	CASR	3	121976124	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	768635	121976124	76046306	354	39235											
DIRC2	84925	broad.mit.edu	37	chr3	122591386	122591386	+	Frame_Shift_Del	DEL	T	T	-													attacttgtggagttgtcacTtttttaagtaatatgtttat							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:122591386delT	uc003efw.3	+	8	1402	c.1263delT	c.(1261-1263)ACTfs	p.T421fs	DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Frame_Shift_Del_p.T259fs	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	421	Helical; (Potential).				transport	integral to membrane					0				GBM - Glioblastoma multiforme(114;0.0614)		GAGTTGTCACTTTTTTAAGTA	0.318													-	122591386	T	-	122591386	7	5	49	1	0	1	0	1	0	0	0	0	4534	1596	56	0	1293	0	DIRC2	3	122591386	Frame_Shift_Del	DEL	T	TCGA-BR-7707-01A-11D-2053-08	615262	122591386	75431044	355	39236											
KALRN	8997	broad.mit.edu	37	chr3	124053260	124053260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgttacatcaccagcgacGgctggagagcatctggcagc	14	11	2	1	rs35057827		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:124053260G>A	uc003ehg.2	+	9	1686	c.1559G>A	c.(1558-1560)CGG>CAG	p.R520Q	KALRN_uc010hrv.1_Missense_Mutation_p.R520Q|KALRN_uc003ehf.1_Missense_Mutation_p.R520Q|KALRN_uc011bjy.1_Missense_Mutation_p.R520Q	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	520					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						CACCAGCGACGGCTGGAGAGC	0.622													A	124053260	G	A	124053260	3	1	49	1	0	0	0	0	1	0	0	0	7975	1116	39	1	1593	1	KALRN	3	124053260	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1461874	124053260	73969170	356	39237											
PLXNA1	5361	broad.mit.edu	37	chr3	126723974	126723974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcctgacctctcagctggCgtcaactgctccttcgagga	11	14	2	1	rs145552902		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:126723974C>T	uc003ejg.2	+	6	1720	c.1716C>T	c.(1714-1716)GGC>GGT	p.G572G		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	595	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		TCTCAGCTGGCGTCAACTGCT	0.657													T	126723974	C	T	126723974	2	4	49	1	0	0	0	0	0	0	0	1	12119	755	27	1		1	PLXNA1	3	126723974	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2670714	126723974	71298456	357	39238											
ATP2C1	27032	broad.mit.edu	37	chr3	130735042	130735042	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagctggttgagatacatcCccatctggagacaggactgc	12	11	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:130735042C>A	uc011bli.1	+	28	3093	c.2873C>A	c.(2872-2874)CCC>CAC	p.P958H	ATP2C1_uc011blh.1_Missense_Mutation_p.P929H|ATP2C1_uc003enm.2_3'UTR|ATP2C1_uc003enn.2_Missense_Mutation_p.P908H|ATP2C1_uc003enp.2_3'UTR|ATP2C1_uc003enr.2_3'UTR|ATP2C1_uc003ens.2_Missense_Mutation_p.P934H|ATP2C1_uc003ent.2_Missense_Mutation_p.P924H|ASTE1_uc010htm.1_Missense_Mutation_p.G552V|ASTE1_uc003env.1_Missense_Mutation_p.G552V|ASTE1_uc011blj.1_RNA	NM_001001487	NP_001001487	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1b	Error:Variant_position_missing_in_P98194_after_alignment					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GAGATACATCCCCATCTGGAG	0.522									Hailey-Hailey_disease				A	130735042	C	A	130735042	3	1	49	1	0	0	0	0	1	0	0	0	1143	623	22	5	2917	5	ATP2C1	3	130735042	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	4011068	130735042	67287388	358	39239											
MRPL3	11222	broad.mit.edu	37	chr3	131208833	131208833	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acctcaaattacctggtttaAttgcagcattatctgttata	5	8	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:131208833A>T	uc003eoh.2	-	5	724	c.560T>A	c.(559-561)ATT>AAT	p.I187N	MRPL3_uc011blo.1_Missense_Mutation_p.I82N|MRPL3_uc011blp.1_Missense_Mutation_p.I214N	NM_007208	NP_009139	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	187					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome				0						ACCTGGTTTAATTGCAGCATT	0.363													T	131208833	A	T	131208833	3	4	49	1	0	0	0	0	1	0	0	0	9793	101	4	5	510	5	MRPL3	3	131208833	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	473791	131208833	66813597	359	39240											
NPHP3	27031	broad.mit.edu	37	chr3	132418283	132418284	+	Frame_Shift_Ins	INS	-	-	T													ctatcagccatttcatgtgtINSttttcaacttgcttaaaaat							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:132418282_132418283G>GT	uc003epe.2	-	12	2003_2004	c.1899_1900C>AC	c.(1897-1902)aaacacfs	p.K633fs	NPHP3_uc003epd.2_5'UTR	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	633					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CATTTCATGTGTTTTTCAACTT	0.322													T	132418284	-	T	132418283	7	5	49	1	0	1	1	0	0	0	0	0	10580	1722	60	0	2153	0	NPHP3	3	132418283	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	1209450	132418283	65604147	360	39241											
COPB2	9276	broad.mit.edu	37	chr3	139085492	139085492	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatcagccatgctaaagtccCtccgcatgacagctgtctgg	9	13	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:139085492C>A	uc003etf.3	-	15	1932	c.1802G>T	c.(1801-1803)AGG>ATG	p.R601M	COPB2_uc011bmv.1_Missense_Mutation_p.R572M|COPB2_uc010hui.2_Missense_Mutation_p.R572M	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	601					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2						GCTAAAGTCCCTCCGCATGAC	0.438													A	139085492	C	A	139085492	3	1	49	1	0	0	0	0	1	0	0	0	3729	681	24	5	950	5	COPB2	3	139085492	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	6667209	139085492	58936938	361	39242											
SPSB4	92369	broad.mit.edu	37	chr3	140785534	140785534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcgtggatggccagtaCctgggcgtggccttccgagg	15	11	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:140785534C>T	uc003ett.2	+	2	842	c.588C>T	c.(586-588)TAC>TAT	p.Y196Y	SPSB4_uc010hum.2_Silent_p.Y196Y	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box	196	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding				0						ATGGCCAGTACCTGGGCGTGG	0.632													T	140785534	C	T	140785534	2	4	49	1	0	0	0	0	0	0	0	1	15114	518	18	4		4	SPSB4	3	140785534	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1700042	140785534	57236896	362	39243											
TFDP2	7029	broad.mit.edu	37	chr3	141688962	141688962	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccgcttctgctttatccgttCtatccgcctctgcttctcta	5	16	4	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:141688962C>G	uc003eun.3	-	9	1064	c.685G>C	c.(685-687)GAA>CAA	p.E229Q	TFDP2_uc003euk.3_Missense_Mutation_p.E142Q|TFDP2_uc010hur.2_Missense_Mutation_p.E169Q|TFDP2_uc003eul.3_Missense_Mutation_p.E169Q|TFDP2_uc011bnf.1_Missense_Mutation_p.E132Q|TFDP2_uc011bng.1_Missense_Mutation_p.E93Q|TFDP2_uc003eum.3_Missense_Mutation_p.E169Q	NM_006286	NP_006277	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization	229	Dimerization (Potential).|DCB1.				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)	1						TTTATCCGTTCTATCCGCCTC	0.413													G	141688962	C	G	141688962	3	3	49	1	0	0	0	0	1	0	0	0	15795	922	32	5	675	5	TFDP2	3	141688962	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	903428	141688962	56333468	363	39244											
P2RY14	9934	broad.mit.edu	37	chr3	150931878	150931878	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtcaccaaggatcttgAaaggaaaagtcaggctcatc	10	9	4	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:150931878A>G	uc003eyr.1	-	3	705	c.227T>C	c.(226-228)TTC>TCC	p.F76S	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.F76S	NM_001081455	NP_001074924	Q15391	P2Y14_HUMAN	P2Y14 receptor	76	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			large_intestine(2)|ovary(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGGATCTTGAAAGGAAAAGT	0.463													G	150931878	A	G	150931878	3	3	49	1	0	0	0	0	1	0	0	0	11351	246	9	3	793	3	P2RY14	3	150931878	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	9242916	150931878	47090552	364	39245											
MED12L	116931	broad.mit.edu	37	chr3	151134107	151134107	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accctctttccagatgcagcAgccccagcagccccagcccc	7	21	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:151134107A>G	uc003eyp.2	+	41	6238	c.6200A>G	c.(6199-6201)CAG>CGG	p.Q2067R	MED12L_uc011bnz.1_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	2067	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGATGcagcagccccagcag	0.333													G	151134107	A	G	151134107	3	3	49	1	0	0	0	0	1	0	0	0	9429	188	7	3	6362	3	MED12L	3	151134107	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	202229	151134107	46888323	365	39246											
IGSF10	285313	broad.mit.edu	37	chr3	151155816	151155816	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaaatcatgtcattggaaGgcagcaaccaaaatattttt	8	6	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:151155816G>T	uc011bod.1	-	6	6533	c.6533C>A	c.(6532-6534)CCT>CAT	p.P2178H	IGSF10_uc011bob.1_Missense_Mutation_p.P205H|IGSF10_uc011boc.1_Missense_Mutation_p.P157H	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	2178	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTCATTGGAAGGCAGCAACCA	0.433													T	151155816	G	T	151155816	3	4	49	1	0	0	0	0	1	0	0	0	7597	1000	35	5	1342	5	IGSF10	3	151155816	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	21709	151155816	46866614	366	39247											
DHX36	170506	broad.mit.edu	37	chr3	154017707	154017707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcagaaagaccagtatcGcaccatcctatatgaagggg	11	10	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:154017707G>A	uc003ezy.3	-	12	1550	c.1469C>T	c.(1468-1470)GCG>GTG	p.A490V	DHX36_uc010hvq.2_Missense_Mutation_p.A490V|DHX36_uc003ezz.3_Missense_Mutation_p.A490V	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	490	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GACCAGTATCGCACCATCCTA	0.358													A	154017707	G	A	154017707	3	1	49	1	0	0	0	0	1	0	0	0	4509	1087	38	1	1613	1	DHX36	3	154017707	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2861891	154017707	44004723	367	39248											
DHX36	170506	broad.mit.edu	37	chr3	154032899	154032899	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccaataatttttggtctAaagttccatctggttcattt	5	8	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:154032899A>G	uc003ezy.3	-	3	620	c.539T>C	c.(538-540)TTA>TCA	p.L180S	DHX36_uc010hvq.2_Missense_Mutation_p.L180S|DHX36_uc003ezz.3_Missense_Mutation_p.L180S	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	180						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTTTGGTCTAAAGTTCCATC	0.284													G	154032899	A	G	154032899	3	3	49	1	0	0	0	0	1	0	0	0	4509	372	13	3	2579	3	DHX36	3	154032899	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	15192	154032899	43989531	368	39249											
PLCH1	23007	broad.mit.edu	37	chr3	155203168	155203168	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagagttttcttttccttcaAtgtcttttgctgtttcagat	7	7	4	2	rs141197506	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:155203168A>T	uc011bok.1	-	22	3252	c.2975T>A	c.(2974-2976)ATT>AAT	p.I992N	PLCH1_uc011boj.1_Missense_Mutation_p.I992N|PLCH1_uc011bol.1_Missense_Mutation_p.I954N	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	992					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTTCCTTCAATGTCTTTTGC	0.453													T	155203168	A	T	155203168	3	4	49	1	0	0	0	0	1	0	0	0	12037	101	4	5	2129	5	PLCH1	3	155203168	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1170269	155203168	42819262	369	39250											
C3orf33	285315	broad.mit.edu	37	chr3	155481323	155481323	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttcacccttttctacgaaAgtttatgcgacttataagtt	6	8	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:155481323A>C	uc003fal.1	-	6	1009	c.739T>G	c.(739-741)TTT>GTT	p.F247V	C3orf33_uc003fam.1_Missense_Mutation_p.F290V	NM_173657	NP_775928	Q96NB5	Q96NB5_HUMAN	hypothetical protein LOC285315	247							hydrolase activity, acting on ester bonds|nucleic acid binding				0			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTCTACGAAAGTTTATGCGA	0.318													C	155481323	A	C	155481323	3	2	49	1	0	0	0	0	1	0	0	0	2223	72	3	5	20	5	C3orf33	3	155481323	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	278155	155481323	42541107	370	39251											
VEPH1	79674	broad.mit.edu	37	chr3	157188202	157188202	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgttccaagcaggagtcccaGagccccacaagggcctttgc	11	14	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:157188202G>T	uc003fbj.1	-	3	572	c.255C>A	c.(253-255)CTC>CTA	p.L85L	VEPH1_uc003fbk.1_Silent_p.L85L|VEPH1_uc010hvu.1_Silent_p.L85L|VEPH1_uc003fbm.2_Silent_p.L85L|VEPH1_uc003fbn.2_Silent_p.L85L	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	85						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGGAGTCCCAGAGCCCCACAA	0.463													T	157188202	G	T	157188202	2	4	49	1	0	0	0	0	0	0	0	1	17151	929	33	5		5	VEPH1	3	157188202	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1706879	157188202	40834228	371	39252											
GFM1	85476	broad.mit.edu	37	chr3	158369926	158369926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattccagctgaattaagggCggcggccactgaccaccggc	13	13	0	2	rs150903461		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:158369926C>T	uc003fce.2	+	6	838	c.731C>T	c.(730-732)GCG>GTG	p.A244V	GFM1_uc003fcd.2_Missense_Mutation_p.A244V|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Missense_Mutation_p.A175V	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1 precursor	244					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GAATTAAGGGCGGCGGCCACT	0.408													T	158369926	C	T	158369926	3	4	49	1	0	0	0	0	1	0	0	0	6341	768	27	1	753	1	GFM1	3	158369926	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1181724	158369926	39652504	372	39253											
ZBBX	79740	broad.mit.edu	37	chr3	167068281	167068283	+	In_Frame_Del	DEL	TCT	TCT	-													caaagcatcctgaacaataaTcttctccacattcaaggcat							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:167068280_167068282ATCT>A	uc011bpc.2	-	8	791_793	c.454_456AGAT>T	c.(454-456)gat>T	p.D152del	ZBBX_uc003feq.3_In_Frame_Del_p.D123del|ZBBX_uc003fep.3_In_Frame_Del_p.D152del	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	152						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTGAACAATAATCTTCTCCACAT	0.31													-	167068283	TCT	-	167068281	7	5	49	1	0	1	0	1	0	0	0	0	17513	1435	50	0	1999	0	ZBBX	3	167068281	In_Frame_Del	DEL	TCT	TCGA-BR-7707-01A-11D-2053-08	8698355	167068281	30954149	373	39254											
SLC2A2	6514	broad.mit.edu	37	chr3	170725002	170725002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaagtgctcccctgagagCggttggagcaatttcaccga	12	12	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:170725002C>T	uc003fhe.1	-	5	856	c.547G>A	c.(547-549)GCT>ACT	p.A183T	SLC2A2_uc003fhf.1_Missense_Mutation_p.A10T|SLC2A2_uc011bpu.1_Missense_Mutation_p.A56T	NM_000340	NP_000331	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose	183	Cytoplasmic (Potential).			A -> S (in Ref. 2; BAF83535).	carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			CCCCTGAGAGCGGTTGGAGCA	0.463													T	170725002	C	T	170725002	3	4	49	1	0	0	0	0	1	0	0	0	14544	768	27	1	1055	1	SLC2A2	3	170725002	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3656721	170725002	27297428	374	39255											
FNDC3B	64778	broad.mit.edu	37	chr3	171965347	171965347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagatagtactggagtcCgccgggtggtggtcacaccc	14	10	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:171965347C>T	uc003fhy.2	+	5	461	c.289C>T	c.(289-291)CGC>TGC	p.R97C	FNDC3B_uc003fhz.3_Missense_Mutation_p.R97C|FNDC3B_uc003fia.2_Missense_Mutation_p.R28C	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	97						endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TACTGGAGTCCGCCGGGTGGT	0.458													T	171965347	C	T	171965347	3	4	49	1	0	0	0	0	1	0	0	0	5970	652	23	1	303	1	FNDC3B	3	171965347	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1240345	171965347	26057083	375	39256											
CCDC39	339829	broad.mit.edu	37	chr3	180334112	180334112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagatctagagctctgacGactgccttttgtgctagctg	12	9	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:180334112G>A	uc010hxe.2	-	19	2741	c.2626C>T	c.(2626-2628)CGT>TGT	p.R876C	CCDC39_uc003fkn.2_RNA|TTC14_uc003fkm.2_Intron	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	876	Ser-rich.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GAGCTCTGACGACTGCCTTTT	0.383													A	180334112	G	A	180334112	3	1	49	1	0	0	0	0	1	0	0	0	2811	1058	37	1	207	1	CCDC39	3	180334112	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	8368765	180334112	17688318	376	39257											
EIF2B5	8893	broad.mit.edu	37	chr3	183857942	183857942	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgaggtctcttagtgaatgaGgaggtgagaaaagtcttcca	13	6	2	3	rs138820746		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:183857942G>T	uc003fmp.2	+	6	1204	c.840G>T	c.(838-840)GAG>GAT	p.E280D	EIF2B5_uc003fmq.2_Translation_Start_Site	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B,	280					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			ovary(5)	5	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TAGTGAATGAGGAGGTGAGAA	0.428													T	183857942	G	T	183857942	3	4	49	1	0	0	0	0	1	0	0	0	5004	991	35	5	862	5	EIF2B5	3	183857942	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	3523830	183857942	14164488	377	39258											
MASP1	5648	broad.mit.edu	37	chr3	186978565	186978565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtgtggaggatgtagcCgaagcggcaggagcagtagt	18	6	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:186978565C>T	uc003frh.1	-	4	843	c.511G>A	c.(511-513)GGC>AGC	p.G171S	MASP1_uc003fri.2_Missense_Mutation_p.G171S|MASP1_uc003frj.2_Missense_Mutation_p.G140S|MASP1_uc003frk.1_Missense_Mutation_p.G171S|MASP1_uc011bse.1_Missense_Mutation_p.G145S	NM_001879	NP_001870	P48740	MASP1_HUMAN	mannan-binding lectin serine protease 1 isoform	171	Interaction with FCN2.|Interaction with MBL2.|EGF-like; calcium-binding.|Homodimerization (By similarity).				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|breast(1)|liver(1)	4	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AGGATGTAGCCGAAGCGGCAG	0.522													T	186978565	C	T	186978565	3	4	49	1	0	0	0	0	1	0	0	0	9322	652	23	1	2585	1	MASP1	3	186978565	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3120623	186978565	11043865	378	39259											
IL1RAP	3556	broad.mit.edu	37	chr3	190322009	190322009	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgcccactctttgaacacTtcttgaaattcaactacagc	5	12	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:190322009T>G	uc003fsm.1	+	4	363	c.157T>G	c.(157-159)TTC>GTC	p.F53V	IL1RAP_uc003fsk.2_Missense_Mutation_p.F53V|IL1RAP_uc003fsl.2_Missense_Mutation_p.F53V|IL1RAP_uc010hzf.2_Intron|IL1RAP_uc010hzg.1_Missense_Mutation_p.F53V|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.F53V|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Missense_Mutation_p.F53V	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	53	Ig-like C2-type 1.|Extracellular (Potential).				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		CTTTGAACACTTCTTGAAATT	0.498													G	190322009	T	G	190322009	3	3	49	1	0	0	0	0	1	0	0	0	7660	1609	56	5	163	5	IL1RAP	3	190322009	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	3343444	190322009	7700421	379	39260											
ATP13A4	84239	broad.mit.edu	37	chr3	193158373	193158373	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaaattcttccaccagActggacttctgcccaggaga	8	12	3	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:193158373A>T	uc003ftd.2	-	21	2601	c.2493T>A	c.(2491-2493)AGT>AGA	p.S831R	ATP13A4_uc003fte.1_Missense_Mutation_p.S831R|ATP13A4_uc011bsr.1_Missense_Mutation_p.S302R|ATP13A4_uc010hzi.2_RNA	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	831	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CTTCCACCAGACTGGACTTCT	0.458													T	193158373	A	T	193158373	3	4	49	1	0	0	0	0	1	0	0	0	1126	272	10	5	1137	5	ATP13A4	3	193158373	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	2836364	193158373	4864057	380	39261											
MUC4	4585	broad.mit.edu	37	chr3	195486030	195486030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgcagctgtctctgagcGtgaagttggcatcctcagca	13	11	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:195486030G>A	uc011bto.1	-	18	15027	c.14567C>T	c.(14566-14568)ACG>ATG	p.T4856M	MUC4_uc003fuz.2_Missense_Mutation_p.T582M|MUC4_uc003fva.2_Missense_Mutation_p.T464M|MUC4_uc003fvb.2_Missense_Mutation_p.T500M|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.T500M|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.T464M|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.T548M|MUC4_uc011bti.1_Missense_Mutation_p.T548M|MUC4_uc011btj.1_Missense_Mutation_p.T725M|MUC4_uc011btk.1_Missense_Mutation_p.T464M|MUC4_uc011btl.1_Missense_Mutation_p.T493M|MUC4_uc011btm.1_Missense_Mutation_p.T673M|MUC4_uc011btn.1_Missense_Mutation_p.T464M|MUC4_uc003fvo.2_Missense_Mutation_p.T748M|MUC4_uc003fvp.2_Missense_Mutation_p.T697M	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1741					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTCTCTGAGCGTGAAGTTGGC	0.552													A	195486030	G	A	195486030	3	1	49	1	0	0	0	0	1	0	0	0	9978	1145	40	1	1323	1	MUC4	3	195486030	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2327657	195486030	2536400	381	39262											
ZDHHC19	131540	broad.mit.edu	37	chr3	195925221	195925221	+	Frame_Shift_Del	DEL	G	G	-													gggacccagaggttggggctGgggggttgagagcagagggg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:195925221delG	uc003fwc.2	-	7	989	c.875delC	c.(874-876)CCAfs	p.P292fs	ZDHHC19_uc010hzz.2_RNA|ZDHHC19_uc010iaa.2_RNA|ZDHHC19_uc010iab.2_Intron	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC domain containing 19	292						integral to membrane	acyltransferase activity|zinc ion binding			ovary(3)	3	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GGTTGGGGCTGGGGGGTTGAG	0.627													-	195925221	G	-	195925221	7	5	49	1	0	1	0	1	0	0	0	0	17606	1348	47	0	58	0	ZDHHC19	3	195925221	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	439191	195925221	2097209	382	39263											
PAK2	5062	broad.mit.edu	37	chr3	196509660	196509660	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgttccagaagagaaaaAgcccaggcataaaatcatct	7	10	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:196509660A>G	uc003fwy.3	+	2	465	c.143A>G	c.(142-144)AAG>AGG	p.K48R		NM_002577	NP_002568	Q13177	PAK2_HUMAN	p21-activated kinase 2	48					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			ovary(1)|lung(1)	2	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		GAAGAGAAAAAGCCCAGGCAT	0.443													G	196509660	A	G	196509660	3	3	49	1	0	0	0	0	1	0	0	0	11401	72	3	3	145	3	PAK2	3	196509660	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	584439	196509660	1512770	383	39264											
MFI2	4241	broad.mit.edu	37	chr3	196735572	196735572	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcctgacgaaggcaacgTcacccgcattctccaccagg	10	15	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:196735572T>C	uc003fxk.3	-	13	1819	c.1706A>G	c.(1705-1707)GAC>GGC	p.D569G		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	569	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GAAGGCAACGTCACCCGCATT	0.637													C	196735572	T	C	196735572	3	2	49	1	0	0	0	0	1	0	0	0	9522	1667	58	3	526	3	MFI2	3	196735572	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	225912	196735572	1286858	384	39265											
ZNF721	170960	broad.mit.edu	37	chr4	436908	436908	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtataaaggctttcccacAttctttacatttgtagggtt	7	7	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:436908A>G	uc003gag.2	-	3	2039	c.1348T>C	c.(1348-1350)TGT>CGT	p.C450R	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.C482R|ZNF721_uc010ibe.2_Missense_Mutation_p.C438R	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	450						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						GCTTTCCCACATTCTTTACAT	0.368													G	436908	A	G	436908	3	3	49	1	0	0	0	0	1	0	0	0	18119	217	8	3	1427	3	ZNF721	4	436908	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08		436908	190717368	385	39266											
PIGG	54872	broad.mit.edu	37	chr4	501310	501310	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatttcagggcccaacagCcccctgattgggcagaagct	10	14	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:501310C>T	uc003gak.3	+	4	823	c.687C>T	c.(685-687)AGC>AGT	p.S229S	PIGG_uc003gaj.3_Silent_p.S229S|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Intron|PIGG_uc003gal.3_Silent_p.S140S|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Silent_p.S107S|PIGG_uc003gam.2_Silent_p.S140S|PIGG_uc003gan.2_Silent_p.S140S	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	229	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						GGCCCAACAGCCCCCTGATTG	0.537													T	501310	C	T	501310	2	4	49	1	0	0	0	0	0	0	0	1	11888	738	26	2		2	PIGG	4	501310	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	64402	501310	190652966	386	39267											
PCGF3	10336	broad.mit.edu	37	chr4	727562	727562	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgacgccaccacggtgacCgagtgtctgcacacctgtac	10	15	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:727562C>T	uc011bva.1	+	5	568	c.93C>T	c.(91-93)ACC>ACT	p.T31T	PCGF3_uc003gbc.1_RNA|PCGF3_uc003gbd.1_RNA|PCGF3_uc003gbe.2_Silent_p.T31T|PCGF3_uc010ibh.2_Silent_p.T31T|PCGF3_uc003gbg.1_5'Flank|PCGF3_uc003gbh.2_5'Flank	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN	ring finger protein 3	31	RING-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding				0						CCACGGTGACCGAGTGTCTGC	0.612													T	727562	C	T	727562	2	4	49	1	0	0	0	0	0	0	0	1	11576	639	23	1		1	PCGF3	4	727562	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	226252	727562	190426714	387	39268											
KIAA1530	57654	broad.mit.edu	37	chr4	1348977	1348977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggctgaattggagctcGtactgagaaaatacaaggag	13	5	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:1348977G>A	uc003gde.3	+	7	1567	c.1120G>A	c.(1120-1122)GTA>ATA	p.V374I		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	374											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			ATTGGAGCTCGTACTGAGAAA	0.617													A	1348977	G	A	1348977	3	1	49	1	0	0	0	0	1	0	0	0	8241	1145	40	1	1142	1	KIAA1530	4	1348977	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	621415	1348977	189805299	388	39269											
CRIPAK	285464	broad.mit.edu	37	chr4	1389008	1389008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcacacgtgccgatgcGgagtgcccgcctgctcacac	11	17	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:1389008G>A	uc003gdf.2	+	1	3669	c.709G>A	c.(709-711)GGA>AGA	p.G237R		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	237	6.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGCCGATGCGGAGTGCCCGC	0.677													A	1389008	G	A	1389008	3	1	49	1	0	0	0	0	1	0	0	0	3877	1117	39	1	711	1	CRIPAK	4	1389008	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	40031	1389008	189765268	389	39270											
WHSC1	7468	broad.mit.edu	37	chr4	1976611	1976611	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accgtataatagacgctggcCccaaaggaaactactctcga	8	12	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:1976611C>A	uc003gdz.3	+	19	3570	c.3394C>A	c.(3394-3396)CCC>ACC	p.P1132T	WHSC1_uc003geb.3_Missense_Mutation_p.P1132T|WHSC1_uc003gec.3_Missense_Mutation_p.P1132T|WHSC1_uc003ged.3_Missense_Mutation_p.P1132T|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.P351T|WHSC1_uc011bvh.1_Missense_Mutation_p.P193T|WHSC1_uc010icf.2_Missense_Mutation_p.P480T	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	1132	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGACGCTGGCCCCAAAGGAAA	0.453			T	IGH@	MM								A	1976611	C	A	1976611	3	1	49	1	0	0	0	0	1	0	0	0	17359	623	22	5	3540	5	WHSC1	4	1976611	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	587603	1976611	189177665	390	39271											
POLN	353497	broad.mit.edu	37	chr4	2082734	2082734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtgaagacatggatcaTggccagcttgcagaggtcag	14	8	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:2082734T>C	uc003ger.2	-	21	2338	c.2338A>G	c.(2338-2340)ATG>GTG	p.M780V	POLN_uc010icg.1_Missense_Mutation_p.M228V|POLN_uc010ich.1_3'UTR	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	780					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			ACATGGATCATGGCCAGCTTG	0.587								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					C	2082734	T	C	2082734	3	2	49	1	0	0	0	0	1	0	0	0	12207	1464	51	3	380	3	POLN	4	2082734	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	106123	2082734	189071542	391	39272											
FAM193A	8603	broad.mit.edu	37	chr4	2701952	2701952	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggccagcagcgagccagcGaggaggcccacagagccccc	14	16	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:2701952G>A	uc010icl.2	+	17	3531	c.3180G>A	c.(3178-3180)GCG>GCA	p.A1060A	FAM193A_uc010ick.2_Silent_p.A1260A|FAM193A_uc003gfd.2_Silent_p.A1060A|FAM193A_uc011bvm.1_Silent_p.A1082A|FAM193A_uc011bvn.1_Silent_p.A1060A|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Silent_p.A914A	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	1060										ovary(3)	3						GCGAGCCAGCGAGGAGGCCCA	0.582													A	2701952	G	A	2701952	2	1	49	1	0	0	0	0	0	0	0	1	5524	1045	37	1		1	FAM193A	4	2701952	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	619218	2701952	188452324	392	39273											
NOP14	8602	broad.mit.edu	37	chr4	2948140	2948140	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagactgaactctgcttaccAcatccaaccctggcaatgcc	6	15	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:2948140A>G	uc003ggj.1	-	11	1706	c.1634T>C	c.(1633-1635)GTG>GCG	p.V545A	C4orf10_uc003gge.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.V291A|NOP14_uc003ggk.3_Missense_Mutation_p.V545A|NOP14_uc003ggl.2_Missense_Mutation_p.V545A	NM_003703	NP_003694	P78316	NOP14_HUMAN	probable nucleolar complex protein 14	545					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)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1						TCTGCTTACCACATCCAACCC	0.522													G	2948140	A	G	2948140	3	3	49	1	0	0	0	0	1	0	0	0	10536	173	6	3	971	3	NOP14	4	2948140	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	246188	2948140	188206136	393	39274											
EVC2	132884	broad.mit.edu	37	chr4	5687115	5687115	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccgtgacgagctctgaaaGgtgagttgggcaggaagctt	15	8	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:5687115G>T	uc003gij.2	-	6	852	c.798C>A	c.(796-798)ACC>ACA	p.T266T	EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Silent_p.T186T	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	266						integral to membrane				large_intestine(3)|ovary(2)	5						AGCTCTGAAAGGTGAGTTGGG	0.532													T	5687115	G	T	5687115	2	4	49	1	0	0	0	0	0	0	0	1	5286	987	35	5		5	EVC2	4	5687115	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2738975	5687115	185467161	394	39275											
MAN2B2	23324	broad.mit.edu	37	chr4	6619137	6619137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcccaggctgacctccGccgtgtcctgctgcggctct	13	16	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:6619137G>A	uc003gjf.1	+	17	2768	c.2732G>A	c.(2731-2733)CGC>CAC	p.R911H	MAN2B2_uc003gje.1_Missense_Mutation_p.R911H|MAN2B2_uc011bwf.1_Missense_Mutation_p.R860H	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	911					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						GCTGACCTCCGCCGTGTCCTG	0.597													A	6619137	G	A	6619137	3	1	49	1	0	0	0	0	1	0	0	0	9217	1087	38	1	2798	1	MAN2B2	4	6619137	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	932022	6619137	184535139	395	39276											
CCDC96	257236	broad.mit.edu	37	chr4	7043253	7043253	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgtctcttcctagggcGgcctgggcctcgatttctgc	13	12	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:7043253G>A	uc003gjv.2	-	1	1476	c.1413C>T	c.(1411-1413)GCC>GCT	p.A471A	TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	471											0						TTCCTAGGGCGGCCTGGGCCT	0.547													A	7043253	G	A	7043253	2	1	49	1	0	0	0	0	0	0	0	1	2874	1103	39	1		1	CCDC96	4	7043253	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	424116	7043253	184111023	396	39277											
SH3TC1	54436	broad.mit.edu	37	chr4	8229226	8229226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctgttcctagtggtggCtgtgtacgccaacctggcca	13	12	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:8229226C>T	uc003gkv.3	+	12	1906	c.1805C>T	c.(1804-1806)GCT>GTT	p.A602V	SH3TC1_uc003gkw.3_Missense_Mutation_p.A526V|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	602	TPR 2.						binding			large_intestine(2)|pancreas(1)	3						CTAGTGGTGGCTGTGTACGCC	0.637													T	8229226	C	T	8229226	3	4	49	1	0	0	0	0	1	0	0	0	14261	797	28	2	1847	2	SH3TC1	4	8229226	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1185973	8229226	182925050	397	39278											
LDB2	9079	broad.mit.edu	37	chr4	16590355	16590355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatggctaggatgcttctcGggactaactctcggtattgt	12	9	2	0	rs138524887		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:16590355G>A	uc003goz.2	-	4	825	c.509C>T	c.(508-510)CCG>CTG	p.P170L	LDB2_uc003gpa.2_Missense_Mutation_p.P170L|LDB2_uc003gpb.2_Missense_Mutation_p.P170L|LDB2_uc011bxh.1_Missense_Mutation_p.P170L|LDB2_uc010iee.2_Missense_Mutation_p.P170L|LDB2_uc003goy.2_Missense_Mutation_p.P46L|LDB2_uc011bxi.1_Missense_Mutation_p.P46L	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	170							LIM domain binding|transcription cofactor activity				0						GATGCTTCTCGGGACTAACTC	0.393													A	16590355	G	A	16590355	3	1	49	1	0	0	0	0	1	0	0	0	8696	1116	39	1	741	1	LDB2	4	16590355	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	8361129	16590355	174563921	398	39279											
LCORL	254251	broad.mit.edu	37	chr4	17964593	17964593	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatagcactaaaacttacActgactgcttctctctgtag	5	11	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:17964593A>G	uc003gpq.2	-	3	311	c.300T>C	c.(298-300)AGT>AGC	p.S100S	LCORL_uc011bxk.1_Intron	NM_153686	NP_710153	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						TAAAACTTACACTGACTGCTT	0.313													G	17964593	A	G	17964593	2	3	49	1	0	0	0	0	0	0	0	1	8690	173	6	3		3	LCORL	4	17964593	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1374238	17964593	173189683	399	39280											
GPR125	166647	broad.mit.edu	37	chr4	22422539	22422539	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agactcgaaaatgtatttgaAacattgcacttaaagctcag	7	7	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:22422539A>G	uc003gqm.1	-	12	2044	c.1779T>C	c.(1777-1779)GTT>GTC	p.V593V	GPR125_uc010ieo.1_Silent_p.V467V|GPR125_uc003gqn.1_Silent_p.V367V|GPR125_uc003gqo.2_Silent_p.V593V	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	593	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				ATGTATTTGAAACATTGCACT	0.418													G	22422539	A	G	22422539	2	3	49	1	0	0	0	0	0	0	0	1	6639	1	1	3		3	GPR125	4	22422539	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	4457946	22422539	168731737	400	39281											
PPARGC1A	10891	broad.mit.edu	37	chr4	23831131	23831131	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcctgtgattgtgatttgcAtggttctgggtactgagacc	12	7	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:23831131A>G	uc003gqs.2	-	4	627	c.507T>C	c.(505-507)CAT>CAC	p.H169H	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	169					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				TGTGATTTGCATGGTTCTGGG	0.403													G	23831131	A	G	23831131	2	3	49	1	0	0	0	0	0	0	0	1	12300	214	8	3		3	PPARGC1A	4	23831131	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1408592	23831131	167323145	401	39282											
KLF3	51274	broad.mit.edu	37	chr4	38696378	38696378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttcacaggaatcacccttCggtcatcgtgcagcctggga	10	13	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:38696378C>T	uc003gth.3	+	5	1039	c.707C>T	c.(706-708)TCG>TTG	p.S236L		NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	236	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						AATCACCCTTCGGTCATCGTG	0.463													T	38696378	C	T	38696378	3	4	49	1	0	0	0	0	1	0	0	0	8347	893	31	1	721	1	KLF3	4	38696378	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	14865247	38696378	152457898	402	39283											
TMEM156	80008	broad.mit.edu	37	chr4	38990475	38990475	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggattatacttactctgCcacttttgcactcttctctg	6	12	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:38990475C>T	uc003gto.2	-	4	843	c.735G>A	c.(733-735)TGG>TGA	p.W245*	TMEM156_uc010ifj.2_Nonsense_Mutation_p.W245*	NM_024943	NP_079219	Q8N614	TM156_HUMAN	transmembrane protein 156	245	Cytoplasmic (Potential).					integral to membrane				skin(1)	1						ACTTACTCTGCCACTTTTGCA	0.313													T	38990475	C	T	38990475	4	4	49	1	0	0	0	0	0	1	0	0	16070	740	26	2	167	2	TMEM156	4	38990475	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	294097	38990475	152163801	403	39284											
RBM47	54502	broad.mit.edu	37	chr4	40428030	40428030	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcggccgcggctgccgcgTtcttctgtagtgtggcgatc	16	12	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:40428030T>C	uc003gvc.2	-	7	2383	c.1673A>G	c.(1672-1674)AAC>AGC	p.N558S	RBM47_uc003gvd.2_Missense_Mutation_p.N489S|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.N520S	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	558	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(3)	3						GGCTGCCGCGTTCTTCTGTAG	0.597													C	40428030	T	C	40428030	3	2	49	1	0	0	0	0	1	0	0	0	13141	1725	60	3	112	3	RBM47	4	40428030	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1437555	40428030	150726246	404	39285											
LIMCH1	22998	broad.mit.edu	37	chr4	41621389	41621390	+	Frame_Shift_Del	DEL	AG	AG	-													cctctgagaaagaagaaagcAgagagagaggaataccgcaa							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:41621389_41621390delAG	uc003gvu.3	+	8	921_922	c.867_868delAG	c.(865-870)GCAGAGfs	p.A289fs	LIMCH1_uc003gvt.1_Frame_Shift_Del_p.A130fs|LIMCH1_uc003gvv.3_Frame_Shift_Del_p.A289fs|LIMCH1_uc003gvw.3_Frame_Shift_Del_p.A289fs|LIMCH1_uc003gvx.3_Frame_Shift_Del_p.A289fs|LIMCH1_uc003gwe.3_Frame_Shift_Del_p.A289fs|LIMCH1_uc003gvy.3_Frame_Shift_Del_p.A130fs|LIMCH1_uc003gwa.3_Frame_Shift_Del_p.A130fs|LIMCH1_uc003gvz.3_Frame_Shift_Del_p.A130fs|LIMCH1_uc011byu.1_Frame_Shift_Del_p.A135fs|LIMCH1_uc003gwc.3_Frame_Shift_Del_p.A135fs|LIMCH1_uc003gwd.3_Frame_Shift_Del_p.A135fs|LIMCH1_uc011byv.1_Frame_Shift_Del_p.A40fs|LIMCH1_uc003gwb.1_Frame_Shift_Del_p.A137fs	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	289_290					actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						AGAAGAAAGCAGAGAGAGAGGA	0.594													-	41621390	AG	-	41621389	7	5	49	1	0	1	0	1	0	0	0	0	8797	175	7	0	925	0	LIMCH1	4	41621389	Frame_Shift_Del	DEL	AG	TCGA-BR-7707-01A-11D-2053-08	1193359	41621389	149532887	405	39286											
LIMCH1	22998	broad.mit.edu	37	chr4	41694373	41694373	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcgaaatggtctcctgaaCtgtaatgattgctacatgcg	9	8	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:41694373C>T	uc003gvu.3	+	26	3252	c.3198C>T	c.(3196-3198)AAC>AAT	p.N1066N	LIMCH1_uc003gvv.3_Silent_p.N1040N|LIMCH1_uc003gvw.3_Silent_p.N1039N|LIMCH1_uc003gvx.3_Silent_p.N1052N|LIMCH1_uc003gwe.3_Silent_p.N963N|LIMCH1_uc003gvy.3_Silent_p.N868N|LIMCH1_uc003gwa.3_Silent_p.N880N|LIMCH1_uc003gvz.3_Silent_p.N1450N|LIMCH1_uc011byu.1_Silent_p.N899N|LIMCH1_uc003gwc.3_Silent_p.N885N|LIMCH1_uc003gwd.3_Silent_p.N873N|LIMCH1_uc011byv.1_Silent_p.N816N|LIMCH1_uc011byw.1_Silent_p.N339N|LIMCH1_uc010ifv.2_5'Flank	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	1066	LIM zinc-binding.				actomyosin structure organization		actin binding|zinc ion binding	p.N1066H(1)		ovary(2)|pancreas(1)|skin(1)	4						GTCTCCTGAACTGTAATGATT	0.438													T	41694373	C	T	41694373	2	4	49	1	0	0	0	0	0	0	0	1	8797	564	20	4		4	LIMCH1	4	41694373	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	72984	41694373	149459903	406	39287											
SRP72	6731	broad.mit.edu	37	chr4	57340534	57340534	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccagctgaaccaggccaTgaaaatcctacaaaaagctg	9	11	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:57340534T>C	uc003hbv.2	+	5	627	c.587T>C	c.(586-588)ATG>ACG	p.M196T	SRP72_uc010ihe.2_Missense_Mutation_p.M196T|SRP72_uc003hbw.1_Missense_Mutation_p.M1T	NM_006947	NP_008878	O76094	SRP72_HUMAN	signal recognition particle 72kDa	196					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)					AACCAGGCCATGAAAATCCTA	0.433													C	57340534	T	C	57340534	3	2	49	1	0	0	0	0	1	0	0	0	15156	1464	51	3	605	3	SRP72	4	57340534	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	15646161	57340534	133813742	407	39288											
POLR2B	5431	broad.mit.edu	37	chr4	57861565	57861567	+	In_Frame_Del	DEL	GAG	GAG	-													atgggttagcatgctggcaaGaggaggacaggtatggactg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:57861564_57861566AGAG>A	uc003hcl.1	+	5	767_769	c.724_726AGAG>A	c.(724-726)aga>A	p.R242del	POLR2B_uc011cae.1_In_Frame_Del_p.R235del|POLR2B_uc011caf.1_In_Frame_Del_p.R167del	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	242					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CATGCTGGCAAGAGGAGGACAGG	0.404													-	57861567	GAG	-	57861565	7	5	49	1	0	1	0	1	0	0	0	0	12215	942	33	0	747	0	POLR2B	4	57861565	In_Frame_Del	DEL	GAG	TCGA-BR-7707-01A-11D-2053-08	521031	57861565	133292711	408	39289											
RUFY3	22902	broad.mit.edu	37	chr4	71588444	71588444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatgacatctcacttacaCctgacccagagcctacccat	6	15	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:71588444C>T	uc003hfq.2	+	1	749	c.154C>T	c.(154-156)CCT>TCT	p.P52S	RUFY3_uc003hfp.3_Intron|RUFY3_uc011cax.1_Missense_Mutation_p.P52S|RUFY3_uc003hfr.2_Missense_Mutation_p.P52S	NM_014961	NP_055776	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3 isoform 2	52					negative regulation of axonogenesis	filopodium|growth cone					0		all_hematologic(202;0.248)	Lung(101;0.235)			CTCACTTACACCTGACCCAGA	0.537													T	71588444	C	T	71588444	3	4	49	1	0	0	0	0	1	0	0	0	13740	507	18	4	518	4	RUFY3	4	71588444	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	13726879	71588444	119565832	409	39290											
ANKRD17	26057	broad.mit.edu	37	chr4	73943097	73943097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttaggaaagtccatgtagCctgcaggaacatgctgatgg	12	8	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:73943097C>T	uc003hgp.2	-	32	7679	c.7562G>A	c.(7561-7563)GGC>GAC	p.G2521D	ANKRD17_uc003hgo.2_Missense_Mutation_p.G2408D|ANKRD17_uc003hgq.2_Missense_Mutation_p.G2270D|ANKRD17_uc003hgr.2_Missense_Mutation_p.G2520D	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	2521					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCCATGTAGCCTGCAGGAAC	0.393													T	73943097	C	T	73943097	3	4	49	1	0	0	0	0	1	0	0	0	646	739	26	2	261	2	ANKRD17	4	73943097	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2354653	73943097	117211179	410	39291											
MTHFD2L	441024	broad.mit.edu	37	chr4	75065537	75065537	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgagcgaacaatatgcAatggaattgccccagaaaaa	9	7	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:75065537A>G	uc003hhn.1	+	7	822	c.304A>G	c.(304-306)AAT>GAT	p.N102D	MTHFD2L_uc011cbj.1_Missense_Mutation_p.N102D|MTHFD2L_uc011cbk.1_Missense_Mutation_p.N160D	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase 2-like	102					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			ovary(1)|central_nervous_system(1)	2			all cancers(17;0.0101)|Lung(101;0.196)			AACAATATGCAATGGAATTGC	0.323													G	75065537	A	G	75065537	3	3	49	1	0	0	0	0	1	0	0	0	9930	130	5	3	492	3	MTHFD2L	4	75065537	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1122440	75065537	116088739	411	39292											
KLHL8	57563	broad.mit.edu	37	chr4	88116474	88116474	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtacaaaaaaggcaatctcAccttgagtgtgacatcacag	8	9	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:88116474A>G	uc011cdb.1	-	2	601	c.216_splice	c.e2+1	p.K72_splice	KLHL8_uc003hql.1_Splice_Site_p.K72_splice|KLHL8_uc003hqm.1_Splice_Site_p.K72_splice|KLHL8_uc003hqn.1_Splice_Site_p.K72_splice|KLHL8_uc010ikj.1_Splice_Site	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	kelch-like 8												0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AGGCAATCTCACCTTGAGTGT	0.353													G	88116474	A	G	88116474	5	3	49	1	0	0	0	0	0	0	1	0	8395	173	6	3	1680	3	KLHL8	4	88116474	Splice_Site	SNP	A	TCGA-BR-7707-01A-11D-2053-08	13050937	88116474	103037802	412	39293											
SPARCL1	8404	broad.mit.edu	37	chr4	88403698	88403698	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatcacttcaaagtccgTacaagtaggaatagctgtta	8	8	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:88403698T>C	uc010ikm.2	-	9	2118	c.1546A>G	c.(1546-1548)ACG>GCG	p.T516A	SPARCL1_uc011cdc.1_Missense_Mutation_p.T391A|SPARCL1_uc003hqs.3_Missense_Mutation_p.T516A|SPARCL1_uc011cdd.1_Missense_Mutation_p.T391A	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN	SPARC-like 1 precursor	516					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TCAAAGTCCGTACAAGTAGGA	0.413													C	88403698	T	C	88403698	3	2	49	1	0	0	0	0	1	0	0	0	14995	1638	57	3	464	3	SPARCL1	4	88403698	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	287224	88403698	102750578	413	39294											
SPARCL1	8404	broad.mit.edu	37	chr4	88411935	88411935	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atcaaggggttttgttggagGacaagtcactggatcctggc	14	7	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:88411935G>T	uc010ikm.2	-	7	1959	c.1387C>A	c.(1387-1389)CCT>ACT	p.P463T	SPARCL1_uc011cdc.1_Missense_Mutation_p.P338T|SPARCL1_uc003hqs.3_Missense_Mutation_p.P463T|SPARCL1_uc011cdd.1_Missense_Mutation_p.P338T	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN	SPARC-like 1 precursor	463	Kazal-like.				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTTGTTGGAGGACAAGTCACT	0.408													T	88411935	G	T	88411935	3	4	49	1	0	0	0	0	1	0	0	0	14995	1174	41	5	631	5	SPARCL1	4	88411935	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	8237	88411935	102742341	414	39295											
FAM190A	401145	broad.mit.edu	37	chr4	91230124	91230124	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtaagagcttcgccatcctGttctgtggatgtaacagaac	10	9	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:91230124G>T	uc003hsv.3	+	2	1029	c.689G>T	c.(688-690)TGT>TTT	p.C230F	FAM190A_uc003hsu.3_Missense_Mutation_p.C230F|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.C230F	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	KIAA1680 protein isoform 1	230										large_intestine(1)|ovary(1)	2						TCGCCATCCTGTTCTGTGGAT	0.433													T	91230124	G	T	91230124	3	4	49	1	0	0	0	0	1	0	0	0	5521	1377	48	5	691	5	FAM190A	4	91230124	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2818189	91230124	99924152	415	39296											
C4orf37	285555	broad.mit.edu	37	chr4	98762072	98762072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacatcatagctgcctggCgctggaataacctgaaaaaa	9	9	1	2	rs149484886	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:98762072C>T	uc003htt.1	-	9	1146	c.1056G>A	c.(1054-1056)GCG>GCA	p.A352A		NM_174952	NP_777612	Q8N412	CD037_HUMAN	hypothetical protein LOC285555	352											0				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		AGCTGCCTGGCGCTGGAATAA	0.348													T	98762072	C	T	98762072	2	4	49	1	0	0	0	0	0	0	0	1	2267	755	27	1		1	C4orf37	4	98762072	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	7531948	98762072	92392204	416	39297											
ADH4	127	broad.mit.edu	37	chr4	100065369	100065369	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcttactttgcccttggtgCccatttttctttgggaaact	8	10	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:100065369C>A	uc003hun.2	-	1	81	c.5G>T	c.(4-6)GGC>GTC	p.G2V	uc003hum.1_Intron|ADH4_uc011ced.1_5'UTR	NM_000670	NP_000661	P08319	ADH4_HUMAN	class II alcohol dehydrogenase, pi subunit	2					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			skin(2)	2				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	GCCCTTGGTGCCCATTTTTCT	0.418													A	100065369	C	A	100065369	3	1	49	1	0	0	0	0	1	0	0	0	310	739	26	5	1173	5	ADH4	4	100065369	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1303297	100065369	91088907	417	39298											
PPP3CA	5530	broad.mit.edu	37	chr4	101947156	101947156	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcatcctctcattaattcGgtctaagcccttggcttcct	7	14	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:101947156G>A	uc011cen.1	-	14	2107	c.1432C>T	c.(1432-1434)CGA>TGA	p.R478*	PPP3CA_uc003hvu.2_Nonsense_Mutation_p.R468*|PPP3CA_uc010ilj.2_Nonsense_Mutation_p.R426*|PPP3CA_uc003hvt.2_Nonsense_Mutation_p.R455*|PPP3CA_uc003hvs.2_Nonsense_Mutation_p.R411*|PPP3CA_uc010ilk.2_Nonsense_Mutation_p.R246*	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha	478	Inhibitory domain.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TCATTAATTCGGTCTAAGCCC	0.453													A	101947156	G	A	101947156	4	1	49	1	0	0	0	0	0	1	0	0	12397	1124	39	1	137	1	PPP3CA	4	101947156	Nonsense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1881787	101947156	89207120	418	39299											
PPA2	27068	broad.mit.edu	37	chr4	106367600	106367600	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaagatattcgccacataGcgtagctttccatcctttac	8	11	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:106367600G>A	uc003hxl.2	-	5	401	c.381C>T	c.(379-381)CGC>CGT	p.R127R	PPA2_uc003hxm.2_Silent_p.R109R|PPA2_uc003hxn.2_Silent_p.R127R|PPA2_uc003hxo.2_Intron|PPA2_uc003hxp.2_Intron|PPA2_uc003hxq.2_Silent_p.R34R|PPA2_uc003hxr.2_Silent_p.R34R|PPA2_uc011cfa.1_Silent_p.R34R	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN	inorganic pyrophosphatase 2 isoform 1 precursor	127					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			pancreas(1)	1		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		TCGCCACATAGCGTAGCTTTC	0.388													A	106367600	G	A	106367600	2	1	49	1	0	0	0	0	0	0	0	1	12287	958	34	2		2	PPA2	4	106367600	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4420444	106367600	84786676	419	39300											
TBCK	93627	broad.mit.edu	37	chr4	106967771	106967771	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggcctgttggctttaTtttattaatgccaccatcta	9	8	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:106967771T>C	uc010ilv.2	-	26	3003	c.2638A>G	c.(2638-2640)ATA>GTA	p.I880V	TBCK_uc003hyb.2_Missense_Mutation_p.I623V|TBCK_uc003hye.2_Missense_Mutation_p.I841V|TBCK_uc003hyc.2_Missense_Mutation_p.I817V|TBCK_uc003hyd.2_Missense_Mutation_p.I708V|TBCK_uc003hyf.2_Missense_Mutation_p.I880V	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	880	Rhodanese.					intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						GTTGGCTTTATTTTATTAATG	0.403													C	106967771	T	C	106967771	3	2	49	1	0	0	0	0	1	0	0	0	15633	1493	52	3	47	3	TBCK	4	106967771	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	600171	106967771	84186505	420	39301											
PITX2	5308	broad.mit.edu	37	chr4	111554122	111554122	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttacctaattgcacacaCgccgacaccagtttgcggca	7	14	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:111554122C>T	uc003iad.2	-	2	615	c.33G>A	c.(31-33)GCG>GCA	p.A11A	PITX2_uc003iae.2_Silent_p.A11A|PITX2_uc010iml.2_Translation_Start_Site|PITX2_uc003iaf.2_Silent_p.A11A	NM_153426	NP_700475	Q99697	PITX2_HUMAN	paired-like homeodomain transcription factor 2	11					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		ATTGCACACACGCCGACACCA	0.632													T	111554122	C	T	111554122	2	4	49	1	0	0	0	0	0	0	0	1	11955	523	19	1		1	PITX2	4	111554122	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	4586351	111554122	79600154	421	39302											
C4orf3	401152	broad.mit.edu	37	chr4	120221497	120221498	+	Frame_Shift_Ins	INS	-	-	A													tcgagatactcaccatggcaINSaaaaatacacaaagagaaac							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:120221496_120221497C>CA	uc021xrf.1	-	1	593_594	c.593_594G>TG	c.(592-594)ttgfs	p.L198fs	C4orf3_uc003icv.4_Frame_Shift_Ins_p.L65fs	NM_001170330	NP_001163801	Q8WVX3	CD003_HUMAN	Homo sapiens chromosome 4 open reading frame 3 (C4orf3), transcript variant 1, mRNA.	65						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						CTCACCATGGCAAAAAATACAC	0.475													A	120221498	-	A	120221497	7	5	49	1	0	1	1	0	0	0	0	0	2260	131	5	0	14	0	C4orf3	4	120221497	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	8667375	120221497	70932779	422	39303											
EXOSC9	5393	broad.mit.edu	37	chr4	122728764	122728764	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatttgtgtcagttttgccTttttccagcaagggtaagcc	9	10	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:122728764T>G	uc003iea.2	+	6	700	c.592T>G	c.(592-594)TTT>GTT	p.F198V	EXOSC9_uc003idz.2_Missense_Mutation_p.F198V|EXOSC9_uc003ieb.2_Missense_Mutation_p.F182V|EXOSC9_uc010inp.1_RNA	NM_005033	NP_005024	Q06265	EXOS9_HUMAN	exosome component 9 isoform 2	198	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding				0						CAGTTTTGCCTTTTTCCAGCA	0.358													G	122728764	T	G	122728764	3	3	49	1	0	0	0	0	1	0	0	0	5321	1609	56	5	614	5	EXOSC9	4	122728764	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	2507267	122728764	68425512	423	39304											
BBS7	55212	broad.mit.edu	37	chr4	122782657	122782657	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaagagaacaaaagacatAcatagctttaatgctttcag	6	7	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:122782657A>G	uc003ied.2	-	4	515	c.341_splice	c.e4+1	p.M114_splice	BBS7_uc003iee.1_Splice_Site_p.M114_splice|BBS7_uc010inq.1_Missense_Mutation_p.Y71H	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a						cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1						CAAAAGACATACATAGCTTTA	0.313									Bardet-Biedl_syndrome				G	122782657	A	G	122782657	5	3	49	1	0	0	0	0	0	0	1	0	1341	405	14	3	1873	3	BBS7	4	122782657	Splice_Site	SNP	A	TCGA-BR-7707-01A-11D-2053-08	53893	122782657	68371619	424	39305											
KIAA1109	84162	broad.mit.edu	37	chr4	123122208	123122208	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgaatatggaacatgccgcaGacatggcagtgtgaattaga	12	7	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:123122208G>A	uc003ieh.2	+	13	1470	c.1425G>A	c.(1423-1425)CAG>CAA	p.Q475Q	KIAA1109_uc003iei.1_Silent_p.Q229Q|KIAA1109_uc010ins.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	475					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ACATGCCGCAGACATGGCAGT	0.368													A	123122208	G	A	123122208	2	1	49	1	0	0	0	0	0	0	0	1	8208	933	33	4		4	KIAA1109	4	123122208	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	339551	123122208	68032068	425	39306											
FAT4	79633	broad.mit.edu	37	chr4	126242390	126242390	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaacagaccttgggccTgaaaggaggaaatcgaccac	11	11	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:126242390T>C	uc003ifj.3	+	1	4824	c.4824T>C	c.(4822-4824)CCT>CCC	p.P1608P		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1608	Cadherin 15.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ACCTTGGGCCTGAAAGGAGGA	0.433													C	126242390	T	C	126242390	2	2	49	1	0	0	0	0	0	0	0	1	5692	1567	55	3		3	FAT4	4	126242390	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	3120182	126242390	64911886	426	39307											
SLC25A31	83447	broad.mit.edu	37	chr4	128694557	128694557	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atagagtggtgaggctaaacGgcaatataaaggaaccttag	12	5	0	2	rs139552475	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:128694557G>T	uc003ifl.2	+	6	922	c.776G>T	c.(775-777)CGG>CTG	p.R259L		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier;	259	Solcar 3.				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity				0						GAGGCTAAACGGCAATATAAA	0.373													T	128694557	G	T	128694557	3	4	49	1	0	0	0	0	1	0	0	0	14495	1116	39	5	798	5	SLC25A31	4	128694557	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2452167	128694557	62459719	427	39308											
C4orf33	132321	broad.mit.edu	37	chr4	130023786	130023786	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggattttaaaattgaacaCacttgggatggttttccagt	9	5	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:130023786C>T	uc003igu.3	+	2	385	c.21C>T	c.(19-21)CAC>CAT	p.H7H	C4orf33_uc010ioc.1_Silent_p.H7H|C4orf33_uc010iod.2_Silent_p.H7H	NM_173487	NP_775758	Q8N1A6	CD033_HUMAN	hypothetical protein LOC132321	7										upper_aerodigestive_tract(1)	1						AAATTGAACACACTTGGGATG	0.353													T	130023786	C	T	130023786	2	4	49	1	0	0	0	0	0	0	0	1	2263	477	17	4		4	C4orf33	4	130023786	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1329229	130023786	61130490	428	39309											
SLC7A11	23657	broad.mit.edu	37	chr4	139140496	139140496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatctcttcctgaaaaggCgtctttaaagttctgcgttt	8	8	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:139140496C>T	uc011chb.1	-	5	950	c.670G>A	c.(670-672)GCC>ACC	p.A224T		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	solute carrier family 7, (cationic amino acid	224	Extracellular (Potential).				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			skin(1)	1	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	CCTGAAAAGGCGTCTTTAAAG	0.388													T	139140496	C	T	139140496	3	4	49	1	0	0	0	0	1	0	0	0	14694	768	27	1	867	1	SLC7A11	4	139140496	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	9116710	139140496	52013780	429	39310											
TBC1D9	23158	broad.mit.edu	37	chr4	141598177	141598177	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagagagtgcagtctgtGtggccatctaatttttcatc	10	9	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:141598177G>A	uc010ioj.2	-	6	1202	c.930C>T	c.(928-930)CAC>CAT	p.H310H		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	310	GRAM 2.					intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGCAGTCTGTGTGGCCATCTA	0.428													A	141598177	G	A	141598177	2	1	49	1	0	0	0	0	0	0	0	1	15624	1368	48	4		4	TBC1D9	4	141598177	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2457681	141598177	49556099	430	39311											
NR3C2	4306	broad.mit.edu	37	chr4	149356545	149356545	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgtttaatacccactgGgaatccgctgccttcacagt	7	12	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:149356545G>T	uc003ilj.3	-	2	1802	c.1468C>A	c.(1468-1470)CCA>ACA	p.P490T	NR3C2_uc003ilk.3_Missense_Mutation_p.P490T|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	490	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ATACCCACTGGGAATCCGCTG	0.458													T	149356545	G	T	149356545	3	4	49	1	0	0	0	0	1	0	0	0	10631	1232	43	5	1518	5	NR3C2	4	149356545	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	7758368	149356545	41797731	431	39312											
NR3C2	4306	broad.mit.edu	37	chr4	149357244	149357244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgagagaggagagcccaCattgctagcatgtgcagggc	14	9	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:149357244C>T	uc003ilj.3	-	2	1103	c.769G>A	c.(769-771)GTG>ATG	p.V257M	NR3C2_uc003ilk.3_Missense_Mutation_p.V257M|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	257	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGAGAGCCCACATTGCTAGCA	0.512													T	149357244	C	T	149357244	3	4	49	1	0	0	0	0	1	0	0	0	10631	478	17	4	2217	4	NR3C2	4	149357244	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	699	149357244	41797032	432	39313											
FBXW7	55294	broad.mit.edu	37	chr4	153268090	153268090	+	Frame_Shift_Del	DEL	T	T	-													tagatatgtcacctgaaacaTttttagccattcctggaggc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:153268089_153268089AT>A	uc003ims.3	-	3	881	c.719_719AT>T	c.(718-720)atgfs	p.M240fs	FBXW7_uc011cii.2_Frame_Shift_Del_p.M240fs|FBXW7_uc003imt.3_Frame_Shift_Del_p.M240fs|FBXW7_uc011cih.2_Frame_Shift_Del_p.M64fs|FBXW7_uc003imq.3_Frame_Shift_Del_p.M160fs|FBXW7_uc003imr.3_Frame_Shift_Del_p.M122fs	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	240					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.K239Q(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CACCTGAAACATTTTTAGCCA	0.428			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								-	153268090	T	-	153268090	7	5	49	1	0	1	0	1	0	0	0	0	5769	1493	52	0	1441	0	FBXW7	4	153268090	Frame_Shift_Del	DEL	T	TCGA-BR-7707-01A-11D-2053-08	3910846	153268090	37886186	433	39314											
FHDC1	85462	broad.mit.edu	37	chr4	153895835	153895835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatccctcaggacaaccaCgaccgggaggcgcaggagct	12	15	1	0	rs142902459	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:153895835C>T	uc003inf.2	+	11	1467	c.1392C>T	c.(1390-1392)CAC>CAT	p.H464H		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	464	FH2.				actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					AGGACAACCACGACCGGGAGG	0.597													T	153895835	C	T	153895835	2	4	49	1	0	0	0	0	0	0	0	1	5876	535	19	1		1	FHDC1	4	153895835	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	627745	153895835	37258441	434	39315											
KIAA0922	23240	broad.mit.edu	37	chr4	154507424	154507424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatatattttctttgaaaCttgctgttaaagacattgcc	7	6	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:154507424C>T	uc003inm.3	+	14	1424	c.1372C>T	c.(1372-1374)CTT>TTT	p.L458F	KIAA0922_uc010ipp.2_Missense_Mutation_p.L459F|KIAA0922_uc010ipq.2_Missense_Mutation_p.L311F|KIAA0922_uc010ips.1_Missense_Mutation_p.L70F	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	458	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				TTCTTTGAAACTTGCTGTTAA	0.333													T	154507424	C	T	154507424	3	4	49	1	0	0	0	0	1	0	0	0	8201	565	20	4	1429	4	KIAA0922	4	154507424	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	611589	154507424	36646852	435	39316											
GUCY1A3	2982	broad.mit.edu	37	chr4	156651343	156651343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaaagatgtggaagatgGcaatgccaattttttaggca	11	4	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:156651343G>A	uc003iov.2	+	11	2569	c.2033G>A	c.(2032-2034)GGC>GAC	p.G678D	GUCY1A3_uc003iow.2_Missense_Mutation_p.G678D|GUCY1A3_uc010iqd.2_Missense_Mutation_p.G677D|GUCY1A3_uc003iox.2_Missense_Mutation_p.G678D|GUCY1A3_uc003ioz.2_Missense_Mutation_p.G443D|GUCY1A3_uc003ioy.2_Missense_Mutation_p.G678D|GUCY1A3_uc010iqe.2_Missense_Mutation_p.G443D|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.G678D	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	678				GNANFLGKASGID -> ASQFFRQSIRNRLATYIPIYKSLG FDSLKMCRASESTLGIVDG (in Ref. 1; CAA47145).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GTGGAAGATGGCAATGCCAAT	0.393													A	156651343	G	A	156651343	3	1	49	1	0	0	0	0	1	0	0	0	6894	1203	42	2	2082	2	GUCY1A3	4	156651343	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2143919	156651343	34502933	436	39317											
GUCY1B3	2983	broad.mit.edu	37	chr4	156721176	156721176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaaatcctcactgacagGctacagctcacgttaagagc	9	12	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:156721176G>A	uc003ipc.2	+	9	1292	c.1125G>A	c.(1123-1125)AGG>AGA	p.R375R	GUCY1B3_uc011cio.1_Silent_p.R397R|GUCY1B3_uc011cip.1_Silent_p.R355R|GUCY1B3_uc003ipd.2_Silent_p.R303R|GUCY1B3_uc010iqf.2_Silent_p.R375R|GUCY1B3_uc010iqg.2_Silent_p.R303R|GUCY1B3_uc011ciq.1_Silent_p.R303R	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	375					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TCACTGACAGGCTACAGCTCA	0.433													A	156721176	G	A	156721176	2	1	49	1	0	0	0	0	0	0	0	1	6895	1194	42	2		2	GUCY1B3	4	156721176	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	69833	156721176	34433100	437	39318											
SPOCK3	50859	broad.mit.edu	37	chr4	167675864	167675864	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagtccttgcaaattggcaaGatgctggtatcgaatcctaa	10	8	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:167675864G>T	uc003iri.1	-	9	876	c.735C>A	c.(733-735)ATC>ATA	p.I245I	SPOCK3_uc011cjp.1_Silent_p.I202I|SPOCK3_uc011cjq.1_Silent_p.I254I|SPOCK3_uc011cjr.1_Silent_p.I125I|SPOCK3_uc003irj.1_Silent_p.I242I|SPOCK3_uc011cjs.1_Silent_p.I194I|SPOCK3_uc011cjt.1_Silent_p.I153I|SPOCK3_uc011cju.1_Silent_p.I138I|SPOCK3_uc011cjv.1_Silent_p.I147I|SPOCK3_uc003irk.3_Silent_p.I242I	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN	testican 3 isoform 2	245					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		AAATTGGCAAGATGCTGGTAT	0.383													T	167675864	G	T	167675864	2	4	49	1	0	0	0	0	0	0	0	1	15080	932	33	5		5	SPOCK3	4	167675864	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	10954688	167675864	23478412	438	39319											
DDX60L	91351	broad.mit.edu	37	chr4	169341447	169341448	+	Frame_Shift_Ins	INS	-	-	A													ttgtgacaataatctcttgtINSaaaagcaccgcatagagttc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:169341447_169341448insA	uc003irq.3	-	18	2699_2700	c.2478_2479insT	c.(2476-2481)TTTACAfs	p.F826fs	DDX60L_uc003irr.1_Frame_Shift_Ins_p.F826fs|DDX60L_uc003irs.1_Frame_Shift_Ins_p.F553fs	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	826_827	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TAATCTCTTGTAAAAGCACCGC	0.356													A	169341448	-	A	169341447	7	5	49	1	0	1	1	0	0	0	0	0	4379	1638	57	0	2725	0	DDX60L	4	169341447	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	1665583	169341447	21812829	439	39320	129	2									
DDX60L	91351	broad.mit.edu	37	chr4	169341448	169341449	+	Frame_Shift_Ins	INS	-	-	A													tgtgacaataatctcttgtaINSaaagcaccgcatagagttct							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:169341447_169341448T>TA	uc021xuh.1	-	16	2588_2589	c.2478_2479A>TA	c.(2476-2481)tttacafs	p.F826fs	DDX60L_uc003irq.4_Frame_Shift_Ins_p.F826fs|DDX60L_uc003irr.1_Frame_Shift_Ins_p.F826fs|DDX60L_uc003irs.1_Frame_Shift_Ins_p.F553fs	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	826	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TAATCTCTTGTAAAAGCACCGC	0.356													A	169341449	-	A	169341448	7	5	49	1	0	1	1	0	0	0	0	0	4379	359	13	0	2726	0	DDX60L	4	169341448	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	1	169341448	21812828	440	39321	129	2									
FBXO8	26269	broad.mit.edu	37	chr4	175160171	175160171	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaggccaagttctcgcattAaatcagggttgcaagcacag	10	9	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:175160171A>G	uc003itp.2	-	5	1596	c.746T>C	c.(745-747)TTA>TCA	p.L249S	FBXO8_uc003itq.2_Missense_Mutation_p.L208S	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN	F-box only protein 8	249	SEC7.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(2)	2		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		TTCTCGCATTAAATCAGGGTT	0.378													G	175160171	A	G	175160171	3	3	49	1	0	0	0	0	1	0	0	0	5761	372	13	3	221	3	FBXO8	4	175160171	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	5818723	175160171	15994105	441	39322											
STOX2	56977	broad.mit.edu	37	chr4	184932048	184932048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgtccagcaccatggtgCcgagcccagcagcttggaca	11	16	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:184932048C>T	uc003ivz.1	+	3	3492	c.2057C>T	c.(2056-2058)GCC>GTC	p.A686V	STOX2_uc003iwa.1_Missense_Mutation_p.A375V	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	storkhead box 2	686					embryo development|maternal placenta development						0		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CACCATGGTGCCGAGCCCAGC	0.567													T	184932048	C	T	184932048	3	4	49	1	0	0	0	0	1	0	0	0	15319	739	26	2	2067	2	STOX2	4	184932048	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	9771877	184932048	6222228	442	39323											
TLR3	7098	broad.mit.edu	37	chr4	186997812	186997812	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtatctacttttgggggggCcttttgccctttgggatgct	13	8	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:186997812C>T	uc003iyq.2	+	2	140	c.39C>T	c.(37-39)GGC>GGT	p.G13G		NM_003265	NP_003256	O15455	TLR3_HUMAN	toll-like receptor 3 precursor	13					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			ovary(2)|prostate(1)|lung(1)|breast(1)	5		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTTGGGGGGGCCTTTTGCCCT	0.463													T	186997812	C	T	186997812	2	4	49	1	0	0	0	0	0	0	0	1	15949	726	26	2		2	TLR3	4	186997812	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2065764	186997812	4156464	443	39324											
FAM149A	25854	broad.mit.edu	37	chr4	187077174	187077174	+	Frame_Shift_Del	DEL	A	A	-													tgatgatgaatgtcttgaacAaaaaccagctcagcccggta							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:187077174delA	uc003iyt.3	+	7	983	c.404delA	c.(403-405)CAAfs	p.Q135fs	FAM149A_uc011cla.1_Frame_Shift_Del_p.Q135fs|FAM149A_uc010isj.2_Frame_Shift_Del_p.Q135fs|FAM149A_uc010isk.2_RNA|FAM149A_uc003iyu.3_Frame_Shift_Del_p.Q135fs|FAM149A_uc010isl.2_Frame_Shift_Del_p.Q135fs|FAM149A_uc011clb.1_Frame_Shift_Del_p.Q135fs	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	hypothetical protein LOC25854	426										breast(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TGTCTTGAACAAAAACCAGCT	0.418													-	187077174	A	-	187077174	7	5	49	1	0	1	0	1	0	0	0	0	5455	130	5	0	418	0	FAM149A	4	187077174	Frame_Shift_Del	DEL	A	TCGA-BR-7707-01A-11D-2053-08	79362	187077174	4077102	444	39325											
KLKB1	3818	broad.mit.edu	37	chr4	187158011	187158011	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaaggttagcagtgttgaAgaatgccaaaaaaggtgcac	11	6	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:187158011A>C	uc003iyy.2	+	5	476	c.405A>C	c.(403-405)GAA>GAC	p.E135D	KLKB1_uc011clc.1_5'UTR|KLKB1_uc011cld.1_Missense_Mutation_p.E97D	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	135	Apple 2.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GCAGTGTTGAAGAATGCCAAA	0.398													C	187158011	A	C	187158011	3	2	49	1	0	0	0	0	1	0	0	0	8412	69	3	5	419	5	KLKB1	4	187158011	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	80837	187158011	3996265	445	39326											
SDHA	6389	broad.mit.edu	37	chr5	228384	228384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagtgccgtggtgtcatcGcactgtgcatagaggacggg	18	8	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:228384G>A	uc003jao.3	+	6	821	c.706G>A	c.(706-708)GCA>ACA	p.A236T	SDHA_uc003jan.2_Missense_Mutation_p.A236T|SDHA_uc011clv.1_Missense_Mutation_p.A236T|SDHA_uc011clw.1_Missense_Mutation_p.A188T|SDHA_uc003jap.3_Missense_Mutation_p.A236T|SDHA_uc003jaq.3_Missense_Mutation_p.A11T|SDHA_uc003jar.3_5'Flank	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	236					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TGGTGTCATCGCACTGTGCAT	0.428									Familial_Paragangliomas				A	228384	G	A	228384	3	1	49	1	0	0	0	0	1	0	0	0	13963	1087	38	1	728	1	SDHA	5	228384	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08		228384	180686876	446	39327											
SLC12A7	10723	broad.mit.edu	37	chr5	1074698	1074698	+	Frame_Shift_Del	DEL	G	G	-													tcacctccagttcttggtgtGggggggaccgtgctccacgc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:1074697_1074697TG>T	uc003jbu.3	-	15	2123	c.2057_2057CA>A	c.(2056-2058)cacfs	p.H686fs		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	686					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GTTCTTGGTGTGGGGGGGACC	0.647													-	1074698	G	-	1074698	7	5	49	1	0	1	0	1	0	0	0	0	14388	1348	47	0	1231	0	SLC12A7	5	1074698	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	846314	1074698	179840562	447	39328											
SLC6A18	348932	broad.mit.edu	37	chr5	1235625	1235625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagtgccagggcagcagcGccgtgagctacttctggtac	15	11	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:1235625G>A	uc003jby.1	+	4	592	c.469G>A	c.(469-471)GCC>ACC	p.A157T		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	157	Extracellular (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGGCAGCAGCGCCGTGAGCTA	0.607													A	1235625	G	A	1235625	3	1	49	1	0	0	0	0	1	0	0	0	14681	1087	38	1	483	1	SLC6A18	5	1235625	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	160927	1235625	179679635	448	39329											
CLPTM1L	81037	broad.mit.edu	37	chr5	1318500	1318500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttcagtccgtgtggggcGcccgcgtggccttctcctcg	14	16	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:1318500G>A	uc003jch.2	-	17	1647	c.1601C>T	c.(1600-1602)GCG>GTG	p.A534V	CLPTM1L_uc003jcg.2_Missense_Mutation_p.A365V	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	CLPTM1-like	534	Cytoplasmic (Potential).				apoptosis	integral to membrane		p.A534A(1)		breast(1)|central_nervous_system(1)	2	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CGTGTGGGGCGCCCGCGTGGC	0.527													A	1318500	G	A	1318500	3	1	49	1	0	0	0	0	1	0	0	0	3555	1087	38	1	19	1	CLPTM1L	5	1318500	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	82875	1318500	179596760	449	39330											
DNAH5	1767	broad.mit.edu	37	chr5	13901461	13901461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttggcttctgccgtgcttAgcacagctgggtgctgctgg	15	10	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:13901461A>G	uc003jfd.2	-	14	1994	c.1952T>C	c.(1951-1953)CTA>CCA	p.L651P		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	651	Stem (By similarity).				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)					TGCCGTGCTTAGCACAGCTGG	0.557									Kartagener_syndrome				G	13901461	A	G	13901461	3	3	49	1	0	0	0	0	1	0	0	0	4604	420	15	3	12186	3	DNAH5	5	13901461	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	12582961	13901461	167013799	450	39331											
MYO10	4651	broad.mit.edu	37	chr5	16670981	16670981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgagaggtgggatggcaGcgtgcagagtataatccccc	14	10	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:16670981G>A	uc003jft.3	-	39	6005	c.5537C>T	c.(5536-5538)GCT>GTT	p.A1846V	MYO10_uc011cnb.1_Missense_Mutation_p.A475V|MYO10_uc011cnc.1_Missense_Mutation_p.A725V|MYO10_uc011cnd.1_Missense_Mutation_p.A1203V|MYO10_uc011cne.1_Missense_Mutation_p.A1203V|MYO10_uc010itx.2_Missense_Mutation_p.A1468V	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1846	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						TGGGATGGCAGCGTGCAGAGT	0.562													A	16670981	G	A	16670981	3	1	49	1	0	0	0	0	1	0	0	0	10062	971	34	2	651	2	MYO10	5	16670981	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2769520	16670981	164244279	451	39332											
CDH10	1008	broad.mit.edu	37	chr5	24509701	24509701	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctggaaatagaatctggGtcccttgccattacagtacc	11	10	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:24509701G>A	uc003jgr.1	-	7	1562	c.1230C>T	c.(1228-1230)GAC>GAT	p.D410D	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	410	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		TAGAATCTGGGTCCCTTGCCA	0.308										HNSCC(23;0.051)			A	24509701	G	A	24509701	2	1	49	1	0	0	0	0	0	0	0	1	3096	1252	44	4		4	CDH10	5	24509701	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	7838720	24509701	156405559	452	39333											
NIPBL	25836	broad.mit.edu	37	chr5	36985317	36985317	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacaaaatgaaaatagactgTctgacacaaaaccaaatgac	5	8	1	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:36985317T>A	uc003jkl.3	+	10	2534	c.2035T>A	c.(2035-2037)TCT>ACT	p.S679T	NIPBL_uc003jkk.3_Missense_Mutation_p.S679T|NIPBL_uc003jkm.1_Missense_Mutation_p.S558T	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	679					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAATAGACTGTCTGACACAAA	0.398													A	36985317	T	A	36985317	3	1	49	1	0	0	0	0	1	0	0	0	10428	1667	58	5	2069	5	NIPBL	5	36985317	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	12475616	36985317	143929943	453	39334											
FYB	2533	broad.mit.edu	37	chr5	39203057	39203057	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgccccccgtgttatatttCgccatgagggactttacatc	8	12	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:39203057C>T	uc003jls.2	-	1	73	c.6G>A	c.(4-6)GCG>GCA	p.A2A	FYB_uc003jlt.2_Silent_p.A2A|FYB_uc003jlu.2_Silent_p.A2A|FYB_uc011cpl.1_Silent_p.A12A	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2	2					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)			TGTTATATTTCGCCATGAGGG	0.433													T	39203057	C	T	39203057	2	4	49	1	0	0	0	0	0	0	0	1	6124	871	31	1		1	FYB	5	39203057	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2217740	39203057	141712203	454	39335											
C9	735	broad.mit.edu	37	chr5	39311417	39311417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgttgtgagcacaacatcGcgatttctcattacaaatct	7	9	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:39311417G>A	uc003jlv.3	-	7	1022	c.933C>T	c.(931-933)CGC>CGT	p.R311R		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	311	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCACAACATCGCGATTTCTCA	0.368													A	39311417	G	A	39311417	2	1	49	1	0	0	0	0	0	0	0	1	2443	1074	38	1		1	C9	5	39311417	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	108360	39311417	141603843	455	39336											
C6	729	broad.mit.edu	37	chr5	41149541	41149541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcgggtgaagtaaagtaatCgttggagtctgtgtcaaaca	13	5	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:41149541C>T	uc003jmk.2	-	17	2635	c.2425G>A	c.(2425-2427)GAT>AAT	p.D809N	C6_uc003jml.1_Missense_Mutation_p.D809N	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	809	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GTAAAGTAATCGTTGGAGTCT	0.423													T	41149541	C	T	41149541	3	4	49	1	0	0	0	0	1	0	0	0	2315	884	31	1	387	1	C6	5	41149541	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1838124	41149541	139765719	456	39337											
ITGA1	3672	broad.mit.edu	37	chr5	52227966	52227966	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttggactacagttttacaGgtaggagaaaactacatttt	9	5	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:52227966G>T	uc003jou.2	+	22	2913	c.2861G>T	c.(2860-2862)AGC>ATC	p.S954I	ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.S485I	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	954	Extracellular (Potential).				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CAGTTTTACAGGTAGGAGAAA	0.259													T	52227966	G	T	52227966	3	4	49	1	0	0	0	0	1	0	0	0	7872	1014	35	5	2947	5	ITGA1	5	52227966	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	11078425	52227966	128687294	457	39338											
CCNO	10309	broad.mit.edu	37	chr5	54527333	54527333	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccagcgccgcctccgggTggtctcccagtcgcaagtcc	11	19	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:54527333T>C	uc003jpw.2	-	3	1080	c.923A>G	c.(922-924)CAC>CGC	p.H308R	CCNO_uc003jpv.2_RNA	NM_021147	NP_066970	P22674	CCNO_HUMAN	cyclin domain containing	308					cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity				0		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			CGCCTCCGGGTGGTCTCCCAG	0.637													C	54527333	T	C	54527333	3	2	49	1	0	0	0	0	1	0	0	0	2933	1696	59	3	133	3	CCNO	5	54527333	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	2299367	54527333	126387927	458	39339											
OCLN	4950	broad.mit.edu	37	chr5	68805354	68805354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatgttggccatggctgCcttttgtttcattgccgcgt	10	11	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:68805354C>T	uc003jwu.2	+	3	873	c.437C>T	c.(436-438)GCC>GTC	p.A146V	OCLN_uc003jwv.3_Missense_Mutation_p.A146V	NM_002538	NP_002529			occludin												0		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GCCATGGCTGCCTTTTGTTTC	0.363													T	68805354	C	T	68805354	3	4	49	1	0	0	0	0	1	0	0	0	10820	739	26	2	443	2	OCLN	5	68805354	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	14278021	68805354	112109906	459	39340											
MSH3	4437	broad.mit.edu	37	chr5	79968069	79968069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcattttttagattgcaGcccgagagctcaatatttat	6	7	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:79968069G>A	uc003kgz.2	+	5	1052	c.799G>A	c.(799-801)GCC>ACC	p.A267T		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	267	Interaction with EXO1.				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ttaGATTGCAGCCCGAGAGCT	0.274								MMR					A	79968069	G	A	79968069	3	1	49	1	0	0	0	0	1	0	0	0	9871	971	34	2	817	2	MSH3	5	79968069	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	11162715	79968069	100947191	460	39341											
CKMT2	1160	broad.mit.edu	37	chr5	80548680	80548680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accccttcataaagactgtgGgcatggtggctggtgacgag	14	9	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:80548680G>T	uc003khc.3	+	4	561	c.319G>T	c.(319-321)GGC>TGC	p.G107C	RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Missense_Mutation_p.G107C|CKMT2_uc003khd.3_Missense_Mutation_p.G107C|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	sarcomeric mitochondrial creatine kinase	107	Phosphagen kinase N-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	AAAGACTGTGGGCATGGTGGC	0.557													T	80548680	G	T	80548680	3	4	49	1	0	0	0	0	1	0	0	0	3451	1232	43	5	325	5	CKMT2	5	80548680	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	580611	80548680	100366580	461	39342											
GPR98	84059	broad.mit.edu	37	chr5	89989724	89989724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcggagggcactttggtcGgctgttgttgttctacagta	14	7	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:89989724G>A	uc003kju.2	+	33	7247	c.7151G>A	c.(7150-7152)CGG>CAG	p.R2384Q	GPR98_uc003kjt.2_Missense_Mutation_p.R90Q|GPR98_uc003kjv.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2384	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CACTTTGGTCGGCTGTTGTTG	0.428													A	89989724	G	A	89989724	3	1	49	1	0	0	0	0	1	0	0	0	6721	1116	39	1	7281	1	GPR98	5	89989724	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	9441044	89989724	90925536	462	39343											
ANKRD32	84250	broad.mit.edu	37	chr5	94030643	94030643	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctattacaaaaatagaagatAcagtggagaactttcatgca	7	6	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:94030643A>G	uc003kkr.3	+	21	2883	c.2803A>G	c.(2803-2805)ACA>GCA	p.T935A	ANKRD32_uc003kks.2_Missense_Mutation_p.T299A	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	935										ovary(2)	2		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		AATAGAAGATACAGTGGAGAA	0.358													G	94030643	A	G	94030643	3	3	49	1	0	0	0	0	1	0	0	0	660	391	14	3	2881	3	ANKRD32	5	94030643	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	4040919	94030643	86884617	463	39344											
TTC37	9652	broad.mit.edu	37	chr5	94872520	94872520	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctataataaggaagaaattaCctgattcaattaaatgcaaa	5	5	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:94872520C>T	uc003klb.2	-	10	1021	c.751_splice	c.e10+1	p.G251_splice	TTC37_uc010jbf.1_Splice_Site_p.G203_splice	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37								binding			ovary(3)|pancreas(1)	4						GAAGAAATTACCTGATTCAAT	0.343													T	94872520	C	T	94872520	5	4	49	1	0	0	0	0	0	0	1	0	16702	521	18	4	4078	4	TTC37	5	94872520	Splice_Site	SNP	C	TCGA-BR-7707-01A-11D-2053-08	841877	94872520	86042740	464	39345											
ERAP2	64167	broad.mit.edu	37	chr5	96224907	96224907	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtccatctatgcatccCcagacaaacggaatcaaaca	7	12	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:96224907C>A	uc003kmq.2	+	5	1578	c.868C>A	c.(868-870)CCA>ACA	p.P290T	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.P290T|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.P239T|ERAP2_uc003kmu.2_RNA	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	290	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CTATGCATCCCCAGACAAACG	0.408													A	96224907	C	A	96224907	3	1	49	1	0	0	0	0	1	0	0	0	5204	623	22	5	882	5	ERAP2	5	96224907	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1352387	96224907	84690353	465	39346											
SLCO4C1	353189	broad.mit.edu	37	chr5	101583012	101583012	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtaaaaataattacaatAaagaaaatgcaaaggaatat	6	2	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:101583012A>G	uc003knm.2	-	10	2042	c.1755T>C	c.(1753-1755)TTT>TTC	p.F585F		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	585	Helical; Name=10; (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TAATTACAATAAAGAAAATGC	0.363													G	101583012	A	G	101583012	2	3	49	1	0	0	0	0	0	0	0	1	14730	359	13	3		3	SLCO4C1	5	101583012	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	5358105	101583012	79332248	466	39347											
MAN2A1	4124	broad.mit.edu	37	chr5	109103321	109103321	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaccgtgctggactttcTcacatgcttatccagagagt	8	11	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:109103321T>C	uc003kou.1	+	6	1884	c.921T>C	c.(919-921)TCT>TCC	p.S307S		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	307	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CTGGACTTTCTCACATGCTTA	0.428													C	109103321	T	C	109103321	2	2	49	1	0	0	0	0	0	0	0	1	9214	1538	54	3		3	MAN2A1	5	109103321	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	7520309	109103321	71811939	467	39348											
MCC	4163	broad.mit.edu	37	chr5	112399756	112399756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcaaaggctcccccacagCtgccgtccagcttcatgagc	10	17	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:112399756C>T	uc003kqj.3	-	12	2098	c.1568G>A	c.(1567-1569)AGC>AAC	p.S523N	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.S713N|MCC_uc011cwb.1_Missense_Mutation_p.S523N	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	523					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TCCCCCACAGCTGCCGTCCAG	0.612													T	112399756	C	T	112399756	3	4	49	1	0	0	0	0	1	0	0	0	9373	797	28	2	945	2	MCC	5	112399756	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3296435	112399756	68515504	468	39349											
SEMA6A	57556	broad.mit.edu	37	chr5	115803293	115803293	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttacccttcttgtcttggTgattatgggaagacactgcc	9	11	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:115803293T>C	uc010jck.2	-	18	2589	c.1880A>G	c.(1879-1881)CAC>CGC	p.H627R	SEMA6A_uc003krx.3_Missense_Mutation_p.H644R|SEMA6A_uc003krv.3_Missense_Mutation_p.H54R|SEMA6A_uc003krw.3_Intron|SEMA6A_uc010jcj.2_Missense_Mutation_p.H171R	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	627	Extracellular (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CTTGTCTTGGTGATTATGGGA	0.532													C	115803293	T	C	115803293	3	2	49	1	0	0	0	0	1	0	0	0	14039	1696	59	3	1220	3	SEMA6A	5	115803293	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	3403537	115803293	65111967	469	39350											
TCF7	6932	broad.mit.edu	37	chr5	133477913	133477913	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgatgctaggttctggtgtaCctggtcacccagcagccatc	11	12	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:133477913C>G	uc003kyt.2	+	6	869	c.673C>G	c.(673-675)CCT>GCT	p.P225A	TCF7_uc003kyu.1_Missense_Mutation_p.P110A|TCF7_uc003kyv.2_Missense_Mutation_p.P110A|TCF7_uc003kyw.2_Missense_Mutation_p.P110A|TCF7_uc003kyx.2_Missense_Mutation_p.P23A|TCF7_uc003kyy.2_Missense_Mutation_p.P110A|TCF7_uc003kyz.2_Missense_Mutation_p.P110A|TCF7_uc003kza.2_Missense_Mutation_p.P110A|TCF7_uc003kzb.2_Missense_Mutation_p.P39A|TCF7_uc010jdu.2_5'Flank	NM_003202	NP_003193	P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific,	225					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding				0		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTGGTGTACCTGGTCACCC	0.567													G	133477913	C	G	133477913	3	3	49	1	0	0	0	0	1	0	0	0	15693	507	18	5	695	5	TCF7	5	133477913	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	17674620	133477913	47437347	470	39351											
TRPC7	57113	broad.mit.edu	37	chr5	135692494	135692494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcacttgcagaagtagtcGtggggccgctcgatgcgggc	16	10	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:135692494G>A	uc003lbn.1	-	1	582	c.579C>T	c.(577-579)CAC>CAT	p.H193H	TRPC7_uc010jef.1_Silent_p.H185H|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.H185H|TRPC7_uc010jei.1_Silent_p.H185H|TRPC7_uc010jej.1_Translation_Start_Site	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	194	Cytoplasmic (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAAGTAGTCGTGGGGCCGCT	0.607													A	135692494	G	A	135692494	2	1	49	1	0	0	0	0	0	0	0	1	16581	1136	40	1		1	TRPC7	5	135692494	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2214581	135692494	45222766	471	39352											
KLHL3	26249	broad.mit.edu	37	chr5	137056165	137056165	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagtacctccgcagttcAttcataaccttgaatgcttt	5	10	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:137056165A>G	uc010jek.2	-	2	567	c.123T>C	c.(121-123)AAT>AAC	p.N41N	MYOT_uc011cye.1_Intron|KLHL3_uc010jem.1_Intron	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	kelch-like 3	41						cytoplasm|cytoskeleton	actin binding|structural molecule activity				0		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TCCGCAGTTCATTCATAACCT	0.488													G	137056165	A	G	137056165	2	3	49	1	0	0	0	0	0	0	0	1	8383	214	8	3		3	KLHL3	5	137056165	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1363671	137056165	43859095	472	39353											
KIF20A	10112	broad.mit.edu	37	chr5	137515455	137515455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtttgagtccacagctgCagatttggggtctgtggtac	13	8	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:137515455C>T	uc003lcj.2	+	2	582	c.86C>T	c.(85-87)GCA>GTA	p.A29V	BRD8_uc003lcc.1_5'Flank|BRD8_uc003lcf.1_5'Flank|BRD8_uc003lcg.2_5'Flank|BRD8_uc003lci.2_5'Flank|BRD8_uc003lch.2_5'Flank|BRD8_uc011cym.1_5'Flank|BRD8_uc010jer.1_5'Flank|BRD8_uc011cyn.1_5'Flank|BRD8_uc010jes.1_5'Flank|KIF20A_uc011cyo.1_Missense_Mutation_p.A29V	NM_005733	NP_005724	O95235	KI20A_HUMAN	kinesin family member 20A	29					cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCCACAGCTGCAGATTTGGGG	0.567													T	137515455	C	T	137515455	3	4	49	1	0	0	0	0	1	0	0	0	8286	710	25	2	88	2	KIF20A	5	137515455	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	459290	137515455	43399805	473	39354											
REEP2	51308	broad.mit.edu	37	chr5	137781024	137781024	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcctgacggccgcctccgAcccagccctggcagcctcct	11	20	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:137781024A>G	uc003lcz.2	+	6	641	c.519A>G	c.(517-519)CGA>CGG	p.R173R	REEP2_uc003lda.2_Silent_p.R175R|REEP2_uc011cyt.1_Silent_p.R134R	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	173						integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCGCCTCCGACCCAGCCCTG	0.672													G	137781024	A	G	137781024	2	3	49	1	0	0	0	0	0	0	0	1	13205	262	10	3		3	REEP2	5	137781024	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	265569	137781024	43134236	474	39355											
SLC4A9	83697	broad.mit.edu	37	chr5	139740369	139740369	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgggagaaatgccctcaaTaacactgtctacccaccttc	6	14	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:139740369T>C	uc003lfm.2	+	2	310	c.275T>C	c.(274-276)ATA>ACA	p.I92T	SLC4A9_uc003lfj.2_Intron|SLC4A9_uc011czg.1_Intron|SLC4A9_uc003lfl.2_Intron|SLC4A9_uc003lfk.2_Intron	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	92	Cytoplasmic (Potential).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCCTCAATAACACTGTCT	0.597													C	139740369	T	C	139740369	3	2	49	1	0	0	0	0	1	0	0	0	14660	1421	49	3		3	SLC4A9	5	139740369	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1959345	139740369	41174891	475	39356											
PCDHA2	56146	broad.mit.edu	37	chr5	140176295	140176295	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgagtgagctggtgccGtggtcggtgggtgcagggca	21	7	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140176295G>A	uc003lhd.2	+	1	1852	c.1746G>A	c.(1744-1746)CCG>CCA	p.P582P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.P582P|PCDHA2_uc011czy.1_Silent_p.P582P	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	582	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGTGCCGTGGTCGGTGG	0.657													A	140176295	G	A	140176295	2	1	49	1	0	0	0	0	0	0	0	1	11524	1132	40	1		1	PCDHA2	5	140176295	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	435926	140176295	40738965	476	39357											
PCDHA3	56145	broad.mit.edu	37	chr5	140182244	140182244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcggacgcgcaggagaacGccctggtgtcctactcgctg	14	14	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140182244G>A	uc003lhf.2	+	1	1462	c.1462G>A	c.(1462-1464)GCC>ACC	p.A488T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A488T	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	488	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGAGAACGCCCTGGTGTC	0.662													A	140182244	G	A	140182244	3	1	49	1	0	0	0	0	1	0	0	0	11525	1087	38	1	1464	1	PCDHA3	5	140182244	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	5949	140182244	40733016	477	39358											
PCDHA8	56140	broad.mit.edu	37	chr5	140222046	140222046	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacgacctcgattcaggTgccaacgggcaggtgacctg	14	11	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140222046T>C	uc003lhs.2	+	1	1140	c.1140T>C	c.(1138-1140)GGT>GGC	p.G380G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.G380G	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	380	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGATTCAGGTGCCAACGGGC	0.542													C	140222046	T	C	140222046	2	2	49	1	0	0	0	0	0	0	0	1	11530	1683	59	3		3	PCDHA8	5	140222046	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	39802	140222046	40693214	478	39359											
PCDHA8	56140	broad.mit.edu	37	chr5	140223200	140223200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctctggtgaggggccacCgaagacggacctcatggcct	15	12	2	2	rs111750019	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140223200C>T	uc003lhs.2	+	1	2294	c.2294C>T	c.(2293-2295)CCG>CTG	p.P765L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.P765L	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	765	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGGGCCACCGAAGACGGAC	0.587													T	140223200	C	T	140223200	3	4	49	1	0	0	0	0	1	0	0	0	11530	652	23	1	2296	1	PCDHA8	5	140223200	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1154	140223200	40692060	479	39360											
PCDHA11	56138	broad.mit.edu	37	chr5	140248772	140248772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattctgggaggtggggagCggccagctccactactccgt	15	11	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140248772C>T	uc003lia.2	+	1	942	c.84C>T	c.(82-84)AGC>AGT	p.S28S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.S28S	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	28					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGGGAGCGGCCAGCTCC	0.622													T	140248772	C	T	140248772	2	4	49	1	0	0	0	0	0	0	0	1	11521	767	27	1		1	PCDHA11	5	140248772	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	25572	140248772	40666488	480	39361											
PCDHA13	56136	broad.mit.edu	37	chr5	140262962	140262962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcctagcgccattattgCcctaatcagtgtgtccgatc	8	13	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140262962C>T	uc003lif.2	+	1	1109	c.1109C>T	c.(1108-1110)GCC>GTC	p.A370V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A370V|PCDHA13_uc003lid.2_Missense_Mutation_p.A370V	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	370	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCATTATTGCCCTAATCAGT	0.507													T	140262962	C	T	140262962	3	4	49	1	0	0	0	0	1	0	0	0	11523	739	26	2	1111	2	PCDHA13	5	140262962	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	14190	140262962	40652298	481	39362											
PCDHA13	56136	broad.mit.edu	37	chr5	140263639	140263639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtggtggcgaaggtgcgcGcggtggacgccgattcgggc	20	10	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140263639G>A	uc003lif.2	+	1	1786	c.1786G>A	c.(1786-1788)GCG>ACG	p.A596T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A596T|PCDHA13_uc003lid.2_Missense_Mutation_p.A596T	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	596	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGGTGCGCGCGGTGGACGC	0.706													A	140263639	G	A	140263639	3	1	49	1	0	0	0	0	1	0	0	0	11523	1087	38	1	1788	1	PCDHA13	5	140263639	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	677	140263639	40651621	482	39363											
PCDHB5	26167	broad.mit.edu	37	chr5	140515685	140515685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggggctccgcccaggtcCgggaccaccacaattcgcat	13	15	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140515685C>T	uc003liq.2	+	1	886	c.669C>T	c.(667-669)TCC>TCT	p.S223S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	223	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCCAGGTCCGGGACCACCA	0.567													T	140515685	C	T	140515685	2	4	49	1	0	0	0	0	0	0	0	1	11545	639	23	1		1	PCDHB5	5	140515685	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	252046	140515685	40399575	483	39364											
PCDHB5	26167	broad.mit.edu	37	chr5	140516972	140516972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggcgagcctccgcgctcGgccaccgccacgctgcacgt	12	18	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140516972G>A	uc003liq.2	+	1	2173	c.1956G>A	c.(1954-1956)TCG>TCA	p.S652S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	652	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCGCGCTCGGCCACCGCCA	0.726													A	140516972	G	A	140516972	2	1	49	1	0	0	0	0	0	0	0	1	11545	1103	39	1		1	PCDHB5	5	140516972	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1287	140516972	40398288	484	39365											
PCDHB5	26167	broad.mit.edu	37	chr5	140517397	140517397	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccggaatagctttggatTaaattagagatctcgtgatg	10	6	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140517397T>C	uc003liq.2	+	1	2598	c.2381T>C	c.(2380-2382)TTA>TCA	p.L794S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	794	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTTTGGATTAAATTAGAGA	0.433													C	140517397	T	C	140517397	3	2	49	1	0	0	0	0	1	0	0	0	11545	1764	61	3	2383	3	PCDHB5	5	140517397	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	425	140517397	40397863	485	39366											
PCDHB7	56129	broad.mit.edu	37	chr5	140554495	140554495	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctggtggtggcgttggcCtcggtgtcttcgctcttcct	13	12	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140554495C>T	uc003lit.2	+	1	2253	c.2079C>T	c.(2077-2079)GCC>GCT	p.A693A	PCDHB8_uc011dai.1_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	693	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGTTGGCCTCGGTGTCTT	0.706													T	140554495	C	T	140554495	2	4	49	1	0	0	0	0	0	0	0	1	11547	668	24	4		4	PCDHB7	5	140554495	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	37098	140554495	40360765	486	39367											
PCDHB8	56128	broad.mit.edu	37	chr5	140559119	140559119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatccgcacctgcccctcGcctccctggtctccatcaac	7	20	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140559119G>A	uc011dai.1	+	1	1690	c.1504G>A	c.(1504-1506)GCC>ACC	p.A502T	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	502	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCCCCTCGCCTCCCTGGT	0.672													A	140559119	G	A	140559119	3	1	49	1	0	0	0	0	1	0	0	0	11548	1087	38	1	1506	1	PCDHB8	5	140559119	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4624	140559119	40356141	487	39368											
PCDHB16	57717	broad.mit.edu	37	chr5	140562190	140562190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtccttgttttctttgTtttgctgagcttgtctgggg	12	7	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140562190T>C	uc003liv.2	+	1	1211	c.56T>C	c.(55-57)GTT>GCT	p.V19A	PCDHB16_uc010jfw.1_Intron	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	19					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTTTCTTTGTTTTGCTGAGC	0.478													C	140562190	T	C	140562190	3	2	49	1	0	0	0	0	1	0	0	0	11541	1725	60	3	58	3	PCDHB16	5	140562190	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	3071	140562190	40353070	488	39369											
PCDHB10	56126	broad.mit.edu	37	chr5	140574321	140574321	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctgctcggtgcccgagggTccttttccagggcatctggt	14	13	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140574321T>C	uc003lix.2	+	1	2370	c.2196T>C	c.(2194-2196)GGT>GGC	p.G732G		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	732	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCCCGAGGGTCCTTTTCCAG	0.662													C	140574321	T	C	140574321	2	2	49	1	0	0	0	0	0	0	0	1	11535	1654	58	3		3	PCDHB10	5	140574321	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	12131	140574321	40340939	489	39370											
PCDHB12	56124	broad.mit.edu	37	chr5	140590121	140590121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcagcgaggcgctggtgCgcgtgctggtgctggacgcc	19	11	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140590121C>T	uc003liz.2	+	1	1831	c.1642C>T	c.(1642-1644)CGC>TGC	p.R548C	PCDHB12_uc011dak.1_Missense_Mutation_p.R211C	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	548	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGCTGGTGCGCGTGCTGGT	0.706													T	140590121	C	T	140590121	3	4	49	1	0	0	0	0	1	0	0	0	11537	768	27	1	1644	1	PCDHB12	5	140590121	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	15800	140590121	40325139	490	39371											
PCDHB14	56122	broad.mit.edu	37	chr5	140603564	140603564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcaagatttggatgtcGgaagcaacagtctccaaaac	10	9	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140603564G>A	uc003ljb.2	+	1	487	c.487G>A	c.(487-489)GGA>AGA	p.G163R	PCDHB14_uc011dal.1_Missense_Mutation_p.G10R	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	163	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGGATGTCGGAAGCAACAG	0.408													A	140603564	G	A	140603564	3	1	49	1	0	0	0	0	1	0	0	0	11539	1117	39	1	489	1	PCDHB14	5	140603564	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	13443	140603564	40311696	491	39372											
PCDHGA4	56111	broad.mit.edu	37	chr5	140737100	140737100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacccagctatgcagacaCgctcatcagccgggagagtt	10	14	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140737100C>T	uc003ljq.1	+	1	2333	c.2333C>T	c.(2332-2334)ACG>ATG	p.T778M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGB2_uc003ljs.1_5'Flank|PCDHGA4_uc003ljp.1_Missense_Mutation_p.T778M|PCDHGB2_uc011dar.1_5'Flank	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	778	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGCAGACACGCTCATCAGC	0.527													T	140737100	C	T	140737100	3	4	49	1	0	0	0	0	1	0	0	0	11556	536	19	1	2335	1	PCDHGA4	5	140737100	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	133536	140737100	40178160	492	39373											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769364	140769364	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgacagggacgccgtccgccAgcgccttctggtcgccgtgc	14	17	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140769364A>C	uc003lkc.1	+	1	1913	c.1913A>C	c.(1912-1914)CAG>CCG	p.Q638P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.Q638P	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	638	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|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)			GCCGTCCGCCAGCGCCTTCTG	0.701													C	140769364	A	C	140769364	3	2	49	1	0	0	0	0	1	0	0	0	11565	188	7	5	1915	5	PCDHGB4	5	140769364	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	32264	140769364	40145896	493	39374											
PCDHGB5	56101	broad.mit.edu	37	chr5	140778761	140778761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaatgattctggaaaacgCggtgcctggaacactaattg	11	7	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140778761C>T	uc003lkf.1	+	1	1067	c.1067C>T	c.(1066-1068)GCG>GTG	p.A356V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.A356V	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	356	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)			CTGGAAAACGCGGTGCCTGGA	0.378													T	140778761	C	T	140778761	3	4	49	1	0	0	0	0	1	0	0	0	11566	768	27	1	1069	1	PCDHGB5	5	140778761	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	9397	140778761	40136499	494	39375											
PCDHGC4	56098	broad.mit.edu	37	chr5	140864818	140864818	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttttaccacctgggttaCgtttgtgggcagatccgcta	10	11	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140864818C>T	uc003lky.1	+	1	78	c.78C>T	c.(76-78)TAC>TAT	p.Y26Y	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Silent_p.Y26Y	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	26					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGGGTTACGTTTGTGGGC	0.537													T	140864818	C	T	140864818	2	4	49	1	0	0	0	0	0	0	0	1	11570	547	19	1		1	PCDHGC4	5	140864818	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	86057	140864818	40050442	495	39376											
RBM27	54439	broad.mit.edu	37	chr5	145609441	145609441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaagccgaagtagggggcGcagcaaagaccgggatccaa	15	9	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:145609441G>A	uc003lnz.3	+	5	723	c.557G>A	c.(556-558)CGC>CAC	p.R186H	RBM27_uc003lny.2_Missense_Mutation_p.R186H	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	186	Arg-rich.				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			central_nervous_system(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTAGGGGGCGCAGCAAAGAC	0.418													A	145609441	G	A	145609441	3	1	49	1	0	0	0	0	1	0	0	0	13127	1087	38	1	575	1	RBM27	5	145609441	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4744623	145609441	35305819	496	39377											
PPP2R2B	5521	broad.mit.edu	37	chr5	146077585	146077585	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcattctgctgggggagCcatcttattttattgatttt	10	7	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:146077585C>T	uc003loe.2	-	3	816	c.291G>A	c.(289-291)TGG>TGA	p.W97*	PPP2R2B_uc010jgm.2_Nonsense_Mutation_p.W86*|PPP2R2B_uc003log.3_Nonsense_Mutation_p.W97*|PPP2R2B_uc003lof.3_Nonsense_Mutation_p.W97*|PPP2R2B_uc003loi.3_Nonsense_Mutation_p.W100*|PPP2R2B_uc003loh.3_Nonsense_Mutation_p.W97*|PPP2R2B_uc003loj.3_Nonsense_Mutation_p.W77*|PPP2R2B_uc003lok.3_Nonsense_Mutation_p.W86*|PPP2R2B_uc011dbu.1_Nonsense_Mutation_p.W103*|PPP2R2B_uc011dbv.1_Nonsense_Mutation_p.W155*	NM_004576	NP_004567	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	97	WD 2.				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)|prostate(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGGGGGAGCCATCTTATTT	0.388													T	146077585	C	T	146077585	4	4	49	1	0	0	0	0	0	1	0	0	12385	740	26	2	1068	2	PPP2R2B	5	146077585	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	468144	146077585	34837675	497	39378											
DPYSL3	1809	broad.mit.edu	37	chr5	146788353	146788353	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccatttccaacatgcgggTttgctcctgaaatgaaaaaa	7	11	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:146788353T>C	uc003lon.1	-	7	738	c.628A>G	c.(628-630)ACC>GCC	p.T210A	DPYSL3_uc003loo.2_Missense_Mutation_p.T324A	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	210					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACATGCGGGTTTGCTCCTGA	0.418													C	146788353	T	C	146788353	3	2	49	1	0	0	0	0	1	0	0	0	4748	1725	60	3	1116	3	DPYSL3	5	146788353	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	710768	146788353	34126907	498	39379											
CSNK1A1	1452	broad.mit.edu	37	chr5	148886637	148886637	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatacatgtaatctggggcTtcctcaaagcgtagcccacg	10	11	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:148886637T>G	uc003lqx.1	-	8	1290	c.810A>C	c.(808-810)GAA>GAC	p.E270D	CSNK1A1_uc011dcb.1_Missense_Mutation_p.E179D|CSNK1A1_uc011dcc.1_Missense_Mutation_p.E209D|CSNK1A1_uc003lqv.1_Missense_Mutation_p.E181D|CSNK1A1_uc003lqw.1_Missense_Mutation_p.E298D|CSNK1A1_uc003lqy.1_Missense_Mutation_p.E270D|CSNK1A1_uc010jha.1_Missense_Mutation_p.E270D	NM_001892	NP_001883	P48729	KC1A_HUMAN	casein kinase 1, alpha 1 isoform 2	270	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein binding|protein serine/threonine kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		AATCTGGGGCTTCCTCAAAGC	0.373													G	148886637	T	G	148886637	3	3	49	1	0	0	0	0	1	0	0	0	3950	1606	56	5	215	5	CSNK1A1	5	148886637	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	2098284	148886637	32028623	499	39380											
TIGD6	81789	broad.mit.edu	37	chr5	149375905	149375905	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgcttcttgttccccttgtTtgccatttccagggaatgag	9	11	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:149375905T>C	uc003lri.2	-	2	769	c.7A>G	c.(7-9)AAC>GAC	p.N3D	TIGD6_uc003lrj.2_Missense_Mutation_p.N3D	NM_030953	NP_112215	Q17RP2	TIGD6_HUMAN	hypothetical protein LOC81789	3	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTCCCCTTGTTTGCCATTTCC	0.512													C	149375905	T	C	149375905	3	2	49	1	0	0	0	0	1	0	0	0	15897	1841	64	3	1562	3	TIGD6	5	149375905	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	489268	149375905	31539355	500	39381											
CSF1R	1436	broad.mit.edu	37	chr5	149460351	149460351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgacatagaggtggatggCggcgctgcctcccagggggt	17	9	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:149460351C>T	uc003lrl.2	-	2	481	c.286G>A	c.(286-288)GCC>ACC	p.A96T	CSF1R_uc011dcd.1_5'UTR|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.A96T|CSF1R_uc011dce.1_Missense_Mutation_p.A96T|CSF1R_uc011dcf.1_Missense_Mutation_p.A96T	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	96	Ig-like C2-type 1.|Extracellular (Potential).				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AGGTGGATGGCGGCGCTGCCT	0.582													T	149460351	C	T	149460351	3	4	49	1	0	0	0	0	1	0	0	0	3932	768	27	1	2712	1	CSF1R	5	149460351	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	84446	149460351	31454909	501	39382											
TCOF1	6949	broad.mit.edu	37	chr5	149751643	149751643	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtctccagcaagaaaggcGgccccagcccctgggaaggt	14	13	1	1	rs147186583	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:149751643G>A	uc003lry.2	+	7	822	c.714G>A	c.(712-714)GCG>GCA	p.A238A	TCOF1_uc003lrw.2_Silent_p.A238A|TCOF1_uc011dch.1_Silent_p.A238A|TCOF1_uc003lrz.2_Silent_p.A238A|TCOF1_uc003lrx.2_Intron|TCOF1_uc003lsa.2_Intron	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	238					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAGAAAGGCGGCCCCAGCCC	0.567													A	149751643	G	A	149751643	2	1	49	1	0	0	0	0	0	0	0	1	15705	1103	39	1		1	TCOF1	5	149751643	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	291292	149751643	31163617	502	39383											
FAT2	2196	broad.mit.edu	37	chr5	150887067	150887067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttatgataatgaacgccacGgccactgtgatgatcagtaa	9	9	1	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:150887067G>A	uc003lue.3	-	22	12178	c.12165C>T	c.(12163-12165)GCC>GCT	p.A4055A	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Silent_p.A662A	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	4055	Helical; (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAACGCCACGGCCACTGTGA	0.572													A	150887067	G	A	150887067	2	1	49	1	0	0	0	0	0	0	0	1	5690	1103	39	1		1	FAT2	5	150887067	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1135424	150887067	30028193	503	39384											
SPARC	6678	broad.mit.edu	37	chr5	151043781	151043781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgcagtggagccagctcGgtgtgggagaggtacctgca	17	10	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:151043781G>A	uc003luh.2	-	8	774	c.750C>T	c.(748-750)ACC>ACT	p.T250T	GM2A_uc011dcs.1_Intron|SPARC_uc003lug.2_Silent_p.T84T|SPARC_uc003lui.2_Silent_p.T250T	NM_003118	NP_003109	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich	250					ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(1)	1		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	GAGCCAGCTCGGTGTGGGAGA	0.622													A	151043781	G	A	151043781	2	1	49	1	0	0	0	0	0	0	0	1	14994	1103	39	1		1	SPARC	5	151043781	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	156714	151043781	29871479	504	39385											
LARP1	23367	broad.mit.edu	37	chr5	154181920	154181920	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctactatgagcaggacctGtgggctgaaaagtttgaacc	11	8	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:154181920G>A	uc003lvp.2	+	11	2499	c.2070G>A	c.(2068-2070)CTG>CTA	p.L690L	LARP1_uc003lvo.2_Silent_p.L613L|LARP1_uc010jie.1_Silent_p.L485L	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	690							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGCAGGACCTGTGGGCTGAAA	0.547													A	154181920	G	A	154181920	2	1	49	1	0	0	0	0	0	0	0	1	8628	1364	48	4		4	LARP1	5	154181920	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	3138139	154181920	26733340	505	39386											
ADAM19	8728	broad.mit.edu	37	chr5	156915296	156915296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaacgatgcaatttggtgCggggggaattggccggcttg	18	6	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:156915296C>T	uc003lwz.2	-	21	2591	c.2527G>A	c.(2527-2529)GCA>ACA	p.A843T	ADAM19_uc003lww.1_Missense_Mutation_p.A576T|ADAM19_uc003lwy.2_Missense_Mutation_p.A442T|ADAM19_uc011ddr.1_Missense_Mutation_p.A774T	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	843	Cytoplasmic (Potential).|SH3-binding (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATTTGGTGCGGGGGGAATT	0.562													T	156915296	C	T	156915296	3	4	49	1	0	0	0	0	1	0	0	0	240	768	27	1	241	1	ADAM19	5	156915296	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2733376	156915296	23999964	506	39387											
SLIT3	6586	broad.mit.edu	37	chr5	168250317	168250319	+	In_Frame_Del	DEL	TGT	TGT	-													ggtgaccaggatgcgactgaTgttgttgttgttgagggtac							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:168250316_168250318ATGT>A	uc010jjg.3	-	6	996_998	c.576_578ACAT>T	c.(574-579)aacatc>aaTc	p.I193del	SLIT3_uc003mab.3_In_Frame_Del_p.I193del|SLIT3_uc010jji.2_In_Frame_Del_p.I193del|SLIT3_uc003mac.1_5'UTR	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	193					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATGCGACTGATGTTGTTGTTGT	0.542													-	168250319	TGT	-	168250317	7	5	49	1	0	1	0	1	0	0	0	0	14741	1464	51	0	4114	0	SLIT3	5	168250317	In_Frame_Del	DEL	TGT	TCGA-BR-7707-01A-11D-2053-08	11335021	168250317	12664943	507	39388											
DOCK2	1794	broad.mit.edu	37	chr5	169506070	169506070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcctgaggtcaagctgCggaggtccaagaagaggaca	14	11	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:169506070C>T	uc003maf.2	+	49	5166	c.5086C>T	c.(5086-5088)CGG>TGG	p.R1696W	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R1188W|DOCK2_uc003mah.2_Missense_Mutation_p.R252W	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1696					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCAAGCTGCGGAGGTCCAA	0.572													T	169506070	C	T	169506070	3	4	49	1	0	0	0	0	1	0	0	0	4687	759	27	1	5280	1	DOCK2	5	169506070	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1255753	169506070	11409190	508	39389											
STK10	6793	broad.mit.edu	37	chr5	171520517	171520517	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggctgctgcagtccgAgtccctcttggaaggccctg	14	13	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:171520517A>G	uc003mbo.1	-	9	1753	c.1453T>C	c.(1453-1455)TCG>CCG	p.S485P		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	485							ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTGCAGTCCGAGTCCCTCTTG	0.607													G	171520517	A	G	171520517	3	3	49	1	0	0	0	0	1	0	0	0	15285	304	11	3	1497	3	STK10	5	171520517	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	2014447	171520517	9394743	509	39390											
TSPAN17	26262	broad.mit.edu	37	chr5	176078866	176078866	+	Frame_Shift_Del	DEL	G	G	-													tgggctttgctggctgcattGgggccctccgggagaacacc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:176078865_176078865TG>T	uc003met.3	+	2	478	c.249_249TG>T	c.(247-249)attfs	p.I83fs	TSPAN17_uc003mes.3_Intron|TSPAN17_uc003meu.3_Frame_Shift_Del_p.I83fs|TSPAN17_uc003mew.3_Frame_Shift_Del_p.I83fs	NM_012171	NP_036303	Q96FV3	TSN17_HUMAN	Homo sapiens tetraspanin 17 (TSPAN17), transcript variant 1, mRNA.	83						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGCTGCATTGGGGCCCTCC	0.582													-	176078866	G	-	176078866	7	5	49	1	0	1	0	1	0	0	0	0	16638	1348	47	0	260	0	TSPAN17	5	176078866	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	4558349	176078866	4836394	510	39391											
TSPAN17	26262	broad.mit.edu	37	chr5	176079825	176079825	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttcaaggactggattcgaGaccagctcaacctcttcatc	7	13	5	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:176079825G>A	uc003met.2	+	4	596	c.367G>A	c.(367-369)GAC>AAC	p.D123N	TSPAN17_uc003mes.3_Missense_Mutation_p.D57N|TSPAN17_uc003meu.2_Missense_Mutation_p.D123N|TSPAN17_uc003mev.2_Missense_Mutation_p.D123N|TSPAN17_uc003mew.2_Missense_Mutation_p.D123N	NM_012171	NP_036303	Q96FV3	TSN17_HUMAN	transmembrane 4 superfamily member 17 isoform a	123	Extracellular (Potential).					integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity				0	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGATTCGAGACCAGCTCAA	0.522													A	176079825	G	A	176079825	3	1	49	1	0	0	0	0	1	0	0	0	16638	942	33	4	381	4	TSPAN17	5	176079825	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	959	176079825	4835435	511	39392											
NSD1	64324	broad.mit.edu	37	chr5	176719126	176719126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcccaaaagtttaccacGcagactgtctcaatctgacc	7	14	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:176719126G>A	uc003mfr.3	+	22	6568	c.6430G>A	c.(6430-6432)GCA>ACA	p.A2144T	NSD1_uc003mft.3_Missense_Mutation_p.A1875T|NSD1_uc011dfx.1_Missense_Mutation_p.A1792T	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2144	PHD-type 4; atypical.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGTTTACCACGCAGACTGTCT	0.502			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			A	176719126	G	A	176719126	3	1	49	1	0	0	0	0	1	0	0	0	10669	1087	38	1	6512	1	NSD1	5	176719126	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	639301	176719126	4196134	512	39393											
FAM193B	54540	broad.mit.edu	37	chr5	176966091	176966091	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttcttcccagcctttgcGttcccggtgacacagcaggc	10	16	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:176966091G>A	uc003mhs.3	-	3	1518	c.-71C>T	c.(-73--69)AACGC>AATGC		FAM193B_uc003mht.2_5'Flank|FAM193B_uc003mhu.2_5'Flank|FAM193B_uc003mhv.2_Translation_Start_Site|FAM193B_uc003mhw.2_RNA	NM_019057	NP_061930	E9PET5	E9PET5_HUMAN	hypothetical protein LOC54540												0						CAGCCTTTGCGTTCCCGGTGA	0.587													A	176966091	G	A	176966091	1	1	49	1	0	0	0	0	0	0	0	0	5525	1160	40	1		1	FAM193B	5	176966091	Translation_Start_Site	SNP	G	TCGA-BR-7707-01A-11D-2053-08	246965	176966091	3949169	513	39394											
HNRNPAB	3182	broad.mit.edu	37	chr5	177633848	177633848	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggggtctgaatcctgaagCcactgaggaaaagatcaggg	15	7	2	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:177633848C>A	uc003miu.2	+	4	751	c.494C>A	c.(493-495)GCC>GAC	p.A165D	HNRNPAB_uc003miv.2_Missense_Mutation_p.A165D|HNRNPAB_uc010jks.2_Missense_Mutation_p.A165D|HNRNPAB_uc003miw.2_Missense_Mutation_p.A165D|HNRNPAB_uc003mix.2_Missense_Mutation_p.A165D	NM_031266	NP_112556	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0						AATCCTGAAGCCACTGAGGAA	0.537													A	177633848	C	A	177633848	3	1	49	1	0	0	0	0	1	0	0	0	7261	739	26	5	504	5	HNRNPAB	5	177633848	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	667757	177633848	3281412	514	39395											
AGXT2L2	85007	broad.mit.edu	37	chr5	177642329	177642329	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgcccgaggagctgcaTcaggaagctgcctacactgg	13	12	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:177642329T>C	uc003miz.2	-	9	1282	c.1030A>G	c.(1030-1032)ATG>GTG	p.M344V	AGXT2L2_uc003miy.2_Missense_Mutation_p.M69V|AGXT2L2_uc003mjc.2_Missense_Mutation_p.M303V|AGXT2L2_uc003mja.2_RNA|AGXT2L2_uc003mjb.2_Missense_Mutation_p.M69V|AGXT2L2_uc003mjd.1_Missense_Mutation_p.M202V	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	alanine-glyoxylate aminotransferase 2-like 2	344						mitochondrion	pyridoxal phosphate binding|transaminase activity			pancreas(1)	1	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AGGAGCTGCATCAGGAAGCTG	0.617													C	177642329	T	C	177642329	3	2	49	1	0	0	0	0	1	0	0	0	407	1435	50	3	338	3	AGXT2L2	5	177642329	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	8481	177642329	3272931	515	39396											
GRM6	2916	broad.mit.edu	37	chr5	178413950	178413950	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccgcccgggcgcatctccGttctcgttgaacatcacagg	10	15	3	1	rs139745015		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:178413950G>A	uc003mjr.2	-	7	1568	c.1389C>T	c.(1387-1389)AAC>AAT	p.N463N	GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Silent_p.N46N|GRM6_uc003mjs.1_Silent_p.N83N	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	463	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCGCATCTCCGTTCTCGTTGA	0.657													A	178413950	G	A	178413950	2	1	49	1	0	0	0	0	0	0	0	1	6801	1136	40	1		1	GRM6	5	178413950	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	771621	178413950	2501310	516	39397											
RUFY1	80230	broad.mit.edu	37	chr5	178996343	178996343	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttaatgatggaggaagaaGggatggtgattgttggtctg	16	2	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:178996343G>T	uc003mka.1	+	5	745	c.745G>T	c.(745-747)GGG>TGG	p.G249W	RUFY1_uc003mkb.1_Missense_Mutation_p.G141W|RUFY1_uc003mkc.1_Missense_Mutation_p.G141W	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	RUN and FYVE domain-containing 1 isoform a	249	RUN.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			ovary(4)|breast(1)	5	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGGAAGAAGGGATGGTGAT	0.473										HNSCC(44;0.11)			T	178996343	G	T	178996343	3	4	49	1	0	0	0	0	1	0	0	0	13738	1000	35	5	763	5	RUFY1	5	178996343	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	582393	178996343	1918917	517	39398											
BTNL9	153579	broad.mit.edu	37	chr5	180486592	180486592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccctgcgcgtgcccccGcggcgcctgggcgtcttcct	12	20	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:180486592G>A	uc003mmt.2	+	11	1569	c.1338G>A	c.(1336-1338)CCG>CCA	p.P446P		NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9 precursor	446	Cytoplasmic (Potential).|B30.2/SPRY.					integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(89;2.45e-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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGTGCCCCCGCGGCGCCTGG	0.687													A	180486592	G	A	180486592	2	1	49	1	0	0	0	0	0	0	0	1	1568	1074	38	1		1	BTNL9	5	180486592	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1490249	180486592	428668	518	39399											
FOXQ1	94234	broad.mit.edu	37	chr6	1313402	1313402	+	Frame_Shift_Del	DEL	T	T	-													acctcatgggcaagttccccTttttccgcggcagctacacg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:1313401_1313401CT>C	uc003mtl.4	+	0	727	c.462_462CT>C	c.(460-462)cccfs	p.P154fs		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	Homo sapiens forkhead box Q1 (FOXQ1), mRNA.	154					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|caspase regulator activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GCAAGTTCCCCTTTTTCCGCG	0.652													-	1313402	T	-	1313402	7	5	49	1	0	1	0	1	0	0	0	0	6030	1609	56	0	465	0	FOXQ1	6	1313402	Frame_Shift_Del	DEL	T	TCGA-BR-7707-01A-11D-2053-08		1313402	169801665	519	39400											
C6orf145	221749	broad.mit.edu	37	chr6	3751713	3751713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgccgttcacccagcagCcgcgcacgaacatgttcacg	11	15	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:3751713C>T	uc003mvt.2	-	1	534	c.53G>A	c.(52-54)GGC>GAC	p.G18D		NM_183373	NP_899229	Q5TGL8	CF145_HUMAN	hypothetical protein LOC221749	18	PX.				cell communication		phosphatidylinositol binding			breast(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CACCCAGCAGCCGCGCACGAA	0.622													T	3751713	C	T	3751713	3	4	49	1	0	0	0	0	1	0	0	0	2334	739	26	2	662	2	C6orf145	6	3751713	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2438311	3751713	167363354	520	39401											
GCNT2	2651	broad.mit.edu	37	chr6	10529926	10529926	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatgacatggtgatttActttggcacggcctacgtgg	11	10	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:10529926A>G	uc010joo.2	+	3	1333	c.782A>G	c.(781-783)TAC>TGC	p.Y261C	GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Missense_Mutation_p.Y260C|GCNT2_uc010jon.2_Missense_Mutation_p.Y260C	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2,	261	Lumenal (Potential).					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(2)	2	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		ATGGTGATTTACTTTGGCACG	0.453													G	10529926	A	G	10529926	3	3	49	1	0	0	0	0	1	0	0	0	6301	391	14	3	784	3	GCNT2	6	10529926	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	6778213	10529926	160585141	521	39402											
CAP2	10486	broad.mit.edu	37	chr6	17551823	17551823	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaacatacttatccctcaGgatggtgattatgtaagtac	8	7	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:17551823G>T	uc003ncb.2	+	12	1581	c.1338G>T	c.(1336-1338)CAG>CAT	p.Q446H	CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Missense_Mutation_p.Q420H|CAP2_uc011djb.1_Missense_Mutation_p.Q382H|CAP2_uc011djc.1_Missense_Mutation_p.Q334H|CAP2_uc011djd.1_Missense_Mutation_p.Q186H	NM_006366	NP_006357	P40123	CAP2_HUMAN	adenylyl cyclase-associated protein 2	446	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			ovary(1)	1	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TTATCCCTCAGGATGGTGATT	0.383													T	17551823	G	T	17551823	3	4	49	1	0	0	0	0	1	0	0	0	2620	991	35	5	1380	5	CAP2	6	17551823	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	7021897	17551823	153563244	522	39403											
NRSN1	140767	broad.mit.edu	37	chr6	24145884	24145884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcgaagccgattttgtgGtggtcgacacacatgctgtc	13	9	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:24145884G>A	uc010jpq.1	+	4	535	c.298G>A	c.(298-300)GTG>ATG	p.V100M		NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN	neurensin 1	100					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle					0						CGATTTTGTGGTGGTCGACAC	0.517													A	24145884	G	A	24145884	3	1	49	1	0	0	0	0	1	0	0	0	10662	1261	44	4	304	4	NRSN1	6	24145884	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	6594061	24145884	146969183	523	39404											
ZNF192	7745	broad.mit.edu	37	chr6	28121148	28121148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccttcagttacaggtcaGcccttctttcacatcaggat	7	12	5	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:28121148G>A	uc003nkn.1	+	6	1274	c.1090G>A	c.(1090-1092)GCC>ACC	p.A364T	ZNF192_uc010jqx.1_Missense_Mutation_p.A364T|ZNF192_uc010jqy.1_Missense_Mutation_p.A177T|ZNF192_uc011dkz.1_Missense_Mutation_p.A177T	NM_006298	NP_006289	Q15776	ZN192_HUMAN	zinc finger protein 192	364	C2H2-type 2.				viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TTACAGGTCAGCCCTTCTTTC	0.483													A	28121148	G	A	28121148	3	1	49	1	0	0	0	0	1	0	0	0	17753	971	34	2	1108	2	ZNF192	6	28121148	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	3975264	28121148	142993919	524	39405											
GPX6	257202	broad.mit.edu	37	chr6	28472268	28472268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagatcagaggtcggagggCaggagttctggagcagagat	17	5	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:28472268C>T	uc011dlj.1	-	6	517	c.467G>A	c.(466-468)TGC>TAC	p.C156Y	GPX6_uc010jrg.1_RNA	NM_182701	NP_874360	P59796	GPX6_HUMAN	glutathione peroxidase 6 precursor	156					response to oxidative stress	extracellular region	glutathione peroxidase activity			ovary(3)|pancreas(1)|skin(1)	5					Glutathione(DB00143)	GGTCGGAGGGCAGGAGTTCTG	0.438													T	28472268	C	T	28472268	3	4	49	1	0	0	0	0	1	0	0	0	6744	710	25	2	202	2	GPX6	6	28472268	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	351120	28472268	142642799	525	39406											
SCAND3	114821	broad.mit.edu	37	chr6	28543694	28543694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcaactgattcctttttcGccttagctttagcttctttc	5	11	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:28543694G>A	uc003nlo.2	-	3	1406	c.788C>T	c.(787-789)GCG>GTG	p.A263V		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	263	Potential.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TTCCTTTTTCGCCTTAGCTTT	0.358													A	28543694	G	A	28543694	3	1	49	1	0	0	0	0	1	0	0	0	13876	1087	38	1	3197	1	SCAND3	6	28543694	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	71426	28543694	142571373	526	39407											
TRIM27	5987	broad.mit.edu	37	chr6	28876796	28876796	+	Frame_Shift_Del	DEL	A	A	-													aagaatagacatttttgggcAaaaatgtggattttctcttg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:28876795_28876795CA>C	uc003nlr.3	-	4	1200	c.841_841TG>G	c.(841-843)gccfs	p.A281fs	TRIM27_uc003nls.3_Frame_Shift_Del_p.A281fs|TRIM27_uc003nlt.1_Frame_Shift_Del_p.A281fs	NM_006510	NP_006501	P14373	TRI27_HUMAN	Homo sapiens tripartite motif containing 27 (TRIM27), mRNA.	281					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	PML body|cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CATTTTTGGGCAAAAATGTGG	0.378			T	RET	papillary thyroid								-	28876796	A	-	28876796	7	5	49	1	0	1	0	1	0	0	0	0	16498	127	5	0	717	0	TRIM27	6	28876796	Frame_Shift_Del	DEL	A	TCGA-BR-7707-01A-11D-2053-08	333102	28876796	142238271	527	39408											
BAT3	7917	broad.mit.edu	37	chr6	31609931	31609931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaagatgttgctggatcCactgaggcgttgtatgaagg	13	7	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:31609931C>T	uc003nvg.3	-	15	2517	c.2203G>A	c.(2203-2205)GGA>AGA	p.G735R	BAT3_uc003nvf.3_Missense_Mutation_p.G729R|BAT3_uc003nvh.3_Missense_Mutation_p.G729R|BAT3_uc003nvi.3_Missense_Mutation_p.G729R|BAT3_uc011dnw.1_Missense_Mutation_p.G729R|BAT3_uc011dnx.1_Missense_Mutation_p.G603R	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	735					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0						TTGCTGGATCCACTGAGGCGT	0.577													T	31609931	C	T	31609931	3	4	49	1	0	0	0	0	1	0	0	0	1322	603	21	4	1239	4	BAT3	6	31609931	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2733135	31609931	139505136	528	39409											
C6orf47	57827	broad.mit.edu	37	chr6	31626870	31626870	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcccgggtctcccctctgCtcctcaccttccctctccaa	4	21	4	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:31626870C>T	uc003nvm.1	-	1	1680	c.855G>A	c.(853-855)GAG>GAA	p.E285E		NM_021184	NP_067007	O95873	CF047_HUMAN	G4 protein	285										ovary(1)	1						CTCCCCTCTGCTCCTCACCTT	0.617													T	31626870	C	T	31626870	2	4	49	1	0	0	0	0	0	0	0	1	2364	796	28	2		2	C6orf47	6	31626870	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	16939	31626870	139488197	529	39410											
SKIV2L	6499	broad.mit.edu	37	chr6	31936512	31936512	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagaaggagatggagcggcTgcgcttcctactgtcggatc	14	10	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:31936512T>C	uc003nyn.1	+	25	3508	c.3119T>C	c.(3118-3120)CTG>CCG	p.L1040P	SKIV2L_uc011dou.1_Missense_Mutation_p.L882P|SKIV2L_uc011dov.1_Missense_Mutation_p.L847P|STK19_uc003nyt.2_5'Flank	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	1040						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						ATGGAGCGGCTGCGCTTCCTA	0.612													C	31936512	T	C	31936512	3	2	49	1	0	0	0	0	1	0	0	0	14359	1580	55	3	3217	3	SKIV2L	6	31936512	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	309642	31936512	139178555	530	39411											
GPSM3	63940	broad.mit.edu	37	chr6	32159189	32159189	+	Frame_Shift_Del	DEL	C	C	-													acctttgctcctccattcgaCccccaccctgaactctcagc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:32159189delC	uc003oay.3	-	4	830	c.437delG	c.(436-438)GGTfs	p.G146fs	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.2_5'Flank|GPSM3_uc003oax.3_Frame_Shift_Del_p.G123fs|GPSM3_uc003oaz.2_Frame_Shift_Del_p.G146fs	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3 (AGS3-like, C.	146	GoLoco 3.				signal transduction	cytoplasm	GTPase activator activity|protein binding				0						CTCCATTCGACCCCCACCCTG	0.652													-	32159189	C	-	32159189	7	5	49	1	0	1	0	1	0	0	0	0	6736	507	18	0	49	0	GPSM3	6	32159189	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	222677	32159189	138955878	531	39412											
NOTCH4	4855	broad.mit.edu	37	chr6	32166763	32166763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggggagctgactgagtcCgaggccgtcgagtgaaacca	17	9	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:32166763C>T	uc003obb.2	-	24	4614	c.4475G>A	c.(4474-4476)CGG>CAG	p.R1492Q	NOTCH4_uc011dpt.1_5'Flank|NOTCH4_uc003oba.2_Missense_Mutation_p.R155Q|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_5'Flank	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1492	Cytoplasmic (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						TGACTGAGTCCGAGGCCGTCG	0.642													T	32166763	C	T	32166763	3	4	49	1	0	0	0	0	1	0	0	0	10551	652	23	1	1564	1	NOTCH4	6	32166763	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	7574	32166763	138948304	532	39413											
BRD2	6046	broad.mit.edu	37	chr6	32942267	32942267	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagggaatgcagggttgCtggggctgggcccagaagca	20	7	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:32942267C>T	uc003ocn.3	+	3	1759	c.58C>T	c.(58-60)CTG>TTG	p.L20L	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Silent_p.L20L|BRD2_uc003ocp.3_5'UTR|BRD2_uc010juh.2_Silent_p.L20L	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	20					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TGCAGGGTTGCTGGGGCTGGG	0.527													T	32942267	C	T	32942267	2	4	49	1	0	0	0	0	0	0	0	1	1502	796	28	2		2	BRD2	6	32942267	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	775504	32942267	138172800	533	39414											
TAPBP	6892	broad.mit.edu	37	chr6	33272822	33272822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtatggcaggtgtatggtgGccagataggtgccctcctga	16	8	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:33272822G>A	uc003odx.1	-	4	983	c.812C>T	c.(811-813)GCC>GTC	p.A271V	TAPBP_uc010jus.1_Missense_Mutation_p.A289V|TAPBP_uc003ody.2_Missense_Mutation_p.A271V|TAPBP_uc003odz.2_Missense_Mutation_p.A271V|TAPBP_uc010jut.1_Missense_Mutation_p.A184V|TAPBP_uc011drc.1_Missense_Mutation_p.A271V	NM_003190	NP_003181	O15533	TPSN_HUMAN	tapasin isoform 1 precursor	271	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			ovary(1)	1						GTGTATGGTGGCCAGATAGGT	0.577													A	33272822	G	A	33272822	3	1	49	1	0	0	0	0	1	0	0	0	15549	1203	42	2	734	2	TAPBP	6	33272822	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	330555	33272822	137842245	534	39415											
ITPR3	3710	broad.mit.edu	37	chr6	33648141	33648141	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaacttcgtgaaccactgCtacgtggacacggaggtgga	14	9	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:33648141C>T	uc011drk.1	+	32	4479	c.4260C>T	c.(4258-4260)TGC>TGT	p.C1420C		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1420	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						TGAACCACTGCTACGTGGACA	0.602													T	33648141	C	T	33648141	2	4	49	1	0	0	0	0	0	0	0	1	7922	805	28	2		2	ITPR3	6	33648141	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	375319	33648141	137466926	535	39416											
ITPR3	3710	broad.mit.edu	37	chr6	33650343	33650343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgctgcagtctaccacaCgcctcctcgagtgtccgtgg	11	15	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:33650343C>T	uc011drk.1	+	34	4738	c.4519C>T	c.(4519-4521)CGC>TGC	p.R1507C		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1507	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						GTCTACCACACGCCTCCTCGA	0.662													T	33650343	C	T	33650343	3	4	49	1	0	0	0	0	1	0	0	0	7922	536	19	1	4653	1	ITPR3	6	33650343	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2202	33650343	137464724	536	39417											
C6orf1	221491	broad.mit.edu	37	chr6	34214513	34214513	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccaggtgacagcaggggAagcagatggcagggccccag	18	10	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:34214513A>G	uc003ojf.2	-	5	850	c.258T>C	c.(256-258)CTT>CTC	p.L86L	uc003oje.1_5'Flank|C6orf1_uc003ojg.2_Silent_p.L86L|C6orf1_uc003ojh.2_Silent_p.L86L|C6orf1_uc003oji.2_RNA	NM_178508	NP_848603	Q86T20	CF001_HUMAN	hypothetical protein LOC221491 precursor	86						extracellular region					0		Ovarian(999;0.0228)		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)		ACAGCAGGGGAAGCAGATGGC	0.642											OREG0017364	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	34214513	A	G	34214513	2	3	49	1	0	0	0	0	0	0	0	1	2316	233	9	3		3	C6orf1	6	34214513	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	564170	34214513	136900554	537	39418											
DNAH8	1769	broad.mit.edu	37	chr6	38994432	38994432	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaccaaggaggagatcacgTcaccccctggggtaggcgtt	14	11	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:38994432T>C	uc003ooe.1	+	90	13774	c.13174T>C	c.(13174-13176)TCA>CCA	p.S4392P		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GGAGATCACGTCACCCCCTGG	0.532													C	38994432	T	C	38994432	3	2	49	1	0	0	0	0	1	0	0	0	4607	1667	58	3	13524	3	DNAH8	6	38994432	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	4779919	38994432	132120635	538	39419											
KCNK16	83795	broad.mit.edu	37	chr6	39284590	39284590	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccccaaagccaatggtgctgAgagtgatgaaagcaaagtag	12	8	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:39284590A>T	uc003ooq.2	-	4	643	c.629T>A	c.(628-630)CTC>CAC	p.L210H	KCNK17_uc003ooo.2_5'Flank|KCNK17_uc003oop.2_5'Flank|KCNK16_uc003oor.3_Missense_Mutation_p.L210H|KCNK16_uc010jwy.2_Missense_Mutation_p.L210H|KCNK16_uc011dtz.1_Missense_Mutation_p.L210H	NM_032115	NP_115491	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	210						integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(1)	3						AATGGTGCTGAGAGTGATGAA	0.537													T	39284590	A	T	39284590	3	4	49	1	0	0	0	0	1	0	0	0	8063	304	11	5	697	5	KCNK16	6	39284590	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	290158	39284590	131830477	539	39420											
KLHDC3	116138	broad.mit.edu	37	chr6	42985279	42985279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgcgttggacaaagctGcccccggtgaagtctgccat	11	13	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:42985279G>A	uc003otl.2	+	3	346	c.177G>A	c.(175-177)CTG>CTA	p.L59L	KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Silent_p.L59L|KLHDC3_uc003otn.2_5'UTR|KLHDC3_uc003oto.2_Intron	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	59	Kelch 1.				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			upper_aerodigestive_tract(1)	1			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGACAAAGCTGCCCCCGGTGA	0.587													A	42985279	G	A	42985279	2	1	49	1	0	0	0	0	0	0	0	1	8357	1306	46	2		2	KLHDC3	6	42985279	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	3700689	42985279	128129788	540	39421											
CDC5L	988	broad.mit.edu	37	chr6	44374080	44374081	+	Frame_Shift_Ins	INS	-	-	A													gaaaaagaaggaagagatagINSaaaaaaagacaaacagcatt							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:44374080_44374081insA	uc003oxl.2	+	7	1038_1039	c.779_780insA	c.(778-780)AGAfs	p.R260fs		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	260	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAAGAGATAGAAAAAAAGACA	0.297													A	44374081	-	A	44374080	7	5	49	1	0	1	1	0	0	0	0	0	3082	942	33	0	805	0	CDC5L	6	44374080	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	1388801	44374080	126740987	541	39422	130	2									
CDC5L	988	broad.mit.edu	37	chr6	44374081	44374082	+	Frame_Shift_Ins	INS	-	-	A													aaaaagaaggaagagatagaINSaaaaaagacaaacagcattt							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:44374080_44374081G>GA	uc003oxl.3	+	6	1089_1090	c.779_780G>GA	c.(778-780)agafs	p.R260fs		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	260	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAAGAGATAGAAAAAAAGACA	0.297													A	44374082	-	A	44374081	7	5	49	1	0	1	1	0	0	0	0	0	3082	243	9	0	806	0	CDC5L	6	44374081	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	1	44374081	126740986	542	39423	130	2									
TDRD6	221400	broad.mit.edu	37	chr6	46658738	46658738	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtagaaaagagacttgcaaGaccagtaaaacttcagaagc	10	7	1	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:46658738G>T	uc003oyj.2	+	1	2873	c.2873G>T	c.(2872-2874)AGA>ATA	p.R958I	TDRD6_uc010jze.2_Missense_Mutation_p.R952I	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	958					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			AGACTTGCAAGACCAGTAAAA	0.373													T	46658738	G	T	46658738	3	4	49	1	0	0	0	0	1	0	0	0	15731	942	33	5	2875	5	TDRD6	6	46658738	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2284657	46658738	124456329	543	39424											
PKHD1	5314	broad.mit.edu	37	chr6	51777171	51777171	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacactcagtacctcaaagGtgacttaagatagaggtctg	10	8	3	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:51777171G>T	uc003pah.1	-	38	6601	c.6325C>A	c.(6325-6327)CCT>ACT	p.P2109T	PKHD1_uc010jzn.1_Missense_Mutation_p.P134T|PKHD1_uc003pai.2_Missense_Mutation_p.P2109T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2109	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TACCTCAAAGGTGACTTAAGA	0.433													T	51777171	G	T	51777171	3	4	49	1	0	0	0	0	1	0	0	0	11971	1261	44	5	6058	5	PKHD1	6	51777171	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	5118433	51777171	119337896	544	39425											
BAI3	577	broad.mit.edu	37	chr6	69653793	69653793	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcgaggccaaagaacaAgaacaaggtcatgcacacct	11	10	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:69653793A>C	uc003pev.3	+	6	1550	c.1102A>C	c.(1102-1104)AGA>CGA	p.R368R	BAI3_uc010kak.2_Silent_p.R368R	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	368	Extracellular (Potential).|TSP type-1 2.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				CCAAAGAACAAGAACAAGGTC	0.458													C	69653793	A	C	69653793	2	2	49	1	0	0	0	0	0	0	0	1	1300	64	3	5		5	BAI3	6	69653793	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	17876622	69653793	101461274	545	39426											
OGFRL1	79627	broad.mit.edu	37	chr6	72006204	72006204	+	Frame_Shift_Del	DEL	C	C	-													tttaaaataaataggcttttCcccctgagagaacaaggctt							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:72006203_72006203TC>T	uc003pfx.1	+	4	648	c.485_485TC>T	c.(484-486)ttcfs	p.F162fs		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	Homo sapiens opioid growth factor receptor-like 1 (OGFRL1), mRNA.	162						membrane	receptor activity	p.L161R(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						aataGGCTTTTCCCCCTGAGA	0.313													-	72006204	C	-	72006204	7	5	49	1	0	1	0	1	0	0	0	0	10844	854	30	0	504	0	OGFRL1	6	72006204	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	2352411	72006204	99108863	546	39427											
HTR1B	3351	broad.mit.edu	37	chr6	78172393	78172393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgccggtcctgttgggcGtctgtttcaaaatccgggag	14	10	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:78172393G>A	uc003pil.1	-	1	728	c.728C>T	c.(727-729)ACG>ATG	p.T243M		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	243	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	CCTGTTGGGCGTCTGTTTCAA	0.612													A	78172393	G	A	78172393	3	1	49	1	0	0	0	0	1	0	0	0	7437	1145	40	1	448	1	HTR1B	6	78172393	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	6166189	78172393	92942674	547	39428											
KIAA1009	22832	broad.mit.edu	37	chr6	84913717	84913717	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgtttgggcacacttatTttttctgatttggaattctc	7	8	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:84913717T>C	uc010kbp.2	-	7	766	c.669A>G	c.(667-669)AAA>AAG	p.K223K	KIAA1009_uc003pkj.3_Silent_p.K147K|KIAA1009_uc003pkk.2_Silent_p.K223K	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	223					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GCACACTTATTTTTTCTGATT	0.343													C	84913717	T	C	84913717	2	2	49	1	0	0	0	0	0	0	0	1	8203	1838	64	3		3	KIAA1009	6	84913717	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	6741324	84913717	86201350	548	39429											
TBX18	9096	broad.mit.edu	37	chr6	85453993	85453993	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcccacctgttgcgcccggaGtctcggaagcctttagcaaa	11	14	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:85453993G>C	uc003pkl.1	-	6	990	c.990C>G	c.(988-990)GAC>GAG	p.D330E	TBX18_uc010kbq.1_Missense_Mutation_p.D172E	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	330	T-box.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TGCGCCCGGAGTCTCGGAAGC	0.348													C	85453993	G	C	85453993	3	2	49	1	0	0	0	0	1	0	0	0	15650	1020	36	5	845	5	TBX18	6	85453993	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	540276	85453993	85661074	549	39430											
MDN1	23195	broad.mit.edu	37	chr6	90360519	90360519	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataaccgttgtgaaagaggCgctgttaagatcaggtaact	11	7	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:90360519C>T	uc003pnn.1	-	96	16079	c.15963G>A	c.(15961-15963)GCG>GCA	p.A5321A		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	5321					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTGAAAGAGGCGCTGTTAAGA	0.483													T	90360519	C	T	90360519	2	4	49	1	0	0	0	0	0	0	0	1	9415	755	27	1		1	MDN1	6	90360519	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	4906526	90360519	80754548	550	39431											
MDN1	23195	broad.mit.edu	37	chr6	90402711	90402711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcagaagccgtgtgagCagatcctgaacagcaggggc	15	11	0	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:90402711C>T	uc003pnn.1	-	63	10154	c.10038G>A	c.(10036-10038)CTG>CTA	p.L3346L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3346					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCCGTGTGAGCAGATCCTGAA	0.602													T	90402711	C	T	90402711	2	4	49	1	0	0	0	0	0	0	0	1	9415	697	25	2		2	MDN1	6	90402711	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	42192	90402711	80712356	551	39432											
C6orf167	253714	broad.mit.edu	37	chr6	97720928	97720928	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgctttgcagtgtagagtTgataccttccctgaaaccaa	8	10	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:97720928T>C	uc003ppb.2	-	5	617	c.351A>G	c.(349-351)TCA>TCG	p.S117S	C6orf167_uc011eaf.1_Silent_p.S117S|C6orf167_uc010kcn.1_5'UTR|C6orf167_uc010kco.1_5'UTR|C6orf167_uc003ppc.2_Silent_p.S117S	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	117					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		AGTGTAGAGTTGATACCTTCC	0.284													C	97720928	T	C	97720928	2	2	49	1	0	0	0	0	0	0	0	1	2342	1799	63	3		3	C6orf167	6	97720928	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	7318217	97720928	73394139	552	39433											
SIM1	6492	broad.mit.edu	37	chr6	100897247	100897247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctacgcaccttgtagcCgccacaggtgaggccggcgt	13	15	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:100897247C>T	uc003pqj.3	-	5	742	c.535G>A	c.(535-537)GGC>AGC	p.G179S	SIM1_uc010kcu.2_Missense_Mutation_p.G179S	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	179					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ACCTTGTAGCCGCCACAGGTG	0.617													T	100897247	C	T	100897247	3	4	49	1	0	0	0	0	1	0	0	0	14323	652	23	1	1793	1	SIM1	6	100897247	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3176319	100897247	70217820	553	39434											
OSTM1	28962	broad.mit.edu	37	chr6	108366005	108366005	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcagtttgaattttccTgaatatttgcaaaactggta	8	6	1	2	rs142270062		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:108366005T>C	uc003psd.2	-	6	1075	c.989A>G	c.(988-990)CAG>CGG	p.Q330R	OSTM1_uc003pse.1_5'Flank	NM_014028	NP_054747	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	330	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		TGAATTTTCCTGAATATTTGC	0.299													C	108366005	T	C	108366005	3	2	49	1	0	0	0	0	1	0	0	0	11298	1580	55	3	19	3	OSTM1	6	108366005	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	7468758	108366005	62749062	554	39435											
CDC40	51362	broad.mit.edu	37	chr6	110501676	110501676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgattgcagctctggccgCttcctatggttcgggttcag	13	11	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:110501676C>T	uc003pua.2	+	1	53	c.29C>T	c.(28-30)GCT>GTT	p.A10V	WASF1_uc003ptv.1_5'Flank|WASF1_uc003ptw.1_5'Flank|WASF1_uc003ptx.1_5'Flank|WASF1_uc003pty.1_5'Flank|WASF1_uc003ptz.1_5'Flank	NM_015891	NP_056975	O60508	PRP17_HUMAN	cell division cycle 40 homolog	10					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm					0		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		GCTCTGGCCGCTTCCTATGGT	0.597													T	110501676	C	T	110501676	3	4	49	1	0	0	0	0	1	0	0	0	3070	797	28	2	31	2	CDC40	6	110501676	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2135671	110501676	60613391	555	39436											
HS3ST5	222537	broad.mit.edu	37	chr6	114379310	114379310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggaattcagcctgagtgCgggctccacccagtcgacct	13	13	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:114379310C>T	uc003pwg.3	-	2	184	c.152G>A	c.(151-153)CGC>CAC	p.R51H	uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.R51H	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine)	51	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			ovary(1)|pancreas(1)	2		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		AGCCTGAGTGCGGGCTCCACC	0.537													T	114379310	C	T	114379310	3	4	49	1	0	0	0	0	1	0	0	0	7368	768	27	1	892	1	HS3ST5	6	114379310	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3877634	114379310	56735757	556	39437											
GPRC6A	222545	broad.mit.edu	37	chr6	117113344	117113344	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcgaggcaaagttttagaTacacttgtggcattttccct	8	8	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:117113344T>C	uc003pxj.1	-	6	2764	c.2742A>G	c.(2740-2742)GTA>GTG	p.V914V	GPRC6A_uc003pxk.1_Silent_p.V739V|GPRC6A_uc003pxl.1_Silent_p.V843V	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	914	Cytoplasmic (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AAGTTTTAGATACACTTGTGG	0.418													C	117113344	T	C	117113344	2	2	49	1	0	0	0	0	0	0	0	1	6728	1393	49	3		3	GPRC6A	6	117113344	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	2734034	117113344	54001723	557	39438											
C6orf170	221322	broad.mit.edu	37	chr6	121560337	121560337	+	Splice_Site	DEL	A	A	-													taagttcattaataaaccctAaaaagaattattacttcaag							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:121560336_121560336TA>T	uc003pyo.1	-	20	2314	c.2246_splice	c.e20-1	p.G749_splice	C6orf170_uc003pyq.1_Splice_Site|C6orf170_uc010kej.1_5'Flank|C6orf170_uc003pyp.1_Splice_Site_p.G268_splice	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	749					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		TAATAAACCCTAAAAAGAATT	0.343													-	121560337	A	-	121560337	8	5	49	1	0	1	0	1	0	0	1	0	2344	377	13	0		0	C6orf170	6	121560337	Splice_Site	DEL	A	TCGA-BR-7707-01A-11D-2053-08	4446993	121560337	49554730	558	39439											
C6orf174	387104	broad.mit.edu	37	chr6	127796642	127796642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgttggccacgtagatgcgCgcctcggtgatgatggtgct	15	11	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:127796642C>T	uc003qbd.2	-	6	3394	c.2529G>A	c.(2527-2529)GCG>GCA	p.A843A	C6orf174_uc003qbc.2_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	843						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		CGTAGATGCGCGCCTCGGTGA	0.657													T	127796642	C	T	127796642	2	4	49	1	0	0	0	0	0	0	0	1	2345	755	27	1		1	C6orf174	6	127796642	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	6236305	127796642	43318425	559	39440											
C6orf58	352999	broad.mit.edu	37	chr6	127899903	127899903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatatgtgcatctctgtggAcagttggtgggctggtatgt	14	6	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:127899903A>G	uc003qbh.2	+	2	386	c.374A>G	c.(373-375)GAC>GGC	p.D125G		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	hypothetical protein LOC352999 precursor	125						extracellular region					0				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		ATCTCTGTGGACAGTTGGTGG	0.438													G	127899903	A	G	127899903	3	3	49	1	0	0	0	0	1	0	0	0	2367	275	10	3	380	3	C6orf58	6	127899903	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	103261	127899903	43215164	560	39441											
ENPP3	5169	broad.mit.edu	37	chr6	132014640	132014640	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttacttgcttttcagtgcCgaaaacctgatcagcatttc	6	10	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:132014640C>T	uc003qcu.3	+	16	1635	c.1288C>T	c.(1288-1290)CGA>TGA	p.R430*	ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Nonsense_Mutation_p.R430*	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	430	Extracellular (Potential).|Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TTTTCAGTGCCGAAAACCTGA	0.338													T	132014640	C	T	132014640	4	4	49	1	0	0	0	0	0	1	0	0	5131	644	23	1	1346	1	ENPP3	6	132014640	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	4114737	132014640	39100427	561	39442											
MOXD1	26002	broad.mit.edu	37	chr6	132722507	132722507	+	Frame_Shift_Del	DEL	C	C	-													gcggataggttcggcccgagCcccccgccgccgtcccgggg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:132722507delC	uc003qdf.2	-	1	158	c.59delG	c.(58-60)GGCfs	p.G20fs		NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	20	Lumenal (Potential).				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TCGGCCCGAGCCCCCCGCCGC	0.746													-	132722507	C	-	132722507	7	5	49	1	0	1	0	1	0	0	0	0	9720	739	26	0	1830	0	MOXD1	6	132722507	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	707867	132722507	38392560	562	39443											
SLC2A12	154091	broad.mit.edu	37	chr6	134350539	134350539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagagagggagatggagaCccctatggcaatgcgtccca	15	9	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:134350539C>T	uc003qem.1	-	2	595	c.424G>A	c.(424-426)GTC>ATC	p.V142I		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose	142	Helical; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			ovary(1)	1	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GAGATGGAGACCCCTATGGCA	0.478													T	134350539	C	T	134350539	3	4	49	1	0	0	0	0	1	0	0	0	14541	507	18	4	1445	4	SLC2A12	6	134350539	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1628032	134350539	36764528	563	39444											
MYB	4602	broad.mit.edu	37	chr6	135515019	135515019	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtagcgttacatgtaaataTagtcaatgtccctcagccag	8	9	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:135515019T>C	uc003qfc.2	+	7	1005	c.806T>C	c.(805-807)ATA>ACA	p.I269T	MYB_uc003qfh.2_Missense_Mutation_p.I269T|MYB_uc003qfi.2_Missense_Mutation_p.I269T|MYB_uc010kgi.2_Missense_Mutation_p.I269T|MYB_uc003qfq.2_Missense_Mutation_p.I269T|MYB_uc010kgj.2_Missense_Mutation_p.I269T|MYB_uc003qfo.2_Missense_Mutation_p.I269T|MYB_uc003qfu.2_Missense_Mutation_p.I269T|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_5'UTR|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Missense_Mutation_p.I81T|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.I269T|MYB_uc003qgd.1_Missense_Mutation_p.I81T|MYB_uc003qge.1_5'Flank	NM_005375	NP_005366	P10242	MYB_HUMAN	v-myb myeloblastosis viral oncogene homolog	269					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			lung(1)	1	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CATGTAAATATAGTCAATGTC	0.428			T	NFIB	adenoid cystic carcinoma								C	135515019	T	C	135515019	3	2	49	1	0	0	0	0	1	0	0	0	10007	1406	49	3	832	3	MYB	6	135515019	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1164480	135515019	35600048	564	39445											
MAP3K5	4217	broad.mit.edu	37	chr6	136901470	136901470	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtaatggctgtctgtacCgccttccgaatgatactgtc	10	10	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:136901470C>T	uc003qhc.2	-	25	3847	c.3486G>A	c.(3484-3486)GCG>GCA	p.A1162A	MAP3K5_uc011edj.1_Silent_p.A409A|MAP3K5_uc011edk.1_Silent_p.A1008A	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	1162					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)|skin(2)|lung(1)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CTGTCTGTACCGCCTTCCGAA	0.403													T	136901470	C	T	136901470	2	4	49	1	0	0	0	0	0	0	0	1	9253	639	23	1		1	MAP3K5	6	136901470	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1386451	136901470	34213597	565	39446											
IL20RA	53832	broad.mit.edu	37	chr6	137325789	137325789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtttctctttgccaacgTggatatatcggtagatggaa	12	6	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:137325789T>C	uc003qhj.2	-	6	1266	c.833A>G	c.(832-834)CAC>CGC	p.H278R	IL20RA_uc011edl.1_Missense_Mutation_p.H229R|IL20RA_uc003qhk.2_Missense_Mutation_p.H167R|IL20RA_uc003qhi.2_Missense_Mutation_p.H10R	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha precursor	278	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(2)|skin(2)	4	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TTTGCCAACGTGGATATATCG	0.423													C	137325789	T	C	137325789	3	2	49	1	0	0	0	0	1	0	0	0	7668	1696	59	3	836	3	IL20RA	6	137325789	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	424319	137325789	33789278	566	39447											
NMBR	4829	broad.mit.edu	37	chr6	142409703	142409703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggtcccgtccgaggcCggcaggaaatccctttccca	13	14	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:142409703C>T	uc003qiu.2	-	1	234	c.93G>A	c.(91-93)CCG>CCA	p.P31P		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	31	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CGTCCGAGGCCGGCAGGAAAT	0.607													T	142409703	C	T	142409703	2	4	49	1	0	0	0	0	0	0	0	1	10487	639	23	1		1	NMBR	6	142409703	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	5083914	142409703	28705364	567	39448											
GPR126	57211	broad.mit.edu	37	chr6	142688974	142688974	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctatcatttaactcaagtgcGaatgagatgcatgtgtcctt	8	8	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:142688974G>A	uc010khc.2	+	3	783	c.372G>A	c.(370-372)GCG>GCA	p.A124A	GPR126_uc010khd.2_Silent_p.A124A|GPR126_uc010khe.2_Silent_p.A124A|GPR126_uc010khf.2_Silent_p.A124A|GPR126_uc003qix.2_Silent_p.A124A	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	124	CUB.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		ACTCAAGTGCGAATGAGATGC	0.423													A	142688974	G	A	142688974	2	1	49	1	0	0	0	0	0	0	0	1	6640	1045	37	1		1	GPR126	6	142688974	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	279271	142688974	28426093	568	39449											
HIVEP2	3097	broad.mit.edu	37	chr6	143091478	143091478	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcctccacaatctgtccGtacatcttttcttctttgac	4	14	4	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:143091478G>A	uc003qjd.2	-	5	5141	c.4398C>T	c.(4396-4398)TAC>TAT	p.Y1466Y		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CAATCTGTCCGTACATCTTTT	0.522													A	143091478	G	A	143091478	2	1	49	1	0	0	0	0	0	0	0	1	7187	1140	40	1		1	HIVEP2	6	143091478	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	402504	143091478	28023589	569	39450											
ADAT2	134637	broad.mit.edu	37	chr6	143755071	143755071	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgccactttgacgacaCcaatcgaggacctgatcgat	8	13	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:143755071C>G	uc003qjj.2	-	3	295	c.249G>C	c.(247-249)TGG>TGC	p.W83C	ADAT2_uc003qjk.1_RNA	NM_182503	NP_872309	Q7Z6V5	ADAT2_HUMAN	deaminase domain containing 1	83					tRNA processing		hydrolase activity|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		TTTGACGACACCAATCGAGGA	0.493													G	143755071	C	G	143755071	3	3	49	1	0	0	0	0	1	0	0	0	285	508	18	5	342	5	ADAT2	6	143755071	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	663593	143755071	27359996	570	39451											
PHACTR2	9749	broad.mit.edu	37	chr6	144086414	144086415	+	Frame_Shift_Ins	INS	-	-	A													tagctggctcctctcattcaINSaaaaaaacaactggctctaa							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:144086413_144086414C>CA	uc010khi.3	+	5	909_910	c.710_711C>CA	c.(709-711)tcafs	p.S237fs	PHACTR2_uc003qjq.4_Frame_Shift_Ins_p.S226fs|PHACTR2_uc010khh.3_Frame_Shift_Ins_p.S146fs|PHACTR2_uc003qjr.4_Frame_Shift_Ins_p.S157fs	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	226							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TCCTCTCATTCAAAAAAAACAA	0.396													A	144086415	-	A	144086414	7	5	49	1	0	1	1	0	0	0	0	0	11810	117	5	0	750	0	PHACTR2	6	144086414	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	331343	144086414	27028653	571	39452											
SHPRH	257218	broad.mit.edu	37	chr6	146262928	146262928	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttaattctgaacgcagtAcatcataggtaatgataact	6	6	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:146262928A>G	uc003qlf.2	-	10	2720	c.2321T>C	c.(2320-2322)GTA>GCA	p.V774A	SHPRH_uc003qld.2_Missense_Mutation_p.V774A|SHPRH_uc003qle.2_Missense_Mutation_p.V774A|SHPRH_uc003qlg.1_Missense_Mutation_p.V330A|SHPRH_uc003qlj.1_Missense_Mutation_p.V663A	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	774	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGAACGCAGTACATCATAGGT	0.413													G	146262928	A	G	146262928	3	3	49	1	0	0	0	0	1	0	0	0	14291	391	14	3	2858	3	SHPRH	6	146262928	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	2176514	146262928	24852139	572	39453											
GRM1	2911	broad.mit.edu	37	chr6	146755562	146755562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacccgcccccgccacctcCgcagcacctgcagatgctgc	9	21	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:146755562C>T	uc010khw.1	+	9	3685	c.3215C>T	c.(3214-3216)CCG>CTG	p.P1072L	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1072	Gln/Pro-rich.|Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCGCCACCTCCGCAGCACCTG	0.682													T	146755562	C	T	146755562	3	4	49	1	0	0	0	0	1	0	0	0	6796	652	23	1	3310	1	GRM1	6	146755562	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	492634	146755562	24359505	573	39454											
UST	10090	broad.mit.edu	37	chr6	149285605	149285605	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaccccgtcaaccggttctTatccaactattttttccgtc	5	14	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:149285605T>C	uc003qmg.2	+	5	883	c.587T>C	c.(586-588)TTA>TCA	p.L196S	uc003qmh.1_Intron	NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	196	Lumenal (Potential).				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		AACCGGTTCTTATCCAACTAT	0.498													C	149285605	T	C	149285605	3	2	49	1	0	0	0	0	1	0	0	0	17090	1764	61	3	605	3	UST	6	149285605	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	2530043	149285605	21829462	574	39455											
C6orf97	80129	broad.mit.edu	37	chr6	151857473	151857473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacttacgatcatctttcGgaagtcccggtcacgcggga	11	11	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:151857473G>A	uc003qol.2	+	2	167	c.78G>A	c.(76-78)TCG>TCA	p.S26S		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	26											0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		ATCATCTTTCGGAAGTCCCGG	0.433													A	151857473	G	A	151857473	2	1	49	1	0	0	0	0	0	0	0	1	2374	1103	39	1		1	C6orf97	6	151857473	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2571868	151857473	19257594	575	39456											
SYNE1	23345	broad.mit.edu	37	chr6	152583314	152583314	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactcctgggataacacatcAggtttttcgctattagaaga	8	8	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:152583314A>G	uc010kiw.2	-	101	19427	c.18825T>C	c.(18823-18825)CCT>CCC	p.P6275P	SYNE1_uc010kiv.2_Silent_p.P799P|SYNE1_uc003qos.3_Silent_p.P799P|SYNE1_uc003qot.3_Silent_p.P6204P|SYNE1_uc003qou.3_Silent_p.P6275P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6275	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)		ATAACACATCAGGTTTTTCGC	0.393										HNSCC(10;0.0054)			G	152583314	A	G	152583314	2	3	49	1	0	0	0	0	0	0	0	1	15442	175	7	3		3	SYNE1	6	152583314	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	725841	152583314	18531753	576	39457											
TFB1M	51106	broad.mit.edu	37	chr6	155579107	155579107	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtatacatcacagaggcTcttaaagtgtgagatggaga	11	6	3	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:155579107T>G	uc003qqj.3	-	7	968	c.904A>C	c.(904-906)AGC>CGC	p.S302R	TFB1M_uc003qqk.2_Intron|uc003qqi.1_5'Flank	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			skin(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		TCACAGAGGCTCTTAAAGTGT	0.468													G	155579107	T	G	155579107	3	3	49	1	0	0	0	0	1	0	0	0	15790	1551	54	5	140	5	TFB1M	6	155579107	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	2995793	155579107	15535960	577	39458											
SLC22A2	6582	broad.mit.edu	37	chr6	160670319	160670319	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctccagtgaggaagtgcGtaagccaccccagctagcac	10	15	0	1	rs147817271	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:160670319G>A	uc003qtf.2	-	4	941	c.771C>T	c.(769-771)TAC>TAT	p.Y257Y	SLC22A2_uc003qte.1_Silent_p.Y257Y|SLC22A2_uc003qth.1_3'UTR	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	257	Helical; (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)|skin(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GAGGAAGTGCGTAAGCCACCC	0.458													A	160670319	G	A	160670319	2	1	49	1	0	0	0	0	0	0	0	1	14450	1140	40	1		1	SLC22A2	6	160670319	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	5091212	160670319	10444748	578	39459											
LPA	4018	broad.mit.edu	37	chr6	161006078	161006078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctaacatgatagacatacGcatttggatagtataatggg	11	5	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:161006078G>A	uc003qtl.2	-	27	4409	c.4289C>T	c.(4288-4290)GCT>GTT	p.A1430V		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3938	Kringle 35.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAGACATACGCATTTGGATA	0.433													A	161006078	G	A	161006078	3	1	49	1	0	0	0	0	1	0	0	0	8903	1101	38	1	1889	1	LPA	6	161006078	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	335759	161006078	10108989	579	39460											
PDE10A	10846	broad.mit.edu	37	chr6	165846524	165846524	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atacagctcgagaataccaaTcaagtcaccaattgcagtga	7	10	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:165846524T>A	uc003qun.2	-	8	842	c.601A>T	c.(601-603)ATT>TTT	p.I201F	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.I131F|PDE10A_uc003quo.2_Missense_Mutation_p.I211F	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	201	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AGAATACCAATCAAGTCACCA	0.438													A	165846524	T	A	165846524	3	1	49	1	0	0	0	0	1	0	0	0	11630	1435	50	5	1802	5	PDE10A	6	165846524	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	4840446	165846524	5268543	580	39461											
THBS2	7058	broad.mit.edu	37	chr6	169637338	169637338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgccccccatctggggCactggggagttgcagagacg	14	12	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:169637338C>T	uc003qwt.2	-	10	1652	c.1404G>A	c.(1402-1404)GTG>GTA	p.V468V		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	468	TSP type-1 2.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCATCTGGGGCACTGGGGAGT	0.627													T	169637338	C	T	169637338	2	4	49	1	0	0	0	0	0	0	0	1	15851	697	25	2		2	THBS2	6	169637338	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3790814	169637338	1477729	581	39462											
PDGFA	5154	broad.mit.edu	37	chr7	550457	550457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggctcaccttgacgctgcGgtggtggacgcgggagggct	19	10	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:550457G>A	uc003sir.2	-	4	1285	c.442C>T	c.(442-444)CGC>TGC	p.R148C	PDGFA_uc003sis.2_Missense_Mutation_p.R148C|PDGFA_uc003sit.1_Missense_Mutation_p.R162C	NM_002607	NP_002598	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha isoform 1	148					actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity				0		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		TTGACGCTGCGGTGGTGGACG	0.383													A	550457	G	A	550457	3	1	49	1	0	0	0	0	1	0	0	0	11657	1116	39	1	220	1	PDGFA	7	550457	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08		550457	158588206	582	39463											
HEATR2	54919	broad.mit.edu	37	chr7	819634	819634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccaacgatgtgaggatgGcagccgcctccaccttggtc	12	13	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:819634G>A	uc010krz.1	+	12	2304	c.2284G>A	c.(2284-2286)GCA>ACA	p.A762T	HEATR2_uc003siz.2_Missense_Mutation_p.A630T|HEATR2_uc003sjb.2_Missense_Mutation_p.A142T|HEATR2_uc003sjc.2_Missense_Mutation_p.A187T	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	762	HEAT 9.						protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TGTGAGGATGGCAGCCGCCTC	0.527													A	819634	G	A	819634	3	1	49	1	0	0	0	0	1	0	0	0	7028	1203	42	2	2330	2	HEATR2	7	819634	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	269177	819634	158319029	583	39464											
PSMG3	84262	broad.mit.edu	37	chr7	1607366	1607366	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacacccggatcacctcccTcagcgccttcagcccctcca	6	22	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:1607366T>C	uc003skx.2	-	2	991	c.337A>G	c.(337-339)AGG>GGG	p.R113G	PSMG3_uc011jvx.1_Missense_Mutation_p.R113G|KIAA1908_uc003sla.2_5'Flank|KIAA1908_uc003sky.1_5'Flank|KIAA1908_uc003skz.1_5'Flank	NM_032302	NP_115678	Q9BT73	PSMG3_HUMAN	proteasome assembling chaperone 3	113											0		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		ATCACCTCCCTCAGCGCCTTC	0.612													C	1607366	T	C	1607366	3	2	49	1	0	0	0	0	1	0	0	0	12713	1550	54	3	35	3	PSMG3	7	1607366	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	787732	1607366	157531297	584	39465											
SNX8	29886	broad.mit.edu	37	chr7	2309235	2309235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagttcaggaattcgtcccCgacgcactgtgctgactcct	9	14	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:2309235C>T	uc003slw.2	-	5	623	c.580G>A	c.(580-582)GGG>AGG	p.G194R		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	194					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		AATTCGTCCCCGACGCACTGT	0.368													T	2309235	C	T	2309235	3	4	49	1	0	0	0	0	1	0	0	0	14908	652	23	1	845	1	SNX8	7	2309235	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	701869	2309235	156829428	585	39466											
AMZ1	155185	broad.mit.edu	37	chr7	2752320	2752320	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtggacagagccgtggaCgccctcgaccgctgggagat	16	12	0	2	rs144828698		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:2752320C>T	uc003smr.1	+	7	1666	c.1305C>T	c.(1303-1305)GAC>GAT	p.D435D	AMZ1_uc003sms.1_3'UTR|AMZ1_uc011jwa.1_Silent_p.D184D	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	435							metallopeptidase activity|zinc ion binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GAGCCGTGGACGCCCTCGACC	0.687													T	2752320	C	T	2752320	2	4	49	1	0	0	0	0	0	0	0	1	596	535	19	1		1	AMZ1	7	2752320	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	443085	2752320	156386343	586	39467											
CARD11	84433	broad.mit.edu	37	chr7	2976789	2976789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttcttctcctccagctcgCggatctgcttcctgtacttg	8	15	3	0	rs79513324	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:2976789C>T	uc003smv.2	-	9	1627	c.1223G>A	c.(1222-1224)CGC>CAC	p.R408H		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	408	Potential.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTCCAGCTCGCGGATCTGCTT	0.592			Mis		DLBCL								T	2976789	C	T	2976789	3	4	49	1	0	0	0	0	1	0	0	0	2645	768	27	1	2309	1	CARD11	7	2976789	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	224469	2976789	156161874	587	39468											
ACTB	60	broad.mit.edu	37	chr7	5568128	5568128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtgaagctgtagccgcGctcggtgaggatcttcatga	16	8	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:5568128G>A	uc003sos.3	-	3	622	c.586C>T	c.(586-588)CGC>TGC	p.R196C	ACTB_uc003sor.3_Missense_Mutation_p.R74C|ACTB_uc003sot.3_Missense_Mutation_p.R196C|ACTB_uc003soq.3_Missense_Mutation_p.R74C|ACTB_uc010ksy.2_Missense_Mutation_p.R74C	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	196					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CTGTAGCCGCGCTCGGTGAGG	0.612													A	5568128	G	A	5568128	3	1	49	1	0	0	0	0	1	0	0	0	193	1087	38	1	553	1	ACTB	7	5568128	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2591339	5568128	153570535	588	39469											
EIF2AK1	27102	broad.mit.edu	37	chr7	6066563	6066563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggctgaaagagctctagCaggaccacacccaagctgta	10	12	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:6066563C>T	uc003spp.2	-	14	1706	c.1560G>A	c.(1558-1560)CTG>CTA	p.L520L	EIF2AK1_uc003spq.2_Silent_p.L519L|EIF2AK1_uc011jwm.1_Silent_p.L396L	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha	520	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		AGAGCTCTAGCAGGACCACAC	0.443													T	6066563	C	T	6066563	2	4	49	1	0	0	0	0	0	0	0	1	4996	697	25	2		2	EIF2AK1	7	6066563	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	498435	6066563	153072100	589	39470											
DAGLB	221955	broad.mit.edu	37	chr7	6449932	6449932	+	Frame_Shift_Del	DEL	C	C	-													gtgtcaggacttcctggtcgCccccgtccagctccgtgggc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:6449931_6449931GC>G	uc003sqa.3	-	13	1820	c.1650_1650GC>C	c.(1648-1650)ggcfs	p.G550fs	DAGLB_uc003spy.3_Frame_Shift_Del_p.G96fs|DAGLB_uc003spz.3_Frame_Shift_Del_p.G247fs|DAGLB_uc011jwt.2_Frame_Shift_Del_p.G364fs|DAGLB_uc011jwu.2_Frame_Shift_Del_p.G421fs|DAGLB_uc003sqb.3_Frame_Shift_Del_p.G269fs|DAGLB_uc003sqc.3_Frame_Shift_Del_p.G269fs|DAGLB_uc011jwv.2_Non-coding_Transcript|DAGLB_uc003sqd.4_Frame_Shift_Del_p.G509fs	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.	550					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CTTCCTGGTCGCCCCCGTCCA	0.597													-	6449932	C	-	6449932	7	5	49	1	0	1	0	1	0	0	0	0	4227	739	26	0	377	0	DAGLB	7	6449932	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	383369	6449932	152688731	590	39471											
C7orf26	79034	broad.mit.edu	37	chr7	6639539	6639540	+	Frame_Shift_Ins	INS	-	-	T													caaggttgattctcatcactINStttttaaatactccgattgc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:6639538_6639539C>CT	uc003sqo.1	+	3	659_660	c.659_660C>CT	c.(658-660)actfs	p.T220fs	C7orf26_uc003sqp.1_Intron	NM_024067	NP_076972	Q96N11	CG026_HUMAN	Homo sapiens chromosome 7 open reading frame 26 (C7orf26), mRNA.	220										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		ATTCTCATCACTTTTTTAAATA	0.47													T	6639540	-	T	6639539	7	5	49	1	0	1	1	0	0	0	0	0	2381	1596	56	0	674	0	C7orf26	7	6639539	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	189607	6639539	152499124	591	39472											
C7orf26	79034	broad.mit.edu	37	chr7	6647637	6647637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgcagcagtcgcctcacGccgcgctccccccggggttc	12	20	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:6647637G>A	uc003sqo.1	+	6	1195	c.1195G>A	c.(1195-1197)GCC>ACC	p.A399T	C7orf26_uc003sqp.1_Missense_Mutation_p.A302T|C7orf26_uc003sqq.1_Missense_Mutation_p.A200T	NM_024067	NP_076972	Q96N11	CG026_HUMAN	hypothetical protein LOC79034	399										ovary(1)	1		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GTCGCCTCACGCCGCGCTCCC	0.741													A	6647637	G	A	6647637	3	1	49	1	0	0	0	0	1	0	0	0	2381	1087	38	1	1217	1	C7orf26	7	6647637	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	8098	6647637	152491026	592	39473											
TSPAN13	27075	broad.mit.edu	37	chr7	16815913	16815913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagtctccgagtggtcggCgtggtcattgcagtgggcat	15	10	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:16815913C>T	uc003stq.2	+	2	383	c.141C>T	c.(139-141)GGC>GGT	p.G47G		NM_014399	NP_055214	O95857	TSN13_HUMAN	tetraspan NET-6	47	Helical; (Potential).					integral to plasma membrane|membrane fraction				ovary(1)	1	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		GAGTGGTCGGCGTGGTCATTG	0.488													T	16815913	C	T	16815913	2	4	49	1	0	0	0	0	0	0	0	1	16634	755	27	1		1	TSPAN13	7	16815913	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	10168276	16815913	142322750	593	39474											
TMEM196	256130	broad.mit.edu	37	chr7	19765226	19765226	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actggctagtcgacaagtgaGccaggaagagagagtgcagc	15	8	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:19765226G>T	uc011jyg.1	-	3	455	c.370C>A	c.(370-372)CTC>ATC	p.L124I	TMEM196_uc003sur.2_RNA	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN	transmembrane protein 196	130						integral to membrane					0						CGACAAGTGAGCCAGGAAGAG	0.517													T	19765226	G	T	19765226	3	4	49	1	0	0	0	0	1	0	0	0	16115	971	34	5	156	5	TMEM196	7	19765226	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2949313	19765226	139373437	594	39475											
KLHL7	55975	broad.mit.edu	37	chr7	23205486	23205486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtattcgaaactgggtcctcCgacacctcgagacagccttg	10	13	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:23205486C>T	uc003svs.3	+	8	1399	c.1106C>T	c.(1105-1107)CCG>CTG	p.P369L	KLHL7_uc003svr.3_Missense_Mutation_p.P347L|KLHL7_uc011jys.1_Missense_Mutation_p.P293L|KLHL7_uc011jyt.1_Missense_Mutation_p.P144L|KLHL7_uc003svt.2_Missense_Mutation_p.P321L|KLHL7_uc011jyv.1_Missense_Mutation_p.P144L	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN	kelch-like 7 isoform 1	369	Kelch 2.					Golgi apparatus|nucleolus|plasma membrane					0						CTGGGTCCTCCGACACCTCGA	0.433													T	23205486	C	T	23205486	3	4	49	1	0	0	0	0	1	0	0	0	8394	652	23	1	1199	1	KLHL7	7	23205486	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3440260	23205486	135933177	595	39476											
C7orf31	136895	broad.mit.edu	37	chr7	25194759	25194759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtggggaacatggcgccgcGacagatgtgtgtgtggtagg	20	6	0	1	rs145873141	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:25194759G>A	uc003sxn.1	-	6	1027	c.466C>T	c.(466-468)CGC>TGC	p.R156C	C7orf31_uc003sxm.1_5'UTR	NM_138811	NP_620166	Q8N865	CG031_HUMAN	hypothetical protein LOC136895	156											0						ATGGCGCCGCGACAGATGTGT	0.507													A	25194759	G	A	25194759	3	1	49	1	0	0	0	0	1	0	0	0	2387	1058	37	1	1326	1	C7orf31	7	25194759	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1989273	25194759	133943904	596	39477											
FAM188B	84182	broad.mit.edu	37	chr7	30821830	30821830	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaaacaagcaaagccaggTatcttttcccattattatgt	6	9	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:30821830T>C	uc003tbt.2	+	3	496	c.419_splice	c.e3+2	p.R140_splice	FAM188B_uc010kwe.2_Splice_Site_p.R111_splice	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	hypothetical protein LOC84182												0						CAAAGCCAGGTATCTTTTCCC	0.234													C	30821830	T	C	30821830	5	2	49	1	0	0	0	0	0	0	1	0	5515	1652	57	3	431	3	FAM188B	7	30821830	Splice_Site	SNP	T	TCGA-BR-7707-01A-11D-2053-08	5627071	30821830	128316833	597	39478											
CCDC129	223075	broad.mit.edu	37	chr7	31617485	31617485	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgttgtgcaggtcgtttcCgacagctggaaatcctggac	13	9	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:31617485C>T	uc003tcj.1	+	8	1600	c.607C>T	c.(607-609)CGA>TGA	p.R203*	CCDC129_uc011kad.1_Nonsense_Mutation_p.R213*|CCDC129_uc003tci.1_Nonsense_Mutation_p.R202*|CCDC129_uc011kae.1_Nonsense_Mutation_p.R229*|CCDC129_uc003tck.1_Nonsense_Mutation_p.R111*	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	203											0						AGGTCGTTTCCGACAGCTGGA	0.458													T	31617485	C	T	31617485	4	4	49	1	0	0	0	0	0	1	0	0	2764	644	23	1	633	1	CCDC129	7	31617485	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	795655	31617485	127521178	598	39479											
FKBP9	11328	broad.mit.edu	37	chr7	33014804	33014805	+	Frame_Shift_Ins	INS	-	-	C													aatttctagctggtgtgatcINSccccccaattcagtgcttca							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:33014803_33014804T>TC	uc011kal.2	+	3	717_718	c.536_537T>TC	c.(535-537)atcfs	p.I179fs	AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Non-coding_Transcript|FKBP9_uc003tdh.3_Frame_Shift_Ins_p.I126fs|FKBP9_uc010kwm.3_Frame_Shift_Ins_p.I33fs	NM_007270	NP_009201	O95302	FKBP9_HUMAN	Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA.	126	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446													C	33014805	-	C	33014804	7	5	49	1	0	1	1	0	0	0	0	0	5915	845	30	0	388	0	FKBP9	7	33014804	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	1397319	33014804	126123859	599	39480											
KIAA0895	23366	broad.mit.edu	37	chr7	36423468	36423468	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcccttcagccaaataacCtgaggtagagaacttgagtt	10	9	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:36423468C>A	uc003tfd.2	-	2	229	c.178G>T	c.(178-180)GAA>TAA	p.E60*		NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN	hypothetical protein LOC23366 isoform 1	60											0						GCCAAATAACCTGAGGTAGAG	0.259													A	36423468	C	A	36423468	4	1	49	1	0	0	0	0	0	1	0	0	8197	695	24	5	1437	5	KIAA0895	7	36423468	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3408664	36423468	122715195	600	39481											
SFRP4	6424	broad.mit.edu	37	chr7	37951805	37951805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagaatttgtaatgagcGggacttgagttcgagggatg	15	3	0	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:37951805G>A	uc003tfo.3	-	4	1093	c.707C>T	c.(706-708)CCG>CTG	p.P236L		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	236	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(1)	1						TGTAATGAGCGGGACTTGAGT	0.493													A	37951805	G	A	37951805	3	1	49	1	0	0	0	0	1	0	0	0	14163	1116	39	1	345	1	SFRP4	7	37951805	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1528337	37951805	121186858	601	39482											
GLI3	2737	broad.mit.edu	37	chr7	42012169	42012169	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttcacatgtttccggaGggagcttgggtctgtgtaac	13	8	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:42012169G>T	uc011kbh.1	-	13	1961	c.1870C>A	c.(1870-1872)CTC>ATC	p.L624I	GLI3_uc011kbg.1_Missense_Mutation_p.L565I	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	624	C2H2-type 5.				negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						TGTTTCCGGAGGGAGCTTGGG	0.537									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42012169	G	T	42012169	3	4	49	1	0	0	0	0	1	0	0	0	6439	1000	35	5	2884	5	GLI3	7	42012169	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4060364	42012169	117126494	602	39483											
GLI3	2737	broad.mit.edu	37	chr7	42063102	42063102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggtgtcgaactccctcgCgcagccttcccagtggcagt	12	14	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:42063102C>T	uc011kbh.1	-	10	1553	c.1462G>A	c.(1462-1464)GCG>ACG	p.A488T	GLI3_uc011kbg.1_Missense_Mutation_p.A429T	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	488	C2H2-type 1.				negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						AACTCCCTCGCGCAGCCTTCC	0.532									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42063102	C	T	42063102	3	4	49	1	0	0	0	0	1	0	0	0	6439	768	27	1	3304	1	GLI3	7	42063102	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	50933	42063102	117075561	603	39484											
IGFBP1	3484	broad.mit.edu	37	chr7	45928343	45928343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgctccgtggcagtgcgCgccctgctccgccgagaagc	15	17	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:45928343C>T	uc003tnp.2	+	1	385	c.92C>T	c.(91-93)GCG>GTG	p.A31V	IGFBP1_uc003tno.3_Missense_Mutation_p.A31V|IGFBP1_uc010kyn.2_Missense_Mutation_p.A31V	NM_000596	NP_000587	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	31	IGFBP N-terminal.					extracellular space	insulin-like growth factor binding			lung(1)	1						TGGCAGTGCGCGCCCTGCTCC	0.721													T	45928343	C	T	45928343	3	4	49	1	0	0	0	0	1	0	0	0	7578	768	27	1	94	1	IGFBP1	7	45928343	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3865241	45928343	113210320	604	39485											
TNS3	64759	broad.mit.edu	37	chr7	47385927	47385927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcagcttcctgagtctcCcgcccaggggctgttcagca	12	15	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:47385927C>T	uc003tnv.2	-	18	2676	c.2309G>A	c.(2308-2310)GGG>GAG	p.G770E	TNS3_uc003tnw.2_Missense_Mutation_p.G770E	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	770						focal adhesion	protein binding			ovary(4)	4						CCTGAGTCTCCCGCCCAGGGG	0.602													T	47385927	C	T	47385927	3	4	49	1	0	0	0	0	1	0	0	0	16341	623	22	4	2084	4	TNS3	7	47385927	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1457584	47385927	111752736	605	39486											
DDC	1644	broad.mit.edu	37	chr7	50531075	50531075	+	Frame_Shift_Del	DEL	T	T	-													gtgacatggaaccaagtggaTttttttggcactgtttattc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:50531074_50531074AT>A	uc003tpg.4	-	13	1499	c.1298_1298AT>T	c.(1297-1299)atcfs	p.I433fs	DDC_uc022ade.1_Frame_Shift_Del_p.I355fs|DDC_uc003tpf.4_Frame_Shift_Del_p.I433fs|DDC_uc022adb.1_Frame_Shift_Del_p.I395fs|DDC_uc022adc.1_Frame_Shift_Del_p.I385fs|DDC_uc022add.1_Frame_Shift_Del_p.I340fs	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	433					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	AACCAAGTGGATTTTTTTGGC	0.507													-	50531075	T	-	50531075	7	5	49	1	0	1	0	1	0	0	0	0	4325	1493	52	0	149	0	DDC	7	50531075	Frame_Shift_Del	DEL	T	TCGA-BR-7707-01A-11D-2053-08	3145148	50531075	108607588	606	39487											
DDC	1644	broad.mit.edu	37	chr7	50607613	50607613	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcatccggaccctcacCcaggagaagccgatgcagcc	12	15	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:50607613C>A	uc003tpf.3	-	3	401	c.315G>T	c.(313-315)TGG>TGT	p.W105C	DDC_uc010kza.2_Missense_Mutation_p.W105C|DDC_uc003tpg.3_Missense_Mutation_p.W105C	NM_000790	NP_000781	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid	105	1.|2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(2)	2	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GGACCCTCACCCAGGAGAAGC	0.647													A	50607613	C	A	50607613	3	1	49	1	0	0	0	0	1	0	0	0	4325	637	22	5	1175	5	DDC	7	50607613	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	76538	50607613	108531050	607	39488											
CCT6A	908	broad.mit.edu	37	chr7	56126114	56126114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagaaaaactcgtgaaagCtgaaagaaaattcattgaag	10	4	1	5			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:56126114C>T	uc003trl.1	+	7	949	c.785C>T	c.(784-786)GCT>GTT	p.A262V	PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.A217V|CCT6A_uc011kcu.1_Missense_Mutation_p.A231V|SNORA15_uc003trn.1_5'Flank	NM_001762	NP_001753	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A isoform	262					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			upper_aerodigestive_tract(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTCGTGAAAGCTGAAAGAAAA	0.308													T	56126114	C	T	56126114	3	4	49	1	0	0	0	0	1	0	0	0	2957	797	28	2	811	2	CCT6A	7	56126114	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	5518501	56126114	103012549	608	39489											
ZNF479	90827	broad.mit.edu	37	chr7	57188194	57188194	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgtggtcagtgagggttgAggatacgctaaaggctttgc	15	6	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:57188194A>G	uc010kzo.2	-	5	1199	c.928T>C	c.(928-930)TCA>CCA	p.S310P		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	310	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)			GTGAGGGTTGAGGATACGCTA	0.468													G	57188194	A	G	57188194	3	3	49	1	0	0	0	0	1	0	0	0	17930	304	11	3	650	3	ZNF479	7	57188194	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1062080	57188194	101950469	609	39490											
ZNF479	90827	broad.mit.edu	37	chr7	57194337	57194337	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtagttctctaacatcacaTctctatataaattccgctga	4	10	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:57194337T>C	uc010kzo.2	-	3	399	c.128A>G	c.(127-129)GAT>GGT	p.D43G		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)			TAACATCACATCTCTATATAA	0.383													C	57194337	T	C	57194337	3	2	49	1	0	0	0	0	1	0	0	0	17930	1435	50	3	1458	3	ZNF479	7	57194337	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	6143	57194337	101944326	610	39491											
GUSB	2990	broad.mit.edu	37	chr7	65445384	65445384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggaactggcatgtccaCggtggggcctgactgtggag	19	8	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:65445384C>T	uc003tun.2	-	2	299	c.223G>A	c.(223-225)GTG>ATG	p.V75M	GUSB_uc011kdt.1_Missense_Mutation_p.V75M|GUSB_uc010kzw.1_Translation_Start_Site	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	75					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0						GGCATGTCCACGGTGGGGCCT	0.453													T	65445384	C	T	65445384	3	4	49	1	0	0	0	0	1	0	0	0	6902	536	19	1	1776	1	GUSB	7	65445384	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	8251047	65445384	93693279	611	39492											
FZD9	8326	broad.mit.edu	37	chr7	72849269	72849269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggagggcctggagaacaCgggctgcacgctggtcttcc	15	13	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:72849269C>T	uc003tyb.2	+	1	1161	c.932C>T	c.(931-933)ACG>ATG	p.T311M		NM_003508	NP_003499	O00144	FZD9_HUMAN	frizzled 9 precursor	311	Extracellular (Potential).				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTGGAGAACACGGGCTGCACG	0.667													T	72849269	C	T	72849269	3	4	49	1	0	0	0	0	1	0	0	0	6137	536	19	1	934	1	FZD9	7	72849269	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	7403885	72849269	86289394	612	39493											
MAGI2	9863	broad.mit.edu	37	chr7	78636484	78636484	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaacccttttgaaatcgtaAgttgaggtagtgacgaaggt	12	5	0	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:78636484A>C	uc003ugx.2	-	2	594	c.340T>G	c.(340-342)TTA>GTA	p.L114V	MAGI2_uc003ugy.2_Missense_Mutation_p.L114V	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	114	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGAAATCGTAAGTTGAGGTAG	0.388													C	78636484	A	C	78636484	3	2	49	1	0	0	0	0	1	0	0	0	9191	69	3	5	4111	5	MAGI2	7	78636484	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	5787215	78636484	80502179	613	39494											
GRM3	2913	broad.mit.edu	37	chr7	86468905	86468905	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagttctcaggttttcatctGcctgggtctgatcctggtgc	11	11	4	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:86468905G>C	uc003uid.2	+	4	3174	c.2075G>C	c.(2074-2076)TGC>TCC	p.C692S	GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.C564S|GRM3_uc010leh.2_Missense_Mutation_p.C284S	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	692	Helical; Name=4; (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GTTTTCATCTGCCTGGGTCTG	0.542													C	86468905	G	C	86468905	3	2	49	1	0	0	0	0	1	0	0	0	6798	1319	46	5	2085	5	GRM3	7	86468905	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	7832421	86468905	72669758	614	39495											
ADAM22	53616	broad.mit.edu	37	chr7	87759712	87759712	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgctttcagtttaaaaaaCatcggctttccgttgtacat	6	8	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:87759712C>A	uc003ujn.2	+	10	842	c.763C>A	c.(763-765)CAT>AAT	p.H255N	ADAM22_uc003ujj.1_Missense_Mutation_p.H255N|ADAM22_uc003ujk.1_Missense_Mutation_p.H255N|ADAM22_uc003ujl.1_Missense_Mutation_p.H255N|ADAM22_uc003ujm.2_Missense_Mutation_p.H255N|ADAM22_uc003ujo.2_Missense_Mutation_p.H255N|ADAM22_uc003ujp.1_Missense_Mutation_p.H307N	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	255	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GTTTAAAAAACATCGGCTTTC	0.378													A	87759712	C	A	87759712	3	1	49	1	0	0	0	0	1	0	0	0	244	478	17	5	801	5	ADAM22	7	87759712	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1290807	87759712	71378951	615	39496											
ASB4	51666	broad.mit.edu	37	chr7	95167036	95167036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccattgtcattgaaaaagTacttgcttttagagccagag	8	8	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:95167036T>C	uc011kij.1	+	5	1246	c.1246T>C	c.(1246-1248)TAC>CAC	p.Y416H		NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box-containing protein 4	416	SOCS box.				intracellular signal transduction					central_nervous_system(1)	1	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			ATTGAAAAAGTACTTGCTTTT	0.408													C	95167036	T	C	95167036	3	2	49	1	0	0	0	0	1	0	0	0	1025	1638	57	3	1336	3	ASB4	7	95167036	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	7407324	95167036	63971627	616	39497											
DLX5	1749	broad.mit.edu	37	chr7	96653686	96653686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggctgggtagctcccggCggagccgttcacgccgtgat	15	12	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:96653686C>T	uc003uon.2	-	1	458	c.250G>A	c.(250-252)GCC>ACC	p.A84T	DLX5_uc011kim.1_Missense_Mutation_p.A84T	NM_005221	NP_005212	P56178	DLX5_HUMAN	distal-less homeobox 5	84					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TAGCTCCCGGCGGAGCCGTTC	0.617													T	96653686	C	T	96653686	3	4	49	1	0	0	0	0	1	0	0	0	4574	768	27	1	631	1	DLX5	7	96653686	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1486650	96653686	62484977	617	39498											
PTCD1	26024	broad.mit.edu	37	chr7	99027333	99027333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgccggagcttcagggCgctctgtagagctgagtcct	14	12	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:99027333C>T	uc003uqh.2	-	4	822	c.691G>A	c.(691-693)GCC>ACC	p.A231T	PTCD1_uc011kiw.1_Missense_Mutation_p.A280T	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	231	PPR 3.									ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AGCTTCAGGGCGCTCTGTAGA	0.587													T	99027333	C	T	99027333	3	4	49	1	0	0	0	0	1	0	0	0	12727	768	27	1	1431	1	PTCD1	7	99027333	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2373647	99027333	60111330	618	39499											
ZSCAN21	7589	broad.mit.edu	37	chr7	99654893	99654893	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagatcctggagctactGgtgctggagcagttcctgac	14	10	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:99654893G>A	uc003uso.2	+	2	408	c.264G>A	c.(262-264)CTG>CTA	p.L88L	ZSCAN21_uc011kje.1_Silent_p.L87L|ZSCAN21_uc003usn.1_Silent_p.L87L	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	zinc finger protein 38	88	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGGAGCTACTGGTGCTGGAGC	0.637													A	99654893	G	A	99654893	2	1	49	1	0	0	0	0	0	0	0	1	18230	1335	47	4		4	ZSCAN21	7	99654893	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	627560	99654893	59483770	619	39500											
LRCH4	4034	broad.mit.edu	37	chr7	100175478	100175478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcgttctctgggtccccGgggctcccgggccagctctg	14	16	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:100175478G>A	uc003uvj.2	-	8	1059	c.1006C>T	c.(1006-1008)CGG>TGG	p.R336W	LRCH4_uc010lgz.2_RNA|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_RNA	NM_002319	NP_002310	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH)	336					nervous system development	PML body	protein binding			large_intestine(1)|ovary(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGGGTCCCCGGGGCTCCCGG	0.607													A	100175478	G	A	100175478	3	1	49	1	0	0	0	0	1	0	0	0	8935	1115	39	1	1089	1	LRCH4	7	100175478	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	520585	100175478	58963185	620	39501											
EPHB4	2050	broad.mit.edu	37	chr7	100410487	100410487	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctcgaactggcccatgAtggaggcctcgctcagaaac	13	12	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:100410487A>G	uc003uwn.1	-	12	2491	c.2000T>C	c.(1999-2001)ATC>ACC	p.I667T	EPHB4_uc003uwm.1_Missense_Mutation_p.I574T|EPHB4_uc010lhj.1_Missense_Mutation_p.I667T	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	667	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTGGCCCATGATGGAGGCCTC	0.602													G	100410487	A	G	100410487	3	3	49	1	0	0	0	0	1	0	0	0	5177	333	12	3	987	3	EPHB4	7	100410487	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	235009	100410487	58728176	621	39502											
MUC17	140453	broad.mit.edu	37	chr7	100678679	100678679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgaaggtaccagcatgCcaacctcaacttatagtgaa	8	11	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:100678679C>T	uc003uxp.1	+	3	4035	c.3982C>T	c.(3982-3984)CCA>TCA	p.P1328S	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1328	Extracellular (Potential).|20.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.458													T	100678679	C	T	100678679	3	4	49	1	0	0	0	0	1	0	0	0	9974	739	26	2	3992	2	MUC17	7	100678679	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	268192	100678679	58459984	622	39503											
MUC17	140453	broad.mit.edu	37	chr7	100680822	100680822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctcaactcctagtgaacGgaccactccattagcaggta	7	13	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:100680822G>A	uc003uxp.1	+	3	6178	c.6125G>A	c.(6124-6126)CGG>CAG	p.R2042Q	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2042	Extracellular (Potential).|32.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTAGTGAACGGACCACTCCA	0.507													A	100680822	G	A	100680822	3	1	49	1	0	0	0	0	1	0	0	0	9974	1116	39	1	6135	1	MUC17	7	100680822	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2143	100680822	58457841	623	39504											
TRIM56	81844	broad.mit.edu	37	chr7	100732127	100732127	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcggtccccccggatcaccGggctctgtcccttcggtccc	11	19	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:100732127G>T	uc003uxq.2	+	3	1765	c.1534G>T	c.(1534-1536)GGG>TGG	p.G512W	TRIM56_uc003uxr.2_Intron	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	512					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					CCGGATCACCGGGCTCTGTCC	0.652													T	100732127	G	T	100732127	3	4	49	1	0	0	0	0	1	0	0	0	16527	1116	39	5	1536	5	TRIM56	7	100732127	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	51305	100732127	58406536	624	39505											
CUX1	1523	broad.mit.edu	37	chr7	101837172	101837172	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagggcgctgggacacaggTacgtgtctcacctcaatggt	14	11	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:101837172T>C	uc003uyx.3	+	13	1163	c.1125_splice	c.e13+2	p.Q375_splice	CUX1_uc003uys.3_Splice_Site_p.Q386_splice|CUX1_uc003uyt.2_Splice_Site_p.Q386_splice|CUX1_uc011kkn.1_Splice_Site_p.Q347_splice|CUX1_uc003uyw.2_Splice_Site_p.Q340_splice|CUX1_uc003uyv.2_Splice_Site_p.Q370_splice|CUX1_uc003uyu.2_Splice_Site_p.Q384_splice	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a						negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						GGGACACAGGTACGTGTCTCA	0.493													C	101837172	T	C	101837172	5	2	49	1	0	0	0	0	0	0	1	0	4064	1652	57	3	1244	3	CUX1	7	101837172	Splice_Site	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1105045	101837172	57301491	625	39506											
FBXL13	222235	broad.mit.edu	37	chr7	102604003	102604003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagatctgaaagttttgggtCggagaagacaaccacgaaaa	11	7	1	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:102604003C>T	uc003vaq.2	-	8	1128	c.701G>A	c.(700-702)CGA>CAA	p.R234Q	FBXL13_uc010liq.1_Missense_Mutation_p.R49Q|FBXL13_uc010lir.1_Missense_Mutation_p.R234Q|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.R234Q|FBXL13_uc003vav.2_RNA	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	234	LRR 1.										0						AGTTTTGGGTCGGAGAAGACA	0.338													T	102604003	C	T	102604003	3	4	49	1	0	0	0	0	1	0	0	0	5709	884	31	1	1558	1	FBXL13	7	102604003	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	766831	102604003	56534660	626	39507											
COG5	10466	broad.mit.edu	37	chr7	106876896	106876896	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtaattcatcaatgtaccTgtgcaaaatcagcagcaagt	7	8	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:106876896T>G	uc003ved.2	-	17	2645	c.2120A>C	c.(2119-2121)CAG>CCG	p.Q707P	COG5_uc003vec.2_Missense_Mutation_p.Q728P|COG5_uc003vee.2_Missense_Mutation_p.Q728P	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	707					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						TCAATGTACCTGTGCAAAATC	0.378													G	106876896	T	G	106876896	3	3	49	1	0	0	0	0	1	0	0	0	3661	1594	55	5	423	5	COG5	7	106876896	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	4272893	106876896	52261767	627	39508											
DOCK4	9732	broad.mit.edu	37	chr7	111368525	111368525	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccgctcgtagacgctgtaCgggggcggagtcttgctctc	15	12	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:111368525C>T	uc003vfx.2	-	52	5975	c.5706G>A	c.(5704-5706)CCG>CCA	p.P1902P	DOCK4_uc011kml.1_Silent_p.P783P|DOCK4_uc011kmm.1_Silent_p.P771P|DOCK4_uc003vfw.2_Silent_p.P1314P|DOCK4_uc003vfy.2_Silent_p.P1947P|DOCK4_uc003vfv.2_Silent_p.P215P	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1902	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				AGACGCTGTACGGGGGCGGAG	0.716													T	111368525	C	T	111368525	2	4	49	1	0	0	0	0	0	0	0	1	4689	523	19	1		1	DOCK4	7	111368525	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	4491629	111368525	47770138	628	39509											
TFEC	22797	broad.mit.edu	37	chr7	115594657	115594657	+	Frame_Shift_Del	DEL	T	T	-													cactgaggttgtggttgtccTttttttgtctctcttttgct							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:115594656_115594656CT>C	uc003vhj.2	-	4	676	c.423_423AG>G	c.(421-423)aagfs	p.K141fs	TFEC_uc003vhm.2_Frame_Shift_Del_p.K74fs|TFEC_uc003vhk.2_Frame_Shift_Del_p.K112fs|TFEC_uc003vhl.4_Frame_Shift_Del_p.K112fs|TFEC_uc011kmw.2_Frame_Shift_Del_p.K231fs	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	141	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.K141fs*42(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TGTGGTTGTCCTTTTTTTGTC	0.333													-	115594657	T	-	115594657	7	5	49	1	0	1	0	1	0	0	0	0	15799	1609	56	0	637	0	TFEC	7	115594657	Frame_Shift_Del	DEL	T	TCGA-BR-7707-01A-11D-2053-08	4226132	115594657	43544006	629	39510											
FAM3C	10447	broad.mit.edu	37	chr7	121019010	121019010	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttttatttcaaatacttgAgaaataacataaaatgtcag	4	4	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:121019010A>G	uc003vjx.2	-	3	320	c.72T>C	c.(70-72)TCT>TCC	p.S24S	FAM3C_uc010lkm.2_Silent_p.S24S	NM_014888	NP_055703	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	24					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity				0	all_neural(327;0.117)					CAAATACTTGAGAAATAACAT	0.318													G	121019010	A	G	121019010	2	3	49	1	0	0	0	0	0	0	0	1	5558	291	11	3		3	FAM3C	7	121019010	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	5424353	121019010	38119653	630	39511											
CADPS2	93664	broad.mit.edu	37	chr7	122194640	122194640	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggtttatccattcgcActgccagtttgatttttaag	9	8	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:122194640A>G	uc010lkp.2	-	8	1602	c.1439T>C	c.(1438-1440)GTG>GCG	p.V480A	CADPS2_uc003vkg.3_Missense_Mutation_p.V180A|CADPS2_uc010lkq.2_Missense_Mutation_p.V480A	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	480					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						ATCCATTCGCACTGCCAGTTT	0.333													G	122194640	A	G	122194640	3	3	49	1	0	0	0	0	1	0	0	0	2571	159	6	3	2587	3	CADPS2	7	122194640	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1175630	122194640	36944023	631	39512											
GPR37	2861	broad.mit.edu	37	chr7	124404242	124404242	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacggacagacacatgacCgcgtaggctccataggactc	10	14	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:124404242C>T	uc003vli.2	-	1	1440	c.789G>A	c.(787-789)GCG>GCA	p.A263A		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	263	Extracellular (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						GACACATGACCGCGTAGGCTC	0.602													T	124404242	C	T	124404242	2	4	49	1	0	0	0	0	0	0	0	1	6691	639	23	1		1	GPR37	7	124404242	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2209602	124404242	34734421	632	39513											
GCC1	79571	broad.mit.edu	37	chr7	127222705	127222705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccgctccagctcctgcCggtggagctgctgcagccgg	15	16	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:127222705C>T	uc003vma.2	-	2	2109	c.1691G>A	c.(1690-1692)CGG>CAG	p.R564Q		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Golgi coiled-coil protein 1	564	Potential.					Golgi membrane|plasma membrane	protein binding			ovary(2)	2						CAGCTCCTGCCGGTGGAGCTG	0.637													T	127222705	C	T	127222705	3	4	49	1	0	0	0	0	1	0	0	0	6285	652	23	1	640	1	GCC1	7	127222705	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2818463	127222705	31915958	633	39514											
FSCN3	29999	broad.mit.edu	37	chr7	127235583	127235583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagtccaatggcaaggacGtgttttgcacttcccacgtc	11	11	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:127235583G>A	uc003vmd.1	+	2	586	c.367G>A	c.(367-369)GTG>ATG	p.V123M	FSCN3_uc003vmc.1_Missense_Mutation_p.V78M|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Translation_Start_Site|FSCN3_uc010llc.1_Missense_Mutation_p.V123M	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	123						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1						TGGCAAGGACGTGTTTTGCAC	0.567													A	127235583	G	A	127235583	3	1	49	1	0	0	0	0	1	0	0	0	6069	1145	40	1	373	1	FSCN3	7	127235583	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	12878	127235583	31903080	634	39515											
PAX4	5078	broad.mit.edu	37	chr7	127255502	127255502	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcattccactgactgctaGccgcacaatctgctgccggg	10	16	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:127255502G>T	uc010lld.1	-	1	279	c.73C>A	c.(73-75)CTA>ATA	p.L25I	PAX4_uc003vmf.2_5'UTR|PAX4_uc003vmg.1_Missense_Mutation_p.L25I|PAX4_uc003vmh.2_5'UTR	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	33	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTGACTGCTAGCCGCACAATC	0.592													T	127255502	G	T	127255502	3	4	49	1	0	0	0	0	1	0	0	0	11481	962	34	5	994	5	PAX4	7	127255502	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	19919	127255502	31883161	635	39516											
IMPDH1	3614	broad.mit.edu	37	chr7	128035288	128035288	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccgggcatactcagccacCttgtacacagcagtgccctg	10	16	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:128035288C>A	uc011kol.1	-	10	1153	c.1047G>T	c.(1045-1047)AAG>AAT	p.K349N	IMPDH1_uc011kom.1_Missense_Mutation_p.K344N|IMPDH1_uc003vmt.2_Missense_Mutation_p.K324N|IMPDH1_uc003vmu.2_Missense_Mutation_p.K434N|IMPDH1_uc003vmw.2_Missense_Mutation_p.K424N|IMPDH1_uc011kon.1_Missense_Mutation_p.K401N|IMPDH1_uc003vmv.2_Missense_Mutation_p.K398N|IMPDH1_uc003vmx.2_Missense_Mutation_p.K357N|IMPDH1_uc003vmy.2_Missense_Mutation_p.K365N|uc011koo.1_5'Flank	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	inosine monophosphate dehydrogenase 1 isoform e	349					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			skin(2)|lung(1)|central_nervous_system(1)	4					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	ACTCAGCCACCTTGTACACAG	0.647													A	128035288	C	A	128035288	3	1	49	1	0	0	0	0	1	0	0	0	7726	680	24	5	517	5	IMPDH1	7	128035288	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	779786	128035288	31103375	636	39517											
FLNC	2318	broad.mit.edu	37	chr7	128488118	128488118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgaccaggaggtgccaCgcaggtgaggaccagccctg	15	12	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:128488118C>T	uc003vnz.3	+	26	4785	c.4576C>T	c.(4576-4578)CGC>TGC	p.R1526C	FLNC_uc003voa.3_Missense_Mutation_p.R1526C	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1526	Filamin 13.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GGAGGTGCCACGCAGGTGAGG	0.652													T	128488118	C	T	128488118	3	4	49	1	0	0	0	0	1	0	0	0	5935	536	19	1	4678	1	FLNC	7	128488118	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	452830	128488118	30650545	637	39518											
FLNC	2318	broad.mit.edu	37	chr7	128488733	128488733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagttcaccatcgacgcaCgggacgcgggcgaggggttg	18	10	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:128488733C>T	uc003vnz.3	+	27	4908	c.4699C>T	c.(4699-4701)CGG>TGG	p.R1567W	FLNC_uc003voa.3_Missense_Mutation_p.R1567W	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1567	Filamin 14.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CATCGACGCACGGGACGCGGG	0.662													T	128488733	C	T	128488733	3	4	49	1	0	0	0	0	1	0	0	0	5935	527	19	1	4805	1	FLNC	7	128488733	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	615	128488733	30649930	638	39519											
DGKI	9162	broad.mit.edu	37	chr7	137304593	137304593	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtttcttcaccttaatgaTccaagtgggcgggacaataa	10	8	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:137304593T>C	uc003vtt.2	-	8	971	c.970A>G	c.(970-972)ATC>GTC	p.I324V	DGKI_uc003vtu.2_Missense_Mutation_p.I24V	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	324					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						ACCTTAATGATCCAAGTGGGC	0.512													C	137304593	T	C	137304593	3	2	49	1	0	0	0	0	1	0	0	0	4471	1435	50	3	2335	3	DGKI	7	137304593	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	8815860	137304593	21834070	639	39520											
JHDM1D	80853	broad.mit.edu	37	chr7	139790972	139790972	+	Frame_Shift_Del	DEL	T	T	-													tgtttggctgttgccattccTttttttggacgtttacctat							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:139790971_139790971CT>C	uc003vvm.3	-	19	2753	c.2749_2749AG>G	c.(2749-2751)ggafs	p.G917fs	JHDM1D_uc010lng.3_Non-coding_Transcript	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	917					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GTTGCCATTCCTTTTTTTGGA	0.433													-	139790972	T	-	139790972	7	5	49	1	0	1	0	1	0	0	0	0	7948	1606	56	0	81	0	JHDM1D	7	139790972	Frame_Shift_Del	DEL	T	TCGA-BR-7707-01A-11D-2053-08	2486379	139790972	19347691	640	39521											
WEE2	494551	broad.mit.edu	37	chr7	141418950	141418950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaaaaaattggggttggcGaatttggtacagtctacaag	12	4	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:141418950G>A	uc003vwn.2	+	4	1070	c.664G>A	c.(664-666)GAA>AAA	p.E222K	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	222	ATP (By similarity).|Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)					TGGGGTTGGCGAATTTGGTAC	0.358													A	141418950	G	A	141418950	3	1	49	1	0	0	0	0	1	0	0	0	17342	1059	37	1	678	1	WEE2	7	141418950	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1627978	141418950	17719713	641	39522											
MGAM	8972	broad.mit.edu	37	chr7	141747669	141747669	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctgggataatggggaaacGaagggtgagcacttatacga	14	5	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:141747669G>A	uc003vwy.2	+	22	2637	c.2583G>A	c.(2581-2583)ACG>ACA	p.T861T		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	861	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGGGGAAACGAAGGGTGAGC	0.458													A	141747669	G	A	141747669	2	1	49	1	0	0	0	0	0	0	0	1	9541	1045	37	1		1	MGAM	7	141747669	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	328719	141747669	17390994	642	39523											
CNTNAP2	26047	broad.mit.edu	37	chr7	146536911	146536911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacccaaggaaggtatagcaGctcagattgggtgacccaat	11	9	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:146536911G>A	uc003weu.1	+	3	833	c.317G>A	c.(316-318)AGC>AAC	p.S106N		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	106	F5/8 type C.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGGTATAGCAGCTCAGATTGG	0.493										HNSCC(39;0.1)			A	146536911	G	A	146536911	3	1	49	1	0	0	0	0	1	0	0	0	3647	971	34	2	327	2	CNTNAP2	7	146536911	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4789242	146536911	12601752	643	39524											
CUL1	8454	broad.mit.edu	37	chr7	148427309	148427309	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccggcatccagcaggtgtAcacacggcagagcatggcca	13	13	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:148427309A>G	uc010lpg.2	+	2	621	c.95A>G	c.(94-96)TAC>TGC	p.Y32C	CUL1_uc003wey.2_Missense_Mutation_p.Y32C|CUL1_uc003wez.2_5'UTR	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	32					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CAGCAGGTGTACACACGGCAG	0.537													G	148427309	A	G	148427309	3	3	49	1	0	0	0	0	1	0	0	0	4054	391	14	3	97	3	CUL1	7	148427309	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1890398	148427309	10711354	644	39525											
CUL1	8454	broad.mit.edu	37	chr7	148484179	148484179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagaacagtgcaagtgaCgatgccgaagccagcatgat	11	11	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:148484179C>T	uc010lpg.2	+	13	1972	c.1446C>T	c.(1444-1446)GAC>GAT	p.D482D	CUL1_uc003wey.2_Silent_p.D482D|CUL1_uc003wez.2_Silent_p.D372D|CUL1_uc003wfa.2_Silent_p.D143D	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	482					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GTGCAAGTGACGATGCCGAAG	0.413													T	148484179	C	T	148484179	2	4	49	1	0	0	0	0	0	0	0	1	4054	535	19	1		1	CUL1	7	148484179	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	56870	148484179	10654484	645	39526											
CUL1	8454	broad.mit.edu	37	chr7	148489867	148489867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtacaacacggaagatgCctacactgtgcagcagctga	10	11	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:148489867C>T	uc010lpg.2	+	17	2382	c.1856C>T	c.(1855-1857)GCC>GTC	p.A619V	CUL1_uc003wey.2_Missense_Mutation_p.A619V|CUL1_uc003wez.2_Missense_Mutation_p.A509V|CUL1_uc003wfa.2_Missense_Mutation_p.A280V	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	619					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ACGGAAGATGCCTACACTGTG	0.463													T	148489867	C	T	148489867	3	4	49	1	0	0	0	0	1	0	0	0	4054	739	26	2	1918	2	CUL1	7	148489867	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	5688	148489867	10648796	646	39527											
ABCB8	11194	broad.mit.edu	37	chr7	150742328	150742328	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagctcctgaagaaaggCgggctatacgccgagctcat	13	10	1	3	rs144165657	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:150742328C>T	uc003wil.3	+	17	2193	c.2100C>T	c.(2098-2100)GGC>GGT	p.G700G	ABCB8_uc010lpx.2_Silent_p.G658G|ABCB8_uc011kvd.1_Silent_p.G595G|ABCB8_uc003wim.3_Silent_p.G478G|ABCB8_uc003wik.3_Silent_p.G683G	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	700	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGAAGAAAGGCGGGCTATACG	0.632													T	150742328	C	T	150742328	2	4	49	1	0	0	0	0	0	0	0	1	47	755	27	1		1	ABCB8	7	150742328	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2252461	150742328	8396335	647	39528											
CHPF2	54480	broad.mit.edu	37	chr7	150935141	150935141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgaggctggcctggctcGctgtgcgagcagaggcccct	17	13	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:150935141G>A	uc003wjr.1	+	4	3206	c.1693G>A	c.(1693-1695)GCT>ACT	p.A565T	CHPF2_uc003wjq.1_Missense_Mutation_p.A557T|MIR671_hsa-mir-671|MI0003760_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	565	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1						GGCCTGGCTCGCTGTGCGAGC	0.617													A	150935141	G	A	150935141	3	1	49	1	0	0	0	0	1	0	0	0	3369	1087	38	1	1707	1	CHPF2	7	150935141	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	192813	150935141	8203522	648	39529											
MLL3	58508	broad.mit.edu	37	chr7	151873936	151873936	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcacaaggatgcaaagaagTcttttctccatcatttaggt	7	8	4	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:151873936T>C	uc003wla.2	-	38	8821	c.8602A>G	c.(8602-8604)ACT>GCT	p.T2868A	MLL3_uc003wkz.2_Missense_Mutation_p.T1929A|MLL3_uc003wky.2_Missense_Mutation_p.T377A	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2868					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGCAAAGAAGTCTTTTCTCCA	0.408			N		medulloblastoma								C	151873936	T	C	151873936	3	2	49	1	0	0	0	0	1	0	0	0	9622	1667	58	3	6221	3	MLL3	7	151873936	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	938795	151873936	7264727	649	39530											
MLL3	58508	broad.mit.edu	37	chr7	151874713	151874713	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaccctggggaggtcgtcGcatggggtctgtgtgtctag	17	8	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:151874713G>A	uc003wla.2	-	38	8044	c.7825C>T	c.(7825-7827)CGA>TGA	p.R2609*	MLL3_uc003wkz.2_Nonsense_Mutation_p.R1670*|MLL3_uc003wky.2_Nonsense_Mutation_p.R118*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2609	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.R2609*(1)		large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGAGGTCGTCGCATGGGGTCT	0.532			N		medulloblastoma								A	151874713	G	A	151874713	4	1	49	1	0	0	0	0	0	1	0	0	9622	1095	38	1	6998	1	MLL3	7	151874713	Nonsense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	777	151874713	7263950	650	39531											
HTR5A	3361	broad.mit.edu	37	chr7	154862764	154862764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgctgggctttctggtggCggcgacgttcgcctggaacc	15	12	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:154862764C>T	uc003wlu.1	+	1	219	c.155C>T	c.(154-156)GCG>GTG	p.A52V	uc011kvt.1_Missense_Mutation_p.A84T|uc003wlt.2_Missense_Mutation_p.A84T	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	52	Helical; Name=1; (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTTCTGGTGGCGGCGACGTTC	0.647													T	154862764	C	T	154862764	3	4	49	1	0	0	0	0	1	0	0	0	7450	768	27	1	157	1	HTR5A	7	154862764	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2988051	154862764	4275899	651	39532											
UBE3C	9690	broad.mit.edu	37	chr7	156976641	156976642	+	Frame_Shift_Del	DEL	TC	TC	-													cttcctctctcagttaccagTctctcctgccagcgcgagct							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:156976640_156976641GTC>G	uc010lqs.3	+	8	1372_1373	c.1060_1061GTC>G	c.(1060-1062)gtcfs	p.V354fs	UBE3C_uc003wnf.2_Frame_Shift_Del_p.V311fs|UBE3C_uc003wng.2_Frame_Shift_Del_p.V354fs	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	354					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TCAGTTACCAGTCTCTCCTGCC	0.559													-	156976642	TC	-	156976641	7	5	49	1	0	1	0	1	0	0	0	0	16878	1667	58	0	1095	0	UBE3C	7	156976641	Frame_Shift_Del	DEL	TC	TCGA-BR-7707-01A-11D-2053-08	2113877	156976641	2162022	652	39533											
PTPRN2	5799	broad.mit.edu	37	chr7	157369377	157369377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcaggaagtggaactgcGtcacggtgcgcgtctcgttg	14	10	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:157369377G>A	uc003wno.2	-	19	2832	c.2711C>T	c.(2710-2712)ACG>ATG	p.T904M	PTPRN2_uc003wnp.2_Missense_Mutation_p.T887M|PTPRN2_uc003wnq.2_Missense_Mutation_p.T875M|PTPRN2_uc003wnr.2_Missense_Mutation_p.T866M|PTPRN2_uc011kwa.1_Missense_Mutation_p.T927M|uc011kwb.1_5'Flank|MIR153-2_hsa-mir-153-2|MI0000464_5'Flank	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	904	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GTGGAACTGCGTCACGGTGCG	0.607													A	157369377	G	A	157369377	3	1	49	1	0	0	0	0	1	0	0	0	12808	1145	40	1	356	1	PTPRN2	7	157369377	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	392736	157369377	1769286	653	39534											
ARHGEF10	9639	broad.mit.edu	37	chr8	1842674	1842674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactcgctatttcagatcgCgctggccagccgcgtttccg	10	16	1	1	rs144726787		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:1842674C>T	uc003wpr.2	+	13	1554	c.1376C>T	c.(1375-1377)GCG>GTG	p.A459V	ARHGEF10_uc003wpq.1_Missense_Mutation_p.A484V|ARHGEF10_uc003wps.2_Missense_Mutation_p.A421V|ARHGEF10_uc003wpt.2_Missense_Mutation_p.A335V|ARHGEF10_uc003wpv.2_Missense_Mutation_p.A192V|ARHGEF10_uc010lre.2_Missense_Mutation_p.A139V	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	484	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TTTCAGATCGCGCTGGCCAGC	0.547													T	1842674	C	T	1842674	3	4	49	1	0	0	0	0	1	0	0	0	894	768	27	1	1422	1	ARHGEF10	8	1842674	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08		1842674	144521348	654	39535											
RP1L1	94137	broad.mit.edu	37	chr8	10466430	10466430	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccggccccagccctccctcAgctccctggacagtcctagt	8	21	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:10466430A>G	uc003wtc.2	-	4	5407	c.5178T>C	c.(5176-5178)GCT>GCC	p.A1726A		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1726					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GCCCTCCCTCAGCTCCCTGGA	0.647													G	10466430	A	G	10466430	2	3	49	1	0	0	0	0	0	0	0	1	13533	175	7	3		3	RP1L1	8	10466430	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	8623756	10466430	135897592	655	39536											
RP1L1	94137	broad.mit.edu	37	chr8	10467747	10467747	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagctaactgctccaggttCgagctcgccctctgctcctc	8	17	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:10467747C>T	uc003wtc.2	-	4	4090	c.3861G>A	c.(3859-3861)TCG>TCA	p.S1287S		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1287					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GCTCCAGGTTCGAGCTCGCCC	0.408													T	10467747	C	T	10467747	2	4	49	1	0	0	0	0	0	0	0	1	13533	871	31	1		1	RP1L1	8	10467747	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1317	10467747	135896275	656	39537											
EFHA2	286097	broad.mit.edu	37	chr8	16884826	16884826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcttgtggccgccaccccGggtgtctcctccactctgcg	11	18	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:16884826G>A	uc003wxd.2	+	1	80	c.38G>A	c.(37-39)CGG>CAG	p.R13Q		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	13						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		CCGCCACCCCGGGTGTCTCCT	0.657													A	16884826	G	A	16884826	3	1	49	1	0	0	0	0	1	0	0	0	4944	1116	39	1	40	1	EFHA2	8	16884826	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	6417079	16884826	129479196	657	39538											
CNOT7	29883	broad.mit.edu	37	chr8	17100550	17100550	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttgaagttcctggagggtAttctccttgctcattcataa	9	8	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:17100550A>G	uc003wxf.1	-	3	430	c.262T>C	c.(262-264)TAC>CAC	p.Y88H	CNOT7_uc003wxg.1_Missense_Mutation_p.Y88H|CNOT7_uc003wxh.1_Missense_Mutation_p.Y88H|CNOT7_uc003wxi.1_Missense_Mutation_p.Y88H	NM_013354	NP_037486	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	88					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)	1				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		CCTGGAGGGTATTCTCCTTGC	0.333													G	17100550	A	G	17100550	3	3	49	1	0	0	0	0	1	0	0	0	3624	449	16	3	621	3	CNOT7	8	17100550	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	215724	17100550	129263472	658	39539											
MTMR7	9108	broad.mit.edu	37	chr8	17159727	17159727	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccttcactgccattaggtaaTctgtaactgactgtcggggc	10	11	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:17159727T>A	uc003wxm.2	-	13	1795	c.1556A>T	c.(1555-1557)GAT>GTT	p.D519V	MTMR7_uc003wxn.2_Missense_Mutation_p.D298V|MTMR7_uc011kya.1_Missense_Mutation_p.D153V|MTMR7_uc011kyb.1_Missense_Mutation_p.D110V	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	519							protein tyrosine phosphatase activity			skin(1)	1				Colorectal(111;0.112)		CATTAGGTAATCTGTAACTGA	0.448													A	17159727	T	A	17159727	3	1	49	1	0	0	0	0	1	0	0	0	9948	1435	50	5	434	5	MTMR7	8	17159727	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	59177	17159727	129204295	659	39540											
LZTS1	11178	broad.mit.edu	37	chr8	20110716	20110716	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcccttgtctgccttgttCgagtggcccagcttgctacc	12	14	1	0	rs141673059		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:20110716C>T	uc003wzr.2	-	2	837	c.726G>A	c.(724-726)TCG>TCA	p.S242S	LZTS1_uc010ltg.1_Silent_p.S242S	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	242					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CTGCCTTGTTCGAGTGGCCCA	0.627													T	20110716	C	T	20110716	2	4	49	1	0	0	0	0	0	0	0	1	9138	871	31	1		1	LZTS1	8	20110716	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2950989	20110716	126253306	660	39541											
DOK2	9046	broad.mit.edu	37	chr8	21767412	21767412	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgccctctccagagacgcAgcgacggcctgcctcaaagg	12	15	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:21767412A>C	uc003wzy.1	-	5	742	c.649T>G	c.(649-651)TGC>GGC	p.C217G	DOK2_uc003wzx.1_Missense_Mutation_p.C217G|DOK2_uc003wzz.1_Missense_Mutation_p.C63G|DOK2_uc010lth.1_Missense_Mutation_p.C63G	NM_003974	NP_003965	O60496	DOK2_HUMAN	docking protein 2	217	IRS-type PTB.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding				0				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CCAGAGACGCAGCGACGGCCT	0.522													C	21767412	A	C	21767412	3	2	49	1	0	0	0	0	1	0	0	0	4697	188	7	5	593	5	DOK2	8	21767412	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1656696	21767412	124596610	661	39542											
HR	55806	broad.mit.edu	37	chr8	21978706	21978706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggccctcggccagcacGgtcctctgctggggtctcag	15	15	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:21978706G>A	uc003xas.2	-	10	2904	c.2239C>T	c.(2239-2241)CGT>TGT	p.R747C	HR_uc003xat.2_Missense_Mutation_p.R747C	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	747							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CGGCCAGCACGGTCCTCTGCT	0.627													A	21978706	G	A	21978706	3	1	49	1	0	0	0	0	1	0	0	0	7347	1116	39	1	1370	1	HR	8	21978706	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	211294	21978706	124385316	662	39543											
PHYHIP	9796	broad.mit.edu	37	chr8	22079025	22079025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggatgaggtcctgggcGtggcggaagaccagctcccc	15	13	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:22079025G>A	uc003xbk.3	-	6	1528	c.834C>T	c.(832-834)CAC>CAT	p.H278H	PHYHIP_uc003xbj.3_Silent_p.H278H	NM_001099335	NP_001092805	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	278											0				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GGTCCTGGGCGTGGCGGAAGA	0.632													A	22079025	G	A	22079025	2	1	49	1	0	0	0	0	0	0	0	1	11866	1136	40	1		1	PHYHIP	8	22079025	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	100319	22079025	124284997	663	39544											
POLR3D	661	broad.mit.edu	37	chr8	22105999	22105999	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactctctttggcagttcctCgatgaccccggcctgaggaa	11	13	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:22105999C>T	uc003xbl.2	+	6	575	c.492C>T	c.(490-492)CTC>CTT	p.L164L	POLR3D_uc003xbm.2_Silent_p.L164L|POLR3D_uc011kze.1_RNA	NM_001722	NP_001713	P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	164					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity				0				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GGCAGTTCCTCGATGACCCCG	0.522													T	22105999	C	T	22105999	2	4	49	1	0	0	0	0	0	0	0	1	12231	871	31	1		1	POLR3D	8	22105999	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	26974	22105999	124258023	664	39545											
POLR3D	661	broad.mit.edu	37	chr8	22106136	22106136	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccccaaggaagaggacaTggaggtggacatacctgctg	15	9	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:22106136T>C	uc003xbl.2	+	6	712	c.629T>C	c.(628-630)ATG>ACG	p.M210T	POLR3D_uc003xbm.2_Missense_Mutation_p.M210T|POLR3D_uc011kze.1_RNA	NM_001722	NP_001713	P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	210					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity				0				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GAAGAGGACATGGAGGTGGAC	0.527													C	22106136	T	C	22106136	3	2	49	1	0	0	0	0	1	0	0	0	12231	1464	51	3	647	3	POLR3D	8	22106136	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	137	22106136	124257886	665	39546											
PPP3CC	5533	broad.mit.edu	37	chr8	22332543	22332543	+	Frame_Shift_Del	DEL	A	A	-													aaacctaaagttgatgttttAaaaaaccatttggtaaagga							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:22332542_22332542TA>T	uc011kzi.2	+	1	565	c.125_125TA>T	c.(124-126)ttafs	p.L42fs	PPP3CC_uc003xbr.2_Frame_Shift_Del_p.L42fs|PPP3CC_uc003xbs.3_Frame_Shift_Del_p.L42fs|PPP3CC_uc003xbt.3_Frame_Shift_Del_p.L42fs	NM_001243974	NP_001230903	P48454	PP2BC_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, gamma isozyme (PPP3CC), transcript variant 1, mRNA.	42					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		GTTGATGTTTTAAAAAACCAT	0.378													-	22332543	A	-	22332543	7	5	49	1	0	1	0	1	0	0	0	0	12399	359	13	0	132	0	PPP3CC	8	22332543	Frame_Shift_Del	DEL	A	TCGA-BR-7707-01A-11D-2053-08	226407	22332543	124031479	666	39547											
KIAA1967	57805	broad.mit.edu	37	chr8	22476350	22476350	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctctctaggaaacctggaCctgctgccccctcctgggaa	9	15	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:22476350C>A	uc003xch.2	+	19	2480	c.2343C>A	c.(2341-2343)GAC>GAA	p.D781E	KIAA1967_uc003xci.2_Missense_Mutation_p.D781E|KIAA1967_uc003xcj.1_Missense_Mutation_p.D450E	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	781					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GAAACCTGGACCTGCTGCCCC	0.607													A	22476350	C	A	22476350	3	1	49	1	0	0	0	0	1	0	0	0	8265	506	18	5	2413	5	KIAA1967	8	22476350	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	143807	22476350	123887672	667	39548											
ENTPD4	9583	broad.mit.edu	37	chr8	23294634	23294634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaaaggctggatagtctctCgacacaggtcaaagtctcca	10	10	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:23294634C>T	uc003xdl.2	-	10	1351	c.1187G>A	c.(1186-1188)CGA>CAA	p.R396Q	ENTPD4_uc011kzu.1_Missense_Mutation_p.R388Q|ENTPD4_uc003xdm.2_Missense_Mutation_p.R388Q|ENTPD4_uc011kzv.1_Missense_Mutation_p.R396Q	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	396	Lumenal (Potential).				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			ovary(1)|kidney(1)	2		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GATAGTCTCTCGACACAGGTC	0.468													T	23294634	C	T	23294634	3	4	49	1	0	0	0	0	1	0	0	0	5141	884	31	1	679	1	ENTPD4	8	23294634	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	818284	23294634	123069388	668	39549											
ADAM7	8756	broad.mit.edu	37	chr8	24349501	24349501	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggccactcgcctgcctgtcCtaaggaccagttcagggtca	11	14	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:24349501C>A	uc003xeb.2	+	14	1555	c.1442C>A	c.(1441-1443)CCT>CAT	p.P481H	ADAM7_uc003xec.2_Missense_Mutation_p.P253H	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	481	Disintegrin.|Extracellular (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)		CCTGCCTGTCCTAAGGACCAG	0.473													A	24349501	C	A	24349501	3	1	49	1	0	0	0	0	1	0	0	0	251	681	24	5	1496	5	ADAM7	8	24349501	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1054867	24349501	122014521	669	39550											
CHRNA2	1135	broad.mit.edu	37	chr8	27320543	27320543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtcggcaatgtagtgcaCaccttccagtgccttctgca	11	12	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:27320543C>T	uc010lur.2	-	6	2026	c.1417G>A	c.(1417-1419)GTG>ATG	p.V473M	CHRNA2_uc011lal.1_Missense_Mutation_p.V458M|CHRNA2_uc010lus.2_Missense_Mutation_p.V275M	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	473	Cytoplasmic.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	ATGTAGTGCACACCTTCCAGT	0.642													T	27320543	C	T	27320543	3	4	49	1	0	0	0	0	1	0	0	0	3383	478	17	4	180	4	CHRNA2	8	27320543	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2971042	27320543	119043479	670	39551											
CHRNA2	1135	broad.mit.edu	37	chr8	27320855	27320855	+	Frame_Shift_Del	DEL	C	C	-													gggcacacagcccagaagggCcccccgcacccagtggggca							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:27320854_27320854GC>G	uc010lur.3	-	5	1715	c.1106_1106GC>C	c.(1105-1107)gccfs	p.A369fs	CHRNA2_uc011lal.2_Frame_Shift_Del_p.A354fs|CHRNA2_uc010lus.3_Frame_Shift_Del_p.A171fs	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA.	369						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.A369fs*84(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GCCCAGAAGGGCCCCCCGCAC	0.647													-	27320855	C	-	27320855	7	5	49	1	0	1	0	1	0	0	0	0	3383	739	26	0	492	0	CHRNA2	8	27320855	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	312	27320855	119043167	671	39552											
INTS9	55756	broad.mit.edu	37	chr8	28638343	28638343	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatttttttcacttacccgTgaatatgacggtattgagac	7	7	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:28638343T>C	uc003xha.2	-	12	1566	c.1267A>G	c.(1267-1269)ACG>GCG	p.T423A	INTS9_uc011lav.1_Missense_Mutation_p.T399A|INTS9_uc011law.1_Missense_Mutation_p.T402A|INTS9_uc011lax.1_Missense_Mutation_p.T316A|INTS9_uc010lvc.2_RNA	NM_018250	NP_060720	Q9NV88	INT9_HUMAN	integrator complex subunit 9 isoform 1	423					snRNA processing	integrator complex	protein binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CACTTACCCGTGAATATGACG	0.502													C	28638343	T	C	28638343	3	2	49	1	0	0	0	0	1	0	0	0	7785	1696	59	3	733	3	INTS9	8	28638343	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1317488	28638343	117725679	672	39553											
HMBOX1	79618	broad.mit.edu	37	chr8	28906535	28906535	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccactcaaacagtgaTgatgtcgacgggaatgacta	13	8	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:28906535T>C	uc003xhd.3	+	9	1437	c.1095T>C	c.(1093-1095)GAT>GAC	p.D365D	HMBOX1_uc010lvd.2_Silent_p.D365D|HMBOX1_uc003xhc.3_Silent_p.D364D|HMBOX1_uc010lve.2_RNA|HMBOX1_uc003xhe.2_Silent_p.D365D|HMBOX1_uc011lay.1_Silent_p.D364D|HMBOX1_uc003xhf.2_Silent_p.D351D|HMBOX1_uc003xhg.2_Silent_p.D352D	NM_001135726	NP_001129198	Q6NT76	HMBX1_HUMAN	homeobox containing 1	365					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		CAAACAGTGATGATGTCGACG	0.517													C	28906535	T	C	28906535	2	2	49	1	0	0	0	0	0	0	0	1	7218	1461	51	3		3	HMBOX1	8	28906535	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	268192	28906535	117457487	673	39554											
KIF13B	23303	broad.mit.edu	37	chr8	29043992	29043992	+	Splice_Site	DEL	A	A	-													tataagattttccagagcctAaaaaaatggaaatcagagtt							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:29043991_29043991TA>T	uc003xhh.4	-	6	376	c.317_splice	c.e6-1	p.G106_splice	KIF13B_uc003xhj.2_Splice_Site_p.G3_splice|KIF13B_uc010lvf.1_Splice_Site_p.G42_splice	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	106	Kinesin-motor.				T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TTCCAGAGCCTAAAAAAATGG	0.393													-	29043992	A	-	29043992	8	5	49	1	0	1	0	1	0	0	1	0	8275	377	13	0		0	KIF13B	8	29043992	Splice_Site	DEL	A	TCGA-BR-7707-01A-11D-2053-08	137457	29043992	117320030	674	39555											
DCTN6	10671	broad.mit.edu	37	chr8	30032612	30032612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaacaggacctcggacaGtgatccaccctaaagcaaga	8	11	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:30032612G>A	uc003xhy.2	+	3	187	c.100G>A	c.(100-102)GTG>ATG	p.V34M		NM_006571	NP_006562	O00399	DCTN6_HUMAN	dynactin 6	34						centrosome	transferase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		ACCTCGGACAGTGATCCACCC	0.458													A	30032612	G	A	30032612	3	1	49	1	0	0	0	0	1	0	0	0	4311	1029	36	4	110	4	DCTN6	8	30032612	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	988620	30032612	116331410	675	39556											
WRN	7486	broad.mit.edu	37	chr8	30969166	30969166	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttactgctactgcaagttcTtcaatccgggaagacattgt	8	10	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:30969166T>C	uc003xio.3	+	19	2912	c.2124T>C	c.(2122-2124)TCT>TCC	p.S708S	WRN_uc010lvk.2_Silent_p.S175S	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	708	Helicase ATP-binding.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTGCAAGTTCTTCAATCCGGG	0.388			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				C	30969166	T	C	30969166	2	2	49	1	0	0	0	0	0	0	0	1	17399	1596	56	3		3	WRN	8	30969166	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	936554	30969166	115394856	676	39557											
WRN	7486	broad.mit.edu	37	chr8	30982058	30982058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccttcttactgagatacGtaatgagaagtttcgattat	8	7	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:30982058G>A	uc003xio.3	+	22	3439	c.2651G>A	c.(2650-2652)CGT>CAT	p.R884H	WRN_uc010lvk.2_Missense_Mutation_p.R351H	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	884	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ACTGAGATACGTAATGAGAAG	0.289			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				A	30982058	G	A	30982058	3	1	49	1	0	0	0	0	1	0	0	0	17399	1145	40	1	2733	1	WRN	8	30982058	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	12892	30982058	115381964	677	39558											
C8orf41	80185	broad.mit.edu	37	chr8	33369574	33369574	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggaatcctgccacagaAccgcattcagtaacttgaag	9	10	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:33369574A>G	uc003xjl.3	-	1	1083	c.558T>C	c.(556-558)GGT>GGC	p.G186G	C8orf41_uc003xjk.3_Silent_p.G186G|C8orf41_uc010lvv.2_Silent_p.G186G|C8orf41_uc003xjm.3_Silent_p.G186G|C8orf41_uc003xjn.1_Silent_p.G186G	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	hypothetical protein LOC80185	186							binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		CTGCCACAGAACCGCATTCAG	0.493													G	33369574	A	G	33369574	2	3	49	1	0	0	0	0	0	0	0	1	2427	30	2	3		3	C8orf41	8	33369574	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	2387516	33369574	112994448	678	39559											
UNC5D	137970	broad.mit.edu	37	chr8	35606112	35606112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcctccagacatgatcGtcaccactccctttgcattg	8	14	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:35606112G>A	uc003xjr.1	+	12	2162	c.1834G>A	c.(1834-1836)GTC>ATC	p.V612I	UNC5D_uc003xjs.1_Missense_Mutation_p.V607I|UNC5D_uc003xju.1_Missense_Mutation_p.V188I	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	612	ZU5.|Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGACATGATCGTCACCACTCC	0.493													A	35606112	G	A	35606112	3	1	49	1	0	0	0	0	1	0	0	0	16992	1145	40	1	1880	1	UNC5D	8	35606112	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2236538	35606112	110757910	679	39560											
STAR	6770	broad.mit.edu	37	chr8	38006175	38006175	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaccgagtagagagctccgCcgccgaacctggttaatcca	10	13	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:38006175C>T	uc003xkv.1	-	2	426	c.162G>A	c.(160-162)CGG>CGA	p.R54R	STAR_uc010lwc.1_Intron	NM_001007243	NP_001007244	P49675	STAR_HUMAN	steroidogenic acute regulatory protein isoform	54					C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			ovary(1)	1	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GAGAGCTCCGCCGCCGAACCT	0.647													T	38006175	C	T	38006175	2	4	49	1	0	0	0	0	0	0	0	1	15253	726	26	2		2	STAR	8	38006175	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2400063	38006175	108357847	680	39561											
TACC1	6867	broad.mit.edu	37	chr8	38684796	38684796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagaaatcagctggtgcCgaggtgaaaggtgagccaga	16	7	2	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:38684796C>T	uc010lwp.2	+	5	1942	c.1563C>T	c.(1561-1563)GCC>GCT	p.A521A	TACC1_uc011lby.1_Silent_p.A326A|TACC1_uc003xma.2_5'UTR|TACC1_uc003xlz.2_Silent_p.A326A|TACC1_uc003xmc.3_Silent_p.A325A|TACC1_uc011lbz.1_Silent_p.A537A|TACC1_uc003xmb.3_Silent_p.A476A|TACC1_uc003xme.1_Silent_p.A95A|TACC1_uc003xmd.1_Silent_p.A83A|TACC1_uc010lwo.1_Silent_p.A83A|TACC1_uc003xmf.3_Silent_p.A111A|TACC1_uc011lca.1_Silent_p.A533A|TACC1_uc011lcb.1_Silent_p.A326A|TACC1_uc011lcc.1_Silent_p.A326A|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Silent_p.A338A|TACC1_uc010lwq.2_Silent_p.A338A	NM_006283	NP_006274	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing	521					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			ovary(1)	1		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CAGCTGGTGCCGAGGTGAAAG	0.468													T	38684796	C	T	38684796	2	4	49	1	0	0	0	0	0	0	0	1	15498	639	23	1		1	TACC1	8	38684796	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	678621	38684796	107679226	681	39562											
ANK1	286	broad.mit.edu	37	chr8	41572500	41572500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttcaaactcacttttccGgcagcattcgggtgtgcgtc	12	11	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:41572500G>A	uc003xok.2	-	15	1779	c.1695C>T	c.(1693-1695)GCC>GCT	p.A565A	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.A565A|ANK1_uc003xoj.2_Silent_p.A565A|ANK1_uc003xol.2_Silent_p.A565A|ANK1_uc003xom.2_Silent_p.A598A	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	565	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCACTTTTCCGGCAGCATTCG	0.587													A	41572500	G	A	41572500	2	1	49	1	0	0	0	0	0	0	0	1	620	1103	39	1		1	ANK1	8	41572500	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2887704	41572500	104791522	682	39563											
ANK1	286	broad.mit.edu	37	chr8	41573238	41573238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttccacatggccctcacGggctgcaatgtgcagggggg	15	11	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:41573238G>A	uc003xok.2	-	14	1618	c.1534C>T	c.(1534-1536)CGT>TGT	p.R512C	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.R512C|ANK1_uc003xoj.2_Missense_Mutation_p.R512C|ANK1_uc003xol.2_Missense_Mutation_p.R512C|ANK1_uc003xom.2_Missense_Mutation_p.R545C	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	512	ANK 15.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGCCCTCACGGGCTGCAATG	0.607													A	41573238	G	A	41573238	3	1	49	1	0	0	0	0	1	0	0	0	620	1116	39	1	4581	1	ANK1	8	41573238	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	738	41573238	104790784	683	39564											
MYST3	7994	broad.mit.edu	37	chr8	41834766	41834766	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttctgatgatgatgatgCtgattggctggaaagagtga	13	4	2	7			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:41834766C>A	uc010lxb.2	-	8	1667	c.1123G>T	c.(1123-1125)GCA>TCA	p.A375S	MYST3_uc010lxc.2_Missense_Mutation_p.A375S|MYST3_uc003xon.3_Missense_Mutation_p.A375S|MYST3_uc010lxd.2_Missense_Mutation_p.A375S	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	375	Poly-Ser.|Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			GATGATGATGCTGATTGGCTG	0.428													A	41834766	C	A	41834766	3	1	49	1	0	0	0	0	1	0	0	0	10104	797	28	5	4935	5	MYST3	8	41834766	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	261528	41834766	104529256	684	39565											
IKBKB	3551	broad.mit.edu	37	chr8	42173805	42173805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaggggcacggatcccaCgtatgggcccaatggctgct	14	12	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:42173805C>T	uc003xow.1	+	10	1055	c.878C>T	c.(877-879)ACG>ATG	p.T293M	IKBKB_uc003xov.2_Missense_Mutation_p.T293M|IKBKB_uc010lxh.1_Missense_Mutation_p.T188M|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.T70M|IKBKB_uc003xox.1_Missense_Mutation_p.T14M|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.T291M|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.T234M	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	293	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	ACGGATCCCACGTATGGGCCC	0.572													T	42173805	C	T	42173805	3	4	49	1	0	0	0	0	1	0	0	0	7611	536	19	1	912	1	IKBKB	8	42173805	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	339039	42173805	104190217	685	39566											
PRKDC	5591	broad.mit.edu	37	chr8	48746928	48746928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgggtcagtgctgctccCggtcagccaatcaaatgagc	12	13	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:48746928C>T	uc003xqi.2	-	60	8038	c.7981G>A	c.(7981-7983)GGG>AGG	p.G2661R	PRKDC_uc003xqj.2_Missense_Mutation_p.G2661R|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2661	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTGCTGCTCCCGGTCAGCCAA	0.562								NHEJ					T	48746928	C	T	48746928	3	4	49	1	0	0	0	0	1	0	0	0	12521	652	23	1	4517	1	PRKDC	8	48746928	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	6573123	48746928	97617094	686	39567											
MCM4	4173	broad.mit.edu	37	chr8	48883979	48883979	+	Frame_Shift_Del	DEL	A	A	-													ttgagtctcagtggaatcctAaaaaaacaaccattgaaaac							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:48883978_48883978TA>T	uc003xqk.2	+	12	2704	c.1878_1878TA>T	c.(1876-1878)cctfs	p.P626fs	MCM4_uc003xql.2_Frame_Shift_Del_p.P626fs|MCM4_uc011ldi.2_Frame_Shift_Del_p.P613fs	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	626	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AGTGGAATCCTAAAAAAACAA	0.408													-	48883979	A	-	48883979	7	5	49	1	0	1	0	1	0	0	0	0	9389	363	13	0	1925	0	MCM4	8	48883979	Frame_Shift_Del	DEL	A	TCGA-BR-7707-01A-11D-2053-08	137051	48883979	97480043	687	39568											
MCM4	4173	broad.mit.edu	37	chr8	48887453	48887453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaggccaaacgcctccatCgggaagctctgaagcagtct	11	12	2	2	rs149597772		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:48887453C>T	uc003xqk.1	+	15	2391	c.2296C>T	c.(2296-2298)CGG>TGG	p.R766W	MCM4_uc003xql.1_Missense_Mutation_p.R766W|MCM4_uc011ldi.1_Missense_Mutation_p.R753W	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	766					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ACGCCTCCATCGGGAAGCTCT	0.453													T	48887453	C	T	48887453	3	4	49	1	0	0	0	0	1	0	0	0	9389	875	31	1	2350	1	MCM4	8	48887453	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3474	48887453	97476569	688	39569											
NPBWR1	2831	broad.mit.edu	37	chr8	53852656	53852656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtgctgtacgtgttgctGcgggcgccccgcatgaagac	15	13	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:53852656G>A	uc011ldu.1	+	1	189	c.189G>A	c.(187-189)CTG>CTA	p.L63L		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	63	Cytoplasmic (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				ACGTGTTGCTGCGGGCGCCCC	0.667													A	53852656	G	A	53852656	2	1	49	1	0	0	0	0	0	0	0	1	10568	1306	46	2		2	NPBWR1	8	53852656	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4965203	53852656	92511366	689	39570											
OPRK1	4986	broad.mit.edu	37	chr8	54141891	54141891	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcccatcgatgtccctcAggtaagcaggatcctgaact	8	13	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:54141891A>G	uc003xrh.1	-	3	1484	c.1109T>C	c.(1108-1110)CTG>CCG	p.L370P	OPRK1_uc003xri.1_Missense_Mutation_p.L370P|OPRK1_uc010lyc.1_Missense_Mutation_p.L281P	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	370	Cytoplasmic (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GATGTCCCTCAGGTAAGCAGG	0.478													G	54141891	A	G	54141891	3	3	49	1	0	0	0	0	1	0	0	0	10885	188	7	3	37	3	OPRK1	8	54141891	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	289235	54141891	92222131	690	39571											
XKR4	114786	broad.mit.edu	37	chr8	56015076	56015076	+	Frame_Shift_Del	DEL	A	A	-													ctaaatcagacgggaggctgAaaatgaagaaaagcagcgac							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:56015075_56015075GA>G	uc003xsf.3	+	0	59	c.27_27GA>G	c.(25-27)ctgfs	p.L9fs		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	9						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			ACGGGAGGCTGAAAATGAAGA	0.627													-	56015076	A	-	56015076	7	5	49	1	0	1	0	1	0	0	0	0	17430	247	9	0	30	0	XKR4	8	56015076	Frame_Shift_Del	DEL	A	TCGA-BR-7707-01A-11D-2053-08	1873185	56015076	90348946	691	39572											
MOS	4342	broad.mit.edu	37	chr8	57025820	57025820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgcggtgggtgtatgtgCctcctagagggtaagagggt	20	6	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:57025820C>T	uc011leb.1	-	1	722	c.722G>A	c.(721-723)GGC>GAC	p.G241D		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	241	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			GGTGTATGTGCCTCCTAGAGG	0.517													T	57025820	C	T	57025820	3	4	49	1	0	0	0	0	1	0	0	0	9712	739	26	2	321	2	MOS	8	57025820	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1010744	57025820	89338202	692	39573											
CHD7	55636	broad.mit.edu	37	chr8	61654351	61654351	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccatggtggcagtggtggCggtcagatgggtgtctaccc	16	11	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:61654351C>T	uc003xue.2	+	2	837	c.360C>T	c.(358-360)GGC>GGT	p.G120G		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	120					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GCAGTGGTGGCGGTCAGATGG	0.607													T	61654351	C	T	61654351	2	4	49	1	0	0	0	0	0	0	0	1	3330	755	27	1		1	CHD7	8	61654351	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	4628531	61654351	84709671	693	39574											
RRS1	23212	broad.mit.edu	37	chr8	67342063	67342063	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtctccaccgcctctgtgGggcgctttcaggagcgcctc	13	15	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:67342063G>T	uc003xwa.2	+	1	801	c.697G>T	c.(697-699)GGG>TGG	p.G233W	ADHFE1_uc003xwb.3_5'Flank|ADHFE1_uc003xwd.3_5'Flank|ADHFE1_uc003xwc.3_5'Flank|ADHFE1_uc003xwe.3_5'Flank|ADHFE1_uc003xwf.3_5'Flank|ADHFE1_uc011les.1_5'Flank|ADHFE1_uc011leq.1_5'Flank|ADHFE1_uc011ler.1_5'Flank	NM_015169	NP_055984	Q15050	RRS1_HUMAN	homolog of yeast ribosome biogenesis regulatory	233					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus					0		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CGCCTCTGTGGGGCGCTTTCA	0.642													T	67342063	G	T	67342063	3	4	49	1	0	0	0	0	1	0	0	0	13692	1232	43	5	699	5	RRS1	8	67342063	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	5687712	67342063	79021959	694	39575											
ARFGEF1	10565	broad.mit.edu	37	chr8	68128856	68128857	+	Frame_Shift_Ins	INS	-	-	G													acttacaggagatggaggtgINSggggggcagtttctccagaa					rs142098461		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:68128855_68128856T>TG	uc003xxo.2	-	32	5045_5046	c.4655_4656A>CA	c.(4654-4656)ccafs	p.P1552fs	ARFGEF1_uc003xxl.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_uc003xxn.2_Frame_Shift_Ins_p.P535fs	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421													G	68128857	-	G	68128856	7	5	49	1	0	1	1	0	0	0	0	0	852	1348	47	0	922	0	ARFGEF1	8	68128856	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	786793	68128856	78235166	695	39576											
ARFGEF1	10565	broad.mit.edu	37	chr8	68140265	68140265	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttattcttcccatgttgTaatatgatatttctactatt	3	7	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:68140265T>C	uc003xxo.1	-	25	3914	c.3524A>G	c.(3523-3525)TAC>TGC	p.Y1175C	ARFGEF1_uc003xxl.1_Missense_Mutation_p.Y629C|ARFGEF1_uc003xxn.1_Missense_Mutation_p.Y158C	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1175					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCCCATGTTGTAATATGATAT	0.333													C	68140265	T	C	68140265	3	2	49	1	0	0	0	0	1	0	0	0	852	1638	57	3	2085	3	ARFGEF1	8	68140265	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	11409	68140265	78223757	696	39577											
PREX2	80243	broad.mit.edu	37	chr8	69033268	69033268	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cggactcttgctcagaacatCaggaaatttgttgaaggtca	10	8	4	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:69033268C>T	uc003xxv.1	+	30	3735	c.3708C>T	c.(3706-3708)ATC>ATT	p.I1236I		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1236					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CTCAGAACATCAGGAAATTTG	0.398													T	69033268	C	T	69033268	2	4	49	1	0	0	0	0	0	0	0	1	12477	816	29	4		4	PREX2	8	69033268	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	893003	69033268	77330754	697	39578											
KCNB2	9312	broad.mit.edu	37	chr8	73480092	73480092	+	Frame_Shift_Del	DEL	G	G	-													aggagagttaagatcaatgtGgggggcctcaaccacgaagt							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:73480091_73480091TG>T	uc003xzb.3	+	1	710	c.122_122TG>T	c.(121-123)gtgfs	p.V41fs		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	41					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AAGATCAATGTGGGGGGCCTC	0.562													-	73480092	G	-	73480092	7	5	49	1	0	1	0	1	0	0	0	0	8013	1335	47	0	125	0	KCNB2	8	73480092	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	4446824	73480092	72883930	698	39579											
TERF1	7013	broad.mit.edu	37	chr8	73934527	73934527	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaatatttggtgatccaaAttctcatatggtaattattt	6	4	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:73934527A>C	uc003xzd.2	+	4	639	c.614A>C	c.(613-615)AAT>ACT	p.N205T	TERF1_uc003xze.2_Missense_Mutation_p.N205T	NM_017489	NP_059523	P54274	TERF1_HUMAN	telomeric repeat binding factor 1 isoform 1	205	TRFH dimerization.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			ovary(1)|lung(1)|skin(1)	3	Breast(64;0.218)		Epithelial(68;0.0984)			GGTGATCCAAATTCTCATATG	0.299													C	73934527	A	C	73934527	3	2	49	1	0	0	0	0	1	0	0	0	15758	101	4	5	628	5	TERF1	8	73934527	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	454435	73934527	72429495	699	39580											
ZFHX4	79776	broad.mit.edu	37	chr8	77764144	77764144	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtaaacagcaaagatAcccatttagatgccaaagaa	7	9	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:77764144A>G	uc003yav.2	+	10	5239	c.4852A>G	c.(4852-4854)ACC>GCC	p.T1618A	ZFHX4_uc003yau.1_Missense_Mutation_p.T1663A|ZFHX4_uc003yaw.1_Missense_Mutation_p.T1618A	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1618						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCAAAGATACCCATTTAGA	0.448										HNSCC(33;0.089)			G	77764144	A	G	77764144	3	3	49	1	0	0	0	0	1	0	0	0	17632	391	14	3	5021	3	ZFHX4	8	77764144	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	3829617	77764144	68599878	700	39581											
CNGB3	54714	broad.mit.edu	37	chr8	87683188	87683188	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccagtttgtgggctggcTtcgggtgaggagagatctcc	15	8	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:87683188T>G	uc003ydx.2	-	4	523	c.477A>C	c.(475-477)GAA>GAC	p.E159D	CNGB3_uc010maj.2_Missense_Mutation_p.E21D	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	159	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						GTGGGCTGGCTTCGGGTGAGG	0.453													G	87683188	T	G	87683188	3	3	49	1	0	0	0	0	1	0	0	0	3601	1606	56	5	2012	5	CNGB3	8	87683188	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	9919044	87683188	58680834	701	39582											
CNBD1	168975	broad.mit.edu	37	chr8	87951895	87951895	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taacaatatagctgtccatgTtcagagagcacatggtggcc	10	9	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:87951895T>G	uc003ydy.2	+	4	392	c.344T>G	c.(343-345)GTT>GGT	p.V115G		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	115										ovary(3)	3						GCTGTCCATGTTCAGAGAGCA	0.333													G	87951895	T	G	87951895	3	3	49	1	0	0	0	0	1	0	0	0	3591	1725	60	5	358	5	CNBD1	8	87951895	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	268707	87951895	58412127	702	39583											
MMP16	4325	broad.mit.edu	37	chr8	89128860	89128861	+	Frame_Shift_Ins	INS	-	-	T													aggaggttttggcctgtcatINSttttccttgggtcagccgga							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:89128859_89128860A>AT	uc003yeb.4	-	5	1241_1242	c.959_960T>AT	c.(958-960)aatfs	p.N320fs		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	320					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TTGGCCTGTCATTTTTCCTTGG	0.52													T	89128861	-	T	89128860	7	5	49	1	0	1	1	0	0	0	0	0	9655	1493	52	0	1040	0	MMP16	8	89128860	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	1176965	89128860	57235162	703	39584											
TMEM64	169200	broad.mit.edu	37	chr8	91643788	91643788	+	Frame_Shift_Del	DEL	A	A	-													ccttaaactcacctgtaaacAaaaaacaaaatatccactaa							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:91643787_91643787CA>C	uc003yen.2	-	1	944	c.944_944TG>G	c.(943-945)tgtfs	p.C315fs	TMEM64_uc003yeo.2_Frame_Shift_Del_p.C54fs|TMEM64_uc011lgf.1_Intron	NM_001008495	NP_001008495	Q6YI46	TMM64_HUMAN	Homo sapiens transmembrane protein 64 (TMEM64), transcript variant 1, mRNA.	315						integral to membrane				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			CACCTGTAAACAAAAAACAAA	0.388													-	91643788	A	-	91643788	7	5	49	1	0	1	0	1	0	0	0	0	16190	130	5	0	207	0	TMEM64	8	91643788	Frame_Shift_Del	DEL	A	TCGA-BR-7707-01A-11D-2053-08	2514928	91643788	54720234	704	39585											
RBM12B	389677	broad.mit.edu	37	chr8	94746270	94746270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgaaatgctcctgaggcGgccgcctgaaatgctcctgg	13	13	0	3	rs17853904		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:94746270G>A	uc003yfz.2	-	3	2562	c.2369C>T	c.(2368-2370)CCG>CTG	p.P790L		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	790							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CTCCTGAGGCGGCCGCCTGAA	0.647													A	94746270	G	A	94746270	3	1	49	1	0	0	0	0	1	0	0	0	13114	1116	39	1	640	1	RBM12B	8	94746270	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	3102482	94746270	51617752	705	39586											
RAD54B	25788	broad.mit.edu	37	chr8	95419749	95419749	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacttggtttacaaacactTttgaaagggttagagaaaca	9	5	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:95419749T>G	uc003ygk.2	-	5	797	c.699A>C	c.(697-699)AAA>AAC	p.K233N	RAD54B_uc010may.1_Missense_Mutation_p.K40N|RAD54B_uc003ygl.1_RNA	NM_012415	NP_036547	O95073	FSBP_HUMAN	RAD54 homolog B	Error:Variant_position_missing_in_O95073_after_alignment					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			kidney(2)|lung(1)|skin(1)	4	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TACAAACACTTTTGAAAGGGT	0.393								Direct_reversal_of_damage|Homologous_recombination					G	95419749	T	G	95419749	3	3	49	1	0	0	0	0	1	0	0	0	12992	1838	64	5	2077	5	RAD54B	8	95419749	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	673479	95419749	50944273	706	39587											
OSR2	116039	broad.mit.edu	37	chr8	99961546	99961546	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgactttgccaatttggcGgtggctgccacgcaagagga	13	9	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:99961546G>A	uc003yir.2	+	2	901	c.366G>A	c.(364-366)GCG>GCA	p.A122A	OSR2_uc010mbn.2_Silent_p.A122A|OSR2_uc003yiq.2_Silent_p.A122A|OSR2_uc011lgx.1_Silent_p.A243A	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	122					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CCAATTTGGCGGTGGCTGCCA	0.607													A	99961546	G	A	99961546	2	1	49	1	0	0	0	0	0	0	0	1	11294	1103	39	1		1	OSR2	8	99961546	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4541797	99961546	46402476	707	39588											
VPS13B	157680	broad.mit.edu	37	chr8	100050671	100050671	+	Frame_Shift_Del	DEL	T	T	-													gaactgaaattaccattcacTtttttaagtggacatattca							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:100050670_100050670CT>C	uc003yiv.3	+	2	278	c.167_167CT>C	c.(166-168)actfs	p.T56fs	VPS13B_uc003yiw.3_Frame_Shift_Del_p.T56fs|VPS13B_uc003yit.3_Frame_Shift_Del_p.T56fs|VPS13B_uc003yiu.1_Frame_Shift_Del_p.T56fs|VPS13B_uc003yis.3_Frame_Shift_Del_p.T56fs|VPS13B_uc011lgy.2_5'UTR	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	56					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTACCATTCACTTTTTTAAGT	0.269													-	100050671	T	-	100050671	7	5	49	1	0	1	0	1	0	0	0	0	17187	1596	56	0	174	0	VPS13B	8	100050671	Frame_Shift_Del	DEL	T	TCGA-BR-7707-01A-11D-2053-08	89125	100050671	46313351	708	39589											
VPS13B	157680	broad.mit.edu	37	chr8	100115270	100115270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatgttgaagatgatatcGtcctttccgtcaatatcact	6	8	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:100115270G>A	uc003yiv.2	+	5	613	c.502G>A	c.(502-504)GTC>ATC	p.V168I	VPS13B_uc003yiw.2_Missense_Mutation_p.V168I|VPS13B_uc003yit.2_Missense_Mutation_p.V168I|VPS13B_uc003yiu.1_Missense_Mutation_p.V168I|VPS13B_uc003yis.2_Missense_Mutation_p.V168I|VPS13B_uc011lgy.1_Missense_Mutation_p.V44I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	168					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGATGATATCGTCCTTTCCGT	0.328													A	100115270	G	A	100115270	3	1	49	1	0	0	0	0	1	0	0	0	17187	1145	40	1	516	1	VPS13B	8	100115270	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	64599	100115270	46248752	709	39590											
VPS13B	157680	broad.mit.edu	37	chr8	100523354	100523354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactacaaaacttctagatgGcactcatcagcagcatggat	7	10	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:100523354G>A	uc003yiv.2	+	29	4433	c.4322G>A	c.(4321-4323)GGC>GAC	p.G1441D	VPS13B_uc003yiw.2_Missense_Mutation_p.G1416D|VPS13B_uc003yix.1_Missense_Mutation_p.G911D	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1441					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTTCTAGATGGCACTCATCAG	0.338													A	100523354	G	A	100523354	3	1	49	1	0	0	0	0	1	0	0	0	17187	1203	42	2	4626	2	VPS13B	8	100523354	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	408084	100523354	45840668	710	39591											
RGS22	26166	broad.mit.edu	37	chr8	101075899	101075900	+	Frame_Shift_Ins	INS	-	-	A													agtttgaactaattcacttaINSaaaaattcttgccatgaata							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:101075898_101075899T>TA	uc003yjb.1	-	7	1292_1293	c.1097_1098A>TA	c.(1096-1098)ttafs	p.L366fs	RGS22_uc003yja.1_Frame_Shift_Ins_p.L185fs|RGS22_uc003yjc.1_Frame_Shift_Ins_p.L354fs|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Frame_Shift_Ins_p.L270fs	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	366					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTAATTCACTTAAAAAATTCTT	0.376													A	101075900	-	A	101075899	7	5	49	1	0	1	1	0	0	0	0	0	13305	372	13	0	2777	0	RGS22	8	101075899	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	552545	101075899	45288123	711	39592											
OXR1	55074	broad.mit.edu	37	chr8	107719362	107719362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaaattacatctgctgatgGacacatagaaagtaagtgtt	8	5	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:107719362G>A	uc011lht.1	+	8	1715	c.1616G>A	c.(1615-1617)GGA>GAA	p.G539E	OXR1_uc003ymf.2_Missense_Mutation_p.G538E|OXR1_uc011lhu.1_Missense_Mutation_p.G531E|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_Missense_Mutation_p.G236E|OXR1_uc003ymg.1_Missense_Mutation_p.G471E|OXR1_uc003ymi.1_Missense_Mutation_p.G450E	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	539					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TCTGCTGATGGACACATAGAA	0.368													A	107719362	G	A	107719362	3	1	49	1	0	0	0	0	1	0	0	0	11334	1174	41	4	1846	4	OXR1	8	107719362	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	6643463	107719362	38644660	712	39593											
PKHD1L1	93035	broad.mit.edu	37	chr8	110474074	110474074	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaccaatttggaggctgCgttatgtttcatgctcctgt	11	8	1	1	rs149284269	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:110474074C>T	uc003yne.2	+	48	7424	c.7320C>T	c.(7318-7320)TGC>TGT	p.C2440C		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2440	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.C2442C(1)		ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGGAGGCTGCGTTATGTTTC	0.403										HNSCC(38;0.096)			T	110474074	C	T	110474074	2	4	49	1	0	0	0	0	0	0	0	1	11972	776	27	1		1	PKHD1L1	8	110474074	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2754712	110474074	35889948	713	39594											
COL14A1	7373	broad.mit.edu	37	chr8	121379471	121379472	+	Frame_Shift_Ins	INS	-	-	C													gaacccaaggtccaagaggcINSccccctggaccagcaggtaa							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:121379470_121379471G>GC	uc003yox.3	+	45	5403_5404	c.5138_5139G>GC	c.(5137-5139)ggcfs	p.G1713fs	COL14A1_uc003yoz.3_Frame_Shift_Ins_p.G678fs	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1713	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGTCCAAGAGGCCCCCCTGGAC	0.371													C	121379472	-	C	121379471	7	5	49	1	0	1	1	0	0	0	0	0	3671	726	26	0	5317	0	COL14A1	8	121379471	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	10905397	121379471	24984551	714	39595											
HAS2	3037	broad.mit.edu	37	chr8	122627114	122627114	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaattcttgattgtaccaAtcttccacaaactcatgcaa	3	10	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:122627114A>C	uc003yph.2	-	4	1432	c.894T>G	c.(892-894)GAT>GAG	p.D298E		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	298	Cytoplasmic (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GATTGTACCAATCTTCCACAA	0.448													C	122627114	A	C	122627114	3	2	49	1	0	0	0	0	1	0	0	0	6962	98	4	5	768	5	HAS2	8	122627114	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1247643	122627114	23736908	715	39596											
ZHX2	22882	broad.mit.edu	37	chr8	123965292	123965292	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaccagttggccatcgcGgcctcccgacacggtcgcac	11	16	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:123965292G>A	uc003ypk.1	+	3	2109	c.1542G>A	c.(1540-1542)GCG>GCA	p.A514A		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	514						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TGGCCATCGCGGCCTCCCGAC	0.537													A	123965292	G	A	123965292	2	1	49	1	0	0	0	0	0	0	0	1	17673	1103	39	1		1	ZHX2	8	123965292	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1338178	123965292	22398730	716	39597											
ANXA13	312	broad.mit.edu	37	chr8	124696861	124696861	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcttacctcggccctggTcacgactatgcgaatcaacg	10	13	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:124696861T>C	uc003yqu.2	-	10	893	c.820A>G	c.(820-822)ACC>GCC	p.T274A	ANXA13_uc003yqt.2_Missense_Mutation_p.T315A	NM_004306	NP_004297	P27216	ANX13_HUMAN	annexin A13 isoform a	274	Annexin 4.				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TCGGCCCTGGTCACGACTATG	0.502													C	124696861	T	C	124696861	3	2	49	1	0	0	0	0	1	0	0	0	717	1667	58	3	138	3	ANXA13	8	124696861	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	731569	124696861	21667161	717	39598											
ASAP1	50807	broad.mit.edu	37	chr8	131124486	131124486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgctgaatcctggcagtGccagcttgtcctggggggag	17	9	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:131124486G>A	uc003yta.1	-	23	2283	c.2255C>T	c.(2254-2256)GCA>GTA	p.A752V	ASAP1_uc003ysz.1_Missense_Mutation_p.A563V|ASAP1_uc011liw.1_Missense_Mutation_p.A745V	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	752					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						TCCTGGCAGTGCCAGCTTGTC	0.552													A	131124486	G	A	131124486	3	1	49	1	0	0	0	0	1	0	0	0	1010	1319	46	2	1162	2	ASAP1	8	131124486	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	6427625	131124486	15239536	718	39599											
KCNQ3	3786	broad.mit.edu	37	chr8	133150155	133150155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgaaggtactttatcctGgaaagcatgtcgagatgccc	11	9	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:133150155G>A	uc003ytj.2	-	12	1902	c.1677C>T	c.(1675-1677)TCC>TCT	p.S559S	KCNQ3_uc010mdt.2_Silent_p.S559S	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	559					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ACTTTATCCTGGAAAGCATGT	0.458													A	133150155	G	A	133150155	2	1	49	1	0	0	0	0	0	0	0	1	8084	1335	47	4		4	KCNQ3	8	133150155	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2025669	133150155	13213867	719	39600											
KCNQ3	3786	broad.mit.edu	37	chr8	133192508	133192508	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcgcaggcttcgcagggAggtggccagaacattgcctt	15	10	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:133192508A>G	uc003ytj.2	-	4	898	c.673T>C	c.(673-675)TCC>CCC	p.S225P	KCNQ3_uc010mdt.2_Missense_Mutation_p.S225P	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	225					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTTCGCAGGGAGGTGGCCAGA	0.597													G	133192508	A	G	133192508	3	3	49	1	0	0	0	0	1	0	0	0	8084	304	11	3	1993	3	KCNQ3	8	133192508	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	42353	133192508	13171514	720	39601											
PHF20L1	51105	broad.mit.edu	37	chr8	133836255	133836255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccctaacccacaggaatatCgaaaacagaaaaaaaagtga	6	10	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:133836255C>T	uc003ytt.2	+	13	1911	c.1586C>T	c.(1585-1587)TCG>TTG	p.S529L	PHF20L1_uc003yts.2_Missense_Mutation_p.S529L|PHF20L1_uc011lja.1_Missense_Mutation_p.S503L|PHF20L1_uc003ytu.1_RNA	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	529							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ACAGGAATATCGAAAACAGAA	0.303													T	133836255	C	T	133836255	3	4	49	1	0	0	0	0	1	0	0	0	11832	893	31	1	1638	1	PHF20L1	8	133836255	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	643747	133836255	12527767	721	39602											
TG	7038	broad.mit.edu	37	chr8	133883659	133883659	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctacattaacagcacagacaCctcctacctccctcagtgtc	4	17	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:133883659C>G	uc003ytw.2	+	4	382	c.341C>G	c.(340-342)ACC>AGC	p.T114S		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	114	Thyroglobulin type-1 2.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCACAGACACCTCCTACCTC	0.517													G	133883659	C	G	133883659	3	3	49	1	0	0	0	0	1	0	0	0	15810	507	18	5	355	5	TG	8	133883659	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	47404	133883659	12480363	722	39603											
TG	7038	broad.mit.edu	37	chr8	133953742	133953742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtcttcttgcatgcgacCgtgatctgtgttgcgatggc	12	10	4	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:133953742C>T	uc003ytw.2	+	26	5229	c.5188C>T	c.(5188-5190)CGT>TGT	p.R1730C	TG_uc010mdw.2_Missense_Mutation_p.R489C|TG_uc011ljb.1_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1730	Type IIIB.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGCATGCGACCGTGATCTGTG	0.517													T	133953742	C	T	133953742	3	4	49	1	0	0	0	0	1	0	0	0	15810	652	23	1	5290	1	TG	8	133953742	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	70083	133953742	12410280	723	39604											
SLA	6503	broad.mit.edu	37	chr8	134050798	134050798	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtaaggtggtgatgagaAgaatgagctctttctcttgc	12	5	2	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:134050798A>C	uc003ytz.2	-	9	1634	c.802T>G	c.(802-804)TTC>GTC	p.F268V	TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Missense_Mutation_p.F285V|SLA_uc011ljf.1_Missense_Mutation_p.F160V|SLA_uc011ljg.1_Missense_Mutation_p.F241V|SLA_uc011ljd.1_Missense_Mutation_p.F308V	NM_001045556	NP_001039021	Q13239	SLAP1_HUMAN	Src-like-adaptor isoform a	268	SLA C-terminal.					endosome	SH3/SH2 adaptor activity			lung(1)|liver(1)	2	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			GGTGATGAGAAGAATGAGCTC	0.463													C	134050798	A	C	134050798	3	2	49	1	0	0	0	0	1	0	0	0	14363	72	3	5	32	5	SLA	8	134050798	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	97056	134050798	12313224	724	39605											
ZFAT	57623	broad.mit.edu	37	chr8	135614834	135614834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgtcctgtgggtcatgCgcgtctcggatgtgcttgat	13	9	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:135614834C>T	uc003yup.2	-	6	1303	c.1128G>A	c.(1126-1128)GCG>GCA	p.A376A	ZFAT_uc003yun.2_Silent_p.A364A|ZFAT_uc003yuo.2_Silent_p.A364A|ZFAT_uc010meh.2_Silent_p.A364A|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.A364A|ZFAT_uc010mej.2_Silent_p.A314A|ZFAT_uc003yur.2_Silent_p.A364A	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	376	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGGGTCATGCGCGTCTCGGA	0.552													T	135614834	C	T	135614834	2	4	49	1	0	0	0	0	0	0	0	1	17629	755	27	1		1	ZFAT	8	135614834	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1564036	135614834	10749188	725	39606											
COL22A1	169044	broad.mit.edu	37	chr8	139833603	139833603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagcatctttcatggcacCcacagcgttgtactcgactg	9	13	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:139833603C>T	uc003yvd.2	-	7	1468	c.1021G>A	c.(1021-1023)GGT>AGT	p.G341S		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	341	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTCATGGCACCCACAGCGTTG	0.577										HNSCC(7;0.00092)			T	139833603	C	T	139833603	3	4	49	1	0	0	0	0	1	0	0	0	3681	623	22	4	4095	4	COL22A1	8	139833603	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	4218769	139833603	6530419	726	39607											
KCNK9	51305	broad.mit.edu	37	chr8	140630595	140630595	+	Frame_Shift_Del	DEL	T	T	-													taggcgatgggaagaggctgTtttttaatgtgcttggtgag							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:140630594_140630594GT>G	uc003yvf.1	-	1	1096	c.1032_1032AC>C	c.(1030-1032)aacfs	p.N344fs	KCNK9_uc003yvg.1_Frame_Shift_Del_p.N344fs|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	344						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GGAAGAGGCTGTTTTTTAATG	0.537													-	140630595	T	-	140630595	7	5	49	1	0	1	0	1	0	0	0	0	8072	1725	60	0	97	0	KCNK9	8	140630595	Frame_Shift_Del	DEL	T	TCGA-BR-7707-01A-11D-2053-08	796992	140630595	5733427	727	39608											
TSNARE1	203062	broad.mit.edu	37	chr8	143381988	143381988	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatcagccagctcggcAaacggggcctggggactctg	13	13	4	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:143381988A>G	uc003ywk.2	-	10	1267	c.1149T>C	c.(1147-1149)TTT>TTC	p.F383F	TSNARE1_uc011lju.1_Silent_p.F382F|TSNARE1_uc003ywj.2_Silent_p.F384F|TSNARE1_uc003ywl.3_Silent_p.F164F	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	383					vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCAGCTCGGCAAACGGGGCCT	0.562													G	143381988	A	G	143381988	2	3	49	1	0	0	0	0	0	0	0	1	16627	127	5	3		3	TSNARE1	8	143381988	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	2751393	143381988	2982034	728	39609											
TSNARE1	203062	broad.mit.edu	37	chr8	143425535	143425535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcaggtccacaacgtcGcggcgacagtagcccagcgc	12	15	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:143425535G>A	uc003ywk.2	-	4	655	c.537C>T	c.(535-537)CGC>CGT	p.R179R	TSNARE1_uc011lju.1_Silent_p.R179R|TSNARE1_uc003ywj.2_Silent_p.R179R|TSNARE1_uc003ywl.3_Intron	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	179					vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCACAACGTCGCGGCGACAGT	0.687													A	143425535	G	A	143425535	2	1	49	1	0	0	0	0	0	0	0	1	16627	1074	38	1		1	TSNARE1	8	143425535	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	43547	143425535	2938487	729	39610											
ARC	23237	broad.mit.edu	37	chr8	143694607	143694607	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgagctgctccagggtcttGggcagggggtggcgcaggaa	19	8	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:143694607G>T	uc003ywn.1	-	1	1227	c.1026C>A	c.(1024-1026)CCC>CCA	p.P342P		NM_015193	NP_056008	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated	342					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)	1	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CCAGGGTCTTGGGCAGGGGGT	0.677													T	143694607	G	T	143694607	2	4	49	1	0	0	0	0	0	0	0	1	841	1335	47	5		5	ARC	8	143694607	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	269072	143694607	2669415	730	39611											
MAPK15	225689	broad.mit.edu	37	chr8	144804319	144804319	+	Frame_Shift_Del	DEL	G	G	-													tctgccttgcagggtgcccaGgggggtgccagggctttgct							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:144804318_144804318AG>A	uc003yzj.3	+	13	1573	c.1532_1532AG>A	c.(1531-1533)cagfs	p.Q511fs		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	511					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGGGTGCCCAGGGGGGTGCC	0.667													-	144804319	G	-	144804319	7	5	49	1	0	1	0	1	0	0	0	0	9277	991	35	0	1587	0	MAPK15	8	144804319	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	1109712	144804319	1559703	731	39612											
EPPK1	83481	broad.mit.edu	37	chr8	144940356	144940356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacgtccacgggcacgcGgtggctgtgcacggggtcga	18	13	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:144940356G>A	uc003zaa.1	-	2	15089	c.15076C>T	c.(15076-15078)CGC>TGC	p.R5026C		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	5026	Plectin 64.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACGGGCACGCGGTGGCTGTGC	0.697													A	144940356	G	A	144940356	3	1	49	1	0	0	0	0	1	0	0	0	5190	1116	39	1	200	1	EPPK1	8	144940356	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	136037	144940356	1423666	732	39613											
PLEC	5339	broad.mit.edu	37	chr8	144991545	144991545	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacactgacatctccttgccCgtctcggggtccacgatgac	9	15	2	2	rs143548638	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:144991545C>A	uc003zaf.1	-	32	13025	c.12855G>T	c.(12853-12855)ACG>ACT	p.T4285T	PLEC_uc003zab.1_Silent_p.T4148T|PLEC_uc003zac.1_Silent_p.T4152T|PLEC_uc003zad.2_Silent_p.T4148T|PLEC_uc003zae.1_Silent_p.T4116T|PLEC_uc003zag.1_Silent_p.T4126T|PLEC_uc003zah.2_Silent_p.T4134T|PLEC_uc003zaj.2_Silent_p.T4175T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4285	Binding to intermediate filaments (By similarity).|Globular 2.|Plectin 27.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TCTCCTTGCCCGTCTCGGGGT	0.622													A	144991545	C	A	144991545	2	1	49	1	0	0	0	0	0	0	0	1	12052	639	23	5		5	PLEC	8	144991545	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	51189	144991545	1372477	733	39614											
PLEC	5339	broad.mit.edu	37	chr8	144993391	144993391	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcaagcccgtctcggggTcctccacgcaccgctccagc	12	19	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:144993391T>C	uc003zaf.1	-	32	11179	c.11009A>G	c.(11008-11010)GAC>GGC	p.D3670G	PLEC_uc003zab.1_Missense_Mutation_p.D3533G|PLEC_uc003zac.1_Missense_Mutation_p.D3537G|PLEC_uc003zad.2_Missense_Mutation_p.D3533G|PLEC_uc003zae.1_Missense_Mutation_p.D3501G|PLEC_uc003zag.1_Missense_Mutation_p.D3511G|PLEC_uc003zah.2_Missense_Mutation_p.D3519G|PLEC_uc003zaj.2_Missense_Mutation_p.D3560G	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3670	Globular 2.|Plectin 16.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CGTCTCGGGGTCCTCCACGCA	0.637													C	144993391	T	C	144993391	3	2	49	1	0	0	0	0	1	0	0	0	12052	1667	58	3	3049	3	PLEC	8	144993391	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1846	144993391	1370631	734	39615											
PLEC	5339	broad.mit.edu	37	chr8	144995498	144995498	+	Missense_Mutation	SNP	G	G	A													ctcgtcgaagtagccgcgccGgtaggccacgtccacgggca							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:144995498G>A	uc003zaf.1	-	32	9072	c.8902C>T	c.(8902-8904)CGG>TGG	p.R2968W	PLEC_uc003zab.1_Missense_Mutation_p.R2831W|PLEC_uc003zac.1_Missense_Mutation_p.R2835W|PLEC_uc003zad.2_Missense_Mutation_p.R2831W|PLEC_uc003zae.1_Missense_Mutation_p.R2799W|PLEC_uc003zag.1_Missense_Mutation_p.R2809W|PLEC_uc003zah.2_Missense_Mutation_p.R2817W|PLEC_uc003zaj.2_Missense_Mutation_p.R2858W	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2968	Plectin 4.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TAGCCGCGCCGGTAGGCCACG	0.682													A	144995498	G	A	144995498	3	1	49	1	0	0	0	0	1	0	0	0	12052	1115	39	1	5156	1	PLEC	8	144995498	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2107	144995498	1368524	735	39616	131	2									
PLEC	5339	broad.mit.edu	37	chr8	144995508	144995508	+	Silent	SNP	G	G	A													tagccgcgccggtaggccacGtccacgggcacgcggtggct							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:144995508G>A	uc003zaf.1	-	32	9062	c.8892C>T	c.(8890-8892)GAC>GAT	p.D2964D	PLEC_uc003zab.1_Silent_p.D2827D|PLEC_uc003zac.1_Silent_p.D2831D|PLEC_uc003zad.2_Silent_p.D2827D|PLEC_uc003zae.1_Silent_p.D2795D|PLEC_uc003zag.1_Silent_p.D2805D|PLEC_uc003zah.2_Silent_p.D2813D|PLEC_uc003zaj.2_Silent_p.D2854D	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2964	Plectin 4.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GGTAGGCCACGTCCACGGGCA	0.687													A	144995508	G	A	144995508	2	1	49	1	0	0	0	0	0	0	0	1	12052	1136	40	1		1	PLEC	8	144995508	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	10	144995508	1368514	736	39617	131	2									
OPLAH	26873	broad.mit.edu	37	chr8	145108223	145108223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgggcacggaggtccgaCaggttgtcgtgcaggtttct	15	10	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:145108223C>T	uc003zar.3	-	20	2842	c.2760G>A	c.(2758-2760)CTG>CTA	p.L920L	OPLAH_uc003zas.1_Missense_Mutation_p.V195I	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	920							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GGAGGTCCGACAGGTTGTCGT	0.652													T	145108223	C	T	145108223	2	4	49	1	0	0	0	0	0	0	0	1	10876	465	17	4		4	OPLAH	8	145108223	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	112715	145108223	1255799	737	39618											
CPSF1	29894	broad.mit.edu	37	chr8	145626419	145626419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatggctgcacagcgcccGtcggggtccacccgcactcg	13	17	0	0	rs150293361		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:145626419G>A	uc003zcj.2	-	6	513	c.438C>T	c.(436-438)GAC>GAT	p.D146D	CPSF1_uc003zck.1_Silent_p.D68D|CPSF1_uc011lle.1_Silent_p.D146D|MIR1234_hsa-mir-1234|MI0006324_5'Flank|CPSF1_uc011llf.1_Silent_p.D146D	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	146					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CACAGCGCCCGTCGGGGTCCA	0.692													A	145626419	G	A	145626419	2	1	49	1	0	0	0	0	0	0	0	1	3824	1136	40	1		1	CPSF1	8	145626419	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	518196	145626419	737603	738	39619											
ZNF7	7553	broad.mit.edu	37	chr8	146066890	146066891	+	Frame_Shift_Del	DEL	AC	AC	-													tgattctgaggtctggttagAcagtcatctgggcagtcccg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:146066889_146066890GAC>G	uc010mge.3	+	4	567_568	c.430_431GAC>G	c.(430-432)gacfs	p.D144fs	ZNF7_uc003zeg.4_Frame_Shift_Del_p.D133fs|ZNF7_uc011lln.2_Frame_Shift_Del_p.D37fs|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.4_Frame_Shift_Del_p.D37fs|COMMD5_uc003zel.1_Non-coding_Transcript	NM_003416	NP_003407	P17097	ZNF7_HUMAN	Homo sapiens zinc finger protein 7 (ZNF7), mRNA.	133					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GGTCTGGTTAGACAGTCATCTG	0.485													-	146066891	AC	-	146066890	7	5	49	1	0	1	0	1	0	0	0	0	18099	275	10	0	412	0	ZNF7	8	146066890	Frame_Shift_Del	DEL	AC	TCGA-BR-7707-01A-11D-2053-08	440471	146066890	297132	739	39620											
FOXD4	2298	broad.mit.edu	37	chr9	116842	116842	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagggaactgggcgtgggCgatactaaaaaaactggtga	15	7	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:116842C>T	uc003zfz.2	-	1	1576	c.1278G>A	c.(1276-1278)TCG>TCA	p.S426S		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	426					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TGGGCGTGGGCGATACTAAAA	0.677													T	116842	C	T	116842	2	4	49	1	0	0	0	0	0	0	0	1	5999	755	27	1		1	FOXD4	9	116842	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08		116842	141096589	740	39621											
DMRT2	10655	broad.mit.edu	37	chr9	1056535	1056535	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accatgcagtattcagggtcTgggaatatggaactaatttc	10	7	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:1056535T>C	uc003zha.2	+	4	1148	c.948T>C	c.(946-948)TCT>TCC	p.S316S	DMRT2_uc003zgx.3_Silent_p.S83S|DMRT2_uc010mgz.2_Silent_p.S83S|DMRT2_uc003zgy.3_Silent_p.S160S|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Silent_p.S316S	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor	316					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		ATTCAGGGTCTGGGAATATGG	0.463													C	1056535	T	C	1056535	2	2	49	1	0	0	0	0	0	0	0	1	4586	1567	55	3		3	DMRT2	9	1056535	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	939693	1056535	140156896	741	39622											
SMARCA2	6595	broad.mit.edu	37	chr9	2186173	2186173	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaaagaggaagagagtgaGgatgaaagcaatgaagagga	16	3	0	6			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:2186173G>T	uc003zhc.2	+	32	4638	c.4539G>T	c.(4537-4539)GAG>GAT	p.E1513D	SMARCA2_uc003zhd.2_Missense_Mutation_p.E1495D|SMARCA2_uc010mha.2_Missense_Mutation_p.E1428D|SMARCA2_uc011llw.1_Missense_Mutation_p.E199D|SMARCA2_uc003zhf.2_Missense_Mutation_p.E177D|SMARCA2_uc011llx.1_Missense_Mutation_p.E159D|SMARCA2_uc003zhe.2_Missense_Mutation_p.E201D|SMARCA2_uc003zhg.2_Missense_Mutation_p.E159D|SMARCA2_uc010mhb.2_Missense_Mutation_p.E183D	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1513					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		aagagagtgaggatgaaagca	0.358													T	2186173	G	T	2186173	3	4	49	1	0	0	0	0	1	0	0	0	14769	991	35	5	4661	5	SMARCA2	9	2186173	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1129638	2186173	139027258	742	39623											
RFX3	5991	broad.mit.edu	37	chr9	3248157	3248157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaagctagcagcactgcGtaaggttaagtcccgaataa	10	10	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:3248157G>A	uc003zhr.2	-	16	2155	c.1843C>T	c.(1843-1845)CGC>TGC	p.R615C	RFX3_uc010mhd.2_Missense_Mutation_p.R615C|RFX3_uc003zhs.1_Missense_Mutation_p.R615C	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	615					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GCAGCACTGCGTAAGGTTAAG	0.418													A	3248157	G	A	3248157	3	1	49	1	0	0	0	0	1	0	0	0	13264	1145	40	1	574	1	RFX3	9	3248157	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1061984	3248157	137965274	743	39624											
GLIS3	169792	broad.mit.edu	37	chr9	4117861	4117861	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtatcttcgagggcaaccGgcccagaagcaagtgaagtc	12	10	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:4117861G>A	uc003zhw.1	-	3	1346	c.1152C>T	c.(1150-1152)GCC>GCT	p.A384A	GLIS3_uc003zhx.1_Silent_p.A539A|GLIS3_uc003zic.1_Silent_p.A539A|GLIS3_uc003zie.1_Silent_p.A539A|GLIS3_uc010mhh.1_Silent_p.A414A|GLIS3_uc003zid.1_Silent_p.A317A|GLIS3_uc010mhi.1_Silent_p.A346A|GLIS3_uc003zif.1_Silent_p.A317A|GLIS3_uc003zig.1_Silent_p.A383A|GLIS3_uc003zih.1_Silent_p.A317A|GLIS3_uc003zhy.1_Silent_p.A317A|GLIS3_uc003zhz.1_Silent_p.A317A|GLIS3_uc003zib.1_Silent_p.A383A|GLIS3_uc010mhg.1_Silent_p.A317A	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	384	C2H2-type 2; atypical.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GAGGGCAACCGGCCCAGAAGC	0.577													A	4117861	G	A	4117861	2	1	49	1	0	0	0	0	0	0	0	1	6447	1103	39	1		1	GLIS3	9	4117861	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	869704	4117861	137095570	744	39625											
AK3	50808	broad.mit.edu	37	chr9	4719173	4719173	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattcaatgttatagactcGgccactggcgggatgaatcc	11	9	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:4719173G>A	uc003ziq.1	-	3	546	c.406C>T	c.(406-408)CGA>TGA	p.R136*	AK3_uc003zip.1_RNA|AK3_uc011lma.1_Nonsense_Mutation_p.R96*|AK3_uc003zir.1_Nonsense_Mutation_p.R66*	NM_016282	NP_057366	Q9UIJ7	KAD3_HUMAN	adenylate kinase 3	136					blood coagulation	mitochondrial matrix	ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity			ovary(2)	2	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)		TTATAGACTCGGCCACTGGCG	0.473													A	4719173	G	A	4719173	4	1	49	1	0	0	0	0	0	1	0	0	441	1124	39	1	289	1	AK3	9	4719173	Nonsense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	601312	4719173	136494258	745	39626											
C9orf123	90871	broad.mit.edu	37	chr9	7798586	7798586	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtactttcaaacaacgcggTaggccttccctttggggtct	11	11	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:7798586T>C	uc003zki.2	-	2	284	c.240A>G	c.(238-240)CTA>CTG	p.L80L	C9orf123_uc003zkj.2_Missense_Mutation_p.Y109C			Q96GE9	CI123_HUMAN	Homo sapiens cDNA FLJ46908 fis, clone FEBRA2004867.	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to membrane					0		all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356)		GBM - Glioblastoma multiforme(50;0.0561)		AACAACGCGGTAGGCCTTCCC	0.408													C	7798586	T	C	7798586	2	2	49	1	0	0	0	0	0	0	0	1	2453	1638	57	3		3	C9orf123	9	7798586	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	3079413	7798586	133414845	746	39627											
PTPRD	5789	broad.mit.edu	37	chr9	8499702	8499702	+	Frame_Shift_Del	DEL	T	T	-													gctggcccttgggctcaccaTtttccatcctcacataatgc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:8499701_8499701AT>A	uc003zkk.3	-	24	3011	c.2268_2268AT>T	c.(2266-2268)aatfs	p.N756fs	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	756	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGGGCTCACCATTTTCCATCC	0.443										TSP Lung(15;0.13)			-	8499702	T	-	8499702	7	5	49	1	0	1	0	1	0	0	0	0	12799	1493	52	0	3627	0	PTPRD	9	8499702	Frame_Shift_Del	DEL	T	TCGA-BR-7707-01A-11D-2053-08	701116	8499702	132713729	747	39628											
FREM1	158326	broad.mit.edu	37	chr9	14842654	14842654	+	Frame_Shift_Del	DEL	C	C	-													acggtgaagagaaaccctttCccccctgagggagagagcag							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:14842653_14842653TC>T	uc003zlm.3	-	9	2215	c.1399_1399GA>A	c.(1399-1401)aaafs	p.K467fs	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	467					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGAAACCCTTTCCCCCCTGAG	0.527													-	14842654	C	-	14842654	7	5	49	1	0	1	0	1	0	0	0	0	6044	842	30	0	5307	0	FREM1	9	14842654	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	6342952	14842654	126370777	748	39629											
FREM1	158326	broad.mit.edu	37	chr9	14859265	14859265	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccatctggccatgggctgGcagccgagttctcgcagtgt	13	12	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:14859265G>T	uc003zlm.2	-	4	1137	c.547C>A	c.(547-549)CCA>ACA	p.P183T	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	183					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		CCATGGGCTGGCAGCCGAGTT	0.512													T	14859265	G	T	14859265	3	4	49	1	0	0	0	0	1	0	0	0	6044	1203	42	5	6178	5	FREM1	9	14859265	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	16611	14859265	126354166	749	39630											
CNTLN	54875	broad.mit.edu	37	chr9	17466781	17466781	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaattgaaacagcagcatcTaagcagcttcaagaattagc	8	8	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:17466781T>C	uc003zmz.2	+	23	3770	c.3744T>C	c.(3742-3744)TCT>TCC	p.S1248S	CNTLN_uc003zmy.2_Silent_p.S1249S|CNTLN_uc010mio.2_Silent_p.S928S	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1249	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		CAGCAGCATCTAAGCAGCTTC	0.403													C	17466781	T	C	17466781	2	2	49	1	0	0	0	0	0	0	0	1	3639	1509	53	3		3	CNTLN	9	17466781	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	2607516	17466781	123746650	750	39631											
FAM154A	158297	broad.mit.edu	37	chr9	18928992	18928992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaacctgactgatgccggCtggtatttgtgttccagacg	11	10	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:18928992C>T	uc003zni.1	-	4	761	c.483G>A	c.(481-483)CAG>CAA	p.Q161Q	FAM154A_uc010mip.1_5'UTR	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	hypothetical protein LOC158297	161										pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.53e-16)		CTGATGCCGGCTGGTATTTGT	0.438													T	18928992	C	T	18928992	2	4	49	1	0	0	0	0	0	0	0	1	5463	796	28	2		2	FAM154A	9	18928992	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1462211	18928992	122284439	751	39632											
DDX58	23586	broad.mit.edu	37	chr9	32492458	32492458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaagtttcaaagttttggGccagttttccttgtctgatc	9	8	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:32492458G>A	uc003zra.2	-	4	660	c.502C>T	c.(502-504)CCC>TCC	p.P168S	DDX58_uc010mjj.2_Intron|DDX58_uc010mjk.1_Missense_Mutation_p.P123S|DDX58_uc011lnr.1_Intron|DDX58_uc010mji.2_Missense_Mutation_p.P97S	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	168	CARD 2.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		AAAGTTTTGGGCCAGTTTTCC	0.433													A	32492458	G	A	32492458	3	1	49	1	0	0	0	0	1	0	0	0	4375	1203	42	2	2335	2	DDX58	9	32492458	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	13563466	32492458	108720973	752	39633											
TAF1L	138474	broad.mit.edu	37	chr9	32632915	32632915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcttcttccgttggtaaaCgaaaatcagacttaagcacc	6	11	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:32632915C>T	uc003zrg.1	-	1	2753	c.2663G>A	c.(2662-2664)CGT>CAT	p.R888H	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	888					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CGTTGGTAAACGAAAATCAGA	0.483													T	32632915	C	T	32632915	3	4	49	1	0	0	0	0	1	0	0	0	15520	536	19	1	2821	1	TAF1L	9	32632915	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	140457	32632915	108580516	753	39634											
APTX	54840	broad.mit.edu	37	chr9	32984853	32984853	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accacctgctcatctttgtaAacctagcagagggatacaag	8	11	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:32984853A>G	uc003zrm.2	-	5	743	c.546T>C	c.(544-546)GTT>GTC	p.V182V	APTX_uc010mjm.2_RNA|APTX_uc003zrj.2_Silent_p.V94V|APTX_uc011lns.1_Silent_p.V3V|APTX_uc003zrl.2_Silent_p.V8V|APTX_uc003zrn.2_Silent_p.V94V|APTX_uc003zro.2_Silent_p.V182V|APTX_uc003zrp.2_Silent_p.V94V|APTX_uc003zrq.2_Silent_p.V94V|APTX_uc003zrr.2_Silent_p.V128V|APTX_uc003zrs.2_Silent_p.V182V|APTX_uc003zrt.2_Silent_p.V94V|APTX_uc003zru.2_Silent_p.V128V|APTX_uc003zrv.2_Silent_p.V196V|APTX_uc003zrw.2_Silent_p.V110V|APTX_uc003zrx.2_Silent_p.V182V|APTX_uc003zry.2_Silent_p.V182V|APTX_uc003zrz.2_Silent_p.V3V|APTX_uc003zsa.1_Silent_p.V128V|APTX_uc003zsb.1_RNA|APTX_uc003zsc.1_RNA	NM_175072	NP_778242	Q7Z2E3	APTX_HUMAN	aprataxin isoform c	196	HIT.				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		CATCTTTGTAAACCTAGCAGA	0.308								Direct_reversal_of_damage|Editing_and_processing_nucleases					G	32984853	A	G	32984853	2	3	49	1	0	0	0	0	0	0	0	1	820	1	1	3		3	APTX	9	32984853	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	351938	32984853	108228578	754	39635											
CHMP5	51510	broad.mit.edu	37	chr9	33265075	33265075	+	Translation_Start_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcttcgcggctgctcaAgatgaaccgactcttcggga	12	11	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:33265075A>T	uc003zsl.3	+	2	354	c.-1A>T	c.(-3-1)CAAGA>CATGA		SUGT1P1_uc010mjq.1_Intron|BAG1_uc003zsi.2_5'Flank|BAG1_uc003zsj.2_5'Flank|BAG1_uc003zsk.2_5'Flank|CHMP5_uc003zsm.3_Translation_Start_Site|CHMP5_uc011lnv.1_Translation_Start_Site	NM_016410	NP_057494	Q9NZZ3	CHMP5_HUMAN	chromatin modifying protein 5						cellular membrane organization|protein transport	cytosol|endosome membrane	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			CGGCTGCTCAAGATGAACCGA	0.572													T	33265075	A	T	33265075	1	4	49	1	0	0	0	0	0	0	0	0	3359	87	3	5		5	CHMP5	9	33265075	Translation_Start_Site	SNP	A	TCGA-BR-7707-01A-11D-2053-08	280222	33265075	107948356	755	39636											
NFX1	4799	broad.mit.edu	37	chr9	33294870	33294870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtgagaaggaagttgtgGgtgcagatcccaggggagca	18	5	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:33294870G>A	uc003zsq.2	+	2	539	c.478G>A	c.(478-480)GGT>AGT	p.G160S	SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Missense_Mutation_p.G160S|NFX1_uc003zso.2_Missense_Mutation_p.G160S|NFX1_uc003zsp.1_Missense_Mutation_p.G160S|NFX1_uc010mjr.1_Missense_Mutation_p.G160S|NFX1_uc003zsr.2_Missense_Mutation_p.G160S	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	160					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GGAAGTTGTGGGTGCAGATCC	0.483													A	33294870	G	A	33294870	3	1	49	1	0	0	0	0	1	0	0	0	10387	1232	43	4	484	4	NFX1	9	33294870	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	29795	33294870	107918561	756	39637											
NOL6	65083	broad.mit.edu	37	chr9	33466695	33466695	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctaccagggcctcctcacCtgtgctggaggtctgagagg	14	13	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:33466695C>A	uc003zsz.2	-	16	2064	c.1963G>T	c.(1963-1965)GGT>TGT	p.G655C	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Missense_Mutation_p.G652C|NOL6_uc011lob.1_Missense_Mutation_p.G603C|NOL6_uc003ztb.1_Missense_Mutation_p.G655C	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	655					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GCCTCCTCACCTGTGCTGGAG	0.632											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	33466695	C	A	33466695	3	1	49	1	0	0	0	0	1	0	0	0	10525	681	24	5	1521	5	NOL6	9	33466695	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	171825	33466695	107746736	757	39638											
NOL6	65083	broad.mit.edu	37	chr9	33469527	33469527	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaacagtgagggtttcaGgtggcagccatttgtgtagg	15	7	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:33469527G>A	uc003zsz.2	-	5	798	c.697C>T	c.(697-699)CTG>TTG	p.L233L	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zta.2_Silent_p.L233L|NOL6_uc010mjv.2_Silent_p.L233L|NOL6_uc011lob.1_Silent_p.L173L|NOL6_uc003ztb.1_Silent_p.L233L	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	233					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GAGGGTTTCAGGTGGCAGCCA	0.597													A	33469527	G	A	33469527	2	1	49	1	0	0	0	0	0	0	0	1	10525	991	35	4		4	NOL6	9	33469527	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2832	33469527	107743904	758	39639											
PRSS3	5646	broad.mit.edu	37	chr9	33797977	33797977	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaaactctcctcacctgcCgtcatcaatgcccgcgtgtc	6	17	5	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:33797977C>T	uc003ztj.3	+	3	522	c.522C>T	c.(520-522)GCC>GCT	p.A174A	uc003ztk.1_Intron|PRSS3_uc003zti.3_Silent_p.A131A|PRSS3_uc003ztl.3_Silent_p.A117A	NM_007343	NP_031369	P35030	TRY3_HUMAN	mesotrypsin isoform 1 preproprotein	174	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity				0			LUSC - Lung squamous cell carcinoma(29;0.0176)			CCTCACCTGCCGTCATCAATG	0.557													T	33797977	C	T	33797977	2	4	49	1	0	0	0	0	0	0	0	1	12622	639	23	1		1	PRSS3	9	33797977	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	328450	33797977	107415454	759	39640											
KIF24	347240	broad.mit.edu	37	chr9	34256530	34256530	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctgggacagcatgaccGtttttcacagtgctggtcac	10	12	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:34256530G>A	uc003zua.3	-	11	3195	c.3075C>T	c.(3073-3075)AAC>AAT	p.N1025N	KIF24_uc010mkb.2_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1025					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)			CAGCATGACCGTTTTTCACAG	0.552													A	34256530	G	A	34256530	2	1	49	1	0	0	0	0	0	0	0	1	8292	1136	40	1		1	KIF24	9	34256530	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	458553	34256530	106956901	760	39641											
KIF24	347240	broad.mit.edu	37	chr9	34286630	34286630	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attacctctaagaggagctcCacactgtccacctgaagctc	7	14	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:34286630C>A	uc003zua.3	-	6	1320	c.1200G>T	c.(1198-1200)GTG>GTT	p.V400V	KIF24_uc010mkb.2_Silent_p.V431V	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	400	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)			AGAGGAGCTCCACACTGTCCA	0.438													A	34286630	C	A	34286630	2	1	49	1	0	0	0	0	0	0	0	1	8292	581	21	5		5	KIF24	9	34286630	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	30100	34286630	106926801	761	39642											
KIAA1161	57462	broad.mit.edu	37	chr9	34372050	34372050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcttgttgaagtagcgacGcaccatgtacttgtggatgg	14	8	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:34372050G>A	uc003zue.3	-	3	1059	c.892C>T	c.(892-894)CGT>TGT	p.R298C		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	298	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AAGTAGCGACGCACCATGTAC	0.662													A	34372050	G	A	34372050	3	1	49	1	0	0	0	0	1	0	0	0	8211	1087	38	1	1256	1	KIAA1161	9	34372050	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	85420	34372050	106841381	762	39643											
UNC13B	10497	broad.mit.edu	37	chr9	35377503	35377503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaacatggagctgaggacCggacccagaacattatcatg	11	9	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:35377503C>T	uc003zwq.2	+	15	1919	c.1627C>T	c.(1627-1629)CGG>TGG	p.R543W	UNC13B_uc003zwr.2_Missense_Mutation_p.R543W	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	543					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AGCTGAGGACCGGACCCAGAA	0.517													T	35377503	C	T	35377503	3	4	49	1	0	0	0	0	1	0	0	0	16982	643	23	1	1685	1	UNC13B	9	35377503	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1005453	35377503	105835928	763	39644											
CA9	768	broad.mit.edu	37	chr9	35680810	35680810	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccagcgtcgcgttccttgTgcagatgagaaggcagcaca	12	12	0	2	rs151268469		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:35680810T>C	uc003zxo.3	+	10	1340	c.1298T>C	c.(1297-1299)GTG>GCG	p.V433A	CA9_uc003zxp.3_Missense_Mutation_p.V424A	NM_001216	NP_001207	Q16790	CAH9_HUMAN	carbonic anhydrase IX precursor	433	Helical; (Potential).				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			ovary(4)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCGTTCCTTGTGCAGATGAGA	0.532													C	35680810	T	C	35680810	3	2	49	1	0	0	0	0	1	0	0	0	2524	1696	59	3	1336	3	CA9	9	35680810	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	303307	35680810	105532621	764	39645											
CREB3	10488	broad.mit.edu	37	chr9	35736119	35736119	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caaaaccagcagcagcagcaCctgcatcttggtgaggatgg	12	11	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:35736119C>G	uc003zxv.2	+	7	1139	c.686C>G	c.(685-687)ACC>AGC	p.T229S	CREB3_uc010mla.2_Missense_Mutation_p.T148S	NM_006368	NP_006359	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	253	Cytoplasmic (Potential).				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|integral to membrane|nucleus|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity				0	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		AGCAGCAGCACCTGCATCTTG	0.502											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	35736119	C	G	35736119	3	3	49	1	0	0	0	0	1	0	0	0	3855	507	18	5	712	5	CREB3	9	35736119	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	55309	35736119	105477312	765	39646											
NPR2	4882	broad.mit.edu	37	chr9	35793058	35793058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggccacccacttcatccGggccaacgggcgcagtgagt	13	15	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:35793058G>A	uc003zyd.2	+	1	653	c.653G>A	c.(652-654)CGG>CAG	p.R218Q	NPR2_uc010mlb.2_Missense_Mutation_p.R218Q	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	218	Extracellular (Potential).				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			ovary(2)|stomach(1)	3	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CACTTCATCCGGGCCAACGGG	0.632													A	35793058	G	A	35793058	3	1	49	1	0	0	0	0	1	0	0	0	10595	1116	39	1	655	1	NPR2	9	35793058	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	56939	35793058	105420373	766	39647											
RECK	8434	broad.mit.edu	37	chr9	36117105	36117105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtttgtgacacagaccaCatggagcacaacaatctctg	8	12	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:36117105C>T	uc003zyv.2	+	17	2270	c.2184C>T	c.(2182-2184)CAC>CAT	p.H728H	RECK_uc003zyw.2_Silent_p.H600H|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	728	Kazal-like 2.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ACACAGACCACATGGAGCACA	0.463													T	36117105	C	T	36117105	2	4	49	1	0	0	0	0	0	0	0	1	13200	477	17	4		4	RECK	9	36117105	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	324047	36117105	105096326	767	39648											
CCIN	881	broad.mit.edu	37	chr9	36170316	36170316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcctgctggtctaccagCggaaaggggccctgcttgat	14	12	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:36170316C>T	uc003zzb.3	+	1	928	c.817C>T	c.(817-819)CGG>TGG	p.R273W		NM_005893	NP_005884	Q13939	CALI_HUMAN	calicin	273					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			ovary(1)|skin(1)	2			STAD - Stomach adenocarcinoma(86;0.228)			GGTCTACCAGCGGAAAGGGGC	0.572													T	36170316	C	T	36170316	3	4	49	1	0	0	0	0	1	0	0	0	2878	759	27	1	819	1	CCIN	9	36170316	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	53211	36170316	105043115	768	39649											
MELK	9833	broad.mit.edu	37	chr9	36657353	36657353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgctgctactccccgaaCatcacaggttcgtcattctt	8	13	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:36657353C>T	uc003zzn.2	+	13	1307	c.1169C>T	c.(1168-1170)ACA>ATA	p.T390I	MELK_uc011lpm.1_Missense_Mutation_p.T259I|MELK_uc011lpn.1_Intron|MELK_uc011lpo.1_Missense_Mutation_p.T196I|MELK_uc010mll.2_Missense_Mutation_p.T358I|MELK_uc011lpp.1_Missense_Mutation_p.T342I|MELK_uc010mlm.2_Missense_Mutation_p.T319I|MELK_uc011lpq.1_Missense_Mutation_p.T196I|MELK_uc011lpr.1_Missense_Mutation_p.T319I|MELK_uc011lps.1_Missense_Mutation_p.T310I	NM_014791	NP_055606	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	390						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			ACTCCCCGAACATCACAGGTT	0.373													T	36657353	C	T	36657353	3	4	49	1	0	0	0	0	1	0	0	0	9470	478	17	4	1215	4	MELK	9	36657353	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	487037	36657353	104556078	769	39650											
PGM5	5239	broad.mit.edu	37	chr9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattattggacagaatggcAtcttgtcgacacctgcggtc	11	9	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478													G	70993145	A	G	70993145	3	3	49	1	0	0	0	0	1	0	0	0	11801	217	8	3	298	3	PGM5	9	70993145	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	34335792	70993145	70220286	770	39651											
APBA1	320	broad.mit.edu	37	chr9	72131597	72131597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagggctcgtcctcaccgCggtggaagagccggtgcgtg	17	11	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:72131597C>T	uc004ahh.2	-	2	806	c.530G>A	c.(529-531)CGC>CAC	p.R177H		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	177					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						GTCCTCACCGCGGTGGAAGAG	0.667													T	72131597	C	T	72131597	3	4	49	1	0	0	0	0	1	0	0	0	756	768	27	1	2031	1	APBA1	9	72131597	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1138452	72131597	69081834	771	39652											
C9orf85	138241	broad.mit.edu	37	chr9	74526630	74526630	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttttgcctgctcccggcgaGgggtggctttgatttcggcg	15	11	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:74526630G>T	uc004ain.2	+	1	208	c.-20G>T	c.(-22--18)GAGGG>GATGG		C9orf85_uc004aio.2_RNA|C9orf85_uc010mou.2_RNA|C9orf85_uc010mov.2_RNA|FAM108B1_uc004ail.2_5'Flank|FAM108B1_uc004aim.1_5'Flank	NM_182505	NP_872311	Q96MD7	CI085_HUMAN	hypothetical protein LOC138241												0						CTCCCGGCGAGGGGTGGCTTT	0.507													T	74526630	G	T	74526630	1	4	49	1	0	0	0	0	0	0	0	0	2501	1015	35	5		5	C9orf85	9	74526630	Translation_Start_Site	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2395033	74526630	66686801	772	39653											
FOXB2	442425	broad.mit.edu	37	chr9	79635083	79635083	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccgccgccgccgcccccGccgccgccgcacatggtaca	11	24	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:79635083G>A	uc004ako.1	+	1	513	c.513G>A	c.(511-513)CCG>CCA	p.P171P		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	171	Poly-Pro.				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						cgccgcccccgccgccgccgc	0.318													A	79635083	G	A	79635083	2	1	49	1	0	0	0	0	0	0	0	1	5993	1074	38	1		1	FOXB2	9	79635083	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	5108453	79635083	61578348	773	39654											
TLE4	7091	broad.mit.edu	37	chr9	82333808	82333808	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacgagacacgtgtacacGggtgggaagggctgcgtcaa	15	11	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:82333808G>A	uc004ald.2	+	16	2436	c.1587G>A	c.(1585-1587)ACG>ACA	p.T529T	TLE4_uc004alc.2_Silent_p.T504T|TLE4_uc010mpr.2_Silent_p.T383T|TLE4_uc004ale.2_Silent_p.T141T|TLE4_uc011lsq.1_Silent_p.T472T|TLE4_uc010mps.2_Silent_p.T428T|TLE4_uc004alf.2_Silent_p.T443T	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						ACGTGTACACGGGTGGGAAGG	0.597													A	82333808	G	A	82333808	2	1	49	1	0	0	0	0	0	0	0	1	15938	1103	39	1		1	TLE4	9	82333808	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2698725	82333808	58879623	774	39655											
TLE1	7088	broad.mit.edu	37	chr9	84226773	84226773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtaaactggcgtaggcagCgcctgggctggtcagctcgc	16	11	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:84226773C>T	uc004aly.2	-	13	1606	c.1165G>A	c.(1165-1167)GCT>ACT	p.A389T	TLE1_uc004alz.2_Missense_Mutation_p.A399T|TLE1_uc011lsr.1_Missense_Mutation_p.A374T|TLE1_uc004ama.1_Missense_Mutation_p.A388T|TLE1_uc011lss.1_Missense_Mutation_p.A315T	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	389	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2						GCGTAGGCAGCGCCTGGGCTG	0.687													T	84226773	C	T	84226773	3	4	49	1	0	0	0	0	1	0	0	0	15935	768	27	1	1179	1	TLE1	9	84226773	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1892965	84226773	56986658	775	39656											
FLJ46321	389763	broad.mit.edu	37	chr9	84603827	84603827	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgaccccaacttcatctgcTtgagtgggttggggttgttt	12	9	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:84603827T>G	uc004amn.2	+	1	141	c.94T>G	c.(94-96)TTG>GTG	p.L32V		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	32	Helical; (Potential).					integral to membrane					0						CTTCATCTGCTTGAGTGGGTT	0.443													G	84603827	T	G	84603827	3	3	49	1	0	0	0	0	1	0	0	0	5932	1606	56	5	96	5	FLJ46321	9	84603827	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	377054	84603827	56609604	776	39657											
SLC28A3	64078	broad.mit.edu	37	chr9	86900448	86900448	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagggcatgaagatgtaggAgcagattagctacagaaacc	12	6	0	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:86900448A>C	uc010mpz.2	-	14	1584	c.1459T>G	c.(1459-1461)TCC>GCC	p.S487A	SLC28A3_uc011lsy.1_Missense_Mutation_p.S418A|SLC28A3_uc004anu.1_Missense_Mutation_p.S487A	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN	concentrative Na+-nucleoside cotransporter	487	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						AAGATGTAGGAGCAGATTAGC	0.423													C	86900448	A	C	86900448	3	2	49	1	0	0	0	0	1	0	0	0	14533	304	11	5	636	5	SLC28A3	9	86900448	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	2296621	86900448	54312983	777	39658											
DAPK1	1612	broad.mit.edu	37	chr9	90220046	90220046	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaatgtcatcaccctgcaCgaggtctatgagaacaagac	8	13	3	2	rs36207429		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:90220046C>T	uc004apc.2	+	3	378	c.240C>T	c.(238-240)CAC>CAT	p.H80H	DAPK1_uc004ape.2_Silent_p.H80H|DAPK1_uc004apd.2_Silent_p.H80H|DAPK1_uc011ltg.1_Silent_p.H80H|DAPK1_uc011lth.1_Translation_Start_Site	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	80	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						TCACCCTGCACGAGGTCTATG	0.622									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				T	90220046	C	T	90220046	2	4	49	1	0	0	0	0	0	0	0	1	4235	535	19	1		1	DAPK1	9	90220046	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3319598	90220046	50993385	778	39659											
FBP1	2203	broad.mit.edu	37	chr9	97369188	97369190	+	In_Frame_Del	DEL	TTT	TTT	-													ggctgtagattttacctttcTtttttatcttcacatccttg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:97369187_97369189CTTT>C	uc004auw.4	-	4	944_946	c.613_615AAAG>G	c.(613-615)aag>G	p.K206del	FBP1_uc010mrl.3_In_Frame_Del_p.K206del	NM_000507	NP_001121100	P09467	F16P1_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	206					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TTTTACCTTTCTTTTTTATCTTC	0.507													-	97369190	TTT	-	97369188	7	5	49	1	0	1	0	1	0	0	0	0	5705	1609	56	0	414	0	FBP1	9	97369188	In_Frame_Del	DEL	TTT	TCGA-BR-7707-01A-11D-2053-08	7149142	97369188	43844243	779	39660											
C9orf102	375748	broad.mit.edu	37	chr9	98684626	98684626	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaaaaccttgtatctcAgttaccttacagtccttcag	6	11	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:98684626A>G	uc004avt.3	+	8	1760	c.1372A>G	c.(1372-1374)AGT>GGT	p.S458G	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Missense_Mutation_p.S160G|C9orf102_uc010mry.1_Missense_Mutation_p.S160G|C9orf102_uc010mrz.2_Missense_Mutation_p.S269G|C9orf102_uc004avu.2_5'UTR	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	458					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				CTTGTATCTCAGTTACCTTAC	0.393													G	98684626	A	G	98684626	3	3	49	1	0	0	0	0	1	0	0	0	2445	188	7	3	1402	3	C9orf102	9	98684626	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1315438	98684626	42528805	780	39661											
FAM22G	441457	broad.mit.edu	37	chr9	99694495	99694495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccaggtggcccccatcGtgtccccagggaacgctggg	14	16	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:99694495G>A	uc004awq.1	+	2	1223	c.508G>A	c.(508-510)GTG>ATG	p.V170M		NM_001045477	NP_001038942	Q5VZR2	FA22G_HUMAN	hypothetical protein LOC441457	170										skin(1)	1		Acute lymphoblastic leukemia(62;0.0527)				GGCCCCCATCGTGTCCCCAGG	0.697													A	99694495	G	A	99694495	3	1	49	1	0	0	0	0	1	0	0	0	5546	1145	40	1	514	1	FAM22G	9	99694495	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1009869	99694495	41518936	781	39662											
FAM22G	441457	broad.mit.edu	37	chr9	99697671	99697671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctggaggagggactgtggCgggccatgcgggaatggcag	21	8	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:99697671C>T	uc004awq.1	+	3	1490	c.775C>T	c.(775-777)CGG>TGG	p.R259W	HIATL2_uc004awr.1_Intron	NM_001045477	NP_001038942	Q5VZR2	FA22G_HUMAN	hypothetical protein LOC441457	259										skin(1)	1		Acute lymphoblastic leukemia(62;0.0527)				GGGACTGTGGCGGGCCATGCG	0.622													T	99697671	C	T	99697671	3	4	49	1	0	0	0	0	1	0	0	0	5546	759	27	1	785	1	FAM22G	9	99697671	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3176	99697671	41515760	782	39663											
NR4A3	8013	broad.mit.edu	37	chr9	102590657	102590657	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaccatcaccagcagcaGcatcagcagccatccattcc	5	19	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:102590657G>A	uc004baf.1	+	3	1062	c.333G>A	c.(331-333)CAG>CAA	p.Q111Q	NR4A3_uc004bae.2_Silent_p.Q111Q|NR4A3_uc004bag.1_Silent_p.Q111Q|NR4A3_uc004bai.2_Silent_p.Q122Q	NM_006981	NP_008912	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	111					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		EWSR1/NR4A3(140)|TAF15/NR4A3(33)	bone(173)	173		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				accaGCAGCAGCATCAGCAGC	0.498			T	EWSR1	extraskeletal myxoid chondrosarcoma								A	102590657	G	A	102590657	2	1	49	1	0	0	0	0	0	0	0	1	10634	962	34	2		2	NR4A3	9	102590657	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2892986	102590657	38622774	783	39664											
OR13C5	138799	broad.mit.edu	37	chr9	107361654	107361654	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaccagaaagtcccttcAgaaaaaattccaccagaatg	8	10	1	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:107361654A>G	uc011lvp.1	-	1	41	c.41T>C	c.(40-42)CTG>CCG	p.L14P		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C,	14	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4						AAGTCCCTTCAGAAAAAATTC	0.383													G	107361654	A	G	107361654	3	3	49	1	0	0	0	0	1	0	0	0	10937	188	7	3	917	3	OR13C5	9	107361654	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	4770997	107361654	33851777	784	39665											
ZNF462	58499	broad.mit.edu	37	chr9	109689883	109689883	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtgatccggcagcatacGgccaccattcgaagcctctg	11	13	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:109689883G>A	uc004bcz.2	+	3	3979	c.3690G>A	c.(3688-3690)ACG>ACA	p.T1230T	ZNF462_uc010mto.2_Silent_p.T1078T|ZNF462_uc004bda.2_Silent_p.T1078T	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1230					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						GGCAGCATACGGCCACCATTC	0.532													A	109689883	G	A	109689883	2	1	49	1	0	0	0	0	0	0	0	1	17923	1103	39	1		1	ZNF462	9	109689883	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2328229	109689883	31523548	785	39666											
ZNF462	58499	broad.mit.edu	37	chr9	109691126	109691126	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgggagaggagcccgtgTccacttctcacttctctacc	11	13	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:109691126T>C	uc004bcz.2	+	3	5222	c.4933T>C	c.(4933-4935)TCC>CCC	p.S1645P	ZNF462_uc010mto.2_Missense_Mutation_p.S1493P|ZNF462_uc004bda.2_Missense_Mutation_p.S1493P	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1645					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						GGAGCCCGTGTCCACTTCTCA	0.617													C	109691126	T	C	109691126	3	2	49	1	0	0	0	0	1	0	0	0	17923	1667	58	3	4939	3	ZNF462	9	109691126	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1243	109691126	31522305	786	39667											
EPB41L4B	54566	broad.mit.edu	37	chr9	112018740	112018740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattcagataggagagttccGcctgggcagggctctttccc	12	11	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:112018740G>A	uc004bdz.1	-	8	1068	c.773C>T	c.(772-774)GCG>GTG	p.A258V	EPB41L4B_uc004bea.2_Missense_Mutation_p.A258V	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	258	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						GGAGAGTTCCGCCTGGGCAGG	0.468													A	112018740	G	A	112018740	3	1	49	1	0	0	0	0	1	0	0	0	5156	1087	38	1	2157	1	EPB41L4B	9	112018740	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2327614	112018740	29194691	787	39668											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112900596	112900596	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgagctgagaagcacAgcctccctcctggccactca	10	16	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:112900596A>G	uc004bei.2	+	9	3660	c.3468A>G	c.(3466-3468)ACA>ACG	p.T1156T	PALM2-AKAP2_uc004bek.3_Silent_p.T924T|PALM2-AKAP2_uc004bej.3_Silent_p.T924T|PALM2-AKAP2_uc004bel.1_Silent_p.T734T|AKAP2_uc011lwi.1_Silent_p.T782T|AKAP2_uc004bem.2_Silent_p.T782T|PALM2-AKAP2_uc010mtw.1_Silent_p.T742T|AKAP2_uc011lwj.1_Silent_p.T693T|PALM2-AKAP2_uc004ben.2_Silent_p.T693T	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	693							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						TGAGAAGCACAGCCTCCCTCC	0.557													G	112900596	A	G	112900596	2	3	49	1	0	0	0	0	0	0	0	1	11410	175	7	3		3	PALM2-AKAP2	9	112900596	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	881856	112900596	28312835	788	39669											
HDHD3	81932	broad.mit.edu	37	chr9	116136221	116136221	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgccctctagccgtcgGtcaaagttggagatcactgc	12	11	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:116136221G>A	uc004bhi.1	-	2	1198	c.414C>T	c.(412-414)GAC>GAT	p.D138D	HDHD3_uc004bhj.2_Silent_p.D138D|HDHD3_uc004bhk.2_Silent_p.D138D	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain	138							phosphoglycolate phosphatase activity|protein binding				0						CTAGCCGTCGGTCAAAGTTGG	0.652													A	116136221	G	A	116136221	2	1	49	1	0	0	0	0	0	0	0	1	7024	1252	44	4		4	HDHD3	9	116136221	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	3235625	116136221	25077210	789	39670											
TLR4	7099	broad.mit.edu	37	chr9	120475714	120475714	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcattccaatttgaaacaAatgagtgagttttcagtatt	7	6	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:120475714A>G	uc004bjz.2	+	3	1599	c.1308A>G	c.(1306-1308)CAA>CAG	p.Q436Q	TLR4_uc004bka.2_Silent_p.Q396Q|TLR4_uc004bkb.2_Silent_p.Q236Q	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	436	LRR 13.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						ATTTGAAACAAATGAGTGAGT	0.373													G	120475714	A	G	120475714	2	3	49	1	0	0	0	0	0	0	0	1	15950	11	1	3		3	TLR4	9	120475714	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	4339493	120475714	20737717	790	39671											
MEGF9	1955	broad.mit.edu	37	chr9	123421695	123421695	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatgtggactacagtcacAtggctgacagagcccagaag	11	11	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:123421695A>G	uc004bkj.1	-	4	871	c.871T>C	c.(871-873)TGT>CGT	p.C291R	MEGF9_uc011lyb.1_Missense_Mutation_p.C246R|MEGF9_uc004bkk.3_Missense_Mutation_p.C246R	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	254	Laminin EGF-like 2.|Extracellular (Potential).					integral to membrane	calcium ion binding				0						CTACAGTCACATGGCTGACAG	0.473													G	123421695	A	G	123421695	3	3	49	1	0	0	0	0	1	0	0	0	9464	217	8	3	1068	3	MEGF9	9	123421695	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	2945981	123421695	17791736	791	39672											
PHF19	26147	broad.mit.edu	37	chr9	123636883	123636883	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctgtccaccggcacagcAcatactggccctccgtcagt	8	17	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:123636883A>G	uc004bks.1	-	2	390	c.137T>C	c.(136-138)GTG>GCG	p.V46A	PHF19_uc004bkt.2_Missense_Mutation_p.V46A|PHF19_uc010mvk.2_Missense_Mutation_p.V46A	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN	PHD finger protein 19 isoform a	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|breast(1)	2						CCGGCACAGCACATACTGGCC	0.557													G	123636883	A	G	123636883	3	3	49	1	0	0	0	0	1	0	0	0	11829	159	6	3	1820	3	PHF19	9	123636883	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	215188	123636883	17576548	792	39673											
C5	727	broad.mit.edu	37	chr9	123787797	123787797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaaatcttctaaactgtagTatgacagttctttgactgct	6	7	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:123787797T>C	uc004bkv.2	-	9	965	c.935A>G	c.(934-936)TAC>TGC	p.Y312C	C5_uc010mvm.1_Missense_Mutation_p.Y312C|C5_uc010mvn.1_Missense_Mutation_p.Y312C	NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	312					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TAAACTGTAGTATGACAGTTC	0.279													C	123787797	T	C	123787797	3	2	49	1	0	0	0	0	1	0	0	0	2280	1638	57	3	4227	3	C5	9	123787797	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	150914	123787797	17425634	793	39674											
OR1Q1	158131	broad.mit.edu	37	chr9	125377434	125377434	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgatcctgactagaatgCtgtgtgtgaagatggtggtc	13	6	0	5			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:125377434C>T	uc011lyy.1	+	1	418	c.418C>T	c.(418-420)CTG>TTG	p.L140L		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q,	140	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GACTAGAATGCTGTGTGTGAA	0.488													T	125377434	C	T	125377434	2	4	49	1	0	0	0	0	0	0	0	1	10971	796	28	2		2	OR1Q1	9	125377434	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1589637	125377434	15835997	794	39675											
RABGAP1	23637	broad.mit.edu	37	chr9	125746881	125746881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaaggtcacaactggatGgtgaaggagatgggcctctt	14	6	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:125746881G>A	uc011lzh.1	+	3	402	c.268G>A	c.(268-270)GGT>AGT	p.G90S	RABGAP1_uc004bnl.3_RNA|RABGAP1_uc004bnm.1_Missense_Mutation_p.G90S	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	90					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						ACAACTGGATGGTGAAGGAGA	0.498													A	125746881	G	A	125746881	3	1	49	1	0	0	0	0	1	0	0	0	12964	1348	47	4	274	4	RABGAP1	9	125746881	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	369447	125746881	15466550	795	39676											
NR6A1	2649	broad.mit.edu	37	chr9	127302452	127302454	+	In_Frame_Del	DEL	TTC	TTC	-													ccagacatgatcctttcgatTtcttcttccgatatctttga							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:127302451_127302453TTTC>T	uc004bor.1	-	4	633_635	c.455_457GAAA>A	c.(454-459)gaaatc>gAtc	p.152_153EI>D	NR6A1_uc004boq.1_In_Frame_Del_p.148_149EI>D|NR6A1_uc010mwq.1_In_Frame_Del_p.148_149EI>D	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	Homo sapiens nuclear receptor subfamily 6, group A, member 1 (NR6A1), transcript variant 1, mRNA.	152					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.I153I(1)		NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						ATCCTTTCGATTTCTTCTTCCGA	0.468													-	127302454	TTC	-	127302452	7	5	49	1	0	1	0	1	0	0	0	0	10637	1838	64	0	1010	0	NR6A1	9	127302452	In_Frame_Del	DEL	TTC	TCGA-BR-7707-01A-11D-2053-08	1555571	127302452	13910979	796	39677											
OLFML2A	169611	broad.mit.edu	37	chr9	127563865	127563865	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacagccaagccccgcgcccTggcccagcagcaggctgtga	12	18	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:127563865T>A	uc004bov.2	+	5	955	c.842T>A	c.(841-843)CTG>CAG	p.L281Q	OLFML2A_uc010mwr.1_Missense_Mutation_p.L245Q|OLFML2A_uc004bow.2_Missense_Mutation_p.L67Q	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A precursor	281											0						CCCCGCGCCCTGGCCCAGCAG	0.632													A	127563865	T	A	127563865	3	1	49	1	0	0	0	0	1	0	0	0	10857	1580	55	5	860	5	OLFML2A	9	127563865	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	261413	127563865	13649566	797	39678											
PPP6C	5537	broad.mit.edu	37	chr9	127911974	127911974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggaaatatggcgttgtcGttctgggaggaataacacgt	13	5	1	0	rs144776498		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:127911974G>A	uc004bpg.3	-	7	1117	c.896C>T	c.(895-897)ACG>ATG	p.T299M	PPP6C_uc010mwv.2_Missense_Mutation_p.T336M|PPP6C_uc010mww.2_Missense_Mutation_p.T277M|PPP6C_uc011lzr.1_Missense_Mutation_p.T152M	NM_002721	NP_002712	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit isoform	299					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			ovary(1)|skin(1)	2						TGGCGTTGTCGTTCTGGGAGG	0.428													A	127911974	G	A	127911974	3	1	49	1	0	0	0	0	1	0	0	0	12407	1145	40	1	25	1	PPP6C	9	127911974	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	348109	127911974	13301457	798	39679											
FAM125B	89853	broad.mit.edu	37	chr9	129148907	129148907	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggacacactgcctgtgggcTtcatcccaattcaggagacg	11	12	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:129148907T>C	uc004bqh.1	+	4	460	c.379T>C	c.(379-381)TTC>CTC	p.F127L	FAM125B_uc004bqg.1_Missense_Mutation_p.F127L|FAM125B_uc011lzy.1_Missense_Mutation_p.F112L|FAM125B_uc010mxd.2_Missense_Mutation_p.F120L|FAM125B_uc011lzz.1_Missense_Mutation_p.F120L	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	hypothetical protein LOC89853 isoform 1	127	MABP.				protein transport	late endosome membrane					0						GCCTGTGGGCTTCATCCCAAT	0.433													C	129148907	T	C	129148907	3	2	49	1	0	0	0	0	1	0	0	0	5428	1609	56	3	393	3	FAM125B	9	129148907	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1236933	129148907	12064524	799	39680											
SLC2A8	29988	broad.mit.edu	37	chr9	130166038	130166038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgtcgggggtcaacgccGtcatgttctatgcagagacc	13	11	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:130166038G>A	uc004bqu.2	+	6	868	c.823G>A	c.(823-825)GTC>ATC	p.V275I	SLC2A8_uc010mxj.2_Missense_Mutation_p.V275I|SLC2A8_uc004bqv.2_5'Flank	NM_014580	NP_055395	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose	275	Helical; Name=7; (Potential).					cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						GGTCAACGCCGTCATGTTCTA	0.597													A	130166038	G	A	130166038	3	1	49	1	0	0	0	0	1	0	0	0	14551	1145	40	1	845	1	SLC2A8	9	130166038	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1017131	130166038	11047393	800	39681											
PIP5KL1	138429	broad.mit.edu	37	chr9	130688241	130688241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacccagcggctcacctcgCagcctttgatgtcatacctg	8	17	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:130688241C>T	uc011mao.1	-	8	713	c.668G>A	c.(667-669)TGC>TAC	p.C223Y	PIP5KL1_uc004bsu.2_Missense_Mutation_p.C20Y	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	223	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			lung(1)|kidney(1)	2						GCTCACCTCGCAGCCTTTGAT	0.537													T	130688241	C	T	130688241	3	4	49	1	0	0	0	0	1	0	0	0	11942	710	25	2	528	2	PIP5KL1	9	130688241	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	522203	130688241	10525190	801	39682											
LCN2	3934	broad.mit.edu	37	chr9	130911883	130911883	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaggactccacctcagacCtgatcccagccccacctctg	6	21	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:130911883C>A	uc004bto.1	+	1	152	c.79C>A	c.(79-81)CTG>ATG	p.L27M	LCN2_uc010mxq.1_Missense_Mutation_p.L27M|LCN2_uc011map.1_Missense_Mutation_p.L27M	NM_005564	NP_005555	P80188	NGAL_HUMAN	lipocalin 2 precursor	27					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity				0						CACCTCAGACCTGATCCCAGC	0.642													A	130911883	C	A	130911883	3	1	49	1	0	0	0	0	1	0	0	0	8684	680	24	5	81	5	LCN2	9	130911883	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	223642	130911883	10301548	802	39683											
CERCAM	51148	broad.mit.edu	37	chr9	131191243	131191243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggctcgcaggcctgaccGtcgggaacgcatgctcgcct	13	16	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:131191243G>A	uc004buz.3	+	8	1396	c.998G>A	c.(997-999)CGT>CAT	p.R333H	CERCAM_uc004buy.1_Missense_Mutation_p.R255H|CERCAM_uc010mxz.2_Missense_Mutation_p.R255H|CERCAM_uc010mya.1_Missense_Mutation_p.R174H	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule 1	333					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				pancreas(1)	1						AGGCCTGACCGTCGGGAACGC	0.672													A	131191243	G	A	131191243	3	1	49	1	0	0	0	0	1	0	0	0	3266	1145	40	1	1028	1	CERCAM	9	131191243	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	279360	131191243	10022188	803	39684											
METTL11A	28989	broad.mit.edu	37	chr9	132396585	132396585	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctggatccagtgggtgataGgtgagggttccaccgccctt	14	10	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:132396585G>T	uc004byd.1	+	3	609	c.415G>T	c.(415-417)GGC>TGC	p.G139C	METTL11A_uc010myw.1_Intron|METTL11A_uc011mbs.1_Intron	NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN	methyltransferase like 11A	139					chromosome segregation|N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|spindle organization	nucleus	protein binding|protein methyltransferase activity				0						GTGGGTGATAGGTGAGGGTTC	0.592													T	132396585	G	T	132396585	3	4	49	1	0	0	0	0	1	0	0	0	9495	1014	35	5	421	5	METTL11A	9	132396585	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1205342	132396585	8816846	804	39685											
FNBP1	23048	broad.mit.edu	37	chr9	132741597	132741597	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcaatggtaaacatacTtgtattcttcttcctccttc	3	10	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:132741597T>G	uc004byw.1	-	3	416	c.197A>C	c.(196-198)AAG>ACG	p.K66T	FNBP1_uc011mbv.1_Missense_Mutation_p.K66T|FNBP1_uc011mbw.1_Missense_Mutation_p.K66T|FNBP1_uc004bza.2_Missense_Mutation_p.K66T|FNBP1_uc004byz.1_Missense_Mutation_p.K66T|FNBP1_uc004byx.1_5'UTR|FNBP1_uc004byy.1_5'UTR	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN	formin binding protein 1	66	Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding				0		Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GTAAACATACTTGTATTCTTC	0.328			T	MLL	AML								G	132741597	T	G	132741597	3	3	49	1	0	0	0	0	1	0	0	0	5965	1623	56	5	1716	5	FNBP1	9	132741597	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	345012	132741597	8471834	805	39686											
GPR107	57720	broad.mit.edu	37	chr9	132866711	132866711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgtaggtcctggcaaatGtagcctacatcatcatagag	10	9	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:132866711G>A	uc004bze.2	+	13	1371	c.1144G>A	c.(1144-1146)GTA>ATA	p.V382I	GPR107_uc004bzb.2_Missense_Mutation_p.V193I|GPR107_uc004bzc.3_RNA|GPR107_uc011mbx.1_Missense_Mutation_p.V382I|GPR107_uc004bzd.2_Missense_Mutation_p.V382I	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107 isoform 1	382	Helical; Name=4; (Potential).					integral to membrane				upper_aerodigestive_tract(1)	1		Ovarian(14;0.000531)				CCTGGCAAATGTAGCCTACAT	0.522													A	132866711	G	A	132866711	3	1	49	1	0	0	0	0	1	0	0	0	6623	1377	48	4	1194	4	GPR107	9	132866711	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	125114	132866711	8346720	806	39687											
ABL1	25	broad.mit.edu	37	chr9	133760613	133760613	+	Frame_Shift_Del	DEL	C	C	-													ggggacccccatcagcccagCccccgttccctccacgttgc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:133760612_133760612GC>G	uc004bzw.3	+	10	2938	c.2935_2935GC>G	c.(2935-2937)gccfs	p.A979fs	ABL1_uc004bzv.3_Frame_Shift_Del_p.A998fs	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	979	F-actin-binding.|Pro-rich.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CATCAGCCCAGCCCCCGTTCC	0.662			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								-	133760613	C	-	133760613	7	5	49	1	0	1	0	1	0	0	0	0	92	739	26	0	3118	0	ABL1	9	133760613	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	893902	133760613	7452818	807	39688											
POMT1	10585	broad.mit.edu	37	chr9	134397547	134397547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctaccactacctgcccGcactcaccttccaaatcctt	2	20	2	0	rs119462987		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:134397547G>A	uc004cav.2	+	19	2207	c.2005G>A	c.(2005-2007)GCA>ACA	p.A669T	POMT1_uc004cax.2_Missense_Mutation_p.A647T|POMT1_uc011mcj.1_Missense_Mutation_p.A387T|POMT1_uc004cau.2_Missense_Mutation_p.A647T|POMT1_uc004caw.2_Missense_Mutation_p.A593T|POMT1_uc011mck.1_Missense_Mutation_p.A530T|POMT1_uc011mcl.1_Missense_Mutation_p.A495T|POMT1_uc011mcm.1_Missense_Mutation_p.A617T	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	669	Helical; (Potential).		A -> T (in MDDGB1).		multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		CTACCTGCCCGCACTCACCTT	0.627													A	134397547	G	A	134397547	3	1	49	1	0	0	0	0	1	0	0	0	12245	1087	38	1	2075	1	POMT1	9	134397547	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	636934	134397547	6815884	808	39689											
C9orf9	11092	broad.mit.edu	37	chr9	135762810	135762810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagaccggcgggttctgCtcatgttcctggacatctgt	11	13	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:135762810C>T	uc004cbx.1	+	3	310	c.199C>T	c.(199-201)CTC>TTC	p.L67F	C9orf9_uc004cby.1_Missense_Mutation_p.L67F|C9orf9_uc004cbz.1_Missense_Mutation_p.L67F	NM_018956	NP_061829	Q96E40	CI009_HUMAN	Rsb-66 protein	67								p.?(1)			0				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		GCGGGTTCTGCTCATGTTCCT	0.582													T	135762810	C	T	135762810	3	4	49	1	0	0	0	0	1	0	0	0	2504	797	28	2	205	2	C9orf9	9	135762810	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1365263	135762810	5450621	809	39690											
C9orf96	169436	broad.mit.edu	37	chr9	136265620	136265620	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtcctcgatgtccagctGtgtgcctgctccctgctgct	12	14	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:136265620G>A	uc004cdk.2	+	12	1222	c.1161G>A	c.(1159-1161)CTG>CTA	p.L387L	C9orf96_uc004cdl.2_RNA	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	387							ATP binding|protein kinase activity			stomach(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ATGTCCAGCTGTGTGCCTGCT	0.682													A	136265620	G	A	136265620	2	1	49	1	0	0	0	0	0	0	0	1	2508	1364	48	4		4	C9orf96	9	136265620	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	502810	136265620	4947811	810	39691											
ADAMTS13	11093	broad.mit.edu	37	chr9	136319618	136319619	+	Missense_Mutation	DNP	CG	CG	TA													tcggtggcctgtgtgcagctCgaccaaggccaggacgtgga							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:136319618_136319619CG>TA	uc004cdv.3	+	24	3570_3571	c.3126_3127CG>TA	c.(3124-3129)CTCGAC>CTTAAC	p.D1043N	ADAMTS13_uc004cdp.3_Missense_Mutation_p.D270N|ADAMTS13_uc004cdt.1_Missense_Mutation_p.D1043N|ADAMTS13_uc004cdu.1_Missense_Mutation_p.D1012N|ADAMTS13_uc004cdw.3_Missense_Mutation_p.D1043N|ADAMTS13_uc004cdx.3_Missense_Mutation_p.D1012N|ADAMTS13_uc004cdz.3_Missense_Mutation_p.D713N|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.3_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1043	TSP type-1 7.				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)		GTGTGCAGCTCGACCAAGGCCA	0.658													TA	136319619	CG	TA	136319618	3	4	49	1	0	0	0	0	1	0	0	0	258	871	31	1	3220	1	ADAMTS13	9	136319618	Missense_Mutation	DNP	CG	TCGA-BR-7707-01A-11D-2053-08	53998	136319618	4893813	811	39692											
DBH	1621	broad.mit.edu	37	chr9	136501500	136501500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcaccccagccatgcccGccctcagtcgctgggccagc	10	20	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:136501500G>A	uc004cel.2	+	1	16	c.7G>A	c.(7-9)GCC>ACC	p.A3T		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	3	Cytoplasmic (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	AGCCATGCCCGCCCTCAGTCG	0.642													A	136501500	G	A	136501500	3	1	49	1	0	0	0	0	1	0	0	0	4250	1087	38	1	9	1	DBH	9	136501500	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	181882	136501500	4711931	812	39693											
SARDH	1757	broad.mit.edu	37	chr9	136595252	136595252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacacccgcgacccgccGcaccccaaaatcatccgtcc	5	23	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:136595252G>A	uc004cep.3	-	5	882	c.748C>T	c.(748-750)CGG>TGG	p.R250W	SARDH_uc004ceo.2_Missense_Mutation_p.R250W|SARDH_uc011mdn.1_Missense_Mutation_p.R250W|SARDH_uc011mdo.1_Missense_Mutation_p.R82W	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	250					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCGACCCGCCGCACCCCAAAA	0.577													A	136595252	G	A	136595252	3	1	49	1	0	0	0	0	1	0	0	0	13841	1086	38	1	2076	1	SARDH	9	136595252	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	93752	136595252	4618179	813	39694											
SARDH	1757	broad.mit.edu	37	chr9	136597651	136597651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtctcctcctccagctccCggctcaccacccgccgagtg	8	22	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:136597651C>T	uc004cep.3	-	3	538	c.404G>A	c.(403-405)CGG>CAG	p.R135Q	SARDH_uc004ceo.2_Missense_Mutation_p.R135Q|SARDH_uc011mdn.1_Missense_Mutation_p.R135Q|SARDH_uc011mdo.1_5'UTR	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	135					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CTCCAGCTCCCGGCTCACCAC	0.677													T	136597651	C	T	136597651	3	4	49	1	0	0	0	0	1	0	0	0	13841	652	23	1	2428	1	SARDH	9	136597651	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2399	136597651	4615780	814	39695											
SARDH	1757	broad.mit.edu	37	chr9	136599205	136599205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggctgtggggccagctgCgctggacaggttgcatggcc	17	12	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:136599205C>T	uc004cep.3	-	2	225	c.91G>A	c.(91-93)GCA>ACA	p.A31T	SARDH_uc004ceo.2_Missense_Mutation_p.A31T|SARDH_uc011mdn.1_Missense_Mutation_p.A31T|SARDH_uc011mdo.1_Intron	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	31					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGGCCAGCTGCGCTGGACAGG	0.697													T	136599205	C	T	136599205	3	4	49	1	0	0	0	0	1	0	0	0	13841	768	27	1	2745	1	SARDH	9	136599205	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1554	136599205	4614226	815	39696											
VAV2	7410	broad.mit.edu	37	chr9	136662843	136662843	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacttacctcgactttctGcctgaagtcctcccggctgg	10	14	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:136662843G>A	uc004ces.2	-	10	971	c.925C>T	c.(925-927)CAG>TAG	p.Q309*	VAV2_uc004cer.2_Nonsense_Mutation_p.Q304*	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	309	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TCGACTTTCTGCCTGAAGTCC	0.617													A	136662843	G	A	136662843	4	1	49	1	0	0	0	0	0	1	0	0	17129	1328	46	2	1795	2	VAV2	9	136662843	Nonsense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	63638	136662843	4550588	816	39697											
OBP2A	29991	broad.mit.edu	37	chr9	138438712	138438712	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgtccccagtgaaggTgacagccctgggcggtggga	18	9	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:138438712T>G	uc004cgb.2	+	2	203	c.161T>G	c.(160-162)GTG>GGG	p.V54G	OBP2A_uc004cgc.2_Missense_Mutation_p.V54G|OBP2A_uc010nau.2_RNA|OBP2A_uc010nav.2_Intron	NM_014582	NP_055397	Q9NY56	OBP2A_HUMAN	odorant binding protein 2A precursor	54					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CCAGTGAAGGTGACAGCCCTG	0.627													G	138438712	T	G	138438712	3	3	49	1	0	0	0	0	1	0	0	0	10810	1696	59	5	167	5	OBP2A	9	138438712	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1775869	138438712	2774719	817	39698											
KCNT1	57582	broad.mit.edu	37	chr9	138656935	138656935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagggggcaactacagccGccaccgtgcgcagacggaga	15	13	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:138656935G>A	uc011mdq.1	+	12	1168	c.1094G>A	c.(1093-1095)CGC>CAC	p.R365H	KCNT1_uc011mdr.1_Missense_Mutation_p.R192H|KCNT1_uc010nbf.2_Missense_Mutation_p.R320H|KCNT1_uc004cgo.1_Missense_Mutation_p.R114H	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	365						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AACTACAGCCGCCACCGTGCG	0.617													A	138656935	G	A	138656935	3	1	49	1	0	0	0	0	1	0	0	0	8091	1087	38	1	1140	1	KCNT1	9	138656935	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	218223	138656935	2556496	818	39699											
GPSM1	26086	broad.mit.edu	37	chr9	139250158	139250158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagcatcccgagggcccCgtcttcggacgaggagtgct	14	14	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:139250158C>T	uc004chd.2	+	12	1692	c.1472C>T	c.(1471-1473)CCG>CTG	p.P491L	GPSM1_uc011mdu.1_5'UTR|GPSM1_uc004che.2_5'UTR	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1 (AGS3-like, C.	491	Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CCGAGGGCCCCGTCTTCGGAC	0.672													T	139250158	C	T	139250158	3	4	49	1	0	0	0	0	1	0	0	0	6734	652	23	1	1685	1	GPSM1	9	139250158	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	593223	139250158	1963273	819	39700											
CARD9	64170	broad.mit.edu	37	chr9	139262099	139262099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcccaccaggacgagcGtctccagctgctgccgcctg	12	18	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:139262099G>A	uc004chg.3	-	8	1425	c.1259C>T	c.(1258-1260)ACG>ATG	p.T420M	CARD9_uc011mdw.1_Missense_Mutation_p.T420M|CARD9_uc011mdx.1_Missense_Mutation_p.T316M	NM_052813	NP_434700	Q9H257	CARD9_HUMAN	caspase recruitment domain protein 9 isoform 1	420					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			pancreas(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CAGGACGAGCGTCTCCAGCTG	0.726													A	139262099	G	A	139262099	3	1	49	1	0	0	0	0	1	0	0	0	2652	1145	40	1	428	1	CARD9	9	139262099	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	11941	139262099	1951332	820	39701											
PMPCA	23203	broad.mit.edu	37	chr9	139312525	139312525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccccatccccgagctcacGcacatcatggttggactgga	9	16	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:139312525G>A	uc004chl.2	+	8	959	c.954G>A	c.(952-954)ACG>ACA	p.T318T	PMPCA_uc010nbl.2_Silent_p.T218T|PMPCA_uc011mdz.1_Silent_p.T187T|PMPCA_uc004chm.1_Silent_p.T68T|PMPCA_uc004chn.1_5'Flank	NM_015160	NP_055975	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	318					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		CCGAGCTCACGCACATCATGG	0.567													A	139312525	G	A	139312525	2	1	49	1	0	0	0	0	0	0	0	1	12140	1074	38	1		1	PMPCA	9	139312525	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	50426	139312525	1900906	821	39702											
SEC16A	9919	broad.mit.edu	37	chr9	139370070	139370070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggtgcacagagggtctcCatgttgtctggtggctgctc	16	9	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:139370070C>T	uc004chx.2	-	3	2307	c.1998G>A	c.(1996-1998)ATG>ATA	p.M666I	SEC16A_uc004chv.3_Missense_Mutation_p.M293I|SEC16A_uc004chw.2_Missense_Mutation_p.M666I|SEC16A_uc010nbn.2_Missense_Mutation_p.M666I|SEC16A_uc010nbo.1_Missense_Mutation_p.M666I	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	488					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AGAGGGTCTCCATGTTGTCTG	0.627													T	139370070	C	T	139370070	3	4	49	1	0	0	0	0	1	0	0	0	13986	594	21	4	5195	4	SEC16A	9	139370070	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	57545	139370070	1843361	822	39703											
NOTCH1	4851	broad.mit.edu	37	chr9	139393707	139393707	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggctcggttccggatcAggatctgggcaacagggaga	16	9	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:139393707A>G	uc004chz.2	-	32	5939	c.5939T>C	c.(5938-5940)CTG>CCG	p.L1980P		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1980	ANK 2.|Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTCCGGATCAGGATCTGGGC	0.657			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			G	139393707	A	G	139393707	3	3	49	1	0	0	0	0	1	0	0	0	10547	188	7	3	1740	3	NOTCH1	9	139393707	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	23637	139393707	1819724	823	39704											
NOTCH1	4851	broad.mit.edu	37	chr9	139411769	139411769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgatcttgtccaggcagcGgccattgtgcaggcaggggc	15	10	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:139411769G>A	uc004chz.2	-	9	1510	c.1510C>T	c.(1510-1512)CGC>TGC	p.R504C		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	504	Extracellular (Potential).|EGF-like 13; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCCAGGCAGCGGCCATTGTGC	0.682			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			A	139411769	G	A	139411769	3	1	49	1	0	0	0	0	1	0	0	0	10547	1116	39	1	6261	1	NOTCH1	9	139411769	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	18062	139411769	1801662	824	39705											
FAM69B	138311	broad.mit.edu	37	chr9	139616709	139616709	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgacaagcccacccggggcAcctccatcaaggaattccgg	10	15	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:139616709A>G	uc004cik.2	+	4	533	c.439A>G	c.(439-441)ACC>GCC	p.T147A	FAM69B_uc004cil.2_Missense_Mutation_p.T60A|SNHG7_uc004cim.2_RNA	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	hypothetical protein LOC138311	147	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		CACCCGGGGCACCTCCATCAA	0.627													G	139616709	A	G	139616709	3	3	49	1	0	0	0	0	1	0	0	0	5603	159	6	3	453	3	FAM69B	9	139616709	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	204940	139616709	1596722	825	39706											
C9orf142	286257	broad.mit.edu	37	chr9	139888236	139888236	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaagaaaccagctggtggCgtggacttcgatgagacctg	14	8	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:139888236C>T	uc004cki.2	+	7	620	c.594C>T	c.(592-594)GGC>GGT	p.G198G		NM_183241	NP_899064	Q9BUH6	CI142_HUMAN	hypothetical protein LOC286257	198											0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CAGCTGGTGGCGTGGACTTCG	0.617													T	139888236	C	T	139888236	2	4	49	1	0	0	0	0	0	0	0	1	2461	755	27	1		1	C9orf142	9	139888236	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	271527	139888236	1325195	826	39707											
UAP1L1	91373	broad.mit.edu	37	chr9	139975220	139975220	+	Frame_Shift_Del	DEL	C	C	-													agccagccgacagggacagtCcccgcaccgctcgccaggcc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:139975219_139975219TC>T	uc010ncb.3	+	6	1289	c.1257_1257TC>T	c.(1255-1257)agtfs	p.S419fs	UAP1L1_uc004cla.4_Frame_Shift_Del_p.S296fs	NM_207309	NP_997192	Q3KQV9	UAP1L_HUMAN	Homo sapiens UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 (UAP1L1), mRNA.	419							nucleotidyltransferase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		ACAGGGACAGTCCCCGCACCG	0.667													-	139975220	C	-	139975220	7	5	49	1	0	1	0	1	0	0	0	0	16823	855	30	0	1284	0	UAP1L1	9	139975220	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	86984	139975220	1238211	827	39708											
ANAPC2	29882	broad.mit.edu	37	chr9	140069716	140069716	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctccttctggtcggcCtgggaggccatgccggagtc	13	15	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:140069716C>A	uc004clr.1	-	12	2302	c.2229G>T	c.(2227-2229)CAG>CAT	p.Q743H	ANAPC2_uc004clq.1_Missense_Mutation_p.Q599H	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	anaphase-promoting complex subunit 2	743					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TCTGGTCGGCCTGGGAGGCCA	0.701													A	140069716	C	A	140069716	3	1	49	1	0	0	0	0	1	0	0	0	603	680	24	5	247	5	ANAPC2	9	140069716	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	94496	140069716	1143715	828	39709											
NDOR1	27158	broad.mit.edu	37	chr9	140109259	140109259	+	Frame_Shift_Del	DEL	C	C	-													tcaccctgcagatgtctcctCccccacgaggctgccccagc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:140109258_140109258TC>T	uc004clx.3	+	7	964	c.853_853TC>T	c.(853-855)tccfs	p.S285fs	NDOR1_uc004clw.3_Frame_Shift_Del_p.S285fs|NDOR1_uc011mes.2_Frame_Shift_Del_p.S285fs|NDOR1_uc004cly.3_Frame_Shift_Del_p.S251fs	NM_001144026	NP_001137498	Q9UHB4	NDOR1_HUMAN	Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA.	285	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding	p.S284S(1)		breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AGATGTCTCCTCCCCCACGAG	0.706													-	140109259	C	-	140109259	7	5	49	1	0	1	0	1	0	0	0	0	10249	855	30	0	884	0	NDOR1	9	140109259	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	39543	140109259	1104172	829	39710											
FAM166A	401565	broad.mit.edu	37	chr9	140139824	140139824	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcttccccgtatactgGgtgtcccaagtctctggagt	11	13	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:140139824G>T	uc004cmi.1	-	3	512	c.457C>A	c.(457-459)CCA>ACA	p.P153T		NM_001001710	NP_001001710	Q6J272	F166A_HUMAN	hypothetical protein LOC401565	153										ovary(1)	1						CCGTATACTGGGTGTCCCAAG	0.647													T	140139824	G	T	140139824	3	4	49	1	0	0	0	0	1	0	0	0	5481	1232	43	5	516	5	FAM166A	9	140139824	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	30565	140139824	1073607	830	39711											
ENTPD8	377841	broad.mit.edu	37	chr9	140329487	140329487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccgccactgagccggcGcatcggccgggatcatcccg	13	18	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:140329487G>A	uc004cmw.2	-	10	1551	c.1367C>T	c.(1366-1368)GCG>GTG	p.A456V	C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Missense_Mutation_p.A419V	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	456	Extracellular (Potential).					integral to membrane|plasma membrane	ATP binding			skin(1)	1	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CTGAGCCGGCGCATCGGCCGG	0.682													A	140329487	G	A	140329487	3	1	49	1	0	0	0	0	1	0	0	0	5145	1087	38	1	124	1	ENTPD8	9	140329487	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	189663	140329487	883944	831	39712											
DIP2C	22982	broad.mit.edu	37	chr10	395273	395273	+	Splice_Site	DEL	G	G	-													cccaccctgcgcctgtacctGgggggtagaccaaggccacg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:395272_395272TG>T	uc001ifp.3	-	25	3199	c.3109_splice	c.e25+1	p.G1037_splice	DIP2C_uc009xhi.1_Splice_Site_p.G423_splice	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	1037						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGCCTGTACCTGGGGGGTAGA	0.667													-	395273	G	-	395273	8	5	49	1	0	1	0	1	0	0	1	0	4529	1348	47	0	1615	0	DIP2C	10	395273	Splice_Site	DEL	G	TCGA-BR-7707-01A-11D-2053-08		395273	135139474	832	39713											
LARP4B	23185	broad.mit.edu	37	chr10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-													agataagcagaattccaatgTttttttaagtacttctcggg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:890939delT	uc001ifs.1	-	5	528	c.487delA	c.(487-489)ACAfs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	163	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						AATTCCAATGTTTTTTTAAGT	0.353													-	890939	T	-	890939	7	5	49	1	0	1	0	1	0	0	0	0	8631	1725	60	0	1781	0	LARP4B	10	890939	Frame_Shift_Del	DEL	T	TCGA-BR-7707-01A-11D-2053-08	495666	890939	134643808	833	39714											
IDI2	91734	broad.mit.edu	37	chr10	1070565	1070565	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcaattcctcttggtgtcGgcaccaataaccttatcatt	7	11	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:1070565G>T	uc001ifv.1	-	2	164	c.99C>A	c.(97-99)GCC>GCA	p.A33A	C10orf110_uc010qaf.1_Intron|C10orf110_uc001ifx.3_Intron|C10orf110_uc001ifw.3_Intron|C10orf110_uc001ify.3_Intron	NM_033261	NP_150286	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	33					carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding				0		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		TCTTGGTGTCGGCACCAATAA	0.478													T	1070565	G	T	1070565	2	4	49	1	0	0	0	0	0	0	0	1	7500	1103	39	5		5	IDI2	10	1070565	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	179626	1070565	134464182	834	39715											
FBXO18	84893	broad.mit.edu	37	chr10	5948257	5948257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggctaccgggaccagcCggtgggatggagtttctaag	15	10	1	0	rs150913018		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:5948257C>T	uc001iis.2	+	3	510	c.415C>T	c.(415-417)CGG>TGG	p.R139W	FBXO18_uc001iir.2_Missense_Mutation_p.R65W|FBXO18_uc009xig.2_Missense_Mutation_p.R65W|FBXO18_uc001iit.2_Missense_Mutation_p.R190W	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	139	F-box.				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						CGGGACCAGCCGGTGGGATGG	0.617													T	5948257	C	T	5948257	3	4	49	1	0	0	0	0	1	0	0	0	5731	643	23	1	587	1	FBXO18	10	5948257	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	4877692	5948257	129586490	835	39716											
FRMD4A	55691	broad.mit.edu	37	chr10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-													ggatgtggtgggggctgcttGggggggtggctccaatttca							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:13696451_13696451TG>T	uc001ims.3	-	22	3367	c.3015_3015CA>A	c.(3013-3015)ccafs	p.P1005fs	PRPF18_uc001imq.3_Intron|FRMD4A_uc009xjf.1_Frame_Shift_Del_p.P1005fs	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	1005	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGG	0.532													-	13696452	G	-	13696452	7	5	49	1	0	1	0	1	0	0	0	0	6051	1348	47	0	113	0	FRMD4A	10	13696452	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	7748195	13696452	121838295	836	39717											
NMT2	9397	broad.mit.edu	37	chr10	15175100	15175100	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcggaacatattgtcatcaTcttctacgtaattctcattt	4	9	5	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:15175100T>C	uc001inz.1	-	5	638	c.554A>G	c.(553-555)GAT>GGT	p.D185G	NMT2_uc001ioa.1_Missense_Mutation_p.D172G|NMT2_uc009xjo.1_Missense_Mutation_p.D185G|NMT2_uc010qbz.1_5'UTR	NM_004808	NP_004799	O60551	NMT2_HUMAN	N-myristoyltransferase 2	185					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			ovary(1)	1						ATTGTCATCATCTTCTACGTA	0.418													C	15175100	T	C	15175100	3	2	49	1	0	0	0	0	1	0	0	0	10504	1435	50	3	974	3	NMT2	10	15175100	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1478648	15175100	120359647	837	39718											
CUBN	8029	broad.mit.edu	37	chr10	17146585	17146585	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacctgagtcacacttacaaAaataaccagagacagtgtcc	6	11	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:17146585A>C	uc001ioo.2	-	12	1302	c.1250T>G	c.(1249-1251)TTT>TGT	p.F417C		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	417	EGF-like 6.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACACTTACAAAAATAACCAGA	0.373													C	17146585	A	C	17146585	3	2	49	1	0	0	0	0	1	0	0	0	4051	14	1	5	9845	5	CUBN	10	17146585	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1971485	17146585	118388162	838	39719											
ST8SIA6	338596	broad.mit.edu	37	chr10	17363172	17363172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagatctttcaggtacttgGgatggaaaaatagaaccttt	9	7	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:17363172G>A	uc001ipd.2	-	8	902	c.902C>T	c.(901-903)CCC>CTC	p.P301L	ST8SIA6_uc010qce.1_RNA	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide	301	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(1)	1						CAGGTACTTGGGATGGAAAAA	0.468													A	17363172	G	A	17363172	3	1	49	1	0	0	0	0	1	0	0	0	15235	1232	43	4	298	4	ST8SIA6	10	17363172	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	216587	17363172	118171575	839	39720											
CACNB2	783	broad.mit.edu	37	chr10	18828510	18828510	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accgttcccgggacgtggatCgagagcaggaccacaacgag	14	12	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:18828510C>T	uc001ipr.2	+	14	1900	c.1840C>T	c.(1840-1842)CGA>TGA	p.R614*	CACNB2_uc009xjz.1_Nonsense_Mutation_p.R364*|CACNB2_uc001ips.2_Nonsense_Mutation_p.R590*|CACNB2_uc001ipt.2_Nonsense_Mutation_p.R576*|CACNB2_uc001ipu.2_Nonsense_Mutation_p.R586*|CACNB2_uc001ipv.2_Nonsense_Mutation_p.R562*|CACNB2_uc009xka.1_Nonsense_Mutation_p.R548*|CACNB2_uc001ipw.2_Nonsense_Mutation_p.R521*|CACNB2_uc001ipx.2_Nonsense_Mutation_p.R559*|CACNB2_uc001ipz.2_Nonsense_Mutation_p.R536*|CACNB2_uc001ipy.2_Nonsense_Mutation_p.R560*|CACNB2_uc010qco.1_Nonsense_Mutation_p.R528*|CACNB2_uc001iqa.2_Nonsense_Mutation_p.R566*|NSUN6_uc001iqb.2_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	614					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGACGTGGATCGAGAGCAGGA	0.552													T	18828510	C	T	18828510	4	4	49	1	0	0	0	0	0	1	0	0	2553	876	31	1	2204	1	CACNB2	10	18828510	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1465338	18828510	116706237	840	39721											
PLXDC2	84898	broad.mit.edu	37	chr10	20465998	20465998	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaaattaccaacatttcGgctgtggagatgaccccatt	7	10	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:20465998G>A	uc001iqg.1	+	8	1591	c.954G>A	c.(952-954)TCG>TCA	p.S318S	PLXDC2_uc001iqh.1_Silent_p.S269S|PLXDC2_uc009xkc.1_RNA	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	318	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						CCAACATTTCGGCTGTGGAGA	0.323													A	20465998	G	A	20465998	2	1	49	1	0	0	0	0	0	0	0	1	12118	1103	39	1		1	PLXDC2	10	20465998	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1637488	20465998	115068749	841	39722											
PIP4K2A	5305	broad.mit.edu	37	chr10	22880634	22880634	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgatgatgtatcttttgTcgtaggaagtgtgaaaacga	11	4	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:22880634T>C	uc001irl.3	-	4	664	c.416A>G	c.(415-417)GAC>GGC	p.D139G	PIP4K2A_uc010qcu.1_5'UTR	NM_005028	NP_005019	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	139	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			ovary(1)|skin(1)	2						GTATCTTTTGTCGTAGGAAGT	0.498													C	22880634	T	C	22880634	3	2	49	1	0	0	0	0	1	0	0	0	11936	1667	58	3	832	3	PIP4K2A	10	22880634	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	2414636	22880634	112654113	842	39723											
ARMC3	219681	broad.mit.edu	37	chr10	23319585	23319585	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagaggttatggtggtAccaaaatttgttggtgaagg	16	2	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:23319585A>G	uc001irm.3	+	17	2189	c.2106A>G	c.(2104-2106)GTA>GTG	p.V702V	ARMC3_uc010qcv.1_Silent_p.V695V|ARMC3_uc010qcw.1_Silent_p.V439V	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	702							binding				0						TTATGGTGGTACCAAAATTTG	0.299													G	23319585	A	G	23319585	2	3	49	1	0	0	0	0	0	0	0	1	952	378	14	3		3	ARMC3	10	23319585	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	438951	23319585	112215162	843	39724											
KIAA1217	56243	broad.mit.edu	37	chr10	24669902	24669902	+	Frame_Shift_Del	DEL	G	G	-													tctttggaagccatgtctgaGggggatgctccaaccccttt							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:24669901_24669901AG>A	uc001iru.4	+	2	861	c.458_458AG>A	c.(457-459)gagfs	p.E153fs	KIAA1217_uc001irs.3_Frame_Shift_Del_p.E73fs|KIAA1217_uc001irt.4_Frame_Shift_Del_p.E153fs|KIAA1217_uc010qcy.2_Frame_Shift_Del_p.E153fs|KIAA1217_uc010qcz.2_Frame_Shift_Del_p.E153fs|KIAA1217_uc001irv.1_Frame_Shift_Del_p.E3fs|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	153					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GCCATGTCTGAGGGGGATGCT	0.557													-	24669902	G	-	24669902	7	5	49	1	0	1	0	1	0	0	0	0	8216	991	35	0	469	0	KIAA1217	10	24669902	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	1350317	24669902	110864845	844	39725											
KIAA1217	56243	broad.mit.edu	37	chr10	24832970	24832970	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctcactcaagccattcgcAccggaactaaaacagggaag	8	13	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:24832970A>G	uc001iru.3	+	19	5174	c.4771A>G	c.(4771-4773)ACC>GCC	p.T1591A	KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Missense_Mutation_p.T1274A|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.T427A	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1591					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						AGCCATTCGCACCGGAACTAA	0.483													G	24832970	A	G	24832970	3	3	49	1	0	0	0	0	1	0	0	0	8216	159	6	3	4845	3	KIAA1217	10	24832970	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	163068	24832970	110701777	845	39726											
KIAA1217	56243	broad.mit.edu	37	chr10	24834018	24834018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccaaactgcaggatcccCgccaatatcgtcaggtagtt	9	12	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:24834018C>T	uc001iru.3	+	20	5723	c.5320C>T	c.(5320-5322)CGC>TGC	p.R1774C	KIAA1217_uc001irs.2_Missense_Mutation_p.R1095C|KIAA1217_uc001irt.3_Missense_Mutation_p.R1140C|KIAA1217_uc010qcy.1_Missense_Mutation_p.R1205C|KIAA1217_uc010qcz.1_Missense_Mutation_p.R1180C|KIAA1217_uc001irw.2_Missense_Mutation_p.R924C|KIAA1217_uc001irz.2_Missense_Mutation_p.R858C|KIAA1217_uc001irx.2_Missense_Mutation_p.R1457C|KIAA1217_uc001iry.2_Missense_Mutation_p.R898C	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1774					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						GCAGGATCCCCGCCAATATCG	0.502													T	24834018	C	T	24834018	3	4	49	1	0	0	0	0	1	0	0	0	8216	652	23	1	5398	1	KIAA1217	10	24834018	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1048	24834018	110700729	846	39727											
KIAA1217	56243	broad.mit.edu	37	chr10	24835181	24835181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaccatccatactcccagCctcaccagctacaaggcaca	6	17	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:24835181C>T	uc001iru.3	+	21	6163	c.5760C>T	c.(5758-5760)AGC>AGT	p.S1920S	KIAA1217_uc001irs.2_Silent_p.S1241S|KIAA1217_uc001irt.3_Silent_p.S1286S|KIAA1217_uc010qcy.1_Silent_p.S1351S|KIAA1217_uc010qcz.1_Silent_p.S1326S|KIAA1217_uc001irw.2_3'UTR|KIAA1217_uc001irz.2_3'UTR|KIAA1217_uc001irx.2_3'UTR|KIAA1217_uc001iry.2_3'UTR	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1920					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						ATACTCCCAGCCTCACCAGCT	0.368													T	24835181	C	T	24835181	2	4	49	1	0	0	0	0	0	0	0	1	8216	738	26	2		2	KIAA1217	10	24835181	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1163	24835181	110699566	847	39728											
MYO3A	53904	broad.mit.edu	37	chr10	26455050	26455050	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccgcatgagccctgacacCtgtgccaccattttggaaaa	8	15	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:26455050C>A	uc001isn.2	+	27	3414	c.3054C>A	c.(3052-3054)ACC>ACA	p.T1018T	MYO3A_uc009xko.1_Silent_p.T1018T|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1018	Myosin head-like.				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						GCCCTGACACCTGTGCCACCA	0.423													A	26455050	C	A	26455050	2	1	49	1	0	0	0	0	0	0	0	1	10076	668	24	5		5	MYO3A	10	26455050	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1619869	26455050	109079697	848	39729											
PTCHD3	374308	broad.mit.edu	37	chr10	27702951	27702952	+	Frame_Shift_Ins	INS	-	-	G													tcgtccagcatcgacggccgINSggggggtgcatcgtccccct							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:27702950_27702951C>CG	uc001itu.2	-	0	347_348	c.229_230G>CG	c.(229-231)cggfs	p.R77fs		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	77					spermatid development	integral to membrane	hedgehog receptor activity	p.P76S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CATCGACGGCCGGGGGGGTGCA	0.718													G	27702952	-	G	27702951	7	5	49	1	0	1	1	0	0	0	0	0	12734	1115	39	0	2090	0	PTCHD3	10	27702951	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	1247901	27702951	107831796	849	39730											
SVIL	6840	broad.mit.edu	37	chr10	29762771	29762772	+	Frame_Shift_Ins	INS	-	-	C													ctccccaggactcacctgggINScccccctttcctcgtccagc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:29762771_29762772insC	uc001iut.1	-	30	6277_6278	c.5524_5525insG	c.(5524-5526)GCCfs	p.A1842fs	LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Frame_Shift_Ins_p.A756fs|SVIL_uc001iuu.1_Frame_Shift_Ins_p.A1416fs	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1842	Gelsolin-like 3.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				ACTCACCTGGGCCCCCCTTTCC	0.639													C	29762772	-	C	29762771	7	5	49	1	0	1	1	0	0	0	0	0	15418	1203	42	0	1155	0	SVIL	10	29762771	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	2059820	29762771	105771976	850	39731	132	2									
SVIL	6840	broad.mit.edu	37	chr10	29762772	29762773	+	Frame_Shift_Ins	INS	-	-	C													tccccaggactcacctgggcINSccccctttcctcgtccagct							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:29762771_29762772G>GC	uc001iut.1	-	29	6277_6278	c.5524_5525C>GC	c.(5524-5526)gccfs	p.A1842fs	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Frame_Shift_Ins_p.A756fs|SVIL_uc001iuu.1_Frame_Shift_Ins_p.A1416fs	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1842					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACTCACCTGGGCCCCCCTTTCC	0.639													C	29762773	-	C	29762772	7	5	49	1	0	1	1	0	0	0	0	0	15418	739	26	0	1156	0	SVIL	10	29762772	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	1	29762772	105771975	851	39732	132	2									
ZNF248	57209	broad.mit.edu	37	chr10	38121220	38121220	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaattactcccattttcatTgtaatcataagactttcccc	3	11	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:38121220T>C	uc001izd.1	-	6	1562	c.1063A>G	c.(1063-1065)AAT>GAT	p.N355D	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.N355D	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCATTTTCATTGTAATCATAA	0.393													C	38121220	T	C	38121220	3	2	49	1	0	0	0	0	1	0	0	0	17790	1812	63	3	680	3	ZNF248	10	38121220	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	8358448	38121220	97413527	852	39733											
ZNF37A	7587	broad.mit.edu	37	chr10	38406985	38406985	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaccctatgaatgtcaTgaatgtgggaagaccttcta	10	7	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:38406985T>C	uc001izk.2	+	8	1725	c.906T>C	c.(904-906)CAT>CAC	p.H302H	ZNF37A_uc001izl.2_Silent_p.H302H|ZNF37A_uc001izm.2_Silent_p.H302H	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN	zinc finger protein 37a	302	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)	1						ATGAATGTCATGAATGTGGGA	0.413													C	38406985	T	C	38406985	2	2	49	1	0	0	0	0	0	0	0	1	17869	1461	51	3		3	ZNF37A	10	38406985	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	285765	38406985	97127762	853	39734											
OGDHL	55753	broad.mit.edu	37	chr10	50946001	50946001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggagactcaccggcttgcGgaagggcagcaggatctgcc	15	12	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:50946001G>A	uc001jie.2	-	19	2651	c.2509C>T	c.(2509-2511)CGC>TGC	p.R837C	OGDHL_uc009xog.2_Missense_Mutation_p.R864C|OGDHL_uc010qgt.1_Missense_Mutation_p.R780C|OGDHL_uc010qgu.1_Missense_Mutation_p.R628C	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	837					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R837L(1)		pancreas(1)	1						ACCGGCTTGCGGAAGGGCAGC	0.652													A	50946001	G	A	50946001	3	1	49	1	0	0	0	0	1	0	0	0	10840	1116	39	1	543	1	OGDHL	10	50946001	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	12539016	50946001	84588746	854	39735											
DKK1	22943	broad.mit.edu	37	chr10	54074807	54074807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgaaaacgctgcatgcGtcacgctatgtgctgccccg	12	15	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:54074807G>A	uc001jjr.2	+	2	522	c.368G>A	c.(367-369)CGT>CAT	p.R123H	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	dickkopf homolog 1 precursor	123	DKK-type Cys-1.				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						CGCTGCATGCGTCACGCTATG	0.562											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	54074807	G	A	54074807	3	1	49	1	0	0	0	0	1	0	0	0	4544	1145	40	1	374	1	DKK1	10	54074807	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	3128806	54074807	81459940	855	39736											
SLC16A9	220963	broad.mit.edu	37	chr10	61412656	61412656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcccagcaggacgcagaaGccactaaaataaaatgcaat	7	12	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:61412656G>A	uc010qig.1	-	6	1853	c.1404C>T	c.(1402-1404)GGC>GGT	p.G468G		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	solute carrier family 16 (monocarboxylic acid	468	Helical; (Potential).				urate metabolic process	integral to membrane|plasma membrane	symporter activity			skin(2)|ovary(1)	3						GGACGCAGAAGCCACTAAAAT	0.433													A	61412656	G	A	61412656	2	1	49	1	0	0	0	0	0	0	0	1	14415	958	34	2		2	SLC16A9	10	61412656	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	7337849	61412656	74122091	856	39737											
ANK3	288	broad.mit.edu	37	chr10	61846435	61846435	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcagtgacttaaccaaacCtgtaatgctacagagaagac	8	10	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:61846435C>A	uc001jky.2	-	30	3940	c.3748G>T	c.(3748-3750)GGG>TGG	p.G1250W	ANK3_uc001jkw.2_Missense_Mutation_p.G384W|ANK3_uc009xpa.2_Missense_Mutation_p.G384W|ANK3_uc001jkx.2_Missense_Mutation_p.G428W|ANK3_uc010qih.1_Missense_Mutation_p.G1251W|ANK3_uc001jkz.3_Missense_Mutation_p.G1244W|ANK3_uc001jla.1_Missense_Mutation_p.G316W|ANK3_uc001jlb.1_Missense_Mutation_p.G768W	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1250					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TTAACCAAACCTGTAATGCTA	0.423													A	61846435	C	A	61846435	3	1	49	1	0	0	0	0	1	0	0	0	622	695	24	5	9754	5	ANK3	10	61846435	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	433779	61846435	73688312	857	39738											
TET1	80312	broad.mit.edu	37	chr10	70426987	70426987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatacaatgggcaccctacCgacagaagatgcaccctcaa	7	14	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:70426987C>T	uc001jok.3	+	7	5152	c.4647C>T	c.(4645-4647)ACC>ACT	p.T1549T		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1549					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						GGCACCCTACCGACAGAAGAT	0.418													T	70426987	C	T	70426987	2	4	49	1	0	0	0	0	0	0	0	1	15766	639	23	1		1	TET1	10	70426987	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	8580552	70426987	65107760	858	39739											
TET1	80312	broad.mit.edu	37	chr10	70450635	70450635	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattttatcttaaaaagttcAgacaacactaaaacttattc	2	8	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:70450635A>G	uc001jok.3	+	12	5980	c.5475A>G	c.(5473-5475)TCA>TCG	p.S1825S		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1825					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						TAAAAAGTTCAGACAACACTA	0.458													G	70450635	A	G	70450635	2	3	49	1	0	0	0	0	0	0	0	1	15766	175	7	3		3	TET1	10	70450635	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	23648	70450635	65084112	859	39740											
DDX50	79009	broad.mit.edu	37	chr10	70696828	70696828	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcatcaagctttgaaccaCgatctttgatcacctctgat	7	11	4	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:70696828C>T	uc001jou.2	+	12	1839	c.1732C>T	c.(1732-1734)CGA>TGA	p.R578*	DDX50_uc010qjc.1_Nonsense_Mutation_p.R578*	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	nucleolar protein GU2	578						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1						CTTTGAACCACGATCTTTGAT	0.398													T	70696828	C	T	70696828	4	4	49	1	0	0	0	0	0	1	0	0	4368	528	19	1	1778	1	DDX50	10	70696828	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	246193	70696828	64837919	860	39741											
SUPV3L1	6832	broad.mit.edu	37	chr10	70968476	70968476	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgattaaaatgtctgagacGcataagctgttgaatttgga	10	4	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:70968476G>T	uc001jpe.1	+	15	2101	c.2046G>T	c.(2044-2046)ACG>ACT	p.T682T	SUPV3L1_uc010qjd.1_Silent_p.T551T	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 precursor	682	Interaction with HBXIP, important for protein stability.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			urinary_tract(1)|ovary(1)	2						TGTCTGAGACGCATAAGCTGT	0.448													T	70968476	G	T	70968476	2	4	49	1	0	0	0	0	0	0	0	1	15399	1074	38	5		5	SUPV3L1	10	70968476	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	271648	70968476	64566271	861	39742											
SGPL1	8879	broad.mit.edu	37	chr10	72630885	72630885	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcatggtgtaatagatccTgtccctgaagtggccaaggt	11	10	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:72630885T>C	uc001jrm.2	+	10	1113	c.891T>C	c.(889-891)CCT>CCC	p.P297P	SGPL1_uc009xqk.2_RNA	NM_003901	NP_003892	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	297	Cytoplasmic (Potential).				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity				0					Pyridoxal Phosphate(DB00114)	TAATAGATCCTGTCCCTGAAG	0.438													C	72630885	T	C	72630885	2	2	49	1	0	0	0	0	0	0	0	1	14218	1567	55	3		3	SGPL1	10	72630885	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1662409	72630885	62903862	862	39743											
CDH23	64072	broad.mit.edu	37	chr10	73567408	73567408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcagctggacacctccccGtggaccctccccaaccctcg	8	21	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:73567408G>A	uc001jrx.3	+	57	8821	c.8444G>A	c.(8443-8445)CGT>CAT	p.R2815H	CDH23_uc001jsg.3_Missense_Mutation_p.R575H|CDH23_uc001jsh.3_Missense_Mutation_p.R575H|CDH23_uc001jsi.3_Missense_Mutation_p.R575H	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	2815	Cadherin 26.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						ACACCTCCCCGTGGACCCTCC	0.622													A	73567408	G	A	73567408	3	1	49	1	0	0	0	0	1	0	0	0	3108	1145	40	1	9019	1	CDH23	10	73567408	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	936523	73567408	61967339	863	39744											
OIT3	170392	broad.mit.edu	37	chr10	74658557	74658557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaccacttcacgggcatggCgggagatgccatgcctacct	12	13	1	1	rs141122150		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:74658557C>T	uc001jte.1	+	2	415	c.197C>T	c.(196-198)GCG>GTG	p.A66V	OIT3_uc009xqs.1_RNA	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	oncoprotein-induced transcript 3 precursor	66						nuclear envelope	calcium ion binding			ovary(2)	2	Prostate(51;0.0198)					ACGGGCATGGCGGGAGATGCC	0.567													T	74658557	C	T	74658557	3	4	49	1	0	0	0	0	1	0	0	0	10849	768	27	1	203	1	OIT3	10	74658557	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1091149	74658557	60876190	864	39745											
CAMK2G	818	broad.mit.edu	37	chr10	75620588	75620588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccatgcccaggcactcacCgatgtttggatgtttcagaa	9	12	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:75620588C>T	uc001jvv.1	-	3	320	c.196G>A	c.(196-198)GTG>ATG	p.V66M	CAMK2G_uc001jvm.1_Missense_Mutation_p.V74M|CAMK2G_uc001jvo.1_Missense_Mutation_p.V74M|CAMK2G_uc001jvq.1_Missense_Mutation_p.V74M|CAMK2G_uc001jvr.1_Missense_Mutation_p.V74M|CAMK2G_uc001jvp.1_Missense_Mutation_p.V74M|CAMK2G_uc001jvs.1_Missense_Mutation_p.V74M|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Missense_Mutation_p.V74M|CAMK2G_uc010qkv.1_5'UTR	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	74	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)					AGGCACTCACCGATGTTTGGA	0.453													T	75620588	C	T	75620588	3	4	49	1	0	0	0	0	1	0	0	0	2602	666	23	1	1626	1	CAMK2G	10	75620588	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	962031	75620588	59914159	865	39746											
VCL	7414	broad.mit.edu	37	chr10	75843188	75843188	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaagttggtgaactctgTgcaggcaaagaacgcaggga	15	6	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:75843188T>C	uc001jwd.2	+	8	1033	c.939T>C	c.(937-939)TGT>TGC	p.C313C	VCL_uc009xrr.2_Silent_p.C62C|VCL_uc010qky.1_Silent_p.C220C|VCL_uc001jwe.2_Silent_p.C313C|VCL_uc010qkz.1_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	313	1.|N-terminal globular head.|3 X 112 AA tandem repeats.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)					GTGAACTCTGTGCAGGCAAAG	0.458													C	75843188	T	C	75843188	2	2	49	1	0	0	0	0	0	0	0	1	17136	1702	59	3		3	VCL	10	75843188	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	222600	75843188	59691559	866	39747											
ZMIZ1	57178	broad.mit.edu	37	chr10	81051995	81051995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgacttcactcagcccgCggcagccgctgcagcagcgg	13	16	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:81051995C>T	uc001kaf.2	+	11	1411	c.839C>T	c.(838-840)GCG>GTG	p.A280V	ZMIZ1_uc001kag.2_Missense_Mutation_p.A156V|ZMIZ1_uc001kah.1_Missense_Mutation_p.A156V	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	280	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ACTCAGCCCgcggcagccgct	0.522													T	81051995	C	T	81051995	3	4	49	1	0	0	0	0	1	0	0	0	17693	768	27	1	865	1	ZMIZ1	10	81051995	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	5208807	81051995	54482752	867	39748											
ZMIZ1	57178	broad.mit.edu	37	chr10	81060696	81060696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaccgtcacggcctgctgCtgcgtgagtgtggtgggcca	15	12	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:81060696C>T	uc001kaf.2	+	17	2588	c.2016C>T	c.(2014-2016)TGC>TGT	p.C672C	ZMIZ1_uc001kag.2_Silent_p.C548C	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	672					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CGGCCTGCTGCTGCGTGAGTG	0.647													T	81060696	C	T	81060696	2	4	49	1	0	0	0	0	0	0	0	1	17693	805	28	2		2	ZMIZ1	10	81060696	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	8701	81060696	54474051	868	39749											
ZMIZ1	57178	broad.mit.edu	37	chr10	81067262	81067262	+	Frame_Shift_Del	DEL	C	C	-													gggcccccccagctctcccaCcccccggacatgcccaacaa							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:81067261_81067261AC>A	uc001kaf.2	+	22	3340	c.2768_2768AC>A	c.(2767-2769)cacfs	p.H923fs	ZMIZ1_uc001kag.2_Frame_Shift_Del_p.H799fs|ZMIZ1_uc010qlq.1_Frame_Shift_Del_p.H76fs	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	923	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAGCTCTCCCACCCCCCGGAC	0.607													-	81067262	C	-	81067262	7	5	49	1	0	1	0	1	0	0	0	0	17693	506	18	0	2843	0	ZMIZ1	10	81067262	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	6566	81067262	54467485	869	39750											
CDHR1	92211	broad.mit.edu	37	chr10	85973974	85973974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaccgccaccttctggcGcaacaagaagtctaacaagg	8	15	2	1	rs142917517		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:85973974G>A	uc001kcv.2	+	17	2177	c.2177G>A	c.(2176-2178)CGC>CAC	p.R726H	CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Missense_Mutation_p.R430H|CDHR1_uc001kcx.2_Missense_Mutation_p.R40H	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	726	Cytoplasmic (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						ACCTTCTGGCGCAACAAGAAG	0.642													A	85973974	G	A	85973974	3	1	49	1	0	0	0	0	1	0	0	0	3118	1087	38	1	2243	1	CDHR1	10	85973974	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4906712	85973974	49560773	870	39751											
PAPSS2	9060	broad.mit.edu	37	chr10	89487166	89487166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtagctatcttacgagacGctgaattctatgaacacaga	10	8	2	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:89487166G>A	uc001kex.2	+	8	1254	c.991G>A	c.(991-993)GCT>ACT	p.A331T	PAPSS2_uc001kew.2_Missense_Mutation_p.A336T|PAPSS2_uc009xtg.1_RNA	NM_004670	NP_004661	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	331	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|skin(1)	2		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CTTACGAGACGCTGAATTCTA	0.493													A	89487166	G	A	89487166	3	1	49	1	0	0	0	0	1	0	0	0	11435	1087	38	1	1040	1	PAPSS2	10	89487166	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	3513192	89487166	46047581	871	39752											
CH25H	9023	broad.mit.edu	37	chr10	90966256	90966256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctgggacagatgcagtcCgcagcgttcccagtattttg	13	11	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:90966256C>T	uc001kfz.2	-	1	816	c.794G>A	c.(793-795)CGG>CAG	p.R265Q		NM_003956	NP_003947	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	265					bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding				0		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		AGATGCAGTCCGCAGCGTTCC	0.557													T	90966256	C	T	90966256	3	4	49	1	0	0	0	0	1	0	0	0	3307	652	23	1	28	1	CH25H	10	90966256	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1479090	90966256	44568491	872	39753											
IFIT5	24138	broad.mit.edu	37	chr10	91177661	91177661	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgcagaagctgaaggggaAaagtatattgaagaaatcct	11	5	0	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:91177661A>G	uc010qnh.1	+	2	936	c.705A>G	c.(703-705)GAA>GAG	p.E235E	IFIT5_uc010qng.1_Silent_p.E187E	NM_012420	NP_036552	Q13325	IFIT5_HUMAN	interferon-induced protein with	235							binding				0						CTGAAGGGGAAAAGTATATTG	0.423													G	91177661	A	G	91177661	2	3	49	1	0	0	0	0	0	0	0	1	7525	11	1	3		3	IFIT5	10	91177661	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	211405	91177661	44357086	873	39754											
SLC16A12	387700	broad.mit.edu	37	chr10	91192956	91192956	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagattctttggcaatgaaCtgcaactgggtttttctcat	8	8	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:91192956C>A	uc001kgm.2	-	8	1717	c.1326G>T	c.(1324-1326)CAG>CAT	p.Q442H	SLC16A12_uc001kgl.2_Missense_Mutation_p.Q114H	NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	solute carrier family 16 (monocarboxylic acid	442	Extracellular (Potential).					integral to membrane|plasma membrane	symporter activity			skin(1)	1						TGGCAATGAACTGCAACTGGG	0.423													A	91192956	C	A	91192956	3	1	49	1	0	0	0	0	1	0	0	0	14405	564	20	5	138	5	SLC16A12	10	91192956	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	15295	91192956	44341791	874	39755											
HTR7	3363	broad.mit.edu	37	chr10	92502258	92502258	+	Frame_Shift_Del	DEL	T	T	-													ttcaatcatgaatcatgaccTttttttctacagtagtcagc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:92502257_92502257CT>C	uc001kha.3	-	3	1665	c.1422_1422AG>G	c.(1420-1422)aagfs	p.K474fs	HTR7_uc001kgz.3_Frame_Shift_Del_p.G442fs|HTR7_uc001khb.3_3'UTR	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	474					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GAATCATGACCTTTTTTTCTA	0.328													-	92502258	T	-	92502258	7	5	49	1	0	1	0	1	0	0	0	0	7452	1609	56	0	22	0	HTR7	10	92502258	Frame_Shift_Del	DEL	T	TCGA-BR-7707-01A-11D-2053-08	1309302	92502258	43032489	875	39756											
MYOF	26509	broad.mit.edu	37	chr10	95157162	95157162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccttgatctgaagattgaCgacctgattccactctgggt	9	10	2	5			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:95157162C>T	uc001kin.2	-	14	1396	c.1273G>A	c.(1273-1275)GTC>ATC	p.V425I	MYOF_uc001kio.2_Missense_Mutation_p.V425I|MYOF_uc001kip.3_Missense_Mutation_p.V425I|MYOF_uc009xuf.2_Missense_Mutation_p.V407I	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	425	Cytoplasmic (Potential).|C2 3.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						TGAAGATTGACGACCTGATTC	0.294													T	95157162	C	T	95157162	3	4	49	1	0	0	0	0	1	0	0	0	10089	536	19	1	5076	1	MYOF	10	95157162	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2654904	95157162	40377585	876	39757											
C10orf129	142827	broad.mit.edu	37	chr10	96967067	96967067	+	Frame_Shift_Del	DEL	C	C	-													tgtggctaatgaagctatggCcccagttgtaaactctgccg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:96967066_96967066GC>G	uc001kke.3	+	3	630	c.505_505GC>G	c.(505-507)gccfs	p.A169fs	C10orf129_uc009xuu.1_Frame_Shift_Del_p.A79fs	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	169					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TGAAGCTATGGCCCCAGTTGT	0.498													-	96967067	C	-	96967067	7	5	49	1	0	1	0	1	0	0	0	0	1593	739	26	0	516	0	C10orf129	10	96967067	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	1809905	96967067	38567680	877	39758											
ALDH18A1	5832	broad.mit.edu	37	chr10	97402812	97402812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcccctcgggtcaccacGgcactgccgagcttcaccac	8	19	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:97402812G>A	uc001kkz.2	-	3	482	c.240C>T	c.(238-240)GCC>GCT	p.A80A	ALDH18A1_uc001kky.2_Silent_p.A80A|ALDH18A1_uc010qog.1_Intron|ALDH18A1_uc010qoh.1_Intron	NM_002860	NP_002851	P54886	P5CS_HUMAN	pyrroline-5-carboxylate synthetase isoform 1	80	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			pancreas(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	GGGTCACCACGGCACTGCCGA	0.532													A	97402812	G	A	97402812	2	1	49	1	0	0	0	0	0	0	0	1	489	1103	39	1		1	ALDH18A1	10	97402812	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	435745	97402812	38131935	878	39759											
CCNJ	54619	broad.mit.edu	37	chr10	97817760	97817760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcagtatcgccatcctaCgtcagaacaaccaagctgtc	7	14	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:97817760C>T	uc001klm.2	+	6	1240	c.881C>T	c.(880-882)ACG>ATG	p.T294M	uc001klg.1_Intron|uc001klj.1_Intron|uc009xvb.1_Intron|CCNJ_uc010qoq.1_Missense_Mutation_p.T305M|CCNJ_uc001kln.2_Missense_Mutation_p.T293M	NM_019084	NP_061957	Q5T5M9	CCNJ_HUMAN	cyclin J isoform 2	294						nucleus				ovary(1)	1				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		CGCCATCCTACGTCAGAACAA	0.507													T	97817760	C	T	97817760	3	4	49	1	0	0	0	0	1	0	0	0	2928	536	19	1	932	1	CCNJ	10	97817760	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	414948	97817760	37716987	879	39760											
TM9SF3	56889	broad.mit.edu	37	chr10	98336438	98336438	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attccaattcaaccccttgaAgtgcttctcccagagtttca	5	13	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:98336438A>C	uc001kmm.3	-	2	468	c.251T>G	c.(250-252)CTT>CGT	p.L84R	TM9SF3_uc010qot.1_Missense_Mutation_p.L84R	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	84						integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		AACCCCTTGAAGTGCTTCTCC	0.333													C	98336438	A	C	98336438	3	2	49	1	0	0	0	0	1	0	0	0	15976	72	3	5	1574	5	TM9SF3	10	98336438	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	518678	98336438	37198309	880	39761											
SLIT1	6585	broad.mit.edu	37	chr10	98766417	98766417	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggccccattctggcactcAgtcccctcacaggggctctt	9	16	4	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:98766417A>G	uc001kmw.2	-	32	3654	c.3402T>C	c.(3400-3402)ACT>ACC	p.T1134T		NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	1134	EGF-like 6.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCTGGCACTCAGTCCCCTCAC	0.607													G	98766417	A	G	98766417	2	3	49	1	0	0	0	0	0	0	0	1	14739	175	7	3		3	SLIT1	10	98766417	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	429979	98766417	36768330	881	39762											
CRTAC1	55118	broad.mit.edu	37	chr10	99677300	99677300	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcagccacatctctgagCgccagaatgccccgggagag	12	14	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:99677300C>T	uc001kou.1	-	5	1028	c.672G>A	c.(670-672)GCG>GCA	p.A224A	CRTAC1_uc001kov.2_Silent_p.A213A|CRTAC1_uc001kot.1_Silent_p.A14A	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	224						proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CATCTCTGAGCGCCAGAATGC	0.577													T	99677300	C	T	99677300	2	4	49	1	0	0	0	0	0	0	0	1	3896	755	27	1		1	CRTAC1	10	99677300	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	910883	99677300	35857447	882	39763											
COX15	1355	broad.mit.edu	37	chr10	101476115	101476115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtttatacctgtgtatacGccaaagccagcagagtcact	9	10	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:101476115G>A	uc001kqb.3	-	8	1708	c.1091C>T	c.(1090-1092)GCG>GTG	p.A364V	COX15_uc001kqc.3_Missense_Mutation_p.A364V|COX15_uc010qpj.1_Missense_Mutation_p.A185V	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	COX15 homolog isoform 1	364	Helical; (Potential).				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		CTGTGTATACGCCAAAGCCAG	0.368													A	101476115	G	A	101476115	3	1	49	1	0	0	0	0	1	0	0	0	3764	1087	38	1	219	1	COX15	10	101476115	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1798815	101476115	34058632	883	39764											
ABCC2	1244	broad.mit.edu	37	chr10	101591751	101591751	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taggtatatttgtgttcataGcacatttctggagtgccttt	9	6	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:101591751G>T	uc001kqf.2	+	23	3260	c.3121G>T	c.(3121-3123)GCA>TCA	p.A1041S		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	1041	ABC transmembrane type-1 2.|Helical; Name=13; (By similarity).					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGTGTTCATAGCACATTTCTG	0.433													T	101591751	G	T	101591751	3	4	49	1	0	0	0	0	1	0	0	0	53	971	34	5	3211	5	ABCC2	10	101591751	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	115636	101591751	33942996	884	39765											
FAM178A	55719	broad.mit.edu	37	chr10	102676365	102676365	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccacaaaaatcaaacatcAaatatggaggaagtagattg	7	7	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:102676365A>G	uc001krt.3	+	3	765	c.223A>G	c.(223-225)AAA>GAA	p.K75E	FAM178A_uc001krr.1_Missense_Mutation_p.K75E|FAM178A_uc001krs.2_Missense_Mutation_p.K75E|FAM178A_uc001kru.1_Missense_Mutation_p.K11E	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	75											0						ATCAAACATCAAATATGGAGG	0.328													G	102676365	A	G	102676365	3	3	49	1	0	0	0	0	1	0	0	0	5503	131	5	3	233	3	FAM178A	10	102676365	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1084614	102676365	32858382	885	39766											
KAZALD1	81621	broad.mit.edu	37	chr10	102822357	102822357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcccgctaaccatgctgcCgccgccgcggcccgcagctg	11	20	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:102822357C>T	uc001ksr.2	+	2	933	c.8C>T	c.(7-9)CCG>CTG	p.P3L	KAZALD1_uc001kss.3_RNA|KAZALD1_uc001kst.1_Missense_Mutation_p.P3L	NM_030929	NP_112191	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	3					cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding				0				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		ACCAtgctgccgccgccgcgg	0.433													T	102822357	C	T	102822357	3	4	49	1	0	0	0	0	1	0	0	0	7989	652	23	1	10	1	KAZALD1	10	102822357	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	145992	102822357	32712390	886	39767											
CYP17A1	1586	broad.mit.edu	37	chr10	104592406	104592406	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcggctgaaacccacattcTggtcaatctcctcgtagagc	9	13	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:104592406T>C	uc001kwg.2	-	6	1173	c.1001A>G	c.(1000-1002)CAG>CGG	p.Q334R		NM_000102	NP_000093	P05093	CP17A_HUMAN	cytochrome P450, family 17	334					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	ACCCACATTCTGGTCAATCTC	0.557													C	104592406	T	C	104592406	3	2	49	1	0	0	0	0	1	0	0	0	4147	1580	55	3	537	3	CYP17A1	10	104592406	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1770049	104592406	30942341	887	39768											
COL17A1	1308	broad.mit.edu	37	chr10	105795035	105795035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctactatgtaagtaagacGagaggtcctccacgctgatg	10	11	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:105795035G>A	uc001kxr.2	-	50	3774	c.3605C>T	c.(3604-3606)TCG>TTG	p.S1202L	COL17A1_uc001kxq.2_5'Flank	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	1202	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TAAGTAAGACGAGAGGTCCTC	0.612													A	105795035	G	A	105795035	3	1	49	1	0	0	0	0	1	0	0	0	3674	1059	37	1	916	1	COL17A1	10	105795035	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1202629	105795035	29739712	888	39769											
CCDC147	159686	broad.mit.edu	37	chr10	106166475	106166475	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccaatgcatatgagctgaTacagaaaattcacaccctgc	6	13	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:106166475T>C	uc001kyh.2	+	15	2314	c.2180T>C	c.(2179-2181)ATA>ACA	p.I727T		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	727	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TATGAGCTGATACAGAAAATT	0.463													C	106166475	T	C	106166475	3	2	49	1	0	0	0	0	1	0	0	0	2781	1406	49	3	2238	3	CCDC147	10	106166475	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	371440	106166475	29368272	889	39770											
XPNPEP1	7511	broad.mit.edu	37	chr10	111624956	111624956	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatttattaatgctgtttggAgatgggttgcgtctctctga	11	5	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:111624956A>T	uc001kyp.1	-	21	1998	c.1858T>A	c.(1858-1860)TCC>ACC	p.S620T	XPNPEP1_uc009xxt.1_Missense_Mutation_p.S639T|XPNPEP1_uc001kyq.1_Missense_Mutation_p.S549T	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1,	620					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			ovary(3)|pancreas(1)	4		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TGCTGTTTGGAGATGGGTTGC	0.488													T	111624956	A	T	111624956	3	4	49	1	0	0	0	0	1	0	0	0	17439	304	11	5	17	5	XPNPEP1	10	111624956	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	5458481	111624956	23909791	890	39771											
SMC3	9126	broad.mit.edu	37	chr10	112361628	112361628	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttgaaaagtaccagacaCtgagcctcaaacaggttggt	9	9	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:112361628C>T	uc001kze.2	+	24	3004	c.2878C>T	c.(2878-2880)CTG>TTG	p.L960L		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	960	Potential.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GTACCAGACACTGAGCCTCAA	0.328													T	112361628	C	T	112361628	2	4	49	1	0	0	0	0	0	0	0	1	14784	564	20	4		4	SMC3	10	112361628	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	736672	112361628	23173119	891	39772											
PNLIPRP3	119548	broad.mit.edu	37	chr10	118196325	118196325	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaccctggtctccagagaAgataaacactcgtttcctgc	7	12	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:118196325A>C	uc001lcl.3	+	2	253	c.152A>C	c.(151-153)AAG>ACG	p.K51T		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	51					lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)		TCTCCAGAGAAGATAAACACT	0.403													C	118196325	A	C	118196325	3	2	49	1	0	0	0	0	1	0	0	0	12152	72	3	5	158	5	PNLIPRP3	10	118196325	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	5834697	118196325	17338422	892	39773											
EMX2	2018	broad.mit.edu	37	chr10	119303110	119303110	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gccacaccccctattcgcctCgcagcagcgggatccgtcca	9	19	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:119303110C>A	uc001ldh.3	+	1	1155	c.332C>A	c.(331-333)TCG>TAG	p.S111*	EMX2OS_uc001ldf.2_5'Flank|EMX2OS_uc001ldg.2_Intron|EMX2_uc001ldi.3_Nonsense_Mutation_p.S111*	NM_004098	NP_004089	Q04743	EMX2_HUMAN	empty spiracles homeobox 2 isoform 1	111						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		CTATTCGCCTCGCAGCAGCGG	0.697													A	119303110	C	A	119303110	4	1	49	1	0	0	0	0	0	1	0	0	5108	893	31	5	334	5	EMX2	10	119303110	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1106785	119303110	16231637	893	39774											
CPXM2	119587	broad.mit.edu	37	chr10	125516743	125516743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatacctgctccatgaacaCgatcagagattcccggttat	7	11	1	2	rs78179127	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:125516743C>T	uc001lhk.1	-	12	2228	c.1903G>A	c.(1903-1905)GTG>ATG	p.V635M	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	635					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TCCATGAACACGATCAGAGAT	0.537													T	125516743	C	T	125516743	3	4	49	1	0	0	0	0	1	0	0	0	3838	536	19	1	379	1	CPXM2	10	125516743	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	6213633	125516743	10018004	894	39775											
LHPP	64077	broad.mit.edu	37	chr10	126186604	126186604	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtccctctctcttttcccaGtatgcctgtggcatcaaagc	7	14	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:126186604G>T	uc001lhs.1	+	5	552	c.532_splice	c.e5-1	p.Y178_splice	LHPP_uc001lht.1_Splice_Site_p.Y178_splice|LHPP_uc009yai.1_Intron	NM_022126	NP_071409	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic						protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity				0		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		TCTTTTCCCAGTATGCCTGTG	0.537													T	126186604	G	T	126186604	5	4	49	1	0	0	0	0	0	0	1	0	8769	1043	36	5	549	5	LHPP	10	126186604	Splice_Site	SNP	G	TCGA-BR-7707-01A-11D-2053-08	669861	126186604	9348143	895	39776											
MMP21	118856	broad.mit.edu	37	chr10	127462511	127462511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggccagcgccacaatgcGccgctggtcggccacggaca	14	15	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:127462511G>A	uc001liu.2	-	2	586	c.586C>T	c.(586-588)CGC>TGC	p.R196C		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	matrix metalloproteinase 21 preproprotein	196					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GCCACAATGCGCCGCTGGTCG	0.721													A	127462511	G	A	127462511	3	1	49	1	0	0	0	0	1	0	0	0	9660	1087	38	1	1147	1	MMP21	10	127462511	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1275907	127462511	8072236	896	39777											
ADAM12	8038	broad.mit.edu	37	chr10	128076637	128076637	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgacttacctcgggcctcGcagggcgcgagcagagcacc	15	15	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:128076637G>A	uc001ljk.2	-	1	491	c.78C>T	c.(76-78)TGC>TGT	p.C26C	ADAM12_uc010qul.1_Silent_p.C26C|ADAM12_uc001ljm.2_Silent_p.C26C|ADAM12_uc001ljn.2_Silent_p.C26C|ADAM12_uc001ljl.3_Silent_p.C26C	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	26					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTCGGGCCTCGCAGGGCGCGA	0.786													A	128076637	G	A	128076637	2	1	49	1	0	0	0	0	0	0	0	1	236	1079	38	1		1	ADAM12	10	128076637	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	614126	128076637	7458110	897	39778											
DOCK1	1793	broad.mit.edu	37	chr10	129245732	129245732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctctcaaaggcagcgtgGcagattacgggaatttgatg	13	8	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:129245732G>A	uc001ljt.2	+	51	5489	c.5425G>A	c.(5425-5427)GCA>ACA	p.A1809T	DOCK1_uc010qun.1_Missense_Mutation_p.A1830T|DOCK1_uc009yaq.2_Missense_Mutation_p.G808D|DOCK1_uc001ljw.1_5'Flank	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1809	Interaction with NCK2 second and third SH3 domain (minor).				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGGCAGCGTGGCAGATTACGG	0.567													A	129245732	G	A	129245732	3	1	49	1	0	0	0	0	1	0	0	0	4684	1203	42	2	5627	2	DOCK1	10	129245732	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1169095	129245732	6289015	898	39779											
PWWP2B	170394	broad.mit.edu	37	chr10	134218255	134218256	+	Frame_Shift_Ins	INS	-	-	C													atgcagctggggtccagctcINScccccctcctgcccgcgggg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:134218254_134218255T>TC	uc001lll.4	+	1	279_280	c.250_251T>TC	c.(250-252)tccfs	p.S84fs	PWWP2B_uc009ybe.3_Frame_Shift_Ins_p.S84fs	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	84										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GGGGTCCAGCTCCCCCCCTCCT	0.748													C	134218256	-	C	134218255	7	5	49	1	0	1	1	0	0	0	0	0	12846	855	30	0	257	0	PWWP2B	10	134218255	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	4972523	134218255	1316492	899	39780											
PWWP2B	170394	broad.mit.edu	37	chr10	134219544	134219544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttcttgacatcagtctcGgccagaaggaggacggagag	15	8	3	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:134219544G>A	uc001lll.3	+	2	1569	c.1540G>A	c.(1540-1542)GGC>AGC	p.G514S	PWWP2B_uc009ybe.2_Intron	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2 isoform 1	514	PWWP.										0		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CATCAGTCTCGGCCAGAAGGA	0.567													A	134219544	G	A	134219544	3	1	49	1	0	0	0	0	1	0	0	0	12846	1116	39	1	1546	1	PWWP2B	10	134219544	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1289	134219544	1315203	900	39781											
KNDC1	85442	broad.mit.edu	37	chr10	135015215	135015215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagacgtggaggcagtgaCccgactggccaggtccaaag	14	12	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:135015215C>T	uc001llz.1	+	17	3201	c.3200C>T	c.(3199-3201)ACC>ATC	p.T1067I	KNDC1_uc001lma.1_Missense_Mutation_p.T1002I|KNDC1_uc001lmb.1_Missense_Mutation_p.T479I	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1067					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAGGCAGTGACCCGACTGGCC	0.692													T	135015215	C	T	135015215	3	4	49	1	0	0	0	0	1	0	0	0	8426	507	18	4	3266	4	KNDC1	10	135015215	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	795671	135015215	519532	901	39782											
ANO9	338440	broad.mit.edu	37	chr11	418445	418445	+	Frame_Shift_Del	DEL	C	C	-													cattgggggccgagagcctgCccccaccccacccagcctct							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:418444_418444GC>G	uc001lpi.2	-	22	2361	c.2276_2276GC>C	c.(2275-2277)gcafs	p.A759fs	SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Frame_Shift_Del_p.A452fs|ANO9_uc010qvv.1_Frame_Shift_Del_p.A615fs	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	759						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CCGAGAGCCTGCCCCCACCCC	0.627													-	418445	C	-	418445	7	5	49	1	0	1	0	1	0	0	0	0	704	739	26	0	77	0	ANO9	11	418445	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08		418445	134588071	902	39783											
RPLP2	6181	broad.mit.edu	37	chr11	812778	812780	+	In_Frame_Del	DEL	AGA	AGA	-													agcagaggagaagaaagatgAgaagaaggaggagtctgaag							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:812777_812779GAGA>G	uc001lrq.1	+	4	394_396	c.289_291GAGA>G	c.(289-291)gag>G	p.E97del		NM_001004	NP_000995	P05387	RLA2_HUMAN	Homo sapiens ribosomal protein, large, P2 (RPLP2), mRNA.	97					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			lung(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAAGAAAGATGAGAAGAAGGAGG	0.502													-	812780	AGA	-	812778	7	5	49	1	0	1	0	1	0	0	0	0	13606	304	11	0	304	0	RPLP2	11	812778	In_Frame_Del	DEL	AGA	TCGA-BR-7707-01A-11D-2053-08	394333	812778	134193738	903	39784											
MUC6	4588	broad.mit.edu	37	chr11	1026404	1026404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacatgggcactcctcgggGggcacacactgcccgtcggc	13	16	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:1026404G>A	uc001lsw.2	-	20	2520	c.2469C>T	c.(2467-2469)CCC>CCT	p.P823P		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	823					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACTCCTCGGGGGGCACACACT	0.642													A	1026404	G	A	1026404	2	1	49	1	0	0	0	0	0	0	0	1	9980	1219	43	4		4	MUC6	11	1026404	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	213626	1026404	133980112	904	39785											
MUC2	4583	broad.mit.edu	37	chr11	1095795	1095795	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggcctccaacccgtgcgCgtcgaggaccccgacggctg	13	17	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:1095795C>T	uc001lsx.1	+	36	13419	c.13392C>T	c.(13390-13392)CGC>CGT	p.R4464R		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4464						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AACCCGTGCGCGTCGAGGACC	0.687													T	1095795	C	T	1095795	2	4	49	1	0	0	0	0	0	0	0	1	9975	755	27	1		1	MUC2	11	1095795	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	69391	1095795	133910721	905	39786											
MUC5B	727897	broad.mit.edu	37	chr11	1265003	1265003	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgcacctcgaccctgctgcCcagcagccccacatcggccc	8	23	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:1265003C>A	uc009ycr.1	+	48	8933	c.8807C>A	c.(8806-8808)CCC>CAC	p.P2936H	MUC5B_uc001ltb.2_Missense_Mutation_p.P2301H	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2298	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCCTGCTGCCCAGCAGCCCC	0.687													A	1265003	C	A	1265003	3	1	49	1	0	0	0	0	1	0	0	0	9979	623	22	5	7024	5	MUC5B	11	1265003	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	169208	1265003	133741513	906	39787											
MUC5B	727897	broad.mit.edu	37	chr11	1267404	1267404	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccacaatccacccctcctcCactccggagaccacccacac	3	23	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:1267404C>A	uc009ycr.1	+	49	11169	c.11043C>A	c.(11041-11043)TCC>TCA	p.S3681S	MUC5B_uc001ltb.2_Silent_p.S3101S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	3098	7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCCCTCCTCCACTCCGGAGA	0.637													A	1267404	C	A	1267404	2	1	49	1	0	0	0	0	0	0	0	1	9979	581	21	5		5	MUC5B	11	1267404	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2401	1267404	133739112	907	39788											
MUC5B	727897	broad.mit.edu	37	chr11	1275943	1275943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcctgtttgaccaaattcCggtgagcagcggtttcagca	11	10	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:1275943C>T	uc009ycr.1	+	57	16634	c.16508C>T	c.(16507-16509)CCG>CTG	p.P5503L	MUC5B_uc001ltb.2_Missense_Mutation_p.P5169L	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	5166	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACCAAATTCCGGTGAGCAGC	0.622													T	1275943	C	T	1275943	3	4	49	1	0	0	0	0	1	0	0	0	9979	652	23	1	15644	1	MUC5B	11	1275943	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	8539	1275943	133730573	908	39789											
STIM1	6786	broad.mit.edu	37	chr11	4045107	4045107	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacttttcccttgcagttccTgagggaagacctcaattacc	7	12	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:4045107T>C	uc001lyv.2	+	3	843	c.275T>C	c.(274-276)CTG>CCG	p.L92P	STIM1_uc009yef.2_Missense_Mutation_p.L92P	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	92	EF-hand.|Extracellular (Potential).				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			pancreas(1)	1		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TTGCAGTTCCTGAGGGAAGAC	0.507													C	4045107	T	C	4045107	3	2	49	1	0	0	0	0	1	0	0	0	15282	1580	55	3	285	3	STIM1	11	4045107	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	2769164	4045107	130961409	909	39790											
OR52R1	119695	broad.mit.edu	37	chr11	4825255	4825255	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagtccagggccatagccAtgagcaccccagactccaca	9	16	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:4825255A>G	uc010qym.1	-	1	593	c.593T>C	c.(592-594)ATG>ACG	p.M198T		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCATAGCCATGAGCACCCC	0.532													G	4825255	A	G	4825255	3	3	49	1	0	0	0	0	1	0	0	0	11131	217	8	3	594	3	OR52R1	11	4825255	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	780148	4825255	130181261	910	39791											
OR51S1	119692	broad.mit.edu	37	chr11	4870019	4870019	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccattggtgaggagcgctggGtagtggagaggtcggcagat	19	6	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:4870019G>C	uc010qyo.1	-	1	420	c.420C>G	c.(418-420)TAC>TAG	p.Y140*		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	140	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGAGCGCTGGGTAGTGGAGAG	0.522													C	4870019	G	C	4870019	4	2	49	1	0	0	0	0	0	1	0	0	11105	1256	44	5	554	5	OR51S1	11	4870019	Nonsense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	44764	4870019	130136497	911	39792											
OR51I1	390063	broad.mit.edu	37	chr11	5462646	5462646	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagatcatgtagaggatgcaGaaaatcagggcaacccaggt	13	7	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:5462646G>T	uc010qze.1	-	1	99	c.99C>A	c.(97-99)TTC>TTA	p.F33L	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGGATGCAGAAAATCAGGG	0.527													T	5462646	G	T	5462646	3	4	49	1	0	0	0	0	1	0	0	0	11100	933	33	5	849	5	OR51I1	11	5462646	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	592627	5462646	129543870	912	39793											
NLRP14	338323	broad.mit.edu	37	chr11	7065123	7065123	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgtatcttctttctgcctTaagcactgccggtgtttgcg	9	11	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:7065123T>C	uc001mfb.1	+	4	2189	c.1866T>C	c.(1864-1866)CTT>CTC	p.L622L		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	622					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTTTCTGCCTTAAGCACTGCC	0.398													C	7065123	T	C	7065123	2	2	49	1	0	0	0	0	0	0	0	1	10476	1741	61	3		3	NLRP14	11	7065123	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1602477	7065123	127941393	913	39794											
PPFIBP2	8495	broad.mit.edu	37	chr11	7586879	7586879	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcccggtgctccatctcAtcgaggacttgaggctggcc	11	15	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:7586879A>G	uc001mfj.3	+	3	548	c.160A>G	c.(160-162)ATC>GTC	p.I54V		NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2	54					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			ovary(2)|breast(2)	4				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCTCCATCTCATCGAGGACTT	0.572													G	7586879	A	G	7586879	3	3	49	1	0	0	0	0	1	0	0	0	12314	217	8	3	166	3	PPFIBP2	11	7586879	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	521756	7586879	127419637	914	39795											
EIF4G2	1982	broad.mit.edu	37	chr11	10824639	10824639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attgtcaagaaaagccttgcGaggaacccaatggtgttctc	10	9	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:10824639G>A	uc001mjc.2	-	11	1351	c.934C>T	c.(934-936)CGC>TGC	p.R312C	EIF4G2_uc001mjb.2_Missense_Mutation_p.R106C|EIF4G2_uc009ygf.2_Missense_Mutation_p.R106C|EIF4G2_uc001mjd.2_Missense_Mutation_p.R312C|EIF4G2_uc001mjf.1_Missense_Mutation_p.R106C|SNORD97_uc009yge.2_5'Flank	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	312					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AAAGCCTTGCGAGGAACCCAA	0.338													A	10824639	G	A	10824639	3	1	49	1	0	0	0	0	1	0	0	0	5037	1058	37	1	1837	1	EIF4G2	11	10824639	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	3237760	10824639	124181877	915	39796											
SPON1	10418	broad.mit.edu	37	chr11	14063134	14063134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcactgaaagcactccaCggaggaggacccggatccag	12	13	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:14063134C>T	uc001mle.2	+	3	950	c.412C>T	c.(412-414)CGG>TGG	p.R138W		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	138	Reelin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)		AAGCACTCCACGGAGGAGGAC	0.468													T	14063134	C	T	14063134	3	4	49	1	0	0	0	0	1	0	0	0	15081	527	19	1	422	1	SPON1	11	14063134	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3238495	14063134	120943382	916	39797											
PLEKHA7	144100	broad.mit.edu	37	chr11	16822525	16822526	+	Frame_Shift_Ins	INS	-	-	A													caggtatcaggtcacctggaINSaaaaaaaggctcttctgtgt							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:16822524_16822525G>GA	uc010rcu.1	-	16	2420_2421	c.2405_2406C>TC	c.(2404-2406)ttcfs	p.F802fs	PLEKHA7_uc001mmo.3_Frame_Shift_Ins_p.F802fs|PLEKHA7_uc010rcv.2_Frame_Shift_Ins_p.F376fs|PLEKHA7_uc001mmn.3_Frame_Shift_Ins_p.F510fs	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	802					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AGGTCACCTGGAAAAAAAAGGC	0.446													A	16822526	-	A	16822525	7	5	49	1	0	1	1	0	0	0	0	0	12061	246	9	0	988	0	PLEKHA7	11	16822525	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	2759391	16822525	118183991	917	39798											
MRGPRX4	117196	broad.mit.edu	37	chr11	18195721	18195721	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaggtggataaaggtgaaggGcagcttcctgaggaaagcct	16	6	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:18195721G>C	uc001mnv.1	+	1	1338	c.918G>C	c.(916-918)GGG>GGC	p.G306G		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	306	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						AAGGTGAAGGGCAGCTTCCTG	0.567													C	18195721	G	C	18195721	2	2	49	1	0	0	0	0	0	0	0	1	9769	1190	42	5		5	MRGPRX4	11	18195721	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1373196	18195721	116810795	918	39799											
IGSF22	283284	broad.mit.edu	37	chr11	18743459	18743459	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggcagcaacacacccTcgggcgcggtgaccggttga	13	15	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:18743459T>C	uc009yht.2	-	3	429	c.239A>G	c.(238-240)GAG>GGG	p.E80G	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	80	Ig-like 1.									ovary(4)|large_intestine(2)|kidney(1)	7						CAACACACCCTCGGGCGCGGT	0.607											OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	18743459	T	C	18743459	3	2	49	1	0	0	0	0	1	0	0	0	7600	1551	54	3	3825	3	IGSF22	11	18743459	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	547738	18743459	116263057	919	39800											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077849	19077849	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgaaaaggatcaggaagAccgggatcagggtctccttg	13	8	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:19077849A>G	uc001mph.2	-	2	189	c.101T>C	c.(100-102)GTC>GCC	p.V34A		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	34	Helical; Name=1; (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						GATCAGGAAGACCGGGATCAG	0.557													G	19077849	A	G	19077849	3	3	49	1	0	0	0	0	1	0	0	0	9767	275	10	3	895	3	MRGPRX2	11	19077849	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	334390	19077849	115928667	920	39801											
SLC17A6	57084	broad.mit.edu	37	chr11	22364897	22364897	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggctacatcgcgtctcgGctggcagccaacaggtaatg	14	11	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:22364897G>A	uc001mqk.2	+	3	857	c.444G>A	c.(442-444)CGG>CGA	p.R148R		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	148	Cytoplasmic (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						TCGCGTCTCGGCTGGCAGCCA	0.597													A	22364897	G	A	22364897	2	1	49	1	0	0	0	0	0	0	0	1	14421	1190	42	2		2	SLC17A6	11	22364897	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	3287048	22364897	112641619	921	39802											
PAX6	5080	broad.mit.edu	37	chr11	31812317	31812318	+	Frame_Shift_Ins	INS	-	-	G													catgtgtgtctgcatatgtgINSggggggtgtaggtatcataa							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:31812316_31812317T>TG	uc009yjr.3	-	11	1593_1594	c.1124_1125A>CA	c.(1123-1125)ccafs	p.P375fs	PAX6_uc001mtd.4_Frame_Shift_Ins_p.P375fs|PAX6_uc001mte.4_Frame_Shift_Ins_p.P375fs|PAX6_uc001mtg.4_Frame_Shift_Ins_p.P389fs|PAX6_uc001mtf.4_Frame_Shift_Ins_p.P375fs|PAX6_uc001mth.4_Frame_Shift_Ins_p.P375fs|PAX6_uc021qfl.1_Frame_Shift_Ins_p.P389fs|PAX6_uc021qfm.1_Frame_Shift_Ins_p.P389fs	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				G	31812318	-	G	31812317	7	5	49	1	0	1	1	0	0	0	0	0	11483	1348	47	0	152	0	PAX6	11	31812317	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	9447420	31812317	103194199	922	39803											
PAX6	5080	broad.mit.edu	37	chr11	31823241	31823241	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggagtcgctactctcggTttactaccaccgattgccct	8	14	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:31823241T>C	uc001mtd.3	-	5	1115	c.225A>G	c.(223-225)AAA>AAG	p.K75K	PAX6_uc001mte.3_Silent_p.K75K|PAX6_uc001mtg.3_Silent_p.K89K|PAX6_uc001mtf.3_Silent_p.K75K|PAX6_uc001mth.3_Silent_p.K75K|PAX6_uc009yjr.2_Silent_p.K75K	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	75	Paired.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					CTACTCTCGGTTTACTACCAC	0.512									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				C	31823241	T	C	31823241	2	2	49	1	0	0	0	0	0	0	0	1	11483	1722	60	3		3	PAX6	11	31823241	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	10924	31823241	103183275	923	39804											
CSTF3	1479	broad.mit.edu	37	chr11	33124659	33124659	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggaattccatacctttgcTacacgtctagcattcatata	5	10	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:33124659T>C	uc001muh.2	-	9	823	c.657A>G	c.(655-657)GTA>GTG	p.V219V	TCP11L1_uc001muf.1_Intron	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	cleavage stimulation factor subunit 3 isoform 1	219					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding				0						ATACCTTTGCTACACGTCTAG	0.299													C	33124659	T	C	33124659	2	2	49	1	0	0	0	0	0	0	0	1	3986	1509	53	3		3	CSTF3	11	33124659	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1301418	33124659	101881857	924	39805											
HIPK3	10114	broad.mit.edu	37	chr11	33308323	33308323	+	Frame_Shift_Del	DEL	C	C	-													agattgcatttcctagaaggCccccagcgatgtggattgaa							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:33308322_33308322GC>G	uc001mul.1	+	1	632	c.362_362GC>G	c.(361-363)ggcfs	p.G121fs	HIPK3_uc001mum.1_Frame_Shift_Del_p.G121fs|HIPK3_uc009yjv.1_Frame_Shift_Del_p.G121fs	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	121					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTCCTAGAAGGCCCCCAGCGA	0.512													-	33308323	C	-	33308323	7	5	49	1	0	1	0	1	0	0	0	0	7118	726	26	0	365	0	HIPK3	11	33308323	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	183664	33308323	101698193	925	39806											
RAG1	5896	broad.mit.edu	37	chr11	36595836	36595836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagtcatgggcagctatTgtccctcttgccgatatcca	8	12	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:36595836T>C	uc001mwu.3	+	2	1106	c.982T>C	c.(982-984)TGT>CGT	p.C328R	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	328	RING-type.	Zinc 3 (By similarity).	C -> Y (in OS).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				GGGCAGCTATTGTCCCTCTTG	0.498									Familial_Hemophagocytic_Lymphohistiocytosis				C	36595836	T	C	36595836	3	2	49	1	0	0	0	0	1	0	0	0	13003	1812	63	3	984	3	RAG1	11	36595836	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	3287513	36595836	98410680	926	39807											
PEX16	9409	broad.mit.edu	37	chr11	45936234	45936234	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgccagggctgtggtcaccAtctagcagggatagacagaa	13	9	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:45936234A>G	uc001nbu.2	-	6	774	c.462T>C	c.(460-462)GAT>GAC	p.D154D	PEX16_uc001nbt.2_Silent_p.D154D	NM_004813	NP_004804	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16 isoform 1	154	Cytoplasmic (Potential).				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			ovary(2)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.223)		TGTGGTCACCATCTAGCAGGG	0.572													G	45936234	A	G	45936234	2	3	49	1	0	0	0	0	0	0	0	1	11743	231	8	3		3	PEX16	11	45936234	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	9340398	45936234	89070282	927	39808											
CHRM4	1132	broad.mit.edu	37	chr11	46407805	46407805	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggtcgcagaccacggcGcccaggggccagtagccctt	13	16	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:46407805G>A	uc001nct.1	-	1	303	c.303C>T	c.(301-303)GGC>GGT	p.G101G		NM_000741	NP_000732	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	101	Extracellular (By similarity).				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity				0				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	AGACCACGGCGCCCAGGGGCC	0.572													A	46407805	G	A	46407805	2	1	49	1	0	0	0	0	0	0	0	1	3379	1074	38	1		1	CHRM4	11	46407805	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	471571	46407805	88598711	928	39809											
ARHGAP1	392	broad.mit.edu	37	chr11	46701278	46701278	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaaggtcttgaggatgActgctggcaggtgcagctca	17	7	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:46701278A>T	uc001ndd.2	-	11	1016	c.947T>A	c.(946-948)GTC>GAC	p.V316D		NM_004308	NP_004299	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	316	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			skin(1)	1		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		CTTGAGGATGACTGCTGGCAG	0.612													T	46701278	A	T	46701278	3	4	49	1	0	0	0	0	1	0	0	0	861	275	10	5	384	5	ARHGAP1	11	46701278	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	293473	46701278	88305238	929	39810											
OR4A5	81318	broad.mit.edu	37	chr11	51412264	51412264	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggctggcaataatatccacCacaatgagcaggttccccac	9	13	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:51412264C>A	uc001nhi.1	-	1	132	c.132G>T	c.(130-132)GTG>GTT	p.V44V		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	44	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				TAATATCCACCACAATGAGCA	0.453													A	51412264	C	A	51412264	2	1	49	1	0	0	0	0	0	0	0	1	11043	581	21	5		5	OR4A5	11	51412264	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	4710986	51412264	83594252	930	39811											
OR4C15	81309	broad.mit.edu	37	chr11	55322033	55322033	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatagtatttgttgtattttTgtttgtctacattgcaactg	7	4	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:55322033T>C	uc010rig.1	+	1	251	c.251T>C	c.(250-252)TTG>TCG	p.L84S		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GTTGTATTTTTGTTTGTCTAC	0.418										HNSCC(20;0.049)			C	55322033	T	C	55322033	3	2	49	1	0	0	0	0	1	0	0	0	11048	1821	63	3	253	3	OR4C15	11	55322033	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	3909769	55322033	79684483	931	39812											
OR5J2	282775	broad.mit.edu	37	chr11	55944831	55944831	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgcctctcacctgacTgctgtgaccatattctatgg	8	13	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:55944831T>C	uc010rjb.1	+	1	738	c.738T>C	c.(736-738)ACT>ACC	p.T246T		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	246	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					CTCACCTGACTGCTGTGACCA	0.448													C	55944831	T	C	55944831	2	2	49	1	0	0	0	0	0	0	0	1	11165	1567	55	3		3	OR5J2	11	55944831	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	622798	55944831	79061685	932	39813			1	11		3	3	105	N	T_G_A	1.631939e-05
OR5J2	282775	broad.mit.edu	37	chr11	55944903	55944903	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccagtattttgtggaacaAgagaaagtggtttctatgtt	10	5	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:55944903A>G	uc010rjb.1	+	1	810	c.810A>G	c.(808-810)CAA>CAG	p.Q270Q		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	270	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					TTGTGGAACAAGAGAAAGTGG	0.438													G	55944903	A	G	55944903	2	3	49	1	0	0	0	0	0	0	0	1	11165	69	3	3		3	OR5J2	11	55944903	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	72	55944903	79061613	933	39814			1	11		3	3	105	N	T_G_A	1.631939e-05
OR5J2	282775	broad.mit.edu	37	chr11	55944935	55944935	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctatgttctatacgctagGgattcccatgttaaacctgt	7	9	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:55944935G>T	uc010rjb.1	+	1	842	c.842G>T	c.(841-843)GGG>GTG	p.G281V		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	281	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					TATACGCTAGGGATTCCCATG	0.388													T	55944935	G	T	55944935	3	4	49	1	0	0	0	0	1	0	0	0	11165	1232	43	5	844	5	OR5J2	11	55944935	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	32	55944935	79061581	934	39815			1	11		3	3	105	N	T_G_A	1.631939e-05
OR5AR1	219493	broad.mit.edu	37	chr11	56431414	56431414	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccaggatgctggctgacTtcctaacaaatcacaaagtt	7	13	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:56431414T>C	uc010rjm.1	+	1	253	c.253T>C	c.(253-255)TTC>CTC	p.F85L		NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR,	85	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GCTGGCTGACTTCCTAACAAA	0.488													C	56431414	T	C	56431414	3	2	49	1	0	0	0	0	1	0	0	0	11145	1609	56	3	255	3	OR5AR1	11	56431414	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	486479	56431414	78575102	935	39816											
TMX2	51075	broad.mit.edu	37	chr11	57506647	57506647	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaagcaactccctacccTgatcctgttccaaggtggca	7	16	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:57506647T>C	uc001nlc.1	+	7	708	c.659T>C	c.(658-660)CTG>CCG	p.L220P	CTNND1_uc001nlf.1_Intron|TMX2_uc001nld.1_Missense_Mutation_p.L126P|TMX2_uc001nle.1_Missense_Mutation_p.L182P|C11orf31_uc010rjx.1_5'Flank	NM_015959	NP_057043	Q9Y320	TMX2_HUMAN	thioredoxin domain containing 14 isoform 1	220	Cytoplasmic (Potential).|Thioredoxin.				cell redox homeostasis	integral to membrane					0						CTCCCTACCCTGATCCTGTTC	0.512													C	57506647	T	C	57506647	3	2	49	1	0	0	0	0	1	0	0	0	16264	1580	55	3	685	3	TMX2	11	57506647	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1075233	57506647	77499869	936	39817											
MS4A12	54860	broad.mit.edu	37	chr11	60269470	60269471	+	Frame_Shift_Del	DEL	CT	CT	-													ccacagtttattatctctggCtctctctctgtgtcagcatc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:60269469_60269470GCT>G	uc001npr.3	+	3	485_486	c.428_429GCT>G	c.(427-429)ggcfs	p.G143fs	MS4A12_uc021qkb.1_Frame_Shift_Del_p.G97fs	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 12 (MS4A12), transcript variant 1, mRNA.	143						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						ATTATCTCTGGCTCTCTCTCTG	0.376													-	60269471	CT	-	60269470	7	5	49	1	0	1	0	1	0	0	0	0	9856	784	28	0	439	0	MS4A12	11	60269470	Frame_Shift_Del	DEL	CT	TCGA-BR-7707-01A-11D-2053-08	2762823	60269470	74737046	937	39818											
AHNAK	79026	broad.mit.edu	37	chr11	62295967	62295967	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggcatcttaaacttgggCcctttcaactttgcatcagg	8	11	4	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:62295967C>T	uc001ntl.2	-	5	6222	c.5922G>A	c.(5920-5922)GGG>GGA	p.G1974G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1974					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TAAACTTGGGCCCTTTCAACT	0.507													T	62295967	C	T	62295967	2	4	49	1	0	0	0	0	0	0	0	1	414	726	26	2		2	AHNAK	11	62295967	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2026497	62295967	72710549	938	39819											
TAF6L	10629	broad.mit.edu	37	chr11	62543364	62543364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggtggcggcgctgctcGcagaggacgtgtgctatcgt	17	9	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:62543364G>A	uc001nvc.2	+	2	210	c.109G>A	c.(109-111)GCA>ACA	p.A37T	TAF6L_uc010rmg.1_Missense_Mutation_p.A37T|TAF6L_uc009yof.2_Missense_Mutation_p.A37T	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II	37					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			ovary(3)	3						GGCGCTGCTCGCAGAGGACGT	0.607													A	62543364	G	A	62543364	3	1	49	1	0	0	0	0	1	0	0	0	15528	1087	38	1	111	1	TAF6L	11	62543364	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	247397	62543364	72463152	939	39820											
TAF6L	10629	broad.mit.edu	37	chr11	62554095	62554095	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacgacctgccatgggacaGccttctctttcaagagtcgt	11	12	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:62554095G>T	uc001nvc.2	+	11	1297	c.1196G>T	c.(1195-1197)AGC>ATC	p.S399I	TMEM179B_uc001nvd.3_5'Flank	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II	399					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			ovary(3)	3						CCATGGGACAGCCTTCTCTTT	0.697											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	62554095	G	T	62554095	3	4	49	1	0	0	0	0	1	0	0	0	15528	971	34	5	1234	5	TAF6L	11	62554095	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	10731	62554095	72452421	940	39821											
NXF1	10482	broad.mit.edu	37	chr11	62569260	62569260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcattcagtatagtgtggGgtggagcagaagagttgatg	16	3	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:62569260G>A	uc001nvf.1	-	6	726	c.590C>T	c.(589-591)CCC>CTC	p.P197L	NXF1_uc001nvg.1_Missense_Mutation_p.P197L|NXF1_uc009yog.1_Missense_Mutation_p.P240L|NXF1_uc010rmh.1_Missense_Mutation_p.P60L	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	197	Interaction with THOC4.|RRM.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3						TATAGTGTGGGGTGGAGCAGA	0.468													A	62569260	G	A	62569260	3	1	49	1	0	0	0	0	1	0	0	0	10782	1232	43	4	1388	4	NXF1	11	62569260	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	15165	62569260	72437256	941	39822											
SLC22A25	387601	broad.mit.edu	37	chr11	62984953	62984953	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgagttatccactctacAactgaaagaaaacacaaaca	6	9	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:62984953A>G	uc001nwr.1	-	4	663	c.663T>C	c.(661-663)ATT>ATC	p.I221I	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Silent_p.I221I	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	putative UST1-like organic anion transporter	221	Helical; Name=4; (Potential).				transmembrane transport	integral to membrane				ovary(3)|skin(1)	4						TCCACTCTACAACTGAAAGAA	0.398													G	62984953	A	G	62984953	2	3	49	1	0	0	0	0	0	0	0	1	14454	144	5	3		3	SLC22A25	11	62984953	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	415693	62984953	72021563	942	39823											
GPR137	56834	broad.mit.edu	37	chr11	64054186	64054186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctatcagacggtgttcctgGccctctgtctgctctgggcc	12	14	4	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:64054186G>A	uc001nzg.1	+	2	498	c.190G>A	c.(190-192)GCC>ACC	p.A64T	BAD_uc001nzd.2_5'Flank|BAD_uc001nzc.2_5'Flank|GPR137_uc009ypj.1_Missense_Mutation_p.A70T|BAD_uc009ypk.2_5'Flank|GPR137_uc010rni.1_Missense_Mutation_p.A122T|GPR137_uc001nze.1_Missense_Mutation_p.A64T|GPR137_uc001nzf.2_Missense_Mutation_p.A64T|GPR137_uc001nzh.1_Missense_Mutation_p.A64T|GPR137_uc001nzi.2_Missense_Mutation_p.A64T|GPR137_uc010rnj.1_Missense_Mutation_p.A64T	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	64	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1						GGTGTTCCTGGCCCTCTGTCT	0.612													A	64054186	G	A	64054186	3	1	49	1	0	0	0	0	1	0	0	0	6645	1203	42	2	374	2	GPR137	11	64054186	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1069233	64054186	70952330	943	39824											
PYGM	5837	broad.mit.edu	37	chr11	64519099	64519100	+	Frame_Shift_Ins	INS	-	-	A													tcatcacagtccgaggcacaINSaaaaacttattgggctccct							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:64519098_64519099C>CA	uc001oax.4	-	14	2614_2615	c.1797_1798G>TG	c.(1795-1800)tttgtgfs	p.F599fs	PYGM_uc001oay.4_Frame_Shift_Ins_p.F511fs	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	599					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GTCCGAGGCACAAAAAACTTAT	0.564													A	64519100	-	A	64519099	7	5	49	1	0	1	1	0	0	0	0	0	12862	127	5	0	755	0	PYGM	11	64519099	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	464913	64519099	70487417	944	39825											
MRPL49	740	broad.mit.edu	37	chr11	64893062	64893062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcagatgactgtgatccGgaaagtggaaggggacatct	15	8	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:64893062G>A	uc001oda.1	+	3	423	c.332G>A	c.(331-333)CGG>CAG	p.R111Q	MRPL49_uc001ocz.1_RNA	NM_004927	NP_004918	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49	111					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0						ACTGTGATCCGGAAAGTGGAA	0.572													A	64893062	G	A	64893062	3	1	49	1	0	0	0	0	1	0	0	0	9813	1116	39	1	342	1	MRPL49	11	64893062	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	373963	64893062	70113454	945	39826											
CAPN1	823	broad.mit.edu	37	chr11	64972290	64972290	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtcgccgcgagcgccgcttCggccgcgacatggagactat	14	15	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:64972290C>T	uc009yqd.1	+	11	1413	c.1302C>T	c.(1300-1302)TTC>TTT	p.F434F	CAPN1_uc001odf.1_Silent_p.F434F|CAPN1_uc001odg.1_Silent_p.F434F|CAPN1_uc010roa.1_Silent_p.F175F	NM_005186	NP_005177	P07384	CAN1_HUMAN	calpain 1, large subunit	434	Domain III.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		AGCGCCGCTTCGGCCGCGACA	0.657											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	64972290	C	T	64972290	2	4	49	1	0	0	0	0	0	0	0	1	2622	883	31	1		1	CAPN1	11	64972290	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	79228	64972290	70034226	946	39827											
MAP3K11	4296	broad.mit.edu	37	chr11	65367065	65367065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggggactccccgcgctcgCgtcctgggcctcccggcggc	15	19	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:65367065C>T	uc001oew.2	-	9	2499	c.2006G>A	c.(2005-2007)CGC>CAC	p.R669H	MAP3K11_uc001oev.2_Missense_Mutation_p.R85H|MAP3K11_uc010rol.1_Missense_Mutation_p.R412H|MAP3K11_uc001oex.1_Missense_Mutation_p.R176H	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	669	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						CCCGCGCTCGCGTCCTGGGCC	0.761													T	65367065	C	T	65367065	3	4	49	1	0	0	0	0	1	0	0	0	9245	768	27	1	545	1	MAP3K11	11	65367065	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	394775	65367065	69639451	947	39828											
DKFZp761E198	91056	broad.mit.edu	37	chr11	65545802	65545802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcaggagcagagggcggGcagggcggccaggacacagg	22	9	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:65545802G>A	uc001ofo.3	-	1	2021	c.1991C>T	c.(1990-1992)GCC>GTC	p.A664V		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	hypothetical protein LOC91056	664							protein binding				0				READ - Rectum adenocarcinoma(159;0.167)		CAGAGGGCGGGCAGGGCGGCC	0.662													A	65545802	G	A	65545802	3	1	49	1	0	0	0	0	1	0	0	0	4543	1203	42	2	478	2	DKFZp761E198	11	65545802	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	178737	65545802	69460714	948	39829											
DKFZp761E198	91056	broad.mit.edu	37	chr11	65546165	65546165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtcctccagctgcctgGccagcacctgcagcaagtcg	12	16	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:65546165G>A	uc001ofo.3	-	1	1658	c.1628C>T	c.(1627-1629)GCC>GTC	p.A543V		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	hypothetical protein LOC91056	543							protein binding				0				READ - Rectum adenocarcinoma(159;0.167)		CAGCTGCCTGGCCAGCACCTG	0.706													A	65546165	G	A	65546165	3	1	49	1	0	0	0	0	1	0	0	0	4543	1203	42	2	841	2	DKFZp761E198	11	65546165	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	363	65546165	69460351	949	39830											
CTSW	1521	broad.mit.edu	37	chr11	65650135	65650135	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggtggcttcgtctgggaCgcgttcataactgtcctcaa	11	12	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:65650135C>T	uc001ogc.1	+	6	636	c.594C>T	c.(592-594)GAC>GAT	p.D198D	CTSW_uc001ogb.1_Silent_p.D198D	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	198					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)		TCGTCTGGGACGCGTTCATAA	0.632													T	65650135	C	T	65650135	2	4	49	1	0	0	0	0	0	0	0	1	4042	535	19	1		1	CTSW	11	65650135	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	103970	65650135	69356381	950	39831											
KLC2	64837	broad.mit.edu	37	chr11	66033912	66033912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttccctcaggatgaagcGggccagttccctcaacttcc	8	15	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:66033912G>A	uc010rov.1	+	15	1979	c.1736G>A	c.(1735-1737)CGG>CAG	p.R579Q	KLC2_uc010row.1_Missense_Mutation_p.R579Q|KLC2_uc009yra.2_Intron|KLC2_uc001ohb.2_Missense_Mutation_p.R579Q|KLC2_uc010rox.1_Missense_Mutation_p.R502Q|KLC2_uc001ohc.2_Missense_Mutation_p.R579Q|KLC2_uc001ohd.2_Missense_Mutation_p.R502Q|KLC2_uc001ohe.1_Missense_Mutation_p.R440Q|RAB1B_uc001ohf.2_5'Flank	NM_001134775	NP_001128247	Q9H0B6	KLC2_HUMAN	kinesin light chain 2 isoform 1	579					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0						AGGATGAAGCGGGCCAGTTCC	0.642													A	66033912	G	A	66033912	3	1	49	1	0	0	0	0	1	0	0	0	8334	1116	39	1	1790	1	KLC2	11	66033912	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	383777	66033912	68972604	951	39832											
SLC29A2	3177	broad.mit.edu	37	chr11	66130984	66130984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaagaaggtcatgagggCgccggccacctccctctcgt	13	14	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:66130984C>T	uc001oht.2	-	12	1523	c.1294G>A	c.(1294-1296)GCC>ACC	p.A432T	SLC29A2_uc001ohs.2_Missense_Mutation_p.A312T|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.A312T|SLC29A2_uc001ohu.2_Missense_Mutation_p.A432T|SLC29A2_uc001ohv.2_3'UTR	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	432	Helical; (Potential).				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1						GTCATGAGGGCGCCGGCCACC	0.607													T	66130984	C	T	66130984	3	4	49	1	0	0	0	0	1	0	0	0	14535	768	27	1	80	1	SLC29A2	11	66130984	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	97072	66130984	68875532	952	39833											
C11orf80	79703	broad.mit.edu	37	chr11	66610523	66610523	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcgccgggcagggcgagcCtcggaagccgcctggaggta	19	12	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:66610523C>A	uc001ojf.2	+	16	1958	c.1951C>A	c.(1951-1953)CTC>ATC	p.L651I	C11orf80_uc001ojg.2_Missense_Mutation_p.L418I|C11orf80_uc001ojh.2_Missense_Mutation_p.L419I|C11orf80_uc001oji.2_Missense_Mutation_p.L419I|C11orf80_uc010rpl.1_Missense_Mutation_p.L285I|C11orf80_uc001ojj.2_Missense_Mutation_p.L249I|RCE1_uc001ojk.1_5'Flank|RCE1_uc001ojl.1_5'Flank	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	hypothetical protein LOC79703	496											0						CAGGGCGAGCCTCGGAAGCCG	0.766													A	66610523	C	A	66610523	3	1	49	1	0	0	0	0	1	0	0	0	1664	681	24	5	2013	5	C11orf80	11	66610523	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	479539	66610523	68395993	953	39834											
ADRBK1	156	broad.mit.edu	37	chr11	67048952	67048952	+	Frame_Shift_Del	DEL	A	A	-													acgccatgaagtgcctggacAaaaagcgcatcaagatgaag							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:67048951_67048951CA>C	uc009yrn.1	+	8	935	c.669_669CA>C	c.(667-669)gacfs	p.D223fs		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	223	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGTGCCTGGACAAAAAGCGCA	0.647													-	67048952	A	-	67048952	7	5	49	1	0	1	0	1	0	0	0	0	343	131	5	0	704	0	ADRBK1	11	67048952	Frame_Shift_Del	DEL	A	TCGA-BR-7707-01A-11D-2053-08	438429	67048952	67957564	954	39835											
NDUFV1	4723	broad.mit.edu	37	chr11	67377024	67377024	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagctgctggaaggctgccTggtggggggccgggccatgg	20	10	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:67377024T>G	uc001omj.2	+	4	581	c.428T>G	c.(427-429)CTG>CGG	p.L143R	NDUFV1_uc010rpv.1_Missense_Mutation_p.L42R|NDUFV1_uc001oml.2_Missense_Mutation_p.L136R|NDUFV1_uc001omk.3_Missense_Mutation_p.L134R|NDUFV1_uc009yrz.1_Missense_Mutation_p.L42R|NDUFV1_uc010rpw.1_5'Flank	NM_007103	NP_009034	P49821	NDUV1_HUMAN	NADH dehydrogenase ubiquinone flavoprotein 1	143					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			skin(1)	1					NADH(DB00157)	GAAGGCTGCCTGGTGGGGGGC	0.617													G	67377024	T	G	67377024	3	3	49	1	0	0	0	0	1	0	0	0	10299	1580	55	5	442	5	NDUFV1	11	67377024	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	328072	67377024	67629492	955	39836											
SUV420H1	51111	broad.mit.edu	37	chr11	67941281	67941281	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatagttaccactcttttgTtgcaactattttggctccat	6	9	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:67941281T>C	uc001onm.1	-	6	899	c.643A>G	c.(643-645)ACA>GCA	p.T215A	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Missense_Mutation_p.T43A|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Missense_Mutation_p.T215A|SUV420H1_uc001onp.2_Missense_Mutation_p.T215A|SUV420H1_uc010rqa.1_Missense_Mutation_p.T192A|SUV420H1_uc001onq.2_Missense_Mutation_p.T215A	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	215	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						CACTCTTTTGTTGCAACTATT	0.303													C	67941281	T	C	67941281	3	2	49	1	0	0	0	0	1	0	0	0	15411	1725	60	3	2046	3	SUV420H1	11	67941281	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	564257	67941281	67065235	956	39837											
CPT1A	1374	broad.mit.edu	37	chr11	68530165	68530165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggagcgcacggtctccGtcctcccctctcggaagagc	12	16	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:68530165G>A	uc001oog.3	-	15	1975	c.1805C>T	c.(1804-1806)ACG>ATG	p.T602M	CPT1A_uc001oof.3_Missense_Mutation_p.T602M|CPT1A_uc009ysj.2_Intron	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	602	Cytoplasmic (Potential).	Carnitine (By similarity).			carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CACGGTCTCCGTCCTCCCCTC	0.617													A	68530165	G	A	68530165	3	1	49	1	0	0	0	0	1	0	0	0	3831	1145	40	1	576	1	CPT1A	11	68530165	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	588884	68530165	66476351	957	39838											
CTTN	2017	broad.mit.edu	37	chr11	70261793	70261793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaggctttgaataccagGggaagactgagaagcatgcc	13	8	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:70261793G>A	uc001opv.3	+	7	633	c.427G>A	c.(427-429)GGG>AGG	p.G143R	CTTN_uc001opu.2_Missense_Mutation_p.G143R|CTTN_uc001opw.3_Missense_Mutation_p.G143R	NM_005231	NP_005222	Q14247	SRC8_HUMAN	cortactin isoform a	143	Cortactin 2.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGAATACCAGGGGAAGACTGA	0.512													A	70261793	G	A	70261793	3	1	49	1	0	0	0	0	1	0	0	0	4044	1232	43	4	445	4	CTTN	11	70261793	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1731628	70261793	64744723	958	39839											
NADSYN1	55191	broad.mit.edu	37	chr11	71192429	71192430	+	Frame_Shift_Ins	INS	-	-	T													ctgcctgctggctctgggatINStttttaagacgaagtcaaca					rs76254912		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:71192428_71192429A>AT	uc001oqn.3	+	11	1151_1152	c.1025_1026A>AT	c.(1024-1026)gatfs	p.D342fs	NADSYN1_uc001oqo.3_Frame_Shift_Ins_p.D82fs|NADSYN1_uc001oqp.3_5'UTR	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.	342	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ synthase (glutamine-hydrolyzing) activity|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGGCTCTGGGATTTTTTAAGAC	0.559													T	71192430	-	T	71192429	7	5	49	1	0	1	1	0	0	0	0	0	10138	1490	52	0	1072	0	NADSYN1	11	71192429	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	930636	71192429	63814087	959	39840											
INPPL1	3636	broad.mit.edu	37	chr11	71939260	71939260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcatgtgcacacgtatcGcattctgcctgatggagaag	12	9	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:71939260G>A	uc001osf.2	+	2	356	c.209G>A	c.(208-210)CGC>CAC	p.R70H	INPPL1_uc001osg.2_5'UTR	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	70	SH2.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						CACACGTATCGCATTCTGCCT	0.587													A	71939260	G	A	71939260	3	1	49	1	0	0	0	0	1	0	0	0	7761	1087	38	1	215	1	INPPL1	11	71939260	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	746831	71939260	63067256	960	39841											
ARHGEF17	9828	broad.mit.edu	37	chr11	73071483	73071483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggagctgtgcgccactcGgcccgagggcaccgactcct	14	16	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:73071483G>A	uc001otu.2	+	11	4346	c.4325G>A	c.(4324-4326)CGG>CAG	p.R1442Q		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1442					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						TGCGCCACTCGGCCCGAGGGC	0.622													A	73071483	G	A	73071483	3	1	49	1	0	0	0	0	1	0	0	0	900	1116	39	1	4367	1	ARHGEF17	11	73071483	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1132223	73071483	61935033	961	39842											
ARHGEF17	9828	broad.mit.edu	37	chr11	73071553	73071553	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccttggttttgaacaggcCttcgatgaggccaagaggaa	13	9	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:73071553C>A	uc001otu.2	+	11	4416	c.4395C>A	c.(4393-4395)GCC>GCA	p.A1465A		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1465					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						TTGAACAGGCCTTCGATGAGG	0.602													A	73071553	C	A	73071553	2	1	49	1	0	0	0	0	0	0	0	1	900	668	24	5		5	ARHGEF17	11	73071553	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	70	73071553	61934963	962	39843											
MAP6	4135	broad.mit.edu	37	chr11	75298476	75298476	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagaatcgtgaacctttgcAtgctctgggactacaacatc	9	11	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:75298476A>G	uc001owu.2	-	4	2135	c.2070T>C	c.(2068-2070)CAT>CAC	p.H690H		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6 isoform 1	690	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding				0	Ovarian(111;0.11)					GAACCTTTGCATGCTCTGGGA	0.483													G	75298476	A	G	75298476	2	3	49	1	0	0	0	0	0	0	0	1	9264	214	8	3		3	MAP6	11	75298476	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	2226923	75298476	59708040	963	39844											
CCDC83	220047	broad.mit.edu	37	chr11	85593593	85593593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacagatttggcacatacGgcatctactaaaggaactga	9	8	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:85593593G>A	uc001pbh.1	+	4	730	c.218G>A	c.(217-219)CGG>CAG	p.R73Q	CCDC83_uc001pbg.1_Missense_Mutation_p.R73Q|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.R30Q	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	73	Potential.									skin(1)	1		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TGGCACATACGGCATCTACTA	0.383													A	85593593	G	A	85593593	3	1	49	1	0	0	0	0	1	0	0	0	2857	1116	39	1	228	1	CCDC83	11	85593593	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	10295117	85593593	49412923	964	39845											
CTSC	1075	broad.mit.edu	37	chr11	88068108	88068108	+	Frame_Shift_Del	DEL	A	A	-													cttccaacaaaactaaccttAaaaaaggcaaaccacttgta							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:88068107_88068107TA>T	uc001pck.4	-	1	417	c.316_316TA>A	c.(316-318)aagfs	p.K106fs	CTSC_uc001pcl.4_5'UTR|CTSC_uc001pcm.4_Frame_Shift_Del_p.K106fs|CTSC_uc001pcn.4_Frame_Shift_Del_p.K106fs	NM_001814	NP_001805	P53634	CATC_HUMAN	Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA.	106					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAACTAACCTTAAAAAAGGCA	0.338													-	88068108	A	-	88068108	7	5	49	1	0	1	0	1	0	0	0	0	4031	359	13	0	1231	0	CTSC	11	88068108	Frame_Shift_Del	DEL	A	TCGA-BR-7707-01A-11D-2053-08	2474515	88068108	46938408	965	39846											
MTNR1B	4544	broad.mit.edu	37	chr11	92702976	92702976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgggggctggcagcgcgCggccctccaggacccctcga	17	16	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:92702976C>T	uc001pdk.1	+	1	188	c.85C>T	c.(85-87)CGG>TGG	p.R29W		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	29	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	TGGCAGCGCGCGGCCCTCCAG	0.721													T	92702976	C	T	92702976	3	4	49	1	0	0	0	0	1	0	0	0	9952	759	27	1	87	1	MTNR1B	11	92702976	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	4634868	92702976	42303540	966	39847											
MMP12	4321	broad.mit.edu	37	chr11	102742539	102742539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacaagttccctacctccaCgggcaaaaaccaccaaaatg	5	14	0	0	rs61730845	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:102742539C>T	uc001phk.2	-	3	539	c.494G>A	c.(493-495)CGT>CAT	p.R165H		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	165					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	CCTACCTCCACGGGCAAAAAC	0.408													T	102742539	C	T	102742539	3	4	49	1	0	0	0	0	1	0	0	0	9651	536	19	1	949	1	MMP12	11	102742539	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	10039563	102742539	32263977	967	39848											
CWF19L2	143884	broad.mit.edu	37	chr11	107219755	107219755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccctcagtaagagaccGtacgttgggtaaacataaat	10	9	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:107219755G>A	uc010rvp.1	-	14	2140	c.2110C>T	c.(2110-2112)CGG>TGG	p.R704W	CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control	704							catalytic activity				0		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		GTAAGAGACCGTACGTTGGGT	0.368													A	107219755	G	A	107219755	3	1	49	1	0	0	0	0	1	0	0	0	4072	1144	40	1	594	1	CWF19L2	11	107219755	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4477216	107219755	27786761	968	39849											
CUL5	8065	broad.mit.edu	37	chr11	107959318	107959318	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaattactgtgacatgTtgctaagaaaaacaccatta	6	8	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:107959318T>C	uc001pjv.2	+	12	1910	c.1243T>C	c.(1243-1245)TTG>CTG	p.L415L	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	415					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		CTGTGACATGTTGCTAAGAAA	0.333													C	107959318	T	C	107959318	2	2	49	1	0	0	0	0	0	0	0	1	4059	1722	60	3		3	CUL5	11	107959318	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	739563	107959318	27047198	969	39850											
ATM	472	broad.mit.edu	37	chr11	108201105	108201105	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attccgactttgttccctctGgcttgaaaattctggagttt	8	9	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:108201105G>T	uc001pkb.1	+	50	7857	c.7472G>T	c.(7471-7473)TGG>TTG	p.W2491L	ATM_uc009yxr.1_Missense_Mutation_p.W2491L|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.W1143L|ATM_uc001pkg.1_Missense_Mutation_p.W848L	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2491	FAT.		W -> R (in AT).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGTTCCCTCTGGCTTGAAAAT	0.363			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			T	108201105	G	T	108201105	3	4	49	1	0	0	0	0	1	0	0	0	1109	1357	47	5	7666	5	ATM	11	108201105	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	241787	108201105	26805411	970	39851											
C11orf52	91894	broad.mit.edu	37	chr11	111796804	111796804	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgctgacattcaagtgtgcAgccgtccccatgcccgggaa	11	13	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:111796804A>C	uc001pmh.2	+	5	736	c.253A>C	c.(253-255)AGC>CGC	p.S85R	C11orf52_uc001pmi.2_Missense_Mutation_p.S85R	NM_080659	NP_542390	Q96A22	CK052_HUMAN	hypothetical protein LOC91894	85										ovary(1)	1		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		TCAAGTGTGCAGCCGTCCCCA	0.527													C	111796804	A	C	111796804	3	2	49	1	0	0	0	0	1	0	0	0	1647	188	7	5	267	5	C11orf52	11	111796804	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	3595699	111796804	23209712	971	39852											
DIXDC1	85458	broad.mit.edu	37	chr11	111866190	111866190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaacagcttcagtggccacGatcctcagcaccacactatt	7	15	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:111866190G>A	uc001pml.2	+	17	1888	c.1591G>A	c.(1591-1593)GAT>AAT	p.D531N	DIXDC1_uc001pmm.2_Missense_Mutation_p.D320N|DIXDC1_uc001pmn.2_Missense_Mutation_p.D237N|DIXDC1_uc010rwq.1_Missense_Mutation_p.D196N	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	531					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			ovary(1)	1		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CAGTGGCCACGATCCTCAGCA	0.542													A	111866190	G	A	111866190	3	1	49	1	0	0	0	0	1	0	0	0	4541	1058	37	1	1679	1	DIXDC1	11	111866190	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	69386	111866190	23140326	972	39853											
ZW10	9183	broad.mit.edu	37	chr11	113639659	113639659	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctaggcaggaattcactgtActtcttgctaatcatattgc	8	9	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:113639659A>G	uc001poe.2	-	2	173	c.136T>C	c.(136-138)TAC>CAC	p.Y46H	ZW10_uc009yyv.2_RNA	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	46	Interaction with RINT1.|Interaction with ZWINT.|Potential.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AATTCACTGTACTTCTTGCTA	0.393													G	113639659	A	G	113639659	3	3	49	1	0	0	0	0	1	0	0	0	18244	391	14	3	2263	3	ZW10	11	113639659	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1773469	113639659	21366857	973	39854											
RNF214	257160	broad.mit.edu	37	chr11	117105026	117105026	+	Frame_Shift_Del	DEL	C	C	-													tgctggtgttgtggccaatgCccccagtcctccggaatctt							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:117105025_117105025GC>G	uc001pqt.3	+	1	82	c.37_37GC>G	c.(37-39)gccfs	p.A13fs	PCSK7_uc001pqr.3_5'Flank|RNF214_uc001pqu.3_Frame_Shift_Del_p.A13fs|RNF214_uc010rxf.2_Frame_Shift_Del_p.A13fs	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA.	13							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TGTGGCCAATGCCCCCAGTCC	0.443													-	117105026	C	-	117105026	7	5	49	1	0	1	0	1	0	0	0	0	13478	739	26	0	40	0	RNF214	11	117105026	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	3465367	117105026	17901490	974	39855											
UBE4A	9354	broad.mit.edu	37	chr11	118252213	118252213	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcatgtccttcactttatcAccattttcactggaagcata	5	11	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:118252213A>G	uc001psw.2	+	12	2113	c.1984A>G	c.(1984-1986)ACC>GCC	p.T662A	UBE4A_uc001psv.2_Missense_Mutation_p.T669A	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	662					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TCACTTTATCACCATTTTCAC	0.418													G	118252213	A	G	118252213	3	3	49	1	0	0	0	0	1	0	0	0	16879	159	6	3	2047	3	UBE4A	11	118252213	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1147187	118252213	16754303	975	39856											
MLL	4297	broad.mit.edu	37	chr11	118375915	118375915	+	Frame_Shift_Del	DEL	A	A	-													tcttccaaatggagtgacccAaaaaatccaattgacctctt							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:118375914_118375914CA>C	uc001pta.3	+	26	9321	c.9298_9298CA>C	c.(9298-9300)caafs	p.Q3100fs	MLL_uc001ptb.3_Frame_Shift_Del_p.Q3103fs	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	3100					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TGGAGTGACCCAAAAAATCCA	0.468			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								-	118375915	A	-	118375915	7	5	49	1	0	1	0	1	0	0	0	0	9620	130	5	0	9405	0	MLL	11	118375915	Frame_Shift_Del	DEL	A	TCGA-BR-7707-01A-11D-2053-08	123702	118375915	16630601	976	39857											
PHLDB1	23187	broad.mit.edu	37	chr11	118516165	118516165	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagtgggatgcccttcaCggggcagcacccttcccagc	12	16	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:118516165C>T	uc001ptr.1	+	17	3566	c.3213C>T	c.(3211-3213)CAC>CAT	p.H1071H	PHLDB1_uc001pts.2_Silent_p.H1071H|PHLDB1_uc001ptt.2_Silent_p.H1024H|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Silent_p.H886H|PHLDB1_uc001ptw.1_Silent_p.H426H|PHLDB1_uc009zai.1_Silent_p.H107H|PHLDB1_uc001ptx.1_Silent_p.H107H|PHLDB1_uc010ryi.1_Silent_p.H214H	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	1071											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ATGCCCTTCACGGGGCAGCAC	0.657													T	118516165	C	T	118516165	2	4	49	1	0	0	0	0	0	0	0	1	11851	535	19	1		1	PHLDB1	11	118516165	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	140250	118516165	16490351	977	39858											
DDX6	1656	broad.mit.edu	37	chr11	118629614	118629615	+	Splice_Site	INS	-	-	G													ttctgcaaatgggaattctgINSgggggggagcgggaaaaaga							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:118629613_118629614T>TG	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL								G	118629615	-	G	118629614	8	5	49	1	0	1	1	0	0	0	1	0	4377	1363	47	0		0	DDX6	11	118629614	Splice_Site	INS	-	TCGA-BR-7707-01A-11D-2053-08	113449	118629614	16376902	978	39859											
FOXR1	283150	broad.mit.edu	37	chr11	118849724	118849724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaacattgtgtatccccCtggaaagctggaggtctcag	10	12	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:118849724C>T	uc001pui.2	+	3	419	c.194C>T	c.(193-195)CCT>CTT	p.P65L	FOXR1_uc001puj.2_RNA|FOXR1_uc001puk.2_5'UTR	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN	forkhead box R1	65					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GTGTATCCCCCTGGAAAGCTG	0.547													T	118849724	C	T	118849724	3	4	49	1	0	0	0	0	1	0	0	0	6031	681	24	4	204	4	FOXR1	11	118849724	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	220110	118849724	16156792	979	39860											
HMBS	3145	broad.mit.edu	37	chr11	118963703	118963703	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatagcatacaagagaccaTgcaggctaccatccatgtcc	8	12	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:118963703T>C	uc001puz.1	+	13	1041	c.884T>C	c.(883-885)ATG>ACG	p.M295T	HMBS_uc001pvc.1_Missense_Mutation_p.M240T|HMBS_uc009zap.1_Missense_Mutation_p.M278T|HMBS_uc001pva.1_Missense_Mutation_p.M255T|HMBS_uc001pvb.1_Missense_Mutation_p.M264T|HMBS_uc001pvd.1_Missense_Mutation_p.M278T|HMBS_uc001pve.1_Missense_Mutation_p.M238T|HMBS_uc001pvf.1_Missense_Mutation_p.M278T	NM_000190	NP_000181	P08397	HEM3_HUMAN	hydroxymethylbilane synthase isoform 1	295					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity				0	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CAAGAGACCATGCAGGCTACC	0.522									Porphyria_Acute_Intermittent				C	118963703	T	C	118963703	3	2	49	1	0	0	0	0	1	0	0	0	7219	1464	51	3	934	3	HMBS	11	118963703	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	113979	118963703	16042813	980	39861											
ARHGEF12	23365	broad.mit.edu	37	chr11	120317769	120317769	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcggacatgtgcagaacagAttgttgccaaaattgaagaa	11	6	0	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:120317769A>T	uc001pxl.1	+	18	1571	c.1564A>T	c.(1564-1566)ATT>TTT	p.I522F	ARHGEF12_uc009zat.2_Missense_Mutation_p.I503F|ARHGEF12_uc010rzn.1_Missense_Mutation_p.I419F|ARHGEF12_uc009zau.1_Missense_Mutation_p.I419F	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	522	RGSL.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TGCAGAACAGATTGTTGCCAA	0.438			T	MLL	AML								T	120317769	A	T	120317769	3	4	49	1	0	0	0	0	1	0	0	0	897	333	12	5	1634	5	ARHGEF12	11	120317769	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1354066	120317769	14688747	981	39862											
GRIK4	2900	broad.mit.edu	37	chr11	120776003	120776003	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagttttgctgcaggagaAcccatatttaatgctgaagg	10	9	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:120776003A>C	uc001pxn.2	+	13	1564	c.1277A>C	c.(1276-1278)AAC>ACC	p.N426T	GRIK4_uc009zav.1_Missense_Mutation_p.N426T|GRIK4_uc009zaw.1_Missense_Mutation_p.N426T|GRIK4_uc009zax.1_Missense_Mutation_p.N426T	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	426	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CTGCAGGAGAACCCATATTTA	0.577													C	120776003	A	C	120776003	3	2	49	1	0	0	0	0	1	0	0	0	6776	43	2	5	1319	5	GRIK4	11	120776003	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	458234	120776003	14230513	982	39863											
TBCEL	219899	broad.mit.edu	37	chr11	120929174	120929174	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgaaggaaattggtaaTagccaggtctgttgtcctga	14	6	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:120929174T>A	uc009zay.2	+	6	911	c.833T>A	c.(832-834)ATA>AAA	p.I278K	TBCEL_uc001pxo.2_Missense_Mutation_p.I278K|TBCEL_uc001pxp.2_Missense_Mutation_p.I134K|TBCEL_uc001pxq.2_RNA	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	278	LRRCT.					cytoplasm|cytoskeleton				skin(1)	1		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		AAATTGGTAATAGCCAGGTCT	0.383													A	120929174	T	A	120929174	3	1	49	1	0	0	0	0	1	0	0	0	15632	1406	49	5	851	5	TBCEL	11	120929174	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	153171	120929174	14077342	983	39864											
TECTA	7007	broad.mit.edu	37	chr11	121000699	121000699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagctgctcaagttttatcGaagccgctccaggtgcggca	13	11	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:121000699G>A	uc010rzo.1	+	9	2720	c.2720G>A	c.(2719-2721)CGA>CAA	p.R907Q		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	907	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AAGTTTTATCGAAGCCGCTCC	0.557													A	121000699	G	A	121000699	3	1	49	1	0	0	0	0	1	0	0	0	15744	1058	37	1	2754	1	TECTA	11	121000699	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	71525	121000699	14005817	984	39865											
GRAMD1B	57476	broad.mit.edu	37	chr11	123483485	123483485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagggtctccacagagctgCgctatcgaaaacagccctgg	11	13	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:123483485C>T	uc001pyx.2	+	14	1836	c.1507C>T	c.(1507-1509)CGC>TGC	p.R503C	GRAMD1B_uc001pyw.2_Missense_Mutation_p.R510C|GRAMD1B_uc010rzw.1_Missense_Mutation_p.R463C|GRAMD1B_uc010rzx.1_Missense_Mutation_p.R463C|GRAMD1B_uc001pyy.2_Missense_Mutation_p.R194C	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	503						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CACAGAGCTGCGCTATCGAAA	0.537													T	123483485	C	T	123483485	3	4	49	1	0	0	0	0	1	0	0	0	6748	768	27	1	1561	1	GRAMD1B	11	123483485	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2482786	123483485	11523031	985	39866											
ACRV1	56	broad.mit.edu	37	chr11	125547803	125547803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgttcaccggagccatGttcacctgaaggctgttcat	11	11	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:125547803G>A	uc001qcs.2	-	2	709	c.442C>T	c.(442-444)CAT>TAT	p.H148Y	ACRV1_uc001qck.2_Missense_Mutation_p.H78Y|ACRV1_uc001qcl.2_Missense_Mutation_p.H78Y|ACRV1_uc001qcm.2_Intron|ACRV1_uc001qcn.2_Missense_Mutation_p.H93Y|ACRV1_uc001qco.2_Missense_Mutation_p.H53Y|ACRV1_uc001qcp.2_Intron|ACRV1_uc001qcq.2_Missense_Mutation_p.H78Y|ACRV1_uc001qcr.2_Missense_Mutation_p.H148Y	NM_001612	NP_001603	P26436	ASPX_HUMAN	acrosomal vesicle protein 1 isoform a precursor	148	4 X 4 AA repeats of S-G-E-H.|2-3.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development	acrosomal vesicle					0	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		CCGGAGCCATGTTCACCTGAA	0.547													A	125547803	G	A	125547803	3	1	49	1	0	0	0	0	1	0	0	0	172	1377	48	4	367	4	ACRV1	11	125547803	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2064318	125547803	9458713	986	39867											
SRPR	6734	broad.mit.edu	37	chr11	126136701	126136701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgcttctgaatgaactcctCgcgcttcctgcggatcagct	9	13	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:126136701C>T	uc001qdh.2	-	5	694	c.643G>A	c.(643-645)GAG>AAG	p.E215K	SRPR_uc010sbm.1_Missense_Mutation_p.E187K|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	215					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		ATGAACTCCTCGCGCTTCCTG	0.502													T	126136701	C	T	126136701	3	4	49	1	0	0	0	0	1	0	0	0	15161	893	31	1	1313	1	SRPR	11	126136701	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	588898	126136701	8869815	987	39868											
KIRREL3	84623	broad.mit.edu	37	chr11	126396494	126396494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccacagaacgaagccatcGtattcggggatggcgcaaag	12	10	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:126396494G>A	uc001qea.2	-	3	583	c.222C>T	c.(220-222)TAC>TAT	p.Y74Y	KIRREL3_uc001qeb.2_Silent_p.Y74Y|KIRREL3_uc001qec.1_Silent_p.Y74Y	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	74	Ig-like C2-type 1.|Extracellular (Potential).				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CGAAGCCATCGTATTCGGGGA	0.617													A	126396494	G	A	126396494	2	1	49	1	0	0	0	0	0	0	0	1	8326	1140	40	1		1	KIRREL3	11	126396494	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	259793	126396494	8610022	988	39869											
NCAPD3	23310	broad.mit.edu	37	chr11	134073985	134073985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccaggcaatgaacatagCgtattccccacaaggaagtt	9	10	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:134073985C>T	uc001qhd.1	-	10	1777	c.1171G>A	c.(1171-1173)GCT>ACT	p.A391T	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	391					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ATGAACATAGCGTATTCCCCA	0.423													T	134073985	C	T	134073985	3	4	49	1	0	0	0	0	1	0	0	0	10206	768	27	1	3429	1	NCAPD3	11	134073985	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	7677491	134073985	932531	989	39870											
THYN1	29087	broad.mit.edu	37	chr11	134121181	134121181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagttctcagttttggtgCgttttcctgatagtcccttg	10	9	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:134121181C>T	uc001qhf.2	-	3	167	c.65G>A	c.(64-66)CGC>CAC	p.R22H	THYN1_uc001qhg.2_Missense_Mutation_p.R22H|THYN1_uc001qhh.2_Missense_Mutation_p.R22H|THYN1_uc001qhi.2_Missense_Mutation_p.R22H|THYN1_uc001qhj.2_Missense_Mutation_p.R22H|THYN1_uc009zdb.2_Missense_Mutation_p.R22H|ACAD8_uc009zdc.2_5'Flank|ACAD8_uc010sco.1_5'Flank|ACAD8_uc010scp.1_5'Flank|ACAD8_uc010scq.1_5'Flank|ACAD8_uc001qhk.2_5'Flank|ACAD8_uc001qhl.2_5'Flank	NM_001037305	NP_001032382	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1 isoform 1	22						nucleus					0	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		AGTTTTGGTGCGTTTTCCTGA	0.343													T	134121181	C	T	134121181	3	4	49	1	0	0	0	0	1	0	0	0	15883	768	27	1	636	1	THYN1	11	134121181	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	47196	134121181	885335	990	39871											
CACNA1C	775	broad.mit.edu	37	chr12	2786373	2786373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagccctcccagaggaacGcgctgtctctgcaggtgagg	14	13	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:2786373G>A	uc009zdu.1	+	42	5399	c.5086G>A	c.(5086-5088)GCG>ACG	p.A1696T	CACNA1C_uc009zdv.1_Missense_Mutation_p.A1645T|CACNA1C_uc001qkb.2_Missense_Mutation_p.A1648T|CACNA1C_uc001qkc.2_Missense_Mutation_p.A1667T|CACNA1C_uc001qke.2_Missense_Mutation_p.A1637T|CACNA1C_uc001qkf.2_Missense_Mutation_p.A1656T|CACNA1C_uc001qjz.2_Missense_Mutation_p.A1648T|CACNA1C_uc001qkd.2_Missense_Mutation_p.A1667T|CACNA1C_uc001qkg.2_Missense_Mutation_p.A1654T|CACNA1C_uc009zdw.1_Missense_Mutation_p.A1689T|CACNA1C_uc001qkh.2_Missense_Mutation_p.A1656T|CACNA1C_uc001qkl.2_Missense_Mutation_p.A1696T|CACNA1C_uc001qkn.2_Missense_Mutation_p.A1648T|CACNA1C_uc001qko.2_Missense_Mutation_p.A1668T|CACNA1C_uc001qkp.2_Missense_Mutation_p.A1648T|CACNA1C_uc001qkr.2_Missense_Mutation_p.A1665T|CACNA1C_uc001qku.2_Missense_Mutation_p.A1648T|CACNA1C_uc001qkq.2_Missense_Mutation_p.A1676T|CACNA1C_uc001qks.2_Missense_Mutation_p.A1648T|CACNA1C_uc001qkt.2_Missense_Mutation_p.A1667T|CACNA1C_uc001qki.1_Missense_Mutation_p.A1384T|CACNA1C_uc001qkj.1_Missense_Mutation_p.A1384T|CACNA1C_uc001qkk.1_Missense_Mutation_p.A1384T|CACNA1C_uc001qkm.1_Missense_Mutation_p.A1373T|CACNA1C_uc010sea.1_Missense_Mutation_p.A339T|uc001qkx.1_RNA|CACNA1C_uc001qky.1_5'Flank	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1696	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCAGAGGAACGCGCTGTCTCT	0.632													A	2786373	G	A	2786373	3	1	49	1	0	0	0	0	1	0	0	0	2540	1087	38	1	5483	1	CACNA1C	12	2786373	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08		2786373	131065522	991	39872											
PRMT8	56341	broad.mit.edu	37	chr12	3701425	3701425	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccctacacccactggaaGcagaccgtcttctacttgga	8	15	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:3701425G>A	uc001qmf.2	+	9	1375	c.1008G>A	c.(1006-1008)AAG>AAA	p.K336K	PRMT8_uc009zed.2_Silent_p.K327K|PRMT8_uc001qmg.2_Silent_p.K150K|PRMT8_uc001qmh.2_RNA	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	HMT1 hnRNP methyltransferase-like 4	336					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			ovary(3)|central_nervous_system(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CCCACTGGAAGCAGACCGTCT	0.537													A	3701425	G	A	3701425	2	1	49	1	0	0	0	0	0	0	0	1	12542	962	34	2		2	PRMT8	12	3701425	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	915052	3701425	130150470	992	39873											
KCNA5	3741	broad.mit.edu	37	chr12	5154886	5154886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcaactacttctaccacCgggaaacggatcacgaggag	9	12	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:5154886C>T	uc001qni.2	+	1	1802	c.1573C>T	c.(1573-1575)CGG>TGG	p.R525W		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	525						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						CTTCTACCACCGGGAAACGGA	0.637													T	5154886	C	T	5154886	3	4	49	1	0	0	0	0	1	0	0	0	8006	643	23	1	1575	1	KCNA5	12	5154886	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1453461	5154886	128697009	993	39874											
CHD4	1108	broad.mit.edu	37	chr12	6707121	6707121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcccatagcgatagaagcGttcctccatctctgcaaatt	6	12	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:6707121G>A	uc001qpo.2	-	12	1995	c.1831C>T	c.(1831-1833)CGC>TGC	p.R611C	CHD4_uc001qpn.2_Missense_Mutation_p.R604C|CHD4_uc001qpp.2_Missense_Mutation_p.R608C	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	611					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CGATAGAAGCGTTCCTCCATC	0.512													A	6707121	G	A	6707121	3	1	49	1	0	0	0	0	1	0	0	0	3327	1145	40	1	4023	1	CHD4	12	6707121	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1552235	6707121	127144774	994	39875											
SLC2A14	144195	broad.mit.edu	37	chr12	7970451	7970451	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagaggggaagagcaatccGactaggaagttggaggtcca	16	7	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:7970451G>A	uc001qtk.2	-	15	2113	c.1320C>T	c.(1318-1320)GTC>GTT	p.V440V	SLC2A14_uc001qtl.2_Silent_p.V417V|SLC2A14_uc001qtm.2_Silent_p.V417V|SLC2A14_uc010sgg.1_Silent_p.V331V|SLC2A14_uc001qtn.2_Silent_p.V440V|SLC2A14_uc001qto.2_Silent_p.V75V|SLC2A14_uc010sgh.1_Silent_p.V455V	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	glucose transporter 14	440	Helical; Name=11; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			ovary(1)	1				Kidney(36;0.0883)		AGAGCAATCCGACTAGGAAGT	0.413													A	7970451	G	A	7970451	2	1	49	1	0	0	0	0	0	0	0	1	14543	1045	37	1		1	SLC2A14	12	7970451	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1263330	7970451	125881444	995	39876											
CLEC1A	51267	broad.mit.edu	37	chr12	10224068	10224068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccattaaggatggccacaCagtctctgcttcttgggctg	10	12	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:10224068C>T	uc001qxb.2	-	6	791	c.707G>A	c.(706-708)TGT>TAT	p.C236Y	CLEC1A_uc009zhf.2_Missense_Mutation_p.C148Y|CLEC1A_uc001qxc.2_Missense_Mutation_p.C148Y|CLEC1A_uc001qxd.2_Missense_Mutation_p.C193Y|CLEC1A_uc010sgx.1_Missense_Mutation_p.C134Y	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	C-type lectin-like receptor-1	236	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2						GATGGCCACACAGTCTCTGCT	0.398													T	10224068	C	T	10224068	3	4	49	1	0	0	0	0	1	0	0	0	3505	478	17	4	139	4	CLEC1A	12	10224068	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2253617	10224068	123627827	996	39877											
GPR19	2842	broad.mit.edu	37	chr12	12815196	12815196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggctgtggccacttcccCgggtttcagcacatagtgaa	12	12	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:12815196C>T	uc001rar.3	-	2	380	c.187G>A	c.(187-189)GGG>AGG	p.G63R	GPR19_uc001raq.2_Missense_Mutation_p.G63R	NM_006143	NP_006134	Q15760	GPR19_HUMAN	G protein-coupled receptor 19	63	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GCCACTTCCCCGGGTTTCAGC	0.488													T	12815196	C	T	12815196	3	4	49	1	0	0	0	0	1	0	0	0	6679	652	23	1	1064	1	GPR19	12	12815196	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2591128	12815196	121036699	997	39878											
KIAA1467	57613	broad.mit.edu	37	chr12	13232857	13232857	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taatggagggccagatggctCagctacaggagtccaccccc	12	13	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:13232857C>T	uc001rbi.2	+	12	1800	c.1777C>T	c.(1777-1779)CAG>TAG	p.Q593*	KIAA1467_uc009zhx.1_RNA	NM_020853	NP_065904	A2RU67	K1467_HUMAN	hypothetical protein LOC57613	593						integral to membrane				central_nervous_system(2)|skin(1)	3		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CCAGATGGCTCAGCTACAGGA	0.562													T	13232857	C	T	13232857	4	4	49	1	0	0	0	0	0	1	0	0	8235	827	29	4	1823	4	KIAA1467	12	13232857	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	417661	13232857	120619038	998	39879											
WBP11	51729	broad.mit.edu	37	chr12	14944150	14944152	+	In_Frame_Del	DEL	TTC	TTC	-													gaggagtcagttccttcatgTtcttctttttcttccttgat					rs141625773		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:14944149_14944151GTTC>G	uc001rci.3	-	8	1128_1130	c.967_969GAAC>C	c.(967-969)aac>C	p.N323del		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	Homo sapiens WW domain binding protein 11 (WBP11), mRNA.	323					RNA splicing|mRNA processing|rRNA processing	cytoplasm	WW domain binding|single-stranded DNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GTTCCTTCATGTTCTTCTTTTTC	0.433													-	14944152	TTC	-	14944150	7	5	49	1	0	1	0	1	0	0	0	0	17255	1725	60	0	973	0	WBP11	12	14944150	In_Frame_Del	DEL	TTC	TCGA-BR-7707-01A-11D-2053-08	1711293	14944150	118907745	999	39880											
GOLT1B	51026	broad.mit.edu	37	chr12	21665245	21665245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggggcttctttcctgtcGttgttggctttattagaaga	11	8	1	2	rs34378602	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:21665245G>A	uc001rez.2	+	4	472	c.313G>A	c.(313-315)GTT>ATT	p.V105I	GOLT1B_uc009zis.2_RNA|GOLT1B_uc009zit.2_RNA|GOLT1B_uc009ziu.2_RNA	NM_016072	NP_057156	Q9Y3E0	GOT1B_HUMAN	golgi transport 1 homolog B	105	Phe-rich.|Helical; Name=4; (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	endoplasmic reticulum|Golgi membrane|integral to membrane	signal transducer activity				0						CTTTCCTGTCGTTGTTGGCTT	0.343													A	21665245	G	A	21665245	3	1	49	1	0	0	0	0	1	0	0	0	6571	1145	40	1	327	1	GOLT1B	12	21665245	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	6721095	21665245	112186650	1000	39881											
SOX5	6660	broad.mit.edu	37	chr12	23999035	23999035	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtactagacaaggactcGccactctgtcgcccaccttc	8	16	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:23999035G>A	uc001rfw.2	-	3	465	c.363C>T	c.(361-363)GGC>GGT	p.G121G	SOX5_uc001rfx.2_Silent_p.G108G|SOX5_uc001rfy.2_Silent_p.G108G|SOX5_uc010siv.1_Silent_p.G108G|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Silent_p.G73G|SOX5_uc001rga.2_Silent_p.G86G	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	121					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						ACAAGGACTCGCCACTCTGTC	0.493													A	23999035	G	A	23999035	2	1	49	1	0	0	0	0	0	0	0	1	14954	1074	38	1		1	SOX5	12	23999035	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2333790	23999035	109852860	1001	39882											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:25398284C>T	uc001rgp.1	-	2	216	c.35G>A	c.(34-36)GGT>GAT	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25398284	C	T	25398284	3	4	49	1	0	0	0	0	1	0	0	0	8438	507	18	4	671	4	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1399249	25398284	108453611	1002	39883											
IPO8	10526	broad.mit.edu	37	chr12	30792613	30792613	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacatagtacgaagctcactAgttttgacccctcgagttaa	7	11	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:30792613A>G	uc001rjd.2	-	21	2495	c.2325T>C	c.(2323-2325)ACT>ACC	p.T775T	IPO8_uc001rje.1_Silent_p.T264T|IPO8_uc010sjt.1_Silent_p.T570T	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	775					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAAGCTCACTAGTTTTGACCC	0.433													G	30792613	A	G	30792613	2	3	49	1	0	0	0	0	0	0	0	1	7798	407	15	3		3	IPO8	12	30792613	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	5394329	30792613	103059282	1003	39884											
IPO8	10526	broad.mit.edu	37	chr12	30826944	30826944	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgaatgcccactgcatAggttttcaaaaagaattcag	8	9	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:30826944A>G	uc001rjd.2	-	8	1059	c.889T>C	c.(889-891)TAT>CAT	p.Y297H	IPO8_uc010sjt.1_Missense_Mutation_p.Y92H	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	297					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCCACTGCATAGGTTTTCAAA	0.323													G	30826944	A	G	30826944	3	3	49	1	0	0	0	0	1	0	0	0	7798	420	15	3	2296	3	IPO8	12	30826944	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	34331	30826944	103024951	1004	39885											
FAM113B	91523	broad.mit.edu	37	chr12	47629940	47629940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccctcatcagcccatgCaggtttcttcgtcgaagaca	8	14	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:47629940C>T	uc001rpn.2	+	4	1825	c.1094C>T	c.(1093-1095)GCA>GTA	p.A365V	FAM113B_uc001rpq.2_Missense_Mutation_p.A365V	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	365	Pro-rich.						hydrolase activity			skin(3)|ovary(2)	5	Renal(347;0.138)|Lung SC(27;0.192)					TCAGCCCATGCAGGTTTCTTC	0.532													T	47629940	C	T	47629940	3	4	49	1	0	0	0	0	1	0	0	0	5402	710	25	2	1096	2	FAM113B	12	47629940	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	16802996	47629940	86221955	1005	39886											
ZNF641	121274	broad.mit.edu	37	chr12	48737243	48737243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttgatgcctggcaaggtggGaaccccatacaaactgtttc	11	10	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:48737243G>A	uc001rrn.1	-	6	995	c.830C>T	c.(829-831)TCC>TTC	p.S277F	ZNF641_uc001rro.1_Missense_Mutation_p.S263F|ZNF641_uc010sls.1_Missense_Mutation_p.S254F	NM_152320	NP_689533	Q96N77	ZN641_HUMAN	zinc finger protein 641	277	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						GGCAAGGTGGGAACCCCATAC	0.522													A	48737243	G	A	48737243	3	1	49	1	0	0	0	0	1	0	0	0	18054	1174	41	4	490	4	ZNF641	12	48737243	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1107303	48737243	85114652	1006	39887											
ADCY6	112	broad.mit.edu	37	chr12	49165623	49165623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taacagccacacactcacacGactgatagtagagttcatca	6	12	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:49165623G>A	uc001rsh.3	-	18	3581	c.2921C>T	c.(2920-2922)TCG>TTG	p.S974L	ADCY6_uc001rsj.3_Missense_Mutation_p.S974L|ADCY6_uc001rsi.3_Missense_Mutation_p.S921L|ADCY6_uc010slw.1_Missense_Mutation_p.S205L	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	974	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0						ACACTCACACGACTGATAGTA	0.562													A	49165623	G	A	49165623	3	1	49	1	0	0	0	0	1	0	0	0	298	1059	37	1	601	1	ADCY6	12	49165623	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	428380	49165623	84686272	1007	39888											
WNT10B	7480	broad.mit.edu	37	chr12	49361903	49361903	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcttgagccagggccaggGctgggcagagagtgggggaa	22	7	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:49361903G>A	uc001rss.2	-	4	883	c.537C>T	c.(535-537)AGC>AGT	p.S179S	WNT10B_uc001rst.2_Intron	NM_003394	NP_003385	O00744	WN10B_HUMAN	wingless-type MMTV integration site family,	179					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			skin(4)|lung(3)	7						cagggccagggctgggCAGAG	0.473													A	49361903	G	A	49361903	2	1	49	1	0	0	0	0	0	0	0	1	17380	1194	42	2		2	WNT10B	12	49361903	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	196280	49361903	84489992	1008	39889											
MLL2	8085	broad.mit.edu	37	chr12	49425776	49425776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtagggtggggtctggcGtactgcctgactctgctgca	16	10	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:49425776G>A	uc001rta.3	-	39	12712	c.12712C>T	c.(12712-12714)CGC>TGC	p.R4238C		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4238	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.R3968C(1)		kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGGGTCTGGCGTACTGCCTGA	0.642			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49425776	G	A	49425776	3	1	49	1	0	0	0	0	1	0	0	0	9621	1145	40	1	3965	1	MLL2	12	49425776	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	63873	49425776	84426119	1009	39890											
KCNH3	23416	broad.mit.edu	37	chr12	49948156	49948156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctgtgagctgccccggcGggagcaggtggtaaaggcca	18	11	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:49948156G>A	uc001ruh.1	+	11	2215	c.1955G>A	c.(1954-1956)CGG>CAG	p.R652Q	KCNH3_uc010smj.1_Missense_Mutation_p.R592Q	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	652	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						CTGCCCCGGCGGGAGCAGGTG	0.637													A	49948156	G	A	49948156	3	1	49	1	0	0	0	0	1	0	0	0	8033	1116	39	1	1997	1	KCNH3	12	49948156	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	522380	49948156	83903739	1010	39891											
GPD1	2819	broad.mit.edu	37	chr12	50498451	50498451	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtatttgaggaagacattGgaggcaaaaagctgactgag	15	4	0	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:50498451G>T	uc001rvz.2	+	2	169	c.136G>T	c.(136-138)GGA>TGA	p.G46*	GPD1_uc010smp.1_Nonsense_Mutation_p.G46*|GPD1_uc001rwa.2_Nonsense_Mutation_p.G46*	NM_005276	NP_005267	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	46					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity				0					NADH(DB00157)	GGAAGACATTGGAGGCAAAAA	0.552													T	50498451	G	T	50498451	4	4	49	1	0	0	0	0	0	1	0	0	6604	1349	47	5	142	5	GPD1	12	50498451	Nonsense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	550295	50498451	83353444	1011	39892											
LETMD1	25875	broad.mit.edu	37	chr12	51450008	51450008	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatcctctgggcatgaacCaactccaggctttgcacgtg	9	14	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:51450008C>T	uc001rxm.2	+	6	798	c.742C>T	c.(742-744)CAA>TAA	p.Q248*	LETMD1_uc010smz.1_Nonsense_Mutation_p.Q198*|LETMD1_uc010sna.1_Intron|LETMD1_uc001rxl.2_Nonsense_Mutation_p.Q192*|LETMD1_uc009zlv.2_Intron|LETMD1_uc001rxs.2_Intron|LETMD1_uc009zlw.2_Nonsense_Mutation_p.Q261*|LETMD1_uc001rxn.2_Nonsense_Mutation_p.Q91*|LETMD1_uc001rxo.2_RNA|LETMD1_uc001rxp.2_Nonsense_Mutation_p.Q131*|LETMD1_uc001rxq.2_Intron|LETMD1_uc001rxr.2_Intron|LETMD1_uc001rxt.2_Intron	NM_015416	NP_056231	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1 isoform 1	248	Mitochondrial intermembrane (Potential).|LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)	2						GGGCATGAACCAACTCCAGGC	0.468													T	51450008	C	T	51450008	4	4	49	1	0	0	0	0	0	1	0	0	8736	595	21	4	764	4	LETMD1	12	51450008	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	951557	51450008	82401887	1012	39893											
CSRNP2	81566	broad.mit.edu	37	chr12	51461489	51461489	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcctggctgcaggcacaCgcttctgggtcacaatacag	11	14	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:51461489C>T	uc001rxu.1	-	4	973	c.675G>A	c.(673-675)GCG>GCA	p.A225A		NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	TGF-beta induced apoptosis protein 12	225	Cys-rich.				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						TGCAGGCACACGCTTCTGGGT	0.547													T	51461489	C	T	51461489	2	4	49	1	0	0	0	0	0	0	0	1	3964	523	19	1		1	CSRNP2	12	51461489	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	11481	51461489	82390406	1013	39894											
CSRNP2	81566	broad.mit.edu	37	chr12	51470194	51470194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacggagcagcttactcacGtgtgaagctggcagtggtag	16	8	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:51470194G>A	uc001rxu.1	-	2	449	c.151C>T	c.(151-153)CCC>TCC	p.P51S		NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	TGF-beta induced apoptosis protein 12	51					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						GCTTACTCACGTGTGAAGCTG	0.552													A	51470194	G	A	51470194	3	1	49	1	0	0	0	0	1	0	0	0	3964	1159	40	1	1496	1	CSRNP2	12	51470194	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	8705	51470194	82381701	1014	39895											
DAZAP2	9802	broad.mit.edu	37	chr12	51634184	51634184	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgggaatccagtataccCtcagaccttgcatcttcctc	6	15	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:51634184C>A	uc010snd.1	+	2	255	c.71C>A	c.(70-72)CCT>CAT	p.P24H	DAZAP2_uc001ryb.2_Missense_Mutation_p.P24H|DAZAP2_uc010snc.1_Missense_Mutation_p.P24H|DAZAP2_uc010sne.1_Missense_Mutation_p.P24H|DAZAP2_uc010snf.1_Missense_Mutation_p.P24H	NM_001136266	NP_001129738	Q15038	DAZP2_HUMAN	DAZ associated protein 2 isoform c	24	Pro-rich.						WW domain binding				0						CCAGTATACCCTCAGACCTTG	0.498													A	51634184	C	A	51634184	3	1	49	1	0	0	0	0	1	0	0	0	4245	681	24	5	77	5	DAZAP2	12	51634184	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	163990	51634184	82217711	1015	39896											
ACVR1B	91	broad.mit.edu	37	chr12	52377793	52377793	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctctgcagataatggcacCtggacacagctgtggcttgt	11	10	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:52377793C>A	uc001rzn.2	+	5	864	c.822C>A	c.(820-822)ACC>ACA	p.T274T	ACVR1B_uc001rzl.2_Silent_p.T274T|ACVR1B_uc001rzm.2_Silent_p.T274T|ACVR1B_uc010snn.1_Silent_p.T315T	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	274	Protein kinase.|Cytoplasmic (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	ATAATGGCACCTGGACACAGC	0.443													A	52377793	C	A	52377793	2	1	49	1	0	0	0	0	0	0	0	1	221	668	24	5		5	ACVR1B	12	52377793	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	743609	52377793	81474102	1016	39897											
KRT80	144501	broad.mit.edu	37	chr12	52567501	52567501	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggcagcggctgtccatgccGacggtcaccgacacatcctt	11	15	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:52567501G>A	uc001rzx.2	-	5	812	c.714C>T	c.(712-714)GTC>GTT	p.V238V	KRT80_uc001rzw.2_Silent_p.V273V|KRT80_uc001rzy.2_Silent_p.V238V	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	keratin 80 isoform a	238	Linker 12.|Rod.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.108)		TGTCCATGCCGACGGTCACCG	0.672													A	52567501	G	A	52567501	2	1	49	1	0	0	0	0	0	0	0	1	8494	1045	37	1		1	KRT80	12	52567501	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	189708	52567501	81284394	1017	39898											
KRT6C	286887	broad.mit.edu	37	chr12	52867410	52867410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcccctggagcgggacaCggagatgctgctgaagccag	15	12	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:52867410C>T	uc001sal.3	-	1	160	c.112G>A	c.(112-114)GTG>ATG	p.V38M		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	38	Head.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GAGCGGGACACGGAGATGCTG	0.657													T	52867410	C	T	52867410	3	4	49	1	0	0	0	0	1	0	0	0	8482	536	19	1	1618	1	KRT6C	12	52867410	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	299909	52867410	80984485	1018	39899											
KRT79	338785	broad.mit.edu	37	chr12	53217775	53217775	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttgtccccatgcttcccagCagtcacctgcagctcctcat	7	17	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:53217775C>G	uc001sbb.2	-	6	1075	c.1042G>C	c.(1042-1044)GCT>CCT	p.A348P	KRT79_uc001sba.2_Missense_Mutation_p.A119P	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	348	Rod.|Coil 2.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4						TGCTTCCCAGCAGTCACCTGC	0.597													G	53217775	C	G	53217775	3	3	49	1	0	0	0	0	1	0	0	0	8492	710	25	5	581	5	KRT79	12	53217775	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	350365	53217775	80634120	1019	39900											
TENC1	23371	broad.mit.edu	37	chr12	53457555	53457555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttcgtggccaagaagccGggaagcccctgggagaatgt	16	9	0	2	rs148970226		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:53457555G>A	uc001sbp.2	+	29	4254	c.4119G>A	c.(4117-4119)CCG>CCA	p.P1373P	TENC1_uc001sbl.2_Silent_p.P1249P|TENC1_uc001sbn.2_Silent_p.P1383P|TENC1_uc001sbq.2_Silent_p.P771P|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Silent_p.P866P|TENC1_uc001sbs.2_Silent_p.P192P	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	1373					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2						CCAAGAAGCCGGGAAGCCCCT	0.547													A	53457555	G	A	53457555	2	1	49	1	0	0	0	0	0	0	0	1	15755	1103	39	1		1	TENC1	12	53457555	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	239780	53457555	80394340	1020	39901											
SOAT2	8435	broad.mit.edu	37	chr12	53517580	53517580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtgctgatgtggaccatgCtgtttctaggccagggaatc	13	9	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:53517580C>T	uc001sbv.2	+	14	1529	c.1441C>T	c.(1441-1443)CTG>TTG	p.L481L	SOAT2_uc009zms.2_RNA	NM_003578	NP_003569	O75908	SOAT2_HUMAN	acyl-CoA:cholesterol acyltransferase 2	481	Helical; (Potential).				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			ovary(1)	1						GTGGACCATGCTGTTTCTAGG	0.577													T	53517580	C	T	53517580	2	4	49	1	0	0	0	0	0	0	0	1	14911	796	28	2		2	SOAT2	12	53517580	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	60025	53517580	80334315	1021	39902											
ESPL1	9700	broad.mit.edu	37	chr12	53686104	53686104	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaggggtggatccacgaAgtaccttctatgtcctgaac	11	10	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:53686104A>C	uc001sck.2	+	28	5930	c.5839A>C	c.(5839-5841)AGT>CGT	p.S1947R	ESPL1_uc001scj.2_Missense_Mutation_p.S1622R	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1947					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						GGATCCACGAAGTACCTTCTA	0.532													C	53686104	A	C	53686104	3	2	49	1	0	0	0	0	1	0	0	0	5253	72	3	5	5945	5	ESPL1	12	53686104	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	168524	53686104	80165791	1022	39903											
AMHR2	269	broad.mit.edu	37	chr12	53819645	53819646	+	Frame_Shift_Ins	INS	-	-	G													cgatttatcactgccagccgINSggggggtcctggccgcctgc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:53819644_53819645C>CG	uc001scx.2	+	5	873_874	c.793_794C>CG	c.(793-795)cggfs	p.R265fs	AMHR2_uc009zmy.2_Frame_Shift_Ins_p.R265fs|AMHR2_uc021qyg.1_Frame_Shift_Ins_p.R265fs	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	265	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	p.R265W(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CACTGCCAGCCGGGGGGGTCCT	0.579													G	53819646	-	G	53819645	7	5	49	1	0	1	1	0	0	0	0	0	573	1116	39	0	816	0	AMHR2	12	53819645	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	133541	53819645	80032250	1023	39904											
HNRNPA1	3178	broad.mit.edu	37	chr12	54676031	54676031	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgaggcagtggcaagaaaaGgggctttgcctttgtaacct	13	9	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:54676031G>T	uc001sfl.2	+	4	541	c.437G>T	c.(436-438)AGG>ATG	p.R146M	CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.R146M|HNRNPA1_uc009zng.2_Missense_Mutation_p.R146M|HNRNPA1_uc009znh.2_Missense_Mutation_p.R146M|HNRNPA1_uc009zni.2_Missense_Mutation_p.R146M|HNRNPA1_uc001sfn.2_Missense_Mutation_p.R146M|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_Missense_Mutation_p.R101M|HNRNPA1_uc009znj.1_Missense_Mutation_p.R101M	NM_031157	NP_112420	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	146	Globular B domain.|RRM 2.			R -> K (in Ref. 2; CAA29922).	interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			skin(2)|ovary(1)	3						GGCAAGAAAAGGGGCTTTGCC	0.398													T	54676031	G	T	54676031	3	4	49	1	0	0	0	0	1	0	0	0	7257	1000	35	5	451	5	HNRNPA1	12	54676031	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	856386	54676031	79175864	1024	39905											
NCKAP1L	3071	broad.mit.edu	37	chr12	54930016	54930016	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccttcttccttttatagCattgagaaggatggtaagta	9	7	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:54930016C>T	uc001sgc.3	+	28	3139	c.3060C>T	c.(3058-3060)AGC>AGT	p.S1020S	NCKAP1L_uc010sox.1_Silent_p.S562S|NCKAP1L_uc010soy.1_Silent_p.S970S	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1020					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						CCTTTTATAGCATTGAGAAGG	0.468													T	54930016	C	T	54930016	2	4	49	1	0	0	0	0	0	0	0	1	10222	709	25	2		2	NCKAP1L	12	54930016	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	253985	54930016	78921879	1025	39906											
SUOX	6821	broad.mit.edu	37	chr12	56397718	56397718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatgctgatgatcctgtacGtcacccagccctgaaggtca	9	12	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:56397718G>A	uc001six.2	+	6	871	c.545G>A	c.(544-546)CGT>CAT	p.R182H	SUOX_uc001siy.2_Missense_Mutation_p.R182H|SUOX_uc001siz.2_Missense_Mutation_p.R182H|SUOX_uc001sja.2_Missense_Mutation_p.R182H	NM_000456	NP_000447	P51687	SUOX_HUMAN	sulfite oxidase precursor	182	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GATCCTGTACGTCACCCAGCC	0.542													A	56397718	G	A	56397718	3	1	49	1	0	0	0	0	1	0	0	0	15392	1145	40	1	555	1	SUOX	12	56397718	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1467702	56397718	77454177	1026	39907											
SMARCC2	6601	broad.mit.edu	37	chr12	56579984	56579984	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcagctgcaagaatgtggCacaaggagcctcccgctttg	13	11	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:56579984C>A	uc001skb.2	-	3	378	c.272G>T	c.(271-273)TGC>TTC	p.C91F	SMARCC2_uc001skd.2_Missense_Mutation_p.C91F|SMARCC2_uc001ska.2_Missense_Mutation_p.C91F|SMARCC2_uc001skc.2_Missense_Mutation_p.C91F|SMARCC2_uc010sqf.1_5'UTR	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	91					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AAGAATGTGGCACAAGGAGCC	0.398													A	56579984	C	A	56579984	3	1	49	1	0	0	0	0	1	0	0	0	14776	710	25	5	3573	5	SMARCC2	12	56579984	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	182266	56579984	77271911	1027	39908											
CS	1431	broad.mit.edu	37	chr12	56669893	56669893	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcaatggccccaataccGctgccttctctgtagagatt	9	12	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:56669893G>A	uc001sks.1	-	7	865	c.675C>T	c.(673-675)AGC>AGT	p.S225S	CS_uc010sql.1_Silent_p.S212S|CS_uc001skr.1_Silent_p.S159S|CS_uc001skt.1_Silent_p.S180S|CS_uc010sqm.1_Silent_p.S159S	NM_004077	NP_004068	O75390	CISY_HUMAN	citrate synthase precursor	225					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity				0		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CCCCAATACCGCTGCCTTCTC	0.458													A	56669893	G	A	56669893	2	1	49	1	0	0	0	0	0	0	0	1	3924	1078	38	1		1	CS	12	56669893	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	89909	56669893	77182002	1028	39909											
PAN2	9924	broad.mit.edu	37	chr12	56716264	56716264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccactgctggtgagtaacGccctatggaaatacaaagaa	9	9	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:56716264G>A	uc001skx.2	-	19	3025	c.2652C>T	c.(2650-2652)GGC>GGT	p.G884G	PAN2_uc001skw.2_Silent_p.G32G|PAN2_uc001skz.2_Silent_p.G883G|PAN2_uc001sky.2_Silent_p.G880G	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	884					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						GGTGAGTAACGCCCTATGGAA	0.433													A	56716264	G	A	56716264	2	1	49	1	0	0	0	0	0	0	0	1	11414	1074	38	1		1	PAN2	12	56716264	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	46371	56716264	77135631	1029	39910											
PAN2	9924	broad.mit.edu	37	chr12	56718366	56718366	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgtctccaagtactgaccTggcaagggtcaccacgagag	12	11	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:56718366T>C	uc001skx.2	-	11	2100	c.1727A>G	c.(1726-1728)CAG>CGG	p.Q576R	PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.Q576R|PAN2_uc001sky.2_Missense_Mutation_p.Q576R	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	576					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						AGTACTGACCTGGCAAGGGTC	0.463													C	56718366	T	C	56718366	3	2	49	1	0	0	0	0	1	0	0	0	11414	1594	55	3	1945	3	PAN2	12	56718366	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	2102	56718366	77133529	1030	39911											
NACA	4666	broad.mit.edu	37	chr12	57107321	57107321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaagaaaagtttactcacCttggcttccccaaaaactat	4	13	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:57107321C>T	uc001slz.2	-	5	730	c.381G>A	c.(379-381)AAG>AAA	p.K127K	NACA_uc001sly.2_Silent_p.K127K|NACA_uc009zoy.1_Silent_p.K1990K|NACA_uc001smc.2_Silent_p.K127K|NACA_uc001sma.2_Silent_p.K837K|NACA_uc001smb.2_Silent_p.K127K|NACA_uc010squ.1_RNA	NM_001113201	NP_001106672	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha	127	NAC-A/B.				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			ovary(1)	1						GTTTACTCACCTTGGCTTCCC	0.274			T	BCL6	NHL								T	57107321	C	T	57107321	2	4	49	1	0	0	0	0	0	0	0	1	10133	695	24	4		4	NACA	12	57107321	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	388955	57107321	76744574	1031	39912											
KIF5A	3798	broad.mit.edu	37	chr12	57963455	57963455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggaggctgagctgagccGgtggcgcaatggttagagag	19	7	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:57963455G>A	uc001sor.1	+	11	1314	c.1106G>A	c.(1105-1107)CGG>CAG	p.R369Q	KIF5A_uc010srr.1_Missense_Mutation_p.R280Q	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	369					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3						GAGCTGAGCCGGTGGCGCAAT	0.438													A	57963455	G	A	57963455	3	1	49	1	0	0	0	0	1	0	0	0	8305	1116	39	1	1148	1	KIF5A	12	57963455	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	856134	57963455	75888440	1032	39913											
MARCH9	92979	broad.mit.edu	37	chr12	58152041	58152041	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacaggatctgctctttcagAtctgctacggcatgtatggc	11	10	4	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:58152041A>T	uc001spx.1	+	3	1076	c.664A>T	c.(664-666)ATC>TTC	p.I222F	MARCH9_uc001spy.2_Missense_Mutation_p.I109F	NM_138396	NP_612405	Q86YJ5	MARH9_HUMAN	membrane-associated RING-CH protein IX	222	Helical; (Potential).					Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding				0	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GCTCTTTCAGATCTGCTACGG	0.532													T	58152041	A	T	58152041	3	4	49	1	0	0	0	0	1	0	0	0	9308	333	12	5	674	5	MARCH9	12	58152041	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	188586	58152041	75699854	1033	39914											
LEMD3	23592	broad.mit.edu	37	chr12	65564751	65564751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttctccagcaatttaaaCgggaggaggtgtccccaaca	9	11	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:65564751C>T	uc001ssl.1	+	1	1381	c.1375C>T	c.(1375-1377)CGG>TGG	p.R459W	LEMD3_uc009zqo.1_Missense_Mutation_p.R459W	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	459					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			central_nervous_system(3)|ovary(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GCAATTTAAACGGGAGGAGGT	0.463													T	65564751	C	T	65564751	3	4	49	1	0	0	0	0	1	0	0	0	8721	527	19	1	1377	1	LEMD3	12	65564751	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	7412710	65564751	68287144	1034	39915											
HELB	92797	broad.mit.edu	37	chr12	66696454	66696454	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccagggatctggtggaggAggacgacgactacctaaacg	14	10	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:66696454A>G	uc001sti.2	+	1	99	c.71A>G	c.(70-72)GAG>GGG	p.E24G	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	24					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CTGGTGGAGGAGGACGACGAC	0.602													G	66696454	A	G	66696454	3	3	49	1	0	0	0	0	1	0	0	0	7045	304	11	3	73	3	HELB	12	66696454	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1131703	66696454	67155441	1035	39916											
GLIPR1	11010	broad.mit.edu	37	chr12	75884201	75884201	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggttgtttgggcagatAgttacaaagttggctgcgca	13	6	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:75884201A>G	uc001sxs.2	+	3	584	c.436A>G	c.(436-438)AGT>GGT	p.S146G	GLIPR1_uc009zsb.1_Missense_Mutation_p.I169M	NM_006851	NP_006842	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1 precursor	146					cellular lipid metabolic process	extracellular region|integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3						TTGGGCAGATAGTTACAAAGT	0.388													G	75884201	A	G	75884201	3	3	49	1	0	0	0	0	1	0	0	0	6441	420	15	3	446	3	GLIPR1	12	75884201	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	9187747	75884201	57967694	1036	39917											
MYF5	4617	broad.mit.edu	37	chr12	81111208	81111208	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagaggctgcccaaggtggaGatcctcaggaatgccatccg	13	12	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:81111208G>A	uc001szg.2	+	1	501	c.366G>A	c.(364-366)GAG>GAA	p.E122E		NM_005593	NP_005584	P13349	MYF5_HUMAN	myogenic factor 5	122	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						CCAAGGTGGAGATCCTCAGGA	0.592													A	81111208	G	A	81111208	2	1	49	1	0	0	0	0	0	0	0	1	10027	933	33	4		4	MYF5	12	81111208	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	5227007	81111208	52740687	1037	39918											
PPFIA2	8499	broad.mit.edu	37	chr12	81741514	81741514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattttcaatttcttcagcaCgcaactctgtagattctttt	4	9	5	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:81741514C>T	uc001szo.1	-	18	2191	c.2030G>A	c.(2029-2031)CGT>CAT	p.R677H	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	603										ovary(3)|lung(2)|pancreas(1)	6						TTCTTCAGCACGCAACTCTGT	0.398													T	81741514	C	T	81741514	3	4	49	1	0	0	0	0	1	0	0	0	12310	536	19	1	1803	1	PPFIA2	12	81741514	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	630306	81741514	52110381	1038	39919											
EEA1	8411	broad.mit.edu	37	chr12	93192691	93192691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaaaacagcaattttaaGctctccttggagtgcttcaa	7	9	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:93192691G>A	uc001tck.2	-	21	3209	c.2944C>T	c.(2944-2946)CTT>TTT	p.L982F		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	982	Gln/Glu/Lys-rich.|Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						GCAATTTTAAGCTCTCCTTGG	0.303													A	93192691	G	A	93192691	3	1	49	1	0	0	0	0	1	0	0	0	4921	971	34	2	1327	2	EEA1	12	93192691	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	11451177	93192691	40659204	1039	39920											
CCDC41	51134	broad.mit.edu	37	chr12	94806263	94806263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcggtaaatgtgctgacaaCcatgtaaaaataagttttgg	9	5	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:94806263C>T	uc001tdd.2	-	3	590	c.4G>A	c.(4-6)GTT>ATT	p.V2I	CCDC41_uc001tde.2_Missense_Mutation_p.V2I|CCDC41_uc009zsw.1_Intron|CCDC41_uc001tdf.2_Missense_Mutation_p.V2I	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	NY-REN-58 antigen	Error:Variant_position_missing_in_Q9Y592_after_alignment											0						GTGCTGACAACCATGTAAAAA	0.398													T	94806263	C	T	94806263	3	4	49	1	0	0	0	0	1	0	0	0	2813	507	18	4	2161	4	CCDC41	12	94806263	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1613572	94806263	39045632	1040	39921											
FGD6	55785	broad.mit.edu	37	chr12	95604120	95604120	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttctgggcttgggagTtggaaattttggggtatatg	15	3	2	0	rs74379313		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:95604120T>C	uc001tdp.3	-	2	1164	c.940A>G	c.(940-942)ACT>GCT	p.T314A	FGD6_uc009zsx.2_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	314					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|breast(1)	3						GGCTTGGGAGTTGGAAATTTT	0.413													C	95604120	T	C	95604120	3	2	49	1	0	0	0	0	1	0	0	0	5837	1725	60	3	3432	3	FGD6	12	95604120	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	797857	95604120	38247775	1041	39922											
CCDC38	120935	broad.mit.edu	37	chr12	96260859	96260860	+	Frame_Shift_Ins	INS	-	-	A													cttactgcttttattcaagtINSaaaaaaatattcttcctctt							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:96260859_96260860insA	uc001tek.1	-	16	1920_1921	c.1686_1687insT	c.(1684-1689)TTTACTfs	p.F562fs		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	562_563										skin(1)	1						TTTATTCAAGTAAAAAAATATT	0.287													A	96260860	-	A	96260859	7	5	49	1	0	1	1	0	0	0	0	0	2810	1638	57	0	8	0	CCDC38	12	96260859	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	656739	96260859	37591036	1042	39923	133	2									
CCDC38	120935	broad.mit.edu	37	chr12	96260860	96260861	+	Frame_Shift_Ins	INS	-	-	A													ttactgcttttattcaagtaINSaaaaaatattcttcctcttg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:96260859_96260860T>TA	uc001tek.2	-	15	1920_1921	c.1686_1687A>TA	c.(1684-1689)tttactfs	p.F562fs		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.	562										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTATTCAAGTAAAAAAATATT	0.287													A	96260861	-	A	96260860	7	5	49	1	0	1	1	0	0	0	0	0	2810	359	13	0	9	0	CCDC38	12	96260860	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	1	96260860	37591035	1043	39924	133	2									
C12orf63	374467	broad.mit.edu	37	chr12	97043775	97043775	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatcaggttctagtgctaaAgaaaaggaccgaggagcaaa	11	7	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:97043775A>C	uc001tet.1	+	2	150	c.72A>C	c.(70-72)AAA>AAC	p.K24N		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	24										skin(6)|ovary(1)	7						CTAGTGCTAAAGAAAAGGACC	0.333													C	97043775	A	C	97043775	3	2	49	1	0	0	0	0	1	0	0	0	1706	69	3	5	74	5	C12orf63	12	97043775	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	782915	97043775	36808120	1044	39925											
FAM71C	196472	broad.mit.edu	37	chr12	100042354	100042355	+	Frame_Shift_Ins	INS	-	-	A													taaccatccacaacagcgtaINSaaaaaacagctccacctgaa							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:100042353_100042354T>TA	uc001tgn.3	+	0	826_827	c.401_402T>TA	c.(400-402)gtafs	p.V134fs	ANKS1B_uc001tge.2_Intron|ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Intron	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN	Homo sapiens family with sequence similarity 71, member C (FAM71C), mRNA.	134										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CACAACAGCGTAAAAAAACAGC	0.48													A	100042355	-	A	100042354	7	5	49	1	0	1	1	0	0	0	0	0	5609	349	13	0	404	0	FAM71C	12	100042354	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	2998579	100042354	33809541	1045	39926											
SLC5A8	160728	broad.mit.edu	37	chr12	101555808	101555808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaccaaagttccaacagtgCtgaagtacagatatgataaa	7	7	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:101555808C>T	uc001thz.3	-	13	1964	c.1574G>A	c.(1573-1575)AGC>AAC	p.S525N		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	525	Helical; (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						TCCAACAGTGCTGAAGTACAG	0.348													T	101555808	C	T	101555808	3	4	49	1	0	0	0	0	1	0	0	0	14671	797	28	2	270	2	SLC5A8	12	101555808	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1513454	101555808	32296087	1046	39927											
SART3	9733	broad.mit.edu	37	chr12	108918245	108918245	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttcatcacagcctgcgaCgcctgggattcattttcata	7	12	5	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:108918245C>T	uc001tmz.1	-	18	2797	c.2562G>A	c.(2560-2562)GCG>GCA	p.A854A	SART3_uc001tmy.1_Silent_p.A380A|SART3_uc009zux.1_Silent_p.A466A|SART3_uc010swx.1_Silent_p.A818A	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	854	RRM 2.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						CAGCCTGCGACGCCTGGGATT	0.532									Porokeratosis				T	108918245	C	T	108918245	2	4	49	1	0	0	0	0	0	0	0	1	13847	523	19	1		1	SART3	12	108918245	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	7362437	108918245	24933650	1047	39928											
MVK	4598	broad.mit.edu	37	chr12	110019240	110019240	+	Frame_Shift_Del	DEL	C	C	-													tcgtagtgtggtcggagctgCcccccggggcgggcttgggc					rs104895373		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:110019239_110019239GC>G	uc001toy.4	+	4	595	c.411_411GC>G	c.(409-411)ctgfs	p.L137fs	MVK_uc009zvk.3_Frame_Shift_Del_p.L137fs|MVK_uc010sxr.2_Intron|MVK_uc001toz.4_Intron|MVK_uc021rdo.1_Frame_Shift_Del_p.L137fs|MVK_uc001tpc.4_Non-coding_Transcript	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA.	137					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GGTCGGAGCTGCCCCCCGGGG	0.662													-	110019240	C	-	110019240	7	5	49	1	0	1	0	1	0	0	0	0	9995	739	26	0	426	0	MVK	12	110019240	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	1100995	110019240	23832655	1048	39929											
TRPV4	59341	broad.mit.edu	37	chr12	110238437	110238438	+	Frame_Shift_Ins	INS	-	-	C													cttaccaaagtagaagtagcINSccccctcatccttgggctgg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:110238436_110238437G>GC	uc001tpj.2	-	3	934_935	c.839_840C>GC	c.(838-840)ggcfs	p.G280fs	TRPV4_uc001tpg.2_Frame_Shift_Ins_p.G246fs|TRPV4_uc021rdp.1_Frame_Shift_Ins_p.G280fs|TRPV4_uc001tph.2_Intron|TRPV4_uc001tpi.2_Intron|TRPV4_uc001tpk.2_Frame_Shift_Ins_p.G280fs	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	280					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGTAGAAGTAGCCCCCCTCATC	0.609													C	110238438	-	C	110238437	7	5	49	1	0	1	1	0	0	0	0	0	16595	739	26	0	1824	0	TRPV4	12	110238437	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	219197	110238437	23613458	1049	39930											
CUX2	23316	broad.mit.edu	37	chr12	111652089	111652089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatttaattgaactccgccGggaatttaagaaaaatgtac	7	7	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:111652089G>A	uc001tsa.1	+	2	302	c.149G>A	c.(148-150)CGG>CAG	p.R50Q	CUX2_uc001tsb.1_Missense_Mutation_p.R105Q	NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	50						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						GAACTCCGCCGGGAATTTAAG	0.378													A	111652089	G	A	111652089	3	1	49	1	0	0	0	0	1	0	0	0	4065	1116	39	1	155	1	CUX2	12	111652089	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1413652	111652089	22199806	1050	39931											
C12orf51	283450	broad.mit.edu	37	chr12	112711506	112711506	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaagtctctggcagacaTaatggaaggcttgattccca	9	11	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:112711506T>G	uc009zwc.2	-	4	617	c.599A>C	c.(598-600)TAT>TCT	p.Y200S	C12orf51_uc010syk.1_Missense_Mutation_p.Y23S|C12orf51_uc001tts.2_Missense_Mutation_p.Y23S|C12orf51_uc001ttt.3_Missense_Mutation_p.Y23S	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CTGGCAGACATAATGGAAGGC	0.453													G	112711506	T	G	112711506	3	3	49	1	0	0	0	0	1	0	0	0	1696	1406	49	5	11655	5	C12orf51	12	112711506	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1059417	112711506	21140389	1051	39932											
RASAL1	8437	broad.mit.edu	37	chr12	113553825	113553825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgcggtcctcaatcaggcGtaccttcactcgcagggcac	11	15	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:113553825G>A	uc001tum.1	-	10	1056	c.763C>T	c.(763-765)CGC>TGC	p.R255C	RASAL1_uc010syp.1_Missense_Mutation_p.R255C|RASAL1_uc001tul.2_Missense_Mutation_p.R255C|RASAL1_uc001tun.1_Missense_Mutation_p.R255C|RASAL1_uc010syq.1_Missense_Mutation_p.R255C|RASAL1_uc001tuo.3_Missense_Mutation_p.R255C|RASAL1_uc010syr.1_Missense_Mutation_p.R255C	NM_004658	NP_004649	O95294	RASL1_HUMAN	RAS protein activator like 1	255					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			ovary(2)|skin(2)	4						TCAATCAGGCGTACCTTCACT	0.493													A	113553825	G	A	113553825	3	1	49	1	0	0	0	0	1	0	0	0	13063	1145	40	1	1703	1	RASAL1	12	113553825	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	842319	113553825	20298070	1052	39933											
LHX5	64211	broad.mit.edu	37	chr12	113907132	113907132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccttgcgcgcagccggcGcatttcgtgccaaagcgcct	12	15	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:113907132G>A	uc001tvj.1	-	2	766	c.192C>T	c.(190-192)TGC>TGT	p.C64C		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	64	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CGCAGCCGGCGCATTTCGTGC	0.617													A	113907132	G	A	113907132	2	1	49	1	0	0	0	0	0	0	0	1	8774	1079	38	1		1	LHX5	12	113907132	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	353307	113907132	19944763	1053	39934											
FBXW8	26259	broad.mit.edu	37	chr12	117365934	117365934	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actaggaagatgtgcacaggTaaggtgtcaccaacagatgt	12	7	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:117365934T>C	uc001twg.1	+	2	505	c.423_splice	c.e2+2	p.Q141_splice	FBXW8_uc001twf.1_Splice_Site_p.Q75_splice|FBXW8_uc009zwp.1_Splice_Site	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8 isoform								protein binding			ovary(2)|pancreas(1)	3	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		TGTGCACAGGTAAGGTGTCAC	0.373													C	117365934	T	C	117365934	5	2	49	1	0	0	0	0	0	0	1	0	5770	1652	57	3	431	3	FBXW8	12	117365934	Splice_Site	SNP	T	TCGA-BR-7707-01A-11D-2053-08	3458802	117365934	16485961	1054	39935											
SRRM4	84530	broad.mit.edu	37	chr12	119563220	119563220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgaaagtctcaccgccacCgccatcaccgctgcccctcg	7	22	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:119563220C>T	uc001txa.1	+	7	842	c.550C>T	c.(550-552)CGC>TGC	p.R184C		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	184	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						TCACCGCCACCGCCATCACCG	0.478													T	119563220	C	T	119563220	3	4	49	1	0	0	0	0	1	0	0	0	15170	652	23	1	576	1	SRRM4	12	119563220	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2197286	119563220	14288675	1055	39936											
HSPB8	26353	broad.mit.edu	37	chr12	119617314	119617314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggccaggcaccctaaggtCgggcatggtgccccggggcc	16	15	0	0	rs140173724		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:119617314C>T	uc001txb.2	+	1	720	c.197C>T	c.(196-198)TCG>TTG	p.S66L	HSPB8_uc001txc.2_Missense_Mutation_p.S66L	NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	66					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCCTAAGGTCGGGCATGGTG	0.687													T	119617314	C	T	119617314	3	4	49	1	0	0	0	0	1	0	0	0	7423	893	31	1	199	1	HSPB8	12	119617314	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	54094	119617314	14234581	1056	39937											
GCN1L1	10985	broad.mit.edu	37	chr12	120569133	120569133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccagtcaatgccggacacGtccgctgggtggaaggacac	13	12	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:120569133G>A	uc001txo.2	-	55	7432	c.7419C>T	c.(7417-7419)GAC>GAT	p.D2473D		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2473					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCCGGACACGTCCGCTGGGT	0.612													A	120569133	G	A	120569133	2	1	49	1	0	0	0	0	0	0	0	1	6299	1136	40	1		1	GCN1L1	12	120569133	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	951819	120569133	13282762	1057	39938											
GCN1L1	10985	broad.mit.edu	37	chr12	120597681	120597681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccaaggacaagaagggGttcttgatcctgggagcagc	15	9	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:120597681G>A	uc001txo.2	-	24	2710	c.2697C>T	c.(2695-2697)AAC>AAT	p.N899N		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	899					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACAAGAAGGGGTTCTTGATCC	0.587													A	120597681	G	A	120597681	2	1	49	1	0	0	0	0	0	0	0	1	6299	1252	44	4		4	GCN1L1	12	120597681	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	28548	120597681	13254214	1058	39939											
GCN1L1	10985	broad.mit.edu	37	chr12	120615500	120615500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcaccaacaggtacttcGgaggcttgactttgctcatc	9	13	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:120615500G>A	uc001txo.2	-	8	729	c.716C>T	c.(715-717)CCG>CTG	p.P239L		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	239					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGTACTTCGGAGGCTTGAC	0.463													A	120615500	G	A	120615500	3	1	49	1	0	0	0	0	1	0	0	0	6299	1116	39	1	7503	1	GCN1L1	12	120615500	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	17819	120615500	13236395	1059	39940											
CAMKK2	10645	broad.mit.edu	37	chr12	121678602	121678602	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacgcagggactgcctctcAcaagagcacttcctcctccc	7	19	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:121678602A>G	uc001tzu.2	-	17	1791	c.1667T>C	c.(1666-1668)GTG>GCG	p.V556A	CAMKK2_uc001tzt.2_Nonstop_Mutation_p.*542R|CAMKK2_uc001tzv.2_Missense_Mutation_p.V556A|CAMKK2_uc001tzw.2_Missense_Mutation_p.V513A|CAMKK2_uc001tzx.2_Nonstop_Mutation_p.*542R|CAMKK2_uc001tzy.2_Nonstop_Mutation_p.*499R|CAMKK2_uc001tzz.1_Intron|CAMKK2_uc001uaa.1_Intron	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase	556					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			lung(1)|large_intestine(1)|stomach(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACTGCCTCTCACAAGAGCACT	0.657													G	121678602	A	G	121678602	3	3	49	1	0	0	0	0	1	0	0	0	2607	172	6	3	103	3	CAMKK2	12	121678602	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1063102	121678602	12173293	1060	39941											
KDM2B	84678	broad.mit.edu	37	chr12	122018691	122018691	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacccctcccccaacattacCtgtgtggccgactcaaattc	5	18	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:122018691C>A	uc001uat.2	-	1	230	c.126G>T	c.(124-126)CAG>CAT	p.Q42H	KDM2B_uc001uas.2_5'Flank|KDM2B_uc001uau.2_5'UTR|KDM2B_uc001uav.3_Missense_Mutation_p.Q42H	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	42					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						CCAACATTACCTGTGTGGCCG	0.507													A	122018691	C	A	122018691	3	1	49	1	0	0	0	0	1	0	0	0	8125	695	24	5	4065	5	KDM2B	12	122018691	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	340089	122018691	11833204	1061	39942											
LRRC43	254050	broad.mit.edu	37	chr12	122684777	122684777	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacaagccctgggctgaggTcatcccctgcagttacgaga	11	14	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:122684777T>G	uc009zxm.2	+	8	1416	c.1391T>G	c.(1390-1392)GTC>GGC	p.V464G	LRRC43_uc001ubw.3_Missense_Mutation_p.V279G|LRRC43_uc009zxn.2_Missense_Mutation_p.V225G	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	464											0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGGGCTGAGGTCATCCCCTGC	0.647													G	122684777	T	G	122684777	3	3	49	1	0	0	0	0	1	0	0	0	9001	1667	58	5	1421	5	LRRC43	12	122684777	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	666086	122684777	11167118	1062	39943											
PITPNM2	57605	broad.mit.edu	37	chr12	123471271	123471271	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcacagaaggacaccacGccatgggggaagttgtgctg	14	11	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:123471271G>A	uc001uej.1	-	23	3658	c.3519C>T	c.(3517-3519)GGC>GGT	p.G1173G	PITPNM2_uc001uek.1_Silent_p.G1167G	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	1173					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AGGACACCACGCCATGGGGGA	0.667													A	123471271	G	A	123471271	2	1	49	1	0	0	0	0	0	0	0	1	11951	1074	38	1		1	PITPNM2	12	123471271	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	786494	123471271	10380624	1063	39944											
CDK2AP1	8099	broad.mit.edu	37	chr12	123749783	123749783	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactcttgctccctgcgtaCgtgggtctgatctccttccc	9	16	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:123749783C>T	uc001ueq.2	-	3	762	c.240G>A	c.(238-240)ACG>ACA	p.T80T	CDK2AP1_uc001uep.2_RNA	NM_004642	NP_004633	O14519	CDKA1_HUMAN	CDK2-associated protein  1	80					DNA-dependent DNA replication|protein phosphorylation|S phase of mitotic cell cycle	cytoplasm|nucleus	DNA binding|protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000554)|Epithelial(86;0.00178)		TCCCTGCGTACGTGGGTCTGA	0.582													T	123749783	C	T	123749783	2	4	49	1	0	0	0	0	0	0	0	1	3138	523	19	1		1	CDK2AP1	12	123749783	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	278512	123749783	10102112	1064	39945											
DNAH10	196385	broad.mit.edu	37	chr12	124270304	124270304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggtcagaacataacgcaCgggtctggcttccacgtggt	12	11	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:124270304C>T	uc001uft.3	+	9	1084	c.1059C>T	c.(1057-1059)CAC>CAT	p.H353H		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	353	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACATAACGCACGGGTCTGGCT	0.527													T	124270304	C	T	124270304	2	4	49	1	0	0	0	0	0	0	0	1	4598	535	19	1		1	DNAH10	12	124270304	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	520521	124270304	9581591	1065	39946											
CCDC92	80212	broad.mit.edu	37	chr12	124421800	124421801	+	Frame_Shift_Ins	INS	-	-	G													cgcttcggtcggaggcgatgINSggggggatgacgaggggcct					rs147939560		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:124421799_124421800T>TG	uc001ufw.1	-	4	948_949	c.801_802A>CA	c.(799-804)cccatcfs	p.P267fs	CCDC92_uc001ufv.1_Frame_Shift_Ins_p.P250fs|CCDC92_uc001ufx.1_Frame_Shift_Ins_p.P267fs	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA.	267										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TCGGAGGCGATGGGGGGGATGA	0.683													G	124421801	-	G	124421800	7	5	49	1	0	1	1	0	0	0	0	0	2871	1335	47	0	198	0	CCDC92	12	124421800	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	151496	124421800	9430095	1066	39947											
GPR133	283383	broad.mit.edu	37	chr12	131471729	131471729	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagcacctctgatccgAgtggaaaagtgtctcgtgac	11	12	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:131471729A>G	uc001uit.3	+	6	1139	c.580A>G	c.(580-582)AGT>GGT	p.S194G	GPR133_uc010tbm.1_Missense_Mutation_p.S226G	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	194	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CTCTGATCCGAGTGGAAAAGT	0.512													G	131471729	A	G	131471729	3	3	49	1	0	0	0	0	1	0	0	0	6643	304	11	3	602	3	GPR133	12	131471729	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	7049929	131471729	2380166	1067	39948											
MMP17	4326	broad.mit.edu	37	chr12	132325164	132325164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactggggcacgacacggtgCgtgcactcatgtactacgcc	12	14	1	0	rs146831311		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:132325164C>T	uc001ujc.1	+	4	568	c.469C>T	c.(469-471)CGT>TGT	p.R157C	MMP17_uc001ujd.1_Missense_Mutation_p.R73C	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	157					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CGACACGGTGCGTGCACTCAT	0.652													T	132325164	C	T	132325164	3	4	49	1	0	0	0	0	1	0	0	0	9656	768	27	1	483	1	MMP17	12	132325164	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	853435	132325164	1526731	1068	39949											
EFHA1	221154	broad.mit.edu	37	chr13	22084194	22084194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctctttttccaaagaaaCgcatctgaagagttgtgtta	8	8	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:22084194C>T	uc001uof.2	-	8	732	c.710G>A	c.(709-711)CGT>CAT	p.R237H	EFHA1_uc010tct.1_Missense_Mutation_p.R27H	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	EF-hand domain family, member A1	237	EF-hand 2.						calcium ion binding				0		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		TCCAAAGAAACGCATCTGAAG	0.229													T	22084194	C	T	22084194	3	4	49	1	0	0	0	0	1	0	0	0	4943	536	19	1	614	1	EFHA1	13	22084194	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08		22084194	93085684	1069	39950											
SACS	26278	broad.mit.edu	37	chr13	23905259	23905259	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagcactgtccctgctttgAgagctttcctcaggtcttga	11	11	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:23905259A>G	uc001uon.2	-	10	13345	c.12756T>C	c.(12754-12756)TCT>TCC	p.S4252S	SACS_uc001uoo.2_Silent_p.S4105S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4252					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.T4252S(1)		ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCCTGCTTTGAGAGCTTTCCT	0.433													G	23905259	A	G	23905259	2	3	49	1	0	0	0	0	0	0	0	1	13804	291	11	3		3	SACS	13	23905259	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1821065	23905259	91264619	1070	39951											
SACS	26278	broad.mit.edu	37	chr13	23928962	23928962	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggcaatctgcttccctgAgctctggaggtagttgagca	12	10	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:23928962A>C	uc001uon.2	-	8	2378	c.1789T>G	c.(1789-1791)TCA>GCA	p.S597A	SACS_uc001uoo.2_Missense_Mutation_p.S450A|SACS_uc001uop.1_Missense_Mutation_p.S384A|SACS_uc001uoq.1_Missense_Mutation_p.S450A	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	597					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGCTTCCCTGAGCTCTGGAGG	0.502													C	23928962	A	C	23928962	3	2	49	1	0	0	0	0	1	0	0	0	13804	304	11	5	11962	5	SACS	13	23928962	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	23703	23928962	91240916	1071	39952											
PARP4	143	broad.mit.edu	37	chr13	25067820	25067820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaaatcatctctactaaatCgctcacctcttggctcagag	5	14	5	1	rs113456081		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:25067820C>T	uc001upl.2	-	8	899	c.793G>A	c.(793-795)GAT>AAT	p.D265N	PARP4_uc010tdc.1_Missense_Mutation_p.D265N	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	265	PARP alpha-helical.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCTACTAAATCGCTCACCTCT	0.443													T	25067820	C	T	25067820	3	4	49	1	0	0	0	0	1	0	0	0	11463	884	31	1	4489	1	PARP4	13	25067820	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1138858	25067820	90102058	1072	39953											
WASF3	10810	broad.mit.edu	37	chr13	27257105	27257105	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgacctcctcgctgctattCgaatgggtaagtggagcccc	12	13	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:27257105C>T	uc001uqv.2	+	9	1570	c.1345C>T	c.(1345-1347)CGA>TGA	p.R449*	WASF3_uc001uqw.2_Nonsense_Mutation_p.R446*	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	449	WH2.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			pancreas(1)	1	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CGCTGCTATTCGAATGGGTAA	0.567													T	27257105	C	T	27257105	4	4	49	1	0	0	0	0	0	1	0	0	17251	876	31	1	1371	1	WASF3	13	27257105	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2189285	27257105	87912773	1073	39954											
NBEA	26960	broad.mit.edu	37	chr13	35733851	35733851	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagtacatcttggtgttagTgatgatcttggattgcttgc	11	6	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:35733851T>C	uc001uvb.2	+	23	3749	c.3543T>C	c.(3541-3543)AGT>AGC	p.S1181S	NBEA_uc010abi.2_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1181						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTGGTGTTAGTGATGATCTTG	0.358													C	35733851	T	C	35733851	2	2	49	1	0	0	0	0	0	0	0	1	10187	1693	59	3		3	NBEA	13	35733851	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	8476746	35733851	79436027	1074	39955											
MTRF1	9617	broad.mit.edu	37	chr13	41800599	41800599	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcactttgttgctgacgcTtgtctttctcaataatctgc	7	10	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:41800599T>G	uc001uxx.2	-	10	1564	c.1094A>C	c.(1093-1095)AAG>ACG	p.K365T	MTRF1_uc001uxy.2_Missense_Mutation_p.K365T|MTRF1_uc001uxz.2_Missense_Mutation_p.K201T|MTRF1_uc010tff.1_Missense_Mutation_p.K378T|uc001uxv.1_Intron	NM_004294	NP_004285	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	365					regulation of translational termination	mitochondrion	translation release factor activity, codon specific				0		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TTGCTGACGCTTGTCTTTCTC	0.348													G	41800599	T	G	41800599	3	3	49	1	0	0	0	0	1	0	0	0	9959	1609	56	5	255	5	MTRF1	13	41800599	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	6066748	41800599	73369279	1075	39956											
SLC25A30	253512	broad.mit.edu	37	chr13	45980093	45980093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccataggatgcctggcGtaacatcgcgggggcaatcc	15	11	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:45980093G>A	uc001vag.2	-	4	369	c.232C>T	c.(232-234)CGC>TGC	p.R78C	SLC25A30_uc010tfs.1_Missense_Mutation_p.R3C|SLC25A30_uc001vah.2_Missense_Mutation_p.R3C|SLC25A30_uc010tft.1_Missense_Mutation_p.R27C|SLC25A30_uc001vaf.2_5'Flank	NM_001010875	NP_001010875	Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	78	Helical; Name=2; (Potential).|Solcar 1.				mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		GATGCCTGGCGTAACATCGCG	0.478													A	45980093	G	A	45980093	3	1	49	1	0	0	0	0	1	0	0	0	14494	1145	40	1	671	1	SLC25A30	13	45980093	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4179494	45980093	69189785	1076	39957											
COG3	83548	broad.mit.edu	37	chr13	46083848	46083848	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaacagaatccctcaatcCtagaccacagaccacaattt	3	14	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:46083848C>A	uc001vak.2	+	15	1717	c.1616C>A	c.(1615-1617)CCT>CAT	p.P539H	COG3_uc001vaj.1_Missense_Mutation_p.P539H|COG3_uc010tfv.1_Missense_Mutation_p.P376H|COG3_uc010aci.2_Missense_Mutation_p.P315H	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	component of golgi transport complex 3	539					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|skin(1)	2		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TCCCTCAATCCTAGACCACAG	0.383													A	46083848	C	A	46083848	3	1	49	1	0	0	0	0	1	0	0	0	3659	681	24	5	1674	5	COG3	13	46083848	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	103755	46083848	69086030	1077	39958											
PHF11	51131	broad.mit.edu	37	chr13	50095067	50095067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctcaattcccgatcatcGctcaaagtggtaagtttcta	7	10	4	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:50095067G>A	uc001vdb.2	+	5	833	c.496G>A	c.(496-498)GCT>ACT	p.A166T	PHF11_uc001vdc.2_Missense_Mutation_p.A127T|PHF11_uc001vdd.2_RNA	NM_001040443	NP_001035533	Q9UIL8	PHF11_HUMAN	PHD finger protein 11 isoform a	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding				0		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		CCCGATCATCGCTCAAAGTGG	0.303													A	50095067	G	A	50095067	3	1	49	1	0	0	0	0	1	0	0	0	11822	1087	38	1	514	1	PHF11	13	50095067	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4011219	50095067	65074811	1078	39959											
HNRNPA1L2	144983	broad.mit.edu	37	chr13	53216743	53216743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattttgagcaatggggaaCgctcacagactgtgtggtaa	12	8	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:53216743C>T	uc001vgx.1	+	7	1189	c.116C>T	c.(115-117)ACG>ATG	p.T39M	HNRNPA1L2_uc001vgy.1_Missense_Mutation_p.T39M|HNRNPA1L2_uc001vgz.1_Missense_Mutation_p.T39M	NM_001011724	NP_001011724	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like	39	Globular A domain.|RRM 1.				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding				0						CAATGGGGAACGCTCACAGAC	0.512													T	53216743	C	T	53216743	3	4	49	1	0	0	0	0	1	0	0	0	7258	536	19	1	118	1	HNRNPA1L2	13	53216743	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3121676	53216743	61953135	1079	39960											
LECT1	11061	broad.mit.edu	37	chr13	53313766	53313766	+	Splice_Site	DEL	G	G	-													aatccctggcggtactcaccGgggggctgcagaattccacg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:53313765_53313765CG>C	uc001vhf.2	-	1	183	c.72_splice	c.e1+1	p.P24_splice	LECT1_uc001vhg.2_Splice_Site_p.P24_splice|LECT1_uc001vhh.2_Splice_Site_p.P51_splice	NM_007015	NP_008946	O75829	LECT1_HUMAN	Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA.	24					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CGGTACTCACCGGGGGGCTGC	0.597													-	53313766	G	-	53313766	8	5	49	1	0	1	0	1	0	0	1	0	8712	1130	39	0	961	0	LECT1	13	53313766	Splice_Site	DEL	G	TCGA-BR-7707-01A-11D-2053-08	97023	53313766	61856112	1080	39961											
PCDH17	27253	broad.mit.edu	37	chr13	58207949	58207949	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactacgacaacttctacacGgtggtgactgaccgcccgct	9	14	1	2	rs142073852		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:58207949G>A	uc001vhq.1	+	1	2161	c.1269G>A	c.(1267-1269)ACG>ACA	p.T423T	PCDH17_uc010aec.1_Silent_p.T423T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	423	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACTTCTACACGGTGGTGACTG	0.512													A	58207949	G	A	58207949	2	1	49	1	0	0	0	0	0	0	0	1	11512	1103	39	1		1	PCDH17	13	58207949	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4894183	58207949	56961929	1081	39962											
PCDH17	27253	broad.mit.edu	37	chr13	58208794	58208794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagcaccactgggacatgtCgctgccgctcatcgtgactc	11	15	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:58208794C>T	uc001vhq.1	+	1	3006	c.2114C>T	c.(2113-2115)TCG>TTG	p.S705L	PCDH17_uc010aec.1_Missense_Mutation_p.S705L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	705	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGGGACATGTCGCTGCCGCTC	0.612													T	58208794	C	T	58208794	3	4	49	1	0	0	0	0	1	0	0	0	11512	893	31	1	2116	1	PCDH17	13	58208794	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	845	58208794	56961084	1082	39963											
KLF5	688	broad.mit.edu	37	chr13	73636260	73636260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagccaccagagtgaaAcgactgcccctcctccggcc	8	17	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:73636260A>G	uc001vje.2	+	2	847	c.523A>G	c.(523-525)ACG>GCG	p.T175A	KLF5_uc001vjd.2_Missense_Mutation_p.T84A	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	175					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CCAGAGTGAAACGACTGCCCC	0.532													G	73636260	A	G	73636260	3	3	49	1	0	0	0	0	1	0	0	0	8349	43	2	3	529	3	KLF5	13	73636260	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	15427466	73636260	41533618	1083	39964											
TBC1D4	9882	broad.mit.edu	37	chr13	75873705	75873705	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtaagggtgagtaggaaacgTccttcctgcagaggaaaaga	14	6	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:75873705T>A	uc001vjl.1	-	17	3264	c.2917A>T	c.(2917-2919)ACG>TCG	p.T973S	TBC1D4_uc010tht.1_Missense_Mutation_p.T183S|TBC1D4_uc010thu.1_Missense_Mutation_p.T130S|TBC1D4_uc010aer.2_Missense_Mutation_p.T965S|TBC1D4_uc010aes.2_Missense_Mutation_p.T910S	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	973	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GTAGGAAACGTCCTTCCTGCA	0.433													A	75873705	T	A	75873705	3	1	49	1	0	0	0	0	1	0	0	0	15619	1667	58	5	999	5	TBC1D4	13	75873705	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	2237445	75873705	39296173	1084	39965											
TBC1D4	9882	broad.mit.edu	37	chr13	75901921	75901921	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agactgttggaccgttcaaaActgtccacacttccaagccg	8	13	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:75901921A>G	uc001vjl.1	-	9	2120	c.1773T>C	c.(1771-1773)AGT>AGC	p.S591S	TBC1D4_uc010aer.2_Silent_p.S591S|TBC1D4_uc010aes.2_Silent_p.S591S	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	591						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ACCGTTCAAAACTGTCCACAC	0.378													G	75901921	A	G	75901921	2	3	49	1	0	0	0	0	0	0	0	1	15619	40	2	3		3	TBC1D4	13	75901921	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	28216	75901921	39267957	1085	39966											
MYCBP2	23077	broad.mit.edu	37	chr13	77671669	77671669	+	Frame_Shift_Del	DEL	T	T	-													tttcttttttctttttttccTttttggacttcttattctct					rs149154232		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:77671669delT	uc001vkf.2	-	57	9597	c.9506delA	c.(9505-9507)AAGfs	p.K3169fs	MYCBP2_uc010aev.2_Frame_Shift_Del_p.K2573fs|MYCBP2_uc001vkg.1_Frame_Shift_Del_p.K692fs	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3169	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ctttttttcctttttggactt	0.313													-	77671669	T	-	77671669	7	5	49	1	0	1	0	1	0	0	0	0	10018	1609	56	0	4528	0	MYCBP2	13	77671669	Frame_Shift_Del	DEL	T	TCGA-BR-7707-01A-11D-2053-08	1769748	77671669	37498209	1086	39967											
SLITRK1	114798	broad.mit.edu	37	chr13	84454847	84454847	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggagactagaatccactcGgtttttcaaaggacacaagt	10	9	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:84454847G>A	uc001vlk.2	-	1	1682	c.796C>T	c.(796-798)CGA>TGA	p.R266*		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	266	Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAATCCACTCGGTTTTTCAAA	0.557													A	84454847	G	A	84454847	4	1	49	1	0	0	0	0	0	1	0	0	14742	1124	39	1	1298	1	SLITRK1	13	84454847	Nonsense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	6783178	84454847	30715031	1087	39968											
DNAJC3	5611	broad.mit.edu	37	chr13	96375615	96375615	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaattgaagatggacttcActgcagtaagtatatctcaa	7	7	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:96375615A>G	uc001vmq.2	+	3	421	c.313A>G	c.(313-315)ACT>GCT	p.T105A	DNAJC3_uc001vmp.2_Missense_Mutation_p.T105A|DNAJC3_uc001vmr.2_Missense_Mutation_p.T105A	NM_006260	NP_006251	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	105	TPR 3.				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding				0	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			GATGGACTTCACTGCAGTAAG	0.378													G	96375615	A	G	96375615	3	3	49	1	0	0	0	0	1	0	0	0	4647	159	6	3	323	3	DNAJC3	13	96375615	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	11920768	96375615	18794263	1088	39969											
IPO5	3843	broad.mit.edu	37	chr13	98645415	98645415	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcttgcccttgaagtgatCgtcaccctctctgagactgc	9	14	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:98645415C>T	uc001vnf.1	+	8	914	c.849C>T	c.(847-849)ATC>ATT	p.I283I	IPO5_uc001vne.2_Silent_p.I301I|IPO5_uc010tik.1_Silent_p.I158I|IPO5_uc010til.1_Silent_p.I223I	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	283					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						TTGAAGTGATCGTCACCCTCT	0.378													T	98645415	C	T	98645415	2	4	49	1	0	0	0	0	0	0	0	1	7796	874	31	1		1	IPO5	13	98645415	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2269800	98645415	16524463	1089	39970											
RNF113B	140432	broad.mit.edu	37	chr13	98828582	98828582	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgccatcagttctttggcGgggttaaagatgccgccggt	13	10	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:98828582G>A	uc001vnk.2	-	1	940	c.909C>T	c.(907-909)CCC>CCT	p.P303P	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	303							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GTTCTTTGGCGGGGTTAAAGA	0.577													A	98828582	G	A	98828582	2	1	49	1	0	0	0	0	0	0	0	1	13428	1103	39	1		1	RNF113B	13	98828582	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	183167	98828582	16341296	1090	39971											
FARP1	10160	broad.mit.edu	37	chr13	99092225	99092225	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcccacagattgaggagaGcgaagacgagtggggggtgc	18	7	0	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:99092225G>T	uc001vnj.2	+	22	2780	c.2444G>T	c.(2443-2445)AGC>ATC	p.S815I	FARP1_uc001vnh.2_Missense_Mutation_p.S846I	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	815	PH 1.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ATTGAGGAGAGCGAAGACGAG	0.617													T	99092225	G	T	99092225	3	4	49	1	0	0	0	0	1	0	0	0	5676	971	34	5	2749	5	FARP1	13	99092225	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	263643	99092225	16077653	1091	39972											
DOCK9	23348	broad.mit.edu	37	chr13	99567684	99567684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcttccatttccacttcaCtgtctgctgccaagagataa	5	12	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:99567684C>T	uc001vnt.2	-	8	849	c.794G>A	c.(793-795)AGT>AAT	p.S265N	DOCK9_uc001vnw.2_Missense_Mutation_p.S264N|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.S265N|DOCK9_uc010tis.1_Missense_Mutation_p.S264N|DOCK9_uc010tit.1_Missense_Mutation_p.S265N|DOCK9_uc010afu.1_Missense_Mutation_p.S80N	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	265	PH.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTCCACTTCACTGTCTGCTGC	0.403													T	99567684	C	T	99567684	3	4	49	1	0	0	0	0	1	0	0	0	4694	565	20	4	5672	4	DOCK9	13	99567684	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	475459	99567684	15602194	1092	39973											
ATP11A	23250	broad.mit.edu	37	chr13	113470405	113470405	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtcctgtaggttggggaCattgtcatggttaaggagga	15	4	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:113470405C>T	uc001vsi.3	+	6	538	c.450C>T	c.(448-450)GAC>GAT	p.D150D	ATP11A_uc001vsj.3_Silent_p.D150D|ATP11A_uc001vsm.1_Silent_p.D26D	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	150	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AGGTTGGGGACATTGTCATGG	0.567													T	113470405	C	T	113470405	2	4	49	1	0	0	0	0	0	0	0	1	1119	477	17	4		4	ATP11A	13	113470405	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	13902721	113470405	1699473	1093	39974											
TMCO3	55002	broad.mit.edu	37	chr13	114152698	114152698	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctggcagcagaaaaacaTcaagttgaagcccttaaaaa	7	9	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:114152698T>C	uc001vtu.3	+	3	847	c.486T>C	c.(484-486)CAT>CAC	p.H162H	TMCO3_uc001vtt.3_Silent_p.H162H	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	162	Potential.					integral to membrane	solute:hydrogen antiporter activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CAGAAAAACATCAAGTTGAAG	0.363													C	114152698	T	C	114152698	2	2	49	1	0	0	0	0	0	0	0	1	15994	1432	50	3		3	TMCO3	13	114152698	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	682293	114152698	1017180	1094	39975											
RASA3	22821	broad.mit.edu	37	chr13	114780744	114780744	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agatgtcacacatgacggtcGggcagctcaccccagactca	10	14	3	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:114780744G>C	uc001vui.2	-	14	1477	c.1346C>G	c.(1345-1347)CCG>CGG	p.P449R	RASA3_uc010tkk.1_Missense_Mutation_p.P417R|RASA3_uc001vuj.2_Missense_Mutation_p.P66R	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	449	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CATGACGGTCGGGCAGCTCAC	0.622													C	114780744	G	C	114780744	3	2	49	1	0	0	0	0	1	0	0	0	13062	1116	39	5	1202	5	RASA3	13	114780744	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	628046	114780744	389134	1095	39976											
RNASE9	390443	broad.mit.edu	37	chr14	21024951	21024951	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacccaacggtgtttgtagTaaacattttttcccatgatt	6	10	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:21024951T>C	uc010aho.2	-	4	437	c.278A>G	c.(277-279)TAC>TGC	p.Y93C	RNASE9_uc001vxq.3_Missense_Mutation_p.Y98C|RNASE9_uc010ahp.2_Missense_Mutation_p.Y98C|RNASE9_uc010ahq.2_Missense_Mutation_p.Y98C|RNASE9_uc010ahr.2_Missense_Mutation_p.Y98C|RNASE9_uc010ahs.2_Missense_Mutation_p.Y93C|RNASE9_uc010aht.2_Missense_Mutation_p.Y93C|RNASE9_uc010ahu.2_Missense_Mutation_p.Y93C	NM_001110357	NP_001103827	P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	93						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			ovary(2)	2	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		GTGTTTGTAGTAAACATTTTT	0.373													C	21024951	T	C	21024951	3	2	49	1	0	0	0	0	1	0	0	0	13410	1638	57	3	343	3	RNASE9	14	21024951	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08		21024951	86324589	1096	39977											
RNASE11	122651	broad.mit.edu	37	chr14	21052427	21052427	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtaatgtggaagacatatcAtccttggacatgctgaggct	11	7	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:21052427A>G	uc010ahv.2	-	2	392	c.207T>C	c.(205-207)GAT>GAC	p.D69D	RNASE11_uc010ahx.2_Silent_p.D69D|RNASE11_uc010ahw.2_Silent_p.D69D|RNASE11_uc001vxs.2_Silent_p.D69D	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	69						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			ovary(3)	3	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		AAGACATATCATCCTTGGACA	0.388													G	21052427	A	G	21052427	2	3	49	1	0	0	0	0	0	0	0	1	13401	214	8	3		3	RNASE11	14	21052427	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	27476	21052427	86297113	1097	39978											
RPGRIP1	57096	broad.mit.edu	37	chr14	21769187	21769187	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgggtcgcggaggaggCggcgccgctctcggagaccg	19	14	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:21769187C>A	uc001wag.2	+	3	281	c.281C>A	c.(280-282)GCG>GAG	p.A94E		NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	94					response to stimulus|visual perception	cilium		p.H94Y(1)		ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GCGGAGGAGGCGGCGCCGCTC	0.677													A	21769187	C	A	21769187	3	1	49	1	0	0	0	0	1	0	0	0	13549	768	27	5	291	5	RPGRIP1	14	21769187	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	716760	21769187	85580353	1098	39979											
RAB2B	84932	broad.mit.edu	37	chr14	21944741	21944741	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atctgtaaactgcaggaggaGacatgacttccccacacctg	9	12	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:21944741G>A	uc010tlt.1	-	2	165	c.64C>T	c.(64-66)CTC>TTC	p.L22F	RAB2B_uc010tls.1_5'UTR|RAB2B_uc001wax.2_5'UTR|RAB2B_uc010ain.2_5'UTR|TOX4_uc001way.2_5'Flank|TOX4_uc001waz.2_5'Flank|TOX4_uc001wba.2_5'Flank|TOX4_uc010tlu.1_5'Flank	NM_032846	NP_116235	Q8WUD1	RAB2B_HUMAN	RAB2B protein isoform 1	22					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding			ovary(1)	1	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		TGCAGGAGGAGACATGACTTC	0.517													A	21944741	G	A	21944741	3	1	49	1	0	0	0	0	1	0	0	0	12918	942	33	4	614	4	RAB2B	14	21944741	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	175554	21944741	85404799	1099	39980											
LRP10	26020	broad.mit.edu	37	chr14	23345962	23345962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggcacccccttcctacGggcagctcattgcccagggt	11	16	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:23345962G>A	uc001whd.2	+	6	2042	c.1489G>A	c.(1489-1491)GGG>AGG	p.G497R	LRP10_uc001whe.2_Missense_Mutation_p.G373R	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein	497	Cytoplasmic (Potential).				endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CCCTTCCTACGGGCAGCTCAT	0.552													A	23345962	G	A	23345962	3	1	49	1	0	0	0	0	1	0	0	0	8952	1116	39	1	1511	1	LRP10	14	23345962	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1401221	23345962	84003578	1100	39981											
CDH24	64403	broad.mit.edu	37	chr14	23522901	23522901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagataggctgggtcaatgaGcgtgttggtggcctcgacac	15	9	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:23522901G>A	uc001wil.2	-	7	1290	c.1030C>T	c.(1030-1032)CTC>TTC	p.L344F	CDH24_uc010akf.2_Missense_Mutation_p.L344F|CDH24_uc001win.3_Missense_Mutation_p.L344F	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	344	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GGGTCAATGAGCGTGTTGGTG	0.602													A	23522901	G	A	23522901	3	1	49	1	0	0	0	0	1	0	0	0	3109	971	34	2	1457	2	CDH24	14	23522901	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	176939	23522901	83826639	1101	39982											
SLC22A17	51310	broad.mit.edu	37	chr14	23818480	23818480	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgggagggtgccacttaCgcatcaggtagacacccagg	13	11	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:23818480C>T	uc001wjl.2	-	3	582	c.526_splice	c.e3+1	p.R176_splice	SLC22A17_uc010akk.2_Splice_Site|SLC22A17_uc001wjn.2_Splice_Site|SLC22A17_uc001wjm.2_Splice_Site_p.R176_splice|SLC22A17_uc010akl.1_Missense_Mutation_p.R176H	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17 isoform a						siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity				0	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GTGCCACTTACGCATCAGGTA	0.617													T	23818480	C	T	23818480	5	4	49	1	0	0	0	0	0	0	1	0	14448	550	19	1	1117	1	SLC22A17	14	23818480	Splice_Site	SNP	C	TCGA-BR-7707-01A-11D-2053-08	295579	23818480	83531060	1102	39983											
MYH6	4624	broad.mit.edu	37	chr14	23871975	23871975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccctgagacacgaaggcGtagtcgtagggattgttggt	14	8	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:23871975G>A	uc001wjv.2	-	11	1000	c.933C>T	c.(931-933)TAC>TAT	p.Y311Y	MYH6_uc010akp.1_Silent_p.Y311Y	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	311	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACACGAAGGCGTAGTCGTAGG	0.433													A	23871975	G	A	23871975	2	1	49	1	0	0	0	0	0	0	0	1	10038	1140	40	1		1	MYH6	14	23871975	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	53495	23871975	83477565	1103	39984											
MYH7	4625	broad.mit.edu	37	chr14	23898464	23898464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacattctgccccttggtgaCgtactcattgcccactttca	7	14	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:23898464C>T	uc001wjx.2	-	13	1337	c.1231G>A	c.(1231-1233)GTC>ATC	p.V411I		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	411	Myosin head-like.		V -> I (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCCTTGGTGACGTACTCATTG	0.567													T	23898464	C	T	23898464	3	4	49	1	0	0	0	0	1	0	0	0	10039	536	19	1	4688	1	MYH7	14	23898464	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	26489	23898464	83451076	1104	39985											
LRRC16B	90668	broad.mit.edu	37	chr14	24523312	24523312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaggccctgacctcctggCgcctccacctcttcctcctt	7	19	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:24523312C>T	uc001wlj.2	+	3	308	c.151C>T	c.(151-153)CGC>TGC	p.R51C		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	51										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		GACCTCCTGGCGCCTCCACCT	0.617													T	24523312	C	T	24523312	3	4	49	1	0	0	0	0	1	0	0	0	8972	768	27	1	161	1	LRRC16B	14	24523312	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	624848	24523312	82826228	1105	39986											
LRRC16B	90668	broad.mit.edu	37	chr14	24532697	24532697	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcatcaaacacaagggagGccccgcccccccaggaccac	10	18	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:24532697G>T	uc001wlj.2	+	31	3091	c.2934G>T	c.(2932-2934)AGG>AGT	p.R978S	LRRC16B_uc001wlk.2_Missense_Mutation_p.R74S	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	978										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		CACAAGGGAGGCCCCGCCCCC	0.597													T	24532697	G	T	24532697	3	4	49	1	0	0	0	0	1	0	0	0	8972	1194	42	5	3056	5	LRRC16B	14	24532697	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	9385	24532697	82816843	1106	39987											
LRRC16B	90668	broad.mit.edu	37	chr14	24537831	24537831	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accacagctgccagagtcccAgcccagcctcccaagatggg	10	17	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:24537831A>G	uc001wlj.2	+	37	3878	c.3721A>G	c.(3721-3723)AGC>GGC	p.S1241G	LRRC16B_uc001wlk.2_Missense_Mutation_p.S294G|CPNE6_uc010tnv.1_5'Flank|CPNE6_uc001wlm.2_5'Flank|CPNE6_uc001wll.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1241										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		CCAGAGTCCCAGCCCAGCCTC	0.582													G	24537831	A	G	24537831	3	3	49	1	0	0	0	0	1	0	0	0	8972	188	7	3	3867	3	LRRC16B	14	24537831	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	5134	24537831	82811709	1107	39988											
RNF31	55072	broad.mit.edu	37	chr14	24620009	24620009	+	Frame_Shift_Del	DEL	C	C	-													gcccccacgacgccttagtgCccccctgcccagttcctgtg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:24620008_24620008GC>G	uc001wmn.1	+	7	1648	c.1399_1399GC>G	c.(1399-1401)gccfs	p.A467fs	RNF31_uc001wml.1_Frame_Shift_Del_p.A316fs|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Frame_Shift_Del_p.A282fs|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	467	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ACGCCTTAGTGCCCCCCTGCC	0.622													-	24620009	C	-	24620009	7	5	49	1	0	1	0	1	0	0	0	0	13487	739	26	0	1430	0	RNF31	14	24620009	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	82178	24620009	82729531	1108	39989											
ADCY4	196883	broad.mit.edu	37	chr14	24791428	24791428	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcggcagtagtactcAttctggggagggtcacccgg	15	11	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:24791428A>G	uc001wov.2	-	20	2436	c.2430T>C	c.(2428-2430)AAT>AAC	p.N810N	ADCY4_uc001wow.2_Silent_p.N810N|ADCY4_uc010toh.1_Silent_p.N496N|ADCY4_uc001wox.2_Silent_p.N810N|ADCY4_uc001woy.2_Silent_p.N810N	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	810	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		AGTAGTACTCATTCTGGGGAG	0.602													G	24791428	A	G	24791428	2	3	49	1	0	0	0	0	0	0	0	1	296	214	8	3		3	ADCY4	14	24791428	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	171419	24791428	82558112	1109	39990											
FOXG1	2290	broad.mit.edu	37	chr14	29237305	29237305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcaccacgggcaagctgCggcgccgctccaccacctcg	13	19	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:29237305C>T	uc001wqe.2	+	1	1019	c.820C>T	c.(820-822)CGG>TGG	p.R274W		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	274	Fork-head.			Missing (in Ref. 1; CAA52240 and 2; CAA55038).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGGCAAGCTGCGGCGCCGCTC	0.701													T	29237305	C	T	29237305	3	4	49	1	0	0	0	0	1	0	0	0	6007	759	27	1	822	1	FOXG1	14	29237305	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	4445877	29237305	78112235	1110	39991											
RALGAPA1	253959	broad.mit.edu	37	chr14	36147154	36147154	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatctaattttgaaatattGcctagatcatctggtgtctg	7	6	4	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:36147154G>A	uc001wti.2	-	21	3497	c.3106_splice	c.e21+1	p.E1036_splice	RALGAPA1_uc001wtj.2_Splice_Site_p.E1036_splice|RALGAPA1_uc010tpv.1_Splice_Site_p.E1049_splice|RALGAPA1_uc010tpw.1_Splice_Site_p.E1083_splice|RALGAPA1_uc001wtk.1_Silent_p.G934G	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1						activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						TTGAAATATTGCCTAGATCAT	0.368													A	36147154	G	A	36147154	5	1	49	1	0	0	0	0	0	0	1	0	13013	1333	46	2	3235	2	RALGAPA1	14	36147154	Splice_Site	SNP	G	TCGA-BR-7707-01A-11D-2053-08	6909849	36147154	71202386	1111	39992											
BRMS1L	84312	broad.mit.edu	37	chr14	36302197	36302197	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttaagactttataaagaaCgattaagtcaggtggatgca	10	4	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:36302197C>T	uc001wtl.2	+	3	373	c.247C>T	c.(247-249)CGA>TGA	p.R83*	BRMS1L_uc010tpx.1_Nonsense_Mutation_p.R35*	NM_032352	NP_115728	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	83	Potential.				regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				skin(1)	1	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		TTATAAAGAACGATTAAGTCA	0.323													T	36302197	C	T	36302197	4	4	49	1	0	0	0	0	0	1	0	0	1517	528	19	1	257	1	BRMS1L	14	36302197	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	155043	36302197	71047343	1112	39993											
PAX9	5083	broad.mit.edu	37	chr14	37132240	37132240	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcagccgccagctacgggTctcgcacggctgcgtcagca	12	16	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:37132240T>C	uc001wty.3	+	3	860	c.143T>C	c.(142-144)GTC>GCC	p.V48A	PAX9_uc010amq.2_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	48	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CAGCTACGGGTCTCGCACGGC	0.662													C	37132240	T	C	37132240	3	2	49	1	0	0	0	0	1	0	0	0	11486	1667	58	3	149	3	PAX9	14	37132240	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	830043	37132240	70217300	1113	39994											
LRFN5	145581	broad.mit.edu	37	chr14	42356964	42356964	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatataattaagctccctcActtactaaatagtacaaacc	2	11	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:42356964A>G	uc001wvm.2	+	3	2334	c.1136A>G	c.(1135-1137)CAC>CGC	p.H379R	LRFN5_uc010ana.2_Missense_Mutation_p.H379R	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	379	Extracellular (Potential).					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AAGCTCCCTCACTTACTAAAT	0.398										HNSCC(30;0.082)			G	42356964	A	G	42356964	3	3	49	1	0	0	0	0	1	0	0	0	8941	159	6	3	1138	3	LRFN5	14	42356964	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	5224724	42356964	64992576	1114	39995											
KLHL28	54813	broad.mit.edu	37	chr14	45414264	45414264	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagagtccagatttccCtcctactgcacaaagtactt	7	12	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:45414264C>G	uc001wvq.2	-	2	1114	c.868G>C	c.(868-870)GGG>CGG	p.G290R	KLHL28_uc001wvr.2_Missense_Mutation_p.G290R|KLHL28_uc001wvt.3_Missense_Mutation_p.G290R	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	290	Kelch 1.									ovary(1)	1						CCAGATTTCCCTCCTACTGCA	0.403													G	45414264	C	G	45414264	3	3	49	1	0	0	0	0	1	0	0	0	8382	681	24	5	863	5	KLHL28	14	45414264	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3057300	45414264	61935276	1115	39996											
FANCM	57697	broad.mit.edu	37	chr14	45645243	45645243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaaaatgaaaatttagtaCctaacaatcgtgttcaaata	4	6	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:45645243C>T	uc001wwd.3	+	14	3385	c.3286C>T	c.(3286-3288)CCT>TCT	p.P1096S	FANCM_uc010anf.2_Missense_Mutation_p.P1070S|FANCM_uc001wwe.3_Missense_Mutation_p.P632S|FANCM_uc010ang.2_Missense_Mutation_p.P310S	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1096					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						AAATTTAGTACCTAACAATCG	0.348								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				T	45645243	C	T	45645243	3	4	49	1	0	0	0	0	1	0	0	0	5671	507	18	4	3340	4	FANCM	14	45645243	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	230979	45645243	61704297	1116	39997											
MDGA2	161357	broad.mit.edu	37	chr14	47342767	47342767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcgccttccaatctgggtCgtgatgtctcaatgtacata	8	10	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:47342767C>T	uc001wwj.3	-	14	2610	c.2414G>A	c.(2413-2415)CGA>CAA	p.R805Q	MDGA2_uc001wwh.3_Missense_Mutation_p.R7Q|MDGA2_uc001wwi.3_Missense_Mutation_p.R576Q|MDGA2_uc010ani.2_Missense_Mutation_p.R365Q	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	805	MAM.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						CAATCTGGGTCGTGATGTCTC	0.378													T	47342767	C	T	47342767	3	4	49	1	0	0	0	0	1	0	0	0	9407	884	31	1	472	1	MDGA2	14	47342767	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1697524	47342767	60006773	1117	39998											
SOS2	6655	broad.mit.edu	37	chr14	50606660	50606661	+	Frame_Shift_Ins	INS	-	-	A													tccatatttagtaacttaccINSaaaaaaaggcacacaaggtg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:50606660_50606661insA	uc001wxs.3	-	17	2882_2883	c.2784_2785insT	c.(2782-2787)TTTGGAfs	p.F928fs	SOS2_uc010tql.1_Frame_Shift_Ins_p.F895fs|SOS2_uc010tqm.1_RNA	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	928_929	Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					AGTAACTTACCAAAAAAAGGCA	0.188													A	50606661	-	A	50606660	7	5	49	1	0	1	1	0	0	0	0	0	14937	608	21	0	1241	0	SOS2	14	50606660	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	3263893	50606660	56742880	1118	39999	134	2									
SOS2	6655	broad.mit.edu	37	chr14	50606661	50606662	+	Splice_Site	INS	-	-	A													ccatatttagtaacttaccaINSaaaaaaggcacacaaggtgg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:50606660_50606661C>CA	uc001wxs.4	-	17	2883	c.2785_splice	c.e17+1	p.G929_splice	SOS2_uc010tql.2_Splice_Site_p.G896_splice|SOS2_uc010tqm.1_Splice_Site	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	929	Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AGTAACTTACCAAAAAAAGGCA	0.342													A	50606662	-	A	50606661	8	5	49	1	0	1	1	0	0	0	1	0	14937	144	5	0	1242	0	SOS2	14	50606661	Splice_Site	INS	-	TCGA-BR-7707-01A-11D-2053-08	1	50606661	56742879	1119	40000	134	2									
ABHD12B	145447	broad.mit.edu	37	chr14	51355547	51355547	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctttcatttcaaggatgcCcagttgatgctattgtcttg	8	8	4	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:51355547C>A	uc001wys.2	+	9	721	c.706C>A	c.(706-708)CCA>ACA	p.P236T	ABHD12B_uc001wyq.2_Missense_Mutation_p.P129T|ABHD12B_uc001wyr.2_Missense_Mutation_p.P159T|ABHD12B_uc010any.2_RNA	NM_181533	NP_853511	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B isoform b	236							hydrolase activity			breast(1)	1	all_epithelial(31;0.00481)|Breast(41;0.148)					TCAAGGATGCCCAGTTGATGC	0.353													A	51355547	C	A	51355547	3	1	49	1	0	0	0	0	1	0	0	0	77	623	22	5	519	5	ABHD12B	14	51355547	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	748886	51355547	55993993	1120	40001											
TRIM9	114088	broad.mit.edu	37	chr14	51561493	51561493	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtcatagtcggagaccccGgagcccgcggcccgatggct	14	14	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:51561493G>A	uc001wyx.3	-	1	930	c.165C>T	c.(163-165)TCC>TCT	p.S55S	TRIM9_uc001wyy.2_Silent_p.S55S|TRIM9_uc001wyz.3_Silent_p.S55S	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	55					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					CGGAGACCCCGGAGCCCGCGG	0.642													A	51561493	G	A	51561493	2	1	49	1	0	0	0	0	0	0	0	1	16546	1103	39	1		1	TRIM9	14	51561493	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	205946	51561493	55788047	1121	40002											
SAMD4A	23034	broad.mit.edu	37	chr14	55226890	55226890	+	Frame_Shift_Del	DEL	G	G	-													accgtccaggacatcatcgaGgggggcagcctgcgcatccc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:55226889_55226889AG>A	uc001xbb.3	+	5	1492	c.1184_1184AG>A	c.(1183-1185)gagfs	p.E395fs	SAMD4A_uc001xbc.3_Frame_Shift_Del_p.E308fs|SAMD4A_uc001xbg.2_5'UTR	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA.	396					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	p.I394I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GACATCATCGAGGGGGGCAGC	0.637													-	55226890	G	-	55226890	7	5	49	1	0	1	0	1	0	0	0	0	13821	991	35	0	1207	0	SAMD4A	14	55226890	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	3665397	55226890	52122650	1122	40003											
WDHD1	11169	broad.mit.edu	37	chr14	55429711	55429711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatcttcttcttcttcttcCtcttccacctgggttgctgt	5	13	6	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:55429711C>T	uc001xbm.1	-	19	2568	c.2490G>A	c.(2488-2490)GAG>GAA	p.E830E	WDHD1_uc010aom.1_Silent_p.E347E|WDHD1_uc001xbn.1_Silent_p.E707E	NM_007086	NP_009017	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	830	Glu-rich (acidic).					cytoplasm|nucleoplasm	DNA binding			skin(1)	1						cttcttcttcctcttcCACCT	0.333													T	55429711	C	T	55429711	2	4	49	1	0	0	0	0	0	0	0	1	17268	680	24	4		4	WDHD1	14	55429711	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	202821	55429711	51919829	1123	40004											
PSMA3	5684	broad.mit.edu	37	chr14	58734211	58734211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgaaagaaatgacctgccGtgatatcgttaaagaagttg	11	5	0	5			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:58734211G>A	uc001xdj.1	+	8	609	c.563G>A	c.(562-564)CGT>CAT	p.R188H	C14orf37_uc010tro.1_Intron|PSMA3_uc001xdk.1_Missense_Mutation_p.R181H|uc001xdl.2_Intron	NM_002788	NP_002779	P25788	PSA3_HUMAN	proteasome alpha 3 subunit isoform 1	188					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity				0						ATGACCTGCCGTGATATCGTT	0.274													A	58734211	G	A	58734211	3	1	49	1	0	0	0	0	1	0	0	0	12668	1145	40	1	593	1	PSMA3	14	58734211	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	3304500	58734211	48615329	1124	40005											
TOMM20L	387990	broad.mit.edu	37	chr14	58863027	58863027	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgttcgcagaaagaagagcaGagcctcaaaaggctgaggag	14	7	1	5			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:58863027G>A	uc001xdr.1	+	2	180	c.148G>A	c.(148-150)GAG>AAG	p.E50K	TOMM20L_uc010trq.1_RNA	NM_207377	NP_997260	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20	50	Cytoplasmic (Potential).				protein targeting	integral to membrane|mitochondrial outer membrane translocase complex					0						AAGAAGAGCAGAGCCTCAAAA	0.662													A	58863027	G	A	58863027	3	1	49	1	0	0	0	0	1	0	0	0	16352	943	33	4	154	4	TOMM20L	14	58863027	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	128816	58863027	48486513	1125	40006											
WDR89	112840	broad.mit.edu	37	chr14	64066595	64066595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataccaagaaggtaagtgggCtctttggttcctaaggaaca	11	7	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:64066595C>T	uc001xgh.2	-	3	312	c.66G>A	c.(64-66)GAG>GAA	p.E22E	WDR89_uc001xgi.2_Silent_p.E22E	NM_001008726	NP_001008726	Q96FK6	WDR89_HUMAN	WD repeat domain 89	22	WD 1.										0				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		GGTAAGTGGGCTCTTTGGTTC	0.383													T	64066595	C	T	64066595	2	4	49	1	0	0	0	0	0	0	0	1	17333	796	28	2		2	WDR89	14	64066595	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	5203568	64066595	43282945	1126	40007											
SYNE2	23224	broad.mit.edu	37	chr14	64408821	64408821	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgatggaaacccatccaTtatccttggcctaatttgga	7	10	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:64408821T>G	uc001xgm.2	+	6	598	c.368T>G	c.(367-369)ATT>AGT	p.I123S	SYNE2_uc001xgk.2_Missense_Mutation_p.I123S|SYNE2_uc001xgl.2_Missense_Mutation_p.I123S	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	123	CH 1.|Cytoplasmic (Potential).|Actin-binding.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACCCATCCATTATCCTTGGC	0.313													G	64408821	T	G	64408821	3	3	49	1	0	0	0	0	1	0	0	0	15443	1493	52	5	386	5	SYNE2	14	64408821	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	342226	64408821	42940719	1127	40008											
HSPA2	3306	broad.mit.edu	37	chr14	65008911	65008911	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgcaggtatacgagggCgaacgggccatgaccaagga	16	9	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:65008911C>T	uc001xhj.2	+	2	1420	c.1344C>T	c.(1342-1344)GGC>GGT	p.G448G	HSPA2_uc001xhk.3_Silent_p.G448G	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	448					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)		TATACGAGGGCGAACGGGCCA	0.597													T	65008911	C	T	65008911	2	4	49	1	0	0	0	0	0	0	0	1	7411	755	27	1		1	HSPA2	14	65008911	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	600090	65008911	42340629	1128	40009											
SIPA1L1	26037	broad.mit.edu	37	chr14	72152299	72152299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcctccagaaagagccGccaacatccctcgaagcatc	7	17	0	2	rs113469231		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:72152299G>A	uc001xms.2	+	10	3673	c.3325G>A	c.(3325-3327)GCC>ACC	p.A1109T	SIPA1L1_uc001xmt.2_Missense_Mutation_p.A1109T|SIPA1L1_uc001xmu.2_Missense_Mutation_p.A1109T|SIPA1L1_uc001xmv.2_Missense_Mutation_p.A1109T|SIPA1L1_uc010ttm.1_Missense_Mutation_p.A584T	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1109					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AGAAAGAGCCGCCAACATCCC	0.562													A	72152299	G	A	72152299	3	1	49	1	0	0	0	0	1	0	0	0	14329	1087	38	1	3359	1	SIPA1L1	14	72152299	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	7143388	72152299	35197241	1129	40010											
PAPLN	89932	broad.mit.edu	37	chr14	73730973	73730973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccccctgcaggcagaggaCgcgggcacctacagctgtgg	14	15	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:73730973C>T	uc010ttx.1	+	20	3079	c.2916C>T	c.(2914-2916)GAC>GAT	p.D972D	PAPLN_uc001xnw.3_Silent_p.D945D|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.D956D|PAPLN_uc010arm.2_Silent_p.D171D|PAPLN_uc010arn.2_Silent_p.D172D	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	972	Ig-like C2-type 1.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGGCAGAGGACGCGGGCACCT	0.647													T	73730973	C	T	73730973	2	4	49	1	0	0	0	0	0	0	0	1	11428	535	19	1		1	PAPLN	14	73730973	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1578674	73730973	33618567	1130	40011											
DLST	1743	broad.mit.edu	37	chr14	75361105	75361105	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgacaacttttaatgagattGacatgaggtagtgtctctag	10	5	1	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:75361105G>A	uc001xqv.2	+	10	826	c.763G>A	c.(763-765)GAC>AAC	p.D255N	DLST_uc001xqu.2_Missense_Mutation_p.D167N|DLST_uc001xqt.2_Missense_Mutation_p.D171N|DLST_uc010tuw.1_Missense_Mutation_p.D169N|DLST_uc001xqs.2_RNA|DLST_uc010tuv.1_Missense_Mutation_p.D255N	NM_001933	NP_001924	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2	255					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TAATGAGATTGACATGAGGTA	0.453													A	75361105	G	A	75361105	3	1	49	1	0	0	0	0	1	0	0	0	4569	1290	45	4	801	4	DLST	14	75361105	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1630132	75361105	31988435	1131	40012											
ISM2	145501	broad.mit.edu	37	chr14	77942332	77942332	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcgtcctgtaggctcacaGggctgtccatggcctccagt	12	14	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:77942332G>T	uc001xtz.2	-	7	1396	c.1322C>A	c.(1321-1323)CCT>CAT	p.P441H	ISM2_uc001xua.2_3'UTR|ISM2_uc001xty.2_Missense_Mutation_p.P353H|ISM2_uc010tvl.1_Missense_Mutation_p.P360H	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	isthmin 2 homolog isoform 1	441	AMOP.					extracellular region				skin(1)	1						TAGGCTCACAGGGCTGTCCAT	0.647													T	77942332	G	T	77942332	3	4	49	1	0	0	0	0	1	0	0	0	7861	1000	35	5	397	5	ISM2	14	77942332	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2581227	77942332	29407208	1132	40013											
NRXN3	9369	broad.mit.edu	37	chr14	80328033	80328033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggagccgggaatcagacGggttccgggggcctcagagg	18	11	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:80328033G>A	uc001xun.2	+	17	3403	c.2912G>A	c.(2911-2913)CGG>CAG	p.R971Q	NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.R547Q|NRXN3_uc010asw.2_Missense_Mutation_p.R369Q|NRXN3_uc001xur.3_Missense_Mutation_p.R342Q	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1553	Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGAATCAGACGGGTTCCGGGG	0.592													A	80328033	G	A	80328033	3	1	49	1	0	0	0	0	1	0	0	0	10667	1116	39	1	3324	1	NRXN3	14	80328033	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2385701	80328033	27021507	1133	40014											
DIO2	1734	broad.mit.edu	37	chr14	80669184	80669184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacgttcaaaggctacccCgtaagctatgttggcgttat	9	11	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:80669184C>T	uc010tvq.1	-	4	1072	c.670G>A	c.(670-672)GGG>AGG	p.G224R	DIO2_uc010tvp.1_Missense_Mutation_p.G260R|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_3'UTR|DIO2_uc010tvr.1_Missense_Mutation_p.G224R|DIO2_uc010asy.2_3'UTR	NM_000793	NP_000784	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II isoform a	224					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0281)		AAGGCTACCCCGTAAGCTATG	0.542													T	80669184	C	T	80669184	3	4	49	1	0	0	0	0	1	0	0	0	4525	652	23	1	155	1	DIO2	14	80669184	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	341151	80669184	26680356	1134	40015											
PTPN21	11099	broad.mit.edu	37	chr14	88946663	88946663	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttgtctgagagtgacagTagtatccgttctggttgggc	14	7	2	2	rs141723672		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:88946663T>C	uc001xwv.3	-	13	1443	c.1112A>G	c.(1111-1113)TAC>TGC	p.Y371C	PTPN21_uc010twc.1_Missense_Mutation_p.Y167C	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	371						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						AGAGTGACAGTAGTATCCGTT	0.413													C	88946663	T	C	88946663	3	2	49	1	0	0	0	0	1	0	0	0	12786	1638	57	3	2440	3	PTPN21	14	88946663	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	8277479	88946663	18402877	1135	40016											
FOXN3	1112	broad.mit.edu	37	chr14	89878421	89878421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatatccttcactggcaggcGcttggttggagagtcctcga	13	10	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:89878421G>A	uc001xxo.3	-	2	537	c.400C>T	c.(400-402)CGC>TGC	p.R134C	FOXN3_uc001xxn.3_Missense_Mutation_p.R134C|FOXN3_uc010atk.2_Missense_Mutation_p.R134C|FOXN3_uc001xxp.2_Missense_Mutation_p.R134C	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	checkpoint suppressor 1 isoform 1	134	Fork-head.				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(2)|ovary(1)	3						ACTGGCAGGCGCTTGGTTGGA	0.488													A	89878421	G	A	89878421	3	1	49	1	0	0	0	0	1	0	0	0	6021	1087	38	1	1096	1	FOXN3	14	89878421	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	931758	89878421	17471119	1136	40017											
SMEK1	55671	broad.mit.edu	37	chr14	91925133	91925133	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattttgctttctttgacaaTggtaacgtatcttccttatc	5	8	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:91925133T>C	uc001xzn.2	-	15	3294	c.2472A>G	c.(2470-2472)CCA>CCG	p.P824P	SMEK1_uc001xzm.2_Silent_p.P811P|SMEK1_uc001xzo.2_Silent_p.P811P|SMEK1_uc010atz.2_Silent_p.P585P	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1	824						microtubule organizing center|nucleus	protein binding				0		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TCTTTGACAATGGTAACGTAT	0.343													C	91925133	T	C	91925133	2	2	49	1	0	0	0	0	0	0	0	1	14793	1451	51	3		3	SMEK1	14	91925133	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	2046712	91925133	15424407	1137	40018											
LGMN	5641	broad.mit.edu	37	chr14	93170987	93170987	+	Splice_Site	DEL	G	G	-													caccgctgcattagttacctGtgaagcggatacggcttctc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:93170986_93170986TG>T	uc001yav.3	-	14	1620	c.1259_splice	c.e14+1	p.R420_splice	LGMN_uc001yat.3_Splice_Site_p.R363_splice|LGMN_uc001yau.3_Intron|LGMN_uc001yaw.3_Splice_Site_p.R420_splice	NM_001008530	NP_005597	Q99538	LGMN_HUMAN	Homo sapiens legumain (LGMN), transcript variant 2, mRNA.	420					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		ATTAGTTACCTGTGAAGCGGA	0.483													-	93170987	G	-	93170987	8	5	49	1	0	1	0	1	0	0	1	0	8755	1368	48	0	52	0	LGMN	14	93170987	Splice_Site	DEL	G	TCGA-BR-7707-01A-11D-2053-08	1245854	93170987	14178553	1138	40019											
BTBD7	55727	broad.mit.edu	37	chr14	93730184	93730184	+	Frame_Shift_Del	DEL	A	A	-													atggtctttgctgagttcatAaaaaacatccgaagtcatga							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:93730183_93730183TA>T	uc001ybo.3	-	3	1645	c.1319_1319TA>A	c.(1318-1320)tatfs	p.Y440fs	BTBD7_uc010aur.3_Intron|BTBD7_uc010two.2_Intron|BTBD7_uc001ybp.3_Frame_Shift_Del_p.Y89fs|BTBD7_uc001ybq.4_Frame_Shift_Del_p.Y355fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	440										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTGAGTTCATAAAAAACATC	0.423													-	93730184	A	-	93730184	7	5	49	1	0	1	0	1	0	0	0	0	1546	362	13	0	2112	0	BTBD7	14	93730184	Frame_Shift_Del	DEL	A	TCGA-BR-7707-01A-11D-2053-08	559197	93730184	13619356	1139	40020											
KIAA1409	57578	broad.mit.edu	37	chr14	94103591	94103591	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctgggaaacgccagtgtAacgtgccaacgtgcctaaac	11	12	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:94103591A>G	uc001ybv.1	+	31	5481	c.5398A>G	c.(5398-5400)AAC>GAC	p.N1800D	KIAA1409_uc001ybs.1_Missense_Mutation_p.N1778D	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1955						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		acgccagtgtaacgtgccaac	0.005													G	94103591	A	G	94103591	3	3	49	1	0	0	0	0	1	0	0	0	8230	362	13	3	5450	3	KIAA1409	14	94103591	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	373407	94103591	13245949	1140	40021											
DICER1	23405	broad.mit.edu	37	chr14	95562378	95562378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagaagagcgtgaactggCcacagaagcagcagcacagc	12	11	0	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:95562378C>T	uc001ydw.2	-	24	5061	c.4879G>A	c.(4879-4881)GCC>ACC	p.A1627T	DICER1_uc010avh.1_Missense_Mutation_p.A525T|DICER1_uc001ydv.2_Missense_Mutation_p.A1617T|DICER1_uc001ydx.2_Missense_Mutation_p.A1627T|DICER1_uc001ydy.1_Missense_Mutation_p.A479T	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1627					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CGTGAACTGGCCACAGAAGCA	0.438			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				T	95562378	C	T	95562378	3	4	49	1	0	0	0	0	1	0	0	0	4521	739	26	2	909	2	DICER1	14	95562378	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1458787	95562378	11787162	1141	40022											
CLMN	79789	broad.mit.edu	37	chr14	95679626	95679626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtctttcaccgatattgCcacgctcctctctgcagtgg	9	14	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:95679626C>T	uc001yef.2	-	6	654	c.538G>A	c.(538-540)GCA>ACA	p.A180T		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	180	Actin-binding.					integral to membrane	actin binding				0				Epithelial(152;0.193)		ACCGATATTGCCACGCTCCTC	0.577													T	95679626	C	T	95679626	3	4	49	1	0	0	0	0	1	0	0	0	3542	739	26	2	2502	2	CLMN	14	95679626	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	117248	95679626	11669914	1142	40023											
SETD3	84193	broad.mit.edu	37	chr14	99872896	99872896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagccacacactcacagCggtcatcttccaggttgtaa	9	13	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:99872896C>T	uc001ygc.2	-	9	1051	c.881G>A	c.(880-882)CGC>CAC	p.R294H		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	SET domain containing 3 isoform a	294	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity				0		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				ACACTCACAGCGGTCATCTTC	0.522													T	99872896	C	T	99872896	3	4	49	1	0	0	0	0	1	0	0	0	14132	768	27	1	923	1	SETD3	14	99872896	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	4193270	99872896	7476644	1143	40024											
WARS	7453	broad.mit.edu	37	chr14	100801346	100801346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgccttcttgagctcacCggtgagcatggctccgctgg	14	12	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:100801346C>T	uc001yhf.1	-	10	1366	c.1282G>A	c.(1282-1284)GGT>AGT	p.G428S	WARS_uc001yhe.1_Missense_Mutation_p.G234S|WARS_uc001yhg.1_Missense_Mutation_p.G428S|WARS_uc001yhh.1_Missense_Mutation_p.G428S|WARS_uc001yhi.1_Missense_Mutation_p.G387S|WARS_uc001yhj.1_Missense_Mutation_p.G387S|WARS_uc001yhk.1_Missense_Mutation_p.G387S|WARS_uc001yhl.1_Missense_Mutation_p.G428S	NM_173701	NP_776049	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase isoform a	428					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(1)	1		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TTGAGCTCACCGGTGAGCATG	0.597													T	100801346	C	T	100801346	3	4	49	1	0	0	0	0	1	0	0	0	17246	652	23	1	137	1	WARS	14	100801346	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	928450	100801346	6548194	1144	40025											
PPP2R5C	5527	broad.mit.edu	37	chr14	102359431	102359431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaagtgaaatctctgagtGtctaccatccccaggtaagg	9	10	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:102359431G>A	uc001yko.2	+	7	924	c.784G>A	c.(784-786)GTC>ATC	p.V262I	PPP2R5C_uc010txr.1_Missense_Mutation_p.V293I|PPP2R5C_uc001ykk.2_Missense_Mutation_p.V317I|PPP2R5C_uc010txt.1_Missense_Mutation_p.V252I|PPP2R5C_uc001ykn.2_Missense_Mutation_p.V262I|PPP2R5C_uc001ykp.2_Missense_Mutation_p.V262I|PPP2R5C_uc001ykq.2_Missense_Mutation_p.V160I	NM_002719	NP_002710	Q13362	2A5G_HUMAN	gamma isoform of regulatory subunit B56, protein	262					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity			ovary(1)|breast(1)	2						ATCTCTGAGTGTCTACCATCC	0.423													A	102359431	G	A	102359431	3	1	49	1	0	0	0	0	1	0	0	0	12394	1377	48	4	1179	4	PPP2R5C	14	102359431	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1558085	102359431	4990109	1145	40026											
WDR20	91833	broad.mit.edu	37	chr14	102676020	102676020	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaccaaaaccaaaacggacCctgctaaaactctgggaacg	7	12	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:102676020C>A	uc001ykz.2	+	3	1562	c.1513C>A	c.(1513-1515)CCT>ACT	p.P505T	WDR20_uc001yky.1_Missense_Mutation_p.P248T|WDR20_uc001yla.2_Missense_Mutation_p.P381T|WDR20_uc001ylb.2_Missense_Mutation_p.P444T|WDR20_uc010txu.1_Missense_Mutation_p.P536T|WDR20_uc001ylc.2_Intron|WDR20_uc001yld.2_Missense_Mutation_p.P505T|WDR20_uc001yle.2_Missense_Mutation_p.P444T|WDR20_uc001ylf.2_Missense_Mutation_p.P517T	NM_144574	NP_653175	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20 isoform 2	505											0						CAAAACGGACCCTGCTAAAAC	0.458											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	102676020	C	A	102676020	3	1	49	1	0	0	0	0	1	0	0	0	17277	623	22	5	1540	5	WDR20	14	102676020	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	316589	102676020	4673520	1146	40027											
RAGE	5891	broad.mit.edu	37	chr14	102717229	102717229	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcagtgaggagacactcCggggcccggtaccagcgggt	15	13	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:102717229C>T	uc001ylm.2	-	7	736	c.510G>A	c.(508-510)CCG>CCA	p.P170P	RAGE_uc010txv.1_Silent_p.P140P|RAGE_uc001yln.2_5'UTR	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN	MAPK/MAK/MRK overlapping kinase	170	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						GGAGACACTCCGGGGCCCGGT	0.587													T	102717229	C	T	102717229	2	4	49	1	0	0	0	0	0	0	0	1	13006	639	23	1		1	RAGE	14	102717229	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	41209	102717229	4632311	1147	40028											
KIAA0284	283638	broad.mit.edu	37	chr14	105350360	105350360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcgacgaggacacaccccGaaagaagcgctcccagtcct	9	16	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:105350360G>A	uc010axb.2	+	9	1468	c.1244G>A	c.(1243-1245)CGA>CAA	p.R415Q	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.R345Q|KIAA0284_uc001yps.2_Missense_Mutation_p.R321Q	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	415						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GACACACCCCGAAAGAAGCGC	0.652													A	105350360	G	A	105350360	3	1	49	1	0	0	0	0	1	0	0	0	8166	1058	37	1	1274	1	KIAA0284	14	105350360	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2633131	105350360	1999180	1148	40029											
JAG2	3714	broad.mit.edu	37	chr14	105622217	105622217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagttctcgtcgcagcgcacGcggatctgcagctccaggtg	13	13	2	0	rs139004148		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:105622217G>A	uc001yqg.2	-	4	989	c.585C>T	c.(583-585)CGC>CGT	p.R195R	JAG2_uc001yqh.2_Silent_p.R195R	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	195	Extracellular (Potential).				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			lung(3)|breast(2)	5		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CGCAGCGCACGCGGATCTGCA	0.622													A	105622217	G	A	105622217	2	1	49	1	0	0	0	0	0	0	0	1	7935	1074	38	1		1	JAG2	14	105622217	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	271857	105622217	1727323	1149	40030											
BRF1	2972	broad.mit.edu	37	chr14	105693007	105693007	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctctgcccagctgtgtaCgagggggggtcgcactcctc	13	14	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:105693007C>T	uc001yqp.2	-	8	1242	c.879G>A	c.(877-879)TCG>TCA	p.S293S	BRF1_uc010tyo.1_Silent_p.S178S|BRF1_uc010typ.1_Silent_p.S178S|BRF1_uc001yql.2_Silent_p.S89S|BRF1_uc001yqo.2_Silent_p.S55S|BRF1_uc010axg.1_Silent_p.S266S|BRF1_uc001yqn.2_RNA|BRF1_uc010axh.1_RNA|BRF1_uc010axj.1_RNA	NM_001519	NP_001510	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1	293					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CAGCTGTGTACGAGGGGGGGT	0.582													T	105693007	C	T	105693007	2	4	49	1	0	0	0	0	0	0	0	1	1510	523	19	1		1	BRF1	14	105693007	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	70790	105693007	1656533	1150	40031											
CYFIP1	23191	broad.mit.edu	37	chr15	22928165	22928165	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggccaagaatatgctgtcAtgctgtacacctggaggagc	13	9	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:22928165A>G	uc001yus.2	+	4	348	c.244A>G	c.(244-246)ATG>GTG	p.M82V	CYFIP1_uc001yut.2_Missense_Mutation_p.M82V|CYFIP1_uc010aya.1_Missense_Mutation_p.M110V	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	82					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ATATGCTGTCATGCTGTACAC	0.612													G	22928165	A	G	22928165	3	3	49	1	0	0	0	0	1	0	0	0	4137	217	8	3	254	3	CYFIP1	15	22928165	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08		22928165	79603227	1151	40032											
MAGEL2	54551	broad.mit.edu	37	chr15	23889660	23889660	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttggtatcaatttctttcAattgataaccaaaggcacac	5	8	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:23889660A>G	uc001ywj.3	-	1	1516	c.1421T>C	c.(1420-1422)TTG>TCG	p.L474S		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AATTTCTTTCAATTGATAACC	0.418													G	23889660	A	G	23889660	3	3	49	1	0	0	0	0	1	0	0	0	9189	131	5	3	523	3	MAGEL2	15	23889660	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	961495	23889660	78641732	1152	40033											
NDN	4692	broad.mit.edu	37	chr15	23932112	23932112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgggcccggctgggccgCgctcggggcctggtgggcgc	21	15	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:23932112C>T	uc001ywk.2	-	1	339	c.253G>A	c.(253-255)GCG>ACG	p.A85T		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	85					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGCTGGGCCGCGCTCGGGGCC	0.741									Prader-Willi_syndrome				T	23932112	C	T	23932112	3	4	49	1	0	0	0	0	1	0	0	0	10247	768	27	1	716	1	NDN	15	23932112	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	42452	23932112	78599280	1153	40034											
ATP10A	57194	broad.mit.edu	37	chr15	25971230	25971230	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagagccttggtttcatgtcCtgtcggggaggacaaagaga	14	8	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:25971230C>A	uc010ayu.2	-	5	954	c.848_splice	c.e5-1	p.G283_splice		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A						ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GTTTCATGTCCTGTCGGGGAG	0.572													A	25971230	C	A	25971230	5	1	49	1	0	0	0	0	0	0	1	0	1116	695	24	5	3720	5	ATP10A	15	25971230	Splice_Site	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2039118	25971230	76560162	1154	40035											
GABRA5	2558	broad.mit.edu	37	chr15	27160004	27160004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacttcccgatggatgcGcacgcttgccctctgaaatt	11	12	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:27160004G>A	uc001zbd.1	+	8	891	c.552G>A	c.(550-552)GCG>GCA	p.A184A	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	184	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CGATGGATGCGCACGCTTGCC	0.438													A	27160004	G	A	27160004	2	1	49	1	0	0	0	0	0	0	0	1	6164	1074	38	1		1	GABRA5	15	27160004	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1188774	27160004	75371388	1155	40036											
HERC2	8924	broad.mit.edu	37	chr15	28514464	28514464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcaggaaacgcttctctGcacaggcaatctgtgtgact	10	10	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:28514464G>A	uc001zbj.2	-	11	1482	c.1376C>T	c.(1375-1377)GCA>GTA	p.A459V	HERC2_uc001zbl.1_Missense_Mutation_p.A154V	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	459					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGCTTCTCTGCACAGGCAAT	0.522													A	28514464	G	A	28514464	3	1	49	1	0	0	0	0	1	0	0	0	7058	1319	46	2	13460	2	HERC2	15	28514464	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1354460	28514464	74016928	1156	40037											
TRPM1	4308	broad.mit.edu	37	chr15	31332410	31332410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtgagcaatgaagtcccGgtgtttggctgccacggcca	15	10	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:31332410G>A	uc001zfm.2	-	17	2289	c.2161C>T	c.(2161-2163)CGG>TGG	p.R721W	TRPM1_uc010azy.2_Missense_Mutation_p.R628W|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	721	Cytoplasmic (Potential).		R -> Q (in CSNB1C).		cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ATGAAGTCCCGGTGTTTGGCT	0.557													A	31332410	G	A	31332410	3	1	49	1	0	0	0	0	1	0	0	0	16582	1115	39	1	2694	1	TRPM1	15	31332410	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2817946	31332410	71198982	1157	40038											
RYR3	6263	broad.mit.edu	37	chr15	34123231	34123231	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaatctggacagcacaAtttttccaaagctctggcag	9	9	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:34123231A>T	uc001zhi.2	+	86	11472	c.11402A>T	c.(11401-11403)AAT>ATT	p.N3801I	RYR3_uc010bar.2_Missense_Mutation_p.N3796I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3801					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGACAGCACAATTTTTCCAAA	0.378													T	34123231	A	T	34123231	3	4	49	1	0	0	0	0	1	0	0	0	13770	101	4	5	11744	5	RYR3	15	34123231	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	2790821	34123231	68408161	1158	40039											
AVEN	57099	broad.mit.edu	37	chr15	34168182	34168182	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcagcaaaccggaactGtgagaatgagtcccctagga	10	12	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:34168182G>A	uc001zhj.2	-	3	516	c.460C>T	c.(460-462)CAG>TAG	p.Q154*		NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN	cell death regulator aven	154					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			kidney(1)	1		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		AACCGGAACTGTGAGAATGAG	0.408													A	34168182	G	A	34168182	4	1	49	1	0	0	0	0	0	1	0	0	1226	1386	48	4	644	4	AVEN	15	34168182	Nonsense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	44951	34168182	68363210	1159	40040											
AVEN	57099	broad.mit.edu	37	chr15	34295366	34295366	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagaataatttccctgttcAtcattctcttctccataggt	4	10	4	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:34295366A>G	uc001zhj.2	-	2	368	c.312T>C	c.(310-312)GAT>GAC	p.D104D	CHRM5_uc001zhk.1_Intron	NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN	cell death regulator aven	104					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			kidney(1)	1		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		TTCCCTGTTCATCATTCTCTT	0.383													G	34295366	A	G	34295366	2	3	49	1	0	0	0	0	0	0	0	1	1226	214	8	3		3	AVEN	15	34295366	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	127184	34295366	68236026	1160	40041											
ZNF770	54989	broad.mit.edu	37	chr15	35273567	35273567	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggttgcgacaatttacataAccgaatctaaggcaaccact	7	10	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:35273567A>G	uc001ziw.2	-	3	2380	c.2069T>C	c.(2068-2070)GTT>GCT	p.V690A		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	690					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AATTTACATAACCGAATCTAA	0.383													G	35273567	A	G	35273567	3	3	49	1	0	0	0	0	1	0	0	0	18140	43	2	3	10	3	ZNF770	15	35273567	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	978201	35273567	67257825	1161	40042											
MEIS2	4212	broad.mit.edu	37	chr15	37388529	37388529	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcctcgttgaaggagtcGgaggagcagacgtctccgcc	14	11	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:37388529G>A	uc001zjr.2	-	3	1385	c.348C>T	c.(346-348)TCC>TCT	p.S116S	MEIS2_uc001zjl.2_Silent_p.S103S|MEIS2_uc010ucj.1_Silent_p.S103S|MEIS2_uc001zjm.2_Silent_p.S28S|MEIS2_uc001zjn.2_Intron|MEIS2_uc001zjo.2_Silent_p.S116S|MEIS2_uc001zjp.2_Silent_p.S116S|MEIS2_uc001zjs.2_Silent_p.S116S|MEIS2_uc001zju.2_Silent_p.S103S|MEIS2_uc001zjt.2_Silent_p.S116S	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	116					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)	2		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TGAAGGAGTCGGAGGAGCAGA	0.602													A	37388529	G	A	37388529	2	1	49	1	0	0	0	0	0	0	0	1	9468	1103	39	1		1	MEIS2	15	37388529	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2114962	37388529	65142863	1162	40043											
MEIS2	4212	broad.mit.edu	37	chr15	37390178	37390178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagtttacccatagatcgCgtccttgtcccgcttcaagg	9	13	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:37390178C>T	uc001zjr.2	-	2	1272	c.235G>A	c.(235-237)GCG>ACG	p.A79T	MEIS2_uc001zjl.2_Missense_Mutation_p.A66T|MEIS2_uc010ucj.1_Missense_Mutation_p.A66T|MEIS2_uc001zjm.2_5'UTR|MEIS2_uc001zjn.2_5'UTR|MEIS2_uc001zjo.2_Missense_Mutation_p.A79T|MEIS2_uc001zjp.2_Missense_Mutation_p.A79T|MEIS2_uc001zjs.2_Missense_Mutation_p.A79T|MEIS2_uc001zju.2_Missense_Mutation_p.A66T|MEIS2_uc001zjt.2_Missense_Mutation_p.A79T	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	79					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)	2		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CCATAGATCGCGTCCTTGTCC	0.607													T	37390178	C	T	37390178	3	4	49	1	0	0	0	0	1	0	0	0	9468	768	27	1	1305	1	MEIS2	15	37390178	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1649	37390178	65141214	1163	40044											
THBS1	7057	broad.mit.edu	37	chr15	39881276	39881276	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaatggcatccagtgcacaGatgttgatgaggtgaggaac	14	6	0	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:39881276G>T	uc001zkh.2	+	11	1941	c.1762G>T	c.(1762-1764)GAT>TAT	p.D588Y	THBS1_uc010bbi.2_Missense_Mutation_p.D60Y	NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	588	EGF-like 2; calcium-binding (Potential).				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CCAGTGCACAGATGTTGATGA	0.517													T	39881276	G	T	39881276	3	4	49	1	0	0	0	0	1	0	0	0	15850	942	33	5	1800	5	THBS1	15	39881276	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2491098	39881276	62650116	1164	40045											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42126983	42126983	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctacctggacaaacccccaaCtccgctccacttctaccggg	6	19	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:42126983C>G	uc001zoo.3	+	2	150	c.110C>G	c.(109-111)ACT>AGT	p.T37S	JMJD7-PLA2G4B_uc010bcm.1_RNA|JMJD7-PLA2G4B_uc001zom.2_Intron|JMJD7-PLA2G4B_uc001zon.2_Missense_Mutation_p.T37S|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.T37S|JMJD7-PLA2G4B_uc001zop.1_5'UTR|JMJD7-PLA2G4B_uc001zoq.3_5'Flank	NM_005090	NP_005081	P0C869	PA24B_HUMAN	JMJD7-PLA2G4B protein	Error:Variant_position_missing_in_P0C869_after_alignment					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						AAACCCCCAACTCCGCTCCAC	0.617													G	42126983	C	G	42126983	3	3	49	1	0	0	0	0	1	0	0	0	7955	565	20	5	116	5	JMJD7-PLA2G4B	15	42126983	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2245707	42126983	60404409	1165	40046											
VPS39	23339	broad.mit.edu	37	chr15	42492117	42492119	+	In_Frame_Del	DEL	AGA	AGA	-													cgtccttccgaatcctatagAgaagaagatgtccttgtttg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:42492116_42492118GAGA>G	uc001zpd.3	-	1	266_268	c.115_117TCTC>C	c.(115-117)ctc>C	p.L39del	VPS39_uc001zpc.3_In_Frame_Del_p.L39del|MIR627_uc021sjq.1_5'Flank	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	39	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GAATCCTATAGAGAAGAAGATGT	0.36													-	42492119	AGA	-	42492117	7	5	49	1	0	1	0	1	0	0	0	0	17206	304	11	0	2607	0	VPS39	15	42492117	In_Frame_Del	DEL	AGA	TCGA-BR-7707-01A-11D-2053-08	365134	42492117	60039275	1166	40047											
CDAN1	146059	broad.mit.edu	37	chr15	43020419	43020419	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tacggctgccggggtctcctCtggaagcagcgcccgcacag	14	15	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:43020419C>A	uc001zql.2	-	21	2968	c.2851G>T	c.(2851-2853)GAG>TAG	p.E951*	CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Nonsense_Mutation_p.E277*	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	951						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGGGTCTCCTCTGGAAGCAGC	0.627													A	43020419	C	A	43020419	4	1	49	1	0	0	0	0	0	1	0	0	3054	922	32	5	864	5	CDAN1	15	43020419	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	528302	43020419	59510973	1167	40048											
TGM7	116179	broad.mit.edu	37	chr15	43585733	43585733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagaagggctggccgcggCgcacagtgagccgcttgacg	18	11	0	3	rs150218635	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:43585733C>T	uc001zrf.1	-	2	112	c.107G>A	c.(106-108)CGC>CAC	p.R36H		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	36					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CTGGCCGCGGCGCACAGTGAG	0.617													T	43585733	C	T	43585733	3	4	49	1	0	0	0	0	1	0	0	0	15832	768	27	1	2073	1	TGM7	15	43585733	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	565314	43585733	58945659	1168	40049											
STRC	161497	broad.mit.edu	37	chr15	43893734	43893735	+	Frame_Shift_Ins	INS	-	-	G													tgctcaggacgaaatccccgINSggggggaccccacaactagg					rs74643365	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:43893733_43893734C>CG	uc001zsf.3	-	23	4639_4640	c.4561_4562G>CG	c.(4561-4563)cggfs	p.R1521fs	STRC_uc010bdl.3_Frame_Shift_Ins_p.R748fs|STRC_uc001zse.3_Frame_Shift_Ins_p.R39fs	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1521					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ACGAAATCCCCGGGGGGGACCC	0.53													G	43893735	-	G	43893734	7	5	49	1	0	1	1	0	0	0	0	0	15327	1115	39	0	790	0	STRC	15	43893734	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	308001	43893734	58637658	1169	40050											
B2M	567	broad.mit.edu	37	chr15	45003812	45003812	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctggaggctatccagcGtgagtctctcctaccctccc	10	16	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:45003812G>A	uc001zuc.2	+	1	127	c.67_splice	c.e1+1	p.R23_splice	B2M_uc010uek.1_Splice_Site_p.R23_splice|B2M_uc010bdx.1_Splice_Site_p.R23_splice	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			ovary(2)|skin(1)	3		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GCTATCCAGCGTGAGTCTCTC	0.617													A	45003812	G	A	45003812	5	1	49	1	0	0	0	0	0	0	1	0	1244	1159	40	1	70	1	B2M	15	45003812	Splice_Site	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1110078	45003812	57527580	1170	40051											
DUOX2	50506	broad.mit.edu	37	chr15	45392026	45392026	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgctggccgccgtgcctcgTgacaggatgatgcccacgag	14	14	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:45392026T>C	uc010bea.2	-	25	3452	c.3249A>G	c.(3247-3249)TCA>TCG	p.S1083S	DUOX2_uc001zun.2_Silent_p.S1083S	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1083	Interaction with TXNDC11 (By similarity).|Helical; (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCGTGCCTCGTGACAGGATGA	0.572													C	45392026	T	C	45392026	2	2	49	1	0	0	0	0	0	0	0	1	4801	1683	59	3		3	DUOX2	15	45392026	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	388214	45392026	57139366	1171	40052											
SLC30A4	7782	broad.mit.edu	37	chr15	45814242	45814243	+	Frame_Shift_Ins	INS	-	-	TC													cacctttctctgcttcagtaINStctctctctgtttgctgcag							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:45814242_45814243insTC	uc001zvj.2	-	2	622_623	c.310_311insGA	c.(310-312)ATAfs	p.I104fs	C15orf21_uc010beg.1_Intron|C15orf21_uc010beh.1_Intron|C15orf21_uc010bei.1_Intron|C15orf21_uc010bej.1_Intron|C15orf21_uc001zvm.1_Intron|C15orf21_uc001zvn.1_Intron	NM_013309	NP_037441	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter),	104	Cytoplasmic (Potential).				regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity				0		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		CTGCTTCAGTATCTCTCTCTGT	0.475													TC	45814243	-	TC	45814242	7	5	49	1	0	1	1	0	0	0	0	0	14557	449	16	0	1006	0	SLC30A4	15	45814242	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	422216	45814242	56717150	1172	40053	135	2									
SLC30A4	7782	broad.mit.edu	37	chr15	45814243	45814244	+	Frame_Shift_Ins	INS	-	-	TC													acctttctctgcttcagtatINSctctctctgtttgctgcagt							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:45814242_45814243A>ATC	uc001zvj.3	-	1	622_623	c.310_311T>GAT	c.(310-312)atafs	p.I104fs	HMGN2P46_uc010beg.1_Intron|HMGN2P46_uc010beh.1_Intron|HMGN2P46_uc010bei.1_Intron|HMGN2P46_uc010bej.1_Intron|HMGN2P46_uc001zvn.1_Intron|HMGN2P46_uc001zvm.1_Intron	NM_013309	NP_037441	O14863	ZNT4_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 4 (SLC30A4), mRNA.	104					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		CTGCTTCAGTATCTCTCTCTGT	0.475													TC	45814244	-	TC	45814243	7	5	49	1	0	1	1	0	0	0	0	0	14557	1435	50	0	1007	0	SLC30A4	15	45814243	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	1	45814243	56717149	1173	40054	135	2									
GLDN	342035	broad.mit.edu	37	chr15	51692688	51692688	+	Frame_Shift_Del	DEL	T	T	-													cggatttgggtgacagagcaTttttcaggtacttgcactcg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:51692688delT	uc002aba.2	+	8	1189	c.1020delT	c.(1018-1020)CATfs	p.H340fs	GLDN_uc002abb.2_Frame_Shift_Del_p.H216fs	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	340	Extracellular (Potential).|Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TGACAGAGCATTTTTCAGGTA	0.448													-	51692688	T	-	51692688	7	5	49	1	0	1	0	1	0	0	0	0	6434	1490	52	0	1050	0	GLDN	15	51692688	Frame_Shift_Del	DEL	T	TCGA-BR-7707-01A-11D-2053-08	5878445	51692688	50838704	1174	40055											
DMXL2	23312	broad.mit.edu	37	chr15	51773773	51773773	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcaaaggatgagttcgaaGgtagttataaaaactaaatg	11	3	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:51773773G>T	uc002abf.2	-	24	5755	c.5530C>A	c.(5530-5532)CTT>ATT	p.L1844I	DMXL2_uc002abd.2_5'UTR|DMXL2_uc010ufy.1_Missense_Mutation_p.L1844I|DMXL2_uc010bfa.2_Missense_Mutation_p.L1208I	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1844						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		TGAGTTCGAAGGTAGTTATAA	0.348													T	51773773	G	T	51773773	3	4	49	1	0	0	0	0	1	0	0	0	4595	1000	35	5	3663	5	DMXL2	15	51773773	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	81085	51773773	50757619	1175	40056											
KIAA1370	56204	broad.mit.edu	37	chr15	52897418	52897418	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaattatgttttcgccacAcatttgaatgtttcagtgta	7	6	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:52897418A>G	uc002acg.3	-	7	2525	c.2372T>C	c.(2371-2373)GTG>GCG	p.V791A	KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.V703A|KIAA1370_uc010ugf.1_Missense_Mutation_p.V798A	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	791											0				all cancers(107;0.0803)		TTTTCGCCACACATTTGAATG	0.333													G	52897418	A	G	52897418	3	3	49	1	0	0	0	0	1	0	0	0	8226	159	6	3	886	3	KIAA1370	15	52897418	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1123645	52897418	49633974	1176	40057											
WDR72	256764	broad.mit.edu	37	chr15	53994441	53994441	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagatcacacatgagtccaGgtccccagacaacatccaac	6	15	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:53994441G>T	uc002acj.2	-	12	1501	c.1459C>A	c.(1459-1461)CTG>ATG	p.L487M	WDR72_uc010bfi.1_Missense_Mutation_p.L487M	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	487	WD 6.							p.L487L(1)		lung(1)|skin(1)	2				all cancers(107;0.0511)		CATGAGTCCAGGTCCCCAGAC	0.398													T	53994441	G	T	53994441	3	4	49	1	0	0	0	0	1	0	0	0	17319	991	35	5	1885	5	WDR72	15	53994441	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1097023	53994441	48536951	1177	40058											
PIGB	9488	broad.mit.edu	37	chr15	55621922	55621922	+	Splice_Site	DEL	T	T	-													tgctctgtactttttcttagTttttttgccagttgtgctcc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:55621921_55621921GT>G	uc002act.3	+	5	839	c.523_splice	c.e5-1	p.F175_splice	PIGB_uc010ugg.2_Splice_Site	NM_004855	NP_004846	Q92521	PIGB_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA.	175					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTTTTTCTTAGTTTTTTTGCC	0.343													-	55621922	T	-	55621922	8	5	49	1	0	1	0	1	0	0	1	0	11885	1739	60	0	541	0	PIGB	15	55621922	Splice_Site	DEL	T	TCGA-BR-7707-01A-11D-2053-08	1627481	55621922	46909470	1178	40059											
ZNF280D	54816	broad.mit.edu	37	chr15	56959098	56959098	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttttagtccttggaggtgaGagctgaagggtagaagcact	14	5	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:56959098G>T	uc002adu.2	-	15	1849	c.1632C>A	c.(1630-1632)CTC>CTA	p.L544L	ZNF280D_uc002adv.2_Silent_p.L531L|ZNF280D_uc010bfq.2_Silent_p.L544L|ZNF280D_uc002adw.1_Silent_p.L572L|ZNF280D_uc010bfr.1_RNA|ZNF280D_uc010bfp.2_RNA	NM_017661	NP_060131	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	544				L -> P (in Ref. 3; BAA90940).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TTGGAGGTGAGAGCTGAAGGG	0.383													T	56959098	G	T	56959098	2	4	49	1	0	0	0	0	0	0	0	1	17814	929	33	5		5	ZNF280D	15	56959098	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1337176	56959098	45572294	1179	40060											
HERC1	8925	broad.mit.edu	37	chr15	63953190	63953190	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttcatacacactgtcttGcttgccaattagatctggag	7	11	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:63953190G>A	uc002amp.2	-	46	9353	c.9205C>T	c.(9205-9207)CAA>TAA	p.Q3069*		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3069					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						ACACTGTCTTGCTTGCCAATT	0.338													A	63953190	G	A	63953190	4	1	49	1	0	0	0	0	0	1	0	0	7057	1328	46	2	5512	2	HERC1	15	63953190	Nonsense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	6994092	63953190	38578202	1180	40061											
RBPMS2	348093	broad.mit.edu	37	chr15	65040633	65040633	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacctgagcgtggagggcGgcggcagcggcagtggcagt	19	10	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:65040633G>A	uc002anq.2	-	6	804	c.552C>T	c.(550-552)GCC>GCT	p.A184A		NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	184							nucleic acid binding|nucleotide binding				0						CGTGGAGGGCGGCGGCAGCGG	0.637													A	65040633	G	A	65040633	2	1	49	1	0	0	0	0	0	0	0	1	13164	1103	39	1		1	RBPMS2	15	65040633	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1087443	65040633	37490759	1181	40062											
IGDCC4	57722	broad.mit.edu	37	chr15	65678319	65678319	+	Frame_Shift_Del	DEL	G	G	-													tcatgggcagctggggggctGggggggccaagccgagctct							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:65678319delG	uc002aou.1	-	18	3240	c.3030delC	c.(3028-3030)CCCfs	p.P1010fs	IGDCC4_uc002aot.1_Frame_Shift_Del_p.P598fs	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	1010	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						CTGGGGGGCTGGGGGGGCCAA	0.662											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	65678319	G	-	65678319	7	5	49	1	0	1	0	1	0	0	0	0	7569	1335	47	0	734	0	IGDCC4	15	65678319	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	637686	65678319	36853073	1182	40063											
DENND4A	10260	broad.mit.edu	37	chr15	66030118	66030119	+	Frame_Shift_Ins	INS	-	-	A													agaaacttcctgaatgcatcINSaaaaaaaggccagtgagaaa							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:66030118_66030119insA	uc002aph.2	-	7	1344_1345	c.966_967insT	c.(964-969)TTTGATfs	p.F322fs	DENND4A_uc002api.2_Frame_Shift_Ins_p.F322fs|DENND4A_uc002apj.3_Frame_Shift_Ins_p.F322fs|DENND4A_uc010ujj.1_Frame_Shift_Ins_p.F322fs	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	322_323	DENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						CTGAATGCATCAAAAAAAGGCC	0.381													A	66030119	-	A	66030118	7	5	49	1	0	1	1	0	0	0	0	0	4433	826	29	0	4861	0	DENND4A	15	66030118	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	351799	66030118	36501274	1183	40064											
UACA	55075	broad.mit.edu	37	chr15	70960242	70960242	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctcatctttgcctcgtgCtctgccaggctgatgtactc	10	13	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:70960242C>T	uc002asr.2	-	16	2885	c.2781G>A	c.(2779-2781)GAG>GAA	p.E927E	UACA_uc010uke.1_Silent_p.E818E|UACA_uc002asq.2_Silent_p.E914E|UACA_uc010bin.1_Silent_p.E902E	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	927	Potential.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						TTGCCTCGTGCTCTGCCAGGC	0.388													T	70960242	C	T	70960242	2	4	49	1	0	0	0	0	0	0	0	1	16821	796	28	2		2	UACA	15	70960242	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	4930124	70960242	31571150	1184	40065											
PKM2	5315	broad.mit.edu	37	chr15	72502688	72502688	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctccgcagaatactcacGcccttgatgagcccagttcg	9	15	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:72502688G>A	uc002atx.1	-	4	619	c.378C>T	c.(376-378)GGC>GGT	p.G126G	PKM2_uc002att.1_5'Flank|PKM2_uc002atu.1_5'Flank|PKM2_uc010bit.1_Silent_p.G131G|PKM2_uc010uki.1_Silent_p.G200G|PKM2_uc002atv.1_Silent_p.G161G|PKM2_uc002atw.1_Silent_p.G126G|PKM2_uc002aty.1_Silent_p.G126G|PKM2_uc010ukj.1_Silent_p.G111G|PKM2_uc010ukk.1_Intron|PKM2_uc010biu.1_Silent_p.G147G|PKM2_uc002atz.1_RNA	NM_182471	NP_872271	P14618	KPYM_HUMAN	pyruvate kinase, muscle isoform M1	126					glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)	1					Pyruvic acid(DB00119)	GAATACTCACGCCCTTGATGA	0.557													A	72502688	G	A	72502688	2	1	49	1	0	0	0	0	0	0	0	1	11977	1101	38	1		1	PKM2	15	72502688	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1542446	72502688	30028704	1185	40066											
ISLR2	57611	broad.mit.edu	37	chr15	74425583	74425583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaccggctgcgtacgctggCgcctggcaccttcgacgcgc	13	17	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:74425583C>T	uc002axd.2	+	4	1257	c.488C>T	c.(487-489)GCG>GTG	p.A163V	ISLR2_uc002axe.2_Missense_Mutation_p.A163V|ISLR2_uc010bjg.2_Missense_Mutation_p.A163V|ISLR2_uc010bjf.2_Missense_Mutation_p.A163V	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	163	Extracellular (Potential).|LRR 5.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						CGTACGCTGGCGCCTGGCACC	0.652													T	74425583	C	T	74425583	3	4	49	1	0	0	0	0	1	0	0	0	7859	768	27	1	490	1	ISLR2	15	74425583	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1922895	74425583	28105809	1186	40067											
LMAN1L	79748	broad.mit.edu	37	chr15	75117889	75117889	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtcctgcaccacacacCcccagggccctggggattct	11	17	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:75117889C>A	uc002ayt.1	+	14	1526	c.1524C>A	c.(1522-1524)ACC>ACA	p.T508T	LMAN1L_uc010bke.1_Silent_p.T496T|CPLX3_uc002ayu.1_5'Flank	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like precursor	508	Cytoplasmic (Potential).					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0						CACCACACACCCCCAGGGCCC	0.612													A	75117889	C	A	75117889	2	1	49	1	0	0	0	0	0	0	0	1	8837	610	22	5		5	LMAN1L	15	75117889	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	692306	75117889	27413503	1187	40068											
PTPN9	5780	broad.mit.edu	37	chr15	75763086	75763086	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctccacgcctagattggTcactgtgaggaagccaaatc	10	11	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:75763086T>C	uc002bal.2	-	11	1802	c.1294A>G	c.(1294-1296)ACC>GCC	p.T432A		NM_002833	NP_002824	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type	432	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			lung(1)|skin(1)	2						CCTAGATTGGTCACTGTGAGG	0.438													C	75763086	T	C	75763086	3	2	49	1	0	0	0	0	1	0	0	0	12794	1667	58	3	499	3	PTPN9	15	75763086	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	645197	75763086	26768306	1188	40069											
SNUPN	10073	broad.mit.edu	37	chr15	75890977	75890977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaccaagggagtgcttcCggggctgtagtgggtctgtt	16	10	1	0	rs138384328	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:75890977C>T	uc002ban.2	-	9	895	c.805G>A	c.(805-807)GGA>AGA	p.G269R	SNUPN_uc002bao.2_Missense_Mutation_p.G269R|SNUPN_uc002bap.2_Missense_Mutation_p.G311R|SNUPN_uc002baq.2_Missense_Mutation_p.G269R|SNUPN_uc002bar.2_Missense_Mutation_p.G269R|SNUPN_uc002bas.2_Missense_Mutation_p.G269R	NM_005701	NP_005692	O95149	SPN1_HUMAN	snurportin 1	269	Necessary for binding to the m3G-cap structure.				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			pancreas(1)	1						GGAGTGCTTCCGGGGCTGTAG	0.552													T	75890977	C	T	75890977	3	4	49	1	0	0	0	0	1	0	0	0	14877	661	23	1	281	1	SNUPN	15	75890977	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	127891	75890977	26640415	1189	40070											
MORF4L1	10933	broad.mit.edu	37	chr15	79170560	79170560	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctccctttacaggtgagCgagtgctgtgctttcatggg	12	9	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:79170560C>T	uc002bel.2	+	2	234	c.46C>T	c.(46-48)CGA>TGA	p.R16*	MORF4L1_uc010bli.1_Nonsense_Mutation_p.R16*|MORF4L1_uc010blj.1_Nonsense_Mutation_p.R16*|MORF4L1_uc002bem.2_Nonsense_Mutation_p.R16*|MORF4L1_uc010une.1_5'UTR	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN	MORF-related gene 15 isoform 2	16					double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding				0						TACAGGTGAGCGAGTGCTGTG	0.358													T	79170560	C	T	79170560	4	4	49	1	0	0	0	0	0	1	0	0	9706	760	27	1	52	1	MORF4L1	15	79170560	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3279583	79170560	23360832	1190	40071											
WHAMM	123720	broad.mit.edu	37	chr15	83481903	83481903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggtagcattaatgaacGtttaccaagaggaagatgaa	10	6	0	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:83481903G>A	uc002bje.2	+	2	1164	c.658G>A	c.(658-660)GTT>ATT	p.V220I		NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi	220						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding				0						ATTAATGAACGTTTACCAAGA	0.408													A	83481903	G	A	83481903	3	1	49	1	0	0	0	0	1	0	0	0	17358	1145	40	1	664	1	WHAMM	15	83481903	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4311343	83481903	19049489	1191	40072											
PDE8A	5151	broad.mit.edu	37	chr15	85634368	85634368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctataaatgaaaaaaagGctgacttgctcgatactata	7	7	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:85634368G>A	uc002blh.2	+	8	997	c.808G>A	c.(808-810)GCT>ACT	p.A270T	PDE8A_uc002bli.2_Intron|PDE8A_uc010bnc.2_Missense_Mutation_p.A23T|PDE8A_uc010bnd.2_Missense_Mutation_p.A23T|PDE8A_uc002blj.2_Intron|PDE8A_uc002blk.2_Intron	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	270	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TGAAAAAAAGGCTGACTTGCT	0.393													A	85634368	G	A	85634368	3	1	49	1	0	0	0	0	1	0	0	0	11653	1203	42	2	838	2	PDE8A	15	85634368	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2152465	85634368	16897024	1192	40073											
AGBL1	123624	broad.mit.edu	37	chr15	86813174	86813174	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtatgacttgctggtcaaCgcagatgtgaatagcaccca	11	9	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:86813174C>T	uc002blz.1	+	13	1805	c.1725C>T	c.(1723-1725)AAC>AAT	p.N575N	AGBL1_uc002bma.1_Silent_p.N306N|AGBL1_uc002bmb.1_Silent_p.N269N	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	575					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						TGCTGGTCAACGCAGATGTGA	0.473													T	86813174	C	T	86813174	2	4	49	1	0	0	0	0	0	0	0	1	375	535	19	1		1	AGBL1	15	86813174	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1178806	86813174	15718218	1193	40074											
SV2B	9899	broad.mit.edu	37	chr15	91835608	91835608	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcttttacagagcaacagcCttcggcattctcaatggatt	7	11	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:91835608C>A	uc002bqv.2	+	12	2269	c.1878C>A	c.(1876-1878)GCC>GCA	p.A626A	SV2B_uc010uqv.1_Silent_p.A475A|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	626	Cytoplasmic (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GAGCAACAGCCTTCGGCATTC	0.443													A	91835608	C	A	91835608	2	1	49	1	0	0	0	0	0	0	0	1	15415	668	24	5		5	SV2B	15	91835608	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	5022434	91835608	10695784	1194	40075											
PCSK6	5046	broad.mit.edu	37	chr15	101971538	101971538	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacttacataatttggggccAggtcagggtgatttctctct	11	8	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:101971538A>G	uc002bwy.2	-	5	958	c.644T>C	c.(643-645)CTG>CCG	p.L215P	PCSK6_uc010bpd.2_Missense_Mutation_p.L85P|PCSK6_uc010bpe.2_Missense_Mutation_p.L215P|PCSK6_uc002bxa.2_Missense_Mutation_p.L215P|PCSK6_uc002bxb.2_Missense_Mutation_p.L215P|PCSK6_uc002bxc.1_Missense_Mutation_p.L215P|PCSK6_uc002bxd.1_Missense_Mutation_p.L215P|PCSK6_uc002bxe.2_Missense_Mutation_p.L215P|PCSK6_uc002bxg.1_Missense_Mutation_p.L215P	NM_002570	NP_002561	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	215	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			pancreas(2)	2	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATTTGGGGCCAGGTCAGGGTG	0.448													G	101971538	A	G	101971538	3	3	49	1	0	0	0	0	1	0	0	0	11604	188	7	3	2820	3	PCSK6	15	101971538	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	10135930	101971538	559854	1195	40076											
LUC7L	55692	broad.mit.edu	37	chr16	258086	258086	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaagcatacctttgcagaAacttccgcactgatttcctc	5	15	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:258086A>G	uc002cgc.1	-	4	468	c.357T>C	c.(355-357)GTT>GTC	p.V119V	LUC7L_uc002cga.1_Silent_p.V119V|LUC7L_uc002cgd.1_RNA|LUC7L_uc002cge.1_Silent_p.V119V|LUC7L_uc002cgb.1_Silent_p.V33V	NM_201412	NP_958815	Q9NQ29	LUC7L_HUMAN	LUC7-like isoform b	119	Potential.						metal ion binding			central_nervous_system(1)	1		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CCTTTGCAGAAACTTCCGCAC	0.403													G	258086	A	G	258086	2	3	49	1	0	0	0	0	0	0	0	1	9082	1	1	3		3	LUC7L	16	258086	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08		258086	90096667	1196	40077											
RAB40C	57799	broad.mit.edu	37	chr16	676075	676075	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcacggagctatcccgcatCgtgctcatgcggcacggcat	11	14	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:676075C>T	uc002chr.2	+	5	635	c.519C>T	c.(517-519)ATC>ATT	p.I173I	RAB40C_uc002chq.2_Silent_p.I154I	NM_021168	NP_066991	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	173					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0		Hepatocellular(780;0.0218)				TATCCCGCATCGTGCTCATGC	0.642													T	676075	C	T	676075	2	4	49	1	0	0	0	0	0	0	0	1	12942	874	31	1		1	RAB40C	16	676075	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	417989	676075	89678678	1197	40078											
WDR90	197335	broad.mit.edu	37	chr16	702537	702537	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggccacggcaccagacaggTgaggctcctgcggctgtgtc	16	13	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:702537T>C	uc002cii.1	+	10	1176	c.1122_splice	c.e10+2	p.Q374_splice	WDR90_uc002cig.1_Splice_Site_p.Q374_splice|WDR90_uc002cih.1_Splice_Site_p.Q375_splice|WDR90_uc002cij.1_Splice_Site|WDR90_uc002cik.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90											ovary(1)	1		Hepatocellular(780;0.0218)				ACCAGACAGGTGAGGCTCCTG	0.622													C	702537	T	C	702537	5	2	49	1	0	0	0	0	0	0	1	0	17334	1710	59	3	1162	3	WDR90	16	702537	Splice_Site	SNP	T	TCGA-BR-7707-01A-11D-2053-08	26462	702537	89652216	1198	40079											
WDR90	197335	broad.mit.edu	37	chr16	715686	715686	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcttcccccaggtgaacgAggtggtcttcagccccgggg	15	14	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:715686A>G	uc002cii.1	+	35	4373	c.4319A>G	c.(4318-4320)GAG>GGG	p.E1440G	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Missense_Mutation_p.E55G|WDR90_uc010uul.1_Missense_Mutation_p.E39G|WDR90_uc002cio.1_Missense_Mutation_p.E39G|WDR90_uc010bqx.1_Missense_Mutation_p.E39G|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1440	WD 17.									ovary(1)	1		Hepatocellular(780;0.0218)				CAGGTGAACGAGGTGGTCTTC	0.652													G	715686	A	G	715686	3	3	49	1	0	0	0	0	1	0	0	0	17334	304	11	3	4457	3	WDR90	16	715686	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	13149	715686	89639067	1199	40080											
RHOT2	89941	broad.mit.edu	37	chr16	721704	721704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctccctgcaggatccacGtgccccccggctgcagcacg	12	19	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:721704G>A	uc002cip.2	+	12	944	c.877G>A	c.(877-879)GTG>ATG	p.V293M	RHOT2_uc002ciq.2_Missense_Mutation_p.V186M|RHOT2_uc010bqy.2_Missense_Mutation_p.V72M	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	ras homolog gene family, member T2	293	Mitochondrial intermembrane (Potential).				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			pancreas(1)	1		Hepatocellular(780;0.0218)				CAGGATCCACGTGCCCCCCGG	0.617													A	721704	G	A	721704	3	1	49	1	0	0	0	0	1	0	0	0	13344	1145	40	1	923	1	RHOT2	16	721704	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	6018	721704	89633049	1200	40081											
MSLN	10232	broad.mit.edu	37	chr16	815527	815527	+	Splice_Site	DEL	C	C	-													tgtgtcccgtgtctgcacagCcccccgtcgacatggtctgt							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:815526_815526GC>G	uc002cjw.2	+	9	816	c.705_splice	c.e9-1	p.G235_splice	MSLN_uc002cju.1_Splice_Site_p.G235_splice|MSLN_uc002cjt.1_Splice_Site_p.G235_splice|MSLN_uc010brd.1_Splice_Site_p.G234_splice|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	235					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TGTCTGCACAGCCCCCCGTCG	0.706													-	815527	C	-	815527	8	5	49	1	0	1	0	1	0	0	1	0	9881	753	26	0	735	0	MSLN	16	815527	Splice_Site	DEL	C	TCGA-BR-7707-01A-11D-2053-08	93823	815527	89539226	1201	40082											
SSTR5	6755	broad.mit.edu	37	chr16	1129314	1129314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacccgctgagctcggcccGctggcgccgcccgcgtgtgg	16	18	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:1129314G>A	uc002ckq.2	+	1	534	c.446G>A	c.(445-447)CGC>CAC	p.R149H	LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	NM_001053	NP_001044	P35346	SSR5_HUMAN	somatostatin receptor 5	149	Cytoplasmic (Potential).				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			lung(1)	1		Hepatocellular(780;0.00369)			Octreotide(DB00104)	AGCTCGGCCCGCTGGCGCCGC	0.682													A	1129314	G	A	1129314	3	1	49	1	0	0	0	0	1	0	0	0	15200	1087	38	1	448	1	SSTR5	16	1129314	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	313787	1129314	89225439	1202	40083											
IFT140	9742	broad.mit.edu	37	chr16	1652450	1652450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgtgtcaggggcatcGtgtgctgctccttgtcctgc	14	11	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:1652450G>A	uc002cmb.2	-	4	652	c.290C>T	c.(289-291)ACG>ATG	p.T97M		NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	97	WD 2.									ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)				CAGGGGCATCGTGTGCTGCTC	0.617													A	1652450	G	A	1652450	3	1	49	1	0	0	0	0	1	0	0	0	7556	1145	40	1	4210	1	IFT140	16	1652450	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	523136	1652450	88702303	1203	40084											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1818284	1818284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatgacagcagtgacagggCggccagcagcttcatcccct	12	14	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:1818284C>T	uc002cmk.2	+	30	3764	c.3644C>T	c.(3643-3645)GCG>GTG	p.A1215V	MAPK8IP3_uc002cml.2_Missense_Mutation_p.A1209V|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.A1216V	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	1215					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						AGTGACAGGGCGGCCAGCAGC	0.632													T	1818284	C	T	1818284	3	4	49	1	0	0	0	0	1	0	0	0	9286	768	27	1	3778	1	MAPK8IP3	16	1818284	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	165834	1818284	88536469	1204	40085											
ZNF598	90850	broad.mit.edu	37	chr16	2052681	2052681	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcggggtcaccctgcatgCgatgccgggccaggtccttg	14	14	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:2052681C>A	uc002cof.1	-	6	533	c.518G>T	c.(517-519)CGC>CTC	p.R173L	ZNF598_uc002coe.1_5'Flank	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	173						intracellular	zinc ion binding			lung(1)|breast(1)	2						ACCCTGCATGCGATGCCGGGC	0.617													A	2052681	C	A	2052681	3	1	49	1	0	0	0	0	1	0	0	0	18025	768	27	5	2232	5	ZNF598	16	2052681	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	234397	2052681	88302072	1205	40086											
CCNF	899	broad.mit.edu	37	chr16	2503467	2503467	+	Frame_Shift_Del	DEL	C	C	-													gtgacacaagacagccccgaCcccccgactttcctcagcac							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:2503466_2503466AC>A	uc002cqd.1	+	14	1731	c.1643_1643AC>A	c.(1642-1644)gacfs	p.D548fs	CCNF_uc002cqe.1_Frame_Shift_Del_p.D240fs	NM_001761	NP_001752	P41002	CCNF_HUMAN	Homo sapiens cyclin F (CCNF), mRNA.	548					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination	SCF ubiquitin ligase complex|centriole|nucleus	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GACAGCCCCGACCCCCCGACT	0.617													-	2503467	C	-	2503467	7	5	49	1	0	1	0	1	0	0	0	0	2922	506	18	0	1702	0	CCNF	16	2503467	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	450786	2503467	87851286	1206	40087											
SRRM2	23524	broad.mit.edu	37	chr16	2812472	2812472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagaagtggcaggtcacGctctagaaccccagctagac	12	12	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:2812472G>A	uc002crk.2	+	11	2492	c.1943G>A	c.(1942-1944)CGC>CAC	p.R648H	SRRM2_uc002crj.1_Missense_Mutation_p.R552H|SRRM2_uc002crl.1_Missense_Mutation_p.R648H|SRRM2_uc010bsu.1_Missense_Mutation_p.R552H	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	648	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GGCAGGTCACGCTCTAGAACC	0.607													A	2812472	G	A	2812472	3	1	49	1	0	0	0	0	1	0	0	0	15168	1087	38	1	1981	1	SRRM2	16	2812472	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	309005	2812472	87542281	1207	40088											
SRRM2	23524	broad.mit.edu	37	chr16	2813634	2813634	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgccctggatccctctctctCtgtgcaggagtaaaatctag	9	12	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:2813634C>G	uc002crk.2	+	11	3654	c.3105C>G	c.(3103-3105)CTC>CTG	p.L1035L	SRRM2_uc002crj.1_Silent_p.L939L|SRRM2_uc002crl.1_Silent_p.L1035L|SRRM2_uc010bsu.1_Silent_p.L939L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1035	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CCCTCTCTCTCTGTGCAGGAG	0.478													G	2813634	C	G	2813634	2	3	49	1	0	0	0	0	0	0	0	1	15168	900	32	5		5	SRRM2	16	2813634	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1162	2813634	87541119	1208	40089											
CLDN6	9074	broad.mit.edu	37	chr16	3065718	3065718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacacaggtggtacacttgGccccagcaaggtagaccagc	11	14	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:3065718G>A	uc002csu.3	-	2	365	c.305C>T	c.(304-306)GCC>GTC	p.A102V		NM_021195	NP_067018	P56747	CLD6_HUMAN	claudin 6	102	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						GGTACACTTGGCCCCAGCAAG	0.612													A	3065718	G	A	3065718	3	1	49	1	0	0	0	0	1	0	0	0	3489	1203	42	2	361	2	CLDN6	16	3065718	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	252084	3065718	87289035	1209	40090											
TIGD7	91151	broad.mit.edu	37	chr16	3350472	3350472	+	Frame_Shift_Del	DEL	T	T	-													agtccagaattaacttcttaTtttttttaatgtcataaaat							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:3350471_3350471AT>A	uc021tcc.1	-	0	144	c.144_144AT>T	c.(142-144)aatfs	p.N48fs	ZNF263_uc002cur.2_3'UTR|TIGD7_uc002cus.3_Frame_Shift_Del_p.N48fs	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	Homo sapiens tigger transposable element derived 7 (TIGD7), mRNA.	48	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TTAACTTCTTATTTTTTTTAA	0.363													-	3350472	T	-	3350472	7	5	49	1	0	1	0	1	0	0	0	0	15898	1493	52	0	1510	0	TIGD7	16	3350472	Frame_Shift_Del	DEL	T	TCGA-BR-7707-01A-11D-2053-08	284754	3350472	87004281	1210	40091											
ZNF597	146434	broad.mit.edu	37	chr16	3487176	3487176	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctctcctgaatgaattttctGatgcaaaactaggtatgaat	7	7	2	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:3487176G>A	uc002cvd.2	-	4	707	c.523C>T	c.(523-525)CAG>TAG	p.Q175*		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	zinc finger protein 597	175	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGAATTTTCTGATGCAAAACT	0.403													A	3487176	G	A	3487176	4	1	49	1	0	0	0	0	0	1	0	0	18024	1299	45	4	755	4	ZNF597	16	3487176	Nonsense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	136704	3487176	86867577	1211	40092											
BTBD12	84464	broad.mit.edu	37	chr16	3639789	3639789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgagtcaccgcctgcaCggccagcccgctcctgaggc	13	17	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:3639789C>T	uc002cvp.2	-	12	4477	c.3850G>A	c.(3850-3852)GTG>ATG	p.V1284M		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1284	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						ACCGCCTGCACGGCCAGCCCG	0.632								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				T	3639789	C	T	3639789	3	4	49	1	0	0	0	0	1	0	0	0	1540	536	19	1	1670	1	BTBD12	16	3639789	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	152613	3639789	86714964	1212	40093											
DNASE1	1773	broad.mit.edu	37	chr16	3705926	3705926	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtggggaagctgctggAcaacctcaatcagtgggtga	15	9	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:3705926A>G	uc002cvr.2	+	3	2331	c.224A>G	c.(223-225)GAC>GGC	p.D75G		NM_005223	NP_005214	P24855	DNAS1_HUMAN	deoxyribonuclease I precursor	75					apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity				0		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)	AAGCTGCTGGACAACCTCAAT	0.627								Direct_reversal_of_damage					G	3705926	A	G	3705926	3	3	49	1	0	0	0	0	1	0	0	0	4660	275	10	3	230	3	DNASE1	16	3705926	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	66137	3705926	86648827	1213	40094											
ADCY9	115	broad.mit.edu	37	chr16	4164856	4164856	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccgcgtcctgagacaggCgtcaagacctggaactgcgc	13	14	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:4164856C>T	uc002cvx.2	-	2	1127	c.588G>A	c.(586-588)ACG>ACA	p.T196T		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	196	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						CTGAGACAGGCGTCAAGACCT	0.617													T	4164856	C	T	4164856	2	4	49	1	0	0	0	0	0	0	0	1	301	755	27	1		1	ADCY9	16	4164856	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	458930	4164856	86189897	1214	40095											
GLYR1	84656	broad.mit.edu	37	chr16	4862229	4862230	+	Frame_Shift_Ins	INS	-	-	C													cgggggcttccagaaagcgcINSccccccctggacacaatcac							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:4862228_4862229G>GC	uc002cxx.4	-	12	1177_1178	c.1140_1141C>GC	c.(1138-1143)gggcgcfs	p.G380fs	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Frame_Shift_Ins_p.G294fs|GLYR1_uc002cya.2_Frame_Shift_Ins_p.G374fs|GLYR1_uc010uxv.1_Frame_Shift_Ins_p.G299fs	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	380					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	p.R381fs*15(2)|p.G379R(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCCAGAAAGCGCCCCCCCCTGG	0.574													C	4862230	-	C	4862229	7	5	49	1	0	1	1	0	0	0	0	0	6483	726	26	0	537	0	GLYR1	16	4862229	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	697373	4862229	85492524	1215	40096											
GLYR1	84656	broad.mit.edu	37	chr16	4871450	4871450	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggatggaggtggagccaGtttcctacggacaggaagca	15	9	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:4871450G>T	uc002cxx.3	-	9	774	c.737C>A	c.(736-738)ACT>AAT	p.T246N	GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Missense_Mutation_p.T160N|GLYR1_uc002cya.2_Missense_Mutation_p.T246N|GLYR1_uc010uxv.1_Missense_Mutation_p.T165N	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	246					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0						GGTGGAGCCAGTTTCCTACGG	0.522													T	4871450	G	T	4871450	3	4	49	1	0	0	0	0	1	0	0	0	6483	1029	36	5	956	5	GLYR1	16	4871450	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	9221	4871450	85483303	1216	40097											
NAGPA	51172	broad.mit.edu	37	chr16	5083687	5083687	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgggggaggcgcgcgcgCgcgcgtggatagggcagtag	21	11	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:5083687C>T	uc002cyg.2	-	2	150	c.129G>A	c.(127-129)GCG>GCA	p.A43A	ALG1_uc002cyj.2_5'Flank|NAGPA_uc002cyf.2_5'UTR|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_5'UTR|NAGPA_uc010uxx.1_Silent_p.A43A	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester	43	Lumenal (Potential).				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity				0					N-Acetyl-D-glucosamine(DB00141)	GGCGCGCGCGCGCGCGTGGAT	0.761													T	5083687	C	T	5083687	2	4	49	1	0	0	0	0	0	0	0	1	10144	755	27	1		1	NAGPA	16	5083687	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	212237	5083687	85271066	1217	40098											
ALG1	56052	broad.mit.edu	37	chr16	5130946	5130946	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgctcttctctgtgaaGgcaaagggcctctgagggag	14	9	4	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:5130946G>A	uc002cym.2	+	10	1003	c.962_splice	c.e10-1	p.G321_splice	ALG1_uc002cyj.2_Splice_Site_p.G210_splice|ALG1_uc002cyn.2_Splice_Site_p.G321_splice|ALG1_uc010bue.2_Splice_Site_p.G210_splice|ALG1_uc010uxy.1_Splice_Site_p.G210_splice	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	beta-1,4-mannosyltransferase						dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(90;0.0164)				TCTCTGTGAAGGCAAAGGGCC	0.612													A	5130946	G	A	5130946	5	1	49	1	0	0	0	0	0	0	1	0	510	1014	35	4	999	4	ALG1	16	5130946	Splice_Site	SNP	G	TCGA-BR-7707-01A-11D-2053-08	47259	5130946	85223807	1218	40099											
TMEM186	25880	broad.mit.edu	37	chr16	8889867	8889867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgctctctgtccaggatgCgtccatagcgcagggtgacg	13	12	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:8889867C>T	uc002cze.2	-	2	618	c.584G>A	c.(583-585)CGC>CAC	p.R195H	PMM2_uc002czf.3_5'Flank|PMM2_uc010uyf.1_5'Flank|PMM2_uc010uyg.1_5'Flank|PMM2_uc010uyh.1_5'Flank|PMM2_uc010buj.2_5'Flank|PMM2_uc010uyi.1_5'Flank|PMM2_uc010uye.1_5'Flank	NM_015421	NP_056236	Q96B77	TM186_HUMAN	transmembrane protein 186	195						integral to membrane|mitochondrion				ovary(1)	1						GTCCAGGATGCGTCCATAGCG	0.557													T	8889867	C	T	8889867	3	4	49	1	0	0	0	0	1	0	0	0	16105	768	27	1	61	1	TMEM186	16	8889867	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3758921	8889867	81464886	1219	40100											
TMEM186	25880	broad.mit.edu	37	chr16	8890042	8890042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacccgcagcatggtgcCagactcattcagatacagga	11	13	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:8890042C>T	uc002cze.2	-	2	443	c.409G>A	c.(409-411)GGC>AGC	p.G137S	PMM2_uc002czf.3_5'Flank|PMM2_uc010uyf.1_5'Flank|PMM2_uc010uyg.1_5'Flank|PMM2_uc010uyh.1_5'Flank|PMM2_uc010buj.2_5'Flank|PMM2_uc010uyi.1_5'Flank|PMM2_uc010uye.1_5'Flank	NM_015421	NP_056236	Q96B77	TM186_HUMAN	transmembrane protein 186	137						integral to membrane|mitochondrion				ovary(1)	1						AGCATGGTGCCAGACTCATTC	0.552													T	8890042	C	T	8890042	3	4	49	1	0	0	0	0	1	0	0	0	16105	594	21	4	236	4	TMEM186	16	8890042	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	175	8890042	81464711	1220	40101											
USP7	7874	broad.mit.edu	37	chr16	8988952	8988952	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctttgtggaaatgcgccActgtgacaagcatctcattc	8	12	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:8988952A>G	uc002czl.2	-	28	3174	c.2975T>C	c.(2974-2976)GTG>GCG	p.V992A	USP7_uc010uyk.1_Missense_Mutation_p.V893A|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.V893A|USP7_uc002czk.2_Missense_Mutation_p.V976A	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	992					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						GAAATGCGCCACTGTGACAAG	0.502													G	8988952	A	G	8988952	3	3	49	1	0	0	0	0	1	0	0	0	17085	159	6	3	349	3	USP7	16	8988952	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	98910	8988952	81365801	1221	40102											
ATF7IP2	80063	broad.mit.edu	37	chr16	10525021	10525021	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtggtgttgttcagatgccaGagtctacagtaaccagtacc	11	9	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:10525021G>A	uc002czu.2	+	3	771	c.544G>A	c.(544-546)GAG>AAG	p.E182K	ATF7IP2_uc002czv.2_Missense_Mutation_p.E182K|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.E182K|ATF7IP2_uc010uyq.1_RNA	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						TCAGATGCCAGAGTCTACAGT	0.428													A	10525021	G	A	10525021	3	1	49	1	0	0	0	0	1	0	0	0	1088	943	33	4	546	4	ATF7IP2	16	10525021	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1536069	10525021	79829732	1222	40103											
CIITA	4261	broad.mit.edu	37	chr16	11000842	11000842	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgcgttctgctcatccTagacggcttcgaggagctgg	13	12	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:11000842T>C	uc002dai.3	+	11	1626	c.1493T>C	c.(1492-1494)CTA>CCA	p.L498P	CIITA_uc002daj.3_Missense_Mutation_p.L499P|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.L498P|CIITA_uc002dah.2_Missense_Mutation_p.L450P|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	498	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						CTGCTCATCCTAGACGGCTTC	0.657			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								C	11000842	T	C	11000842	3	2	49	1	0	0	0	0	1	0	0	0	3428	1522	53	3	1535	3	CIITA	16	11000842	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	475821	11000842	79353911	1223	40104											
CIITA	4261	broad.mit.edu	37	chr16	11000938	11000938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccctccgggggctgctggCcggccttttccagaagaagc	13	15	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:11000938C>T	uc002dai.3	+	11	1722	c.1589C>T	c.(1588-1590)GCC>GTC	p.A530V	CIITA_uc002daj.3_Missense_Mutation_p.A531V|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.A530V|CIITA_uc002dah.2_Missense_Mutation_p.A482V|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	530	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						GGGCTGCTGGCCGGCCTTTTC	0.692			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								T	11000938	C	T	11000938	3	4	49	1	0	0	0	0	1	0	0	0	3428	739	26	2	1631	2	CIITA	16	11000938	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	96	11000938	79353815	1224	40105											
CIITA	4261	broad.mit.edu	37	chr16	11001305	11001306	+	Frame_Shift_Ins	INS	-	-	C													gccgtgcagccctcgacagcINSccccccggggccctggcaga							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:11001304_11001305G>GC	uc002daj.4	+	10	2091_2092	c.1958_1959G>GC	c.(1957-1959)agcfs	p.S653fs	CIITA_uc002dai.4_Frame_Shift_Ins_p.S652fs|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Frame_Shift_Ins_p.S652fs|CIITA_uc002dah.2_Frame_Shift_Ins_p.S604fs|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	652	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GCCCTCGACAGCCCCCCCGGGG	0.678			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								C	11001306	-	C	11001305	7	5	49	1	0	1	1	0	0	0	0	0	3428	738	26	0	1998	0	CIITA	16	11001305	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	367	11001305	79353448	1225	40106											
CIITA	4261	broad.mit.edu	37	chr16	11016335	11016335	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcggaggtgtcctcatgTggagacgctggcgtaagtcc	14	11	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:11016335T>C	uc002dai.3	+	18	3438	c.3305T>C	c.(3304-3306)GTG>GCG	p.V1102A	CIITA_uc002daj.3_Missense_Mutation_p.V1103A|CIITA_uc002dak.3_Missense_Mutation_p.V518A	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	1102					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						TGTCCTCATGTGGAGACGCTG	0.562			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								C	11016335	T	C	11016335	3	2	49	1	0	0	0	0	1	0	0	0	3428	1696	59	3	3375	3	CIITA	16	11016335	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	15030	11016335	79338418	1226	40107											
CLEC16A	23274	broad.mit.edu	37	chr16	11118742	11118742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgattaccatgccctgttcGtgctctgcctcctctatgcc	7	15	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:11118742G>A	uc002dao.2	+	13	1731	c.1501G>A	c.(1501-1503)GTG>ATG	p.V501M	CLEC16A_uc002dan.3_Missense_Mutation_p.V483M	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	501								p.0?(1)		ovary(1)|central_nervous_system(1)	2						TGCCCTGTTCGTGCTCTGCCT	0.547													A	11118742	G	A	11118742	3	1	49	1	0	0	0	0	1	0	0	0	3500	1145	40	1	1547	1	CLEC16A	16	11118742	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	102407	11118742	79236011	1227	40108											
TXNDC11	51061	broad.mit.edu	37	chr16	11773600	11773600	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttagccacattctggggGctggaagcagggtctgagtg	17	7	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:11773600G>A	uc010buu.1	-	13	2471	c.2409C>T	c.(2407-2409)AGC>AGT	p.S803S	TXNDC11_uc002dbg.1_Silent_p.S776S	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	803					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						CATTCTGGGGGCTGGAAGCAG	0.527													A	11773600	G	A	11773600	2	1	49	1	0	0	0	0	0	0	0	1	16789	1194	42	2		2	TXNDC11	16	11773600	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	654858	11773600	78581153	1228	40109											
ZC3H7A	29066	broad.mit.edu	37	chr16	11873209	11873209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagatttctcacgagagcaCgcaaatatacctaaaaaaaa	5	8	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:11873209C>T	uc002dbk.2	-	3	317	c.119G>A	c.(118-120)CGT>CAT	p.R40H	ZC3H7A_uc002dbl.2_Missense_Mutation_p.R40H|ZC3H7A_uc002dbm.1_Missense_Mutation_p.R40H	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	40						nucleus	nucleic acid binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						CACGAGAGCACGCAAATATAC	0.333													T	11873209	C	T	11873209	3	4	49	1	0	0	0	0	1	0	0	0	17569	536	19	1	2876	1	ZC3H7A	16	11873209	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	99609	11873209	78481544	1229	40110											
MKL2	57496	broad.mit.edu	37	chr16	14334332	14334332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccagaccatcctgcctgCaccattcaagtacggcgggg	10	15	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:14334332C>T	uc010uza.1	+	10	1225	c.1070C>T	c.(1069-1071)GCA>GTA	p.A357V	MKL2_uc002dcg.2_Missense_Mutation_p.A357V|MKL2_uc002dch.2_Missense_Mutation_p.A346V|MKL2_uc010uzb.1_Missense_Mutation_p.A306V	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	346					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5						ATCCTGCCTGCACCATTCAAG	0.502													T	14334332	C	T	14334332	3	4	49	1	0	0	0	0	1	0	0	0	9602	710	25	2	1100	2	MKL2	16	14334332	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2461123	14334332	76020421	1230	40111											
BFAR	51283	broad.mit.edu	37	chr16	14742310	14742310	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagacattcagcagaataAtgacatagtccaaagtcttg	8	7	2	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:14742310A>G	uc002dco.2	+	3	610	c.329A>G	c.(328-330)AAT>AGT	p.N110S	BFAR_uc002dcm.2_Missense_Mutation_p.N110S|BFAR_uc002dcn.2_Intron|BFAR_uc002dcp.2_Intron|BFAR_uc010uzh.1_Intron	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	110	Cytoplasmic (Potential).				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			ovary(1)|skin(1)	2						CAGCAGAATAATGACATAGTC	0.403													G	14742310	A	G	14742310	3	3	49	1	0	0	0	0	1	0	0	0	1414	101	4	3	335	3	BFAR	16	14742310	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	407978	14742310	75612443	1231	40112											
NTAN1	123803	broad.mit.edu	37	chr16	15133905	15133905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgctctgtaaatctctGcagtcttaatgttgacagct	9	8	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:15133905G>A	uc002ddd.2	-	8	565	c.560C>T	c.(559-561)GCA>GTA	p.A187V	PDXDC1_uc002ddc.2_Intron|NTAN1_uc010uzo.1_Missense_Mutation_p.A82V	NM_173474	NP_775745	Q96AB6	NTAN1_HUMAN	N-terminal Asn amidase	187						cytoplasm					0						GTAAATCTCTGCAGTCTTAAT	0.473													A	15133905	G	A	15133905	3	1	49	1	0	0	0	0	1	0	0	0	10695	1319	46	2	384	2	NTAN1	16	15133905	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	391595	15133905	75220848	1232	40113											
KIAA0430	9665	broad.mit.edu	37	chr16	15724194	15724194	+	Frame_Shift_Del	DEL	T	T	-													cgcaaacccacttactggcaTttttagtggtaacctggggg					rs35574149		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:15724193_15724193AT>A	uc002ddr.3	-	6	1727	c.1520_1520AT>T	c.(1519-1521)atgfs	p.M507fs	KIAA0430_uc002ddq.3_Frame_Shift_Del_p.M506fs|KIAA0430_uc010uzv.2_Frame_Shift_Del_p.M504fs|KIAA0430_uc010uzw.2_Frame_Shift_Del_p.M507fs	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	506						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ACTTACTGGCATTTTTAGTGG	0.468													-	15724194	T	-	15724194	7	5	49	1	0	1	0	1	0	0	0	0	8177	1493	52	0	3796	0	KIAA0430	16	15724194	Frame_Shift_Del	DEL	T	TCGA-BR-7707-01A-11D-2053-08	590289	15724194	74630559	1233	40114											
ABCC1	4363	broad.mit.edu	37	chr16	16108453	16108453	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagtgtgtgccctagccatcCtgagatccaaaattatgaca	8	10	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:16108453C>A	uc010bvi.2	+	4	632	c.457C>A	c.(457-459)CTG>ATG	p.L153M	ABCC1_uc010bvj.2_Missense_Mutation_p.L153M|ABCC1_uc010bvk.2_Missense_Mutation_p.L153M|ABCC1_uc010bvl.2_Missense_Mutation_p.L153M|ABCC1_uc010bvm.2_Missense_Mutation_p.L153M|ABCC1_uc002del.3_Missense_Mutation_p.L37M|ABCC1_uc010bvn.2_Missense_Mutation_p.L16M	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	153	Helical; Name=4.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCTAGCCATCCTGAGATCCAA	0.512													A	16108453	C	A	16108453	3	1	49	1	0	0	0	0	1	0	0	0	49	680	24	5	471	5	ABCC1	16	16108453	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	384259	16108453	74246300	1234	40115											
ARL6IP1	23204	broad.mit.edu	37	chr16	18806789	18806789	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaagcaaaaaaagtaccatCttaggtttttcttcctttag	5	8	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:18806789C>T	uc002dfl.1	-	4	474	c.405G>A	c.(403-405)AAG>AAA	p.K135K	ARL6IP1_uc010van.1_Silent_p.K106K|ARL6IP1_uc010bvz.1_Intron	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting	135	Helical; (Potential).					integral to membrane	protein binding				0						AAAGTACCATCTTAGGTTTTT	0.338													T	18806789	C	T	18806789	2	4	49	1	0	0	0	0	0	0	0	1	942	912	32	4		4	ARL6IP1	16	18806789	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2698336	18806789	71547964	1235	40116											
TMC5	79838	broad.mit.edu	37	chr16	19483534	19483534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccatagcctgctgtgcagCcgtttattacctggctgagt	12	11	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:19483534C>T	uc002dgc.3	+	11	2656	c.1907C>T	c.(1906-1908)GCC>GTC	p.A636V	TMC5_uc010vaq.1_Intron|TMC5_uc002dgb.3_Missense_Mutation_p.A636V|TMC5_uc010var.1_Missense_Mutation_p.A636V|TMC5_uc002dgd.1_Missense_Mutation_p.A390V|TMC5_uc002dge.3_Missense_Mutation_p.A390V|TMC5_uc002dgf.3_Missense_Mutation_p.A319V|TMC5_uc002dgg.3_Missense_Mutation_p.A277V	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	636	Helical; (Potential).					integral to membrane				skin(1)	1						TGCTGTGCAGCCGTTTATTAC	0.542													T	19483534	C	T	19483534	3	4	49	1	0	0	0	0	1	0	0	0	15985	739	26	2	2255	2	TMC5	16	19483534	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	676745	19483534	70871219	1236	40117											
IQCK	124152	broad.mit.edu	37	chr16	19745102	19745102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatttcaccatgatctcacGtacaccctgtcctcaagata	4	15	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:19745102G>A	uc002dgr.2	+	4	1028	c.329G>A	c.(328-330)CGT>CAT	p.R110H	IQCK_uc002dgs.2_RNA|IQCK_uc010vat.1_Missense_Mutation_p.R110H|IQCK_uc010bwc.2_RNA|IQCK_uc010vau.1_Missense_Mutation_p.R22H	NM_153208	NP_694940	Q8N0W5	IQCK_HUMAN	IQ motif containing K	110										skin(1)	1						ATGATCTCACGTACACCCTGT	0.438													A	19745102	G	A	19745102	3	1	49	1	0	0	0	0	1	0	0	0	7813	1145	40	1	339	1	IQCK	16	19745102	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	261568	19745102	70609651	1237	40118											
DNAH3	55567	broad.mit.edu	37	chr16	20966217	20966217	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcttttgccacatcaccgcCtttgcacagctttggaagaa	7	12	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:20966217C>A	uc010vbe.1	-	55	10989	c.10989G>T	c.(10987-10989)AAG>AAT	p.K3663N	DNAH3_uc010vbd.1_Missense_Mutation_p.K1098N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3663	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		ACATCACCGCCTTTGCACAGC	0.517													A	20966217	C	A	20966217	3	1	49	1	0	0	0	0	1	0	0	0	4603	680	24	5	1392	5	DNAH3	16	20966217	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1221115	20966217	69388536	1238	40119											
USP31	57478	broad.mit.edu	37	chr16	23080573	23080573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctgcgggtgtccgattcGtctttgaacacgccttccat	9	12	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:23080573G>A	uc002dll.2	-	16	2853	c.2853C>T	c.(2851-2853)GAC>GAT	p.D951D	USP31_uc002dlk.2_Silent_p.D223D|USP31_uc010vca.1_Silent_p.D254D|USP31_uc010bxm.2_Silent_p.D239D	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	951	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		TGTCCGATTCGTCTTTGAACA	0.557													A	23080573	G	A	23080573	2	1	49	1	0	0	0	0	0	0	0	1	17059	1136	40	1		1	USP31	16	23080573	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2114356	23080573	67274180	1239	40120											
USP31	57478	broad.mit.edu	37	chr16	23080800	23080800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggatggagaattggagcGcatctgcagcttagcagaca	14	8	1	2	rs149268440		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:23080800G>A	uc002dll.2	-	16	2626	c.2626C>T	c.(2626-2628)CGC>TGC	p.R876C	USP31_uc002dlk.2_Missense_Mutation_p.R148C|USP31_uc010vca.1_Missense_Mutation_p.R179C|USP31_uc010bxm.2_Missense_Mutation_p.R164C	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	876	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		GAATTGGAGCGCATCTGCAGC	0.517													A	23080800	G	A	23080800	3	1	49	1	0	0	0	0	1	0	0	0	17059	1087	38	1	1436	1	USP31	16	23080800	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	227	23080800	67273953	1240	40121											
ARHGAP17	55114	broad.mit.edu	37	chr16	24950745	24950745	+	Frame_Shift_Del	DEL	C	C	-													cggaagaggggacagtcccaCccccagagctgctttcagcc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:24950745delC	uc002dnb.2	-	17	1757	c.1664delG	c.(1663-1665)GGTfs	p.G555fs	ARHGAP17_uc002dmy.2_5'Flank|ARHGAP17_uc002dmz.2_Frame_Shift_Del_p.G79fs|ARHGAP17_uc002dna.2_Frame_Shift_Del_p.G282fs|ARHGAP17_uc002dnc.2_Intron|ARHGAP17_uc010vcf.1_Intron	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	555	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		GACAGTCCCACCCCCAGAGCT	0.687													-	24950745	C	-	24950745	7	5	49	1	0	1	0	1	0	0	0	0	867	507	18	0	997	0	ARHGAP17	16	24950745	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	1869945	24950745	65404008	1241	40122											
IL21R	50615	broad.mit.edu	37	chr16	27441381	27441381	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacgtctcttgcaggcccGtgggagtcagcatgccgcgt	14	12	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:27441381G>A	uc002doq.1	+	2	222	c.-11G>A	c.(-13--9)CCGTG>CCATG		IL21R_uc002dor.1_Translation_Start_Site|IL21R_uc002dos.1_Translation_Start_Site	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor						natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4						TTGCAGGCCCGTGGGAGTCAG	0.706			T	BCL6	NHL								A	27441381	G	A	27441381	1	1	49	1	0	0	0	0	0	0	0	0	7671	1160	40	1		1	IL21R	16	27441381	Translation_Start_Site	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2490636	27441381	62913372	1242	40123											
GTF3C1	2975	broad.mit.edu	37	chr16	27481581	27481581	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgaaaaggccaccatgtcGtttgtgggctcgttattatc	11	8	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:27481581G>A	uc002dov.1	-	31	4702	c.4662C>T	c.(4660-4662)AAC>AAT	p.N1554N	GTF3C1_uc002dou.2_Silent_p.N1554N	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1554						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CCACCATGTCGTTTGTGGGCT	0.542													A	27481581	G	A	27481581	2	1	49	1	0	0	0	0	0	0	0	1	6872	1136	40	1		1	GTF3C1	16	27481581	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	40200	27481581	62873172	1243	40124											
GSG1L	146395	broad.mit.edu	37	chr16	27895882	27895882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attgctggagtggaagagctCgagacacatgaggctgaagc	15	7	0	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:27895882C>T	uc002doz.2	-	3	560	c.475G>A	c.(475-477)GAG>AAG	p.E159K	GSG1L_uc010bya.1_Intron|GSG1L_uc010bxz.1_Missense_Mutation_p.E4K|GSG1L_uc002doy.2_Missense_Mutation_p.E4K	NM_001109763	NP_001103233	Q6UXU4	GSG1L_HUMAN	GSG1-like isoform 1	159						integral to membrane				ovary(1)	1						TGGAAGAGCTCGAGACACATG	0.592													T	27895882	C	T	27895882	3	4	49	1	0	0	0	0	1	0	0	0	6821	893	31	1	540	1	GSG1L	16	27895882	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	414301	27895882	62458871	1244	40125											
SPN	6693	broad.mit.edu	37	chr16	29675600	29675600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacttccaaaggcacctctgGaccccctgttaccatggcaa	8	15	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:29675600G>A	uc002dtm.2	+	2	687	c.551G>A	c.(550-552)GGA>GAA	p.G184E	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Missense_Mutation_p.G184E|SPN_uc010bzd.2_RNA	NM_001030288	NP_001025459	P16150	LEUK_HUMAN	sialophorin precursor	184	Extracellular (Potential).				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)	2						GGCACCTCTGGACCCCCTGTT	0.597													A	29675600	G	A	29675600	3	1	49	1	0	0	0	0	1	0	0	0	15072	1174	41	4	553	4	SPN	16	29675600	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1779718	29675600	60679153	1245	40126											
TAOK2	9344	broad.mit.edu	37	chr16	29996880	29996880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcggacctacaaacttcGcaaggaacagctgaaggagg	13	9	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:29996880G>A	uc002dva.1	+	14	2552	c.1769G>A	c.(1768-1770)CGC>CAC	p.R590H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.R590H|TAOK2_uc002dvc.1_Missense_Mutation_p.R590H|TAOK2_uc010bzm.1_Missense_Mutation_p.R597H|TAOK2_uc002dvd.1_Missense_Mutation_p.R417H	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	590	Potential.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						TACAAACTTCGCAAGGAACAG	0.642													A	29996880	G	A	29996880	3	1	49	1	0	0	0	0	1	0	0	0	15545	1087	38	1	1819	1	TAOK2	16	29996880	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	321280	29996880	60357873	1246	40127											
ITGAL	3683	broad.mit.edu	37	chr16	30532882	30532882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcccgaatggaatccctGcagaagactctgagcagctg	12	11	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:30532882G>A	uc002dyi.3	+	31	3585	c.3409G>A	c.(3409-3411)GCA>ACA	p.A1137T	ITGAL_uc002dyj.3_Missense_Mutation_p.A1053T|ITGAL_uc010vev.1_Missense_Mutation_p.A371T	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	1137	Cytoplasmic (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	TGGAATCCCTGCAGAAGACTC	0.542													A	30532882	G	A	30532882	3	1	49	1	0	0	0	0	1	0	0	0	7886	1319	46	2	3531	2	ITGAL	16	30532882	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	536002	30532882	59821871	1247	40128											
ARMC5	79798	broad.mit.edu	37	chr16	31473646	31473646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgaccttagccctcgtcCgtgccctcctggaactcagc	8	18	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:31473646C>T	uc002ecc.2	+	3	1307	c.778C>T	c.(778-780)CGT>TGT	p.R260C	ARMC5_uc010vfn.1_Missense_Mutation_p.R355C|ARMC5_uc010vfo.1_Missense_Mutation_p.R292C|ARMC5_uc002eca.3_Missense_Mutation_p.R260C|ARMC5_uc010vfp.1_Intron|ARMC5_uc002ecb.2_Missense_Mutation_p.R260C	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	260	ARM 3.						binding			pancreas(1)	1						AGCCCTCGTCCGTGCCCTCCT	0.687													T	31473646	C	T	31473646	3	4	49	1	0	0	0	0	1	0	0	0	954	652	23	1	788	1	ARMC5	16	31473646	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	940764	31473646	58881107	1248	40129											
ARMC5	79798	broad.mit.edu	37	chr16	31477726	31477726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgcctcccctttcttccGggccctgctgtcaggcagct	9	19	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:31477726G>A	uc002ecc.2	+	6	2853	c.2324G>A	c.(2323-2325)CGG>CAG	p.R775Q	ARMC5_uc010vfn.1_Missense_Mutation_p.R870Q|ARMC5_uc010vfo.1_Missense_Mutation_p.R807Q|ARMC5_uc002eca.3_3'UTR|ARMC5_uc010vfp.1_Missense_Mutation_p.R583Q|ARMC5_uc002ecb.2_3'UTR	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	775	BTB.						binding			pancreas(1)	1						CCTTTCTTCCGGGCCCTGCTG	0.667													A	31477726	G	A	31477726	3	1	49	1	0	0	0	0	1	0	0	0	954	1116	39	1	2660	1	ARMC5	16	31477726	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4080	31477726	58877027	1249	40130											
ABCC12	94160	broad.mit.edu	37	chr16	48139203	48139203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgatgtctgccagcaccgcGccgacctcacacatggtcct	9	18	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:48139203G>A	uc002efc.1	-	19	2866	c.2520C>T	c.(2518-2520)GGC>GGT	p.G840G	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	840	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				CCAGCACCGCGCCGACCTCAC	0.527													A	48139203	G	A	48139203	2	1	49	1	0	0	0	0	0	0	0	1	52	1074	38	1		1	ABCC12	16	48139203	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	16661477	48139203	42215550	1250	40131											
ABCC11	85320	broad.mit.edu	37	chr16	48261862	48261862	+	Frame_Shift_Del	DEL	G	G	-													gccagcattgtccaggggctGgggggcaggaaacctagtag							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:48261861_48261861TG>T	uc002eff.1	-	2	601	c.251_251CA>A	c.(250-252)cagfs	p.Q84fs	ABCC11_uc002efg.1_Frame_Shift_Del_p.Q84fs|ABCC11_uc002efh.1_Frame_Shift_Del_p.Q84fs|ABCC11_uc010vgl.1_Frame_Shift_Del_p.Q84fs	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	84						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.P83L(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GTCCAGGGGCTGGGGGGCAGG	0.498													-	48261862	G	-	48261862	7	5	49	1	0	1	0	1	0	0	0	0	51	1357	47	0	4006	0	ABCC11	16	48261862	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	122659	48261862	42092891	1251	40132											
HEATR3	55027	broad.mit.edu	37	chr16	50106523	50106523	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttcaatttagtgaatgcAgtagtagagcagtgtctata	9	7	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:50106523A>C	uc002efw.2	+	5	682	c.520A>C	c.(520-522)AGT>CGT	p.S174R	HEATR3_uc002efx.2_Missense_Mutation_p.S88R	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	174							binding			ovary(1)|skin(1)	2						TAGTGAATGCAGTAGTAGAGC	0.338													C	50106523	A	C	50106523	3	2	49	1	0	0	0	0	1	0	0	0	7029	188	7	5	538	5	HEATR3	16	50106523	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1844661	50106523	40248230	1252	40133											
RBL2	5934	broad.mit.edu	37	chr16	53524153	53524153	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaaagaatttgcccagaaAatcattctgccttattacgc	5	10	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:53524153A>C	uc002ehi.3	+	22	3479	c.3361A>C	c.(3361-3363)AAT>CAT	p.N1121H	RBL2_uc002ehj.2_Missense_Mutation_p.N831H|RBL2_uc010vgw.1_Missense_Mutation_p.N500H	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	1121					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						TTGCCCAGAAAATCATTCTGC	0.383													C	53524153	A	C	53524153	3	2	49	1	0	0	0	0	1	0	0	0	13110	14	1	5	3447	5	RBL2	16	53524153	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	3417630	53524153	36830600	1253	40134											
IRX6	79190	broad.mit.edu	37	chr16	55363085	55363085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcagtccccagagactccGcgtgcgacgagtcttcctgc	10	16	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:55363085G>A	uc002ehy.2	+	5	1728	c.1195G>A	c.(1195-1197)GCG>ACG	p.A399T	IRX6_uc002ehx.2_Missense_Mutation_p.A399T	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	399						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						CAGAGACTCCGCGTGCGACGA	0.642													A	55363085	G	A	55363085	3	1	49	1	0	0	0	0	1	0	0	0	7848	1087	38	1	1213	1	IRX6	16	55363085	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1838932	55363085	34991668	1254	40135											
IRX6	79190	broad.mit.edu	37	chr16	55363166	55363166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactaccgctgaactgtgcgCcgtgcccgcggaggagcgag	16	13	0	1	rs138532658		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:55363166C>T	uc002ehy.2	+	5	1809	c.1276C>T	c.(1276-1278)CCG>TCG	p.P426S	IRX6_uc002ehx.2_Missense_Mutation_p.P426S	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	426						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						GAACTGTGCGCCGTGCCCGCG	0.617													T	55363166	C	T	55363166	3	4	49	1	0	0	0	0	1	0	0	0	7848	739	26	2	1294	2	IRX6	16	55363166	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	81	55363166	34991587	1255	40136											
HERPUD1	9709	broad.mit.edu	37	chr16	56966259	56966259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaccgcggctggagtgtgGgccacctcaaggcccacctg	15	15	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:56966259G>A	uc002eke.1	+	1	512	c.103G>A	c.(103-105)GGC>AGC	p.G35S	HERPUD1_uc010vhj.1_Missense_Mutation_p.G96S|HERPUD1_uc002ekf.1_Missense_Mutation_p.G35S|HERPUD1_uc002ekg.1_Missense_Mutation_p.G35S|HERPUD1_uc010cco.1_Missense_Mutation_p.G96S|HERPUD1_uc010ccp.1_Missense_Mutation_p.G96S	NM_014685	NP_055500	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum	35	Ubiquitin-like.|Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	protein binding				0						CTGGAGTGTGGGCCACCTCAA	0.721			T	ERG	prostate								A	56966259	G	A	56966259	3	1	49	1	0	0	0	0	1	0	0	0	7063	1232	43	4	105	4	HERPUD1	16	56966259	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1603093	56966259	33388494	1256	40137											
NLRC5	84166	broad.mit.edu	37	chr16	57095558	57095558	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgctgcctgggccagaagCagctggccatcctcctgagc	13	14	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:57095558C>T	uc002ekk.1	+	32	4324	c.4099C>T	c.(4099-4101)CAG>TAG	p.Q1367*	NLRC5_uc002ekn.2_Nonsense_Mutation_p.Q1028*|NLRC5_uc002ekl.2_Nonsense_Mutation_p.Q1171*|NLRC5_uc002ekm.2_Nonsense_Mutation_p.Q1141*|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekp.1_Nonsense_Mutation_p.Q282*|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Nonsense_Mutation_p.Q254*	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	1367					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				GGGCCAGAAGCAGCTGGCCAT	0.677													T	57095558	C	T	57095558	4	4	49	1	0	0	0	0	0	1	0	0	10470	711	25	2	4217	2	NLRC5	16	57095558	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	129299	57095558	33259195	1257	40138											
CX3CL1	6376	broad.mit.edu	37	chr16	57416243	57416243	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgacgggcgtgactggttccTcagggaccaggctccccccg	14	16	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:57416243T>C	uc002eli.2	+	3	560	c.493T>C	c.(493-495)TCA>CCA	p.S165P		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	165	Mucin-like stalk.|Extracellular (Potential).				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity				0						GACTGGTTCCTCAGGGACCAG	0.672													C	57416243	T	C	57416243	3	2	49	1	0	0	0	0	1	0	0	0	4074	1551	54	3	503	3	CX3CL1	16	57416243	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	320685	57416243	32938510	1258	40139											
GPR56	9289	broad.mit.edu	37	chr16	57689903	57689903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccagcaccagctacagcCggtgagtgggggccagccat	13	13	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:57689903C>T	uc002emb.2	+	8	1308	c.1016C>T	c.(1015-1017)CCG>CTG	p.P339L	GPR56_uc002elz.1_Missense_Mutation_p.P169L|GPR56_uc002ema.1_Missense_Mutation_p.P164L|GPR56_uc002emc.2_Missense_Mutation_p.P339L|GPR56_uc002emf.2_Missense_Mutation_p.P339L|GPR56_uc010vhs.1_Missense_Mutation_p.P339L|GPR56_uc002emd.2_Missense_Mutation_p.P339L|GPR56_uc002eme.2_Missense_Mutation_p.P339L|GPR56_uc010vht.1_Missense_Mutation_p.P344L|GPR56_uc002emg.3_Missense_Mutation_p.P339L|GPR56_uc010vhu.1_Missense_Mutation_p.P164L	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	339	Extracellular (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						CAGCTACAGCCGGTGAGTGGG	0.552													T	57689903	C	T	57689903	3	4	49	1	0	0	0	0	1	0	0	0	6700	666	23	1	1053	1	GPR56	16	57689903	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	273660	57689903	32664850	1259	40140											
CSNK2A2	1459	broad.mit.edu	37	chr16	58202515	58202515	+	Splice_Site	DEL	T	T	-													tgcctggctgtaatggtaccTttttctgttggtgatctatc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:58202514_58202514CT>C	uc002enc.3	-	6	655	c.513_splice	c.e6+1	p.K171_splice		NM_001896	NP_001887	P19784	CSK22_HUMAN	Homo sapiens casein kinase 2, alpha prime polypeptide (CSNK2A2), mRNA.	171	Protein kinase.				Wnt receptor signaling pathway|axon guidance	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						GTAATGGTACCTTTTTCTGTT	0.463													-	58202515	T	-	58202515	8	5	49	1	0	1	0	1	0	0	1	0	3958	1623	56	0	564	0	CSNK2A2	16	58202515	Splice_Site	DEL	T	TCGA-BR-7707-01A-11D-2053-08	512612	58202515	32152238	1260	40141											
CNOT1	23019	broad.mit.edu	37	chr16	58617056	58617056	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacctcccgaacaccaaaCtgcacgattatattgcgaca	7	13	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:58617056C>T	uc002env.2	-	9	1130	c.837G>A	c.(835-837)CAG>CAA	p.Q279Q	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.Q279Q|CNOT1_uc002enx.2_Silent_p.Q279Q|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	279					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GAACACCAAACTGCACGATTA	0.428													T	58617056	C	T	58617056	2	4	49	1	0	0	0	0	0	0	0	1	3617	564	20	4		4	CNOT1	16	58617056	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	414541	58617056	31737697	1261	40142											
CDH11	1009	broad.mit.edu	37	chr16	64981896	64981896	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgtcttcttccccaccCccttcatcatcataagtaat	3	15	6	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:64981896C>T	uc002eoi.2	-	13	2435	c.2001G>A	c.(1999-2001)GGG>GGA	p.G667G	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Silent_p.G541G	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	667	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTTCCCCACCCCCTTCATCAT	0.433			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			T	64981896	C	T	64981896	2	4	49	1	0	0	0	0	0	0	0	1	3097	610	22	4		4	CDH11	16	64981896	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	6364840	64981896	25372857	1262	40143											
CDH11	1009	broad.mit.edu	37	chr16	65038607	65038607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgaagaactggttccagaCccagccacgcttggagcgct	11	14	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:65038607C>T	uc002eoi.2	-	3	600	c.166G>A	c.(166-168)GTC>ATC	p.V56I	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.V56I|CDH11_uc010vin.1_Intron|CDH11_uc010vio.1_Missense_Mutation_p.V56I	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	56	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGGTTCCAGACCCAGCCACGC	0.637			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			T	65038607	C	T	65038607	3	4	49	1	0	0	0	0	1	0	0	0	3097	507	18	4	2268	4	CDH11	16	65038607	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	56711	65038607	25316146	1263	40144											
FHOD1	29109	broad.mit.edu	37	chr16	67265542	67265542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccaagacccaggtacccGctccatgctgtcatagtcca	7	16	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:67265542G>A	uc002esl.2	-	15	2495	c.2383C>T	c.(2383-2385)CGG>TGG	p.R795W	FHOD1_uc002esk.2_5'Flank|FHOD1_uc010ced.2_Missense_Mutation_p.R602W	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	795	Interaction with ROCK1.|FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CCAGGTACCCGCTCCATGCTG	0.562													A	67265542	G	A	67265542	3	1	49	1	0	0	0	0	1	0	0	0	5882	1086	38	1	1143	1	FHOD1	16	67265542	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2226935	67265542	23089211	1264	40145											
PLEKHG4	25894	broad.mit.edu	37	chr16	67316181	67316181	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatggctggcatggctacaAtgccaggggggccgggagct	17	11	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:67316181A>G	uc002eso.3	+	8	3717	c.1182A>G	c.(1180-1182)CAA>CAG	p.Q394Q	PLEKHG4_uc002esp.3_Silent_p.Q201Q|PLEKHG4_uc002esq.3_Silent_p.Q394Q|PLEKHG4_uc010cef.2_Silent_p.Q394Q|PLEKHG4_uc002ess.3_Silent_p.Q394Q|PLEKHG4_uc010ceg.2_Silent_p.Q313Q	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	394					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CATGGCTACAATGCCAGGGGG	0.607													G	67316181	A	G	67316181	2	3	49	1	0	0	0	0	0	0	0	1	12071	98	4	3		3	PLEKHG4	16	67316181	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	50639	67316181	23038572	1265	40146											
CTCF	10664	broad.mit.edu	37	chr16	67660619	67660619	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgattacgcttgtagacagGtaggaaccttcattgaaagt	11	6	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:67660619G>A	uc002etl.2	+	8	1808	c.1518_splice	c.e8+1	p.Q506_splice	CTCF_uc010cek.2_Splice_Site_p.Q178_splice|CTCF_uc002etm.1_5'Flank	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor						chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TTGTAGACAGGTAGGAACCTT	0.428													A	67660619	G	A	67660619	5	1	49	1	0	0	0	0	0	0	1	0	4000	1275	44	4	1541	4	CTCF	16	67660619	Splice_Site	SNP	G	TCGA-BR-7707-01A-11D-2053-08	344438	67660619	22694134	1266	40147											
RLTPR	146206	broad.mit.edu	37	chr16	67683857	67683857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcccggaactgacagcaCgtgcagtccatcaggtgggc	14	14	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:67683857C>T	uc002etn.2	+	21	2188	c.2068C>T	c.(2068-2070)CGT>TGT	p.R690C	RLTPR_uc010cel.1_Missense_Mutation_p.R683C|RLTPR_uc010vjr.1_Missense_Mutation_p.R654C	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	690										breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		ACTGACAGCACGTGCAGTCCA	0.642													T	67683857	C	T	67683857	3	4	49	1	0	0	0	0	1	0	0	0	13394	536	19	1	2150	1	RLTPR	16	67683857	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	23238	67683857	22670896	1267	40148											
LCAT	3931	broad.mit.edu	37	chr16	67976779	67976779	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaacctgccagcttgctgcTgtccaggtactccacagagt	9	14	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:67976779T>C	uc002euy.1	-	3	423	c.412A>G	c.(412-414)AGC>GGC	p.S138G		NM_000229	NP_000220	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase precursor	138					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		AGCTTGCTGCTGTCCAGGTAC	0.652													C	67976779	T	C	67976779	3	2	49	1	0	0	0	0	1	0	0	0	8658	1580	55	3	926	3	LCAT	16	67976779	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	292922	67976779	22377974	1268	40149											
NOB1	28987	broad.mit.edu	37	chr16	69776336	69776336	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagggtagctgagcggcTggagatgtcattctcgacaa	14	9	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:69776336T>C	uc002exs.2	-	9	1154	c.1138A>G	c.(1138-1140)AGC>GGC	p.S380G		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	nin one binding protein	380						nucleus	metal ion binding|protein binding				0						GCTGAGCGGCTGGAGATGTCA	0.572													C	69776336	T	C	69776336	3	2	49	1	0	0	0	0	1	0	0	0	10511	1580	55	3	104	3	NOB1	16	69776336	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1799557	69776336	20578417	1269	40150											
FUK	197258	broad.mit.edu	37	chr16	70513191	70513191	+	Frame_Shift_Del	DEL	C	C	-													gcgtatgatggatgtcctggCcccccacgtgcatggccaga							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:70513191delC	uc002eyy.2	+	23	3096	c.3038delC	c.(3037-3039)GCCfs	p.A1013fs	FUK_uc010cft.2_Frame_Shift_Del_p.A1019fs|FUK_uc002eyz.2_Frame_Shift_Del_p.A504fs	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	1013						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)				GATGTCCTGGCCCCCCACGTG	0.632													-	70513191	C	-	70513191	7	5	49	1	0	1	0	1	0	0	0	0	6096	739	26	0	3124	0	FUK	16	70513191	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	736855	70513191	19841562	1270	40151											
HYDIN	54768	broad.mit.edu	37	chr16	70841851	70841851	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgataggatcaggatgccctTggtctcacccaggtggctgg	14	10	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:70841851T>C	uc002ezr.2	-	86	15123	c.14995A>G	c.(14995-14997)AAG>GAG	p.K4999E	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	5000										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				AGGATGCCCTTGGTCTCACCC	0.567													C	70841851	T	C	70841851	3	2	49	1	0	0	0	0	1	0	0	0	7467	1821	63	3	371	3	HYDIN	16	70841851	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	328660	70841851	19512902	1271	40152											
HYDIN	54768	broad.mit.edu	37	chr16	70852299	70852299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcgatgtcgggcatccgGcattccgtggagaaggtcac	16	10	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:70852299G>A	uc002ezr.2	-	84	14729	c.14601C>T	c.(14599-14601)TGC>TGT	p.C4867C	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4868										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CGGGCATCCGGCATTCCGTGG	0.617													A	70852299	G	A	70852299	2	1	49	1	0	0	0	0	0	0	0	1	7467	1195	42	2		2	HYDIN	16	70852299	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	10448	70852299	19502454	1272	40153											
ZNF19	7567	broad.mit.edu	37	chr16	71509691	71509691	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactcggaactactcgtgaaActattcccacactctgtaca	5	13	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:71509691A>G	uc010cgc.1	-	6	1265	c.759T>C	c.(757-759)AGT>AGC	p.S253S	ZNF23_uc002fai.2_Intron|ZNF19_uc002fak.1_Silent_p.S241S|ZNF19_uc002fal.1_Silent_p.S241S|ZNF19_uc002fam.1_Silent_p.S253S	NM_006961	NP_008892	P17023	ZNF19_HUMAN	zinc finger protein 19	253	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TACTCGTGAAACTATTCCCAC	0.443													G	71509691	A	G	71509691	2	3	49	1	0	0	0	0	0	0	0	1	17752	40	2	3		3	ZNF19	16	71509691	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	657392	71509691	18845062	1273	40154											
ZFHX3	463	broad.mit.edu	37	chr16	72821576	72821576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagagcgcgctctcgcaCgccaggcagtggtacgagcc	13	16	1	1	rs138643120		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:72821576C>T	uc002fck.2	-	10	11272	c.10599G>A	c.(10597-10599)GCG>GCA	p.A3533A	uc002fcj.1_RNA|ZFHX3_uc002fcl.2_Silent_p.A2619A	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3533	C2H2-type 22.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				CGCTCTCGCACGCCAGGCAGT	0.393													T	72821576	C	T	72821576	2	4	49	1	0	0	0	0	0	0	0	1	17631	523	19	1		1	ZFHX3	16	72821576	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1311885	72821576	17533177	1274	40155											
ZFHX3	463	broad.mit.edu	37	chr16	72991508	72991508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgccgaggcccaggtggCggttgtgttggatctgggtc	19	9	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:72991508C>T	uc002fck.2	-	2	3210	c.2537G>A	c.(2536-2538)CGC>CAC	p.R846H	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	846				RHLG -> HHRV (in Ref. 1).	muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GCCCAGGTGGCGGTTGTGTTG	0.562													T	72991508	C	T	72991508	3	4	49	1	0	0	0	0	1	0	0	0	17631	768	27	1	8610	1	ZFHX3	16	72991508	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	169932	72991508	17363245	1275	40156											
GLG1	2734	broad.mit.edu	37	chr16	74526897	74526897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacattaacaagtaggagaGcctggcttcacgcgatcgcg	12	11	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:74526897G>A	uc002fcy.3	-	7	1242	c.1192C>T	c.(1192-1194)CTC>TTC	p.L398F	GLG1_uc002fcx.2_Missense_Mutation_p.L398F|GLG1_uc002fcw.3_Missense_Mutation_p.L387F|GLG1_uc002fcz.3_Intron	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	398	Cys-rich GLG1 5.|Extracellular (Potential).					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2						AAGTAGGAGAGCCTGGCTTCA	0.398													A	74526897	G	A	74526897	3	1	49	1	0	0	0	0	1	0	0	0	6436	971	34	2	2507	2	GLG1	16	74526897	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1535389	74526897	15827856	1276	40157											
ADAMTS18	170692	broad.mit.edu	37	chr16	77334209	77334209	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcacgatactccaggtataGgcaggtctttttgtggctgg	13	8	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:77334209G>T	uc002ffc.3	-	17	3044	c.2625C>A	c.(2623-2625)GCC>GCA	p.A875A	ADAMTS18_uc010chc.1_Silent_p.A463A|ADAMTS18_uc002ffe.1_Silent_p.A571A	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	875	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TCCAGGTATAGGCAGGTCTTT	0.473													T	77334209	G	T	77334209	2	4	49	1	0	0	0	0	0	0	0	1	263	987	35	5		5	ADAMTS18	16	77334209	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2807312	77334209	13020544	1277	40158											
KIAA0182	23199	broad.mit.edu	37	chr16	85690909	85690909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggatgccggcctgcagGcgcccaagcccgtccaacac	12	16	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:85690909G>A	uc002fix.2	+	8	1413	c.1339G>A	c.(1339-1341)GCG>ACG	p.A447T	KIAA0182_uc002fiw.2_Missense_Mutation_p.A343T|KIAA0182_uc002fiy.2_Missense_Mutation_p.A374T	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	447							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						CGGCCTGCAGGCGCCCAAGCC	0.642													A	85690909	G	A	85690909	3	1	49	1	0	0	0	0	1	0	0	0	8159	1203	42	2	1369	2	KIAA0182	16	85690909	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	8356700	85690909	4663844	1278	40159											
KIAA0182	23199	broad.mit.edu	37	chr16	85698686	85698686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactgtcagcagcagtggccGactccttgacaaactctccg	9	15	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:85698686G>A	uc002fix.2	+	12	2784	c.2710G>A	c.(2710-2712)GAC>AAC	p.D904N	KIAA0182_uc002fiw.2_Missense_Mutation_p.D800N|KIAA0182_uc002fiy.2_Missense_Mutation_p.D831N|KIAA0182_uc002fiz.2_Intron|KIAA0182_uc010cho.2_Missense_Mutation_p.D84N	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	904							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						AGCAGTGGCCGACTCCTTGAC	0.557													A	85698686	G	A	85698686	3	1	49	1	0	0	0	0	1	0	0	0	8159	1058	37	1	2756	1	KIAA0182	16	85698686	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	7777	85698686	4656067	1279	40160											
ZC3H18	124245	broad.mit.edu	37	chr16	88691141	88691142	+	Frame_Shift_Ins	INS	-	-	C													aaggagcggccagccaggacINScccccccaggaggtgagcac							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:88691140_88691141A>AC	uc010voz.2	+	12	2301_2302	c.2101_2102A>AC	c.(2101-2103)accfs	p.T701fs	ZC3H18_uc002fky.3_Frame_Shift_Ins_p.T677fs|ZC3H18_uc010chw.3_Non-coding_Transcript|ZC3H18_uc002fkz.3_5'Flank	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	677	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding	p.R680fs*5(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GCCAGCCAGGACCCCCCCCAGG	0.663													C	88691142	-	C	88691141	7	5	49	1	0	1	1	0	0	0	0	0	17565	507	18	0	2072	0	ZC3H18	16	88691141	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	2992455	88691141	1663612	1280	40161											
CPNE7	27132	broad.mit.edu	37	chr16	89661935	89661935	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtcctggacggcgacgacgGcgtcctgcgctccccacggg	16	16	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:89661935G>C	uc002fnp.2	+	16	1818	c.1688G>C	c.(1687-1689)GGC>GCC	p.G563A	CPNE7_uc002fnq.2_Missense_Mutation_p.G488A	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	copine 7 isoform b	563	VWFA.				lipid metabolic process		transporter activity				0		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GGCGACGACGGCGTCCTGCGC	0.667													C	89661935	G	C	89661935	3	2	49	1	0	0	0	0	1	0	0	0	3817	1203	42	5	1750	5	CPNE7	16	89661935	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	970794	89661935	692818	1281	40162											
SPATA2L	124044	broad.mit.edu	37	chr16	89764300	89764300	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccccatacaggctggcGtcctccgacccctcgtcttc	9	19	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:89764300G>A	uc002foj.2	-	3	782	c.717C>T	c.(715-717)GAC>GAT	p.D239D	SPATA2L_uc002fok.2_Intron	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	239											0		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		ACAGGCTGGCGTCCTCCGACC	0.682													A	89764300	G	A	89764300	2	1	49	1	0	0	0	0	0	0	0	1	15008	1136	40	1		1	SPATA2L	16	89764300	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	102365	89764300	590453	1282	40163											
TUBB3	10381	broad.mit.edu	37	chr16	89986444	89986444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggggccccttcttcctgCatctcacactcatcgtcctc	7	18	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:89986444C>T	uc002fpf.2	+	1	1186	c.778C>T	c.(778-780)CAT>TAT	p.H260Y	MC1R_uc002fpe.3_Missense_Mutation_p.H260Y|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	Error:Variant_position_missing_in_Q13509_after_alignment					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CTTCTTCCTGCATCTCACACT	0.587													T	89986444	C	T	89986444	3	4	49	1	0	0	0	0	1	0	0	0	16754	710	25	2		2	TUBB3	16	89986444	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	222144	89986444	368309	1283	40164											
GEMIN4	50628	broad.mit.edu	37	chr17	650620	650620	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggatctgtgtcagcccGcggagcagcatggccaacag	13	13	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:650620G>A	uc002frs.1	-	2	782	c.663C>T	c.(661-663)CGC>CGT	p.R221R	GEMIN4_uc010vqa.1_Intron	NM_015721	NP_056536	P57678	GEMI4_HUMAN	gemin 4	221					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			ovary(2)|kidney(1)|skin(1)	4		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GTGTCAGCCCGCGGAGCAGCA	0.622													A	650620	G	A	650620	2	1	49	1	0	0	0	0	0	0	0	1	6330	1074	38	1		1	GEMIN4	17	650620	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08		650620	80544590	1284	40165											
SCARF1	8578	broad.mit.edu	37	chr17	1538704	1538704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggagagcctcttgggctttCggagcgggctggagagctcc	18	10	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:1538704C>T	uc002fsz.1	-	11	1891	c.1841G>A	c.(1840-1842)CGA>CAA	p.R614Q	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.R528Q	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	614	Pro/Ser-rich.|Cytoplasmic (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTTGGGCTTTCGGAGCGGGCT	0.662													T	1538704	C	T	1538704	3	4	49	1	0	0	0	0	1	0	0	0	13883	884	31	1	655	1	SCARF1	17	1538704	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	888084	1538704	79656506	1285	40166											
SGSM2	9905	broad.mit.edu	37	chr17	2276761	2276761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggcagcagcatcgacaGccacgtgcagcgcctcatcc	10	17	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:2276761G>A	uc002fun.3	+	16	2094	c.1919G>A	c.(1918-1920)AGC>AAC	p.S640N	SGSM2_uc002fum.3_Missense_Mutation_p.S685N|SGSM2_uc010vqw.1_Missense_Mutation_p.S640N|SGSM2_uc002fuo.2_3'UTR|SGSM2_uc002fup.1_5'Flank|SGSM2_uc002fuq.2_5'Flank	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	640	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGCATCGACAGCCACGTGCAG	0.657													A	2276761	G	A	2276761	3	1	49	1	0	0	0	0	1	0	0	0	14223	971	34	2	2120	2	SGSM2	17	2276761	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	738057	2276761	78918449	1286	40167											
ZZEF1	23140	broad.mit.edu	37	chr17	3962504	3962504	+	Frame_Shift_Del	DEL	A	A	-													atcctttaactgctttgaccAaaaacagaacaagttgatag							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:3962503_3962503CA>C	uc002fxe.3	-	30	5029	c.4965_4965TG>G	c.(4963-4965)ttgfs	p.L1655fs	ZZEF1_uc002fxh.3_5'UTR|ZZEF1_uc002fxi.3_5'UTR|ZZEF1_uc002fxj.1_Frame_Shift_Del_p.L268fs|5S_rRNA_uc021tnx.1_5'Flank	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	1655							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTGCTTTGACCAAAAACAGAA	0.328													-	3962504	A	-	3962504	7	5	49	1	0	1	0	1	0	0	0	0	18252	131	5	0	4021	0	ZZEF1	17	3962504	Frame_Shift_Del	DEL	A	TCGA-BR-7707-01A-11D-2053-08	1685743	3962504	77232706	1287	40168											
SPNS3	201305	broad.mit.edu	37	chr17	4348354	4348354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctgcctgctgctgtctgCacctgtgtttggctacctgg	12	12	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:4348354C>T	uc002fxt.2	+	3	337	c.293C>T	c.(292-294)GCA>GTA	p.A98V	SPNS3_uc002fxu.2_Intron	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3	98	Helical; (Potential).				lipid transport|transmembrane transport	integral to membrane				large_intestine(1)	1						CTGCTGTCTGCACCTGTGTTT	0.617													T	4348354	C	T	4348354	3	4	49	1	0	0	0	0	1	0	0	0	15075	710	25	2	303	2	SPNS3	17	4348354	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	385850	4348354	76846856	1288	40169											
PSMB6	5694	broad.mit.edu	37	chr17	4701657	4701657	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagagtcaggggtagagcgGcaagtacttttgggagacca	16	7	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:4701657G>A	uc002fzb.2	+	6	693	c.660G>A	c.(658-660)CGG>CGA	p.R220R		NM_002798	NP_002789	P28072	PSB6_HUMAN	proteasome beta 6 subunit precursor	220					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			ovary(2)	2						GGGTAGAGCGGCAAGTACTTT	0.532													A	4701657	G	A	4701657	2	1	49	1	0	0	0	0	0	0	0	1	12681	1190	42	2		2	PSMB6	17	4701657	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	353303	4701657	76493553	1289	40170											
KIF1C	10749	broad.mit.edu	37	chr17	4910366	4910366	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgggcctgaggaagccaTggagaggctgcaggtgggaa	19	6	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:4910366T>C	uc002gan.1	+	14	1648	c.1322T>C	c.(1321-1323)ATG>ACG	p.M441T		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	441	Potential.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						GAGGAAGCCATGGAGAGGCTG	0.567													C	4910366	T	C	4910366	3	2	49	1	0	0	0	0	1	0	0	0	8285	1464	51	3	1368	3	KIF1C	17	4910366	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	208709	4910366	76284844	1290	40171											
PITPNM3	83394	broad.mit.edu	37	chr17	6387014	6387015	+	Frame_Shift_Ins	INS	-	-	C													acccgtgtccaggatgtttcINSccccatgcaggaccagcagg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:6387013_6387014T>TC	uc002gdd.4	-	5	561_562	c.410_411A>GA	c.(409-411)ggafs	p.G137fs	PITPNM3_uc010cln.3_Frame_Shift_Ins_p.G101fs|PITPNM3_uc002gdc.4_5'Flank	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	137					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CCAGGATGTTTCCCCCATGCAG	0.629													C	6387015	-	C	6387014	7	5	49	1	0	1	1	0	0	0	0	0	11952	855	30	0	2574	0	PITPNM3	17	6387014	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	1476648	6387014	74808196	1291	40172											
KIAA0753	9851	broad.mit.edu	37	chr17	6531749	6531749	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcgggtattttatactTagtatgtccacacttctgag	10	7	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:6531749T>C	uc002gde.3	-	3	765	c.406A>G	c.(406-408)AAG>GAG	p.K136E	KIAA0753_uc010clo.2_5'UTR|KIAA0753_uc010vte.1_5'UTR	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	136						centrosome					0				COAD - Colon adenocarcinoma(228;0.157)		ATTTTATACTTAGTATGTCCA	0.433													C	6531749	T	C	6531749	3	2	49	1	0	0	0	0	1	0	0	0	8191	1763	61	3	2565	3	KIAA0753	17	6531749	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	144735	6531749	74663461	1292	40173											
TEKT1	83659	broad.mit.edu	37	chr17	6718526	6718526	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagaatatctgatgtttggTgagttgttgttgagcgagaa	13	3	2	5			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:6718526T>C	uc002gdt.2	-	5	695	c.585A>G	c.(583-585)TCA>TCG	p.S195S	TEKT1_uc010vth.1_Silent_p.S49S	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	tektin 1	195					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|skin(1)	2		Myeloproliferative disorder(207;0.0255)				TGATGTTTGGTGAGTTGTTGT	0.502													C	6718526	T	C	6718526	2	2	49	1	0	0	0	0	0	0	0	1	15749	1683	59	3		3	TEKT1	17	6718526	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	186777	6718526	74476684	1293	40174											
C17orf81	23587	broad.mit.edu	37	chr17	7155822	7155822	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaggaaggacactgggtcAtgacgccatcagagggcgcc	16	10	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:7155822A>G	uc002gfg.1	+	2	108	c.1A>G	c.(1-3)ATG>GTG	p.M1V	DULLARD_uc002gfd.2_5'Flank|DULLARD_uc002gfe.2_5'Flank|DULLARD_uc002gff.2_5'Flank|DULLARD_uc002gfc.2_5'Flank|C17orf81_uc002gfj.2_Missense_Mutation_p.M1V|C17orf81_uc010cmb.2_Missense_Mutation_p.M1V|C17orf81_uc002gfh.1_Missense_Mutation_p.M1V|C17orf81_uc002gfi.1_Missense_Mutation_p.M1V|C17orf81_uc002gfk.1_Missense_Mutation_p.M1V|C17orf81_uc002gfl.1_Missense_Mutation_p.M1V	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN	S-phase 2 protein isoform 4	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding				0						ACACTGGGTCATGACGCCATC	0.602													G	7155822	A	G	7155822	3	3	49	1	0	0	0	0	1	0	0	0	1886	217	8	3	3	3	C17orf81	17	7155822	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	437296	7155822	74039388	1294	40175											
C17orf74	201243	broad.mit.edu	37	chr17	7329644	7329644	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctttctcctgccaccatTtctccaaccatcacagtagc	3	18	4	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:7329644T>C	uc002ggw.2	+	3	407	c.334T>C	c.(334-336)TTC>CTC	p.F112L	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	112						integral to membrane					0		Prostate(122;0.157)				CTGCCACCATTTCTCCAACCA	0.438													C	7329644	T	C	7329644	3	2	49	1	0	0	0	0	1	0	0	0	1879	1841	64	3	344	3	C17orf74	17	7329644	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	173822	7329644	73865566	1295	40176											
ZBTB4	57659	broad.mit.edu	37	chr17	7365271	7365271	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagggttcaccccacatcGcccttctgggttctctcaac	7	18	4	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:7365271G>A	uc002ghc.3	-	4	3280	c.3030C>T	c.(3028-3030)GGC>GGT	p.G1010G	ZBTB4_uc002ghd.3_Silent_p.G1010G	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	1010					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		ACCCCACATCGCCCTTCTGGG	0.642													A	7365271	G	A	7365271	2	1	49	1	0	0	0	0	0	0	0	1	17538	1074	38	1		1	ZBTB4	17	7365271	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	35627	7365271	73829939	1296	40177											
TP53	7157	broad.mit.edu	37	chr17	7578535	7578537	+	In_Frame_Del	DEL	TTG	TTG	-													tggccagttggcaaaacatcTtgttgagggcaggggagtac							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:7578534_7578536CTTG>C	uc002gim.2	-	4	588_590	c.394_396CAAG>G	c.(394-396)aag>G	p.K132del	TP53_uc002gig.1_In_Frame_Del_p.K132del|TP53_uc002gih.3_In_Frame_Del_p.K132del|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_In_Frame_Del_p.K132del|TP53_uc010cnh.1_In_Frame_Del_p.K132del|TP53_uc002gij.2_In_Frame_Del_p.K132del|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_In_Frame_Del_p.K39del|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_In_Frame_Del_p.K93del	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.K132N(94)|p.K132R(79)|p.K132E(40)|p.K132Q(26)|p.K132M(20)|p.N131del(14)|p.Y126_K132delYSPALNK(12)|p.K132T(12)|p.N131Y(8)|p.0?(8)|p.K132*(7)|p.N131I(5)|p.N131fs*27(4)|p.K132fs*38(4)|p.N131fs*39(3)|p.K39R(3)|p.N131S(3)|p.Y126_N131delYSPALN(3)|p.N131H(2)|p.S127_Q136del10(2)|p.A129_K132delALNK(2)|p.L130_M133delLNKM(2)|p.K39N(2)|p.N131K(2)|p.K132_A138delKMFCQLA(2)|p.K132K(2)|p.K132W(2)|p.Y126fs*11(1)|p.A129_N131delALN(1)|p.M133fs*16(1)|p.V73fs*9(1)|p.L130fs*16(1)|p.K39E(1)|p.N131N(1)|p.K132_M133del(1)|p.N131T(1)|p.M133fs*37(1)|p.K39T(1)|p.S127fs*36(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAAAACATCTTGTTGAGGGCA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			-	7578537	TTG	-	7578535	7	5	49	1	0	1	0	1	0	0	0	0	16378	1609	56	0	903	0	TP53	17	7578535	In_Frame_Del	DEL	TTG	TCGA-BR-7707-01A-11D-2053-08	213264	7578535	73616675	1297	40178											
DNAH2	146754	broad.mit.edu	37	chr17	7695578	7695578	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccctccttaggacacggtAtatgagtattttgtggaccc	10	10	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:7695578A>G	uc002giu.1	+	45	7076	c.7062A>G	c.(7060-7062)GTA>GTG	p.V2354V		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2354					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGACACGGTATATGAGTATT	0.532													G	7695578	A	G	7695578	2	3	49	1	0	0	0	0	0	0	0	1	4602	436	16	3		3	DNAH2	17	7695578	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	117043	7695578	73499632	1298	40179											
DNAH2	146754	broad.mit.edu	37	chr17	7721318	7721318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgcgaatcctagaacacGccattcactttggatacccg	7	14	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:7721318G>A	uc002giu.1	+	67	10305	c.10291G>A	c.(10291-10293)GCC>ACC	p.A3431T	DNAH2_uc010cnm.1_Missense_Mutation_p.A369T	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3431	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTAGAACACGCCATTCACTT	0.532													A	7721318	G	A	7721318	3	1	49	1	0	0	0	0	1	0	0	0	4602	1087	38	1	10557	1	DNAH2	17	7721318	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	25740	7721318	73473892	1299	40180											
KDM6B	23135	broad.mit.edu	37	chr17	7750893	7750893	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccattaccaaactcccgcGctggaggtctctcaccatgg	9	15	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:7750893G>A	uc002giw.1	+	11	1663	c.1287G>A	c.(1285-1287)GCG>GCA	p.A429A	KDM6B_uc002gix.2_5'UTR	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	429	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						AAACTCCCGCGCTGGAGGTCT	0.537													A	7750893	G	A	7750893	2	1	49	1	0	0	0	0	0	0	0	1	8138	1074	38	1		1	KDM6B	17	7750893	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	29575	7750893	73444317	1300	40181											
CHD3	1107	broad.mit.edu	37	chr17	7807305	7807305	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacgtcgtgcgggaagaagAcaaggtgagaggctttgggg	19	5	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:7807305A>G	uc002gje.2	+	24	4040	c.3890A>G	c.(3889-3891)GAC>GGC	p.D1297G	CHD3_uc002gjd.2_Missense_Mutation_p.D1356G|CHD3_uc002gjf.2_Missense_Mutation_p.D1297G|CHD3_uc002gjh.2_5'UTR|SCARNA21_uc002gji.1_5'Flank	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1297					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				CGGGAAGAAGACAAGGTGAGA	0.527													G	7807305	A	G	7807305	3	3	49	1	0	0	0	0	1	0	0	0	3326	275	10	3	4265	3	CHD3	17	7807305	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	56412	7807305	73387905	1301	40182											
CHD3	1107	broad.mit.edu	37	chr17	7813856	7813856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgccttcagatgtccgagCgcagcatcctcagccggctg	11	17	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:7813856C>T	uc002gje.2	+	38	5851	c.5701C>T	c.(5701-5703)CGC>TGC	p.R1901C	CHD3_uc002gjd.2_Missense_Mutation_p.R1960C|CHD3_uc002gjf.2_Missense_Mutation_p.R1867C|CHD3_uc002gjh.2_Missense_Mutation_p.R478C|CHD3_uc002gjj.2_Missense_Mutation_p.R64C	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1901	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				GATGTCCGAGCGCAGCATCCT	0.642													T	7813856	C	T	7813856	3	4	49	1	0	0	0	0	1	0	0	0	3326	768	27	1	6132	1	CHD3	17	7813856	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	6551	7813856	73381354	1302	40183											
CCDC42	146849	broad.mit.edu	37	chr17	8638542	8638542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagggtcttcttggctgCggtgttctggatgtgcgccc	16	10	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:8638542C>T	uc002gln.2	-	6	972	c.745G>A	c.(745-747)GCA>ACA	p.A249T	CCDC42_uc002glo.2_Missense_Mutation_p.A175T	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42 isoform 1	249										ovary(1)	1						TTCTTGGCTGCGGTGTTCTGG	0.478													T	8638542	C	T	8638542	3	4	49	1	0	0	0	0	1	0	0	0	2814	768	27	1	213	1	CCDC42	17	8638542	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	824686	8638542	72556668	1303	40184											
MYH13	8735	broad.mit.edu	37	chr17	10265498	10265498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggcggggcctcctggcGctttttgcctctgtaggcag	17	11	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:10265498G>A	uc002gmk.1	-	5	532	c.442C>T	c.(442-444)CGC>TGC	p.R148C		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	148	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GCCTCCTGGCGCTTTTTGCCT	0.522													A	10265498	G	A	10265498	3	1	49	1	0	0	0	0	1	0	0	0	10032	1087	38	1	5522	1	MYH13	17	10265498	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1626956	10265498	70929712	1304	40185											
TEKT3	64518	broad.mit.edu	37	chr17	15215749	15215749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccgttcactctgggagcGgagaatattgtcatctgtaa	11	9	4	1	rs147750959	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:15215749G>A	uc002gon.2	-	7	1115	c.928C>T	c.(928-930)CGC>TGC	p.R310C		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	tektin 3	310					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CTCTGGGAGCGGAGAATATTG	0.458													A	15215749	G	A	15215749	3	1	49	1	0	0	0	0	1	0	0	0	15751	1116	39	1	556	1	TEKT3	17	15215749	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4950251	15215749	65979461	1305	40186											
TBC1D26	353149	broad.mit.edu	37	chr17	15644464	15644464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccacagggacctgagccGcatcactgccatcctcctcc	7	19	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:15644464G>A	uc010cov.2	+	10	825	c.575G>A	c.(574-576)CGC>CAC	p.R192H	TBC1D26_uc002gpb.3_RNA	NM_178571	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	192	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		GACCTGAGCCGCATCACTGCC	0.592													A	15644464	G	A	15644464	3	1	49	1	0	0	0	0	1	0	0	0	15613	1087	38	1	605	1	TBC1D26	17	15644464	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	428715	15644464	65550746	1306	40187											
NCOR1	9611	broad.mit.edu	37	chr17	15961030	15961030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggaaacttgatttctagCaaaatcttgtgtgataattt	8	5	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:15961030C>T	uc002gpo.2	-	40	6430	c.6190G>A	c.(6190-6192)GCT>ACT	p.A2064T	NCOR1_uc002gpn.2_Missense_Mutation_p.A1961T|NCOR1_uc002gpl.2_Missense_Mutation_p.A79T|NCOR1_uc002gpm.2_Missense_Mutation_p.A584T|NCOR1_uc010vwb.1_Missense_Mutation_p.A648T|NCOR1_uc010coy.2_Missense_Mutation_p.A972T|NCOR1_uc010vwc.1_Missense_Mutation_p.A874T	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	2064	Interaction with C1D (By similarity).|ID1 (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGATTTCTAGCAAAATCTTGT	0.368													T	15961030	C	T	15961030	3	4	49	1	0	0	0	0	1	0	0	0	10235	710	25	2	1160	2	NCOR1	17	15961030	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	316566	15961030	65234180	1307	40188											
RAI1	10743	broad.mit.edu	37	chr17	17698552	17698552	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggtggggattgcaccctggcGagcttaccaagggcctggag	17	10	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:17698552G>T	uc002grm.2	+	3	2759	c.2290G>T	c.(2290-2292)GAG>TAG	p.E764*	RAI1_uc002grn.1_Nonsense_Mutation_p.E764*	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	764						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GCACCCTGGCGAGCTTACCAA	0.642													T	17698552	G	T	17698552	4	4	49	1	0	0	0	0	0	1	0	0	13007	1059	37	5	2292	5	RAI1	17	17698552	Nonsense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1737522	17698552	63496658	1308	40189											
FLII	2314	broad.mit.edu	37	chr17	18148464	18148464	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcctgtcttaggccagggcCttgcagaaggcgctccaggc	14	13	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:18148464C>A	uc002gsr.1	-	30	3849	c.3798G>T	c.(3796-3798)AAG>AAT	p.K1266N	FLII_uc002gsq.1_Missense_Mutation_p.K1137N|FLII_uc010cpy.1_Missense_Mutation_p.K1255N|FLII_uc010vxn.1_Missense_Mutation_p.K1235N|FLII_uc010vxo.1_Missense_Mutation_p.K1211N	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	1266					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)					AGGCCAGGGCCTTGCAGAAGG	0.632													A	18148464	C	A	18148464	3	1	49	1	0	0	0	0	1	0	0	0	5925	680	24	5	15	5	FLII	17	18148464	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	449912	18148464	63046746	1309	40190											
SHMT1	6470	broad.mit.edu	37	chr17	18259316	18259317	+	Splice_Site	INS	-	-	A													gcactggttcgaagctgcctINSaaaaaaatgggaaaaacatg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:18259316_18259317insA	uc002gta.2	-	2	172	c.-18_splice	c.e2-1		SHMT1_uc002gtb.2_Splice_Site|SHMT1_uc010cqb.2_Splice_Site|SHMT1_uc010vxt.1_Splice_Site|SHMT1_uc002gtd.1_Splice_Site|SHMT1_uc010vxu.1_Splice_Site	NM_004169	NP_004160	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)						carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)	1					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CGAAGCTGCCTAAAAAAATGGG	0.337													A	18259317	-	A	18259316	8	5	49	1	0	1	1	0	0	0	1	0	14285	1536	53	0		0	SHMT1	17	18259316	Splice_Site	INS	-	TCGA-BR-7707-01A-11D-2053-08	110852	18259316	62935894	1310	40191	136	2									
SHMT1	6470	broad.mit.edu	37	chr17	18259317	18259318	+	Splice_Site	INS	-	-	A													cactggttcgaagctgcctaINSaaaaaatgggaaaaacatgt							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:18259316_18259317T>TA	uc002gta.3	-	2	172	c.-18_splice	c.e2-1		SHMT1_uc002gtb.3_Splice_Site|SHMT1_uc010vxt.2_Splice_Site|SHMT1_uc002gtd.1_Splice_Site|SHMT1_uc010vxu.1_Splice_Site	NM_004169	NP_004160	P34896	GLYC_HUMAN	Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.						L-serine catabolic process|carnitine biosynthetic process|folic acid metabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CGAAGCTGCCTAAAAAAATGGG	0.406													A	18259318	-	A	18259317	8	5	49	1	0	1	1	0	0	0	1	0	14285	377	13	0		0	SHMT1	17	18259317	Splice_Site	INS	-	TCGA-BR-7707-01A-11D-2053-08	1	18259317	62935893	1311	40192	136	2									
PRPSAP2	5636	broad.mit.edu	37	chr17	18833976	18833976	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccacaatggggagtccatgTcctaccttttcagaaacata	7	11	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:18833976T>C	uc002gup.1	+	12	1286	c.1075T>C	c.(1075-1077)TCC>CCC	p.S359P	PRPSAP2_uc002guo.1_Missense_Mutation_p.S273P|PRPSAP2_uc010vyi.1_Missense_Mutation_p.S307P|PRPSAP2_uc010vyj.1_Missense_Mutation_p.S273P|PRPSAP2_uc010vyk.1_Missense_Mutation_p.S298P|PRPSAP2_uc002guq.1_Missense_Mutation_p.S146P	NM_002767	NP_002758	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate	359					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			skin(1)	1						GGAGTCCATGTCCTACCTTTT	0.478													C	18833976	T	C	18833976	3	2	49	1	0	0	0	0	1	0	0	0	12582	1667	58	3	1113	3	PRPSAP2	17	18833976	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	574659	18833976	62361234	1312	40193											
UBC	7316	broad.mit.edu	37	chr17	21731262	21731262	+	Frame_Shift_Del	DEL	C	C	-													atccaagataaagaaggcatCcccccgatcagcagaggctc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:21731261_21731261TC>T	uc002gyy.3	+	1	688	c.563_563TC>T	c.(562-564)atcfs	p.I188fs				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	340	Ubiquitin-like 3.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AAAGAAGGCATCCCCCCGATC	0.537													-	21731262	C	-	21731262	7	5	49	1	0	1	0	1	0	0	0	0	16839	870	30	0		0	UBC	17	21731262	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	2897286	21731262	59463948	1313	40194											
NOS2	4843	broad.mit.edu	37	chr17	26105782	26105782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttccagagcgaggccagCttgtgcgtttccaggcccat	11	13	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:26105782C>T	uc002gzu.2	-	11	1479	c.1215G>A	c.(1213-1215)AAG>AAA	p.K405K	NOS2_uc010crh.1_Silent_p.K405K|NOS2_uc010wab.1_Silent_p.K405K	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	405					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GCGAGGCCAGCTTGTGCGTTT	0.547													T	26105782	C	T	26105782	2	4	49	1	0	0	0	0	0	0	0	1	10543	796	28	2		2	NOS2	17	26105782	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	4374520	26105782	55089428	1314	40195											
SPAG5	10615	broad.mit.edu	37	chr17	26911493	26911493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaatctgcaactgagcccGgagatctagaacaaaagtat	9	9	2	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:26911493G>A	uc002hbq.2	-	12	2259	c.2167C>T	c.(2167-2169)CGG>TGG	p.R723W	SGK494_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	723	Gln-rich.				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			central_nervous_system(1)	1	Lung NSC(42;0.00431)					AACTGAGCCCGGAGATCTAGA	0.498													A	26911493	G	A	26911493	3	1	49	1	0	0	0	0	1	0	0	0	14981	1115	39	1	1466	1	SPAG5	17	26911493	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	805711	26911493	54283717	1315	40196											
SGK494	124923	broad.mit.edu	37	chr17	26940691	26940691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgggcccagggaccccGgatgttgccaccctgctgag	14	16	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:26940691G>A	uc002hbr.1	-	2	123	c.91C>T	c.(91-93)CGG>TGG	p.R31W	SGK494_uc010waq.1_Missense_Mutation_p.R31W|SGK494_uc010war.1_RNA|uc010crq.1_5'Flank|uc002hbs.1_Intron	NM_144610	NP_653211			uncharacterized serine/threonine-protein kinase												0						CAGGGACCCCGGATGTTGCCA	0.572											OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	26940691	G	A	26940691	3	1	49	1	0	0	0	0	1	0	0	0	14213	1115	39	1	1185	1	SGK494	17	26940691	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	29198	26940691	54254519	1316	40197											
MYO18A	399687	broad.mit.edu	37	chr17	27424848	27424848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgttgatctccgctgcccGgatgagacgggcctccatca	11	16	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:27424848G>A	uc002hdt.1	-	26	4218	c.4060C>T	c.(4060-4062)CGG>TGG	p.R1354W	MYO18A_uc010wbc.1_Missense_Mutation_p.R896W|MYO18A_uc002hds.2_Missense_Mutation_p.R896W|MYO18A_uc010csa.1_Missense_Mutation_p.R1354W|MYO18A_uc002hdu.1_Missense_Mutation_p.R1354W|MYO18A_uc010wbd.1_Missense_Mutation_p.R1023W	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	1354	Potential.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCCGCTGCCCGGATGAGACGG	0.592													A	27424848	G	A	27424848	3	1	49	1	0	0	0	0	1	0	0	0	10065	1115	39	1	2172	1	MYO18A	17	27424848	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	484157	27424848	53770362	1317	40198											
SSH2	85464	broad.mit.edu	37	chr17	27963595	27963595	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaagcagatcattctttcTttggtacacaggcctttctg	7	11	4	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:27963595T>C	uc002heo.1	-	14	1572	c.1572A>G	c.(1570-1572)AAA>AAG	p.K524K	SSH2_uc010wbh.1_Silent_p.K551K	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	524					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						TCATTCTTTCTTTGGTACACA	0.433													C	27963595	T	C	27963595	2	2	49	1	0	0	0	0	0	0	0	1	15184	1606	56	3		3	SSH2	17	27963595	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	538747	27963595	53231615	1318	40199											
SLC6A4	6532	broad.mit.edu	37	chr17	28545192	28545192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaggtgatgttgtcctcGgagaagtaattggtgcagtt	14	6	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:28545192G>A	uc002hey.3	-	5	1186	c.642C>T	c.(640-642)TCC>TCT	p.S214S		NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	214	Extracellular (Potential).				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TGTTGTCCTCGGAGAAGTAAT	0.557													A	28545192	G	A	28545192	2	1	49	1	0	0	0	0	0	0	0	1	14686	1103	39	1		1	SLC6A4	17	28545192	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	581597	28545192	52650018	1319	40200											
CPD	1362	broad.mit.edu	37	chr17	28791624	28791624	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctactatgtcggcatTgatcctaacagcttgcatta	9	9	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:28791624T>C	uc002hfb.1	+	21	3950	c.3935T>C	c.(3934-3936)TTG>TCG	p.L1312S	CPD_uc010wbo.1_Missense_Mutation_p.L1065S|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	1312	Helical; (Potential).				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						ATGTCGGCATTGATCCTAACA	0.388													C	28791624	T	C	28791624	3	2	49	1	0	0	0	0	1	0	0	0	3798	1821	63	3	4017	3	CPD	17	28791624	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	246432	28791624	52403586	1320	40201											
RAB11FIP4	84440	broad.mit.edu	37	chr17	29848367	29848367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcggacctggggtcttcGgtgtcttccaggtggcccct	13	13	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:29848367G>A	uc002hgn.1	+	5	976	c.747G>A	c.(745-747)TCG>TCA	p.S249S	RAB11FIP4_uc002hgo.2_Silent_p.S147S	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	249	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			skin(1)	1		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TGGGGTCTTCGGTGTCTTCCA	0.582													A	29848367	G	A	29848367	2	1	49	1	0	0	0	0	0	0	0	1	12896	1103	39	1		1	RAB11FIP4	17	29848367	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1056743	29848367	51346843	1321	40202											
AP2B1	163	broad.mit.edu	37	chr17	33954489	33954489	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactagagaagttggacatcAtgattcgtttggcatctcaa	9	7	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:33954489A>G	uc002hjr.2	+	8	1213	c.1024A>G	c.(1024-1026)ATG>GTG	p.M342V	AP2B1_uc002hjq.2_Missense_Mutation_p.M342V|AP2B1_uc010wci.1_Missense_Mutation_p.M304V|AP2B1_uc002hjs.2_Missense_Mutation_p.M285V|AP2B1_uc002hjt.2_Missense_Mutation_p.M342V|AP2B1_uc010ctv.2_Missense_Mutation_p.M342V|AP2B1_uc010wcj.1_Missense_Mutation_p.M79V	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	342					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GTTGGACATCATGATTCGTTT	0.403													G	33954489	A	G	33954489	3	3	49	1	0	0	0	0	1	0	0	0	741	217	8	3	1050	3	AP2B1	17	33954489	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	4106122	33954489	47240721	1322	40203											
MMP28	79148	broad.mit.edu	37	chr17	34106043	34106043	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggtggcgcggtccaacacGccgctgacaggtagctggga	17	11	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:34106043G>T	uc002hjy.1	-	3	487	c.228C>A	c.(226-228)GGC>GGA	p.G76G	MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA|MMP28_uc002hka.2_Silent_p.G76G	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	matrix metalloproteinase 28 isoform 1	76					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGTCCAACACGCCGCTGACAG	0.617													T	34106043	G	T	34106043	2	4	49	1	0	0	0	0	0	0	0	1	9665	1074	38	5		5	MMP28	17	34106043	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	151554	34106043	47089167	1323	40204											
ACACA	31	broad.mit.edu	37	chr17	35580491	35580491	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaagaagtttggtaggacaTcaaaaatagatgtttctgat	10	3	2	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:35580491T>A	uc002hnm.2	-	28	3586	c.3395A>T	c.(3394-3396)GAT>GTT	p.D1132V	ACACA_uc002hnk.2_Missense_Mutation_p.D1054V|ACACA_uc002hnl.2_Missense_Mutation_p.D1074V|ACACA_uc002hnn.2_Missense_Mutation_p.D1132V|ACACA_uc002hno.2_Missense_Mutation_p.D1169V|ACACA_uc010cuz.2_Missense_Mutation_p.D1132V	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1132					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGGTAGGACATCAAAAATAGA	0.383													A	35580491	T	A	35580491	3	1	49	1	0	0	0	0	1	0	0	0	106	1435	50	5	3761	5	ACACA	17	35580491	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1474448	35580491	45614719	1324	40205											
SRCIN1	80725	broad.mit.edu	37	chr17	36720452	36720452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaggggcagctcggcctccGacatggtctccagcgactcg	13	16	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:36720452G>A	uc002hqd.2	-	4	668	c.443C>T	c.(442-444)TCG>TTG	p.S148L	SRCIN1_uc002hqf.1_5'Flank|SRCIN1_uc002hqe.2_Missense_Mutation_p.S2L|SRCIN1_uc002hqh.1_Missense_Mutation_p.S208L	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	Error:Variant_position_missing_in_Q9C0H9_after_alignment					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						CTCGGCCTCCGACATGGTCTC	0.692													A	36720452	G	A	36720452	3	1	49	1	0	0	0	0	1	0	0	0	15135	1059	37	1	3172	1	SRCIN1	17	36720452	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1139961	36720452	44474758	1325	40206											
GRB7	2886	broad.mit.edu	37	chr17	37902041	37902041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcacgagcctcagtgcaGgtgggtgacggccccgagtc	16	14	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:37902041G>A	uc002hsr.2	+	12	1520	c.1270G>A	c.(1270-1272)GCC>ACC	p.A424T	GRB7_uc002hss.2_Missense_Mutation_p.A424T|GRB7_uc010cwc.2_Missense_Mutation_p.A424T|GRB7_uc002hst.2_Missense_Mutation_p.A424T	NM_005310	NP_005301	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	424					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCTCAGTGCAGGTGGGTGACG	0.632													A	37902041	G	A	37902041	3	1	49	1	0	0	0	0	1	0	0	0	6759	1014	35	4	1312	4	GRB7	17	37902041	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1181589	37902041	43293169	1326	40207											
GSDMA	284110	broad.mit.edu	37	chr17	38133118	38133118	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggataaagagggtgtttTccccctgcaacctgagctgc	12	11	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:38133118T>C	uc002htl.1	+	12	1263	c.1145T>C	c.(1144-1146)TTC>TCC	p.F382S	GSDMA_uc002htm.1_Missense_Mutation_p.F382S	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	gasdermin 1	382					apoptosis|induction of apoptosis	perinuclear region of cytoplasm					0						GAGGGTGTTTTCCCCCTGCAA	0.557													C	38133118	T	C	38133118	3	2	49	1	0	0	0	0	1	0	0	0	6816	1783	62	3	1187	3	GSDMA	17	38133118	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	231077	38133118	43062092	1327	40208											
CCR7	1236	broad.mit.edu	37	chr17	38711960	38711960	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgatagggaggaaccaggcTttaaagttccgcacgtcctt	11	9	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:38711960T>C	uc002huw.2	-	3	234	c.171A>G	c.(169-171)AAA>AAG	p.K57K		NM_001838	NP_001829	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7 precursor	57	Extracellular (Potential).				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)	1		Breast(137;0.000496)				GGAACCAGGCTTTAAAGTTCC	0.483													C	38711960	T	C	38711960	2	2	49	1	0	0	0	0	0	0	0	1	2946	1606	56	3		3	CCR7	17	38711960	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	578842	38711960	42483250	1328	40209											
SMARCE1	6605	broad.mit.edu	37	chr17	38792670	38792670	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcttcgtattcgtttaAatattcttgtttttcttcat	4	7	4	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:38792670A>C	uc002hux.2	-	6	470	c.346T>G	c.(346-348)TTA>GTA	p.L116V	SMARCE1_uc010wff.1_Missense_Mutation_p.L81V|SMARCE1_uc010wfg.1_Missense_Mutation_p.L46V|SMARCE1_uc002huy.2_Missense_Mutation_p.L81V|SMARCE1_uc010wfh.1_Missense_Mutation_p.L46V|SMARCE1_uc010wfi.1_Missense_Mutation_p.L98V|SMARCE1_uc002huz.1_Missense_Mutation_p.L81V|SMARCE1_uc010wfj.1_Missense_Mutation_p.L98V	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	SWI/SNF-related matrix-associated	116	HMG box.				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity				0		Breast(137;0.000812)				TATTCGTTTAAATATTCTTGT	0.388													C	38792670	A	C	38792670	3	2	49	1	0	0	0	0	1	0	0	0	14780	11	1	5	913	5	SMARCE1	17	38792670	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	80710	38792670	42402540	1329	40210											
KRT28	162605	broad.mit.edu	37	chr17	38953225	38953225	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagggtgcgcctcatctcGgtgagctggctccgggcgaa	16	12	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:38953225G>A	uc002hvh.1	-	5	987	c.921C>T	c.(919-921)ACC>ACT	p.T307T		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	307	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				GCCTCATCTCGGTGAGCTGGC	0.617													A	38953225	G	A	38953225	2	1	49	1	0	0	0	0	0	0	0	1	8465	1103	39	1		1	KRT28	17	38953225	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	160555	38953225	42241985	1330	40211											
KRT23	25984	broad.mit.edu	37	chr17	39092710	39092710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggggtgggcagctccgcGtggtgaaggacagggagatg	21	7	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:39092710G>A	uc002hvm.1	-	2	735	c.146C>T	c.(145-147)ACG>ATG	p.T49M	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Missense_Mutation_p.T49M|KRT23_uc002hvn.1_Missense_Mutation_p.T49M	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	49	Head.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)				GCAGCTCCGCGTGGTGAAGGA	0.687													A	39092710	G	A	39092710	3	1	49	1	0	0	0	0	1	0	0	0	8460	1145	40	1	1154	1	KRT23	17	39092710	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	139485	39092710	42102500	1331	40212											
KRTAP1-1	81851	broad.mit.edu	37	chr17	39197254	39197254	+	Frame_Shift_Del	DEL	G	G	-													gtgcagctcaccacgcagcaGgggggcaggcaggtaccctc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:39197253_39197253AG>A	uc002hvw.1	-	0	461	c.397_397CT>T	c.(397-399)tgcfs	p.C133fs		NM_030967	NP_112229	Q07627	KRA11_HUMAN	Homo sapiens keratin associated protein 1-1 (KRTAP1-1), mRNA.	133						extracellular region|keratin filament				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACCACGCAGCAGGGGGGCAGG	0.677													-	39197254	G	-	39197254	7	5	49	1	0	1	0	1	0	0	0	0	8502	987	35	0	141	0	KRTAP1-1	17	39197254	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	104544	39197254	41997956	1332	40213											
KRTAP1-1	81851	broad.mit.edu	37	chr17	39197586	39197586	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttggctggcagcagctggAgccgcaggtcccactggtgg	17	12	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:39197586A>G	uc002hvw.1	-	1	128	c.64T>C	c.(64-66)TCC>CCC	p.S22P		NM_030967	NP_112229	Q07627	KRA11_HUMAN	keratin associated protein 1-1	22			Missing (in allele KAP1.7).|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			extracellular region|keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCAGCTGGAGCCGCAGGTC	0.612													G	39197586	A	G	39197586	3	3	49	1	0	0	0	0	1	0	0	0	8502	304	11	3	473	3	KRTAP1-1	17	39197586	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	332	39197586	41997624	1333	40214											
KRT32	3882	broad.mit.edu	37	chr17	39622023	39622023	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgggacttccagcctcAcctcctcatggttctttttg	8	14	4	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:39622023A>G	uc002hwr.2	-	3	769	c.708_splice	c.e3+1	p.E236_splice		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32						epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)				TTCCAGCCTCACCTCCTCATG	0.403													G	39622023	A	G	39622023	5	3	49	1	0	0	0	0	0	0	1	0	8468	173	6	3	656	3	KRT32	17	39622023	Splice_Site	SNP	A	TCGA-BR-7707-01A-11D-2053-08	424437	39622023	41573187	1334	40215											
KRT9	3857	broad.mit.edu	37	chr17	39723536	39723536	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaagactaggaatgggAtgattttccgcttcctcctc	11	9	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:39723536A>G	uc002hxe.3	-	7	1927	c.1861T>C	c.(1861-1863)TCC>CCC	p.S621P	JUP_uc010wfs.1_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	keratin 9	621	Tail.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Breast(137;0.000307)				TAGGAATGGGATGATTTtccg	0.239													G	39723536	A	G	39723536	3	3	49	1	0	0	0	0	1	0	0	0	8501	333	12	3	14	3	KRT9	17	39723536	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	101513	39723536	41471674	1335	40216											
KRT16	3868	broad.mit.edu	37	chr17	39768744	39768744	+	Frame_Shift_Del	DEL	C	C	-													tgaagccaccgccatagccgCcccccagcccgcaggctccc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:39768744delC	uc002hxg.3	-	1	336	c.197delG	c.(196-198)GGCfs	p.G66fs	JUP_uc010wfs.1_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	66	Head.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			skin(1)	1		Breast(137;0.000307)				GCCATAGCCGCCCCCCAGCCC	0.488													-	39768744	C	-	39768744	7	5	49	1	0	1	0	1	0	0	0	0	8453	739	26	0	1256	0	KRT16	17	39768744	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	45208	39768744	41426466	1336	40217											
CNP	1267	broad.mit.edu	37	chr17	40120397	40120397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtacaagcggctcgatgaGgacctggctgcctactgccg	14	12	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:40120397G>A	uc002hyl.1	+	2	459	c.315G>A	c.(313-315)GAG>GAA	p.E105E	CNP_uc002hyk.1_Silent_p.E105E|CNP_uc010wfz.1_Intron|CNP_uc002hym.1_Silent_p.E85E|CNP_uc010wga.1_Intron	NM_033133	NP_149124	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	105					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding				0		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GGCTCGATGAGGACCTGGCTG	0.592													A	40120397	G	A	40120397	2	1	49	1	0	0	0	0	0	0	0	1	3626	991	35	4		4	CNP	17	40120397	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	351653	40120397	41074813	1337	40218											
KCNH4	23415	broad.mit.edu	37	chr17	40312256	40312256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagtgaacttcagcaagCgtagtatcctggaggctggg	16	8	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:40312256C>T	uc002hzb.2	-	16	3189	c.2856G>A	c.(2854-2856)ACG>ACA	p.T952T		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	952	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTTCAGCAAGCGTAGTATCCT	0.617													T	40312256	C	T	40312256	2	4	49	1	0	0	0	0	0	0	0	1	8034	755	27	1		1	KCNH4	17	40312256	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	191859	40312256	40882954	1338	40219											
WNK4	65266	broad.mit.edu	37	chr17	40948272	40948272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtccagccgccagcgccGcctctccaagggcagcttcc	11	19	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:40948272G>A	uc002ibj.2	+	17	3584	c.3563G>A	c.(3562-3564)CGC>CAC	p.R1188H	WNK4_uc010wgx.1_Missense_Mutation_p.R852H|CCDC56_uc010wgz.1_Intron|CNTD1_uc002ibm.3_5'Flank|CNTD1_uc010wha.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1188					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CGCCAGCGCCGCCTCTCCAAG	0.612													A	40948272	G	A	40948272	3	1	49	1	0	0	0	0	1	0	0	0	17377	1087	38	1	3629	1	WNK4	17	40948272	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	636016	40948272	40246938	1339	40220											
DHX8	1659	broad.mit.edu	37	chr17	41585055	41585055	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctttggattgttgaaaaAggtaactagatgctctttaa	9	5	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:41585055A>G	uc002idu.1	+	14	2181	c.2108A>G	c.(2107-2109)AAG>AGG	p.K703R	DHX8_uc010wif.1_Missense_Mutation_p.K612R|DHX8_uc010wig.1_Missense_Mutation_p.K703R	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	703	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TTGTTGAAAAAGGTAACTAGA	0.448													G	41585055	A	G	41585055	3	3	49	1	0	0	0	0	1	0	0	0	4515	86	3	3	2162	3	DHX8	17	41585055	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	636783	41585055	39610155	1340	40221											
MPP2	4355	broad.mit.edu	37	chr17	41960294	41960294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttctccggctgtcttgcGgatgcccaccatgcgcacag	11	14	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:41960294G>A	uc010wip.1	-	5	622	c.565C>T	c.(565-567)CGC>TGC	p.R189C	MPP2_uc002ien.1_Missense_Mutation_p.R161C|MPP2_uc010wim.1_Missense_Mutation_p.R133C|MPP2_uc002ieo.1_Missense_Mutation_p.R144C|MPP2_uc010win.1_Missense_Mutation_p.R5C|MPP2_uc010wio.1_Missense_Mutation_p.R133C|MPP2_uc010czm.1_Missense_Mutation_p.R127C	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	168					signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GCTGTCTTGCGGATGCCCACC	0.592													A	41960294	G	A	41960294	3	1	49	1	0	0	0	0	1	0	0	0	9734	1116	39	1	1264	1	MPP2	17	41960294	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	375239	41960294	39234916	1341	40222											
SLC4A1	6521	broad.mit.edu	37	chr17	42337271	42337271	+	Frame_Shift_Del	DEL	C	C	-													tcaggactgcaggcttcacaCcccccagggcctccagctct							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:42337271delC	uc002igf.3	-	7	664	c.515delG	c.(514-516)GGTfs	p.G172fs	SLC4A1_uc002igg.3_Frame_Shift_Del_p.G172fs	NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	172	Cytoplasmic.				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGGCTTCACACCCCCCAGGGC	0.602													-	42337271	C	-	42337271	7	5	49	1	0	1	0	1	0	0	0	0	14650	507	18	0	2276	0	SLC4A1	17	42337271	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	376977	42337271	38857939	1342	40223											
ITGA2B	3674	broad.mit.edu	37	chr17	42461924	42461924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtagtgttgagatcccCgtcgaactcgcccacggcca	11	15	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:42461924C>T	uc002igt.1	-	8	861	c.829G>A	c.(829-831)GGG>AGG	p.G277R		NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	277	Potential.|Extracellular (Potential).|FG-GAP 4.				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TTGAGATCCCCGTCGAACTCG	0.562													T	42461924	C	T	42461924	3	4	49	1	0	0	0	0	1	0	0	0	7876	652	23	1	2382	1	ITGA2B	17	42461924	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	124653	42461924	38733286	1343	40224											
ADAM11	4185	broad.mit.edu	37	chr17	42837183	42837183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtcacggaacccagccGtctggttagggagagctccg	15	11	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:42837183G>A	uc002ihh.2	+	2	155	c.155G>A	c.(154-156)CGT>CAT	p.R52H	ADAM11_uc010wjd.1_5'UTR	NM_002390	NP_002381	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11 preproprotein	52					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			pancreas(1)	1		Prostate(33;0.0959)				GAACCCAGCCGTCTGGTTAGG	0.692													A	42837183	G	A	42837183	3	1	49	1	0	0	0	0	1	0	0	0	235	1145	40	1	161	1	ADAM11	17	42837183	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	375259	42837183	38358027	1344	40225											
ADAM11	4185	broad.mit.edu	37	chr17	42855087	42855087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacgtgcagctggcggaCggctctgacctgagctatgt	15	12	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:42855087C>T	uc002ihh.2	+	23	1926	c.1926C>T	c.(1924-1926)GAC>GAT	p.D642D	ADAM11_uc010wjd.1_Silent_p.D442D|ADAM11_uc002ihi.2_Translation_Start_Site	NM_002390	NP_002381	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11 preproprotein	642	Cys-rich.|Extracellular (Potential).				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			pancreas(1)	1		Prostate(33;0.0959)				AGCTGGCGGACGGCTCTGACC	0.632													T	42855087	C	T	42855087	2	4	49	1	0	0	0	0	0	0	0	1	235	535	19	1		1	ADAM11	17	42855087	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	17904	42855087	38340123	1345	40226											
MAP3K14	9020	broad.mit.edu	37	chr17	43345039	43345039	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagctctctcggctgggcaTggagggtctggtggtaattg	16	7	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:43345039T>C	uc002iiw.1	-	13	2169	c.2060A>G	c.(2059-2061)CAT>CGT	p.H687R	LOC100133991_uc010dah.2_Intron|LOC100133991_uc002iit.3_Intron|LOC100133991_uc010dai.2_Intron|MAP3K14_uc002iiu.1_Missense_Mutation_p.H217R|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Missense_Mutation_p.H271R	NM_003954	NP_003945	Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase	687					cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						CGGCTGGGCATGGAGGGTCTG	0.587													C	43345039	T	C	43345039	3	2	49	1	0	0	0	0	1	0	0	0	9248	1464	51	3	803	3	MAP3K14	17	43345039	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	489952	43345039	37850171	1346	40227											
SP2	6668	broad.mit.edu	37	chr17	45993853	45993853	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcggtccctcagattcAggcaagcaattcccaaacca	8	15	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:45993853A>G	uc002imk.2	+	3	553	c.416A>G	c.(415-417)CAG>CGG	p.Q139R	SP2_uc002iml.2_Missense_Mutation_p.Q132R|uc002imm.2_Intron	NM_003110	NP_003101	Q02086	SP2_HUMAN	Sp2 transcription factor	139					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding				0						CCTCAGATTCAGGCAAGCAAT	0.542													G	45993853	A	G	45993853	3	3	49	1	0	0	0	0	1	0	0	0	14964	188	7	3	426	3	SP2	17	45993853	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	2648814	45993853	35201357	1347	40228											
SP2	6668	broad.mit.edu	37	chr17	46002400	46002400	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccggagagacccagccCggggagaagcggcgccgcat	17	14	0	2	rs138122841		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:46002400C>T	uc002imk.2	+	5	1625	c.1488C>T	c.(1486-1488)CCC>CCT	p.P496P	SP2_uc002iml.2_Silent_p.P489P	NM_003110	NP_003101	Q02086	SP2_HUMAN	Sp2 transcription factor	496					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding				0						AGACCCAGCCCGGGGAGAAGC	0.607													T	46002400	C	T	46002400	2	4	49	1	0	0	0	0	0	0	0	1	14964	639	23	1		1	SP2	17	46002400	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	8547	46002400	35192810	1348	40229											
TAC4	255061	broad.mit.edu	37	chr17	47918915	47918915	+	Splice_Site	DEL	T	T	-													aggtttgggcaatacttaccTttttttctccttggctggat							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:47918914_47918914CT>C	uc002ipo.1	-	3	250	c.250_splice	c.e3+1	p.A84_splice	TAC4_uc002ipp.1_Splice_Site_p.A78_splice|TAC4_uc002ipq.1_Splice_Site_p.G78_splice|TAC4_uc002ipr.1_Intron|TAC4_uc002ips.1_Intron	NM_170685	NP_733786	Q86UU9	TKN4_HUMAN	Homo sapiens tachykinin 4 (hemokinin) (TAC4), transcript variant alpha, mRNA.	84					regulation of blood pressure	extracellular region				breast(1)|large_intestine(1)|lung(3)	5						CAATACTTACCTTTTTTTCTC	0.552													-	47918915	T	-	47918915	8	5	49	1	0	1	0	1	0	0	1	0	15497	1623	56	0	104	0	TAC4	17	47918915	Splice_Site	DEL	T	TCGA-BR-7707-01A-11D-2053-08	1916515	47918915	33276295	1349	40230											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602													-	48433967	C	-	48433967	7	5	49	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	515052	48433967	32761243	1350	40231											
LRRC59	55379	broad.mit.edu	37	chr17	48472334	48472334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacagatccaggatggtggCctttggaagggcagcctagg	16	8	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:48472334C>T	uc002iqt.2	-	2	275	c.121G>A	c.(121-123)GCC>ACC	p.A41T		NM_018509	NP_060979	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	41	Cytoplasmic (Potential).|LRR 2.					endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			central_nervous_system(1)	1	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			AGGATGGTGGCCTTTGGAAGG	0.453													T	48472334	C	T	48472334	3	4	49	1	0	0	0	0	1	0	0	0	9015	739	26	2	826	2	LRRC59	17	48472334	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	38367	48472334	32722876	1351	40232											
SPATA20	64847	broad.mit.edu	37	chr17	48632944	48632944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggttggaagaccaggccaCtgcatatgtgtgtgagaatc	13	8	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:48632944C>T	uc002irf.2	+	16	2423	c.2282C>T	c.(2281-2283)ACT>ATT	p.T761I	SPATA20_uc002irc.2_Missense_Mutation_p.T428I|SPATA20_uc002ire.2_Missense_Mutation_p.T717I|SPATA20_uc002ird.2_Missense_Mutation_p.T777I|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	761					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GACCAGGCCACTGCATATGTG	0.572													T	48632944	C	T	48632944	3	4	49	1	0	0	0	0	1	0	0	0	15005	565	20	4	2396	4	SPATA20	17	48632944	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	160610	48632944	32562266	1352	40233											
CACNA1G	8913	broad.mit.edu	37	chr17	48692826	48692826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcatcacaggtgtcatcGggctgaacgtggtcaccatg	11	11	5	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:48692826G>A	uc002irk.1	+	27	5236	c.4864G>A	c.(4864-4866)GGG>AGG	p.G1622R	CACNA1G_uc002irj.1_Missense_Mutation_p.G1588R|CACNA1G_uc002irl.1_Missense_Mutation_p.G1599R|CACNA1G_uc002irm.1_Missense_Mutation_p.G1588R|CACNA1G_uc002irn.1_Missense_Mutation_p.G1581R|CACNA1G_uc002iro.1_Missense_Mutation_p.G1588R|CACNA1G_uc002irp.1_Missense_Mutation_p.G1622R|CACNA1G_uc002irq.1_Missense_Mutation_p.G1599R|CACNA1G_uc002irr.1_Missense_Mutation_p.G1622R|CACNA1G_uc002irs.1_Missense_Mutation_p.G1611R|CACNA1G_uc002irt.1_Missense_Mutation_p.G1604R|CACNA1G_uc002irv.1_Missense_Mutation_p.G1611R|CACNA1G_uc002irw.1_Missense_Mutation_p.G1599R|CACNA1G_uc002iru.1_Missense_Mutation_p.G1588R|CACNA1G_uc002irx.1_Missense_Mutation_p.G1535R|CACNA1G_uc002iry.1_Missense_Mutation_p.G1524R|CACNA1G_uc002irz.1_Missense_Mutation_p.G1535R|CACNA1G_uc002isa.1_Missense_Mutation_p.G1501R|CACNA1G_uc002isb.1_Missense_Mutation_p.G1542R|CACNA1G_uc002isc.1_Missense_Mutation_p.G1524R|CACNA1G_uc002isd.1_Missense_Mutation_p.G1517R|CACNA1G_uc002ise.1_Missense_Mutation_p.G1490R|CACNA1G_uc002isf.1_Missense_Mutation_p.G1517R|CACNA1G_uc002isg.1_Missense_Mutation_p.G1483R|CACNA1G_uc002ish.1_Missense_Mutation_p.G1490R|CACNA1G_uc002isi.1_Missense_Mutation_p.G1478R	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1622	IV.|Helical; Name=S1 of repeat IV; (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGTGTCATCGGGCTGAACGT	0.612													A	48692826	G	A	48692826	3	1	49	1	0	0	0	0	1	0	0	0	2544	1116	39	1	5237	1	CACNA1G	17	48692826	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	59882	48692826	32502384	1353	40234											
CACNA1G	8913	broad.mit.edu	37	chr17	48703460	48703460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggtgagtgggccctcccCgcccctggcccgggcctact	14	17	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:48703460C>T	uc002irk.1	+	38	6854	c.6482C>T	c.(6481-6483)CCG>CTG	p.P2161L	CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Missense_Mutation_p.P2045L|CACNA1G_uc002irm.1_Missense_Mutation_p.P2082L|CACNA1G_uc002irn.1_Missense_Mutation_p.P2027L|CACNA1G_uc002iro.1_Missense_Mutation_p.P2034L|CACNA1G_uc002irp.1_Missense_Mutation_p.P2116L|CACNA1G_uc002irq.1_Missense_Mutation_p.P2138L|CACNA1G_uc002irr.1_Missense_Mutation_p.P2068L|CACNA1G_uc002irs.1_Missense_Mutation_p.P2105L|CACNA1G_uc002irt.1_Missense_Mutation_p.P2050L|CACNA1G_uc002irv.1_Missense_Mutation_p.P2057L|CACNA1G_uc002irw.1_Missense_Mutation_p.P2090L|CACNA1G_uc002iru.1_Missense_Mutation_p.P2127L|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002irz.1_Missense_Mutation_p.P1974L|CACNA1G_uc002isa.1_Missense_Mutation_p.P1947L|CACNA1G_uc002isb.1_Missense_Mutation_p.P1988L|CACNA1G_uc002isc.1_Missense_Mutation_p.P2063L|CACNA1G_uc002isd.1_Missense_Mutation_p.P1956L|CACNA1G_uc002ise.1_Missense_Mutation_p.P1984L|CACNA1G_uc002isf.1_Missense_Mutation_p.P2011L|CACNA1G_uc002isg.1_Missense_Mutation_p.P1929L|CACNA1G_uc002ish.1_Missense_Mutation_p.P1936L|CACNA1G_uc002isi.1_Missense_Mutation_p.P1924L	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	2161	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGCCCTCCCCGCCCCTGGCC	0.642											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	48703460	C	T	48703460	3	4	49	1	0	0	0	0	1	0	0	0	2544	652	23	1	6899	1	CACNA1G	17	48703460	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	10634	48703460	32491750	1354	40235											
LUC7L3	51747	broad.mit.edu	37	chr17	48822104	48822104	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagatgcccagtcccgggTagatgaccatttgatgggaa	14	8	0	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:48822104T>C	uc002isr.2	+	7	740	c.623T>C	c.(622-624)GTA>GCA	p.V208A	LUC7L3_uc002isp.1_Missense_Mutation_p.V132A|LUC7L3_uc010wmw.1_Missense_Mutation_p.V132A|LUC7L3_uc002isq.2_Missense_Mutation_p.V208A|LUC7L3_uc002iss.2_Missense_Mutation_p.V208A	NM_006107	NP_006098	O95232	LC7L3_HUMAN	LUC7-like 3	208					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding				0						CAGTCCCGGGTAGATGACCAT	0.328													C	48822104	T	C	48822104	3	2	49	1	0	0	0	0	1	0	0	0	9084	1638	57	3	649	3	LUC7L3	17	48822104	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	118644	48822104	32373106	1355	40236											
KIF2B	84643	broad.mit.edu	37	chr17	51902173	51902173	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacagagtgaggagcagaaAgagattgaagaggttgaaac	15	3	0	7			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:51902173A>C	uc002iua.2	+	1	1935	c.1779A>C	c.(1777-1779)AAA>AAC	p.K593N	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	593					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						AGGAGCAGAAAGAGATTGAAG	0.418													C	51902173	A	C	51902173	3	2	49	1	0	0	0	0	1	0	0	0	8298	69	3	5	1781	5	KIF2B	17	51902173	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	3080069	51902173	29293037	1356	40237											
STXBP4	252983	broad.mit.edu	37	chr17	53077036	53077036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattcataagacaaaaatccGacaacattcagccagaaaat	4	10	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:53077036G>A	uc002iuf.1	+	6	538	c.331G>A	c.(331-333)GAC>AAC	p.D111N	STXBP4_uc010dcc.1_Missense_Mutation_p.D36N|STXBP4_uc010dcd.1_Missense_Mutation_p.D111N	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	111						cytoplasm	calcium ion binding			ovary(1)	1						ACAAAAATCCGACAACATTCA	0.353													A	53077036	G	A	53077036	3	1	49	1	0	0	0	0	1	0	0	0	15354	1058	37	1	345	1	STXBP4	17	53077036	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1174863	53077036	28118174	1357	40238											
BZRAP1	9256	broad.mit.edu	37	chr17	56389881	56389881	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccctgcatcctcctcctcAggtctgggctggctccttcc	8	19	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:56389881A>G	uc002ivx.3	-	17	3172	c.2301T>C	c.(2299-2301)CCT>CCC	p.P767P	BZRAP1_uc010dcs.2_Silent_p.P707P|BZRAP1_uc010wnt.1_Silent_p.P767P	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	767						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTCCTCCTCAGGTCTGGGCT	0.657													G	56389881	A	G	56389881	2	3	49	1	0	0	0	0	0	0	0	1	1577	175	7	3		3	BZRAP1	17	56389881	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	3312845	56389881	24805329	1358	40239											
BZRAP1	9256	broad.mit.edu	37	chr17	56389972	56389972	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aactgagttcagggcctgagCtgtgggacaaatcggccagc	14	10	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:56389972C>G	uc002ivx.3	-	17	3081	c.2210G>C	c.(2209-2211)AGC>ACC	p.S737T	BZRAP1_uc010dcs.2_Missense_Mutation_p.S677T|BZRAP1_uc010wnt.1_Missense_Mutation_p.S737T	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	737						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGGCCTGAGCTGTGGGACAA	0.612													G	56389972	C	G	56389972	3	3	49	1	0	0	0	0	1	0	0	0	1577	797	28	5	3423	5	BZRAP1	17	56389972	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	91	56389972	24805238	1359	40240											
SUPT4H1	6827	broad.mit.edu	37	chr17	56424934	56424934	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgtcctctggactcatcAtcgcaatgattctagggagg	11	10	4	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:56424934A>G	uc002iwe.1	-	3	255	c.188T>C	c.(187-189)ATG>ACG	p.M63T	uc010dct.1_Intron|uc010dcu.1_Intron|uc002ivz.2_Intron|uc010dcv.1_Intron|uc002iwa.2_Intron|uc002iwb.2_Intron|uc002iwc.2_Intron|SUPT4H1_uc002iwd.1_RNA	NM_003168	NP_003159	P63272	SPT4H_HUMAN	suppressor of Ty 4 homolog 1	63					chromatin remodeling|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGACTCATCATCGCAATGAT	0.498													G	56424934	A	G	56424934	3	3	49	1	0	0	0	0	1	0	0	0	15395	217	8	3	177	3	SUPT4H1	17	56424934	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	34962	56424934	24770276	1360	40241											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	49	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	10227	56435161	24760049	1361	40242											
TLK2	11011	broad.mit.edu	37	chr17	60657500	60657500	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatccaacgctaaatgacAgatatttgttgttacatctt	5	8	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:60657500A>G	uc010ddp.2	+	16	1649	c.1381A>G	c.(1381-1383)AGA>GGA	p.R461G	TLK2_uc002izx.3_Missense_Mutation_p.R287G|TLK2_uc002izz.3_Missense_Mutation_p.R439G|TLK2_uc002jaa.3_Missense_Mutation_p.R407G|TLK2_uc010wpd.1_Missense_Mutation_p.R407G	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	461					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2						GCTAAATGACAGATATTTGTT	0.403													G	60657500	A	G	60657500	3	3	49	1	0	0	0	0	1	0	0	0	15941	180	7	3	1369	3	TLK2	17	60657500	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	4222339	60657500	20537710	1362	40243											
SMURF2	64750	broad.mit.edu	37	chr17	62551006	62551006	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttattttcttcattaacAgggatacttttgccatttgg	6	6	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:62551006A>G	uc002jep.1	-	15	2104	c.1716T>C	c.(1714-1716)CCT>CCC	p.P572P	SMURF2_uc002jeq.1_Silent_p.P331P|SMURF2_uc002jer.1_Silent_p.P331P	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	572	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			skin(3)|lung(1)	4	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			CTTCATTAACAGGGATACTTT	0.313													G	62551006	A	G	62551006	2	3	49	1	0	0	0	0	0	0	0	1	14820	175	7	3		3	SMURF2	17	62551006	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1893506	62551006	18644204	1363	40244											
CCDC46	201134	broad.mit.edu	37	chr17	64049989	64049989	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttccatttctgctacagcAttgtgaagctacatcaggaa	8	9	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:64049989A>G	uc002jfl.2	-	12	1302	c.1083T>C	c.(1081-1083)AAT>AAC	p.N361N	CCDC46_uc010deo.2_Silent_p.N103N|CCDC46_uc002jfm.2_Silent_p.N361N|CCDC46_uc010dep.2_Silent_p.N319N	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	coiled-coil domain containing 46 isoform a	361	Potential.					centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)			CTGCTACAGCATTGTGAAGCT	0.338													G	64049989	A	G	64049989	2	3	49	1	0	0	0	0	0	0	0	1	2817	214	8	3		3	CCDC46	17	64049989	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1498983	64049989	17145221	1364	40245											
BPTF	2186	broad.mit.edu	37	chr17	65888143	65888143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaataaattatttaaggaggGcaaagaggtgtgttctttct	10	3	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:65888143G>A	uc002jgf.2	+	5	2109	c.2048G>A	c.(2047-2049)GGC>GAC	p.G683D	BPTF_uc002jge.2_Missense_Mutation_p.G809D|BPTF_uc010wqm.1_Missense_Mutation_p.G746D	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	809					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTAAGGAGGGCAAAGAGGTG	0.388													A	65888143	G	A	65888143	3	1	49	1	0	0	0	0	1	0	0	0	1495	1203	42	2	2452	2	BPTF	17	65888143	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1838154	65888143	15307067	1365	40246											
ABCA9	10350	broad.mit.edu	37	chr17	66982372	66982372	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtacacctccaggtgctGcctcactgtcaggttgggcc	12	14	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:66982372G>A	uc002jhu.2	-	32	4284	c.4141C>T	c.(4141-4143)CAG>TAG	p.Q1381*	ABCA9_uc010dez.2_Nonsense_Mutation_p.Q1343*	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1381	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					TCCAGGTGCTGCCTCACTGTC	0.607													A	66982372	G	A	66982372	4	1	49	1	0	0	0	0	0	1	0	0	39	1328	46	2	765	2	ABCA9	17	66982372	Nonsense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1094229	66982372	14212838	1366	40247											
ABCA10	10349	broad.mit.edu	37	chr17	67170783	67170783	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcccatgaaagctggaatcCcagaaatatgaagtagtaaa	8	7	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:67170783C>A	uc010dfa.1	-	25	3892	c.3013G>T	c.(3013-3015)GGA>TGA	p.G1005*	ABCA10_uc010wqs.1_Intron|ABCA10_uc010wqt.1_RNA	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	1005	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					AGCTGGAATCCCAGAAATATG	0.343													A	67170783	C	A	67170783	4	1	49	1	0	0	0	0	0	1	0	0	29	632	22	5	1682	5	ABCA10	17	67170783	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	188411	67170783	14024427	1367	40248											
ABCA10	10349	broad.mit.edu	37	chr17	67210857	67210857	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacttaccaggtaaaactcGctcaaaatataatgtgaata	5	7	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:67210857G>A	uc010dfa.1	-	10	1873	c.994C>T	c.(994-996)CGA>TGA	p.R332*	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_5'UTR|ABCA10_uc010dfc.1_Nonsense_Mutation_p.R224*	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	332					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					GGTAAAACTCGCTCAAAATAT	0.279													A	67210857	G	A	67210857	4	1	49	1	0	0	0	0	0	1	0	0	29	1095	38	1	3761	1	ABCA10	17	67210857	Nonsense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	40074	67210857	13984353	1368	40249											
SLC39A11	201266	broad.mit.edu	37	chr17	70943934	70943934	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagggaagagcagcgcgggAccctcaggatcagacttctt	13	11	4	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:70943934A>G	uc002jjb.2	-	5	502	c.387T>C	c.(385-387)GGT>GGC	p.G129G	SLC39A11_uc002jja.2_Silent_p.G129G|SLC39A11_uc002jjc.1_Silent_p.G129G	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11 isoform 1	129					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						GCAGCGCGGGACCCTCAGGAT	0.547													G	70943934	A	G	70943934	2	3	49	1	0	0	0	0	0	0	0	1	14614	262	10	3		3	SLC39A11	17	70943934	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	3733077	70943934	10251276	1369	40250											
CDC42EP4	23580	broad.mit.edu	37	chr17	71281599	71281599	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttcatcctcctcctcctcAtccatgaaggagaactcctt	4	15	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:71281599A>G	uc002jjn.2	-	2	1188	c.1041T>C	c.(1039-1041)GAT>GAC	p.D347D	CDC42EP4_uc002jjo.2_Silent_p.D347D|CDC42EP4_uc002jjp.1_Silent_p.D277D	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Cdc42 effector protein 4	347					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding				0			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCTCCTCCTCATCCATGAAGG	0.637													G	71281599	A	G	71281599	2	3	49	1	0	0	0	0	0	0	0	1	3078	214	8	3		3	CDC42EP4	17	71281599	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	337665	71281599	9913611	1370	40251											
SDK2	54549	broad.mit.edu	37	chr17	71398134	71398134	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgcgtggcccgtccccGggggtggtgaaacacagcac	16	13	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:71398134G>A	uc010dfm.2	-	19	2631	c.2631C>T	c.(2629-2631)CCC>CCT	p.P877P	SDK2_uc002jjt.3_Silent_p.P36P|SDK2_uc010dfn.2_Silent_p.P556P	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	877	Fibronectin type-III 3.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2						GCCCGTCCCCGGGGGTGGTGA	0.657													A	71398134	G	A	71398134	2	1	49	1	0	0	0	0	0	0	0	1	13969	1103	39	1		1	SDK2	17	71398134	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	116535	71398134	9797076	1371	40252											
OTOP3	347741	broad.mit.edu	37	chr17	72945440	72945440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcgccatcgtcaacttcGgcctgcctctgggggtcttc	12	14	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:72945440G>A	uc010wrr.1	+	7	1720	c.1720G>A	c.(1720-1722)GGC>AGC	p.G574S	OTOP3_uc010wrq.1_Missense_Mutation_p.G556S	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	574	Helical; (Potential).					integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)					CGTCAACTTCGGCCTGCCTCT	0.592													A	72945440	G	A	72945440	3	1	49	1	0	0	0	0	1	0	0	0	11307	1116	39	1	1746	1	OTOP3	17	72945440	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1547306	72945440	8249770	1372	40253											
LLGL2	3993	broad.mit.edu	37	chr17	73568034	73568034	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggcatcctggtgctcgaCggacacagcgtaccccttcc	12	15	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:73568034C>T	uc002joh.2	+	19	2503	c.2349C>T	c.(2347-2349)GAC>GAT	p.D783D	LLGL2_uc002joi.2_Silent_p.D783D|LLGL2_uc010dgg.1_Silent_p.D783D|LLGL2_uc002joj.2_Silent_p.D772D|LLGL2_uc010wsd.1_Silent_p.D410D	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	783	WD 12.				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGGTGCTCGACGGACACAGCG	0.657													T	73568034	C	T	73568034	2	4	49	1	0	0	0	0	0	0	0	1	8834	535	19	1		1	LLGL2	17	73568034	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	622594	73568034	7627176	1373	40254											
ITGB4	3691	broad.mit.edu	37	chr17	73747158	73747158	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggtgagatcacagcctaCgaggtctgctatggcctggt	13	10	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:73747158C>T	uc002jpg.2	+	30	3946	c.3759C>T	c.(3757-3759)TAC>TAT	p.Y1253Y	ITGB4_uc002jph.2_Silent_p.Y1253Y|ITGB4_uc002jpi.3_Silent_p.Y1253Y|ITGB4_uc002jpj.2_Silent_p.Y1253Y	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1253	Fibronectin type-III 2.|Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCACAGCCTACGAGGTCTGCT	0.597													T	73747158	C	T	73747158	2	4	49	1	0	0	0	0	0	0	0	1	7897	547	19	1		1	ITGB4	17	73747158	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	179124	73747158	7448052	1374	40255											
FBF1	85302	broad.mit.edu	37	chr17	73916363	73916363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgcccctcacctgggcctCcagctctgccagccgggcct	11	20	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:73916363C>T	uc002jqc.2	-	17	2051	c.1777G>A	c.(1777-1779)GAG>AAG	p.E593K	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.E584K|FBF1_uc002jqd.1_Missense_Mutation_p.E594K|FBF1_uc002jqb.2_5'Flank|FBF1_uc010dgr.1_5'UTR	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	593											0						ACCTGGGCCTCCAGCTCTGCC	0.667													T	73916363	C	T	73916363	3	4	49	1	0	0	0	0	1	0	0	0	5695	864	30	4	1676	4	FBF1	17	73916363	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	169205	73916363	7278847	1375	40256											
ACOX1	51	broad.mit.edu	37	chr17	73946860	73946860	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatttgactctcacctagcCgtctggagcatcatgacagt	10	11	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:73946860C>T	uc002jqf.2	-	9	1583	c.1293G>A	c.(1291-1293)ACG>ACA	p.T431T	ACOX1_uc010wsq.1_Silent_p.T393T|ACOX1_uc002jqe.2_Silent_p.T431T|ACOX1_uc010wsr.1_Silent_p.T363T	NM_007292	NP_009223	Q15067	ACOX1_HUMAN	acyl-Coenzyme A oxidase 1 isoform b	431					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			ovary(1)	1						CTCACCTAGCCGTCTGGAGCA	0.433													T	73946860	C	T	73946860	2	4	49	1	0	0	0	0	0	0	0	1	158	639	23	1		1	ACOX1	17	73946860	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	30497	73946860	7248350	1376	40257											
EVPL	2125	broad.mit.edu	37	chr17	74005245	74005245	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcgtacaccgcgtcctcCgcggcccgcctcttctgggc	11	19	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:74005245C>T	uc002jqi.2	-	22	4269	c.4041G>A	c.(4039-4041)GCG>GCA	p.A1347A	EVPL_uc010wss.1_Silent_p.A1369A|EVPL_uc010wst.1_Silent_p.A817A	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1347	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CCGCGTCCTCCGCGGCCCGCC	0.682													T	74005245	C	T	74005245	2	4	49	1	0	0	0	0	0	0	0	1	5292	639	23	1		1	EVPL	17	74005245	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	58385	74005245	7189965	1377	40258											
EVPL	2125	broad.mit.edu	37	chr17	74011054	74011054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgagggctcgcacctggCgctgctggcgaggcaggtct	18	12	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:74011054C>T	uc002jqi.2	-	17	2393	c.2165G>A	c.(2164-2166)CGC>CAC	p.R722H	EVPL_uc010wss.1_Missense_Mutation_p.R744H|EVPL_uc010wst.1_Missense_Mutation_p.R192H	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	722	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						TCGCACCTGGCGCTGCTGGCG	0.667													T	74011054	C	T	74011054	3	4	49	1	0	0	0	0	1	0	0	0	5292	768	27	1	3960	1	EVPL	17	74011054	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	5809	74011054	7184156	1378	40259											
QRICH2	84074	broad.mit.edu	37	chr17	74278023	74278023	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttggagttgctcatagcgCcgcaccagcgtgctgacctg	12	13	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:74278023C>T	uc002jrd.1	-	8	3867	c.3687G>A	c.(3685-3687)CGG>CGA	p.R1229R	QRICH2_uc010wsz.1_Silent_p.R1155R|QRICH2_uc010dgw.1_Silent_p.R73R	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1229							protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						GCTCATAGCGCCGCACCAGCG	0.642													T	74278023	C	T	74278023	2	4	49	1	0	0	0	0	0	0	0	1	12880	726	26	2		2	QRICH2	17	74278023	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	266969	74278023	6917187	1379	40260											
SPHK1	8877	broad.mit.edu	37	chr17	74382513	74382513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggcctgactgggagaccGccatccagaagcccctgtgt	13	14	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:74382513G>A	uc002jrf.1	+	7	1107	c.298G>A	c.(298-300)GCC>ACC	p.A100T	SPHK1_uc002jrg.1_Missense_Mutation_p.A49T|SPHK1_uc002jrh.2_Missense_Mutation_p.A114T|SPHK1_uc002jrj.2_Missense_Mutation_p.A186T|SPHK1_uc002jri.2_Missense_Mutation_p.A100T|SPHK1_uc002jrk.3_Missense_Mutation_p.A100T	NM_001142602	NP_001136074	Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1 isoform 3	100	DAGKc.				'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			kidney(1)	1						CTGGGAGACCGCCATCCAGAA	0.657											OREG0024750	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	74382513	G	A	74382513	3	1	49	1	0	0	0	0	1	0	0	0	15045	1087	38	1	616	1	SPHK1	17	74382513	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	104490	74382513	6812697	1380	40261											
ST6GALNAC2	10610	broad.mit.edu	37	chr17	74566696	74566696	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggcacgcccagaatggccgAtctcagcatcacatagtcgc	10	14	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:74566696A>T	uc002jsg.3	-	6	979	c.724T>A	c.(724-726)TCG>ACG	p.S242T		NM_006456	NP_006447	Q9UJ37	SIA7B_HUMAN	sialyltransferase 7B	242	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity				0						AGAATGGCCGATCTCAGCATC	0.582													T	74566696	A	T	74566696	3	4	49	1	0	0	0	0	1	0	0	0	15223	333	12	5	416	5	ST6GALNAC2	17	74566696	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	184183	74566696	6628514	1381	40262											
SEPT9	10801	broad.mit.edu	37	chr17	75398265	75398265	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaattccaggacctgggCgtgaagaactcagaaccctc	10	12	1	4	rs61744333		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:75398265C>T	uc002jts.3	+	3	327	c.201C>T	c.(199-201)GGC>GGT	p.G67G	SEPT9_uc010wtk.1_Silent_p.G48G|SEPT9_uc002jtt.3_5'UTR|SEPT9_uc002jtu.3_Silent_p.G49G|SEPT9_uc002jtv.2_Silent_p.G60G|SEPT9_uc002jtw.2_5'UTR|SEPT9_uc002jtx.1_5'UTR|SEPT9_uc010wtl.1_5'Flank	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	septin 9 isoform a	67					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding			breast(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(99;0.153)			AGGACCTGGGCGTGAAGAACT	0.667													T	75398265	C	T	75398265	2	4	49	1	0	0	0	0	0	0	0	1	14071	755	27	1		1	SEPT9	17	75398265	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	831569	75398265	5796945	1382	40263											
TNRC6C	57690	broad.mit.edu	37	chr17	76089061	76089061	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccaggtaagtcctccAttgatgactcctatggccgg	11	13	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:76089061A>G	uc002jud.2	+	16	4618	c.4018A>G	c.(4018-4020)ATT>GTT	p.I1340V	TNRC6C_uc002juf.2_Missense_Mutation_p.I1337V	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	1340					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TAAGTCCTCCATTGATGACTC	0.507													G	76089061	A	G	76089061	3	3	49	1	0	0	0	0	1	0	0	0	16339	217	8	3	4068	3	TNRC6C	17	76089061	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	690796	76089061	5106149	1383	40264											
DNAH17	8632	broad.mit.edu	37	chr17	76548815	76548815	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatgtcgtttcagcgctcaAtaacttgacatcaattgctt	6	9	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:76548815A>G	uc002jvv.1	-	11	1463	c.1357T>C	c.(1357-1359)TTG>CTG	p.L453L						RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCAGCGCTCAATAACTTGACA	0.423													G	76548815	A	G	76548815	2	3	49	1	0	0	0	0	0	0	0	1	4601	98	4	3		3	DNAH17	17	76548815	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	459754	76548815	4646395	1384	40265											
ENGASE	64772	broad.mit.edu	37	chr17	77076406	77076406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagatcactcagttttttcGttttgatggctggctgatca	9	9	3	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:77076406G>A	uc002jwv.2	+	5	691	c.683G>A	c.(682-684)CGT>CAT	p.R228H	ENGASE_uc002jwu.1_Missense_Mutation_p.R228H|ENGASE_uc010wtz.1_Missense_Mutation_p.R42H|ENGASE_uc002jww.2_5'UTR	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	228						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			skin(1)	1						CAGTTTTTTCGTTTTGATGGC	0.607													A	77076406	G	A	77076406	3	1	49	1	0	0	0	0	1	0	0	0	5118	1145	40	1	701	1	ENGASE	17	77076406	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	527591	77076406	4118804	1385	40266											
CBX4	8535	broad.mit.edu	37	chr17	77809003	77809003	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggtagtagtacttgccgctCttgcccggcggcgggggctt	16	11	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:77809003C>T	uc002jxe.2	-	5	601	c.438G>A	c.(436-438)AAG>AAA	p.K146K		NM_003655	NP_003646	O00257	CBX4_HUMAN	chromobox homolog 4	146	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			skin(2)	2			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ACTTGCCGCTCTTGCCCGGCG	0.637											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	77809003	C	T	77809003	2	4	49	1	0	0	0	0	0	0	0	1	2720	912	32	4		4	CBX4	17	77809003	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	732597	77809003	3386207	1386	40267											
RPTOR	57521	broad.mit.edu	37	chr17	78599517	78599517	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtcagtgttgccttagtTttgtgcctgaatgttggtgt	12	6	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:78599517T>C	uc002jyt.1	+	2	994	c.189T>C	c.(187-189)GTT>GTC	p.V63V	RPTOR_uc002jys.2_Silent_p.V63V|RPTOR_uc010wuf.1_5'UTR|RPTOR_uc010wug.1_Silent_p.V63V	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	63					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						TTGCCTTAGTTTTGTGCCTGA	0.438													C	78599517	T	C	78599517	2	2	49	1	0	0	0	0	0	0	0	1	13665	1828	64	3		3	RPTOR	17	78599517	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	790514	78599517	2595693	1387	40268											
AATK	9625	broad.mit.edu	37	chr17	79094124	79094124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggctgcgcaggttgcgCgcgctctggctctcagccac	14	15	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:79094124C>T	uc010dia.2	-	11	3692	c.3612G>A	c.(3610-3612)GCG>GCA	p.A1204A	AATK_uc010dhz.2_RNA	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1204						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCAGGTTGCGCGCGCTCTGGC	0.662													T	79094124	C	T	79094124	2	4	49	1	0	0	0	0	0	0	0	1	26	755	27	1		1	AATK	17	79094124	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	494607	79094124	2101086	1388	40269											
AZI1	22994	broad.mit.edu	37	chr17	79173252	79173252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagctcctgagcaggctgcCgcattcctggcactctggtc	11	15	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:79173252C>T	uc002jzp.1	-	10	1321	c.1121G>A	c.(1120-1122)CGG>CAG	p.R374Q	AZI1_uc002jzm.1_5'Flank|AZI1_uc002jzn.1_Missense_Mutation_p.R374Q|AZI1_uc002jzo.1_Missense_Mutation_p.R374Q|AZI1_uc010wum.1_Missense_Mutation_p.R374Q	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	374					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGCAGGCTGCCGCATTCCTGG	0.657													T	79173252	C	T	79173252	3	4	49	1	0	0	0	0	1	0	0	0	1240	652	23	1	2189	1	AZI1	17	79173252	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	79128	79173252	2021958	1389	40270											
C17orf70	80233	broad.mit.edu	37	chr17	79512907	79512907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcacagcacaggggcacGcctggaggggaggcatcagc	18	11	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:79512907G>A	uc002kaq.2	-	6	2230	c.2175C>T	c.(2173-2175)GGC>GGT	p.G725G	C17orf70_uc002kao.1_Silent_p.G374G|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Silent_p.G574G	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	725					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			ovary(1)|skin(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ACAGGGGCACGCCTGGAGGGG	0.642													A	79512907	G	A	79512907	2	1	49	1	0	0	0	0	0	0	0	1	1877	1101	38	1		1	C17orf70	17	79512907	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	339655	79512907	1682303	1390	40271											
TSPAN10	83882	broad.mit.edu	37	chr17	79612028	79612028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctctgcaggaaactgcagGccagaagcccctctctgtgc	10	16	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:79612028G>A	uc010die.2	+	2	137	c.47G>A	c.(46-48)GGC>GAC	p.G16D	TSPAN10_uc002kaw.1_Missense_Mutation_p.G16D|TSPAN10_uc010did.1_RNA	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	tetraspanin 10	16						integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GAAACTGCAGGCCAGAAGCCC	0.642													A	79612028	G	A	79612028	3	1	49	1	0	0	0	0	1	0	0	0	16631	1203	42	2	53	2	TSPAN10	17	79612028	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	99121	79612028	1583182	1391	40272											
P4HB	5034	broad.mit.edu	37	chr17	79803437	79803437	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtctggagggaaggcgcacCgtcctgtcggcactggcagg	17	12	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:79803437C>T	uc002kbn.1	-	9	1556	c.1359G>A	c.(1357-1359)ACG>ACA	p.T453T	P4HB_uc002kbl.1_Silent_p.T130T|P4HB_uc002kbm.1_Silent_p.T130T	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	453	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GAAGGCGCACCGTCCTGTCGG	0.642													T	79803437	C	T	79803437	2	4	49	1	0	0	0	0	0	0	0	1	11359	666	23	1		1	P4HB	17	79803437	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	191409	79803437	1391773	1392	40273											
RFNG	5986	broad.mit.edu	37	chr17	80006940	80006940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcaggctgaagcctccaGccacgttcaccacgttatgt	10	13	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:80006940G>A	uc002kdj.2	-	7	889	c.881C>T	c.(880-882)GCT>GTT	p.A294V	RFNG_uc002kdh.2_Missense_Mutation_p.A79V|GPS1_uc002kdk.1_5'Flank|GPS1_uc002kdl.1_5'Flank|GPS1_uc010dij.1_5'Flank|GPS1_uc002kdm.1_5'Flank|GPS1_uc002kdn.1_5'Flank|GPS1_uc002kdo.1_5'Flank|GPS1_uc010wvh.1_5'Flank	NM_002917	NP_002908	Q9Y644	RFNG_HUMAN	radical fringe	294	Lumenal (Potential).				cell differentiation|nervous system development|organ morphogenesis|pattern specification process	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GAAGCCTCCAGCCACGTTCAC	0.607													A	80006940	G	A	80006940	3	1	49	1	0	0	0	0	1	0	0	0	13252	971	34	2	122	2	RFNG	17	80006940	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	203503	80006940	1188270	1393	40274											
CCDC57	284001	broad.mit.edu	37	chr17	80059604	80059604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttggggggcctctggcagCctttagcttttgcaggatga	14	9	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:80059604C>T	uc002kdx.1	-	17	2739	c.2702G>A	c.(2701-2703)GGC>GAC	p.G901D		NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	902										ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CCTCTGGCAGCCTTTAGCTTT	0.612													T	80059604	C	T	80059604	3	4	49	1	0	0	0	0	1	0	0	0	2827	739	26	2	49	2	CCDC57	17	80059604	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	52664	80059604	1135606	1394	40275											
CSNK1D	1453	broad.mit.edu	37	chr17	80213367	80213367	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggagcagaagttgaagaGgtcctccaggcttggcccca	13	12	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:80213367G>T	uc002kej.2	-	3	590	c.274C>A	c.(274-276)CTC>ATC	p.L92I	SLC16A3_uc002kee.2_Intron|CSNK1D_uc002kef.2_Missense_Mutation_p.L92I|CSNK1D_uc002kei.2_Missense_Mutation_p.L92I|CSNK1D_uc010wvj.1_5'UTR|CSNK1D_uc002keh.2_5'Flank|CSNK1D_uc010dim.1_5'Flank	NM_001893	NP_001884	P48730	KC1D_HUMAN	casein kinase 1, delta isoform 1	92	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)	2	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			AAGTTGAAGAGGTCCTCCAGG	0.552													T	80213367	G	T	80213367	3	4	49	1	0	0	0	0	1	0	0	0	3952	1000	35	5	1038	5	CSNK1D	17	80213367	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	153763	80213367	981843	1395	40276											
CD7	924	broad.mit.edu	37	chr17	80274772	80274772	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgagctgcctcaggtagatCccacgcaggcccccgctggt	12	17	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:80274772C>T	uc002kel.1	-	2	277	c.168G>A	c.(166-168)GGG>GGA	p.G56G	CD7_uc010din.2_Silent_p.G56G|CD7_uc002kem.2_Missense_Mutation_p.D38N|CD7_uc010wvk.1_Silent_p.G56G	NM_006137	NP_006128	P09564	CD7_HUMAN	CD7 antigen precursor	56	Ig-like.|Extracellular (Probable).				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity				0	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			TCAGGTAGATCCCACGCAGGC	0.657													T	80274772	C	T	80274772	2	4	49	1	0	0	0	0	0	0	0	1	3032	842	30	4		4	CD7	17	80274772	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	61405	80274772	920438	1396	40277											
TBCD	6904	broad.mit.edu	37	chr17	80861301	80861301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatccgagagttggctgCgagggcgctgcacaacctgg	16	11	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:80861301C>T	uc002kfz.2	+	19	1881	c.1751C>T	c.(1750-1752)GCG>GTG	p.A584V	TBCD_uc002kfx.1_Missense_Mutation_p.A567V|TBCD_uc002kfy.1_Missense_Mutation_p.A584V|TBCD_uc002kgb.1_5'UTR	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	584	HEAT 2.				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GAGTTGGCTGCGAGGGCGCTG	0.557													T	80861301	C	T	80861301	3	4	49	1	0	0	0	0	1	0	0	0	15630	768	27	1	1825	1	TBCD	17	80861301	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	586529	80861301	333909	1397	40278											
SMCHD1	23347	broad.mit.edu	37	chr18	2700817	2700817	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggtgcattattcactaaTgacaaattccaggtcagcac	7	10	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:2700817T>C	uc002klm.3	+	12	1737	c.1548T>C	c.(1546-1548)AAT>AAC	p.N516N	SMCHD1_uc002klk.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	516					chromosome organization		ATP binding				0						TATTCACTAATGACAAATTCC	0.368													C	2700817	T	C	2700817	2	2	49	1	0	0	0	0	0	0	0	1	14788	1461	51	3		3	SMCHD1	18	2700817	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08		2700817	75376431	1398	40279											
SMCHD1	23347	broad.mit.edu	37	chr18	2706440	2706440	+	Frame_Shift_Del	DEL	A	A	-													cagttgctgagaaagctgttAaaaaatatgtagaagatgaa							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:2706440delA	uc002klm.3	+	15	2224	c.2035delA	c.(2035-2037)AAAfs	p.K679fs	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	679					chromosome organization		ATP binding				0						GAAAGCTGTTAAAAAATATGT	0.353													-	2706440	A	-	2706440	7	5	49	1	0	1	0	1	0	0	0	0	14788	363	13	0	2093	0	SMCHD1	18	2706440	Frame_Shift_Del	DEL	A	TCGA-BR-7707-01A-11D-2053-08	5623	2706440	75370808	1399	40280											
DLGAP1	9229	broad.mit.edu	37	chr18	3729198	3729198	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcgaggacgacctcagggAcacgcactcgtcgtcctggg	15	14	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:3729198A>G	uc002kmf.2	-	4	1595	c.1528T>C	c.(1528-1530)TCC>CCC	p.S510P	DLGAP1_uc010wyz.1_Missense_Mutation_p.S510P|DLGAP1_uc002kme.1_Missense_Mutation_p.S208P|DLGAP1_uc010dkn.2_Missense_Mutation_p.S208P|DLGAP1_uc010wyw.1_Missense_Mutation_p.S216P|DLGAP1_uc010wyx.1_Missense_Mutation_p.S222P|DLGAP1_uc010wyy.1_Missense_Mutation_p.S222P|DLGAP1_uc002kmg.2_Missense_Mutation_p.S208P|DLGAP1_uc002kmk.2_Missense_Mutation_p.S510P	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	510					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				GACCTCAGGGACACGCACTCG	0.687													G	3729198	A	G	3729198	3	3	49	1	0	0	0	0	1	0	0	0	4559	275	10	3	1433	3	DLGAP1	18	3729198	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1022758	3729198	74348050	1400	40281											
EPB41L3	23136	broad.mit.edu	37	chr18	5419828	5419828	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtcacagtggtgatcaagTtggtctgagagatgcctttt	13	6	3	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:5419828T>G	uc002kmt.1	-	12	1474	c.1388A>C	c.(1387-1389)AAC>ACC	p.N463T	EPB41L3_uc010wzh.1_Missense_Mutation_p.N481T|EPB41L3_uc002kmu.1_Missense_Mutation_p.N481T|EPB41L3_uc010dkq.1_Missense_Mutation_p.N372T|EPB41L3_uc002kms.1_5'UTR|EPB41L3_uc010wze.1_5'UTR|EPB41L3_uc010wzf.1_5'UTR|EPB41L3_uc010wzg.1_5'UTR|EPB41L3_uc010dkr.2_Missense_Mutation_p.N42T	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	463	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GGTGATCAAGTTGGTCTGAGA	0.333													G	5419828	T	G	5419828	3	3	49	1	0	0	0	0	1	0	0	0	5154	1725	60	5	1919	5	EPB41L3	18	5419828	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1690630	5419828	72657420	1401	40282											
LAMA1	284217	broad.mit.edu	37	chr18	6999505	6999505	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatcgcaccggagccccgaGgcccccagcctgcaaacgca	10	19	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:6999505G>T	uc002knm.2	-	32	4696	c.4602C>A	c.(4600-4602)GCC>GCA	p.A1534A	LAMA1_uc010wzj.1_Silent_p.A1010A	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1534	Laminin EGF-like 17.				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)	GGAGCCCCGAGGCCCCCAGCC	0.547													T	6999505	G	T	6999505	2	4	49	1	0	0	0	0	0	0	0	1	8605	987	35	5		5	LAMA1	18	6999505	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1579677	6999505	71077743	1402	40283											
PTPRM	5797	broad.mit.edu	37	chr18	7567873	7567873	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacttttgctaactgcggcGggcgagacgttctcaggtaa	14	9	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:7567873G>A	uc002knn.3	+	1	560	c.57G>A	c.(55-57)GCG>GCA	p.A19A	PTPRM_uc010dkv.2_Silent_p.A19A	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	19					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				TAACTGCGGCGGGCGAGACGT	0.393													A	7567873	G	A	7567873	2	1	49	1	0	0	0	0	0	0	0	1	12806	1103	39	1		1	PTPRM	18	7567873	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	568368	7567873	70509375	1403	40284											
KIAA0802	23255	broad.mit.edu	37	chr18	8720350	8720350	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcaggtagccaaagatgtAtctgtcagattgcaccacga	10	9	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:8720350A>G	uc002knr.2	+	4	355	c.213A>G	c.(211-213)GTA>GTG	p.V71V	KIAA0802_uc002knq.2_Silent_p.V71V	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	422											0						CCAAAGATGTATCTGTCAGAT	0.448													G	8720350	A	G	8720350	2	3	49	1	0	0	0	0	0	0	0	1	8194	436	16	3		3	KIAA0802	18	8720350	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1152477	8720350	69356898	1404	40285											
APCDD1	147495	broad.mit.edu	37	chr18	10468632	10468632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccacctacaatcgagggCcactgggtctccacagggta	11	13	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:10468632C>T	uc002kom.3	+	2	579	c.225C>T	c.(223-225)GGC>GGT	p.G75G		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	75	Extracellular (Potential).				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding				0				READ - Rectum adenocarcinoma(15;0.08)		CAATCGAGGGCCACTGGGTCT	0.542													T	10468632	C	T	10468632	2	4	49	1	0	0	0	0	0	0	0	1	765	726	26	2		2	APCDD1	18	10468632	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1748282	10468632	67608616	1405	40286											
MC2R	4158	broad.mit.edu	37	chr18	13884951	13884951	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtgcacatagaggcacagGatgaagaccagcatcagcgg	13	9	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:13884951G>A	uc002ksp.1	-	2	744	c.567C>T	c.(565-567)ATC>ATT	p.I189I		NM_000529	NP_000520	Q01718	ACTHR_HUMAN	melanocortin 2 receptor	189	Helical; Name=5; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			ovary(4)|skin(1)	5					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGAGGCACAGGATGAAGACCA	0.567													A	13884951	G	A	13884951	2	1	49	1	0	0	0	0	0	0	0	1	9364	1164	41	4		4	MC2R	18	13884951	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	3416319	13884951	64192297	1406	40287											
SS18	6760	broad.mit.edu	37	chr18	23637588	23637588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatctggttctgcatgtgcGgtgcaggaggacccccacct	12	13	3	0	rs149732063	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:23637588G>A	uc002kvm.2	-	4	428	c.350C>T	c.(349-351)CCG>CTG	p.P117L	SS18_uc002kvn.2_Missense_Mutation_p.P117L|SS18_uc010xbf.1_Missense_Mutation_p.P35L|SS18_uc010xbg.1_Missense_Mutation_p.P65L|SS18_uc010xbh.1_Missense_Mutation_p.P65L|SS18_uc010xbi.1_Missense_Mutation_p.P94L|SS18_uc010dlz.1_Missense_Mutation_p.P65L	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	117	Transcriptional activation.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	soft_tissue(1883)|ovary(1)	1884	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					CTGCATGTGCGGTGCAGGAGG	0.547			T	SSX1| SSX2	synovial sarcoma								A	23637588	G	A	23637588	3	1	49	1	0	0	0	0	1	0	0	0	15174	1116	39	1	938	1	SS18	18	23637588	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	9752637	23637588	54439660	1407	40288											
DSC3	1825	broad.mit.edu	37	chr18	28581620	28581620	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcttctgtgtttgatatAattaagttttgctgtgctaa	10	4	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:28581620A>G	uc002kwj.3	-	14	2354	c.2199T>C	c.(2197-2199)ATT>ATC	p.I733I	DSC3_uc002kwi.3_Silent_p.I733I	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	733	Cytoplasmic (Potential).				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)|skin(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTTTGATATAATTAAGTTTT	0.308													G	28581620	A	G	28581620	2	3	49	1	0	0	0	0	0	0	0	1	4767	358	13	3		3	DSC3	18	28581620	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	4944032	28581620	49495628	1408	40289											
DSG4	147409	broad.mit.edu	37	chr18	28965115	28965115	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggtggtgatggaagtaaAcagtgaatttattgttgagg	14	2	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:28965115A>G	uc002kwq.2	+	2	200	c.65A>G	c.(64-66)AAC>AGC	p.N22S	DSG4_uc002kwr.2_Missense_Mutation_p.N22S	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2 preproprotein	22					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATGGAAGTAAACAGTGAATTT	0.204													G	28965115	A	G	28965115	3	3	49	1	0	0	0	0	1	0	0	0	4779	43	2	3	71	3	DSG4	18	28965115	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	383495	28965115	49112133	1409	40290											
DSG4	147409	broad.mit.edu	37	chr18	28986046	28986046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttccatttcagctacctCggcaatccttacggctaagc	6	15	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:28986046C>T	uc002kwq.2	+	12	1778	c.1643C>T	c.(1642-1644)TCG>TTG	p.S548L	DSG4_uc002kwr.2_Missense_Mutation_p.S548L	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2 preproprotein	548	Extracellular (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCAGCTACCTCGGCAATCCTT	0.418													T	28986046	C	T	28986046	3	4	49	1	0	0	0	0	1	0	0	0	4779	893	31	1	1689	1	DSG4	18	28986046	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	20931	28986046	49091202	1410	40291											
KIAA1012	22878	broad.mit.edu	37	chr18	29522637	29522637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgattgagacgagtgaGccgctcggcttcgtcgctgc	16	10	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:29522637G>A	uc002kxc.3	-	1	455	c.91C>T	c.(91-93)CTC>TTC	p.L31F	KIAA1012_uc002kxb.3_Intron|KIAA1012_uc002kxd.3_RNA|KIAA1012_uc002kxe.2_Missense_Mutation_p.L31F	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	31					ER to Golgi vesicle-mediated transport	cis-Golgi network					0						AGACGAGTGAGCCGCTCGGCT	0.612													A	29522637	G	A	29522637	3	1	49	1	0	0	0	0	1	0	0	0	8204	971	34	2	4332	2	KIAA1012	18	29522637	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	536591	29522637	48554611	1411	40292											
ASXL3	80816	broad.mit.edu	37	chr18	31326067	31326067	+	Frame_Shift_Del	DEL	T	T	-													ataaaatcggaacctctttcTtttgaggaaggtttaagcag							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:31326066_31326066CT>C	uc010dmg.1	+	11	6309	c.6254_6254CT>C	c.(6253-6255)tctfs	p.S2085fs	ASXL3_uc002kxq.2_Frame_Shift_Del_p.S1792fs	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	2085					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAACCTCTTTCTTTTGAGGAA	0.408													-	31326067	T	-	31326067	7	5	49	1	0	1	0	1	0	0	0	0	1068	1596	56	0	6301	0	ASXL3	18	31326067	Frame_Shift_Del	DEL	T	TCGA-BR-7707-01A-11D-2053-08	1803430	31326067	46751181	1412	40293											
ASXL3	80816	broad.mit.edu	37	chr18	31326458	31326458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaactgaaatgctcttgcCggctgaaagccatgattgtg	12	8	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:31326458C>T	uc010dmg.1	+	12	6701	c.6646C>T	c.(6646-6648)CGG>TGG	p.R2216W	ASXL3_uc002kxq.2_Missense_Mutation_p.R1923W	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	2216	PHD-type; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						ATGCTCTTGCCGGCTGAAAGC	0.507													T	31326458	C	T	31326458	3	4	49	1	0	0	0	0	1	0	0	0	1068	643	23	1	6692	1	ASXL3	18	31326458	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	391	31326458	46750790	1413	40294											
DTNA	1837	broad.mit.edu	37	chr18	32455306	32455306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctccaccccgacgcacaCgccgcaggactccctcacag	8	21	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:32455306C>T	uc010dmn.1	+	17	1767	c.1766C>T	c.(1765-1767)ACG>ATG	p.T589M	DTNA_uc002kxw.2_Missense_Mutation_p.T532M|DTNA_uc010dmj.2_Missense_Mutation_p.T529M|DTNA_uc002kxz.2_Missense_Mutation_p.T536M|DTNA_uc002kxy.2_Missense_Mutation_p.T529M|DTNA_uc010xby.1_Missense_Mutation_p.T279M|DTNA_uc010xbz.1_Missense_Mutation_p.T298M|DTNA_uc010xca.1_Missense_Mutation_p.T241M|DTNA_uc002kye.2_Missense_Mutation_p.T237M	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	589					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0						CCGACGCACACGCCGCAGGAC	0.582													T	32455306	C	T	32455306	3	4	49	1	0	0	0	0	1	0	0	0	4788	536	19	1	1922	1	DTNA	18	32455306	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1128848	32455306	45621942	1414	40295											
SLC39A6	25800	broad.mit.edu	37	chr18	33706548	33706548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgggcaaagagcttttcgCttatttttaccagaagcagc	9	9	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:33706548C>T	uc010dmy.2	-	2	713	c.423G>A	c.(421-423)AAG>AAA	p.K141K	SLC39A6_uc002kzj.2_Intron	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	141	Extracellular (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2						GAGCTTTTCGCTTATTTTTAC	0.289													T	33706548	C	T	33706548	2	4	49	1	0	0	0	0	0	0	0	1	14622	796	28	2		2	SLC39A6	18	33706548	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1251242	33706548	44370700	1415	40296											
ELP2	55250	broad.mit.edu	37	chr18	33726340	33726340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaacagaatacagttaAcccagtaagaaaagagtgtt	9	5	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:33726340A>G	uc002kzk.1	+	11	1131	c.1121A>G	c.(1120-1122)AAC>AGC	p.N374S	ELP2_uc010xcg.1_Missense_Mutation_p.N439S|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.N348S|ELP2_uc010xch.1_Intron|ELP2_uc002kzn.1_Intron|ELP2_uc002kzo.1_Missense_Mutation_p.N304S	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	374	WD 7.				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4						AATACAGTTAACCCAGTAAGA	0.348													G	33726340	A	G	33726340	3	3	49	1	0	0	0	0	1	0	0	0	5080	43	2	3	1163	3	ELP2	18	33726340	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	19792	33726340	44350908	1416	40297											
ACAA2	10449	broad.mit.edu	37	chr18	47311699	47311699	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctctcaacagccaagtacTggggagcaaaagcttcattc	8	12	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:47311699T>C	uc002ldw.3	-	9	1374	c.977A>G	c.(976-978)CAG>CGG	p.Q326R	ACAA2_uc002ldx.3_Missense_Mutation_p.Q323R	NM_006111	NP_006102	P42765	THIM_HUMAN	acetyl-coenzyme A acyltransferase 2	326					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1						AGCCAAGTACTGGGGAGCAAA	0.403													C	47311699	T	C	47311699	3	2	49	1	0	0	0	0	1	0	0	0	105	1580	55	3	224	3	ACAA2	18	47311699	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	13585359	47311699	30765549	1417	40298											
CCDC68	80323	broad.mit.edu	37	chr18	52571597	52571597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccagccagttcatttccGtaacctaatcaacattaaat	3	12	2	0	rs141183307		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:52571597G>A	uc002lfs.2	-	12	1172	c.1000C>T	c.(1000-1002)CGG>TGG	p.R334W	CCDC68_uc002lft.2_Missense_Mutation_p.R334W	NM_001143829	NP_001137301	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	334										skin(1)	1				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		GTTCATTTCCGTAACCTAATC	0.363													A	52571597	G	A	52571597	3	1	49	1	0	0	0	0	1	0	0	0	2840	1144	40	1	11	1	CCDC68	18	52571597	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	5259898	52571597	25505651	1418	40299											
ALPK2	115701	broad.mit.edu	37	chr18	56246941	56246941	+	Frame_Shift_Del	DEL	A	A	-													cttcgtcatcgctttctaatAaaaaaacatgctcagtcccc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:56246940_56246940TA>T	uc002lhj.4	-	3	1282	c.1068_1068TA>A	c.(1066-1068)ttafs	p.L356fs		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	356							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CGCTTTCTAATAAAAAAACAT	0.483											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	56246941	A	-	56246941	7	5	49	1	0	1	0	1	0	0	0	0	545	372	13	0	5485	0	ALPK2	18	56246941	Frame_Shift_Del	DEL	A	TCGA-BR-7707-01A-11D-2053-08	3675344	56246941	21830307	1419	40300											
ZNF532	55205	broad.mit.edu	37	chr18	56651464	56651464	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtccaggcacctcttcatCgtacacaagttaaaggaacc	7	13	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:56651464C>T	uc002lho.2	+	11	4219	c.3672C>T	c.(3670-3672)ATC>ATT	p.I1224I	ZNF532_uc002lhp.2_Silent_p.I1222I|ZNF532_uc010xeg.1_Silent_p.I1222I|ZNF532_uc002lhr.2_Silent_p.I1222I|ZNF532_uc002lhs.2_Silent_p.I1222I|ZNF532_uc010xeh.1_Silent_p.I312I	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1224	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						ACCTCTTCATCGTACACAAGT	0.532													T	56651464	C	T	56651464	2	4	49	1	0	0	0	0	0	0	0	1	17969	874	31	1		1	ZNF532	18	56651464	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	404523	56651464	21425784	1420	40301											
SERPINB4	6318	broad.mit.edu	37	chr18	61305030	61305030	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaataggaaagggtgatTacaacagaactcttcattag	10	5	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:61305030T>C	uc002ljf.2	-	8	1182	c.1096A>G	c.(1096-1098)AAT>GAT	p.N366D	SERPINB4_uc002lje.2_Missense_Mutation_p.N345D|SERPINB4_uc002ljg.2_Missense_Mutation_p.N366D	NM_002974	NP_002965	P48594	SPB4_HUMAN	serine (or cysteine) proteinase inhibitor, clade	366					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3						AAAGGGTGATTACAACAGAAC	0.443													C	61305030	T	C	61305030	3	2	49	1	0	0	0	0	1	0	0	0	14103	1754	61	3	80	3	SERPINB4	18	61305030	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	4653566	61305030	16772218	1421	40302											
SERPINB8	5271	broad.mit.edu	37	chr18	61649053	61649053	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagcatataaatgactgGgtggcagagaagactgaagg	15	4	0	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:61649053G>A	uc002ljv.2	+	4	574	c.405G>A	c.(403-405)TGG>TGA	p.W135*	SERPINB8_uc002ljs.1_Nonsense_Mutation_p.W135*|SERPINB8_uc002ljt.2_Nonsense_Mutation_p.W135*|SERPINB8_uc002lju.2_Nonsense_Mutation_p.W135*|SERPINB8_uc010xex.1_5'UTR	NM_198833	NP_942130	P50452	SPB8_HUMAN	serine (or cysteine) proteinase inhibitor, clade	135					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			skin(1)	1		Esophageal squamous(42;0.129)				TAAATGACTGGGTGGCAGAGA	0.443													A	61649053	G	A	61649053	4	1	49	1	0	0	0	0	0	1	0	0	14107	1241	43	4	415	4	SERPINB8	18	61649053	Nonsense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	344023	61649053	16428195	1422	40303											
TMX3	54495	broad.mit.edu	37	chr18	66350180	66350180	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actccatcagcaaggtatttAtgtagtcatttccatccatg	6	10	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:66350180A>G	uc002lkf.2	-	13	1022	c.887T>C	c.(886-888)ATA>ACA	p.I296T	TMX3_uc010xez.1_Missense_Mutation_p.I155T	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN	thioredoxin domain containing 10 precursor	296	Lumenal (Potential).				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			skin(1)	1						CAAGGTATTTATGTAGTCATT	0.363													G	66350180	A	G	66350180	3	3	49	1	0	0	0	0	1	0	0	0	16265	449	16	3	493	3	TMX3	18	66350180	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	4701127	66350180	11727068	1423	40304											
RTTN	25914	broad.mit.edu	37	chr18	67684828	67684828	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatattcaggagtaacttcAaccaaagaatagtcagatta	6	6	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:67684828A>G	uc002lkp.2	-	46	6304	c.6236T>C	c.(6235-6237)TTG>TCG	p.L2079S	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.L1167S|RTTN_uc002lkn.2_Missense_Mutation_p.L69S|RTTN_uc010dqp.2_Missense_Mutation_p.L331S	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	2079							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				GAGTAACTTCAACCAAAGAAT	0.378													G	67684828	A	G	67684828	3	3	49	1	0	0	0	0	1	0	0	0	13737	131	5	3	460	3	RTTN	18	67684828	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1334648	67684828	10392420	1424	40305											
CBLN2	147381	broad.mit.edu	37	chr18	70205584	70205584	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaaggccgagatcactgGgtagccattctgcattaaac	10	10	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:70205584G>T	uc002lku.2	-	4	737	c.502C>A	c.(502-504)CCA>ACA	p.P168T	CBLN2_uc002lkv.2_Missense_Mutation_p.P168T	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	168	C1q.					integral to membrane					0		Esophageal squamous(42;0.131)				GAGATCACTGGGTAGCCATTC	0.493													T	70205584	G	T	70205584	3	4	49	1	0	0	0	0	1	0	0	0	2705	1232	43	5	176	5	CBLN2	18	70205584	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2520756	70205584	7871664	1425	40306											
FBXO15	201456	broad.mit.edu	37	chr18	71740785	71740785	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtattcttcggtctctctgaTccacaccagctccacgtgca	7	15	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:71740785T>A	uc002lle.2	-	10	1552	c.1216A>T	c.(1216-1218)ATC>TTC	p.I406F	FBXO15_uc002lld.2_RNA|FBXO15_uc002llf.2_Missense_Mutation_p.I482F	NM_152676	NP_689889	Q8NCQ5	FBX15_HUMAN	F-box protein 15 isoform 1	406										ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GTCTCTCTGATCCACACCAGC	0.483													A	71740785	T	A	71740785	3	1	49	1	0	0	0	0	1	0	0	0	5728	1435	50	5	92	5	FBXO15	18	71740785	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1535201	71740785	6336463	1426	40307											
SALL3	27164	broad.mit.edu	37	chr18	76754750	76754750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcttccgctccaagtcccCgggcctgggcgccccggagg	15	17	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:76754750C>T	uc002lmt.2	+	2	2759	c.2759C>T	c.(2758-2760)CCG>CTG	p.P920L	SALL3_uc010dra.2_Missense_Mutation_p.P527L	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	920					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCCAAGTCCCCGGGCCTGGGC	0.602													T	76754750	C	T	76754750	3	4	49	1	0	0	0	0	1	0	0	0	13812	652	23	1	2765	1	SALL3	18	76754750	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	5013965	76754750	1322498	1427	40308											
PRSSL1	400668	broad.mit.edu	37	chr19	691994	691994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaccaccaggccagtgCggaggtctctgcagggagga	15	13	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:691994C>T	uc002lpl.1	-	3	276	c.245G>A	c.(244-246)CGC>CAC	p.R82H	PRSSL1_uc010xfs.1_Missense_Mutation_p.R81H	NM_214710	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine-like 1 precursor	82	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGCCAGTGCGGAGGTCTCT	0.637													T	691994	C	T	691994	3	4	49	1	0	0	0	0	1	0	0	0	12636	768	27	1	618	1	PRSSL1	19	691994	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08		691994	58436989	1428	40309											
C19orf22	91300	broad.mit.edu	37	chr19	902066	902066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgatgaagtgctgtttccGcctggaagccgagagtctct	13	9	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:902066G>A	uc002lqg.2	-	2	204	c.136C>T	c.(136-138)CGG>TGG	p.R46W	C19orf22_uc002lqh.2_Missense_Mutation_p.R25W|C19orf22_uc002lqi.2_Missense_Mutation_p.R46W|C19orf22_uc002lqj.2_5'UTR	NM_138774	NP_620129	Q96D70	CS022_HUMAN	hypothetical protein LOC91300	46						nucleus	nucleic acid binding			pancreas(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGTTTCCGCCTGGAAGCC	0.657													A	902066	G	A	902066	3	1	49	1	0	0	0	0	1	0	0	0	1914	1086	38	1	698	1	C19orf22	19	902066	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	210072	902066	58226917	1429	40310											
POLR2E	5434	broad.mit.edu	37	chr19	1095303	1095303	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagagccggtacgtctcctcCtcgtcgtccatggcagcctc	10	17	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:1095303C>G	uc002lre.3	-	1	89	c.12G>C	c.(10-12)GAG>GAC	p.E4D	POLR2E_uc010xgf.1_RNA	NM_002695	NP_002686	P19388	RPAB1_HUMAN	DNA directed RNA polymerase II polypeptide E	4					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTCTCCTCCTCGTCGTCCA	0.612													G	1095303	C	G	1095303	3	3	49	1	0	0	0	0	1	0	0	0	12218	680	24	5	648	5	POLR2E	19	1095303	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	193237	1095303	58033680	1430	40311											
GAMT	2593	broad.mit.edu	37	chr19	1398959	1398960	+	Frame_Shift_Ins	INS	-	-	C													tacttggacttcatcagctcINScccccaggaggtgaggttgc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:1398958_1398959T>TC	uc002lsj.3	-	4	603_604	c.526_527A>GA	c.(526-528)gagfs	p.E176fs	AK126693_uc002lsi.1_5'Flank|GAMT_uc002lsk.3_Frame_Shift_Ins_p.E176fs	NM_000156	NP_000147	Q14353	GAMT_HUMAN	Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 1, mRNA.	176					creatine biosynthetic process|muscle contraction	cytosol	guanidinoacetate N-methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Creatine(DB00148)	CTTCATCAGCTCCCCCCAGGAG	0.604													C	1398960	-	C	1398959	7	5	49	1	0	1	1	0	0	0	0	0	6231	864	30	0	432	0	GAMT	19	1398959	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	303656	1398959	57730024	1431	40312											
ADAMTSL5	339366	broad.mit.edu	37	chr19	1507635	1507635	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcacgttccagtacccagcGaaggcacctgggtgggaggg	16	11	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:1507635G>A	uc002ltd.2	-	8	1053	c.609C>T	c.(607-609)TTC>TTT	p.F203F	ADAMTSL5_uc010dsl.2_5'UTR|ADAMTSL5_uc010xgq.1_Silent_p.F213F	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5 precursor	203						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTACCCAGCGAAGGCACCTG	0.517													A	1507635	G	A	1507635	2	1	49	1	0	0	0	0	0	0	0	1	278	1049	37	1		1	ADAMTSL5	19	1507635	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	108676	1507635	57621348	1432	40313											
TLE6	79816	broad.mit.edu	37	chr19	2991927	2991927	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtccggatgcctgtctgcGgtgctgggaccagaggacca	17	11	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:2991927G>T	uc002lwu.2	+	13	1362	c.962G>T	c.(961-963)CGG>CTG	p.R321L	TLE6_uc002lwt.2_Missense_Mutation_p.R444L|TLE6_uc010dtg.2_Missense_Mutation_p.R444L|TLE6_uc002lwv.2_Missense_Mutation_p.R225L	NM_024760	NP_079036	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 isoform 2	321	WD 4.				regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTGTCTGCGGTGCTGGGAC	0.582													T	2991927	G	T	2991927	3	4	49	1	0	0	0	0	1	0	0	0	15939	1116	39	5	1381	5	TLE6	19	2991927	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1484292	2991927	56137056	1433	40314											
TLE2	7089	broad.mit.edu	37	chr19	3005947	3005947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcagcaacttgcaggaaCgaatgtagttgtctcggttc	12	10	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:3005947C>T	uc002lww.2	-	16	1783	c.1520G>A	c.(1519-1521)CGT>CAT	p.R507H	TLE2_uc010xhb.1_Missense_Mutation_p.R174H|TLE2_uc010dth.2_Missense_Mutation_p.R508H|TLE2_uc010xhc.1_Missense_Mutation_p.R385H|TLE2_uc010dti.2_Missense_Mutation_p.R521H	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	507	WD 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGCAGGAACGAATGTAGTT	0.632													T	3005947	C	T	3005947	3	4	49	1	0	0	0	0	1	0	0	0	15936	536	19	1	731	1	TLE2	19	3005947	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	14020	3005947	56123036	1434	40315											
DAPK3	1613	broad.mit.edu	37	chr19	3959269	3959271	+	In_Frame_Del	DEL	CCT	CCT	-													ccccagcagcgcgcccttggCctcctcctgcgcctgccgct							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:3959269_3959271delCCT	uc002lzc.1	-	8	1286_1288	c.1193_1195delAGG	c.(1192-1197)GAGGCC>GCC	p.E398del	DAPK3_uc002lzb.1_In_Frame_Del_p.E135del|DAPK3_uc002lzd.1_In_Frame_Del_p.E398del	NM_001348	NP_001339	O43293	DAPK3_HUMAN	death-associated protein kinase 3	398	Interaction with CDC5L (By similarity).				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCCCTTGGCCTCCTCCTGCGC	0.704													-	3959271	CCT	-	3959269	7	5	49	1	0	1	0	1	0	0	0	0	4237	739	26	0	173	0	DAPK3	19	3959269	In_Frame_Del	DEL	CCT	TCGA-BR-7707-01A-11D-2053-08	953322	3959269	55169714	1435	40316											
EEF2	1938	broad.mit.edu	37	chr19	3977944	3977944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaaagcaccagatcttgCgggcctcagccacgtcccac	9	18	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:3977944C>T	uc002lze.2	-	12	2023	c.1940G>A	c.(1939-1941)CGC>CAC	p.R647H		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	647						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGATCTTGCGGGCCTCAGC	0.632													T	3977944	C	T	3977944	3	4	49	1	0	0	0	0	1	0	0	0	4929	768	27	1	652	1	EEF2	19	3977944	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	18675	3977944	55151039	1436	40317											
KDM4B	23030	broad.mit.edu	37	chr19	5032920	5032920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggggtctgaggaccacGgcgcccagaaccccagctgt	13	15	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:5032920G>A	uc002mbq.3	+	3	245	c.19G>A	c.(19-21)GGC>AGC	p.G7S	KDM4B_uc010xil.1_Missense_Mutation_p.G7S|KDM4B_uc010xim.1_Missense_Mutation_p.G7S	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	7					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						TGAGGACCACGGCGCCCAGAA	0.572													A	5032920	G	A	5032920	3	1	49	1	0	0	0	0	1	0	0	0	8129	1116	39	1	21	1	KDM4B	19	5032920	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1054976	5032920	54096063	1437	40318											
KDM4B	23030	broad.mit.edu	37	chr19	5131974	5131974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggccggccgcccacccGgtccccactgtcggtggtga	14	18	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:5131974G>A	uc002mbq.3	+	13	2088	c.1862G>A	c.(1861-1863)CGG>CAG	p.R621Q	KDM4B_uc010xim.1_Missense_Mutation_p.R655Q|KDM4B_uc002mbr.3_Missense_Mutation_p.R379Q	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	621					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						CCGCCCACCCGGTCCCCACTG	0.632													A	5131974	G	A	5131974	3	1	49	1	0	0	0	0	1	0	0	0	8129	1116	39	1	1904	1	KDM4B	19	5131974	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	99054	5131974	53997009	1438	40319											
KDM4B	23030	broad.mit.edu	37	chr19	5144151	5144151	+	Frame_Shift_Del	DEL	G	G	-													acctgcctcaagcacaagtcGgggggtcacgctgtgagtgc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:5144150_5144150CG>C	uc010xim.2	+	18	2933	c.2825_2825CG>C	c.(2824-2826)tcgfs	p.S942fs	KDM4B_uc002mbq.4_Frame_Shift_Del_p.S908fs|KDM4B_uc002mbr.4_Frame_Shift_Del_p.S666fs	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	908	Tudor 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AAGCACAAGTCGGGGGGTCAC	0.711													-	5144151	G	-	5144151	7	5	49	1	0	1	0	1	0	0	0	0	8129	1103	39	0	2790	0	KDM4B	19	5144151	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	12177	5144151	53984832	1439	40320											
PTPRS	5802	broad.mit.edu	37	chr19	5214592	5214592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgacttctcctccagccGcgtcatcatgacgatggtcg	10	15	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:5214592G>A	uc002mbv.2	-	29	4708	c.4474C>T	c.(4474-4476)CGG>TGG	p.R1492W	PTPRS_uc002mbu.1_Missense_Mutation_p.R1061W|PTPRS_uc010xin.1_Missense_Mutation_p.R1034W|PTPRS_uc002mbw.2_Missense_Mutation_p.R1454W|PTPRS_uc002mbx.2_Missense_Mutation_p.R1049W|PTPRS_uc002mby.2_Missense_Mutation_p.R1045W	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1492	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TCCTCCAGCCGCGTCATCATG	0.637													A	5214592	G	A	5214592	3	1	49	1	0	0	0	0	1	0	0	0	12811	1086	38	1	1412	1	PTPRS	19	5214592	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	70441	5214592	53914391	1440	40321											
RFX2	5990	broad.mit.edu	37	chr19	6042100	6042100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcccccttccacgtactgcAcctgggcaggatacacgtgc	9	17	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:6042100A>G	uc002meb.2	-	4	484	c.215T>C	c.(214-216)GTG>GCG	p.V72A	RFX2_uc002mec.2_Missense_Mutation_p.V72A|RFX2_uc010xiy.1_Missense_Mutation_p.V27A	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						CACGTACTGCACCTGGGCAGG	0.607													G	6042100	A	G	6042100	3	3	49	1	0	0	0	0	1	0	0	0	13263	159	6	3	2016	3	RFX2	19	6042100	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	827508	6042100	53086883	1441	40322											
EMR1	2015	broad.mit.edu	37	chr19	6901939	6901939	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagcatgcaacttgtaatAacactgttggaaactactct	7	9	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:6901939A>G	uc002mfw.2	+	6	606	c.568A>G	c.(568-570)AAC>GAC	p.N190D	EMR1_uc010dvc.2_Missense_Mutation_p.N190D|EMR1_uc010dvb.2_Missense_Mutation_p.N138D|EMR1_uc010xji.1_Intron|EMR1_uc010xjj.1_Intron	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	190	Extracellular (Potential).|EGF-like 4; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					AACTTGTAATAACACTGTTGG	0.463													G	6901939	A	G	6901939	3	3	49	1	0	0	0	0	1	0	0	0	5104	362	13	3	590	3	EMR1	19	6901939	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	859839	6901939	52227044	1442	40323											
MCOLN1	57192	broad.mit.edu	37	chr19	7591468	7591468	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgcgggagcagctgtaccaGgccatcttccatgctgtgga	13	12	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:7591468G>T	uc002mgo.2	+	3	506	c.381G>T	c.(379-381)CAG>CAT	p.Q127H	MCOLN1_uc002mgp.2_Missense_Mutation_p.R14M	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	mucolipin 1	127					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(1)	1						AGCTGTACCAGGCCATCTTCC	0.388													T	7591468	G	T	7591468	3	4	49	1	0	0	0	0	1	0	0	0	9395	991	35	5	391	5	MCOLN1	19	7591468	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	689529	7591468	51537515	1443	40324											
KIAA1543	57662	broad.mit.edu	37	chr19	7675435	7675435	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtgcaggatttctgtgcCtctcgccttcctcgtggctg	11	14	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:7675435C>A	uc002mgv.3	+	6	935	c.834C>A	c.(832-834)GCC>GCA	p.A278A	KIAA1543_uc002mgu.3_Silent_p.A305A	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	278	CH.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						ATTTCTGTGCCTCTCGCCTTC	0.642													A	7675435	C	A	7675435	2	1	49	1	0	0	0	0	0	0	0	1	8243	668	24	5		5	KIAA1543	19	7675435	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	83967	7675435	51453548	1444	40325											
LRRC8E	80131	broad.mit.edu	37	chr19	7965709	7965710	+	Frame_Shift_Ins	INS	-	-	G													agaagaacttggcaactgtgINSgggggctcaagaaggcgggg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:7965708_7965709T>TG	uc002mir.3	+	2	2402_2403	c.2301_2302T>TG	c.(2299-2304)tgtgggfs	p.C767fs		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	767						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TTGGCAACTGTGGGGGGCTCAA	0.634													G	7965710	-	G	7965709	7	5	49	1	0	1	1	0	0	0	0	0	9025	1348	47	0	2308	0	LRRC8E	19	7965709	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	290274	7965709	51163274	1445	40326											
MAP2K7	5609	broad.mit.edu	37	chr19	7975006	7975006	+	Frame_Shift_Del	DEL	G	G	-													agacgggctacctgaccatcGggggccaggtaccaccttca							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:7975006delG	uc002mit.2	+	3	390	c.325delG	c.(325-327)GGGfs	p.G109fs	MAP2K7_uc002miv.2_Frame_Shift_Del_p.G109fs|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Frame_Shift_Del_p.G109fs|MAP2K7_uc010dvv.2_5'UTR	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	109					activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	CCTGACCATCGGGGGCCAGGT	0.667													-	7975006	G	-	7975006	7	5	49	1	0	1	0	1	0	0	0	0	9242	1116	39	0	335	0	MAP2K7	19	7975006	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	9297	7975006	51153977	1446	40327											
FBN3	84467	broad.mit.edu	37	chr19	8171075	8171075	+	Frame_Shift_Del	DEL	C	C	-													caaacgtgttgacgcagtcaCccccctgacacagccctggc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:8171074_8171074AC>A	uc002mjf.3	-	36	4748	c.4731_4731GT>T	c.(4729-4731)ggtfs	p.G1577fs		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1577	EGF-like 24; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGACGCAGTCACCCCCCTGAC	0.562													-	8171075	C	-	8171075	7	5	49	1	0	1	0	1	0	0	0	0	5704	507	18	0	3807	0	FBN3	19	8171075	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	196069	8171075	50957908	1447	40328											
MYO1F	4542	broad.mit.edu	37	chr19	8595150	8595150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcttgcccaggaactgaCgcagctcgggccgctcctcc	10	19	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:8595150C>T	uc002mkg.2	-	21	2372	c.2258G>A	c.(2257-2259)CGT>CAT	p.R753H		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	753						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						CAGGAACTGACGCAGCTCGGG	0.617													T	8595150	C	T	8595150	3	4	49	1	0	0	0	0	1	0	0	0	10073	536	19	1	1070	1	MYO1F	19	8595150	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	424075	8595150	50533833	1448	40329											
ACTL9	284382	broad.mit.edu	37	chr19	8807821	8807821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtagcatttgcggtacaCgatatagggaccctgttcct	10	10	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:8807821C>T	uc002mkl.2	-	1	1352	c.1231G>A	c.(1231-1233)GTG>ATG	p.V411M		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	411						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						TTGCGGTACACGATATAGGGA	0.632													T	8807821	C	T	8807821	3	4	49	1	0	0	0	0	1	0	0	0	203	536	19	1	23	1	ACTL9	19	8807821	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	212671	8807821	50321162	1449	40330											
OR7D2	162998	broad.mit.edu	37	chr19	9296577	9296577	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtacctggtgacggtgctGggaaacctgctcatcatcct	11	11	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:9296577G>A	uc002mkz.1	+	1	308	c.120G>A	c.(118-120)CTG>CTA	p.L40L		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D,	40	Helical; Name=1; (Potential).				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|upper_aerodigestive_tract(1)	3						TGACGGTGCTGGGAAACCTGC	0.512													A	9296577	G	A	9296577	2	1	49	1	0	0	0	0	0	0	0	1	11219	1335	47	4		4	OR7D2	19	9296577	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	488756	9296577	49832406	1450	40331											
ZNF699	374879	broad.mit.edu	37	chr19	9406947	9406947	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcctcccatgtacagtgAgttttgaggactcgctgaag	12	9	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:9406947A>G	uc002mlc.1	-	5	1133	c.1133T>C	c.(1132-1134)CTC>CCC	p.L378P		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	zinc finger protein 699	378	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATGTACAGTGAGTTTTGAGGA	0.423													G	9406947	A	G	9406947	3	3	49	1	0	0	0	0	1	0	0	0	18098	304	11	3	799	3	ZNF699	19	9406947	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	110370	9406947	49722036	1451	40332											
ZNF426	79088	broad.mit.edu	37	chr19	9639131	9639131	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgctgacatttatagggTttctcttctgtgtgagtttt	9	6	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:9639131T>G	uc002mlq.2	-	8	1854	c.1590A>C	c.(1588-1590)AAA>AAC	p.K530N	ZNF426_uc010dws.2_Missense_Mutation_p.K492N	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	zinc finger protein 426	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATTTATAGGGTTTCTCTTCTG	0.418													G	9639131	T	G	9639131	3	3	49	1	0	0	0	0	1	0	0	0	17897	1722	60	5	78	5	ZNF426	19	9639131	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	232184	9639131	49489852	1452	40333											
OLFM2	93145	broad.mit.edu	37	chr19	9968005	9968005	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgttgctgcaggtcctcatAcccgtaggcacccatctcct	8	17	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:9968005A>G	uc002mmp.2	-	4	542	c.514T>C	c.(514-516)TAT>CAT	p.Y172H	OLFM2_uc002mmo.2_Missense_Mutation_p.Y94H	NM_058164	NP_477512	O95897	NOE2_HUMAN	olfactomedin 2 precursor	172	Potential.					extracellular region				large_intestine(1)|skin(1)	2						AGGTCCTCATACCCGTAGGCA	0.637													G	9968005	A	G	9968005	3	3	49	1	0	0	0	0	1	0	0	0	10853	391	14	3	862	3	OLFM2	19	9968005	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	328874	9968005	49160978	1453	40334											
ANGPTL6	83854	broad.mit.edu	37	chr19	10203376	10203376	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcttcggtagtggccgccGtggtgccacacaccgttgag	15	13	0	1	rs138536720		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:10203376G>A	uc002mmx.1	-	6	1420	c.1302C>T	c.(1300-1302)CAC>CAT	p.H434H	C19orf66_uc002mmu.3_3'UTR|C19orf66_uc002mmv.3_3'UTR|C19orf66_uc002mmw.3_3'UTR|ANGPTL6_uc002mmy.1_Silent_p.H434H	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6 precursor	434	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding				0			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			AGTGGCCGCCGTGGTGCCACA	0.622													A	10203376	G	A	10203376	2	1	49	1	0	0	0	0	0	0	0	1	618	1136	40	1		1	ANGPTL6	19	10203376	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	235371	10203376	48925607	1454	40335											
KEAP1	9817	broad.mit.edu	37	chr19	10610476	10610476	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttgacctgcagtgtgacGtcacacagctgctggctgag	12	11	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:10610476G>A	uc002moq.1	-	2	390	c.234C>T	c.(232-234)GAC>GAT	p.D78D	KEAP1_uc002mor.1_Silent_p.D78D	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	78	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCAGTGTGACGTCACACAGCT	0.597													A	10610476	G	A	10610476	2	1	49	1	0	0	0	0	0	0	0	1	8141	1136	40	1		1	KEAP1	19	10610476	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	407100	10610476	48518507	1455	40336											
TSPAN16	26526	broad.mit.edu	37	chr19	11408917	11408917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccgcatacctccttcacGttggcaacctgtgcctggtg	9	16	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:11408917G>A	uc002mqv.1	+	2	319	c.169G>A	c.(169-171)GTT>ATT	p.V57I	TSPAN16_uc002mqu.1_RNA	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	transmembrane 4 superfamily member 16	57	Helical; (Potential).					integral to membrane				skin(1)	1						CCTCCTTCACGTTGGCAACCT	0.572													A	11408917	G	A	11408917	3	1	49	1	0	0	0	0	1	0	0	0	16637	1145	40	1	175	1	TSPAN16	19	11408917	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	798441	11408917	47720066	1456	40337											
LPPR2	64748	broad.mit.edu	37	chr19	11471930	11471930	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttcaccacgaccatcttCgccaacgcggggcaggtggt	11	15	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:11471930C>T	uc002mre.1	+	6	766	c.429C>T	c.(427-429)TTC>TTT	p.F143F	LPPR2_uc002mrf.1_Silent_p.F118F|LPPR2_uc010dxy.1_5'UTR	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN	lipid phosphate phosphatase-related protein type	143	Helical; (Potential).					integral to membrane	phosphatidate phosphatase activity			large_intestine(1)	1						CGACCATCTTCGCCAACGCGG	0.642													T	11471930	C	T	11471930	2	4	49	1	0	0	0	0	0	0	0	1	8925	883	31	1		1	LPPR2	19	11471930	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	63013	11471930	47657053	1457	40338											
ACP5	54	broad.mit.edu	37	chr19	11687099	11687099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacaggtaggcagtgacccCgtatgtggccagcagtggcc	15	12	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:11687099C>T	uc002msg.3	-	4	840	c.694G>A	c.(694-696)GGG>AGG	p.G232R	ACP5_uc002msh.3_Missense_Mutation_p.G232R|ACP5_uc002msi.3_Missense_Mutation_p.G232R|ACP5_uc002msj.3_Missense_Mutation_p.G232R	NM_001611	NP_001602	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	232					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			central_nervous_system(1)	1						GCAGTGACCCCGTATGTGGCC	0.662													T	11687099	C	T	11687099	3	4	49	1	0	0	0	0	1	0	0	0	164	652	23	1	291	1	ACP5	19	11687099	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	215169	11687099	47441884	1458	40339											
ZNF700	90592	broad.mit.edu	37	chr19	12058330	12058330	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtgtctgtattttaggAaaaaaatggagtgaccagaa	10	4	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:12058330A>G	uc002msu.2	+	3	318	c.192A>G	c.(190-192)GGA>GGG	p.G64G	ZNF700_uc010xme.1_Silent_p.G82G|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTATTTTAGGAAAAAAATGGA	0.368													G	12058330	A	G	12058330	2	3	49	1	0	0	0	0	0	0	0	1	18101	260	9	3		3	ZNF700	19	12058330	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	371231	12058330	47070653	1459	40340											
ZNF563	147837	broad.mit.edu	37	chr19	12430217	12430218	+	Frame_Shift_Ins	INS	-	-	A													atacgtaataaactgggccaINSaaaaaaagctttcccacaca							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:12430216_12430217C>CA	uc002mtp.3	-	3	860_861	c.622_623G>TG	c.(622-624)tggfs	p.W208fs	ZNF563_uc002mtq.2_Intron	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	Homo sapiens zinc finger protein 563 (ZNF563), mRNA.	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TAAACTGGGCCAAAAAAAAGCT	0.391													A	12430218	-	A	12430217	7	5	49	1	0	1	1	0	0	0	0	0	17991	130	5	0	812	0	ZNF563	19	12430217	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	371887	12430217	46698766	1460	40341											
MAN2B1	4125	broad.mit.edu	37	chr19	12769060	12769060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaagttgtagctgaggCgctcgtagcgtttgagggcc	17	8	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:12769060C>T	uc002mub.2	-	9	1284	c.1208G>A	c.(1207-1209)CGC>CAC	p.R403H	MAN2B1_uc010dyv.1_Missense_Mutation_p.R402H	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	403					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						GTAGCTGAGGCGCTCGTAGCG	0.632													T	12769060	C	T	12769060	3	4	49	1	0	0	0	0	1	0	0	0	9216	768	27	1	1891	1	MAN2B1	19	12769060	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	338843	12769060	46359923	1461	40342											
RTBDN	83546	broad.mit.edu	37	chr19	12939514	12939514	+	Frame_Shift_Del	DEL	C	C	-													gagcggctgtgcctggcgtaCccccaatagccgcaggcgga							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:12939513_12939513AC>A	uc002mvj.3	-	4	737	c.419_419GT>T	c.(418-420)gtafs	p.V140fs	RTBDN_uc002mvh.1_Frame_Shift_Del_p.V140fs|RTBDN_uc002mvi.3_Frame_Shift_Del_p.V108fs|RTBDN_uc021upo.1_Frame_Shift_Del_p.V118fs	NM_031429	NP_001074466	Q9BSG5	RTBDN_HUMAN	Homo sapiens retbindin (RTBDN), transcript variant 2, mRNA.	108						extracellular region				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						TGCCTGGCGTACCCCCAATAG	0.657													-	12939514	C	-	12939514	7	5	49	1	0	1	0	1	0	0	0	0	13717	507	18	0	379	0	RTBDN	19	12939514	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	170454	12939514	46189469	1462	40343											
ZSWIM4	65249	broad.mit.edu	37	chr19	13919924	13919924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggactccaacggggcgcGcatgctgattctcatgaccg	14	13	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:13919924G>A	uc002mxh.1	+	5	1091	c.902G>A	c.(901-903)CGC>CAC	p.R301H	ZSWIM4_uc010xng.1_Missense_Mutation_p.R107H	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	301							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			AACGGGGCGCGCATGCTGATT	0.687													A	13919924	G	A	13919924	3	1	49	1	0	0	0	0	1	0	0	0	18240	1087	38	1	920	1	ZSWIM4	19	13919924	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	980410	13919924	45209059	1463	40344											
NANOS3	342977	broad.mit.edu	37	chr19	13988138	13988138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctgagtgggaaagagggtCctgaaaccaggctgagcccc	14	11	1	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:13988138C>T	uc002mxj.3	+	1	189	c.76C>T	c.(76-78)CCT>TCT	p.P26S		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	nanos homolog 3	26					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAAAGAGGGTCCTGAAACCAG	0.642													T	13988138	C	T	13988138	3	4	49	1	0	0	0	0	1	0	0	0	10153	855	30	4	78	4	NANOS3	19	13988138	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	68214	13988138	45140845	1464	40345											
LPHN1	22859	broad.mit.edu	37	chr19	14269224	14269224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttgttgatggatgctgCgatgacctgtgagttcacca	11	10	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:14269224C>T	uc010xnn.1	-	13	2601	c.2305G>A	c.(2305-2307)GCA>ACA	p.A769T	LPHN1_uc010xno.1_Missense_Mutation_p.A764T|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	769	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						ATGGATGCTGCGATGACCTGT	0.642													T	14269224	C	T	14269224	3	4	49	1	0	0	0	0	1	0	0	0	8915	768	27	1	2167	1	LPHN1	19	14269224	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	281086	14269224	44859759	1465	40346											
CCDC105	126402	broad.mit.edu	37	chr19	15132166	15132166	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcctgggcatttgcagcGtgcgccttggcgctaaacga	13	12	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:15132166G>A	uc002nae.2	+	4	975	c.876G>A	c.(874-876)GCG>GCA	p.A292A		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	292					microtubule cytoskeleton organization	microtubule				ovary(1)	1						CATTTGCAGCGTGCGCCTTGG	0.617													A	15132166	G	A	15132166	2	1	49	1	0	0	0	0	0	0	0	1	2740	1159	40	1		1	CCDC105	19	15132166	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	862942	15132166	43996817	1466	40347											
NOTCH3	4854	broad.mit.edu	37	chr19	15296358	15296358	+	Frame_Shift_Del	DEL	G	G	-													catgggcacagggatggctcGgggggaggcagagtgggggc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:15296357_15296357CG>C	uc002nan.3	-	12	2161	c.2085_2085CG>G	c.(2083-2085)ccgfs	p.P695fs	NOTCH3_uc002nao.1_Frame_Shift_Del_p.P695fs	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	695	EGF-like 18.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGGGATGGCTCGGGGGGAGGC	0.662													-	15296358	G	-	15296358	7	5	49	1	0	1	0	1	0	0	0	0	10550	1116	39	0	4965	0	NOTCH3	19	15296358	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	164192	15296358	43832625	1467	40348											
CYP4F2	8529	broad.mit.edu	37	chr19	16000370	16000370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaagtcgtgcaccaggcGgcaggccctgcggaaacgct	15	12	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:16000370G>A	uc002nbs.1	-	7	831	c.781C>T	c.(781-783)CGC>TGC	p.R261C	CYP4F2_uc010xot.1_Missense_Mutation_p.R112C|CYP4F2_uc010xou.1_Missense_Mutation_p.R112C	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	261					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2						TGCACCAGGCGGCAGGCCCTG	0.562													A	16000370	G	A	16000370	3	1	49	1	0	0	0	0	1	0	0	0	4188	1116	39	1	809	1	CYP4F2	19	16000370	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	704012	16000370	43128613	1468	40349											
CYP4F11	57834	broad.mit.edu	37	chr19	16040401	16040401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcttcatgccctcttccGtgggagtgacctgaaaacaa	9	11	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:16040401G>A	uc002nbu.2	-	3	245	c.209C>T	c.(208-210)ACG>ATG	p.T70M	CYP4F11_uc010eab.1_Missense_Mutation_p.T70M|CYP4F11_uc002nbt.2_Missense_Mutation_p.T70M	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	70					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1						GCCCTCTTCCGTGGGAGTGAC	0.388													A	16040401	G	A	16040401	3	1	49	1	0	0	0	0	1	0	0	0	4186	1145	40	1	1409	1	CYP4F11	19	16040401	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	40031	16040401	43088582	1469	40350											
MED26	9441	broad.mit.edu	37	chr19	16688383	16688383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcctcatgctggtgtgcCggctcgatgagcttctgcca	13	14	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:16688383C>T	uc002nen.1	-	3	519	c.258G>A	c.(256-258)CCG>CCA	p.P86P	MED26_uc002nee.2_RNA	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	86	TFIIS N-terminal.				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			ovary(2)	2						GCTGGTGTGCCGGCTCGATGA	0.692													T	16688383	C	T	16688383	2	4	49	1	0	0	0	0	0	0	0	1	9444	639	23	1		1	MED26	19	16688383	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	647982	16688383	42440600	1470	40351											
TMEM38A	79041	broad.mit.edu	37	chr19	16791318	16791318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcgagtccgcaagatcgCggtgggcatccatcacgccc	14	14	1	1	rs139650677		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:16791318C>T	uc002nes.2	+	3	483	c.392C>T	c.(391-393)GCG>GTG	p.A131V		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	131	Cytoplasmic (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|ovary(1)	3						CGCAAGATCGCGGTGGGCATC	0.527													T	16791318	C	T	16791318	3	4	49	1	0	0	0	0	1	0	0	0	16156	768	27	1	402	1	TMEM38A	19	16791318	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	102935	16791318	42337665	1471	40352											
HAUS8	93323	broad.mit.edu	37	chr19	17179875	17179875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttttcatactgcagatacCgggactcaatcactcttcca	5	13	5	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:17179875C>T	uc002nfe.2	-	3	224	c.113G>A	c.(112-114)CGG>CAG	p.R38Q	HAUS8_uc002nff.2_Missense_Mutation_p.R38Q|HAUS8_uc002nfg.1_5'UTR|HAUS8_uc002nfh.1_Missense_Mutation_p.R38Q	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN	sarcoma antigen NY-SAR-48 isoform a	38				R -> P (in Ref. 5; AAH04398).	cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole					0						CTGCAGATACCGGGACTCAAT	0.532													T	17179875	C	T	17179875	3	4	49	1	0	0	0	0	1	0	0	0	6972	652	23	1	1155	1	HAUS8	19	17179875	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	388557	17179875	41949108	1472	40353											
ANKLE1	126549	broad.mit.edu	37	chr19	17396335	17396335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctacgtgggcaaagggaCgagggcccggccatatgtcc	14	12	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:17396335C>T	uc002nga.2	+	7	1748	c.1472C>T	c.(1471-1473)ACG>ATG	p.T491M	ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Missense_Mutation_p.T487M|ANKLE1_uc010xpn.1_Missense_Mutation_p.T519M|ANKLE1_uc002nfy.2_Missense_Mutation_p.T454M|ANKLE1_uc002nfz.2_Missense_Mutation_p.T197M	NM_152363	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat domain 41	491						nuclear envelope					0						GGCAAAGGGACGAGGGCCCGG	0.612													T	17396335	C	T	17396335	3	4	49	1	0	0	0	0	1	0	0	0	632	536	19	1	1498	1	ANKLE1	19	17396335	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	216460	17396335	41732648	1473	40354											
MAP1S	55201	broad.mit.edu	37	chr19	17831825	17831825	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtcccgacactctgccAccttctccagcattgtgaaa	7	14	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:17831825A>G	uc002nhe.1	+	2	208	c.199A>G	c.(199-201)ACC>GCC	p.T67A	MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Missense_Mutation_p.T67A|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Missense_Mutation_p.T41A	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	67	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						ACACTCTGCCACCTTCTCCAG	0.582													G	17831825	A	G	17831825	3	3	49	1	0	0	0	0	1	0	0	0	9234	159	6	3	205	3	MAP1S	19	17831825	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	435490	17831825	41297158	1474	40355											
B3GNT3	10331	broad.mit.edu	37	chr19	17922546	17922546	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatccaaaacgtgggccccaTccgggctttttggagcaagt	12	11	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:17922546T>C	uc002nhk.1	+	3	819	c.734T>C	c.(733-735)ATC>ACC	p.I245T	B3GNT3_uc002nhl.1_Missense_Mutation_p.I245T|B3GNT3_uc010ebd.1_Missense_Mutation_p.I245T|B3GNT3_uc010ebe.1_Missense_Mutation_p.I245T	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal	245	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			upper_aerodigestive_tract(1)	1						GTGGGCCCCATCCGGGCTTTT	0.572													C	17922546	T	C	17922546	3	2	49	1	0	0	0	0	1	0	0	0	1258	1435	50	3	740	3	B3GNT3	19	17922546	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	90721	17922546	41206437	1475	40356											
UPF1	5976	broad.mit.edu	37	chr19	18967788	18967788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgaaagcacccaggccaccGagccggagtgcatggttccc	12	15	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:18967788G>A	uc002nkg.2	+	14	2235	c.1960G>A	c.(1960-1962)GAG>AAG	p.E654K	UPF1_uc002nkf.2_Missense_Mutation_p.E643K|UPF1_uc002nkh.2_5'Flank	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	654					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CCAGGCCACCGAGCCGGAGTG	0.607													A	18967788	G	A	18967788	3	1	49	1	0	0	0	0	1	0	0	0	17000	1059	37	1	1981	1	UPF1	19	18967788	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1045242	18967788	40161195	1476	40357											
DDX49	54555	broad.mit.edu	37	chr19	19035782	19035782	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accgagtcggccggacggccCgtgcaggtgagcagtggagg	19	11	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:19035782C>A	uc002nkq.1	+	9	1078	c.1021C>A	c.(1021-1023)CGT>AGT	p.R341S	HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkr.1_RNA|DDX49_uc002nks.1_Missense_Mutation_p.R234S|DDX49_uc002nkt.1_3'UTR	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	341	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			Epithelial(12;0.0289)			CCGGACGGCCCGTGCAGGTGA	0.657													A	19035782	C	A	19035782	3	1	49	1	0	0	0	0	1	0	0	0	4366	652	23	5	1055	5	DDX49	19	19035782	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	67994	19035782	40093201	1477	40358											
NCAN	1463	broad.mit.edu	37	chr19	19360629	19360629	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccaacaccaccaccAgcatcaccaccacaaatccc	1	23	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:19360629A>G	uc002nlz.2	+	15	3974	c.3875A>G	c.(3874-3876)CAG>CGG	p.Q1292R	NCAN_uc002nma.2_Missense_Mutation_p.S48G	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	1292					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			caccaccaccagcatcaccac	0.433													G	19360629	A	G	19360629	3	3	49	1	0	0	0	0	1	0	0	0	10204	188	7	3	3929	3	NCAN	19	19360629	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	324847	19360629	39768354	1478	40359											
ZNF43	7594	broad.mit.edu	37	chr19	22000730	22000730	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatgtctcctcataggctcCcaaggctctttttcttgctc	6	14	5	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:22000730C>A	uc002nqj.2	-	3	319	c.189G>T	c.(187-189)TGG>TGT	p.W63C	ZNF43_uc010ecv.2_Missense_Mutation_p.W57C|ZNF43_uc002nql.2_Missense_Mutation_p.W57C|ZNF43_uc002nqm.2_Missense_Mutation_p.W57C|ZNF43_uc002nqk.2_5'UTR	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	63	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCATAGGCTCCCAAGGCTCTT	0.423													A	22000730	C	A	22000730	3	1	49	1	0	0	0	0	1	0	0	0	17900	624	22	5	2248	5	ZNF43	19	22000730	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2640101	22000730	37128253	1479	40360											
ZNF208	7757	broad.mit.edu	37	chr19	22193695	22193695	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactctaggagcagaggacaCacagcagtaaggacgagacc	13	10	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:22193695C>T	uc002nqp.2	-	1	51	c.-98G>A	c.(-100--96)GTGTG>GTATG		ZNF208_uc002nqo.1_Translation_Start_Site|ZNF208_uc002nqq.2_RNA	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCAGAGGACACACAGCAGTAA	0.592													T	22193695	C	T	22193695	1	4	49	1	0	0	0	0	0	0	0	0	17763	493	17	4		4	ZNF208	19	22193695	Translation_Start_Site	SNP	C	TCGA-BR-7707-01A-11D-2053-08	192965	22193695	36935288	1480	40361											
SLC7A9	11136	broad.mit.edu	37	chr19	33353425	33353425	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacgatcaccagcttggcCgcggtgaagatgttctggac	13	12	2	2	rs75036167		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:33353425C>T	uc002ntv.3	-	5	663	c.546G>A	c.(544-546)GCG>GCA	p.A182A	SLC7A9_uc002ntt.3_Intron|SLC7A9_uc002ntu.3_Silent_p.A182A|SLC7A9_uc002ntw.3_Intron	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	182	Helical; (Potential).		A -> T (in CSNU; type III; frequent mutation; mild loss of amino acid transport activity).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CCAGCTTGGCCGCGGTGAAGA	0.597													T	33353425	C	T	33353425	2	4	49	1	0	0	0	0	0	0	0	1	14705	639	23	1		1	SLC7A9	19	33353425	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	11159730	33353425	25775558	1481	40362											
CHST8	64377	broad.mit.edu	37	chr19	34263385	34263385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaccgtccactatggcaGcgctctcaagcgcctggaca	9	16	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:34263385G>A	uc002nus.3	+	5	1197	c.692G>A	c.(691-693)AGC>AAC	p.S231N	CHST8_uc002nut.3_Missense_Mutation_p.S231N|CHST8_uc002nuu.2_Missense_Mutation_p.S231N	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	231	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					CACTATGGCAGCGCTCTCAAG	0.632													A	34263385	G	A	34263385	3	1	49	1	0	0	0	0	1	0	0	0	3410	971	34	2	702	2	CHST8	19	34263385	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	909960	34263385	24865598	1482	40363											
HPN	3249	broad.mit.edu	37	chr19	35550829	35550829	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggcgggcgccaatggcacGtcgggcttcttctgtgtgga	16	11	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:35550829G>A	uc002nxq.1	+	7	587	c.342G>A	c.(340-342)ACG>ACA	p.T114T	HPN_uc002nxr.1_Silent_p.T114T|HPN_uc002nxs.1_Intron|HPN_uc010xsh.1_Silent_p.T83T|HPN_uc002nxt.1_5'UTR|LOC100128675_uc010xsi.1_Intron	NM_002151	NP_002142	P05981	HEPS_HUMAN	hepsin	114	SRCR.|Extracellular (Potential).				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CCAATGGCACGTCGGGCTTCT	0.706													A	35550829	G	A	35550829	2	1	49	1	0	0	0	0	0	0	0	1	7336	1132	40	1		1	HPN	19	35550829	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1287444	35550829	23578154	1483	40364											
USF2	7392	broad.mit.edu	37	chr19	35769944	35769944	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttcaaagaggccgagcgGctgcagatggacaacgagct	13	11	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:35769944G>A	uc002nyq.1	+	9	1027	c.918G>A	c.(916-918)CGG>CGA	p.R306R	USF2_uc010xss.1_Silent_p.R306R|USF2_uc002nyr.1_Silent_p.R239R|USF2_uc002nys.1_Silent_p.R108R|USF2_uc002nyt.1_Silent_p.R175R|USF2_uc002nyu.1_Silent_p.R108R|USF2_uc002nyv.1_Silent_p.R100R	NM_003367	NP_003358	Q15853	USF2_HUMAN	upstream stimulatory factor 2 isoform 1	306					lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity				0	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGGCCGAGCGGCTGCAGATGG	0.652													A	35769944	G	A	35769944	2	1	49	1	0	0	0	0	0	0	0	1	17030	1190	42	2		2	USF2	19	35769944	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	219115	35769944	23359039	1484	40365											
MAG	4099	broad.mit.edu	37	chr19	35800865	35800865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagtccaacccggagccGtccgtggcctttgagctgcc	13	14	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:35800865G>A	uc002nyy.1	+	8	1469	c.1320G>A	c.(1318-1320)CCG>CCA	p.P440P	MAG_uc002nyx.1_Silent_p.P440P|MAG_uc010eds.1_Silent_p.P415P|MAG_uc002nyz.1_Silent_p.P440P	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	440	Ig-like C2-type 4.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACCCGGAGCCGTCCGTGGCCT	0.667													A	35800865	G	A	35800865	2	1	49	1	0	0	0	0	0	0	0	1	9162	1132	40	1		1	MAG	19	35800865	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	30921	35800865	23328118	1485	40366											
U2AF1L4	199746	broad.mit.edu	37	chr19	36235042	36235042	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctctccatcctcctccctcCggaactgcaggaaatgtcag	8	16	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:36235042C>A	uc002obg.2	-	5	368	c.59G>T	c.(58-60)CGG>CTG	p.R20L	TMEM149_uc002obb.2_5'Flank|TMEM149_uc002obc.2_5'Flank|TMEM149_uc002obd.3_5'Flank|TMEM149_uc010xsy.1_5'Flank|TMEM149_uc010eej.2_5'UTR|U2AF1L4_uc002obh.1_5'UTR|U2AF1L4_uc002obe.2_Missense_Mutation_p.R79L|U2AF1L4_uc002obf.2_Missense_Mutation_p.R79L|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank			Q8WU68	U2AF4_HUMAN	Homo sapiens cDNA FLJ35525 fis, clone SPLEN2001650.	118	RRM.				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCTCCCTCCGGAACTGCAG	0.577													A	36235042	C	A	36235042	3	1	49	1	0	0	0	0	1	0	0	0	16819	652	23	5	442	5	U2AF1L4	19	36235042	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	434177	36235042	22893941	1486	40367											
ARHGAP33	115703	broad.mit.edu	37	chr19	36278199	36278199	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagcgggctcagcaggTggccgagcaacagagccagc	17	12	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:36278199T>C	uc002obs.1	+	21	2334	c.2249T>C	c.(2248-2250)GTG>GCG	p.V750A	ARHGAP33_uc002obt.1_Missense_Mutation_p.V775A|ARHGAP33_uc010eel.2_Missense_Mutation_p.V499A|ARHGAP33_uc002obv.1_Missense_Mutation_p.V499A	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	803					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						GCTCAGCAGGTGGCCGAGCAA	0.716													C	36278199	T	C	36278199	3	2	49	1	0	0	0	0	1	0	0	0	882	1696	59	3	2814	3	ARHGAP33	19	36278199	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	43157	36278199	22850784	1487	40368											
WDR62	284403	broad.mit.edu	37	chr19	36593955	36593955	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagagcaggtactggctaCgcctccccagacaggaccca	10	17	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:36593955C>T	uc002odc.2	+	28	3517	c.3426C>T	c.(3424-3426)TAC>TAT	p.Y1142Y	WDR62_uc002odd.2_Silent_p.Y1147Y	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1142	WD 14.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTACTGGCTACGCCTCCCCAG	0.647													T	36593955	C	T	36593955	2	4	49	1	0	0	0	0	0	0	0	1	17310	547	19	1		1	WDR62	19	36593955	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	315756	36593955	22535028	1488	40369											
ZNF146	7705	broad.mit.edu	37	chr19	36727780	36727780	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatccaaccttactgagcaTgagaaaatccatattggaga	7	8	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:36727780T>C	uc002odq.3	+	4	1961	c.438T>C	c.(436-438)CAT>CAC	p.H146H	ZNF146_uc010eet.2_Silent_p.H146H|ZNF146_uc010eeu.2_Silent_p.H146H	NM_007145	NP_009076	Q15072	OZF_HUMAN	zinc finger protein 146	146	C2H2-type 5.				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding				0	Esophageal squamous(110;0.162)					TTACTGAGCATGAGAAAATCC	0.423													C	36727780	T	C	36727780	2	2	49	1	0	0	0	0	0	0	0	1	17730	1461	51	3		3	ZNF146	19	36727780	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	133825	36727780	22401203	1489	40370											
ZNF345	25850	broad.mit.edu	37	chr19	37367968	37367968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttgtatcagtccttgttcGacatcagcgaattcatactg	7	9	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:37367968G>A	uc002oex.2	+	3	614	c.236G>A	c.(235-237)CGA>CAA	p.R79Q	ZNF345_uc002oey.3_Missense_Mutation_p.R79Q|ZNF345_uc002oez.2_Intron	NM_003419	NP_003410	Q14585	ZN345_HUMAN	zinc finger protein 345	79	C2H2-type 1.				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTCCTTGTTCGACATCAGCGA	0.403													A	37367968	G	A	37367968	3	1	49	1	0	0	0	0	1	0	0	0	17856	1058	37	1	238	1	ZNF345	19	37367968	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	640188	37367968	21761015	1490	40371											
ZNF569	148266	broad.mit.edu	37	chr19	37903706	37903706	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atatgtatagtaagggatgaGctttgggagaaggcttttcc	13	4	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:37903706G>T	uc002ogi.2	-	6	2412	c.1854C>A	c.(1852-1854)AGC>AGA	p.S618R	ZNF569_uc002ogh.2_Missense_Mutation_p.S459R|ZNF569_uc002ogj.2_Missense_Mutation_p.S642R	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	618	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAAGGGATGAGCTTTGGGAGA	0.413													T	37903706	G	T	37903706	3	4	49	1	0	0	0	0	1	0	0	0	17997	962	34	5	210	5	ZNF569	19	37903706	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	535738	37903706	21225277	1491	40372											
PAPL	390928	broad.mit.edu	37	chr19	39589701	39589701	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctggctgtgtttggagacCtgggggctgacaacccgaag	16	9	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:39589701C>A	uc002oki.2	+	4	698	c.424C>A	c.(424-426)CTG>ATG	p.L142M	PAPL_uc010egl.2_Missense_Mutation_p.L142M	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	iron/zinc purple acid phosphatase-like protein	142						extracellular region	acid phosphatase activity|metal ion binding				0						GTTTGGAGACCTGGGGGCTGA	0.632													A	39589701	C	A	39589701	3	1	49	1	0	0	0	0	1	0	0	0	11427	680	24	5	434	5	PAPL	19	39589701	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1685995	39589701	19539282	1492	40373											
ZNF780B	163131	broad.mit.edu	37	chr19	40541822	40541822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caatgagttggtaatgatatCgaaaggccatctcacattcc	8	9	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:40541822C>T	uc002omu.2	-	5	1009	c.944G>A	c.(943-945)CGA>CAA	p.R315Q	ZNF780B_uc002omv.2_Missense_Mutation_p.R167Q	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	315	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTAATGATATCGAAAGGCCAT	0.383													T	40541822	C	T	40541822	3	4	49	1	0	0	0	0	1	0	0	0	18150	884	31	1	1561	1	ZNF780B	19	40541822	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	952121	40541822	18587161	1493	40374											
ADCK4	79934	broad.mit.edu	37	chr19	41209479	41209479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgctcatcttgagtaccgCcagcaggttctggacatcgc	11	14	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:41209479C>T	uc002oor.2	-	9	1068	c.766G>A	c.(766-768)GCG>ACG	p.A256T	ADCK4_uc002oop.1_5'Flank|ADCK4_uc002ooq.1_Missense_Mutation_p.A215T	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4 isoform a	256	Protein kinase.					integral to membrane	protein serine/threonine kinase activity				0			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			TTGAGTACCGCCAGCAGGTTC	0.617													T	41209479	C	T	41209479	3	4	49	1	0	0	0	0	1	0	0	0	290	739	26	2	896	2	ADCK4	19	41209479	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	667657	41209479	17919504	1494	40375											
CYP2F1	1572	broad.mit.edu	37	chr19	41630643	41630643	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccgcgtgcaggaggagatCgacctcgtggtgggacgcgc	18	12	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:41630643C>T	uc002opu.1	+	8	1040	c.984C>T	c.(982-984)ATC>ATT	p.I328I	CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.S309L|CYP2F1_uc002opv.1_RNA	NM_000774	NP_000765	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F,	328					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0						AGGAGGAGATCGACCTCGTGG	0.672													T	41630643	C	T	41630643	2	4	49	1	0	0	0	0	0	0	0	1	4171	874	31	1		1	CYP2F1	19	41630643	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	421164	41630643	17498340	1495	40376											
CYP2S1	29785	broad.mit.edu	37	chr19	41700534	41700534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgggcaggaggctgtgcGggaggccctgggaggtcagg	23	7	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:41700534G>A	uc002opw.2	+	2	318	c.263G>A	c.(262-264)CGG>CAG	p.R88Q	CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_5'UTR	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S,	88					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			skin(1)	1						GAGGCTGTGCGGGAGGCCCTG	0.632													A	41700534	G	A	41700534	3	1	49	1	0	0	0	0	1	0	0	0	4174	1116	39	1	269	1	CYP2S1	19	41700534	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	69891	41700534	17428449	1496	40377											
AXL	558	broad.mit.edu	37	chr19	41743896	41743896	+	Frame_Shift_Del	DEL	C	C	-													atccaggcgggagaaccagaCcccccagaggagcccctcac							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:41743896delC	uc010ehj.2	+	7	1021	c.831delC	c.(829-831)GACfs	p.D277fs	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Frame_Shift_Del_p.D277fs|AXL_uc010ehk.2_Frame_Shift_Del_p.D277fs	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	277	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						GAGAACCAGACCCCCCAGAGG	0.622													-	41743896	C	-	41743896	7	5	49	1	0	1	0	1	0	0	0	0	1238	506	18	0	857	0	AXL	19	41743896	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	43362	41743896	17385087	1497	40378											
CD79A	973	broad.mit.edu	37	chr19	42383351	42383351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgcggcacctacctccGcgtgcgccgtgagtggccca	13	17	0	1	rs144367487	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:42383351G>A	uc002orv.2	+	2	556	c.371G>A	c.(370-372)CGC>CAC	p.R124H	CD79A_uc002oru.2_Intron	NM_001783	NP_001774	P11912	CD79A_HUMAN	CD79A antigen isoform 1 precursor	124	Extracellular (Potential).				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			ovary(2)|pancreas(1)	3						ACCTACCTCCGCGTGCGCCGT	0.597			O|S		DLBCL								A	42383351	G	A	42383351	3	1	49	1	0	0	0	0	1	0	0	0	3036	1087	38	1	377	1	CD79A	19	42383351	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	639455	42383351	16745632	1498	40379											
ATP1A3	478	broad.mit.edu	37	chr19	42489240	42489240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtgctcaatctcgatggCgatgggcgtcttgcccacct	12	12	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:42489240C>T	uc002osg.2	-	8	977	c.823G>A	c.(823-825)GCC>ACC	p.A275T	ATP1A3_uc010xwf.1_Missense_Mutation_p.A286T|ATP1A3_uc010xwg.1_Missense_Mutation_p.A245T|ATP1A3_uc010xwh.1_Missense_Mutation_p.A288T|ATP1A3_uc002osh.2_Missense_Mutation_p.A275T	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	275	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						ATCTCGATGGCGATGGGCGTC	0.632													T	42489240	C	T	42489240	3	4	49	1	0	0	0	0	1	0	0	0	1130	768	27	1	2282	1	ATP1A3	19	42489240	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	105889	42489240	16639743	1499	40380											
MEGF8	1954	broad.mit.edu	37	chr19	42880243	42880243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctacctgctgctgctgggCgtgggagacccaagtgggcc	15	12	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:42880243C>T	uc002otl.3	+	41	8288	c.7653C>T	c.(7651-7653)GGC>GGT	p.G2551G	MEGF8_uc002otm.3_Silent_p.G2159G|MEGF8_uc002otn.3_Silent_p.G212G	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2618	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				TGCTGCTGGGCGTGGGAGACC	0.647													T	42880243	C	T	42880243	2	4	49	1	0	0	0	0	0	0	0	1	9463	755	27	1		1	MEGF8	19	42880243	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	391003	42880243	16248740	1500	40381											
PSG1	5669	broad.mit.edu	37	chr19	43376071	43376071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtgagtcatagggaggCtctgaccattcatccaccac	10	12	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:43376071C>T	uc002ovb.2	-	3	695	c.557G>A	c.(556-558)AGC>AAC	p.S186N	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.S186N|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.S186N|PSG1_uc010eio.1_Missense_Mutation_p.S186N|PSG1_uc002oux.1_Missense_Mutation_p.S115N|PSG1_uc002ouy.1_Missense_Mutation_p.S186N|PSG1_uc002ouz.1_Missense_Mutation_p.S186N|PSG1_uc002ova.1_Intron|PSG1_uc002ovc.2_Intron|PSG1_uc002ovd.1_Missense_Mutation_p.S186N	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	186	Ig-like C2-type 1.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				CATAGGGAGGCTCTGACCATT	0.498													T	43376071	C	T	43376071	3	4	49	1	0	0	0	0	1	0	0	0	12653	797	28	2	771	2	PSG1	19	43376071	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	495828	43376071	15752912	1501	40382											
XRCC1	7515	broad.mit.edu	37	chr19	44057061	44057061	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctttgggagactcctggggCtgaggggatggggatggatt	19	6	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:44057061C>A	uc002owt.2	-	8	832	c.712_splice	c.e8-1	p.P238_splice	XRCC1_uc010xwp.1_Splice_Site_p.P207_splice	NM_006297	NP_006288	P18887	XRCC1_HUMAN	X-ray repair cross complementing protein 1						base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7		Prostate(69;0.0153)				ACTCCTGGGGCTGAGGGGATG	0.562								Other_BER_factors					A	44057061	C	A	44057061	5	1	49	1	0	0	0	0	0	0	1	0	17449	811	28	5	1230	5	XRCC1	19	44057061	Splice_Site	SNP	C	TCGA-BR-7707-01A-11D-2053-08	680990	44057061	15071922	1502	40383											
ZNF155	7711	broad.mit.edu	37	chr19	44500799	44500799	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaaccttacatttgtgagGcatgtgggaaggccttcatt	11	7	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:44500799G>T	uc002oxy.1	+	5	995	c.790G>T	c.(790-792)GCA>TCA	p.A264S	ZNF155_uc002oxz.1_Missense_Mutation_p.A264S|ZNF155_uc010xwt.1_Missense_Mutation_p.A275S	NM_003445	NP_003436	Q12901	ZN155_HUMAN	zinc finger protein 155	264	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Prostate(69;0.0352)				CATTTGTGAGGCATGTGGGAA	0.403													T	44500799	G	T	44500799	3	4	49	1	0	0	0	0	1	0	0	0	17733	1203	42	5	804	5	ZNF155	19	44500799	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	443738	44500799	14628184	1503	40384											
CEACAM19	56971	broad.mit.edu	37	chr19	45179597	45179597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaacgctgggatcctggCggccaccatcattggatctc	10	15	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:45179597C>T	uc002ozo.3	+	3	959	c.479C>T	c.(478-480)GCG>GTG	p.A160V	CEACAM19_uc002ozp.3_Missense_Mutation_p.A160V	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion	160	Helical; (Potential).					integral to membrane					0	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				GGGATCCTGGCGGCCACCATC	0.577													T	45179597	C	T	45179597	3	4	49	1	0	0	0	0	1	0	0	0	3190	768	27	1	489	1	CEACAM19	19	45179597	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	678798	45179597	13949386	1504	40385											
GIPR	2696	broad.mit.edu	37	chr19	46176148	46176148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccagtgtggcagtgatgGccaatggggactttggagag	17	8	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:46176148G>A	uc002pcu.1	+	5	419	c.320G>A	c.(319-321)GGC>GAC	p.G107D	GIPR_uc002pct.1_Missense_Mutation_p.G107D|GIPR_uc010xxp.1_Missense_Mutation_p.G71D|GIPR_uc010xxq.1_RNA|MIR642_hsa-mir-642|MI0003657_5'Flank	NM_000164	NP_000155	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	107	Extracellular (Potential).				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GGCAGTGATGGCCAATGGGGA	0.498													A	46176148	G	A	46176148	3	1	49	1	0	0	0	0	1	0	0	0	6395	1203	42	2	334	2	GIPR	19	46176148	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	996551	46176148	12952835	1505	40386											
DMPK	1760	broad.mit.edu	37	chr19	46280967	46280967	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggtctccgccgtggaatcCgcgtagaagggcgtctgccc	14	13	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:46280967C>T	uc002pdd.1	-	6	1414	c.870G>A	c.(868-870)GCG>GCA	p.A290A	DMPK_uc010xxs.1_Silent_p.A191A|DMPK_uc002pde.1_Silent_p.A290A|DMPK_uc002pdf.1_Silent_p.A280A|DMPK_uc002pdg.1_Silent_p.A280A|DMPK_uc002pdh.1_Silent_p.A280A|DMPK_uc002pdi.1_Silent_p.A306A|DMPK_uc010xxt.1_Silent_p.A280A	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	myotonic dystrophy protein kinase isoform 1	290	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)	3		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CCGTGGAATCCGCGTAGAAGG	0.642													T	46280967	C	T	46280967	2	4	49	1	0	0	0	0	0	0	0	1	4584	639	23	1		1	DMPK	19	46280967	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	104819	46280967	12848016	1506	40387											
CCDC8	83987	broad.mit.edu	37	chr19	46915642	46915642	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctcactctccaggtcGcttcccaggaacttgctgcc	7	17	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:46915642G>A	uc002pep.2	-	1	1278	c.426C>T	c.(424-426)AGC>AGT	p.S142S		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	142						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TCTCCAGGTCGCTTCCCAGGA	0.667													A	46915642	G	A	46915642	2	1	49	1	0	0	0	0	0	0	0	1	2853	1078	38	1		1	CCDC8	19	46915642	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	634675	46915642	12213341	1507	40388											
BCAT2	587	broad.mit.edu	37	chr19	49303347	49303347	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcactccagcaactccagcTtgtcgaaactctgggtggga	11	12	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:49303347T>G	uc002pkr.2	-	5	459	c.422A>C	c.(421-423)AAG>ACG	p.K141T	BCAT2_uc002pkp.2_Missense_Mutation_p.K101T|BCAT2_uc002pkq.3_Missense_Mutation_p.K101T|BCAT2_uc002pks.2_Missense_Mutation_p.K101T|BCAT2_uc002pkt.2_Missense_Mutation_p.K49T|BCAT2_uc010emh.1_Missense_Mutation_p.K141T|BCAT2_uc010emi.1_Missense_Mutation_p.K49T|BCAT2_uc002pku.1_Missense_Mutation_p.K101T|BCAT2_uc010emj.1_RNA	NM_001190	NP_001181	O15382	BCAT2_HUMAN	branched chain aminotransferase 2, mitochondrial	141						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			ovary(1)	1		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	CAACTCCAGCTTGTCGAAACT	0.662													G	49303347	T	G	49303347	3	3	49	1	0	0	0	0	1	0	0	0	1355	1609	56	5	784	5	BCAT2	19	49303347	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	2387705	49303347	9825636	1508	40389											
PPFIA3	8541	broad.mit.edu	37	chr19	49642973	49642973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacgaggggaggggccgGccatcccaggagacacccca	14	16	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:49642973G>A	uc002pmr.2	+	17	2457	c.2125G>A	c.(2125-2127)GCC>ACC	p.A709T	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.A577T	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	709						cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGAGGGGCCGGCCATCCCAGG	0.627													A	49642973	G	A	49642973	3	1	49	1	0	0	0	0	1	0	0	0	12311	1203	42	2	2187	2	PPFIA3	19	49642973	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	339626	49642973	9486010	1509	40390											
PRR12	57479	broad.mit.edu	37	chr19	50099565	50099565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcctcggacctcaggggCggacggcttggtgggcgagg	18	13	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:50099565C>T	uc002poo.3	+	4	1973	c.1973C>T	c.(1972-1974)GCG>GTG	p.A658V		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ACCTCAGGGGCGGACGGCTTG	0.701													T	50099565	C	T	50099565	3	4	49	1	0	0	0	0	1	0	0	0	12584	768	27	1	1987	1	PRR12	19	50099565	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	456592	50099565	9029418	1510	40391											
PRMT1	3276	broad.mit.edu	37	chr19	50189959	50189959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatcttcggcaccatcggCatgcggcccaacgccaagaa	11	14	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:50189959C>T	uc010enf.1	+	10	1050	c.1008C>T	c.(1006-1008)GGC>GGT	p.G336G	PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Silent_p.G312G|PRMT1_uc002ppe.2_Silent_p.G318G|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Silent_p.G283G|PRMT1_uc010ybb.1_5'Flank|C19orf76_uc002pph.2_5'Flank	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	HMT1 hnRNP methyltransferase-like 2 isoform 1	317						cytoplasm	protein methyltransferase activity			ovary(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		GCACCATCGGCATGCGGCCCA	0.448													T	50189959	C	T	50189959	2	4	49	1	0	0	0	0	0	0	0	1	12535	697	25	2		2	PRMT1	19	50189959	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	90394	50189959	8939024	1511	40392											
TSKS	60385	broad.mit.edu	37	chr19	50249873	50249873	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactccctggcgggccgggGcagccctgggacgtggcggc	20	14	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:50249873G>A	uc002ppm.2	-	6	857	c.846C>T	c.(844-846)TGC>TGT	p.C282C		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	282							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCGGGCCGGGGCAGCCCTGGG	0.567													A	50249873	G	A	50249873	2	1	49	1	0	0	0	0	0	0	0	1	16623	1195	42	2		2	TSKS	19	50249873	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	59914	50249873	8879110	1512	40393											
MYH14	79784	broad.mit.edu	37	chr19	50794294	50794294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaggcggtgaagcagcttCgcaagatgcaggtaagagcc	16	8	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:50794294C>T	uc002prr.1	+	34	5040	c.4993C>T	c.(4993-4995)CGC>TGC	p.R1665C	MYH14_uc010enu.1_Missense_Mutation_p.R1706C|MYH14_uc002prq.1_Missense_Mutation_p.R1673C|MYH14_uc010ycb.1_Missense_Mutation_p.R16C|MYH14_uc002prs.1_Missense_Mutation_p.R16C	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	1665	Potential.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GAAGCAGCTTCGCAAGATGCA	0.642													T	50794294	C	T	50794294	3	4	49	1	0	0	0	0	1	0	0	0	10033	884	31	1	5254	1	MYH14	19	50794294	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	544421	50794294	8334689	1513	40394											
POLD1	5424	broad.mit.edu	37	chr19	50905324	50905325	+	Frame_Shift_Ins	INS	-	-	G													catcagccgggacagtcgcgINSgggggagggagctgactggg					rs140707092		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:50905323_50905324C>CG	uc010eny.3	+	3	532_533	c.531_532C>CG	c.(529-534)cgcgggfs	p.R177fs	POLD1_uc002psb.4_Frame_Shift_Ins_p.R177fs|POLD1_uc002psc.4_Frame_Shift_Ins_p.R177fs|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	177			R -> H (in dbSNP:rs3218750).		DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding	p.R177R(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGGACAGTCGCGGGGGGAGGGA	0.673								DNA polymerases (catalytic subunits)					G	50905325	-	G	50905324	7	5	49	1	0	1	1	0	0	0	0	0	12190	1116	39	0	546	0	POLD1	19	50905324	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	111030	50905324	8223659	1514	40395											
POLD1	5424	broad.mit.edu	37	chr19	50910265	50910265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgaccagacccgccgccGcctggctgtgtactgcctga	12	16	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:50910265G>A	uc002psb.3	+	13	1576	c.1520G>A	c.(1519-1521)CGC>CAC	p.R507H	POLD1_uc002psc.3_Missense_Mutation_p.R507H|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.R507H	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	507					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACCCGCCGCCGCCTGGCTGTG	0.418								DNA_polymerases_(catalytic_subunits)					A	50910265	G	A	50910265	3	1	49	1	0	0	0	0	1	0	0	0	12190	1087	38	1	1566	1	POLD1	19	50910265	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4941	50910265	8218718	1515	40396											
LRRC4B	94030	broad.mit.edu	37	chr19	51021034	51021034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggccaggtggctgtcccCgcccacaccacccccactgg	11	20	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:51021034C>T	uc002pss.2	-	3	2073	c.1936G>A	c.(1936-1938)GGG>AGG	p.G646R		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	646	Cytoplasmic (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGGCTGTCCCCGCCCACACCA	0.721													T	51021034	C	T	51021034	3	4	49	1	0	0	0	0	1	0	0	0	9007	652	23	1	209	1	LRRC4B	19	51021034	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	110769	51021034	8107949	1516	40397											
GPR32	2854	broad.mit.edu	37	chr19	51273872	51273872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatcatgaatggggtctcGgaggggaccagaggctgcag	17	7	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:51273872G>A	uc010ycf.1	+	1	15	c.15G>A	c.(13-15)TCG>TCA	p.S5S		NM_001506	NP_001497	O75388	GPR32_HUMAN	G protein-coupled receptor 32	5	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ATGGGGTCTCGGAGGGGACCA	0.383													A	51273872	G	A	51273872	2	1	49	1	0	0	0	0	0	0	0	1	6688	1103	39	1		1	GPR32	19	51273872	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	252838	51273872	7855111	1517	40398											
KLK15	55554	broad.mit.edu	37	chr19	51330229	51330229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccgggtgggggcaacgcGtgggtagcaccgcggggcgc	20	14	0	0	rs139927076		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:51330229G>A	uc002ptl.2	-	3	417	c.386C>T	c.(385-387)ACG>ATG	p.T129M	KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Missense_Mutation_p.T129M|KLK15_uc002pto.2_Missense_Mutation_p.T128M|KLK15_uc010ych.1_Intron|KLK15_uc010yci.1_Missense_Mutation_p.T128M|KLK15_uc010eod.2_RNA	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	129	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GGGGCAACGCGTGGGTAGCAC	0.716													A	51330229	G	A	51330229	3	1	49	1	0	0	0	0	1	0	0	0	8403	1145	40	1	396	1	KLK15	19	51330229	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	56357	51330229	7798754	1518	40399											
SIGLEC5	8778	broad.mit.edu	37	chr19	52130718	52130718	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaatacgccccctgaccttGcagcagcaggacagagccgc	11	16	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:52130718G>T	uc002pxe.2	-	6	1418	c.1279C>A	c.(1279-1281)CAA>AAA	p.Q427K		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	427	Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CCCTGACCTTGCAGCAGCAGG	0.642													T	52130718	G	T	52130718	3	4	49	1	0	0	0	0	1	0	0	0	14311	1328	46	5	392	5	SIGLEC5	19	52130718	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	800489	52130718	6998265	1519	40400											
ZNF350	59348	broad.mit.edu	37	chr19	52469195	52469195	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaattgcagtatgaagtcGttcatggttagcatgaagaa	10	4	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:52469195G>A	uc002pyd.2	-	5	739	c.511C>T	c.(511-513)CGA>TGA	p.R171*	uc002pyb.2_Intron|uc002pyc.2_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	171					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(1)	1		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		GTATGAAGTCGTTCATGGTTA	0.373													A	52469195	G	A	52469195	4	1	49	1	0	0	0	0	0	1	0	0	17860	1153	40	1	1091	1	ZNF350	19	52469195	Nonsense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	338477	52469195	6659788	1520	40401											
ZNF616	90317	broad.mit.edu	37	chr19	52618898	52618898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccgatgcactgcaagacGtgaatgttgactgaagacct	10	10	1	5	rs149072042	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:52618898G>A	uc002pym.2	-	4	1802	c.1519C>T	c.(1519-1521)CGT>TGT	p.R507C	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	507	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ACTGCAAGACGTGAATGTTGA	0.433													A	52618898	G	A	52618898	3	1	49	1	0	0	0	0	1	0	0	0	18038	1145	40	1	830	1	ZNF616	19	52618898	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	149703	52618898	6510085	1521	40402											
ZNF83	55769	broad.mit.edu	37	chr19	53116634	53116634	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaggtttctctccagtaTggattctgtgatgttgtaca	10	6	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:53116634T>C	uc002pzu.3	-	2	2428	c.1184A>G	c.(1183-1185)CAT>CGT	p.H395R	ZNF83_uc002pzv.3_Missense_Mutation_p.H395R|ZNF83_uc010eps.2_Missense_Mutation_p.H367R|ZNF83_uc010ept.2_Missense_Mutation_p.H395R|ZNF83_uc010epu.2_Missense_Mutation_p.H395R|ZNF83_uc010epv.2_Missense_Mutation_p.H395R|ZNF83_uc010epw.2_Missense_Mutation_p.H395R|ZNF83_uc010epx.2_Missense_Mutation_p.H367R|ZNF83_uc010epy.2_Missense_Mutation_p.H395R|ZNF83_uc010epz.2_Missense_Mutation_p.H367R	NM_018300	NP_060770	P51522	ZNF83_HUMAN	zinc finger protein 83 isoform a	395	C2H2-type 11.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTCTCCAGTATGGATTCTGTG	0.363													C	53116634	T	C	53116634	3	2	49	1	0	0	0	0	1	0	0	0	18180	1464	51	3	370	3	ZNF83	19	53116634	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	497736	53116634	6012349	1522	40403											
ZNF320	162967	broad.mit.edu	37	chr19	53367219	53367219	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaatcacaaaagagaatAcaaaaccaggaaaagccaag	7	8	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:53367219A>G	uc010eqh.1	-	3		c.458T>C			ZNF320_uc010eqi.1_RNA			A2RRD8	ZN320_HUMAN	Homo sapiens full length insert cDNA clone ZD42C02.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		AAAAGAGAATACAAAACCAGG	0.313													G	53367219	A	G	53367219	1	3	49	0	1	0	0	0	0	0	0	0	17836	406	14	3		3	ZNF320	19	53367219	RNA	SNP	A	TCGA-BR-7707-01A-11D-2053-08	250585	53367219	5761764	1523	40404											
ZNF415	55786	broad.mit.edu	37	chr19	53612025	53612025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgatgactcgcaaggtgtgAattgtaactgaaaaccttac	9	9	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:53612025A>G	uc002qax.2	-	7	1766	c.1417T>C	c.(1417-1419)TCA>CCA	p.S473P	ZNF415_uc002qat.2_Missense_Mutation_p.S437P|ZNF415_uc002qaw.2_Missense_Mutation_p.S425P|ZNF415_uc010yds.1_Missense_Mutation_p.S425P|ZNF415_uc010ydt.1_Missense_Mutation_p.S425P|ZNF415_uc002qau.2_Missense_Mutation_p.S412P|ZNF415_uc002qav.2_Missense_Mutation_p.S437P|ZNF415_uc002qba.2_Missense_Mutation_p.S195P|ZNF415_uc002qay.2_Missense_Mutation_p.S412P|ZNF415_uc002qaz.2_Missense_Mutation_p.S473P	NR_028343		Q09FC8	ZN415_HUMAN	RecName: Full=Zinc finger protein 415;	473	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.0191)		GCAAGGTGTGAATTGTAACTG	0.418													G	53612025	A	G	53612025	3	3	49	1	0	0	0	0	1	0	0	0	17889	246	9	3	398	3	ZNF415	19	53612025	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	244806	53612025	5516958	1524	40405											
LILRA5	353514	broad.mit.edu	37	chr19	54822903	54822903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacctgtcgaatctcagccGtgagccacactggagggtca	12	12	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:54822903G>A	uc002qfe.2	-	5	613	c.493C>T	c.(493-495)CGG>TGG	p.R165W	LILRA5_uc002qff.2_Missense_Mutation_p.R153W|LILRA5_uc010yev.1_Missense_Mutation_p.R165W|LILRA5_uc010yew.1_Missense_Mutation_p.R153W|LILRA5_uc002qfh.1_Missense_Mutation_p.R153W|LILRA5_uc002qfg.1_Missense_Mutation_p.R165W	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor subfamily	165	Extracellular (Potential).|Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity			upper_aerodigestive_tract(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AATCTCAGCCGTGAGCCACAC	0.582													A	54822903	G	A	54822903	3	1	49	1	0	0	0	0	1	0	0	0	8788	1144	40	1	504	1	LILRA5	19	54822903	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1210878	54822903	4306080	1525	40406											
LILRA4	23547	broad.mit.edu	37	chr19	54848764	54848764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactggcccccgtaggagcGgctcacagggctcagggtga	16	12	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:54848764G>A	uc002qfj.2	-	5	916	c.859C>T	c.(859-861)CGC>TGC	p.R287C	LILRA4_uc002qfi.2_Missense_Mutation_p.R221C	NM_012276	NP_036408	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor subfamily	287	Extracellular (Potential).|Ig-like C2-type 3.					integral to membrane	receptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCGTAGGAGCGGCTCACAGGG	0.682													A	54848764	G	A	54848764	3	1	49	1	0	0	0	0	1	0	0	0	8787	1116	39	1	656	1	LILRA4	19	54848764	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	25861	54848764	4280219	1526	40407											
FCAR	2204	broad.mit.edu	37	chr19	55401033	55401033	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agactccatccaccaagattAcacgacgcagaacttgatcc	6	14	0	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:55401033A>G	uc002qhr.1	+	5	865	c.668A>G	c.(667-669)TAC>TGC	p.Y223C	FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.Y174C|FCAR_uc010esi.1_Missense_Mutation_p.Y100C|FCAR_uc002qhu.1_Missense_Mutation_p.Y127C|FCAR_uc002qhv.1_Missense_Mutation_p.Y201C|FCAR_uc002qhw.1_Missense_Mutation_p.Y211C|FCAR_uc002qhx.1_Missense_Mutation_p.Y115C|FCAR_uc002qhy.1_Missense_Mutation_p.Y189C|FCAR_uc002qhz.1_Silent_p.L186L|FCAR_uc002qia.1_Missense_Mutation_p.Y114C	NM_002000	NP_001991	P24071	FCAR_HUMAN	Fc alpha receptor isoform a precursor	223	Extracellular (Potential).				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(193;0.0443)		CACCAAGATTACACGACGCAG	0.537													G	55401033	A	G	55401033	3	3	49	1	0	0	0	0	1	0	0	0	5773	391	14	3	757	3	FCAR	19	55401033	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	552269	55401033	3727950	1527	40408											
RPL28	6158	broad.mit.edu	37	chr19	55899400	55899400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccgcaagaacaagtaccGccccgacctgcgcatggtga	11	14	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:55899400G>A	uc002qkv.2	+	4	350	c.308G>A	c.(307-309)CGC>CAC	p.R103H	RPL28_uc010yga.1_Missense_Mutation_p.R103H|RPL28_uc010ygb.1_Missense_Mutation_p.R103H|RPL28_uc002qkw.1_3'UTR	NM_000991	NP_000982	P46779	RL28_HUMAN	ribosomal protein L28 isoform 2	103					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		AACAAGTACCGCCCCGACCTG	0.607													A	55899400	G	A	55899400	3	1	49	1	0	0	0	0	1	0	0	0	13577	1087	38	1	386	1	RPL28	19	55899400	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	498367	55899400	3229583	1528	40409											
ZNF628	89887	broad.mit.edu	37	chr19	55993235	55993235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgcaccagcgcacGcacggcgccgcccccgcccc	11	23	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:55993235G>A	uc002qld.2	+	3	1228	c.663G>A	c.(661-663)ACG>ACA	p.T221T		NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	221	C2H2-type 7.					nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		ACCAGCGCACGCAcggcgccg	0.542													A	55993235	G	A	55993235	2	1	49	1	0	0	0	0	0	0	0	1	18049	1074	38	1		1	ZNF628	19	55993235	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	93835	55993235	3135748	1529	40410											
U2AF2	11338	broad.mit.edu	37	chr19	56166473	56166473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacgcggccgcctcagcatGtcggacttcgacgagttcga	12	14	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:56166473G>A	uc002qlu.2	+	1	1058	c.3G>A	c.(1-3)ATG>ATA	p.M1I	U2AF2_uc002qlt.2_Missense_Mutation_p.M1I	NM_007279	NP_009210	P26368	U2AF2_HUMAN	U2 (RNU2) small nuclear RNA auxiliary factor 2	1					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GCCTCAGCATGTCGGACTTCG	0.682													A	56166473	G	A	56166473	3	1	49	1	0	0	0	0	1	0	0	0	16820	1377	48	4	5	4	U2AF2	19	56166473	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	173238	56166473	2962510	1530	40411											
ZNF787	126208	broad.mit.edu	37	chr19	56599515	56599515	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcagaccgagggcgcGcccaccgcgtggatcttctt	13	15	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:56599515G>A	uc010eth.1	-	3	1145	c.1026C>T	c.(1024-1026)GGC>GGT	p.G342G		NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CCGAGGGCGCGCCCACCGCGT	0.756													A	56599515	G	A	56599515	2	1	49	1	0	0	0	0	0	0	0	1	18156	1074	38	1		1	ZNF787	19	56599515	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	433042	56599515	2529468	1531	40412											
ZNF71	58491	broad.mit.edu	37	chr19	57133439	57133439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacctcatcgtgcaccagCgcacgcacaccggggagaag	12	15	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:57133439C>T	uc002qnm.3	+	3	1022	c.784C>T	c.(784-786)CGC>TGC	p.R262C		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	262	C2H2-type 5.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CGTGCACCAGCGCACGCACAC	0.672													T	57133439	C	T	57133439	3	4	49	1	0	0	0	0	1	0	0	0	18111	768	27	1	786	1	ZNF71	19	57133439	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	533924	57133439	1995544	1532	40413											
ZIM2	23619	broad.mit.edu	37	chr19	57286450	57286450	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttacacgttcacagagattcGcacactggacggaaggcttt	10	10	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:57286450G>T	uc002qnr.2	-	11	1572	c.1190C>A	c.(1189-1191)GCG>GAG	p.A397E	uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.A193E|ZIM2_uc010ygr.1_Missense_Mutation_p.A193E|ZIM2_uc002qnq.2_Missense_Mutation_p.A397E|ZIM2_uc010etp.2_Missense_Mutation_p.A397E|ZIM2_uc010ygs.1_Missense_Mutation_p.A397E	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		ACAGAGATTCGCACACTGGAC	0.458													T	57286450	G	T	57286450	3	4	49	1	0	0	0	0	1	0	0	0	17681	1087	38	5	397	5	ZIM2	19	57286450	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	153011	57286450	1842533	1533	40414											
PEG3	5178	broad.mit.edu	37	chr19	57325987	57325987	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtctctcttcggtctgacTtctctgaaactcagtgaggg	11	10	5	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:57325987T>G	uc002qnu.2	-	7	4174	c.3823A>C	c.(3823-3825)AGT>CGT	p.S1275R	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S1246R|PEG3_uc002qnv.2_Missense_Mutation_p.S1275R|PEG3_uc002qnw.2_Missense_Mutation_p.S1151R|PEG3_uc002qnx.2_Missense_Mutation_p.S1149R|PEG3_uc010etr.2_Missense_Mutation_p.S1275R	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1275					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCGGTCTGACTTCTCTGAAAC	0.463													G	57325987	T	G	57325987	3	3	49	1	0	0	0	0	1	0	0	0	11720	1609	56	5	947	5	PEG3	19	57325987	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	39537	57325987	1802996	1534	40415											
ZNF543	125919	broad.mit.edu	37	chr19	57840273	57840273	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagaaaccctatgagtgCgtggagtgtggaaaggcctt	16	6	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:57840273C>T	uc002qoi.1	+	4	1788	c.1443C>T	c.(1441-1443)TGC>TGT	p.C481C		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	481	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCTATGAGTGCGTGGAGTGTG	0.493													T	57840273	C	T	57840273	2	4	49	1	0	0	0	0	0	0	0	1	17973	776	27	1		1	ZNF543	19	57840273	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	514286	57840273	1288710	1535	40416											
ZBTB45	84878	broad.mit.edu	37	chr19	59028928	59028928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcgaagcttcacgaatgCgcacagtcacgtcacagaag	11	12	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:59028928C>T	uc002qtd.2	-	2	405	c.113G>A	c.(112-114)CGC>CAC	p.R38H	ZBTB45_uc002qte.2_Missense_Mutation_p.R38H|ZBTB45_uc002qtf.2_Missense_Mutation_p.R38H	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	38	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TTCACGAATGCGCACAGTCAC	0.602											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	59028928	C	T	59028928	3	4	49	1	0	0	0	0	1	0	0	0	17543	768	27	1	1430	1	ZBTB45	19	59028928	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1188655	59028928	100055	1536	40417											
SNPH	9751	broad.mit.edu	37	chr20	1286385	1286386	+	Frame_Shift_Ins	INS	-	-	C													ccacagcggcctggtgccaaINSccccaaccctggccagtcgg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:1286385_1286386insC	uc002wes.2	+	6	1408_1409	c.1172_1173insC	c.(1171-1173)AACfs	p.N391fs	SNPH_uc002wet.2_Frame_Shift_Ins_p.N435fs	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	391					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						CCTGGTGCCAACCCCAACCCTG	0.658													C	1286386	-	C	1286385	7	5	49	1	0	1	1	0	0	0	0	0	14850	43	2	0	1186	0	SNPH	20	1286385	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08		1286385	61739135	1537	40418											
SIRPA	140885	broad.mit.edu	37	chr20	1896067	1896067	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccccgatgacgtggagttTaagtctggagcaggcactga	14	9	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:1896067T>C	uc002wfq.2	+	3	762	c.402T>C	c.(400-402)TTT>TTC	p.F134F	SIRPA_uc010zps.1_Silent_p.F114F|SIRPA_uc002wfr.2_Silent_p.F134F|SIRPA_uc002wfs.2_Silent_p.F134F|SIRPA_uc002wft.2_Silent_p.F134F	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN	signal-regulatory protein alpha precursor	134	Ig-like V-type.|Extracellular (Potential).		F -> L.		blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			ovary(1)	1				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ACGTGGAGTTTAAGTCTGGAG	0.537													C	1896067	T	C	1896067	2	2	49	1	0	0	0	0	0	0	0	1	14332	1751	61	3		3	SIRPA	20	1896067	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	609682	1896067	61129453	1538	40419											
TGM3	7053	broad.mit.edu	37	chr20	2321186	2321186	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttctcctgcaacaagttcCctgcaatcaaggccatgttg	7	13	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:2321186C>A	uc002wfx.3	+	13	2138	c.2041C>A	c.(2041-2043)CCT>ACT	p.P681T		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	681					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	CAACAAGTTCCCTGCAATCAA	0.592													A	2321186	C	A	2321186	3	1	49	1	0	0	0	0	1	0	0	0	15828	623	22	5	2091	5	TGM3	20	2321186	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	425119	2321186	60704334	1539	40420											
TGM6	343641	broad.mit.edu	37	chr20	2378638	2378638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaaaacaacccagccacCgacgtgtcctgccgccacaa	6	19	0	0	rs111415879		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:2378638C>T	uc002wfy.1	+	5	679	c.618C>T	c.(616-618)ACC>ACT	p.T206T	TGM6_uc010gal.1_Silent_p.T206T	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	206					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	ACCCAGCCACCGACGTGTCCT	0.582													T	2378638	C	T	2378638	2	4	49	1	0	0	0	0	0	0	0	1	15831	639	23	1		1	TGM6	20	2378638	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	57452	2378638	60646882	1540	40421											
GNRH2	2797	broad.mit.edu	37	chr20	3025167	3025167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggtaccctggaggaaagcGagccctcagctcagcccagg	13	14	2	0	rs61729221		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:3025167G>A	uc002whr.1	+	2	158	c.107G>A	c.(106-108)CGA>CAA	p.R36Q	GNRH2_uc002whp.1_Missense_Mutation_p.R36Q|GNRH2_uc002whq.1_Missense_Mutation_p.R36Q|GNRH2_uc010gau.1_Missense_Mutation_p.R36Q|MRPS26_uc002whs.2_5'Flank	NM_001501	NP_001492	O43555	GON2_HUMAN	gonadotropin-releasing hormone 2 isoform a	36					multicellular organismal development|signal transduction	extracellular region|soluble fraction	hormone activity				0						GGAGGAAAGCGAGCCCTCAGC	0.657													A	3025167	G	A	3025167	3	1	49	1	0	0	0	0	1	0	0	0	6548	1058	37	1	109	1	GNRH2	20	3025167	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	646529	3025167	60000353	1541	40422											
FASTKD5	60493	broad.mit.edu	37	chr20	3128087	3128087	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctaaataccacagcaAttcagacccctcttgctgaa	5	14	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:3128087A>G	uc002whz.2	-	2	1941	c.1630T>C	c.(1630-1632)TTG>CTG	p.L544L	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	544					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0						TACCACAGCAATTCAGACCCC	0.453													G	3128087	A	G	3128087	2	3	49	1	0	0	0	0	0	0	0	1	5688	98	4	3		3	FASTKD5	20	3128087	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	102920	3128087	59897433	1542	40423											
ADAM33	80332	broad.mit.edu	37	chr20	3653476	3653476	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattggagaggcaagcgccGccccccttgcggaagaaggc	15	13	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:3653476G>A	uc002wit.2	-	12	1290	c.1203C>T	c.(1201-1203)GGC>GGT	p.G401G	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Silent_p.G401G|ADAM33_uc002wis.2_5'UTR|ADAM33_uc002wiu.2_Silent_p.G401G|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_3'UTR|ADAM33_uc010zqh.1_3'UTR	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	401	Extracellular (Potential).|Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4						GGCAAGCGCCGCCCCCCTTGC	0.731													A	3653476	G	A	3653476	2	1	49	1	0	0	0	0	0	0	0	1	250	1074	38	1		1	ADAM33	20	3653476	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	525389	3653476	59372044	1543	40424											
SIGLEC1	6614	broad.mit.edu	37	chr20	3669223	3669223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcagcccaggggtgggGcacaggttgaggtctcacat	16	10	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:3669223G>A	uc002wja.2	-	21	5114	c.5114C>T	c.(5113-5115)GCC>GTC	p.A1705V	SIGLEC1_uc002wjb.1_3'UTR|SIGLEC1_uc002wiz.3_Missense_Mutation_p.P1681S	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1705	Cytoplasmic (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						CAGGGGTGGGGCACAGGTTGA	0.587													A	3669223	G	A	3669223	3	1	49	1	0	0	0	0	1	0	0	0	14305	1203	42	2	19	2	SIGLEC1	20	3669223	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	15747	3669223	59356297	1544	40425											
CDC25B	994	broad.mit.edu	37	chr20	3782662	3782662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctcaagaggctggagcGgccccaggacagggacacgc	14	14	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:3782662G>A	uc002wjn.2	+	10	1791	c.1013G>A	c.(1012-1014)CGG>CAG	p.R338Q	CDC25B_uc010zqk.1_Missense_Mutation_p.R274Q|CDC25B_uc010zql.1_Missense_Mutation_p.R260Q|CDC25B_uc010zqm.1_Missense_Mutation_p.R247Q|CDC25B_uc002wjl.2_Missense_Mutation_p.R226Q|CDC25B_uc002wjm.2_Missense_Mutation_p.R226Q|CDC25B_uc002wjo.2_Missense_Mutation_p.R324Q|CDC25B_uc002wjp.2_Missense_Mutation_p.R297Q|CDC25B_uc002wjq.2_Missense_Mutation_p.R138Q|CDC25B_uc010gbc.2_5'Flank	NM_021873	NP_068659	P30305	MPIP2_HUMAN	cell division cycle 25B isoform 1	338					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			lung(3)|ovary(2)	5						AGGCTGGAGCGGCCCCAGGAC	0.657													A	3782662	G	A	3782662	3	1	49	1	0	0	0	0	1	0	0	0	3063	1116	39	1	1051	1	CDC25B	20	3782662	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	113439	3782662	59242858	1545	40426											
BMP2	650	broad.mit.edu	37	chr20	6759451	6759451	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaagagacaccctttgtaCgtggacttcagtgacgtggg	13	8	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:6759451C>T	uc002wmu.1	+	3	1691	c.906C>T	c.(904-906)TAC>TAT	p.Y302Y		NM_001200	NP_001191	P12643	BMP2_HUMAN	bone morphogenetic protein 2 preproprotein	302					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			ovary(1)|breast(1)	2					Simvastatin(DB00641)	ACCCTTTGTACGTGGACTTCA	0.512													T	6759451	C	T	6759451	2	4	49	1	0	0	0	0	0	0	0	1	1459	547	19	1		1	BMP2	20	6759451	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2976789	6759451	56266069	1546	40427											
HAO1	54363	broad.mit.edu	37	chr20	7886818	7886818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctctcaaaatgccctttGcaacaattggcaatgatgtc	6	11	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:7886818G>A	uc002wmw.1	-	4	728	c.704C>T	c.(703-705)GCA>GTA	p.A235V	HAO1_uc010gbu.2_Missense_Mutation_p.A235V	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase 1	235	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			ovary(3)	3						AATGCCCTTTGCAACAATTGG	0.383													A	7886818	G	A	7886818	3	1	49	1	0	0	0	0	1	0	0	0	6951	1319	46	2	428	2	HAO1	20	7886818	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1127367	7886818	55138702	1547	40428											
KIF16B	55614	broad.mit.edu	37	chr20	16360726	16360726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgatttctgtctccttgcGctgggtctccacctcctgct	8	16	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:16360726G>A	uc002wpg.1	-	19	2079	c.1921C>T	c.(1921-1923)CGC>TGC	p.R641C	KIF16B_uc002wpe.1_Missense_Mutation_p.R23C|KIF16B_uc002wpf.1_Missense_Mutation_p.R23C|KIF16B_uc010gch.1_Missense_Mutation_p.R641C|KIF16B_uc010gci.1_Missense_Mutation_p.R641C|KIF16B_uc010gcj.1_Missense_Mutation_p.R652C	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	641	Glu-rich.|Potential.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						GTCTCCTTGCGCTGGGTCTCC	0.507													A	16360726	G	A	16360726	3	1	49	1	0	0	0	0	1	0	0	0	8278	1087	38	1	2064	1	KIF16B	20	16360726	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	8473908	16360726	46664794	1548	40429											
ZNF133	7692	broad.mit.edu	37	chr20	18295989	18295989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaaaaggactctgggagCgttctccaggccaccccaga	11	13	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:18295989C>T	uc010gcq.2	+	5	799	c.494C>T	c.(493-495)GCG>GTG	p.A165V	ZNF133_uc010zrv.1_Missense_Mutation_p.A168V|ZNF133_uc010zrw.1_Missense_Mutation_p.A102V|ZNF133_uc010gcr.2_Missense_Mutation_p.A165V|ZNF133_uc010zrx.1_Missense_Mutation_p.A70V|ZNF133_uc002wql.3_Missense_Mutation_p.A164V|ZNF133_uc010gcs.2_Missense_Mutation_p.A164V|ZNF133_uc010zry.1_Missense_Mutation_p.A70V|ZNF133_uc002wqm.2_Missense_Mutation_p.A165V	NM_003434	NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	165						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)	2						ACTCTGGGAGCGTTCTCCAGG	0.587													T	18295989	C	T	18295989	3	4	49	1	0	0	0	0	1	0	0	0	17720	768	27	1	501	1	ZNF133	20	18295989	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1935263	18295989	44729531	1549	40430											
SLC24A3	57419	broad.mit.edu	37	chr20	19496186	19496186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggatagaagacaaggtgCggtggtcctccatgtgctct	14	9	1	2	rs144636987		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:19496186C>T	uc002wrl.2	+	3	523	c.326C>T	c.(325-327)GCG>GTG	p.A109V		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	109	Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						AGACAAGGTGCGGTGGTCCTC	0.542													T	19496186	C	T	19496186	3	4	49	1	0	0	0	0	1	0	0	0	14467	768	27	1	336	1	SLC24A3	20	19496186	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1200197	19496186	43529334	1550	40431											
DNMT3B	1789	broad.mit.edu	37	chr20	31384651	31384652	+	Frame_Shift_Ins	INS	-	-	G													ccttccaccctctctttgagINSggggggctctgtcagacatg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:31384650_31384651A>AG	uc002wyc.3	+	12	1673_1674	c.1352_1353A>AG	c.(1351-1353)gagfs	p.E451fs	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Frame_Shift_Ins_p.E431fs|DNMT3B_uc002wye.3_Frame_Shift_Ins_p.E431fs|DNMT3B_uc010ztz.2_Frame_Shift_Ins_p.E389fs|DNMT3B_uc010zua.2_Frame_Shift_Ins_p.E355fs|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Frame_Shift_Ins_p.E443fs|DNMT3B_uc002wyg.3_Frame_Shift_Ins_p.E150fs	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	451	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTCTTTGAGGGGGGGCTCT	0.559													G	31384652	-	G	31384651	7	5	49	1	0	1	1	0	0	0	0	0	4677	991	35	0	1439	0	DNMT3B	20	31384651	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	11888465	31384651	31640869	1551	40432											
DNMT3B	1789	broad.mit.edu	37	chr20	31387092	31387092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattcccgcagcccgaaggCggcccattcgagtcctgtca	10	17	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:31387092C>T	uc002wyc.2	+	16	2038	c.1717C>T	c.(1717-1719)CGG>TGG	p.R573W	DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Missense_Mutation_p.R553W|DNMT3B_uc002wye.2_Missense_Mutation_p.R553W|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.R511W|DNMT3B_uc010zua.1_Missense_Mutation_p.R477W|DNMT3B_uc002wyf.2_Missense_Mutation_p.R565W|DNMT3B_uc002wyg.2_Missense_Mutation_p.R272W|DNMT3B_uc010geg.2_5'Flank|DNMT3B_uc010geh.2_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	573					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5						AGCCCGAAGGCGGCCCATTCG	0.582													T	31387092	C	T	31387092	3	4	49	1	0	0	0	0	1	0	0	0	4677	759	27	1	1815	1	DNMT3B	20	31387092	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2441	31387092	31638428	1552	40433											
ZNF341	84905	broad.mit.edu	37	chr20	32341075	32341075	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaccgccaccacctcagcCtccaccacctccaccccaga	3	26	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:32341075C>A	uc002wzy.2	+	5	607	c.587C>A	c.(586-588)CCT>CAT	p.P196H	ZNF341_uc002wzx.2_Missense_Mutation_p.P196H|ZNF341_uc010geq.2_Missense_Mutation_p.P106H|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						ccacctcagcctccaccacct	0.438													A	32341075	C	A	32341075	3	1	49	1	0	0	0	0	1	0	0	0	17854	681	24	5	605	5	ZNF341	20	32341075	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	953983	32341075	30684445	1553	40434											
CEP250	11190	broad.mit.edu	37	chr20	34055233	34055233	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtctcgggaacccaacggatCtggaagaatggatgggcggg	17	8	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:34055233C>A	uc002xcm.2	+	10	1375	c.704C>A	c.(703-705)TCT>TAT	p.S235Y	CEP250_uc010zve.1_Translation_Start_Site|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_Missense_Mutation_p.S42Y	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	235					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCCAACGGATCTGGAAGAATG	0.562													A	34055233	C	A	34055233	3	1	49	1	0	0	0	0	1	0	0	0	3252	913	32	5	726	5	CEP250	20	34055233	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1714158	34055233	28970287	1554	40435											
RBM39	9584	broad.mit.edu	37	chr20	34312604	34312604	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cataagcaattcctttggaaCgtcttgaatttctgtcagaa	7	8	3	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:34312604C>A	uc002xeb.2	-	8	919	c.575G>T	c.(574-576)CGT>CTT	p.R192L	RBM39_uc002xdz.2_Missense_Mutation_p.R168L|RBM39_uc002xea.2_Missense_Mutation_p.R35L|RBM39_uc010gfn.2_Missense_Mutation_p.R35L|RBM39_uc010zvm.1_Missense_Mutation_p.R170L|RBM39_uc002xeg.2_Missense_Mutation_p.R170L|RBM39_uc002xec.2_Missense_Mutation_p.R192L|RBM39_uc002xed.2_5'UTR|RBM39_uc002xee.2_Missense_Mutation_p.R35L|RBM39_uc002xef.2_Missense_Mutation_p.R35L|RBM39_uc010zvn.1_Missense_Mutation_p.R35L	NM_184234	NP_909122	Q14498	RBM39_HUMAN	RNA binding motif protein 39 isoform a	192	RRM 1.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TCCTTTGGAACGTCTTGAATT	0.398													A	34312604	C	A	34312604	3	1	49	1	0	0	0	0	1	0	0	0	13133	536	19	5	1057	5	RBM39	20	34312604	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	257371	34312604	28712916	1555	40436											
TGIF2	60436	broad.mit.edu	37	chr20	35219613	35219616	+	Frame_Shift_Del	DEL	ACTC	ACTC	-													tgacccctggtagcacacttActctgctgaccagggctgag							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:35219612_35219615TACTC>T	uc021wcv.1	+	2	706_709	c.492_495TACTC>T	c.(490-495)cttactfs	p.L164fs	TGIF2_uc021wcu.1_Frame_Shift_Del_p.L164fs|TGIF2_uc002xfn.3_Frame_Shift_Del_p.L164fs|TGIF2_uc021wcw.1_Frame_Shift_Del_p.L164fs|TGIF2_uc002xfo.3_Intron	NM_001199514	NP_001186443	Q9GZN2	TGIF2_HUMAN	Homo sapiens TGFB-induced factor homeobox 2 (TGIF2), transcript variant 1, mRNA.	164	Repressive function.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GTAGCACACTTACTCTGCTGACCA	0.627													-	35219616	ACTC	-	35219613	7	5	49	1	0	1	0	1	0	0	0	0	15823	391	14	0	499	0	TGIF2	20	35219613	Frame_Shift_Del	DEL	ACTC	TCGA-BR-7707-01A-11D-2053-08	907009	35219613	27805907	1556	40437											
C20orf132	140699	broad.mit.edu	37	chr20	35749348	35749348	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggccatcttttcctcccaGgagagcccatcctttattct	6	14	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:35749348G>T	uc010zvu.1	-	18	2189	c.2098C>A	c.(2098-2100)CTG>ATG	p.L700M	C20orf132_uc002xgk.2_Missense_Mutation_p.L322M	NM_152503	NP_689716	Q9H579	CT132_HUMAN	hypothetical protein LOC140699 isoform 1	Error:Variant_position_missing_in_Q9H579_after_alignment											0		Myeloproliferative disorder(115;0.00878)				TTTCCTCCCAGGAGAGCCCAT	0.453													T	35749348	G	T	35749348	3	4	49	1	0	0	0	0	1	0	0	0	2086	991	35	5	1096	5	C20orf132	20	35749348	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	529735	35749348	27276172	1557	40438											
PLCG1	5335	broad.mit.edu	37	chr20	39791298	39791298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggacctggagcagcgcaGcggggacatcacctacgggc	16	13	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:39791298G>A	uc002xjp.1	+	6	735	c.614G>A	c.(613-615)AGC>AAC	p.S205N	PLCG1_uc002xjo.1_Missense_Mutation_p.S205N|PLCG1_uc010zwe.1_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	205					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				GAGCAGCGCAGCGGGGACATC	0.632													A	39791298	G	A	39791298	3	1	49	1	0	0	0	0	1	0	0	0	12035	971	34	2	636	2	PLCG1	20	39791298	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4041950	39791298	23234222	1558	40439											
EMILIN3	90187	broad.mit.edu	37	chr20	39990829	39990829	+	Frame_Shift_Del	DEL	C	C	-													ccaaagccgcccactccccaCccccccatgtccaacctcag							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:39990828_39990828AC>A	uc002xjy.1	-	3	1605	c.1381_1381GT>T	c.(1381-1383)tggfs	p.W461fs		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	461						proteinaceous extracellular matrix		p.W461fs*31(2)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CCCACTCCCCACCCCCCCATG	0.642													-	39990829	C	-	39990829	7	5	49	1	0	1	0	1	0	0	0	0	5095	494	18	0	924	0	EMILIN3	20	39990829	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	199531	39990829	23034691	1559	40440											
CHD6	84181	broad.mit.edu	37	chr20	40081533	40081533	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtcttcctcaaacgagttgTagtgtttggtctgctttctc	9	10	4	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:40081533T>C	uc002xka.1	-	21	3348	c.3170A>G	c.(3169-3171)TAC>TGC	p.Y1057C		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1057					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				AAACGAGTTGTAGTGTTTGGT	0.498													C	40081533	T	C	40081533	3	2	49	1	0	0	0	0	1	0	0	0	3329	1638	57	3	5045	3	CHD6	20	40081533	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	90704	40081533	22943987	1560	40441											
TTPAL	79183	broad.mit.edu	37	chr20	43115284	43115284	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccatgtggtgaatgaacctCgaatatttaaaggcattttt	8	6	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:43115284C>T	uc002xmc.1	+	5	812	c.688C>T	c.(688-690)CGA>TGA	p.R230*	TTPAL_uc002xmd.1_Nonsense_Mutation_p.R230*|TTPAL_uc010ggr.1_Nonsense_Mutation_p.R43*	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	230	CRAL-TRIO.					intracellular	transporter activity			breast(1)	1						GAATGAACCTCGAATATTTAA	0.388													T	43115284	C	T	43115284	4	4	49	1	0	0	0	0	0	1	0	0	16734	876	31	1	698	1	TTPAL	20	43115284	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3033751	43115284	19910236	1561	40442											
SERINC3	10955	broad.mit.edu	37	chr20	43141456	43141456	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatacccattgtgtactgcCgctcggagatctttacttgt	8	11	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:43141456C>T	uc002xme.2	-	3	515	c.381G>A	c.(379-381)GCG>GCA	p.A127A	SERINC3_uc002xmf.1_Silent_p.A127A|SERINC3_uc010ggs.1_Silent_p.A120A|SERINC3_uc010zwp.1_Silent_p.A72A	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	127	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TGTGTACTGCCGCTCGGAGAT	0.388													T	43141456	C	T	43141456	2	4	49	1	0	0	0	0	0	0	0	1	14081	639	23	1		1	SERINC3	20	43141456	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	26172	43141456	19884064	1562	40443											
PKIG	11142	broad.mit.edu	37	chr20	43243338	43243338	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacatgggcgagctggcactCgagggggcaggttagagcca	18	9	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:43243338C>T	uc002xmg.2	+	5	670	c.141C>T	c.(139-141)CTC>CTT	p.L47L	PKIG_uc002xmh.2_Silent_p.L47L|PKIG_uc002xmi.2_Silent_p.L47L	NM_181805	NP_861521	Q9Y2B9	IPKG_HUMAN	cAMP-dependent protein kinase inhibitor gamma	47							cAMP-dependent protein kinase inhibitor activity|protein binding				0		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			AGCTGGCACTCGAGGGGGCAG	0.647													T	43243338	C	T	43243338	2	4	49	1	0	0	0	0	0	0	0	1	11975	871	31	1		1	PKIG	20	43243338	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	101882	43243338	19782182	1563	40444											
ADA	100	broad.mit.edu	37	chr20	43249692	43249692	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcttcagtaaagcccatGtcccgtttggtcatctggta	8	12	4	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:43249692G>A	uc002xmj.2	-	10	1070	c.942C>T	c.(940-942)GAC>GAT	p.D314D	ADA_uc010ggt.2_RNA	NM_000022	NP_000013	P00813	ADA_HUMAN	adenosine deaminase	314					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			pancreas(2)|ovary(1)	3		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TAAAGCCCATGTCCCGTTTGG	0.512									Adenosine_Deaminase_Deficiency				A	43249692	G	A	43249692	2	1	49	1	0	0	0	0	0	0	0	1	230	1368	48	4		4	ADA	20	43249692	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	6354	43249692	19775828	1564	40445											
MATN4	8785	broad.mit.edu	37	chr20	43926908	43926908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgttaagggcacggggcCgtgcaccctgcgcctcggag	16	14	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:43926908C>T	uc002xnn.2	-	7	1515	c.1328G>A	c.(1327-1329)CGG>CAG	p.R443Q	MATN4_uc002xno.2_Missense_Mutation_p.R402Q|MATN4_uc002xnp.2_Missense_Mutation_p.R361Q|MATN4_uc010zwr.1_Missense_Mutation_p.R391Q|MATN4_uc002xnr.1_Missense_Mutation_p.R443Q	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	484	VWFA 2.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				GGCACGGGGCCGTGCACCCTG	0.667													T	43926908	C	T	43926908	3	4	49	1	0	0	0	0	1	0	0	0	9336	652	23	1	433	1	MATN4	20	43926908	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	677216	43926908	19098612	1565	40446											
SLC9A8	23315	broad.mit.edu	37	chr20	48431697	48431697	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggagcagtccagcggcaTgaccattttcttcagcctcc	10	13	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:48431697T>C	uc002xuv.1	+	2	389	c.179T>C	c.(178-180)ATG>ACG	p.M60T	SLC9A8_uc010zym.1_5'UTR|SLC9A8_uc010zyj.1_Missense_Mutation_p.M60T|SLC9A8_uc010zyk.1_Missense_Mutation_p.M60T|SLC9A8_uc010zyl.1_Missense_Mutation_p.M60T|SLC9A8_uc010gib.1_Missense_Mutation_p.M60T	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	60	Helical; (Potential).					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TCCAGCGGCATGACCATTTTC	0.582													C	48431697	T	C	48431697	3	2	49	1	0	0	0	0	1	0	0	0	14720	1464	51	3	185	3	SLC9A8	20	48431697	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	4504789	48431697	14593823	1566	40447											
CYP24A1	1591	broad.mit.edu	37	chr20	52789528	52789528	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagccgctgcgggtacgcGctctcggtgcggtacagcgc	15	15	1	0	rs114334215	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:52789528G>A	uc002xwv.2	-	2	767	c.369C>T	c.(367-369)AGC>AGT	p.S123S	CYP24A1_uc002xwu.1_5'Flank|CYP24A1_uc002xww.2_Silent_p.S123S	NM_000782	NP_000773	Q07973	CP24A_HUMAN	cytochrome P450 family 24 subfamily A	123					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GCGGGTACGCGCTCTCGGTGC	0.587													A	52789528	G	A	52789528	2	1	49	1	0	0	0	0	0	0	0	1	4154	1078	38	1		1	CYP24A1	20	52789528	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4357831	52789528	10235992	1567	40448											
ZBP1	81030	broad.mit.edu	37	chr20	56191408	56191408	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaactcctttttcattcGgtagaggacttggttgagct	9	8	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:56191408G>A	uc002xyo.2	-	2	432	c.151C>T	c.(151-153)CGA>TGA	p.R51*	ZBP1_uc010gjm.2_Nonsense_Mutation_p.R51*|ZBP1_uc002xyp.2_Intron|ZBP1_uc010zzn.1_Nonsense_Mutation_p.R51*	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1 isoform a	51	DRADA 1.					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			ovary(2)	2	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TTTTTCATTCGGTAGAGGACT	0.582													A	56191408	G	A	56191408	4	1	49	1	0	0	0	0	0	1	0	0	17518	1124	39	1	1243	1	ZBP1	20	56191408	Nonsense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	3401880	56191408	6834112	1568	40449											
RAB22A	57403	broad.mit.edu	37	chr20	56918855	56918855	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatacagctggacaagaacgAgtaagtcactctttaattta	8	7	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:56918855A>G	uc002xyz.2	+	3	460	c.198A>G	c.(196-198)CGA>CGG	p.R66R		NM_020673	NP_065724	Q9UL26	RB22A_HUMAN	RAS-related protein RAB-22A	66					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding				0	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			GACAAGAACGAGTAAGTCACT	0.398													G	56918855	A	G	56918855	2	3	49	1	0	0	0	0	0	0	0	1	12909	318	11	3		3	RAB22A	20	56918855	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	727447	56918855	6106665	1569	40450											
GNAS	2778	broad.mit.edu	37	chr20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggacctgcttcgctgcCgtgtcctgacttctggaatc	10	13	2	1	rs11554273		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:57484420C>T	uc002xzw.2	+	8	2815	c.2530C>T	c.(2530-2532)CGT>TGT	p.R844C	GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.R142C|GNAS_uc002xzx.2_Missense_Mutation_p.R142C|GNAS_uc010gjr.2_Missense_Mutation_p.R92C|GNAS_uc002xzy.2_Missense_Mutation_p.R127C|GNAS_uc002yaa.2_Missense_Mutation_p.R187C|GNAS_uc010zzt.1_Missense_Mutation_p.R202C|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.R92C|GNAS_uc002yae.2_Missense_Mutation_p.R126C	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	201	GTP (By similarity).		R -> L (in non-MAS endocrine tumors).|R -> S (in AIMAH, pituitary tumor and polyostotic fibrous dysplasia).|R -> H (in MAS, somatotrophinoma and AIMAH).|R -> G (in MAS).		activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201C(182)|p.R201S(5)		pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			T	57484420	C	T	57484420	3	4	49	1	0	0	0	0	1	0	0	0	6510	652	23	1	3448	1	GNAS	20	57484420	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	565565	57484420	5541100	1570	40451											
LAMA5	3911	broad.mit.edu	37	chr20	60902996	60902996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtgacagtcacaggggcGgcagcgggggtagccatgga	18	10	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:60902996G>A	uc002ycq.2	-	36	4790	c.4723C>T	c.(4723-4725)CGC>TGC	p.R1575C		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1575	Laminin EGF-like 14.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACAGGGGCGGCAGCGGGGG	0.682													A	60902996	G	A	60902996	3	1	49	1	0	0	0	0	1	0	0	0	8609	1116	39	1	6544	1	LAMA5	20	60902996	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	3418576	60902996	2122524	1571	40452											
ARFGAP1	55738	broad.mit.edu	37	chr20	61908657	61908657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccgtccatggtgcaccGgtagctgctcctcgtggggc	15	14	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:61908657G>A	uc002yem.2	+	5	555	c.443G>A	c.(442-444)CGA>CAA	p.R148Q	ARFGAP1_uc011aas.1_Missense_Mutation_p.R95Q|ARFGAP1_uc011aat.1_Intron|ARFGAP1_uc002yel.2_Missense_Mutation_p.R148Q|ARFGAP1_uc002yen.2_Missense_Mutation_p.R148Q	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating	148					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			pancreas(1)	1	all_cancers(38;1.59e-09)					ATGGTGCACCGGTAGCTGCTC	0.577													A	61908657	G	A	61908657	3	1	49	1	0	0	0	0	1	0	0	0	849	1130	39	1	457	1	ARFGAP1	20	61908657	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1005661	61908657	1116863	1572	40453											
COL20A1	57642	broad.mit.edu	37	chr20	61938964	61938964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcctggccagtgtcatcGcaccctttgaaatcgggccg	10	14	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:61938964G>A	uc011aau.1	+	6	719	c.619G>A	c.(619-621)GCA>ACA	p.A207T	COL20A1_uc011aav.1_Missense_Mutation_p.A28T	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	207	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					CAGTGTCATCGCACCCTTTGA	0.652													A	61938964	G	A	61938964	3	1	49	1	0	0	0	0	1	0	0	0	3679	1087	38	1	637	1	COL20A1	20	61938964	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	30307	61938964	1086556	1573	40454											
COL20A1	57642	broad.mit.edu	37	chr20	61944569	61944569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactacagggacggggcccGcagtgaccctgtgtccctcc	12	16	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:61944569G>A	uc011aau.1	+	17	2277	c.2177G>A	c.(2176-2178)CGC>CAC	p.R726H	COL20A1_uc011aav.1_Missense_Mutation_p.R547H	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	726	Fibronectin type-III 5.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					GACGGGGCCCGCAGTGACCCT	0.657													A	61944569	G	A	61944569	3	1	49	1	0	0	0	0	1	0	0	0	3679	1087	38	1	2239	1	COL20A1	20	61944569	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	5605	61944569	1080951	1574	40455											
KCNQ2	3785	broad.mit.edu	37	chr20	62046276	62046276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctgagttctgccgtgacGcggcacccttgatgcggaaa	12	12	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:62046276G>A	uc002yey.1	-	13	1682	c.1505C>T	c.(1504-1506)GCG>GTG	p.A502V	KCNQ2_uc002yez.1_Missense_Mutation_p.A472V|KCNQ2_uc002yfa.1_Missense_Mutation_p.A484V|KCNQ2_uc002yfb.1_Missense_Mutation_p.A474V	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	502	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CTGCCGTGACGCGGCACCCTT	0.672													A	62046276	G	A	62046276	3	1	49	1	0	0	0	0	1	0	0	0	8083	1087	38	1	1133	1	KCNQ2	20	62046276	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	101707	62046276	979244	1575	40456											
EEF1A2	1917	broad.mit.edu	37	chr20	62126389	62126389	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgctcccgcgtctgcccAttcttggagatgcccgcctc	10	17	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:62126389A>G	uc002yfd.1	-	3	491	c.390T>C	c.(388-390)AAT>AAC	p.N130N	EEF1A2_uc002yfe.1_Silent_p.N130N|EEF1A2_uc010gkg.1_Silent_p.N130N	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	130						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GCGTCTGCCCATTCTTGGAGA	0.677													G	62126389	A	G	62126389	2	3	49	1	0	0	0	0	0	0	0	1	4924	214	8	3		3	EEF1A2	20	62126389	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	80113	62126389	899131	1576	40457											
PRIC285	85441	broad.mit.edu	37	chr20	62198376	62198376	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacgtggcagaacatgagcgGgtagtgccgggggtggggcg	21	8	0	2	rs138788557		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:62198376G>T	uc002yfm.2	-	7	3227	c.2335C>A	c.(2335-2337)CCG>ACG	p.P779T	PRIC285_uc002yfl.1_Missense_Mutation_p.P210T	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	779					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			AACATGAGCGGGTAGTGCCGG	0.647													T	62198376	G	T	62198376	3	4	49	1	0	0	0	0	1	0	0	0	12485	1232	43	5	5670	5	PRIC285	20	62198376	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	71987	62198376	827144	1577	40458											
ZBTB46	140685	broad.mit.edu	37	chr20	62421541	62421541	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtagctgctccctccgtcGtgacagctggcgatggccga	13	15	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:62421541G>A	uc002ygv.1	-	2	771	c.570C>T	c.(568-570)CAC>CAT	p.H190H	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TCCCTCCGTCGTGACAGCTGG	0.622													A	62421541	G	A	62421541	2	1	49	1	0	0	0	0	0	0	0	1	17544	1136	40	1		1	ZBTB46	20	62421541	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	223165	62421541	603979	1578	40459											
NPBWR2	2832	broad.mit.edu	37	chr20	62737451	62737451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagagccttggctccagagCggagccgcacggcccgcagc	14	16	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:62737451C>T	uc011abt.1	-	1	734	c.734G>A	c.(733-735)CGC>CAC	p.R245H		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	245	Cytoplasmic (Potential).					plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GGCTCCAGAGCGGAGCCGCAC	0.667													T	62737451	C	T	62737451	3	4	49	1	0	0	0	0	1	0	0	0	10569	768	27	1	270	1	NPBWR2	20	62737451	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	315910	62737451	288069	1579	40460											
TMPRSS15	5651	broad.mit.edu	37	chr21	19653413	19653413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caatgtcgttgtcctttcttCgcctattgtaatgagggttt	9	8	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:19653413C>T	uc002ykw.2	-	22	2643	c.2612G>A	c.(2611-2613)CGA>CAA	p.R871Q		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	871	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						GTCCTTTCTTCGCCTATTGTA	0.363													T	19653413	C	T	19653413	3	4	49	1	0	0	0	0	1	0	0	0	16243	884	31	1	463	1	TMPRSS15	21	19653413	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08		19653413	28476482	1580	40461											
ADAMTS1	9510	broad.mit.edu	37	chr21	28210023	28210023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcttctttttttgtaacCcttcccacaggtcttagaac	5	12	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:28210023C>T	uc002ymf.2	-	9	3234	c.2779G>A	c.(2779-2781)GGT>AGT	p.G927S		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	927	TSP type-1 3.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		TTTTTGTAACCCTTCCCACAG	0.483													T	28210023	C	T	28210023	3	4	49	1	0	0	0	0	1	0	0	0	255	623	22	4	128	4	ADAMTS1	21	28210023	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	8556610	28210023	19919872	1581	40462											
RNF160	26046	broad.mit.edu	37	chr21	30359239	30359239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcaaggagttctgcagctCggccactgtttgaaggctga	14	9	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:30359239C>T	uc002ymr.2	-	2	210	c.197G>A	c.(196-198)CGA>CAA	p.R66Q	RNF160_uc010gll.1_RNA	NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	20							ligase activity|zinc ion binding				0						TTCTGCAGCTCGGCCACTGTT	0.433													T	30359239	C	T	30359239	3	4	49	1	0	0	0	0	1	0	0	0	13455	884	31	1	5357	1	RNF160	21	30359239	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2149216	30359239	17770656	1582	40463											
KRTAP24-1	643803	broad.mit.edu	37	chr21	31654858	31654858	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatttcgagtgggtatgtgGcaattgcatacatacccatt	10	8	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:31654858G>A	uc002ynv.2	-	1	419	c.393C>T	c.(391-393)TGC>TGT	p.C131C		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	131						keratin filament	structural molecule activity				0						TGGGTATGTGGCAATTGCATA	0.363													A	31654858	G	A	31654858	2	1	49	1	0	0	0	0	0	0	0	1	8542	1195	42	2		2	KRTAP24-1	21	31654858	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1295619	31654858	16475037	1583	40464											
KRTAP19-6	337973	broad.mit.edu	37	chr21	31914005	31914005	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccagagaatccatatccttCacggcatgatgggcggcagc	11	12	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:31914005C>T	uc002yok.1	-	1	177	c.148G>A	c.(148-150)GAA>AAA	p.E50K		NM_181612	NP_853643	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	50						intermediate filament					0						CCATATCCTTCACGGCATGAT	0.488													T	31914005	C	T	31914005	3	4	49	1	0	0	0	0	1	0	0	0	8533	835	29	4	32	4	KRTAP19-6	21	31914005	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	259147	31914005	16215890	1584	40465											
TIAM1	7074	broad.mit.edu	37	chr21	32639198	32639198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgtcttgtgcgagaggcGcagggagcgggaagtgtgct	19	9	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:32639198G>A	uc002yow.1	-	5	563	c.91C>T	c.(91-93)CGC>TGC	p.R31C	TIAM1_uc011adk.1_Missense_Mutation_p.R31C|TIAM1_uc011adl.1_Missense_Mutation_p.R31C|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	31					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TGCGAGAGGCGCAGGGAGCGG	0.582													A	32639198	G	A	32639198	3	1	49	1	0	0	0	0	1	0	0	0	15887	1087	38	1	4784	1	TIAM1	21	32639198	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	725193	32639198	15490697	1585	40466											
C21orf59	56683	broad.mit.edu	37	chr21	33982197	33982197	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttaaacactgcacctccGctgggtacgcatttttcacc	6	13	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:33982197G>A	uc002yqc.2	-	2	371	c.258C>T	c.(256-258)AGC>AGT	p.S86S	C21orf59_uc002ypx.1_5'Flank|C21orf59_uc002ypy.1_Silent_p.S86S|C21orf59_uc002ypz.1_Silent_p.S86S|C21orf59_uc010glx.2_Missense_Mutation_p.A10V|C21orf59_uc002yqd.2_Silent_p.S86S|C21orf59_uc002yqb.3_Silent_p.S86S|C21orf59_uc011adr.1_Intron	NM_021254	NP_067077	P57076	CU059_HUMAN	hypothetical protein LOC56683	86						cytosol|nucleus					0						CTGCACCTCCGCTGGGTACGC	0.418													A	33982197	G	A	33982197	2	1	49	1	0	0	0	0	0	0	0	1	2130	1078	38	1		1	C21orf59	21	33982197	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1342999	33982197	14147698	1586	40467											
DONSON	29980	broad.mit.edu	37	chr21	34950737	34950737	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccacagttagtaagctccTtatgaacaacctcctgtgga	7	11	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:34950737T>C	uc002ysk.2	-	10	1644	c.1577A>G	c.(1576-1578)AAG>AGG	p.K526R	DONSON_uc002ysi.1_Missense_Mutation_p.K286R|DONSON_uc002ysj.2_Missense_Mutation_p.K159R|DONSON_uc002ysl.2_Missense_Mutation_p.K159R|DONSON_uc010gme.2_Missense_Mutation_p.K499R|DONSON_uc002ysm.2_Missense_Mutation_p.K526R	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	526					multicellular organismal development	nucleus				ovary(1)|central_nervous_system(1)	2						AGTAAGCTCCTTATGAACAAC	0.388													C	34950737	T	C	34950737	3	2	49	1	0	0	0	0	1	0	0	0	4706	1609	56	3	127	3	DONSON	21	34950737	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	968540	34950737	13179158	1587	40468											
PSMG1	8624	broad.mit.edu	37	chr21	40550511	40550511	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattctgaggttttataatcGgtaacatgtcgacatgtgag	11	5	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:40550511G>A	uc002yxi.2	-	5	648	c.519C>T	c.(517-519)ACC>ACT	p.T173T	PSMG1_uc002yxj.2_Silent_p.T152T|PSMG1_uc010gob.2_Silent_p.T86T	NM_003720	NP_003711	O95456	PSMG1_HUMAN	Down syndrome critical region protein 2 isoform	173					proteasome assembly	endoplasmic reticulum	protein binding				0		Prostate(19;8.44e-08)				TTTTATAATCGGTAACATGTC	0.368													A	40550511	G	A	40550511	2	1	49	1	0	0	0	0	0	0	0	1	12711	1103	39	1		1	PSMG1	21	40550511	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	5599774	40550511	7579384	1588	40469											
DSCAM	1826	broad.mit.edu	37	chr21	41414322	41414322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatgtgcctttggaactgCcatattcattactcttcctc	6	13	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:41414322C>T	uc002yyq.1	-	32	6114	c.5662G>A	c.(5662-5664)GCA>ACA	p.A1888T	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1888	Cytoplasmic (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTTGGAACTGCCATATTCATT	0.572													T	41414322	C	T	41414322	3	4	49	1	0	0	0	0	1	0	0	0	4768	739	26	2	384	2	DSCAM	21	41414322	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	863811	41414322	6715573	1589	40470											
DSCAM	1826	broad.mit.edu	37	chr21	41496241	41496241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgctgccttcacacccgCgggaggacctggaactggaa	13	15	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:41496241C>T	uc002yyq.1	-	20	4029	c.3577G>A	c.(3577-3579)GCG>ACG	p.A1193T	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1193	Fibronectin type-III 4.|Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTCACACCCGCGGGAGGACCT	0.597													T	41496241	C	T	41496241	3	4	49	1	0	0	0	0	1	0	0	0	4768	768	27	1	2517	1	DSCAM	21	41496241	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	81919	41496241	6633654	1590	40471											
PRDM15	63977	broad.mit.edu	37	chr21	43256665	43256665	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaacccgcttgtgctccccGagctgtttgatgagcttgcg	11	12	0	2	rs148897785	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:43256665G>A	uc002yzq.1	-	16	2304	c.2193C>T	c.(2191-2193)CTC>CTT	p.L731L	PRDM15_uc002yzo.2_Silent_p.L402L|PRDM15_uc002yzp.2_Silent_p.L402L|PRDM15_uc002yzr.1_Silent_p.L402L	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	731					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGTGCTCCCCGAGCTGTTTGA	0.547													A	43256665	G	A	43256665	2	1	49	1	0	0	0	0	0	0	0	1	12456	1045	37	1		1	PRDM15	21	43256665	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1760424	43256665	4873230	1591	40472											
C2CD2	25966	broad.mit.edu	37	chr21	43327823	43327823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcagacccgctggtcagCgtgaagctctgtggcccaga	14	13	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:43327823C>T	uc002yzw.2	-	9	1331	c.1089G>A	c.(1087-1089)ACG>ACA	p.T363T	C2CD2_uc002yzt.2_5'UTR|C2CD2_uc002yzu.2_Silent_p.T195T|C2CD2_uc002yzv.2_Silent_p.T208T|C2CD2_uc002yzx.1_Silent_p.T208T	NM_015500	NP_056315	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2 isoform	363						cytosol|extracellular region|nucleus				ovary(1)	1						CGCTGGTCAGCGTGAAGCTCT	0.647													T	43327823	C	T	43327823	2	4	49	1	0	0	0	0	0	0	0	1	2152	755	27	1		1	C2CD2	21	43327823	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	71158	43327823	4802072	1592	40473											
TRAPPC10	7109	broad.mit.edu	37	chr21	45478985	45478985	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtatcttgggcgaataggAggagcttgcctttgttttcg	13	7	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:45478985A>G	uc002zea.2	+	6	849	c.680A>G	c.(679-681)GAG>GGG	p.E227G	TRAPPC10_uc010gpo.2_5'UTR|TRAPPC10_uc002zdz.2_Missense_Mutation_p.E227G	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	227					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						GGCGAATAGGAGGAGCTTGCC	0.448													G	45478985	A	G	45478985	3	3	49	1	0	0	0	0	1	0	0	0	16454	318	11	3	702	3	TRAPPC10	21	45478985	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	2151162	45478985	2650910	1593	40474											
ICOSLG	23308	broad.mit.edu	37	chr21	45655435	45655435	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcgctgacgacgggcacGctgaagtttgctgcagggga	19	9	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:45655435G>A	uc002zee.2	-	4	551	c.417C>T	c.(415-417)AGC>AGT	p.S139S	ICOSLG_uc011afc.1_Silent_p.S49S|ICOSLG_uc002zef.2_Silent_p.S22S|ICOSLG_uc010gpp.1_Silent_p.S139S	NM_015259	NP_056074	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand precursor	139	Extracellular (Potential).				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding				0				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		CGACGGGCACGCTGAAGTTTG	0.597													A	45655435	G	A	45655435	2	1	49	1	0	0	0	0	0	0	0	1	7487	1078	38	1		1	ICOSLG	21	45655435	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	176450	45655435	2474460	1594	40475											
DNMT3L	29947	broad.mit.edu	37	chr21	45679416	45679416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcgtcgtacaggaagaggGcatccaggaacttgtccttg	12	10	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:45679416G>A	uc002zeg.1	-	5	732	c.248C>T	c.(247-249)GCC>GTC	p.A83V	DNMT3L_uc002zeh.1_Missense_Mutation_p.A83V	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	cytosine-5-methyltransferase 3-like protein	83	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			skin(2)	2				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CAGGAAGAGGGCATCCAGGAA	0.587													A	45679416	G	A	45679416	3	1	49	1	0	0	0	0	1	0	0	0	4678	1203	42	2	947	2	DNMT3L	21	45679416	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	23981	45679416	2450479	1595	40476											
COL18A1	80781	broad.mit.edu	37	chr21	46895395	46895395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcaaactcctcaggcatcCggagactctggcagcgggct	11	13	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:46895395C>T	uc011afs.1	+	4	2010	c.1989C>T	c.(1987-1989)TCC>TCT	p.S663S	COL18A1_uc002zhg.2_Silent_p.S248S|COL18A1_uc002zhi.2_Silent_p.S428S	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	663	Nonhelical region 1 (NC1).			S -> F (in Ref. 1; AAC39658/AAC39659).	cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTCAGGCATCCGGAGACTCTG	0.692													T	46895395	C	T	46895395	2	4	49	1	0	0	0	0	0	0	0	1	3675	639	23	1		1	COL18A1	21	46895395	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1215979	46895395	1234500	1596	40477											
MCM3AP	8888	broad.mit.edu	37	chr21	47666772	47666772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctccacagcatcaatgGcaccatcactgagggcgcca	10	14	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:47666772G>A	uc002zir.1	-	21	4355	c.4319C>T	c.(4318-4320)GCC>GTC	p.A1440V	MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_5'UTR|MCM3AP_uc002zip.1_Missense_Mutation_p.A181V|MCM3AP_uc002ziq.1_Missense_Mutation_p.A367V|MCM3APAS_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	1440					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					AGCATCAATGGCACCATCACT	0.577													A	47666772	G	A	47666772	3	1	49	1	0	0	0	0	1	0	0	0	9388	1203	42	2	1655	2	MCM3AP	21	47666772	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	771377	47666772	463123	1597	40478											
PCNT	5116	broad.mit.edu	37	chr21	47786513	47786513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaggtttttagaggaacGtaaagagatcaccgagaaat	11	7	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:47786513G>A	uc002zji.3	+	15	2731	c.2624G>A	c.(2623-2625)CGT>CAT	p.R875H	PCNT_uc002zjj.2_Missense_Mutation_p.R757H	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	875					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					TTAGAGGAACGTAAAGAGATC	0.517													A	47786513	G	A	47786513	3	1	49	1	0	0	0	0	1	0	0	0	11590	1145	40	1	2682	1	PCNT	21	47786513	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	119741	47786513	343382	1598	40479											
PCNT	5116	broad.mit.edu	37	chr21	47801609	47801609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgttattgatgtgtacagGgtgaatttggaagtgaaaag	13	1	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:47801609G>T	uc002zji.3	+	16	3273	c.3166G>T	c.(3166-3168)GGT>TGT	p.G1056C	PCNT_uc002zjj.2_Missense_Mutation_p.G938C	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1056	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					ATGTGTACAGGGTGAATTTGG	0.408													T	47801609	G	T	47801609	3	4	49	1	0	0	0	0	1	0	0	0	11590	1246	43	5	3228	5	PCNT	21	47801609	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	15096	47801609	328286	1599	40480											
CECR2	27443	broad.mit.edu	37	chr22	18021966	18021966	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accctggatccttgcagcttGggcagataagtggcccaagt	12	11	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:18021966G>T	uc010gqw.1	+	15	2194	c.2068G>T	c.(2068-2070)GGG>TGG	p.G690W	CECR2_uc010gqv.1_Missense_Mutation_p.G549W|CECR2_uc002zml.2_Missense_Mutation_p.G549W	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	732					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		CTTGCAGCTTGGGCAGATAAG	0.612													T	18021966	G	T	18021966	3	4	49	1	0	0	0	0	1	0	0	0	3206	1348	47	5	2128	5	CECR2	22	18021966	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08		18021966	33282600	1600	40481											
DGCR2	9993	broad.mit.edu	37	chr22	19055688	19055688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctggcccgcccctgccGcggatccacagcctccttcc	8	22	1	0	rs147748890	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:19055688G>A	uc002zoq.1	-	3	501	c.253C>T	c.(253-255)CGG>TGG	p.R85W	DGCR2_uc002zor.1_5'UTR|DGCR2_uc011agr.1_Missense_Mutation_p.R44W	NM_005137	NP_005128	P98153	IDD_HUMAN	integral membrane protein DGCR2 precursor	85	Extracellular (Potential).				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			large_intestine(1)	1	Colorectal(54;0.0993)					CGCCCCTGCCGCGGATCCACA	0.627													A	19055688	G	A	19055688	3	1	49	1	0	0	0	0	1	0	0	0	4461	1086	38	1	1431	1	DGCR2	22	19055688	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1033722	19055688	32248878	1601	40482											
TBX1	6899	broad.mit.edu	37	chr22	19766891	19766891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacccttcaatacccagggCctggtggctgggaggaccgc	13	14	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:19766891C>T	uc002zqb.2	+	9	1287	c.1158C>T	c.(1156-1158)GGC>GGT	p.G386G	TBX1_uc002zqc.2_Intron	NM_080646	NP_542377	O43435	TBX1_HUMAN	T-box 1 isoform A	386					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|breast(1)	2	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				ATACCCAGGGCCTGGTGGCTG	0.592													T	19766891	C	T	19766891	2	4	49	1	0	0	0	0	0	0	0	1	15647	726	26	2		2	TBX1	22	19766891	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	711203	19766891	31537675	1602	40483											
LZTR1	8216	broad.mit.edu	37	chr22	21348040	21348040	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgtggagttcgtgctgggTgaggtgggtgcctgtcctcg	19	8	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:21348040T>C	uc002zto.2	+	12	1453	c.1350T>C	c.(1348-1350)GGT>GGC	p.G450G	LZTR1_uc002ztn.2_Silent_p.G409G|LZTR1_uc011ahy.1_Silent_p.G431G|LZTR1_uc010gsr.1_Silent_p.G321G|LZTR1_uc002ztp.2_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	450	Kelch 6.|BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCGTGCTGGGTGAGGTGGGTG	0.627													C	21348040	T	C	21348040	2	2	49	1	0	0	0	0	0	0	0	1	9137	1683	59	3		3	LZTR1	22	21348040	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1581149	21348040	29956526	1603	40484											
SLC7A4	6545	broad.mit.edu	37	chr22	21385717	21385717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggccacggcggcgccacCgatgatgtattcgaggagaa	15	11	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:21385717C>T	uc002zud.2	-	2	453	c.385G>A	c.(385-387)GGT>AGT	p.G129S	SLC7A4_uc002zue.2_Missense_Mutation_p.G129S	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	129	Helical; (Potential).				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCGGCGCCACCGATGATGTAT	0.602													T	21385717	C	T	21385717	3	4	49	1	0	0	0	0	1	0	0	0	14699	652	23	1	1538	1	SLC7A4	22	21385717	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	37677	21385717	29918849	1604	40485											
CRYBB3	1417	broad.mit.edu	37	chr22	25597378	25597378	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagatggcggaacagcaCggagcacccgaacaggctgc	17	11	0	1	rs149884520		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:25597378C>T	uc003abo.1	+	2	87	c.15C>T	c.(13-15)CAC>CAT	p.H5H		NM_004076	NP_004067	P26998	CRBB3_HUMAN	crystallin, beta B3	5	N-terminal arm.				visual perception		protein binding|structural constituent of eye lens				0						CGGAACAGCACGGAGCACCCG	0.597													T	25597378	C	T	25597378	2	4	49	1	0	0	0	0	0	0	0	1	3912	535	19	1		1	CRYBB3	22	25597378	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	4211661	25597378	25707188	1605	40486											
ADRBK2	157	broad.mit.edu	37	chr22	26118325	26118325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggcccagcggctattgCgtcgtgccccgaagttcctc	13	14	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:26118325C>T	uc003abx.3	+	21	2122	c.1975C>T	c.(1975-1977)CGT>TGT	p.R659C	ADRBK2_uc003aby.3_RNA	NM_005160	NP_005151	P35626	ARBK2_HUMAN	beta-adrenergic receptor kinase 2	659							ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	p.R659P(1)		lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7					Adenosine triphosphate(DB00171)	GCGGCTATTGCGTCGTGCCCC	0.542													T	26118325	C	T	26118325	3	4	49	1	0	0	0	0	1	0	0	0	344	768	27	1	2057	1	ADRBK2	22	26118325	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	520947	26118325	25186241	1606	40487											
OSM	5008	broad.mit.edu	37	chr22	30660414	30660414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggggcgctccctgcagtGctctctcagtttaggaacat	11	14	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:30660414G>A	uc003ahb.2	-	3	269	c.217C>T	c.(217-219)CAC>TAC	p.H73Y		NM_020530	NP_065391	P13725	ONCM_HUMAN	oncostatin M precursor	73					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			skin(1)	1			Epithelial(10;0.206)			TCCCTGCAGTGCTCTCTCAGT	0.602													A	30660414	G	A	30660414	3	1	49	1	0	0	0	0	1	0	0	0	11291	1319	46	2	545	2	OSM	22	30660414	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4542089	30660414	20644152	1607	40488											
OSBP2	23762	broad.mit.edu	37	chr22	31302243	31302243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggctggatccgctgaccGgggagatggcctgtgtgtac	17	9	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:31302243G>A	uc003aiy.1	+	14	2772	c.2668G>A	c.(2668-2670)GGG>AGG	p.G890R	OSBP2_uc011ala.1_Missense_Mutation_p.G724R|OSBP2_uc010gwc.1_Missense_Mutation_p.G717R|OSBP2_uc011alb.1_3'UTR|OSBP2_uc003aiz.1_Missense_Mutation_p.G889R|OSBP2_uc003aja.1_Missense_Mutation_p.G523R|OSBP2_uc011alc.1_Missense_Mutation_p.G633R|OSBP2_uc003ajb.2_Missense_Mutation_p.G435R|OSBP2_uc011ald.1_Missense_Mutation_p.G434R|OSBP2_uc010gwd.1_3'UTR	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	890					lipid transport	membrane	lipid binding			breast(1)|skin(1)	2						TCCGCTGACCGGGGAGATGGC	0.612													A	31302243	G	A	31302243	3	1	49	1	0	0	0	0	1	0	0	0	11274	1116	39	1	2722	1	OSBP2	22	31302243	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	641829	31302243	20002323	1608	40489											
PLA2G3	50487	broad.mit.edu	37	chr22	31533732	31533732	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accctgtgggccctggaggcCtgtgggggccacatcaagcc	15	14	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:31533732C>A	uc003aka.2	-	4	1159	c.1030G>T	c.(1030-1032)GGC>TGC	p.G344C		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	344					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0						CCCTGGAGGCCTGTGGGGGCC	0.617													A	31533732	C	A	31533732	3	1	49	1	0	0	0	0	1	0	0	0	12000	681	24	5	515	5	PLA2G3	22	31533732	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	231489	31533732	19770834	1609	40490											
PISD	23761	broad.mit.edu	37	chr22	32017778	32017778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagatgtacaggctgtagaCgggcctgcgcagccagtgtg	15	11	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:32017778C>T	uc003alm.3	-	4	422	c.415G>A	c.(415-417)GTC>ATC	p.V139I	PISD_uc003alk.2_Missense_Mutation_p.V105I|PISD_uc003all.2_Missense_Mutation_p.V104I|PISD_uc011alr.1_Missense_Mutation_p.V104I|PISD_uc003aln.3_Missense_Mutation_p.V139I	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	139					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(2)|ovary(1)	3					Phosphatidylserine(DB00144)	AGGCTGTAGACGGGCCTGCGC	0.607													T	32017778	C	T	32017778	3	4	49	1	0	0	0	0	1	0	0	0	11946	536	19	1	834	1	PISD	22	32017778	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	484046	32017778	19286788	1610	40491											
TOM1	10043	broad.mit.edu	37	chr22	35719087	35719087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggccagccaggacttcGtggagagtgtgctggtgagg	19	7	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:35719087G>A	uc003ann.2	+	4	408	c.283G>A	c.(283-285)GTG>ATG	p.V95M	TOM1_uc011ami.1_Missense_Mutation_p.V62M|TOM1_uc011amj.1_Translation_Start_Site|TOM1_uc003ans.2_Translation_Start_Site|TOM1_uc011amk.1_Missense_Mutation_p.V57M|TOM1_uc003anp.2_Missense_Mutation_p.V95M|TOM1_uc011aml.1_Missense_Mutation_p.V95M|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Missense_Mutation_p.V89M|TOM1_uc003anr.2_Translation_Start_Site	NM_005488	NP_005479	O60784	TOM1_HUMAN	target of myb1 isoform 1	95	VHS.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			ovary(1)	1						CCAGGACTTCGTGGAGAGTGT	0.602													A	35719087	G	A	35719087	3	1	49	1	0	0	0	0	1	0	0	0	16348	1145	40	1	297	1	TOM1	22	35719087	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	3701309	35719087	15585479	1611	40492											
MYH9	4627	broad.mit.edu	37	chr22	36680552	36680552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtttgcaggctgcctggCgctccctgcatgacagacaa	11	14	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:36680552C>T	uc003apg.2	-	39	5720	c.5489G>A	c.(5488-5490)CGC>CAC	p.R1830H		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1830	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GGCTGCCTGGCGCTCCCTGCA	0.622			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				T	36680552	C	T	36680552	3	4	49	1	0	0	0	0	1	0	0	0	10042	768	27	1	405	1	MYH9	22	36680552	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	961465	36680552	14624014	1612	40493											
MYH9	4627	broad.mit.edu	37	chr22	36684927	36684927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccagctcttccagctgcGtcttcatctcctccacctgc	5	20	4	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:36684927G>A	uc003apg.2	-	33	4847	c.4616C>T	c.(4615-4617)ACG>ATG	p.T1539M		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1539	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TTCCAGCTGCGTCTTCATCTC	0.627			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				A	36684927	G	A	36684927	3	1	49	1	0	0	0	0	1	0	0	0	10042	1145	40	1	1302	1	MYH9	22	36684927	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4375	36684927	14619639	1613	40494											
MYH9	4627	broad.mit.edu	37	chr22	36689446	36689446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcctccagctgctcccGgaaggaattcttctcgtcct	7	17	2	0	rs147901502	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:36689446G>A	uc003apg.2	-	30	4255	c.4024C>T	c.(4024-4026)CGG>TGG	p.R1342W		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1342	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						AGCTGCTCCCGGAAGGAATTC	0.632			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				A	36689446	G	A	36689446	3	1	49	1	0	0	0	0	1	0	0	0	10042	1115	39	1	1906	1	MYH9	22	36689446	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4519	36689446	14615120	1614	40495											
SH3BP1	23616	broad.mit.edu	37	chr22	38040646	38040646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctctctgtccccaaggaCgagtacttggctgacctgta	9	15	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:38040646C>T	uc003ati.2	+	8	732	c.621C>T	c.(619-621)GAC>GAT	p.D207D	SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_Silent_p.D207D|SH3BP1_uc003ath.1_Silent_p.D207D|SH3BP1_uc003atj.1_Silent_p.D143D|SH3BP1_uc003atk.1_Silent_p.D121D|uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	207	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					TCCCCAAGGACGAGTACTTGG	0.428													T	38040646	C	T	38040646	2	4	49	1	0	0	0	0	0	0	0	1	14244	535	19	1		1	SH3BP1	22	38040646	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1351200	38040646	13263920	1615	40496											
KCNJ4	3761	broad.mit.edu	37	chr22	38824122	38824122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtgggcctggccgttgcGgctgtgtccgtgcatgtcct	15	13	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:38824122G>A	uc003avs.1	-	2	113	c.16C>T	c.(16-18)CGC>TGC	p.R6C	KCNJ4_uc003avt.1_Missense_Mutation_p.R6C	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	6	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					TGGCCGTTGCGGCTGTGTCCG	0.657													A	38824122	G	A	38824122	3	1	49	1	0	0	0	0	1	0	0	0	8053	1116	39	1	1325	1	KCNJ4	22	38824122	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	783476	38824122	12480444	1616	40497											
GTPBP1	9567	broad.mit.edu	37	chr22	39112791	39112791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgaaattgaatctggtcGcaccagcagtgtgggcaacg	12	9	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:39112791G>A	uc003awg.2	+	4	774	c.620G>A	c.(619-621)CGC>CAC	p.R207H		NM_004286	NP_004277	O00178	GTPB1_HUMAN	GTP binding protein 1	207					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			ovary(1)	1	Melanoma(58;0.04)					GAATCTGGTCGCACCAGCAGT	0.567													A	39112791	G	A	39112791	3	1	49	1	0	0	0	0	1	0	0	0	6878	1087	38	1	634	1	GTPBP1	22	39112791	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	288669	39112791	12191775	1617	40498											
MCHR1	2847	broad.mit.edu	37	chr22	41077107	41077107	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgcaacaacgtccccgaCatcttcatcatcaacctctc	5	16	5	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:41077107C>T	uc003ayz.2	+	2	712	c.444C>T	c.(442-444)GAC>GAT	p.D148D	MCHR1_uc003aza.2_Silent_p.D37D	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	G protein-coupled receptor 24	148	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity				0						ACGTCCCCGACATCTTCATCA	0.562													T	41077107	C	T	41077107	2	4	49	1	0	0	0	0	0	0	0	1	9382	477	17	4		4	MCHR1	22	41077107	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1964316	41077107	10227459	1618	40499											
RANGAP1	5905	broad.mit.edu	37	chr22	41660826	41660826	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgagccccagctgtgaTgagtccttcccctagtgaga	11	13	0	4	rs143626610	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:41660826T>C	uc003azs.2	-	4	1792	c.322A>G	c.(322-324)ATC>GTC	p.I108V	RANGAP1_uc003azt.2_Missense_Mutation_p.I108V|RANGAP1_uc003azu.2_Missense_Mutation_p.I108V|RANGAP1_uc011aoz.1_Missense_Mutation_p.I98V	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	108					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						CCAGCTGTGATGAGTCCTTCC	0.597													C	41660826	T	C	41660826	3	2	49	1	0	0	0	0	1	0	0	0	13033	1464	51	3	1489	3	RANGAP1	22	41660826	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	583719	41660826	9643740	1619	40500											
MEI1	150365	broad.mit.edu	37	chr22	42190432	42190432	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgtttaccctcttggatgCtggagagaattccttcctca	9	11	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:42190432C>A	uc003baz.1	+	28	3510	c.3485C>A	c.(3484-3486)GCT>GAT	p.A1162D	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.A548D|MEI1_uc003bbc.1_Missense_Mutation_p.A530D|MEI1_uc010gym.1_Missense_Mutation_p.A495D|MEI1_uc003bbd.1_Missense_Mutation_p.A405D|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA|MEI1_uc011apf.1_3'UTR|MEI1_uc010gyo.1_3'UTR|MEI1_uc003bbf.2_Missense_Mutation_p.A176D|MEI1_uc003bbg.2_Missense_Mutation_p.A176D	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	1162							binding			central_nervous_system(1)|skin(1)	2						CTCTTGGATGCTGGAGAGAAT	0.498													A	42190432	C	A	42190432	3	1	49	1	0	0	0	0	1	0	0	0	9465	797	28	5	3595	5	MEI1	22	42190432	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	529606	42190432	9114134	1620	40501											
NAGA	4668	broad.mit.edu	37	chr22	42463259	42463259	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgaagttgcccatgtcCgcgtagatacccaacttcag	10	12	1	2	rs149600926		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:42463259C>T	uc003bbx.2	-	5	497	c.360G>A	c.(358-360)GCG>GCA	p.A120A	NAGA_uc003bby.2_Silent_p.A120A|NAGA_uc003bbw.3_Silent_p.A120A	NM_000262	NP_000253	P17050	NAGAB_HUMAN	alpha-N-acetylgalactosaminidase precursor	120					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)	1						TGCCCATGTCCGCGTAGATAC	0.577													T	42463259	C	T	42463259	2	4	49	1	0	0	0	0	0	0	0	1	10141	639	23	1		1	NAGA	22	42463259	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	272827	42463259	8841307	1621	40502											
PARVB	29780	broad.mit.edu	37	chr22	44495947	44495947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagaggagaacgaggagCgcacgatgattgaccccact	14	10	0	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:44495947C>T	uc003ben.2	+	3	269	c.217C>T	c.(217-219)CGC>TGC	p.R73C	PARVB_uc003bem.2_Missense_Mutation_p.R106C|PARVB_uc010gzn.2_Missense_Mutation_p.R21C|PARVB_uc003beo.2_Missense_Mutation_p.R36C	NM_013327	NP_037459	Q9HBI1	PARVB_HUMAN	parvin, beta isoform b	73					cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding				0		Ovarian(80;0.0246)|all_neural(38;0.0423)				GAACGAGGAGCGCACGATGAT	0.572													T	44495947	C	T	44495947	3	4	49	1	0	0	0	0	1	0	0	0	11469	768	27	1	446	1	PARVB	22	44495947	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2032688	44495947	6808619	1622	40503											
KIAA1644	85352	broad.mit.edu	37	chr22	44681394	44681394	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtggggcttgtggcagCgggcctgggggaggctgcgg	23	9	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:44681394C>T	uc003bet.2	-	4	646	c.513G>A	c.(511-513)CCG>CCA	p.P171P		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	hypothetical protein LOC85352 precursor	171	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				CTTGTGGCAGCGGGCCTGGGG	0.687													T	44681394	C	T	44681394	2	4	49	1	0	0	0	0	0	0	0	1	8250	755	27	1		1	KIAA1644	22	44681394	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	185447	44681394	6623172	1623	40504											
FAM118A	55007	broad.mit.edu	37	chr22	45726600	45726600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataaagacgtcactcaagaCgcagaagtcatggtacggcc	10	10	3	3	rs150737794	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:45726600C>T	uc003bfz.3	+	6	1255	c.639C>T	c.(637-639)GAC>GAT	p.D213D	FAM118A_uc003bga.3_Silent_p.D213D|FAM118A_uc011aqr.1_Silent_p.D31D	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	213						integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TCACTCAAGACGCAGAAGTCA	0.592													T	45726600	C	T	45726600	2	4	49	1	0	0	0	0	0	0	0	1	5411	535	19	1		1	FAM118A	22	45726600	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1045206	45726600	5577966	1624	40505											
PKDREJ	10343	broad.mit.edu	37	chr22	46657109	46657110	+	Frame_Shift_Ins	INS	-	-	A													cagtaagtaacctgcaggtaINSaaaaatccttcttttgaatc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:46657108_46657109T>TA	uc003bhh.3	-	0	2111_2112	c.2111_2112A>TA	c.(2110-2112)ttafs	p.L704fs		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	704	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AACCTGCAGGTAAAAAATCCTT	0.376													A	46657110	-	A	46657109	7	5	49	1	0	1	1	0	0	0	0	0	11970	372	13	0	4654	0	PKDREJ	22	46657109	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	930509	46657109	4647457	1625	40506											
CELSR1	9620	broad.mit.edu	37	chr22	46776791	46776791	+	Frame_Shift_Del	DEL	C	C	-													caggggtctcgggagcggagCcccctcgctgtacaccagcg							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:46776790_46776790GC>G	uc003bhw.1	-	21	7151	c.7151_7151GC>C	c.(7150-7152)gctfs	p.A2384fs	CELSR1_uc011arc.1_Frame_Shift_Del_p.A705fs	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2384					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGGGAGCGGAGCCCCCTCGCT	0.627													-	46776791	C	-	46776791	7	5	49	1	0	1	0	1	0	0	0	0	3221	739	26	0	1950	0	CELSR1	22	46776791	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	119682	46776791	4527775	1626	40507											
CELSR1	9620	broad.mit.edu	37	chr22	46859655	46859655	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccgccctcgcggctgcggcAgcggccgttggcgccgcacg	17	18	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:46859655A>T	uc003bhw.1	-	2	4132	c.4132T>A	c.(4132-4134)TGC>AGC	p.C1378S		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1378	Extracellular (Potential).|EGF-like 2; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGGCTGCGGCAGCGGCCGTTG	0.687													T	46859655	A	T	46859655	3	4	49	1	0	0	0	0	1	0	0	0	3221	188	7	5	5048	5	CELSR1	22	46859655	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	82864	46859655	4444911	1627	40508											
BRD1	23774	broad.mit.edu	37	chr22	50217616	50217616	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcaccttgggctccgggAgggcactggccgaggccggc	18	14	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:50217616A>C	uc003biv.2	-	1	837	c.350T>G	c.(349-351)CTC>CGC	p.L117R	BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Missense_Mutation_p.L117R|BRD1_uc011arh.1_Missense_Mutation_p.L117R|BRD1_uc003biu.3_Missense_Mutation_p.L117R	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	117					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGGCTCCGGGAGGGCACTGGC	0.607													C	50217616	A	C	50217616	3	2	49	1	0	0	0	0	1	0	0	0	1501	304	11	5	2874	5	BRD1	22	50217616	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	3357961	50217616	1086950	1628	40509											
TYMP	1890	broad.mit.edu	37	chr22	50966139	50966139	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcccgcctggtccagcagcActtgcatctggtcagacatc	10	15	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:50966139A>G	uc003bmb.3	-	4	644	c.524T>C	c.(523-525)GTG>GCG	p.V175A	SCO2_uc003bma.2_5'Flank|SCO2_uc003blz.3_5'Flank|TYMP_uc003bmc.3_Missense_Mutation_p.V175A|TYMP_uc003bmd.3_Missense_Mutation_p.V175A|TYMP_uc010hbd.2_Missense_Mutation_p.V175A|TYMP_uc003bme.3_Missense_Mutation_p.V175A|TYMP_uc003bmf.3_Missense_Mutation_p.V142A|TYMP_uc011arz.1_Missense_Mutation_p.V175A	NM_001113756	NP_001107228	P19971	TYPH_HUMAN	endothelial cell growth factor 1	175					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity	p.V175V(1)		ovary(1)	1		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	GTCCAGCAGCACTTGCATCTG	0.438													G	50966139	A	G	50966139	3	3	49	1	0	0	0	0	1	0	0	0	16808	159	6	3	948	3	TYMP	22	50966139	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	748523	50966139	338427	1629	40510											
KLHDC7B	113730	broad.mit.edu	37	chr22	50988017	50988017	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtgaaggatgcttgggaCgagtgcccatacagtgccag	14	11	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:50988017C>T	uc003bmi.2	+	1	1556	c.1422C>T	c.(1420-1422)GAC>GAT	p.D474D		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	474	Kelch 4.									central_nervous_system(1)	1		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATGCTTGGGACGAGTGCCCAT	0.682													T	50988017	C	T	50988017	2	4	49	1	0	0	0	0	0	0	0	1	8361	535	19	1		1	KLHDC7B	22	50988017	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	21878	50988017	316549	1630	40511											
SFRS17A	8227	broad.mit.edu	37	chrX	1719900	1719900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccccaaggagagcccgGcccacccagaggccgacggc	14	18	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:1719900G>A	uc004cqa.2	+	5	1697	c.1501G>A	c.(1501-1503)GCC>ACC	p.A501T	SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_Intron	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	501					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAGAGCCCGGCCCACCCAGA	0.716													A	1719900	G	A	1719900	3	1	49	1	0	0	0	0	1	0	0	0	14173	1203	42	2	1515	2	SFRS17A	23	1719900	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08		1719900	153550660	1631	40512											
ARSD	414	broad.mit.edu	37	chrX	2840009	2840009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgcagagcggggcggccGccaggtgctgagtgagcctc	20	11	0	3	rs151213601	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:2840009G>A	uc004cqy.2	-	3	327	c.251C>T	c.(250-252)GCG>GTG	p.A84V	ARSD_uc004cqz.1_Intron|ARSD_uc004cra.1_Missense_Mutation_p.A84V|ARSD_uc004crb.3_Missense_Mutation_p.A84V	NM_001669	NP_001660	P51689	ARSD_HUMAN	arylsulfatase D isoform a precursor	84						lysosome	arylsulfatase activity|metal ion binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGGGCGGCCGCCAGGTGCTG	0.547													A	2840009	G	A	2840009	3	1	49	1	0	0	0	0	1	0	0	0	989	1087	38	1	1715	1	ARSD	23	2840009	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1120109	2840009	152430551	1632	40513											
PRKX	5613	broad.mit.edu	37	chrX	3573188	3573188	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggagttcacgttcctcttAcctgtctaccagcttcttgg	8	13	4	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:3573188A>G	uc010nde.2	-	3	966	c.599_splice	c.e3+1	p.R200_splice		NM_005044	NP_005035	P51817	PRKX_HUMAN	protein kinase, X-linked								ATP binding|cAMP-dependent protein kinase activity			skin(2)|lung(1)	3		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CGTTCCTCTTACCTGTCTACC	0.512													G	3573188	A	G	3573188	5	3	49	1	0	0	0	0	0	0	1	0	12527	405	14	3	499	3	PRKX	23	3573188	Splice_Site	SNP	A	TCGA-BR-7707-01A-11D-2053-08	733179	3573188	151697372	1633	40514											
VCX3A	51481	broad.mit.edu	37	chrX	6451812	6451812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcggtagttcttccatctCgctctcctgactcagtggtt	8	13	4	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:6451812C>T	uc004crs.2	-	3	842	c.535G>A	c.(535-537)GAG>AAG	p.E179K	VCX3A_uc010ndk.1_Intron	NM_016379	NP_057463	Q9NNX9	VCX3_HUMAN	variable charge, X-linked 3A	179	8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|8.|Glu-rich.				brain development	nucleolus					0						TCTTCCATCTCGCTCTCCTGA	0.587													T	6451812	C	T	6451812	3	4	49	1	0	0	0	0	1	0	0	0	17141	893	31	1	29	1	VCX3A	23	6451812	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2878624	6451812	148818748	1634	40515											
STS	412	broad.mit.edu	37	chrX	7177678	7177678	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagccctaatcctgacccTtttcttgggcttccttcatt	6	14	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:7177678T>C	uc004cry.3	+	5	931	c.686T>C	c.(685-687)CTT>CCT	p.L229P		NM_000351	NP_000342	P08842	STS_HUMAN	steryl-sulfatase precursor	229	Helical.				female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			central_nervous_system(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	ATCCTGACCCTTTTCTTGGGC	0.512									Ichthyosis				C	7177678	T	C	7177678	3	2	49	1	0	0	0	0	1	0	0	0	15331	1609	56	3	704	3	STS	23	7177678	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	725866	7177678	148092882	1635	40516											
KAL1	3730	broad.mit.edu	37	chrX	8522075	8522075	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttccagcgggcgagtgggTcgtcgtctttgaaaagggag	16	8	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:8522075T>C	uc004csf.2	-	9	1422	c.1272A>G	c.(1270-1272)CGA>CGG	p.R424R		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	424					axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						GGCGAGTGGGTCGTCGTCTTT	0.413													C	8522075	T	C	8522075	2	2	49	1	0	0	0	0	0	0	0	1	7974	1654	58	3		3	KAL1	23	8522075	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	1344397	8522075	146748485	1636	40517											
OFD1	8481	broad.mit.edu	37	chrX	13785292	13785292	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaaggaagaagaaaaaatAcgggaacagcaagtgaaaga	11	4	0	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:13785292A>G	uc004cvp.3	+	20	3005	c.2646A>G	c.(2644-2646)ATA>ATG	p.I882M	OFD1_uc004cvr.3_Missense_Mutation_p.I412M|OFD1_uc011mil.1_Missense_Mutation_p.I449M|OFD1_uc004cvq.3_Missense_Mutation_p.I705M|OFD1_uc010nen.2_Missense_Mutation_p.I881M|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.I841M|OFD1_uc004cvv.3_Missense_Mutation_p.I841M	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	882	Mediates the interaction with SDCCAG8.|Potential.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding				0						AAGAAAAAATACGGGAACAGC	0.353													G	13785292	A	G	13785292	3	3	49	1	0	0	0	0	1	0	0	0	10838	381	14	3	2724	3	OFD1	23	13785292	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	5263217	13785292	141485268	1637	40518											
GPM6B	2824	broad.mit.edu	37	chrX	13803832	13803832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagccacatgcccacagcCgcagaataaggccaccccgg	11	16	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:13803832C>T	uc004cvz.2	-	2	448	c.157G>A	c.(157-159)GGC>AGC	p.G53S	GPM6B_uc004cvx.2_Missense_Mutation_p.G34S|GPM6B_uc011min.1_5'UTR|GPM6B_uc004cwa.2_Missense_Mutation_p.G34S|GPM6B_uc004cvw.2_Missense_Mutation_p.G93S|GPM6B_uc011mim.1_Missense_Mutation_p.G67S|GPM6B_uc004cvy.2_Missense_Mutation_p.G93S	NM_005278	NP_005269	Q13491	GPM6B_HUMAN	glycoprotein M6B isoform 3	53					cell differentiation|nervous system development	integral to membrane					0						TGCCCACAGCCGCAGAATAAG	0.587													T	13803832	C	T	13803832	3	4	49	1	0	0	0	0	1	0	0	0	6616	652	23	1	818	1	GPM6B	23	13803832	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	18540	13803832	141466728	1638	40519											
PIGA	5277	broad.mit.edu	37	chrX	15349630	15349630	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagccccattgtcttggcGtggaagagagcatcatgggc	14	9	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:15349630G>A	uc004cwr.2	-	2	523	c.423C>T	c.(421-423)CAC>CAT	p.H141H	PIGA_uc004cwq.2_Intron|PIGA_uc010nev.2_Intron|PIGA_uc004cws.2_Intron|PIGA_uc011miq.1_Intron|PIGA_uc010new.1_Intron	NM_002641	NP_002632	P37287	PIGA_HUMAN	phosphatidylinositol	141	Cytoplasmic (Potential).				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding				0	Hepatocellular(33;0.183)					TTGTCTTGGCGTGGAAGAGAG	0.468													A	15349630	G	A	15349630	2	1	49	1	0	0	0	0	0	0	0	1	11884	1136	40	1		1	PIGA	23	15349630	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1545798	15349630	139920930	1639	40520											
ACE2	59272	broad.mit.edu	37	chrX	15596275	15596275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatgcttaggtgtggctgCagaaagtgacatgatttccc	11	7	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:15596275C>T	uc004cxa.1	-	9	1402	c.1234G>A	c.(1234-1236)GCA>ACA	p.A412T	ACE2_uc004cxb.2_Missense_Mutation_p.A412T	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2 precursor	412	Extracellular (Potential).				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			ovary(3)	3	Hepatocellular(33;0.183)				Moexipril(DB00691)	GGTGTGGCTGCAGAAAGTGAC	0.408													T	15596275	C	T	15596275	3	4	49	1	0	0	0	0	1	0	0	0	137	710	25	2	1223	2	ACE2	23	15596275	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	246645	15596275	139674285	1640	40521											
NHS	4810	broad.mit.edu	37	chrX	17710497	17710497	+	Frame_Shift_Del	DEL	C	C	-													ccgagagcaaagagcagctgCccccctttccattgcagctc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:17710496_17710496GC>G	uc011mix.2	+	2	1098	c.760_760GC>G	c.(760-762)gccfs	p.A254fs	NHS_uc004cxx.3_Frame_Shift_Del_p.A254fs|NHS_uc004cxy.3_Frame_Shift_Del_p.A77fs|NHS_uc004cxz.3_Frame_Shift_Del_p.A77fs|NHS_uc004cya.3_5'UTR	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	254						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AAGAGCAGCTGCCCCCCTTTC	0.502													-	17710497	C	-	17710497	7	5	49	1	0	1	0	1	0	0	0	0	10411	739	26	0	809	0	NHS	23	17710497	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	2114222	17710497	137560063	1641	40522											
BEND2	139105	broad.mit.edu	37	chrX	18221757	18221757	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgacagaactgccataggTactgctgtagtagcattggc	12	9	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:18221757T>C	uc004cyj.3	-	5	925	c.771A>G	c.(769-771)GTA>GTG	p.V257V	BEND2_uc010nfb.2_Silent_p.V257V	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	257										ovary(3)|kidney(1)|central_nervous_system(1)	5						CTGCCATAGGTACTGCTGTAG	0.458													C	18221757	T	C	18221757	2	2	49	1	0	0	0	0	0	0	0	1	1398	1625	57	3		3	BEND2	23	18221757	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	511260	18221757	137048803	1642	40523											
RS1	6247	broad.mit.edu	37	chrX	18660170	18660170	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagctccatccggatggcaAtgcggacgtgccagcccagc	13	15	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:18660170A>C	uc004cyo.2	-	6	664	c.629T>G	c.(628-630)ATT>AGT	p.I210S	CDKL5_uc004cym.2_Intron|CDKL5_uc004cyn.2_Intron	NM_000330	NP_000321	O15537	XLRS1_HUMAN	X-linked juvenile retinoschisis protein	210	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				ovary(2)	2	Hepatocellular(33;0.183)					CCGGATGGCAATGCGGACGTG	0.662													C	18660170	A	C	18660170	3	2	49	1	0	0	0	0	1	0	0	0	13693	101	4	5	49	5	RS1	23	18660170	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	438413	18660170	136610390	1643	40524											
GPR64	10149	broad.mit.edu	37	chrX	19031936	19031936	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cataggggaagagatcgtttCagactgtgggggcatgtcaa	15	6	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:19031936C>T	uc004cyx.2	-	16	1131	c.967G>A	c.(967-969)GAA>AAA	p.E323K	GPR64_uc004cyy.2_Missense_Mutation_p.E320K|GPR64_uc004cyz.2_Missense_Mutation_p.E309K|GPR64_uc004czb.2_Missense_Mutation_p.E323K|GPR64_uc004czc.2_Missense_Mutation_p.E307K|GPR64_uc004czd.2_Missense_Mutation_p.E299K|GPR64_uc004cze.2_Missense_Mutation_p.E293K|GPR64_uc004czf.2_Missense_Mutation_p.E285K|GPR64_uc004cza.2_Missense_Mutation_p.E301K|GPR64_uc004cyw.2_Missense_Mutation_p.E307K|GPR64_uc010nfj.2_Missense_Mutation_p.E293K	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	323	Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					GAGATCGTTTCAGACTGTGGG	0.567													T	19031936	C	T	19031936	3	4	49	1	0	0	0	0	1	0	0	0	6705	835	29	4	2142	4	GPR64	23	19031936	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	371766	19031936	136238624	1644	40525											
GPR64	10149	broad.mit.edu	37	chrX	19041547	19041547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgacctttgggcctctgCtgtagcacacattataaagt	9	10	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:19041547C>T	uc004cyx.2	-	13	699	c.535G>A	c.(535-537)GCA>ACA	p.A179T	GPR64_uc004cyy.2_Missense_Mutation_p.A176T|GPR64_uc004cyz.2_Missense_Mutation_p.A165T|GPR64_uc004czb.2_Missense_Mutation_p.A179T|GPR64_uc004czc.2_Missense_Mutation_p.A163T|GPR64_uc004czd.2_Missense_Mutation_p.A155T|GPR64_uc004cze.2_Missense_Mutation_p.A149T|GPR64_uc004czf.2_Missense_Mutation_p.A141T|GPR64_uc004cza.2_Missense_Mutation_p.A157T|GPR64_uc004cyw.2_Missense_Mutation_p.A163T|GPR64_uc010nfj.2_Missense_Mutation_p.A149T	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	179	Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					TGGGCCTCTGCTGTAGCACAC	0.303													T	19041547	C	T	19041547	3	4	49	1	0	0	0	0	1	0	0	0	6705	797	28	2	2586	2	GPR64	23	19041547	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	9611	19041547	136229013	1645	40526											
CNKSR2	22866	broad.mit.edu	37	chrX	21627197	21627197	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctttctacagatgagttgCgccagtccttatgtggaagc	10	10	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:21627197C>T	uc004czx.1	+	20	2190	c.2154C>T	c.(2152-2154)TGC>TGT	p.C718C	CNKSR2_uc004czw.2_Silent_p.C718C|CNKSR2_uc011mjn.1_Silent_p.C669C|CNKSR2_uc011mjo.1_Silent_p.C688C|CNKSR2_uc004czy.2_Silent_p.C310C	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	718					regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						AGATGAGTTGCGCCAGTCCTT	0.458													T	21627197	C	T	21627197	2	4	49	1	0	0	0	0	0	0	0	1	3607	776	27	1		1	CNKSR2	23	21627197	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2585650	21627197	133643363	1646	40527											
MAGEB18	286514	broad.mit.edu	37	chrX	26157824	26157824	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcctctatggggatcccaGgaaggtcatgaccaaagatt	10	10	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:26157824G>T	uc004dbq.1	+	2	909	c.722G>T	c.(721-723)AGG>ATG	p.R241M		NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	241	MAGE.						protein binding			central_nervous_system(1)	1						GGGGATCCCAGGAAGGTCATG	0.493													T	26157824	G	T	26157824	3	4	49	1	0	0	0	0	1	0	0	0	9175	1000	35	5	724	5	MAGEB18	23	26157824	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	4530627	26157824	129112736	1647	40528											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29973260	29973260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtgtagatcaaagcaagCggctgattattgtcatgacc	11	7	2	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:29973260C>T	uc004dby.2	+	11	1922	c.1414C>T	c.(1414-1416)CGG>TGG	p.R472W		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	472	Cytoplasmic (Potential).|TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						TCAAAGCAAGCGGCTGATTAT	0.403													T	29973260	C	T	29973260	3	4	49	1	0	0	0	0	1	0	0	0	7661	759	27	1	1452	1	IL1RAPL1	23	29973260	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3815436	29973260	125297300	1648	40529											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29973572	29973572	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgagcaggctttagatgtcAgtgagcaagggccttttggg	15	6	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:29973572A>T	uc004dby.2	+	11	2234	c.1726A>T	c.(1726-1728)AGT>TGT	p.S576C		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	576	Cytoplasmic (Potential).|Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						TTTAGATGTCAGTGAGCAAGG	0.498													T	29973572	A	T	29973572	3	4	49	1	0	0	0	0	1	0	0	0	7661	188	7	5	1764	5	IL1RAPL1	23	29973572	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	312	29973572	125296988	1649	40530											
TAB3	257397	broad.mit.edu	37	chrX	30849602	30849602	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagtgctgggtggttaagaAaggtgcagctatcacaattc	12	6	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:30849602A>G	uc004dcj.2	-	11	2744	c.2081T>C	c.(2080-2082)TTT>TCT	p.F694S	TAB3_uc004dck.2_Missense_Mutation_p.F694S|TAB3_uc010ngl.2_Missense_Mutation_p.F666S	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	694	RanBP2-type.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			ovary(1)	1						GTGGTTAAGAAAGGTGCAGCT	0.512													G	30849602	A	G	30849602	3	3	49	1	0	0	0	0	1	0	0	0	15494	14	1	3	61	3	TAB3	23	30849602	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	876030	30849602	124420958	1650	40531											
FAM47B	170062	broad.mit.edu	37	chrX	34961020	34961020	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagccctggtactgtgacaaAccgccttccaagtacttcgc	8	14	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:34961020A>G	uc004ddi.1	+	1	90	c.72A>G	c.(70-72)AAA>AAG	p.K24K		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	24										ovary(3)|breast(1)	4						ACTGTGACAAACCGCCTTCCA	0.622													G	34961020	A	G	34961020	2	3	49	1	0	0	0	0	0	0	0	1	5570	40	2	3		3	FAM47B	23	34961020	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	4111418	34961020	120309540	1651	40532											
BCOR	54880	broad.mit.edu	37	chrX	39913253	39913253	+	Frame_Shift_Del	DEL	G	G	-													catcctggtcttctggtcctGgggggttggctaaaacatca							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:39913252_39913252TG>T	uc004den.4	-	13	5155	c.4863_4863CA>A	c.(4861-4863)ccafs	p.P1621fs	BCOR_uc004dep.4_Frame_Shift_Del_p.P1587fs|BCOR_uc004deo.4_Frame_Shift_Del_p.P1569fs|BCOR_uc010nhb.3_Frame_Shift_Del_p.P329fs|BCOR_uc004dem.4_Frame_Shift_Del_p.P1587fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1621					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTTCTGGTCCTGGGGGGTTGG	0.433			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						-	39913253	G	-	39913253	7	5	49	1	0	1	0	1	0	0	0	0	1386	1348	47	0	413	0	BCOR	23	39913253	Frame_Shift_Del	DEL	G	TCGA-BR-7707-01A-11D-2053-08	4952233	39913253	115357307	1652	40533											
BCOR	54880	broad.mit.edu	37	chrX	39933947	39933947	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggtagcaaggccttgtAcatgttcagtgaatacttat	10	7	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:39933947A>G	uc004den.3	-	4	944	c.652T>C	c.(652-654)TAC>CAC	p.Y218H	BCOR_uc004dep.3_Missense_Mutation_p.Y218H|BCOR_uc004deo.3_Missense_Mutation_p.Y218H|BCOR_uc004dem.3_Missense_Mutation_p.Y218H|BCOR_uc004deq.3_Missense_Mutation_p.Y218H	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	218					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						AAGGCCTTGTACATGTTCAGT	0.552													G	39933947	A	G	39933947	3	3	49	1	0	0	0	0	1	0	0	0	1386	391	14	3	4663	3	BCOR	23	39933947	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	20694	39933947	115336613	1653	40534											
USP9X	8239	broad.mit.edu	37	chrX	41089041	41089041	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagaggaggtaaaaaaAgccaccagtgtgcagcagat	12	8	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:41089041A>G	uc004dfb.2	+	43	8073	c.7440A>G	c.(7438-7440)AAA>AAG	p.K2480K	USP9X_uc004dfc.2_Intron	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	2480					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						AGGTAAAAAAAGCCACCAGTG	0.353													G	41089041	A	G	41089041	2	3	49	1	0	0	0	0	0	0	0	1	17087	69	3	3		3	USP9X	23	41089041	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1155094	41089041	114181519	1654	40535											
ZNF157	7712	broad.mit.edu	37	chrX	47269695	47269695	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtccgtgtcattcgaggaTgtggctgtggatttcacccg	15	9	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:47269695T>C	uc004dhr.1	+	2	162	c.93T>C	c.(91-93)GAT>GAC	p.D31D		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	31	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CATTCGAGGATGTGGCTGTGG	0.502													C	47269695	T	C	47269695	2	2	49	1	0	0	0	0	0	0	0	1	17734	1461	51	3		3	ZNF157	23	47269695	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	6180654	47269695	108000865	1655	40536											
ARAF	369	broad.mit.edu	37	chrX	47428435	47428435	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatctcaagtctaacagtAtctatctgtccctgggctgg	10	10	4	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:47428435A>G	uc011mlq.1	+	12	1435	c.1302_splice	c.e12+1	p.N434_splice		NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene						intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	GTCTAACAGTATCTATCTGTC	0.567											OREG0019759	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	47428435	A	G	47428435	5	3	49	1	0	0	0	0	0	0	1	0	837	464	16	3		3	ARAF	23	47428435	Splice_Site	SNP	A	TCGA-BR-7707-01A-11D-2053-08	158740	47428435	107842125	1656	40537											
SYN1	6853	broad.mit.edu	37	chrX	47478894	47478894	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaccgcgttggacagcgaCgagaagaagccaccgccccc	12	15	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:47478894C>T	uc004die.2	-	1	363	c.234G>A	c.(232-234)TCG>TCA	p.S78S	SYN1_uc004did.2_Silent_p.S78S	NM_006950	NP_008881	P17600	SYN1_HUMAN	synapsin I isoform Ia	78	B; linker.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			ovary(1)	1						TGGACAGCGACGAGAAGAAGC	0.771													T	47478894	C	T	47478894	2	4	49	1	0	0	0	0	0	0	0	1	15437	523	19	1		1	SYN1	23	47478894	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	50459	47478894	107791666	1657	40538											
ELK1	2002	broad.mit.edu	37	chrX	47498485	47498485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggaatagaggcccgagcGcatgtactcgttccggctgc	15	11	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:47498485G>A	uc004dik.3	-	4	785	c.463C>T	c.(463-465)CGC>TGC	p.R155C	ELK1_uc010nhv.2_Missense_Mutation_p.R155C|ELK1_uc010nhw.2_Missense_Mutation_p.R45C|ELK1_uc004dil.3_Intron	NM_001114123	NP_001107595	P19419	ELK1_HUMAN	ELK1 protein	155					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						AGGCCCGAGCGCATGTACTCG	0.657													A	47498485	G	A	47498485	3	1	49	1	0	0	0	0	1	0	0	0	5059	1087	38	1	839	1	ELK1	23	47498485	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	19591	47498485	107772075	1658	40539											
HDAC6	10013	broad.mit.edu	37	chrX	48681196	48681196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatactggcgcagcttacGggtcatgagtgagtggattt	14	7	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:48681196G>A	uc011mmi.1	+	24	2599	c.2504G>A	c.(2503-2505)CGG>CAG	p.R835Q	HDAC6_uc004dks.1_Missense_Mutation_p.R835Q|HDAC6_uc010nig.1_Missense_Mutation_p.R683Q|HDAC6_uc004dkt.1_Missense_Mutation_p.R835Q|HDAC6_uc011mmk.1_Missense_Mutation_p.R816Q|HDAC6_uc004dkv.1_Missense_Mutation_p.R483Q|HDAC6_uc004dkw.1_Missense_Mutation_p.R483Q|HDAC6_uc004dkx.1_Missense_Mutation_p.R198Q	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	835					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4					Vorinostat(DB02546)	CGCAGCTTACGGGTCATGAGT	0.622													A	48681196	G	A	48681196	3	1	49	1	0	0	0	0	1	0	0	0	7011	1116	39	1	2594	1	HDAC6	23	48681196	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1182711	48681196	106589364	1659	40540											
CCNB3	85417	broad.mit.edu	37	chrX	50052659	50052659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaaagaggaagcatgccaCtcaggggacaatgtcccact	10	10	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:50052659C>T	uc004dox.3	+	6	1788	c.1490C>T	c.(1489-1491)ACT>ATT	p.T497I	CCNB3_uc004doy.2_Missense_Mutation_p.T497I|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	497					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					AAGCATGCCACTCAGGGGACA	0.433													T	50052659	C	T	50052659	3	4	49	1	0	0	0	0	1	0	0	0	2914	565	20	4	1504	4	CCNB3	23	50052659	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1371463	50052659	105217901	1660	40541											
KDM5C	8242	broad.mit.edu	37	chrX	53247093	53247093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgaggcgctgggctaccCgagcccaccgacggtccttg	14	14	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:53247093C>T	uc004drz.2	-	4	940	c.407G>A	c.(406-408)CGG>CAG	p.R136Q	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.R69Q|KDM5C_uc004dsa.2_Missense_Mutation_p.R136Q	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	136	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						CTGGGCTACCCGAGCCCACCG	0.483			N|F|S		clear cell renal carcinoma								T	53247093	C	T	53247093	3	4	49	1	0	0	0	0	1	0	0	0	8135	652	23	1	4465	1	KDM5C	23	53247093	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3194434	53247093	102023467	1661	40542											
SMC1A	8243	broad.mit.edu	37	chrX	53436412	53436412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgattctcttcaatttccCgcagcttttgcttgatcttg	6	11	4	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:53436412C>T	uc004dsg.2	-	8	1346	c.1277G>A	c.(1276-1278)CGG>CAG	p.R426Q	SMC1A_uc011moe.1_Missense_Mutation_p.R404Q|SMC1A_uc011mof.1_Missense_Mutation_p.R192Q	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	426	Potential.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6						TTCAATTTCCCGCAGCTTTTG	0.493													T	53436412	C	T	53436412	3	4	49	1	0	0	0	0	1	0	0	0	14781	652	23	1	2496	1	SMC1A	23	53436412	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	189319	53436412	101834148	1662	40543											
HUWE1	10075	broad.mit.edu	37	chrX	53586416	53586416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgttgcctaccaggaggCgggcccgaccccggctttgt	13	15	0	0	rs142176360		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:53586416C>T	uc004dsp.2	-	57	8216	c.7814G>A	c.(7813-7815)CGC>CAC	p.R2605H	HUWE1_uc004dsn.2_Missense_Mutation_p.R1429H|uc004dss.2_5'Flank|MIRLET7F2_hsa-let-7f-2|MI0000068_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2605					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						TACCAGGAGGCGGGCCCGACC	0.572													T	53586416	C	T	53586416	3	4	49	1	0	0	0	0	1	0	0	0	7461	768	27	1	5422	1	HUWE1	23	53586416	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	150004	53586416	101684144	1663	40544											
PHF8	23133	broad.mit.edu	37	chrX	54044103	54044103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtgtcttaccaacatagtGttcaacatccctcacagtga	6	11	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:54044103G>A	uc004dsu.2	-	5	626	c.553C>T	c.(553-555)CAC>TAC	p.H185Y	PHF8_uc004dst.2_Missense_Mutation_p.H149Y|PHF8_uc004dsv.2_Missense_Mutation_p.H15Y|PHF8_uc004dsw.2_Missense_Mutation_p.H149Y|PHF8_uc004dsy.2_Missense_Mutation_p.H149Y	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	185					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						CCAACATAGTGTTCAACATCC	0.473													A	54044103	G	A	54044103	3	1	49	1	0	0	0	0	1	0	0	0	11840	1377	48	4	2871	4	PHF8	23	54044103	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	457687	54044103	101226457	1664	40545											
FAM120C	54954	broad.mit.edu	37	chrX	54162023	54162023	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggggaggatttccaagccTattattccgaaaacctgaag	10	8	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:54162023T>C	uc004dsz.3	-	6	1356	c.1273A>G	c.(1273-1275)AGG>GGG	p.R425G	FAM120C_uc011moh.1_Missense_Mutation_p.R425G	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	425										ovary(1)|central_nervous_system(1)	2						TTTCCAAGCCTATTATTCCGA	0.408													C	54162023	T	C	54162023	3	2	49	1	0	0	0	0	1	0	0	0	5418	1521	53	3	2061	3	FAM120C	23	54162023	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	117920	54162023	101108537	1665	40546											
FGD1	2245	broad.mit.edu	37	chrX	54482797	54482797	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcagcttatgcattcgCtcctggcaaaagacagggaa	10	10	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:54482797C>A	uc004dtg.2	-	10	2432	c.1698G>T	c.(1696-1698)GAG>GAT	p.E566D	FGD1_uc011moi.1_Missense_Mutation_p.E324D	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	566					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						TATGCATTCGCTCCTGGCAAA	0.547													A	54482797	C	A	54482797	3	1	49	1	0	0	0	0	1	0	0	0	5832	796	28	5	1223	5	FGD1	23	54482797	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	320774	54482797	100787763	1666	40547											
FGD1	2245	broad.mit.edu	37	chrX	54482983	54482983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagtgctctgctgctgtggCgatcagctccagagactcta	12	12	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:54482983C>T	uc004dtg.2	-	9	2388	c.1654G>A	c.(1654-1656)GCC>ACC	p.A552T	FGD1_uc011moi.1_Missense_Mutation_p.A310T	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	552	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GCTGCTGTGGCGATCAGCTCC	0.537													T	54482983	C	T	54482983	3	4	49	1	0	0	0	0	1	0	0	0	5832	768	27	1	1271	1	FGD1	23	54482983	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	186	54482983	100787577	1667	40548											
PAGE2	203569	broad.mit.edu	37	chrX	55116967	55116967	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgaggaaaaacgtcaagaAgaggaaccaccaactgataa	9	8	1	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:55116967A>C	uc004duf.1	+	3	171	c.117A>C	c.(115-117)GAA>GAC	p.E39D		NM_207339	NP_997222	Q7Z2X7	GGEE2_HUMAN	P antigen family, member 2	39										ovary(2)	2						AACGTCAAGAAGAGGAACCAC	0.418													C	55116967	A	C	55116967	3	2	49	1	0	0	0	0	1	0	0	0	11390	69	3	5	123	5	PAGE2	23	55116967	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	633984	55116967	100153593	1668	40549											
USP51	158880	broad.mit.edu	37	chrX	55515232	55515232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcttcacgtctcgaagaCgccttcgtagcccccgccgc	10	18	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:55515232C>T	uc004dun.1	-	2	220	c.141G>A	c.(139-141)GCG>GCA	p.A47A	USP51_uc011moo.1_5'UTR	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	47					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						GTCTCGAAGACGCCTTCGTAG	0.667													T	55515232	C	T	55515232	2	4	49	1	0	0	0	0	0	0	0	1	17080	523	19	1		1	USP51	23	55515232	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	398265	55515232	99755328	1669	40550											
ZXDB	158586	broad.mit.edu	37	chrX	57619668	57619668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaggccttaccagtgcgCgttttctggctgcaagaaga	14	9	1	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:57619668C>T	uc004dvd.2	+	1	1400	c.1187C>T	c.(1186-1188)GCG>GTG	p.A396V		NM_007157	NP_009088	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	396	C2H2-type 5.|Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						TACCAGTGCGCGTTTTCTGGC	0.542													T	57619668	C	T	57619668	3	4	49	1	0	0	0	0	1	0	0	0	18248	768	27	1	1189	1	ZXDB	23	57619668	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2104436	57619668	97650892	1670	40551											
MTMR8	55613	broad.mit.edu	37	chrX	63557257	63557257	+	Frame_Shift_Del	DEL	T	T	-													aatggactaagacactggccTtttctaccttcactgcctgt							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:63557256_63557256CT>C	uc004dvs.3	-	8	1083	c.993_993AG>G	c.(991-993)aagfs	p.K331fs	MTMR8_uc011mou.2_Frame_Shift_Del_p.K331fs	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	331	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AGACACTGGCCTTTTCTACCT	0.453													-	63557257	T	-	63557257	7	5	49	1	0	1	0	1	0	0	0	0	9949	1609	56	0	1146	0	MTMR8	23	63557257	Frame_Shift_Del	DEL	T	TCGA-BR-7707-01A-11D-2053-08	5937589	63557257	91713303	1671	40552											
FAM155B	27112	broad.mit.edu	37	chrX	68748853	68748853	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctgtctacaaggcctgGctgtgctcagaatacttcag	11	11	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:68748853G>A	uc004dxk.2	+	2	927	c.879G>A	c.(877-879)TGG>TGA	p.W293*		NM_015686	NP_056501	O75949	F155B_HUMAN	transmembrane protein 28	293						integral to membrane				ovary(1)|breast(1)	2						ACAAGGCCTGGCTGTGCTCAG	0.592													A	68748853	G	A	68748853	4	1	49	1	0	0	0	0	0	1	0	0	5466	1212	42	2	885	2	FAM155B	23	68748853	Nonsense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	5191596	68748853	86521707	1672	40553											
NLGN3	54413	broad.mit.edu	37	chrX	70384072	70384072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccctccgctgggtgagCgagaatattgccttcttcgg	13	12	1	2	rs151276700	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:70384072C>T	uc004dzd.1	+	5	1007	c.807C>T	c.(805-807)AGC>AGT	p.S269S	NLGN3_uc010nlb.1_Silent_p.S229S|NLGN3_uc004dzb.2_Silent_p.S249S|NLGN3_uc004dzc.2_Silent_p.S132S|NLGN3_uc011mps.1_Silent_p.S229S|NLGN3_uc004dze.2_Silent_p.S67S|NLGN3_uc011mpr.1_Silent_p.S229S	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	269	Extracellular (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)					GCTGGGTGAGCGAGAATATTG	0.577													T	70384072	C	T	70384072	2	4	49	1	0	0	0	0	0	0	0	1	10463	767	27	1		1	NLGN3	23	70384072	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1635219	70384072	84886488	1673	40554											
CDX4	1046	broad.mit.edu	37	chrX	72667321	72667321	+	Frame_Shift_Del	DEL	C	C	-													tctggggctcaccctacagtCccccgcgagaagactggagc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:72667320_72667320TC>T	uc011mqk.2	+	0	231	c.231_231TC>T	c.(229-231)agtfs	p.S77fs		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	77						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CACCCTACAGTCCCCCGCGAG	0.612													-	72667321	C	-	72667321	7	5	49	1	0	1	0	1	0	0	0	0	3184	855	30	0	234	0	CDX4	23	72667321	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	2283249	72667321	82603239	1674	40555											
ABCB7	22	broad.mit.edu	37	chrX	74288914	74288914	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atattttgaccagcaagataAatgctacccttttgaggctc	7	9	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:74288914A>C	uc004eca.2	-	12	1612	c.1587T>G	c.(1585-1587)ATT>ATG	p.I529M	ABCB7_uc004ebz.2_Missense_Mutation_p.I530M|ABCB7_uc011mqn.1_Missense_Mutation_p.I503M|ABCB7_uc010nls.2_Missense_Mutation_p.I490M|ABCB7_uc010nlt.2_Missense_Mutation_p.I489M	NM_004299	NP_004290	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B, member 7	529	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			ovary(1)	1						CAGCAAGATAAATGCTACCCT	0.383													C	74288914	A	C	74288914	3	2	49	1	0	0	0	0	1	0	0	0	46	10	1	5	691	5	ABCB7	23	74288914	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	1621593	74288914	80981646	1675	40556											
ATRX	546	broad.mit.edu	37	chrX	76937066	76937066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactaaattttcagtcacagGcttaattttctgttcatcgc	5	10	4	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:76937066G>A	uc004ecp.3	-	9	3914	c.3682C>T	c.(3682-3684)CCT>TCT	p.P1228S	ATRX_uc004ecq.3_Missense_Mutation_p.P1190S|ATRX_uc004eco.3_Missense_Mutation_p.P1013S|ATRX_uc004ecr.2_Missense_Mutation_p.P1160S|ATRX_uc010nlx.1_Missense_Mutation_p.P1199S|ATRX_uc010nly.1_Missense_Mutation_p.P1173S	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1228					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TCAGTCACAGGCTTAATTTTC	0.358			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76937066	G	A	76937066	3	1	49	1	0	0	0	0	1	0	0	0	1208	1203	42	2	3904	2	ATRX	23	76937066	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2648152	76937066	78333494	1676	40557											
PGK1	5230	broad.mit.edu	37	chrX	77381299	77381299	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaacaggtaaagtccttcCtggggtggatgctctcagca	11	9	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:77381299C>A	uc004ecz.3	+	11	1398	c.1226C>A	c.(1225-1227)CCT>CAT	p.P409H	PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Missense_Mutation_p.P381H	NM_000291	NP_000282	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	409					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			upper_aerodigestive_tract(1)|ovary(1)	2						AAAGTCCTTCCTGGGGTGGAT	0.443													A	77381299	C	A	77381299	3	1	49	1	0	0	0	0	1	0	0	0	11790	681	24	5	1268	5	PGK1	23	77381299	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	444233	77381299	77889261	1677	40558											
SH3BGRL	6451	broad.mit.edu	37	chrX	80532615	80532615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgaaaatagtcgaccaGccacaggttaccccctgcca	7	15	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:80532615G>A	uc004eef.2	+	2	575	c.178G>A	c.(178-180)GCC>ACC	p.A60T	SH3BGRL_uc011mqs.1_RNA|SH3BGRL_uc010nml.2_RNA|SH3BGRL_uc010nmm.2_Missense_Mutation_p.A97T|SH3BGRL_uc010nmn.2_Missense_Mutation_p.A97T	NM_003022	NP_003013	O75368	SH3L1_HUMAN	SH3 domain binding glutamic acid-rich protein	60						cytoplasm|nucleus	SH3 domain binding|SH3/SH2 adaptor activity			ovary(1)	1		all_lung(315;5.94e-05)				TAGTCGACCAGCCACAGGTTA	0.398													A	80532615	G	A	80532615	3	1	49	1	0	0	0	0	1	0	0	0	14241	971	34	2	184	2	SH3BGRL	23	80532615	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	3151316	80532615	74737945	1678	40559											
ZNF711	7552	broad.mit.edu	37	chrX	84526621	84526621	+	Frame_Shift_Del	DEL	A	A	-													ttcagacaacaaaatgagctAaaaaaacatatgaagaccca							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:84526620_84526620TA>T	uc004eeq.3	+	9	3096	c.2210_2210TA>T	c.(2209-2211)ctafs	p.L737fs	ZNF711_uc004eep.3_Frame_Shift_Del_p.L691fs|ZNF711_uc004eeo.3_Frame_Shift_Del_p.L691fs|ZNF711_uc011mqy.1_Frame_Shift_Del_p.L290fs	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	691					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CAAAATGAGCTAAAAAAACAT	0.363													-	84526621	A	-	84526621	7	5	49	1	0	1	0	1	0	0	0	0	18113	349	13	0	2099	0	ZNF711	23	84526621	Frame_Shift_Del	DEL	A	TCGA-BR-7707-01A-11D-2053-08	3994006	84526621	70743939	1679	40560											
FAM133A	286499	broad.mit.edu	37	chrX	92964422	92964422	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaaacatcaggcaccatgGggaagcgggataatcgggta	15	7	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:92964422G>T	uc004efr.1	+	4	317	c.4G>T	c.(4-6)GGG>TGG	p.G2W		NM_173698	NP_775969	Q8N9E0	F133A_HUMAN	hypothetical protein LOC286499	2											0						AGGCACCATGGGGAAGCGGGA	0.448													T	92964422	G	T	92964422	3	4	49	1	0	0	0	0	1	0	0	0	5443	1232	43	5	6	5	FAM133A	23	92964422	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	8437801	92964422	62306138	1680	40561											
PCDH19	57526	broad.mit.edu	37	chrX	99663156	99663156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcgctgtccagcgggatgCgcgtgccagggctggctgcc	17	13	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:99663156C>T	uc010nmz.2	-	1	2116	c.440G>A	c.(439-441)CGC>CAC	p.R147H	PCDH19_uc004efw.3_Missense_Mutation_p.R147H|PCDH19_uc004efx.3_Missense_Mutation_p.R147H	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	147	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						CAGCGGGATGCGCGTGCCAGG	0.597													T	99663156	C	T	99663156	3	4	49	1	0	0	0	0	1	0	0	0	11514	768	27	1	3030	1	PCDH19	23	99663156	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	6698734	99663156	55607404	1681	40562											
CSTF2	1478	broad.mit.edu	37	chrX	100078931	100078931	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgttacttcagaaccctcaActggcttatgctttgctgca	7	11	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:100078931A>T	uc004egh.2	+	5	559	c.501A>T	c.(499-501)CAA>CAT	p.Q167H	CSTF2_uc010nnd.2_Missense_Mutation_p.Q167H|CSTF2_uc004egi.2_Missense_Mutation_p.Q167H	NM_001325	NP_001316	P33240	CSTF2_HUMAN	cleavage stimulation factor subunit 2	167	Interactions with CSTF3 and SYMPK.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding			skin(1)	1						AGAACCCTCAACTGGCTTATG	0.453													T	100078931	A	T	100078931	3	4	49	1	0	0	0	0	1	0	0	0	3984	40	2	5	519	5	CSTF2	23	100078931	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	415775	100078931	55191629	1682	40563											
TRMT2B	79979	broad.mit.edu	37	chrX	100292924	100292924	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acagagggtataataggatgGagaagacaagagagcctctc	13	6	1	4			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:100292924G>T	uc004egq.2	-	4	719	c.420C>A	c.(418-420)CTC>CTA	p.L140L	TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Silent_p.L140L|TRMT2B_uc004egs.2_Silent_p.L140L|TRMT2B_uc004egt.2_Silent_p.L140L|TRMT2B_uc004egu.2_Silent_p.L21L|TRMT2B_uc004egv.2_Intron	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN	TRM2 tRNA methyltransferase 2 homolog B	140							tRNA (uracil-5-)-methyltransferase activity			ovary(1)	1						TAATAGGATGGAGAAGACAAG	0.358													T	100292924	G	T	100292924	2	4	49	1	0	0	0	0	0	0	0	1	16563	1161	41	5		5	TRMT2B	23	100292924	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	213993	100292924	54977636	1683	40564											
TMEM35	59353	broad.mit.edu	37	chrX	100349693	100349693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatgacccttgtgcctggGcgtcccaaagatgtggccaa	12	12	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:100349693G>A	uc004egw.2	+	2	408	c.252G>A	c.(250-252)GGG>GGA	p.G84G		NM_021637	NP_067650	Q53FP2	TMM35_HUMAN	transmembrane protein 35	84						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane					0						TTGTGCCTGGGCGTCCCAAAG	0.537													A	100349693	G	A	100349693	2	1	49	1	0	0	0	0	0	0	0	1	16154	1190	42	2		2	TMEM35	23	100349693	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	56769	100349693	54920867	1684	40565											
CENPI	2491	broad.mit.edu	37	chrX	100400187	100400187	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tattttggatttctatgagaAggtagtacacattacatttt	7	4	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:100400187A>C	uc004egx.2	+	16	1970	c.1700A>C	c.(1699-1701)AAG>ACG	p.K567T	CENPI_uc011mrg.1_Missense_Mutation_p.K567T	NM_006733	NP_006724	Q92674	CENPI_HUMAN	centromere protein I	567					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			skin(1)	1						TTCTATGAGAAGGTAGTACAC	0.378													C	100400187	A	C	100400187	3	2	49	1	0	0	0	0	1	0	0	0	3233	86	3	5	1758	5	CENPI	23	100400187	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	50494	100400187	54870373	1685	40566											
ARMCX3	51566	broad.mit.edu	37	chrX	100880023	100880023	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcctggtgattggggcTggcgcctgctattgcattta	15	9	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:100880023T>C	uc004ehz.1	+	5	587	c.54T>C	c.(52-54)GCT>GCC	p.A18A	ARMCX3_uc004eia.1_Silent_p.A18A|ARMCX3_uc004eib.1_Silent_p.A18A|ARMCX3_uc004eic.1_Silent_p.A18A	NM_016607	NP_057691	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	18	Helical; (Potential).					integral to membrane	binding			ovary(1)|lung(1)	2						TGATTGGGGCTGGCGCCTGCT	0.532													C	100880023	T	C	100880023	2	2	49	1	0	0	0	0	0	0	0	1	961	1567	55	3		3	ARMCX3	23	100880023	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	479836	100880023	54390537	1686	40567											
GLRA4	441509	broad.mit.edu	37	chrX	102962291	102962291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagtccacgtagagtttcCgcgtggtttctccttccctt	8	14	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:102962291C>T	uc011mse.1	-	9	1656	c.1235G>A	c.(1234-1236)CGG>CAG	p.R412Q		NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4 precursor	412	Extracellular (Potential).					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity				0						GTAGAGTTTCCGCGTGGTTTC	0.512													T	102962291	C	T	102962291	3	4	49	1	0	0	0	0	1	0	0	0	6457	652	23	1	21	1	GLRA4	23	102962291	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	2082268	102962291	52308269	1687	40568											
TEX13A	56157	broad.mit.edu	37	chrX	104464985	104464985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatattctcaagatagaactCggggcctttcgtgtgcctgg	11	9	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:104464985C>T	uc004ema.2	-	2	209	c.97G>A	c.(97-99)GAG>AAG	p.E33K	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.E33K	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	testis expressed sequence 13A	33						intracellular	zinc ion binding			ovary(2)	2						AGATAGAACTCGGGGCCTTTC	0.552													T	104464985	C	T	104464985	3	4	49	1	0	0	0	0	1	0	0	0	15773	893	31	1	1142	1	TEX13A	23	104464985	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1502694	104464985	50805575	1688	40569											
CXorf57	55086	broad.mit.edu	37	chrX	105881027	105881028	+	Frame_Shift_Ins	INS	-	-	A													atacgtatgatgccaaggtaINSaaaaactttattcaatggat							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:105881026_105881027T>TA	uc004emi.4	+	7	1596_1597	c.1445_1446T>TA	c.(1444-1446)gtafs	p.V482fs	CXorf57_uc004emj.4_Splice_Site_p.K481_splice|CXorf57_uc004emh.2_Frame_Shift_Ins_p.V482fs|Mir_548_uc022ccb.1_5'Flank	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	482										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GATGCCAAGGTAAAAAACTTTA	0.396													A	105881028	-	A	105881027	7	5	49	1	0	1	1	0	0	0	0	0	4113	349	13	0	1476	0	CXorf57	23	105881027	Frame_Shift_Ins	INS	-	TCGA-BR-7707-01A-11D-2053-08	1416042	105881027	49389533	1689	40570											
RNF128	79589	broad.mit.edu	37	chrX	105970509	105970509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttggccctcatccaacgCggcgggggctgcaccttcgc	14	15	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:105970509C>T	uc004eml.2	+	1	616	c.366C>T	c.(364-366)CGC>CGT	p.R122R	RNF128_uc004emk.2_Intron	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	ring finger protein 128 isoform 1	122	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			ovary(1)|central_nervous_system(1)	2						TCATCCAACGCGGCGGGGGCT	0.612													T	105970509	C	T	105970509	2	4	49	1	0	0	0	0	0	0	0	1	13436	755	27	1		1	RNF128	23	105970509	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	89482	105970509	49300051	1690	40571											
MORC4	79710	broad.mit.edu	37	chrX	106184843	106184843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgacgtggatacgtagccGcgtaagctttgccaaagccc	12	12	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:106184843G>A	uc004emu.3	-	17	2923	c.2680C>T	c.(2680-2682)CGG>TGG	p.R894W	MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Missense_Mutation_p.A881V|MORC4_uc004emw.3_Missense_Mutation_p.A629V	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	894							ATP binding|zinc ion binding			ovary(1)	1						ATACGTAGCCGCGTAAGCTTT	0.478													A	106184843	G	A	106184843	3	1	49	1	0	0	0	0	1	0	0	0	9704	1087	38	1	137	1	MORC4	23	106184843	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	214334	106184843	49085717	1691	40572											
COL4A5	1287	broad.mit.edu	37	chrX	107866040	107866040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctcaaaaggagagaaggggGaacctggcttaccaggtgag	16	7	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:107866040G>A	uc004enz.1	+	33	3104	c.2902G>A	c.(2902-2904)GAA>AAA	p.E968K	COL4A5_uc011mso.1_Missense_Mutation_p.E968K|COL4A5_uc004eob.1_Missense_Mutation_p.E576K	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	968	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						AGAGAAGGGGGAACCTGGCTT	0.403									Alport_syndrome_with_Diffuse_Leiomyomatosis				A	107866040	G	A	107866040	3	1	49	1	0	0	0	0	1	0	0	0	3694	1175	41	4	3032	4	COL4A5	23	107866040	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	1681197	107866040	47404520	1692	40573											
IRS4	8471	broad.mit.edu	37	chrX	107976205	107976205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggctaaagtcggctctgCagccgaagcgacagccgggg	17	11	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:107976205C>T	uc004eoc.2	-	1	3403	c.3370G>A	c.(3370-3372)GCA>ACA	p.A1124T		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	1124	Ala-rich.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						GTCGGCTCTGCAGCCGAAGCG	0.632													T	107976205	C	T	107976205	3	4	49	1	0	0	0	0	1	0	0	0	7842	710	25	2	407	2	IRS4	23	107976205	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	110165	107976205	47294355	1693	40574											
IRS4	8471	broad.mit.edu	37	chrX	107979509	107979509	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgctgctagagctgccgcTgccgccgctgctgcacctct	11	17	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:107979509T>C	uc004eoc.2	-	1	99	c.66A>G	c.(64-66)GCA>GCG	p.A22A		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	22	Poly-Ala.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						GAGCTGCCGCTGCCGCCGCTG	0.617													C	107979509	T	C	107979509	2	2	49	1	0	0	0	0	0	0	0	1	7842	1567	55	3		3	IRS4	23	107979509	Silent	SNP	T	TCGA-BR-7707-01A-11D-2053-08	3304	107979509	47291051	1694	40575											
RGAG1	57529	broad.mit.edu	37	chrX	109694908	109694908	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcactaatgacggccctaCcctctggagtgatgcccacc	9	16	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:109694908C>A	uc004eor.1	+	3	1309	c.1063C>A	c.(1063-1065)CCC>ACC	p.P355T	RGAG1_uc011msr.1_Missense_Mutation_p.P355T	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	355								p.P355H(1)		lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						GACGGCCCTACCCTCTGGAGT	0.537													A	109694908	C	A	109694908	3	1	49	1	0	0	0	0	1	0	0	0	13274	507	18	5	1065	5	RGAG1	23	109694908	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	1715399	109694908	45575652	1695	40576											
DCX	1641	broad.mit.edu	37	chrX	110653321	110653321	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatcaatggtgtaaatgtaAcgcactccctgaggcaggtt	10	10	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:110653321A>G	uc004epd.2	-	2	721	c.549T>C	c.(547-549)CGT>CGC	p.R183R	DCX_uc011msv.1_Silent_p.R183R|DCX_uc004epe.2_Silent_p.R102R|DCX_uc004epf.2_Silent_p.R102R|DCX_uc004epg.2_Silent_p.R102R	NM_000555	NP_000546	O43602	DCX_HUMAN	doublecortin isoform a	183	Doublecortin 1.		R -> S (in LISX1).		axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			central_nervous_system(2)|lung(1)|skin(1)	4						TGTAAATGTAACGCACTCCCT	0.522													G	110653321	A	G	110653321	2	3	49	1	0	0	0	0	0	0	0	1	4318	30	2	3		3	DCX	23	110653321	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	958413	110653321	44617239	1696	40577											
IL13RA1	3597	broad.mit.edu	37	chrX	117907898	117907898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcattgttccagtcatcGtcgcaggtgcaatcatagta	8	10	3	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:117907898G>A	uc004eqs.2	+	9	1109	c.1066G>A	c.(1066-1068)GTC>ATC	p.V356I	IL13RA1_uc004eqt.1_Missense_Mutation_p.V356I	NM_001560	NP_001551	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1 precursor	356	Helical; (Potential).					interleukin-13 receptor complex	cytokine receptor activity				0						TCCAGTCATCGTCGCAGGTGC	0.423													A	117907898	G	A	117907898	3	1	49	1	0	0	0	0	1	0	0	0	7629	1145	40	1	1100	1	IL13RA1	23	117907898	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	7254577	117907898	37362662	1697	40578											
KIAA1210	57481	broad.mit.edu	37	chrX	118222607	118222607	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctgctgcaatcatcagaAgtgttgtacttttcaacata	8	8	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:118222607A>G	uc004era.3	-	11	2586	c.2586T>C	c.(2584-2586)ACT>ACC	p.T862T		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	862										ovary(4)|skin(1)	5						AATCATCAGAAGTGTTGTACT	0.498													G	118222607	A	G	118222607	2	3	49	1	0	0	0	0	0	0	0	1	8214	59	3	3		3	KIAA1210	23	118222607	Silent	SNP	A	TCGA-BR-7707-01A-11D-2053-08	314709	118222607	37047953	1698	40579											
SLC25A43	203427	broad.mit.edu	37	chrX	118586945	118586945	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aattgaccccaggagtcgatCagagtttgcagccccaggaa	11	11	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:118586945C>T	uc004erd.2	+	5	1287	c.943C>T	c.(943-945)CAG>TAG	p.Q315*	SLC25A43_uc011mtt.1_3'UTR	NM_145305	NP_660348	Q8WUT9	S2543_HUMAN	mitochondrial solute carrier protein	315					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			skin(1)	1						AGGAGTCGATCAGAGTTTGCA	0.378													T	118586945	C	T	118586945	4	4	49	1	0	0	0	0	0	1	0	0	14508	827	29	4	961	4	SLC25A43	23	118586945	Nonsense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	364338	118586945	36683615	1699	40580											
SLC25A5	292	broad.mit.edu	37	chrX	118603924	118603924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaccctcttgattttgccCgtacccgtctagcagctgat	8	13	2	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:118603924C>T	uc004erh.3	+	2	528	c.412C>T	c.(412-414)CGT>TGT	p.R138C	LOC100303728_uc004ere.1_5'Flank|LOC100303728_uc004erg.1_5'Flank	NM_001152	NP_001143	P05141	ADT2_HUMAN	adenine nucleotide translocator 2	138	Solcar 2.|Helical; Name=3; (By similarity).				chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			ovary(1)	1					Clodronate(DB00720)	TGATTTTGCCCGTACCCGTCT	0.522													T	118603924	C	T	118603924	3	4	49	1	0	0	0	0	1	0	0	0	14512	652	23	1	418	1	SLC25A5	23	118603924	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	16979	118603924	36666636	1700	40581											
GRIA3	2892	broad.mit.edu	37	chrX	122538696	122538696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattgtccatcgttggtgaCgggaaatatggtgcaaggga	14	5	0	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:122538696C>T	uc004etq.3	+	11	1724	c.1431C>T	c.(1429-1431)GAC>GAT	p.D477D	GRIA3_uc004etr.3_Silent_p.D477D|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Silent_p.D461D	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	477	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)	TCGTTGGTGACGGGAAATATG	0.398													T	122538696	C	T	122538696	2	4	49	1	0	0	0	0	0	0	0	1	6769	535	19	1		1	GRIA3	23	122538696	Silent	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3934772	122538696	32731864	1701	40582											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299634	125299634	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgagggtgcccaggtccaGctggcgctccgtcagcagct	15	13	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:125299634G>T	uc004euk.1	-	1	301	c.274C>A	c.(274-276)CTG>ATG	p.L92M		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	92										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						CCCAGGTCCAGCTGGCGCTCC	0.677													T	125299634	G	T	125299634	3	4	49	1	0	0	0	0	1	0	0	0	4265	962	34	5	1121	5	DCAF12L2	23	125299634	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2760938	125299634	29970926	1702	40583											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686437	125686437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgaaccttcagatagtgcGccatcgagcgatacgtcgcc	10	15	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:125686437G>A	uc004eul.2	-	1	406	c.155C>T	c.(154-156)GCG>GTG	p.A52V		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	52										skin(3)|ovary(1)	4						CAGATAGTGCGCCATCGAGCG	0.711													A	125686437	G	A	125686437	3	1	49	1	0	0	0	0	1	0	0	0	4264	1087	38	1	1240	1	DCAF12L1	23	125686437	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	386803	125686437	29584123	1703	40584											
IGSF1	3547	broad.mit.edu	37	chrX	130412510	130412510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatggcagtggtagctccCggtgtggctctgggtcaggg	18	8	2	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:130412510C>T	uc004ewd.2	-	12	2204	c.1966G>A	c.(1966-1968)GGG>AGG	p.G656R	IGSF1_uc004ewe.3_Missense_Mutation_p.G650R|IGSF1_uc004ewf.2_Missense_Mutation_p.G636R	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	656	Extracellular (Potential).|Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						TGGTAGCTCCCGGTGTGGCTC	0.632													T	130412510	C	T	130412510	3	4	49	1	0	0	0	0	1	0	0	0	7596	652	23	1	2080	1	IGSF1	23	130412510	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	4726073	130412510	24858050	1704	40585											
GPR112	139378	broad.mit.edu	37	chrX	135390962	135390962	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaacacatcatatatcagaAgctttatggattgattctca	6	7	3	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:135390962A>C	uc004ezu.1	+	4	317	c.26A>C	c.(25-27)AAG>ACG	p.K9T	GPR112_uc010nsb.1_Missense_Mutation_p.K9T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	9					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					ATATATCAGAAGCTTTATGGA	0.308													C	135390962	A	C	135390962	3	2	49	1	0	0	0	0	1	0	0	0	6629	72	3	5	28	5	GPR112	23	135390962	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	4978452	135390962	19879598	1705	40586											
BRS3	680	broad.mit.edu	37	chrX	135574170	135574170	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtattggtgttggtggctcTgtttgccctctgctggttgc	15	8	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:135574170T>A	uc004ezv.1	+	3	985	c.836T>A	c.(835-837)CTG>CAG	p.L279Q		NM_001727	NP_001718	P32247	BRS3_HUMAN	bombesin-like receptor 3	279	Helical; Name=6; (Potential).				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)					TTGGTGGCTCTGTTTGCCCTC	0.393													A	135574170	T	A	135574170	3	1	49	1	0	0	0	0	1	0	0	0	1522	1580	55	5	846	5	BRS3	23	135574170	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	183208	135574170	19696390	1706	40587											
ATP11C	286410	broad.mit.edu	37	chrX	138864718	138864718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagttacttgtcttcaactGcagtggctccaattaaattc	6	10	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:138864718G>A	uc004faz.2	-	18	2048	c.1949C>T	c.(1948-1950)GCA>GTA	p.A650V	ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.A650V	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	650	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					GTCTTCAACTGCAGTGGCTCC	0.348													A	138864718	G	A	138864718	3	1	49	1	0	0	0	0	1	0	0	0	1121	1319	46	2	1564	2	ATP11C	23	138864718	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	3290548	138864718	16405842	1707	40588											
MAGEC3	139081	broad.mit.edu	37	chrX	140985571	140985571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgatgctactgccatgGccagtgcaagccccagtgtc	11	13	0	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:140985571G>A	uc011mwp.1	+	8	1885	c.1885G>A	c.(1885-1887)GCC>ACC	p.A629T	MAGEC3_uc004fbs.2_3'UTR|MAGEC3_uc010nsj.2_3'UTR	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	629	MAGE 2.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TACTGCCATGGCCAGTGCAAG	0.507													A	140985571	G	A	140985571	3	1	49	1	0	0	0	0	1	0	0	0	9182	1203	42	2	2282	2	MAGEC3	23	140985571	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	2120853	140985571	14284989	1708	40589											
SLITRK2	84631	broad.mit.edu	37	chrX	144905442	144905442	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacggccctaaccaggctgaAtctgagaaacaaccattttt	8	11	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:144905442A>G	uc004fcd.2	+	5	2489	c.1499A>G	c.(1498-1500)AAT>AGT	p.N500S	SLITRK2_uc010nsp.2_Missense_Mutation_p.N500S|SLITRK2_uc010nso.2_Missense_Mutation_p.N500S|SLITRK2_uc011mwq.1_Missense_Mutation_p.N500S|SLITRK2_uc011mwr.1_Missense_Mutation_p.N500S|SLITRK2_uc011mws.1_Missense_Mutation_p.N500S|SLITRK2_uc004fcg.2_Missense_Mutation_p.N500S|SLITRK2_uc011mwt.1_Missense_Mutation_p.N500S	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	500	Extracellular (Potential).|LRR 12.					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					ACCAGGCTGAATCTGAGAAAC	0.478													G	144905442	A	G	144905442	3	3	49	1	0	0	0	0	1	0	0	0	14743	101	4	3	1501	3	SLITRK2	23	144905442	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	3919871	144905442	10365118	1709	40590											
AFF2	2334	broad.mit.edu	37	chrX	148049194	148049194	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttattacatgcaagaagctaAgaagctgaagcacaaagctg	9	7	0	3			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:148049194A>C	uc004fcp.2	+	15	3718	c.3239A>C	c.(3238-3240)AAG>ACG	p.K1080T	AFF2_uc004fcq.2_Missense_Mutation_p.K1070T|AFF2_uc004fcr.2_Missense_Mutation_p.K1041T|AFF2_uc011mxb.1_Missense_Mutation_p.K1045T|AFF2_uc004fcs.2_Missense_Mutation_p.K1045T|AFF2_uc011mxc.1_Missense_Mutation_p.K721T	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1080					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGAAGCTAAGAAGCTGAAG	0.343													C	148049194	A	C	148049194	3	2	49	1	0	0	0	0	1	0	0	0	357	72	3	5	3352	5	AFF2	23	148049194	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	3143752	148049194	7221366	1710	40591											
MAGEA12	4111	broad.mit.edu	37	chrX	151900176	151900176	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtcgccctcttttgcgaTtatggccaggacgattatca	9	11	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:151900176T>C	uc010ntp.2	-	3	979	c.625A>G	c.(625-627)ATC>GTC	p.I209V	MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.I209V	NM_005367	NP_005358	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	209	MAGE.									skin(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTTTGCGATTATGGCCAGG	0.572													C	151900176	T	C	151900176	3	2	49	1	0	0	0	0	1	0	0	0	9166	1493	52	3	323	3	MAGEA12	23	151900176	Missense_Mutation	SNP	T	TCGA-BR-7707-01A-11D-2053-08	3850982	151900176	3370384	1711	40592											
ATP2B3	492	broad.mit.edu	37	chrX	152818575	152818575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatggtgaggaagatcatcGagccgatggcttgcgatggc	15	8	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:152818575G>A	uc004fht.1	+	11	2032	c.1906G>A	c.(1906-1908)GAG>AAG	p.E636K	ATP2B3_uc004fhs.1_Missense_Mutation_p.E636K	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	636	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAAGATCATCGAGCCGATGGC	0.627													A	152818575	G	A	152818575	3	1	49	1	0	0	0	0	1	0	0	0	1141	1059	37	1	1948	1	ATP2B3	23	152818575	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	918399	152818575	2451985	1712	40593											
ABCD1	215	broad.mit.edu	37	chrX	153006123	153006123	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctactcggagcaggacctggAagccatcctggacgtcgtgc	13	13	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:153006123A>G	uc004fif.2	+	7	2129	c.1730A>G	c.(1729-1731)GAA>GGA	p.E577G	ABCD1_uc004fig.2_Missense_Mutation_p.E77G|ABCD1_uc004fih.2_5'Flank	NM_000033	NP_000024	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member	577	ABC transporter.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGACCTGGAAGCCATCCTG	0.642													G	153006123	A	G	153006123	3	3	49	1	0	0	0	0	1	0	0	0	60	246	9	3	1756	3	ABCD1	23	153006123	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	187548	153006123	2264437	1713	40594											
PLXNB3	5365	broad.mit.edu	37	chrX	153038720	153038720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggaggccatcgtgtgccGtaccaggccccaggctgccc	13	17	0	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:153038720G>A	uc004fii.2	+	18	3116	c.2942G>A	c.(2941-2943)CGT>CAT	p.R981H	PLXNB3_uc010nuk.2_Missense_Mutation_p.R1004H|PLXNB3_uc011mzd.1_Missense_Mutation_p.R620H|PLXNB3_uc004fij.1_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	981	IPT/TIG 2.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCGTGTGCCGTACCAGGCCC	0.667													A	153038720	G	A	153038720	3	1	49	1	0	0	0	0	1	0	0	0	12125	1145	40	1	3126	1	PLXNB3	23	153038720	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	32597	153038720	2231840	1714	40595											
SRPK3	26576	broad.mit.edu	37	chrX	153048690	153048690	+	Frame_Shift_Del	DEL	C	C	-													tgcactcccagtcagcactgCcccccaggaggtcttggtaa							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:153048689_153048689GC>G	uc004fik.3	+	13	3380	c.955_955GC>G	c.(955-957)gccfs	p.A319fs	SRPK3_uc004fim.3_Frame_Shift_Del_p.A253fs|SRPK3_uc004fil.3_Frame_Shift_Del_p.A253fs|SRPK3_uc004fin.3_Frame_Shift_Del_p.A253fs|SRPK3_uc010nul.3_Frame_Shift_Del_p.A211fs	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA.	253	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTCAGCACTGCCCCCCAGGA	0.667													-	153048690	C	-	153048690	7	5	49	1	0	1	0	1	0	0	0	0	15160	739	26	0	788	0	SRPK3	23	153048690	Frame_Shift_Del	DEL	C	TCGA-BR-7707-01A-11D-2053-08	9970	153048690	2221870	1715	40596											
HCFC1	3054	broad.mit.edu	37	chrX	153225829	153225829	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgggggatgttgtcctccAgtgtatccatcaggatggtc	13	10	1	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:153225829A>G	uc004fjp.2	-	7	1469	c.941T>C	c.(940-942)CTG>CCG	p.L314P		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	314					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTTGTCCTCCAGTGTATCCAT	0.632													G	153225829	A	G	153225829	3	3	49	1	0	0	0	0	1	0	0	0	6991	188	7	3	5246	3	HCFC1	23	153225829	Missense_Mutation	SNP	A	TCGA-BR-7707-01A-11D-2053-08	177139	153225829	2044731	1716	40597											
IRAK1	3654	broad.mit.edu	37	chrX	153281508	153281508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttggtcctggcaccgtgcGtcttcacagccctctgacca	9	16	3	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:153281508G>A	uc004fjs.1	-	10	1356	c.1277C>T	c.(1276-1278)ACG>ATG	p.T426M	IRAK1_uc004fjr.1_Missense_Mutation_p.T426M|IRAK1_uc004fjt.1_Missense_Mutation_p.T426M|IRAK1_uc010nur.2_Intron|IRAK1_uc004fju.2_Missense_Mutation_p.T452M	NM_001569	NP_001560	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	426	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCACCGTGCGTCTTCACAGC	0.642													A	153281508	G	A	153281508	3	1	49	1	0	0	0	0	1	0	0	0	7821	1145	40	1	881	1	IRAK1	23	153281508	Missense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	55679	153281508	1989052	1717	40598											
TKTL1	8277	broad.mit.edu	37	chrX	153539311	153539311	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctttgatgtgaaccgcctgGgacacagtggtgcattgccc	12	11	1	2			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:153539311G>T	uc004fkg.2	+	4	661	c.475G>T	c.(475-477)GGA>TGA	p.G159*	TKTL1_uc011mzl.1_Nonsense_Mutation_p.G153*|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Nonsense_Mutation_p.G103*	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	159					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAACCGCCTGGGACACAGTGG	0.512													T	153539311	G	T	153539311	4	4	49	1	0	0	0	0	0	1	0	0	15932	1233	43	5	489	5	TKTL1	23	153539311	Nonsense_Mutation	SNP	G	TCGA-BR-7707-01A-11D-2053-08	257803	153539311	1731249	1718	40599											
MPP1	4354	broad.mit.edu	37	chrX	154007602	154007604	+	In_Frame_Del	DEL	CTT	CTT	-													ctgcggatggcctcagagtcCttctgcagctgctgcagggc							TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:154007601_154007603CCTT>C	uc004fmp.2	-	11	1404_1406	c.1250_1252AAGG>G	c.(1249-1254)aaggac>aGac	p.417_418KD>R	MPP1_uc011mzv.2_In_Frame_Del_p.387_388KD>R|MPP1_uc010nvg.2_In_Frame_Del_p.397_398KD>R|MPP1_uc011mzw.2_In_Frame_Del_p.400_401KD>R	NM_002436	NP_002427	Q00013	EM55_HUMAN	Homo sapiens membrane protein, palmitoylated 1, 55kDa (MPP1), transcript variant 1, mRNA.	417	Guanylate kinase-like.|Interaction with MPP5.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCCTCAGAGTCCTTCTGCAGCTG	0.502													-	154007604	CTT	-	154007602	7	5	49	1	0	1	0	1	0	0	0	0	9733	680	24	0	153	0	MPP1	23	154007602	In_Frame_Del	DEL	CTT	TCGA-BR-7707-01A-11D-2053-08	468291	154007602	1262958	1719	40600											
RAB39B	116442	broad.mit.edu	37	chrX	154490316	154490316	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatgcagcagccagtttctcGgcctcgtggcgagtcacttg	12	12	2	0			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:154490316G>T	uc004fne.2	-	2	693	c.414C>A	c.(412-414)GCC>GCA	p.A138A		NM_171998	NP_741995	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	138					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGTTTCTCGGCCTCGTGGC	0.488													T	154490316	G	T	154490316	2	4	49	1	0	0	0	0	0	0	0	1	12930	1103	39	5		5	RAB39B	23	154490316	Silent	SNP	G	TCGA-BR-7707-01A-11D-2053-08	482714	154490316	780244	1720	40601											
RAB39B	116442	broad.mit.edu	37	chrX	154493486	154493486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacctgggcaaagcgaccctCggtgaagcggcggatcaggc	15	12	1	1			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:154493486C>T	uc004fne.2	-	1	367	c.88G>A	c.(88-90)GAG>AAG	p.E30K		NM_171998	NP_741995	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	30					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAGCGACCCTCGGTGAAGCGG	0.602													T	154493486	C	T	154493486	3	4	49	1	0	0	0	0	1	0	0	0	12930	893	31	1	561	1	RAB39B	23	154493486	Missense_Mutation	SNP	C	TCGA-BR-7707-01A-11D-2053-08	3170	154493486	777074	1721	40602											
AGRN	375790	broad.mit.edu	37	chr1	980791	980791	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcacctgtgacccagcCacaggccagtgctcctgccg	13	17	0	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:980791C>T	uc001ack.1	+	14	2474	c.2424C>T	c.(2422-2424)GCC>GCT	p.A808A		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	808	Laminin EGF-like 1.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GTGACCCAGCCACAGGCCAGT	0.667													T	980791	C	T	980791	2	4	50	1	0	0	0	0	0	0	0	1	397	581	21	4		4	AGRN	1	980791	Silent	SNP	C	TCGA-BR-7715-01A-11D-2053-08		980791	248269830	1	40603											
HSPG2	3339	broad.mit.edu	37	chr1	22211066	22211066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcagcctgatctggtcccGgaagcggcgggtgctctggc	17	13	2	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:22211066G>A	uc001bfj.2	-	13	1649	c.1609C>T	c.(1609-1611)CGG>TGG	p.R537W	HSPG2_uc009vqd.2_Missense_Mutation_p.R538W	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	537					angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ATCTGGTCCCGGAAGCGGCGG	0.667													A	22211066	G	A	22211066	3	1	50	1	0	0	0	0	1	0	0	0	7430	1115	39	1	11906	1	HSPG2	1	22211066	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	21230275	22211066	227039555	2	40604											
OSCP1	127700	broad.mit.edu	37	chr1	36898072	36898072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgctgcaggatggttgggGagtctcggatgaatcccttg	15	8	1	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:36898072G>A	uc001cap.2	-	4	498	c.416C>T	c.(415-417)TCC>TTC	p.S139F	OSCP1_uc001caq.2_Missense_Mutation_p.S129F|OSCP1_uc001car.2_Missense_Mutation_p.S129F	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN	oxidored-nitro domain-containing protein isoform	139					transport	basal plasma membrane				ovary(2)|central_nervous_system(1)|pancreas(1)	4						GATGGTTGGGGAGTCTCGGAT	0.502													A	36898072	G	A	36898072	3	1	50	1	0	0	0	0	1	0	0	0	11286	1174	41	4	945	4	OSCP1	1	36898072	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	14687006	36898072	212352549	3	40605											
PODN	127435	broad.mit.edu	37	chr1	53535676	53535676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaatttgcggaggaggagcCggtgctggtactgagccctg	17	9	0	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:53535676C>T	uc001cuv.2	+	2	300	c.293C>T	c.(292-294)CCG>CTG	p.P98L	PODN_uc001cuw.2_Missense_Mutation_p.P79L|PODN_uc010onr.1_Missense_Mutation_p.P79L|PODN_uc010ons.1_Missense_Mutation_p.P98L	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	50					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2						GAGGAGGAGCCGGTGCTGGTA	0.672													T	53535676	C	T	53535676	3	4	50	1	0	0	0	0	1	0	0	0	12178	652	23	1	299	1	PODN	1	53535676	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	16637604	53535676	195714945	4	40606											
SGIP1	84251	broad.mit.edu	37	chr1	67195054	67195054	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgacttttcgggtgataaAtttcagcaggttagaacacg	10	7	2	3			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:67195054A>C	uc001dcr.2	+	20	2067	c.1850A>C	c.(1849-1851)AAT>ACT	p.N617T	SGIP1_uc010opd.1_Missense_Mutation_p.N217T|SGIP1_uc001dcs.2_Missense_Mutation_p.N217T|SGIP1_uc001dct.2_Missense_Mutation_p.N219T|SGIP1_uc009wat.2_Missense_Mutation_p.N411T|SGIP1_uc001dcu.2_Missense_Mutation_p.N122T	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	617					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						CGGGTGATAAATTTCAGCAGG	0.438													C	67195054	A	C	67195054	3	2	50	1	0	0	0	0	1	0	0	0	14206	101	4	5	1928	5	SGIP1	1	67195054	Missense_Mutation	SNP	A	TCGA-BR-7715-01A-11D-2053-08	13659378	67195054	182055567	5	40607											
LPHN2	23266	broad.mit.edu	37	chr1	82408687	82408687	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaccttgaaagcaattgtGgactcaccatgtatatatga	10	7	1	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:82408687G>A	uc001dit.3	+	6	613	c.432G>A	c.(430-432)GTG>GTA	p.V144V	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Silent_p.V144V|LPHN2_uc001div.2_Silent_p.V144V|LPHN2_uc009wcd.2_Silent_p.V144V	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	144	Extracellular (Potential).|Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAGCAATTGTGGACTCACCAT	0.408													A	82408687	G	A	82408687	2	1	50	1	0	0	0	0	0	0	0	1	8916	1335	47	4		4	LPHN2	1	82408687	Silent	SNP	G	TCGA-BR-7715-01A-11D-2053-08	15213633	82408687	166841934	6	40608											
TTLL7	79739	broad.mit.edu	37	chr1	84373332	84373332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgagggcagctgactgaaCgtcttatggagcctatcagt	12	10	2	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:84373332C>T	uc001djc.2	-	16	2195	c.1799G>A	c.(1798-1800)CGT>CAT	p.R600H	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	600					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GCTGACTGAACGTCTTATGGA	0.433													T	84373332	C	T	84373332	3	4	50	1	0	0	0	0	1	0	0	0	16729	536	19	1	888	1	TTLL7	1	84373332	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	1964645	84373332	164877289	7	40609											
PRMT6	55170	broad.mit.edu	37	chr1	107599821	107599821	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtggatgggctacggactcCtgcacgagtccatgctgagc	14	11	0	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:107599821C>A	uc010ous.1	+	1	555	c.484C>A	c.(484-486)CTG>ATG	p.L162M		NM_018137	NP_060607	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	162					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity				0		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CTACGGACTCCTGCACGAGTC	0.652													A	107599821	C	A	107599821	3	1	50	1	0	0	0	0	1	0	0	0	12540	680	24	5	486	5	PRMT6	1	107599821	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	23226489	107599821	141650800	8	40610											
SV2A	9900	broad.mit.edu	37	chr1	149885086	149885086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgcccccagactctgcccGgggaatgccctgatattccc	9	16	1	2	rs144624887		TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:149885086G>A	uc001etg.2	-	2	798	c.307C>T	c.(307-309)CGG>TGG	p.R103W	SV2A_uc001eth.2_Missense_Mutation_p.R103W	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	103	Cytoplasmic (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GACTCTGCCCGGGGAATGCCC	0.632													A	149885086	G	A	149885086	3	1	50	1	0	0	0	0	1	0	0	0	15414	1115	39	1	1969	1	SV2A	1	149885086	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	42285265	149885086	99365535	9	40611											
HRNR	388697	broad.mit.edu	37	chr1	152193722	152193722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcactccaacttgaatgaCtaaaagaggattcttgccgt	8	10	1	3			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:152193722C>T	uc001ezt.1	-	3	459	c.383G>A	c.(382-384)AGT>AAT	p.S128N		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	128	1.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTTGAATGACTAAAAGAGGA	0.428													T	152193722	C	T	152193722	3	4	50	1	0	0	0	0	1	0	0	0	7359	565	20	4	8173	4	HRNR	1	152193722	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	2308636	152193722	97056899	10	40612											
SMG5	23381	broad.mit.edu	37	chr1	156236063	156236063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggcggagacaggagaggCgagagaacttacggctcttt	16	8	1	3			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:156236063C>T	uc001foc.3	-	12	1513	c.1364G>A	c.(1363-1365)CGC>CAC	p.R455H	SMG5_uc009wrv.2_5'UTR	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	455					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					ACAGGAGAGGCGAGAGAACTT	0.582													T	156236063	C	T	156236063	3	4	50	1	0	0	0	0	1	0	0	0	14796	768	27	1	1730	1	SMG5	1	156236063	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	4042341	156236063	93014558	11	40613											
OR10J3	441911	broad.mit.edu	37	chr1	159283850	159283850	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacagacgctgacaacaaaGttgattatctcattgacagt	7	9	1	4			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:159283850G>T	uc010piu.1	-	1	600	c.600C>A	c.(598-600)AAC>AAA	p.N200K		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	200	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)					TGACAACAAAGTTGATTATCT	0.473													T	159283850	G	T	159283850	3	4	50	1	0	0	0	0	1	0	0	0	10911	1020	36	5	391	5	OR10J3	1	159283850	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	3047787	159283850	89966771	12	40614											
DUSP27	92235	broad.mit.edu	37	chr1	167088640	167088640	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggatgactttcctgaggtgGacatttcccagcatttccgg	11	10	0	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:167088640G>T	uc001geb.1	+	4	592	c.592G>T	c.(592-594)GAC>TAC	p.D198Y		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	198					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						TCCTGAGGTGGACATTTCCCA	0.572													T	167088640	G	T	167088640	3	4	50	1	0	0	0	0	1	0	0	0	4824	1174	41	5	606	5	DUSP27	1	167088640	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	7804790	167088640	82161981	13	40615											
KIFAP3	22920	broad.mit.edu	37	chr1	170007467	170007467	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccaagttatcaggatttcGagcaagctgcaggatcaaag	10	8	2	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:170007467G>A	uc001ggv.2	-	5	752	c.481C>T	c.(481-483)CGA>TGA	p.R161*	KIFAP3_uc010ply.1_Nonsense_Mutation_p.R83*|KIFAP3_uc001ggw.1_Nonsense_Mutation_p.R117*	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	161					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCAGGATTTCGAGCAAGCTGC	0.308													A	170007467	G	A	170007467	4	1	50	1	0	0	0	0	0	1	0	0	8311	1066	37	1	1961	1	KIFAP3	1	170007467	Nonsense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	2918827	170007467	79243154	14	40616											
SLC9A11	284525	broad.mit.edu	37	chr1	173550993	173550993	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atttcagccttaccaatataGaaagtcatgtacaccattga	5	9	2	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:173550993G>C	uc001giz.2	-	7	1218	c.795C>G	c.(793-795)TTC>TTG	p.F265L	SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	265	Helical; (Potential).				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						TACCAATATAGAAAGTCATGT	0.318													C	173550993	G	C	173550993	3	2	50	1	0	0	0	0	1	0	0	0	14711	933	33	5	2667	5	SLC9A11	1	173550993	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	3543526	173550993	75699628	15	40617											
FAM5C	339479	broad.mit.edu	37	chr1	190067604	190067604	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaaatgtcttccatttgttCcccagagttaatgtccagtt	6	9	1	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:190067604C>T	uc001gse.1	-	8	2077	c.1845G>A	c.(1843-1845)GGG>GGA	p.G615G	FAM5C_uc010pot.1_Silent_p.G513G	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	615						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					TCCATTTGTTCCCCAGAGTTA	0.443													T	190067604	C	T	190067604	2	4	50	1	0	0	0	0	0	0	0	1	5594	842	30	4		4	FAM5C	1	190067604	Silent	SNP	C	TCGA-BR-7715-01A-11D-2053-08	16516611	190067604	59183017	16	40618											
CHI3L1	1116	broad.mit.edu	37	chr1	203148899	203148899	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacctaccttgcttttgAcgctttcctggtcgtcgtat	9	11	0	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:203148899A>G	uc001gzi.2	-	9	1172	c.1001T>C	c.(1000-1002)GTC>GCC	p.V334A	FMOD_uc010pqi.1_Intron|CHI3L1_uc001gzk.1_Missense_Mutation_p.V70A|CHI3L1_uc001gzj.2_Missense_Mutation_p.V273A|CHI3L1_uc001gzl.3_5'Flank	NM_001276	NP_001267	P36222	CH3L1_HUMAN	chitinase 3-like 1 precursor	334					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			pancreas(1)	1						CTTGCTTTTGACGCTTTCCTG	0.587													G	203148899	A	G	203148899	3	3	50	1	0	0	0	0	1	0	0	0	3340	275	10	3	158	3	CHI3L1	1	203148899	Missense_Mutation	SNP	A	TCGA-BR-7715-01A-11D-2053-08	13081295	203148899	46101722	17	40619											
PLEKHA6	22874	broad.mit.edu	37	chr1	204219673	204219673	+	Splice_Site	DEL	C	C	-													agcagggggcgctgctcttaCatctgtgtcttgctcgttta							TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:204219673delC	uc001hau.2	-	10	1910	c.1593_splice	c.e10+1	p.D531_splice	PLEKHA6_uc009xaw.1_Splice_Site_p.D229_splice|PLEKHA6_uc009xax.1_Splice_Site_p.D211_splice|PLEKHA6_uc009xay.1_Splice_Site_p.D182_splice|PLEKHA6_uc009xaz.1_Splice_Site|PLEKHA6_uc009xba.1_Splice_Site_p.D202_splice|PLEKHA6_uc009xbb.1_Splice_Site_p.D184_splice|PLEKHA6_uc009xbc.1_Intron	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3											ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCTGCTCTTACATCTGTGTCT	0.607													-	204219673	C	-	204219673	8	5	50	1	0	1	0	1	0	0	1	0	12060	492	17	0	1604	0	PLEKHA6	1	204219673	Splice_Site	DEL	C	TCGA-BR-7715-01A-11D-2053-08	1070774	204219673	45030948	18	40620											
DISP1	84976	broad.mit.edu	37	chr1	223164006	223164006	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactggccggtggtggtcttGggcatgtgcaccatgttcat	15	9	2	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:223164006G>A	uc001hnu.1	+	4	726	c.579G>A	c.(577-579)TTG>TTA	p.L193L		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	193	Helical; (Potential).				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TGGTGGTCTTGGGCATGTGCA	0.478													A	223164006	G	A	223164006	2	1	50	1	0	0	0	0	0	0	0	1	4539	1339	47	4		4	DISP1	1	223164006	Silent	SNP	G	TCGA-BR-7715-01A-11D-2053-08	18944333	223164006	26086615	19	40621											
TP53BP2	7159	broad.mit.edu	37	chr1	223983962	223983962	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgctatggtggtcctctgaTataaaagcttctgaatattt	8	8	2	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:223983962T>C	uc010pvb.1	-	13	2571	c.2279A>G	c.(2278-2280)TAT>TGT	p.Y760C	TP53BP2_uc001hod.2_Missense_Mutation_p.Y631C|TP53BP2_uc010puz.1_Translation_Start_Site|TP53BP2_uc010pva.1_Missense_Mutation_p.Y399C	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	754					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		GGTCCTCTGATATAAAAGCTT	0.468													C	223983962	T	C	223983962	3	2	50	1	0	0	0	0	1	0	0	0	16381	1406	49	3	1149	3	TP53BP2	1	223983962	Missense_Mutation	SNP	T	TCGA-BR-7715-01A-11D-2053-08	819956	223983962	25266659	20	40622											
ACTN2	88	broad.mit.edu	37	chr1	236911005	236911005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgtgaatgtcaatgatcGgtgccagaaaatttgtgacc	11	8	1	4			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:236911005G>A	uc001hyf.2	+	13	1649	c.1445G>A	c.(1444-1446)CGG>CAG	p.R482Q	ACTN2_uc001hyg.2_Missense_Mutation_p.R274Q|ACTN2_uc009xgi.1_Missense_Mutation_p.R482Q|ACTN2_uc010pxu.1_Missense_Mutation_p.R171Q|ACTN2_uc001hyh.2_Missense_Mutation_p.R170Q	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	482	Spectrin 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GTCAATGATCGGTGCCAGAAA	0.418													A	236911005	G	A	236911005	3	1	50	1	0	0	0	0	1	0	0	0	205	1116	39	1	1495	1	ACTN2	1	236911005	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	12927043	236911005	12339616	21	40623											
OR2M7	391196	broad.mit.edu	37	chr1	248487101	248487101	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgggctgaatgcacatgAacaaacctgctccatagtac	9	10	0	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:248487101A>G	uc010pzk.1	-	1	770	c.770T>C	c.(769-771)TTC>TCC	p.F257S		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	257	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AATGCACATGAACAAACCTGC	0.468													G	248487101	A	G	248487101	3	3	50	1	0	0	0	0	1	0	0	0	11014	246	9	3	171	3	OR2M7	1	248487101	Missense_Mutation	SNP	A	TCGA-BR-7715-01A-11D-2053-08	11576096	248487101	763520	22	40624											
SNTG2	54221	broad.mit.edu	37	chr2	1094065	1094065	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgagcacaacgtccctgtCgtcatatcaaaaatattcga	6	11	3	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:1094065C>T	uc002qwq.2	+	4	422	c.294C>T	c.(292-294)GTC>GTT	p.V98V	SNTG2_uc002qwp.2_RNA|SNTG2_uc010ewi.2_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	98	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		ACGTCCCTGTCGTCATATCAA	0.383													T	1094065	C	T	1094065	2	4	50	1	0	0	0	0	0	0	0	1	14875	871	31	1		1	SNTG2	2	1094065	Silent	SNP	C	TCGA-BR-7715-01A-11D-2053-08		1094065	242105308	23	40625											
GREB1	9687	broad.mit.edu	37	chr2	11755365	11755365	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgaggccttggagagtgatGctgagaagctgagcagcaca	15	8	0	4			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:11755365G>T	uc002rbk.1	+	20	3571	c.3271G>T	c.(3271-3273)GCT>TCT	p.A1091S	GREB1_uc002rbp.1_Missense_Mutation_p.A89S	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1091						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGAGAGTGATGCTGAGAAGCT	0.582													T	11755365	G	T	11755365	3	4	50	1	0	0	0	0	1	0	0	0	6760	1319	46	5	3453	5	GREB1	2	11755365	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	10661300	11755365	231444008	24	40626											
DDX1	1653	broad.mit.edu	37	chr2	15769793	15769793	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagactcaaggaagatggagGctgtaccatatggtacaacg	12	7	1	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:15769793G>T	uc002rce.2	+	24	2231	c.1943G>T	c.(1942-1944)GGC>GTC	p.G648V		NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	648	Helicase C-terminal.|Necessary for interaction with HNRNPK.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GAAGATGGAGGCTGTACCATA	0.348													T	15769793	G	T	15769793	3	4	50	1	0	0	0	0	1	0	0	0	4341	1203	42	5	2037	5	DDX1	2	15769793	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	4014428	15769793	227429580	25	40627											
FBXO11	80204	broad.mit.edu	37	chr2	48035360	48035360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtacaaggattagacagtGttccagcaccacagtcacag	9	10	1	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:48035360G>A	uc010fbl.2	-	23	2543	c.2429C>T	c.(2428-2430)ACA>ATA	p.T810I	FBXO11_uc002rwe.2_Missense_Mutation_p.T810I|FBXO11_uc010fbk.2_Missense_Mutation_p.T318I	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	894	UBR-type.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATTAGACAGTGTTCCAGCACC	0.393													A	48035360	G	A	48035360	3	1	50	1	0	0	0	0	1	0	0	0	5727	1377	48	4	106	4	FBXO11	2	48035360	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	32265567	48035360	195164013	26	40628											
IL1R2	7850	broad.mit.edu	37	chr2	102626041	102626041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggctgccagaagctgcCggtttcgtgggaggcattac	16	10	0	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:102626041C>T	uc002tbm.2	+	3	314	c.85C>T	c.(85-87)CGG>TGG	p.R29W	IL1R2_uc002tbn.2_Missense_Mutation_p.R29W|IL1R2_uc002tbo.1_Missense_Mutation_p.R29W	NM_004633	NP_004624	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II precursor	29	Extracellular (Potential).|Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			ovary(1)|breast(1)	2					Anakinra(DB00026)	CAGAAGCTGCCGGTTTCGTGG	0.597													T	102626041	C	T	102626041	3	4	50	1	0	0	0	0	1	0	0	0	7659	643	23	1	91	1	IL1R2	2	102626041	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	54590681	102626041	140573332	27	40629											
ZEB2	9839	broad.mit.edu	37	chr2	145162441	145162441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcctctggcgtgccaaggCgagacagctcctcaggggct	15	13	2	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:145162441C>T	uc002tvu.2	-	5	1034	c.554G>A	c.(553-555)CGC>CAC	p.R185H	ZEB2_uc002tvv.2_Missense_Mutation_p.R179H|ZEB2_uc010zbm.1_Missense_Mutation_p.R156H|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.R214H	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	185						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		CGTGCCAAGGCGAGACAGCTC	0.507													T	145162441	C	T	145162441	3	4	50	1	0	0	0	0	1	0	0	0	17621	768	27	1	3114	1	ZEB2	2	145162441	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	42536400	145162441	98036932	28	40630											
SCN1A	6323	broad.mit.edu	37	chr2	166854619	166854619	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggtgaagaaggacccaaAgatgatgaaaataacaaagt	10	5	0	5			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:166854619A>G	uc010zcz.1	-	23	4390	c.4372T>C	c.(4372-4374)TTT>CTT	p.F1458L	SCN1A_uc002udo.3_Missense_Mutation_p.F1338L|SCN1A_uc010fpk.2_Missense_Mutation_p.F1310L	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1469	Helical; Name=S6 of repeat III; (By similarity).|III.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAGGACCCAAAGATGATGAAA	0.338													G	166854619	A	G	166854619	3	3	50	1	0	0	0	0	1	0	0	0	13914	72	3	3	1640	3	SCN1A	2	166854619	Missense_Mutation	SNP	A	TCGA-BR-7715-01A-11D-2053-08	21692178	166854619	76344754	29	40631											
G6PC2	57818	broad.mit.edu	37	chr2	169761040	169761040	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatctggccatgcaatgggCgcatcctgtgtctggtatgt	12	11	2	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:169761040C>T	uc002uem.2	+	3	446	c.354C>T	c.(352-354)GGC>GGT	p.G118G	G6PC2_uc002uen.2_Silent_p.G118G|G6PC2_uc010fpv.2_Silent_p.G2G	NM_021176	NP_066999	Q9NQR9	G6PC2_HUMAN	islet-specific glucose-6-phosphatase-related	118	Helical; (Potential).				gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			pancreas(1)	1						ATGCAATGGGCGCATCCTGTG	0.463													T	169761040	C	T	169761040	2	4	50	1	0	0	0	0	0	0	0	1	6144	755	27	1		1	G6PC2	2	169761040	Silent	SNP	C	TCGA-BR-7715-01A-11D-2053-08	2906421	169761040	73438333	30	40632											
DNAH7	56171	broad.mit.edu	37	chr2	196852950	196852950	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttgttggtttagacttacTttcctaaacaagggggtaaa	11	5	0	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:196852950T>G	uc002utj.3	-	13	1458	c.1357A>C	c.(1357-1359)AGT>CGT	p.S453R		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	453	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TTAGACTTACTTTCCTAAACA	0.308													G	196852950	T	G	196852950	3	3	50	1	0	0	0	0	1	0	0	0	4606	1609	56	5	10929	5	DNAH7	2	196852950	Missense_Mutation	SNP	T	TCGA-BR-7715-01A-11D-2053-08	27091910	196852950	46346423	31	40633											
SPATS2L	26010	broad.mit.edu	37	chr2	201337696	201337696	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caataagccctctgaaggcaAagcggcaaaccccaaaatgg	9	12	1	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:201337696A>C	uc002uvn.3	+	12	1554	c.1202A>C	c.(1201-1203)AAA>ACA	p.K401T	SPATS2L_uc010fst.2_Missense_Mutation_p.K401T|SPATS2L_uc002uvo.3_Missense_Mutation_p.K341T|SPATS2L_uc002uvp.3_Missense_Mutation_p.K401T|SPATS2L_uc002uvq.3_Missense_Mutation_p.K332T|SPATS2L_uc002uvr.3_Missense_Mutation_p.K401T|SPATS2L_uc010zhc.1_Missense_Mutation_p.K431T	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	SPATS2-like protein isoform a	401						cytoplasm|nucleolus				ovary(2)|pancreas(1)	3						TCTGAAGGCAAAGCGGCAAAC	0.572													C	201337696	A	C	201337696	3	2	50	1	0	0	0	0	1	0	0	0	15019	14	1	5	1240	5	SPATS2L	2	201337696	Missense_Mutation	SNP	A	TCGA-BR-7715-01A-11D-2053-08	4484746	201337696	41861677	32	40634											
ADAM23	8745	broad.mit.edu	37	chr2	207431960	207431960	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctcagggtgtcccattctCgaaaattttcaaagtgcagc	8	11	3	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:207431960C>T	uc002vbq.2	+	15	1631	c.1408C>T	c.(1408-1410)CGA>TGA	p.R470*	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	470	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GTCCCATTCTCGAAAATTTTC	0.358													T	207431960	C	T	207431960	4	4	50	1	0	0	0	0	0	1	0	0	245	876	31	1	1466	1	ADAM23	2	207431960	Nonsense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	6094264	207431960	35767413	33	40635											
SPAG16	79582	broad.mit.edu	37	chr2	214215281	214215281	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acattatgcatcttatgaacCgactataagggtgttacatg	8	7	1	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:214215281C>A	uc002veq.2	+	7	766	c.674C>A	c.(673-675)CCG>CAG	p.P225Q	SPAG16_uc010fuz.1_Missense_Mutation_p.P76Q|SPAG16_uc002ver.2_Missense_Mutation_p.P171Q|SPAG16_uc010zjk.1_Missense_Mutation_p.P131Q|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Missense_Mutation_p.P194Q	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	225	Potential.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TCTTATGAACCGACTATAAGG	0.348													A	214215281	C	A	214215281	3	1	50	1	0	0	0	0	1	0	0	0	14978	652	23	5	716	5	SPAG16	2	214215281	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	6783321	214215281	28984092	34	40636											
TRPM8	79054	broad.mit.edu	37	chr2	234869689	234869689	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagacagaaatggccgggaCgagatggacatagaactcca	13	8	0	4	rs142882642		TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:234869689C>T	uc002vvh.2	+	12	1672	c.1632C>T	c.(1630-1632)GAC>GAT	p.D544D	TRPM8_uc010fyj.2_Silent_p.D232D	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	544	Cytoplasmic (Potential).					integral to membrane				skin(4)	4		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ATGGCCGGGACGAGATGGACA	0.488													T	234869689	C	T	234869689	2	4	50	1	0	0	0	0	0	0	0	1	16589	535	19	1		1	TRPM8	2	234869689	Silent	SNP	C	TCGA-BR-7715-01A-11D-2053-08	20654408	234869689	8329684	35	40637											
ATP2B2	491	broad.mit.edu	37	chr3	10430051	10430051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcacacccacagcagtcaCcaacatccgtcctgagccct	6	18	2	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr3:10430051C>T	uc003bvt.2	-	6	1256	c.817G>A	c.(817-819)GTG>ATG	p.V273M	ATP2B2_uc003bvv.2_Missense_Mutation_p.V273M|ATP2B2_uc003bvw.2_Missense_Mutation_p.V273M|ATP2B2_uc010hdp.2_Missense_Mutation_p.V273M|ATP2B2_uc010hdo.2_Missense_Mutation_p.V9M	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	273	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						ACAGCAGTCACCAACATCCGT	0.517													T	10430051	C	T	10430051	3	4	50	1	0	0	0	0	1	0	0	0	1140	507	18	4	2986	4	ATP2B2	3	10430051	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08		10430051	187592379	36	40638											
TRANK1	9881	broad.mit.edu	37	chr3	36874650	36874650	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagttcaaatccaggtcaaAaattattcttaatatgggcc	6	8	3	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr3:36874650A>C	uc003cgj.2	-	12	4944	c.4642T>G	c.(4642-4644)TTT>GTT	p.F1548V		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2098					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TCCAGGTCAAAAATTATTCTT	0.378													C	36874650	A	C	36874650	3	2	50	1	0	0	0	0	1	0	0	0	16451	14	1	5	2497	5	TRANK1	3	36874650	Missense_Mutation	SNP	A	TCGA-BR-7715-01A-11D-2053-08	26444599	36874650	161147780	37	40639											
FEZF2	55079	broad.mit.edu	37	chr3	62358230	62358232	+	In_Frame_Del	DEL	CCG	CCG	-													cgccaccgccgccgccgcctCcgccgccgcccgcccggagg							TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr3:62358230_62358232delCCG	uc003dlh.2	-	1	519_521	c.312_314delCGG	c.(310-315)GGCGGA>GGA	p.104_105GG>G	FEZF2_uc003dli.2_In_Frame_Del_p.104_105GG>G	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	104_105	Gly-rich.				transcription, DNA-dependent	nucleus	zinc ion binding			lung(1)	1		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		gccgccgcctccgccgccgccCG	0.502													-	62358232	CCG	-	62358230	7	5	50	1	0	1	0	1	0	0	0	0	5826	855	30	0	1081	0	FEZF2	3	62358230	In_Frame_Del	DEL	CCG	TCGA-BR-7715-01A-11D-2053-08	25483580	62358230	135664200	38	40640											
LSAMP	4045	broad.mit.edu	37	chr3	115805190	115805190	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtacgatcaagtaaacTtgggaggtcttgggctcatg	12	8	3	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr3:115805190T>C	uc003ebt.2	-	2	869	c.369A>G	c.(367-369)CAA>CAG	p.Q123Q	LSAMP_uc011bis.1_Silent_p.Q123Q	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	123					cell adhesion|nervous system development	anchored to membrane|plasma membrane					0		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		TCAAGTAAACTTGGGAGGTCT	0.438													C	115805190	T	C	115805190	2	2	50	1	0	0	0	0	0	0	0	1	9048	1606	56	3		3	LSAMP	3	115805190	Silent	SNP	T	TCGA-BR-7715-01A-11D-2053-08	53446960	115805190	82217240	39	40641											
MSL2	55167	broad.mit.edu	37	chr3	135870710	135870710	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctggatcgttttctattcAattttgctatcttcggagtt	7	7	4	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr3:135870710A>G	uc003eqx.1	-	2	1746	c.1013T>C	c.(1012-1014)TTG>TCG	p.L338S	MSL2_uc011bmb.1_Missense_Mutation_p.L264S	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	338					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						TTTTCTATTCAATTTTGCTAT	0.453													G	135870710	A	G	135870710	3	3	50	1	0	0	0	0	1	0	0	0	9878	131	5	3	724	3	MSL2	3	135870710	Missense_Mutation	SNP	A	TCGA-BR-7715-01A-11D-2053-08	20065520	135870710	62151720	40	40642											
MECOM	2122	broad.mit.edu	37	chr3	168845679	168845679	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattccttacactcctggatCgtgtgtatctcttggagatc	8	11	1	1	rs150481592		TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr3:168845679C>T	uc003ffi.3	-	4	488	c.219G>A	c.(217-219)ACG>ACA	p.T73T	MECOM_uc010hwk.1_Silent_p.T96T|MECOM_uc003ffj.3_Silent_p.T137T|MECOM_uc011bpi.1_Silent_p.T73T|MECOM_uc003ffn.3_Silent_p.T73T|MECOM_uc003ffk.2_Silent_p.T73T|MECOM_uc003ffl.2_Silent_p.T233T|MECOM_uc011bpj.1_Silent_p.T261T|MECOM_uc011bpk.1_Silent_p.T63T|MECOM_uc010hwn.2_Silent_p.T261T|MECOM_uc003ffm.1_Silent_p.T137T	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	73	Interaction with MAPK9, SMAD3 and probably SUV39H1.				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						ACTCCTGGATCGTGTGTATCT	0.388													T	168845679	C	T	168845679	2	4	50	1	0	0	0	0	0	0	0	1	9422	871	31	1		1	MECOM	3	168845679	Silent	SNP	C	TCGA-BR-7715-01A-11D-2053-08	32974969	168845679	29176751	41	40643											
CRMP1	1400	broad.mit.edu	37	chr4	5827283	5827283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggctggtgtttagaaggcGaagatttggctgaaggagcg	19	4	0	3			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:5827283G>A	uc003gip.2	-	14	1666	c.1565C>T	c.(1564-1566)TCG>TTG	p.S522L	EVC_uc003gim.1_Intron|CRMP1_uc003gin.1_Missense_Mutation_p.S434L|CRMP1_uc003giq.2_Missense_Mutation_p.S522L|CRMP1_uc003gir.2_Missense_Mutation_p.S517L|CRMP1_uc003gis.2_Missense_Mutation_p.S636L	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	522					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		TTTAGAAGGCGAAGATTTGGC	0.532													A	5827283	G	A	5827283	3	1	50	1	0	0	0	0	1	0	0	0	3890	1059	37	1	161	1	CRMP1	4	5827283	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08		5827283	185326993	42	40644											
JAKMIP1	152789	broad.mit.edu	37	chr4	6055827	6055827	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcgttctgatccttggcgtCttgcatttcattcttcagct	7	12	5	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:6055827C>A	uc003giu.3	-	13	2032	c.1756G>T	c.(1756-1758)GAC>TAC	p.D586Y	JAKMIP1_uc010idb.1_Missense_Mutation_p.D586Y|JAKMIP1_uc010idc.1_Missense_Mutation_p.D401Y|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc011bwc.1_Missense_Mutation_p.D421Y|JAKMIP1_uc003giv.3_Missense_Mutation_p.D586Y|JAKMIP1_uc010ide.2_3'UTR	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	586	Mediates interaction with TYK2 and GABBR1.|Potential.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						TCCTTGGCGTCTTGCATTTCA	0.453													A	6055827	C	A	6055827	3	1	50	1	0	0	0	0	1	0	0	0	7940	913	32	5	850	5	JAKMIP1	4	6055827	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	228544	6055827	185098449	43	40645											
RBM47	54502	broad.mit.edu	37	chr4	40440609	40440609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcaaagtccatcatgaggCgcagctcgtagatgcggccc	12	13	2	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:40440609C>T	uc003gvc.2	-	4	1012	c.302G>A	c.(301-303)CGC>CAC	p.R101H	RBM47_uc003gvd.2_Missense_Mutation_p.R101H|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.R63H|RBM47_uc003gvg.1_Missense_Mutation_p.R101H	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	101	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(3)	3						CATCATGAGGCGCAGCTCGTA	0.632													T	40440609	C	T	40440609	3	4	50	1	0	0	0	0	1	0	0	0	13141	768	27	1	1495	1	RBM47	4	40440609	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	34384782	40440609	150713667	44	40646											
ATP10D	57205	broad.mit.edu	37	chr4	47514786	47514786	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctatgtgaacaatcgaataCgaacaacaaagtacacactt	5	10	0	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:47514786C>T	uc003gxk.1	+	2	393	c.229C>T	c.(229-231)CGA>TGA	p.R77*	ATP10D_uc003gxj.3_Nonsense_Mutation_p.R77*	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	77	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						CAATCGAATACGAACAACAAA	0.388													T	47514786	C	T	47514786	4	4	50	1	0	0	0	0	0	1	0	0	1118	528	19	1	231	1	ATP10D	4	47514786	Nonsense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	7074177	47514786	143639490	45	40647											
NFXL1	152518	broad.mit.edu	37	chr4	47877167	47877167	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cattccacatacaggcttgtGatcttacagtgacattttat	6	9	1	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:47877167G>C	uc010igh.2	-	18	2400	c.2223C>G	c.(2221-2223)ATC>ATG	p.I741M	NFXL1_uc003gxo.2_Missense_Mutation_p.I66M|NFXL1_uc003gxp.2_Missense_Mutation_p.I741M|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Missense_Mutation_p.I741M	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like	741						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						ACAGGCTTGTGATCTTACAGT	0.358													C	47877167	G	C	47877167	3	2	50	1	0	0	0	0	1	0	0	0	10388	1280	45	5	536	5	NFXL1	4	47877167	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	362381	47877167	143277109	46	40648											
CNGA1	1259	broad.mit.edu	37	chr4	47938591	47938591	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagccaagattcgggcaaaCctggtttgcaggaggtctac	12	10	2	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:47938591C>A	uc003gxt.3	-	11	2186	c.1920G>T	c.(1918-1920)AGG>AGT	p.R640S	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.R709S	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	640	Cytoplasmic (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2						TTCGGGCAAACCTGGTTTGCA	0.433													A	47938591	C	A	47938591	3	1	50	1	0	0	0	0	1	0	0	0	3596	506	18	5	156	5	CNGA1	4	47938591	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	61424	47938591	143215685	47	40649											
C4orf35	85438	broad.mit.edu	37	chr4	71200978	71200978	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagctaaaaaggaaaaActcaaatcagaagatgatat	7	6	2	4			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:71200978A>C	uc003hff.2	+	1	308	c.222A>C	c.(220-222)AAA>AAC	p.K74N		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	74						flagellum	calcium ion binding				0		all_hematologic(202;0.196)				AAAAGGAAAAACTCAAATCAG	0.368													C	71200978	A	C	71200978	3	2	50	1	0	0	0	0	1	0	0	0	2265	40	2	5	224	5	C4orf35	4	71200978	Missense_Mutation	SNP	A	TCGA-BR-7715-01A-11D-2053-08	23262387	71200978	119953298	48	40650											
RUFY3	22902	broad.mit.edu	37	chr4	71644141	71644141	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattagaaaaatccaacactAaactgacagaggaggtaagt	8	7	0	3			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:71644141A>G	uc003hfq.2	+	8	1475	c.880A>G	c.(880-882)AAA>GAA	p.K294E	RUFY3_uc003hfp.3_Missense_Mutation_p.K354E|RUFY3_uc011cax.1_Missense_Mutation_p.K312E|RUFY3_uc003hfr.2_Missense_Mutation_p.K294E|RUFY3_uc011cay.1_Missense_Mutation_p.K230E	NM_014961	NP_055776	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3 isoform 2	294	Potential.				negative regulation of axonogenesis	filopodium|growth cone					0		all_hematologic(202;0.248)	Lung(101;0.235)			ATCCAACACTAAACTGACAGA	0.299													G	71644141	A	G	71644141	3	3	50	1	0	0	0	0	1	0	0	0	13740	363	13	3	1272	3	RUFY3	4	71644141	Missense_Mutation	SNP	A	TCGA-BR-7715-01A-11D-2053-08	443163	71644141	119510135	49	40651											
CENPE	1062	broad.mit.edu	37	chr4	104065732	104065732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgagtctcattgacagctGtcatcttaagaaactgatat	7	9	3	4			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:104065732G>A	uc003hxb.1	-	33	4991	c.4901C>T	c.(4900-4902)ACA>ATA	p.T1634I	CENPE_uc003hxc.1_Missense_Mutation_p.T1609I	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	1634	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATTGACAGCTGTCATCTTAAG	0.333													A	104065732	G	A	104065732	3	1	50	1	0	0	0	0	1	0	0	0	3230	1377	48	4	3272	4	CENPE	4	104065732	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	32421591	104065732	87088544	50	40652											
INTS12	57117	broad.mit.edu	37	chr4	106614632	106614632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatcaactccttcagtgatGtctgatttcatctataaaaa	4	8	5	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:106614632G>A	uc003hxw.2	-	5	579	c.321C>T	c.(319-321)GAC>GAT	p.D107D	INTS12_uc010ilr.2_Silent_p.D107D	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	integrator complex subunit 12	107					snRNA processing	integrator complex	protein binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		CTTCAGTGATGTCTGATTTCA	0.373													A	106614632	G	A	106614632	2	1	50	1	0	0	0	0	0	0	0	1	7777	1368	48	4		4	INTS12	4	106614632	Silent	SNP	G	TCGA-BR-7715-01A-11D-2053-08	2548900	106614632	84539644	51	40653											
CFI	3426	broad.mit.edu	37	chr4	110681428	110681428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaagtctttcaattacctGcacagccaacttcatcttcc	3	16	4	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:110681428G>A	uc003hzr.3	-	6	1089	c.881C>T	c.(880-882)GCA>GTA	p.A294V	CFI_uc003hzq.2_Missense_Mutation_p.A91V|CFI_uc011cft.1_Missense_Mutation_p.A294V|CFI_uc003hzs.3_Missense_Mutation_p.A294V	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	294	LDL-receptor class A 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TCAATTACCTGCACAGCCAAC	0.413													A	110681428	G	A	110681428	3	1	50	1	0	0	0	0	1	0	0	0	3289	1319	46	2	902	2	CFI	4	110681428	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	4066796	110681428	80472848	52	40654											
PITX2	5308	broad.mit.edu	37	chr4	111539783	111539783	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcccgaagccattcttgcatAgctcggcctgctggttgcgc	12	14	1	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:111539783A>T	uc003iad.2	-	5	1034	c.452T>A	c.(451-453)CTA>CAA	p.L151Q	PITX2_uc003iac.2_Missense_Mutation_p.L158Q|PITX2_uc003iae.2_Missense_Mutation_p.L105Q|PITX2_uc010iml.2_Missense_Mutation_p.L22Q|PITX2_uc003iaf.2_Missense_Mutation_p.L151Q	NM_153426	NP_700475	Q99697	PITX2_HUMAN	paired-like homeodomain transcription factor 2	151			L -> V (in RIEG1).		determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		ATTCTTGCATAGCTCGGCCTG	0.582													T	111539783	A	T	111539783	3	4	50	1	0	0	0	0	1	0	0	0	11955	420	15	5	505	5	PITX2	4	111539783	Missense_Mutation	SNP	A	TCGA-BR-7715-01A-11D-2053-08	858355	111539783	79614493	53	40655											
PCDH18	54510	broad.mit.edu	37	chr4	138451501	138451501	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgccgtattattacgcAatgcaggccctataaccaca	6	12	1	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:138451501A>C	uc003ihe.3	-	1	2129	c.1742T>G	c.(1741-1743)TTG>TGG	p.L581W	PCDH18_uc003ihf.3_Missense_Mutation_p.L574W|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.L361W|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	581	Extracellular (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					ATTATTACGCAATGCAGGCCC	0.463													C	138451501	A	C	138451501	3	2	50	1	0	0	0	0	1	0	0	0	11513	131	5	5	1681	5	PCDH18	4	138451501	Missense_Mutation	SNP	A	TCGA-BR-7715-01A-11D-2053-08	26911718	138451501	52702775	54	40656											
GRIA2	2891	broad.mit.edu	37	chr4	158224891	158224891	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaggagctctccttagcttGattgaatactatcaatggga	9	7	2	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:158224891G>T	uc003ipm.3	+	3	876	c.417G>T	c.(415-417)TTG>TTT	p.L139F	GRIA2_uc011cit.1_Missense_Mutation_p.L92F|GRIA2_uc003ipl.3_Missense_Mutation_p.L139F|GRIA2_uc003ipk.3_Missense_Mutation_p.L92F|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	139	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TCCTTAGCTTGATTGAATACT	0.458													T	158224891	G	T	158224891	3	4	50	1	0	0	0	0	1	0	0	0	6768	1281	45	5	427	5	GRIA2	4	158224891	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	19773390	158224891	32929385	55	40657											
FSTL5	56884	broad.mit.edu	37	chr4	162459350	162459350	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagagtcttccacaaaaagaGaagagatgtcttcatccact	7	10	3	3			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:162459350G>A	uc003iqh.2	-	10	1716	c.1280C>T	c.(1279-1281)TCT>TTT	p.S427F	FSTL5_uc003iqi.2_Missense_Mutation_p.S426F|FSTL5_uc010iqv.2_Missense_Mutation_p.S426F	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	427						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CACAAAAAGAGAAGAGATGTC	0.408													A	162459350	G	A	162459350	3	1	50	1	0	0	0	0	1	0	0	0	6080	942	33	4	1291	4	FSTL5	4	162459350	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	4234459	162459350	28694926	56	40658											
IRF2	3660	broad.mit.edu	37	chr4	185340650	185340650	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gattgcccagtttctaaagaGtggtgcatctttttccacat	8	9	2	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:185340650G>C	uc003iwf.3	-	3	360	c.160C>G	c.(160-162)CTC>GTC	p.L54V		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	54	IRF tryptophan pentad repeat.				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TTTCTAAAGAGTGGTGCATCT	0.378													C	185340650	G	C	185340650	3	2	50	1	0	0	0	0	1	0	0	0	7828	1029	36	5	917	5	IRF2	4	185340650	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	22881300	185340650	5813626	57	40659											
IRX2	153572	broad.mit.edu	37	chr5	2749523	2749523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgccgaggtctccgtgcCctcctgcgccttgtcgggac	12	17	2	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr5:2749523C>T	uc003jda.2	-	2	870	c.628G>A	c.(628-630)GGC>AGC	p.G210S	C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Missense_Mutation_p.G210S	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	210						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		GTCTCCGTGCCCTCCTGCGCC	0.662													T	2749523	C	T	2749523	3	4	50	1	0	0	0	0	1	0	0	0	7844	623	22	4	799	4	IRX2	5	2749523	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08		2749523	178165737	58	40660											
KIAA0947	23379	broad.mit.edu	37	chr5	5457596	5457596	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggactttttatgtcaaaaTgtggaaaaacagagctccag	10	6	1	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr5:5457596T>G	uc003jdm.3	+	12	1065	c.843T>G	c.(841-843)AAT>AAG	p.N281K		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	281										ovary(1)|central_nervous_system(1)	2						TATGTCAAAATGTGGAAAAAC	0.433													G	5457596	T	G	5457596	3	3	50	1	0	0	0	0	1	0	0	0	8202	1461	51	5	889	5	KIAA0947	5	5457596	Missense_Mutation	SNP	T	TCGA-BR-7715-01A-11D-2053-08	2708073	5457596	175457664	59	40661											
ROPN1L	83853	broad.mit.edu	37	chr5	10450088	10450088	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accacaagcggtatgtggaaTtaacagatcttgagcagaag	11	7	1	3			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr5:10450088T>C	uc003jex.3	+	3	551	c.280T>C	c.(280-282)TTA>CTA	p.L94L		NM_031916	NP_114122	Q96C74	ROP1L_HUMAN	ropporin 1-like	94					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			ovary(1)	1						GTATGTGGAATTAACAGATCT	0.388													C	10450088	T	C	10450088	2	2	50	1	0	0	0	0	0	0	0	1	13525	1490	52	3		3	ROPN1L	5	10450088	Silent	SNP	T	TCGA-BR-7715-01A-11D-2053-08	4992492	10450088	170465172	60	40662											
PDZD2	23037	broad.mit.edu	37	chr5	32000337	32000337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcagtggccattcttcGctccgccacgggaatggtgc	14	12	1	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr5:32000337G>A	uc003jhl.2	+	5	1602	c.1214G>A	c.(1213-1215)CGC>CAC	p.R405H	PDZD2_uc003jhm.2_Missense_Mutation_p.R405H|PDZD2_uc011cnx.1_Missense_Mutation_p.R231H	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	405	PDZ 2.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GCCATTCTTCGCTCCGCCACG	0.552													A	32000337	G	A	32000337	3	1	50	1	0	0	0	0	1	0	0	0	11701	1087	38	1	1228	1	PDZD2	5	32000337	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	21550249	32000337	148914923	61	40663											
PCDHGB3	56102	broad.mit.edu	37	chr5	140752135	140752135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagacccgccactgaggGctactttcagcctggtgtct	10	15	2	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr5:140752135G>A	uc003ljw.1	+	1	2174	c.2174G>A	c.(2173-2175)GGC>GAC	p.G725D	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.G725D|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	725	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACTGAGGGCTACTTTCAG	0.562													A	140752135	G	A	140752135	3	1	50	1	0	0	0	0	1	0	0	0	11564	1203	42	2	2176	2	PCDHGB3	5	140752135	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	108751798	140752135	40163125	62	40664											
CSNK1A1	1452	broad.mit.edu	37	chr5	148891431	148891431	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatgattccatgtcatctcGgcgactagaaaagagaacgt	9	8	2	3			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr5:148891431G>A	uc003lqx.1	-	6	1081	c.601C>T	c.(601-603)CGA>TGA	p.R201*	CSNK1A1_uc011dcb.1_Nonsense_Mutation_p.R110*|CSNK1A1_uc011dcc.1_Nonsense_Mutation_p.R140*|CSNK1A1_uc003lqv.1_Nonsense_Mutation_p.R112*|CSNK1A1_uc003lqw.1_Nonsense_Mutation_p.R229*|CSNK1A1_uc003lqy.1_Nonsense_Mutation_p.R201*|CSNK1A1_uc010jha.1_Nonsense_Mutation_p.R201*	NM_001892	NP_001883	P48729	KC1A_HUMAN	casein kinase 1, alpha 1 isoform 2	201	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein binding|protein serine/threonine kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		ATGTCATCTCGGCGACTAGAA	0.348													A	148891431	G	A	148891431	4	1	50	1	0	0	0	0	0	1	0	0	3950	1124	39	1	432	1	CSNK1A1	5	148891431	Nonsense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	8139296	148891431	32023829	63	40665											
RFX6	222546	broad.mit.edu	37	chr6	117239221	117239221	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcttacagatgtactcattCctgcaacaatgcaagaaatg	6	9	2	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr6:117239221C>A	uc003pxm.2	+	10	1057	c.994C>A	c.(994-996)CCT>ACT	p.P332T		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	332					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						TGTACTCATTCCTGCAACAAT	0.289													A	117239221	C	A	117239221	3	1	50	1	0	0	0	0	1	0	0	0	13267	855	30	5	1032	5	RFX6	6	117239221	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08		117239221	53875846	64	40666											
C6orf174	387104	broad.mit.edu	37	chr6	127836053	127836053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttttgcgctcggctttgCggaggcggtactgcaggatc	15	11	0	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr6:127836053C>T	uc003qbd.2	-	3	2106	c.1241G>A	c.(1240-1242)CGC>CAC	p.R414H		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	414	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		CTCGGCTTTGCGGAGGCGGTA	0.622													T	127836053	C	T	127836053	3	4	50	1	0	0	0	0	1	0	0	0	2345	768	27	1	1622	1	C6orf174	6	127836053	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	10596832	127836053	43279014	65	40667											
SYNE1	23345	broad.mit.edu	37	chr6	152671444	152671444	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtcttcatggtctttgacTttcgcctccagactgaagac	8	11	3	4			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr6:152671444T>G	uc010kiw.2	-	72	12362	c.11760A>C	c.(11758-11760)AAA>AAC	p.K3920N	SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Missense_Mutation_p.K3920N|SYNE1_uc010kja.1_Missense_Mutation_p.K625N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3920	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)		GGTCTTTGACTTTCGCCTCCA	0.463										HNSCC(10;0.0054)			G	152671444	T	G	152671444	3	3	50	1	0	0	0	0	1	0	0	0	15442	1606	56	5	15006	5	SYNE1	6	152671444	Missense_Mutation	SNP	T	TCGA-BR-7715-01A-11D-2053-08	24835391	152671444	18443623	66	40668											
PDE10A	10846	broad.mit.edu	37	chr6	165989936	165989936	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcctctcttctatcctcaTtctacattcttttccttcaa	0	14	6	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr6:165989936T>C	uc003qun.2	-	2	242	c.1A>G	c.(1-3)ATG>GTG	p.M1V	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_5'UTR|PDE10A_uc003quo.2_Intron	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	1					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	tctatcctcattctacattct	0													C	165989936	T	C	165989936	3	2	50	1	0	0	0	0	1	0	0	0	11630	1493	52	3	2426	3	PDE10A	6	165989936	Missense_Mutation	SNP	T	TCGA-BR-7715-01A-11D-2053-08	13318492	165989936	5125131	67	40669											
SDK1	221935	broad.mit.edu	37	chr7	4116774	4116774	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccgctgtgactgccgtggGcactggcctggtgacttcat	15	12	1	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr7:4116774G>T	uc003smx.2	+	21	3294	c.3155G>T	c.(3154-3156)GGC>GTC	p.G1052V	SDK1_uc010kso.2_Missense_Mutation_p.G328V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1052	Fibronectin type-III 4.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACTGCCGTGGGCACTGGCCTG	0.577													T	4116774	G	T	4116774	3	4	50	1	0	0	0	0	1	0	0	0	13968	1203	42	5	3237	5	SDK1	7	4116774	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08		4116774	155021889	68	40670											
HOXA4	3201	broad.mit.edu	37	chr7	27169073	27169073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgtgggcgatctcgatgCggcgccgccgggtcaggtat	18	11	2	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr7:27169073C>T	uc003sym.3	-	2	781	c.734G>A	c.(733-735)CGC>CAC	p.R245H	HOXA3_uc003syk.2_5'Flank	NM_002141	NP_002132	Q00056	HXA4_HUMAN	homeobox A4	245	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						GATCTCGATGCGGCGCCGCCG	0.587													T	27169073	C	T	27169073	3	4	50	1	0	0	0	0	1	0	0	0	7294	768	27	1	232	1	HOXA4	7	27169073	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	23052299	27169073	131969590	69	40671											
GHRHR	2692	broad.mit.edu	37	chr7	31011683	31011683	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcccttttccacagcgaCgacactgaccactgcagctt	8	16	0	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr7:31011683C>T	uc003tbx.2	+	6	618	c.570C>T	c.(568-570)GAC>GAT	p.D190D	GHRHR_uc003tbw.1_Silent_p.D190D|GHRHR_uc003tby.2_Silent_p.D126D|GHRHR_uc003tbz.2_Missense_Mutation_p.T8M	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	190	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			ovary(2)|lung(1)|breast(1)|large_intestine(1)	5					Sermorelin(DB00010)	TCCACAGCGACGACACTGACC	0.582													T	31011683	C	T	31011683	2	4	50	1	0	0	0	0	0	0	0	1	6373	535	19	1		1	GHRHR	7	31011683	Silent	SNP	C	TCGA-BR-7715-01A-11D-2053-08	3842610	31011683	128126980	70	40672											
GLI3	2737	broad.mit.edu	37	chr7	42006103	42006103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcggctgctcaggtaggcCgagctgatggtgctggcgct	18	11	1	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr7:42006103C>T	uc011kbh.1	-	15	2659	c.2568G>A	c.(2566-2568)TCG>TCA	p.S856S	GLI3_uc011kbg.1_Silent_p.S797S	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	856				S->A: Loss of proteolytic processing.	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						TCAGGTAGGCCGAGCTGATGG	0.662									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42006103	C	T	42006103	2	4	50	1	0	0	0	0	0	0	0	1	6439	639	23	1		1	GLI3	7	42006103	Silent	SNP	C	TCGA-BR-7715-01A-11D-2053-08	10994420	42006103	117132560	71	40673											
EGFR	1956	broad.mit.edu	37	chr7	55232990	55232990	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagggaccagacaactgtatCcagtgtgcccactacattga	9	12	0	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr7:55232990C>A	uc003tqk.2	+	15	1986	c.1740C>A	c.(1738-1740)ATC>ATA	p.I580I	EGFR_uc003tqi.2_Silent_p.I580I|EGFR_uc003tqj.2_Silent_p.I580I|EGFR_uc010kzg.1_Silent_p.I535I|EGFR_uc011kco.1_Silent_p.I527I|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	580	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ACAACTGTATCCAGTGTGCCC	0.478		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55232990	C	A	55232990	2	1	50	1	0	0	0	0	0	0	0	1	4967	845	30	5		5	EGFR	7	55232990	Silent	SNP	C	TCGA-BR-7715-01A-11D-2053-08	13226887	55232990	103905673	72	40674											
POM121C	100101267	broad.mit.edu	37	chr7	75068500	75068500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactgccactgctatcatggCgcctgcgacaaatcaaaaaa	7	13	2	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr7:75068500C>A	uc010lde.1	-	4	956	c.956G>T	c.(955-957)CGC>CTC	p.R319L	POM121C_uc003udk.3_Missense_Mutation_p.R77L			A8CG34	P121C_HUMAN	Homo sapiens POM121-2 mRNA for nuclear pore membrane protein 121-2, partial cds.	319	Required for targeting to the nucleus and nuclear pore complex.|Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding				0						GCTATCATGGCGCCTGCGACA	0.453													A	75068500	C	A	75068500	3	1	50	1	0	0	0	0	1	0	0	0	12240	768	27	5	2773	5	POM121C	7	75068500	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	19835510	75068500	84070163	73	40675											
DBF4	10926	broad.mit.edu	37	chr7	87506063	87506063	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccatgaactccggagccAtgaggatccacagtaaagga	11	11	0	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr7:87506063A>C	uc003ujf.1	+	1	520	c.16A>C	c.(16-18)ATG>CTG	p.M6L	SLC25A40_uc003uje.2_5'Flank|DBF4_uc003ujh.1_5'UTR|DBF4_uc003ujg.1_5'UTR|DBF4_uc011khf.1_5'UTR	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	6					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CTCCGGAGCCATGAGGATCCA	0.597													C	87506063	A	C	87506063	3	2	50	1	0	0	0	0	1	0	0	0	4248	217	8	5	18	5	DBF4	7	87506063	Missense_Mutation	SNP	A	TCGA-BR-7715-01A-11D-2053-08	12437563	87506063	71632600	74	40676											
SLC26A5	375611	broad.mit.edu	37	chr7	103033484	103033484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtacacaaggtggaagaggCtggtgtccggattggctgga	17	7	0	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr7:103033484C>T	uc003vbz.2	-	10	1237	c.1001G>A	c.(1000-1002)AGC>AAC	p.S334N	SLC26A5_uc003vbt.1_Missense_Mutation_p.S334N|SLC26A5_uc003vbu.1_Missense_Mutation_p.S334N|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_Intron|SLC26A5_uc003vbx.2_Missense_Mutation_p.S334N|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	334	Extracellular (Potential).				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						GTGGAAGAGGCTGGTGTCCGG	0.478													T	103033484	C	T	103033484	3	4	50	1	0	0	0	0	1	0	0	0	14520	797	28	2	1318	2	SLC26A5	7	103033484	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	15527421	103033484	56105179	75	40677											
RELN	5649	broad.mit.edu	37	chr7	103131143	103131143	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacatggtcaggcagctggaTggtgattcttttccagcttg	13	8	2	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr7:103131143T>C	uc003vca.2	-	59	9737	c.9577A>G	c.(9577-9579)ATC>GTC	p.I3193V	RELN_uc010liz.2_Missense_Mutation_p.I3193V	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3193					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGCAGCTGGATGGTGATTCTT	0.463													C	103131143	T	C	103131143	3	2	50	1	0	0	0	0	1	0	0	0	13220	1464	51	3	833	3	RELN	7	103131143	Missense_Mutation	SNP	T	TCGA-BR-7715-01A-11D-2053-08	97659	103131143	56007520	76	40678											
UBN2	254048	broad.mit.edu	37	chr7	138944087	138944087	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaaggggaaaaggagaagaaGccaaggaaaaaagttcccaa	13	5	0	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr7:138944087G>C	uc011kqr.1	+	5	876	c.876G>C	c.(874-876)AAG>AAC	p.K292N	UBN2_uc003vuv.2_Missense_Mutation_p.K15N	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	292	Lys-rich.									ovary(1)|skin(1)	2						AGGAGAAGAAGCCAAGGAAAA	0.403													C	138944087	G	C	138944087	3	2	50	1	0	0	0	0	1	0	0	0	16890	962	34	5	894	5	UBN2	7	138944087	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	35812944	138944087	20194576	77	40679											
OR9A2	135924	broad.mit.edu	37	chr7	142723590	142723590	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtaggtgtaggagacaatCgtagggatcaaagaaccaat	12	5	1	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr7:142723590C>T	uc003wcc.1	-	1	630	c.630G>A	c.(628-630)ACG>ACA	p.T210T		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A,	210	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	Melanoma(164;0.059)					AGGAGACAATCGTAGGGATCA	0.468													T	142723590	C	T	142723590	2	4	50	1	0	0	0	0	0	0	0	1	11248	871	31	1		1	OR9A2	7	142723590	Silent	SNP	C	TCGA-BR-7715-01A-11D-2053-08	3779503	142723590	16415073	78	40680											
ASH2L	9070	broad.mit.edu	37	chr8	37978477	37978477	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgttttctgctcagcgcctTccccctcatggctacccatt	6	16	3	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr8:37978477T>C	uc003xkt.3	+	10	1033	c.975T>C	c.(973-975)CTT>CTC	p.L325L	ASH2L_uc011lbk.1_Silent_p.L186L|ASH2L_uc003xku.3_Silent_p.L231L|ASH2L_uc010lwa.2_Silent_p.L231L	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	ash2-like isoform a	325					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CTCAGCGCCTTCCCCCTCATG	0.468											OREG0018719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	37978477	T	C	37978477	2	2	50	1	0	0	0	0	0	0	0	1	1042	1770	62	3		3	ASH2L	8	37978477	Silent	SNP	T	TCGA-BR-7715-01A-11D-2053-08		37978477	108385545	79	40681											
CA3	761	broad.mit.edu	37	chr8	86352125	86352125	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagttgtatttgatgatacTtatgataggtcaagtaagta	10	3	1	3			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr8:86352125T>G	uc003ydj.2	+	2	302	c.219T>G	c.(217-219)ACT>ACG	p.T73T	CA13_uc003ydf.1_RNA|CA3_uc011lfv.1_RNA	NM_005181	NP_005172	P07451	CAH3_HUMAN	carbonic anhydrase III	73					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0						TTGATGATACTTATGATAGGT	0.408													G	86352125	T	G	86352125	2	3	50	1	0	0	0	0	0	0	0	1	2517	1596	56	5		5	CA3	8	86352125	Silent	SNP	T	TCGA-BR-7715-01A-11D-2053-08	48373648	86352125	60011897	80	40682											
OSGIN2	734	broad.mit.edu	37	chr8	90937164	90937164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatccagtgttaattgtaGgttctgggcttactgccgct	12	8	1	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr8:90937164G>A	uc003yeg.2	+	6	1268	c.922G>A	c.(922-924)GGT>AGT	p.G308S	OSGIN2_uc003yeh.2_Missense_Mutation_p.G352S	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family	308					germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GTTAATTGTAGGTTCTGGGCT	0.428													A	90937164	G	A	90937164	3	1	50	1	0	0	0	0	1	0	0	0	11290	1000	35	4	1076	4	OSGIN2	8	90937164	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	4585039	90937164	55426858	81	40683											
INTS8	55656	broad.mit.edu	37	chr8	95866100	95866108	+	In_Frame_Del	DEL	TTTATATTC	TTTATATTC	-													caatttaacaagagatttggTttatattcttatggccaaag							TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr8:95866099_95866107GTTTATATTC>G	uc003yhb.3	+	13	1834_1842	c.1708_1716GTTTATATTC>G	c.(1708-1716)gtttatatt>G	p.VYI570del	INTS8_uc003yha.1_In_Frame_Del_p.VYI570del|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_In_Frame_Del_p.VYI397del	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	570					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AAGAGATTTGGTTTATATTCTTATGGCCA	0.354													-	95866108	TTTATATTC	-	95866100	7	5	50	1	0	1	0	1	0	0	0	0	7784	1725	60	0	1763	0	INTS8	8	95866100	In_Frame_Del	DEL	TTTATATTC	TCGA-BR-7715-01A-11D-2053-08	4928936	95866100	50497922	82	40684											
TRPS1	7227	broad.mit.edu	37	chr8	116426744	116426744	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattcccaggaacggagagcTtatatttactccagaaccgc	9	11	0	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr8:116426744T>C	uc003ynz.2	-	6	3812	c.3353A>G	c.(3352-3354)AAG>AGG	p.K1118R	TRPS1_uc011lhy.1_Missense_Mutation_p.K1122R|TRPS1_uc003yny.2_Missense_Mutation_p.K1131R|TRPS1_uc010mcy.2_Missense_Mutation_p.K1118R	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1118	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AACGGAGAGCTTATATTTACT	0.473									Langer-Giedion_syndrome				C	116426744	T	C	116426744	3	2	50	1	0	0	0	0	1	0	0	0	16590	1609	56	3	496	3	TRPS1	8	116426744	Missense_Mutation	SNP	T	TCGA-BR-7715-01A-11D-2053-08	20560644	116426744	29937278	83	40685											
RNF139	11236	broad.mit.edu	37	chr8	125499257	125499257	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctataatgtcctctgggaaaAgcttgacgattatgtctact	8	8	2	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr8:125499257A>T	uc003yrc.2	+	2	1710	c.1367A>T	c.(1366-1368)AAG>ATG	p.K456M		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	456					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTCTGGGAAAAGCTTGACGAT	0.348									Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3				T	125499257	A	T	125499257	3	4	50	1	0	0	0	0	1	0	0	0	13442	72	3	5	1373	5	RNF139	8	125499257	Missense_Mutation	SNP	A	TCGA-BR-7715-01A-11D-2053-08	9072513	125499257	20864765	84	40686											
SVEP1	79987	broad.mit.edu	37	chr9	113192672	113192672	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acttcggcacctactgtataAatctcacctgaggagtggcc	9	12	1	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr9:113192672A>C	uc010mtz.2	-	33	5749	c.5412T>G	c.(5410-5412)ATT>ATG	p.I1804M	SVEP1_uc010mty.2_5'Flank	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1804	Sushi 7.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CTACTGTATAAATCTCACCTG	0.423													C	113192672	A	C	113192672	3	2	50	1	0	0	0	0	1	0	0	0	15417	10	1	5	5367	5	SVEP1	9	113192672	Missense_Mutation	SNP	A	TCGA-BR-7715-01A-11D-2053-08		113192672	28020759	85	40687											
AKNA	80709	broad.mit.edu	37	chr9	117143453	117143453	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcggaagtcctctaggagcTcggggctggtggcattggga	19	8	1	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr9:117143453T>C	uc004biq.3	-	1	296	c.161A>G	c.(160-162)GAG>GGG	p.E54G	AKNA_uc004bir.3_Missense_Mutation_p.E54G|AKNA_uc004bis.3_Missense_Mutation_p.E54G|AKNA_uc010mve.2_Intron|AKNA_uc004biu.1_5'UTR|AKNA_uc004biv.1_Missense_Mutation_p.E54G|AKNA_uc004biw.1_Missense_Mutation_p.E54G	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6						CTCTAGGAGCTCGGGGCTGGT	0.637													C	117143453	T	C	117143453	3	2	50	1	0	0	0	0	1	0	0	0	463	1551	54	3	4242	3	AKNA	9	117143453	Missense_Mutation	SNP	T	TCGA-BR-7715-01A-11D-2053-08	3950781	117143453	24069978	86	40688											
PSMD5	5711	broad.mit.edu	37	chr9	123583640	123583640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctacctacttactggtaagTacagaagagatgaaattgca	8	8	0	3			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr9:123583640T>C	uc004bko.2	-	8	1128	c.1109A>G	c.(1108-1110)TAC>TGC	p.Y370C	PSMD5_uc011lye.1_Missense_Mutation_p.Y327C	NM_005047	NP_005038	Q16401	PSMD5_HUMAN	proteasome 26S non-ATPase subunit 5	370					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding				0						TACTGGTAAGTACAGAAGAGA	0.363													C	123583640	T	C	123583640	3	2	50	1	0	0	0	0	1	0	0	0	12701	1638	57	3	417	3	PSMD5	9	123583640	Missense_Mutation	SNP	T	TCGA-BR-7715-01A-11D-2053-08	6440187	123583640	17629791	87	40689											
OR1L1	26737	broad.mit.edu	37	chr9	125423911	125423911	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttgctgataagaagaatAaaaggagaaattttggacag	10	3	1	4			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr9:125423911A>G	uc011lza.1	+	1	67	c.67A>G	c.(67-69)AAA>GAA	p.K23E		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L,	23	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						TAAGAAGAATAAAAGGAGAAA	0.279													G	125423911	A	G	125423911	3	3	50	1	0	0	0	0	1	0	0	0	10963	377	13	3		3	OR1L1	9	125423911	Missense_Mutation	SNP	A	TCGA-BR-7715-01A-11D-2053-08	1840271	125423911	15789520	88	40690											
C9orf171	389799	broad.mit.edu	37	chr9	135374980	135374980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacatgacatttgggatcCgggcacggtaaggtggctgg	15	8	0	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr9:135374980C>T	uc004cbn.2	+	4	673	c.625C>T	c.(625-627)CGG>TGG	p.R209W	C9orf171_uc004cbo.2_Missense_Mutation_p.R173W	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	hypothetical protein LOC389799	209										ovary(4)|large_intestine(1)	5						ATTTGGGATCCGGGCACGGTA	0.597													T	135374980	C	T	135374980	3	4	50	1	0	0	0	0	1	0	0	0	2470	643	23	1	639	1	C9orf171	9	135374980	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	9951069	135374980	5838451	89	40691											
CUBN	8029	broad.mit.edu	37	chr10	17026238	17026238	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgatctctgggtacacagtTgggctattctgggagagtgg	16	6	2	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr10:17026238T>C	uc001ioo.2	-	30	4443	c.4391A>G	c.(4390-4392)CAA>CGA	p.Q1464R		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1464	CUB 9.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTACACAGTTGGGCTATTCT	0.448													C	17026238	T	C	17026238	3	2	50	1	0	0	0	0	1	0	0	0	4051	1812	63	3	6632	3	CUBN	10	17026238	Missense_Mutation	SNP	T	TCGA-BR-7715-01A-11D-2053-08		17026238	118508509	90	40692											
ANKRD30A	91074	broad.mit.edu	37	chr10	37505290	37505290	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacagttagagaaccaaaaAgttaaatgggaacaagagct	9	6	1	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr10:37505290A>G	uc001iza.1	+	32	2982	c.2883A>G	c.(2881-2883)AAA>AAG	p.K961K		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1017	Potential.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						AGAACCAAAAAGTTAAATGGG	0.308													G	37505290	A	G	37505290	2	3	50	1	0	0	0	0	0	0	0	1	658	69	3	3		3	ANKRD30A	10	37505290	Silent	SNP	A	TCGA-BR-7715-01A-11D-2053-08	20479052	37505290	98029457	91	40693											
C10orf71	118461	broad.mit.edu	37	chr10	50532585	50532585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctacagagaaaatgaagacCcaccagctagagaatgggct	11	9	0	4			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr10:50532585C>T	uc010qgp.1	+	3	2334	c.1995C>T	c.(1993-1995)ACC>ACT	p.T665T		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	665											0						AAATGAAGACCCACCAGCTAG	0.532													T	50532585	C	T	50532585	2	4	50	1	0	0	0	0	0	0	0	1	1614	610	22	4		4	C10orf71	10	50532585	Silent	SNP	C	TCGA-BR-7715-01A-11D-2053-08	13027295	50532585	85002162	92	40694											
SMC3	9126	broad.mit.edu	37	chr10	112328746	112328746	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatcaaacaattgtagatccCttcagttcaaaacataatgt	5	8	3	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr10:112328746C>G	uc001kze.2	+	2	192	c.66C>G	c.(64-66)CCC>CCG	p.P22P		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	22					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TTGTAGATCCCTTCAGTTCAA	0.318													G	112328746	C	G	112328746	2	3	50	1	0	0	0	0	0	0	0	1	14784	668	24	5		5	SMC3	10	112328746	Silent	SNP	C	TCGA-BR-7715-01A-11D-2053-08	61796161	112328746	23206001	93	40695											
ADRB1	153	broad.mit.edu	37	chr10	115804636	115804636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgtacctgcgggtgttcCgcgaggcccagaagcaggtg	16	11	0	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr10:115804636C>T	uc001lba.2	+	1	831	c.745C>T	c.(745-747)CGC>TGC	p.R249C		NM_000684	NP_000675	P08588	ADRB1_HUMAN	beta-1-adrenergic receptor	249	Cytoplasmic (By similarity).				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	GCGGGTGTTCCGCGAGGCCCA	0.547													T	115804636	C	T	115804636	3	4	50	1	0	0	0	0	1	0	0	0	340	652	23	1	747	1	ADRB1	10	115804636	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	3475890	115804636	19730111	94	40696											
ABLIM1	3983	broad.mit.edu	37	chr10	116225532	116225532	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtacacaggggagttgaTggagccctggctcgtggacc	16	10	0	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr10:116225532T>C	uc010qsg.1	-	12	1465	c.1366A>G	c.(1366-1368)ATC>GTC	p.I456V	ABLIM1_uc010qsh.1_Missense_Mutation_p.I424V|ABLIM1_uc010qsi.1_Missense_Mutation_p.I396V|ABLIM1_uc010qsk.1_Missense_Mutation_p.I380V|ABLIM1_uc009xyp.2_Missense_Mutation_p.I418V|ABLIM1_uc010qsf.1_Missense_Mutation_p.I168V|ABLIM1_uc009xyn.2_Missense_Mutation_p.I107V|ABLIM1_uc010qsj.1_Missense_Mutation_p.I133V|ABLIM1_uc009xyo.2_Missense_Mutation_p.I304V	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	456					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GGGGAGTTGATGGAGCCCTGG	0.552													C	116225532	T	C	116225532	3	2	50	1	0	0	0	0	1	0	0	0	94	1464	51	3	1014	3	ABLIM1	10	116225532	Missense_Mutation	SNP	T	TCGA-BR-7715-01A-11D-2053-08	420896	116225532	19309215	95	40697											
KCNK18	338567	broad.mit.edu	37	chr10	118957007	118957007	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcagggacgatggaggTctcggggcacccccaggcca	15	13	2	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr10:118957007T>G	uc010qsr.1	+	1	8	c.8T>G	c.(7-9)GTC>GGC	p.V3G		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	3	Cytoplasmic (Potential).					integral to membrane|plasma membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;0.19)		all cancers(201;0.0211)		ACGATGGAGGTCTCGGGGCAC	0.637													G	118957007	T	G	118957007	3	3	50	1	0	0	0	0	1	0	0	0	8065	1667	58	5	10	5	KCNK18	10	118957007	Missense_Mutation	SNP	T	TCGA-BR-7715-01A-11D-2053-08	2731475	118957007	16577740	96	40698											
OR51F2	119694	broad.mit.edu	37	chr11	4842656	4842656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctcagtgcttccctatgtCggtcctcaataataccattg	6	12	2	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr11:4842656C>T	uc010qyn.1	+	1	41	c.41C>T	c.(40-42)TCG>TTG	p.S14L		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F,	14	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S14S(1)		ovary(1)|pancreas(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCCCTATGTCGGTCCTCAAT	0.438													T	4842656	C	T	4842656	3	4	50	1	0	0	0	0	1	0	0	0	11097	893	31	1	43	1	OR51F2	11	4842656	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08		4842656	130163860	97	40699											
TMEM86A	144110	broad.mit.edu	37	chr11	18722659	18722659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgctggcccaccccagCgccacccgcatctttgtggg	10	18	1	0	rs145862476		TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr11:18722659C>T	uc001moz.1	+	2	284	c.201C>T	c.(199-201)AGC>AGT	p.S67S		NM_153347	NP_699178	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	67						integral to membrane				ovary(1)	1						CCCACCCCAGCGCCACCCGCA	0.597													T	18722659	C	T	18722659	2	4	50	1	0	0	0	0	0	0	0	1	16205	767	27	1		1	TMEM86A	11	18722659	Silent	SNP	C	TCGA-BR-7715-01A-11D-2053-08	13880003	18722659	116283857	98	40700											
ARFGAP2	84364	broad.mit.edu	37	chr11	47198097	47198097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagatggacgcccagggagCggtgcaccccggaacagtca	14	13	2	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr11:47198097C>T	uc001ndt.2	-	2	176	c.161G>A	c.(160-162)CGC>CAC	p.R54H	ARFGAP2_uc010rha.1_5'Flank|ARFGAP2_uc010rhb.1_Missense_Mutation_p.R54H|ARFGAP2_uc001ndu.2_Missense_Mutation_p.R54H|ARFGAP2_uc010rhc.1_5'UTR|ARFGAP2_uc010rhd.1_Missense_Mutation_p.R54H|ARFGAP2_uc001ndv.1_Missense_Mutation_p.R54H	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating	54	Arf-GAP.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			ovary(1)	1						GCCCAGGGAGCGGTGCACCCC	0.632													T	47198097	C	T	47198097	3	4	50	1	0	0	0	0	1	0	0	0	850	768	27	1	1464	1	ARFGAP2	11	47198097	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	28475438	47198097	87808419	99	40701											
OR8H2	390151	broad.mit.edu	37	chr11	55873412	55873412	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttagaaacaaagaggtgaaAaatgctgtcatcagagtcat	9	6	3	4			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr11:55873412A>C	uc010riy.1	+	1	894	c.894A>C	c.(892-894)AAA>AAC	p.K298N		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	298	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	Esophageal squamous(21;0.00693)					AAGAGGTGAAAAATGCTGTCA	0.373										HNSCC(53;0.14)			C	55873412	A	C	55873412	3	2	50	1	0	0	0	0	1	0	0	0	11238	11	1	5	896	5	OR8H2	11	55873412	Missense_Mutation	SNP	A	TCGA-BR-7715-01A-11D-2053-08	8675315	55873412	79133104	100	40702											
SLC22A25	387601	broad.mit.edu	37	chr11	62933530	62933530	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcaccttgaggcacaaatAtgatggccagaaggcaggtt	11	9	1	3			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr11:62933530A>G	uc001nwr.1	-	7	1271	c.1271T>C	c.(1270-1272)ATA>ACA	p.I424T	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA|SLC22A25_uc001nwt.1_3'UTR	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	putative UST1-like organic anion transporter	424	Helical; Name=9; (Potential).				transmembrane transport	integral to membrane				ovary(3)|skin(1)	4						AGGCACAAATATGATGGCCAG	0.488													G	62933530	A	G	62933530	3	3	50	1	0	0	0	0	1	0	0	0	14454	449	16	3	384	3	SLC22A25	11	62933530	Missense_Mutation	SNP	A	TCGA-BR-7715-01A-11D-2053-08	7060118	62933530	72072986	101	40703											
PDGFD	80310	broad.mit.edu	37	chr11	103870925	103870925	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaggactctgcacgtagccGtttcctttcacctggatggt	10	12	2	0	rs148454316	byFrequency	TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr11:103870925G>A	uc001phq.2	-	2	555	c.183C>T	c.(181-183)AAC>AAT	p.N61N	PDGFD_uc001php.2_Silent_p.N55N	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	61	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GCACGTAGCCGTTTCCTTTCA	0.488													A	103870925	G	A	103870925	2	1	50	1	0	0	0	0	0	0	0	1	11660	1136	40	1		1	PDGFD	11	103870925	Silent	SNP	G	TCGA-BR-7715-01A-11D-2053-08	40937395	103870925	31135591	102	40704											
NLRX1	79671	broad.mit.edu	37	chr11	119052817	119052817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaggctgtccaacaaccCgctgacggcggcaggtgttg	14	12	0	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr11:119052817C>T	uc001pvu.2	+	9	2584	c.2369C>T	c.(2368-2370)CCG>CTG	p.P790L	NLRX1_uc001pvv.2_Missense_Mutation_p.P790L|NLRX1_uc001pvw.2_Missense_Mutation_p.P790L|NLRX1_uc001pvx.2_Missense_Mutation_p.P790L	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	790	Required for the repression of MAVS- induced interferon signaling.|LRR 4.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TCCAACAACCCGCTGACGGCG	0.622													T	119052817	C	T	119052817	3	4	50	1	0	0	0	0	1	0	0	0	10485	652	23	1	2399	1	NLRX1	11	119052817	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	15181892	119052817	15953699	103	40705											
ARHGEF12	23365	broad.mit.edu	37	chr11	120335951	120335951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattcttggcacagttcagCggaccaggagaggagaaatt	13	8	2	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr11:120335951C>T	uc001pxl.1	+	28	2626	c.2619C>T	c.(2617-2619)AGC>AGT	p.S873S	ARHGEF12_uc009zat.2_Silent_p.S854S|ARHGEF12_uc010rzn.1_Silent_p.S770S|ARHGEF12_uc009zau.1_Silent_p.S770S	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	873	DH.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CACAGTTCAGCGGACCAGGAG	0.423			T	MLL	AML								T	120335951	C	T	120335951	2	4	50	1	0	0	0	0	0	0	0	1	897	767	27	1		1	ARHGEF12	11	120335951	Silent	SNP	C	TCGA-BR-7715-01A-11D-2053-08	1283134	120335951	14670565	104	40706											
TULP3	7289	broad.mit.edu	37	chr12	3040238	3040238	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggttctgctactgccgcccaAccagctgataacctcctggg	10	15	1	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr12:3040238A>T	uc010seh.1	+	6	609	c.528A>T	c.(526-528)CAA>CAT	p.Q176H	TULP3_uc010sef.1_RNA|TULP3_uc009zec.1_5'UTR|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.Q176H|TULP3_uc010sei.1_Missense_Mutation_p.Q33H	NM_003324	NP_003315	O75386	TULP3_HUMAN	tubby like protein 3 isoform 1	176				TSGSATAAQPADNL -> IPVLLLPPNQLITF (in Ref. 1).	G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding				0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CTGCCGCCCAACCAGCTGATA	0.493													T	3040238	A	T	3040238	3	4	50	1	0	0	0	0	1	0	0	0	16772	40	2	5	550	5	TULP3	12	3040238	Missense_Mutation	SNP	A	TCGA-BR-7715-01A-11D-2053-08		3040238	130811657	105	40707											
VWF	7450	broad.mit.edu	37	chr12	6161886	6161886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccgggtaagagagagagCggcaggtcaggttgcagggg	19	7	1	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr12:6161886C>T	uc001qnn.1	-	16	2259	c.2009G>A	c.(2008-2010)CGC>CAC	p.R670H	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	670	TIL 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	AGAGAGAGAGCGGCAGGTCAG	0.617													T	6161886	C	T	6161886	3	4	50	1	0	0	0	0	1	0	0	0	17243	768	27	1	6580	1	VWF	12	6161886	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	3121648	6161886	127690009	106	40708											
ADAMTS20	80070	broad.mit.edu	37	chr12	43822058	43822058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttactgatccccatggtcCggttctccactggtttcctc	8	15	1	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr12:43822058C>T	uc010skx.1	-	26	3931	c.3931G>A	c.(3931-3933)GGA>AGA	p.G1311R	ADAMTS20_uc001rno.1_Missense_Mutation_p.G429R|ADAMTS20_uc001rnp.1_Missense_Mutation_p.G465R	NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1311	TSP type-1 9.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCCCATGGTCCGGTTCTCCAC	0.353													T	43822058	C	T	43822058	3	4	50	1	0	0	0	0	1	0	0	0	266	661	23	1	1856	1	ADAMTS20	12	43822058	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	37660172	43822058	90029837	107	40709											
IKZF4	64375	broad.mit.edu	37	chr12	56428541	56428541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaattgcatctcagaacTcacgcctgtcatcagctctg	6	15	5	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr12:56428541T>C	uc001sjb.1	+	9	1343	c.1184T>C	c.(1183-1185)CTC>CCC	p.L395P	IKZF4_uc010sqa.1_Missense_Mutation_p.L348P|IKZF4_uc001sjc.1_Missense_Mutation_p.L395P|IKZF4_uc001sjd.1_Missense_Mutation_p.L293P|IKZF4_uc009zoi.1_Missense_Mutation_p.L350P|IKZF4_uc001sje.1_Missense_Mutation_p.L354P	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	zinc finger protein, subfamily 1A, 4	395					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			ATCTCAGAACTCACGCCTGTC	0.602													C	56428541	T	C	56428541	3	2	50	1	0	0	0	0	1	0	0	0	7617	1551	54	3	1214	3	IKZF4	12	56428541	Missense_Mutation	SNP	T	TCGA-BR-7715-01A-11D-2053-08	12606483	56428541	77423354	108	40710											
AGAP2	116986	broad.mit.edu	37	chr12	58125727	58125727	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagggaagaagagtagtcGctagtgtggcccccgttact	16	8	0	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr12:58125727G>A	uc001spq.2	-	8	1818	c.1818C>T	c.(1816-1818)AGC>AGT	p.S606S	AGAP2_uc001spp.2_Silent_p.S606S|AGAP2_uc001spr.2_Silent_p.S270S	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	606					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5						AAGAGTAGTCGCTAGTGTGGC	0.597													A	58125727	G	A	58125727	2	1	50	1	0	0	0	0	0	0	0	1	368	1078	38	1		1	AGAP2	12	58125727	Silent	SNP	G	TCGA-BR-7715-01A-11D-2053-08	1697186	58125727	75726168	109	40711											
GRIP1	23426	broad.mit.edu	37	chr12	66742840	66742840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgtctccaaattaccacCgtggctaggctgctggaaaa	10	11	1	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr12:66742840C>T	uc001stk.2	-	24	3431	c.3190G>A	c.(3190-3192)GGT>AGT	p.G1064S	GRIP1_uc001stj.2_Missense_Mutation_p.G831S	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	1116					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AAATTACCACCGTGGCTAGGC	0.413													T	66742840	C	T	66742840	3	4	50	1	0	0	0	0	1	0	0	0	6787	652	23	1	44	1	GRIP1	12	66742840	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	8617113	66742840	67109055	110	40712											
LRRC10	376132	broad.mit.edu	37	chr12	70004268	70004268	+	Frame_Shift_Del	DEL	C	C	-													ctgaggttctggagcaggctCagctcactggggaggtcgca							TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr12:70004268delC	uc001svc.2	-	1	675	c.351delG	c.(349-351)CTGfs	p.L117fs		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	117	LRR 3.					nucleus					0	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGAGCAGGCTCAGCTCACTGG	0.572													-	70004268	C	-	70004268	7	5	50	1	0	1	0	1	0	0	0	0	8967	813	29	0	486	0	LRRC10	12	70004268	Frame_Shift_Del	DEL	C	TCGA-BR-7715-01A-11D-2053-08	3261428	70004268	63847627	111	40713											
XPO4	64328	broad.mit.edu	37	chr13	21357924	21357924	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctaaactctttaagaaggcCatcttctgcttccgatccag	6	12	4	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr13:21357924C>A	uc001unq.3	-	23	3429	c.3393G>T	c.(3391-3393)ATG>ATT	p.M1131I		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	1131					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TTAAGAAGGCCATCTTCTGCT	0.413													A	21357924	C	A	21357924	3	1	50	1	0	0	0	0	1	0	0	0	17443	594	21	5	66	5	XPO4	13	21357924	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08		21357924	93811954	112	40714											
OLFM4	10562	broad.mit.edu	37	chr13	53624159	53624159	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaccgtctgtggttcagctCaactggagagggttttctta	11	8	4	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr13:53624159C>T	uc001vhl.2	+	5	786	c.786C>T	c.(784-786)CTC>CTT	p.L262L	OLFM4_uc001vhk.1_Intron	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	olfactomedin 4 precursor	262	Olfactomedin-like.				cell adhesion	extracellular space				skin(1)	1		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TGGTTCAGCTCAACTGGAGAG	0.443													T	53624159	C	T	53624159	2	4	50	1	0	0	0	0	0	0	0	1	10855	813	29	4		4	OLFM4	13	53624159	Silent	SNP	C	TCGA-BR-7715-01A-11D-2053-08	32266235	53624159	61545719	113	40715											
F7	2155	broad.mit.edu	37	chr13	113761182	113761182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcgctaaggcctcaggaGgagaaacacgggacatgccg	16	10	1	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr13:113761182G>A	uc001vsv.2	+	2	139	c.88G>A	c.(88-90)GGA>AGA	p.G30R	F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	30					anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GGCCTCAGGAGGAGAAACACG	0.657													A	113761182	G	A	113761182	3	1	50	1	0	0	0	0	1	0	0	0	5349	1001	35	4	94	4	F7	13	113761182	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	60137023	113761182	1408696	114	40716											
CCNK	8812	broad.mit.edu	37	chr14	99967136	99967137	+	Frame_Shift_Del	DEL	CA	CA	-													ttctggagagaatcttactgCagaccatcaagtttgattta							TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr14:99967136_99967137delCA	uc001ygi.3	+	5	575_576	c.445_446delCA	c.(445-447)CAGfs	p.Q149fs	CCNK_uc001ygg.3_Frame_Shift_Del_p.Q149fs	NM_001099402	NP_001092872	O75909	CCNK_HUMAN	cyclin K isoform 1	149					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding				0		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				AATCTTACTGCAGACCATCAAG	0.347													-	99967137	CA	-	99967136	7	5	50	1	0	1	0	1	0	0	0	0	2930	711	25	0	459	0	CCNK	14	99967136	Frame_Shift_Del	DEL	CA	TCGA-BR-7715-01A-11D-2053-08		99967136	7382404	115	40717											
CYP46A1	10858	broad.mit.edu	37	chr14	100165870	100165870	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcgctccagactgtgtttgGtgagaggtaaggaggtatgg	17	5	0	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr14:100165870G>C	uc001ygo.2	+	4	350	c.350G>C	c.(349-351)GGT>GCT	p.G117A	CYP46A1_uc001ygn.1_Missense_Mutation_p.G79A	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46	117					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity				0		Melanoma(154;0.0866)|all_epithelial(191;0.179)				ACTGTGTTTGGTGAGAGGTAA	0.522													C	100165870	G	C	100165870	3	2	50	1	0	0	0	0	1	0	0	0	4182	1261	44	5	364	5	CYP46A1	14	100165870	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	198734	100165870	7183670	116	40718											
YY1	7528	broad.mit.edu	37	chr14	100743827	100743827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatgtgcgaatccataccGgagacaggccctatgtgtgc	11	12	0	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr14:100743827G>A	uc001ygy.1	+	5	1615	c.1135G>A	c.(1135-1137)GGA>AGA	p.G379R	uc001ygz.1_5'Flank	NM_003403	NP_003394	P25490	TYY1_HUMAN	YY1 transcription factor	379	Involved in masking transactivation domain.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding				0		Melanoma(154;0.152)				AATCCATACCGGAGACAGGCC	0.468													A	100743827	G	A	100743827	3	1	50	1	0	0	0	0	1	0	0	0	17504	1117	39	1	1153	1	YY1	14	100743827	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	577957	100743827	6605713	117	40719											
OR4M2	390538	broad.mit.edu	37	chr15	22369460	22369460	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacacattgagaaacaaggaAgtaaaggcagccatgaggaa	11	6	0	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr15:22369460A>G	uc010tzu.1	+	1	885	c.885A>G	c.(883-885)GAA>GAG	p.E295E	LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	295	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GAAACAAGGAAGTAAAGGCAG	0.353													G	22369460	A	G	22369460	2	3	50	1	0	0	0	0	0	0	0	1	11076	69	3	3		3	OR4M2	15	22369460	Silent	SNP	A	TCGA-BR-7715-01A-11D-2053-08		22369460	80161932	118	40720											
NDN	4692	broad.mit.edu	37	chr15	23931667	23931667	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaactcctcagtgatgagcTtccgcacgtccccgaaggtg	11	14	1	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr15:23931667T>G	uc001ywk.2	-	1	784	c.698A>C	c.(697-699)AAG>ACG	p.K233T		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	233	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGTGATGAGCTTCCGCACGTC	0.632									Prader-Willi_syndrome				G	23931667	T	G	23931667	3	3	50	1	0	0	0	0	1	0	0	0	10247	1609	56	5	271	5	NDN	15	23931667	Missense_Mutation	SNP	T	TCGA-BR-7715-01A-11D-2053-08	1562207	23931667	78599725	119	40721											
DUOX2	50506	broad.mit.edu	37	chr15	45386811	45386811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagggctcgaaggggggacGgccaaagtgggtgatggagc	21	6	0	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr15:45386811G>A	uc010bea.2	-	33	4677	c.4474C>T	c.(4474-4476)CGT>TGT	p.R1492C	DUOX2_uc001zun.2_Missense_Mutation_p.R1492C	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1492	Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AAGGGGGGACGGCCAAAGTGG	0.637													A	45386811	G	A	45386811	3	1	50	1	0	0	0	0	1	0	0	0	4801	1116	39	1	180	1	DUOX2	15	45386811	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	21455144	45386811	57144581	120	40722											
DTWD1	56986	broad.mit.edu	37	chr15	49924413	49924413	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaacagatggcaaaagtactGctatacatgcaaaactctta	6	8	1	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr15:49924413G>T	uc001zxq.2	+	4	599	c.322G>T	c.(322-324)GCT>TCT	p.A108S	DTWD1_uc001zxs.2_Missense_Mutation_p.A108S|DTWD1_uc001zxr.2_Missense_Mutation_p.A21S|DTWD1_uc001zxo.2_Missense_Mutation_p.A108S	NM_020234	NP_064619	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	108											0		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		CAAAAGTACTGCTATACATGC	0.219													T	49924413	G	T	49924413	3	4	50	1	0	0	0	0	1	0	0	0	4791	1319	46	5	328	5	DTWD1	15	49924413	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	4537602	49924413	52606979	121	40723											
SEMA7A	8482	broad.mit.edu	37	chr15	74709712	74709712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actggtgtacagctcactctCgccccggatgcggcggaacc	12	15	2	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr15:74709712C>T	uc002axv.2	-	6	665	c.625G>A	c.(625-627)GAG>AAG	p.E209K	SEMA7A_uc010ulk.1_Missense_Mutation_p.E44K|SEMA7A_uc010ull.1_Missense_Mutation_p.E195K	NM_003612	NP_003603	O75326	SEM7A_HUMAN	semaphorin 7A isoform 1 preproprotein	209	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(1)|central_nervous_system(1)	2						AGCTCACTCTCGCCCCGGATG	0.592													T	74709712	C	T	74709712	3	4	50	1	0	0	0	0	1	0	0	0	14043	893	31	1	1411	1	SEMA7A	15	74709712	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	24785299	74709712	27821680	122	40724											
IGFALS	3483	broad.mit.edu	37	chr16	1841399	1841399	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtctagcgtgagcacctcAagctgccccaggccctcaaa	10	15	3	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr16:1841399A>G	uc002cmy.2	-	2	1101	c.1020T>C	c.(1018-1020)CTT>CTC	p.L340L	IGFALS_uc010uvn.1_Silent_p.L378L|IGFALS_uc010uvo.1_5'UTR	NM_004970	NP_004961	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid	340	LRR 12.				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding				0						TGAGCACCTCAAGCTGCCCCA	0.642													G	1841399	A	G	1841399	2	3	50	1	0	0	0	0	0	0	0	1	7577	117	5	3		3	IGFALS	16	1841399	Silent	SNP	A	TCGA-BR-7715-01A-11D-2053-08		1841399	88513354	123	40725											
PKMYT1	9088	broad.mit.edu	37	chr16	3025809	3025809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggccgtcctccttggagCgcacctggaagggaggtggt	17	12	0	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr16:3025809C>T	uc002csn.2	-	4	826	c.383G>A	c.(382-384)CGC>CAC	p.R128H	PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Missense_Mutation_p.R128H|PKMYT1_uc002cso.2_Missense_Mutation_p.R59H|PKMYT1_uc002csp.2_Missense_Mutation_p.R119H|PKMYT1_uc002csq.2_Missense_Mutation_p.R119H|PKMYT1_uc010bsy.1_Missense_Mutation_p.R119H	NM_004203	NP_004194	Q99640	PMYT1_HUMAN	protein kinase Myt1 isoform 1	128	Protein kinase.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)	1						CTCCTTGGAGCGCACCTGGAA	0.627													T	3025809	C	T	3025809	3	4	50	1	0	0	0	0	1	0	0	0	11978	768	27	1	1178	1	PKMYT1	16	3025809	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	1184410	3025809	87328944	124	40726											
ABCC1	4363	broad.mit.edu	37	chr16	16225674	16225674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaatccaggagacagctcCgcccagcagctggccccagg	12	16	0	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr16:16225674C>T	uc010bvi.2	+	27	4023	c.3848C>T	c.(3847-3849)CCG>CTG	p.P1283L	ABCC1_uc010bvj.2_Missense_Mutation_p.P1224L|ABCC1_uc010bvk.2_Missense_Mutation_p.P1227L|ABCC1_uc010bvl.2_Missense_Mutation_p.P1283L|ABCC1_uc010bvm.2_Missense_Mutation_p.P1168L|ABCC1_uc002del.3_Missense_Mutation_p.P1177L	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1283	Cytoplasmic.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GAGACAGCTCCGCCCAGCAGC	0.587													T	16225674	C	T	16225674	3	4	50	1	0	0	0	0	1	0	0	0	49	652	23	1	3954	1	ABCC1	16	16225674	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	13199865	16225674	74129079	125	40727											
SBK1	388228	broad.mit.edu	37	chr16	28330503	28330503	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctggggacctgtttgaCatcatccctccccaggtact	9	15	1	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr16:28330503C>T	uc002dpd.2	+	3	1203	c.414C>T	c.(412-414)GAC>GAT	p.D138D		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	SH3-binding kinase 1	138	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|kidney(1)	2						ACCTGTTTGACATCATCCCTC	0.547													T	28330503	C	T	28330503	2	4	50	1	0	0	0	0	0	0	0	1	13860	477	17	4		4	SBK1	16	28330503	Silent	SNP	C	TCGA-BR-7715-01A-11D-2053-08	12104829	28330503	62024250	126	40728											
SETD1A	9739	broad.mit.edu	37	chr16	30976945	30976945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccatgctcttctggagaCgacatggagatctccgacga	10	12	4	2	rs146323096		TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr16:30976945C>T	uc002ead.1	+	8	2429	c.1743C>T	c.(1741-1743)GAC>GAT	p.D581D		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	581	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						CTTCTGGAGACGACATGGAGA	0.562													T	30976945	C	T	30976945	2	4	50	1	0	0	0	0	0	0	0	1	14130	535	19	1		1	SETD1A	16	30976945	Silent	SNP	C	TCGA-BR-7715-01A-11D-2053-08	2646442	30976945	59377808	127	40729											
TMCO7	79613	broad.mit.edu	37	chr16	68961816	68961816	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggagtcaatgagcccagcActactacaagtcagaaatct	8	10	3	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr16:68961816A>G	uc002ewi.3	+	13	2485	c.2473A>G	c.(2473-2475)ACT>GCT	p.T825A		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	825						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		TGAGCCCAGCACTACTACAAG	0.507													G	68961816	A	G	68961816	3	3	50	1	0	0	0	0	1	0	0	0	15998	159	6	3	2523	3	TMCO7	16	68961816	Missense_Mutation	SNP	A	TCGA-BR-7715-01A-11D-2053-08	37984871	68961816	21392937	128	40730											
TP53	7157	broad.mit.edu	37	chr17	7577129	7577129	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcacaaacacgcacctcaAagctgttccgtcccagtaga	8	14	1	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr17:7577129A>G	uc002gim.2	-	8	1003	c.809T>C	c.(808-810)TTT>TCT	p.F270S	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.F270S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.F138S|TP53_uc010cng.1_Missense_Mutation_p.F138S|TP53_uc002gii.1_Missense_Mutation_p.F138S|TP53_uc010cnh.1_Missense_Mutation_p.F270S|TP53_uc010cni.1_Missense_Mutation_p.F270S|TP53_uc002gij.2_Missense_Mutation_p.F270S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	270	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		F -> L (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).|F -> C (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.F270L(22)|p.F270C(15)|p.F270V(8)|p.0?(7)|p.F270S(7)|p.F270Y(5)|p.F270I(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.S269_F270insX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACGCACCTCAAAGCTGTTCCG	0.537		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			G	7577129	A	G	7577129	3	3	50	1	0	0	0	0	1	0	0	0	16378	14	1	3	477	3	TP53	17	7577129	Missense_Mutation	SNP	A	TCGA-BR-7715-01A-11D-2053-08		7577129	73618081	129	40731											
MYO15A	51168	broad.mit.edu	37	chr17	18065937	18065937	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagaacctgcagaaaaccTtgcgcttcggaggtcgtctg	12	11	1	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr17:18065937T>G	uc010vxh.1	+	57	9894	c.9556T>G	c.(9556-9558)TTG>GTG	p.L3186V	MYO15A_uc010vxi.1_Missense_Mutation_p.L450V|MYO15A_uc010vxk.1_5'UTR|MYO15A_uc010vxl.1_Missense_Mutation_p.L175V|MYO15A_uc002gsl.2_Missense_Mutation_p.L193V|MYO15A_uc010vxm.1_Missense_Mutation_p.L108V|MYO15A_uc002gsm.1_Missense_Mutation_p.L108V|MYO15A_uc010cpv.2_RNA	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	3186	Tail.|MyTH4 2.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					GCAGAAAACCTTGCGCTTCGG	0.582													G	18065937	T	G	18065937	3	3	50	1	0	0	0	0	1	0	0	0	10063	1606	56	5	9778	5	MYO15A	17	18065937	Missense_Mutation	SNP	T	TCGA-BR-7715-01A-11D-2053-08	10488808	18065937	63129273	130	40732											
NLK	51701	broad.mit.edu	37	chr17	26495496	26495496	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgtgattttggattggccaGagtggaagaattagatgaat	13	2	0	5			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr17:26495496G>A	uc010crj.2	+	6	1072	c.860G>A	c.(859-861)AGA>AAA	p.R287K	NLK_uc010cri.1_RNA	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	nemo like kinase	287	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GGATTGGCCAGAGTGGAAGAA	0.368													A	26495496	G	A	26495496	3	1	50	1	0	0	0	0	1	0	0	0	10466	942	33	4	882	4	NLK	17	26495496	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	8429559	26495496	54699714	131	40733											
PIGS	94005	broad.mit.edu	37	chr17	26888484	26888484	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcagcgctccacttgTcctctggaaggtggtcagcc	10	14	4	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr17:26888484T>G	uc002hbo.2	-	6	1005	c.632A>C	c.(631-633)GAC>GCC	p.D211A	PIGS_uc002hbn.2_Missense_Mutation_p.D203A|PIGS_uc010wap.1_Missense_Mutation_p.D150A	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	211	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(2)|urinary_tract(1)|kidney(1)	4	Lung NSC(42;0.00431)					GCTCCACTTGTCCTCTGGAAG	0.577													G	26888484	T	G	26888484	3	3	50	1	0	0	0	0	1	0	0	0	11898	1667	58	5	1063	5	PIGS	17	26888484	Missense_Mutation	SNP	T	TCGA-BR-7715-01A-11D-2053-08	392988	26888484	54306726	132	40734											
PNMT	5409	broad.mit.edu	37	chr17	37826527	37826527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgagggaggccctggtgcGtagtggctacaaggtccggg	20	8	0	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr17:37826527G>A	uc002hsi.1	+	3	956	c.734G>A	c.(733-735)CGT>CAT	p.R245H		NM_002686	NP_002677	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	245					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			ovary(1)	1	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCCCTGGTGCGTAGTGGCTAC	0.637													A	37826527	G	A	37826527	3	1	50	1	0	0	0	0	1	0	0	0	12159	1145	40	1	744	1	PNMT	17	37826527	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	10938043	37826527	43368683	133	40735											
KRT13	3860	broad.mit.edu	37	chr17	39661551	39661551	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaacaaagccaccagcaaaAcccccaccaaagccacctcc	3	20	1	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr17:39661551A>G	uc002hwu.1	-	1	315	c.252T>C	c.(250-252)GGT>GGC	p.G84G	KRT13_uc002hwv.1_Silent_p.G84G|KRT13_uc002hww.2_Intron|KRT13_uc010wfr.1_Intron|KRT13_uc010cxo.2_Silent_p.G84G|KRT13_uc002hwx.1_Silent_p.G72G	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	84	Gly-rich.|Head.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|skin(2)|pancreas(1)	5		Breast(137;0.000286)				caccagcaaaacccccaccaa	0.164													G	39661551	A	G	39661551	2	3	50	1	0	0	0	0	0	0	0	1	8450	30	2	3		3	KRT13	17	39661551	Silent	SNP	A	TCGA-BR-7715-01A-11D-2053-08	1835024	39661551	41533659	134	40736											
MPP3	4356	broad.mit.edu	37	chr17	41886367	41886367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctggggacataggtggcGtttttcttttttcctgaatt	11	6	1	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr17:41886367G>A	uc002iei.3	-	19	1704	c.1538C>T	c.(1537-1539)ACG>ATG	p.T513M	MPP3_uc002ieh.2_Missense_Mutation_p.T538M|MPP3_uc002iej.2_RNA	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	513	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CATAGGTGGCGTTTTTCTTTT	0.408													A	41886367	G	A	41886367	3	1	50	1	0	0	0	0	1	0	0	0	9735	1145	40	1	227	1	MPP3	17	41886367	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	2224816	41886367	39308843	135	40737											
FMNL1	752	broad.mit.edu	37	chr17	43318901	43318901	+	Frame_Shift_Del	DEL	G	G	-													atccgtattctgcgggggccGggggatgctgtctccatcga							TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr17:43318901delG	uc002iin.2	+	14	1685	c.1485delG	c.(1483-1485)CCGfs	p.P495fs	FMNL1_uc002iiq.2_Frame_Shift_Del_p.P73fs|FMNL1_uc010dag.2_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	495	Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						TGCGGGGGCCGGGGGATGCTG	0.697													-	43318901	G	-	43318901	7	5	50	1	0	1	0	1	0	0	0	0	5951	1103	39	0	1539	0	FMNL1	17	43318901	Frame_Shift_Del	DEL	G	TCGA-BR-7715-01A-11D-2053-08	1432534	43318901	37876309	136	40738											
ENPP7	339221	broad.mit.edu	37	chr17	77708918	77708918	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtgacgcggagccggaAagaaggcatcgcacacaact	14	11	0	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr17:77708918A>G	uc002jxa.2	+	3	496	c.476A>G	c.(475-477)AAA>AGA	p.K159R		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	159					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGGAGCCGGAAAGAAGGCATC	0.587													G	77708918	A	G	77708918	3	3	50	1	0	0	0	0	1	0	0	0	5135	14	1	3	486	3	ENPP7	17	77708918	Missense_Mutation	SNP	A	TCGA-BR-7715-01A-11D-2053-08	34390017	77708918	3486292	137	40739											
DLGAP1	9229	broad.mit.edu	37	chr18	3534395	3534395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatagaggggtcaaaatccGtgtcaaagtcatcatcggcg	12	8	4	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr18:3534395G>A	uc002kmf.2	-	7	2343	c.2276C>T	c.(2275-2277)ACG>ATG	p.T759M	DLGAP1_uc010wyz.1_Missense_Mutation_p.T759M|DLGAP1_uc002kme.1_Missense_Mutation_p.T457M|DLGAP1_uc010dkn.2_Missense_Mutation_p.T467M|DLGAP1_uc010wyw.1_Missense_Mutation_p.T465M|DLGAP1_uc010wyx.1_Missense_Mutation_p.T481M|DLGAP1_uc010wyy.1_Missense_Mutation_p.T443M|DLGAP1_uc002kmg.2_Missense_Mutation_p.T457M	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	759					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				GTCAAAATCCGTGTCAAAGTC	0.567													A	3534395	G	A	3534395	3	1	50	1	0	0	0	0	1	0	0	0	4559	1145	40	1	673	1	DLGAP1	18	3534395	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08		3534395	74542853	138	40740											
DCC	1630	broad.mit.edu	37	chr18	51013269	51013269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacccgcagttcactctccGgcctgtgccattcccaacac	6	20	2	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr18:51013269G>A	uc002lfe.1	+	26	4426	c.3839G>A	c.(3838-3840)CGG>CAG	p.R1280Q	DCC_uc010dpf.1_Missense_Mutation_p.R915Q	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1280	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTCACTCTCCGGCCTGTGCCA	0.532													A	51013269	G	A	51013269	3	1	50	1	0	0	0	0	1	0	0	0	4282	1116	39	1	3941	1	DCC	18	51013269	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	47478874	51013269	27063979	139	40741											
RDH8	50700	broad.mit.edu	37	chr19	10132337	10132337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatgtgcgaacgacccaccGcctcctcttccgctgtccac	8	18	1	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr19:10132337G>A	uc002mmr.2	+	6	1097	c.848G>A	c.(847-849)CGC>CAC	p.R283H		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	283					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(3)|pancreas(1)	4			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	ACGACCCACCGCCTCCTCTTC	0.632													A	10132337	G	A	10132337	3	1	50	1	0	0	0	0	1	0	0	0	13196	1087	38	1	870	1	RDH8	19	10132337	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08		10132337	48996646	140	40742											
EPHX3	79852	broad.mit.edu	37	chr19	15341777	15341777	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggactcccacacacaccttgGtacaccgacatgggggcacc	10	16	0	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr19:15341777G>T	uc002nap.2	-	4	821	c.612C>A	c.(610-612)TAC>TAA	p.Y204*	EPHX3_uc002naq.2_Nonsense_Mutation_p.Y204*	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	abhydrolase domain containing 9 precursor	204						extracellular region	hydrolase activity				0						ACACACCTTGGTACACCGACA	0.552													T	15341777	G	T	15341777	4	4	50	1	0	0	0	0	0	1	0	0	5181	1256	44	5	486	5	EPHX3	19	15341777	Nonsense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	5209440	15341777	43787206	141	40743											
CPAMD8	27151	broad.mit.edu	37	chr19	17014389	17014389	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgcatcaggcagcagccGtcccccttggcactcacaaa	8	17	2	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr19:17014389G>A	uc002nfb.2	-	34	4625	c.4593C>T	c.(4591-4593)GAC>GAT	p.D1531D	CPAMD8_uc002nfd.1_Translation_Start_Site	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1484						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						GGCAGCAGCCGTCCCCCTTGG	0.617													A	17014389	G	A	17014389	2	1	50	1	0	0	0	0	0	0	0	1	3795	1136	40	1		1	CPAMD8	19	17014389	Silent	SNP	G	TCGA-BR-7715-01A-11D-2053-08	1672612	17014389	42114594	142	40744											
CATSPERG	57828	broad.mit.edu	37	chr19	38851464	38851464	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaacagcacaccagccacTatgacttggagcggaaaggg	11	11	1	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr19:38851464T>C	uc002oih.3	+	16	1948	c.1861T>C	c.(1861-1863)TAT>CAT	p.Y621H	CATSPERG_uc002oig.3_Missense_Mutation_p.Y581H|CATSPERG_uc002oif.3_Missense_Mutation_p.Y261H|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	621	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						CACCAGCCACTATGACTTGGA	0.448													C	38851464	T	C	38851464	3	2	50	1	0	0	0	0	1	0	0	0	2692	1522	53	3	1919	3	CATSPERG	19	38851464	Missense_Mutation	SNP	T	TCGA-BR-7715-01A-11D-2053-08	21837075	38851464	20277519	143	40745											
ARHGEF1	9138	broad.mit.edu	37	chr19	42397364	42397364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacataccatctctaccgacGaagaaaagaggtgagggggg	14	8	1	3			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr19:42397364G>A	uc002orx.2	+	8	743	c.634G>A	c.(634-636)GAA>AAA	p.E212K	ARHGEF1_uc002orw.1_Missense_Mutation_p.E212K|ARHGEF1_uc002ory.2_Missense_Mutation_p.E179K|ARHGEF1_uc002orz.2_Missense_Mutation_p.E50K|ARHGEF1_uc002osa.2_Missense_Mutation_p.E227K|ARHGEF1_uc002osb.2_Missense_Mutation_p.E194K|ARHGEF1_uc002osc.2_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	212	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CTCTACCGACGAAGAAAAGAG	0.279													A	42397364	G	A	42397364	3	1	50	1	0	0	0	0	1	0	0	0	893	1059	37	1	709	1	ARHGEF1	19	42397364	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	3545900	42397364	16731619	144	40746											
MYBPC2	4606	broad.mit.edu	37	chr19	50958492	50958492	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctatgagatgcgtgtcttCgccgtcaatgctataggggt	12	9	3	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr19:50958492C>T	uc002psf.2	+	19	2193	c.2142C>T	c.(2140-2142)TTC>TTT	p.F714F		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	714	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGCGTGTCTTCGCCGTCAATG	0.493													T	50958492	C	T	50958492	2	4	50	1	0	0	0	0	0	0	0	1	10012	883	31	1		1	MYBPC2	19	50958492	Silent	SNP	C	TCGA-BR-7715-01A-11D-2053-08	8561128	50958492	8170491	145	40747											
NLRP8	126205	broad.mit.edu	37	chr19	56490859	56490859	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggacttgagcaagaatgcGattggagtctatggtattct	12	6	2	2	rs111647316		TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr19:56490859G>A	uc002qmh.2	+	9	3047	c.2976G>A	c.(2974-2976)GCG>GCA	p.A992A	NLRP8_uc010etg.2_Silent_p.A973A	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	992	LRR 6.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCAAGAATGCGATTGGAGTCT	0.498													A	56490859	G	A	56490859	2	1	50	1	0	0	0	0	0	0	0	1	10483	1045	37	1		1	NLRP8	19	56490859	Silent	SNP	G	TCGA-BR-7715-01A-11D-2053-08	5532367	56490859	2638124	146	40748											
CPXM1	56265	broad.mit.edu	37	chr20	2779456	2779456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtcaccagtggggtggggcGagttagagttagcttcttcc	15	8	2	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr20:2779456G>A	uc002wgu.2	-	2	320	c.256C>T	c.(256-258)CGC>TGC	p.R86C	CPXM1_uc010gas.2_Missense_Mutation_p.R86C	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	carboxypeptidase X, member 1 precursor	86					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)|skin(2)	4						GGGGTGGGGCGAGTTAGAGTT	0.567													A	2779456	G	A	2779456	3	1	50	1	0	0	0	0	1	0	0	0	3837	1058	37	1	2000	1	CPXM1	20	2779456	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08		2779456	60246064	147	40749											
JAG1	182	broad.mit.edu	37	chr20	10633188	10633188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattacagatgccgtggaCgcatcccgggtgtgggatgc	14	11	1	1	rs148990028	byFrequency	TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr20:10633188C>T	uc002wnw.2	-	6	1330	c.814G>A	c.(814-816)GTC>ATC	p.V272I	JAG1_uc010gcd.1_5'Flank	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	272	Extracellular (Potential).|EGF-like 2; atypical.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						ATGCCGTGGACGCATCCCGGG	0.587									Alagille_Syndrome				T	10633188	C	T	10633188	3	4	50	1	0	0	0	0	1	0	0	0	7934	536	19	1	2926	1	JAG1	20	10633188	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	7853732	10633188	52392332	148	40750											
SPTLC3	55304	broad.mit.edu	37	chr20	13140725	13140725	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagccactcccctcgcagaAgctcgggctcggttttgtgt	11	15	0	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr20:13140725A>C	uc002wod.1	+	11	1780	c.1491A>C	c.(1489-1491)GAA>GAC	p.E497D		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	497					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)	CCCTCGCAGAAGCTCGGGCTC	0.498													C	13140725	A	C	13140725	3	2	50	1	0	0	0	0	1	0	0	0	15124	69	3	5	1533	5	SPTLC3	20	13140725	Missense_Mutation	SNP	A	TCGA-BR-7715-01A-11D-2053-08	2507537	13140725	49884795	149	40751											
PLAGL2	5326	broad.mit.edu	37	chr20	30785006	30785006	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggctctgtcttgatcttgAgcagctcctgcgagtggctc	13	12	3	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr20:30785006A>C	uc002wxn.2	-	3	957	c.740T>G	c.(739-741)CTC>CGC	p.L247R		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	247						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTTGATCTTGAGCAGCTCCTG	0.577													C	30785006	A	C	30785006	3	2	50	1	0	0	0	0	1	0	0	0	12020	304	11	5	754	5	PLAGL2	20	30785006	Missense_Mutation	SNP	A	TCGA-BR-7715-01A-11D-2053-08	17644281	30785006	32240514	150	40752											
RBM12	10137	broad.mit.edu	37	chr20	34242522	34242539	+	In_Frame_Del	DEL	CATGGGTGGCAGTGGGGT	CATGGGTGGCAGTGGGGT	-													ttcaagggcggcatgcccgaCatgggtggcagtggggtcat							TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr20:34242521_34242538ACATGGGTGGCAGTGGGGT>A	uc021wcr.1	-	0	707_724	c.707_724ACCCCACTGCCACCCATGT>T	c.(706-726)accccactgccacccatgtcg>aTcg	p.236_242TPLPPMS>I	CPNE1_uc010zvj.2_5'Flank|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_In_Frame_Del_p.236_242TPLPPMS>I|RBM12_uc002xds.3_In_Frame_Del_p.236_242TPLPPMS>I|RBM12_uc002xdr.3_In_Frame_Del_p.236_242TPLPPMS>I|RBM12_uc021wcq.1_In_Frame_Del_p.236_242TPLPPMS>I	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	236	Pro-rich.					nucleus	RNA binding|nucleotide binding|protein binding	p.S242S(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGCATGCCCGACATGGGTGGCAGTGGGGTCATGGGTGG	0.555													-	34242539	CATGGGTGGCAGTGGGGT	-	34242522	7	5	50	1	0	1	0	1	0	0	0	0	13113	478	17	0	2079	0	RBM12	20	34242522	In_Frame_Del	DEL	CATGGGTGGCAGTGGGGT	TCGA-BR-7715-01A-11D-2053-08	3457516	34242522	28782998	151	40753											
GTSF1L	149699	broad.mit.edu	37	chr20	42355141	42355141	+	Frame_Shift_Del	DEL	T	T	-													cttcttccacagcgctcctgTtgacacaaacagcctcatgt							TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr20:42355140_42355140GT>G	uc002xld.3	-	0	503	c.195_195AC>C	c.(193-195)aacfs	p.N65fs	GTSF1L_uc002xlc.3_Frame_Shift_Del_p.N65fs	NM_176791	NP_789761	Q9H1H1	GTSFL_HUMAN	Homo sapiens gametocyte specific factor 1-like (GTSF1L), transcript variant 1, mRNA.	65							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGCGCTCCTGTTGACACAAA	0.527													-	42355141	T	-	42355141	7	5	50	1	0	1	0	1	0	0	0	0	6887	1725	60	0	256	0	GTSF1L	20	42355141	Frame_Shift_Del	DEL	T	TCGA-BR-7715-01A-11D-2053-08	8112619	42355141	20670379	152	40754											
CSE1L	1434	broad.mit.edu	37	chr20	47682762	47682762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaacaaaatttgtgaagccGatcgagtggccattaaagcc	9	9	0	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr20:47682762G>A	uc002xty.2	+	4	396	c.262G>A	c.(262-264)GAT>AAT	p.D88N	CSE1L_uc010zyg.1_Intron|CSE1L_uc010ghx.2_Missense_Mutation_p.D88N	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	88	Importin N-terminal.				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TTGTGAAGCCGATCGAGTGGC	0.418													A	47682762	G	A	47682762	3	1	50	1	0	0	0	0	1	0	0	0	3930	1058	37	1	272	1	CSE1L	20	47682762	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	5327621	47682762	15342758	153	40755											
MCM3AP	8888	broad.mit.edu	37	chr21	47695170	47695170	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgcatgtacctctccttcTcaggacacatatccaggcag	7	16	2	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr21:47695170T>G	uc002zir.1	-	6	1964	c.1928A>C	c.(1927-1929)GAG>GCG	p.E643A		NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	643					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					CCTCTCCTTCTCAGGACACAT	0.542													G	47695170	T	G	47695170	3	3	50	1	0	0	0	0	1	0	0	0	9388	1551	54	5	4106	5	MCM3AP	21	47695170	Missense_Mutation	SNP	T	TCGA-BR-7715-01A-11D-2053-08		47695170	434725	154	40756											
ZNF74	7625	broad.mit.edu	37	chr22	20760724	20760724	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcaccggcgcatccacagCggcgagaagcccttcaagtg	13	14	1	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr22:20760724C>T	uc010gsm.2	+	6	1613	c.1401C>T	c.(1399-1401)AGC>AGT	p.S467S	ZNF74_uc002zsg.2_Silent_p.S396S|ZNF74_uc002zsh.2_Silent_p.S467S|ZNF74_uc002zsi.2_Silent_p.S396S|ZNF74_uc010gsn.2_Silent_p.S396S	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	467					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCATCCACAGCGGCGAGAAGC	0.652													T	20760724	C	T	20760724	2	4	50	1	0	0	0	0	0	0	0	1	18124	767	27	1		1	ZNF74	22	20760724	Silent	SNP	C	TCGA-BR-7715-01A-11D-2053-08		20760724	30543842	155	40757											
SCARF2	91179	broad.mit.edu	37	chr22	20780319	20780319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggtttcctgcgctcgggCgatggcgacagcgacaggcc	17	13	0	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr22:20780319C>T	uc002zsj.1	-	11	2064	c.1959G>A	c.(1957-1959)TCG>TCA	p.S653S	SCARF2_uc002zsk.1_Silent_p.S648S	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2 isoform 1	648	Pro-rich.|Cytoplasmic (Potential).				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGCGCTCGGGCGATGGCGACA	0.627													T	20780319	C	T	20780319	2	4	50	1	0	0	0	0	0	0	0	1	13884	755	27	1		1	SCARF2	22	20780319	Silent	SNP	C	TCGA-BR-7715-01A-11D-2053-08	19595	20780319	30524247	156	40758											
SMTN	6525	broad.mit.edu	37	chr22	31486955	31486955	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttccttctagagtccaccCcccttgccagcggaccttcc	7	18	1	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr22:31486955C>A	uc003ajl.1	+	10	1164	c.946C>A	c.(946-948)CCC>ACC	p.P316T	SMTN_uc003ajk.1_Missense_Mutation_p.P316T|SMTN_uc003ajm.1_Missense_Mutation_p.P316T|SMTN_uc011ale.1_Missense_Mutation_p.P370T|SMTN_uc011alf.1_Missense_Mutation_p.P372T|SMTN_uc003ajn.1_Missense_Mutation_p.P308T|SMTN_uc011alg.1_5'UTR|SMTN_uc003ajo.1_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.1_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	316					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						AGAGTCCACCCCCCTTGCCAG	0.582													A	31486955	C	A	31486955	3	1	50	1	0	0	0	0	1	0	0	0	14814	623	22	5	980	5	SMTN	22	31486955	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	10706636	31486955	19817611	157	40759											
FAM9A	171482	broad.mit.edu	37	chrX	8761697	8761697	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgttaccaaatagaacagAcctttagtaattgctcaagt	6	7	1	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chrX:8761697A>G	uc004csg.2	-	8	1041	c.930_splice	c.e8+1	p.K310_splice		NM_174951	NP_777611	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A							nucleolus					0		Hepatocellular(5;0.219)				AATAGAACAGACCTTTAGTAA	0.378													G	8761697	A	G	8761697	5	3	50	1	0	0	0	0	0	0	1	0	5659	289	10	3	74	3	FAM9A	23	8761697	Splice_Site	SNP	A	TCGA-BR-7715-01A-11D-2053-08		8761697	146508863	158	40760											
MED12	9968	broad.mit.edu	37	chrX	70341241	70341241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttttgagaagatccgccCtggagaggatgaattgctta	13	6	0	4			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chrX:70341241C>T	uc004dyy.2	+	6	999	c.800C>T	c.(799-801)CCT>CTT	p.P267L	MED12_uc011mpq.1_Missense_Mutation_p.P267L|MED12_uc004dyz.2_Missense_Mutation_p.P267L|MED12_uc004dza.2_Missense_Mutation_p.P114L	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	267					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					AAGATCCGCCCTGGAGAGGAT	0.512													T	70341241	C	T	70341241	3	4	50	1	0	0	0	0	1	0	0	0	9428	681	24	4	822	4	MED12	23	70341241	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	61579544	70341241	84929319	159	40761											
MID2	11043	broad.mit.edu	37	chrX	107084451	107084451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgcctggtggaaccagtgCcagacacacatcttcgaggg	12	13	1	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chrX:107084451C>T	uc004enl.2	+	2	1129	c.556C>T	c.(556-558)CCA>TCA	p.P186S	MID2_uc004enk.2_Missense_Mutation_p.P186S	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	midline 2 isoform 1	186						centrosome|microtubule	ligase activity|zinc ion binding			ovary(1)	1						GGAACCAGTGCCAGACACACA	0.522													T	107084451	C	T	107084451	3	4	50	1	0	0	0	0	1	0	0	0	9578	739	26	2	562	2	MID2	23	107084451	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	36743210	107084451	48186109	160	40762											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685821	125685821	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgcggttactggggttgatGatggccctggggatggcctc	17	8	0	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chrX:125685821G>A	uc004eul.2	-	1	1022	c.771C>T	c.(769-771)ATC>ATT	p.I257I		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	257										skin(3)|ovary(1)	4						TGGGGTTGATGATGGCCCTGG	0.622													A	125685821	G	A	125685821	2	1	50	1	0	0	0	0	0	0	0	1	4264	1280	45	4		4	DCAF12L1	23	125685821	Silent	SNP	G	TCGA-BR-7715-01A-11D-2053-08	18601370	125685821	29584739	161	40763											
USP26	83844	broad.mit.edu	37	chrX	132160682	132160682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactcattcaagctatagcGtttgaggtgaacaataagga	9	6	2	2			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chrX:132160682G>A	uc010nrm.1	-	6	2037	c.1567C>T	c.(1567-1569)CGC>TGC	p.R523C	USP26_uc011mvf.1_Missense_Mutation_p.R523C	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	523					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					AAGCTATAGCGTTTGAGGTGA	0.393													A	132160682	G	A	132160682	3	1	50	1	0	0	0	0	1	0	0	0	17054	1145	40	1	1177	1	USP26	23	132160682	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	6474861	132160682	23109878	162	40764											
SLITRK4	139065	broad.mit.edu	37	chrX	142718111	142718111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggaggcaggatgcgcaCgtcaaaatcactgccggtgc	14	10	2	1			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chrX:142718111C>T	uc004fbx.2	-	2	1190	c.814G>A	c.(814-816)GTG>ATG	p.V272M	SLITRK4_uc004fby.2_Missense_Mutation_p.V272M	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	272	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					AGGATGCGCACGTCAAAATCA	0.448													T	142718111	C	T	142718111	3	4	50	1	0	0	0	0	1	0	0	0	14745	536	19	1	1703	1	SLITRK4	23	142718111	Missense_Mutation	SNP	C	TCGA-BR-7715-01A-11D-2053-08	10557429	142718111	12552449	163	40765											
ATP2B3	492	broad.mit.edu	37	chrX	152821535	152821535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctatccgaaaatgccagcGtgctggcatcacagtccgca	10	13	1	0			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chrX:152821535G>A	uc004fht.1	+	12	2213	c.2087G>A	c.(2086-2088)CGT>CAT	p.R696H	ATP2B3_uc004fhs.1_Missense_Mutation_p.R696H	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	696	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAATGCCAGCGTGCTGGCATC	0.597													A	152821535	G	A	152821535	3	1	50	1	0	0	0	0	1	0	0	0	1141	1145	40	1	2133	1	ATP2B3	23	152821535	Missense_Mutation	SNP	G	TCGA-BR-7715-01A-11D-2053-08	10103424	152821535	2449025	164	40766											
ZBTB17	7709	broad.mit.edu	37	chr1	16269638	16269638	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgctgcacttgtgtgggcgGatgttgtcgtggtggcgaat	17	7	0	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:16269638G>A	uc001axl.3	-	13	1988	c.1749C>T	c.(1747-1749)ATC>ATT	p.I583I	ZBTB17_uc010obq.1_Silent_p.I500I|ZBTB17_uc010obr.1_Silent_p.I583I|ZBTB17_uc010obs.1_Silent_p.I507I	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	583					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGTGGGCGGATGTTGTCGT	0.592													A	16269638	G	A	16269638	2	1	51	1	0	0	0	0	0	0	0	1	17524	1164	41	4		4	ZBTB17	1	16269638	Silent	SNP	G	TCGA-BR-7716-01A-21D-2053-08		16269638	232980983	1	40767											
EPHA8	2046	broad.mit.edu	37	chr1	22903373	22903373	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcggcgggatgcctgtgtgGgtgagcgcgccatggcctgg	20	10	0	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:22903373G>C	uc001bfx.1	+	3	948	c.823G>C	c.(823-825)GCC>CCC	p.A275P	EPHA8_uc001bfw.2_Missense_Mutation_p.A275P	NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	275	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGCCTGTGTGGGTGAGCGCGC	0.682													C	22903373	G	C	22903373	3	2	51	1	0	0	0	0	1	0	0	0	5173	1246	43	5	833	5	EPHA8	1	22903373	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	6633735	22903373	226347248	2	40768											
MACF1	23499	broad.mit.edu	37	chr1	39753193	39753193	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagatgaaggcaatctcCgatttgtgtatgaactactg	10	7	1	4			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:39753193C>T	uc010ois.1	+	16	1964	c.1759C>T	c.(1759-1761)CGA>TGA	p.R587*	MACF1_uc001cda.1_Nonsense_Mutation_p.R495*	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	587					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGCAATCTCCGATTTGTGTA	0.468													T	39753193	C	T	39753193	4	4	51	1	0	0	0	0	0	1	0	0	9144	644	23	1	1813	1	MACF1	1	39753193	Nonsense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	16849820	39753193	209497428	3	40769											
MACF1	23499	broad.mit.edu	37	chr1	39788669	39788669	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtgatgcactccggcgtctgGaggaggaggaggtgaggaca	19	7	1	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:39788669G>C	uc010ois.1	+	34	4445	c.4240G>C	c.(4240-4242)GAG>CAG	p.E1414Q	MACF1_uc001cda.1_Missense_Mutation_p.E1322Q|MACF1_uc001cdc.1_Missense_Mutation_p.E501Q|MACF1_uc009vvq.1_Missense_Mutation_p.E471Q|MACF1_uc001cdb.1_Missense_Mutation_p.E501Q	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1414	Poly-Glu.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCGGCGTCTGGAGGAGGAGGA	0.388													C	39788669	G	C	39788669	3	2	51	1	0	0	0	0	1	0	0	0	9144	1175	41	5	4366	5	MACF1	1	39788669	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	35476	39788669	209461952	4	40770											
PPT1	5538	broad.mit.edu	37	chr1	40558102	40558102	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcccaatctctaaagataAgacgtaaattccaggtattt	5	9	1	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:40558102A>G	uc001cfb.2	-	2	434	c.202T>C	c.(202-204)TTA>CTA	p.L68L	PPT1_uc010ojf.1_Silent_p.L18L|PPT1_uc010ojg.1_Intron|PPT1_uc009vwa.2_RNA	NM_000310	NP_000301	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1 isoform 1	68					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			ovary(1)	1	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTAAAGATAAGACGTAAATT	0.408													G	40558102	A	G	40558102	2	3	51	1	0	0	0	0	0	0	0	1	12411	69	3	3		3	PPT1	1	40558102	Silent	SNP	A	TCGA-BR-7716-01A-21D-2053-08	769433	40558102	208692519	5	40771											
SLFNL1	200172	broad.mit.edu	37	chr1	41485930	41485930	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagggcccttgggcctcacTcaatagcaggtccttcccac	10	15	2	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:41485930T>G	uc001cgm.1	-	2	623	c.403A>C	c.(403-405)AGT>CGT	p.S135R	SLFNL1_uc009vwf.1_Missense_Mutation_p.S135R|SLFNL1_uc001cgn.1_Missense_Mutation_p.S135R|SLFNL1_uc009vwg.1_Missense_Mutation_p.S135R	NM_144990	NP_659427	Q499Z3	SLNL1_HUMAN	schlafen-like 1	135							ATP binding			skin(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				TGGGCCTCACTCAATAGCAGG	0.632													G	41485930	T	G	41485930	3	3	51	1	0	0	0	0	1	0	0	0	14738	1551	54	5	836	5	SLFNL1	1	41485930	Missense_Mutation	SNP	T	TCGA-BR-7716-01A-21D-2053-08	927828	41485930	207764691	6	40772											
USP24	23358	broad.mit.edu	37	chr1	55566627	55566627	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtctgtgtcatcatccactGaaagtaatgactgcacagaa	8	9	3	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:55566627G>A	uc001cyg.3	-	41	4676	c.4676C>T	c.(4675-4677)TCA>TTA	p.S1559L		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	1719					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						ATCATCCACTGAAAGTAATGA	0.378													A	55566627	G	A	55566627	3	1	51	1	0	0	0	0	1	0	0	0	17052	1294	45	4	2806	4	USP24	1	55566627	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	14080697	55566627	193683994	7	40773											
USP24	23358	broad.mit.edu	37	chr1	55599811	55599812	+	Silent	DNP	GA	GA	AT													atcagtgggtatcaagagcaGaagcttccgtactcgtagag							TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:55599811_55599812GA>AT	uc001cyg.3	-	27	2832_2833	c.2832_2833TC>AT	c.(2830-2835)CTTCTG>CTATTG	p.944_945LL>LL		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	1104_1105					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.E944G(1)		ovary(6)|kidney(6)|breast(1)	13						ATCAAGAGCAGAAGCTTCCGTA	0.342													AT	55599812	GA	AT	55599811	2	1	51	1	0	0	0	0	0	0	0	1	17052	933	33	4		4	USP24	1	55599811	Silent	DNP	GA	TCGA-BR-7716-01A-21D-2053-08	33184	55599811	193650810	8	40774											
SORT1	6272	broad.mit.edu	37	chr1	109883434	109883434	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggtagtgtagagatgTcggtccaaagacttggaata	13	6	0	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:109883434T>C	uc001dxm.1	-	10	1225	c.1176A>G	c.(1174-1176)CGA>CGG	p.R392R	SORT1_uc010ovi.1_Silent_p.R255R	NM_002959	NP_002950	Q99523	SORT_HUMAN	sortilin 1 preproprotein	392	Extracellular (Potential).				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			ovary(1)	1		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TGTAGAGATGTCGGTCCAAAG	0.493													C	109883434	T	C	109883434	2	2	51	1	0	0	0	0	0	0	0	1	14935	1654	58	3		3	SORT1	1	109883434	Silent	SNP	T	TCGA-BR-7716-01A-21D-2053-08	54283623	109883434	139367187	9	40775											
PDE4DIP	9659	broad.mit.edu	37	chr1	144855852	144855852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggcactggtgctgctcCgaagctcatgaatacctttg	12	11	1	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:144855852C>T	uc001elw.3	-	41	6992	c.6701G>A	c.(6700-6702)CGG>CAG	p.R2234Q	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R2128Q|PDE4DIP_uc001elv.3_Missense_Mutation_p.R1241Q	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	2234					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGTGCTGCTCCGAAGCTCATG	0.577			T	PDGFRB	MPD								T	144855852	C	T	144855852	3	4	51	1	0	0	0	0	1	0	0	0	11643	652	23	1	355	1	PDE4DIP	1	144855852	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	34972418	144855852	104394769	10	40776											
SPRR1B	6699	broad.mit.edu	37	chr1	153004879	153004879	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctcagcttcagcagcagCaggtgaaacagccttgccag	10	15	2	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:153004879C>T	uc001fba.2	+	2	122	c.58C>T	c.(58-60)CAG>TAG	p.Q20*	SPRR1B_uc009wnx.1_RNA	NM_003125	NP_003116	P22528	SPR1B_HUMAN	small proline-rich protein 1B	20	2.|2 X 12 AA approximate repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(1)	1	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCAGCAGCAGCAGGTGAAACA	0.582													T	153004879	C	T	153004879	4	4	51	1	0	0	0	0	0	1	0	0	15095	711	25	2	60	2	SPRR1B	1	153004879	Nonsense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	8149027	153004879	96245742	11	40777											
SPTA1	6708	broad.mit.edu	37	chr1	158596641	158596641	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catcatacctatccaagcctCtaccacatcagccttccagt	3	17	3	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:158596641C>A	uc001fst.1	-	41	6020	c.5821G>T	c.(5821-5823)GAG>TAG	p.E1941*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1941	Spectrin 19.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					ATCCAAGCCTCTACCACATCA	0.453													A	158596641	C	A	158596641	4	1	51	1	0	0	0	0	0	1	0	0	15115	922	32	5	1486	5	SPTA1	1	158596641	Nonsense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	5591762	158596641	90653980	12	40778											
STX6	10228	broad.mit.edu	37	chr1	180959171	180959171	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaattggctctctggagCtctcggtccagacgcccata	11	12	2	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:180959171C>T	uc010pnq.1	-	5	675	c.438G>A	c.(436-438)GAG>GAA	p.E146E	STX6_uc001goo.2_Silent_p.E146E|STX6_uc010pnr.1_Silent_p.E45E	NM_005819	NP_005810	O43752	STX6_HUMAN	syntaxin 6	146	Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			ovary(1)	1						CTCTCTGGAGCTCTCGGTCCA	0.552													T	180959171	C	T	180959171	2	4	51	1	0	0	0	0	0	0	0	1	15348	796	28	2		2	STX6	1	180959171	Silent	SNP	C	TCGA-BR-7716-01A-21D-2053-08	22362530	180959171	68291450	13	40779											
KDM5B	10765	broad.mit.edu	37	chr1	202733219	202733219	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acaacccattcgacgtctcaGattatgagttctggcttccg	8	12	2	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:202733219G>C	uc001gyf.2	-	6	882	c.766C>G	c.(766-768)CTG>GTG	p.L256V	KDM5B_uc009xag.2_Missense_Mutation_p.L292V|KDM5B_uc001gyg.1_Missense_Mutation_p.L98V	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	256					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						CGACGTCTCAGATTATGAGTT	0.303													C	202733219	G	C	202733219	3	2	51	1	0	0	0	0	1	0	0	0	8134	933	33	5	3956	5	KDM5B	1	202733219	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	21774048	202733219	46517402	14	40780											
USH2A	7399	broad.mit.edu	37	chr1	215799151	215799151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgtctgtgaatgtggtgCgttccttagtcactgagctg	15	7	2	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:215799151C>T	uc001hku.1	-	72	15968	c.15581G>A	c.(15580-15582)CGC>CAC	p.R5194H		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	5194	Cytoplasmic (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAATGTGGTGCGTTCCTTAGT	0.468										HNSCC(13;0.011)			T	215799151	C	T	215799151	3	4	51	1	0	0	0	0	1	0	0	0	17033	768	27	1	31	1	USH2A	1	215799151	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	13065932	215799151	33451470	15	40781											
USH2A	7399	broad.mit.edu	37	chr1	215821986	215821986	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtggggcaggatgggttctCagttcagctgtcggtccttt	16	8	2	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:215821986C>T	uc001hku.1	-	66	14853	c.14466G>A	c.(14464-14466)CTG>CTA	p.L4822L		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4822	Fibronectin type-III 33.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GATGGGTTCTCAGTTCAGCTG	0.577										HNSCC(13;0.011)			T	215821986	C	T	215821986	2	4	51	1	0	0	0	0	0	0	0	1	17033	813	29	4		4	USH2A	1	215821986	Silent	SNP	C	TCGA-BR-7716-01A-21D-2053-08	22835	215821986	33428635	16	40782											
OR2AK2	391191	broad.mit.edu	37	chr1	248129528	248129528	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttacaccattgtcacacctCtactgaacccatttatctac	2	14	3	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:248129528C>G	uc010pzd.1	+	1	895	c.895C>G	c.(895-897)CTA>GTA	p.L299V	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	299	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TGTCACACCTCTACTGAACCC	0.468													G	248129528	C	G	248129528	3	3	51	1	0	0	0	0	1	0	0	0	10986	912	32	5	897	5	OR2AK2	1	248129528	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	32307542	248129528	1121093	17	40783											
SLC4A1AP	22950	broad.mit.edu	37	chr2	27887235	27887235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcctggagcacccttcgGtgtctcggtaccacgcagtg	13	13	1	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:27887235G>A	uc002rlk.3	+	1	898	c.616G>A	c.(616-618)GTG>ATG	p.V206M	SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger),	206	FHA.					cytoplasm|nucleus	double-stranded RNA binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)					GCACCCTTCGGTGTCTCGGTA	0.627													A	27887235	G	A	27887235	3	1	51	1	0	0	0	0	1	0	0	0	14653	1261	44	4	618	4	SLC4A1AP	2	27887235	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08		27887235	215312138	18	40784											
CLIP4	79745	broad.mit.edu	37	chr2	29379298	29379298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagaacttaaaactgtgaCagagaaagatggtaatatac	9	4	0	5			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:29379298C>T	uc002rmv.2	+	10	1483	c.1244C>T	c.(1243-1245)ACA>ATA	p.T415I	CLIP4_uc002rmu.2_Missense_Mutation_p.T415I|CLIP4_uc010ezm.1_Missense_Mutation_p.T415I|CLIP4_uc002rmw.2_RNA|CLIP4_uc010ymn.1_Missense_Mutation_p.T397I	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	415										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					AAAACTGTGACAGAGAAAGAT	0.323													T	29379298	C	T	29379298	3	4	51	1	0	0	0	0	1	0	0	0	3535	478	17	4	1278	4	CLIP4	2	29379298	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	1492063	29379298	213820075	19	40785											
EML4	27436	broad.mit.edu	37	chr2	42528406	42528406	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatcaaatcagcaaacaaatCaaagctcatgatggcagtgt	7	8	4	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:42528406C>T	uc002rsi.2	+	14	1777	c.1515C>T	c.(1513-1515)ATC>ATT	p.I505I	EML4_uc010fap.2_Silent_p.I447I|EML4_uc002rsj.2_Silent_p.I194I|EML4_uc010faq.2_5'UTR|EML4_uc010ynv.1_5'UTR	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	505					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(246)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						GCAAACAAATCAAAGCTCATG	0.338			T	ALK	NSCLC								T	42528406	C	T	42528406	2	4	51	1	0	0	0	0	0	0	0	1	5099	816	29	4		4	EML4	2	42528406	Silent	SNP	C	TCGA-BR-7716-01A-21D-2053-08	13149108	42528406	200670967	20	40786											
ASB3	51130	broad.mit.edu	37	chr2	53992553	53992553	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caaacattctacagagttgtGataagctgcttcatgaattg	8	7	2	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:53992553G>A	uc002rxg.1	-	2	292	c.157C>T	c.(157-159)CAC>TAC	p.H53Y	ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Missense_Mutation_p.H91Y|ASB3_uc010yoo.1_Missense_Mutation_p.H53Y|CHAC2_uc002rxk.1_5'Flank|uc002rxj.1_5'Flank	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	ankyrin repeat and SOCS box-containing protein 3	53	ANK 2.				intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACAGAGTTGTGATAAGCTGCT	0.378													A	53992553	G	A	53992553	3	1	51	1	0	0	0	0	1	0	0	0	1024	1290	45	4	1435	4	ASB3	2	53992553	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	11464147	53992553	189206820	21	40787											
AFF3	3899	broad.mit.edu	37	chr2	100360598	100360598	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtccagaggatacaagctgaGagtcctgaaagaacaagaaa	11	7	0	5			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:100360598G>C	uc002tag.2	-	9	1243	c.1007C>G	c.(1006-1008)TCT>TGT	p.S336C	AFF3_uc002taf.2_Missense_Mutation_p.S361C|AFF3_uc010fiq.1_Missense_Mutation_p.S336C|AFF3_uc010yvr.1_Missense_Mutation_p.S490C|AFF3_uc002tah.1_Missense_Mutation_p.S361C|AFF3_uc010fir.1_Missense_Mutation_p.S413C	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	336					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						TACAAGCTGAGAGTCCTGAAA	0.418													C	100360598	G	C	100360598	3	2	51	1	0	0	0	0	1	0	0	0	358	942	33	5	2737	5	AFF3	2	100360598	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	46368045	100360598	142838775	22	40788											
SLC9A2	6549	broad.mit.edu	37	chr2	103318933	103318933	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgaaattcgagaactcttatCaagaaatctctatcaaatcc	4	9	4	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:103318933C>G	uc002tca.2	+	9	1959	c.1817C>G	c.(1816-1818)TCA>TGA	p.S606*		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	606	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						GAACTCTTATCAAGAAATCTC	0.343													G	103318933	C	G	103318933	4	3	51	1	0	0	0	0	0	1	0	0	14712	838	29	5	1851	5	SLC9A2	2	103318933	Nonsense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	2958335	103318933	139880440	23	40789											
TTC21B	79809	broad.mit.edu	37	chr2	166770142	166770142	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aagaccgagggttagccattCtttcagcaatttctctggaa	9	9	3	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:166770142C>G	uc002udk.2	-	16	2286	c.2153G>C	c.(2152-2154)AGA>ACA	p.R718T		NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	718						cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						GTTAGCCATTCTTTCAGCAAT	0.308													G	166770142	C	G	166770142	3	3	51	1	0	0	0	0	1	0	0	0	16685	913	32	5	1853	5	TTC21B	2	166770142	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	63451209	166770142	76429231	24	40790											
XIRP2	129446	broad.mit.edu	37	chr2	168103881	168103881	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggccaagtggcaagggggAgcagatactctcagtcaaac	14	10	2	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:168103881A>G	uc002udx.2	+	8	5997	c.5979A>G	c.(5977-5979)GGA>GGG	p.G1993G	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.G1818G|XIRP2_uc010fpq.2_Silent_p.G1771G|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1818					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GGCAAGGGGGAGCAGATACTC	0.453													G	168103881	A	G	168103881	2	3	51	1	0	0	0	0	0	0	0	1	17427	291	11	3		3	XIRP2	2	168103881	Silent	SNP	A	TCGA-BR-7716-01A-21D-2053-08	1333739	168103881	75095492	25	40791											
SCRN3	79634	broad.mit.edu	37	chr2	175269040	175269040	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagcttctaaataagcacAaaggtaattttatcatataa	4	6	2	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:175269040A>G	uc002uiq.2	+	5	839	c.751A>G	c.(751-753)AAA>GAA	p.K251E	SCRN3_uc010zen.1_Missense_Mutation_p.K244E|SCRN3_uc010zeo.1_Missense_Mutation_p.K49E	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	secernin 3	251					proteolysis		dipeptidase activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AAATAAGCACAAAGGTAATTT	0.333													G	175269040	A	G	175269040	3	3	51	1	0	0	0	0	1	0	0	0	13940	131	5	3	765	3	SCRN3	2	175269040	Missense_Mutation	SNP	A	TCGA-BR-7716-01A-21D-2053-08	7165159	175269040	67930333	26	40792											
TTN	7273	broad.mit.edu	37	chr2	179647145	179647145	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcataaccacatctcttgaCtcaacaaagctggaaagaga	7	10	3	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:179647145C>G	uc010zfg.1	-	20	3398	c.3174G>C	c.(3172-3174)GAG>GAC	p.E1058D	TTN_uc010zfh.1_Missense_Mutation_p.E1012D|TTN_uc010zfi.1_Missense_Mutation_p.E1012D|TTN_uc010zfj.1_Missense_Mutation_p.E1012D|TTN_uc002unb.2_Missense_Mutation_p.E1058D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1058							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCTCTTGACTCAACAAAGC	0.468													G	179647145	C	G	179647145	3	3	51	1	0	0	0	0	1	0	0	0	16732	564	20	5	108186	5	TTN	2	179647145	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	4378105	179647145	63552228	27	40793											
NIF3L1	60491	broad.mit.edu	37	chr2	201768269	201768269	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcttcccaaggaataaatgtCatcctctgtgaacacagcaa	7	11	2	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:201768269C>T	uc002uwm.2	+	7	1093	c.1002C>T	c.(1000-1002)GTC>GTT	p.V334V	NIF3L1_uc002uwl.2_Silent_p.V307V|NIF3L1_uc002uwn.2_Silent_p.V307V|NIF3L1_uc002uwo.2_Silent_p.V334V|NIF3L1_uc002uwp.2_Silent_p.V334V|NIF3L1_uc002uwq.2_3'UTR	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 isoform 1	334					positive regulation of transcription, DNA-dependent		transcription factor binding			skin(1)	1						GAATAAATGTCATCCTCTGTG	0.393													T	201768269	C	T	201768269	2	4	51	1	0	0	0	0	0	0	0	1	10416	813	29	4		4	NIF3L1	2	201768269	Silent	SNP	C	TCGA-BR-7716-01A-21D-2053-08	22121124	201768269	41431104	28	40794											
NIF3L1	60491	broad.mit.edu	37	chr2	201768371	201768371	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ataaatattatcctatcagaGactgacagggaccctcttca	6	10	3	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:201768371G>C	uc002uwm.2	+	7	1195	c.1104G>C	c.(1102-1104)GAG>GAC	p.E368D	NIF3L1_uc002uwl.2_Missense_Mutation_p.E341D|NIF3L1_uc002uwn.2_Missense_Mutation_p.E341D|NIF3L1_uc002uwo.2_Missense_Mutation_p.E368D|NIF3L1_uc002uwp.2_Missense_Mutation_p.E368D|NIF3L1_uc002uwq.2_3'UTR	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 isoform 1	368					positive regulation of transcription, DNA-dependent		transcription factor binding			skin(1)	1						TCCTATCAGAGACTGACAGGG	0.403													C	201768371	G	C	201768371	3	2	51	1	0	0	0	0	1	0	0	0	10416	933	33	5	1126	5	NIF3L1	2	201768371	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	102	201768371	41431002	29	40795											
STRADB	55437	broad.mit.edu	37	chr2	202340424	202340424	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacattctctttggagccgtGagagggttgaactatctgca	11	8	2	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:202340424G>A	uc002uyd.3	+	7	872	c.507G>A	c.(505-507)GTG>GTA	p.V169V		NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	169	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			skin(2)|stomach(1)|lung(1)	4						TTGGAGCCGTGAGAGGGTTGA	0.348													A	202340424	G	A	202340424	2	1	51	1	0	0	0	0	0	0	0	1	15324	1277	45	4		4	STRADB	2	202340424	Silent	SNP	G	TCGA-BR-7716-01A-21D-2053-08	572053	202340424	40858949	30	40796											
AGAP1	116987	broad.mit.edu	37	chr2	236839529	236839529	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctccagtgccgaccagtggaGtgaggctacggtcattgcaa	13	11	1	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:236839529G>C	uc002vvs.2	+	12	2040	c.1445G>C	c.(1444-1446)AGT>ACT	p.S482T	AGAP1_uc002vvt.2_Intron	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	482	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						GACCAGTGGAGTGAGGCTACG	0.622													C	236839529	G	C	236839529	3	2	51	1	0	0	0	0	1	0	0	0	366	1029	36	5	1491	5	AGAP1	2	236839529	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	34499105	236839529	6359844	31	40797											
HTR1F	3355	broad.mit.edu	37	chr3	88040875	88040875	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgacaaatgtaaaatttctGaagaaatgtccaattttttg	7	4	1	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr3:88040875G>T	uc003dqr.2	+	2	1134	c.976G>T	c.(976-978)GAA>TAA	p.E326*		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	326	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TAAAATTTCTGAAGAAATGTC	0.333													T	88040875	G	T	88040875	4	4	51	1	0	0	0	0	0	1	0	0	7440	1291	45	5	978	5	HTR1F	3	88040875	Nonsense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08		88040875	109981555	32	40798											
EPHA6	285220	broad.mit.edu	37	chr3	96706518	96706518	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgcatcctcaaactcaacacTgaaattcgtgaggtggggcc	10	12	2	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr3:96706518T>A	uc010how.1	+	3	838	c.795T>A	c.(793-795)ACT>ACA	p.T265T	EPHA6_uc003drp.1_Silent_p.T265T	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	170	Ephrin-binding.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						AACTCAACACTGAAATTCGTG	0.433													A	96706518	T	A	96706518	2	1	51	1	0	0	0	0	0	0	0	1	5171	1567	55	5		5	EPHA6	3	96706518	Silent	SNP	T	TCGA-BR-7716-01A-21D-2053-08	8665643	96706518	101315912	33	40799											
EPHA6	285220	broad.mit.edu	37	chr3	96706657	96706657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcgtaacttggccatgtttCctgataccattccaagggtt	8	10	0	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr3:96706657C>T	uc010how.1	+	3	977	c.934C>T	c.(934-936)CCT>TCT	p.P312S	EPHA6_uc003drp.1_Missense_Mutation_p.P312S	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	217	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						GGCCATGTTTCCTGATACCAT	0.468													T	96706657	C	T	96706657	3	4	51	1	0	0	0	0	1	0	0	0	5171	855	30	4	944	4	EPHA6	3	96706657	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	139	96706657	101315773	34	40800											
OR5K3	403277	broad.mit.edu	37	chr3	98110025	98110025	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttaactttctgtgggtctcaTcaaatcaatcattttttctg	5	8	6	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr3:98110025T>A	uc011bgw.1	+	1	516	c.516T>A	c.(514-516)CAT>CAA	p.H172Q		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K,	172	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GTGGGTCTCATCAAATCAATC	0.383													A	98110025	T	A	98110025	3	1	51	1	0	0	0	0	1	0	0	0	11168	1432	50	5	518	5	OR5K3	3	98110025	Missense_Mutation	SNP	T	TCGA-BR-7716-01A-21D-2053-08	1403368	98110025	99912405	35	40801											
POLQ	10721	broad.mit.edu	37	chr3	121251880	121251880	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attccctcacaagtttcattGaagagtcatatatggaattt	6	7	3	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr3:121251880G>A	uc003eee.3	-	6	1046	c.917C>T	c.(916-918)TCA>TTA	p.S306L		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	306					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		AAGTTTCATTGAAGAGTCATA	0.383								DNA_polymerases_(catalytic_subunits)					A	121251880	G	A	121251880	3	1	51	1	0	0	0	0	1	0	0	0	12208	1294	45	4	6955	4	POLQ	3	121251880	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	23141855	121251880	76770550	36	40802											
MRPL3	11222	broad.mit.edu	37	chr3	131220467	131220467	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcagagaccaactgcTtaatgaatgggacattttct	7	9	3	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr3:131220467T>A	uc003eoh.2	-	2	349	c.185A>T	c.(184-186)AAG>ATG	p.K62M	MRPL3_uc011blo.1_Translation_Start_Site|MRPL3_uc011blp.1_Missense_Mutation_p.K89M	NM_007208	NP_009139	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	62					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome				0						GACCAACTGCTTAATGAATGG	0.403													A	131220467	T	A	131220467	3	1	51	1	0	0	0	0	1	0	0	0	9793	1609	56	5	897	5	MRPL3	3	131220467	Missense_Mutation	SNP	T	TCGA-BR-7716-01A-21D-2053-08	9968587	131220467	66801963	37	40803											
P2RY12	64805	broad.mit.edu	37	chr3	151056202	151056202	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aatgcccagatgacaacagaGagaatcttagcccccaagag	9	11	1	5			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr3:151056202G>C	uc003eyw.1	-	2	648	c.432C>G	c.(430-432)CTC>CTG	p.L144L	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Silent_p.L144L	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y12	144	Helical; Name=4; (Potential).				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	TGACAACAGAGAGAATCTTAG	0.443													C	151056202	G	C	151056202	2	2	51	1	0	0	0	0	0	0	0	1	11349	929	33	5		5	P2RY12	3	151056202	Silent	SNP	G	TCGA-BR-7716-01A-21D-2053-08	19835735	151056202	46966228	38	40804											
VEPH1	79674	broad.mit.edu	37	chr3	157188178	157188178	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctttcccaaagggtctcagGttatgttccaagcaggagtc	10	10	2	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr3:157188178G>C	uc003fbj.1	-	3	596	c.279C>G	c.(277-279)AAC>AAG	p.N93K	VEPH1_uc003fbk.1_Missense_Mutation_p.N93K|VEPH1_uc010hvu.1_Missense_Mutation_p.N93K|VEPH1_uc003fbm.2_Missense_Mutation_p.N93K|VEPH1_uc003fbn.2_Missense_Mutation_p.N93K	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	93						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGGGTCTCAGGTTATGTTCCA	0.463													C	157188178	G	C	157188178	3	2	51	1	0	0	0	0	1	0	0	0	17151	1252	44	5	2392	5	VEPH1	3	157188178	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	6131976	157188178	40834252	39	40805											
SLC7A14	57709	broad.mit.edu	37	chr3	170201172	170201172	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaagagggaccccagcaagCtgactgtcagtcctgcaacc	12	13	1	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr3:170201172C>A	uc003fgz.2	-	6	1362	c.1046G>T	c.(1045-1047)AGC>ATC	p.S349I	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	349	Helical; (Potential).					integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CCCCAGCAAGCTGACTGTCAG	0.527											OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	170201172	C	A	170201172	3	1	51	1	0	0	0	0	1	0	0	0	14696	797	28	5	1281	5	SLC7A14	3	170201172	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	13012994	170201172	27821258	40	40806											
EXOC1	55763	broad.mit.edu	37	chr4	56755095	56755095	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtgctgtcaaacaggaaacaGagagtgagtatgcttagtgt	13	5	1	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr4:56755095G>C	uc003hbe.1	+	11	1530	c.1372G>C	c.(1372-1374)GAG>CAG	p.E458Q	EXOC1_uc003hbf.1_Missense_Mutation_p.E458Q|EXOC1_uc003hbg.1_Intron	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	458					exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)					ACAGGAAACAGAGAGTGAGTA	0.348													C	56755095	G	C	56755095	3	2	51	1	0	0	0	0	1	0	0	0	5301	943	33	5	1410	5	EXOC1	4	56755095	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08		56755095	134399181	41	40807											
PDLIM5	10611	broad.mit.edu	37	chr4	95578606	95578606	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagtgcgttgaaacaaacttGgcatgtttcctgttttgtgt	10	7	0	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr4:95578606G>C	uc003hti.2	+	11	1644	c.1493G>C	c.(1492-1494)TGG>TCG	p.W498S	PDLIM5_uc011cdx.1_Missense_Mutation_p.W395S|PDLIM5_uc003hth.2_Missense_Mutation_p.W389S|PDLIM5_uc003htj.2_Missense_Mutation_p.W173S|PDLIM5_uc003htk.2_Missense_Mutation_p.W527S|PDLIM5_uc011cdy.1_Missense_Mutation_p.W376S|PDLIM5_uc003htl.2_Missense_Mutation_p.W173S	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	498	LIM zinc-binding 2.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AAACAAACTTGGCATGTTTCC	0.373													C	95578606	G	C	95578606	3	2	51	1	0	0	0	0	1	0	0	0	11683	1357	47	5	1691	5	PDLIM5	4	95578606	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	38823511	95578606	95575670	42	40808											
OTUD4	54726	broad.mit.edu	37	chr4	146071793	146071793	+	Frame_Shift_Del	DEL	T	T	-													ggatgctgcagtcgaggaggTagtgctgatggggcttttat							TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr4:146071793delT	uc003ika.3	-	13	1074	c.936delA	c.(934-936)CTAfs	p.L312fs	OTUD4_uc003ijz.3_Frame_Shift_Del_p.L311fs	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	376							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					GTCGAGGAGGTAGTGCTGATG	0.423													-	146071793	T	-	146071793	7	5	51	1	0	1	0	1	0	0	0	0	11314	1625	57	0	2249	0	OTUD4	4	146071793	Frame_Shift_Del	DEL	T	TCGA-BR-7716-01A-21D-2053-08	50493187	146071793	45082483	43	40809											
PRMT10	90826	broad.mit.edu	37	chr4	148575442	148575442	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcattgccattttaaagcCttcatgatatgggatgttgt	9	7	2	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr4:148575442C>A	uc003ilc.2	-	9	1748	c.1606G>T	c.(1606-1608)GGC>TGC	p.G536C	PRMT10_uc003ilb.2_Missense_Mutation_p.G180C|PRMT10_uc003ild.2_Missense_Mutation_p.G423C	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10	536						cytoplasm	binding|protein methyltransferase activity			ovary(1)|central_nervous_system(1)	2						ATTTTAAAGCCTTCATGATAT	0.413													A	148575442	C	A	148575442	3	1	51	1	0	0	0	0	1	0	0	0	12536	681	24	5	947	5	PRMT10	4	148575442	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	2503649	148575442	42578834	44	40810											
PLEKHG4B	153478	broad.mit.edu	37	chr5	182371	182371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagagccagaactagagaCgggcacccaggctgcagtgt	14	12	0	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr5:182371C>T	uc003jak.2	+	18	3799	c.3749C>T	c.(3748-3750)ACG>ATG	p.T1250M		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	1250					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GAACTAGAGACGGGCACCCAG	0.647													T	182371	C	T	182371	3	4	51	1	0	0	0	0	1	0	0	0	12072	536	19	1	3819	1	PLEKHG4B	5	182371	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08		182371	180732889	45	40811											
CLPTM1L	81037	broad.mit.edu	37	chr5	1324909	1324909	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actcctcggttttcctctcaGattcgctgtaagtgccaaac	7	13	1	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr5:1324909G>A	uc003jch.2	-	11	1212	c.1166C>T	c.(1165-1167)TCT>TTT	p.S389F	CLPTM1L_uc003jcg.2_Missense_Mutation_p.S220F	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	CLPTM1-like	389	Cytoplasmic (Potential).				apoptosis	integral to membrane				breast(1)|central_nervous_system(1)	2	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		TTTCCTCTCAGATTCGCTGTA	0.478													A	1324909	G	A	1324909	3	1	51	1	0	0	0	0	1	0	0	0	3555	942	33	4	478	4	CLPTM1L	5	1324909	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	1142538	1324909	179590351	46	40812											
PDE8B	8622	broad.mit.edu	37	chr5	76621533	76621533	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatagacaaactcagaactTcgatgcagaagcagtgtgca	9	9	2	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr5:76621533T>G	uc003kfa.2	+	3	614	c.569T>G	c.(568-570)TTC>TGC	p.F190C	PDE8B_uc003kfb.2_Missense_Mutation_p.F170C|PDE8B_uc003kfc.2_Missense_Mutation_p.F190C|PDE8B_uc003kfd.2_Missense_Mutation_p.F190C|PDE8B_uc003kfe.2_Missense_Mutation_p.F190C	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	190					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		ACTCAGAACTTCGATGCAGAA	0.333													G	76621533	T	G	76621533	3	3	51	1	0	0	0	0	1	0	0	0	11654	1783	62	5	579	5	PDE8B	5	76621533	Missense_Mutation	SNP	T	TCGA-BR-7716-01A-21D-2053-08	75296624	76621533	104293727	47	40813											
RASGRF2	5924	broad.mit.edu	37	chr5	80419490	80419490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctgcaccagcggaccgaGcaggagtggaaagctcccct	13	13	1	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr5:80419490G>A	uc003kha.1	+	16	2500	c.2500G>A	c.(2500-2502)GCA>ACA	p.A834T	RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	834					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGCGGACCGAGCAGGAGTGGA	0.522													A	80419490	G	A	80419490	3	1	51	1	0	0	0	0	1	0	0	0	13073	971	34	2	2562	2	RASGRF2	5	80419490	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	3797957	80419490	100495770	48	40814											
MCC	4163	broad.mit.edu	37	chr5	112379318	112379318	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagagctggggaggcagcatCagcacactcctgacaacagc	12	13	1	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr5:112379318C>G	uc003kqj.3	-	15	2625	c.2095G>C	c.(2095-2097)GAT>CAT	p.D699H	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.D889H	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	699					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GAGGCAGCATCAGCACACTCC	0.597											OREG0016728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	112379318	C	G	112379318	3	3	51	1	0	0	0	0	1	0	0	0	9373	826	29	5	406	5	MCC	5	112379318	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	31959828	112379318	68535942	49	40815											
FAT2	2196	broad.mit.edu	37	chr5	150905343	150905343	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tctcacctggatctgaagctGataccattcctgagccctcc	7	15	2	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr5:150905343G>C	uc003lue.3	-	17	10505	c.10492C>G	c.(10492-10494)CAG>GAG	p.Q3498E	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.Q191E	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3498	Extracellular (Potential).|Cadherin 31.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCTGAAGCTGATACCATTCC	0.567													C	150905343	G	C	150905343	3	2	51	1	0	0	0	0	1	0	0	0	5690	1299	45	5	2585	5	FAT2	5	150905343	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	38526025	150905343	30009917	50	40816											
GABRG2	2566	broad.mit.edu	37	chr5	161569308	161569308	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caataaggatgctgttccagCcagaacatctttaggtgaga	10	8	1	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr5:161569308C>A	uc003lyz.3	+	7	1266	c.908C>A	c.(907-909)GCC>GAC	p.A303D	GABRG2_uc010jjc.2_Missense_Mutation_p.A343D|GABRG2_uc003lyy.3_Missense_Mutation_p.A303D|GABRG2_uc011dej.1_Missense_Mutation_p.A208D	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	303	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GCTGTTCCAGCCAGAACATCT	0.398													A	161569308	C	A	161569308	3	1	51	1	0	0	0	0	1	0	0	0	6172	739	26	5	1058	5	GABRG2	5	161569308	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	10663965	161569308	19345952	51	40817											
C5orf45	51149	broad.mit.edu	37	chr5	179264517	179264517	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtccttgcgtcccatgaggtCttcccgcaaggcctctcaga	10	15	2	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr5:179264517C>A	uc003mla.2	-	7	950	c.906G>T	c.(904-906)AAG>AAT	p.K302N	SQSTM1_uc011dgr.1_3'UTR|SQSTM1_uc011dgs.1_3'UTR|SQSTM1_uc003mkw.3_3'UTR|SQSTM1_uc003mkx.2_3'UTR|C5orf45_uc003mky.2_Intron|C5orf45_uc011dgt.1_Intron|C5orf45_uc011dgu.1_Intron|C5orf45_uc003mlc.2_Missense_Mutation_p.K247N|C5orf45_uc003mlb.2_Missense_Mutation_p.K168N	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN	hypothetical protein LOC51149 isoform 1	302											0						CCCATGAGGTCTTCCCGCAAG	0.622													A	179264517	C	A	179264517	3	1	51	1	0	0	0	0	1	0	0	0	2304	912	32	5	129	5	C5orf45	5	179264517	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	17695209	179264517	1650743	52	40818											
BTNL8	79908	broad.mit.edu	37	chr5	180377062	180377062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtttccaagcagggaaaCattactgggaggtggacgga	15	6	0	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr5:180377062C>T	uc003mmp.2	+	8	1255	c.1021C>T	c.(1021-1023)CAT>TAT	p.H341Y	BTNL8_uc003mmq.2_3'UTR|BTNL8_uc011dhg.1_Missense_Mutation_p.H216Y|BTNL8_uc010jll.2_3'UTR|BTNL8_uc010jlm.2_Missense_Mutation_p.H225Y|BTNL8_uc011dhh.1_Missense_Mutation_p.H157Y	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8 isoform 2 precursor	341	B30.2/SPRY.|Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|skin(1)	2	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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCAGGGAAACATTACTGGGA	0.522													T	180377062	C	T	180377062	3	4	51	1	0	0	0	0	1	0	0	0	1567	478	17	4	1207	4	BTNL8	5	180377062	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	1112545	180377062	538198	53	40819											
GNB2L1	10399	broad.mit.edu	37	chr5	180664713	180664713	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atctacaatgatctttccctCtaaatcctggggaacagggc	8	11	3	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr5:180664713C>G	uc003mni.1	-	7	890	c.784G>C	c.(784-786)GAG>CAG	p.E262Q	GNB2L1_uc003mnh.1_Missense_Mutation_p.E221Q|GNB2L1_uc003mnk.1_Missense_Mutation_p.E184Q|GNB2L1_uc003mnj.1_Missense_Mutation_p.E216Q|GNB2L1_uc003mnl.1_Missense_Mutation_p.E46Q	NM_006098	NP_006089	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein),	262					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding				0	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		ATCTTTCCCTCTAAATCCTGG	0.448													G	180664713	C	G	180664713	3	3	51	1	0	0	0	0	1	0	0	0	6518	922	32	5	177	5	GNB2L1	5	180664713	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	287651	180664713	250547	54	40820											
TDRD6	221400	broad.mit.edu	37	chr6	46658843	46658843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagaattagtttatataaCgcatattgatgacccttgga	8	5	0	4			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr6:46658843C>T	uc003oyj.2	+	1	2978	c.2978C>T	c.(2977-2979)ACG>ATG	p.T993M	TDRD6_uc010jze.2_Missense_Mutation_p.T987M	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	993					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			GTTTATATAACGCATATTGAT	0.333													T	46658843	C	T	46658843	3	4	51	1	0	0	0	0	1	0	0	0	15731	536	19	1	2980	1	TDRD6	6	46658843	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08		46658843	124456224	55	40821											
PKHD1	5314	broad.mit.edu	37	chr6	51907859	51907859	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaactcgttttgttcacTgtaacctgcaagaactggga	9	9	1	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr6:51907859T>A	uc003pah.1	-	27	3171	c.2895A>T	c.(2893-2895)ACA>ACT	p.T965T	PKHD1_uc003pai.2_Silent_p.T965T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	965	IPT/TIG 4.|Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TTTTGTTCACTGTAACCTGCA	0.393													A	51907859	T	A	51907859	2	1	51	1	0	0	0	0	0	0	0	1	11971	1567	55	5		5	PKHD1	6	51907859	Silent	SNP	T	TCGA-BR-7716-01A-21D-2053-08	5249016	51907859	119207208	56	40822											
RFX6	222546	broad.mit.edu	37	chr6	117246699	117246699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcatggtttccagcgacGctgtgaagaatgaaagccac	13	9	0	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr6:117246699G>A	uc003pxm.2	+	16	1825	c.1762G>A	c.(1762-1764)GCT>ACT	p.A588T		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	588					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						TTCCAGCGACGCTGTGAAGAA	0.517													A	117246699	G	A	117246699	3	1	51	1	0	0	0	0	1	0	0	0	13267	1087	38	1	1824	1	RFX6	6	117246699	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	65338840	117246699	53868368	57	40823											
EYA4	2070	broad.mit.edu	37	chr6	133833864	133833864	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgtttttaacaggagtgTgatcaagttcatatagatga	9	4	2	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr6:133833864T>G	uc003qec.3	+	15	1745	c.1287T>G	c.(1285-1287)TGT>TGG	p.C429W	EYA4_uc011ecq.1_Missense_Mutation_p.C375W|EYA4_uc011ecr.1_Missense_Mutation_p.C381W|EYA4_uc003qed.3_Missense_Mutation_p.C429W|EYA4_uc003qee.3_Missense_Mutation_p.C406W|EYA4_uc011ecs.1_Missense_Mutation_p.C435W|uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	429					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AACAGGAGTGTGATCAAGTTC	0.378													G	133833864	T	G	133833864	3	3	51	1	0	0	0	0	1	0	0	0	5331	1702	59	5	1341	5	EYA4	6	133833864	Missense_Mutation	SNP	T	TCGA-BR-7716-01A-21D-2053-08	16587165	133833864	37281203	58	40824											
C6orf118	168090	broad.mit.edu	37	chr6	165712986	165712986	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgccatgtagagttcataTtcatcctgtacagaaacaaa	7	8	2	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr6:165712986T>C	uc003qum.3	-	4	918	c.882A>G	c.(880-882)GAA>GAG	p.E294E	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	294											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		AGAGTTCATATTCATCCTGTA	0.463													C	165712986	T	C	165712986	2	2	51	1	0	0	0	0	0	0	0	1	2323	1490	52	3		3	C6orf118	6	165712986	Silent	SNP	T	TCGA-BR-7716-01A-21D-2053-08	31879122	165712986	5402081	59	40825											
SNX8	29886	broad.mit.edu	37	chr7	2317745	2317745	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccagttacctggctggaaAcctcatactccacatgcttc	7	14	1	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr7:2317745A>C	uc003slw.2	-	2	333	c.290T>G	c.(289-291)GTT>GGT	p.V97G		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	97	PX.				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CTGGCTGGAAACCTCATACTC	0.582													C	2317745	A	C	2317745	3	2	51	1	0	0	0	0	1	0	0	0	14908	43	2	5	1147	5	SNX8	7	2317745	Missense_Mutation	SNP	A	TCGA-BR-7716-01A-21D-2053-08		2317745	156820918	60	40826											
C7orf26	79034	broad.mit.edu	37	chr7	6629948	6629948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccactcgctgctgcgccgcGatgcgctgagcgccgccaag	14	17	0	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr7:6629948G>A	uc003sqo.1	+	1	34	c.34G>A	c.(34-36)GAT>AAT	p.D12N	uc011jwy.1_5'Flank|C7orf26_uc003sqp.1_Missense_Mutation_p.D12N|C7orf26_uc003sqq.1_5'UTR	NM_024067	NP_076972	Q96N11	CG026_HUMAN	hypothetical protein LOC79034	12										ovary(1)	1		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GCTGCGCCGCGATGCGCTGAG	0.612													A	6629948	G	A	6629948	3	1	51	1	0	0	0	0	1	0	0	0	2381	1058	37	1	36	1	C7orf26	7	6629948	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	4312203	6629948	152508715	61	40827											
AGR2	10551	broad.mit.edu	37	chr7	16841346	16841346	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcctttttggctccaggtttGactgtggtatctctggccag	11	10	1	1	rs142975221		TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr7:16841346G>A	uc003str.2	-	2	262	c.75C>T	c.(73-75)GTC>GTT	p.V25V	AGR2_uc011jxy.1_Silent_p.V25V	NM_006408	NP_006399	O95994	AGR2_HUMAN	anterior gradient 2 homolog precursor	25					mucus secretion	endoplasmic reticulum|extracellular region	protein binding				0	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		CTCCAGGTTTGACTGTGGTAT	0.512													A	16841346	G	A	16841346	2	1	51	1	0	0	0	0	0	0	0	1	395	1277	45	4		4	AGR2	7	16841346	Silent	SNP	G	TCGA-BR-7716-01A-21D-2053-08	10211398	16841346	142297317	62	40828											
ABCB5	340273	broad.mit.edu	37	chr7	20793071	20793071	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagggctcttctccaaaAacccaaaattttattgttgg	7	9	2	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr7:20793071A>C	uc003suw.3	+	18	2729	c.2183A>C	c.(2182-2184)AAA>ACA	p.K728T	ABCB5_uc010kuh.2_Missense_Mutation_p.K1173T	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	728	Cytoplasmic (Potential).|ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						CTTCTCCAAAAACCCAAAATT	0.398													C	20793071	A	C	20793071	3	2	51	1	0	0	0	0	1	0	0	0	44	14	1	5	3661	5	ABCB5	7	20793071	Missense_Mutation	SNP	A	TCGA-BR-7716-01A-21D-2053-08	3951725	20793071	138345592	63	40829											
SAMD9	54809	broad.mit.edu	37	chr7	92733964	92733964	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gggttgatggtaaagatttaGagtagaaatcgtctcatttg	12	3	1	4			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr7:92733964G>C	uc003umf.2	-	3	1703	c.1447C>G	c.(1447-1449)CTA>GTA	p.L483V	SAMD9_uc003umg.2_Missense_Mutation_p.L483V	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	483						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TAAAGATTTAGAGTAGAAATC	0.403													C	92733964	G	C	92733964	3	2	51	1	0	0	0	0	1	0	0	0	13826	933	33	5	3326	5	SAMD9	7	92733964	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	71940893	92733964	66404699	64	40830											
MLL5	55904	broad.mit.edu	37	chr7	104742409	104742409	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	taaacagagaaaaagtttttCtcggagtaggactcacattg	9	6	2	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr7:104742409C>G	uc003vcm.2	+	17	2498	c.1964C>G	c.(1963-1965)TCT>TGT	p.S655C	MLL5_uc010ljc.2_Missense_Mutation_p.S655C|MLL5_uc010lje.1_RNA	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	655					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						AAAAGTTTTTCTCGGAGTAGG	0.413													G	104742409	C	G	104742409	3	3	51	1	0	0	0	0	1	0	0	0	9624	913	32	5	2022	5	MLL5	7	104742409	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	12008445	104742409	54396254	65	40831											
ANKRD7	56311	broad.mit.edu	37	chr7	117876182	117876182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaaggggctgatgtgaatGcttcagataattatcaaagg	12	4	2	4			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr7:117876182G>T	uc003vji.2	+	4	729	c.556G>T	c.(556-558)GCT>TCT	p.A186S		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	186	ANK 4.				male gonad development						0						TGATGTGAATGCTTCAGATAA	0.259													T	117876182	G	T	117876182	3	4	51	1	0	0	0	0	1	0	0	0	686	1319	46	5	570	5	ANKRD7	7	117876182	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	13133773	117876182	41262481	66	40832											
CPA2	1358	broad.mit.edu	37	chr7	129919480	129919480	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatgggtacaaatgtaccaAgttagatgactttgatgagc	10	6	0	4			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr7:129919480A>C	uc003vpq.2	+	9	984	c.965A>C	c.(964-966)AAG>ACG	p.K322T		NM_001869	NP_001860	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic) precursor	322					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					AAATGTACCAAGTTAGATGAC	0.418													C	129919480	A	C	129919480	3	2	51	1	0	0	0	0	1	0	0	0	3790	72	3	5	999	5	CPA2	7	129919480	Missense_Mutation	SNP	A	TCGA-BR-7716-01A-21D-2053-08	12043298	129919480	29219183	67	40833											
BMP1	649	broad.mit.edu	37	chr8	22051982	22051982	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgggggtgatgtgaaaaAggactatggccacattcaat	13	7	1	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr8:22051982A>G	uc003xbg.2	+	11	1566	c.1322A>G	c.(1321-1323)AAG>AGG	p.K441R	BMP1_uc003xba.2_Missense_Mutation_p.K441R|BMP1_uc003xbb.2_Missense_Mutation_p.K441R|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Missense_Mutation_p.K190R|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Missense_Mutation_p.K190R|BMP1_uc011kzc.1_Missense_Mutation_p.K190R|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	441	CUB 2.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GATGTGAAAAAGGACTATGGC	0.587													G	22051982	A	G	22051982	3	3	51	1	0	0	0	0	1	0	0	0	1456	72	3	3	1364	3	BMP1	8	22051982	Missense_Mutation	SNP	A	TCGA-BR-7716-01A-21D-2053-08		22051982	124312040	68	40834											
SOX17	64321	broad.mit.edu	37	chr8	55371726	55371726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaactacaagtaccggcCgcggcggcgcaagcaggtga	13	15	0	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr8:55371726C>T	uc003xsb.3	+	2	620	c.416C>T	c.(415-417)CCG>CTG	p.P139L		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	139					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			AAGTACCGGCCGCGGCGGCGC	0.731													T	55371726	C	T	55371726	3	4	51	1	0	0	0	0	1	0	0	0	14947	652	23	1	422	1	SOX17	8	55371726	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	33319744	55371726	90992296	69	40835											
PREX2	80243	broad.mit.edu	37	chr8	69012077	69012077	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaatatccagttataaaaAggtaagtgttctattgattt	8	3	1	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr8:69012077A>C	uc003xxv.1	+	23	2741	c.2714A>C	c.(2713-2715)AAG>ACG	p.K905T	PREX2_uc003xxu.1_Missense_Mutation_p.K905T|PREX2_uc011lez.1_Missense_Mutation_p.K840T	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	905					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						AGTTATAAAAAGGTAAGTGTT	0.274													C	69012077	A	C	69012077	3	2	51	1	0	0	0	0	1	0	0	0	12477	86	3	5	2804	5	PREX2	8	69012077	Missense_Mutation	SNP	A	TCGA-BR-7716-01A-21D-2053-08	13640351	69012077	77351945	70	40836											
ZFPM2	23414	broad.mit.edu	37	chr8	106815454	106815454	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtaatagtgaatggtggactGaaacaagatgagagacctgc	13	5	0	5			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr8:106815454G>A	uc003ymd.2	+	8	3167	c.3144G>A	c.(3142-3144)CTG>CTA	p.L1048L	ZFPM2_uc011lhs.1_Silent_p.L779L	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	1048					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ATGGTGGACTGAAACAAGATG	0.488													A	106815454	G	A	106815454	2	1	51	1	0	0	0	0	0	0	0	1	17655	1277	45	4		4	ZFPM2	8	106815454	Silent	SNP	G	TCGA-BR-7716-01A-21D-2053-08	37803377	106815454	39548568	71	40837											
TRPS1	7227	broad.mit.edu	37	chr8	116599425	116599425	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccttagagtctttgtctgctCttgggtgccagacacaggcg	12	11	3	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr8:116599425C>A	uc003ynz.2	-	4	2923	c.2464G>T	c.(2464-2466)GAG>TAG	p.E822*	TRPS1_uc011lhy.1_Nonsense_Mutation_p.E826*|TRPS1_uc003yny.2_Nonsense_Mutation_p.E835*|TRPS1_uc010mcy.2_Nonsense_Mutation_p.E822*	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	822					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTGTCTGCTCTTGGGTGCCA	0.587									Langer-Giedion_syndrome				A	116599425	C	A	116599425	4	1	51	1	0	0	0	0	0	1	0	0	16590	922	32	5	1393	5	TRPS1	8	116599425	Nonsense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	9783971	116599425	29764597	72	40838											
KIAA2026	158358	broad.mit.edu	37	chr9	5922408	5922408	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcttaactgatggtgttaaTaagttacttacagaggttac	9	5	1	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr9:5922408T>A	uc003zjq.3	-	8	3804	c.3588A>T	c.(3586-3588)TTA>TTT	p.L1196F	KIAA2026_uc010mht.2_Missense_Mutation_p.L371F	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	1196										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ATGGTGTTAATAAGTTACTTA	0.418													A	5922408	T	A	5922408	3	1	51	1	0	0	0	0	1	0	0	0	8270	1403	49	5	2727	5	KIAA2026	9	5922408	Missense_Mutation	SNP	T	TCGA-BR-7716-01A-21D-2053-08		5922408	135291023	73	40839											
TRPM6	140803	broad.mit.edu	37	chr9	77415356	77415356	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gccatgcgctcattctgcttGaatgccttctccaacaagtc	7	14	3	1	rs147364287		TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr9:77415356G>C	uc004ajl.1	-	17	2290	c.2052C>G	c.(2050-2052)TTC>TTG	p.F684L	TRPM6_uc004ajk.1_Missense_Mutation_p.F679L|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.F62L	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	684	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						CATTCTGCTTGAATGCCTTCT	0.512													C	77415356	G	C	77415356	3	2	51	1	0	0	0	0	1	0	0	0	16587	1281	45	5	4108	5	TRPM6	9	77415356	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	71492948	77415356	63798075	74	40840											
VPS13A	23230	broad.mit.edu	37	chr9	79933226	79933226	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctaaggaaaccatcccagaaGaaacggcttcttctactgca	7	12	2	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr9:79933226G>T	uc004akr.2	+	41	5292	c.5032G>T	c.(5032-5034)GAA>TAA	p.E1678*	VPS13A_uc004akp.3_Nonsense_Mutation_p.E1678*|VPS13A_uc004akq.3_Nonsense_Mutation_p.E1678*|VPS13A_uc004aks.2_Nonsense_Mutation_p.E1639*|VPS13A_uc004akt.2_Nonsense_Mutation_p.E18*|VPS13A_uc010mpo.1_Nonsense_Mutation_p.E274*	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	1678					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						CATCCCAGAAGAAACGGCTTC	0.318													T	79933226	G	T	79933226	4	4	51	1	0	0	0	0	0	1	0	0	17186	943	33	5	5194	5	VPS13A	9	79933226	Nonsense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	2517870	79933226	61280205	75	40841											
KIAA0368	23392	broad.mit.edu	37	chr9	114135651	114135651	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgaatcacactgttccgatCtgtcaggccactcagcaaag	8	13	4	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr9:114135651C>A	uc004bfe.1	-	41	4747	c.4747G>T	c.(4747-4749)GAT>TAT	p.D1583Y		NM_001080398	NP_001073867			KIAA0368 protein												0						CTGTTCCGATCTGTCAGGCCA	0.383													A	114135651	C	A	114135651	3	1	51	1	0	0	0	0	1	0	0	0	8171	913	32	5	1350	5	KIAA0368	9	114135651	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	34202425	114135651	27077780	76	40842											
C9orf84	158401	broad.mit.edu	37	chr9	114464486	114464486	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atattgtctgatgccttctcAtaattcaattcttctagatc	4	9	5	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr9:114464486A>G	uc004bfr.2	-	21	2931	c.2796T>C	c.(2794-2796)TAT>TAC	p.Y932Y	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Silent_p.Y893Y|C9orf84_uc010mug.2_Silent_p.Y843Y	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	932										ovary(2)	2						ATGCCTTCTCATAATTCAATT	0.259													G	114464486	A	G	114464486	2	3	51	1	0	0	0	0	0	0	0	1	2500	224	8	3		3	C9orf84	9	114464486	Silent	SNP	A	TCGA-BR-7716-01A-21D-2053-08	328835	114464486	26748945	77	40843											
DFNB31	25861	broad.mit.edu	37	chr9	117266506	117266506	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgggccagggatttgtcGttgacgcgcagaatctggtc	14	11	1	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr9:117266506G>A	uc004biz.3	-	1	1225	c.576C>T	c.(574-576)AAC>AAT	p.N192N	DFNB31_uc004biy.3_5'Flank|DFNB31_uc004bja.3_Silent_p.N192N|DFNB31_uc004bjb.2_Silent_p.N192N	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	192	PDZ 1.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						GGGATTTGTCGTTGACGCGCA	0.478													A	117266506	G	A	117266506	2	1	51	1	0	0	0	0	0	0	0	1	4455	1136	40	1		1	DFNB31	9	117266506	Silent	SNP	G	TCGA-BR-7716-01A-21D-2053-08	2802020	117266506	23946925	78	40844											
OR1Q1	158131	broad.mit.edu	37	chr9	125377550	125377550	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aacagaatcccccacttcttCtgtgacctctacgctctgat	5	15	4	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr9:125377550C>G	uc011lyy.1	+	1	534	c.534C>G	c.(532-534)TTC>TTG	p.F178L		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q,	178	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CCCACTTCTTCTGTGACCTCT	0.493													G	125377550	C	G	125377550	3	3	51	1	0	0	0	0	1	0	0	0	10971	912	32	5	536	5	OR1Q1	9	125377550	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	8111044	125377550	15835881	79	40845											
SEPHS1	22929	broad.mit.edu	37	chr10	13361306	13361306	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atatttgggggactttatctCtgcacagaaccgagctgctt	10	9	1	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr10:13361306C>G	uc001imk.2	-	9	1374	c.1015G>C	c.(1015-1017)GAG>CAG	p.E339Q	SEPHS1_uc001imh.2_Missense_Mutation_p.E263Q|SEPHS1_uc010qbs.1_Missense_Mutation_p.E291Q|SEPHS1_uc001imi.2_Missense_Mutation_p.E337Q|SEPHS1_uc001imj.2_3'UTR|SEPHS1_uc010qbt.1_Missense_Mutation_p.E272Q	NM_012247	NP_036379	P49903	SPS1_HUMAN	selenophosphate synthetase 1	339					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			skin(1)	1						GACTTTATCTCTGCACAGAAC	0.483													G	13361306	C	G	13361306	3	3	51	1	0	0	0	0	1	0	0	0	14054	922	32	5	167	5	SEPHS1	10	13361306	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08		13361306	122173441	80	40846											
DNMBP	23268	broad.mit.edu	37	chr10	101657908	101657908	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaccgcaaggactgcaTtggttaaaggcactttatct	9	10	1	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr10:101657908T>A	uc001kqj.2	-	9	2947	c.2855A>T	c.(2854-2856)AAT>ATT	p.N952I	DNMBP_uc010qpl.1_5'UTR|DNMBP_uc001kqg.2_Missense_Mutation_p.N240I|DNMBP_uc001kqh.2_Missense_Mutation_p.N584I	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	952	DH.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AAGGACTGCATTGGTTAAAGG	0.443													A	101657908	T	A	101657908	3	1	51	1	0	0	0	0	1	0	0	0	4674	1493	52	5	1914	5	DNMBP	10	101657908	Missense_Mutation	SNP	T	TCGA-BR-7716-01A-21D-2053-08	88296602	101657908	33876839	81	40847											
NFKB2	4791	broad.mit.edu	37	chr10	104157099	104157099	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgtgactaagaagaacAtgatggggactatgatacaa	11	5	0	5			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr10:104157099A>G	uc001kvb.2	+	7	701	c.436A>G	c.(436-438)ATG>GTG	p.M146V	NFKB2_uc001kva.2_Missense_Mutation_p.M146V|NFKB2_uc010qqk.1_Missense_Mutation_p.M146V|NFKB2_uc001kvd.2_Missense_Mutation_p.M146V|NFKB2_uc009xxc.2_Missense_Mutation_p.M146V	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene	146	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(3)	3		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		TAAGAAGAACATGATGGGGAC	0.542			T	IGH@	B-NHL								G	104157099	A	G	104157099	3	3	51	1	0	0	0	0	1	0	0	0	10376	217	8	3	458	3	NFKB2	10	104157099	Missense_Mutation	SNP	A	TCGA-BR-7716-01A-21D-2053-08	2499191	104157099	31377648	82	40848											
AFAP1L2	84632	broad.mit.edu	37	chr10	116064682	116064682	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggctgttcaccagcacgttCaggtaacctgcaggaggaag	13	10	2	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr10:116064682C>T	uc001lbn.2	-	11	1381	c.1080G>A	c.(1078-1080)CTG>CTA	p.L360L	AFAP1L2_uc001lbo.2_Silent_p.L360L|AFAP1L2_uc010qse.1_Silent_p.L413L|AFAP1L2_uc001lbp.2_Silent_p.L388L|AFAP1L2_uc001lbr.1_Silent_p.L360L|AFAP1L2_uc010qsd.1_5'UTR|AFAP1L2_uc001lbq.1_5'Flank	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	KIAA1914 protein isoform 1	360	PH 2.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			ovary(1)|breast(1)	2		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CCAGCACGTTCAGGTAACCTG	0.632													T	116064682	C	T	116064682	2	4	51	1	0	0	0	0	0	0	0	1	355	813	29	4		4	AFAP1L2	10	116064682	Silent	SNP	C	TCGA-BR-7716-01A-21D-2053-08	11907583	116064682	19470065	83	40849											
LRP4	4038	broad.mit.edu	37	chr11	46886049	46886049	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaatcagcagaatactgagGagtccaccaatggcgtagct	10	9	1	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr11:46886049G>A	uc001ndn.3	-	36	5339	c.5193C>T	c.(5191-5193)CTC>CTT	p.L1731L	uc001ndl.2_Intron|LRP4_uc001ndm.3_5'Flank	NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1731	Helical; (Potential).				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		GAATACTGAGGAGTCCACCAA	0.498													A	46886049	G	A	46886049	2	1	51	1	0	0	0	0	0	0	0	1	8959	1161	41	4		4	LRP4	11	46886049	Silent	SNP	G	TCGA-BR-7716-01A-21D-2053-08		46886049	88120467	84	40850											
KBTBD4	55709	broad.mit.edu	37	chr11	47594886	47594886	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccagatcattctcctcccCccctagtaagtagatgatcc	6	15	2	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr11:47594886C>A	uc001nfx.2	-	4	1324	c.1153G>T	c.(1153-1155)GGG>TGG	p.G385W	PTPMT1_uc001nfs.3_3'UTR|PTPMT1_uc001nfv.3_3'UTR|PTPMT1_uc009ylt.2_3'UTR|PTPMT1_uc001nfu.3_3'UTR|NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Missense_Mutation_p.G410W|KBTBD4_uc001nfz.2_Missense_Mutation_p.G401W|KBTBD4_uc001nfy.2_Missense_Mutation_p.G385W	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	385	Kelch 4.									ovary(1)|central_nervous_system(1)	2						TTCTCCTCCCCCCCTAGTAAG	0.522													A	47594886	C	A	47594886	3	1	51	1	0	0	0	0	1	0	0	0	7995	623	22	5	407	5	KBTBD4	11	47594886	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	708837	47594886	87411630	85	40851											
VWCE	220001	broad.mit.edu	37	chr11	61058812	61058812	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagatgccactcccacagccGaaggagcagagggctgagag	14	12	0	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr11:61058812G>A	uc001nra.2	-	3	498	c.219C>T	c.(217-219)TTC>TTT	p.F73F	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	73	EGF-like 1.					extracellular region	calcium ion binding			ovary(1)	1						TCCCACAGCCGAAGGAGCAGA	0.642													A	61058812	G	A	61058812	2	1	51	1	0	0	0	0	0	0	0	1	17242	1049	37	1		1	VWCE	11	61058812	Silent	SNP	G	TCGA-BR-7716-01A-21D-2053-08	13463926	61058812	73947704	86	40852											
DPP3	10072	broad.mit.edu	37	chr11	66249784	66249784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctctatgcctaccacctgtCccgtgccgcctggtacggag	10	17	1	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr11:66249784C>T	uc001oig.1	+	2	175	c.113C>T	c.(112-114)TCC>TTC	p.S38F	DPP3_uc001oif.1_Missense_Mutation_p.S38F|DPP3_uc010rpe.1_Missense_Mutation_p.S57F	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	38					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2						TACCACCTGTCCCGTGCCGCC	0.647													T	66249784	C	T	66249784	3	4	51	1	0	0	0	0	1	0	0	0	4728	855	30	4	115	4	DPP3	11	66249784	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	5190972	66249784	68756732	87	40853											
FAT3	120114	broad.mit.edu	37	chr11	92539570	92539570	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagacattccatcaaatAaaatcatcctgaaagtcagt	5	9	3	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr11:92539570A>G	uc001pdj.3	+	11	9153	c.9136A>G	c.(9136-9138)AAA>GAA	p.K3046E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3046	Cadherin 28.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCATCAAATAAAATCATCCT	0.363										TCGA Ovarian(4;0.039)			G	92539570	A	G	92539570	3	3	51	1	0	0	0	0	1	0	0	0	5691	363	13	3	9178	3	FAT3	11	92539570	Missense_Mutation	SNP	A	TCGA-BR-7716-01A-21D-2053-08	26289786	92539570	42466946	88	40854											
ANKRD49	54851	broad.mit.edu	37	chr11	94231264	94231264	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagtgcggagactcctttctGaaaaggccactcacgtgaac	10	12	2	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr11:94231264G>A	uc001pew.2	+	3	425	c.286G>A	c.(286-288)GAA>AAA	p.E96K	ANKRD49_uc001pex.2_3'UTR|ANKRD49_uc001pey.2_RNA	NM_017704	NP_060174	Q8WVL7	ANR49_HUMAN	fetal globin inducing factor	96	ANK 1.				positive regulation of transcription, DNA-dependent					central_nervous_system(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACTCCTTTCTGAAAAGGCCAC	0.413													A	94231264	G	A	94231264	3	1	51	1	0	0	0	0	1	0	0	0	675	1291	45	4	292	4	ANKRD49	11	94231264	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	1691694	94231264	40775252	89	40855											
MMP27	64066	broad.mit.edu	37	chr11	102573751	102573751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatcccctttgaaatcttgGtgaattttagtggagtgact	9	7	1	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr11:102573751G>A	uc001phd.1	-	3	463	c.440C>T	c.(439-441)ACC>ATC	p.T147I		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	matrix metalloproteinase 27 precursor	147					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TGAAATCTTGGTGAATTTTAG	0.413													A	102573751	G	A	102573751	3	1	51	1	0	0	0	0	1	0	0	0	9664	1261	44	4	1133	4	MMP27	11	102573751	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	8342487	102573751	32432765	90	40856											
OR8B4	283162	broad.mit.edu	37	chr11	124294641	124294641	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aattaaggtgatcaagcccaAgttgcccaccacagtgaaca	8	11	1	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr11:124294641A>C	uc010sak.1	-	1	127	c.127T>G	c.(127-129)TTG>GTG	p.L43V		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ATCAAGCCCAAGTTGCCCACC	0.438													C	124294641	A	C	124294641	3	2	51	1	0	0	0	0	1	0	0	0	11229	69	3	5	804	5	OR8B4	11	124294641	Missense_Mutation	SNP	A	TCGA-BR-7716-01A-21D-2053-08	21720890	124294641	10711875	91	40857											
ARHGAP32	9743	broad.mit.edu	37	chr11	128839750	128839750	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccggggtcatgttatcataTtgggacatgacaggcccttt	12	9	2	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr11:128839750T>C	uc009zcp.2	-	22	5316	c.5316A>G	c.(5314-5316)CAA>CAG	p.Q1772Q	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.Q731Q|ARHGAP32_uc001qez.2_Silent_p.Q1423Q	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1772	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						TGTTATCATATTGGGACATGA	0.522													C	128839750	T	C	128839750	2	2	51	1	0	0	0	0	0	0	0	1	881	1490	52	3		3	ARHGAP32	11	128839750	Silent	SNP	T	TCGA-BR-7716-01A-21D-2053-08	4545109	128839750	6166766	92	40858											
OPCML	4978	broad.mit.edu	37	chr11	132307151	132307151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactttccgcacatcgggcGcagcgacatcgttcaacgcg	10	14	1	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr11:132307151G>A	uc001qgs.2	-	4	679	c.629C>T	c.(628-630)GCG>GTG	p.A210V	OPCML_uc001qgu.2_Missense_Mutation_p.A203V|OPCML_uc010sck.1_Missense_Mutation_p.A210V|OPCML_uc001qgt.2_Missense_Mutation_p.A209V|OPCML_uc010scl.1_Missense_Mutation_p.A169V	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	210	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CACATCGGGCGCAGCGACATC	0.552													A	132307151	G	A	132307151	3	1	51	1	0	0	0	0	1	0	0	0	10874	1087	38	1	424	1	OPCML	11	132307151	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	3467401	132307151	2699365	93	40859											
VWF	7450	broad.mit.edu	37	chr12	6120874	6120874	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcagcccccggtcacagttGacccgatgactcttcagcaa	8	16	4	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr12:6120874G>T	uc001qnn.1	-	34	6001	c.5751C>A	c.(5749-5751)GTC>GTA	p.V1917V	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1917					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	GGTCACAGTTGACCCGATGAC	0.612													T	6120874	G	T	6120874	2	4	51	1	0	0	0	0	0	0	0	1	17243	1277	45	5		5	VWF	12	6120874	Silent	SNP	G	TCGA-BR-7716-01A-21D-2053-08		6120874	127731021	94	40860											
CHD4	1108	broad.mit.edu	37	chr12	6690489	6690489	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggggctgtagatttaaCctccttttctccttctatgc	7	12	3	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr12:6690489C>A	uc001qpo.2	-	32	4911	c.4747G>T	c.(4747-4749)GTT>TTT	p.V1583F	CHD4_uc001qpn.2_Missense_Mutation_p.V1576F|CHD4_uc001qpp.2_Missense_Mutation_p.V1608F|uc001qpq.1_Intron	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1583	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GTAGATTTAACCTCCTTTTCT	0.393													A	6690489	C	A	6690489	3	1	51	1	0	0	0	0	1	0	0	0	3327	507	18	5	1027	5	CHD4	12	6690489	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	569615	6690489	127161406	95	40861											
CD163L1	283316	broad.mit.edu	37	chr12	7531888	7531888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagcctcagctccatatccGatgcatctgaaaccaaatac	5	14	2	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr12:7531888G>A	uc001qsy.2	-	9	2083	c.2057C>T	c.(2056-2058)TCG>TTG	p.S686L	CD163L1_uc010sge.1_Missense_Mutation_p.S696L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	686	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						CTCCATATCCGATGCATCTGA	0.463													A	7531888	G	A	7531888	3	1	51	1	0	0	0	0	1	0	0	0	2968	1059	37	1	2348	1	CD163L1	12	7531888	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	841399	7531888	126320007	96	40862											
CD163	9332	broad.mit.edu	37	chr12	7647956	7647956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaactgtcccagcacagcGgctgcctccacctctaagtc	7	18	2	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr12:7647956G>A	uc001qsz.3	-	6	1269	c.1141C>T	c.(1141-1143)CGC>TGC	p.R381C	CD163_uc001qta.3_Missense_Mutation_p.R381C|CD163_uc009zfw.2_Missense_Mutation_p.R381C	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	381	SRCR 4.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						CCAGCACAGCGGCTGCCTCCA	0.488													A	7647956	G	A	7647956	3	1	51	1	0	0	0	0	1	0	0	0	2967	1116	39	1	2373	1	CD163	12	7647956	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	116068	7647956	126203939	97	40863											
SLCO1B3	28234	broad.mit.edu	37	chr12	21011427	21011427	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggatctaaactacacagacCgaagttaattggaattggtt	9	6	1	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr12:21011427C>A	uc001rek.2	+	4	407	c.281C>A	c.(280-282)CCG>CAG	p.P94Q	SLCO1B3_uc001rel.2_Missense_Mutation_p.P94Q|SLCO1B3_uc010sil.1_Missense_Mutation_p.P94Q|LST-3TM12_uc010sim.1_Missense_Mutation_p.P94Q	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	94	Cytoplasmic (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					CTACACAGACCGAAGTTAATT	0.323													A	21011427	C	A	21011427	3	1	51	1	0	0	0	0	1	0	0	0	14724	652	23	5	291	5	SLCO1B3	12	21011427	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	13363471	21011427	112840468	98	40864											
KRT73	319101	broad.mit.edu	37	chr12	53002163	53002163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagagctgggccagtagccGtaggtgccagcattgctgaa	14	10	0	2	rs114995859	by1000genomes	TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr12:53002163G>A	uc001sas.2	-	9	1475	c.1440C>T	c.(1438-1440)TAC>TAT	p.Y480Y		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	480	Tail.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCAGTAGCCGTAGGTGCCAG	0.642													A	53002163	G	A	53002163	2	1	51	1	0	0	0	0	0	0	0	1	8486	1140	40	1		1	KRT73	12	53002163	Silent	SNP	G	TCGA-BR-7716-01A-21D-2053-08	31990736	53002163	80849732	99	40865											
SRGAP1	57522	broad.mit.edu	37	chr12	64458981	64458981	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagtcccgccttgccacgctCaaaatcgagaatgaagaggt	10	12	1	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr12:64458981C>G	uc010ssp.1	+	8	1163	c.1107C>G	c.(1105-1107)CTC>CTG	p.L369L	SRGAP1_uc001srt.2_Silent_p.L369L|SRGAP1_uc001srv.2_Silent_p.L329L	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	369	Potential.				axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TTGCCACGCTCAAAATCGAGA	0.502													G	64458981	C	G	64458981	2	3	51	1	0	0	0	0	0	0	0	1	15144	813	29	5		5	SRGAP1	12	64458981	Silent	SNP	C	TCGA-BR-7716-01A-21D-2053-08	11456818	64458981	69392914	100	40866											
PPFIA2	8499	broad.mit.edu	37	chr12	81762526	81762526	+	Missense_Mutation	SNP	C	C	G													tttcttctagagcagccattCtttcctttaagtgtagttgt							TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr12:81762526C>G	uc001szo.1	-	13	1621	c.1460G>C	c.(1459-1461)AGA>ACA	p.R487T	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	413										ovary(3)|lung(2)|pancreas(1)	6						AGCAGCCATTCTTTCCTTTAA	0.358													G	81762526	C	G	81762526	3	3	51	1	0	0	0	0	1	0	0	0	12310	913	32	5	2393	5	PPFIA2	12	81762526	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	17303545	81762526	52089369	101	40867	137	2									
PPFIA2	8499	broad.mit.edu	37	chr12	81762535	81762535	+	Missense_Mutation	SNP	A	A	G													gagcagccattctttcctttAagtgtagttgtaggcgttca							TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr12:81762535A>G	uc001szo.1	-	13	1612	c.1451T>C	c.(1450-1452)TTA>TCA	p.L484S	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	410										ovary(3)|lung(2)|pancreas(1)	6						TCTTTCCTTTAAGTGTAGTTG	0.373													G	81762535	A	G	81762535	3	3	51	1	0	0	0	0	1	0	0	0	12310	372	13	3	2402	3	PPFIA2	12	81762535	Missense_Mutation	SNP	A	TCGA-BR-7716-01A-21D-2053-08	9	81762535	52089360	102	40868	137	2									
NAA25	80018	broad.mit.edu	37	chr12	112478294	112478294	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaaaacttacctcaacaaaGaaaactagattttctaaaag	3	8	2	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr12:112478294G>T	uc001ttm.2	-	21	2549	c.2529C>A	c.(2527-2529)TTC>TTA	p.F843L	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.F815L|NAA25_uc009zwa.1_Missense_Mutation_p.F821L	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	843						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						CCTCAACAAAGAAAACTAGAT	0.323													T	112478294	G	T	112478294	3	4	51	1	0	0	0	0	1	0	0	0	10121	933	33	5	405	5	NAA25	12	112478294	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	30715759	112478294	21373601	103	40869											
NAA25	80018	broad.mit.edu	37	chr12	112481431	112481431	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatatgtattgatggtacctGaatatccttctcaataaatc	5	7	1	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr12:112481431G>A	uc001ttm.2	-	18	2268	c.2248C>T	c.(2248-2250)CAG>TAG	p.Q750*	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Nonsense_Mutation_p.Q722*|NAA25_uc009zwa.1_Nonsense_Mutation_p.Q750*	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	750						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						GATGGTACCTGAATATCCTTC	0.398													A	112481431	G	A	112481431	4	1	51	1	0	0	0	0	0	1	0	0	10121	1299	45	4	698	4	NAA25	12	112481431	Nonsense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	3137	112481431	21370464	104	40870											
ZCCHC8	55596	broad.mit.edu	37	chr12	122958310	122958310	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attatcaagaagggcaccttCagtgtttaccggagccaact	9	10	2	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr12:122958310C>T	uc001ucn.2	-	14	1989	c.1858G>A	c.(1858-1860)GAA>AAA	p.E620K	ZCCHC8_uc001ucl.2_Missense_Mutation_p.E231K|ZCCHC8_uc001ucm.2_Missense_Mutation_p.E382K|ZCCHC8_uc009zxp.2_Missense_Mutation_p.E382K|ZCCHC8_uc009zxq.2_Missense_Mutation_p.E382K	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	620						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		AGGGCACCTTCAGTGTTTACC	0.493													T	122958310	C	T	122958310	3	4	51	1	0	0	0	0	1	0	0	0	17591	835	29	4	269	4	ZCCHC8	12	122958310	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	10476879	122958310	10893585	105	40871											
ENOX1	55068	broad.mit.edu	37	chr13	43987028	43987028	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggaagctgggtgatgttcTcaactccacctgcatctacc	11	12	2	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr13:43987028T>C	uc001uza.3	-	4	323	c.23A>G	c.(22-24)GAG>GGG	p.E8G	ENOX1_uc001uzb.3_Missense_Mutation_p.E8G|ENOX1_uc001uzc.3_Missense_Mutation_p.E8G	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	8					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GGTGATGTTCTCAACTCCACC	0.512													C	43987028	T	C	43987028	3	2	51	1	0	0	0	0	1	0	0	0	5126	1551	54	3	1964	3	ENOX1	13	43987028	Missense_Mutation	SNP	T	TCGA-BR-7716-01A-21D-2053-08		43987028	71182850	106	40872											
MYCBP2	23077	broad.mit.edu	37	chr13	77725076	77725076	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgagaaacagggacagctttCacttccacctaaacatggta	8	10	1	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr13:77725076C>A	uc001vkf.2	-	48	6901	c.6810G>T	c.(6808-6810)GTG>GTT	p.V2270V	MYCBP2_uc010aev.2_Silent_p.V1674V	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGACAGCTTTCACTTCCACCT	0.333													A	77725076	C	A	77725076	2	1	51	1	0	0	0	0	0	0	0	1	10018	813	29	5		5	MYCBP2	13	77725076	Silent	SNP	C	TCGA-BR-7716-01A-21D-2053-08	33738048	77725076	37444802	107	40873											
GPC5	2262	broad.mit.edu	37	chr13	92560227	92560227	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttggaaatggaatcaaagcCcagtctggaaatcctgaagt	11	7	2	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr13:92560227C>A	uc010tif.1	+	6	1683	c.1317C>A	c.(1315-1317)GCC>GCA	p.A439A		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	439						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GAATCAAAGCCCAGTCTGGAA	0.388													A	92560227	C	A	92560227	2	1	51	1	0	0	0	0	0	0	0	1	6601	610	22	5		5	GPC5	13	92560227	Silent	SNP	C	TCGA-BR-7716-01A-21D-2053-08	14835151	92560227	22609651	108	40874											
HNRNPC	3183	broad.mit.edu	37	chr14	21680084	21680085	+	Splice_Site	DEL	TT	TT	-													tgaaggtcatctcctttcacTttaatataaacaaaatacta							TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr14:21680083_21680084CTT>C	uc001vzy.3	-	7	807	c.563_splice	c.e7-1	p.L188_splice	HNRNPC_uc001vzw.3_Splice_Site_p.L175_splice|HNRNPC_uc001wad.3_Splice_Site_p.L108_splice|HNRNPC_uc001vzx.3_Intron|HNRNPC_uc001vzz.3_Splice_Site_p.L175_splice|HNRNPC_uc001waa.3_Splice_Site_p.L188_splice|HNRNPC_uc010ail.3_Splice_Site_p.L188_splice|HNRNPC_uc010tlq.2_Splice_Site|HNRNPC_uc001wac.3_Intron|HNRNPC_uc010tlr.2_Splice_Site_p.L53_splice|HNRNPC_uc001wae.3_Splice_Site_p.L175_splice	NM_031314	NP_112604	P07910	HNRPC_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C (C1/C2) (HNRNPC), transcript variant 1, mRNA.	188	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|nucleoplasm	RNA binding|identical protein binding|nucleotide binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		TCTCCTTTCACTTTAATATAAA	0.376													-	21680085	TT	-	21680084	8	5	51	1	0	1	0	1	0	0	1	0	7262	1623	56	0	371	0	HNRNPC	14	21680084	Splice_Site	DEL	TT	TCGA-BR-7716-01A-21D-2053-08		21680084	85669456	109	40875											
VTI1B	10490	broad.mit.edu	37	chr14	68118125	68118125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggctgcgaaagaatttgtAgtaaaccaggcctcccagga	11	9	0	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr14:68118125A>G	uc001xjt.2	-	6	1072	c.676T>C	c.(676-678)TAC>CAC	p.Y226H	ARG2_uc001xjs.2_3'UTR|VTI1B_uc010aqp.2_Missense_Mutation_p.Y165H|VTI1B_uc001xju.2_Missense_Mutation_p.Y185H	NM_006370	NP_006361	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with	226	Helical; Anchor for type IV membrane protein; (Potential).				cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane					0				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		AAGAATTTGTAGTAAACCAGG	0.448													G	68118125	A	G	68118125	3	3	51	1	0	0	0	0	1	0	0	0	17233	420	15	3	26	3	VTI1B	14	68118125	Missense_Mutation	SNP	A	TCGA-BR-7716-01A-21D-2053-08	46438041	68118125	39231415	110	40876											
ADAM20	8748	broad.mit.edu	37	chr14	70990515	70990515	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatcaactccagtattaaaAggattctggcatattccttt	5	9	2	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr14:70990515A>G	uc001xme.2	-	2	1355	c.1110T>C	c.(1108-1110)CCT>CCC	p.P370P		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	320	Peptidase M12B.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CAGTATTAAAAGGATTCTGGC	0.378													G	70990515	A	G	70990515	2	3	51	1	0	0	0	0	0	0	0	1	242	59	3	3		3	ADAM20	14	70990515	Silent	SNP	A	TCGA-BR-7716-01A-21D-2053-08	2872390	70990515	36359025	111	40877											
SPTLC2	9517	broad.mit.edu	37	chr14	78043230	78043230	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgtaggaacccatgtttaTaacaccctttattatattcc	5	9	0	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr14:78043230T>C	uc001xub.2	-	4	699	c.511A>G	c.(511-513)ATA>GTA	p.I171V		NM_004863	NP_004854	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base	171						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			upper_aerodigestive_tract(1)|ovary(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCCATGTTTATAACACCCTTT	0.368													C	78043230	T	C	78043230	3	2	51	1	0	0	0	0	1	0	0	0	15123	1406	49	3	1213	3	SPTLC2	14	78043230	Missense_Mutation	SNP	T	TCGA-BR-7716-01A-21D-2053-08	7052715	78043230	29306310	112	40878											
PSMC1	5700	broad.mit.edu	37	chr14	90736591	90736591	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgcctgatgaaaagacgaaGaagcgcatctttcagattca	9	9	3	5			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr14:90736591G>C	uc001xyf.2	+	10	1131	c.1083G>C	c.(1081-1083)AAG>AAC	p.K361N	PSMC1_uc001xyg.2_Missense_Mutation_p.K288N|PSMC1_uc001xyh.2_Missense_Mutation_p.K288N	NM_002802	NP_002793	P62191	PRS4_HUMAN	proteasome 26S ATPase subunit 1	361					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		AAAAGACGAAGAAGCGCATCT	0.502													C	90736591	G	C	90736591	3	2	51	1	0	0	0	0	1	0	0	0	12685	933	33	5	1121	5	PSMC1	14	90736591	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	12693361	90736591	16612949	113	40879											
HSP90AA1	3320	broad.mit.edu	37	chr14	102552368	102552368	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacaatagtgagagttcgatCttgtttgttcggtataaggt	11	5	1	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr14:102552368C>A	uc001yku.3	-	3	446	c.256G>T	c.(256-258)GAT>TAT	p.D86Y	HSP90AA1_uc001ykv.3_Missense_Mutation_p.D208Y|HSP90AA1_uc001ykw.1_Intron|HSP90AA1_uc001ykx.1_Missense_Mutation_p.D75Y	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	86				D -> G (in Ref. 4; CAI64495 and 6; BAG51711).	axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	AGAGTTCGATCTTGTTTGTTC	0.418													A	102552368	C	A	102552368	3	1	51	1	0	0	0	0	1	0	0	0	7401	913	32	5	1978	5	HSP90AA1	14	102552368	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	11815777	102552368	4797172	114	40880											
AHNAK2	113146	broad.mit.edu	37	chr14	105411904	105411904	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcacatccttgtcggccaggGacaggtccccctccagccgt	10	17	1	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr14:105411904G>C	uc010axc.1	-	7	10004	c.9884C>G	c.(9883-9885)TCC>TGC	p.S3295C	AHNAK2_uc001ypx.2_Missense_Mutation_p.S3195C	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3295						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)			GTCGGCCAGGGACAGGTCCCC	0.617													C	105411904	G	C	105411904	3	2	51	1	0	0	0	0	1	0	0	0	415	1174	41	5	7507	5	AHNAK2	14	105411904	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	2859536	105411904	1937636	115	40881											
AHNAK2	113146	broad.mit.edu	37	chr14	105412399	105412399	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcacatccttgtcggccaggGacaggtccccctccagccgt	10	17	1	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr14:105412399G>C	uc010axc.1	-	7	9509	c.9389C>G	c.(9388-9390)TCC>TGC	p.S3130C	AHNAK2_uc001ypx.2_Missense_Mutation_p.S3030C	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3130						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)			GTCGGCCAGGGACAGGTCCCC	0.617													C	105412399	G	C	105412399	3	2	51	1	0	0	0	0	1	0	0	0	415	1174	41	5	8002	5	AHNAK2	14	105412399	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	495	105412399	1937141	116	40882											
SNAP23	8773	broad.mit.edu	37	chr15	42823658	42823658	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attgccaatgccagagcaaaGaaactcattgacagctaaag	8	9	1	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr15:42823658G>A	uc001zpz.1	+	8	709	c.618G>A	c.(616-618)AAG>AAA	p.K206K	SNAP23_uc001zqa.1_Silent_p.K153K	NM_003825	NP_003816	O00161	SNP23_HUMAN	synaptosomal-associated protein 23 isoform	206	t-SNARE coiled-coil homology 2.				cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting	azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome	protein binding				0		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		CCAGAGCAAAGAAACTCATTG	0.348													A	42823658	G	A	42823658	2	1	51	1	0	0	0	0	0	0	0	1	14829	933	33	4		4	SNAP23	15	42823658	Silent	SNP	G	TCGA-BR-7716-01A-21D-2053-08		42823658	59707734	117	40883											
TLN2	83660	broad.mit.edu	37	chr15	62939637	62939637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggtgcctgaggcacaaaCtgggcaaggtaggtcatggg	17	8	1	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr15:62939637C>T	uc002alb.3	+	1	128	c.128C>T	c.(127-129)ACT>ATT	p.T43I	MGC15885_uc010uib.1_5'Flank|MGC15885_uc002ala.3_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	43					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GAGGCACAAACTGGGCAAGGT	0.483													T	62939637	C	T	62939637	3	4	51	1	0	0	0	0	1	0	0	0	15945	565	20	4	130	4	TLN2	15	62939637	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	20115979	62939637	39591755	118	40884											
AKAP13	11214	broad.mit.edu	37	chr15	86287028	86287028	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagaaggagaaaaaaaagaaGaacaaaaccagccgctctca	8	8	1	4	rs35204082	byFrequency	TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr15:86287028G>C	uc002blv.1	+	36	8534	c.8364G>C	c.(8362-8364)AAG>AAC	p.K2788N	AKAP13_uc002blu.1_Missense_Mutation_p.K2792N|AKAP13_uc002blw.1_Missense_Mutation_p.K1253N|AKAP13_uc002blx.1_Missense_Mutation_p.K1033N	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2788	Interaction with ESR1.|Poly-Lys.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						AAAAAAAGAAGAACAAAACCA	0.537													C	86287028	G	C	86287028	3	2	51	1	0	0	0	0	1	0	0	0	449	933	33	5	8572	5	AKAP13	15	86287028	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	23347391	86287028	16244364	119	40885											
MEFV	4210	broad.mit.edu	37	chr16	3293246	3293246	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttgaaggggcccagagaaAgagcagctggcgaatgtata	16	6	0	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr16:3293246A>G	uc002cun.1	-	10	2281	c.2241T>C	c.(2239-2241)TCT>TCC	p.S747S		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	747	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	GCCCAGAGAAAGAGCAGCTGG	0.542													G	3293246	A	G	3293246	2	3	51	1	0	0	0	0	0	0	0	1	9459	59	3	3		3	MEFV	16	3293246	Silent	SNP	A	TCGA-BR-7716-01A-21D-2053-08		3293246	87061507	120	40886											
ZNF75A	7627	broad.mit.edu	37	chr16	3367641	3367641	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccatataaatgttcatgGtgtgggaaaagcttcagtca	9	6	3	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr16:3367641G>A	uc002cut.3	+	6	1189	c.663G>A	c.(661-663)TGG>TGA	p.W221*	ZNF75A_uc002cuv.3_RNA	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	221	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1						AATGTTCATGGTGTGGGAAAA	0.343													A	3367641	G	A	3367641	4	1	51	1	0	0	0	0	0	1	0	0	18130	1270	44	4	673	4	ZNF75A	16	3367641	Nonsense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	74395	3367641	86987112	121	40887											
PMM2	5373	broad.mit.edu	37	chr16	8941596	8941596	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tccagggtggcaatgaccatGagatcttcacagaccccaga	10	12	2	4			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr16:8941596G>C	uc002czf.3	+	8	725	c.655G>C	c.(655-657)GAG>CAG	p.E219Q	PMM2_uc010uyf.1_RNA|PMM2_uc010uyg.1_Missense_Mutation_p.E136Q|PMM2_uc010uyh.1_Missense_Mutation_p.E94Q|PMM2_uc010buj.2_RNA|PMM2_uc010uyi.1_Missense_Mutation_p.E72Q|PMM2_uc002czg.1_5'Flank	NM_000303	NP_000294	O15305	PMM2_HUMAN	phosphomannomutase 2	219					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity			ovary(1)	1						CAATGACCATGAGATCTTCAC	0.577													C	8941596	G	C	8941596	3	2	51	1	0	0	0	0	1	0	0	0	12137	1291	45	5	685	5	PMM2	16	8941596	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	5573955	8941596	81413157	122	40888											
USP7	7874	broad.mit.edu	37	chr16	8987952	8987952	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctagccaaggccgaggatgaGacatattacctggtggggat	14	8	0	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr16:8987952G>A	uc002czl.2	-	31	3411	c.3212C>T	c.(3211-3213)TCT>TTT	p.S1071F	USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.S972F|USP7_uc002czk.2_Missense_Mutation_p.S1055F	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	1071					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						CCGAGGATGAGACATATTACC	0.532													A	8987952	G	A	8987952	3	1	51	1	0	0	0	0	1	0	0	0	17085	942	33	4	100	4	USP7	16	8987952	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	46356	8987952	81366801	123	40889											
USP7	7874	broad.mit.edu	37	chr16	9009127	9009127	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttactatttttctttcctttGatacttagctggatatcata	4	7	2	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr16:9009127G>C	uc002czl.2	-	10	1261	c.1062C>G	c.(1060-1062)ATC>ATG	p.I354M	USP7_uc010uyk.1_Missense_Mutation_p.I255M|USP7_uc010uyj.1_Missense_Mutation_p.I255M|USP7_uc002czk.2_Missense_Mutation_p.I338M|USP7_uc010uyl.1_RNA	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	354					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						TCTTTCCTTTGATACTTAGCT	0.313													C	9009127	G	C	9009127	3	2	51	1	0	0	0	0	1	0	0	0	17085	1280	45	5	2334	5	USP7	16	9009127	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	21175	9009127	81345626	124	40890											
USP7	7874	broad.mit.edu	37	chr16	9017104	9017104	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcagcattgcactggagaaaGaatcctacgcttttttggtg	10	8	1	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr16:9017104G>T	uc002czl.2	-	3	550	c.351C>A	c.(349-351)TTC>TTA	p.F117L	USP7_uc010uyk.1_Missense_Mutation_p.F18L|USP7_uc010uyj.1_Missense_Mutation_p.F18L|USP7_uc002czk.2_Missense_Mutation_p.F101L|USP7_uc010uyl.1_RNA	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	117	Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.|Interaction with TSPYL5.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						ACTGGAGAAAGAATCCTACGC	0.418													T	9017104	G	T	9017104	3	4	51	1	0	0	0	0	1	0	0	0	17085	933	33	5	3073	5	USP7	16	9017104	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	7977	9017104	81337649	125	40891											
CDIPT	10423	broad.mit.edu	37	chr16	29871964	29871964	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtcgatcatcttgtgactctCactgcctcggaccacagaac	8	14	3	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr16:29871964C>G	uc002dum.2	-	4	752	c.352G>C	c.(352-354)GAG>CAG	p.E118Q	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CDIPT_uc002duk.2_Missense_Mutation_p.E142Q|CDIPT_uc002dul.2_Missense_Mutation_p.E90Q|CDIPT_uc002dun.2_Missense_Mutation_p.E73Q	NM_006319	NP_006310	O14735	CDIPT_HUMAN	CDP-diacylglycerol-inositol	118						endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity				0						TTGTGACTCTCACTGCCTCGG	0.488													G	29871964	C	G	29871964	3	3	51	1	0	0	0	0	1	0	0	0	3123	835	29	5	301	5	CDIPT	16	29871964	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	20854860	29871964	60482789	126	40892											
SF3B3	23450	broad.mit.edu	37	chr16	70578362	70578362	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tagctgatctggccaatgaaGatactccacagttgtatgtg	10	8	1	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr16:70578362G>A	uc002ezf.2	+	10	1466	c.1255G>A	c.(1255-1257)GAT>AAT	p.D419N		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	419					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				GGCCAATGAAGATACTCCACA	0.433													A	70578362	G	A	70578362	3	1	51	1	0	0	0	0	1	0	0	0	14152	942	33	4	1289	4	SF3B3	16	70578362	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	40706398	70578362	19776391	127	40893											
PMFBP1	83449	broad.mit.edu	37	chr16	72158686	72158686	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccttatcgtcctcaaggaGgttctcttttaaggcggcca	9	12	2	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr16:72158686G>T	uc002fcc.3	-	17	2756	c.2584C>A	c.(2584-2586)CTC>ATC	p.L862I	PMFBP1_uc002fcd.2_Missense_Mutation_p.L857I|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.L712I|PMFBP1_uc010cgo.1_Missense_Mutation_p.L153I	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	862	Potential.									ovary(2)	2		Ovarian(137;0.179)				TCCTCAAGGAGGTTCTCTTTT	0.572											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	72158686	G	T	72158686	3	4	51	1	0	0	0	0	1	0	0	0	12134	1000	35	5	534	5	PMFBP1	16	72158686	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	1580324	72158686	18196067	128	40894											
C16orf7	9605	broad.mit.edu	37	chr16	89779059	89779059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggggtctagccgcgccattCgggcctcatacgcagccttc	12	15	2	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr16:89779059C>T	uc002fom.1	-	5	622	c.497G>A	c.(496-498)CGA>CAA	p.R166Q	C16orf7_uc002fol.1_Missense_Mutation_p.R96Q|uc002fon.1_Intron	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	166					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CCGCGCCATTCGGGCCTCATA	0.652													T	89779059	C	T	89779059	3	4	51	1	0	0	0	0	1	0	0	0	1828	884	31	1	1442	1	C16orf7	16	89779059	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	17620373	89779059	575694	129	40895											
CYB5D2	124936	broad.mit.edu	37	chr17	4058071	4058071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggaggccaacaaactacaGctgcaagagaagcagacatt	10	9	0	2	rs139874723		TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr17:4058071G>A	uc002fxm.3	+	3	1083	c.495G>A	c.(493-495)CAG>CAA	p.Q165Q	CYB5D2_uc010cko.2_Silent_p.Q53Q|CYB5D2_uc002fxl.3_Silent_p.Q53Q	NM_144611	NP_653212	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	165					nervous system development	extracellular region	heme binding			large_intestine(2)|ovary(1)	3						ACAAACTACAGCTGCAAGAGA	0.627													A	4058071	G	A	4058071	2	1	51	1	0	0	0	0	0	0	0	1	4125	962	34	2		2	CYB5D2	17	4058071	Silent	SNP	G	TCGA-BR-7716-01A-21D-2053-08		4058071	77137139	130	40896											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576	by1000genomes	TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr17:7577120C>T	uc002gim.2	-	8	1012	c.818G>A	c.(817-819)CGT>CAT	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577120	C	T	7577120	3	4	51	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	3519049	7577120	73618090	131	40897											
RAI1	10743	broad.mit.edu	37	chr17	17696366	17696366	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaattacaggcagccgagtcAggccgggctaagctgcgacc	14	12	1	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr17:17696366A>T	uc002grm.2	+	3	573	c.104A>T	c.(103-105)CAG>CTG	p.Q35L	RAI1_uc002grn.1_Missense_Mutation_p.Q35L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	35						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CAGCCGAGTCAGGCCGGGCTA	0.582													T	17696366	A	T	17696366	3	4	51	1	0	0	0	0	1	0	0	0	13007	188	7	5	106	5	RAI1	17	17696366	Missense_Mutation	SNP	A	TCGA-BR-7716-01A-21D-2053-08	10119246	17696366	63498844	132	40898											
CACNA1G	8913	broad.mit.edu	37	chr17	48676957	48676957	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccaggagagccaggatgaaGaggagagctcagaagaggag	18	6	1	6			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr17:48676957G>A	uc002irk.1	+	17	3799	c.3427G>A	c.(3427-3429)GAG>AAG	p.E1143K	CACNA1G_uc002iri.1_Missense_Mutation_p.E1143K|CACNA1G_uc002irj.1_Missense_Mutation_p.E1120K|CACNA1G_uc002irl.1_Missense_Mutation_p.E1120K|CACNA1G_uc002irm.1_Missense_Mutation_p.E1120K|CACNA1G_uc002irn.1_Missense_Mutation_p.E1120K|CACNA1G_uc002iro.1_Missense_Mutation_p.E1120K|CACNA1G_uc002irp.1_Missense_Mutation_p.E1143K|CACNA1G_uc002irq.1_Missense_Mutation_p.E1120K|CACNA1G_uc002irr.1_Missense_Mutation_p.E1143K|CACNA1G_uc002irs.1_Missense_Mutation_p.E1143K|CACNA1G_uc002irt.1_Missense_Mutation_p.E1143K|CACNA1G_uc002irv.1_Missense_Mutation_p.E1143K|CACNA1G_uc002irw.1_Missense_Mutation_p.E1120K|CACNA1G_uc002iru.1_Missense_Mutation_p.E1120K|CACNA1G_uc002irx.1_Missense_Mutation_p.E1056K|CACNA1G_uc002iry.1_Missense_Mutation_p.E1056K|CACNA1G_uc002irz.1_Missense_Mutation_p.E1056K|CACNA1G_uc002isa.1_Missense_Mutation_p.E1056K|CACNA1G_uc002isb.1_Missense_Mutation_p.E1056K|CACNA1G_uc002isc.1_Missense_Mutation_p.E1056K|CACNA1G_uc002isd.1_Missense_Mutation_p.E1056K|CACNA1G_uc002ise.1_Missense_Mutation_p.E1056K|CACNA1G_uc002isf.1_Missense_Mutation_p.E1056K|CACNA1G_uc002isg.1_Missense_Mutation_p.E1056K|CACNA1G_uc002ish.1_Missense_Mutation_p.E1056K|CACNA1G_uc002isi.1_Missense_Mutation_p.E1033K|CACNA1G_uc002isj.2_5'UTR	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1143	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCAGGATGAAGAGGAGAGCTC	0.662													A	48676957	G	A	48676957	3	1	51	1	0	0	0	0	1	0	0	0	2544	943	33	4	3493	4	CACNA1G	17	48676957	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	30980591	48676957	32518253	133	40899											
HELZ	9931	broad.mit.edu	37	chr17	65147323	65147323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggacagtctttacccagCgatttctgaaatataccctg	9	10	2	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr17:65147323C>T	uc010wqk.1	-	18	2385	c.2198G>A	c.(2197-2199)CGC>CAC	p.R733H	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.R732H	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTTTACCCAGCGATTTCTGAA	0.343													T	65147323	C	T	65147323	3	4	51	1	0	0	0	0	1	0	0	0	7049	768	27	1	3697	1	HELZ	17	65147323	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	16470366	65147323	16047887	134	40900											
CETN1	1068	broad.mit.edu	37	chr18	580813	580813	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtggccaacgagctgggggaGaacctcacggatgaggagct	17	9	1	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr18:580813G>A	uc002kko.1	+	1	447	c.405G>A	c.(403-405)GAG>GAA	p.E135E		NM_004066	NP_004057	Q12798	CETN1_HUMAN	centrin 1	135	EF-hand 3.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			upper_aerodigestive_tract(1)|ovary(1)	2						AGCTGGGGGAGAACCTCACGG	0.537													A	580813	G	A	580813	2	1	51	1	0	0	0	0	0	0	0	1	3274	933	33	4		4	CETN1	18	580813	Silent	SNP	G	TCGA-BR-7716-01A-21D-2053-08		580813	77496435	135	40901											
PTPRM	5797	broad.mit.edu	37	chr18	8394510	8394510	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtgggacgttctgcgccatCagcatcgtatgtgagatgct	13	9	2	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr18:8394510C>T	uc002knn.3	+	30	4709	c.4206C>T	c.(4204-4206)ATC>ATT	p.I1402I	PTPRM_uc010dkv.2_Silent_p.I1415I|PTPRM_uc010wzl.1_Silent_p.I1189I	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1402	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				TCTGCGCCATCAGCATCGTAT	0.542													T	8394510	C	T	8394510	2	4	51	1	0	0	0	0	0	0	0	1	12806	816	29	4		4	PTPRM	18	8394510	Silent	SNP	C	TCGA-BR-7716-01A-21D-2053-08	7813697	8394510	69682738	136	40902											
ZNF521	25925	broad.mit.edu	37	chr18	22806993	22806993	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacctgctccatgtggttcaTgagggaggtctcctctacga	11	12	3	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr18:22806993T>A	uc002kvk.2	-	4	1136	c.889A>T	c.(889-891)ATG>TTG	p.M297L	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.M297L|ZNF521_uc002kvl.2_Missense_Mutation_p.M77L	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	297	C2H2-type 7.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ATGTGGTTCATGAGGGAGGTC	0.542			T	PAX5	ALL								A	22806993	T	A	22806993	3	1	51	1	0	0	0	0	1	0	0	0	17962	1464	51	5	3066	5	ZNF521	18	22806993	Missense_Mutation	SNP	T	TCGA-BR-7716-01A-21D-2053-08	14412483	22806993	55270255	137	40903											
NOL4	8715	broad.mit.edu	37	chr18	31537439	31537439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgcttagagattgggaCcattcggtccaagttttcat	12	8	1	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr18:31537439C>T	uc010dmi.2	-	8	1508	c.1279G>A	c.(1279-1281)GTC>ATC	p.V427I	NOL4_uc010xbs.1_Missense_Mutation_p.V142I|NOL4_uc002kxr.3_Intron|NOL4_uc010xbt.1_Missense_Mutation_p.V353I|NOL4_uc010dmh.2_Intron|NOL4_uc010xbu.1_Intron|NOL4_uc002kxt.3_Intron|NOL4_uc010xbv.1_Intron	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	427						nucleolus	RNA binding			ovary(3)	3						GAGATTGGGACCATTCGGTCC	0.483													T	31537439	C	T	31537439	3	4	51	1	0	0	0	0	1	0	0	0	10524	507	18	4	653	4	NOL4	18	31537439	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	8730446	31537439	46539809	138	40904											
MUC16	94025	broad.mit.edu	37	chr19	9061107	9061107	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtcatttctgctgatcctGtcgtggtgaggggagtagaa	15	6	2	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:9061107G>T	uc002mkp.2	-	3	26543	c.26339C>A	c.(26338-26340)ACA>AAA	p.T8780K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8782	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGCTGATCCTGTCGTGGTGAG	0.507													T	9061107	G	T	9061107	3	4	51	1	0	0	0	0	1	0	0	0	9973	1377	48	5	17512	5	MUC16	19	9061107	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08		9061107	50067876	139	40905											
DNMT1	1786	broad.mit.edu	37	chr19	10270586	10270586	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccgcactgaatgcactTgggagggtgggtctgtggga	17	9	1	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:10270586T>C	uc002mng.2	-	15	1234	c.1054A>G	c.(1054-1056)AAG>GAG	p.K352E	DNMT1_uc010xlc.1_Missense_Mutation_p.K368E|DNMT1_uc002mnh.2_Missense_Mutation_p.K247E|DNMT1_uc010xld.1_Missense_Mutation_p.K352E	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	352	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TGAATGCACTTGGGAGGGTGG	0.617													C	10270586	T	C	10270586	3	2	51	1	0	0	0	0	1	0	0	0	4675	1821	63	3	3900	3	DNMT1	19	10270586	Missense_Mutation	SNP	T	TCGA-BR-7716-01A-21D-2053-08	1209479	10270586	48858397	140	40906											
ZNF492	57615	broad.mit.edu	37	chr19	22847879	22847879	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accttactacacataagatgAttcatactggagagaaaccc	6	10	1	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:22847879A>T	uc002nqw.3	+	4	1652	c.1408A>T	c.(1408-1410)ATT>TTT	p.I470F		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	470	C2H2-type 12; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ACATAAGATGATTCATACTGG	0.373													T	22847879	A	T	22847879	3	4	51	1	0	0	0	0	1	0	0	0	17940	333	12	5	1418	5	ZNF492	19	22847879	Missense_Mutation	SNP	A	TCGA-BR-7716-01A-21D-2053-08	12577293	22847879	36281104	141	40907											
ZNF599	148103	broad.mit.edu	37	chr19	35251301	35251301	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgggggtttgttcctggcctCaagttcccttcctgaatttt	10	10	1	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:35251301C>G	uc010edn.1	-	4	793	c.405G>C	c.(403-405)TTG>TTC	p.L135F	ZNF599_uc010edm.1_Missense_Mutation_p.L98F	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	zinc finger protein 599	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTCCTGGCCTCAAGTTCCCTT	0.448													G	35251301	C	G	35251301	3	3	51	1	0	0	0	0	1	0	0	0	18026	825	29	5	1365	5	ZNF599	19	35251301	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	12403422	35251301	23877682	142	40908											
LSR	51599	broad.mit.edu	37	chr19	35741220	35741220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctcctcttgccctcagctCctgccagggccatccaggtg	9	18	3	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:35741220C>T	uc002nyl.2	+	2	479	c.256C>T	c.(256-258)CCT>TCT	p.P86S	LSR_uc002nym.2_Missense_Mutation_p.P86S|LSR_uc002nyn.2_Missense_Mutation_p.P86S|LSR_uc002nyo.2_Missense_Mutation_p.P86S|LSR_uc010xsr.1_Missense_Mutation_p.P86S|LSR_uc002nyp.2_Intron	NM_205834	NP_991403	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	86	Extracellular (Potential).|Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCCCTCAGCTCCTGCCAGGGC	0.597													T	35741220	C	T	35741220	3	4	51	1	0	0	0	0	1	0	0	0	9064	855	30	4	262	4	LSR	19	35741220	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	489919	35741220	23387763	143	40909											
TMEM147	10430	broad.mit.edu	37	chr19	36037609	36037609	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcgtggatgtggcagacctGataggtctaaaccttgtcat	12	8	2	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:36037609G>T	uc002oaj.1	+	4	340	c.243G>T	c.(241-243)CTG>CTT	p.L81L	uc010eec.1_5'Flank|uc002oag.2_5'Flank|TMEM147_uc002oai.1_Silent_p.L32L|TMEM147_uc002oak.1_5'UTR	NM_032635	NP_116024	Q9BVK8	TM147_HUMAN	transmembrane protein 147	81						endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGGCAGACCTGATAGGTCTAA	0.562													T	36037609	G	T	36037609	2	4	51	1	0	0	0	0	0	0	0	1	16058	1277	45	5		5	TMEM147	19	36037609	Silent	SNP	G	TCGA-BR-7716-01A-21D-2053-08	296389	36037609	23091374	144	40910											
ERF	2077	broad.mit.edu	37	chr19	42753761	42753761	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccgagaagagggaagatgaaGatgaagagcaggctggtggt	18	4	0	7			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:42753761G>A	uc002ote.3	-	4	661	c.503C>T	c.(502-504)TCT>TTT	p.S168F	ERF_uc002otd.3_5'UTR	NM_006494	NP_006485	P50548	ERF_HUMAN	Ets2 repressor factor	168	Poly-Ser.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4		Prostate(69;0.00682)				GGAAGATGAAGATGAAGAGCA	0.657													A	42753761	G	A	42753761	3	1	51	1	0	0	0	0	1	0	0	0	5221	942	33	4	1147	4	ERF	19	42753761	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	6716152	42753761	16375222	145	40911											
PLAUR	5329	broad.mit.edu	37	chr19	44174251	44174251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggagcagcagcagcagcgGcagcagcggcgggtgaccca	18	12	0	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:44174251G>A	uc002oxf.1	-	1	252	c.22C>T	c.(22-24)CCG>TCG	p.P8S	PLAUR_uc002oxd.1_Missense_Mutation_p.P8S|PLAUR_uc002oxe.1_5'Flank|PLAUR_uc002oxg.1_Missense_Mutation_p.P8S	NM_002659	NP_002650	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	8					attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			ovary(1)	1		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	agcagcagcggcagcagcggc	0.562													A	44174251	G	A	44174251	3	1	51	1	0	0	0	0	1	0	0	0	12023	1203	42	2	1109	2	PLAUR	19	44174251	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	1420490	44174251	14954732	146	40912											
C19orf61	56006	broad.mit.edu	37	chr19	44242339	44242339	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttgcggtcattattgatgaGatggtctaggatagaagggc	14	4	2	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:44242339G>C	uc002oxj.2	-	8	1187	c.844C>G	c.(844-846)CTC>GTC	p.L282V	C19orf61_uc002oxk.2_Missense_Mutation_p.L282V|C19orf61_uc010eiy.1_Missense_Mutation_p.L282V	NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN	SMG9 protein	282					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding				0		Prostate(69;0.0352)				TTATTGATGAGATGGTCTAGG	0.502													C	44242339	G	C	44242339	3	2	51	1	0	0	0	0	1	0	0	0	1943	942	33	5	746	5	C19orf61	19	44242339	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	68088	44242339	14886644	147	40913											
ZNF225	7768	broad.mit.edu	37	chr19	44635941	44635941	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtctttcaagacatgtgCgagtccacagtggagagaca	12	9	2	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:44635941C>T	uc002oyj.1	+	5	1417	c.1174C>T	c.(1174-1176)CGA>TGA	p.R392*	ZNF225_uc010eje.1_Nonsense_Mutation_p.R309*|ZNF225_uc010ejf.1_Nonsense_Mutation_p.R392*	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	392	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				AAGACATGTGCGAGTCCACAG	0.428													T	44635941	C	T	44635941	4	4	51	1	0	0	0	0	0	1	0	0	17776	760	27	1	1188	1	ZNF225	19	44635941	Nonsense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	393602	44635941	14493042	148	40914											
ZNF229	7772	broad.mit.edu	37	chr19	44933034	44933034	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tctggtgaatgagaagccctGagctgtaactgaagcctttg	12	8	1	4			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:44933034G>C	uc002oze.1	-	6	2356	c.1922C>G	c.(1921-1923)TCA>TGA	p.S641*	ZNF229_uc010ejk.1_Nonsense_Mutation_p.S295*|ZNF229_uc010ejl.1_Nonsense_Mutation_p.S635*	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	641	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)				GAGAAGCCCTGAGCTGTAACT	0.498													C	44933034	G	C	44933034	4	2	51	1	0	0	0	0	0	1	0	0	17779	1294	45	5	559	5	ZNF229	19	44933034	Nonsense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	297093	44933034	14195949	149	40915											
SULT2A1	6822	broad.mit.edu	37	chr19	48374741	48374741	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgggaacagctctcgaggaaGatctgccatcttctcttgga	11	10	4	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:48374741G>A	uc002phr.2	-	6	969	c.829C>T	c.(829-831)CTT>TTT	p.L277F		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	bile-salt sulfotransferase 2A1	277					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			ovary(1)|pancreas(1)	2		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		TCTCGAGGAAGATCTGCCATC	0.443													A	48374741	G	A	48374741	3	1	51	1	0	0	0	0	1	0	0	0	15378	942	33	4	32	4	SULT2A1	19	48374741	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	3441707	48374741	10754242	150	40916											
PRKCG	5582	broad.mit.edu	37	chr19	54403920	54403920	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agggacacatcaagatcactGactttggcatgtgtaaggag	12	7	2	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:54403920G>A	uc002qcq.1	+	14	1774	c.1492G>A	c.(1492-1494)GAC>AAC	p.D498N	PRKCG_uc010yeg.1_Missense_Mutation_p.D498N|PRKCG_uc010yeh.1_Missense_Mutation_p.D385N	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	498	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CAAGATCACTGACTTTGGCAT	0.572													A	54403920	G	A	54403920	3	1	51	1	0	0	0	0	1	0	0	0	12512	1290	45	4	1546	4	PRKCG	19	54403920	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	6029179	54403920	4725063	151	40917											
DUXA	503835	broad.mit.edu	37	chr19	57666681	57666681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcttcttgttctaaggaCgccacaggttccctttttct	7	12	4	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:57666681C>T	uc002qoa.1	-	5	543	c.498G>A	c.(496-498)GCG>GCA	p.A166A		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	double homeobox A	166						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		GTTCTAAGGACGCCACAGGTT	0.428													T	57666681	C	T	57666681	2	4	51	1	0	0	0	0	0	0	0	1	4834	523	19	1		1	DUXA	19	57666681	Silent	SNP	C	TCGA-BR-7716-01A-21D-2053-08	3262761	57666681	1462302	152	40918											
SIRPA	140885	broad.mit.edu	37	chr20	1918035	1918035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcctgctccccaggctgcgGagcccaacaaccacacggag	11	17	0	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr20:1918035G>A	uc002wfq.2	+	9	1696	c.1336G>A	c.(1336-1338)GAG>AAG	p.E446K	SIRPA_uc010zps.1_Missense_Mutation_p.E426K|SIRPA_uc002wfr.2_Missense_Mutation_p.E446K|SIRPA_uc002wfs.2_Missense_Mutation_p.E446K|SIRPA_uc002wft.2_Missense_Mutation_p.E450K	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN	signal-regulatory protein alpha precursor	446	Cytoplasmic (Potential).				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			ovary(1)	1				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CCAGGCTGCGGAGCCCAACAA	0.552													A	1918035	G	A	1918035	3	1	51	1	0	0	0	0	1	0	0	0	14332	1175	41	4	1366	4	SIRPA	20	1918035	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08		1918035	61107485	153	40919											
TRMT6	51605	broad.mit.edu	37	chr20	5924624	5924624	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggttctcttgcataatacAtaattgaaagaatacgggtg	9	6	1	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr20:5924624A>T	uc002wmh.1	-	5	634	c.512T>A	c.(511-513)ATG>AAG	p.M171K	TRMT6_uc010zra.1_Missense_Mutation_p.M1K|TRMT6_uc010gbn.1_Missense_Mutation_p.M1K|TRMT6_uc010gbo.1_RNA	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6	171					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			pancreas(1)	1						TGCATAATACATAATTGAAAG	0.313													T	5924624	A	T	5924624	3	4	51	1	0	0	0	0	1	0	0	0	16565	217	8	5	1009	5	TRMT6	20	5924624	Missense_Mutation	SNP	A	TCGA-BR-7716-01A-21D-2053-08	4006589	5924624	57100896	154	40920											
RALGAPA2	57186	broad.mit.edu	37	chr20	20621418	20621418	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggatgacatgactgctggGaaaccaggcaccaggcaagc	13	11	0	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr20:20621418G>A	uc002wrz.2	-	6	620	c.477C>T	c.(475-477)TTC>TTT	p.F159F	RALGAPA2_uc010zsg.1_5'UTR	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	159					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						TGACTGCTGGGAAACCAGGCA	0.498													A	20621418	G	A	20621418	2	1	51	1	0	0	0	0	0	0	0	1	13014	1165	41	4		4	RALGAPA2	20	20621418	Silent	SNP	G	TCGA-BR-7716-01A-21D-2053-08	14696794	20621418	42404102	155	40921											
TPX2	22974	broad.mit.edu	37	chr20	30363673	30363673	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actgattttctctttaggcaGaagtttctaaaaagtactga	7	6	2	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr20:30363673G>T	uc002wwp.1	+	8	1310	c.612G>T	c.(610-612)CAG>CAT	p.Q204H	TPX2_uc010gdv.1_Missense_Mutation_p.Q204H	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated protein homolog	204					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			large_intestine(1)|ovary(1)	2			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TCTTTAGGCAGAAGTTTCTAA	0.388													T	30363673	G	T	30363673	3	4	51	1	0	0	0	0	1	0	0	0	16429	933	33	5	634	5	TPX2	20	30363673	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	9742255	30363673	32661847	156	40922											
CHD6	84181	broad.mit.edu	37	chr20	40122221	40122221	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagagattcaaattctTtaacttttgcaggatctaca	6	7	3	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr20:40122221T>G	uc002xka.1	-	10	1449	c.1271A>C	c.(1270-1272)AAA>ACA	p.K424T	CHD6_uc002xkd.2_Missense_Mutation_p.K402T	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	424	Chromo 2.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TTCAAATTCTTTAACTTTTGC	0.408													G	40122221	T	G	40122221	3	3	51	1	0	0	0	0	1	0	0	0	3329	1841	64	5	6988	5	CHD6	20	40122221	Missense_Mutation	SNP	T	TCGA-BR-7716-01A-21D-2053-08	9758548	40122221	22903299	157	40923											
SLC13A3	64849	broad.mit.edu	37	chr20	45242254	45242254	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accttgttggagggcaagatGcccatgaaggggaagaggac	16	7	0	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr20:45242254G>T	uc002xsf.1	-	2	260	c.222C>A	c.(220-222)GGC>GGA	p.G74G	SLC13A3_uc010ghn.1_Silent_p.G43G|SLC13A3_uc010zxw.1_Silent_p.G74G|SLC13A3_uc002xsg.1_Silent_p.G27G|SLC13A3_uc010gho.1_Silent_p.G27G|SLC13A3_uc010zxx.1_Intron|SLC13A3_uc002xsi.3_Silent_p.G27G	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	74	Helical; (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AGGGCAAGATGCCCATGAAGG	0.602													T	45242254	G	T	45242254	2	4	51	1	0	0	0	0	0	0	0	1	14393	1306	46	5		5	SLC13A3	20	45242254	Silent	SNP	G	TCGA-BR-7716-01A-21D-2053-08	5120033	45242254	17783266	158	40924											
NCOA3	8202	broad.mit.edu	37	chr20	46265013	46265013	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actgcagttacttacctgttCttctgatgaccggggtcatt	9	10	3	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr20:46265013C>T	uc002xtk.2	+	12	2088	c.1883C>T	c.(1882-1884)TCT>TTT	p.S628F	NCOA3_uc010ght.1_Missense_Mutation_p.S638F|NCOA3_uc002xtl.2_Missense_Mutation_p.S628F|NCOA3_uc002xtm.2_Missense_Mutation_p.S628F|NCOA3_uc002xtn.2_Missense_Mutation_p.S628F|NCOA3_uc010zyc.1_Missense_Mutation_p.S423F	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	628	Ser-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						CTTACCTGTTCTTCTGATGAC	0.468													T	46265013	C	T	46265013	3	4	51	1	0	0	0	0	1	0	0	0	10230	913	32	4	1951	4	NCOA3	20	46265013	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	1022759	46265013	16760507	159	40925											
TSHZ2	128553	broad.mit.edu	37	chr20	51871441	51871441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgagaaagtcgtgaaaagcGaggactatgaagatcctcta	11	6	1	4			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr20:51871441G>A	uc002xwo.2	+	2	2400	c.1444G>A	c.(1444-1446)GAG>AAG	p.E482K		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	482					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			CGTGAAAAGCGAGGACTATGA	0.428													A	51871441	G	A	51871441	3	1	51	1	0	0	0	0	1	0	0	0	16621	1059	37	1	1450	1	TSHZ2	20	51871441	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	5606428	51871441	11154079	160	40926											
TMPRSS15	5651	broad.mit.edu	37	chr21	19642429	19642429	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttggcacattaatggtcCtcctgaatccccctaaagag	7	12	1	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr21:19642429C>A	uc002ykw.2	-	25	2948	c.2917G>T	c.(2917-2919)GGA>TGA	p.G973*		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	973	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						ATTAATGGTCCTCCTGAATCC	0.378													A	19642429	C	A	19642429	4	1	51	1	0	0	0	0	0	1	0	0	16243	690	24	5	146	5	TMPRSS15	21	19642429	Nonsense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08		19642429	28487466	161	40927											
NCAM2	4685	broad.mit.edu	37	chr21	22746243	22746243	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gctcatcactgcatattaaaGatgtgaagttgtcagattca	8	7	4	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr21:22746243G>C	uc002yld.1	+	9	1354	c.1105G>C	c.(1105-1107)GAT>CAT	p.D369H	NCAM2_uc011acb.1_Missense_Mutation_p.D227H|NCAM2_uc011acc.1_Missense_Mutation_p.D394H	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	369	Ig-like C2-type 4.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCATATTAAAGATGTGAAGTT	0.413													C	22746243	G	C	22746243	3	2	51	1	0	0	0	0	1	0	0	0	10203	942	33	5	1139	5	NCAM2	21	22746243	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	3103814	22746243	25383652	162	40928											
GGA1	26088	broad.mit.edu	37	chr22	38021940	38021940	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcagtttccctgcttgacgaCgagctcatgtctctgggtga	11	11	3	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr22:38021940C>G	uc003atc.2	+	11	1442	c.1077C>G	c.(1075-1077)GAC>GAG	p.D359E	GGA1_uc003atd.2_Intron|GGA1_uc003ate.2_Missense_Mutation_p.D359E|GGA1_uc003atf.2_Missense_Mutation_p.D286E	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	359	Autoinhibitory.|Unstructured hinge.			LLDDE->AADAA: Partial loss of clathrin- binding.	intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					TGCTTGACGACGAGCTCATGT	0.672													G	38021940	C	G	38021940	3	3	51	1	0	0	0	0	1	0	0	0	6352	535	19	5	1185	5	GGA1	22	38021940	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08		38021940	13282626	163	40929											
FAM83F	113828	broad.mit.edu	37	chr22	40417545	40417545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggagatgatgcgctgggCtgcccggcaacagcgggagg	20	9	0	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr22:40417545C>T	uc003ayk.1	+	4	1125	c.1031C>T	c.(1030-1032)GCT>GTT	p.A344V		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	344										breast(1)	1						ATGCGCTGGGCTGCCCGGCAA	0.682													T	40417545	C	T	40417545	3	4	51	1	0	0	0	0	1	0	0	0	5638	797	28	2	1045	2	FAM83F	22	40417545	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	2395605	40417545	10887021	164	40930											
SBF1	6305	broad.mit.edu	37	chr22	50886972	50886972	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacactggccctcactcacAcggccgtctggccggccctc	9	20	4	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr22:50886972A>G	uc003blh.2	-	37	5346	c.5151T>C	c.(5149-5151)CGT>CGC	p.R1717R	SBF1_uc003ble.2_Silent_p.R181R|SBF1_uc003blf.2_Silent_p.R193R|SBF1_uc011arx.1_Silent_p.R1355R	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1691					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCACTCACACGGCCGTCTG	0.662													G	50886972	A	G	50886972	2	3	51	1	0	0	0	0	0	0	0	1	13858	173	6	3		3	SBF1	22	50886972	Silent	SNP	A	TCGA-BR-7716-01A-21D-2053-08	10469427	50886972	417594	165	40931											
NHS	4810	broad.mit.edu	37	chrX	17750507	17750507	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgtacaatacgcccatgCaggcaatctccgagggagag	13	11	1	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chrX:17750507C>T	uc004cxx.2	+	8	5154	c.4816C>T	c.(4816-4818)CAG>TAG	p.Q1606*	NHS_uc011mix.1_Nonsense_Mutation_p.Q1627*|NHS_uc004cxy.2_Nonsense_Mutation_p.Q1450*|NHS_uc004cxz.2_Nonsense_Mutation_p.Q1429*|NHS_uc004cya.2_Nonsense_Mutation_p.Q1329*	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	1606						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					TACGCCCATGCAGGCAATCTC	0.607													T	17750507	C	T	17750507	4	4	51	1	0	0	0	0	0	1	0	0	10411	711	25	2	4951	2	NHS	23	17750507	Nonsense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08		17750507	137520053	166	40932											
MAGEE1	57692	broad.mit.edu	37	chrX	75650042	75650042	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccctttgaagggttagaAgagagcccaaatgggccaaa	13	8	0	3			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chrX:75650042A>C	uc004ecm.1	+	1	1926	c.1719A>C	c.(1717-1719)GAA>GAC	p.E573D		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	573	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						AAGGGTTAGAAGAGAGCCCAA	0.468													C	75650042	A	C	75650042	3	2	51	1	0	0	0	0	1	0	0	0	9185	69	3	5	1721	5	MAGEE1	23	75650042	Missense_Mutation	SNP	A	TCGA-BR-7716-01A-21D-2053-08	57899535	75650042	79620518	167	40933											
P2RY10	27334	broad.mit.edu	37	chrX	78216055	78216055	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atacactgaaacattcaagaTgggtagcaacagtaccagca	8	9	1	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chrX:78216055T>A	uc004ede.2	+	4	407	c.38T>A	c.(37-39)ATG>AAG	p.M13K	P2RY10_uc004edf.2_Missense_Mutation_p.M13K	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	13	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5						ACATTCAAGATGGGTAGCAAC	0.348													A	78216055	T	A	78216055	3	1	51	1	0	0	0	0	1	0	0	0	11347	1464	51	5	40	5	P2RY10	23	78216055	Missense_Mutation	SNP	T	TCGA-BR-7716-01A-21D-2053-08	2566013	78216055	77054505	168	40934											
POU3F4	5456	broad.mit.edu	37	chrX	82764197	82764197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacctccatcgaggtgagtGtcaagggcgtactggagacg	16	9	1	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chrX:82764197G>A	uc004eeg.2	+	1	929	c.865G>A	c.(865-867)GTC>ATC	p.V289I		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	289	Homeobox.				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						CGAGGTGAGTGTCAAGGGCGT	0.612													A	82764197	G	A	82764197	3	1	51	1	0	0	0	0	1	0	0	0	12277	1377	48	4	867	4	POU3F4	23	82764197	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	4548142	82764197	72506363	169	40935											
PAK3	5063	broad.mit.edu	37	chrX	110435772	110435772	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaccttcaacagcaacccaaGaaggaattaattattaatga	5	8	1	2	rs151056810	byFrequency	TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chrX:110435772G>C	uc004epa.2	+	10	990	c.963G>C	c.(961-963)AAG>AAC	p.K321N	PAK3_uc010npt.1_Missense_Mutation_p.K306N|PAK3_uc010npu.1_Missense_Mutation_p.K306N|PAK3_uc004eoy.1_Missense_Mutation_p.K61N|PAK3_uc004eoz.2_Missense_Mutation_p.K306N|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.K342N|PAK3_uc010npw.1_Missense_Mutation_p.K327N	NM_001128173	NP_001121645	O75914	PAK3_HUMAN	p21-activated kinase 3 isoform d	321	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			lung(6)|ovary(3)|large_intestine(1)	10						AGCAACCCAAGAAGGAATTAA	0.284										TSP Lung(19;0.15)			C	110435772	G	C	110435772	3	2	51	1	0	0	0	0	1	0	0	0	11402	933	33	5	1068	5	PAK3	23	110435772	Missense_Mutation	SNP	G	TCGA-BR-7716-01A-21D-2053-08	27671575	110435772	44834788	170	40936											
ARHGAP36	158763	broad.mit.edu	37	chrX	130218985	130218985	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaggagtttttccgtgacaTgaaggattctctgctgccag	11	9	1	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chrX:130218985T>A	uc004evz.2	+	7	1247	c.902T>A	c.(901-903)ATG>AAG	p.M301K	ARHGAP36_uc004ewa.2_Missense_Mutation_p.M289K|ARHGAP36_uc004ewb.2_Missense_Mutation_p.M270K|ARHGAP36_uc004ewc.2_Missense_Mutation_p.M165K	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	301	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3						TTCCGTGACATGAAGGATTCT	0.458													A	130218985	T	A	130218985	3	1	51	1	0	0	0	0	1	0	0	0	883	1464	51	5	924	5	ARHGAP36	23	130218985	Missense_Mutation	SNP	T	TCGA-BR-7716-01A-21D-2053-08	19783213	130218985	25051575	171	40937											
TFDP3	51270	broad.mit.edu	37	chrX	132351694	132351694	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtctttccacccgtaagttCtgacagttctgagccgagtt	9	11	3	2			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chrX:132351694C>T	uc004exb.1	-	1	683	c.594G>A	c.(592-594)CAG>CAA	p.Q198Q		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	198	Involved in negatively regulating E2F activity.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					CCCGTAAGTTCTGACAGTTCT	0.428													T	132351694	C	T	132351694	2	4	51	1	0	0	0	0	0	0	0	1	15796	912	32	4		4	TFDP3	23	132351694	Silent	SNP	C	TCGA-BR-7716-01A-21D-2053-08	2132709	132351694	22918866	172	40938											
FMR1	2332	broad.mit.edu	37	chrX	147024689	147024689	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggagagattacaaattgaTgagcagttgcgacagattgg	13	4	0	4			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chrX:147024689T>C	uc010nst.2	+	14	1503	c.1314T>C	c.(1312-1314)GAT>GAC	p.D438D	FMR1_uc004fcj.2_Silent_p.D415D|FMR1_uc004fck.3_Silent_p.D417D|FMR1_uc004fcl.3_Silent_p.D278D|FMR1_uc011mxa.1_Silent_p.D85D	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	438	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TACAAATTGATGAGCAGTTGC	0.358									Fragile_X_syndrome				C	147024689	T	C	147024689	2	2	51	1	0	0	0	0	0	0	0	1	5960	1461	51	3		3	FMR1	23	147024689	Silent	SNP	T	TCGA-BR-7716-01A-21D-2053-08	14672995	147024689	8245871	173	40939											
MAMLD1	10046	broad.mit.edu	37	chrX	149639635	149639635	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cactgccaccttgcagctgcAgcagcagcagcagcaacagc	10	16	0	0			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chrX:149639635A>T	uc004fee.1	+	3	1866	c.1790A>T	c.(1789-1791)CAG>CTG	p.Q597L	MAMLD1_uc011mxt.1_Missense_Mutation_p.Q559L|MAMLD1_uc011mxu.1_Missense_Mutation_p.Q572L|MAMLD1_uc011mxv.1_Missense_Mutation_p.Q572L|MAMLD1_uc011mxw.1_Missense_Mutation_p.Q524L	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.483													T	149639635	A	T	149639635	3	4	51	1	0	0	0	0	1	0	0	0	9208	188	7	5	1800	5	MAMLD1	23	149639635	Missense_Mutation	SNP	A	TCGA-BR-7716-01A-21D-2053-08	2614946	149639635	5630925	174	40940											
PASD1	139135	broad.mit.edu	37	chrX	150828296	150828296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttttcctggatactatgCctgaatctccaggtaggtac	9	10	1	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chrX:150828296C>T	uc004fev.3	+	10	1161	c.829C>T	c.(829-831)CCT>TCT	p.P277S		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	277						nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GGATACTATGCCTGAATCTCC	0.383													T	150828296	C	T	150828296	3	4	51	1	0	0	0	0	1	0	0	0	11471	739	26	2	863	2	PASD1	23	150828296	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	1188661	150828296	4442264	175	40941											
L1CAM	3897	broad.mit.edu	37	chrX	153137610	153137610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgcagcgcctcgcaccctCggccatgagccggatctcat	10	18	1	1			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chrX:153137610C>T	uc004fjb.2	-	4	505	c.397G>A	c.(397-399)GAG>AAG	p.E133K	L1CAM_uc004fjc.2_Missense_Mutation_p.E133K|L1CAM_uc010nuo.2_Missense_Mutation_p.E128K|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc004fje.1_Missense_Mutation_p.E128K	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	133	Extracellular (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCGCACCCTCGGCCATGAGC	0.622													T	153137610	C	T	153137610	3	4	51	1	0	0	0	0	1	0	0	0	8588	893	31	1	3476	1	L1CAM	23	153137610	Missense_Mutation	SNP	C	TCGA-BR-7716-01A-21D-2053-08	2309314	153137610	2132950	176	40942											
CCDC27	148870	broad.mit.edu	37	chr1	3680286	3680288	+	In_Frame_Del	DEL	ACA	ACA	-													ccaggagtgattgcgtctttAcaacaacaagtggatttcca							TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr1:3680286_3680288delACA	uc001akv.2	+	8	1419_1421	c.1338_1340delACA	c.(1336-1341)TTACAA>TTA	p.Q449del		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	449										skin(1)	1	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TTGCGTCTTTACAACAACAAGTG	0.581													-	3680288	ACA	-	3680286	7	5	52	1	0	1	0	1	0	0	0	0	2801	388	14	0	1368	0	CCDC27	1	3680286	In_Frame_Del	DEL	ACA	TCGA-BR-7717-01A-11D-2053-08		3680286	245570335	1	40943											
GPR157	80045	broad.mit.edu	37	chr1	9171478	9171478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaccagcccacagacaCgtccgaggcgtcatagccaa	9	17	1	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr1:9171478C>T	uc001apq.1	-	2	597	c.454G>A	c.(454-456)GTG>ATG	p.V152M	GPR157_uc010oad.1_Missense_Mutation_p.V152M|GPR157_uc001apr.2_Missense_Mutation_p.V152M	NM_024980	NP_079256	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	152	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		CCCACAGACACGTCCGAGGCG	0.607											OREG0013073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	9171478	C	T	9171478	3	4	52	1	0	0	0	0	1	0	0	0	6662	536	19	1	565	1	GPR157	1	9171478	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	5491192	9171478	240079143	2	40944											
DEPDC1	55635	broad.mit.edu	37	chr1	68949689	68949689	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taagtagaggttcagggagaTctagaaaataatctgcgatt	11	4	3	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr1:68949689T>A	uc001dem.3	-	7	971	c.854A>T	c.(853-855)GAT>GTT	p.D285V	DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Missense_Mutation_p.D285V	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	285	Rho-GAP.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TTCAGGGAGATCTAGAAAATA	0.308													A	68949689	T	A	68949689	3	1	52	1	0	0	0	0	1	0	0	0	4439	1435	50	5	1605	5	DEPDC1	1	68949689	Missense_Mutation	SNP	T	TCGA-BR-7717-01A-11D-2053-08	59778211	68949689	180300932	3	40945											
LPHN2	23266	broad.mit.edu	37	chr1	82416098	82416098	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaagcattagactccaAggggataaagtggcctcaga	12	8	1	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr1:82416098A>T	uc001dit.3	+	7	1605	c.1424A>T	c.(1423-1425)AAG>ATG	p.K475M	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.K475M|LPHN2_uc001div.2_Missense_Mutation_p.K475M|LPHN2_uc009wcd.2_Missense_Mutation_p.K475M|LPHN2_uc001diw.2_Missense_Mutation_p.K46M	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	475	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTAGACTCCAAGGGGATAAAG	0.418													T	82416098	A	T	82416098	3	4	52	1	0	0	0	0	1	0	0	0	8916	72	3	5	1442	5	LPHN2	1	82416098	Missense_Mutation	SNP	A	TCGA-BR-7717-01A-11D-2053-08	13466409	82416098	166834523	4	40946											
ASH1L	55870	broad.mit.edu	37	chr1	155449512	155449512	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttttggtttgcgacctcttCtctttcctatataaatggtt	6	8	2	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr1:155449512C>T	uc009wqq.2	-	3	3629	c.3149G>A	c.(3148-3150)AGA>AAA	p.R1050K	ASH1L_uc001fkt.2_Missense_Mutation_p.R1050K|ASH1L_uc009wqr.1_Missense_Mutation_p.R1050K	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1050					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GCGACCTCTTCTCTTTCCTAT	0.418													T	155449512	C	T	155449512	3	4	52	1	0	0	0	0	1	0	0	0	1041	913	32	4	5849	4	ASH1L	1	155449512	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	73033414	155449512	93801109	5	40947											
LAMC2	3918	broad.mit.edu	37	chr1	183206593	183206595	+	In_Frame_Del	DEL	AAG	AAG	-													gaagaatctgggaaactggaAagaagaagcacagcagctct							TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr1:183206592_183206594AAAG>A	uc001gqa.2	+	17	3021_3023	c.2707_2709AAAG>A	c.(2707-2709)aaa>A	p.K903del	LAMC2_uc001gpz.4_In_Frame_Del_p.K903del|LAMC2_uc010poa.2_In_Frame_Del_p.K603del	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	903	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GGGAAACTGGAAAGAAGAAGCAC	0.404													-	183206595	AAG	-	183206593	7	5	52	1	0	1	0	1	0	0	0	0	8615	14	1	0	2778	0	LAMC2	1	183206593	In_Frame_Del	DEL	AAG	TCGA-BR-7717-01A-11D-2053-08	27757081	183206593	66044028	6	40948											
HMCN1	83872	broad.mit.edu	37	chr1	186083167	186083167	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taattcttttaaataagtcaActgtattggaatgcatcgct	6	6	2	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr1:186083167A>C	uc001grq.1	+	73	11417	c.11188A>C	c.(11188-11190)ACT>CCT	p.T3730P		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3730	Ig-like C2-type 36.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AAATAAGTCAACTGTATTGGA	0.418													C	186083167	A	C	186083167	3	2	52	1	0	0	0	0	1	0	0	0	7220	43	2	5	11478	5	HMCN1	1	186083167	Missense_Mutation	SNP	A	TCGA-BR-7717-01A-11D-2053-08	2876574	186083167	63167454	7	40949											
CRB1	23418	broad.mit.edu	37	chr1	197391073	197391073	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggccctatgaaggcccCaactgtctgagaggtgagag	13	11	1	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr1:197391073C>T	uc001gtz.2	+	6	2250	c.2115C>T	c.(2113-2115)CCC>CCT	p.P705P	CRB1_uc010poz.1_Silent_p.P636P|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.P593P|CRB1_uc010ppb.1_Silent_p.P705P|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Silent_p.P186P|CRB1_uc001gub.1_Silent_p.P354P	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	705	Extracellular (Potential).|EGF-like 12.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						ATGAAGGCCCCAACTGTCTGA	0.527													T	197391073	C	T	197391073	2	4	52	1	0	0	0	0	0	0	0	1	3848	581	21	4		4	CRB1	1	197391073	Silent	SNP	C	TCGA-BR-7717-01A-11D-2053-08	11307906	197391073	51859548	8	40950											
C1orf115	79762	broad.mit.edu	37	chr1	220870050	220870050	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtttgcggtagccaccAgcgtggtatccttcgtgcgc	12	15	0	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr1:220870050A>T	uc001hmp.1	+	2	523	c.406A>T	c.(406-408)AGC>TGC	p.S136C		NM_024709	NP_078985	Q9H7X2	CA115_HUMAN	hypothetical protein LOC79762	136	Helical; (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(131;0.0273)		GGTAGCCACCAGCGTGGTATC	0.597													T	220870050	A	T	220870050	3	4	52	1	0	0	0	0	1	0	0	0	1988	188	7	5	412	5	C1orf115	1	220870050	Missense_Mutation	SNP	A	TCGA-BR-7717-01A-11D-2053-08	23478977	220870050	28380571	9	40951											
LYST	1130	broad.mit.edu	37	chr1	235993555	235993555	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tatagaatttagcttggtaaGtaatagaaatcctcgaccat	7	6	0	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr1:235993555G>C	uc001hxj.2	-	3	338	c.163C>G	c.(163-165)CTT>GTT	p.L55V	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.L55V|LYST_uc001hxm.2_RNA|LYST_uc001hxn.1_Missense_Mutation_p.L55V	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	55					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGCTTGGTAAGTAATAGAAAT	0.408									Chediak-Higashi_syndrome				C	235993555	G	C	235993555	3	2	52	1	0	0	0	0	1	0	0	0	9128	1029	36	5	11446	5	LYST	1	235993555	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	15123505	235993555	13257066	10	40952											
TPO	7173	broad.mit.edu	37	chr2	1426885	1426885	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctggtggacaccgccatgTacgccacgatgcagaggtga	14	12	0	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr2:1426885T>C	uc002qww.2	+	3	254	c.163T>C	c.(163-165)TAC>CAC	p.Y55H	TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Missense_Mutation_p.Y55H|TPO_uc002qwu.2_Missense_Mutation_p.Y55H|TPO_uc002qwr.2_Missense_Mutation_p.Y55H|TPO_uc002qwx.2_Missense_Mutation_p.Y55H|TPO_uc010yio.1_Missense_Mutation_p.Y55H|TPO_uc010yip.1_Missense_Mutation_p.Y55H	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	55	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CACCGCCATGTACGCCACGAT	0.597													C	1426885	T	C	1426885	3	2	52	1	0	0	0	0	1	0	0	0	16407	1638	57	3	169	3	TPO	2	1426885	Missense_Mutation	SNP	T	TCGA-BR-7717-01A-11D-2053-08		1426885	241772488	11	40953											
OTOF	9381	broad.mit.edu	37	chr2	26697430	26697430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagctgtggcgttgccaCggtagatctggtagtactcg	13	11	1	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr2:26697430C>T	uc002rhk.2	-	26	3366	c.3239G>A	c.(3238-3240)CGT>CAT	p.R1080H	OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Missense_Mutation_p.R333H|OTOF_uc002rhi.2_Missense_Mutation_p.R390H|OTOF_uc002rhj.2_Missense_Mutation_p.R333H	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1080	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCGTTGCCACGGTAGATCTG	0.527													T	26697430	C	T	26697430	3	4	52	1	0	0	0	0	1	0	0	0	11303	536	19	1	3023	1	OTOF	2	26697430	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	25270545	26697430	216501943	12	40954											
NRXN1	9378	broad.mit.edu	37	chr2	50573836	50573836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgcagacccaccgtgtccGcctcgcaaggatgccggtga	12	15	0	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr2:50573836G>A	uc010fbp.2	-	1	1059	c.252C>T	c.(250-252)GGC>GGT	p.G84G	NRXN1_uc002rxb.3_Intron|NRXN1_uc010fbq.2_Intron|NRXN1_uc002rxe.3_Intron|NRXN1_uc002rxc.1_Intron	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	84	Extracellular (Potential).				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CACCGTGTCCGCCTCGCAAGG	0.572													A	50573836	G	A	50573836	2	1	52	1	0	0	0	0	0	0	0	1	10665	1074	38	1		1	NRXN1	2	50573836	Silent	SNP	G	TCGA-BR-7717-01A-11D-2053-08	23876406	50573836	192625537	13	40955											
VPS54	51542	broad.mit.edu	37	chr2	64211037	64211037	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacatctggcagtgatggcaCaggtcgaatgtgttttgacg	13	8	1	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr2:64211037C>G	uc002scq.2	-	2	260	c.97G>C	c.(97-99)GTG>CTG	p.V33L	VPS54_uc002scp.2_Missense_Mutation_p.V33L	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 isoform 1	33					protein transport|retrograde transport, endosome to Golgi						0						AGTGATGGCACAGGTCGAATG	0.403													G	64211037	C	G	64211037	3	3	52	1	0	0	0	0	1	0	0	0	17213	478	17	5	2924	5	VPS54	2	64211037	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	13637201	64211037	178988336	14	40956											
SPRED2	200734	broad.mit.edu	37	chr2	65571938	65571938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccttacagaccccgacgCgactgatcccgcctccttcc	7	19	0	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr2:65571938C>T	uc002sdr.3	-	2	654	c.119G>A	c.(118-120)CGC>CAC	p.R40H	SPRED2_uc010fcw.2_Missense_Mutation_p.R37H|SPRED2_uc010fcx.1_RNA	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	40	WH1.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3						GACCCCGACGCGACTGATCCC	0.532													T	65571938	C	T	65571938	3	4	52	1	0	0	0	0	1	0	0	0	15092	768	27	1	1157	1	SPRED2	2	65571938	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	1360901	65571938	177627435	15	40957											
DYSF	8291	broad.mit.edu	37	chr2	71795434	71795434	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccctcggccggctggaccTgggctggagattggttcgtg	17	12	0	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr2:71795434T>C	uc002sie.2	+	26	3152	c.2776T>C	c.(2776-2778)TGG>CGG	p.W926R	DYSF_uc010feg.2_Missense_Mutation_p.W957R|DYSF_uc010feh.2_Missense_Mutation_p.W912R|DYSF_uc002sig.3_Missense_Mutation_p.W912R|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.W926R|DYSF_uc010fef.2_Missense_Mutation_p.W943R|DYSF_uc010fei.2_Missense_Mutation_p.W943R|DYSF_uc010fek.2_Missense_Mutation_p.W944R|DYSF_uc010fej.2_Missense_Mutation_p.W913R|DYSF_uc010fel.2_Missense_Mutation_p.W913R|DYSF_uc010feo.2_Missense_Mutation_p.W958R|DYSF_uc010fem.2_Missense_Mutation_p.W927R|DYSF_uc010fen.2_Missense_Mutation_p.W944R|DYSF_uc002sif.2_Missense_Mutation_p.W927R	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	926	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CGGCTGGACCTGGGCTGGAGA	0.647													C	71795434	T	C	71795434	3	2	52	1	0	0	0	0	1	0	0	0	4859	1580	55	3	3070	3	DYSF	2	71795434	Missense_Mutation	SNP	T	TCGA-BR-7717-01A-11D-2053-08	6223496	71795434	171403939	16	40958											
INPP4A	3631	broad.mit.edu	37	chr2	99204053	99204053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcctcccgaagggacttaCggaaaagttgaaacgtgaac	12	9	0	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr2:99204053C>T	uc002syy.2	+	26	3309	c.2916C>T	c.(2914-2916)TAC>TAT	p.Y972Y	INPP4A_uc010yvk.1_Silent_p.Y933Y|INPP4A_uc002syx.2_Silent_p.Y967Y|INPP4A_uc010fik.2_Silent_p.Y301Y	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type 1	972					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			kidney(1)	1						AAGGGACTTACGGAAAAGTTG	0.408													T	99204053	C	T	99204053	2	4	52	1	0	0	0	0	0	0	0	1	7752	547	19	1		1	INPP4A	2	99204053	Silent	SNP	C	TCGA-BR-7717-01A-11D-2053-08	27408619	99204053	143995320	17	40959											
TANC1	85461	broad.mit.edu	37	chr2	160020039	160020039	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagctcactaataatgccaCggcccaactcagttgcaggt	8	14	2	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr2:160020039C>G	uc002uag.2	+	8	1202	c.928C>G	c.(928-930)CGG>GGG	p.R310G	TANC1_uc010fol.1_Missense_Mutation_p.R204G|TANC1_uc010zcm.1_Missense_Mutation_p.R309G|TANC1_uc010fom.1_Intron	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	310						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						AATAATGCCACGGCCCAACTC	0.547													G	160020039	C	G	160020039	3	3	52	1	0	0	0	0	1	0	0	0	15541	527	19	5	950	5	TANC1	2	160020039	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	60815986	160020039	83179334	18	40960											
TTN	7273	broad.mit.edu	37	chr2	179398445	179398445	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgtcattgtcacctggTttgattttctgacctgattt	7	8	4	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr2:179398445T>C	uc010zfg.1	-	307	95417	c.95193A>G	c.(95191-95193)AAA>AAG	p.K31731K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.K25426K|TTN_uc010zfi.1_Silent_p.K25359K|TTN_uc010zfj.1_Silent_p.K25234K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32658							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTCACCTGGTTTGATTTTCT	0.393													C	179398445	T	C	179398445	2	2	52	1	0	0	0	0	0	0	0	1	16732	1722	60	3		3	TTN	2	179398445	Silent	SNP	T	TCGA-BR-7717-01A-11D-2053-08	19378406	179398445	63800928	19	40961											
TTN	7273	broad.mit.edu	37	chr2	179600768	179600768	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaaagttgtaagggacTtaggtctggagagaaaggtt	13	5	1	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr2:179600768T>G	uc010zfg.1	-	47	10897	c.10673A>C	c.(10672-10674)AAG>ACG	p.K3558T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K219T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4485							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTAAGGGACTTAGGTCTGGA	0.438													G	179600768	T	G	179600768	3	3	52	1	0	0	0	0	1	0	0	0	16732	1609	56	5	90376	5	TTN	2	179600768	Missense_Mutation	SNP	T	TCGA-BR-7717-01A-11D-2053-08	202323	179600768	63598605	20	40962											
TTN	7273	broad.mit.edu	37	chr2	179658255	179658255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagttacagcagtcttctccGcttcctttcttacctgcttt	5	13	3	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr2:179658255G>A	uc010zfg.1	-	9	1636	c.1412C>T	c.(1411-1413)GCG>GTG	p.A471V	TTN_uc010zfh.1_Missense_Mutation_p.A471V|TTN_uc010zfi.1_Missense_Mutation_p.A471V|TTN_uc010zfj.1_Missense_Mutation_p.A471V|TTN_uc002unb.2_Missense_Mutation_p.A471V|TTN_uc010frg.1_Missense_Mutation_p.A145V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	471							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTCTTCTCCGCTTCCTTTCT	0.313													A	179658255	G	A	179658255	3	1	52	1	0	0	0	0	1	0	0	0	16732	1087	38	1	109992	1	TTN	2	179658255	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	57487	179658255	63541118	21	40963											
SESTD1	91404	broad.mit.edu	37	chr2	180047841	180047841	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taggtagtctaaggtgacacTcagctcatccatatttgtct	8	9	4	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr2:180047841T>G	uc002uni.3	-	3	280	c.130A>C	c.(130-132)AGT>CGT	p.S44R		NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	44	CRAL-TRIO.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AAGGTGACACTCAGCTCATCC	0.358													G	180047841	T	G	180047841	3	3	52	1	0	0	0	0	1	0	0	0	14127	1551	54	5	2024	5	SESTD1	2	180047841	Missense_Mutation	SNP	T	TCGA-BR-7717-01A-11D-2053-08	389586	180047841	63151532	22	40964											
MAP2	4133	broad.mit.edu	37	chr2	210559425	210559425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgtggttgaggatagtcGtactggcttgcccccggtaa	14	9	0	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr2:210559425G>A	uc002vde.1	+	7	2779	c.2531G>A	c.(2530-2532)CGT>CAT	p.R844H	MAP2_uc002vdc.1_Missense_Mutation_p.R844H|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.R840H	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	844					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GAGGATAGTCGTACTGGCTTG	0.498													A	210559425	G	A	210559425	3	1	52	1	0	0	0	0	1	0	0	0	9235	1145	40	1	2545	1	MAP2	2	210559425	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	30511584	210559425	32639948	23	40965											
MAP2	4133	broad.mit.edu	37	chr2	210560109	210560109	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagggcaacagagctaaaacTtgaggctacacaggacatga	11	8	0	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr2:210560109T>G	uc002vde.1	+	7	3463	c.3215T>G	c.(3214-3216)CTT>CGT	p.L1072R	MAP2_uc002vdc.1_Missense_Mutation_p.L1072R|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.L1068R	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1072					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GAGCTAAAACTTGAGGCTACA	0.458													G	210560109	T	G	210560109	3	3	52	1	0	0	0	0	1	0	0	0	9235	1609	56	5	3229	5	MAP2	2	210560109	Missense_Mutation	SNP	T	TCGA-BR-7717-01A-11D-2053-08	684	210560109	32639264	24	40966											
ABCA12	26154	broad.mit.edu	37	chr2	215802240	215802240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcatcacttacttttaaGtatgtttttggaaagtgcag	7	7	2	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr2:215802240G>A	uc002vew.2	-	51	7756	c.7536C>T	c.(7534-7536)TAC>TAT	p.Y2512Y	ABCA12_uc002vev.2_Silent_p.Y2194Y|ABCA12_uc010zjn.1_Silent_p.Y1439Y	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	2512					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTACTTTTAAGTATGTTTTTG	0.229													A	215802240	G	A	215802240	2	1	52	1	0	0	0	0	0	0	0	1	30	1024	36	4		4	ABCA12	2	215802240	Silent	SNP	G	TCGA-BR-7717-01A-11D-2053-08	5242131	215802240	27397133	25	40967											
KIF1A	547	broad.mit.edu	37	chr2	241683440	241683440	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaacaatgggctggctcttgAtgtactcaatgaaggacttg	11	7	2	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr2:241683440A>T	uc002vzy.2	-	31	3346	c.3200T>A	c.(3199-3201)ATC>AAC	p.I1067N	KIF1A_uc010fzk.2_Missense_Mutation_p.I1168N|KIF1A_uc002vzz.1_Missense_Mutation_p.I1168N	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	1067					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)		CTGGCTCTTGATGTACTCAAT	0.612													T	241683440	A	T	241683440	3	4	52	1	0	0	0	0	1	0	0	0	8283	333	12	5	1940	5	KIF1A	2	241683440	Missense_Mutation	SNP	A	TCGA-BR-7717-01A-11D-2053-08	25881200	241683440	1515933	26	40968											
GHRL	51738	broad.mit.edu	37	chr3	10331490	10331490	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccttctgcttgacctccatCttccgggcggagccagcctg	10	17	2	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr3:10331490C>T	uc010hdf.2	-	3	316	c.181G>A	c.(181-183)GAT>AAT	p.D61N	GHRLOS_uc011atx.1_Intron|GHRLOS_uc011aty.1_Intron|GHRLOS_uc011atz.1_Intron|GHRLOS_uc011aua.1_Intron|GHRLOS_uc010hdl.2_Intron|GHRLOS_uc011aub.1_Intron|GHRLOS_uc010hdm.2_Intron|GHRLOS_uc011auc.1_Intron|GHRLOS_uc011aud.1_Intron|GHRLOS_uc011aue.1_Intron|GHRLOS_uc011auf.1_Intron|GHRLOS_uc011aug.1_Intron|GHRLOS_uc011auh.1_Intron|GHRLOS_uc011aui.1_Intron|GHRLOS_uc011auj.1_Intron|GHRLOS_uc010hdn.2_Intron|GHRL_uc010hda.1_RNA|GHRL_uc010hdb.1_RNA|GHRL_uc003bvj.1_Missense_Mutation_p.D61N|GHRL_uc003bvk.3_RNA|GHRL_uc010hdk.2_Missense_Mutation_p.D48N|GHRL_uc010hdc.2_Intron|GHRL_uc010hdd.2_Intron|GHRL_uc010hde.2_Missense_Mutation_p.D60N|GHRL_uc010hdi.2_Missense_Mutation_p.D61N|GHRL_uc010hdh.2_Missense_Mutation_p.D61N|GHRL_uc010hdj.2_Missense_Mutation_p.D49N|GHRLOS_uc011auk.1_Intron	NM_016362	NP_057446	Q9UBU3	GHRL_HUMAN	ghrelin/obestatin isoform 1 preproprotein	61					actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus	axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule	ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity			ovary(1)	1						TGACCTCCATCTTCCGGGCGG	0.597													T	10331490	C	T	10331490	3	4	52	1	0	0	0	0	1	0	0	0	6374	913	32	4	184	4	GHRL	3	10331490	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08		10331490	187690940	27	40969											
ANKRD28	23243	broad.mit.edu	37	chr3	15736313	15736313	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtctgttcctgaggttTccattaactgaaaaagaaga	9	7	1	4			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr3:15736313T>A	uc003caj.1	-	17	1747	c.1604A>T	c.(1603-1605)GAA>GTA	p.E535V	ANKRD28_uc003cai.1_Missense_Mutation_p.E381V|ANKRD28_uc011avz.1_Missense_Mutation_p.E381V|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.E565V|ANKRD28_uc003cam.2_Missense_Mutation_p.E568V	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	535						nucleoplasm	protein binding			breast(1)	1						TCCTGAGGTTTCCATTAACTG	0.408													A	15736313	T	A	15736313	3	1	52	1	0	0	0	0	1	0	0	0	656	1783	62	5	1605	5	ANKRD28	3	15736313	Missense_Mutation	SNP	T	TCGA-BR-7717-01A-11D-2053-08	5404823	15736313	182286117	28	40970											
ZNF662	389114	broad.mit.edu	37	chr3	42956441	42956441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcagaacacaagccttacGcaacatcaacggatccacac	6	14	2	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr3:42956441G>A	uc003cmi.2	+	5	1228	c.876G>A	c.(874-876)ACG>ACA	p.T292T	ZNF662_uc003cmk.2_Silent_p.T318T|ZNF662_uc003cmj.2_Silent_p.T184T	NM_207404	NP_997287	Q6ZS27	ZN662_HUMAN	zinc finger protein 662 isoform 1	292	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CAAGCCTTACGCAACATCAAC	0.453													A	42956441	G	A	42956441	2	1	52	1	0	0	0	0	0	0	0	1	18068	1074	38	1		1	ZNF662	3	42956441	Silent	SNP	G	TCGA-BR-7717-01A-11D-2053-08	27220128	42956441	155065989	29	40971											
FAM19A4	151647	broad.mit.edu	37	chr3	68802041	68802041	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagaaggttgagcccgagTtgtgcccgccacctgtcccg	12	14	0	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr3:68802041T>G	uc003dnh.1	-	4	702	c.259A>C	c.(259-261)ACT>CCT	p.T87P	FAM19A4_uc003dni.1_Missense_Mutation_p.T87P	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine	87						extracellular region				skin(2)	2		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		TGAGCCCGAGTTGTGCCCGCC	0.522													G	68802041	T	G	68802041	3	3	52	1	0	0	0	0	1	0	0	0	5534	1725	60	5	175	5	FAM19A4	3	68802041	Missense_Mutation	SNP	T	TCGA-BR-7717-01A-11D-2053-08	25845600	68802041	129220389	30	40972											
ADCY5	111	broad.mit.edu	37	chr3	123166565	123166565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggatcacgccgacggcGgccgccagcacggccaggta	15	14	1	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr3:123166565G>A	uc003egh.1	-	1	828	c.828C>T	c.(826-828)GCC>GCT	p.A276A		NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	276	Helical; (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		CGCCGACGGCGGCCGCCAGCA	0.692													A	123166565	G	A	123166565	2	1	52	1	0	0	0	0	0	0	0	1	297	1103	39	1		1	ADCY5	3	123166565	Silent	SNP	G	TCGA-BR-7717-01A-11D-2053-08	54364524	123166565	74855865	31	40973											
SMC4	10051	broad.mit.edu	37	chr3	160137276	160137276	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtagggggaaagtccttgAtgcaataattcaagaaaaaa	10	4	1	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr3:160137276A>G	uc003fdh.2	+	12	1915	c.1802A>G	c.(1801-1803)GAT>GGT	p.D601G	IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.D365G|SMC4_uc003fdi.2_Missense_Mutation_p.D576G|SMC4_uc003fdj.2_Missense_Mutation_p.D601G|SMC4_uc010hwd.2_Missense_Mutation_p.D601G|SMC4_uc003fdl.2_Missense_Mutation_p.D304G	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	601	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAAGTCCTTGATGCAATAATT	0.338													G	160137276	A	G	160137276	3	3	52	1	0	0	0	0	1	0	0	0	14785	333	12	3	1844	3	SMC4	3	160137276	Missense_Mutation	SNP	A	TCGA-BR-7717-01A-11D-2053-08	36970711	160137276	37885154	32	40974											
GP5	2814	broad.mit.edu	37	chr3	194118890	194118890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctagcgcggagatgcgcGccacgtcgccccccgagcac	14	18	0	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr3:194118890G>A	uc003ftv.1	-	2	153	c.122C>T	c.(121-123)GCG>GTG	p.A41V		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	41	LRRNT.|Extracellular (Potential).				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				skin(2)|breast(1)	3	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GGAGATGCGCGCCACGTCGCC	0.701													A	194118890	G	A	194118890	3	1	52	1	0	0	0	0	1	0	0	0	6583	1087	38	1	1564	1	GP5	3	194118890	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	33981614	194118890	3903540	33	40975											
CRIPAK	285464	broad.mit.edu	37	chr4	1388597	1388597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgccacctgctcacacacGtgcccatgtggagtgcccgc	11	16	1	0	rs75969203		TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr4:1388597G>A	uc003gdf.2	+	1	3258	c.298G>A	c.(298-300)GTG>ATG	p.V100M		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	100					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCTCACACACGTGCCCATGTG	0.647													A	1388597	G	A	1388597	3	1	52	1	0	0	0	0	1	0	0	0	3877	1145	40	1	300	1	CRIPAK	4	1388597	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08		1388597	189765679	34	40976											
D4S234E	27065	broad.mit.edu	37	chr4	4419002	4419002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcttggagagctactacgCggagcaagactccagtgccc	13	12	0	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr4:4419002C>T	uc011bvz.1	+	8	1679	c.398C>T	c.(397-399)GCG>GTG	p.A133V	D4S234E_uc011bwa.1_Missense_Mutation_p.A94V|D4S234E_uc003ghz.2_Missense_Mutation_p.A133V|D4S234E_uc003gia.2_Missense_Mutation_p.A133V|D4S234E_uc003gib.2_Missense_Mutation_p.A133V	NM_014392	NP_055207	P42857	NSG1_HUMAN	brain neuron cytoplasmic protein 1	133	Lumenal (Potential).				dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		AGCTACTACGCGGAGCAAGAC	0.562													T	4419002	C	T	4419002	3	4	52	1	0	0	0	0	1	0	0	0	4214	768	27	1	412	1	D4S234E	4	4419002	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	3030405	4419002	186735274	35	40977											
EVC2	132884	broad.mit.edu	37	chr4	5624326	5624326	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtcacggcctcaggagcGtcatccttcagtctctgcct	9	15	6	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr4:5624326G>A	uc003gij.2	-	14	2493	c.2439C>T	c.(2437-2439)GAC>GAT	p.D813D	EVC2_uc011bwb.1_Silent_p.D253D|EVC2_uc003gik.2_Silent_p.D733D	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	813						integral to membrane				large_intestine(3)|ovary(2)	5						CCTCAGGAGCGTCATCCTTCA	0.592													A	5624326	G	A	5624326	2	1	52	1	0	0	0	0	0	0	0	1	5286	1136	40	1		1	EVC2	4	5624326	Silent	SNP	G	TCGA-BR-7717-01A-11D-2053-08	1205324	5624326	185529950	36	40978											
KCTD8	386617	broad.mit.edu	37	chr4	44449752	44449752	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tagaagcgggacgtgtacttCtccggctgccggtcggggtc	16	11	1	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr4:44449752C>G	uc003gwu.2	-	1	1073	c.789G>C	c.(787-789)GAG>GAC	p.E263D		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	263						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						ACGTGTACTTCTCCGGCTGCC	0.652										HNSCC(17;0.042)			G	44449752	C	G	44449752	3	3	52	1	0	0	0	0	1	0	0	0	8115	912	32	5	640	5	KCTD8	4	44449752	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	38825426	44449752	146704524	37	40979											
EXOC1	55763	broad.mit.edu	37	chr4	56765938	56765938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatttttgcaactctttctcGattgaaaatctcatgtctag	5	8	4	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr4:56765938G>A	uc003hbe.1	+	17	2383	c.2225G>A	c.(2224-2226)CGA>CAA	p.R742Q	EXOC1_uc003hbf.1_Missense_Mutation_p.R742Q|EXOC1_uc003hbg.1_Missense_Mutation_p.R727Q	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	742					exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)					ACTCTTTCTCGATTGAAAATC	0.368													A	56765938	G	A	56765938	3	1	52	1	0	0	0	0	1	0	0	0	5301	1058	37	1	2287	1	EXOC1	4	56765938	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	12316186	56765938	134388338	38	40980											
GNRHR	2798	broad.mit.edu	37	chr4	68619666	68619666	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgatcaccaccatcatgaAggctggggcatacatggaga	12	10	2	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr4:68619666A>G	uc003hdn.2	-	1	2139	c.388T>C	c.(388-390)TTC>CTC	p.F130L	LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Missense_Mutation_p.F130L	NM_000406	NP_000397	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor isoform	130	Helical; Name=3; (Potential).				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			ovary(1)	1					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	ACCATCATGAAGGCTGGGGCA	0.507													G	68619666	A	G	68619666	3	3	52	1	0	0	0	0	1	0	0	0	6549	72	3	3	610	3	GNRHR	4	68619666	Missense_Mutation	SNP	A	TCGA-BR-7717-01A-11D-2053-08	11853728	68619666	122534610	39	40981											
CTSO	1519	broad.mit.edu	37	chr4	156863522	156863522	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgtccctccagtcaaatcTtaacggcaaagacacattgg	7	12	2	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr4:156863522T>G	uc003ipg.2	-	3	380	c.331A>C	c.(331-333)AGA>CGA	p.R111R		NM_001334	NP_001325	P43234	CATO_HUMAN	cathepsin O preproprotein	111					proteolysis	lysosome	cysteine-type endopeptidase activity				0	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CAGTCAAATCTTAACGGCAAA	0.413													G	156863522	T	G	156863522	2	3	52	1	0	0	0	0	0	0	0	1	4040	1617	56	5		5	CTSO	4	156863522	Silent	SNP	T	TCGA-BR-7717-01A-11D-2053-08	88243856	156863522	34290754	40	40982											
TLL1	7092	broad.mit.edu	37	chr4	166929130	166929130	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttctgaagatggagcctggaGaagtaaactcacttggagaa	12	6	2	4			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr4:166929130G>A	uc003irh.1	+	7	1494	c.847G>A	c.(847-849)GAA>AAA	p.E283K	TLL1_uc011cjn.1_Missense_Mutation_p.E283K|TLL1_uc011cjo.1_Missense_Mutation_p.E107K	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	283	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGAGCCTGGAGAAGTAAACTC	0.408													A	166929130	G	A	166929130	3	1	52	1	0	0	0	0	1	0	0	0	15942	943	33	4	873	4	TLL1	4	166929130	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	10065608	166929130	24225146	41	40983											
DDX60L	91351	broad.mit.edu	37	chr4	169362498	169362498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttagtaccttgaatgacCgatttctcttgtctaagaaa	6	8	2	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr4:169362498C>T	uc003irq.3	-	10	1505	c.1284G>A	c.(1282-1284)TCG>TCA	p.S428S	DDX60L_uc003irr.1_Silent_p.S428S|DDX60L_uc003irs.1_Silent_p.S155S	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	428							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTTGAATGACCGATTTCTCTT	0.353													T	169362498	C	T	169362498	2	4	52	1	0	0	0	0	0	0	0	1	4379	639	23	1		1	DDX60L	4	169362498	Silent	SNP	C	TCGA-BR-7717-01A-11D-2053-08	2433368	169362498	21791778	42	40984											
DNAH5	1767	broad.mit.edu	37	chr5	13771038	13771038	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcattggaccacctccttcTtgatttccaaactgcagtca	6	13	2	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr5:13771038T>G	uc003jfd.2	-	56	9467	c.9425A>C	c.(9424-9426)AAG>ACG	p.K3142T	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3142	AAA 4 (By similarity).				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)					CACCTCCTTCTTGATTTCCAA	0.453									Kartagener_syndrome				G	13771038	T	G	13771038	3	3	52	1	0	0	0	0	1	0	0	0	4604	1609	56	5	4545	5	DNAH5	5	13771038	Missense_Mutation	SNP	T	TCGA-BR-7717-01A-11D-2053-08		13771038	167144222	43	40985											
PRDM9	56979	broad.mit.edu	37	chr5	23510114	23510114	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacacagaagattctgatgaAgaatggacccctaggcagca	11	9	1	5			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr5:23510114A>C	uc003jgo.2	+	4	461	c.279A>C	c.(277-279)GAA>GAC	p.E93D		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	93					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						ATTCTGATGAAGAATGGACCC	0.363										HNSCC(3;0.000094)			C	23510114	A	C	23510114	3	2	52	1	0	0	0	0	1	0	0	0	12463	69	3	5	289	5	PRDM9	5	23510114	Missense_Mutation	SNP	A	TCGA-BR-7717-01A-11D-2053-08	9739076	23510114	157405146	44	40986											
RICTOR	253260	broad.mit.edu	37	chr5	38950621	38950621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttggatcactgctactaCgatgttttttgttaggcaaa	8	7	1	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr5:38950621C>T	uc003jlp.2	-	31	3353	c.3329G>A	c.(3328-3330)CGT>CAT	p.R1110H	RICTOR_uc003jlo.2_Missense_Mutation_p.R1110H|RICTOR_uc010ivf.2_Missense_Mutation_p.R825H	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	1110					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					ACTGCTACTACGATGTTTTTT	0.368													T	38950621	C	T	38950621	3	4	52	1	0	0	0	0	1	0	0	0	13358	536	19	1	1829	1	RICTOR	5	38950621	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	15440507	38950621	141964639	45	40987											
MAP1B	4131	broad.mit.edu	37	chr5	71495412	71495412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtccccctcagaagcccGtcaggatgtcgatttatgcc	10	13	2	1	rs34160030	byFrequency	TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr5:71495412G>A	uc003kbw.3	+	5	6471	c.6230G>A	c.(6229-6231)CGT>CAT	p.R2077H	MAP1B_uc010iyw.1_Missense_Mutation_p.R2094H|MAP1B_uc010iyx.1_Missense_Mutation_p.R1951H|MAP1B_uc010iyy.1_Missense_Mutation_p.R1951H	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2077						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCAGAAGCCCGTCAGGATGTC	0.473													A	71495412	G	A	71495412	3	1	52	1	0	0	0	0	1	0	0	0	9228	1145	40	1	6248	1	MAP1B	5	71495412	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	32544791	71495412	109419848	46	40988											
SIL1	64374	broad.mit.edu	37	chr5	138456726	138456726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggctgggcctgatacctGgctgaagggcctgccactca	14	13	1	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr5:138456726G>A	uc003ldm.2	-	2	259	c.242C>T	c.(241-243)CCA>CTA	p.P81L	SIL1_uc003ldn.2_Missense_Mutation_p.P80L|SIL1_uc003ldo.2_Missense_Mutation_p.P81L|SIL1_uc003ldp.2_Missense_Mutation_p.P81L	NM_022464	NP_071909	Q9H173	SIL1_HUMAN	SIL1 protein precursor	81	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCTGATACCTGGCTGAAGGGC	0.542									Marinesco-Sj_gren_syndrome				A	138456726	G	A	138456726	3	1	52	1	0	0	0	0	1	0	0	0	14321	1348	47	4	1175	4	SIL1	5	138456726	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	66961314	138456726	42458534	47	40989											
PCDHB13	56123	broad.mit.edu	37	chr5	140594778	140594778	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccaatacctgagaacgcGcctgaaactgtggttgcact	10	12	0	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr5:140594778G>A	uc003lja.1	+	1	1270	c.1083G>A	c.(1081-1083)GCG>GCA	p.A361A		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	361	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAGAACGCGCCTGAAACTG	0.448													A	140594778	G	A	140594778	2	1	52	1	0	0	0	0	0	0	0	1	11538	1074	38	1		1	PCDHB13	5	140594778	Silent	SNP	G	TCGA-BR-7717-01A-11D-2053-08	2138052	140594778	40320482	48	40990											
GABRP	2568	broad.mit.edu	37	chr5	170239126	170239126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagttcaagtttgtcttccGagaaaagatgggcaggattg	12	6	2	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr5:170239126G>A	uc003mau.2	+	10	1385	c.1187G>A	c.(1186-1188)CGA>CAA	p.R396Q	GABRP_uc011dev.1_3'UTR	NM_014211	NP_055026	O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	396	Cytoplasmic (Potential).					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTGTCTTCCGAGAAAAGATG	0.393													A	170239126	G	A	170239126	3	1	52	1	0	0	0	0	1	0	0	0	6174	1058	37	1	1221	1	GABRP	5	170239126	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	29644348	170239126	10676134	49	40991											
GPX6	257202	broad.mit.edu	37	chr6	28472219	28472219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatcatggaccttcatgggCtcccagaagagttggcttga	11	9	2	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr6:28472219C>T	uc011dlj.1	-	6	566	c.516G>A	c.(514-516)GAG>GAA	p.E172E	GPX6_uc010jrg.1_RNA	NM_182701	NP_874360	P59796	GPX6_HUMAN	glutathione peroxidase 6 precursor	172					response to oxidative stress	extracellular region	glutathione peroxidase activity			ovary(3)|pancreas(1)|skin(1)	5					Glutathione(DB00143)	CCTTCATGGGCTCCCAGAAGA	0.493													T	28472219	C	T	28472219	2	4	52	1	0	0	0	0	0	0	0	1	6744	796	28	2		2	GPX6	6	28472219	Silent	SNP	C	TCGA-BR-7717-01A-11D-2053-08		28472219	142642848	50	40992											
SCAND3	114821	broad.mit.edu	37	chr6	28539970	28539970	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgattttcaatccttcgtcGgtagccagcttcaacaactt	6	12	2	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr6:28539970G>C	uc003nlo.2	-	4	4314	c.3696C>G	c.(3694-3696)ACC>ACG	p.T1232T		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1232					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						atccttcgtcggtagccagct	0													C	28539970	G	C	28539970	2	2	52	1	0	0	0	0	0	0	0	1	13876	1103	39	5		5	SCAND3	6	28539970	Silent	SNP	G	TCGA-BR-7717-01A-11D-2053-08	67751	28539970	142575097	51	40993											
SCAND3	114821	broad.mit.edu	37	chr6	28540574	28540574	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atcttgaattcaatgaattaGattttatataattcacaatt	3	4	3	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr6:28540574G>C	uc003nlo.2	-	4	3710	c.3092C>G	c.(3091-3093)TCT>TGT	p.S1031C		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1031					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						caatgaattagattttatata	0													C	28540574	G	C	28540574	3	2	52	1	0	0	0	0	1	0	0	0	13876	942	33	5	889	5	SCAND3	6	28540574	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	604	28540574	142574493	52	40994											
OR5V1	81696	broad.mit.edu	37	chr6	29323795	29323795	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagttccctagaaaataatAcataggtgtatgcaggtgtg	10	6	0	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr6:29323795A>G	uc011dlo.1	-	1	260	c.178T>C	c.(178-180)TAT>CAT	p.Y60H		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V,	60	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|kidney(1)	4						AGAAAATAATACATAGGTGTA	0.398													G	29323795	A	G	29323795	3	3	52	1	0	0	0	0	1	0	0	0	11184	391	14	3	790	3	OR5V1	6	29323795	Missense_Mutation	SNP	A	TCGA-BR-7717-01A-11D-2053-08	783221	29323795	141791272	53	40995											
PACSIN1	29993	broad.mit.edu	37	chr6	34499470	34499470	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtgagaccaacgggggCgccaacccctttgaggacga	15	12	0	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr6:34499470C>T	uc003ojo.2	+	9	1337	c.1131C>T	c.(1129-1131)GGC>GGT	p.G377G	PACSIN1_uc003ojp.2_Silent_p.G377G	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	377					endocytosis		protein kinase activity				0						CCAACGGGGGCGCCAACCCCT	0.627													T	34499470	C	T	34499470	2	4	52	1	0	0	0	0	0	0	0	1	11374	755	27	1		1	PACSIN1	6	34499470	Silent	SNP	C	TCGA-BR-7717-01A-11D-2053-08	5175675	34499470	136615597	54	40996											
USP49	25862	broad.mit.edu	37	chr6	41773985	41773985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacgcctggggccatggccGgctggcgacgcagcttgagt	17	12	0	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr6:41773985G>A	uc003ori.2	-	4	959	c.737C>T	c.(736-738)CCG>CTG	p.P246L		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	246					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCCATGGCCGGCTGGCGACG	0.512													A	41773985	G	A	41773985	3	1	52	1	0	0	0	0	1	0	0	0	17077	1116	39	1	1201	1	USP49	6	41773985	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	7274515	41773985	129341082	55	40997											
AARS2	57505	broad.mit.edu	37	chr6	44268376	44268376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggccaccactcgtgagcCccacgccttgccccccatgt	9	19	0	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr6:44268376C>T	uc010jza.1	-	22	2869	c.2866G>A	c.(2866-2868)GGC>AGC	p.G956S	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron|TCTE1_uc003oxi.2_5'Flank	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	956					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	ACTCGTGAGCCCCACGCCTTG	0.617													T	44268376	C	T	44268376	3	4	52	1	0	0	0	0	1	0	0	0	20	623	22	4	95	4	AARS2	6	44268376	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	2494391	44268376	126846691	56	40998											
SYNCRIP	10492	broad.mit.edu	37	chr6	86346762	86346762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctattgagaccagtgagtgGatccatcattagacgaagat	10	7	2	4			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr6:86346762G>A	uc003pla.2	-	6	1130	c.589C>T	c.(589-591)CCA>TCA	p.P197S	SYNCRIP_uc003pku.2_Missense_Mutation_p.P197S|SYNCRIP_uc003pkw.2_Missense_Mutation_p.P197S|SYNCRIP_uc003pky.2_Missense_Mutation_p.P99S|SYNCRIP_uc003pkv.2_Missense_Mutation_p.P197S|SYNCRIP_uc003pkx.2_Missense_Mutation_p.P45S|SYNCRIP_uc003pkz.2_Missense_Mutation_p.P197S	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA	197	RRM 1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			ovary(2)	2		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CCAGTGAGTGGATCCATCATT	0.403													A	86346762	G	A	86346762	3	1	52	1	0	0	0	0	1	0	0	0	15441	1174	41	4	1352	4	SYNCRIP	6	86346762	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	42078386	86346762	84768305	57	40999											
POU3F2	5454	broad.mit.edu	37	chr6	99284012	99284012	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggagggactctgccgggCgccgaggatgtgtacggggg	20	11	1	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr6:99284012C>T	uc003ppe.2	+	1	1433	c.1263C>T	c.(1261-1263)GGC>GGT	p.G421G		NM_005604	NP_005595	P20265	PO3F2_HUMAN	POU domain, class 3, transcription factor 2	421					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		CTCTGCCGGGCGCCGAGGATG	0.627													T	99284012	C	T	99284012	2	4	52	1	0	0	0	0	0	0	0	1	12275	755	27	1		1	POU3F2	6	99284012	Silent	SNP	C	TCGA-BR-7717-01A-11D-2053-08	12937250	99284012	71831055	58	41000											
LAMA2	3908	broad.mit.edu	37	chr6	129634198	129634198	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caacctgtgattcagagactAaaaaatgctcctgtagtgat	8	8	1	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr6:129634198A>T	uc003qbn.2	+	23	3472	c.3367A>T	c.(3367-3369)AAA>TAA	p.K1123*	LAMA2_uc003qbo.2_Nonsense_Mutation_p.K1123*	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1123	Laminin EGF-like 13.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTCAGAGACTAAAAAATGCTC	0.493													T	129634198	A	T	129634198	4	4	52	1	0	0	0	0	0	1	0	0	8606	363	13	5	3457	5	LAMA2	6	129634198	Nonsense_Mutation	SNP	A	TCGA-BR-7717-01A-11D-2053-08	30350186	129634198	41480869	59	41001											
IL20RA	53832	broad.mit.edu	37	chr6	137329826	137329826	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgtgtacgcagtaaagagTgttcggctccagccaggtga	13	10	0	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr6:137329826T>C	uc003qhj.2	-	5	1067	c.634A>G	c.(634-636)ACT>GCT	p.T212A	IL20RA_uc011edl.1_Missense_Mutation_p.T163A|IL20RA_uc003qhk.2_Missense_Mutation_p.T101A|IL20RA_uc003qhi.2_5'UTR	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha precursor	212	Extracellular (Potential).|Fibronectin type-III 2.					integral to membrane	receptor activity			ovary(2)|skin(2)	4	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CAGTAAAGAGTGTTCGGCTCC	0.547													C	137329826	T	C	137329826	3	2	52	1	0	0	0	0	1	0	0	0	7668	1696	59	3	1039	3	IL20RA	6	137329826	Missense_Mutation	SNP	T	TCGA-BR-7717-01A-11D-2053-08	7695628	137329826	33785241	60	41002											
RAET1E	135250	broad.mit.edu	37	chr6	150210686	150210686	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatttctctccattggtggcGaactgccaggatgcaccagt	11	11	1	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr6:150210686G>A	uc003qnl.1	-	3	480	c.420C>T	c.(418-420)TTC>TTT	p.F140F	uc003qni.1_Intron|RAET1E_uc003qnj.2_Silent_p.F140F|RAET1E_uc003qnk.1_Silent_p.F104F|RAET1E_uc010kih.1_RNA	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E precursor	140	Extracellular (Potential).|MHC class I alpha-2 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CATTGGTGGCGAACTGCCAGG	0.468													A	150210686	G	A	150210686	2	1	52	1	0	0	0	0	0	0	0	1	12999	1049	37	1		1	RAET1E	6	150210686	Silent	SNP	G	TCGA-BR-7717-01A-11D-2053-08	12880860	150210686	20904381	61	41003											
SDK1	221935	broad.mit.edu	37	chr7	4249744	4249744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcctgcggcggccaacgGcatcctgcagggctatcggg	16	14	0	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr7:4249744G>A	uc003smx.2	+	38	5628	c.5489G>A	c.(5488-5490)GGC>GAC	p.G1830D	SDK1_uc010kso.2_Missense_Mutation_p.G1086D|SDK1_uc003smy.2_Missense_Mutation_p.G317D	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1830	Fibronectin type-III 12.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCGGCCAACGGCATCCTGCAG	0.652													A	4249744	G	A	4249744	3	1	52	1	0	0	0	0	1	0	0	0	13968	1203	42	2	5639	2	SDK1	7	4249744	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08		4249744	154888919	62	41004											
DGKB	1607	broad.mit.edu	37	chr7	14378185	14378185	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatctgtgacggtggtccTtttgtcagacccttttttct	10	10	3	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr7:14378185T>C	uc003ssz.2	-	22	2267	c.2080A>G	c.(2080-2082)AGG>GGG	p.R694G	DGKB_uc011jxt.1_Missense_Mutation_p.R675G|DGKB_uc003sta.2_Missense_Mutation_p.R694G|DGKB_uc011jxu.1_Missense_Mutation_p.R693G	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	694					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)	ACGGTGGTCCTTTTGTCAGAC	0.393													C	14378185	T	C	14378185	3	2	52	1	0	0	0	0	1	0	0	0	4466	1608	56	3	365	3	DGKB	7	14378185	Missense_Mutation	SNP	T	TCGA-BR-7717-01A-11D-2053-08	10128441	14378185	144760478	63	41005											
BBS9	27241	broad.mit.edu	37	chr7	33397540	33397540	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctaccaggtcagccttcaaaAactgcaagccacaaaattac	5	13	2	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr7:33397540A>T	uc003tdn.1	+	16	2139	c.1626A>T	c.(1624-1626)AAA>AAT	p.K542N	BBS9_uc003tdo.1_Missense_Mutation_p.K507N|BBS9_uc003tdp.1_Missense_Mutation_p.K537N|BBS9_uc003tdq.1_Missense_Mutation_p.K502N|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.K66N|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Missense_Mutation_p.K420N	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	542					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			AGCCTTCAAAAACTGCAAGCC	0.383									Bardet-Biedl_syndrome				T	33397540	A	T	33397540	3	4	52	1	0	0	0	0	1	0	0	0	1342	11	1	5	1684	5	BBS9	7	33397540	Missense_Mutation	SNP	A	TCGA-BR-7717-01A-11D-2053-08	19019355	33397540	125741123	64	41006											
ABCA13	154664	broad.mit.edu	37	chr7	48314870	48314870	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtctccccaaggtgaAgattcaccatgttcaaatga	7	12	3	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr7:48314870A>G	uc003toq.2	+	17	5632	c.5607A>G	c.(5605-5607)GAA>GAG	p.E1869E	ABCA13_uc010kyr.2_Silent_p.E1372E	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1869					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CCCAAGGTGAAGATTCACCAT	0.428													G	48314870	A	G	48314870	2	3	52	1	0	0	0	0	0	0	0	1	31	69	3	3		3	ABCA13	7	48314870	Silent	SNP	A	TCGA-BR-7717-01A-11D-2053-08	14917330	48314870	110823793	65	41007											
MAGI2	9863	broad.mit.edu	37	chr7	77973216	77973216	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagcccatgttgctctttttTagggtggtgctgaggaatgt	13	6	1	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr7:77973216T>A	uc003ugx.2	-	9	1541	c.1287A>T	c.(1285-1287)CTA>CTT	p.L429L	MAGI2_uc003ugy.2_Silent_p.L429L|MAGI2_uc010ldx.1_Silent_p.L38L|MAGI2_uc010ldy.1_Silent_p.L38L|MAGI2_uc011kgr.1_Silent_p.L261L|MAGI2_uc011kgs.1_Silent_p.L266L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	429	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGCTCTTTTTTAGGGTGGTGC	0.463													A	77973216	T	A	77973216	2	1	52	1	0	0	0	0	0	0	0	1	9191	1741	61	5		5	MAGI2	7	77973216	Silent	SNP	T	TCGA-BR-7717-01A-11D-2053-08	29658346	77973216	81165447	66	41008											
DOCK4	9732	broad.mit.edu	37	chr7	111509683	111509683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctgtgatccggtccaCgtaccatttgagcactttga	9	11	1	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr7:111509683C>T	uc003vfx.2	-	21	2325	c.2056G>A	c.(2056-2058)GTG>ATG	p.V686M	DOCK4_uc003vfw.2_Missense_Mutation_p.V127M|DOCK4_uc003vfy.2_Missense_Mutation_p.V686M|DOCK4_uc003vga.1_Missense_Mutation_p.V291M	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	686					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				ATCCGGTCCACGTACCATTTG	0.418													T	111509683	C	T	111509683	3	4	52	1	0	0	0	0	1	0	0	0	4689	536	19	1	3972	1	DOCK4	7	111509683	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	33536467	111509683	47628980	67	41009											
SGCZ	137868	broad.mit.edu	37	chr8	13959935	13959935	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgcaggtggccttgaAgtctcctgcagcagcactca	10	14	2	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr8:13959935A>C	uc003wwq.2	-	7	1354	c.694T>G	c.(694-696)TTC>GTC	p.F232V	SGCZ_uc010lss.2_Missense_Mutation_p.F185V	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	sarcoglycan zeta	219	Extracellular (Potential).				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				ovary(2)|central_nervous_system(1)	3				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GTGGCCTTGAAGTCTCCTGCA	0.512													C	13959935	A	C	13959935	3	2	52	1	0	0	0	0	1	0	0	0	14204	72	3	5	252	5	SGCZ	8	13959935	Missense_Mutation	SNP	A	TCGA-BR-7717-01A-11D-2053-08		13959935	132404087	68	41010											
SGCZ	137868	broad.mit.edu	37	chr8	13965704	13965704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggctctgctctgatgtgCggcgtctccacagagtgccc	13	13	3	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr8:13965704C>T	uc003wwq.2	-	6	1248	c.588G>A	c.(586-588)CCG>CCA	p.P196P	SGCZ_uc010lss.2_Silent_p.P149P	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	sarcoglycan zeta	183	Extracellular (Potential).				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				ovary(2)|central_nervous_system(1)	3				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CTCTGATGTGCGGCGTCTCCA	0.463													T	13965704	C	T	13965704	2	4	52	1	0	0	0	0	0	0	0	1	14204	755	27	1		1	SGCZ	8	13965704	Silent	SNP	C	TCGA-BR-7717-01A-11D-2053-08	5769	13965704	132398318	69	41011											
EIF4EBP1	1978	broad.mit.edu	37	chr8	37914619	37914619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaccaggatcatctatgacCggaaattcctgatggagtgt	11	8	2	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr8:37914619C>T	uc003xks.2	+	2	238	c.166C>T	c.(166-168)CGG>TGG	p.R56W		NM_004095	NP_004086	Q13541	4EBP1_HUMAN	eukaryotic translation initiation factor 4E	56					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|positive regulation of mitotic cell cycle|TOR signaling cascade|translation	cytosol					0	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)				CATCTATGACCGGAAATTCCT	0.552													T	37914619	C	T	37914619	3	4	52	1	0	0	0	0	1	0	0	0	5032	643	23	1	172	1	EIF4EBP1	8	37914619	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	23948915	37914619	108449403	70	41012											
AP3M2	10947	broad.mit.edu	37	chr8	42019858	42019858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagtggtgccttggcgaCggactggggtgaaatatacc	15	8	1	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr8:42019858C>T	uc003xop.2	+	5	796	c.505C>T	c.(505-507)CGG>TGG	p.R169W	AP3M2_uc003xoo.2_Missense_Mutation_p.R169W|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Missense_Mutation_p.R54W|AP3M2_uc003xor.1_Missense_Mutation_p.R169W	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	169					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GCCTTGGCGACGGACTGGGGT	0.418													T	42019858	C	T	42019858	3	4	52	1	0	0	0	0	1	0	0	0	748	527	19	1	515	1	AP3M2	8	42019858	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	4105239	42019858	104344164	71	41013											
PXDNL	137902	broad.mit.edu	37	chr8	52321502	52321502	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgtaaacgttggagccatcGatgtaggctgtttgctggtt	13	8	0	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr8:52321502G>A	uc003xqu.3	-	17	2783	c.2682C>T	c.(2680-2682)ATC>ATT	p.I894I	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	894					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGGAGCCATCGATGTAGGCTG	0.622													A	52321502	G	A	52321502	2	1	52	1	0	0	0	0	0	0	0	1	12848	1048	37	1		1	PXDNL	8	52321502	Silent	SNP	G	TCGA-BR-7717-01A-11D-2053-08	10301644	52321502	94042520	72	41014											
ASAP1	50807	broad.mit.edu	37	chr8	131073067	131073067	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggcaggtccttcatctgtgGtttgggaggtaagtctgaga	16	6	3	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr8:131073067G>C	uc003yta.1	-	27	2978	c.2950C>G	c.(2950-2952)CCA>GCA	p.P984A	ASAP1_uc003ysz.1_Missense_Mutation_p.P795A|ASAP1_uc011liw.1_Missense_Mutation_p.P977A	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	984	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						TTCATCTGTGGTTTGGGAGGT	0.572													C	131073067	G	C	131073067	3	2	52	1	0	0	0	0	1	0	0	0	1010	1261	44	5	451	5	ASAP1	8	131073067	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	78751565	131073067	15290955	73	41015											
RPL8	6132	broad.mit.edu	37	chr8	146015800	146015800	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgccttatatttgtggtaCgcccggccagccttcaagat	9	11	1	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr8:146015800C>T	uc003zeb.2	-	5	666	c.555G>A	c.(553-555)GCG>GCA	p.A185A	RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Silent_p.A149A|RPL8_uc003zec.2_Silent_p.A185A	NM_033301	NP_150644	P62917	RL8_HUMAN	ribosomal protein L8	185					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome				0	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		ATTTGTGGTACGCCCGGCCAG	0.542													T	146015800	C	T	146015800	2	4	52	1	0	0	0	0	0	0	0	1	13602	523	19	1		1	RPL8	8	146015800	Silent	SNP	C	TCGA-BR-7717-01A-11D-2053-08	14942733	146015800	348222	74	41016											
GLDC	2731	broad.mit.edu	37	chr9	6610288	6610288	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtcacacaccatggtcTggtagttgagtaaactctcc	9	10	3	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr9:6610288T>C	uc003zkc.2	-	4	732	c.539A>G	c.(538-540)CAG>CGG	p.Q180R		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	180					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CACCATGGTCTGGTAGTTGAG	0.547													C	6610288	T	C	6610288	3	2	52	1	0	0	0	0	1	0	0	0	6433	1580	55	3	2611	3	GLDC	9	6610288	Missense_Mutation	SNP	T	TCGA-BR-7717-01A-11D-2053-08		6610288	134603143	75	41017											
GRIN3A	116443	broad.mit.edu	37	chr9	104449347	104449347	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attctgggtaaggaggaggaAgtcggtgatgttccagtctt	15	5	2	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr9:104449347A>C	uc004bbp.1	-	2	1436	c.835T>G	c.(835-837)TTC>GTC	p.F279V	GRIN3A_uc004bbq.1_Missense_Mutation_p.F279V	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	279	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGGAGGAGGAAGTCGGTGATG	0.468													C	104449347	A	C	104449347	3	2	52	1	0	0	0	0	1	0	0	0	6783	72	3	5	2544	5	GRIN3A	9	104449347	Missense_Mutation	SNP	A	TCGA-BR-7717-01A-11D-2053-08	97839059	104449347	36764084	76	41018											
FKBP15	23307	broad.mit.edu	37	chr9	115955819	115955819	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggagttagatttggtacgaaGagctggctccctgaaagcaa	13	7	0	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr9:115955819G>C	uc004bgs.2	-	11	1136	c.1018C>G	c.(1018-1020)CTT>GTT	p.L340V	FKBP15_uc010muu.1_Missense_Mutation_p.L404V|FKBP15_uc011lxd.1_Missense_Mutation_p.L272V|FKBP15_uc010mut.1_Missense_Mutation_p.L208V|FKBP15_uc004bgt.2_Missense_Mutation_p.L340V	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	340					endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3						TTGGTACGAAGAGCTGGCTCC	0.274													C	115955819	G	C	115955819	3	2	52	1	0	0	0	0	1	0	0	0	5905	942	33	5	2713	5	FKBP15	9	115955819	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	11506472	115955819	25257612	77	41019											
NUP188	23511	broad.mit.edu	37	chr9	131749930	131749930	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atacacagaagcaggacagaCagttatcaatatcatgggca	9	8	2	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr9:131749930C>G	uc004bws.1	+	23	2349	c.2327C>G	c.(2326-2328)ACA>AGA	p.T776R	NUP188_uc004bwu.2_Missense_Mutation_p.T119R	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	776					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						GCAGGACAGACAGTTATCAAT	0.527													G	131749930	C	G	131749930	3	3	52	1	0	0	0	0	1	0	0	0	10758	478	17	5	2417	5	NUP188	9	131749930	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	15794111	131749930	9463501	78	41020											
BMI1	648	broad.mit.edu	37	chr10	22616977	22616977	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcttatccattgaattctttGaccagaacaggtaaaatctt	6	8	2	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr10:22616977G>A	uc001irh.2	+	6	1054	c.415G>A	c.(415-417)GAC>AAC	p.D139N	BMI1_uc009xkg.2_Missense_Mutation_p.D282N	NM_005180	NP_005171	P35226	BMI1_HUMAN	BMI1 polycomb ring finger oncogene	139					hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			ovary(1)|skin(1)	2						TGAATTCTTTGACCAGAACAG	0.308													A	22616977	G	A	22616977	3	1	52	1	0	0	0	0	1	0	0	0	1455	1290	45	4	433	4	BMI1	10	22616977	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08		22616977	112917770	79	41021											
ABCC2	1244	broad.mit.edu	37	chr10	101577118	101577118	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attcagaatggcaccataaaGgacaacatcctttttggaac	7	9	1	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr10:101577118G>T	uc001kqf.2	+	17	2287	c.2148G>T	c.(2146-2148)AAG>AAT	p.K716N		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	716	Cytoplasmic (By similarity).|ABC transporter 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GCACCATAAAGGACAACATCC	0.488													T	101577118	G	T	101577118	3	4	52	1	0	0	0	0	1	0	0	0	53	991	35	5	2214	5	ABCC2	10	101577118	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	78960141	101577118	33957629	80	41022											
SORCS3	22986	broad.mit.edu	37	chr10	106899211	106899211	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcgaagagaggcctttgcTcagataaagctgcctaagta	10	8	1	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr10:106899211T>C	uc001kyi.1	+	8	1496	c.1269T>C	c.(1267-1269)GCT>GCC	p.A423A		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	423	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGGCCTTTGCTCAGATAAAGC	0.512													C	106899211	T	C	106899211	2	2	52	1	0	0	0	0	0	0	0	1	14932	1538	54	3		3	SORCS3	10	106899211	Silent	SNP	T	TCGA-BR-7717-01A-11D-2053-08	5322093	106899211	28635536	81	41023											
HMX2	3167	broad.mit.edu	37	chr10	124909459	124909459	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctcggctgagctggaggcGgccaacatggcgcacgcgtc	15	14	1	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr10:124909459G>T	uc001lhc.1	+	2	899	c.642G>T	c.(640-642)GCG>GCT	p.A214A		NM_005519	NP_005510	A2RU54	HMX2_HUMAN	H6 family homeobox 2	214					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		AGCTGGAGGCGGCCAACATGG	0.677													T	124909459	G	T	124909459	2	4	52	1	0	0	0	0	0	0	0	1	7247	1103	39	5		5	HMX2	10	124909459	Silent	SNP	G	TCGA-BR-7717-01A-11D-2053-08	18010248	124909459	10625288	82	41024											
AP2A2	161	broad.mit.edu	37	chr11	992584	992584	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttgaacttgatccgaAttgctggtgattacgtgagt	10	8	1	4			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr11:992584A>G	uc001lss.2	+	11	1532	c.1351A>G	c.(1351-1353)ATT>GTT	p.I451V	AP2A2_uc001lst.1_Missense_Mutation_p.I452V|AP2A2_uc009yco.1_RNA|AP2A2_uc009ycq.1_Missense_Mutation_p.I42V	NM_012305	NP_036437	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2	451					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTTGATCCGAATTGCTGGTGA	0.552													G	992584	A	G	992584	3	3	52	1	0	0	0	0	1	0	0	0	740	101	4	3	1393	3	AP2A2	11	992584	Missense_Mutation	SNP	A	TCGA-BR-7717-01A-11D-2053-08		992584	134013932	83	41025											
RBMXL2	27288	broad.mit.edu	37	chr11	7111074	7111074	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggagagtacacccaccgCgattacggccactccagtgt	10	16	0	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr11:7111074C>T	uc001mfc.2	+	1	910	c.723C>T	c.(721-723)CGC>CGT	p.R241R		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	241	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACACCCACCGCGATTACGGCC	0.657													T	7111074	C	T	7111074	2	4	52	1	0	0	0	0	0	0	0	1	13154	755	27	1		1	RBMXL2	11	7111074	Silent	SNP	C	TCGA-BR-7717-01A-11D-2053-08	6118490	7111074	127895442	84	41026											
MS4A14	84689	broad.mit.edu	37	chr11	60183029	60183029	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgatgattcaacaacaaaTgcacaatctgttatctttgg	7	7	3	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr11:60183029T>C	uc001npj.2	+	5	1153	c.588T>C	c.(586-588)AAT>AAC	p.N196N	MS4A14_uc001npi.2_Silent_p.N84N|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Silent_p.N179N|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	196						integral to membrane	receptor activity			breast(1)	1						CAACAACAAATGCACAATCTG	0.383													C	60183029	T	C	60183029	2	2	52	1	0	0	0	0	0	0	0	1	9858	1461	51	3		3	MS4A14	11	60183029	Silent	SNP	T	TCGA-BR-7717-01A-11D-2053-08	53071955	60183029	74823487	85	41027											
SF1	7536	broad.mit.edu	37	chr11	64536711	64536711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atacctgttatcgtcttcccGaagggtcccatttaagcgag	9	11	1	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr11:64536711G>A	uc001obb.1	-	7	1140	c.763C>T	c.(763-765)CGG>TGG	p.R255W	SF1_uc010rnm.1_5'Flank|SF1_uc010rnn.1_Missense_Mutation_p.R229W|SF1_uc001oaz.1_Missense_Mutation_p.R380W|SF1_uc001oba.1_Missense_Mutation_p.R255W|SF1_uc001obc.1_Missense_Mutation_p.R255W|SF1_uc001obd.1_Missense_Mutation_p.R255W|SF1_uc001obe.1_Missense_Mutation_p.R140W|SF1_uc010rno.1_Missense_Mutation_p.R140W	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	255				R->A: Slightly decreases RNA-binding.	nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3						TCGTCTTCCCGAAGGGTCCCA	0.463													A	64536711	G	A	64536711	3	1	52	1	0	0	0	0	1	0	0	0	14145	1057	37	1	1322	1	SF1	11	64536711	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	4353682	64536711	70469805	86	41028											
PELI3	246330	broad.mit.edu	37	chr11	66240870	66240870	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatactgcccgcatctatgcCgctggcttcgatgcctctag	9	14	2	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr11:66240870C>T	uc001oic.3	+	6	779	c.615C>T	c.(613-615)GCC>GCT	p.A205A	PELI3_uc001oib.2_Silent_p.A205A|PELI3_uc001oid.3_Silent_p.A181A|PELI3_uc001oie.3_Silent_p.A56A|PELI3_uc010rpd.1_Silent_p.A46A	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN	pellino 3 alpha isoform 1	205						cytosol	protein binding			ovary(1)	1						GCATCTATGCCGCTGGCTTCG	0.622													T	66240870	C	T	66240870	2	4	52	1	0	0	0	0	0	0	0	1	11723	639	23	1		1	PELI3	11	66240870	Silent	SNP	C	TCGA-BR-7717-01A-11D-2053-08	1704159	66240870	68765646	87	41029											
ODZ4	26011	broad.mit.edu	37	chr11	78467865	78467865	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccctccatcaaaggggTtctccccggggattatgtgc	10	14	3	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr11:78467865T>G	uc001ozl.3	-	19	3204	c.2741A>C	c.(2740-2742)AAC>ACC	p.N914T		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	914	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						ATCAAAGGGGTTCTCCCCGGG	0.577													G	78467865	T	G	78467865	3	3	52	1	0	0	0	0	1	0	0	0	10837	1725	60	5	5632	5	ODZ4	11	78467865	Missense_Mutation	SNP	T	TCGA-BR-7717-01A-11D-2053-08	12226995	78467865	56538651	88	41030											
ATM	472	broad.mit.edu	37	chr11	108214049	108214049	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaagatggtgctcataaaaGatacaggccaaatgatttca	9	6	2	4			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr11:108214049G>A	uc001pkb.1	+	57	8754	c.8369G>A	c.(8368-8370)AGA>AAA	p.R2790K	ATM_uc009yxr.1_Missense_Mutation_p.R2790K|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.R1442K	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2790	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GCTCATAAAAGATACAGGCCA	0.398			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			A	108214049	G	A	108214049	3	1	52	1	0	0	0	0	1	0	0	0	1109	942	33	4	8591	4	ATM	11	108214049	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	29746184	108214049	26792467	89	41031											
TECTA	7007	broad.mit.edu	37	chr11	121038845	121038845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacatcatcaccagggaccGcacgatcaatgtggaatttt	8	11	3	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr11:121038845G>A	uc010rzo.1	+	18	5669	c.5669G>A	c.(5668-5670)CGC>CAC	p.R1890H		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1890	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACCAGGGACCGCACGATCAAT	0.468													A	121038845	G	A	121038845	3	1	52	1	0	0	0	0	1	0	0	0	15744	1087	38	1	5739	1	TECTA	11	121038845	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	12824796	121038845	13967671	90	41032											
OR8D1	283159	broad.mit.edu	37	chr11	124180557	124180557	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgcccactactgtgaccaCatagattcccaggaacagga	9	12	0	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr11:124180557C>A	uc010sag.1	-	1	106	c.106G>T	c.(106-108)GTG>TTG	p.V36L		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	36	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ACTGTGACCACATAGATTCCC	0.493													A	124180557	C	A	124180557	3	1	52	1	0	0	0	0	1	0	0	0	11231	478	17	5	823	5	OR8D1	11	124180557	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	3141712	124180557	10825959	91	41033											
CDON	50937	broad.mit.edu	37	chr11	125889542	125889542	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgttccagccattttccccgGattttatagcgcacctcagc	7	14	1	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr11:125889542G>T	uc009zbw.2	-	4	596	c.468C>A	c.(466-468)ATC>ATA	p.I156I	CDON_uc001qdc.3_Silent_p.I156I|CDON_uc001qdd.3_RNA|CDON_uc009zbx.2_Silent_p.I156I	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	156	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ATTTTCCCCGGATTTTATAGC	0.453													T	125889542	G	T	125889542	2	4	52	1	0	0	0	0	0	0	0	1	3170	1164	41	5		5	CDON	11	125889542	Silent	SNP	G	TCGA-BR-7717-01A-11D-2053-08	1708985	125889542	9116974	92	41034											
NTM	50863	broad.mit.edu	37	chr11	132184473	132184473	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaaagaaaggggtgaaAgtggaaaacagacctttcct	13	5	0	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr11:132184473A>G	uc001qgp.2	+	6	1474	c.810A>G	c.(808-810)AAA>AAG	p.K270K	NTM_uc001qgm.2_Silent_p.K270K|NTM_uc010sch.1_Silent_p.K261K|NTM_uc010sci.1_Silent_p.K270K|NTM_uc010scj.1_Silent_p.K229K|NTM_uc001qgo.2_Silent_p.K270K|NTM_uc001qgq.2_Silent_p.K270K|NTM_uc001qgr.2_Silent_p.K52K	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	270	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						AAGGGGTGAAAGTGGAAAACA	0.428													G	132184473	A	G	132184473	2	3	52	1	0	0	0	0	0	0	0	1	10699	69	3	3		3	NTM	11	132184473	Silent	SNP	A	TCGA-BR-7717-01A-11D-2053-08	6294931	132184473	2822043	93	41035											
RASSF8	11228	broad.mit.edu	37	chr12	26217559	26217559	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgtgcagctcattctaCgacgaactgggccgtctctc	11	12	3	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr12:26217559C>T	uc001rgx.2	+	3	453	c.232C>T	c.(232-234)CGA>TGA	p.R78*	RASSF8_uc001rgy.2_Nonsense_Mutation_p.R78*|RASSF8_uc001rgz.2_Nonsense_Mutation_p.R78*|RASSF8_uc009zjd.1_Nonsense_Mutation_p.R78*|RASSF8_uc009zje.1_Nonsense_Mutation_p.R78*	NM_007211	NP_009142	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family	78	Ras-associating.				signal transduction						0	Colorectal(261;0.0847)					GCTCATTCTACGACGAACTGG	0.468													T	26217559	C	T	26217559	4	4	52	1	0	0	0	0	0	1	0	0	13092	528	19	1	238	1	RASSF8	12	26217559	Nonsense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08		26217559	107634336	94	41036											
ADAMTS20	80070	broad.mit.edu	37	chr12	43925975	43925975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttctaagaaatattcaccGttctgtcctttaaatgttcc	6	9	3	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr12:43925975G>A	uc010skx.1	-	3	477	c.477C>T	c.(475-477)AAC>AAT	p.N159N		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	159						proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AATATTCACCGTTCTGTCCTT	0.338													A	43925975	G	A	43925975	2	1	52	1	0	0	0	0	0	0	0	1	266	1136	40	1		1	ADAMTS20	12	43925975	Silent	SNP	G	TCGA-BR-7717-01A-11D-2053-08	17708416	43925975	89925920	95	41037											
KRT73	319101	broad.mit.edu	37	chr12	53005086	53005086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaggtcatccccatgccGgccggctgctagctgcagct	11	15	2	0	rs150273425		TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr12:53005086G>A	uc001sas.2	-	6	1047	c.1012C>T	c.(1012-1014)CGG>TGG	p.R338W		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	338	Rod.|Coil 2.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCCCATGCCGGCCGGCTGCT	0.537													A	53005086	G	A	53005086	3	1	52	1	0	0	0	0	1	0	0	0	8486	1115	39	1	626	1	KRT73	12	53005086	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	9079111	53005086	80846809	96	41038											
PPFIA2	8499	broad.mit.edu	37	chr12	81660768	81660768	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttcccagggccaagaggTtattgtattctctttcaaga	9	9	2	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr12:81660768T>G	uc001szo.1	-	30	3679	c.3518A>C	c.(3517-3519)AAC>ACC	p.N1173T	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	1072										ovary(3)|lung(2)|pancreas(1)	6						GGCCAAGAGGTTATTGTATTC	0.358													G	81660768	T	G	81660768	3	3	52	1	0	0	0	0	1	0	0	0	12310	1725	60	5	267	5	PPFIA2	12	81660768	Missense_Mutation	SNP	T	TCGA-BR-7717-01A-11D-2053-08	28655682	81660768	52191127	97	41039											
UBE3B	89910	broad.mit.edu	37	chr12	109936111	109936111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagaccaagatcgatgccGtgatgtatgtgaaagtttag	12	5	0	4			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr12:109936111G>A	uc001top.2	+	11	1496	c.893G>A	c.(892-894)CGT>CAT	p.R298H	UBE3B_uc001toq.2_Missense_Mutation_p.R298H|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.R298H	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	298					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						GATCGATGCCGTGATGTATGT	0.438													A	109936111	G	A	109936111	3	1	52	1	0	0	0	0	1	0	0	0	16877	1145	40	1	927	1	UBE3B	12	109936111	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	28275343	109936111	23915784	98	41040											
MAB21L1	4081	broad.mit.edu	37	chr13	36049983	36049983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcgctcaacttcagcaccGcgcagccgggcagtgagcca	12	16	2	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr13:36049983G>A	uc001uvc.2	-	1	850	c.293C>T	c.(292-294)GCG>GTG	p.A98V	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	98					anatomical structure morphogenesis	nucleus				ovary(2)	2		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CTTCAGCACCGCGCAGCCGGG	0.597													A	36049983	G	A	36049983	3	1	52	1	0	0	0	0	1	0	0	0	9141	1087	38	1	790	1	MAB21L1	13	36049983	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08		36049983	79119895	99	41041											
CCNA1	8900	broad.mit.edu	37	chr13	37014131	37014131	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaggaaatatgaagagatAtatcctcctgaagtagacga	9	8	0	4			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr13:37014131A>G	uc001uvr.3	+	6	1259	c.909A>G	c.(907-909)ATA>ATG	p.I303M	CCNA1_uc010teo.1_Missense_Mutation_p.I259M|CCNA1_uc010abq.2_Missense_Mutation_p.I259M|CCNA1_uc010abp.2_Missense_Mutation_p.I259M|CCNA1_uc001uvs.3_Missense_Mutation_p.I302M|CCNA1_uc010abr.2_Intron	NM_003914	NP_003905	P78396	CCNA1_HUMAN	cyclin A1 isoform a	303					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			lung(2)|skin(2)|ovary(1)	5		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		ATGAAGAGATATATCCTCCTG	0.408													G	37014131	A	G	37014131	3	3	52	1	0	0	0	0	1	0	0	0	2909	439	16	3	931	3	CCNA1	13	37014131	Missense_Mutation	SNP	A	TCGA-BR-7717-01A-11D-2053-08	964148	37014131	78155747	100	41042											
STOML3	161003	broad.mit.edu	37	chr13	39542650	39542650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacccggatcccccacagttCggtggcatcatcaagtaaag	9	14	2	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr13:39542650C>T	uc001uwx.2	-	6	676	c.538G>A	c.(538-540)GAA>AAA	p.E180K	STOML3_uc010tez.1_Missense_Mutation_p.E171K	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	stomatin-like 3 isoform 1	180	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		CCCCACAGTTCGGTGGCATCA	0.468													T	39542650	C	T	39542650	3	4	52	1	0	0	0	0	1	0	0	0	15314	893	31	1	345	1	STOML3	13	39542650	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	2528519	39542650	75627228	101	41043											
MYCBP2	23077	broad.mit.edu	37	chr13	77642839	77642839	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agagcagctcaaagcagtagGcatcagaggaggcatcttca	12	9	4	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr13:77642839G>C	uc001vkf.2	-	71	12009	c.11918C>G	c.(11917-11919)GCC>GGC	p.A3973G	MYCBP2_uc010aev.2_Missense_Mutation_p.A3377G|MYCBP2_uc001vke.2_Missense_Mutation_p.A590G	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3973					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AAAGCAGTAGGCATCAGAGGA	0.478													C	77642839	G	C	77642839	3	2	52	1	0	0	0	0	1	0	0	0	10018	1203	42	5	2060	5	MYCBP2	13	77642839	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	38100189	77642839	37527039	102	41044											
SLITRK5	26050	broad.mit.edu	37	chr13	88329875	88329875	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccaaggtgaagacgccCgcgggccacgtgtatgaata	13	12	0	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr13:88329875C>T	uc001vln.2	+	2	2451	c.2232C>T	c.(2230-2232)CCC>CCT	p.P744P	SLITRK5_uc010tic.1_Silent_p.P503P	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	744	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGAAGACGCCCGCGGGCCACG	0.657													T	88329875	C	T	88329875	2	4	52	1	0	0	0	0	0	0	0	1	14746	639	23	1		1	SLITRK5	13	88329875	Silent	SNP	C	TCGA-BR-7717-01A-11D-2053-08	10687036	88329875	26840003	103	41045											
FAM155A	728215	broad.mit.edu	37	chr13	108518852	108518852	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catttctgagccctctcggaAtcgatgaacggtttctcgtt	9	11	3	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr13:108518852A>T	uc001vql.2	-	1	609	c.93T>A	c.(91-93)GAT>GAA	p.D31E		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	31						integral to membrane	binding			skin(1)	1						CCCTCTCGGAATCGATGAACG	0.527													T	108518852	A	T	108518852	3	4	52	1	0	0	0	0	1	0	0	0	5465	98	4	5	1295	5	FAM155A	13	108518852	Missense_Mutation	SNP	A	TCGA-BR-7717-01A-11D-2053-08	20188977	108518852	6651026	104	41046											
POTEG	404785	broad.mit.edu	37	chr14	19553567	19553567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcacttctggagaccacgacGattctgctatgaagacactc	9	12	2	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr14:19553567G>A	uc001vuz.1	+	1	203	c.151G>A	c.(151-153)GAT>AAT	p.D51N	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	51										ovary(1)	1						AGACCACGACGATTCTGCTAT	0.602													A	19553567	G	A	19553567	3	1	52	1	0	0	0	0	1	0	0	0	12266	1058	37	1	153	1	POTEG	14	19553567	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08		19553567	87795973	105	41047											
MYH6	4624	broad.mit.edu	37	chr14	23856775	23856775	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgactgcagctccagcttcTccacctccagctgtttgcgg	9	16	1	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr14:23856775T>C	uc001wjv.2	-	32	4680	c.4613A>G	c.(4612-4614)GAG>GGG	p.E1538G		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1538	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCCAGCTTCTCCACCTCCAG	0.592													C	23856775	T	C	23856775	3	2	52	1	0	0	0	0	1	0	0	0	10038	1551	54	3	1238	3	MYH6	14	23856775	Missense_Mutation	SNP	T	TCGA-BR-7717-01A-11D-2053-08	4303208	23856775	83492765	106	41048											
FOXG1	2290	broad.mit.edu	37	chr14	29237173	29237173	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agggctggcagaactccatcCgccacaatctgtccctcaac	8	16	2	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr14:29237173C>G	uc001wqe.2	+	1	887	c.688C>G	c.(688-690)CGC>GGC	p.R230G		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	230	Fork-head.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GAACTCCATCCGCCACAATCT	0.592													G	29237173	C	G	29237173	3	3	52	1	0	0	0	0	1	0	0	0	6007	652	23	5	690	5	FOXG1	14	29237173	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	5380398	29237173	78112367	107	41049											
EIF2B2	8892	broad.mit.edu	37	chr14	75473366	75473366	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctggcactggcagcaaaacaCcattccaccccactcatcgt	6	17	1	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr14:75473366C>G	uc001xrc.1	+	6	862	c.780C>G	c.(778-780)CAC>CAG	p.H260Q		NM_014239	NP_055054	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B,	260					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CAGCAAAACACCATTCCACCC	0.517													G	75473366	C	G	75473366	3	3	52	1	0	0	0	0	1	0	0	0	5001	506	18	5	802	5	EIF2B2	14	75473366	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	46236193	75473366	31876174	108	41050											
MARK3	4140	broad.mit.edu	37	chr14	103928798	103928798	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgtacatcgagacctcaaGgtgagtagaagtgcctcact	10	10	2	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr14:103928798G>A	uc001ymz.3	+	7	1206	c.540G>A	c.(538-540)AAG>AAA	p.K180K	MARK3_uc001ymx.3_Silent_p.K180K|MARK3_uc001ymw.3_Silent_p.K180K|MARK3_uc001yna.3_Silent_p.K180K|MARK3_uc001ymy.3_Silent_p.K180K|MARK3_uc010awp.2_Silent_p.K203K	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	180	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|stomach(1)	4		Melanoma(154;0.155)	Epithelial(46;0.241)			GAGACCTCAAGGTGAGTAGAA	0.448													A	103928798	G	A	103928798	2	1	52	1	0	0	0	0	0	0	0	1	9314	1014	35	4		4	MARK3	14	103928798	Silent	SNP	G	TCGA-BR-7717-01A-11D-2053-08	28455432	103928798	3420742	109	41051											
AHNAK2	113146	broad.mit.edu	37	chr14	105413100	105413100	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcatctgcaccttgggCaggtgccctttgaggccggc	15	13	1	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr14:105413100C>G	uc010axc.1	-	7	8808	c.8688G>C	c.(8686-8688)CTG>CTC	p.L2896L	AHNAK2_uc001ypx.2_Silent_p.L2796L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2896						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)			GCACCTTGGGCAGGTGCCCTT	0.637													G	105413100	C	G	105413100	2	3	52	1	0	0	0	0	0	0	0	1	415	697	25	5		5	AHNAK2	14	105413100	Silent	SNP	C	TCGA-BR-7717-01A-11D-2053-08	1484302	105413100	1936440	110	41052											
MKRN3	7681	broad.mit.edu	37	chr15	23811829	23811829	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaagatatggaactctcGtttgctgtgcagcgtggtat	13	6	1	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr15:23811829G>A	uc001ywh.3	+	1	1376	c.900G>A	c.(898-900)TCG>TCA	p.S300S	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.S300S	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	300						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGGAACTCTCGTTTGCTGTGC	0.532													A	23811829	G	A	23811829	2	1	52	1	0	0	0	0	0	0	0	1	9608	1132	40	1		1	MKRN3	15	23811829	Silent	SNP	G	TCGA-BR-7717-01A-11D-2053-08		23811829	78719563	111	41053											
FMN1	342184	broad.mit.edu	37	chr15	33261313	33261313	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcaatgccttctgctgAtttgatgccatgccctccat	10	12	1	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr15:33261313A>C	uc001zhf.3	-	4	1920	c.1920T>G	c.(1918-1920)AAT>AAG	p.N640K		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	863					actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CCTTCTGCTGATTTGATGCCA	0.567													C	33261313	A	C	33261313	3	2	52	1	0	0	0	0	1	0	0	0	5949	330	12	5	1726	5	FMN1	15	33261313	Missense_Mutation	SNP	A	TCGA-BR-7717-01A-11D-2053-08	9449484	33261313	69270079	112	41054											
TGM5	9333	broad.mit.edu	37	chr15	43552469	43552469	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caggctgaacacagcccgagTccccaaggccaggtctggca	12	15	1	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr15:43552469T>A	uc001zrd.1	-	3	225	c.217A>T	c.(217-219)ACT>TCT	p.T73S	TGM5_uc001zre.1_Intron	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	73					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	ACAGCCCGAGTCCCCAAGGCC	0.642													A	43552469	T	A	43552469	3	1	52	1	0	0	0	0	1	0	0	0	15830	1667	58	5	1989	5	TGM5	15	43552469	Missense_Mutation	SNP	T	TCGA-BR-7717-01A-11D-2053-08	10291156	43552469	58978923	113	41055											
DUOX1	53905	broad.mit.edu	37	chr15	45428734	45428735	+	Missense_Mutation	DNP	GC	GC	TT													cctatttccccaggataccgGccatttctggaccccagcat					rs147597074		TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr15:45428734_45428735GC>TT	uc001zus.1	+	10	1279_1280	c.933_934GC>TT	c.(931-936)CGGCCA>CGTTCA	p.P312S	DUOX1_uc001zut.1_Missense_Mutation_p.P312S|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	312	Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAGGATACCGGCCATTTCTGGA	0.589													TT	45428735	GC	TT	45428734	3	4	52	1	0	0	0	0	1	0	0	0	4800	1190	42	5	963	5	DUOX1	15	45428734	Missense_Mutation	DNP	GC	TCGA-BR-7717-01A-11D-2053-08	1876265	45428734	57102658	114	41056											
KIAA1024	23251	broad.mit.edu	37	chr15	79748518	79748518	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaggaaacttccctctTcttggtgaagatcttggagg	11	9	4	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr15:79748518T>A	uc002bew.1	+	2	104	c.29T>A	c.(28-30)TTC>TAC	p.F10Y	KIAA1024_uc010unk.1_Missense_Mutation_p.F10Y	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	10						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						ACTTCCCTCTTCTTGGTGAAG	0.458													A	79748518	T	A	79748518	3	1	52	1	0	0	0	0	1	0	0	0	8205	1783	62	5	31	5	KIAA1024	15	79748518	Missense_Mutation	SNP	T	TCGA-BR-7717-01A-11D-2053-08	34319784	79748518	22782874	115	41057											
AKAP13	11214	broad.mit.edu	37	chr15	86225415	86225415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccttccacagtaccttcCacaataccagtgctaatctg	6	15	1	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr15:86225415C>T	uc002blv.1	+	15	5298	c.5128C>T	c.(5128-5130)CAC>TAC	p.H1710Y	AKAP13_uc002blt.1_Missense_Mutation_p.H1692Y|AKAP13_uc002blu.1_Missense_Mutation_p.H1714Y|AKAP13_uc010bnf.1_Missense_Mutation_p.H332Y|AKAP13_uc002blw.1_Missense_Mutation_p.H177Y|AKAP13_uc002blx.1_5'UTR|AKAP13_uc010bne.1_Missense_Mutation_p.H363Y	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	1710					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						CAGTACCTTCCACAATACCAG	0.328													T	86225415	C	T	86225415	3	4	52	1	0	0	0	0	1	0	0	0	449	594	21	4	5252	4	AKAP13	15	86225415	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	6476897	86225415	16305977	116	41058											
WDR93	56964	broad.mit.edu	37	chr15	90281389	90281389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaaaaattgtaccattcCtcaaagggacttggataaca	6	9	2	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr15:90281389C>T	uc002boj.2	+	16	1984	c.1883C>T	c.(1882-1884)CCT>CTT	p.P628L	WDR93_uc010bnr.2_Missense_Mutation_p.P600L|WDR93_uc010upz.1_Missense_Mutation_p.P345L	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	628					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			ovary(2)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TGTACCATTCCTCAAAGGGAC	0.458													T	90281389	C	T	90281389	3	4	52	1	0	0	0	0	1	0	0	0	17337	681	24	4	1941	4	WDR93	15	90281389	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	4055974	90281389	12250003	117	41059											
OR2C1	4993	broad.mit.edu	37	chr16	3406257	3406257	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccagctctatgtcttcctttGgctgggggccaccgagtgca	12	13	2	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr16:3406257G>C	uc002cuw.1	+	1	369	c.317G>C	c.(316-318)TGG>TCG	p.W106S		NM_012368	NP_036500	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C,	106	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GTCTTCCTTTGGCTGGGGGCC	0.572													C	3406257	G	C	3406257	3	2	52	1	0	0	0	0	1	0	0	0	10992	1357	47	5	319	5	OR2C1	16	3406257	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08		3406257	86948496	118	41060											
TRAP1	10131	broad.mit.edu	37	chr16	3714317	3714317	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcatagtagggtgagtgCtctgccaggtgacggttggg	17	8	2	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr16:3714317C>T	uc002cvt.3	-	13	1616	c.1527G>A	c.(1525-1527)GAG>GAA	p.E509E	TRAP1_uc002cvs.2_Silent_p.E300E|TRAP1_uc010uxf.1_Silent_p.E456E|uc002cvu.2_RNA	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	509					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)				AGGGTGAGTGCTCTGCCAGGT	0.647													T	3714317	C	T	3714317	2	4	52	1	0	0	0	0	0	0	0	1	16452	796	28	2		2	TRAP1	16	3714317	Silent	SNP	C	TCGA-BR-7717-01A-11D-2053-08	308060	3714317	86640436	119	41061											
PRM1	5619	broad.mit.edu	37	chr16	11375074	11375074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgctccggctctggctgcGacagcatctgtacctggcca	11	15	3	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr16:11375074G>A	uc002dav.2	-	1	119	c.22C>T	c.(22-24)CGC>TGC	p.R8C	C16orf75_uc002daq.1_Intron	NM_002761	NP_002752	P04553	HSP1_HUMAN	protamine 1	8					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding				0						CTCTGGCTGCGACAGCATCTG	0.602													A	11375074	G	A	11375074	3	1	52	1	0	0	0	0	1	0	0	0	12532	1058	37	1	141	1	PRM1	16	11375074	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	7660757	11375074	78979679	120	41062											
CTCF	10664	broad.mit.edu	37	chr16	67645936	67645936	+	Frame_Shift_Del	DEL	C	C	-													gatcgtcacatgaaaagccaCactgatgagagaccacacaa							TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr16:67645935_67645935AC>A	uc002etl.3	+	3	1307	c.863_863AC>A	c.(862-864)cacfs	p.H288fs	CTCF_uc010cek.3_Intron	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	288					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		ATGAAAAGCCACACTGATGAG	0.463													-	67645936	C	-	67645936	7	5	52	1	0	1	0	1	0	0	0	0	4000	477	17	0	870	0	CTCF	16	67645936	Frame_Shift_Del	DEL	C	TCGA-BR-7717-01A-11D-2053-08	56270862	67645936	22708817	121	41063											
TMCO7	79613	broad.mit.edu	37	chr16	68893968	68893968	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aactctgtggatgtcacttgGagttttacctctcaaacctt	7	10	3	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr16:68893968G>T	uc002ewi.3	+	2	288	c.276G>T	c.(274-276)TGG>TGT	p.W92C	TMCO7_uc002ewh.2_Missense_Mutation_p.W92C	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	92						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		ATGTCACTTGGAGTTTTACCT	0.433													T	68893968	G	T	68893968	3	4	52	1	0	0	0	0	1	0	0	0	15998	1183	41	5	282	5	TMCO7	16	68893968	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	1248032	68893968	21460785	122	41064											
DDX19B	11269	broad.mit.edu	37	chr16	70351425	70351425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagcttctccaaggagtctAtgccatgggtttcaatcgtc	9	11	3	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr16:70351425A>G	uc002eyo.2	+	5	452	c.323A>G	c.(322-324)TAT>TGT	p.Y108C	DDX19B_uc010vly.1_Missense_Mutation_p.Y108C|DDX19A_uc002eys.2_Intron|DDX19B_uc010vlv.1_Intron|DDX19B_uc010vlw.1_5'UTR|DDX19B_uc002eyp.2_Intron|DDX19B_uc002eyq.2_5'UTR|DDX19B_uc002eyr.2_Intron|DDX19B_uc010vlx.1_Intron|uc002eyt.2_Intron	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform	108	Q motif.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			kidney(1)	1		Ovarian(137;0.0694)				CAAGGAGTCTATGCCATGGGT	0.413													G	70351425	A	G	70351425	3	3	52	1	0	0	0	0	1	0	0	0	4347	449	16	3	341	3	DDX19B	16	70351425	Missense_Mutation	SNP	A	TCGA-BR-7717-01A-11D-2053-08	1457457	70351425	20003328	123	41065											
CNTNAP4	85445	broad.mit.edu	37	chr16	76555129	76555129	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagcgcggatgtatctttcTtttttaagacaacagcttca	7	8	3	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr16:76555129T>C	uc002feu.1	+	18	2843	c.2458T>C	c.(2458-2460)TTT>CTT	p.F820L	CNTNAP4_uc002fev.1_Missense_Mutation_p.F684L|CNTNAP4_uc010chb.1_Missense_Mutation_p.F747L|CNTNAP4_uc002fex.1_Missense_Mutation_p.F823L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	820	Extracellular (Potential).|Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						TGTATCTTTCTTTTTTAAGAC	0.403													C	76555129	T	C	76555129	3	2	52	1	0	0	0	0	1	0	0	0	3649	1609	56	3	2533	3	CNTNAP4	16	76555129	Missense_Mutation	SNP	T	TCGA-BR-7717-01A-11D-2053-08	6203704	76555129	13799624	124	41066											
ADAMTS18	170692	broad.mit.edu	37	chr16	77327122	77327122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccttgcagaggagttcacGcttcctcacccctcgtccac	8	18	2	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr16:77327122G>A	uc002ffc.3	-	20	3459	c.3040C>T	c.(3040-3042)CGT>TGT	p.R1014C	ADAMTS18_uc010chc.1_Missense_Mutation_p.R602C	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1014	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						AGGAGTTCACGCTTCCTCACC	0.512													A	77327122	G	A	77327122	3	1	52	1	0	0	0	0	1	0	0	0	263	1087	38	1	641	1	ADAMTS18	16	77327122	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	771993	77327122	13027631	125	41067											
CCDC42	146849	broad.mit.edu	37	chr17	8647423	8647423	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttctgcaccatagtttgatGcatgatttctgtctcctttt	6	10	3	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr17:8647423G>T	uc002gln.2	-	2	390	c.163C>A	c.(163-165)CAT>AAT	p.H55N	CCDC42_uc002glo.2_Missense_Mutation_p.H55N	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42 isoform 1	55	Potential.									ovary(1)	1						ATAGTTTGATGCATGATTTCT	0.562													T	8647423	G	T	8647423	3	4	52	1	0	0	0	0	1	0	0	0	2814	1319	46	5	811	5	CCDC42	17	8647423	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08		8647423	72547787	126	41068											
MYH13	8735	broad.mit.edu	37	chr17	10233733	10233733	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcatcttcttgaactccacCcgcatcaggtaccccctgca	5	17	4	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr17:10233733C>G	uc002gmk.1	-	21	2496	c.2406G>C	c.(2404-2406)CGG>CGC	p.R802R		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	802	IQ.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TGAACTCCACCCGCATCAGGT	0.547													G	10233733	C	G	10233733	2	3	52	1	0	0	0	0	0	0	0	1	10032	610	22	5		5	MYH13	17	10233733	Silent	SNP	C	TCGA-BR-7717-01A-11D-2053-08	1586310	10233733	70961477	127	41069											
MYH13	8735	broad.mit.edu	37	chr17	10258081	10258081	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaggggaagtcgaaggggttGgtggagatcagaagcaggtc	19	4	1	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr17:10258081G>C	uc002gmk.1	-	11	1011	c.921C>G	c.(919-921)ACC>ACG	p.T307T		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	307	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						CGAAGGGGTTGGTGGAGATCA	0.468													C	10258081	G	C	10258081	2	2	52	1	0	0	0	0	0	0	0	1	10032	1335	47	5		5	MYH13	17	10258081	Silent	SNP	G	TCGA-BR-7717-01A-11D-2053-08	24348	10258081	70937129	128	41070											
MYH1	4619	broad.mit.edu	37	chr17	10404711	10404711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accggcttcttccagcctctCgctgatctcctccagctccc	6	20	3	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr17:10404711C>T	uc002gmo.2	-	27	3548	c.3454G>A	c.(3454-3456)GAG>AAG	p.E1152K	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1152	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						TCCAGCCTCTCGCTGATCTCC	0.617													T	10404711	C	T	10404711	3	4	52	1	0	0	0	0	1	0	0	0	10029	893	31	1	2421	1	MYH1	17	10404711	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	146630	10404711	70790499	129	41071											
MAP2K3	5606	broad.mit.edu	37	chr17	21202209	21202209	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacccccccggaacctggacTcccggaccttcatcaccatt	7	19	2	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr17:21202209T>C	uc002gys.2	+	3	401	c.136T>C	c.(136-138)TCC>CCC	p.S46P	MAP2K3_uc002gyt.2_Missense_Mutation_p.S17P|MAP2K3_uc002gyu.2_Missense_Mutation_p.S17P	NM_145109	NP_659731	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	46					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0				COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GAACCTGGACTCCCGGACCTT	0.617													C	21202209	T	C	21202209	3	2	52	1	0	0	0	0	1	0	0	0	9238	1551	54	3	146	3	MAP2K3	17	21202209	Missense_Mutation	SNP	T	TCGA-BR-7717-01A-11D-2053-08	10797498	21202209	59993001	130	41072											
EFTUD2	9343	broad.mit.edu	37	chr17	42929086	42929086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggagacataccttcctacGgcgggttttgatcatgaatt	11	8	1	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr17:42929086G>A	uc002ihn.2	-	27	3076	c.2815C>T	c.(2815-2817)CGT>TGT	p.R939C	EFTUD2_uc010wje.1_Missense_Mutation_p.R904C|EFTUD2_uc010wjf.1_Missense_Mutation_p.R929C	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	939						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				ACCTTCCTACGGCGGGTTTTG	0.562													A	42929086	G	A	42929086	3	1	52	1	0	0	0	0	1	0	0	0	4961	1116	39	1	111	1	EFTUD2	17	42929086	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	21726877	42929086	38266124	131	41073											
TBKBP1	9755	broad.mit.edu	37	chr17	45773677	45773677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagaacgccaccctccgaCgccgcctcaaagtctacgag	11	16	2	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr17:45773677C>T	uc002ilu.2	+	1	1048	c.199C>T	c.(199-201)CGC>TGC	p.R67C		NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	67	Potential.				innate immune response						0						CACCCTCCGACGCCGCCTCAA	0.602													T	45773677	C	T	45773677	3	4	52	1	0	0	0	0	1	0	0	0	15635	536	19	1	201	1	TBKBP1	17	45773677	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	2844591	45773677	35421533	132	41074											
TEX14	56155	broad.mit.edu	37	chr17	56651574	56651574	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctctttcagttcctttggTgactcctttgatgtctcttc	6	11	3	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr17:56651574T>C	uc010dcz.1	-	23	3613	c.3495A>G	c.(3493-3495)TCA>TCG	p.S1165S	TEX14_uc002iwr.1_Silent_p.S1159S|TEX14_uc002iws.1_Silent_p.S1119S|TEX14_uc010dda.1_Silent_p.S899S	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	1165						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTCCTTTGGTGACTCCTTTG	0.358													C	56651574	T	C	56651574	2	2	52	1	0	0	0	0	0	0	0	1	15775	1683	59	3		3	TEX14	17	56651574	Silent	SNP	T	TCGA-BR-7717-01A-11D-2053-08	10877897	56651574	24543636	133	41075											
ENGASE	64772	broad.mit.edu	37	chr17	77082221	77082221	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatgagtgatgactctccGggcagggagctgccgaggcc	18	10	1	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr17:77082221G>A	uc002jwv.2	+	14	2030	c.2022G>A	c.(2020-2022)CCG>CCA	p.P674P	ENGASE_uc002jww.2_Silent_p.P379P	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	674						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			skin(1)	1						ATGACTCTCCGGGCAGGGAGC	0.632													A	77082221	G	A	77082221	2	1	52	1	0	0	0	0	0	0	0	1	5118	1103	39	1		1	ENGASE	17	77082221	Silent	SNP	G	TCGA-BR-7717-01A-11D-2053-08	20430647	77082221	4112989	134	41076											
DSG3	1830	broad.mit.edu	37	chr18	29038467	29038467	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgaatctctggagtgggaatCgatcagccgccttttggaat	12	9	2	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr18:29038467C>A	uc002kws.2	+	4	385	c.276C>A	c.(274-276)ATC>ATA	p.I92I		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	92	Extracellular (Potential).|Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAGTGGGAATCGATCAGCCGC	0.438													A	29038467	C	A	29038467	2	1	52	1	0	0	0	0	0	0	0	1	4778	874	31	5		5	DSG3	18	29038467	Silent	SNP	C	TCGA-BR-7717-01A-11D-2053-08		29038467	49038781	135	41077											
CNDP2	55748	broad.mit.edu	37	chr18	72168606	72168606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagagtgtgtctgcgtggCcggagaagagaggcgaaatc	16	8	1	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr18:72168606C>T	uc002llm.1	+	3	265	c.103C>T	c.(103-105)CCG>TCG	p.P35S	CNDP2_uc002lln.1_Missense_Mutation_p.P35S|CNDP2_uc002llo.2_Missense_Mutation_p.P35S	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2	35						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			ovary(2)|skin(1)	3		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GTCTGCGTGGCCGGAGAAGAG	0.502													T	72168606	C	T	72168606	3	4	52	1	0	0	0	0	1	0	0	0	3594	739	26	2	109	2	CNDP2	18	72168606	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	43130139	72168606	5908642	136	41078											
MUC16	94025	broad.mit.edu	37	chr19	9058529	9058529	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacaacttcatcggagatGtctagtgacattgtggactg	12	7	2	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr19:9058529G>A	uc002mkp.2	-	3	29121	c.28917C>T	c.(28915-28917)GAC>GAT	p.D9639D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9641	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CATCGGAGATGTCTAGTGACA	0.502													A	9058529	G	A	9058529	2	1	52	1	0	0	0	0	0	0	0	1	9973	1368	48	4		4	MUC16	19	9058529	Silent	SNP	G	TCGA-BR-7717-01A-11D-2053-08		9058529	50070454	137	41079											
NWD1	284434	broad.mit.edu	37	chr19	16872810	16872810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagctggtcgaggtggtccGtgagcgctacctgtcaggat	15	10	1	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr19:16872810G>A	uc002neu.3	+	8	2416	c.1994G>A	c.(1993-1995)CGT>CAT	p.R665H	NWD1_uc002net.3_Missense_Mutation_p.R530H|NWD1_uc002nev.3_Missense_Mutation_p.R459H			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	665							ATP binding			skin(3)|ovary(2)|pancreas(2)	7						GAGGTGGTCCGTGAGCGCTAC	0.572													A	16872810	G	A	16872810	3	1	52	1	0	0	0	0	1	0	0	0	10781	1145	40	1	1603	1	NWD1	19	16872810	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	7814281	16872810	42256173	138	41080											
CPAMD8	27151	broad.mit.edu	37	chr19	17088219	17088219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactgcaaactgaaggctgtCggcgaccccttctccattct	9	14	2	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr19:17088219C>T	uc002nfb.2	-	15	1890	c.1858G>A	c.(1858-1860)GAC>AAC	p.D620N		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	573						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TGAAGGCTGTCGGCGACCCCT	0.597													T	17088219	C	T	17088219	3	4	52	1	0	0	0	0	1	0	0	0	3795	884	31	1	4052	1	CPAMD8	19	17088219	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	215409	17088219	42040764	139	41081											
FCGBP	8857	broad.mit.edu	37	chr19	40419757	40419757	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggggtccagcttgctAtggcactcccggaagggccc	14	15	0	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr19:40419757A>C	uc002omp.3	-	6	3245	c.3237T>G	c.(3235-3237)CAT>CAG	p.H1079Q		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	1079	VWFD 2.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCAGCTTGCTATGGCACTCCC	0.642													C	40419757	A	C	40419757	3	2	52	1	0	0	0	0	1	0	0	0	5778	446	16	5	13104	5	FCGBP	19	40419757	Missense_Mutation	SNP	A	TCGA-BR-7717-01A-11D-2053-08	23331538	40419757	18709226	140	41082											
PRX	57716	broad.mit.edu	37	chr19	40900837	40900837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggaggcatcctcagccccGcgtcatggccctcagtgacc	12	17	3	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr19:40900837G>A	uc002onr.2	-	7	3691	c.3422C>T	c.(3421-3423)GCG>GTG	p.A1141V	PRX_uc002onq.2_Missense_Mutation_p.A1002V|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1141	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTCAGCCCCGCGTCATGGCC	0.667													A	40900837	G	A	40900837	3	1	52	1	0	0	0	0	1	0	0	0	12642	1087	38	1	967	1	PRX	19	40900837	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	481080	40900837	18228146	141	41083											
ZNF114	163071	broad.mit.edu	37	chr19	48789445	48789445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaacattcagtgggttccGtgtgggagaaaaacagagct	14	6	1	2	rs151202823	byFrequency	TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr19:48789445G>A	uc002pil.1	+	6	1061	c.564G>A	c.(562-564)CCG>CCA	p.P188P	ZNF114_uc010elv.1_Silent_p.P188P|ZNF114_uc002pim.1_Silent_p.P188P|ZNF114_uc002pin.2_Silent_p.P154P	NM_153608	NP_705836	Q8NC26	ZN114_HUMAN	zinc finger protein 114	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		AGTGGGTTCCGTGTGGGAGAA	0.438													A	48789445	G	A	48789445	2	1	52	1	0	0	0	0	0	0	0	1	17713	1132	40	1		1	ZNF114	19	48789445	Silent	SNP	G	TCGA-BR-7717-01A-11D-2053-08	7888608	48789445	10339538	142	41084											
PEG3	5178	broad.mit.edu	37	chr19	57328018	57328018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctcacgttcacgttcacGttcatgttcacgctcattat	7	13	6	0	rs138383423		TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr19:57328018G>A	uc002qnu.2	-	7	2143	c.1792C>T	c.(1792-1794)CGT>TGT	p.R598C	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R569C|PEG3_uc002qnv.2_Missense_Mutation_p.R598C|PEG3_uc002qnw.2_Missense_Mutation_p.R474C|PEG3_uc002qnx.2_Missense_Mutation_p.R472C|PEG3_uc010etr.2_Missense_Mutation_p.R598C	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	598					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		tcacgttcacgttcatgttca	0.378													A	57328018	G	A	57328018	3	1	52	1	0	0	0	0	1	0	0	0	11720	1145	40	1	2978	1	PEG3	19	57328018	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	8538573	57328018	1800965	143	41085											
SLC4A11	83959	broad.mit.edu	37	chr20	3210393	3210393	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtgtgatagtcgtccaAgtaatgcccatagtagtact	9	7	0	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr20:3210393A>C	uc002wig.2	-	13	1615	c.1567T>G	c.(1567-1569)TTG>GTG	p.L523V	SLC4A11_uc010zqe.1_Missense_Mutation_p.L550V|SLC4A11_uc002wih.2_Intron|SLC4A11_uc010zqf.1_Missense_Mutation_p.L507V	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	523	Extracellular (Potential).|Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						TAGTCGTCCAAGTAATGCCCA	0.597													C	3210393	A	C	3210393	3	2	52	1	0	0	0	0	1	0	0	0	14652	69	3	5	1136	5	SLC4A11	20	3210393	Missense_Mutation	SNP	A	TCGA-BR-7717-01A-11D-2053-08		3210393	59815127	144	41086											
SEL1L2	80343	broad.mit.edu	37	chr20	13850192	13850192	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgtgcgtcgggccacccTttttccgcagctttctgaaa	9	13	1	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr20:13850192T>C	uc010gcf.2	-	14	1294	c.1212A>G	c.(1210-1212)AAA>AAG	p.K404K	SEL1L2_uc002woq.3_Silent_p.K265K|SEL1L2_uc010zrl.1_Silent_p.K404K|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	404	Extracellular (Potential).|Sel1-like 7.					integral to membrane	binding			ovary(2)	2						CGGGCCACCCTTTTTCCGCAG	0.393													C	13850192	T	C	13850192	2	2	52	1	0	0	0	0	0	0	0	1	14011	1606	56	3		3	SEL1L2	20	13850192	Silent	SNP	T	TCGA-BR-7717-01A-11D-2053-08	10639799	13850192	49175328	145	41087											
RRBP1	6238	broad.mit.edu	37	chr20	17601012	17601012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgcttcactgtgacccGggactacaaagcaaggggaa	13	9	1	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr20:17601012G>A	uc002wpv.1	-	19	2566	c.2212C>T	c.(2212-2214)CGG>TGG	p.R738W	RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_Missense_Mutation_p.R108W|RRBP1_uc002wpu.2_Missense_Mutation_p.R512W|RRBP1_uc002wpw.1_Missense_Mutation_p.R738W|RRBP1_uc010gcl.1_Missense_Mutation_p.R512W|RRBP1_uc010gcm.1_3'UTR	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1171	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						ACTGTGACCCGGGACTACAAA	0.537													A	17601012	G	A	17601012	3	1	52	1	0	0	0	0	1	0	0	0	13678	1115	39	1	753	1	RRBP1	20	17601012	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	3750820	17601012	45424508	146	41088											
DNMT3B	1789	broad.mit.edu	37	chr20	31385049	31385049	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatggctatcagtcttactgCactgtgtgctgcgagggccg	14	10	2	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr20:31385049C>A	uc002wyc.2	+	14	1755	c.1434C>A	c.(1432-1434)TGC>TGA	p.C478*	DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Nonsense_Mutation_p.C458*|DNMT3B_uc002wye.2_Nonsense_Mutation_p.C458*|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Nonsense_Mutation_p.C416*|DNMT3B_uc010zua.1_Nonsense_Mutation_p.C382*|DNMT3B_uc002wyf.2_Nonsense_Mutation_p.C470*|DNMT3B_uc002wyg.2_Nonsense_Mutation_p.C177*	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	478	PHD-type; atypical.|Interaction with the PRC2/EED-EZH2 complex (By similarity).|ADD.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5						AGTCTTACTGCACTGTGTGCT	0.572													A	31385049	C	A	31385049	4	1	52	1	0	0	0	0	0	1	0	0	4677	718	25	5	1524	5	DNMT3B	20	31385049	Nonsense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	13784037	31385049	31640471	147	41089											
EIF2S2	8894	broad.mit.edu	37	chr20	32677677	32677677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttctgcaggattgtgtcCggtgatcggcatgtgtgaca	13	9	1	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr20:32677677C>T	uc002xaf.2	-	9	1030	c.861G>A	c.(859-861)CCG>CCA	p.P287P	EIF2S2_uc002xag.2_Silent_p.P284P|EIF2S2_uc010ges.2_Silent_p.P227P	NM_003908	NP_003899	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2 beta	287	C4-type (Potential).					cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			large_intestine(1)	1						GGATTGTGTCCGGTGATCGGC	0.468													T	32677677	C	T	32677677	2	4	52	1	0	0	0	0	0	0	0	1	5010	639	23	1		1	EIF2S2	20	32677677	Silent	SNP	C	TCGA-BR-7717-01A-11D-2053-08	1292628	32677677	30347843	148	41090											
ITCH	83737	broad.mit.edu	37	chr20	33068998	33068998	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgtaacagaagaaaataaaGaggaatacatcaggtgagag	11	3	1	4			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr20:33068998G>A	uc010geu.1	+	21	2395	c.2203G>A	c.(2203-2205)GAG>AAG	p.E735K	ITCH_uc002xak.2_Missense_Mutation_p.E694K|ITCH_uc010zuj.1_Missense_Mutation_p.E584K	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	735	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6						AGAAAATAAAGAGGAATACAT	0.348													A	33068998	G	A	33068998	3	1	52	1	0	0	0	0	1	0	0	0	7868	943	33	4	2150	4	ITCH	20	33068998	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	391321	33068998	29956522	149	41091											
DDX27	55661	broad.mit.edu	37	chr20	47838054	47838054	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcagtgctgatttcaacccTgatttcgttttcactgagaa	8	10	2	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr20:47838054T>C	uc002xuh.2	+	2	313	c.252T>C	c.(250-252)CCT>CCC	p.P84P		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	84	Asp/Glu/Lys-rich.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			kidney(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATTTCAACCCTGATTTCGTTT	0.532													C	47838054	T	C	47838054	2	2	52	1	0	0	0	0	0	0	0	1	4354	1567	55	3		3	DDX27	20	47838054	Silent	SNP	T	TCGA-BR-7717-01A-11D-2053-08	14769056	47838054	15187466	150	41092											
MC3R	4159	broad.mit.edu	37	chr20	54823941	54823941	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctctgttcagccaacactGcctaatggctcggagcacct	8	16	2	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr20:54823941G>T	uc002xxb.2	+	1	154	c.42G>T	c.(40-42)CTG>CTT	p.L14L		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	51	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)|breast(2)	4			Colorectal(105;0.202)			AGCCAACACTGCCTAATGGCT	0.587													T	54823941	G	T	54823941	2	4	52	1	0	0	0	0	0	0	0	1	9365	1306	46	5		5	MC3R	20	54823941	Silent	SNP	G	TCGA-BR-7717-01A-11D-2053-08	6985887	54823941	8201579	151	41093											
C20orf43	51507	broad.mit.edu	37	chr20	55059238	55059238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagataaaagcggaagtttGccacacggtgagttcctgac	12	8	0	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr20:55059238G>A	uc002xxt.2	+	5	577	c.470G>A	c.(469-471)TGC>TAC	p.C157Y	C20orf43_uc010zzf.1_Missense_Mutation_p.C187Y|C20orf43_uc002xxu.2_Missense_Mutation_p.C157Y|C20orf43_uc002xxv.2_Missense_Mutation_p.C157Y	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	hypothetical protein LOC51507	157										ovary(1)	1			Colorectal(105;0.202)			GCGGAAGTTTGCCACACGGTG	0.478													A	55059238	G	A	55059238	3	1	52	1	0	0	0	0	1	0	0	0	2112	1319	46	2	488	2	C20orf43	20	55059238	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	235297	55059238	7966282	152	41094											
BMP7	655	broad.mit.edu	37	chr20	55746147	55746147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcttgggcaccgtttcCgggttgatgaagtggacctg	16	9	0	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr20:55746147C>T	uc010gip.1	-	7	1693	c.1164G>A	c.(1162-1164)CCG>CCA	p.P388P	BMP7_uc010giq.1_Silent_p.P322P	NM_001719	NP_001710	P18075	BMP7_HUMAN	bone morphogenetic protein 7 precursor	388					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			skin(1)	1	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GCACCGTTTCCGGGTTGATGA	0.517													T	55746147	C	T	55746147	2	4	52	1	0	0	0	0	0	0	0	1	1465	639	23	1		1	BMP7	20	55746147	Silent	SNP	C	TCGA-BR-7717-01A-11D-2053-08	686909	55746147	7279373	153	41095											
TPTE	7179	broad.mit.edu	37	chr21	10971337	10971337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactcccgccaggtcagtcGgatcaggactaaaggacaaa	11	11	2	1	rs149877959	byFrequency	TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr21:10971337G>A	uc002yip.1	-	5	388	c.20C>T	c.(19-21)CCG>CTG	p.P7L	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.P7L|TPTE_uc002yir.1_Missense_Mutation_p.P7L|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	7					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGGTCAGTCGGATCAGGACT	0.373													A	10971337	G	A	10971337	3	1	52	1	0	0	0	0	1	0	0	0	16427	1116	39	1	1715	1	TPTE	21	10971337	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08		10971337	37158558	154	41096											
PDE9A	5152	broad.mit.edu	37	chr21	44179168	44179168	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctggtcagggacttcagcatCaaccctgtcaccctcaggag	10	14	5	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr21:44179168C>G	uc002zbm.2	+	11	933	c.870C>G	c.(868-870)ATC>ATG	p.I290M	PDE9A_uc002zbn.2_Missense_Mutation_p.I163M|PDE9A_uc002zbo.2_Missense_Mutation_p.I237M|PDE9A_uc002zbp.2_Missense_Mutation_p.I83M|PDE9A_uc002zbq.2_Missense_Mutation_p.I188M|PDE9A_uc002zbs.2_Missense_Mutation_p.I83M|PDE9A_uc002zbr.2_Missense_Mutation_p.I83M|PDE9A_uc002zbt.2_Missense_Mutation_p.I162M|PDE9A_uc002zbu.2_Missense_Mutation_p.I156M|PDE9A_uc002zbv.2_Missense_Mutation_p.I130M|PDE9A_uc002zbw.2_Missense_Mutation_p.I73M|PDE9A_uc002zbx.2_Missense_Mutation_p.I230M|PDE9A_uc002zby.2_Missense_Mutation_p.I73M|PDE9A_uc002zbz.2_Missense_Mutation_p.I182M|PDE9A_uc002zca.2_Missense_Mutation_p.I249M|PDE9A_uc002zcb.2_Missense_Mutation_p.I264M|PDE9A_uc002zcc.2_Missense_Mutation_p.I189M|PDE9A_uc002zcd.2_Missense_Mutation_p.I204M|PDE9A_uc002zce.2_Missense_Mutation_p.I223M|PDE9A_uc002zcf.2_Missense_Mutation_p.I83M|PDE9A_uc002zcg.2_Missense_Mutation_p.I83M|PDE9A_uc002zch.2_Missense_Mutation_p.I73M|PDE9A_uc010gpf.1_Missense_Mutation_p.I83M	NM_002606	NP_002597	O76083	PDE9A_HUMAN	phosphodiesterase 9A isoform a	290	Catalytic (By similarity).				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|skin(1)	2						ACTTCAGCATCAACCCTGTCA	0.587													G	44179168	C	G	44179168	3	3	52	1	0	0	0	0	1	0	0	0	11655	816	29	5	992	5	PDE9A	21	44179168	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	33207831	44179168	3950727	155	41097											
BCR	613	broad.mit.edu	37	chr22	23632583	23632583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcgtccactcagccactgGatttaagcagagttcaagta	8	11	2	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr22:23632583G>A	uc002zww.2	+	14	3361	c.2765G>A	c.(2764-2766)GGA>GAA	p.G922E	BCR_uc002zwx.2_Missense_Mutation_p.G922E|BCR_uc011aiy.1_Missense_Mutation_p.G511E|BCR_uc002zwy.1_3'UTR	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	922	C2.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						TCAGCCACTGGATTTAAGCAG	0.562			T	ABL1| FGFR1|JAK2 	CML|ALL|AML						OREG0026390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	23632583	G	A	23632583	3	1	52	1	0	0	0	0	1	0	0	0	1388	1174	41	4	2819	4	BCR	22	23632583	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08		23632583	27671983	156	41098											
ISX	91464	broad.mit.edu	37	chr22	35481614	35481614	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttcccatccatcaaacTtgcatccctgtgctatgcat	6	14	2	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr22:35481614T>G	uc003anj.2	+	4	1617	c.666T>G	c.(664-666)ACT>ACG	p.T222T	ISX_uc011amg.1_Silent_p.T210T	NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	222						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)	5						TCCATCAAACTTGCATCCCTG	0.557													G	35481614	T	G	35481614	2	3	52	1	0	0	0	0	0	0	0	1	7865	1596	56	5		5	ISX	22	35481614	Silent	SNP	T	TCGA-BR-7717-01A-11D-2053-08	11849031	35481614	15822952	157	41099											
SEPT3	55964	broad.mit.edu	37	chr22	42383244	42383244	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtcaaaatgaagctgacCgtcatcgacaccccaggctt	10	12	2	2	rs77263193	byFrequency	TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr22:42383244C>T	uc003bbr.3	+	4	504	c.366C>T	c.(364-366)ACC>ACT	p.T122T	WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Silent_p.T122T|SEPT3_uc010gyr.2_Silent_p.T58T|SEPT3_uc011apj.1_Silent_p.T58T|SEPT3_uc010gys.2_Intron	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN	septin 3 isoform A	122					cell cycle|cytokinesis	cell junction|septin complex	GTP binding				0						TGAAGCTGACCGTCATCGACA	0.502													T	42383244	C	T	42383244	2	4	52	1	0	0	0	0	0	0	0	1	14065	639	23	1		1	SEPT3	22	42383244	Silent	SNP	C	TCGA-BR-7717-01A-11D-2053-08	6901630	42383244	8921322	158	41100											
SCUBE1	80274	broad.mit.edu	37	chr22	43610151	43610151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcccgtcgctgctgggGcacggtgtgcaactgagctg	15	13	0	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chr22:43610151G>A	uc003bdt.1	-	16	2086	c.1998C>T	c.(1996-1998)TGC>TGT	p.C666C		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	666					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				CGCTGCTGGGGCACGGTGTGC	0.652													A	43610151	G	A	43610151	2	1	52	1	0	0	0	0	0	0	0	1	13944	1195	42	2		2	SCUBE1	22	43610151	Silent	SNP	G	TCGA-BR-7717-01A-11D-2053-08	1226907	43610151	7694415	159	41101											
MSL3	10943	broad.mit.edu	37	chrX	11786716	11786716	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acctgtgcatagcagatcatCttcacctattcctctgactc	5	14	4	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chrX:11786716C>T	uc004cuw.2	+	10	1301	c.1196C>T	c.(1195-1197)TCT>TTT	p.S399F	MSL3_uc004cux.2_Missense_Mutation_p.S340F|MSL3_uc011mig.1_Missense_Mutation_p.S250F|MSL3_uc011mih.1_Missense_Mutation_p.S387F|MSL3_uc004cuy.2_Missense_Mutation_p.S233F	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3-like 1 isoform a	399					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AGCAGATCATCTTCACCTATT	0.398													T	11786716	C	T	11786716	3	4	52	1	0	0	0	0	1	0	0	0	9879	913	32	4	1314	4	MSL3	23	11786716	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08		11786716	143483844	160	41102											
KDM6A	7403	broad.mit.edu	37	chrX	44922785	44922785	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gccacagcttgctctgaccaGagtgcctagcgtctctcagc	10	15	3	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chrX:44922785G>C	uc004dge.3	+	16	2021	c.1646G>C	c.(1645-1647)AGA>ACA	p.R549T	KDM6A_uc010nhk.2_Missense_Mutation_p.R515T|KDM6A_uc011mkz.1_Missense_Mutation_p.R601T|KDM6A_uc011mla.1_Missense_Mutation_p.R504T|KDM6A_uc011mlb.1_Missense_Mutation_p.R556T|KDM6A_uc011mlc.1_Missense_Mutation_p.R253T|KDM6A_uc011mld.1_Missense_Mutation_p.R188T	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	549					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						GCTCTGACCAGAGTGCCTAGC	0.567			D|N|F|S		renal|oesophageal SCC|MM								C	44922785	G	C	44922785	3	2	52	1	0	0	0	0	1	0	0	0	8137	942	33	5	1708	5	KDM6A	23	44922785	Missense_Mutation	SNP	G	TCGA-BR-7717-01A-11D-2053-08	33136069	44922785	110347775	161	41103											
STARD8	9754	broad.mit.edu	37	chrX	67941951	67941951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctgagtgacaacatggCagccacccagggcctgtcgc	13	14	0	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chrX:67941951C>T	uc004dxa.2	+	10	2654	c.2282C>T	c.(2281-2283)GCA>GTA	p.A761V	STARD8_uc004dxb.2_Missense_Mutation_p.A841V|STARD8_uc004dxc.3_Missense_Mutation_p.A761V	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	761	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6						GACAACATGGCAGCCACCCAG	0.572													T	67941951	C	T	67941951	3	4	52	1	0	0	0	0	1	0	0	0	15262	710	25	2	2564	2	STARD8	23	67941951	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	23019166	67941951	87328609	162	41104											
PJA1	64219	broad.mit.edu	37	chrX	68382337	68382338	+	Nonsense_Mutation	DNP	TT	TT	AA													cacaggttcctctgcactctTtgaggtgttttccccaccac							TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chrX:68382337_68382338TT>AA	uc004dxh.2	-	2	1030_1031	c.744_745AA>TT	c.(742-747)TCAAAG>TCTTAG	p.K249*	PJA1_uc011mpi.1_5'UTR|PJA1_uc004dxg.2_Intron|PJA1_uc004dxi.2_Nonsense_Mutation_p.K194*	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	249							zinc ion binding				0						TCTGCACTCTTTGAGGTGTTTT	0.48													AA	68382338	TT	AA	68382337	4	1	52	1	0	0	0	0	0	1	0	0	11961	1850	64	5	1190	5	PJA1	23	68382337	Nonsense_Mutation	DNP	TT	TCGA-BR-7717-01A-11D-2053-08	440386	68382337	86888223	163	41105											
CPXCR1	53336	broad.mit.edu	37	chrX	88009038	88009038	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcactactaccgtccccTcactgagagaatgacatcag	9	13	2	3			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chrX:88009038T>A	uc004efd.3	+	3	882	c.623T>A	c.(622-624)CTC>CAC	p.L208H	CPXCR1_uc004efc.3_Missense_Mutation_p.L208H	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	208						intracellular	zinc ion binding			ovary(3)	3						TACCGTCCCCTCACTGAGAGA	0.428													A	88009038	T	A	88009038	3	1	52	1	0	0	0	0	1	0	0	0	3836	1551	54	5	625	5	CPXCR1	23	88009038	Missense_Mutation	SNP	T	TCGA-BR-7717-01A-11D-2053-08	19626701	88009038	67261522	164	41106											
AMOT	154796	broad.mit.edu	37	chrX	112022884	112022884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaagggacatattcagcaCggtagtctccacccaggaga	12	10	2	1			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chrX:112022884C>T	uc004epr.2	-	10	2498	c.2498G>A	c.(2497-2499)CGT>CAT	p.R833H	AMOT_uc004eps.2_Missense_Mutation_p.R424H|AMOT_uc011mtc.1_Missense_Mutation_p.R73H	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	833					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						ATATTCAGCACGGTAGTCTCC	0.507													T	112022884	C	T	112022884	3	4	52	1	0	0	0	0	1	0	0	0	582	536	19	1	764	1	AMOT	23	112022884	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	24013846	112022884	43247676	165	41107											
GPR101	83550	broad.mit.edu	37	chrX	136113611	136113611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctgcagcaggtcggtgaCgaggaggttaaagataaaac	13	6	1	2			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chrX:136113611C>T	uc011mwh.1	-	1	223	c.223G>A	c.(223-225)GTC>ATC	p.V75I		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	75	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					AGGTCGGTGACGAGGAGGTTA	0.617													T	136113611	C	T	136113611	3	4	52	1	0	0	0	0	1	0	0	0	6622	536	19	1	1306	1	GPR101	23	136113611	Missense_Mutation	SNP	C	TCGA-BR-7717-01A-11D-2053-08	24090727	136113611	19156949	166	41108											
BGN	633	broad.mit.edu	37	chrX	152773819	152773819	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagcctcttcaacaacccCgtgccctactgggaggtgca	9	15	3	0			TCGA-BR-7717-01A-11D-2053-08	TCGA-BR-7717-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67d6a830-41d5-46d2-9503-58ec158c29a7	b65a86ec-96ea-4d0e-890e-43d5645adf5d	g.chrX:152773819C>T	uc004fhr.1	+	8	1195	c.1023C>T	c.(1021-1023)CCC>CCT	p.P341P	BGN_uc004fhq.1_RNA	NM_001711	NP_001702	P21810	PGS1_HUMAN	biglycan preproprotein	341	LRR 11.					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCAACAACCCCGTGCCCTACT	0.582													T	152773819	C	T	152773819	2	4	52	1	0	0	0	0	0	0	0	1	1418	639	23	1		1	BGN	23	152773819	Silent	SNP	C	TCGA-BR-7717-01A-11D-2053-08	16660208	152773819	2496741	167	41109											
ARID1A	8289	broad.mit.edu	37	chr1	27100199	27100200	+	Frame_Shift_Ins	INS	-	-	G													ccgcagcagcagcagcagcaINSgcagcaacggtgagtaaagc							TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr1:27100199_27100200insG	uc001bmv.1	+	16	4368_4369	c.3995_3996insG	c.(3994-3996)CAGfs	p.Q1332fs	ARID1A_uc001bmt.1_Frame_Shift_Ins_p.Q1331fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.Q1332fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.Q949fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.Q178fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1332	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q1332*(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		cagcagcagcagcagcaACGGT	0.49			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								G	27100200	-	G	27100199	7	5	53	1	0	1	1	0	0	0	0	0	913	188	7	0	4057	0	ARID1A	1	27100199	Frame_Shift_Ins	INS	-	TCGA-BR-7722-01A-31D-2201-08		27100199	222150422	1	41110	138	2									
ARID1A	8289	broad.mit.edu	37	chr1	27100200	27100201	+	Frame_Shift_Ins	INS	-	-	G													cgcagcagcagcagcagcagINScagcaacggtgagtaaagcc							TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr1:27100199_27100200A>AG	uc001bmv.1	+	15	4368_4369	c.3995_3996A>AG	c.(3994-3996)cagfs	p.Q1332fs	ARID1A_uc001bmt.1_Frame_Shift_Ins_p.Q1331fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.Q1332fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.Q949fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.Q178fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1332	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Q1332*(1)|p.Q1331*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		cagcagcagcagcagcaACGGT	0.569			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								G	27100201	-	G	27100200	7	5	53	1	0	1	1	0	0	0	0	0	913	962	34	0	4058	0	ARID1A	1	27100200	Frame_Shift_Ins	INS	-	TCGA-BR-7722-01A-31D-2201-08	1	27100200	222150421	2	41111	138	2									
YTHDF2	51441	broad.mit.edu	37	chr1	29070218	29070218	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgaaatctgctgtggactAcaacacatgtgcaggtgtgt	11	7	1	1			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr1:29070218A>G	uc001brc.2	+	4	1933	c.1436A>G	c.(1435-1437)TAC>TGC	p.Y479C	YTHDF2_uc001brd.2_Missense_Mutation_p.Y476C|YTHDF2_uc010ofx.1_Missense_Mutation_p.Y429C|YTHDF2_uc001bre.2_Missense_Mutation_p.Y429C	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	479	YTH.				humoral immune response					ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGTGGACTACAACACATGT	0.493													G	29070218	A	G	29070218	3	3	53	1	0	0	0	0	1	0	0	0	17496	391	14	3	1450	3	YTHDF2	1	29070218	Missense_Mutation	SNP	A	TCGA-BR-7722-01A-31D-2201-08	1970018	29070218	220180403	3	41112											
STK40	83931	broad.mit.edu	37	chr1	36809854	36809854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtcactgggcttgccacGgtacggccggcctacgggca	14	14	1	0			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr1:36809854G>A	uc001cak.1	-	9	1158	c.751C>T	c.(751-753)CGT>TGT	p.R251C	STK40_uc001cal.1_Missense_Mutation_p.R256C|STK40_uc001cam.1_Missense_Mutation_p.R251C|STK40_uc009vva.1_Missense_Mutation_p.R251C|STK40_uc001can.1_Missense_Mutation_p.R251C	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	251	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1		Myeloproliferative disorder(586;0.0393)				GGCTTGCCACGGTACGGCCGG	0.637													A	36809854	G	A	36809854	3	1	53	1	0	0	0	0	1	0	0	0	15306	1116	39	1	572	1	STK40	1	36809854	Missense_Mutation	SNP	G	TCGA-BR-7722-01A-31D-2201-08	7739636	36809854	212440767	4	41113											
C1orf177	163747	broad.mit.edu	37	chr1	55277794	55277794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcacgatccgtcggcaccCgcggcccctatgacactttc	10	17	0	1			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr1:55277794C>T	uc001cyb.3	+	6	748	c.694C>T	c.(694-696)CGC>TGC	p.R232C	C1orf177_uc001cya.3_Missense_Mutation_p.R232C	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	hypothetical protein LOC163747 isoform 2	232											0						CGTCGGCACCCGCGGCCCCTA	0.577													T	55277794	C	T	55277794	3	4	53	1	0	0	0	0	1	0	0	0	2017	652	23	1	716	1	C1orf177	1	55277794	Missense_Mutation	SNP	C	TCGA-BR-7722-01A-31D-2201-08	18467940	55277794	193972827	5	41114											
OR6Y1	391112	broad.mit.edu	37	chr1	158517584	158517584	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcacaaaaaagtaaagttgAgtcatgcagccattgaagga	10	6	2	2			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr1:158517584A>T	uc010pil.1	-	1	312	c.312T>A	c.(310-312)ACT>ACA	p.T104T		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	104	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					AGTAAAGTTGAGTCATGCAGC	0.448													T	158517584	A	T	158517584	2	4	53	1	0	0	0	0	0	0	0	1	11213	291	11	5		5	OR6Y1	1	158517584	Silent	SNP	A	TCGA-BR-7722-01A-31D-2201-08	103239790	158517584	90733037	6	41115											
CACNA1E	777	broad.mit.edu	37	chr1	181724450	181724450	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacaagctcttcatgttcatCtttgctgtcatcgcagttca	6	11	6	0			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr1:181724450C>T	uc001gow.2	+	28	4071	c.3906C>T	c.(3904-3906)ATC>ATT	p.I1302I	CACNA1E_uc009wxs.2_Silent_p.I1190I|CACNA1E_uc001gox.1_Silent_p.I528I|CACNA1E_uc009wxt.2_Silent_p.I528I	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1302	III.|Helical; Name=S5 of repeat III.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TCATGTTCATCTTTGCTGTCA	0.483													T	181724450	C	T	181724450	2	4	53	1	0	0	0	0	0	0	0	1	2542	903	32	4		4	CACNA1E	1	181724450	Silent	SNP	C	TCGA-BR-7722-01A-31D-2201-08	23206866	181724450	67526171	7	41116											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220357408	220357408	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgtgtctaaatgaaaAtcaagggaatttaattgact	9	3	2	2			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr1:220357408A>C	uc010puk.1	-	19	2132	c.1968T>G	c.(1966-1968)GAT>GAG	p.D656E	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.D236E	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	656					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)		CTAAATGAAAATCAAGGGAAT	0.299													C	220357408	A	C	220357408	3	2	53	1	0	0	0	0	1	0	0	0	12936	98	4	5	2281	5	RAB3GAP2	1	220357408	Missense_Mutation	SNP	A	TCGA-BR-7722-01A-31D-2201-08	38632958	220357408	28893213	8	41117											
LRP2	4036	broad.mit.edu	37	chr2	170033000	170033000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccactcagctgaagggtgcGgaagtcatctggacactcgc	13	12	3	1			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr2:170033000G>A	uc002ues.2	-	54	10705	c.10492C>T	c.(10492-10494)CGC>TGC	p.R3498C		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3498	Extracellular (Potential).|EGF-like 13.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGAAGGGTGCGGAAGTCATCT	0.532													A	170033000	G	A	170033000	3	1	53	1	0	0	0	0	1	0	0	0	8956	1116	39	1	3579	1	LRP2	2	170033000	Missense_Mutation	SNP	G	TCGA-BR-7722-01A-31D-2201-08		170033000	73166373	9	41118											
ITGAV	3685	broad.mit.edu	37	chr2	187540409	187540409	+	Frame_Shift_Del	DEL	G	G	-													gaaagagtgcaatcttgtacGtaaagtcattactgtggact					rs146319338	byFrequency	TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr2:187540409delG	uc002upq.2	+	27	3061	c.2785delG	c.(2785-2787)GTAfs	p.V929fs	ITGAV_uc010frs.2_Frame_Shift_Del_p.V893fs|ITGAV_uc010zfv.1_Frame_Shift_Del_p.V883fs	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	929	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		AATCTTGTACGTAAAGTCATT	0.398													-	187540409	G	-	187540409	7	5	53	1	0	1	0	1	0	0	0	0	7888	1145	40	0	2942	0	ITGAV	2	187540409	Frame_Shift_Del	DEL	G	TCGA-BR-7722-01A-31D-2201-08	17507409	187540409	55658964	10	41119											
ITPR1	3708	broad.mit.edu	37	chr3	4699844	4699844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcctctcgaagtaggttgCggaatgcccaagaaaagatg	12	9	1	2			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr3:4699844C>T	uc003bqa.2	+	13	1381	c.1033C>T	c.(1033-1035)CGG>TGG	p.R345W	ITPR1_uc010hca.1_Missense_Mutation_p.R330W|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.R330W	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	345	Cytoplasmic (Potential).|MIR 4.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AAGTAGGTTGCGGAATGCCCA	0.498													T	4699844	C	T	4699844	3	4	53	1	0	0	0	0	1	0	0	0	7920	759	27	1	1075	1	ITPR1	3	4699844	Missense_Mutation	SNP	C	TCGA-BR-7722-01A-31D-2201-08		4699844	193322586	11	41120											
RHOA	387	broad.mit.edu	37	chr3	49412907	49412907	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatctgccacatagttctcaAacactgtgggcacatacacc	6	13	2	0			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr3:49412907A>C	uc003cwu.2	-	2	392	c.116T>G	c.(115-117)TTT>TGT	p.F39C	RHOA_uc010hku.2_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	39	Effector region (Potential).				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	ATAGTTCTCAAACACTGTGGG	0.433													C	49412907	A	C	49412907	3	2	53	1	0	0	0	0	1	0	0	0	13331	14	1	5	481	5	RHOA	3	49412907	Missense_Mutation	SNP	A	TCGA-BR-7722-01A-31D-2201-08	44713063	49412907	148609523	12	41121											
P2RY14	9934	broad.mit.edu	37	chr3	150931958	150931958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactcttagagctgggcacGtaaaagaatatccatcctga	8	9	1	3			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr3:150931958G>A	uc003eyr.1	-	3	625	c.147C>T	c.(145-147)TAC>TAT	p.Y49Y	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Silent_p.Y49Y	NM_001081455	NP_001074924	Q15391	P2Y14_HUMAN	P2Y14 receptor	49	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			large_intestine(2)|ovary(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCTGGGCACGTAAAAGAATA	0.428													A	150931958	G	A	150931958	2	1	53	1	0	0	0	0	0	0	0	1	11351	1140	40	1		1	P2RY14	3	150931958	Silent	SNP	G	TCGA-BR-7722-01A-31D-2201-08	101519051	150931958	47090472	13	41122											
ANTXR2	118429	broad.mit.edu	37	chr4	80975471	80975471	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgaaatccacctttgacaggGaaaacttgctccttggaatc	8	10	0	2			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr4:80975471G>C	uc003hlz.3	-	7	1354	c.591C>G	c.(589-591)TTC>TTG	p.F197L	ANTXR2_uc003hly.3_Missense_Mutation_p.F197L|ANTXR2_uc003hlx.1_RNA|ANTXR2_uc010ijn.2_Missense_Mutation_p.F197L	NM_001145794	NP_001139266	P58335	ANTR2_HUMAN	anthrax toxin receptor 2 isoform 2	197	Extracellular (Potential).|VWFA.					endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			ovary(1)	1						CTTTGACAGGGAAAACTTGCT	0.368									Juvenile_Hyaline_Fibromatosis				C	80975471	G	C	80975471	3	2	53	1	0	0	0	0	1	0	0	0	712	1165	41	5	961	5	ANTXR2	4	80975471	Missense_Mutation	SNP	G	TCGA-BR-7722-01A-31D-2201-08		80975471	110178805	14	41123											
KIAA1109	84162	broad.mit.edu	37	chr4	123265668	123265668	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattttttgaaagtcagtctGtaagcaagtctgcaagcaaa	8	7	3	1			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr4:123265668G>T	uc003ieh.2	+	72	12730	c.12685G>T	c.(12685-12687)GTA>TTA	p.V4229L	KIAA1109_uc003iem.2_Missense_Mutation_p.V585L|KIAA1109_uc003ien.2_Missense_Mutation_p.V163L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4229					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AAGTCAGTCTGTAAGCAAGTC	0.323													T	123265668	G	T	123265668	3	4	53	1	0	0	0	0	1	0	0	0	8208	1377	48	5	12971	5	KIAA1109	4	123265668	Missense_Mutation	SNP	G	TCGA-BR-7722-01A-31D-2201-08	42290197	123265668	67888608	15	41124											
GPR98	84059	broad.mit.edu	37	chr5	90052364	90052364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacaggacagccaagtgtgCggaggcccggaatggaaata	14	9	0	0			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr5:90052364C>T	uc003kju.2	+	56	11770	c.11674C>T	c.(11674-11676)CGG>TGG	p.R3892W	GPR98_uc003kjt.2_Missense_Mutation_p.R1598W|GPR98_uc003kjv.2_Missense_Mutation_p.R1492W	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3892	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCCAAGTGTGCGGAGGCCCGG	0.438													T	90052364	C	T	90052364	3	4	53	1	0	0	0	0	1	0	0	0	6721	759	27	1	11896	1	GPR98	5	90052364	Missense_Mutation	SNP	C	TCGA-BR-7722-01A-31D-2201-08		90052364	90862896	16	41125											
FEM1C	56929	broad.mit.edu	37	chr5	114878880	114878880	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgacagatgctccatgaTttaacaaggactggaccacc	9	10	0	3			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr5:114878880T>C	uc003krb.1	-	2	873	c.311A>G	c.(310-312)AAT>AGT	p.N104S		NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN	feminization 1 homolog a	104	ANK 3.					cytoplasm				breast(2)|ovary(1)	3		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TGCTCCATGATTTAACAAGGA	0.493													C	114878880	T	C	114878880	3	2	53	1	0	0	0	0	1	0	0	0	5811	1493	52	3	1550	3	FEM1C	5	114878880	Missense_Mutation	SNP	T	TCGA-BR-7722-01A-31D-2201-08	24826516	114878880	66036380	17	41126											
KIF3A	11127	broad.mit.edu	37	chr5	132056301	132056301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caattacacactatacttacGatttttgtggcctagcgtca	6	10	1	0			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr5:132056301G>A	uc003kxo.2	-	5	770	c.616C>T	c.(616-618)CGT>TGT	p.R206C	KIF3A_uc003kxn.2_Missense_Mutation_p.R165C|KIF3A_uc011cxf.1_Missense_Mutation_p.R206C|KIF3A_uc003kxp.2_Missense_Mutation_p.R206C	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	206	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			pancreas(1)	1		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTATACTTACGATTTTTGTGG	0.363													A	132056301	G	A	132056301	3	1	53	1	0	0	0	0	1	0	0	0	8300	1072	37	1	1535	1	KIF3A	5	132056301	Missense_Mutation	SNP	G	TCGA-BR-7722-01A-31D-2201-08	17177421	132056301	48858959	18	41127											
GNB2L1	10399	broad.mit.edu	37	chr5	180665164	180665164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttagggctgaagcacagggCgttgatgatgtccccaccat	13	10	0	3			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr5:180665164C>T	uc003mni.1	-	6	818	c.712G>A	c.(712-714)GCC>ACC	p.A238T	GNB2L1_uc003mnh.1_Missense_Mutation_p.A197T|GNB2L1_uc003mnk.1_Missense_Mutation_p.A160T|GNB2L1_uc003mnj.1_Missense_Mutation_p.A192T|GNB2L1_uc003mnl.1_Missense_Mutation_p.A22T	NM_006098	NP_006089	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein),	238	WD 6.				apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding				0	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		AAGCACAGGGCGTTGATGATG	0.542													T	180665164	C	T	180665164	3	4	53	1	0	0	0	0	1	0	0	0	6518	768	27	1	253	1	GNB2L1	5	180665164	Missense_Mutation	SNP	C	TCGA-BR-7722-01A-31D-2201-08	48608863	180665164	250096	19	41128											
MDC1	9656	broad.mit.edu	37	chr6	30680092	30680092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgtcccctccacagacaCctgatgcttctttatatgta	5	12	1	2			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr6:30680092C>T	uc003nrg.3	-	5	2067	c.1627G>A	c.(1627-1629)GTG>ATG	p.V543M	MDC1_uc003nrf.3_Missense_Mutation_p.V197M|MDC1_uc011dmp.1_Missense_Mutation_p.V415M|MDC1_uc003nrh.1_Missense_Mutation_p.V415M|MDC1_uc003nri.2_Missense_Mutation_p.V543M	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	543	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						TCCACAGACACCTGATGCTTC	0.522								Other_conserved_DNA_damage_response_genes					T	30680092	C	T	30680092	3	4	53	1	0	0	0	0	1	0	0	0	9403	507	18	4	4686	4	MDC1	6	30680092	Missense_Mutation	SNP	C	TCGA-BR-7722-01A-31D-2201-08		30680092	140434975	20	41129											
MAGI2	9863	broad.mit.edu	37	chr7	79082564	79082564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaaagcccagctggccctCcgggttcctgccaatgacac	9	16	1	1			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr7:79082564C>T	uc003ugx.2	-	1	327	c.73G>A	c.(73-75)GAG>AAG	p.E25K	MAGI2_uc003ugy.2_Missense_Mutation_p.E25K|uc010lea.1_5'Flank	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	25	PDZ 1.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGCTGGCCCTCCGGGTTCCTG	0.587													T	79082564	C	T	79082564	3	4	53	1	0	0	0	0	1	0	0	0	9191	864	30	4	4382	4	MAGI2	7	79082564	Missense_Mutation	SNP	C	TCGA-BR-7722-01A-31D-2201-08		79082564	80056099	21	41130											
PON1	5444	broad.mit.edu	37	chr7	94928393	94928393	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cactttaggttcttctgttaGaatgttctggattcgaagca	9	7	3	1			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr7:94928393G>A	uc003uns.2	-	9	1028	c.931C>T	c.(931-933)CTA>TTA	p.L311L	PON1_uc011kih.1_Silent_p.L311L	NM_000446	NP_000437	P27169	PON1_HUMAN	paraoxonase 1 precursor	311					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			pancreas(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TCTTCTGTTAGAATGTTCTGG	0.398													A	94928393	G	A	94928393	2	1	53	1	0	0	0	0	0	0	0	1	12248	933	33	4		4	PON1	7	94928393	Silent	SNP	G	TCGA-BR-7722-01A-31D-2201-08	15845829	94928393	64210270	22	41131											
ADAM28	10863	broad.mit.edu	37	chr8	24207414	24207414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgctgttcccaatggcGgtcatttttgtggtggttgc	16	7	1	0			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr8:24207414G>A	uc003xdy.2	+	19	2111	c.2028G>A	c.(2026-2028)GCG>GCA	p.A676A	ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Silent_p.A363A	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28 isoform 1	676	Helical; (Potential).				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|lung(1)|central_nervous_system(1)	5		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TCCCAATGGCGGTCATTTTTG	0.502													A	24207414	G	A	24207414	2	1	53	1	0	0	0	0	0	0	0	1	246	1103	39	1		1	ADAM28	8	24207414	Silent	SNP	G	TCGA-BR-7722-01A-31D-2201-08		24207414	122156608	23	41132											
CSMD3	114788	broad.mit.edu	37	chr8	113243795	113243795	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtctttgtaggccaaattGtccataatctttgccttgaa	7	9	2	1			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr8:113243795G>T	uc003ynu.2	-	69	10966	c.10807C>A	c.(10807-10809)CAA>AAA	p.Q3603K	CSMD3_uc003yns.2_Missense_Mutation_p.Q2805K|CSMD3_uc003ynt.2_Missense_Mutation_p.Q3563K|CSMD3_uc011lhx.1_Missense_Mutation_p.Q3434K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3603	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AGGCCAAATTGTCCATAATCT	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113243795	G	T	113243795	3	4	53	1	0	0	0	0	1	0	0	0	3946	1386	48	5	328	5	CSMD3	8	113243795	Missense_Mutation	SNP	G	TCGA-BR-7722-01A-31D-2201-08	89036381	113243795	33120227	24	41133											
KIAA1797	54914	broad.mit.edu	37	chr9	20907176	20907176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagctttcagagtggcacCgtgcaatttttcttccacag	8	12	2	1			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr9:20907176C>T	uc003zog.1	+	24	3016	c.2653C>T	c.(2653-2655)CGT>TGT	p.R885C	KIAA1797_uc003zoh.1_Missense_Mutation_p.R321C	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	885						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		aGAGTGGCACCGTGCAATTTT	0.269													T	20907176	C	T	20907176	3	4	53	1	0	0	0	0	1	0	0	0	8258	652	23	1	2735	1	KIAA1797	9	20907176	Missense_Mutation	SNP	C	TCGA-BR-7722-01A-31D-2201-08		20907176	120306255	25	41134											
IFNA10	3446	broad.mit.edu	37	chr9	21206898	21206898	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cttctggaactggttgccatCaaactcctcctgggggattc	10	12	2	0			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr9:21206898C>G	uc003zoq.1	-	1	245	c.199G>C	c.(199-201)GAT>CAT	p.D67H	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	interferon, alpha 10 precursor	67					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		TGGTTGCCATCAAACTCCTCC	0.502													G	21206898	C	G	21206898	3	3	53	1	0	0	0	0	1	0	0	0	7532	826	29	5	374	5	IFNA10	9	21206898	Missense_Mutation	SNP	C	TCGA-BR-7722-01A-31D-2201-08	299722	21206898	120006533	26	41135											
GOLM1	51280	broad.mit.edu	37	chr9	88667485	88667485	+	Missense_Mutation	SNP	T	T	A													gatgagcctctcacctgtggTgatgttattcaccaaaaccg							TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr9:88667485T>A	uc004aol.2	-	4	529	c.331A>T	c.(331-333)ACC>TCC	p.T111S	GOLM1_uc010mqd.1_Intron|GOLM1_uc004aom.2_Missense_Mutation_p.T111S	NM_016548	NP_057632	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	111	Potential.|Lumenal (Potential).					Golgi apparatus|integral to plasma membrane					0						TCACCTGTGGTGATGTTATTC	0.512													A	88667485	T	A	88667485	3	1	53	1	0	0	0	0	1	0	0	0	6567	1696	59	5	902	5	GOLM1	9	88667485	Missense_Mutation	SNP	T	TCGA-BR-7722-01A-31D-2201-08	67460587	88667485	52545946	27	41136	139	2									
GOLM1	51280	broad.mit.edu	37	chr9	88667488	88667488	+	Missense_Mutation	SNP	T	T	G													gagcctctcacctgtggtgaTgttattcaccaaaaccgcct							TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr9:88667488T>G	uc004aol.2	-	4	526	c.328A>C	c.(328-330)ATC>CTC	p.I110L	GOLM1_uc010mqd.1_Intron|GOLM1_uc004aom.2_Missense_Mutation_p.I110L	NM_016548	NP_057632	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	110	Potential.|Lumenal (Potential).					Golgi apparatus|integral to plasma membrane					0						CCTGTGGTGATGTTATTCACC	0.522													G	88667488	T	G	88667488	3	3	53	1	0	0	0	0	1	0	0	0	6567	1464	51	5	905	5	GOLM1	9	88667488	Missense_Mutation	SNP	T	TCGA-BR-7722-01A-31D-2201-08	3	88667488	52545943	28	41137	139	2									
OR1L3	26735	broad.mit.edu	37	chr9	125437839	125437839	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagatgctgtgtgttgcTactagcattccccatcactt	8	13	1	1			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr9:125437839T>C	uc011lzb.1	+	1	431	c.431T>C	c.(430-432)CTA>CCA	p.L144P		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L,	144	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TGTGTGTTGCTACTAGCATTC	0.448													C	125437839	T	C	125437839	3	2	53	1	0	0	0	0	1	0	0	0	10964	1522	53	3	433	3	OR1L3	9	125437839	Missense_Mutation	SNP	T	TCGA-BR-7722-01A-31D-2201-08	36770351	125437839	15775592	29	41138											
MRPL41	64975	broad.mit.edu	37	chr9	140446797	140446797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagacgcccctgacggcCgcgcagctcttcagcgaagc	14	15	2	2			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr9:140446797C>T	uc004cnh.3	+	2	394	c.264C>T	c.(262-264)GCC>GCT	p.A88A	PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank	NM_032477	NP_115866	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	88					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome				0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		CCCTGACGGCCGCGCAGCTCT	0.622													T	140446797	C	T	140446797	2	4	53	1	0	0	0	0	0	0	0	1	9805	639	23	1		1	MRPL41	9	140446797	Silent	SNP	C	TCGA-BR-7722-01A-31D-2201-08	15008958	140446797	766634	30	41139											
CACNA1B	774	broad.mit.edu	37	chr9	140850187	140850187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagagggtggagaaccgcCgcgccttcctgaagctgcgc	16	12	0	3			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr9:140850187C>T	uc004cog.2	+	8	1253	c.1108C>T	c.(1108-1110)CGC>TGC	p.R370C	CACNA1B_uc011mfd.1_5'Flank	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	370	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGAGAACCGCCGCGCCTTCCT	0.642													T	140850187	C	T	140850187	3	4	53	1	0	0	0	0	1	0	0	0	2539	652	23	1	1138	1	CACNA1B	9	140850187	Missense_Mutation	SNP	C	TCGA-BR-7722-01A-31D-2201-08	403390	140850187	363244	31	41140											
ANO9	338440	broad.mit.edu	37	chr11	419621	419621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcaggcatgggctatagCggtacttgtagaccactcgg	12	10	1	1			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr11:419621C>T	uc001lpi.2	-	20	1980	c.1895G>A	c.(1894-1896)CGC>CAC	p.R632H	SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Missense_Mutation_p.R325H|ANO9_uc010qvv.1_Missense_Mutation_p.R488H	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	632	Extracellular (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						TGGGCTATAGCGGTACTTGTA	0.567													T	419621	C	T	419621	3	4	53	1	0	0	0	0	1	0	0	0	704	768	27	1	469	1	ANO9	11	419621	Missense_Mutation	SNP	C	TCGA-BR-7722-01A-31D-2201-08		419621	134586895	32	41141											
OR10A4	283297	broad.mit.edu	37	chr11	6898608	6898608	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcattctccacctgttccGcccacctcttggttgtctct	7	16	3	0			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr11:6898608G>T	uc010rat.1	+	1	730	c.730G>T	c.(730-732)GCC>TCC	p.A244S		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A,	244	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACCTGTTCCGCCCACCTCTT	0.527													T	6898608	G	T	6898608	3	4	53	1	0	0	0	0	1	0	0	0	10892	1087	38	5	732	5	OR10A4	11	6898608	Missense_Mutation	SNP	G	TCGA-BR-7722-01A-31D-2201-08	6478987	6898608	128107908	33	41142											
MRVI1	10335	broad.mit.edu	37	chr11	10673689	10673689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccggaacctccgctgcGtcagccccaaagatgctcca	10	17	1	1			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr11:10673689G>A	uc010rcc.1	-	2	494	c.108C>T	c.(106-108)GAC>GAT	p.D36D	MRVI1_uc001miw.2_Silent_p.D27D|MRVI1_uc010rcb.1_Silent_p.D27D|MRVI1_uc009ygb.1_Translation_Start_Site|MRVI1_uc001mix.2_Translation_Start_Site|MRVI1_uc001miz.2_Intron|MRVI1_uc009ygc.1_Intron|MRVI1_uc010rcd.1_Silent_p.D36D|MRVI1_uc009ygd.1_Intron	NM_001100167	NP_001093637	Q9Y6F6	MRVI1_HUMAN	JAW1-related protein isoform c	27					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				ovary(2)|central_nervous_system(1)	3				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CCTCCGCTGCGTCAGCCCCAA	0.647													A	10673689	G	A	10673689	2	1	53	1	0	0	0	0	0	0	0	1	9853	1136	40	1		1	MRVI1	11	10673689	Silent	SNP	G	TCGA-BR-7722-01A-31D-2201-08	3775081	10673689	124332827	34	41143											
METT5D1	196074	broad.mit.edu	37	chr11	28318379	28318379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctatcctaagaacatacGgggaggagaagcatgccaag	11	9	1	2	rs145080229		TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr11:28318379G>A	uc001msh.2	+	6	1134	c.679G>A	c.(679-681)GGG>AGG	p.G227R	METT5D1_uc001msg.2_Missense_Mutation_p.G227R|METT5D1_uc001mse.2_Missense_Mutation_p.R212Q|METT5D1_uc001msi.2_Missense_Mutation_p.G24R	NM_001113528	NP_001107000	A6NJ78	MET15_HUMAN	methyltransferase 5 domain containing 1 isoform	227							methyltransferase activity				0						AAGAACATACGGGGAGGAGAA	0.507													A	28318379	G	A	28318379	3	1	53	1	0	0	0	0	1	0	0	0	9492	1116	39	1	693	1	METT5D1	11	28318379	Missense_Mutation	SNP	G	TCGA-BR-7722-01A-31D-2201-08	17644690	28318379	106688137	35	41144											
FOLH1B	219595	broad.mit.edu	37	chr11	89395322	89395322	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttttttttttcagaataCgcttataggcatggaattgc	7	5	1	1			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr11:89395322C>T	uc001pda.2	+	2	433	c.-93C>T	c.(-95--91)TACGC>TATGC			NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6						TTTCAGAATACGCTTATAGGC	0.328													T	89395322	C	T	89395322	1	4	53	1	0	0	0	0	0	0	0	0	5980	551	19	1		1	FOLH1B	11	89395322	Translation_Start_Site	SNP	C	TCGA-BR-7722-01A-31D-2201-08	61076943	89395322	45611194	36	41145											
CUL5	8065	broad.mit.edu	37	chr11	107960310	107960310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttatattagacatctctgCcgatagtgaaattgaagaaa	7	6	2	4			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr11:107960310C>T	uc001pjv.2	+	13	2070	c.1403C>T	c.(1402-1404)GCC>GTC	p.A468V	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	468					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		GACATCTCTGCCGATAGTGAA	0.308													T	107960310	C	T	107960310	3	4	53	1	0	0	0	0	1	0	0	0	4059	739	26	2	1453	2	CUL5	11	107960310	Missense_Mutation	SNP	C	TCGA-BR-7722-01A-31D-2201-08	18564988	107960310	27046206	37	41146											
DSCAML1	57453	broad.mit.edu	37	chr11	117299181	117299181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccccggctcgtggaggctCggtgctgggggccggagggg	22	12	0	0			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr11:117299181C>T	uc001prh.1	-	33	6207	c.6205G>A	c.(6205-6207)GAG>AAG	p.E2069K		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	2009	Cytoplasmic (Potential).|Pro-rich.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CGTGGAGGCTCGGTGCTGGGG	0.736													T	117299181	C	T	117299181	3	4	53	1	0	0	0	0	1	0	0	0	4769	893	31	1	140	1	DSCAML1	11	117299181	Missense_Mutation	SNP	C	TCGA-BR-7722-01A-31D-2201-08	9338871	117299181	17707335	38	41147											
ALDH1L2	160428	broad.mit.edu	37	chr12	105433512	105433512	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatgatctgtttgccaAtaggagtggatccagtgaaa	10	7	3	2			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr12:105433512A>G	uc001tlc.2	-	17	2151	c.2024T>C	c.(2023-2025)ATT>ACT	p.I675T	ALDH1L2_uc009zuo.2_Missense_Mutation_p.I130T|ALDH1L2_uc009zup.2_RNA	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	675	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			skin(1)	1						CTGTTTGCCAATAGGAGTGGA	0.393													G	105433512	A	G	105433512	3	3	53	1	0	0	0	0	1	0	0	0	495	101	4	3	775	3	ALDH1L2	12	105433512	Missense_Mutation	SNP	A	TCGA-BR-7722-01A-31D-2201-08		105433512	28418383	39	41148											
TMEM132D	121256	broad.mit.edu	37	chr12	129563254	129563254	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttcagcgaggatggtgtctGacagaggagacaggatctgg	16	6	3	3			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr12:129563254G>A	uc009zyl.1	-	8	2268	c.1940C>T	c.(1939-1941)TCA>TTA	p.S647L	TMEM132D_uc001uia.2_Missense_Mutation_p.S185L	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	647	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GATGGTGTCTGACAGAGGAGA	0.567													A	129563254	G	A	129563254	3	1	53	1	0	0	0	0	1	0	0	0	16044	1294	45	4	1367	4	TMEM132D	12	129563254	Missense_Mutation	SNP	G	TCGA-BR-7722-01A-31D-2201-08	24129742	129563254	4288641	40	41149											
TMEM132D	121256	broad.mit.edu	37	chr12	130185232	130185232	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gatgctctcaaggatccctcGaccttccgtcactgtgggga	11	13	2	0			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr12:130185232G>T	uc009zyl.1	-	2	419	c.91C>A	c.(91-93)CGA>AGA	p.R31R		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	31	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGGATCCCTCGACCTTCCGTC	0.443													T	130185232	G	T	130185232	2	4	53	1	0	0	0	0	0	0	0	1	16044	1066	37	5		5	TMEM132D	12	130185232	Silent	SNP	G	TCGA-BR-7722-01A-31D-2201-08	621978	130185232	3666663	41	41150											
TMCO3	55002	broad.mit.edu	37	chr13	114193756	114193756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcagggccccgtggtcaccGaggagatcgccacctccatc	11	17	2	1			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr13:114193756G>A	uc001vtu.3	+	10	1985	c.1624G>A	c.(1624-1626)GAG>AAG	p.E542K		NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	542						integral to membrane	solute:hydrogen antiporter activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CGTGGTCACCGAGGAGATCGC	0.577													A	114193756	G	A	114193756	3	1	53	1	0	0	0	0	1	0	0	0	15994	1059	37	1	1658	1	TMCO3	13	114193756	Missense_Mutation	SNP	G	TCGA-BR-7722-01A-31D-2201-08		114193756	976122	42	41151											
SPG11	80208	broad.mit.edu	37	chr15	44913993	44913993	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggagaaggatggattcttGtgttagttgatcccaccaca	13	7	1	2			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr15:44913993G>A	uc001ztx.2	-	14	2615	c.2584C>T	c.(2584-2586)CAA>TAA	p.Q862*	SPG11_uc010ueh.1_Nonsense_Mutation_p.Q862*|SPG11_uc010uei.1_Nonsense_Mutation_p.Q862*|SPG11_uc001ztz.1_5'Flank	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	862	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ATGGATTCTTGTGTTAGTTGA	0.373													A	44913993	G	A	44913993	4	1	53	1	0	0	0	0	0	1	0	0	15040	1386	48	4	4855	4	SPG11	15	44913993	Nonsense_Mutation	SNP	G	TCGA-BR-7722-01A-31D-2201-08		44913993	57617399	43	41152											
HCN4	10021	broad.mit.edu	37	chr15	73617682	73617682	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgcccaggatgctctcctcgTcgaacatcttgccctggtag	10	15	2	0			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr15:73617682T>A	uc002avp.2	-	5	2688	c.1694A>T	c.(1693-1695)GAC>GTC	p.D565V		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	565	Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		GCTCTCCTCGTCGAACATCTT	0.657													A	73617682	T	A	73617682	3	1	53	1	0	0	0	0	1	0	0	0	6999	1667	58	5	1933	5	HCN4	15	73617682	Missense_Mutation	SNP	T	TCGA-BR-7722-01A-31D-2201-08	28703689	73617682	28913710	44	41153											
NARFL	64428	broad.mit.edu	37	chr16	780985	780985	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttctccagtgtcacctcCtggaagtctttgttcctggg	9	13	3	0			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr16:780985C>T	uc002cjr.2	-	10	1062	c.1050G>A	c.(1048-1050)CAG>CAA	p.Q350Q	NARFL_uc002cjp.2_Silent_p.Q248Q|NARFL_uc002cjq.2_Silent_p.Q248Q|NARFL_uc002cjs.2_Silent_p.Q132Q	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	350					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding				0		Hepatocellular(780;0.0218)				GTGTCACCTCCTGGAAGTCTT	0.627													T	780985	C	T	780985	2	4	53	1	0	0	0	0	0	0	0	1	10168	680	24	4		4	NARFL	16	780985	Silent	SNP	C	TCGA-BR-7722-01A-31D-2201-08		780985	89573768	45	41154											
KIF2B	84643	broad.mit.edu	37	chr17	51900853	51900853	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tctccctgcctctgggaaatCcagaaactgcaggagcagcg	11	13	2	1			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr17:51900853C>G	uc002iua.2	+	1	615	c.459C>G	c.(457-459)ATC>ATG	p.I153M	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	153	Potential.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						TCTGGGAAATCCAGAAACTGC	0.557													G	51900853	C	G	51900853	3	3	53	1	0	0	0	0	1	0	0	0	8298	845	30	5	461	5	KIF2B	17	51900853	Missense_Mutation	SNP	C	TCGA-BR-7722-01A-31D-2201-08		51900853	29294357	46	41155											
SLC25A10	1468	broad.mit.edu	37	chr17	79686863	79686863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactgcgttttctgcagggCgttttccactgcgccgtgga	12	12	2	0			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr17:79686863C>T	uc002kbi.2	+	10	794	c.708C>T	c.(706-708)GGC>GGT	p.G236G	SLC25A10_uc010wut.1_Silent_p.G391G|SLC25A10_uc010dif.2_Silent_p.G245G|SLC25A10_uc010wuu.1_Silent_p.G190G	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier;	236	Solcar 3.				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TTCTGCAGGGCGTTTTCCACT	0.617													T	79686863	C	T	79686863	2	4	53	1	0	0	0	0	0	0	0	1	14472	755	27	1		1	SLC25A10	17	79686863	Silent	SNP	C	TCGA-BR-7722-01A-31D-2201-08	27786010	79686863	1508347	47	41156											
RIT2	6014	broad.mit.edu	37	chr18	40503659	40503659	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaatgattgacggtcagTgacggagtagcagatgatga	14	5	1	7			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr18:40503659T>A	uc002lav.2	-	4	477	c.304A>T	c.(304-306)ACT>TCT	p.T102S	RIT2_uc010dnf.2_Missense_Mutation_p.T102S	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	102					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			ovary(1)	1						TGACGGTCAGTGACGGAGTAG	0.463													A	40503659	T	A	40503659	3	1	53	1	0	0	0	0	1	0	0	0	13387	1696	59	5	357	5	RIT2	18	40503659	Missense_Mutation	SNP	T	TCGA-BR-7722-01A-31D-2201-08		40503659	37573589	48	41157											
SMAD4	4089	broad.mit.edu	37	chr18	48591925	48591925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggaggagatcgcttttGtttgggtcaactctccaatg	11	8	3	1			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr18:48591925G>A	uc010xdp.1	+	9	1626	c.1088G>A	c.(1087-1089)TGT>TAT	p.C363Y	SMAD4_uc002lfb.3_Missense_Mutation_p.C208Y	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	363	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(2)|p.C363R(1)|p.C363S(1)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GATCGCTTTTGTTTGGGTCAA	0.418									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				A	48591925	G	A	48591925	3	1	53	1	0	0	0	0	1	0	0	0	14760	1377	48	4	1118	4	SMAD4	18	48591925	Missense_Mutation	SNP	G	TCGA-BR-7722-01A-31D-2201-08	8088266	48591925	29485323	49	41158											
ALKBH6	84964	broad.mit.edu	37	chr19	36500365	36500365	+	Frame_Shift_Del	DEL	G	G	-													gcgggcggcggcgatgccgtGgagaagacgcgtgtaggcgg							TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr19:36500365delG	uc002oct.2	-	7	644	c.544delC	c.(544-546)CACfs	p.H182fs	C19orf46_uc002ocr.1_5'Flank|C19orf46_uc002ocs.1_5'Flank|C19orf46_uc002ocq.1_5'Flank|C19orf46_uc010een.1_5'Flank|ALKBH6_uc002ocv.1_Frame_Shift_Del_p.H210fs|ALKBH6_uc002ocx.1_Frame_Shift_Del_p.H113fs|ALKBH6_uc002ocw.1_3'UTR|ALKBH6_uc010eeo.1_Frame_Shift_Del_p.H182fs	NM_032878	NP_116267	Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 isoform 2	182	Fe2OG dioxygenase.	Iron; catalytic (By similarity).				cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCGATGCCGTGGAGAAGACGC	0.776													-	36500365	G	-	36500365	7	5	53	1	0	1	0	1	0	0	0	0	531	1348	47	0	176	0	ALKBH6	19	36500365	Frame_Shift_Del	DEL	G	TCGA-BR-7722-01A-31D-2201-08		36500365	22628618	50	41159											
ZNF607	84775	broad.mit.edu	37	chr19	38190612	38190612	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacttttcacattgatcaggTtcctcactagtatgaattgt	6	8	3	2			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr19:38190612T>C	uc002ohc.1	-	5	1016	c.420A>G	c.(418-420)GAA>GAG	p.E140E	ZNF607_uc002ohb.1_Silent_p.E139E	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATTGATCAGGTTCCTCACTAG	0.363													C	38190612	T	C	38190612	2	2	53	1	0	0	0	0	0	0	0	1	18030	1722	60	3		3	ZNF607	19	38190612	Silent	SNP	T	TCGA-BR-7722-01A-31D-2201-08	1690247	38190612	20938371	51	41160											
RYR1	6261	broad.mit.edu	37	chr19	39016073	39016073	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acactgaagaagatgctgccCatcggcctgaatatgtgtgc	11	10	0	4			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr19:39016073C>G	uc002oit.2	+	71	10687	c.10557C>G	c.(10555-10557)CCC>CCG	p.P3519P	RYR1_uc002oiu.2_Silent_p.P3514P|RYR1_uc002oiv.1_Silent_p.P434P|RYR1_uc010xuf.1_Silent_p.P439P	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3519					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGATGCTGCCCATCGGCCTGA	0.637													G	39016073	C	G	39016073	2	3	53	1	0	0	0	0	0	0	0	1	13768	581	21	5		5	RYR1	19	39016073	Silent	SNP	C	TCGA-BR-7722-01A-31D-2201-08	825461	39016073	20112910	52	41161											
FCGBP	8857	broad.mit.edu	37	chr19	40389651	40389651	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccagcccagcccagcaCctttgttgacgcagctcagg	10	17	1	1			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr19:40389651C>T	uc002omp.3	-	18	8538	c.8530_splice	c.e18+1	p.D2844_splice		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor							extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			cagcccagcACCTTTGTTGAC	0.542													T	40389651	C	T	40389651	5	4	53	1	0	0	0	0	0	0	1	0	5778	521	18	4	7762	4	FCGBP	19	40389651	Splice_Site	SNP	C	TCGA-BR-7722-01A-31D-2201-08	1373578	40389651	18739332	53	41162											
KLC3	147700	broad.mit.edu	37	chr19	45854575	45854575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacctggacaaggcccctcGgaccctcagcgccagcaccc	10	20	1	0			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr19:45854575G>A	uc002pbf.1	+	13	1590	c.1475G>A	c.(1474-1476)CGG>CAG	p.R492Q	KLC3_uc010ejy.1_Missense_Mutation_p.R491Q|KLC3_uc002pbg.1_Missense_Mutation_p.R506Q	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	kinesin light chain 3	492						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)		AAGGCCCCTCGGACCCTCAGC	0.642													A	45854575	G	A	45854575	3	1	53	1	0	0	0	0	1	0	0	0	8335	1116	39	1	1521	1	KLC3	19	45854575	Missense_Mutation	SNP	G	TCGA-BR-7722-01A-31D-2201-08	5464924	45854575	13274408	54	41163											
LILRA2	11027	broad.mit.edu	37	chr19	55086394	55086394	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccatcttctccgtgggCcccgtgagcccgagtcgcag	14	15	2	1			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr19:55086394C>T	uc002qgg.3	+	4	638	c.549C>T	c.(547-549)GGC>GGT	p.G183G	LILRA2_uc010ern.2_Silent_p.G183G|LILRA2_uc002qgf.2_Silent_p.G183G|LILRA2_uc010yfe.1_Silent_p.G183G|LILRA2_uc010yff.1_Silent_p.G171G|LILRA2_uc010ero.2_Silent_p.G171G|LILRA2_uc010yfg.1_Silent_p.G183G	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	183	Extracellular (Potential).|Ig-like C2-type 2.				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		TCTCCGTGGGCCCCGTGAGCC	0.577													T	55086394	C	T	55086394	2	4	53	1	0	0	0	0	0	0	0	1	8785	726	26	2		2	LILRA2	19	55086394	Silent	SNP	C	TCGA-BR-7722-01A-31D-2201-08	9231819	55086394	4042589	55	41164											
PTPRH	5794	broad.mit.edu	37	chr19	55703088	55703088	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaacaggaggatgcccAcaaaggctccggcaatgacc	12	11	0	2			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr19:55703088A>G	uc002qjq.2	-	11	2352	c.2279T>C	c.(2278-2280)GTG>GCG	p.V760A	PTPRH_uc010esv.2_Missense_Mutation_p.V582A|uc002qjr.2_Missense_Mutation_p.T58A	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	760	Helical; (Potential).				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GAGGATGCCCACAAAGGCTCC	0.617													G	55703088	A	G	55703088	3	3	53	1	0	0	0	0	1	0	0	0	12803	159	6	3	1108	3	PTPRH	19	55703088	Missense_Mutation	SNP	A	TCGA-BR-7722-01A-31D-2201-08	616694	55703088	3425895	56	41165											
ZNF606	80095	broad.mit.edu	37	chr19	58489997	58489997	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttaaaggatctttcacacTgattacatttatagggtttc	7	6	2	1			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr19:58489997T>C	uc002qqw.2	-	7	2669	c.2051A>G	c.(2050-2052)CAG>CGG	p.Q684R	ZNF606_uc010yhp.1_Missense_Mutation_p.Q594R	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	684	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TCTTTCACACTGATTACATTT	0.413													C	58489997	T	C	58489997	3	2	53	1	0	0	0	0	1	0	0	0	18029	1580	55	3	331	3	ZNF606	19	58489997	Missense_Mutation	SNP	T	TCGA-BR-7722-01A-31D-2201-08	2786909	58489997	638986	57	41166											
KCNG1	3755	broad.mit.edu	37	chr20	49626831	49626831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtccgaggtgcagctcagCgcgctgtagtcgtagtcaga	15	11	2	1			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr20:49626831C>T	uc002xwa.3	-	2	340	c.45G>A	c.(43-45)GCG>GCA	p.A15A	KCNG1_uc002xwb.2_Silent_p.A15A	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	15	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						TGCAGCTCAGCGCGCTGTAGT	0.667													T	49626831	C	T	49626831	2	4	53	1	0	0	0	0	0	0	0	1	8027	755	27	1		1	KCNG1	20	49626831	Silent	SNP	C	TCGA-BR-7722-01A-31D-2201-08		49626831	13398689	58	41167											
YWHAH	7533	broad.mit.edu	37	chr22	32352435	32352435	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagggtgattactaccgcTacttagcagaggtcgcttct	11	9	1	3			TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr22:32352435T>G	uc003alz.2	+	2	638	c.397T>G	c.(397-399)TAC>GAC	p.Y133D	YWHAH_uc010gwl.2_Missense_Mutation_p.Y63D|YWHAH_uc003ama.2_Missense_Mutation_p.Y63D|YWHAH_uc010gwm.2_Missense_Mutation_p.Y120D	NM_003405	NP_003396	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan	133					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			central_nervous_system(1)	1						TTACTACCGCTACTTAGCAGA	0.453													G	32352435	T	G	32352435	3	3	53	1	0	0	0	0	1	0	0	0	17501	1522	53	5	403	5	YWHAH	22	32352435	Missense_Mutation	SNP	T	TCGA-BR-7722-01A-31D-2201-08		32352435	18952131	59	41168											
SGSM3	27352	broad.mit.edu	37	chr22	40800320	40800320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgctccacagaggctgcGgtggcaggcccacctggagt	16	12	0	1	rs73420601	by1000genomes	TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr22:40800320G>A	uc003ayu.1	+	5	436	c.227G>A	c.(226-228)CGG>CAG	p.R76Q	SGSM3_uc010gyc.1_Missense_Mutation_p.R76Q|SGSM3_uc011aos.1_Missense_Mutation_p.R9Q|SGSM3_uc011aot.1_Missense_Mutation_p.R13Q|SGSM3_uc010gyd.1_Missense_Mutation_p.R76Q	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	76					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2						CAGAGGCTGCGGTGGCAGGCC	0.597													A	40800320	G	A	40800320	3	1	53	1	0	0	0	0	1	0	0	0	14224	1116	39	1	241	1	SGSM3	22	40800320	Missense_Mutation	SNP	G	TCGA-BR-7722-01A-31D-2201-08	8447885	40800320	10504246	60	41169											
ACO2	50	broad.mit.edu	37	chr22	41924552	41924552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctgaaccacaccttcaacGagacgcagattgagtggttc	9	12	1	4	rs115203053	byFrequency	TCGA-BR-7722-01A-31D-2201-08	TCGA-BR-7722-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fa9cfba-0f49-47d0-ab54-9dd2144e0a73	1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c	g.chr22:41924552G>A	uc003bac.2	+	18	2300	c.2278G>A	c.(2278-2280)GAG>AAG	p.E760K	ACO2_uc003bad.2_Missense_Mutation_p.E785K|POLR3H_uc003bae.2_RNA|POLR3H_uc003baf.2_3'UTR|POLR3H_uc003bag.2_3'UTR|POLR3H_uc003bai.2_3'UTR	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	760					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(2)|ovary(1)|lung(1)	4						CACCTTCAACGAGACGCAGAT	0.607													A	41924552	G	A	41924552	3	1	53	1	0	0	0	0	1	0	0	0	147	1059	37	1	2348	1	ACO2	22	41924552	Missense_Mutation	SNP	G	TCGA-BR-7722-01A-31D-2201-08	1124232	41924552	9380014	61	41170											
CLSTN1	22883	broad.mit.edu	37	chr1	9795564	9795564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtctgcgaattccgggcGtggggaactgccgggagttc	17	9	1	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr1:9795564G>A	uc001aqh.2	-	13	2603	c.1844C>T	c.(1843-1845)ACG>ATG	p.T615M	CLSTN1_uc001aqi.2_Missense_Mutation_p.T605M|CLSTN1_uc010oag.1_Missense_Mutation_p.T596M|CLSTN1_uc001aqf.2_5'Flank	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	615	Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		AATTCCGGGCGTGGGGAACTG	0.507													A	9795564	G	A	9795564	3	1	54	1	0	0	0	0	1	0	0	0	3561	1145	40	1	1129	1	CLSTN1	1	9795564	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08		9795564	239455057	1	41171											
LRRIQ3	127255	broad.mit.edu	37	chr1	74648428	74648428	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catagtgagggcaatgagggTtggacaggcagataatacac	14	6	0	3			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr1:74648428T>G	uc001dfy.3	-	3	559	c.367A>C	c.(367-369)ACC>CCC	p.T123P	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	123										ovary(2)	2						GCAATGAGGGTTGGACAGGCA	0.368													G	74648428	T	G	74648428	3	3	54	1	0	0	0	0	1	0	0	0	9030	1725	60	5	1531	5	LRRIQ3	1	74648428	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	64852864	74648428	174602193	2	41172											
TNNI3K	51086	broad.mit.edu	37	chr1	74957799	74957799	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgatgtctcctgcatcaAgtaacagcagtgggtctctc	10	11	3	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr1:74957799A>C	uc001dgf.1	+	23	2251	c.2200A>C	c.(2200-2202)AGT>CGT	p.S734R	TNNI3K_uc001dge.1_Missense_Mutation_p.S835R	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	734	Poly-Ser.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						TCCTGCATCAAGTAACAGCAG	0.453													C	74957799	A	C	74957799	3	2	54	1	0	0	0	0	1	0	0	0	16326	72	3	5	2645	5	TNNI3K	1	74957799	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	309371	74957799	174292822	3	41173											
ELTD1	64123	broad.mit.edu	37	chr1	79404899	79404899	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaagttttattaatatttgCagctatacagacattatcta	4	5	1	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr1:79404899C>A	uc001diq.3	-	4	526	c.370G>T	c.(370-372)GCA>TCA	p.A124S		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	124	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTAATATTTGCAGCTATACAG	0.244													A	79404899	C	A	79404899	3	1	54	1	0	0	0	0	1	0	0	0	5084	710	25	5	1750	5	ELTD1	1	79404899	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08	4447100	79404899	169845722	4	41174											
GJA8	2703	broad.mit.edu	37	chr1	147381267	147381267	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaaggtgtcaaagcaaggGctgccagctgagaagacacc	14	9	1	3			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr1:147381267G>T	uc001epu.1	+	2	1248	c.1185G>T	c.(1183-1185)GGG>GGT	p.G395G		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	395	Cytoplasmic (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					CAAAGCAAGGGCTGCCAGCTG	0.577													T	147381267	G	T	147381267	2	4	54	1	0	0	0	0	0	0	0	1	6405	1190	42	5		5	GJA8	1	147381267	Silent	SNP	G	TCGA-BR-7723-01A-11D-2053-08	67976368	147381267	101869354	5	41175											
FLG2	388698	broad.mit.edu	37	chr1	152323733	152323733	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggactcactgtgactagatcTttgtcttccagttgtcctgg	10	10	3	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr1:152323733T>C	uc001ezw.3	-	3	6602	c.6529A>G	c.(6529-6531)AGA>GGA	p.R2177G	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	2177	Filaggrin 10.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTAGATCTTTGTCTTCCA	0.512													C	152323733	T	C	152323733	3	2	54	1	0	0	0	0	1	0	0	0	5923	1617	56	3	650	3	FLG2	1	152323733	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	4942466	152323733	96926888	6	41176											
CD1C	911	broad.mit.edu	37	chr1	158261177	158261177	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attcaagaccatgcaagtcaAgattactcgaaatgtaagtt	7	7	2	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr1:158261177A>T	uc001fru.2	+	2	607	c.315A>T	c.(313-315)CAA>CAT	p.Q105H	CD1C_uc001frv.2_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	105	Extracellular (Potential).				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					ATGCAAGTCAAGATTACTCGA	0.373													T	158261177	A	T	158261177	3	4	54	1	0	0	0	0	1	0	0	0	2976	69	3	5	321	5	CD1C	1	158261177	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	5937444	158261177	90989444	7	41177											
CD1E	913	broad.mit.edu	37	chr1	158324361	158324361	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agccctggtcccatggaaacTtcagcaagcaggagctgaaa	11	11	1	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr1:158324361T>G	uc001fse.2	+	2	492	c.253T>G	c.(253-255)TTC>GTC	p.F85V	CD1E_uc010pid.1_Missense_Mutation_p.F83V|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Missense_Mutation_p.F85V|CD1E_uc001fsk.2_Missense_Mutation_p.F85V|CD1E_uc001fsj.2_Missense_Mutation_p.F85V|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.F85V|CD1E_uc001fry.2_Missense_Mutation_p.F85V|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Missense_Mutation_p.F85V|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Missense_Mutation_p.F85V|CD1E_uc009wsw.2_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	85					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					CCATGGAAACTTCAGCAAGCA	0.498													G	158324361	T	G	158324361	3	3	54	1	0	0	0	0	1	0	0	0	2978	1609	56	5	259	5	CD1E	1	158324361	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	63184	158324361	90926260	8	41178											
NR5A2	2494	broad.mit.edu	37	chr1	200090021	200090021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagttagtggcaaaacttcGttctctccagtttgatcaac	9	9	2	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr1:200090021G>A	uc001gvb.2	+	7	1522	c.1316G>A	c.(1315-1317)CGT>CAT	p.R439H	NR5A2_uc001gvc.2_Missense_Mutation_p.R393H|NR5A2_uc009wzh.2_Missense_Mutation_p.R399H|NR5A2_uc010pph.1_Missense_Mutation_p.R367H	NM_205860	NP_995582	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	439					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Prostate(682;0.19)					GCAAAACTTCGTTCTCTCCAG	0.438													A	200090021	G	A	200090021	3	1	54	1	0	0	0	0	1	0	0	0	10636	1145	40	1	1342	1	NR5A2	1	200090021	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	41765660	200090021	49160600	9	41179											
IGFN1	91156	broad.mit.edu	37	chr1	201185695	201185695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggactgtagagtgctacGtggtggagagacggcaggct	18	8	0	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr1:201185695G>A	uc001gwc.2	+	5	1661	c.889G>A	c.(889-891)GTG>ATG	p.V297M	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						AGAGTGCTACGTGGTGGAGAG	0.667													A	201185695	G	A	201185695	3	1	54	1	0	0	0	0	1	0	0	0	7590	1145	40	1	9467	1	IGFN1	1	201185695	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	1095674	201185695	48064926	10	41180											
C4BPA	722	broad.mit.edu	37	chr1	207317917	207317917	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggctgtgaacaagtgcTcacaggcaaaagactcatgc	11	10	2	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr1:207317917T>C	uc001hfo.2	+	12	1843	c.1649T>C	c.(1648-1650)CTC>CCC	p.L550P		NM_000715	NP_000706	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	550					complement activation, classical pathway|innate immune response	extracellular region	protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						GAACAAGTGCTCACAGGCAAA	0.463													C	207317917	T	C	207317917	3	2	54	1	0	0	0	0	1	0	0	0	2249	1551	54	3	1691	3	C4BPA	1	207317917	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	6132222	207317917	41932704	11	41181											
HHIPL2	79802	broad.mit.edu	37	chr1	222721161	222721161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaccgggcagcgatgcggcGgtccttgtgctgatcacagc	15	12	1	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr1:222721161G>A	uc001hnh.1	-	1	284	c.226C>T	c.(226-228)CGC>TGC	p.R76C		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	76					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		GCGATGCGGCGGTCCTTGTGC	0.532													A	222721161	G	A	222721161	3	1	54	1	0	0	0	0	1	0	0	0	7094	1116	39	1	1984	1	HHIPL2	1	222721161	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	15403244	222721161	26529460	12	41182											
OR2B11	127623	broad.mit.edu	37	chr1	247614817	247614817	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcacgaaggagttgccgaaGccactgagccaggccagagc	14	12	0	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr1:247614817G>T	uc010pyx.1	-	1	468	c.468C>A	c.(466-468)GGC>GGA	p.G156G		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B,	156	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)	1	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGTTGCCGAAGCCACTGAGCC	0.612													T	247614817	G	T	247614817	2	4	54	1	0	0	0	0	0	0	0	1	10988	958	34	5		5	OR2B11	1	247614817	Silent	SNP	G	TCGA-BR-7723-01A-11D-2053-08	24893656	247614817	1635804	13	41183											
OR14A16	284532	broad.mit.edu	37	chr1	247978499	247978499	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagctaataactggggaatgTcacagaagaactgatggacc	11	7	1	3			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr1:247978499T>A	uc001idm.1	-	1	533	c.533A>T	c.(532-534)GAC>GTC	p.D178V		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A,	178	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTGGGGAATGTCACAGAAGAA	0.413													A	247978499	T	A	247978499	3	1	54	1	0	0	0	0	1	0	0	0	10945	1667	58	5	400	5	OR14A16	1	247978499	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	363682	247978499	1272122	14	41184											
OR2M5	127059	broad.mit.edu	37	chr1	248308897	248308897	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatgactgccttctcctggAtcctgggctctatggatgca	10	11	2	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr1:248308897A>G	uc010pze.1	+	1	448	c.448A>G	c.(448-450)ATC>GTC	p.I150V		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	150	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CTTCTCCTGGATCCTGGGCTC	0.458													G	248308897	A	G	248308897	3	3	54	1	0	0	0	0	1	0	0	0	11013	333	12	3	450	3	OR2M5	1	248308897	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	330398	248308897	941724	15	41185											
OR2T1	26696	broad.mit.edu	37	chr1	248569626	248569626	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttcatacacccatgtacTtcctcctcagccacctttcc	3	19	2	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr1:248569626T>G	uc010pzm.1	+	1	331	c.331T>G	c.(331-333)TTC>GTC	p.F111V		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	111	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCCATGTACTTCCTCCTCAG	0.428													G	248569626	T	G	248569626	3	3	54	1	0	0	0	0	1	0	0	0	11016	1609	56	5	333	5	OR2T1	1	248569626	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	260729	248569626	680995	16	41186											
TPO	7173	broad.mit.edu	37	chr2	1497732	1497732	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggaggcttagctgaaaacTtcctccccagggctcggaca	12	12	0	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr2:1497732T>C	uc002qww.2	+	11	2018	c.1927T>C	c.(1927-1929)TTC>CTC	p.F643L	TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.F586L|TPO_uc002qwr.2_Missense_Mutation_p.F643L|TPO_uc002qwx.2_Missense_Mutation_p.F586L|TPO_uc010yio.1_Missense_Mutation_p.F470L|TPO_uc010yip.1_Missense_Mutation_p.F643L|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	643	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGCTGAAAACTTCCTCCCCAG	0.582													C	1497732	T	C	1497732	3	2	54	1	0	0	0	0	1	0	0	0	16407	1609	56	3	1965	3	TPO	2	1497732	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08		1497732	241701641	17	41187											
XDH	7498	broad.mit.edu	37	chr2	31572645	31572645	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggtgaaaccctcaagcTtctggttgaagtgtgtcagg	13	8	3	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr2:31572645T>G	uc002rnv.1	-	26	2955	c.2876A>C	c.(2875-2877)AAG>ACG	p.K959T		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	959					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ACCCTCAAGCTTCTGGTTGAA	0.502													G	31572645	T	G	31572645	3	3	54	1	0	0	0	0	1	0	0	0	17423	1609	56	5	1169	5	XDH	2	31572645	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	30074913	31572645	211626728	18	41188											
BIRC6	57448	broad.mit.edu	37	chr2	32602775	32602775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcttgttgttagacactGctctgcaaactccagtttca	7	10	3	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr2:32602775G>A	uc010ezu.2	+	2	579	c.445G>A	c.(445-447)GCT>ACT	p.A149T		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	149					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					GTTAGACACTGCTCTGCAAAC	0.388													A	32602775	G	A	32602775	3	1	54	1	0	0	0	0	1	0	0	0	1438	1319	46	2	451	2	BIRC6	2	32602775	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	1030130	32602775	210596598	19	41189											
BIRC6	57448	broad.mit.edu	37	chr2	32724719	32724719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagttagtactatttctgcCgtgatagaatcggttacatt	8	7	2	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr2:32724719C>T	uc010ezu.2	+	46	8708	c.8574C>T	c.(8572-8574)GCC>GCT	p.A2858A		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2858					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CTATTTCTGCCGTGATAGAAT	0.443													T	32724719	C	T	32724719	2	4	54	1	0	0	0	0	0	0	0	1	1438	639	23	1		1	BIRC6	2	32724719	Silent	SNP	C	TCGA-BR-7723-01A-11D-2053-08	121944	32724719	210474654	20	41190											
FSHR	2492	broad.mit.edu	37	chr2	49381499	49381499	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agagcagtgacagatccgatGatgacatcctgagcccaagc	11	11	0	6			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr2:49381499G>T	uc002rww.2	-	1	132	c.58C>A	c.(58-60)CAT>AAT	p.H20N	FSHR_uc002rwx.2_Missense_Mutation_p.H20N|FSHR_uc010fbn.2_Missense_Mutation_p.H20N|FSHR_uc010fbo.1_RNA	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	20	LRRNT.|Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CAGATCCGATGATGACATCCT	0.498									Gonadal_Dysgenesis_46_XX				T	49381499	G	T	49381499	3	4	54	1	0	0	0	0	1	0	0	0	6073	1290	45	5	2069	5	FSHR	2	49381499	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	16656780	49381499	193817874	21	41191											
PROKR1	10887	broad.mit.edu	37	chr2	68882556	68882556	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaacactctgtgcttcgtgAccgtcaagaacgacaccgtc	8	14	3	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr2:68882556A>G	uc010yqj.1	+	2	1030	c.1030A>G	c.(1030-1032)ACC>GCC	p.T344A	PROKR1_uc002ses.2_RNA	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	344	Cytoplasmic (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1						GTGCTTCGTGACCGTCAAGAA	0.507													G	68882556	A	G	68882556	3	3	54	1	0	0	0	0	1	0	0	0	12552	275	10	3	1036	3	PROKR1	2	68882556	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	19501057	68882556	174316817	22	41192											
ST6GAL2	84620	broad.mit.edu	37	chr2	107459867	107459867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagcctgtcgccgtcgtcGccctcctccaacacgtggct	9	18	0	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr2:107459867G>A	uc002tdq.2	-	2	686	c.567C>T	c.(565-567)GGC>GGT	p.G189G	ST6GAL2_uc002tdr.2_Silent_p.G189G|ST6GAL2_uc002tds.3_Silent_p.G189G	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	189	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						CGCCGTCGTCGCCCTCCTCCA	0.642													A	107459867	G	A	107459867	2	1	54	1	0	0	0	0	0	0	0	1	15221	1074	38	1		1	ST6GAL2	2	107459867	Silent	SNP	G	TCGA-BR-7723-01A-11D-2053-08	38577311	107459867	135739506	23	41193											
LRP1B	53353	broad.mit.edu	37	chr2	141812802	141812802	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gccccctggcattccatatgGatcgacttcacatgcatggc	9	14	1	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr2:141812802G>C	uc002tvj.1	-	10	2407	c.1435C>G	c.(1435-1437)CCA>GCA	p.P479A	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	479	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTCCATATGGATCGACTTCA	0.433										TSP Lung(27;0.18)			C	141812802	G	C	141812802	3	2	54	1	0	0	0	0	1	0	0	0	8955	1174	41	5	12692	5	LRP1B	2	141812802	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	34352935	141812802	101386571	24	41194											
SCN3A	6328	broad.mit.edu	37	chr2	165986737	165986737	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggtttcctagagcccccaCagaattgccaatgatcttaa	8	11	1	3			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr2:165986737C>A	uc002ucx.2	-	17	3127	c.2635G>T	c.(2635-2637)GTG>TTG	p.V879L	SCN3A_uc002ucy.2_Missense_Mutation_p.V830L|SCN3A_uc002ucz.2_Missense_Mutation_p.V830L|SCN3A_uc002uda.1_Missense_Mutation_p.V699L|SCN3A_uc002udb.1_Missense_Mutation_p.V699L	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	879						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	AGAGCCCCCACAGAATTGCCA	0.428													A	165986737	C	A	165986737	3	1	54	1	0	0	0	0	1	0	0	0	13918	478	17	5	3415	5	SCN3A	2	165986737	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08	24173935	165986737	77212636	25	41195											
WIPF1	7456	broad.mit.edu	37	chr2	175431818	175431818	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccggctttcgtttcttgccAgtttgctgggataacttttg	10	9	1	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr2:175431818A>G	uc002uiy.2	-	8	1768	c.1436T>C	c.(1435-1437)CTG>CCG	p.L479P	uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.L479P|WIPF1_uc010fqt.1_Missense_Mutation_p.L479P|WIPF1_uc002uiz.2_Missense_Mutation_p.L479P|WIPF1_uc002ujb.1_Missense_Mutation_p.L479P	NM_003387	NP_003378	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	479					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)|skin(1)	2						GTTTCTTGCCAGTTTGCTGGG	0.468													G	175431818	A	G	175431818	3	3	54	1	0	0	0	0	1	0	0	0	17364	188	7	3	83	3	WIPF1	2	175431818	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	9445081	175431818	67767555	26	41196											
TTN	7273	broad.mit.edu	37	chr2	179407393	179407393	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacacatccttaccaagAatgataactttaatggtttc	5	9	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr2:179407393A>T	uc010zfg.1	-	297	89708	c.89484T>A	c.(89482-89484)ATT>ATA	p.I29828I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I23523I|TTN_uc010zfi.1_Silent_p.I23456I|TTN_uc010zfj.1_Silent_p.I23331I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30755							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTACCAAGAATGATAACTT	0.333													T	179407393	A	T	179407393	2	4	54	1	0	0	0	0	0	0	0	1	16732	242	9	5		5	TTN	2	179407393	Silent	SNP	A	TCGA-BR-7723-01A-11D-2053-08	3975575	179407393	63791980	27	41197											
ZDBF2	57683	broad.mit.edu	37	chr2	207174303	207174303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccgactgcagaaagctcAcaaagaagccagtcttcgga	9	12	3	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr2:207174303A>G	uc002vbp.2	+	5	5301	c.5051A>G	c.(5050-5052)CAC>CGC	p.H1684R		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1684							nucleic acid binding|zinc ion binding			ovary(3)	3						CAGAAAGCTCACAAAGAAGCC	0.428													G	207174303	A	G	207174303	3	3	54	1	0	0	0	0	1	0	0	0	17596	159	6	3	5061	3	ZDBF2	2	207174303	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	27766910	207174303	36025070	28	41198											
RPE	6120	broad.mit.edu	37	chr2	210884513	210884513	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaacgttctcttgatcggTgaaaccataaggagcccagt	10	9	1	3			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr2:210884513T>C	uc002vdn.2	+	6	690	c.685T>C	c.(685-687)TGA>CGA	p.*229R	RPE_uc002vdm.2_3'UTR|RPE_uc002vdo.2_Nonstop_Mutation_p.*179R|RPE_uc010zjf.1_Nonstop_Mutation_p.*200R|RPE_uc002vdp.2_Nonstop_Mutation_p.*176R|RPE_uc010fup.2_Nonstop_Mutation_p.*161R|RPE_uc002vdq.2_Nonstop_Mutation_p.*179R|RPE_uc002vdr.2_Nonstop_Mutation_p.*144R	NM_199229	NP_954699	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase isoform 1	229					pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity				0				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		TCTTGATCGGTGAAACCATAA	0.423													C	210884513	T	C	210884513	4	2	54	1	0	0	0	0	0	0	0	0	13544	1709	59	3	765	3	RPE	2	210884513	Nonstop_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	3710210	210884513	32314860	29	41199											
FBLN2	2199	broad.mit.edu	37	chr3	13659633	13659633	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgggcacagaggccgagcTgccgaacagcctgccgggcg	16	14	0	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr3:13659633T>C	uc011avb.1	+	6	1912	c.1787T>C	c.(1786-1788)CTG>CCG	p.L596P	FBLN2_uc011auz.1_Missense_Mutation_p.L622P|FBLN2_uc011ava.1_Missense_Mutation_p.L596P|FBLN2_uc011avc.1_Missense_Mutation_p.L596P	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	596						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GAGGCCGAGCTGCCGAACAGC	0.602													C	13659633	T	C	13659633	3	2	54	1	0	0	0	0	1	0	0	0	5699	1580	55	3	495	3	FBLN2	3	13659633	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08		13659633	184362797	30	41200											
C3orf39	84892	broad.mit.edu	37	chr3	43122809	43122809	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctctgtggcctgtcggcTgagggccagctcctcctcca	13	15	1	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr3:43122809T>C	uc003cmq.1	-	2	256	c.115A>G	c.(115-117)AGC>GGC	p.S39G	C3orf39_uc003cmr.1_Missense_Mutation_p.S39G	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	glycosyltransferase precursor	39						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)|skin(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		GCCTGTCGGCTGAGGGCCAGC	0.657													C	43122809	T	C	43122809	3	2	54	1	0	0	0	0	1	0	0	0	2229	1580	55	3	1631	3	C3orf39	3	43122809	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	29463176	43122809	154899621	31	41201											
GRM2	2912	broad.mit.edu	37	chr3	51747059	51747059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacccttggaacaacagcCggaacccctggttccgtgaa	11	13	0	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr3:51747059C>T	uc010hlv.2	+	3	1260	c.1021C>T	c.(1021-1023)CGG>TGG	p.R341W	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	341	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GAACAACAGCCGGAACCCCTG	0.617													T	51747059	C	T	51747059	3	4	54	1	0	0	0	0	1	0	0	0	6797	643	23	1	1027	1	GRM2	3	51747059	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08	8624250	51747059	146275371	32	41202											
PXK	54899	broad.mit.edu	37	chr3	58382783	58382783	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggtactgaagtttcttcaTgacaagggattcccttatgg	10	7	2	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr3:58382783T>C	uc003djz.1	+	10	939	c.840T>C	c.(838-840)CAT>CAC	p.H280H	PXK_uc003djx.1_Silent_p.H280H|PXK_uc003djy.1_Silent_p.H263H|PXK_uc003dka.1_Silent_p.H280H|PXK_uc003dkb.1_Silent_p.H197H|PXK_uc003dkc.1_Silent_p.H263H|PXK_uc011bfe.1_Silent_p.H247H|PXK_uc010hnj.1_Silent_p.H247H|PXK_uc003dkd.1_Silent_p.H143H|PXK_uc010hnk.1_Silent_p.H54H	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	280	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AGTTTCTTCATGACAAGGGAT	0.418													C	58382783	T	C	58382783	2	2	54	1	0	0	0	0	0	0	0	1	12849	1461	51	3		3	PXK	3	58382783	Silent	SNP	T	TCGA-BR-7723-01A-11D-2053-08	6635724	58382783	139639647	33	41203											
ROBO1	6091	broad.mit.edu	37	chr3	79174627	79174627	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtatagcccagcgaattgtCatcgttatcagaggtgggga	13	7	2	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr3:79174627C>T	uc003dqe.2	-	3	359	c.151G>A	c.(151-153)GAC>AAC	p.D51N		NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	51	Extracellular (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AGCGAATTGTCATCGTTATCA	0.502													T	79174627	C	T	79174627	3	4	54	1	0	0	0	0	1	0	0	0	13513	826	29	4	4992	4	ROBO1	3	79174627	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08	20791844	79174627	118847803	34	41204											
IMPG2	50939	broad.mit.edu	37	chr3	100951810	100951810	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaattcattacaggcctgAaacttgcaagggttggcttc	10	8	1	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr3:100951810A>G	uc003duq.1	-	15	3251	c.3048T>C	c.(3046-3048)TTT>TTC	p.F1016F	IMPG2_uc011bhe.1_Silent_p.F879F|IMPG2_uc010hpj.1_RNA	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1016	Extracellular (Potential).|EGF-like 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						TACAGGCCTGAAACTTGCAAG	0.438													G	100951810	A	G	100951810	2	3	54	1	0	0	0	0	0	0	0	1	7729	243	9	3		3	IMPG2	3	100951810	Silent	SNP	A	TCGA-BR-7723-01A-11D-2053-08	21777183	100951810	97070620	35	41205											
FAM55C	91775	broad.mit.edu	37	chr3	101540654	101540654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaccatccttcggaggatGttctcaggggttggagtata	13	8	1	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr3:101540654G>A	uc003dvn.2	+	8	2173	c.1536G>A	c.(1534-1536)ATG>ATA	p.M512I	FAM55C_uc010hpn.2_Missense_Mutation_p.M512I	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	512						extracellular region				ovary(1)|pancreas(1)|skin(1)	3						TTCGGAGGATGTTCTCAGGGG	0.537													A	101540654	G	A	101540654	3	1	54	1	0	0	0	0	1	0	0	0	5586	1377	48	4	1554	4	FAM55C	3	101540654	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	588844	101540654	96481776	36	41206											
KIAA1407	57577	broad.mit.edu	37	chr3	113761657	113761657	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttgctaattcttgcttaAgtttggtgtctaaccagtca	7	9	3	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr3:113761657A>G	uc003eax.2	-	4	455	c.308T>C	c.(307-309)CTT>CCT	p.L103P	KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.L81P|KIAA1407_uc011bip.1_Missense_Mutation_p.L90P	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	103										ovary(2)	2						TTCTTGCTTAAGTTTGGTGTC	0.368													G	113761657	A	G	113761657	3	3	54	1	0	0	0	0	1	0	0	0	8229	72	3	3	2558	3	KIAA1407	3	113761657	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	12221003	113761657	84260773	37	41207											
FSTL1	11167	broad.mit.edu	37	chr3	120115829	120115829	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggtgctcactctcttggtCttttcagctgtttcctttga	8	10	4	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr3:120115829C>A	uc003eds.2	-	11	1072	c.897G>T	c.(895-897)AAG>AAT	p.K299N	FSTL1_uc011bjh.1_Missense_Mutation_p.K264N|MIR198_hsa-mir-198|MI0000240_5'Flank	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	follistatin-like 1 precursor	299					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.189)		CTCTCTTGGTCTTTTCAGCTG	0.403													A	120115829	C	A	120115829	3	1	54	1	0	0	0	0	1	0	0	0	6077	912	32	5	33	5	FSTL1	3	120115829	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08	6354172	120115829	77906601	38	41208											
HSPBAP1	79663	broad.mit.edu	37	chr3	122459454	122459454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcctctttctgaaggcGgttcttcggacctctgtgct	10	13	4	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr3:122459454G>A	uc003efu.1	-	8	1328	c.1205C>T	c.(1204-1206)CCG>CTG	p.P402L	HSPBAP1_uc003eft.1_Missense_Mutation_p.P113L	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Hspb associated protein 1	402						cytoplasm				ovary(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.0531)		TTCTGAAGGCGGTTCTTCGGA	0.493													A	122459454	G	A	122459454	3	1	54	1	0	0	0	0	1	0	0	0	7425	1116	39	1	265	1	HSPBAP1	3	122459454	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	2343625	122459454	75562976	39	41209											
PLXND1	23129	broad.mit.edu	37	chr3	129277407	129277407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggatgttcacccagaacCggagaggaaggctgtggggt	16	8	2	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr3:129277407C>T	uc003emx.2	-	33	5409	c.5309G>A	c.(5308-5310)CGG>CAG	p.R1770Q	PLXND1_uc003emw.2_5'UTR|PLXND1_uc011blb.1_Missense_Mutation_p.R439Q	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1770	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						CACCCAGAACCGGAGAGGAAG	0.562													T	129277407	C	T	129277407	3	4	54	1	0	0	0	0	1	0	0	0	12127	652	23	1	484	1	PLXND1	3	129277407	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08	6817953	129277407	68745023	40	41210											
COL6A6	131873	broad.mit.edu	37	chr3	130354547	130354547	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taataaatgtatttagggtgAgattggggaccctggtggtc	14	4	0	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr3:130354547A>T	uc010htl.2	+	27	5064	c.5033A>T	c.(5032-5034)GAG>GTG	p.E1678V	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1678	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						ATTTAGGGTGAGATTGGGGAC	0.358													T	130354547	A	T	130354547	3	4	54	1	0	0	0	0	1	0	0	0	3703	304	11	5	5139	5	COL6A6	3	130354547	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	1077140	130354547	67667883	41	41211											
DZIP1L	199221	broad.mit.edu	37	chr3	137822699	137822699	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggtctacatccagggtgcTaatgcgtctccagtccatgc	11	13	2	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr3:137822699T>G	uc003erq.2	-	2	478	c.115A>C	c.(115-117)AGC>CGC	p.S39R	DZIP1L_uc003err.1_Missense_Mutation_p.S39R	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	39						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						TCCAGGGTGCTAATGCGTCTC	0.592													G	137822699	T	G	137822699	3	3	54	1	0	0	0	0	1	0	0	0	4864	1522	53	5	2257	5	DZIP1L	3	137822699	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	7468152	137822699	60199731	42	41212											
PAQR9	344838	broad.mit.edu	37	chr3	142681913	142681913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagcgggatgaagtgcGtccagaagttgagcgtctcg	16	9	1	3			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr3:142681913G>A	uc003evg.2	-	1	266	c.266C>T	c.(265-267)ACG>ATG	p.T89M	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	89	Helical; (Potential).					integral to membrane	receptor activity				0						GATGAAGTGCGTCCAGAAGTT	0.632													A	142681913	G	A	142681913	3	1	54	1	0	0	0	0	1	0	0	0	11442	1145	40	1	871	1	PAQR9	3	142681913	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	4859214	142681913	55340517	43	41213											
USP13	8975	broad.mit.edu	37	chr3	179460107	179460107	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtggattacctgatgcagttAcctgtggccatggaggcggc	15	9	0	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr3:179460107A>T	uc003fkh.2	+	12	1584	c.1503A>T	c.(1501-1503)TTA>TTT	p.L501F	USP13_uc003fkf.2_Missense_Mutation_p.L501F	NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	501					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TGATGCAGTTACCTGTGGCCA	0.488													T	179460107	A	T	179460107	3	4	54	1	0	0	0	0	1	0	0	0	17041	388	14	5	1549	5	USP13	3	179460107	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	36778194	179460107	18562323	44	41214											
ANK2	287	broad.mit.edu	37	chr4	114294571	114294571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctattccaaagttataaagcGtgttgtattgaagagtgaca	9	5	0	3			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr4:114294571G>A	uc003ibe.3	+	45	11925	c.11825G>A	c.(11824-11826)CGT>CAT	p.R3942H	ANK2_uc003ibd.3_Missense_Mutation_p.R1848H|ANK2_uc003ibf.3_Missense_Mutation_p.R1857H|ANK2_uc011cgc.1_Missense_Mutation_p.R1033H|ANK2_uc003ibg.3_Missense_Mutation_p.R872H|ANK2_uc003ibh.3_Missense_Mutation_p.R562H|ANK2_uc011cgd.1_Missense_Mutation_p.R1244H|ANK2_uc010imr.2_Missense_Mutation_p.R24H|ANK2_uc010ims.2_Missense_Mutation_p.R24H	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3909					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)		GTTATAAAGCGTGTTGTATTG	0.448													A	114294571	G	A	114294571	3	1	54	1	0	0	0	0	1	0	0	0	621	1145	40	1	12068	1	ANK2	4	114294571	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08		114294571	76859705	45	41215											
C4orf31	79625	broad.mit.edu	37	chr4	121957572	121957572	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctgcaggttttgactgtgGaaatatttacagaggacctt	10	6	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr4:121957572G>A	uc003idq.1	-	4	2081	c.1554C>T	c.(1552-1554)TTC>TTT	p.F518F		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	518	Fibronectin type-III 2.										0						TTTGACTGTGGAAATATTTAC	0.408													A	121957572	G	A	121957572	2	1	54	1	0	0	0	0	0	0	0	1	2261	1165	41	4		4	C4orf31	4	121957572	Silent	SNP	G	TCGA-BR-7723-01A-11D-2053-08	7663001	121957572	69196704	46	41216											
PDGFC	56034	broad.mit.edu	37	chr4	157771489	157771489	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaccgtatttcttggataAgtatgaggaaaccttgggct	11	6	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr4:157771489A>C	uc003iph.1	-	2	689	c.198T>G	c.(196-198)ACT>ACG	p.T66T	PDGFC_uc003ipi.1_5'UTR|PDGFC_uc011cis.1_Intron|PDGFC_uc011cir.1_5'UTR	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	platelet-derived growth factor C precursor	66	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			ovary(1)|lung(1)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TTCTTGGATAAGTATGAGGAA	0.383													C	157771489	A	C	157771489	2	2	54	1	0	0	0	0	0	0	0	1	11659	59	3	5		5	PDGFC	4	157771489	Silent	SNP	A	TCGA-BR-7723-01A-11D-2053-08	35813917	157771489	33382787	47	41217											
ADCY2	108	broad.mit.edu	37	chr5	7706939	7706939	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctgtgtggcgtgattggtCtgcagaagtggcaatatgat	14	6	1	3			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr5:7706939C>A	uc003jdz.1	+	8	1259	c.1192C>A	c.(1192-1194)CTG>ATG	p.L398M	ADCY2_uc011cmo.1_Missense_Mutation_p.L218M	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	398	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						CGTGATTGGTCTGCAGAAGTG	0.507													A	7706939	C	A	7706939	3	1	54	1	0	0	0	0	1	0	0	0	294	912	32	5	1222	5	ADCY2	5	7706939	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08		7706939	173208321	48	41218											
CENPH	64946	broad.mit.edu	37	chr5	68498798	68498798	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattagaaagaagagattgcGtatgtagaacactttttttt	8	3	0	4			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr5:68498798G>A	uc003jvp.2	+	7	574	c.487_splice	c.e7+1	p.Q163_splice	CENPH_uc010ixc.2_Splice_Site_p.Q144_splice	NM_022909	NP_075060	Q9H3R5	CENPH_HUMAN	centromere protein H						cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding			large_intestine(1)	1		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		AAGAGATTGCGTATGTAGAAC	0.323													A	68498798	G	A	68498798	5	1	54	1	0	0	0	0	0	0	1	0	3232	1159	40	1	514	1	CENPH	5	68498798	Splice_Site	SNP	G	TCGA-BR-7723-01A-11D-2053-08	60791859	68498798	112416462	49	41219											
VCAN	1462	broad.mit.edu	37	chr5	82816102	82816102	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atagaattgtttccttattcTggtgataaaatattagtaga	7	3	1	3			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr5:82816102T>A	uc003kii.3	+	7	2333	c.1977T>A	c.(1975-1977)TCT>TCA	p.S659S	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.S659S|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	659	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTCCTTATTCTGGTGATAAAA	0.348													A	82816102	T	A	82816102	2	1	54	1	0	0	0	0	0	0	0	1	17135	1567	55	5		5	VCAN	5	82816102	Silent	SNP	T	TCGA-BR-7723-01A-11D-2053-08	14317304	82816102	98099158	50	41220											
GPR98	84059	broad.mit.edu	37	chr5	90136635	90136635	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgggactgccaacatcActcttgtctcagatgcagat	9	10	3	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr5:90136635A>G	uc003kju.2	+	78	16948	c.16852A>G	c.(16852-16854)ACT>GCT	p.T5618A	GPR98_uc003kjt.2_Missense_Mutation_p.T3324A|GPR98_uc003kjw.2_Missense_Mutation_p.T1279A	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5618	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGCCAACATCACTCTTGTCTC	0.443													G	90136635	A	G	90136635	3	3	54	1	0	0	0	0	1	0	0	0	6721	159	6	3	17162	3	GPR98	5	90136635	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	7320533	90136635	90778625	51	41221											
RAPGEF6	51735	broad.mit.edu	37	chr5	130828379	130828379	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccattaaggctgaattGtagaggggactcgcgggaag	14	9	0	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr5:130828379G>A	uc003kvn.1	-	14	1833	c.1627C>T	c.(1627-1629)CAA>TAA	p.Q543*	RAPGEF6_uc003kvp.1_Nonsense_Mutation_p.Q593*|RAPGEF6_uc003kvo.1_Nonsense_Mutation_p.Q543*|RAPGEF6_uc010jdi.1_Nonsense_Mutation_p.Q543*|RAPGEF6_uc010jdj.1_Nonsense_Mutation_p.Q543*|RAPGEF6_uc003kvq.2_Nonsense_Mutation_p.Q260*|RAPGEF6_uc003kvr.2_Nonsense_Mutation_p.Q543*|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Nonsense_Mutation_p.Q543*	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	543	PDZ.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGGCTGAATTGTAGAGGGGAC	0.473													A	130828379	G	A	130828379	4	1	54	1	0	0	0	0	0	1	0	0	13048	1386	48	4	3724	4	RAPGEF6	5	130828379	Nonsense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	40691744	130828379	50086881	52	41222											
PCDHB9	56127	broad.mit.edu	37	chr5	140569226	140569226	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccacctcccgccccataggGgtgggaaagaaatagaggaa	12	12	0	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr5:140569226G>T	uc003liw.1	+	3	2335	c.2335G>T	c.(2335-2337)GGT>TGT	p.G779C	PCDHB10_uc003lix.2_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	779	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCCATAGGGGTGGGAAAGA	0.443													T	140569226	G	T	140569226	3	4	54	1	0	0	0	0	1	0	0	0	11549	1219	43	5	2336	5	PCDHB9	5	140569226	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	9740847	140569226	40346034	53	41223											
DOCK2	1794	broad.mit.edu	37	chr5	169423161	169423161	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctagaacacacgaactttgAgttccaggtgagtataagcc	9	10	0	3			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr5:169423161A>C	uc003maf.2	+	30	3145	c.3065A>C	c.(3064-3066)GAG>GCG	p.E1022A	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.E514A	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1022	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACGAACTTTGAGTTCCAGGTG	0.502													C	169423161	A	C	169423161	3	2	54	1	0	0	0	0	1	0	0	0	4687	304	11	5	3183	5	DOCK2	5	169423161	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	28853935	169423161	11492099	54	41224											
TBC1D9B	23061	broad.mit.edu	37	chr5	179292354	179292354	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtccggagagctggtccccTtctcctctgcaggttaggag	13	12	2	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr5:179292354T>C	uc003mlh.2	-	21	3009	c.2972A>G	c.(2971-2973)AAG>AGG	p.K991R	TBC1D9B_uc003mli.2_Missense_Mutation_p.K974R|TBC1D9B_uc003mlj.2_Missense_Mutation_p.K973R|TBC1D9B_uc003mlf.2_Missense_Mutation_p.K65R|TBC1D9B_uc003mlg.2_Missense_Mutation_p.K150R|TBC1D9B_uc011dgv.1_Missense_Mutation_p.K150R	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	991						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGGTCCCCTTCTCCTCTGC	0.527													C	179292354	T	C	179292354	3	2	54	1	0	0	0	0	1	0	0	0	15625	1609	56	3	788	3	TBC1D9B	5	179292354	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	9869193	179292354	1622906	55	41225											
SCAND3	114821	broad.mit.edu	37	chr6	28543668	28543668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacatcaaatctagccaagcGacggtagtcaactgattcct	7	11	3	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr6:28543668G>A	uc003nlo.2	-	3	1432	c.814C>T	c.(814-816)CGC>TGC	p.R272C		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	272	Potential.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTAGCCAAGCGACGGTAGTCA	0.353													A	28543668	G	A	28543668	3	1	54	1	0	0	0	0	1	0	0	0	13876	1058	37	1	3171	1	SCAND3	6	28543668	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08		28543668	142571399	56	41226											
RIMS1	22999	broad.mit.edu	37	chr6	72974729	72974729	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccaagatgcctttattacaGagcagttctcactggaatat	7	10	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr6:72974729G>A	uc003pga.2	+	20	3245	c.3168G>A	c.(3166-3168)CAG>CAA	p.Q1056Q	RIMS1_uc011dyb.1_Intron|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Intron|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgf.2_Intron|RIMS1_uc003pgg.2_Intron|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Silent_p.Q273Q|RIMS1_uc003pge.2_Intron|RIMS1_uc011dye.1_Intron|RIMS1_uc011dyf.1_Intron|RIMS1_uc010kas.1_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1056					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTTTATTACAGAGCAGTTCTC	0.373													A	72974729	G	A	72974729	2	1	54	1	0	0	0	0	0	0	0	1	13367	933	33	4		4	RIMS1	6	72974729	Silent	SNP	G	TCGA-BR-7723-01A-11D-2053-08	44431061	72974729	98140338	57	41227											
KCNQ5	56479	broad.mit.edu	37	chr6	73904338	73904338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtggatagcaaagatctttCgggttccgcacaaaacagtg	11	8	1	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr6:73904338C>T	uc003pgk.2	+	14	2347	c.2000C>T	c.(1999-2001)TCG>TTG	p.S667L	KCNQ5_uc011dyh.1_Missense_Mutation_p.S686L|KCNQ5_uc011dyi.1_Missense_Mutation_p.S677L|KCNQ5_uc010kat.2_Missense_Mutation_p.S658L|KCNQ5_uc011dyj.1_Missense_Mutation_p.S557L|KCNQ5_uc011dyk.1_Missense_Mutation_p.S417L	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	667					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AAAGATCTTTCGGGTTCCGCA	0.502													T	73904338	C	T	73904338	3	4	54	1	0	0	0	0	1	0	0	0	8086	893	31	1	2115	1	KCNQ5	6	73904338	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08	929609	73904338	97210729	58	41228											
ASCC3	10973	broad.mit.edu	37	chr6	101103582	101103582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagttttctacctgataaGccttgtgactgatgccatat	8	8	1	4			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr6:101103582G>A	uc003pqk.2	-	17	3145	c.2816C>T	c.(2815-2817)GCT>GTT	p.A939V	ASCC3_uc011eai.1_Missense_Mutation_p.A841V	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	939					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TACCTGATAAGCCTTGTGACT	0.348													A	101103582	G	A	101103582	3	1	54	1	0	0	0	0	1	0	0	0	1033	971	34	2	3896	2	ASCC3	6	101103582	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	27199244	101103582	70011485	59	41229											
REV3L	5980	broad.mit.edu	37	chr6	111696720	111696720	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaatttccatgggatgAggtagactaatttttgagtt	9	6	1	3			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr6:111696720A>T	uc003puy.3	-	13	3161	c.2838T>A	c.(2836-2838)CCT>CCA	p.P946P	REV3L_uc003pux.3_Silent_p.P868P|REV3L_uc003puz.3_Silent_p.P868P	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	946					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CCATGGGATGAGGTAGACTAA	0.358								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	111696720	A	T	111696720	2	4	54	1	0	0	0	0	0	0	0	1	13240	291	11	5		5	REV3L	6	111696720	Silent	SNP	A	TCGA-BR-7723-01A-11D-2053-08	10593138	111696720	59418347	60	41230											
HSF2	3298	broad.mit.edu	37	chr6	122740353	122740353	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attggttcaaaataaccaacTtgtgagtttaaaacgtaaaa	6	5	1	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr6:122740353T>G	uc003pyu.2	+	6	759	c.572T>G	c.(571-573)CTT>CGT	p.L191R	HSF2_uc003pyt.3_Missense_Mutation_p.L191R|HSF2_uc003pyv.2_Missense_Mutation_p.L191R	NM_004506	NP_004497	Q03933	HSF2_HUMAN	heat shock transcription factor 2 isoform a	191	Hydrophobic repeat HR-A/B.				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		AATAACCAACTTGTGAGTTTA	0.274													G	122740353	T	G	122740353	3	3	54	1	0	0	0	0	1	0	0	0	7396	1609	56	5	594	5	HSF2	6	122740353	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	11043633	122740353	48374714	61	41231											
SYNE1	23345	broad.mit.edu	37	chr6	152551776	152551776	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggtttcaaaccatgttttcAgacattgtacattattttca	6	7	3	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr6:152551776A>T	uc010kiw.2	-	115	21703	c.21101T>A	c.(21100-21102)CTG>CAG	p.L7034Q	SYNE1_uc010kiv.2_Missense_Mutation_p.L1558Q|SYNE1_uc003qos.3_Missense_Mutation_p.L1558Q|SYNE1_uc003qot.3_Missense_Mutation_p.L6963Q|SYNE1_uc003qou.3_Missense_Mutation_p.L7034Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7034	Cytoplasmic (Potential).|Spectrin 22.				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)		CCATGTTTTCAGACATTGTAC	0.353										HNSCC(10;0.0054)			T	152551776	A	T	152551776	3	4	54	1	0	0	0	0	1	0	0	0	15442	188	7	5	5493	5	SYNE1	6	152551776	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	29811423	152551776	18563291	62	41232											
SP8	221833	broad.mit.edu	37	chr7	20824641	20824641	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgagttgtagcctccgagCggcgagtgcagcgaggtttg	16	10	0	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr7:20824641C>T	uc003suy.2	-	3	982	c.741G>A	c.(739-741)CCG>CCA	p.P247P	SP8_uc003suz.2_Silent_p.P265P	NM_198956	NP_945194	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor isoform 2	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1						AGCCTCCGAGCGGCGAGTGCA	0.716													T	20824641	C	T	20824641	2	4	54	1	0	0	0	0	0	0	0	1	14970	755	27	1		1	SP8	7	20824641	Silent	SNP	C	TCGA-BR-7723-01A-11D-2053-08		20824641	138314022	63	41233											
NOD1	10392	broad.mit.edu	37	chr7	30491122	30491122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagctttcgacctgaacGcggggcaggctcttcaggta	13	10	2	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr7:30491122G>A	uc003tav.2	-	6	2434	c.1911C>T	c.(1909-1911)CGC>CGT	p.R637R		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	637	LRR 1.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2						CGACCTGAACGCGGGGCAGGC	0.637													A	30491122	G	A	30491122	2	1	54	1	0	0	0	0	0	0	0	1	10516	1074	38	1		1	NOD1	7	30491122	Silent	SNP	G	TCGA-BR-7723-01A-11D-2053-08	9666481	30491122	128647541	64	41234											
PKD1L1	168507	broad.mit.edu	37	chr7	47894629	47894629	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaaatgtcgttttatttctCctattatcctgtcatcacaa	3	10	3	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr7:47894629C>T	uc003tny.1	-	30	4710	c.4710G>A	c.(4708-4710)AGG>AGA	p.R1570R		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1570	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						TTTTATTTCTCCTATTATCCT	0.358													T	47894629	C	T	47894629	2	4	54	1	0	0	0	0	0	0	0	1	11964	854	30	4		4	PKD1L1	7	47894629	Silent	SNP	C	TCGA-BR-7723-01A-11D-2053-08	17403507	47894629	111244034	65	41235											
PCLO	27445	broad.mit.edu	37	chr7	82545323	82545323	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaacagcaaatgtgttatcCgtagaaacaggtgctatcat	9	7	1	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr7:82545323C>T	uc003uhx.2	-	7	12268	c.11979G>A	c.(11977-11979)ACG>ACA	p.T3993T	PCLO_uc003uhv.2_Silent_p.T3993T|PCLO_uc010lec.2_Silent_p.T958T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3924					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ATGTGTTATCCGTAGAAACAG	0.403													T	82545323	C	T	82545323	2	4	54	1	0	0	0	0	0	0	0	1	11583	639	23	1		1	PCLO	7	82545323	Silent	SNP	C	TCGA-BR-7723-01A-11D-2053-08	34650694	82545323	76593340	66	41236											
PCLO	27445	broad.mit.edu	37	chr7	82584206	82584206	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctgaggcacaacagaAtgtaagctttctaactcata	6	10	3	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr7:82584206A>C	uc003uhx.2	-	5	6352	c.6063T>G	c.(6061-6063)CAT>CAG	p.H2021Q	PCLO_uc003uhv.2_Missense_Mutation_p.H2021Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1952					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GCACAACAGAATGTAAGCTTT	0.378													C	82584206	A	C	82584206	3	2	54	1	0	0	0	0	1	0	0	0	11583	98	4	5	9466	5	PCLO	7	82584206	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	38883	82584206	76554457	67	41237											
PTCD1	26024	broad.mit.edu	37	chr7	99027390	99027390	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagacgttgaacagggccgTgtaggtggcgtccgagggct	17	9	0	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr7:99027390T>C	uc003uqh.2	-	4	765	c.634A>G	c.(634-636)ACG>GCG	p.T212A	PTCD1_uc011kiw.1_Missense_Mutation_p.T261A	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	212	PPR 3.									ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AACAGGGCCGTGTAGGTGGCG	0.617													C	99027390	T	C	99027390	3	2	54	1	0	0	0	0	1	0	0	0	12727	1696	59	3	1488	3	PTCD1	7	99027390	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	16443184	99027390	60111273	68	41238											
GIGYF1	64599	broad.mit.edu	37	chr7	100281681	100281681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagctgctgcaggaatgcCgtgagctgctgctgctgctg	16	10	0	1	rs138722511	byFrequency	TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr7:100281681C>T	uc003uwg.1	-	15	2839	c.1830G>A	c.(1828-1830)ACG>ACA	p.T610T		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	610	Gln-rich.									large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCAGGAATGCCGTGAGCTGCT	0.697													T	100281681	C	T	100281681	2	4	54	1	0	0	0	0	0	0	0	1	6377	639	23	1		1	GIGYF1	7	100281681	Silent	SNP	C	TCGA-BR-7723-01A-11D-2053-08	1254291	100281681	58856982	69	41239											
OR2F1	26211	broad.mit.edu	37	chr7	143657492	143657492	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggagggctgtgtgctagGttggccatcacatcctgggt	15	9	1	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr7:143657492G>A	uc003wds.1	+	1	473	c.429G>A	c.(427-429)AGG>AGA	p.R143R		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F,	143	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	Melanoma(164;0.0903)					TGTGTGCTAGGTTGGCCATCA	0.527													A	143657492	G	A	143657492	2	1	54	1	0	0	0	0	0	0	0	1	10996	1252	44	4		4	OR2F1	7	143657492	Silent	SNP	G	TCGA-BR-7723-01A-11D-2053-08	43375811	143657492	15481171	70	41240											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19362744	19362744	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaggccgtgtaaggacggTgattggggctgttctctgca	16	8	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr8:19362744T>C	uc011kyn.1	-	4	1666	c.602A>G	c.(601-603)CAC>CGC	p.H201R	CSGALNACT1_uc011kyo.1_Missense_Mutation_p.H201R|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.H200R|CSGALNACT1_uc003wzh.2_RNA	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate	201	Lumenal (Potential).				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)		GTAAGGACGGTGATTGGGGCT	0.527													C	19362744	T	C	19362744	3	2	54	1	0	0	0	0	1	0	0	0	3938	1696	59	3	1024	3	CSGALNACT1	8	19362744	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08		19362744	127001278	71	41241											
ADRA1A	148	broad.mit.edu	37	chr8	26628025	26628025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtttggaagactgctttcTgcagagacactggattctca	10	8	2	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr8:26628025T>C	uc003xfh.1	-	2	1478	c.1042A>G	c.(1042-1044)AGA>GGA	p.R348G	ADRA1A_uc003xfc.1_Missense_Mutation_p.R348G|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.R348G|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.R348G	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	348	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GACTGCTTTCTGCAGAGACAC	0.542													C	26628025	T	C	26628025	3	2	54	1	0	0	0	0	1	0	0	0	334	1588	55	3	653	3	ADRA1A	8	26628025	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	7265281	26628025	119735997	72	41242											
GINS4	84296	broad.mit.edu	37	chr8	41399380	41399380	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagagtgagagaacgacaAgaaaacatactggtagaacc	11	7	0	5			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr8:41399380A>C	uc003xnx.2	+	7	747	c.537A>C	c.(535-537)CAA>CAC	p.Q179H	GINS4_uc003xny.2_Missense_Mutation_p.Q179H	NM_032336	NP_115712	Q9BRT9	SLD5_HUMAN	GINS complex subunit 4	179	Important for GINS complex assembly.				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				skin(1)	1	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			GAGAACGACAAGAAAACATAC	0.488													C	41399380	A	C	41399380	3	2	54	1	0	0	0	0	1	0	0	0	6390	69	3	5	559	5	GINS4	8	41399380	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	14771355	41399380	104964642	73	41243											
ARMC1	55156	broad.mit.edu	37	chr8	66525479	66525479	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccatctaacagaccttacCgtatcatcaaggccatctat	4	14	4	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr8:66525479C>A	uc003xvl.2	-	4	700	c.465G>T	c.(463-465)ACG>ACT	p.T155T	ARMC1_uc011leo.1_Intron	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	armadillo repeat-containing protein	155					metal ion transport		metal ion binding			skin(1)	1			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			CAGACCTTACCGTATCATCAA	0.373													A	66525479	C	A	66525479	2	1	54	1	0	0	0	0	0	0	0	1	949	666	23	5		5	ARMC1	8	66525479	Silent	SNP	C	TCGA-BR-7723-01A-11D-2053-08	25126099	66525479	79838543	74	41244											
DPY19L4	286148	broad.mit.edu	37	chr8	95793379	95793379	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacccagatacagtggaacTtatgacctggataaagtaag	10	7	0	3			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr8:95793379T>C	uc003ygx.2	+	16	1824	c.1700T>C	c.(1699-1701)CTT>CCT	p.L567P		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	dpy-19-like 4	567						integral to membrane				ovary(2)	2	Breast(36;3.85e-06)					ACAGTGGAACTTATGACCTGG	0.303													C	95793379	T	C	95793379	3	2	54	1	0	0	0	0	1	0	0	0	4743	1609	56	3	1762	3	DPY19L4	8	95793379	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	29267900	95793379	50570643	75	41245											
ZNF623	9831	broad.mit.edu	37	chr8	144733376	144733376	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccttcatccagagctccaAgctgcttctgcaccagatta	7	14	2	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr8:144733376A>G	uc003yzd.2	+	1	1423	c.1334A>G	c.(1333-1335)AAG>AGG	p.K445R	ZNF623_uc011lkp.1_Missense_Mutation_p.K405R|ZNF623_uc003yzc.2_Missense_Mutation_p.K405R	NM_014789	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623 isoform 1	445	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGAGCTCCAAGCTGCTTCTG	0.483													G	144733376	A	G	144733376	3	3	54	1	0	0	0	0	1	0	0	0	18044	72	3	3	1336	3	ZNF623	8	144733376	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	48939997	144733376	1630646	76	41246											
PARP10	84875	broad.mit.edu	37	chr8	145058498	145058498	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcccaggagaaacctggcGctgcccgggtgctccaggca	16	14	0	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr8:145058498G>A	uc003zal.3	-	6	1668	c.1560C>T	c.(1558-1560)AGC>AGT	p.S520S	PARP10_uc003zak.3_Silent_p.S226S|PARP10_uc011lku.1_Silent_p.S532S|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Silent_p.S520S	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	520						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAACCTGGCGCTGCCCGGGT	0.647													A	145058498	G	A	145058498	2	1	54	1	0	0	0	0	0	0	0	1	11455	1078	38	1		1	PARP10	8	145058498	Silent	SNP	G	TCGA-BR-7723-01A-11D-2053-08	325122	145058498	1305524	77	41247											
PARP10	84875	broad.mit.edu	37	chr8	145059121	145059121	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagaccccatgggcatcgagCtgacttgctctgcctgtccc	11	15	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr8:145059121C>G	uc003zal.3	-	5	1157	c.1049G>C	c.(1048-1050)AGC>ACC	p.S350T	PARP10_uc003zak.3_Missense_Mutation_p.S56T|PARP10_uc011lku.1_Missense_Mutation_p.S362T|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.S350T|PARP10_uc010mfn.1_Missense_Mutation_p.S265T|PARP10_uc010mfo.1_3'UTR	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	350						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCATCGAGCTGACTTGCTC	0.627													G	145059121	C	G	145059121	3	3	54	1	0	0	0	0	1	0	0	0	11455	797	28	5	2056	5	PARP10	8	145059121	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08	623	145059121	1304901	78	41248											
PPP1R16A	84988	broad.mit.edu	37	chr8	145722828	145722828	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggccgctgcccgaaatgaccTggaagaaggtgagtgtggct	16	9	0	3			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr8:145722828T>A	uc003zdd.2	+	2	1164	c.251T>A	c.(250-252)CTG>CAG	p.L84Q	uc003zde.1_Missense_Mutation_p.R96W|PPP1R16A_uc003zdf.2_Missense_Mutation_p.L84Q	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	84	ANK 1.					plasma membrane	protein binding				0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGAAATGACCTGGAAGAAGGT	0.662													A	145722828	T	A	145722828	3	1	54	1	0	0	0	0	1	0	0	0	12365	1580	55	5	253	5	PPP1R16A	8	145722828	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	663707	145722828	641194	79	41249											
TPD52L3	89882	broad.mit.edu	37	chr9	6328606	6328606	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcccagtccatgccacatgCcaggacagagacctctgtgg	10	14	1	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr9:6328606C>A	uc003zjw.2	+	1	232	c.11C>A	c.(10-12)GCC>GAC	p.A4D	TPD52L3_uc003zjv.2_Missense_Mutation_p.A4D|TPD52L3_uc003zjx.1_Missense_Mutation_p.A4D	NM_033516	NP_277051	Q96J77	TPD55_HUMAN	protein kinase NYD-SP25 isoform 1	4							protein binding				0		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		ATGCCACATGCCAGGACAGAG	0.473													A	6328606	C	A	6328606	3	1	54	1	0	0	0	0	1	0	0	0	16397	739	26	5	13	5	TPD52L3	9	6328606	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08		6328606	134884825	80	41250											
ELAVL2	1993	broad.mit.edu	37	chr9	23762120	23762120	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgactattaagttggtcTtgctgtcttctgtgttccca	9	8	3	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr9:23762120T>C	uc003zpu.2	-	2	388	c.113A>G	c.(112-114)AAG>AGG	p.K38R	ELAVL2_uc003zps.2_Missense_Mutation_p.K38R|ELAVL2_uc003zpt.2_Missense_Mutation_p.K38R|ELAVL2_uc003zpv.2_Missense_Mutation_p.K38R|ELAVL2_uc003zpw.2_Missense_Mutation_p.K38R	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	38					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TAAGTTGGTCTTGCTGTCTTC	0.443													C	23762120	T	C	23762120	3	2	54	1	0	0	0	0	1	0	0	0	5050	1609	56	3	990	3	ELAVL2	9	23762120	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	17433514	23762120	117451311	81	41251											
C9orf84	158401	broad.mit.edu	37	chr9	114466182	114466182	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaattatggcagtgtgTtcatcaattgtcaccactac	7	9	3	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr9:114466182T>G	uc004bfr.2	-	20	2889	c.2754A>C	c.(2752-2754)GAA>GAC	p.E918D	C9orf84_uc011lwt.1_Intron|C9orf84_uc004bfq.2_Missense_Mutation_p.E879D|C9orf84_uc010mug.2_Missense_Mutation_p.E829D	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	918										ovary(2)	2						TGGCAGTGTGTTCATCAATTG	0.318													G	114466182	T	G	114466182	3	3	54	1	0	0	0	0	1	0	0	0	2500	1722	60	5	1608	5	C9orf84	9	114466182	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	90704062	114466182	26747249	82	41252											
TLR4	7099	broad.mit.edu	37	chr9	120475601	120475601	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaagtgattttgggacaAccagcctaaagtatttagat	8	7	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr9:120475601A>C	uc004bjz.2	+	3	1486	c.1195A>C	c.(1195-1197)ACC>CCC	p.T399P	TLR4_uc004bka.2_Missense_Mutation_p.T359P|TLR4_uc004bkb.2_Missense_Mutation_p.T199P	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	399	Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						TTTTGGGACAACCAGCCTAAA	0.388													C	120475601	A	C	120475601	3	2	54	1	0	0	0	0	1	0	0	0	15950	43	2	5	1205	5	TLR4	9	120475601	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	6009419	120475601	20737830	83	41253											
OR1B1	347169	broad.mit.edu	37	chr9	125391418	125391418	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attcattaccaaagcatagtGcagggggtcacagatggcca	11	9	2	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr9:125391418G>T	uc011lyz.1	-	1	397	c.397C>A	c.(397-399)CAC>AAC	p.H133N		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B,	133	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AAAGCATAGTGCAGGGGGTCA	0.502													T	125391418	G	T	125391418	3	4	54	1	0	0	0	0	1	0	0	0	10951	1319	46	5	562	5	OR1B1	9	125391418	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	4915817	125391418	15822013	84	41254											
CERCAM	51148	broad.mit.edu	37	chr9	131196429	131196429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtttgaggatgacgtgCgctttgagagcaacttcagg	15	6	1	3	rs148628855	byFrequency	TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr9:131196429C>T	uc004buz.3	+	10	1650	c.1252C>T	c.(1252-1254)CGC>TGC	p.R418C	CERCAM_uc004buy.1_Missense_Mutation_p.R340C|CERCAM_uc010mxz.2_Missense_Mutation_p.R340C|CERCAM_uc010mya.1_Missense_Mutation_p.R259C	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule 1	418					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				pancreas(1)	1						GGATGACGTGCGCTTTGAGAG	0.607													T	131196429	C	T	131196429	3	4	54	1	0	0	0	0	1	0	0	0	3266	768	27	1	1290	1	CERCAM	9	131196429	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08	5805011	131196429	10017002	85	41255											
COBRA1	25920	broad.mit.edu	37	chr9	140151447	140151447	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agagcgctctcttcagtacaGagctctctgtcctgcacaac	8	14	3	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr9:140151447G>T	uc004cmm.3	+	4	741	c.538G>T	c.(538-540)GAG>TAG	p.E180*		NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	cofactor of BRCA1	180					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)		CTTCAGTACAGAGCTCTCTGT	0.617													T	140151447	G	T	140151447	4	4	54	1	0	0	0	0	0	1	0	0	3655	943	33	5	552	5	COBRA1	9	140151447	Nonsense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	8955018	140151447	1061984	86	41256											
PFKP	5214	broad.mit.edu	37	chr10	3147323	3147323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccaccagaggaccttcGttctggaggtgatgggacga	14	11	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr10:3147323G>A	uc001igp.2	+	6	673	c.637G>A	c.(637-639)GTT>ATT	p.V213I	PFKP_uc001igq.2_Missense_Mutation_p.V205I|PFKP_uc009xhr.2_Missense_Mutation_p.V175I|PFKP_uc009xhs.1_5'UTR|PFKP_uc009xht.2_5'Flank	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	213					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GAGGACCTTCGTTCTGGAGGT	0.607													A	3147323	G	A	3147323	3	1	54	1	0	0	0	0	1	0	0	0	11766	1145	40	1	659	1	PFKP	10	3147323	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08		3147323	132387424	87	41257											
ARMC4	55130	broad.mit.edu	37	chr10	28224130	28224130	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcacaagtacttcttcaggCtgatctgttagaagtcccac	7	11	4	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr10:28224130C>A	uc009xky.2	-	16	2402	c.2304G>T	c.(2302-2304)CAG>CAT	p.Q768H	ARMC4_uc010qds.1_Missense_Mutation_p.Q293H|ARMC4_uc010qdt.1_Missense_Mutation_p.Q460H|ARMC4_uc001itz.2_Missense_Mutation_p.Q768H	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	768	ARM 5.						binding			ovary(4)|skin(2)	6						CTTCTTCAGGCTGATCTGTTA	0.443													A	28224130	C	A	28224130	3	1	54	1	0	0	0	0	1	0	0	0	953	796	28	5	850	5	ARMC4	10	28224130	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08	25076807	28224130	107310617	88	41258											
TACC2	10579	broad.mit.edu	37	chr10	123843296	123843296	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcctcgcttcattcccagcTgctcagattcctattgctgt	7	14	2	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr10:123843296T>A	uc001lfv.2	+	4	1641	c.1281T>A	c.(1279-1281)GCT>GCA	p.A427A	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.A427A|TACC2_uc010qtv.1_Silent_p.A427A	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	427						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CATTCCCAGCTGCTCAGATTC	0.557													A	123843296	T	A	123843296	2	1	54	1	0	0	0	0	0	0	0	1	15499	1567	55	5		5	TACC2	10	123843296	Silent	SNP	T	TCGA-BR-7723-01A-11D-2053-08	95619166	123843296	11691451	89	41259											
MUC6	4588	broad.mit.edu	37	chr11	1016757	1016757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtacttggagtcaccaagGaggtggagaaaggtggaacg	17	5	1	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr11:1016757G>A	uc001lsw.2	-	31	6095	c.6044C>T	c.(6043-6045)TCC>TTC	p.S2015F		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	2015	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTCACCAAGGAGGTGGAGAA	0.542													A	1016757	G	A	1016757	3	1	54	1	0	0	0	0	1	0	0	0	9980	1174	41	4	1287	4	MUC6	11	1016757	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08		1016757	133989759	90	41260											
MUC5B	727897	broad.mit.edu	37	chr11	1267074	1267074	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgccctcctccactccaggGacgacctggatcctcacaga	8	18	1	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr11:1267074G>A	uc009ycr.1	+	49	10839	c.10713G>A	c.(10711-10713)GGG>GGA	p.G3571G	MUC5B_uc001ltb.2_Silent_p.G2991G	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2988	7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACTCCAGGGACGACCTGGA	0.637													A	1267074	G	A	1267074	2	1	54	1	0	0	0	0	0	0	0	1	9979	1161	41	4		4	MUC5B	11	1267074	Silent	SNP	G	TCGA-BR-7723-01A-11D-2053-08	250317	1267074	133739442	91	41261											
OR51E1	143503	broad.mit.edu	37	chr11	4674666	4674666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacaaaggagattcgacagCgcatccttcgacttttccat	8	11	0	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr11:4674666C>T	uc001lzi.3	+	2	1054	c.910C>T	c.(910-912)CGC>TGC	p.R304C		NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E,	303	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|pancreas(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATTCGACAGCGCATCCTTCG	0.478													T	4674666	C	T	4674666	3	4	54	1	0	0	0	0	1	0	0	0	11094	768	27	1	912	1	OR51E1	11	4674666	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08	3407592	4674666	130331850	92	41262											
OR2D2	120776	broad.mit.edu	37	chr11	6913041	6913041	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccttgagactccccacagTtgacttcatcttgaccacag	7	14	2	3			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr11:6913041T>G	uc010rau.1	-	1	691	c.691A>C	c.(691-693)ACT>CCT	p.T231P		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCCCCACAGTTGACTTCATC	0.438													G	6913041	T	G	6913041	3	3	54	1	0	0	0	0	1	0	0	0	10994	1725	60	5	238	5	OR2D2	11	6913041	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	2238375	6913041	128093475	93	41263											
TPH1	7166	broad.mit.edu	37	chr11	18062241	18062241	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctccaacttcattctttaaGgaaaaaatgagacttgctct	5	10	3	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr11:18062241G>C	uc001mnp.2	-	1	95	c.69C>G	c.(67-69)TCC>TCG	p.S23S	TPH1_uc009yhe.2_RNA	NM_004179	NP_004170	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	23	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity				0					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	CATTCTTTAAGGAAAAAATGA	0.328													C	18062241	G	C	18062241	2	2	54	1	0	0	0	0	0	0	0	1	16398	987	35	5		5	TPH1	11	18062241	Silent	SNP	G	TCGA-BR-7723-01A-11D-2053-08	11149200	18062241	116944275	94	41264											
ACCSL	390110	broad.mit.edu	37	chr11	44074584	44074584	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttccagctcactgtggacaAgttagaggaagccctgcttg	11	10	1	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr11:44074584A>C	uc001mxw.1	+	7	970	c.914A>C	c.(913-915)AAG>ACG	p.K305T	ACCSL_uc009ykr.2_Missense_Mutation_p.K124T	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	305							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						ACTGTGGACAAGTTAGAGGAA	0.438													C	44074584	A	C	44074584	3	2	54	1	0	0	0	0	1	0	0	0	134	72	3	5	940	5	ACCSL	11	44074584	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	26012343	44074584	90931932	95	41265											
OR1S1	219959	broad.mit.edu	37	chr11	57982698	57982698	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cattttgctcacagtcatctCatggttcctcagtaatatta	5	10	4	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr11:57982698C>T	uc010rkc.1	+	1	482	c.482C>T	c.(481-483)TCA>TTA	p.S161L		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	161	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)				ACAGTCATCTCATGGTTCCTC	0.473													T	57982698	C	T	57982698	3	4	54	1	0	0	0	0	1	0	0	0	10972	838	29	4	484	4	OR1S1	11	57982698	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08	13908114	57982698	77023818	96	41266											
SCGB1D4	404552	broad.mit.edu	37	chr11	62064966	62064966	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactttttcaatgagagtcGtttcttaaaagatatctgat	8	5	3	3			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr11:62064966G>A	uc001ntd.1	-	2	274	c.220C>T	c.(220-222)CGA>TGA	p.R74*		NM_206998	NP_996881	Q6XE38	SG1D4_HUMAN	secretoglobin family 1D member 4 precursor	74						extracellular region	binding				0						AATGAGAGTCGTTTCTTAAAA	0.448													A	62064966	G	A	62064966	4	1	54	1	0	0	0	0	0	1	0	0	13898	1153	40	1	39	1	SCGB1D4	11	62064966	Nonsense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	4082268	62064966	72941550	97	41267											
AHNAK	79026	broad.mit.edu	37	chr11	62298581	62298581	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatctaccttgggacctctgAtgtccacatctggaacctgc	8	13	3	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr11:62298581A>G	uc001ntl.2	-	5	3608	c.3308T>C	c.(3307-3309)ATC>ACC	p.I1103T	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1103					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GGGACCTCTGATGTCCACATC	0.458													G	62298581	A	G	62298581	3	3	54	1	0	0	0	0	1	0	0	0	414	333	12	3	14484	3	AHNAK	11	62298581	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	233615	62298581	72707935	98	41268											
FAM89B	23625	broad.mit.edu	37	chr11	65341036	65341036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagcctgcctcctgaccCgccaccccttactgtgcccc	7	22	0	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr11:65341036C>T	uc001oem.2	+	2	776	c.455C>T	c.(454-456)CCG>CTG	p.P152L	FAM89B_uc001oen.2_3'UTR|FAM89B_uc001oel.2_Missense_Mutation_p.P165L|EHBP1L1_uc001oeo.3_5'Flank	NM_152832	NP_690045	Q8N5H3	FA89B_HUMAN	family with sequence similarity 89, member B	152											0						CCTCCTGACCCGCCACCCCTT	0.662													T	65341036	C	T	65341036	3	4	54	1	0	0	0	0	1	0	0	0	5648	652	23	1	510	1	FAM89B	11	65341036	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08	3042455	65341036	69665480	99	41269											
ANKRD42	338699	broad.mit.edu	37	chr11	82938901	82938901	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctgataatggatcaacTcctatgcataaaggtgagtt	10	7	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr11:82938901T>A	uc001ozz.1	+	7	1238	c.816T>A	c.(814-816)ACT>ACA	p.T272T	ANKRD42_uc010rsv.1_Silent_p.T300T|ANKRD42_uc001paa.2_Silent_p.T300T|ANKRD42_uc001pab.1_Silent_p.T299T	NM_182603	NP_872409	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	272	ANK 8.									skin(1)	1						ATGGATCAACTCCTATGCATA	0.378													A	82938901	T	A	82938901	2	1	54	1	0	0	0	0	0	0	0	1	670	1538	54	5		5	ANKRD42	11	82938901	Silent	SNP	T	TCGA-BR-7723-01A-11D-2053-08	17597865	82938901	52067615	100	41270											
SLC35F2	54733	broad.mit.edu	37	chr11	107663456	107663456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccggctcggccgtgcgaGtaggggtggagcagtacagg	19	10	0	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr11:107663456G>A	uc001pjq.2	-	8	1431	c.1010C>T	c.(1009-1011)ACT>ATT	p.T337I	SLC35F2_uc010rvu.1_Missense_Mutation_p.T189I	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	337					transport	integral to membrane				central_nervous_system(1)	1		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		GGCCGTGCGAGTAGGGGTGGA	0.557													A	107663456	G	A	107663456	3	1	54	1	0	0	0	0	1	0	0	0	14589	1029	36	4	118	4	SLC35F2	11	107663456	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	24724555	107663456	27343060	101	41271											
EXPH5	23086	broad.mit.edu	37	chr11	108383530	108383530	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctggagaacactgtagtagAtggaaccacaggagcatcaa	11	9	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr11:108383530A>T	uc001pkk.2	-	6	2815	c.2704T>A	c.(2704-2706)TCT>ACT	p.S902T	EXPH5_uc010rvy.1_Missense_Mutation_p.S714T|EXPH5_uc010rvz.1_Missense_Mutation_p.S746T|EXPH5_uc010rwa.1_Missense_Mutation_p.S826T	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	902					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ACTGTAGTAGATGGAACCACA	0.443													T	108383530	A	T	108383530	3	4	54	1	0	0	0	0	1	0	0	0	5322	333	12	5	3269	5	EXPH5	11	108383530	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	720074	108383530	26622986	102	41272											
ARHGAP20	57569	broad.mit.edu	37	chr11	110451100	110451100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattcccctgagataggtcAgcttgcggttctggtcttct	10	10	4	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr11:110451100A>G	uc001pkz.1	-	16	2855	c.2570T>C	c.(2569-2571)CTG>CCG	p.L857P	ARHGAP20_uc001pky.1_Missense_Mutation_p.L834P|ARHGAP20_uc009yyb.1_Missense_Mutation_p.L821P|ARHGAP20_uc001pla.1_Missense_Mutation_p.L821P|ARHGAP20_uc001plb.2_Missense_Mutation_p.L400P	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	857					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GAGATAGGTCAGCTTGCGGTT	0.493													G	110451100	A	G	110451100	3	3	54	1	0	0	0	0	1	0	0	0	870	188	7	3	1009	3	ARHGAP20	11	110451100	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	2067570	110451100	24555416	103	41273											
BCO2	83875	broad.mit.edu	37	chr11	112046403	112046403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcctgtgatggtgcacCggctcccaggtagagggttt	13	11	0	2	rs149163526		TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr11:112046403C>T	uc001pnf.2	+	1	196	c.79C>T	c.(79-81)CGG>TGG	p.R27W	BCO2_uc001pne.1_5'UTR|BCO2_uc001png.2_Missense_Mutation_p.R27W|BCO2_uc001pnh.2_5'Flank|BCO2_uc010rwt.1_5'Flank|BCO2_uc009yyn.2_5'Flank|BCO2_uc001pni.2_5'Flank	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	27					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GATGGTGCACCGGCTCCCAGG	0.483													T	112046403	C	T	112046403	3	4	54	1	0	0	0	0	1	0	0	0	1385	643	23	1	81	1	BCO2	11	112046403	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08	1595303	112046403	22960113	104	41274											
IL10RA	3587	broad.mit.edu	37	chr11	117864106	117864106	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatgagattgccattcgcaAggtgccgggaaacttcacgg	13	9	1	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr11:117864106A>C	uc001prv.2	+	4	595	c.518A>C	c.(517-519)AAG>ACG	p.K173T	IL10RA_uc010rxl.1_Missense_Mutation_p.K153T|IL10RA_uc010rxm.1_Missense_Mutation_p.K153T|IL10RA_uc010rxn.1_Missense_Mutation_p.K24T|IL10RA_uc001prw.2_Missense_Mutation_p.K24T	NM_001558	NP_001549	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha precursor	173	Extracellular (Potential).					integral to membrane|plasma membrane	interleukin-10 receptor activity			ovary(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GCCATTCGCAAGGTGCCGGGA	0.572													C	117864106	A	C	117864106	3	2	54	1	0	0	0	0	1	0	0	0	7620	72	3	5	532	5	IL10RA	11	117864106	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	5817703	117864106	17142410	105	41275											
SC5DL	6309	broad.mit.edu	37	chr11	121174091	121174091	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttaggggctaagtgatggatCttgtactccgtgttgcagat	13	6	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr11:121174091C>T	uc001pxu.2	+	2	155	c.7C>T	c.(7-9)CTT>TTT	p.L3F	SC5DL_uc001pxs.1_Missense_Mutation_p.L3F|SC5DL_uc001pxt.2_Missense_Mutation_p.L3F|SC5DL_uc001pxv.2_Missense_Mutation_p.L3F	NM_006918	NP_008849	O75845	SC5D_HUMAN	sterol-C5-desaturase	3					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity			ovary(1)	1		Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	OV - Ovarian serous cystadenocarcinoma(1;0.0334)	BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		AGTGATGGATCTTGTACTCCG	0.373													T	121174091	C	T	121174091	3	4	54	1	0	0	0	0	1	0	0	0	13866	913	32	4	9	4	SC5DL	11	121174091	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08	3309985	121174091	13832425	106	41276											
TMEM225	338661	broad.mit.edu	37	chr11	123754862	123754862	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattagagaagtgcatggatTgaccttgcttcagcttattg	10	6	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr11:123754862T>C	uc001pzi.2	-	3	591	c.383A>G	c.(382-384)CAA>CGA	p.Q128R		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	transmembrane protein 225	128						integral to membrane				upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	3						GTGCATGGATTGACCTTGCTT	0.373													C	123754862	T	C	123754862	3	2	54	1	0	0	0	0	1	0	0	0	16144	1812	63	3	302	3	TMEM225	11	123754862	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	2580771	123754862	11251654	107	41277											
PRB2	653247	broad.mit.edu	37	chr12	11546745	11546745	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggaggtgggggaccttgAggtttgttgcctccttgtgg	17	8	0	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr12:11546745A>G	uc010shk.1	-	3	302	c.267T>C	c.(265-267)CCT>CCC	p.P89P		NM_006248	NP_006239			proline-rich protein BstNI subfamily 2												0		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGACCTTGAGGTTTGTTGC	0.617													G	11546745	A	G	11546745	2	3	54	1	0	0	0	0	0	0	0	1	12443	291	11	3		3	PRB2	12	11546745	Silent	SNP	A	TCGA-BR-7723-01A-11D-2053-08		11546745	122305150	108	41278											
EPS8	2059	broad.mit.edu	37	chr12	15811059	15811059	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaaccaaatctgcagcactaGgattctgaatatgagacttc	8	9	2	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr12:15811059G>C	uc009zif.2	-	12	1149	c.1055C>G	c.(1054-1056)CCT>CGT	p.P352R	EPS8_uc001rdb.2_Missense_Mutation_p.P352R|EPS8_uc009zig.2_Missense_Mutation_p.P92R|EPS8_uc010shv.1_Missense_Mutation_p.P92R	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	352					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TGCAGCACTAGGATTCTGAAT	0.343													C	15811059	G	C	15811059	3	2	54	1	0	0	0	0	1	0	0	0	5194	1000	35	5	1453	5	EPS8	12	15811059	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	4264314	15811059	118040836	109	41279											
SLCO1C1	53919	broad.mit.edu	37	chr12	20876091	20876091	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctatatttatgtacaagcacTgttcagttcaattctctgtt	5	8	3	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr12:20876091T>A	uc001rej.3	+	10	1444	c.1089T>A	c.(1087-1089)ACT>ACA	p.T363T	SLCO1C1_uc010sii.1_Silent_p.T363T|SLCO1C1_uc010sij.1_Silent_p.T314T|SLCO1C1_uc009zip.2_Silent_p.T197T|SLCO1C1_uc001rei.2_Silent_p.T363T|SLCO1C1_uc010sik.1_Silent_p.T245T	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	363	Helical; Name=7; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					GTACAAGCACTGTTCAGTTCA	0.378													A	20876091	T	A	20876091	2	1	54	1	0	0	0	0	0	0	0	1	14725	1567	55	5		5	SLCO1C1	12	20876091	Silent	SNP	T	TCGA-BR-7723-01A-11D-2053-08	5065032	20876091	112975804	110	41280											
BCAT1	586	broad.mit.edu	37	chr12	25047227	25047227	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acttccactgcatagtgcaaAgctgatgagccagggtgcaa	11	10	0	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr12:25047227A>C	uc001rgd.3	-	3	703	c.261T>G	c.(259-261)GCT>GCG	p.A87A	BCAT1_uc001rgc.2_Silent_p.A86A|BCAT1_uc010six.1_Silent_p.A99A|BCAT1_uc010siy.1_Silent_p.A87A|BCAT1_uc001rge.3_Silent_p.A63A	NM_005504	NP_005495	P54687	BCAT1_HUMAN	branched chain aminotransferase 1, cytosolic	87					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			lung(1)|breast(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	CATAGTGCAAAGCTGATGAGC	0.468													C	25047227	A	C	25047227	2	2	54	1	0	0	0	0	0	0	0	1	1354	59	3	5		5	BCAT1	12	25047227	Silent	SNP	A	TCGA-BR-7723-01A-11D-2053-08	4171136	25047227	108804668	111	41281											
ADAMTS20	80070	broad.mit.edu	37	chr12	43821195	43821195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttggaggctgcatcgcaGtaactagcactttgtccatt	11	10	0	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr12:43821195G>A	uc010skx.1	-	27	4023	c.4023C>T	c.(4021-4023)TAC>TAT	p.Y1341Y	ADAMTS20_uc001rno.1_Silent_p.Y459Y	NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1341	TSP type-1 9.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTGCATCGCAGTAACTAGCAC	0.468													A	43821195	G	A	43821195	2	1	54	1	0	0	0	0	0	0	0	1	266	1024	36	4		4	ADAMTS20	12	43821195	Silent	SNP	G	TCGA-BR-7723-01A-11D-2053-08	18773968	43821195	90030700	112	41282											
KRT73	319101	broad.mit.edu	37	chr12	53010156	53010156	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctggttctgctgctccagGaaccgcacctggaacccatg	10	15	1	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr12:53010156G>A	uc001sas.2	-	2	491	c.456C>T	c.(454-456)TTC>TTT	p.F152F		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	152	Coil 1A.|Rod.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTGCTCCAGGAACCGCACCT	0.522													A	53010156	G	A	53010156	2	1	54	1	0	0	0	0	0	0	0	1	8486	1165	41	4		4	KRT73	12	53010156	Silent	SNP	G	TCGA-BR-7723-01A-11D-2053-08	9188961	53010156	80841739	113	41283											
DGKA	1606	broad.mit.edu	37	chr12	56335305	56335305	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacacacagggtgctctggaAgttccagtatatattaaacc	8	10	1	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr12:56335305A>C	uc001sij.2	+	15	1451	c.1187A>C	c.(1186-1188)AAG>ACG	p.K396T	DGKA_uc001sih.1_Missense_Mutation_p.K284T|DGKA_uc001sii.1_Missense_Mutation_p.K254T|DGKA_uc009zod.1_Missense_Mutation_p.K315T|DGKA_uc001sik.2_Missense_Mutation_p.K396T|DGKA_uc001sil.2_Missense_Mutation_p.K396T|DGKA_uc001sim.2_Missense_Mutation_p.K396T|DGKA_uc001sin.2_Missense_Mutation_p.K396T|DGKA_uc009zof.2_Missense_Mutation_p.K42T|DGKA_uc001sio.2_Missense_Mutation_p.K138T	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	396	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	GTGCTCTGGAAGTTCCAGTAT	0.498													C	56335305	A	C	56335305	3	2	54	1	0	0	0	0	1	0	0	0	4465	72	3	5	1241	5	DGKA	12	56335305	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	3325149	56335305	77516590	114	41284											
CCDC41	51134	broad.mit.edu	37	chr12	94763808	94763808	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgaatgtttaagttctTttacctgttgataattaaaa	6	3	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr12:94763808T>C	uc001tdd.2	-	9	1524	c.938A>G	c.(937-939)AAA>AGA	p.K313R	CCDC41_uc001tde.2_Missense_Mutation_p.K313R|CCDC41_uc009zsw.1_RNA|CCDC41_uc001tdf.2_Missense_Mutation_p.K313R	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	NY-REN-58 antigen	305	Potential.										0						TTTAAGTTCTTTTACCTGTTG	0.333													C	94763808	T	C	94763808	3	2	54	1	0	0	0	0	1	0	0	0	2813	1841	64	3	1203	3	CCDC41	12	94763808	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	38428503	94763808	39088087	115	41285											
CCDC38	120935	broad.mit.edu	37	chr12	96273421	96273421	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tacttgtttataatgacttaCgttttatcctgtataacttt	4	6	0	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr12:96273421C>G	uc001tek.1	-	12	1376	c.1142_splice	c.e12+1	p.T381_splice		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38											skin(1)	1						TAATGACTTACGTTTTATCCT	0.368													G	96273421	C	G	96273421	5	3	54	1	0	0	0	0	0	0	1	0	2810	550	19	5	568	5	CCDC38	12	96273421	Splice_Site	SNP	C	TCGA-BR-7723-01A-11D-2053-08	1509613	96273421	37578474	116	41286											
MYO1H	283446	broad.mit.edu	37	chr12	109844646	109844646	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctctcacccacagaaaaaTtgaagccaaaactgaggagg	9	10	1	3			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr12:109844646T>G	uc010sxn.1	+	8	968	c.968T>G	c.(967-969)ATT>AGT	p.I323S		NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN	myosin 1H	70						myosin complex	motor activity				0						CACAGAAAAATTGAAGCCAAA	0.498													G	109844646	T	G	109844646	3	3	54	1	0	0	0	0	1	0	0	0	10075	1493	52	5	998	5	MYO1H	12	109844646	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	13571225	109844646	24007249	117	41287											
KSR2	283455	broad.mit.edu	37	chr12	117909125	117909125	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggagttcataccagattgtGctgttggcagacgttgttaa	12	6	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr12:117909125G>T	uc001two.2	-	18	2551	c.2496C>A	c.(2494-2496)GGC>GGA	p.G832G		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	861	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCAGATTGTGCTGTTGGCAG	0.522													T	117909125	G	T	117909125	2	4	54	1	0	0	0	0	0	0	0	1	8582	1333	46	5		5	KSR2	12	117909125	Silent	SNP	G	TCGA-BR-7723-01A-11D-2053-08	8064479	117909125	15942770	118	41288											
SBNO1	55206	broad.mit.edu	37	chr12	123794051	123794051	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttactgtgtataattctacGtggccagaggttgaatatcc	9	8	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr12:123794051G>A	uc010tap.1	-	26	3522	c.3522C>T	c.(3520-3522)CAC>CAT	p.H1174H	SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Silent_p.H1173H|SBNO1_uc010taq.1_Silent_p.H125H|SBNO1_uc001ues.1_Silent_p.H125H	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	1174							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATAATTCTACGTGGCCAGAGG	0.348													A	123794051	G	A	123794051	2	1	54	1	0	0	0	0	0	0	0	1	13862	1136	40	1		1	SBNO1	12	123794051	Silent	SNP	G	TCGA-BR-7723-01A-11D-2053-08	5884926	123794051	10057844	119	41289											
BRCA2	675	broad.mit.edu	37	chr13	32972435	32972435	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaagagattgatgaccAaaagaactgcaaaaagagaa	11	4	0	6			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr13:32972435A>C	uc001uub.1	+	27	10012	c.9785A>C	c.(9784-9786)CAA>CCA	p.Q3262P		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3262					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATTGATGACCAAAAGAACTGC	0.438			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			C	32972435	A	C	32972435	3	2	54	1	0	0	0	0	1	0	0	0	1499	130	5	5	9887	5	BRCA2	13	32972435	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08		32972435	82197443	120	41290											
BRCA2	675	broad.mit.edu	37	chr13	32972587	32972587	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatacgaaacacccataAagaaaaaagaactgaattct	4	9	1	3			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr13:32972587A>C	uc001uub.1	+	27	10164	c.9937A>C	c.(9937-9939)AAG>CAG	p.K3313Q		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3313					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AACACCCATAAAGAAAAAAGA	0.388			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			C	32972587	A	C	32972587	3	2	54	1	0	0	0	0	1	0	0	0	1499	15	1	5	10039	5	BRCA2	13	32972587	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	152	32972587	82197291	121	41291											
KIAA0564	23078	broad.mit.edu	37	chr13	42465633	42465633	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctctctgttttccagcaAgttgttcaaaacaggcaaaa	6	10	3	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr13:42465633A>G	uc001uyj.2	-	5	644	c.574T>C	c.(574-576)TTG>CTG	p.L192L	KIAA0564_uc001uyk.2_Silent_p.L192L	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	192						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TTTTCCAGCAAGTTGTTCAAA	0.448													G	42465633	A	G	42465633	2	3	54	1	0	0	0	0	0	0	0	1	8185	69	3	3		3	KIAA0564	13	42465633	Silent	SNP	A	TCGA-BR-7723-01A-11D-2053-08	9493046	42465633	72704245	122	41292											
PCDH20	64881	broad.mit.edu	37	chr13	61985896	61985896	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgatgctgtaagctatgAcagcattcatgcctgtgtct	9	9	2	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr13:61985896A>G	uc001vid.3	-	2	2700	c.2336T>C	c.(2335-2337)GTC>GCC	p.V779A	PCDH20_uc010thj.1_Missense_Mutation_p.V779A	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	752	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTAAGCTATGACAGCATTCAT	0.473													G	61985896	A	G	61985896	3	3	54	1	0	0	0	0	1	0	0	0	11515	275	10	3	523	3	PCDH20	13	61985896	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	19520263	61985896	53183982	123	41293											
SLITRK5	26050	broad.mit.edu	37	chr13	88328652	88328652	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccctaaggggactcgccaaCccaacaagcccagggtgcgc	11	17	0	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr13:88328652C>A	uc001vln.2	+	2	1228	c.1009C>A	c.(1009-1011)CCC>ACC	p.P337T	SLITRK5_uc010tic.1_Missense_Mutation_p.P96T	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	337	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GACTCGCCAACCCAACAAGCC	0.587													A	88328652	C	A	88328652	3	1	54	1	0	0	0	0	1	0	0	0	14746	507	18	5	1011	5	SLITRK5	13	88328652	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08	26342756	88328652	26841226	124	41294											
MIA2	117153	broad.mit.edu	37	chr14	39709847	39709847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggaaattcagatgtcaaCgaaagtgagtaaactcattc	9	6	3	3			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr14:39709847C>T	uc001wux.2	+	3	526	c.332C>T	c.(331-333)ACG>ATG	p.T111M	MIA2_uc010amy.1_Missense_Mutation_p.T42M	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	111	SH3.					extracellular region				ovary(1)|breast(1)	2	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		CAGATGTCAACGAAAGTGAGT	0.348													T	39709847	C	T	39709847	3	4	54	1	0	0	0	0	1	0	0	0	9564	536	19	1	342	1	MIA2	14	39709847	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08		39709847	67639693	125	41295											
FAM179B	23116	broad.mit.edu	37	chr14	45433301	45433301	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggatacagttgaactgcaAgataatggagatggagtgat	14	3	0	4			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr14:45433301A>G	uc001wvv.2	+	1	1886	c.1677A>G	c.(1675-1677)CAA>CAG	p.Q559Q	FAM179B_uc001wvw.2_Silent_p.Q559Q|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Silent_p.Q559Q|FAM179B_uc001wvu.2_Silent_p.Q559Q	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	559							binding			skin(2)|upper_aerodigestive_tract(1)	3						TTGAACTGCAAGATAATGGAG	0.453													G	45433301	A	G	45433301	2	3	54	1	0	0	0	0	0	0	0	1	5506	69	3	3		3	FAM179B	14	45433301	Silent	SNP	A	TCGA-BR-7723-01A-11D-2053-08	5723454	45433301	61916239	126	41296											
TBPL2	387332	broad.mit.edu	37	chr14	55881108	55881108	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgatatgctcaggctttttTaaaaccttttagaataggat	7	5	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr14:55881108T>A	uc001xby.2	-	7	1117	c.1117A>T	c.(1117-1119)AAA>TAA	p.K373*	FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbx.1_5'Flank	NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	373					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding				0						CAGGCTTTTTTAAAACCTTTT	0.328													A	55881108	T	A	55881108	4	1	54	1	0	0	0	0	0	1	0	0	15643	1763	61	5	14	5	TBPL2	14	55881108	Nonsense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	10447807	55881108	51468432	127	41297											
GPX2	2877	broad.mit.edu	37	chr14	65406340	65406340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccaggccacatctgagcGgcgcacagggctccaaatga	12	13	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr14:65406340G>A	uc010tsn.1	-	3	526	c.439C>T	c.(439-441)CGC>TGC	p.R147C	CHURC1_uc010tsj.1_Intron|CHURC1_uc010tsk.1_Intron|FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|GPX2_uc001xhy.1_RNA	NM_002083	NP_002074	P18283	GPX2_HUMAN	glutathione peroxidase 2	147					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			ovary(1)	1				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	ACATCTGAGCGGCGCACAGGG	0.562													A	65406340	G	A	65406340	3	1	54	1	0	0	0	0	1	0	0	0	6740	1116	39	1	137	1	GPX2	14	65406340	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	9525232	65406340	41943200	128	41298											
KIAA1409	57578	broad.mit.edu	37	chr14	94060075	94060075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagctgtcttccctggcaGtccctcttctcctccatgcc	6	19	4	0	rs139389360		TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr14:94060075G>A	uc001ybv.1	+	20	2634	c.2551G>A	c.(2551-2553)GTC>ATC	p.V851I	KIAA1409_uc001ybs.1_Missense_Mutation_p.V851I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1028						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		TTCCCTGGCAGTCCCTCTTCT	0.483													A	94060075	G	A	94060075	3	1	54	1	0	0	0	0	1	0	0	0	8230	1029	36	4	2629	4	KIAA1409	14	94060075	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	28653735	94060075	13289465	129	41299											
C15orf2	23742	broad.mit.edu	37	chr15	24921670	24921670	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctaccacaagttctcagaaaAcagcatgagtgagaaggccc	9	11	1	3			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr15:24921670A>T	uc001ywo.2	+	1	1130	c.656A>T	c.(655-657)AAC>ATC	p.N219I		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	219					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TTCTCAGAAAACAGCATGAGT	0.617													T	24921670	A	T	24921670	3	4	54	1	0	0	0	0	1	0	0	0	1784	43	2	5	658	5	C15orf2	15	24921670	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08		24921670	77609722	130	41300											
CTDSPL2	51496	broad.mit.edu	37	chr15	44816331	44816331	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagatgttcgaccacacatcAgagacagatttcgcttgcat	8	10	1	3			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr15:44816331A>G	uc001ztr.2	+	13	1776	c.1360A>G	c.(1360-1362)AGA>GGA	p.R454G	CTDSPL2_uc001zts.2_Missense_Mutation_p.R454G|CTDSPL2_uc001ztt.2_Missense_Mutation_p.R454G|CTDSPL2_uc010bdv.2_Missense_Mutation_p.R382G	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	454							phosphoprotein phosphatase activity				0		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		ACCACACATCAGAGACAGATT	0.388													G	44816331	A	G	44816331	3	3	54	1	0	0	0	0	1	0	0	0	4006	180	7	3	1406	3	CTDSPL2	15	44816331	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	19894661	44816331	57715061	131	41301											
CYP11A1	1583	broad.mit.edu	37	chr15	74659825	74659825	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatgccagctccctcgccAgtgggcaccctgagacgccc	12	17	0	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr15:74659825A>G	uc002axt.2	-	1	257	c.102T>C	c.(100-102)ACT>ACC	p.T34T	CYP11A1_uc002axs.2_5'Flank|CYP11A1_uc010bjm.1_5'Flank|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Silent_p.T34T|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.2_Silent_p.T34T	NM_000781	NP_000772	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A,	34					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			ovary(2)	2					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CTCCCTCGCCAGTGGGCACCC	0.632													G	74659825	A	G	74659825	2	3	54	1	0	0	0	0	0	0	0	1	4144	175	7	3		3	CYP11A1	15	74659825	Silent	SNP	A	TCGA-BR-7723-01A-11D-2053-08	29843494	74659825	27871567	132	41302											
MEX3B	84206	broad.mit.edu	37	chr15	82335547	82335547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccgcggtgtggcagaccGggcactcgggctcgctcttc	15	14	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr15:82335547G>A	uc002bgq.1	-	2	1979	c.1664C>T	c.(1663-1665)CCG>CTG	p.P555L		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	555	RING-type.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						GTGGCAGACCGGGCACTCGGG	0.637													A	82335547	G	A	82335547	3	1	54	1	0	0	0	0	1	0	0	0	9510	1116	39	1	49	1	MEX3B	15	82335547	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	7675722	82335547	20195845	133	41303											
RHCG	51458	broad.mit.edu	37	chr15	90023598	90023598	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtgagcccaaagtaggcGccaaatgtgtggatggtcat	13	8	1	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr15:90023598G>A	uc002bnz.2	-	4	588	c.564C>T	c.(562-564)GGC>GGT	p.G188G	RHCG_uc002bny.2_5'Flank|RHCG_uc002boa.2_RNA|RHCG_uc010bnq.1_Silent_p.G72G	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	188	Helical; (Potential).				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			kidney(1)	1	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CAAAGTAGGCGCCAAATGTGT	0.577													A	90023598	G	A	90023598	2	1	54	1	0	0	0	0	0	0	0	1	13326	1074	38	1		1	RHCG	15	90023598	Silent	SNP	G	TCGA-BR-7723-01A-11D-2053-08	7688051	90023598	12507794	134	41304											
IGF1R	3480	broad.mit.edu	37	chr15	99434708	99434708	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgtgtgcctgcctgcccGcccaacacctacaggtttga	10	15	1	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr15:99434708G>A	uc002bul.2	+	3	845	c.795G>A	c.(793-795)CCG>CCA	p.P265P	IGF1R_uc010urq.1_Silent_p.P265P|IGF1R_uc010bon.2_Silent_p.P265P	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	265					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CTGCCTGCCCGCCCAACACCT	0.642													A	99434708	G	A	99434708	2	1	54	1	0	0	0	0	0	0	0	1	7571	1074	38	1		1	IGF1R	15	99434708	Silent	SNP	G	TCGA-BR-7723-01A-11D-2053-08	9411110	99434708	3096684	135	41305											
PRM3	58531	broad.mit.edu	37	chr16	11367275	11367277	+	In_Frame_Del	DEL	CCT	CCT	-													ttctttctcctcctcttcccCctcctcctcctcttcctcct							TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr16:11367275_11367277delCCT	uc002dat.1	-	1	176_178	c.176_178delAGG	c.(175-180)GAGGGG>GGG	p.E59del	C16orf75_uc002daq.1_Intron	NM_021247	NP_067070	Q9NNZ6	PRM3_HUMAN	protamine 3	59	Asp/Glu-rich (highly acidic).				cell differentiation|chromosome condensation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding				0						tcctcttccccctcctcctcctc	0.468													-	11367277	CCT	-	11367275	7	5	54	1	0	1	0	1	0	0	0	0	12534	623	22	0	134	0	PRM3	16	11367275	In_Frame_Del	DEL	CCT	TCGA-BR-7723-01A-11D-2053-08		11367275	78987478	136	41306											
ACSM2B	348158	broad.mit.edu	37	chr16	20576139	20576139	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtaccccacagggtgcaaAgtccctgaacttttcgcagc	10	13	0	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr16:20576139A>C	uc002dhj.3	-	3	239	c.29T>G	c.(28-30)CTT>CGT	p.L10R	ACSM2B_uc002dhk.3_Missense_Mutation_p.L10R|ACSM2B_uc010bwf.1_Missense_Mutation_p.L10R	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	10					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5						CAGGGTGCAAAGTCCCTGAAC	0.507													C	20576139	A	C	20576139	3	2	54	1	0	0	0	0	1	0	0	0	184	72	3	5	1756	5	ACSM2B	16	20576139	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	9208864	20576139	69778614	137	41307											
PRSS36	146547	broad.mit.edu	37	chr16	31157137	31157137	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtccctgcggccctctggGtagccagcacacagcatccc	11	17	1	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr16:31157137G>A	uc002ebd.2	-	6	752	c.693C>T	c.(691-693)TAC>TAT	p.Y231Y	PRSS36_uc010vff.1_Silent_p.Y6Y|PRSS36_uc010vfg.1_Silent_p.Y231Y|PRSS36_uc010vfh.1_Silent_p.Y231Y	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	protease, serine, 36 precursor	231	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			ovary(1)	1						GGCCCTCTGGGTAGCCAGCAC	0.602													A	31157137	G	A	31157137	2	1	54	1	0	0	0	0	0	0	0	1	12625	1256	44	4		4	PRSS36	16	31157137	Silent	SNP	G	TCGA-BR-7723-01A-11D-2053-08	10580998	31157137	59197616	138	41308											
IRX5	10265	broad.mit.edu	37	chr16	54967389	54967389	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaggtcaaggacgggggcggCgggaacgagggctctccatg	19	9	2	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr16:54967389C>G	uc002ehv.2	+	3	1056	c.1056C>G	c.(1054-1056)GGC>GGG	p.G352G	IRX5_uc002ehw.2_Silent_p.G286G	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	352	Poly-Gly.				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						ACGGGGGCGGCGGGAACGAGG	0.731													G	54967389	C	G	54967389	2	3	54	1	0	0	0	0	0	0	0	1	7847	755	27	5		5	IRX5	16	54967389	Silent	SNP	C	TCGA-BR-7723-01A-11D-2053-08	23810252	54967389	35387364	139	41309											
CNOT1	23019	broad.mit.edu	37	chr16	58612764	58612764	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggacagtgtttgatagggaAgctgaagagctgtttgactt	14	4	0	4			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr16:58612764A>C	uc002env.2	-	13	1716	c.1423T>G	c.(1423-1425)TTC>GTC	p.F475V	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.F475V|CNOT1_uc002enx.2_Missense_Mutation_p.F475V|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	475					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTGATAGGGAAGCTGAAGAGC	0.458													C	58612764	A	C	58612764	3	2	54	1	0	0	0	0	1	0	0	0	3617	72	3	5	6077	5	CNOT1	16	58612764	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	3645375	58612764	31741989	140	41310											
MTSS1L	92154	broad.mit.edu	37	chr16	70697994	70697994	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacgcactcctcactgccCgcccgtgtgggccccatgta	10	17	1	1	rs144949231		TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr16:70697994C>T	uc002ezj.2	-	15	2090	c.1830G>A	c.(1828-1830)GCG>GCA	p.A610A		NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	610					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1						CCTCACTGCCCGCCCGTGTGG	0.692													T	70697994	C	T	70697994	2	4	54	1	0	0	0	0	0	0	0	1	9963	639	23	1		1	MTSS1L	16	70697994	Silent	SNP	C	TCGA-BR-7723-01A-11D-2053-08	12085230	70697994	19656759	141	41311											
BCMO1	53630	broad.mit.edu	37	chr16	81314536	81314536	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggaagaagatggccaAgtctactgccagccggaatt	12	9	1	3			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr16:81314536A>G	uc002fgn.1	+	8	1394	c.1176A>G	c.(1174-1176)CAA>CAG	p.Q392Q	BCMO1_uc010vnp.1_Silent_p.Q323Q	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase	392					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity				0						AAGATGGCCAAGTCTACTGCC	0.443													G	81314536	A	G	81314536	2	3	54	1	0	0	0	0	0	0	0	1	1384	69	3	3		3	BCMO1	16	81314536	Silent	SNP	A	TCGA-BR-7723-01A-11D-2053-08	10616542	81314536	9040217	142	41312											
ZC3H18	124245	broad.mit.edu	37	chr16	88691082	88691082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaccactgctcctgtcccCgagcccaccaagccaggaga	8	17	0	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr16:88691082C>T	uc002fky.2	+	12	2171	c.1971C>T	c.(1969-1971)CCC>CCT	p.P657P	ZC3H18_uc010voz.1_Silent_p.P681P|ZC3H18_uc010chw.2_RNA|ZC3H18_uc002fkz.2_5'Flank	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	657	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CTCCTGTCCCCGAGCCCACCA	0.692													T	88691082	C	T	88691082	2	4	54	1	0	0	0	0	0	0	0	1	17565	639	23	1		1	ZC3H18	16	88691082	Silent	SNP	C	TCGA-BR-7723-01A-11D-2053-08	7376546	88691082	1663671	143	41313											
PITPNM3	83394	broad.mit.edu	37	chr17	6374626	6374626	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagaagtggcgggctgtcCcgggagctgccctccaggaa	15	13	0	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr17:6374626C>A	uc002gdd.3	-	12	1630	c.1479G>T	c.(1477-1479)CGG>CGT	p.R493R	PITPNM3_uc010cln.2_Silent_p.R457R|PITPNM3_uc010clm.2_5'UTR|PITPNM3_uc002gdc.3_Silent_p.R84R	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	493	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GCGGGCTGTCCCGGGAGCTGC	0.662													A	6374626	C	A	6374626	2	1	54	1	0	0	0	0	0	0	0	1	11952	610	22	5		5	PITPNM3	17	6374626	Silent	SNP	C	TCGA-BR-7723-01A-11D-2053-08		6374626	74820584	144	41314											
TP53	7157	broad.mit.edu	37	chr17	7577156	7577156	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtcccagtagattaccaCtactcaggataggaaaagag	9	10	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr17:7577156C>T	uc002gim.2	-	8	977	c.783_splice	c.e8-1	p.S261_splice	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Splice_Site_p.S261_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.S129_splice|TP53_uc010cng.1_Splice_Site_p.S129_splice|TP53_uc002gii.1_Splice_Site_p.S129_splice|TP53_uc010cnh.1_Splice_Site_p.S261_splice|TP53_uc010cni.1_Splice_Site_p.S261_splice|TP53_uc002gij.2_Splice_Site_p.S261_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(18)|p.0?(7)|p.E258fs*71(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TAGATTACCACTACTCAGGAT	0.512		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577156	C	T	7577156	5	4	54	1	0	0	0	0	0	0	1	0	16378	579	20	4	504	4	TP53	17	7577156	Splice_Site	SNP	C	TCGA-BR-7723-01A-11D-2053-08	1202530	7577156	73618054	145	41315											
JUP	3728	broad.mit.edu	37	chr17	39923791	39923791	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtacaggagcaggttgtgcAgcgtggtgatggcatagaac	17	6	0	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr17:39923791A>G	uc002hxq.2	-	5	1026	c.749T>C	c.(748-750)CTG>CCG	p.L250P	JUP_uc010wfs.1_Missense_Mutation_p.L250P|JUP_uc002hxr.2_Missense_Mutation_p.L250P|JUP_uc002hxs.2_Missense_Mutation_p.L250P	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	250	ARM 2.				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CAGGTTGTGCAGCGTGGTGAT	0.627													G	39923791	A	G	39923791	3	3	54	1	0	0	0	0	1	0	0	0	7972	188	7	3	1528	3	JUP	17	39923791	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	32346635	39923791	41271419	146	41316											
WNK4	65266	broad.mit.edu	37	chr17	40945635	40945635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taacgagttcattctgccttCggagcgagatggatttctca	10	9	3	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr17:40945635C>T	uc002ibj.2	+	12	2204	c.2183C>T	c.(2182-2184)TCG>TTG	p.S728L	WNK4_uc010wgx.1_Missense_Mutation_p.S392L|WNK4_uc002ibk.1_Missense_Mutation_p.S500L|WNK4_uc010wgy.1_Missense_Mutation_p.S72L	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	728					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ATTCTGCCTTCGGAGCGAGAT	0.527													T	40945635	C	T	40945635	3	4	54	1	0	0	0	0	1	0	0	0	17377	893	31	1	2229	1	WNK4	17	40945635	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08	1021844	40945635	40249575	147	41317											
CRHR1	1394	broad.mit.edu	37	chr17	43908305	43908308	+	Splice_Site	DEL	AAGT	AAGT	-													agctgtactacgacaatgagAagtaagtcatctcctttccc							TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr17:43908304_43908307GAAGT>G	uc010dap.3	+	9	1122	c.857_splice	c.e9+1	p.K286_splice	CRHR1_uc010wjx.2_Splice_Site_p.K82_splice|CRHR1_uc002ijp.3_Splice_Site_p.K156_splice|CRHR1_uc002ijm.3_Splice_Site_p.K257_splice|CRHR1_uc002ijn.3_Splice_Site_p.K217_splice|CRHR1_uc010dar.3_Splice_Site_p.K257_splice|CRHR1_uc010dao.3_Splice_Site_p.K156_splice|CRHR1_uc010daq.3_Splice_Site_p.K82_splice|CRHR1_uc021tyu.1_Splice_Site_p.K82_splice	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA.	286					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		ACGACAATGAGAAGTAAGTCATCT	0.588													-	43908308	AAGT	-	43908305	8	5	54	1	0	1	0	1	0	0	1	0	3871	260	9	0	890	0	CRHR1	17	43908305	Splice_Site	DEL	AAGT	TCGA-BR-7723-01A-11D-2053-08	2962670	43908305	37286905	148	41318											
XYLT2	64132	broad.mit.edu	37	chr17	48433527	48433527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggtcaccaactggaacCgcaagctgggctgcaagtgc	14	12	1	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr17:48433527C>T	uc002iqo.2	+	7	1496	c.1387C>T	c.(1387-1389)CGC>TGC	p.R463C	XYLT2_uc010dbo.2_RNA	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	463	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			pancreas(1)	1	Breast(11;7.18e-19)					CAACTGGAACCGCAAGCTGGG	0.597													T	48433527	C	T	48433527	3	4	54	1	0	0	0	0	1	0	0	0	17461	652	23	1	1413	1	XYLT2	17	48433527	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08	4525222	48433527	32761683	149	41319											
KIF2B	84643	broad.mit.edu	37	chr17	51901040	51901040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaagaacatcgcatctgcGtctgcgtgaggaagcggcct	13	12	2	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr17:51901040G>A	uc002iua.2	+	1	802	c.646G>A	c.(646-648)GTC>ATC	p.V216I	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	216	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						TCGCATCTGCGTCTGCGTGAG	0.547													A	51901040	G	A	51901040	3	1	54	1	0	0	0	0	1	0	0	0	8298	1145	40	1	648	1	KIF2B	17	51901040	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	3467513	51901040	29294170	150	41320											
SCN4A	6329	broad.mit.edu	37	chr17	62026057	62026057	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttgaagcaggccctgcgcaGagtccaccacttcttcccac	8	17	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr17:62026057G>C	uc002jds.1	-	16	3135	c.3058C>G	c.(3058-3060)CTG>GTG	p.L1020V		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1020					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GCCCTGCGCAGAGTCCACCAC	0.617													C	62026057	G	C	62026057	3	2	54	1	0	0	0	0	1	0	0	0	13920	933	33	5	2488	5	SCN4A	17	62026057	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	10125017	62026057	19169153	151	41321											
MEX3C	51320	broad.mit.edu	37	chr18	48703728	48703728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttggacggtggtttgacCgggcagattaggactacatg	15	7	0	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr18:48703728C>T	uc002lfc.3	-	2	973	c.973G>A	c.(973-975)GGT>AGT	p.G325S		NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN	ring finger and KH domain containing 2	325						cytoplasm|nucleus	RNA binding|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		GTGGTTTGACCGGGCAGATTA	0.498													T	48703728	C	T	48703728	3	4	54	1	0	0	0	0	1	0	0	0	9511	652	23	1	1010	1	MEX3C	18	48703728	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08		48703728	29373520	152	41322											
CD320	51293	broad.mit.edu	37	chr19	8369960	8369960	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gctgcagtccaagtccctgtCgcagcgccaggtgaggggca	15	13	0	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr19:8369960C>G	uc002mjj.1	-	2	288	c.223G>C	c.(223-225)GAC>CAC	p.D75H	CD320_uc002mjk.1_RNA|CD320_uc002mjl.1_Intron	NM_016579	NP_057663	Q9NPF0	CD320_HUMAN	8D6 antigen isoform 1 precursor	75	Extracellular (Potential).|LDL-receptor class A 1.				regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity				0						AAGTCCCTGTCGCAGCGCCAG	0.662													G	8369960	C	G	8369960	3	3	54	1	0	0	0	0	1	0	0	0	3004	884	31	5	641	5	CD320	19	8369960	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08		8369960	50759023	153	41323											
KRI1	65095	broad.mit.edu	37	chr19	10665849	10665849	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgcttgtcccgcagctcCtcctgctctgacctgcagac	9	19	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr19:10665849C>T	uc002moy.1	-	18	1722	c.1713G>A	c.(1711-1713)GAG>GAA	p.E571E	KRI1_uc002mow.1_Silent_p.E190E|KRI1_uc002mox.1_Silent_p.E567E	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	571										ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCCGCAGCTCCTCCTGCTCTG	0.527													T	10665849	C	T	10665849	2	4	54	1	0	0	0	0	0	0	0	1	8444	680	24	4		4	KRI1	19	10665849	Silent	SNP	C	TCGA-BR-7723-01A-11D-2053-08	2295889	10665849	48463134	154	41324											
ZNF682	91120	broad.mit.edu	37	chr19	20117991	20117991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaagtgtaaatcctcaagtCcacagcttccatatcttctc	4	12	3	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr19:20117991C>T	uc002noq.2	-	4	443	c.320G>A	c.(319-321)GGA>GAA	p.G107E	ZNF682_uc002noo.2_Missense_Mutation_p.G75E|ZNF682_uc002nop.2_Missense_Mutation_p.G75E|ZNF682_uc010eck.2_Missense_Mutation_p.G31E	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						ATCCTCAAGTCCACAGCTTCC	0.373													T	20117991	C	T	20117991	3	4	54	1	0	0	0	0	1	0	0	0	18086	855	30	4	1180	4	ZNF682	19	20117991	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08	9452142	20117991	39010992	155	41325											
ZNF345	25850	broad.mit.edu	37	chr19	37368345	37368345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaaaccttatgaatgtAtagattgtggtaaagccttt	10	4	0	3			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr19:37368345A>G	uc002oex.2	+	3	991	c.613A>G	c.(613-615)ATA>GTA	p.I205V	ZNF345_uc002oey.3_Missense_Mutation_p.I205V|ZNF345_uc002oez.2_Intron	NM_003419	NP_003410	Q14585	ZN345_HUMAN	zinc finger protein 345	205	C2H2-type 6.				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTATGAATGTATAGATTGTGG	0.423													G	37368345	A	G	37368345	3	3	54	1	0	0	0	0	1	0	0	0	17856	449	16	3	615	3	ZNF345	19	37368345	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	17250354	37368345	21760638	156	41326											
C19orf33	64073	broad.mit.edu	37	chr19	38795285	38795285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggacaccacagctcttccGactccagcagcagctccagc	8	17	1	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr19:38795285G>A	uc002ohu.1	+	3	258	c.160G>A	c.(160-162)GAC>AAC	p.D54N	YIF1B_uc002ohw.2_3'UTR|YIF1B_uc002ohx.2_3'UTR|YIF1B_uc010xtx.1_3'UTR|YIF1B_uc010xty.1_3'UTR|YIF1B_uc002oia.2_3'UTR|YIF1B_uc002ohy.2_3'UTR|YIF1B_uc002ohz.2_3'UTR|C19orf33_uc002ohv.1_Silent_p.P73P	NM_033520	NP_277055	Q9GZP8	IMUP_HUMAN	HAI-2 related small protein	54						nucleus					0	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGCTCTTCCGACTCCAGCAG	0.662													A	38795285	G	A	38795285	3	1	54	1	0	0	0	0	1	0	0	0	1919	1058	37	1	170	1	C19orf33	19	38795285	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	1426940	38795285	20333698	157	41327											
RYR1	6261	broad.mit.edu	37	chr19	38991278	38991278	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcaagggtgaggccctgcgGatccgcgccatcctccgctc	14	16	0	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr19:38991278G>A	uc002oit.2	+	46	7486	c.7356G>A	c.(7354-7356)CGG>CGA	p.R2452R	RYR1_uc002oiu.2_Silent_p.R2452R|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2452	Cytoplasmic.|6 X approximate repeats.		R -> W (in MHS1).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGCCCTGCGGATCCGCGCCA	0.642													A	38991278	G	A	38991278	2	1	54	1	0	0	0	0	0	0	0	1	13768	1161	41	4		4	RYR1	19	38991278	Silent	SNP	G	TCGA-BR-7723-01A-11D-2053-08	195993	38991278	20137705	158	41328											
PPP1R13L	10848	broad.mit.edu	37	chr19	45899878	45899878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgaaggcggacgctggcgCgtcgtaggctgtggcagggg	20	11	0	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr19:45899878C>T	uc002pbn.2	-	4	714	c.637G>A	c.(637-639)GCG>ACG	p.A213T	PPP1R13L_uc002pbo.2_Missense_Mutation_p.A213T|PPP1R13L_uc002pbp.2_Missense_Mutation_p.A213T	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	213	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GACGCTGGCGCGTCGTAGGCT	0.786													T	45899878	C	T	45899878	3	4	54	1	0	0	0	0	1	0	0	0	12358	768	27	1	1889	1	PPP1R13L	19	45899878	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08	6908600	45899878	13229105	159	41329											
CD33	945	broad.mit.edu	37	chr19	51728508	51728508	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatccaaatttctggctgcaAgtgcaggagtcagtgacggt	13	8	2	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr19:51728508A>T	uc002pwa.2	+	2	112	c.72A>T	c.(70-72)CAA>CAT	p.Q24H	CD33_uc010eos.1_Missense_Mutation_p.Q24H|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor	24	Extracellular (Potential).|Ig-like V-type.				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)	TCTGGCTGCAAGTGCAGGAGT	0.592													T	51728508	A	T	51728508	3	4	54	1	0	0	0	0	1	0	0	0	3005	69	3	5	78	5	CD33	19	51728508	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	5828630	51728508	7400475	160	41330											
ZNF528	84436	broad.mit.edu	37	chr19	52918410	52918410	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attgggaagtaatgcaggaaAcaagccttgtaaaaatcaac	9	6	1	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr19:52918410A>T	uc002pzh.2	+	7	731	c.305A>T	c.(304-306)AAC>ATC	p.N102I	ZNF528_uc002pzi.2_5'UTR	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AATGCAGGAAACAAGCCTTGT	0.373													T	52918410	A	T	52918410	3	4	54	1	0	0	0	0	1	0	0	0	17966	43	2	5	319	5	ZNF528	19	52918410	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	1189902	52918410	6210573	161	41331											
PRKCG	5582	broad.mit.edu	37	chr19	54407962	54407962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aactgtcacctaccccaagtCgctttcccgggaagccgtgg	10	15	1	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr19:54407962C>T	uc002qcq.1	+	16	2012	c.1730C>T	c.(1729-1731)TCG>TTG	p.S577L	PRKCG_uc010yeg.1_Missense_Mutation_p.S577L|PRKCG_uc010yeh.1_Intron	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	577	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TACCCCAAGTCGCTTTCCCGG	0.562													T	54407962	C	T	54407962	3	4	54	1	0	0	0	0	1	0	0	0	12512	893	31	1	1792	1	PRKCG	19	54407962	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08	1489552	54407962	4721021	162	41332											
LILRB5	10990	broad.mit.edu	37	chr19	54755967	54755967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtgtccttcacggcagCatctgctgggccagagcaag	13	12	2	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr19:54755967C>T	uc002qex.2	-	12	1687	c.1576G>A	c.(1576-1578)GCT>ACT	p.A526T	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.A518T|LILRB5_uc002qey.2_Missense_Mutation_p.A527T|LILRB5_uc002qez.2_Missense_Mutation_p.A427T|LILRB5_uc002qfa.1_3'UTR	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	526	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTCACGGCAGCATCTGCTGGG	0.637													T	54755967	C	T	54755967	3	4	54	1	0	0	0	0	1	0	0	0	8794	710	25	2	204	2	LILRB5	19	54755967	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08	348005	54755967	4373016	163	41333											
ZFP28	140612	broad.mit.edu	37	chr19	57060356	57060356	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtggaagatcaaggagTtacctctcaagaaggacttc	11	8	2	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr19:57060356T>G	uc002qnj.2	+	5	624	c.553T>G	c.(553-555)TTA>GTA	p.L185V	ZFP28_uc002qni.2_Missense_Mutation_p.L185V|uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	zinc finger protein 28	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GATCAAGGAGTTACCTCTCAA	0.398													G	57060356	T	G	57060356	3	3	54	1	0	0	0	0	1	0	0	0	17639	1722	60	5	571	5	ZFP28	19	57060356	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	2304389	57060356	2068627	164	41334											
ZNF211	10520	broad.mit.edu	37	chr19	58152621	58152621	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatcctcactagagaaggacTttttgagtgcagtaaatgtg	10	6	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr19:58152621T>A	uc002qpq.2	+	3	947	c.767T>A	c.(766-768)CTT>CAT	p.L256H	ZNF211_uc010yhb.1_Missense_Mutation_p.L260H|ZNF211_uc002qpp.2_Missense_Mutation_p.L269H|ZNF211_uc002qpr.2_Missense_Mutation_p.L320H|ZNF211_uc002qps.2_Missense_Mutation_p.L321H|ZNF211_uc002qpt.2_Missense_Mutation_p.L268H|ZNF211_uc010yhc.1_Missense_Mutation_p.L268H|ZNF211_uc010yhd.1_Missense_Mutation_p.L195H|ZNF211_uc010yhe.1_Missense_Mutation_p.L247H	NM_198855	NP_942152	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 2	256						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAGAAGGACTTTTTGAGTGC	0.428													A	58152621	T	A	58152621	3	1	54	1	0	0	0	0	1	0	0	0	17764	1609	56	5	820	5	ZNF211	19	58152621	Missense_Mutation	SNP	T	TCGA-BR-7723-01A-11D-2053-08	1092265	58152621	976362	165	41335											
ZSCAN4	201516	broad.mit.edu	37	chr19	58189377	58189377	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaaacaagtgaatgcccaAaccacaagagaagcaaacat	6	10	0	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr19:58189377A>C	uc002qpu.2	+	4	1189	c.492A>C	c.(490-492)CAA>CAC	p.Q164H		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	164					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGAATGCCCAAACCACAAGAG	0.468													C	58189377	A	C	58189377	3	2	54	1	0	0	0	0	1	0	0	0	18234	11	1	5	498	5	ZSCAN4	19	58189377	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	36756	58189377	939606	166	41336											
NINL	22981	broad.mit.edu	37	chr20	25478911	25478911	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggacggcactgtccactgtCatgagctcgttgtcaagggc	13	11	2	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr20:25478911C>T	uc002wux.1	-	9	1178	c.1104G>A	c.(1102-1104)ATG>ATA	p.M368I	NINL_uc010gdn.1_Missense_Mutation_p.M368I|NINL_uc010gdo.1_Missense_Mutation_p.M151I|NINL_uc010ztf.1_Missense_Mutation_p.M384I	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	368					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						TGTCCACTGTCATGAGCTCGT	0.612													T	25478911	C	T	25478911	3	4	54	1	0	0	0	0	1	0	0	0	10420	826	29	4	3108	4	NINL	20	25478911	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08		25478911	37546609	167	41337											
DNMT3B	1789	broad.mit.edu	37	chr20	31388003	31388003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcataaaggtaggaaagtacGtcgcttctgaagtgtgtgag	14	5	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr20:31388003G>A	uc002wyc.2	+	17	2125	c.1804G>A	c.(1804-1806)GTC>ATC	p.V602I	DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Missense_Mutation_p.V582I|DNMT3B_uc002wye.2_Missense_Mutation_p.V582I|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.V540I|DNMT3B_uc010zua.1_Missense_Mutation_p.V506I|DNMT3B_uc002wyf.2_Missense_Mutation_p.V594I|DNMT3B_uc002wyg.2_Missense_Mutation_p.V301I|DNMT3B_uc010geg.2_5'Flank|DNMT3B_uc010geh.2_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	602					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5						AGGAAAGTACGTCGCTTCTGA	0.483													A	31388003	G	A	31388003	3	1	54	1	0	0	0	0	1	0	0	0	4677	1145	40	1	1906	1	DNMT3B	20	31388003	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	5909092	31388003	31637517	168	41338											
KCNK15	60598	broad.mit.edu	37	chr20	43374604	43374604	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctgtgcaccctgtgttAcctgctggtgggcgctgctg	15	12	0	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr20:43374604A>G	uc002xmr.2	+	1	117	c.53A>G	c.(52-54)TAC>TGC	p.Y18C		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	potassium family, subfamily K, member 15	18	Helical; (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		Myeloproliferative disorder(115;0.0122)				ACCCTGTGTTACCTGCTGGTG	0.736													G	43374604	A	G	43374604	3	3	54	1	0	0	0	0	1	0	0	0	8062	391	14	3	55	3	KCNK15	20	43374604	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	11986601	43374604	19650916	169	41339											
TSHZ2	128553	broad.mit.edu	37	chr20	51870079	51870079	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagaagaggaggaaataAaagaagaggaggaggaggag	18	0	0	5			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr20:51870079A>C	uc002xwo.2	+	2	1038	c.82A>C	c.(82-84)AAA>CAA	p.K28Q		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	28	Potential.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			ggaggaaataaaagaagagga	0.378													C	51870079	A	C	51870079	3	2	54	1	0	0	0	0	1	0	0	0	16621	15	1	5	88	5	TSHZ2	20	51870079	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	8495475	51870079	11155441	170	41340											
FTCD	10841	broad.mit.edu	37	chr21	47574136	47574136	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccctccaccacgcactcCggcggccccacgaaggtgta	10	20	0	0	rs143451664		TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr21:47574136C>T	uc002zif.2	-	2	209	c.165G>A	c.(163-165)CCG>CCA	p.P55P	FTCD_uc002zig.2_Silent_p.P55P|FTCD_uc002zih.2_Silent_p.P55P|FTCD_uc010gqf.2_Silent_p.P55P|FTCD_uc010gqg.1_5'UTR	NM_006657	NP_006648	O95954	FTCD_HUMAN	formiminotransferase cyclodeaminase	55	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			pancreas(1)|skin(1)	2	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CCACGCACTCCGGCGGCCCCA	0.657													T	47574136	C	T	47574136	2	4	54	1	0	0	0	0	0	0	0	1	6081	639	23	1		1	FTCD	21	47574136	Silent	SNP	C	TCGA-BR-7723-01A-11D-2053-08		47574136	555759	171	41341											
TTLL1	25809	broad.mit.edu	37	chr22	43442565	43442565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgctggacgtgagagaCggggacgcattcacctgtga	16	9	1	3	rs143499869		TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chr22:43442565C>T	uc003bdi.2	-	10	1234	c.993G>A	c.(991-993)CCG>CCA	p.P331P	TTLL1_uc010gzh.2_Silent_p.P302P|TTLL1_uc003bdj.2_Silent_p.P217P|TTLL1_uc003bdh.2_Silent_p.P293P	NM_012263	NP_036395	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	331	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			skin(1)	1		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		ACGTGAGAGACGGGGACGCAT	0.512													T	43442565	C	T	43442565	2	4	54	1	0	0	0	0	0	0	0	1	16719	523	19	1		1	TTLL1	22	43442565	Silent	SNP	C	TCGA-BR-7723-01A-11D-2053-08		43442565	7862001	172	41342											
RAI2	10742	broad.mit.edu	37	chrX	17819536	17819536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgacagggtgggggccCgagagtgccctgggagggaa	21	8	0	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chrX:17819536C>T	uc004cyf.2	-	3	1165	c.595G>A	c.(595-597)GGG>AGG	p.G199R	RAI2_uc004cyg.2_Missense_Mutation_p.G199R|RAI2_uc010nfa.2_Missense_Mutation_p.G199R|RAI2_uc004cyh.3_Missense_Mutation_p.G199R|RAI2_uc011miy.1_Missense_Mutation_p.G149R	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	199					embryo development					ovary(1)|breast(1)	2	Hepatocellular(33;0.183)					GGTGGGGGCCCGAGAGTGCCC	0.647													T	17819536	C	T	17819536	3	4	54	1	0	0	0	0	1	0	0	0	13009	652	23	1	1001	1	RAI2	23	17819536	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08		17819536	137451024	173	41343											
MAGEB18	286514	broad.mit.edu	37	chrX	26157600	26157600	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggtgttgatttgaaggaAgtggatcccatcaggcacta	12	7	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chrX:26157600A>C	uc004dbq.1	+	2	685	c.498A>C	c.(496-498)GAA>GAC	p.E166D		NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	166	MAGE.						protein binding			central_nervous_system(1)	1						ATTTGAAGGAAGTGGATCCCA	0.433													C	26157600	A	C	26157600	3	2	54	1	0	0	0	0	1	0	0	0	9175	69	3	5	500	5	MAGEB18	23	26157600	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	8338064	26157600	129112960	174	41344											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104728346	104728346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaagccattgttccccatgGagaatcagccaagtgttata	8	11	1	1			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chrX:104728346G>A	uc004elz.1	+	6	1495	c.739G>A	c.(739-741)GAG>AAG	p.E247K		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	247	Ig-like C2-type 3.|Extracellular (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						GTTCCCCATGGAGAATCAGCC	0.408													A	104728346	G	A	104728346	3	1	54	1	0	0	0	0	1	0	0	0	7662	1175	41	4	757	4	IL1RAPL2	23	104728346	Missense_Mutation	SNP	G	TCGA-BR-7723-01A-11D-2053-08	78570746	104728346	50542214	175	41345											
ODZ1	10178	broad.mit.edu	37	chrX	124028194	124028194	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacaacaaacaggagagaaTttgaaacctgtaacagtaaa	7	7	1	2			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chrX:124028194T>C	uc004euj.2	-	3	550	c.486A>G	c.(484-486)AAA>AAG	p.K162K	ODZ1_uc011muj.1_Silent_p.K162K|ODZ1_uc010nqy.2_Silent_p.K162K	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	162	Teneurin N-terminal.|Cytoplasmic (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						CAGGAGAGAATTTGAAACCTG	0.393													C	124028194	T	C	124028194	2	2	54	1	0	0	0	0	0	0	0	1	10834	1490	52	3		3	ODZ1	23	124028194	Silent	SNP	T	TCGA-BR-7723-01A-11D-2053-08	19299848	124028194	31242366	176	41346											
ACTRT1	139741	broad.mit.edu	37	chrX	127185978	127185978	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acgctcaatggggtagtgcaAatgtagggcctcatacttgt	12	8	2	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chrX:127185978A>C	uc004eum.2	-	1	405	c.208T>G	c.(208-210)TTG>GTG	p.L70V		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	70						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)|skin(1)	5						GGGTAGTGCAAATGTAGGGCC	0.478													C	127185978	A	C	127185978	3	2	54	1	0	0	0	0	1	0	0	0	218	11	1	5	926	5	ACTRT1	23	127185978	Missense_Mutation	SNP	A	TCGA-BR-7723-01A-11D-2053-08	3157784	127185978	28084582	177	41347											
FLNA	2316	broad.mit.edu	37	chrX	153587984	153587984	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctgctgggcacgggactgCcgtcataggtcacgtccacg	15	13	2	0			TCGA-BR-7723-01A-11D-2053-08	TCGA-BR-7723-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5946cac-08ce-4512-823d-6c2fa6e73150	daa716c5-0804-49e0-88e8-811cf079546d	g.chrX:153587984C>A	uc004fkk.2	-	24	4259	c.4010G>T	c.(4009-4011)GGC>GTC	p.G1337V	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.G1337V	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1337	Filamin 11.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACGGGACTGCCGTCATAGGT	0.706													A	153587984	C	A	153587984	3	1	54	1	0	0	0	0	1	0	0	0	5933	739	26	5	4033	5	FLNA	23	153587984	Missense_Mutation	SNP	C	TCGA-BR-7723-01A-11D-2053-08	26402006	153587984	1682576	178	41348											
B3GALT6	126792	broad.mit.edu	37	chr1	1168142	1168142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggacgacgactccttcgcgCggctggacgcgctgctggcc	15	16	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:1168142C>T	uc001adk.2	+	1	514	c.484C>T	c.(484-486)CGG>TGG	p.R162W	SDF4_uc001adh.3_5'Flank|SDF4_uc001adi.3_5'Flank|SDF4_uc009vjv.2_5'Flank|SDF4_uc009vjw.2_5'Flank	NM_080605	NP_542172	Q96L58	B3GT6_HUMAN	beta-1,3-galactosyltransferase 6	162	Lumenal (Potential).				glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTCCTTCGCGCGGCTGGACGC	0.572													T	1168142	C	T	1168142	3	4	55	1	0	0	0	0	1	0	0	0	1251	759	27	1	486	1	B3GALT6	1	1168142	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08		1168142	248082479	1	41349											
NADK	65220	broad.mit.edu	37	chr1	1686048	1686048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgcgagccgttctcacCcagcccattgtgcacggccg	11	17	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:1686048C>T	uc009vkw.2	-	8	899	c.778G>A	c.(778-780)GGT>AGT	p.G260S	NADK_uc001aic.2_Missense_Mutation_p.G260S|NADK_uc001aid.3_Missense_Mutation_p.G260S|NADK_uc001aie.2_Missense_Mutation_p.G405S|NADK_uc010nyv.1_Missense_Mutation_p.G228S|NADK_uc009vkx.1_Missense_Mutation_p.G138S	NM_023018	NP_075394	O95544	NADK_HUMAN	NAD kinase	260					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CCGTTCTCACCCAGCCCATTG	0.657													T	1686048	C	T	1686048	3	4	55	1	0	0	0	0	1	0	0	0	10137	623	22	4	582	4	NADK	1	1686048	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	517906	1686048	247564573	2	41350											
GABRD	2563	broad.mit.edu	37	chr1	1961598	1961598	+	Frame_Shift_Del	DEL	G	G	-													gcagcccgctcaggaggccaGgggggcatccgtgcccggct							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:1961597_1961597AG>A	uc001aip.2	+	8	1330	c.1235_1235AG>A	c.(1234-1236)cagfs	p.Q412fs		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	412						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCAGGAGGCCAGGGGGGCATC	0.682													-	1961598	G	-	1961598	7	5	55	1	0	1	0	1	0	0	0	0	6169	991	35	0	1270	0	GABRD	1	1961598	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	275550	1961598	247289023	3	41351											
PLCH2	9651	broad.mit.edu	37	chr1	2430252	2430252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagggagcagacccgcGtggtggacgacaacggtgag	18	10	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:2430252G>A	uc001aji.1	+	18	2693	c.2419G>A	c.(2419-2421)GTG>ATG	p.V807M	PLCH2_uc010nyz.1_Missense_Mutation_p.V595M|PLCH2_uc009vle.1_Missense_Mutation_p.V559M|PLCH2_uc001ajj.1_Missense_Mutation_p.V595M|PLCH2_uc001ajk.1_Missense_Mutation_p.V595M|PLCH2_uc001ajl.1_Translation_Start_Site	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	807	C2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GCAGACCCGCGTGGTGGACGA	0.652													A	2430252	G	A	2430252	3	1	55	1	0	0	0	0	1	0	0	0	12038	1145	40	1	2489	1	PLCH2	1	2430252	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	468654	2430252	246820369	4	41352											
TNFRSF14	8764	broad.mit.edu	37	chr1	2493160	2493160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggaccagcagctcccaCtgggtatggtggtttctctc	13	12	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:2493160C>T	uc001ajr.2	+	6	899	c.600C>T	c.(598-600)CAC>CAT	p.H200H	TNFRSF14_uc001ajt.1_3'UTR|TNFRSF14_uc001ajs.2_Intron	NM_003820	NP_003811	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily,	200	Extracellular (Potential).				immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		GCAGCTCCCACTGGGTATGGT	0.597			Mis|N|F		follicular lymphoma								T	2493160	C	T	2493160	2	4	55	1	0	0	0	0	0	0	0	1	16286	564	20	4		4	TNFRSF14	1	2493160	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	62908	2493160	246757461	5	41353											
ACTRT2	140625	broad.mit.edu	37	chr1	2939331	2939331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagcagatgtgggtcaccGccgcagacttcaaggagttt	12	10	3	2	rs149188311		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:2939331G>A	uc001ajz.2	+	1	1286	c.1081G>A	c.(1081-1083)GCC>ACC	p.A361T		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	361						cytoplasm|cytoskeleton					0	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GTGGGTCACCGCCGCAGACTT	0.607													A	2939331	G	A	2939331	3	1	55	1	0	0	0	0	1	0	0	0	219	1087	38	1	1083	1	ACTRT2	1	2939331	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	446171	2939331	246311290	6	41354											
PRDM16	63976	broad.mit.edu	37	chr1	3319366	3319366	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgcagaggagcccacgTtccgctgtgacgagtgtgac	13	12	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:3319366T>C	uc001akf.2	+	6	768	c.688T>C	c.(688-690)TTC>CTC	p.F230L	PRDM16_uc001akc.2_Missense_Mutation_p.F230L|PRDM16_uc001akd.2_Missense_Mutation_p.F230L|PRDM16_uc001ake.2_Missense_Mutation_p.F230L|PRDM16_uc009vlh.2_5'UTR	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	230	C2H2-type 1; atypical.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGAGCCCACGTTCCGCTGTGA	0.622			T	EVI1	MDS|AML								C	3319366	T	C	3319366	3	2	55	1	0	0	0	0	1	0	0	0	12457	1725	60	3	710	3	PRDM16	1	3319366	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	380035	3319366	245931255	7	41355											
MEGF6	1953	broad.mit.edu	37	chr1	3425195	3425195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggaggcaggtccctccGttcctgcagtcatcacaggt	11	15	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:3425195G>A	uc001akl.2	-	13	1814	c.1587C>T	c.(1585-1587)AAC>AAT	p.N529N	MEGF6_uc001akk.2_Silent_p.N424N	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	529	EGF-like 9.					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		AGGTCCCTCCGTTCCTGCAGT	0.637													A	3425195	G	A	3425195	2	1	55	1	0	0	0	0	0	0	0	1	9462	1136	40	1		1	MEGF6	1	3425195	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	105829	3425195	245825426	8	41356											
MEGF6	1953	broad.mit.edu	37	chr1	3425664	3425664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctctgtgagcgtgtgttcGccccgcaactctgcctcttc	9	15	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:3425664G>A	uc001akl.2	-	12	1730	c.1503C>T	c.(1501-1503)GGC>GGT	p.G501G	MEGF6_uc001akk.2_Silent_p.G396G	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	501						extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCGTGTGTTCGCCCCGCAACT	0.692													A	3425664	G	A	3425664	2	1	55	1	0	0	0	0	0	0	0	1	9462	1074	38	1		1	MEGF6	1	3425664	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	469	3425664	245824957	9	41357											
CHD5	26038	broad.mit.edu	37	chr1	6184642	6184642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctggagaggccctcccGgggcacgccgtctgcgaagg	16	15	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:6184642G>A	uc001amb.1	-	30	4574	c.4474C>T	c.(4474-4476)CGG>TGG	p.R1492W	CHD5_uc001alz.1_Missense_Mutation_p.R349W|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_Intron	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1492					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGGCCCTCCCGGGGCACGCCG	0.647													A	6184642	G	A	6184642	3	1	55	1	0	0	0	0	1	0	0	0	3328	1115	39	1	1438	1	CHD5	1	6184642	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2758978	6184642	243065979	10	41358											
CAMTA1	23261	broad.mit.edu	37	chr1	6885240	6885241	+	Frame_Shift_Ins	INS	-	-	A													cgaaatgttcaagtttaccaINSaaagagaggcaccgctggaa							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:6885239_6885240C>CA	uc001aoi.3	+	2	410_411	c.203_204C>CA	c.(202-204)ccafs	p.P68fs	CAMTA1_uc021ofq.1_Frame_Shift_Ins_p.P68fs|CAMTA1_uc021ofr.1_Non-coding_Transcript|CAMTA1_uc001aoh.3_Frame_Shift_Ins_p.P68fs	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCAAGTTTACCAAAAGAGAGGC	0.347			T	WWTR1	epitheliod hemangioendothelioma								A	6885241	-	A	6885240	7	5	55	1	0	1	1	0	0	0	0	0	2613	117	5	0	214	0	CAMTA1	1	6885240	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	700598	6885240	242365381	11	41359											
CASZ1	54897	broad.mit.edu	37	chr1	10713893	10713893	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggactgctggctggtaggggAggcgctcaggctggagttct	19	8	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:10713893A>G	uc001aro.2	-	11	2541	c.2221T>C	c.(2221-2223)TCC>CCC	p.S741P	CASZ1_uc001arp.1_Missense_Mutation_p.S741P|CASZ1_uc009vmx.2_Missense_Mutation_p.S765P	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	741					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CTGGTAGGGGAGGCGCTCAGG	0.662													G	10713893	A	G	10713893	3	3	55	1	0	0	0	0	1	0	0	0	2685	304	11	3	3106	3	CASZ1	1	10713893	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	3828653	10713893	238536728	12	41360											
VPS13D	55187	broad.mit.edu	37	chr1	12409351	12409351	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggctcccattcattggacCaatgtagtgaagactgcaga	10	9	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:12409351C>A	uc001atv.2	+	46	9492	c.9351C>A	c.(9349-9351)ACC>ACA	p.T3117T	VPS13D_uc001atw.2_Silent_p.T3092T|VPS13D_uc001atx.2_Silent_p.T2304T	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3116					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTCATTGGACCAATGTAGTGA	0.473													A	12409351	C	A	12409351	2	1	55	1	0	0	0	0	0	0	0	1	17189	581	21	5		5	VPS13D	1	12409351	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1695458	12409351	236841270	13	41361											
AADACL3	126767	broad.mit.edu	37	chr1	12776289	12776289	+	Translation_Start_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcacatccctgcagcggTtggccaccctgtgaaactga	11	13	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:12776289T>A	uc009vnn.1	+	1	172	c.-61T>A	c.(-63--59)GGTTG>GGATG		AADACL3_uc001aug.1_Translation_Start_Site	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3 isoform 1								hydrolase activity				0	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCAGCGGTTGGCCACCCT	0.527													A	12776289	T	A	12776289	1	1	55	1	0	0	0	0	0	0	0	0	12	1740	60	5		5	AADACL3	1	12776289	Translation_Start_Site	SNP	T	TCGA-BR-7851-01A-11D-2201-08	366938	12776289	236474332	14	41362											
FBLIM1	54751	broad.mit.edu	37	chr1	16101262	16101262	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgccctgggcagccagaaCgaggtgtactgcctggacga	14	11	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:16101262C>T	uc001axd.1	+	8	1304	c.861C>T	c.(859-861)AAC>AAT	p.N287N	FBLIM1_uc001axe.1_Silent_p.N287N|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Silent_p.N287N|FBLIM1_uc001axh.1_Silent_p.N190N|FBLIM1_uc001axi.1_Silent_p.N190N	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	filamin-binding LIM protein-1 isoform a	287	PLEKHC1-binding.|LIM zinc-binding 2.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			skin(1)	1		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GCAGCCAGAACGAGGTGTACT	0.627													T	16101262	C	T	16101262	2	4	55	1	0	0	0	0	0	0	0	1	5697	535	19	1		1	FBLIM1	1	16101262	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3324973	16101262	233149359	15	41363											
SPEN	23013	broad.mit.edu	37	chr1	16235876	16235876	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatcagttcagtctgcagcAgtccctgcacccacttccca	7	17	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:16235876A>C	uc001axk.1	+	4	1146	c.942A>C	c.(940-942)GCA>GCC	p.A314A	SPEN_uc010obp.1_Silent_p.A273A	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	314	Ser-rich.|By similarity.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGTCTGCAGCAGTCCCTGCAC	0.458													C	16235876	A	C	16235876	2	2	55	1	0	0	0	0	0	0	0	1	15037	175	7	5		5	SPEN	1	16235876	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	134614	16235876	233014745	16	41364											
SPEN	23013	broad.mit.edu	37	chr1	16258928	16258928	+	Frame_Shift_Del	DEL	A	A	-													cccctgttgaagttgtagagAaaaaaccggcccctgaaaaa							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:16258927_16258927GA>G	uc001axk.1	+	10	6396	c.6192_6192GA>G	c.(6190-6192)gagfs	p.E2064fs	SPEN_uc010obp.1_Frame_Shift_Del_p.E2023fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2064					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGTTGTAGAGAAAAAACCGG	0.478													-	16258928	A	-	16258928	7	5	55	1	0	1	0	1	0	0	0	0	15037	247	9	0	6235	0	SPEN	1	16258928	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	23052	16258928	232991693	17	41365											
NBPF1	55672	broad.mit.edu	37	chr1	16893738	16893738	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaaggcacttctgtagggCtggcatgagtcagtcagttc	12	8	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:16893738C>T	uc009vos.1	-	26	3888	c.3000G>A	c.(2998-3000)CAG>CAA	p.Q1000Q	NBPF1_uc009vot.1_Silent_p.Q383Q|NBPF1_uc001ayz.1_Silent_p.Q383Q|NBPF1_uc010oce.1_Silent_p.Q654Q	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	1000	NBPF 6.					cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTCTGTAGGGCTGGCATGAGT	0.478													T	16893738	C	T	16893738	2	4	55	1	0	0	0	0	0	0	0	1	10192	796	28	2		2	NBPF1	1	16893738	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	634810	16893738	232356883	18	41366											
CROCC	9696	broad.mit.edu	37	chr1	17297237	17297237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctggagctggcagaggCgcagaggcagatccagcagc	17	10	0	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:17297237C>T	uc001azt.2	+	35	5828	c.5759C>T	c.(5758-5760)GCG>GTG	p.A1920V	CROCC_uc001azu.2_Missense_Mutation_p.A1223V|CROCC_uc001azv.2_Missense_Mutation_p.A256V	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	1920					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTGGCAGAGGCGCAGAGGCAG	0.637													T	17297237	C	T	17297237	3	4	55	1	0	0	0	0	1	0	0	0	3893	768	27	1	5897	1	CROCC	1	17297237	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	403499	17297237	231953384	19	41367											
PADI4	23569	broad.mit.edu	37	chr1	17634769	17634769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcagcccacccatgccGtgtgtgtgctgggcaccttg	13	14	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:17634769G>A	uc001baj.2	+	1	80	c.52G>A	c.(52-54)GTG>ATG	p.V18M	PADI4_uc009vpc.2_Missense_Mutation_p.V18M	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	18					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CACCCATGCCGTGTGTGTGCT	0.617													A	17634769	G	A	17634769	3	1	55	1	0	0	0	0	1	0	0	0	11380	1145	40	1	54	1	PADI4	1	17634769	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	337532	17634769	231615852	20	41368											
UBR4	23352	broad.mit.edu	37	chr1	19449429	19449430	+	Frame_Shift_Ins	INS	-	-	A													ctagcagcttcttgatcccaINScgcacgtgagagtccagggt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:19449428_19449429C>CA	uc001bbi.3	-	65	9718_9719	c.9714_9715G>TG	c.(9712-9717)cgtgggfs	p.R3238fs	UBR4_uc001bbk.1_Frame_Shift_Ins_p.R885fs	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3238					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.R3238L(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTCTTGATCCCACGCACGTGAG	0.55													A	19449430	-	A	19449429	7	5	55	1	0	1	1	0	0	0	0	0	16901	146	6	0	6001	0	UBR4	1	19449429	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	1814660	19449429	229801192	21	41369											
PLA2G2E	30814	broad.mit.edu	37	chr1	20246820	20246820	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagcagggcggggtgggccCggtgcacagcttgttgggat	19	9	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:20246820C>A	uc001bct.1	-	4	467	c.409G>T	c.(409-411)GGG>TGG	p.G137W		NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE precursor	137					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity				0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGTGGGCCCGGTGCACAGC	0.657													A	20246820	C	A	20246820	3	1	55	1	0	0	0	0	1	0	0	0	11998	652	23	5	23	5	PLA2G2E	1	20246820	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	797391	20246820	229003801	22	41370											
MUL1	79594	broad.mit.edu	37	chr1	20827268	20827268	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaaggcgcggtagcacTcggtgcaggaacaaacgtgc	15	11	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:20827268T>C	uc001bdi.3	-	4	1131	c.974A>G	c.(973-975)GAG>GGG	p.E325G		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	mitochondrial ubiquitin ligase activator of NFKB	325	Cytoplasmic (Potential).|RING-type.				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GCGGTAGCACTCGGTGCAGGA	0.572													C	20827268	T	C	20827268	3	2	55	1	0	0	0	0	1	0	0	0	9984	1551	54	3	88	3	MUL1	1	20827268	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	580448	20827268	228423353	23	41371											
ECE1	1889	broad.mit.edu	37	chr1	21605716	21605716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgcccagtgctgccaagCaggccaccagtcctgccgcc	12	17	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:21605716C>T	uc001bek.2	-	3	323	c.248G>A	c.(247-249)TGC>TAC	p.C83Y	ECE1_uc001bem.2_Missense_Mutation_p.C67Y|ECE1_uc001bej.2_Missense_Mutation_p.C71Y|ECE1_uc001bei.2_Missense_Mutation_p.C80Y|ECE1_uc010odl.1_Missense_Mutation_p.C83Y|ECE1_uc009vqa.1_Missense_Mutation_p.C83Y|uc001ben.1_5'Flank	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	83	Helical; Signal-anchor for type II membrane protein; (Potential).				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			ovary(2)|skin(1)	3		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TGCTGCCAAGCAGGCCACCAG	0.652													T	21605716	C	T	21605716	3	4	55	1	0	0	0	0	1	0	0	0	4889	710	25	2	2132	2	ECE1	1	21605716	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	778448	21605716	227644905	24	41372											
USP48	84196	broad.mit.edu	37	chr1	22048163	22048163	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctttactgctgctttcagCagattattaacagttttata	5	9	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:22048163C>T	uc001bfb.2	-	13	1981	c.1743G>A	c.(1741-1743)CTG>CTA	p.L581L	USP48_uc001bfa.2_Silent_p.L120L|USP48_uc010odq.1_Silent_p.L580L|USP48_uc009vqc.2_Silent_p.L515L|USP48_uc001bfc.2_Silent_p.L581L|USP48_uc001bfe.1_Silent_p.L580L	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	581	DUSP 2.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CTGCTTTCAGCAGATTATTAA	0.358													T	22048163	C	T	22048163	2	4	55	1	0	0	0	0	0	0	0	1	17076	697	25	2		2	USP48	1	22048163	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	442447	22048163	227202458	25	41373											
HSPG2	3339	broad.mit.edu	37	chr1	22157779	22157779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggttgaggtcatggaagaCgatctcctcgccctggatgc	14	10	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:22157779C>T	uc001bfj.2	-	84	11531	c.11491G>A	c.(11491-11493)GTC>ATC	p.V3831I	HSPG2_uc001bfi.2_5'Flank|HSPG2_uc009vqd.2_Missense_Mutation_p.V3832I	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3831	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TCATGGAAGACGATCTCCTCG	0.677													T	22157779	C	T	22157779	3	4	55	1	0	0	0	0	1	0	0	0	7430	536	19	1	1740	1	HSPG2	1	22157779	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	109616	22157779	227092842	26	41374											
MYOM3	127294	broad.mit.edu	37	chr1	24383880	24383880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctcttcagctccttgggctCgtccccgtgcttgaacacac	9	16	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:24383880C>T	uc001bin.3	-	37	4451	c.4288G>A	c.(4288-4290)GAG>AAG	p.E1430K	MYOM3_uc001bil.3_Missense_Mutation_p.E323K|MYOM3_uc001bim.3_Missense_Mutation_p.E1087K	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	1430										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCCTTGGGCTCGTCCCCGTGC	0.577													T	24383880	C	T	24383880	3	4	55	1	0	0	0	0	1	0	0	0	10093	893	31	1	29	1	MYOM3	1	24383880	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2226101	24383880	224866741	27	41375											
SEPN1	57190	broad.mit.edu	37	chr1	26131655	26131655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaactcccgcggccagctgCgaggaggaggagttgccccc	14	15	1	0	rs141295085	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:26131655C>T	uc010oer.1	+	6	481	c.426C>T	c.(424-426)TGC>TGT	p.C142C	SEPN1_uc010oes.1_Silent_p.C108C	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	selenoprotein N, 1 isoform 1 precursor	142						endoplasmic reticulum membrane|extracellular region	protein binding			ovary(2)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCCAGCTGCGAGGAGGAGG	0.597													T	26131655	C	T	26131655	2	4	55	1	0	0	0	0	0	0	0	1	14056	776	27	1		1	SEPN1	1	26131655	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1747775	26131655	223118966	28	41376											
UBXN11	91544	broad.mit.edu	37	chr1	26609150	26609150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacccacctggcctgcgCtagcagagctcgcacgtccc	10	19	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:26609150C>T	uc001blw.2	-	15	1555	c.1282G>A	c.(1282-1284)GCG>ACG	p.A428T	UBXN11_uc001blz.1_Missense_Mutation_p.A395T|UBXN11_uc001blv.2_Missense_Mutation_p.A390T|UBXN11_uc001bly.2_Missense_Mutation_p.A308T|UBXN11_uc001blx.2_Missense_Mutation_p.A186T|UBXN11_uc001bma.2_Missense_Mutation_p.A395T|UBXN11_uc001bmb.1_Missense_Mutation_p.A428T	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	socius isoform 2	428	UBX.					cytoplasm|cytoskeleton				ovary(1)	1						CTGGCCTGCGCTAGCAGAGCT	0.637													T	26609150	C	T	26609150	3	4	55	1	0	0	0	0	1	0	0	0	16910	797	28	2	288	2	UBXN11	1	26609150	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	477495	26609150	222641471	29	41377											
ARID1A	8289	broad.mit.edu	37	chr1	27101099	27101099	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttccattccagtttggcCgagaccgtgtctctgcaccc	8	14	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:27101099C>T	uc001bmv.1	+	18	4754	c.4381C>T	c.(4381-4383)CGA>TGA	p.R1461*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.R1460*|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Nonsense_Mutation_p.R1078*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.R307*|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1461					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAGTTTGGCCGAGACCGTGT	0.582			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								T	27101099	C	T	27101099	4	4	55	1	0	0	0	0	0	1	0	0	913	644	23	1	4451	1	ARID1A	1	27101099	Nonsense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	491949	27101099	222149522	30	41378											
ARID1A	8289	broad.mit.edu	37	chr1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-													tgctgcactggcggattggtGggggggacaccactgagcat							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACA	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27105931	G	-	27105931	7	5	55	1	0	1	0	1	0	0	0	0	913	1348	47	0	5620	0	ARID1A	1	27105931	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	4832	27105931	222144690	31	41379											
ARID1A	8289	broad.mit.edu	37	chr1	27107205	27107205	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgaactcattggtttcAcaagtcatttgtgatgtact	8	6	3	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:27107205A>G	uc001bmv.1	+	20	7189	c.6816A>G	c.(6814-6816)TCA>TCG	p.S2272S	ARID1A_uc001bmu.1_Silent_p.S2055S|ARID1A_uc001bmx.1_Silent_p.S1118S|ARID1A_uc009vsm.1_Silent_p.S600S|ARID1A_uc009vsn.1_Silent_p.S514S	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2272					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATTGGTTTCACAAGTCATTT	0.502			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								G	27107205	A	G	27107205	2	3	55	1	0	0	0	0	0	0	0	1	913	146	6	3		3	ARID1A	1	27107205	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1274	27107205	222143416	32	41380											
NR0B2	8431	broad.mit.edu	37	chr1	27238427	27238427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccccaagcaggctggtcGgaatggacttgagggtggag	18	8	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:27238427G>A	uc001bnf.2	-	2	819	c.683C>T	c.(682-684)CCG>CTG	p.P228L		NM_021969	NP_068804	Q15466	NR0B2_HUMAN	short heterodimer partner	228	Ligand-binding (By similarity).				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity				0		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CAGGCTGGTCGGAATGGACTT	0.597													A	27238427	G	A	27238427	3	1	55	1	0	0	0	0	1	0	0	0	10614	1116	39	1	94	1	NR0B2	1	27238427	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	131222	27238427	222012194	33	41381											
STX12	23673	broad.mit.edu	37	chr1	28099854	28099854	+	Frame_Shift_Del	DEL	G	G	-													ttagacatgtaccggaacccGgggccctcggggccccagct							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:28099854delG	uc001bou.3	+	1	161	c.36delG	c.(34-36)CCGfs	p.P12fs		NM_177424	NP_803173	Q86Y82	STX12_HUMAN	syntaxin 12	12	Cytoplasmic (Potential).				cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity			breast(1)|central_nervous_system(1)	2		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		ACCGGAACCCGGGGCCCTCGG	0.652													-	28099854	G	-	28099854	7	5	55	1	0	1	0	1	0	0	0	0	15337	1103	39	0	38	0	STX12	1	28099854	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	861427	28099854	221150767	34	41382											
PTPRU	10076	broad.mit.edu	37	chr1	29650164	29650164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggaggggcacctgctgGtgcggcacttccagttcctg	15	12	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:29650164G>A	uc001bru.2	+	29	4116	c.4006G>A	c.(4006-4008)GTG>ATG	p.V1336M	PTPRU_uc001brv.2_Missense_Mutation_p.V1332M|PTPRU_uc001brw.2_Missense_Mutation_p.V1326M|PTPRU_uc009vtq.2_Missense_Mutation_p.V1330M|PTPRU_uc009vtr.2_Missense_Mutation_p.V1323M|PTPRU_uc001brx.2_Missense_Mutation_p.V62M	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1336	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCACCTGCTGGTGCGGCACTT	0.632													A	29650164	G	A	29650164	3	1	55	1	0	0	0	0	1	0	0	0	12813	1261	44	4	4142	4	PTPRU	1	29650164	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1550310	29650164	219600457	35	41383											
PUM1	9698	broad.mit.edu	37	chr1	31479860	31479860	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgatgttccccaggcactGtctcgccattgatcacccag	8	16	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:31479860G>A	uc001bsi.1	-	4	635	c.522C>T	c.(520-522)GAC>GAT	p.D174D	PUM1_uc001bsg.1_5'Flank|PUM1_uc001bsh.1_Silent_p.D174D|PUM1_uc001bsj.1_Silent_p.D174D|PUM1_uc010oga.1_Intron|PUM1_uc001bsk.1_Silent_p.D210D|PUM1_uc010ogb.1_Intron	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	174					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CCCAGGCACTGTCTCGCCATT	0.428													A	31479860	G	A	31479860	2	1	55	1	0	0	0	0	0	0	0	1	12825	1368	48	4		4	PUM1	1	31479860	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1829696	31479860	217770761	36	41384											
COL16A1	1307	broad.mit.edu	37	chr1	32163529	32163529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacaggcttgccctgctcaGcatccaagcctagaaataca	8	13	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:32163529G>A	uc001btk.1	-	6	1000	c.635C>T	c.(634-636)GCT>GTT	p.A212V	COL16A1_uc001btj.1_Missense_Mutation_p.A41V|COL16A1_uc001btl.3_Missense_Mutation_p.A212V	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	212	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCCCTGCTCAGCATCCAAGCC	0.527													A	32163529	G	A	32163529	3	1	55	1	0	0	0	0	1	0	0	0	3673	971	34	2	4443	2	COL16A1	1	32163529	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	683669	32163529	217087092	37	41385											
TMEM39B	55116	broad.mit.edu	37	chr1	32568108	32568108	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcattgtctatcagctgtActccctaatgtcctctgaaa	6	11	4	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:32568108A>G	uc010ogv.1	+	9	1459	c.1313A>G	c.(1312-1314)TAC>TGC	p.Y438C	TMEM39B_uc001bue.3_Missense_Mutation_p.Y439C|TMEM39B_uc001buf.3_Missense_Mutation_p.Y239C|TMEM39B_uc010ogw.1_Missense_Mutation_p.Y239C	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	438	Helical; (Potential).					integral to membrane					0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TATCAGCTGTACTCCCTAATG	0.562													G	32568108	A	G	32568108	3	3	55	1	0	0	0	0	1	0	0	0	16159	391	14	3	1347	3	TMEM39B	1	32568108	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	404579	32568108	216682513	38	41386											
KIAA1522	57648	broad.mit.edu	37	chr1	33235543	33235543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgcacgggatgccgtaCgcatccccacagtggacggc	14	14	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:33235543C>T	uc001bvv.2	+	6	722	c.586C>T	c.(586-588)CGC>TGC	p.R196C	KIAA1522_uc001bvu.1_Missense_Mutation_p.R255C|KIAA1522_uc010ohm.1_Missense_Mutation_p.R207C|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	196											0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGATGCCGTACGCATCCCCAC	0.721													T	33235543	C	T	33235543	3	4	55	1	0	0	0	0	1	0	0	0	8238	536	19	1	785	1	KIAA1522	1	33235543	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	667435	33235543	216015078	39	41387											
S100PBP	64766	broad.mit.edu	37	chr1	33291708	33291708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttctccagaaatgatgtGctcacgggtgccctctgaac	9	11	3	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:33291708G>A	uc001bvz.2	+	3	285	c.8G>A	c.(7-9)TGC>TAC	p.C3Y	S100PBP_uc001bwa.1_Missense_Mutation_p.C3Y|S100PBP_uc001bwb.1_Missense_Mutation_p.C3Y|S100PBP_uc001bwc.2_Missense_Mutation_p.C3Y|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	3						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GAAATGATGTGCTCACGGGTG	0.438													A	33291708	G	A	33291708	3	1	55	1	0	0	0	0	1	0	0	0	13791	1319	46	2	10	2	S100PBP	1	33291708	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	56165	33291708	215958913	40	41388											
RNF19B	127544	broad.mit.edu	37	chr1	33402698	33402698	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacagctttggtgtctgcaGgggggatcctcttcactgcc	12	12	4	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:33402698G>T	uc010oho.1	-	9	1908	c.1908C>A	c.(1906-1908)CCC>CCA	p.P636P	RNF19B_uc001bwm.3_3'UTR|RNF19B_uc010ohp.1_Silent_p.P635P	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B isoform a	636						integral to membrane	ligase activity|protein binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGTGTCTGCAGGGGGGATCCT	0.557													T	33402698	G	T	33402698	2	4	55	1	0	0	0	0	0	0	0	1	13471	987	35	5		5	RNF19B	1	33402698	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	110990	33402698	215847923	41	41389											
RNF19B	127544	broad.mit.edu	37	chr1	33407887	33407887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgccactggagagaatgcCgccactcagcgtgccccctg	11	16	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:33407887C>T	uc010oho.1	-	7	1579	c.1579G>A	c.(1579-1581)GGC>AGC	p.G527S	RNF19B_uc001bwm.3_Missense_Mutation_p.G526S|RNF19B_uc010ohp.1_Missense_Mutation_p.G526S	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B isoform a	527						integral to membrane	ligase activity|protein binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GAGAGAATGCCGCCACTCAGC	0.458													T	33407887	C	T	33407887	3	4	55	1	0	0	0	0	1	0	0	0	13471	652	23	1	657	1	RNF19B	1	33407887	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	5189	33407887	215842734	42	41390											
GJB3	2707	broad.mit.edu	37	chr1	35250436	35250436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgttcgggcgcatctggCtgtccgtggtgttcgtcttc	14	12	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:35250436C>T	uc001bxx.2	+	2	688	c.73C>T	c.(73-75)CTG>TTG	p.L25L	GJB3_uc001bxy.2_Silent_p.L25L|GJB3_uc001bxz.3_Silent_p.L25L|uc010ohs.1_RNA	NM_024009	NP_076872	O75712	CXB3_HUMAN	connexin 31	25	Helical; (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GCGCATCTGGCTGTCCGTGGT	0.622													T	35250436	C	T	35250436	2	4	55	1	0	0	0	0	0	0	0	1	6409	796	28	2		2	GJB3	1	35250436	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1842549	35250436	214000185	43	41391											
SFPQ	6421	broad.mit.edu	37	chr1	35650166	35650166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtccacccacaggccccGcacctccctgcccaaagcgc	7	23	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:35650166G>A	uc001bys.2	-	10	2108	c.2015C>T	c.(2014-2016)GCG>GTG	p.A672V	SFPQ_uc001byr.2_Intron	NM_005066	NP_005057	P23246	SFPQ_HUMAN	splicing factor proline/glutamine rich	672					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|protein binding|RNA binding		SFPQ/TFE3(6)	kidney(4)|soft_tissue(2)|ovary(1)|skin(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CACAGGCCCCGCACCTCCCTG	0.478			T	TFE3	papillary renal cell								A	35650166	G	A	35650166	3	1	55	1	0	0	0	0	1	0	0	0	14160	1087	38	1	112	1	SFPQ	1	35650166	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	399730	35650166	213600455	44	41392											
ZMYM4	9202	broad.mit.edu	37	chr1	35824656	35824656	+	Frame_Shift_Del	DEL	T	T	-													ttgctggatgaagatgattaTtttttgaactctggggatct							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:35824656delT	uc001byt.2	+	3	296	c.216delT	c.(214-216)TATfs	p.Y72fs	ZMYM4_uc009vuu.2_Frame_Shift_Del_p.Y40fs|ZMYM4_uc001byu.2_Intron|ZMYM4_uc009vuv.2_5'UTR	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	72					multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAGATGATTATTTTTTGAACT	0.383													-	35824656	T	-	35824656	7	5	55	1	0	1	0	1	0	0	0	0	17699	1500	52	0	226	0	ZMYM4	1	35824656	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	174490	35824656	213425965	45	41393											
NCDN	23154	broad.mit.edu	37	chr1	36026428	36026428	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccgtgttgcggggcctcAgtgaggatttccagaaagct	15	9	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:36026428A>G	uc001bza.2	+	4	803	c.676A>G	c.(676-678)AGT>GGT	p.S226G	KIAA0319L_uc010ohw.1_5'Flank|NCDN_uc001bzb.2_Missense_Mutation_p.S226G|NCDN_uc001bzc.2_Missense_Mutation_p.S209G	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	226					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCGGGGCCTCAGTGAGGATTT	0.642													G	36026428	A	G	36026428	3	3	55	1	0	0	0	0	1	0	0	0	10214	188	7	3	686	3	NCDN	1	36026428	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	201772	36026428	213224193	46	41394											
ZC3H12A	80149	broad.mit.edu	37	chr1	37948942	37948942	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgccccctgcctttccAcctcgagagtactggtctga	9	18	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:37948942A>G	uc001cbb.3	+	6	1680	c.1530A>G	c.(1528-1530)CCA>CCG	p.P510P	ZC3H12A_uc001cbc.1_Silent_p.P305P	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	510	Pro-rich.				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGCCTTTCCACCTCGAGAGT	0.672													G	37948942	A	G	37948942	2	3	55	1	0	0	0	0	0	0	0	1	17558	146	6	3		3	ZC3H12A	1	37948942	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1922514	37948942	211301679	47	41395											
C1orf109	54955	broad.mit.edu	37	chr1	38155444	38155444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagggaggacaggagggGctggcagtcccgcagggcac	20	10	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:38155444G>A	uc001cbp.2	-	2	299	c.109C>T	c.(109-111)CCC>TCC	p.P37S	C1orf109_uc010oig.1_Missense_Mutation_p.P100S|C1orf109_uc001cbo.2_Missense_Mutation_p.P99S|C1orf109_uc001cbq.1_Missense_Mutation_p.P37S|CDCA8_uc001cbr.2_5'Flank|CDCA8_uc001cbs.2_5'Flank	NM_017850	NP_060320	Q9NX04	CA109_HUMAN	hypothetical protein LOC54955	37											0		Myeloproliferative disorder(586;0.0393)				GACAGGAGGGGCTGGCAGTCC	0.652													A	38155444	G	A	38155444	3	1	55	1	0	0	0	0	1	0	0	0	1982	1203	42	2	518	2	C1orf109	1	38155444	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	206502	38155444	211095177	48	41396											
GJA9	81025	broad.mit.edu	37	chr1	39341336	39341336	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcctctgagtggagctttAtttagtttccttttctccag	8	9	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:39341336A>G	uc001cct.1	-	2	716	c.435T>C	c.(433-435)AAT>AAC	p.N145N	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	NM_030772	NP_110399	P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	145	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane					0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GTGGAGCTTTATTTAGTTTCC	0.428													G	39341336	A	G	39341336	2	3	55	1	0	0	0	0	0	0	0	1	6406	446	16	3		3	GJA9	1	39341336	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1185892	39341336	209909285	49	41397											
KIAA0754	643314	broad.mit.edu	37	chr1	39877724	39877724	+	Frame_Shift_Del	DEL	A	A	-													agctgatctggattcactggAaaagctggacccaggaggac							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:39877723_39877723GA>G	uc009vvt.1	+	0	2548	c.1786_1786GA>G	c.(1786-1788)gaafs	p.E596fs	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	460										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGATTCACTGGAAAAGCTGGA	0.468													-	39877724	A	-	39877724	7	5	55	1	0	1	0	1	0	0	0	0	8192	246	9	0	1789	0	KIAA0754	1	39877724	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	536388	39877724	209372897	50	41398											
MACF1	23499	broad.mit.edu	37	chr1	39888401	39888401	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctacatgttcatgatacaGgtcgcacaaagaattgcaca	7	10	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:39888401G>T	uc010oiu.1	+	24	11430	c.11299_splice	c.e24-1	p.V3767_splice	MACF1_uc010ois.1_Splice_Site_p.V3265_splice|MACF1_uc001cda.1_Splice_Site_p.V3152_splice|MACF1_uc001cdc.1_Splice_Site_p.V2331_splice	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker						cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCATGATACAGGTCGCACAAA	0.403													T	39888401	G	T	39888401	5	4	55	1	0	0	0	0	0	0	1	0	9144	1014	35	5	16161	5	MACF1	1	39888401	Splice_Site	SNP	G	TCGA-BR-7851-01A-11D-2201-08	10677	39888401	209362220	51	41399											
HIVEP3	59269	broad.mit.edu	37	chr1	42048952	42048952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggatgacaggggctccCggtagaggctggattttggg	19	6	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:42048952C>T	uc001cgz.3	-	4	2730	c.1517G>A	c.(1516-1518)CGG>CAG	p.R506Q	HIVEP3_uc001cha.3_Missense_Mutation_p.R506Q|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	506	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CAGGGGCTCCCGGTAGAGGCT	0.627													T	42048952	C	T	42048952	3	4	55	1	0	0	0	0	1	0	0	0	7188	652	23	1	5727	1	HIVEP3	1	42048952	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2160551	42048952	207201669	52	41400											
HIVEP3	59269	broad.mit.edu	37	chr1	42049693	42049693	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatctccagcccatgtgggTacatctcgccacccatgcct	7	18	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:42049693T>C	uc001cgz.3	-	4	1989	c.776A>G	c.(775-777)TAC>TGC	p.Y259C	HIVEP3_uc001cha.3_Missense_Mutation_p.Y259C|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	259	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCCATGTGGGTACATCTCGCC	0.562													C	42049693	T	C	42049693	3	2	55	1	0	0	0	0	1	0	0	0	7188	1638	57	3	6468	3	HIVEP3	1	42049693	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	741	42049693	207200928	53	41401											
TIE1	7075	broad.mit.edu	37	chr1	43766758	43766758	+	Frame_Shift_Del	DEL	C	C	-													ggagtatggtctggcgggtgCcccctttcttgctccccatc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:43766757_43766757GC>G	uc001ciu.3	+	0	192	c.15_15GC>G	c.(13-15)gtgfs	p.V5fs	TIE1_uc010okd.2_Frame_Shift_Del_p.V5fs|TIE1_uc010oke.2_5'UTR|TIE1_uc009vwq.3_Frame_Shift_Del_p.V5fs|TIE1_uc010oka.2_Frame_Shift_Del_p.V5fs|TIE1_uc010okb.2_Frame_Shift_Del_p.V5fs|TIE1_uc010okc.2_Frame_Shift_Del_p.V5fs	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	5					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCTGGCGGGTGCCCCCTTTCT	0.617													-	43766758	C	-	43766758	7	5	55	1	0	1	0	1	0	0	0	0	15890	739	26	0	18	0	TIE1	1	43766758	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	1717065	43766758	205483863	54	41402											
SLC6A9	6536	broad.mit.edu	37	chr1	44466469	44466469	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggagagacgaagcgccaGcagatctgaaagaagagggg	18	7	1	5			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:44466469G>A	uc001cll.2	-	12	1917	c.1725C>T	c.(1723-1725)TGC>TGT	p.C575C	SLC6A9_uc009vxe.2_Silent_p.C431C|SLC6A9_uc010okm.1_Silent_p.L532L|SLC6A9_uc001clm.2_Silent_p.C521C|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Silent_p.C506C|SLC6A9_uc001cln.2_Silent_p.C502C|SLC6A9_uc010oko.1_Silent_p.C391C|SLC6A9_uc010okp.1_RNA	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	575	Helical; Name=11; (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CGAAGCGCCAGCAGATCTGAA	0.622													A	44466469	G	A	44466469	2	1	55	1	0	0	0	0	0	0	0	1	14691	963	34	2		2	SLC6A9	1	44466469	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	699711	44466469	204784152	55	41403											
KLF17	128209	broad.mit.edu	37	chr1	44595230	44595230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtatgccactgcctgagcGtggtatgagctactgccccc	11	14	0	2	rs147552179		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:44595230G>A	uc001clp.2	+	2	345	c.287G>A	c.(286-288)CGT>CAT	p.R96H	KLF17_uc009vxf.1_Missense_Mutation_p.R59H	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	zinc finger protein 393	96					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					CTGCCTGAGCGTGGTATGAGC	0.567													A	44595230	G	A	44595230	3	1	55	1	0	0	0	0	1	0	0	0	8345	1145	40	1	293	1	KLF17	1	44595230	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	128761	44595230	204655391	56	41404											
RNF220	55182	broad.mit.edu	37	chr1	44878287	44878287	+	Frame_Shift_Del	DEL	C	C	-													gacacagctgccatctagctCccccggttcactaaaggttg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:44878286_44878286TC>T	uc001clv.1	+	1	877	c.517_517TC>T	c.(517-519)tccfs	p.S173fs	RNF220_uc001clw.1_Frame_Shift_Del_p.S173fs	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	173					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GCCATCTAGCTCCCCCGGTTC	0.507													-	44878287	C	-	44878287	7	5	55	1	0	1	0	1	0	0	0	0	13483	855	30	0	520	0	RNF220	1	44878287	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	283057	44878287	204372334	57	41405											
STIL	6491	broad.mit.edu	37	chr1	47716920	47716920	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgcaaactttcaggaaaaAttgtaatgtccccttcattt	6	8	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:47716920A>G	uc001crc.1	-	17	3907	c.3752T>C	c.(3751-3753)ATT>ACT	p.I1251T	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.I1205T|STIL_uc010omo.1_Missense_Mutation_p.I1234T|STIL_uc001crd.1_Missense_Mutation_p.I1252T|STIL_uc001cre.1_Missense_Mutation_p.I1251T	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	1251					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTCAGGAAAAATTGTAATGTC	0.403													G	47716920	A	G	47716920	3	3	55	1	0	0	0	0	1	0	0	0	15281	101	4	3	115	3	STIL	1	47716920	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	2838633	47716920	201533701	58	41406											
ZCCHC11	23318	broad.mit.edu	37	chr1	52961127	52961127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaattttatatctatattaAcatcactacttttcagagca	3	7	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:52961127A>G	uc001ctx.2	-	6	1472	c.1238T>C	c.(1237-1239)GTT>GCT	p.V413A	ZCCHC11_uc001cty.2_Missense_Mutation_p.V413A|ZCCHC11_uc001ctz.2_Missense_Mutation_p.V413A|ZCCHC11_uc009vze.1_Missense_Mutation_p.V413A|ZCCHC11_uc009vzf.1_Missense_Mutation_p.V172A|ZCCHC11_uc001cub.2_Missense_Mutation_p.V413A|ZCCHC11_uc001cuc.2_RNA	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	413					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						ATCTATATTAACATCACTACT	0.318													G	52961127	A	G	52961127	3	3	55	1	0	0	0	0	1	0	0	0	17577	43	2	3	3799	3	ZCCHC11	1	52961127	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	5244207	52961127	196289494	59	41407											
GPX7	2882	broad.mit.edu	37	chr1	53068182	53068182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaaggcggtcaacatccGgggcaaactggtgtcgctgg	14	11	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:53068182G>A	uc001cue.2	+	1	140	c.101G>A	c.(100-102)CGG>CAG	p.R34Q		NM_015696	NP_056511	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7 precursor	34					response to oxidative stress	extracellular region	glutathione peroxidase activity				0					Glutathione(DB00143)	GTCAACATCCGGGGCAAACTG	0.721													A	53068182	G	A	53068182	3	1	55	1	0	0	0	0	1	0	0	0	6745	1116	39	1	103	1	GPX7	1	53068182	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	107055	53068182	196182439	60	41408											
CPT2	1376	broad.mit.edu	37	chr1	53676142	53676142	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagatgggaacattgtgagcCcctcggaaatccaggcacat	11	10	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:53676142C>A	uc001cvb.3	+	4	1311	c.796C>A	c.(796-798)CCC>ACC	p.P266T		NM_000098	NP_000089	P23786	CPT2_HUMAN	carnitine O-palmitoyltransferase precursor	266	Mitochondrial matrix (By similarity).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity				0					L-Carnitine(DB00583)|Perhexiline(DB01074)	CATTGTGAGCCCCTCGGAAAT	0.502													A	53676142	C	A	53676142	3	1	55	1	0	0	0	0	1	0	0	0	3834	623	22	5	810	5	CPT2	1	53676142	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	607960	53676142	195574479	61	41409											
TMEM48	55706	broad.mit.edu	37	chr1	54266463	54266463	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatcagtttctgagtcatAccatttaaaagattcaaaca	5	7	4	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:54266463A>G	uc001cvs.2	-	11	1366	c.1125T>C	c.(1123-1125)GGT>GGC	p.G375G	TMEM48_uc010onu.1_Silent_p.G335G|TMEM48_uc001cvt.2_Silent_p.G252G|TMEM48_uc009vzk.2_RNA|TMEM48_uc010onv.1_Silent_p.G40G	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	transmembrane protein 48	375	Cytoplasmic (Potential).				mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			ovary(1)|pancreas(1)	2						TCTGAGTCATACCATTTAAAA	0.398													G	54266463	A	G	54266463	2	3	55	1	0	0	0	0	0	0	0	1	16169	378	14	3		3	TMEM48	1	54266463	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	590321	54266463	194984158	62	41410											
ACOT11	26027	broad.mit.edu	37	chr1	55058251	55058251	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaatatcaaggccaaggTgaaccgggccttcaactcca	11	11	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:55058251T>C	uc001cxm.1	+	4	426	c.344T>C	c.(343-345)GTG>GCG	p.V115A	ACOT11_uc001cxj.1_5'UTR|ACOT11_uc001cxk.2_Missense_Mutation_p.V81A|ACOT11_uc001cxl.1_Missense_Mutation_p.V115A	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	thioesterase, adipose associated isoform BFIT1	115	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1						AAGGCCAAGGTGAACCGGGCC	0.592													C	55058251	T	C	55058251	3	2	55	1	0	0	0	0	1	0	0	0	149	1696	59	3	358	3	ACOT11	1	55058251	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	791788	55058251	194192370	63	41411											
TTC4	7268	broad.mit.edu	37	chr1	55186845	55186845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttgttaggcaattttcGttctgctctcaatgatgtga	9	6	2	2	rs78775654		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:55186845G>A	uc001cxx.3	+	4	454	c.401G>A	c.(400-402)CGT>CAT	p.R134H	C1orf175_uc001cxq.2_RNA|TTC4_uc001cxw.3_Missense_Mutation_p.R134H|TTC4_uc001cxv.2_Missense_Mutation_p.R145H	NM_004623	NP_004614	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	134	TPR 2.						binding				0						GGCAATTTTCGTTCTGCTCTC	0.308													A	55186845	G	A	55186845	3	1	55	1	0	0	0	0	1	0	0	0	16707	1145	40	1	415	1	TTC4	1	55186845	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	128594	55186845	194063776	64	41412											
USP24	23358	broad.mit.edu	37	chr1	55548945	55548945	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatataaaagtagtccttacCtgattgttttgccgactggc	9	8	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:55548945C>A	uc001cyg.3	-	55	6495	c.6495G>T	c.(6493-6495)CAG>CAT	p.Q2165H		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	2325					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						TAGTCCTTACCTGATTGTTTT	0.423													A	55548945	C	A	55548945	3	1	55	1	0	0	0	0	1	0	0	0	17052	695	24	5	931	5	USP24	1	55548945	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	362100	55548945	193701676	65	41413											
ALG6	29929	broad.mit.edu	37	chr1	63876940	63876940	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacagatggaactttaccaCgccttgccatttttttgctt	6	10	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:63876940C>T	uc010oow.1	+	8	923	c.618C>T	c.(616-618)CAC>CAT	p.H206H	ALG6_uc001daz.2_RNA|ALG6_uc009waj.2_RNA|ALG6_uc010oox.1_Silent_p.H5H	NM_013339	NP_037471	Q9Y672	ALG6_HUMAN	dolichyl pyrophosphate Man9GlcNAc2	206					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity				0						AACTTTACCACGCCTTGCCAT	0.383													T	63876940	C	T	63876940	2	4	55	1	0	0	0	0	0	0	0	1	522	535	19	1		1	ALG6	1	63876940	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	8327995	63876940	185373681	66	41414											
LEPR	3953	broad.mit.edu	37	chr1	66088619	66088619	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctattttgggaagatgttccGaaccccaagaattgttcctg	9	9	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:66088619G>A	uc001dci.2	+	19	2830	c.2628G>A	c.(2626-2628)CCG>CCA	p.P876P	LEPR_uc001dcg.2_Silent_p.P876P|LEPR_uc001dch.2_Silent_p.P876P|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Silent_p.P876P|LEPR_uc001dck.2_Silent_p.P876P	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	876	Box 1 motif.|Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AAGATGTTCCGAACCCCAAGA	0.348													A	66088619	G	A	66088619	2	1	55	1	0	0	0	0	0	0	0	1	8728	1045	37	1		1	LEPR	1	66088619	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2211679	66088619	183162002	67	41415											
SLC44A5	204962	broad.mit.edu	37	chr1	75679397	75679397	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccagctcttaccagcaaaGgtacccagtagtaatttaaa	6	11	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:75679397G>T	uc001dgu.2	-	22	2099	c.1955C>A	c.(1954-1956)CCT>CAT	p.P652H	SLC44A5_uc001dgt.2_Missense_Mutation_p.P652H|SLC44A5_uc001dgs.2_Missense_Mutation_p.P610H|SLC44A5_uc001dgr.2_Missense_Mutation_p.P610H|SLC44A5_uc010oqz.1_Missense_Mutation_p.P691H|SLC44A5_uc010ora.1_Missense_Mutation_p.P646H|SLC44A5_uc010orb.1_Missense_Mutation_p.P522H	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	652	Helical; (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)|skin(2)	4						TACCAGCAAAGGTACCCAGTA	0.259													T	75679397	G	T	75679397	3	4	55	1	0	0	0	0	1	0	0	0	14639	1000	35	5	327	5	SLC44A5	1	75679397	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	9590778	75679397	173571224	68	41416											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77510209	77510209	+	Frame_Shift_Del	DEL	G	G	-													aacctgcatctcctgagccaGgtgctgccccggctgaaggc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:77510208_77510208AG>A	uc001dhi.3	+	2	756	c.581_581AG>A	c.(580-582)cagfs	p.Q194fs	ST6GALNAC5_uc010ori.2_Intron|ST6GALNAC5_uc009wbw.3_Non-coding_Transcript	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (ST6GALNAC5), mRNA.	194					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CTCCTGAGCCAGGTGCTGCCC	0.582													-	77510209	G	-	77510209	7	5	55	1	0	1	0	1	0	0	0	0	15226	991	35	0	592	0	ST6GALNAC5	1	77510209	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	1830812	77510209	171740412	69	41417											
ZNF644	84146	broad.mit.edu	37	chr1	91405532	91405532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgttttagaagtgaattgCgatctcgaaatgtccgtcca	9	7	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:91405532C>T	uc001dnw.2	-	3	1521	c.1379G>A	c.(1378-1380)CGC>CAC	p.R460H	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.R460H	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	460	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AAGTGAATTGCGATCTCGAAA	0.393													T	91405532	C	T	91405532	3	4	55	1	0	0	0	0	1	0	0	0	18057	768	27	1	2620	1	ZNF644	1	91405532	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	13895323	91405532	157845089	70	41418											
HIAT1	64645	broad.mit.edu	37	chr1	100534100	100534100	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttctctcctacctaccGgaggcaggccaatattccag	9	13	1	0	rs35739983		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:100534100G>A	uc001dst.2	+	7	777	c.777G>A	c.(775-777)CCG>CCA	p.P259P		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	259	Helical; Name=7; (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity				0		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CCTACCTACCGGAGGCAGGCC	0.383													A	100534100	G	A	100534100	2	1	55	1	0	0	0	0	0	0	0	1	7097	1103	39	1		1	HIAT1	1	100534100	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	9128568	100534100	148716521	71	41419											
SLC30A7	148867	broad.mit.edu	37	chr1	101440402	101440402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacgtacagattgactttGcagccatgtagtgaatggaa	10	7	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:101440402G>A	uc001dtn.2	+	11	1307	c.1120G>A	c.(1120-1122)GCA>ACA	p.A374T	SLC30A7_uc001dto.2_Missense_Mutation_p.A374T	NM_001144884	NP_001138356	Q8NEW0	ZNT7_HUMAN	zinc transporter like 2	374	Cytoplasmic (Potential).				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding				0		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		GATTGACTTTGCAGCCATGTA	0.358													A	101440402	G	A	101440402	3	1	55	1	0	0	0	0	1	0	0	0	14560	1319	46	2	1162	2	SLC30A7	1	101440402	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	906302	101440402	147810219	72	41420											
S1PR1	1901	broad.mit.edu	37	chr1	101705500	101705500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaacaaggagatgcgtcgGgccttcatccggatcatgtc	11	12	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:101705500G>A	uc001dud.2	+	2	1474	c.960G>A	c.(958-960)CGG>CGA	p.R320R	S1PR1_uc009weg.2_Silent_p.R320R	NM_001400	NP_001391	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	320	Cytoplasmic (By similarity).				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)	3						AGATGCGTCGGGCCTTCATCC	0.562													A	101705500	G	A	101705500	2	1	55	1	0	0	0	0	0	0	0	1	13793	1219	43	4		4	S1PR1	1	101705500	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	265098	101705500	147545121	73	41421											
COL11A1	1301	broad.mit.edu	37	chr1	103453196	103453196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcatttaccaaccttttctCctgcttgacctgaaggacct	6	13	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:103453196C>T	uc001dul.2	-	30	2813	c.2495G>A	c.(2494-2496)GGA>GAA	p.G832E	COL11A1_uc001duk.2_Missense_Mutation_p.E23K|COL11A1_uc001dum.2_Missense_Mutation_p.G844E|COL11A1_uc001dun.2_Missense_Mutation_p.G793E|COL11A1_uc009weh.2_Missense_Mutation_p.G716E	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	832	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AACCTTTTCTCCTGCTTGACC	0.448													T	103453196	C	T	103453196	3	4	55	1	0	0	0	0	1	0	0	0	3667	855	30	4	3077	4	COL11A1	1	103453196	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1747696	103453196	145797425	74	41422											
COL11A1	1301	broad.mit.edu	37	chr1	103474067	103474068	+	Frame_Shift_Ins	INS	-	-	C													tggccccagatgaaccaggcINScccccctatagagaaaaagt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:103474066_103474067G>GC	uc001dum.3	-	14	1989_1990	c.1671_1672C>GC	c.(1669-1674)gggcctfs	p.G557fs	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Frame_Shift_Ins_p.G545fs|COL11A1_uc001dun.3_Frame_Shift_Ins_p.G506fs|COL11A1_uc009weh.3_Frame_Shift_Ins_p.G429fs	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	545	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GATGAACCAGGCCCCCCCTATA	0.366													C	103474068	-	C	103474067	7	5	55	1	0	1	1	0	0	0	0	0	3667	726	26	0	3997	0	COL11A1	1	103474067	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	20871	103474067	145776554	75	41423											
NTNG1	22854	broad.mit.edu	37	chr1	107867369	107867369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttgctggacctcgcctaCgcaatatggcttccctctac	7	14	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:107867369C>T	uc001dvh.3	+	3	1430	c.712C>T	c.(712-714)CGC>TGC	p.R238C	NTNG1_uc001dvf.3_Missense_Mutation_p.R238C|NTNG1_uc010out.1_Missense_Mutation_p.R238C|NTNG1_uc001dvc.3_Missense_Mutation_p.R238C|NTNG1_uc001dvd.1_Missense_Mutation_p.R238C	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	238	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ACCTCGCCTACGCAATATGGC	0.438													T	107867369	C	T	107867369	3	4	55	1	0	0	0	0	1	0	0	0	10704	536	19	1	718	1	NTNG1	1	107867369	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	4393302	107867369	141383252	76	41424											
FAM102B	284611	broad.mit.edu	37	chr1	109143275	109143275	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgctgccacaggcatcctAgatccttgtatctacagagt	9	11	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:109143275A>G	uc010ouy.1	+	2	305	c.225A>G	c.(223-225)CTA>CTG	p.L75L		NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN	hypothetical protein LOC284611	75										large_intestine(1)	1		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		CAGGCATCCTAGATCCTTGTA	0.433													G	109143275	A	G	109143275	2	3	55	1	0	0	0	0	0	0	0	1	5383	407	15	3		3	FAM102B	1	109143275	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1275906	109143275	140107346	77	41425											
C1orf59	113802	broad.mit.edu	37	chr1	109192991	109192991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccacagagtaatcatagcGatttgccacatataaagccc	6	12	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:109192991G>A	uc001dvt.3	-	7	836	c.598C>T	c.(598-600)CGC>TGC	p.R200C	C1orf59_uc001dvu.3_Missense_Mutation_p.R200C|C1orf59_uc009wer.2_Missense_Mutation_p.R200C	NM_001102592	NP_001096062	Q5T8I9	HENMT_HUMAN	hypothetical protein LOC113802	200					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity				0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0152)|Lung(183;0.0895)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.163)		TAATCATAGCGATTTGCCACA	0.428													A	109192991	G	A	109192991	3	1	55	1	0	0	0	0	1	0	0	0	2051	1058	37	1	591	1	C1orf59	1	109192991	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	49716	109192991	140057630	78	41426											
PRPF38B	55119	broad.mit.edu	37	chr1	109235364	109235364	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaatgtgctcccgctctggGgcaacgagaagaccatgaac	12	12	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:109235364G>T	uc001dvv.3	+	1	433	c.151G>T	c.(151-153)GGC>TGC	p.G51C	PRPF38B_uc001dvw.3_5'UTR|PRPF38B_uc010ouz.1_5'UTR	NM_018061	NP_060531	Q5VTL8	PR38B_HUMAN	PRP38 pre-mRNA processing factor 38 (yeast)	51					mRNA processing|RNA splicing	spliceosomal complex					0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		CCCGCTCTGGGGCAACGAGAA	0.433													T	109235364	G	T	109235364	3	4	55	1	0	0	0	0	1	0	0	0	12568	1232	43	5	153	5	PRPF38B	1	109235364	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	42373	109235364	140015257	79	41427											
GPSM2	29899	broad.mit.edu	37	chr1	109466682	109466683	+	Frame_Shift_Del	DEL	CA	CA	-													tttagatcttcttgccagctCacagagtcgccgtctggatg					rs145191476		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:109466681_109466682TCA>T	uc010ovc.2	+	13	2156_2157	c.1660_1661TCA>T	c.(1660-1662)tcafs	p.S554fs	AKNAD1_uc010ovb.2_Intron|GPSM2_uc010ovd.2_Frame_Shift_Del_p.S554fs|GPSM2_uc010ove.1_Frame_Shift_Del_p.S554fs	NM_013296	NP_037428	P81274	GPSM2_HUMAN	Homo sapiens G-protein signaling modulator 2 (GPSM2), mRNA.	554	GoLoco 2.				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TCTTGCCAGCTCACAGAGTCGC	0.45													-	109466683	CA	-	109466682	7	5	55	1	0	1	0	1	0	0	0	0	6735	838	29	0	1711	0	GPSM2	1	109466682	Frame_Shift_Del	DEL	CA	TCGA-BR-7851-01A-11D-2201-08	231318	109466682	139783939	80	41428											
KCNA3	3738	broad.mit.edu	37	chr1	111216961	111216961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatagtagtagaggatggcGtcgaagctgggccggttgcg	18	6	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:111216961G>A	uc001dzv.1	-	1	695	c.471C>T	c.(469-471)GAC>GAT	p.D157D		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	157						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAGGATGGCGTCGAAGCTGG	0.642													A	111216961	G	A	111216961	2	1	55	1	0	0	0	0	0	0	0	1	8004	1136	40	1		1	KCNA3	1	111216961	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1750279	111216961	138033660	81	41429											
TTF2	8458	broad.mit.edu	37	chr1	117629087	117629087	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctatagcctcgtggccaaGgagattcccacaaacaagca	8	13	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:117629087G>T	uc001egy.2	+	12	2123	c.2103G>T	c.(2101-2103)AAG>AAT	p.K701N		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	701	Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCGTGGCCAAGGAGATTCCCA	0.507													T	117629087	G	T	117629087	3	4	55	1	0	0	0	0	1	0	0	0	16716	991	35	5	2149	5	TTF2	1	117629087	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	6412126	117629087	131621534	82	41430											
WDR3	10885	broad.mit.edu	37	chr1	118492448	118492448	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttagtgaaagatgaaaatagTacccaaaagaggtgagtaga	11	3	0	6			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:118492448T>A	uc010oxe.1	+	14	1665	c.1599T>A	c.(1597-1599)AGT>AGA	p.S533R	WDR3_uc001ehi.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	533	WD 9.					nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		ATGAAAATAGTACCCAAAAGA	0.363													A	118492448	T	A	118492448	3	1	55	1	0	0	0	0	1	0	0	0	17282	1635	57	5	1649	5	WDR3	1	118492448	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	863361	118492448	130758173	83	41431											
NOTCH2	4853	broad.mit.edu	37	chr1	120497755	120497755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggtgatggggtccctcGgggcatatacagcggaaacc	16	10	0	1	rs141051853		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:120497755G>A	uc001eik.2	-	13	2383	c.2127C>T	c.(2125-2127)CCC>CCT	p.P709P	NOTCH2_uc001eil.2_Silent_p.P709P|NOTCH2_uc001eim.3_Silent_p.P626P	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	709	EGF-like 18; calcium-binding (Potential).|Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGTCCCTCGGGGCATATAC	0.527			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				A	120497755	G	A	120497755	2	1	55	1	0	0	0	0	0	0	0	1	10548	1103	39	1		1	NOTCH2	1	120497755	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2005307	120497755	128752866	84	41432											
NOTCH2	4853	broad.mit.edu	37	chr1	120539850	120539851	+	Frame_Shift_Ins	INS	-	-	A													ctcacatttctgccctgtgaINSagcctgtgaggcatttgcag							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:120539849_120539850G>GA	uc001eik.3	-	3	818_819	c.521_522C>TC	c.(520-522)ttcfs	p.F174fs	NOTCH2_uc001eil.3_Frame_Shift_Ins_p.F174fs|NOTCH2_uc021osy.1_Frame_Shift_Ins_p.F135fs|NOTCH2_uc001eim.4_Frame_Shift_Ins_p.F91fs	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	174	EGF-like 4.				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTGCCCTGTGAAGCCTGTGAG	0.55			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				A	120539851	-	A	120539850	7	5	55	1	0	1	1	0	0	0	0	0	10548	246	9	0	7018	0	NOTCH2	1	120539850	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	42095	120539850	128710771	85	41433											
PEX11B	8799	broad.mit.edu	37	chr1	145518235	145518235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagtctggactggctcccCgtgtggatcaggagaagtgg	16	8	2	1	rs150236235		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:145518235C>T	uc001eny.1	+	3	355	c.337C>T	c.(337-339)CGT>TGT	p.R113C	NBPF10_uc001emp.3_Intron|GNRHR2_uc009wiv.1_5'Flank|GNRHR2_uc010oyt.1_5'Flank|GNRHR2_uc001enx.2_5'Flank|PEX11B_uc010oyu.1_Missense_Mutation_p.R99C	NM_003846	NP_003837	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	113					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding				0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACTGGCTCCCCGTGTGGATCA	0.468													T	145518235	C	T	145518235	3	4	55	1	0	0	0	0	1	0	0	0	11738	652	23	1	365	1	PEX11B	1	145518235	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	24978385	145518235	103732386	86	41434											
BCL9	607	broad.mit.edu	37	chr1	147091501	147091502	+	Frame_Shift_Ins	INS	-	-	C													tcggggagtggtccgaggacINSccccccctccataccagatg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:147091500_147091501A>AC	uc001epq.3	+	7	2279_2280	c.1539_1540A>AC	c.(1537-1542)ggacccfs	p.G513fs	BCL9_uc010ozr.1_Frame_Shift_Ins_p.G439fs	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	513	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TGGTCCGAGGACCCCCCCCTCC	0.579			T	"IGH@, IGL@"	B-ALL								C	147091502	-	C	147091501	7	5	55	1	0	1	1	0	0	0	0	0	1381	507	18	0	1558	0	BCL9	1	147091501	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	1573266	147091501	102159120	87	41435											
SV2A	9900	broad.mit.edu	37	chr1	149881071	149881071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtaccaggtccctgtgtccGactggatctcaatcaattca	9	12	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:149881071G>A	uc001etg.2	-	7	1723	c.1232C>T	c.(1231-1233)TCG>TTG	p.S411L	SV2A_uc009wlk.2_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.S411L	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	411	Cytoplasmic (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CCCTGTGTCCGACTGGATCTC	0.572													A	149881071	G	A	149881071	3	1	55	1	0	0	0	0	1	0	0	0	15414	1059	37	1	1024	1	SV2A	1	149881071	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2789570	149881071	99369550	88	41436											
PRPF3	9129	broad.mit.edu	37	chr1	150305577	150305577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcagctgaactgcaagctcGaatccaagcccagctggcac	10	14	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:150305577G>A	uc001eum.3	+	6	797	c.635G>A	c.(634-636)CGA>CAA	p.R212Q	PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Missense_Mutation_p.R171Q|PRPF3_uc010pcb.1_Missense_Mutation_p.R163Q|PRPF3_uc009wlq.1_RNA	NM_004698	NP_004689	O43395	PRPF3_HUMAN	PRP3 pre-mRNA processing factor 3 homolog	212					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			ovary(1)	1	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CTGCAAGCTCGAATCCAAGCC	0.547													A	150305577	G	A	150305577	3	1	55	1	0	0	0	0	1	0	0	0	12565	1058	37	1	653	1	PRPF3	1	150305577	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	424506	150305577	98945044	89	41437											
ECM1	1893	broad.mit.edu	37	chr1	150485747	150485747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caatgatctgtgtggtccccGacgtaacatctggcgagacc	11	12	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:150485747G>A	uc001eus.2	+	10	1626	c.1427G>A	c.(1426-1428)CGA>CAA	p.R476Q	ECM1_uc001eut.2_Missense_Mutation_p.R351Q|ECM1_uc001euu.2_Missense_Mutation_p.R505Q|ECM1_uc001euv.2_Missense_Mutation_p.R503Q|ECM1_uc009wlu.2_Missense_Mutation_p.R236Q	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	476					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGTGGTCCCCGACGTAACATC	0.478													A	150485747	G	A	150485747	3	1	55	1	0	0	0	0	1	0	0	0	4897	1058	37	1	1465	1	ECM1	1	150485747	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	180170	150485747	98764874	90	41438											
PI4KB	5298	broad.mit.edu	37	chr1	151280270	151280270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attctctctcaggagccagtCgaacaggctacaggggtttg	12	10	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:151280270C>T	uc001ext.2	-	4	1377	c.962G>A	c.(961-963)CGA>CAA	p.R321Q	PI4KB_uc001exr.2_Missense_Mutation_p.R333Q|PI4KB_uc001exs.2_Missense_Mutation_p.R306Q|PI4KB_uc001exu.2_Missense_Mutation_p.R306Q|PI4KB_uc010pcw.1_5'UTR	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	catalytic phosphatidylinositol 4-kinase beta	321					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			ovary(2)|skin(2)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGGAGCCAGTCGAACAGGCTA	0.547													T	151280270	C	T	151280270	3	4	55	1	0	0	0	0	1	0	0	0	11874	884	31	1	1524	1	PI4KB	1	151280270	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	794523	151280270	97970351	91	41439											
CGN	57530	broad.mit.edu	37	chr1	151491113	151491113	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactctacgtcgaggtggaCgacgcccagctaaggatgca	13	12	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:151491113C>T	uc009wmw.2	+	2	262	c.118C>T	c.(118-120)CGA>TGA	p.R40*		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	34	Head.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCGAGGTGGACGACGCCCAGC	0.607													T	151491113	C	T	151491113	4	4	55	1	0	0	0	0	0	1	0	0	3303	528	19	1	120	1	CGN	1	151491113	Nonsense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	210843	151491113	97759508	92	41440											
TCHH	7062	broad.mit.edu	37	chr1	152080843	152080843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgcggaattttctgtcgCgctcctggcgcagctgttgt	12	12	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:152080843C>T	uc001ezp.2	-	2	4850	c.4850G>A	c.(4849-4851)CGC>CAC	p.R1617H	TCHH_uc009wne.1_Missense_Mutation_p.R1617H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1617	23 X 26 AA approximate tandem repeats.			Missing (in Ref. 1; AAA65582).	keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTCTGTCGCGCTCCTGGCG	0.577													T	152080843	C	T	152080843	3	4	55	1	0	0	0	0	1	0	0	0	15697	768	27	1	985	1	TCHH	1	152080843	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	589730	152080843	97169778	93	41441											
TCHH	7062	broad.mit.edu	37	chr1	152082357	152082357	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgctgcagctcctcttcCtcccgacattgcctctcccg	6	20	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:152082357C>A	uc001ezp.2	-	2	3336	c.3336G>T	c.(3334-3336)GAG>GAT	p.E1112D	TCHH_uc009wne.1_Missense_Mutation_p.E1112D	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1112	10 X 30 AA tandem repeats.|4-7.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gctcctcttcctccCGACATT	0.174													A	152082357	C	A	152082357	3	1	55	1	0	0	0	0	1	0	0	0	15697	680	24	5	2499	5	TCHH	1	152082357	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1514	152082357	97168264	94	41442											
FLG2	388698	broad.mit.edu	37	chr1	152325220	152325220	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatggattctgactgtccaTgttgagatccagcttgacca	9	10	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:152325220T>C	uc001ezw.3	-	3	5115	c.5042A>G	c.(5041-5043)CAT>CGT	p.H1681R	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1681							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTGTCCATGTTGAGATCC	0.478													C	152325220	T	C	152325220	3	2	55	1	0	0	0	0	1	0	0	0	5923	1464	51	3	2137	3	FLG2	1	152325220	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	242863	152325220	96925401	95	41443											
FLG2	388698	broad.mit.edu	37	chr1	152327682	152327682	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccgaacttgacccatgTtgaccatagccagatgattg	9	11	0	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:152327682T>C	uc001ezw.3	-	3	2653	c.2580A>G	c.(2578-2580)CAA>CAG	p.Q860Q	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	860	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCCATGTTGACCATAGC	0.498													C	152327682	T	C	152327682	2	2	55	1	0	0	0	0	0	0	0	1	5923	1722	60	3		3	FLG2	1	152327682	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	2462	152327682	96922939	96	41444											
INTS3	65123	broad.mit.edu	37	chr1	153730118	153730118	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcaactccagatagtcAgtctctgcgctgtgacctca	8	14	4	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:153730118A>G	uc009wom.2	+	11	1249	c.1028A>G	c.(1027-1029)CAG>CGG	p.Q343R	INTS3_uc001fct.2_Missense_Mutation_p.Q343R|INTS3_uc001fcu.2_Missense_Mutation_p.Q35R|INTS3_uc001fcv.2_Missense_Mutation_p.Q137R|INTS3_uc010peb.1_Missense_Mutation_p.Q137R|INTS3_uc001fcw.2_5'UTR|INTS3_uc010pec.1_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	344					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCAGATAGTCAGTCTCTGCGC	0.502													G	153730118	A	G	153730118	3	3	55	1	0	0	0	0	1	0	0	0	7779	188	7	3	1066	3	INTS3	1	153730118	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1402436	153730118	95520503	97	41445											
DENND4B	9909	broad.mit.edu	37	chr1	153904887	153904887	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggggctcaggtatgcccaTgccccactctcaacccgccg	11	17	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:153904887T>C	uc001fdd.1	-	24	4190	c.3789A>G	c.(3787-3789)GCA>GCG	p.A1263A	uc001fdc.1_Intron	NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1263										ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGTATGCCCATGCCCCACTCT	0.642													C	153904887	T	C	153904887	2	2	55	1	0	0	0	0	0	0	0	1	4434	1451	51	3		3	DENND4B	1	153904887	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	174769	153904887	95345734	98	41446											
ZBTB7B	51043	broad.mit.edu	37	chr1	154987334	154987334	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagcttttcactgagggCggtggcggagctgtcatggg	17	7	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:154987334C>T	uc001fgk.3	+	3	356	c.198C>T	c.(196-198)GGC>GGT	p.G66G	ZBTB7B_uc009wpa.2_Silent_p.G66G|ZBTB7B_uc001fgj.3_Silent_p.G100G|ZBTB7B_uc010peq.1_Silent_p.G100G|ZBTB7B_uc001fgl.3_Silent_p.G66G	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	66	BTB.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	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)			TCACTGAGGGCGGTGGCGGAG	0.632													T	154987334	C	T	154987334	2	4	55	1	0	0	0	0	0	0	0	1	17551	755	27	1		1	ZBTB7B	1	154987334	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1082447	154987334	94263287	99	41447											
TRIM46	80128	broad.mit.edu	37	chr1	155154492	155154492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgtggtcctgggcgacGtggctgtgacccagggccgc	18	11	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:155154492G>A	uc001fhs.1	+	9	1836	c.1753G>A	c.(1753-1755)GTG>ATG	p.V585M	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.V459M|TRIM46_uc001fhu.1_Missense_Mutation_p.V562M|TRIM46_uc009wpg.1_Missense_Mutation_p.V572M|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	585	B30.2/SPRY.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTGGGCGACGTGGCTGTGAC	0.557													A	155154492	G	A	155154492	3	1	55	1	0	0	0	0	1	0	0	0	16518	1145	40	1	1787	1	TRIM46	1	155154492	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	167158	155154492	94096129	100	41448											
HCN3	57657	broad.mit.edu	37	chr1	155254532	155254532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccctggactcttcccggcGtcagtaccaggagaaggtca	12	13	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:155254532G>A	uc001fjz.1	+	4	1081	c.1073G>A	c.(1072-1074)CGT>CAT	p.R358H	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Missense_Mutation_p.R53H	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	358	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCTTCCCGGCGTCAGTACCAG	0.592													A	155254532	G	A	155254532	3	1	55	1	0	0	0	0	1	0	0	0	6998	1145	40	1	1087	1	HCN3	1	155254532	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	100040	155254532	93996089	101	41449											
PKLR	5313	broad.mit.edu	37	chr1	155265010	155265010	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagtccacccacacggtgttCgcgttcccccgcgtccggaa	10	17	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:155265010C>T	uc001fkb.3	-	5	630	c.591G>A	c.(589-591)GCG>GCA	p.A197A	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Silent_p.A166A	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	197					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	ACACGGTGTTCGCGTTCCCCC	0.632													T	155265010	C	T	155265010	2	4	55	1	0	0	0	0	0	0	0	1	11976	871	31	1		1	PKLR	1	155265010	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	10478	155265010	93985611	102	41450											
PMF1	11243	broad.mit.edu	37	chr1	156206195	156206195	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccgagaaccagcagcTggcagatgccgtcctggcag	16	12	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:156206195T>G	uc001fnq.2	+	4	508	c.485T>G	c.(484-486)CTG>CGG	p.L162R	PMF1_uc001fnr.2_Missense_Mutation_p.W142G|BGLAP_uc001fns.1_Intron	NM_007221	NP_009152	Q6P1K2	PMF1_HUMAN	polyamine-modulated factor 1	162	Potential.				cell division|chromosome segregation|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytosol|MIS12/MIND type complex|transcription factor complex	leucine zipper domain binding|transcription coactivator activity				0	Hepatocellular(266;0.158)					AACCAGCAGCTGGCAGATGCC	0.647													G	156206195	T	G	156206195	3	3	55	1	0	0	0	0	1	0	0	0	12133	1580	55	5	499	5	PMF1	1	156206195	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	941185	156206195	93044426	103	41451											
PAQR6	79957	broad.mit.edu	37	chr1	156214974	156214974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgaacaggaatggataggCgaaggctcctgtgcggagga	17	7	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:156214974C>T	uc001fnu.1	-	6	638	c.568G>A	c.(568-570)GCC>ACC	p.A190T	PAQR6_uc010phf.1_Silent_p.S56S|PAQR6_uc001fny.1_5'UTR|PAQR6_uc001fnv.1_Missense_Mutation_p.A166T|PAQR6_uc010phg.1_Missense_Mutation_p.A187T|PAQR6_uc001fnx.1_Missense_Mutation_p.A84T|PAQR6_uc001fnw.1_Missense_Mutation_p.A84T|PAQR6_uc001fnz.1_Missense_Mutation_p.A84T|PAQR6_uc010phh.1_Missense_Mutation_p.A190T|PAQR6_uc001foa.1_Missense_Mutation_p.A84T|PAQR6_uc001fob.1_RNA	NM_198406	NP_940798	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	190	Cytoplasmic (Potential).					integral to membrane	receptor activity				0	Hepatocellular(266;0.158)					AATGGATAGGCGAAGGCTCCT	0.602													T	156214974	C	T	156214974	3	4	55	1	0	0	0	0	1	0	0	0	11439	768	27	1	817	1	PAQR6	1	156214974	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	8779	156214974	93035647	104	41452											
SMG5	23381	broad.mit.edu	37	chr1	156237904	156237904	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcatgctctcttccactcAcctgcttttgggctgtagga	9	12	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:156237904A>G	uc001foc.3	-	9	1057	c.908_splice	c.e9+1	p.S303_splice		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay						mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					TCTTCCACTCACCTGCTTTTG	0.458													G	156237904	A	G	156237904	5	3	55	1	0	0	0	0	0	0	1	0	14796	173	6	3	2196	3	SMG5	1	156237904	Splice_Site	SNP	A	TCGA-BR-7851-01A-11D-2201-08	22930	156237904	93012717	105	41453											
RHBG	57127	broad.mit.edu	37	chr1	156339144	156339144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctttgctgtctttgtccGctacaaccacaaaaccgacg	6	15	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:156339144G>A	uc010pho.1	+	1	142	c.104G>A	c.(103-105)CGC>CAC	p.R35H	RHBG_uc010phm.1_Missense_Mutation_p.R35H|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_5'UTR|RHBG_uc009wrz.2_5'UTR|RHBG_uc001for.2_5'UTR	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Rhesus blood group, B glycoprotein	35	Extracellular (Potential).				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			ovary(2)	2	Hepatocellular(266;0.158)					GTCTTTGTCCGCTACAACCAC	0.627													A	156339144	G	A	156339144	3	1	55	1	0	0	0	0	1	0	0	0	13324	1087	38	1	106	1	RHBG	1	156339144	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	101240	156339144	92911477	106	41454											
MEF2D	4209	broad.mit.edu	37	chr1	156449123	156449123	+	Frame_Shift_Del	DEL	C	C	-													cgttagcactgttcaggtcaCcccccagcatggcccctgga							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:156449123delC	uc001fpc.2	-	6	1013	c.623delG	c.(622-624)GGTfs	p.G208fs	MEF2D_uc001fpb.2_Frame_Shift_Del_p.G208fs|MEF2D_uc001fpd.2_Frame_Shift_Del_p.G208fs|MEF2D_uc001fpe.1_Frame_Shift_Del_p.G208fs|MEF2D_uc009wsa.2_RNA	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	208					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTTCAGGTCACCCCCCAGCAT	0.602													-	156449123	C	-	156449123	7	5	55	1	0	1	0	1	0	0	0	0	9458	507	18	0	970	0	MEF2D	1	156449123	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	109979	156449123	92801498	107	41455											
PRCC	5546	broad.mit.edu	37	chr1	156756757	156756757	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacctggagttgagccatacCcttaccccatccccactgtc	6	18	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:156756757C>A	uc001fqa.2	+	3	1164	c.874C>A	c.(874-876)CCT>ACT	p.P292T	PRCC_uc001fqb.2_Missense_Mutation_p.P292T	NM_005973	NP_005964	Q92733	PRCC_HUMAN	papillary renal cell carcinoma	292					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	kidney(25)|central_nervous_system(2)	27	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGAGCCATACCCTTACCCCAT	0.562			T	TFE3	papillary renal 								A	156756757	C	A	156756757	3	1	55	1	0	0	0	0	1	0	0	0	12447	623	22	5	884	5	PRCC	1	156756757	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	307634	156756757	92493864	108	41456											
FCRL3	115352	broad.mit.edu	37	chr1	157666085	157666085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgccctccggtgggccGgatctctagattcacattag	11	13	2	1	rs146153982		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:157666085G>A	uc001frb.2	-	7	1169	c.877C>T	c.(877-879)CGG>TGG	p.R293W	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.R293W|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.R19W|FCRL3_uc001frc.1_Missense_Mutation_p.R293W	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	293	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					CCGGTGGGCCGGATCTCTAGA	0.532													A	157666085	G	A	157666085	3	1	55	1	0	0	0	0	1	0	0	0	5796	1115	39	1	1363	1	FCRL3	1	157666085	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	909328	157666085	91584536	109	41457											
ATP1A4	480	broad.mit.edu	37	chr1	160136351	160136351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacagccaagcgcatggcgCggaagaactgcctggtgaag	14	11	1	2	rs143083729	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:160136351C>T	uc001fve.3	+	8	1560	c.1081C>T	c.(1081-1083)CGG>TGG	p.R361W	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'UTR	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	361	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCGCATGGCGCGGAAGAACTG	0.567													T	160136351	C	T	160136351	3	4	55	1	0	0	0	0	1	0	0	0	1131	759	27	1	1111	1	ATP1A4	1	160136351	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2470266	160136351	89114270	110	41458											
DCAF8	50717	broad.mit.edu	37	chr1	160188206	160188206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaagctatcttcatcccGctcccgcttgttcttcttaa	6	14	4	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:160188206G>A	uc001fvo.2	-	13	1897	c.1585C>T	c.(1585-1587)CGG>TGG	p.R529W	DCAF8_uc001fvn.2_Missense_Mutation_p.R529W|DCAF8_uc009wth.2_Missense_Mutation_p.R529W|DCAF8_uc010pjb.1_Missense_Mutation_p.R529W|DCAF8_uc010pjc.1_Missense_Mutation_p.R683W	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	529						CUL4 RING ubiquitin ligase complex	protein binding			skin(2)	2						TCTTCATCCCGCTCCCGCTTG	0.512													A	160188206	G	A	160188206	3	1	55	1	0	0	0	0	1	0	0	0	4276	1086	38	1	216	1	DCAF8	1	160188206	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	51855	160188206	89062415	111	41459											
POGK	57645	broad.mit.edu	37	chr1	166819124	166819124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatggaaattcgctgccaCcggtatgggtggatgactga	16	7	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:166819124C>T	uc001gdt.1	+	5	1428	c.1308C>T	c.(1306-1308)CAC>CAT	p.H436H	POGK_uc010ple.1_Silent_p.H351H|POGK_uc010plf.1_Silent_p.H318H	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	436	DDE.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						TTCGCTGCCACCGGTATGGGT	0.547													T	166819124	C	T	166819124	2	4	55	1	0	0	0	0	0	0	0	1	12185	506	18	4		4	POGK	1	166819124	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	6630918	166819124	82431497	112	41460											
ILDR2	387597	broad.mit.edu	37	chr1	166944501	166944501	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccacctcagcaagaccctaTccatcttccccaacttccca	2	20	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:166944501T>C	uc001gdx.1	-	1	61	c.5A>G	c.(4-6)GAT>GGT	p.D2G		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	2	Extracellular (Potential).					integral to membrane				ovary(1)	1						CAAGACCCTATCCATCTTCCC	0.403													C	166944501	T	C	166944501	3	2	55	1	0	0	0	0	1	0	0	0	7710	1435	50	3	1954	3	ILDR2	1	166944501	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	125377	166944501	82306120	113	41461											
RCSD1	92241	broad.mit.edu	37	chr1	167653175	167653175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgccaatgtggacaactcGgcgtccccctcggtggccca	11	15	0	0	rs112577989	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:167653175G>A	uc001gem.2	+	2	232	c.45G>A	c.(43-45)TCG>TCA	p.S15S	RCSD1_uc010pli.1_Silent_p.S15S	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	15										ovary(2)|central_nervous_system(2)|skin(1)	5	all_hematologic(923;0.215)					TGGACAACTCGGCGTCCCCCT	0.592													A	167653175	G	A	167653175	2	1	55	1	0	0	0	0	0	0	0	1	13185	1103	39	1		1	RCSD1	1	167653175	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	708674	167653175	81597446	114	41462											
SELL	6402	broad.mit.edu	37	chr1	169672458	169672458	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacaaatggttttcttcttcCcaattaactcagttccttct	3	12	4	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:169672458C>A	uc001ggk.2	-	6	1088	c.890G>T	c.(889-891)GGG>GTG	p.G297V	C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_Missense_Mutation_p.G250V|SELL_uc001ggl.1_Missense_Mutation_p.G310V	NM_000655	NP_000646	P14151	LYAM1_HUMAN	selectin L precursor	297	Extracellular (Potential).|Sushi 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding				0	all_hematologic(923;0.208)					TTTCTTCTTCCCAATTAACTC	0.428													A	169672458	C	A	169672458	3	1	55	1	0	0	0	0	1	0	0	0	14016	623	22	5	244	5	SELL	1	169672458	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2019283	169672458	79578163	115	41463											
SELE	6401	broad.mit.edu	37	chr1	169696562	169696562	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgcagagccattgagcgTccatccttcaggacaggcga	12	12	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:169696562T>C	uc001ggm.3	-	10	1730	c.1573A>G	c.(1573-1575)ACG>GCG	p.T525A	C1orf112_uc001ggj.2_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	selectin E precursor	525	Extracellular (Potential).|Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			ovary(3)|skin(2)	5	all_hematologic(923;0.208)					CCATTGAGCGTCCATCCTTCA	0.542													C	169696562	T	C	169696562	3	2	55	1	0	0	0	0	1	0	0	0	14013	1667	58	3	275	3	SELE	1	169696562	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	24104	169696562	79554059	116	41464											
SCYL3	57147	broad.mit.edu	37	chr1	169823861	169823861	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatctaagctgctgggctcGcagtcatcccaagatgactc	10	12	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:169823861G>A	uc001ggs.2	-	13	1917	c.1719C>T	c.(1717-1719)TGC>TGT	p.C573C	SCYL3_uc010plw.1_Silent_p.C165C|SCYL3_uc001ggt.2_Silent_p.C519C|SCYL3_uc001ggu.2_RNA	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	573	Interaction with EZR.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCTGGGCTCGCAGTCATCCC	0.468													A	169823861	G	A	169823861	2	1	55	1	0	0	0	0	0	0	0	1	13949	1079	38	1		1	SCYL3	1	169823861	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	127299	169823861	79426760	117	41465											
SLC9A11	284525	broad.mit.edu	37	chr1	173494047	173494047	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaatgacaacatcacgAccctcatgctccatgagtac	6	13	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:173494047A>G	uc001giz.2	-	20	2808	c.2385T>C	c.(2383-2385)GGT>GGC	p.G795G	SLC9A11_uc009wwe.2_Silent_p.G353G|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	795					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						CAACATCACGACCCTCATGCT	0.313													G	173494047	A	G	173494047	2	3	55	1	0	0	0	0	0	0	0	1	14711	262	10	3		3	SLC9A11	1	173494047	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	3670186	173494047	75756574	118	41466											
GPR52	9293	broad.mit.edu	37	chr1	174418193	174418193	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatagtttttgtaactgtgTaatatacagcctctccaaca	5	8	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:174418193T>C	uc001gka.1	+	1	982	c.944T>C	c.(943-945)GTA>GCA	p.V315A	RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron|uc010pmu.1_RNA	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	315	Helical; Name=7; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1						TGTAACTGTGTAATATACAGC	0.433													C	174418193	T	C	174418193	3	2	55	1	0	0	0	0	1	0	0	0	6698	1638	57	3	946	3	GPR52	1	174418193	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	924146	174418193	74832428	119	41467											
RABGAP1L	9910	broad.mit.edu	37	chr1	174671277	174671277	+	Frame_Shift_Del	DEL	T	T	-													ctaccggacctgcatagccaTttttctgatctgaacctgga							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:174671277delT	uc001gjx.2	+	17	2247	c.2052delT	c.(2050-2052)CATfs	p.H684fs	RABGAP1L_uc001gkb.3_5'UTR|RABGAP1L_uc001gkc.3_5'UTR|RABGAP1L_uc001gkd.3_Frame_Shift_Del_p.H10fs	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	684	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4						TGCATAGCCATTTTTCTGATC	0.448													-	174671277	T	-	174671277	7	5	55	1	0	1	0	1	0	0	0	0	12965	1490	52	0	2114	0	RABGAP1L	1	174671277	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	253084	174671277	74579344	120	41468											
TNN	63923	broad.mit.edu	37	chr1	175066629	175066629	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctcctgggacccggtacaGgccaccattgacaagtacgt	10	13	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:175066629G>T	uc001gkl.1	+	8	1778	c.1665G>T	c.(1663-1665)CAG>CAT	p.Q555H	TNN_uc010pmx.1_Intron	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	555	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACCCGGTACAGGCCACCATTG	0.547													T	175066629	G	T	175066629	3	4	55	1	0	0	0	0	1	0	0	0	16320	991	35	5	1691	5	TNN	1	175066629	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	395352	175066629	74183992	121	41469											
PAPPA2	60676	broad.mit.edu	37	chr1	176563964	176563964	+	Frame_Shift_Del	DEL	G	G	-													tcttgccgctctttgctcctGgggggagacagctctgagga							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:176563963_176563963TG>T	uc001gkz.3	+	2	2387	c.1223_1223TG>T	c.(1222-1224)ctgfs	p.L408fs	PAPPA2_uc001gky.1_Frame_Shift_Del_p.L408fs|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	408					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L408fs*49(3)|p.L408L(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTTTGCTCCTGGGGGGAGAC	0.577													-	176563964	G	-	176563964	7	5	55	1	0	1	0	1	0	0	0	0	11433	1335	47	0	1230	0	PAPPA2	1	176563964	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	1497335	176563964	72686657	122	41470											
RASAL2	9462	broad.mit.edu	37	chr1	178414799	178414799	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcttcatgacgcactgggTatgaaagagaaaaacatcta	8	7	3	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:178414799T>C	uc001glr.2	+	7	1308	c.1183_splice	c.e7+2	p.G395_splice	RASAL2_uc001glq.2_Splice_Site_p.G543_splice	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1						negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						ACGCACTGGGTATGAAAGAGA	0.373													C	178414799	T	C	178414799	5	2	55	1	0	0	0	0	0	0	1	0	13064	1652	57	3	1680	3	RASAL2	1	178414799	Splice_Site	SNP	T	TCGA-BR-7851-01A-11D-2201-08	1850835	178414799	70835822	123	41471											
CACNA1E	777	broad.mit.edu	37	chr1	181453006	181453006	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggccgcctacaagcagacGaaagcacagagggcgcggac	15	13	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:181453006G>A	uc001gow.2	+	1	291	c.126G>A	c.(124-126)ACG>ACA	p.T42T		NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	42	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						ACAAGCAGACGAAAGCACAGA	0.622													A	181453006	G	A	181453006	2	1	55	1	0	0	0	0	0	0	0	1	2542	1045	37	1		1	CACNA1E	1	181453006	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3038207	181453006	67797615	124	41472											
C1orf25	81627	broad.mit.edu	37	chr1	185109329	185109329	+	Frame_Shift_Del	DEL	T	T	-													ttgactgcatttccaagatgTtttgcccactgtaatcccat							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:185109329delT	uc001grf.3	-	8	1157	c.885delA	c.(883-885)AAAfs	p.K295fs	C1orf25_uc010pon.1_Frame_Shift_Del_p.K139fs	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA	295						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0						TTCCAAGATGTTTTGCCCACT	0.308													-	185109329	T	-	185109329	7	5	55	1	0	1	0	1	0	0	0	0	2034	1722	60	0	1348	0	C1orf25	1	185109329	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	3656323	185109329	64141292	125	41473											
HMCN1	83872	broad.mit.edu	37	chr1	185897784	185897784	+	Frame_Shift_Del	DEL	T	T	-													gtactggacgggcacagacaTtttttgacgtatcaggtaat							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:185897784delT	uc001grq.1	+	10	1766	c.1537delT	c.(1537-1539)TTTfs	p.F513fs		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	513	Ig-like C2-type 1.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GGCACAGACATTTTTTGACGT	0.403													-	185897784	T	-	185897784	7	5	55	1	0	1	0	1	0	0	0	0	7220	1493	52	0	1575	0	HMCN1	1	185897784	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	788455	185897784	63352837	126	41474											
PRG4	10216	broad.mit.edu	37	chr1	186282863	186282863	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacagcaagagcaattactActcgttctgggcagacctta	9	10	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:186282863A>G	uc001gru.3	+	13	4219	c.4168A>G	c.(4168-4170)ACT>GCT	p.T1390A	PRG4_uc001grt.3_Missense_Mutation_p.T1349A|PRG4_uc009wyl.2_Missense_Mutation_p.T1297A|PRG4_uc009wym.2_Missense_Mutation_p.T1256A|PRG4_uc010poo.1_RNA|TPR_uc001grv.2_3'UTR	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	1390					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						AGCAATTACTACTCGTTCTGG	0.343													G	186282863	A	G	186282863	3	3	55	1	0	0	0	0	1	0	0	0	12481	391	14	3	4214	3	PRG4	1	186282863	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	385079	186282863	62967758	127	41475											
CDC73	79577	broad.mit.edu	37	chr1	193099372	193099372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatatctcaatggtgaagcGtgtgagtactttttaaattg	11	4	1	2	rs141131532		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:193099372G>A	uc001gtb.2	+	3	549	c.306G>A	c.(304-306)GCG>GCA	p.A102A		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	102					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						ATGGTGAAGCGTGTGAGTACT	0.219									Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome				A	193099372	G	A	193099372	2	1	55	1	0	0	0	0	0	0	0	1	3085	1159	40	1		1	CDC73	1	193099372	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	6816509	193099372	56151249	128	41476											
CFHR5	81494	broad.mit.edu	37	chr1	196977710	196977710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgcaaaaacaggggatgCtgttgaattccagtgtaaat	10	6	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:196977710C>T	uc001gts.3	+	10	1735	c.1607C>T	c.(1606-1608)GCT>GTT	p.A536V		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	536	Sushi 9.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						ACAGGGGATGCTGTTGAATTC	0.363													T	196977710	C	T	196977710	3	4	55	1	0	0	0	0	1	0	0	0	3288	797	28	2	1645	2	CFHR5	1	196977710	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3878338	196977710	52272911	129	41477											
ZBTB41	360023	broad.mit.edu	37	chr1	197168526	197168526	+	Frame_Shift_Del	DEL	T	T	-													acatttaggacactgcaataTttttttgttgctgttctgaa							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:197168526delT	uc001gtx.1	-	1	1147	c.1078delA	c.(1078-1080)ATAfs	p.I360fs	ZBTB41_uc009wyz.1_RNA|CRB1_uc010poz.1_5'Flank	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						CACTGCAATATTTTTTTGTTG	0.353													-	197168526	T	-	197168526	7	5	55	1	0	1	0	1	0	0	0	0	17540	1493	52	0	1691	0	ZBTB41	1	197168526	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	190816	197168526	52082095	130	41478											
CRB1	23418	broad.mit.edu	37	chr1	197411413	197411413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctttgctggcgagcgctgCgaggtggacgtaagcagcct	16	11	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:197411413C>T	uc001gtz.2	+	11	4131	c.3996C>T	c.(3994-3996)TGC>TGT	p.C1332C	CRB1_uc010poz.1_Silent_p.C1308C|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.C1220C|CRB1_uc010ppb.1_Silent_p.C796C|CRB1_uc010ppd.1_Silent_p.C813C|CRB1_uc001gub.1_3'UTR	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	1332	Extracellular (Potential).|EGF-like 19; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						GCGAGCGCTGCGAGGTGGACG	0.483													T	197411413	C	T	197411413	2	4	55	1	0	0	0	0	0	0	0	1	3848	776	27	1		1	CRB1	1	197411413	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	242887	197411413	51839208	131	41479											
DENND1B	163486	broad.mit.edu	37	chr1	197621403	197621403	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtatttgcctttggtactgGgtggttatacagtgatctga	12	5	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:197621403G>T	uc001guf.3	-	7	747	c.409C>A	c.(409-411)CCA>ACA	p.P137T	DENND1B_uc010ppe.1_Missense_Mutation_p.P137T|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Missense_Mutation_p.P127T|DENND1B_uc001gug.3_5'UTR	NM_144977	NP_659414	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B isoform 2	137	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0						TTTGGTACTGGGTGGTTATAC	0.333													T	197621403	G	T	197621403	3	4	55	1	0	0	0	0	1	0	0	0	4427	1232	43	5	2027	5	DENND1B	1	197621403	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	209990	197621403	51629218	132	41480											
ZNF281	23528	broad.mit.edu	37	chr1	200376244	200376244	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagaaatctgacactgAagtccttactctatggtcca	7	12	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:200376244A>G	uc001gve.2	-	2	2697	c.2590T>C	c.(2590-2592)TCA>CCA	p.S864P	ZNF281_uc001gvf.1_Missense_Mutation_p.S864P|ZNF281_uc001gvg.1_Missense_Mutation_p.S828P	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	864					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)	2						TCTGACACTGAAGTCCTTACT	0.443													G	200376244	A	G	200376244	3	3	55	1	0	0	0	0	1	0	0	0	17815	246	9	3	101	3	ZNF281	1	200376244	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	2754841	200376244	48874377	133	41481											
KIF14	9928	broad.mit.edu	37	chr1	200561296	200561296	+	Frame_Shift_Del	DEL	T	T	-													agtatctcttccagatggccTttttcctttctggacttcta							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:200561295_200561295CT>C	uc010ppk.1	-	15	3165	c.2726_2726AG>G	c.(2725-2727)aggfs	p.R909fs	KIF14_uc010ppj.1_Frame_Shift_Del_p.R418fs	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	909	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TCCAGATGGCCTTTTTCCTTT	0.378													-	200561296	T	-	200561296	7	5	55	1	0	1	0	1	0	0	0	0	8276	1608	56	0	2281	0	KIF14	1	200561296	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	185052	200561296	48689325	134	41482											
IGFN1	91156	broad.mit.edu	37	chr1	201184182	201184182	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctttaagcaagacggtctCgtgcacagcctcttcatcac	7	13	5	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:201184182C>T	uc001gwc.2	+	3	1147	c.375C>T	c.(373-375)CTC>CTT	p.L125L	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						AAGACGGTCTCGTGCACAGCC	0.602													T	201184182	C	T	201184182	2	4	55	1	0	0	0	0	0	0	0	1	7590	871	31	1		1	IGFN1	1	201184182	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	622886	201184182	48066439	135	41483											
PKP1	5317	broad.mit.edu	37	chr1	201292264	201292264	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagagcaagaaagatgctAccctggaggcctgtgctggt	14	9	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:201292264A>G	uc001gwd.2	+	10	1941	c.1690A>G	c.(1690-1692)ACC>GCC	p.T564A	PKP1_uc001gwe.2_Missense_Mutation_p.T543A|PKP1_uc009wzm.2_Missense_Mutation_p.T151A	NM_000299	NP_000290	Q13835	PKP1_HUMAN	plakophilin 1 isoform 1b	564	ARM 7.				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			ovary(2)	2						GAAAGATGCTACCCTGGAGGC	0.597													G	201292264	A	G	201292264	3	3	55	1	0	0	0	0	1	0	0	0	11984	391	14	3	1728	3	PKP1	1	201292264	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	108082	201292264	47958357	136	41484											
LMOD1	25802	broad.mit.edu	37	chr1	201868874	201868874	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagatgtgtcgctggttgtGgaagcggagctcggtcagcg	17	8	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:201868874G>T	uc001gxb.2	-	2	1515	c.1267C>A	c.(1267-1269)CAC>AAC	p.H423N	LMOD1_uc010ppu.1_Missense_Mutation_p.H372N	NM_012134	NP_036266	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	423					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			ovary(1)|pancreas(1)|skin(1)	3						CGCTGGTTGTGGAAGCGGAGC	0.572													T	201868874	G	T	201868874	3	4	55	1	0	0	0	0	1	0	0	0	8856	1348	47	5	543	5	LMOD1	1	201868874	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	576610	201868874	47381747	137	41485											
ATP2B4	493	broad.mit.edu	37	chr1	203672793	203672793	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccagcaaagacccaagaCggagtggccctggaaatcca	10	13	0	2	rs145839216	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:203672793C>T	uc001gzw.2	+	8	1835	c.951C>T	c.(949-951)GAC>GAT	p.D317D	ATP2B4_uc001gzv.2_Silent_p.D317D|ATP2B4_uc009xaq.2_Silent_p.D317D	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	317	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGACCCAAGACGGAGTGGCCC	0.522													T	203672793	C	T	203672793	2	4	55	1	0	0	0	0	0	0	0	1	1142	535	19	1		1	ATP2B4	1	203672793	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1803919	203672793	45577828	138	41486											
PLEKHA6	22874	broad.mit.edu	37	chr1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-													aaggtcttcaggcgggggtaCcccccggcgcagattcaccc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:204228410_204228410AC>A	uc001hau.3	-	7	1300	c.983_983GT>T	c.(982-984)gtafs	p.V328fs	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	328	Pro-rich.							p.V328fs*172(3)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			AGGCGGGGGTACCCCCCGGCG	0.627													-	204228411	C	-	204228411	7	5	55	1	0	1	0	1	0	0	0	0	12060	507	18	0	2224	0	PLEKHA6	1	204228411	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	555618	204228411	45022210	139	41487											
PIK3C2B	5287	broad.mit.edu	37	chr1	204438765	204438765	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcccagctgatgagagAggggtctgcgttctgcttgg	14	10	3	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:204438765A>G	uc001haw.2	-	3	645	c.166T>C	c.(166-168)TCT>CCT	p.S56P	PIK3C2B_uc010pqv.1_Missense_Mutation_p.S56P|PIK3C2B_uc001hax.1_Missense_Mutation_p.S56P|PIK3C2B_uc009xbd.1_RNA	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	56	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTGATGAGAGAGGGGTCTGCG	0.592													G	204438765	A	G	204438765	3	3	55	1	0	0	0	0	1	0	0	0	11910	304	11	3	4866	3	PIK3C2B	1	204438765	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	210354	204438765	44811856	140	41488											
LRRN2	10446	broad.mit.edu	37	chr1	204588874	204588874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcactctggtccacacGgacaatgctgttgctctgca	9	14	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:204588874G>A	uc001hbe.1	-	3	635	c.247C>T	c.(247-249)CGT>TGT	p.R83C	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.R83C|LRRN2_uc009xbf.1_Missense_Mutation_p.R83C|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	83	LRR 1.|Extracellular (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGGTCCACACGGACAATGCTG	0.597													A	204588874	G	A	204588874	3	1	55	1	0	0	0	0	1	0	0	0	9035	1116	39	1	1898	1	LRRN2	1	204588874	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	150109	204588874	44661747	141	41489											
NFASC	23114	broad.mit.edu	37	chr1	204951139	204951139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccgtcatcggttactccGgagaagattgtgagtagtct	12	8	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:204951139G>A	uc001hbj.2	+	21	2789	c.2461G>A	c.(2461-2463)GGA>AGA	p.G821R	NFASC_uc010pra.1_Missense_Mutation_p.G817R|NFASC_uc001hbi.2_Missense_Mutation_p.G817R|NFASC_uc010prb.1_Missense_Mutation_p.G832R|NFASC_uc010prc.1_Missense_Mutation_p.G388R|NFASC_uc001hbk.1_Missense_Mutation_p.G627R|NFASC_uc001hbl.1_Missense_Mutation_p.G71R	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	821	Extracellular (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CGGTTACTCCGGAGAAGATTG	0.612													A	204951139	G	A	204951139	3	1	55	1	0	0	0	0	1	0	0	0	10359	1117	39	1	2619	1	NFASC	1	204951139	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	362265	204951139	44299482	142	41490											
TMCC2	9911	broad.mit.edu	37	chr1	205210873	205210873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcccaccgccttcaacCgcgtgctgcagcagatccgc	10	20	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:205210873C>T	uc001hbz.1	+	3	892	c.448C>T	c.(448-450)CGC>TGC	p.R150C	TMCC2_uc010prf.1_Missense_Mutation_p.R72C	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	150						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGCCTTCAACCGCGTGCTGCA	0.532													T	205210873	C	T	205210873	3	4	55	1	0	0	0	0	1	0	0	0	15990	652	23	1	454	1	TMCC2	1	205210873	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	259734	205210873	44039748	143	41491											
TMCC2	9911	broad.mit.edu	37	chr1	205211130	205211130	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggccgacggcagcaaCgtgtacctcctggctgagga	14	13	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:205211130C>T	uc001hbz.1	+	3	1149	c.705C>T	c.(703-705)AAC>AAT	p.N235N	TMCC2_uc010prf.1_Silent_p.N157N	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	235				TALLLADGSNVYLLAEEAEGIGDK -> MNQVVQPLMSRHS ACRGSQAHLSW (in Ref. 6).		integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACGGCAGCAACGTGTACCTCC	0.677													T	205211130	C	T	205211130	2	4	55	1	0	0	0	0	0	0	0	1	15990	535	19	1		1	TMCC2	1	205211130	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	257	205211130	44039491	144	41492											
IL10	3586	broad.mit.edu	37	chr1	206943240	206943240	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacagggaagaaatcgatgCtgtggaagaaaagagaaagt	13	4	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:206943240C>T	uc001hen.1	-	4	438	c.379_splice	c.e4-1	p.H127_splice		NM_000572	NP_000563	P22301	IL10_HUMAN	interleukin 10 precursor						anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GAAATCGATGCTGTGGAAGAA	0.498													T	206943240	C	T	206943240	5	4	55	1	0	0	0	0	0	0	1	0	7619	811	28	2	166	2	IL10	1	206943240	Splice_Site	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1732110	206943240	42307381	145	41493											
CR1	1378	broad.mit.edu	37	chr1	207739262	207739262	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaatagcagtgttccagtgTgtgaacgtgagtaataggag	15	4	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:207739262T>C	uc001hfy.2	+	16	2736	c.2596T>C	c.(2596-2598)TGT>CGT	p.C866R	CR1_uc009xcl.1_Intron|CR1_uc001hfx.2_Missense_Mutation_p.C1316R|CR1_uc009xck.1_Intron	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	866	Extracellular (Potential).|Sushi 13.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TGTTCCAGTGTGTGAACGTGA	0.413													C	207739262	T	C	207739262	3	2	55	1	0	0	0	0	1	0	0	0	3840	1696	59	3	4040	3	CR1	1	207739262	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	796022	207739262	41511359	146	41494											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209933542	209933543	+	Frame_Shift_Del	DEL	AG	AG	-													gaagacgctgaggatccaacAgagagagcagctccagagag							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:209933542_209933543delAG	uc001hho.2	+	3	448_449	c.158_159delAG	c.(157-159)CAGfs	p.Q53fs	TRAF3IP3_uc001hhl.2_Frame_Shift_Del_p.Q53fs|TRAF3IP3_uc001hhm.1_Frame_Shift_Del_p.Q53fs|TRAF3IP3_uc001hhn.2_Frame_Shift_Del_p.Q53fs|TRAF3IP3_uc009xcr.2_Frame_Shift_Del_p.Q53fs	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	53	Cytoplasmic (Potential).					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AGGATCCAACAGAGAGAGCAGC	0.619													-	209933543	AG	-	209933542	7	5	55	1	0	1	0	1	0	0	0	0	16439	188	7	0	160	0	TRAF3IP3	1	209933542	Frame_Shift_Del	DEL	AG	TCGA-BR-7851-01A-11D-2201-08	2194280	209933542	39317079	147	41495											
PTPN14	5784	broad.mit.edu	37	chr1	214557889	214557889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggttggcctgtacgaggGcacgatgatcgcgctgtgcc	18	10	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:214557889G>A	uc001hkk.1	-	13	1580	c.1309C>T	c.(1309-1311)CCC>TCC	p.P437S	PTPN14_uc010pty.1_Missense_Mutation_p.P338S	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	437					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTGTACGAGGGCACGATGATC	0.587													A	214557889	G	A	214557889	3	1	55	1	0	0	0	0	1	0	0	0	12783	1203	42	2	2282	2	PTPN14	1	214557889	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	4624347	214557889	34692732	148	41496											
USH2A	7399	broad.mit.edu	37	chr1	216073455	216073455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggaatccaagaactatgtGcactgccaaatccattggag	9	9	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:216073455G>A	uc001hku.1	-	40	7943	c.7556C>T	c.(7555-7557)GCA>GTA	p.A2519V		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2519	Extracellular (Potential).|Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAACTATGTGCACTGCCAAA	0.428										HNSCC(13;0.011)			A	216073455	G	A	216073455	3	1	55	1	0	0	0	0	1	0	0	0	17033	1319	46	2	8184	2	USH2A	1	216073455	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1515566	216073455	33177166	149	41497											
USH2A	7399	broad.mit.edu	37	chr1	216258044	216258044	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttagagcattacctgcTcctaggaactgagctccctc	7	12	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:216258044T>G	uc001hku.1	-	25	5550	c.5163A>C	c.(5161-5163)GGA>GGC	p.G1721G		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1721	Laminin G-like 2.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATTACCTGCTCCTAGGAACT	0.398										HNSCC(13;0.011)			G	216258044	T	G	216258044	2	3	55	1	0	0	0	0	0	0	0	1	17033	1538	54	5		5	USH2A	1	216258044	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	184589	216258044	32992577	150	41498											
TP53BP2	7159	broad.mit.edu	37	chr1	223976852	223976852	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacacttggacgttgttacaTgaggcagcacaatgtaatgg	11	8	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:223976852T>C	uc010pvb.1	-	16	3313	c.3021A>G	c.(3019-3021)TCA>TCG	p.S1007S	TP53BP2_uc001hod.2_Silent_p.S878S|TP53BP2_uc010puz.1_Silent_p.S240S|TP53BP2_uc010pva.1_Silent_p.S646S	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	1001	ANK 2.|Mediates interaction with APC2.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		CGTTGTTACATGAGGCAGCAC	0.463													C	223976852	T	C	223976852	2	2	55	1	0	0	0	0	0	0	0	1	16381	1451	51	3		3	TP53BP2	1	223976852	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	7718808	223976852	25273769	151	41499											
TMEM63A	9725	broad.mit.edu	37	chr1	226053631	226053631	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacagtctccttcctggcatCtctggggagtcctgtgatga	11	12	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:226053631C>A	uc001hpm.1	-	10	962	c.712G>T	c.(712-714)GAT>TAT	p.D238Y		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	238						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					TTCCTGGCATCTCTGGGGAGT	0.617													A	226053631	C	A	226053631	3	1	55	1	0	0	0	0	1	0	0	0	16187	913	32	5	1771	5	TMEM63A	1	226053631	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2076779	226053631	23196990	152	41500											
CDC42BPA	8476	broad.mit.edu	37	chr1	227259997	227259997	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctctgaatcttttagTttacttaaataaggagaaaa	5	5	3	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:227259997T>C	uc001hqr.2	-	20	3682	c.2739A>G	c.(2737-2739)AAA>AAG	p.K913K	CDC42BPA_uc001hqq.2_Silent_p.K177K|CDC42BPA_uc001hqs.2_Silent_p.K832K|CDC42BPA_uc009xes.2_Silent_p.K913K|CDC42BPA_uc010pvs.1_Silent_p.K913K|CDC42BPA_uc001hqp.2_Silent_p.K69K|CDC42BPA_uc001hqu.1_Silent_p.K69K	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	913	Potential.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				AATCTTTTAGTTTACTTAAAT	0.353													C	227259997	T	C	227259997	2	2	55	1	0	0	0	0	0	0	0	1	3072	1722	60	3		3	CDC42BPA	1	227259997	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	1206366	227259997	21990624	153	41501											
OBSCN	84033	broad.mit.edu	37	chr1	228475489	228475489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgtcatctgtggctgcGcccgtgaagtggtgctatgg	16	9	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:228475489G>A	uc009xez.1	+	36	9683	c.9639G>A	c.(9637-9639)GCG>GCA	p.A3213A	OBSCN_uc001hsn.2_Silent_p.A3213A|OBSCN_uc001hsq.1_Silent_p.A469A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3213	Ig-like 32.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CTGTGGCTGCGCCCGTGAAGT	0.637													A	228475489	G	A	228475489	2	1	55	1	0	0	0	0	0	0	0	1	10812	1074	38	1		1	OBSCN	1	228475489	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1215492	228475489	20775132	154	41502											
OBSCN	84033	broad.mit.edu	37	chr1	228494839	228494839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgtgtgacacgggccacaCgcagagcatggccagcctct	12	15	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:228494839C>T	uc009xez.1	+	45	12208	c.12164C>T	c.(12163-12165)ACG>ATG	p.T4055M	OBSCN_uc001hsn.2_Missense_Mutation_p.T4055M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4055	Ig-like 41.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				ACGGGCCACACGCAGAGCATG	0.632													T	228494839	C	T	228494839	3	4	55	1	0	0	0	0	1	0	0	0	10812	536	19	1	12338	1	OBSCN	1	228494839	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	19350	228494839	20755782	155	41503											
OBSCN	84033	broad.mit.edu	37	chr1	228538597	228538597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctttgtggagggagaggaCgcccagttcacctgcaccat	12	13	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:228538597C>T	uc009xez.1	+	77	18416	c.18372C>T	c.(18370-18372)GAC>GAT	p.D6124D	OBSCN_uc001hsn.2_Silent_p.D6124D|OBSCN_uc001hsr.1_Silent_p.D753D|OBSCN_uc009xfa.2_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6124	Ig-like 53.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGGGAGAGGACGCCCAGTTCA	0.592													T	228538597	C	T	228538597	2	4	55	1	0	0	0	0	0	0	0	1	10812	535	19	1		1	OBSCN	1	228538597	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	43758	228538597	20712024	156	41504											
GALNT2	2590	broad.mit.edu	37	chr1	230391063	230391063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcacccctacacgttccCgggtggcagtggcactgtct	12	15	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:230391063C>T	uc010pwa.1	+	11	1181	c.1109C>T	c.(1108-1110)CCG>CTG	p.P370L	GALNT2_uc010pvy.1_Missense_Mutation_p.P332L|GALNT2_uc010pvz.1_RNA	NM_004481	NP_004472	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	370	Lumenal (Potential).				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TACACGTTCCCGGGTGGCAGT	0.597													T	230391063	C	T	230391063	3	4	55	1	0	0	0	0	1	0	0	0	6213	652	23	1	1151	1	GALNT2	1	230391063	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1852466	230391063	18859558	157	41505											
PGBD5	79605	broad.mit.edu	37	chr1	230492718	230492718	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggaccttgtagagcccGtgcgtggtctggctggagcg	18	10	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:230492718G>A	uc010pwb.1	-	2	474	c.474C>T	c.(472-474)CAC>CAT	p.H158H	PGBD5_uc001htv.2_Silent_p.H257H	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	158						integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TGTAGAGCCCGTGCGTGGTCT	0.622													A	230492718	G	A	230492718	2	1	55	1	0	0	0	0	0	0	0	1	11784	1136	40	1		1	PGBD5	1	230492718	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	101655	230492718	18757903	158	41506											
TRIM67	440730	broad.mit.edu	37	chr1	231337127	231337127	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagatgctctgatcaagcgCgtccaggtgtctcaggagca	12	11	4	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:231337127C>T	uc009xfn.1	+	5	1440	c.1398C>T	c.(1396-1398)CGC>CGT	p.R466R		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	466	COS.					cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TGATCAAGCGCGTCCAGGTGT	0.537													T	231337127	C	T	231337127	2	4	55	1	0	0	0	0	0	0	0	1	16537	755	27	1		1	TRIM67	1	231337127	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	844409	231337127	17913494	159	41507											
KIAA1383	54627	broad.mit.edu	37	chr1	232942219	232942219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcttctcctgaaaaaaagCgtgtaaatcccccagcacac	6	13	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:232942219C>T	uc001hvh.2	+	1	1582	c.1450C>T	c.(1450-1452)CGT>TGT	p.R484C		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	hypothetical protein LOC54627	342										ovary(1)	1		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				TGAAAAAAAGCGTGTAAATCC	0.453													T	232942219	C	T	232942219	3	4	55	1	0	0	0	0	1	0	0	0	8228	768	27	1	1452	1	KIAA1383	1	232942219	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1605092	232942219	16308402	160	41508											
C1orf57	84284	broad.mit.edu	37	chr1	233091397	233091397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tataccgaagaagtcagacaGggagggagaagaataggatt	14	4	1	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:233091397G>A	uc001hvj.1	+	2	216	c.129G>A	c.(127-129)CAG>CAA	p.Q43Q	C1orf57_uc001hvi.2_Silent_p.Q43Q|C1orf57_uc009xft.1_Intron	NM_032324	NP_115700	Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase C1orf57	43							ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity				0		all_cancers(173;0.0818)|Prostate(94;0.137)				AAGTCAGACAGGGAGGGAGAA	0.438													A	233091397	G	A	233091397	2	1	55	1	0	0	0	0	0	0	0	1	2049	991	35	4		4	C1orf57	1	233091397	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	149178	233091397	16159224	161	41509											
KIAA1804	84451	broad.mit.edu	37	chr1	233518334	233518334	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagagaactaaatcccatgtGccttcattactggatgctga	9	9	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:233518334G>T	uc001hvt.3	+	10	3249	c.2988G>T	c.(2986-2988)GTG>GTT	p.V996V	KIAA1804_uc001hvu.3_Silent_p.V442V	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	996					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				AATCCCATGTGCCTTCATTAC	0.542													T	233518334	G	T	233518334	2	4	55	1	0	0	0	0	0	0	0	1	8259	1306	46	5		5	KIAA1804	1	233518334	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	426937	233518334	15732287	162	41510											
ARID4B	51742	broad.mit.edu	37	chr1	235345233	235345233	+	Frame_Shift_Del	DEL	T	T	-													tctgtcattgacctctactgTtttttcttcaatgggtttac							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:235345232_235345232GT>G	uc021pks.1	-	19	3379	c.3002_3002AC>C	c.(3001-3003)acafs	p.T1001fs	ARID4B_uc001hwq.3_Frame_Shift_Del_p.T1001fs|ARID4B_uc001hwr.3_Frame_Shift_Del_p.T915fs|ARID4B_uc001hws.4_Frame_Shift_Del_p.T915fs|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Frame_Shift_Del_p.T682fs	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	1001				T -> Q (in Ref. 3; AAF23433).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GACCTCTACTGTTTTTTCTTC	0.433													-	235345233	T	-	235345233	7	5	55	1	0	1	0	1	0	0	0	0	920	1725	60	0	957	0	ARID4B	1	235345233	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	1826899	235345233	13905388	163	41511											
LYST	1130	broad.mit.edu	37	chr1	235973208	235973208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactcgactctccaagttgtCgctcagactgcagcagtccc	8	15	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:235973208C>T	uc001hxj.2	-	5	1085	c.910G>A	c.(910-912)GAC>AAC	p.D304N	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.D304N	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	304					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCCAAGTTGTCGCTCAGACTG	0.478									Chediak-Higashi_syndrome				T	235973208	C	T	235973208	3	4	55	1	0	0	0	0	1	0	0	0	9128	884	31	1	10691	1	LYST	1	235973208	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	627975	235973208	13277413	164	41512											
GPR137B	7107	broad.mit.edu	37	chr1	236306034	236306034	+	Frame_Shift_Del	DEL	C	C	-													ccacgctgaccccggccgtgCccccctacgtgaagcttggc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:236306034delC	uc001hxq.2	+	1	203	c.112delC	c.(112-114)CCCfs	p.P38fs		NM_003272	NP_003263	O60478	G137B_HUMAN	G protein-coupled receptor 137B	38	Extracellular (Potential).					integral to plasma membrane|membrane fraction					0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CCCGGCCGTGCCCCCCTACGT	0.567													-	236306034	C	-	236306034	7	5	55	1	0	1	0	1	0	0	0	0	6646	739	26	0	114	0	GPR137B	1	236306034	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	332826	236306034	12944587	165	41513											
GPR137B	7107	broad.mit.edu	37	chr1	236306298	236306298	+	Frame_Shift_Del	DEL	T	T	-													gcttccctgtgtgcctgcagTttttcaccctcacgctgatg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:236306297_236306297GT>G	uc001hxq.3	+	0	466	c.375_375GT>G	c.(373-375)cagfs	p.Q125fs		NM_003272	NP_003263	O60478	G137B_HUMAN	Homo sapiens G protein-coupled receptor 137B (GPR137B), mRNA.	125						integral to plasma membrane|membrane fraction		p.Q125H(3)		endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TGTGCCTGCAGTTTTTCACCC	0.602													-	236306298	T	-	236306298	7	5	55	1	0	1	0	1	0	0	0	0	6646	1725	60	0	378	0	GPR137B	1	236306298	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	264	236306298	12944323	166	41514											
HEATR1	55127	broad.mit.edu	37	chr1	236740202	236740202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acactgaatggcagccctacGaacttcttttacggggcttc	9	12	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:236740202G>A	uc001hyd.1	-	21	2928	c.2803C>T	c.(2803-2805)CGT>TGT	p.R935C	HEATR1_uc009xgh.1_Missense_Mutation_p.R178C	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	935					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCAGCCCTACGAACTTCTTTT	0.388													A	236740202	G	A	236740202	3	1	55	1	0	0	0	0	1	0	0	0	7027	1058	37	1	3731	1	HEATR1	1	236740202	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	433904	236740202	12510419	167	41515											
ACTN2	88	broad.mit.edu	37	chr1	236899013	236899013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccacgcttttgcgggcgCggagcaggtactcaacactt	11	13	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:236899013C>T	uc001hyf.2	+	8	980	c.776C>T	c.(775-777)GCG>GTG	p.A259V	ACTN2_uc001hyg.2_Missense_Mutation_p.A14V|ACTN2_uc009xgi.1_Intron|ACTN2_uc010pxu.1_Intron	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	259					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TTTGCGGGCGCGGAGCAGGTA	0.498													T	236899013	C	T	236899013	3	4	55	1	0	0	0	0	1	0	0	0	205	768	27	1	806	1	ACTN2	1	236899013	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	158811	236899013	12351608	168	41516											
ACTN2	88	broad.mit.edu	37	chr1	236902618	236902618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcttttggaatggattcGtcgcacgatcccctggctgg	13	11	0	0	rs142482143	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:236902618G>A	uc001hyf.2	+	10	1097	c.893G>A	c.(892-894)CGT>CAT	p.R298H	ACTN2_uc001hyg.2_Missense_Mutation_p.R90H|ACTN2_uc009xgi.1_Missense_Mutation_p.R298H|ACTN2_uc010pxu.1_Intron|ACTN2_uc001hyh.2_5'UTR	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	298	Spectrin 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAATGGATTCGTCGCACGATC	0.517													A	236902618	G	A	236902618	3	1	55	1	0	0	0	0	1	0	0	0	205	1145	40	1	931	1	ACTN2	1	236902618	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3605	236902618	12348003	169	41517											
OPN3	23596	broad.mit.edu	37	chr1	241803320	241803320	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctgaggctgatgttgaccagGaggaggtgagtgggagtgcg	20	5	0	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:241803320G>C	uc001hza.2	-	1	382	c.237C>G	c.(235-237)CTC>CTG	p.L79L	OPN3_uc001hzb.2_RNA|OPN3_uc001hzc.2_RNA	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	opsin 3	79	Helical; Name=2; (Potential).				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity				0	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TGTTGACCAGGAGGAGGTGAG	0.627													C	241803320	G	C	241803320	2	2	55	1	0	0	0	0	0	0	0	1	10881	1161	41	5		5	OPN3	1	241803320	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	4900702	241803320	7447301	170	41518											
OR2M5	127059	broad.mit.edu	37	chr1	248309326	248309326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccctcatctacagcctcCgcaacaaggaggtgaccaga	8	15	2	2	rs150445512	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:248309326C>T	uc010pze.1	+	1	877	c.877C>T	c.(877-879)CGC>TGC	p.R293C		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	293	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CTACAGCCTCCGCAACAAGGA	0.493													T	248309326	C	T	248309326	3	4	55	1	0	0	0	0	1	0	0	0	11013	652	23	1	879	1	OR2M5	1	248309326	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	6506006	248309326	941295	171	41519											
SH3BP5L	80851	broad.mit.edu	37	chr1	249106454	249106454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggggaggcagacccccgCggcgccgtgcgtgaatctgc	18	13	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:249106454C>T	uc001iew.1	-	7	1379	c.827G>A	c.(826-828)CGC>CAC	p.R276H	SH3BP5L_uc010pzp.1_Missense_Mutation_p.R169H|SH3BP5L_uc010pzq.1_Missense_Mutation_p.R244H|SH3BP5L_uc001iev.1_Missense_Mutation_p.R157H	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	276											0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CAGACCCCCGCGGCGCCGTGC	0.687													T	249106454	C	T	249106454	3	4	55	1	0	0	0	0	1	0	0	0	14248	768	27	1	358	1	SH3BP5L	1	249106454	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	797128	249106454	144167	172	41520											
PXDN	7837	broad.mit.edu	37	chr2	1639246	1639246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcgtgagattcgcccccGgcatccacgcactctgtggt	12	14	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:1639246G>A	uc002qxa.2	-	22	4318	c.4254C>T	c.(4252-4254)GCC>GCT	p.A1418A		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1418	VWFC.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATTCGCCCCCGGCATCCACGC	0.468													A	1639246	G	A	1639246	2	1	55	1	0	0	0	0	0	0	0	1	12847	1103	39	1		1	PXDN	2	1639246	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08		1639246	241560127	173	41521											
TSSC1	7260	broad.mit.edu	37	chr2	3196254	3196254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaagtggccgaagggctccGacgagatggacaccatgttg	14	11	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:3196254G>A	uc002qxj.2	-	8	1113	c.920C>T	c.(919-921)TCG>TTG	p.S307L	TSSC1_uc002qxi.2_RNA	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	307	WD 4.						protein binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GAAGGGCTCCGACGAGATGGA	0.577													A	3196254	G	A	3196254	3	1	55	1	0	0	0	0	1	0	0	0	16663	1059	37	1	251	1	TSSC1	2	3196254	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1557008	3196254	240003119	174	41522											
ASAP2	8853	broad.mit.edu	37	chr2	9463332	9463332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taagcggagcggaaattgccGaagagatggaaaaggagagg	17	4	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:9463332G>A	uc002qzh.2	+	6	893	c.553G>A	c.(553-555)GAA>AAA	p.E185K	ASAP2_uc002qzi.2_Missense_Mutation_p.E185K	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	185					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						GGAAATTGCCGAAGAGATGGA	0.537													A	9463332	G	A	9463332	3	1	55	1	0	0	0	0	1	0	0	0	1011	1059	37	1	575	1	ASAP2	2	9463332	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	6267078	9463332	233736041	175	41523											
CPSF3	51692	broad.mit.edu	37	chr2	9581993	9581993	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcccagtgttgtaatggcctCcccaggcatgatgcaaagtg	11	11	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:9581993C>A	uc002qzo.1	+	9	1018	c.983C>A	c.(982-984)TCC>TAC	p.S328Y	CPSF3_uc010ewx.1_Missense_Mutation_p.S328Y|CPSF3_uc002qzp.1_Missense_Mutation_p.S291Y	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3,	328					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			breast(2)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GTAATGGCCTCCCCAGGCATG	0.433													A	9581993	C	A	9581993	3	1	55	1	0	0	0	0	1	0	0	0	3826	855	30	5	1017	5	CPSF3	2	9581993	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	118661	9581993	233617380	176	41524											
NBAS	51594	broad.mit.edu	37	chr2	15694199	15694199	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttaccttgcaagtaccaaAtgccagtttatctgtttatt	5	10	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:15694199A>G	uc002rcc.1	-	4	299	c.273T>C	c.(271-273)CAT>CAC	p.H91H	NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	91										ovary(2)|liver(1)|skin(1)	4						CAAGTACCAAATGCCAGTTTA	0.373													G	15694199	A	G	15694199	2	3	55	1	0	0	0	0	0	0	0	1	10186	98	4	3		3	NBAS	2	15694199	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	6112206	15694199	227505174	177	41525											
SMC6	79677	broad.mit.edu	37	chr2	17877642	17877642	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttttcttcataatgtcGtttccctcgtttttggttat	6	7	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:17877642G>A	uc002rco.2	-	22	2742	c.2446C>T	c.(2446-2448)CGA>TGA	p.R816*	SMC6_uc010exo.2_Nonsense_Mutation_p.R816*|SMC6_uc002rcn.2_Nonsense_Mutation_p.R816*|SMC6_uc002rcp.1_Nonsense_Mutation_p.R842*	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	816	Potential.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCATAATGTCGTTTCCCTCGT	0.318													A	17877642	G	A	17877642	4	1	55	1	0	0	0	0	0	1	0	0	14787	1153	40	1	857	1	SMC6	2	17877642	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2183443	17877642	225321731	178	41526											
GEN1	348654	broad.mit.edu	37	chr2	17946245	17946245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtgtgcttatctcaatGctggtggtcatgtcgatggc	12	9	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:17946245G>A	uc002rct.2	+	4	503	c.430G>A	c.(430-432)GCT>ACT	p.A144T	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.A144T|GEN1_uc002rcu.2_Missense_Mutation_p.A144T	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	144	I-domain.				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTATCTCAATGCTGGTGGTCA	0.473								Homologous_recombination					A	17946245	G	A	17946245	3	1	55	1	0	0	0	0	1	0	0	0	6335	1319	46	2	440	2	GEN1	2	17946245	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	68603	17946245	225253128	179	41527											
SDC1	6382	broad.mit.edu	37	chr2	20402653	20402653	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagcatgaaacccaccagGcacacagcaaagatgagccc	8	14	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:20402653G>A	uc002rdo.1	-	5	1106	c.807C>T	c.(805-807)TGC>TGT	p.C269C	SDC1_uc002rdp.1_Silent_p.C269C|SDC1_uc010exv.2_Intron	NM_002997	NP_002988	P18827	SDC1_HUMAN	syndecan 1 precursor	269	Helical; (Potential).				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			ovary(4)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		AACCCACCAGGCACACAGCAA	0.617													A	20402653	G	A	20402653	2	1	55	1	0	0	0	0	0	0	0	1	13951	1195	42	2		2	SDC1	2	20402653	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2456408	20402653	222796720	180	41528											
APOB	338	broad.mit.edu	37	chr2	21227276	21227276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtagcgcagatggagatcGgtgaacgctgggcttttgat	16	6	0	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:21227276G>A	uc002red.2	-	28	12080	c.11952C>T	c.(11950-11952)ACC>ACT	p.T3984T		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3984					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GATGGAGATCGGTGAACGCTG	0.512													A	21227276	G	A	21227276	2	1	55	1	0	0	0	0	0	0	0	1	785	1103	39	1		1	APOB	2	21227276	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	824623	21227276	221972097	181	41529											
APOB	338	broad.mit.edu	37	chr2	21260067	21260067	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtggatatttctgttgCcacattgcccttcctcgtct	7	12	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:21260067C>A	uc002red.2	-	6	726	c.598G>T	c.(598-600)GCA>TCA	p.A200S		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	200	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATTTCTGTTGCCACATTGCCC	0.502													A	21260067	C	A	21260067	3	1	55	1	0	0	0	0	1	0	0	0	785	739	26	5	13189	5	APOB	2	21260067	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	32791	21260067	221939306	182	41530											
DPYSL5	56896	broad.mit.edu	37	chr2	27164917	27164917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagggccgcattattcccGgagccgatgctgatgtggtg	15	10	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:27164917G>A	uc002rhu.3	+	10	1347	c.1189G>A	c.(1189-1191)GGA>AGA	p.G397R	DPYSL5_uc002rhv.3_Missense_Mutation_p.G397R	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	397					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTATTCCCGGAGCCGATGC	0.532											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	27164917	G	A	27164917	3	1	55	1	0	0	0	0	1	0	0	0	4750	1117	39	1	1223	1	DPYSL5	2	27164917	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5904850	27164917	216034456	183	41531											
TMEM214	54867	broad.mit.edu	37	chr2	27263303	27263303	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagaatgtgctgctgccaCtgtggcacctcttgcttgag	11	12	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:27263303C>T	uc002ria.3	+	16	1992	c.1882C>T	c.(1882-1884)CTG>TTG	p.L628L	TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Silent_p.L583L	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	transmembrane protein 214 isoform 1	628	Helical; (Potential).					integral to membrane	protein binding				0						GCTGCTGCCACTGTGGCACCT	0.612													T	27263303	C	T	27263303	2	4	55	1	0	0	0	0	0	0	0	1	16134	564	20	4		4	TMEM214	2	27263303	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	98386	27263303	215936070	184	41532											
KHK	3795	broad.mit.edu	37	chr2	27317386	27317386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctattctgtggacctacGctacacagtctttcagacca	7	14	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:27317386G>A	uc002ril.2	+	3	768	c.251G>A	c.(250-252)CGC>CAC	p.R84H	KHK_uc002rim.2_Intron|KHK_uc002rin.2_Missense_Mutation_p.R85H|KHK_uc002rio.2_Intron	NM_000221	NP_000212	P50053	KHK_HUMAN	ketohexokinase isoform a	84					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGACCTACGCTACACAGTC	0.562													A	27317386	G	A	27317386	3	1	55	1	0	0	0	0	1	0	0	0	8149	1087	38	1	261	1	KHK	2	27317386	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	54083	27317386	215881987	185	41533											
SLC5A6	8884	broad.mit.edu	37	chr2	27430334	27430334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcccattttgcggtccGccatcagcagctcaccaaca	9	16	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:27430334G>A	uc002rjd.2	-	3	576	c.185C>T	c.(184-186)GCG>GTG	p.A62V	SLC5A6_uc010eyv.1_Missense_Mutation_p.A62V|SLC5A6_uc002rje.1_Missense_Mutation_p.A62V	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	62					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	TTTGCGGTCCGCCATCAGCAG	0.597													A	27430334	G	A	27430334	3	1	55	1	0	0	0	0	1	0	0	0	14669	1087	38	1	1782	1	SLC5A6	2	27430334	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	112948	27430334	215769039	186	41534											
DNAJC5G	285126	broad.mit.edu	37	chr2	27500791	27500791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctaagaagcggaaaatttacGaccagcatggctcattggga	11	8	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:27500791G>A	uc002rjl.1	+	4	701	c.283G>A	c.(283-285)GAC>AAC	p.D95N	SLC30A3_uc010ylh.1_5'Flank|DNAJC5G_uc010yli.1_Intron|DNAJC5G_uc002rjm.1_Missense_Mutation_p.D95N	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	95	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			skin(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAAATTTACGACCAGCATGG	0.418													A	27500791	G	A	27500791	3	1	55	1	0	0	0	0	1	0	0	0	4652	1058	37	1	289	1	DNAJC5G	2	27500791	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	70457	27500791	215698582	187	41535											
PLB1	151056	broad.mit.edu	37	chr2	28815550	28815550	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgccctgagacctgcagaCatccaagttgtggctgctct	10	13	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:28815550C>T	uc002rmb.1	+	32	2211	c.2211C>T	c.(2209-2211)GAC>GAT	p.D737D	PLB1_uc010ezj.1_Silent_p.D726D|PLB1_uc002rmc.2_Silent_p.D425D|PLB1_uc002rmd.1_Silent_p.D247D	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	737	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|3.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					GACCTGCAGACATCCAAGTTG	0.562													T	28815550	C	T	28815550	2	4	55	1	0	0	0	0	0	0	0	1	12024	477	17	4		4	PLB1	2	28815550	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1314759	28815550	214383823	188	41536											
ALK	238	broad.mit.edu	37	chr2	29416300	29416300	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaggagcagtgaggccccCggaagtctcccagttgcaac	12	13	2	1	rs35500880		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:29416300C>T	uc002rmy.2	-	29	5560	c.4653G>A	c.(4651-4653)CCG>CCA	p.P1551P	ALK_uc010ymo.1_Silent_p.P483P	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	1551	Cytoplasmic (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GTGAGGCCCCCGGAAGTCTCC	0.537			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				T	29416300	C	T	29416300	2	4	55	1	0	0	0	0	0	0	0	1	525	639	23	1		1	ALK	2	29416300	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	600750	29416300	213783073	189	41537											
LCLAT1	253558	broad.mit.edu	37	chr2	30756096	30756096	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagaatggactggatgttcCtgtggaattgcctgatgcga	13	7	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:30756096C>A	uc002rnj.2	+	4	603	c.394C>A	c.(394-396)CTG>ATG	p.L132M	LCLAT1_uc010ymp.1_Translation_Start_Site|LCLAT1_uc002rnk.1_Missense_Mutation_p.L132M|LCLAT1_uc002rnl.2_Missense_Mutation_p.L94M|LCLAT1_uc010ymq.1_Missense_Mutation_p.L94M	NM_182551	NP_872357	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1 isoform 1	132					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			ovary(2)	2						CTGGATGTTCCTGTGGAATTG	0.418													A	30756096	C	A	30756096	3	1	55	1	0	0	0	0	1	0	0	0	8677	680	24	5	404	5	LCLAT1	2	30756096	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1339796	30756096	212443277	190	41538											
BIRC6	57448	broad.mit.edu	37	chr2	32640462	32640462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccaaccttacctctccGgattctgagaagtggaactc	9	13	2	1	rs142938281		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:32640462G>A	uc010ezu.2	+	10	2237	c.2103G>A	c.(2101-2103)CCG>CCA	p.P701P		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	701					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TTACCTCTCCGGATTCTGAGA	0.473													A	32640462	G	A	32640462	2	1	55	1	0	0	0	0	0	0	0	1	1438	1103	39	1		1	BIRC6	2	32640462	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1884366	32640462	210558911	191	41539											
BIRC6	57448	broad.mit.edu	37	chr2	32750641	32750641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacttcaggagcagaggctGccaacaaaataattactgtc	9	9	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:32750641G>A	uc010ezu.2	+	59	12000	c.11866G>A	c.(11866-11868)GCC>ACC	p.A3956T		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3956					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					AGCAGAGGCTGCCAACAAAAT	0.433													A	32750641	G	A	32750641	3	1	55	1	0	0	0	0	1	0	0	0	1438	1319	46	2	12100	2	BIRC6	2	32750641	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	110179	32750641	210448732	192	41540											
FAM98A	25940	broad.mit.edu	37	chr2	33813525	33813525	+	Frame_Shift_Del	DEL	T	T	-													ctaccgcctccttcttgagcTttttttggaggagcattcac							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:33813524_33813524CT>C	uc002rpa.1	-	3	474	c.400_400AG>G	c.(400-402)gctfs	p.A134fs	FAM98A_uc010yne.1_Intron|FAM98A_uc010ynd.1_5'Flank|FAM98A_uc002roz.1_Frame_Shift_Del_p.A11fs	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	Homo sapiens family with sequence similarity 98, member A (FAM98A), mRNA.	134										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CCTTCTTGAGCTTTTTTTGGA	0.398													-	33813525	T	-	33813525	7	5	55	1	0	1	0	1	0	0	0	0	5656	1606	56	0	1177	0	FAM98A	2	33813525	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	1062884	33813525	209385848	193	41541											
CRIM1	51232	broad.mit.edu	37	chr2	36771623	36771623	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacgcctagtgaaaatgatAtcgtccatctccctagaggt	8	12	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:36771623A>G	uc002rpd.2	+	15	2767	c.2728A>G	c.(2728-2730)ATC>GTC	p.I910V		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	910	Extracellular (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TGAAAATGATATCGTCCATCT	0.438													G	36771623	A	G	36771623	3	3	55	1	0	0	0	0	1	0	0	0	3873	449	16	3	2786	3	CRIM1	2	36771623	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	2958098	36771623	206427750	194	41542											
EIF2AK2	5610	broad.mit.edu	37	chr2	37347260	37347260	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcacagaattccatttggaTgaaaaggcacttagtctttg	8	7	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:37347260T>C	uc010ynh.1	-	13	1647	c.1090A>G	c.(1090-1092)ATC>GTC	p.I364V	EIF2AK2_uc010fab.1_Missense_Mutation_p.I323V|EIF2AK2_uc010yng.1_Missense_Mutation_p.I364V|EIF2AK2_uc010fac.2_Missense_Mutation_p.I364V|EIF2AK2_uc010fad.2_Missense_Mutation_p.I311V	NM_002759	NP_002750	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha	364	Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			ovary(2)|lung(2)|pancreas(1)	5		all_hematologic(82;0.248)				TCCATTTGGATGAAAAGGCAC	0.289													C	37347260	T	C	37347260	3	2	55	1	0	0	0	0	1	0	0	0	4997	1464	51	3	585	3	EIF2AK2	2	37347260	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	575637	37347260	205852113	195	41543											
PRKD3	23683	broad.mit.edu	37	chr2	37520360	37520360	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgttttctgagttcatgtCatggcgaaagagaagaattt	10	4	3	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:37520360C>T	uc002rqd.2	-	2	898	c.343G>A	c.(343-345)GAC>AAC	p.D115N	PRKD3_uc002rqf.1_Missense_Mutation_p.D115N	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	115					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				GAGTTCATGTCATGGCGAAAG	0.388													T	37520360	C	T	37520360	3	4	55	1	0	0	0	0	1	0	0	0	12520	826	29	4	2397	4	PRKD3	2	37520360	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	173100	37520360	205679013	196	41544											
PKDCC	91461	broad.mit.edu	37	chr2	42282097	42282097	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaggtttttcttcacatacCtcctgcctcacagtgccccg	6	16	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:42282097C>A	uc002rsg.2	+	4	1230	c.1051C>A	c.(1051-1053)CTC>ATC	p.L351I		NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN	protein kinase-like protein SgK493	351	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(1)	1						CTTCACATACCTCCTGCCTCA	0.572													A	42282097	C	A	42282097	3	1	55	1	0	0	0	0	1	0	0	0	11969	681	24	5	1065	5	PKDCC	2	42282097	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	4761737	42282097	200917276	197	41545											
PLEKHH2	130271	broad.mit.edu	37	chr2	43973086	43973086	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaggtacaaggactgttcgtCtgacatacaaaaacaggtgt	10	7	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:43973086C>T	uc010yny.1	+	24	3720	c.3637C>T	c.(3637-3639)CTG>TTG	p.L1213L		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	1213	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GACTGTTCGTCTGACATACAA	0.368													T	43973086	C	T	43973086	2	4	55	1	0	0	0	0	0	0	0	1	12077	912	32	4		4	PLEKHH2	2	43973086	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1690989	43973086	199226287	198	41546											
SPTBN1	6711	broad.mit.edu	37	chr2	54858182	54858182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcagcgcaagctgaccGgcatggagcgggacttggtg	16	12	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:54858182G>A	uc002rxu.2	+	16	3247	c.2998G>A	c.(2998-3000)GGC>AGC	p.G1000S	SPTBN1_uc002rxx.2_Missense_Mutation_p.G987S	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1000	Spectrin 7.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			CAAGCTGACCGGCATGGAGCG	0.617													A	54858182	G	A	54858182	3	1	55	1	0	0	0	0	1	0	0	0	15118	1116	39	1	3169	1	SPTBN1	2	54858182	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	10885096	54858182	188341191	199	41547											
FANCL	55120	broad.mit.edu	37	chr2	58431275	58431275	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcacatacctttgccttcAacttgagagtgattaaatgc	8	9	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:58431275A>G	uc002rzw.3	-	6	528	c.461T>C	c.(460-462)TTG>TCG	p.L154S	FANCL_uc002rzx.3_Missense_Mutation_p.L154S|FANCL_uc010fce.2_Missense_Mutation_p.L154S|FANCL_uc010fcf.1_Missense_Mutation_p.L95S	NM_018062	NP_060532	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L isoform	154					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						CTTTGCCTTCAACTTGAGAGT	0.398								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				G	58431275	A	G	58431275	3	3	55	1	0	0	0	0	1	0	0	0	5670	131	5	3	717	3	FANCL	2	58431275	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	3573093	58431275	184768098	200	41548											
PEX13	5194	broad.mit.edu	37	chr2	61259029	61259029	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattggttaggactatacggTatctttacagacggctacag	10	8	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:61259029T>C	uc002sau.3	+	2	651	c.568T>C	c.(568-570)TAT>CAT	p.Y190H		NM_002618	NP_002609	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	190	Targeting to peroxisomes.|Lumenal (Potential).|Interaction with PEX19.				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			GACTATACGGTATCTTTACAG	0.438													C	61259029	T	C	61259029	3	2	55	1	0	0	0	0	1	0	0	0	11741	1638	57	3	574	3	PEX13	2	61259029	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	2827754	61259029	181940344	201	41549											
ANXA4	307	broad.mit.edu	37	chr2	70037735	70037735	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcttgctagaatatggacGgagccttgaagatgacattc	10	8	1	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:70037735G>T	uc002sfr.3	+	7	634	c.407G>T	c.(406-408)CGG>CTG	p.R136L	ANXA4_uc010yqn.1_RNA|ANXA4_uc002sfs.3_Missense_Mutation_p.R114L|ANXA4_uc010yqo.1_Missense_Mutation_p.R52L	NM_001153	NP_001144	P09525	ANXA4_HUMAN	annexin IV	134	Annexin 2.				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity				0						GAATATGGACGGAGCCTTGAA	0.507													T	70037735	G	T	70037735	3	4	55	1	0	0	0	0	1	0	0	0	720	1116	39	5	429	5	ANXA4	2	70037735	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	8778706	70037735	173161638	202	41550											
ZNF638	27332	broad.mit.edu	37	chr2	71577133	71577133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgtaagccagcaagagcGgatcccacatgaacctgtga	10	11	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:71577133G>A	uc002shx.2	+	2	1368	c.1049G>A	c.(1048-1050)CGG>CAG	p.R350Q	ZNF638_uc010fec.2_Missense_Mutation_p.R456Q|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.R350Q|ZNF638_uc002shy.2_Missense_Mutation_p.R350Q|ZNF638_uc002shz.2_Missense_Mutation_p.R350Q|ZNF638_uc002sia.2_Missense_Mutation_p.R350Q|ZNF638_uc002sib.1_Missense_Mutation_p.R350Q	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	350					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	p.R350Q(1)		pancreas(2)|ovary(1)|skin(1)	4						CAGCAAGAGCGGATCCCACAT	0.418													A	71577133	G	A	71577133	3	1	55	1	0	0	0	0	1	0	0	0	18052	1116	39	1	1051	1	ZNF638	2	71577133	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1539398	71577133	171622240	203	41551											
FBXO41	150726	broad.mit.edu	37	chr2	73487618	73487618	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agacctctgctgccacctccTgggtgatctctgacacgtgg	11	14	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:73487618T>G	uc002sjb.1	-	11	2531	c.2531A>C	c.(2530-2532)CAG>CCG	p.Q844P		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	783						intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						TGCCACCTCCTGGGTGATCTC	0.612													G	73487618	T	G	73487618	3	3	55	1	0	0	0	0	1	0	0	0	5750	1580	55	5	291	5	FBXO41	2	73487618	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	1910485	73487618	169711755	204	41552											
ALMS1	7840	broad.mit.edu	37	chr2	73800368	73800368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttccactattgacactgcCcggctgattcaagcttttgg	9	11	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:73800368C>T	uc002sje.1	+	18	11478	c.11367C>T	c.(11365-11367)GCC>GCT	p.A3789A	ALMS1_uc002sjf.1_Silent_p.A3745A|ALMS1_uc002sjg.2_Silent_p.A3175A|ALMS1_uc002sjh.1_Silent_p.A3175A	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3787					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						TTGACACTGCCCGGCTGATTC	0.458													T	73800368	C	T	73800368	2	4	55	1	0	0	0	0	0	0	0	1	535	610	22	4		4	ALMS1	2	73800368	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	312750	73800368	169399005	205	41553											
C2orf78	388960	broad.mit.edu	37	chr2	74044060	74044060	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctctttggggaaagtgcagTttttcattgaaagggaaaga	12	5	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:74044060T>A	uc002sjr.1	+	3	2831	c.2710T>A	c.(2710-2712)TTT>ATT	p.F904I		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	904										ovary(2)	2						GAAAGTGCAGTTTTTCATTGA	0.438													A	74044060	T	A	74044060	3	1	55	1	0	0	0	0	1	0	0	0	2195	1725	60	5	2720	5	C2orf78	2	74044060	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	243692	74044060	169155313	206	41554											
TET3	200424	broad.mit.edu	37	chr2	74307623	74307623	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcttctgtctccctcttcAggtatggagagaaggggaaa	13	8	4	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:74307623A>G	uc002skb.3	+	3	2181	c.2181_splice	c.e3-2	p.R727_splice		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3								metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CTCCCTCTTCAGGTATGGAGA	0.527													G	74307623	A	G	74307623	5	3	55	1	0	0	0	0	0	0	1	0	15768	202	7	3	2189	3	TET3	2	74307623	Splice_Site	SNP	A	TCGA-BR-7851-01A-11D-2201-08	263563	74307623	168891750	207	41555											
DCTN1	1639	broad.mit.edu	37	chr2	74592756	74592756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctccaggaggctcagcCgcacattggcctcacttagc	9	15	4	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:74592756C>T	uc002skx.2	-	25	3226	c.2915G>A	c.(2914-2916)CGG>CAG	p.R972Q	SLC4A5_uc002skl.2_5'Flank|DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Missense_Mutation_p.R838Q|DCTN1_uc002sku.2_Missense_Mutation_p.R838Q|DCTN1_uc002skw.1_Missense_Mutation_p.R948Q|DCTN1_uc010ffd.2_Missense_Mutation_p.R952Q|DCTN1_uc002sky.2_Missense_Mutation_p.R935Q	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	972	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						GAGGCTCAGCCGCACATTGGC	0.577													T	74592756	C	T	74592756	3	4	55	1	0	0	0	0	1	0	0	0	4306	652	23	1	953	1	DCTN1	2	74592756	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	285133	74592756	168606617	208	41556											
SEMA4F	10505	broad.mit.edu	37	chr2	74907036	74907036	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcttcttcttggggattctCgcagcatccctgactctcat	9	13	4	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:74907036C>T	uc002sna.1	+	14	2124	c.2013C>T	c.(2011-2013)CTC>CTT	p.L671L	SEMA4F_uc010ffr.1_Silent_p.L283L|SEMA4F_uc002snb.1_Silent_p.L283L|SEMA4F_uc002snc.1_Silent_p.L516L	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	671	Helical; (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4						TGGGGATTCTCGCAGCATCCC	0.627													T	74907036	C	T	74907036	2	4	55	1	0	0	0	0	0	0	0	1	14035	871	31	1		1	SEMA4F	2	74907036	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	314280	74907036	168292337	209	41557											
REG1A	5967	broad.mit.edu	37	chr2	79349995	79349995	+	Frame_Shift_Del	DEL	C	C	-													ctggcactggagcagtgggtCcctggtctcctacaagtcct							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:79349994_79349994TC>T	uc010ysd.2	+	3	416	c.349_349TC>T	c.(349-351)tccfs	p.S117fs	REG1A_uc002snz.3_Frame_Shift_Del_p.S117fs	NM_002909	NP_002900	P05451	REG1A_HUMAN	Homo sapiens regenerating islet-derived 1 alpha (REG1A), mRNA.	117	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GAGCAGTGGGTCCCTGGTCTC	0.562													-	79349995	C	-	79349995	7	5	55	1	0	1	0	1	0	0	0	0	13210	855	30	0	364	0	REG1A	2	79349995	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	4442959	79349995	163849378	210	41558											
CD8A	925	broad.mit.edu	37	chr2	87016520	87016520	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggccaagggcgcccagatgTagatatcacaggcgaagtcc	13	12	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:87016520T>C	uc002srt.2	-	4	1440	c.551A>G	c.(550-552)TAC>TGC	p.Y184C	RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.Y184C|CD8A_uc010ytn.1_Missense_Mutation_p.Y225C|CD8A_uc002sru.2_Intron	NM_001768	NP_001759	P01732	CD8A_HUMAN	CD8 antigen alpha polypeptide isoform 1	184	Helical; (Potential).				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			ovary(1)	1						CGCCCAGATGTAGATATCACA	0.612													C	87016520	T	C	87016520	3	2	55	1	0	0	0	0	1	0	0	0	3044	1638	57	3	168	3	CD8A	2	87016520	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	7666525	87016520	156182853	211	41559											
RPIA	22934	broad.mit.edu	37	chr2	89036155	89036156	+	Frame_Shift_Ins	INS	-	-	G													agctgtgagccagaagtttgINSggggcgtggttgaacttcga							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:89036154_89036155T>TG	uc002ste.3	+	6	740_741	c.699_700T>TG	c.(697-702)tttgggfs	p.F233fs		NM_144563	NP_653164	P49247	RPIA_HUMAN	Homo sapiens ribose 5-phosphate isomerase A (RPIA), mRNA.	233					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				GCCAGAAGTTTGGGGGCGTGGT	0.569													G	89036156	-	G	89036155	7	5	55	1	0	1	1	0	0	0	0	0	13553	1348	47	0	726	0	RPIA	2	89036155	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	2019635	89036155	154163218	212	41560											
ZNF2	7549	broad.mit.edu	37	chr2	95847120	95847120	+	Frame_Shift_Del	DEL	T	T	-													gcagtgactgtgggaagaccTtttttgaccactcatccctc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:95847119_95847119CT>C	uc002suf.3	+	4	1008	c.546_546CT>C	c.(544-546)accfs	p.T182fs	ZNF2_uc002sug.3_Frame_Shift_Del_p.T140fs|ZNF2_uc010yue.2_Frame_Shift_Del_p.T144fs|ZNF2_uc010fhs.3_Frame_Shift_Del_p.T102fs	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA.	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		GTGGGAAGACCTTTTTTGACC	0.587													-	95847120	T	-	95847120	7	5	55	1	0	1	0	1	0	0	0	0	17757	1609	56	0	561	0	ZNF2	2	95847120	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	6810965	95847120	147352253	213	41561											
ITPRIPL1	150771	broad.mit.edu	37	chr2	96993744	96993744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcatgcacctcttgctaCggctgcccctcacggactgg	9	17	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:96993744C>T	uc002svx.2	+	3	1710	c.1375C>T	c.(1375-1377)CGG>TGG	p.R459W	ITPRIPL1_uc010yuk.1_Missense_Mutation_p.R451W|ITPRIPL1_uc002svy.2_Missense_Mutation_p.R467W|ITPRIPL1_uc010yul.1_Missense_Mutation_p.R451W	NM_001008949	NP_001008949	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-triphosphate receptor interacting	459	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(2)|ovary(1)	3						CCTCTTGCTACGGCTGCCCCT	0.562													T	96993744	C	T	96993744	3	4	55	1	0	0	0	0	1	0	0	0	7924	527	19	1	1415	1	ITPRIPL1	2	96993744	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1146624	96993744	146205629	214	41562											
FER1L5	90342	broad.mit.edu	37	chr2	97368926	97368926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtctgacatgcccctccCggctcggcacgccaagcagt	10	16	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:97368926C>T	uc010fia.2	+	49	5642	c.5642C>T	c.(5641-5643)CCG>CTG	p.P1881L	FER1L5_uc002sws.3_Missense_Mutation_p.P590L|FER1L5_uc002swt.3_Missense_Mutation_p.P590L|FER1L5_uc010yus.1_Missense_Mutation_p.P589L	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	1881						integral to membrane				ovary(1)	1						ATGCCCCTCCCGGCTCGGCAC	0.552													T	97368926	C	T	97368926	3	4	55	1	0	0	0	0	1	0	0	0	5814	652	23	1	5836	1	FER1L5	2	97368926	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	375182	97368926	145830447	215	41563											
TMEM131	23505	broad.mit.edu	37	chr2	98376193	98376193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggctgcttgggttgctgaCgggactccacaaacccgagc	14	12	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:98376193C>T	uc002syh.3	-	39	5357	c.5128G>A	c.(5128-5130)GTC>ATC	p.V1710I	TMEM131_uc002syg.2_Missense_Mutation_p.V90I	NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1710	Ser-rich.					integral to membrane				ovary(4)|central_nervous_system(2)	6						GGGTTGCTGACGGGACTCCAC	0.458													T	98376193	C	T	98376193	3	4	55	1	0	0	0	0	1	0	0	0	16041	536	19	1	535	1	TMEM131	2	98376193	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1007267	98376193	144823180	216	41564											
VWA3B	200403	broad.mit.edu	37	chr2	98928687	98928687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacctccacttccccgcgGccgggcgtctaggactcagc	10	20	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:98928687G>A	uc002syo.2	+	28	4024	c.3760G>A	c.(3760-3762)GCC>ACC	p.A1254T	VWA3B_uc002syr.1_Silent_p.R626R|VWA3B_uc002sys.2_RNA	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1254										ovary(3)|large_intestine(2)|skin(1)	6						CTTCCCCGCGGCCGGGCGTCT	0.597													A	98928687	G	A	98928687	3	1	55	1	0	0	0	0	1	0	0	0	17238	1203	42	2	3866	2	VWA3B	2	98928687	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	552494	98928687	144270686	217	41565											
NMS	129521	broad.mit.edu	37	chr2	101090004	101090004	+	Splice_Site	DEL	A	A	-													ctttctcgccaacctaaggtAaaaaaatgtgtatatatata							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:101090003_101090003TA>T	uc002tan.1	+	3	190	c.183_splice	c.e3+2	p.K61_splice		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	Homo sapiens neuromedin S (NMS), mRNA.	61					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CAACCTAAGGTAAAAAAatgt	0.343													-	101090004	A	-	101090004	8	5	55	1	0	1	0	1	0	0	1	0	10502	377	13	0		0	NMS	2	101090004	Splice_Site	DEL	A	TCGA-BR-7851-01A-11D-2201-08	2161317	101090004	142109369	218	41566											
MFSD9	84804	broad.mit.edu	37	chr2	103340288	103340288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggctgtgttgaagtgtcCgattacaagcggccgttcct	14	9	0	1	rs151282750	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:103340288C>T	uc002tcb.2	-	5	576	c.508G>A	c.(508-510)GGA>AGA	p.G170R	MFSD9_uc010fja.2_RNA	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing	170	Helical; (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity			ovary(2)|breast(2)	4						TTGAAGTGTCCGATTACAAGC	0.498													T	103340288	C	T	103340288	3	4	55	1	0	0	0	0	1	0	0	0	9539	661	23	1	924	1	MFSD9	2	103340288	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2250284	103340288	139859085	219	41567											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105885907	105885907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcaaattcggtggcgtggCggttcagcaggtccacggca	14	11	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:105885907C>T	uc002tcq.2	-	11	2312	c.2228G>A	c.(2227-2229)CGC>CAC	p.R743H	TGFBRAP1_uc010fjc.2_Missense_Mutation_p.R512H|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.R743H	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor	743					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|skin(1)	2						GGTGGCGTGGCGGTTCAGCAG	0.647													T	105885907	C	T	105885907	3	4	55	1	0	0	0	0	1	0	0	0	15821	768	27	1	362	1	TGFBRAP1	2	105885907	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2545619	105885907	137313466	220	41568											
SULT1C3	442038	broad.mit.edu	37	chr2	108863670	108863670	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatggcgaagattgagaaaaAcgctcccacgatggaaaaaa	10	7	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:108863670A>G	uc010ywo.1	+	1	20	c.20A>G	c.(19-21)AAC>AGC	p.N7S		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member	7						cytoplasm	alcohol sulfotransferase activity			skin(1)	1						ATTGAGAAAAACGCTCCCACG	0.348													G	108863670	A	G	108863670	3	3	55	1	0	0	0	0	1	0	0	0	15375	43	2	3	22	3	SULT1C3	2	108863670	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	2977763	108863670	134335703	221	41569											
CCDC138	165055	broad.mit.edu	37	chr2	109405348	109405348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagataaagttggttcatcGttaaaatattctgatgaaag	10	3	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:109405348G>A	uc002ten.1	+	3	252	c.192G>A	c.(190-192)TCG>TCA	p.S64S	CCDC138_uc002teo.1_Silent_p.S64S|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	64											0						TTGGTTCATCGTTAAAATATT	0.358													A	109405348	G	A	109405348	2	1	55	1	0	0	0	0	0	0	0	1	2772	1132	40	1		1	CCDC138	2	109405348	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	541678	109405348	133794025	222	41570											
ACOXL	55289	broad.mit.edu	37	chr2	111789258	111789258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaactcgtgtctgcaccacGtggcttctctgtccctggca	11	14	2	0	rs151050088		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:111789258G>A	uc002tgr.3	+	16	1650	c.1426G>A	c.(1426-1428)GTG>ATG	p.V476M	ACOXL_uc010fkc.2_Missense_Mutation_p.V446M|ACOXL_uc010yxk.1_Missense_Mutation_p.V446M	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN	acyl-Coenzyme A oxidase-like 2	476					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity				0						TCTGCACCACGTGGCTTCTCT	0.488													A	111789258	G	A	111789258	3	1	55	1	0	0	0	0	1	0	0	0	161	1145	40	1	1390	1	ACOXL	2	111789258	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2383910	111789258	131410115	223	41571											
MERTK	10461	broad.mit.edu	37	chr2	112733042	112733042	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggattctagccagcacgacTgaaggaggtaattcctgggg	14	8	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:112733042T>C	uc002thk.1	+	7	1259	c.1137T>C	c.(1135-1137)ACT>ACC	p.T379T	MERTK_uc002thl.1_Silent_p.T203T	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	379	Fibronectin type-III 1.|Extracellular (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						CCAGCACGACTGAAGGAGGTA	0.483													C	112733042	T	C	112733042	2	2	55	1	0	0	0	0	0	0	0	1	9479	1567	55	3		3	MERTK	2	112733042	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	943784	112733042	130466331	224	41572											
ZC3H6	376940	broad.mit.edu	37	chr2	113089407	113089407	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actacaaaaaaattttgatcCtaggcttcacagactgccca	5	11	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:113089407C>A	uc002thq.1	+	12	3306	c.2912C>A	c.(2911-2913)CCT>CAT	p.P971H		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	971							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4						AATTTTGATCCTAGGCTTCAC	0.428													A	113089407	C	A	113089407	3	1	55	1	0	0	0	0	1	0	0	0	17568	681	24	5	2958	5	ZC3H6	2	113089407	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	356365	113089407	130109966	225	41573											
PAX8	7849	broad.mit.edu	37	chr2	113999253	113999253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaaggtgctttcggggtcCgctgctgctgctctgtgagt	16	10	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:113999253C>T	uc010yxt.1	-	7	818	c.652G>A	c.(652-654)GGA>AGA	p.G218R	PAX8_uc010yxu.1_Missense_Mutation_p.G218R|PAX8_uc010yxv.1_Missense_Mutation_p.G218R|PAX8_uc002tjm.2_Missense_Mutation_p.G218R|PAX8_uc002tjn.2_Missense_Mutation_p.G218R|PAX8_uc010fku.1_Missense_Mutation_p.G218R|LOC654433_uc002tjq.3_Intron|LOC654433_uc010fks.2_Intron|LOC654433_uc010fkt.2_Intron|LOC654433_uc002tjr.3_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	paired box 8 isoform PAX8A	218					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity			ovary(1)|lung(1)	2						TTTCGGGGTCCGCTGCTGCTG	0.582			T	PPARG	follicular thyroid		Thyroid dysgenesis 						T	113999253	C	T	113999253	3	4	55	1	0	0	0	0	1	0	0	0	11485	661	23	1	599	1	PAX8	2	113999253	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	909846	113999253	129200120	226	41574											
DPP10	57628	broad.mit.edu	37	chr2	116534834	116534834	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgacatcaggaaactgggaAgtgataaagatcttggcata	11	6	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:116534834A>G	uc002tla.1	+	14	1729	c.1272A>G	c.(1270-1272)GAA>GAG	p.E424E	DPP10_uc002tlb.1_Silent_p.E374E|DPP10_uc002tlc.1_Silent_p.E420E|DPP10_uc002tle.2_Silent_p.E428E|DPP10_uc002tlf.1_Silent_p.E417E	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	424	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						GAAACTGGGAAGTGATAAAGA	0.373													G	116534834	A	G	116534834	2	3	55	1	0	0	0	0	0	0	0	1	4727	69	3	3		3	DPP10	2	116534834	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	2535581	116534834	126664539	227	41575											
PTPN4	5775	broad.mit.edu	37	chr2	120692467	120692467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggttcatacttccccaagcGaagtgtttgtaaatcagaga	9	8	2	1	rs140214166	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:120692467G>A	uc002tmf.1	+	15	2059	c.1288G>A	c.(1288-1290)GAA>AAA	p.E430K	PTPN4_uc010flj.1_Missense_Mutation_p.E143K|PTPN4_uc010yyr.1_Missense_Mutation_p.E63K	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	430						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	TTCCCCAAGCGAAGTGTTTGT	0.398													A	120692467	G	A	120692467	3	1	55	1	0	0	0	0	1	0	0	0	12790	1059	37	1	1342	1	PTPN4	2	120692467	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	4157633	120692467	122506906	228	41576											
GLI2	2736	broad.mit.edu	37	chr2	121743872	121743872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgtgtcagtccagccccGgggcccagtcgtcctgcagc	13	16	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:121743872G>A	uc010flp.2	+	12	2005	c.1975G>A	c.(1975-1977)GGG>AGG	p.G659R	GLI2_uc002tmq.1_Missense_Mutation_p.G331R|GLI2_uc002tmr.1_Missense_Mutation_p.G314R|GLI2_uc002tmt.3_Missense_Mutation_p.G331R|GLI2_uc002tmu.3_Missense_Mutation_p.G314R|GLI2_uc002tmw.1_Missense_Mutation_p.G642R	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	659					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				GTCCAGCCCCGGGGCCCAGTC	0.672													A	121743872	G	A	121743872	3	1	55	1	0	0	0	0	1	0	0	0	6438	1116	39	1	2021	1	GLI2	2	121743872	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1051405	121743872	121455501	229	41577											
CLASP1	23332	broad.mit.edu	37	chr2	122154732	122154732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacctttctcacgtctgaaCtctttggttctgttgtccag	7	11	4	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:122154732C>T	uc002tnc.2	-	29	3497	c.3107G>A	c.(3106-3108)AGT>AAT	p.S1036N	CLASP1_uc010yyv.1_Missense_Mutation_p.S121N|CLASP1_uc002tmz.2_Missense_Mutation_p.S121N|CLASP1_uc002tna.2_Missense_Mutation_p.S121N|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.S1016N|CLASP1_uc010yza.1_Missense_Mutation_p.S1008N|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	1036					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)					CACGTCTGAACTCTTTGGTTC	0.418													T	122154732	C	T	122154732	3	4	55	1	0	0	0	0	1	0	0	0	3454	565	20	4	1553	4	CLASP1	2	122154732	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	410860	122154732	121044641	230	41578											
NCKAP5	344148	broad.mit.edu	37	chr2	133489555	133489555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggtagcgtcctgtcgagCgatttcccgagtctgggagt	14	9	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:133489555C>T	uc002ttp.2	-	17	5572	c.5198G>A	c.(5197-5199)CGC>CAC	p.R1733H	NCKAP5_uc002ttq.2_Missense_Mutation_p.R414H	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1733							protein binding				0						TCCTGTCGAGCGATTTCCCGA	0.547													T	133489555	C	T	133489555	3	4	55	1	0	0	0	0	1	0	0	0	10223	768	27	1	547	1	NCKAP5	2	133489555	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	11334823	133489555	109709818	231	41579											
NCKAP5	344148	broad.mit.edu	37	chr2	133542365	133542365	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaatgggctcaccgtcttcCgcatcaaatatcacagtcac	6	14	6	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:133542365C>T	uc002ttp.2	-	14	2393	c.2019G>A	c.(2017-2019)GCG>GCA	p.A673A	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	673							protein binding				0						CACCGTCTTCCGCATCAAATA	0.438													T	133542365	C	T	133542365	2	4	55	1	0	0	0	0	0	0	0	1	10223	639	23	1		1	NCKAP5	2	133542365	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	52810	133542365	109657008	232	41580											
R3HDM1	23518	broad.mit.edu	37	chr2	136399348	136399348	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctggcagtattctgatcAacccacaaacaggttggtat	8	11	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:136399348A>G	uc002tuo.2	+	15	1832	c.1462A>G	c.(1462-1464)AAC>GAC	p.N488D	R3HDM1_uc010fni.2_Missense_Mutation_p.N486D|R3HDM1_uc002tup.2_Missense_Mutation_p.N432D|R3HDM1_uc010zbh.1_Intron	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	488							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		TATTCTGATCAACCCACAAAC	0.413													G	136399348	A	G	136399348	3	3	55	1	0	0	0	0	1	0	0	0	12887	130	5	3	1512	3	R3HDM1	2	136399348	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	2856983	136399348	106800025	233	41581											
LCT	3938	broad.mit.edu	37	chr2	136567157	136567157	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccatcggcatcccacgcGccttcaatctgataagcgga	9	14	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:136567157G>A	uc002tuu.1	-	8	2771	c.2760C>T	c.(2758-2760)GGC>GGT	p.G920G		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	920	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		CATCCCACGCGCCTTCAATCT	0.537													A	136567157	G	A	136567157	2	1	55	1	0	0	0	0	0	0	0	1	8693	1074	38	1		1	LCT	2	136567157	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	167809	136567157	106632216	234	41582											
LRP1B	53353	broad.mit.edu	37	chr2	141299356	141299356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attataacttacagctattgGtgtcattggcaacagctatg	8	7	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:141299356G>A	uc002tvj.1	-	44	8351	c.7379C>T	c.(7378-7380)ACC>ATC	p.T2460I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2460	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAGCTATTGGTGTCATTGGC	0.348										TSP Lung(27;0.18)			A	141299356	G	A	141299356	3	1	55	1	0	0	0	0	1	0	0	0	8955	1261	44	4	6612	4	LRP1B	2	141299356	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	4732199	141299356	101900017	235	41583											
LRP1B	53353	broad.mit.edu	37	chr2	141680553	141680553	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtactccaacaggaaaaCttggttttgtggtcacacaa	8	10	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:141680553C>T	uc002tvj.1	-	21	4272	c.3300G>A	c.(3298-3300)AAG>AAA	p.K1100K	LRP1B_uc010fnl.1_Silent_p.K282K	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1100	Extracellular (Potential).|LDL-receptor class A 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AACAGGAAAACTTGGTTTTGT	0.443										TSP Lung(27;0.18)			T	141680553	C	T	141680553	2	4	55	1	0	0	0	0	0	0	0	1	8955	564	20	4		4	LRP1B	2	141680553	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	381197	141680553	101518820	236	41584											
FMNL2	114793	broad.mit.edu	37	chr2	153471485	153471485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatgctgccttggagaggGtggaagaactggaagaaaac	15	5	0	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:153471485G>A	uc002tye.2	+	12	1550	c.1183G>A	c.(1183-1185)GTG>ATG	p.V395M		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	395	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3						CTTGGAGAGGGTGGAAGAACT	0.403													A	153471485	G	A	153471485	3	1	55	1	0	0	0	0	1	0	0	0	5952	1261	44	4	1229	4	FMNL2	2	153471485	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	11790932	153471485	89727888	237	41585											
CYTIP	9595	broad.mit.edu	37	chr2	158300372	158300372	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcatacctgctttcgtcccCgaggcagagtagccaccgtg	10	14	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:158300372C>A	uc002tzj.1	-	1	233	c.161G>T	c.(160-162)CGG>CTG	p.R54L	CYTIP_uc010zcl.1_Intron	NM_004288	NP_004279	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	54					regulation of cell adhesion	cell cortex|early endosome	protein binding			ovary(1)|kidney(1)|skin(1)	3						CTTTCGTCCCCGAGGCAGAGT	0.473													A	158300372	C	A	158300372	3	1	55	1	0	0	0	0	1	0	0	0	4207	652	23	5	950	5	CYTIP	2	158300372	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	4828887	158300372	84899001	238	41586											
ACVR1C	130399	broad.mit.edu	37	chr2	158406868	158406879	+	In_Frame_Del	DEL	GTCCTTGCAATT	GTCCTTGCAATT	-													ctatttcctgaagcacaatcGtccttgcaattgtcctttga							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:158406867_158406878CGTCCTTGCAATT>C	uc002tzk.4	-	3	814_825	c.571_582AATTGCAAGGACG>G	c.(571-582)attgcaaggacg>G	p.IART191del	ACVR1C_uc002tzl.4_In_Frame_Del_p.IART111del|ACVR1C_uc010fof.3_Intron|ACVR1C_uc010foe.3_In_Frame_Del_p.IART141del	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	191	GS.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity	p.T194T(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GAAGCACAATCGTCCTTGCAATTGTCCTTTGA	0.396													-	158406879	GTCCTTGCAATT	-	158406868	7	5	55	1	0	1	0	1	0	0	0	0	222	1145	40	0	924	0	ACVR1C	2	158406868	In_Frame_Del	DEL	GTCCTTGCAATT	TCGA-BR-7851-01A-11D-2201-08	106496	158406868	84792505	239	41587											
LY75	4065	broad.mit.edu	37	chr2	160750520	160750520	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcaagaatgcaatcaTgatgccaggtcccatcaatt	6	11	4	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:160750520T>C	uc002ubc.3	-	3	611	c.542A>G	c.(541-543)CAT>CGT	p.H181R	LY75_uc002ubb.3_Missense_Mutation_p.H181R|LY75_uc010fos.2_Missense_Mutation_p.H181R|LY75_uc010fot.1_Missense_Mutation_p.H181R	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	181	Extracellular (Potential).|Fibronectin type-II.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		AATGCAATCATGATGCCAGGT	0.448													C	160750520	T	C	160750520	3	2	55	1	0	0	0	0	1	0	0	0	9099	1464	51	3	4758	3	LY75	2	160750520	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	2343652	160750520	82448853	240	41588											
SLC4A10	57282	broad.mit.edu	37	chr2	162711564	162711564	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actctttcattgcacagcttGtttgaattgagaagttgtat	8	6	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:162711564G>T	uc002ubx.3	+	5	685	c.501G>T	c.(499-501)TTG>TTT	p.L167F	SLC4A10_uc010fpa.1_Missense_Mutation_p.L179F|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.L167F|SLC4A10_uc010zcs.1_Missense_Mutation_p.L178F	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	167	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						TGCACAGCTTGTTTGAATTGA	0.398													T	162711564	G	T	162711564	3	4	55	1	0	0	0	0	1	0	0	0	14651	1368	48	5	604	5	SLC4A10	2	162711564	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1961044	162711564	80487809	241	41589											
SLC4A10	57282	broad.mit.edu	37	chr2	162804217	162804217	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaagcagttcaagactAgcagatattttccaaccaag	7	11	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:162804217A>G	uc002ubx.3	+	17	2429	c.2245A>G	c.(2245-2247)AGC>GGC	p.S749G	SLC4A10_uc002uby.3_Missense_Mutation_p.S719G|SLC4A10_uc010zcs.1_Missense_Mutation_p.S730G	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	749	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						GTTCAAGACTAGCAGATATTT	0.378													G	162804217	A	G	162804217	3	3	55	1	0	0	0	0	1	0	0	0	14651	420	15	3	2396	3	SLC4A10	2	162804217	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	92653	162804217	80395156	242	41590											
KCNH7	90134	broad.mit.edu	37	chr2	163693269	163693270	+	Frame_Shift_Ins	INS	-	-	T													ctggcatttgcaatgataaaINSttttttatctgtaataagaa							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:163693269_163693270insT	uc002uch.1	-	2	296_297	c.84_85insA	c.(82-87)AAATTTfs	p.K28fs	KCNH7_uc002uci.2_Frame_Shift_Ins_p.K28fs	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	28_29	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	GCAATGATAAATTTTTTATCTG	0.381													T	163693270	-	T	163693269	7	5	55	1	0	1	1	0	0	0	0	0	8037	101	4	0	3631	0	KCNH7	2	163693269	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	889052	163693269	79506104	243	41591	140	2									
KCNH7	90134	broad.mit.edu	37	chr2	163693270	163693271	+	Frame_Shift_Ins	INS	-	-	T													tggcatttgcaatgataaatINStttttatctgtaataagaag							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:163693269_163693270A>AT	uc002uch.2	-	1	313_314	c.84_85T>AT	c.(82-87)aaatttfs	p.K28fs	KCNH7_uc002uci.3_Frame_Shift_Ins_p.K28fs	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	28					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.F29I(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GCAATGATAAATTTTTTATCTG	0.381													T	163693271	-	T	163693270	7	5	55	1	0	1	1	0	0	0	0	0	8037	1490	52	0	3632	0	KCNH7	2	163693270	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	1	163693270	79506103	244	41592	140	2									
SCN3A	6328	broad.mit.edu	37	chr2	166010981	166010981	+	Frame_Shift_Del	DEL	T	T	-													cctgagcttcttcctgttgcTttttaagctgttcgagcatc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:166010980_166010980CT>C	uc002ucx.3	-	10	1854	c.1362_1362AG>G	c.(1360-1362)aagfs	p.K454fs	SCN3A_uc002ucy.3_Frame_Shift_Del_p.K454fs|SCN3A_uc002ucz.3_Frame_Shift_Del_p.K454fs|SCN3A_uc002uda.1_Frame_Shift_Del_p.K323fs|SCN3A_uc002udb.1_Frame_Shift_Del_p.K323fs	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	454						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTTCCTGTTGCTTTTTAAGCT	0.398													-	166010981	T	-	166010981	7	5	55	1	0	1	0	1	0	0	0	0	13918	1609	56	0	4713	0	SCN3A	2	166010981	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	2317711	166010981	77188392	245	41593											
CSRNP3	80034	broad.mit.edu	37	chr2	166535528	166535528	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaattagattgccaaggagaGgaggaggaagaagaggagga	18	2	0	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:166535528G>T	uc002udf.2	+	7	1399	c.1023G>T	c.(1021-1023)GAG>GAT	p.E341D	CSRNP3_uc002udg.2_Missense_Mutation_p.E341D	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	341	Glu-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						GCCAAGGAGAGGAGGAGGAAG	0.483													T	166535528	G	T	166535528	3	4	55	1	0	0	0	0	1	0	0	0	3965	991	35	5	1037	5	CSRNP3	2	166535528	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	524547	166535528	76663845	246	41594											
SCN1A	6323	broad.mit.edu	37	chr2	166911252	166911252	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttttataagtgattcaaaAgtatatattcctgtgaaggt	7	3	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:166911252A>C	uc010zcz.1	-	4	516	c.498T>G	c.(496-498)ACT>ACG	p.T166T	SCN1A_uc002udo.3_Silent_p.T35T|SCN1A_uc010fpk.2_Silent_p.T35T	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	166	Helical; Name=S2 of repeat I; (By similarity).|I.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTGATTCAAAAGTATATATTC	0.328													C	166911252	A	C	166911252	2	2	55	1	0	0	0	0	0	0	0	1	13914	59	3	5		5	SCN1A	2	166911252	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	375724	166911252	76288121	247	41595											
SCN9A	6335	broad.mit.edu	37	chr2	167055217	167055217	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cttgctgtctttccctttgtCttccttttctgttctgtctt	5	12	5	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:167055217C>G	uc010fpl.2	-	27	6240	c.5899G>C	c.(5899-5901)GAC>CAC	p.D1967H	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1978						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTCCCTTTGTCTTCCTTTTCT	0.348													G	167055217	C	G	167055217	3	3	55	1	0	0	0	0	1	0	0	0	13925	913	32	5	38	5	SCN9A	2	167055217	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	143965	167055217	76144156	248	41596											
LRP2	4036	broad.mit.edu	37	chr2	169997025	169997026	+	Frame_Shift_Ins	INS	-	-	G													tccgtgcatgcacctgcatgINSgggggggcaggttgataggc					rs80338754		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:169997024_169997025T>TG	uc002ues.3	-	71	13352_13353	c.13139_13140A>CA	c.(13138-13140)ccafs	p.P4380fs		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4380	EGF-like 17.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGCACCTGCATGGGGGGGGCAG	0.535													G	169997026	-	G	169997025	7	5	55	1	0	1	1	0	0	0	0	0	8956	1348	47	0	860	0	LRP2	2	169997025	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	2941808	169997025	73202348	249	41597											
LRP2	4036	broad.mit.edu	37	chr2	170060632	170060632	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaatctgacctgacccgTcatatttgttagctcggtaa	8	10	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:170060632T>C	uc002ues.2	-	42	8078	c.7865A>G	c.(7864-7866)GAC>GGC	p.D2622G		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2622	LDL-receptor class B 29.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACCTGACCCGTCATATTTGTT	0.438													C	170060632	T	C	170060632	3	2	55	1	0	0	0	0	1	0	0	0	8956	1667	58	3	6254	3	LRP2	2	170060632	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	63607	170060632	73138741	250	41598											
CYBRD1	79901	broad.mit.edu	37	chr2	172410001	172410001	+	Frame_Shift_Del	DEL	T	T	-													gggattgacagagaaactgaTtttttccctgtaagttgcat							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:172410001delT	uc002ugy.3	+	3	738	c.548delT	c.(547-549)ATTfs	p.I183fs	CYBRD1_uc002ugz.3_Frame_Shift_Del_p.D113fs	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1 isoform 1	183	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding				0						GAGAAACTGATTTTTTCCCTG	0.328													-	172410001	T	-	172410001	7	5	55	1	0	1	0	1	0	0	0	0	4134	1493	52	0	558	0	CYBRD1	2	172410001	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	2349369	172410001	70789372	251	41599											
EVX2	344191	broad.mit.edu	37	chr2	176947040	176947040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgccgtacggtagcgccGcacttgatccgcgccagagc	13	15	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:176947040G>A	uc010zeu.1	-	2	751	c.565C>T	c.(565-567)CGG>TGG	p.R189W		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	189	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CGGTAGCGCCGCACTTGATCC	0.721													A	176947040	G	A	176947040	3	1	55	1	0	0	0	0	1	0	0	0	5295	1086	38	1	871	1	EVX2	2	176947040	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	4537039	176947040	66252333	252	41600											
TTN	7273	broad.mit.edu	37	chr2	179398049	179398049	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgactctataataaccCgtgtcttcaggcaaagtgtc	9	10	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:179398049C>A	uc010zfg.1	-	307	95813	c.95589G>T	c.(95587-95589)ACG>ACT	p.T31863T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T25558T|TTN_uc010zfi.1_Silent_p.T25491T|TTN_uc010zfj.1_Silent_p.T25366T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32790							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATAATAACCCGTGTCTTCAG	0.488													A	179398049	C	A	179398049	2	1	55	1	0	0	0	0	0	0	0	1	16732	639	23	5		5	TTN	2	179398049	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2451009	179398049	63801324	253	41601											
TTN	7273	broad.mit.edu	37	chr2	179400960	179400960	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgatatctgacatttAgatttctcagttcctcttta	5	9	4	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:179400960A>G	uc010zfg.1	-	306	93034	c.92810T>C	c.(92809-92811)CTA>CCA	p.L30937P	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L24632P|TTN_uc010zfi.1_Missense_Mutation_p.L24565P|TTN_uc010zfj.1_Missense_Mutation_p.L24440P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31864							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGACATTTAGATTTCTCAG	0.423													G	179400960	A	G	179400960	3	3	55	1	0	0	0	0	1	0	0	0	16732	420	15	3	7489	3	TTN	2	179400960	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	2911	179400960	63798413	254	41602											
TTN	7273	broad.mit.edu	37	chr2	179479424	179479424	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaagttcaatcttggtccCagcttttacagtgagaccag	10	9	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:179479424C>A	uc010zfg.1	-	210	41337	c.41113G>T	c.(41113-41115)GGG>TGG	p.G13705W	uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.G7400W|TTN_uc010zfi.1_Missense_Mutation_p.G7333W|TTN_uc010zfj.1_Missense_Mutation_p.G7208W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14632							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTTGGTCCCAGCTTTTACA	0.418													A	179479424	C	A	179479424	3	1	55	1	0	0	0	0	1	0	0	0	16732	594	21	5	59284	5	TTN	2	179479424	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	78464	179479424	63719949	255	41603											
TTN	7273	broad.mit.edu	37	chr2	179499476	179499476	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcaaaatggcagttgtaAttgcattaagggcctggtag	12	6	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:179499476A>G	uc010zfg.1	-	178	34645	c.34421T>C	c.(34420-34422)ATT>ACT	p.I11474T	TTN_uc010zfh.1_Missense_Mutation_p.I5169T|TTN_uc010zfi.1_Missense_Mutation_p.I5102T|TTN_uc010zfj.1_Missense_Mutation_p.I4977T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12401							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCAGTTGTAATTGCATTAAG	0.423													G	179499476	A	G	179499476	3	3	55	1	0	0	0	0	1	0	0	0	16732	101	4	3	66104	3	TTN	2	179499476	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	20052	179499476	63699897	256	41604											
SESTD1	91404	broad.mit.edu	37	chr2	179982318	179982318	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagcatctttaaccttcGcacatctaccatgtcttcac	4	14	4	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:179982318G>A	uc002uni.3	-	14	1615	c.1465C>T	c.(1465-1467)CGA>TGA	p.R489*	SESTD1_uc002unh.3_5'UTR	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	489	Spectrin 2.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTTAACCTTCGCACATCTACC	0.348													A	179982318	G	A	179982318	4	1	55	1	0	0	0	0	0	1	0	0	14127	1095	38	1	645	1	SESTD1	2	179982318	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	482842	179982318	63217055	257	41605											
NEUROD1	4760	broad.mit.edu	37	chr2	182543295	182543295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgcgtctcaatttaaaaCgctccaggcgagccttagtc	8	12	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:182543295C>T	uc002uof.2	-	2	529	c.293G>A	c.(292-294)CGT>CAT	p.R98H	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	98					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CAATTTAAAACGCTCCAGGCG	0.463													T	182543295	C	T	182543295	3	4	55	1	0	0	0	0	1	0	0	0	10348	536	19	1	781	1	NEUROD1	2	182543295	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2560977	182543295	60656078	258	41606											
COL3A1	1281	broad.mit.edu	37	chr2	189851835	189851837	+	In_Frame_Del	DEL	AGG	AGG	-													gtcaagtctggagtagcagtAggaggactcgcaggctatcc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:189851834_189851836TAGG>T	uc002uqj.1	+	4	614_616	c.497_499TAGG>T	c.(496-501)gtagga>gTga	p.G168del		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	168	Triple-helical region.			G -> V (in Ref. 9; AA sequence).	axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGAGTAGCAGTAGGAGGACTCGC	0.394													-	189851837	AGG	-	189851835	7	5	55	1	0	1	0	1	0	0	0	0	3688	407	15	0	516	0	COL3A1	2	189851835	In_Frame_Del	DEL	AGG	TCGA-BR-7851-01A-11D-2201-08	7308540	189851835	53347538	259	41607											
PMS1	5378	broad.mit.edu	37	chr2	190732629	190732629	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatcctcgtcttacagcgaAtggtttcaagataaaattga	8	7	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:190732629A>G	uc002urh.3	+	11	2976	c.2447A>G	c.(2446-2448)AAT>AGT	p.N816S	PMS1_uc002urk.3_Missense_Mutation_p.N777S|PMS1_uc002uri.3_Missense_Mutation_p.N654S|PMS1_uc010zgc.1_Missense_Mutation_p.N640S|PMS1_uc010zgd.1_Missense_Mutation_p.N640S|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Intron|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.N439S|PMS1_uc002urm.2_RNA	NM_000534	NP_000525	P54277	PMS1_HUMAN	postmeiotic segregation 1 isoform a	816					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CTTACAGCGAATGGTTTCAAG	0.333			Mis|N			colorectal|endometrial|ovarian		Direct_reversal_of_damage|MMR					G	190732629	A	G	190732629	3	3	55	1	0	0	0	0	1	0	0	0	12142	101	4	3	2485	3	PMS1	2	190732629	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	880794	190732629	52466744	260	41608											
MFSD6	54842	broad.mit.edu	37	chr2	191301592	191301592	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccaagtcatgcttgtttaTgatcaacaagaagttgaagc	9	7	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:191301592T>G	uc002urz.2	+	3	1161	c.837T>G	c.(835-837)TAT>TAG	p.Y279*		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	279					transmembrane transport	integral to membrane				ovary(2)	2						TGCTTGTTTATGATCAACAAG	0.428													G	191301592	T	G	191301592	4	3	55	1	0	0	0	0	0	1	0	0	9535	1471	51	5	839	5	MFSD6	2	191301592	Nonsense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	568963	191301592	51897781	261	41609											
STAT4	6775	broad.mit.edu	37	chr2	191898232	191898232	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataccactttcagaatggtcCacccaggtgaaagttattcc	7	11	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:191898232C>A	uc002usm.1	-	20	2090	c.1836G>T	c.(1834-1836)GTG>GTT	p.V612V	STAT4_uc002usn.1_Silent_p.V612V|STAT4_uc010zgk.1_Silent_p.V457V|STAT4_uc002uso.2_Silent_p.V612V	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	612	SH2.				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CAGAATGGTCCACCCAGGTGA	0.373													A	191898232	C	A	191898232	2	1	55	1	0	0	0	0	0	0	0	1	15266	581	21	5		5	STAT4	2	191898232	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	596640	191898232	51301141	262	41610											
DNAH7	56171	broad.mit.edu	37	chr2	196801374	196801375	+	Frame_Shift_Ins	INS	-	-	A													aagaagttcatcattggacaINSaaaaaaagaatctggggaaa							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:196801373_196801374C>CA	uc002utj.4	-	19	3322_3323	c.3221_3222G>TG	c.(3220-3222)ttgfs	p.L1074fs		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1074	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATCATTGGACAAAAAAAAGAA	0.317													A	196801375	-	A	196801374	7	5	55	1	0	1	1	0	0	0	0	0	4606	131	5	0	9037	0	DNAH7	2	196801374	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	4903142	196801374	46397999	263	41611											
SF3B1	23451	broad.mit.edu	37	chr2	198268475	198268475	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgagctttatcagtaatcTgacgcaatgcagcctgggaa	10	10	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:198268475T>C	uc002uue.2	-	12	1601	c.1553A>G	c.(1552-1554)CAG>CGG	p.Q518R		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	518					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATCAGTAATCTGACGCAATGC	0.383													C	198268475	T	C	198268475	3	2	55	1	0	0	0	0	1	0	0	0	14149	1580	55	3	2417	3	SF3B1	2	198268475	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	1467101	198268475	44930898	264	41612											
SATB2	23314	broad.mit.edu	37	chr2	200298107	200298107	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaataccccagggccaggagCgcagtctccaccagctggct	12	15	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:200298107C>T	uc002uuy.1	-	3	1117	c.300G>A	c.(298-300)GCG>GCA	p.A100A	SATB2_uc010fsq.1_Silent_p.A100A|SATB2_uc002uuz.1_Silent_p.A100A|SATB2_uc002uva.1_Silent_p.A100A	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	100						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGGCCAGGAGCGCAGTCTCCA	0.537													T	200298107	C	T	200298107	2	4	55	1	0	0	0	0	0	0	0	1	13854	755	27	1		1	SATB2	2	200298107	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2029632	200298107	42901266	265	41613											
FAM126B	285172	broad.mit.edu	37	chr2	201857667	201857667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attcaggatccaatactattCgaccacagagttctttccag	6	11	2	1	rs80095445		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:201857667C>T	uc002uws.3	-	9	874	c.686G>A	c.(685-687)CGA>CAA	p.R229Q	FAM126B_uc002uwu.2_Missense_Mutation_p.R147Q|FAM126B_uc002uwv.2_Missense_Mutation_p.R229Q	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	hypothetical protein LOC285172	229						intracellular				ovary(1)	1						CAATACTATTCGACCACAGAG	0.368													T	201857667	C	T	201857667	3	4	55	1	0	0	0	0	1	0	0	0	5430	884	31	1	922	1	FAM126B	2	201857667	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1559560	201857667	41341706	266	41614											
TRAK2	66008	broad.mit.edu	37	chr2	202245721	202245721	+	Frame_Shift_Del	DEL	G	G	-													ggatttagggagaggctggaGggggttctctgaaattgggc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:202245720_202245720AG>A	uc002uyb.4	-	15	2737	c.2291_2291CT>T	c.(2290-2292)ctcfs	p.L764fs		NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	764				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGAGGCTGGAGGGGGTTCTC	0.517													-	202245721	G	-	202245721	7	5	55	1	0	1	0	1	0	0	0	0	16447	1000	35	0	458	0	TRAK2	2	202245721	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	388054	202245721	40953652	267	41615											
ALS2CR11	151254	broad.mit.edu	37	chr2	202352566	202352566	+	Frame_Shift_Del	DEL	T	T	-													agccttgatcttgattttacTtttttaaggtgtgtaaatga							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:202352566delT	uc002uye.2	-	15	1689	c.1641delA	c.(1639-1641)AAAfs	p.K547fs	ALS2CR11_uc002uyf.2_Frame_Shift_Del_p.K1744fs|ALS2CR11_uc010fti.2_3'UTR	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	547										large_intestine(1)|ovary(1)|skin(1)	3						TTGATTTTACTTTTTTAAGGT	0.338													-	202352566	T	-	202352566	7	5	55	1	0	1	0	1	0	0	0	0	552	1606	56	0	234	0	ALS2CR11	2	202352566	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	106845	202352566	40846807	268	41616											
ALS2CR4	65062	broad.mit.edu	37	chr2	202494478	202494478	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccggtgcactgtaagtgcCacatctctggtggtccagga	13	12	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:202494478C>T	uc002uyh.1	-	9	752	c.651G>A	c.(649-651)GTG>GTA	p.V217V	ALS2CR4_uc002uyg.1_Silent_p.V209V|ALS2CR4_uc010zho.1_Silent_p.V12V|ALS2CR4_uc010zhp.1_RNA	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	241						integral to membrane	protein binding				0						CTGTAAGTGCCACATCTCTGG	0.418													T	202494478	C	T	202494478	2	4	55	1	0	0	0	0	0	0	0	1	554	581	21	4		4	ALS2CR4	2	202494478	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	141912	202494478	40704895	269	41617											
ALS2	57679	broad.mit.edu	37	chr2	202569184	202569184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaaacagttacctggcccGtagcaccacatataagaaaa	6	10	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:202569184G>A	uc002uyo.2	-	32	5187	c.4831C>T	c.(4831-4833)CGG>TGG	p.R1611W	ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	1611	VPS9.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7						TACCTGGCCCGTAGCACCACA	0.438													A	202569184	G	A	202569184	3	1	55	1	0	0	0	0	1	0	0	0	550	1144	40	1	154	1	ALS2	2	202569184	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	74706	202569184	40630189	270	41618											
FZD7	8324	broad.mit.edu	37	chr2	202899487	202899487	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagccgtaccacggagagaaGggcatctccgtgccggacca	13	14	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:202899487G>T	uc002uyw.1	+	1	178	c.117G>T	c.(115-117)AAG>AAT	p.K39N		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	39	Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(2)|ovary(1)|breast(1)	4						ACGGAGAGAAGGGCATCTCCG	0.706													T	202899487	G	T	202899487	3	4	55	1	0	0	0	0	1	0	0	0	6135	991	35	5	119	5	FZD7	2	202899487	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	330303	202899487	40299886	271	41619											
BMPR2	659	broad.mit.edu	37	chr2	203384850	203384850	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtctccacacaagtgactGggtaagctcttgccgtcttg	10	11	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:203384850G>A	uc002uzf.3	+	7	2041	c.893G>A	c.(892-894)TGG>TAG	p.W298*	BMPR2_uc010ftr.2_Nonsense_Mutation_p.W298*	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	298	Protein kinase.|Cytoplasmic (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						ACAAGTGACTGGGTAAGCTCT	0.363													A	203384850	G	A	203384850	4	1	55	1	0	0	0	0	0	1	0	0	1471	1357	47	4	919	4	BMPR2	2	203384850	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	485363	203384850	39814523	272	41620											
ICA1L	130026	broad.mit.edu	37	chr2	203686126	203686126	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgccagtggcatccatcAttttgccagcttgagttgca	9	12	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:203686126A>G	uc002uzh.1	-	5	478	c.314T>C	c.(313-315)ATG>ACG	p.M105T	ICA1L_uc002uzi.1_Missense_Mutation_p.M105T|ICA1L_uc002uzj.2_Missense_Mutation_p.M105T	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like isoform 1	105	AH.										0						GGCATCCATCATTTTGCCAGC	0.388													G	203686126	A	G	203686126	3	3	55	1	0	0	0	0	1	0	0	0	7478	217	8	3	1174	3	ICA1L	2	203686126	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	301276	203686126	39513247	273	41621											
C2orf67	151050	broad.mit.edu	37	chr2	210993825	210993825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctaggtctgaaatctgaGcttgaagccaagtccatcgg	10	9	3	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:210993825G>A	uc002vds.2	-	3	1368	c.1160C>T	c.(1159-1161)GCT>GTT	p.A387V	C2orf67_uc002vdt.2_Missense_Mutation_p.A387V|C2orf67_uc002vdw.2_Missense_Mutation_p.A387V|C2orf67_uc002vdv.2_Missense_Mutation_p.A387V|C2orf67_uc002vdx.1_Missense_Mutation_p.A387V	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	387										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)		TGAAATCTGAGCTTGAAGCCA	0.428													A	210993825	G	A	210993825	3	1	55	1	0	0	0	0	1	0	0	0	2186	971	34	2	1855	2	C2orf67	2	210993825	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	7307699	210993825	32205548	274	41622											
USP37	57695	broad.mit.edu	37	chr2	219423238	219423238	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctgaaatatccttggaaTtcctccagtattgtagtgaa	7	8	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:219423238T>C	uc002vie.2	-	4	592	c.139A>G	c.(139-141)ATT>GTT	p.I47V	USP37_uc010fvs.1_Missense_Mutation_p.I47V|USP37_uc010zkf.1_Missense_Mutation_p.I47V|USP37_uc002vif.2_Missense_Mutation_p.I47V|USP37_uc002vig.2_Intron|USP37_uc010zkg.1_Missense_Mutation_p.I47V	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	47					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		ATCCTTGGAATTCCTCCAGTA	0.348													C	219423238	T	C	219423238	3	2	55	1	0	0	0	0	1	0	0	0	17065	1493	52	3	2892	3	USP37	2	219423238	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	8429413	219423238	23776135	275	41623											
STK36	27148	broad.mit.edu	37	chr2	219558685	219558685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcccttcttgtctttcGgctccaaaacctgccttgtg	6	16	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:219558685G>A	uc002viu.2	+	19	2581	c.2315G>A	c.(2314-2316)CGG>CAG	p.R772Q	STK36_uc002viv.2_Missense_Mutation_p.R772Q|STK36_uc002viw.2_5'Flank|STK36_uc002vix.2_5'Flank	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	772					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTTGTCTTTCGGCTCCAAAAC	0.438													A	219558685	G	A	219558685	3	1	55	1	0	0	0	0	1	0	0	0	15301	1116	39	1	2385	1	STK36	2	219558685	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	135447	219558685	23640688	276	41624											
WNT6	7475	broad.mit.edu	37	chr2	219736402	219736402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccccggaaggcagcgccgCctgggagtggggaggctgcg	19	13	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:219736402C>T	uc002vjc.1	+	3	712	c.497C>T	c.(496-498)GCC>GTC	p.A166V		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family,	166					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			ovary(2)|skin(1)	3		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCAGCGCCGCCTGGGAGTGG	0.448													T	219736402	C	T	219736402	3	4	55	1	0	0	0	0	1	0	0	0	17390	739	26	2	507	2	WNT6	2	219736402	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	177717	219736402	23462971	277	41625											
CCDC108	255101	broad.mit.edu	37	chr2	219895916	219895916	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgtagatgacggctgtaagGggctgaaaggtcaccttgat	14	7	1	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:219895916G>T	uc002vjl.1	-	8	1011	c.927C>A	c.(925-927)CCC>CCA	p.P309P	CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Silent_p.P298P|CCDC108_uc010zkq.1_Silent_p.P244P	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	309						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCTGTAAGGGGCTGAAAGG	0.652													T	219895916	G	T	219895916	2	4	55	1	0	0	0	0	0	0	0	1	2743	1219	43	5		5	CCDC108	2	219895916	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	159514	219895916	23303457	278	41626											
PTPRN	5798	broad.mit.edu	37	chr2	220162723	220162723	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccacagccagagccaccaGcagcccagccacacctgcca	8	20	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:220162723G>A	uc002vkz.2	-	13	1860	c.1771C>T	c.(1771-1773)CTG>TTG	p.L591L	PTPRN_uc010zlc.1_Silent_p.L501L|PTPRN_uc002vla.2_Silent_p.L562L	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	591	Helical; (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGAGCCACCAGCAGCCCAGCC	0.677													A	220162723	G	A	220162723	2	1	55	1	0	0	0	0	0	0	0	1	12807	962	34	2		2	PTPRN	2	220162723	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	266807	220162723	23036650	279	41627											
PTPRN	5798	broad.mit.edu	37	chr2	220166399	220166399	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagctgacgcagctctaccCcatagcccgccagcacagcg	9	18	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:220166399C>A	uc002vkz.2	-	7	1126	c.1037G>T	c.(1036-1038)GGG>GTG	p.G346V	PTPRN_uc010zlc.1_Missense_Mutation_p.G256V|PTPRN_uc002vla.2_Missense_Mutation_p.G346V	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	346	Extracellular (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CAGCTCTACCCCATAGCCCGC	0.612													A	220166399	C	A	220166399	3	1	55	1	0	0	0	0	1	0	0	0	12807	623	22	5	1970	5	PTPRN	2	220166399	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3676	220166399	23032974	280	41628											
GMPPA	29926	broad.mit.edu	37	chr2	220371072	220371072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagtgaccctaaccccaacGatccccgagcccgcatggac	8	19	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:220371072G>A	uc002vlr.2	+	12	1158	c.1090G>A	c.(1090-1092)GAT>AAT	p.D364N	GMPPA_uc002vls.2_Missense_Mutation_p.D364N|GMPPA_uc002vlt.2_Missense_Mutation_p.D417N|GMPPA_uc002vlu.2_Missense_Mutation_p.D417N|GMPPA_uc002vlv.2_Missense_Mutation_p.D364N|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Missense_Mutation_p.D364N	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	364					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TAACCCCAACGATCCCCGAGC	0.657													A	220371072	G	A	220371072	3	1	55	1	0	0	0	0	1	0	0	0	6494	1058	37	1	1132	1	GMPPA	2	220371072	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	204673	220371072	22828301	281	41629											
ACCN4	55515	broad.mit.edu	37	chr2	220379398	220379398	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccagggctgctggctagGgagggacagggcagggaggc	21	9	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:220379398G>A	uc002vma.2	+	1	347	c.333G>A	c.(331-333)AGG>AGA	p.R111R	ACCN4_uc010fwi.1_Silent_p.R111R|ACCN4_uc010fwj.1_Silent_p.R111R|ACCN4_uc002vly.1_Silent_p.R111R|ACCN4_uc002vlz.2_Silent_p.R111R|ACCN4_uc002vmb.2_5'Flank	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN	amiloride-sensitive cation channel 4 isoform 2	111						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity			ovary(2)	2		Renal(207;0.0183)		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)		TGCTGGCTAGGGAGGGACAGG	0.627													A	220379398	G	A	220379398	2	1	55	1	0	0	0	0	0	0	0	1	131	1223	43	4		4	ACCN4	2	220379398	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	8326	220379398	22819975	282	41630											
OBSL1	23363	broad.mit.edu	37	chr2	220432935	220432935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcagccgctggtcctcaCggaaccaggccgtggggatg	16	13	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:220432935C>T	uc010fwk.2	-	2	1181	c.1124G>A	c.(1123-1125)CGT>CAT	p.R375H	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.R375H|OBSL1_uc002vmj.2_Translation_Start_Site	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	375	Ig-like 4.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CTGGTCCTCACGGAACCAGGC	0.637											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	220432935	C	T	220432935	3	4	55	1	0	0	0	0	1	0	0	0	10813	536	19	1	4798	1	OBSL1	2	220432935	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	53537	220432935	22766438	283	41631											
SLC4A3	6508	broad.mit.edu	37	chr2	220504282	220504282	+	Frame_Shift_Del	DEL	G	G	-													ctgctcctcattggctccctGggggggctctgtgggctgtt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:220504281_220504281TG>T	uc002vmo.4	+	19	3391	c.3182_3182TG>T	c.(3181-3183)ctgfs	p.L1061fs	SLC4A3_uc002vmp.4_Frame_Shift_Del_p.L1034fs|SLC4A3_uc010fwm.3_Frame_Shift_Del_p.L584fs	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	1034	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATTGGCTCCCTGGGGGGGCTC	0.642													-	220504282	G	-	220504282	7	5	55	1	0	1	0	1	0	0	0	0	14655	1335	47	0	3257	0	SLC4A3	2	220504282	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	71347	220504282	22695091	284	41632											
KIAA1486	57624	broad.mit.edu	37	chr2	226447270	226447270	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacagccagccggggcgtcGccctccacgctgccgtccca	11	19	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:226447270G>A	uc002voe.2	+	4	1312	c.1137G>A	c.(1135-1137)TCG>TCA	p.S379S	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.S149S	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	379	Pro-rich.									ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		CCGGGGCGTCGCCCTCCACGC	0.667													A	226447270	G	A	226447270	2	1	55	1	0	0	0	0	0	0	0	1	8237	1074	38	1		1	KIAA1486	2	226447270	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5942988	226447270	16752103	285	41633											
RHBDD1	84236	broad.mit.edu	37	chr2	227729594	227729594	+	Frame_Shift_Del	DEL	A	A	-													tgtggagaagtgttaccagcAaaaagactggcagcgtttac							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:227729593_227729593CA>C	uc021vxo.1	+	3	708	c.184_184CA>C	c.(184-186)caafs	p.Q62fs	RHBDD1_uc002voi.3_Frame_Shift_Del_p.Q62fs|RHBDD1_uc010fxc.3_Frame_Shift_Del_p.Q62fs	NM_001167608	NP_115652	Q8TEB9	RHBD1_HUMAN	Homo sapiens rhomboid domain containing 1 (RHBDD1), transcript variant 2, mRNA.	62						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		GTGTTACCAGCAAAAAGACTG	0.463													-	227729594	A	-	227729594	7	5	55	1	0	1	0	1	0	0	0	0	13316	130	5	0	187	0	RHBDD1	2	227729594	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	1282324	227729594	15469779	286	41634											
COL4A3	1285	broad.mit.edu	37	chr2	228128641	228128641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtcttccaggatcaccGggacctccaggaccgccagg	12	16	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:228128641G>A	uc002vom.1	+	21	1458	c.1296G>A	c.(1294-1296)CCG>CCA	p.P432P	COL4A3_uc002von.1_Silent_p.P432P|COL4A3_uc002voo.1_Silent_p.P432P|COL4A3_uc002vop.1_Silent_p.P432P|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	432	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CAGGATCACCGGGACCTCCAG	0.577													A	228128641	G	A	228128641	2	1	55	1	0	0	0	0	0	0	0	1	3691	1103	39	1		1	COL4A3	2	228128641	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	399047	228128641	15070732	287	41635											
TRIP12	9320	broad.mit.edu	37	chr2	230659897	230659897	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcaatggtccttacctGcctcctgtcccatttccact	6	17	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:230659897G>A	uc002vpw.1	-	25	3850	c.3741C>T	c.(3739-3741)GGC>GGT	p.G1247G	TRIP12_uc002vpx.1_Silent_p.G1295G|TRIP12_uc002vpy.1_Silent_p.G977G	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1247					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTCCTTACCTGCCTCCTGTCC	0.448													A	230659897	G	A	230659897	2	1	55	1	0	0	0	0	0	0	0	1	16553	1306	46	2		2	TRIP12	2	230659897	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2531256	230659897	12539476	288	41636											
TRIP12	9320	broad.mit.edu	37	chr2	230673018	230673018	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgagggcttcgtggaacaagAtcaatctgttcctgacaact	10	9	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:230673018A>T	uc002vpw.1	-	15	2254	c.2145T>A	c.(2143-2145)GAT>GAA	p.D715E	TRIP12_uc002vpx.1_Missense_Mutation_p.D763E|TRIP12_uc002vpy.1_Missense_Mutation_p.D418E|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.D721E	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	715					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTGGAACAAGATCAATCTGTT	0.343													T	230673018	A	T	230673018	3	4	55	1	0	0	0	0	1	0	0	0	16553	330	12	5	3941	5	TRIP12	2	230673018	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	13121	230673018	12526355	289	41637											
SLC16A14	151473	broad.mit.edu	37	chr2	230911029	230911029	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatgttcttcctgtgcccGgcctgatcggggcactcctg	11	15	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:230911029G>A	uc002vqd.1	-	4	1176	c.813C>T	c.(811-813)GCC>GCT	p.A271A	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Silent_p.A271A|SLC16A14_uc002vqf.2_Silent_p.A271A	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	271	Extracellular (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TCCTGTGCCCGGCCTGATCGG	0.587													A	230911029	G	A	230911029	2	1	55	1	0	0	0	0	0	0	0	1	14407	1103	39	1		1	SLC16A14	2	230911029	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	238011	230911029	12288344	290	41638											
GPR55	9290	broad.mit.edu	37	chr2	231775360	231775360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatggtgaagacgcttccGtacatgctgacgaagtaaag	12	8	0	4	rs139163265	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:231775360G>A	uc002vrg.2	-	2	511	c.318C>T	c.(316-318)TAC>TAT	p.Y106Y	GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Silent_p.Y106Y	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	106	Helical; Name=3; (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AGACGCTTCCGTACATGCTGA	0.582													A	231775360	G	A	231775360	2	1	55	1	0	0	0	0	0	0	0	1	6699	1140	40	1		1	GPR55	2	231775360	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	864331	231775360	11424013	291	41639											
ALPP	250	broad.mit.edu	37	chr2	233246071	233246071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccggatgttaccgagagcGagagcggtgagtgccgcggg	20	9	0	3	rs146681711		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:233246071G>A	uc002vsq.2	+	10	1468	c.1303G>A	c.(1303-1305)GAG>AAG	p.E435K	ALPP_uc002vsr.2_RNA	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	435						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TACCGAGAGCGAGAGCGGTGA	0.672													A	233246071	G	A	233246071	3	1	55	1	0	0	0	0	1	0	0	0	548	1059	37	1	1341	1	ALPP	2	233246071	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1470711	233246071	9953302	292	41640											
ALPI	248	broad.mit.edu	37	chr2	233323406	233323406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctgtacggcaatggcccGggctacgtgttcaactcagg	12	12	2	0	rs144515683		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:233323406G>A	uc002vst.3	+	10	1325	c.1248G>A	c.(1246-1248)CCG>CCA	p.P416P	ALPI_uc002vsu.3_Silent_p.P327P	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	416					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCAATGGCCCGGGCTACGTGT	0.622													A	233323406	G	A	233323406	2	1	55	1	0	0	0	0	0	0	0	1	543	1103	39	1		1	ALPI	2	233323406	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	77335	233323406	9875967	293	41641											
KCNJ13	3769	broad.mit.edu	37	chr2	233633173	233633173	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctcctgcattgctgaaaGgaatacaactaattcaaagt	7	10	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:233633173G>T	uc002vto.2	-	2	854	c.811C>A	c.(811-813)CTT>ATT	p.L271I	GIGYF2_uc010zmj.1_Intron|GIGYF2_uc002vtg.2_Intron|GIGYF2_uc002vtj.3_Intron|GIGYF2_uc002vti.3_Intron|GIGYF2_uc002vtk.3_Intron|GIGYF2_uc002vth.3_Intron|GIGYF2_uc010zmk.1_Intron|GIGYF2_uc010zml.1_Intron|KCNJ13_uc002vtn.2_3'UTR|KCNJ13_uc002vtp.2_Missense_Mutation_p.L271I	NM_002242	NP_002233	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel J13	271	Cytoplasmic (By similarity).					voltage-gated potassium channel complex	inward rectifier potassium channel activity				0		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		ATTGCTGAAAGGAATACAACT	0.433													T	233633173	G	T	233633173	3	4	55	1	0	0	0	0	1	0	0	0	8047	1000	35	5	275	5	KCNJ13	2	233633173	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	309767	233633173	9566200	294	41642											
UGT1A5	54579	broad.mit.edu	37	chr2	234622109	234622109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacccctttcacctctgcGcggcggtgctggctaagtac	11	15	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:234622109G>A	uc002vuw.2	+	1	472	c.472G>A	c.(472-474)GCG>ACG	p.A158T	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Missense_Mutation_p.A158T	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	158					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TCACCTCTGCGCGGCGGTGCT	0.493													A	234622109	G	A	234622109	3	1	55	1	0	0	0	0	1	0	0	0	16945	1087	38	1	474	1	UGT1A5	2	234622109	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	988936	234622109	8577264	295	41643											
ARL4C	10123	broad.mit.edu	37	chr2	235404797	235404797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggataagctcgtgcagcGccagctgcttctcaatctct	10	14	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:235404797G>A	uc002vvn.2	-	1	897	c.434C>T	c.(433-435)GCG>GTG	p.A145V	ARL4C_uc002vvm.3_Missense_Mutation_p.A145V	NM_005737	NP_005728	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	145					endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity			skin(1)	1		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		CTCGTGCAGCGCCAGCTGCTT	0.637													A	235404797	G	A	235404797	3	1	55	1	0	0	0	0	1	0	0	0	937	1087	38	1	148	1	ARL4C	2	235404797	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	782688	235404797	7794576	296	41644											
AGAP1	116987	broad.mit.edu	37	chr2	236649677	236649677	+	Frame_Shift_Del	DEL	C	C	-													ctgatcagagatgaagggggCcccccggaggcgcaggtgag							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:236649676_236649676GC>G	uc002vvs.3	+	3	978	c.380_380GC>G	c.(379-381)ggcfs	p.G127fs	AGAP1_uc002vvt.3_Frame_Shift_Del_p.G127fs|AGAP1_uc021vyp.1_Frame_Shift_Del_p.G127fs	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	127	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	p.G127A(2)|p.G127G(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GATGAAGGGGGCCCCCCGGAG	0.488													-	236649677	C	-	236649677	7	5	55	1	0	1	0	1	0	0	0	0	366	726	26	0	395	0	AGAP1	2	236649677	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	1244880	236649677	6549696	297	41645											
AGAP1	116987	broad.mit.edu	37	chr2	236706491	236706491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattctcccagccattcctcCgtctgttccgcgcaggtgtc	8	16	2	0	rs150458947		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:236706491C>T	uc002vvs.2	+	7	1357	c.762C>T	c.(760-762)TCC>TCT	p.S254S	AGAP1_uc002vvt.2_Silent_p.S254S	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	254	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						GCCATTCCTCCGTCTGTTCCG	0.507													T	236706491	C	T	236706491	2	4	55	1	0	0	0	0	0	0	0	1	366	639	23	1		1	AGAP1	2	236706491	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	56814	236706491	6492882	298	41646											
LRRFIP1	9208	broad.mit.edu	37	chr2	238672491	238672491	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaatagatggtgccactcAaagcagtcctgcagaaccaa	8	10	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:238672491A>G	uc002vxe.2	+	11	2427	c.2135A>G	c.(2134-2136)CAA>CGA	p.Q712R	LRRFIP1_uc002vxc.2_Intron|LRRFIP1_uc010znm.1_Intron|LRRFIP1_uc002vxd.2_Missense_Mutation_p.Q688R|LRRFIP1_uc002vxf.2_Missense_Mutation_p.Q656R	NM_001137552	NP_001131024	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting	712					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			breast(3)	3		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GGTGCCACTCAAAGCAGTCCT	0.488													G	238672491	A	G	238672491	3	3	55	1	0	0	0	0	1	0	0	0	9027	130	5	3	2853	3	LRRFIP1	2	238672491	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1966000	238672491	4526882	299	41647											
TRAF3IP1	26146	broad.mit.edu	37	chr2	239234487	239234487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcttcctacaaaaggccaTagacgtggttgtaatggtgt	11	7	0	1	rs143375220		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:239234487T>C	uc002vye.2	+	3	349	c.230T>C	c.(229-231)ATA>ACA	p.I77T	TRAF3IP1_uc002vyf.2_Missense_Mutation_p.I77T	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting	77	Abolishes microtubules-binding when missing.					cytoplasm|cytoskeleton	protein binding			ovary(1)	1		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		CAAAAGGCCATAGACGTGGTT	0.433													C	239234487	T	C	239234487	3	2	55	1	0	0	0	0	1	0	0	0	16437	1406	49	3	240	3	TRAF3IP1	2	239234487	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	561996	239234487	3964886	300	41648											
PRR21	643905	broad.mit.edu	37	chr2	240981360	240981360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagctgtggctgaagaggCgtagatgaagagacttggat	16	4	0	6			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:240981360C>T	uc010zod.1	-	1	1040	c.1040G>A	c.(1039-1041)CGC>CAC	p.R347H		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	proline rich 21	347										ovary(1)|skin(1)	2						GCTGAAGAGGCGTAGATGAAG	0.557													T	240981360	C	T	240981360	3	4	55	1	0	0	0	0	1	0	0	0	12592	768	27	1	132	1	PRR21	2	240981360	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1746873	240981360	2218013	301	41649											
PRR21	643905	broad.mit.edu	37	chr2	240982089	240982089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggcatggacgaagggccGtgggtgaagaggcatggacg	20	6	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:240982089G>A	uc010zod.1	-	1	311	c.311C>T	c.(310-312)ACG>ATG	p.T104M		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	proline rich 21	104	Pro-rich.									ovary(1)|skin(1)	2						ACGAAGGGCCGTGGGTGAAGA	0.622													A	240982089	G	A	240982089	3	1	55	1	0	0	0	0	1	0	0	0	12592	1145	40	1	861	1	PRR21	2	240982089	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	729	240982089	2217284	302	41650											
KIF1A	547	broad.mit.edu	37	chr2	241664737	241664737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaggttgcggatggagcGcgaggctggcagcttggcat	18	7	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:241664737G>A	uc002vzy.2	-	38	4050	c.3904C>T	c.(3904-3906)CGC>TGC	p.R1302C	KIF1A_uc010fzk.2_Missense_Mutation_p.R1403C|KIF1A_uc002vzz.1_Missense_Mutation_p.R1411C|KIF1A_uc002vzw.2_5'Flank|KIF1A_uc002vzx.2_Missense_Mutation_p.R29C	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	1302					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)		CGGATGGAGCGCGAGGCTGGC	0.612													A	241664737	G	A	241664737	3	1	55	1	0	0	0	0	1	0	0	0	8283	1087	38	1	1208	1	KIF1A	2	241664737	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	682648	241664737	1534636	303	41651											
ANO7	50636	broad.mit.edu	37	chr2	242135234	242135234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agacttttctggataatcttCgtgcggctgggctgtgtgta	13	7	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:242135234C>T	uc002wax.2	+	4	548	c.445C>T	c.(445-447)CGT>TGT	p.R149C	ANO7_uc002waw.2_Missense_Mutation_p.R148C	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	149	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						GGATAATCTTCGTGCGGCTGG	0.607													T	242135234	C	T	242135234	3	4	55	1	0	0	0	0	1	0	0	0	702	884	31	1	459	1	ANO7	2	242135234	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	470497	242135234	1064139	304	41652											
GRM7	2917	broad.mit.edu	37	chr3	6903441	6903441	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgaacagtcgcttactttCgtccaggcgctcatccagaa	8	14	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:6903441C>T	uc003bqm.2	+	1	640	c.366C>T	c.(364-366)TTC>TTT	p.F122F	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.F122F|GRM7_uc003bql.2_Silent_p.F122F	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	122	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.F122L(1)		ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	CGCTTACTTTCGTCCAGGCGC	0.592													T	6903441	C	T	6903441	2	4	55	1	0	0	0	0	0	0	0	1	6802	883	31	1		1	GRM7	3	6903441	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08		6903441	191118989	305	41653											
CAV3	859	broad.mit.edu	37	chr3	8787245	8787245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgatcgcagagcctgtgGgcacctacagctttgacggc	13	12	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:8787245G>A	uc003bra.2	+	2	215	c.148G>A	c.(148-150)GGC>AGC	p.G50S	C3orf32_uc003bqz.2_5'Flank|CAV3_uc003brb.2_Missense_Mutation_p.G50S	NM_001234	NP_001225	P56539	CAV3_HUMAN	caveolin 3	50	Cytoplasmic (Potential).				cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			lung(1)|breast(1)	2						AGAGCCTGTGGGCACCTACAG	0.577													A	8787245	G	A	8787245	3	1	55	1	0	0	0	0	1	0	0	0	2695	1232	43	4	154	4	CAV3	3	8787245	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1883804	8787245	189235185	306	41654											
ATP2B2	491	broad.mit.edu	37	chr3	10382254	10382254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaagacattgcgctcgcCgtggatcttgcgggcgttga	14	10	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:10382254C>T	uc003bvt.2	-	20	3491	c.3052G>A	c.(3052-3054)GGC>AGC	p.G1018S	ATP2B2_uc003bvv.2_Missense_Mutation_p.G973S|ATP2B2_uc003bvw.2_Missense_Mutation_p.G973S|ATP2B2_uc010hdo.2_Missense_Mutation_p.G723S	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	1018	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						TTGCGCTCGCCGTGGATCTTG	0.572													T	10382254	C	T	10382254	3	4	55	1	0	0	0	0	1	0	0	0	1140	652	23	1	695	1	ATP2B2	3	10382254	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1595009	10382254	187640176	307	41655											
ATP2B2	491	broad.mit.edu	37	chr3	10382279	10382279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttgcgggcgttgatctcGttgaagagctgcatcatgac	12	9	3	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:10382279G>A	uc003bvt.2	-	20	3466	c.3027C>T	c.(3025-3027)AAC>AAT	p.N1009N	ATP2B2_uc003bvv.2_Silent_p.N964N|ATP2B2_uc003bvw.2_Silent_p.N964N|ATP2B2_uc010hdo.2_Silent_p.N714N	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	1009	Helical; (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						CGTTGATCTCGTTGAAGAGCT	0.562													A	10382279	G	A	10382279	2	1	55	1	0	0	0	0	0	0	0	1	1140	1136	40	1		1	ATP2B2	3	10382279	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	25	10382279	187640151	308	41656											
SLC6A6	6533	broad.mit.edu	37	chr3	14523278	14523278	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctgggctggagcctggccCtttcctccatgctctgcgtt	13	14	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:14523278C>A	uc010heg.2	+	21	1942	c.1651C>A	c.(1651-1653)CTT>ATT	p.L551I	SLC6A6_uc003byq.2_Missense_Mutation_p.L551I|SLC6A6_uc003byr.2_RNA	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter	551	Helical; Name=12; (Potential).				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			ovary(1)	1						GAGCCTGGCCCTTTCCTCCAT	0.592													A	14523278	C	A	14523278	3	1	55	1	0	0	0	0	1	0	0	0	14688	681	24	5	1701	5	SLC6A6	3	14523278	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	4140999	14523278	183499152	309	41657											
ZFYVE20	64145	broad.mit.edu	37	chr3	15123964	15123964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgcagtgtgtacagcaGcggatccggtcatcgtcctt	11	12	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:15123964G>A	uc003bzm.1	-	9	1364	c.750C>T	c.(748-750)CGC>CGT	p.R250R	ZFYVE20_uc010hek.1_Silent_p.R250R|ZFYVE20_uc011avn.1_Intron	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	250	FYVE-type.|Necessary for the correct targeting to endosomes.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						GTGTACAGCAGCGGATCCGGT	0.577													A	15123964	G	A	15123964	2	1	55	1	0	0	0	0	0	0	0	1	17663	958	34	2		2	ZFYVE20	3	15123964	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	600686	15123964	182898466	310	41658											
ZFYVE20	64145	broad.mit.edu	37	chr3	15137584	15137584	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaggcacagagggcagAggaagccctccctcacttcc	10	16	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:15137584A>C	uc003bzm.1	-	4	658	c.44T>G	c.(43-45)CTC>CGC	p.L15R	ZFYVE20_uc010hek.1_Missense_Mutation_p.L15R|ZFYVE20_uc011avn.1_Missense_Mutation_p.L15R	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	15	C2H2-type.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						CAGAGGGCAGAGGAAGCCCTC	0.537													C	15137584	A	C	15137584	3	2	55	1	0	0	0	0	1	0	0	0	17663	304	11	5	2354	5	ZFYVE20	3	15137584	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	13620	15137584	182884846	311	41659											
OXNAD1	92106	broad.mit.edu	37	chr3	16312535	16312535	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtattgaggctgcgtcaCtgagattgacactcagcact	10	11	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:16312535C>T	uc003caw.2	+	3	533	c.76C>T	c.(76-78)CTG>TTG	p.L26L	OXNAD1_uc010her.1_RNA|OXNAD1_uc003cax.2_Silent_p.L26L|OXNAD1_uc011awb.1_Silent_p.L44L	NM_138381	NP_612390	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	26							oxidoreductase activity			skin(1)	1						GGCTGCGTCACTGAGATTGAC	0.488													T	16312535	C	T	16312535	2	4	55	1	0	0	0	0	0	0	0	1	11333	564	20	4		4	OXNAD1	3	16312535	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1174951	16312535	181709895	312	41660											
NEK10	152110	broad.mit.edu	37	chr3	27161345	27161345	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgggctcaatcggttctggAgatccctgagataactgaaa	11	8	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:27161345A>T	uc010hfk.2	-	14	1432	c.1203T>A	c.(1201-1203)TCT>TCA	p.S401S	NEK10_uc010hfj.2_Silent_p.S344S			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	1089							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						TCGGTTCTGGAGATCCCTGAG	0.423													T	27161345	A	T	27161345	2	4	55	1	0	0	0	0	0	0	0	1	10322	319	11	5		5	NEK10	3	27161345	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	10848810	27161345	170861085	313	41661											
TRIM71	131405	broad.mit.edu	37	chr3	32860341	32860341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgcagcagctcgggctcGggccgccctttcccggcccg	15	19	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:32860341G>A	uc003cff.2	+	1	832	c.769G>A	c.(769-771)GGG>AGG	p.G257R		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	257					multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						GCTCGGGCTCGGGCCGCCCTT	0.731													A	32860341	G	A	32860341	3	1	55	1	0	0	0	0	1	0	0	0	16541	1116	39	1	771	1	TRIM71	3	32860341	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5698996	32860341	165162089	314	41662											
TRIM71	131405	broad.mit.edu	37	chr3	32932739	32932739	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcgcatccagatcttcacGttcgagggccagttcctcct	8	15	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:32932739G>A	uc003cff.2	+	4	2106	c.2043G>A	c.(2041-2043)ACG>ACA	p.T681T		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	681	NHL 2.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						AGATCTTCACGTTCGAGGGCC	0.582													A	32932739	G	A	32932739	2	1	55	1	0	0	0	0	0	0	0	1	16541	1132	40	1		1	TRIM71	3	32932739	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	72398	32932739	165089691	315	41663											
GLB1	2720	broad.mit.edu	37	chr3	33114135	33114135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgcttcctgagatgtagCgaaatggctggccatccttg	12	9	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:33114135C>T	uc003cfi.1	-	2	263	c.146G>A	c.(145-147)CGC>CAC	p.R49H	GLB1_uc003cfh.1_Missense_Mutation_p.R19H|GLB1_uc003cfj.1_Missense_Mutation_p.R49H|GLB1_uc011axk.1_Missense_Mutation_p.R97H	NM_000404	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1 isoform a preproprotein	49			R -> H (in GM1G3).|R -> C (in GM1G1).		carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			large_intestine(1)	1		Melanoma(143;0.104)				TGAGATGTAGCGAAATGGCTG	0.537													T	33114135	C	T	33114135	3	4	55	1	0	0	0	0	1	0	0	0	6427	768	27	1	1947	1	GLB1	3	33114135	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	181396	33114135	164908295	316	41664											
STAC	6769	broad.mit.edu	37	chr3	36485095	36485095	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggaatacatcttcaagaaGcccactttctgtgatgtctg	8	10	4	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:36485095G>T	uc003cgh.1	+	2	390	c.351G>T	c.(349-351)AAG>AAT	p.K117N	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.K117N	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	117	Phorbol-ester/DAG-type.				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						TCTTCAAGAAGCCCACTTTCT	0.577													T	36485095	G	T	36485095	3	4	55	1	0	0	0	0	1	0	0	0	15238	962	34	5	357	5	STAC	3	36485095	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3370960	36485095	161537335	317	41665											
ITGA9	3680	broad.mit.edu	37	chr3	37560809	37560809	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcggtctatatctatcaTggtgatgccggtgggatagt	16	6	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:37560809T>C	uc003chd.2	+	11	1253	c.1200T>C	c.(1198-1200)CAT>CAC	p.H400H	ITGA9_uc003chc.2_Silent_p.H400H	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	400	Extracellular (Potential).|FG-GAP 6.				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		ATATCTATCATGGTGATGCCG	0.393													C	37560809	T	C	37560809	2	2	55	1	0	0	0	0	0	0	0	1	7883	1461	51	3		3	ITGA9	3	37560809	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	1075714	37560809	160461621	318	41666											
VILL	50853	broad.mit.edu	37	chr3	38035202	38035202	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccaggcatgcagggaggCctccacatatggatctctga	11	13	1	1	rs2364778		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:38035202C>T	uc003chj.2	+	2	325	c.39C>T	c.(37-39)GGC>GGT	p.G13G	VILL_uc003chk.1_Silent_p.G13G|VILL_uc003chl.2_Silent_p.G13G|VILL_uc010hgu.2_5'Flank	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	13					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGCAGGGAGGCCTCCACATAT	0.577													T	38035202	C	T	38035202	2	4	55	1	0	0	0	0	0	0	0	1	17162	726	26	2		2	VILL	3	38035202	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	474393	38035202	159987228	319	41667											
ACAA1	30	broad.mit.edu	37	chr3	38167150	38167150	+	Frame_Shift_Del	DEL	G	G	-													taaggccactgcaccccccaGggggttcaccttctcagggg					rs112913428		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:38167149_38167149AG>A	uc003cht.3	-	10	1313	c.1106_1106CT>T	c.(1105-1107)ctgfs	p.L369fs	ACAA1_uc003chu.3_Frame_Shift_Del_p.L276fs	NM_001607	NP_001598	P09110	THIK_HUMAN	Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	369					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		TGCACCCCCCAGGGGGTTCAC	0.622													-	38167150	G	-	38167150	7	5	55	1	0	1	0	1	0	0	0	0	104	991	35	0	177	0	ACAA1	3	38167150	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	131948	38167150	159855280	320	41668											
TRAK1	22906	broad.mit.edu	37	chr3	42244237	42244237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctccagatcgtgaagccGctggaaggtgatcacgcggg	15	10	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:42244237G>A	uc003cky.2	+	13	1953	c.1737G>A	c.(1735-1737)CCG>CCA	p.P579P	TRAK1_uc011azh.1_Silent_p.P579P|TRAK1_uc011azi.1_Silent_p.P579P|TRAK1_uc003ckz.3_Silent_p.P505P|TRAK1_uc011azj.1_Silent_p.P505P|TRAK1_uc003cla.2_Silent_p.P521P	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	579					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						TCGTGAAGCCGCTGGAAGGTG	0.657													A	42244237	G	A	42244237	2	1	55	1	0	0	0	0	0	0	0	1	16446	1074	38	1		1	TRAK1	3	42244237	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	4077087	42244237	155778193	321	41669											
NKTR	4820	broad.mit.edu	37	chr3	42684075	42684075	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagttcctaccggagtTacaaaagtcacaggtgagct	12	9	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:42684075T>C	uc003clo.2	+	14	4276	c.4129T>C	c.(4129-4131)TAC>CAC	p.Y1377H	NKTR_uc003clp.2_Missense_Mutation_p.Y1124H|NKTR_uc011azp.1_Missense_Mutation_p.Y176H|NKTR_uc003cls.2_Missense_Mutation_p.Y1077H	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1377					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CTACCGGAGTTACAAAAGTCA	0.483													C	42684075	T	C	42684075	3	2	55	1	0	0	0	0	1	0	0	0	10448	1754	61	3	4179	3	NKTR	3	42684075	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	439838	42684075	155338355	322	41670											
CCDC13	152206	broad.mit.edu	37	chr3	42798652	42798652	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatacaatcgcccgttctcGtccaccgtttccctgagctc	6	16	1	1	rs151306549		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:42798652G>A	uc003cly.3	-	3	360	c.276C>T	c.(274-276)GAC>GAT	p.D92D	CCDC13_uc003clz.2_Silent_p.D92D|CCDC13_uc011azq.1_Silent_p.D92D	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	92	Potential.									ovary(1)	1						GCCCGTTCTCGTCCACCGTTT	0.458													A	42798652	G	A	42798652	2	1	55	1	0	0	0	0	0	0	0	1	2765	1136	40	1		1	CCDC13	3	42798652	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	114577	42798652	155223778	323	41671											
SNRK	54861	broad.mit.edu	37	chr3	43390026	43390026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtgcgcatccagcccaGccagctgttgccatgtcatc	10	15	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:43390026G>A	uc003cms.3	+	7	2607	c.2275G>A	c.(2275-2277)GCC>ACC	p.A759T	SNRK_uc003cmt.3_Missense_Mutation_p.A759T|SNRK_uc010hik.2_Missense_Mutation_p.A759T|SNRK_uc011azr.1_Missense_Mutation_p.A553T	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	SNF related kinase	759					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		ATCCAGCCCAGCCAGCTGTTG	0.562													A	43390026	G	A	43390026	3	1	55	1	0	0	0	0	1	0	0	0	14851	971	34	2	2293	2	SNRK	3	43390026	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	591374	43390026	154632404	324	41672											
TGM4	7047	broad.mit.edu	37	chr3	44948665	44948665	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaagacaggcggagagatAtcacctatgagtacaagtat	11	8	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:44948665A>G	uc003coc.3	+	10	1373	c.1300A>G	c.(1300-1302)ATC>GTC	p.I434V		NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	434					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GCGGAGAGATATCACCTATGA	0.502													G	44948665	A	G	44948665	3	3	55	1	0	0	0	0	1	0	0	0	15829	449	16	3	1338	3	TGM4	3	44948665	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1558639	44948665	153073765	325	41673											
LARS2	23395	broad.mit.edu	37	chr3	45436077	45436077	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagcatctacagtgccacGggaaagtggacaaaagagta	12	7	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:45436077G>A	uc003cop.1	+	3	317	c.132G>A	c.(130-132)ACG>ACA	p.T44T	LARS2_uc010hit.1_Silent_p.T44T	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	44					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	ACAGTGCCACGGGAAAGTGGA	0.443													A	45436077	G	A	45436077	2	1	55	1	0	0	0	0	0	0	0	1	8635	1103	39	1		1	LARS2	3	45436077	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	487412	45436077	152586353	326	41674											
NBEAL2	23218	broad.mit.edu	37	chr3	47033984	47033984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtacctgcagtcccgggCgccccccgagggggacagtg	16	15	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:47033984C>T	uc003cqp.2	+	10	1231	c.1052C>T	c.(1051-1053)GCG>GTG	p.A351V	NBEAL2_uc003cqq.1_Intron|NBEAL2_uc010hjm.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	351							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAGTCCCGGGCGCCCCCCGAG	0.637													T	47033984	C	T	47033984	3	4	55	1	0	0	0	0	1	0	0	0	10189	768	27	1	1090	1	NBEAL2	3	47033984	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1597907	47033984	150988446	327	41675											
NBEAL2	23218	broad.mit.edu	37	chr3	47043424	47043424	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacagctgcatgcccaggcCtacgtgagattgcacatgct	10	14	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:47043424C>A	uc003cqp.2	+	31	4976	c.4797C>A	c.(4795-4797)GCC>GCA	p.A1599A	NBEAL2_uc010hjm.1_Silent_p.A976A|NBEAL2_uc010hjn.1_5'UTR	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1599							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ATGCCCAGGCCTACGTGAGAT	0.652													A	47043424	C	A	47043424	2	1	55	1	0	0	0	0	0	0	0	1	10189	668	24	5		5	NBEAL2	3	47043424	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	9440	47043424	150979006	328	41676											
PTPN23	25930	broad.mit.edu	37	chr3	47450550	47450550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttgaccaggtccgggctGccctgcccacaccggccctc	11	20	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:47450550G>A	uc003crf.1	+	16	1711	c.1615G>A	c.(1615-1617)GCC>ACC	p.A539T	PTPN23_uc011baw.1_Missense_Mutation_p.A504T|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.A409T	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	539					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGTCCGGGCTGCCCTGCCCAC	0.667													A	47450550	G	A	47450550	3	1	55	1	0	0	0	0	1	0	0	0	12788	1319	46	2	1677	2	PTPN23	3	47450550	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	407126	47450550	150571880	329	41677											
PTPN23	25930	broad.mit.edu	37	chr3	47450718	47450718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggagatgcgggaccagCgcgtgtccctggagcagcag	17	11	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:47450718C>T	uc003crf.1	+	17	1804	c.1708C>T	c.(1708-1710)CGC>TGC	p.R570C	PTPN23_uc011baw.1_Missense_Mutation_p.R535C|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.R440C	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	570	Potential.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCGGGACCAGCGCGTGTCCCT	0.587													T	47450718	C	T	47450718	3	4	55	1	0	0	0	0	1	0	0	0	12788	768	27	1	1774	1	PTPN23	3	47450718	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	168	47450718	150571712	330	41678											
FBXW12	285231	broad.mit.edu	37	chr3	48419900	48419900	+	Frame_Shift_Del	DEL	A	A	-													tcgccatcactatggatcggAaaaaaactatcaaagtgtgg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:48419899_48419899GA>G	uc003csr.3	+	5	684	c.498_498GA>G	c.(496-498)cggfs	p.R166fs	FBXW12_uc010hjv.3_Frame_Shift_Del_p.R147fs|FBXW12_uc003css.3_Intron|FBXW12_uc010hjw.3_Frame_Shift_Del_p.R65fs|Metazoa_SRP_uc021wxm.1_5'Flank	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	166			R -> W (in dbSNP:rs6442117).							breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTATGGATCGGAAAAAAACTA	0.488													-	48419900	A	-	48419900	7	5	55	1	0	1	0	1	0	0	0	0	5765	247	9	0	554	0	FBXW12	3	48419900	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	969182	48419900	149602530	331	41679											
CELSR3	1951	broad.mit.edu	37	chr3	48691723	48691723	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagcttcaggcctaccTgccatggtgccattatttgc	11	11	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:48691723T>C	uc003cul.2	-	7	5432	c.5151A>G	c.(5149-5151)GCA>GCG	p.A1717A	CELSR3_uc003cuf.1_Silent_p.A1787A|CELSR3_uc010hkg.2_5'Flank	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1717	Extracellular (Potential).|Laminin G-like 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGGCCTACCTGCCATGGTGC	0.567													C	48691723	T	C	48691723	2	2	55	1	0	0	0	0	0	0	0	1	3223	1594	55	3		3	CELSR3	3	48691723	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	271823	48691723	149330707	332	41680											
LAMB2	3913	broad.mit.edu	37	chr3	49168865	49168865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatggcagggtccagcacaCgatagatgacctggagaagc	15	9	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:49168865C>T	uc003cwe.2	-	6	958	c.659G>A	c.(658-660)CGT>CAT	p.R220H	LAMB2_uc003cwf.1_Missense_Mutation_p.R220H	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	220	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTCCAGCACACGATAGATGAC	0.602													T	49168865	C	T	49168865	3	4	55	1	0	0	0	0	1	0	0	0	8611	536	19	1	4845	1	LAMB2	3	49168865	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	477142	49168865	148853565	333	41681											
C3orf62	375341	broad.mit.edu	37	chr3	49308822	49308822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accacacatgtggttcaattCgttttcaaattctatttttc	4	9	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:49308822C>T	uc003cwn.2	-	3	798	c.595G>A	c.(595-597)GAA>AAA	p.E199K	C3orf62_uc003cwm.2_Missense_Mutation_p.E48K|hsa-mir-4271|MI0015879_5'Flank	NM_198562	NP_940964	Q6ZUJ4	CC062_HUMAN	hypothetical protein LOC375341	199											0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGGTTCAATTCGTTTTCAAAT	0.428													T	49308822	C	T	49308822	3	4	55	1	0	0	0	0	1	0	0	0	2238	893	31	1	212	1	C3orf62	3	49308822	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	139957	49308822	148713608	334	41682											
AMT	275	broad.mit.edu	37	chr3	49457752	49457752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaagatgcctccagcctcGttggtaaacagcgacagtgt	10	11	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:49457752G>A	uc003cww.2	-	4	492	c.363C>T	c.(361-363)AAC>AAT	p.N121N	AMT_uc011bcn.1_Intron|AMT_uc003cwx.2_Silent_p.N121N|AMT_uc011bco.1_Intron|AMT_uc003cwy.2_Silent_p.N73N|AMT_uc011bcp.1_Silent_p.N24N|AMT_uc011bcq.1_Silent_p.N65N	NM_000481	NP_000472	P48728	GCST_HUMAN	aminomethyltransferase isoform 1 precursor	121					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CTCCAGCCTCGTTGGTAAACA	0.552													A	49457752	G	A	49457752	2	1	55	1	0	0	0	0	0	0	0	1	589	1136	40	1		1	AMT	3	49457752	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	148930	49457752	148564678	335	41683											
IP6K1	9807	broad.mit.edu	37	chr3	49765665	49765665	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatcttcaggtccaacacGcaggggtacttgaagtggtg	12	11	2	1	rs34964130		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:49765665G>A	uc003cxm.1	-	5	978	c.663C>T	c.(661-663)TGC>TGT	p.C221C	IP6K1_uc003cxn.1_Silent_p.C56C|IP6K1_uc011bcv.1_Silent_p.C56C|IP6K1_uc003cxo.2_Silent_p.C221C	NM_153273	NP_695005	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1 isoform 1	221	Substrate binding (By similarity).				phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						GGTCCAACACGCAGGGGTACT	0.602													A	49765665	G	A	49765665	2	1	55	1	0	0	0	0	0	0	0	1	7788	1079	38	1		1	IP6K1	3	49765665	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	307913	49765665	148256765	336	41684											
SEMA3F	6405	broad.mit.edu	37	chr3	50212595	50212595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccacggatggtgccctcCgcccgatgcccacagcccca	11	19	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:50212595C>T	uc003cyj.2	+	6	721	c.523C>T	c.(523-525)CGC>TGC	p.R175C	SEMA3F_uc003cyk.2_Intron	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	175	Sema.			Missing (in Ref. 2).	axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TGGTGCCCTCCGCCCGATGCC	0.677													T	50212595	C	T	50212595	3	4	55	1	0	0	0	0	1	0	0	0	14029	652	23	1	541	1	SEMA3F	3	50212595	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	446930	50212595	147809835	337	41685											
SEMA3F	6405	broad.mit.edu	37	chr3	50219760	50219760	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacatcgattttatgggcacTgatgcagccatcttccgcac	8	12	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:50219760T>C	uc003cyj.2	+	8	885	c.687T>C	c.(685-687)ACT>ACC	p.T229T	SEMA3F_uc003cyk.2_Silent_p.T198T	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	229	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TTATGGGCACTGATGCAGCCA	0.582													C	50219760	T	C	50219760	2	2	55	1	0	0	0	0	0	0	0	1	14029	1567	55	3		3	SEMA3F	3	50219760	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	7165	50219760	147802670	338	41686											
C3orf45	132228	broad.mit.edu	37	chr3	50324596	50324596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagcctcagccagcttcGgaggctcaactccagtgagg	13	14	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:50324596G>A	uc003cyz.2	+	4	485	c.458G>A	c.(457-459)CGG>CAG	p.R153Q		NM_153215	NP_694947	Q8N112	CC045_HUMAN	hypothetical protein LOC132228	153						integral to membrane				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGCCAGCTTCGGAGGCTCAAC	0.602													A	50324596	G	A	50324596	3	1	55	1	0	0	0	0	1	0	0	0	2231	1116	39	1	472	1	C3orf45	3	50324596	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	104836	50324596	147697834	339	41687											
HYAL3	8372	broad.mit.edu	37	chr3	50330806	50330806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggtgtagaaaggcttcCatctgtcctggatctcgccg	11	12	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:50330806C>T	uc003czd.1	-	4	1398	c.1125G>A	c.(1123-1125)ATG>ATA	p.M375I	HYAL3_uc003czc.1_Missense_Mutation_p.M345I|HYAL3_uc003cze.1_Missense_Mutation_p.M126I|HYAL3_uc003czf.1_Missense_Mutation_p.M96I|HYAL3_uc003czg.1_Missense_Mutation_p.M345I|IFRD2_uc011bdp.1_5'Flank|IFRD2_uc003czb.2_5'Flank	NM_003549	NP_003540	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3 precursor	375	EGF-like.				carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAAAGGCTTCCATCTGTCCTG	0.637													T	50330806	C	T	50330806	3	4	55	1	0	0	0	0	1	0	0	0	7465	594	21	4	132	4	HYAL3	3	50330806	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	6210	50330806	147691624	340	41688											
RAD54L2	23132	broad.mit.edu	37	chr3	51664313	51664313	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgctttaagggcaagtgaCggtccccaactgcctcctcg	10	13	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:51664313C>T	uc011bdt.1	+	5	632	c.507C>T	c.(505-507)GAC>GAT	p.D169D	RAD54L2_uc003dbh.2_Translation_Start_Site|RAD54L2_uc011bdu.1_Intron|RAD54L2_uc003dbj.2_Translation_Start_Site	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	169						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GGGCAAGTGACGGTCCCCAAC	0.468													T	51664313	C	T	51664313	2	4	55	1	0	0	0	0	0	0	0	1	12994	535	19	1		1	RAD54L2	3	51664313	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1333507	51664313	146358117	341	41689											
TWF2	11344	broad.mit.edu	37	chr3	52263163	52263163	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaggcgtgttgcttggggtGcacctcgtcgtagaggaact	16	8	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:52263163G>T	uc003ddd.2	-	9	1088	c.937C>A	c.(937-939)CAC>AAC	p.H313N	TLR9_uc003dda.1_5'Flank|TLR9_uc003ddb.2_Intron|TLR9_uc003ddc.1_Intron|TWF2_uc010hmc.2_3'UTR	NM_007284	NP_009215	Q6IBS0	TWF2_HUMAN	twinfilin-like protein	313	ADF-H 2.					cytoskeleton|perinuclear region of cytoplasm	actin binding|ATP binding			stomach(1)|ovary(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGCTTGGGGTGCACCTCGTCG	0.642													T	52263163	G	T	52263163	3	4	55	1	0	0	0	0	1	0	0	0	16779	1319	46	5	116	5	TWF2	3	52263163	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	598850	52263163	145759267	342	41690											
SEMA3G	56920	broad.mit.edu	37	chr3	52469715	52469715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccctgcccagctcttgccCctggcctgcttgccccggct	10	20	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:52469715C>T	uc003dea.1	-	16	2253	c.2253G>A	c.(2251-2253)AGG>AGA	p.R751R		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	semaphorin sem2 precursor	751					multicellular organismal development	extracellular region|membrane	receptor activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		AGCTCTTGCCCCTGGCCTGCT	0.672													T	52469715	C	T	52469715	2	4	55	1	0	0	0	0	0	0	0	1	14030	622	22	4		4	SEMA3G	3	52469715	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	206552	52469715	145552715	343	41691											
SEMA3G	56920	broad.mit.edu	37	chr3	52475046	52475046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatttgttcaccagcacccGctggcccccagcatcattct	6	18	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:52475046G>A	uc003dea.1	-	8	832	c.832C>T	c.(832-834)CGG>TGG	p.R278W		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	semaphorin sem2 precursor	278	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		ACCAGCACCCGCTGGCCCCCA	0.627													A	52475046	G	A	52475046	3	1	55	1	0	0	0	0	1	0	0	0	14030	1086	38	1	1552	1	SEMA3G	3	52475046	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5331	52475046	145547384	344	41692											
NISCH	11188	broad.mit.edu	37	chr3	52524146	52524146	+	Frame_Shift_Del	DEL	C	C	-													ctcggtggtgttctaccagaCcccagggctggaggtgactg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:52524146delC	uc011beg.1	+	19	3584	c.3512delC	c.(3511-3513)ACCfs	p.T1171fs	NISCH_uc003ded.3_Frame_Shift_Del_p.T1171fs|NISCH_uc003dee.3_Frame_Shift_Del_p.T660fs|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1171					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TTCTACCAGACCCCAGGGCTG	0.617													-	52524146	C	-	52524146	7	5	55	1	0	1	0	1	0	0	0	0	10432	507	18	0	3582	0	NISCH	3	52524146	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	49100	52524146	145498284	345	41693											
PBRM1	55193	broad.mit.edu	37	chr3	52678784	52678784	+	Frame_Shift_Del	DEL	T	T	-													agcctttttcatataaaataTttttttaattgaatttgcat							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:52678784delT	uc003des.2	-	8	847	c.835delA	c.(835-837)ATAfs	p.I279fs	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Frame_Shift_Del_p.I279fs|PBRM1_uc003der.2_Frame_Shift_Del_p.I279fs|PBRM1_uc003det.2_Frame_Shift_Del_p.I279fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.I279fs|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Frame_Shift_Del_p.I279fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.I279fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.I279fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.I279fs|PBRM1_uc003dfb.1_Frame_Shift_Del_p.I177fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	279					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.I279fs*4(2)		kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		atataaaatatttttttaatt	0.299			Mis|N|F|S|D|O		clear cell renal carcinoma|breast								-	52678784	T	-	52678784	7	5	55	1	0	1	0	1	0	0	0	0	11491	1493	52	0	4157	0	PBRM1	3	52678784	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	154638	52678784	145343646	346	41694											
CACNA1D	776	broad.mit.edu	37	chr3	53787603	53787603	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcttcatccatagcactAcgagcagtccaagatgttca	7	12	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:53787603A>G	uc003dgv.3	+	29	3843	c.3680A>G	c.(3679-3681)TAC>TGC	p.Y1227C	CACNA1D_uc003dgu.3_Missense_Mutation_p.Y1247C|CACNA1D_uc003dgy.3_Missense_Mutation_p.Y1227C|CACNA1D_uc003dgw.3_Missense_Mutation_p.Y894C|CACNA1D_uc003dgx.1_Missense_Mutation_p.Y375C	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1227	IV.|Extracellular (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCATAGCACTACGAGCAGTCC	0.527													G	53787603	A	G	53787603	3	3	55	1	0	0	0	0	1	0	0	0	2541	391	14	3	3966	3	CACNA1D	3	53787603	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1108819	53787603	144234827	347	41695											
ACTR8	93973	broad.mit.edu	37	chr3	53913991	53913991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccctcccttaggagccaaCtgtccttgtataggggctgc	11	13	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:53913991C>T	uc003dhd.2	-	2	328	c.269G>A	c.(268-270)AGT>AAT	p.S90N	ACTR8_uc003dhb.2_5'Flank|ACTR8_uc003dhc.2_5'UTR	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	90					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TAGGAGCCAACTGTCCTTGTA	0.493													T	53913991	C	T	53913991	3	4	55	1	0	0	0	0	1	0	0	0	217	565	20	4	1653	4	ACTR8	3	53913991	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	126388	53913991	144108439	348	41696											
CACNA2D3	55799	broad.mit.edu	37	chr3	54922021	54922021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaagaagtcctttttgacGcggtggtgagtgcccccatt	11	11	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:54922021G>A	uc003dhf.2	+	24	2140	c.2092G>A	c.(2092-2094)GCG>ACG	p.A698T	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.A604T|CACNA2D3_uc003dhh.1_RNA|uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	698	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCTTTTTGACGCGGTGGTGAG	0.522													A	54922021	G	A	54922021	3	1	55	1	0	0	0	0	1	0	0	0	2550	1087	38	1	2186	1	CACNA2D3	3	54922021	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1008030	54922021	143100409	349	41697											
C3orf63	23272	broad.mit.edu	37	chr3	56657581	56657581	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcttcatccttttcatcGttttctaaaagagctacatt	3	11	4	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:56657581G>A	uc003did.3	-	23	4415	c.4314C>T	c.(4312-4314)AAC>AAT	p.N1438N	C3orf63_uc003dib.3_Silent_p.N557N|C3orf63_uc003dic.3_Silent_p.N1062N|C3orf63_uc003die.3_3'UTR	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	1499										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		CCTTTTCATCGTTTTCTAAAA	0.313													A	56657581	G	A	56657581	2	1	55	1	0	0	0	0	0	0	0	1	2239	1136	40	1		1	C3orf63	3	56657581	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1735560	56657581	141364849	350	41698											
APPL1	26060	broad.mit.edu	37	chr3	57283436	57283436	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagacagttttacttcacGcagggtggaaatttaatgag	11	6	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:57283436G>A	uc003dio.2	+	11	1059	c.912G>A	c.(910-912)ACG>ACA	p.T304T	APPL1_uc010hnb.2_Silent_p.T304T|APPL1_uc011bey.1_Silent_p.T287T	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH	304	Required for RAB5A binding.|PH.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TTTACTTCACGCAGGGTGGAA	0.458													A	57283436	G	A	57283436	2	1	55	1	0	0	0	0	0	0	0	1	817	1074	38	1		1	APPL1	3	57283436	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	625855	57283436	140738994	351	41699											
FLNB	2317	broad.mit.edu	37	chr3	58089788	58089789	+	Frame_Shift_Ins	INS	-	-	G													tacagcattgccatcacatgINSggggggacaccacattccaa					rs145086495		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:58089787_58089788T>TG	uc003djj.2	+	9	1750_1751	c.1585_1586T>TG	c.(1585-1587)tggfs	p.W529fs	FLNB_uc010hne.2_Frame_Shift_Ins_p.W529fs|FLNB_uc003djk.2_Frame_Shift_Ins_p.W529fs|FLNB_uc010hnf.2_Frame_Shift_Ins_p.W529fs|FLNB_uc003djl.2_Frame_Shift_Ins_p.W360fs|FLNB_uc003djm.2_Frame_Shift_Ins_p.W360fs	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	529					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGCCATCACATGGGGGGGACAC	0.594													G	58089789	-	G	58089788	7	5	55	1	0	1	1	0	0	0	0	0	5934	1357	47	0	1624	0	FLNB	3	58089788	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	806352	58089788	139932642	352	41700											
FLNB	2317	broad.mit.edu	37	chr3	58097960	58097960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacgtgcagttcaacagccCtcttcctggcgatgcagtga	10	13	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:58097960C>T	uc003djj.2	+	18	2825	c.2660C>T	c.(2659-2661)CCT>CTT	p.P887L	FLNB_uc010hne.2_Missense_Mutation_p.P887L|FLNB_uc003djk.2_Missense_Mutation_p.P887L|FLNB_uc010hnf.2_Missense_Mutation_p.P887L|FLNB_uc003djl.2_Missense_Mutation_p.P718L|FLNB_uc003djm.2_Missense_Mutation_p.P718L	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	887	Filamin 7.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TTCAACAGCCCTCTTCCTGGC	0.498													T	58097960	C	T	58097960	3	4	55	1	0	0	0	0	1	0	0	0	5934	681	24	4	2730	4	FLNB	3	58097960	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	8172	58097960	139924470	353	41701											
PXK	54899	broad.mit.edu	37	chr3	58382815	58382815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttatgggcatcttcacgCctccaatgtgatgctcgatg	9	13	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:58382815C>T	uc003djz.1	+	10	971	c.872C>T	c.(871-873)GCC>GTC	p.A291V	PXK_uc003djx.1_Missense_Mutation_p.A291V|PXK_uc003djy.1_Missense_Mutation_p.A274V|PXK_uc003dka.1_Missense_Mutation_p.A291V|PXK_uc003dkb.1_Missense_Mutation_p.A208V|PXK_uc003dkc.1_Missense_Mutation_p.A274V|PXK_uc011bfe.1_Missense_Mutation_p.A258V|PXK_uc010hnj.1_Missense_Mutation_p.A258V|PXK_uc003dkd.1_Missense_Mutation_p.A154V|PXK_uc010hnk.1_Missense_Mutation_p.A65V	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	291	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CATCTTCACGCCTCCAATGTG	0.438													T	58382815	C	T	58382815	3	4	55	1	0	0	0	0	1	0	0	0	12849	739	26	2	910	2	PXK	3	58382815	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	284855	58382815	139639615	354	41702											
PTPRG	5793	broad.mit.edu	37	chr3	62189010	62189010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcggtggtcaccagcaCgctgctcgccggcctggggt	16	15	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:62189010C>T	uc003dlb.2	+	12	2260	c.1541C>T	c.(1540-1542)ACG>ATG	p.T514M	PTPRG_uc003dlc.2_Missense_Mutation_p.T514M	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	514	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GTCACCAGCACGCTGCTCGCC	0.667													T	62189010	C	T	62189010	3	4	55	1	0	0	0	0	1	0	0	0	12802	536	19	1	1587	1	PTPRG	3	62189010	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3806195	62189010	135833420	355	41703											
CADPS	8618	broad.mit.edu	37	chr3	62535607	62535607	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agataggggcatccagctgaGgtacatttcctcccttggcg	12	11	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:62535607G>T	uc003dll.2	-	11	2297	c.1937C>A	c.(1936-1938)CCT>CAT	p.P646H	CADPS_uc003dlk.1_Missense_Mutation_p.P150H|CADPS_uc003dlm.2_Missense_Mutation_p.P646H|CADPS_uc003dln.2_Missense_Mutation_p.P646H	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	646					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATCCAGCTGAGGTACATTTCC	0.473													T	62535607	G	T	62535607	3	4	55	1	0	0	0	0	1	0	0	0	2570	1000	35	5	2277	5	CADPS	3	62535607	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	346597	62535607	135486823	356	41704											
PRICKLE2	166336	broad.mit.edu	37	chr3	64084973	64084973	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaagtagggtccccagcgGtccccaaaggcattctgcaa	12	13	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:64084973G>A	uc003dmf.2	-	8	2875	c.2289C>T	c.(2287-2289)GAC>GAT	p.D763D		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	763						cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GTCCCCAGCGGTCCCCAAAGG	0.602													A	64084973	G	A	64084973	2	1	55	1	0	0	0	0	0	0	0	1	12487	1252	44	4		4	PRICKLE2	3	64084973	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1549366	64084973	133937457	357	41705											
MITF	4286	broad.mit.edu	37	chr3	69987151	69987151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgccggggagcagcgcacCcaacagccccatggctatgc	14	15	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:69987151C>T	uc003dnz.2	+	3	649	c.533C>T	c.(532-534)CCC>CTC	p.P178L	MITF_uc011bgb.1_Missense_Mutation_p.P126L|MITF_uc003doa.2_Missense_Mutation_p.P177L|MITF_uc003dob.2_Missense_Mutation_p.P162L|MITF_uc003dod.2_Missense_Mutation_p.P153L|MITF_uc003doe.2_Missense_Mutation_p.P71L|MITF_uc003dof.2_Missense_Mutation_p.P71L	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	178					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		AGCAGCGCACCCAACAGCCCC	0.493			A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome						T	69987151	C	T	69987151	3	4	55	1	0	0	0	0	1	0	0	0	9596	623	22	4	745	4	MITF	3	69987151	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	5902178	69987151	128035279	358	41706											
ROBO2	6092	broad.mit.edu	37	chr3	77617524	77617524	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaagagctaggagatgTccttgtccgtcttcataatc	10	9	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:77617524T>C	uc003dpy.3	+	13	2553	c.1910T>C	c.(1909-1911)GTC>GCC	p.V637A	ROBO2_uc003dpz.2_Missense_Mutation_p.V641A|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.V641A	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	637	Fibronectin type-III 2.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTAGGAGATGTCCTTGTCCGT	0.458													C	77617524	T	C	77617524	3	2	55	1	0	0	0	0	1	0	0	0	13514	1667	58	3	1962	3	ROBO2	3	77617524	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	7630373	77617524	120404906	359	41707											
ROBO1	6091	broad.mit.edu	37	chr3	78734947	78734947	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcttccagcaacatttaAagtctggcagatgtaataac	8	8	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:78734947A>C	uc003dqe.2	-	10	1499	c.1291T>G	c.(1291-1293)TTA>GTA	p.L431V	ROBO1_uc003dqb.2_Missense_Mutation_p.L392V|ROBO1_uc003dqc.2_Missense_Mutation_p.L395V|ROBO1_uc003dqd.2_Missense_Mutation_p.L395V|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc003dqf.1_Missense_Mutation_p.L110V	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	431	Extracellular (Potential).|Ig-like C2-type 4.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GCAACATTTAAAGTCTGGCAG	0.398													C	78734947	A	C	78734947	3	2	55	1	0	0	0	0	1	0	0	0	13513	11	1	5	3752	5	ROBO1	3	78734947	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1117423	78734947	119287483	360	41708											
GPR15	2838	broad.mit.edu	37	chr3	98251487	98251487	+	Frame_Shift_Del	DEL	T	T	-													tggtggccttaattttcaccTtttttgtccctttgttgagc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:98251486_98251486CT>C	uc011bgy.2	+	0	609	c.609_609CT>C	c.(607-609)accfs	p.T203fs		NM_005290	NP_005281	P49685	GPR15_HUMAN	Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.	203						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.T203T(2)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TAATTTTCACCTTTTTTGTCC	0.448													-	98251487	T	-	98251487	7	5	55	1	0	1	0	1	0	0	0	0	6655	1609	56	0	612	0	GPR15	3	98251487	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	19516540	98251487	99770943	361	41709											
COL8A1	1295	broad.mit.edu	37	chr3	99513830	99513830	+	Frame_Shift_Del	DEL	G	G	-													cccaggacccaaaggtgaccGgggcatgggaggtgttcctg					rs139380413		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:99513830delG	uc003dtg.1	+	5	1330	c.1085delG	c.(1084-1086)CGGfs	p.R362fs	COL8A1_uc003dth.1_Frame_Shift_Del_p.R362fs|COL8A1_uc003dti.1_Frame_Shift_Del_p.R363fs	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	362	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						AAAGGTGACCGGGGCATGGGA	0.627													-	99513830	G	-	99513830	7	5	55	1	0	1	0	1	0	0	0	0	3705	1116	39	0	1091	0	COL8A1	3	99513830	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	1262343	99513830	98508600	362	41710											
IMPG2	50939	broad.mit.edu	37	chr3	100963396	100963397	+	Frame_Shift_Del	DEL	TT	TT	-													ccaccgtcaaatattaactcTttttccatggatgcatctgg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:100963396_100963397delTT	uc003duq.1	-	13	1981_1982	c.1778_1779delAA	c.(1777-1779)AAAfs	p.K593fs	IMPG2_uc011bhe.1_Frame_Shift_Del_p.K456fs	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	593	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						ATATTAACTCTTTTTCCATGGA	0.446													-	100963397	TT	-	100963396	7	5	55	1	0	1	0	1	0	0	0	0	7729	1606	56	0	1974	0	IMPG2	3	100963396	Frame_Shift_Del	DEL	TT	TCGA-BR-7851-01A-11D-2201-08	1449566	100963396	97059034	363	41711											
FAM55C	91775	broad.mit.edu	37	chr3	101525973	101525973	+	Splice_Site	DEL	A	A	-													ttcccaggagaataaaaggtAaaaaaaagaataagcttgat							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:101525972_101525972TA>T	uc003dvn.3	+	6	1559	c.922_splice	c.e6+2	p.E308_splice	FAM55C_uc010hpn.3_Splice_Site_p.E308_splice	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	308						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						GAATAAAAGGTAAAAAAAAGA	0.353													-	101525973	A	-	101525973	8	5	55	1	0	1	0	1	0	0	1	0	5586	377	13	0		0	FAM55C	3	101525973	Splice_Site	DEL	A	TCGA-BR-7851-01A-11D-2201-08	562577	101525973	96496457	364	41712											
SIDT1	54847	broad.mit.edu	37	chr3	113331030	113331030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagatatattatatgggtcGtttcaagataggtgagtcac	10	6	2	3	rs148100303		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:113331030G>A	uc003eak.2	+	19	2606	c.1955G>A	c.(1954-1956)CGT>CAT	p.R652H	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.R652H|SIDT1_uc011big.1_Missense_Mutation_p.R405H|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_Missense_Mutation_p.R105H	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	652	Cytoplasmic (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						TATATGGGTCGTTTCAAGATA	0.408													A	113331030	G	A	113331030	3	1	55	1	0	0	0	0	1	0	0	0	14302	1145	40	1	2029	1	SIDT1	3	113331030	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	11805057	113331030	84691400	365	41713											
IGSF11	152404	broad.mit.edu	37	chr3	118621386	118621386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctataccaaggacccggccCgactctgggctggtaccatg	11	15	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:118621386C>T	uc003ebw.2	-	7	1524	c.1277G>A	c.(1276-1278)CGG>CAG	p.R426Q	IGSF11_uc011biv.1_Missense_Mutation_p.R398Q|IGSF11_uc003ebx.2_Missense_Mutation_p.R402Q|IGSF11_uc003eby.2_Missense_Mutation_p.R425Q|IGSF11_uc003ebz.2_Missense_Mutation_p.R401Q|IGSF11_uc010hqs.2_Missense_Mutation_p.R425Q	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	426	Cytoplasmic (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0						GGACCCGGCCCGACTCTGGGC	0.542													T	118621386	C	T	118621386	3	4	55	1	0	0	0	0	1	0	0	0	7598	652	23	1	22	1	IGSF11	3	118621386	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	5290356	118621386	79401044	366	41714											
POLQ	10721	broad.mit.edu	37	chr3	121260276	121260276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccgcatttccaaaacccGcttcaaaataagtaattctg	4	12	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:121260276G>A	uc003eee.3	-	3	523	c.394C>T	c.(394-396)CGG>TGG	p.R132W		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	132	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TCCAAAACCCGCTTCAAAATA	0.348								DNA_polymerases_(catalytic_subunits)					A	121260276	G	A	121260276	3	1	55	1	0	0	0	0	1	0	0	0	12208	1086	38	1	7490	1	POLQ	3	121260276	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2638890	121260276	76762154	367	41715											
KALRN	8997	broad.mit.edu	37	chr3	124393214	124393214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccttatctcccagcagaacGacctgggaggctgcaatggg	12	13	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:124393214G>A	uc003ehg.2	+	49	7073	c.6946G>A	c.(6946-6948)GAC>AAC	p.D2316N	KALRN_uc003ehi.2_Missense_Mutation_p.D656N|KALRN_uc003ehk.2_Missense_Mutation_p.D619N|KALRN_uc011bjz.1_Missense_Mutation_p.D407N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2315					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						CCAGCAGAACGACCTGGGAGG	0.537													A	124393214	G	A	124393214	3	1	55	1	0	0	0	0	1	0	0	0	7975	1058	37	1	7296	1	KALRN	3	124393214	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3132938	124393214	73629216	368	41716											
ITGB5	3693	broad.mit.edu	37	chr3	124515302	124515302	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcacagaaaggcccatagatCttgccaaactcgctctcgaa	7	13	3	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:124515302C>A	uc003eho.2	-	10	1923	c.1626G>T	c.(1624-1626)AAG>AAT	p.K542N	ITGB5_uc010hrx.2_RNA	NM_002213	NP_002204	P18084	ITB5_HUMAN	integrin, beta 5 precursor	542	Extracellular (Potential).|II.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			skin(2)	2				GBM - Glioblastoma multiforme(114;0.163)		GCCCATAGATCTTGCCAAACT	0.587													A	124515302	C	A	124515302	3	1	55	1	0	0	0	0	1	0	0	0	7898	912	32	5	797	5	ITGB5	3	124515302	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	122088	124515302	73507128	369	41717											
HEG1	57493	broad.mit.edu	37	chr3	124716537	124716537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaagctgtggctacctcgGcaggagtggtccatcttgtt	14	10	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:124716537G>A	uc003ehs.3	-	12	3716	c.3648C>T	c.(3646-3648)TGC>TGT	p.C1216C	HEG1_uc003ehr.3_Silent_p.C70C|HEG1_uc011bke.1_Silent_p.C1316C	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	1216	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						GGCTACCTCGGCAGGAGTGGT	0.552													A	124716537	G	A	124716537	2	1	55	1	0	0	0	0	0	0	0	1	7044	1195	42	2		2	HEG1	3	124716537	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	201235	124716537	73305893	370	41718											
CCDC37	348807	broad.mit.edu	37	chr3	126142183	126142183	+	Frame_Shift_Del	DEL	C	C	-													cgcaggtcgaactctcccatCccccccacgcaggaggacac							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:126142182_126142182TC>T	uc010hsg.1	+	10	1159	c.1100_1100TC>T	c.(1099-1101)atcfs	p.I367fs	CCDC37_uc003eiu.1_Frame_Shift_Del_p.I366fs	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	366										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AACTCTCCCATCCCCCCCACG	0.657													-	126142183	C	-	126142183	7	5	55	1	0	1	0	1	0	0	0	0	2809	845	30	0	1140	0	CCDC37	3	126142183	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	1425646	126142183	71880247	371	41719											
UROC1	131669	broad.mit.edu	37	chr3	126207085	126207085	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcgacccaggtggctccGcgacaggcatctcccacgaa	13	15	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:126207085G>A	uc003eiz.1	-	18	1778	c.1746C>T	c.(1744-1746)CGC>CGT	p.R582R	UROC1_uc010hsi.1_Silent_p.R642R	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	582					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		AGGTGGCTCCGCGACAGGCAT	0.607													A	126207085	G	A	126207085	2	1	55	1	0	0	0	0	0	0	0	1	17025	1074	38	1		1	UROC1	3	126207085	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	64902	126207085	71815345	372	41720											
TPRA1	131601	broad.mit.edu	37	chr3	127292484	127292484	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagagtcgaactgcgtgctCgagtagctggcagctgaggc	16	10	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:127292484C>T	uc003ejl.2	-	10	1293	c.1002G>A	c.(1000-1002)TCG>TCA	p.S334S	TPRA1_uc003ejm.2_RNA|TPRA1_uc003ejo.2_Silent_p.S334S|TPRA1_uc010hsk.2_Missense_Mutation_p.E280K|TPRA1_uc003ejn.2_Silent_p.S334S	NM_016372	NP_057456	Q86W33	TPRA1_HUMAN	G protein-coupled receptor 175 isoform 1	334					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity				0						ACTGCGTGCTCGAGTAGCTGG	0.667													T	127292484	C	T	127292484	2	4	55	1	0	0	0	0	0	0	0	1	16414	893	31	1		1	TPRA1	3	127292484	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1085399	127292484	70729946	373	41721											
MCM2	4171	broad.mit.edu	37	chr3	127323819	127323819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggaggacggcgaggaggacGaggagatgatcgagagcatc	19	7	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:127323819G>A	uc003ejp.2	+	4	550	c.493G>A	c.(493-495)GAG>AAG	p.E165K	MCM2_uc011bkm.1_Missense_Mutation_p.E35K|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.E49K	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	165	Interaction with MYST2 (By similarity).				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						CGAGGAGGACGAGGAGATGAT	0.677													A	127323819	G	A	127323819	3	1	55	1	0	0	0	0	1	0	0	0	9386	1059	37	1	507	1	MCM2	3	127323819	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	31335	127323819	70698611	374	41722											
MCM2	4171	broad.mit.edu	37	chr3	127327353	127327353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagctgcaagccaggagaCgagatagtaagtggccgggg	17	8	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:127327353C>T	uc003ejp.2	+	7	1287	c.1230C>T	c.(1228-1230)GAC>GAT	p.D410D	MCM2_uc011bkm.1_Silent_p.D280D|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Silent_p.D294D	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	410					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						AGCCAGGAGACGAGATAGTAA	0.637													T	127327353	C	T	127327353	2	4	55	1	0	0	0	0	0	0	0	1	9386	535	19	1		1	MCM2	3	127327353	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3534	127327353	70695077	375	41723											
KIAA1257	57501	broad.mit.edu	37	chr3	128690075	128690075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggagcatccgcttatggcCgttctggccacaagacaagc	11	12	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:128690075C>T	uc003elj.3	-	8	1419	c.1223G>A	c.(1222-1224)CGG>CAG	p.R408Q	KIAA1257_uc003elg.1_Intron|KIAA1257_uc003elh.1_Intron|KIAA1257_uc003eli.3_Missense_Mutation_p.R296Q	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	hypothetical protein LOC57501	408											0						CGCTTATGGCCGTTCTGGCCA	0.433											OREG0015784	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	128690075	C	T	128690075	3	4	55	1	0	0	0	0	1	0	0	0	8218	652	23	1	10	1	KIAA1257	3	128690075	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1362722	128690075	69332355	376	41724											
IFT122	55764	broad.mit.edu	37	chr3	129231234	129231234	+	Frame_Shift_Del	DEL	C	C	-													gcacagcctgcccaaggacaCcccctcgggcatctctaaag							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:129231233_129231233AC>A	uc003eml.3	+	24	3324	c.3118_3118AC>A	c.(3118-3120)accfs	p.T1040fs	IFT122_uc003emm.3_Frame_Shift_Del_p.T989fs|IFT122_uc003emn.3_Frame_Shift_Del_p.T930fs|IFT122_uc003emo.3_Frame_Shift_Del_p.T879fs|IFT122_uc003emp.3_Frame_Shift_Del_p.T839fs|IFT122_uc010htc.3_Frame_Shift_Del_p.T982fs|IFT122_uc011bky.2_Frame_Shift_Del_p.T780fs|IFT122_uc011bla.2_Frame_Shift_Del_p.T763fs|IFT122_uc003emr.3_Frame_Shift_Del_p.T742fs|IFT122_uc010hte.3_Frame_Shift_Del_p.T315fs|IFT122_uc003ems.3_Frame_Shift_Del_p.T371fs|IFT122_uc011bkx.1_Frame_Shift_Del_p.T830fs	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	989					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GCCCAAGGACACCCCCTCGGG	0.512													-	129231234	C	-	129231234	7	5	55	1	0	1	0	1	0	0	0	0	7555	507	18	0	3220	0	IFT122	3	129231234	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	541159	129231234	68791196	377	41725											
NPHP3	27031	broad.mit.edu	37	chr3	132438662	132438662	+	Frame_Shift_Del	DEL	T	T	-													tcgaagtatcttctgatacgTtttttgaagtgcctagaata							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:132438662delT	uc003epe.1	-	2	483	c.406delA	c.(406-408)ACGfs	p.T136fs	NCRNA00119_uc003epg.1_5'Flank|NPHP3_uc003epf.1_5'UTR|NCRNA00119_uc010htu.1_5'Flank	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	136	Potential.				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1						TTCTGATACGTTTTTTGAAGT	0.289													-	132438662	T	-	132438662	7	5	55	1	0	1	0	1	0	0	0	0	10580	1725	60	0	3690	0	NPHP3	3	132438662	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	3207428	132438662	65583768	378	41726											
DZIP1L	199221	broad.mit.edu	37	chr3	137787001	137787001	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctggggctcacctcatcccGggccccgaggaaggaggggt	16	13	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:137787001G>T	uc003erq.2	-	13	2187	c.1824C>A	c.(1822-1824)CCC>CCA	p.P608P		NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	608						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						ACCTCATCCCGGGCCCCGAGG	0.682													T	137787001	G	T	137787001	2	4	55	1	0	0	0	0	0	0	0	1	4864	1103	39	5		5	DZIP1L	3	137787001	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5348339	137787001	60235429	379	41727											
ESYT3	83850	broad.mit.edu	37	chr3	138174135	138174140	+	In_Frame_Del	DEL	ACCTTT	ACCTTT	-													agaagagcatccacctgaggAcctttacctttaccaagctc					rs145657841		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:138174134_138174139GACCTTT>G	uc003esk.3	+	2	694_699	c.468_473GACCTTT>G	c.(466-474)aggaccttt>agGt	p.TF159del	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	159						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TCCACCTGAGGACCTTTACCTTTACC	0.534													-	138174140	ACCTTT	-	138174135	7	5	55	1	0	1	0	1	0	0	0	0	5266	275	10	0	479	0	ESYT3	3	138174135	In_Frame_Del	DEL	ACCTTT	TCGA-BR-7851-01A-11D-2201-08	387134	138174135	59848295	380	41728											
CLSTN2	64084	broad.mit.edu	37	chr3	140178491	140178491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcagggtgccaaagtccccGatgggattgtgcccaagaac	14	11	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:140178491G>A	uc003etn.2	+	7	1292	c.1102G>A	c.(1102-1104)GAT>AAT	p.D368N	CLSTN2_uc003etm.2_Missense_Mutation_p.D368N	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	368	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						CAAAGTCCCCGATGGGATTGT	0.577										HNSCC(16;0.037)			A	140178491	G	A	140178491	3	1	55	1	0	0	0	0	1	0	0	0	3562	1058	37	1	1128	1	CLSTN2	3	140178491	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2004356	140178491	57843939	381	41729											
RASA2	5922	broad.mit.edu	37	chr3	141295906	141295906	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgtttctttgctgtagcCgtagtatcacctcatacttt	6	11	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:141295906C>T	uc003etz.1	+	15	1548	c.1548C>T	c.(1546-1548)GCC>GCT	p.A516A	RASA2_uc010huq.1_Silent_p.A516A|RASA2_uc003eua.1_Silent_p.A516A|RASA2_uc011bnc.1_Silent_p.A108A	NM_006506	NP_006497	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	516	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			ovary(2)|lung(2)|breast(1)|skin(1)	6						TTGCTGTAGCCGTAGTATCAC	0.348													T	141295906	C	T	141295906	2	4	55	1	0	0	0	0	0	0	0	1	13061	639	23	1		1	RASA2	3	141295906	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1117415	141295906	56726524	382	41730											
ZIC1	7545	broad.mit.edu	37	chr3	147130352	147130352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggctgtgaccggcgcttcGctaacagcagcgaccgcaag	14	13	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:147130352G>A	uc003ewe.2	+	2	1749	c.1030G>A	c.(1030-1032)GCT>ACT	p.A344T		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	344	C2H2-type 4.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CCGGCGCTTCGCTAACAGCAG	0.547													A	147130352	G	A	147130352	3	1	55	1	0	0	0	0	1	0	0	0	17675	1087	38	1	1036	1	ZIC1	3	147130352	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5834446	147130352	50892078	383	41731											
HLTF	6596	broad.mit.edu	37	chr3	148763957	148763957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctgaataaatactttaCgttctggtaactccaaaaca	6	8	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:148763957C>T	uc003ewq.1	-	18	2200	c.1982G>A	c.(1981-1983)CGT>CAT	p.R661H	HLTF_uc003ewr.1_Missense_Mutation_p.R661H|HLTF_uc003ews.1_Missense_Mutation_p.R660H|HLTF_uc010hve.1_Missense_Mutation_p.R660H	NM_139048	NP_620636	Q14527	HLTF_HUMAN	helicase-like transcription factor	661					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AAATACTTTACGTTCTGGTAA	0.338													T	148763957	C	T	148763957	3	4	55	1	0	0	0	0	1	0	0	0	7215	536	19	1	1079	1	HLTF	3	148763957	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1633605	148763957	49258473	384	41732											
SUCNR1	56670	broad.mit.edu	37	chr3	151598716	151598716	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgataattaagtatcctttcCgagaacaccttctgcaaaag	6	9	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:151598716C>T	uc003ezf.1	+	3	484	c.385C>T	c.(385-387)CGA>TGA	p.R129*		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	129	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GTATCCTTTCCGAGAACACCT	0.373													T	151598716	C	T	151598716	4	4	55	1	0	0	0	0	0	1	0	0	15365	644	23	1	391	1	SUCNR1	3	151598716	Nonsense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2834759	151598716	46423714	385	41733											
TIPARP	25976	broad.mit.edu	37	chr3	156396200	156396200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccacactcaccaagagaaCggaattgaaatttgcatgga	8	9	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:156396200C>T	uc003fav.2	+	2	962	c.714C>T	c.(712-714)AAC>AAT	p.N238N	LOC100287227_uc011boq.1_5'Flank|TIPARP_uc003faw.2_Silent_p.N238N	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	238	C3H1-type.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|breast(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACCAAGAGAACGGAATTGAAA	0.453													T	156396200	C	T	156396200	2	4	55	1	0	0	0	0	0	0	0	1	15921	535	19	1		1	TIPARP	3	156396200	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	4797484	156396200	41626230	386	41734											
IFT80	57560	broad.mit.edu	37	chr3	160083873	160083873	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagaggtttaatgattagCtgcttgcctgctgtataaag	11	5	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:160083873C>T	uc011boy.1	-	6	940	c.507G>A	c.(505-507)CAG>CAA	p.Q169Q	IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Silent_p.Q32Q|IFT80_uc003fdd.1_Intron|IFT80_uc003fde.1_Silent_p.Q32Q	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	WD repeat domain 56	169	WD 3.					cilium axoneme|microtubule basal body				ovary(1)	1			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TAATGATTAGCTGCTTGCCTG	0.398													T	160083873	C	T	160083873	2	4	55	1	0	0	0	0	0	0	0	1	7564	796	28	2		2	IFT80	3	160083873	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3687673	160083873	37938557	387	41735											
SMC4	10051	broad.mit.edu	37	chr3	160132162	160132162	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgctttgctaggaaactgAataaaattacaaaatttatt	5	5	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:160132162A>G	uc003fdh.2	+	9	1242	c.1129A>G	c.(1129-1131)AAT>GAT	p.N377D	IFT80_uc003fda.2_Intron|SMC4_uc003fdf.1_RNA|SMC4_uc003fdg.1_Missense_Mutation_p.N377D|SMC4_uc010hwc.1_Missense_Mutation_p.N141D|SMC4_uc003fdi.2_Missense_Mutation_p.N352D|SMC4_uc003fdj.2_Missense_Mutation_p.N377D|SMC4_uc010hwd.2_Missense_Mutation_p.N377D|SMC4_uc003fdl.2_Missense_Mutation_p.N80D	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	377	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TAGGAAACTGAATAAAATTAC	0.294													G	160132162	A	G	160132162	3	3	55	1	0	0	0	0	1	0	0	0	14785	246	9	3	1159	3	SMC4	3	160132162	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	48289	160132162	37890268	388	41736											
BCHE	590	broad.mit.edu	37	chr3	165548598	165548599	+	Frame_Shift_Del	DEL	TG	TG	-													cagaccacttggtcagagacTgtggctttttgaatcgaagt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:165548597_165548598CTG>C	uc003fem.4	-	1	384_385	c.224_225CAG>G	c.(223-225)cagfs	p.Q75fs	BCHE_uc003fen.4_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	75					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TGGTCAGAGACTGTGGCTTTTT	0.436													-	165548599	TG	-	165548598	7	5	55	1	0	1	0	1	0	0	0	0	1358	1580	55	0	1596	0	BCHE	3	165548598	Frame_Shift_Del	DEL	TG	TCGA-BR-7851-01A-11D-2201-08	5416436	165548598	32473832	389	41737											
WDR49	151790	broad.mit.edu	37	chr3	167223102	167223102	+	Frame_Shift_Del	DEL	T	T	-													agtgactacttactgaatgaTttttttataacttcaccata							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:167223101_167223101AT>A	uc003fev.1	-	12	2126	c.1822_1822AT>T	c.(1822-1824)tcafs	p.S608fs	WDR49_uc003feu.1_Frame_Shift_Del_p.S433fs|WDR49_uc011bpd.1_Frame_Shift_Del_p.S573fs|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	608										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTACTGAATGATTTTTTTATA	0.274													-	167223102	T	-	167223102	7	5	55	1	0	1	0	1	0	0	0	0	17299	1490	52	0	284	0	WDR49	3	167223102	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	1674504	167223102	30799328	390	41738											
MECOM	2122	broad.mit.edu	37	chr3	168838893	168838893	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttgtgttgtttgaggccCgacgaagtggcaaacgtttt	13	7	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:168838893C>T	uc003ffi.3	-	6	788	c.519G>A	c.(517-519)TCG>TCA	p.S173S	MECOM_uc010hwk.1_Silent_p.S196S|MECOM_uc003ffj.3_Silent_p.S238S|MECOM_uc011bpi.1_Silent_p.S174S|MECOM_uc003ffn.3_Silent_p.S173S|MECOM_uc003ffk.2_Silent_p.S173S|MECOM_uc003ffl.2_Silent_p.S333S|MECOM_uc011bpj.1_Silent_p.S361S|MECOM_uc011bpk.1_Silent_p.S163S|MECOM_uc010hwn.2_Silent_p.S361S	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	173	C2H2-type 5.|Interaction with MAPK9, SMAD3 and probably SUV39H1.				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						GTTTGAGGCCCGACGAAGTGG	0.552													T	168838893	C	T	168838893	2	4	55	1	0	0	0	0	0	0	0	1	9422	639	23	1		1	MECOM	3	168838893	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1615791	168838893	29183537	391	41739											
PHC3	80012	broad.mit.edu	37	chr3	169863295	169863295	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcagccacagtggtagcGggtgtgaaaatcagctgtac	13	9	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:169863295G>A	uc010hws.1	-	6	616	c.552C>T	c.(550-552)CCC>CCT	p.P184P	PHC3_uc003fgl.2_Silent_p.P196P|PHC3_uc011bpq.1_Silent_p.P143P|PHC3_uc011bpr.1_Intron|PHC3_uc003fgm.2_Silent_p.P196P	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	polyhomeotic like 3	184	Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CAGTGGTAGCGGGTGTGAAAA	0.463													A	169863295	G	A	169863295	2	1	55	1	0	0	0	0	0	0	0	1	11818	1103	39	1		1	PHC3	3	169863295	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1024402	169863295	28159135	392	41740											
EIF5A2	56648	broad.mit.edu	37	chr3	170624844	170624844	+	Frame_Shift_Del	DEL	T	T	-													gaaggacaaatatcttcataTtttttgcccgtgaaaatatc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:170624843_170624843AT>A	uc003fhd.3	-	2	335	c.205_205AT>T	c.(205-207)tatfs	p.Y69fs		NM_020390	NP_065123	Q9GZV4	IF5A2_HUMAN	Homo sapiens eukaryotic translation initiation factor 5A2 (EIF5A2), mRNA.	69					mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport	cytosol|endoplasmic reticulum membrane|nuclear pore	protein binding|ribosome binding|translation elongation factor activity	p.K68T(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			ATATCTTCATATTTTTTGCCC	0.338													-	170624844	T	-	170624844	7	5	55	1	0	1	0	1	0	0	0	0	5042	1490	52	0	269	0	EIF5A2	3	170624844	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	761549	170624844	27397586	393	41741											
FNDC3B	64778	broad.mit.edu	37	chr3	172058968	172058968	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttcacccacttgaaaccaGgcactttgtacaaactccga	5	15	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:172058968G>T	uc003fhy.2	+	17	2090	c.1918G>T	c.(1918-1920)GGC>TGC	p.G640C	FNDC3B_uc003fhz.3_Missense_Mutation_p.G640C	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	640	Fibronectin type-III 4.					endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CTTGAAACCAGGCACTTTGTA	0.473													T	172058968	G	T	172058968	3	4	55	1	0	0	0	0	1	0	0	0	5970	1000	35	5	1980	5	FNDC3B	3	172058968	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1434124	172058968	25963462	394	41742											
ZMAT3	64393	broad.mit.edu	37	chr3	178748762	178748762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatttgctgcatagtaatttCggagtttcttaccatgattt	7	6	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:178748762C>T	uc003fjg.2	-	3	555	c.296G>A	c.(295-297)CGA>CAA	p.R99Q	ZMAT3_uc010hxa.2_Missense_Mutation_p.R99Q|ZMAT3_uc003fji.2_Missense_Mutation_p.R99Q	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	p53 target zinc finger protein isoform 1	99	Matrin-type 1.				apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			ovary(2)	2	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			ATAGTAATTTCGGAGTTTCTT	0.323													T	178748762	C	T	178748762	3	4	55	1	0	0	0	0	1	0	0	0	17690	884	31	1	589	1	ZMAT3	3	178748762	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	6689794	178748762	19273668	395	41743											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952085	A	G	178952085	3	3	55	1	0	0	0	0	1	0	0	0	11913	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	203323	178952085	19070345	396	41744											
FXR1	8087	broad.mit.edu	37	chr3	180680862	180680862	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggtcgtcggggacctaaTtacacctccggttatggtaa	12	9	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:180680862T>C	uc003fkq.2	+	13	1204	c.1182T>C	c.(1180-1182)AAT>AAC	p.N394N	FXR1_uc003fkp.2_Silent_p.N309N|FXR1_uc003fkr.2_Silent_p.N394N|FXR1_uc011bqj.1_Silent_p.N308N|FXR1_uc003fks.2_Silent_p.N337N|FXR1_uc011bqk.1_Silent_p.N345N|FXR1_uc011bql.1_Silent_p.N381N	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	394					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GGGGACCTAATTACACCTCCG	0.348													C	180680862	T	C	180680862	2	2	55	1	0	0	0	0	0	0	0	1	6115	1490	52	3		3	FXR1	3	180680862	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	1728777	180680862	17341568	397	41745											
B3GNT5	84002	broad.mit.edu	37	chr3	182987674	182987674	+	Frame_Shift_Del	DEL	T	T	-													gttttttagcgagcctcatgTttttttgggaaccaatcgat							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:182987673_182987673GT>G	uc003flm.3	+	1	610	c.87_87GT>G	c.(85-87)atgfs	p.M29fs	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003flk.3_Frame_Shift_Del_p.M29fs|B3GNT5_uc003fll.3_Frame_Shift_Del_p.M29fs|B3GNT5_uc021xic.1_Frame_Shift_Del_p.M29fs	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA.	29					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CGAGCCTCATGTTTTTTTGGG	0.353													-	182987674	T	-	182987674	7	5	55	1	0	1	0	1	0	0	0	0	1260	1725	60	0	90	0	B3GNT5	3	182987674	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	2306812	182987674	15034756	398	41746											
PARL	55486	broad.mit.edu	37	chr3	183551589	183551589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcttagtgcagacagctgCgaggactgtcatgatggcac	13	9	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:183551589C>T	uc003fmd.2	-	8	912	c.853G>A	c.(853-855)GCA>ACA	p.A285T	PARL_uc003fme.2_Missense_Mutation_p.A235T	NM_018622	NP_061092	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like isoform 1	285	Helical; (Potential).				proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity				0	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CAGACAGCTGCGAGGACTGTC	0.468													T	183551589	C	T	183551589	3	4	55	1	0	0	0	0	1	0	0	0	11451	768	27	1	298	1	PARL	3	183551589	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	563915	183551589	14470841	399	41747											
AP2M1	1173	broad.mit.edu	37	chr3	183900562	183900562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatcaagcgcatggcagGcatgaaggaatcgcagatca	13	9	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:183900562G>A	uc011bqx.1	+	11	1236	c.1079G>A	c.(1078-1080)GGC>GAC	p.G360D	AP2M1_uc003fmw.2_Missense_Mutation_p.G358D|AP2M1_uc003fmx.2_Missense_Mutation_p.G288D|AP2M1_uc003fmy.2_Missense_Mutation_p.G358D|AP2M1_uc011bqy.1_Missense_Mutation_p.G230D|AP2M1_uc011bqz.1_Missense_Mutation_p.G176D	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	360	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity				0	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCATGGCAGGCATGAAGGAA	0.537													A	183900562	G	A	183900562	3	1	55	1	0	0	0	0	1	0	0	0	742	1203	42	2	1114	2	AP2M1	3	183900562	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	348973	183900562	14121868	400	41748											
EIF4G1	1981	broad.mit.edu	37	chr3	184049755	184049755	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagactcccctccgagtggAcgttgcagtgctgaaagcgc	13	12	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:184049755A>G	uc003fnp.2	+	32	4697	c.4499A>G	c.(4498-4500)GAC>GGC	p.D1500G	EIF4G1_uc003fnt.2_Missense_Mutation_p.D1211G|EIF4G1_uc003fnq.2_Missense_Mutation_p.D1413G|EIF4G1_uc003fnr.2_Missense_Mutation_p.D1336G|EIF4G1_uc010hxx.2_Missense_Mutation_p.D1507G|EIF4G1_uc003fns.2_Missense_Mutation_p.D1460G|EIF4G1_uc010hxy.2_Missense_Mutation_p.D1507G|EIF4G1_uc003fnv.3_Missense_Mutation_p.D1501G|EIF4G1_uc003fnu.3_Missense_Mutation_p.D1500G|EIF4G1_uc003fnw.2_Missense_Mutation_p.D1507G|EIF4G1_uc003fnx.2_Missense_Mutation_p.D1305G|EIF4G1_uc003fny.3_Missense_Mutation_p.D1304G|EIF4G1_uc003foa.2_Missense_Mutation_p.D172G	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1500	W2.|EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTCCGAGTGGACGTTGCAGTG	0.572													G	184049755	A	G	184049755	3	3	55	1	0	0	0	0	1	0	0	0	5036	275	10	3	4617	3	EIF4G1	3	184049755	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	149193	184049755	13972675	401	41749											
FAM131A	131408	broad.mit.edu	37	chr3	184062581	184062581	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggactcactctacaactcGcccctcacagagtcctgcct	6	18	3	1	rs145026576	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:184062581G>A	uc003fog.2	+	3	2195	c.831G>A	c.(829-831)TCG>TCA	p.S277S	FAM131A_uc003fob.1_Silent_p.S185S|FAM131A_uc003foc.2_Silent_p.S223S|FAM131A_uc003foe.2_Silent_p.S223S	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	277						extracellular region				breast(1)	1	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTACAACTCGCCCCTCACAG	0.672													A	184062581	G	A	184062581	2	1	55	1	0	0	0	0	0	0	0	1	5439	1074	38	1		1	FAM131A	3	184062581	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	12826	184062581	13959849	402	41750											
CHRD	8646	broad.mit.edu	37	chr3	184104496	184104496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcagcgcccccacggggctCgctgggcgcccaactacgac	13	18	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:184104496C>T	uc003fov.2	+	16	2395	c.2149C>T	c.(2149-2151)CGC>TGC	p.R717C	CHRD_uc003fow.2_Missense_Mutation_p.R347C|CHRD_uc003fox.2_Missense_Mutation_p.R717C|CHRD_uc003foy.2_Missense_Mutation_p.R347C|CHRD_uc010hyc.2_Missense_Mutation_p.R307C|CHRD_uc011brr.1_Intron	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	717	VWFC 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCACGGGGCTCGCTGGGCGCC	0.692													T	184104496	C	T	184104496	3	4	55	1	0	0	0	0	1	0	0	0	3372	884	31	1	2211	1	CHRD	3	184104496	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	41915	184104496	13917934	403	41751											
EPHB3	2049	broad.mit.edu	37	chr3	184298288	184298288	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatgaactatgtgcaccgCgacctggctgctcgcaacat	11	12	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:184298288C>T	uc003foz.2	+	12	2708	c.2271C>T	c.(2269-2271)CGC>CGT	p.R757R		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	757	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ATGTGCACCGCGACCTGGCTG	0.577													T	184298288	C	T	184298288	2	4	55	1	0	0	0	0	0	0	0	1	5176	755	27	1		1	EPHB3	3	184298288	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	193792	184298288	13724142	404	41752											
EPHB3	2049	broad.mit.edu	37	chr3	184298382	184298382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctggaggatgacccctccGatcctacctacaccagttcc	7	17	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:184298382G>A	uc003foz.2	+	12	2802	c.2365G>A	c.(2365-2367)GAT>AAT	p.D789N		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	789	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TGACCCCTCCGATCCTACCTA	0.652													A	184298382	G	A	184298382	3	1	55	1	0	0	0	0	1	0	0	0	5176	1058	37	1	2411	1	EPHB3	3	184298382	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	94	184298382	13724048	405	41753											
TRA2B	6434	broad.mit.edu	37	chr3	185643365	185643365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtctatgggagcgggagcGagaccgtgaccgggtataat	16	8	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:185643365G>A	uc003fpv.2	-	3	496	c.220C>T	c.(220-222)CGC>TGC	p.R74C	TRA2B_uc003fpt.2_5'Flank|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_5'UTR|TRA2B_uc003fpw.2_Missense_Mutation_p.R74C	NM_004593	NP_004584	P62995	TRA2B_HUMAN	splicing factor, arginine/serine-rich 10	74	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)	2						GAGCGGGAGCGAGACCGTGAC	0.507													A	185643365	G	A	185643365	3	1	55	1	0	0	0	0	1	0	0	0	16431	1058	37	1	674	1	TRA2B	3	185643365	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1344983	185643365	12379065	406	41754											
FGF12	2257	broad.mit.edu	37	chr3	192125845	192125845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccggcctcttgcggccGctgcagaagcgcactttgct	11	16	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:192125845G>A	uc003fsx.2	-	1	994	c.168C>T	c.(166-168)AGC>AGT	p.S56S	FGF12_uc003fsy.2_Intron	NM_021032	NP_066360	P61328	FGF12_HUMAN	fibroblast growth factor 12 isoform 1	56					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			ovary(1)|skin(1)|lung(1)|pancreas(1)	4	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TCTTGCGGCCGCTGCAGAAGC	0.672													A	192125845	G	A	192125845	2	1	55	1	0	0	0	0	0	0	0	1	5841	1078	38	1		1	FGF12	3	192125845	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	6482480	192125845	5896585	407	41755											
ATP13A4	84239	broad.mit.edu	37	chr3	193151640	193151640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaatgtcttacttgttaCaccaataagagttgtaatgg	7	5	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:193151640C>T	uc003ftd.2	-	25	2944	c.2836G>A	c.(2836-2838)GTA>ATA	p.V946I	ATP13A4_uc010hzi.2_RNA	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	946	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTACTTGTTACACCAATAAGA	0.408													T	193151640	C	T	193151640	3	4	55	1	0	0	0	0	1	0	0	0	1126	478	17	4	778	4	ATP13A4	3	193151640	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1025795	193151640	4870790	408	41756											
CPN2	1370	broad.mit.edu	37	chr3	194062823	194062823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggagaccagagagcgcGttgttgctcagcttcagggt	17	8	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:194062823G>A	uc003fts.2	-	2	699	c.609C>T	c.(607-609)AAC>AAT	p.N203N		NM_001080513	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	203	LRR 5.				protein stabilization	extracellular region	enzyme regulator activity			ovary(5)	5	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CAGAGAGCGCGTTGTTGCTCA	0.612													A	194062823	G	A	194062823	2	1	55	1	0	0	0	0	0	0	0	1	3810	1136	40	1		1	CPN2	3	194062823	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	911183	194062823	3959607	409	41757											
GP5	2814	broad.mit.edu	37	chr3	194118638	194118638	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtccaaaaacaactgcTccaggagcaccatcttatcc	7	13	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:194118638T>C	uc003ftv.1	-	2	405	c.374A>G	c.(373-375)GAG>GGG	p.E125G		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	125	LRR 3.|Extracellular (Potential).				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				skin(2)|breast(1)	3	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		AAACAACTGCTCCAGGAGCAC	0.502													C	194118638	T	C	194118638	3	2	55	1	0	0	0	0	1	0	0	0	6583	1551	54	3	1312	3	GP5	3	194118638	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	55815	194118638	3903792	410	41758											
ACAP2	23527	broad.mit.edu	37	chr3	195000079	195000079	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatttctgtgaatcttgcTggaaacgatttagtttctct	8	6	3	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:195000079T>C	uc003fun.3	-	23	2556	c.2315A>G	c.(2314-2316)CAG>CGG	p.Q772R		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	centaurin, beta 2	772					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)	2						TGAATCTTGCTGGAAACGATT	0.313													C	195000079	T	C	195000079	3	2	55	1	0	0	0	0	1	0	0	0	119	1580	55	3	25	3	ACAP2	3	195000079	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	881441	195000079	3022351	411	41759											
OSTalpha	200931	broad.mit.edu	37	chr3	195955038	195955038	+	Frame_Shift_Del	DEL	G	G	-													tggtcatggtggaaggctttGgggggaaggaggcagtgctg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:195955037_195955037TG>T	uc003fwd.3	+	4	615	c.414_414TG>T	c.(412-414)tttfs	p.F138fs	OSTalpha_uc010iac.1_Frame_Shift_Del_p.F22fs|OSTalpha_uc003fwe.3_Frame_Shift_Del_p.F5fs	NM_152672	NP_689885	Q86UW1	OSTA_HUMAN	Homo sapiens organic solute transporter alpha (OSTalpha), mRNA.	138						integral to membrane|plasma membrane	transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06)	GBM - Glioblastoma multiforme(46;0.00202)		TGGAAGGCTTTGGGGGGAAGG	0.617													-	195955038	G	-	195955038	7	5	55	1	0	1	0	1	0	0	0	0	11300	1348	47	0	433	0	OSTalpha	3	195955038	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	954959	195955038	2067392	412	41760											
RNF168	165918	broad.mit.edu	37	chr3	196210722	196210722	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggatcagattttctggaaTtcaagggagaagccgagata	12	6	3	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:196210722T>C	uc003fwq.2	-	4	1137	c.599A>G	c.(598-600)AAT>AGT	p.N200S	RNF168_uc010iah.2_Missense_Mutation_p.N33S	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	ring finger protein 168	200					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TTTTCTGGAATTCAAGGGAGA	0.348													C	196210722	T	C	196210722	3	2	55	1	0	0	0	0	1	0	0	0	13459	1493	52	3	1128	3	RNF168	3	196210722	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	255684	196210722	1811708	413	41761											
IQCG	84223	broad.mit.edu	37	chr3	197670889	197670890	+	Frame_Shift_Ins	INS	-	-	T													tcatctcagaatgccaaactINStttggaggaaggtttgagtc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:197670888_197670889C>CT	uc003fyo.3	-	2	188_189	c.42_43G>AG	c.(40-45)aaagttfs	p.K14fs	IQCG_uc003fyp.3_Frame_Shift_Ins_p.K14fs|IQCG_uc003fyq.4_Frame_Shift_Ins_p.K14fs	NM_001134435	NP_115639	Q9H095	IQCG_HUMAN	Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA.	14										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GAATGCCAAACTTTTGGAGGAA	0.386													T	197670890	-	T	197670889	7	5	55	1	0	1	1	0	0	0	0	0	7810	1606	56	0	1325	0	IQCG	3	197670889	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	1460167	197670889	351541	414	41762											
TMEM175	84286	broad.mit.edu	37	chr4	944254	944254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggcaacacggattgccGtctacctgatgacctttctc	8	13	3	2	rs151228848	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:944254G>A	uc003gbq.2	+	4	336	c.238G>A	c.(238-240)GTC>ATC	p.V80I	TMEM175_uc010ibl.1_Missense_Mutation_p.V80I|TMEM175_uc003gbp.1_5'UTR|TMEM175_uc003gbr.2_5'UTR|TMEM175_uc003gbu.2_5'UTR|TMEM175_uc003gbs.2_5'UTR|TMEM175_uc003gbt.2_5'UTR|TMEM175_uc003gbv.2_5'UTR|TMEM175_uc010ibm.2_5'Flank	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	80	Helical; (Potential).					integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACGGATTGCCGTCTACCTGAT	0.572													A	944254	G	A	944254	3	1	55	1	0	0	0	0	1	0	0	0	16088	1145	40	1	248	1	TMEM175	4	944254	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08		944254	190210022	415	41763											
MAEA	10296	broad.mit.edu	37	chr4	1309205	1309205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtggaatccatccaggcCgaggacgagagcgccaagct	15	12	0	1	rs142517889		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:1309205C>T	uc003gda.2	+	3	303	c.273C>T	c.(271-273)GCC>GCT	p.A91A	MAEA_uc010ibs.1_Silent_p.A91A|MAEA_uc003gdb.2_Silent_p.A91A|MAEA_uc011bvb.1_Intron|MAEA_uc003gdc.2_Silent_p.A91A|MAEA_uc003gdd.2_RNA|MAEA_uc011bvc.1_Silent_p.A90A|MAEA_uc011bvd.1_Silent_p.A43A|MAEA_uc010ibt.2_5'UTR	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher isoform 1	91	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			CCATCCAGGCCGAGGACGAGA	0.657													T	1309205	C	T	1309205	2	4	55	1	0	0	0	0	0	0	0	1	9153	639	23	1		1	MAEA	4	1309205	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	364951	1309205	189845071	416	41764											
MAEA	10296	broad.mit.edu	37	chr4	1321484	1321484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagaataagagactggacGctgtgaggtaggcattgcgg	17	6	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:1321484G>A	uc003gda.2	+	5	679	c.649G>A	c.(649-651)GCT>ACT	p.A217T	MAEA_uc010ibs.1_Missense_Mutation_p.A176T|MAEA_uc003gdb.2_Missense_Mutation_p.A176T|MAEA_uc011bvb.1_Missense_Mutation_p.A149T|MAEA_uc003gdc.2_Intron|MAEA_uc003gdd.2_Intron|MAEA_uc011bvc.1_Missense_Mutation_p.A216T|MAEA_uc011bvd.1_Missense_Mutation_p.A169T|MAEA_uc010ibt.2_Intron|MAEA_uc010ibu.2_5'Flank	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher isoform 1	217					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			GAGACTGGACGCTGTGAGGTA	0.577													A	1321484	G	A	1321484	3	1	55	1	0	0	0	0	1	0	0	0	9153	1087	38	1	667	1	MAEA	4	1321484	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	12279	1321484	189832792	417	41765											
TACC3	10460	broad.mit.edu	37	chr4	1730104	1730104	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaagaagtggctgcaggCcaaatggccagctcctcgag	14	11	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:1730104C>T	uc003gdo.2	+	4	1083	c.975C>T	c.(973-975)GGC>GGT	p.G325G	TACC3_uc010ibz.2_Silent_p.G325G|TACC3_uc003gdp.2_Intron|TACC3_uc010ica.2_5'Flank	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing	325						centrosome				ovary(1)|central_nervous_system(1)	2		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TGGCTGCAGGCCAAATGGCCA	0.592													T	1730104	C	T	1730104	2	4	55	1	0	0	0	0	0	0	0	1	15500	726	26	2		2	TACC3	4	1730104	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	408620	1730104	189424172	418	41766											
WHSC1	7468	broad.mit.edu	37	chr4	1955098	1955098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcaagacagatgttaagCgctgtgtggtaactcagtgt	13	6	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:1955098C>T	uc003gdz.3	+	12	2361	c.2185C>T	c.(2185-2187)CGC>TGC	p.R729C	WHSC1_uc003geb.3_Missense_Mutation_p.R729C|WHSC1_uc003gec.3_Missense_Mutation_p.R729C|WHSC1_uc003ged.3_Missense_Mutation_p.R729C|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_5'UTR|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_Missense_Mutation_p.R77C	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	729	PHD-type 2.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGATGTTAAGCGCTGTGTGGT	0.438			T	IGH@	MM								T	1955098	C	T	1955098	3	4	55	1	0	0	0	0	1	0	0	0	17359	768	27	1	2303	1	WHSC1	4	1955098	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	224994	1955098	189199178	419	41767											
FAM193A	8603	broad.mit.edu	37	chr4	2664886	2664886	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagaagctgatgatgaAgaagcggacggcgagagtag	15	7	1	6			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:2664886A>T	uc010icl.2	+	10	1428	c.1077A>T	c.(1075-1077)GAA>GAT	p.E359D	FAM193A_uc010ick.2_Missense_Mutation_p.E559D|FAM193A_uc003gfd.2_Missense_Mutation_p.E359D|FAM193A_uc011bvm.1_Missense_Mutation_p.E381D|FAM193A_uc011bvn.1_Missense_Mutation_p.E359D|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.E213D	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	359										ovary(3)	3						CTGATGATGAAGAAGCGGACG	0.498													T	2664886	A	T	2664886	3	4	55	1	0	0	0	0	1	0	0	0	5524	69	3	5	1107	5	FAM193A	4	2664886	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	709788	2664886	188489390	420	41768											
HTT	3064	broad.mit.edu	37	chr4	3201628	3201628	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcttgtcaaccacacCgactaccgctggtgggcaga	11	14	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:3201628C>T	uc011bvq.1	+	42	5689	c.5544C>T	c.(5542-5544)ACC>ACT	p.T1848T		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1846					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCAACCACACCGACTACCGCT	0.617													T	3201628	C	T	3201628	2	4	55	1	0	0	0	0	0	0	0	1	7457	639	23	1		1	HTT	4	3201628	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	536742	3201628	187952648	421	41769											
ADRA2C	152	broad.mit.edu	37	chr4	3768921	3768921	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctaccgccagcccgacggCgccgcctacccgcagtgcgg	12	20	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:3768921C>T	uc003ghm.2	+	1	626	c.588C>T	c.(586-588)GGC>GGT	p.G196G	ADRA2C_uc010icx.2_Silent_p.G196G	NM_000683	NP_000674	P18825	ADA2C_HUMAN	alpha-2C-adrenergic receptor	196	Extracellular (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	AGCCCGACGGCGCCGCCTACC	0.677													T	3768921	C	T	3768921	2	4	55	1	0	0	0	0	0	0	0	1	339	755	27	1		1	ADRA2C	4	3768921	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	567293	3768921	187385355	422	41770											
MSX1	4487	broad.mit.edu	37	chr4	4864851	4864851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggcccatgtgggctacaGcatgtaccacctgacataga	10	13	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:4864851G>A	uc003gif.2	+	2	1128	c.893G>A	c.(892-894)AGC>AAC	p.S298N		NM_002448	NP_002439	P28360	MSX1_HUMAN	msh homeobox 1	292					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GTGGGCTACAGCATGTACCAC	0.706													A	4864851	G	A	4864851	3	1	55	1	0	0	0	0	1	0	0	0	9895	971	34	2	899	2	MSX1	4	4864851	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1095930	4864851	186289425	423	41771											
C4orf50	389197	broad.mit.edu	37	chr4	5961245	5961245	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgacttggagggcaggacAgggcattccgcctttttctt	12	10	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:5961245A>C	uc003git.1	-	7	778	c.688T>G	c.(688-690)TGT>GGT	p.C230G		NM_207405	NP_997288	Q6ZRC1	CD050_HUMAN	hypothetical protein LOC389197	230										pancreas(2)|breast(1)	3						AGGGCAGGACAGGGCATTCCG	0.572													C	5961245	A	C	5961245	3	2	55	1	0	0	0	0	1	0	0	0	2276	188	7	5	146	5	C4orf50	4	5961245	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1096394	5961245	185193031	424	41772											
ABLIM2	84448	broad.mit.edu	37	chr4	8021969	8021969	+	Frame_Shift_Del	DEL	G	G	-													ggtgcctgctggtaggtggaGgggggcggcttgctgtcaga							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:8021968_8021968AG>A	uc003gko.3	-	11	1374	c.1231_1231CT>T	c.(1231-1233)tccfs	p.S411fs	ABLIM2_uc003gkk.3_Frame_Shift_Del_p.S74fs|ABLIM2_uc003gkl.3_Intron|ABLIM2_uc003gkm.4_Intron|ABLIM2_uc003gkp.3_Intron|ABLIM2_uc003gkq.3_Frame_Shift_Del_p.S411fs|ABLIM2_uc003gkr.3_Intron|ABLIM2_uc003gkj.4_Frame_Shift_Del_p.S444fs|ABLIM2_uc003gks.3_Intron	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	411					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						TGGTAGGTGGAGGGGGGCGGC	0.637													-	8021969	G	-	8021969	7	5	55	1	0	1	0	1	0	0	0	0	95	987	35	0	661	0	ABLIM2	4	8021969	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	2060724	8021969	183132307	425	41773											
HTRA3	94031	broad.mit.edu	37	chr4	8293207	8293207	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacacagtgacaacgggcatCgtcagcactgcccagcggga	12	13	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:8293207C>T	uc003gla.2	+	4	1023	c.819C>T	c.(817-819)ATC>ATT	p.I273I	HTRA3_uc003gkz.2_Silent_p.I273I	NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	273	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1						CAACGGGCATCGTCAGCACTG	0.632													T	8293207	C	T	8293207	2	4	55	1	0	0	0	0	0	0	0	1	7455	874	31	1		1	HTRA3	4	8293207	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	271238	8293207	182861069	426	41774											
BOD1L	259282	broad.mit.edu	37	chr4	13604573	13604573	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagagtgatccgcaggggaGgtgctggctgtgctaccttc	16	10	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:13604573G>T	uc003gmz.1	-	10	4068	c.3951C>A	c.(3949-3951)ACC>ACA	p.T1317T	BOD1L_uc010idr.1_Silent_p.T654T	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1317							DNA binding			ovary(5)|breast(1)	6						CCGCAGGGGAGGTGCTGGCTG	0.463													T	13604573	G	T	13604573	2	4	55	1	0	0	0	0	0	0	0	1	1483	987	35	5		5	BOD1L	4	13604573	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5311366	13604573	177549703	427	41775											
CD38	952	broad.mit.edu	37	chr4	15780067	15780067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgagttcagcccggtgtcCggggacaaaccctgctgccg	14	14	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:15780067C>T	uc011bxc.1	+	1	137	c.30C>T	c.(28-30)TCC>TCT	p.S10S	CD38_uc003goj.1_Silent_p.S10S|CD38_uc003gol.1_Silent_p.S10S	NM_001775	NP_001766	P28907	CD38_HUMAN	CD38 antigen	10	Cytoplasmic (Potential).				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			ovary(2)	2						GCCCGGTGTCCGGGGACAAAC	0.652													T	15780067	C	T	15780067	2	4	55	1	0	0	0	0	0	0	0	1	3009	639	23	1		1	CD38	4	15780067	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2175494	15780067	175374209	428	41776											
ZCCHC4	29063	broad.mit.edu	37	chr4	25314435	25314435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacggcggcgggaagatgGcggcctccaggaatgggttt	20	8	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:25314435G>A	uc003grl.3	+	1	40	c.4G>A	c.(4-6)GCG>ACG	p.A2T		NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	2							methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(2)	2		Breast(46;0.0503)				CGGGAAGATGGCGGCCTCCAG	0.647											OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	25314435	G	A	25314435	3	1	55	1	0	0	0	0	1	0	0	0	17587	1203	42	2	6	2	ZCCHC4	4	25314435	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	9534368	25314435	165839841	429	41777											
SLC34A2	10568	broad.mit.edu	37	chr4	25672389	25672389	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagttatcagccaaattgcAatgaacgatgaaaaagcgaa	8	6	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:25672389A>G	uc003grr.2	+	8	942	c.861A>G	c.(859-861)GCA>GCG	p.A287A	SLC34A2_uc003grs.2_Silent_p.A286A|SLC34A2_uc010iev.2_Silent_p.A286A	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	287	Extracellular (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)				GCCAAATTGCAATGAACGATG	0.428													G	25672389	A	G	25672389	2	3	55	1	0	0	0	0	0	0	0	1	14568	117	5	3		3	SLC34A2	4	25672389	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	357954	25672389	165481887	430	41778											
RBPJ	3516	broad.mit.edu	37	chr4	26432370	26432370	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcattccgagaaggttGgagatgggtccggcaaccag	14	9	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:26432370G>T	uc003grx.1	+	12	1480	c.1244G>T	c.(1243-1245)TGG>TTG	p.W415L	RBPJ_uc003gry.1_Missense_Mutation_p.W400L|RBPJ_uc003grz.1_Missense_Mutation_p.W415L|RBPJ_uc003gsa.1_Missense_Mutation_p.W401L|RBPJ_uc003gsb.1_Missense_Mutation_p.W402L|RBPJ_uc003gsc.1_Missense_Mutation_p.L366F|uc003gsd.2_5'Flank	NM_005349	NP_005340	Q06330	SUH_HUMAN	recombining binding protein suppressor of	415	IPT/TIG.				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)	3		Breast(46;0.0503)				CGAGAAGGTTGGAGATGGGTC	0.448													T	26432370	G	T	26432370	3	4	55	1	0	0	0	0	1	0	0	0	13161	1357	47	5	1349	5	RBPJ	4	26432370	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	759981	26432370	164721906	431	41779											
CCKAR	886	broad.mit.edu	37	chr4	26483729	26483729	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcttcctcgggggcctggtcTtttgcaggtaacacccatcg	12	13	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:26483729T>A	uc003gse.1	-	5	971	c.818A>T	c.(817-819)AAG>ATG	p.K273M		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	273	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			lung(3)|pancreas(1)	4		Breast(46;0.0503)			Ceruletide(DB00403)	GGGCCTGGTCTTTTGCAGGTA	0.602													A	26483729	T	A	26483729	3	1	55	1	0	0	0	0	1	0	0	0	2880	1609	56	5	472	5	CCKAR	4	26483729	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	51359	26483729	164670547	432	41780											
RELL1	768211	broad.mit.edu	37	chr4	37636682	37636682	+	Frame_Shift_Del	DEL	C	C	-													cagacgtgcttccctggcgtCccccctggtgacaaaggccc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:37636681_37636681TC>T	uc003gsz.2	-	4	598	c.508_508GA>A	c.(508-510)acgfs	p.T170fs	RELL1_uc010ifc.3_Frame_Shift_Del_p.T170fs	NM_001085399	NP_001078869	Q8IUW5	RELL1_HUMAN	Homo sapiens RELT-like 1 (RELL1), transcript variant 2, mRNA.	170						cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						TTCCCTGGCGTCCCCCCTGGT	0.592													-	37636682	C	-	37636682	7	5	55	1	0	1	0	1	0	0	0	0	13218	842	30	0	316	0	RELL1	4	37636682	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	11152953	37636682	153517594	433	41781											
KLF3	51274	broad.mit.edu	37	chr4	38690460	38690460	+	Frame_Shift_Del	DEL	A	A	-													ccttcttccagcccaccgatAaaaaaatactcacccccttc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:38690459_38690459TA>T	uc003gth.4	+	2	643	c.311_311TA>T	c.(310-312)atafs	p.I104fs	KLF3_uc003gtg.2_Frame_Shift_Del_p.I104fs	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	104	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AGCCCACCGATAAAAAAATAC	0.617													-	38690460	A	-	38690460	7	5	55	1	0	1	0	1	0	0	0	0	8347	352	13	0	318	0	KLF3	4	38690460	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	1053778	38690460	152463816	434	41782											
RFC1	5981	broad.mit.edu	37	chr4	39324961	39324961	+	Frame_Shift_Del	DEL	T	T	-													tagcccaacattatgccaccTttttggtcttgggttcttca							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:39324961delT	uc003gty.1	-	7	853	c.719delA	c.(718-720)AAGfs	p.K240fs	RFC1_uc003gtx.1_Frame_Shift_Del_p.K240fs|RFC1_uc003gtz.1_Frame_Shift_Del_p.K124fs	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	240					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4						TTATGCCACCTTTTTGGTCTT	0.413													-	39324961	T	-	39324961	7	5	55	1	0	1	0	1	0	0	0	0	13244	1623	56	0	2800	0	RFC1	4	39324961	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	634501	39324961	151829315	435	41783											
PDS5A	23244	broad.mit.edu	37	chr4	39921982	39921982	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggactgttcttttcaatAgcacttttgcaaggtcaaag	8	8	4	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:39921982A>C	uc003guv.3	-	7	1232	c.692T>G	c.(691-693)CTA>CGA	p.L231R	PDS5A_uc010ifo.2_Missense_Mutation_p.L191R|PDS5A_uc003guw.3_Missense_Mutation_p.L231R	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	231					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						TCTTTTCAATAGCACTTTTGC	0.259													C	39921982	A	C	39921982	3	2	55	1	0	0	0	0	1	0	0	0	11691	420	15	5	3462	5	PDS5A	4	39921982	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	597021	39921982	151232294	436	41784											
RBM47	54502	broad.mit.edu	37	chr4	40440364	40440364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcggccgcgctggcgtagaCgatcacgtccagcacgccct	13	16	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:40440364C>T	uc003gvc.2	-	4	1257	c.547G>A	c.(547-549)GTC>ATC	p.V183I	RBM47_uc003gvd.2_Missense_Mutation_p.V183I|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.V145I|RBM47_uc003gvg.1_Missense_Mutation_p.V183I	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	183	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(3)	3						CTGGCGTAGACGATCACGTCC	0.637													T	40440364	C	T	40440364	3	4	55	1	0	0	0	0	1	0	0	0	13141	536	19	1	1250	1	RBM47	4	40440364	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	518382	40440364	150713912	437	41785											
SRP72	6731	broad.mit.edu	37	chr4	57335842	57335842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagatcaacaaagatgacGtaactgccctgcattgtaaa	7	9	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:57335842G>A	uc003hbv.2	+	2	173	c.133G>A	c.(133-135)GTA>ATA	p.V45I	SRP72_uc010ihe.2_Missense_Mutation_p.V45I	NM_006947	NP_008878	O76094	SRP72_HUMAN	signal recognition particle 72kDa	45					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)					CAAAGATGACGTAACTGCCCT	0.358													A	57335842	G	A	57335842	3	1	55	1	0	0	0	0	1	0	0	0	15156	1145	40	1	139	1	SRP72	4	57335842	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	16895478	57335842	133818434	438	41786											
EPHA5	2044	broad.mit.edu	37	chr4	66535318	66535318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggagggtccggagtgcgGcgcacaggagaaggcacgtc	18	11	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:66535318G>A	uc003hcy.2	-	1	336	c.143C>T	c.(142-144)GCC>GTC	p.A48V	EPHA5_uc003hcx.2_5'Flank|EPHA5_uc003hcz.2_Missense_Mutation_p.A48V|EPHA5_uc011cah.1_Missense_Mutation_p.A48V|EPHA5_uc011cai.1_Missense_Mutation_p.A48V|EPHA5_uc003hda.2_Missense_Mutation_p.A48V|uc003hdb.2_5'Flank	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	48	Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						CCGGAGTGCGGCGCACAGGAG	0.721										TSP Lung(17;0.13)			A	66535318	G	A	66535318	3	1	55	1	0	0	0	0	1	0	0	0	5170	1203	42	2	3042	2	EPHA5	4	66535318	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	9199476	66535318	124618958	439	41787											
AMBN	258	broad.mit.edu	37	chr4	71467164	71467165	+	Frame_Shift_Ins	INS	-	-	A													ctttgcctgtgcatcccccaINScctctcccatcacagccatc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:71467163_71467164C>CA	uc003hfl.3	+	5	424_425	c.323_324C>CA	c.(322-324)ccafs	p.P108fs		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	108					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			GTGCATCCCCCACCTCTCCCAT	0.475											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	71467165	-	A	71467164	7	5	55	1	0	1	1	0	0	0	0	0	563	146	6	0	346	0	AMBN	4	71467164	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	4931846	71467164	119687112	440	41788											
ENAM	10117	broad.mit.edu	37	chr4	71510476	71510476	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttaagagtataaatgtagaCccacttgatgcagatgaaca	8	6	0	5			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:71510476C>G	uc011caw.1	+	9	3614	c.3333C>G	c.(3331-3333)GAC>GAG	p.D1111E		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	1111					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)			TAAATGTAGACCCACTTGATG	0.428													G	71510476	C	G	71510476	3	3	55	1	0	0	0	0	1	0	0	0	5112	506	18	5	3363	5	ENAM	4	71510476	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	43312	71510476	119643800	441	41789											
IGJ	3512	broad.mit.edu	37	chr4	71527831	71527831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattcggatgtttctctccaCaatgtcctcattaggatctt	6	10	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:71527831C>T	uc003hfn.3	-	2	307	c.166G>A	c.(166-168)GTG>ATG	p.V56M	IGJ_uc010ihz.2_Missense_Mutation_p.V72M	NM_144646	NP_653247	P01591	IGJ_HUMAN	immunoglobulin J chain	56					immune response	extracellular region	antigen binding				0			Lung(101;0.235)			TTTCTCTCCACAATGTCCTCA	0.393													T	71527831	C	T	71527831	3	4	55	1	0	0	0	0	1	0	0	0	7592	478	17	4	325	4	IGJ	4	71527831	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	17355	71527831	119626445	442	41790											
SLC4A4	8671	broad.mit.edu	37	chr4	72215771	72215772	+	Frame_Shift_Del	DEL	TC	TC	-													tgcttgatcgggaggcttctTctctcccacagttggtgggt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:72215771_72215772delTC	uc003hfy.2	+	5	649_650	c.532_533delTC	c.(532-534)TCTfs	p.S178fs	SLC4A4_uc010iic.2_Frame_Shift_Del_p.S178fs|SLC4A4_uc010iib.2_Frame_Shift_Del_p.S178fs|SLC4A4_uc003hfz.2_Frame_Shift_Del_p.S178fs|SLC4A4_uc003hgc.3_Frame_Shift_Del_p.S134fs|SLC4A4_uc003hga.2_Frame_Shift_Del_p.S56fs|SLC4A4_uc003hgb.3_Frame_Shift_Del_p.S134fs	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	178	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GGAGGCTTCTTCTCTCCCACAG	0.455													-	72215772	TC	-	72215771	7	5	55	1	0	1	0	1	0	0	0	0	14656	1783	62	0	667	0	SLC4A4	4	72215771	Frame_Shift_Del	DEL	TC	TCGA-BR-7851-01A-11D-2201-08	687940	72215771	118938505	443	41791											
SLC4A4	8671	broad.mit.edu	37	chr4	72222756	72222756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccatcagattgagacaggCctattgaaacctgaacttaa	8	9	1	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:72222756C>T	uc003hfy.2	+	6	699	c.582C>T	c.(580-582)GGC>GGT	p.G194G	SLC4A4_uc010iic.2_Silent_p.G194G|SLC4A4_uc010iib.2_Silent_p.G194G|SLC4A4_uc003hfz.2_Silent_p.G194G|SLC4A4_uc003hgc.3_Silent_p.G150G|SLC4A4_uc003hga.2_Silent_p.G72G|SLC4A4_uc003hgb.3_Silent_p.G150G	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	194	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTGAGACAGGCCTATTGAAAC	0.408													T	72222756	C	T	72222756	2	4	55	1	0	0	0	0	0	0	0	1	14656	726	26	2		2	SLC4A4	4	72222756	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	6985	72222756	118931520	444	41792											
ANKRD17	26057	broad.mit.edu	37	chr4	73962877	73962877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttccctcttttgcccacGcttaggacttgctactgtta	6	13	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:73962877G>A	uc003hgp.2	-	27	5251	c.5134C>T	c.(5134-5136)CGT>TGT	p.R1712C	ANKRD17_uc003hgo.2_Missense_Mutation_p.R1599C|ANKRD17_uc003hgq.2_Missense_Mutation_p.R1461C|ANKRD17_uc003hgr.2_Missense_Mutation_p.R1711C	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1712					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTTGCCCACGCTTAGGACTT	0.383													A	73962877	G	A	73962877	3	1	55	1	0	0	0	0	1	0	0	0	646	1087	38	1	2709	1	ANKRD17	4	73962877	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1740121	73962877	117191399	445	41793											
ANKRD17	26057	broad.mit.edu	37	chr4	73990925	73990925	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtaggccctacctttcttGtctcggtgctctatactagc	8	12	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:73990925G>A	uc003hgp.2	-	17	3456	c.3339C>T	c.(3337-3339)GAC>GAT	p.D1113D	ANKRD17_uc003hgo.2_Silent_p.D1000D|ANKRD17_uc003hgq.2_Silent_p.D862D|ANKRD17_uc003hgr.2_Silent_p.D1112D|ANKRD17_uc011cbd.1_Silent_p.D678D	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1113					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TACCTTTCTTGTCTCGGTGCT	0.393													A	73990925	G	A	73990925	2	1	55	1	0	0	0	0	0	0	0	1	646	1368	48	4		4	ANKRD17	4	73990925	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	28048	73990925	117163351	446	41794											
ANKRD17	26057	broad.mit.edu	37	chr4	74124065	74124065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactgctggtgccgccgccGccacctccgcctccaccgcc	9	22	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:74124065G>A	uc003hgp.2	-	1	438	c.321C>T	c.(319-321)GGC>GGT	p.G107G	ANKRD17_uc003hgq.2_Silent_p.G107G|ANKRD17_uc003hgr.2_Silent_p.G107G	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	107	Gly-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			Tgccgccgccgccacctccgc	0.383													A	74124065	G	A	74124065	2	1	55	1	0	0	0	0	0	0	0	1	646	1074	38	1		1	ANKRD17	4	74124065	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	133140	74124065	117030211	447	41795											
AFP	174	broad.mit.edu	37	chr4	74313372	74313372	+	Frame_Shift_Del	DEL	A	A	-													taaccaattttcttcaggggAaaaaaatatcttcttggcaa							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:74313371_74313371GA>G	uc003hgz.1	+	7	1083	c.1036_1036GA>G	c.(1036-1038)gaafs	p.E346fs	AFP_uc011cbg.1_Frame_Shift_Del_p.E120fs	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	346	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCTTCAGGGGAAAAAAATAT	0.338									Alpha-Fetoprotein, Hereditary Persistence of				-	74313372	A	-	74313372	7	5	55	1	0	1	0	1	0	0	0	0	363	246	9	0	1067	0	AFP	4	74313372	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	189307	74313372	116840904	448	41796											
AFM	173	broad.mit.edu	37	chr4	74347532	74347533	+	Frame_Shift_Ins	INS	-	-	T													aggttttatttttttcttgtINStttttttgactgaatcccta					rs145217978	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:74347531_74347532G>GT	uc003hhb.3	+	0	70_71	c.39_40G>GT	c.(37-42)ttgtttfs	p.L13fs		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	13					vitamin transport		vitamin E binding	p.F12L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTTTTTCTTGTTTTTTTTGAC	0.312													T	74347533	-	T	74347532	7	5	55	1	0	1	1	0	0	0	0	0	361	1725	60	0	42	0	AFM	4	74347532	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	34160	74347532	116806744	449	41797											
PPEF2	5470	broad.mit.edu	37	chr4	76785641	76785641	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggtctctaggttggatcGgtttcgatacaatgtttcca	10	7	1	0	rs61729786	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:76785641G>A	uc003hix.2	-	16	2317	c.1960C>T	c.(1960-1962)CGA>TGA	p.R654*	PPEF2_uc003hiy.2_RNA	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	654	EF-hand 2.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGGTTGGATCGGTTTCGATAC	0.338													A	76785641	G	A	76785641	4	1	55	1	0	0	0	0	0	1	0	0	12308	1124	39	1	309	1	PPEF2	4	76785641	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2438109	76785641	114368635	450	41798											
SDAD1	55153	broad.mit.edu	37	chr4	76877153	76877153	+	Frame_Shift_Del	DEL	T	T	-													tttctcggaaggaacgcttaTtttttgaccggacattctgg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:76877153delT	uc003hje.3	-	21	2110	c.1991delA	c.(1990-1992)AATfs	p.N664fs	SDAD1_uc003hjf.3_Frame_Shift_Del_p.N567fs|SDAD1_uc011cbr.1_Frame_Shift_Del_p.N627fs	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	664					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			ovary(1)	1			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGAACGCTTATTTTTTGACCG	0.393													-	76877153	T	-	76877153	7	5	55	1	0	1	0	1	0	0	0	0	13950	1493	52	0	80	0	SDAD1	4	76877153	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	91512	76877153	114277123	451	41799											
BMP3	651	broad.mit.edu	37	chr4	81967637	81967637	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acgctccaatttgatgagcaGaccctgaaaaaggcaaggag	11	9	0	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:81967637G>T	uc003hmg.3	+	2	1382	c.1062G>T	c.(1060-1062)CAG>CAT	p.Q354H		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	354					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5						TTGATGAGCAGACCCTGAAAA	0.483													T	81967637	G	T	81967637	3	4	55	1	0	0	0	0	1	0	0	0	1461	933	33	5	1068	5	BMP3	4	81967637	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5090484	81967637	109186639	452	41800											
HPSE	10855	broad.mit.edu	37	chr4	84231184	84231184	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaataggagacatacttacTgatgccatgtaactgaatca	8	7	1	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:84231184T>C	uc003hoj.3	-	6	989	c.890A>G	c.(889-891)CAC>CGC	p.H297R	HPSE_uc010ika.2_Missense_Mutation_p.H239R|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.H40R|HPSE_uc011cct.1_Missense_Mutation_p.H297R|HPSE_uc003hok.3_Missense_Mutation_p.H297R	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN	heparanase precursor	297					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	ACATACTTACTGATGCCATGT	0.318													C	84231184	T	C	84231184	3	2	55	1	0	0	0	0	1	0	0	0	7344	1594	55	3	769	3	HPSE	4	84231184	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	2263547	84231184	106923092	453	41801											
FAM175A	84142	broad.mit.edu	37	chr4	84384689	84384689	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccttttctcaatttctcGttttaatctgtttacatcct	2	11	4	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:84384689G>A	uc003hou.2	-	8	819	c.754C>T	c.(754-756)CGA>TGA	p.R252*	MRPS18C_uc011ccu.1_Intron|FAM175A_uc003hot.2_Nonsense_Mutation_p.R80*|FAM175A_uc003hov.2_Nonsense_Mutation_p.R143*	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN	coiled-coil domain containing 98	252	Potential.				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			kidney(1)	1						TCAATTTCTCGTTTTAATCTG	0.308													A	84384689	G	A	84384689	4	1	55	1	0	0	0	0	0	1	0	0	5497	1153	40	1	483	1	FAM175A	4	84384689	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	153505	84384689	106769587	454	41802											
HSD17B13	345275	broad.mit.edu	37	chr4	88243791	88243791	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgtatacattaccttattaAtatcccacagaaccaatatg	3	9	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:88243791A>T	uc003hqo.2	-	1	266	c.203T>A	c.(202-204)ATT>AAT	p.I68N	HSD17B13_uc010ikk.2_Missense_Mutation_p.I68N	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	68						extracellular region	binding|oxidoreductase activity				0		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TACCTTATTAATATCCCACAG	0.348													T	88243791	A	T	88243791	3	4	55	1	0	0	0	0	1	0	0	0	7382	101	4	5	727	5	HSD17B13	4	88243791	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	3859102	88243791	102910485	455	41803											
HSD17B11	51170	broad.mit.edu	37	chr4	88293942	88293942	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccatggttattcttcgtcAttgcaggaagaaatgccttt	10	8	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:88293942A>G	uc003hqp.2	-	4	709	c.476T>C	c.(475-477)ATG>ACG	p.M159T		NM_016245	NP_057329	Q8NBQ5	DHB11_HUMAN	estradiol 17-beta-dehydrogenase 11	159					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			ovary(2)	2		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		ATTCTTCGTCATTGCAGGAAG	0.393													G	88293942	A	G	88293942	3	3	55	1	0	0	0	0	1	0	0	0	7380	217	8	3	442	3	HSD17B11	4	88293942	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	50151	88293942	102860334	456	41804											
ABCG2	9429	broad.mit.edu	37	chr4	89036197	89036197	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcagggttattataggcCtcacagtgataacctatgaa	9	8	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:89036197C>T	uc003hrg.2	-	8	1348	c.855G>A	c.(853-855)GAG>GAA	p.E285E	ABCG2_uc003hrh.2_Silent_p.E285E|ABCG2_uc003hrf.2_Silent_p.E155E	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G, member 2	285	ABC transporter.|Cytoplasmic (Potential).				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TATTATAGGCCTCACAGTGAT	0.408													T	89036197	C	T	89036197	2	4	55	1	0	0	0	0	0	0	0	1	69	680	24	4		4	ABCG2	4	89036197	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	742255	89036197	102118079	457	41805											
MTTP	4547	broad.mit.edu	37	chr4	100512480	100512480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggattcatgcaaaatagCgaggtctggatttacgaccc	10	9	2	0	rs137997894	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:100512480C>T	uc003hvc.3	+	6	846	c.590C>T	c.(589-591)GCG>GTG	p.A197V	MTTP_uc011cej.1_Missense_Mutation_p.A224V	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	197	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TGCAAAATAGCGAGGTCTGGA	0.343													T	100512480	C	T	100512480	3	4	55	1	0	0	0	0	1	0	0	0	9964	768	27	1	608	1	MTTP	4	100512480	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	11476283	100512480	90641796	458	41806											
TBCK	93627	broad.mit.edu	37	chr4	107154787	107154787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctttatcaattgcatcGtacttggcatgaatagctcc	8	9	2	1	rs56118383	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:107154787G>A	uc010ilv.2	-	16	1835	c.1470C>T	c.(1468-1470)TAC>TAT	p.Y490Y	TBCK_uc003hyb.2_Silent_p.Y233Y|TBCK_uc003hye.2_Silent_p.Y451Y|TBCK_uc003hyc.2_Silent_p.Y427Y|TBCK_uc003hyd.2_Silent_p.Y318Y|TBCK_uc003hyf.2_Silent_p.Y490Y	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	490	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						CAATTGCATCGTACTTGGCAT	0.264													A	107154787	G	A	107154787	2	1	55	1	0	0	0	0	0	0	0	1	15633	1140	40	1		1	TBCK	4	107154787	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	6642307	107154787	83999489	459	41807											
CFI	3426	broad.mit.edu	37	chr4	110670666	110670666	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgactttaccagttgtgctcGctttcctcccacaattcgtt	6	14	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:110670666G>A	uc003hzr.3	-	9	1241	c.1033C>T	c.(1033-1035)CGA>TGA	p.R345*	CFI_uc003hzq.2_Nonsense_Mutation_p.R142*|CFI_uc011cft.1_Nonsense_Mutation_p.R353*|CFI_uc003hzs.3_Nonsense_Mutation_p.R338*	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	345	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AGTTGTGCTCGCTTTCCTCCC	0.403													A	110670666	G	A	110670666	4	1	55	1	0	0	0	0	0	1	0	0	3289	1095	38	1	738	1	CFI	4	110670666	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3515879	110670666	80483610	460	41808											
RRH	10692	broad.mit.edu	37	chr4	110765294	110765294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactcaccaaacaatgcctGtgacaagtattttacccatg	6	11	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:110765294G>A	uc003hzv.2	+	7	989	c.955G>A	c.(955-957)GTG>ATG	p.V319M		NM_006583	NP_006574	O14718	OPSX_HUMAN	peropsin	319	Cytoplasmic.				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	p.V319L(1)		ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		AACAATGCCTGTGACAAGTAT	0.368													A	110765294	G	A	110765294	3	1	55	1	0	0	0	0	1	0	0	0	13680	1377	48	4	981	4	RRH	4	110765294	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	94628	110765294	80388982	461	41809											
EGF	1950	broad.mit.edu	37	chr4	110866263	110866263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgtccctttttggtgacCgtatcttctattcaacatgg	7	10	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:110866263C>T	uc003hzy.3	+	5	1224	c.772C>T	c.(772-774)CGT>TGT	p.R258C	EGF_uc011cfu.1_Missense_Mutation_p.R258C|EGF_uc011cfv.1_Missense_Mutation_p.R258C	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	258	LDL-receptor class B 4.|Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTTTGGTGACCGTATCTTCTA	0.343													T	110866263	C	T	110866263	3	4	55	1	0	0	0	0	1	0	0	0	4962	652	23	1	790	1	EGF	4	110866263	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	100969	110866263	80288013	462	41810											
C4orf21	55345	broad.mit.edu	37	chr4	113544979	113544979	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacactaaaatacctcaagGcatttaagaaacagactctc	4	11	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:113544979G>A	uc003iau.2	-	4	367	c.156C>T	c.(154-156)TGC>TGT	p.C52C	C4orf21_uc003iaw.2_Silent_p.C52C	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATACCTCAAGGCATTTAAGAA	0.259													A	113544979	G	A	113544979	2	1	55	1	0	0	0	0	0	0	0	1	2254	1195	42	2		2	C4orf21	4	113544979	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2678716	113544979	77609297	463	41811											
ANK2	287	broad.mit.edu	37	chr4	114158328	114158328	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgctgacgtacaatccaaGgtacttaaagctgaacacat	7	9	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:114158328G>T	uc003ibe.3	+	6	769	c.669G>T	c.(667-669)AAG>AAT	p.K223N	ANK2_uc003ibd.3_Missense_Mutation_p.K202N|ANK2_uc003ibf.3_Missense_Mutation_p.K223N|ANK2_uc003ibc.2_Missense_Mutation_p.K199N|ANK2_uc011cgb.1_Missense_Mutation_p.K238N	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	223					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)		TACAATCCAAGGTACTTAAAG	0.468													T	114158328	G	T	114158328	3	4	55	1	0	0	0	0	1	0	0	0	621	1014	35	5	716	5	ANK2	4	114158328	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	613349	114158328	76995948	464	41812											
SYNPO2	171024	broad.mit.edu	37	chr4	119948118	119948118	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctgggcctgtggttgaGctgcaactgtccctttcaca	11	13	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:119948118G>A	uc003icm.3	+	3	790	c.594G>A	c.(592-594)GAG>GAA	p.E198E	SYNPO2_uc010ina.2_Silent_p.E198E|SYNPO2_uc010inb.2_Silent_p.E198E|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Silent_p.E126E	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	198						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						CTGTGGTTGAGCTGCAACTGT	0.552													A	119948118	G	A	119948118	2	1	55	1	0	0	0	0	0	0	0	1	15454	962	34	2		2	SYNPO2	4	119948118	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5789790	119948118	71206158	465	41813											
SPRY1	10252	broad.mit.edu	37	chr4	124322834	124322835	+	Frame_Shift_Ins	INS	-	-	GA													ccgtcagagattagactatgINSagagagagattcagcctact							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:124322833_124322834T>TGA	uc003ifa.3	+	1	274_275	c.87_88T>TGA	c.(85-90)tatgagfs	p.Y29fs	SPRY1_uc003ifb.3_Frame_Shift_Ins_p.Y29fs|SPRY1_uc021xro.1_Frame_Shift_Ins_p.Y29fs	NM_199327	NP_955359	O43609	SPY1_HUMAN	Homo sapiens sprouty homolog 1, antagonist of FGF signaling (Drosophila) (SPRY1), transcript variant 2, mRNA.	29					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane		p.D28N(1)		NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						GATTAGACTATGAGAGAGAGAT	0.47													GA	124322835	-	GA	124322834	7	5	55	1	0	1	1	0	0	0	0	0	15104	1291	45	0	90	0	SPRY1	4	124322834	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	4374716	124322834	66831442	466	41814											
FAT4	79633	broad.mit.edu	37	chr4	126336508	126336508	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggctacagacaaaggTcaaccatctctctcttcatc	8	12	4	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:126336508T>A	uc003ifj.3	+	5	6390	c.6390T>A	c.(6388-6390)GGT>GGA	p.G2130G	FAT4_uc011cgp.1_Silent_p.G428G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2130	Cadherin 20.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CAGACAAAGGTCAACCATCTC	0.408													A	126336508	T	A	126336508	2	1	55	1	0	0	0	0	0	0	0	1	5692	1654	58	5		5	FAT4	4	126336508	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	2013674	126336508	64817768	467	41815											
FAT4	79633	broad.mit.edu	37	chr4	126336623	126336623	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agattaatgaaaacacacttActggaacagatataatacaa	5	6	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:126336623A>G	uc003ifj.3	+	5	6505	c.6505A>G	c.(6505-6507)ACT>GCT	p.T2169A	FAT4_uc011cgp.1_Missense_Mutation_p.T467A	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2169	Cadherin 21.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AAACACACTTACTGGAACAGA	0.378													G	126336623	A	G	126336623	3	3	55	1	0	0	0	0	1	0	0	0	5692	391	14	3	6523	3	FAT4	4	126336623	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	115	126336623	64817653	468	41816											
MFSD8	256471	broad.mit.edu	37	chr4	128842780	128842780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgatgtaaggaactgggCcagatgaatcaccggggtgt	15	7	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:128842780C>T	uc003ifp.2	-	12	1412	c.1249G>A	c.(1249-1251)GCC>ACC	p.A417T	MFSD8_uc011cgu.1_Missense_Mutation_p.A372T|MFSD8_uc011cgv.1_3'UTR	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing	417	Helical; (Potential).				cell death|transmembrane transport	integral to membrane|lysosomal membrane				ovary(1)|liver(1)	2						AGGAACTGGGCCAGATGAATC	0.433													T	128842780	C	T	128842780	3	4	55	1	0	0	0	0	1	0	0	0	9538	739	26	2	315	2	MFSD8	4	128842780	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2506157	128842780	62311496	469	41817											
MFSD8	256471	broad.mit.edu	37	chr4	128863292	128863292	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagtagcaccagcagtatatGatctaacaactgctacattt	6	9	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:128863292G>A	uc003ifp.2	-	6	624	c.461C>T	c.(460-462)TCA>TTA	p.S154L	MFSD8_uc011cgu.1_Missense_Mutation_p.S109L|MFSD8_uc011cgv.1_Intron|MFSD8_uc011cgw.1_Intron|MFSD8_uc011cgx.1_Missense_Mutation_p.S109L	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing	154	Cytoplasmic (Potential).				cell death|transmembrane transport	integral to membrane|lysosomal membrane				ovary(1)|liver(1)	2						AGCAGTATATGATCTAACAAC	0.343													A	128863292	G	A	128863292	3	1	55	1	0	0	0	0	1	0	0	0	9538	1294	45	4	1127	4	MFSD8	4	128863292	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	20512	128863292	62290984	470	41818											
SETD7	80854	broad.mit.edu	37	chr4	140450256	140450256	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagccagtttgccttctatcAtctctccatcaataaatttc	3	12	4	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:140450256A>G	uc003ihw.2	-	4	777	c.491T>C	c.(490-492)ATG>ACG	p.M164T		NM_030648	NP_085151	Q8WTS6	SETD7_HUMAN	SET domain-containing protein 7	164					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.156)					GCCTTCTATCATCTCTCCATC	0.458													G	140450256	A	G	140450256	3	3	55	1	0	0	0	0	1	0	0	0	14136	217	8	3	629	3	SETD7	4	140450256	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	11586964	140450256	50704020	471	41819											
SETD7	80854	broad.mit.edu	37	chr4	140454490	140454490	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaactccctggccctgcaaGgcatcatccacataataccc	5	16	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:140454490G>T	uc003ihw.2	-	3	487	c.201C>A	c.(199-201)GCC>GCA	p.A67A	SETD7_uc003ihx.2_Silent_p.A67A	NM_030648	NP_085151	Q8WTS6	SETD7_HUMAN	SET domain-containing protein 7	67	MORN 2.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.156)					GGCCCTGCAAGGCATCATCCA	0.488													T	140454490	G	T	140454490	2	4	55	1	0	0	0	0	0	0	0	1	14136	987	35	5		5	SETD7	4	140454490	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	4234	140454490	50699786	472	41820											
MAML3	55534	broad.mit.edu	37	chr4	140641218	140641218	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccctgggcttggttatgtgtGatgctcatgccactttggtt	12	9	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:140641218G>A	uc003ihz.1	-	7	3413	c.2661C>T	c.(2659-2661)ATC>ATT	p.I887I	MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Silent_p.I355I	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	888	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					GGTTATGTGTGATGCTCATGC	0.537													A	140641218	G	A	140641218	2	1	55	1	0	0	0	0	0	0	0	1	9207	1280	45	4		4	MAML3	4	140641218	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	186728	140641218	50513058	473	41821											
TBC1D9	23158	broad.mit.edu	37	chr4	141598220	141598220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcagccggaaaagtgcaCggtatctctcactctttgcc	11	12	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:141598220C>T	uc010ioj.2	-	6	1159	c.887G>A	c.(886-888)CGT>CAT	p.R296H		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	296	GRAM 2.					intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GAAAAGTGCACGGTATCTCTC	0.408													T	141598220	C	T	141598220	3	4	55	1	0	0	0	0	1	0	0	0	15624	536	19	1	2977	1	TBC1D9	4	141598220	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	957002	141598220	49556056	474	41822											
ANAPC10	10393	broad.mit.edu	37	chr4	145916685	145916685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatctgtatcatgaatgtaCgagttggcttcttatgattg	9	6	3	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:145916685C>T	uc003iju.3	-	6	553	c.398G>A	c.(397-399)CGT>CAT	p.R133H	ANAPC10_uc003ijv.3_Missense_Mutation_p.R133H|ANAPC10_uc003ijw.3_Missense_Mutation_p.R133H	NM_014885	NP_055700	Q9UM13	APC10_HUMAN	anaphase promoting complex subunit 10	133	DOC.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin-protein ligase activity				0	all_hematologic(180;0.151)					CATGAATGTACGAGTTGGCTT	0.408													T	145916685	C	T	145916685	3	4	55	1	0	0	0	0	1	0	0	0	599	536	19	1	163	1	ANAPC10	4	145916685	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	4318465	145916685	45237591	475	41823											
ABCE1	6059	broad.mit.edu	37	chr4	146041302	146041302	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttatggtgatgctgggggaaAatggtaagttttctgttttg	14	2	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:146041302A>T	uc003ijx.2	+	11	1581	c.1141A>T	c.(1141-1143)AAT>TAT	p.N381Y	ABCE1_uc003ijy.2_Missense_Mutation_p.N381Y|ABCE1_uc010iot.2_RNA	NM_001040876	NP_001035809	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E, member 1	381	ABC transporter 2.|ATP 2 (Potential).				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			skin(1)	1	all_hematologic(180;0.151)					GCTGGGGGAAAATGGTAAGTT	0.308													T	146041302	A	T	146041302	3	4	55	1	0	0	0	0	1	0	0	0	64	14	1	5	1179	5	ABCE1	4	146041302	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	124617	146041302	45112974	476	41824											
ZNF827	152485	broad.mit.edu	37	chr4	146824250	146824250	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatccggtcctccagagacAacttatagttctcctggact	9	12	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:146824250A>G	uc003ikn.2	-	2	209	c.161T>C	c.(160-162)TTG>TCG	p.L54S	ZNF827_uc003ikm.2_Missense_Mutation_p.L54S|ZNF827_uc010iox.2_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					CTCCAGAGACAACTTATAGTT	0.577													G	146824250	A	G	146824250	3	3	55	1	0	0	0	0	1	0	0	0	18177	131	5	3	3120	3	ZNF827	4	146824250	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	782948	146824250	44330026	477	41825											
NR3C2	4306	broad.mit.edu	37	chr4	149356399	149356399	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaaagattggtctctagcCgatcgtgataaagatattgt	11	5	1	3	rs146153919		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:149356399C>A	uc003ilj.3	-	2	1948	c.1614G>T	c.(1612-1614)TCG>TCT	p.S538S	NR3C2_uc003ilk.3_Silent_p.S538S|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	538	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGTCTCTAGCCGATCGTGATA	0.478													A	149356399	C	A	149356399	2	1	55	1	0	0	0	0	0	0	0	1	10631	639	23	5		5	NR3C2	4	149356399	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2532149	149356399	41797877	478	41826											
FBXW7	55294	broad.mit.edu	37	chr4	153244281	153244281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactgtaaacaggtcacagCactctgatgcttgttgggac	11	9	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:153244281C>T	uc003ims.2	-	12	2025	c.1876G>A	c.(1876-1878)GCT>ACT	p.A626T	FBXW7_uc011cii.1_Missense_Mutation_p.A626T|FBXW7_uc003imt.2_Missense_Mutation_p.A626T|FBXW7_uc011cih.1_Missense_Mutation_p.A450T|FBXW7_uc003imq.2_Missense_Mutation_p.A546T|FBXW7_uc003imr.2_Missense_Mutation_p.A508T	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	626	WD 7.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CAGGTCACAGCACTCTGATGC	0.343			Mis|N|D|F		colorectal|endometrial|T-ALL								T	153244281	C	T	153244281	3	4	55	1	0	0	0	0	1	0	0	0	5769	710	25	2	251	2	FBXW7	4	153244281	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3887882	153244281	37909995	479	41827											
FBXW7	55294	broad.mit.edu	37	chr4	153258983	153258983	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaatgaaatgaagtctcGttgaaactggggttctatca	11	6	3	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:153258983G>A	uc003ims.2	-	5	981	c.832C>T	c.(832-834)CGA>TGA	p.R278*	FBXW7_uc011cii.1_Nonsense_Mutation_p.R278*|FBXW7_uc003imt.2_Nonsense_Mutation_p.R278*|FBXW7_uc011cih.1_Nonsense_Mutation_p.R102*|FBXW7_uc003imq.2_Nonsense_Mutation_p.R198*|FBXW7_uc003imr.2_Nonsense_Mutation_p.R160*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	278	F-box.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R278*(7)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGAAGTCTCGTTGAAACTGG	0.353			Mis|N|D|F		colorectal|endometrial|T-ALL								A	153258983	G	A	153258983	4	1	55	1	0	0	0	0	0	1	0	0	5769	1153	40	1	1323	1	FBXW7	4	153258983	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	14702	153258983	37895293	480	41828											
FHDC1	85462	broad.mit.edu	37	chr4	153897017	153897019	+	In_Frame_Del	DEL	TGT	TGT	-													aaacccaccaaaaggaaagaTgttgtagcaccaaagagagg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:153897016_153897018ATGT>A	uc003inf.2	+	10	2648_2650	c.2573_2575ATGT>A	c.(2572-2577)gatgtt>gAtt	p.V860del		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	860					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AAAAGGAAAGATGTTGTAGCACC	0.665													-	153897019	TGT	-	153897017	7	5	55	1	0	1	0	1	0	0	0	0	5876	1461	51	0	2616	0	FHDC1	4	153897017	In_Frame_Del	DEL	TGT	TCGA-BR-7851-01A-11D-2201-08	638034	153897017	37257259	481	41829											
GRIA2	2891	broad.mit.edu	37	chr4	158284174	158284174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggttacaacgtatatgGcatcgaaagtgttaaaattt	10	4	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:158284174G>A	uc003ipm.3	+	15	3089	c.2630G>A	c.(2629-2631)GGC>GAC	p.G877D	GRIA2_uc011cit.1_Missense_Mutation_p.G830D|GRIA2_uc003ipl.3_Missense_Mutation_p.G877D|GRIA2_uc003ipk.3_Missense_Mutation_p.G830D|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	877	Cytoplasmic (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AACGTATATGGCATCGAAAGT	0.373													A	158284174	G	A	158284174	3	1	55	1	0	0	0	0	1	0	0	0	6768	1203	42	2	2807	2	GRIA2	4	158284174	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	4387157	158284174	32870102	482	41830											
FSTL5	56884	broad.mit.edu	37	chr4	162307362	162307362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagacatatggagtgcccGtcacatcactattgaaccca	9	11	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:162307362G>A	uc003iqh.2	-	16	2517	c.2081C>T	c.(2080-2082)ACG>ATG	p.T694M	FSTL5_uc003iqi.2_Missense_Mutation_p.T693M|FSTL5_uc010iqv.2_Missense_Mutation_p.T684M|uc010iqu.1_RNA	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	694						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGGAGTGCCCGTCACATCACT	0.473													A	162307362	G	A	162307362	3	1	55	1	0	0	0	0	1	0	0	0	6080	1145	40	1	466	1	FSTL5	4	162307362	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	4023188	162307362	28846914	483	41831											
DDX60L	91351	broad.mit.edu	37	chr4	169317201	169317201	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagaatcttcagattctccAggaaattaatatattcagct	5	9	4	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:169317201A>G	uc003irq.3	-	27	3787	c.3566T>C	c.(3565-3567)CTG>CCG	p.L1189P	DDX60L_uc003irr.1_Missense_Mutation_p.L1190P|DDX60L_uc003irs.1_Missense_Mutation_p.L884P	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1189							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CAGATTCTCCAGGAAATTAAT	0.338													G	169317201	A	G	169317201	3	3	55	1	0	0	0	0	1	0	0	0	4379	188	7	3	1602	3	DDX60L	4	169317201	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	7009839	169317201	21837075	484	41832											
GALNTL6	442117	broad.mit.edu	37	chr4	173734826	173734826	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgtactacaaaagaaTccccatccctccagagctcc	6	14	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:173734826T>A	uc003isv.2	+	7	1611	c.875T>A	c.(874-876)ATC>AAC	p.I292N		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	292	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						TACAAAAGAATCCCCATCCCT	0.562													A	173734826	T	A	173734826	3	1	55	1	0	0	0	0	1	0	0	0	6225	1435	50	5	897	5	GALNTL6	4	173734826	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	4417625	173734826	17419450	485	41833											
ODZ3	55714	broad.mit.edu	37	chr4	183714319	183714319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccatttactgaacccaaGtaacagtgcgcgtctgacac	7	14	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:183714319G>A	uc003ivd.1	+	25	6531	c.6494G>A	c.(6493-6495)AGT>AAT	p.S2165N		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2165	Extracellular (Potential).|YD 19.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CTGAACCCAAGTAACAGTGCG	0.453													A	183714319	G	A	183714319	3	1	55	1	0	0	0	0	1	0	0	0	10836	1029	36	4	6592	4	ODZ3	4	183714319	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	9979493	183714319	7439957	486	41834											
C4orf41	60684	broad.mit.edu	37	chr4	184585065	184585065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtggaattatgttgccgGcctatggcctttgttactct	10	10	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:184585065G>A	uc003ivx.2	+	2	221	c.45G>A	c.(43-45)CGG>CGA	p.R15R	C4orf41_uc003ivw.2_Silent_p.R15R|C4orf41_uc010isc.2_5'UTR	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	15											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		TATGTTGCCGGCCTATGGCCT	0.443													A	184585065	G	A	184585065	2	1	55	1	0	0	0	0	0	0	0	1	2270	1190	42	2		2	C4orf41	4	184585065	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	870746	184585065	6569211	487	41835											
IRF2	3660	broad.mit.edu	37	chr4	185350182	185350182	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gttggagtttatctgctcctCcagccacgggcgcatgcgca	12	13	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:185350182C>A	uc003iwf.3	-	2	237	c.37G>T	c.(37-39)GAG>TAG	p.E13*		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	13	IRF tryptophan pentad repeat.				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		ATCTGCTCCTCCAGCCACGGG	0.582													A	185350182	C	A	185350182	4	1	55	1	0	0	0	0	0	1	0	0	7828	864	30	5	1044	5	IRF2	4	185350182	Nonsense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	765117	185350182	5804094	488	41836											
ACSL1	2180	broad.mit.edu	37	chr4	185678331	185678331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcgacctgaaatagttcCgcagctctggccttttcgcc	9	14	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:185678331C>T	uc003iww.2	-	21	2339	c.2045G>A	c.(2044-2046)CGG>CAG	p.R682Q	ACSL1_uc011ckm.1_Missense_Mutation_p.R511Q|ACSL1_uc003iwt.1_Missense_Mutation_p.R682Q|ACSL1_uc003iwu.1_Missense_Mutation_p.R682Q|ACSL1_uc011ckn.1_Missense_Mutation_p.R648Q|ACSL1_uc003iws.1_Missense_Mutation_p.R242Q	NM_001995	NP_001986	P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	682	Cytoplasmic (Potential).				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			ovary(2)	2		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GAAATAGTTCCGCAGCTCTGG	0.443													T	185678331	C	T	185678331	3	4	55	1	0	0	0	0	1	0	0	0	177	652	23	1	55	1	ACSL1	4	185678331	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	328149	185678331	5475945	489	41837											
FAT1	2195	broad.mit.edu	37	chr4	187510153	187510153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaaactgattgctgaattCgggcggtaacggtggtagct	13	7	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:187510153C>T	uc003izf.2	-	27	13548	c.13360G>A	c.(13360-13362)GAA>AAA	p.E4454K	FAT1_uc010isn.2_Missense_Mutation_p.E101K|FAT1_uc003ize.2_Missense_Mutation_p.E345K	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4454	Cytoplasmic (Potential).				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TTGCTGAATTCGGGCGGTAAC	0.527										HNSCC(5;0.00058)			T	187510153	C	T	187510153	3	4	55	1	0	0	0	0	1	0	0	0	5689	893	31	1	410	1	FAT1	4	187510153	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1831822	187510153	3644123	490	41838											
FAT1	2195	broad.mit.edu	37	chr4	187524086	187524086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaaacctgccgctgggaCagacacaggtgtgtttctcc	11	13	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:187524086C>T	uc003izf.2	-	20	11641	c.11453G>A	c.(11452-11454)TGT>TAT	p.C3818Y		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3818	Extracellular (Potential).|EGF-like 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GCCGCTGGGACAGACACAGGT	0.488										HNSCC(5;0.00058)			T	187524086	C	T	187524086	3	4	55	1	0	0	0	0	1	0	0	0	5689	478	17	4	2345	4	FAT1	4	187524086	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	13933	187524086	3630190	491	41839											
FAT1	2195	broad.mit.edu	37	chr4	187557823	187557823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgatgaaaaatttgccatgCtcattcccgtcttcgatgct	7	11	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:187557823C>T	uc003izf.2	-	5	4076	c.3888G>A	c.(3886-3888)GAG>GAA	p.E1296E		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1296	Extracellular (Potential).|Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ATTTGCCATGCTCATTCCCGT	0.463										HNSCC(5;0.00058)			T	187557823	C	T	187557823	2	4	55	1	0	0	0	0	0	0	0	1	5689	796	28	2		2	FAT1	4	187557823	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	33737	187557823	3596453	492	41840											
SLC9A3	6550	broad.mit.edu	37	chr5	480034	480034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgagacttctgggccgaccGtctcatgaggaccctgctga	12	13	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:480034G>A	uc003jbe.2	-	10	1676	c.1564C>T	c.(1564-1566)CGG>TGG	p.R522W	SLC9A3_uc011clx.1_Missense_Mutation_p.R513W|uc011cly.1_RNA	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	522	Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGGGCCGACCGTCTCATGAGG	0.602													A	480034	G	A	480034	3	1	55	1	0	0	0	0	1	0	0	0	14713	1144	40	1	972	1	SLC9A3	5	480034	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08		480034	180435226	493	41841											
SLC12A7	10723	broad.mit.edu	37	chr5	1064240	1064240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcagcatgagcatgccGccgtcgtgcacgatccacca	12	15	0	1	rs137938985	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:1064240G>A	uc003jbu.2	-	19	2631	c.2565C>T	c.(2563-2565)GGC>GGT	p.G855G		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	855	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TGAGCATGCCGCCGTCGTGCA	0.687													A	1064240	G	A	1064240	2	1	55	1	0	0	0	0	0	0	0	1	14388	1074	38	1		1	SLC12A7	5	1064240	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	584206	1064240	179851020	494	41842											
CLPTM1L	81037	broad.mit.edu	37	chr5	1344507	1344507	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaaagtcttccacattcaaGaccaggtcgatgttgttctc	7	11	4	1	rs138482151	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:1344507G>A	uc003jch.2	-	2	268	c.222C>T	c.(220-222)GTC>GTT	p.V74V	CLPTM1L_uc003jcg.2_5'Flank	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	CLPTM1-like	74	Extracellular (Potential).				apoptosis	integral to membrane				breast(1)|central_nervous_system(1)	2	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CCACATTCAAGACCAGGTCGA	0.517													A	1344507	G	A	1344507	2	1	55	1	0	0	0	0	0	0	0	1	3555	929	33	4		4	CLPTM1L	5	1344507	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	280267	1344507	179570753	495	41843											
IRX2	153572	broad.mit.edu	37	chr5	2749765	2749765	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcgttgagccaggccttgAgagtggccgtggcgtcccgc	16	13	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:2749765A>G	uc003jda.2	-	2	628	c.386T>C	c.(385-387)CTC>CCC	p.L129P	C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Missense_Mutation_p.L129P	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	129	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		CCAGGCCTTGAGAGTGGCCGT	0.647													G	2749765	A	G	2749765	3	3	55	1	0	0	0	0	1	0	0	0	7844	304	11	3	1041	3	IRX2	5	2749765	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1405258	2749765	178165495	496	41844											
ADAMTS16	170690	broad.mit.edu	37	chr5	5239326	5239326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtctgtggggtgtgtaaCgggaataactcagcctgcac	14	9	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:5239326C>T	uc003jdl.2	+	15	2355	c.2217C>T	c.(2215-2217)AAC>AAT	p.N739N	ADAMTS16_uc003jdk.1_Silent_p.N739N|ADAMTS16_uc010itk.1_RNA	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	739	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						GGGTGTGTAACGGGAATAACT	0.512													T	5239326	C	T	5239326	2	4	55	1	0	0	0	0	0	0	0	1	261	535	19	1		1	ADAMTS16	5	5239326	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2489561	5239326	175675934	497	41845											
KIAA0947	23379	broad.mit.edu	37	chr5	5466527	5466527	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggaccacaattacattcaCgccctctgcagggtgtatgt	9	11	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:5466527C>T	uc003jdm.3	+	14	6195	c.5973C>T	c.(5971-5973)CAC>CAT	p.H1991H		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1991										ovary(1)|central_nervous_system(1)	2						ATTACATTCACGCCCTCTGCA	0.398													T	5466527	C	T	5466527	2	4	55	1	0	0	0	0	0	0	0	1	8202	535	19	1		1	KIAA0947	5	5466527	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	227201	5466527	175448733	498	41846											
PAPD7	11044	broad.mit.edu	37	chr5	6751166	6751166	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaggattcagacacaccGccctgcacaacgcccagtgt	8	15	2	1	rs138987439	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:6751166G>A	uc003jdx.1	+	11	1254	c.1125G>A	c.(1123-1125)CCG>CCA	p.P375P	PAPD7_uc011cmn.1_Silent_p.P366P|PAPD7_uc010itl.1_Silent_p.P195P	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	375					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			ovary(1)	1						CAGACACACCGCCCTGCACAA	0.522													A	6751166	G	A	6751166	2	1	55	1	0	0	0	0	0	0	0	1	11426	1074	38	1		1	PAPD7	5	6751166	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1284639	6751166	174164094	499	41847											
ADCY2	108	broad.mit.edu	37	chr5	7396481	7396481	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcggcgggcggcggagaCgggctgccgcggtcccggga	23	12	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:7396481C>T	uc003jdz.1	+	1	139	c.72C>T	c.(70-72)GAC>GAT	p.D24D		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	24	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						GCGGCGGAGACGGGCTGCCGC	0.652													T	7396481	C	T	7396481	2	4	55	1	0	0	0	0	0	0	0	1	294	535	19	1		1	ADCY2	5	7396481	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	645315	7396481	173518779	500	41848											
DNAH5	1767	broad.mit.edu	37	chr5	13759008	13759008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaccacgtcaagttccgCctgcttgtcatccaactcgg	8	16	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:13759008C>T	uc003jfd.2	-	61	10408	c.10366G>A	c.(10366-10368)GCG>ACG	p.A3456T	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3456	Stalk (By similarity).|Potential.				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)					TCAAGTTCCGCCTGCTTGTCA	0.547									Kartagener_syndrome				T	13759008	C	T	13759008	3	4	55	1	0	0	0	0	1	0	0	0	4604	739	26	2	3584	2	DNAH5	5	13759008	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	6362527	13759008	167156252	501	41849											
TRIO	7204	broad.mit.edu	37	chr5	14461390	14461390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggactccgacgacagtgcGgccaccccgcaggacgagac	13	15	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:14461390G>A	uc003jff.2	+	35	5472	c.5466G>A	c.(5464-5466)GCG>GCA	p.A1822A	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Silent_p.A1471A|TRIO_uc003jfi.1_Silent_p.A125A	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1822					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					ACGACAGTGCGGCCACCCCGC	0.687													A	14461390	G	A	14461390	2	1	55	1	0	0	0	0	0	0	0	1	16549	1103	39	1		1	TRIO	5	14461390	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	702382	14461390	166453870	502	41850											
TRIO	7204	broad.mit.edu	37	chr5	14498630	14498630	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccatctgtgccgcagtgAcctgggagaggccacgctga	13	13	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:14498630A>G	uc003jff.2	+	53	8219	c.8213A>G	c.(8212-8214)GAC>GGC	p.D2738G	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2738	Ig-like C2-type.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					TGCCGCAGTGACCTGGGAGAG	0.587													G	14498630	A	G	14498630	3	3	55	1	0	0	0	0	1	0	0	0	16549	275	10	3	8423	3	TRIO	5	14498630	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	37240	14498630	166416630	503	41851											
TRIO	7204	broad.mit.edu	37	chr5	14508455	14508455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttccttcattgagcggcGcaaacaccagaatgatgttc	9	11	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:14508455G>A	uc003jff.2	+	57	9224	c.9218G>A	c.(9217-9219)CGC>CAC	p.R3073H	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	3073					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					ATTGAGCGGCGCAAACACCAG	0.547													A	14508455	G	A	14508455	3	1	55	1	0	0	0	0	1	0	0	0	16549	1087	38	1	9444	1	TRIO	5	14508455	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	9825	14508455	166406805	504	41852											
PDZD2	23037	broad.mit.edu	37	chr5	32072313	32072313	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagtactttgcccacgAtgtccctggccccttgtcag	8	17	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:32072313A>G	uc003jhl.2	+	17	3003	c.2615A>G	c.(2614-2616)GAT>GGT	p.D872G	PDZD2_uc003jhm.2_Missense_Mutation_p.D872G|PDZD2_uc011cnx.1_Missense_Mutation_p.D698G	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	872					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						TTTGCCCACGATGTCCCTGGC	0.537													G	32072313	A	G	32072313	3	3	55	1	0	0	0	0	1	0	0	0	11701	333	12	3	2677	3	PDZD2	5	32072313	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	17563858	32072313	148842947	505	41853											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576770	33576770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaccacttgttgttgtagCtacaaggcctccctccgagg	10	12	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:33576770C>T	uc003jia.1	-	19	3524	c.3361G>A	c.(3361-3363)GCT>ACT	p.A1121T	ADAMTS12_uc010iuq.1_Missense_Mutation_p.A1036T	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1121	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GTTGTTGTAGCTACAAGGCCT	0.488										HNSCC(64;0.19)			T	33576770	C	T	33576770	3	4	55	1	0	0	0	0	1	0	0	0	257	797	28	2	1447	2	ADAMTS12	5	33576770	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1504457	33576770	147338490	506	41854											
RICTOR	253260	broad.mit.edu	37	chr5	38949500	38949500	+	Frame_Shift_Del	DEL	C	C	-													taggtcttaagctcctgattCccccgacatgcttcttttta							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:38949499_38949499TC>T	uc003jlo.2	-	31	4189	c.4167_4167GA>A	c.(4165-4167)ggafs	p.G1389fs	RICTOR_uc003jlp.2_Intron|RICTOR_uc010ivf.2_Intron	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1378					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AGCTCCTGATTCCCCCGACAT	0.328													-	38949500	C	-	38949500	7	5	55	1	0	1	0	1	0	0	0	0	13358	870	30	0		0	RICTOR	5	38949500	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	5372730	38949500	141965760	507	41855											
RICTOR	253260	broad.mit.edu	37	chr5	38968099	38968099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacaacaggtagaggaagacGaaatatatcataaagcactt	8	7	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:38968099G>A	uc003jlp.2	-	12	1030	c.1006C>T	c.(1006-1008)CGT>TGT	p.R336C	RICTOR_uc003jlo.2_Missense_Mutation_p.R336C|RICTOR_uc010ivf.2_Missense_Mutation_p.R51C	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	336					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					AGAGGAAGACGAAATATATCA	0.303													A	38968099	G	A	38968099	3	1	55	1	0	0	0	0	1	0	0	0	13358	1058	37	1	4228	1	RICTOR	5	38968099	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	18599	38968099	141947161	508	41856											
HEATR7B2	133558	broad.mit.edu	37	chr5	41061745	41061745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaagatcttgtcagacagtCggttggcatccagtctgggg	14	8	3	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:41061745C>T	uc003jmj.3	-	6	1032	c.542G>A	c.(541-543)CGA>CAA	p.R181Q		NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	181							binding			ovary(6)|central_nervous_system(2)	8						GTCAGACAGTCGGTTGGCATC	0.483													T	41061745	C	T	41061745	3	4	55	1	0	0	0	0	1	0	0	0	7035	884	31	1	4363	1	HEATR7B2	5	41061745	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2093646	41061745	139853515	509	41857											
OXCT1	5019	broad.mit.edu	37	chr5	41794812	41794812	+	Frame_Shift_Del	DEL	A	A	-													caaatgattcatcgctggagAaaaaagaggctcctggaaga							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:41794812delA	uc003jmn.2	-	12	1470	c.1139delT	c.(1138-1140)TTCfs	p.F380fs	OXCT1_uc011cpo.1_5'Flank|OXCT1_uc011cpp.1_5'Flank	NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	380					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)	ATCGCTGGAGAAAAAAGAGGC	0.403													-	41794812	A	-	41794812	7	5	55	1	0	1	0	1	0	0	0	0	11329	246	9	0	447	0	OXCT1	5	41794812	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	733067	41794812	139120448	510	41858											
FST	10468	broad.mit.edu	37	chr5	52778724	52778724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacagctgggaactgctggCtccgtcaagcgaagaacggc	13	12	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:52778724C>T	uc003jpd.2	+	2	127	c.100C>T	c.(100-102)CTC>TTC	p.L34F	FST_uc003jpc.2_Missense_Mutation_p.L34F	NM_013409	NP_037541	P19883	FST_HUMAN	follistatin isoform FST344 precursor	34	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity				0		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GAACTGCTGGCTCCGTCAAGC	0.642											OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	52778724	C	T	52778724	3	4	55	1	0	0	0	0	1	0	0	0	6076	797	28	2	106	2	FST	5	52778724	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	10983912	52778724	128136536	511	41859											
CDC20B	166979	broad.mit.edu	37	chr5	54415630	54415630	+	Splice_Site	DEL	A	A	-													tactcacccatttgcttaccAaaaaacccacctgacctgga							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:54415629_54415629CA>C	uc003jpo.2	-	11	1636	c.1459_splice	c.e11+1	p.G487_splice	CDC20B_uc003jpn.2_Intron|CDC20B_uc010ivu.2_Splice_Site_p.G445_splice	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	487										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ATTTGCTTACCAAAAAACCCA	0.458													-	54415630	A	-	54415630	8	5	55	1	0	1	0	1	0	0	1	0	3060	144	5	0	109	0	CDC20B	5	54415630	Splice_Site	DEL	A	TCGA-BR-7851-01A-11D-2201-08	1636906	54415630	126499630	512	41860											
GPBP1	65056	broad.mit.edu	37	chr5	56531795	56531795	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccaactttcttccagccGtctttaaatcctgagtatga	5	11	2	2	rs147309086		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:56531795G>A	uc003jrh.3	+	6	1688	c.414G>A	c.(412-414)CCG>CCA	p.P138P	GPBP1_uc010iwg.2_Silent_p.P138P|GPBP1_uc003jri.3_5'UTR|GPBP1_uc003jrj.3_Silent_p.P145P|GPBP1_uc003jrk.3_Silent_p.P145P|GPBP1_uc003jrl.3_RNA	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1 isoform 1	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			large_intestine(1)|central_nervous_system(1)	2		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		TCTTCCAGCCGTCTTTAAATC	0.318													A	56531795	G	A	56531795	2	1	55	1	0	0	0	0	0	0	0	1	6595	1132	40	1		1	GPBP1	5	56531795	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2116165	56531795	124383465	513	41861											
TRIM23	373	broad.mit.edu	37	chr5	64909976	64909976	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccatactgaccaataggCccattctgcagtcgttccaa	7	14	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:64909976C>T	uc003jty.2	-	3	401	c.315G>A	c.(313-315)GGG>GGA	p.G105G	TRIM23_uc003jtw.2_Silent_p.G105G|TRIM23_uc003jtx.2_Silent_p.G105G	NM_001656	NP_001647	P36406	TRI23_HUMAN	ADP-ribosylation factor domain protein 1 isoform	105					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		GACCAATAGGCCCATTCTGCA	0.353													T	64909976	C	T	64909976	2	4	55	1	0	0	0	0	0	0	0	1	16494	726	26	2		2	TRIM23	5	64909976	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	8378181	64909976	116005284	514	41862											
MARVELD2	153562	broad.mit.edu	37	chr5	68715357	68715357	+	Frame_Shift_Del	DEL	C	C	-													gcgctgatcccttgccaccaCcccctctcccattacagcca							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:68715356_68715356AC>A	uc003jwq.3	+	1	218	c.144_144AC>A	c.(142-144)ccafs	p.P48fs	MARVELD2_uc010ixf.3_Frame_Shift_Del_p.P48fs|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	48	Poly-Pro.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CCTTGCCACCACCCCCTCTCC	0.542													-	68715357	C	-	68715357	7	5	55	1	0	1	0	1	0	0	0	0	9318	507	18	0	147	0	MARVELD2	5	68715357	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	3805381	68715357	112199903	515	41863											
MAP1B	4131	broad.mit.edu	37	chr5	71494147	71494147	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggccaagaatctcctgaGcaatcccttgctatggactt	8	11	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:71494147G>A	uc003kbw.3	+	5	5206	c.4965G>A	c.(4963-4965)GAG>GAA	p.E1655E	MAP1B_uc010iyw.1_Silent_p.E1672E|MAP1B_uc010iyx.1_Silent_p.E1529E|MAP1B_uc010iyy.1_Silent_p.E1529E	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1655						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AATCTCCTGAGCAATCCCTTG	0.483													A	71494147	G	A	71494147	2	1	55	1	0	0	0	0	0	0	0	1	9228	962	34	2		2	MAP1B	5	71494147	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2778790	71494147	109421113	516	41864											
ZNF366	167465	broad.mit.edu	37	chr5	71739823	71739823	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggatgcatcctccttctcCtccttgcaggcttcctccag	7	16	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:71739823C>A	uc003kce.1	-	5	2181	c.1995G>T	c.(1993-1995)GAG>GAT	p.E665D		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	665					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CCTCCTTCTCCTCCTTGCAGG	0.647													A	71739823	C	A	71739823	3	1	55	1	0	0	0	0	1	0	0	0	17867	680	24	5	243	5	ZNF366	5	71739823	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	245676	71739823	109175437	517	41865											
ZNF366	167465	broad.mit.edu	37	chr5	71756222	71756222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtcgaggccgcactccaCacagatgttctcgcgcccac	10	16	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:71756222C>T	uc003kce.1	-	2	1288	c.1102G>A	c.(1102-1104)GTG>ATG	p.V368M		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	368	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CCGCACTCCACACAGATGTTC	0.657													T	71756222	C	T	71756222	3	4	55	1	0	0	0	0	1	0	0	0	17867	478	17	4	1148	4	ZNF366	5	71756222	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	16399	71756222	109159038	518	41866											
IQGAP2	10788	broad.mit.edu	37	chr5	75993813	75993813	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttacttgttgttttaggAtattcgaaatcaaagaatct	6	7	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:75993813A>G	uc003kek.2	+	33	4430	c.4208A>G	c.(4207-4209)GAT>GGT	p.D1403G	IQGAP2_uc011csv.1_Missense_Mutation_p.D899G|IQGAP2_uc003kel.2_Missense_Mutation_p.D899G|IQGAP2_uc010izw.1_Missense_Mutation_p.D104G	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1403					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)		TTGTTTTAGGATATTCGAAAT	0.363													G	75993813	A	G	75993813	3	3	55	1	0	0	0	0	1	0	0	0	7815	347	12	3	4338	3	IQGAP2	5	75993813	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	4237591	75993813	104921447	519	41867											
F2R	2149	broad.mit.edu	37	chr5	76029169	76029169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccccctaatttactattaCgcttcctctgagtgccagag	7	13	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:76029169C>T	uc003ken.3	+	2	1384	c.1119C>T	c.(1117-1119)TAC>TAT	p.Y373Y		NM_001992	NP_001983	P25116	PAR1_HUMAN	coagulation factor II receptor precursor	373	Helical; Name=7; (Potential).				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			ovary(3)	3		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	TTTACTATTACGCTTCCTCTG	0.488													T	76029169	C	T	76029169	2	4	55	1	0	0	0	0	0	0	0	1	5343	547	19	1		1	F2R	5	76029169	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	35356	76029169	104886091	520	41868											
PAPD4	167153	broad.mit.edu	37	chr5	78919302	78919302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaatcacactgcctgaggCcaaagataaggtaataataa	8	7	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:78919302C>T	uc010jae.1	+	5	873	c.455C>T	c.(454-456)GCC>GTC	p.A152V	PAPD4_uc003kgb.2_Missense_Mutation_p.A152V|PAPD4_uc010jaf.1_Missense_Mutation_p.A152V|PAPD4_uc003kga.2_Missense_Mutation_p.A152V|PAPD4_uc003kfz.2_Missense_Mutation_p.A152V	NM_001114393	NP_001107865	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	152					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			ovary(1)	1		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		CTGCCTGAGGCCAAAGATAAG	0.299													T	78919302	C	T	78919302	3	4	55	1	0	0	0	0	1	0	0	0	11424	739	26	2	465	2	PAPD4	5	78919302	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2890133	78919302	101995958	521	41869											
PAPD4	167153	broad.mit.edu	37	chr5	78938657	78938658	+	Frame_Shift_Ins	INS	-	-	T													tatttttaacttttcagtgtINSttttttcaggtaaatcagaa							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:78938656_78938657G>GT	uc010jae.1	+	7	1092_1093	c.674_675G>GT	c.(673-675)tgtfs	p.C225fs	PAPD4_uc003kgb.2_Frame_Shift_Ins_p.C225fs|PAPD4_uc010jaf.1_Frame_Shift_Ins_p.C225fs|PAPD4_uc003kga.2_Intron|PAPD4_uc003kfz.2_Frame_Shift_Ins_p.C225fs	NM_001114393	NP_776158	Q6PIY7	GLD2_HUMAN	Homo sapiens PAP associated domain containing 4 (PAPD4), transcript variant 2, mRNA.	225					RNA polyadenylation|histone mRNA catabolic process|mRNA processing	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		ACTTTTCAGTGTTTTTTTCAGG	0.302													T	78938658	-	T	78938657	7	5	55	1	0	1	1	0	0	0	0	0	11424	1731	60	0	697	0	PAPD4	5	78938657	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	19355	78938657	101976603	522	41870											
CMYA5	202333	broad.mit.edu	37	chr5	79035006	79035006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgagtgaggcagaacaaaGtacacctgctgaacaaaaag	11	8	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:79035006G>A	uc003kgc.2	+	2	10490	c.10418G>A	c.(10417-10419)AGT>AAT	p.S3473N		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3473						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GCAGAACAAAGTACACCTGCT	0.413													A	79035006	G	A	79035006	3	1	55	1	0	0	0	0	1	0	0	0	3590	1029	36	4	10424	4	CMYA5	5	79035006	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	96349	79035006	101880254	523	41871											
VCAN	1462	broad.mit.edu	37	chr5	82815967	82815967	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttaattatgcctgataaTaatggatcatccatggatga	7	7	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:82815967T>C	uc003kii.3	+	7	2198	c.1842T>C	c.(1840-1842)AAT>AAC	p.N614N	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.N614N|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	614	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGCCTGATAATAATGGATCAT	0.423													C	82815967	T	C	82815967	2	2	55	1	0	0	0	0	0	0	0	1	17135	1403	49	3		3	VCAN	5	82815967	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	3780961	82815967	98099293	524	41872											
CHD1	1105	broad.mit.edu	37	chr5	98221294	98221294	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacatacctctgatccctcAgcattaaaatgatctagagc	5	11	3	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:98221294A>G	uc003knf.2	-	17	2704	c.2556T>C	c.(2554-2556)GCT>GCC	p.A852A		NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	852	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CTGATCCCTCAGCATTAAAAT	0.259													G	98221294	A	G	98221294	2	3	55	1	0	0	0	0	0	0	0	1	3323	175	7	3		3	CHD1	5	98221294	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	15405327	98221294	82693966	525	41873											
SRP19	6728	broad.mit.edu	37	chr5	112203173	112203173	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacacaaaaaacaggaggtgCtgaccaaagtcttcaacaag	9	9	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:112203173C>G	uc003kqc.2	+	5	455	c.374C>G	c.(373-375)GCT>GGT	p.A125G	SRP19_uc003kqb.1_3'UTR|SRP19_uc011cvu.1_Intron|SRP19_uc011cvv.1_Intron	NM_003135	NP_003126	P09132	SRP19_HUMAN	signal recognition particle 19kDa	125					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		ACAGGAGGTGCTGACCAAAGT	0.313													G	112203173	C	G	112203173	3	3	55	1	0	0	0	0	1	0	0	0	15153	797	28	5	392	5	SRP19	5	112203173	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	13981879	112203173	68712087	526	41874											
SRFBP1	153443	broad.mit.edu	37	chr5	121355987	121355987	+	Frame_Shift_Del	DEL	A	A	-													accaatacataattcaaaggAaaaaatagcaaagatggaac							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:121355987delA	uc003kst.1	+	6	629	c.557delA	c.(556-558)GAAfs	p.E186fs		NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm					0		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		AATTCAAAGGAAAAAATAGCA	0.373													-	121355987	A	-	121355987	7	5	55	1	0	1	0	1	0	0	0	0	15143	246	9	0	579	0	SRFBP1	5	121355987	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	9152814	121355987	59559273	527	41875											
CSNK1G3	1456	broad.mit.edu	37	chr5	122926231	122926231	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatatgtttgattatgaataTgactggattggtaaacagtt	9	2	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:122926231T>C	uc003ktm.2	+	9	1688	c.969T>C	c.(967-969)TAT>TAC	p.Y323Y	CSNK1G3_uc003ktl.2_Silent_p.Y323Y|CSNK1G3_uc003ktn.2_Silent_p.Y323Y|CSNK1G3_uc003kto.2_Silent_p.Y323Y|CSNK1G3_uc011cwr.1_Silent_p.Y248Y|CSNK1G3_uc011cws.1_Silent_p.Y211Y|CSNK1G3_uc010jda.2_Silent_p.Y324Y	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3 isoform 1	323					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		ATTATGAATATGACTGGATTG	0.279													C	122926231	T	C	122926231	2	2	55	1	0	0	0	0	0	0	0	1	3956	1471	51	3		3	CSNK1G3	5	122926231	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	1570244	122926231	57989029	528	41876											
ZNF608	57507	broad.mit.edu	37	chr5	124036756	124036756	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaaattcacactggtcccAggttcacagggcccaagaca	8	14	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:124036756A>C	uc003ktq.1	-	2	1236	c.1113T>G	c.(1111-1113)CCT>CCG	p.P371P	ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Silent_p.P371P|ZNF608_uc003ktt.1_Silent_p.P371P	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	371						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CACTGGTCCCAGGTTCACAGG	0.463													C	124036756	A	C	124036756	2	2	55	1	0	0	0	0	0	0	0	1	18031	175	7	5		5	ZNF608	5	124036756	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1110525	124036756	56878504	529	41877											
ADAMTS19	171019	broad.mit.edu	37	chr5	129015539	129015539	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaatttggctggaactacCgttcattatgtaagacgagg	10	7	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:129015539C>T	uc003kvb.1	+	17	2571	c.2571C>T	c.(2569-2571)ACC>ACT	p.T857T	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	857	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTGGAACTACCGTTCATTATG	0.428													T	129015539	C	T	129015539	2	4	55	1	0	0	0	0	0	0	0	1	264	639	23	1		1	ADAMTS19	5	129015539	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	4978783	129015539	51899721	530	41878											
SEPT8	23176	broad.mit.edu	37	chr5	132100012	132100012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtcataggtctggggcCgcaggcgcacgcatgcctca	16	12	3	0	rs76417071	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:132100012C>T	uc003kxr.2	-	3	489	c.251G>A	c.(250-252)CGG>CAG	p.R84Q	SEPT8_uc003kxs.1_Missense_Mutation_p.R84Q|SEPT8_uc003kxu.2_Missense_Mutation_p.R84Q|SEPT8_uc011cxi.1_Missense_Mutation_p.R84Q|SEPT8_uc003kxv.2_Missense_Mutation_p.R84Q|SEPT8_uc003kxt.2_Missense_Mutation_p.R24Q	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	septin 8 isoform a	84					cell cycle	septin complex	GTP binding|protein binding			ovary(2)	2		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTCTGGGGCCGCAGGCGCAC	0.562													T	132100012	C	T	132100012	3	4	55	1	0	0	0	0	1	0	0	0	14070	652	23	1	1287	1	SEPT8	5	132100012	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3084473	132100012	48815248	531	41879											
SEC24A	10802	broad.mit.edu	37	chr5	134010443	134010443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttccttgaattacccaaGtgggccacaagcctttactc	6	14	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:134010443G>A	uc003kzs.2	+	5	1244	c.956G>A	c.(955-957)AGT>AAT	p.S319N	SEC24A_uc011cxu.1_Missense_Mutation_p.S83N	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	319					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATTACCCAAGTGGGCCACAA	0.413													A	134010443	G	A	134010443	3	1	55	1	0	0	0	0	1	0	0	0	13994	1029	36	4	974	4	SEC24A	5	134010443	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1910431	134010443	46904817	532	41880											
CAMLG	819	broad.mit.edu	37	chr5	134077003	134077003	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagaggggacctgacagcGgactcggtccagaggggttc	16	10	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:134077003G>A	uc003kzt.2	+	2	528	c.423G>A	c.(421-423)GCG>GCA	p.A141A	CAMLG_uc003kzu.2_Intron	NM_001745	NP_001736	P49069	CAMLG_HUMAN	calcium modulating ligand	141	Cytoplasmic (Potential).				defense response	endoplasmic reticulum|integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	ACCTGACAGCGGACTCGGTCC	0.522													A	134077003	G	A	134077003	2	1	55	1	0	0	0	0	0	0	0	1	2609	1103	39	1		1	CAMLG	5	134077003	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	66560	134077003	46838257	533	41881											
KLHL3	26249	broad.mit.edu	37	chr5	136974736	136974736	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcatgctggcaatggaCgtccactggtccttcacgcc	10	15	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:136974736C>T	uc010jek.2	-	10	1569	c.1125G>A	c.(1123-1125)ACG>ACA	p.T375T	KLHL3_uc011cyc.1_Silent_p.T144T|KLHL3_uc003lbr.3_Silent_p.T293T|KLHL3_uc011cyd.1_Intron|KLHL3_uc010jel.1_Silent_p.T144T|KLHL3_uc010jem.1_Silent_p.T335T	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	kelch-like 3	375	Kelch 2.					cytoplasm|cytoskeleton	actin binding|structural molecule activity				0		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TGGCAATGGACGTCCACTGGT	0.597													T	136974736	C	T	136974736	2	4	55	1	0	0	0	0	0	0	0	1	8383	523	19	1		1	KLHL3	5	136974736	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2897733	136974736	43940524	534	41882											
CDC25C	995	broad.mit.edu	37	chr5	137627690	137627690	+	Frame_Shift_Del	DEL	T	T	-													ttccttggccagaaaaatacTtttttttaactttatctggt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:137627689_137627689CT>C	uc003lcs.1	-	7	1166	c.966_966AG>G	c.(964-966)aagfs	p.K322fs	CDC25C_uc003lcp.1_Frame_Shift_Del_p.K244fs|CDC25C_uc003lcq.1_Frame_Shift_Del_p.K171fs|CDC25C_uc003lcr.1_Frame_Shift_Del_p.K244fs|CDC25C_uc011cyp.1_Frame_Shift_Del_p.K261fs	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	244	Rhodanese.				DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGAAAAATACTTTTTTTTAA	0.383													-	137627690	T	-	137627690	7	5	55	1	0	1	0	1	0	0	0	0	3064	1609	56	0	718	0	CDC25C	5	137627690	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	652954	137627690	43287570	535	41883											
PSD2	84249	broad.mit.edu	37	chr5	139192922	139192922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccggggagccagatgtgCgggatggcttcagcgccacg	17	12	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:139192922C>T	uc003leu.1	+	3	605	c.400C>T	c.(400-402)CGG>TGG	p.R134W		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	134					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGATGTGCGGGATGGCTT	0.607													T	139192922	C	T	139192922	3	4	55	1	0	0	0	0	1	0	0	0	12647	759	27	1	406	1	PSD2	5	139192922	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1565232	139192922	41722338	536	41884											
NRG2	9542	broad.mit.edu	37	chr5	139251400	139251400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcacttccgggcgtgccCcgaccaggatgacagggtgg	16	12	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:139251400C>T	uc003lex.1	-	4	1243	c.1018G>A	c.(1018-1020)GGG>AGG	p.G340R	NRG2_uc003lev.1_Missense_Mutation_p.G340R|NRG2_uc003lew.1_Missense_Mutation_p.G340R|NRG2_uc003ley.1_Missense_Mutation_p.G340R	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	340	Ser/Thr-rich.|Extracellular (Potential).				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|breast(2)|ovary(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGTGCCCCGACCAGGAT	0.562													T	139251400	C	T	139251400	3	4	55	1	0	0	0	0	1	0	0	0	10648	623	22	4	1653	4	NRG2	5	139251400	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	58478	139251400	41663860	537	41885											
HARS	3035	broad.mit.edu	37	chr5	140054656	140054658	+	In_Frame_Del	DEL	CTT	CTT	-													tttagtctttcctctagcagCttcttctgtgcagatgccac							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140054655_140054657GCTT>G	uc003lgv.3	-	10	1338_1340	c.1256_1258AAGC>C	c.(1255-1260)aagctg>aCtg	p.419_420KL>T	DND1_uc003lgt.3_5'Flank|HARS_uc003lgu.3_In_Frame_Del_p.350_351KL>T|HARS_uc011czm.2_In_Frame_Del_p.379_380KL>T|HARS_uc003lgw.3_In_Frame_Del_p.399_400KL>T|HARS_uc011czn.2_In_Frame_Del_p.359_360KL>T|HARS_uc011czo.2_In_Frame_Del_p.345_346KL>T|HARS_uc011czp.2_In_Frame_Del_p.305_306KL>T|HARS_uc011czq.2_In_Frame_Del_p.309_310KL>T	NM_002109	NP_002100	P12081	SYHC_HUMAN	Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	419					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TCCTCTAGCAGCTTCTTCTGTGC	0.542													-	140054658	CTT	-	140054656	7	5	55	1	0	1	0	1	0	0	0	0	6959	796	28	0	284	0	HARS	5	140054656	In_Frame_Del	DEL	CTT	TCGA-BR-7851-01A-11D-2201-08	803256	140054656	40860604	538	41886											
PCDHA1	56147	broad.mit.edu	37	chr5	140167916	140167916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgccaaaggcgtcttcgCgggcgtcggtgggtgtcgcg	19	11	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140167916C>T	uc003lhb.2	+	1	2041	c.2041C>T	c.(2041-2043)CGG>TGG	p.R681W	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.R681W	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	681	Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGTCTTCGCGGGCGTCGGT	0.657													T	140167916	C	T	140167916	3	4	55	1	0	0	0	0	1	0	0	0	11519	759	27	1	2043	1	PCDHA1	5	140167916	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	113260	140167916	40747344	539	41887											
PCDHA3	56145	broad.mit.edu	37	chr5	140181497	140181497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttagatgtaaacgacaacGccccagcgtttgagaggacg	11	9	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140181497G>A	uc003lhf.2	+	1	715	c.715G>A	c.(715-717)GCC>ACC	p.A239T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A239T	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	239	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACGACAACGCCCCAGCGTT	0.438													A	140181497	G	A	140181497	3	1	55	1	0	0	0	0	1	0	0	0	11525	1087	38	1	717	1	PCDHA3	5	140181497	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	13581	140181497	40733763	540	41888											
PCDHAC2	56134	broad.mit.edu	37	chr5	140188275	140188276	+	Frame_Shift_Del	DEL	GC	GC	-													gtagagcggcgggtaggggaGcgcgcgctgtcgagctacgt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140188274_140188275AGC>A	uc003lhi.2	+	0	1603_1604	c.1502_1503AGC>A	c.(1501-1503)gagfs	p.E501fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Frame_Shift_Del_p.E501fs|PCDHAC2_uc011daa.2_Frame_Shift_Del_p.E501fs	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	515	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGTAGGGGAGCGCGCGCTGT	0.663													-	140188276	GC	-	140188275	7	5	55	1	0	1	0	1	0	0	0	0	11533	962	34	0		0	PCDHAC2	5	140188275	Frame_Shift_Del	DEL	GC	TCGA-BR-7851-01A-11D-2201-08	6778	140188275	40726985	541	41889											
PCDHA4	56144	broad.mit.edu	37	chr5	140188299	140188299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgtcgagctacgtttcGgtgcatgcggagagcggcaa	16	10	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140188299G>A	uc003lhi.2	+	1	1628	c.1527G>A	c.(1525-1527)TCG>TCA	p.S509S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.S509S|PCDHA4_uc011daa.1_Silent_p.S509S	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	509	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACGTTTCGGTGCATGCGG	0.677													A	140188299	G	A	140188299	2	1	55	1	0	0	0	0	0	0	0	1	11526	1103	39	1		1	PCDHA4	5	140188299	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	24	140188299	40726961	542	41890											
PCDHA7	56141	broad.mit.edu	37	chr5	140215847	140215847	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccgttccgcgtggggctgTacactggtgagatcagcacg	14	12	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140215847T>C	uc003lhq.2	+	1	1879	c.1879T>C	c.(1879-1881)TAC>CAC	p.Y627H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.Y627H	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	627	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGGGCTGTACACTGGTGA	0.637													C	140215847	T	C	140215847	3	2	55	1	0	0	0	0	1	0	0	0	11529	1638	57	3	1881	3	PCDHA7	5	140215847	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	27548	140215847	40699413	543	41891											
PCDHA7	56141	broad.mit.edu	37	chr5	140216075	140216075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaacgtgtacctgatcatcGccatctgcgcggtgtccagt	10	13	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140216075G>A	uc003lhq.2	+	1	2107	c.2107G>A	c.(2107-2109)GCC>ACC	p.A703T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A703T	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	703	Helical; (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGATCATCGCCATCTGCGC	0.612													A	140216075	G	A	140216075	3	1	55	1	0	0	0	0	1	0	0	0	11529	1087	38	1	2109	1	PCDHA7	5	140216075	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	228	140216075	40699185	544	41892											
PCDHA11	56138	broad.mit.edu	37	chr5	140248773	140248773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattctgggaggtggggagcGgccagctccactactccgtc	14	12	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140248773G>A	uc003lia.2	+	1	943	c.85G>A	c.(85-87)GGC>AGC	p.G29S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.G29S	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	29					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGGGAGCGGCCAGCTCCA	0.627													A	140248773	G	A	140248773	3	1	55	1	0	0	0	0	1	0	0	0	11521	1116	39	1	87	1	PCDHA11	5	140248773	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	32698	140248773	40666487	545	41893											
PCDHAC2	56134	broad.mit.edu	37	chr5	140346751	140346751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccgtggcggtgagcgccGttgaggtggaaatattggac	16	9	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140346751G>A	uc003lii.2	+	1	640	c.400G>A	c.(400-402)GTT>ATT	p.V134I	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.V134I	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	134	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCGCCGTTGAGGTGGA	0.627													A	140346751	G	A	140346751	3	1	55	1	0	0	0	0	1	0	0	0	11533	1145	40	1	402	1	PCDHAC2	5	140346751	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	97978	140346751	40568509	546	41894											
PCDHB1	29930	broad.mit.edu	37	chr5	140431715	140431715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtggacggcgggtccccGcctaagtctggcacagctca	15	14	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140431715G>A	uc003lik.1	+	1	737	c.660G>A	c.(658-660)CCG>CCA	p.P220P		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	220	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGGTCCCCGCCTAAGTCTG	0.582													A	140431715	G	A	140431715	2	1	55	1	0	0	0	0	0	0	0	1	11534	1074	38	1		1	PCDHB1	5	140431715	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	84964	140431715	40483545	547	41895											
PCDHB2	56133	broad.mit.edu	37	chr5	140476009	140476009	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccccggcgttgagcagCgaggcgctggtgcgcgtgct	18	13	0	1	rs147433427		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140476009C>T	uc003lil.2	+	1	1773	c.1635C>T	c.(1633-1635)AGC>AGT	p.S545S	PCDHB2_uc003lim.1_Silent_p.S206S	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	545	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTGAGCAGCGAGGCGCTGG	0.706													T	140476009	C	T	140476009	2	4	55	1	0	0	0	0	0	0	0	1	11542	767	27	1		1	PCDHB2	5	140476009	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	44294	140476009	40439251	548	41896											
PCDHB3	56132	broad.mit.edu	37	chr5	140482006	140482006	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgaccaaggtggtggcGgtggacggcgactcgggcca	19	10	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140482006G>A	uc003lio.2	+	1	1773	c.1773G>A	c.(1771-1773)GCG>GCA	p.A591A	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	591	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTGGTGGCGGTGGACGGCG	0.711													A	140482006	G	A	140482006	2	1	55	1	0	0	0	0	0	0	0	1	11543	1103	39	1		1	PCDHB3	5	140482006	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5997	140482006	40433254	549	41897											
PCDHB5	26167	broad.mit.edu	37	chr5	140516916	140516916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgctgagcgagcgcgacGcggccaagcacaggctggtg	18	12	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140516916G>A	uc003liq.2	+	1	2117	c.1900G>A	c.(1900-1902)GCG>ACG	p.A634T		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	634	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGCGCGACGCGGCCAAGCA	0.692													A	140516916	G	A	140516916	3	1	55	1	0	0	0	0	1	0	0	0	11545	1087	38	1	1902	1	PCDHB5	5	140516916	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	34910	140516916	40398344	550	41898											
PCDHB9	56127	broad.mit.edu	37	chr5	140567449	140567449	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattaaaattagtggcagtgAtgaaggcatgatatatccag	10	4	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140567449A>G	uc003liw.1	+	1	557	c.557A>G	c.(556-558)GAT>GGT	p.D186G		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	186	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTGGCAGTGATGAAGGCATG	0.458													G	140567449	A	G	140567449	3	3	55	1	0	0	0	0	1	0	0	0	11549	333	12	3	559	3	PCDHB9	5	140567449	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	50533	140567449	40347811	551	41899											
PCDHB9	56127	broad.mit.edu	37	chr5	140568526	140568526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctttgagcagcgaggcGctggtgcgcgtactggtgct	17	11	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140568526G>A	uc003liw.1	+	3	1635	c.1635G>A	c.(1633-1635)GCG>GCA	p.A545A		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	545	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGCGAGGCGCTGGTGCGCG	0.692													A	140568526	G	A	140568526	2	1	55	1	0	0	0	0	0	0	0	1	11549	1087	38	1		1	PCDHB9	5	140568526	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1077	140568526	40346734	552	41900											
PCDHB9	56127	broad.mit.edu	37	chr5	140569216	140569216	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgattaccccccacctcccGccccataggggtgggaaaga	10	17	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140569216G>A	uc003liw.1	+	3	2325	c.2325G>A	c.(2323-2325)CCG>CCA	p.P775P	PCDHB10_uc003lix.2_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	775	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCACCTCCCGCCCCATAGGG	0.483													A	140569216	G	A	140569216	2	1	55	1	0	0	0	0	0	0	0	1	11549	1087	38	1		1	PCDHB9	5	140569216	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	690	140569216	40346044	553	41901											
PCDHB12	56124	broad.mit.edu	37	chr5	140588663	140588663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgagtgagctgtcttcgCggggggctcgggtggtttct	19	7	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140588663C>T	uc003liz.2	+	1	373	c.184C>T	c.(184-186)CGG>TGG	p.R62W	PCDHB12_uc011dak.1_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	62	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGTCTTCGCGGGGGGCTCG	0.507													T	140588663	C	T	140588663	3	4	55	1	0	0	0	0	1	0	0	0	11537	759	27	1	186	1	PCDHB12	5	140588663	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	19447	140588663	40326597	554	41902											
PCDHB12	56124	broad.mit.edu	37	chr5	140589450	140589450	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatcattcaagccacagatgGgggaggactttttggaaaat	11	6	2	1	rs139586852		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140589450G>T	uc003liz.2	+	1	1160	c.971G>T	c.(970-972)GGG>GTG	p.G324V	PCDHB12_uc011dak.1_5'UTR	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	324	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G324E(1)		skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACAGATGGGGGAGGACTT	0.383													T	140589450	G	T	140589450	3	4	55	1	0	0	0	0	1	0	0	0	11537	1232	43	5	973	5	PCDHB12	5	140589450	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	787	140589450	40325810	555	41903											
PCDHB13	56123	broad.mit.edu	37	chr5	140594607	140594607	+	Frame_Shift_Del	DEL	A	A	-													ttgacaggagaaattgaactAaaaaaacaactcgatttcga							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140594607delA	uc003lja.1	+	1	1099	c.912delA	c.(910-912)CTAfs	p.L304fs		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	304	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATTGAACTAAAAAAACAAC	0.388													-	140594607	A	-	140594607	7	5	55	1	0	1	0	1	0	0	0	0	11538	349	13	0	914	0	PCDHB13	5	140594607	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	5157	140594607	40320653	556	41904											
PCDHGA6	56109	broad.mit.edu	37	chr5	140754671	140754671	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taataactatcttggatgtcAatgataatgtaccagaagtg	8	5	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140754671A>G	uc003ljy.1	+	1	1021	c.1021A>G	c.(1021-1023)AAT>GAT	p.N341D	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.N341D	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	341	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGGATGTCAATGATAATGT	0.453													G	140754671	A	G	140754671	3	3	55	1	0	0	0	0	1	0	0	0	11558	130	5	3	1023	3	PCDHGA6	5	140754671	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	160064	140754671	40160589	557	41905											
PCDHGA9	56107	broad.mit.edu	37	chr5	140783640	140783640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttttcaatgctcatgaccGagactccgggaagaatggtc	10	10	3	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140783640G>A	uc003lkh.1	+	1	1121	c.1121G>A	c.(1120-1122)CGA>CAA	p.R374Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.R374Q	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	374	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)			GCTCATGACCGAGACTCCGGG	0.408													A	140783640	G	A	140783640	3	1	55	1	0	0	0	0	1	0	0	0	11561	1058	37	1	1123	1	PCDHGA9	5	140783640	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	28969	140783640	40131620	558	41906											
PCDHGB7	56099	broad.mit.edu	37	chr5	140799286	140799286	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgggctcttcagcctgggGctgcgaacaggcgaggtgcg	17	13	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140799286G>A	uc003lkn.1	+	1	2005	c.1860G>A	c.(1858-1860)GGG>GGA	p.G620G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Silent_p.G620G|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	620	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCCTGGGGCTGCGAACAG	0.662													A	140799286	G	A	140799286	2	1	55	1	0	0	0	0	0	0	0	1	11568	1190	42	2		2	PCDHGB7	5	140799286	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	15646	140799286	40115974	559	41907											
ARAP3	64411	broad.mit.edu	37	chr5	141050145	141050145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactgcagtacaggaagcCgctgtaagtagcacgcacca	13	11	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:141050145C>T	uc003llm.2	-	14	2119	c.2041G>A	c.(2041-2043)GGC>AGC	p.G681S	ARAP3_uc011dbe.1_Missense_Mutation_p.G343S|ARAP3_uc003lln.2_Missense_Mutation_p.G583S	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	681					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7						TACAGGAAGCCGCTGTAAGTA	0.607													T	141050145	C	T	141050145	3	4	55	1	0	0	0	0	1	0	0	0	840	652	23	1	2673	1	ARAP3	5	141050145	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	250859	141050145	39865115	560	41908											
SPINK5	11005	broad.mit.edu	37	chr5	147473960	147473960	+	Frame_Shift_Del	DEL	T	T	-													acaagtgagaaatggaaggcTtttttgtacacgggagagtg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:147473959_147473959CT>C	uc003lox.2	+	8	782	c.709_709CT>C	c.(709-711)cttfs	p.L237fs	SPINK5_uc010jgq.1_Non-coding_Transcript|SPINK5_uc010jgs.1_Frame_Shift_Del_p.L209fs|SPINK5_uc010jgr.2_Frame_Shift_Del_p.L218fs|SPINK5_uc003low.2_Frame_Shift_Del_p.L237fs|SPINK5_uc003loy.2_Frame_Shift_Del_p.L237fs	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	237	Kazal-like 4.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGGAAGGCTTTTTTGTAC	0.368													-	147473960	T	-	147473960	7	5	55	1	0	1	0	1	0	0	0	0	15061	1609	56	0	744	0	SPINK5	5	147473960	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	6423815	147473960	33441300	561	41909											
FBXO38	81545	broad.mit.edu	37	chr5	147774406	147774406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattccagaagaaatgacaGcagatgaaacaaaggactat	8	6	0	5			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:147774406G>A	uc003lpf.1	+	2	187	c.67G>A	c.(67-69)GCA>ACA	p.A23T	FBXO38_uc003lpg.1_Missense_Mutation_p.A23T|FBXO38_uc003lph.2_Missense_Mutation_p.A23T	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	23						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAATGACAGCAGATGAAAC	0.373													A	147774406	G	A	147774406	3	1	55	1	0	0	0	0	1	0	0	0	5746	971	34	2	69	2	FBXO38	5	147774406	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	300446	147774406	33140854	562	41910											
AFAP1L1	134265	broad.mit.edu	37	chr5	148685930	148685930	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggacgcagacagcagctaCcctgcaaccagggtgaacgg	14	12	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:148685930C>T	uc003lqh.2	+	6	629	c.498C>T	c.(496-498)TAC>TAT	p.Y166Y	AFAP1L1_uc003lqg.3_Silent_p.Y166Y|AFAP1L1_uc010jgy.2_Silent_p.Y166Y	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	166							protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCAGCTACCCTGCAACCA	0.567													T	148685930	C	T	148685930	2	4	55	1	0	0	0	0	0	0	0	1	354	518	18	4		4	AFAP1L1	5	148685930	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	911524	148685930	32229330	563	41911											
PPARGC1B	133522	broad.mit.edu	37	chr5	149206386	149206386	+	Frame_Shift_Del	DEL	C	C	-													cgcctgccccctcatctgcaCcccccagccctgccccggag					rs147140005		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:149206385_149206385AC>A	uc003lrc.3	+	2	493	c.402_402AC>A	c.(400-402)gcafs	p.A134fs	PPARGC1B_uc003lrb.2_Frame_Shift_Del_p.A134fs|PPARGC1B_uc003lrd.3_Frame_Shift_Del_p.A134fs|PPARGC1B_uc021yfr.1_Frame_Shift_Del_p.A109fs|PPARGC1B_uc003lre.1_Frame_Shift_Del_p.A113fs|PPARGC1B_uc003lrf.3_Frame_Shift_Del_p.A113fs	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	134					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCTCATCTGCACCCCCCAGCC	0.617													-	149206386	C	-	149206386	7	5	55	1	0	1	0	1	0	0	0	0	12301	507	18	0	420	0	PPARGC1B	5	149206386	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	520456	149206386	31708874	564	41912											
CSF1R	1436	broad.mit.edu	37	chr5	149449811	149449811	+	Frame_Shift_Del	DEL	A	A	-													ggtacccagaggcagcacacAaaagggtgccagagccgttg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:149449810_149449810CA>C	uc003lrl.3	-	7	1449	c.1254_1254TG>G	c.(1252-1254)ttgfs	p.L418fs	CSF1R_uc011dcd.2_Frame_Shift_Del_p.L270fs|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Frame_Shift_Del_p.L418fs	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	418	Ig-like C2-type 5.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.L417L(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AGGCAGCACACAAAAGGGTGC	0.592													-	149449811	A	-	149449811	7	5	55	1	0	1	0	1	0	0	0	0	3932	131	5	0	1721	0	CSF1R	5	149449811	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	243425	149449811	31465449	565	41913											
PDGFRB	5159	broad.mit.edu	37	chr5	149497347	149497347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatggaacccaggcaagcGggcctgggaccgaaggatgg	17	11	0	0	rs140261309	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:149497347G>A	uc003lro.2	-	22	3440	c.2971C>T	c.(2971-2973)CGC>TGC	p.R991C	PDGFRB_uc010jhd.2_Missense_Mutation_p.R830C	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	991	Cytoplasmic (Potential).				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCAGGCAAGCGGGCCTGGGAC	0.562			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								A	149497347	G	A	149497347	3	1	55	1	0	0	0	0	1	0	0	0	11662	1116	39	1	357	1	PDGFRB	5	149497347	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	47536	149497347	31417913	566	41914											
SYNPO	11346	broad.mit.edu	37	chr5	150029294	150029294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagctgagctctacgcccGccgccagtcacggatggaga	15	13	2	2	rs138664774		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:150029294G>A	uc003lsn.2	+	3	2563	c.2189G>A	c.(2188-2190)CGC>CAC	p.R730H	SYNPO_uc003lso.3_Missense_Mutation_p.R486H|SYNPO_uc003lsp.2_Missense_Mutation_p.R486H	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	730					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCTACGCCCGCCGCCAGTCA	0.627													A	150029294	G	A	150029294	3	1	55	1	0	0	0	0	1	0	0	0	15453	1087	38	1	2195	1	SYNPO	5	150029294	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	531947	150029294	30885966	567	41915											
RBM22	55696	broad.mit.edu	37	chr5	150072459	150072459	+	Splice_Site	DEL	G	G	-													aaggaagatggaagttacctGggggtgggggtggagcaatg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:150072458_150072458TG>T	uc003lst.3	-	10	1254	c.1132_splice	c.e10+1	p.G378_splice		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	Homo sapiens RNA binding motif protein 22 (RBM22), mRNA.	378	Pro-rich.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	RNA binding|calcium-dependent protein binding|nucleotide binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAAGTTACCTGGGGGTGGGG	0.512													-	150072459	G	-	150072459	8	5	55	1	0	1	0	1	0	0	1	0	13122	1348	47	0	140	0	RBM22	5	150072459	Splice_Site	DEL	G	TCGA-BR-7851-01A-11D-2201-08	43165	150072459	30842801	568	41916											
NMUR2	56923	broad.mit.edu	37	chr5	151784174	151784174	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagaagccccagacgatgccGaggatcctgagggcccggcg	16	13	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:151784174G>A	uc003luv.2	-	1	667	c.501C>T	c.(499-501)CTC>CTT	p.L167L		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	167	Helical; Name=4; (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGACGATGCCGAGGATCCTGA	0.632													A	151784174	G	A	151784174	2	1	55	1	0	0	0	0	0	0	0	1	10507	1045	37	1		1	NMUR2	5	151784174	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1711715	151784174	29131086	569	41917											
LARP1	23367	broad.mit.edu	37	chr5	154092575	154092575	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatacctagctgccctggCagactcccagggaggaaaaa	10	14	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:154092575C>T	uc003lvo.2	+	1	114	c.90C>T	c.(88-90)GGC>GGT	p.G30G		NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	la related protein isoform 1	286							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTGCCCTGGCAGACTCCCAG	0.597													T	154092575	C	T	154092575	2	4	55	1	0	0	0	0	0	0	0	1	8628	697	25	2		2	LARP1	5	154092575	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2308401	154092575	26822685	570	41918											
HMMR	3161	broad.mit.edu	37	chr5	162910330	162910330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaaattaacaagtggcGtctcctctatgaagaactat	8	7	2	4	rs144652802		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:162910330G>A	uc003lzf.2	+	15	1921	c.1739G>A	c.(1738-1740)CGT>CAT	p.R580H	HMMR_uc003lzh.2_Missense_Mutation_p.R581H|HMMR_uc003lzg.2_Missense_Mutation_p.R565H|HMMR_uc011dem.1_Missense_Mutation_p.R494H|uc003lzi.2_Intron	NM_012484	NP_036616	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor isoform b	580						cell surface|cytoplasm	hyaluronic acid binding				0	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		AACAAGTGGCGTCTCCTCTAT	0.303													A	162910330	G	A	162910330	3	1	55	1	0	0	0	0	1	0	0	0	7242	1145	40	1	1800	1	HMMR	5	162910330	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	8817755	162910330	18004930	571	41919											
FBXW11	23291	broad.mit.edu	37	chr5	171299913	171299913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatccactaacaaccaggcGatccctgtactggagacagg	10	12	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:171299913G>A	uc003mbm.1	-	9	1611	c.1240C>T	c.(1240-1242)CGC>TGC	p.R414C	FBXW11_uc011dey.1_Missense_Mutation_p.R382C|FBXW11_uc003mbl.1_Missense_Mutation_p.R401C|FBXW11_uc003mbn.1_Missense_Mutation_p.R380C	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11 isoform	414	WD 5.				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)|breast(1)	2	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACAACCAGGCGATCCCTGTAC	0.478													A	171299913	G	A	171299913	3	1	55	1	0	0	0	0	1	0	0	0	5764	1058	37	1	404	1	FBXW11	5	171299913	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	8389583	171299913	9615347	572	41920											
NKX2-5	1482	broad.mit.edu	37	chr5	172661804	172661804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggggtcgctgtaggcacGtggatagaaggcgggggcgg	22	7	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:172661804G>A	uc003mcm.1	-	1	459	c.283C>T	c.(283-285)CGT>TGT	p.R95C	NKX2-5_uc011dfe.1_Missense_Mutation_p.R95C|NKX2-5_uc010jjt.1_Missense_Mutation_p.R95C	NM_004387	NP_004378	P52952	NKX25_HUMAN	NK2 transcription factor related, locus 5	95	Ala/Pro-rich.				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTGTAGGCACGTGGATAGAAG	0.682													A	172661804	G	A	172661804	3	1	55	1	0	0	0	0	1	0	0	0	10453	1145	40	1	834	1	NKX2-5	5	172661804	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1361891	172661804	8253456	573	41921											
CLTB	1212	broad.mit.edu	37	chr5	175819790	175819790	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacctagcgggacagtggCgtctgcttcagggacatgag	16	10	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:175819790C>T	uc003meh.2	-	7	850	c.675G>A	c.(673-675)ACG>ACA	p.T225T	CLTB_uc003mei.2_Silent_p.T207T|CLTB_uc011dfn.1_RNA	NM_007097	NP_009028	P09497	CLCB_HUMAN	clathrin, light polypeptide isoform b	225					intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity				0	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		GGGACAGTGGCGTCTGCTTCA	0.627													T	175819790	C	T	175819790	2	4	55	1	0	0	0	0	0	0	0	1	3565	755	27	1		1	CLTB	5	175819790	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3157986	175819790	5095470	574	41922											
GPRIN1	114787	broad.mit.edu	37	chr5	176023872	176023872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacactctgcagcagcgcGcggaacaggccgggcggacg	16	15	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:176023872G>A	uc003meo.1	-	2	3139	c.2964C>T	c.(2962-2964)CGC>CGT	p.R988R		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	988	Interaction with GNAO1 (By similarity).					growth cone|plasma membrane				ovary(2)	2	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCAGCGCGCGGAACAGGC	0.597													A	176023872	G	A	176023872	2	1	55	1	0	0	0	0	0	0	0	1	6729	1074	38	1		1	GPRIN1	5	176023872	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	204082	176023872	4891388	575	41923											
SNCB	6620	broad.mit.edu	37	chr5	176056536	176056536	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaccccgccccttacccaccGacgtagaggacgccctcctt	7	20	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:176056536G>A	uc003mep.2	-	3	563	c.120C>T	c.(118-120)GTC>GTT	p.V40V	SNCB_uc003meq.2_Silent_p.V40V|SNCB_uc010jke.1_Silent_p.V40V|hsa-mir-4281|MI0015885_5'Flank|EIF4E1B_uc010jkf.1_5'Flank	NM_001001502	NP_001001502	Q16143	SYUB_HUMAN	beta-synuclein	40	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).|2.						calcium ion binding|phospholipase inhibitor activity			ovary(1)	1	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTACCCACCGACGTAGAGGA	0.701													A	176056536	G	A	176056536	2	1	55	1	0	0	0	0	0	0	0	1	14842	1072	37	1		1	SNCB	5	176056536	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	32664	176056536	4858724	576	41924											
EIF4E1B	253314	broad.mit.edu	37	chr5	176070213	176070213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtctctgagagggaaggCccggacggggggccccatgg	19	11	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:176070213C>T	uc010jkf.1	+	4	730	c.146C>T	c.(145-147)GCC>GTC	p.A49V		NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E	49					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity				0	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGGGAAGGCCCGGACGGGG	0.358													T	176070213	C	T	176070213	3	4	55	1	0	0	0	0	1	0	0	0	5029	739	26	2	152	2	EIF4E1B	5	176070213	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	13677	176070213	4845047	577	41925											
UIMC1	51720	broad.mit.edu	37	chr5	176332464	176332464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcatctctctgctgcagCctgcctcttccatccctggt	7	17	4	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:176332464C>T	uc011dfp.1	-	15	2146	c.1979G>A	c.(1978-1980)GGC>GAC	p.G660D	UIMC1_uc003mfc.1_Missense_Mutation_p.G537D|UIMC1_uc003mfd.1_Missense_Mutation_p.G290D	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	660					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			ovary(3)|skin(1)	4	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGCTGCAGCCTGCCTCTTC	0.358													T	176332464	C	T	176332464	3	4	55	1	0	0	0	0	1	0	0	0	16968	739	26	2	184	2	UIMC1	5	176332464	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	262251	176332464	4582796	578	41926											
NSD1	64324	broad.mit.edu	37	chr5	176694686	176694686	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcaaaaagccacactacaGggagattgtctgggtaaaag	12	7	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:176694686G>T	uc003mfr.3	+	15	5408	c.5270G>T	c.(5269-5271)AGG>ATG	p.R1757M	NSD1_uc003mft.3_Missense_Mutation_p.R1488M|NSD1_uc003mfs.1_Missense_Mutation_p.R1654M|NSD1_uc011dfx.1_Missense_Mutation_p.R1405M	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1757	PWWP 2.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCACACTACAGGGAGATTGTC	0.433			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			T	176694686	G	T	176694686	3	4	55	1	0	0	0	0	1	0	0	0	10669	1000	35	5	5324	5	NSD1	5	176694686	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	362222	176694686	4220574	579	41927											
RUFY1	80230	broad.mit.edu	37	chr5	179012795	179012795	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaatattcttattttctacAgctgcacagttggggatctt	7	7	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:179012795A>G	uc003mka.1	+	8	957	c.957_splice	c.e8-2	p.S319_splice	RUFY1_uc003mkb.1_Splice_Site_p.S211_splice|RUFY1_uc003mkc.1_Splice_Site_p.S211_splice	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	RUN and FYVE domain-containing 1 isoform a						endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			ovary(4)|breast(1)	5	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATTTTCTACAGCTGCACAGT	0.323										HNSCC(44;0.11)			G	179012795	A	G	179012795	5	3	55	1	0	0	0	0	0	0	1	0	13738	202	7	3	985	3	RUFY1	5	179012795	Splice_Site	SNP	A	TCGA-BR-7851-01A-11D-2201-08	2318109	179012795	1902465	580	41928											
SQSTM1	8878	broad.mit.edu	37	chr5	179250039	179250039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtgaaggatgacatcttccGaatctacattaaaggtaagg	10	7	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:179250039G>A	uc003mkw.3	+	2	382	c.287G>A	c.(286-288)CGA>CAA	p.R96Q	SQSTM1_uc011dgr.1_Missense_Mutation_p.R12Q|SQSTM1_uc011dgs.1_Missense_Mutation_p.R12Q|SQSTM1_uc003mkv.3_Missense_Mutation_p.R96Q|SQSTM1_uc003mkx.2_Missense_Mutation_p.R12Q	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1 isoform 1	96	OPR.|Interaction with PRKCZ and dimerization (By similarity).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACATCTTCCGAATCTACATT	0.488									Paget_Disease_of_Bone				A	179250039	G	A	179250039	3	1	55	1	0	0	0	0	1	0	0	0	15129	1058	37	1	293	1	SQSTM1	5	179250039	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	237244	179250039	1665221	581	41929											
FLT4	2324	broad.mit.edu	37	chr5	180056351	180056351	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgtgctggctgacgttgTggatggtcaggatgctggag	19	6	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:180056351T>C	uc003mma.3	-	7	972	c.893A>G	c.(892-894)CAC>CGC	p.H298R	FLT4_uc003mlz.3_Missense_Mutation_p.H298R|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.1_Missense_Mutation_p.H298R|FLT4_uc011dgz.1_Intron	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	298	Ig-like C2-type 3.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCTGACGTTGTGGATGGTCAG	0.632									Congenital_Hereditary_Lymphedema				C	180056351	T	C	180056351	3	2	55	1	0	0	0	0	1	0	0	0	5944	1696	59	3	3302	3	FLT4	5	180056351	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	806312	180056351	858909	582	41930											
BTNL3	10917	broad.mit.edu	37	chr5	180432603	180432603	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcccaacaatgggtatTgggtcctcagactgacaaca	9	11	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:180432603T>C	uc003mmr.2	+	8	1260	c.1132T>C	c.(1132-1134)TGG>CGG	p.W378R	BTNL3_uc010jlp.2_Missense_Mutation_p.W163R	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3 precursor	378	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)			CAATGGGTATTGGGTCCTCAG	0.507													C	180432603	T	C	180432603	3	2	55	1	0	0	0	0	1	0	0	0	1566	1812	63	3	1162	3	BTNL3	5	180432603	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	376252	180432603	482657	583	41931											
TRIM7	81786	broad.mit.edu	37	chr5	180622451	180622451	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggccctttcggcgcacGctctcgcgggccacgccaaa	12	17	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:180622451G>A	uc003mmz.1	-	7	1318	c.1251C>T	c.(1249-1251)AGC>AGT	p.S417S	TRIM7_uc003mmv.1_Silent_p.S235S|TRIM7_uc003mmw.1_Silent_p.S209S|TRIM7_uc003mmx.1_Silent_p.S209S|TRIM7_uc003mmy.1_Silent_p.S209S	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	417	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TTCGGCGCACGCTCTCGCGGG	0.721													A	180622451	G	A	180622451	2	1	55	1	0	0	0	0	0	0	0	1	16540	1078	38	1		1	TRIM7	5	180622451	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	189848	180622451	292809	584	41932											
IRF4	3662	broad.mit.edu	37	chr6	394997	394997	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaggattgttcctgagggAgccaaaaaaggtaggggctc	14	7	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:394997A>G	uc003msz.3	+	3	506	c.393A>G	c.(391-393)GGA>GGG	p.G131G	IRF4_uc010jne.1_Silent_p.G131G|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Silent_p.G131G|IRF4_uc003mtc.1_5'Flank	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	131					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		TTCCTGAGGGAGCCAAAAAAG	0.498			T	IGH@	MM 								G	394997	A	G	394997	2	3	55	1	0	0	0	0	0	0	0	1	7832	291	11	3		3	IRF4	6	394997	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08		394997	170720070	585	41933											
EXOC2	55770	broad.mit.edu	37	chr6	532495	532495	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaggcagtccttccaaTcaaaatatcctgcataaatt	7	10	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:532495T>A	uc003mtd.2	-	23	2488	c.2354A>T	c.(2353-2355)GAT>GTT	p.D785V	EXOC2_uc003mte.2_Missense_Mutation_p.D785V|EXOC2_uc011dho.1_Missense_Mutation_p.D380V	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	785					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GTCCTTCCAATCAAAATATCC	0.353													A	532495	T	A	532495	3	1	55	1	0	0	0	0	1	0	0	0	5302	1435	50	5	444	5	EXOC2	6	532495	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	137498	532495	170582572	586	41934											
BPHL	670	broad.mit.edu	37	chr6	3152763	3152763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacacaacctgcatttgcGttttgcagatgaattcaaca	6	10	1	2	rs151267393	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:3152763G>A	uc003mva.2	+	7	879	c.830G>A	c.(829-831)CGT>CAT	p.R277H	BPHL_uc003muz.2_RNA|BPHL_uc011dht.1_RNA|BPHL_uc003muy.2_Missense_Mutation_p.R260H	NM_004332	NP_004323	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like precursor	277					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity				0	Ovarian(93;0.0386)	all_hematologic(90;0.108)				CTGCATTTGCGTTTTGCAGAT	0.438													A	3152763	G	A	3152763	3	1	55	1	0	0	0	0	1	0	0	0	1489	1145	40	1	856	1	BPHL	6	3152763	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2620268	3152763	167962304	587	41935											
DSP	1832	broad.mit.edu	37	chr6	7584495	7584495	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagctcctgtctgcagaaCgagctgtcactgggtataat	11	9	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:7584495C>T	uc003mxp.1	+	24	7279	c.7000C>T	c.(7000-7002)CGA>TGA	p.R2334*	DSP_uc003mxq.1_Nonsense_Mutation_p.R1735*	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2334	Plectin 9.|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTCTGCAGAACGAGCTGTCAC	0.463													T	7584495	C	T	7584495	4	4	55	1	0	0	0	0	0	1	0	0	4781	528	19	1	7094	1	DSP	6	7584495	Nonsense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	4431732	7584495	163530572	588	41936											
BMP6	654	broad.mit.edu	37	chr6	7727818	7727818	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggacagcgccttcctcaaCgacgcggacatggtcatgag	12	13	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:7727818C>T	uc003mxu.3	+	1	808	c.630C>T	c.(628-630)AAC>AAT	p.N210N		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	210					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					CCTTCCTCAACGACGCGGACA	0.637													T	7727818	C	T	7727818	2	4	55	1	0	0	0	0	0	0	0	1	1464	535	19	1		1	BMP6	6	7727818	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	143323	7727818	163387249	589	41937											
HIVEP1	3096	broad.mit.edu	37	chr6	12122644	12122644	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatttgatgacaaaattggCactttctatgatgatgtctt	7	6	3	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:12122644C>T	uc003nac.2	+	4	2795	c.2616C>T	c.(2614-2616)GGC>GGT	p.G872G	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	872					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACAAAATTGGCACTTTCTATG	0.463													T	12122644	C	T	12122644	2	4	55	1	0	0	0	0	0	0	0	1	7186	697	25	2		2	HIVEP1	6	12122644	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	4394826	12122644	158992423	590	41938											
HIVEP1	3096	broad.mit.edu	37	chr6	12125941	12125941	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatactgattggacagtaagCgccagtaatccaaatccact	7	10	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:12125941C>T	uc003nac.2	+	4	6092	c.5913C>T	c.(5911-5913)AGC>AGT	p.S1971S	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1971					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GGACAGTAAGCGCCAGTAATC	0.413													T	12125941	C	T	12125941	2	4	55	1	0	0	0	0	0	0	0	1	7186	767	27	1		1	HIVEP1	6	12125941	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3297	12125941	158989126	591	41939											
ATXN1	6310	broad.mit.edu	37	chr6	16328426	16328426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatgctgtgccctccaccCggtggttgtcgctgggcagg	15	14	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:16328426C>T	uc003nbt.2	-	8	1087	c.116G>A	c.(115-117)CGG>CAG	p.R39Q	ATXN1_uc010jpi.2_Missense_Mutation_p.R39Q|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	39					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCCCTCCACCCGGTGGTTGTC	0.701													T	16328426	C	T	16328426	3	4	55	1	0	0	0	0	1	0	0	0	1209	652	23	1	2339	1	ATXN1	6	16328426	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	4202485	16328426	154786641	592	41940											
CAP2	10486	broad.mit.edu	37	chr6	17539525	17539525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagcatccacagtatcagCgttttctgtcctctcctctg	7	13	4	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:17539525C>T	uc003ncb.2	+	8	905	c.662C>T	c.(661-663)GCG>GTG	p.A221V	CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Missense_Mutation_p.A195V|CAP2_uc011djb.1_Missense_Mutation_p.A157V|CAP2_uc011djc.1_Missense_Mutation_p.A109V|CAP2_uc011djd.1_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	adenylyl cyclase-associated protein 2	221					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			ovary(1)	1	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			ACAGTATCAGCGTTTTCTGTC	0.557													T	17539525	C	T	17539525	3	4	55	1	0	0	0	0	1	0	0	0	2620	768	27	1	688	1	CAP2	6	17539525	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1211099	17539525	153575542	593	41941											
OR2B2	81697	broad.mit.edu	37	chr6	27880013	27880013	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataggaaaacagaaacatcaCaaagggtggaatctctagcc	9	8	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:27880013C>A	uc011dkw.1	-	1	85	c.85G>T	c.(85-87)GTG>TTG	p.V29L		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGAAACATCACAAAGGGTGGA	0.373													A	27880013	C	A	27880013	3	1	55	1	0	0	0	0	1	0	0	0	10989	478	17	5	992	5	OR2B2	6	27880013	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	10340488	27880013	143235054	594	41942											
HLA-F	3134	broad.mit.edu	37	chr6	29692082	29692082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctgcgctcctggaccgCggcggacaccgtggctcaga	15	15	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:29692082C>T	uc010jrl.2	+	3	591	c.467C>T	c.(466-468)GCG>GTG	p.A156V	HLA-F_uc003nnm.3_Missense_Mutation_p.A156V|HLA-F_uc003nno.3_Missense_Mutation_p.A156V|HLA-F_uc011dlx.1_Missense_Mutation_p.A156V|HLA-F_uc011dly.1_RNA	NM_018950	NP_061823	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	156	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						TCCTGGACCGCGGCGGACACC	0.632													T	29692082	C	T	29692082	3	4	55	1	0	0	0	0	1	0	0	0	7211	768	27	1	477	1	HLA-F	6	29692082	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1812069	29692082	141422985	595	41943											
HLA-F	3134	broad.mit.edu	37	chr6	29694785	29694785	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttgggccgccggaaggtgGgtgacatgtggatcttgttt	16	7	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:29694785G>T	uc003nno.3	+	7	1286	c.1162G>T	c.(1162-1164)GGT>TGT	p.G388C	HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron|LOC285830_uc003nnp.2_RNA|LOC285830_uc011dlz.1_RNA	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	Error:Variant_position_missing_in_P30511_after_alignment					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						CCGGAAGGTGGGTGACATGTG	0.522													T	29694785	G	T	29694785	3	4	55	1	0	0	0	0	1	0	0	0	7211	1232	43	5	1197	5	HLA-F	6	29694785	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2703	29694785	141420282	596	41944											
ABCF1	23	broad.mit.edu	37	chr6	30545935	30545935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaaagagctcatggagcGtcttaagaagctctcagtgc	12	8	3	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:30545935G>A	uc003nql.2	+	4	394	c.299G>A	c.(298-300)CGT>CAT	p.R100H	ABCF1_uc003nqk.2_Missense_Mutation_p.R101H|ABCF1_uc003nqm.2_Missense_Mutation_p.R100H|ABCF1_uc010jsb.2_Missense_Mutation_p.R100H	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F, member 1	100					inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			ovary(2)	2						CTCATGGAGCGTCTTAAGAAG	0.473													A	30545935	G	A	30545935	3	1	55	1	0	0	0	0	1	0	0	0	65	1145	40	1	313	1	ABCF1	6	30545935	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	851150	30545935	140569132	597	41945											
PPP1R10	5514	broad.mit.edu	37	chr6	30572422	30572422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggtgcctggacggtctgCgtccattgcctcagaaggtg	16	11	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:30572422C>T	uc003nqn.1	-	12	1597	c.1045G>A	c.(1045-1047)GCA>ACA	p.A349T	PPP1R10_uc010jsc.1_Missense_Mutation_p.A3T	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	349					protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						GGACGGTCTGCGTCCATTGCC	0.532													T	30572422	C	T	30572422	3	4	55	1	0	0	0	0	1	0	0	0	12352	768	27	1	1813	1	PPP1R10	6	30572422	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	26487	30572422	140542645	598	41946											
VARS2	57176	broad.mit.edu	37	chr6	30892199	30892199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaggtcctgttctcctgCgctgacctcggcctccgcct	9	19	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:30892199C>T	uc003nsc.1	+	25	3167	c.2535C>T	c.(2533-2535)TGC>TGT	p.C845C	VARS2_uc011dmx.1_Silent_p.C845C|VARS2_uc011dmy.1_Silent_p.C705C|VARS2_uc011dmz.1_Silent_p.C875C|VARS2_uc011dna.1_Silent_p.C843C|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Silent_p.C283C|VARS2_uc010jsg.1_Silent_p.C217C|VARS2_uc010jsh.1_5'UTR	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	845					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						TGTTCTCCTGCGCTGACCTCG	0.697													T	30892199	C	T	30892199	2	4	55	1	0	0	0	0	0	0	0	1	17121	776	27	1		1	VARS2	6	30892199	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	319777	30892199	140222868	599	41947											
BAT2	7916	broad.mit.edu	37	chr6	31603993	31603993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttattttcagatcacagCccctatacctaccccccggc	4	16	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:31603993C>T	uc003nvb.3	+	26	5881	c.5632C>T	c.(5632-5634)CCC>TCC	p.P1878S	BAT2_uc003nvc.3_Missense_Mutation_p.P1878S	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1878						cytoplasm|nucleus	protein binding				0						CAGATCACAGCCCCTATACCT	0.512													T	31603993	C	T	31603993	3	4	55	1	0	0	0	0	1	0	0	0	1319	739	26	2	5730	2	BAT2	6	31603993	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	711794	31603993	139511074	600	41948											
ATF6B	1388	broad.mit.edu	37	chr6	32087712	32087712	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctggactcgaatagcaccCtggatgaggacaactgggga	15	9	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:32087712C>A	uc003nzn.2	-	9	888	c.855G>T	c.(853-855)CAG>CAT	p.Q285H	TNXB_uc010jts.1_5'Flank|ATF6B_uc003nzm.1_5'Flank|ATF6B_uc003nzo.2_Missense_Mutation_p.Q282H|ATF6B_uc003nzp.1_Translation_Start_Site	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta isoform	285	Cytoplasmic (Potential).				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GAATAGCACCCTGGATGAGGA	0.622													A	32087712	C	A	32087712	3	1	55	1	0	0	0	0	1	0	0	0	1085	680	24	5	1296	5	ATF6B	6	32087712	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	483719	32087712	139027355	601	41949											
AGPAT1	10554	broad.mit.edu	37	chr6	32137118	32137118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcagtggagatttcccGgaaaacagtgagcatggagt	13	8	1	2	rs139093368		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:32137118G>A	uc003oae.2	-	7	1105	c.787C>T	c.(787-789)CGG>TGG	p.R263W	PPT2_uc003nzy.1_RNA|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Missense_Mutation_p.R227W|AGPAT1_uc003oaf.2_Missense_Mutation_p.R263W|AGPAT1_uc003oag.2_Missense_Mutation_p.R153W|AGPAT1_uc003oah.2_Missense_Mutation_p.R263W|AGPAT1_uc003oai.1_Missense_Mutation_p.R263W|AGPAT1_uc011dpl.1_Missense_Mutation_p.R151W	NM_006411	NP_006402	Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	263					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)	1						GAGATTTCCCGGAAAACAGTG	0.627													A	32137118	G	A	32137118	3	1	55	1	0	0	0	0	1	0	0	0	386	1115	39	1	68	1	AGPAT1	6	32137118	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	49406	32137118	138977949	602	41950											
GPSM3	63940	broad.mit.edu	37	chr6	32159230	32159230	+	Frame_Shift_Del	DEL	C	C	-													agcaactccaggagctcttgCccccctggagggaggggagg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:32159229_32159229GC>G	uc003oay.4	-	3	799	c.397_397GC>C	c.(397-399)caafs	p.Q133fs	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.3_5'Flank|GPSM3_uc003oaz.3_Frame_Shift_Del_p.Q133fs	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	Homo sapiens G-protein signaling modulator 3 (GPSM3), mRNA.	133	GoLoco 3.				signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						AGGAGCTCTTGCCCCCCTGGA	0.642													-	32159230	C	-	32159230	7	5	55	1	0	1	0	1	0	0	0	0	6736	726	26	0	90	0	GPSM3	6	32159230	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	22112	32159230	138955837	603	41951											
PSMB9	5698	broad.mit.edu	37	chr6	32825904	32825904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggctgggaccaacgtgaagGaggtcaggtgagtttctccc	15	9	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:32825904G>A	uc003sga.2	+	5	422	c.347G>A	c.(346-348)GGA>GAA	p.G116E	PSMB9_uc011dqj.1_Missense_Mutation_p.G84E	NM_148954	NP_683756	P28065	PSB9_HUMAN	proteasome beta 9 subunit isoform 2 proprotein	128					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity				0						CAACGTGAAGGAGGTCAGGTG	0.488													A	32825904	G	A	32825904	3	1	55	1	0	0	0	0	1	0	0	0	12684	1174	41	4	397	4	PSMB9	6	32825904	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	666674	32825904	138289163	604	41952											
COL11A2	1302	broad.mit.edu	37	chr6	33133582	33133582	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtggctggatcacctcGcctgggggaccctgggtgca	17	12	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:33133582G>A	uc003ocx.1	-	63	4722	c.4494C>T	c.(4492-4494)GGC>GGT	p.G1498G	COL11A2_uc010jul.1_Silent_p.G68G|COL11A2_uc003ocy.1_Silent_p.G1412G|COL11A2_uc003ocz.1_Silent_p.G1391G	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1498	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						GGATCACCTCGCCTGGGGGAC	0.627													A	33133582	G	A	33133582	2	1	55	1	0	0	0	0	0	0	0	1	3668	1074	38	1		1	COL11A2	6	33133582	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	307678	33133582	137981485	605	41953											
COL11A2	1302	broad.mit.edu	37	chr6	33153500	33153500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gataatcaggggttgtccccGtagtcatcacatcataatag	9	9	4	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:33153500G>A	uc003ocx.1	-	6	1082	c.854C>T	c.(853-855)ACG>ATG	p.T285M	COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	285	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						GGTTGTCCCCGTAGTCATCAC	0.483													A	33153500	G	A	33153500	3	1	55	1	0	0	0	0	1	0	0	0	3668	1145	40	1	4600	1	COL11A2	6	33153500	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	19918	33153500	137961567	606	41954											
GRM4	2914	broad.mit.edu	37	chr6	34008337	34008337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccccacctgagaagttgaCgtttcggatgtacttaagca	9	11	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:34008337C>T	uc003oir.3	-	6	1527	c.1357G>A	c.(1357-1359)GTC>ATC	p.V453I	GRM4_uc011dsn.1_Missense_Mutation_p.V406I|GRM4_uc010jvh.2_Missense_Mutation_p.V453I|GRM4_uc010jvi.2_Missense_Mutation_p.V145I|GRM4_uc003oio.2_Missense_Mutation_p.V145I|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.V313I|GRM4_uc003oiq.2_Missense_Mutation_p.V320I|GRM4_uc011dsm.1_Missense_Mutation_p.V284I	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	453	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	GAGAAGTTGACGTTTCGGATG	0.652													T	34008337	C	T	34008337	3	4	55	1	0	0	0	0	1	0	0	0	6799	536	19	1	1401	1	GRM4	6	34008337	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	854837	34008337	137106730	607	41955											
SNRPC	6631	broad.mit.edu	37	chr6	34741334	34741334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactcggcccggaatgactcGaccagacagataaggataga	11	11	0	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:34741334G>A	uc003ojt.1	+	6	482	c.467G>A	c.(466-468)CGA>CAA	p.R156Q		NM_003093	NP_003084	P09234	RU1C_HUMAN	small nuclear ribonucleoprotein polypeptide C	156					spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			pancreas(1)	1						GGAATGACTCGACCAGACAGA	0.537													A	34741334	G	A	34741334	3	1	55	1	0	0	0	0	1	0	0	0	14863	1058	37	1	489	1	SNRPC	6	34741334	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	732997	34741334	136373733	608	41956											
RPL10A	4736	broad.mit.edu	37	chr6	35437275	35437277	+	In_Frame_Del	DEL	CAA	CAA	-													atcgaggcgctgaaaaaactCaacaagaataaaaaactggt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:35437275_35437277delCAA	uc003okp.1	+	4	313_315	c.279_281delCAA	c.(277-282)CTCAAC>CTC	p.N94del	RPL10A_uc003okq.1_In_Frame_Del_p.N10del|RPL10A_uc003okr.1_In_Frame_Del_p.N10del|RPL10A_uc003oks.1_In_Frame_Del_p.N10del	NM_007104	NP_009035	P62906	RL10A_HUMAN	ribosomal protein L10a	94					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			ovary(1)	1						TGAAAAAACTCAACAAGAATAAA	0.532													-	35437277	CAA	-	35437275	7	5	55	1	0	1	0	1	0	0	0	0	13555	813	29	0	293	0	RPL10A	6	35437275	In_Frame_Del	DEL	CAA	TCGA-BR-7851-01A-11D-2201-08	695941	35437275	135677792	609	41957											
SRPK1	6732	broad.mit.edu	37	chr6	35837277	35837277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctttgttgtccagtggtcCgttatgttcttgctcttgtt	9	9	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:35837277C>T	uc003olj.2	-	11	1516	c.1393G>A	c.(1393-1395)GGA>AGA	p.G465R	SRPK1_uc011dtg.1_Missense_Mutation_p.G449R|SRPK1_uc003olh.2_Missense_Mutation_p.G358R|SRPK1_uc003oli.2_Missense_Mutation_p.G358R	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	SFRS protein kinase 1	465	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1						TCCAGTGGTCCGTTATGTTCT	0.418													T	35837277	C	T	35837277	3	4	55	1	0	0	0	0	1	0	0	0	15158	661	23	1	598	1	SRPK1	6	35837277	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	400002	35837277	135277790	610	41958											
TRERF1	55809	broad.mit.edu	37	chr6	42211030	42211030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcgtgtccggtgtttccGccccagccgcatgatctttt	11	14	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:42211030G>A	uc003osd.2	-	15	3378	c.2815C>T	c.(2815-2817)CGG>TGG	p.R939W	TRERF1_uc011duq.1_Missense_Mutation_p.R856W|TRERF1_uc003osb.2_Missense_Mutation_p.R695W|TRERF1_uc003osc.2_Missense_Mutation_p.R695W|TRERF1_uc003ose.2_Missense_Mutation_p.R959W	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	939	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGGTGTTTCCGCCCCAGCCGC	0.567													A	42211030	G	A	42211030	3	1	55	1	0	0	0	0	1	0	0	0	16472	1086	38	1	803	1	TRERF1	6	42211030	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	6373753	42211030	128904037	611	41959											
KIAA0240	23506	broad.mit.edu	37	chr6	42832627	42832627	+	Frame_Shift_Del	DEL	A	A	-													ctgcagaaggaaacatttctAaaaaaacagaatgccttggc					rs139801339		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:42832627delA	uc003osn.1	+	13	2834	c.2683delA	c.(2683-2685)AAAfs	p.K895fs	KIAA0240_uc011duw.1_Frame_Shift_Del_p.K895fs|KIAA0240_uc003osp.1_Frame_Shift_Del_p.K895fs	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	895										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			AAACATTTCTAAAAAAACAGA	0.488													-	42832627	A	-	42832627	7	5	55	1	0	1	0	1	0	0	0	0	8164	363	13	0	2725	0	KIAA0240	6	42832627	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	621597	42832627	128282440	612	41960											
C6orf226	441150	broad.mit.edu	37	chr6	42858503	42858503	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggccggggccgagcaTtggggactgcggggacgctc	20	11	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:42858503T>C	uc003osw.2	-	1	52	c.24A>G	c.(22-24)CAA>CAG	p.Q8Q		NM_001008739	NP_001008739	Q5I0X4	CF226_HUMAN	hypothetical protein LOC441150	8											0						GGGCCGAGCATTGGGGACTGC	0.662													C	42858503	T	C	42858503	2	2	55	1	0	0	0	0	0	0	0	1	2359	1490	52	3		3	C6orf226	6	42858503	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	25876	42858503	128256564	613	41961											
CUL7	9820	broad.mit.edu	37	chr6	43020092	43020092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcaatgctggcataggcGctgagcacgtggacagtgtg	16	9	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:43020092G>A	uc003otq.2	-	2	738	c.435C>T	c.(433-435)AGC>AGT	p.S145S	CUL7_uc011dvb.1_Silent_p.S197S|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	145					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGGCATAGGCGCTGAGCACGT	0.552													A	43020092	G	A	43020092	2	1	55	1	0	0	0	0	0	0	0	1	4060	1078	38	1		1	CUL7	6	43020092	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	161589	43020092	128094975	614	41962											
CUL9	23113	broad.mit.edu	37	chr6	43166449	43166449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actactcctggacttggagcGtgtgctgtgccgtgagggca	15	10	0	1	rs145736095	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:43166449G>A	uc003ouk.2	+	12	2981	c.2906G>A	c.(2905-2907)CGT>CAT	p.R969H	CUL9_uc003oul.2_Missense_Mutation_p.R969H|CUL9_uc010jyk.2_Missense_Mutation_p.R121H	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	969					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GACTTGGAGCGTGTGCTGTGC	0.637													A	43166449	G	A	43166449	3	1	55	1	0	0	0	0	1	0	0	0	4061	1145	40	1	2948	1	CUL9	6	43166449	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	146357	43166449	127948618	615	41963											
ABCC10	89845	broad.mit.edu	37	chr6	43417235	43417235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcagaccatctgcaaaCgctttgccaacaagacagtg	8	13	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:43417235C>T	uc003ouy.1	+	21	4494	c.4279C>T	c.(4279-4281)CGC>TGC	p.R1427C	ABCC10_uc003ouz.1_Missense_Mutation_p.R1399C|ABCC10_uc010jyo.1_Missense_Mutation_p.R533C	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	1427	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CATCTGCAAACGCTTTGCCAA	0.537													T	43417235	C	T	43417235	3	4	55	1	0	0	0	0	1	0	0	0	50	536	19	1	4269	1	ABCC10	6	43417235	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	250786	43417235	127697832	616	41964											
XPO5	57510	broad.mit.edu	37	chr6	43491633	43491634	+	Frame_Shift_Ins	INS	-	-	C													caaagatggtggccaggccaINScccccatcattgtccagcac							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:43491633_43491634insC	uc003ovp.2	-	32	3798_3799	c.3587_3588insG	c.(3586-3588)GGTfs	p.G1196fs	POLR1C_uc003ovo.1_Intron	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	1196					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TGGCCAGGCCACCCCCATCATT	0.485													C	43491634	-	C	43491633	7	5	55	1	0	1	1	0	0	0	0	0	17444	146	6	0	30	0	XPO5	6	43491633	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	74398	43491633	127623434	617	41965	141	2									
XPO5	57510	broad.mit.edu	37	chr6	43491634	43491635	+	Frame_Shift_Ins	INS	-	-	C													aaagatggtggccaggccacINSccccatcattgtccagcacc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:43491633_43491634A>AC	uc003ovp.3	-	31	3798_3799	c.3587_3588T>GT	c.(3586-3588)ggtfs	p.G1196fs	POLR1C_uc003ovo.2_Intron	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	Homo sapiens exportin 5 (XPO5), mRNA.	1196					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TGGCCAGGCCACCCCCATCATT	0.485													C	43491635	-	C	43491634	7	5	55	1	0	1	1	0	0	0	0	0	17444	507	18	0	31	0	XPO5	6	43491634	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	1	43491634	127623433	618	41966	141	2									
CDC5L	988	broad.mit.edu	37	chr6	44371656	44371656	+	Frame_Shift_Del	DEL	A	A	-													taatgccgaaatcccatttgAaaaaaagcctgcccttggtt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:44371655_44371655GA>G	uc003oxl.3	+	5	959	c.649_649GA>G	c.(649-651)gaafs	p.E217fs		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	217					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AATCCCATTTGAAAAAAAGCC	0.398													-	44371656	A	-	44371656	7	5	55	1	0	1	0	1	0	0	0	0	3082	246	9	0	672	0	CDC5L	6	44371656	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	880022	44371656	126743411	619	41967											
TDRD6	221400	broad.mit.edu	37	chr6	46659410	46659410	+	Frame_Shift_Del	DEL	A	A	-													tacaactgaaactcttgaagAaaaaaatgagaatatgaagt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:46659410delA	uc003oyj.2	+	1	3545	c.3545delA	c.(3544-3546)GAAfs	p.E1182fs	TDRD6_uc010jze.2_Frame_Shift_Del_p.E1176fs	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1182					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			ACTCTTGAAGAAAAAAATGAG	0.308													-	46659410	A	-	46659410	7	5	55	1	0	1	0	1	0	0	0	0	15731	246	9	0	3547	0	TDRD6	6	46659410	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	2287754	46659410	124455657	620	41968											
PAQR8	85315	broad.mit.edu	37	chr6	52269023	52269023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctgcagtgctgccaccGcagcccttctgaggcacaaa	10	16	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:52269023G>A	uc003pao.3	+	2	1186	c.1012G>A	c.(1012-1014)GCA>ACA	p.A338T		NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member	338	Helical; Name=7; (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding				0	Lung NSC(77;0.0875)					TGCTGCCACCGCAGCCCTTCT	0.592													A	52269023	G	A	52269023	3	1	55	1	0	0	0	0	1	0	0	0	11441	1087	38	1	1014	1	PAQR8	6	52269023	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5609613	52269023	118846044	621	41969											
KHDRBS2	202559	broad.mit.edu	37	chr6	62604715	62604715	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtccaggtggtgggggaGgaggaatggcacccccacgg	18	11	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:62604715G>T	uc003peg.2	-	6	882	c.635C>A	c.(634-636)CCT>CAT	p.P212H		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	212	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		TGGTGGGGGAGGAGGAATGGC	0.542													T	62604715	G	T	62604715	3	4	55	1	0	0	0	0	1	0	0	0	8147	1000	35	5	430	5	KHDRBS2	6	62604715	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	10335692	62604715	108510352	622	41970											
PHF3	23469	broad.mit.edu	37	chr6	64395471	64395471	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcatcatcctgcacaaacTggacatgtatcacattctag	5	13	4	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:64395471T>A	uc003pep.1	+	3	1874	c.1848T>A	c.(1846-1848)ACT>ACA	p.T616T	PHF3_uc010kaf.1_Silent_p.T616T|PHF3_uc003pem.2_Silent_p.T569T|PHF3_uc010kag.1_Silent_p.T528T|PHF3_uc010kah.1_Silent_p.T430T|PHF3_uc003pen.2_Silent_p.T528T|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Silent_p.T616T	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	616					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CTGCACAAACTGGACATGTAT	0.428													A	64395471	T	A	64395471	2	1	55	1	0	0	0	0	0	0	0	1	11836	1567	55	5		5	PHF3	6	64395471	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	1790756	64395471	106719596	623	41971											
BAI3	577	broad.mit.edu	37	chr6	70071269	70071269	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacttagagcaacatctcgcAccccaggaacatatgcagaa	7	12	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:70071269A>G	uc003pev.3	+	29	4552	c.4104A>G	c.(4102-4104)GCA>GCG	p.A1368A	BAI3_uc010kak.2_Silent_p.A1368A|BAI3_uc011dxx.1_Silent_p.A574A	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1368	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				AACATCTCGCACCCCAGGAAC	0.438													G	70071269	A	G	70071269	2	3	55	1	0	0	0	0	0	0	0	1	1300	146	6	3		3	BAI3	6	70071269	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	5675798	70071269	101043798	624	41972											
FAM135A	57579	broad.mit.edu	37	chr6	71185391	71185392	+	Frame_Shift_Ins	INS	-	-	T													gaaacccttgaggaaatgaaINSttttctattatccttggatc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:71185391_71185392insT	uc003pfj.2	+	5	456_457	c.323_324insT	c.(322-324)AATfs	p.N108fs	FAM135A_uc003pfi.2_Frame_Shift_Ins_p.N108fs|FAM135A_uc003pfh.2_Frame_Shift_Ins_p.N65fs|FAM135A_uc003pfk.2_Frame_Shift_Ins_p.N108fs|FAM135A_uc003pfl.2_5'UTR	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	108										central_nervous_system(1)	1						GAGGAAATGAATTTTCTATTAT	0.287													T	71185392	-	T	71185391	7	5	55	1	0	1	1	0	0	0	0	0	5448	101	4	0	337	0	FAM135A	6	71185391	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	1114122	71185391	99929676	625	41973	142	2									
FAM135A	57579	broad.mit.edu	37	chr6	71185392	71185393	+	Frame_Shift_Ins	INS	-	-	T													aaacccttgaggaaatgaatINStttctattatccttggatct							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:71185391_71185392A>AT	uc003pfj.3	+	4	456_457	c.323_324A>AT	c.(322-324)aatfs	p.N108fs	FAM135A_uc003pfi.3_Frame_Shift_Ins_p.N108fs|FAM135A_uc003pfh.3_Frame_Shift_Ins_p.N65fs|FAM135A_uc003pfk.3_Frame_Shift_Ins_p.N108fs|FAM135A_uc003pfl.3_5'UTR	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	108										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GAGGAAATGAATTTTCTATTAT	0.287													T	71185393	-	T	71185392	7	5	55	1	0	1	1	0	0	0	0	0	5448	1490	52	0	338	0	FAM135A	6	71185392	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	1	71185392	99929675	626	41974	142	2									
RIMS1	22999	broad.mit.edu	37	chr6	73023356	73023356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgtcagagcaatctgagCgccccaggggtagaatcagg	13	9	3	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:73023356C>T	uc003pga.2	+	28	4188	c.4111C>T	c.(4111-4113)CGC>TGC	p.R1371C	RIMS1_uc011dyb.1_Missense_Mutation_p.R768C|RIMS1_uc003pgc.2_Missense_Mutation_p.R820C|RIMS1_uc010kaq.2_Missense_Mutation_p.R691C|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgf.2_Missense_Mutation_p.R380C|RIMS1_uc003pgg.2_Intron|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Missense_Mutation_p.R437C|RIMS1_uc003pge.2_Missense_Mutation_p.R411C|RIMS1_uc011dye.1_Missense_Mutation_p.R177C|RIMS1_uc011dyf.1_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1371	Ser-rich.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCAATCTGAGCGCCCCAGGGG	0.423													T	73023356	C	T	73023356	3	4	55	1	0	0	0	0	1	0	0	0	13367	768	27	1	4384	1	RIMS1	6	73023356	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1837964	73023356	98091711	627	41975											
KCNQ5	56479	broad.mit.edu	37	chr6	73902299	73902299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgatagtgttgatcaaaTtcttggaaaagggcaaatca	9	6	4	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:73902299T>C	uc003pgk.2	+	13	2068	c.1721T>C	c.(1720-1722)ATT>ACT	p.I574T	KCNQ5_uc011dyh.1_Missense_Mutation_p.I593T|KCNQ5_uc011dyi.1_Missense_Mutation_p.I584T|KCNQ5_uc010kat.2_Missense_Mutation_p.I565T|KCNQ5_uc011dyj.1_Missense_Mutation_p.I464T|KCNQ5_uc011dyk.1_Missense_Mutation_p.I324T	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	574					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GTTGATCAAATTCTTGGAAAA	0.418													C	73902299	T	C	73902299	3	2	55	1	0	0	0	0	1	0	0	0	8086	1493	52	3	1832	3	KCNQ5	6	73902299	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	878943	73902299	97212768	628	41976											
MYO6	4646	broad.mit.edu	37	chr6	76623784	76623784	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttctgtgtaatagctcaGcaaaacccagcagctcagat	8	10	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:76623784G>A	uc003pih.1	+	34	3723	c.3444G>A	c.(3442-3444)CAG>CAA	p.Q1148Q	MYO6_uc003pii.1_Silent_p.Q1125Q|MYO6_uc003pij.1_Silent_p.Q96Q	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1157					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TAATAGCTCAGCAAAACCCAG	0.448													A	76623784	G	A	76623784	2	1	55	1	0	0	0	0	0	0	0	1	10081	962	34	2		2	MYO6	6	76623784	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2721485	76623784	94491283	629	41977											
DOPEY1	23033	broad.mit.edu	37	chr6	83848119	83848119	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccggagttctatgtacaTagaaattcttatttctctct	5	9	4	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:83848119T>C	uc003pjs.1	+	21	4618	c.4358T>C	c.(4357-4359)ATA>ACA	p.I1453T	DOPEY1_uc011dyy.1_Missense_Mutation_p.I1444T|DOPEY1_uc010kbl.1_Missense_Mutation_p.I1444T|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1453					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCTATGTACATAGAAATTCTT	0.378													C	83848119	T	C	83848119	3	2	55	1	0	0	0	0	1	0	0	0	4707	1406	49	3	4432	3	DOPEY1	6	83848119	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	7224335	83848119	87266948	630	41978											
PGM3	5238	broad.mit.edu	37	chr6	83885707	83885707	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcccatttgcttcaaaatAaactccaatgtcaaactctt	3	11	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:83885707A>G	uc003pjv.2	-	9	1142	c.1102T>C	c.(1102-1104)TAT>CAT	p.Y368H	PGM3_uc003pjw.2_Missense_Mutation_p.Y287H|PGM3_uc011dyz.1_Missense_Mutation_p.Y396H	NM_015599	NP_056414	O95394	AGM1_HUMAN	phosphoglucomutase 3	368					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GCTTCAAAATAAACTCCAATG	0.373													G	83885707	A	G	83885707	3	3	55	1	0	0	0	0	1	0	0	0	11800	362	13	3	546	3	PGM3	6	83885707	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	37588	83885707	87229360	631	41979											
ZNF292	23036	broad.mit.edu	37	chr6	87970082	87970082	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagaccacgggattggactAagggcaagtaaaacagaaga	13	7	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:87970082A>G	uc003plm.3	+	8	6776	c.6735A>G	c.(6733-6735)CTA>CTG	p.L2245L		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGATTGGACTAAGGGCAAGTA	0.403													G	87970082	A	G	87970082	2	3	55	1	0	0	0	0	0	0	0	1	17823	349	13	3		3	ZNF292	6	87970082	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	4084375	87970082	83144985	632	41980											
EPHA7	2045	broad.mit.edu	37	chr6	94120757	94120757	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatttcaattctacaaaAatcctttgtgcattgccttt	5	8	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:94120757A>T	uc003poe.2	-	3	535	c.294T>A	c.(292-294)ATT>ATA	p.I98I	EPHA7_uc003pof.2_Silent_p.I98I|EPHA7_uc011eac.1_Silent_p.I98I|EPHA7_uc003pog.3_Silent_p.I98I	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	98	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATTCTACAAAAATCCTTTGTG	0.423													T	94120757	A	T	94120757	2	4	55	1	0	0	0	0	0	0	0	1	5172	10	1	5		5	EPHA7	6	94120757	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	6150675	94120757	76994310	633	41981											
SIM1	6492	broad.mit.edu	37	chr6	100838492	100838492	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgtctgatgaggagaTatatccgaatgcagatagtc	11	8	1	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:100838492T>C	uc003pqj.3	-	11	2253	c.2046A>G	c.(2044-2046)ATA>ATG	p.I682M	SIM1_uc010kcu.2_Missense_Mutation_p.I682M	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	682	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GATGAGGAGATATATCCGAAT	0.453													C	100838492	T	C	100838492	3	2	55	1	0	0	0	0	1	0	0	0	14323	1396	49	3	258	3	SIM1	6	100838492	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	6717735	100838492	70276575	634	41982											
SIM1	6492	broad.mit.edu	37	chr6	100895235	100895235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgcacccatacccagcCgccgtgtttcgccaggaacc	9	18	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:100895235C>T	uc003pqj.3	-	8	1114	c.907G>A	c.(907-909)GGC>AGC	p.G303S	SIM1_uc010kcu.2_Missense_Mutation_p.G303S	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	303	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CATACCCAGCCGCCGTGTTTC	0.587													T	100895235	C	T	100895235	3	4	55	1	0	0	0	0	1	0	0	0	14323	652	23	1	1409	1	SIM1	6	100895235	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	56743	100895235	70219832	635	41983											
GPR6	2830	broad.mit.edu	37	chr6	110300686	110300686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacctgttggcgggctgtgGcctcatcttgcactttgtgt	13	10	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:110300686G>A	uc011eaw.1	+	2	551	c.371G>A	c.(370-372)GGC>GAC	p.G124D	GPR6_uc011eav.1_Missense_Mutation_p.G139D|GPR6_uc003ptu.2_Missense_Mutation_p.G124D	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	124	Helical; Name=2; (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GCGGGCTGTGGCCTCATCTTG	0.657													A	110300686	G	A	110300686	3	1	55	1	0	0	0	0	1	0	0	0	6701	1203	42	2	373	2	GPR6	6	110300686	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	9405451	110300686	60814381	636	41984											
DDO	8528	broad.mit.edu	37	chr6	110726062	110726062	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatactgggggaatttctTcagctcagcctcagtcatct	8	12	6	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:110726062T>C	uc003puc.2	-	4	461	c.457A>G	c.(457-459)AAG>GAG	p.K153E	C6orf186_uc003pub.2_Intron|DDO_uc003pud.2_Intron	NM_003649	NP_003640	Q99489	OXDD_HUMAN	D-aspartate oxidase isoform a	125					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			ovary(2)|breast(1)	3		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GGGAATTTCTTCAGCTCAGCC	0.483													C	110726062	T	C	110726062	3	2	55	1	0	0	0	0	1	0	0	0	4334	1792	62	3	660	3	DDO	6	110726062	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	425376	110726062	60389005	637	41985											
SLC16A10	117247	broad.mit.edu	37	chr6	111493979	111493979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagacctatttggttgtcGgaaaacagctgtcgtgggtg	13	8	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:111493979G>A	uc003pus.2	+	2	600	c.425G>A	c.(424-426)CGG>CAG	p.R142Q	SLC16A10_uc003pur.3_Missense_Mutation_p.R142Q	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	solute carrier family 16, member 10	142	Extracellular (Potential).				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity				0		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TTTGGTTGTCGGAAAACAGCT	0.438													A	111493979	G	A	111493979	3	1	55	1	0	0	0	0	1	0	0	0	14403	1116	39	1	431	1	SLC16A10	6	111493979	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	767917	111493979	59621088	638	41986											
ROS1	6098	broad.mit.edu	37	chr6	117681166	117681166	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttatgaggtgaggaaatgGgttgatttctgaaagcaaaa	13	2	1	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:117681166G>T	uc003pxp.1	-	23	3653	c.3454C>A	c.(3454-3456)CCA>ACA	p.P1152T	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1152	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGAGGAAATGGGTTGATTTCT	0.343			T	GOPC|ROS1	glioblastoma|NSCLC								T	117681166	G	T	117681166	3	4	55	1	0	0	0	0	1	0	0	0	13531	1232	43	5	3673	5	ROS1	6	117681166	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	6187187	117681166	53433901	639	41987											
MCM9	254394	broad.mit.edu	37	chr6	119245098	119245098	+	Frame_Shift_Del	DEL	A	A	-													gggacacgaggatggccggcAaaaggtgtaatactgctcaa							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:119245097_119245097CA>C	uc021zeh.1	-	1	515	c.500_500TG>G	c.(499-501)tgcfs	p.C167fs	MCM9_uc003pyh.3_Frame_Shift_Del_p.C167fs	NM_017696	NP_060166	Q9NXL9	MCM9_HUMAN	Homo sapiens minichromosome maintenance complex component 9 (MCM9), transcript variant 1, mRNA.	167					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	p.C167C(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		GGATGGCCGGCAAAAGGTGTA	0.478													-	119245098	A	-	119245098	7	5	55	1	0	1	0	1	0	0	0	0	9394	130	5	0	696	0	MCM9	6	119245098	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	1563932	119245098	51869969	640	41988											
GJA1	2697	broad.mit.edu	37	chr6	121768938	121768938	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgggctaattacagtgcAgaacaaaatcgaatggggca	11	7	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:121768938A>G	uc003pyr.2	+	2	1195	c.945A>G	c.(943-945)GCA>GCG	p.A315A	GJA1_uc011ebo.1_Silent_p.A216A|GJA1_uc011ebp.1_Silent_p.A103A	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	315	Cytoplasmic (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	ATTACAGTGCAGAACAAAATC	0.463													G	121768938	A	G	121768938	2	3	55	1	0	0	0	0	0	0	0	1	6400	175	7	3		3	GJA1	6	121768938	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	2523840	121768938	49346129	641	41989											
RNF217	154214	broad.mit.edu	37	chr6	125404041	125404042	+	Frame_Shift_Ins	INS	-	-	A													ttcctatctattgcctttgtINSaaaaaacagagaaaacgatc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:125404041_125404042insA	uc003pzs.2	+	9	1164_1165	c.826_827insA	c.(826-828)TAAfs	p.*276fs	RNF217_uc003pzr.2_Frame_Shift_Ins_p.C294fs|RNF217_uc003pzt.2_RNA	NM_152553	NP_689766	Q8TC41	RN217_HUMAN	ring finger protein 217	276					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		ATTGCCTTTGTAAAAAACAGAG	0.366													A	125404042	-	A	125404041	7	5	55	1	0	1	1	0	0	0	0	0	13481	1651	57	0	852	0	RNF217	6	125404041	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	3635103	125404041	45711026	642	41990	143	2									
RNF217	154214	broad.mit.edu	37	chr6	125404042	125404043	+	Frame_Shift_Ins	INS	-	-	A													tcctatctattgcctttgtaINSaaaaacagagaaaacgatca							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:125404041_125404042T>TA	uc003pzr.3	+	5	1416_1417	c.882_883T>TA	c.(880-885)tgtaaafs	p.C294fs	RNF217_uc003pzs.3_Frame_Shift_Ins_p.*276fs|RNF217_uc003pzt.3_Non-coding_Transcript			Q8TC41	RN217_HUMAN	Homo sapiens ring finger protein 217 (RNF217), mRNA.	104					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		ATTGCCTTTGTAAAAAACAGAG	0.366													A	125404043	-	A	125404042	7	5	55	1	0	1	1	0	0	0	0	0	13481	369	13	0	853	0	RNF217	6	125404042	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	1	125404042	45711025	643	41991	143	2									
KIAA0408	9729	broad.mit.edu	37	chr6	127771252	127771253	+	Frame_Shift_Ins	INS	-	-	T													ccaaaaaccctacttttgatINSttttttgttgctttttgttc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:127771251_127771252A>AT	uc011ebs.2	-	2	717_718	c.381_382T>AT	c.(379-384)aaatcafs	p.K127fs	KIAA0408_uc003qbc.3_Frame_Shift_Ins_p.K127fs|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qbb.3_Frame_Shift_Ins_p.K10fs	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	127							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CCTACTTTTGATTTTTTTGTTG	0.421													T	127771253	-	T	127771252	7	5	55	1	0	1	1	0	0	0	0	0	8174	1490	52	0	1719	0	KIAA0408	6	127771252	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	2367210	127771252	43343815	644	41992											
C6orf174	387104	broad.mit.edu	37	chr6	127796465	127796465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggaaatgggctcctcggcGccgcggtcgtccgcagactt	14	14	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:127796465G>A	uc003qbd.2	-	6	3571	c.2706C>T	c.(2704-2706)GGC>GGT	p.G902G	C6orf174_uc003qbc.2_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	902						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		GCTCCTCGGCGCCGCGGTCGT	0.662													A	127796465	G	A	127796465	2	1	55	1	0	0	0	0	0	0	0	1	2345	1074	38	1		1	C6orf174	6	127796465	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	25213	127796465	43318602	645	41993											
PTPRK	5796	broad.mit.edu	37	chr6	128411122	128411123	+	Frame_Shift_Ins	INS	-	-	G													agcaatctttaatgtctttgINSgggttctcataggttctgaa					rs13219828		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:128411121_128411122T>TG	uc003qbk.3	-	7	1545_1546	c.1178_1179A>CA	c.(1177-1179)ccafs	p.P393fs	PTPRK_uc010kfc.3_Frame_Shift_Ins_p.P393fs|PTPRK_uc003qbj.3_Frame_Shift_Ins_p.P393fs|PTPRK_uc011ebu.2_Frame_Shift_Ins_p.P393fs|PTPRK_uc003qbl.1_Frame_Shift_Ins_p.P263fs|PTPRK_uc011ebv.1_Frame_Shift_Ins_p.P393fs	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	393	Fibronectin type-III 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTAATGTCTTTGGGGTTCTCAT	0.366													G	128411123	-	G	128411122	7	5	55	1	0	1	1	0	0	0	0	0	12805	1348	47	0	3258	0	PTPRK	6	128411122	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	614657	128411122	42703945	646	41994											
TAAR9	134860	broad.mit.edu	37	chr6	132860086	132860086	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtttatatacagtaagAtatttttggtggccaagcat	10	4	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:132860086A>G	uc011eci.1	+	2	660	c.658A>G	c.(658-660)ATA>GTA	p.I220V		NM_175057	NP_778227	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9	220	Cytoplasmic (Potential).					plasma membrane	G-protein coupled receptor activity				0	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		ATACAGTAAGATATTTTTGGT	0.433													G	132860086	A	G	132860086	3	3	55	1	0	0	0	0	1	0	0	0	15491	333	12	3	660	3	TAAR9	6	132860086	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	4448964	132860086	38254981	647	41995											
HBS1L	10767	broad.mit.edu	37	chr6	135308816	135308816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaactgcaactgcaagctgCgtcactcccagagaacggac	9	13	1	1	rs140835228		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:135308816C>T	uc003qez.2	-	9	1404	c.1197G>A	c.(1195-1197)ACG>ACA	p.T399T	HBS1L_uc003qey.2_Silent_p.T235T|HBS1L_uc011ecy.1_Silent_p.T123T|HBS1L_uc011ecz.1_Silent_p.T235T|HBS1L_uc011eda.1_Silent_p.T357T	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Hsp70 subfamily B suppressor 1-like protein	399					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			skin(2)	2	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CTGCAAGCTGCGTCACTCCCA	0.423													T	135308816	C	T	135308816	2	4	55	1	0	0	0	0	0	0	0	1	6987	755	27	1		1	HBS1L	6	135308816	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2448730	135308816	35806251	648	41996											
KIAA1244	57221	broad.mit.edu	37	chr6	138615258	138615258	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgattactctctggcaaTgccaggtaattctttccctg	8	10	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:138615258T>C	uc003qhu.2	+	20	3497	c.3497T>C	c.(3496-3498)ATG>ACG	p.M1166T		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1166					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCTCTGGCAATGCCAGGTAAT	0.468													C	138615258	T	C	138615258	3	2	55	1	0	0	0	0	1	0	0	0	8217	1464	51	3	3575	3	KIAA1244	6	138615258	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	3306442	138615258	32499809	649	41997											
KIAA1244	57221	broad.mit.edu	37	chr6	138628431	138628431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggttgaagtgtgttccacGcagatccagtcgggatggag	15	8	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:138628431G>A	uc003qhu.2	+	23	3870	c.3870G>A	c.(3868-3870)ACG>ACA	p.T1290T		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1290					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGTGTTCCACGCAGATCCAGT	0.507													A	138628431	G	A	138628431	2	1	55	1	0	0	0	0	0	0	0	1	8217	1074	38	1		1	KIAA1244	6	138628431	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	13173	138628431	32486636	650	41998											
KIAA1244	57221	broad.mit.edu	37	chr6	138655648	138655648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggatgcccttgctcagcGtccagcctgtcagcaacgca	10	16	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:138655648G>A	uc003qhu.2	+	33	5665	c.5665G>A	c.(5665-5667)GTC>ATC	p.V1889I		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1889					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTTGCTCAGCGTCCAGCCTGT	0.567													A	138655648	G	A	138655648	3	1	55	1	0	0	0	0	1	0	0	0	8217	1145	40	1	5795	1	KIAA1244	6	138655648	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	27217	138655648	32459419	651	41999											
SASH1	23328	broad.mit.edu	37	chr6	148711347	148711347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtttctccgacgtgtgCgagaggatggaggagctgcg	16	9	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:148711347C>T	uc003qme.1	+	2	709	c.234C>T	c.(232-234)TGC>TGT	p.C78C		NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	78							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCGACGTGTGCGAGAGGATGG	0.552													T	148711347	C	T	148711347	2	4	55	1	0	0	0	0	0	0	0	1	13848	776	27	1		1	SASH1	6	148711347	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	10055699	148711347	22403720	652	42000											
LATS1	9113	broad.mit.edu	37	chr6	150016247	150016247	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttaataggtctggcagctgcTgcagccatctgctctcgtcg	11	12	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:150016247T>A	uc003qmu.1	-	3	1007	c.459A>T	c.(457-459)GCA>GCT	p.A153A	LATS1_uc010kif.1_Silent_p.A48A|LATS1_uc003qmv.1_Silent_p.A153A|LATS1_uc003qmw.2_Silent_p.A153A|LATS1_uc010kig.1_Silent_p.A48A	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	153					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TGGCAGCTGCTGCAGCCATCT	0.358													A	150016247	T	A	150016247	2	1	55	1	0	0	0	0	0	0	0	1	8646	1567	55	5		5	LATS1	6	150016247	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	1304900	150016247	21098820	653	42001											
SYNE1	23345	broad.mit.edu	37	chr6	152542668	152542668	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttctgtaagctcctttcCtgtttttccagatcatcttg	5	10	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:152542668C>T	uc010kiw.2	-	118	22151	c.21549G>A	c.(21547-21549)CAG>CAA	p.Q7183Q	SYNE1_uc010kiv.2_Silent_p.Q1707Q|SYNE1_uc003qos.3_Silent_p.Q1707Q|SYNE1_uc003qot.3_Silent_p.Q7112Q|SYNE1_uc003qou.3_Silent_p.Q7183Q|SYNE1_uc003qor.3_Silent_p.Q83Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7183	Cytoplasmic (Potential).|Spectrin 23.				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)		AGCTCCTTTCCTGTTTTTCCA	0.368										HNSCC(10;0.0054)			T	152542668	C	T	152542668	2	4	55	1	0	0	0	0	0	0	0	1	15442	680	24	4		4	SYNE1	6	152542668	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2526421	152542668	18572399	654	42002											
SYNE1	23345	broad.mit.edu	37	chr6	152555882	152555882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagtccaaaattctagcCggtcttttgcagattgtaac	9	9	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:152555882C>T	uc010kiw.2	-	111	21052	c.20450G>A	c.(20449-20451)CGG>CAG	p.R6817Q	SYNE1_uc010kiv.2_Missense_Mutation_p.R1341Q|SYNE1_uc003qos.3_Missense_Mutation_p.R1341Q|SYNE1_uc003qot.3_Missense_Mutation_p.R6746Q|SYNE1_uc003qou.3_Missense_Mutation_p.R6817Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6817	Spectrin 21.|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)		AAATTCTAGCCGGTCTTTTGC	0.383										HNSCC(10;0.0054)			T	152555882	C	T	152555882	3	4	55	1	0	0	0	0	1	0	0	0	15442	652	23	1	6160	1	SYNE1	6	152555882	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	13214	152555882	18559185	655	42003											
OPRM1	4988	broad.mit.edu	37	chr6	154360894	154360894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccatgatcacggccatcaCgatcatggccctctactcca	6	17	4	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:154360894C>T	uc003qpr.2	+	1	452	c.215C>T	c.(214-216)ACG>ATG	p.T72M	OPRM1_uc011efb.1_Missense_Mutation_p.T120M|OPRM1_uc011efc.1_Intron|OPRM1_uc011efd.1_Intron|OPRM1_uc011efe.1_Missense_Mutation_p.T165M|OPRM1_uc003qpn.2_Missense_Mutation_p.T72M|OPRM1_uc003qpo.1_Missense_Mutation_p.T72M|OPRM1_uc011eff.1_Missense_Mutation_p.T72M|OPRM1_uc011efg.1_Missense_Mutation_p.T72M|OPRM1_uc011efh.1_Missense_Mutation_p.T72M|OPRM1_uc003qpq.1_Missense_Mutation_p.T72M|OPRM1_uc003qpt.1_Missense_Mutation_p.T72M|OPRM1_uc011efi.1_Missense_Mutation_p.T72M|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA	NM_000914	NP_000905	P35372	OPRM_HUMAN	opioid receptor, mu 1 isoform MOR-1	72	Helical; Name=1; (Potential).				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			ovary(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	ACGGCCATCACGATCATGGCC	0.622													T	154360894	C	T	154360894	3	4	55	1	0	0	0	0	1	0	0	0	10887	536	19	1	551	1	OPRM1	6	154360894	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1805012	154360894	16754173	656	42004											
FNDC1	84624	broad.mit.edu	37	chr6	159655393	159655393	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggccgcagtacaccacGcgcgccccacctggccactt	9	21	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:159655393G>A	uc010kjv.2	+	11	4049	c.3849G>A	c.(3847-3849)ACG>ACA	p.T1283T	FNDC1_uc010kjw.1_Silent_p.T1168T	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1283						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGTACACCACGCGCGCCCCAC	0.701													A	159655393	G	A	159655393	2	1	55	1	0	0	0	0	0	0	0	1	5968	1074	38	1		1	FNDC1	6	159655393	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5294499	159655393	11459674	657	42005											
MLLT4	4301	broad.mit.edu	37	chr6	168347522	168347522	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagtgaaccaaagaaattgcCtggtgatgacagactgatga	11	6	0	7			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:168347522C>A	uc003qwd.2	+	26	3612	c.3470C>A	c.(3469-3471)CCT>CAT	p.P1157H	MLLT4_uc003qwb.1_Missense_Mutation_p.P1142H|MLLT4_uc003qwc.1_Missense_Mutation_p.P1158H|MLLT4_uc003qwg.1_Missense_Mutation_p.P467H	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1158					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AAGAAATTGCCTGGTGATGAC	0.428			T	MLL	AL								A	168347522	C	A	168347522	3	1	55	1	0	0	0	0	1	0	0	0	9629	681	24	5	3575	5	MLLT4	6	168347522	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	8692129	168347522	2767545	658	42006											
THBS2	7058	broad.mit.edu	37	chr6	169641950	169641950	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcctcgcacgagcgttcGcacacctcgggcctcctctc	9	19	1	0	rs148909888	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:169641950G>A	uc003qwt.2	-	6	1046	c.798C>T	c.(796-798)TGC>TGT	p.C266C		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	266					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ACGAGCGTTCGCACACCTCGG	0.627													A	169641950	G	A	169641950	2	1	55	1	0	0	0	0	0	0	0	1	15851	1079	38	1		1	THBS2	6	169641950	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1294428	169641950	1473117	659	42007											
C6orf70	55780	broad.mit.edu	37	chr6	170176757	170176757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcggcagaactacctgcGtatgtggagtaggtgcgcgc	15	11	0	1	rs140632188	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:170176757G>A	uc003qxg.1	+	16	1760	c.1727G>A	c.(1726-1728)CGT>CAT	p.R576H	C6orf70_uc011ehb.1_Missense_Mutation_p.R450H|C6orf70_uc003qxh.1_Intron|C6orf70_uc010kky.1_Intron|C6orf70_uc003qxi.1_Missense_Mutation_p.R224H	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	hypothetical protein LOC55780	576						integral to membrane				ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		AACTACCTGCGTATGTGGAGT	0.592													A	170176757	G	A	170176757	3	1	55	1	0	0	0	0	1	0	0	0	2370	1145	40	1	1789	1	C6orf70	6	170176757	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	534807	170176757	938310	660	42008											
PDCD2	5134	broad.mit.edu	37	chr6	170892652	170892652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagggtctgatgctccttgCtgcagtaatatgctttgtgg	12	8	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:170892652C>T	uc003qxw.2	-	2	546	c.467G>A	c.(466-468)AGC>AAC	p.S156N	PDCD2_uc003qxv.2_Missense_Mutation_p.S123N|PDCD2_uc003qxx.1_Missense_Mutation_p.S156N|PDCD2_uc003qxy.2_Missense_Mutation_p.S123N|PDCD2_uc003qxz.2_Missense_Mutation_p.S156N|PDCD2_uc003qya.2_Missense_Mutation_p.S123N|PDCD2_uc003qyb.1_Missense_Mutation_p.S79N	NM_002598	NP_002589	Q16342	PDCD2_HUMAN	programmed cell death 2 isoform 1	156	MYND-type.				apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding				0		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		ATGCTCCTTGCTGCAGTAATA	0.483													T	170892652	C	T	170892652	3	4	55	1	0	0	0	0	1	0	0	0	11619	797	28	2	616	2	PDCD2	6	170892652	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	715895	170892652	222415	661	42009											
HEATR2	54919	broad.mit.edu	37	chr7	803547	803547	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagcgggtgaccgcgtcGcaccttgactggaccgcaca	14	14	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:803547G>A	uc010krz.1	+	8	1739	c.1719G>A	c.(1717-1719)TCG>TCA	p.S573S	HEATR2_uc003siz.2_Silent_p.S441S|HEATR2_uc003sja.2_Silent_p.S31S	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	573							protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TGACCGCGTCGCACCTTGACT	0.652													A	803547	G	A	803547	2	1	55	1	0	0	0	0	0	0	0	1	7028	1074	38	1		1	HEATR2	7	803547	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08		803547	158335116	662	42010											
MICALL2	79778	broad.mit.edu	37	chr7	1488324	1488324	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgctcagccggtcaggcAccttcaaggccaccatgtcc	10	15	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:1488324A>G	uc003skj.3	-	3	413	c.266T>C	c.(265-267)GTG>GCG	p.V89A		NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	MICAL-like 2 isoform 1	89	CH.					cytoplasm|cytoskeleton	zinc ion binding			central_nervous_system(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCGGTCAGGCACCTTCAAGGC	0.657													G	1488324	A	G	1488324	3	3	55	1	0	0	0	0	1	0	0	0	9574	159	6	3	2508	3	MICALL2	7	1488324	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	684777	1488324	157650339	663	42011											
C7orf27	221927	broad.mit.edu	37	chr7	2582910	2582910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcagctcagagcccgcGccactgtctcccacaggctg	11	18	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:2582910G>A	uc003smi.2	-	6	893	c.851C>T	c.(850-852)GCG>GTG	p.A284V	C7orf27_uc003smh.3_5'Flank|C7orf27_uc003smj.1_3'UTR	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	284					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		CAGAGCCCGCGCCACTGTCTC	0.592													A	2582910	G	A	2582910	3	1	55	1	0	0	0	0	1	0	0	0	2382	1087	38	1	1650	1	C7orf27	7	2582910	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1094586	2582910	156555753	664	42012											
CARD11	84433	broad.mit.edu	37	chr7	2976742	2976742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgacgatgcaggcctcccGccgcaccatctcgatcctca	9	17	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:2976742G>A	uc003smv.2	-	9	1674	c.1270C>T	c.(1270-1272)CGG>TGG	p.R424W		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	424	Potential.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CAGGCCTCCCGCCGCACCATC	0.612			Mis		DLBCL								A	2976742	G	A	2976742	3	1	55	1	0	0	0	0	1	0	0	0	2645	1086	38	1	2262	1	CARD11	7	2976742	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	393832	2976742	156161921	665	42013											
SDK1	221935	broad.mit.edu	37	chr7	3991509	3991509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcggcgctgccggggagCgcttttgaaccggccagggc	19	12	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:3991509C>T	uc003smx.2	+	7	1246	c.1107C>T	c.(1105-1107)AGC>AGT	p.S369S		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	369	Ig-like C2-type 3.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGCCGGGGAGCGCTTTTGAAC	0.607													T	3991509	C	T	3991509	2	4	55	1	0	0	0	0	0	0	0	1	13968	767	27	1		1	SDK1	7	3991509	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1014767	3991509	155147154	666	42014											
FOXK1	221937	broad.mit.edu	37	chr7	4799028	4799028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccgtggcctacatgcccGcctccatcgtaacctcacag	8	18	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:4799028G>A	uc003snc.1	+	7	1508	c.1498G>A	c.(1498-1500)GCC>ACC	p.A500T	FOXK1_uc003sna.1_Missense_Mutation_p.A337T	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	forkhead box K1	500					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			upper_aerodigestive_tract(1)|skin(1)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CTACATGCCCGCCTCCATCGT	0.697													A	4799028	G	A	4799028	3	1	55	1	0	0	0	0	1	0	0	0	6014	1087	38	1	1524	1	FOXK1	7	4799028	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	807519	4799028	154339635	667	42015											
DAGLB	221955	broad.mit.edu	37	chr7	6456489	6456489	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacaggagcaatgctgaaggCttggctcaaaatcccgtcgt	11	11	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:6456489C>A	uc003sqa.2	-	10	1452	c.1282G>T	c.(1282-1284)GCC>TCC	p.A428S	DAGLB_uc003spy.2_5'UTR|DAGLB_uc003spz.2_Missense_Mutation_p.A125S|DAGLB_uc011jwt.1_Missense_Mutation_p.A242S|DAGLB_uc011jwu.1_Missense_Mutation_p.A299S|DAGLB_uc003sqb.2_Missense_Mutation_p.A147S|DAGLB_uc003sqc.2_Missense_Mutation_p.A147S|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.A387S|DAGLB_uc011jww.1_RNA	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	428	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		ATGCTGAAGGCTTGGCTCAAA	0.453													A	6456489	C	A	6456489	3	1	55	1	0	0	0	0	1	0	0	0	4227	797	28	5	760	5	DAGLB	7	6456489	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1657461	6456489	152682174	668	42016											
NPVF	64111	broad.mit.edu	37	chr7	25266466	25266466	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagatctcagaggcaggttGgctgttgctccagcacttct	11	12	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:25266466G>A	uc003sxo.2	-	2	365	c.318C>T	c.(316-318)GCC>GCT	p.A106A		NM_022150	NP_071433	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	106					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			ovary(1)	1						GAGGCAGGTTGGCTGTTGCTC	0.488													A	25266466	G	A	25266466	2	1	55	1	0	0	0	0	0	0	0	1	10605	1335	47	4		4	NPVF	7	25266466	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	18809977	25266466	133872197	669	42017											
PDE1C	5137	broad.mit.edu	37	chr7	31862802	31862802	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgatcggggcacttccCtctgaaccagaggtcttgac	11	11	2	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:31862802C>A	uc003tcm.1	-	14	1936	c.1467G>T	c.(1465-1467)GAG>GAT	p.E489D	PDE1C_uc003tcn.1_Missense_Mutation_p.E489D|PDE1C_uc003tco.1_Missense_Mutation_p.E549D|PDE1C_uc003tcr.2_Missense_Mutation_p.E489D|PDE1C_uc003tcs.2_Missense_Mutation_p.E489D	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	489	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			GGGCACTTCCCTCTGAACCAG	0.458													A	31862802	C	A	31862802	3	1	55	1	0	0	0	0	1	0	0	0	11635	680	24	5	453	5	PDE1C	7	31862802	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	6596336	31862802	127275861	670	42018											
FKBP9	11328	broad.mit.edu	37	chr7	33014804	33014804	+	Frame_Shift_Del	DEL	C	C	-													taatttctagctggtgtgatCccccccaattcagtgcttca							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:33014803_33014803TC>T	uc011kal.2	+	3	717	c.536_536TC>T	c.(535-537)atcfs	p.I179fs	AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Non-coding_Transcript|FKBP9_uc003tdh.3_Frame_Shift_Del_p.I126fs|FKBP9_uc010kwm.3_Frame_Shift_Del_p.I33fs	NM_007270	NP_009201	O95302	FKBP9_HUMAN	Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA.	126	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAAT	0.443													-	33014804	C	-	33014804	7	5	55	1	0	1	0	1	0	0	0	0	5915	845	30	0	388	0	FKBP9	7	33014804	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	1152002	33014804	126123859	671	42019											
NT5C3	51251	broad.mit.edu	37	chr7	33057165	33057165	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccgaaaatatgaacacGgggatgctatgttgttggag	13	7	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:33057165G>A	uc003tdk.2	-	7	671	c.594C>T	c.(592-594)CCC>CCT	p.P198P	AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Silent_p.P159P|NT5C3_uc003tdj.2_Silent_p.P159P	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	5'-nucleotidase, cytosolic III isoform 1	198					nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1			GBM - Glioblastoma multiforme(11;0.0894)			ATATGAACACGGGGATGCTAT	0.383													A	33057165	G	A	33057165	2	1	55	1	0	0	0	0	0	0	0	1	10688	1103	39	1		1	NT5C3	7	33057165	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	42361	33057165	126081498	672	42020											
ARPP21	10777	broad.mit.edu	37	chr7	38313227	38313227	+	Frame_Shift_Del	DEL	T	T	-													tccgggaccaaataccttgaTttttttgcccaactcttgcc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:38313226_38313226AT>A	uc003tge.1	-	3	766	c.389_389AT>T	c.(388-390)atcfs	p.I130fs	ARPP21_uc003tfv.3_Intron|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_5'UTR|ARPP21_uc003tgc.1_5'UTR|ARPP21_uc003tgd.1_Intron|ARPP21_uc010kxi.1_Intron|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAATACCTTGATTTTTTTGCC	0.393													-	38313227	T	-	38313227	7	5	55	1	0	1	0	1	0	0	0	0	978	1508	52	0		0	ARPP21	7	38313227	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	5256062	38313227	120825436	673	42021											
GLI3	2737	broad.mit.edu	37	chr7	42005573	42005573	+	Frame_Shift_Del	DEL	G	G	-													ccgcggacgtggccatcgccGgggggttgcagctgctgagg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:42005572_42005572CG>C	uc011kbh.2	-	14	3190	c.3099_3099CG>G	c.(3097-3099)ccgfs	p.P1033fs	GLI3_uc011kbg.2_Frame_Shift_Del_p.P974fs	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1033					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGGCCATCGCCGGGGGGTTGC	0.701									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				-	42005573	G	-	42005573	7	5	55	1	0	1	0	1	0	0	0	0	6439	1116	39	0	1648	0	GLI3	7	42005573	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	3692346	42005573	117133090	674	42022											
HECW1	23072	broad.mit.edu	37	chr7	43547694	43547694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcgcggaaagagctccagcGaaacaagctctacgtcacct	9	13	2	1	rs150833111	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:43547694G>A	uc003tid.1	+	23	4435	c.3830G>A	c.(3829-3831)CGA>CAA	p.R1277Q	HECW1_uc011kbi.1_Missense_Mutation_p.R1243Q	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1277	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GAGCTCCAGCGAAACAAGCTC	0.547													A	43547694	G	A	43547694	3	1	55	1	0	0	0	0	1	0	0	0	7042	1058	37	1	3912	1	HECW1	7	43547694	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1542121	43547694	115590969	675	42023											
HECW1	23072	broad.mit.edu	37	chr7	43590095	43590095	+	Frame_Shift_Del	DEL	A	A	-													ccaacacacaggtgacggagAaaaacaagaaggagtacatc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:43590094_43590094GA>G	uc003tid.1	+	26	4904	c.4299_4299GA>G	c.(4297-4299)gagfs	p.E1433fs	HECW1_uc011kbi.1_Frame_Shift_Del_p.E1399fs	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1433	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGGTGACGGAGAAAAACAAGA	0.542													-	43590095	A	-	43590095	7	5	55	1	0	1	0	1	0	0	0	0	7042	247	9	0	4398	0	HECW1	7	43590095	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	42401	43590095	115548568	676	42024											
DBNL	28988	broad.mit.edu	37	chr7	44096401	44096401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccgaggaggatgtggagCctgagtgcatcatggagaag	19	6	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:44096401C>T	uc003tjp.3	+	5	471	c.373C>T	c.(373-375)CCT>TCT	p.P125S	DBNL_uc003tjn.2_5'UTR|DBNL_uc003tjo.3_Missense_Mutation_p.P125S|DBNL_uc003tjr.3_5'UTR|DBNL_uc003tjq.3_Missense_Mutation_p.P125S|DBNL_uc011kbm.1_Missense_Mutation_p.P100S|DBNL_uc011kbn.1_Missense_Mutation_p.P22S|DBNL_uc011kbo.1_Missense_Mutation_p.P25S|DBNL_uc011kbp.1_Intron|DBNL_uc011kbq.1_Missense_Mutation_p.P50S|DBNL_uc011kbr.1_Missense_Mutation_p.P73S|DBNL_uc011kbs.1_Missense_Mutation_p.P22S	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	drebrin-like isoform b	125	ADF-H.				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			skin(1)	1						GGATGTGGAGCCTGAGTGCAT	0.612													T	44096401	C	T	44096401	3	4	55	1	0	0	0	0	1	0	0	0	4255	739	26	2	391	2	DBNL	7	44096401	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	506306	44096401	115042262	677	42025											
POLM	27434	broad.mit.edu	37	chr7	44120414	44120414	+	Frame_Shift_Del	DEL	G	G	-													agcttatgtccagcagagctGggggggtgcaacccggggga							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:44120413_44120413TG>T	uc003tjt.3	-	1	383	c.291_291CA>A	c.(289-291)ccafs	p.P97fs	POLM_uc003tju.3_Frame_Shift_Del_p.P97fs|POLM_uc003tjv.3_Non-coding_Transcript|POLM_uc003tjx.2_Frame_Shift_Del_p.P97fs|POLM_uc011kbt.1_5'UTR|POLM_uc003tjz.4_Frame_Shift_Del_p.P97fs|POLM_uc003tka.1_5'Flank|POLM_uc011kbu.1_Frame_Shift_Del_p.P97fs|POLM_uc010kxy.2_Frame_Shift_Del_p.P97fs	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	Homo sapiens polymerase (DNA directed), mu (POLM), mRNA.	97	BRCT.				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCAGCAGAGCTGGGGGGGTGC	0.637								DNA polymerases (catalytic subunits)					-	44120414	G	-	44120414	7	5	55	1	0	1	0	1	0	0	0	0	12206	1348	47	0	1234	0	POLM	7	44120414	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	24013	44120414	115018249	678	42026											
AEBP1	165	broad.mit.edu	37	chr7	44149688	44149688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctccatgctgcgccacGgcctgggggcacagcgcggc	14	18	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:44149688G>A	uc003tkb.2	+	10	1530	c.1225G>A	c.(1225-1227)GGC>AGC	p.G409S	AEBP1_uc003tkc.3_5'Flank|AEBP1_uc003tkd.2_5'Flank	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	409	Required for DNA-binding and interaction with NFKBIA (By similarity).|F5/8 type C.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GCTGCGCCACGGCCTGGGGGC	0.637													A	44149688	G	A	44149688	3	1	55	1	0	0	0	0	1	0	0	0	349	1116	39	1	1263	1	AEBP1	7	44149688	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	29274	44149688	114988975	679	42027											
CAMK2B	816	broad.mit.edu	37	chr7	44286737	44286737	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accttgaggtctctgtggacGacccccatttggtgacaatg	11	11	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:44286737G>A	uc003tkq.2	-	6	606	c.396C>T	c.(394-396)GTC>GTT	p.V132V	CAMK2B_uc003tkp.2_Silent_p.V132V|CAMK2B_uc003tkx.2_Silent_p.V132V|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Silent_p.V132V|CAMK2B_uc003tks.2_Silent_p.V132V|CAMK2B_uc003tku.2_Silent_p.V132V|CAMK2B_uc003tkv.2_Silent_p.V132V|CAMK2B_uc003tkt.2_Silent_p.V132V|CAMK2B_uc003tkw.2_Silent_p.V132V|CAMK2B_uc010kyc.2_Silent_p.V132V	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II	132	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)|ovary(1)	2						CTCTGTGGACGACCCCCATTT	0.577													A	44286737	G	A	44286737	2	1	55	1	0	0	0	0	0	0	0	1	2600	1045	37	1		1	CAMK2B	7	44286737	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	137049	44286737	114851926	680	42028											
TBRG4	9238	broad.mit.edu	37	chr7	45145252	45145252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacttgagcttccgcatgcGccagcggacctcctgctcca	10	16	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:45145252G>A	uc003tmv.2	-	3	649	c.523C>T	c.(523-525)CGC>TGC	p.R175C	TBRG4_uc003tmu.2_5'UTR|TBRG4_uc003tmw.2_Missense_Mutation_p.R175C|TBRG4_uc003tmx.2_Missense_Mutation_p.R175C|TBRG4_uc011kcd.1_Missense_Mutation_p.R186C|SNORA5A_uc003tmy.2_5'Flank|SNORA5C_uc003tmz.1_5'Flank	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	cell cycle progression 2 protein isoform 1	175					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity				0						TTCCGCATGCGCCAGCGGACC	0.632													A	45145252	G	A	45145252	3	1	55	1	0	0	0	0	1	0	0	0	15646	1087	38	1	1408	1	TBRG4	7	45145252	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	858515	45145252	113993411	681	42029											
SUN3	256979	broad.mit.edu	37	chr7	48048635	48048635	+	Frame_Shift_Del	DEL	A	A	-													caaaagatcgcactcactttAaaagttccagttgctcttta							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:48048634_48048634TA>T	uc003tof.3	-	4	424	c.327_327TA>A	c.(325-327)ttafs	p.L109fs	SUN3_uc010kyq.3_Frame_Shift_Del_p.L9fs|SUN3_uc003tog.3_Frame_Shift_Del_p.L109fs|SUN3_uc011kcf.2_Frame_Shift_Del_p.L97fs	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.	109						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCACTCACTTTAAAAGTTCCA	0.338													-	48048635	A	-	48048635	7	5	55	1	0	1	0	1	0	0	0	0	15390	372	13	0	775	0	SUN3	7	48048635	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	2903383	48048635	111090028	682	42030											
ZPBP	11055	broad.mit.edu	37	chr7	50097612	50097612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatattttagttgaagacGtttaacaatttcttccacag	6	7	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:50097612G>A	uc003tou.2	-	4	530	c.460C>T	c.(460-462)CGT>TGT	p.R154C	ZPBP_uc011kci.1_Missense_Mutation_p.R80C|ZPBP_uc010kyw.2_Missense_Mutation_p.R153C	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein isoform 1	154					binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)					AGTTGAAGACGTTTAACAATT	0.294													A	50097612	G	A	50097612	3	1	55	1	0	0	0	0	1	0	0	0	18216	1145	40	1	615	1	ZPBP	7	50097612	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2048977	50097612	109041051	683	42031											
EGFR	1956	broad.mit.edu	37	chr7	55266518	55266518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacgcctccctcagccacCcatatgtaccatcgatgtct	6	16	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:55266518C>T	uc003tqk.2	+	23	3056	c.2810C>T	c.(2809-2811)CCC>CTC	p.P937L	EGFR_uc010kzg.1_Missense_Mutation_p.P892L|EGFR_uc011kco.1_Missense_Mutation_p.P884L	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	937	Cytoplasmic (Potential).|Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCTCAGCCACCCATATGTACC	0.532		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55266518	C	T	55266518	3	4	55	1	0	0	0	0	1	0	0	0	4967	623	22	4	3164	4	EGFR	7	55266518	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	5168906	55266518	103872145	684	42032											
TYW1	55253	broad.mit.edu	37	chr7	66548503	66548503	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagccattgaaaaccatcAgaacatgattaagcagttta	8	7	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:66548503A>G	uc003tvn.2	+	11	1510	c.1361A>G	c.(1360-1362)CAG>CGG	p.Q454R	TYW1_uc010lai.2_RNA|TYW1_uc011kef.1_Missense_Mutation_p.Q68R	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	radical S-adenosyl methionine and flavodoxin	454					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			skin(1)	1		Lung NSC(55;0.0846)|all_lung(88;0.183)				GAAAACCATCAGAACATGATT	0.438													G	66548503	A	G	66548503	3	3	55	1	0	0	0	0	1	0	0	0	16815	188	7	3	1403	3	TYW1	7	66548503	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	11281985	66548503	92590160	685	42033											
ELN	2006	broad.mit.edu	37	chr7	73477988	73477988	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggctcggaggactcggagtCggagggcttggagttccagg	20	8	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:73477988C>T	uc003tzw.2	+	29	2065	c.1974C>T	c.(1972-1974)GTC>GTT	p.V658V	RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Silent_p.V652V|ELN_uc003tzz.2_Silent_p.V571V|ELN_uc003tzo.2_Silent_p.V604V|ELN_uc003tzp.2_Silent_p.V563V|ELN_uc003tzq.2_Silent_p.V516V|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Silent_p.V633V|ELN_uc003tzt.2_Silent_p.V657V|ELN_uc003tzu.2_Silent_p.V638V|ELN_uc003tzv.2_Silent_p.V623V|ELN_uc003tzx.2_Silent_p.V642V|ELN_uc011kff.1_Silent_p.V652V|ELN_uc003tzy.2_Silent_p.V628V	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	714	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GACTCGGAGTCGGAGGGCTTG	0.542			T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome						T	73477988	C	T	73477988	2	4	55	1	0	0	0	0	0	0	0	1	5071	871	31	1		1	ELN	7	73477988	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	6929485	73477988	85660675	686	42034											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73932542	73932542	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagccagggctgctggcCgtgcaggggctgcccgaagg	20	11	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:73932542C>T	uc003uaq.2	+	5	888	c.495C>T	c.(493-495)GCC>GCT	p.A165A	GTF2IRD1_uc010lbq.2_Silent_p.A197A|GTF2IRD1_uc003uap.2_Silent_p.A165A|GTF2IRD1_uc003uar.1_Silent_p.A165A	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	165	GTF2I-like 1.					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						GGCTGCTGGCCGTGCAGGGGC	0.677													T	73932542	C	T	73932542	2	4	55	1	0	0	0	0	0	0	0	1	6868	639	23	1		1	GTF2IRD1	7	73932542	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	454554	73932542	85206121	687	42035											
HIP1	3092	broad.mit.edu	37	chr7	75185376	75185376	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctgcagttctttccgaAgagcagataattcctcctcc	7	13	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:75185376A>G	uc003uds.1	-	18	1822	c.1781T>C	c.(1780-1782)CTT>CCT	p.L594P	HIP1_uc011kfz.1_Missense_Mutation_p.L471P	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	594	Potential.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						TTCTTTCCGAAGAGCAGATAA	0.582			T	PDGFRB	CMML								G	75185376	A	G	75185376	3	3	55	1	0	0	0	0	1	0	0	0	7114	72	3	3	1388	3	HIP1	7	75185376	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1252834	75185376	83953287	688	42036											
GRM3	2913	broad.mit.edu	37	chr7	86415922	86415922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagcccaacgcgcgcgtcGtggtcctcttcatgcgcagc	12	15	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:86415922G>A	uc003uid.2	+	3	1913	c.814G>A	c.(814-816)GTG>ATG	p.V272M	GRM3_uc010lef.2_Missense_Mutation_p.V270M|GRM3_uc010leg.2_Missense_Mutation_p.V144M|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	272	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CGCGCGCGTCGTGGTCCTCTT	0.662													A	86415922	G	A	86415922	3	1	55	1	0	0	0	0	1	0	0	0	6798	1145	40	1	820	1	GRM3	7	86415922	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	11230546	86415922	72722741	689	42037											
DMTF1	9988	broad.mit.edu	37	chr7	86795920	86795920	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatcagttgttgcacttccAcgtaagtcactacgtattaa	6	9	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:86795920A>G	uc003uih.2	+	4	557	c.231A>G	c.(229-231)CCA>CCG	p.P77P	DMTF1_uc003uii.2_5'UTR|DMTF1_uc003uij.2_5'UTR|DMTF1_uc011khb.1_5'UTR|DMTF1_uc003uik.2_Intron|DMTF1_uc003uil.2_Silent_p.P77P|DMTF1_uc003uim.1_Silent_p.P77P|DMTF1_uc003uin.2_5'UTR	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	77	Interaction with CCND2 (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)					TTGCACTTCCACGTAAGTCAC	0.378													G	86795920	A	G	86795920	2	3	55	1	0	0	0	0	0	0	0	1	4592	173	6	3		3	DMTF1	7	86795920	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	379998	86795920	72342743	690	42038											
ABCB4	5244	broad.mit.edu	37	chr7	87046743	87046743	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctaatagcaatagggttAactgccaaccgtagataaat	8	8	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:87046743A>G	uc003uiv.1	-	21	2643	c.2567T>C	c.(2566-2568)TTA>TCA	p.L856S	ABCB4_uc003uiw.1_Missense_Mutation_p.L856S|ABCB4_uc003uix.1_Missense_Mutation_p.L856S	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	856	Helical; (By similarity).|ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CAATAGGGTTAACTGCCAACC	0.383													G	87046743	A	G	87046743	3	3	55	1	0	0	0	0	1	0	0	0	43	372	13	3	1325	3	ABCB4	7	87046743	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	250823	87046743	72091920	691	42039											
HEPACAM2	253012	broad.mit.edu	37	chr7	92837964	92837964	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgttgtaagcacagcacAcatagtccattgtcttctgg	9	9	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:92837964A>G	uc003umm.2	-	4	964	c.941T>C	c.(940-942)GTG>GCG	p.V314A	HEPACAM2_uc003uml.2_Missense_Mutation_p.V302A|HEPACAM2_uc010lff.2_Missense_Mutation_p.V302A|HEPACAM2_uc011khy.1_Missense_Mutation_p.V337A	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 1	314	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5						AGCACAGCACACATAGTCCAT	0.433													G	92837964	A	G	92837964	3	3	55	1	0	0	0	0	1	0	0	0	7053	159	6	3	475	3	HEPACAM2	7	92837964	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	5791221	92837964	66300699	692	42040											
CCDC132	55610	broad.mit.edu	37	chr7	92885827	92885827	+	Frame_Shift_Del	DEL	A	A	-													acatcttcttataggtatctAaaaaagtggcagatttaatc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:92885826_92885826TA>T	uc003umo.3	+	4	431	c.303_303TA>T	c.(301-303)tctfs	p.S101fs	CCDC132_uc003ump.3_Frame_Shift_Del_p.S71fs|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Intron|CCDC132_uc003umn.3_Frame_Shift_Del_p.S101fs	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	101										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TATAGGTATCTAAAAAAGTGG	0.244													-	92885827	A	-	92885827	7	5	55	1	0	1	0	1	0	0	0	0	2767	363	13	0	322	0	CCDC132	7	92885827	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	47863	92885827	66252836	693	42041											
GNG11	2791	broad.mit.edu	37	chr7	93551517	93551517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggaagttgagcagcttcGcaaagaagtgaagttgcaga	13	5	0	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:93551517G>A	uc003und.2	+	1	502	c.68G>A	c.(67-69)CGC>CAC	p.R23H		NM_004126	NP_004117	P61952	GBG11_HUMAN	guanine nucleotide binding protein gamma 11	23					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			kidney(1)	1	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GAGCAGCTTCGCAAAGAAGTG	0.473													A	93551517	G	A	93551517	3	1	55	1	0	0	0	0	1	0	0	0	6524	1087	38	1	70	1	GNG11	7	93551517	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	665690	93551517	65587146	694	42042											
PPP1R9A	55607	broad.mit.edu	37	chr7	94855332	94855332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctgtccttcctggcagCgacatggccattgaagtctt	11	12	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:94855332C>T	uc003unp.2	+	7	2232	c.1950C>T	c.(1948-1950)AGC>AGT	p.S650S	PPP1R9A_uc010lfj.2_Silent_p.S672S|PPP1R9A_uc011kif.1_Silent_p.S650S|PPP1R9A_uc003unq.2_Silent_p.S650S|PPP1R9A_uc011kig.1_Silent_p.S650S	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	650	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTCCTGGCAGCGACATGGCCA	0.478										HNSCC(28;0.073)			T	94855332	C	T	94855332	2	4	55	1	0	0	0	0	0	0	0	1	12378	767	27	1		1	PPP1R9A	7	94855332	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1303815	94855332	64283331	695	42043											
LMTK2	22853	broad.mit.edu	37	chr7	97833426	97833426	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcggcgccttactcccggTtctccatctctcccgccaac	6	20	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:97833426T>C	uc003upd.1	+	13	4704	c.4411T>C	c.(4411-4413)TTC>CTC	p.F1471L		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	1471				Missing (in Ref. 2; BAA83031).	early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TTACTCCCGGTTCTCCATCTC	0.632													C	97833426	T	C	97833426	3	2	55	1	0	0	0	0	1	0	0	0	8859	1725	60	3	4461	3	LMTK2	7	97833426	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	2978094	97833426	61305237	696	42044											
TRRAP	8295	broad.mit.edu	37	chr7	98519451	98519451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgctcggtaagtttggcGgcagtaacaggaagatgctg	16	6	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:98519451G>A	uc003upp.2	+	21	2907	c.2698G>A	c.(2698-2700)GGC>AGC	p.G900S	TRRAP_uc011kis.1_Missense_Mutation_p.G900S|TRRAP_uc003upr.2_Missense_Mutation_p.G592S	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	900					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TAAGTTTGGCGGCAGTAACAG	0.552													A	98519451	G	A	98519451	3	1	55	1	0	0	0	0	1	0	0	0	16598	1116	39	1	2776	1	TRRAP	7	98519451	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	686025	98519451	60619212	697	42045											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99129277	99129277	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taacgaatgtgggaaaggctTtgggaggcgttcccacctgg	15	8	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:99129277T>A	uc003uqv.2	+	7	2049	c.1925T>A	c.(1924-1926)TTT>TAT	p.F642Y	ZKSCAN5_uc010lfx.2_Missense_Mutation_p.F642Y|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.F642Y|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.F569Y|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.F378Y	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	642	C2H2-type 8.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGGAAAGGCTTTGGGAGGCGT	0.517													A	99129277	T	A	99129277	3	1	55	1	0	0	0	0	1	0	0	0	17687	1841	64	5	1947	5	ZKSCAN5	7	99129277	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	609826	99129277	60009386	698	42046											
AP4M1	9179	broad.mit.edu	37	chr7	99702715	99702715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgtggggaagtcagagCtgagaggtgaggagaaagtg	19	2	1	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:99702715C>T	uc003utb.3	+	9	929	c.721C>T	c.(721-723)CTG>TTG	p.L241L	AP4M1_uc011kjg.1_Silent_p.L195L|AP4M1_uc010lgl.1_Silent_p.L241L|AP4M1_uc003utc.3_Silent_p.L248L|AP4M1_uc010lgm.2_Silent_p.L113L|AP4M1_uc003utd.2_Silent_p.L241L|AP4M1_uc011kjh.1_Silent_p.L193L|AP4M1_uc003ute.3_Silent_p.L16L|AP4M1_uc003utf.3_Silent_p.L113L	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	241	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAAGTCAGAGCTGAGAGGTGA	0.532													T	99702715	C	T	99702715	2	4	55	1	0	0	0	0	0	0	0	1	753	796	28	2		2	AP4M1	7	99702715	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	573438	99702715	59435948	699	42047											
TAF6	6878	broad.mit.edu	37	chr7	99710469	99710469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctttgcccttcaggggtcCgtcttcctcctggcctggct	10	16	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:99710469C>T	uc003uti.2	-	6	607	c.526G>A	c.(526-528)GGA>AGA	p.G176R	TAF6_uc003utg.2_Missense_Mutation_p.G98R|TAF6_uc003uth.2_Missense_Mutation_p.G233R|TAF6_uc003utk.2_Missense_Mutation_p.G176R|TAF6_uc011kji.1_Missense_Mutation_p.G213R|TAF6_uc003utj.2_Missense_Mutation_p.G166R|TAF6_uc003utl.2_Missense_Mutation_p.G176R|TAF6_uc003utm.2_Missense_Mutation_p.G176R|TAF6_uc003utn.1_RNA	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	176					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTCAGGGGTCCGTCTTCCTCC	0.617													T	99710469	C	T	99710469	3	4	55	1	0	0	0	0	1	0	0	0	15527	661	23	1	1547	1	TAF6	7	99710469	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	7754	99710469	59428194	700	42048											
ZCWPW1	55063	broad.mit.edu	37	chr7	100017294	100017294	+	Frame_Shift_Del	DEL	T	T	-													cttgttgatttgtgcctttcTttttttctcctgttccctgc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:100017293_100017293CT>C	uc003uut.3	-	3	490	c.242_242AG>G	c.(241-243)agafs	p.R81fs	ZCWPW1_uc011kjq.2_5'Flank|ZCWPW1_uc003uur.3_5'Flank|ZCWPW1_uc003uus.3_5'UTR|ZCWPW1_uc011kjr.2_Frame_Shift_Del_p.R80fs|ZCWPW1_uc003uuu.1_Frame_Shift_Del_p.R80fs|ZCWPW1_uc011kjt.1_Frame_Shift_Del_p.R80fs|ZCWPW1_uc011kju.1_Frame_Shift_Del_p.R80fs	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	81							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTGTGCCTTTCTTTTTTTCTC	0.453													-	100017294	T	-	100017294	7	5	55	1	0	1	0	1	0	0	0	0	17594	1617	56	0	1765	0	ZCWPW1	7	100017294	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	306825	100017294	59121369	701	42049											
GNB2	2783	broad.mit.edu	37	chr7	100276170	100276170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttctcgcgcagcggacgGctgctgctcgctggctacga	14	15	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:100276170G>A	uc003uwb.2	+	9	1122	c.849G>A	c.(847-849)CGG>CGA	p.R283R	GNB2_uc003uwc.2_Silent_p.R239R|GNB2_uc010lhd.2_Silent_p.R239R|GNB2_uc010lhe.2_Silent_p.R239R|GNB2_uc003uwd.2_Silent_p.R183R|GNB2_uc010lhf.2_Silent_p.R183R|GNB2_uc003uwe.2_Silent_p.R283R|GNB2_uc003uwf.2_Silent_p.R183R	NM_005273	NP_005264	P62879	GBB2_HUMAN	guanine nucleotide-binding protein, beta-2	283	WD 6.				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			ovary(2)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				GCAGCGGACGGCTGCTGCTCG	0.632													A	100276170	G	A	100276170	2	1	55	1	0	0	0	0	0	0	0	1	6517	1190	42	2		2	GNB2	7	100276170	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	258876	100276170	58862493	702	42050											
SLC12A9	56996	broad.mit.edu	37	chr7	100453339	100453339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactttcagtcatgatcagcCgcacactggggcccgaggtc	11	14	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:100453339C>T	uc003uwp.2	+	4	470	c.328C>T	c.(328-330)CGC>TGC	p.R110C	SLC12A9_uc003uwo.1_Intron|SLC12A9_uc003uwq.2_Intron|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'UTR|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	110	Cytoplasmic (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					CATGATCAGCCGCACACTGGG	0.373													T	100453339	C	T	100453339	3	4	55	1	0	0	0	0	1	0	0	0	14390	652	23	1	338	1	SLC12A9	7	100453339	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	177169	100453339	58685324	703	42051											
MUC17	140453	broad.mit.edu	37	chr7	100676267	100676267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcagcaccatgccggtgGccagttctgaggctagcacc	12	14	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:100676267G>A	uc003uxp.1	+	3	1623	c.1570G>A	c.(1570-1572)GCC>ACC	p.A524T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	524	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|6.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CATGCCGGTGGCCAGTTCTGA	0.493													A	100676267	G	A	100676267	3	1	55	1	0	0	0	0	1	0	0	0	9974	1203	42	2	1580	2	MUC17	7	100676267	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	222928	100676267	58462396	704	42052											
MUC17	140453	broad.mit.edu	37	chr7	100680055	100680055	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgaccacttctactgaagcCacttcgtctcctacaactgc	6	15	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:100680055C>A	uc003uxp.1	+	3	5411	c.5358C>A	c.(5356-5358)GCC>GCA	p.A1786A	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1786	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|28.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CTACTGAAGCCACTTCGTCTC	0.522													A	100680055	C	A	100680055	2	1	55	1	0	0	0	0	0	0	0	1	9974	581	21	5		5	MUC17	7	100680055	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3788	100680055	58458608	705	42053											
CDHR3	222256	broad.mit.edu	37	chr7	105642034	105642034	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagcattaccactgttagCaaatatttcatgataaatca	4	8	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:105642034C>T	uc003vdl.3	+	7	948	c.840C>T	c.(838-840)AGC>AGT	p.S280S	CDHR3_uc003vdk.2_Intron|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Silent_p.S267S|CDHR3_uc011klt.1_Silent_p.S192S|CDHR3_uc003vdn.2_5'UTR	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	280	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						CCACTGTTAGCAAATATTTCA	0.418													T	105642034	C	T	105642034	2	4	55	1	0	0	0	0	0	0	0	1	3120	709	25	2		2	CDHR3	7	105642034	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	4961979	105642034	53496629	706	42054											
PIK3CG	5294	broad.mit.edu	37	chr7	106523501	106523501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcgagattgtgaaagacGccacgacaattgccaaaatt	9	8	0	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:106523501G>A	uc003vdv.3	+	8	2738	c.2653G>A	c.(2653-2655)GCC>ACC	p.A885T	PIK3CG_uc003vdu.2_Missense_Mutation_p.A885T|PIK3CG_uc003vdw.2_Missense_Mutation_p.A885T	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	885	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						TGTGAAAGACGCCACGACAAT	0.478													A	106523501	G	A	106523501	3	1	55	1	0	0	0	0	1	0	0	0	11916	1087	38	1	2679	1	PIK3CG	7	106523501	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	881467	106523501	52615162	707	42055											
NRCAM	4897	broad.mit.edu	37	chr7	107832251	107832251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtgtaggtcccgctgtcatCgtcactgacatcagctacca	9	14	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:107832251C>T	uc003vfb.2	-	18	2296	c.1825G>A	c.(1825-1827)GAT>AAT	p.D609N	NRCAM_uc003vfc.2_Missense_Mutation_p.D603N|NRCAM_uc011kmk.1_Missense_Mutation_p.D604N|NRCAM_uc003vfd.2_Missense_Mutation_p.D585N|NRCAM_uc003vfe.2_Missense_Mutation_p.D585N	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	609	Ig-like 6.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						CCGCTGTCATCGTCACTGACA	0.502													T	107832251	C	T	107832251	3	4	55	1	0	0	0	0	1	0	0	0	10644	884	31	1	2183	1	NRCAM	7	107832251	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1308750	107832251	51306412	708	42056											
TFEC	22797	broad.mit.edu	37	chr7	115624318	115624318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagccattagacatacatGccattgtgcattgtcatctt	6	11	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:115624318G>A	uc003vhj.1	-	2	362	c.178C>T	c.(178-180)CAT>TAT	p.H60Y	TFEC_uc003vhk.1_Missense_Mutation_p.H60Y|TFEC_uc003vhl.3_Missense_Mutation_p.H60Y|TFEC_uc011kmw.1_Missense_Mutation_p.H150Y	NM_012252	NP_036384	O14948	TFEC_HUMAN	transcription factor EC isoform a	60	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)	1			STAD - Stomach adenocarcinoma(10;0.00878)			AGACATACATGCCATTGTGCA	0.368													A	115624318	G	A	115624318	3	1	55	1	0	0	0	0	1	0	0	0	15799	1319	46	2	893	2	TFEC	7	115624318	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	7792067	115624318	43514345	709	42057											
PTPRZ1	5803	broad.mit.edu	37	chr7	121651647	121651647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaagttacttcagctacCgagagtgataaggtgccctt	9	11	1	2	rs147331896		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:121651647C>T	uc003vjy.2	+	12	2942	c.2547C>T	c.(2545-2547)ACC>ACT	p.T849T	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	849	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						CTTCAGCTACCGAGAGTGATA	0.478													T	121651647	C	T	121651647	2	4	55	1	0	0	0	0	0	0	0	1	12814	639	23	1		1	PTPRZ1	7	121651647	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	6027329	121651647	37487016	710	42058											
IQUB	154865	broad.mit.edu	37	chr7	123101607	123101607	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagaaggcaaataaagctggCaactgtggcaaaagtaaatc	10	6	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:123101607C>A	uc003vkn.2	-	11	2388	c.1811G>T	c.(1810-1812)TGC>TTC	p.C604F	IQUB_uc011kny.1_5'UTR|IQUB_uc003vko.2_Missense_Mutation_p.C604F|IQUB_uc010lkt.2_RNA	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	604										ovary(3)|large_intestine(1)	4						ATAAAGCTGGCAACTGTGGCA	0.373													A	123101607	C	A	123101607	3	1	55	1	0	0	0	0	1	0	0	0	7820	710	25	5	576	5	IQUB	7	123101607	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1449960	123101607	36037056	711	42059											
HYAL4	23553	broad.mit.edu	37	chr7	123516942	123516942	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcataaggaagatgtggaaCgcgcccagttaccttcactt	10	10	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:123516942C>T	uc003vlc.2	+	5	1817	c.1179C>T	c.(1177-1179)AAC>AAT	p.N393N	HYAL4_uc011knz.1_3'UTR	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	393	Extracellular (Potential).				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			skin(1)	1						AGATGTGGAACGCGCCCAGTT	0.507													T	123516942	C	T	123516942	2	4	55	1	0	0	0	0	0	0	0	1	7466	535	19	1		1	HYAL4	7	123516942	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	415335	123516942	35621721	712	42060											
LRRC4	64101	broad.mit.edu	37	chr7	127670553	127670554	+	Frame_Shift_Ins	INS	-	-	G													tactgcacgagcagacggagINSgggcagttctggggcccggc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:127670552_127670553A>AG	uc003vmk.3	-	1	278_279	c.141_142T>CT	c.(139-144)ccctccfs	p.P47fs	SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Frame_Shift_Ins_p.P47fs	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA.	47	LRRNT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GAGCAGACGGAGGGGCAGTTCT	0.644													G	127670554	-	G	127670553	7	5	55	1	0	1	1	0	0	0	0	0	8997	987	35	0	1824	0	LRRC4	7	127670553	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	4153611	127670553	31468110	713	42061											
CALU	813	broad.mit.edu	37	chr7	128399049	128399049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggagttcacagctttcctGcaccctgaggagtatgacta	11	10	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:128399049G>A	uc003vns.2	+	4	692	c.540G>A	c.(538-540)CTG>CTA	p.L180L	CALU_uc003vnq.2_Silent_p.L180L|CALU_uc003vnr.2_Silent_p.L180L	NM_001130674	NP_001124146	O43852	CALU_HUMAN	calumenin isoform b precursor	180	EF-hand 3.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding				0						CAGCTTTCCTGCACCCTGAGG	0.433													A	128399049	G	A	128399049	2	1	55	1	0	0	0	0	0	0	0	1	2594	1306	46	2		2	CALU	7	128399049	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	728496	128399049	30739614	714	42062											
FLNC	2318	broad.mit.edu	37	chr7	128482949	128482949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacaacgacaccttcaccGtcaagtacacgccaccaggg	8	15	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:128482949G>A	uc003vnz.3	+	16	2700	c.2491G>A	c.(2491-2493)GTC>ATC	p.V831I	FLNC_uc003voa.3_Missense_Mutation_p.V831I	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	831	Filamin 6.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CACCTTCACCGTCAAGTACAC	0.592													A	128482949	G	A	128482949	3	1	55	1	0	0	0	0	1	0	0	0	5935	1145	40	1	2553	1	FLNC	7	128482949	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	83900	128482949	30655714	715	42063											
FLNC	2318	broad.mit.edu	37	chr7	128486419	128486419	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagccccttccgagtgggCgtgaccgagggctgtgatcc	15	12	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:128486419C>T	uc003vnz.3	+	23	4238	c.4029C>T	c.(4027-4029)GGC>GGT	p.G1343G	FLNC_uc003voa.3_Silent_p.G1343G	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1343	Filamin 11.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						TCCGAGTGGGCGTGACCGAGG	0.637													T	128486419	C	T	128486419	2	4	55	1	0	0	0	0	0	0	0	1	5935	755	27	1		1	FLNC	7	128486419	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3470	128486419	30652244	716	42064											
TMEM209	84928	broad.mit.edu	37	chr7	129813694	129813694	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgtctgaacaaagtgcTgagaagtaaaagtttttccg	11	5	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:129813694T>C	uc003vpn.2	-	12	1553	c.1430A>G	c.(1429-1431)CAG>CGG	p.Q477R	TMEM209_uc010lmc.1_Missense_Mutation_p.Q435R	NM_032842	NP_116231	Q96SK2	TM209_HUMAN	transmembrane protein 209	477						integral to membrane				ovary(2)|large_intestine(1)	3	Melanoma(18;0.0435)					AACAAAGTGCTGAGAAGTAAA	0.378													C	129813694	T	C	129813694	3	2	55	1	0	0	0	0	1	0	0	0	16131	1580	55	3	271	3	TMEM209	7	129813694	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	1327275	129813694	29324969	717	42065											
CPA5	93979	broad.mit.edu	37	chr7	129986424	129986424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcctggcagcagctttggGccaaatgaatttcacagggt	11	9	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:129986424G>A	uc010lmd.1	+	4	718	c.98G>A	c.(97-99)GGC>GAC	p.G33D	CPA5_uc003vps.2_Missense_Mutation_p.G33D|CPA5_uc003vpt.2_Missense_Mutation_p.G33D|CPA5_uc010lme.1_Missense_Mutation_p.G33D|CPA5_uc003vpu.1_Missense_Mutation_p.G33D	NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5 isoform 1	33					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2	Melanoma(18;0.0435)					GCAGCTTTGGGCCAAATGAAT	0.652													A	129986424	G	A	129986424	3	1	55	1	0	0	0	0	1	0	0	0	3793	1203	42	2	100	2	CPA5	7	129986424	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	172730	129986424	29152239	718	42066											
PODXL	5420	broad.mit.edu	37	chr7	131196153	131196153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacactggatgctggagtcGgtgctgttttgttagatgag	15	5	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:131196153G>A	uc003vqw.3	-	2	398	c.140C>T	c.(139-141)CCG>CTG	p.P47L	PODXL_uc003vqx.3_Missense_Mutation_p.P47L	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	podocalyxin-like isoform 1 precursor	47	Thr-rich.|Extracellular (Potential).				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				breast(2)|pancreas(1)	3	Melanoma(18;0.162)					TGCTGGAGTCGGTGCTGTTTT	0.527													A	131196153	G	A	131196153	3	1	55	1	0	0	0	0	1	0	0	0	12180	1116	39	1	1568	1	PODXL	7	131196153	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1209729	131196153	27942510	719	42067											
CALD1	800	broad.mit.edu	37	chr7	134643002	134643002	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caagcagcaatagtctccaaGattgacagcagactggagca	10	10	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:134643002G>T	uc003vrz.2	+	11	2481	c.2022G>T	c.(2020-2022)AAG>AAT	p.K674N	CALD1_uc003vry.2_Missense_Mutation_p.K419N|CALD1_uc003vsa.2_Missense_Mutation_p.K445N|CALD1_uc003vsb.2_Missense_Mutation_p.K419N|CALD1_uc010lmm.2_Missense_Mutation_p.K444N|CALD1_uc011kpt.1_Missense_Mutation_p.K193N|CALD1_uc003vsc.2_Missense_Mutation_p.K439N|CALD1_uc003vsd.2_Missense_Mutation_p.K413N|CALD1_uc011kpu.1_Missense_Mutation_p.K424N|CALD1_uc011kpv.1_Missense_Mutation_p.K283N|CALD1_uc003vse.2_Missense_Mutation_p.K537N|CALD1_uc010lmn.2_5'Flank	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	674	Strong actin-binding (By similarity).|Tropomyosin-binding (Potential).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						TAGTCTCCAAGATTGACAGCA	0.393													T	134643002	G	T	134643002	3	4	55	1	0	0	0	0	1	0	0	0	2581	933	33	5	2113	5	CALD1	7	134643002	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3446849	134643002	24495661	720	42068											
KIAA1549	57670	broad.mit.edu	37	chr7	138603524	138603524	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcattaaagaccgggagcttAaaaaaagggtggtttccaca	11	7	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:138603524A>T	uc011kql.1	-	2	897	c.848T>A	c.(847-849)TTA>TAA	p.L283*	KIAA1549_uc003vuk.3_Nonsense_Mutation_p.L233*|KIAA1549_uc011kqj.1_Nonsense_Mutation_p.L283*	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	283						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						CCGGGAGCTTAAAAAAAGGGT	0.517			O	BRAF	pilocytic astrocytoma								T	138603524	A	T	138603524	4	4	55	1	0	0	0	0	0	1	0	0	8244	372	13	5	5080	5	KIAA1549	7	138603524	Nonsense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	3960522	138603524	20535139	721	42069											
BRAF	673	broad.mit.edu	37	chr7	140482927	140482927	+	Frame_Shift_Del	DEL	G	G	-													gtgagccaggtaatgaggcaGggggggtagcagacaaacct							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:140482926_140482926AG>A	uc003vwc.4	-	9	1270	c.1209_1209CT>T	c.(1207-1209)cctfs	p.P403fs		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	403					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTAATGAGGCAGGGGGGGTAG	0.428		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				-	140482927	G	-	140482927	7	5	55	1	0	1	0	1	0	0	0	0	1496	1000	35	0	1128	0	BRAF	7	140482927	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	1879403	140482927	18655736	722	42070											
TMEM139	135932	broad.mit.edu	37	chr7	142983605	142983605	+	Frame_Shift_Del	DEL	C	C	-													cccaagagttggaccaaccaCccccctacagcactgttgtg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:142983604_142983604AC>A	uc003wcl.3	+	4	587	c.333_333AC>A	c.(331-333)ccafs	p.P111fs	CASP2_uc003wco.3_5'Flank|CASP2_uc003wcp.3_5'Flank|CASP2_uc011kta.2_5'Flank|TMEM139_uc022aoc.1_Frame_Shift_Del_p.P111fs|TMEM139_uc010lov.3_Frame_Shift_Del_p.P111fs|TMEM139_uc003wck.4_Frame_Shift_Del_p.P111fs|TMEM139_uc003wcn.3_5'UTR|TMEM139_uc022aod.1_5'UTR|TMEM139_uc003wcm.3_Frame_Shift_Del_p.P111fs	NM_001242774	NP_001229703	Q8IV31	TM139_HUMAN	Homo sapiens transmembrane protein 139 (TMEM139), transcript variant 3, mRNA.	111						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					TGGACCAACCACCCCCCTACA	0.572													-	142983605	C	-	142983605	7	5	55	1	0	1	0	1	0	0	0	0	16051	507	18	0	340	0	TMEM139	7	142983605	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	2500678	142983605	16155058	723	42071											
FAM115A	9747	broad.mit.edu	37	chr7	143573697	143573697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaggcagcagagggagtcGccatggctctattggtttct	14	9	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:143573697G>A	uc003wdo.1	-	2	138	c.5C>T	c.(4-6)GCG>GTG	p.A2V	FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Missense_Mutation_p.A2V	NM_014719	NP_055534	Q9Y4C2	F115A_HUMAN	hypothetical protein LOC9747	2											0	Melanoma(164;0.0903)					AGAGGGAGTCGCCATGGCTCT	0.473													A	143573697	G	A	143573697	3	1	55	1	0	0	0	0	1	0	0	0	5405	1087	38	1	2792	1	FAM115A	7	143573697	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	590092	143573697	15564966	724	42072											
OR2A2	442361	broad.mit.edu	37	chr7	143806930	143806930	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagatgttggcaaacctaatGaaccagaaaagaaccatctc	7	9	1	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:143806930G>A	uc011ktz.1	+	1	255	c.255G>A	c.(253-255)ATG>ATA	p.M85I		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	85	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.0783)					CAAACCTAATGAACCAGAAAA	0.428													A	143806930	G	A	143806930	3	1	55	1	0	0	0	0	1	0	0	0	10977	1290	45	4	257	4	OR2A2	7	143806930	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	233233	143806930	15331733	725	42073											
TPK1	27010	broad.mit.edu	37	chr7	144150649	144150649	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaacaggttagcttttgaTggccatggtccagaggagtg	14	7	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:144150649T>C	uc003weq.2	-	9	824	c.721A>G	c.(721-723)ATC>GTC	p.I241V	TPK1_uc003weo.2_Missense_Mutation_p.I187V|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.I192V|TPK1_uc003wes.2_RNA	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1 isoform a	241					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			ovary(2)	2					Thiamine(DB00152)	TAGCTTTTGATGGCCATGGTC	0.478													C	144150649	T	C	144150649	3	2	55	1	0	0	0	0	1	0	0	0	16401	1464	51	3	14	3	TPK1	7	144150649	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	343719	144150649	14988014	726	42074											
CNTNAP2	26047	broad.mit.edu	37	chr7	147092804	147092804	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcaacttgtaaatttataCgaagtggcacaaaggaagcc	9	7	1	0	rs144620232		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:147092804C>T	uc003weu.1	+	10	2118	c.1602C>T	c.(1600-1602)TAC>TAT	p.Y534Y		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	534	Extracellular (Potential).|Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TAAATTTATACGAAGTGGCAC	0.433										HNSCC(39;0.1)			T	147092804	C	T	147092804	2	4	55	1	0	0	0	0	0	0	0	1	3647	547	19	1		1	CNTNAP2	7	147092804	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2942155	147092804	12045859	727	42075											
CUL1	8454	broad.mit.edu	37	chr7	148485686	148485686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacacctctaaacttcagcGcatgtttcaagacattggcg	8	11	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:148485686G>A	uc010lpg.2	+	14	2043	c.1517G>A	c.(1516-1518)CGC>CAC	p.R506H	CUL1_uc003wey.2_Missense_Mutation_p.R506H|CUL1_uc003wez.2_Missense_Mutation_p.R396H|CUL1_uc003wfa.2_Missense_Mutation_p.R167H	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	506					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AAACTTCAGCGCATGTTTCAA	0.418													A	148485686	G	A	148485686	3	1	55	1	0	0	0	0	1	0	0	0	4054	1087	38	1	1567	1	CUL1	7	148485686	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1392882	148485686	10652977	728	42076											
SSPO	23145	broad.mit.edu	37	chr7	149475868	149475868	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgacctctttctgtgcccAgggctgagcctgcaatggct	12	12	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:149475868A>G	uc010lpk.2	+	7	836	c.836_splice	c.e7-2	p.G279_splice	SSPO_uc010lpl.1_Splice_Site	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor						cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTCTGTGCCCAGGGCTGAGCC	0.622													G	149475868	A	G	149475868	5	3	55	1	0	0	0	0	0	0	1	0	15188	202	7	3	860	3	SSPO	7	149475868	Splice_Site	SNP	A	TCGA-BR-7851-01A-11D-2201-08	990182	149475868	9662795	729	42077											
SSPO	23145	broad.mit.edu	37	chr7	149515744	149515744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaatccctcccccaggtgGctggggcccatggtcctcct	10	19	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:149515744G>A	uc010lpk.2	+	84	11645	c.11645G>A	c.(11644-11646)GGC>GAC	p.G3882D		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3882	TSP type-1 16.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCCCAGGTGGCTGGGGCCCA	0.701													A	149515744	G	A	149515744	3	1	55	1	0	0	0	0	1	0	0	0	15188	1203	42	2	11969	2	SSPO	7	149515744	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	39876	149515744	9622919	730	42078											
KCNH2	3757	broad.mit.edu	37	chr7	150648197	150648197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgttgccgaagatgctagCatacatgagggctgggggcg	16	9	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:150648197C>T	uc003wic.2	-	8	1970	c.1957G>A	c.(1957-1959)GCT>ACT	p.A653T	KCNH2_uc003wib.2_Missense_Mutation_p.A313T|KCNH2_uc011kux.1_Missense_Mutation_p.A557T|KCNH2_uc003wid.2_Missense_Mutation_p.A313T|KCNH2_uc003wie.2_Missense_Mutation_p.A653T	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	653	Helical; Name=Segment S6; (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AAGATGCTAGCATACATGAGG	0.667													T	150648197	C	T	150648197	3	4	55	1	0	0	0	0	1	0	0	0	8032	710	25	2	1823	2	KCNH2	7	150648197	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1132453	150648197	8490466	731	42079											
ABCB8	11194	broad.mit.edu	37	chr7	150733214	150733214	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcagaggagctgggccgCggcatcgccttgttccaagg	17	12	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:150733214C>T	uc003wil.3	+	9	1212	c.1119C>T	c.(1117-1119)CGC>CGT	p.R373R	ABCB8_uc003wii.2_Silent_p.R393R|ABCB8_uc003wij.3_Silent_p.R356R|ABCB8_uc010lpw.1_Missense_Mutation_p.R257W|ABCB8_uc010lpx.2_Silent_p.R356R|ABCB8_uc011kvd.1_Silent_p.R268R|ABCB8_uc003wim.3_Silent_p.R151R|ABCB8_uc003wik.3_Silent_p.R356R	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	373	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCTGGGCCGCGGCATCGCCT	0.657													T	150733214	C	T	150733214	2	4	55	1	0	0	0	0	0	0	0	1	47	755	27	1		1	ABCB8	7	150733214	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	85017	150733214	8405449	732	42080											
NUB1	51667	broad.mit.edu	37	chr7	151052933	151052933	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaacaatctgaagaggacgcGaggaaaaacttccagttaga	10	7	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:151052933G>A	uc003wjx.2	+	6	572	c.567G>A	c.(565-567)GCG>GCA	p.A189A	NUB1_uc003wjv.2_RNA|NUB1_uc003wjw.2_Silent_p.A165A|NUB1_uc010lqb.2_RNA|NUB1_uc003wjy.2_RNA|NUB1_uc011kvj.1_Intron|NUB1_uc010lqc.2_RNA	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	165	Potential.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		AAGAGGACGCGAGGAAAAACT	0.423													A	151052933	G	A	151052933	2	1	55	1	0	0	0	0	0	0	0	1	10714	1045	37	1		1	NUB1	7	151052933	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	319719	151052933	8085730	733	42081											
WDR86	349136	broad.mit.edu	37	chr7	151093119	151093119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggccgcggcctcctccgCgcagggagtgctggggaggt	18	15	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:151093119C>T	uc003wkb.2	-	3	918	c.469G>A	c.(469-471)GCG>ACG	p.A157T	WDR86_uc003wka.2_Missense_Mutation_p.A115T|WDR86_uc011kvk.1_Missense_Mutation_p.A157T|WDR86_uc003wkc.2_Missense_Mutation_p.A29T	NM_198285	NP_938026	Q86TI4	WDR86_HUMAN	WD repeat domain 86	157	WD 4.										0			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCTCCTCCGCGCAGGGAGTG	0.706													T	151093119	C	T	151093119	3	4	55	1	0	0	0	0	1	0	0	0	17331	768	27	1	677	1	WDR86	7	151093119	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	40186	151093119	8045544	734	42082											
GALNT11	63917	broad.mit.edu	37	chr7	151791456	151791456	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaggggtctgggccccaCggaccatctccaaaaaaatt	10	12	3	0	rs150180913	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:151791456C>T	uc010lqg.1	+	2	374	c.144C>T	c.(142-144)CAC>CAT	p.H48H	GALNT11_uc011kvm.1_Intron|GALNT11_uc003wku.2_Silent_p.H48H|GALNT11_uc003wkv.1_Silent_p.H48H|GALNT11_uc011kvn.1_RNA	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	48	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CTGGGCCCCACGGACCATCTC	0.468													T	151791456	C	T	151791456	2	4	55	1	0	0	0	0	0	0	0	1	6209	535	19	1		1	GALNT11	7	151791456	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	698337	151791456	7347207	735	42083											
MLL3	58508	broad.mit.edu	37	chr7	151836879	151836879	+	Splice_Site	DEL	A	A	-													agcatacaggcccagcccctAaaaaaaagtgtgtacatact							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:151836878_151836878TA>T	uc003wla.3	-	56	14563	c.14344_splice	c.e56-1	p.G4782_splice	MLL3_uc003wkz.3_Splice_Site_p.G3896_splice|MLL3_uc003wkx.3_Splice_Site_p.G940_splice|MLL3_uc003wky.3_Splice_Site_p.G2342_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4782	SET.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCCCAGCCCCTAAAAAAAAGT	0.413			N		medulloblastoma								-	151836879	A	-	151836879	8	5	55	1	0	1	0	1	0	0	1	0	9622	377	13	0		0	MLL3	7	151836879	Splice_Site	DEL	A	TCGA-BR-7851-01A-11D-2201-08	45423	151836879	7301784	736	42084											
HTR5A	3361	broad.mit.edu	37	chr7	154863133	154863133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgctgtcatctctctggCcccgctgctttttggctggg	11	15	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:154863133C>T	uc003wlu.1	+	1	588	c.524C>T	c.(523-525)GCC>GTC	p.A175V	uc011kvt.1_5'UTR|uc003wlt.2_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	175	Helical; Name=4; (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		ATCTCTCTGGCCCCGCTGCTT	0.632													T	154863133	C	T	154863133	3	4	55	1	0	0	0	0	1	0	0	0	7450	739	26	2	526	2	HTR5A	7	154863133	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3026254	154863133	4275530	737	42085											
HTR5A	3361	broad.mit.edu	37	chr7	154863297	154863297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacaaggctgccaagttcCgcgtgggctccaggaagacc	12	13	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:154863297C>T	uc003wlu.1	+	1	752	c.688C>T	c.(688-690)CGC>TGC	p.R230C	uc011kvt.1_5'Flank|uc003wlt.2_5'Flank	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	230	Cytoplasmic (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TGCCAAGTTCCGCGTGGGCTC	0.542													T	154863297	C	T	154863297	3	4	55	1	0	0	0	0	1	0	0	0	7450	652	23	1	690	1	HTR5A	7	154863297	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	164	154863297	4275366	738	42086											
NOM1	64434	broad.mit.edu	37	chr7	156743110	156743110	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggagccctggagtctgggAaaaatagcggcttgtacgac	15	8	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:156743110A>G	uc003wmy.2	+	1	694	c.679A>G	c.(679-681)AAA>GAA	p.K227E		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	227	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GGAGTCTGGGAAAAATAGCGG	0.522													G	156743110	A	G	156743110	3	3	55	1	0	0	0	0	1	0	0	0	10530	247	9	3	681	3	NOM1	7	156743110	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1879813	156743110	2395553	739	42087											
DLGAP2	9228	broad.mit.edu	37	chr8	1645408	1645408	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtcagcatgaagttcgaCgagctgcagcggctgcggct	15	11	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:1645408C>T	uc003wpl.2	+	11	2749	c.2652C>T	c.(2650-2652)GAC>GAT	p.D884D	DLGAP2_uc003wpm.2_Silent_p.D870D	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	963					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGAAGTTCGACGAGCTGCAGC	0.632													T	1645408	C	T	1645408	2	4	55	1	0	0	0	0	0	0	0	1	4560	535	19	1		1	DLGAP2	8	1645408	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08		1645408	144718614	740	42088											
ARHGEF10	9639	broad.mit.edu	37	chr8	1808263	1808263	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttggtgcctgtaccctgcGgctatgcggtgccctccaac	11	15	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:1808263G>T	uc003wpr.2	+	4	572	c.394G>T	c.(394-396)GGC>TGC	p.G132C	ARHGEF10_uc003wpq.1_Missense_Mutation_p.G156C|ARHGEF10_uc003wps.2_Missense_Mutation_p.G132C|ARHGEF10_uc003wpt.2_Missense_Mutation_p.G46C|ARHGEF10_uc010lrd.1_Missense_Mutation_p.G46C|ARHGEF10_uc003wpu.2_Missense_Mutation_p.G46C	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	156					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGTACCCTGCGGCTATGCGGT	0.662													T	1808263	G	T	1808263	3	4	55	1	0	0	0	0	1	0	0	0	894	1116	39	5	404	5	ARHGEF10	8	1808263	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	162855	1808263	144555759	741	42089											
TNKS	8658	broad.mit.edu	37	chr8	9609231	9609231	+	Frame_Shift_Del	DEL	C	C	-													tctgatctcaccagcatccaCcccctcctgcctctcggctg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:9609230_9609230AC>A	uc003wss.3	+	18	2949	c.2944_2944AC>A	c.(2944-2946)accfs	p.T982fs	TNKS_uc011kww.2_Frame_Shift_Del_p.T745fs|TNKS_uc010lrt.1_Non-coding_Transcript	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	982					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ACCAGCATCCACCCCCTCCTG	0.582													-	9609231	C	-	9609231	7	5	55	1	0	1	0	1	0	0	0	0	16316	507	18	0	3019	0	TNKS	8	9609231	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	7800968	9609231	136754791	742	42090											
RP1L1	94137	broad.mit.edu	37	chr8	10467651	10467651	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagtttcctctaactgcacCgcctcttcttgcagcccttc	5	16	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:10467651C>T	uc003wtc.2	-	4	4186	c.3957G>A	c.(3955-3957)GCG>GCA	p.A1319A		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1319					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		ctaactgcaccgcctcttctt	0.144													T	10467651	C	T	10467651	2	4	55	1	0	0	0	0	0	0	0	1	13533	639	23	1		1	RP1L1	8	10467651	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	858420	10467651	135896371	743	42091											
XKR6	286046	broad.mit.edu	37	chr8	11058405	11058405	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtagtagtcgagggccagCcacaggtcggtgcccacgtc	15	13	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:11058405C>T	uc003wtk.1	-	1	471	c.444G>A	c.(442-444)TGG>TGA	p.W148*		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	148	Helical; (Potential).					integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CGAGGGCCAGCCACAGGTCGG	0.597													T	11058405	C	T	11058405	4	4	55	1	0	0	0	0	0	1	0	0	17432	740	26	2	1493	2	XKR6	8	11058405	Nonsense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	590754	11058405	135305617	744	42092											
DLC1	10395	broad.mit.edu	37	chr8	12946207	12946207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcctcagagggggtccttCgctcacctggaaagaggatg	14	10	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:12946207C>T	uc003wwm.2	-	16	4525	c.4081G>A	c.(4081-4083)GAA>AAA	p.E1361K	DLC1_uc003wwk.1_Missense_Mutation_p.E924K|DLC1_uc003wwl.1_Missense_Mutation_p.E958K|DLC1_uc011kxx.1_Missense_Mutation_p.E850K	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1361	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GGGGGTCCTTCGCTCACCTGG	0.443													T	12946207	C	T	12946207	3	4	55	1	0	0	0	0	1	0	0	0	4550	893	31	1	517	1	DLC1	8	12946207	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1887802	12946207	133417815	745	42093											
LPL	4023	broad.mit.edu	37	chr8	19811791	19811791	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcatgttgacatttacccGaatggaggtacttttcagcc	11	9	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:19811791G>A	uc003wzk.3	+	5	1072	c.702G>A	c.(700-702)CCG>CCA	p.P234P		NM_000237	NP_000228	P06858	LIPL_HUMAN	lipoprotein lipase precursor	234			P -> L (in LPL deficiency; loss of activity).		fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	ACATTTACCCGAATGGAGGTA	0.438													A	19811791	G	A	19811791	2	1	55	1	0	0	0	0	0	0	0	1	8921	1045	37	1		1	LPL	8	19811791	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	6865584	19811791	126552231	746	42094											
LOXL2	4017	broad.mit.edu	37	chr8	23155616	23155616	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgctcaaactttttttccgtCtcttcgctgaaggaaccacc	6	13	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:23155616C>T	uc003xdh.1	-	14	2604	c.2265G>A	c.(2263-2265)GAG>GAA	p.E755E	LOXL2_uc010lty.1_Missense_Mutation_p.R257K	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	755					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TTTTTTCCGTCTCTTCGCTGA	0.557													T	23155616	C	T	23155616	2	4	55	1	0	0	0	0	0	0	0	1	8900	912	32	4		4	LOXL2	8	23155616	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3343825	23155616	123208406	747	42095											
NEFL	4747	broad.mit.edu	37	chr8	24811732	24811732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatatccaaagccatcttcaCgttgaggaggtcttggtatt	9	8	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:24811732C>T	uc003xee.2	-	2	1234	c.1132G>A	c.(1132-1134)GTG>ATG	p.V378M		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	378	Rod.|Coil 2B.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCCATCTTCACGTTGAGGAGG	0.398													T	24811732	C	T	24811732	3	4	55	1	0	0	0	0	1	0	0	0	10315	536	19	1	512	1	NEFL	8	24811732	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1656116	24811732	121552290	748	42096											
EBF2	64641	broad.mit.edu	37	chr8	25890600	25890600	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatcactttttccccctaCctgtcaattatgactgggtc	5	12	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:25890600C>T	uc003xes.1	-	6	568	c.551_splice	c.e6+1	p.R184_splice	PPP2R2A_uc003xek.2_Intron|EBF2_uc003xet.1_Silent_p.R184R	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTTCCCCCTACCTGTCAATTA	0.428													T	25890600	C	T	25890600	5	4	55	1	0	0	0	0	0	0	1	0	4881	521	18	4	1219	4	EBF2	8	25890600	Splice_Site	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1078868	25890600	120473422	749	42097											
PNMA2	10687	broad.mit.edu	37	chr8	26365784	26365784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagaatactcgcagtttcCggtatctcatgggtagcagg	12	9	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:26365784C>T	uc003xez.2	-	3	1258	c.488G>A	c.(487-489)CGG>CAG	p.R163Q		NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN	paraneoplastic antigen MA2	163					apoptosis	nucleolus	protein binding				0		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		tcgcagtttccggtatctcat	0													T	26365784	C	T	26365784	3	4	55	1	0	0	0	0	1	0	0	0	12154	652	23	1	610	1	PNMA2	8	26365784	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	475184	26365784	119998238	750	42098											
ADRA1A	148	broad.mit.edu	37	chr8	26721683	26721683	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccagcgttttggccgctttCttctcccgggagaacttgag	11	13	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:26721683C>A	uc003xfh.1	-	1	1240	c.804G>T	c.(802-804)AAG>AAT	p.K268N	ADRA1A_uc003xfc.1_Missense_Mutation_p.K268N|ADRA1A_uc010lul.1_Missense_Mutation_p.K268N|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.K268N|ADRA1A_uc010lum.1_Missense_Mutation_p.K268N|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.K268N	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	268	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TGGCCGCTTTCTTCTCCCGGG	0.582													A	26721683	C	A	26721683	3	1	55	1	0	0	0	0	1	0	0	0	334	912	32	5	895	5	ADRA1A	8	26721683	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	355899	26721683	119642339	751	42099											
ELP3	55140	broad.mit.edu	37	chr8	27965470	27965470	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attctgattttgagtattccAcccagtcttacactggctat	6	10	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:27965470A>G	uc003xgo.3	+	5	518	c.370A>G	c.(370-372)ACC>GCC	p.T124A	ELP3_uc003xgn.3_Missense_Mutation_p.T109A|ELP3_uc011laq.1_Missense_Mutation_p.T52A|ELP3_uc011lar.1_Missense_Mutation_p.T32A|ELP3_uc011las.1_Intron|ELP3_uc011lat.1_Intron	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	elongation protein 3 homolog	124					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding				0		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TGAGTATTCCACCCAGTCTTA	0.423													G	27965470	A	G	27965470	3	3	55	1	0	0	0	0	1	0	0	0	5081	159	6	3	388	3	ELP3	8	27965470	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1243787	27965470	118398552	752	42100											
FZD3	7976	broad.mit.edu	37	chr8	28385159	28385159	+	Frame_Shift_Del	DEL	T	T	-													atgctttttatgatactctaTttttttactatggctggcag							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:28385158_28385158AT>A	uc003xgx.3	+	4	1410	c.881_881AT>A	c.(880-882)tatfs	p.Y294fs	FZD3_uc010lvb.3_Frame_Shift_Del_p.Y294fs	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN	Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.	294					G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		ATGATACTCTATTTTTTTACT	0.418													-	28385159	T	-	28385159	7	5	55	1	0	1	0	1	0	0	0	0	6131	1500	52	0	892	0	FZD3	8	28385159	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	419689	28385159	117978863	753	42101											
INTS9	55756	broad.mit.edu	37	chr8	28707759	28707759	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaagcatttccatccttcaGggaccagccaggaagattgg	11	10	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:28707759G>T	uc003xha.2	-	3	468	c.169C>A	c.(169-171)CTG>ATG	p.L57M	INTS9_uc011lav.1_Missense_Mutation_p.L33M|INTS9_uc011law.1_Missense_Mutation_p.L57M|INTS9_uc011lax.1_Translation_Start_Site|INTS9_uc010lvc.2_RNA|INTS9_uc003xhb.2_Missense_Mutation_p.L57M	NM_018250	NP_060720	Q9NV88	INT9_HUMAN	integrator complex subunit 9 isoform 1	57					snRNA processing	integrator complex	protein binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CCATCCTTCAGGGACCAGCCA	0.393													T	28707759	G	T	28707759	3	4	55	1	0	0	0	0	1	0	0	0	7785	991	35	5	1867	5	INTS9	8	28707759	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	322600	28707759	117656263	754	42102											
TEX15	56154	broad.mit.edu	37	chr8	30702947	30702947	+	Frame_Shift_Del	DEL	A	A	-													catatttactagtgctagatAaaaatgctgtatcaatttga							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:30702947delA	uc003xil.2	-	1	3587	c.3587delT	c.(3586-3588)TTAfs	p.L1196fs		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1196										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGTGCTAGATAAAAATGCTGT	0.318													-	30702947	A	-	30702947	7	5	55	1	0	1	0	1	0	0	0	0	15776	372	13	0	4798	0	TEX15	8	30702947	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	1995188	30702947	115661075	755	42103											
TEX15	56154	broad.mit.edu	37	chr8	30703130	30703130	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtggaggatacaggcaacTgtgattcaggatgttcttga	13	5	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:30703130T>C	uc003xil.2	-	1	3404	c.3404A>G	c.(3403-3405)CAG>CGG	p.Q1135R		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1135	Ser-rich.									ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TACAGGCAACTGTGATTCAGG	0.403													C	30703130	T	C	30703130	3	2	55	1	0	0	0	0	1	0	0	0	15776	1580	55	3	4981	3	TEX15	8	30703130	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	183	30703130	115660892	756	42104											
KCNU1	157855	broad.mit.edu	37	chr8	36768479	36768479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttattctggagacctccatgCggccaacatagagcaatgct	9	11	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:36768479C>T	uc010lvw.2	+	22	2450	c.2363C>T	c.(2362-2364)GCG>GTG	p.A788V	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	788	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GACCTCCATGCGGCCAACATA	0.522													T	36768479	C	T	36768479	3	4	55	1	0	0	0	0	1	0	0	0	8093	768	27	1	2449	1	KCNU1	8	36768479	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	6065349	36768479	109595543	757	42105											
ASH2L	9070	broad.mit.edu	37	chr8	37986395	37986395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctatggacagggagacGtcctgggattttatattaat	12	6	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:37986395G>A	uc003xkt.3	+	12	1511	c.1453G>A	c.(1453-1455)GTC>ATC	p.V485I	ASH2L_uc011lbk.1_Missense_Mutation_p.V346I|ASH2L_uc003xku.3_Missense_Mutation_p.V391I|ASH2L_uc010lwa.2_Missense_Mutation_p.V391I	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	ash2-like isoform a	485	B30.2/SPRY.				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				ACAGGGAGACGTCCTGGGATT	0.443													A	37986395	G	A	37986395	3	1	55	1	0	0	0	0	1	0	0	0	1042	1145	40	1	1499	1	ASH2L	8	37986395	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1217916	37986395	108377627	758	42106											
LETM2	137994	broad.mit.edu	37	chr8	38257862	38257862	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagaaaccatgacagaaAtggcaaggaggaacagagcc	11	8	1	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:38257862A>T	uc003xlm.1	+	5	748	c.577A>T	c.(577-579)ATG>TTG	p.M193L	LETM2_uc011lbn.1_Missense_Mutation_p.M37L|LETM2_uc003xll.1_Missense_Mutation_p.M145L|LETM2_uc003xln.1_Missense_Mutation_p.M37L|LETM2_uc003xlo.1_Missense_Mutation_p.M37L	NM_144652	NP_653253	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane	240	LETM1.|Mitochondrial matrix (Potential).					integral to membrane|mitochondrial inner membrane					0	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CATGACAGAAATGGCAAGGAG	0.408													T	38257862	A	T	38257862	3	4	55	1	0	0	0	0	1	0	0	0	8735	101	4	5	439	5	LETM2	8	38257862	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	271467	38257862	108106160	759	42107											
FGFR1	2260	broad.mit.edu	37	chr8	38271463	38271463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcaaggccacgatgcgGtccaggtcttccaccagctg	13	13	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:38271463G>A	uc003xlp.2	-	18	3207	c.2265C>T	c.(2263-2265)GAC>GAT	p.D755D	FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Silent_p.D753D|FGFR1_uc011lbp.1_Silent_p.D666D|FGFR1_uc011lbq.1_Silent_p.D664D|FGFR1_uc010lwk.2_Silent_p.D745D	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	755	Cytoplasmic (Potential).|Protein kinase.			D->V: Abolishes interaction with PLCG1.	axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CCACGATGCGGTCCAGGTCTT	0.632		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						A	38271463	G	A	38271463	2	1	55	1	0	0	0	0	0	0	0	1	5863	1252	44	4		4	FGFR1	8	38271463	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	13601	38271463	108092559	760	42108											
TACC1	6867	broad.mit.edu	37	chr8	38684796	38684796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagaaatcagctggtgcCgaggtgaaaggtgagccaga	16	7	2	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:38684796C>T	uc010lwp.2	+	5	1942	c.1563C>T	c.(1561-1563)GCC>GCT	p.A521A	TACC1_uc011lby.1_Silent_p.A326A|TACC1_uc003xma.2_5'UTR|TACC1_uc003xlz.2_Silent_p.A326A|TACC1_uc003xmc.3_Silent_p.A325A|TACC1_uc011lbz.1_Silent_p.A537A|TACC1_uc003xmb.3_Silent_p.A476A|TACC1_uc003xme.1_Silent_p.A95A|TACC1_uc003xmd.1_Silent_p.A83A|TACC1_uc010lwo.1_Silent_p.A83A|TACC1_uc003xmf.3_Silent_p.A111A|TACC1_uc011lca.1_Silent_p.A533A|TACC1_uc011lcb.1_Silent_p.A326A|TACC1_uc011lcc.1_Silent_p.A326A|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Silent_p.A338A|TACC1_uc010lwq.2_Silent_p.A338A	NM_006283	NP_006274	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing	521					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			ovary(1)	1		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CAGCTGGTGCCGAGGTGAAAG	0.468													T	38684796	C	T	38684796	2	4	55	1	0	0	0	0	0	0	0	1	15498	639	23	1		1	TACC1	8	38684796	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	413333	38684796	107679226	761	42109											
ANK1	286	broad.mit.edu	37	chr8	41573253	41573253	+	Frame_Shift_Del	DEL	G	G	-													ctcacgggctgcaatgtgcaGgggggtgtgcccggcggtgg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:41573252_41573252AG>A	uc003xok.3	-	13	1604	c.1520_1520CT>T	c.(1519-1521)ctgfs	p.L507fs	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Frame_Shift_Del_p.L507fs|ANK1_uc003xoj.3_Frame_Shift_Del_p.L507fs|ANK1_uc003xol.3_Frame_Shift_Del_p.L507fs|ANK1_uc003xom.3_Frame_Shift_Del_p.L540fs	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	507	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGCAATGTGCAGGGGGGTGTG	0.612													-	41573253	G	-	41573253	7	5	55	1	0	1	0	1	0	0	0	0	620	991	35	0	4596	0	ANK1	8	41573253	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	2888457	41573253	104790769	762	42110											
SLC20A2	6575	broad.mit.edu	37	chr8	42302235	42302235	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaacaggagggcgacaccaAaggaaatgagggctatggcc	15	9	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:42302235A>G	uc010lxl.2	-	6	1353	c.659T>C	c.(658-660)TTT>TCT	p.F220S	SLC20A2_uc010lxm.2_Missense_Mutation_p.F220S|SLC20A2_uc003xpe.2_Missense_Mutation_p.F220S|SLC20A2_uc011lcu.1_Missense_Mutation_p.F22S	NM_006749	NP_006740	Q08357	S20A2_HUMAN	solute carrier family 20, member 2	220	Helical; (Potential).				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(2)	2	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGCGACACCAAAGGAAATGAG	0.493													G	42302235	A	G	42302235	3	3	55	1	0	0	0	0	1	0	0	0	14439	14	1	3	1323	3	SLC20A2	8	42302235	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	728982	42302235	104061787	763	42111											
CHRNB3	1142	broad.mit.edu	37	chr8	42587314	42587314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgaagaaatcatcccatcGtcttccaaagtcattcctct	4	12	4	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:42587314G>A	uc003xpi.1	+	5	992	c.864G>A	c.(862-864)TCG>TCA	p.S288S		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	288					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TCATCCCATCGTCTTCCAAAG	0.398													A	42587314	G	A	42587314	2	1	55	1	0	0	0	0	0	0	0	1	3392	1132	40	1		1	CHRNB3	8	42587314	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	285079	42587314	103776708	764	42112											
RNF170	81790	broad.mit.edu	37	chr8	42725159	42725159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttaccacaaaaaagatGtccacagttggtctccaccg	7	12	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:42725159G>A	uc003xpo.2	-	4	787	c.310C>T	c.(310-312)CAT>TAT	p.H104Y	RNF170_uc011lcx.1_Missense_Mutation_p.H104Y|RNF170_uc010lxp.2_Missense_Mutation_p.H20Y|RNF170_uc003xpm.2_Missense_Mutation_p.H104Y|RNF170_uc003xpp.2_Silent_p.D32D|RNF170_uc003xpn.2_Silent_p.D32D|RNF170_uc003xpq.3_Missense_Mutation_p.H104Y	NM_001160223	NP_001153695	Q96K19	RN170_HUMAN	ring finger protein 170 isoform a	104	RING-type.					integral to membrane	zinc ion binding				0	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CAAAAAAGATGTCCACAGTTG	0.478													A	42725159	G	A	42725159	3	1	55	1	0	0	0	0	1	0	0	0	13462	1377	48	4	693	4	RNF170	8	42725159	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	137845	42725159	103638863	765	42113											
FNTA	2339	broad.mit.edu	37	chr8	42940419	42940419	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactcaccaacaaatgtacaGcaataacaccatccagaaga	5	12	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:42940419G>T	uc003xps.2	+	9	1182	c.1134G>T	c.(1132-1134)CAG>CAT	p.Q378H	FNTA_uc003xpt.2_Missense_Mutation_p.Q287H|FNTA_uc003xpu.2_Missense_Mutation_p.Q311H|FNTA_uc003xpv.2_RNA	NM_002027	NP_002018	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha isoform a	378					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			ovary(1)	1	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CAAATGTACAGCAATAACACC	0.403													T	42940419	G	T	42940419	3	4	55	1	0	0	0	0	1	0	0	0	5977	962	34	5	1168	5	FNTA	8	42940419	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	215260	42940419	103423603	766	42114											
TOX	9760	broad.mit.edu	37	chr8	59750825	59750825	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttctttttgggagtttttgGttttttccccatatcagagg	9	7	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:59750825G>T	uc003xtw.1	-	5	960	c.739C>A	c.(739-741)CCA>ACA	p.P247T		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	247	Nuclear localization signal (Potential).					nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GGAGTTTTTGGTTTTTTCCCC	0.453													T	59750825	G	T	59750825	3	4	55	1	0	0	0	0	1	0	0	0	16374	1261	44	5	861	5	TOX	8	59750825	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	16810406	59750825	86613197	767	42115											
BHLHE22	27319	broad.mit.edu	37	chr8	65494257	65494257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggccctggaggagatgCggcgcctagtcgcctacctc	14	15	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:65494257C>T	uc003xvi.2	+	1	1444	c.910C>T	c.(910-912)CGG>TGG	p.R304W	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						GGAGGAGATGCGGCGCCTAGT	0.687													T	65494257	C	T	65494257	3	4	55	1	0	0	0	0	1	0	0	0	1421	759	27	1	912	1	BHLHE22	8	65494257	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	5743432	65494257	80869765	768	42116											
RRS1	23212	broad.mit.edu	37	chr8	67342429	67342429	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttgggtggcaagagaaaaGgaggacagcgcccaggagga	18	7	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:67342429G>T	uc003xwa.2	+	1	1167	c.1063G>T	c.(1063-1065)GGA>TGA	p.G355*	ADHFE1_uc003xwb.3_5'Flank|ADHFE1_uc003xwd.3_5'Flank|ADHFE1_uc003xwc.3_5'Flank|ADHFE1_uc003xwe.3_5'Flank|ADHFE1_uc003xwf.3_5'Flank|ADHFE1_uc011les.1_5'Flank|ADHFE1_uc011leq.1_5'Flank|ADHFE1_uc011ler.1_5'Flank	NM_015169	NP_055984	Q15050	RRS1_HUMAN	homolog of yeast ribosome biogenesis regulatory	355	Arg/Gly/Lys-rich.				mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus					0		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CAAGAGAAAAGGAGGACAGCG	0.537													T	67342429	G	T	67342429	4	4	55	1	0	0	0	0	0	1	0	0	13692	1001	35	5	1065	5	RRS1	8	67342429	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1848172	67342429	79021593	769	42117											
SGK3	23678	broad.mit.edu	37	chr8	67716612	67716612	+	Frame_Shift_Del	DEL	A	A	-													tatttttaaaaattttagttAaaaaaacagtttcctgctat							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:67716612delA	uc003xwr.2	+	4	482	c.183delA	c.(181-183)TTAfs	p.L61fs	SGK3_uc003xwp.2_Frame_Shift_Del_p.L55fs|SGK3_uc003xwt.2_Frame_Shift_Del_p.L61fs|SGK3_uc003xwu.2_Frame_Shift_Del_p.L61fs	NM_001033578	NP_001028750	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase 3 isoform	61	PX.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			ovary(1)|large_intestine(1)|lung(1)|breast(1)	4	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			aattttagttaaaaaaaCAGT	0.279													-	67716612	A	-	67716612	7	5	55	1	0	1	0	1	0	0	0	0	14212	359	13	0	193	0	SGK3	8	67716612	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	374183	67716612	78647410	770	42118											
PREX2	80243	broad.mit.edu	37	chr8	68965390	68965390	+	Frame_Shift_Del	DEL	A	A	-													tggaagatacataacacagcAaaaaataaatggtttgtttg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:68965390delA	uc003xxv.1	+	9	1029	c.1002delA	c.(1000-1002)GCAfs	p.A334fs	PREX2_uc003xxu.1_Frame_Shift_Del_p.A334fs|PREX2_uc011lez.1_Frame_Shift_Del_p.A269fs	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	334	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						ATAACACAGCAAAAAATAAAT	0.358													-	68965390	A	-	68965390	7	5	55	1	0	1	0	1	0	0	0	0	12477	117	5	0	1036	0	PREX2	8	68965390	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	1248778	68965390	77398632	771	42119											
NCOA2	10499	broad.mit.edu	37	chr8	71069388	71069388	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccactgcacagggcctgatgGgcagggctgttagagctaat	14	10	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:71069388G>T	uc003xyn.1	-	11	1374	c.1212C>A	c.(1210-1212)GCC>GCA	p.A404A		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	404					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GGGCCTGATGGGCAGGGCTGT	0.493			T	RUNXBP2	AML								T	71069388	G	T	71069388	2	4	55	1	0	0	0	0	0	0	0	1	10229	1219	43	5		5	NCOA2	8	71069388	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2103998	71069388	75294634	772	42120											
EYA1	2138	broad.mit.edu	37	chr8	72123392	72123392	+	Splice_Site	DEL	T	T	-													accatctaggaatgctcaccTtttttgctccttgttcttct							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:72123391_72123391CT>C	uc003xyu.3	-	17	2338	c.1698_splice	c.e17+1	p.K566_splice	EYA1_uc003xyt.4_Splice_Site_p.K533_splice|EYA1_uc003xyr.4_Splice_Site_p.K531_splice|EYA1_uc010lzf.3_Splice_Site_p.K493_splice|EYA1_uc003xys.4_Splice_Site_p.K566_splice|EYA1_uc011lfe.2_Splice_Site_p.K560_splice|EYA1_uc003xyv.3_Splice_Site_p.K444_splice	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	566					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GAATGCTCACCTTTTTTGCTC	0.358													-	72123392	T	-	72123392	8	5	55	1	0	1	0	1	0	0	1	0	5328	1623	56	0	89	0	EYA1	8	72123392	Splice_Site	DEL	T	TCGA-BR-7851-01A-11D-2201-08	1054004	72123392	74240630	773	42121											
TRPA1	8989	broad.mit.edu	37	chr8	72950232	72950232	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatacctgttggaaaatttGccccgcttctttgcaatacc	6	12	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:72950232G>A	uc003xza.2	-	20	2546	c.2371C>T	c.(2371-2373)CAA>TAA	p.Q791*	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	791	Helical; Name=2; (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	TGGAAAATTTGCCCCGCTTCT	0.274													A	72950232	G	A	72950232	4	1	55	1	0	0	0	0	0	1	0	0	16574	1328	46	2	1020	2	TRPA1	8	72950232	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	826840	72950232	73413790	774	42122											
TRPA1	8989	broad.mit.edu	37	chr8	72969971	72969971	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttagagagtagcaaattTacaatattccaagatgcaga	7	7	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:72969971T>C	uc003xza.2	-	9	1249	c.1074A>G	c.(1072-1074)GTA>GTG	p.V358V		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	358	Cytoplasmic (Potential).|ANK 9.					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	GTAGCAAATTTACAATATTCC	0.373													C	72969971	T	C	72969971	2	2	55	1	0	0	0	0	0	0	0	1	16574	1741	61	3		3	TRPA1	8	72969971	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	19739	72969971	73394051	775	42123											
ZFHX4	79776	broad.mit.edu	37	chr8	77768464	77768464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctaccccggactccccGgccttcctccagtccttctc	6	22	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:77768464G>A	uc003yav.2	+	10	9559	c.9172G>A	c.(9172-9174)GGC>AGC	p.G3058S	ZFHX4_uc003yau.1_Missense_Mutation_p.G3103S|ZFHX4_uc003yaw.1_Missense_Mutation_p.G3058S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3058	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CGGACTCCCCGGCCTTCCTCC	0.552										HNSCC(33;0.089)			A	77768464	G	A	77768464	3	1	55	1	0	0	0	0	1	0	0	0	17632	1116	39	1	9341	1	ZFHX4	8	77768464	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	4798493	77768464	68595558	776	42124											
FAM164A	51101	broad.mit.edu	37	chr8	79609723	79609723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattaccgcagccaagtggcGctggcaaaactgttgtaggt	13	9	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:79609723G>A	uc003ybd.2	+	6	688	c.586G>A	c.(586-588)GCT>ACT	p.A196T		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	hypothetical protein LOC51101	196										ovary(1)	1						GCCAAGTGGCGCTGGCAAAAC	0.403													A	79609723	G	A	79609723	3	1	55	1	0	0	0	0	1	0	0	0	5478	1087	38	1	608	1	FAM164A	8	79609723	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1841259	79609723	66754299	777	42125											
CA13	377677	broad.mit.edu	37	chr8	86171660	86171660	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtttagttctgcgtggTggtcctctcactggaagcta	12	8	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:86171660T>C	uc003ydg.2	+	3	588	c.246T>C	c.(244-246)GGT>GGC	p.G82G	CA13_uc003ydf.1_RNA	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	82					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0						TTCTGCGTGGTGGTCCTCTCA	0.458													C	86171660	T	C	86171660	2	2	55	1	0	0	0	0	0	0	0	1	2514	1683	59	3		3	CA13	8	86171660	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	6561937	86171660	60192362	778	42126											
PDP1	54704	broad.mit.edu	37	chr8	94934398	94934398	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctctgttgttcctcatcGtacattcctcagagtcgact	6	13	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:94934398G>A	uc003yge.2	+	2	380	c.111G>A	c.(109-111)TCG>TCA	p.S37S	PDP1_uc003ygf.2_Silent_p.S62S|PDP1_uc010max.2_Silent_p.S62S|PDP1_uc011lgm.1_Silent_p.S37S|PDP1_uc011lgn.1_Silent_p.S96S	NM_018444	NP_060914	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic	37					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						GTTCCTCATCGTACATTCCTC	0.473													A	94934398	G	A	94934398	2	1	55	1	0	0	0	0	0	0	0	1	11685	1132	40	1		1	PDP1	8	94934398	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	8762738	94934398	51429624	779	42127											
INTS8	55656	broad.mit.edu	37	chr8	95844297	95844297	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggatctttatgtccatacGatgagaactctagatttatt	7	6	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:95844297G>A	uc003yhb.2	+	6	774	c.648G>A	c.(646-648)ACG>ACA	p.T216T	INTS8_uc003yha.1_Silent_p.T216T|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Silent_p.T43T	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	216					snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					ATGTCCATACGATGAGAACTC	0.373													A	95844297	G	A	95844297	2	1	55	1	0	0	0	0	0	0	0	1	7784	1045	37	1		1	INTS8	8	95844297	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	909899	95844297	50519725	780	42128											
GDF6	392255	broad.mit.edu	37	chr8	97156959	97156959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagcgtctggatgatggcGtggttggtgggctccaggtg	18	7	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:97156959G>A	uc003yhp.2	-	2	1300	c.1200C>T	c.(1198-1200)CAC>CAT	p.H400H		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	400					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					GGATGATGGCGTGGTTGGTGG	0.617													A	97156959	G	A	97156959	2	1	55	1	0	0	0	0	0	0	0	1	6317	1136	40	1		1	GDF6	8	97156959	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1312662	97156959	49207063	781	42129											
ZFPM2	23414	broad.mit.edu	37	chr8	106814404	106814404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaacattaccttcagccgGcacgaaacatacatggtcca	7	13	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:106814404G>A	uc003ymd.2	+	8	2117	c.2094G>A	c.(2092-2094)CGG>CGA	p.R698R	ZFPM2_uc011lhs.1_Silent_p.R429R	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	698	C2HC-type 3.				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCTTCAGCCGGCACGAAACAT	0.483													A	106814404	G	A	106814404	2	1	55	1	0	0	0	0	0	0	0	1	17655	1190	42	2		2	ZFPM2	8	106814404	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	9657445	106814404	39549618	782	42130											
EIF3E	3646	broad.mit.edu	37	chr8	109241324	109241324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatctatggtctcttttaacCgtgtaaggtcttccatggct	8	9	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:109241324C>T	uc003ymu.2	-	6	600	c.572G>A	c.(571-573)CGG>CAG	p.R191Q	EIF3E_uc003ymt.2_Missense_Mutation_p.R142Q|EIF3E_uc003ymv.2_Missense_Mutation_p.R98Q|EIF3E_uc010mci.1_Missense_Mutation_p.R191Q	NM_001568	NP_001559	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3,	191	Sufficient for interaction with TRIM27.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding			ovary(2)|kidney(1)	3			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			CTCTTTTAACCGTGTAAGGTC	0.393													T	109241324	C	T	109241324	3	4	55	1	0	0	0	0	1	0	0	0	5015	652	23	1	797	1	EIF3E	8	109241324	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2426920	109241324	37122698	783	42131											
KCNV1	27012	broad.mit.edu	37	chr8	110986292	110986292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcaggacatatcggaacGcctgcgagctgcggtcgaag	15	10	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:110986292G>A	uc003ynr.3	-	1	668	c.326C>T	c.(325-327)GCG>GTG	p.A109V	KCNV1_uc010mcw.2_Missense_Mutation_p.A109V	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	109	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ATATCGGAACGCCTGCGAGCT	0.662													A	110986292	G	A	110986292	3	1	55	1	0	0	0	0	1	0	0	0	8094	1087	38	1	1188	1	KCNV1	8	110986292	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1744968	110986292	35377730	784	42132											
DEPDC6	64798	broad.mit.edu	37	chr8	121021305	121021305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggctggggttttgtggtgcGaggaagtaagccatgccaca	16	7	0	0	rs147712866	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:121021305G>A	uc003yow.3	+	8	1221	c.1034G>A	c.(1033-1035)CGA>CAA	p.R345Q	DEPDC6_uc011lid.1_Missense_Mutation_p.R244Q	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	DEP domain containing 6	345	PDZ.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding				0	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTTGTGGTGCGAGGAAGTAAG	0.517													A	121021305	G	A	121021305	3	1	55	1	0	0	0	0	1	0	0	0	4443	1058	37	1	1064	1	DEPDC6	8	121021305	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	10035013	121021305	25342717	785	42133											
COL14A1	7373	broad.mit.edu	37	chr8	121256232	121256232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaaggcgtcagcgtctccGctcctggaaaaacctgtaag	12	12	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:121256232G>A	uc003yox.2	+	20	2729	c.2464G>A	c.(2464-2466)GCT>ACT	p.A822T	COL14A1_uc003yoy.2_Missense_Mutation_p.A500T	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	822	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGCGTCTCCGCTCCTGGAAA	0.463													A	121256232	G	A	121256232	3	1	55	1	0	0	0	0	1	0	0	0	3671	1087	38	1	2538	1	COL14A1	8	121256232	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	234927	121256232	25107790	786	42134											
ZHX1	11244	broad.mit.edu	37	chr8	124267572	124267572	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctctttctcttcaggaacGtcctcaactgagttatgatg	7	10	4	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:124267572G>A	uc003yqe.2	-	3	1045	c.615C>T	c.(613-615)GAC>GAT	p.D205D	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Silent_p.D205D|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Silent_p.D205D	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	205					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTTCAGGAACGTCCTCAACTG	0.348													A	124267572	G	A	124267572	2	1	55	1	0	0	0	0	0	0	0	1	17672	1136	40	1		1	ZHX1	8	124267572	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3011340	124267572	22096450	787	42135											
MTSS1	9788	broad.mit.edu	37	chr8	125597362	125597362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcagtttcagcgtatcCgaggacttcttttttatctc	7	10	4	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:125597362C>T	uc003yrk.2	-	6	960	c.426G>A	c.(424-426)TCG>TCA	p.S142S	MTSS1_uc003yrj.2_Silent_p.S142S|MTSS1_uc003yrl.2_Silent_p.S142S	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	142	IMD.|Potential.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCAGCGTATCCGAGGACTTCT	0.358													T	125597362	C	T	125597362	2	4	55	1	0	0	0	0	0	0	0	1	9962	639	23	1		1	MTSS1	8	125597362	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1329790	125597362	20766660	788	42136											
MYC	4609	broad.mit.edu	37	chr8	128752802	128752802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccacgtctccacacatcaGcacaactacgcagcgcctcc	6	19	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:128752802G>A	uc003ysi.2	+	3	1488	c.963G>A	c.(961-963)CAG>CAA	p.Q321Q		NM_002467	NP_002458	P01106	MYC_HUMAN	myc proto-oncogene protein	306					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		CCACACATCAGCACAACTACG	0.567		3	A|T	IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@	Burkitt lymphoma| amplified in other cancers|B-CLL								A	128752802	G	A	128752802	2	1	55	1	0	0	0	0	0	0	0	1	10016	962	34	2		2	MYC	8	128752802	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3155440	128752802	17611220	789	42137											
ADCY8	114	broad.mit.edu	37	chr8	131916289	131916289	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttggaaatgtgaatcctcCtgtgtgtagaaggcataggt	12	6	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:131916289C>A	uc003ytd.3	-	7	1897	c.1641_splice	c.e7-1	p.G547_splice	ADCY8_uc010mds.2_Splice_Site_p.G547_splice	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTGAATCCTCCTGTGTGTAGA	0.458										HNSCC(32;0.087)			A	131916289	C	A	131916289	5	1	55	1	0	0	0	0	0	0	1	0	300	695	24	5	2163	5	ADCY8	8	131916289	Splice_Site	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3163487	131916289	14447733	790	42138											
OC90	729330	broad.mit.edu	37	chr8	133053404	133053404	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggtgctggaagcagcagCtgtaggaaggccgggaggag	20	7	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:133053404C>T	uc003ytg.2	-	4	297	c.297_splice	c.e4-1	p.S99_splice	OC90_uc011lix.1_Splice_Site_p.S115_splice	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90						lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GAAGCAGCAGCTGTAGGAAGG	0.577													T	133053404	C	T	133053404	5	4	55	1	0	0	0	0	0	0	1	0	10814	811	28	2	1125	2	OC90	8	133053404	Splice_Site	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1137115	133053404	13310618	791	42139											
TG	7038	broad.mit.edu	37	chr8	133885421	133885421	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagtgcaaatttgtcaAcaccacagacatgatgattt	7	9	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:133885421A>G	uc003ytw.2	+	5	634	c.593A>G	c.(592-594)AAC>AGC	p.N198S		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	198	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AAATTTGTCAACACCACAGAC	0.527													G	133885421	A	G	133885421	3	3	55	1	0	0	0	0	1	0	0	0	15810	43	2	3	611	3	TG	8	133885421	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	832017	133885421	12478601	792	42140											
WISP1	8840	broad.mit.edu	37	chr8	134232915	134232915	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtacaactgcacgtgcatCgacggcgcggtgggctgcac	14	12	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:134232915C>T	uc003yub.2	+	3	517	c.441C>T	c.(439-441)ATC>ATT	p.I147I	WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	147	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GCACGTGCATCGACGGCGCGG	0.662													T	134232915	C	T	134232915	2	4	55	1	0	0	0	0	0	0	0	1	17369	874	31	1		1	WISP1	8	134232915	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	347494	134232915	12131107	793	42141											
EIF2C2	27161	broad.mit.edu	37	chr8	141570558	141570558	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcggcccccgccaagaggGttagagcagccttcggacgc	13	15	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:141570558G>A	uc003yvn.2	-	5	610	c.570C>T	c.(568-570)AAC>AAT	p.N190N	EIF2C2_uc010men.2_Silent_p.N113N|EIF2C2_uc010meo.2_Silent_p.N190N	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	190					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			CGCCAAGAGGGTTAGAGCAGC	0.602													A	141570558	G	A	141570558	2	1	55	1	0	0	0	0	0	0	0	1	5006	1252	44	4		4	EIF2C2	8	141570558	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	7337643	141570558	4793464	794	42142											
PTK2	5747	broad.mit.edu	37	chr8	141762399	141762399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatgttttaattgcaaccGccaaagctggattctcctgt	7	10	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:141762399G>A	uc003yvu.2	-	17	1579	c.1349C>T	c.(1348-1350)GCG>GTG	p.A450V	PTK2_uc003yvo.2_Missense_Mutation_p.A78V|PTK2_uc011ljq.1_Missense_Mutation_p.A145V|PTK2_uc003yvp.2_Missense_Mutation_p.A118V|PTK2_uc003yvq.2_5'UTR|PTK2_uc003yvr.2_Missense_Mutation_p.A390V|PTK2_uc003yvs.2_Missense_Mutation_p.A450V|PTK2_uc003yvt.2_Missense_Mutation_p.A472V|PTK2_uc003yvv.2_Missense_Mutation_p.A350V|PTK2_uc011ljr.1_Missense_Mutation_p.A450V	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	450	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			AATTGCAACCGCCAAAGCTGG	0.373													A	141762399	G	A	141762399	3	1	55	1	0	0	0	0	1	0	0	0	12762	1087	38	1	1873	1	PTK2	8	141762399	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	191841	141762399	4601623	795	42143											
ZNF696	79943	broad.mit.edu	37	chr8	144378511	144378511	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccttcggccagaggtcGgacgccgccaagcaccgccg	14	16	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:144378511G>A	uc003yxy.3	+	3	1075	c.666G>A	c.(664-666)TCG>TCA	p.S222S		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	222	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCCAGAGGTCGGACGCCGCCA	0.711													A	144378511	G	A	144378511	2	1	55	1	0	0	0	0	0	0	0	1	18096	1103	39	1		1	ZNF696	8	144378511	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2616112	144378511	1985511	796	42144											
NFKBIL2	4796	broad.mit.edu	37	chr8	145666115	145666115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcacctccagcacgttgcCgctgcgcagcctcagttcct	8	17	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:145666115C>T	uc011llg.1	-	9	1165	c.1150G>A	c.(1150-1152)GGC>AGC	p.G384S		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	384	TPR 8.				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AGCACGTTGCCGCTGCGCAGC	0.637													T	145666115	C	T	145666115	3	4	55	1	0	0	0	0	1	0	0	0	10382	652	23	1	3058	1	NFKBIL2	8	145666115	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1287604	145666115	697907	797	42145											
LRRC14	9684	broad.mit.edu	37	chr8	145746374	145746374	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctacgcttcctggcacggAgcccacatgctgcccacctc	8	19	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:145746374A>G	uc003zdk.1	+	4	1140	c.994A>G	c.(994-996)AGC>GGC	p.S332G	LRRC14_uc003zdl.1_Missense_Mutation_p.S332G|LRRC14_uc003zdo.2_5'Flank	NM_014665	NP_055480	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	332											0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCTGGCACGGAGCCCACATGC	0.627													G	145746374	A	G	145746374	3	3	55	1	0	0	0	0	1	0	0	0	8968	304	11	3	1004	3	LRRC14	8	145746374	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	80259	145746374	617648	798	42146											
VLDLR	7436	broad.mit.edu	37	chr9	2646469	2646469	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaagactatttcagtagcTaccctagatggaaccaagag	8	9	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:2646469T>C	uc003zhk.1	+	11	2017	c.1620T>C	c.(1618-1620)GCT>GCC	p.A540A	VLDLR_uc003zhl.1_Silent_p.A540A|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Silent_p.A499A	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	540	LDL-receptor class B 3.|Extracellular (Potential).				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TTTCAGTAGCTACCCTAGATG	0.463													C	2646469	T	C	2646469	2	2	55	1	0	0	0	0	0	0	0	1	17171	1509	53	3		3	VLDLR	9	2646469	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08		2646469	138566962	799	42147											
SLC1A1	6505	broad.mit.edu	37	chr9	4576594	4576594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacactgcctgtcaccttcCgctgtgctgaagaaaataac	7	13	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:4576594C>T	uc003zij.1	+	10	1260	c.1024C>T	c.(1024-1026)CGC>TGC	p.R342C	C9orf68_uc003zik.2_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	solute carrier family 1, member 1	342					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	TGTCACCTTCCGCTGTGCTGA	0.473													T	4576594	C	T	4576594	3	4	55	1	0	0	0	0	1	0	0	0	14431	652	23	1	1062	1	SLC1A1	9	4576594	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1930125	4576594	136636837	800	42148											
JAK2	3717	broad.mit.edu	37	chr9	5080260	5080260	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaataccatgggtaccaccTgaatgcattgaaaatcctaa	7	9	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:5080260T>C	uc010mhm.2	+	16	2276	c.2163T>C	c.(2161-2163)CCT>CCC	p.P721P	JAK2_uc003ziw.2_Silent_p.P721P	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	721	Protein kinase 1.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GGGTACCACCTGAATGCATTG	0.343		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				C	5080260	T	C	5080260	2	2	55	1	0	0	0	0	0	0	0	1	7938	1567	55	3		3	JAK2	9	5080260	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	503666	5080260	136133171	801	42149											
PTPRD	5789	broad.mit.edu	37	chr9	8521488	8521488	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgatattaacgcttccGcctggcatgatttcatgatt	9	9	1	3	rs147417729	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:8521488G>A	uc003zkk.2	-	19	1461	c.750C>T	c.(748-750)GGC>GGT	p.G250G	PTPRD_uc003zkp.2_Silent_p.G250G|PTPRD_uc003zkq.2_Silent_p.G250G|PTPRD_uc003zkr.2_Silent_p.G244G|PTPRD_uc003zks.2_Silent_p.G240G|PTPRD_uc003zkl.2_Silent_p.G250G|PTPRD_uc003zkm.2_Silent_p.G237G|PTPRD_uc003zkn.2_Silent_p.G250G|PTPRD_uc003zko.2_Silent_p.G247G	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	250	Extracellular (Potential).|Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TAACGCTTCCGCCTGGCATGA	0.468										TSP Lung(15;0.13)			A	8521488	G	A	8521488	2	1	55	1	0	0	0	0	0	0	0	1	12799	1074	38	1		1	PTPRD	9	8521488	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3441228	8521488	132691943	802	42150											
FREM1	158326	broad.mit.edu	37	chr9	14784441	14784441	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccccactacatccatttGgctgaagtttgtaatgggaa	9	10	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:14784441G>A	uc003zlm.2	-	24	4959	c.4369C>T	c.(4369-4371)CAA>TAA	p.Q1457*	FREM1_uc010mic.2_Intron	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	1457	CSPG 10.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		ACATCCATTTGGCTGAAGTTT	0.483													A	14784441	G	A	14784441	4	1	55	1	0	0	0	0	0	1	0	0	6044	1357	47	4	2276	4	FREM1	9	14784441	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	6262953	14784441	126428990	803	42151											
FREM1	158326	broad.mit.edu	37	chr9	14842486	14842486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaacattggttatgaggaaCgggggactatcatctttggg	13	6	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:14842486C>T	uc003zlm.2	-	9	2156	c.1566G>A	c.(1564-1566)CCG>CCA	p.P522P	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	522	CSPG 3.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		TTATGAGGAACGGGGGACTAT	0.512													T	14842486	C	T	14842486	2	4	55	1	0	0	0	0	0	0	0	1	6044	523	19	1		1	FREM1	9	14842486	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	58045	14842486	126370945	804	42152											
BNC2	54796	broad.mit.edu	37	chr9	16437444	16437444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatttggtttctccaaaccGcagaaactgctgaagggtga	12	8	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:16437444G>A	uc003zml.2	-	6	888	c.748C>T	c.(748-750)CGG>TGG	p.R250W	BNC2_uc011lmw.1_Missense_Mutation_p.R155W|BNC2_uc003zmm.2_Missense_Mutation_p.R208W|BNC2_uc003zmq.1_Missense_Mutation_p.R264W|BNC2_uc003zmr.1_Missense_Mutation_p.R287W|BNC2_uc003zmp.1_Missense_Mutation_p.R278W|BNC2_uc010mij.1_Missense_Mutation_p.R172W|BNC2_uc011lmv.1_Missense_Mutation_p.R76W|BNC2_uc003zmo.1_Missense_Mutation_p.R172W|BNC2_uc003zmj.2_Missense_Mutation_p.R15W|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.R15W|BNC2_uc003zmn.1_Missense_Mutation_p.R15W	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		TCTCCAAACCGCAGAAACTGC	0.502													A	16437444	G	A	16437444	3	1	55	1	0	0	0	0	1	0	0	0	1475	1086	38	1	2559	1	BNC2	9	16437444	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1594958	16437444	124775987	805	42153											
CNTLN	54875	broad.mit.edu	37	chr9	17330768	17330768	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccaacaagggtttctccCgaaagagcatcatgacaagt	9	11	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:17330768C>T	uc003zmz.2	+	9	1506	c.1480C>T	c.(1480-1482)CGA>TGA	p.R494*	CNTLN_uc003zmy.2_Nonsense_Mutation_p.R494*|CNTLN_uc010mio.2_Nonsense_Mutation_p.R173*	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	494						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		GGGTTTCTCCCGAAAGAGCAT	0.383													T	17330768	C	T	17330768	4	4	55	1	0	0	0	0	0	1	0	0	3639	644	23	1	1544	1	CNTLN	9	17330768	Nonsense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	893324	17330768	123882663	806	42154											
SLC24A2	25769	broad.mit.edu	37	chr9	19516289	19516289	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggcgatagagaggatgacGaagagcagcatgatgaagag	17	4	0	6			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:19516289G>A	uc003zoa.1	-	10	1910	c.1848C>T	c.(1846-1848)TTC>TTT	p.F616F	SLC24A2_uc003zob.1_Silent_p.F599F	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	616	Helical; (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AGAGGATGACGAAGAGCAGCA	0.522													A	19516289	G	A	19516289	2	1	55	1	0	0	0	0	0	0	0	1	14466	1049	37	1		1	SLC24A2	9	19516289	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2185521	19516289	121697142	807	42155											
IFNB1	3456	broad.mit.edu	37	chr9	21077644	21077644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatagatggtcaatgcggcGtcctccttctggaactgctg	11	11	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:21077644G>A	uc003zok.2	-	1	300	c.225C>T	c.(223-225)GAC>GAT	p.D75D		NM_002176	NP_002167	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast precursor	75					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			ovary(1)|breast(1)|kidney(1)	3				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	TCAATGCGGCGTCCTCCTTCT	0.468													A	21077644	G	A	21077644	2	1	55	1	0	0	0	0	0	0	0	1	7546	1136	40	1		1	IFNB1	9	21077644	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1561355	21077644	120135787	808	42156											
IFNA4	3441	broad.mit.edu	37	chr9	21187385	21187385	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttcaggcaggagaaaTgagagattcttcccatttgt	10	8	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:21187385T>G	uc003zon.2	-	1	214	c.146A>C	c.(145-147)CAT>CCT	p.H49P		NM_021068	NP_066546	P05014	IFNA4_HUMAN	interferon, alpha 4 precursor	49					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GCAGGAGAAATGAGAGATTCT	0.517													G	21187385	T	G	21187385	3	3	55	1	0	0	0	0	1	0	0	0	7539	1464	51	5	427	5	IFNA4	9	21187385	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	109741	21187385	120026046	809	42157											
IFNA13	3447	broad.mit.edu	37	chr9	21367439	21367439	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgttggaccaggtgttAttccttcctccttaatcttt	6	10	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:21367439A>G	uc003zpa.2	-	1	637	c.571T>C	c.(571-573)TAA>CAA	p.*191Q		NM_006900	NP_008831	P01562	IFNA1_HUMAN	interferon, alpha 13 precursor	191					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			ovary(1)	1				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		ACCAGGTGTTATTCCTTCCTC	0.403													G	21367439	A	G	21367439	4	3	55	1	0	0	0	0	0	0	0	0	7533	462	16	3	5	3	IFNA13	9	21367439	Nonstop_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	180054	21367439	119845992	810	42158											
DCTN3	11258	broad.mit.edu	37	chr9	34618719	34618720	+	Frame_Shift_Ins	INS	-	-	C													ccctcttgctggaaatgttcINScccaaagccacctgcacctt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:34618718_34618719T>TC	uc003zux.1	-	1	170_171	c.135_136A>GA	c.(133-138)gggaacfs	p.G45fs	DCTN3_uc003zuw.1_Frame_Shift_Ins_p.G45fs	NM_007234	NP_009165	O75935	DCTN3_HUMAN	Homo sapiens dynactin 3 (p22) (DCTN3), transcript variant 1, mRNA.	45					G2/M transition of mitotic cell cycle|cytokinesis|mitosis	centrosome|cleavage furrow|condensed chromosome kinetochore|cytosol|dynactin complex|midbody|perinuclear region of cytoplasm|spindle	protein binding|structural molecule activity			large_intestine(1)|skin(1)	2	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0388)		CTGGAAATGTTCCCCAAAGCCA	0.515													C	34618720	-	C	34618719	7	5	55	1	0	1	1	0	0	0	0	0	4308	842	30	0	546	0	DCTN3	9	34618719	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	13251280	34618719	106594712	811	42159											
VCP	7415	broad.mit.edu	37	chr9	35059794	35059794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacacagggggcagcttggCgggcctgtaggaggaatgga	19	8	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:35059794C>T	uc003zvy.2	-	14	2089	c.1700G>A	c.(1699-1701)CGC>CAC	p.R567H	VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Missense_Mutation_p.R236H|VCP_uc010mki.1_Missense_Mutation_p.R522H	NM_007126	NP_009057	P55072	TERA_HUMAN	valosin-containing protein	567					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			upper_aerodigestive_tract(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGCAGCTTGGCGGGCCTGTAG	0.413													T	35059794	C	T	35059794	3	4	55	1	0	0	0	0	1	0	0	0	17137	768	27	1	736	1	VCP	9	35059794	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	441075	35059794	106153637	812	42160											
TLN1	7094	broad.mit.edu	37	chr9	35720844	35720844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgatgtagccggcaatgaGctgtgcaatctgctcccctt	10	12	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:35720844G>A	uc003zxt.2	-	11	1525	c.1171C>T	c.(1171-1173)CTC>TTC	p.L391F		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	391	FERM.|Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGGCAATGAGCTGTGCAATC	0.512													A	35720844	G	A	35720844	3	1	55	1	0	0	0	0	1	0	0	0	15944	971	34	2	6642	2	TLN1	9	35720844	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	661050	35720844	105492587	813	42161											
NPR2	4882	broad.mit.edu	37	chr9	35792815	35792815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctaagaatgaccattatcGtaccctggttcgcactggcc	10	12	0	2	rs115064396	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:35792815G>A	uc003zyd.2	+	1	410	c.410G>A	c.(409-411)CGT>CAT	p.R137H	NPR2_uc010mlb.2_Missense_Mutation_p.R137H	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	137	Extracellular (Potential).				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			ovary(2)|stomach(1)	3	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GACCATTATCGTACCCTGGTT	0.602													A	35792815	G	A	35792815	3	1	55	1	0	0	0	0	1	0	0	0	10595	1145	40	1	412	1	NPR2	9	35792815	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	71971	35792815	105420616	814	42162											
CCIN	881	broad.mit.edu	37	chr9	36170020	36170020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctccatgcacttcatgcGctgtccacctgttatctttg	9	13	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:36170020G>A	uc003zzb.3	+	1	632	c.521G>A	c.(520-522)CGC>CAC	p.R174H		NM_005893	NP_005884	Q13939	CALI_HUMAN	calicin	174	BACK.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			ovary(1)|skin(1)	2			STAD - Stomach adenocarcinoma(86;0.228)			CACTTCATGCGCTGTCCACCT	0.532													A	36170020	G	A	36170020	3	1	55	1	0	0	0	0	1	0	0	0	2878	1087	38	1	523	1	CCIN	9	36170020	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	377205	36170020	105043411	815	42163											
SMC5	23137	broad.mit.edu	37	chr9	72962062	72962062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagagcttcctgcttcacGggactgaatcctacagtatg	9	11	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:72962062G>A	uc004ahr.2	+	20	2766	c.2649G>A	c.(2647-2649)ACG>ACA	p.T883T	SMC5_uc011lry.1_Silent_p.T28T	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	883					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						CCTGCTTCACGGGACTGAATC	0.438													A	72962062	G	A	72962062	2	1	55	1	0	0	0	0	0	0	0	1	14786	1103	39	1		1	SMC5	9	72962062	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	36792042	72962062	68251369	816	42164											
AGTPBP1	23287	broad.mit.edu	37	chr9	88203240	88203240	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgacaccatctggatttAacatagggacaattttaaaa	7	6	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:88203240A>G	uc011ltd.1	-	20	2909	c.2876T>C	c.(2875-2877)TTA>TCA	p.L959S	AGTPBP1_uc004aod.3_Missense_Mutation_p.L585S|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Missense_Mutation_p.L919S|AGTPBP1_uc011lte.1_Missense_Mutation_p.L971S	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	959					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						ATCTGGATTTAACATAGGGAC	0.348													G	88203240	A	G	88203240	3	3	55	1	0	0	0	0	1	0	0	0	400	372	13	3	828	3	AGTPBP1	9	88203240	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	15241178	88203240	53010191	817	42165											
AGTPBP1	23287	broad.mit.edu	37	chr9	88287483	88287483	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagttggcagaatatactcGtaaaagctgaaggcaaggta	11	6	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:88287483G>A	uc011ltd.1	-	6	583	c.550C>T	c.(550-552)CGA>TGA	p.R184*	AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Nonsense_Mutation_p.R184*|AGTPBP1_uc011lte.1_Nonsense_Mutation_p.R236*	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	184					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						GAATATACTCGTAAAAGCTGA	0.363													A	88287483	G	A	88287483	4	1	55	1	0	0	0	0	0	1	0	0	400	1153	40	1	3090	1	AGTPBP1	9	88287483	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	84243	88287483	52925948	818	42166											
IARS	3376	broad.mit.edu	37	chr9	95030531	95030531	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaattgtccagtcacgTgcatctttcagccaatttcc	7	12	3	0	rs144681367	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:95030531T>C	uc004art.1	-	14	1613	c.1356A>G	c.(1354-1356)GCA>GCG	p.A452A	IARS_uc004ars.1_Silent_p.A297A|IARS_uc004aru.3_Silent_p.A452A|IARS_uc010mqr.2_Silent_p.A342A|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	452					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)	TCCAGTCACGTGCATCTTTCA	0.443													C	95030531	T	C	95030531	2	2	55	1	0	0	0	0	0	0	0	1	7473	1683	59	3		3	IARS	9	95030531	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	6743048	95030531	46182900	819	42167											
PTCH1	5727	broad.mit.edu	37	chr9	98209593	98209593	+	Frame_Shift_Del	DEL	G	G	-													gcgtctctgcgcggtctgtaGgggggtggccacaagccttc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:98209592_98209592AG>A	uc004avk.4	-	22	4134	c.3946_3946CT>T	c.(3946-3948)tacfs	p.Y1316fs	PTCH1_uc010mrn.3_Frame_Shift_Del_p.Y108fs|PTCH1_uc010mro.3_Frame_Shift_Del_p.Y1165fs|PTCH1_uc010mrp.3_Frame_Shift_Del_p.Y1165fs|PTCH1_uc010mrq.3_Frame_Shift_Del_p.Y1165fs|PTCH1_uc004avl.4_Frame_Shift_Del_p.Y1165fs|PTCH1_uc004avm.4_Frame_Shift_Del_p.Y1315fs|PTCH1_uc010mrr.3_Frame_Shift_Del_p.Y1250fs	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1316					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.L1315P(6)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CGCGGTCTGTAGGGGGGTGGC	0.667													-	98209593	G	-	98209593	7	5	55	1	0	1	0	1	0	0	0	0	12730	987	35	0	402	0	PTCH1	9	98209593	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	3179062	98209593	43003838	820	42168											
PTCH1	5727	broad.mit.edu	37	chr9	98241295	98241295	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtttacctccacatatgtcCtctgccaggcctccaggatg	9	14	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:98241295C>A	uc004avk.3	-	8	1390	c.1202G>T	c.(1201-1203)AGG>ATG	p.R401M	PTCH1_uc010mro.2_Missense_Mutation_p.R250M|PTCH1_uc010mrp.2_Missense_Mutation_p.R250M|PTCH1_uc010mrq.2_Missense_Mutation_p.R250M|PTCH1_uc004avl.3_Missense_Mutation_p.R250M|PTCH1_uc010mrr.2_Missense_Mutation_p.R335M|PTCH1_uc004avm.3_Missense_Mutation_p.R400M|PTCH1_uc010mrs.1_Missense_Mutation_p.R121M	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	401	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CACATATGTCCTCTGCCAGGC	0.478									Basal_Cell_Nevus_syndrome				A	98241295	C	A	98241295	3	1	55	1	0	0	0	0	1	0	0	0	12730	681	24	5	3205	5	PTCH1	9	98241295	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	31702	98241295	42972136	821	42169											
HABP4	22927	broad.mit.edu	37	chr9	99220669	99220669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgttggtaggccagaagCggactcctagaagaggggag	16	7	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:99220669C>T	uc010msg.2	+	2	506	c.358C>T	c.(358-360)CGG>TGG	p.R120W	HABP4_uc010msh.2_Missense_Mutation_p.R120W	NM_014282	NP_055097	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	120					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AGGCCAGAAGCGGACTCCTAG	0.493													T	99220669	C	T	99220669	3	4	55	1	0	0	0	0	1	0	0	0	6939	759	27	1	364	1	HABP4	9	99220669	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	979374	99220669	41992762	822	42170											
COL15A1	1306	broad.mit.edu	37	chr9	101824544	101824544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgggagaactgatcccCattcctgccgacagccctcc	9	16	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:101824544C>T	uc004azb.1	+	38	3755	c.3549C>T	c.(3547-3549)CCC>CCT	p.P1183P		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1183	Nonhelical region 10 (NC10).			Missing (in Ref. 2; AAC78500).	angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				AACTGATCCCCATTCCTGCCG	0.438													T	101824544	C	T	101824544	2	4	55	1	0	0	0	0	0	0	0	1	3672	581	21	4		4	COL15A1	9	101824544	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2603875	101824544	39388887	823	42171											
SMC2	10592	broad.mit.edu	37	chr9	106878506	106878507	+	Frame_Shift_Ins	INS	-	-	G													ggtaaaaagctactagaaagINSgggggaactgaaacgtcgat							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:106878505_106878506A>AG	uc004bbv.3	+	13	1984_1985	c.1696_1697A>AG	c.(1696-1698)aggfs	p.R566fs	SMC2_uc004bbu.1_Frame_Shift_Ins_p.R566fs|SMC2_uc004bbw.3_Frame_Shift_Ins_p.R566fs|SMC2_uc011lvl.2_Frame_Shift_Ins_p.R566fs|SMC2_uc004bbx.3_Frame_Shift_Ins_p.R566fs	NM_001042551	NP_006435	O95347	SMC2_HUMAN	Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.	566	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GCTACTAGAAAGGGGGGAACTG	0.351													G	106878507	-	G	106878506	7	5	55	1	0	1	1	0	0	0	0	0	14783	1000	35	0	1747	0	SMC2	9	106878506	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	5053962	106878506	34334925	824	42172											
TMEM38B	55151	broad.mit.edu	37	chr9	108536306	108536306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtcattggcctcaaagcCggtagatgttgcctcagata	12	9	3	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:108536306C>T	uc004bcu.1	+	6	938	c.821C>T	c.(820-822)CCG>CTG	p.P274L	TMEM38B_uc010mtn.1_3'UTR	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	274	Cytoplasmic (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			ovary(1)|skin(1)	2						GCCTCAAAGCCGGTAGATGTT	0.393													T	108536306	C	T	108536306	3	4	55	1	0	0	0	0	1	0	0	0	16157	652	23	1	843	1	TMEM38B	9	108536306	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1657800	108536306	32677125	825	42173											
PTPN3	5774	broad.mit.edu	37	chr9	112199206	112199206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagaagtcgagggtccgcGctatgttgatatagcaggat	13	7	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:112199206G>A	uc004bed.2	-	9	744	c.632C>T	c.(631-633)GCG>GTG	p.A211V	PTPN3_uc004beb.2_Missense_Mutation_p.A80V|PTPN3_uc004bec.2_Missense_Mutation_p.A80V|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.A211V|PTPN3_uc011lwh.1_Missense_Mutation_p.A102V	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	211	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						GAGGGTCCGCGCTATGTTGAT	0.398													A	112199206	G	A	112199206	3	1	55	1	0	0	0	0	1	0	0	0	12789	1087	38	1	2181	1	PTPN3	9	112199206	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3662900	112199206	29014225	826	42174											
SVEP1	79987	broad.mit.edu	37	chr9	113148241	113148241	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtaatgatgccgtggcCctgcagcagaaaaccttccc	11	13	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:113148241C>A	uc010mtz.2	-	43	10511	c.10174G>T	c.(10174-10176)GGC>TGC	p.G3392C	SVEP1_uc010mty.2_Missense_Mutation_p.G1318C	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	3392	Sushi 33.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						ATGCCGTGGCCCTGCAGCAGA	0.493													A	113148241	C	A	113148241	3	1	55	1	0	0	0	0	1	0	0	0	15417	623	22	5	565	5	SVEP1	9	113148241	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	949035	113148241	28065190	827	42175											
SVEP1	79987	broad.mit.edu	37	chr9	113171074	113171074	+	Frame_Shift_Del	DEL	G	G	-													tcatgaagccattctggatcGggggaggttttccacagtcg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:113171073_113171073CG>C	uc010mtz.3	-	37	7144	c.6807_6807CG>G	c.(6805-6807)ccgfs	p.P2269fs	SVEP1_uc010mty.3_Frame_Shift_Del_p.P195fs	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2269	Sushi 15.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.P2272P(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CATTCTGGATCGGGGGAGGTT	0.478													-	113171074	G	-	113171074	7	5	55	1	0	1	0	1	0	0	0	0	15417	1116	39	0	3953	0	SVEP1	9	113171074	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	22833	113171074	28042357	828	42176											
C9orf43	257169	broad.mit.edu	37	chr9	116188008	116188008	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccgttcatgaccgtctctAtggtaaggggaatatatgct	10	9	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:116188008A>G	uc004bho.3	+	11	1424	c.1028A>G	c.(1027-1029)TAT>TGT	p.Y343C	C9orf43_uc004bhp.2_Missense_Mutation_p.Y343C	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	hypothetical protein LOC257169	343											0						GACCGTCTCTATGGTAAGGGG	0.473													G	116188008	A	G	116188008	3	3	55	1	0	0	0	0	1	0	0	0	2483	449	16	3	1066	3	C9orf43	9	116188008	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	3016934	116188008	25025423	829	42177											
COL27A1	85301	broad.mit.edu	37	chr9	116999956	116999956	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccacagggcaaagtcggagaCaaaggatccattgggtttcc	12	10	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:116999956C>G	uc011lxl.1	+	19	2688	c.2688C>G	c.(2686-2688)GAC>GAG	p.D896E	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	896	Collagen-like 5.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						AAGTCGGAGACAAAGGATCCA	0.602													G	116999956	C	G	116999956	3	3	55	1	0	0	0	0	1	0	0	0	3685	477	17	5	2762	5	COL27A1	9	116999956	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	811948	116999956	24213475	830	42178											
PAPPA	5069	broad.mit.edu	37	chr9	118950298	118950298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgagaactgtgaccccgaGtgcaaccacacgctgacggg	13	12	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:118950298G>A	uc004bjn.2	+	2	1662	c.1281G>A	c.(1279-1281)GAG>GAA	p.E427E	PAPPA_uc011lxp.1_Silent_p.E220E|PAPPA_uc011lxq.1_Silent_p.E220E	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	427	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						GTGACCCCGAGTGCAACCACA	0.627													A	118950298	G	A	118950298	2	1	55	1	0	0	0	0	0	0	0	1	11432	1020	36	4		4	PAPPA	9	118950298	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1950342	118950298	22263133	831	42179											
ASTN2	23245	broad.mit.edu	37	chr9	119858335	119858335	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actattacctttgctgcggcGgcgactgcggtactgctccg	12	13	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:119858335G>T	uc004bjs.1	-	5	1365	c.1264C>A	c.(1264-1266)CGC>AGC	p.R422S	ASTN2_uc004bjr.1_Missense_Mutation_p.R422S|ASTN2_uc004bjt.1_Missense_Mutation_p.R371S	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	422	Cytoplasmic (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						TTGCTGCGGCGGCGACTGCGG	0.502													T	119858335	G	T	119858335	3	4	55	1	0	0	0	0	1	0	0	0	1065	1116	39	5	3063	5	ASTN2	9	119858335	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	908037	119858335	21355096	832	42180											
ASTN2	23245	broad.mit.edu	37	chr9	120176844	120176844	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcgccccggcagctcgtTacgcacaaagagcaggaggc	14	13	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:120176844T>C	uc004bjs.1	-	1	474	c.373A>G	c.(373-375)AAC>GAC	p.N125D	ASTN2_uc004bjr.1_Missense_Mutation_p.N125D|ASTN2_uc004bjt.1_Missense_Mutation_p.N125D	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	125	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						GGCAGCTCGTTACGCACAAAG	0.642													C	120176844	T	C	120176844	3	2	55	1	0	0	0	0	1	0	0	0	1065	1754	61	3	3813	3	ASTN2	9	120176844	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	318509	120176844	21036587	833	42181											
TLR4	7099	broad.mit.edu	37	chr9	120474741	120474741	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccttaatattgacaggaaAccccatccagagtttagccc	6	12	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:120474741A>G	uc004bjz.2	+	3	626	c.335A>G	c.(334-336)AAC>AGC	p.N112S	TLR4_uc004bka.2_Missense_Mutation_p.N72S|TLR4_uc004bkb.2_5'UTR	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	112	LRR 3.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						TTGACAGGAAACCCCATCCAG	0.443													G	120474741	A	G	120474741	3	3	55	1	0	0	0	0	1	0	0	0	15950	43	2	3	345	3	TLR4	9	120474741	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	297897	120474741	20738690	834	42182											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123171411	123171411	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcacagccactacctgctcAgctcctggccgctgcagcgg	11	17	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:123171411A>G	uc004bkf.2	-	30	4779	c.4598T>C	c.(4597-4599)CTG>CCG	p.L1533P	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.L542P|CDK5RAP2_uc004bke.2_Missense_Mutation_p.L818P|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.L1533P|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.L798P|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.L798P|CDK5RAP2_uc011lya.1_Missense_Mutation_p.L798P|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.L1303P|CDK5RAP2_uc004bki.2_Missense_Mutation_p.L1300P	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1533					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						CTACCTGCTCAGCTCCTGGCC	0.602													G	123171411	A	G	123171411	3	3	55	1	0	0	0	0	1	0	0	0	3146	188	7	3	1119	3	CDK5RAP2	9	123171411	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	2696670	123171411	18042020	835	42183											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123222895	123222895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactcaggaaattaatctcGtcatcctccccaattttgat	4	12	4	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:123222895G>A	uc004bkf.2	-	19	2338	c.2157C>T	c.(2155-2157)GAC>GAT	p.D719D	CDK5RAP2_uc004bke.2_Intron|CDK5RAP2_uc004bkg.2_Silent_p.D719D|CDK5RAP2_uc011lxw.1_Translation_Start_Site|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Translation_Start_Site|CDK5RAP2_uc011lya.1_Translation_Start_Site|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.2_Intron	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	719					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						AATTAATCTCGTCATCCTCCC	0.443													A	123222895	G	A	123222895	2	1	55	1	0	0	0	0	0	0	0	1	3146	1136	40	1		1	CDK5RAP2	9	123222895	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	51484	123222895	17990536	836	42184											
TTLL11	158135	broad.mit.edu	37	chr9	124751596	124751596	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcagaccagaccttctTgatgtcaacgcctttggaag	10	10	3	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:124751596T>C	uc004blt.1	-	4	1605	c.1417A>G	c.(1417-1419)AAG>GAG	p.K473E	TTLL11_uc011lyl.1_Missense_Mutation_p.K473E|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_Missense_Mutation_p.K150E|TTLL11_uc004blu.1_3'UTR	NM_194252	NP_919228	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	473	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity				0						CAGACCTTCTTGATGTCAACG	0.522													C	124751596	T	C	124751596	3	2	55	1	0	0	0	0	1	0	0	0	16721	1821	63	3	1087	3	TTLL11	9	124751596	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	1528701	124751596	16461835	837	42185											
PTGS1	5742	broad.mit.edu	37	chr9	125145862	125145862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactacccccgaggcatcccGccccagagccagatggctgt	10	18	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:125145862G>A	uc004bmg.1	+	8	972	c.837G>A	c.(835-837)CCG>CCA	p.P279P	PTGS1_uc011lys.1_Silent_p.P254P|PTGS1_uc010mwb.1_Silent_p.P170P|PTGS1_uc004bmf.1_Silent_p.P279P|PTGS1_uc004bmh.1_Silent_p.P170P|PTGS1_uc011lyt.1_Silent_p.P170P	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	279					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|skin(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GAGGCATCCCGCCCCAGAGCC	0.627													A	125145862	G	A	125145862	2	1	55	1	0	0	0	0	0	0	0	1	12755	1074	38	1		1	PTGS1	9	125145862	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	394266	125145862	16067569	838	42186											
RC3H2	54542	broad.mit.edu	37	chr9	125621307	125621307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggagggaggactctggaaCgttattggacctcacaaagc	14	8	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:125621307C>T	uc010mwc.1	-	12	2165	c.1924G>A	c.(1924-1926)GTT>ATT	p.V642I	RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.V642I|RC3H2_uc004bne.3_Missense_Mutation_p.V642I	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	642	Pro-rich.					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4						GACTCTGGAACGTTATTGGAC	0.488													T	125621307	C	T	125621307	3	4	55	1	0	0	0	0	1	0	0	0	13167	536	19	1	1769	1	RC3H2	9	125621307	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	475445	125621307	15592124	839	42187											
RABGAP1	23637	broad.mit.edu	37	chr9	125746957	125746957	+	Frame_Shift_Del	DEL	A	A	-													tgtgccattagtagggctccAaaaaccagagatgagcctac							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:125746956_125746956CA>C	uc011lzh.2	+	2	477	c.343_343CA>C	c.(343-345)caafs	p.Q115fs	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc004bnm.1_Frame_Shift_Del_p.Q115fs	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	115					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AGTAGGGCTCCAAAAACCAGA	0.458													-	125746957	A	-	125746957	7	5	55	1	0	1	0	1	0	0	0	0	12964	130	5	0	350	0	RABGAP1	9	125746957	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	125650	125746957	15466474	840	42188											
GPR21	2844	broad.mit.edu	37	chr9	125797387	125797387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagatgtgtttcagtggtGtgcggagtcctggcacaccg	16	8	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:125797387G>A	uc011lzk.1	+	1	542	c.542G>A	c.(541-543)TGT>TAT	p.C181Y	RABGAP1_uc004bnl.3_Intron|RABGAP1_uc011lzh.1_Intron|RABGAP1_uc011lzj.1_Intron|GPR21_uc011lzi.1_RNA	NM_005294	NP_005285	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	181	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1						TTTCAGTGGTGTGCGGAGTCC	0.488													A	125797387	G	A	125797387	3	1	55	1	0	0	0	0	1	0	0	0	6681	1377	48	4	544	4	GPR21	9	125797387	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	50430	125797387	15416044	841	42189											
CRB2	286204	broad.mit.edu	37	chr9	126129551	126129552	+	Frame_Shift_Ins	INS	-	-	G													gctctgacccggccctctacINSgggggtgtccaggccgcctt					rs147047443	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:126129551_126129552insG	uc004bnx.1	+	5	947_948	c.855_856insG	c.(853-858)TACGGGfs	p.Y285fs	CRB2_uc004bnw.1_Frame_Shift_Ins_p.Y285fs	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	285_286	Extracellular (Potential).|EGF-like 6.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						CGGCCCTCTACGGGGGTGTCCA	0.693													G	126129552	-	G	126129551	7	5	55	1	0	1	1	0	0	0	0	0	3849	547	19	0	873	0	CRB2	9	126129551	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	332164	126129551	15083880	842	42190	144	2									
CRB2	286204	broad.mit.edu	37	chr9	126129552	126129553	+	Frame_Shift_Ins	INS	-	-	G													ctctgacccggccctctacgINSggggtgtccaggccgccttc					rs138281838	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:126129551_126129552C>CG	uc004bnx.1	+	4	947_948	c.855_856C>CG	c.(853-858)tacgggfs	p.Y285fs	CRB2_uc004bnw.1_Frame_Shift_Ins_p.Y285fs	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	285	EGF-like 6.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGGCCCTCTACGGGGGTGTCCA	0.693													G	126129553	-	G	126129552	7	5	55	1	0	1	1	0	0	0	0	0	3849	1116	39	0	874	0	CRB2	9	126129552	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	1	126129552	15083879	843	42191	144	2									
CRB2	286204	broad.mit.edu	37	chr9	126133051	126133051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctctgcccagctgggggaCgcgacctttgcaggctgcct	13	15	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:126133051C>T	uc004bnx.1	+	7	1811	c.1719C>T	c.(1717-1719)GAC>GAT	p.D573D	CRB2_uc004bnw.1_Silent_p.D573D	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	573	Extracellular (Potential).|Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						AGCTGGGGGACGCGACCTTTG	0.687													T	126133051	C	T	126133051	2	4	55	1	0	0	0	0	0	0	0	1	3849	535	19	1		1	CRB2	9	126133051	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3499	126133051	15080380	844	42192											
CRB2	286204	broad.mit.edu	37	chr9	126135794	126135794	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggccagtgacctgggctTcctgcagggcccgggtgctg	16	14	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:126135794T>C	uc004bnx.1	+	10	3076	c.2984T>C	c.(2983-2985)TTC>TCC	p.F995S	CRB2_uc004bnw.1_Missense_Mutation_p.F995S	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	995	Extracellular (Potential).|Laminin G-like 3.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						GACCTGGGCTTCCTGCAGGGC	0.721													C	126135794	T	C	126135794	3	2	55	1	0	0	0	0	1	0	0	0	3849	1783	62	3	3022	3	CRB2	9	126135794	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	2743	126135794	15077637	845	42193											
NR5A1	2516	broad.mit.edu	37	chr9	127255348	127255348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgctgccctccttgccGtgctggacctggcggtagat	14	12	0	1	rs147024762		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:127255348G>A	uc004boo.1	-	5	1138	c.951C>T	c.(949-951)CAC>CAT	p.H317H		NM_004959	NP_004950	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	317	Important for dimerization.|Ligand-binding.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0						CCTCCTTGCCGTGCTGGACCT	0.687													A	127255348	G	A	127255348	2	1	55	1	0	0	0	0	0	0	0	1	10635	1136	40	1		1	NR5A1	9	127255348	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1119554	127255348	13958083	846	42194											
PBX3	5090	broad.mit.edu	37	chr9	128723070	128723070	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggccgtgacagctgcacaCgcagtagcagcagctgtgca	13	13	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:128723070C>T	uc004bqb.2	+	6	1067	c.951C>T	c.(949-951)CAC>CAT	p.H317H	PBX3_uc004bqc.2_Silent_p.H136H|PBX3_uc004bqd.2_Silent_p.H136H|PBX3_uc011lzw.1_Silent_p.H242H|PBX3_uc011lzx.1_Silent_p.H228H|PBX3_uc004bqe.2_Silent_p.H225H	NM_006195	NP_006186	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3 isoform 1	317					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1						CAGCTGCACACGCAGTAGCAG	0.547													T	128723070	C	T	128723070	2	4	55	1	0	0	0	0	0	0	0	1	11494	535	19	1		1	PBX3	9	128723070	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1467722	128723070	12490361	847	42195											
GOLGA2	2801	broad.mit.edu	37	chr9	131023072	131023072	+	Frame_Shift_Del	DEL	G	G	-													ctgctgggggctctgggggcGggggttcagctgagaaagga							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:131023072delG	uc011maw.1	-	17	1362	c.1349delC	c.(1348-1350)CCGfs	p.P450fs	GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_5'UTR|uc004bun.2_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	450	Potential.|Poly-Pro.					Golgi cisterna membrane	protein binding			ovary(1)	1						CTCTGGGGGCGGGGGTTCAGC	0.597													-	131023072	G	-	131023072	7	5	55	1	0	1	0	1	0	0	0	0	6552	1116	39	0	1699	0	GOLGA2	9	131023072	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	2300002	131023072	10190359	848	42196											
GLE1	2733	broad.mit.edu	37	chr9	131285932	131285932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcaagcagaacaggagcGgcttcggaaggaagaaggcc	16	8	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:131285932G>A	uc004bvj.2	+	6	818	c.704G>A	c.(703-705)CGG>CAG	p.R235Q	GLE1_uc004bvi.2_Missense_Mutation_p.R235Q|GLE1_uc010myd.2_5'UTR	NM_001003722	NP_001003722	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator homolog isoform 1	235	Potential.				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding				0						GAACAGGAGCGGCTTCGGAAG	0.592													A	131285932	G	A	131285932	3	1	55	1	0	0	0	0	1	0	0	0	6435	1116	39	1	726	1	GLE1	9	131285932	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	262860	131285932	9927499	849	42197											
SPTAN1	6709	broad.mit.edu	37	chr9	131371238	131371238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagacatttctagccggcGcaatgaggtcttggacaggt	15	8	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:131371238G>A	uc004bvl.3	+	35	4690	c.4577G>A	c.(4576-4578)CGC>CAC	p.R1526H	SPTAN1_uc004bvm.3_Missense_Mutation_p.R1526H|SPTAN1_uc004bvn.3_Missense_Mutation_p.R1506H	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1526	Spectrin 16.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TCTAGCCGGCGCAATGAGGTC	0.557													A	131371238	G	A	131371238	3	1	55	1	0	0	0	0	1	0	0	0	15116	1087	38	1	4711	1	SPTAN1	9	131371238	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	85306	131371238	9842193	850	42198											
C9orf50	375759	broad.mit.edu	37	chr9	132375517	132375517	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaaaggtagccctgtgTcttctgggtggacctggggg	16	9	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:132375517T>A	uc004byc.3	-	6	1259	c.1057A>T	c.(1057-1059)ACA>TCA	p.T353S	C9orf50_uc004byb.3_RNA	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN	hypothetical protein LOC375759	353										ovary(1)|central_nervous_system(1)	2		Ovarian(14;0.00556)				TAGCCCTGTGTCTTCTGGGTG	0.637													A	132375517	T	A	132375517	3	1	55	1	0	0	0	0	1	0	0	0	2487	1667	58	5	246	5	C9orf50	9	132375517	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	1004279	132375517	8837914	851	42199											
ASS1	445	broad.mit.edu	37	chr9	133355186	133355186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgtacctgaacgaagtcGcgtgagtgtctgcagccctg	12	11	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:133355186G>A	uc004bzm.2	+	11	1128	c.772G>A	c.(772-774)GCG>ACG	p.A258T	ASS1_uc004bzn.2_Missense_Mutation_p.A258T|ASS1_uc010mza.2_Missense_Mutation_p.A334T|ASS1_uc004bzo.2_Missense_Mutation_p.A239T|ASS1_uc010mzb.2_Missense_Mutation_p.A296T|ASS1_uc004bzp.2_Missense_Mutation_p.A258T|ASS1_uc010mzc.2_Missense_Mutation_p.A258T	NM_000050	NP_000041	P00966	ASSY_HUMAN	argininosuccinate synthetase 1	258					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GAACGAAGTCGCGTGAGTGTC	0.617													A	133355186	G	A	133355186	3	1	55	1	0	0	0	0	1	0	0	0	1061	1101	38	1	806	1	ASS1	9	133355186	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	979669	133355186	7858245	852	42200											
NUP214	8021	broad.mit.edu	37	chr9	134072669	134072671	+	In_Frame_Del	DEL	CTT	CTT	-													atctggtgggggaagcaaacCttcttatgaggccattcctg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:134072668_134072670CCTT>C	uc004cag.3	+	28	3898_3900	c.3787_3789CCTT>C	c.(3787-3789)cct>C	p.P1263del	NUP214_uc004cah.3_In_Frame_Del_p.P1253del|NUP214_uc004cai.3_In_Frame_Del_p.P693del|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_In_Frame_Del_p.P89del|NUP214_uc011mcf.1_In_Frame_Del_p.P40del|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1263	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GGGAAGCAAACCTTCTTATGAGG	0.522			T	"DEK, SET, ABL1"	"AML, T-ALL"								-	134072671	CTT	-	134072669	7	5	55	1	0	1	0	1	0	0	0	0	10762	681	24	0	3902	0	NUP214	9	134072669	In_Frame_Del	DEL	CTT	TCGA-BR-7851-01A-11D-2201-08	717483	134072669	7140762	853	42201											
BAT2L1	84726	broad.mit.edu	37	chr9	134357808	134357808	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcgttgacttgagtgccgaGtctcgggagtcgtctgcgac	16	10	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:134357808G>C	uc004can.3	+	20	5089	c.5034G>C	c.(5032-5034)GAG>GAC	p.E1678D	BAT2L1_uc004cao.3_Missense_Mutation_p.E1035D|BAT2L1_uc004cap.3_5'Flank	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1678							protein binding				0						TGAGTGCCGAGTCTCGGGAGT	0.587													C	134357808	G	C	134357808	3	2	55	1	0	0	0	0	1	0	0	0	1320	1020	36	5	5112	5	BAT2L1	9	134357808	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	285139	134357808	6855623	854	42202											
GTF3C5	9328	broad.mit.edu	37	chr9	135919198	135919198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacaaggtgctcatgctcCggcccgagaaggaggccttt	13	11	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:135919198C>T	uc004cci.3	+	3	794	c.457C>T	c.(457-459)CGG>TGG	p.R153W	GTF3C5_uc010mzz.2_Missense_Mutation_p.R28W|GTF3C5_uc004ccj.3_Missense_Mutation_p.R153W	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	153						transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GCTCATGCTCCGGCCCGAGAA	0.587													T	135919198	C	T	135919198	3	4	55	1	0	0	0	0	1	0	0	0	6876	643	23	1	467	1	GTF3C5	9	135919198	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1561390	135919198	5294233	855	42203											
ADAMTS13	11093	broad.mit.edu	37	chr9	136321690	136321690	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttgctgctttggggccgGctcacctggaggaagatgtg	16	8	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:136321690G>A	uc004cdv.3	+	27	4185	c.3741G>A	c.(3739-3741)CGG>CGA	p.R1247R	ADAMTS13_uc004cdp.3_Silent_p.R418R|ADAMTS13_uc004cdt.1_Silent_p.R1191R|ADAMTS13_uc004cdu.1_Silent_p.R1160R|ADAMTS13_uc004cdw.3_Silent_p.R1191R|ADAMTS13_uc004cdx.3_Silent_p.R1160R|ADAMTS13_uc004cdz.3_Silent_p.R917R|ADAMTS13_uc004cea.1_Silent_p.R43R|ADAMTS13_uc004ceb.3_Silent_p.R43R	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1247	CUB 1.				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)		TTTGGGGCCGGCTCACCTGGA	0.557													A	136321690	G	A	136321690	2	1	55	1	0	0	0	0	0	0	0	1	258	1190	42	2		2	ADAMTS13	9	136321690	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	402492	136321690	4891741	856	42204											
DBH	1621	broad.mit.edu	37	chr9	136501526	136501526	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcgctgggccagcctgccCggccccagcatgcgggaggc	16	16	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:136501526C>T	uc004cel.2	+	1	42	c.33C>T	c.(31-33)CCC>CCT	p.P11P		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	11	Cytoplasmic (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCAGCCTGCCCGGCCCCAGCA	0.672													T	136501526	C	T	136501526	2	4	55	1	0	0	0	0	0	0	0	1	4250	639	23	1		1	DBH	9	136501526	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	179836	136501526	4711905	857	42205											
FCN2	2220	broad.mit.edu	37	chr9	137779089	137779089	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatcttaacaccggaaattGtgctgtgatgtttcagggag	12	6	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:137779089G>T	uc004cfg.1	+	8	780	c.770G>T	c.(769-771)TGT>TTT	p.C257F	FCN2_uc004cfh.1_Missense_Mutation_p.C219F	NM_004108	NP_004099	Q15485	FCN2_HUMAN	ficolin 2 isoform a precursor	257	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			large_intestine(1)	1		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		ACCGGAAATTGTGCTGTGATG	0.498													T	137779089	G	T	137779089	3	4	55	1	0	0	0	0	1	0	0	0	5792	1377	48	5	800	5	FCN2	9	137779089	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1277563	137779089	3434342	858	42206											
KIAA0649	9858	broad.mit.edu	37	chr9	138376418	138376418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaatgggaggcctttggccCgccagggagctgtaggttcc	15	11	0	0	rs150799430		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:138376418C>T	uc004cfr.1	+	4	611	c.62C>T	c.(61-63)CCG>CTG	p.P21L		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	21						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		GCCTTTGGCCCGCCAGGGAGC	0.627													T	138376418	C	T	138376418	3	4	55	1	0	0	0	0	1	0	0	0	8187	652	23	1	64	1	KIAA0649	9	138376418	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	597329	138376418	2837013	859	42207											
FAM69B	138311	broad.mit.edu	37	chr9	139617653	139617653	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcatggcgcctggcacgcGgccgcccttccacccctgtt	11	20	0	0	rs148678023	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:139617653G>A	uc004cik.2	+	5	817	c.723G>A	c.(721-723)GCG>GCA	p.A241A	FAM69B_uc004cil.2_Silent_p.A154A|SNHG7_uc004cim.2_Intron	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	hypothetical protein LOC138311	241	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		CCTGGCACGCGGCCGCCCTTC	0.706													A	139617653	G	A	139617653	2	1	55	1	0	0	0	0	0	0	0	1	5603	1103	39	1		1	FAM69B	9	139617653	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1241235	139617653	1595778	860	42208											
PNPLA7	375775	broad.mit.edu	37	chr9	140438216	140438216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtcctcttcctggcccGctgccggggcagggcagtgt	15	14	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:140438216G>A	uc004cnf.2	-	4	587	c.250C>T	c.(250-252)CGG>TGG	p.R84W	PNPLA7_uc010ncj.1_Missense_Mutation_p.R109W	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	84					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TTCCTGGCCCGCTGCCGGGGC	0.637													A	140438216	G	A	140438216	3	1	55	1	0	0	0	0	1	0	0	0	12170	1086	38	1	3827	1	PNPLA7	9	140438216	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	820563	140438216	775215	861	42209											
CACNA1B	774	broad.mit.edu	37	chr9	140846745	140846745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaaacgatgcggccggcaAcacctggaactggctctact	11	13	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:140846745A>G	uc004cog.2	+	7	1131	c.986A>G	c.(985-987)AAC>AGC	p.N329S		NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	329	I.|Extracellular (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCGGCCGGCAACACCTGGAAC	0.592													G	140846745	A	G	140846745	3	3	55	1	0	0	0	0	1	0	0	0	2539	43	2	3	1012	3	CACNA1B	9	140846745	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	408529	140846745	366686	862	42210											
DIP2C	22982	broad.mit.edu	37	chr10	429975	429975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcacttacaggggttcGcgccgtccgccactatcagc	9	17	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:429975G>A	uc001ifp.2	-	16	1958	c.1868C>T	c.(1867-1869)GCG>GTG	p.A623V	DIP2C_uc009xhj.1_Missense_Mutation_p.A319V	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	623						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACAGGGGTTCGCGCCGTCCGC	0.507													A	429975	G	A	429975	3	1	55	1	0	0	0	0	1	0	0	0	4529	1087	38	1	2890	1	DIP2C	10	429975	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08		429975	135104772	863	42211											
WDR37	22884	broad.mit.edu	37	chr10	1149661	1149661	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctcaagagccaccagggCgtggtcatcgcctccgactg	11	16	2	1	rs12571177		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:1149661C>T	uc001igf.1	+	10	1019	c.846C>T	c.(844-846)GGC>GGT	p.G282G	WDR37_uc009xhm.1_Silent_p.G283G|WDR37_uc009xhn.1_RNA|WDR37_uc001igg.1_RNA	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	282	WD 3.										0		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GCCACCAGGGCGTGGTCATCG	0.647													T	1149661	C	T	1149661	2	4	55	1	0	0	0	0	0	0	0	1	17288	755	27	1		1	WDR37	10	1149661	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	719686	1149661	134385086	864	42212											
PFKP	5214	broad.mit.edu	37	chr10	3172106	3172106	+	Frame_Shift_Del	DEL	G	G	-													tgtggctacctggccaacatGggggggctcgcggccggagc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:3172105_3172105TG>T	uc001igp.3	+	16	1854	c.1778_1778TG>T	c.(1777-1779)atgfs	p.M593fs	PFKP_uc001igq.3_Frame_Shift_Del_p.M585fs|PFKP_uc009xhr.3_Frame_Shift_Del_p.M555fs|PFKP_uc009xhs.1_Frame_Shift_Del_p.M377fs|PFKP_uc009xht.3_Frame_Shift_Del_p.M331fs|PFKP_uc009xhu.3_Frame_Shift_Del_p.M99fs	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	593					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTGGCCAACATGGGGGGGCTC	0.637													-	3172106	G	-	3172106	7	5	55	1	0	1	0	1	0	0	0	0	11766	1348	47	0	1845	0	PFKP	10	3172106	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	2022445	3172106	132362641	865	42213											
OPTN	10133	broad.mit.edu	37	chr10	13151192	13151192	+	Frame_Shift_Del	DEL	C	C	-													gtgaaagcacaggaaatggaCccccccacctggcccaccca							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:13151191_13151191AC>A	uc001ilu.1	+	3	507	c.69_69AC>A	c.(67-69)ggafs	p.G23fs	OPTN_uc001ilv.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ilw.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ilx.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ily.1_Frame_Shift_Del_p.G23fs|OPTN_uc010qbr.1_5'UTR	NM_001008213	NP_068815	Q96CV9	OPTN_HUMAN	Homo sapiens optineurin (OPTN), transcript variant 4, mRNA.	23					Golgi ribbon formation|Golgi to plasma membrane protein transport|cell death|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CAGGAAATGGACCCCCCCACC	0.562													-	13151192	C	-	13151192	7	5	55	1	0	1	0	1	0	0	0	0	10889	507	18	0	72	0	OPTN	10	13151192	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	9979086	13151192	122383555	866	42214											
UCMA	221044	broad.mit.edu	37	chr10	13276241	13276241	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagcaagacagcaggacGgcctgtctccaagtcatctt	11	11	3	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:13276241G>A	uc001imd.2	-	1	91	c.18C>T	c.(16-18)GCC>GCT	p.A6A		NM_145314	NP_660357	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix	6						proteinaceous extracellular matrix					0						ACAGCAGGACGGCCTGTCTCC	0.582													A	13276241	G	A	13276241	2	1	55	1	0	0	0	0	0	0	0	1	16923	1103	39	1		1	UCMA	10	13276241	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	125049	13276241	122258506	867	42215											
SEPHS1	22929	broad.mit.edu	37	chr10	13370368	13370368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgtcctgttgagcctcGccatgttcatcatcgcctcc	7	16	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:13370368G>A	uc001imk.2	-	7	1093	c.734C>T	c.(733-735)GCG>GTG	p.A245V	SEPHS1_uc001imh.2_Missense_Mutation_p.A169V|SEPHS1_uc010qbs.1_Missense_Mutation_p.A197V|SEPHS1_uc001imi.2_Missense_Mutation_p.A245V|SEPHS1_uc001imj.2_Missense_Mutation_p.A245V|SEPHS1_uc010qbt.1_Missense_Mutation_p.A178V	NM_012247	NP_036379	P49903	SPS1_HUMAN	selenophosphate synthetase 1	245					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			skin(1)	1						GTTGAGCCTCGCCATGTTCAT	0.368													A	13370368	G	A	13370368	3	1	55	1	0	0	0	0	1	0	0	0	14054	1087	38	1	456	1	SEPHS1	10	13370368	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	94127	13370368	122164379	868	42216											
FAM107B	83641	broad.mit.edu	37	chr10	14816291	14816291	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtctggggatggaagcGtgaaacaccactgcttcaca	13	9	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:14816291G>A	uc001ina.1	-	1	606	c.372C>T	c.(370-372)CAC>CAT	p.H124H	FAM107B_uc010qbu.1_RNA	NM_031453	NP_113641	Q9H098	F107B_HUMAN	hypothetical protein LOC83641	Error:Variant_position_missing_in_Q9H098_after_alignment										breast(4)	4						GGATGGAAGCGTGAAACACCA	0.582													A	14816291	G	A	14816291	2	1	55	1	0	0	0	0	0	0	0	1	5390	1136	40	1		1	FAM107B	10	14816291	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1445923	14816291	120718456	869	42217											
CUBN	8029	broad.mit.edu	37	chr10	17146512	17146512	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacaagttcctccattcaaAcaggggttgctcaaacactc	6	13	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:17146512A>G	uc001ioo.2	-	12	1375	c.1323T>C	c.(1321-1323)TGT>TGC	p.C441C		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	441	EGF-like 7; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCCATTCAAACAGGGGTTGC	0.463													G	17146512	A	G	17146512	2	3	55	1	0	0	0	0	0	0	0	1	4051	41	2	3		3	CUBN	10	17146512	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	2330221	17146512	118388235	870	42218											
VIM	7431	broad.mit.edu	37	chr10	17275857	17275857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacctcacggctgccctgcGtgacgtacgtcagcaatatg	11	13	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:17275857G>A	uc001iou.2	+	5	1222	c.809G>A	c.(808-810)CGT>CAT	p.R270H	VIM_uc001iov.1_Missense_Mutation_p.R270H|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.R270H|VIM_uc001ioy.1_Missense_Mutation_p.R270H|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.R270H|VIM_uc001ipc.1_Missense_Mutation_p.R270H	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	270	Rod.|Coil 2.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GCTGCCCTGCGTGACGTACGT	0.498													A	17275857	G	A	17275857	3	1	55	1	0	0	0	0	1	0	0	0	17163	1145	40	1	823	1	VIM	10	17275857	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	129345	17275857	118258890	871	42219											
NEBL	10529	broad.mit.edu	37	chr10	21106597	21106597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagaaattgcagttccccGttgaagttctcccttatatt	6	10	2	2	rs114875104	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:21106597G>A	uc001iqi.2	-	21	2477	c.2080C>T	c.(2080-2082)CGG>TGG	p.R694W	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	694	Nebulin 20.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						GCAGTTCCCCGTTGAAGTTCT	0.383													A	21106597	G	A	21106597	3	1	55	1	0	0	0	0	1	0	0	0	10303	1144	40	1	996	1	NEBL	10	21106597	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3830740	21106597	114428150	872	42220											
NEBL	10529	broad.mit.edu	37	chr10	21108359	21108359	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagaaacgacttgccgcactCagctgctcctggtttcgcct	9	15	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:21108359C>T	uc001iqi.2	-	20	2446	c.2049G>A	c.(2047-2049)CTG>CTA	p.L683L	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	683	Nebulin 19.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						TTGCCGCACTCAGCTGCTCCT	0.373													T	21108359	C	T	21108359	2	4	55	1	0	0	0	0	0	0	0	1	10303	813	29	4		4	NEBL	10	21108359	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1762	21108359	114426388	873	42221											
ACBD5	91452	broad.mit.edu	37	chr10	27499857	27499857	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgcttgacttcaccttttcCttcaactgcaaccacctgca	4	15	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:27499857C>A	uc010qdp.1	-	9	1281	c.1090G>T	c.(1090-1092)GGA>TGA	p.G364*	ACBD5_uc010qdm.1_Nonsense_Mutation_p.G362*|ACBD5_uc010qdn.1_Nonsense_Mutation_p.G255*|ACBD5_uc010qdo.1_Nonsense_Mutation_p.G187*|ACBD5_uc001ito.2_Nonsense_Mutation_p.G329*|ACBD5_uc001itp.2_Nonsense_Mutation_p.G255*|ACBD5_uc001itq.2_Nonsense_Mutation_p.G255*|ACBD5_uc001itr.1_Nonsense_Mutation_p.G153*	NM_145698	NP_663736	Q5T8D3	ACBD5_HUMAN	acyl-Coenzyme A binding domain containing 5	373					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding				0						TCACCTTTTCCTTCAACTGCA	0.468													A	27499857	C	A	27499857	4	1	55	1	0	0	0	0	0	1	0	0	125	690	24	5	507	5	ACBD5	10	27499857	Nonsense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	6391498	27499857	108034890	874	42222											
MPP7	143098	broad.mit.edu	37	chr10	28378678	28378678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtatgtgggtacgtcagCtgtgtcgtactgatcactct	11	9	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:28378678C>T	uc001iua.1	-	14	1449	c.1045G>A	c.(1045-1047)GCT>ACT	p.A349T	MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.A349T|MPP7_uc009xla.2_Missense_Mutation_p.A349T|MPP7_uc010qdv.1_RNA	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	palmitoylated membrane protein 7	349					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			ovary(1)	1						GGTACGTCAGCTGTGTCGTAC	0.383													T	28378678	C	T	28378678	3	4	55	1	0	0	0	0	1	0	0	0	9739	797	28	2	709	2	MPP7	10	28378678	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	878821	28378678	107156069	875	42223											
ZNF438	220929	broad.mit.edu	37	chr10	31134324	31134324	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgagtccccttgcttcCtgggaaggtcccttcttgta	9	13	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:31134324C>A	uc010qdz.1	-	8	2488	c.2053G>T	c.(2053-2055)GGA>TGA	p.G685*	ZNF438_uc001ivn.2_Nonsense_Mutation_p.G636*|ZNF438_uc010qdy.1_Nonsense_Mutation_p.G675*|ZNF438_uc001ivo.3_Nonsense_Mutation_p.G249*|ZNF438_uc009xlg.2_Nonsense_Mutation_p.G685*|ZNF438_uc001ivp.3_Nonsense_Mutation_p.G675*|ZNF438_uc010qea.1_Nonsense_Mutation_p.G685*|ZNF438_uc010qeb.1_Nonsense_Mutation_p.G685*	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	685					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				CCCTTGCTTCCTGGGAAGGTC	0.498													A	31134324	C	A	31134324	4	1	55	1	0	0	0	0	0	1	0	0	17907	690	24	5	437	5	ZNF438	10	31134324	Nonsense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2755646	31134324	104400423	876	42224											
C10orf68	79741	broad.mit.edu	37	chr10	33000652	33000652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacttctgaaggagaaggaCgtagcagtaagtataatgat	11	4	1	3	rs34466233		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:33000652C>T	uc001iwn.3	+	7	957	c.484C>T	c.(484-486)CGT>TGT	p.R162C	C10orf68_uc001iwl.1_Missense_Mutation_p.R170C|C10orf68_uc001iwm.1_Missense_Mutation_p.R138C|C10orf68_uc010qei.1_Missense_Mutation_p.R89C	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	162										skin(2)|ovary(1)	3						AGGAGAAGGACGTAGCAGTAA	0.299													T	33000652	C	T	33000652	3	4	55	1	0	0	0	0	1	0	0	0	1613	536	19	1	502	1	C10orf68	10	33000652	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1866328	33000652	102534095	877	42225											
FZD8	8325	broad.mit.edu	37	chr10	35928685	35928685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggcctcccagcgcgggCggttgtgctgctcgtagaag	17	12	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:35928685C>T	uc001iyz.1	-	1	1678	c.1673G>A	c.(1672-1674)CGC>CAC	p.R558H		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	558	Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0						CCAGCGCGGGCGGTTGTGCTG	0.667													T	35928685	C	T	35928685	3	4	55	1	0	0	0	0	1	0	0	0	6136	768	27	1	415	1	FZD8	10	35928685	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2928033	35928685	99606062	878	42226											
PPYR1	5540	broad.mit.edu	37	chr10	47087154	47087154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccttcatccagtgcatgtCggtgacggtctccatcctct	10	14	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:47087154C>T	uc001jee.2	+	3	790	c.371C>T	c.(370-372)TCG>TTG	p.S124L	ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Missense_Mutation_p.S124L	NM_005972	NP_005963	P50391	NPY4R_HUMAN	pancreatic polypeptide receptor 1	124	Helical; Name=3; (Potential).				blood circulation|digestion|feeding behavior	integral to plasma membrane				ovary(1)|skin(1)	2						CAGTGCATGTCGGTGACGGTC	0.592													T	47087154	C	T	47087154	3	4	55	1	0	0	0	0	1	0	0	0	12416	893	31	1	373	1	PPYR1	10	47087154	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	11158469	47087154	88447593	879	42227											
GDF10	2662	broad.mit.edu	37	chr10	48429172	48429172	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgtagggcgcatagggGctgggccggggcacccccgg	20	11	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:48429172G>A	uc001jfb.2	-	2	1170	c.714C>T	c.(712-714)AGC>AGT	p.S238S	GDF10_uc009xnp.2_Silent_p.S237S|GDF10_uc009xnq.1_Silent_p.S238S	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	238					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2						GCGCATAGGGGCTGGGCCGGG	0.667													A	48429172	G	A	48429172	2	1	55	1	0	0	0	0	0	0	0	1	6311	1194	42	2		2	GDF10	10	48429172	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1342018	48429172	87105575	880	42228											
SLC18A3	6572	broad.mit.edu	37	chr10	50819158	50819158	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagagcgaagacgtgaagatCggggtgctgtttgcttccaa	15	7	0	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:50819158C>T	uc001jhw.2	+	1	812	c.372C>T	c.(370-372)ATC>ATT	p.I124I	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	124	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						ACGTGAAGATCGGGGTGCTGT	0.652													T	50819158	C	T	50819158	2	4	55	1	0	0	0	0	0	0	0	1	14427	874	31	1		1	SLC18A3	10	50819158	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2389986	50819158	84715589	881	42229											
PCDH15	65217	broad.mit.edu	37	chr10	55973753	55973754	+	Missense_Mutation	DNP	AA	AA	GC													tttactggctccaggagactAagttctgctgtcctaggatg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:55973753_55973754AA>GC	uc001jju.1	-	10	1435_1436	c.1040_1041TT>GC	c.(1039-1041)CTT>CGC	p.L347R	PCDH15_uc010qhq.1_Missense_Mutation_p.L352R|PCDH15_uc010qhr.1_Missense_Mutation_p.L347R|PCDH15_uc010qhs.1_Missense_Mutation_p.L352R|PCDH15_uc010qht.1_Missense_Mutation_p.L347R|PCDH15_uc010qhu.1_Missense_Mutation_p.L347R|PCDH15_uc001jjv.1_Missense_Mutation_p.L325R|PCDH15_uc010qhv.1_Missense_Mutation_p.L347R|PCDH15_uc010qhw.1_Missense_Mutation_p.L310R|PCDH15_uc010qhx.1_Missense_Mutation_p.L347R|PCDH15_uc010qhy.1_Missense_Mutation_p.L352R|PCDH15_uc010qhz.1_Missense_Mutation_p.L347R|PCDH15_uc010qia.1_Missense_Mutation_p.L325R|PCDH15_uc010qib.1_Missense_Mutation_p.L325R|PCDH15_uc001jjw.2_Missense_Mutation_p.L347R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	347	Cadherin 3.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CCAGGAGACTAAGTTCTGCTGT	0.366										HNSCC(58;0.16)			GC	55973754	AA	GC	55973753	3	3	55	1	0	0	0	0	1	0	0	0	11511	349	13	3	6566	3	PCDH15	10	55973753	Missense_Mutation	DNP	AA	TCGA-BR-7851-01A-11D-2201-08	5154595	55973753	79560994	882	42230											
PCDH15	65217	broad.mit.edu	37	chr10	56077174	56077174	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagtggtggtggtggttcGcctctcattcagattttggg	16	6	2	2	rs111033260	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:56077174G>A	uc001jju.1	-	8	1128	c.733C>T	c.(733-735)CGA>TGA	p.R245*	PCDH15_uc010qhq.1_Nonsense_Mutation_p.R250*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.R245*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.R250*|PCDH15_uc010qht.1_Nonsense_Mutation_p.R245*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.R245*|PCDH15_uc001jjv.1_Nonsense_Mutation_p.R223*|PCDH15_uc010qhv.1_Nonsense_Mutation_p.R245*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.R208*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.R245*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.R250*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.R245*|PCDH15_uc010qia.1_Nonsense_Mutation_p.R223*|PCDH15_uc010qib.1_Nonsense_Mutation_p.R223*|PCDH15_uc001jjw.2_Nonsense_Mutation_p.R245*	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	245	Extracellular (Potential).|Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				GTGGTGGTTCGCCTCTCATTC	0.413										HNSCC(58;0.16)			A	56077174	G	A	56077174	4	1	55	1	0	0	0	0	0	1	0	0	11511	1095	38	1	6882	1	PCDH15	10	56077174	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	103421	56077174	79457573	883	42231											
BICC1	80114	broad.mit.edu	37	chr10	60273020	60273020	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacgacttggtcgccggggcGaccctgcacagcccggagtg	16	14	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:60273020G>A	uc001jki.1	+	1	117	c.117G>A	c.(115-117)GCG>GCA	p.A39A		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	39					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						TCGCCGGGGCGACCCTGCACA	0.677													A	60273020	G	A	60273020	2	1	55	1	0	0	0	0	0	0	0	1	1427	1045	37	1		1	BICC1	10	60273020	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	4195846	60273020	75261727	884	42232											
ARID5B	84159	broad.mit.edu	37	chr10	63852118	63852118	+	Frame_Shift_Del	DEL	A	A	-													ccatgaccatgtcaggccctAaaaaataccctgaatcgctt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:63852117_63852117TA>T	uc001jlt.2	+	9	3351	c.2895_2895TA>T	c.(2893-2895)cctfs	p.P965fs	ARID5B_uc001jlu.2_Frame_Shift_Del_p.P722fs	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	965					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGTCAGGCCCTAAAAAATACC	0.517													-	63852118	A	-	63852118	7	5	55	1	0	1	0	1	0	0	0	0	922	363	13	0	2934	0	ARID5B	10	63852118	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	3579098	63852118	71682629	885	42233											
HKDC1	80201	broad.mit.edu	37	chr10	71007271	71007271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggcggccatcctgacacGcctccgggagaacaagaagg	13	13	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:71007271G>A	uc001jpf.3	+	9	1320	c.1187G>A	c.(1186-1188)CGC>CAC	p.R396H	HKDC1_uc010qje.1_Missense_Mutation_p.R259H	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	396					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5						ATCCTGACACGCCTCCGGGAG	0.612													A	71007271	G	A	71007271	3	1	55	1	0	0	0	0	1	0	0	0	7193	1087	38	1	1221	1	HKDC1	10	71007271	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	7155153	71007271	64527476	886	42234											
HKDC1	80201	broad.mit.edu	37	chr10	71018587	71018587	+	Frame_Shift_Del	DEL	G	G	-													aggaacatcgagatggtggaGgggggtgaagggaagatgtg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:71018586_71018586AG>A	uc001jpf.4	+	14	2220	c.2087_2087AG>A	c.(2086-2088)gagfs	p.E696fs	HKDC1_uc010qje.2_Frame_Shift_Del_p.E559fs|HKDC1_uc009xqb.3_Non-coding_Transcript	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	696					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GAGATGGTGGAGGGGGGTGAA	0.498													-	71018587	G	-	71018587	7	5	55	1	0	1	0	1	0	0	0	0	7193	991	35	0	2146	0	HKDC1	10	71018587	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	11316	71018587	64516160	887	42235											
TACR2	6865	broad.mit.edu	37	chr10	71175863	71175863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagccagcgccagattgaCgatgaagtagttggtgactg	14	8	1	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:71175863C>T	uc001jpn.2	-	1	812	c.217G>A	c.(217-219)GTC>ATC	p.V73I		NM_001057	NP_001048	P21452	NK2R_HUMAN	tachykinin receptor 2	73	Helical; Name=2; (Potential).				excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			prostate(1)	1					Clonidine(DB00575)|Octreotide(DB00104)	GCCAGATTGACGATGAAGTAG	0.572													T	71175863	C	T	71175863	3	4	55	1	0	0	0	0	1	0	0	0	15503	536	19	1	999	1	TACR2	10	71175863	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	157276	71175863	64358884	888	42236											
COL13A1	1305	broad.mit.edu	37	chr10	71562436	71562436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggagcagcaaatggagaCggctattttgggacgagtca	16	7	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:71562436C>T	uc001jpr.1	+	1	793	c.257C>T	c.(256-258)ACG>ATG	p.T86M	COL13A1_uc001jqj.1_Missense_Mutation_p.T86M|COL13A1_uc001jps.1_Missense_Mutation_p.T86M|COL13A1_uc001jpt.1_Missense_Mutation_p.T86M|COL13A1_uc001jpu.1_Missense_Mutation_p.T86M|COL13A1_uc001jpv.1_Missense_Mutation_p.T86M|COL13A1_uc001jpx.1_Missense_Mutation_p.T86M|COL13A1_uc001jpw.1_Missense_Mutation_p.T86M|COL13A1_uc001jpy.1_Missense_Mutation_p.T86M|COL13A1_uc001jpz.1_Missense_Mutation_p.T86M|COL13A1_uc001jqa.1_Missense_Mutation_p.T86M|COL13A1_uc001jqc.1_Missense_Mutation_p.T86M|COL13A1_uc001jqb.1_Missense_Mutation_p.T86M|COL13A1_uc001jql.2_Missense_Mutation_p.T86M|COL13A1_uc001jqd.1_Missense_Mutation_p.T86M|COL13A1_uc001jqe.1_Missense_Mutation_p.T86M|COL13A1_uc001jqf.1_Missense_Mutation_p.T86M|COL13A1_uc001jqg.1_Missense_Mutation_p.T86M|COL13A1_uc001jqh.1_Missense_Mutation_p.T86M|COL13A1_uc001jqi.1_Missense_Mutation_p.T86M	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN	alpha 1 type XIII collagen isoform 1	86	Extracellular (Potential).|Nonhelical region 1 (NC1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)	CAAATGGAGACGGCTATTTTG	0.652													T	71562436	C	T	71562436	3	4	55	1	0	0	0	0	1	0	0	0	3670	536	19	1	259	1	COL13A1	10	71562436	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	386573	71562436	63972311	889	42237											
KIAA1274	27143	broad.mit.edu	37	chr10	72285747	72285747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccagcagacggtctcgGcaggcaccccatttgagggc	13	15	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:72285747G>A	uc001jrd.3	+	2	321	c.40G>A	c.(40-42)GCA>ACA	p.A14T		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	14										ovary(2)|central_nervous_system(1)	3						GACGGTCTCGGCAGGCACCCC	0.597													A	72285747	G	A	72285747	3	1	55	1	0	0	0	0	1	0	0	0	8220	1203	42	2	42	2	KIAA1274	10	72285747	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	723311	72285747	63249000	890	42238											
PRF1	5551	broad.mit.edu	37	chr10	72358862	72358862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggcgggctgggtggaggcGttgaagtggtggggcaggtc	23	5	0	1	rs141130900	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:72358862G>A	uc009xqg.2	-	3	776	c.615C>T	c.(613-615)AAC>AAT	p.N205N	PRF1_uc001jrf.3_Silent_p.N205N	NM_001083116	NP_001076585	P14222	PERF_HUMAN	perforin 1 precursor	205	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						GGGTGGAGGCGTTGAAGTGGT	0.632			M			various leukaemia|lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial_Hemophagocytic_Lymphohistiocytosis				A	72358862	G	A	72358862	2	1	55	1	0	0	0	0	0	0	0	1	12478	1136	40	1		1	PRF1	10	72358862	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	73115	72358862	63175885	891	42239											
PSAP	5660	broad.mit.edu	37	chr10	73578385	73578385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctactcacattgcactgggCtgctgtctctgtgttctggc	11	12	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:73578385C>T	uc001jsm.2	-	13	1632	c.1528G>A	c.(1528-1530)GCC>ACC	p.A510T	PSAP_uc001jsl.2_Missense_Mutation_p.A234T	NM_002778	NP_002769	P07602	SAP_HUMAN	prosaposin isoform a preproprotein	510	Saposin A-type 2.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			ovary(1)	1						TTGCACTGGGCTGCTGTCTCT	0.493													T	73578385	C	T	73578385	3	4	55	1	0	0	0	0	1	0	0	0	12643	797	28	2	54	2	PSAP	10	73578385	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1219523	73578385	61956362	892	42240											
DNAJB12	54788	broad.mit.edu	37	chr10	74095662	74095662	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatatctgtgtcgccaaagTagcgtgcccggtacagcaag	11	11	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:74095662T>C	uc010qjv.1	-	8	1286	c.1136A>G	c.(1135-1137)TAC>TGC	p.Y379C	DNAJB12_uc001jsz.2_Missense_Mutation_p.Y379C|DNAJB12_uc001jta.2_Missense_Mutation_p.Y379C	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	345					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding				0						GTCGCCAAAGTAGCGTGCCCG	0.597													C	74095662	T	C	74095662	3	2	55	1	0	0	0	0	1	0	0	0	4617	1638	57	3	97	3	DNAJB12	10	74095662	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	517277	74095662	61439085	893	42241											
PPP3CB	5532	broad.mit.edu	37	chr10	75198132	75198132	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcctatccaaaccctttgcCtcttcaaaactgcagattct	3	14	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:75198132C>A	uc001jue.2	-	14	1578	c.1443G>T	c.(1441-1443)GAG>GAT	p.E481D	PPP3CB_uc001juf.2_Missense_Mutation_p.E482D|PPP3CB_uc001jug.2_Missense_Mutation_p.E472D|PPP3CB_uc010qkj.1_Missense_Mutation_p.E109D	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	481	Inhibitory domain.									skin(1)	1	Prostate(51;0.0119)					AACCCTTTGCCTCTTCAAAAC	0.393													A	75198132	C	A	75198132	3	1	55	1	0	0	0	0	1	0	0	0	12398	680	24	5	135	5	PPP3CB	10	75198132	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1102470	75198132	60336615	894	42242											
KCNMA1	3778	broad.mit.edu	37	chr10	78647231	78647231	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcagaagatcaggtccgtCggcacgagctcaaactcata	10	11	3	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:78647231C>T	uc001jxn.2	-	28	3681	c.3504G>A	c.(3502-3504)CCG>CCA	p.P1168P	KCNMA1_uc001jxj.2_Silent_p.P1114P|KCNMA1_uc001jxk.1_Silent_p.P786P|KCNMA1_uc009xrt.1_Silent_p.P959P|KCNMA1_uc001jxl.1_Silent_p.P793P|KCNMA1_uc001jxo.2_Silent_p.P1151P|KCNMA1_uc001jxm.2_Silent_p.P1110P|KCNMA1_uc001jxq.2_Silent_p.P1140P|uc001jxp.2_5'Flank	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1168	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCAGGTCCGTCGGCACGAGCT	0.542													T	78647231	C	T	78647231	2	4	55	1	0	0	0	0	0	0	0	1	8073	871	31	1		1	KCNMA1	10	78647231	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3449099	78647231	56887516	895	42243											
KCNMA1	3778	broad.mit.edu	37	chr10	78872132	78872132	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggttactcaccaaatggAtgaacccggctgcagtcagc	10	12	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:78872132A>G	uc001jxn.2	-	7	1130	c.953T>C	c.(952-954)ATC>ACC	p.I318T	KCNMA1_uc001jxj.2_Missense_Mutation_p.I318T|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Missense_Mutation_p.I138T|KCNMA1_uc001jxl.1_5'Flank|KCNMA1_uc001jxo.2_Missense_Mutation_p.I318T|KCNMA1_uc001jxm.2_Missense_Mutation_p.I318T|KCNMA1_uc001jxq.2_Missense_Mutation_p.I318T	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	318	Helical; Name=Segment S5; (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CACCAAATGGATGAACCCGGC	0.453											OREG0020286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	78872132	A	G	78872132	3	3	55	1	0	0	0	0	1	0	0	0	8073	333	12	3	3017	3	KCNMA1	10	78872132	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	224901	78872132	56662615	896	42244											
POLR3A	11128	broad.mit.edu	37	chr10	79744971	79744971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctctttaatccggggcaCgcccagggtgatgttcatgg	13	10	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:79744971C>T	uc001jzn.2	-	24	3293	c.3199G>A	c.(3199-3201)GTG>ATG	p.V1067M		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	1067					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			ATCCGGGGCACGCCCAGGGTG	0.542													T	79744971	C	T	79744971	3	4	55	1	0	0	0	0	1	0	0	0	12228	536	19	1	1005	1	POLR3A	10	79744971	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	872839	79744971	55789776	897	42245											
EIF5AL1	143244	broad.mit.edu	37	chr10	81272647	81272647	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaactcataatatggatgTccccaacatcaaaaggaatg	7	9	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:81272647T>C	uc009xrx.2	+	1	291	c.242T>C	c.(241-243)GTC>GCC	p.V81A	uc010qls.1_5'Flank	NM_001099692	NP_001093162	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like	81					mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity				0	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AATATGGATGTCCCCAACATC	0.502													C	81272647	T	C	81272647	3	2	55	1	0	0	0	0	1	0	0	0	5043	1667	58	3	244	3	EIF5AL1	10	81272647	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	1527676	81272647	54262100	898	42246											
MAT1A	4143	broad.mit.edu	37	chr10	82036321	82036321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcgcacagggatgactgcGccattgtcctgcatgtactg	12	11	0	1	rs142189986		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:82036321G>A	uc001kbw.2	-	6	834	c.579C>T	c.(577-579)GGC>GGT	p.G193G		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	193					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GGATGACTGCGCCATTGTCCT	0.577													A	82036321	G	A	82036321	2	1	55	1	0	0	0	0	0	0	0	1	9329	1074	38	1		1	MAT1A	10	82036321	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	763674	82036321	53498426	899	42247											
NRG3	10718	broad.mit.edu	37	chr10	83635238	83635238	+	Frame_Shift_Del	DEL	C	C	-													gcggcgaaggggcggccgagCccccccgggagttacgctgt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:83635238delC	uc001kco.2	+	1	169	c.142delC	c.(142-144)CCCfs	p.P48fs	NRG3_uc010qlz.1_Frame_Shift_Del_p.P48fs|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	48	Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GGCGGCCGAGCCCCCCCGGGA	0.512													-	83635238	C	-	83635238	7	5	55	1	0	1	0	1	0	0	0	0	10649	739	26	0	144	0	NRG3	10	83635238	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	1598917	83635238	51899509	900	42248											
NRG3	10718	broad.mit.edu	37	chr10	83635584	83635584	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgcctgaccaccatcacgcGggcgcccactcgcttccccg	9	21	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:83635584G>T	uc001kco.2	+	1	515	c.488G>T	c.(487-489)CGG>CTG	p.R163L	NRG3_uc010qlz.1_Missense_Mutation_p.R163L|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	163	Ser/Thr-rich.|Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ACCATCACGCGGGCGCCCACT	0.597													T	83635584	G	T	83635584	3	4	55	1	0	0	0	0	1	0	0	0	10649	1116	39	5	490	5	NRG3	10	83635584	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	346	83635584	51899163	901	42249											
CDHR1	92211	broad.mit.edu	37	chr10	85972965	85972965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagatctggctcaagaattCcatccgctccctggatgccc	10	14	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:85972965C>T	uc001kcv.2	+	16	1901	c.1901C>T	c.(1900-1902)TCC>TTC	p.S634F	CDHR1_uc001kcw.2_Missense_Mutation_p.S634F|CDHR1_uc009xst.2_Missense_Mutation_p.S338F|CDHR1_uc001kcx.2_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	634	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						CTCAAGAATTCCATCCGCTCC	0.587													T	85972965	C	T	85972965	3	4	55	1	0	0	0	0	1	0	0	0	3118	855	30	4	1963	4	CDHR1	10	85972965	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2337381	85972965	49561782	902	42250											
PTEN	5728	broad.mit.edu	37	chr10	89653808	89653808	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccaaacattattgctatgGgatttcctgcagaaagactt	7	8	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:89653808G>T	uc001kfb.2	+	3	1137	c.106G>T	c.(106-108)GGA>TGA	p.G36*		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	36	Phosphatase tensin-type.		G -> R (in endometrial hyperplasia).|G -> E (in glioma).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(4)|p.G36E(4)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G36V(2)|p.G36*(1)|p.A34_G36del(1)|p.G36R(1)|p.G36fs*18(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATTGCTATGGGATTTCCTGC	0.284		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89653808	G	T	89653808	4	4	55	1	0	0	0	0	0	1	0	0	12738	1233	43	5	112	5	PTEN	10	89653808	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3680843	89653808	45880939	903	42251											
PTEN	5728	broad.mit.edu	37	chr10	89653842	89653842	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagacttgaaggcgtatacaGgaacaatattgatgatgtag	11	4	0	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:89653842G>T	uc001kfb.2	+	3	1171	c.140G>T	c.(139-141)AGG>ATG	p.R47M		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	47	Phosphatase tensin-type.		R -> G (in CD).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(4)|p.R47G(2)|p.Y27_N212>Y(2)|p.Y27fs*1(2)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGCGTATACAGGAACAATATT	0.289		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89653842	G	T	89653842	3	4	55	1	0	0	0	0	1	0	0	0	12738	1000	35	5	146	5	PTEN	10	89653842	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	34	89653842	45880905	904	42252											
PANK1	53354	broad.mit.edu	37	chr10	91359120	91359120	+	Frame_Shift_Del	DEL	T	T	-													ggttatcaaggcagtacggcTttttttgacacaattcagga							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:91359119_91359119CT>C	uc001kgp.2	-	2	1470	c.1200_1200AG>G	c.(1198-1200)aagfs	p.K400fs	PANK1_uc001kgn.2_Frame_Shift_Del_p.K175fs|PANK1_uc001kgo.2_Frame_Shift_Del_p.K175fs|PANK1_uc009xtu.2_Frame_Shift_Del_p.K202fs	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	Homo sapiens pantothenate kinase 1 (PANK1), transcript variant alpha, mRNA.	400					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	GGCAGTACGGCTTTTTTTGAC	0.433													-	91359120	T	-	91359120	7	5	55	1	0	1	0	1	0	0	0	0	11416	1609	56	0	617	0	PANK1	10	91359120	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	1705278	91359120	44175627	905	42253											
HTR7	3363	broad.mit.edu	37	chr10	92509172	92509172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgcggtagagtaaatcGtatagccaaagtcctggctg	11	10	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:92509172G>A	uc001kha.2	-	2	962	c.719C>T	c.(718-720)ACG>ATG	p.T240M	HTR7_uc001kgz.2_Missense_Mutation_p.T240M|HTR7_uc001khb.2_Missense_Mutation_p.T240M	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	240	Helical; Name=5; (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	AGAGTAAATCGTATAGCCAAA	0.473													A	92509172	G	A	92509172	3	1	55	1	0	0	0	0	1	0	0	0	7452	1145	40	1	736	1	HTR7	10	92509172	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1150052	92509172	43025575	906	42254											
CYP26A1	1592	broad.mit.edu	37	chr10	94834181	94834181	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatgtgcggcgcatcttgctCggagagcaccggctggtgtc	15	11	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:94834181C>T	uc001kil.2	+	2	351	c.306C>T	c.(304-306)CTC>CTT	p.L102L	CYP26A1_uc001kik.1_Silent_p.L33L|CYP26A1_uc001kim.1_Missense_Mutation_p.S7L	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	102					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				GCATCTTGCTCGGAGAGCACC	0.622													T	94834181	C	T	94834181	2	4	55	1	0	0	0	0	0	0	0	1	4155	871	31	1		1	CYP26A1	10	94834181	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2325009	94834181	40700566	907	42255											
PDE6C	5146	broad.mit.edu	37	chr10	95381766	95381766	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcacaaagcgctctacacGgttagatcatatctgaactg	7	10	4	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:95381766G>A	uc001kiu.3	+	4	939	c.801G>A	c.(799-801)ACG>ACA	p.T267T		NM_006204	NP_006195	P51160	PDE6C_HUMAN	phosphodiesterase 6C	267	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			ovary(2)|kidney(1)|skin(1)	4		Colorectal(252;0.123)				CGCTCTACACGGTTAGATCAT	0.393													A	95381766	G	A	95381766	2	1	55	1	0	0	0	0	0	0	0	1	11647	1103	39	1		1	PDE6C	10	95381766	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	547585	95381766	40152981	908	42256											
TM9SF3	56889	broad.mit.edu	37	chr10	98292921	98292921	+	Frame_Shift_Del	DEL	A	A	-													agatttagaggaagaataacAaaaaaacagatgcaacaaac							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:98292920_98292920CA>C	uc001kmm.4	-	9	1430	c.1213_1213TG>G	c.(1213-1215)gttfs	p.V405fs		NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	Homo sapiens transmembrane 9 superfamily member 3 (TM9SF3), mRNA.	405						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		GGAAGAATAACAAAAAAACAG	0.363													-	98292921	A	-	98292921	7	5	55	1	0	1	0	1	0	0	0	0	15976	127	5	0	581	0	TM9SF3	10	98292921	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	2911155	98292921	37241826	909	42257											
MORN4	118812	broad.mit.edu	37	chr10	99377012	99377012	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagccattaaagagcccAttctcaaaatgacccaggta	6	12	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:99377012A>G	uc001kob.3	-	3	406	c.135T>C	c.(133-135)AAT>AAC	p.N45N	PI4K2A_uc010qoy.1_Intron|MORN4_uc001koc.3_Silent_p.N103N|MORN4_uc001kod.3_3'UTR|MORN4_uc001koe.2_Silent_p.N45N|uc001kof.1_5'Flank	NM_178832	NP_849154	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	45	MORN 2.										0						TAAAGAGCCCATTCTCAAAAT	0.473													G	99377012	A	G	99377012	2	3	55	1	0	0	0	0	0	0	0	1	9710	214	8	3		3	MORN4	10	99377012	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1084091	99377012	36157735	910	42258											
MORN4	118812	broad.mit.edu	37	chr10	99379386	99379386	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccccactggagtaggTgaaggaaccttttgtcaggg	12	10	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:99379386T>C	uc001kob.3	-	2	296	c.25A>G	c.(25-27)ACC>GCC	p.T9A	PI4K2A_uc010qoy.1_Intron|MORN4_uc001koc.3_Intron|MORN4_uc001kod.3_Missense_Mutation_p.H99R|MORN4_uc001koe.2_Missense_Mutation_p.T9A|uc001kof.1_Intron|MORN4_uc009xvv.1_Missense_Mutation_p.H99R	NM_178832	NP_849154	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	9											0						CTGGAGTAGGTGAAGGAACCT	0.483													C	99379386	T	C	99379386	3	2	55	1	0	0	0	0	1	0	0	0	9710	1696	59	3	431	3	MORN4	10	99379386	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	2374	99379386	36155361	911	42259											
GOT1	2805	broad.mit.edu	37	chr10	101180424	101180424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcatccccaagggcaagaCgagaagcacagctccggaac	11	13	1	2	rs146802616		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:101180424C>T	uc001kpr.2	-	2	465	c.257G>A	c.(256-258)CGT>CAT	p.R86H	GOT1_uc009xwh.2_RNA|GOT1_uc009xwi.2_Missense_Mutation_p.R86H|GOT1_uc001kpq.1_5'UTR	NM_002079	NP_002070	P17174	AATC_HUMAN	aspartate aminotransferase 1	86					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding				0		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AAGGGCAAGACGAGAAGCACA	0.463													T	101180424	C	T	101180424	3	4	55	1	0	0	0	0	1	0	0	0	6579	536	19	1	1016	1	GOT1	10	101180424	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1801038	101180424	34354323	912	42260											
PDZD7	79955	broad.mit.edu	37	chr10	102789811	102789812	+	Frame_Shift_Ins	INS	-	-	G													gatgaggctcggattccgcgINSggggggcccgttcagcagcc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:102789810_102789811C>CG	uc001ksn.3	-	1	416_417	c.166_167G>CG	c.(166-168)cgcfs	p.R56fs	PDZD7_uc021pxc.1_Frame_Shift_Ins_p.R56fs|PDZD7_uc001kso.2_Frame_Shift_Ins_p.R56fs|SFXN3_uc001ksp.3_5'Flank|SFXN3_uc010qpx.2_5'Flank	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA.	56						cilium|nucleus	protein binding	p.R56C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TCGGATTCCGCGGGGGGGCCCG	0.663													G	102789812	-	G	102789811	7	5	55	1	0	1	1	0	0	0	0	0	11704	1116	39	0	1423	0	PDZD7	10	102789811	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	1609387	102789811	32744936	913	42261											
FBXW4	6468	broad.mit.edu	37	chr10	103372106	103372106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactcaccggacgctggtgCggaggtcccagtagcgaaca	13	13	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:103372106C>T	uc001kto.2	-	7	1311	c.965G>A	c.(964-966)CGC>CAC	p.R322H		NM_022039	NP_071322	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	322	WD 3.				ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				skin(1)	1		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		GACGCTGGTGCGGAGGTCCCA	0.622													T	103372106	C	T	103372106	3	4	55	1	0	0	0	0	1	0	0	0	5767	768	27	1	285	1	FBXW4	10	103372106	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	582295	103372106	32162641	914	42262											
MGEA5	10724	broad.mit.edu	37	chr10	103569961	103569961	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggtccaatttacgtttcaAtgtggatacttccttggggt	10	8	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:103569961A>T	uc001ktv.2	-	4	903	c.460T>A	c.(460-462)TTG>ATG	p.L154M	MGEA5_uc010qqe.1_Missense_Mutation_p.L154M|MGEA5_uc009xws.2_Missense_Mutation_p.L154M|MGEA5_uc001ktw.2_Missense_Mutation_p.L154M|MGEA5_uc009xwt.2_Intron|MGEA5_uc010qqf.1_RNA	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	154					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTACGTTTCAATGTGGATACT	0.373													T	103569961	A	T	103569961	3	4	55	1	0	0	0	0	1	0	0	0	9555	98	4	5	2342	5	MGEA5	10	103569961	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	197855	103569961	31964786	915	42263											
C10orf76	79591	broad.mit.edu	37	chr10	103766310	103766310	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcaccatcagaggaaggCggtgtggtcccaagtggtgt	16	9	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:103766310C>T	uc009xwy.1	-	14	1137	c.1035G>A	c.(1033-1035)CCG>CCA	p.P345P		NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	hypothetical protein LOC79591	345						integral to membrane					0		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		CAGAGGAAGGCGGTGTGGTCC	0.488													T	103766310	C	T	103766310	2	4	55	1	0	0	0	0	0	0	0	1	1616	755	27	1		1	C10orf76	10	103766310	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	196349	103766310	31768437	916	42264											
NOLC1	9221	broad.mit.edu	37	chr10	103920580	103920582	+	In_Frame_Del	DEL	AAG	AAG	-													agacatctaagtctgcagttAagaagaagccacagaaggta							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:103920579_103920581TAAG>T	uc001kup.2	+	9	1735_1737	c.1500_1502TAAG>T	c.(1498-1503)gttaag>gtTg	p.K503del	NOLC1_uc001kuo.2_In_Frame_Del_p.K493del|NOLC1_uc001kuq.2_In_Frame_Del_p.K494del|NOLC1_uc009xxb.1_In_Frame_Del_p.K212del|NOLC1_uc001kur.2_In_Frame_Del_p.K212del	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA.	493	11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		AGTCTGCAGTTAAGAAGAAGCCA	0.532													-	103920582	AAG	-	103920580	7	5	55	1	0	1	0	1	0	0	0	0	10529	363	13	0	1509	0	NOLC1	10	103920580	In_Frame_Del	DEL	AAG	TCGA-BR-7851-01A-11D-2201-08	154270	103920580	31614167	917	42265											
GBF1	8729	broad.mit.edu	37	chr10	104122262	104122262	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtctggtcaactctatAcaacacacctactatctctt	4	13	4	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:104122262A>G	uc001kux.1	+	15	1954	c.1714A>G	c.(1714-1716)ACA>GCA	p.T572A	GBF1_uc001kuy.1_Missense_Mutation_p.T572A|GBF1_uc001kuz.1_Missense_Mutation_p.T573A	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	572					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TCAACTCTATACAACACACCT	0.438													G	104122262	A	G	104122262	3	3	55	1	0	0	0	0	1	0	0	0	6271	391	14	3	1768	3	GBF1	10	104122262	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	201682	104122262	31412485	918	42266											
NFKB2	4791	broad.mit.edu	37	chr10	104161010	104161010	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacctctgatagcgactcGgactctgaagggcctgagaa	11	12	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:104161010G>A	uc001kvb.2	+	19	2410	c.2145G>A	c.(2143-2145)TCG>TCA	p.S715S	NFKB2_uc001kva.2_Silent_p.S715S|NFKB2_uc001kvd.2_Silent_p.S715S|NFKB2_uc009xxc.2_Silent_p.S715S	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene	715			Missing (in truncated form p80HT).|Missing (in truncated form LB40).|Missing (in truncated form EB308).	S->A: Loss of phosphorylation; when associated with G-713 and A-717.	innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(3)	3		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		ATAGCGACTCGGACTCTGAAG	0.632			T	IGH@	B-NHL								A	104161010	G	A	104161010	2	1	55	1	0	0	0	0	0	0	0	1	10376	1103	39	1		1	NFKB2	10	104161010	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	38748	104161010	31373737	919	42267											
TMEM180	79847	broad.mit.edu	37	chr10	104230750	104230750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatttctcctccttccgcGctttctgcgtgacactggct	9	14	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:104230750G>A	uc001kvt.2	+	5	799	c.580G>A	c.(580-582)GCT>ACT	p.A194T	TMEM180_uc001kvs.2_Intron|TMEM180_uc010qql.1_Intron|TMEM180_uc010qqm.1_Intron|TMEM180_uc001kvu.2_Missense_Mutation_p.A194T	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	transmembrane protein 180	194	Helical; (Potential).					integral to membrane				ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTCCTTCCGCGCTTTCTGCGT	0.617													A	104230750	G	A	104230750	3	1	55	1	0	0	0	0	1	0	0	0	16096	1087	38	1	590	1	TMEM180	10	104230750	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	69740	104230750	31303997	920	42268											
TRIM8	81603	broad.mit.edu	37	chr10	104415893	104415893	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaaaatcctgatggacAggtaagctgagggccctagc	13	9	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:104415893A>G	uc001kvz.2	+	4	1054	c.931A>G	c.(931-933)AGG>GGG	p.R311G		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	tripartite motif-containing 8	311						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCTGATGGACAGGTAAGCTGA	0.632													G	104415893	A	G	104415893	3	3	55	1	0	0	0	0	1	0	0	0	16545	202	7	3	945	3	TRIM8	10	104415893	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	185143	104415893	31118854	921	42269											
PDCD11	22984	broad.mit.edu	37	chr10	105174079	105174079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacatcgaacctggggcaGtggtaaaggtaagacctcaa	12	8	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:105174079G>A	uc001kwy.1	+	11	1450	c.1363G>A	c.(1363-1365)GTG>ATG	p.V455M		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	455	S1 motif 5.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACCTGGGGCAGTGGTAAAGGT	0.443													A	105174079	G	A	105174079	3	1	55	1	0	0	0	0	1	0	0	0	11617	1029	36	4	1401	4	PDCD11	10	105174079	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	758186	105174079	30360668	922	42270											
ITPRIP	85450	broad.mit.edu	37	chr10	106074505	106074505	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtaggaggtgcagtagggcCgtcttcaggtggtagctgct	17	7	2	0	rs151096173	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:106074505C>A	uc001kye.2	-	2	1378	c.1305G>T	c.(1303-1305)ACG>ACT	p.T435T	ITPRIP_uc001kyf.2_Silent_p.T435T|ITPRIP_uc001kyg.2_Silent_p.T435T	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-triphosphate receptor interacting	435						plasma membrane					0						GCAGTAGGGCCGTCTTCAGGT	0.657													A	106074505	C	A	106074505	2	1	55	1	0	0	0	0	0	0	0	1	7923	639	23	5		5	ITPRIP	10	106074505	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	900426	106074505	29460242	923	42271											
SORCS3	22986	broad.mit.edu	37	chr10	107012564	107012564	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagaggaccagatcctcaTtgccgtgtttcctggtctcc	9	15	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:107012564T>C	uc001kyi.1	+	23	3364	c.3137T>C	c.(3136-3138)ATT>ACT	p.I1046T	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	1046	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGATCCTCATTGCCGTGTTT	0.522													C	107012564	T	C	107012564	3	2	55	1	0	0	0	0	1	0	0	0	14932	1493	52	3	3227	3	SORCS3	10	107012564	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	938059	107012564	28522183	924	42272											
SORCS1	114815	broad.mit.edu	37	chr10	108466322	108466322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgggcaaagcatatttcGgaagcttcatttgggcaaat	10	8	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:108466322G>A	uc001kym.2	-	8	1222	c.1214C>T	c.(1213-1215)CCG>CTG	p.P405L	SORCS1_uc001kyl.2_Missense_Mutation_p.P405L|SORCS1_uc009xxs.2_Missense_Mutation_p.P405L|SORCS1_uc001kyn.1_Missense_Mutation_p.P405L|SORCS1_uc001kyo.2_Missense_Mutation_p.P405L	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	405	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGCATATTTCGGAAGCTTCAT	0.463													A	108466322	G	A	108466322	3	1	55	1	0	0	0	0	1	0	0	0	14930	1116	39	1	2602	1	SORCS1	10	108466322	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1453758	108466322	27068425	925	42273											
ADD3	120	broad.mit.edu	37	chr10	111872584	111872584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagaacagatgaagaaagGccacaacccaactggattac	8	10	1	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:111872584G>A	uc001kyt.3	+	4	559	c.245G>A	c.(244-246)GGC>GAC	p.G82D	ADD3_uc001kys.3_Missense_Mutation_p.G82D|ADD3_uc001kyu.2_Missense_Mutation_p.G82D|ADD3_uc001kyv.2_Missense_Mutation_p.G82D|ADD3_uc001kyw.2_Missense_Mutation_p.G82D	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	82						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ATGAAGAAAGGCCACAACCCA	0.418													A	111872584	G	A	111872584	3	1	55	1	0	0	0	0	1	0	0	0	306	1203	42	2	251	2	ADD3	10	111872584	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3406262	111872584	23662163	926	42274											
DCLRE1A	9937	broad.mit.edu	37	chr10	115612924	115612924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattcccaaatgtcttcttcGgaaatgtcttctaacatggc	6	10	4	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:115612924G>A	uc001law.2	-	1	936	c.18C>T	c.(16-18)TCC>TCT	p.S6S	NHLRC2_uc001lax.1_5'Flank	NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	6	Nuclear localization region.				cell division|mitosis	nucleus	hydrolase activity			skin(2)	2				Epithelial(162;0.0157)|all cancers(201;0.0171)		TGTCTTCTTCGGAAATGTCTT	0.289								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	115612924	G	A	115612924	2	1	55	1	0	0	0	0	0	0	0	1	4294	1103	39	1		1	DCLRE1A	10	115612924	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3740340	115612924	19921823	927	42275											
ABLIM1	3983	broad.mit.edu	37	chr10	116361697	116361697	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacaggcttctctgatgggtGgtgagggtcctgagggtggg	20	6	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:116361697G>T	uc010qsg.1	-	2	367	c.268C>A	c.(268-270)CAC>AAC	p.H90N	ABLIM1_uc010qsh.1_Missense_Mutation_p.H30N|ABLIM1_uc010qsi.1_Missense_Mutation_p.H30N|ABLIM1_uc010qsk.1_Missense_Mutation_p.H14N|ABLIM1_uc009xyp.2_Missense_Mutation_p.H24N|ABLIM1_uc001lbz.1_Missense_Mutation_p.H13N	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	90					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TCTGATGGGTGGTGAGGGTCC	0.483													T	116361697	G	T	116361697	3	4	55	1	0	0	0	0	1	0	0	0	94	1348	47	5	2240	5	ABLIM1	10	116361697	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	748773	116361697	19173050	928	42276											
FAM160B1	57700	broad.mit.edu	37	chr10	116608484	116608484	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgacacttacctccgagaCgctcataggcaggtaggtga	11	10	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:116608484C>T	uc001lcb.2	+	13	2126	c.1791C>T	c.(1789-1791)GAC>GAT	p.D597D	FAM160B1_uc001lcc.2_Silent_p.D597D	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	597										lung(1)	1						ACCTCCGAGACGCTCATAGGC	0.468													T	116608484	C	T	116608484	2	4	55	1	0	0	0	0	0	0	0	1	5470	535	19	1		1	FAM160B1	10	116608484	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	246787	116608484	18926263	929	42277											
HSPA12A	259217	broad.mit.edu	37	chr10	118434405	118434405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggtctggatctccctccGggcgggcaccgcagtgccac	14	15	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:118434405G>A	uc001lct.2	-	12	2020	c.1915C>T	c.(1915-1917)CGG>TGG	p.R639W	HSPA12A_uc001lcu.2_Missense_Mutation_p.R556W	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	639							ATP binding			ovary(1)	1				all cancers(201;0.0158)		ATCTCCCTCCGGGCGGGCACC	0.572													A	118434405	G	A	118434405	3	1	55	1	0	0	0	0	1	0	0	0	7404	1115	39	1	116	1	HSPA12A	10	118434405	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1825921	118434405	17100342	930	42278											
PDZD8	118987	broad.mit.edu	37	chr10	119078467	119078467	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatttgcctctctgtcataGgatccaaaaatgagtaacct	6	10	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:119078467G>T	uc001lde.1	-	3	1213	c.1014C>A	c.(1012-1014)TCC>TCA	p.S338S		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	338					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		CTCTGTCATAGGATCCAAAAA	0.323													T	119078467	G	T	119078467	2	4	55	1	0	0	0	0	0	0	0	1	11705	987	35	5		5	PDZD8	10	119078467	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	644062	119078467	16456280	931	42279											
BAG3	9531	broad.mit.edu	37	chr10	121436479	121436479	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggattcagtggaccccgaGggacgagccgatgtgcgtca	15	11	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:121436479G>T	uc001lem.2	+	4	1719	c.1413G>T	c.(1411-1413)GAG>GAT	p.E471D	BAG3_uc001lel.2_Missense_Mutation_p.E470D	NM_004281	NP_004272	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	471	BAG.				anti-apoptosis|apoptosis|protein folding	cytosol				ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		TGGACCCCGAGGGACGAGCCG	0.502													T	121436479	G	T	121436479	3	4	55	1	0	0	0	0	1	0	0	0	1288	991	35	5	1427	5	BAG3	10	121436479	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2358012	121436479	14098268	932	42280											
WDR11	55717	broad.mit.edu	37	chr10	122626116	122626116	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcttacctatgatttaCgaagccagtgtgatgcaatc	10	8	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:122626116C>T	uc010qtf.1	+	8	1268	c.1030C>T	c.(1030-1032)CGA>TGA	p.R344*	WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_Translation_Start_Site	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	344						integral to membrane					0						CTATGATTTACGAAGCCAGTG	0.438													T	122626116	C	T	122626116	4	4	55	1	0	0	0	0	0	1	0	0	17270	528	19	1	1060	1	WDR11	10	122626116	Nonsense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1189637	122626116	12908631	933	42281											
TACC2	10579	broad.mit.edu	37	chr10	123846182	123846182	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccaaagcagggcacatcAggtggtgtggacacaagctc	13	11	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:123846182A>G	uc001lfv.2	+	4	4527	c.4167A>G	c.(4165-4167)TCA>TCG	p.S1389S	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.S1389S|TACC2_uc010qtv.1_Silent_p.S1389S	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1389						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGGCACATCAGGTGGTGTGG	0.602													G	123846182	A	G	123846182	2	3	55	1	0	0	0	0	0	0	0	1	15499	175	7	3		3	TACC2	10	123846182	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1220066	123846182	11688565	934	42282											
PTPRE	5791	broad.mit.edu	37	chr10	129861404	129861404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctgggagcaaaagtctgCgaccatcgtcatgttaacaa	11	9	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:129861404C>T	uc001lkb.2	+	10	962	c.683C>T	c.(682-684)GCG>GTG	p.A228V	PTPRE_uc009yat.2_Missense_Mutation_p.A239V|PTPRE_uc010qup.1_RNA|PTPRE_uc009yau.2_Missense_Mutation_p.A228V|PTPRE_uc001lkd.2_Missense_Mutation_p.A170V|PTPRE_uc010quq.1_Missense_Mutation_p.A129V	NM_006504	NP_006495	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	228	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(1)	1		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CAAAAGTCTGCGACCATCGTC	0.502													T	129861404	C	T	129861404	3	4	55	1	0	0	0	0	1	0	0	0	12800	768	27	1	752	1	PTPRE	10	129861404	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	6015222	129861404	5673343	935	42283											
GPR123	84435	broad.mit.edu	37	chr10	134942202	134942202	+	Frame_Shift_Del	DEL	G	G	-													gacatggtcttcagctgcctGtacggcgccttctgcgtgac							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:134942202delG	uc001llx.3	+	7	1306	c.870delG	c.(868-870)CTGfs	p.L290fs	GPR123_uc001llw.2_Frame_Shift_Del_p.L1009fs	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	290	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TCAGCTGCCTGTACGGCGCCT	0.677													-	134942202	G	-	134942202	7	5	55	1	0	1	0	1	0	0	0	0	6637	1364	48	0	892	0	GPR123	10	134942202	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	5080798	134942202	592545	936	42284											
ADAM8	101	broad.mit.edu	37	chr10	135084451	135084451	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgttgtagcagtagccccCggagcagggcgtgccgttct	14	14	1	0	rs137890445		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:135084451C>A	uc010qva.1	-	13	1432	c.1381G>T	c.(1381-1383)GGG>TGG	p.G461W	ADAM8_uc010quz.1_Missense_Mutation_p.G500W|ADAM8_uc009ybi.2_Missense_Mutation_p.G500W			P78325	ADAM8_HUMAN	SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);	461					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			large_intestine(2)|central_nervous_system(1)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CAGTAGCCCCCGGAGCAGGGC	0.672													A	135084451	C	A	135084451	3	1	55	1	0	0	0	0	1	0	0	0	252	652	23	5	934	5	ADAM8	10	135084451	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	142249	135084451	450296	937	42285											
B4GALNT4	338707	broad.mit.edu	37	chr11	376350	376350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcttcctcaacccggaCggtgagtgtccgcagcgccc	10	17	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:376350C>T	uc001lpb.2	+	13	1305	c.1296C>T	c.(1294-1296)GAC>GAT	p.D432D		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	432	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCAACCCGGACGGTGAGTGTC	0.617													T	376350	C	T	376350	2	4	55	1	0	0	0	0	0	0	0	1	1269	550	19	1		1	B4GALNT4	11	376350	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08		376350	134630166	938	42286											
SLC25A22	79751	broad.mit.edu	37	chr11	791923	791923	+	Frame_Shift_Del	DEL	G	G	-													cgggtgctgggctcaggcctGggggtcctgcagcagcccca							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:791923delG	uc001lri.2	-	10	1306	c.964delC	c.(964-966)CAGfs	p.Q322fs	CEND1_uc001lrh.1_5'Flank|SLC25A22_uc009yci.2_Frame_Shift_Del_p.Q322fs|SLC25A22_uc001lrj.2_Frame_Shift_Del_p.Q322fs	NM_024698	NP_078974	Q9H936	GHC1_HUMAN	mitochondrial glutamate carrier 1	322						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity				0		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	GCTCAGGCCTGGGGGTCCTGC	0.706													-	791923	G	-	791923	7	5	55	1	0	1	0	1	0	0	0	0	14485	1357	47	0	11	0	SLC25A22	11	791923	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	415573	791923	134214593	939	42287											
MUC2	4583	broad.mit.edu	37	chr11	1078269	1078269	+	Splice_Site	DEL	G	G	-													agggccgtgcatccccaggcGtgctcttcagtcccctggag							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:1078268_1078268CG>C	uc001lsx.1	+	5	581	c.554_splice	c.e5-1	p.G185_splice		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	185	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CATCCCCAGGCGTGCTCTTCA	0.642													-	1078269	G	-	1078269	8	5	55	1	0	1	0	1	0	0	1	0	9975	1145	40	0	574	0	MUC2	11	1078269	Splice_Site	DEL	G	TCGA-BR-7851-01A-11D-2201-08	286346	1078269	133928247	940	42288											
MUC5B	727897	broad.mit.edu	37	chr11	1264187	1264187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccacagtgcttaccgccaCggccaccacaactggggcca	9	18	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:1264187C>T	uc009ycr.1	+	47	8282	c.8156C>T	c.(8155-8157)ACG>ATG	p.T2719M	MUC5B_uc001ltb.2_Missense_Mutation_p.T2029M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2026	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTTACCGCCACGGCCACCACA	0.637													T	1264187	C	T	1264187	3	4	55	1	0	0	0	0	1	0	0	0	9979	536	19	1	6208	1	MUC5B	11	1264187	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	185918	1264187	133742329	941	42289											
MUC5B	727897	broad.mit.edu	37	chr11	1271392	1271392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacagagctgaccacaacaGccactacgactgcgtccact	7	16	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:1271392G>A	uc009ycr.1	+	51	14827	c.14701G>A	c.(14701-14703)GCC>ACC	p.A4901T	MUC5B_uc001ltb.2_Missense_Mutation_p.A4431T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4428	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACCACAACAGCCACTACGAC	0.657													A	1271392	G	A	1271392	3	1	55	1	0	0	0	0	1	0	0	0	9979	971	34	2	13413	2	MUC5B	11	1271392	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	7205	1271392	133735124	942	42290											
IGF2	3481	broad.mit.edu	37	chr11	2154748	2154748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggcccaggaccctcaccGgaagcacggtcggaggggtc	17	13	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:2154748G>A	uc009yde.2	-	3	408	c.305C>T	c.(304-306)CCG>CTG	p.P102L	IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Missense_Mutation_p.P102L|IGF2_uc009ydf.2_Missense_Mutation_p.P158L|IGF2_uc001lvh.2_Missense_Mutation_p.P102L|INS-IGF2_uc001lvi.2_RNA	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	insulin-like growth factor 2 isoform 1	102					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)	1		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GACCCTCACCGGAAGCACGGT	0.642													A	2154748	G	A	2154748	3	1	55	1	0	0	0	0	1	0	0	0	7572	1130	39	1	245	1	IGF2	11	2154748	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	883356	2154748	132851768	943	42291											
NUP98	4928	broad.mit.edu	37	chr11	3720468	3720468	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggagaaagctcttcttcGctccagaatttgaatgtatt	10	8	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:3720468G>A	uc001lyh.2	-	25	4144	c.3853C>T	c.(3853-3855)CGA>TGA	p.R1285*	NUP98_uc001lyi.2_Nonsense_Mutation_p.R1285*|NUP98_uc001lyg.2_Nonsense_Mutation_p.R250*	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1302					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GCTCTTCTTCGCTCCAGAATT	0.403			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								A	3720468	G	A	3720468	4	1	55	1	0	0	0	0	0	1	0	0	10773	1095	38	1	1585	1	NUP98	11	3720468	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1565720	3720468	131286048	944	42292											
OR52E8	390079	broad.mit.edu	37	chr11	5878011	5878012	+	Frame_Shift_Ins	INS	-	-	CT													ttgagaaaaatcctcagcacINStctctctcgaatctgctttg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:5878010_5878011A>ACT	uc010qzr.2	-	0	922_923	c.922_923T>AGT	c.(922-924)gtgfs	p.V308fs	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATCCTCAGCACTCTCTCTCGA	0.426													CT	5878012	-	CT	5878011	7	5	55	1	0	1	1	0	0	0	0	0	11118	565	20	0	33	0	OR52E8	11	5878011	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	2157543	5878011	129128505	945	42293											
OR52E8	390079	broad.mit.edu	37	chr11	5878222	5878223	+	Frame_Shift_Ins	INS	-	-	T													tgagagctttgagtcgagctINStcccaggagggcaggcagaa							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:5878221_5878222C>CT	uc010qzr.2	-	0	711_712	c.711_712G>AG	c.(709-714)gaagctfs	p.E237fs	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGAGTCGAGCTTCCCAGGAGG	0.431													T	5878223	-	T	5878222	7	5	55	1	0	1	1	0	0	0	0	0	11118	1606	56	0	244	0	OR52E8	11	5878222	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	211	5878222	129128294	946	42294											
DCHS1	8642	broad.mit.edu	37	chr11	6651700	6651700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttctctggcagcgccagcGccagcgggtcgcgcgcaaag	16	14	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:6651700G>A	uc001mem.1	-	10	4735	c.4325C>T	c.(4324-4326)GCG>GTG	p.A1442V		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1442	Extracellular (Potential).|Cadherin 14.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCGCCAGCGCCAGCGGGTC	0.741													A	6651700	G	A	6651700	3	1	55	1	0	0	0	0	1	0	0	0	4287	1087	38	1	5619	1	DCHS1	11	6651700	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	773478	6651700	128354816	947	42295											
DCHS1	8642	broad.mit.edu	37	chr11	6662142	6662142	+	Frame_Shift_Del	DEL	G	G	-													cagcagggcctgggccctccGggggggtgaaccaccatcat					rs143767864	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:6662141_6662141CG>C	uc001mem.1	-	1	1105	c.704_704CG>G	c.(703-705)cggfs	p.R235fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGA	0.587													-	6662142	G	-	6662142	7	5	55	1	0	1	0	1	0	0	0	0	4287	1115	39	0	9273	0	DCHS1	11	6662142	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	10442	6662142	128344374	948	42296											
CTR9	9646	broad.mit.edu	37	chr11	10794128	10794130	+	In_Frame_Del	DEL	GAA	GAA	-													cccgggcacgcaaacaagatGaagaagagcgggagctgcgg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:10794127_10794129TGAA>T	uc001mja.3	+	19	2654_2656	c.2505_2507TGAA>T	c.(2503-2508)gatgaa>gaTa	p.E838del		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	838					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GCAAACAAGATGAAGAAGAGCGG	0.463													-	10794130	GAA	-	10794128	7	5	55	1	0	1	0	1	0	0	0	0	4024	1291	45	0	2584	0	CTR9	11	10794128	In_Frame_Del	DEL	GAA	TCGA-BR-7851-01A-11D-2201-08	4131986	10794128	124212388	949	42297											
EIF4G2	1982	broad.mit.edu	37	chr11	10824633	10824633	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtccattgtcaagaaaagCcttgcgaggaacccaatggt	11	9	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:10824633C>A	uc001mjc.2	-	11	1357	c.940G>T	c.(940-942)GCT>TCT	p.A314S	EIF4G2_uc001mjb.2_Missense_Mutation_p.A108S|EIF4G2_uc009ygf.2_Missense_Mutation_p.A108S|EIF4G2_uc001mjd.2_Missense_Mutation_p.A314S|EIF4G2_uc001mjf.1_Missense_Mutation_p.A108S|SNORD97_uc009yge.2_5'Flank	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	314					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TCAAGAAAAGCCTTGCGAGGA	0.348													A	10824633	C	A	10824633	3	1	55	1	0	0	0	0	1	0	0	0	5037	739	26	5	1831	5	EIF4G2	11	10824633	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	30505	10824633	124181883	950	42298											
INSC	387755	broad.mit.edu	37	chr11	15247376	15247376	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccttacactcgggaccaggTaagacgcccagaaggcactg	12	13	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:15247376T>C	uc001mly.2	+	9	1357	c.1311_splice	c.e9+2	p.Q437_splice	INSC_uc001mlz.2_Splice_Site_p.Q390_splice|INSC_uc001mma.2_Splice_Site_p.Q390_splice|INSC_uc010rcs.1_Splice_Site_p.Q425_splice|INSC_uc001mmb.2_Splice_Site_p.Q390_splice|INSC_uc001mmc.2_Splice_Site_p.Q348_splice	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a						cell differentiation|nervous system development	cytoplasm	binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						CGGGACCAGGTAAGACGCCCA	0.577													C	15247376	T	C	15247376	5	2	55	1	0	0	0	0	0	0	1	0	7764	1652	57	3	1347	3	INSC	11	15247376	Splice_Site	SNP	T	TCGA-BR-7851-01A-11D-2201-08	4422743	15247376	119759140	951	42299											
SAA2	6289	broad.mit.edu	37	chr11	18266953	18266953	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggcaggccagcaggtcGgaagtgattggggtctctgc	16	10	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:18266953G>A	uc001mnz.3	-	4	377	c.340C>T	c.(340-342)CGA>TGA	p.R114*	SAA2_uc009yhj.2_Intron	NM_030754	NP_110381	P02735	SAA_HUMAN	serum amyloid A2 isoform a	114					acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding				0					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCAGCAGGTCGGAAGTGATTG	0.572													A	18266953	G	A	18266953	4	1	55	1	0	0	0	0	0	1	0	0	13799	1124	39	1	58	1	SAA2	11	18266953	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3019577	18266953	116739563	952	42300											
SPTY2D1	144108	broad.mit.edu	37	chr11	18636955	18636955	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctattgccagatcctgccTtgatcctctctcctggcatg	8	14	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:18636955T>C	uc001moy.2	-	3	1082	c.866A>G	c.(865-867)AAG>AGG	p.K289R	SPTY2D1_uc010rdi.1_Missense_Mutation_p.K289R	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	289	Ser-rich.									breast(1)	1						AGATCCTGCCTTGATCCTCTC	0.507													C	18636955	T	C	18636955	3	2	55	1	0	0	0	0	1	0	0	0	15125	1609	56	3	1207	3	SPTY2D1	11	18636955	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	370002	18636955	116369561	953	42301											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955405	18955405	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagctccaggatttcctcAggaagctgccctccaccttc	8	16	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:18955405A>G	uc001mpg.2	-	1	1145	c.927T>C	c.(925-927)CCT>CCC	p.P309P		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	309	Cytoplasmic (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3						GGATTTCCTCAGGAAGCTGCC	0.572													G	18955405	A	G	18955405	2	3	55	1	0	0	0	0	0	0	0	1	9766	175	7	3		3	MRGPRX1	11	18955405	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	318450	18955405	116051111	954	42302											
CSRP3	8048	broad.mit.edu	37	chr11	19213981	19213981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccacattttgcgcctccGccccagtttggcatcttgaa	8	15	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:19213981G>A	uc001mpk.2	-	2	132	c.15C>T	c.(13-15)GGC>GGT	p.G5G		NM_003476	NP_003467	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3	5					cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding				0						TTGCGCCTCCGCCCCAGTTTG	0.488													A	19213981	G	A	19213981	2	1	55	1	0	0	0	0	0	0	0	1	3969	1074	38	1		1	CSRP3	11	19213981	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	258576	19213981	115792535	955	42303											
NAV2	89797	broad.mit.edu	37	chr11	19961240	19961240	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgaagggaatgttactgcCgagtcaagctcaacaggtgt	12	8	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:19961240C>T	uc010rdm.1	+	9	2497	c.2136C>T	c.(2134-2136)GCC>GCT	p.A712A	NAV2_uc001mpp.2_Silent_p.A625A|NAV2_uc001mpr.3_Silent_p.A689A	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	712						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						ATGTTACTGCCGAGTCAAGCT	0.532													T	19961240	C	T	19961240	2	4	55	1	0	0	0	0	0	0	0	1	10184	639	23	1		1	NAV2	11	19961240	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	747259	19961240	115045276	956	42304											
DCDC1	341019	broad.mit.edu	37	chr11	31349818	31349818	+	Frame_Shift_Del	DEL	T	T	-													tctgtgatcttctgctcctgTttttgccattttcagctaaa							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:31349818delT	uc001msv.2	-	3	212	c.10delA	c.(10-12)ACAfs	p.T4fs	DCDC1_uc001msu.1_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	4					intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					TCTGCTCCTGTTTTTGCCATT	0.353													-	31349818	T	-	31349818	7	5	55	1	0	1	0	1	0	0	0	0	4284	1725	60	0	1082	0	DCDC1	11	31349818	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	11388578	31349818	103656698	957	42305											
PAX6	5080	broad.mit.edu	37	chr11	31824281	31824281	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgggaaatgtcgcacggccGggccccgctgtgagctagct	15	13	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:31824281G>T	uc001mtd.3	-	4	1002	c.112C>A	c.(112-114)CGG>AGG	p.R38R	PAX6_uc001mte.3_Silent_p.R38R|PAX6_uc001mtg.3_Silent_p.R38R|PAX6_uc001mtf.3_Silent_p.R38R|PAX6_uc001mth.3_Silent_p.R38R|PAX6_uc009yjr.2_Silent_p.R38R	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	38	Paired.		Missing (in AN).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					TCGCACGGCCGGGCCCCGCTG	0.647									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				T	31824281	G	T	31824281	2	4	55	1	0	0	0	0	0	0	0	1	11483	1115	39	5		5	PAX6	11	31824281	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	474463	31824281	103182235	958	42306											
C11orf41	25758	broad.mit.edu	37	chr11	33565470	33565470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagcattgagcagcctgtGcaacagtcagacatgaccat	9	11	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:33565470G>A	uc001mup.3	+	1	1594	c.1470G>A	c.(1468-1470)GTG>GTA	p.V490V	C11orf41_uc001mun.1_Silent_p.V490V	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	490						integral to membrane				ovary(2)	2						AGCAGCCTGTGCAACAGTCAG	0.448													A	33565470	G	A	33565470	2	1	55	1	0	0	0	0	0	0	0	1	1640	1306	46	2		2	C11orf41	11	33565470	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1741189	33565470	101441046	959	42307											
LDLRAD3	143458	broad.mit.edu	37	chr11	36250715	36250715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccccatcacaggcctgCgtggtatgaccttcctccac	8	17	1	1	rs149451273		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:36250715C>T	uc001mwk.1	+	6	843	c.806C>T	c.(805-807)GCG>GTG	p.A269V	LDLRAD3_uc010rey.1_Missense_Mutation_p.A220V|LDLRAD3_uc010rez.1_Missense_Mutation_p.A148V|LDLRAD3_uc010rfa.1_RNA	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain	269	Cytoplasmic (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CACAGGCCTGCGTGGTATGAC	0.587													T	36250715	C	T	36250715	3	4	55	1	0	0	0	0	1	0	0	0	8707	768	27	1	828	1	LDLRAD3	11	36250715	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2685245	36250715	98755801	960	42308											
RAG1	5896	broad.mit.edu	37	chr11	36596057	36596057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgccaacatcttctgtcGctgactcggagagctcagaa	9	15	3	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:36596057G>A	uc001mwu.3	+	2	1327	c.1203G>A	c.(1201-1203)TCG>TCA	p.S401S	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	401	NBD.		S -> P (in OS).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				ATCTTCTGTCGCTGACTCGGA	0.483									Familial_Hemophagocytic_Lymphohistiocytosis				A	36596057	G	A	36596057	2	1	55	1	0	0	0	0	0	0	0	1	13003	1074	38	1		1	RAG1	11	36596057	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	345342	36596057	98410459	961	42309											
GYLTL1B	120071	broad.mit.edu	37	chr11	45949753	45949753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagtggccccgaggccacGcacccacagactatgcccgc	11	18	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:45949753G>A	uc001nbv.1	+	13	1891	c.1780G>A	c.(1780-1782)GCA>ACA	p.A594T	GYLTL1B_uc001nbw.1_Missense_Mutation_p.A563T|GYLTL1B_uc001nbx.1_Missense_Mutation_p.A594T|GYLTL1B_uc001nby.1_Missense_Mutation_p.A277T|GYLTL1B_uc001nbz.1_Intron	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	594	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)		CCGAGGCCACGCACCCACAGA	0.672													A	45949753	G	A	45949753	3	1	55	1	0	0	0	0	1	0	0	0	6907	1087	38	1	1826	1	GYLTL1B	11	45949753	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	9353696	45949753	89056763	962	42310											
LRP4	4038	broad.mit.edu	37	chr11	46880748	46880749	+	Frame_Shift_Ins	INS	-	-	C													tacatgatcccggaggaggcINSccccccgtgagcttcgcagt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:46880747_46880748G>GC	uc001ndn.4	-	37	5747_5748	c.5504_5505C>GC	c.(5503-5505)ggcfs	p.G1835fs	LOC100507401_uc001ndl.3_Intron|LRP4_uc001ndm.4_Frame_Shift_Ins_p.G77fs	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1835					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCCGGAGGAGGCCCCCCCGTGA	0.564													C	46880749	-	C	46880748	7	5	55	1	0	1	1	0	0	0	0	0	8959	739	26	0	217	0	LRP4	11	46880748	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	930995	46880748	88125768	963	42311											
NUP160	23279	broad.mit.edu	37	chr11	47814391	47814391	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattctggacgaataagtcGtaaacaattgagagcagcca	9	7	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:47814391G>A	uc001ngm.2	-	28	3482	c.3397C>T	c.(3397-3399)CGA>TGA	p.R1133*	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	1133					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						CGAATAAGTCGTAAACAATTG	0.463													A	47814391	G	A	47814391	4	1	55	1	0	0	0	0	0	1	0	0	10757	1153	40	1	949	1	NUP160	11	47814391	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	933643	47814391	87192125	964	42312											
PTPRJ	5795	broad.mit.edu	37	chr11	48145173	48145173	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttaaaatagagccgatcCcagtttctgatctccgtgtt	7	9	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:48145173C>A	uc001ngp.3	+	5	980	c.625C>A	c.(625-627)CCA>ACA	p.P209T	PTPRJ_uc001ngo.3_Missense_Mutation_p.P209T	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	209	Extracellular (Potential).|Fibronectin type-III 2.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						AGAGCCGATCCCAGTTTCTGA	0.488													A	48145173	C	A	48145173	3	1	55	1	0	0	0	0	1	0	0	0	12804	623	22	5	643	5	PTPRJ	11	48145173	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	330782	48145173	86861343	965	42313											
OR4S1	256148	broad.mit.edu	37	chr11	48328602	48328602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctctttaacattgtgatGccacctttgctgaacccttt	5	12	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:48328602G>A	uc010rhu.1	+	1	828	c.828G>A	c.(826-828)ATG>ATA	p.M276I		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S,	276	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ACATTGTGATGCCACCTTTGC	0.463													A	48328602	G	A	48328602	3	1	55	1	0	0	0	0	1	0	0	0	11082	1319	46	2	830	2	OR4S1	11	48328602	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	183429	48328602	86677914	966	42314											
OR4P4	81300	broad.mit.edu	37	chr11	55406142	55406143	+	Frame_Shift_Ins	INS	-	-	T													tacaactctttaccacccatINSttttttggaggcatagagat							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:55406141_55406142A>AT	uc010rij.2	+	0	308_309	c.308_309A>AT	c.(307-309)catfs	p.H103fs		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H103L(2)|p.F105fs*4(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTTACCACCCATTTTTTTGGAG	0.436													T	55406143	-	T	55406142	7	5	55	1	0	1	1	0	0	0	0	0	11080	1490	52	0	311	0	OR4P4	11	55406142	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	7077540	55406142	79600374	967	42315											
OR4S2	219431	broad.mit.edu	37	chr11	55418833	55418833	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacgtgggtaggtgggttcTtacactccattatccaagtg	13	8	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:55418833T>C	uc001nhs.1	+	1	454	c.454T>C	c.(454-456)TTA>CTA	p.L152L		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.0748)				AGGTGGGTTCTTACACTCCAT	0.428													C	55418833	T	C	55418833	2	2	55	1	0	0	0	0	0	0	0	1	11083	1606	56	3		3	OR4S2	11	55418833	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	12691	55418833	79587683	968	42316											
OR8H3	390152	broad.mit.edu	37	chr11	55890450	55890450	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cactgaaatgctgatattcaTtatcgctggttccaccctga	7	11	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:55890450T>A	uc001nii.1	+	1	602	c.602T>A	c.(601-603)ATT>AAT	p.I201N		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	201	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					CTGATATTCATTATCGCTGGT	0.408													A	55890450	T	A	55890450	3	1	55	1	0	0	0	0	1	0	0	0	11239	1493	52	5	604	5	OR8H3	11	55890450	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	471617	55890450	79116066	969	42317											
OR5M3	219482	broad.mit.edu	37	chr11	56237709	56237709	+	Frame_Shift_Del	DEL	T	T	-													acaaccagcataagtaattgTttttttatctgataacaggt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:56237708_56237708GT>G	uc010rjk.2	-	0	307	c.266_266AC>C	c.(265-267)acafs	p.T89fs	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					ATAAGTAATTGTTTTTTTATC	0.363													-	56237709	T	-	56237709	7	5	55	1	0	1	0	1	0	0	0	0	11175	1725	60	0	660	0	OR5M3	11	56237709	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	347259	56237709	78768807	970	42318											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57080198	57080198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcttgggtggtctcagccCgggctagggtcacggcctcc	16	13	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:57080198C>T	uc001njr.2	-	4	2276	c.1964G>A	c.(1963-1965)CGG>CAG	p.R655Q	TNKS1BP1_uc001njs.2_Missense_Mutation_p.R655Q|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.R106Q	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	655	Pro-rich.|Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				GGTCTCAGCCCGGGCTAGGGT	0.652													T	57080198	C	T	57080198	3	4	55	1	0	0	0	0	1	0	0	0	16317	652	23	1	3253	1	TNKS1BP1	11	57080198	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	842489	57080198	77926318	971	42319											
CTNND1	1500	broad.mit.edu	37	chr11	57578950	57578951	+	Frame_Shift_Ins	INS	-	-	A													cctctcattgaccggaaccaINSaaaatcaggtgcagtatcca							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:57578949_57578950C>CA	uc001nmc.4	+	16	3200_3201	c.2629_2630C>CA	c.(2629-2631)caafs	p.Q877fs	CTNND1_uc001nlf.2_Frame_Shift_Ins_p.Q877fs|CTNND1_uc021qjk.1_Frame_Shift_Ins_p.Q871fs|CTNND1_uc001nlh.1_Frame_Shift_Ins_p.Q877fs|CTNND1_uc001nlj.4_Frame_Shift_Ins_p.Q817fs|CTNND1_uc001nlq.4_Frame_Shift_Ins_p.Q776fs|CTNND1_uc001nlr.4_Frame_Shift_Ins_p.Q817fs|CTNND1_uc001nln.4_Frame_Shift_Ins_p.Q871fs|CTNND1_uc001nli.4_Frame_Shift_Ins_p.Q871fs|CTNND1_uc001nlo.4_Frame_Shift_Ins_p.Q770fs|CTNND1_uc001nlp.4_Frame_Shift_Ins_p.Q817fs|CTNND1_uc001nlu.4_Frame_Shift_Ins_p.Q770fs|CTNND1_uc001nlt.4_Frame_Shift_Ins_p.Q770fs|CTNND1_uc001nlv.4_Frame_Shift_Ins_p.Q770fs|CTNND1_uc001nls.4_Frame_Shift_Ins_p.Q770fs|CTNND1_uc001nlw.4_Frame_Shift_Ins_p.Q770fs|CTNND1_uc001nmf.4_Frame_Shift_Ins_p.Q877fs|CTNND1_uc001nlx.4_Frame_Shift_Ins_p.Q554fs|CTNND1_uc001nlz.4_Frame_Shift_Ins_p.Q554fs|CTNND1_uc009ymn.3_Frame_Shift_Ins_p.Q548fs|CTNND1_uc001nly.4_Frame_Shift_Ins_p.Q548fs|CTNND1_uc001nmb.4_Frame_Shift_Ins_p.Q548fs|CTNND1_uc001nma.4_Frame_Shift_Ins_p.Q548fs|CTNND1_uc001nmd.4_Frame_Shift_Ins_p.Q823fs|CTNND1_uc001nlk.4_Frame_Shift_Ins_p.Q823fs|CTNND1_uc001nme.4_Frame_Shift_Ins_p.Q871fs|CTNND1_uc001nll.4_Frame_Shift_Ins_p.Q817fs|CTNND1_uc001nlm.4_Frame_Shift_Ins_p.Q871fs|CTNND1_uc001nmi.4_Frame_Shift_Ins_p.Q776fs|CTNND1_uc001nmg.4_Frame_Shift_Ins_p.Q817fs|CTNND1_uc001nmh.4_Frame_Shift_Ins_p.Q871fs	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	877					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGACCGGAACCAAAAATCAGGT	0.421													A	57578951	-	A	57578950	7	5	55	1	0	1	1	0	0	0	0	0	4019	130	5	0	2688	0	CTNND1	11	57578950	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	498752	57578950	77427566	972	42320											
OR10Q1	219960	broad.mit.edu	37	chr11	57995829	57995829	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatttcctggtggtggccGcaaaagggcagggtgaagat	16	6	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:57995829G>A	uc010rkd.1	-	1	519	c.519C>T	c.(517-519)TGC>TGT	p.C173C		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	173	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)				GGTGGTGGCCGCAAAAGGGCA	0.652													A	57995829	G	A	57995829	2	1	55	1	0	0	0	0	0	0	0	1	10916	1079	38	1		1	OR10Q1	11	57995829	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	416879	57995829	77010687	973	42321											
ZFP91	80829	broad.mit.edu	37	chr11	58385066	58385066	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcctgatggctgatgggaagAtctttgtgggaagcggcagc	17	7	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:58385066A>T	uc001nmx.3	+	11	1768	c.1600A>T	c.(1600-1602)ATC>TTC	p.I534F	ZFP91_uc001nmy.3_Missense_Mutation_p.I533F|ZFP91-CNTF_uc010rkm.1_Intron	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	zinc finger protein 91	534					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGATGGGAAGATCTTTGTGGG	0.378													T	58385066	A	T	58385066	3	4	55	1	0	0	0	0	1	0	0	0	17652	333	12	5	1642	5	ZFP91	11	58385066	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	389237	58385066	76621450	974	42322											
OR5A1	219982	broad.mit.edu	37	chr11	59211158	59211158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttaggcttcacttttgcGgacccaacatcatcaaccac	5	13	3	0	rs140829988		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:59211158G>A	uc001nnx.1	+	1	517	c.517G>A	c.(517-519)GGA>AGA	p.G173R		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	173	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2						TCACTTTTGCGGACCCAACAT	0.547													A	59211158	G	A	59211158	3	1	55	1	0	0	0	0	1	0	0	0	11139	1117	39	1	519	1	OR5A1	11	59211158	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	826092	59211158	75795358	975	42323											
OSBP	5007	broad.mit.edu	37	chr11	59369267	59369267	+	Frame_Shift_Del	DEL	T	T	-													tactgtagtgacttttgccaTtttttactatgggtctgggc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:59369266_59369266AT>A	uc001noc.1	-	3	1348	c.868_868AT>T	c.(868-870)tggfs	p.W290fs	OSBP_uc009ymr.1_5'Flank	NM_002556	NP_002547	P22059	OSBP1_HUMAN	Homo sapiens oxysterol binding protein (OSBP), mRNA.	290					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GACTTTTGCCATTTTTTACTA	0.502													-	59369267	T	-	59369267	7	5	55	1	0	1	0	1	0	0	0	0	11273	1490	52	0	1600	0	OSBP	11	59369267	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	158109	59369267	75637249	976	42324											
STX3	6809	broad.mit.edu	37	chr11	59560902	59560902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcagtgagattgagggacGacacaaggacattgtgaggc	14	8	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:59560902G>A	uc001nog.2	+	8	780	c.590G>A	c.(589-591)CGA>CAA	p.R197Q	STX3_uc010rkx.1_Missense_Mutation_p.R197Q|STX3_uc010rky.1_Missense_Mutation_p.R100Q|STX3_uc009ymt.1_Missense_Mutation_p.R100Q	NM_004177	NP_004168	Q13277	STX3_HUMAN	syntaxin 3	197	t-SNARE coiled-coil homology.|Cytoplasmic (Potential).				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			ovary(2)	2						ATTGAGGGACGACACAAGGAC	0.512													A	59560902	G	A	59560902	3	1	55	1	0	0	0	0	1	0	0	0	15345	1058	37	1	620	1	STX3	11	59560902	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	191635	59560902	75445614	977	42325											
MS4A1	931	broad.mit.edu	37	chr11	60230571	60230571	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatctgtgtgactgtgtggTaccctctctggggaggcatt	13	10	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:60230571T>C	uc001npp.2	+	4	672	c.256T>C	c.(256-258)TAC>CAC	p.Y86H	MS4A1_uc009ymy.1_Missense_Mutation_p.Y86H|MS4A1_uc001npq.2_Missense_Mutation_p.Y86H|MS4A1_uc009yna.2_Missense_Mutation_p.Y86H|MS4A1_uc009ymz.2_Missense_Mutation_p.Y86H|MS4A1_uc010rlc.1_Intron	NM_152866	NP_690605	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member	86	Helical; (Potential).				B cell activation|immune response	integral to plasma membrane				ovary(3)|lung(2)	5					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	GACTGTGTGGTACCCTCTCTG	0.498													C	60230571	T	C	60230571	3	2	55	1	0	0	0	0	1	0	0	0	9854	1638	57	3	262	3	MS4A1	11	60230571	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	669669	60230571	74775945	978	42326											
MS4A10	341116	broad.mit.edu	37	chr11	60557821	60557821	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcatcaatgaaagcagaaGccacagttattcccagccgt	8	12	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:60557821G>T	uc001npz.1	+	2	109	c.13G>T	c.(13-15)GCC>TCC	p.A5S		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member	5	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(1)|skin(1)	2						GAAAGCAGAAGCCACAGTTAT	0.607													T	60557821	G	T	60557821	3	4	55	1	0	0	0	0	1	0	0	0	9855	971	34	5	15	5	MS4A10	11	60557821	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	327250	60557821	74448695	979	42327											
SLC15A3	51296	broad.mit.edu	37	chr11	60711286	60711286	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagacctctcgtcggccaGcacgcgggcacattgacggt	15	13	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:60711286G>A	uc001nqn.2	-	3	1105	c.871C>T	c.(871-873)CTG>TTG	p.L291L	SLC15A3_uc001nqo.2_Silent_p.L291L	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	solute carrier family 15, member 3	291					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0						TCGTCGGCCAGCACGCGGGCA	0.483													A	60711286	G	A	60711286	2	1	55	1	0	0	0	0	0	0	0	1	14400	962	34	2		2	SLC15A3	11	60711286	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	153465	60711286	74295230	980	42328											
CD6	923	broad.mit.edu	37	chr11	60777127	60777128	+	Frame_Shift_Ins	INS	-	-	GT													ccgaggggtctggaacacagINStgtgtgacagtgagtggtac							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:60777126_60777127A>AGT	uc001nqq.3	+	4	1089_1090	c.864_865A>AGT	c.(862-867)acagtgfs	p.T288fs	CD6_uc009yni.3_Intron|CD6_uc009ynj.3_Intron|CD6_uc001nqp.3_Frame_Shift_Ins_p.T288fs|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Frame_Shift_Ins_p.T288fs|CD6_uc001nqt.3_Frame_Shift_Ins_p.T288fs	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	288	SRCR 3.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TCTGGAACACAGTGTGTGACAG	0.653													GT	60777128	-	GT	60777127	7	5	55	1	0	1	1	0	0	0	0	0	3028	1029	36	0	883	0	CD6	11	60777127	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	65841	60777127	74229389	981	42329											
DDB1	1642	broad.mit.edu	37	chr11	61079513	61079513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcagcttctggatctcatCgatggtgccaatggtgaggg	15	8	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:61079513C>T	uc001nrc.3	-	17	2339	c.2113G>A	c.(2113-2115)GAT>AAT	p.D705N	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.D705N	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	705	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						TGGATCTCATCGATGGTGCCA	0.552								NER					T	61079513	C	T	61079513	3	4	55	1	0	0	0	0	1	0	0	0	4323	884	31	1	1353	1	DDB1	11	61079513	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	302386	61079513	73927003	982	42330											
C11orf9	745	broad.mit.edu	37	chr11	61539203	61539203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacaccgccttggcacccGccaggtgccccctccccagg	10	21	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:61539203G>A	uc001nsc.1	+	6	1068	c.972G>A	c.(970-972)CCG>CCA	p.P324P	C11orf9_uc001nse.1_Silent_p.P315P	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	324	NDT80.|Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						CTTGGCACCCGCCAGGTGCCC	0.697													A	61539203	G	A	61539203	2	1	55	1	0	0	0	0	0	0	0	1	1671	1074	38	1		1	C11orf9	11	61539203	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	459690	61539203	73467313	983	42331											
C11orf9	745	broad.mit.edu	37	chr11	61541548	61541548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggtgacagtgtacatcGgcatgctgggcgagcccaag	14	11	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:61541548G>A	uc001nsc.1	+	8	1321	c.1225G>A	c.(1225-1227)GGC>AGC	p.G409S	C11orf9_uc001nse.1_Missense_Mutation_p.G400S	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	409	NDT80.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						AGTGTACATCGGCATGCTGGG	0.587													A	61541548	G	A	61541548	3	1	55	1	0	0	0	0	1	0	0	0	1671	1116	39	1	1278	1	C11orf9	11	61541548	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2345	61541548	73464968	984	42332											
RAB3IL1	5866	broad.mit.edu	37	chr11	61672092	61672092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccggctcaatggtgagCgtgttgtcctccacggcggc	14	14	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:61672092C>T	uc001nso.2	-	7	983	c.825G>A	c.(823-825)ACG>ACA	p.T275T	RAB3IL1_uc001nsp.2_Silent_p.T249T	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	275							protein binding			skin(2)|central_nervous_system(1)	3						CAATGGTGAGCGTGTTGTCCT	0.647													T	61672092	C	T	61672092	2	4	55	1	0	0	0	0	0	0	0	1	12937	755	27	1		1	RAB3IL1	11	61672092	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	130544	61672092	73334424	985	42333											
MTA2	9219	broad.mit.edu	37	chr11	62361501	62361501	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttccagatgggtcagagccTtccgtagggccctggccaga	13	12	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:62361501T>C	uc001ntq.1	-	18	2234	c.1853A>G	c.(1852-1854)AAG>AGG	p.K618R	TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Missense_Mutation_p.K445R	NM_004739	NP_004730	O94776	MTA2_HUMAN	metastasis-associated protein 2	618					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						GGTCAGAGCCTTCCGTAGGGC	0.567											OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	62361501	T	C	62361501	3	2	55	1	0	0	0	0	1	0	0	0	9909	1609	56	3	157	3	MTA2	11	62361501	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	689409	62361501	72645015	986	42334											
EML3	256364	broad.mit.edu	37	chr11	62376578	62376578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacacaaacagattagagCgggagtcacgacccctgtac	10	12	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:62376578C>T	uc001ntu.1	-	7	1093	c.785G>A	c.(784-786)CGC>CAC	p.R262H	EML3_uc001ntr.1_Missense_Mutation_p.R234H|EML3_uc001nts.1_Missense_Mutation_p.R234H|EML3_uc001ntt.1_Missense_Mutation_p.R146H|EML3_uc010rly.1_Missense_Mutation_p.R262H|EML3_uc009yny.1_Missense_Mutation_p.R45H	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	262						cytoplasm|microtubule	protein binding			ovary(1)	1						CAGATTAGAGCGGGAGTCACG	0.582													T	62376578	C	T	62376578	3	4	55	1	0	0	0	0	1	0	0	0	5098	768	27	1	1969	1	EML3	11	62376578	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	15077	62376578	72629938	987	42335											
TMEM179B	374395	broad.mit.edu	37	chr11	62557411	62557411	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggtcttggtgctccaggtCgtgcagtggaagtctgaagc	16	8	2	1	rs149169067		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:62557411C>T	uc001nvd.3	+	5	582	c.552C>T	c.(550-552)GTC>GTT	p.V184V		NM_199337	NP_955369	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	184	Helical; (Potential).					integral to membrane					0						TGCTCCAGGTCGTGCAGTGGA	0.557													T	62557411	C	T	62557411	2	4	55	1	0	0	0	0	0	0	0	1	16094	871	31	1		1	TMEM179B	11	62557411	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	180833	62557411	72449105	988	42336											
NXF1	10482	broad.mit.edu	37	chr11	62569689	62569689	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgcacttgctctgaatcAtgctcaggagccatgccttg	9	13	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:62569689A>G	uc001nvf.1	-	4	549	c.413T>C	c.(412-414)ATG>ACG	p.M138T	NXF1_uc001nvg.1_Missense_Mutation_p.M138T|NXF1_uc009yog.1_Missense_Mutation_p.M181T|NXF1_uc010rmh.1_Missense_Mutation_p.M1T	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	138	Interaction with THOC4.|RRM.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3						GCTCTGAATCATGCTCAGGAG	0.502													G	62569689	A	G	62569689	3	3	55	1	0	0	0	0	1	0	0	0	10782	217	8	3	1573	3	NXF1	11	62569689	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	12278	62569689	72436827	989	42337											
OTUB1	55611	broad.mit.edu	37	chr11	63764868	63764868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccacatccacatcattgcGctggcccaggccctcagcgt	9	17	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:63764868G>A	uc001nyf.1	+	7	1270	c.666G>A	c.(664-666)GCG>GCA	p.A222A	OTUB1_uc001nyg.1_Silent_p.A265A|OTUB1_uc010rmz.1_Silent_p.A259A|OTUB1_uc010rna.1_Silent_p.A231A|OTUB1_uc009ypa.2_Silent_p.A121A|OTUB1_uc009ypb.1_Silent_p.A192A	NM_017670	NP_060140	Q96FW1	OTUB1_HUMAN	otubain 1	222	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)	1						ACATCATTGCGCTGGCCCAGG	0.677													A	63764868	G	A	63764868	2	1	55	1	0	0	0	0	0	0	0	1	11311	1074	38	1		1	OTUB1	11	63764868	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1195179	63764868	71241648	990	42338											
RPS6KA4	8986	broad.mit.edu	37	chr11	64137189	64137189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaacatcctgtacgccgacGacacgcccggggccccggtg	13	16	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:64137189G>A	uc001oae.2	+	14	1704	c.1621G>A	c.(1621-1623)GAC>AAC	p.D541N	RPS6KA4_uc001oad.2_Missense_Mutation_p.D535N|RPS6KA4_uc010rnl.1_Missense_Mutation_p.D478N|RPS6KA4_uc001oaf.2_Missense_Mutation_p.D534N|RPS6KA4_uc009ypp.2_Intron	NM_003942	NP_003933	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	541	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			lung(3)|ovary(1)|breast(1)	5						GTACGCCGACGACACGCCCGG	0.726													A	64137189	G	A	64137189	3	1	55	1	0	0	0	0	1	0	0	0	13653	1058	37	1	1675	1	RPS6KA4	11	64137189	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	372321	64137189	70869327	991	42339											
PYGM	5837	broad.mit.edu	37	chr11	64527250	64527250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacattgcggtcctttaCgagtgtgaaatgcaggtgcc	13	10	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:64527250C>T	uc001oax.3	-	1	938	c.121G>A	c.(121-123)GTA>ATA	p.V41I	PYGM_uc001oay.3_Missense_Mutation_p.V41I	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	41					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	CGGTCCTTTACGAGTGTGAAA	0.577													T	64527250	C	T	64527250	3	4	55	1	0	0	0	0	1	0	0	0	12862	536	19	1	2487	1	PYGM	11	64527250	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	390061	64527250	70479266	992	42340											
SNX15	29907	broad.mit.edu	37	chr11	64803137	64803137	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccccttctccaaggaaggTaatgagctgggacagccggg	14	11	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:64803137T>C	uc001oci.3	+	9	1317	c.664_splice	c.e9+2	p.E222_splice	SNX15_uc009ypy.2_Splice_Site_p.E222_splice|SNX15_uc001ocj.2_Splice_Site_p.E222_splice|SNX15_uc001ock.2_Splice_Site_p.G222_splice	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	sorting nexin 15 isoform A						cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			ovary(1)	1						CCAAGGAAGGTAATGAGCTGG	0.637													C	64803137	T	C	64803137	5	2	55	1	0	0	0	0	0	0	1	0	14886	1652	57	3	688	3	SNX15	11	64803137	Splice_Site	SNP	T	TCGA-BR-7851-01A-11D-2201-08	275887	64803137	70203379	993	42341											
ZFPL1	7542	broad.mit.edu	37	chr11	64854021	64854021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctggccccgtggcctccGcactgagagagaagctggcc	15	14	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:64854021G>A	uc001ocq.1	+	4	514	c.349G>A	c.(349-351)GCA>ACA	p.A117T	CDCA5_uc001ocp.2_5'Flank	NM_006782	NP_006773	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	117	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			ovary(1)	1						CGTGGCCTCCGCACTGAGAGA	0.657													A	64854021	G	A	64854021	3	1	55	1	0	0	0	0	1	0	0	0	17653	1087	38	1	359	1	ZFPL1	11	64854021	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	50884	64854021	70152495	994	42342											
MAP3K11	4296	broad.mit.edu	37	chr11	65367021	65367021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctcggtcgggcagggcgCgggcgttggcgtggggggtg	25	9	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:65367021C>T	uc001oew.2	-	9	2543	c.2050G>A	c.(2050-2052)GCG>ACG	p.A684T	MAP3K11_uc001oev.2_Missense_Mutation_p.A100T|MAP3K11_uc010rol.1_Missense_Mutation_p.A427T|MAP3K11_uc001oex.1_Missense_Mutation_p.A191T	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	684	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						GGGCAGGGCGCGGGCGTTGGC	0.751													T	65367021	C	T	65367021	3	4	55	1	0	0	0	0	1	0	0	0	9245	768	27	1	501	1	MAP3K11	11	65367021	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	513000	65367021	69639495	995	42343											
CFL1	1072	broad.mit.edu	37	chr11	65623611	65623611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcactcaggcagaagagcaCcgccttcttgcgcttcttca	8	15	5	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:65623611C>T	uc001ofs.2	-	2	340	c.106G>A	c.(106-108)GTG>ATG	p.V36M	CFL1_uc001oft.2_Missense_Mutation_p.V36M|CFL1_uc001ofu.2_3'UTR	NM_005507	NP_005498	P23528	COF1_HUMAN	cofilin 1 (non-muscle)	36	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding				0				READ - Rectum adenocarcinoma(159;0.169)		CAGAAGAGCACCGCCTTCTTG	0.567													T	65623611	C	T	65623611	3	4	55	1	0	0	0	0	1	0	0	0	3290	507	18	4	406	4	CFL1	11	65623611	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	256590	65623611	69382905	996	42344											
FIBP	9158	broad.mit.edu	37	chr11	65651890	65651890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcgagggagtggacagacGctgaatactgattcaggaag	14	7	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:65651890G>A	uc001ogd.2	-	9	1119	c.998C>T	c.(997-999)GCG>GTG	p.A333V	FIBP_uc009yqu.2_Silent_p.S318S|FIBP_uc001oge.2_Missense_Mutation_p.A326V	NM_198897	NP_942600	O43427	FIBP_HUMAN	FGF intracellular binding protein isoform a	333					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.166)		GTGGACAGACGCTGAATACTG	0.612											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	65651890	G	A	65651890	3	1	55	1	0	0	0	0	1	0	0	0	5886	1087	38	1	104	1	FIBP	11	65651890	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	28279	65651890	69354626	997	42345											
SART1	9092	broad.mit.edu	37	chr11	65732567	65732567	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggccccccttccagaggcGggcaccaaggaggagcccgt	15	15	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:65732567G>T	uc001ogl.2	+	4	524	c.432G>T	c.(430-432)GCG>GCT	p.A144A	SART1_uc010rot.1_5'UTR	NM_005146	NP_005137	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T	144					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				ovary(1)	1						TTCCAGAGGCGGGCACCAAGG	0.672													T	65732567	G	T	65732567	2	4	55	1	0	0	0	0	0	0	0	1	13846	1103	39	5		5	SART1	11	65732567	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	80677	65732567	69273949	998	42346											
CD248	57124	broad.mit.edu	37	chr11	66084234	66084234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcattgccgggcctgccGctgcagcccgatccacagca	12	17	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:66084234G>A	uc001ohm.1	-	1	282	c.265C>T	c.(265-267)CGG>TGG	p.R89W		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	89	C-type lectin.|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	CGGGCCTGCCGCTGCAGCCCG	0.726													A	66084234	G	A	66084234	3	1	55	1	0	0	0	0	1	0	0	0	2989	1086	38	1	2012	1	CD248	11	66084234	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	351667	66084234	68922282	999	42347											
ACTN3	89	broad.mit.edu	37	chr11	66327746	66327746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccgtggaggacctgcaGgacgtgtggctggtacactc	17	10	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:66327746G>A	uc001oio.1	+	14	1659	c.1641G>A	c.(1639-1641)CAG>CAA	p.Q547Q	ACTN3_uc010rpi.1_RNA	NM_001104	NP_001095	Q08043	ACTN3_HUMAN	actinin, alpha 3	547	Spectrin 3.				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle				0						AGGACCTGCAGGACGTGTGGC	0.622													A	66327746	G	A	66327746	2	1	55	1	0	0	0	0	0	0	0	1	206	991	35	4		4	ACTN3	11	66327746	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	243512	66327746	68678770	1000	42348											
RCE1	9986	broad.mit.edu	37	chr11	66611801	66611801	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctctctatggattgcccTtgtgacctggcagatgggct	12	11	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:66611801T>C	uc001ojk.1	+	4	461	c.417T>C	c.(415-417)CCT>CCC	p.P139P	RCE1_uc001ojl.1_Silent_p.P35P	NM_005133	NP_005124	Q9Y256	FACE2_HUMAN	prenyl protein peptidase RCE1 isoform 1	139					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			ovary(1)|breast(1)	2						TGGATTGCCCTTGTGACCTGG	0.537													C	66611801	T	C	66611801	2	2	55	1	0	0	0	0	0	0	0	1	13176	1596	56	3		3	RCE1	11	66611801	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	284055	66611801	68394715	1001	42349											
PPP1CA	5499	broad.mit.edu	37	chr11	67168671	67168671	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggccgcgagccctgcaCtggggcgcaatggggtgtca	17	13	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:67168671C>T	uc001okw.1	-	2	179	c.56_splice	c.e2-1	p.V19_splice	PPP1CA_uc009yro.1_Splice_Site|PPP1CA_uc001okt.1_Missense_Mutation_p.V24M|PPP1CA_uc001oku.1_Missense_Mutation_p.V30M|PPP1CA_uc001okv.1_Intron|PPP1CA_uc001okx.1_Splice_Site_p.V107_splice|PPP1CA_uc001oky.2_Splice_Site_p.V19_splice|TBC1D10C_uc001okz.2_5'Flank|TBC1D10C_uc001ola.2_5'Flank|TBC1D10C_uc001olb.2_5'Flank	NM_002708	NP_002699	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha						cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GAGCCCTGCACTGGGGCGCAA	0.642													T	67168671	C	T	67168671	5	4	55	1	0	0	0	0	0	0	1	0	12349	579	20	4	961	4	PPP1CA	11	67168671	Splice_Site	SNP	C	TCGA-BR-7851-01A-11D-2201-08	556870	67168671	67837845	1002	42350											
CABP4	57010	broad.mit.edu	37	chr11	67223133	67223133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccagcactggagaggggcCggcgggcgcaccccctgcat	15	16	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:67223133C>T	uc001olo.2	+	1	316	c.239C>T	c.(238-240)CCG>CTG	p.P80L	GPR152_uc001olm.2_5'Flank|CABP4_uc001oln.2_Intron	NM_145200	NP_660201	P57796	CABP4_HUMAN	calcium binding protein 4	80					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGAGAGGGGCCGGCGGGCGCA	0.701													T	67223133	C	T	67223133	3	4	55	1	0	0	0	0	1	0	0	0	2533	652	23	1	241	1	CABP4	11	67223133	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	54462	67223133	67783383	1003	42351											
TCIRG1	10312	broad.mit.edu	37	chr11	67808841	67808841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgggcgagctgggcctcGtggagttcagagacgtgagt	19	8	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:67808841G>A	uc001one.2	+	2	211	c.103G>A	c.(103-105)GTG>ATG	p.V35M	TCIRG1_uc001ond.1_Missense_Mutation_p.V35M|TCIRG1_uc001onf.1_Missense_Mutation_p.V35M|TCIRG1_uc001ong.2_5'Flank|TCIRG1_uc001onh.2_5'Flank|TCIRG1_uc001oni.2_5'Flank	NM_006019	NP_006010	Q13488	VPP3_HUMAN	T-cell, immune regulator 1 isoform a	35	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			ovary(1)	1						GCTGGGCCTCGTGGAGTTCAG	0.687													A	67808841	G	A	67808841	3	1	55	1	0	0	0	0	1	0	0	0	15700	1145	40	1	105	1	TCIRG1	11	67808841	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	585708	67808841	67197675	1004	42352											
SUV420H1	51111	broad.mit.edu	37	chr11	67926307	67926307	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcacccgctggcaactgcGgcttgggctggtccctctgg	14	14	1	0	rs145782213	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:67926307G>A	uc001onm.1	-	11	1762	c.1506C>T	c.(1504-1506)GCC>GCT	p.A502A	SUV420H1_uc009yse.1_Silent_p.A88A|SUV420H1_uc001onn.1_Silent_p.A330A|SUV420H1_uc009ysf.2_Silent_p.A262A	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						TGGCAACTGCGGCTTGGGCTG	0.507													A	67926307	G	A	67926307	2	1	55	1	0	0	0	0	0	0	0	1	15411	1103	39	1		1	SUV420H1	11	67926307	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	117466	67926307	67080209	1005	42353											
LRP5	4041	broad.mit.edu	37	chr11	68191056	68191056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggacactgttctggacgtgcGaggccaccaataccatcaac	10	13	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:68191056G>A	uc001ont.2	+	14	3202	c.3127G>A	c.(3127-3129)GAG>AAG	p.E1043K	LRP5_uc009ysg.2_Missense_Mutation_p.E453K	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1043	LDL-receptor class B 17.|Beta-propeller 4.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CTGGACGTGCGAGGCCACCAA	0.622													A	68191056	G	A	68191056	3	1	55	1	0	0	0	0	1	0	0	0	8960	1059	37	1	3181	1	LRP5	11	68191056	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	264749	68191056	66815460	1006	42354											
SHANK2	22941	broad.mit.edu	37	chr11	70331662	70331662	+	Frame_Shift_Del	DEL	G	G	-													gcgggggcgggggagcgggcGgggggataacaaagctatct							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:70331662delG	uc001oqc.2	-	21	4814	c.4736delC	c.(4735-4737)CCGfs	p.P1579fs	SHANK2_uc010rqn.1_Frame_Shift_Del_p.P991fs|SHANK2_uc001opz.2_Frame_Shift_Del_p.P984fs|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1200					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			gggagcgggcggggggATAAC	0.413													-	70331662	G	-	70331662	7	5	55	1	0	1	0	1	0	0	0	0	14265	1116	39	0	821	0	SHANK2	11	70331662	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	2140606	70331662	64674854	1007	42355											
INPPL1	3636	broad.mit.edu	37	chr11	71948209	71948209	+	Frame_Shift_Del	DEL	C	C	-													tgaaccagaaggggtggcggCccccccacccaagaacagct							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:71948208_71948208GC>G	uc001osf.3	+	25	3067	c.2920_2920GC>G	c.(2920-2922)gccfs	p.A974fs	INPPL1_uc001osg.3_Frame_Shift_Del_p.A732fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	974	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding	p.P977fs*7(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGGGGTGGCGGCCCCCCCACC	0.632													-	71948209	C	-	71948209	7	5	55	1	0	1	0	1	0	0	0	0	7761	739	26	0	3023	0	INPPL1	11	71948209	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	1616547	71948209	63058307	1008	42356											
CLPB	81570	broad.mit.edu	37	chr11	72004579	72004579	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcttgtctgagtcctccacCgtgatgcgcaaagtacagcc	10	13	1	2	rs140281600		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:72004579C>A	uc001osj.2	-	17	2006	c.1956G>T	c.(1954-1956)ACG>ACT	p.T652T	CLPB_uc010rqx.1_Silent_p.T607T|CLPB_uc010rqy.1_Silent_p.T593T|CLPB_uc001osk.2_Silent_p.T622T|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Silent_p.T451T|CLPB_uc001osi.2_Silent_p.T260T	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B	652					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1						AGTCCTCCACCGTGATGCGCA	0.607													A	72004579	C	A	72004579	2	1	55	1	0	0	0	0	0	0	0	1	3551	639	23	5		5	CLPB	11	72004579	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	56370	72004579	63001937	1009	42357											
P2RY2	5029	broad.mit.edu	37	chr11	72946051	72946051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagctgccacaccctcaacGccatcaacatggcctacaag	6	17	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:72946051G>A	uc001otj.2	+	3	1180	c.847G>A	c.(847-849)GCC>ACC	p.A283T	P2RY2_uc001otk.2_Missense_Mutation_p.A283T|P2RY2_uc001otl.2_Missense_Mutation_p.A283T	NM_002564	NP_002555	P41231	P2RY2_HUMAN	purinergic receptor P2Y2	283	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(1)|skin(1)	4					Suramin(DB04786)	CACCCTCAACGCCATCAACAT	0.617													A	72946051	G	A	72946051	3	1	55	1	0	0	0	0	1	0	0	0	11352	1087	38	1	849	1	P2RY2	11	72946051	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	941472	72946051	62060465	1010	42358											
P2RY6	5031	broad.mit.edu	37	chr11	73007984	73007984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggcacaaacgtgggggcCgccgggctgcctggctagtg	17	13	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:73007984C>T	uc001otm.2	+	4	826	c.421C>T	c.(421-423)CGC>TGC	p.R141C	P2RY6_uc001otn.2_Missense_Mutation_p.R141C|P2RY6_uc001oto.2_Missense_Mutation_p.R141C|P2RY6_uc001otp.2_Missense_Mutation_p.R141C|P2RY6_uc001otq.2_Missense_Mutation_p.R141C|P2RY6_uc001otr.2_Missense_Mutation_p.R141C|P2RY6_uc001ots.2_Missense_Mutation_p.R141C	NM_176796	NP_789766	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y6	141	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1						ACGTGGGGGCCGCCGGGCTGC	0.662													T	73007984	C	T	73007984	3	4	55	1	0	0	0	0	1	0	0	0	11354	652	23	1	423	1	P2RY6	11	73007984	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	61933	73007984	61998532	1011	42359											
DNAJB13	374407	broad.mit.edu	37	chr11	73662142	73662142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggattattactctgtgctcGggatcactcgcaattcagag	10	9	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:73662142G>A	uc001ouo.2	+	1	779	c.28G>A	c.(28-30)GGG>AGG	p.G10R		NM_153614	NP_705842	P59910	DJB13_HUMAN	testis spermatogenesis apoptosis-related protein	10	J.				apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding				0	Breast(11;7.42e-05)					CTCTGTGCTCGGGATCACTCG	0.582													A	73662142	G	A	73662142	3	1	55	1	0	0	0	0	1	0	0	0	4618	1116	39	1	30	1	DNAJB13	11	73662142	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	654158	73662142	61344374	1012	42360											
UVRAG	7405	broad.mit.edu	37	chr11	75562938	75562938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatttttcagcggcgtcttcGacatcttcggaacattgctg	9	10	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:75562938G>A	uc001oxc.2	+	2	369	c.128G>A	c.(127-129)CGA>CAA	p.R43Q	UVRAG_uc010rrw.1_5'UTR	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	43					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			skin(4)|lung(2)	6						CGGCGTCTTCGACATCTTCGG	0.363													A	75562938	G	A	75562938	3	1	55	1	0	0	0	0	1	0	0	0	17105	1058	37	1	134	1	UVRAG	11	75562938	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1900796	75562938	59443578	1013	42361											
GDPD4	220032	broad.mit.edu	37	chr11	76944092	76944092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaagtgagggtgatcaAgctgactcaggagcccaatg	14	7	2	5			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:76944092A>G	uc001oyf.2	-	13	1618	c.1367T>C	c.(1366-1368)CTT>CCT	p.L456P		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain	456	Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			skin(1)	1						AGGGTGATCAAGCTGACTCAG	0.527													G	76944092	A	G	76944092	3	3	55	1	0	0	0	0	1	0	0	0	6326	72	3	3	211	3	GDPD4	11	76944092	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1381154	76944092	58062424	1014	42362											
GAB2	9846	broad.mit.edu	37	chr11	77934561	77934561	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgttgatgggtagccaagTgagtcaaagtgatgggcccc	15	7	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:77934561T>C	uc001ozh.2	-	6	1464	c.1464A>G	c.(1462-1464)TCA>TCG	p.S488S	GAB2_uc001ozg.2_Silent_p.S450S	NM_080491	NP_536739	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2 isoform a	488					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity			ovary(5)|lung(1)	6	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGTAGCCAAGTGAGTCAAAGT	0.557													C	77934561	T	C	77934561	2	2	55	1	0	0	0	0	0	0	0	1	6149	1683	59	3		3	GAB2	11	77934561	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	990469	77934561	57071955	1015	42363											
GAB2	9846	broad.mit.edu	37	chr11	77937650	77937650	+	Frame_Shift_Del	DEL	G	G	-													gtttctgcctgacttggcttGggggggcggggtgggggagc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:77937649_77937649TG>T	uc001ozh.3	-	3	1171	c.1069_1069CA>A	c.(1069-1071)aagfs	p.K357fs	GAB2_uc001ozg.3_Frame_Shift_Del_p.K319fs	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	357					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TGACTTGGCTTGGGGGGGCGG	0.577													-	77937650	G	-	77937650	7	5	55	1	0	1	0	1	0	0	0	0	6149	1335	47	0	990	0	GAB2	11	77937650	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	3089	77937650	57068866	1016	42364											
PRCP	5547	broad.mit.edu	37	chr11	82561043	82561043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctaaaatctgtagttaCgatcttcataaatacaccac	3	10	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:82561043C>T	uc001ozs.2	-	5	777	c.664G>A	c.(664-666)GTA>ATA	p.V222I	PRCP_uc001ozr.2_Missense_Mutation_p.V243I	NM_005040	NP_005031	P42785	PCP_HUMAN	prolylcarboxypeptidase isoform 1 preproprotein	222	SKS domain.				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			skin(1)	1						TCTGTAGTTACGATCTTCATA	0.403													T	82561043	C	T	82561043	3	4	55	1	0	0	0	0	1	0	0	0	12449	536	19	1	846	1	PRCP	11	82561043	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	4623393	82561043	52445473	1017	42365											
C11orf82	220042	broad.mit.edu	37	chr11	82644690	82644690	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatagtcaagactttgttccAtgttcacagtcaactccaat	5	10	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:82644690A>G	uc001ozt.2	+	6	2554	c.2310A>G	c.(2308-2310)CCA>CCG	p.P770P	C11orf82_uc010rsr.1_Silent_p.P469P|C11orf82_uc010rss.1_Silent_p.P469P|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	770					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2						ACTTTGTTCCATGTTCACAGT	0.353													G	82644690	A	G	82644690	2	3	55	1	0	0	0	0	0	0	0	1	1665	204	8	3		3	C11orf82	11	82644690	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	83647	82644690	52361826	1018	42366											
DLG2	1740	broad.mit.edu	37	chr11	83770433	83770433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacgcacatacagccgaaCgatagaccctgcttccttca	6	15	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:83770433C>T	uc001paj.2	-	6	832	c.529G>A	c.(529-531)GTT>ATT	p.V177I	DLG2_uc001pai.2_Missense_Mutation_p.V126I|DLG2_uc010rsy.1_Missense_Mutation_p.V144I|DLG2_uc010rsz.1_Missense_Mutation_p.V177I|DLG2_uc010rta.1_Missense_Mutation_p.V177I|DLG2_uc001pak.2_Missense_Mutation_p.V282I|DLG2_uc010rtb.1_Missense_Mutation_p.V144I|DLG2_uc001pal.1_Missense_Mutation_p.V177I|DLG2_uc001pam.1_Missense_Mutation_p.V216I	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	177	PDZ 1.			V -> A (in Ref. 1; AAB04949).		cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TACAGCCGAACGATAGACCCT	0.453													T	83770433	C	T	83770433	3	4	55	1	0	0	0	0	1	0	0	0	4555	536	19	1	2205	1	DLG2	11	83770433	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1125743	83770433	51236083	1019	42367											
CCDC89	220388	broad.mit.edu	37	chr11	85396668	85396668	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcgcctcctcatccttcAgagcctggctgaagaggctg	10	14	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:85396668A>G	uc001pau.1	-	1	653	c.506T>C	c.(505-507)CTG>CCG	p.L169P		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	169	Potential.					cytoplasm|nucleus					0		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTCATCCTTCAGAGCCTGGCT	0.537													G	85396668	A	G	85396668	3	3	55	1	0	0	0	0	1	0	0	0	2866	188	7	3	622	3	CCDC89	11	85396668	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1626235	85396668	49609848	1020	42368											
GRM5	2915	broad.mit.edu	37	chr11	88583111	88583111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcccgctagacccaggcGcctcatggccatcagcagac	9	17	3	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:88583111G>A	uc001pcq.2	-	2	1074	c.874C>T	c.(874-876)CGC>TGC	p.R292C	GRM5_uc009yvm.2_Missense_Mutation_p.R292C	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	292	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AGACCCAGGCGCCTCATGGCC	0.522													A	88583111	G	A	88583111	3	1	55	1	0	0	0	0	1	0	0	0	6800	1087	38	1	2796	1	GRM5	11	88583111	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3186443	88583111	46423405	1021	42369											
FAT3	120114	broad.mit.edu	37	chr11	92533683	92533683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttttcacaaagcacatacGtagctgaggtgagagagaac	10	9	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:92533683G>A	uc001pdj.3	+	9	7521	c.7504G>A	c.(7504-7506)GTA>ATA	p.V2502I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2502	Cadherin 23.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAGCACATACGTAGCTGAGGT	0.498										TCGA Ovarian(4;0.039)			A	92533683	G	A	92533683	3	1	55	1	0	0	0	0	1	0	0	0	5691	1145	40	1	7538	1	FAT3	11	92533683	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3950572	92533683	42472833	1022	42370											
MTNR1B	4544	broad.mit.edu	37	chr11	92703084	92703084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcctggtgatcctctccGtgctcaggaaccgcaagctc	9	16	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:92703084G>A	uc001pdk.1	+	1	296	c.193G>A	c.(193-195)GTG>ATG	p.V65M		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	65	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	GATCCTCTCCGTGCTCAGGAA	0.647													A	92703084	G	A	92703084	3	1	55	1	0	0	0	0	1	0	0	0	9952	1145	40	1	195	1	MTNR1B	11	92703084	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	169401	92703084	42303432	1023	42371											
PANX1	24145	broad.mit.edu	37	chr11	93912987	93912987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatcagggatcctgagaaaCgacagcaccgtgcccgatca	10	12	2	1	rs74832612	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:93912987C>T	uc001per.2	+	4	1150	c.765C>T	c.(763-765)AAC>AAT	p.N255N	PANX1_uc001peq.2_Silent_p.N255N	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	pannexin 1	255	Extracellular (Potential).			N->Q: Impairs glycosylation.	positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCCTGAGAAACGACAGCACCG	0.488													T	93912987	C	T	93912987	2	4	55	1	0	0	0	0	0	0	0	1	11420	535	19	1		1	PANX1	11	93912987	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1209903	93912987	41093529	1024	42372											
ANKRD49	54851	broad.mit.edu	37	chr11	94231635	94231635	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgatattgccaggaggacAagtatctatcactacctctt	7	9	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:94231635A>G	uc001pew.2	+	3	796	c.657A>G	c.(655-657)ACA>ACG	p.T219T	ANKRD49_uc001pex.2_3'UTR|ANKRD49_uc001pey.2_RNA	NM_017704	NP_060174	Q8WVL7	ANR49_HUMAN	fetal globin inducing factor	219					positive regulation of transcription, DNA-dependent					central_nervous_system(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCAGGAGGACAAGTATCTATC	0.393													G	94231635	A	G	94231635	2	3	55	1	0	0	0	0	0	0	0	1	675	117	5	3		3	ANKRD49	11	94231635	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	318648	94231635	40774881	1025	42373											
SFRS2B	10929	broad.mit.edu	37	chr11	94800992	94800992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagtaactctcgctacagCcgatatcacagcagccggtc	8	14	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:94800992C>T	uc001pff.2	+	2	938	c.603C>T	c.(601-603)AGC>AGT	p.S201S	SFRS2B_uc001pfg.1_5'Flank	NM_032102	NP_115285	Q9BRL6	SRSF8_HUMAN	splicing factor, arginine/serine-rich 2B	201	Arg-rich.				mRNA processing|RNA splicing	nucleus	nucleotide binding|RNA binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTCGCTACAGCCGATATCACA	0.562													T	94800992	C	T	94800992	2	4	55	1	0	0	0	0	0	0	0	1	14176	739	26	2		2	SFRS2B	11	94800992	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	569357	94800992	40205524	1026	42374											
MMP20	9313	broad.mit.edu	37	chr11	102487787	102487787	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtaatatttgtcaagatAcgcctgaaatggagaggcag	12	5	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:102487787A>G	uc001phc.2	-	2	143	c.130T>C	c.(130-132)TAT>CAT	p.Y44H		NM_004771	NP_004762	O60882	MMP20_HUMAN	matrix metalloproteinase 20 preproprotein	44					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			urinary_tract(1)|skin(1)	2	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TTGTCAAGATACGCCTGAAAT	0.448													G	102487787	A	G	102487787	3	3	55	1	0	0	0	0	1	0	0	0	9659	391	14	3	1357	3	MMP20	11	102487787	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	7686795	102487787	32518729	1027	42375											
MMP10	4319	broad.mit.edu	37	chr11	102650323	102650323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactccacacctgggcttgcGcatcacctccagagtgtcag	9	15	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:102650323G>A	uc001phg.1	-	2	281	c.259C>T	c.(259-261)CGC>TGC	p.R87C		NM_002425	NP_002416	P09238	MMP10_HUMAN	matrix metalloproteinase 10 preproprotein	87					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CTGGGCTTGCGCATCACCTCC	0.488													A	102650323	G	A	102650323	3	1	55	1	0	0	0	0	1	0	0	0	9649	1087	38	1	1207	1	MMP10	11	102650323	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	162536	102650323	32356193	1028	42376											
GRIA4	2893	broad.mit.edu	37	chr11	105623740	105623740	+	Frame_Shift_Del	DEL	T	T	-													ttctagaggagtatttgccaTttttggactctatgataaga							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:105623739_105623739AT>A	uc001pix.2	+	3	726	c.280_280AT>A	c.(280-282)attfs	p.I94fs	GRIA4_uc001piu.1_Frame_Shift_Del_p.I94fs|GRIA4_uc001piw.2_Frame_Shift_Del_p.I94fs|GRIA4_uc001piv.3_Frame_Shift_Del_p.I94fs|GRIA4_uc009yxk.1_Frame_Shift_Del_p.I94fs	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	94					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AGTATTTGCCATTTTTGGACT	0.423													-	105623740	T	-	105623740	7	5	55	1	0	1	0	1	0	0	0	0	6770	1493	52	0	291	0	GRIA4	11	105623740	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	2973417	105623740	29382776	1029	42377											
CWF19L2	143884	broad.mit.edu	37	chr11	107299920	107299920	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttagattctcttctacaCgtttctaaagacccaggtct	8	10	4	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:107299920C>T	uc010rvp.1	-	8	1068	c.1038G>A	c.(1036-1038)ACG>ACA	p.T346T	CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control	346							catalytic activity				0		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CTCTTCTACACGTTTCTAAAG	0.348													T	107299920	C	T	107299920	2	4	55	1	0	0	0	0	0	0	0	1	4072	523	19	1		1	CWF19L2	11	107299920	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1676180	107299920	27706596	1030	42378											
ATM	472	broad.mit.edu	37	chr11	108115583	108115583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcttcctcaagactttggCtgtcaactttcgaattcgag	7	10	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:108115583C>T	uc001pkb.1	+	7	1116	c.731C>T	c.(730-732)GCT>GTT	p.A244V	ATM_uc009yxr.1_Missense_Mutation_p.A244V	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	244					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AAGACTTTGGCTGTCAACTTT	0.363			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			T	108115583	C	T	108115583	3	4	55	1	0	0	0	0	1	0	0	0	1109	797	28	2	753	2	ATM	11	108115583	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	815663	108115583	26890933	1031	42379											
USP28	57646	broad.mit.edu	37	chr11	113704197	113704197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagatccagggctgcagacGggtctacaaattttctattt	9	8	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:113704197G>A	uc001poh.2	-	7	737	c.704C>T	c.(703-705)CCG>CTG	p.P235L	USP28_uc010rwy.1_Missense_Mutation_p.P110L|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.P235L|USP28_uc010rwz.1_Missense_Mutation_p.P235L	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	235					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GGCTGCAGACGGGTCTACAAA	0.398													A	113704197	G	A	113704197	3	1	55	1	0	0	0	0	1	0	0	0	17055	1116	39	1	2605	1	USP28	11	113704197	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5588614	113704197	21302319	1032	42380											
APOA5	116519	broad.mit.edu	37	chr11	116661360	116661360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccgctcaccaggctctcGgcgtatgggtggaagagctc	14	12	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:116661360G>A	uc001ppr.2	-	3	593	c.585C>T	c.(583-585)GCC>GCT	p.A195A	ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Silent_p.A195A|APOA5_uc009yzf.2_Silent_p.A195A|APOA5_uc009yzg.2_Silent_p.A221A	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN	apolipoprotein AV precursor	195					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding				0	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CCAGGCTCTCGGCGTATGGGT	0.711													A	116661360	G	A	116661360	2	1	55	1	0	0	0	0	0	0	0	1	784	1103	39	1		1	APOA5	11	116661360	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2957163	116661360	18345156	1033	42381											
APOA4	337	broad.mit.edu	37	chr11	116692251	116692251	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcctcagcgaggcctgcaGgctgtcggcgttctcccgca	15	15	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:116692251G>T	uc001pps.1	-	3	627	c.523C>A	c.(523-525)CTG>ATG	p.L175M		NM_000482	NP_000473			apolipoprotein A-IV precursor												0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GAGGCCTGCAGGCTGTCGGCG	0.672													T	116692251	G	T	116692251	3	4	55	1	0	0	0	0	1	0	0	0	783	991	35	5	671	5	APOA4	11	116692251	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	30891	116692251	18314265	1034	42382											
SIK3	23387	broad.mit.edu	37	chr11	116730138	116730138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcctgcagctgtgcctgGcatgttgctgagcatgtcaa	14	10	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:116730138G>A	uc001ppy.2	-	19	2326	c.2290C>T	c.(2290-2292)CCA>TCA	p.P764S	SIK3_uc001ppz.2_Missense_Mutation_p.P663S|SIK3_uc001pqa.2_Missense_Mutation_p.P764S|SIK3_uc001ppw.2_Missense_Mutation_p.P181S|SIK3_uc001ppx.2_Missense_Mutation_p.P202S|SIK3_uc001pqb.2_Missense_Mutation_p.P67S	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	764	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						GCTGTGCCTGGCATGTTGCTG	0.597											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	116730138	G	A	116730138	3	1	55	1	0	0	0	0	1	0	0	0	14319	1203	42	2	1521	2	SIK3	11	116730138	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	37887	116730138	18276378	1035	42383											
CEP164	22897	broad.mit.edu	37	chr11	117253626	117253626	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcctgaggagaaggtggcGgtcagccccaccccgccagt	14	14	1	2	rs143512199	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:117253626G>A	uc001prc.2	+	14	1839	c.1692G>A	c.(1690-1692)GCG>GCA	p.A564A	CEP164_uc001prb.2_Silent_p.A567A|CEP164_uc010rxk.1_Silent_p.A538A|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_5'Flank	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	564	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGAAGGTGGCGGTCAGCCCCA	0.632													A	117253626	G	A	117253626	2	1	55	1	0	0	0	0	0	0	0	1	3249	1103	39	1		1	CEP164	11	117253626	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	523488	117253626	17752890	1036	42384											
CEP164	22897	broad.mit.edu	37	chr11	117265117	117265117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgaccggagagctggagCgcctgcagagggcccatgaa	15	12	0	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:117265117C>T	uc001prc.2	+	21	2815	c.2668C>T	c.(2668-2670)CGC>TGC	p.R890C	CEP164_uc001prb.2_Missense_Mutation_p.R893C|CEP164_uc010rxk.1_Missense_Mutation_p.R864C|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.R323C	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	890	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGAGCTGGAGCGCCTGCAGAG	0.662													T	117265117	C	T	117265117	3	4	55	1	0	0	0	0	1	0	0	0	3249	768	27	1	2742	1	CEP164	11	117265117	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	11491	117265117	17741399	1037	42385											
CEP164	22897	broad.mit.edu	37	chr11	117267320	117267320	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcaaggaggacttatacTtggacaggtgagttcccata	12	7	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:117267320T>G	uc001prc.2	+	26	3418	c.3271T>G	c.(3271-3273)TTG>GTG	p.L1091V	CEP164_uc001prb.2_Missense_Mutation_p.L1094V|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.L524V	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1091					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GGACTTATACTTGGACAGGTG	0.483													G	117267320	T	G	117267320	3	3	55	1	0	0	0	0	1	0	0	0	3249	1606	56	5	3365	5	CEP164	11	117267320	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	2203	117267320	17739196	1038	42386											
DSCAML1	57453	broad.mit.edu	37	chr11	117376306	117376306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgctctcgatggtcacgCccgagcctgagatgatcacc	10	15	3	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:117376306C>T	uc001prh.1	-	9	2107	c.2105G>A	c.(2104-2106)GGC>GAC	p.G702D		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	642	Extracellular (Potential).|Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GATGGTCACGCCCGAGCCTGA	0.577													T	117376306	C	T	117376306	3	4	55	1	0	0	0	0	1	0	0	0	4769	739	26	2	4336	2	DSCAML1	11	117376306	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	108986	117376306	17630210	1039	42387											
DPAGT1	1798	broad.mit.edu	37	chr11	118969143	118969144	+	Frame_Shift_Ins	INS	-	-	A													gagcaatcccaaagtggtgaINSaaaaaaagggtatcatgaag					rs35482889		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:118969142_118969143G>GA	uc001pvi.3	-	4	1118_1119	c.698_699C>TC	c.(697-699)ttcfs	p.F233fs	H2AFX_uc001pvg.3_5'Flank|DPAGT1_uc001pvj.3_Frame_Shift_Ins_p.F126fs|DPAGT1_uc001pvk.3_Frame_Shift_Ins_p.F61fs|DPAGT1_uc001pvm.1_Frame_Shift_Ins_p.F126fs|DPAGT1_uc010rza.2_Frame_Shift_Ins_p.F126fs	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN	Homo sapiens dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) (DPAGT1), mRNA.	233					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity|phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups	p.?(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CCAAAGTGGTGAAAAAAAAGGG	0.441													A	118969144	-	A	118969143	7	5	55	1	0	1	1	0	0	0	0	0	4710	246	9	0	548	0	DPAGT1	11	118969143	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	1592837	118969143	16037373	1040	42388											
MFRP	83552	broad.mit.edu	37	chr11	119213688	119213688	+	Frame_Shift_Del	DEL	G	G	-													atggtgcgaggagacgaggtGggggggtggctctgctccac							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:119213688delG	uc001pwj.2	-	10	1310	c.1150delC	c.(1150-1152)CACfs	p.H384fs	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Frame_Shift_Del_p.P308fs	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GAGACGAGGTGGGGGGGTGGC	0.622													-	119213688	G	-	119213688	7	5	55	1	0	1	0	1	0	0	0	0	9526	1348	47	0	605	0	MFRP	11	119213688	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	244545	119213688	15792828	1041	42389											
USP2	9099	broad.mit.edu	37	chr11	119243494	119243494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctcccacagcgtgtagcGgccaatgggtcggtaggttg	15	11	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:119243494G>A	uc001pwm.3	-	2	992	c.697C>T	c.(697-699)CGC>TGC	p.R233C	USP2_uc001pwn.3_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	233					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGCGTGTAGCGGCCAATGGGT	0.647													A	119243494	G	A	119243494	3	1	55	1	0	0	0	0	1	0	0	0	17048	1116	39	1	1319	1	USP2	11	119243494	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	29806	119243494	15763022	1042	42390											
GRIK4	2900	broad.mit.edu	37	chr11	120702624	120702624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggacacgctgtccgtccGcatgctggatgacacccggg	13	14	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:120702624G>A	uc001pxn.2	+	7	862	c.575G>A	c.(574-576)CGC>CAC	p.R192H	GRIK4_uc009zav.1_Missense_Mutation_p.R192H|GRIK4_uc009zaw.1_Missense_Mutation_p.R192H|GRIK4_uc009zax.1_Missense_Mutation_p.R192H	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	192	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CTGTCCGTCCGCATGCTGGAT	0.607													A	120702624	G	A	120702624	3	1	55	1	0	0	0	0	1	0	0	0	6776	1087	38	1	593	1	GRIK4	11	120702624	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1459130	120702624	14303892	1043	42391											
UBASH3B	84959	broad.mit.edu	37	chr11	122659932	122659932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagggttggatctatggcaCgtccttaaccaccggctgct	12	12	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:122659932C>T	uc001pyi.3	+	6	1256	c.896C>T	c.(895-897)ACG>ATG	p.T299M		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing,	299	SH3.					cytoplasm|nucleus	protein tyrosine phosphatase activity			central_nervous_system(1)	1		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		ATCTATGGCACGTCCTTAACC	0.527													T	122659932	C	T	122659932	3	4	55	1	0	0	0	0	1	0	0	0	16837	536	19	1	918	1	UBASH3B	11	122659932	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1957308	122659932	12346584	1044	42392											
ROBO3	64221	broad.mit.edu	37	chr11	124738967	124738967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaaggtgtctacacttgcGtggctcgcaactacctgggg	13	11	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:124738967G>A	uc001qbc.2	+	2	622	c.430G>A	c.(430-432)GTG>ATG	p.V144M		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	144	Ig-like C2-type 1.|Extracellular (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CTACACTTGCGTGGCTCGCAA	0.682													A	124738967	G	A	124738967	3	1	55	1	0	0	0	0	1	0	0	0	13515	1145	40	1	436	1	ROBO3	11	124738967	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2079035	124738967	10267549	1045	42393											
ROBO4	54538	broad.mit.edu	37	chr11	124757063	124757063	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctaaggatggggatgggggCtgctggcagcaggatggagg	22	5	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:124757063C>A	uc001qbg.2	-	15	2385	c.2245G>T	c.(2245-2247)GCC>TCC	p.A749S	ROBO4_uc010sas.1_Missense_Mutation_p.A604S|ROBO4_uc001qbh.2_Missense_Mutation_p.A639S|ROBO4_uc001qbi.2_Missense_Mutation_p.A307S	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	749	Pro/Ser-rich.				angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGGATGGGGGCTGCTGGCAGC	0.637													A	124757063	C	A	124757063	3	1	55	1	0	0	0	0	1	0	0	0	13516	797	28	5	794	5	ROBO4	11	124757063	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	18096	124757063	10249453	1046	42394											
CCDC15	80071	broad.mit.edu	37	chr11	124845023	124845023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgaaacaggcacgtcaccGgctagcatcctttaaaaccg	8	12	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:124845023G>A	uc001qbm.3	+	5	807	c.548G>A	c.(547-549)CGG>CAG	p.R183Q		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	183	Potential.					centrosome				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		GCACGTCACCGGCTAGCATCC	0.383													A	124845023	G	A	124845023	3	1	55	1	0	0	0	0	1	0	0	0	2784	1116	39	1	562	1	CCDC15	11	124845023	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	87960	124845023	10161493	1047	42395											
PKNOX2	63876	broad.mit.edu	37	chr11	125281699	125281699	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataagaagtccaagaacaaaCgaggagtcttgcccaagcat	9	9	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:125281699C>T	uc001qbu.2	+	10	1188	c.874C>T	c.(874-876)CGA>TGA	p.R292*	PKNOX2_uc010saz.1_Nonsense_Mutation_p.R263*|PKNOX2_uc010sba.1_Nonsense_Mutation_p.R263*|PKNOX2_uc010sbb.1_Nonsense_Mutation_p.R228*|PKNOX2_uc001qbv.2_Nonsense_Mutation_p.R57*	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	292	Homeobox.					nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CAAGAACAAACGAGGAGTCTT	0.517													T	125281699	C	T	125281699	4	4	55	1	0	0	0	0	0	1	0	0	11983	528	19	1	900	1	PKNOX2	11	125281699	Nonsense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	436676	125281699	9724817	1048	42396											
SRPR	6734	broad.mit.edu	37	chr11	126135202	126135202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccccactccattaacgccGcagaaggtgacgacataagg	9	13	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:126135202G>A	uc001qdh.2	-	10	1323	c.1272C>T	c.(1270-1272)TGC>TGT	p.C424C	SRPR_uc010sbm.1_Silent_p.C396C	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	424					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CATTAACGCCGCAGAAGGTGA	0.532													A	126135202	G	A	126135202	2	1	55	1	0	0	0	0	0	0	0	1	15161	1079	38	1		1	SRPR	11	126135202	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	853503	126135202	8871314	1049	42397											
PRDM10	56980	broad.mit.edu	37	chr11	129802014	129802014	+	Missense_Mutation	SNP	T	T	A													tacctgtgtcccatcgtcacTcttttccccattttcgctgg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:129802014T>A	uc001qfm.2	-	10	1502	c.1270A>T	c.(1270-1272)AGT>TGT	p.S424C	PRDM10_uc001qfj.2_Missense_Mutation_p.S338C|PRDM10_uc001qfk.2_Missense_Mutation_p.S338C|PRDM10_uc001qfl.2_Missense_Mutation_p.S338C|PRDM10_uc010sbx.1_Missense_Mutation_p.S338C|PRDM10_uc001qfn.2_Missense_Mutation_p.S424C|PRDM10_uc009zct.1_Missense_Mutation_p.S456C	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CCATCGTCACTCTTTTCCCCA	0.582													A	129802014	T	A	129802014	3	1	55	1	0	0	0	0	1	0	0	0	12451	1551	54	5	2264	5	PRDM10	11	129802014	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	3666812	129802014	5204502	1050	42398	145	2									
PRDM10	56980	broad.mit.edu	37	chr11	129802017	129802017	+	Missense_Mutation	SNP	T	T	C													ctgtgtcccatcgtcactctTttccccattttcgctggtga							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:129802017T>C	uc001qfm.2	-	10	1499	c.1267A>G	c.(1267-1269)AAG>GAG	p.K423E	PRDM10_uc001qfj.2_Missense_Mutation_p.K337E|PRDM10_uc001qfk.2_Missense_Mutation_p.K337E|PRDM10_uc001qfl.2_Missense_Mutation_p.K337E|PRDM10_uc010sbx.1_Missense_Mutation_p.K337E|PRDM10_uc001qfn.2_Missense_Mutation_p.K423E|PRDM10_uc009zct.1_Missense_Mutation_p.K455E	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TCGTCACTCTTTTCCCCATTT	0.582													C	129802017	T	C	129802017	3	2	55	1	0	0	0	0	1	0	0	0	12451	1850	64	3	2267	3	PRDM10	11	129802017	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	3	129802017	5204499	1051	42399	145	2									
IGSF9B	22997	broad.mit.edu	37	chr11	133814114	133814114	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctggaagccgtcactcaCcgttgatggtgaggtggacc	13	12	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:133814114C>T	uc001qgx.3	-	3	640	c.409_splice	c.e3+1	p.A137_splice		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B							integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCGTCACTCACCGTTGATGGT	0.617													T	133814114	C	T	133814114	5	4	55	1	0	0	0	0	0	0	1	0	7606	521	18	4	3707	4	IGSF9B	11	133814114	Splice_Site	SNP	C	TCGA-BR-7851-01A-11D-2201-08	4012097	133814114	1192402	1052	42400											
NCAPD3	23310	broad.mit.edu	37	chr11	134063940	134063940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtaagagactggagggCctgcttccggacagacactg	13	10	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:134063940C>T	uc001qhd.1	-	15	2401	c.1795G>A	c.(1795-1797)GCC>ACC	p.A599T	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	599	HEAT 3.				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GACTGGAGGGCCTGCTTCCGG	0.443													T	134063940	C	T	134063940	3	4	55	1	0	0	0	0	1	0	0	0	10206	739	26	2	2785	2	NCAPD3	11	134063940	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	249826	134063940	942576	1053	42401											
KDM5A	5927	broad.mit.edu	37	chr12	432818	432818	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagatcagttggatggtagaGacatacaagccgctcaggat	12	8	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:432818G>A	uc001qif.1	-	15	2461	c.2098C>T	c.(2098-2100)CTC>TTC	p.L700F	KDM5A_uc001qie.1_Missense_Mutation_p.L700F|KDM5A_uc010sdn.1_Missense_Mutation_p.L659F|KDM5A_uc010sdo.1_Missense_Mutation_p.L319F	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	700					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						GGATGGTAGAGACATACAAGC	0.428			T 	NUP98	AML								A	432818	G	A	432818	3	1	55	1	0	0	0	0	1	0	0	0	8133	942	33	4	3030	4	KDM5A	12	432818	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08		432818	133419077	1054	42402											
CACNA1C	775	broad.mit.edu	37	chr12	2800302	2800302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggacgcgggctgtgtgcgCgcgcggggtcgaccgagtga	21	10	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:2800302C>T	uc009zdu.1	+	50	6916	c.6603C>T	c.(6601-6603)CGC>CGT	p.R2201R	CACNA1C_uc009zdv.1_Silent_p.R2115R|CACNA1C_uc001qkb.2_Silent_p.R2118R|CACNA1C_uc001qkc.2_Silent_p.R2137R|CACNA1C_uc001qke.2_Silent_p.R2107R|CACNA1C_uc001qkf.2_Silent_p.R2126R|CACNA1C_uc001qjz.2_Silent_p.R2118R|CACNA1C_uc001qkd.2_Silent_p.R2137R|CACNA1C_uc001qkg.2_Silent_p.R2124R|CACNA1C_uc009zdw.1_Silent_p.R2159R|CACNA1C_uc001qkh.2_Silent_p.R2126R|CACNA1C_uc001qkl.2_Silent_p.R2166R|CACNA1C_uc001qkn.2_Silent_p.R2118R|CACNA1C_uc001qko.2_Silent_p.R2138R|CACNA1C_uc001qkp.2_Silent_p.R2118R|CACNA1C_uc001qkr.2_Silent_p.R2135R|CACNA1C_uc001qku.2_Silent_p.R2153R|CACNA1C_uc001qkq.2_Silent_p.R2146R|CACNA1C_uc001qks.2_Silent_p.R2118R|CACNA1C_uc001qkt.2_Silent_p.R2137R|CACNA1C_uc001qki.1_Silent_p.R1925R|CACNA1C_uc001qkj.1_Silent_p.R1889R|CACNA1C_uc001qkk.1_Silent_p.R1854R|CACNA1C_uc001qkm.1_Silent_p.R1914R|CACNA1C_uc010sea.1_Silent_p.R809R|uc001qkx.1_5'Flank|CACNA1C_uc001qky.1_Silent_p.R436R	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	2201	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCTGTGTGCGCGCGCGGGGTC	0.652													T	2800302	C	T	2800302	2	4	55	1	0	0	0	0	0	0	0	1	2540	755	27	1		1	CACNA1C	12	2800302	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2367484	2800302	131051593	1055	42403											
NRIP2	83714	broad.mit.edu	37	chr12	2939904	2939904	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagaagagctggaatctcTgtcctgctggtcttcctcct	9	13	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:2939904T>C	uc001qlc.2	-	2	537	c.465A>G	c.(463-465)ACA>ACG	p.T155T	NRIP2_uc010sed.1_Silent_p.T155T	NM_031474	NP_113662	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	155					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CTGGAATCTCTGTCCTGCTGG	0.577													C	2939904	T	C	2939904	2	2	55	1	0	0	0	0	0	0	0	1	10653	1567	55	3		3	NRIP2	12	2939904	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	139602	2939904	130911991	1056	42404											
KCNA6	3742	broad.mit.edu	37	chr12	4919519	4919519	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactactaccagtctgggggCcgcctgcggaggccggtcaa	14	13	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:4919519C>T	uc001qng.2	+	1	1178	c.312C>T	c.(310-312)GGC>GGT	p.G104G		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	104						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						AGTCTGGGGGCCGCCTGCGGA	0.662										HNSCC(72;0.22)			T	4919519	C	T	4919519	2	4	55	1	0	0	0	0	0	0	0	1	8007	726	26	2		2	KCNA6	12	4919519	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1979615	4919519	128932376	1057	42405											
NTF3	4908	broad.mit.edu	37	chr12	5603709	5603709	+	Frame_Shift_Del	DEL	C	C	-													ggtcctgctgagcgacagcaCccccttggagcccccgccct							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:5603709delC	uc001qnl.3	+	1	412	c.329delC	c.(328-330)ACCfs	p.T110fs	NTF3_uc001qnk.3_Frame_Shift_Del_p.T123fs	NM_002527	NP_002518	P20783	NTF3_HUMAN	neurotrophin 3 isoform 2 preproprotein	110					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			pancreas(1)	1						AGCGACAGCACCCCCTTGGAG	0.612													-	5603709	C	-	5603709	7	5	55	1	0	1	0	1	0	0	0	0	10696	507	18	0	374	0	NTF3	12	5603709	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	684190	5603709	128248186	1058	42406											
VWF	7450	broad.mit.edu	37	chr12	6128559	6128559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcacctggctggcaatgCgccgcagctctgacggtcgc	12	15	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:6128559C>T	uc001qnn.1	-	28	4275	c.4025G>A	c.(4024-4026)CGC>CAC	p.R1342H	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1342	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	GCTGGCAATGCGCCGCAGCTC	0.617													T	6128559	C	T	6128559	3	4	55	1	0	0	0	0	1	0	0	0	17243	768	27	1	4516	1	VWF	12	6128559	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	524850	6128559	127723336	1059	42407											
CDCA3	83461	broad.mit.edu	37	chr12	6958314	6958314	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagttccaagaatggctcCttcctttagttcactaacat	5	12	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:6958314C>A	uc001qrg.2	-	6	828	c.700G>T	c.(700-702)GGA>TGA	p.G234*	CDCA3_uc001qre.2_Intron|uc001qrf.1_5'Flank|USP5_uc001qri.3_5'Flank|USP5_uc001qrh.3_5'Flank	NM_031299	NP_112589	Q99618	CDCA3_HUMAN	cell division cycle associated 3	234					cell division|mitosis	cytosol					0						AGAATGGCTCCTTCCTTTAGT	0.502													A	6958314	C	A	6958314	4	1	55	1	0	0	0	0	0	1	0	0	3087	690	24	5	110	5	CDCA3	12	6958314	Nonsense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	829755	6958314	126893581	1060	42408											
CLSTN3	9746	broad.mit.edu	37	chr12	7287981	7287981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccccagtgtttgtggaaCggctgtatcgtgcggctgtg	15	9	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:7287981C>T	uc001qsr.2	+	4	720	c.442C>T	c.(442-444)CGG>TGG	p.R148W	CLSTN3_uc001qss.2_Missense_Mutation_p.R160W	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	148	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						GTTTGTGGAACGGCTGTATCG	0.582													T	7287981	C	T	7287981	3	4	55	1	0	0	0	0	1	0	0	0	3563	527	19	1	456	1	CLSTN3	12	7287981	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	329667	7287981	126563914	1061	42409											
A2M	2	broad.mit.edu	37	chr12	9251308	9251308	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgactcgcaggtgggcGtgtgaggctgggagactttg	19	7	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:9251308G>A	uc001qvk.1	-	15	1859	c.1746C>T	c.(1744-1746)CAC>CAT	p.H582H	A2M_uc009zgk.1_Silent_p.H432H	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	582					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	GCAGGTGGGCGTGTGAGGCTG	0.547													A	9251308	G	A	9251308	2	1	55	1	0	0	0	0	0	0	0	1	4	1136	40	1		1	A2M	12	9251308	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1963327	9251308	124600587	1062	42410											
TAS2R31	259290	broad.mit.edu	37	chr12	11183704	11183704	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtagttcttacttctacActataaaaagctggattaaa	6	7	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:11183704A>G	uc001qzo.1	-	1	303	c.231T>C	c.(229-231)AGT>AGC	p.S77S	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176885	NP_795366	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	77	Extracellular (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity				0						TTACTTCTACACTATAAAAAG	0.408													G	11183704	A	G	11183704	2	3	55	1	0	0	0	0	0	0	0	1	15571	156	6	3		3	TAS2R31	12	11183704	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1932396	11183704	122668191	1063	42411											
PRB4	5545	broad.mit.edu	37	chr12	11461556	11461556	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccttgtgggggtggtctttCtggctttcctggaggaggtg	17	7	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:11461556C>A	uc001qzf.1	-	3	395	c.361G>T	c.(361-363)GAA>TAA	p.E121*	PRB4_uc001qzt.2_Nonsense_Mutation_p.E121*	NM_002723	NP_002714	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	184	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|8.		Missing (in allele S).			extracellular region				ovary(1)	1						GGTGGTCTTTCTGGCTTTCCT	0.607										HNSCC(22;0.051)			A	11461556	C	A	11461556	4	1	55	1	0	0	0	0	0	1	0	0	12445	922	32	5	386	5	PRB4	12	11461556	Nonsense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	277852	11461556	122390339	1064	42412											
PRB4	5545	broad.mit.edu	37	chr12	11461619	11461619	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccttgtgggggtggtctttCtggctttcctggatgaggtg	16	7	2	1	rs1063752		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:11461619C>A	uc001qzf.1	-	3	332	c.298G>T	c.(298-300)GAA>TAA	p.E100*	PRB4_uc001qzt.2_Nonsense_Mutation_p.E100*	NM_002723	NP_002714	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	121	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|5.		Missing (in allele M and allele S).			extracellular region				ovary(1)	1						GGTGGTCTTTCTGGCTTTCCT	0.617										HNSCC(22;0.051)			A	11461619	C	A	11461619	4	1	55	1	0	0	0	0	0	1	0	0	12445	922	32	5	449	5	PRB4	12	11461619	Nonsense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	63	11461619	122390276	1065	42413											
LRP6	4040	broad.mit.edu	37	chr12	12339973	12339973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccaaaatggagtgtgtgCtccagtcagtccagtacaat	10	9	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:12339973C>T	uc001rah.3	-	4	870	c.728G>A	c.(727-729)AGC>AAC	p.S243N	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.S243N	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	243	Extracellular (Potential).|Beta-propeller 1.|LDL-receptor class B 5.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12		Prostate(47;0.0865)				GGAGTGTGTGCTCCAGTCAGT	0.438													T	12339973	C	T	12339973	3	4	55	1	0	0	0	0	1	0	0	0	8962	797	28	2	4193	2	LRP6	12	12339973	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	878354	12339973	121511922	1066	42414											
GRIN2B	2904	broad.mit.edu	37	chr12	13716215	13716215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttcaggcttacgctgcgCggggccagggcggcttcttc	14	13	3	0	rs141730031		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:13716215C>T	uc001rbt.2	-	13	4136	c.3957G>A	c.(3955-3957)CCG>CCA	p.P1319P		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1319	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTACGCTGCGCGGGGCCAGGG	0.582													T	13716215	C	T	13716215	2	4	55	1	0	0	0	0	0	0	0	1	6780	755	27	1		1	GRIN2B	12	13716215	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1376242	13716215	120135680	1067	42415											
GRIN2B	2904	broad.mit.edu	37	chr12	13716527	13716527	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttggagggacagctgcgGcagaagttgcccccggaccg	16	12	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:13716527G>A	uc001rbt.2	-	13	3824	c.3645C>T	c.(3643-3645)TGC>TGT	p.C1215C		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1215	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GACAGCTGCGGCAGAAGTTGC	0.637													A	13716527	G	A	13716527	2	1	55	1	0	0	0	0	0	0	0	1	6780	1195	42	2		2	GRIN2B	12	13716527	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	312	13716527	120135368	1068	42416											
PLBD1	79887	broad.mit.edu	37	chr12	14664194	14664194	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttacgacatgaagaaagtacCtttccgtagaacatcagttt	7	8	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:14664194C>A	uc001rcc.1	-	8	1347	c.1186G>T	c.(1186-1188)GGA>TGA	p.G396*		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	396					lipid catabolic process	extracellular region	hydrolase activity				0						AAGAAAGTACCTTTCCGTAGA	0.408													A	14664194	C	A	14664194	4	1	55	1	0	0	0	0	0	1	0	0	12025	695	24	5	491	5	PLBD1	12	14664194	Nonsense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	947667	14664194	119187701	1069	42417											
PIK3C2G	5288	broad.mit.edu	37	chr12	18435062	18435062	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatcctaatgaatcacacgAaaagcagtatgaacaccaag	6	9	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:18435062A>G	uc001rdt.2	+	2	163	c.47A>G	c.(46-48)GAA>GGA	p.E16G	PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.E16G|PIK3C2G_uc010sic.1_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2 gamma	16					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21		Hepatocellular(102;0.194)				GAATCACACGAAAAGCAGTAT	0.383													G	18435062	A	G	18435062	3	3	55	1	0	0	0	0	1	0	0	0	11911	246	9	3	49	3	PIK3C2G	12	18435062	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	3770868	18435062	115416833	1070	42418											
PDE3A	5139	broad.mit.edu	37	chr12	20766472	20766472	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccttctcttccaccaaaCgtgtgcacatccttgagagc	7	15	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:20766472C>T	uc001reh.1	+	3	1129	c.1107C>T	c.(1105-1107)AAC>AAT	p.N369N		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	369				HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4).	lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TTCCACCAAACGTGTGCACAT	0.567													T	20766472	C	T	20766472	2	4	55	1	0	0	0	0	0	0	0	1	11637	535	19	1		1	PDE3A	12	20766472	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2331410	20766472	113085423	1071	42419											
OVCH1	341350	broad.mit.edu	37	chr12	29592284	29592284	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaattttcccatatatgcaTgatatatgtgttaataaaat	5	4	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:29592284T>C	uc001rix.1	-	26	3241	c.3241A>G	c.(3241-3243)ATG>GTG	p.M1081V		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	1081					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					catatatgcatgatatatgtg	0													C	29592284	T	C	29592284	3	2	55	1	0	0	0	0	1	0	0	0	11323	1464	51	3	175	3	OVCH1	12	29592284	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	8825812	29592284	104259611	1072	42420											
DDX11	1663	broad.mit.edu	37	chr12	31250882	31250882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgtgcactttgcccaagTggtgaaggaatgccgggcag	15	9	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:31250882T>C	uc001rjt.1	+	18	2077	c.1826T>C	c.(1825-1827)GTG>GCG	p.V609A	DDX11_uc001rjr.1_Missense_Mutation_p.V609A|DDX11_uc001rjs.1_Missense_Mutation_p.V609A|DDX11_uc001rju.1_Missense_Mutation_p.V287A|DDX11_uc001rjv.1_Missense_Mutation_p.V609A|DDX11_uc001rjw.1_Missense_Mutation_p.V583A|DDX11_uc009zjn.1_RNA	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	609					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTTGCCCAAGTGGTGAAGGAA	0.587										Multiple Myeloma(12;0.14)			C	31250882	T	C	31250882	3	2	55	1	0	0	0	0	1	0	0	0	4343	1696	59	3	1892	3	DDX11	12	31250882	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	1658598	31250882	102601013	1073	42421											
ALG10	84920	broad.mit.edu	37	chr12	34179403	34179404	+	Frame_Shift_Ins	INS	-	-	T													tttggaaacgtagaattctgINSttttttgtggttaccttagt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:34179403_34179404insT	uc001rlm.2	+	3	1294_1295	c.975_976insT	c.(973-978)CTGTTTfs	p.L325fs		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	asparagine-linked glycosylation 10 homolog	325_326	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			skin(1)	1	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GTAGAATTCTGTTTTTTGTGGT	0.322													T	34179404	-	T	34179403	7	5	55	1	0	1	1	0	0	0	0	0	511	1364	48	0	985	0	ALG10	12	34179403	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	2928521	34179403	99672492	1074	42422	146	2									
ALG10	84920	broad.mit.edu	37	chr12	34179404	34179405	+	Frame_Shift_Ins	INS	-	-	T													ttggaaacgtagaattctgtINStttttgtggttaccttagtc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:34179403_34179404G>GT	uc001rlm.3	+	2	1294_1295	c.975_976G>GT	c.(973-978)ctgtttfs	p.L325fs		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) (ALG10), mRNA.	325					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GTAGAATTCTGTTTTTTGTGGT	0.322													T	34179405	-	T	34179404	7	5	55	1	0	1	1	0	0	0	0	0	511	1725	60	0	986	0	ALG10	12	34179404	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	1	34179404	99672491	1075	42423	146	2									
CPNE8	144402	broad.mit.edu	37	chr12	39087578	39087578	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccactgcttttagtgccaTaccataggcattcagttggt	8	11	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:39087578T>C	uc001rls.1	-	15	1108	c.1024A>G	c.(1024-1026)ATG>GTG	p.M342V	CPNE8_uc001rlr.1_Missense_Mutation_p.M1V	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	copine VIII	342	VWFA.									pancreas(1)	1	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TTTAGTGCCATACCATAGGCA	0.423													C	39087578	T	C	39087578	3	2	55	1	0	0	0	0	1	0	0	0	3818	1406	49	3	694	3	CPNE8	12	39087578	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	4908174	39087578	94764317	1076	42424											
KIF21A	55605	broad.mit.edu	37	chr12	39695397	39695397	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttccagactttcaaaatgcCccctctgcagccactgagca	7	15	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:39695397C>A	uc001rly.2	-	37	4962	c.4816G>T	c.(4816-4818)GGC>TGC	p.G1606C	KIF21A_uc001rlv.2_Missense_Mutation_p.G551C|KIF21A_uc001rlw.2_Missense_Mutation_p.G876C|KIF21A_uc001rlx.2_Missense_Mutation_p.G1593C|KIF21A_uc001rlz.2_Missense_Mutation_p.G1553C|KIF21A_uc010skl.1_Missense_Mutation_p.G1569C|KIF21A_uc001rlt.2_Missense_Mutation_p.G226C|KIF21A_uc001rlu.2_Missense_Mutation_p.G226C	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1606	WD 6.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				TTCAAAATGCCCCCTCTGCAG	0.458													A	39695397	C	A	39695397	3	1	55	1	0	0	0	0	1	0	0	0	8288	623	22	5	216	5	KIF21A	12	39695397	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	607819	39695397	94156498	1077	42425											
PUS7L	83448	broad.mit.edu	37	chr12	44130313	44130313	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaattttgctggtatatgcGtgaacatagaatatgcgcat	9	6	0	2	rs149201016		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:44130313G>A	uc001rnq.3	-	7	2085	c.1596C>T	c.(1594-1596)CAC>CAT	p.H532H	PUS7L_uc001rnr.3_Silent_p.H532H|PUS7L_uc001rns.3_Silent_p.H532H|PUS7L_uc009zkb.2_Silent_p.H219H	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S.	532	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			pancreas(1)	1	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TGGTATATGCGTGAACATAGA	0.458													A	44130313	G	A	44130313	2	1	55	1	0	0	0	0	0	0	0	1	12834	1136	40	1		1	PUS7L	12	44130313	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	4434916	44130313	89721582	1078	42426											
SFRS2IP	9169	broad.mit.edu	37	chr12	46327972	46327972	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactaaccaataagctctatAggtaaaggaagattctccag	7	8	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:46327972A>G	uc001rox.2	-	8	906	c.619T>C	c.(619-621)TAT>CAT	p.Y207H	SFRS2IP_uc001roy.1_Missense_Mutation_p.Y281H	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	207					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		TAAGCTCTATAGGTAAAGGAA	0.318													G	46327972	A	G	46327972	3	3	55	1	0	0	0	0	1	0	0	0	14177	420	15	3	3804	3	SFRS2IP	12	46327972	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	2197659	46327972	87523923	1079	42427											
FAM113B	91523	broad.mit.edu	37	chr12	47629390	47629390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttcttccgcccaagctcCggcggcagaaggccaccttc	10	16	1	1	rs148925320		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:47629390C>T	uc001rpn.2	+	4	1275	c.544C>T	c.(544-546)CGG>TGG	p.R182W	FAM113B_uc010slj.1_Missense_Mutation_p.R62W|FAM113B_uc001rpq.2_Missense_Mutation_p.R182W	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	182							hydrolase activity			skin(3)|ovary(2)	5	Renal(347;0.138)|Lung SC(27;0.192)					GCCCAAGCTCCGGCGGCAGAA	0.597													T	47629390	C	T	47629390	3	4	55	1	0	0	0	0	1	0	0	0	5402	643	23	1	546	1	FAM113B	12	47629390	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1301418	47629390	86222505	1080	42428											
CCNT1	904	broad.mit.edu	37	chr12	49086878	49086881	+	Frame_Shift_Del	DEL	TGTC	TGTC	-													cagaggtggtggccggggttTgtctgtattgccagatctcg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:49086877_49086880TTGTC>T	uc001rsd.4	-	8	2440_2443	c.2117_2120GACAA>A	c.(2116-2121)gacaaafs	p.D706fs	CCNT1_uc009zkz.2_Frame_Shift_Del_p.D421fs|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	706					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						TGGCCGGGGTTTGTCTGTATTGCC	0.456													-	49086881	TGTC	-	49086878	7	5	55	1	0	1	0	1	0	0	0	0	2934	1821	63	0	65	0	CCNT1	12	49086878	Frame_Shift_Del	DEL	TGTC	TCGA-BR-7851-01A-11D-2201-08	1457488	49086878	84765017	1081	42429											
CCDC65	85478	broad.mit.edu	37	chr12	49298120	49298120	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatccaatcccctgcccccAtgcctaagaaagaaaaaatg	7	13	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:49298120A>G	uc001rso.2	+	1	228	c.1A>G	c.(1-3)ATG>GTG	p.M1V		NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	1										ovary(1)|skin(1)	2						CCCTGCCCCCATGCCTAAGAA	0.532											OREG0021772	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	49298120	A	G	49298120	3	3	55	1	0	0	0	0	1	0	0	0	2837	217	8	3	3	3	CCDC65	12	49298120	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	211242	49298120	84553775	1082	42430											
NCKAP5L	57701	broad.mit.edu	37	chr12	50188791	50188791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccatcttgacttccctcCggagcggggagcccccgcca	10	18	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:50188791C>T	uc009zlk.2	-	8	3054	c.2852G>A	c.(2851-2853)CGG>CAG	p.R951Q	NCKAP5L_uc001rvc.3_Missense_Mutation_p.R155Q|NCKAP5L_uc001rvb.2_Missense_Mutation_p.R544Q	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	947										central_nervous_system(1)	1						GACTTCCCTCCGGAGCGGGGA	0.647													T	50188791	C	T	50188791	3	4	55	1	0	0	0	0	1	0	0	0	10224	652	23	1	1176	1	NCKAP5L	12	50188791	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	890671	50188791	83663104	1083	42431											
AQP2	359	broad.mit.edu	37	chr12	50344854	50344854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcctggtgggctgccacGtctccgttctccgagccgcc	12	18	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:50344854G>A	uc001rvn.2	+	1	331	c.241G>A	c.(241-243)GTC>ATC	p.V81I		NM_000486	NP_000477	P41181	AQP2_HUMAN	aquaporin 2	81	Cytoplasmic (Potential).				cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			ovary(2)	2						GGGCTGCCACGTCTCCGTTCT	0.662													A	50344854	G	A	50344854	3	1	55	1	0	0	0	0	1	0	0	0	826	1145	40	1	243	1	AQP2	12	50344854	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	156063	50344854	83507041	1084	42432											
CSRNP2	81566	broad.mit.edu	37	chr12	51457853	51457853	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaggctgagccttcttcCgtaccaggctctcctttcac	8	14	3	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:51457853C>T	uc001rxu.1	-	5	1606	c.1308G>A	c.(1306-1308)ACG>ACA	p.T436T		NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	TGF-beta induced apoptosis protein 12	436					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						AGCCTTCTTCCGTACCAGGCT	0.547													T	51457853	C	T	51457853	2	4	55	1	0	0	0	0	0	0	0	1	3964	639	23	1		1	CSRNP2	12	51457853	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1112999	51457853	82394042	1085	42433											
DAZAP2	9802	broad.mit.edu	37	chr12	51634661	51634661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgcctcttctagctctatCgtccgagctttgtgcaccca	7	15	4	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:51634661C>T	uc010snd.1	+	3	323	c.139C>T	c.(139-141)CGT>TGT	p.R47C	DAZAP2_uc001ryb.2_Missense_Mutation_p.R47C|DAZAP2_uc010snc.1_Intron|DAZAP2_uc010sne.1_Intron|DAZAP2_uc010snf.1_Missense_Mutation_p.R47C	NM_001136266	NP_001129738	Q15038	DAZP2_HUMAN	DAZ associated protein 2 isoform c	47	Pro-rich.			R -> S (in Ref. 1; AAR11454).			WW domain binding				0						CTAGCTCTATCGTCCGAGCTT	0.483													T	51634661	C	T	51634661	3	4	55	1	0	0	0	0	1	0	0	0	4245	884	31	1	149	1	DAZAP2	12	51634661	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	176808	51634661	82217234	1086	42434											
ANKRD33	341405	broad.mit.edu	37	chr12	52284398	52284398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagcagtggaccctgttcGgggcaagacggccctggaat	15	11	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:52284398G>A	uc001rzf.3	+	5	872	c.293G>A	c.(292-294)CGG>CAG	p.R98Q	ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzd.2_Missense_Mutation_p.R223Q|ANKRD33_uc001rze.2_Missense_Mutation_p.R119Q|ANKRD33_uc001rzg.3_Missense_Mutation_p.R25Q|ANKRD33_uc001rzi.3_Missense_Mutation_p.R98Q	NM_001130015	NP_001123487	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33 isoform 1	98	ANK 3.										0				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GACCCTGTTCGGGGCAAGACG	0.617													A	52284398	G	A	52284398	3	1	55	1	0	0	0	0	1	0	0	0	661	1116	39	1	716	1	ANKRD33	12	52284398	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	649737	52284398	81567497	1087	42435											
C12orf44	60673	broad.mit.edu	37	chr12	52467515	52467515	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctggctgtgctgcacacGgtgcttctgcaccgcagcac	12	14	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:52467515G>A	uc001rzu.3	+	3	556	c.81G>A	c.(79-81)ACG>ACA	p.T27T	C12orf44_uc009zmd.2_Silent_p.T27T	NM_021934	NP_068753	Q9BSB4	ATGA1_HUMAN	Atg13-interacting protein	27					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0978)		TGCTGCACACGGTGCTTCTGC	0.612													A	52467515	G	A	52467515	2	1	55	1	0	0	0	0	0	0	0	1	1690	1103	39	1		1	C12orf44	12	52467515	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	183117	52467515	81384380	1088	42436											
KRT3	3850	broad.mit.edu	37	chr12	53189822	53189822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcttgctggcttgtctgCtcatggtaaggagcttggcg	14	8	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:53189822C>T	uc001say.2	-	1	71	c.5G>A	c.(4-6)AGC>AAC	p.S2N		NM_057088	NP_476429	P12035	K2C3_HUMAN	keratin 3	2	Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity				0						GGCTTGTCTGCTCATGGTAAG	0.547													T	53189822	C	T	53189822	3	4	55	1	0	0	0	0	1	0	0	0	8466	797	28	2	1917	2	KRT3	12	53189822	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	722307	53189822	80662073	1089	42437											
EIF4B	1975	broad.mit.edu	37	chr12	53412624	53412624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatgacgatgtgtatagggCgcctccaattgaccgttcca	11	11	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:53412624C>T	uc001sbh.3	+	3	400	c.194C>T	c.(193-195)GCG>GTG	p.A65V	EIF4B_uc009zmp.1_RNA|EIF4B_uc010snu.1_Missense_Mutation_p.A65V|EIF4B_uc010snv.1_Missense_Mutation_p.A65V|EIF4B_uc001sbi.2_5'UTR	NM_001417	NP_001408	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	65					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(1)|kidney(1)	2						GTGTATAGGGCGCCTCCAATT	0.502													T	53412624	C	T	53412624	3	4	55	1	0	0	0	0	1	0	0	0	5027	768	27	1	204	1	EIF4B	12	53412624	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	222802	53412624	80439271	1090	42438											
CSAD	51380	broad.mit.edu	37	chr12	53564239	53564239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaccactcggacactgtcGgtgccaagtcccagaaacgc	10	14	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:53564239G>A	uc001sby.2	-	8	741	c.615C>T	c.(613-615)ACC>ACT	p.T205T	CSAD_uc001sbw.2_Silent_p.T58T|CSAD_uc009zmt.2_5'UTR|CSAD_uc010snx.1_Silent_p.T232T|CSAD_uc001sbz.2_Silent_p.T205T|CSAD_uc009zmu.2_Silent_p.T58T|CSAD_uc001sca.3_RNA	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	205					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GGACACTGTCGGTGCCAAGTC	0.572									Hereditary_Prostate_Cancer				A	53564239	G	A	53564239	2	1	55	1	0	0	0	0	0	0	0	1	3925	1103	39	1		1	CSAD	12	53564239	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	151615	53564239	80287656	1091	42439											
SP1	6667	broad.mit.edu	37	chr12	53776653	53776653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggactaccatcagttctGccagcttggtatcatcacaa	8	12	4	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:53776653G>A	uc001scw.2	+	3	1019	c.922G>A	c.(922-924)GCC>ACC	p.A308T	SP1_uc010sog.1_Missense_Mutation_p.A301T	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	308	Transactivation domain B (Gln-rich).|Ser/Thr-rich.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CATCAGTTCTGCCAGCTTGGT	0.512													A	53776653	G	A	53776653	3	1	55	1	0	0	0	0	1	0	0	0	14959	1319	46	2	932	2	SP1	12	53776653	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	212414	53776653	80075242	1092	42440											
MAP3K12	7786	broad.mit.edu	37	chr12	53879249	53879249	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcaccacatcgtcgtaggTgattagcatgctggtaaaga	10	9	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:53879249T>C	uc001sdm.1	-	6	831	c.733A>G	c.(733-735)ACC>GCC	p.T245A	MAP3K12_uc001sdn.1_Missense_Mutation_p.T278A	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	245	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						TCGTCGTAGGTGATTAGCATG	0.493													C	53879249	T	C	53879249	3	2	55	1	0	0	0	0	1	0	0	0	9246	1696	59	3	1886	3	MAP3K12	12	53879249	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	102596	53879249	79972646	1093	42441											
MAP3K12	7786	broad.mit.edu	37	chr12	53880257	53880257	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggggtgcttcagctttcGcaagtgcttgatgtcggttt	14	7	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:53880257G>A	uc001sdm.1	-	4	594	c.496C>T	c.(496-498)CGA>TGA	p.R166*	MAP3K12_uc001sdn.1_Nonsense_Mutation_p.R199*	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	166	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						TTCAGCTTTCGCAAGTGCTTG	0.592													A	53880257	G	A	53880257	4	1	55	1	0	0	0	0	0	1	0	0	9246	1095	38	1	2131	1	MAP3K12	12	53880257	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1008	53880257	79971638	1094	42442											
PDE1B	5153	broad.mit.edu	37	chr12	54966477	54966477	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaccagatccacgcagcCgatgttacccagacagtcca	7	16	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:54966477C>T	uc001sgd.1	+	7	853	c.687C>T	c.(685-687)GCC>GCT	p.A229A	PDE1B_uc010soz.1_Silent_p.A92A|PDE1B_uc010spa.1_Silent_p.A188A|PDE1B_uc001sgf.2_Silent_p.A92A|PDE1B_uc001sge.2_Silent_p.A209A|PDE1B_uc009znq.2_Silent_p.A25A	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	phosphodiesterase 1B isoform 1	229	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						TCCACGCAGCCGATGTTACCC	0.517													T	54966477	C	T	54966477	2	4	55	1	0	0	0	0	0	0	0	1	11634	639	23	1		1	PDE1B	12	54966477	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1086220	54966477	78885418	1095	42443											
KIAA0748	9840	broad.mit.edu	37	chr12	55360195	55360195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagagtttgccattggcGgccagtagtgtggctggaca	16	7	0	2	rs149630377	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:55360195G>A	uc001sgn.3	-	6	434	c.324C>T	c.(322-324)GCC>GCT	p.A108A	KIAA0748_uc001sgl.3_5'UTR|KIAA0748_uc001sgm.3_5'UTR|KIAA0748_uc010spb.1_5'UTR|KIAA0748_uc010spc.1_5'UTR|KIAA0748_uc010spd.1_Silent_p.A108A|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	108										ovary(1)|central_nervous_system(1)	2						TGCCATTGGCGGCCAGTAGTG	0.323													A	55360195	G	A	55360195	2	1	55	1	0	0	0	0	0	0	0	1	8190	1103	39	1		1	KIAA0748	12	55360195	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	393718	55360195	78491700	1096	42444											
OR6C1	390321	broad.mit.edu	37	chr12	55714989	55714989	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggattttcttgtgctgcGtttactctaatgttcacttt	8	7	3	0	rs144216844	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:55714989G>A	uc010spi.1	+	1	606	c.606G>A	c.(604-606)GCG>GCA	p.A202A		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	202	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2						CTTGTGCTGCGTTTACTCTAA	0.353													A	55714989	G	A	55714989	2	1	55	1	0	0	0	0	0	0	0	1	11190	1132	40	1		1	OR6C1	12	55714989	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	354794	55714989	78136906	1097	42445											
ITGA7	3679	broad.mit.edu	37	chr12	56091513	56091513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtcagccagggagcccaCcagcaggtcagggtattggt	16	10	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:56091513C>T	uc001shh.2	-	9	1607	c.1387G>A	c.(1387-1389)GTG>ATG	p.V463M	ITGA7_uc001shg.2_Missense_Mutation_p.V459M|ITGA7_uc010sps.1_Missense_Mutation_p.V366M|ITGA7_uc009znw.2_5'Flank|ITGA7_uc009znx.2_Missense_Mutation_p.V346M	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	503	FG-GAP 7.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						AGGGAGCCCACCAGCAGGTCA	0.617													T	56091513	C	T	56091513	3	4	55	1	0	0	0	0	1	0	0	0	7881	507	18	4	2106	4	ITGA7	12	56091513	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	376524	56091513	77760382	1098	42446											
DNAJC14	85406	broad.mit.edu	37	chr12	56215796	56215796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcactttcttccgccGcttaggtttggcttctccct	6	17	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:56215796G>A	uc001shx.1	-	7	2278	c.2074C>T	c.(2074-2076)CGG>TGG	p.R692W	DNAJC14_uc001shu.1_Missense_Mutation_p.R692W|DNAJC14_uc009zob.1_Missense_Mutation_p.R692W	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	692					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						TTCTTCCGCCGCTTAGGTTTG	0.552													A	56215796	G	A	56215796	3	1	55	1	0	0	0	0	1	0	0	0	4633	1086	38	1	38	1	DNAJC14	12	56215796	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	124283	56215796	77636099	1099	42447											
STAT2	6773	broad.mit.edu	37	chr12	56742817	56742818	+	Frame_Shift_Ins	INS	-	-	G													gcaagctccagggggccttgINSggggggttggagaagaactg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:56742816_56742817T>TG	uc001slc.3	-	16	1670_1671	c.1467_1468A>CA	c.(1465-1470)cccaagfs	p.P489fs	STAT2_uc001slb.3_Frame_Shift_Ins_p.P31fs|STAT2_uc001sld.3_Frame_Shift_Ins_p.P485fs|STAT2_uc010sqn.2_3'UTR	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	489					JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594													G	56742818	-	G	56742817	7	5	55	1	0	1	1	0	0	0	0	0	15264	1335	47	0	1120	0	STAT2	12	56742817	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	527021	56742817	77109078	1100	42448											
APOF	319	broad.mit.edu	37	chr12	56755798	56755798	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgggtgcagaaattggcaGgacaaggggtctgaggaggg	19	4	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:56755798G>T	uc001sle.1	-	2	246	c.192C>A	c.(190-192)TCC>TCA	p.S64S		NM_001638	NP_001629	Q13790	APOF_HUMAN	apolipoprotein F precursor	64					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding				0						GAAATTGGCAGGACAAGGGGT	0.527													T	56755798	G	T	56755798	2	4	55	1	0	0	0	0	0	0	0	1	803	987	35	5		5	APOF	12	56755798	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	12981	56755798	77096097	1101	42449											
LRP1	4035	broad.mit.edu	37	chr12	57567081	57567081	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcgatgagaagagctgtgaGggagtgacccacgtctgcga	16	8	1	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:57567081G>T	uc001snd.2	+	21	3760	c.3294G>T	c.(3292-3294)GAG>GAT	p.E1098D		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1098	Extracellular (Potential).|LDL-receptor class A 8.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGAGCTGTGAGGGAGTGACCC	0.592											OREG0021936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	57567081	G	T	57567081	3	4	55	1	0	0	0	0	1	0	0	0	8951	991	35	5	3376	5	LRP1	12	57567081	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	811283	57567081	76284814	1102	42450											
LRP1	4035	broad.mit.edu	37	chr12	57572242	57572243	+	Frame_Shift_Ins	INS	-	-	G													gtttgcagtgacgctgtacgINSggggggaggtctactggact					rs139915490		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:57572241_57572242C>CG	uc001snd.3	+	26	4927_4928	c.4461_4462C>CG	c.(4459-4464)tacgggfs	p.Y1487fs		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1487					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGGT	0.589													G	57572243	-	G	57572242	7	5	55	1	0	1	1	0	0	0	0	0	8951	1116	39	0	4568	0	LRP1	12	57572242	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	5161	57572242	76279653	1103	42451											
GLI1	2735	broad.mit.edu	37	chr12	57860075	57860075	+	Frame_Shift_Del	DEL	G	G	-													gaaggagttcgtgtgccactGggggggctgctccagggagc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:57860074_57860074TG>T	uc001snx.3	+	7	908	c.814_814TG>T	c.(814-816)tggfs	p.W272fs	GLI1_uc021qzi.1_Frame_Shift_Del_p.W231fs|GLI1_uc009zpq.3_Frame_Shift_Del_p.W144fs	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTG	0.597													-	57860075	G	-	57860075	7	5	55	1	0	1	0	1	0	0	0	0	6437	1357	47	0	841	0	GLI1	12	57860075	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	287833	57860075	75991820	1104	42452											
KIF5A	3798	broad.mit.edu	37	chr12	57962772	57962772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagactggagcagagggagcCgtgctggacgaggcaaagaa	17	7	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:57962772C>T	uc001sor.1	+	9	949	c.741C>T	c.(739-741)GCC>GCT	p.A247A	KIF5A_uc010srr.1_Silent_p.A158A	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	247	Kinesin-motor.|Microtubule-binding.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3						CAGAGGGAGCCGTGCTGGACG	0.562													T	57962772	C	T	57962772	2	4	55	1	0	0	0	0	0	0	0	1	8305	639	23	1		1	KIF5A	12	57962772	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	102697	57962772	75889123	1105	42453											
GEFT	115557	broad.mit.edu	37	chr12	58008142	58008142	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcaagagctacaacggtgtCtgaaagatcctgattggctg	12	8	1	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:58008142C>T	uc001spb.2	+	7	1145	c.685C>T	c.(685-687)CTG>TTG	p.L229L	GEFT_uc009zpy.2_Silent_p.L268L|GEFT_uc001soz.1_Silent_p.L103L|GEFT_uc001spa.2_Silent_p.L123L|uc001spc.2_Intron|GEFT_uc001spd.2_5'UTR	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	RhoA/RAC/CDC42 exchange factor isoform 1	229	DH.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity				0	Melanoma(17;0.122)					ACAACGGTGTCTGAAAGATCC	0.552													T	58008142	C	T	58008142	2	4	55	1	0	0	0	0	0	0	0	1	6328	912	32	4		4	GEFT	12	58008142	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	45370	58008142	75843753	1106	42454											
METTL1	4234	broad.mit.edu	37	chr12	58163384	58163384	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taggcatattctgctagcagGgtgggactgatgattcgcca	13	8	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:58163384G>T	uc010ssd.1	-	4	585	c.537C>A	c.(535-537)ACC>ACA	p.T179T	CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.2_Missense_Mutation_p.P118T|FAM119B_uc001sqf.2_5'Flank|FAM119B_uc001sqg.2_5'Flank|FAM119B_uc009zqd.2_5'Flank	NM_005371	NP_005362	Q9UBP6	TRMB_HUMAN	methyltransferase-like protein 1 isoform a	179						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding				0	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			CTGCTAGCAGGGTGGGACTGA	0.527													T	58163384	G	T	58163384	2	4	55	1	0	0	0	0	0	0	0	1	9493	1232	43	5		5	METTL1	12	58163384	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	155242	58163384	75688511	1107	42455											
AVIL	10677	broad.mit.edu	37	chr12	58201166	58201166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgaagtggcgtggctccGttcccatcctgactcgaacc	10	15	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:58201166G>A	uc001sqj.1	-	12	1468	c.1439C>T	c.(1438-1440)ACG>ATG	p.T480M	AVIL_uc009zqe.1_Missense_Mutation_p.T473M|AVIL_uc001sqk.1_Missense_Mutation_p.T58M|AVIL_uc001sql.3_Missense_Mutation_p.T457M	NM_006576	NP_006567	O75366	AVIL_HUMAN	advillin	480	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			central_nervous_system(1)	1	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GCGTGGCTCCGTTCCCATCCT	0.537													A	58201166	G	A	58201166	3	1	55	1	0	0	0	0	1	0	0	0	1227	1145	40	1	1052	1	AVIL	12	58201166	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	37782	58201166	75650729	1108	42456											
SLC16A7	9194	broad.mit.edu	37	chr12	60168466	60168466	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagccttcaacctgcaaccCgccttaaccataattggcaa	5	14	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:60168466C>T	uc001sqs.2	+	5	689	c.390C>T	c.(388-390)CCC>CCT	p.P130P	SLC16A7_uc001sqt.2_Silent_p.P130P|SLC16A7_uc001squ.2_Silent_p.P130P|SLC16A7_uc009zqi.2_Silent_p.P31P|SLC16A7_uc010ssi.1_Silent_p.P31P	NM_004731	NP_004722	O60669	MOT2_HUMAN	solute carrier family 16, member 7	130	Helical; (Potential).					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			ovary(1)	1				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	ACCTGCAACCCGCCTTAACCA	0.413													T	60168466	C	T	60168466	2	4	55	1	0	0	0	0	0	0	0	1	14413	639	23	1		1	SLC16A7	12	60168466	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1967300	60168466	73683429	1109	42457											
DPY19L2	283417	broad.mit.edu	37	chr12	64055263	64055264	+	Splice_Site	INS	-	-	T													gtatgaataataaagtccctINSttttttaaaaaaagacatat					rs565018		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:64055262_64055263C>CT	uc001srp.1	-	4	632	c.451_splice	c.e4-1	p.G151_splice	DPY19L2_uc009zqk.1_Splice_Site	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	151					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AATAAAGTCCCTTTTTTTAAAA	0.257													T	64055264	-	T	64055263	8	5	55	1	0	1	1	0	0	0	1	0	4741	1623	56	0	1903	0	DPY19L2	12	64055263	Splice_Site	INS	-	TCGA-BR-7851-01A-11D-2201-08	3886797	64055263	69796632	1110	42458											
LEMD3	23592	broad.mit.edu	37	chr12	65564319	65564319	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcagttcagggagggggaGgactcgcgatgaatgacagg	17	7	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:65564319G>T	uc001ssl.1	+	1	949	c.943G>T	c.(943-945)GGA>TGA	p.G315*	LEMD3_uc009zqo.1_Nonsense_Mutation_p.G315*	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	315	Poly-Gly.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			central_nervous_system(3)|ovary(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GGGAGGGGGAGGACTCGCGAT	0.657													T	65564319	G	T	65564319	4	4	55	1	0	0	0	0	0	1	0	0	8721	1001	35	5	945	5	LEMD3	12	65564319	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1509056	65564319	68287576	1111	42459											
IRAK3	11213	broad.mit.edu	37	chr12	66638373	66638373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaccataaatatgaccaGcagcagcagtaaacatctgt	7	9	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:66638373G>A	uc001sth.2	+	9	1097	c.995G>A	c.(994-996)AGC>AAC	p.S332N	IRAK3_uc010ssy.1_Missense_Mutation_p.S271N	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	332	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8				GBM - Glioblastoma multiforme(28;0.0203)		AATATGACCAGCAGCAGCAGT	0.428													A	66638373	G	A	66638373	3	1	55	1	0	0	0	0	1	0	0	0	7824	971	34	2	1029	2	IRAK3	12	66638373	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1074054	66638373	67213522	1112	42460											
HELB	92797	broad.mit.edu	37	chr12	66704320	66704320	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctatagaagttttgctcacaGcacctacagggaaagcagct	9	10	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:66704320G>T	uc001sti.2	+	4	1640	c.1612G>T	c.(1612-1614)GCA>TCA	p.A538S	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	538					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TTTGCTCACAGCACCTACAGG	0.413													T	66704320	G	T	66704320	3	4	55	1	0	0	0	0	1	0	0	0	7045	971	34	5	1626	5	HELB	12	66704320	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	65947	66704320	67147575	1113	42461											
GRIP1	23426	broad.mit.edu	37	chr12	66742824	66742824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtattagtgggttctcgtGtctccaaattaccaccgtgg	10	9	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:66742824G>A	uc001stk.2	-	24	3447	c.3206C>T	c.(3205-3207)ACA>ATA	p.T1069I	GRIP1_uc001stj.2_Missense_Mutation_p.T836I	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	1121					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GGGTTCTCGTGTCTCCAAATT	0.408													A	66742824	G	A	66742824	3	1	55	1	0	0	0	0	1	0	0	0	6787	1377	48	4	28	4	GRIP1	12	66742824	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	38504	66742824	67109071	1114	42462											
DYRK2	8445	broad.mit.edu	37	chr12	68051937	68051937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattttagcagagctcctgaCgggttaccccctcttgcctg	9	14	1	2	rs140246773		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:68051937C>T	uc001str.3	+	3	1652	c.1250C>T	c.(1249-1251)ACG>ATG	p.T417M	DYRK2_uc001sts.3_Missense_Mutation_p.T344M	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	417	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(1)|central_nervous_system(1)	4			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		GAGCTCCTGACGGGTTACCCC	0.552													T	68051937	C	T	68051937	3	4	55	1	0	0	0	0	1	0	0	0	4856	536	19	1	1260	1	DYRK2	12	68051937	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1309113	68051937	65799958	1115	42463											
TPH2	121278	broad.mit.edu	37	chr12	72372756	72372756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctggcttcacggtgaggcCggtggctggatacctgagcc	16	11	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:72372756C>T	uc009zrw.1	+	7	971	c.830C>T	c.(829-831)CCG>CTG	p.P277L	TPH2_uc001swy.2_Missense_Mutation_p.P187L	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	277					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			ovary(2)|central_nervous_system(1)|skin(1)	4					L-Tryptophan(DB00150)	ACGGTGAGGCCGGTGGCTGGA	0.522													T	72372756	C	T	72372756	3	4	55	1	0	0	0	0	1	0	0	0	16399	652	23	1	856	1	TPH2	12	72372756	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	4320819	72372756	61479139	1116	42464											
E2F7	144455	broad.mit.edu	37	chr12	77444495	77444495	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctttgcttttcaaattcGtccacagcactgtccccaac	6	15	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:77444495G>A	uc001sym.3	-	4	635	c.399C>T	c.(397-399)GAC>GAT	p.D133D	E2F7_uc001syn.2_Silent_p.D133D	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	133					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						TTTCAAATTCGTCCACAGCAC	0.463													A	77444495	G	A	77444495	2	1	55	1	0	0	0	0	0	0	0	1	4872	1136	40	1		1	E2F7	12	77444495	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5071739	77444495	56407400	1117	42465											
ACSS3	79611	broad.mit.edu	37	chr12	81503375	81503375	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaacatttgttacaatgcCgttgatcgtcatattgaaaa	6	7	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:81503375C>T	uc001szl.1	+	2	439	c.348C>T	c.(346-348)GCC>GCT	p.A116A	ACSS3_uc001szm.1_Silent_p.A115A	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	116						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						GTTACAATGCCGTTGATCGTC	0.328													T	81503375	C	T	81503375	2	4	55	1	0	0	0	0	0	0	0	1	190	639	23	1		1	ACSS3	12	81503375	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	4058880	81503375	52348520	1118	42466											
C12orf26	84190	broad.mit.edu	37	chr12	82752576	82752576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgccctcagagacgcgcCccctagtggaagcagagtgg	13	15	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:82752576C>T	uc001szq.2	+	1	253	c.232C>T	c.(232-234)CCC>TCC	p.P78S	CCDC59_uc001szp.3_5'Flank	NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	hypothetical protein LOC84190	78											0						AGAGACGCGCCCCCTAGTGGA	0.687											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	82752576	C	T	82752576	3	4	55	1	0	0	0	0	1	0	0	0	1679	623	22	4	234	4	C12orf26	12	82752576	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1249201	82752576	51099319	1119	42467											
LRRIQ1	84125	broad.mit.edu	37	chr12	85450750	85450750	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacctgatagcatgaccTgctgtgtatcagagtcaacc	9	11	2	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:85450750T>A	uc001tac.2	+	8	2290	c.2179T>A	c.(2179-2181)TGC>AGC	p.C727S	LRRIQ1_uc001tab.1_Missense_Mutation_p.C727S|LRRIQ1_uc001taa.1_Missense_Mutation_p.C702S	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	727										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		TAGCATGACCTGCTGTGTATC	0.353													A	85450750	T	A	85450750	3	1	55	1	0	0	0	0	1	0	0	0	9029	1580	55	5	2205	5	LRRIQ1	12	85450750	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	2698174	85450750	48401145	1120	42468											
ALX1	8092	broad.mit.edu	37	chr12	85695137	85695137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgactctcttcttactgggGcaaccaatggacatgcattt	8	11	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:85695137G>A	uc001tae.3	+	4	869	c.865G>A	c.(865-867)GCA>ACA	p.A289T		NM_006982	NP_008913	Q15699	ALX1_HUMAN	cartilage paired-class homeoprotein 1	289					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(134;0.134)		TCTTACTGGGGCAACCAATGG	0.478													A	85695137	G	A	85695137	3	1	55	1	0	0	0	0	1	0	0	0	556	1203	42	2	879	2	ALX1	12	85695137	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	244387	85695137	48156758	1121	42469											
KITLG	4254	broad.mit.edu	37	chr12	88910256	88910256	+	Frame_Shift_Del	DEL	T	T	-													ggttctgggctcttgaatgaTttttttagatcctagaagaa							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:88910256delT	uc001tav.2	-	5	558	c.375delA	c.(373-375)AAAfs	p.K125fs	KITLG_uc009zsn.2_Intron|KITLG_uc001taw.2_Frame_Shift_Del_p.K125fs|KITLG_uc009zso.1_Intron	NM_000899	NP_000890	P21583	SCF_HUMAN	KIT ligand isoform b precursor	125	Extracellular (Potential).				cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			ovary(1)	1						TCTTGAATGATTTTTTTAGAT	0.338									Testicular_Cancer_Familial_Clustering_of				-	88910256	T	-	88910256	7	5	55	1	0	1	0	1	0	0	0	0	8330	1490	52	0	466	0	KITLG	12	88910256	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	3215119	88910256	44941639	1122	42470											
NDUFA12	55967	broad.mit.edu	37	chr12	95396516	95396516	+	Splice_Site	DEL	A	A	-													taaaaaatactgcactcaccAaaaaattgcttgttgtcttc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:95396515_95396515CA>C	uc001tdl.3	-	2	224	c.169_splice	c.e2+1	p.G57_splice		NM_018838	NP_061326	Q9UI09	NDUAC_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 (NDUFA12), nuclear gene encoding mitochondrial protein, mRNA.	57					respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|electron carrier activity			endometrium(1)|large_intestine(2)|lung(3)	6					NADH(DB00157)	CTGCACTCACCAAAAAATTGC	0.348													-	95396516	A	-	95396516	8	5	55	1	0	1	0	1	0	0	1	0	10262	144	5	0	281	0	NDUFA12	12	95396516	Splice_Site	DEL	A	TCGA-BR-7851-01A-11D-2201-08	6486260	95396516	38455379	1123	42471											
USP44	84101	broad.mit.edu	37	chr12	95927797	95927798	+	Frame_Shift_Ins	INS	-	-	A													ataatcatcacaaaggtaacINSaaaaaacgtacatctcattc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:95927797_95927798insA	uc001teg.2	-	2	379_380	c.235_236insT	c.(235-237)TGTfs	p.C79fs	USP44_uc001teh.2_Frame_Shift_Ins_p.C79fs|USP44_uc009zte.2_Frame_Shift_Ins_p.C76fs	NM_001042403	NP_001035862	Q9H0E7	UBP44_HUMAN	ubiquitin thiolesterase 44	79	UBP-type.				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)|breast(1)|central_nervous_system(1)	3						ACAAAGGTAACAAAAAACGTAC	0.391											OREG0022039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	95927798	-	A	95927797	7	5	55	1	0	1	1	0	0	0	0	0	17072	478	17	0	1922	0	USP44	12	95927797	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	531281	95927797	37924098	1124	42472	147	2									
USP44	84101	broad.mit.edu	37	chr12	95927798	95927799	+	Frame_Shift_Ins	INS	-	-	A													taatcatcacaaaggtaacaINSaaaaacgtacatctcattca							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:95927797_95927798C>CA	uc001teg.3	-	1	379_380	c.235_236G>TG	c.(235-237)tgtfs	p.C79fs	USP44_uc001teh.3_Frame_Shift_Ins_p.C79fs|USP44_uc009zte.3_Frame_Shift_Ins_p.C76fs	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	79					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						ACAAAGGTAACAAAAAACGTAC	0.391											OREG0022039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	95927799	-	A	95927798	7	5	55	1	0	1	1	0	0	0	0	0	17072	130	5	0	1923	0	USP44	12	95927798	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	1	95927798	37924097	1125	42473	147	2									
LTA4H	4048	broad.mit.edu	37	chr12	96412600	96412600	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catgccaccataagggaaggAtggtggcaggaccaataggt	14	8	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:96412600A>T	uc001ten.1	-	8	861	c.793T>A	c.(793-795)TCC>ACC	p.S265T	LTA4H_uc010suy.1_Missense_Mutation_p.S227T|LTA4H_uc010suz.1_Missense_Mutation_p.S227T|LTA4H_uc010sva.1_RNA	NM_000895	NP_000886	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	265					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)	1						TAAGGGAAGGATGGTGGCAGG	0.393													T	96412600	A	T	96412600	3	4	55	1	0	0	0	0	1	0	0	0	9069	333	12	5	1090	5	LTA4H	12	96412600	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	484802	96412600	37439295	1126	42474											
UTP20	27340	broad.mit.edu	37	chr12	101739426	101739426	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggtacaacttactcattAccatgacccagaaatggact	6	11	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:101739426A>G	uc001tia.1	+	37	4856	c.4700A>G	c.(4699-4701)TAC>TGC	p.Y1567C		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	1567					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						CTTACTCATTACCATGACCCA	0.358													G	101739426	A	G	101739426	3	3	55	1	0	0	0	0	1	0	0	0	17096	391	14	3	4846	3	UTP20	12	101739426	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	5326826	101739426	32112469	1127	42475											
GNPTAB	79158	broad.mit.edu	37	chr12	102164318	102164318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caatgagtacctcagttcttCgttatcttcaaaacgactgg	7	10	4	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:102164318C>T	uc001tit.2	-	9	1158	c.979G>A	c.(979-981)GAA>AAA	p.E327K	GNPTAB_uc001tiu.1_Missense_Mutation_p.E327K	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	327					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2						CTCAGTTCTTCGTTATCTTCA	0.448													T	102164318	C	T	102164318	3	4	55	1	0	0	0	0	1	0	0	0	6545	893	31	1	2843	1	GNPTAB	12	102164318	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	424892	102164318	31687577	1128	42476											
ASCL1	429	broad.mit.edu	37	chr12	103352324	103352324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaactgatgcgctgcaaacGccggctcaacttcagcggct	11	14	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:103352324G>A	uc001tjr.3	+	1	873	c.302G>A	c.(301-303)CGC>CAC	p.R101H		NM_004316	NP_004307	P50553	ASCL1_HUMAN	achaete-scute complex homolog 1	101					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0						CGCTGCAAACGCCGGCTCAAC	0.697													A	103352324	G	A	103352324	3	1	55	1	0	0	0	0	1	0	0	0	1034	1087	38	1	304	1	ASCL1	12	103352324	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1188006	103352324	30499571	1129	42477											
C12orf42	374470	broad.mit.edu	37	chr12	103696040	103696040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccagcagaggaaggggcGctcctgccagattgccatgg	16	12	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:103696040G>A	uc001tjt.2	-	6	1017	c.929C>T	c.(928-930)GCG>GTG	p.A310V	C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.A310V|C12orf42_uc001tju.2_Missense_Mutation_p.A215V	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	hypothetical protein LOC374470	310										ovary(1)|central_nervous_system(1)	2						AGGAAGGGGCGCTCCTGCCAG	0.642													A	103696040	G	A	103696040	3	1	55	1	0	0	0	0	1	0	0	0	1688	1087	38	1	157	1	C12orf42	12	103696040	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	343716	103696040	30155855	1130	42478											
STAB2	55576	broad.mit.edu	37	chr12	104078853	104078853	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctttctgtgctatggaaaCgcagcagtggtaagtcatcg	13	8	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:104078853C>T	uc001tjw.2	+	27	3174	c.2988C>T	c.(2986-2988)AAC>AAT	p.N996N		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	996	Extracellular (Potential).|FAS1 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						GCTATGGAAACGCAGCAGTGG	0.413													T	104078853	C	T	104078853	2	4	55	1	0	0	0	0	0	0	0	1	15237	535	19	1		1	STAB2	12	104078853	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	382813	104078853	29773042	1131	42479											
RIC8B	55188	broad.mit.edu	37	chr12	107208552	107208552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctgcctggaagtactcCgcattctctccagagacaaa	8	13	1	1	rs141049479		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:107208552C>T	uc001tlx.2	+	3	336	c.211C>T	c.(211-213)CGC>TGC	p.R71C	RIC8B_uc001tlw.2_Missense_Mutation_p.R71C|RIC8B_uc001tly.2_Missense_Mutation_p.R31C|RIC8B_uc001tlz.2_RNA	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	resistance to inhibitors of cholinesterase 8	71					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			ovary(1)	1						GGAAGTACTCCGCATTCTCTC	0.403													T	107208552	C	T	107208552	3	4	55	1	0	0	0	0	1	0	0	0	13356	652	23	1	221	1	RIC8B	12	107208552	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3129699	107208552	26643343	1132	42480											
DAO	1610	broad.mit.edu	37	chr12	109278931	109278931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaccgacgtggctgccgGcctctggcagccctaccttt	10	18	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:109278931G>A	uc001tnr.3	+	2	302	c.149G>A	c.(148-150)GGC>GAC	p.G50D	DAO_uc001tnq.3_Missense_Mutation_p.G50D|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	NM_001917	NP_001908	P14920	OXDA_HUMAN	D-amino-acid oxidase	50	FAD.				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			ovary(1)|skin(1)	2						GTGGCTGCCGGCCTCTGGCAG	0.612													A	109278931	G	A	109278931	3	1	55	1	0	0	0	0	1	0	0	0	4231	1203	42	2	151	2	DAO	12	109278931	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2070379	109278931	24572964	1133	42481											
FOXN4	121643	broad.mit.edu	37	chr12	109723308	109723308	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgagttcttccacccgtcGggggccgtctatgaagacac	11	14	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:109723308G>A	uc001toe.3	-	8	807	c.702C>T	c.(700-702)CCC>CCT	p.P234P	FOXN4_uc009zvg.2_Silent_p.P31P|FOXN4_uc001tof.3_Silent_p.P54P	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	forkhead box N4	234	Fork-head.				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)|lung(1)	2						TCCACCCGTCGGGGGCCGTCT	0.607													A	109723308	G	A	109723308	2	1	55	1	0	0	0	0	0	0	0	1	6022	1103	39	1		1	FOXN4	12	109723308	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	444377	109723308	24128587	1134	42482											
MYL2	4633	broad.mit.edu	37	chr12	111356964	111356964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaacacgttggagttggCgcccccggctctcttctttg	13	12	2	1	rs104894363		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:111356964C>T	uc001try.3	-	2	108	c.37G>A	c.(37-39)GCC>ACC	p.A13T	MYL2_uc001trx.3_5'UTR	NM_000432	NP_000423	P10916	MLRV_HUMAN	slow cardiac myosin regulatory light chain 2	13			A -> T (in MVC2).		cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			ovary(1)	1						TTGGAGTTGGCGCCCCCGGCT	0.507													T	111356964	C	T	111356964	3	4	55	1	0	0	0	0	1	0	0	0	10047	768	27	1	487	1	MYL2	12	111356964	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1633656	111356964	22494931	1135	42483											
CUX2	23316	broad.mit.edu	37	chr12	111785560	111785560	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggacaaggcccaagtgaggAtcaagcaggaacagatggag	15	7	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:111785560A>G	uc001tsa.1	+	22	4045	c.3892A>G	c.(3892-3894)ATC>GTC	p.I1298V		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1298						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						CCAAGTGAGGATCAAGCAGGA	0.607													G	111785560	A	G	111785560	3	3	55	1	0	0	0	0	1	0	0	0	4065	333	12	3	3978	3	CUX2	12	111785560	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	428596	111785560	22066335	1136	42484											
FAM109A	144717	broad.mit.edu	37	chr12	111800988	111800988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccgggtccccgcaaagcGcacagcgaaggcgaactcct	12	17	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:111800988G>A	uc001tsd.3	-	3	635	c.244C>T	c.(244-246)CGC>TGC	p.R82C	FAM109A_uc009zvu.2_Silent_p.C62C|FAM109A_uc001tsc.2_Missense_Mutation_p.R105C	NM_144671	NP_653272	Q8N4B1	SESQ1_HUMAN	hypothetical protein LOC144717	82	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity				0						CCCGCAAAGCGCACAGCGAAG	0.682													A	111800988	G	A	111800988	3	1	55	1	0	0	0	0	1	0	0	0	5394	1087	38	1	509	1	FAM109A	12	111800988	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	15428	111800988	22050907	1137	42485											
NAA25	80018	broad.mit.edu	37	chr12	112485518	112485518	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttaagtctctgttgtctcGcaaatcttcccatggaatgt	7	9	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:112485518G>A	uc001ttm.2	-	17	1977	c.1957C>T	c.(1957-1959)CGA>TGA	p.R653*	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Nonsense_Mutation_p.R625*|NAA25_uc009zwa.1_Nonsense_Mutation_p.R653*	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	653						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						CTGTTGTCTCGCAAATCTTCC	0.353													A	112485518	G	A	112485518	4	1	55	1	0	0	0	0	0	1	0	0	10121	1095	38	1	993	1	NAA25	12	112485518	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	684530	112485518	21366377	1138	42486											
DTX1	1840	broad.mit.edu	37	chr12	113515382	113515382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctacgagaagcagcaccCgtggctcgacctctcatcgc	10	17	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:113515382C>T	uc001tuk.1	+	2	749	c.413C>T	c.(412-414)CCG>CTG	p.P138L		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	138	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						AAGCAGCACCCGTGGCTCGAC	0.502													T	113515382	C	T	113515382	3	4	55	1	0	0	0	0	1	0	0	0	4793	652	23	1	419	1	DTX1	12	113515382	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1029864	113515382	20336513	1139	42487											
SDS	10993	broad.mit.edu	37	chr12	113835064	113835064	+	Frame_Shift_Del	DEL	C	C	-													catggcgatgacaggcacgtCcccccagcccacctcctgca							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:113835063_113835063TC>T	uc001tvg.3	-	5	682	c.560_560GA>A	c.(559-561)gacfs	p.D187fs	SDS_uc001tvh.1_Frame_Shift_Del_p.D187fs	NM_006843	NP_006834	P20132	SDHL_HUMAN	Homo sapiens serine dehydratase (SDS), mRNA.	187					L-serine catabolic process|gluconeogenesis|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GACAGGCACGTCCCCCCAGCC	0.657													-	113835064	C	-	113835064	7	5	55	1	0	1	0	1	0	0	0	0	13975	855	30	0	439	0	SDS	12	113835064	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	319682	113835064	20016831	1140	42488											
KSR2	283455	broad.mit.edu	37	chr12	118199032	118199032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcggcggggtgcggaccGcgtgccgctgccggggcgat	21	13	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:118199032G>A	uc001two.2	-	4	738	c.683C>T	c.(682-684)GCG>GTG	p.A228V		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	257	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTGCGGACCGCGTGCCGCTG	0.736													A	118199032	G	A	118199032	3	1	55	1	0	0	0	0	1	0	0	0	8582	1087	38	1	2150	1	KSR2	12	118199032	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	4363968	118199032	15652863	1141	42489											
CIT	11113	broad.mit.edu	37	chr12	120172994	120172994	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtaagctgcatctctcGttccgtgatctcccggcgga	12	13	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:120172994G>A	uc001txi.1	-	24	3054	c.3001C>T	c.(3001-3003)CGA>TGA	p.R1001*	CIT_uc001txh.1_Nonsense_Mutation_p.R535*|CIT_uc001txj.1_Nonsense_Mutation_p.R1043*	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1001	Potential.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGCATCTCTCGTTCCGTGATC	0.512													A	120172994	G	A	120172994	4	1	55	1	0	0	0	0	0	1	0	0	3438	1153	40	1	3178	1	CIT	12	120172994	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1973962	120172994	13678901	1142	42490											
GCN1L1	10985	broad.mit.edu	37	chr12	120621397	120621397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttccagatgtctccttgtCgcttggctctcgatggaaag	11	10	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:120621397C>T	uc001txo.2	-	5	414	c.401G>A	c.(400-402)CGA>CAA	p.R134Q		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	134					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCTCCTTGTCGCTTGGCTCT	0.542													T	120621397	C	T	120621397	3	4	55	1	0	0	0	0	1	0	0	0	6299	884	31	1	7830	1	GCN1L1	12	120621397	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	448403	120621397	13230498	1143	42491											
MSI1	4440	broad.mit.edu	37	chr12	120800903	120800903	+	Frame_Shift_Del	DEL	C	C	-													accgtggtgttcaccgacagCccccccacaaagatcttctt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:120800902_120800902GC>G	uc001tye.1	-	5	410	c.346_346GC>C	c.(346-348)ctgfs	p.L116fs		NM_002442	NP_002433	O43347	MSI1H_HUMAN	Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA.	116	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACA	0.562													-	120800903	C	-	120800903	7	5	55	1	0	1	0	1	0	0	0	0	9875	726	26	0	779	0	MSI1	12	120800903	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	179506	120800903	13050992	1144	42492											
HNF1A	6927	broad.mit.edu	37	chr12	121416638	121416639	+	Frame_Shift_Del	DEL	AA	AA	-													tgctcgagtcagggctgagcAaagaggcactgatccaggca							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:121416637_121416638CAA>C	uc001tzg.3	+	0	89_90	c.66_67CAA>C	c.(64-69)agcaaafs	p.S22fs	HNF1A_uc021rex.1_5'UTR|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Frame_Shift_Del_p.S22fs|HNF1A_uc001tze.2_Frame_Shift_Del_p.S22fs|HNF1A_uc001tzf.3_Frame_Shift_Del_p.S22fs|HNF1A_uc010szn.2_Frame_Shift_Del_p.S22fs|HNF1A_uc021rfa.1_Frame_Shift_Del_p.S22fs|HNF1A_uc021rfb.1_5'UTR|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	22	Dimerization.				glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.L21fs*1(1)|p.?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGGGCTGAGCAAAGAGGCACT	0.693									Hepatic Adenoma, Familial Clustering of				-	121416639	AA	-	121416638	7	5	55	1	0	1	0	1	0	0	0	0	7251	131	5	0	69	0	HNF1A	12	121416638	Frame_Shift_Del	DEL	AA	TCGA-BR-7851-01A-11D-2201-08	615735	121416638	12435257	1145	42493											
CLIP1	6249	broad.mit.edu	37	chr12	122773037	122773037	+	Splice_Site	DEL	T	T	-													caataaacagaaagcttaccTttttttcatttctaacaact							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:122773036_122773036CT>C	uc001ucg.2	-	21	3802	c.3647_splice	c.e21+1	p.R1216_splice	CLIP1_uc001uch.1_Splice_Site_p.R1205_splice|CLIP1_uc001uci.1_Splice_Site_p.R1170_splice|CLIP1_uc001ucj.1_Splice_Site_p.R791_splice	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1216					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GAAAGCTTACCTTTTTTTCAT	0.328													-	122773037	T	-	122773037	8	5	55	1	0	1	0	1	0	0	1	0	3532	1623	56	0	694	0	CLIP1	12	122773037	Splice_Site	DEL	T	TCGA-BR-7851-01A-11D-2201-08	1356399	122773037	11078858	1146	42494											
CLIP1	6249	broad.mit.edu	37	chr12	122825691	122825691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccatctctttagcatggGcagcccgttcagagtcttgt	9	12	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:122825691G>A	uc001ucg.1	-	10	2166	c.2060C>T	c.(2059-2061)GCC>GTC	p.A687V	CLIP1_uc001uch.1_Missense_Mutation_p.A676V|CLIP1_uc001uci.1_Missense_Mutation_p.A641V|CLIP1_uc001ucj.1_Missense_Mutation_p.A377V|CLIP1_uc009zxo.1_Missense_Mutation_p.A243V	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	687	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTTAGCATGGGCAGCCCGTTC	0.393													A	122825691	G	A	122825691	3	1	55	1	0	0	0	0	1	0	0	0	3532	1203	42	2	2320	2	CLIP1	12	122825691	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	52654	122825691	11026204	1147	42495											
HIP1R	9026	broad.mit.edu	37	chr12	123343608	123343608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtcctttctcaccccagGcctcatagacacctgcaggg	9	16	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:123343608G>A	uc001udj.1	+	22	2218	c.2159G>A	c.(2158-2160)CGC>CAC	p.R720H	HIP1R_uc001udk.1_5'UTR	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	720					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CTCACCCCAGGCCTCATAGAC	0.667													A	123343608	G	A	123343608	3	1	55	1	0	0	0	0	1	0	0	0	7115	1217	42	2	2245	2	HIP1R	12	123343608	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	517917	123343608	10508287	1148	42496											
PITPNM2	57605	broad.mit.edu	37	chr12	123485614	123485614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaccttgtgtgtcttcCggctctgggctctcgatctt	11	12	4	1	rs145437742	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:123485614C>T	uc001uej.1	-	8	1279	c.1140G>A	c.(1138-1140)CCG>CCA	p.P380P	PITPNM2_uc001uek.1_Silent_p.P380P|PITPNM2_uc009zxu.1_Silent_p.P380P	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	380					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTGTGTCTTCCGGCTCTGGGC	0.597													T	123485614	C	T	123485614	2	4	55	1	0	0	0	0	0	0	0	1	11951	639	23	1		1	PITPNM2	12	123485614	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	142006	123485614	10366281	1149	42497											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123651237	123651237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccagctggttatccacGttactgtcctgggtgtccag	10	13	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:123651237G>A	uc001uel.2	-	13	2207	c.2100C>T	c.(2098-2100)AAC>AAT	p.N700N	MPHOSPH9_uc010tal.1_Silent_p.N154N|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Silent_p.N154N	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	700					M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GGTTATCCACGTTACTGTCCT	0.458													A	123651237	G	A	123651237	2	1	55	1	0	0	0	0	0	0	0	1	9728	1136	40	1		1	MPHOSPH9	12	123651237	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	165623	123651237	10200658	1150	42498											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124229435	124229435	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctttttgttacagtgacagCgtcgttagacacaacagcat	9	9	0	2	rs142454880	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:124229435C>A	uc001ufr.2	+	13	1769	c.1521C>A	c.(1519-1521)AGC>AGA	p.S507R		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	507	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		ACAGTGACAGCGTCGTTAGAC	0.527													A	124229435	C	A	124229435	3	1	55	1	0	0	0	0	1	0	0	0	1169	767	27	5	1571	5	ATP6V0A2	12	124229435	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	578198	124229435	9622460	1151	42499											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124235765	124235765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatgggcgtagttgcttcGgggtgaaccgggtaagtgcg	17	7	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:124235765G>A	uc001ufr.2	+	16	2292	c.2044G>A	c.(2044-2046)GGG>AGG	p.G682R		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	682	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TAGTTGCTTCGGGGTGAACCG	0.502													A	124235765	G	A	124235765	3	1	55	1	0	0	0	0	1	0	0	0	1169	1116	39	1	2106	1	ATP6V0A2	12	124235765	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	6330	124235765	9616130	1152	42500											
DNAH10	196385	broad.mit.edu	37	chr12	124411254	124411254	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccacattcgcccattgtgTttatcctgagtcctggctcc	7	15	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:124411254T>C	uc001uft.3	+	68	11663	c.11638T>C	c.(11638-11640)TTT>CTT	p.F3880L	DNAH10_uc001ufu.3_5'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3880	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCCCATTGTGTTTATCCTGAG	0.468													C	124411254	T	C	124411254	3	2	55	1	0	0	0	0	1	0	0	0	4598	1725	60	3	11908	3	DNAH10	12	124411254	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	175489	124411254	9440641	1153	42501											
SCARB1	949	broad.mit.edu	37	chr12	125298818	125298818	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttgttgatgagattcacaAgggggtccttgtagccccac	11	10	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:125298818A>G	uc001ugo.3	-	4	813	c.560T>C	c.(559-561)CTT>CCT	p.L187P	SCARB1_uc001ugn.3_Missense_Mutation_p.L187P|SCARB1_uc001ugm.3_Missense_Mutation_p.L187P|SCARB1_uc010tbd.1_Missense_Mutation_p.L187P|SCARB1_uc010tbe.1_Missense_Mutation_p.L146P|SCARB1_uc001ugp.3_Missense_Mutation_p.L187P	NM_005505	NP_005496	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1 isoform 1	187	Extracellular (Potential).				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			kidney(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GAGATTCACAAGGGGGTCCTT	0.517													G	125298818	A	G	125298818	3	3	55	1	0	0	0	0	1	0	0	0	13881	72	3	3	1129	3	SCARB1	12	125298818	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	887564	125298818	8553077	1154	42502											
FZD10	11211	broad.mit.edu	37	chr12	130648820	130648820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagctcatggtgcgtatcGggctcttctctgtgctgtac	12	10	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:130648820G>A	uc001uii.2	+	1	1789	c.1333G>A	c.(1333-1335)GGG>AGG	p.G445R	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	445	Helical; Name=6; (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GGTGCGTATCGGGCTCTTCTC	0.587													A	130648820	G	A	130648820	3	1	55	1	0	0	0	0	1	0	0	0	6129	1116	39	1	1335	1	FZD10	12	130648820	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5350002	130648820	3203075	1155	42503											
GPR133	283383	broad.mit.edu	37	chr12	131488738	131488738	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccaccgcagagttttcCgtggccaaaatcctgcccaa	7	16	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:131488738C>T	uc001uit.3	+	11	1711	c.1152C>T	c.(1150-1152)TCC>TCT	p.S384S	GPR133_uc010tbm.1_Silent_p.S416S	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	384	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CAGAGTTTTCCGTGGCCAAAA	0.577													T	131488738	C	T	131488738	2	4	55	1	0	0	0	0	0	0	0	1	6643	639	23	1		1	GPR133	12	131488738	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	839918	131488738	2363157	1156	42504											
EP400	57634	broad.mit.edu	37	chr12	132539679	132539679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgatcgtgaacaccatcGcaggggtcccagctgccacc	11	14	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:132539679G>A	uc001ujn.2	+	44	7845	c.7810G>A	c.(7810-7812)GCA>ACA	p.A2604T	EP400_uc001ujl.2_Missense_Mutation_p.A2603T|EP400_uc001ujm.2_Missense_Mutation_p.A2523T	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2640	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAACACCATCGCAGGGGTCCC	0.602													A	132539679	G	A	132539679	3	1	55	1	0	0	0	0	1	0	0	0	5149	1087	38	1	7981	1	EP400	12	132539679	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1050941	132539679	1312216	1157	42505											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20237231	20237231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcaggagcttttgtaaatGtccagcaaagcaatggtgag	12	6	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:20237231G>A	uc001umh.2	+	9	1993	c.1984G>A	c.(1984-1986)GTC>ATC	p.V662I	MPHOSPH8_uc001umg.2_Missense_Mutation_p.V662I	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	662	ANK 2.				cell cycle	cytoplasm|nucleus					0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		TTTTGTAAATGTCCAGCAAAG	0.398													A	20237231	G	A	20237231	3	1	55	1	0	0	0	0	1	0	0	0	9727	1377	48	4	2018	4	MPHOSPH8	13	20237231	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08		20237231	94932647	1158	42506											
ZMYM5	9205	broad.mit.edu	37	chr13	20426142	20426142	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtatagattcaataaacacaAcatcatcatcatcatcatca	2	10	7	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:20426142A>T	uc010tcn.1	-	3	444	c.179T>A	c.(178-180)GTT>GAT	p.V60D	ZMYM5_uc001umm.1_Translation_Start_Site|ZMYM5_uc001umn.2_Missense_Mutation_p.V60D|ZMYM5_uc001umo.2_Missense_Mutation_p.V60D	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	60						nucleus	zinc ion binding				0		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		AATAAACACAAcatcatcatc	0.338													T	20426142	A	T	20426142	3	4	55	1	0	0	0	0	1	0	0	0	17700	43	2	5	1965	5	ZMYM5	13	20426142	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	188911	20426142	94743736	1159	42507											
ZMYM2	7750	broad.mit.edu	37	chr13	20608488	20608488	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaatactgtcaagaggagaAgactcttcatgaaacagtaa	9	7	3	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:20608488A>C	uc001umr.2	+	12	2361	c.2063A>C	c.(2062-2064)AAG>ACG	p.K688T	ZMYM2_uc001ums.2_Missense_Mutation_p.K688T|ZMYM2_uc001umt.2_Missense_Mutation_p.K688T|ZMYM2_uc010tco.1_RNA|ZMYM2_uc001umv.2_Missense_Mutation_p.K68T|ZMYM2_uc001umw.2_Missense_Mutation_p.K141T	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	688	MYM-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CAAGAGGAGAAGACTCTTCAT	0.348													C	20608488	A	C	20608488	3	2	55	1	0	0	0	0	1	0	0	0	17697	72	3	5	2097	5	ZMYM2	13	20608488	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	182346	20608488	94561390	1160	42508											
XPO4	64328	broad.mit.edu	37	chr13	21429838	21429838	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagtcaattgatttatcTaatgatcctctttttacaat	4	7	3	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:21429838T>C	uc001unq.3	-	4	420	c.384A>G	c.(382-384)TTA>TTG	p.L128L	XPO4_uc010tcr.1_Silent_p.L54L	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	128					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TTGATTTATCTAATGATCCTC	0.323													C	21429838	T	C	21429838	2	2	55	1	0	0	0	0	0	0	0	1	17443	1519	53	3		3	XPO4	13	21429838	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	821350	21429838	93740040	1161	42509											
LATS2	26524	broad.mit.edu	37	chr13	21557370	21557370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagacaatacctttctgGtaatatttggaattgtgagt	8	6	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:21557370G>A	uc009zzs.2	-	5	2840	c.2475C>T	c.(2473-2475)TAC>TAT	p.Y825Y	LATS2_uc001unr.3_Silent_p.Y825Y	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	825	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TACCTTTCTGGTAATATTTGG	0.423													A	21557370	G	A	21557370	2	1	55	1	0	0	0	0	0	0	0	1	8647	1256	44	4		4	LATS2	13	21557370	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	127532	21557370	93612508	1162	42510											
LATS2	26524	broad.mit.edu	37	chr13	21557772	21557772	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttcatggcgtacagggcGtgagtgtccaccttacaagc	12	11	2	1	rs146555029	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:21557772G>A	uc009zzs.2	-	5	2438	c.2073C>T	c.(2071-2073)CAC>CAT	p.H691H	LATS2_uc001unr.3_Silent_p.H691H	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	691	Protein kinase.|ATP (By similarity).				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGTACAGGGCGTGAGTGTCCA	0.537													A	21557772	G	A	21557772	2	1	55	1	0	0	0	0	0	0	0	1	8647	1136	40	1		1	LATS2	13	21557772	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	402	21557772	93612106	1163	42511											
FGF9	2254	broad.mit.edu	37	chr13	22275388	22275388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaaaactggtataatacGtactcatcaaacctatataa	5	7	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:22275388G>A	uc001uog.2	+	3	1278	c.441G>A	c.(439-441)ACG>ACA	p.T147T		NM_002010	NP_002001	P31371	FGF9_HUMAN	fibroblast growth factor 9 precursor	147					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding				0		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GGTATAATACGTACTCATCAA	0.348													A	22275388	G	A	22275388	2	1	55	1	0	0	0	0	0	0	0	1	5859	1132	40	1		1	FGF9	13	22275388	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	717616	22275388	92894490	1164	42512											
RNF17	56163	broad.mit.edu	37	chr13	25363909	25363912	+	Splice_Site	DEL	AAGT	AAGT	-													ttgaatttagggactcaacaAagtaagtatttataagcatg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:25363908_25363911AAAGT>A	uc001upr.3	+	9	976	c.935_splice	c.e9+1	p.K312_splice	RNF17_uc010tdd.1_Splice_Site_p.K171_splice|RNF17_uc010tde.2_Splice_Site_p.K312_splice|RNF17_uc010aab.3_Splice_Site|RNF17_uc001ups.3_Splice_Site_p.K251_splice|RNF17_uc001upq.1_Splice_Site_p.K312_splice	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	312					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GGGACTCAACAAAGTAAGTATTTA	0.309													-	25363912	AAGT	-	25363909	8	5	55	1	0	1	0	1	0	0	1	0	13461	28	1	0	968	0	RNF17	13	25363909	Splice_Site	DEL	AAGT	TCGA-BR-7851-01A-11D-2201-08	3088521	25363909	89805969	1165	42513											
CENPJ	55835	broad.mit.edu	37	chr13	25463471	25463471	+	Frame_Shift_Del	DEL	T	T	-													taccttgcattggaagataaTttttcttgtatttttctacc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:25463471delT	uc001upt.3	-	11	3537	c.3284delA	c.(3283-3285)AATfs	p.N1095fs	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_Intron|CENPJ_uc001upu.2_Frame_Shift_Del_p.N129fs	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	1095					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TGGAAGATAATTTTTCTTGTA	0.274													-	25463471	T	-	25463471	7	5	55	1	0	1	0	1	0	0	0	0	3234	1493	52	0	760	0	CENPJ	13	25463471	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	99562	25463471	89706407	1166	42514											
GPR12	2835	broad.mit.edu	37	chr13	27333685	27333685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attggtgatgagtccaatgcCggccagcaggtctgcaagag	14	9	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:27333685C>T	uc010aal.2	-	2	502	c.280G>A	c.(280-282)GGC>AGC	p.G94S	GPR12_uc010tdl.1_Intron	NM_005288	NP_005279	P47775	GPR12_HUMAN	G protein-coupled receptor 12	94	Helical; Name=2; (Potential).					integral to plasma membrane					0	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		AGTCCAATGCCGGCCAGCAGG	0.532													T	27333685	C	T	27333685	3	4	55	1	0	0	0	0	1	0	0	0	6635	652	23	1	728	1	GPR12	13	27333685	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1870214	27333685	87836193	1167	42515											
GSX1	219409	broad.mit.edu	37	chr13	28367781	28367781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctgctagagctggagcGcgagttcgcttctaatatgt	13	9	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:28367781G>A	uc001urr.1	+	2	539	c.491G>A	c.(490-492)CGC>CAC	p.R164H		NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	GS homeobox 1	164	Homeobox.				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GAGCTGGAGCGCGAGTTCGCT	0.567													A	28367781	G	A	28367781	3	1	55	1	0	0	0	0	1	0	0	0	6849	1087	38	1	497	1	GSX1	13	28367781	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1034096	28367781	86802097	1168	42516											
HSPH1	10808	broad.mit.edu	37	chr13	31715382	31715382	+	Frame_Shift_Del	DEL	T	T	-													gcttctggaggctggtcaacTtttttttcatttgccttggg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:31715381_31715381CT>C	uc001utl.3	-	12	2009	c.1738_1738AG>G	c.(1738-1740)gttfs	p.V580fs	HSPH1_uc001utj.3_Frame_Shift_Del_p.V578fs|HSPH1_uc001utk.3_Frame_Shift_Del_p.V534fs|HSPH1_uc010aaw.3_Frame_Shift_Del_p.V537fs|HSPH1_uc010tds.2_Frame_Shift_Del_p.V502fs	NM_006644	NP_006635	Q92598	HS105_HUMAN	Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.	578					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GGCTGGTCAACTTTTTTTTCA	0.378													-	31715382	T	-	31715382	7	5	55	1	0	1	0	1	0	0	0	0	7431	1606	56	0	869	0	HSPH1	13	31715382	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	3347601	31715382	83454496	1169	42517											
B3GALTL	145173	broad.mit.edu	37	chr13	31897940	31897940	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgccagtaaatgtcgaTgctacagcaatgatgctccc	8	12	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:31897940T>C	uc010aaz.2	+	14	1347	c.1237T>C	c.(1237-1239)TGC>CGC	p.C413R	B3GALTL_uc001utn.3_RNA|B3GALTL_uc001uto.3_Missense_Mutation_p.C18R	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	413	Lumenal (Potential).				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		TAAATGTCGATGCTACAGCAA	0.517													C	31897940	T	C	31897940	3	2	55	1	0	0	0	0	1	0	0	0	1252	1464	51	3	1291	3	B3GALTL	13	31897940	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	182558	31897940	83271938	1170	42518											
DCLK1	9201	broad.mit.edu	37	chr13	36699914	36699914	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcaccttccaccagttggtCcaggctggaaatcttcttga	8	13	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:36699914C>A	uc001uvf.2	-	2	594	c.361G>T	c.(361-363)GAC>TAC	p.D121Y		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	121	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ACCAGTTGGTCCAGGCTGGAA	0.527													A	36699914	C	A	36699914	3	1	55	1	0	0	0	0	1	0	0	0	4291	855	30	5	1896	5	DCLK1	13	36699914	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	4801974	36699914	78469964	1171	42519											
POSTN	10631	broad.mit.edu	37	chr13	38171342	38171342	+	Frame_Shift_Del	DEL	T	T	-													ttttctgtccacagatggacTttttataccagttcttacaa							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:38171341_38171341CT>C	uc001uwo.4	-	1	316	c.198_198AG>G	c.(196-198)aagfs	p.K66fs	POSTN_uc001uwp.4_Frame_Shift_Del_p.K66fs|POSTN_uc001uwr.3_Frame_Shift_Del_p.K66fs|POSTN_uc001uwq.3_Frame_Shift_Del_p.K66fs|POSTN_uc010teu.1_Frame_Shift_Del_p.K66fs|POSTN_uc010tev.1_Frame_Shift_Del_p.K66fs|POSTN_uc010tew.1_Frame_Shift_Del_p.K66fs|POSTN_uc010tex.1_5'UTR	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	66	EMI.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CACAGATGGACTTTTTATACC	0.393													-	38171342	T	-	38171342	7	5	55	1	0	1	0	1	0	0	0	0	12259	1609	56	0	2401	0	POSTN	13	38171342	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	1471428	38171342	76998536	1172	42520											
WBP4	11193	broad.mit.edu	37	chr13	41645703	41645704	+	Frame_Shift_Ins	INS	-	-	A													aaggatttcaaggagacttaINSaaaaaggtaattgaagcata							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:41645702_41645703T>TA	uc001uxt.3	+	5	592_593	c.479_480T>TA	c.(478-480)ttafs	p.L160fs	WBP4_uc010tfd.2_Frame_Shift_Ins_p.L139fs	NM_007187	NP_009118	O75554	WBP4_HUMAN	Homo sapiens WW domain binding protein 4 (formin binding protein 21) (WBP4), mRNA.	160					nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		CAAGGAGACTTAAAAAAGGTAA	0.272													A	41645704	-	A	41645703	7	5	55	1	0	1	1	0	0	0	0	0	17258	359	13	0	502	0	WBP4	13	41645703	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	3474361	41645703	73524175	1173	42521											
DGKH	160851	broad.mit.edu	37	chr13	42784857	42784857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcaacagaagaggtgtcGcagatgcagctatgctccca	12	10	0	3	rs142298264		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:42784857G>A	uc001uyl.1	+	24	2991	c.2970G>A	c.(2968-2970)TCG>TCA	p.S990S	DGKH_uc010tfh.1_Silent_p.S990S|DGKH_uc001uym.1_Silent_p.S990S|DGKH_uc010tfi.1_Silent_p.S745S|DGKH_uc010tfj.1_Silent_p.S845S|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Silent_p.S845S|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	990					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AAGAGGTGTCGCAGATGCAGC	0.493													A	42784857	G	A	42784857	2	1	55	1	0	0	0	0	0	0	0	1	4470	1074	38	1		1	DGKH	13	42784857	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1139154	42784857	72385021	1174	42522											
AKAP11	11215	broad.mit.edu	37	chr13	42874000	42874000	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaactttagagacttgccTgtttaacaaagatcccgtca	6	10	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:42874000T>C	uc001uys.1	+	8	1293	c.1118T>C	c.(1117-1119)CTG>CCG	p.L373P		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	373					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GAGACTTGCCTGTTTAACAAA	0.368													C	42874000	T	C	42874000	3	2	55	1	0	0	0	0	1	0	0	0	447	1580	55	3	1140	3	AKAP11	13	42874000	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	89143	42874000	72295878	1175	42523											
SIAH3	283514	broad.mit.edu	37	chr13	46425658	46425658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgtggggttgacgacaCagacaagttgcccggcagcg	16	9	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:46425658C>T	uc001vap.2	-	1	189	c.107G>A	c.(106-108)TGT>TAT	p.C36Y		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	seven in absentia homolog 3	36					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			ovary(1)|skin(1)	2						GTTGACGACACAGACAAGTTG	0.522													T	46425658	C	T	46425658	3	4	55	1	0	0	0	0	1	0	0	0	14301	478	17	4	710	4	SIAH3	13	46425658	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3551658	46425658	68744220	1176	42524											
ZC3H13	23091	broad.mit.edu	37	chr13	46577381	46577381	+	Frame_Shift_Del	DEL	T	T	-													actttatatttttctttgtaTtttttccccagagcgatatc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:46577381delT	uc010tfw.1	-	7	843	c.837delA	c.(835-837)AAAfs	p.K279fs	ZC3H13_uc001vas.1_Frame_Shift_Del_p.K279fs|ZC3H13_uc001vat.1_Frame_Shift_Del_p.K279fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	279							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTTCTTTGTATTTTTTCCCCA	0.373													-	46577381	T	-	46577381	7	5	55	1	0	1	0	1	0	0	0	0	17562	1490	52	0	3897	0	ZC3H13	13	46577381	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	151723	46577381	68592497	1177	42525											
MLNR	2862	broad.mit.edu	37	chr13	49795007	49795007	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttcttgttcctggtgggCgtcgagcaggaccccggcat	13	14	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:49795007C>T	uc010tgj.1	+	1	534	c.534C>T	c.(532-534)GGC>GGT	p.G178G		NM_001507	NP_001498	O43193	MTLR_HUMAN	motilin receptor	178	Helical; Name=4; (Potential).				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity				0		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		TCCTGGTGGGCGTCGAGCAGG	0.726													T	49795007	C	T	49795007	2	4	55	1	0	0	0	0	0	0	0	1	9632	755	27	1		1	MLNR	13	49795007	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3217626	49795007	65374871	1178	42526											
RCBTB1	55213	broad.mit.edu	37	chr13	50115828	50115828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacctatagcatcttctggCggcaggtcgactgtgtctgt	12	10	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:50115828C>T	uc001vde.1	-	11	1569	c.1308G>A	c.(1306-1308)CCG>CCA	p.P436P		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and	436	BTB 1.				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(1)	1		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		CATCTTCTGGCGGCAGGTCGA	0.453													T	50115828	C	T	50115828	2	4	55	1	0	0	0	0	0	0	0	1	13171	755	27	1		1	RCBTB1	13	50115828	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	320821	50115828	65054050	1179	42527											
RNASEH2B	79621	broad.mit.edu	37	chr13	51519632	51519632	+	Frame_Shift_Del	DEL	T	T	-													cccgggtacagtcaactgcaTttttctctggtgaccaagct							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:51519631_51519631AT>A	uc001vfa.4	+	6	978	c.579_579AT>A	c.(577-579)gcafs	p.A193fs	RNASEH2B_uc001vfb.4_Frame_Shift_Del_p.A193fs	NM_024570	NP_078846	Q5TBB1	RNH2B_HUMAN	Homo sapiens ribonuclease H2, subunit B (RNASEH2B), transcript variant 1, mRNA.	193					RNA catabolic process	nucleus|ribonuclease H2 complex				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		AGTCAACTGCATTTTTCTCTG	0.408													-	51519632	T	-	51519632	7	5	55	1	0	1	0	1	0	0	0	0	13413	1493	52	0	606	0	RNASEH2B	13	51519632	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	1403804	51519632	63650246	1180	42528											
CKAP2	26586	broad.mit.edu	37	chr13	53049228	53049228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgatgcttttgtatgccgCcctaatgcagcactgtgccg	10	12	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:53049228C>T	uc001vgv.2	+	9	2201	c.2004C>T	c.(2002-2004)CGC>CGT	p.R668R	CKAP2_uc001vgu.2_Silent_p.R667R|CKAP2_uc010tha.1_Silent_p.R619R	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2 isoform 2	668					apoptosis|cell cycle	centrosome|microtubule|spindle pole				ovary(1)|skin(1)	2		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		TTGTATGCCGCCCTAATGCAG	0.408													T	53049228	C	T	53049228	2	4	55	1	0	0	0	0	0	0	0	1	3442	726	26	2		2	CKAP2	13	53049228	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1529596	53049228	62120650	1181	42529											
PCDH17	27253	broad.mit.edu	37	chr13	58208617	58208617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtccagcggcgagatccGcacgctgcaccctttctggg	12	17	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:58208617G>A	uc001vhq.1	+	1	2829	c.1937G>A	c.(1936-1938)CGC>CAC	p.R646H	PCDH17_uc010aec.1_Missense_Mutation_p.R646H	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	646	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGCGAGATCCGCACGCTGCAC	0.647													A	58208617	G	A	58208617	3	1	55	1	0	0	0	0	1	0	0	0	11512	1087	38	1	1939	1	PCDH17	13	58208617	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5159389	58208617	56961261	1182	42530											
KLF12	11278	broad.mit.edu	37	chr13	74420073	74420073	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccgactgtaccaccacGgggatgcggtgaacatgact	13	12	0	2	rs150481048	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:74420073G>A	uc001vjf.2	-	4	783	c.561C>T	c.(559-561)CCC>CCT	p.P187P	KLF12_uc010aeq.2_Silent_p.P187P|KLF12_uc001vjg.3_Silent_p.P187P	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	187					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		GTACCACCACGGGGATGCGGT	0.507													A	74420073	G	A	74420073	2	1	55	1	0	0	0	0	0	0	0	1	8340	1103	39	1		1	KLF12	13	74420073	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	16211456	74420073	40749805	1183	42531											
MYCBP2	23077	broad.mit.edu	37	chr13	77720321	77720321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggagttggtgatgcaaaaCgtagttcttcaaatgaataa	10	4	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:77720321C>T	uc001vkf.2	-	49	7140	c.7049G>A	c.(7048-7050)CGT>CAT	p.R2350H	MYCBP2_uc010aev.2_Missense_Mutation_p.R1754H	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2350	Filamin.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGATGCAAAACGTAGTTCTTC	0.323													T	77720321	C	T	77720321	3	4	55	1	0	0	0	0	1	0	0	0	10018	536	19	1	7017	1	MYCBP2	13	77720321	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3300248	77720321	37449557	1184	42532											
SLITRK5	26050	broad.mit.edu	37	chr13	88327910	88327910	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctaccacctcttgttgtcCggaaaccttttgaaccgtct	6	13	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:88327910C>T	uc001vln.2	+	2	486	c.267C>T	c.(265-267)TCC>TCT	p.S89S	SLITRK5_uc010tic.1_Intron	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	89	LRR 1.|Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCTTGTTGTCCGGAAACCTTT	0.458													T	88327910	C	T	88327910	2	4	55	1	0	0	0	0	0	0	0	1	14746	639	23	1		1	SLITRK5	13	88327910	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	10607589	88327910	26841968	1185	42533											
GPC5	2262	broad.mit.edu	37	chr13	92346050	92346050	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgcatggaacatacgacaTtggacacgtgctgctgaact	10	9	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:92346050T>C	uc010tif.1	+	3	1301	c.935T>C	c.(934-936)ATT>ACT	p.I312T		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	312						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ACATACGACATTGGACACGTG	0.488													C	92346050	T	C	92346050	3	2	55	1	0	0	0	0	1	0	0	0	6601	1493	52	3	945	3	GPC5	13	92346050	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	4018140	92346050	22823828	1186	42534											
GPC6	10082	broad.mit.edu	37	chr13	93879765	93879765	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggggctgctgctctcccTccccgccggggcggatgtga	15	15	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:93879765T>C	uc001vlt.2	+	1	688	c.56T>C	c.(55-57)CTC>CCC	p.L19P	GPC6_uc010tig.1_Missense_Mutation_p.L19P	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	19						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CTGCTCTCCCTCCCCGCCGGG	0.642											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	93879765	T	C	93879765	3	2	55	1	0	0	0	0	1	0	0	0	6602	1551	54	3	58	3	GPC6	13	93879765	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	1533715	93879765	21290113	1187	42535											
HS6ST3	266722	broad.mit.edu	37	chr13	97485156	97485156	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcaacctcaagttcatcTcccccttcacacagttcaac	2	17	6	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:97485156T>C	uc001vmw.2	+	2	1144	c.1120T>C	c.(1120-1122)TCC>CCC	p.S374P		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	374	Lumenal (Potential).					integral to membrane	sulfotransferase activity			ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CAAGTTCATCTCCCCCTTCAC	0.493													C	97485156	T	C	97485156	3	2	55	1	0	0	0	0	1	0	0	0	7372	1551	54	3	1126	3	HS6ST3	13	97485156	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	3605391	97485156	17684722	1188	42536											
RAP2A	5911	broad.mit.edu	37	chr13	98086825	98086825	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcatcgagaaatacgaccCcaccatcgaggacttctacc	6	15	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:98086825C>A	uc001vnd.2	+	1	351	c.101C>A	c.(100-102)CCC>CAC	p.P34H		NM_021033	NP_066361	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family precursor	34	Effector region (Probable).				actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)	1	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			AAATACGACCCCACCATCGAG	0.622													A	98086825	C	A	98086825	3	1	55	1	0	0	0	0	1	0	0	0	13040	623	22	5	103	5	RAP2A	13	98086825	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	601669	98086825	17083053	1189	42537											
TM9SF2	9375	broad.mit.edu	37	chr13	100191700	100191700	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaaatgtttcttcccacagCttcaaacatacccatataga	3	12	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:100191700C>A	uc001voj.1	+	7	850	c.717C>A	c.(715-717)AGC>AGA	p.S239R	TM9SF2_uc010afz.1_Intron	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2 precursor	239	Lumenal (Potential).				transport	endosome membrane|integral to plasma membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CTTCCCACAGCTTCAAACATA	0.383													A	100191700	C	A	100191700	3	1	55	1	0	0	0	0	1	0	0	0	15975	811	28	5	743	5	TM9SF2	13	100191700	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2104875	100191700	14978178	1190	42538											
NALCN	259232	broad.mit.edu	37	chr13	102029117	102029117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acatctgaactcctaaaattCcataaagaagtagaaagaaa	5	7	1	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:102029117C>T	uc001vox.1	-	6	767	c.578G>A	c.(577-579)GGA>GAA	p.G193E	NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.G193E|NALCN_uc001vpa.2_Missense_Mutation_p.G193E	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	193	Helical; Name=S5 of repeat I; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCTAAAATTCCATAAAGAAG	0.323													T	102029117	C	T	102029117	3	4	55	1	0	0	0	0	1	0	0	0	10148	855	30	4	4794	4	NALCN	13	102029117	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1837417	102029117	13140761	1191	42539											
NALCN	259232	broad.mit.edu	37	chr13	102047697	102047697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgatgatggcacagatgCgcagcaaagagtgaacccac	12	11	0	5			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:102047697C>T	uc001vox.1	-	3	317	c.128G>A	c.(127-129)CGC>CAC	p.R43H	NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.R43H|NALCN_uc001vpa.2_Missense_Mutation_p.R43H	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	43	Helical; Name=S1 of repeat I; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCACAGATGCGCAGCAAAGA	0.433													T	102047697	C	T	102047697	3	4	55	1	0	0	0	0	1	0	0	0	10148	768	27	1	5256	1	NALCN	13	102047697	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	18580	102047697	13122181	1192	42540											
ERCC5	2073	broad.mit.edu	37	chr13	103528225	103528225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagaaggaaactaagacGtgcgaggggaagaaaaagga	15	3	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:103528225G>A	uc001vpw.2	+	15	3976	c.3533G>A	c.(3532-3534)CGT>CAT	p.R1178H		NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	1178					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAACTAAGACGTGCGAGGGGA	0.398			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				A	103528225	G	A	103528225	3	1	55	1	0	0	0	0	1	0	0	0	5216	1145	40	1	3591	1	ERCC5	13	103528225	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1480528	103528225	11641653	1193	42541											
COL4A1	1282	broad.mit.edu	37	chr13	110839513	110839513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttggggccaggaagacccGgatggccatctcttccagga	13	13	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:110839513G>A	uc001vqw.3	-	25	1822	c.1700C>T	c.(1699-1701)CCG>CTG	p.P567L	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	567	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGGAAGACCCGGATGGCCATC	0.517													A	110839513	G	A	110839513	3	1	55	1	0	0	0	0	1	0	0	0	3689	1116	39	1	3421	1	COL4A1	13	110839513	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	7311288	110839513	4330365	1194	42542											
COL4A1	1282	broad.mit.edu	37	chr13	110864792	110864792	+	Frame_Shift_Del	DEL	G	G	-													cattgcatcctggaatacctGgggggcctggcgggccgtct							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:110864791_110864791TG>T	uc001vqw.4	-	5	482	c.360_360CA>A	c.(358-360)ccafs	p.P120fs		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	120					angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.P120Q(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGGAATACCTGGGGGGCCTG	0.458													-	110864792	G	-	110864792	7	5	55	1	0	1	0	1	0	0	0	0	3689	1348	47	0	4838	0	COL4A1	13	110864792	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	25279	110864792	4305086	1195	42543											
CARKD	55739	broad.mit.edu	37	chr13	111289536	111289536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggcaaggggacctcctgtCgggctccctgggcgtcctgg	17	13	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:111289536C>T	uc001vrb.2	+	9	847	c.833C>T	c.(832-834)TCG>TTG	p.S278L	CARKD_uc010tjj.1_Missense_Mutation_p.S260L|CARKD_uc001vqz.2_RNA|CARKD_uc001vra.2_RNA|CARKD_uc010tjk.1_Missense_Mutation_p.S168L|CARKD_uc010tjl.1_Missense_Mutation_p.S147L|CARKD_uc001vrc.2_Missense_Mutation_p.S278L			Q8IW45	CARKD_HUMAN	RecName: Full=Carbohydrate kinase domain-containing protein; Flags: Precursor;	278	YjeF C-terminal.									skin(1)	1						GACCTCCTGTCGGGCTCCCTG	0.582													T	111289536	C	T	111289536	3	4	55	1	0	0	0	0	1	0	0	0	2654	893	31	1	867	1	CARKD	13	111289536	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	424744	111289536	3880342	1196	42544											
MCF2L	23263	broad.mit.edu	37	chr13	113730324	113730324	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttacctgctggcctcacaAcctgtggacaagtgccagtc	9	13	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:113730324A>G	uc001vsu.2	+	12	1546	c.1524A>G	c.(1522-1524)CAA>CAG	p.Q508Q	MCF2L_uc001vsq.2_Silent_p.Q508Q|MCF2L_uc010tjr.1_Silent_p.Q451Q|MCF2L_uc001vsr.2_Silent_p.Q455Q|MCF2L_uc001vss.3_Silent_p.Q449Q|MCF2L_uc010tjs.1_Silent_p.Q449Q|MCF2L_uc001vst.1_Silent_p.Q413Q	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	481					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TGGCCTCACAACCTGTGGACA	0.572													G	113730324	A	G	113730324	2	3	55	1	0	0	0	0	0	0	0	1	9379	40	2	3		3	MCF2L	13	113730324	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	2440788	113730324	1439554	1197	42545											
F10	2159	broad.mit.edu	37	chr13	113793763	113793763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcacctgtttagaaggattcGaaggcaaaaactgtgaatta	10	6	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:113793763G>A	uc001vsx.2	+	4	406	c.349G>A	c.(349-351)GAA>AAA	p.E117K	F10_uc010agq.1_RNA|F10_uc001vsy.2_Missense_Mutation_p.E117K|F10_uc001vsz.2_Missense_Mutation_p.E117K	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	117	EGF-like 1; calcium-binding (Potential).				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			pancreas(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAAGGATTCGAAGGCAAAAA	0.512													A	113793763	G	A	113793763	3	1	55	1	0	0	0	0	1	0	0	0	5336	1059	37	1	363	1	F10	13	113793763	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	63439	113793763	1376115	1198	42546											
LAMP1	3916	broad.mit.edu	37	chr13	113973833	113973833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaccacagcgccccctgcGccacccagcccctcgccctc	6	26	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:113973833G>A	uc001vtm.1	+	5	893	c.612G>A	c.(610-612)GCG>GCA	p.A204A	LAMP1_uc010tka.1_Silent_p.A151A	NM_005561	NP_005552	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	204	Hinge.|Lumenal (Potential).					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				central_nervous_system(2)	2	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CGCCCCCTGCGCCACCCAGCC	0.637													A	113973833	G	A	113973833	2	1	55	1	0	0	0	0	0	0	0	1	8617	1074	38	1		1	LAMP1	13	113973833	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	180070	113973833	1196045	1199	42547											
OR4K15	81127	broad.mit.edu	37	chr14	20444274	20444274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtcctaataaggtagaCagttttttctgtgaccttcc	9	8	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:20444274C>T	uc010tkx.1	+	1	597	c.597C>T	c.(595-597)GAC>GAT	p.D199D		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	199	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATAAGGTAGACAGTTTTTTCT	0.423													T	20444274	C	T	20444274	2	4	55	1	0	0	0	0	0	0	0	1	11070	477	17	4		4	OR4K15	14	20444274	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08		20444274	86905266	1200	42548											
OR11G2	390439	broad.mit.edu	37	chr14	20665777	20665777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgggatcagagactccacGcccccatgtacatcctgctc	8	16	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:20665777G>A	uc010tlb.1	+	1	283	c.283G>A	c.(283-285)GCC>ACC	p.A95T		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G,	95	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GAGACTCCACGCCCCCATGTA	0.527													A	20665777	G	A	20665777	3	1	55	1	0	0	0	0	1	0	0	0	10925	1087	38	1	285	1	OR11G2	14	20665777	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	221503	20665777	86683763	1201	42549											
TTC5	91875	broad.mit.edu	37	chr14	20763608	20763608	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaggctgactgatagtgCccatcactgcaagggcctag	12	12	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:20763608C>T	uc001vwt.2	-	8	978	c.921G>A	c.(919-921)GGG>GGA	p.G307G	TTC5_uc001vwu.2_Silent_p.G164G	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	307					DNA repair	cytoplasm|nucleus	binding			ovary(1)	1	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		ACTGATAGTGCCCATCACTGC	0.567													T	20763608	C	T	20763608	2	4	55	1	0	0	0	0	0	0	0	1	16708	726	26	2		2	TTC5	14	20763608	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	97831	20763608	86585932	1202	42550											
TEP1	7011	broad.mit.edu	37	chr14	20864060	20864060	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagggcatcaatggcatcatGggcgttaagaaatctgaatg	13	6	3	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:20864060G>T	uc001vxe.2	-	11	1748	c.1708C>A	c.(1708-1710)CAT>AAT	p.H570N	TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.H462N	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	570	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ATGGCATCATGGGCGTTAAGA	0.502													T	20864060	G	T	20864060	3	4	55	1	0	0	0	0	1	0	0	0	15756	1348	47	5	6355	5	TEP1	14	20864060	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	100452	20864060	86485480	1203	42551											
OSGEP	55644	broad.mit.edu	37	chr14	20916116	20916116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccacaatgtgccatggctCgctctgtgatctctaccagc	9	14	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:20916116C>T	uc001vxf.2	-	8	1096	c.740G>A	c.(739-741)CGA>CAA	p.R247Q		NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	247					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding				0	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		TGCCATGGCTCGCTCTGTGAT	0.458													T	20916116	C	T	20916116	3	4	55	1	0	0	0	0	1	0	0	0	11287	884	31	1	283	1	OSGEP	14	20916116	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	52056	20916116	86433424	1204	42552											
PSMB11	122706	broad.mit.edu	37	chr14	23511563	23511563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttcctgcagatccatggCcccagactggcccacggcac	9	18	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:23511563C>T	uc010ake.1	+	1	188	c.129C>T	c.(127-129)GGC>GGT	p.G43G		NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN	proteasome beta 11 subunit precursor	43					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity				0	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		AGATCCATGGCCCCAGACTGG	0.647													T	23511563	C	T	23511563	2	4	55	1	0	0	0	0	0	0	0	1	12676	726	26	2		2	PSMB11	14	23511563	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2595447	23511563	83837977	1205	42553											
CDH24	64403	broad.mit.edu	37	chr14	23517514	23517515	+	In_Frame_Ins	INS	-	-	GGG													cgcgggagggccgggcgccgINSggggggccgccccgtccggg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:23517513_23517514C>CGGG	uc001wil.3	-	12	2395_2396	c.2135_2136G>CCCG	c.(2134-2136)ccg>cCCCG	p.P712P	CDH24_uc010akf.3_In_Frame_Ins_p.P674P	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	712					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		ggccgggcgccgggggggccgc	0.767													GGG	23517515	-	GGG	23517514	7	5	55	1	0	1	1	0	0	0	0	0	3109	1116	39	0	328	0	CDH24	14	23517514	In_Frame_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	5951	23517514	83832026	1206	42554											
ACIN1	22985	broad.mit.edu	37	chr14	23564354	23564354	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcgggtccgtcccgacggCttcgggcatcttcggtaatt	12	13	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:23564354C>A	uc001wit.3	-	1	470	c.142G>T	c.(142-144)GCC>TCC	p.A48S	ACIN1_uc010akg.2_Missense_Mutation_p.A48S|ACIN1_uc010tnj.1_Missense_Mutation_p.A48S|C14orf119_uc001wiu.2_5'Flank	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	48					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GTCCCGACGGCTTCGGGCATC	0.617													A	23564354	C	A	23564354	3	1	55	1	0	0	0	0	1	0	0	0	142	797	28	5	4106	5	ACIN1	14	23564354	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	46840	23564354	83785186	1207	42555											
MYH6	4624	broad.mit.edu	37	chr14	23854244	23854244	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcttctggttgatgaggcTggtgttctagacatggagag	14	6	3	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:23854244T>C	uc001wjv.2	-	35	5237	c.5170A>G	c.(5170-5172)AGC>GGC	p.S1724G		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1724	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTGATGAGGCTGGTGTTCTAG	0.458													C	23854244	T	C	23854244	3	2	55	1	0	0	0	0	1	0	0	0	10038	1580	55	3	669	3	MYH6	14	23854244	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	289890	23854244	83495296	1208	42556											
MYH6	4624	broad.mit.edu	37	chr14	23869968	23869968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcctatgaagtactggcGtggctgcttggtctccaggg	14	10	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:23869968G>A	uc001wjv.2	-	13	1427	c.1360C>T	c.(1360-1362)CGC>TGC	p.R454C	MYH6_uc010akp.1_Missense_Mutation_p.R454C	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	454	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AAGTACTGGCGTGGCTGCTTG	0.552													A	23869968	G	A	23869968	3	1	55	1	0	0	0	0	1	0	0	0	10038	1145	40	1	4567	1	MYH6	14	23869968	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	15724	23869968	83479572	1209	42557											
LRRC16B	90668	broad.mit.edu	37	chr14	24525593	24525593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctgtcccacaaccccatcGaggacaagggtgagccccag	10	16	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:24525593G>A	uc001wlj.2	+	11	1013	c.856G>A	c.(856-858)GAG>AAG	p.E286K		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	286	LRR 2.									ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		CAACCCCATCGAGGACAAGGG	0.617													A	24525593	G	A	24525593	3	1	55	1	0	0	0	0	1	0	0	0	8972	1059	37	1	898	1	LRRC16B	14	24525593	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	655625	24525593	82823947	1210	42558											
SDR39U1	56948	broad.mit.edu	37	chr14	24909407	24909407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagcatgatggcacgctgtCgcccaaagacagcttgcacc	11	14	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:24909407C>T	uc001wpm.2	-	6	796	c.764G>A	c.(763-765)CGA>CAA	p.R255Q	KHNYN_uc010tpc.1_3'UTR|KHNYN_uc001wph.3_3'UTR|KHNYN_uc010alw.2_3'UTR|SDR39U1_uc001wpi.2_Missense_Mutation_p.R147Q|SDR39U1_uc001wpj.2_Missense_Mutation_p.R173Q|SDR39U1_uc001wpk.2_Missense_Mutation_p.R147Q|SDR39U1_uc001wpl.2_Missense_Mutation_p.R200Q|SDR39U1_uc001wpn.2_Missense_Mutation_p.R130Q|uc001wpo.1_5'Flank	NM_020195	NP_064580	Q9NRG7	D39U1_HUMAN	short chain dehydrogenase/reductase family 39U,	281							binding			pancreas(1)	1						GGCACGCTGTCGCCCAAAGAC	0.617													T	24909407	C	T	24909407	3	4	55	1	0	0	0	0	1	0	0	0	13972	884	31	1	121	1	SDR39U1	14	24909407	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	383814	24909407	82440133	1211	42559											
FOXG1	2290	broad.mit.edu	37	chr14	29237213	29237213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtgcttcgtgaaggtgcCgcgccactacgacgacccgg	13	14	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:29237213C>T	uc001wqe.2	+	1	927	c.728C>T	c.(727-729)CCG>CTG	p.P243L		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	243	Fork-head.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GTGAAGGTGCCGCGCCACTAC	0.612													T	29237213	C	T	29237213	3	4	55	1	0	0	0	0	1	0	0	0	6007	652	23	1	730	1	FOXG1	14	29237213	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	4327806	29237213	78112327	1212	42560											
STRN3	29966	broad.mit.edu	37	chr14	31376175	31376175	+	Frame_Shift_Del	DEL	T	T	-													ctgaacaagacagtaattgaTtttttatgccactataagca							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:31376174_31376174AT>A	uc001wqu.2	-	13	2013	c.1797_1797AT>T	c.(1795-1797)aatfs	p.N599fs	STRN3_uc001wqv.2_Frame_Shift_Del_p.N515fs|STRN3_uc010tpj.1_Non-coding_Transcript	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA.	599					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	Golgi apparatus|cytoplasm|dendrite|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ACAGTAATTGATTTTTTATGC	0.368													-	31376175	T	-	31376175	7	5	55	1	0	1	0	1	0	0	0	0	15329	1493	52	0	617	0	STRN3	14	31376175	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	2138962	31376175	75973365	1213	42561											
ARHGAP5	394	broad.mit.edu	37	chr14	32562545	32562545	+	Frame_Shift_Del	DEL	T	T	-													gttactgacagccaagcagaTttttttgaaaatgaggctat							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:32562544_32562544AT>A	uc001wrl.3	+	1	2908	c.2669_2669AT>A	c.(2668-2670)gatfs	p.D890fs	ARHGAP5_uc001wrm.3_Frame_Shift_Del_p.D890fs|ARHGAP5_uc001wrn.3_Frame_Shift_Del_p.D890fs|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	890					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.D890V(2)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGCCAAGCAGATTTTTTTGAA	0.408													-	32562545	T	-	32562545	7	5	55	1	0	1	0	1	0	0	0	0	886	1490	52	0	2672	0	ARHGAP5	14	32562545	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	1186370	32562545	74786995	1214	42562											
AKAP6	9472	broad.mit.edu	37	chr14	33292184	33292184	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcgttcaggaagcgtcTgactcgttcagtggctgatg	13	9	3	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:33292184T>C	uc001wrq.2	+	13	5335	c.5165T>C	c.(5164-5166)CTG>CCG	p.L1722P		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1722					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGGAAGCGTCTGACTCGTTCA	0.468													C	33292184	T	C	33292184	3	2	55	1	0	0	0	0	1	0	0	0	455	1580	55	3	5211	3	AKAP6	14	33292184	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	729639	33292184	74057356	1215	42563											
CTAGE5	4253	broad.mit.edu	37	chr14	39819358	39819358	+	Frame_Shift_Del	DEL	T	T	-													accttcccccaagacctggaTttttccccccacccccacat							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:39819358delT	uc001wvg.3	+	24	2641	c.2305delT	c.(2305-2307)TTTfs	p.F769fs	CTAGE5_uc001wuz.3_Frame_Shift_Del_p.F757fs|CTAGE5_uc001wuy.3_Frame_Shift_Del_p.F689fs|CTAGE5_uc001wvb.3_Frame_Shift_Del_p.F697fs|CTAGE5_uc001wvc.3_Frame_Shift_Del_p.F671fs|CTAGE5_uc001wva.3_Frame_Shift_Del_p.F740fs|CTAGE5_uc001wvh.3_Frame_Shift_Del_p.F726fs|CTAGE5_uc001wvf.3_Frame_Shift_Del_p.F694fs|CTAGE5_uc001wvi.3_Frame_Shift_Del_p.F774fs|CTAGE5_uc010amz.2_Frame_Shift_Del_p.F385fs|CTAGE5_uc001wvj.3_Frame_Shift_Del_p.F740fs	NM_005930	NP_005921	O15320	CTGE5_HUMAN	CTAGE family, member 5 isoform 1	769	Pro-rich.						enzyme activator activity|protein binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AAGACCTGGATTTTTCCCCCC	0.453													-	39819358	T	-	39819358	7	5	55	1	0	1	0	1	0	0	0	0	3994	1493	52	0	2430	0	CTAGE5	14	39819358	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	6527174	39819358	67530182	1216	42564											
RPL10L	140801	broad.mit.edu	37	chr14	47120800	47120800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccatgtggccaccgagtGggaactcatccacttttgcc	9	14	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:47120800G>A	uc001wwg.2	-	1	229	c.140C>T	c.(139-141)CCA>CTA	p.P47L		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	47					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						GCCACCGAGTGGGAACTCATC	0.502													A	47120800	G	A	47120800	3	1	55	1	0	0	0	0	1	0	0	0	13556	1348	47	4	508	4	RPL10L	14	47120800	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	7301442	47120800	60228740	1217	42565											
SOS2	6655	broad.mit.edu	37	chr14	50585161	50585161	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcagttttggcagatgAgggcttgaattctgccttgg	16	6	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:50585161A>T	uc001wxs.3	-	23	3998	c.3900T>A	c.(3898-3900)CCT>CCA	p.P1300P	SOS2_uc010ans.2_Silent_p.P135P|SOS2_uc010tql.1_Silent_p.P1267P|C14orf138_uc001wxn.1_5'Flank|C14orf138_uc001wxo.1_5'Flank|C14orf138_uc001wxp.1_5'Flank|C14orf138_uc001wxq.1_5'Flank	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	1300					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTGGCAGATGAGGGCTTGAAT	0.507													T	50585161	A	T	50585161	2	4	55	1	0	0	0	0	0	0	0	1	14937	291	11	5		5	SOS2	14	50585161	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	3464361	50585161	56764379	1218	42566											
SAV1	60485	broad.mit.edu	37	chr14	51107479	51107479	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtacttacttcacaggggcTcgtgcgtaaacctgaagcca	10	11	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:51107479T>G	uc001wyg.1	-	5	1100	c.939A>C	c.(937-939)CGA>CGC	p.R313R	SAV1_uc001wyh.1_Silent_p.R313R	NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	WW45 protein	313					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)	1	all_epithelial(31;0.000611)|Breast(41;0.0333)					TCACAGGGGCTCGTGCGTAAA	0.463													G	51107479	T	G	51107479	2	3	55	1	0	0	0	0	0	0	0	1	13856	1538	54	5		5	SAV1	14	51107479	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	522318	51107479	56242061	1219	42567											
NIN	51199	broad.mit.edu	37	chr14	51259462	51259462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accggctgggatgtgtgaagGccgcgcttcttcatccagtg	14	11	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:51259462G>A	uc001wym.2	-	5	594	c.403C>T	c.(403-405)CCT>TCT	p.P135S	NIN_uc001wyi.2_Missense_Mutation_p.P135S|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.P135S|NIN_uc010tqp.1_Missense_Mutation_p.P141S|NIN_uc001wyo.2_Missense_Mutation_p.P135S|NIN_uc001wyp.1_Missense_Mutation_p.P97S	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	135					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					ATGTGTGAAGGCCGCGCTTCT	0.572			T	PDGFRB	MPD								A	51259462	G	A	51259462	3	1	55	1	0	0	0	0	1	0	0	0	10417	1203	42	2	6254	2	NIN	14	51259462	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	151983	51259462	56090078	1220	42568											
FRMD6	122786	broad.mit.edu	37	chr14	52186867	52186867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggccagcgggagcagtgcGggcagcatgaaacacaagcg	17	11	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:52186867G>A	uc001wzd.2	+	11	1404	c.1119G>A	c.(1117-1119)GCG>GCA	p.A373A	FRMD6_uc001wzb.2_Silent_p.A365A|FRMD6_uc001wzc.2_Silent_p.A365A|FRMD6_uc001wze.2_Silent_p.A296A|FRMD6_uc001wzf.2_Silent_p.A66A|FRMD6_uc001wzg.2_Silent_p.A15A	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	373						cytoskeleton|mitochondrion|plasma membrane	binding			ovary(1)|breast(1)|central_nervous_system(1)	3	all_epithelial(31;0.0163)|Breast(41;0.089)					GGAGCAGTGCGGGCAGCATGA	0.607													A	52186867	G	A	52186867	2	1	55	1	0	0	0	0	0	0	0	1	6054	1103	39	1		1	FRMD6	14	52186867	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	927405	52186867	55162673	1221	42569											
PTGDR	5729	broad.mit.edu	37	chr14	52735331	52735331	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggatcacctcctgctgCtggcgctgatgaccgtgctc	12	14	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:52735331C>T	uc001wzq.2	+	1	901	c.799C>T	c.(799-801)CTG>TTG	p.L267L		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	267	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CCTCCTGCTGCTGGCGCTGAT	0.687													T	52735331	C	T	52735331	2	4	55	1	0	0	0	0	0	0	0	1	12741	796	28	2		2	PTGDR	14	52735331	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	548464	52735331	54614209	1222	42570											
STYX	6815	broad.mit.edu	37	chr14	53217434	53217434	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaacatggaataacccatAtaatatgcatacgacaaaat	5	7	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:53217434A>G	uc010tqy.1	+	5	240	c.178A>G	c.(178-180)ATA>GTA	p.I60V	STYX_uc001xaa.2_Missense_Mutation_p.I60V	NM_001130701	NP_001124173	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	60					protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity				0	Breast(41;0.176)					AATAACCCATATAATATGCAT	0.289													G	53217434	A	G	53217434	3	3	55	1	0	0	0	0	1	0	0	0	15359	449	16	3	192	3	STYX	14	53217434	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	482103	53217434	54132106	1223	42571											
DDHD1	80821	broad.mit.edu	37	chr14	53619422	53619422	+	Frame_Shift_Del	DEL	C	C	-													accctcctgtcgcgccgccgCcccccgagttcgtcgggacc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:53619422delC	uc001xai.2	-	1	625	c.395delG	c.(394-396)GGCfs	p.G132fs	DDHD1_uc001xaj.2_Frame_Shift_Del_p.G132fs|DDHD1_uc001xah.2_Frame_Shift_Del_p.G132fs	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	132					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)					CGCGCCGCCGCCCCCCGAGTT	0.741													-	53619422	C	-	53619422	7	5	55	1	0	1	0	1	0	0	0	0	4326	739	26	0	2384	0	DDHD1	14	53619422	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	401988	53619422	53730118	1224	42572											
ACTR10	55860	broad.mit.edu	37	chr14	58678052	58678052	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caagtcatctaatggctcttCtgacgcttggaattaattct	7	9	5	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:58678052C>T	uc001xdf.2	+	5	488	c.385C>T	c.(385-387)CTG>TTG	p.L129L	C14orf37_uc010tro.1_Intron|ACTR10_uc001xdg.2_5'UTR|ACTR10_uc001xdh.2_5'UTR|ACTR10_uc010trp.1_5'Flank|ACTR10_uc010apc.2_5'Flank	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	uncharacterized hypothalamus protein HARP11	129						cytoplasm				central_nervous_system(1)	1						AATGGCTCTTCTGACGCTTGG	0.403													T	58678052	C	T	58678052	2	4	55	1	0	0	0	0	0	0	0	1	208	912	32	4		4	ACTR10	14	58678052	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	5058630	58678052	48671488	1225	42573											
SIX6	4990	broad.mit.edu	37	chr14	60976534	60976534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcttcaaggagcgcacgCggcacctgctacgcgagtgg	14	13	1	0	rs142958302	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:60976534C>T	uc001xfa.3	+	1	597	c.418C>T	c.(418-420)CGG>TGG	p.R140W		NM_007374	NP_031400	O95475	SIX6_HUMAN	SIX homeobox 6	140	Homeobox.				organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GGAGCGCACGCGGCACCTGCT	0.607													T	60976534	C	T	60976534	3	4	55	1	0	0	0	0	1	0	0	0	14351	759	27	1	420	1	SIX6	14	60976534	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2298482	60976534	46373006	1226	42574											
KCNH5	27133	broad.mit.edu	37	chr14	63473193	63473193	+	Splice_Site	DEL	G	G	-													aattccccatacataaaactGggggggaaaaaaaacaaaca							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:63473192_63473192TG>T	uc001xfx.3	-	3	249	c.198_splice	c.e3-1	p.S66_splice	KCNH5_uc001xfy.3_Splice_Site_p.S66_splice|KCNH5_uc001xfz.1_Splice_Site_p.S8_splice|KCNH5_uc001xga.3_Splice_Site_p.S8_splice	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	66	PAS.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TACATAAAACTGGGGGGGAAA	0.353													-	63473193	G	-	63473193	8	5	55	1	0	1	0	1	0	0	1	0	8035	1363	47	0		0	KCNH5	14	63473193	Splice_Site	DEL	G	TCGA-BR-7851-01A-11D-2201-08	2496659	63473193	43876347	1227	42575											
ZFP36L1	677	broad.mit.edu	37	chr14	69256947	69256947	+	Frame_Shift_Del	DEL	C	C	-													ggctggagttgacctggccgCccccgggctgcttctgggtg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:69256946_69256946GC>G	uc021rve.1	-	2	622	c.528_528GC>C	c.(526-528)ggcfs	p.G176fs	ZFP36L1_uc001xki.2_Frame_Shift_Del_p.G107fs|ZFP36L1_uc001xkh.2_Frame_Shift_Del_p.G107fs	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	107					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I176delI(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGACCTGGCCGCCCCCGGGCT	0.672											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	69256947	C	-	69256947	7	5	55	1	0	1	0	1	0	0	0	0	17643	739	26	0	700	0	ZFP36L1	14	69256947	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	5783754	69256947	38092593	1228	42576											
SLC8A3	6547	broad.mit.edu	37	chr14	70634521	70634521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagatactccaagcagCggtgatgaagaagactcgta	12	8	0	5			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:70634521C>T	uc001xly.2	-	2	1373	c.619G>A	c.(619-621)GCT>ACT	p.A207T	SLC8A3_uc001xlw.2_Missense_Mutation_p.A207T|SLC8A3_uc001xlx.2_Missense_Mutation_p.A207T|SLC8A3_uc001xlz.2_Missense_Mutation_p.A207T|SLC8A3_uc010ara.2_RNA	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	207	Helical; (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTCCAAGCAGCGGTGATGAAG	0.498													T	70634521	C	T	70634521	3	4	55	1	0	0	0	0	1	0	0	0	14708	768	27	1	2303	1	SLC8A3	14	70634521	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1377574	70634521	36715019	1229	42577											
PCNX	22990	broad.mit.edu	37	chr14	71576248	71576248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcctgatgaaggaatccGgttaaaagctgggagaaata	14	5	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:71576248G>A	uc001xmo.2	+	35	7270	c.6824G>A	c.(6823-6825)CGG>CAG	p.R2275Q	PCNX_uc010are.1_Missense_Mutation_p.R2164Q|PCNX_uc010arf.1_Missense_Mutation_p.R1063Q|PCNX_uc001xmp.2_Missense_Mutation_p.R359Q	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	2275						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GAAGGAATCCGGTTAAAAGCT	0.473													A	71576248	G	A	71576248	3	1	55	1	0	0	0	0	1	0	0	0	11591	1116	39	1	6962	1	PCNX	14	71576248	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	941727	71576248	35773292	1230	42578											
SIPA1L1	26037	broad.mit.edu	37	chr14	72190562	72190562	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgattggatggaaaaaaccCgaaggaaccataaactccgt	9	9	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:72190562C>T	uc001xms.2	+	16	4818	c.4470C>T	c.(4468-4470)CCC>CCT	p.P1490P	SIPA1L1_uc001xmt.2_Silent_p.P1469P|SIPA1L1_uc001xmu.2_Silent_p.P1469P|SIPA1L1_uc001xmv.2_Silent_p.P1490P|SIPA1L1_uc010ttm.1_Silent_p.P944P|SIPA1L1_uc001xmw.2_Silent_p.P255P	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1490					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGAAAAAACCCGAAGGAACCA	0.398													T	72190562	C	T	72190562	2	4	55	1	0	0	0	0	0	0	0	1	14329	639	23	1		1	SIPA1L1	14	72190562	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	614314	72190562	35158978	1231	42579											
ALDH6A1	4329	broad.mit.edu	37	chr14	74534089	74534089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgattgattacctgcatTgactctcaggtttttggcat	10	7	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:74534089T>C	uc001xpo.2	-	8	1135	c.1036A>G	c.(1036-1038)AAT>GAT	p.N346D	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010asa.2_Missense_Mutation_p.N191D|ALDH6A1_uc010tuq.1_Missense_Mutation_p.N333D	NM_005589	NP_005580	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6A1 precursor	346						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	TTACCTGCATTGACTCTCAGG	0.517													C	74534089	T	C	74534089	3	2	55	1	0	0	0	0	1	0	0	0	503	1812	63	3	591	3	ALDH6A1	14	74534089	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	2343527	74534089	32815451	1232	42580											
LTBP2	4053	broad.mit.edu	37	chr14	74973960	74973960	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtaggagccagggctgttttCacacttccaggtgccacaca	11	12	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:74973960C>T	uc001xqa.2	-	26	4216	c.3829G>A	c.(3829-3831)GAA>AAA	p.E1277K		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1277	EGF-like 14; calcium-binding (Potential).|Cys-rich.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGGCTGTTTTCACACTTCCAG	0.592													T	74973960	C	T	74973960	3	4	55	1	0	0	0	0	1	0	0	0	9074	835	29	4	1680	4	LTBP2	14	74973960	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	439871	74973960	32375580	1233	42581											
LTBP2	4053	broad.mit.edu	37	chr14	75022288	75022288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtcccgggggcagggcGttggaagagagctggctact	18	10	0	1	rs141536587		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:75022288G>A	uc001xqa.2	-	4	1326	c.939C>T	c.(937-939)AAC>AAT	p.N313N		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	313					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGGGCAGGGCGTTGGAAGAGA	0.652													A	75022288	G	A	75022288	2	1	55	1	0	0	0	0	0	0	0	1	9074	1136	40	1		1	LTBP2	14	75022288	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	48328	75022288	32327252	1234	42582											
YLPM1	56252	broad.mit.edu	37	chr14	75265533	75265533	+	Frame_Shift_Del	DEL	A	A	-													agaaccaggagatggtggggAaaaaatgtatccatatcacc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:75265532_75265532GA>G	uc001xqj.4	+	4	3656	c.3532_3532GA>G	c.(3532-3534)gaafs	p.E1178fs	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	983	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGATGGTGGGGAAAAAATGTA	0.517													-	75265533	A	-	75265533	7	5	55	1	0	1	0	1	0	0	0	0	17483	246	9	0	3551	0	YLPM1	14	75265533	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	243245	75265533	32084007	1235	42583											
PGF	5228	broad.mit.edu	37	chr14	75415222	75415222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacctaccggcattcgcagCgaacgtgctgagagaacgtc	12	12	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:75415222C>T	uc010ase.1	-	4	726	c.380G>A	c.(379-381)CGC>CAC	p.R127H	PGF_uc001xqz.2_Missense_Mutation_p.R127H|PGF_uc001xra.2_Missense_Mutation_p.R126H|PGF_uc001xrb.2_Missense_Mutation_p.R127H|PGF_uc010asf.1_3'UTR	NM_002632	NP_002623	P49763	PLGF_HUMAN	placental growth factor, vascular endothelial	127					angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00668)		GCATTCGCAGCGAACGTGCTG	0.602													T	75415222	C	T	75415222	3	4	55	1	0	0	0	0	1	0	0	0	11788	768	27	1	148	1	PGF	14	75415222	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	149689	75415222	31934318	1236	42584											
EIF2B2	8892	broad.mit.edu	37	chr14	75470355	75470355	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcttccattatgcccaacTccagtccaacatcattgagg	6	14	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:75470355T>G	uc001xrc.1	+	3	468	c.386T>G	c.(385-387)CTC>CGC	p.L129R		NM_014239	NP_055054	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B,	129					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TATGCCCAACTCCAGTCCAAC	0.527													G	75470355	T	G	75470355	3	3	55	1	0	0	0	0	1	0	0	0	5001	1551	54	5	396	5	EIF2B2	14	75470355	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	55133	75470355	31879185	1237	42585											
AHSA1	10598	broad.mit.edu	37	chr14	77935581	77935581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacctttggctatggcgcaCgcttattttagggccagcgg	13	10	0	1	rs147994825	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:77935581C>T	uc001xtw.2	+	9	1166	c.1006C>T	c.(1006-1008)CGC>TGC	p.R336C		NM_012111	NP_036243	O95433	AHSA1_HUMAN	activator of heat shock 90kDa protein ATPase	336					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CTATGGCGCACGCTTATTTTA	0.597													T	77935581	C	T	77935581	3	4	55	1	0	0	0	0	1	0	0	0	418	536	19	1	1040	1	AHSA1	14	77935581	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2465226	77935581	29413959	1238	42586											
C14orf145	145508	broad.mit.edu	37	chr14	81259426	81259426	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatctgcagttgctgttttTccccattctccagttcacgt	6	13	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:81259426T>C	uc001xux.2	-	13	1409	c.1238A>G	c.(1237-1239)GAA>GGA	p.E413G	C14orf145_uc010asz.1_RNA	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	413	Potential.					centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		TTGCTGTTTTTCCCCATTCTC	0.413													C	81259426	T	C	81259426	3	2	55	1	0	0	0	0	1	0	0	0	1749	1783	62	3	2094	3	C14orf145	14	81259426	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	3323845	81259426	26090114	1239	42587											
SEL1L	6400	broad.mit.edu	37	chr14	81993096	81993096	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggtttccgtactttcttTggctcttcatagtccttgtt	7	11	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:81993096T>G	uc010tvv.1	-	3	438	c.321A>C	c.(319-321)CCA>CCC	p.P107P	SEL1L_uc001xvo.3_Silent_p.P107P	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	107	Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GTACTTTCTTTGGCTCTTCAT	0.403													G	81993096	T	G	81993096	2	3	55	1	0	0	0	0	0	0	0	1	14010	1799	63	5		5	SEL1L	14	81993096	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	733670	81993096	25356444	1240	42588											
ZC3H14	79882	broad.mit.edu	37	chr14	89039116	89039116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttacatatggttcttctcGcccttctattgaaatttatc	4	10	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:89039116G>A	uc001xww.2	+	6	851	c.626G>A	c.(625-627)CGC>CAC	p.R209H	ZC3H14_uc010twd.1_Missense_Mutation_p.R209H|ZC3H14_uc010twe.1_Missense_Mutation_p.R209H|ZC3H14_uc001xwx.2_Missense_Mutation_p.R209H|ZC3H14_uc010twf.1_Missense_Mutation_p.R54H|ZC3H14_uc001xwy.2_Missense_Mutation_p.R175H|ZC3H14_uc010twg.1_Missense_Mutation_p.R54H	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14 isoform 1	209						cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			ovary(2)|skin(1)	3						GGTTCTTCTCGCCCTTCTATT	0.398													A	89039116	G	A	89039116	3	1	55	1	0	0	0	0	1	0	0	0	17563	1087	38	1	648	1	ZC3H14	14	89039116	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	7046020	89039116	18310424	1241	42589											
FOXN3	1112	broad.mit.edu	37	chr14	89878534	89878534	+	Frame_Shift_Del	DEL	G	G	-													tgtcagagtgggcaggggatGggggggtgtcatcgtccagg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:89878533_89878533TG>T	uc001xxo.4	-	1	425	c.288_288CA>A	c.(286-288)ccafs	p.P96fs	FOXN3_uc001xxn.4_Frame_Shift_Del_p.P96fs|FOXN3_uc010atk.3_Frame_Shift_Del_p.P96fs|FOXN3_uc001xxp.2_Frame_Shift_Del_p.P96fs	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	96					DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P96fs*42(2)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGCAGGGGATGGGGGGGTGT	0.587													-	89878534	G	-	89878534	7	5	55	1	0	1	0	1	0	0	0	0	6021	1348	47	0	1209	0	FOXN3	14	89878534	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	839418	89878534	17471006	1242	42590											
PSMC1	5700	broad.mit.edu	37	chr14	90738656	90738656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgatggccttaagagaaCgtagaatgaaagtaacaaat	10	5	1	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:90738656C>T	uc001xyf.2	+	11	1276	c.1228C>T	c.(1228-1230)CGT>TGT	p.R410C	PSMC1_uc001xyg.2_Missense_Mutation_p.R337C|PSMC1_uc001xyh.2_Missense_Mutation_p.R337C	NM_002802	NP_002793	P62191	PRS4_HUMAN	proteasome 26S ATPase subunit 1	410					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		CTTAAGAGAACGTAGAATGAA	0.363													T	90738656	C	T	90738656	3	4	55	1	0	0	0	0	1	0	0	0	12685	536	19	1	1270	1	PSMC1	14	90738656	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	860122	90738656	16610884	1243	42591											
C14orf102	55051	broad.mit.edu	37	chr14	90744727	90744727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcggcaggcgcacccGgagctccttctcagtcatca	10	17	3	0	rs78302825		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:90744727G>A	uc001xyi.1	-	14	3479	c.3448C>T	c.(3448-3450)CGG>TGG	p.R1150W	C14orf102_uc010atp.1_Missense_Mutation_p.R655W|C14orf102_uc001xyj.1_Missense_Mutation_p.R919W	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	1150							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		AGGCGCACCCGGAGCTCCTTC	0.637													A	90744727	G	A	90744727	3	1	55	1	0	0	0	0	1	0	0	0	1735	1115	39	1	50	1	C14orf102	14	90744727	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	6071	90744727	16604813	1244	42592											
C14orf102	55051	broad.mit.edu	37	chr14	90783061	90783061	+	Frame_Shift_Del	DEL	T	T	-													cttatgatgctgatgcttccTttttttctttttctctttct							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:90783060_90783060CT>C	uc001xyi.2	-	2	502	c.269_269AG>G	c.(268-270)aggfs	p.R90fs	C14orf102_uc001xyj.2_Intron	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	90	Lys-rich.|Poly-Lys.						protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		ctgatgcttcctttttttctt	0.398													-	90783061	T	-	90783061	7	5	55	1	0	1	0	1	0	0	0	0	1735	1608	56	0	3274	0	C14orf102	14	90783061	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	38334	90783061	16566479	1245	42593											
RIN3	79890	broad.mit.edu	37	chr14	93043773	93043773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccactttccttctctgaaCgaaagctcggccgaggtgct	10	13	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:93043773C>T	uc001yap.2	+	3	470	c.318C>T	c.(316-318)AAC>AAT	p.N106N	RIN3_uc010auk.2_Translation_Start_Site|RIN3_uc001yaq.2_Silent_p.N31N	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	106	SH2.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				CTTCTCTGAACGAAAGCTCGG	0.527													T	93043773	C	T	93043773	2	4	55	1	0	0	0	0	0	0	0	1	13373	535	19	1		1	RIN3	14	93043773	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2260712	93043773	14305767	1246	42594											
KIAA1409	57578	broad.mit.edu	37	chr14	94120340	94120340	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatggacttcaatgagctgaGctccatcgcagctctcagtc	10	12	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:94120340G>T	uc001ybv.1	+	36	5986	c.5903G>T	c.(5902-5904)AGC>ATC	p.S1968I	KIAA1409_uc001ybs.1_Missense_Mutation_p.S1946I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2123						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		AATGAGCTGAGCTCCATCGCA	0.517													T	94120340	G	T	94120340	3	4	55	1	0	0	0	0	1	0	0	0	8230	971	34	5	5975	5	KIAA1409	14	94120340	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1076567	94120340	13229200	1247	42595											
SERPINA5	5104	broad.mit.edu	37	chr14	95056470	95056470	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggtacccatgatgagcCgcgaggatcagtatcactac	12	11	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:95056470C>A	uc001ydm.2	+	4	922	c.712C>A	c.(712-714)CGC>AGC	p.R238S	SERPINA5_uc010ave.2_Missense_Mutation_p.R238S|SERPINA3_uc001ydo.3_5'Flank	NM_000624	NP_000615	P05154	IPSP_HUMAN	serine (or cysteine) proteinase inhibitor, clade	238					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(2)	2				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CATGATGAGCCGCGAGGATCA	0.562													A	95056470	C	A	95056470	3	1	55	1	0	0	0	0	1	0	0	0	14092	652	23	5	718	5	SERPINA5	14	95056470	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	936130	95056470	12293070	1248	42596											
SERPINA3	12	broad.mit.edu	37	chr14	95081256	95081256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacggaggatgccaagaggCtgtatggctccgaggccttt	14	10	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:95081256C>T	uc001ydp.2	+	2	557	c.478C>T	c.(478-480)CTG>TTG	p.L160L	SERPINA3_uc001ydo.3_Silent_p.L185L|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Silent_p.L160L|SERPINA3_uc001yds.2_Silent_p.L160L|SERPINA3_uc010avg.2_Silent_p.L160L	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	160					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TGCCAAGAGGCTGTATGGCTC	0.512													T	95081256	C	T	95081256	2	4	55	1	0	0	0	0	0	0	0	1	14090	796	28	2		2	SERPINA3	14	95081256	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	24786	95081256	12268284	1249	42597											
BDKRB2	624	broad.mit.edu	37	chr14	96706825	96706825	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccccaagtggagtggctgGgctggctcaacaccatccag	13	14	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:96706825G>T	uc010avm.1	+	3	356	c.160G>T	c.(160-162)GGC>TGC	p.G54C	BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.G27C|BDKRB2_uc001yfg.2_Missense_Mutation_p.G54C	NM_000623	NP_000614	P30411	BKRB2_HUMAN	bradykinin receptor B2	54	Extracellular (Potential).				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			ovary(3)|breast(1)|kidney(1)	5		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		GGAGTGGCTGGGCTGGCTCAA	0.577													T	96706825	G	T	96706825	3	4	55	1	0	0	0	0	1	0	0	0	1393	1232	43	5	166	5	BDKRB2	14	96706825	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1625569	96706825	10642715	1250	42598											
BDKRB2	624	broad.mit.edu	37	chr14	96706965	96706965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctacctggggaacctggcCgcagcagacctgatcctggc	12	14	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:96706965C>T	uc010avm.1	+	3	496	c.300C>T	c.(298-300)GCC>GCT	p.A100A	BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Silent_p.A73A|BDKRB2_uc001yfg.2_Silent_p.A100A	NM_000623	NP_000614	P30411	BKRB2_HUMAN	bradykinin receptor B2	100	Helical; Name=2; (Potential).				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			ovary(3)|breast(1)|kidney(1)	5		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		GGAACCTGGCCGCAGCAGACC	0.607													T	96706965	C	T	96706965	2	4	55	1	0	0	0	0	0	0	0	1	1393	639	23	1		1	BDKRB2	14	96706965	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	140	96706965	10642575	1251	42599											
CYP46A1	10858	broad.mit.edu	37	chr14	100182183	100182183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcagctccgggaggtcCgggagagcattcgcttcctg	16	11	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:100182183C>T	uc001ygo.2	+	8	730	c.730C>T	c.(730-732)CGG>TGG	p.R244W	CYP46A1_uc001ygp.2_Missense_Mutation_p.R91W	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46	244					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity				0		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CCGGGAGGTCCGGGAGAGCAT	0.637													T	100182183	C	T	100182183	3	4	55	1	0	0	0	0	1	0	0	0	4182	643	23	1	760	1	CYP46A1	14	100182183	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3475218	100182183	7167357	1252	42600											
EVL	51466	broad.mit.edu	37	chr14	100594927	100594928	+	Frame_Shift_Ins	INS	-	-	C													atgtagtgggcctccaccgcINScccccccacccccagtccca					rs150744633		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:100594926_100594927G>GC	uc001ygu.3	+	5	645_646	c.558_559G>GC	c.(556-561)ccgcccfs	p.P186fs	EVL_uc001ygt.3_Frame_Shift_Ins_p.P184fs|EVL_uc001ygv.2_Frame_Shift_Ins_p.P190fs	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Homo sapiens Enah/Vasp-like (EVL), mRNA.	184	Pro-rich.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	SH3 domain binding|actin binding|profilin binding	p.P189fs*41(1)		cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GGcctccaccgccccccccacc	0.688													C	100594928	-	C	100594927	7	5	55	1	0	1	1	0	0	0	0	0	5291	739	26	0	581	0	EVL	14	100594927	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	412744	100594927	6754613	1253	42601											
PPP2R5C	5527	broad.mit.edu	37	chr14	102368058	102368058	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcatttcttttgtaggtGgtgatggcacttctcaaata	10	6	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:102368058G>T	uc001yko.2	+	9	995	c.855G>T	c.(853-855)GTG>GTT	p.V285V	PPP2R5C_uc010txr.1_Silent_p.V316V|PPP2R5C_uc001ykk.2_Silent_p.V340V|PPP2R5C_uc010txt.1_Silent_p.V275V|PPP2R5C_uc001ykn.2_Silent_p.V285V|PPP2R5C_uc001ykp.2_Silent_p.V285V|PPP2R5C_uc001ykq.2_Silent_p.V183V	NM_002719	NP_002710	Q13362	2A5G_HUMAN	gamma isoform of regulatory subunit B56, protein	285					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity			ovary(1)|breast(1)	2						TTTTGTAGGTGGTGATGGCAC	0.453													T	102368058	G	T	102368058	2	4	55	1	0	0	0	0	0	0	0	1	12394	1335	47	5		5	PPP2R5C	14	102368058	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1773131	102368058	4981482	1254	42602											
DYNC1H1	1778	broad.mit.edu	37	chr14	102452268	102452268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggatcaccgctcgccttcGggatcagcttggcacagcca	11	16	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:102452268G>A	uc001yks.2	+	8	1870	c.1706G>A	c.(1705-1707)CGG>CAG	p.R569Q		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	569	Interaction with DYNC1I2 (By similarity).|Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						GCTCGCCTTCGGGATCAGCTT	0.547													A	102452268	G	A	102452268	3	1	55	1	0	0	0	0	1	0	0	0	4841	1116	39	1	1736	1	DYNC1H1	14	102452268	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	84210	102452268	4897272	1255	42603											
WDR20	91833	broad.mit.edu	37	chr14	102675164	102675164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttaagtggacggtgggCgagggggccctcaacgagtt	16	10	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:102675164C>T	uc001ykz.2	+	3	706	c.657C>T	c.(655-657)GGC>GGT	p.G219G	WDR20_uc001yky.1_Intron|WDR20_uc001yla.2_Silent_p.G95G|WDR20_uc001ylb.2_Silent_p.G158G|WDR20_uc010txu.1_Silent_p.G250G|WDR20_uc001ylc.2_Intron|WDR20_uc001yld.2_Silent_p.G219G|WDR20_uc001yle.2_Silent_p.G158G|WDR20_uc001ylf.2_Silent_p.G231G	NM_144574	NP_653175	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20 isoform 2	219	WD 2.										0						GGACGGTGGGCGAGGGGGCCC	0.577													T	102675164	C	T	102675164	2	4	55	1	0	0	0	0	0	0	0	1	17277	755	27	1		1	WDR20	14	102675164	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	222896	102675164	4674376	1256	42604											
TECPR2	9895	broad.mit.edu	37	chr14	102915976	102915976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttccaggtgagcatcaCggactatgtggtgtttgacc	11	11	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:102915976C>T	uc001ylw.1	+	14	3234	c.3086C>T	c.(3085-3087)ACG>ATG	p.T1029M	TECPR2_uc010awl.2_Missense_Mutation_p.T1029M|TECPR2_uc010txx.1_Missense_Mutation_p.T192M	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1029							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						GTGAGCATCACGGACTATGTG	0.532													T	102915976	C	T	102915976	3	4	55	1	0	0	0	0	1	0	0	0	15741	536	19	1	3136	1	TECPR2	14	102915976	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	240812	102915976	4433564	1257	42605											
CDC42BPB	9578	broad.mit.edu	37	chr14	103404710	103404710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagccaggttggtgggagcGgggcccggcctttcctcctg	17	13	0	0	rs137905470		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:103404710G>A	uc001ymi.1	-	35	5098	c.4866C>T	c.(4864-4866)CCC>CCT	p.P1622P		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	1622					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGGTGGGAGCGGGGCCCGGCC	0.667													A	103404710	G	A	103404710	2	1	55	1	0	0	0	0	0	0	0	1	3073	1103	39	1		1	CDC42BPB	14	103404710	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	488734	103404710	3944830	1258	42606											
CDC42BPB	9578	broad.mit.edu	37	chr14	103410756	103410756	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttccggccacagaggaggaTtacgatcttctccctgggag	13	11	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:103410756T>C	uc001ymi.1	-	30	4112	c.3880A>G	c.(3880-3882)ATC>GTC	p.I1294V	CDC42BPB_uc001ymj.1_Missense_Mutation_p.I396V	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	1294	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CAGAGGAGGATTACGATCTTC	0.567													C	103410756	T	C	103410756	3	2	55	1	0	0	0	0	1	0	0	0	3073	1493	52	3	1287	3	CDC42BPB	14	103410756	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	6046	103410756	3938784	1259	42607											
C14orf73	91828	broad.mit.edu	37	chr14	103566851	103566851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacggcccagctaccggcCattcccaggccactcctgag	10	17	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:103566851C>T	uc001ymk.2	+	1	371	c.295C>T	c.(295-297)CAT>TAT	p.H99Y		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	hypothetical protein LOC91828	99											0		Melanoma(154;0.155)	Epithelial(46;0.221)			AGCTACCGGCCATTCCCAGGC	0.642													T	103566851	C	T	103566851	3	4	55	1	0	0	0	0	1	0	0	0	1779	594	21	4	297	4	C14orf73	14	103566851	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	156095	103566851	3782689	1260	42608											
KLC1	3831	broad.mit.edu	37	chr14	104139470	104139470	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagagccctcgagatctaCcagacaaaactgggacctga	9	12	1	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:104139470C>T	uc001yno.2	+	8	1415	c.1107C>T	c.(1105-1107)TAC>TAT	p.Y369Y	KLC1_uc010tyd.1_Silent_p.Y528Y|KLC1_uc010tye.1_Silent_p.Y365Y|KLC1_uc001ynm.1_Silent_p.Y369Y|KLC1_uc001ynn.1_Silent_p.Y363Y|KLC1_uc010tyf.1_Silent_p.Y369Y|KLC1_uc001ynp.1_5'Flank|KLC1_uc001ynr.1_5'Flank|KLC1_uc010awu.1_5'Flank|KLC1_uc001ynq.1_5'Flank|KLC1_uc001yns.2_5'Flank	NM_182923	NP_891553	Q07866	KLC1_HUMAN	kinesin light chain 1 isoform 2	369	TPR 4.				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0		Melanoma(154;0.155)|all_epithelial(191;0.19)				TCGAGATCTACCAGACAAAAC	0.483													T	104139470	C	T	104139470	2	4	55	1	0	0	0	0	0	0	0	1	8333	518	18	4		4	KLC1	14	104139470	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	572619	104139470	3210070	1261	42609											
ZFYVE21	79038	broad.mit.edu	37	chr14	104194188	104194188	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcggcagtgcgcggagTgcgccctcgtgtccctcaag	15	15	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:104194188T>C	uc001yoc.2	+	3	329	c.295T>C	c.(295-297)TGC>CGC	p.C99R	ZFYVE21_uc001yod.2_Missense_Mutation_p.C99R	NM_024071	NP_076976	Q9BQ24	ZFY21_HUMAN	zinc finger, FYVE domain containing 21	99	FYVE-type.					cytoplasmic membrane-bounded vesicle|focal adhesion	metal ion binding				0		Melanoma(154;0.226)		Epithelial(152;0.245)		GTGCGCGGAGTGCGCCCTCGT	0.667													C	104194188	T	C	104194188	3	2	55	1	0	0	0	0	1	0	0	0	17664	1696	59	3	305	3	ZFYVE21	14	104194188	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	54718	104194188	3155352	1262	42610											
AHNAK2	113146	broad.mit.edu	37	chr14	105413904	105413904	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaggtccccctccagccgCgcaccatccagctttgctct	8	19	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:105413904C>T	uc010axc.1	-	7	8004	c.7884G>A	c.(7882-7884)GCG>GCA	p.A2628A	AHNAK2_uc001ypx.2_Silent_p.A2528A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2628						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)			CCTCCAGCCGCGCACCATCCA	0.592													T	105413904	C	T	105413904	2	4	55	1	0	0	0	0	0	0	0	1	415	755	27	1		1	AHNAK2	14	105413904	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1219716	105413904	1935636	1263	42611											
AHNAK2	113146	broad.mit.edu	37	chr14	105415580	105415580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctccaccttgggcaggtGccctttgaggccagctccct	10	16	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:105415580G>A	uc010axc.1	-	7	6328	c.6208C>T	c.(6208-6210)CAC>TAC	p.H2070Y	AHNAK2_uc001ypx.2_Missense_Mutation_p.H1970Y	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2070						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)			TTGGGCAGGTGCCCTTTGAGG	0.622													A	105415580	G	A	105415580	3	1	55	1	0	0	0	0	1	0	0	0	415	1319	46	2	11183	2	AHNAK2	14	105415580	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1676	105415580	1933960	1264	42612											
AHNAK2	113146	broad.mit.edu	37	chr14	105416463	105416463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtcgggggccatcacctcCgccttggggcctttcaggtc	13	15	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:105416463C>T	uc010axc.1	-	7	5445	c.5325G>A	c.(5323-5325)GCG>GCA	p.A1775A	AHNAK2_uc001ypx.2_Silent_p.A1675A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1775						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)			CCATCACCTCCGCCTTGGGGC	0.652													T	105416463	C	T	105416463	2	4	55	1	0	0	0	0	0	0	0	1	415	639	23	1		1	AHNAK2	14	105416463	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	883	105416463	1933077	1265	42613											
AHNAK2	113146	broad.mit.edu	37	chr14	105417304	105417304	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acggcatcttgaacttgggcAttttgaacttgctgtctttg	10	8	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:105417304A>G	uc010axc.1	-	7	4604	c.4484T>C	c.(4483-4485)ATG>ACG	p.M1495T	AHNAK2_uc001ypx.2_Missense_Mutation_p.M1395T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1495						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)			GAACTTGGGCATTTTGAACTT	0.602													G	105417304	A	G	105417304	3	3	55	1	0	0	0	0	1	0	0	0	415	217	8	3	12907	3	AHNAK2	14	105417304	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	841	105417304	1932236	1266	42614											
C14orf79	122616	broad.mit.edu	37	chr14	105452904	105452906	+	In_Frame_Del	DEL	CTC	CTC	-													gacggacctgccccgaccttCtcctgtccgatgggaaagcc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:105452903_105452905TCTC>T	uc001ypy.1	+	0	288_290	c.135_137TCTC>T	c.(133-138)cttctc>ctTc	p.45_46LL>L	C14orf79_uc010tym.1_Non-coding_Transcript|C14orf79_uc001ypz.1_Non-coding_Transcript	NM_174891	NP_777551	Q96F83	CN079_HUMAN	Homo sapiens chromosome 14 open reading frame 79 (C14orf79), mRNA.	45										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			GCCCCGACCTTCTCCTGTCCGAT	0.626													-	105452906	CTC	-	105452904	7	5	55	1	0	1	0	1	0	0	0	0	1780	913	32	0	138	0	C14orf79	14	105452904	In_Frame_Del	DEL	CTC	TCGA-BR-7851-01A-11D-2201-08	35600	105452904	1896636	1267	42615											
OR4M2	390538	broad.mit.edu	37	chr15	22369288	22369288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgagaataccaacagggCcatgtccacctgctattccc	9	13	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:22369288C>T	uc010tzu.1	+	1	713	c.713C>T	c.(712-714)GCC>GTC	p.A238V	LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	238	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ACCAACAGGGCCATGTCCACC	0.453													T	22369288	C	T	22369288	3	4	55	1	0	0	0	0	1	0	0	0	11076	739	26	2	715	2	OR4M2	15	22369288	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08		22369288	80162104	1268	42616											
TUBGCP5	114791	broad.mit.edu	37	chr15	22851104	22851104	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttggagaagcctctgagCaaaccgtaagtgagacttct	11	8	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:22851104C>T	uc001yur.3	+	11	1496	c.1366C>T	c.(1366-1368)CAA>TAA	p.Q456*	TUBGCP5_uc001yuq.2_Nonsense_Mutation_p.Q456*|TUBGCP5_uc010axz.1_Silent_p.S27S	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	456					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			skin(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AGCCTCTGAGCAAACCGTAAG	0.468													T	22851104	C	T	22851104	4	4	55	1	0	0	0	0	0	1	0	0	16766	711	25	2	1408	2	TUBGCP5	15	22851104	Nonsense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	481816	22851104	79680288	1269	42617											
CYFIP1	23191	broad.mit.edu	37	chr15	22928162	22928162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagggccaagaatatgctGtcatgctgtacacctggagg	14	8	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:22928162G>A	uc001yus.2	+	4	345	c.241G>A	c.(241-243)GTC>ATC	p.V81I	CYFIP1_uc001yut.2_Missense_Mutation_p.V81I|CYFIP1_uc010aya.1_Missense_Mutation_p.V109I	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	81					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGAATATGCTGTCATGCTGTA	0.607													A	22928162	G	A	22928162	3	1	55	1	0	0	0	0	1	0	0	0	4137	1377	48	4	251	4	CYFIP1	15	22928162	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	77058	22928162	79603230	1270	42618											
OCA2	4948	broad.mit.edu	37	chr15	28326974	28326974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtctgcaggagctccaccGccggcgcgccggggtaccgc	15	17	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:28326974G>A	uc001zbh.3	-	2	157	c.47C>T	c.(46-48)GCG>GTG	p.A16V	OCA2_uc010ayv.2_Missense_Mutation_p.A16V	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	16	Cytoplasmic (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GAGCTCCACCGCCGGCGCGCC	0.662									Oculocutaneous_Albinism				A	28326974	G	A	28326974	3	1	55	1	0	0	0	0	1	0	0	0	10815	1087	38	1	2561	1	OCA2	15	28326974	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5398812	28326974	74204418	1271	42619											
NDNL2	56160	broad.mit.edu	37	chr15	29561064	29561064	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatctgccaaagcctcacaGtactgcgctggccagtcctt	8	15	3	0	rs145182709		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:29561064G>T	uc001zco.2	-	1	954	c.846C>A	c.(844-846)TAC>TAA	p.Y282*	FAM189A1_uc010azk.1_Intron	NM_138704	NP_619649	Q96MG7	MAGG1_HUMAN	necdin-like 2	282	MAGE.				regulation of growth	cytoplasm|nucleus					0		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AAGCCTCACAGTACTGCGCTG	0.562													T	29561064	G	T	29561064	4	4	55	1	0	0	0	0	0	1	0	0	10248	1024	36	5	72	5	NDNL2	15	29561064	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1234090	29561064	72970328	1272	42620											
TJP1	7082	broad.mit.edu	37	chr15	30029534	30029534	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatcttctagaacgccagcTacaaatattccaacatcatt	3	12	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:30029534T>C	uc001zcr.2	-	11	1816	c.1341A>G	c.(1339-1341)GTA>GTG	p.V447V	TJP1_uc010azl.2_Silent_p.V435V|TJP1_uc001zcq.2_Silent_p.V451V|TJP1_uc001zcs.2_Silent_p.V447V	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	447	PDZ 3.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GAACGCCAGCTACAAATATTC	0.423													C	30029534	T	C	30029534	2	2	55	1	0	0	0	0	0	0	0	1	15926	1509	53	3		3	TJP1	15	30029534	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	468470	30029534	72501858	1273	42621											
TRPM1	4308	broad.mit.edu	37	chr15	31332552	31332552	+	Splice_Site	DEL	G	G	-													gcaagctggccgaagtctctGgggggaaagagaagggacca							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:31332551_31332551TG>T	uc021sia.1	-	17	2453	c.2139_splice	c.e17-1	p.K713_splice	TRPM1_uc010azy.3_Splice_Site_p.K581_splice|TRPM1_uc001zfl.3_Splice_Site|TRPM1_uc021shz.1_Splice_Site_p.K696_splice|TRPM1_uc001zfm.3_Splice_Site_p.K674_splice	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	674					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCGAAGTCTCTGGGGGGAAAG	0.517													-	31332552	G	-	31332552	8	5	55	1	0	1	0	1	0	0	1	0	16582	1363	47	0		0	TRPM1	15	31332552	Splice_Site	DEL	G	TCGA-BR-7851-01A-11D-2201-08	1303018	31332552	71198840	1274	42622											
ARHGAP11A	9824	broad.mit.edu	37	chr15	32929210	32929210	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaatgagaatatgatggaaGgtaacttaccgaagtgtgca	12	4	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:32929210G>T	uc001zgy.1	+	12	2958	c.2236G>T	c.(2236-2238)GGT>TGT	p.G746C	ARHGAP11A_uc010ubw.1_Missense_Mutation_p.G557C|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.G557C	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A isoform 1	746					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			skin(3)|breast(2)|urinary_tract(1)	6		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TATGATGGAAGGTAACTTACC	0.388													T	32929210	G	T	32929210	3	4	55	1	0	0	0	0	1	0	0	0	863	1000	35	5	2305	5	ARHGAP11A	15	32929210	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1596658	32929210	69602182	1275	42623											
SLC12A6	9990	broad.mit.edu	37	chr15	34532875	34532875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttacctgctcagcagctAaagcttcaccgtagttctct	6	14	4	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:34532875A>G	uc001zhw.2	-	18	2587	c.2423T>C	c.(2422-2424)TTA>TCA	p.L808S	SLC12A6_uc001zhv.2_Missense_Mutation_p.L757S|SLC12A6_uc001zhx.2_Missense_Mutation_p.L793S|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.L749S|SLC12A6_uc001zib.2_Missense_Mutation_p.L799S|SLC12A6_uc001zic.2_Missense_Mutation_p.L808S|SLC12A6_uc010bau.2_Missense_Mutation_p.L808S|SLC12A6_uc001zid.2_Missense_Mutation_p.L749S|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.L620S	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	808					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTCAGCAGCTAAAGCTTCACC	0.458													G	34532875	A	G	34532875	3	3	55	1	0	0	0	0	1	0	0	0	14387	372	13	3	1061	3	SLC12A6	15	34532875	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1603665	34532875	67998517	1276	42624											
LPCAT4	254531	broad.mit.edu	37	chr15	34652412	34652412	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaaacccttggtatccTggtgtgaaaaagaaaccagg	9	11	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:34652412T>C	uc001zig.2	-	12	1238	c.1144_splice	c.e12-1	p.D382_splice		NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4						phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding				0						CTTGGTATCCTGGTGTGAAAA	0.552													C	34652412	T	C	34652412	5	2	55	1	0	0	0	0	0	0	1	0	8913	1594	55	3	444	3	LPCAT4	15	34652412	Splice_Site	SNP	T	TCGA-BR-7851-01A-11D-2201-08	119537	34652412	67878980	1277	42625											
MEIS2	4212	broad.mit.edu	37	chr15	37390290	37390290	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcgtggagcggcggcccGtggttcaggtggtgaaccgg	21	9	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:37390290G>A	uc001zjr.2	-	2	1160	c.123C>T	c.(121-123)CAC>CAT	p.H41H	MEIS2_uc001zjl.2_Silent_p.H28H|MEIS2_uc010ucj.1_Silent_p.H28H|MEIS2_uc001zjm.2_Translation_Start_Site|MEIS2_uc001zjn.2_Translation_Start_Site|MEIS2_uc001zjo.2_Silent_p.H41H|MEIS2_uc001zjp.2_Silent_p.H41H|MEIS2_uc001zjs.2_Silent_p.H41H|MEIS2_uc001zju.2_Silent_p.H28H|MEIS2_uc001zjt.2_Silent_p.H41H	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	41					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)	2		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GCGGCGGCCCGTGGTTCAGGT	0.682													A	37390290	G	A	37390290	2	1	55	1	0	0	0	0	0	0	0	1	9468	1136	40	1		1	MEIS2	15	37390290	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2737878	37390290	65141102	1278	42626											
BUB1B	701	broad.mit.edu	37	chr15	40512803	40512803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaataaattctttgtgcGgattctgaatgccaatgatg	11	5	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:40512803G>A	uc001zkx.3	+	23	3208	c.2996G>A	c.(2995-2997)CGG>CAG	p.R999Q	PAK6_uc010bbl.2_Intron|PAK6_uc010bbm.2_Intron	NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	999	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|kidney(1)	4		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTCTTTGTGCGGATTCTGAAT	0.368			Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome				A	40512803	G	A	40512803	3	1	55	1	0	0	0	0	1	0	0	0	1571	1116	39	1	3086	1	BUB1B	15	40512803	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3122513	40512803	62018589	1279	42627											
DISP2	85455	broad.mit.edu	37	chr15	40661464	40661464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaccctgaccgcctgagcCgtgtggccttctctctgcgc	10	18	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:40661464C>T	uc001zlk.1	+	8	3240	c.3151C>T	c.(3151-3153)CGT>TGT	p.R1051C		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	1051					smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCGCCTGAGCCGTGTGGCCTT	0.632													T	40661464	C	T	40661464	3	4	55	1	0	0	0	0	1	0	0	0	4540	652	23	1	3181	1	DISP2	15	40661464	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	148661	40661464	61869928	1280	42628											
CASC5	57082	broad.mit.edu	37	chr15	40954324	40954324	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccactggagaacaactacCtgaagaatgtagtcaagcaa	9	9	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:40954324C>A	uc010bbs.1	+	27	7128	c.6967C>A	c.(6967-6969)CTG>ATG	p.L2323M	CASC5_uc010bbt.1_Missense_Mutation_p.L2297M	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	2323					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GAACAACTACCTGAAGAATGT	0.358													A	40954324	C	A	40954324	3	1	55	1	0	0	0	0	1	0	0	0	2663	680	24	5	7069	5	CASC5	15	40954324	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	292860	40954324	61577068	1281	42629											
RHOV	171177	broad.mit.edu	37	chr15	41165405	41165405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagttcttctgcgtcaaggCtgagcactcaaggtagcagc	11	11	4	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:41165405C>T	uc001znd.2	-	3	712	c.562G>A	c.(562-564)GCC>ACC	p.A188T		NM_133639	NP_598378	Q96L33	RHOV_HUMAN	ras homolog gene family, member V	188					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding				0		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TGCGTCAAGGCTGAGCACTCA	0.577													T	41165405	C	T	41165405	3	4	55	1	0	0	0	0	1	0	0	0	13346	797	28	2	152	2	RHOV	15	41165405	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	211081	41165405	61365987	1282	42630											
VPS18	57617	broad.mit.edu	37	chr15	41194934	41194934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggaagatgtacagacaGccatggcttgcctggctagc	13	9	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:41194934G>A	uc001zne.2	+	5	2656	c.2317G>A	c.(2317-2319)GCC>ACC	p.A773T		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	773	Clathrin.				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGTACAGACAGCCATGGCTTG	0.557													A	41194934	G	A	41194934	3	1	55	1	0	0	0	0	1	0	0	0	17191	971	34	2	2335	2	VPS18	15	41194934	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	29529	41194934	61336458	1283	42631											
NUSAP1	51203	broad.mit.edu	37	chr15	41641419	41641419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaaggtgcaagactgtcCgtgtggaccctgactcacag	14	10	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:41641419C>T	uc001zns.3	+	3	516	c.286C>T	c.(286-288)CGT>TGT	p.R96C	NUSAP1_uc001znq.3_5'UTR|NUSAP1_uc001znr.3_Missense_Mutation_p.R96C|NUSAP1_uc010bce.2_Missense_Mutation_p.R96C|NUSAP1_uc001znt.3_Missense_Mutation_p.R96C|NUSAP1_uc001znv.3_Missense_Mutation_p.R96C|NUSAP1_uc001znu.3_Missense_Mutation_p.R96C|NUSAP1_uc010ucw.1_Missense_Mutation_p.R73C|NUSAP1_uc001znw.3_5'UTR	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	96					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding				0		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		CAAGACTGTCCGTGTGGACCC	0.423													T	41641419	C	T	41641419	3	4	55	1	0	0	0	0	1	0	0	0	10778	652	23	1	296	1	NUSAP1	15	41641419	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	446485	41641419	60889973	1284	42632											
CAPN3	825	broad.mit.edu	37	chr15	42703188	42703188	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcttcgttaggctggaGggcatgttcagtaagtggga	16	6	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:42703188G>T	uc001zpn.1	+	22	2676	c.2370G>T	c.(2368-2370)GAG>GAT	p.E790D	CAPN3_uc001zpk.1_Missense_Mutation_p.E557D|CAPN3_uc001zpl.1_Missense_Mutation_p.E697D|CAPN3_uc010udf.1_Missense_Mutation_p.E703D|CAPN3_uc010udg.1_Missense_Mutation_p.E655D|CAPN3_uc001zpo.1_Missense_Mutation_p.E784D|CAPN3_uc001zpp.1_Missense_Mutation_p.E698D|CAPN3_uc001zpq.1_Missense_Mutation_p.E278D|CAPN3_uc010bcv.1_Missense_Mutation_p.E125D|CAPN3_uc001zpr.1_Missense_Mutation_p.E125D|CAPN3_uc001zps.1_Missense_Mutation_p.E125D|CAPN3_uc001zpt.1_Missense_Mutation_p.E125D	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	790	EF-hand 4.|Domain IV.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TTAGGCTGGAGGGCATGTTCA	0.517													T	42703188	G	T	42703188	3	4	55	1	0	0	0	0	1	0	0	0	2628	991	35	5	2508	5	CAPN3	15	42703188	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1061769	42703188	59828204	1285	42633											
UBR1	197131	broad.mit.edu	37	chr15	43378309	43378309	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaccattccagtggagtgaAtattgacatttgtacacttt	8	7	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:43378309A>G	uc001zqq.2	-	2	277	c.211T>C	c.(211-213)TTC>CTC	p.F71L	UBR1_uc010udk.1_Missense_Mutation_p.F71L	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	71					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGTGGAGTGAATATTGACATT	0.403													G	43378309	A	G	43378309	3	3	55	1	0	0	0	0	1	0	0	0	16898	101	4	3	5222	3	UBR1	15	43378309	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	675121	43378309	59153083	1286	42634											
CATSPER2	117155	broad.mit.edu	37	chr15	43924970	43924970	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaataggaagaggatgtggaGgagacacaggaggaagactg	18	3	0	3	rs140242525		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:43924970G>T	uc001zsh.2	-	11	1556	c.1341C>A	c.(1339-1341)TCC>TCA	p.S447S	STRC_uc010udz.1_5'Flank|CATSPER2_uc010bdm.2_Intron|CATSPER2_uc001zsi.2_Silent_p.S445S|CATSPER2_uc001zsj.2_Silent_p.S445S	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	sperm-associated cation channel 2 isoform 2	447	Cytoplasmic (Potential).|Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			ovary(1)	1		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		aggatgtggaggagacacagg	0.264													T	43924970	G	T	43924970	2	4	55	1	0	0	0	0	0	0	0	1	2688	987	35	5		5	CATSPER2	15	43924970	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	546661	43924970	58606422	1287	42635											
CATSPER2	117155	broad.mit.edu	37	chr15	43925000	43925000	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggaagactggtactctctCttttttgacaaggtctcttc	9	9	3	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:43925000C>T	uc001zsh.2	-	11	1526	c.1311G>A	c.(1309-1311)AAG>AAA	p.K437K	STRC_uc010udz.1_5'Flank|CATSPER2_uc010bdm.2_Intron|CATSPER2_uc001zsi.2_Silent_p.K435K|CATSPER2_uc001zsj.2_Silent_p.K435K	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	sperm-associated cation channel 2 isoform 2	437	Cytoplasmic (Potential).|Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			ovary(1)	1		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GGTACTCTCTCTTTTTTGACA	0.294													T	43925000	C	T	43925000	2	4	55	1	0	0	0	0	0	0	0	1	2688	912	32	4		4	CATSPER2	15	43925000	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	30	43925000	58606392	1288	42636											
WDR76	79968	broad.mit.edu	37	chr15	44127316	44127316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaacatatcagaaaacGcagacttttttgcttctctt	6	8	2	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:44127316G>A	uc001zti.1	+	3	543	c.520G>A	c.(520-522)GCA>ACA	p.A174T		NM_024908	NP_079184	Q9H967	WDR76_HUMAN	WD repeat domain 76	174											0		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		ATCAGAAAACGCAGACTTTTT	0.294													A	44127316	G	A	44127316	3	1	55	1	0	0	0	0	1	0	0	0	17323	1087	38	1	530	1	WDR76	15	44127316	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	202316	44127316	58404076	1289	42637											
DUOX1	53905	broad.mit.edu	37	chr15	45445636	45445636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccatcagccccctcagCgtcctctcttgcctctttcc	4	20	5	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:45445636C>T	uc001zus.1	+	27	3829	c.3483C>T	c.(3481-3483)AGC>AGT	p.S1161S	DUOX1_uc001zut.1_Silent_p.S1161S|DUOX1_uc010bee.1_Silent_p.S541S	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1161	Helical; (Potential).|Interaction with TXNDC11 (By similarity).|Ferric oxidoreductase.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCCCCCTCAGCGTCCTCTCTT	0.428													T	45445636	C	T	45445636	2	4	55	1	0	0	0	0	0	0	0	1	4800	767	27	1		1	DUOX1	15	45445636	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1318320	45445636	57085756	1290	42638											
SLC12A1	6557	broad.mit.edu	37	chr15	48566829	48566829	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagccaaggatttgacatcTctcaggttcttcaggtgcaa	9	10	5	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:48566829T>C	uc001zwn.3	+	20	2680	c.2464T>C	c.(2464-2466)TCT>CCT	p.S822P	SLC12A1_uc010uew.1_Missense_Mutation_p.S628P|SLC12A1_uc001zwq.3_Missense_Mutation_p.S593P|SLC12A1_uc001zwr.3_Missense_Mutation_p.S549P	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	822	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATTTGACATCTCTCAGGTTCT	0.279													C	48566829	T	C	48566829	3	2	55	1	0	0	0	0	1	0	0	0	14382	1551	54	3	2638	3	SLC12A1	15	48566829	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	3121193	48566829	53964563	1291	42639											
HDC	3067	broad.mit.edu	37	chr15	50534848	50534848	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccattttcccttttcatgGgaccggctcccacacgctga	9	15	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:50534848G>T	uc001zxz.2	-	12	1704	c.1598C>A	c.(1597-1599)CCC>CAC	p.P533H	HDC_uc001zxy.2_Missense_Mutation_p.P276H|HDC_uc010uff.1_Missense_Mutation_p.P500H	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	533					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CCTTTTCATGGGACCGGCTCC	0.567													T	50534848	G	T	50534848	3	4	55	1	0	0	0	0	1	0	0	0	7015	1232	43	5	394	5	HDC	15	50534848	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1968019	50534848	51996544	1292	42640											
HDC	3067	broad.mit.edu	37	chr15	50544900	50544900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatccccttcagaaacccccGgaactcggggcacaggaagg	11	14	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:50544900G>A	uc001zxz.2	-	8	965	c.859C>T	c.(859-861)CGG>TGG	p.R287W	HDC_uc001zxy.2_Missense_Mutation_p.R30W|HDC_uc010uff.1_Missense_Mutation_p.R287W	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	287					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AGAAACCCCCGGAACTCGGGG	0.557													A	50544900	G	A	50544900	3	1	55	1	0	0	0	0	1	0	0	0	7015	1115	39	1	1149	1	HDC	15	50544900	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	10052	50544900	51986492	1293	42641											
HDC	3067	broad.mit.edu	37	chr15	50546332	50546332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatcctgacttacaaagaCgggcaccaagccccgctgct	8	14	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:50546332C>T	uc001zxz.2	-	6	821	c.715G>A	c.(715-717)GTC>ATC	p.V239I	HDC_uc001zxy.2_5'Flank|HDC_uc010uff.1_Missense_Mutation_p.V239I|HDC_uc010bet.1_Missense_Mutation_p.V160I|HDC_uc010beu.1_Missense_Mutation_p.V239I	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	239					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CTTACAAAGACGGGCACCAAG	0.463													T	50546332	C	T	50546332	3	4	55	1	0	0	0	0	1	0	0	0	7015	536	19	1	1301	1	HDC	15	50546332	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1432	50546332	51985060	1294	42642											
TRPM7	54822	broad.mit.edu	37	chr15	50925140	50925140	+	Frame_Shift_Del	DEL	T	T	-													attctggccaaagttaaatgTttttttgatagtggaaataa							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:50925140delT	uc001zyt.3	-	9	1321	c.1057delA	c.(1057-1059)ACAfs	p.T353fs	TRPM7_uc010bew.1_Frame_Shift_Del_p.T353fs	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	353	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AAGTTAAATGTTTTTTTGATA	0.338													-	50925140	T	-	50925140	7	5	55	1	0	1	0	1	0	0	0	0	16588	1725	60	0	4664	0	TRPM7	15	50925140	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	378808	50925140	51606252	1295	42643											
MYO5C	55930	broad.mit.edu	37	chr15	52534329	52534329	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaatcaactgatacaggctGcgaacaagatacccgcggca	10	12	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:52534329G>A	uc010bff.2	-	20	2609	c.2472C>T	c.(2470-2472)CGC>CGT	p.R824R	MYO5C_uc010uga.1_Intron|MYO5C_uc010ugb.1_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	824	IQ 3.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		GATACAGGCTGCGAACAAGAT	0.507													A	52534329	G	A	52534329	2	1	55	1	0	0	0	0	0	0	0	1	10080	1306	46	2		2	MYO5C	15	52534329	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1609189	52534329	49997063	1296	42644											
UNC13C	440279	broad.mit.edu	37	chr15	54786884	54786884	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaatggttttataatgaatAtgtgcgtgaacttcctgcct	8	6	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:54786884A>G	uc002ack.2	+	18	5012	c.5012A>G	c.(5011-5013)TAT>TGT	p.Y1671C		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1671	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TATAATGAATATGTGCGTGAA	0.338													G	54786884	A	G	54786884	3	3	55	1	0	0	0	0	1	0	0	0	16983	449	16	3	5082	3	UNC13C	15	54786884	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	2252555	54786884	47744508	1297	42645											
SLTM	79811	broad.mit.edu	37	chr15	59186705	59186705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacacctggacacctctgtgCttgaagacatagttacaatg	8	10	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:59186705C>T	uc002afp.2	-	10	1392	c.1304G>A	c.(1303-1305)AGC>AAC	p.S435N	SLTM_uc002afn.2_Missense_Mutation_p.S4N|SLTM_uc002afo.2_Missense_Mutation_p.S417N|SLTM_uc002afq.2_Missense_Mutation_p.S4N|SLTM_uc010bgd.2_Missense_Mutation_p.S4N	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	435	RRM.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						CACCTCTGTGCTTGAAGACAT	0.413													T	59186705	C	T	59186705	3	4	55	1	0	0	0	0	1	0	0	0	14754	797	28	2	1848	2	SLTM	15	59186705	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	4399821	59186705	43344687	1298	42646											
FOXB1	27023	broad.mit.edu	37	chr15	60297193	60297193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggccgcaacacgtacagcGaccagaagccgccctactcg	10	18	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:60297193G>A	uc002agj.1	+	2	510	c.31G>A	c.(31-33)GAC>AAC	p.D11N	FOXB1_uc010bgh.1_Intron	NM_012182	NP_036314	Q99853	FOXB1_HUMAN	forkhead box B1	11					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)|central_nervous_system(1)	2						CACGTACAGCGACCAGAAGCC	0.627													A	60297193	G	A	60297193	3	1	55	1	0	0	0	0	1	0	0	0	5992	1058	37	1	33	1	FOXB1	15	60297193	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1110488	60297193	42234199	1299	42647											
RORA	6095	broad.mit.edu	37	chr15	60806925	60806925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgaggacaggagtaggtgGcattgctttgctgacttctc	14	8	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:60806925G>A	uc002agv.2	-	5	569	c.413C>T	c.(412-414)GCC>GTC	p.A138V	uc002ags.1_Intron|RORA_uc002agt.3_Missense_Mutation_p.A50V|RORA_uc002agw.2_Missense_Mutation_p.A130V|RORA_uc002agx.2_Missense_Mutation_p.A105V	NM_134260	NP_599022	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform b	138	Nuclear receptor.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						GGAGTAGGTGGCATTGCTTTG	0.433													A	60806925	G	A	60806925	3	1	55	1	0	0	0	0	1	0	0	0	13528	1203	42	2	1289	2	RORA	15	60806925	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	509732	60806925	41724467	1300	42648											
TPM1	7168	broad.mit.edu	37	chr15	63353977	63353977	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagtcactggaggctcAggctgagaaggtaggccagg	16	8	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:63353977A>G	uc002alg.2	+	6	820	c.629A>G	c.(628-630)CAG>CGG	p.Q210R	TPM1_uc002alh.2_Intron|TPM1_uc010bgn.2_Intron|TPM1_uc002ali.2_Missense_Mutation_p.Q210R|TPM1_uc002alj.2_Missense_Mutation_p.Q210R|TPM1_uc002alk.2_Intron|TPM1_uc002all.2_Intron|TPM1_uc002alm.2_Missense_Mutation_p.Q252R|TPM1_uc010uie.1_Missense_Mutation_p.Q210R|TPM1_uc002alp.2_Missense_Mutation_p.Q210R|TPM1_uc010uif.1_Intron|TPM1_uc002alr.2_Intron|TPM1_uc002als.2_Missense_Mutation_p.Q174R|TPM1_uc010uig.1_Missense_Mutation_p.Q174R|TPM1_uc002alt.2_Intron|TPM1_uc010bgp.2_Intron	NM_001018005	NP_001018005	P09493	TPM1_HUMAN	tropomyosin 1 alpha chain isoform 1	210	By similarity.				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle				0						CTGGAGGCTCAGGCTGAGAAG	0.483													G	63353977	A	G	63353977	3	3	55	1	0	0	0	0	1	0	0	0	16402	188	7	3	997	3	TPM1	15	63353977	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	2547052	63353977	39177415	1301	42649											
CILP	8483	broad.mit.edu	37	chr15	65497795	65497795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgcgctctgtgtctcggCgcagggatcctgcaaagtga	14	10	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:65497795C>T	uc002aon.2	-	5	615	c.434G>A	c.(433-435)CGC>CAC	p.R145H		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	145					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						TGTGTCTCGGCGCAGGGATCC	0.557													T	65497795	C	T	65497795	3	4	55	1	0	0	0	0	1	0	0	0	3429	768	27	1	3140	1	CILP	15	65497795	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2143818	65497795	37033597	1302	42650											
CILP	8483	broad.mit.edu	37	chr15	65499345	65499345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctcatagtcgcccttccCgcctgggtagtcgatgttga	11	14	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:65499345C>T	uc002aon.2	-	4	380	c.199G>A	c.(199-201)GGG>AGG	p.G67R		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	67					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						TCGCCCTTCCCGCCTGGGTAG	0.602													T	65499345	C	T	65499345	3	4	55	1	0	0	0	0	1	0	0	0	3429	652	23	1	3379	1	CILP	15	65499345	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1550	65499345	37032047	1303	42651											
IGDCC4	57722	broad.mit.edu	37	chr15	65681222	65681222	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggatcagatactccacgatCtccccgttgggctctgtggg	12	12	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:65681222C>T	uc002aou.1	-	15	2841	c.2631G>A	c.(2629-2631)GAG>GAA	p.E877E	IGDCC4_uc002aot.1_Silent_p.E465E	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	877	Extracellular (Potential).|Fibronectin type-III 5.					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						ACTCCACGATCTCCCCGTTGG	0.667													T	65681222	C	T	65681222	2	4	55	1	0	0	0	0	0	0	0	1	7569	912	32	4		4	IGDCC4	15	65681222	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	181877	65681222	36850170	1304	42652											
SMAD6	4091	broad.mit.edu	37	chr15	67073733	67073733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgggcctgcagcacgcgcccGagcccgacgccgccgacggc	15	20	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:67073733G>A	uc002aqf.2	+	4	2274	c.1351G>A	c.(1351-1353)GAG>AAG	p.E451K	SMAD6_uc010bhx.2_RNA|SMAD6_uc002aqg.2_Missense_Mutation_p.E190K	NM_005585	NP_005576	O43541	SMAD6_HUMAN	SMAD family member 6 isoform 1	451	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			skin(1)	1						GCACGCGCCCGAGCCCGACGC	0.726													A	67073733	G	A	67073733	3	1	55	1	0	0	0	0	1	0	0	0	14762	1059	37	1	1403	1	SMAD6	15	67073733	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1392511	67073733	35457659	1305	42653											
SMAD3	4088	broad.mit.edu	37	chr15	67457691	67457691	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgaaaacactaacttcccCgcaggcatcgagccccagag	8	17	0	1	rs138395233		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:67457691C>A	uc002aqj.2	+	3	799	c.501C>A	c.(499-501)CCC>CCA	p.P167P	SMAD3_uc010ujr.1_Silent_p.P62P|SMAD3_uc010ujs.1_Silent_p.P123P|SMAD3_uc010ujt.1_5'Flank	NM_005902	NP_005893	P84022	SMAD3_HUMAN	mothers against decapentaplegic homolog 3	167	Linker.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CTAACTTCCCCGCAGGCATCG	0.627													A	67457691	C	A	67457691	2	1	55	1	0	0	0	0	0	0	0	1	14759	639	23	5		5	SMAD3	15	67457691	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	383958	67457691	35073701	1306	42654											
LARP6	55323	broad.mit.edu	37	chr15	71125328	71125328	+	Frame_Shift_Del	DEL	T	T	-													ggagcatcttgctggggaggTtctcgttggggaacagtggg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:71125327_71125327GT>G	uc002ass.3	-	2	611	c.540_540AC>C	c.(538-540)aacfs	p.N180fs		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.	180					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TGCTGGGGAGGTTCTCGTTGG	0.552													-	71125328	T	-	71125328	7	5	55	1	0	1	0	1	0	0	0	0	8632	1725	60	0	940	0	LARP6	15	71125328	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	3667637	71125328	31406064	1307	42655											
GRAMD2	196996	broad.mit.edu	37	chr15	72459385	72459385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccattgggaaggagccgtgCcatcttgtgttttttgatca	11	8	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:72459385C>T	uc002atq.2	-	6	445	c.421G>A	c.(421-423)GCA>ACA	p.A141T	GRAMD2_uc010bis.2_Missense_Mutation_p.A141T	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	141						integral to membrane					0						AGGAGCCGTGCCATCTTGTGT	0.572													T	72459385	C	T	72459385	3	4	55	1	0	0	0	0	1	0	0	0	6750	739	26	2	671	2	GRAMD2	15	72459385	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1334057	72459385	30072007	1308	42656											
HCN4	10021	broad.mit.edu	37	chr15	73617718	73617718	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtagcggtgctcgtagtagTcgtggatgcgctgccgggtg	19	8	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:73617718T>C	uc002avp.2	-	5	2652	c.1658A>G	c.(1657-1659)GAC>GGC	p.D553G		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	553	Cytoplasmic (Potential).		D -> N (in a patient with cardiac arrhythmia).		blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		CTCGTAGTAGTCGTGGATGCG	0.652													C	73617718	T	C	73617718	3	2	55	1	0	0	0	0	1	0	0	0	6999	1667	58	3	1969	3	HCN4	15	73617718	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	1158333	73617718	28913674	1309	42657											
CSK	1445	broad.mit.edu	37	chr15	75090973	75090973	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggccgcctggccatccggTacagaatgtattgccaagta	11	12	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:75090973T>C	uc010bkb.1	+	4	216	c.33T>C	c.(31-33)GGT>GGC	p.G11G	CSK_uc010bka.2_Missense_Mutation_p.Y82H|CSK_uc002ays.2_Silent_p.G11G|CSK_uc010bkc.1_5'Flank	NM_001127190	NP_001120662	P41240	CSK_HUMAN	c-src tyrosine kinase	11	Interaction with PTPN8 (By similarity).|SH3.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			lung(2)|central_nervous_system(1)	3						GGCCATCCGGTACAGAATGTA	0.632													C	75090973	T	C	75090973	2	2	55	1	0	0	0	0	0	0	0	1	3943	1625	57	3		3	CSK	15	75090973	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	1473255	75090973	27440419	1310	42658											
LMAN1L	79748	broad.mit.edu	37	chr15	75108796	75108796	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacacccggggcaggggccAtgtaggctctgtccttgggg	17	11	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:75108796A>G	uc002ayt.1	+	3	361	c.359A>G	c.(358-360)CAT>CGT	p.H120R	LMAN1L_uc010bkd.2_Missense_Mutation_p.H48R|LMAN1L_uc010ulo.1_Intron|LMAN1L_uc010bke.1_Missense_Mutation_p.H120R	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like precursor	120	Lumenal (Potential).|L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0						GGCAGGGGCCATGTAGGCTCT	0.632													G	75108796	A	G	75108796	3	3	55	1	0	0	0	0	1	0	0	0	8837	217	8	3	369	3	LMAN1L	15	75108796	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	17823	75108796	27422596	1311	42659											
SCAMP2	10066	broad.mit.edu	37	chr15	75142904	75142904	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaaggaaggcacagggagTgaagatcagaaaccacagga	13	7	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:75142904T>C	uc002azb.1	-	6	657	c.583A>G	c.(583-585)ACT>GCT	p.T195A	SCAMP2_uc002aza.1_Missense_Mutation_p.T45A|SCAMP2_uc010bkg.1_Intron	NM_005697	NP_005688	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	195	Helical; (Potential).				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			ovary(1)	1						GCACAGGGAGTGAAGATCAGA	0.557													C	75142904	T	C	75142904	3	2	55	1	0	0	0	0	1	0	0	0	13871	1696	59	3	422	3	SCAMP2	15	75142904	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	34108	75142904	27388488	1312	42660											
C15orf39	56905	broad.mit.edu	37	chr15	75500244	75500245	+	Frame_Shift_Ins	INS	-	-	A													gtcagatctgccaggcctgaINSaaaagatagacacagaagca							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:75500243_75500244G>GA	uc002azp.4	+	1	2174_2175	c.1854_1855G>GA	c.(1852-1857)ctgaaafs	p.L618fs	C15orf39_uc002azq.4_Frame_Shift_Ins_p.L618fs|C15orf39_uc021sqm.1_Frame_Shift_Ins_p.L377fs|C15orf39_uc002azr.4_Frame_Shift_Ins_p.L16fs	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	618										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						TGCCAGGCCTGAAAAAGATAGA	0.569													A	75500245	-	A	75500244	7	5	55	1	0	1	1	0	0	0	0	0	1793	247	9	0	1857	0	C15orf39	15	75500244	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	357340	75500244	27031148	1313	42661											
NEIL1	79661	broad.mit.edu	37	chr15	75641547	75641547	+	Frame_Shift_Del	DEL	T	T	-													cacgccatgcccacctgcgcTtttacacggccccgcctggc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:75641547delT	uc002bad.2	+	2	807	c.301delT	c.(301-303)TTTfs	p.F101fs	NEIL1_uc002bae.2_Frame_Shift_Del_p.F187fs	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1	101					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			ovary(1)	1						CCACCTGCGCTTTTACACGGC	0.701								BER_DNA_glycosylases					-	75641547	T	-	75641547	7	5	55	1	0	1	0	1	0	0	0	0	10318	1609	56	0	303	0	NEIL1	15	75641547	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	141303	75641547	26889845	1314	42662											
NEIL1	79661	broad.mit.edu	37	chr15	75644525	75644525	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccctcctggaccagaggTtcttcaatggcattggcaac	11	12	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:75644525T>C	uc002bad.2	+	3	1014	c.508T>C	c.(508-510)TTC>CTC	p.F170L	NEIL1_uc002bae.2_Missense_Mutation_p.F256L	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1	170					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			ovary(1)	1						GGACCAGAGGTTCTTCAATGG	0.592								BER_DNA_glycosylases					C	75644525	T	C	75644525	3	2	55	1	0	0	0	0	1	0	0	0	10318	1725	60	3	514	3	NEIL1	15	75644525	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	2978	75644525	26886867	1315	42663											
NEIL1	79661	broad.mit.edu	37	chr15	75644698	75644698	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctttgagaaggcccgctcGgtcctggaggccctgcagca	13	15	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:75644698G>A	uc002bad.2	+	4	1094	c.588G>A	c.(586-588)TCG>TCA	p.S196S	NEIL1_uc002bae.2_Silent_p.S282S	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1	196					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			ovary(1)	1						AGGCCCGCTCGGTCCTGGAGG	0.652								BER_DNA_glycosylases					A	75644698	G	A	75644698	2	1	55	1	0	0	0	0	0	0	0	1	10318	1103	39	1		1	NEIL1	15	75644698	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	173	75644698	26886694	1316	42664											
SIN3A	25942	broad.mit.edu	37	chr15	75706642	75706642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtcaagataagatagcGcatcctccacctgaggcagg	11	12	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:75706642G>A	uc002bai.2	-	4	636	c.377C>T	c.(376-378)GCG>GTG	p.A126V	SIN3A_uc002baj.2_Missense_Mutation_p.A126V|SIN3A_uc010uml.1_Missense_Mutation_p.A126V	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	126	Interaction with HCFC1.|PAH 1.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						ATAAGATAGCGCATCCTCCAC	0.353													A	75706642	G	A	75706642	3	1	55	1	0	0	0	0	1	0	0	0	14325	1087	38	1	3516	1	SIN3A	15	75706642	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	61944	75706642	26824750	1317	42665											
SGK269	79834	broad.mit.edu	37	chr15	77473630	77473630	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttactaatcacttctgtgctCccactcagaataacatgctt	4	12	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:77473630C>A	uc002bcm.2	-	3	947	c.639G>T	c.(637-639)GGG>GGT	p.G213G	SGK269_uc002bcn.2_Silent_p.G213G	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	213					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		CTTCTGTGCTCCCACTCAGAA	0.443													A	77473630	C	A	77473630	2	1	55	1	0	0	0	0	0	0	0	1	14211	842	30	5		5	SGK269	15	77473630	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1766988	77473630	25057762	1318	42666											
ZFAND6	54469	broad.mit.edu	37	chr15	80414053	80414053	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaatgtggtactgttacaGcaacctctgtcagtagtctg	10	10	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:80414053G>A	uc002bfe.1	+	4	466	c.155_splice	c.e4-1	p.A52_splice	ZFAND6_uc002bff.1_Splice_Site_p.A52_splice|ZFAND6_uc002bfg.1_Intron|ZFAND6_uc002bfh.1_Splice_Site_p.A52_splice|ZFAND6_uc002bfi.1_Splice_Site_p.A52_splice	NM_019006	NP_061879	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6								DNA binding|zinc ion binding				0						TACTGTTACAGCAACCTCTGT	0.398													A	80414053	G	A	80414053	5	1	55	1	0	0	0	0	0	0	1	0	17628	985	34	2	160	2	ZFAND6	15	80414053	Splice_Site	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2940423	80414053	22117339	1319	42667											
HOMER2	9455	broad.mit.edu	37	chr15	83523551	83523551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacttcttcacgttggctgCgctgcaggacagggacgggc	14	13	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:83523551C>T	uc002bjg.2	-	6	715	c.529G>A	c.(529-531)GCA>ACA	p.A177T	HOMER2_uc002bjh.2_Missense_Mutation_p.A166T|HOMER2_uc002bjj.2_Missense_Mutation_p.A166T|HOMER2_uc002bji.2_Missense_Mutation_p.A177T	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	homer 2 isoform 2	177	Potential.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane					0						ACGTTGGCTGCGCTGCAGGAC	0.672													T	83523551	C	T	83523551	3	4	55	1	0	0	0	0	1	0	0	0	7279	782	27	1	551	1	HOMER2	15	83523551	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3109498	83523551	19007841	1320	42668											
MFGE8	4240	broad.mit.edu	37	chr15	89453092	89453092	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggggaagacatctcctcGcacttcttgggaaatctcct	10	12	3	1	rs141213799		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:89453092G>A	uc002bng.3	-	2	249	c.136C>T	c.(136-138)CGA>TGA	p.R46*	MFGE8_uc002bnf.3_5'UTR|MFGE8_uc002bnh.3_Nonsense_Mutation_p.R46*|MFGE8_uc010bnn.2_Nonsense_Mutation_p.R38*|MFGE8_uc010upq.1_Intron|MFGE8_uc010upr.1_Nonsense_Mutation_p.R46*|MFGE8_uc010bno.2_Intron	NM_005928	NP_005919	Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein isoform a	46	Cell attachment site.|EGF-like.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					ovary(1)	1	Lung NSC(78;0.0392)|all_lung(78;0.077)					ACATCTCCTCGCACTTCTTGG	0.532													A	89453092	G	A	89453092	4	1	55	1	0	0	0	0	0	1	0	0	9520	1095	38	1	1055	1	MFGE8	15	89453092	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5929541	89453092	13078300	1321	42669											
C15orf42	90381	broad.mit.edu	37	chr15	90168494	90168494	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcctgtacccccacccaCggcccttctagtaccccctc	6	22	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:90168494C>T	uc002boe.2	+	20	4953	c.4953C>T	c.(4951-4953)CAC>CAT	p.H1651H	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1651					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCCCCACCCACGGCCCTTCTA	0.577													T	90168494	C	T	90168494	2	4	55	1	0	0	0	0	0	0	0	1	1796	535	19	1		1	C15orf42	15	90168494	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	715402	90168494	12362898	1322	42670											
KIF7	374654	broad.mit.edu	37	chr15	90190140	90190140	+	Frame_Shift_Del	DEL	C	C	-													ccagcacatgggcgtgggcaCcccccaggggggctgtatga							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:90190140delC	uc002bof.2	-	7	1786	c.1709delG	c.(1708-1710)GGTfs	p.G570fs	KIF7_uc010upw.1_Frame_Shift_Del_p.G57fs	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	kinesin family member 7	570					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			ovary(2)|lung(1)	3	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GGCGTGGGCACCCCCCAGGGG	0.687											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	90190140	C	-	90190140	7	5	55	1	0	1	0	1	0	0	0	0	8309	507	18	0	2374	0	KIF7	15	90190140	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	21646	90190140	12341252	1323	42671											
SEMA4B	10509	broad.mit.edu	37	chr15	90764988	90764988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtgtcccgcattgcccgCatctgcaaggtgaggggaac	13	11	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:90764988C>T	uc002boy.2	+	8	1135	c.852C>T	c.(850-852)CGC>CGT	p.R284R	SEMA4B_uc002boz.2_Silent_p.R284R|SEMA4B_uc010uqd.1_Silent_p.R122R|SEMA4B_uc002bpa.2_Silent_p.R122R|SEMA4B_uc010bnv.1_5'UTR	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GCATTGCCCGCATCTGCAAGG	0.552											OREG0023469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	90764988	C	T	90764988	2	4	55	1	0	0	0	0	0	0	0	1	14032	697	25	2		2	SEMA4B	15	90764988	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	574848	90764988	11766404	1324	42672											
FURIN	5045	broad.mit.edu	37	chr15	91424619	91424619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactatagcaccgagaatgaCgtggagaccatccgggccag	12	12	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:91424619C>T	uc002bpu.1	+	16	2112	c.1896C>T	c.(1894-1896)GAC>GAT	p.D632D		NM_002569	NP_002560	P09958	FURIN_HUMAN	furin preproprotein	632	Cys-rich.				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			central_nervous_system(4)|lung(2)|breast(1)	7	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCGAGAATGACGTGGAGACCA	0.662													T	91424619	C	T	91424619	2	4	55	1	0	0	0	0	0	0	0	1	6099	535	19	1		1	FURIN	15	91424619	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	659631	91424619	11106773	1325	42673											
SV2B	9899	broad.mit.edu	37	chr15	91811750	91811750	+	Frame_Shift_Del	DEL	T	T	-													acaagtctaaaatgaaggtgTtttttggtgagcatgtgtac					rs3743444	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:91811749_91811749GT>G	uc002bqv.3	+	9	2178	c.1287_1287GT>G	c.(1285-1287)gtgfs	p.V429fs	SV2B_uc002bqt.3_Frame_Shift_Del_p.V429fs|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Frame_Shift_Del_p.V278fs	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	429					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AAATGAAGGTGTTTTTTGGTG	0.413													-	91811750	T	-	91811750	7	5	55	1	0	1	0	1	0	0	0	0	15415	1725	60	0	1318	0	SV2B	15	91811750	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	387131	91811750	10719642	1326	42674											
IGF1R	3480	broad.mit.edu	37	chr15	99465555	99465555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaactgtcatttctaaccttCggcctttcacattgtaccgc	6	13	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:99465555C>T	uc002bul.2	+	11	2430	c.2380C>T	c.(2380-2382)CGG>TGG	p.R794W	IGF1R_uc010urq.1_Missense_Mutation_p.R794W|IGF1R_uc010bon.2_Missense_Mutation_p.R794W|IGF1R_uc010boo.1_5'Flank	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	794	Extracellular (Potential).				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TTCTAACCTTCGGCCTTTCAC	0.517													T	99465555	C	T	99465555	3	4	55	1	0	0	0	0	1	0	0	0	7571	875	31	1	2422	1	IGF1R	15	99465555	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	7653805	99465555	3065837	1327	42675											
LYSMD4	145748	broad.mit.edu	37	chr15	100269416	100269416	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctagtctgggggcttgccctGgaactgtacccattgccatc	11	13	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:100269416G>T	uc002bvk.2	-	3	866	c.803C>A	c.(802-804)CCA>CAA	p.P268Q	LYSMD4_uc002bvj.1_Intron|LYSMD4_uc010bou.1_Intron|LYSMD4_uc002bvl.2_Missense_Mutation_p.P269Q|LYSMD4_uc002bvm.2_3'UTR|LYSMD4_uc010bov.2_Missense_Mutation_p.P268Q			Q5XG99	LYSM4_HUMAN	SubName: Full=cDNA FLJ77040, highly similar to Homo sapiens LysM, putative peptidoglycan-binding, domain containing 4, mRNA; SubName: Full=LysM, putative peptidoglycan-binding, domain containing 4, isoform CRA_c;	268	Cytoplasmic (Potential).				cell wall macromolecule catabolic process	integral to membrane					0	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			GGCTTGCCCTGGAACTGTACC	0.493													T	100269416	G	T	100269416	3	4	55	1	0	0	0	0	1	0	0	0	9127	1348	47	5	91	5	LYSMD4	15	100269416	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	803861	100269416	2261976	1328	42676											
LRRK1	79705	broad.mit.edu	37	chr15	101565120	101565120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggtggtctggaacctggCgctgggggaggaggccgtgg	22	8	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:101565120C>T	uc002bwr.2	+	16	2499	c.2180C>T	c.(2179-2181)GCG>GTG	p.A727V	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	727	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGGAACCTGGCGCTGGGGGAG	0.622													T	101565120	C	T	101565120	3	4	55	1	0	0	0	0	1	0	0	0	9032	768	27	1	2238	1	LRRK1	15	101565120	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1295704	101565120	966272	1329	42677											
OR4F6	390648	broad.mit.edu	37	chr15	102345982	102345982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgggactctctgactcGcggaagatccagctcctcct	9	15	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:102345982G>A	uc010utr.1	+	1	60	c.60G>A	c.(58-60)TCG>TCA	p.S20S		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TCTCTGACTCGCGGAAGATCC	0.493													A	102345982	G	A	102345982	2	1	55	1	0	0	0	0	0	0	0	1	11066	1074	38	1		1	OR4F6	15	102345982	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	780862	102345982	185410	1330	42678											
IFT140	9742	broad.mit.edu	37	chr16	1642178	1642178	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaaccaaagttcctcaccGtccatcagactgacaaagaa	5	14	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:1642178G>A	uc002cmb.2	-	6	995	c.633C>T	c.(631-633)GAC>GAT	p.D211D		NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	211										ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)				GTTCCTCACCGTCCATCAGAC	0.468													A	1642178	G	A	1642178	2	1	55	1	0	0	0	0	0	0	0	1	7556	1159	40	1		1	IFT140	16	1642178	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08		1642178	88712575	1331	42679											
CRAMP1L	57585	broad.mit.edu	37	chr16	1706049	1706049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcactggcaggagggcggcCggtgcaagcagagtgccaag	18	10	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:1706049C>T	uc010uvh.1	+	9	1291	c.1291C>T	c.(1291-1293)CGG>TGG	p.R431W	CRAMP1L_uc002cmf.2_Intron	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	431						nucleus	DNA binding				0						GGAGGGCGGCCGGTGCAAGCA	0.682													T	1706049	C	T	1706049	3	4	55	1	0	0	0	0	1	0	0	0	3846	643	23	1	1325	1	CRAMP1L	16	1706049	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	63871	1706049	88648704	1332	42680											
ZNF598	90850	broad.mit.edu	37	chr16	2051135	2051135	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgcgagcctcctcctgCtgctgtgcggccacggaggc	13	17	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:2051135C>T	uc002cof.1	-	9	1086	c.1071G>A	c.(1069-1071)CAG>CAA	p.Q357Q	ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	357						intracellular	zinc ion binding			lung(1)|breast(1)	2						CCTCCTCCTGCTGCTGTGCGG	0.682													T	2051135	C	T	2051135	2	4	55	1	0	0	0	0	0	0	0	1	18025	796	28	2		2	ZNF598	16	2051135	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	345086	2051135	88303618	1333	42681											
PKD1	5310	broad.mit.edu	37	chr16	2160688	2160688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaggtagctggcggggcGcccacggcccacagcagaga	15	15	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:2160688G>A	uc002cos.1	-	15	4689	c.4480C>T	c.(4480-4482)CGC>TGC	p.R1494C	PKD1_uc002cot.1_Missense_Mutation_p.R1494C	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1494	Extracellular (Potential).|PKD 10.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CTGGCGGGGCGCCCACGGCCC	0.652													A	2160688	G	A	2160688	3	1	55	1	0	0	0	0	1	0	0	0	11963	1087	38	1	8559	1	PKD1	16	2160688	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	109553	2160688	88194065	1334	42682											
SRRM2	23524	broad.mit.edu	37	chr16	2814062	2814062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcaggaggatgctactgCatcacctcctagacagaaag	9	13	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:2814062C>T	uc002crk.2	+	11	4082	c.3533C>T	c.(3532-3534)GCA>GTA	p.A1178V	SRRM2_uc002crj.1_Missense_Mutation_p.A1082V|SRRM2_uc002crl.1_Missense_Mutation_p.A1178V|SRRM2_uc010bsu.1_Missense_Mutation_p.A1082V	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1178	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GATGCTACTGCATCACCTCCT	0.473													T	2814062	C	T	2814062	3	4	55	1	0	0	0	0	1	0	0	0	15168	710	25	2	3571	2	SRRM2	16	2814062	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	653374	2814062	87540691	1335	42683											
SRRM2	23524	broad.mit.edu	37	chr16	2817604	2817604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccggctccagaaccgccGcagccttggcccccgcgagc	12	19	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:2817604G>A	uc002crk.2	+	11	7624	c.7075G>A	c.(7075-7077)GCA>ACA	p.A2359T	SRRM2_uc002crj.1_Missense_Mutation_p.A2263T|SRRM2_uc002crl.1_Missense_Mutation_p.A2359T|SRRM2_uc010bsu.1_Missense_Mutation_p.A2263T	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2359	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CAGAACCGCCGCAGCCTTGGC	0.632													A	2817604	G	A	2817604	3	1	55	1	0	0	0	0	1	0	0	0	15168	1087	38	1	7113	1	SRRM2	16	2817604	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3542	2817604	87537149	1336	42684											
PRSS21	10942	broad.mit.edu	37	chr16	2871411	2871411	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtaacaagaatggactgtgGtatcagattggagtcgtgag	14	4	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:2871411G>T	uc002crt.2	+	6	856	c.750G>T	c.(748-750)TGG>TGT	p.W250C	PRSS21_uc002crs.2_Missense_Mutation_p.W248C|PRSS21_uc002crr.2_Missense_Mutation_p.W236C	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN	testisin isoform 1	250	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			ovary(1)|skin(1)	2						ATGGACTGTGGTATCAGATTG	0.612													T	2871411	G	T	2871411	3	4	55	1	0	0	0	0	1	0	0	0	12618	1270	44	5	772	5	PRSS21	16	2871411	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	53807	2871411	87483342	1337	42685											
MMP25	64386	broad.mit.edu	37	chr16	3100409	3100409	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgacatcctcatcgactttGcccgcgccttccaccaggac	7	19	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:3100409G>C	uc002cth.2	+	4	760	c.523G>C	c.(523-525)GCC>CCC	p.A175P	MMP25_uc002cti.1_Missense_Mutation_p.A111P	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	matrix metalloproteinase 25 preproprotein	175					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0						CATCGACTTTGCCCGCGCCTT	0.637													C	3100409	G	C	3100409	3	2	55	1	0	0	0	0	1	0	0	0	9662	1319	46	5	537	5	MMP25	16	3100409	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	228998	3100409	87254344	1338	42686											
ZSCAN10	84891	broad.mit.edu	37	chr16	3139433	3139433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctattgcggaaacggtggcCgcaggtgtcgcaggcgtggg	19	9	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:3139433C>T	uc002ctv.1	-	5	1925	c.1837G>A	c.(1837-1839)GGC>AGC	p.G613S	ZSCAN10_uc002cty.1_Missense_Mutation_p.G274S|ZSCAN10_uc002ctw.1_Missense_Mutation_p.G531S|ZSCAN10_uc002ctx.1_Missense_Mutation_p.G541S	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	613	C2H2-type 11.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						AAACGGTGGCCGCAGGTGTCG	0.711													T	3139433	C	T	3139433	3	4	55	1	0	0	0	0	1	0	0	0	18224	652	23	1	344	1	ZSCAN10	16	3139433	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	39024	3139433	87215320	1339	42687											
TIGD7	91151	broad.mit.edu	37	chr16	3349597	3349597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttccatctatacagccGtttgcagctcaagatcacac	6	13	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:3349597G>A	uc002cus.2	-	1	1804	c.1018C>T	c.(1018-1020)CGG>TGG	p.R340W	ZNF263_uc002cur.2_3'UTR	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	340	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						CTATACAGCCGTTTGCAGCTC	0.274													A	3349597	G	A	3349597	3	1	55	1	0	0	0	0	1	0	0	0	15898	1144	40	1	635	1	TIGD7	16	3349597	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	210164	3349597	87005156	1340	42688											
CREBBP	1387	broad.mit.edu	37	chr16	3777887	3777887	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagctggccatggtgactgcGagtccggggtggggggaacc	20	9	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:3777887G>A	uc002cvv.2	-	31	7365	c.7161C>T	c.(7159-7161)CTC>CTT	p.L2387L	CREBBP_uc002cvw.2_Silent_p.L2349L	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2387					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGGTGACTGCGAGTCCGGGGT	0.642			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				A	3777887	G	A	3777887	2	1	55	1	0	0	0	0	0	0	0	1	3861	1045	37	1		1	CREBBP	16	3777887	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	428290	3777887	86576866	1341	42689											
CREBBP	1387	broad.mit.edu	37	chr16	3778282	3778282	+	Frame_Shift_Del	DEL	G	G	-													gcccatggagctgccctggaGggggagatgctgctgcatgc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:3778282delG	uc002cvv.2	-	31	6970	c.6766delC	c.(6766-6768)CTCfs	p.L2256fs	CREBBP_uc002cvw.2_Frame_Shift_Del_p.L2218fs	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2256					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGCCCTGGAGGGGGAGATGC	0.692			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				-	3778282	G	-	3778282	7	5	55	1	0	1	0	1	0	0	0	0	3861	1000	35	0	566	0	CREBBP	16	3778282	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	395	3778282	86576471	1342	42690											
CREBBP	1387	broad.mit.edu	37	chr16	3781302	3781302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccaccagcatgcagagcGtggaccacttggagcggcgc	14	14	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:3781302G>A	uc002cvv.2	-	30	5267	c.5063C>T	c.(5062-5064)ACG>ATG	p.T1688M	CREBBP_uc002cvw.2_Missense_Mutation_p.T1650M	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1688	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CATGCAGAGCGTGGACCACTT	0.632			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				A	3781302	G	A	3781302	3	1	55	1	0	0	0	0	1	0	0	0	3861	1145	40	1	2273	1	CREBBP	16	3781302	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3020	3781302	86573451	1343	42691											
CREBBP	1387	broad.mit.edu	37	chr16	3786655	3786655	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcgccgggtaccttgTagtcatggatgatccgctct	11	12	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:3786655T>C	uc002cvv.2	-	27	4760	c.4556A>G	c.(4555-4557)TAC>TGC	p.Y1519C	CREBBP_uc002cvw.2_Missense_Mutation_p.Y1481C	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1519	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGGTACCTTGTAGTCATGGAT	0.478			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				C	3786655	T	C	3786655	3	2	55	1	0	0	0	0	1	0	0	0	3861	1638	57	3	2792	3	CREBBP	16	3786655	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	5353	3786655	86568098	1344	42692											
SRL	6345	broad.mit.edu	37	chr16	4292061	4292061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagccgagcaggaccagcGccctcatggtgactgccaag	14	14	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:4292061G>A	uc002cvz.3	-	1	21	c.8C>T	c.(7-9)GCG>GTG	p.A3V	SRL_uc002cvy.3_RNA	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	sarcalumenin	3						sarcoplasmic reticulum lumen	GTP binding|GTPase activity			ovary(3)|skin(2)	5						CAGGACCAGCGCCCTCATGGT	0.667													A	4292061	G	A	4292061	3	1	55	1	0	0	0	0	1	0	0	0	15149	1087	38	1	1437	1	SRL	16	4292061	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	505406	4292061	86062692	1345	42693											
SEPT12	124404	broad.mit.edu	37	chr16	4834042	4834042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtactgctcgtattgctcGttgatgtagcccaggatggg	14	8	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:4834042G>A	uc002cxq.2	-	5	543	c.402C>T	c.(400-402)AAC>AAT	p.N134N	SEPT12_uc002cxr.2_Intron|SEPT12_uc010bty.2_RNA	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	septin 12 isoform 2	134					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			skin(1)	1						CGTATTGCTCGTTGATGTAGC	0.627													A	4834042	G	A	4834042	2	1	55	1	0	0	0	0	0	0	0	1	14062	1136	40	1		1	SEPT12	16	4834042	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	541981	4834042	85520711	1346	42694											
A2BP1	54715	broad.mit.edu	37	chr16	7680608	7680608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctctctttcgtaggcaCggtcctgttgtgccaggcca	10	14	2	0	rs145006582		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:7680608C>T	uc002cys.2	+	11	1668	c.680C>T	c.(679-681)ACG>ATG	p.T227M	A2BP1_uc010buf.1_Missense_Mutation_p.T227M|A2BP1_uc002cyr.1_Missense_Mutation_p.T226M|A2BP1_uc002cyt.2_Intron|A2BP1_uc010uxz.1_Missense_Mutation_p.T270M|A2BP1_uc010uya.1_Missense_Mutation_p.T184M|A2BP1_uc002cyv.1_Missense_Mutation_p.T227M|A2BP1_uc010uyb.1_Missense_Mutation_p.T227M|A2BP1_uc002cyw.2_Missense_Mutation_p.T247M|A2BP1_uc002cyy.2_Missense_Mutation_p.T247M|A2BP1_uc002cyx.2_Missense_Mutation_p.T247M|A2BP1_uc010uyc.1_Intron	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	227					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.T247M(1)			0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		TTCGTAGGCACGGTCCTGTTG	0.498													T	7680608	C	T	7680608	3	4	55	1	0	0	0	0	1	0	0	0	3	536	19	1	801	1	A2BP1	16	7680608	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2846566	7680608	82674145	1347	42695											
NDE1	54820	broad.mit.edu	37	chr16	15781279	15781279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcagcgcttgaatcaggCcatcgaaagaaatgccttcc	10	11	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:15781279C>T	uc002ddt.1	+	4	477	c.434C>T	c.(433-435)GCC>GTC	p.A145V	NDE1_uc010uzy.1_Missense_Mutation_p.A145V|NDE1_uc002dds.2_Missense_Mutation_p.A145V|NDE1_uc002ddu.1_Missense_Mutation_p.A82V	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	nuclear distribution gene E homolog 1	145	Interaction with PAFAH1B1 (By similarity).|Potential.				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			ovary(1)	1						TTGAATCAGGCCATCGAAAGA	0.498													T	15781279	C	T	15781279	3	4	55	1	0	0	0	0	1	0	0	0	10243	739	26	2	448	2	NDE1	16	15781279	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	8100671	15781279	74573474	1348	42696											
MYH11	4629	broad.mit.edu	37	chr16	15813528	15813528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagatctcatctctggaggCacgggcatcttccagctctc	9	13	4	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:15813528C>T	uc002ddy.2	-	35	5103	c.4996G>A	c.(4996-4998)GCC>ACC	p.A1666T	MYH11_uc002ddv.2_Missense_Mutation_p.A1673T|MYH11_uc002ddw.2_Missense_Mutation_p.A1666T|MYH11_uc002ddx.2_Missense_Mutation_p.A1673T|MYH11_uc010bvg.2_Missense_Mutation_p.A1498T|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.A372T|NDE1_uc002ddz.1_5'Flank	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1666	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						TCTCTGGAGGCACGGGCATCT	0.512			T	CBFB	AML								T	15813528	C	T	15813528	3	4	55	1	0	0	0	0	1	0	0	0	10031	710	25	2	985	2	MYH11	16	15813528	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	32249	15813528	74541225	1349	42697											
SMG1	23049	broad.mit.edu	37	chr16	18880551	18880551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctgtcttcaggagattgCgtggaattgttgactggtca	12	7	4	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:18880551C>T	uc002dfm.2	-	20	3071	c.2708G>A	c.(2707-2709)CGC>CAC	p.R903H	SMG1_uc010bwb.2_Missense_Mutation_p.R763H	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	903	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						CAGGAGATTGCGTGGAATTGT	0.468													T	18880551	C	T	18880551	3	4	55	1	0	0	0	0	1	0	0	0	14795	768	27	1	8453	1	SMG1	16	18880551	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3067023	18880551	71474202	1350	42698											
C16orf62	57020	broad.mit.edu	37	chr16	19702698	19702698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccaacgacagcctctacGggggagactccaagttcctg	10	14	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:19702698G>A	uc002dgn.1	+	29	2563	c.2551G>A	c.(2551-2553)GGG>AGG	p.G851R	C16orf62_uc002dgo.1_Missense_Mutation_p.G758R|C16orf62_uc002dgp.1_Missense_Mutation_p.G600R	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	851						integral to membrane				ovary(1)	1						CAGCCTCTACGGGGGAGACTC	0.572													A	19702698	G	A	19702698	3	1	55	1	0	0	0	0	1	0	0	0	1825	1116	39	1	2665	1	C16orf62	16	19702698	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	822147	19702698	70652055	1351	42699											
GGA2	23062	broad.mit.edu	37	chr16	23480253	23480253	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgagatatcacagctggaGgcatcaaaggactgaatgca	11	8	3	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:23480253G>T	uc002dlq.2	-	16	1761	c.1685C>A	c.(1684-1686)CCT>CAT	p.P562H		NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	ADP-ribosylation factor binding protein 2	562	GAE.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.0386)		CACAGCTGGAGGCATCAAAGG	0.507													T	23480253	G	T	23480253	3	4	55	1	0	0	0	0	1	0	0	0	6353	1000	35	5	164	5	GGA2	16	23480253	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3777555	23480253	66874500	1352	42700											
TNRC6A	27327	broad.mit.edu	37	chr16	24801392	24801392	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaataatgagctgcctAgtagtaacacaggggcctgg	13	8	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:24801392A>G	uc002dmm.2	+	6	1543	c.1429A>G	c.(1429-1431)AGT>GGT	p.S477G	TNRC6A_uc010bxs.2_Missense_Mutation_p.S224G|TNRC6A_uc010vcc.1_Missense_Mutation_p.S224G|TNRC6A_uc002dmn.2_Missense_Mutation_p.S224G|TNRC6A_uc002dmo.2_Missense_Mutation_p.S224G	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	477	Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		TGAGCTGCCTAGTAGTAACAC	0.443													G	24801392	A	G	24801392	3	3	55	1	0	0	0	0	1	0	0	0	16337	420	15	3	1451	3	TNRC6A	16	24801392	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1321139	24801392	65553361	1353	42701											
AQP8	343	broad.mit.edu	37	chr16	25232875	25232875	+	Frame_Shift_Del	DEL	G	G	-													actgggtctcacagctgctcGgggggatgctcggggctgcc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:25232874_25232874CG>C	uc002doc.3	+	2	439	c.357_357CG>C	c.(355-357)ctcfs	p.L119fs		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	119					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CACAGCTGCTCGGGGGGATGC	0.627													-	25232875	G	-	25232875	7	5	55	1	0	1	0	1	0	0	0	0	832	1116	39	0	368	0	AQP8	16	25232875	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	431483	25232875	65121878	1354	42702											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25251835	25251835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaggcctctgatgcacaaCggctttccctaaatctctag	7	12	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:25251835C>T	uc002dod.3	-	7	2613	c.2206G>A	c.(2206-2208)GTT>ATT	p.V736I	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.V532I	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	736					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		TGATGCACAACGGCTTTCCCT	0.473													T	25251835	C	T	25251835	3	4	55	1	0	0	0	0	1	0	0	0	17684	536	19	1	701	1	ZKSCAN2	16	25251835	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	18960	25251835	65102918	1355	42703											
HS3ST4	9951	broad.mit.edu	37	chr16	26147016	26147016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaatgaggctcccaagcGcattcactccatggccaagg	10	13	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:26147016G>A	uc002dof.2	+	2	1210	c.818G>A	c.(817-819)CGC>CAC	p.R273H		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	heparan sulfate D-glucosaminyl	273	Lumenal (Potential).				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			large_intestine(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.0988)		GCTCCCAAGCGCATTCACTCC	0.493													A	26147016	G	A	26147016	3	1	55	1	0	0	0	0	1	0	0	0	7367	1087	38	1	824	1	HS3ST4	16	26147016	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	895181	26147016	64207737	1356	42704											
KIAA0556	23247	broad.mit.edu	37	chr16	27761081	27761081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcagcaaaagagcagcCggcacagcgacttgcccccc	10	17	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:27761081C>T	uc002dow.2	+	16	2824	c.2800C>T	c.(2800-2802)CGG>TGG	p.R934W		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	934										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						AAAGAGCAGCCGGCACAGCGA	0.642													T	27761081	C	T	27761081	3	4	55	1	0	0	0	0	1	0	0	0	8183	643	23	1	2862	1	KIAA0556	16	27761081	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1614065	27761081	62593672	1357	42705											
XPO6	23214	broad.mit.edu	37	chr16	28164076	28164076	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgaacactcacaaagagCcgaagaaagtcagtaaactt	9	8	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:28164076C>T	uc002dpa.1	-	8	1629	c.1128G>A	c.(1126-1128)CGG>CGA	p.R376R	XPO6_uc002dpb.1_Silent_p.R362R|XPO6_uc010vcp.1_Silent_p.R376R	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	376					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						TCACAAAGAGCCGAAGAAAGT	0.393													T	28164076	C	T	28164076	2	4	55	1	0	0	0	0	0	0	0	1	17445	726	26	2		2	XPO6	16	28164076	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	402995	28164076	62190677	1358	42706											
SH2B1	25970	broad.mit.edu	37	chr16	28883208	28883209	+	Frame_Shift_Ins	INS	-	-	C													actgcttcccccagagttgcINSccccccgcatccccattgaa							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:28883207_28883208G>GC	uc002dri.3	+	7	1855_1856	c.1416_1417G>GC	c.(1414-1419)ttgcccfs	p.L472fs	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Frame_Shift_Ins_p.L162fs|SH2B1_uc002drj.3_Frame_Shift_Ins_p.L472fs|SH2B1_uc002drk.3_Frame_Shift_Ins_p.L472fs|SH2B1_uc002drl.3_Frame_Shift_Ins_p.L472fs|SH2B1_uc010vdd.2_Frame_Shift_Ins_p.L136fs|SH2B1_uc010vde.2_Frame_Shift_Ins_p.L472fs|SH2B1_uc002drm.3_Frame_Shift_Ins_p.L472fs	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	472	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCCCAGAGTTGCCCCCCCGCAT	0.629													C	28883209	-	C	28883208	7	5	55	1	0	1	1	0	0	0	0	0	14227	739	26	0	1435	0	SH2B1	16	28883208	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	719132	28883208	61471545	1359	42707											
ATP2A1	487	broad.mit.edu	37	chr16	28909569	28909569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctagggtgcccctgagggcGtcatcgaccgctgtaactat	12	13	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:28909569G>A	uc002dro.1	+	14	1745	c.1561G>A	c.(1561-1563)GTC>ATC	p.V521I	uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.V521I|ATP2A1_uc002drp.1_Missense_Mutation_p.V396I	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	521	Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CCCTGAGGGCGTCATCGACCG	0.597													A	28909569	G	A	28909569	3	1	55	1	0	0	0	0	1	0	0	0	1136	1145	40	1	1615	1	ATP2A1	16	28909569	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	26361	28909569	61445184	1360	42708											
ATP2A1	487	broad.mit.edu	37	chr16	28913640	28913641	+	Frame_Shift_Ins	INS	-	-	C													acctggacatcatggaccgcINScccccccggagccccaagga							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:28913639_28913640G>GC	uc002dro.1	+	16	2640_2641	c.2456_2457G>GC	c.(2455-2457)cgcfs	p.R819fs	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Frame_Shift_Ins_p.R819fs|ATP2A1_uc002drp.1_Frame_Shift_Ins_p.R694fs	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	819					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						ATCATGGACCGCCCCCCCCGGA	0.658													C	28913641	-	C	28913640	7	5	55	1	0	1	1	0	0	0	0	0	1136	726	26	0	2523	0	ATP2A1	16	28913640	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	4071	28913640	61441113	1361	42709											
SEPHS2	22928	broad.mit.edu	37	chr16	30455992	30455992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtccactggccttgctgaCggcagccatcttggcaatta	10	14	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:30455992C>T	uc010ves.1	-	2	1233	c.1057G>A	c.(1057-1059)GTC>ATC	p.V353I	SEPHS2_uc002dyh.1_Missense_Mutation_p.V296I|SEPHS2_uc010vet.1_Missense_Mutation_p.V235I	NM_012248	NP_036380	Q99611	SPS2_HUMAN	selenophosphate synthetase 2	353					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(2)	2						GCCTTGCTGACGGCAGCCATC	0.478													T	30455992	C	T	30455992	3	4	55	1	0	0	0	0	1	0	0	0	14055	536	19	1	293	1	SEPHS2	16	30455992	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1542352	30455992	59898761	1362	42710											
ZNF768	79724	broad.mit.edu	37	chr16	30536304	30536304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgatggctgcgcagggacGagttctggctatagcacttg	14	9	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:30536304G>A	uc002dyk.3	-	2	1333	c.1157C>T	c.(1156-1158)TCG>TTG	p.S386L	ZNF768_uc010vex.1_Missense_Mutation_p.S355L|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.S355L	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	386	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0						GCGCAGGGACGAGTTCTGGCT	0.652													A	30536304	G	A	30536304	3	1	55	1	0	0	0	0	1	0	0	0	18138	1059	37	1	469	1	ZNF768	16	30536304	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	80312	30536304	59818449	1363	42711											
SRCAP	10847	broad.mit.edu	37	chr16	30750269	30750269	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagtcggacacagccacccCcacacccatcacccctaacc	4	21	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:30750269C>A	uc002dze.1	+	34	9293	c.8908C>A	c.(8908-8910)CCA>ACA	p.P2970T	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.P2765T	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2970	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			ACAGCCACCCCCACACCCATC	0.577													A	30750269	C	A	30750269	3	1	55	1	0	0	0	0	1	0	0	0	15134	623	22	5	9034	5	SRCAP	16	30750269	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	213965	30750269	59604484	1364	42712											
SETD1A	9739	broad.mit.edu	37	chr16	30982758	30982758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtatgctgactcagatggcGaaaatgacagcacatcagac	10	9	2	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:30982758G>A	uc002ead.1	+	13	3762	c.3076G>A	c.(3076-3078)GAA>AAA	p.E1026K		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1026	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						CTCAGATGGCGAAAATGACAG	0.393													A	30982758	G	A	30982758	3	1	55	1	0	0	0	0	1	0	0	0	14130	1059	37	1	3122	1	SETD1A	16	30982758	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	232489	30982758	59371995	1365	42713											
ZNF646	9726	broad.mit.edu	37	chr16	31091411	31091411	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcatccatgcagatcccCgacgtttccgctgcagcgag	12	15	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:31091411C>T	uc002eap.2	+	2	4055	c.3766C>T	c.(3766-3768)CGA>TGA	p.R1256*		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						TGCAGATCCCCGACGTTTCCG	0.652													T	31091411	C	T	31091411	4	4	55	1	0	0	0	0	0	1	0	0	18059	644	23	1	3768	1	ZNF646	16	31091411	Nonsense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	108653	31091411	59263342	1366	42714											
ZNF646	9726	broad.mit.edu	37	chr16	31092651	31092651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagcggtgacgtccatggCggctgaggacaaggagcggc	17	10	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:31092651C>T	uc002eap.2	+	2	5295	c.5006C>T	c.(5005-5007)GCG>GTG	p.A1669V		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1669					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						ACGTCCATGGCGGCTGAGGAC	0.667													T	31092651	C	T	31092651	3	4	55	1	0	0	0	0	1	0	0	0	18059	768	27	1	5008	1	ZNF646	16	31092651	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1240	31092651	59262102	1367	42715											
FUS	2521	broad.mit.edu	37	chr16	31195533	31195533	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtttgttttccctagttaCggtagcagttctcagagcag	10	8	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:31195533C>T	uc002ebf.2	+	5	422	c.339C>T	c.(337-339)TAC>TAT	p.Y113Y	FUS_uc002ebe.1_Silent_p.Y113Y|FUS_uc002ebh.2_Silent_p.Y112Y|FUS_uc002ebg.2_Translation_Start_Site|FUS_uc002ebi.2_Silent_p.Y113Y|FUS_uc002ebj.2_Translation_Start_Site|FUS_uc002ebk.1_5'Flank	NM_004960	NP_004951	P35637	FUS_HUMAN	fusion (involved in t(12;16) in malignant	113	Gln/Gly/Ser/Tyr-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/DDIT3(623)|FUS/ERG(163)|FUS/CREB3L2(158)|FUS/CREB3L1(6)|FUS/ATF1(4)|FUS/FEV(2)	soft_tissue(791)|haematopoietic_and_lymphoid_tissue(153)|bone(12)|breast(2)	958		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TCCCTAGTTACGGTAGCAGTT	0.507			T	DDIT3|ERG|FEV|ATF1|CREB3L2|CREB3L1	liposarcoma|AML|Ewing sarcoma|angiomatoid fibrous histiocytoma|fibromyxoid sarcoma								T	31195533	C	T	31195533	2	4	55	1	0	0	0	0	0	0	0	1	6100	547	19	1		1	FUS	16	31195533	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	102882	31195533	59159220	1368	42716											
PYDC1	260434	broad.mit.edu	37	chr16	31228091	31228091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtggccctcacgcagcccGctgcagccgtgcggcctcct	13	18	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:31228091G>A	uc002ebo.2	-	1	308	c.259C>T	c.(259-261)CGG>TGG	p.R87W	TRIM72_uc002ebn.1_Intron	NM_152901	NP_690865	Q8WXC3	PYDC1_HUMAN	pyrin domain containing 1	87	DAPIN.				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding				0						CACGCAGCCCGCTGCAGCCGT	0.677													A	31228091	G	A	31228091	3	1	55	1	0	0	0	0	1	0	0	0	12858	1086	38	1	14	1	PYDC1	16	31228091	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	32558	31228091	59126662	1369	42717											
ADCY7	113	broad.mit.edu	37	chr16	50342322	50342322	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctttgccaccaagttctcGgtaagtggggagctctggcc	13	11	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:50342322G>A	uc002egd.1	+	15	2203	c.1935G>A	c.(1933-1935)TCG>TCA	p.S645S	ADCY7_uc002egc.1_Silent_p.S645S	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	645					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CCAAGTTCTCGGTAAGTGGGG	0.682													A	50342322	G	A	50342322	2	1	55	1	0	0	0	0	0	0	0	1	299	1130	39	1		1	ADCY7	16	50342322	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	19114231	50342322	40012431	1370	42718											
ADCY7	113	broad.mit.edu	37	chr16	50346848	50346848	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtgtcatgtttgcctcCgtgccggacttcaaagtgtt	11	10	3	0	rs143161770		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:50346848C>T	uc002egd.1	+	21	2920	c.2652C>T	c.(2650-2652)TCC>TCT	p.S884S		NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	884	Cytoplasmic (Potential).|Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGTTTGCCTCCGTGCCGGACT	0.532													T	50346848	C	T	50346848	2	4	55	1	0	0	0	0	0	0	0	1	299	639	23	1		1	ADCY7	16	50346848	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	4526	50346848	40007905	1371	42719											
BRD7	29117	broad.mit.edu	37	chr16	50354205	50354205	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccaagagacagatcatgttCggagggggtctggtgctcaa	14	9	3	2	rs148031885	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:50354205C>T	uc002egf.1	-	16	1777	c.1710G>A	c.(1708-1710)CCG>CCA	p.P570P	BRD7_uc002ege.1_Silent_p.P571P	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	bromodomain containing 7	570					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding				0		all_cancers(37;0.0127)				AGATCATGTTCGGAGGGGGTC	0.468													T	50354205	C	T	50354205	2	4	55	1	0	0	0	0	0	0	0	1	1505	871	31	1		1	BRD7	16	50354205	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	7357	50354205	40000548	1372	42720											
NKD1	85407	broad.mit.edu	37	chr16	50667135	50667136	+	Frame_Shift_Ins	INS	-	-	C													ggcccagaagtcagaactgcINSccccccgcacctccaatccc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:50667134_50667135G>GC	uc002egg.2	+	9	1079_1080	c.855_856G>GC	c.(853-858)ctgcccfs	p.L285fs		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	285					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599													C	50667136	-	C	50667135	7	5	55	1	0	1	1	0	0	0	0	0	10441	739	26	0	894	0	NKD1	16	50667135	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	312930	50667135	39687618	1373	42721											
CHD9	80205	broad.mit.edu	37	chr16	53276875	53276875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattattgatgaagcacatAggttaaaaaataaaaattgt	7	2	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:53276875A>G	uc002ehb.2	+	12	3165	c.3001A>G	c.(3001-3003)AGG>GGG	p.R1001G	CHD9_uc002egy.2_Missense_Mutation_p.R1001G|CHD9_uc002eha.1_Missense_Mutation_p.R1001G|CHD9_uc002ehc.2_Missense_Mutation_p.R1001G|CHD9_uc002ehf.2_Missense_Mutation_p.R115G|CHD9_uc002ehd.2_Missense_Mutation_p.R527G|CHD9_uc002ehe.1_Missense_Mutation_p.R115G	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1001	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				TGAAGCACATAGGTTAAAAAA	0.338													G	53276875	A	G	53276875	3	3	55	1	0	0	0	0	1	0	0	0	3332	411	15	3	3047	3	CHD9	16	53276875	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	2609740	53276875	37077878	1374	42722											
AMFR	267	broad.mit.edu	37	chr16	56419830	56419830	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcagctagcagaccttaCcattgcattgagctgggagt	11	9	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:56419830C>T	uc002eiy.2	-	10	1585	c.1380_splice	c.e10+1	p.M460_splice	AMFR_uc002eix.2_Splice_Site_p.M94_splice	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor						endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)	2						GCAGACCTTACCATTGCATTG	0.502													T	56419830	C	T	56419830	5	4	55	1	0	0	0	0	0	0	1	0	571	521	18	4	570	4	AMFR	16	56419830	Splice_Site	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3142955	56419830	33934923	1375	42723											
NLRC5	84166	broad.mit.edu	37	chr16	57100498	57100498	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agctggaatttcctcgccagGaagagaatccagaagctgtg	12	9	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:57100498G>T	uc002ekk.1	+	34	4519	c.4294G>T	c.(4294-4296)GAA>TAA	p.E1432*	NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Nonsense_Mutation_p.E319*	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	1432					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				TCCTCGCCAGGAAGAGAATCC	0.622													T	57100498	G	T	57100498	4	4	55	1	0	0	0	0	0	1	0	0	10470	1175	41	5	4420	5	NLRC5	16	57100498	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	680668	57100498	33254255	1376	42724											
NLRC5	84166	broad.mit.edu	37	chr16	57111659	57111659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatagcatcagctcagccGggggagtgcagttggcagag	17	8	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:57111659G>A	uc002ekk.1	+	42	5173	c.4948G>A	c.(4948-4950)GGG>AGG	p.G1650R	NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekq.1_Missense_Mutation_p.G192R|NLRC5_uc002ekr.1_Missense_Mutation_p.G537R	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	1650	LRR 21.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				CAGCTCAGCCGGGGGAGTGCA	0.642													A	57111659	G	A	57111659	3	1	55	1	0	0	0	0	1	0	0	0	10470	1116	39	1	5106	1	NLRC5	16	57111659	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	11161	57111659	33243094	1377	42725											
NLRC5	84166	broad.mit.edu	37	chr16	57113198	57113201	+	Frame_Shift_Del	DEL	AGAT	AGAT	-													ggagctcccgctgctcagacAgatagagtaagtagcctccc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:57113197_57113200CAGAT>C	uc021tiu.1	+	43	5357_5360	c.5230_5233CAGAT>C	c.(5230-5235)cagatafs	p.Q1744fs	NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_Frame_Shift_Del_p.Q286fs|NLRC5_uc002ekr.1_Frame_Shift_Del_p.Q631fs	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1744					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCTGCTCAGACAGATAGAGTAAGT	0.598													-	57113201	AGAT	-	57113198	7	5	55	1	0	1	0	1	0	0	0	0	10470	188	7	0	5401	0	NLRC5	16	57113198	Frame_Shift_Del	DEL	AGAT	TCGA-BR-7851-01A-11D-2201-08	1539	57113198	33241555	1378	42726											
CNOT1	23019	broad.mit.edu	37	chr16	58581543	58581543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagttcttcagcaaagaaCgatctgagaaattggctgca	9	9	3	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:58581543C>T	uc002env.2	-	26	3859	c.3566G>A	c.(3565-3567)CGT>CAT	p.R1189H	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.R1184H|CNOT1_uc002enx.2_Missense_Mutation_p.R1189H|CNOT1_uc010vik.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1189					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAGCAAAGAACGATCTGAGAA	0.358													T	58581543	C	T	58581543	3	4	55	1	0	0	0	0	1	0	0	0	3617	536	19	1	3882	1	CNOT1	16	58581543	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1468345	58581543	31773210	1379	42727											
CDH8	1006	broad.mit.edu	37	chr16	61688000	61688000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagttacaaacagcaccaCgatgactagaggaaaaatat	8	7	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:61688000C>T	uc002eog.1	-	12	2164	c.1912G>A	c.(1912-1914)GTG>ATG	p.V638M		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	638	Helical; (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AACAGCACCACGATGACTAGA	0.358													T	61688000	C	T	61688000	3	4	55	1	0	0	0	0	1	0	0	0	3116	536	19	1	491	1	CDH8	16	61688000	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3106457	61688000	28666753	1380	42728											
CDH16	1014	broad.mit.edu	37	chr16	66943992	66943992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaggtgaggtaggcatgGgaaccttttgggacagcagg	17	7	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:66943992G>A	uc002eql.2	-	16	2245	c.2172C>T	c.(2170-2172)TCC>TCT	p.S724S	CDH16_uc010cdy.2_Silent_p.S702S|CDH16_uc002eqm.2_Silent_p.S627S	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	724	Extracellular (Potential).|Ectodomain G.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GGTAGGCATGGGAACCTTTTG	0.622													A	66943992	G	A	66943992	2	1	55	1	0	0	0	0	0	0	0	1	3101	1219	43	4		4	CDH16	16	66943992	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5255992	66943992	23410761	1381	42729											
ELMO3	79767	broad.mit.edu	37	chr16	67236560	67236560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgcgggagcagctggccCgcactctggccctgaagccc	15	15	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:67236560C>T	uc002esa.2	+	15	1631	c.1588C>T	c.(1588-1590)CGC>TGC	p.R530C	ELMO3_uc002esb.2_Missense_Mutation_p.R513C|ELMO3_uc002esc.2_Missense_Mutation_p.R364C|uc010vjf.1_5'Flank|MIR328_hsa-mir-328|MI0000804_5'Flank	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	477	ELMO.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GCAGCTGGCCCGCACTCTGGC	0.662													T	67236560	C	T	67236560	3	4	55	1	0	0	0	0	1	0	0	0	5067	652	23	1	1646	1	ELMO3	16	67236560	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	292568	67236560	23118193	1382	42730											
LRRC36	55282	broad.mit.edu	37	chr16	67410682	67410682	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcccggctccttctcagccGaggtgttgctcacatcctga	10	15	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:67410682G>A	uc002esv.2	+	11	1732	c.1713G>A	c.(1711-1713)CCG>CCA	p.P571P	LRRC36_uc002esw.2_RNA|LRRC36_uc002esx.2_Silent_p.P450P|LRRC36_uc010vjk.1_Intron|LRRC36_uc010vjl.1_Intron|LRRC36_uc002esy.2_Silent_p.P81P	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36 isoform 1	571											0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CTTCTCAGCCGAGGTGTTGCT	0.527													A	67410682	G	A	67410682	2	1	55	1	0	0	0	0	0	0	0	1	8990	1045	37	1		1	LRRC36	16	67410682	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	174122	67410682	22944071	1383	42731											
FAM65A	79567	broad.mit.edu	37	chr16	67576629	67576629	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tacaagtcctacccccagtgGtatgggcctagtccagactg	10	13	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:67576629G>C	uc010vjp.1	+	13	2096	c.2000G>C	c.(1999-2001)GGT>GCT	p.G667A	FAM65A_uc010cei.1_Missense_Mutation_p.G489A|FAM65A_uc002eth.2_Missense_Mutation_p.G647A|FAM65A_uc010cej.2_Missense_Mutation_p.G650A|FAM65A_uc002eti.1_Missense_Mutation_p.G610A|FAM65A_uc010vjq.1_Missense_Mutation_p.G661A|FAM65A_uc002etj.1_Missense_Mutation_p.G646A|FAM65A_uc002etk.2_Missense_Mutation_p.G646A	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	651	Pro-rich.					cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		ACCCCCAGTGGTATGGGCCTA	0.562													C	67576629	G	C	67576629	3	2	55	1	0	0	0	0	1	0	0	0	5599	1261	44	5	1986	5	FAM65A	16	67576629	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	165947	67576629	22778124	1384	42732											
C16orf48	84080	broad.mit.edu	37	chr16	67697400	67697400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggcatggcagggtccGgctggctctgcttgcgggcc	19	12	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:67697400G>A	uc002etw.1	-	6	1086	c.803C>T	c.(802-804)CCG>CTG	p.P268L	ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|C16orf48_uc002etv.1_Missense_Mutation_p.P150L|C16orf48_uc010cem.1_Silent_p.A213A	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN	hypothetical protein LOC84080	268						microtubule cytoskeleton	protein binding				0		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGCAGGGTCCGGCTGGCTCTG	0.662													A	67697400	G	A	67697400	3	1	55	1	0	0	0	0	1	0	0	0	1816	1116	39	1	245	1	C16orf48	16	67697400	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	120771	67697400	22657353	1385	42733											
CTRL	1506	broad.mit.edu	37	chr16	67964403	67964403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcaaactggcgagatgCgtgttgtgtactgggctggc	16	9	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:67964403C>T	uc002euw.2	-	5	417	c.407G>A	c.(406-408)CGC>CAC	p.R136H		NM_001907	NP_001898	P40313	CTRL_HUMAN	chymotrypsin-like precursor	136	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		TGGCGAGATGCGTGTTGTGTA	0.602													T	67964403	C	T	67964403	3	4	55	1	0	0	0	0	1	0	0	0	4028	768	27	1	399	1	CTRL	16	67964403	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	267003	67964403	22390350	1386	42734											
LCAT	3931	broad.mit.edu	37	chr16	67974268	67974268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggtgtggaaatgaacaCgtggtcctcaggccacgcca	14	11	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:67974268C>T	uc002euy.1	-	6	873	c.862G>A	c.(862-864)GTG>ATG	p.V288M		NM_000229	NP_000220	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase precursor	288					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GAAATGAACACGTGGTCCTCA	0.557													T	67974268	C	T	67974268	3	4	55	1	0	0	0	0	1	0	0	0	8658	536	19	1	464	1	LCAT	16	67974268	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	9865	67974268	22380485	1387	42735											
TMCO7	79613	broad.mit.edu	37	chr16	68941368	68941368	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgaagatgaagatgaagccCtgtaccagaaggtatcctct	10	8	1	6			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:68941368C>A	uc002ewi.3	+	10	1702	c.1690C>A	c.(1690-1692)CTG>ATG	p.L564M		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	564						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		AGATGAAGCCCTGTACCAGAA	0.468													A	68941368	C	A	68941368	3	1	55	1	0	0	0	0	1	0	0	0	15998	680	24	5	1728	5	TMCO7	16	68941368	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	967100	68941368	21413385	1388	42736											
FUK	197258	broad.mit.edu	37	chr16	70505166	70505166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcatggccgggagctgCgtgaccttgtcctgcaggga	15	13	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:70505166C>T	uc002eyy.2	+	13	1310	c.1252C>T	c.(1252-1254)CGT>TGT	p.R418C	FUK_uc010cft.2_Missense_Mutation_p.R450C|FUK_uc002eyz.2_5'UTR	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	418						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)				CCGGGAGCTGCGTGACCTTGT	0.672													T	70505166	C	T	70505166	3	4	55	1	0	0	0	0	1	0	0	0	6096	768	27	1	1298	1	FUK	16	70505166	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1563798	70505166	19849587	1389	42737											
FTSJD1	55783	broad.mit.edu	37	chr16	71318067	71318067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttgatattacggagagtcGaaaagcccaccagcaggcac	10	10	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:71318067G>A	uc010cga.2	-	3	2163	c.1757C>T	c.(1756-1758)TCG>TTG	p.S586L	FTSJD1_uc002ezy.3_Missense_Mutation_p.S586L|FTSJD1_uc002ezz.3_Missense_Mutation_p.S586L	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN	FtsJ methyltransferase domain containing 1	586						integral to membrane	methyltransferase activity|nucleic acid binding			skin(1)	1						ACGGAGAGTCGAAAAGCCCAC	0.433													A	71318067	G	A	71318067	3	1	55	1	0	0	0	0	1	0	0	0	6090	1059	37	1	559	1	FTSJD1	16	71318067	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	812901	71318067	19036686	1390	42738											
PHLPP2	23035	broad.mit.edu	37	chr16	71748635	71748635	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacatcttctcttagccagtCtctttctcgagaaccaaacc	4	14	4	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:71748635C>T	uc002fax.2	-	1	70	c.64G>A	c.(64-66)GAC>AAC	p.D22N	PHLPP2_uc010cgf.2_Missense_Mutation_p.D22N|PHLPP2_uc002fay.1_Missense_Mutation_p.D22N	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	22						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						CTTAGCCAGTCTCTTTCTCGA	0.363													T	71748635	C	T	71748635	3	4	55	1	0	0	0	0	1	0	0	0	11855	913	32	4	3979	4	PHLPP2	16	71748635	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	430568	71748635	18606118	1391	42739											
ZFHX3	463	broad.mit.edu	37	chr16	72822586	72822587	+	Frame_Shift_Ins	INS	-	-	G													tgctgctgctgctgctgctgINSggggggttgctgagggccca					rs66799632		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:72822585_72822586T>TG	uc002fck.3	-	9	10262_10263	c.9589_9590A>CA	c.(9589-9591)cagfs	p.Q3197fs	ZFHX3_uc002fcl.3_Frame_Shift_Ins_p.Q2283fs	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3197	Poly-Gln.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ctgctgctgctgGGGGGGTTGC	0.658													G	72822587	-	G	72822586	7	5	55	1	0	1	1	0	0	0	0	0	17631	1357	47	0	1526	0	ZFHX3	16	72822586	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	1073951	72822586	17532167	1392	42740											
PKD1L2	114780	broad.mit.edu	37	chr16	81167281	81167281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catccctgctgctgtttcttCgtgctcggaacaaggcatag	10	12	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:81167281C>T	uc002fgh.1	-	35	5744	c.5744G>A	c.(5743-5745)CGA>CAA	p.R1915Q	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1915	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GCTGTTTCTTCGTGCTCGGAA	0.562													T	81167281	C	T	81167281	3	4	55	1	0	0	0	0	1	0	0	0	11965	884	31	1	1674	1	PKD1L2	16	81167281	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	8344695	81167281	9187472	1393	42741											
BANP	54971	broad.mit.edu	37	chr16	88061178	88061178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgccgcacggcgtggcggCgcaagcagcggggccagagc	19	13	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:88061178C>T	uc002fkr.2	+	8	1182	c.958C>T	c.(958-960)CGC>TGC	p.R320C	BANP_uc002fkp.2_Missense_Mutation_p.R290C|BANP_uc002fkq.2_Missense_Mutation_p.R290C|BANP_uc010vow.1_Missense_Mutation_p.R328C|BANP_uc002fks.3_Missense_Mutation_p.R289C|BANP_uc002fko.1_Missense_Mutation_p.R226C|BANP_uc010vov.1_Missense_Mutation_p.R295C	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein isoform b	321	Necessary and sufficient for TP53 activation (By similarity).|Interaction with CUX1 and HDAC1 (By similarity).|BEN.				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GGCGTGGCGGCGCAAGCAGCG	0.592													T	88061178	C	T	88061178	3	4	55	1	0	0	0	0	1	0	0	0	1310	768	27	1	1029	1	BANP	16	88061178	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	6893897	88061178	2293575	1394	42742											
SNAI3	333929	broad.mit.edu	37	chr16	88747890	88747890	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggctgtctttgaggggTacaatggcggcccggctggc	16	10	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:88747890T>C	uc002flj.2	-	2	377	c.309A>G	c.(307-309)GTA>GTG	p.V103V	MGC23284_uc002fli.3_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	snail homolog 3	103					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.048)		CTTTGAGGGGTACAATGGCGG	0.697													C	88747890	T	C	88747890	2	2	55	1	0	0	0	0	0	0	0	1	14828	1625	57	3		3	SNAI3	16	88747890	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	686712	88747890	1606863	1395	42743											
ANKRD11	29123	broad.mit.edu	37	chr16	89349641	89349642	+	Frame_Shift_Ins	INS	-	-	T													ctttgcctttcttgtcatctINStttttttcagagaagtcttc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:89349640_89349641C>CT	uc002fmx.1	-	8	3770_3771	c.3309_3310G>AG	c.(3307-3312)aaagatfs	p.K1103fs	ANKRD11_uc002fmy.1_Frame_Shift_Ins_p.K1103fs|ANKRD11_uc002fnc.1_Frame_Shift_Ins_p.K1103fs|ANKRD11_uc002fnb.1_Frame_Shift_Ins_p.K1060fs	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1103	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTTGTCATCTTTTTTTTCAG	0.465													T	89349642	-	T	89349641	7	5	55	1	0	1	1	0	0	0	0	0	639	1606	56	0	4702	0	ANKRD11	16	89349641	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	601751	89349641	1005112	1396	42744											
FAM57A	79850	broad.mit.edu	37	chr17	644552	644552	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctattgcagctaaagcagcaGcacacccttctgtacaaggt	8	12	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:644552G>A	uc002frp.2	+	5	557	c.516G>A	c.(514-516)CAG>CAA	p.Q172Q	FAM57A_uc002frq.2_Silent_p.Q140Q|FAM57A_uc002frr.2_Silent_p.Q82Q	NM_024792	NP_079068	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	172	TLC.					integral to membrane|plasma membrane					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TAAAGCAGCAGCACACCCTTC	0.547													A	644552	G	A	644552	2	1	55	1	0	0	0	0	0	0	0	1	5588	962	34	2		2	FAM57A	17	644552	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08		644552	80550658	1397	42745											
RNMTL1	55178	broad.mit.edu	37	chr17	686479	686479	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tacctaaaggagttgccagtCgataagctgaaaggtgtcag	12	7	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:686479C>A	uc002frw.2	+	2	577	c.471C>A	c.(469-471)GTC>GTA	p.V157V	GLOD4_uc002fru.2_5'Flank|GLOD4_uc010vqc.1_5'Flank|GLOD4_uc002frv.2_5'Flank	NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	157					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		AGTTGCCAGTCGATAAGCTGA	0.463													A	686479	C	A	686479	2	1	55	1	0	0	0	0	0	0	0	1	13507	871	31	5		5	RNMTL1	17	686479	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	41927	686479	80508731	1398	42746											
SCARF1	8578	broad.mit.edu	37	chr17	1542125	1542125	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttgaggtctgatcggggggCccagcagcagcaggcacagc	16	12	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:1542125C>G	uc002fsz.1	-	8	1389	c.1339G>C	c.(1339-1341)GCC>CCC	p.A447P	SCARF1_uc002fsy.1_Missense_Mutation_p.A447P|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.A361P	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	447	Cytoplasmic (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GATCGGGGGGCCCAGCAGCAG	0.667													G	1542125	C	G	1542125	3	3	55	1	0	0	0	0	1	0	0	0	13883	739	26	5	1169	5	SCARF1	17	1542125	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	855646	1542125	79653085	1399	42747											
SMG6	23293	broad.mit.edu	37	chr17	2200609	2200609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttgaacttgtaagtaacCtgcagcttctgaagcaaact	8	8	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:2200609C>T	uc002fub.1	-	4	2134	c.2079G>A	c.(2077-2079)CAG>CAA	p.Q693Q		NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	693					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4						TGTAAGTAACCTGCAGCTTCT	0.368													T	2200609	C	T	2200609	2	4	55	1	0	0	0	0	0	0	0	1	14797	680	24	4		4	SMG6	17	2200609	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	658484	2200609	78994601	1400	42748											
SGSM2	9905	broad.mit.edu	37	chr17	2282421	2282421	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgtcctgttcatcgccctCgccctggtggaggcctaccg	11	15	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:2282421C>T	uc002fun.3	+	22	3031	c.2856C>T	c.(2854-2856)CTC>CTT	p.L952L	SGSM2_uc002fum.3_Silent_p.L997L|SGSM2_uc010vqw.1_Silent_p.L952L|SGSM2_uc002fup.1_Silent_p.L130L|SGSM2_uc002fuq.2_Silent_p.L114L	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	952						intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TCATCGCCCTCGCCCTGGTGG	0.537													T	2282421	C	T	2282421	2	4	55	1	0	0	0	0	0	0	0	1	14223	871	31	1		1	SGSM2	17	2282421	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	81812	2282421	78912789	1401	42749											
RABEP1	9135	broad.mit.edu	37	chr17	5250183	5250183	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcagaaatctgttctacaGgaagatgctgagaaactgcg	10	8	3	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:5250183G>A	uc002gbm.3	+	6	971	c.747G>A	c.(745-747)CAG>CAA	p.Q249Q	RABEP1_uc010clc.1_Silent_p.Q249Q|RABEP1_uc010cld.1_Silent_p.Q206Q|RABEP1_uc010vsw.1_Silent_p.Q206Q|RABEP1_uc002gbl.3_Silent_p.Q249Q	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	249	Potential.				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2						CTGTTCTACAGGAAGATGCTG	0.333													A	5250183	G	A	5250183	2	1	55	1	0	0	0	0	0	0	0	1	12961	991	35	4		4	RABEP1	17	5250183	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2967762	5250183	75945027	1402	42750											
AIPL1	23746	broad.mit.edu	37	chr17	6331701	6331701	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagctcgtccaggtcctcGtagcccagcgtgtggtaggc	14	13	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:6331701G>A	uc002gcp.2	-	3	497	c.402C>T	c.(400-402)TAC>TAT	p.Y134Y	AIPL1_uc002gcq.2_Silent_p.Y74Y|AIPL1_uc002gcr.2_Intron|AIPL1_uc010clk.2_Silent_p.Y112Y|AIPL1_uc010cll.2_Silent_p.Y134Y|AIPL1_uc002gcs.2_Silent_p.Y134Y	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting	134	PPIase FKBP-type.				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding				0				COAD - Colon adenocarcinoma(228;0.141)		CCAGGTCCTCGTAGCCCAGCG	0.662													A	6331701	G	A	6331701	2	1	55	1	0	0	0	0	0	0	0	1	436	1140	40	1		1	AIPL1	17	6331701	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1081518	6331701	74863509	1403	42751											
PITPNM3	83394	broad.mit.edu	37	chr17	6380417	6380417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagtcgctctgtttccgCggcaacggcctcttgggctc	14	13	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:6380417C>T	uc002gdd.3	-	9	1168	c.1017G>A	c.(1015-1017)CCG>CCA	p.P339P	PITPNM3_uc010cln.2_Silent_p.P303P|PITPNM3_uc002gdc.3_5'UTR	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	339					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TCTGTTTCCGCGGCAACGGCC	0.582													T	6380417	C	T	6380417	2	4	55	1	0	0	0	0	0	0	0	1	11952	755	27	1		1	PITPNM3	17	6380417	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	48716	6380417	74814793	1404	42752											
KIAA0753	9851	broad.mit.edu	37	chr17	6510506	6510506	+	Frame_Shift_Del	DEL	T	T	-													gaagcaaatatttacctctgTttttgcatgctgtcaatttc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:6510505_6510505GT>G	uc002gde.4	-	10	2274	c.1915_1915AC>C	c.(1915-1917)cagfs	p.Q639fs	KIAA0753_uc010vtd.2_Frame_Shift_Del_p.Q95fs|KIAA0753_uc010clo.3_Frame_Shift_Del_p.Q340fs|KIAA0753_uc010vte.2_Frame_Shift_Del_p.Q340fs	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	639						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		ATTTACCTCTGTTTTTGCATG	0.373													-	6510506	T	-	6510506	7	5	55	1	0	1	0	1	0	0	0	0	8191	1722	60	0	1025	0	KIAA0753	17	6510506	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	130089	6510506	74684704	1405	42753											
C17orf49	124944	broad.mit.edu	37	chr17	6918391	6918393	+	In_Frame_Del	DEL	TCT	TCT	-													ccgcccccaggtcggagagaTcttctcggcggccggcgccg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:6918391_6918393delTCT	uc002gec.2	+	4	932_934	c.32_34delTCT	c.(31-36)ATCTTC>ATC	p.F12del	uc002gdy.1_5'Flank|C17orf49_uc002geb.3_In_Frame_Del_p.F73del|C17orf49_uc002ged.2_In_Frame_Del_p.F12del|C17orf49_uc002gee.2_In_Frame_Del_p.F12del|C17orf49_uc010vti.1_In_Frame_Del_p.F12del	NM_174893	NP_777553	Q8IXM2	BAP18_HUMAN	hypothetical protein LOC124944 isoform 2	12					chromatin modification	MLL1 complex|NURF complex	DNA binding			large_intestine(1)	1						GTCGGAGAGATCTTCTCGGCGGC	0.458													-	6918393	TCT	-	6918391	7	5	55	1	0	1	0	1	0	0	0	0	1860	1435	50	0	38	0	C17orf49	17	6918391	In_Frame_Del	DEL	TCT	TCGA-BR-7851-01A-11D-2201-08	407885	6918391	74276819	1406	42754											
DVL2	1856	broad.mit.edu	37	chr17	7133463	7133463	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccagattctcatggctgctgGacacattagggctggacagg	13	10	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:7133463G>T	uc002gez.1	-	4	704	c.422C>A	c.(421-423)TCC>TAC	p.S141Y	DVL2_uc010vtr.1_Intron|DVL2_uc010vts.1_Missense_Mutation_p.S43Y|DVL2_uc010clz.1_Missense_Mutation_p.S141Y	NM_004422	NP_004413	O14641	DVL2_HUMAN	dishevelled 2	141					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			lung(1)|kidney(1)	2						ATGGCTGCTGGACACATTAGG	0.597													T	7133463	G	T	7133463	3	4	55	1	0	0	0	0	1	0	0	0	4836	1174	41	5	1836	5	DVL2	17	7133463	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	215072	7133463	74061747	1407	42755											
C17orf74	201243	broad.mit.edu	37	chr17	7329696	7329696	+	Missense_Mutation	SNP	G	G	A													ctgtgttcgtcgccgccgccGccgccaccgccgttgtcgcc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:7329696G>A	uc002ggw.2	+	3	459	c.386G>A	c.(385-387)CGC>CAC	p.R129H	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	129	Arg-rich.					integral to membrane					0		Prostate(122;0.157)				cgccgccgccgccgccaccgc	0.413													A	7329696	G	A	7329696	3	1	55	1	0	0	0	0	1	0	0	0	1879	1087	38	1	396	1	C17orf74	17	7329696	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	196233	7329696	73865514	1408	42756	148	2									
C17orf74	201243	broad.mit.edu	37	chr17	7329702	7329702	+	Missense_Mutation	SNP	A	A	G													tcgtcgccgccgccgccgccAccgccgttgtcgccgtcgct					rs113604978		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:7329702A>G	uc002ggw.2	+	3	465	c.392A>G	c.(391-393)CAC>CGC	p.H131R	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	131	Arg-rich.					integral to membrane					0		Prostate(122;0.157)				cgccgccgccaccgccgttgt	0.423													G	7329702	A	G	7329702	3	3	55	1	0	0	0	0	1	0	0	0	1879	159	6	3	402	3	C17orf74	17	7329702	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	6	7329702	73865508	1409	42757	148	2									
ZBTB4	57659	broad.mit.edu	37	chr17	7366339	7366340	+	In_Frame_Ins	INS	-	-	TCC													cctccccaccagcctttgatINStcctcctcatcctcctcctc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:7366339_7366340insTCC	uc002ghc.3	-	4	2211_2212	c.1961_1962insGGA	c.(1960-1962)GAA>GAGGAA	p.654_654E>EE	ZBTB4_uc002ghd.3_In_Frame_Ins_p.654_654E>EE	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	654	Glu-rich.|Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CAGCCTTTGATtcctcctcatc	0.411													TCC	7366340	-	TCC	7366339	7	5	55	1	0	1	1	0	0	0	0	0	17538	1490	52	0	1083	0	ZBTB4	17	7366339	In_Frame_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	36637	7366339	73828871	1410	42758	149	2									
ZBTB4	57659	broad.mit.edu	37	chr17	7366340	7366341	+	In_Frame_Ins	INS	-	-	TCC													ctccccaccagcctttgattINScctcctcatcctcctcctcc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:7366339_7366340T>TTCC	uc002ghc.4	-	3	2211_2212	c.1961_1962A>GGAA	c.(1960-1962)gaa>gGGAA	p.E654G	ZBTB4_uc002ghd.4_In_Frame_Ins_p.E654G	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	654	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CAGCCTTTGATtcctcctcatc	0.619													TCC	7366341	-	TCC	7366340	7	5	55	1	0	1	1	0	0	0	0	0	17538	1783	62	0	1084	0	ZBTB4	17	7366340	In_Frame_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	1	7366340	73828870	1411	42759	149	2									
POLR2A	5430	broad.mit.edu	37	chr17	7402445	7402445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgatggggcatcgggtcCgcattctcccatggtctacc	11	14	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:7402445C>T	uc002ghf.3	+	9	1657	c.1423C>T	c.(1423-1425)CGC>TGC	p.R475C	POLR2A_uc002ghe.2_Missense_Mutation_p.R475C	NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	475					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)				GCATCGGGTCCGCATTCTCCC	0.567													T	7402445	C	T	7402445	3	4	55	1	0	0	0	0	1	0	0	0	12214	652	23	1	1457	1	POLR2A	17	7402445	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	36105	7402445	73792765	1412	42760											
SENP3	26168	broad.mit.edu	37	chr17	7469041	7469041	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttctccccaggtgatgaAcatgtatggagacctggtca	10	10	3	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:7469041A>G	uc002ghm.2	+	6	1496	c.1223A>G	c.(1222-1224)AAC>AGC	p.N408S	EIF4A1_uc002gho.1_5'UTR|SENP3_uc002ghn.1_3'UTR	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific protease 3	408	Protease.				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			ovary(1)|central_nervous_system(1)	2		Prostate(122;0.157)				CAGGTGATGAACATGTATGGA	0.562													G	7469041	A	G	7469041	3	3	55	1	0	0	0	0	1	0	0	0	14048	43	2	3	1241	3	SENP3	17	7469041	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	66596	7469041	73726169	1413	42761											
EFNB3	1949	broad.mit.edu	37	chr17	7612856	7612857	+	Frame_Shift_Ins	INS	-	-	C													gtatatcgtgcaggatgggcINSccccccagagccctccaaac							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:7612855_7612856G>GC	uc002gis.3	+	4	1381_1382	c.984_985G>GC	c.(982-987)gggcccfs	p.G328fs		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	328					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCAGGATGGGCCCCCCCAGAG	0.574													C	7612857	-	C	7612856	7	5	55	1	0	1	1	0	0	0	0	0	4957	739	26	0	1003	0	EFNB3	17	7612856	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	143815	7612856	73582354	1414	42762											
CHD3	1107	broad.mit.edu	37	chr17	7794347	7794347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaggaggattaccacacGctcaccaactacaaagcctt	7	13	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:7794347G>A	uc002gje.2	+	4	624	c.474G>A	c.(472-474)ACG>ACA	p.T158T	CHD3_uc002gjd.2_Silent_p.T217T|CHD3_uc002gjf.2_Silent_p.T158T|CHD3_uc002gjg.1_5'UTR	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	158					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				ATTACCACACGCTCACCAACT	0.473													A	7794347	G	A	7794347	2	1	55	1	0	0	0	0	0	0	0	1	3326	1074	38	1		1	CHD3	17	7794347	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	181491	7794347	73400863	1415	42763											
AURKB	9212	broad.mit.edu	37	chr17	8108286	8108286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggccaggggcagccgttccGaggggttatgcctgagcagt	18	10	0	1	rs144169786		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:8108286G>A	uc002gkm.2	-	9	999	c.938C>T	c.(937-939)TCG>TTG	p.S313L	AURKB_uc010cnu.2_Missense_Mutation_p.S133L|AURKB_uc002gkn.2_Missense_Mutation_p.S314L|AURKB_uc010vuu.1_Missense_Mutation_p.S272L|AURKB_uc002gko.2_RNA	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	aurora kinase B	313	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(1)|central_nervous_system(1)	4						CAGCCGTTCCGAGGGGTTATG	0.632													A	8108286	G	A	8108286	3	1	55	1	0	0	0	0	1	0	0	0	1223	1059	37	1	100	1	AURKB	17	8108286	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	313939	8108286	73086924	1416	42764											
KRBA2	124751	broad.mit.edu	37	chr17	8273299	8273299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcagctccttgagcatgCgtgtccgcccaccatgtcca	9	16	0	1	rs146158158		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:8273299C>T	uc002glf.1	-	2	638	c.632G>A	c.(631-633)CGC>CAC	p.R211H	KRBA2_uc002glg.1_Missense_Mutation_p.R128H	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	211					DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding				0						CTTGAGCATGCGTGTCCGCCC	0.418													T	8273299	C	T	8273299	3	4	55	1	0	0	0	0	1	0	0	0	8440	768	27	1	850	1	KRBA2	17	8273299	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	165013	8273299	72921911	1417	42765											
WDR16	146845	broad.mit.edu	37	chr17	9536336	9536336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaaagggtcatcagtggcGgtggggaaggggaggtattg	20	3	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:9536336G>A	uc002gly.2	+	10	1375	c.1306G>A	c.(1306-1308)GGT>AGT	p.G436S	WDR16_uc002glz.2_Missense_Mutation_p.G368S|WDR16_uc010coc.2_Missense_Mutation_p.G446S	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN	WD40-repeat protein upregulated in HCC isoform	436	WD 7.					cytoplasm|intracellular membrane-bounded organelle	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						CATCAGTGGCGGTGGGGAAGG	0.463													A	9536336	G	A	9536336	3	1	55	1	0	0	0	0	1	0	0	0	17273	1116	39	1	1344	1	WDR16	17	9536336	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1263037	9536336	71658874	1418	42766											
MYH13	8735	broad.mit.edu	37	chr17	10233779	10233779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgtgcttgtcatcagcGtcaccagcttctcatctctc	7	16	5	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:10233779G>A	uc002gmk.1	-	21	2450	c.2360C>T	c.(2359-2361)ACG>ATG	p.T787M		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	787	IQ.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TGTCATCAGCGTCACCAGCTT	0.532													A	10233779	G	A	10233779	3	1	55	1	0	0	0	0	1	0	0	0	10032	1145	40	1	3540	1	MYH13	17	10233779	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	697443	10233779	70961431	1419	42767											
MYH8	4626	broad.mit.edu	37	chr17	10297588	10297588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgtggaggagctggacaCgctcactggcatccaggagc	17	10	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:10297588C>T	uc002gmm.2	-	35	5239	c.5144G>A	c.(5143-5145)CGT>CAT	p.R1715H	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1715	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						GAGCTGGACACGCTCACTGGC	0.512									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				T	10297588	C	T	10297588	3	4	55	1	0	0	0	0	1	0	0	0	10041	536	19	1	693	1	MYH8	17	10297588	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	63809	10297588	70897622	1420	42768											
MYH2	4620	broad.mit.edu	37	chr17	10450814	10450814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcatccaggctgcataaCgttctttgaggttgtacagc	10	9	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:10450814C>T	uc010coi.2	-	4	454	c.326G>A	c.(325-327)CGT>CAT	p.R109H	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R109H|MYH2_uc010coj.2_Missense_Mutation_p.R109H	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	109	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						GGCTGCATAACGTTCTTTGAG	0.483													T	10450814	C	T	10450814	3	4	55	1	0	0	0	0	1	0	0	0	10035	536	19	1	5647	1	MYH2	17	10450814	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	153226	10450814	70744396	1421	42769											
MYH3	4621	broad.mit.edu	37	chr17	10545555	10545555	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataaacttgtatttttcttAccctgaaaagggcagagaca	7	7	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:10545555A>G	uc002gmq.1	-	16	2036	c.1959_splice	c.e16+1	p.R653_splice		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,						muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TATTTTTCTTACCCTGAAAAG	0.383													G	10545555	A	G	10545555	5	3	55	1	0	0	0	0	0	0	1	0	10036	405	14	3	3961	3	MYH3	17	10545555	Splice_Site	SNP	A	TCGA-BR-7851-01A-11D-2201-08	94741	10545555	70649655	1422	42770											
HS3ST3B1	9953	broad.mit.edu	37	chr17	14205007	14205007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccggctcctgcgccgccGcgccggggctgctgctcctg	16	19	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:14205007G>A	uc002goh.1	+	1	502	c.172G>A	c.(172-174)GCG>ACG	p.A58T	MGC12916_uc010vvv.1_5'Flank	NM_006041	NP_006032	Q9Y662	HS3SB_HUMAN	heparan sulfate D-glucosaminyl	58	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CTGCGCCGCCGCGCCGGGGCT	0.672													A	14205007	G	A	14205007	3	1	55	1	0	0	0	0	1	0	0	0	7366	1087	38	1	174	1	HS3ST3B1	17	14205007	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3659452	14205007	66990203	1423	42771											
NCOR1	9611	broad.mit.edu	37	chr17	16024504	16024504	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgactgttggcagtctttcGcccccggggtgtggcttgct	14	12	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:16024504G>A	uc002gpo.2	-	16	1954	c.1714C>T	c.(1714-1716)CGA>TGA	p.R572*	NCOR1_uc002gpn.2_Nonsense_Mutation_p.R572*|NCOR1_uc002gpp.1_Nonsense_Mutation_p.R463*|NCOR1_uc002gpr.2_Nonsense_Mutation_p.R463*	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	572					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCAGTCTTTCGCCCCCGGGGT	0.542													A	16024504	G	A	16024504	4	1	55	1	0	0	0	0	0	1	0	0	10235	1095	38	1	5732	1	NCOR1	17	16024504	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1819497	16024504	65170706	1424	42772											
ZNF624	57547	broad.mit.edu	37	chr17	16527079	16527079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctggtgctgattaagaCgggcacactggctaaaagat	11	8	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:16527079C>T	uc010cpi.1	-	6	1204	c.1121G>A	c.(1120-1122)CGT>CAT	p.R374H		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	374	C2H2-type 4; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTGATTAAGACGGGCACACTG	0.383													T	16527079	C	T	16527079	3	4	55	1	0	0	0	0	1	0	0	0	18045	536	19	1	1480	1	ZNF624	17	16527079	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	502575	16527079	64668131	1425	42773											
NT5M	56953	broad.mit.edu	37	chr17	17250123	17250123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttcccacccacaggggcCgagccaacccccagctggga	11	18	0	0	rs142120102	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:17250123C>T	uc002grf.2	+	5	734	c.549C>T	c.(547-549)GCC>GCT	p.A183A	NT5M_uc002gre.2_Intron|NT5M_uc002grg.2_Silent_p.A189A	NM_020201	NP_064586	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial precursor	183					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding				0						CCACAGGGGCCGAGCCAACCC	0.677													T	17250123	C	T	17250123	2	4	55	1	0	0	0	0	0	0	0	1	10694	639	23	1		1	NT5M	17	17250123	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	723044	17250123	63945087	1426	42774											
DRG2	1819	broad.mit.edu	37	chr17	17997255	17997255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagtcgggtgatgcccgtGtggcgctgattggatttccc	15	9	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:17997255G>A	uc002gsh.1	+	2	248	c.193G>A	c.(193-195)GTG>ATG	p.V65M	DRG2_uc010vxg.1_Missense_Mutation_p.V65M|DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.V65M	NM_001388	NP_001379	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	65					signal transduction		GTP binding			ovary(1)	1	all_neural(463;0.228)					TGATGCCCGTGTGGCGCTGAT	0.557													A	17997255	G	A	17997255	3	1	55	1	0	0	0	0	1	0	0	0	4762	1377	48	4	199	4	DRG2	17	17997255	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	747132	17997255	63197955	1427	42775											
MYO15A	51168	broad.mit.edu	37	chr17	18022483	18022483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacggccgcctgcggccgcgCgcccggtcactcagcaaagc	13	18	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:18022483C>T	uc010vxh.1	+	2	707	c.369C>T	c.(367-369)CGC>CGT	p.R123R		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	123	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					TGCGGCCGCGCGCCCGGTCAC	0.642													T	18022483	C	T	18022483	2	4	55	1	0	0	0	0	0	0	0	1	10063	755	27	1		1	MYO15A	17	18022483	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	25228	18022483	63172727	1428	42776											
MYO15A	51168	broad.mit.edu	37	chr17	18034563	18034563	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggagtccagatcctggaggCaacacccctcttggagtcct	11	13	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:18034563C>G	uc010vxh.1	+	8	4387	c.4049C>G	c.(4048-4050)GCA>GGA	p.A1350G		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1350	Myosin head-like.|Potential.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					ATCCTGGAGGCAACACCCCTC	0.562													G	18034563	C	G	18034563	3	3	55	1	0	0	0	0	1	0	0	0	10063	710	25	5	4075	5	MYO15A	17	18034563	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	12080	18034563	63160647	1429	42777											
FAM83G	644815	broad.mit.edu	37	chr17	18881325	18881325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctgccgctggagtggggCgtggcctgggcctgccatcc	17	13	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:18881325C>T	uc002guw.2	-	5	1821	c.1654G>A	c.(1654-1656)GCC>ACC	p.A552T	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	552										ovary(1)|central_nervous_system(1)	2						TGGAGTGGGGCGTGGCCTGGG	0.622													T	18881325	C	T	18881325	3	4	55	1	0	0	0	0	1	0	0	0	5639	768	27	1	825	1	FAM83G	17	18881325	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	846762	18881325	62313885	1430	42778											
ALDH3A1	218	broad.mit.edu	37	chr17	19641649	19641649	+	Frame_Shift_Del	DEL	G	G	-													ctctcaccttggccgggctcGgggggtatctgaccttcagg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:19641648_19641648CG>C	uc002gwk.3	-	7	1949	c.1686_1686CG>G	c.(1684-1686)ccgfs	p.P562fs	ALDH3A1_uc010cqu.3_Frame_Shift_Del_p.P445fs|ALDH3A1_uc010vzd.2_Frame_Shift_Del_p.P445fs|ALDH3A1_uc002gwj.3_Frame_Shift_Del_p.P445fs|ALDH3A1_uc010cqv.3_Frame_Shift_Del_p.P444fs|ALDH3A1_uc002gwl.1_Frame_Shift_Del_p.P372fs			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	445					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	TGGCCGGGCTCGGGGGGTATC	0.627													-	19641649	G	-	19641649	7	5	55	1	0	1	0	1	0	0	0	0	497	1116	39	0	35	0	ALDH3A1	17	19641649	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	760324	19641649	61553561	1431	42779											
CYTSB	92521	broad.mit.edu	37	chr17	20000031	20000031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacggcccagaccgggtgCggcctctgcctgcagcctct	13	18	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:20000031C>T	uc002gwq.2	+	2	212	c.67C>T	c.(67-69)CGG>TGG	p.R23W	CYTSB_uc010cqx.2_Missense_Mutation_p.R23W|CYTSB_uc002gwr.2_Missense_Mutation_p.R23W|CYTSB_uc002gws.2_Missense_Mutation_p.R23W	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	23						nucleus					0						AGACCGGGTGCGGCCTCTGCC	0.582													T	20000031	C	T	20000031	3	4	55	1	0	0	0	0	1	0	0	0	4210	759	27	1	69	1	CYTSB	17	20000031	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	358382	20000031	61195179	1432	42780											
USP22	23326	broad.mit.edu	37	chr17	20921419	20921419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaaggttgatcagcccacGcagacctggacacaaatcac	8	15	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:20921419G>A	uc002gym.3	-	5	730	c.526C>T	c.(526-528)CGT>TGT	p.R176C	USP22_uc002gyn.3_Missense_Mutation_p.R164C|USP22_uc002gyl.3_Missense_Mutation_p.R71C	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	ubiquitin thiolesterase 22	176					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1						ATCAGCCCACGCAGACCTGGA	0.552													A	20921419	G	A	20921419	3	1	55	1	0	0	0	0	1	0	0	0	17051	1087	38	1	1087	1	USP22	17	20921419	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	921388	20921419	60273791	1433	42781											
WSB1	26118	broad.mit.edu	37	chr17	25630634	25630634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacagggttgaacaatgggCgtatcaaaatatgggatgta	12	5	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:25630634C>T	uc002gzd.1	+	3	767	c.451C>T	c.(451-453)CGT>TGT	p.R151C	WSB1_uc010vzy.1_Missense_Mutation_p.R151C|WSB1_uc010vzz.1_Missense_Mutation_p.R120C|WSB1_uc010crf.1_Intron|WSB1_uc002gze.1_Intron|WSB1_uc002gzf.1_RNA	NM_015626	NP_056441	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box-containing 1 isoform 1	151	WD 2.				intracellular signal transduction	intracellular	protein binding				0	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GAACAATGGGCGTATCAAAAT	0.378													T	25630634	C	T	25630634	3	4	55	1	0	0	0	0	1	0	0	0	17401	768	27	1	461	1	WSB1	17	25630634	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	4709215	25630634	55564576	1434	42782											
KIAA0100	9703	broad.mit.edu	37	chr17	26966334	26966334	+	Splice_Site	DEL	T	T	-													tgaaaaagatcagactgaccTttttttcctttgctttagaa							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:26966333_26966333CT>C	uc002hbu.3	-	11	1332	c.1229_splice	c.e11+1	p.R410_splice	KIAA0100_uc002hbv.3_Frame_Shift_Del_p.R410fs	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	410						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCAGACTGACCTTTTTTTCCT	0.433													-	26966334	T	-	26966334	8	5	55	1	0	1	0	1	0	0	1	0	8154	1623	56	0	5595	0	KIAA0100	17	26966334	Splice_Site	DEL	T	TCGA-BR-7851-01A-11D-2201-08	1335700	26966334	54228876	1435	42783											
SUPT6H	6830	broad.mit.edu	37	chr17	27002046	27002046	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacgatgacgaggaggaatAtggcaaggaggaacatgaaa	16	4	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:27002046A>G	uc002hby.2	+	5	494	c.404A>G	c.(403-405)TAT>TGT	p.Y135C	SUPT6H_uc010crt.2_Missense_Mutation_p.Y135C	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	135	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					GAGGAGGAATATGGCAAGGAG	0.517													G	27002046	A	G	27002046	3	3	55	1	0	0	0	0	1	0	0	0	15397	449	16	3	418	3	SUPT6H	17	27002046	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	35712	27002046	54193164	1436	42784											
TRAF4	9618	broad.mit.edu	37	chr17	27076100	27076100	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggagctatcagtgggcagTgatggcgtgctcatctggaa	16	7	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:27076100T>C	uc002hcs.2	+	7	1026	c.918T>C	c.(916-918)AGT>AGC	p.S306S	TRAF4_uc002hcq.1_Intron	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	306	Potential.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			upper_aerodigestive_tract(1)|lung(1)	2	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CAGTGGGCAGTGATGGCGTGC	0.607													C	27076100	T	C	27076100	2	2	55	1	0	0	0	0	0	0	0	1	16440	1693	59	3		3	TRAF4	17	27076100	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	74054	27076100	54119110	1437	42785											
TAOK1	57551	broad.mit.edu	37	chr17	27849338	27849338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaaggacttagagcatgCcatgctactccgacagcatg	10	11	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:27849338C>T	uc002hdz.1	+	17	2143	c.1949C>T	c.(1948-1950)GCC>GTC	p.A650V	TAOK1_uc010wbe.1_Intron|TAOK1_uc010wbf.1_Missense_Mutation_p.A650V	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	650	Potential.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)			TTAGAGCATGCCATGCTACTC	0.408													T	27849338	C	T	27849338	3	4	55	1	0	0	0	0	1	0	0	0	15544	739	26	2	2011	2	TAOK1	17	27849338	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	773238	27849338	53345872	1438	42786											
ABHD15	116236	broad.mit.edu	37	chr17	27889799	27889799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctggcaagggctcctggCgcaggaagccacagtggcct	16	12	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:27889799C>T	uc002hed.1	-	2	1251	c.1187G>A	c.(1186-1188)CGC>CAC	p.R396H		NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15 precursor	396						extracellular region	carboxylesterase activity				0						GGGCTCCTGGCGCAGGAAGCC	0.592													T	27889799	C	T	27889799	3	4	55	1	0	0	0	0	1	0	0	0	81	768	27	1	223	1	ABHD15	17	27889799	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	40461	27889799	53305411	1439	42787											
SLC6A4	6532	broad.mit.edu	37	chr17	28548814	28548814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccgtgtgtcatctcccgCaccaggacttggaactgctg	12	13	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:28548814C>T	uc002hey.3	-	3	707	c.163G>A	c.(163-165)GCG>ACG	p.A55T		NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	55	Cytoplasmic (Potential).				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TCATCTCCCGCACCAGGACTT	0.557													T	28548814	C	T	28548814	3	4	55	1	0	0	0	0	1	0	0	0	14686	710	25	2	1781	2	SLC6A4	17	28548814	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	659015	28548814	52646396	1440	42788											
CRLF3	51379	broad.mit.edu	37	chr17	29123265	29123265	+	Frame_Shift_Del	DEL	A	A	-													gatgctactgttccatgcttAaaaatgtggtctttcactat							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:29123265delA	uc002hfr.3	-	4	625	c.516delT	c.(514-516)TTTfs	p.F172fs	CRLF3_uc010wbr.1_Frame_Shift_Del_p.F56fs	NM_015986	NP_057070	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	172					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm					0		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				TTCCATGCTTAAAAATGTGGT	0.408													-	29123265	A	-	29123265	7	5	55	1	0	1	0	1	0	0	0	0	3888	359	13	0	832	0	CRLF3	17	29123265	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	574451	29123265	52071945	1441	42789											
TMEM132E	124842	broad.mit.edu	37	chr17	32953916	32953916	+	Frame_Shift_Del	DEL	C	C	-													gcatcagcctgttccgcccgCcccccaggaggaccctgcag							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:32953916delC	uc002hif.2	+	3	896	c.568delC	c.(568-570)CCCfs	p.P190fs		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	190	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTTCCGCCCGCCCCCCAGGAG	0.547													-	32953916	C	-	32953916	7	5	55	1	0	1	0	1	0	0	0	0	16045	739	26	0	578	0	TMEM132E	17	32953916	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	3830651	32953916	48241294	1442	42790											
SLFN5	162394	broad.mit.edu	37	chr17	33586029	33586029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatggaacacagaggctgGtgtgccacttgctaccttat	10	10	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:33586029G>A	uc002hjf.3	+	2	437	c.320G>A	c.(319-321)GGT>GAT	p.G107D	SLFN5_uc002hje.2_Missense_Mutation_p.G107D|SLFN5_uc010wcg.1_Missense_Mutation_p.G107D	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	107					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ACAGAGGCTGGTGTGCCACTT	0.438													A	33586029	G	A	33586029	3	1	55	1	0	0	0	0	1	0	0	0	14737	1261	44	4	322	4	SLFN5	17	33586029	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	632113	33586029	47609181	1443	42791											
CCL16	6360	broad.mit.edu	37	chr17	34305185	34305185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggacgtgcttacatgattGctggcaggtgacagttgagg	15	6	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:34305185G>A	uc002hkl.2	-	2	258	c.191C>T	c.(190-192)GCA>GTA	p.A64V	CCL16_uc002hkm.2_RNA	NM_004590	NP_004581	O15467	CCL16_HUMAN	small inducible cytokine A16 precursor	64					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTACATGATTGCTGGCAGGTG	0.498													A	34305185	G	A	34305185	3	1	55	1	0	0	0	0	1	0	0	0	2887	1319	46	2	179	2	CCL16	17	34305185	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	719156	34305185	46890025	1444	42792											
CCL15	6359	broad.mit.edu	37	chr17	34325931	34325931	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctactggattttccagtggaAgctttgacatcattaactct	7	9	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:34325931A>C	uc010wcu.1	-	2	676	c.107T>G	c.(106-108)CTT>CGT	p.L36R	CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA	NM_032965	NP_116741	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15 precursor	36					cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTCCAGTGGAAGCTTTGACAT	0.458													C	34325931	A	C	34325931	3	2	55	1	0	0	0	0	1	0	0	0	2886	72	3	5	246	5	CCL15	17	34325931	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	20746	34325931	46869279	1445	42793											
CCL18	6362	broad.mit.edu	37	chr17	34398397	34398397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgacctgaagctgaatgCctgaggggcctggaagctgc	15	11	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:34398397C>T	uc002hku.2	+	3	326	c.266C>T	c.(265-267)GCC>GTC	p.A89V		NM_002988	NP_002979	P55774	CCL18_HUMAN	small inducible cytokine A18 precursor	89					cell-cell signaling|chemotaxis|immune response|inflammatory response|response to biotic stimulus|signal transduction	extracellular space	chemokine activity				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAGCTGAATGCCTGAGGGGCC	0.612													T	34398397	C	T	34398397	3	4	55	1	0	0	0	0	1	0	0	0	2889	739	26	2	276	2	CCL18	17	34398397	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	72466	34398397	46796813	1446	42794											
AATF	26574	broad.mit.edu	37	chr17	35346004	35346004	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gataagaccaaactggcttcTggaaaactggggaaggcaag	13	7	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:35346004T>A	uc002hni.2	+	6	1385	c.1134T>A	c.(1132-1134)TCT>TCA	p.S378S	AATF_uc002hnj.2_RNA	NM_012138	NP_036270	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	378	RB1 and SP1 binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity				0		Breast(25;0.00607)				AACTGGCTTCTGGAAAACTGG	0.458													A	35346004	T	A	35346004	2	1	55	1	0	0	0	0	0	0	0	1	25	1567	55	5		5	AATF	17	35346004	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	947607	35346004	45849206	1447	42795											
ACACA	31	broad.mit.edu	37	chr17	35549074	35549074	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgattgcacgaacaaagAacctgtagtctgtcacttct	8	9	3	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:35549074A>C	uc002hnm.2	-	37	4453	c.4262T>G	c.(4261-4263)TTC>TGC	p.F1421C	ACACA_uc002hnk.2_Missense_Mutation_p.F1343C|ACACA_uc002hnl.2_Missense_Mutation_p.F1363C|ACACA_uc002hnn.2_Missense_Mutation_p.F1421C|ACACA_uc002hno.2_Missense_Mutation_p.F1458C|ACACA_uc010cuy.2_Missense_Mutation_p.F115C	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1421					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACGAACAAAGAACCTGTAGTC	0.473													C	35549074	A	C	35549074	3	2	55	1	0	0	0	0	1	0	0	0	106	246	9	5	2858	5	ACACA	17	35549074	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	203070	35549074	45646136	1448	42796											
HNF1B	6928	broad.mit.edu	37	chr17	36059100	36059100	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtttacttgaagacatGttggtgagtgtactgatgct	11	6	0	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:36059100G>A	uc002hok.3	-	8	1856	c.1635C>T	c.(1633-1635)AAC>AAT	p.N545N	HNF1B_uc010wdi.1_Silent_p.N519N	NM_000458	NP_000449	P35680	HNF1B_HUMAN	hepatocyte nuclear factor 1-beta isoform 1	545					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TTGAAGACATGTTGGTGAGTG	0.537									Hereditary_Prostate_Cancer				A	36059100	G	A	36059100	2	1	55	1	0	0	0	0	0	0	0	1	7252	1368	48	4		4	HNF1B	17	36059100	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	510026	36059100	45136110	1449	42797											
GPR179	440435	broad.mit.edu	37	chr17	36484063	36484063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggacacacttcacctggccTgcagcccatatgatccagtt	9	14	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:36484063T>C	uc002hpz.2	-	11	5410	c.5389A>G	c.(5389-5391)AGG>GGG	p.R1797G		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1797	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCACCTGGCCTGCAGCCCATA	0.557													C	36484063	T	C	36484063	3	2	55	1	0	0	0	0	1	0	0	0	6674	1579	55	3	1718	3	GPR179	17	36484063	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	424963	36484063	44711147	1450	42798											
PCGF2	7703	broad.mit.edu	37	chr17	36895356	36895356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgctgcatagaaatcccgcCgccgtttcatctcatctgga	8	14	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:36895356C>T	uc002hqp.1	-	6	524	c.281G>A	c.(280-282)CGG>CAG	p.R94Q	PCGF2_uc002hqn.1_Missense_Mutation_p.R94Q|PCGF2_uc002hqo.1_Missense_Mutation_p.R94Q|PCGF2_uc010cvo.1_5'UTR|PCGF2_uc002hqq.1_Missense_Mutation_p.R94Q	NM_007144	NP_009075	P35227	PCGF2_HUMAN	ring finger protein 110	94	Nuclear localization signal (Potential).				negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|skin(1)	2	Breast(7;9.07e-22)					GAAATCCCGCCGCCGTTTCAT	0.562													T	36895356	C	T	36895356	3	4	55	1	0	0	0	0	1	0	0	0	11575	652	23	1	777	1	PCGF2	17	36895356	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	411293	36895356	44299854	1451	42799											
PIP4K2B	8396	broad.mit.edu	37	chr17	36927329	36927329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccccaggaccaaagaacCgaggaaagctgaggaggttg	13	9	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:36927329C>T	uc002hqs.2	-	8	1485	c.1004G>A	c.(1003-1005)CGG>CAG	p.R335Q	PIP4K2B_uc010cvp.2_5'Flank	NM_003559	NP_003550	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	335	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			ovary(1)	1						ACCAAAGAACCGAGGAAAGCT	0.527													T	36927329	C	T	36927329	3	4	55	1	0	0	0	0	1	0	0	0	11937	652	23	1	258	1	PIP4K2B	17	36927329	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	31973	36927329	44267881	1452	42800											
PIP4K2B	8396	broad.mit.edu	37	chr17	36955530	36955530	+	Frame_Shift_Del	DEL	C	C	-													gctggttaccgtgtggttcaCcccccacatcaggacgctga							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:36955530delC	uc002hqs.2	-	1	629	c.148delG	c.(148-150)GTGfs	p.V50fs	PIP4K2B_uc010wdt.1_Frame_Shift_Del_p.V50fs	NM_003559	NP_003550	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	50	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			ovary(1)	1						GTGTGGTTCACCCCCCACATC	0.677													-	36955530	C	-	36955530	7	5	55	1	0	1	0	1	0	0	0	0	11937	507	18	0	1142	0	PIP4K2B	17	36955530	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	28201	36955530	44239680	1453	42801											
MED1	5469	broad.mit.edu	37	chr17	37564657	37564659	+	In_Frame_Del	DEL	AGG	AGG	-													ggaagagccacttgaggaaaAggaggaggaagatgccgtac							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:37564656_37564658AAGG>A	uc002hrv.4	-	16	4028_4030	c.3816_3818CCTT>T	c.(3814-3819)tccttt>tcTt	p.F1273del	MED1_uc010wee.2_In_Frame_Del_p.F1101del|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	1273	Interaction with TP53.|Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding	p.S1272F(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ACTTGAGGAAAAGGAGGAGGAAG	0.498										HNSCC(31;0.082)			-	37564659	AGG	-	37564657	7	5	55	1	0	1	0	1	0	0	0	0	9425	72	3	0	932	0	MED1	17	37564657	In_Frame_Del	DEL	AGG	TCGA-BR-7851-01A-11D-2201-08	609127	37564657	43630553	1454	42802											
MED1	5469	broad.mit.edu	37	chr17	37566787	37566787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccggaaaggtgttggttgGtgtagtggtaccactcattg	14	8	1	0	rs1139822		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:37566787G>A	uc002hrv.3	-	17	1899	c.1687C>T	c.(1687-1689)CCA>TCA	p.P563S	MED1_uc010wee.1_Missense_Mutation_p.P391S|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	563	Interaction with ESR1.|Interaction with THRA.|Interaction with VDR.|Interaction with the Mediator complex and THRA.			P -> S (in Ref. 1; CAA73867 and 7; AAF98352).	androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GTGTTGGTTGGTGTAGTGGTA	0.532										HNSCC(31;0.082)			A	37566787	G	A	37566787	3	1	55	1	0	0	0	0	1	0	0	0	9425	1261	44	4	3062	4	MED1	17	37566787	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2130	37566787	43628423	1455	42803											
CDK12	51755	broad.mit.edu	37	chr17	37627211	37627211	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagtaaaaagaagagatccAgttcacgcagtcgtcattcc	8	9	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:37627211A>G	uc010cvv.2	+	2	1712	c.1126A>G	c.(1126-1128)AGT>GGT	p.S376G	CDK12_uc010wef.1_Missense_Mutation_p.S375G|CDK12_uc002hrw.3_Missense_Mutation_p.S376G	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	376					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						GAAGAGATCCAGTTCACGCAG	0.423										TCGA Ovarian(9;0.13)			G	37627211	A	G	37627211	3	3	55	1	0	0	0	0	1	0	0	0	3128	188	7	3	1132	3	CDK12	17	37627211	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	60424	37627211	43567999	1456	42804											
WIPF2	147179	broad.mit.edu	37	chr17	38430168	38430168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacctccaccctcaaggaCgccagctgggccaccccctc	7	23	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:38430168C>T	uc002hug.1	+	6	1337	c.1097C>T	c.(1096-1098)ACG>ATG	p.T366M	WIPF2_uc002huh.1_Missense_Mutation_p.T216M|WIPF2_uc010cww.1_Missense_Mutation_p.T216M|WIPF2_uc002hui.1_Missense_Mutation_p.T366M|WIPF2_uc010cwx.1_Missense_Mutation_p.T108M|WIPF2_uc010cwy.1_Missense_Mutation_p.T366M	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	WIRE protein	366						cytoplasm|cytoskeleton	actin binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						CCCTCAAGGACGCCAGCTGGG	0.622										HNSCC(43;0.11)			T	38430168	C	T	38430168	3	4	55	1	0	0	0	0	1	0	0	0	17365	536	19	1	1115	1	WIPF2	17	38430168	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	802957	38430168	42765042	1457	42805											
CDC6	990	broad.mit.edu	37	chr17	38449856	38449857	+	Frame_Shift_Del	DEL	AT	AT	-													gatgaggaaattggaaaaacAtatgactgcagagaagggcc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:38449855_38449856CAT>C	uc002huj.1	+	4	1018_1019	c.808_809CAT>C	c.(808-810)catfs	p.H270fs		NM_001254	NP_001245	Q99741	CDC6_HUMAN	Homo sapiens cell division cycle 6 homolog (S. cerevisiae) (CDC6), mRNA.	270					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|mitosis|negative regulation of DNA replication|negative regulation of cell proliferation|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						ATTGGAAAAACATATGACTGCA	0.455													-	38449857	AT	-	38449856	7	5	55	1	0	1	0	1	0	0	0	0	3083	217	8	0	823	0	CDC6	17	38449856	Frame_Shift_Del	DEL	AT	TCGA-BR-7851-01A-11D-2201-08	19688	38449856	42745354	1458	42806											
RARA	5914	broad.mit.edu	37	chr17	38506123	38506123	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaacaaggtgacccggaacCgctgccagtactgccgactg	11	14	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:38506123C>A	uc002huk.1	+	4	870	c.415C>A	c.(415-417)CGC>AGC	p.R139S	RARA_uc002hul.3_Missense_Mutation_p.R139S|RARA_uc010wfe.1_Intron|RARA_uc002hun.1_Missense_Mutation_p.R134S	NM_000964	NP_000955	P10276	RARA_HUMAN	retinoic acid receptor, alpha isoform 1	139	Nuclear receptor.|NR C4-type.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GACCCGGAACCGCTGCCAGTA	0.587			T	PML|ZNF145|TIF1|NUMA1|NPM1	APL								A	38506123	C	A	38506123	3	1	55	1	0	0	0	0	1	0	0	0	13052	652	23	5	592	5	RARA	17	38506123	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	56267	38506123	42689087	1459	42807											
TNS4	84951	broad.mit.edu	37	chr17	38645087	38645087	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgctgcttcgtgtctctcGggggacgtctctggaaagga	14	10	2	0	rs146714186		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:38645087G>A	uc010cxb.2	-	3	738	c.574C>T	c.(574-576)CGA>TGA	p.R192*		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	192	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CGTGTCTCTCGGGGGACGTCT	0.672													A	38645087	G	A	38645087	4	1	55	1	0	0	0	0	0	1	0	0	16342	1124	39	1	1617	1	TNS4	17	38645087	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	138964	38645087	42550123	1460	42808											
KRT10	3858	broad.mit.edu	37	chr17	38975866	38975866	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtattcagtattctggcactCggtttcagctcgaatctgtt	9	9	4	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:38975866C>A	uc002hvi.2	-	6	1302	c.1276G>T	c.(1276-1278)GAG>TAG	p.E426*	KRT10_uc010cxd.2_RNA|TMEM99_uc002hvj.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	keratin 10	426	Rod.|Gly-rich.|Coil 2.				epidermis development		protein binding|structural constituent of epidermis				0		Breast(137;0.000301)				TTCTGGCACTCGGTTTCAGCT	0.483													A	38975866	C	A	38975866	4	1	55	1	0	0	0	0	0	1	0	0	8448	893	31	5	490	5	KRT10	17	38975866	Nonsense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	330779	38975866	42219344	1461	42809											
GHDC	84514	broad.mit.edu	37	chr17	40344470	40344470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggcgctccagggttcccGgcagctatcgccccagctag	13	15	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:40344470G>A	uc002hzd.2	-	4	1162	c.678C>T	c.(676-678)GCC>GCT	p.A226A	GHDC_uc002hzg.1_Silent_p.A226A|GHDC_uc010wgg.1_Silent_p.A187A|GHDC_uc002hze.3_Silent_p.A226A|GHDC_uc002hzf.3_Silent_p.A226A|GHDC_uc010cxz.2_RNA	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	LGP1 homolog isoform 1	226						endoplasmic reticulum|nuclear envelope					0		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CAGGGTTCCCGGCAGCTATCG	0.657													A	40344470	G	A	40344470	2	1	55	1	0	0	0	0	0	0	0	1	6369	1103	39	1		1	GHDC	17	40344470	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1368604	40344470	40850740	1462	42810											
TUBG1	7283	broad.mit.edu	37	chr17	40766006	40766006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctacacccctctcactaCggaccagtcagtaagagcag	9	15	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:40766006C>T	uc002ian.2	+	8	1231	c.833C>T	c.(832-834)ACG>ATG	p.T278M		NM_001070	NP_001061	P23258	TBG1_HUMAN	tubulin, gamma 1	278					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CCTCTCACTACGGACCAGTCA	0.617													T	40766006	C	T	40766006	3	4	55	1	0	0	0	0	1	0	0	0	16761	536	19	1	863	1	TUBG1	17	40766006	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	421536	40766006	40429204	1463	42811											
CNTNAP1	8506	broad.mit.edu	37	chr17	40843896	40843896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaatccgtgccaaccacaGcctggatgtctccttctact	6	17	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:40843896G>A	uc002iay.2	+	16	2633	c.2417G>A	c.(2416-2418)AGC>AAC	p.S806N	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	806	Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCCAACCACAGCCTGGATGTC	0.572													A	40843896	G	A	40843896	3	1	55	1	0	0	0	0	1	0	0	0	3646	971	34	2	2479	2	CNTNAP1	17	40843896	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	77890	40843896	40351314	1464	42812											
EZH1	2145	broad.mit.edu	37	chr17	40854922	40854922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagaagagctcttcgccaGcttgaattgccctcttggca	9	12	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:40854922G>A	uc002iaz.2	-	20	2301	c.2156C>T	c.(2155-2157)GCT>GTT	p.A719V	EZH1_uc002iba.2_Missense_Mutation_p.A710V|EZH1_uc010wgt.1_Missense_Mutation_p.A649V|EZH1_uc010wgu.1_Missense_Mutation_p.A725V|EZH1_uc010wgv.1_Missense_Mutation_p.A679V|EZH1_uc010wgw.1_Missense_Mutation_p.A580V	NM_001991	NP_001982	Q92800	EZH1_HUMAN	enhancer of zeste homolog 1	719	SET.			VVMVNGDHRIGIFAKRAIQAGEELFFDYRYSQADALKYVGI ERETDVL -> GESQ (in Ref. 2; BAA25019).	anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			ovary(3)	3		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CTCTTCGCCAGCTTGAATTGC	0.512													A	40854922	G	A	40854922	3	1	55	1	0	0	0	0	1	0	0	0	5333	971	34	2	95	2	EZH1	17	40854922	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	11026	40854922	40340288	1465	42813											
WNK4	65266	broad.mit.edu	37	chr17	40939342	40939342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgattaccagccagtggcccGtgcagtacgtgaacgggttg	14	11	0	1	rs55997156	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:40939342G>A	uc002ibj.2	+	7	1544	c.1523G>A	c.(1522-1524)CGT>CAT	p.R508H	WNK4_uc010wgx.1_Missense_Mutation_p.R172H|WNK4_uc002ibk.1_Missense_Mutation_p.R280H|WNK4_uc010wgy.1_Translation_Start_Site	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	508					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCAGTGGCCCGTGCAGTACGT	0.587													A	40939342	G	A	40939342	3	1	55	1	0	0	0	0	1	0	0	0	17377	1145	40	1	1549	1	WNK4	17	40939342	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	84420	40939342	40255868	1466	42814											
BECN1	8678	broad.mit.edu	37	chr17	40965966	40965966	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatggagcttcacagagtacCttagatttgtctgtcagaga	10	7	3	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:40965966C>G	uc002ibo.3	-	10	1176	c.1041G>C	c.(1039-1041)AAG>AAC	p.K347N	BECN1_uc010whb.1_Missense_Mutation_p.K260N|BECN1_uc010whc.1_Missense_Mutation_p.K271N|BECN1_uc002ibn.2_Missense_Mutation_p.K347N	NM_003766	NP_003757	Q14457	BECN1_HUMAN	beclin 1	347					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			ovary(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CACAGAGTACCTTAGATTTGT	0.358													G	40965966	C	G	40965966	3	3	55	1	0	0	0	0	1	0	0	0	1396	695	24	5	323	5	BECN1	17	40965966	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	26624	40965966	40229244	1467	42815											
RUNDC1	146923	broad.mit.edu	37	chr17	41142424	41142424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgcagcagaacaggcaGcagcagaacgcctccaggaa	13	12	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:41142424G>A	uc002ici.1	+	4	959	c.947G>A	c.(946-948)AGC>AAC	p.S316N	RUNDC1_uc010whi.1_Missense_Mutation_p.S86N	NM_173079	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	316											0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		AGAACAGGCAGCAGCAGAACG	0.388													A	41142424	G	A	41142424	3	1	55	1	0	0	0	0	1	0	0	0	13742	971	34	2	961	2	RUNDC1	17	41142424	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	176458	41142424	40052786	1468	42816											
BRCA1	672	broad.mit.edu	37	chr17	41246532	41246532	+	Frame_Shift_Del	DEL	T	T	-													gatcagcattcagatctaccTttttttctgtgctgggagtc					rs80357911		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:41246531_41246531CT>C	uc002icq.3	-	9	1249	c.1017_1017AG>G	c.(1015-1017)aagfs	p.K339fs	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Frame_Shift_Del_p.K268fs|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Frame_Shift_Del_p.K292fs|BRCA1_uc002ict.3_Frame_Shift_Del_p.K339fs|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Frame_Shift_Del_p.K339fs|BRCA1_uc002ide.1_Frame_Shift_Del_p.K170fs|BRCA1_uc010cyy.1_Frame_Shift_Del_p.K339fs|BRCA1_uc010whs.1_Frame_Shift_Del_p.K339fs|BRCA1_uc010cyz.2_Frame_Shift_Del_p.K292fs|BRCA1_uc010cza.2_Frame_Shift_Del_p.K313fs|BRCA1_uc010wht.1_Frame_Shift_Del_p.K43fs	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	339					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCAGATCTACCTTTTTTTCTG	0.438			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			-	41246532	T	-	41246532	7	5	55	1	0	1	0	1	0	0	0	0	1498	1609	56	0	4701	0	BRCA1	17	41246532	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	104108	41246532	39948678	1469	42817											
UBTF	7343	broad.mit.edu	37	chr17	42284915	42284915	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttctcatcatcttcctcttcTtcatcctcgtcctcgtcatc	2	17	7	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:42284915T>A	uc002igb.2	-	19	2143	c.2076A>T	c.(2074-2076)GAA>GAT	p.E692D	UBTF_uc002igc.2_Missense_Mutation_p.E655D|UBTF_uc010czs.2_Missense_Mutation_p.E692D|UBTF_uc002igd.2_Missense_Mutation_p.E655D|UBTF_uc010czt.2_Missense_Mutation_p.E692D	NM_014233	NP_055048	P17480	UBF1_HUMAN	upstream binding transcription factor, RNA	692	Asp/Glu/Ser-rich (acidic).				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		cttcctcttcttcatcctcgt	0.433													A	42284915	T	A	42284915	3	1	55	1	0	0	0	0	1	0	0	0	16906	1606	56	5	226	5	UBTF	17	42284915	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	1038383	42284915	38910295	1470	42818											
HEXIM1	10614	broad.mit.edu	37	chr17	43227260	43227260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggccgccgccaaatccgacGacaccagcgatgacgacttc	11	16	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:43227260G>A	uc002iig.2	+	1	2577	c.703G>A	c.(703-705)GAC>AAC	p.D235N		NM_006460	NP_006451	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	235	Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			ovary(1)	1						CAAATCCGACGACACCAGCGA	0.612													A	43227260	G	A	43227260	3	1	55	1	0	0	0	0	1	0	0	0	7076	1058	37	1	705	1	HEXIM1	17	43227260	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	942345	43227260	37967950	1471	42819											
B4GALNT2	124872	broad.mit.edu	37	chr17	47210502	47210502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcgggagtgcgggcttcGgggctctctgcttggaactc	17	11	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:47210502G>A	uc002ion.2	+	1	174	c.115G>A	c.(115-117)GGG>AGG	p.G39R	B4GALNT2_uc010wlt.1_Intron|B4GALNT2_uc010wlu.1_Intron	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	39	Cytoplasmic (Potential).				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2			all cancers(6;0.000316)			TGCGGGCTTCGGGGCTCTCTG	0.677													A	47210502	G	A	47210502	3	1	55	1	0	0	0	0	1	0	0	0	1267	1116	39	1	135	1	B4GALNT2	17	47210502	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3983242	47210502	33984708	1472	42820											
NGFR	4804	broad.mit.edu	37	chr17	47590364	47590364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtccactgccacatcccCggtgtgagcccaaccgggga	12	15	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:47590364C>T	uc002ioz.3	+	6	1402	c.1277C>T	c.(1276-1278)CCG>CTG	p.P426L		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	426	Cytoplasmic (Potential).				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				ovary(1)|lung(1)	2	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCCACATCCCCGGTGTGAGCC	0.711													T	47590364	C	T	47590364	3	4	55	1	0	0	0	0	1	0	0	0	10396	652	23	1	1299	1	NGFR	17	47590364	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	379862	47590364	33604846	1473	42821											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602													-	48433967	C	-	48433967	7	5	55	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	843603	48433967	32761243	1474	42822											
RSAD1	55316	broad.mit.edu	37	chr17	48560736	48560736	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttatgccccagggggctggaGgccacacccgggaggctcgg	17	13	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:48560736G>T	uc002iqw.1	+	6	996	c.940G>T	c.(940-942)GGC>TGC	p.G314C	RSAD1_uc010wmq.1_RNA	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing	314					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGGGGCTGGAGGCCACACCCG	0.552													T	48560736	G	T	48560736	3	4	55	1	0	0	0	0	1	0	0	0	13694	1000	35	5	962	5	RSAD1	17	48560736	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	126769	48560736	32634474	1475	42823											
SPATA20	64847	broad.mit.edu	37	chr17	48628888	48628888	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcttgatggtgtcaggCtatgctgtgactggggctgt	16	8	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:48628888C>T	uc002irf.2	+	12	1686	c.1545C>T	c.(1543-1545)GGC>GGT	p.G515G	SPATA20_uc002irc.2_Silent_p.G182G|SPATA20_uc002ire.2_Silent_p.G471G|SPATA20_uc002ird.2_Silent_p.G531G|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	515					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TGGTGTCAGGCTATGCTGTGA	0.567													T	48628888	C	T	48628888	2	4	55	1	0	0	0	0	0	0	0	1	15005	784	28	2		2	SPATA20	17	48628888	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	68152	48628888	32566322	1476	42824											
ABCC3	8714	broad.mit.edu	37	chr17	48735816	48735816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccctaccctgagaccagCgctggctttctctcccgcct	7	19	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:48735816C>T	uc002isl.2	+	6	713	c.633C>T	c.(631-633)AGC>AGT	p.S211S	ABCC3_uc002isk.3_Silent_p.S211S	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	211	Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CTGAGACCAGCGCTGGCTTTC	0.582													T	48735816	C	T	48735816	2	4	55	1	0	0	0	0	0	0	0	1	54	767	27	1		1	ABCC3	17	48735816	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	106928	48735816	32459394	1477	42825											
LUC7L3	51747	broad.mit.edu	37	chr17	48827882	48827882	+	Frame_Shift_Del	DEL	A	A	-													aaaagaggggatctgatgatAaaaaaagtagtgtgaagtcc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:48827882delA	uc002isr.2	+	10	1276	c.1159delA	c.(1159-1161)AAAfs	p.K387fs	LUC7L3_uc010wmw.1_Frame_Shift_Del_p.K311fs|LUC7L3_uc002isq.2_Frame_Shift_Del_p.K387fs|LUC7L3_uc002iss.2_Frame_Shift_Del_p.K387fs|uc002ist.1_5'Flank	NM_006107	NP_006098	O95232	LC7L3_HUMAN	LUC7-like 3	387	Arg/Ser-rich.				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding				0						ATCTGATGATAAAAAAAGTAG	0.358													-	48827882	A	-	48827882	7	5	55	1	0	1	0	1	0	0	0	0	9084	363	13	0	1197	0	LUC7L3	17	48827882	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	92066	48827882	32367328	1478	42826											
KIF2B	84643	broad.mit.edu	37	chr17	51901779	51901779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatacaaccaaggccagccGgaaaaggcagctggaagggg	15	9	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:51901779G>A	uc002iua.2	+	1	1541	c.1385G>A	c.(1384-1386)CGG>CAG	p.R462Q	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	462	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						AAGGCCAGCCGGAAAAGGCAG	0.483													A	51901779	G	A	51901779	3	1	55	1	0	0	0	0	1	0	0	0	8298	1116	39	1	1387	1	KIF2B	17	51901779	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3073897	51901779	29293431	1479	42827											
STXBP4	252983	broad.mit.edu	37	chr17	53158486	53158486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgtagcatcccagcaacGctggcgcttgaatctaagga	12	11	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:53158486G>A	uc002iuf.1	+	16	1638	c.1431G>A	c.(1429-1431)ACG>ACA	p.T477T	STXBP4_uc010dcd.1_Silent_p.T455T	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	477						cytoplasm	calcium ion binding			ovary(1)	1						TCCCAGCAACGCTGGCGCTTG	0.383													A	53158486	G	A	53158486	2	1	55	1	0	0	0	0	0	0	0	1	15354	1074	38	1		1	STXBP4	17	53158486	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1256707	53158486	28036724	1480	42828											
DGKE	8526	broad.mit.edu	37	chr17	54939226	54939226	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaacatcggatactggggCggtggctgcagactatggga	16	8	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:54939226C>T	uc002iur.2	+	10	1539	c.1359C>T	c.(1357-1359)GGC>GGT	p.G453G	DGKE_uc002ius.1_Silent_p.G453G	NM_003647	NP_003638	P52429	DGKE_HUMAN	diacylglycerol kinase epsilon	453	Helical; (Potential).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(2)	2	Breast(9;3.59e-07)					GATACTGGGGCGGTGGCTGCA	0.433													T	54939226	C	T	54939226	2	4	55	1	0	0	0	0	0	0	0	1	4468	755	27	1		1	DGKE	17	54939226	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1780740	54939226	26255984	1481	42829											
OR4D2	124538	broad.mit.edu	37	chr17	56247177	56247177	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagtgacctctgattcccAgctccacacacccatgtact	5	17	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:56247177A>G	uc010wnp.1	+	1	161	c.161A>G	c.(160-162)CAG>CGG	p.Q54R		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D,	54	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						TCTGATTCCCAGCTCCACACA	0.488													G	56247177	A	G	56247177	3	3	55	1	0	0	0	0	1	0	0	0	11056	188	7	3	163	3	OR4D2	17	56247177	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1307951	56247177	24948033	1482	42830											
BZRAP1	9256	broad.mit.edu	37	chr17	56386700	56386702	+	In_Frame_Del	DEL	CTC	CTC	-													tccaggatctgctccaagatCtcctcatcgctgtcagtctc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:56386700_56386702delCTC	uc002ivx.3	-	22	4802_4804	c.3931_3933delGAG	c.(3931-3933)GAGdel	p.E1311del	BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_In_Frame_Del_p.E1251del|BZRAP1_uc010wnt.1_In_Frame_Del_p.E1311del	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	1311						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCCAAGATCTCCTCATCGCTG	0.478													-	56386702	CTC	-	56386700	7	5	55	1	0	1	0	1	0	0	0	0	1577	912	32	0	1680	0	BZRAP1	17	56386700	In_Frame_Del	DEL	CTC	TCGA-BR-7851-01A-11D-2201-08	139523	56386700	24808510	1483	42831											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	55	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	48461	56435161	24760049	1484	42832											
C17orf47	284083	broad.mit.edu	37	chr17	56620148	56620148	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagatcctcacagaaagggCtagagtctattttaaaaccg	8	9	3	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:56620148C>A	uc002iwq.1	-	1	1536	c.1400G>T	c.(1399-1401)AGC>ATC	p.S467I	SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	hypothetical protein LOC284083	467										breast(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACAGAAAGGGCTAGAGTCTAT	0.473													A	56620148	C	A	56620148	3	1	55	1	0	0	0	0	1	0	0	0	1858	797	28	5	320	5	C17orf47	17	56620148	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	184987	56620148	24575062	1485	42833											
TRIM37	4591	broad.mit.edu	37	chr17	57134362	57134362	+	Frame_Shift_Del	DEL	T	T	-													atgcaaattctcgaatgataTtttttgtaggatcattacag							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:57134361_57134361AT>A	uc002iwy.4	-	12	1518	c.1074_1074AT>T	c.(1072-1074)aatfs	p.N358fs	TRIM37_uc002iwz.4_Frame_Shift_Del_p.N358fs|TRIM37_uc002ixa.4_Frame_Shift_Del_p.N236fs|TRIM37_uc010woc.2_Frame_Shift_Del_p.N324fs	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	358	MATH.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTCGAATGATATTTTTTGTAG	0.343									Mulibrey Nanism				-	57134362	T	-	57134362	7	5	55	1	0	1	0	1	0	0	0	0	16508	1493	52	0	1877	0	TRIM37	17	57134362	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	514214	57134362	24060848	1486	42834											
SKA2	348235	broad.mit.edu	37	chr17	57189647	57189647	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtccatttcttcataaatcTggcatgtgaaatttgaattg	7	6	3	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:57189647T>C	uc002ixd.2	-	4	633	c.357A>G	c.(355-357)CCA>CCG	p.P119P	uc002ixb.2_Intron|SKA2_uc002ixc.2_RNA|SKA2_uc010dde.1_3'UTR|SKA2_uc002ixe.2_RNA	NM_182620	NP_872426	Q8WVK7	SKA2_HUMAN	spindle and KT associated 2 isoform 1	119					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding				0						TTCATAAATCTGGCATGTGAA	0.343													C	57189647	T	C	57189647	2	2	55	1	0	0	0	0	0	0	0	1	14353	1567	55	3		3	SKA2	17	57189647	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	55285	57189647	24005563	1487	42835											
PTRH2	51651	broad.mit.edu	37	chr17	57775153	57775153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaatcatcttgtactcccCgctgtctcccaagatgcttg	7	13	3	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:57775153C>T	uc002ixt.2	-	2	312	c.187G>A	c.(187-189)GGG>AGG	p.G63R	PTRH2_uc002ixs.2_RNA	NM_016077	NP_057161	Q9Y3E5	PTH2_HUMAN	Bcl-2 inhibitor of transcription precursor	63					apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTGTACTCCCCGCTGTCTCCC	0.498													T	57775153	C	T	57775153	3	4	55	1	0	0	0	0	1	0	0	0	12817	652	23	1	356	1	PTRH2	17	57775153	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	585506	57775153	23420057	1488	42836											
TBX2	6909	broad.mit.edu	37	chr17	59482855	59482855	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaggagcagggcctggcGccgctggtggtgcagacaga	19	10	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:59482855G>A	uc010wox.1	+	6	1625	c.1344G>A	c.(1342-1344)GCG>GCA	p.A448A	TBX2_uc002ize.2_3'UTR|TBX2_uc002izg.2_Silent_p.A294A	NM_005994	NP_005985	Q13207	TBX2_HUMAN	T-box 2	448					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding				0						AGGGCCTGGCGCCGCTGGTGG	0.711													A	59482855	G	A	59482855	2	1	55	1	0	0	0	0	0	0	0	1	15652	1074	38	1		1	TBX2	17	59482855	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1707702	59482855	21712355	1489	42837											
MED13	9969	broad.mit.edu	37	chr17	60072703	60072703	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attcatcagaaacttttaaaGgtttcttacattgcaccatt	4	8	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:60072703G>T	uc002izo.2	-	10	2068	c.1991C>A	c.(1990-1992)CCT>CAT	p.P664H		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	664					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						AACTTTTAAAGGTTTCTTACA	0.279													T	60072703	G	T	60072703	3	4	55	1	0	0	0	0	1	0	0	0	9430	1000	35	5	4617	5	MED13	17	60072703	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	589848	60072703	21122507	1490	42838											
TANC2	26115	broad.mit.edu	37	chr17	61432175	61432176	+	Frame_Shift_Ins	INS	-	-	T													ctgctgcctttccataggatINSttttttggatcgactagaag							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:61432174_61432175A>AT	uc002jal.4	+	11	1806_1807	c.1783_1784A>AT	c.(1783-1785)attfs	p.I595fs	TANC2_uc010wpe.2_Frame_Shift_Ins_p.I505fs|TANC2_uc002jam.1_5'UTR	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	595							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TTTCCATAGGATTTTTTTGGAT	0.431													T	61432176	-	T	61432175	7	5	55	1	0	1	1	0	0	0	0	0	15542	1493	52	0	1830	0	TANC2	17	61432175	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	1359472	61432175	19763035	1491	42839											
ACE	1636	broad.mit.edu	37	chr17	61560033	61560033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaatcggcctgctggaccGtgtcaccaatgacacgggta	11	12	1	1	rs35865660	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:61560033G>A	uc002jau.1	+	8	1347	c.1325G>A	c.(1324-1326)CGT>CAT	p.R442H	ACE_uc010wpi.1_Missense_Mutation_p.R442H|ACE_uc010ddu.1_Missense_Mutation_p.R259H|ACE_uc002jav.1_5'Flank|ACE_uc010ddv.1_5'Flank|ACE_uc010wpj.1_5'Flank|ACE_uc002jaw.1_5'Flank|ACE_uc010wpk.1_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	442	Extracellular (Potential).|Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CTGCTGGACCGTGTCACCAAT	0.647													A	61560033	G	A	61560033	3	1	55	1	0	0	0	0	1	0	0	0	136	1145	40	1	1355	1	ACE	17	61560033	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	127858	61560033	19635177	1492	42840											
STRADA	92335	broad.mit.edu	37	chr17	61781804	61781804	+	Frame_Shift_Del	DEL	G	G	-													cgagtcaccgttggagggccGgggggtgctggtggtcaggc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:61781804delG	uc002jbm.2	-	11	1156	c.997delC	c.(997-999)CGGfs	p.R333fs	STRADA_uc002jbn.2_Frame_Shift_Del_p.R275fs|STRADA_uc002jbo.2_Frame_Shift_Del_p.R296fs|STRADA_uc002jbp.2_Frame_Shift_Del_p.R296fs|STRADA_uc002jbq.2_Frame_Shift_Del_p.R275fs|STRADA_uc010wpq.1_Frame_Shift_Del_p.R289fs|STRADA_uc010wpr.1_Frame_Shift_Del_p.R304fs|STRADA_uc010ddw.2_Frame_Shift_Del_p.R304fs|STRADA_uc002jbr.2_3'UTR	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	333	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			ovary(1)	1						TTGGAGGGCCGGGGGGTGCTG	0.647													-	61781804	G	-	61781804	7	5	55	1	0	1	0	1	0	0	0	0	15323	1115	39	0	368	0	STRADA	17	61781804	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	221771	61781804	19413406	1493	42841											
STRADA	92335	broad.mit.edu	37	chr17	61788193	61788193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagtttggagacatgcagctCgccctggaagcaatgatgaa	13	8	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:61788193C>T	uc002jbm.2	-	7	511	c.352G>A	c.(352-354)GAG>AAG	p.E118K	STRADA_uc002jbn.2_Missense_Mutation_p.E60K|STRADA_uc002jbo.2_Missense_Mutation_p.E81K|STRADA_uc002jbp.2_Missense_Mutation_p.E81K|STRADA_uc002jbq.2_Missense_Mutation_p.E60K|STRADA_uc010wpq.1_Missense_Mutation_p.E74K|STRADA_uc010wpr.1_Missense_Mutation_p.E89K|STRADA_uc010ddw.2_Missense_Mutation_p.E89K|STRADA_uc002jbr.2_Missense_Mutation_p.E60K	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	118	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			ovary(1)	1						ACATGCAGCTCGCCCTGGAAG	0.498													T	61788193	C	T	61788193	3	4	55	1	0	0	0	0	1	0	0	0	15323	893	31	1	1029	1	STRADA	17	61788193	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	6389	61788193	19407017	1494	42842											
FTSJ3	117246	broad.mit.edu	37	chr17	61897668	61897668	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgatgggacgtgcatTgatttcccgccagcgtttcc	10	12	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:61897668T>C	uc002jbz.2	-	18	2281	c.2203A>G	c.(2203-2205)AAT>GAT	p.N735D	FTSJ3_uc002jca.2_Missense_Mutation_p.N735D	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	735					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						GGACGTGCATTGATTTCCCGC	0.557													C	61897668	T	C	61897668	3	2	55	1	0	0	0	0	1	0	0	0	6089	1812	63	3	352	3	FTSJ3	17	61897668	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	109475	61897668	19297542	1495	42843											
SCN4A	6329	broad.mit.edu	37	chr17	62019051	62019051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccggccgacgtggtgatctCgaacaggcagatgatgctgt	15	10	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:62019051C>T	uc002jds.1	-	24	4668	c.4591G>A	c.(4591-4593)GAG>AAG	p.E1531K		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1531	IV.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GTGGTGATCTCGAACAGGCAG	0.587													T	62019051	C	T	62019051	3	4	55	1	0	0	0	0	1	0	0	0	13920	893	31	1	923	1	SCN4A	17	62019051	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	121383	62019051	19176159	1496	42844											
SCN4A	6329	broad.mit.edu	37	chr17	62024461	62024461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcagggcccgcagtgtccGcagggatttgatgggtccca	15	12	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:62024461G>A	uc002jds.1	-	18	3462	c.3385C>T	c.(3385-3387)CGG>TGG	p.R1129W		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1129	III.|Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).		R -> Q (in NKPP and HOKPP2; detected in a family where three affected members manifested hypokalemic periodic paralysis whereas five other patients had normokalemic periodic paralysis).		muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	CGCAGTGTCCGCAGGGATTTG	0.667											OREG0024655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	62024461	G	A	62024461	3	1	55	1	0	0	0	0	1	0	0	0	13920	1086	38	1	2153	1	SCN4A	17	62024461	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5410	62024461	19170749	1497	42845											
DDX5	1655	broad.mit.edu	37	chr17	62496890	62496890	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaatttcacatcttccacAtctgtaaggtgttgcagtgt	7	9	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:62496890A>G	uc002jek.2	-	12	1465	c.1218T>C	c.(1216-1218)GAT>GAC	p.D406D	DDX5_uc010deh.2_Silent_p.D406D|DDX5_uc002jej.2_Silent_p.D301D|DDX5_uc010wqa.1_Silent_p.D327D	NM_004396	NP_004387	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5	406	Helicase C-terminal.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			ovary(2)|lung(1)	3	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CATCTTCCACATCTGTAAGGT	0.398			T	ETV4	prostate								G	62496890	A	G	62496890	2	3	55	1	0	0	0	0	0	0	0	1	4367	231	8	3		3	DDX5	17	62496890	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	472429	62496890	18698320	1498	42846											
AXIN2	8313	broad.mit.edu	37	chr17	63532585	63532585	+	Frame_Shift_Del	DEL	C	C	-													tgcgggggtgcccgctgttgCccccccacagatggtgccgg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:63532585delC	uc002jfi.2	-	8	2283	c.1994delG	c.(1993-1995)GGCfs	p.G665fs	AXIN2_uc002jfh.2_Frame_Shift_Del_p.G600fs	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	665					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						CCCGCTGTTGCCCCCCCACAG	0.657									Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				-	63532585	C	-	63532585	7	5	55	1	0	1	0	1	0	0	0	0	1237	739	26	0	553	0	AXIN2	17	63532585	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	1035695	63532585	17662625	1499	42847											
KPNA2	3838	broad.mit.edu	37	chr17	66038442	66038442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctcacatcagtgaacaaGctgtctgggctctaggaaac	10	10	4	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:66038442G>A	uc002jgk.2	+	5	676	c.544G>A	c.(544-546)GCT>ACT	p.A182T	KPNA2_uc002jgl.2_Missense_Mutation_p.A182T	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	182	NLS binding site (major) (By similarity).|ARM 3.				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			central_nervous_system(2)	2	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGTGAACAAGCTGTCTGGGC	0.443													A	66038442	G	A	66038442	3	1	55	1	0	0	0	0	1	0	0	0	8430	971	34	2	558	2	KPNA2	17	66038442	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2505857	66038442	15156768	1500	42848											
SLC16A6	9120	broad.mit.edu	37	chr17	66270150	66270151	+	Frame_Shift_Ins	INS	-	-	C													tcccggtgctgacaagtagcINSccccccaacatcactaccag							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:66270149_66270150G>GC	uc002jha.2	-	3	607_608	c.294_295C>GC	c.(292-297)gggctafs	p.G98fs	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Frame_Shift_Ins_p.G98fs	NM_001174166	NP_004685	O15403	MOT7_HUMAN	Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA.	98						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTGACAAGTAGCCCCCCCAACA	0.535													C	66270151	-	C	66270150	7	5	55	1	0	1	1	0	0	0	0	0	14412	726	26	0	1293	0	SLC16A6	17	66270150	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	231708	66270150	14925060	1501	42849											
ABCA6	23460	broad.mit.edu	37	chr17	67075398	67075398	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtattcttccaggttaaagtTatgcttcactggaggaaaaa	9	6	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:67075398T>C	uc002jhw.1	-	38	4880	c.4705A>G	c.(4705-4707)AAC>GAC	p.N1569D		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	1569					transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					AGGTTAAAGTTATGCTTCACT	0.313													C	67075398	T	C	67075398	3	2	55	1	0	0	0	0	1	0	0	0	36	1754	61	3	156	3	ABCA6	17	67075398	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	805248	67075398	14119812	1502	42850											
KCNJ16	3773	broad.mit.edu	37	chr17	68129031	68129031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctctgtatgcccttgaccGcaaagcagtagccaaagata	8	13	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:68129031G>A	uc002jin.2	+	5	1289	c.803G>A	c.(802-804)CGC>CAC	p.R268H	KCNJ16_uc002jio.2_Missense_Mutation_p.R268H|KCNJ16_uc002jip.2_Missense_Mutation_p.R268H|KCNJ16_uc002jiq.2_Missense_Mutation_p.R300H	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel J16	268	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Breast(10;2.96e-09)					GCCCTTGACCGCAAAGCAGTA	0.428													A	68129031	G	A	68129031	3	1	55	1	0	0	0	0	1	0	0	0	8050	1087	38	1	805	1	KCNJ16	17	68129031	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1053633	68129031	13066179	1503	42851											
KIAA0195	9772	broad.mit.edu	37	chr17	73484941	73484941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggccacagagcccccaGcagcaccggcttttccgtgt	12	15	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:73484941G>A	uc002jnz.3	+	7	989	c.714G>A	c.(712-714)CAG>CAA	p.Q238Q	KIAA0195_uc010wsa.1_Silent_p.Q248Q|KIAA0195_uc010wsb.1_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	238					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGAGCCCCCAGCAGCACCGGC	0.632													A	73484941	G	A	73484941	2	1	55	1	0	0	0	0	0	0	0	1	8160	962	34	2		2	KIAA0195	17	73484941	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5355910	73484941	7710269	1504	42852											
TRIM47	91107	broad.mit.edu	37	chr17	73870678	73870679	+	Frame_Shift_Del	DEL	AA	AA	-													ctgtgggtgaagagccccgcAaagtgactgtccaggcggct							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:73870678_73870679delAA	uc002jpw.2	-	6	1829_1830	c.1802_1803delTT	c.(1801-1803)TTTfs	p.F601fs	TRIM47_uc002jpv.2_Frame_Shift_Del_p.F363fs	NM_033452	NP_258411	Q96LD4	TRI47_HUMAN	tripartite motif-containing 47	601	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			ovary(2)|prostate(1)|lung(1)|breast(1)	5			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGAGCCCCGCAAAGTGACTGTC	0.649													-	73870679	AA	-	73870678	7	5	55	1	0	1	0	1	0	0	0	0	16519	127	5	0	117	0	TRIM47	17	73870678	Frame_Shift_Del	DEL	AA	TCGA-BR-7851-01A-11D-2201-08	385737	73870678	7324532	1505	42853											
EVPL	2125	broad.mit.edu	37	chr17	74003238	74003238	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcggtagcagcggtacccCtccagtgccgctggcaggag	16	13	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:74003238C>A	uc002jqi.2	-	22	6276	c.6048G>T	c.(6046-6048)GAG>GAT	p.E2016D	EVPL_uc010wss.1_Missense_Mutation_p.E2038D|EVPL_uc010wst.1_Missense_Mutation_p.E1486D	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	2016	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						AGCGGTACCCCTCCAGTGCCG	0.687													A	74003238	C	A	74003238	3	1	55	1	0	0	0	0	1	0	0	0	5292	680	24	5	57	5	EVPL	17	74003238	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	132560	74003238	7191972	1506	42854											
GALR2	8811	broad.mit.edu	37	chr17	74073381	74073381	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtccagcgacctgttgcacAtgagcgaggcggcgggggcc	17	12	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:74073381A>G	uc002jqm.1	+	2	1114	c.1033A>G	c.(1033-1035)ATG>GTG	p.M345V	ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	345	Cytoplasmic (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0						CCTGTTGCACATGAGCGAGGC	0.741													G	74073381	A	G	74073381	3	3	55	1	0	0	0	0	1	0	0	0	6228	217	8	3	1039	3	GALR2	17	74073381	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	70143	74073381	7121829	1507	42855											
LGALS3BP	3959	broad.mit.edu	37	chr17	76968444	76968444	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccagctccaggtgtccacGgccttcagtagggccagctc	11	17	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:76968444G>T	uc002jwh.2	-	6	1151	c.972C>A	c.(970-972)GCC>GCA	p.A324A	LGALS3BP_uc002jwi.2_Silent_p.A130A|LGALS3BP_uc010dhr.2_Silent_p.A130A	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	galectin 3 binding protein	324	BACK.				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			central_nervous_system(3)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGGTGTCCACGGCCTTCAGTA	0.672													T	76968444	G	T	76968444	2	4	55	1	0	0	0	0	0	0	0	1	8744	1103	39	5		5	LGALS3BP	17	76968444	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2895063	76968444	4226766	1508	42856											
CARD14	79092	broad.mit.edu	37	chr17	78176119	78176119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgaggtcctgcacgtcaccGacaccatgttccagggctgc	11	15	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:78176119G>A	uc002jxw.1	+	15	2314	c.2119G>A	c.(2119-2121)GAC>AAC	p.D707N	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.D707N|CARD14_uc010wud.1_RNA	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	707					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCACGTCACCGACACCATGTT	0.622													A	78176119	G	A	78176119	3	1	55	1	0	0	0	0	1	0	0	0	2646	1058	37	1	2338	1	CARD14	17	78176119	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1207675	78176119	3019091	1509	42857											
AATK	9625	broad.mit.edu	37	chr17	79108237	79108237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgatgacggcgaagagcccGgagaaagacacagccaccac	12	13	0	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:79108237G>A	uc010dia.2	-	2	200	c.120C>T	c.(118-120)TCC>TCT	p.S40S	MIR1250_hsa-mir-1250|MI0006385_5'Flank	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	40	Helical; (Potential).					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CGAAGAGCCCGGAGAAAGACA	0.667													A	79108237	G	A	79108237	2	1	55	1	0	0	0	0	0	0	0	1	26	1103	39	1		1	AATK	17	79108237	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	932118	79108237	2086973	1510	42858											
SLC38A10	124565	broad.mit.edu	37	chr17	79234093	79234093	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcctctccaagccggccGccaggggcttcctctgccaa	11	18	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:79234093G>A	uc002jzz.1	-	11	1608	c.1233C>T	c.(1231-1233)GGC>GGT	p.G411G	SLC38A10_uc002jzy.1_Silent_p.G329G|SLC38A10_uc002kab.2_Silent_p.G411G	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	411					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CAAGCCGGCCGCCAGGGGCTT	0.657													A	79234093	G	A	79234093	2	1	55	1	0	0	0	0	0	0	0	1	14602	1074	38	1		1	SLC38A10	17	79234093	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	125856	79234093	1961117	1511	42859											
BAHCC1	57597	broad.mit.edu	37	chr17	79411726	79411727	+	Frame_Shift_Ins	INS	-	-	C													tgccctgcaccagaacctgcINScccccggcttccccgcctcc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:79411725_79411726G>GC	uc002kaf.2	+	6	2358_2359	c.2358_2359G>GC	c.(2356-2361)ctgcccfs	p.L786fs	BAHCC1_uc002kae.2_Frame_Shift_Ins_p.L47fs	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	848							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			ACCAGAACCTGCCCCCCGGCTT	0.708													C	79411727	-	C	79411726	7	5	55	1	0	1	1	0	0	0	0	0	1296	739	26	0	2406	0	BAHCC1	17	79411726	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	177633	79411726	1783484	1512	42860											
C17orf70	80233	broad.mit.edu	37	chr17	79514275	79514275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgagggggcaagggccccGcccaccacctccctgagact	12	17	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:79514275G>A	uc002kaq.2	-	5	1888	c.1833C>T	c.(1831-1833)GGC>GGT	p.G611G	C17orf70_uc002kao.1_Silent_p.G260G|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Silent_p.G460G	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	611					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			ovary(1)|skin(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CAAGGGCCCCGCCCACCACCT	0.677													A	79514275	G	A	79514275	2	1	55	1	0	0	0	0	0	0	0	1	1877	1074	38	1		1	C17orf70	17	79514275	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	102549	79514275	1680935	1513	42861											
SMCHD1	23347	broad.mit.edu	37	chr18	2775770	2775770	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attgaagatgatagagctgcGatggttatttcttggcatct	11	5	2	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:2775770G>A	uc002klm.3	+	42	5403	c.5214G>A	c.(5212-5214)GCG>GCA	p.A1738A	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	1738					chromosome organization		ATP binding				0						ATAGAGCTGCGATGGTTATTT	0.373													A	2775770	G	A	2775770	2	1	55	1	0	0	0	0	0	0	0	1	14788	1045	37	1		1	SMCHD1	18	2775770	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08		2775770	75301478	1514	42862											
L3MBTL4	91133	broad.mit.edu	37	chr18	6241451	6241451	+	Splice_Site	DEL	A	A	-													atttatcttttctataacctAaaaaaagcacagattactca							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:6241450_6241450TA>T	uc002kmz.4	-	8	621	c.461_splice	c.e8-1	p.G154_splice	L3MBTL4_uc002kmy.4_Splice_Site_p.G154_splice|L3MBTL4_uc010dkt.3_Splice_Site_p.G154_splice	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	154					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTCTATAACCTAAAAAAAGCA	0.323													-	6241451	A	-	6241451	8	5	55	1	0	1	0	1	0	0	1	0	8594	377	13	0		0	L3MBTL4	18	6241451	Splice_Site	DEL	A	TCGA-BR-7851-01A-11D-2201-08	3465681	6241451	71835797	1515	42863											
ANKRD12	23253	broad.mit.edu	37	chr18	9255247	9255247	+	Frame_Shift_Del	DEL	A	A	-													attgaagcataaagagagggAaaaagaaaagcataaaaaag							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:9255247delA	uc002knv.2	+	9	2239	c.1982delA	c.(1981-1983)GAAfs	p.E661fs	ANKRD12_uc002knw.2_Frame_Shift_Del_p.E638fs|ANKRD12_uc002knx.2_Frame_Shift_Del_p.E638fs|ANKRD12_uc010dkx.1_Frame_Shift_Del_p.E368fs	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	661						nucleus				ovary(2)|central_nervous_system(1)	3						aaagagagggaaaaagaaaag	0.035													-	9255247	A	-	9255247	7	5	55	1	0	1	0	1	0	0	0	0	640	246	9	0	2012	0	ANKRD12	18	9255247	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	3013796	9255247	68822001	1516	42864											
GNAL	2774	broad.mit.edu	37	chr18	11876645	11876645	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagatgcaggagaagatccCaaagttacaagagccaagtt	10	9	0	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:11876645C>A	uc010dkz.2	+	12	1203	c.957C>A	c.(955-957)CCC>CCA	p.P319P	GNAL_uc002kqc.2_Silent_p.P396P|GNAL_uc002kqd.2_Silent_p.P319P|GNAL_uc010wzt.1_Silent_p.P112P	NM_001142339	NP_001135811	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein),	319					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						GAGAAGATCCCAAAGTTACAA	0.358													A	11876645	C	A	11876645	2	1	55	1	0	0	0	0	0	0	0	1	6507	581	21	5		5	GNAL	18	11876645	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2621398	11876645	66200603	1517	42865											
SPIRE1	56907	broad.mit.edu	37	chr18	12506563	12506563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatattcaatgggcaaaggGttgtactgccgctcttggac	12	8	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:12506563G>A	uc002kre.2	-	6	932	c.885C>T	c.(883-885)AAC>AAT	p.N295N	SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Silent_p.N175N|SPIRE1_uc010wzx.1_Silent_p.N98N|SPIRE1_uc010wzy.1_Silent_p.N295N	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	spire homolog 1 isoform a	295						cytoskeleton|perinuclear region of cytoplasm	actin binding				0						TGGGCAAAGGGTTGTACTGCC	0.448													A	12506563	G	A	12506563	2	1	55	1	0	0	0	0	0	0	0	1	15070	1252	44	4		4	SPIRE1	18	12506563	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	629918	12506563	65570685	1518	42866											
NPC1	4864	broad.mit.edu	37	chr18	21115622	21115622	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaggttgaagatagtgtcGtcaatgatggtcaggtactg	14	6	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:21115622G>A	uc002kum.3	-	22	3562	c.3288C>T	c.(3286-3288)GAC>GAT	p.D1096D	NPC1_uc010dlu.1_5'Flank|NPC1_uc010xaz.1_Silent_p.D829D	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	1096					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGATAGTGTCGTCAATGATGG	0.537													A	21115622	G	A	21115622	2	1	55	1	0	0	0	0	0	0	0	1	10570	1136	40	1		1	NPC1	18	21115622	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	8609059	21115622	56961626	1519	42867											
DSC2	1824	broad.mit.edu	37	chr18	28666590	28666590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcacgcctgtagttggatgCatagaaaatagggtgggtga	14	5	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:28666590C>T	uc002kwl.3	-	7	1345	c.891G>A	c.(889-891)ATG>ATA	p.M297I	DSC2_uc002kwk.3_Missense_Mutation_p.M297I	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	297	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TAGTTGGATGCATAGAAAATA	0.453													T	28666590	C	T	28666590	3	4	55	1	0	0	0	0	1	0	0	0	4766	710	25	2	1894	2	DSC2	18	28666590	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	7550968	28666590	49410658	1520	42868											
KIAA1012	22878	broad.mit.edu	37	chr18	29488794	29488794	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaactcttgtataaactgtcGaattctatcatgatcagtaa	6	7	4	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:29488794G>A	uc002kxc.3	-	7	1409	c.1045C>T	c.(1045-1047)CGA>TGA	p.R349*	KIAA1012_uc002kxb.3_Nonsense_Mutation_p.R295*|KIAA1012_uc002kxd.3_RNA|KIAA1012_uc002kxe.2_Nonsense_Mutation_p.R349*	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	349					ER to Golgi vesicle-mediated transport	cis-Golgi network					0						ATAAACTGTCGAATTCTATCA	0.338													A	29488794	G	A	29488794	4	1	55	1	0	0	0	0	0	1	0	0	8204	1066	37	1	3354	1	KIAA1012	18	29488794	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	822204	29488794	48588454	1521	42869											
NOL4	8715	broad.mit.edu	37	chr18	31803175	31803175	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccccgtaagtcctgaggcAccagtcctggaactggcggt	13	13	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:31803175A>G	uc010dmi.2	-	1	272	c.43T>C	c.(43-45)TGC>CGC	p.C15R	NOL4_uc002kxr.3_5'Flank|NOL4_uc010xbt.1_5'Flank|NOL4_uc010dmh.2_5'Flank|NOL4_uc010xbu.1_Missense_Mutation_p.C15R|NOL4_uc002kxt.3_Missense_Mutation_p.C15R	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	15						nucleolus	RNA binding			ovary(3)	3						GTCCTGAGGCACCAGTCCTGG	0.622													G	31803175	A	G	31803175	3	3	55	1	0	0	0	0	1	0	0	0	10524	159	6	3	1917	3	NOL4	18	31803175	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	2314381	31803175	46274073	1522	42870											
FHOD3	80206	broad.mit.edu	37	chr18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-													gcgatgagaccacggagccaCcccccagtgggtgccgggac							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:34205515_34205515AC>A	uc021uiv.1	+	9	1096	c.999_999AC>A	c.(997-999)ccafs	p.P333fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzt.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P158fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P86fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	333	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCACGGAGCCACCCCCCAGTG	0.677													-	34205516	C	-	34205516	7	5	55	1	0	1	0	1	0	0	0	0	5883	507	18	0	1038	0	FHOD3	18	34205516	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	2402341	34205516	43871732	1523	42871											
SLC14A2	8170	broad.mit.edu	37	chr18	43224100	43224100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactacctgacagtgaaaagCggtgaagaagagaaggcccc	12	9	0	5			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:43224100C>T	uc010dnj.2	+	11	1647	c.1326C>T	c.(1324-1326)AGC>AGT	p.S442S	SLC14A2_uc002lbb.2_Silent_p.S442S|SLC14A2_uc002lbe.2_Silent_p.S442S	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	442						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						CAGTGAAAAGCGGTGAAGAAG	0.547													T	43224100	C	T	43224100	2	4	55	1	0	0	0	0	0	0	0	1	14397	767	27	1		1	SLC14A2	18	43224100	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	9018584	43224100	34853148	1524	42872											
TCEB3B	51224	broad.mit.edu	37	chr18	44560047	44560047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacctgggcacactgctggCgcagcgtcggcacctggagc	15	15	0	0	rs151198704		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:44560047C>T	uc002lcr.1	-	1	1942	c.1589G>A	c.(1588-1590)CGC>CAC	p.R530H	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	530	Activation domain (By similarity).|Interacting with Elongin BC complex (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						ACACTGCTGGCGCAGCGTCGG	0.622													T	44560047	C	T	44560047	3	4	55	1	0	0	0	0	1	0	0	0	15679	768	27	1	676	1	TCEB3B	18	44560047	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1335947	44560047	33517201	1525	42873											
KATNAL2	83473	broad.mit.edu	37	chr18	44625662	44625662	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggagaagaggattctggtCgatctccccagccgggaggc	15	11	2	2	rs138624868	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:44625662C>T	uc002lco.2	+	13	1238	c.1044C>T	c.(1042-1044)GTC>GTT	p.V348V	KATNAL2_uc002lcp.3_Silent_p.V275V	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	420						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						GGATTCTGGTCGATCTCCCCA	0.587													T	44625662	C	T	44625662	2	4	55	1	0	0	0	0	0	0	0	1	7986	871	31	1		1	KATNAL2	18	44625662	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	65615	44625662	33451586	1526	42874											
HDHD2	84064	broad.mit.edu	37	chr18	44641701	44641701	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggattgctatcagaggTgctccatccaggagtaacct	11	9	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:44641701T>C	uc002lcs.2	-	5	547	c.414A>G	c.(412-414)GCA>GCG	p.A138A	HDHD2_uc002lct.2_Silent_p.A48A	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain	138							hydrolase activity				0						CTATCAGAGGTGCTCCATCCA	0.433													C	44641701	T	C	44641701	2	2	55	1	0	0	0	0	0	0	0	1	7023	1683	59	3		3	HDHD2	18	44641701	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	16039	44641701	33435547	1527	42875											
SMAD2	4087	broad.mit.edu	37	chr18	45372100	45372100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attacaattggggctctgcaCaaagattgcactatcactta	7	9	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:45372100C>T	uc002lcy.2	-	9	1317	c.1069G>A	c.(1069-1071)GTG>ATG	p.V357M	SMAD2_uc002lcz.2_Missense_Mutation_p.V357M|SMAD2_uc010xdc.1_Missense_Mutation_p.V327M|SMAD2_uc010xdd.1_Missense_Mutation_p.V327M	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Sma- and Mad-related protein 2 isoform 1	357	MH2.		Missing (in a colorectal carcinoma sample).		anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			large_intestine(3)|lung(1)|central_nervous_system(1)	5						GGGCTCTGCACAAAGATTGCA	0.403													T	45372100	C	T	45372100	3	4	55	1	0	0	0	0	1	0	0	0	14758	478	17	4	346	4	SMAD2	18	45372100	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	730399	45372100	32705148	1528	42876											
ZBTB7C	201501	broad.mit.edu	37	chr18	45566686	45566686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcagctgggcaaaggcacCgaagtcccctggccagaggt	15	12	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:45566686C>T	uc002lda.2	-	1	809	c.793G>A	c.(793-795)GGT>AGT	p.G265S	ZBTB7C_uc002ldb.2_Missense_Mutation_p.G265S|ZBTB7C_uc010dnu.2_Missense_Mutation_p.G274S|ZBTB7C_uc010dnv.2_Missense_Mutation_p.G287S|ZBTB7C_uc010dnw.2_Missense_Mutation_p.G265S|ZBTB7C_uc010dnx.1_Missense_Mutation_p.G265S|ZBTB7C_uc010dny.1_Missense_Mutation_p.G265S|ZBTB7C_uc010dnz.1_Missense_Mutation_p.G287S|ZBTB7C_uc010dob.1_Missense_Mutation_p.G265S|ZBTB7C_uc010doc.1_Missense_Mutation_p.G274S|ZBTB7C_uc010dod.1_Missense_Mutation_p.G287S|ZBTB7C_uc010doe.1_Missense_Mutation_p.G265S|ZBTB7C_uc010dof.1_Missense_Mutation_p.G265S|ZBTB7C_uc010dog.1_Missense_Mutation_p.G265S|ZBTB7C_uc010doh.1_Missense_Mutation_p.G274S|ZBTB7C_uc010doi.1_Missense_Mutation_p.G265S|ZBTB7C_uc010doj.1_Missense_Mutation_p.G274S|ZBTB7C_uc010dok.1_Missense_Mutation_p.G314S|ZBTB7C_uc010dol.1_Missense_Mutation_p.G274S|ZBTB7C_uc010doa.1_Missense_Mutation_p.G287S|ZBTB7C_uc010don.1_Missense_Mutation_p.G273S|ZBTB7C_uc010doo.1_Missense_Mutation_p.G265S|ZBTB7C_uc010dop.1_Missense_Mutation_p.G265S|ZBTB7C_uc010doq.1_Missense_Mutation_p.G274S|ZBTB7C_uc010dor.1_Missense_Mutation_p.G287S|ZBTB7C_uc010dos.1_Missense_Mutation_p.G265S|ZBTB7C_uc010dot.1_Missense_Mutation_p.G265S|ZBTB7C_uc010dou.1_Missense_Mutation_p.G274S|ZBTB7C_uc010dom.1_Missense_Mutation_p.G274S	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	265						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						GCAAAGGCACCGAAGTCCCCT	0.597													T	45566686	C	T	45566686	3	4	55	1	0	0	0	0	1	0	0	0	17552	652	23	1	1074	1	ZBTB7C	18	45566686	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	194586	45566686	32510562	1529	42877											
DCC	1630	broad.mit.edu	37	chr18	50985626	50985626	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggccacccacagtgctggCaaaaggaagggcagccagaa	14	12	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:50985626C>T	uc002lfe.1	+	24	4004	c.3417C>T	c.(3415-3417)GGC>GGT	p.G1139G	DCC_uc010dpf.1_Silent_p.G774G	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1139	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACAGTGCTGGCAAAAGGAAGG	0.458													T	50985626	C	T	50985626	2	4	55	1	0	0	0	0	0	0	0	1	4282	697	25	2		2	DCC	18	50985626	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	5418940	50985626	27091622	1530	42878											
WDR7	23335	broad.mit.edu	37	chr18	54358513	54358513	+	Frame_Shift_Del	DEL	G	G	-													aaaatggacagacatggaccGggggggactttgtctcatca							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:54358512_54358512CG>C	uc002lgk.1	+	7	994	c.783_783CG>C	c.(781-783)accfs	p.T261fs	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Frame_Shift_Del_p.T261fs	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	261								p.T261P(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGACATGGACCGGGGGGGACT	0.418													-	54358513	G	-	54358513	7	5	55	1	0	1	0	1	0	0	0	0	17317	1116	39	0	810	0	WDR7	18	54358513	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	3372887	54358513	23718735	1531	42879											
SERPINB2	5055	broad.mit.edu	37	chr18	61569682	61569682	+	Frame_Shift_Del	DEL	A	A	-													atgtacttgcgtgaaaagctAaacattggatacatagaaga							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:61569681_61569681TA>T	uc010xeu.2	+	7	1055	c.722_722TA>T	c.(721-723)ctafs	p.L241fs	SERPINB2_uc002ljo.3_Frame_Shift_Del_p.L241fs|SERPINB2_uc002ljp.1_Frame_Shift_Del_p.L46fs|SERPINB2_uc002ljq.1_Frame_Shift_Del_p.L46fs	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	241					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CGTGAAAAGCTAAACATTGGA	0.373													-	61569682	A	-	61569682	7	5	55	1	0	1	0	1	0	0	0	0	14101	349	13	0	745	0	SERPINB2	18	61569682	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	7211169	61569682	16507566	1532	42880											
CDH19	28513	broad.mit.edu	37	chr18	64218423	64218423	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggctgaccaatcatgTccttggcttgaatgattacc	8	12	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:64218423T>C	uc002lkc.1	-	5	821	c.683A>G	c.(682-684)GAC>GGC	p.D228G	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.D228G|CDH19_uc002lkd.2_Missense_Mutation_p.D228G	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	228	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				ACCAATCATGTCCTTGGCTTG	0.308													C	64218423	T	C	64218423	3	2	55	1	0	0	0	0	1	0	0	0	3104	1667	58	3	1667	3	CDH19	18	64218423	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	2648741	64218423	13858825	1533	42881											
DSEL	92126	broad.mit.edu	37	chr18	65178798	65178798	+	Frame_Shift_Del	DEL	A	A	-													gaagctcctaaaacttcctgAaaaaaatgaagctttaacgt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:65178797_65178797GA>G	uc002lke.1	-	1	4303	c.3079_3079TC>C	c.(3079-3081)cagfs	p.Q1027fs	DSEL_uc021ulg.1_Frame_Shift_Del_p.Q1027fs	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	1017						integral to membrane	isomerase activity|sulfotransferase activity	p.Q1027fs*4(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAAACTTCCTGAAAAAAATGA	0.408													-	65178798	A	-	65178798	7	5	55	1	0	1	0	1	0	0	0	0	4775	243	9	0	594	0	DSEL	18	65178798	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	960375	65178798	12898450	1534	42882											
ZNF407	55628	broad.mit.edu	37	chr18	72775812	72775812	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagatccagatgttcccacaGgcccaggagagcccggccgc	13	15	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:72775812G>T	uc002llw.2	+	8	6192	c.6135G>T	c.(6133-6135)CAG>CAT	p.Q2045H		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	2045					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGTTCCCACAGGCCCAGGAGA	0.687													T	72775812	G	T	72775812	3	4	55	1	0	0	0	0	1	0	0	0	17884	991	35	5	6295	5	ZNF407	18	72775812	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	7597014	72775812	5301436	1535	42883											
SALL3	27164	broad.mit.edu	37	chr18	76753092	76753092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcttctacctcagacttcCgccagcggcgtcatcttccc	7	19	4	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:76753092C>T	uc002lmt.2	+	2	1101	c.1101C>T	c.(1099-1101)TCC>TCT	p.S367S	SALL3_uc010dra.2_5'UTR	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CTCAGACTTCCGCCAGCGGCG	0.716													T	76753092	C	T	76753092	2	4	55	1	0	0	0	0	0	0	0	1	13812	639	23	1		1	SALL3	18	76753092	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3977280	76753092	1324156	1536	42884											
SALL3	27164	broad.mit.edu	37	chr18	76754571	76754571	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagctgccagcagctgacCggcctcaagtccgtggagaa	13	12	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:76754571C>T	uc002lmt.2	+	2	2580	c.2580C>T	c.(2578-2580)ACC>ACT	p.T860T	SALL3_uc010dra.2_Silent_p.T467T	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	860					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		AGCAGCTGACCGGCCTCAAGT	0.682													T	76754571	C	T	76754571	2	4	55	1	0	0	0	0	0	0	0	1	13812	639	23	1		1	SALL3	18	76754571	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1479	76754571	1322677	1537	42885											
GRIN3B	116444	broad.mit.edu	37	chr19	1007861	1007862	+	Frame_Shift_Ins	INS	-	-	C													ccggccccagcaggagcgacINSccccccaagctcaacgcctt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:1007860_1007861A>AC	uc002lqo.1	+	4	2204_2205	c.2204_2205A>AC	c.(2203-2205)gacfs	p.D735fs	FLJ00277_uc002lqp.1_Non-coding_Transcript	NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	735					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	AGCAGGAGCGACCCCCCCAAGC	0.708													C	1007862	-	C	1007861	7	5	55	1	0	1	1	0	0	0	0	0	6784	506	18	0	2223	0	GRIN3B	19	1007861	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08		1007861	58121122	1538	42886											
TLE2	7089	broad.mit.edu	37	chr19	3009702	3009702	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcagggggctcctcagggcTgagacggaagagtcggggac	19	9	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:3009702T>C	uc002lww.2	-	13	1276	c.1013_splice	c.e13-1	p.A338_splice	TLE2_uc010xhb.1_Intron|TLE2_uc010dth.2_Splice_Site_p.A339_splice|TLE2_uc010xhc.1_Splice_Site_p.A216_splice|TLE2_uc010dti.2_Splice_Site_p.A352_splice|TLE2_uc010xhd.1_Splice_Site_p.A246_splice	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1						negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCAGGGCTGAGACGGAAG	0.617													C	3009702	T	C	3009702	5	2	55	1	0	0	0	0	0	0	1	0	15936	1594	55	3	1252	3	TLE2	19	3009702	Splice_Site	SNP	T	TCGA-BR-7851-01A-11D-2201-08	2001841	3009702	56119281	1539	42887											
TBXA2R	6915	broad.mit.edu	37	chr19	3600363	3600363	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgccactcgaagagcgcGgcgtgctgggacaccacgat	15	13	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:3600363G>A	uc002lyg.1	-	2	484	c.270C>T	c.(268-270)GCC>GCT	p.A90A	TBXA2R_uc002lye.1_Silent_p.A90A	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	90	Extracellular (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CGAAGAGCGCGGCGTGCTGGG	0.672													A	3600363	G	A	3600363	2	1	55	1	0	0	0	0	0	0	0	1	15660	1103	39	1		1	TBXA2R	19	3600363	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	590661	3600363	55528620	1540	42888											
ZFR2	23217	broad.mit.edu	37	chr19	3823259	3823259	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacctcctccacatattcCgggcccaccggctgcgcatc	7	19	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:3823259C>T	uc002lyw.2	-	8	1368	c.1356G>A	c.(1354-1356)CCG>CCA	p.P452P	ZFR2_uc010xhx.1_RNA	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	452						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CCACATATTCCGGGCCCACCG	0.617													T	3823259	C	T	3823259	2	4	55	1	0	0	0	0	0	0	0	1	17657	639	23	1		1	ZFR2	19	3823259	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	222896	3823259	55305724	1541	42889											
EEF2	1938	broad.mit.edu	37	chr19	3981982	3981982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatcagctggcagaaggtgCgtggcagcttcttcccttcg	14	11	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:3981982C>T	uc002lze.2	-	6	943	c.860G>A	c.(859-861)CGC>CAC	p.R287H		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	287						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGAAGGTGCGTGGCAGCTT	0.612													T	3981982	C	T	3981982	3	4	55	1	0	0	0	0	1	0	0	0	4929	768	27	1	1756	1	EEF2	19	3981982	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	158723	3981982	55147001	1542	42890											
TICAM1	148022	broad.mit.edu	37	chr19	4818050	4818050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctggtaggccacgtcccGcagcgaggcggggcacagct	15	14	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:4818050G>A	uc002mbi.2	-	2	591	c.340C>T	c.(340-342)CGG>TGG	p.R114W		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	114					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GCCACGTCCCGCAGCGAGGCG	0.682													A	4818050	G	A	4818050	3	1	55	1	0	0	0	0	1	0	0	0	15889	1086	38	1	1802	1	TICAM1	19	4818050	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	836068	4818050	54310933	1543	42891											
SAFB2	9667	broad.mit.edu	37	chr19	5587937	5587937	+	Silent	SNP	G	G	A													tccatggcaccctgccaggcGcgtgcctggtgctcctctag							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:5587937G>A	uc002mcd.2	-	19	2792	c.2580C>T	c.(2578-2580)CGC>CGT	p.R860R		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	860	Interacts with SAFB1.|Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CCTGCCAGGCGCGTGCCTGGT	0.662													A	5587937	G	A	5587937	2	1	55	1	0	0	0	0	0	0	0	1	13807	1074	38	1		1	SAFB2	19	5587937	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	769887	5587937	53541046	1544	42892	150	2									
SAFB2	9667	broad.mit.edu	37	chr19	5587943	5587943	+	Silent	SNP	C	C	T													gcaccctgccaggcgcgtgcCtggtgctcctctagccgctg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:5587943C>T	uc002mcd.2	-	19	2786	c.2574G>A	c.(2572-2574)CAG>CAA	p.Q858Q		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	858	Interacts with SAFB1.|Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		AGGCGCGTGCCTGGTGCTCCT	0.652													T	5587943	C	T	5587943	2	4	55	1	0	0	0	0	0	0	0	1	13807	680	24	4		4	SAFB2	19	5587943	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	6	5587943	53541040	1545	42893	150	2									
C19orf70	125988	broad.mit.edu	37	chr19	5679654	5679655	+	Frame_Shift_Ins	INS	-	-	G													ggctgaactggtacatggcgINSggggggaccacctccccagc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:5679653_5679654C>CG	uc002mch.1	-	1	564_565	c.150_151G>CG	c.(148-153)cccgccfs	p.P50fs	C19orf70_uc002mci.1_3'UTR|HSD11B1L_uc002mcj.3_5'Flank|HSD11B1L_uc002mck.3_5'Flank|HSD11B1L_uc002mcu.3_5'Flank|HSD11B1L_uc002mcn.3_5'Flank|HSD11B1L_uc002mco.3_5'Flank|HSD11B1L_uc002mcp.3_5'Flank|HSD11B1L_uc002mcr.3_5'Flank|HSD11B1L_uc002mcq.3_5'Flank|HSD11B1L_uc010dug.3_5'Flank|HSD11B1L_uc002mct.3_5'Flank|HSD11B1L_uc002mcl.3_5'Flank	NM_205767	NP_991330	Q5XKP0	QIL1_HUMAN	Homo sapiens chromosome 19 open reading frame 70 (C19orf70), mRNA.	50							protein binding			endometrium(1)|lung(1)	2						TGGTACATGGCGGGGGGGACCA	0.663													G	5679655	-	G	5679654	7	5	55	1	0	1	1	0	0	0	0	0	1947	1103	39	0	218	0	C19orf70	19	5679654	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	91711	5679654	53449329	1546	42894											
FUT3	2525	broad.mit.edu	37	chr19	5844584	5844584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcagtgatgtggcagtcGgctgtgccgggcaccatctc	15	12	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:5844584G>A	uc002mdk.2	-	2	364	c.267C>T	c.(265-267)GCC>GCT	p.A89A	FUT3_uc002mdm.2_Silent_p.A89A|FUT3_uc002mdj.2_Silent_p.A89A|FUT3_uc002mdl.2_Silent_p.A89A|uc002mdn.2_5'Flank	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	fucosyltransferase 3	89	Lumenal (Potential).				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity				0						TGTGGCAGTCGGCTGTGCCGG	0.617													A	5844584	G	A	5844584	2	1	55	1	0	0	0	0	0	0	0	1	6105	1103	39	1		1	FUT3	19	5844584	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	164930	5844584	53284399	1547	42895											
TUBB4	10382	broad.mit.edu	37	chr19	6495655	6495655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggtgagctcgggcacCgtcagggcccggtactgctg	17	12	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:6495655C>T	uc002mfg.1	-	4	962	c.855G>A	c.(853-855)ACG>ACA	p.T285T	TUBB4_uc002mff.1_Silent_p.T213T|MIR220B_hsa-mir-220b|MI0005529_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	285					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		GCTCGGGCACCGTCAGGGCCC	0.677													T	6495655	C	T	6495655	2	4	55	1	0	0	0	0	0	0	0	1	16755	639	23	1		1	TUBB4	19	6495655	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	651071	6495655	52633328	1548	42896											
TNFSF14	8740	broad.mit.edu	37	chr19	6669903	6669903	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctagacgccagtgcagctGcaggaggaaccagccttgga	13	12	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:6669903G>A	uc002mfk.1	-	2	560	c.178C>T	c.(178-180)CAG>TAG	p.Q60*	TNFSF14_uc002mfj.1_Intron	NM_003807	NP_003798	O43557	TNF14_HUMAN	tumor necrosis factor ligand superfamily, member	60	Extracellular (Potential).				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			skin(1)	1						CAGTGCAGCTGCAGGAGGAAC	0.667													A	6669903	G	A	6669903	4	1	55	1	0	0	0	0	0	1	0	0	16304	1328	46	2	560	2	TNFSF14	19	6669903	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	174248	6669903	52459080	1549	42897											
VAV1	7409	broad.mit.edu	37	chr19	6821668	6821668	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgctctgtcctggaccccGatcgcccagaacagggggat	12	14	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:6821668G>A	uc002mfu.1	+	3	454	c.357G>A	c.(355-357)CCG>CCA	p.P119P	VAV1_uc010xjh.1_Silent_p.P119P|VAV1_uc010dva.1_Silent_p.P119P|VAV1_uc002mfv.1_Silent_p.P64P	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	119	CH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						CCTGGACCCCGATCGCCCAGA	0.627													A	6821668	G	A	6821668	2	1	55	1	0	0	0	0	0	0	0	1	17128	1045	37	1		1	VAV1	19	6821668	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	151765	6821668	52307315	1550	42898											
ARHGEF18	23370	broad.mit.edu	37	chr19	7527207	7527207	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggagctaattctcaagtcGgccatgagcgagagtaagtt	14	7	1	2	rs149045020	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:7527207G>A	uc002mgi.2	+	11	2311	c.2058G>A	c.(2056-2058)TCG>TCA	p.S686S	ARHGEF18_uc010xjm.1_Silent_p.S528S|ARHGEF18_uc002mgh.2_Silent_p.S528S|ARHGEF18_uc002mgj.1_Silent_p.S329S	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	686					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				TTCTCAAGTCGGCCATGAGCG	0.652													A	7527207	G	A	7527207	2	1	55	1	0	0	0	0	0	0	0	1	901	1103	39	1		1	ARHGEF18	19	7527207	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	705539	7527207	51601776	1551	42899											
ZNF358	140467	broad.mit.edu	37	chr19	7584410	7584410	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtcttcgagtttcgacctCgatccagatgtgattggccc	10	11	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:7584410C>T	uc002mgn.2	+	2	452	c.282C>T	c.(280-282)CTC>CTT	p.L94L		NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	94					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						GTTTCGACCTCGATCCAGATG	0.607													T	7584410	C	T	7584410	2	4	55	1	0	0	0	0	0	0	0	1	17864	871	31	1		1	ZNF358	19	7584410	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	57203	7584410	51544573	1552	42900											
PNPLA6	10908	broad.mit.edu	37	chr19	7605913	7605913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtcttcaccaagtacccGgagagcttggtgcgggtcgt	15	11	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:7605913G>A	uc010xjq.1	+	9	1122	c.927G>A	c.(925-927)CCG>CCA	p.P309P	PNPLA6_uc002mgq.1_Silent_p.P261P|PNPLA6_uc010xjp.1_Silent_p.P261P|PNPLA6_uc002mgr.1_Silent_p.P261P|PNPLA6_uc002mgs.2_Silent_p.P300P	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	300	cNMP 1.|Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						CCAAGTACCCGGAGAGCTTGG	0.697													A	7605913	G	A	7605913	2	1	55	1	0	0	0	0	0	0	0	1	12169	1103	39	1		1	PNPLA6	19	7605913	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	21503	7605913	51523070	1553	42901											
XAB2	56949	broad.mit.edu	37	chr19	7684652	7684657	+	In_Frame_Del	DEL	CTCGTC	CTCGTC	-													ccgttgggctccaggtccatCtcgtcctcgtcctcgtcctc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:7684651_7684656TCTCGTC>T	uc002mgx.3	-	17	2509_2514	c.2483_2488GACGAGA>A	c.(2482-2490)gacgagatg>gAtg	p.EM829del		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	829					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TCCAGGTCCATCTCGTCCTCGTCCTC	0.704								Direct reversal of damage;Nucleotide excision repair (NER)					-	7684657	CTCGTC	-	7684652	7	5	55	1	0	1	0	1	0	0	0	0	17415	912	32	0	88	0	XAB2	19	7684652	In_Frame_Del	DEL	CTCGTC	TCGA-BR-7851-01A-11D-2201-08	78739	7684652	51444331	1554	42902											
FBN3	84467	broad.mit.edu	37	chr19	8193949	8193950	+	Frame_Shift_Ins	INS	-	-	G													cctgccagaagtggaagccgINSggggggcaggagcagctgta					rs60853419		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:8193948_8193949C>CG	uc002mjf.3	-	16	2276_2277	c.2259_2260G>CG	c.(2257-2262)cccggcfs	p.P753fs		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	753	EGF-like 9; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AAGTGGAAGCCGGGGGGGCAGG	0.599													G	8193950	-	G	8193949	7	5	55	1	0	1	1	0	0	0	0	0	5704	1103	39	0	6358	0	FBN3	19	8193949	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	509297	8193949	50935034	1555	42903											
LASS4	79603	broad.mit.edu	37	chr19	8320751	8320751	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttcgtgggcggcctctcGgtcctgtaccacgtgagtat	12	13	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:8320751G>A	uc002mjg.2	+	6	776	c.456G>A	c.(454-456)TCG>TCA	p.S152S	LASS4_uc002mjh.2_Silent_p.S101S|LASS4_uc002mji.2_5'UTR|LASS4_uc010dvz.2_Silent_p.S152S	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN	LAG1 homolog, ceramide synthase 4	152	TLC.|Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			ovary(1)	1						GCGGCCTCTCGGTCCTGTACC	0.617													A	8320751	G	A	8320751	2	1	55	1	0	0	0	0	0	0	0	1	8641	1103	39	1		1	LASS4	19	8320751	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	126802	8320751	50808232	1556	42904											
ADAMTS10	81794	broad.mit.edu	37	chr19	8656953	8656953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtccacaccctctgggcgcGacccaaaggggacacagacc	11	17	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:8656953G>A	uc002mkj.1	-	14	1896	c.1622C>T	c.(1621-1623)TCG>TTG	p.S541L	ADAMTS10_uc002mki.1_Missense_Mutation_p.R32C|ADAMTS10_uc002mkk.1_Missense_Mutation_p.S173L	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	541	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						CTCTGGGCGCGACCCAAAGGG	0.682													A	8656953	G	A	8656953	3	1	55	1	0	0	0	0	1	0	0	0	256	1059	37	1	1741	1	ADAMTS10	19	8656953	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	336202	8656953	50472030	1557	42905											
ADAMTS10	81794	broad.mit.edu	37	chr19	8668665	8668665	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgcagagaggaacgcttgTacaccacatgtggtccactt	11	11	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:8668665T>C	uc002mkj.1	-	5	813	c.539A>G	c.(538-540)TAC>TGC	p.Y180C	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	180					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						GGAACGCTTGTACACCACATG	0.592													C	8668665	T	C	8668665	3	2	55	1	0	0	0	0	1	0	0	0	256	1638	57	3	2860	3	ADAMTS10	19	8668665	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	11712	8668665	50460318	1558	42906											
ACTL9	284382	broad.mit.edu	37	chr19	8807972	8807972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtctcggctggcagagcGcgcagcagctctgcccggaa	16	13	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:8807972G>A	uc002mkl.2	-	1	1201	c.1080C>T	c.(1078-1080)CGC>CGT	p.R360R		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	360						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						CTGGCAGAGCGCGCAGCAGCT	0.672													A	8807972	G	A	8807972	2	1	55	1	0	0	0	0	0	0	0	1	203	1074	38	1		1	ACTL9	19	8807972	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	139307	8807972	50321011	1559	42907											
MUC16	94025	broad.mit.edu	37	chr19	9000147	9000147	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggctgttctcagttctcacCtgagcaaggtcagtctgcag	11	11	4	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:9000147C>A	uc002mkp.2	-	55	40814	c.40610G>T	c.(40609-40611)AGG>ATG	p.R13537M	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.R354M|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13539	SEA 10.|Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CAGTTCTCACCTGAGCAAGGT	0.577													A	9000147	C	A	9000147	3	1	55	1	0	0	0	0	1	0	0	0	9973	695	24	5	3033	5	MUC16	19	9000147	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	192175	9000147	50128836	1560	42908											
MUC16	94025	broad.mit.edu	37	chr19	9089934	9089934	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatgatgctgtggctctggtGagtaggtgggttgtgccctg	18	6	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:9089934G>A	uc002mkp.2	-	1	2085	c.1881C>T	c.(1879-1881)CTC>CTT	p.L627L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	627	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGGCTCTGGTGAGTAGGTGGG	0.587													A	9089934	G	A	9089934	2	1	55	1	0	0	0	0	0	0	0	1	9973	1277	45	4		4	MUC16	19	9089934	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	89787	9089934	50039049	1561	42909											
EIF3G	8666	broad.mit.edu	37	chr19	10226201	10226201	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcgtagccaaagccggAcaccccggcaatggcacgcg	14	14	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:10226201A>G	uc002mnd.2	-	10	965	c.901T>C	c.(901-903)TCC>CCC	p.S301P		NM_003755	NP_003746	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3,	301	RRM.					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CCAAAGCCGGACACCCCGGCA	0.652													G	10226201	A	G	10226201	3	3	55	1	0	0	0	0	1	0	0	0	5017	275	10	3	69	3	EIF3G	19	10226201	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1136267	10226201	48902782	1562	42910											
PDE4A	5141	broad.mit.edu	37	chr19	10531499	10531499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtcactgcccgggccccGggagggccaggccaccctga	14	17	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:10531499G>A	uc002moj.2	+	1	167	c.59G>A	c.(58-60)CGG>CAG	p.R20Q		NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	phosphodiesterase 4A isoform 1	20					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CCCGGGCCCCGGGAGGGCCAG	0.741													A	10531499	G	A	10531499	3	1	55	1	0	0	0	0	1	0	0	0	11639	1116	39	1	61	1	PDE4A	19	10531499	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	305298	10531499	48597484	1563	42911											
KEAP1	9817	broad.mit.edu	37	chr19	10610652	10610652	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctcagggcactgtgactGcaggggcaggaatcggcagc	15	13	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:10610652G>A	uc002moq.1	-	2	214	c.58C>T	c.(58-60)CAG>TAG	p.Q20*	KEAP1_uc002mor.1_Nonsense_Mutation_p.Q20*	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CACTGTGACTGCAGGGGCAGG	0.652													A	10610652	G	A	10610652	4	1	55	1	0	0	0	0	0	1	0	0	8141	1328	46	2	1836	2	KEAP1	19	10610652	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	79153	10610652	48518331	1564	42912											
SMARCA4	6597	broad.mit.edu	37	chr19	11107211	11107211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacgcctgccattgggccGgatggcgaggtgaggaagca	17	10	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:11107211G>A	uc002mqf.3	+	11	2087	c.1803G>A	c.(1801-1803)CCG>CCA	p.P601P	SMARCA4_uc010dxp.2_Silent_p.P601P|SMARCA4_uc010dxo.2_Silent_p.P601P|SMARCA4_uc002mqg.1_Silent_p.P601P|SMARCA4_uc010dxq.2_Silent_p.P601P|SMARCA4_uc010dxr.2_Silent_p.P601P|SMARCA4_uc002mqj.3_Silent_p.P601P|SMARCA4_uc010dxs.2_Silent_p.P601P	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	601					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCATTGGGCCGGATGGCGAGG	0.507			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				A	11107211	G	A	11107211	2	1	55	1	0	0	0	0	0	0	0	1	14770	1103	39	1		1	SMARCA4	19	11107211	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	496559	11107211	48021772	1565	42913											
ELAVL3	1995	broad.mit.edu	37	chr19	11569369	11569369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcatggtcttggggagccCgctgacgtacaggttagcat	14	10	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:11569369C>T	uc002mry.1	-	4	771	c.391G>A	c.(391-393)GGG>AGG	p.G131R	ELAVL3_uc002mrx.1_Missense_Mutation_p.G131R	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	131	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)|skin(1)	3						TTGGGGAGCCCGCTGACGTAC	0.602													T	11569369	C	T	11569369	3	4	55	1	0	0	0	0	1	0	0	0	5051	652	23	1	728	1	ELAVL3	19	11569369	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	462158	11569369	47559614	1566	42914											
ZNF653	115950	broad.mit.edu	37	chr19	11597866	11597866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccgtccagctcctcccCgtccgcctctgcctcaggct	9	21	2	0	rs141445219	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:11597866C>T	uc002mrz.1	-	5	1332	c.1279G>A	c.(1279-1281)GGG>AGG	p.G427R		NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	zinc finger protein 653	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGCTCCTCCCCGTCCGCCTCT	0.642													T	11597866	C	T	11597866	3	4	55	1	0	0	0	0	1	0	0	0	18063	652	23	1	588	1	ZNF653	19	11597866	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	28497	11597866	47531117	1567	42915											
ZNF700	90592	broad.mit.edu	37	chr19	12060023	12060023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctataaatgcaagcaatGtggtaaagccttcaatcttt	7	8	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:12060023G>A	uc002msu.2	+	4	1310	c.1184G>A	c.(1183-1185)TGT>TAT	p.C395Y	ZNF700_uc010xme.1_Missense_Mutation_p.C413Y|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	395	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGCAAGCAATGTGGTAAAGCC	0.388													A	12060023	G	A	12060023	3	1	55	1	0	0	0	0	1	0	0	0	18101	1377	48	4	1198	4	ZNF700	19	12060023	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	462157	12060023	47068960	1568	42916											
ZNF433	163059	broad.mit.edu	37	chr19	12126523	12126523	+	Frame_Shift_Del	DEL	T	T	-													gggtttctctccagtgtgagTtttttcatgtgtttgaagtg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:12126522_12126522GT>G	uc002msy.1	-	3	1331	c.1160_1160AC>C	c.(1159-1161)actfs	p.T387fs	AX747405_uc002msx.1_Intron|ZNF433_uc002msz.1_Frame_Shift_Del_p.T352fs	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	Homo sapiens zinc finger protein 433 (ZNF433), mRNA.	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TCCAGTGTGAGTTTTTTCATG	0.388													-	12126523	T	-	12126523	7	5	55	1	0	1	0	1	0	0	0	0	17904	1725	60	0	866	0	ZNF433	19	12126523	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	66500	12126523	47002460	1569	42917											
ZNF799	90576	broad.mit.edu	37	chr19	12501767	12501767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaacaactgaatgctttcCcacattccttacactcatat	4	12	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:12501767C>T	uc010dyt.2	-	4	1595	c.1445G>A	c.(1444-1446)GGG>GAG	p.G482E	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	482	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						GAATGCTTTCCCACATTCCTT	0.373													T	12501767	C	T	12501767	3	4	55	1	0	0	0	0	1	0	0	0	18163	623	22	4	490	4	ZNF799	19	12501767	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	375244	12501767	46627216	1570	42918											
FBXW9	84261	broad.mit.edu	37	chr19	12800856	12800856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcctgagatgatgtgccGgtcatccgccagcagggtca	14	12	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:12800856G>A	uc010dyx.2	-	6	1012	c.1012C>T	c.(1012-1014)CGG>TGG	p.R338W	FBXW9_uc010xmp.1_RNA|uc002mul.1_3'UTR|FBXW9_uc002mum.1_Missense_Mutation_p.R318W|FBXW9_uc002mun.1_Missense_Mutation_p.R155W	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	F-box and WD-40 domain protein 9	348	WD 4.						protein binding			ovary(1)	1						ATGATGTGCCGGTCATCCGCC	0.667													A	12800856	G	A	12800856	3	1	55	1	0	0	0	0	1	0	0	0	5771	1115	39	1	444	1	FBXW9	19	12800856	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	299089	12800856	46328127	1571	42919											
MAST1	22983	broad.mit.edu	37	chr19	12985485	12985485	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcctccccaaagctctcccCggagccccagacaccctccc	6	24	1	1	rs144944600		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:12985485C>A	uc002mvm.2	+	26	4642	c.4514C>A	c.(4513-4515)CCG>CAG	p.P1505Q		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1505					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						AAGCTCTCCCCGGAGCCCCAG	0.706													A	12985485	C	A	12985485	3	1	55	1	0	0	0	0	1	0	0	0	9324	652	23	5	4616	5	MAST1	19	12985485	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	184629	12985485	46143498	1572	42920											
TRMT1	55621	broad.mit.edu	37	chr19	13226178	13226178	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagatccacagcccgggtggAggcatcgtttgcaaccacag	13	12	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:13226178A>C	uc002mwj.2	-	4	806	c.556T>G	c.(556-558)TCC>GCC	p.S186A	NACC1_uc002mwm.2_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.S186A|TRMT1_uc002mwl.3_Missense_Mutation_p.S186A|TRMT1_uc010xmz.1_5'UTR	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	186							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GCCCGGGTGGAGGCATCGTTT	0.597													C	13226178	A	C	13226178	3	2	55	1	0	0	0	0	1	0	0	0	16558	304	11	5	1475	5	TRMT1	19	13226178	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	240693	13226178	45902805	1573	42921											
C19orf57	79173	broad.mit.edu	37	chr19	13993680	13993681	+	Frame_Shift_Ins	INS	-	-	G													cccttggaagggtaaggcagINSgggggctttgcctcccagct							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:13993679_13993680A>AG	uc002mxl.1	-	7	1908_1909	c.1849_1850T>CT	c.(1849-1851)ctgfs	p.L617fs	C19orf57_uc002mxk.1_Frame_Shift_Ins_p.L530fs	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	648					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			AGGGTAAGGCAGGGGGGCTTTG	0.604													G	13993681	-	G	13993680	7	5	55	1	0	1	1	0	0	0	0	0	1939	991	35	0	68	0	C19orf57	19	13993680	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	767502	13993680	45135303	1574	42922											
IL27RA	9466	broad.mit.edu	37	chr19	14157020	14157020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctggttctgggttggaggtCgtgagctgagtccagaagga	17	6	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:14157020C>T	uc002mxx.2	+	7	1246	c.823C>T	c.(823-825)CGT>TGT	p.R275C		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	class I cytokine receptor precursor	275	Extracellular (Potential).				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0						GGTTGGAGGTCGTGAGCTGAG	0.577													T	14157020	C	T	14157020	3	4	55	1	0	0	0	0	1	0	0	0	7681	884	31	1	849	1	IL27RA	19	14157020	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	163340	14157020	44971963	1575	42923											
LPHN1	22859	broad.mit.edu	37	chr19	14261714	14261714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaccagctgcatctgccCgtccccatcgggccctggcc	12	18	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:14261714C>T	uc010xnn.1	-	24	4692	c.4396G>A	c.(4396-4398)GGG>AGG	p.G1466R	LPHN1_uc010xno.1_Missense_Mutation_p.G1461R|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	1466	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						TGCATCTGCCCGTCCCCATCG	0.701													T	14261714	C	T	14261714	3	4	55	1	0	0	0	0	1	0	0	0	8915	652	23	1	32	1	LPHN1	19	14261714	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	104694	14261714	44867269	1576	42924											
LPHN1	22859	broad.mit.edu	37	chr19	14266920	14266920	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggcaggggcgaggctcActtaatgttgtccaggcggc	17	10	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:14266920A>G	uc010xnn.1	-	18	3436	c.3140_splice	c.e18+1	p.K1047_splice	LPHN1_uc010xno.1_Splice_Site_p.K1042_splice|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						GGCGAGGCTCACTTAATGTTG	0.537													G	14266920	A	G	14266920	5	3	55	1	0	0	0	0	0	0	1	0	8915	173	6	3	1310	3	LPHN1	19	14266920	Splice_Site	SNP	A	TCGA-BR-7851-01A-11D-2201-08	5206	14266920	44862063	1577	42925											
LPHN1	22859	broad.mit.edu	37	chr19	14273846	14273846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcggtctttccgccccagCggtagggcgaggtgtcatgg	16	11	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:14273846C>T	uc010xnn.1	-	6	1078	c.782G>A	c.(781-783)CGC>CAC	p.R261H	LPHN1_uc010xno.1_Missense_Mutation_p.R256H|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	261	Olfactomedin-like.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						TCCGCCCCAGCGGTAGGGCGA	0.622													T	14273846	C	T	14273846	3	4	55	1	0	0	0	0	1	0	0	0	8915	768	27	1	3718	1	LPHN1	19	14273846	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	6926	14273846	44855137	1578	42926											
SLC1A6	6511	broad.mit.edu	37	chr19	15065111	15065111	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacccaggccctcctccagGcagcggaaggtgatgggcag	14	14	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:15065111G>A	uc002naa.1	-	7	1208	c.1200C>T	c.(1198-1200)TGC>TGT	p.C400C	SLC1A6_uc010dzu.1_Silent_p.C322C|SLC1A6_uc010xod.1_Silent_p.C336C	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	400					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	CCTCCTCCAGGCAGCGGAAGG	0.697													A	15065111	G	A	15065111	2	1	55	1	0	0	0	0	0	0	0	1	14436	1195	42	2		2	SLC1A6	19	15065111	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	791265	15065111	44063872	1579	42927											
CYP4F12	66002	broad.mit.edu	37	chr19	15791216	15791216	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactaggagaagggatactgCtgagtggcggtgacaagtgg	17	5	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:15791216C>T	uc002nbl.2	+	5	473	c.412C>T	c.(412-414)CTG>TTG	p.L138L	CYP4F12_uc010xoo.1_Silent_p.L138L|CYP4F12_uc010xop.1_Missense_Mutation_p.A169V	NM_023944	NP_076433			cytochrome P450, family 4, subfamily F,											skin(3)|ovary(2)|central_nervous_system(2)	7	Acute lymphoblastic leukemia(2;0.0367)					AGGGATACTGCTGAGTGGCGG	0.572													T	15791216	C	T	15791216	2	4	55	1	0	0	0	0	0	0	0	1	4187	796	28	2		2	CYP4F12	19	15791216	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	726105	15791216	43337767	1580	42928											
OR10H5	284433	broad.mit.edu	37	chr19	15905398	15905398	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaccatttcttctgccaCgtgccacctctgttgaagtt	6	14	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:15905398C>T	uc010xos.1	+	1	540	c.540C>T	c.(538-540)CAC>CAT	p.H180H		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H,	180	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TCTTCTGCCACGTGCCACCTC	0.587													T	15905398	C	T	15905398	2	4	55	1	0	0	0	0	0	0	0	1	10909	535	19	1		1	OR10H5	19	15905398	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	114182	15905398	43223585	1581	42929											
C19orf44	84167	broad.mit.edu	37	chr19	16628088	16628090	+	In_Frame_Del	DEL	GGA	GGA	-													ctgaccatggaggatgccctGgaggaggtgaacaaggagct							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:16628087_16628089TGGA>T	uc002neh.1	+	7	2022_2024	c.1949_1951TGGA>T	c.(1948-1953)ctggag>cTag	p.E652del	MED26_uc002nee.2_Intron|C19orf44_uc002neg.3_In_Frame_Del_p.E620del|C19orf44_uc010eai.1_Non-coding_Transcript	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA.	652										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GAGGATGCCCTGGAGGAGGTGAA	0.562													-	16628090	GGA	-	16628088	7	5	55	1	0	1	0	1	0	0	0	0	1927	1335	47	0	1976	0	C19orf44	19	16628088	In_Frame_Del	DEL	GGA	TCGA-BR-7851-01A-11D-2201-08	722690	16628088	42500895	1582	42930											
NWD1	284434	broad.mit.edu	37	chr19	16875869	16875869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgagctggatttcctgccGgggcatctctgggggcattg	15	10	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:16875869G>A	uc002neu.3	+	10	2698	c.2276G>A	c.(2275-2277)CGG>CAG	p.R759Q	NWD1_uc002net.3_Missense_Mutation_p.R624Q|NWD1_uc002nev.3_Missense_Mutation_p.R553Q			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	759							ATP binding			skin(3)|ovary(2)|pancreas(2)	7						ATTTCCTGCCGGGGCATCTCT	0.602													A	16875869	G	A	16875869	3	1	55	1	0	0	0	0	1	0	0	0	10781	1116	39	1	1893	1	NWD1	19	16875869	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	247781	16875869	42253114	1583	42931											
ABHD8	79575	broad.mit.edu	37	chr19	17412369	17412369	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctccagtggccccacggcGttggggggcgtgcccagcag	16	15	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:17412369G>A	uc002ngb.3	-	2	297	c.57C>T	c.(55-57)AAC>AAT	p.N19N		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	19							hydrolase activity				0						GCCCCACGGCGTTGGGGGGCG	0.652													A	17412369	G	A	17412369	2	1	55	1	0	0	0	0	0	0	0	1	87	1136	40	1		1	ABHD8	19	17412369	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	536500	17412369	41716614	1584	42932											
BST2	684	broad.mit.edu	37	chr19	17516268	17516268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtgaagataatcaagggCacccccagaatcacgatgat	10	9	2	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:17516268C>T	uc002ngl.2	-	1	126	c.117G>A	c.(115-117)GTG>GTA	p.V39V	uc010eat.1_5'Flank|uc002ngm.1_5'Flank	NM_004335	NP_004326	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2 precursor	39	Helical; Signal-anchor for type II membrane protein; (Potential).				B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade	anchored to membrane|Golgi apparatus|integral to plasma membrane|late endosome	protein homodimerization activity|signal transducer activity			ovary(3)	3						TAATCAAGGGCACCCCCAGAA	0.552													T	17516268	C	T	17516268	2	4	55	1	0	0	0	0	0	0	0	1	1534	697	25	2		2	BST2	19	17516268	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	103899	17516268	41612715	1585	42933											
MAP1S	55201	broad.mit.edu	37	chr19	17844195	17844195	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatgcgggccgtcctggaCgcgctactggccagcaagca	15	14	0	0	rs147584152		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:17844195C>T	uc002nhe.1	+	6	2991	c.2982C>T	c.(2980-2982)GAC>GAT	p.D994D	MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Silent_p.D242D|MAP1S_uc010xpv.1_Silent_p.D968D	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	994	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						CCGTCCTGGACGCGCTACTGG	0.622													T	17844195	C	T	17844195	2	4	55	1	0	0	0	0	0	0	0	1	9234	535	19	1		1	MAP1S	19	17844195	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	327927	17844195	41284788	1586	42934											
FCHO1	23149	broad.mit.edu	37	chr19	17886791	17886791	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaccttgactgcagcccaCgcacggccgagccctcccgt	11	18	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:17886791C>T	uc010ebb.2	+	15	1193	c.1004_splice	c.e15-1	p.S335_splice	FCHO1_uc002nhg.3_Splice_Site_p.S335_splice|FCHO1_uc002nhh.2_Splice_Site_p.S335_splice|FCHO1_uc010xpw.1_Splice_Site_p.S285_splice|FCHO1_uc002nhi.2_5'Flank|FCHO1_uc002nhj.2_5'Flank	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN	FCH domain only 1 isoform b											breast(1)	1						CTGCAGCCCACGCACGGCCGA	0.627											OREG0025349	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	17886791	C	T	17886791	5	4	55	1	0	0	0	0	0	0	1	0	5787	550	19	1	1053	1	FCHO1	19	17886791	Splice_Site	SNP	C	TCGA-BR-7851-01A-11D-2201-08	42596	17886791	41242192	1587	42935											
FCHO1	23149	broad.mit.edu	37	chr19	17887480	17887481	+	Frame_Shift_Ins	INS	-	-	C													ccccagagacctcggtctgcINSccccagaaccagcaggtggg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:17887479_17887480G>GC	uc002nhg.3	+	17	1522_1523	c.1243_1244G>GC	c.(1243-1245)gccfs	p.A415fs	FCHO1_uc010ebb.2_Frame_Shift_Ins_p.A415fs|FCHO1_uc002nhh.2_Frame_Shift_Ins_p.A415fs|FCHO1_uc010xpw.1_Frame_Shift_Ins_p.A365fs	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	415										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						ACCTCGGTCTGCCCCCAGAACC	0.629													C	17887481	-	C	17887480	7	5	55	1	0	1	1	0	0	0	0	0	5787	739	26	0	1302	0	FCHO1	19	17887480	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	689	17887480	41241503	1588	42936											
JAK3	3718	broad.mit.edu	37	chr19	17937670	17937670	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcccagggcgctgaatgatGgccggtcctgtgggctaggg	19	10	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:17937670G>T	uc002nhn.3	-	24	3357	c.3257C>A	c.(3256-3258)CCA>CAA	p.P1086Q	JAK3_uc010ebh.2_Intron	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	1086	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						GCTGAATGATGGCCGGTCCTG	0.637		2	Mis		acute megakaryocytic leukemia|								T	17937670	G	T	17937670	3	4	55	1	0	0	0	0	1	0	0	0	7939	1348	47	5	121	5	JAK3	19	17937670	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	50190	17937670	41191313	1589	42937											
KIAA1683	80726	broad.mit.edu	37	chr19	18377082	18377082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcggttctttgccgtgAtggtcgcagggcatgtctgc	16	9	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:18377082A>G	uc002nin.2	-	3	1484	c.1268T>C	c.(1267-1269)ATC>ACC	p.I423T	KIAA1683_uc010ebn.2_Missense_Mutation_p.I423T|KIAA1683_uc010xqe.1_Missense_Mutation_p.I377T	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	423	Thr-rich.					mitochondrion				ovary(2)	2						CTTTGCCGTGATGGTCGCAGG	0.612													G	18377082	A	G	18377082	3	3	55	1	0	0	0	0	1	0	0	0	8251	333	12	3	2843	3	KIAA1683	19	18377082	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	439412	18377082	40751901	1590	42938											
COMP	1311	broad.mit.edu	37	chr19	18898336	18898336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtcgcacgcatcgccccGgccgtcctggtctgtgtcct	12	17	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:18898336G>A	uc002nke.2	-	10	1135	c.1099C>T	c.(1099-1101)CGG>TGG	p.R367W	COMP_uc002nkd.2_Missense_Mutation_p.R334W|COMP_uc010xqj.1_Missense_Mutation_p.R314W	NM_000095	NP_000086	P49747	COMP_HUMAN	cartilage oligomeric matrix protein precursor	367	Cell attachment site (Potential).|TSP type-3 4.		Missing (in EDM1).		anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding				0						GCATCGCCCCGGCCGTCCTGG	0.682													A	18898336	G	A	18898336	3	1	55	1	0	0	0	0	1	0	0	0	3724	1115	39	1	1214	1	COMP	19	18898336	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	521254	18898336	40230647	1591	42939											
ARMC6	93436	broad.mit.edu	37	chr19	19165115	19165115	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgaccaccagatgagggaCcagagcggcgttcaggtatg	14	9	1	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:19165115C>T	uc002nld.2	+	6	1356	c.1008C>T	c.(1006-1008)GAC>GAT	p.D336D	ARMC6_uc002nlc.2_Silent_p.D311D|ARMC6_uc010xql.1_Silent_p.D243D|ARMC6_uc002nle.2_Silent_p.D311D|ARMC6_uc010xqm.1_Silent_p.D336D	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	336	ARM 3.						protein binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			AGATGAGGGACCAGAGCGGCG	0.607											OREG0025376	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	19165115	C	T	19165115	2	4	55	1	0	0	0	0	0	0	0	1	955	506	18	4		4	ARMC6	19	19165115	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	266779	19165115	39963868	1592	42940											
NCAN	1463	broad.mit.edu	37	chr19	19338599	19338599	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaagctgagcactccagcTccagcccatggccttctgta	8	15	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:19338599T>C	uc002nlz.2	+	8	2269	c.2170T>C	c.(2170-2172)TCC>CCC	p.S724P	NCAN_uc010ecc.1_Missense_Mutation_p.S288P	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	724					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			GCACTCCAGCTCCAGCCCATG	0.592													C	19338599	T	C	19338599	3	2	55	1	0	0	0	0	1	0	0	0	10204	1551	54	3	2196	3	NCAN	19	19338599	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	173484	19338599	39790384	1593	42941											
HAPLN4	404037	broad.mit.edu	37	chr19	19369374	19369374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaggcgtcgtagcgttcctCggcgttatggcgatacccgt	14	11	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:19369374C>T	uc002nmb.2	-	4	830	c.775G>A	c.(775-777)GAG>AAG	p.E259K	HAPLN4_uc002nmc.2_Missense_Mutation_p.E259K	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	259	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)			TAGCGTTCCTCGGCGTTATGG	0.706													T	19369374	C	T	19369374	3	4	55	1	0	0	0	0	1	0	0	0	6957	893	31	1	441	1	HAPLN4	19	19369374	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	30775	19369374	39759609	1594	42942											
TSSK6	83983	broad.mit.edu	37	chr19	19626062	19626062	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaggatggacagctctcGcggcaggaacttgttgacga	14	11	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:19626062G>A	uc002nmr.2	-	1	408	c.175C>T	c.(175-177)CGA>TGA	p.R59*	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	59	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1						GACAGCTCTCGCGGCAGGAAC	0.612													A	19626062	G	A	19626062	4	1	55	1	0	0	0	0	0	1	0	0	16669	1095	38	1	650	1	TSSK6	19	19626062	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	256688	19626062	39502921	1595	42943											
PBX4	80714	broad.mit.edu	37	chr19	19681519	19681519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttgctgtgccggccctgGccaccgctcctcctcttcct	10	18	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:19681519G>A	uc002nmy.2	-	3	318	c.317C>T	c.(316-318)GCC>GTC	p.A106V	PBX4_uc010xqz.1_RNA|PBX4_uc010xra.1_5'UTR	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	106							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						GCCGGCCCTGGCCACCGCTCC	0.597													A	19681519	G	A	19681519	3	1	55	1	0	0	0	0	1	0	0	0	11495	1203	42	2	831	2	PBX4	19	19681519	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	55457	19681519	39447464	1596	42944											
ZNF430	80264	broad.mit.edu	37	chr19	21239589	21239589	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggatgagtgtaatctgcacAaagaatgttatgatgaacta	10	4	1	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:21239589A>G	uc002npj.2	+	5	585	c.475A>G	c.(475-477)AAA>GAA	p.K159E	ZNF430_uc002npk.2_Missense_Mutation_p.K158E	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2						TAATCTGCACAAAGAATGTTA	0.313													G	21239589	A	G	21239589	3	3	55	1	0	0	0	0	1	0	0	0	17901	131	5	3	493	3	ZNF430	19	21239589	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1558070	21239589	37889394	1597	42945											
ZNF675	171392	broad.mit.edu	37	chr19	23836085	23836085	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttttttatgtttagtaagGtttgcagattggttaaaagc	9	2	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:23836085G>A	uc002nri.2	-	4	1832	c.1650C>T	c.(1648-1650)AAC>AAT	p.N550N		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	zinc finger protein 675	550	C2H2-type 15.				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GTTTAGTAAGGTTTGCAGATT	0.318													A	23836085	G	A	23836085	2	1	55	1	0	0	0	0	0	0	0	1	18079	1252	44	4		4	ZNF675	19	23836085	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2596496	23836085	35292898	1598	42946											
ZNF536	9745	broad.mit.edu	37	chr19	31039638	31039638	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagataacaccatcggggtcAcagtcaactgcaaagaccaa	8	11	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:31039638A>G	uc002nsu.1	+	4	3250	c.3112A>G	c.(3112-3114)ACA>GCA	p.T1038A	ZNF536_uc010edd.1_Missense_Mutation_p.T1038A	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1038					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CATCGGGGTCACAGTCAACTG	0.537													G	31039638	A	G	31039638	3	3	55	1	0	0	0	0	1	0	0	0	17971	159	6	3	3122	3	ZNF536	19	31039638	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	7203553	31039638	28089345	1599	42947											
SLC7A10	56301	broad.mit.edu	37	chr19	33716477	33716477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgatgatgatggtgcaggCgctcagcagcccgatctcct	12	13	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:33716477C>T	uc002num.2	-	1	280	c.133G>A	c.(133-135)GCC>ACC	p.A45T	SLC7A10_uc010xrq.1_Missense_Mutation_p.R86H	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	solute carrier family 7, member 10	45	Helical; (Potential).				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(110;0.137)					ATGGTGCAGGCGCTCAGCAGC	0.751													T	33716477	C	T	33716477	3	4	55	1	0	0	0	0	1	0	0	0	14693	768	27	1	1482	1	SLC7A10	19	33716477	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2676839	33716477	25412506	1600	42948											
SBSN	374897	broad.mit.edu	37	chr19	36019046	36019047	+	Frame_Shift_Del	DEL	CT	CT	-													ccatccagggccttgcccacCtctctctctgcattgctcag							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:36019045_36019046CCT>C	uc002oad.2	-	0	208_209	c.138_139AGG>G	c.(136-141)gaggtgfs	p.E46fs	SBSN_uc002oae.2_Frame_Shift_Del_p.E46fs|SBSN_uc021usp.1_Frame_Shift_Del_p.E46fs	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	46						extracellular region		p.E46fs*27(2)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCTTGCCCACCTCTCTCTCTG	0.579													-	36019047	CT	-	36019046	7	5	55	1	0	1	0	1	0	0	0	0	13864	680	24	0	1650	0	SBSN	19	36019046	Frame_Shift_Del	DEL	CT	TCGA-BR-7851-01A-11D-2201-08	2302569	36019046	23109937	1601	42949											
TMEM149	79713	broad.mit.edu	37	chr19	36230389	36230389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaggcagcccatatcttGcggccaggtgtcgagtagtg	14	11	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:36230389G>A	uc002obc.2	-	5	961	c.860C>T	c.(859-861)GCA>GTA	p.A287V	TMEM149_uc002obb.2_Missense_Mutation_p.A99V|TMEM149_uc002obd.3_Missense_Mutation_p.A287V|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Missense_Mutation_p.A367V	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	transmembrane protein 149 precursor	287	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding|receptor activity				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCATATCTTGCGGCCAGGTG	0.627													A	36230389	G	A	36230389	3	1	55	1	0	0	0	0	1	0	0	0	16059	1319	46	2	211	2	TMEM149	19	36230389	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	211343	36230389	22898594	1602	42950											
CLIP3	25999	broad.mit.edu	37	chr19	36515513	36515513	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggatctgggaccacctccgCcggcacctgtccttttcgat	10	15	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:36515513C>A	uc010eeq.1	-	6	985	c.703G>T	c.(703-705)GCG>TCG	p.A235S	uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.A235S	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	235					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACCACCTCCGCCGGCACCTGT	0.622													A	36515513	C	A	36515513	3	1	55	1	0	0	0	0	1	0	0	0	3534	739	26	5	972	5	CLIP3	19	36515513	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	285124	36515513	22613470	1603	42951											
CLIP3	25999	broad.mit.edu	37	chr19	36518142	36518142	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaacaggatctcctggcaCgccgggtcattgggatcgaa	12	11	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:36518142C>T	uc010eeq.1	-	2	480	c.198G>A	c.(196-198)GCG>GCA	p.A66A	uc002ocy.2_Intron|CLIP3_uc002ocz.1_Silent_p.A66A	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	66					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCTCCTGGCACGCCGGGTCAT	0.602													T	36518142	C	T	36518142	2	4	55	1	0	0	0	0	0	0	0	1	3534	523	19	1		1	CLIP3	19	36518142	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2629	36518142	22610841	1604	42952											
WDR62	284403	broad.mit.edu	37	chr19	36594454	36594454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacagtgagggccctatcGtggccacactggcccagccc	13	15	0	2	rs143493857	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:36594454G>A	uc002odc.2	+	30	3800	c.3709G>A	c.(3709-3711)GTG>ATG	p.V1237M	WDR62_uc002odd.2_Missense_Mutation_p.V1242M	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1237					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGGCCCTATCGTGGCCACACT	0.652													A	36594454	G	A	36594454	3	1	55	1	0	0	0	0	1	0	0	0	17310	1145	40	1	3842	1	WDR62	19	36594454	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	76312	36594454	22534529	1605	42953											
ZNF565	147929	broad.mit.edu	37	chr19	36673976	36673976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcccctgtgtggattctccGatgcacagtgagttgggagc	15	10	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:36673976G>A	uc002odn.2	-	5	1000	c.892C>T	c.(892-894)CGG>TGG	p.R298W	ZNF565_uc010ees.2_Missense_Mutation_p.R233W|ZNF565_uc002odo.2_Missense_Mutation_p.R298W	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	zinc finger protein 565	298	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TGGATTCTCCGATGCACAGTG	0.507													A	36673976	G	A	36673976	3	1	55	1	0	0	0	0	1	0	0	0	17993	1057	37	1	611	1	ZNF565	19	36673976	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	79522	36673976	22455007	1606	42954											
ZNF146	7705	broad.mit.edu	37	chr19	36727929	36727929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaaaagccttctctcagcGaacatcacttattgtacatg	7	10	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:36727929G>A	uc002odq.3	+	4	2110	c.587G>A	c.(586-588)CGA>CAA	p.R196Q	ZNF146_uc010eet.2_Missense_Mutation_p.R196Q|ZNF146_uc010eeu.2_Missense_Mutation_p.R196Q	NM_007145	NP_009076	Q15072	OZF_HUMAN	zinc finger protein 146	196	C2H2-type 7.				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding				0	Esophageal squamous(110;0.162)					TTCTCTCAGCGAACATCACTT	0.418													A	36727929	G	A	36727929	3	1	55	1	0	0	0	0	1	0	0	0	17730	1058	37	1	589	1	ZNF146	19	36727929	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	53953	36727929	22401054	1607	42955											
SIPA1L3	23094	broad.mit.edu	37	chr19	38655514	38655514	+	Frame_Shift_Del	DEL	G	G	-													agcacccccacgggactggcGgggggcagccgagacccacc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:38655513_38655513CG>C	uc002ohk.3	+	14	4684	c.4175_4175CG>C	c.(4174-4176)gcgfs	p.A1392fs		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1392					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACGGGACTGGCGGGGGGCAGC	0.652													-	38655514	G	-	38655514	7	5	55	1	0	1	0	1	0	0	0	0	14331	1103	39	0	4226	0	SIPA1L3	19	38655514	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	1927585	38655514	20473469	1608	42956											
GGN	199720	broad.mit.edu	37	chr19	38876327	38876327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggaacccttgttcctgcgCgtgcgggtcttgatgggcgc	16	12	1	1	rs17853364		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:38876327C>T	uc002oij.1	-	3	1710	c.1575G>A	c.(1573-1575)ACG>ACA	p.T525T	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.T442T	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	525	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGTTCCTGCGCGTGCGGGTCT	0.363													T	38876327	C	T	38876327	2	4	55	1	0	0	0	0	0	0	0	1	6358	755	27	1		1	GGN	19	38876327	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	220813	38876327	20252656	1609	42957											
RYR1	6261	broad.mit.edu	37	chr19	38934390	38934390	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcaccacctcccgctccatGactgacaagctggccttcga	7	18	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:38934390G>A	uc002oit.2	+	5	508	c.378G>A	c.(376-378)ATG>ATA	p.M126I	RYR1_uc002oiu.2_Missense_Mutation_p.M126I	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	126	Cytoplasmic.|MIR 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCGCTCCATGACTGACAAGC	0.647													A	38934390	G	A	38934390	3	1	55	1	0	0	0	0	1	0	0	0	13768	1290	45	4	396	4	RYR1	19	38934390	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	58063	38934390	20194593	1610	42958											
RYR1	6261	broad.mit.edu	37	chr19	39013867	39013867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccaccagaacttcaagcGcgaggagcagaactttgtgg	11	13	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:39013867G>A	uc002oit.2	+	69	10488	c.10358G>A	c.(10357-10359)CGC>CAC	p.R3453H	RYR1_uc002oiu.2_Missense_Mutation_p.R3453H|RYR1_uc002oiv.1_Missense_Mutation_p.R373H|RYR1_uc010xuf.1_Missense_Mutation_p.R373H	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3453					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AACTTCAAGCGCGAGGAGCAG	0.577													A	39013867	G	A	39013867	3	1	55	1	0	0	0	0	1	0	0	0	13768	1087	38	1	10632	1	RYR1	19	39013867	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	79477	39013867	20115116	1611	42959											
HNRNPL	3191	broad.mit.edu	37	chr19	39336661	39336661	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggctgcgtagttcactgcGttgcaagcccccaacacatc	9	15	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:39336661G>A	uc010xul.1	-	3	467	c.456C>T	c.(454-456)AAC>AAT	p.N152N	HNRNPL_uc010xum.1_Silent_p.N19N|HNRNPL_uc010xun.1_5'Flank	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	152	RRM 1.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			AGTTCACTGCGTTGCAAGCCC	0.507													A	39336661	G	A	39336661	2	1	55	1	0	0	0	0	0	0	0	1	7270	1136	40	1		1	HNRNPL	19	39336661	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	322794	39336661	19792322	1612	42960											
NFKBIB	4793	broad.mit.edu	37	chr19	39399408	39399408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggttcacagcagccgcaGccaaacccggctgcctccca	10	17	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:39399408G>A	uc002ojw.2	+	6	1065	c.1007G>A	c.(1006-1008)AGC>AAC	p.S336N	NFKBIB_uc002ojx.2_3'UTR|NFKBIB_uc002ojy.2_3'UTR	NM_002503	NP_002494	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene	336					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			lung(1)|kidney(1)	2	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AGCAGCCGCAGCCAAACCCGG	0.552													A	39399408	G	A	39399408	3	1	55	1	0	0	0	0	1	0	0	0	10378	971	34	2	1077	2	NFKBIB	19	39399408	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	62747	39399408	19729575	1613	42961											
SARS2	54938	broad.mit.edu	37	chr19	39406730	39406730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaacatgatgtggaggcGgcggctctggaagtctgtgc	17	8	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:39406730G>A	uc002oka.2	-	14	1454	c.1294C>T	c.(1294-1296)CGC>TGC	p.R432C	SARS2_uc002ojz.2_Missense_Mutation_p.R242C|SARS2_uc010xup.1_Missense_Mutation_p.R434C|SARS2_uc002okb.2_Missense_Mutation_p.R432C|SARS2_uc010xuq.1_Missense_Mutation_p.R432C	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2 isoform b precursor	432					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ATGTGGAGGCGGCGGCTCTGG	0.687													A	39406730	G	A	39406730	3	1	55	1	0	0	0	0	1	0	0	0	13845	1116	39	1	274	1	SARS2	19	39406730	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	7322	39406730	19722253	1614	42962											
SARS2	54938	broad.mit.edu	37	chr19	39412274	39412274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctccttccggatctcccGgccacgtgcccgcagaccct	9	19	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:39412274G>A	uc002oka.2	-	4	587	c.427C>T	c.(427-429)CGG>TGG	p.R143W	SARS2_uc002ojz.2_Intron|SARS2_uc010xup.1_Intron|SARS2_uc002okb.2_Missense_Mutation_p.R143W|SARS2_uc010xuq.1_Missense_Mutation_p.R143W|SARS2_uc010xur.1_RNA	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2 isoform b precursor	143					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CGGATCTCCCGGCCACGTGCC	0.652													A	39412274	G	A	39412274	3	1	55	1	0	0	0	0	1	0	0	0	13845	1115	39	1	1181	1	SARS2	19	39412274	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5544	39412274	19716709	1615	42963											
LRFN1	57622	broad.mit.edu	37	chr19	39804758	39804758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggcgatgtcagaggagcCgggctcggtgagaggcggcg	21	9	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:39804758C>T	uc002okw.2	-	1	1219	c.1219G>A	c.(1219-1221)GGC>AGC	p.G407S		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	407	Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		p.Q407R(1)		ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TCAGAGGAGCCGGGCTCGGTG	0.697													T	39804758	C	T	39804758	3	4	55	1	0	0	0	0	1	0	0	0	8937	652	23	1	1104	1	LRFN1	19	39804758	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	392484	39804758	19324225	1616	42964											
FBL	2091	broad.mit.edu	37	chr19	40331273	40331273	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttaccacctcttcctcctccTccaccgccgccgccgcctcc	4	25	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:40331273T>A	uc002omn.2	-	2	279	c.165A>T	c.(163-165)GGA>GGT	p.G55G	FBL_uc002omm.1_5'Flank|FBL_uc002omo.2_Silent_p.G55G|FBL_uc010egr.2_Silent_p.G55G	NM_001436	NP_001427	P22087	FBRL_HUMAN	fibrillarin	55	DMA/Gly-rich.				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			ovary(1)	1	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		ttcctcctcctccaccgccgc	0.468													A	40331273	T	A	40331273	2	1	55	1	0	0	0	0	0	0	0	1	5696	1538	54	5		5	FBL	19	40331273	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	526515	40331273	18797710	1617	42965											
CNFN	84518	broad.mit.edu	37	chr19	42893100	42893100	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggcatgtcgttgcagcaGtccgtgagacctgtgtgcca	13	11	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:42893100G>A	uc002otp.3	-	2	145	c.90C>T	c.(88-90)GAC>GAT	p.D30D	CNFN_uc002otq.3_Silent_p.D43D	NM_032488	NP_115877	Q9BYD5	CNFN_HUMAN	cornifelin	30					keratinization	cornified envelope|cytoplasm					0		Prostate(69;0.00899)				CGTTGCAGCAGTCCGTGAGAC	0.617													A	42893100	G	A	42893100	2	1	55	1	0	0	0	0	0	0	0	1	3595	1020	36	4		4	CNFN	19	42893100	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2561827	42893100	16235883	1618	42966											
CADM4	199731	broad.mit.edu	37	chr19	44130372	44130372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gataccaccgtcgtccttacGgtccacacgaaaccgtactg	8	15	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:44130372G>A	uc002oxc.1	-	5	617	c.568C>T	c.(568-570)CGT>TGT	p.R190C		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4 precursor	190	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion	integral to membrane					0		Prostate(69;0.0199)				TCGTCCTTACGGTCCACACGA	0.592													A	44130372	G	A	44130372	3	1	55	1	0	0	0	0	1	0	0	0	2569	1116	39	1	618	1	CADM4	19	44130372	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1237272	44130372	14998611	1619	42967											
ZNF155	7711	broad.mit.edu	37	chr19	44500737	44500737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgggaaaggtttcagtcGtagatcagcacttaatgttc	11	6	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:44500737G>A	uc002oxy.1	+	5	933	c.728G>A	c.(727-729)CGT>CAT	p.R243H	ZNF155_uc002oxz.1_Missense_Mutation_p.R243H|ZNF155_uc010xwt.1_Missense_Mutation_p.R254H	NM_003445	NP_003436	Q12901	ZN155_HUMAN	zinc finger protein 155	243	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Prostate(69;0.0352)				GGTTTCAGTCGTAGATCAGCA	0.428													A	44500737	G	A	44500737	3	1	55	1	0	0	0	0	1	0	0	0	17733	1145	40	1	742	1	ZNF155	19	44500737	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	370365	44500737	14628246	1620	42968											
ZNF225	7768	broad.mit.edu	37	chr19	44636092	44636092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctacaaaaggaggttggAtcttgactttcatcagaggg	14	6	3	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:44636092A>G	uc002oyj.1	+	5	1568	c.1325A>G	c.(1324-1326)GAT>GGT	p.D442G	ZNF225_uc010eje.1_Missense_Mutation_p.D359G|ZNF225_uc010ejf.1_Missense_Mutation_p.D442G	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	442	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				AGGAGGTTGGATCTTGACTTT	0.448													G	44636092	A	G	44636092	3	3	55	1	0	0	0	0	1	0	0	0	17776	333	12	3	1339	3	ZNF225	19	44636092	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	135355	44636092	14492891	1621	42969											
APOC4	346	broad.mit.edu	37	chr19	45448482	45448482	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctcaccaaggcctggttcCtcgaatccaaagacagcctc	8	16	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:45448482C>A	uc002pag.1	+	3	344	c.304C>A	c.(304-306)CTC>ATC	p.L102I	APOC2_uc002pah.2_5'Flank	NM_001646	NP_001637	P55056	APOC4_HUMAN	apolipoprotein C-IV precursor	102					lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)	1	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		GGCCTGGTTCCTCGAATCCAA	0.542													A	45448482	C	A	45448482	3	1	55	1	0	0	0	0	1	0	0	0	800	681	24	5	314	5	APOC4	19	45448482	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	812390	45448482	13680501	1622	42970											
MARK4	57787	broad.mit.edu	37	chr19	45766584	45766584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggccacgcccagctgttccGagaagtccgcatcatgaagg	12	13	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:45766584G>A	uc002pbb.1	+	4	319	c.314G>A	c.(313-315)CGA>CAA	p.R105Q	MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Missense_Mutation_p.R105Q|MARK4_uc002pbc.1_5'Flank			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;	105	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CAGCTGTTCCGAGAAGTCCGC	0.587													A	45766584	G	A	45766584	3	1	55	1	0	0	0	0	1	0	0	0	9315	1058	37	1	328	1	MARK4	19	45766584	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	318102	45766584	13362399	1623	42971											
RTN2	6253	broad.mit.edu	37	chr19	45996513	45996513	+	Frame_Shift_Del	DEL	G	G	-													gaacccggaggacaggagtaGggggggtggggcccctttgg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:45996512_45996512AG>A	uc002pcb.3	-	4	1169	c.939_939CT>T	c.(937-939)cctfs	p.P313fs	RTN2_uc002pcc.3_Intron|RTN2_uc002pcd.3_Intron	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	313						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGACAGGAGTAGGGGGGGTGG	0.572													-	45996513	G	-	45996513	7	5	55	1	0	1	0	1	0	0	0	0	13726	1000	35	0	727	0	RTN2	19	45996513	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	229929	45996513	13132470	1624	42972											
DMPK	1760	broad.mit.edu	37	chr19	46280835	46280836	+	Frame_Shift_Del	DEL	AG	AG	-													ccccttcgtccaccagcggcAgagagaggtgctcctgctca							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:46280834_46280835CAG>C	uc002pdi.1	-	8	1160_1161	c.974_975CTG>G	c.(973-975)ctgfs	p.L325fs	DMPK_uc010xxs.1_Frame_Shift_Del_p.L210fs|DMPK_uc002pdd.1_Frame_Shift_Del_p.L309fs|DMPK_uc002pde.1_Frame_Shift_Del_p.L309fs|DMPK_uc002pdg.1_Frame_Shift_Del_p.L299fs|DMPK_uc002pdf.1_Frame_Shift_Del_p.L299fs|DMPK_uc002pdh.1_Frame_Shift_Del_p.L299fs|DMPK_uc010xxt.1_Frame_Shift_Del_p.L299fs	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	309	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.L325L(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CCACCAGCGGCAGAGAGAGGTG	0.668													-	46280836	AG	-	46280835	7	5	55	1	0	1	0	1	0	0	0	0	4584	188	7	0	1032	0	DMPK	19	46280835	Frame_Shift_Del	DEL	AG	TCGA-BR-7851-01A-11D-2201-08	284322	46280835	12848148	1625	42973											
RSPH6A	81492	broad.mit.edu	37	chr19	46308106	46308106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggccaccaggtagctgcGtttgattcccaggatcttgc	11	13	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:46308106G>A	uc002pdm.2	-	3	1200	c.1057C>T	c.(1057-1059)CGC>TGC	p.R353C	RSPH6A_uc002pdl.2_Missense_Mutation_p.R89C	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	353						intracellular				ovary(1)|central_nervous_system(1)	2						AGGTAGCTGCGTTTGATTCCC	0.453													A	46308106	G	A	46308106	3	1	55	1	0	0	0	0	1	0	0	0	13707	1145	40	1	1112	1	RSPH6A	19	46308106	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	27271	46308106	12820877	1626	42974											
HIF3A	64344	broad.mit.edu	37	chr19	46815873	46815873	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagggggacggggccccCagtcggagagtatcgtctgt	17	10	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:46815873C>A	uc002peh.2	+	8	1017	c.988C>A	c.(988-990)CAG>AAG	p.Q330K	HIF3A_uc002pef.1_3'UTR|HIF3A_uc002peg.3_Missense_Mutation_p.Q330K|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.Q274K|HIF3A_uc002pej.1_Missense_Mutation_p.Q261K|HIF3A_uc002pek.2_Missense_Mutation_p.Q274K|HIF3A_uc010xxy.1_Missense_Mutation_p.Q261K|HIF3A_uc002pel.2_Missense_Mutation_p.Q328K|HIF3A_uc010xxz.1_Missense_Mutation_p.Q279K	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		ACGGGGCCCCCAGTCGGAGAG	0.607													A	46815873	C	A	46815873	3	1	55	1	0	0	0	0	1	0	0	0	7105	595	21	5	1042	5	HIF3A	19	46815873	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	507767	46815873	12313110	1627	42975											
HIF3A	64344	broad.mit.edu	37	chr19	46832648	46832648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagccctccctgctaccccGctgggggagtgacccccggc	13	18	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:46832648G>A	uc002peh.2	+	12	1654	c.1625G>A	c.(1624-1626)CGC>CAC	p.R542H	HIF3A_uc002peg.3_Missense_Mutation_p.R542H|HIF3A_uc002pei.3_Missense_Mutation_p.R486H|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Missense_Mutation_p.R486H|HIF3A_uc010xxy.1_Missense_Mutation_p.R473H|HIF3A_uc002pel.2_Missense_Mutation_p.R540H|HIF3A_uc010xxz.1_Missense_Mutation_p.R491H	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	542	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CTGCTACCCCGCTGGGGGAGT	0.692													A	46832648	G	A	46832648	3	1	55	1	0	0	0	0	1	0	0	0	7105	1087	38	1	1695	1	HIF3A	19	46832648	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	16775	46832648	12296335	1628	42976											
STRN4	29888	broad.mit.edu	37	chr19	47236446	47236446	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcagggaacggacgcgcttgGaccgcatgtcgaggatggtg	18	9	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:47236446G>T	uc002pfl.2	-	5	620	c.587C>A	c.(586-588)TCC>TAC	p.S196Y	STRN4_uc002pfm.2_Missense_Mutation_p.S196Y|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	196						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GACGCGCTTGGACCGCATGTC	0.652													T	47236446	G	T	47236446	3	4	55	1	0	0	0	0	1	0	0	0	15330	1174	41	5	1747	5	STRN4	19	47236446	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	403798	47236446	11892537	1629	42977											
CARD8	22900	broad.mit.edu	37	chr19	48722193	48722193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtaatctcaagttgaatgGgttccttcatctgcccagca	8	11	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:48722193G>A	uc002pie.3	-	8	1233	c.920C>T	c.(919-921)CCC>CTC	p.P307L	CARD8_uc002pii.3_Intron|CARD8_uc002pid.1_RNA|CARD8_uc010xzi.1_Missense_Mutation_p.P308L|CARD8_uc010els.2_Intron|CARD8_uc010xzj.1_Missense_Mutation_p.P413L|CARD8_uc010xzk.1_Missense_Mutation_p.P332L|CARD8_uc002pif.3_Intron|CARD8_uc002pig.3_Missense_Mutation_p.P138L|CARD8_uc002pih.3_Missense_Mutation_p.P363L|CARD8_uc010xzl.1_Missense_Mutation_p.P363L|CARD8_uc010xzm.1_Intron	NM_014959	NP_055774	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	307					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity				0		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		AAGTTGAATGGGTTCCTTCAT	0.458													A	48722193	G	A	48722193	3	1	55	1	0	0	0	0	1	0	0	0	2651	1232	43	4	387	4	CARD8	19	48722193	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1485747	48722193	10406790	1630	42978											
LMTK3	114783	broad.mit.edu	37	chr19	49000732	49000732	+	Frame_Shift_Del	DEL	G	G	-													gggcccttcctctcgggcttGggggggtccccgtctccgct							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:49000731_49000731TG>T	uc002pjk.3	-	11	3682	c.3682_3682CA>A	c.(3682-3684)aagfs	p.K1228fs		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTCTCGGGCTTGGGGGGGTCC	0.706													-	49000732	G	-	49000732	7	5	55	1	0	1	0	1	0	0	0	0	8860	1335	47	0	808	0	LMTK3	19	49000732	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	278539	49000732	10128251	1631	42979											
SPACA4	171169	broad.mit.edu	37	chr19	49110288	49110288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctctgcccccaggcacgaCgggcgtcaaggactgcgtct	14	15	3	0	rs147138042		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:49110288C>T	uc002pjo.2	+	1	289	c.53C>T	c.(52-54)ACG>ATG	p.T18M	FAM83E_uc002pjn.2_Intron	NM_133498	NP_598005	Q8TDM5	SACA4_HUMAN	sperm acrosomal membrane protein 14 precursor	18					cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane				central_nervous_system(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CCAGGCACGACGGGCGTCAAG	0.652													T	49110288	C	T	49110288	3	4	55	1	0	0	0	0	1	0	0	0	14974	536	19	1	55	1	SPACA4	19	49110288	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	109556	49110288	10018695	1632	42980											
BAX	581	broad.mit.edu	37	chr19	49458971	49458972	+	Frame_Shift_Ins	INS	-	-	G													aggatcgagcagggcgaatgINSgggggggaggcacccgagct					rs141306106	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:49458970_49458971T>TG	uc002plk.3	+	2	182_183	c.113_114T>TG	c.(112-114)atgfs	p.M38fs	BAX_uc002plf.1_Frame_Shift_Ins_p.M38fs|BAX_uc002plg.1_Frame_Shift_Ins_p.M1fs|BAX_uc002plh.1_Intron|BAX_uc010xzx.2_Non-coding_Transcript|BAX_uc002plj.3_Frame_Shift_Ins_p.M38fs|BAX_uc002pll.3_Intron|BAX_uc002plm.3_Intron	NM_138761	NP_620116	Q07812	BAX_HUMAN	Homo sapiens BCL2-associated X protein (BAX), transcript variant alpha, mRNA.	38					B cell apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|cleavage of lamin|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	p.E41fs*19(1)|p.R37*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		GCAGGGCGAATGGGGGGGGAGG	0.594													G	49458972	-	G	49458971	7	5	55	1	0	1	1	0	0	0	0	0	1328	1348	47	0	124	0	BAX	19	49458971	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	348683	49458971	9670012	1633	42981											
TRPM4	54795	broad.mit.edu	37	chr19	49692270	49692270	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcctccgtcgctgcccGctctggggggatgccacttg	12	17	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:49692270G>A	uc002pmw.2	+	14	2013	c.1941G>A	c.(1939-1941)CCG>CCA	p.P647P	TRPM4_uc010emu.2_Silent_p.P647P|TRPM4_uc010yak.1_Silent_p.P111P|TRPM4_uc002pmx.2_Silent_p.P473P|TRPM4_uc010emv.2_Silent_p.P532P|TRPM4_uc010yal.1_Silent_p.P293P|TRPM4_uc002pmy.2_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	647	Cytoplasmic (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GTCGCTGCCCGCTCTGGGGGG	0.617													A	49692270	G	A	49692270	2	1	55	1	0	0	0	0	0	0	0	1	16585	1074	38	1		1	TRPM4	19	49692270	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	233299	49692270	9436713	1634	42982											
PIH1D1	55011	broad.mit.edu	37	chr19	49950717	49950717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggccggttcttcatcatGcgccattctgagggtcagga	12	10	5	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:49950717G>A	uc002pns.2	-	6	773	c.489C>T	c.(487-489)CGC>CGT	p.R163R		NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	NOP17	163					box C/D snoRNP assembly	pre-snoRNP complex					0		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		TCTTCATCATGCGCCATTCTG	0.627													A	49950717	G	A	49950717	2	1	55	1	0	0	0	0	0	0	0	1	11906	1306	46	2		2	PIH1D1	19	49950717	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	258447	49950717	9178266	1635	42983											
ALDH16A1	126133	broad.mit.edu	37	chr19	49969002	49969002	+	Frame_Shift_Del	DEL	C	C	-													caccctactccagcccagcaCccccctatgggctcttcgtt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:49969001_49969001AC>A	uc002pnt.3	+	12	1691	c.1575_1575AC>A	c.(1573-1575)gcafs	p.A525fs	ALDH16A1_uc010yar.2_Frame_Shift_Del_p.A474fs|ALDH16A1_uc010yas.2_Frame_Shift_Del_p.A360fs|ALDH16A1_uc010yat.2_Frame_Shift_Del_p.A362fs	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA.	525							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCAGCCCAGCACCCCCCTATG	0.642													-	49969002	C	-	49969002	7	5	55	1	0	1	0	1	0	0	0	0	488	507	18	0	1626	0	ALDH16A1	19	49969002	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	18285	49969002	9159981	1636	42984											
ALDH16A1	126133	broad.mit.edu	37	chr19	49971689	49971689	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggagccgctgggtgtgCtggctgtggtgtgtccggac	20	9	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:49971689C>T	uc002pnt.2	+	15	2106	c.1990C>T	c.(1990-1992)CTG>TTG	p.L664L	ALDH16A1_uc010yar.1_Silent_p.L613L|ALDH16A1_uc010yas.1_Silent_p.L499L|ALDH16A1_uc010yat.1_Silent_p.L501L	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	664							oxidoreductase activity|protein binding			skin(1)	1		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GCTGGGTGTGCTGGCTGTGGT	0.662													T	49971689	C	T	49971689	2	4	55	1	0	0	0	0	0	0	0	1	488	796	28	2		2	ALDH16A1	19	49971689	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2687	49971689	9157294	1637	42985											
SIGLEC11	114132	broad.mit.edu	37	chr19	50463680	50463680	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcttcttagtcagggcTgggacagagaccgggtggga	17	8	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:50463680T>C	uc010ybh.1	-	3	552	c.461_splice	c.e3-1	p.A154_splice	SIGLEC11_uc010ybi.1_Splice_Site_p.A154_splice	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11 isoform 1						cell adhesion	integral to membrane	sugar binding			ovary(3)|central_nervous_system(2)|pancreas(1)	6		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TAGTCAGGGCTGGGACAGAGA	0.602													C	50463680	T	C	50463680	5	2	55	1	0	0	0	0	0	0	1	0	14307	1594	55	3	1673	3	SIGLEC11	19	50463680	Splice_Site	SNP	T	TCGA-BR-7851-01A-11D-2201-08	491991	50463680	8665303	1638	42986											
SPIB	6689	broad.mit.edu	37	chr19	50926138	50926138	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccaccccctatgaagccttCgacccggcagcagccgcttt	9	18	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:50926138C>T	uc002psd.2	+	4	208	c.183C>T	c.(181-183)TTC>TTT	p.F61F	SPIB_uc002pse.2_Silent_p.F61F|SPIB_uc010ycc.1_Intron	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	61	TAD2.				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			lung(1)|kidney(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		ATGAAGCCTTCGACCCGGCAG	0.662													T	50926138	C	T	50926138	2	4	55	1	0	0	0	0	0	0	0	1	15049	883	31	1		1	SPIB	19	50926138	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	462458	50926138	8202845	1639	42987											
KLK8	11202	broad.mit.edu	37	chr19	51503785	51503785	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctgccaaggctgcgaaTggggttggcactcatgaccc	13	14	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:51503785T>C	uc002pur.1	-	3	304	c.125A>G	c.(124-126)CAT>CGT	p.H42R	KLK9_uc002puw.1_RNA|KLK8_uc002puq.1_Missense_Mutation_p.H87R|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Missense_Mutation_p.H42R|KLK9_uc002puv.1_Intron	NM_007196	NP_009127	O60259	KLK8_HUMAN	kallikrein 8 isoform 1 preproprotein	42	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		AGGCTGCGAATGGGGTTGGCA	0.622													C	51503785	T	C	51503785	3	2	55	1	0	0	0	0	1	0	0	0	8410	1464	51	3	673	3	KLK8	19	51503785	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	577647	51503785	7625198	1640	42988											
ZNF616	90317	broad.mit.edu	37	chr19	52619867	52619867	+	Frame_Shift_Del	DEL	T	T	-													acattcattacatacatacgTtttttccctaatgtgtggag							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:52619866_52619866GT>G	uc002pym.3	-	3	834	c.551_551AC>C	c.(550-552)acgfs	p.T184fs	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ACATACATACGTTTTTTCCCT	0.368													-	52619867	T	-	52619867	7	5	55	1	0	1	0	1	0	0	0	0	18038	1725	60	0	1799	0	ZNF616	19	52619867	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	1116082	52619867	6509116	1641	42989											
ZNF528	84436	broad.mit.edu	37	chr19	52918821	52918821	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagaatgcatactggagagaAgccttacaaatgtcatgaat	9	6	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:52918821A>T	uc002pzh.2	+	7	1142	c.716A>T	c.(715-717)AAG>ATG	p.K239M	ZNF528_uc002pzi.2_Missense_Mutation_p.K6M	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ACTGGAGAGAAGCCTTACAAA	0.388													T	52918821	A	T	52918821	3	4	55	1	0	0	0	0	1	0	0	0	17966	72	3	5	730	5	ZNF528	19	52918821	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	298954	52918821	6210162	1642	42990											
MYADM	91663	broad.mit.edu	37	chr19	54377015	54377015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtgcttctgcttctccGtgaccctgatcatcctcatc	7	16	4	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:54377015G>A	uc002qcl.2	+	3	380	c.232G>A	c.(232-234)GTG>ATG	p.V78M	MYADM_uc002qcm.2_Missense_Mutation_p.V78M|MYADM_uc002qcn.2_Missense_Mutation_p.V78M|MYADM_uc002qco.2_Missense_Mutation_p.V78M|MYADM_uc002qcp.2_Missense_Mutation_p.V78M	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	78	MARVEL 1.|Helical; (Potential).			Missing (in Ref. 4; BAC04265).		integral to membrane				ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		CTGCTTCTCCGTGACCCTGAT	0.642											OREG0003650	type=REGULATORY REGION|Gene=MYADM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	54377015	G	A	54377015	3	1	55	1	0	0	0	0	1	0	0	0	10006	1145	40	1	234	1	MYADM	19	54377015	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1458194	54377015	4751968	1643	42991											
PRKCG	5582	broad.mit.edu	37	chr19	54394974	54394974	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggaccccaatggtctctcTgatccctatgtgaaactgaa	8	11	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:54394974T>C	uc002qcq.1	+	6	858	c.576T>C	c.(574-576)TCT>TCC	p.S192S	PRKCG_uc010eqz.1_Silent_p.S192S|PRKCG_uc010yef.1_Silent_p.S192S|PRKCG_uc010yeg.1_Silent_p.S192S|PRKCG_uc010yeh.1_Silent_p.S79S	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	192	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ATGGTCTCTCTGATCCCTATG	0.537													C	54394974	T	C	54394974	2	2	55	1	0	0	0	0	0	0	0	1	12512	1567	55	3		3	PRKCG	19	54394974	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	17959	54394974	4734009	1644	42992											
NCR1	9437	broad.mit.edu	37	chr19	55417575	55417575	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactccctgccctgctctgCgtcggtgagttctggcgtgg	13	14	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:55417575C>T	uc002qib.2	+	1	68	c.30C>T	c.(28-30)TGC>TGT	p.C10C	NCR1_uc002qic.2_Silent_p.C10C|NCR1_uc002qie.2_Silent_p.C10C|NCR1_uc002qid.2_Silent_p.C10C|NCR1_uc002qif.2_Silent_p.C10C|NCR1_uc010esj.2_Silent_p.C10C	NM_004829	NP_004820	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	10					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(193;0.0449)		CCCTGCTCTGCGTCGGTGAGT	0.607													T	55417575	C	T	55417575	2	4	55	1	0	0	0	0	0	0	0	1	10237	776	27	1		1	NCR1	19	55417575	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1022601	55417575	3711408	1645	42993											
PPP1R12C	54776	broad.mit.edu	37	chr19	55614811	55614811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcccttggcagcagccaCgtgcagggcagaggcgcctg	16	13	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:55614811C>T	uc002qix.2	-	4	713	c.697G>A	c.(697-699)GTG>ATG	p.V233M	PPP1R12C_uc010yfs.1_Missense_Mutation_p.V159M|PPP1R12C_uc002qiy.2_Missense_Mutation_p.V233M	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	233	ANK 3.					cytoplasm				ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GCAGCAGCCACGTGCAGGGCA	0.567													T	55614811	C	T	55614811	3	4	55	1	0	0	0	0	1	0	0	0	12356	536	19	1	1727	1	PPP1R12C	19	55614811	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	197236	55614811	3514172	1646	42994											
SYT5	6861	broad.mit.edu	37	chr19	55687120	55687120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgagggttcagcgtctgcCgatgcaccttggtctcgtac	13	11	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:55687120C>T	uc002qjm.1	-	4	1557	c.497G>A	c.(496-498)CGG>CAG	p.R166Q	SYT5_uc002qjp.2_Missense_Mutation_p.R163Q|SYT5_uc002qjn.1_Missense_Mutation_p.R166Q|SYT5_uc002qjo.1_Missense_Mutation_p.R166Q	NM_003180	NP_003171	O00445	SYT5_HUMAN	synaptotagmin V	166	Cytoplasmic (Potential).|C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CAGCGTCTGCCGATGCACCTT	0.612													T	55687120	C	T	55687120	3	4	55	1	0	0	0	0	1	0	0	0	15474	652	23	1	683	1	SYT5	19	55687120	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	72309	55687120	3441863	1647	42995											
NLRP8	126205	broad.mit.edu	37	chr19	56465979	56465979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccaaggtgtacacaggcaCgaggagtacttaccatgtct	10	10	1	0	rs112109260	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:56465979C>T	uc002qmh.2	+	3	626	c.555C>T	c.(553-555)CAC>CAT	p.H185H	NLRP8_uc010etg.2_Silent_p.H185H	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	185						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TACACAGGCACGAGGAGTACT	0.502													T	56465979	C	T	56465979	2	4	55	1	0	0	0	0	0	0	0	1	10483	535	19	1		1	NLRP8	19	56465979	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	778859	56465979	2663004	1648	42996											
NLRP5	126206	broad.mit.edu	37	chr19	56565126	56565126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgacggtggggttgctgCgctgtgcgagggactgaagc	21	7	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:56565126C>T	uc002qmj.2	+	13	3251	c.3251C>T	c.(3250-3252)GCG>GTG	p.A1084V	NLRP5_uc002qmi.2_Missense_Mutation_p.A1065V	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	1084	LRR 12.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGGGTTGCTGCGCTGTGCGAG	0.627													T	56565126	C	T	56565126	3	4	55	1	0	0	0	0	1	0	0	0	10480	768	27	1	3301	1	NLRP5	19	56565126	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	99147	56565126	2563857	1649	42997											
ZNF211	10520	broad.mit.edu	37	chr19	58152086	58152086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaggttgttggtgtggaGtggaacatgaggaaacacct	14	4	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:58152086G>A	uc002qpq.2	+	3	412	c.232G>A	c.(232-234)GTG>ATG	p.V78M	ZNF211_uc010yhb.1_Missense_Mutation_p.V82M|ZNF211_uc002qpp.2_Missense_Mutation_p.V91M|ZNF211_uc002qpr.2_Missense_Mutation_p.V142M|ZNF211_uc002qps.2_Missense_Mutation_p.V143M|ZNF211_uc002qpt.2_Missense_Mutation_p.V90M|ZNF211_uc010yhc.1_Missense_Mutation_p.V90M|ZNF211_uc010yhd.1_Missense_Mutation_p.V17M|ZNF211_uc010yhe.1_Missense_Mutation_p.V69M	NM_198855	NP_942152	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 2	78	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTGGTGTGGAGTGGAACATGA	0.423													A	58152086	G	A	58152086	3	1	55	1	0	0	0	0	1	0	0	0	17764	1029	36	4	285	4	ZNF211	19	58152086	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1586960	58152086	976897	1650	42998											
ZNF211	10520	broad.mit.edu	37	chr19	58152796	58152796	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggagaaaggccttatgcGtgccctgaatgtgggaaatc	13	8	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:58152796G>A	uc002qpq.2	+	3	1122	c.942G>A	c.(940-942)GCG>GCA	p.A314A	ZNF211_uc010yhb.1_Silent_p.A318A|ZNF211_uc002qpp.2_Silent_p.A327A|ZNF211_uc002qpr.2_Silent_p.A378A|ZNF211_uc002qps.2_Silent_p.A379A|ZNF211_uc002qpt.2_Silent_p.A326A|ZNF211_uc010yhc.1_Silent_p.A326A|ZNF211_uc010yhd.1_Silent_p.A253A|ZNF211_uc010yhe.1_Silent_p.A305A	NM_198855	NP_942152	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 2	314	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I314L(1)		ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCCTTATGCGTGCCCTGAAT	0.413													A	58152796	G	A	58152796	2	1	55	1	0	0	0	0	0	0	0	1	17764	1132	40	1		1	ZNF211	19	58152796	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	710	58152796	976187	1651	42999											
CSNK2A1	1457	broad.mit.edu	37	chr20	473005	473005	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaccccagtctattagtcGtagctgaaaaagaataaacc	6	10	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:473005G>A	uc002wdw.1	-	9	907	c.514C>T	c.(514-516)CGA>TGA	p.R172*	CSNK2A1_uc002wdx.1_Nonsense_Mutation_p.R172*|CSNK2A1_uc002wdy.1_Nonsense_Mutation_p.R36*	NM_177559	NP_808227	P68400	CSK21_HUMAN	casein kinase II alpha 1 subunit isoform a	172	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TCTATTAGTCGTAGCTGAAAA	0.368													A	473005	G	A	473005	4	1	55	1	0	0	0	0	0	1	0	0	3957	1153	40	1	685	1	CSNK2A1	20	473005	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08		473005	62552515	1652	43000											
SNPH	9751	broad.mit.edu	37	chr20	1286354	1286354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccccagagcccatcaccCgtggacccaccccacagcgg	10	20	1	1	rs6131323		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:1286354C>T	uc002wes.2	+	6	1377	c.1141C>T	c.(1141-1143)CGT>TGT	p.R381C	SNPH_uc002wet.2_Missense_Mutation_p.R425C	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	381					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						GCCCATCACCCGTGGACCCAC	0.667													T	1286354	C	T	1286354	3	4	55	1	0	0	0	0	1	0	0	0	14850	652	23	1	1155	1	SNPH	20	1286354	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	813349	1286354	61739166	1653	43001											
FASTKD5	60493	broad.mit.edu	37	chr20	3128626	3128626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgatccacgtgagtgaaaCggaacattttaacaatattc	8	7	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:3128626C>T	uc002whz.2	-	2	1402	c.1091G>A	c.(1090-1092)CGT>CAT	p.R364H	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	364					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0						GTGAGTGAAACGGAACATTTT	0.433													T	3128626	C	T	3128626	3	4	55	1	0	0	0	0	1	0	0	0	5688	536	19	1	1207	1	FASTKD5	20	3128626	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1842272	3128626	59896894	1654	43002											
HSPA12B	116835	broad.mit.edu	37	chr20	3719329	3719329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcctgcaaggatgttggCtgtcccggagatgggcctgc	17	10	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:3719329C>T	uc002wjd.2	+	2	111	c.8C>T	c.(7-9)GCT>GTT	p.A3V	HSPA12B_uc010zqi.1_Missense_Mutation_p.A3V|HSPA12B_uc002wje.2_5'UTR|HSPA12B_uc010zqj.1_5'UTR	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	3							ATP binding				0						AGGATGTTGGCTGTCCCGGAG	0.532													T	3719329	C	T	3719329	3	4	55	1	0	0	0	0	1	0	0	0	7405	797	28	2	10	2	HSPA12B	20	3719329	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	590703	3719329	59306191	1655	43003											
SLC23A2	9962	broad.mit.edu	37	chr20	4864313	4864313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaatgccccagtgcttccCggctctctcccccgctgcct	9	20	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:4864313C>T	uc002wlg.1	-	9	1174	c.799G>A	c.(799-801)GGG>AGG	p.G267R	SLC23A2_uc010zqr.1_Intron|SLC23A2_uc002wlh.1_Missense_Mutation_p.G267R|SLC23A2_uc002wli.2_Missense_Mutation_p.G266R	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	267	Helical; (Potential).				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2						CAGTGCTTCCCGGCTCTCTCC	0.577													T	4864313	C	T	4864313	3	4	55	1	0	0	0	0	1	0	0	0	14463	652	23	1	1189	1	SLC23A2	20	4864313	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1144984	4864313	58161207	1656	43004											
SLC23A2	9962	broad.mit.edu	37	chr20	4866508	4866508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatctaaagacaggatggctCgagcaggggccaaaaatgca	12	8	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:4866508C>T	uc002wlg.1	-	7	905	c.530G>A	c.(529-531)CGA>CAA	p.R177Q	SLC23A2_uc010zqr.1_Intron|SLC23A2_uc002wlh.1_Missense_Mutation_p.R177Q|SLC23A2_uc002wli.2_Missense_Mutation_p.R176Q	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	177	Helical; (Potential).				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2						CAGGATGGCTCGAGCAGGGGC	0.453													T	4866508	C	T	4866508	3	4	55	1	0	0	0	0	1	0	0	0	14463	884	31	1	1466	1	SLC23A2	20	4866508	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2195	4866508	58159012	1657	43005											
RRBP1	6238	broad.mit.edu	37	chr20	17601380	17601380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctggagctcctcctctgCggcgcccaccttggccctcc	9	20	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:17601380C>T	uc002wpv.1	-	18	2542	c.2188G>A	c.(2188-2190)GCA>ACA	p.A730T	RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_Missense_Mutation_p.A100T|RRBP1_uc002wpu.2_Missense_Mutation_p.A504T|RRBP1_uc002wpw.1_Missense_Mutation_p.A730T|RRBP1_uc010gcl.1_Missense_Mutation_p.A504T|RRBP1_uc010gcm.1_Missense_Mutation_p.A183T	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1163	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						TCCTCCTCTGCGGCGCCCACC	0.647													T	17601380	C	T	17601380	3	4	55	1	0	0	0	0	1	0	0	0	13678	768	27	1	781	1	RRBP1	20	17601380	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	12734872	17601380	45424140	1658	43006											
SLC24A3	57419	broad.mit.edu	37	chr20	19698188	19698188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagatccggctgaatagcaGggggctgatctactccgtag	13	10	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:19698188G>A	uc002wrl.2	+	16	1933	c.1736G>A	c.(1735-1737)AGG>AAG	p.R579K		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	579	Extracellular (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						CTGAATAGCAGGGGGCTGATC	0.522													A	19698188	G	A	19698188	3	1	55	1	0	0	0	0	1	0	0	0	14467	1000	35	4	1798	4	SLC24A3	20	19698188	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	2096808	19698188	43327332	1659	43007											
RALGAPA2	57186	broad.mit.edu	37	chr20	20552174	20552174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatctgagtttggcagaacGtcctggcgtctggtcatcat	11	9	4	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:20552174G>A	uc002wrz.2	-	23	3227	c.3084C>T	c.(3082-3084)GAC>GAT	p.D1028D	RALGAPA2_uc010gcx.2_Silent_p.D732D|RALGAPA2_uc010zsg.1_Silent_p.D476D	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1028					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						TTGGCAGAACGTCCTGGCGTC	0.483													A	20552174	G	A	20552174	2	1	55	1	0	0	0	0	0	0	0	1	13014	1136	40	1		1	RALGAPA2	20	20552174	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	853986	20552174	42473346	1660	43008											
XRN2	22803	broad.mit.edu	37	chr20	21367540	21367540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctctgctcccatggaacCggatgctgcaaacccagaat	8	14	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:21367540C>T	uc002wsf.1	+	29	2778	c.2683C>T	c.(2683-2685)CGG>TGG	p.R895W	XRN2_uc002wsg.1_Missense_Mutation_p.R819W|XRN2_uc010zsk.1_Missense_Mutation_p.R841W|XRN2_uc002wsh.1_Missense_Mutation_p.R33W	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	895					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1						CCCATGGAACCGGATGCTGCA	0.532													T	21367540	C	T	21367540	3	4	55	1	0	0	0	0	1	0	0	0	17457	643	23	1	2797	1	XRN2	20	21367540	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	815366	21367540	41657980	1661	43009											
DNMT3B	1789	broad.mit.edu	37	chr20	31368231	31368231	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgaccagtcctccgactcGcccccaatcctggaggctat	9	17	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:31368231G>A	uc002wyc.2	+	2	423	c.102G>A	c.(100-102)TCG>TCA	p.S34S	DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Silent_p.S34S|DNMT3B_uc002wye.2_Silent_p.S34S|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Silent_p.S34S|DNMT3B_uc010zua.1_Silent_p.S34S|DNMT3B_uc002wyf.2_Silent_p.S46S	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	34	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5						CCTCCGACTCGCCCCCAATCC	0.647													A	31368231	G	A	31368231	2	1	55	1	0	0	0	0	0	0	0	1	4677	1074	38	1		1	DNMT3B	20	31368231	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	10000691	31368231	31657289	1662	43010											
DNMT3B	1789	broad.mit.edu	37	chr20	31375160	31375160	+	Frame_Shift_Del	DEL	C	C	-													gacgccccagagcagcagtaCcccctacgcccgcctagccc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:31375159_31375159AC>A	uc002wyc.3	+	5	877	c.556_556AC>A	c.(556-558)accfs	p.T186fs	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Frame_Shift_Del_p.T186fs|DNMT3B_uc002wye.3_Frame_Shift_Del_p.T186fs|DNMT3B_uc010ztz.2_Frame_Shift_Del_p.T144fs|DNMT3B_uc010zua.2_Frame_Shift_Del_p.T110fs|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Frame_Shift_Del_p.T198fs	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	186	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGCAGCAGTACCCCCTACGC	0.627													-	31375160	C	-	31375160	7	5	55	1	0	1	0	1	0	0	0	0	4677	507	18	0	615	0	DNMT3B	20	31375160	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	6929	31375160	31650360	1663	43011											
CDK5RAP1	51654	broad.mit.edu	37	chr20	31962015	31962015	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctctcatgaatcagctgcaGaacctgatgaaacagaacac	7	11	3	5			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:31962015G>T	uc010gek.2	-	10	1277	c.1153C>A	c.(1153-1155)CTG>ATG	p.L385M	CDK5RAP1_uc002wyy.2_Missense_Mutation_p.L281M|CDK5RAP1_uc002wyz.2_Missense_Mutation_p.L371M|CDK5RAP1_uc002wza.2_Missense_Mutation_p.L371M|CDK5RAP1_uc010gel.2_Missense_Mutation_p.L280M|CDK5RAP1_uc010gem.2_Missense_Mutation_p.L294M|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.L371M|CDK5RAP1_uc002wzb.1_5'Flank	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	385					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			ovary(2)|skin(2)|lung(1)	5						ATCAGCTGCAGAACCTGATGA	0.468													T	31962015	G	T	31962015	3	4	55	1	0	0	0	0	1	0	0	0	3145	933	33	5	676	5	CDK5RAP1	20	31962015	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	586855	31962015	31063505	1664	43012											
CBFA2T2	9139	broad.mit.edu	37	chr20	32224505	32224505	+	Frame_Shift_Del	DEL	A	A	-													acgtacctgtggagttttggAaaaaaacaggtatgtgtctg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:32224504_32224504GA>G	uc002wzg.1	+	9	1851	c.1314_1314GA>G	c.(1312-1314)tggfs	p.W438fs	CBFA2T2_uc010zug.1_Frame_Shift_Del_p.W212fs|CBFA2T2_uc002wze.1_Frame_Shift_Del_p.W429fs|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Frame_Shift_Del_p.W409fs|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript|CBFA2T2_uc002wzk.1_5'Flank	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	438						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TGGAGTTTTGGAAAAAAACAG	0.443													-	32224505	A	-	32224505	7	5	55	1	0	1	0	1	0	0	0	0	2697	247	9	0	1387	0	CBFA2T2	20	32224505	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	262490	32224505	30801015	1665	43013											
AHCY	191	broad.mit.edu	37	chr20	32883307	32883307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcttggaggccgagtacCgctcccgcatacgcatcagg	14	13	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:32883307C>T	uc002xai.2	-	2	252	c.113G>A	c.(112-114)CGG>CAG	p.R38Q	AHCY_uc002xaj.2_Missense_Mutation_p.R10Q|AHCY_uc010get.2_Missense_Mutation_p.R38Q	NM_000687	NP_000678	P23526	SAHH_HUMAN	adenosylhomocysteinase isoform 1	38					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding				0						GGCCGAGTACCGCTCCCGCAT	0.657													T	32883307	C	T	32883307	3	4	55	1	0	0	0	0	1	0	0	0	409	652	23	1	1221	1	AHCY	20	32883307	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	658802	32883307	30142213	1666	43014											
AHCY	191	broad.mit.edu	37	chr20	32883364	32883364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaatgtccagggccttgCgtccccaggcagccaggccg	13	16	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:32883364C>T	uc002xai.2	-	2	195	c.56G>A	c.(55-57)CGC>CAC	p.R19H	AHCY_uc002xaj.2_5'UTR|AHCY_uc010get.2_Missense_Mutation_p.R19H	NM_000687	NP_000678	P23526	SAHH_HUMAN	adenosylhomocysteinase isoform 1	19					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding				0						CAGGGCCTTGCGTCCCCAGGC	0.657													T	32883364	C	T	32883364	3	4	55	1	0	0	0	0	1	0	0	0	409	768	27	1	1278	1	AHCY	20	32883364	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	57	32883364	30142156	1667	43015											
MYH7B	57644	broad.mit.edu	37	chr20	33589114	33589114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaggcccttaagggcgtgCgcaagcatgagcgccgtgtc	15	13	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:33589114C>T	uc002xbi.1	+	40	5760	c.5668C>T	c.(5668-5670)CGC>TGC	p.R1890C		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	1848	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TAAGGGCGTGCGCAAGCATGA	0.657													T	33589114	C	T	33589114	3	4	55	1	0	0	0	0	1	0	0	0	10040	768	27	1	5826	1	MYH7B	20	33589114	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	705750	33589114	29436406	1668	43016											
C20orf152	140894	broad.mit.edu	37	chr20	34572684	34572684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcagaaggatgctcagtatCggtttgaattttttaggtaa	10	4	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:34572684C>T	uc002xes.1	+	6	856	c.700C>T	c.(700-702)CGG>TGG	p.R234W	C20orf152_uc002xer.1_Missense_Mutation_p.R234W|C20orf152_uc010gfp.1_RNA			Q96M20	CT152_HUMAN	SubName: Full=C20orf152 protein;	234	cNMP.										0	Breast(12;0.00631)					TGCTCAGTATCGGTTTGAATT	0.448													T	34572684	C	T	34572684	3	4	55	1	0	0	0	0	1	0	0	0	2092	875	31	1	722	1	C20orf152	20	34572684	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	983570	34572684	28452836	1669	43017											
CTNNBL1	56259	broad.mit.edu	37	chr20	36407704	36407704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgagcgcttcctgaaggGcgagggtcttcagctgatga	15	9	2	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:36407704G>A	uc010zvw.1	+	11	1089	c.998G>A	c.(997-999)GGC>GAC	p.G333D	CTNNBL1_uc002xhh.2_Missense_Mutation_p.G146D|CTNNBL1_uc002xhi.2_RNA|CTNNBL1_uc002xhj.2_Missense_Mutation_p.G81D	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	beta catenin-like 1	333					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			ovary(2)	2		Myeloproliferative disorder(115;0.00878)				TTCCTGAAGGGCGAGGGTCTT	0.483													A	36407704	G	A	36407704	3	1	55	1	0	0	0	0	1	0	0	0	4018	1203	42	2	1036	2	CTNNBL1	20	36407704	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1835020	36407704	26617816	1670	43018											
CTNNBL1	56259	broad.mit.edu	37	chr20	36431375	36431375	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgacattcttggcttaCgaaccatctttcccctcttt	5	12	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:36431375C>T	uc010zvw.1	+	12	1229	c.1138C>T	c.(1138-1140)CGA>TGA	p.R380*	CTNNBL1_uc002xhh.2_Nonsense_Mutation_p.R193*|CTNNBL1_uc002xhi.2_RNA|CTNNBL1_uc002xhj.2_Nonsense_Mutation_p.R128*	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	beta catenin-like 1	380					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			ovary(2)	2		Myeloproliferative disorder(115;0.00878)				TCTTGGCTTACGAACCATCTT	0.502													T	36431375	C	T	36431375	4	4	55	1	0	0	0	0	0	1	0	0	4018	528	19	1	1180	1	CTNNBL1	20	36431375	Nonsense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	23671	36431375	26594145	1671	43019											
SLC32A1	140679	broad.mit.edu	37	chr20	37353721	37353721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaagcccaaaatcacggcGtgggaggcaggctggaacgt	15	10	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:37353721G>A	uc002xjc.2	+	1	617	c.354G>A	c.(352-354)GCG>GCA	p.A118A		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	118	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AAATCACGGCGTGGGAGGCAG	0.672													A	37353721	G	A	37353721	2	1	55	1	0	0	0	0	0	0	0	1	14565	1132	40	1		1	SLC32A1	20	37353721	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	922346	37353721	25671799	1672	43020											
ACTR5	79913	broad.mit.edu	37	chr20	37378698	37378698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacagaagctgtgtgcaacCcactgtattcacggcaaatg	10	10	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:37378698C>T	uc002xjd.2	+	2	446	c.421C>T	c.(421-423)CCA>TCA	p.P141S		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog	141					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding				0		Myeloproliferative disorder(115;0.00878)				TGTGTGCAACCCACTGTATTC	0.423													T	37378698	C	T	37378698	3	4	55	1	0	0	0	0	1	0	0	0	215	623	22	4	427	4	ACTR5	20	37378698	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	24977	37378698	25646822	1673	43021											
R3HDML	140902	broad.mit.edu	37	chr20	42972055	42972055	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcatgaagtcctggtctgAggagaagtggcattacttgt	12	7	2	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:42972055A>G	uc002xls.1	+	3	591	c.419A>G	c.(418-420)GAG>GGG	p.E140G		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like precursor	140						extracellular region	peptidase inhibitor activity				0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			TCCTGGTCTGAGGAGAAGTGG	0.552													G	42972055	A	G	42972055	3	3	55	1	0	0	0	0	1	0	0	0	12889	304	11	3	429	3	R3HDML	20	42972055	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	5593357	42972055	20053465	1674	43022											
HNF4A	3172	broad.mit.edu	37	chr20	43056983	43056983	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctacctgcagggtcccccAgcgatgcaccccatgcccac	8	20	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:43056983A>G	uc002xma.2	+	9	1227	c.1138A>G	c.(1138-1140)AGC>GGC	p.S380G	HNF4A_uc002xlu.2_Missense_Mutation_p.S358G|HNF4A_uc002xlv.2_Missense_Mutation_p.S358G|HNF4A_uc002xlz.2_Missense_Mutation_p.S380G|HNF4A_uc010ggq.2_Missense_Mutation_p.S373G	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	380					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGGGTCCCCCAGCGATGCACC	0.597													G	43056983	A	G	43056983	3	3	55	1	0	0	0	0	1	0	0	0	7253	188	7	3	1350	3	HNF4A	20	43056983	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	84928	43056983	19968537	1675	43023											
SERINC3	10955	broad.mit.edu	37	chr20	43133514	43133514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggaggactgcaagaggcCggagcgaggctggtgttcct	19	8	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:43133514C>T	uc002xme.2	-	7	936	c.802G>A	c.(802-804)GGC>AGC	p.G268S	SERINC3_uc002xmf.1_Missense_Mutation_p.G268S|SERINC3_uc010ggs.1_Missense_Mutation_p.G261S|SERINC3_uc010zwp.1_Missense_Mutation_p.G213S	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	268	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TGCAAGAGGCCGGAGCGAGGC	0.493													T	43133514	C	T	43133514	3	4	55	1	0	0	0	0	1	0	0	0	14081	652	23	1	635	1	SERINC3	20	43133514	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	76531	43133514	19892006	1676	43024											
MMP9	4318	broad.mit.edu	37	chr20	44639239	44639239	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcgcgtgtacagccgggaCgcagacatcgtcatccagtt	11	13	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:44639239C>T	uc002xqz.2	+	3	508	c.489C>T	c.(487-489)GAC>GAT	p.D163D		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	163					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	ACAGCCGGGACGCAGACATCG	0.642													T	44639239	C	T	44639239	2	4	55	1	0	0	0	0	0	0	0	1	9669	535	19	1		1	MMP9	20	44639239	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1505725	44639239	18386281	1677	43025											
MMP9	4318	broad.mit.edu	37	chr20	44644923	44644923	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaggaccgcttctactgGcgcgtgagttcccggagtga	14	12	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:44644923G>A	uc002xqz.2	+	13	2059	c.2040G>A	c.(2038-2040)TGG>TGA	p.W680*		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	680	Hemopexin-like 4.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GCTTCTACTGGCGCGTGAGTT	0.532													A	44644923	G	A	44644923	4	1	55	1	0	0	0	0	0	1	0	0	9669	1212	42	2	2090	2	MMP9	20	44644923	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5684	44644923	18380597	1678	43026											
SLC13A3	64849	broad.mit.edu	37	chr20	45192098	45192098	+	Frame_Shift_Del	DEL	G	G	-													gaggcgaaggcgatggagttGgggggcgttgagaccgggag							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:45192098delG	uc002xsf.1	-	12	1625	c.1587delC	c.(1585-1587)CCCfs	p.P529fs	SLC13A3_uc010ghn.1_Frame_Shift_Del_p.P498fs|SLC13A3_uc010zxw.1_Frame_Shift_Del_p.P479fs|SLC13A3_uc002xsg.1_Frame_Shift_Del_p.P482fs|SLC13A3_uc010gho.1_Frame_Shift_Del_p.P447fs|SLC13A3_uc010zxx.1_Frame_Shift_Del_p.P431fs|SLC13A3_uc002xse.1_Frame_Shift_Del_p.P20fs|SLC13A3_uc010ghm.1_Frame_Shift_Del_p.P116fs|SLC13A3_uc010zxv.1_Frame_Shift_Del_p.P114fs	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	529	Cytoplasmic (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CGATGGAGTTGGGGGGCGTTG	0.632													-	45192098	G	-	45192098	7	5	55	1	0	1	0	1	0	0	0	0	14393	1335	47	0	229	0	SLC13A3	20	45192098	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	547175	45192098	17833422	1679	43027											
SLC2A10	81031	broad.mit.edu	37	chr20	45354379	45354379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaggccggaccacagtggGcctggggctggtgctcttcc	17	13	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:45354379G>A	uc002xsl.2	+	2	801	c.704G>A	c.(703-705)GGC>GAC	p.G235D		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	235	Helical; Name=7; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				ACCACAGTGGGCCTGGGGCTG	0.632													A	45354379	G	A	45354379	3	1	55	1	0	0	0	0	1	0	0	0	14539	1203	42	2	710	2	SLC2A10	20	45354379	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	162281	45354379	17671141	1680	43028											
NCOA3	8202	broad.mit.edu	37	chr20	46265451	46265451	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgcaccagctccaccaTtcctagctcaagtcaagaga	7	14	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:46265451T>G	uc002xtk.2	+	12	2526	c.2321T>G	c.(2320-2322)ATT>AGT	p.I774S	NCOA3_uc010ght.1_Missense_Mutation_p.I784S|NCOA3_uc002xtl.2_Missense_Mutation_p.I774S|NCOA3_uc002xtm.2_Missense_Mutation_p.I774S|NCOA3_uc002xtn.2_Missense_Mutation_p.I774S|NCOA3_uc010zyc.1_Missense_Mutation_p.I569S	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	774					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						AGCTCCACCATTCCTAGCTCA	0.408													G	46265451	T	G	46265451	3	3	55	1	0	0	0	0	1	0	0	0	10230	1493	52	5	2389	5	NCOA3	20	46265451	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	911072	46265451	16760069	1681	43029											
ADNP	23394	broad.mit.edu	37	chr20	49508146	49508146	+	Frame_Shift_Del	DEL	T	T	-													ttagaccaaaacccttcaacTtttccataggaactattctt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:49508145_49508145CT>C	uc002xvt.1	-	4	3451	c.3106_3106AG>G	c.(3106-3108)gttfs	p.V1036fs	ADNP_uc002xvu.1_Frame_Shift_Del_p.V1036fs	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	1036						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						AACCCTTCAACTTTTCCATAG	0.448													-	49508146	T	-	49508146	7	5	55	1	0	1	0	1	0	0	0	0	323	1606	56	0	207	0	ADNP	20	49508146	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	3242695	49508146	13517374	1682	43030											
MOCS3	27304	broad.mit.edu	37	chr20	49575756	49575756	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcaacctggcccgccaagTgctgcatggcgaggcactgg	15	13	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:49575756T>C	uc002xvy.1	+	1	394	c.377T>C	c.(376-378)GTG>GCG	p.V126A	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	126					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			skin(2)|ovary(1)	3						GCCCGCCAAGTGCTGCATGGC	0.662													C	49575756	T	C	49575756	3	2	55	1	0	0	0	0	1	0	0	0	9692	1696	59	3	379	3	MOCS3	20	49575756	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	67610	49575756	13449764	1683	43031											
KCNG1	3755	broad.mit.edu	37	chr20	49620767	49620767	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtgactgggaaggccatgaGcaggatgccgctcaggatgc	17	9	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:49620767G>C	uc002xwa.3	-	3	1646	c.1351C>G	c.(1351-1353)CTC>GTC	p.L451V		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	451	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						AAGGCCATGAGCAGGATGCCG	0.627													C	49620767	G	C	49620767	3	2	55	1	0	0	0	0	1	0	0	0	8027	971	34	5	194	5	KCNG1	20	49620767	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	45011	49620767	13404753	1684	43032											
KCNG1	3755	broad.mit.edu	37	chr20	49626736	49626736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggggctcatcctgcggcCgcagccgctgcgcccggcgg	18	17	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:49626736C>T	uc002xwa.3	-	2	435	c.140G>A	c.(139-141)CGG>CAG	p.R47Q	KCNG1_uc002xwb.2_Missense_Mutation_p.R47Q	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	47	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						ATCCTGCGGCCGCAGCCGCTG	0.711													T	49626736	C	T	49626736	3	4	55	1	0	0	0	0	1	0	0	0	8027	652	23	1	1409	1	KCNG1	20	49626736	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	5969	49626736	13398784	1685	43033											
ZFP64	55734	broad.mit.edu	37	chr20	50769726	50769726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgctccgactggtgcacGcggctgtgcttccggagggt	17	11	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:50769726G>A	uc002xwl.2	-	6	1354	c.1005C>T	c.(1003-1005)CGC>CGT	p.R335R	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Silent_p.R333R|ZFP64_uc002xwn.2_Silent_p.R281R	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	335	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						ACTGGTGCACGCGGCTGTGCT	0.592													A	50769726	G	A	50769726	2	1	55	1	0	0	0	0	0	0	0	1	17649	1074	38	1		1	ZFP64	20	50769726	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1142990	50769726	12255794	1686	43034											
CTCFL	140690	broad.mit.edu	37	chr20	56064027	56064028	+	RNA	INS	-	-	A													cctcccgacaagtttgcacaINSaaaaatgcatatgatgacat							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:56064026_56064027C>CA	uc010giu.3	-	3		c.656_657G>TG			CTCFL_uc010giv.3_Non-coding_Transcript			Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.						DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CAAGTTTGCACAAAAAATGCAT	0.455													A	56064028	-	A	56064027	6	5	55	0	1	1	1	0	0	0	0	0	4001	145	5	0		0	CTCFL	20	56064027	RNA	INS	-	TCGA-BR-7851-01A-11D-2201-08	5294301	56064027	6961493	1687	43035											
CTCFL	140690	broad.mit.edu	37	chr20	56089715	56089715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttggggacattttcgccGtgtttctgcagaatatgtat	10	6	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:56089715G>A	uc010gix.1	-	6	1925	c.1263C>T	c.(1261-1263)CAC>CAT	p.H421H	CTCFL_uc010giw.1_Silent_p.H421H|CTCFL_uc002xym.2_Silent_p.H421H|CTCFL_uc010giz.1_Silent_p.H9H|CTCFL_uc010giy.1_Silent_p.H91H|CTCFL_uc010gja.1_Intron|CTCFL_uc010gjb.1_Silent_p.H421H|CTCFL_uc010gjc.1_Silent_p.H421H|CTCFL_uc010gjd.1_Silent_p.H421H|CTCFL_uc010gje.2_Silent_p.H421H|CTCFL_uc010gjf.2_Silent_p.H216H|CTCFL_uc010gjg.2_Silent_p.H153H|CTCFL_uc010gjh.1_Intron|CTCFL_uc010gji.1_Silent_p.H216H|CTCFL_uc010gjj.1_Silent_p.H421H	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	421	C2H2-type 6.				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CATTTTCGCCGTGTTTCTGCA	0.488											OREG0026065	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	56089715	G	A	56089715	2	1	55	1	0	0	0	0	0	0	0	1	4001	1136	40	1		1	CTCFL	20	56089715	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	25688	56089715	6935805	1688	43036											
ZBP1	81030	broad.mit.edu	37	chr20	56190021	56190021	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatcctgtacaagtctcGgttcacatcttttgctgtcc	6	13	4	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:56190021G>A	uc002xyo.2	-	4	705	c.424C>T	c.(424-426)CGA>TGA	p.R142*	ZBP1_uc010gjm.2_Nonsense_Mutation_p.R142*|ZBP1_uc002xyp.2_Nonsense_Mutation_p.R67*|ZBP1_uc010zzn.1_Nonsense_Mutation_p.R142*	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1 isoform a	142	DRADA 2.					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			ovary(2)	2	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TACAAGTCTCGGTTCACATCT	0.547													A	56190021	G	A	56190021	4	1	55	1	0	0	0	0	0	1	0	0	17518	1124	39	1	962	1	ZBP1	20	56190021	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	100306	56190021	6835499	1689	43037											
TUBB1	81027	broad.mit.edu	37	chr20	57599576	57599576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggggctgagcatggccgCcaccttcattggcaacaaca	12	14	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:57599576C>T	uc002yak.2	+	4	1363	c.1094C>T	c.(1093-1095)GCC>GTC	p.A365V		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	beta tubulin 1, class VI	365					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			ovary(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	AGCATGGCCGCCACCTTCATT	0.542													T	57599576	C	T	57599576	3	4	55	1	0	0	0	0	1	0	0	0	16750	739	26	2	1108	2	TUBB1	20	57599576	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1409555	57599576	5425944	1690	43038											
LAMA5	3911	broad.mit.edu	37	chr20	60911481	60911481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccctccacgtgagcccgGcacatacagggaacctgtgc	12	16	0	1	rs140745444	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:60911481G>A	uc002ycq.2	-	18	2305	c.2238C>T	c.(2236-2238)TGC>TGT	p.C746C		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	746	Laminin EGF-like 9.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGTGAGCCCGGCACATACAGG	0.647													A	60911481	G	A	60911481	2	1	55	1	0	0	0	0	0	0	0	1	8609	1195	42	2		2	LAMA5	20	60911481	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3311905	60911481	2114039	1691	43039											
COL20A1	57642	broad.mit.edu	37	chr20	61959433	61959433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaccttcccttccagggCgagccgcagtcccttgccac	8	20	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:61959433C>T	uc011aau.1	+	33	3667	c.3567C>T	c.(3565-3567)GGC>GGT	p.G1189G	COL20A1_uc011aav.1_Silent_p.G1010G	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1189	Collagen-like 2.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					CCTTCCAGGGCGAGCCGCAGT	0.607													T	61959433	C	T	61959433	2	4	55	1	0	0	0	0	0	0	0	1	3679	755	27	1		1	COL20A1	20	61959433	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1047952	61959433	1066087	1692	43040											
C20orf195	79025	broad.mit.edu	37	chr20	62187663	62187663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgtgtttgaccgaaaggCgtcggcggctcaccaggact	14	11	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:62187663C>T	uc002yfj.2	+	2	739	c.647C>T	c.(646-648)GCG>GTG	p.A216V	C20orf195_uc002yfk.2_Missense_Mutation_p.A216V	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	hypothetical protein LOC79025	216											0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GACCGAAAGGCGTCGGCGGCT	0.622													T	62187663	C	T	62187663	3	4	55	1	0	0	0	0	1	0	0	0	2100	768	27	1	649	1	C20orf195	20	62187663	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	228230	62187663	837857	1693	43041											
RTEL1	51750	broad.mit.edu	37	chr20	62324527	62324527	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtgcggccccaccataaGcagcagtttgaggaggtctg	13	10	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:62324527G>A	uc002yfu.1	+	30	3226	c.2883G>A	c.(2881-2883)AAG>AAA	p.K961K	RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Silent_p.K961K|RTEL1_uc011abd.1_Silent_p.K985K|RTEL1_uc011abe.1_Silent_p.K738K|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Silent_p.K206K|TNFRSF6B_uc002yfy.2_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	961					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding				0	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCCACCATAAGCAGCAGTTTG	0.597													A	62324527	G	A	62324527	2	1	55	1	0	0	0	0	0	0	0	1	13720	962	34	2		2	RTEL1	20	62324527	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	136864	62324527	700993	1694	43042											
ZNF512B	57473	broad.mit.edu	37	chr20	62598009	62598009	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accggcctgctgatgggcccAggcttggaggcaggcagggg	19	11	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:62598009A>G	uc002yhl.1	-	5	573	c.519T>C	c.(517-519)CCT>CCC	p.P173P		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGATGGGCCCAGGCTTGGAGG	0.617													G	62598009	A	G	62598009	2	3	55	1	0	0	0	0	0	0	0	1	17954	175	7	3		3	ZNF512B	20	62598009	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	273482	62598009	427511	1695	43043											
OPRL1	4987	broad.mit.edu	37	chr20	62729761	62729761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacagcctcatgatccggcGgctccgtggagtccgcctgc	12	16	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:62729761G>A	uc002yic.2	+	5	1124	c.722G>A	c.(721-723)CGG>CAG	p.R241Q	OPRL1_uc002yid.2_Missense_Mutation_p.R241Q|OPRL1_uc002yif.3_Missense_Mutation_p.R236Q	NM_182647	NP_872588	P41146	OPRX_HUMAN	opiate receptor-like 1	241	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					ATGATCCGGCGGCTCCGTGGA	0.627													A	62729761	G	A	62729761	3	1	55	1	0	0	0	0	1	0	0	0	10886	1116	39	1	732	1	OPRL1	20	62729761	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	131752	62729761	295759	1696	43044											
PCMTD2	55251	broad.mit.edu	37	chr20	62904825	62904827	+	In_Frame_Del	DEL	GAA	GAA	-													acttggaagaggaacggaggGaagaagaagagaagaccccg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:62904824_62904826GGAA>G	uc002yil.4	+	5	1157_1159	c.957_959GGAA>G	c.(955-960)agggaa>agGa	p.E323del	PCMTD2_uc002yim.4_In_Frame_Del_p.E296del	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 (PCMTD2), transcript variant 1, mRNA.	323						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGGAACGGAGGGAAGAAGAAGAG	0.517													-	62904827	GAA	-	62904825	7	5	55	1	0	1	0	1	0	0	0	0	11587	1175	41	0	976	0	PCMTD2	20	62904825	In_Frame_Del	DEL	GAA	TCGA-BR-7851-01A-11D-2201-08	175064	62904825	120695	1697	43045											
TPTE	7179	broad.mit.edu	37	chr21	10971319	10971319	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggccgagctcaatgatgActcccgccaggtcagtcgga	14	12	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:10971319A>G	uc002yip.1	-	5	406	c.38T>C	c.(37-39)GTC>GCC	p.V13A	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.V13A|TPTE_uc002yir.1_Missense_Mutation_p.V13A|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	13					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTCAATGATGACTCCCGCCAG	0.328													G	10971319	A	G	10971319	3	3	55	1	0	0	0	0	1	0	0	0	16427	275	10	3	1697	3	TPTE	21	10971319	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08		10971319	37158576	1698	43046											
NRIP1	8204	broad.mit.edu	37	chr21	16340186	16340186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcaaagcttccttctttaCgtttaaattcatgatagaat	5	7	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:16340186C>T	uc002yjx.2	-	4	926	c.328G>A	c.(328-330)GTA>ATA	p.V110I		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	110	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TCCTTCTTTACGTTTAAATTC	0.463													T	16340186	C	T	16340186	3	4	55	1	0	0	0	0	1	0	0	0	10652	536	19	1	3152	1	NRIP1	21	16340186	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	5368867	16340186	31789709	1699	43047											
CYYR1	116159	broad.mit.edu	37	chr21	27840845	27840845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgcgtttccaggataaGgagggggtggagaacgctgt	16	7	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:27840845G>A	uc002ymd.2	-	4	762	c.440C>T	c.(439-441)CCT>CTT	p.P147L	CYYR1_uc011ack.1_RNA|CYYR1_uc002yme.2_Missense_Mutation_p.P148L	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	cysteine and tyrosine-rich 1 protein precursor	147	Cytoplasmic (Potential).|Poly-Pro.					integral to membrane					0						TCCAGGATAAGGAGGGGGTGG	0.532													A	27840845	G	A	27840845	3	1	55	1	0	0	0	0	1	0	0	0	4211	1000	35	4	28	4	CYYR1	21	27840845	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	11500659	27840845	20289050	1700	43048											
RNF160	26046	broad.mit.edu	37	chr21	30339484	30339484	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgggtctttgagaactgcAtcaataaaagggatcaactg	10	8	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:30339484A>G	uc002ymr.2	-	10	1480	c.1467T>C	c.(1465-1467)GAT>GAC	p.D489D	RNF160_uc010gll.1_RNA	NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	443							ligase activity|zinc ion binding				0						TGAGAACTGCATCAATAAAAG	0.279													G	30339484	A	G	30339484	2	3	55	1	0	0	0	0	0	0	0	1	13455	214	8	3		3	RNF160	21	30339484	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	2498639	30339484	17790411	1701	43049											
USP16	10600	broad.mit.edu	37	chr21	30426506	30426508	+	In_Frame_Del	DEL	TAA	TAA	-													tattttatgagagaatactgTaataatatcaaaagcacttt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:30426505_30426507GTAA>G	uc002ymy.3	+	17	2671_2673	c.2469_2471GTAA>G	c.(2467-2472)ctgtaa>ctGa	p.*824del	USP16_uc002ymx.3_In_Frame_Del_p.*823del|USP16_uc002ymw.3_In_Frame_Del_p.*824del|USP16_uc011acm.2_In_Frame_Del_p.*809del|USP16_uc011acn.2_In_Frame_Del_p.*490del|USP16_uc011aco.2_In_Frame_Del_p.*514del	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	Homo sapiens ubiquitin specific peptidase 16 (USP16), transcript variant 1, mRNA.	0					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.L823M(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AGAGAATACTGTAATAATATCAA	0.34													-	30426508	TAA	-	30426506	7	5	55	1	0	1	0	1	0	0	0	0	17044	1651	57	0	2536	0	USP16	21	30426506	In_Frame_Del	DEL	TAA	TCGA-BR-7851-01A-11D-2201-08	87022	30426506	17703389	1702	43050											
C21orf7	56911	broad.mit.edu	37	chr21	30464856	30464856	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattggatgctcactctgaaGccaaagtctattactgtgcc	9	10	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:30464856G>A	uc002yne.2	+	5	595	c.324G>A	c.(322-324)AAG>AAA	p.K108K	C21orf7_uc011acr.1_RNA|C21orf7_uc002ynd.2_RNA|C21orf7_uc010gln.2_RNA|C21orf7_uc002ynf.2_Silent_p.K108K	NM_020152	NP_064537	P57077	TAK1L_HUMAN	chromosome 21 open reading frame 7	108						cytosol|nucleus	protein binding			ovary(2)	2				Colorectal(56;0.248)		TCACTCTGAAGCCAAAGTCTA	0.473													A	30464856	G	A	30464856	2	1	55	1	0	0	0	0	0	0	0	1	2132	962	34	2		2	C21orf7	21	30464856	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	38350	30464856	17665039	1703	43051											
TIAM1	7074	broad.mit.edu	37	chr21	32502534	32502534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggtgagagtttacctgCactcgccaaagctcgaacct	9	13	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:32502534C>T	uc002yow.1	-	26	4514	c.4042G>A	c.(4042-4044)GCA>ACA	p.A1348T	TIAM1_uc011adk.1_Missense_Mutation_p.A1348T|TIAM1_uc011adl.1_Missense_Mutation_p.A1288T	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1348	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						AGTTTACCTGCACTCGCCAAA	0.473													T	32502534	C	T	32502534	3	4	55	1	0	0	0	0	1	0	0	0	15887	710	25	2	749	2	TIAM1	21	32502534	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2037678	32502534	15627361	1704	43052											
TIAM1	7074	broad.mit.edu	37	chr21	32589954	32589954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgctccttcgcttgctcGcggatctggacatggcctga	11	14	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:32589954G>A	uc002yow.1	-	10	2529	c.2057C>T	c.(2056-2058)GCG>GTG	p.A686V	TIAM1_uc011adk.1_Missense_Mutation_p.A686V|TIAM1_uc011adl.1_Missense_Mutation_p.A686V|TIAM1_uc002yox.1_Missense_Mutation_p.A294V	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	686					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TCGCTTGCTCGCGGATCTGGA	0.547													A	32589954	G	A	32589954	3	1	55	1	0	0	0	0	1	0	0	0	15887	1087	38	1	2798	1	TIAM1	21	32589954	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	87420	32589954	15539941	1705	43053											
SFRS15	57466	broad.mit.edu	37	chr21	33068925	33068925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggcagcagcgggtgcagCagcagcaggcacggtggcgg	20	10	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:33068925C>T	uc002ypd.2	-	8	1342	c.916G>A	c.(916-918)GCT>ACT	p.A306T	SFRS15_uc002ype.2_Missense_Mutation_p.A306T|SFRS15_uc010glu.2_Missense_Mutation_p.A291T|SFRS15_uc002ypf.1_5'UTR	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	306	Poly-Ala.					nucleus	nucleotide binding|RNA binding				0						GCGGGTGCAGCAGCAGCAGGC	0.527													T	33068925	C	T	33068925	3	4	55	1	0	0	0	0	1	0	0	0	14171	710	25	2	2579	2	SFRS15	21	33068925	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	478971	33068925	15060970	1706	43054											
SYNJ1	8867	broad.mit.edu	37	chr21	34011320	34011320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgggggccagactgaggCataggtgctgccacagggac	18	10	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:34011320C>T	uc002yqh.2	-	31	3930	c.3930G>A	c.(3928-3930)ATG>ATA	p.M1310I	SYNJ1_uc011ads.1_Missense_Mutation_p.M1224I|SYNJ1_uc002yqf.2_Missense_Mutation_p.M1255I|SYNJ1_uc002yqg.2_Missense_Mutation_p.M1224I|SYNJ1_uc002yqi.2_Missense_Mutation_p.M1310I|SYNJ1_uc002yqe.3_5'UTR	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	1271	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						CAGACTGAGGCATAGGTGCTG	0.572													T	34011320	C	T	34011320	3	4	55	1	0	0	0	0	1	0	0	0	15449	710	25	2	941	2	SYNJ1	21	34011320	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	942395	34011320	14118575	1707	43055											
DOPEY2	9980	broad.mit.edu	37	chr21	37586452	37586453	+	Frame_Shift_Ins	INS	-	-	T													atgaagaccagtcgtcttatINSttttttgaaaaatactccaa					rs147590869	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:37586451_37586452A>AT	uc002yvg.3	+	7	1056_1057	c.977_978A>AT	c.(976-978)tatfs	p.Y326fs	DOPEY2_uc011aeb.2_Frame_Shift_Ins_p.Y326fs	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	326					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGTCGTCTTATTTTTTTGAAA	0.396													T	37586453	-	T	37586452	7	5	55	1	0	1	1	0	0	0	0	0	4708	1500	52	0	1004	0	DOPEY2	21	37586452	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	3575132	37586452	10543443	1708	43056											
MORC3	23515	broad.mit.edu	37	chr21	37741943	37741945	+	In_Frame_Del	DEL	TAA	TAA	-													gtatttttacttgaaagtatTaatggcaaatctgaaagtcc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:37741942_37741944TTAA>T	uc002yvi.3	+	14	2352_2354	c.2276_2278TTAA>T	c.(2275-2280)attaat>aTat	p.N760del		NM_015358	NP_056173	Q14149	MORC3_HUMAN	Homo sapiens MORC family CW-type zinc finger 3 (MORC3), mRNA.	760					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	PML body|aggresome|intermediate filament cytoskeleton	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CTTGAAAGTATTAATGGCAAATC	0.36													-	37741945	TAA	-	37741943	7	5	55	1	0	1	0	1	0	0	0	0	9703	1742	61	0	2335	0	MORC3	21	37741943	In_Frame_Del	DEL	TAA	TCGA-BR-7851-01A-11D-2201-08	155491	37741943	10387952	1709	43057											
KCNJ15	3772	broad.mit.edu	37	chr21	39671742	39671742	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagccactgtgcagtcatcAccaagcagaatgggaagctg	11	11	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:39671742A>G	uc002ywv.2	+	4	861	c.559A>G	c.(559-561)ACC>GCC	p.T187A	KCNJ15_uc002yww.2_Missense_Mutation_p.T187A|KCNJ15_uc002ywx.2_Missense_Mutation_p.T187A	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	187	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						TGCAGTCATCACCAAGCAGAA	0.522													G	39671742	A	G	39671742	3	3	55	1	0	0	0	0	1	0	0	0	8049	159	6	3	561	3	KCNJ15	21	39671742	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	1929799	39671742	8458153	1710	43058											
ERG	2078	broad.mit.edu	37	chr21	39755470	39755470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagggctggagggtggggcGccacaaagttcatcttctgt	17	8	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:39755470G>A	uc010gnw.2	-	12	1611	c.1316C>T	c.(1315-1317)GCG>GTG	p.A439V	ERG_uc002yxa.2_Missense_Mutation_p.A432V|ERG_uc011aek.1_Missense_Mutation_p.A340V|ERG_uc010gnv.2_Missense_Mutation_p.A316V|ERG_uc010gnx.2_Missense_Mutation_p.A415V|ERG_uc011ael.1_Missense_Mutation_p.A439V|ERG_uc002yxb.2_Missense_Mutation_p.A415V	NM_001136155	NP_001129627	P11308	ERG_HUMAN	ets-related isoform 4	439					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828		Prostate(19;3.6e-06)				AGGGTGGGGCGCCACAAAGTT	0.572													A	39755470	G	A	39755470	3	1	55	1	0	0	0	0	1	0	0	0	5222	1087	38	1	148	1	ERG	21	39755470	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	83728	39755470	8374425	1711	43059											
DSCAM	1826	broad.mit.edu	37	chr21	41423955	41423955	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaccgattggtaatggacCgtgtgagtgaccgtcaggga	15	8	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:41423955C>T	uc002yyq.1	-	30	5567	c.5115G>A	c.(5113-5115)ACG>ACA	p.T1705T	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1705	Cytoplasmic (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGTAATGGACCGTGTGAGTGA	0.537													T	41423955	C	T	41423955	2	4	55	1	0	0	0	0	0	0	0	1	4768	639	23	1		1	DSCAM	21	41423955	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1668485	41423955	6705940	1712	43060											
DSCAM	1826	broad.mit.edu	37	chr21	41496183	41496183	+	Frame_Shift_Del	DEL	G	G	-													tgatgccgttcagcttgagaGggggaagccaggacacaaag							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:41496182_41496182AG>A	uc002yyq.1	-	19	4088	c.3636_3636CT>T	c.(3634-3636)cctfs	p.P1212fs	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1212	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCAGCTTGAGAGGGGGAAGCC	0.552													-	41496183	G	-	41496183	7	5	55	1	0	1	0	1	0	0	0	0	4768	1000	35	0	2459	0	DSCAM	21	41496183	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	72228	41496183	6633712	1713	43061											
TRPM2	7226	broad.mit.edu	37	chr21	45811268	45811268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtttgtcacctgggacacCttgctctacctgtacgagaa	10	11	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:45811268C>T	uc002zet.1	+	12	1767	c.1554C>T	c.(1552-1554)ACC>ACT	p.T518T	TRPM2_uc002zeu.1_Silent_p.T518T|TRPM2_uc002zew.1_Silent_p.T518T|TRPM2_uc010gpt.1_Silent_p.T518T|TRPM2_uc002zex.1_Silent_p.T304T|TRPM2_uc002zey.1_Silent_p.T31T	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	518	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CCTGGGACACCTTGCTCTACC	0.557													T	45811268	C	T	45811268	2	4	55	1	0	0	0	0	0	0	0	1	16583	668	24	4		4	TRPM2	21	45811268	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	4315085	45811268	2318627	1714	43062											
C21orf29	54084	broad.mit.edu	37	chr21	45948410	45948410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcaaaccagaactgggCgtcttccacctcggtacacg	10	14	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:45948410C>T	uc002zfe.1	-	6	913	c.847G>A	c.(847-849)GCC>ACC	p.A283T	C21orf29_uc010gpv.1_Missense_Mutation_p.A215T	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	283					cell adhesion	extracellular region	structural molecule activity				0						CAGAACTGGGCGTCTTCCACC	0.607													T	45948410	C	T	45948410	3	4	55	1	0	0	0	0	1	0	0	0	2124	768	27	1	1190	1	C21orf29	21	45948410	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	137142	45948410	2181485	1715	43063											
C21orf70	85395	broad.mit.edu	37	chr21	46387053	46387053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctcagggatgccctgcccGagctgctggggctcgaggct	15	14	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:46387053G>A	uc002zgl.2	+	4	475	c.457G>A	c.(457-459)GAG>AAG	p.E153K	C21orf70_uc002zgm.2_Missense_Mutation_p.E138K	NM_058190	NP_478070	Q9NSI2	CU070_HUMAN	hypothetical protein LOC85395	153											0				Colorectal(79;0.248)		TGCCCTGCCCGAGCTGCTGGG	0.701													A	46387053	G	A	46387053	3	1	55	1	0	0	0	0	1	0	0	0	2133	1059	37	1	471	1	C21orf70	21	46387053	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	438643	46387053	1742842	1716	43064											
COL18A1	80781	broad.mit.edu	37	chr21	46925297	46925297	+	Frame_Shift_Del	DEL	C	C	-													agcgttcccggccctccgggCccccctgggccccctgggcc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:46925297delC	uc011afs.1	+	36	4296	c.4275delC	c.(4273-4275)GGCfs	p.G1425fs	COL18A1_uc002zhg.2_Frame_Shift_Del_p.G1010fs|COL18A1_uc002zhi.2_Frame_Shift_Del_p.G1190fs|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_5'UTR|COL18A1_uc002zhk.2_5'Flank	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1428	Triple-helical region 10 (COL10).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCCCTCCGGGCccccctgggc	0.597													-	46925297	C	-	46925297	7	5	55	1	0	1	0	1	0	0	0	0	3675	726	26	0	4531	0	COL18A1	21	46925297	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	538244	46925297	1204598	1717	43065											
FTCD	10841	broad.mit.edu	37	chr21	47571590	47571591	+	Frame_Shift_Ins	INS	-	-	C													cctcgcccccgtggccgtggINSccccccaactggggacaaag							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:47571590_47571591insC	uc002zif.2	-	5	561_562	c.517_518insG	c.(517-519)GCCfs	p.A173fs	FTCD_uc002zig.2_Frame_Shift_Ins_p.A173fs|FTCD_uc002zih.2_Frame_Shift_Ins_p.A173fs|FTCD_uc010gqf.2_Frame_Shift_Ins_p.A173fs|FTCD_uc010gqg.1_Frame_Shift_Ins_p.A42fs	NM_006657	NP_006648	O95954	FTCD_HUMAN	formiminotransferase cyclodeaminase	173	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			pancreas(1)|skin(1)	2	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CGTGGCCGTGGCCCCCCAACTG	0.639													C	47571591	-	C	47571590	7	5	55	1	0	1	1	0	0	0	0	0	6081	1203	42	0	1147	0	FTCD	21	47571590	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	646293	47571590	558305	1718	43066	151	2									
FTCD	10841	broad.mit.edu	37	chr21	47571591	47571592	+	Frame_Shift_Ins	INS	-	-	C													ctcgcccccgtggccgtggcINScccccaactggggacaaagg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:47571590_47571591G>GC	uc002zig.3	-	4	561_562	c.517_518C>GC	c.(517-519)gccfs	p.A173fs	FTCD_uc002zif.3_Frame_Shift_Ins_p.A173fs|FTCD_uc002zih.3_Frame_Shift_Ins_p.A173fs|FTCD_uc010gqf.3_Frame_Shift_Ins_p.A173fs|FTCD_uc010gqg.1_Frame_Shift_Ins_p.A42fs			O95954	FTCD_HUMAN	Homo sapiens formiminotransferase cyclodeaminase (FTCD), transcript variant B, mRNA.	173	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	Golgi apparatus|centriole|cytosol	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CGTGGCCGTGGCCCCCCAACTG	0.639													C	47571592	-	C	47571591	7	5	55	1	0	1	1	0	0	0	0	0	6081	739	26	0	1148	0	FTCD	21	47571591	Frame_Shift_Ins	INS	-	TCGA-BR-7851-01A-11D-2201-08	1	47571591	558304	1719	43067	151	2									
MCM3AP	8888	broad.mit.edu	37	chr21	47662805	47662805	+	Frame_Shift_Del	DEL	A	A	-													tattttttcaaatcgtttttAaaaaaatacacacatatctg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:47662804_47662804TA>T	uc002zir.1	-	24	5374	c.5338_5338TA>A	c.(5338-5340)aaafs	p.K1780fs	MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Frame_Shift_Del_p.K275fs|MCM3AP_uc002zip.1_Frame_Shift_Del_p.K521fs|MCM3AP_uc002ziq.1_Frame_Shift_Del_p.K707fs|MCM3AP-AS1_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1780					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.K1780fs*5(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AAATCGTTTTTAAAAAAATAC	0.438													-	47662805	A	-	47662805	7	5	55	1	0	1	0	1	0	0	0	0	9388	359	13	0	621	0	MCM3AP	21	47662805	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	91214	47662805	467090	1720	43068											
CECR2	27443	broad.mit.edu	37	chr22	18022614	18022614	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccaatgtcagtcactgtgTcagcccccaagcctgccctg	8	17	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:18022614T>C	uc010gqw.1	+	15	2842	c.2716T>C	c.(2716-2718)TCA>CCA	p.S906P	CECR2_uc010gqv.1_Missense_Mutation_p.S765P|CECR2_uc002zml.2_Missense_Mutation_p.S765P	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	948					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		AGTCACTGTGTCAGCCCCCAA	0.597													C	18022614	T	C	18022614	3	2	55	1	0	0	0	0	1	0	0	0	3206	1667	58	3	2776	3	CECR2	22	18022614	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08		18022614	33281952	1721	43069											
DGCR14	8220	broad.mit.edu	37	chr22	19130071	19130071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcctccaggcctcggccgCggggcctgggcttgttgccc	14	17	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:19130071C>T	uc002zou.2	-	3	417	c.380G>A	c.(379-381)CGC>CAC	p.R127H	DGCR14_uc002zot.2_Missense_Mutation_p.R48H|DGCR14_uc002zov.2_RNA	NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region protein 14	127					nervous system development	catalytic step 2 spliceosome				ovary(1)	1	Colorectal(54;0.0993)					GCCTCGGCCGCGGGGCCTGGG	0.597													T	19130071	C	T	19130071	3	4	55	1	0	0	0	0	1	0	0	0	4460	768	27	1	1082	1	DGCR14	22	19130071	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1107457	19130071	32174495	1722	43070											
CLTCL1	8218	broad.mit.edu	37	chr22	19263160	19263160	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttacctttcagagctatcAccttagaggctggattcatg	9	9	3	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:19263160A>G	uc002zpb.2	-	2	311	c.236T>C	c.(235-237)GTG>GCG	p.V79A	CLTCL1_uc011agv.1_Missense_Mutation_p.V79A|CLTCL1_uc011agw.1_Missense_Mutation_p.V79A	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	79	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					CAGAGCTATCACCTTAGAGGC	0.453			T	?	ALCL								G	19263160	A	G	19263160	3	3	55	1	0	0	0	0	1	0	0	0	3567	159	6	3	4810	3	CLTCL1	22	19263160	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	133089	19263160	32041406	1723	43071											
UFD1L	7353	broad.mit.edu	37	chr22	19442297	19442297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacctttttgacaaggggaCgtgaatttctgatgaaagtt	10	6	1	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:19442297C>T	uc002zpm.2	-	11	954	c.824G>A	c.(823-825)CGT>CAT	p.R275H	UFD1L_uc002zpo.2_Intron|UFD1L_uc011agy.1_Missense_Mutation_p.R275H|UFD1L_uc002zpp.2_Missense_Mutation_p.R228H	NM_005659	NP_005650	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1-like isoform A	275					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity				0	Colorectal(54;0.0993)					GACAAGGGGACGTGAATTTCT	0.363													T	19442297	C	T	19442297	3	4	55	1	0	0	0	0	1	0	0	0	16932	536	19	1	107	1	UFD1L	22	19442297	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	179137	19442297	31862269	1724	43072											
HIC2	23119	broad.mit.edu	37	chr22	21799284	21799284	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccactcgaagcagctcctgCtgcagctgaaccagcagagg	12	14	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:21799284C>T	uc002zur.3	+	3	330	c.100C>T	c.(100-102)CTG>TTG	p.L34L	HIC2_uc002zus.3_Silent_p.L34L	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	34					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GCAGCTCCTGCTGCAGCTGAA	0.642													T	21799284	C	T	21799284	2	4	55	1	0	0	0	0	0	0	0	1	7102	796	28	2		2	HIC2	22	21799284	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2356987	21799284	29505282	1725	43073											
PPM1F	9647	broad.mit.edu	37	chr22	22287763	22287763	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccagcggccagtcctcacCtctcgcttggctttcctgag	10	17	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:22287763C>A	uc002zvp.1	-	5	861	c.747G>T	c.(745-747)GAG>GAT	p.E249D	PPM1F_uc011aik.1_Missense_Mutation_p.E145D|PPM1F_uc002zvq.2_Missense_Mutation_p.E249D	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	249					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CAGTCCTCACCTCTCGCTTGG	0.642													A	22287763	C	A	22287763	3	1	55	1	0	0	0	0	1	0	0	0	12339	695	24	5	633	5	PPM1F	22	22287763	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	488479	22287763	29016803	1726	43074											
MMP11	4320	broad.mit.edu	37	chr22	24122599	24122599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtgcggcagacgatggCagaggccctaaaggtatgga	17	8	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:24122599C>T	uc002zxx.2	+	3	414	c.392C>T	c.(391-393)GCA>GTA	p.A131V	MMP11_uc002zxy.2_RNA|MMP11_uc002zxz.2_5'Flank	NM_005940	NP_005931	P24347	MMP11_HUMAN	matrix metalloproteinase 11 preproprotein	131					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(2)|large_intestine(1)	3		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				CAGACGATGGCAGAGGCCCTA	0.622													T	24122599	C	T	24122599	3	4	55	1	0	0	0	0	1	0	0	0	9650	710	25	2	402	2	MMP11	22	24122599	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1834836	24122599	27181967	1727	43075											
SMARCB1	6598	broad.mit.edu	37	chr22	24135751	24135751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgtctgttacagatcacGgatacacgactctagccacc	8	12	3	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:24135751G>A	uc002zyb.2	+	3	445	c.238G>A	c.(238-240)GGA>AGA	p.G80R	SMARCB1_uc002zyg.2_Missense_Mutation_p.G80R|SMARCB1_uc011ajb.1_Missense_Mutation_p.G71R|SMARCB1_uc002zya.2_Missense_Mutation_p.G80R|SMARCB1_uc002zyc.2_Missense_Mutation_p.G71R|SMARCB1_uc002zyd.2_Missense_Mutation_p.G71R|SMARCB1_uc002zye.1_Missense_Mutation_p.G43R|SMARCB1_uc002zyf.1_RNA|SMARCB1_uc010gue.1_Intron	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	80					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TACAGATCACGGATACACGAC	0.537			D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis				A	24135751	G	A	24135751	3	1	55	1	0	0	0	0	1	0	0	0	14774	1117	39	1	248	1	SMARCB1	22	24135751	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	13152	24135751	27168815	1728	43076											
HSCB	150274	broad.mit.edu	37	chr22	29141967	29141967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagctgaaagtgaagctgCcatgaaagagattgaatcca	11	6	0	6			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:29141967C>T	uc003aea.2	+	4	580	c.539C>T	c.(538-540)GCC>GTC	p.A180V		NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN	J-type co-chaperone HSC20 precursor	180					iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)	1						AGTGAAGCTGCCATGAAAGAG	0.348													T	29141967	C	T	29141967	3	4	55	1	0	0	0	0	1	0	0	0	7374	739	26	2	553	2	HSCB	22	29141967	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	5006216	29141967	22162599	1729	43077											
AP1B1	162	broad.mit.edu	37	chr22	29752476	29752476	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtccaggatgaagatctGgccccactcggtgcactcat	11	13	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:29752476G>A	uc003afj.2	-	6	839	c.655C>T	c.(655-657)CAG>TAG	p.Q219*	AP1B1_uc003afi.2_Nonsense_Mutation_p.Q219*|AP1B1_uc003afk.2_Nonsense_Mutation_p.Q219*|AP1B1_uc003afl.2_Nonsense_Mutation_p.Q219*	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	219					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						ATGAAGATCTGGCCCCACTCG	0.602													A	29752476	G	A	29752476	4	1	55	1	0	0	0	0	0	1	0	0	731	1357	47	4	2266	4	AP1B1	22	29752476	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	610509	29752476	21552090	1730	43078											
RNF215	200312	broad.mit.edu	37	chr22	30776051	30776051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctacccggggcactagcCtgtttgttgcagaagtagtc	11	11	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:30776051C>T	uc003ahp.2	-	7	1008	c.1008G>A	c.(1006-1008)CAG>CAA	p.Q336Q	RNF215_uc011akw.1_Silent_p.Q241Q	NM_001017981	NP_001017981	Q9Y6U7	RN215_HUMAN	ring finger protein 215	336	Cytoplasmic (Potential).|RING-type; atypical.					integral to membrane	zinc ion binding			central_nervous_system(1)	1						GGGCACTAGCCTGTTTGTTGC	0.627													T	30776051	C	T	30776051	2	4	55	1	0	0	0	0	0	0	0	1	13479	695	24	4		4	RNF215	22	30776051	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1023575	30776051	20528515	1731	43079											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951569	30951569	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgaagaagagcaggtttcGgaggtagtgggcattgaagc	17	5	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:30951569G>A	uc003aig.1	-	4	783	c.643C>T	c.(643-645)CGA>TGA	p.R215*	GAL3ST1_uc003aih.1_Nonsense_Mutation_p.R215*|GAL3ST1_uc003aii.1_Nonsense_Mutation_p.R215*|GAL3ST1_uc010gvz.1_Nonsense_Mutation_p.R215*	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	215	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						AGCAGGTTTCGGAGGTAGTGG	0.627													A	30951569	G	A	30951569	4	1	55	1	0	0	0	0	0	1	0	0	6197	1124	39	1	632	1	GAL3ST1	22	30951569	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	175518	30951569	20352997	1732	43080											
MYH9	4627	broad.mit.edu	37	chr22	36684826	36684826	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcgtcccggccctgcaGgtcccgctcgaactgggcct	12	18	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:36684826G>T	uc003apg.2	-	33	4948	c.4717C>A	c.(4717-4719)CTG>ATG	p.L1573M		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1573	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CGGCCCTGCAGGTCCCGCTCG	0.642			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				T	36684826	G	T	36684826	3	4	55	1	0	0	0	0	1	0	0	0	10042	991	35	5	1201	5	MYH9	22	36684826	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5733257	36684826	14619740	1733	43081											
SSTR3	6753	broad.mit.edu	37	chr22	37602749	37602749	+	Frame_Shift_Del	DEL	C	C	-													cgttcatctccttccccttgCccccctccctgctctcctcc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:37602749delC	uc003ara.2	-	2	1156	c.1094delG	c.(1093-1095)GGCfs	p.G365fs	SSTR3_uc003arb.2_Frame_Shift_Del_p.G365fs	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	365	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1						CTTCCCCTTGCCCCCCTCCCT	0.582													-	37602749	C	-	37602749	7	5	55	1	0	1	0	1	0	0	0	0	15198	739	26	0	166	0	SSTR3	22	37602749	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	917923	37602749	13701817	1734	43082											
SSTR3	6753	broad.mit.edu	37	chr22	37603060	37603060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacgaagagcgccaccacGgccaccaccatgcgcgtgac	11	17	0	2	rs144127697		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:37603060G>A	uc003ara.2	-	2	845	c.783C>T	c.(781-783)GCC>GCT	p.A261A	SSTR3_uc003arb.2_Silent_p.A261A	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	261	Helical; Name=6; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1						GCGCCACCACGGCCACCACCA	0.672													A	37603060	G	A	37603060	2	1	55	1	0	0	0	0	0	0	0	1	15198	1103	39	1		1	SSTR3	22	37603060	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	311	37603060	13701506	1735	43083											
ELFN2	114794	broad.mit.edu	37	chr22	37771425	37771425	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggtgctattgatgtgctgCgggatggtctcgtagggcgg	18	7	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:37771425C>T	uc003asq.3	-	3	936	c.150G>A	c.(148-150)CCG>CCA	p.P50P		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	50	Extracellular (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					TGATGTGCTGCGGGATGGTCT	0.627													T	37771425	C	T	37771425	2	4	55	1	0	0	0	0	0	0	0	1	5058	755	27	1		1	ELFN2	22	37771425	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	168365	37771425	13533141	1736	43084											
DDX17	10521	broad.mit.edu	37	chr22	38895455	38895455	+	Frame_Shift_Del	DEL	C	C	-													cgggtttaggacaaacatctCcccccctcactgtaatctcc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:38895454_38895454TC>T	uc003avy.4	-	2	592	c.489_489GA>A	c.(487-489)ggafs	p.G163fs	DDX17_uc003avx.4_Frame_Shift_Del_p.G163fs|DDX17_uc011anu.2_Frame_Shift_Del_p.G76fs	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCA	0.383													-	38895455	C	-	38895455	7	5	55	1	0	1	0	1	0	0	0	0	4344	855	30	0	1751	0	DDX17	22	38895455	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	1124030	38895455	12409111	1737	43085											
TNRC6B	23112	broad.mit.edu	37	chr22	40657921	40657921	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccaccagtcaatggtggCaacaatgccaaaagggtggc	12	11	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:40657921C>T	uc011aor.1	+	4	412	c.201C>T	c.(199-201)GGC>GGT	p.G67G	TNRC6B_uc003aym.2_Silent_p.G103G|TNRC6B_uc003ayn.3_Silent_p.G67G|TNRC6B_uc003ayo.2_5'Flank	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	67					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						TCAATGGTGGCAACAATGCCA	0.612													T	40657921	C	T	40657921	2	4	55	1	0	0	0	0	0	0	0	1	16338	697	25	2		2	TNRC6B	22	40657921	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1762466	40657921	10646645	1738	43086											
SLC25A17	10478	broad.mit.edu	37	chr22	41195058	41195058	+	Frame_Shift_Del	DEL	A	A	-													agtctagctgtatccaggggAaaaaacactgtcattgctgt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:41195057_41195057GA>G	uc003azc.3	-	1	225	c.85_85TC>C	c.(85-87)cccfs	p.P29fs	SLC25A17_uc010gyg.3_Non-coding_Transcript|SLC25A17_uc011aou.2_5'UTR|SLC25A17_uc003azd.3_Non-coding_Transcript|SLC25A17_uc011aov.2_Frame_Shift_Del_p.P29fs	NM_006358	NP_006349	O43808	PM34_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 (SLC25A17), nuclear gene encoding mitochondrial protein, mRNA.	29					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						GTATCCAGGGGAAAAAACACT	0.363													-	41195058	A	-	41195058	7	5	55	1	0	1	0	1	0	0	0	0	14479	243	9	0	871	0	SLC25A17	22	41195058	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	537137	41195058	10109508	1739	43087											
ZC3H7B	23264	broad.mit.edu	37	chr22	41723285	41723285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtatccgggcgttgttcCgcaaggcacgcgctctcaat	12	12	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:41723285C>T	uc003azw.2	+	5	577	c.361C>T	c.(361-363)CGC>TGC	p.R121C	ZC3H7B_uc003azv.1_Missense_Mutation_p.R121C|ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	121	TPR 3.				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						GGCGTTGTTCCGCAAGGCACG	0.637													T	41723285	C	T	41723285	3	4	55	1	0	0	0	0	1	0	0	0	17570	652	23	1	375	1	ZC3H7B	22	41723285	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	528227	41723285	9581281	1740	43088											
ACO2	50	broad.mit.edu	37	chr22	41919894	41919894	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctacaacaggaacttcacGggccgcaacgacgcaaaccc	8	16	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:41919894G>A	uc003bac.2	+	12	1453	c.1431G>A	c.(1429-1431)ACG>ACA	p.T477T	ACO2_uc003bad.2_Silent_p.T502T	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	477					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(2)|ovary(1)|lung(1)	4						GGAACTTCACGGGCCGCAACG	0.597													A	41919894	G	A	41919894	2	1	55	1	0	0	0	0	0	0	0	1	147	1103	39	1		1	ACO2	22	41919894	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	196609	41919894	9384672	1741	43089											
MEI1	150365	broad.mit.edu	37	chr22	42095566	42095566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgaggcaggcggcgacGgcgggcactcccgggcccag	19	14	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:42095566G>A	uc003baz.1	+	1	49	c.24G>A	c.(22-24)ACG>ACA	p.T8T	MEI1_uc003bay.3_Silent_p.T8T|MEI1_uc011apd.1_RNA	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	8							binding			central_nervous_system(1)|skin(1)	2						AGGCGGCGACGGCGGGCACTC	0.697													A	42095566	G	A	42095566	2	1	55	1	0	0	0	0	0	0	0	1	9465	1103	39	1		1	MEI1	22	42095566	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	175672	42095566	9209000	1742	43090											
SCUBE1	80274	broad.mit.edu	37	chr22	43606145	43606145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgctttgggggaggcgCgatgtgccagacgcattcag	16	11	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:43606145C>T	uc003bdt.1	-	19	2573	c.2485G>A	c.(2485-2487)GCG>ACG	p.A829T		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	829	CUB.				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				GGGGGAGGCGCGATGTGCCAG	0.607													T	43606145	C	T	43606145	3	4	55	1	0	0	0	0	1	0	0	0	13944	768	27	1	497	1	SCUBE1	22	43606145	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1510579	43606145	7698421	1743	43091											
FBLN1	2192	broad.mit.edu	37	chr22	45928968	45928968	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccctgcaagcagcagtgCcgagacacgggtgacgaggt	17	11	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:45928968C>T	uc003bgj.1	+	6	717	c.570C>T	c.(568-570)TGC>TGT	p.C190C	FBLN1_uc003bgg.1_Silent_p.C190C|FBLN1_uc003bgh.2_Silent_p.C190C|FBLN1_uc010gzz.2_Silent_p.C228C|FBLN1_uc003bgi.1_Silent_p.C190C	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	190	EGF-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AGCAGCAGTGCCGAGACACGG	0.627													T	45928968	C	T	45928968	2	4	55	1	0	0	0	0	0	0	0	1	5698	747	26	2		2	FBLN1	22	45928968	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	2322823	45928968	5375598	1744	43092											
CELSR1	9620	broad.mit.edu	37	chr22	46785200	46785200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctacctcgtgaaagtcgGcgtcctgcgtggctgccagg	14	14	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:46785200G>A	uc003bhw.1	-	18	6542	c.6542C>T	c.(6541-6543)GCC>GTC	p.A2181V	CELSR1_uc011arc.1_Missense_Mutation_p.A502V	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2181	Extracellular (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTGAAAGTCGGCGTCCTGCGT	0.597													A	46785200	G	A	46785200	3	1	55	1	0	0	0	0	1	0	0	0	3221	1203	42	2	2574	2	CELSR1	22	46785200	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	856232	46785200	4519366	1745	43093											
CELSR1	9620	broad.mit.edu	37	chr22	46930758	46930758	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaggacatgcgcagtgtgCgaccgtgtgccgtcggatgc	15	10	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:46930758C>T	uc003bhw.1	-	1	2310	c.2310G>A	c.(2308-2310)TCG>TCA	p.S770S		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	770	Extracellular (Potential).|Cadherin 5.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCGCAGTGTGCGACCGTGTGC	0.602													T	46930758	C	T	46930758	2	4	55	1	0	0	0	0	0	0	0	1	3221	755	27	1		1	CELSR1	22	46930758	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	145558	46930758	4373808	1746	43094											
GRAMD4	23151	broad.mit.edu	37	chr22	47054158	47054158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggaccgcgagcggcagCggcggatggagctggagcag	20	10	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:47054158C>T	uc003bhx.2	+	3	397	c.358C>T	c.(358-360)CGG>TGG	p.R120W	GRAMD4_uc010had.2_Missense_Mutation_p.R59W	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	120	Potential.				apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CGAGCGGCAGCGGCGGATGGA	0.682													T	47054158	C	T	47054158	3	4	55	1	0	0	0	0	1	0	0	0	6752	759	27	1	368	1	GRAMD4	22	47054158	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	123400	47054158	4250408	1747	43095											
ZBED4	9889	broad.mit.edu	37	chr22	50279583	50279583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccttcgagtcgccagcccGgccgcgctgtgacgaccacc	11	18	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:50279583G>A	uc003bix.2	+	2	2743	c.2273G>A	c.(2272-2274)CGG>CAG	p.R758Q		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	758						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TCGCCAGCCCGGCCGCGCTGT	0.602													A	50279583	G	A	50279583	3	1	55	1	0	0	0	0	1	0	0	0	17517	1116	39	1	2275	1	ZBED4	22	50279583	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3225425	50279583	1024983	1748	43096											
TUBGCP6	85378	broad.mit.edu	37	chr22	50661008	50661008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagagcttgctgtagtggtCgaccagtgcctgcctgaagc	14	10	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:50661008C>T	uc003bkb.1	-	14	2796	c.2284G>A	c.(2284-2286)GAC>AAC	p.D762N	TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Intron|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_5'UTR	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	762					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTGTAGTGGTCGACCAGTGCC	0.602													T	50661008	C	T	50661008	3	4	55	1	0	0	0	0	1	0	0	0	16767	884	31	1	3223	1	TUBGCP6	22	50661008	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	381425	50661008	643558	1749	43097											
HDAC10	83933	broad.mit.edu	37	chr22	50686206	50686206	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggccagggactcgtgtggcCtgtggtggacagaccagagg	19	9	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:50686206C>A	uc003bkg.2	-	14	1711	c.1338_splice	c.e14-1	p.R446_splice	TUBGCP6_uc003bkb.1_5'Flank|TUBGCP6_uc010har.1_5'Flank|TUBGCP6_uc010has.1_5'Flank|TUBGCP6_uc010hau.1_5'Flank|HDAC10_uc003bke.2_Splice_Site_p.R172_splice|HDAC10_uc003bkf.2_Splice_Site_p.R172_splice|HDAC10_uc010hav.2_Splice_Site_p.R426_splice|HDAC10_uc003bkh.2_Splice_Site_p.R239_splice|HDAC10_uc003bki.2_Splice_Site_p.R396_splice|HDAC10_uc003bkj.2_Intron|HDAC10_uc003bkk.1_Missense_Mutation_p.G118C	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	histone deacetylase 10 isoform 1						negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCGTGTGGCCTGTGGTGGAC	0.642													A	50686206	C	A	50686206	5	1	55	1	0	0	0	0	0	0	1	0	7005	695	24	5	700	5	HDAC10	22	50686206	Splice_Site	SNP	C	TCGA-BR-7851-01A-11D-2201-08	25198	50686206	618360	1750	43098											
MAPK12	6300	broad.mit.edu	37	chr22	50693747	50693747	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccagcgcctcgcctgcCgtcacccgctgctccgcgtc	12	20	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:50693747C>T	uc003bkm.1	-	11	1054	c.903G>A	c.(901-903)ACG>ACA	p.T301T	MAPK12_uc003bkn.2_Silent_p.T120T|MAPK12_uc003bko.2_Silent_p.T211T|MAPK12_uc003bkl.1_Silent_p.T291T|MAPK12_uc003bkp.2_Silent_p.T86T|MAPK12_uc003bkq.2_Silent_p.T120T	NM_002969	NP_002960	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	301	Protein kinase.				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCGCCTGCCGTCACCCGCT	0.637													T	50693747	C	T	50693747	2	4	55	1	0	0	0	0	0	0	0	1	9274	639	23	1		1	MAPK12	22	50693747	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	7541	50693747	610819	1751	43099											
PLXNB2	23654	broad.mit.edu	37	chr22	50716356	50716356	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctgctcgtccaggaagtcGaagaagtacttgactgcagg	13	10	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:50716356G>A	uc003bkv.3	-	32	5080	c.4974C>T	c.(4972-4974)TTC>TTT	p.F1658F	PLXNB2_uc003bkt.1_Silent_p.F450F|PLXNB2_uc003bku.1_Silent_p.F643F	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1658	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCAGGAAGTCGAAGAAGTACT	0.607													A	50716356	G	A	50716356	2	1	55	1	0	0	0	0	0	0	0	1	12124	1049	37	1		1	PLXNB2	22	50716356	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	22609	50716356	588210	1752	43100											
PLXNB2	23654	broad.mit.edu	37	chr22	50718147	50718147	+	Frame_Shift_Del	DEL	T	T	-													gtaccgcatccaccgggcccTtttccacctgatgtttgatg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:50718146_50718146CT>C	uc003bkv.4	-	26	4395	c.4302_4302AG>G	c.(4300-4302)aagfs	p.K1434fs	PLXNB2_uc003bkt.1_Frame_Shift_Del_p.K226fs|PLXNB2_uc003bku.1_Frame_Shift_Del_p.K419fs	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1434					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACCGGGCCCTTTTCCACCT	0.602													-	50718147	T	-	50718147	7	5	55	1	0	1	0	1	0	0	0	0	12124	1609	56	0	1259	0	PLXNB2	22	50718147	Frame_Shift_Del	DEL	T	TCGA-BR-7851-01A-11D-2201-08	1791	50718147	586419	1753	43101											
PLXNB2	23654	broad.mit.edu	37	chr22	50719833	50719833	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgacgaccaccatgggcacGatgaccagcggcaagatgag	13	11	0	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:50719833G>A	uc003bkv.3	-	22	3724	c.3618C>T	c.(3616-3618)ATC>ATT	p.I1206I	PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Silent_p.I191I	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1206	Helical; (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCATGGGCACGATGACCAGCG	0.677													A	50719833	G	A	50719833	2	1	55	1	0	0	0	0	0	0	0	1	12124	1048	37	1		1	PLXNB2	22	50719833	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1686	50719833	584733	1754	43102											
SBF1	6305	broad.mit.edu	37	chr22	50885653	50885653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcacagaagttgtaaacgCgacgcgttgtcttcacctgg	13	10	2	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:50885653C>T	uc003blh.2	-	41	5795	c.5600G>A	c.(5599-5601)CGC>CAC	p.R1867H	SBF1_uc003ble.2_Missense_Mutation_p.R331H|SBF1_uc003blf.2_Missense_Mutation_p.R343H|SBF1_uc011arx.1_Missense_Mutation_p.R1505H	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1841	PH.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GTTGTAAACGCGACGCGTTGT	0.687													T	50885653	C	T	50885653	3	4	55	1	0	0	0	0	1	0	0	0	13858	768	27	1	85	1	SBF1	22	50885653	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	165820	50885653	418913	1755	43103											
ARSA	410	broad.mit.edu	37	chr22	51063611	51063611	+	Frame_Shift_Del	DEL	G	G	-													gcaatggcagcaagctgggcGgggggtgcagccaggatgac							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:51063611delG	uc003bnb.3	-	9	1739	c.1486delC	c.(1486-1488)CGCfs	p.R496fs	ARSA_uc003bna.3_Frame_Shift_Del_p.R412fs|ARSA_uc003bnc.3_Frame_Shift_Del_p.R496fs|ARSA_uc003bnd.3_Frame_Shift_Del_p.R496fs|ARSA_uc003bmz.3_Frame_Shift_Del_p.R496fs	NM_001085426	NP_001078895	P15289	ARSA_HUMAN	arylsulfatase A isoform a precursor	496						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			pancreas(1)|skin(1)	2		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CAAGCTGGGCGGGGGGTGCAG	0.692													-	51063611	G	-	51063611	7	5	55	1	0	1	0	1	0	0	0	0	987	1116	39	0	41	0	ARSA	22	51063611	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	177958	51063611	240955	1756	43104											
PLCXD1	55344	broad.mit.edu	37	chrX	215873	215873	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaccttccgcggctgagCgcgtgggtccgagagcagtg	15	14	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:215873C>T	uc004cpc.2	+	7	1155	c.843C>T	c.(841-843)AGC>AGT	p.S281S	PLCXD1_uc011mgx.1_RNA	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X	281					intracellular signal transduction|lipid metabolic process		phospholipase C activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGCGGCTGAGCGCGTGGGTCC	0.657													T	215873	C	T	215873	2	4	55	1	0	0	0	0	0	0	0	1	12041	767	27	1		1	PLCXD1	23	215873	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08		215873	155054687	1757	43105											
SHROOM2	357	broad.mit.edu	37	chrX	9862480	9862480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcagctccttggggagcGttgacagcctggaccacccc	11	15	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:9862480G>A	uc004csu.1	+	4	622	c.532G>A	c.(532-534)GTT>ATT	p.V178I		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	178					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				CTTGGGGAGCGTTGACAGCCT	0.602													A	9862480	G	A	9862480	3	1	55	1	0	0	0	0	1	0	0	0	14294	1145	40	1	546	1	SHROOM2	23	9862480	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	9646607	9862480	145408080	1758	43106											
CLCN4	1183	broad.mit.edu	37	chrX	10166025	10166025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaatgtacatcctatgggCgctgctgtttgcatttttgg	10	8	0	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:10166025C>T	uc004csy.3	+	6	909	c.479C>T	c.(478-480)GCG>GTG	p.A160V	CLCN4_uc011mid.1_Missense_Mutation_p.A66V	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	160	Helical; (By similarity).					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						ATCCTATGGGCGCTGCTGTTT	0.468													T	10166025	C	T	10166025	3	4	55	1	0	0	0	0	1	0	0	0	3465	768	27	1	493	1	CLCN4	23	10166025	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	303545	10166025	145104535	1759	43107											
MID1	4281	broad.mit.edu	37	chrX	10437743	10437743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgagatactcactaacgaCgttggcttgtccggtgaata	10	9	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:10437743C>T	uc004cte.3	-	7	1470	c.1279G>A	c.(1279-1281)GTC>ATC	p.V427I	MID1_uc004ctd.3_Missense_Mutation_p.V138I|MID1_uc004ctg.3_Missense_Mutation_p.V427I|MID1_uc004cth.3_Missense_Mutation_p.V389I|MID1_uc004ctk.3_Missense_Mutation_p.V427I|MID1_uc004cti.3_Missense_Mutation_p.V427I|MID1_uc004ctj.3_Missense_Mutation_p.V427I|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Missense_Mutation_p.V478I|MID1_uc004ctn.1_Missense_Mutation_p.V427I|MID1_uc004cto.1_Missense_Mutation_p.V389I|MID1_uc004csz.3_Missense_Mutation_p.V99I|MID1_uc004cta.3_Missense_Mutation_p.V183I|MID1_uc004ctb.3_Missense_Mutation_p.V87I|MID1_uc004ctc.3_Missense_Mutation_p.V194I|MID1_uc004ctl.1_Missense_Mutation_p.V183I	NM_033290	NP_150632	O15344	TRI18_HUMAN	midline 1	427	Fibronectin type-III.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|pancreas(1)	3						TCACTAACGACGTTGGCTTGT	0.443													T	10437743	C	T	10437743	3	4	55	1	0	0	0	0	1	0	0	0	9576	536	19	1	740	1	MID1	23	10437743	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	271718	10437743	144832817	1760	43108											
MOSPD2	158747	broad.mit.edu	37	chrX	14933801	14933801	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tataaataggtgagaacaacAgctccagaaaaatacagagt	8	6	0	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:14933801A>G	uc004cwi.2	+	12	1189	c.1101A>G	c.(1099-1101)ACA>ACG	p.T367T	MOSPD2_uc004cwj.2_Silent_p.T304T	NM_152581	NP_689794	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	367	MSP.					integral to membrane	structural molecule activity			lung(1)	1	Hepatocellular(33;0.183)					TGAGAACAACAGCTCCAGAAA	0.393													G	14933801	A	G	14933801	2	3	55	1	0	0	0	0	0	0	0	1	9716	175	7	3		3	MOSPD2	23	14933801	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	4496058	14933801	140336759	1761	43109											
FAM47C	442444	broad.mit.edu	37	chrX	37028265	37028265	+	Frame_Shift_Del	DEL	C	C	-													aagactcgggtgtccagtctCcccccggagccccccgagac							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:37028264_37028264TC>T	uc004ddl.2	+	0	1833	c.1781_1781TC>T	c.(1780-1782)ctcfs	p.L594fs		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	594										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTGTCCAGTCTCCCCCCGGAG	0.647													-	37028265	C	-	37028265	7	5	55	1	0	1	0	1	0	0	0	0	5571	842	30	0	1784	0	FAM47C	23	37028265	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	22094464	37028265	118242295	1762	43110											
USP9X	8239	broad.mit.edu	37	chrX	41027442	41027442	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtgacagtgattatcaTgaggaaagaacaattctccc	9	7	2	4			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:41027442T>C	uc004dfb.2	+	18	3240	c.2607T>C	c.(2605-2607)CAT>CAC	p.H869H	USP9X_uc004dfc.2_Silent_p.H869H	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	869					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						GTGATTATCATGAGGAAAGAA	0.333													C	41027442	T	C	41027442	2	2	55	1	0	0	0	0	0	0	0	1	17087	1461	51	3		3	USP9X	23	41027442	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	3999177	41027442	114243118	1763	43111											
CFP	5199	broad.mit.edu	37	chrX	47485906	47485906	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccactccccccacgagtccCactccccatccactgcagag	5	22	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:47485906C>T	uc004dig.3	-	7	1079	c.953G>A	c.(952-954)TGG>TAG	p.W318*	CFP_uc004dih.2_Nonsense_Mutation_p.W318*|CFP_uc004dii.1_Nonsense_Mutation_p.W254*|CFP_uc010nhu.2_Nonsense_Mutation_p.W318*	NM_001145252	NP_001138724	P27918	PROP_HUMAN	complement factor properdin precursor	318	TSP type-1 5.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(2)|lung(1)	3						CCACGAGTCCCACTCCCCATC	0.607													T	47485906	C	T	47485906	4	4	55	1	0	0	0	0	0	1	0	0	3293	595	21	4	468	4	CFP	23	47485906	Nonsense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	6458464	47485906	107784654	1764	43112											
CACNA1F	778	broad.mit.edu	37	chrX	49066409	49066409	+	Frame_Shift_Del	DEL	G	G	-													gggatagctcaccgtctggtGgggggatgacctcatctagc							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:49066409delG	uc004dnb.2	-	40	4777	c.4715delC	c.(4714-4716)CCAfs	p.P1572fs	CACNA1F_uc010nip.2_Frame_Shift_Del_p.P1561fs	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1572	Cytoplasmic (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	ACCGTCTGGTGGGGGGATGAC	0.597													-	49066409	G	-	49066409	7	5	55	1	0	1	0	1	0	0	0	0	2543	1348	47	0	1254	0	CACNA1F	23	49066409	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	1580503	49066409	106204151	1765	43113											
FGD1	2245	broad.mit.edu	37	chrX	54473854	54473854	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgcaggaagctgcagaTgacgctgttctctgcagcca	13	10	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:54473854T>C	uc004dtg.2	-	17	3204	c.2470A>G	c.(2470-2472)ATC>GTC	p.I824V		NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	824	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						AAGCTGCAGATGACGCTGTTC	0.532													C	54473854	T	C	54473854	3	2	55	1	0	0	0	0	1	0	0	0	5832	1464	51	3	423	3	FGD1	23	54473854	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	5407445	54473854	100796706	1766	43114											
ITIH5L	347365	broad.mit.edu	37	chrX	54776440	54776440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgagtccttcagcagcCtcttgcctagaatcacaggc	10	12	3	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:54776440C>T	uc004dtj.2	-	13	3860	c.3830G>A	c.(3829-3831)AGG>AAG	p.R1277K		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	1277					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						CTTCAGCAGCCTCTTGCCTAG	0.612													T	54776440	C	T	54776440	3	4	55	1	0	0	0	0	1	0	0	0	7908	681	24	4	115	4	ITIH5L	23	54776440	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	302586	54776440	100494120	1767	43115											
AWAT2	158835	broad.mit.edu	37	chrX	69261775	69261775	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttagccacgatctcctggctTggattctcaatcttgggcat	9	11	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:69261775T>A	uc004dxt.1	-	7	891	c.885A>T	c.(883-885)CCA>CCT	p.P295P		NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN	wax synthase 2	295						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity				0						TCTCCTGGCTTGGATTCTCAA	0.478													A	69261775	T	A	69261775	2	1	55	1	0	0	0	0	0	0	0	1	1235	1799	63	5		5	AWAT2	23	69261775	Silent	SNP	T	TCGA-BR-7851-01A-11D-2201-08	14485335	69261775	86008785	1768	43116											
P2RY4	5030	broad.mit.edu	37	chrX	69478728	69478728	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagcaaagacagtcagcacCacagctatggtgcggagaga	12	10	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:69478728C>A	uc004dxz.1	-	1	927	c.747G>T	c.(745-747)GTG>GTT	p.V249V		NM_002565	NP_002556	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y4	249	Helical; Name=6; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)	1						CAGTCAGCACCACAGCTATGG	0.562													A	69478728	C	A	69478728	2	1	55	1	0	0	0	0	0	0	0	1	11353	581	21	5		5	P2RY4	23	69478728	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	216953	69478728	85791832	1769	43117											
TAF1	6872	broad.mit.edu	37	chrX	70598812	70598812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaagggacaaaacctcagCgtgcaagcctggcaggctgg	13	11	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:70598812C>T	uc004dzu.3	+	8	1339	c.1288C>T	c.(1288-1290)CGT>TGT	p.R430C	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R451C	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	430					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				AAAACCTCAGCGTGCAAGCCT	0.507													T	70598812	C	T	70598812	3	4	55	1	0	0	0	0	1	0	0	0	15510	768	27	1	1381	1	TAF1	23	70598812	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1120084	70598812	84671748	1770	43118											
TAF1	6872	broad.mit.edu	37	chrX	70618466	70618466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaacatcgggaagagatgcGaaaagaacggcggaggattc	14	7	0	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:70618466G>A	uc004dzu.3	+	24	3713	c.3662G>A	c.(3661-3663)CGA>CAA	p.R1221Q	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R1242Q|TAF1_uc004dzv.3_Missense_Mutation_p.R395Q	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1221	HMG box.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				GAAGAGATGCGAAAAGAACGG	0.458													A	70618466	G	A	70618466	3	1	55	1	0	0	0	0	1	0	0	0	15510	1058	37	1	3819	1	TAF1	23	70618466	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	19654	70618466	84652094	1771	43119											
TAF1	6872	broad.mit.edu	37	chrX	70680578	70680578	+	Frame_Shift_Del	DEL	A	A	-													gaacacaaggatggacatggAaaatgaagaaagcatgatgt							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:70680578delA	uc004dzu.3	+	37	5372	c.5321delA	c.(5320-5322)GAAfs	p.E1774fs	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Frame_Shift_Del_p.E1795fs|TAF1_uc004dzv.3_Frame_Shift_Del_p.E982fs|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_Frame_Shift_Del_p.E199fs|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA|TAF1_uc004dzw.1_RNA|TAF1_uc010nlg.1_RNA	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1774	Asp/Glu-rich (acidic tail).|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				ATGGACATGGAAAATGAAGAA	0.493													-	70680578	A	-	70680578	7	5	55	1	0	1	0	1	0	0	0	0	15510	246	9	0	5530	0	TAF1	23	70680578	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08	62112	70680578	84589982	1772	43120											
HNRNPH2	3188	broad.mit.edu	37	chrX	100667857	100667857	+	Frame_Shift_Del	DEL	G	G	-													agggcactgtgtacacatgaGggggttaccttacagagcca							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:100667857delG	uc004ehm.2	+	2	1051	c.881delG	c.(880-882)AGGfs	p.R294fs	HNRNPH2_uc004ehn.2_Frame_Shift_Del_p.R294fs	NM_019597	NP_062543	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2	294	RRM 3.|2 X 16 AA Gly-rich approximate repeats.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						GTACACATGAGGGGGTTACCT	0.438													-	100667857	G	-	100667857	7	5	55	1	0	1	0	1	0	0	0	0	7267	1000	35	0	883	0	HNRNPH2	23	100667857	Frame_Shift_Del	DEL	G	TCGA-BR-7851-01A-11D-2201-08	29987279	100667857	54602703	1773	43121											
COL4A5	1287	broad.mit.edu	37	chrX	107925066	107925066	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcctccaggaatccctggCcagcctgggctaaagggtct	13	13	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:107925066C>T	uc004enz.1	+	46	4366	c.4164C>T	c.(4162-4164)GGC>GGT	p.G1388G	COL4A5_uc011mso.1_Silent_p.G1385G|COL4A5_uc011msp.1_Silent_p.G64G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1382	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						GAATCCCTGGCCAGCCTGGGC	0.423									Alport_syndrome_with_Diffuse_Leiomyomatosis				T	107925066	C	T	107925066	2	4	55	1	0	0	0	0	0	0	0	1	3694	726	26	2		2	COL4A5	23	107925066	Silent	SNP	C	TCGA-BR-7851-01A-11D-2201-08	7257209	107925066	47345494	1774	43122											
CHRDL1	91851	broad.mit.edu	37	chrX	109924819	109924819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatacagactcatacacaggCatcgtttcttccccgcagaa	6	13	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:109924819C>T	uc004eou.3	-	10	1396	c.1047G>A	c.(1045-1047)ATG>ATA	p.M349I	CHRDL1_uc004eov.2_Missense_Mutation_p.M338I|CHRDL1_uc004eow.2_Missense_Mutation_p.M347I|CHRDL1_uc010nps.2_Missense_Mutation_p.M348I|CHRDL1_uc004eot.2_Missense_Mutation_p.M268I|CHRDL1_uc011mss.1_Missense_Mutation_p.M263I	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	341					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0						CATACACAGGCATCGTTTCTT	0.453													T	109924819	C	T	109924819	3	4	55	1	0	0	0	0	1	0	0	0	3373	710	25	2	341	2	CHRDL1	23	109924819	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	1999753	109924819	45345741	1775	43123											
ALG13	79868	broad.mit.edu	37	chrX	110928333	110928333	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctattgtacctgcaggTatgctagagactgattatta	8	7	2	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:110928333T>C	uc011msy.1	+	3	417	c.383_splice	c.e3+2	p.R128_splice	ALG13_uc004epi.1_Splice_Site_p.S128_splice|ALG13_uc011msw.1_Splice_Site_p.R50_splice|ALG13_uc011msx.1_Splice_Site_p.R24_splice|ALG13_uc011msz.1_Splice_Site_p.R50_splice|ALG13_uc011mta.1_Splice_Site_p.R24_splice|ALG13_uc011mtb.1_Splice_Site_p.R24_splice			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);						dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1						TACCTGCAGGTATGCTAGAGA	0.423													C	110928333	T	C	110928333	5	2	55	1	0	0	0	0	0	0	1	0	515	1652	57	3	395	3	ALG13	23	110928333	Splice_Site	SNP	T	TCGA-BR-7851-01A-11D-2201-08	1003514	110928333	44342227	1776	43124											
LUZP4	51213	broad.mit.edu	37	chrX	114541133	114541133	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaagagatctcgtagccagGgagatcttgtggacactcag	12	9	3	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:114541133G>T	uc004eqa.2	+	4	740	c.706G>T	c.(706-708)GGA>TGA	p.G236*	LUZP4_uc004eqb.2_Nonsense_Mutation_p.G154*	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	236						nucleus				ovary(2)	2						TCGTAGCCAGGGAGATCTTGT	0.483													T	114541133	G	T	114541133	4	4	55	1	0	0	0	0	0	1	0	0	9088	1233	43	5	720	5	LUZP4	23	114541133	Nonsense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	3612800	114541133	40729427	1777	43125											
IL13RA1	3597	broad.mit.edu	37	chrX	117910472	117910472	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gagaccagaatgatgatactCtggtaagaacagatttcatg	10	6	2	6			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:117910472C>G	uc004eqs.2	+	10	1232	c.1189C>G	c.(1189-1191)CTG>GTG	p.L397V	IL13RA1_uc004eqt.1_Missense_Mutation_p.L397V	NM_001560	NP_001551	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1 precursor	397	Cytoplasmic (Potential).					interleukin-13 receptor complex	cytokine receptor activity				0						TGATGATACTCTGGTAAGAAC	0.279													G	117910472	C	G	117910472	3	3	55	1	0	0	0	0	1	0	0	0	7629	912	32	5	1227	5	IL13RA1	23	117910472	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	3369339	117910472	37360088	1778	43126											
ZCCHC12	170261	broad.mit.edu	37	chrX	117959502	117959502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgcccgcgaggtcatgCgtgtgcttcaggcgaccaac	13	15	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:117959502C>T	uc004equ.2	+	4	768	c.295C>T	c.(295-297)CGT>TGT	p.R99C		NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			ovary(1)	1						cgaggtcatgcgtgtgcttca	0													T	117959502	C	T	117959502	3	4	55	1	0	0	0	0	1	0	0	0	17578	768	27	1	297	1	ZCCHC12	23	117959502	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	49030	117959502	37311058	1779	43127											
ANKRD58	347454	broad.mit.edu	37	chrX	118893547	118893547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaatgcatagccttttccGccatctgttcccctcattcc	5	16	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:118893547G>A	uc010nql.2	+	1	972	c.917G>A	c.(916-918)CGC>CAC	p.R306H		NM_001105576	NP_001099046	A6NJG2	ANR58_HUMAN	ankyrin repeat domain 58	306											0						AGCCTTTTCCGCCATCTGTTC	0.637													A	118893547	G	A	118893547	3	1	55	1	0	0	0	0	1	0	0	0	684	1087	38	1	919	1	ANKRD58	23	118893547	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	934045	118893547	36377013	1780	43128											
STAG2	10735	broad.mit.edu	37	chrX	123205131	123205131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttgctcagctttattttgGatcatgtcttcattgaacag	8	7	4	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:123205131G>A	uc004etz.3	+	24	2830	c.2491G>A	c.(2491-2493)GAT>AAT	p.D831N	STAG2_uc004eua.2_Missense_Mutation_p.D831N|STAG2_uc004eub.2_Missense_Mutation_p.D831N|STAG2_uc004euc.2_Missense_Mutation_p.D831N|STAG2_uc004eud.2_Missense_Mutation_p.D831N|STAG2_uc004eue.2_Missense_Mutation_p.D831N	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	831					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						CTTTATTTTGGATCATGTCTT	0.368													A	123205131	G	A	123205131	3	1	55	1	0	0	0	0	1	0	0	0	15242	1174	41	4	2581	4	STAG2	23	123205131	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	4311584	123205131	32065429	1781	43129											
BCORL1	63035	broad.mit.edu	37	chrX	129190011	129190011	+	Frame_Shift_Del	DEL	C	C	-													tggaggcttggacgacagatCccccccaggctcctctgaga							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:129190010_129190010TC>T	uc022cdu.1	+	11	5079	c.5035_5035TC>T	c.(5035-5037)tccfs	p.S1679fs	BCORL1_uc004evc.2_Frame_Shift_Del_p.S515fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1679					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGACGACAGATCCCCCCCAGG	0.607													-	129190011	C	-	129190011	7	5	55	1	0	1	0	1	0	0	0	0	1387	855	30	0	5308	0	BCORL1	23	129190011	Frame_Shift_Del	DEL	C	TCGA-BR-7851-01A-11D-2201-08	5984880	129190011	26080549	1782	43130											
ELF4	2000	broad.mit.edu	37	chrX	129215258	129215258	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatcatcatccatcccgttgCttgcgaactcaaagatcagg	7	12	4	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:129215258C>A	uc004evd.3	-	2	432	c.47G>T	c.(46-48)AGC>ATC	p.S16I	ELF4_uc004eve.3_Missense_Mutation_p.S16I	NM_001421	NP_001412	Q99607	ELF4_HUMAN	E74-like factor 4	16					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CATCCCGTTGCTTGCGAACTC	0.522			T	ERG	AML								A	129215258	C	A	129215258	3	1	55	1	0	0	0	0	1	0	0	0	5056	797	28	5	1976	5	ELF4	23	129215258	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	25247	129215258	26055302	1783	43131											
ZNF280C	55609	broad.mit.edu	37	chrX	129380891	129380891	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagatcagttcatcgtcatcCtcatcctgagtttcttctac	5	12	6	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:129380891C>A	uc004evm.2	-	3	274	c.120G>T	c.(118-120)GAG>GAT	p.E40D	ZNF280C_uc010nrf.1_Missense_Mutation_p.E40D	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3						CATCGTCATCCTCATCCTGAG	0.368													A	129380891	C	A	129380891	3	1	55	1	0	0	0	0	1	0	0	0	17813	680	24	5	2161	5	ZNF280C	23	129380891	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	165633	129380891	25889669	1784	43132											
SAGE1	55511	broad.mit.edu	37	chrX	134989590	134989590	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgacagcaactggtattccGggcatgaataccagggatca	11	9	1	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:134989590G>T	uc004ezh.2	+	9	1163	c.996G>T	c.(994-996)CCG>CCT	p.P332P	SAGE1_uc010nry.1_Silent_p.P301P|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	332										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					CTGGTATTCCGGGCATGAATA	0.393													T	134989590	G	T	134989590	2	4	55	1	0	0	0	0	0	0	0	1	13809	1103	39	5		5	SAGE1	23	134989590	Silent	SNP	G	TCGA-BR-7851-01A-11D-2201-08	5608699	134989590	20280970	1785	43133											
LDOC1	23641	broad.mit.edu	37	chrX	140271029	140271029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcggggagccgggagctctCgccattaaacgtttcgggga	15	11	1	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:140271029C>T	uc004fbj.2	-	1	282	c.178G>A	c.(178-180)GAG>AAG	p.E60K		NM_012317	NP_036449	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	60					negative regulation of cell proliferation	nucleus	protein binding				0	Acute lymphoblastic leukemia(192;7.65e-05)					CGGGAGCTCTCGCCATTAAAC	0.612													T	140271029	C	T	140271029	3	4	55	1	0	0	0	0	1	0	0	0	8709	893	31	1	266	1	LDOC1	23	140271029	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	5281439	140271029	14999531	1786	43134											
SLITRK4	139065	broad.mit.edu	37	chrX	142718541	142718541	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tactccaagttctctatgccAaggaaagtgtcagctcggag	10	10	2	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:142718541A>T	uc004fbx.2	-	2	760	c.384T>A	c.(382-384)CTT>CTA	p.L128L	SLITRK4_uc004fby.2_Silent_p.L128L	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	128	Extracellular (Potential).|LRR 3.					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCTATGCCAAGGAAAGTGT	0.418													T	142718541	A	T	142718541	2	4	55	1	0	0	0	0	0	0	0	1	14745	117	5	5		5	SLITRK4	23	142718541	Silent	SNP	A	TCGA-BR-7851-01A-11D-2201-08	2447512	142718541	12552019	1787	43135											
AFF2	2334	broad.mit.edu	37	chrX	147891442	147891442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgttgaagaaatcttgCgggtgagtttaaacctttat	11	5	1	3			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:147891442C>T	uc004fcp.2	+	4	1563	c.1084C>T	c.(1084-1086)CGG>TGG	p.R362W	AFF2_uc004fco.2_Missense_Mutation_p.R358W|AFF2_uc004fcq.2_Missense_Mutation_p.R358W|AFF2_uc004fcr.2_Missense_Mutation_p.R358W|AFF2_uc011mxb.1_Missense_Mutation_p.R362W|AFF2_uc004fcs.2_Missense_Mutation_p.R358W|AFF2_uc011mxc.1_Missense_Mutation_p.R32W	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	362					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAATCTTGCGGGTGAGTTT	0.333													T	147891442	C	T	147891442	3	4	55	1	0	0	0	0	1	0	0	0	357	759	27	1	1153	1	AFF2	23	147891442	Missense_Mutation	SNP	C	TCGA-BR-7851-01A-11D-2201-08	5172901	147891442	7379118	1788	43136											
GPR50	9248	broad.mit.edu	37	chrX	150349428	150349428	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatttcaagggtgactctgTccatttcaagcctgactctg	8	12	4	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:150349428T>C	uc010ntg.1	+	2	1508	c.1373T>C	c.(1372-1374)GTC>GCC	p.V458A		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	458	Cytoplasmic (Potential).|Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGACTCTGTCCATTTCAAG	0.552													C	150349428	T	C	150349428	3	2	55	1	0	0	0	0	1	0	0	0	6697	1667	58	3	1379	3	GPR50	23	150349428	Missense_Mutation	SNP	T	TCGA-BR-7851-01A-11D-2201-08	2457986	150349428	4921132	1789	43137											
GABRQ	55879	broad.mit.edu	37	chrX	151821314	151821314	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaccgtgtcgaagcccatgGccatggtgttacccatgacc	10	14	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:151821314G>T	uc004ffp.1	+	9	1489	c.1469G>T	c.(1468-1470)GGC>GTC	p.G490V		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	490						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGCCCATGGCCATGGTGTT	0.547													T	151821314	G	T	151821314	3	4	55	1	0	0	0	0	1	0	0	0	6175	1203	42	5	1503	5	GABRQ	23	151821314	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1471886	151821314	3449246	1790	43138											
PDZD4	57595	broad.mit.edu	37	chrX	153071027	153071027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggctcaggatggccaccGcctcttcccggttctggacg	12	16	3	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:153071027G>A	uc004fiz.1	-	6	834	c.584C>T	c.(583-585)GCG>GTG	p.A195V	PDZD4_uc004fiy.1_Missense_Mutation_p.A120V|PDZD4_uc004fix.2_Missense_Mutation_p.A99V|PDZD4_uc004fja.1_Missense_Mutation_p.A201V|PDZD4_uc011mze.1_Missense_Mutation_p.A86V	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	195	PDZ.					cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GATGGCCACCGCCTCTTCCCG	0.632													A	153071027	G	A	153071027	3	1	55	1	0	0	0	0	1	0	0	0	11703	1087	38	1	1737	1	PDZD4	23	153071027	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1249713	153071027	2199533	1791	43139											
RPL10	6134	broad.mit.edu	37	chrX	153627879	153627879	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaggcaaaagtggatgAgtttccgctttgtggccaca	12	7	0	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:153627879A>G	uc004fkm.2	+	4	322	c.134A>G	c.(133-135)GAG>GGG	p.E45G	uc010nuv.1_5'Flank|RPL10_uc004fko.2_Missense_Mutation_p.E45G|RPL10_uc004fkn.1_Missense_Mutation_p.E45G|RPL10_uc004fkp.1_Missense_Mutation_p.E45G|RPL10_uc004fkq.1_RNA|RPL10_uc004fkr.1_5'Flank|SNORA70_uc010nux.1_5'Flank	NM_006013	NP_006004	P27635	RL10_HUMAN	ribosomal protein L10	45					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAAGTGGATGAGTTTCCGCTT	0.522											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	153627879	A	G	153627879	3	3	55	1	0	0	0	0	1	0	0	0	13554	304	11	3	144	3	RPL10	23	153627879	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	556852	153627879	1642681	1792	43140											
SPRY3	10251	broad.mit.edu	37	chrX	155004072	155004072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctttgctctgctgagaGcctcctcgattatggcactt	9	13	1	1			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:155004072G>A	uc004fnq.1	+	2	993	c.539G>A	c.(538-540)AGC>AAC	p.S180N	SPRY3_uc010nvl.1_Intron	NM_005840	NP_005831	O43610	SPY3_HUMAN	sprouty homolog 3	180	SPR.|Cys-rich.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane					0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTGCTGAGAGCCTCCTCGAT	0.582													A	155004072	G	A	155004072	3	1	55	1	0	0	0	0	1	0	0	0	15106	971	34	2	541	2	SPRY3	23	155004072	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1376193	155004072	266488	1793	43141											
VAMP7	6845	broad.mit.edu	37	chrX	155169446	155169446	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctcactattatcatcatcAtcgtatcaattgtaagtttt	4	8	5	0			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:155169446A>G	uc004fnr.2	+	7	757	c.583A>G	c.(583-585)ATC>GTC	p.I195V	VAMP7_uc004fnt.2_Missense_Mutation_p.I154V|VAMP7_uc011naa.1_Missense_Mutation_p.I156V|VAMP7_uc011nab.1_Missense_Mutation_p.I94V|VAMP7_uc004fns.2_Missense_Mutation_p.H172R|VAMP7_uc011nac.1_Missense_Mutation_p.I128V	NM_005638	NP_005629	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7 isoform 1	195	Helical; Anchor for type IV membrane protein; (Potential).				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TATCATCATCATCGTATCAAT	0.348													G	155169446	A	G	155169446	3	3	55	1	0	0	0	0	1	0	0	0	17114	217	8	3	605	3	VAMP7	23	155169446	Missense_Mutation	SNP	A	TCGA-BR-7851-01A-11D-2201-08	165374	155169446	101114	1794	43142											
UTY	7404	broad.mit.edu	37	chrY	15411007	15411007	+	Frame_Shift_Del	DEL	A	A	-													tgggccaccaagaactcattAaaaaattcaaattatttctg							TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrY:15411007delA	uc004fsx.1	-	24	4412	c.3407delT	c.(3406-3408)TTAfs	p.L1136fs	UTY_uc004fsw.1_Frame_Shift_Del_p.L799fs|UTY_uc010nwx.1_Frame_Shift_Del_p.L193fs|UTY_uc004fsy.2_Frame_Shift_Del_p.L1136fs	NM_007125	NP_009056	O14607	UTY_HUMAN	tetratricopeptide repeat protein isoform 3	1136	JmjC.				chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						AGAACTCATTAAAAAATTCAA	0.299													-	15411007	A	-	15411007	7	5	55	1	0	1	0	1	0	0	0	0	17104	372	13	0	660	0	UTY	24	15411007	Frame_Shift_Del	DEL	A	TCGA-BR-7851-01A-11D-2201-08		15411007	43962559	1795	43143											
NLGN4Y	22829	broad.mit.edu	37	chrY	16942305	16942305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcggcatccccatgatcGgtcccacagagctcttcagt	8	15	3	2			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrY:16942305G>A	uc004ftg.2	+	5	1759	c.1507G>A	c.(1507-1509)GGT>AGT	p.G503S	NLGN4Y_uc004fte.2_Missense_Mutation_p.G335S|NLGN4Y_uc011nas.1_Missense_Mutation_p.G523S|NLGN4Y_uc004ftf.2_Missense_Mutation_p.G196S|NLGN4Y_uc004fth.2_Missense_Mutation_p.G503S	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked isoform 1	503	Extracellular (Potential).				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity				0						CCCCATGATCGGTCCCACAGA	0.527													A	16942305	G	A	16942305	3	1	55	1	0	0	0	0	1	0	0	0	10465	1116	39	1	1675	1	NLGN4Y	24	16942305	Missense_Mutation	SNP	G	TCGA-BR-7851-01A-11D-2201-08	1531298	16942305	42431261	1796	43144											
AJAP1	55966	broad.mit.edu	37	chr1	4832465	4832465	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcctggacatattcaCggcctataacgagaccctgc	9	14	1	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:4832465C>A	uc001alm.1	+	4	1424	c.1043C>A	c.(1042-1044)ACG>AAG	p.T348K	AJAP1_uc001aln.2_Missense_Mutation_p.T348K	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	348	Targeting signals.|Cytoplasmic (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GACATATTCACGGCCTATAAC	0.617													A	4832465	C	A	4832465	3	1	56	1	0	0	0	0	1	0	0	0	438	536	19	5	1057	5	AJAP1	1	4832465	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08		4832465	244418156	1	43145											
PER3	8863	broad.mit.edu	37	chr1	7879395	7879395	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaacactgaaaaacaatagtGtgtacactgagccctgtgag	9	8	0	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:7879395G>T	uc001aoo.2	+	13	1724	c.1549G>T	c.(1549-1551)GTG>TTG	p.V517L	PER3_uc009vmg.1_Missense_Mutation_p.V525L|PER3_uc009vmh.1_Missense_Mutation_p.V518L|PER3_uc001aop.2_Missense_Mutation_p.V525L|PER3_uc010nzw.1_Missense_Mutation_p.V206L	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	517	CSNK1E binding domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		AAACAATAGTGTGTACACTGA	0.423													T	7879395	G	T	7879395	3	4	56	1	0	0	0	0	1	0	0	0	11731	1377	48	5	1599	5	PER3	1	7879395	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	3046930	7879395	241371226	2	43146											
PEX14	5195	broad.mit.edu	37	chr1	10687392	10687392	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgaactcaagtccgaaattAactccttgaaagggcttctt	7	10	2	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:10687392A>G	uc001arn.2	+	8	670	c.649A>G	c.(649-651)AAC>GAC	p.N217D	PEX14_uc009vmv.2_Missense_Mutation_p.N153D|PEX14_uc010oam.1_Missense_Mutation_p.N153D|PEX14_uc010oan.1_Missense_Mutation_p.N174D|PEX14_uc009vmw.2_Missense_Mutation_p.N153D	NM_004565	NP_004556	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	217					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(1)	1	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GTCCGAAATTAACTCCTTGAA	0.567													G	10687392	A	G	10687392	3	3	56	1	0	0	0	0	1	0	0	0	11742	362	13	3	679	3	PEX14	1	10687392	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	2807997	10687392	238563229	3	43147											
SPEN	23013	broad.mit.edu	37	chr1	16248837	16248837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttttatgaaatgttagccGaaagaaggtatgtattttaa	8	3	0	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:16248837G>A	uc001axk.1	+	10	2047	c.1843G>A	c.(1843-1845)GAA>AAA	p.E615K	SPEN_uc010obp.1_Missense_Mutation_p.E574K	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	615					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AATGTTAGCCGAAAGAAGGTA	0.234													A	16248837	G	A	16248837	3	1	56	1	0	0	0	0	1	0	0	0	15037	1059	37	1	1881	1	SPEN	1	16248837	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	5561445	16248837	233001784	4	43148											
RAP1GAP	5909	broad.mit.edu	37	chr1	21929359	21929359	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcggcgggagccgaaCgggcccgacttcttcctcgt	14	15	1	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:21929359C>T	uc001bex.2	-	19	1734	c.1476G>A	c.(1474-1476)CCG>CCA	p.P492P	RAP1GAP_uc001bev.2_Silent_p.P577P|RAP1GAP_uc001bew.2_Silent_p.P556P|RAP1GAP_uc001bey.2_Silent_p.P518P	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform c	492					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGGAGCCGAACGGGCCCGACT	0.642													T	21929359	C	T	21929359	2	4	56	1	0	0	0	0	0	0	0	1	13037	523	19	1		1	RAP1GAP	1	21929359	Silent	SNP	C	TCGA-BR-7901-01A-11D-2201-08	5680522	21929359	227321262	5	43149											
KIAA0467	23334	broad.mit.edu	37	chr1	43908169	43908169	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcagcattgggccgagcGctggttcgcctggtgcagtg	19	10	0	0	rs138303356		TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:43908169G>A	uc001cjk.1	+	43	5796	c.5334G>A	c.(5332-5334)GCG>GCA	p.A1778A		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2677						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGGCCGAGCGCTGGTTCGCC	0.597													A	43908169	G	A	43908169	2	1	56	1	0	0	0	0	0	0	0	1	8178	1074	38	1		1	KIAA0467	1	43908169	Silent	SNP	G	TCGA-BR-7901-01A-11D-2201-08	21978810	43908169	205342452	6	43150											
C1orf141	400757	broad.mit.edu	37	chr1	67591441	67591441	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gttatgatagttacatttttGattttgtaatgctgcatgac	8	4	0	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:67591441G>C	uc001ddl.1	-	3	338	c.227C>G	c.(226-228)TCA>TGA	p.S76*	C1orf141_uc001ddm.1_Nonsense_Mutation_p.S76*|C1orf141_uc001ddn.1_RNA	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	hypothetical protein LOC400757	76										ovary(1)	1						TTACATTTTTGATTTTGTAAT	0.239													C	67591441	G	C	67591441	4	2	56	1	0	0	0	0	0	1	0	0	2001	1294	45	5	995	5	C1orf141	1	67591441	Nonsense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	23683272	67591441	181659180	7	43151											
USP33	23032	broad.mit.edu	37	chr1	78201795	78201795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatccagatcatcaaataCggcaaccagaggagttttta	7	8	2	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:78201795C>T	uc001dht.2	-	7	840	c.493G>A	c.(493-495)GTA>ATA	p.V165I	USP33_uc001dhu.2_Missense_Mutation_p.V134I|USP33_uc001dhv.2_5'UTR|USP33_uc001dhw.2_Missense_Mutation_p.V165I	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	165					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3						TCATCAAATACGGCAACCAGA	0.343													T	78201795	C	T	78201795	3	4	56	1	0	0	0	0	1	0	0	0	17061	536	19	1	2423	1	USP33	1	78201795	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	10610354	78201795	171048826	8	43152											
DPYD	1806	broad.mit.edu	37	chr1	97915676	97915676	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accaatatgcagccgttttcTcactgatgagctcaatattc	6	11	2	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:97915676T>G	uc001drv.2	-	14	1981	c.1844A>C	c.(1843-1845)GAG>GCG	p.E615A		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	615					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGCCGTTTTCTCACTGATGAG	0.443													G	97915676	T	G	97915676	3	3	56	1	0	0	0	0	1	0	0	0	4745	1551	54	5	1273	5	DPYD	1	97915676	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	19713881	97915676	151334945	9	43153											
ADORA3	140	broad.mit.edu	37	chr1	112045631	112045631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgccgcaggctacctgaCggtaagcttgacccgcaagt	11	15	0	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:112045631C>T	uc001ebh.3	-	1	1113	c.346G>A	c.(346-348)GTC>ATC	p.V116I	ADORA3_uc001ebg.3_Intron|ADORA3_uc001ebf.2_Missense_Mutation_p.V116I	NM_000677	NP_000668	P33765	AA3R_HUMAN	adenosine A3 receptor isoform 2	116	Cytoplasmic (By similarity).				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			ovary(2)|large_intestine(1)|skin(1)	4		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GGCTACCTGACGGTAAGCTTG	0.522													T	112045631	C	T	112045631	3	4	56	1	0	0	0	0	1	0	0	0	329	536	19	1	1332	1	ADORA3	1	112045631	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	14129955	112045631	137204990	10	43154											
HRNR	388697	broad.mit.edu	37	chr1	152185618	152185618	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaagtgctactaggaaaactGagaaaatatgagccagaact	10	6	0	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:152185618G>C	uc001ezt.1	-	3	8563	c.8487C>G	c.(8485-8487)CTC>CTG	p.L2829L		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2829					keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGGAAAACTGAGAAAATATG	0.403													C	152185618	G	C	152185618	2	2	56	1	0	0	0	0	0	0	0	1	7359	1277	45	5		5	HRNR	1	152185618	Silent	SNP	G	TCGA-BR-7901-01A-11D-2201-08	40139987	152185618	97065003	11	43155			1	12		3	3	158	G		6.991581e-07
HRNR	388697	broad.mit.edu	37	chr1	152185707	152185707	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccctgagccacttccatgctGactataaccagaggactgtc	8	14	0	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:152185707G>C	uc001ezt.1	-	3	8474	c.8398C>G	c.(8398-8400)CAG>GAG	p.Q2800E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2800	30.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCCATGCTGACTATAACCA	0.522													C	152185707	G	C	152185707	3	2	56	1	0	0	0	0	1	0	0	0	7359	1299	45	5	158	5	HRNR	1	152185707	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	89	152185707	97064914	12	43156			1	12		3	3	158	G		6.991581e-07
HRNR	388697	broad.mit.edu	37	chr1	152185775	152185775	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggaagactgccctgaaccaGacccgtgtcggccgtggcta	13	13	0	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:152185775G>C	uc001ezt.1	-	3	8406	c.8330C>G	c.(8329-8331)TCT>TGT	p.S2777C		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2777	30.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGAACCAGACCCGTGTCG	0.592													C	152185775	G	C	152185775	3	2	56	1	0	0	0	0	1	0	0	0	7359	942	33	5	226	5	HRNR	1	152185775	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	68	152185775	97064846	13	43157			1	12		3	3	158	G		6.991581e-07
FLG2	388698	broad.mit.edu	37	chr1	152330090	152330090	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctcgatccagcatatgcaTgatgacatccactgtgtctg	8	11	2	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:152330090T>C	uc001ezw.3	-	3	245	c.172A>G	c.(172-174)ATG>GTG	p.M58V	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	58	S-100-like (By similarity).|EF-hand 2.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCATATGCATGATGACATCC	0.438													C	152330090	T	C	152330090	3	2	56	1	0	0	0	0	1	0	0	0	5923	1464	51	3	7007	3	FLG2	1	152330090	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	144315	152330090	96920531	14	43158											
LCE2B	26239	broad.mit.edu	37	chr1	152659558	152659558	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagccaccacaggccccgtcTcttccaccggcgccggcacc	10	21	1	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:152659558T>C	uc001fai.2	+	2	293	c.239T>C	c.(238-240)CTC>CCC	p.L80P		NM_014357	NP_055172	O14633	LCE2B_HUMAN	late cornified envelope 2B	80	Cys-rich.				keratinization					ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGCCCCGTCTCTTCCACCGG	0.687													C	152659558	T	C	152659558	3	2	56	1	0	0	0	0	1	0	0	0	8666	1551	54	3	241	3	LCE2B	1	152659558	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	329468	152659558	96591063	15	43159											
SPRR3	6707	broad.mit.edu	37	chr1	152975747	152975747	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagccaggttgtaccaAggtccctgagccaggctgta	12	13	0	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:152975747A>C	uc001fax.3	+	3	401	c.251A>C	c.(250-252)AAG>ACG	p.K84T	SPRR3_uc001faz.3_Missense_Mutation_p.K84T|SPRR3_uc001fay.2_Missense_Mutation_p.K76T	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	84	6.|14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			skin(1)	1	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTTGTACCAAGGTCCCTGAG	0.592													C	152975747	A	C	152975747	3	2	56	1	0	0	0	0	1	0	0	0	15102	72	3	5	253	5	SPRR3	1	152975747	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	316189	152975747	96274874	16	43160											
OR10K2	391107	broad.mit.edu	37	chr1	158390620	158390620	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggatgagaagccgaggaagaTgacctctctcaccacagtct	11	11	3	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:158390620T>A	uc010pii.1	-	1	37	c.37A>T	c.(37-39)ATC>TTC	p.I13F		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	13	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					CCGAGGAAGATGACCTCTCTC	0.512													A	158390620	T	A	158390620	3	1	56	1	0	0	0	0	1	0	0	0	10914	1464	51	5	903	5	OR10K2	1	158390620	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	5414873	158390620	90860001	17	43161											
OR10K1	391109	broad.mit.edu	37	chr1	158435654	158435654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggctgtgccatccaaatGttttccttcctcttctttgg	8	12	2	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:158435654G>A	uc010pij.1	+	1	303	c.303G>A	c.(301-303)ATG>ATA	p.M101I		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K,	101	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					CCATCCAAATGTTTTCCTTCC	0.502													A	158435654	G	A	158435654	3	1	56	1	0	0	0	0	1	0	0	0	10913	1377	48	4	305	4	OR10K1	1	158435654	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	45034	158435654	90814967	18	43162											
SPTA1	6708	broad.mit.edu	37	chr1	158639573	158639573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggttgcagtcttgtctaCagtctgaaaaaataaaaata	7	5	3	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:158639573C>T	uc001fst.1	-	13	1802	c.1603G>A	c.(1603-1605)GTA>ATA	p.V535I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	535	Spectrin 6.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GTCTTGTCTACAGTCTGAAAA	0.403													T	158639573	C	T	158639573	3	4	56	1	0	0	0	0	1	0	0	0	15115	478	17	4	5816	4	SPTA1	1	158639573	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	203919	158639573	90611048	19	43163											
OR6K6	128371	broad.mit.edu	37	chr1	158724937	158724937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccatccccaagatgctgtCctgcctaatcagtgagcaga	8	14	1	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:158724937C>T	uc001fsw.1	+	1	332	c.332C>T	c.(331-333)TCC>TTC	p.S111F		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	111	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					AAGATGCTGTCCTGCCTAATC	0.512													T	158724937	C	T	158724937	3	4	56	1	0	0	0	0	1	0	0	0	11204	855	30	4	334	4	OR6K6	1	158724937	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	85364	158724937	90525684	20	43164											
RGS4	5999	broad.mit.edu	37	chr1	163044232	163044232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaggattcctaccgccGcttcctcaagtctcgattct	9	13	3	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:163044232G>A	uc009wuy.2	+	5	1011	c.500G>A	c.(499-501)CGC>CAC	p.R167H	RGS4_uc001gcl.3_Missense_Mutation_p.R264H|RGS4_uc009wuz.2_3'UTR|RGS4_uc009wva.2_Missense_Mutation_p.R149H	NM_005613	NP_005604	P49798	RGS4_HUMAN	regulator of G-protein signaling 4 isoform 2	167	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(2)|central_nervous_system(1)	3						TCCTACCGCCGCTTCCTCAAG	0.502													A	163044232	G	A	163044232	3	1	56	1	0	0	0	0	1	0	0	0	13307	1087	38	1	813	1	RGS4	1	163044232	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	4319295	163044232	86206389	21	43165											
LMX1A	4009	broad.mit.edu	37	chr1	165175151	165175151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggtggggtgagaccctgtCggaagggatctgagctgtag	20	6	1	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:165175151C>T	uc001gcy.1	-	7	1159	c.938G>A	c.(937-939)CGA>CAA	p.R313Q	LMX1A_uc001gcz.1_Missense_Mutation_p.R313Q|LMX1A_uc001gcw.1_Missense_Mutation_p.R31Q|LMX1A_uc001gcx.1_Missense_Mutation_p.R64Q	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	313						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	all_hematologic(923;0.248)					GAGACCCTGTCGGAAGGGATC	0.582													T	165175151	C	T	165175151	3	4	56	1	0	0	0	0	1	0	0	0	8861	884	31	1	218	1	LMX1A	1	165175151	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	2130919	165175151	84075470	22	43166											
TPR	7175	broad.mit.edu	37	chr1	186324590	186324590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaattttggtattttgtgatCgcaaatctgtaacttgttct	7	5	2	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:186324590C>T	uc001grv.2	-	17	2420	c.2123G>A	c.(2122-2124)CGA>CAA	p.R708Q		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	708	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ATTTTGTGATCGCAAATCTGT	0.284			T	NTRK1	papillary thyroid								T	186324590	C	T	186324590	3	4	56	1	0	0	0	0	1	0	0	0	16413	884	31	1	5108	1	TPR	1	186324590	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	21149439	186324590	62926031	23	43167											
CFHR3	10878	broad.mit.edu	37	chr1	196748352	196748352	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atttcatgagaatatgcgtaGaccatactttccagtagctg	8	8	1	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:196748352G>A	uc001gtl.2	+	2	206	c.119G>A	c.(118-120)AGA>AAA	p.R40K	CFHR3_uc001gtk.2_Missense_Mutation_p.R40K|CFHR3_uc010poy.1_Missense_Mutation_p.R40K|CFHR1_uc001gtm.2_Missense_Mutation_p.R3K	NM_021023	NP_066303	Q02985	FHR3_HUMAN	complement factor H-related 3 precursor	40	Sushi 1.					extracellular space					0						AATATGCGTAGACCATACTTT	0.323													A	196748352	G	A	196748352	3	1	56	1	0	0	0	0	1	0	0	0	3286	942	33	4	125	4	CFHR3	1	196748352	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	10423762	196748352	52502269	24	43168											
CFHR3	10878	broad.mit.edu	37	chr1	196749078	196749078	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtacggagaaaggctggtcTcctactcccagatgcatccg	11	12	1	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:196749078T>C	uc001gtl.2	+	3	492	c.405T>C	c.(403-405)TCT>TCC	p.S135S	CFHR3_uc001gtk.2_Silent_p.S135S|CFHR3_uc010poy.1_Silent_p.S135S|CFHR1_uc001gtm.2_Intron	NM_021023	NP_066303	Q02985	FHR3_HUMAN	complement factor H-related 3 precursor	135	Sushi 2.					extracellular space					0						AAGGCTGGTCTCCTACTCCCA	0.493													C	196749078	T	C	196749078	2	2	56	1	0	0	0	0	0	0	0	1	3286	1538	54	3		3	CFHR3	1	196749078	Silent	SNP	T	TCGA-BR-7901-01A-11D-2201-08	726	196749078	52501543	25	43169											
PTPRC	5788	broad.mit.edu	37	chr1	198711490	198711490	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagatgcctgatggttcaAgtagaggtatgttctaacct	11	7	2	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:198711490A>G	uc001gur.1	+	25	2865	c.2685A>G	c.(2683-2685)CAA>CAG	p.Q895Q	PTPRC_uc001gus.1_Silent_p.Q847Q|PTPRC_uc001gut.1_Silent_p.Q734Q	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	895	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.	Substrate (By similarity).			axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						TGATGGTTCAAGTAGAGGTAT	0.363													G	198711490	A	G	198711490	2	3	56	1	0	0	0	0	0	0	0	1	12797	69	3	3		3	PTPRC	1	198711490	Silent	SNP	A	TCGA-BR-7901-01A-11D-2201-08	1962412	198711490	50539131	26	43170											
INTS7	25896	broad.mit.edu	37	chr1	212156066	212156066	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agttaggactctaactccatGagctgcaatgcccctgttat	8	11	1	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:212156066G>A	uc001hiw.1	-	9	1189	c.1084C>T	c.(1084-1086)CAT>TAT	p.H362Y	INTS7_uc009xdb.1_Missense_Mutation_p.H362Y|INTS7_uc001hix.1_Missense_Mutation_p.H238Y|INTS7_uc001hiy.1_Missense_Mutation_p.H362Y|INTS7_uc010pta.1_Missense_Mutation_p.H313Y	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	362					snRNA processing	integrator complex	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CTAACTCCATGAGCTGCAATG	0.378													A	212156066	G	A	212156066	3	1	56	1	0	0	0	0	1	0	0	0	7783	1290	45	4	1852	4	INTS7	1	212156066	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	13444576	212156066	37094555	27	43171											
ACTN2	88	broad.mit.edu	37	chr1	236914822	236914822	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cacgctgcccgaggcggacgGagagcggcagtccatcatgg	16	13	1	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:236914822G>C	uc001hyf.2	+	15	1913	c.1709G>C	c.(1708-1710)GGA>GCA	p.G570A	ACTN2_uc001hyg.2_Missense_Mutation_p.G362A|ACTN2_uc009xgi.1_Missense_Mutation_p.G570A|ACTN2_uc010pxu.1_Missense_Mutation_p.G259A|ACTN2_uc001hyh.2_Missense_Mutation_p.G258A	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	570	Spectrin 3.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGGCGGACGGAGAGCGGCAG	0.537													C	236914822	G	C	236914822	3	2	56	1	0	0	0	0	1	0	0	0	205	1174	41	5	1767	5	ACTN2	1	236914822	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	24758756	236914822	12335799	28	43172											
RYR2	6262	broad.mit.edu	37	chr1	237617865	237617865	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaatcggcaaaatctcttCcaggaagaggtccgtttcta	9	9	2	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:237617865C>T	uc001hyl.1	+	15	1587	c.1467C>T	c.(1465-1467)TTC>TTT	p.F489F		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	489	Cytoplasmic (By similarity).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAATCTCTTCCAGGAAGAGG	0.423													T	237617865	C	T	237617865	2	4	56	1	0	0	0	0	0	0	0	1	13769	854	30	4		4	RYR2	1	237617865	Silent	SNP	C	TCGA-BR-7901-01A-11D-2201-08	703043	237617865	11632756	29	43173											
RYR2	6262	broad.mit.edu	37	chr1	237675029	237675029	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacacccatgcctggtggaGttctccaagctgcctgaaca	9	14	1	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:237675029G>A	uc001hyl.1	+	24	2880	c.2760G>A	c.(2758-2760)GAG>GAA	p.E920E		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	920	Cytoplasmic (By similarity).|1.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCTGGTGGAGTTCTCCAAGC	0.438													A	237675029	G	A	237675029	2	1	56	1	0	0	0	0	0	0	0	1	13769	1020	36	4		4	RYR2	1	237675029	Silent	SNP	G	TCGA-BR-7901-01A-11D-2201-08	57164	237675029	11575592	30	43174											
PLD5	200150	broad.mit.edu	37	chr1	242511425	242511425	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taccgacatttattttggcaAtttttttctgagagtccatc	6	8	1	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:242511425A>T	uc001hzn.1	-	2	436	c.309T>A	c.(307-309)AAT>AAA	p.N103K	PLD5_uc001hzl.3_Missense_Mutation_p.N41K|PLD5_uc001hzm.3_Translation_Start_Site|PLD5_uc001hzo.1_Missense_Mutation_p.I9N			Q8N7P1	PLD5_HUMAN	RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;	103						integral to membrane	catalytic activity			ovary(6)	6	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TATTTTGGCAATTTTTTTCTG	0.443													T	242511425	A	T	242511425	3	4	56	1	0	0	0	0	1	0	0	0	12049	101	4	5	1344	5	PLD5	1	242511425	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	4836396	242511425	6739196	31	43175											
OR2T6	254879	broad.mit.edu	37	chr1	248551074	248551074	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	attaacatagaccctcatctCcacacccccatgtacttcct	2	17	2	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:248551074C>A	uc001iei.1	+	1	165	c.165C>A	c.(163-165)CTC>CTA	p.L55L		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	55	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L55P(1)		ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCCTCATCTCCACACCCCCA	0.473													A	248551074	C	A	248551074	2	1	56	1	0	0	0	0	0	0	0	1	11029	842	30	5		5	OR2T6	1	248551074	Silent	SNP	C	TCGA-BR-7901-01A-11D-2201-08	6039649	248551074	699547	32	43176											
OR2T3	343173	broad.mit.edu	37	chr1	248637588	248637588	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggagcatgatgcagtcaAgaatgaaccaagaaaagtag	12	5	1	5			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:248637588A>G	uc001iel.1	+	1	937	c.937A>G	c.(937-939)AGA>GGA	p.R313G		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	313	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGCAGTCAAGAATGAACCA	0.483													G	248637588	A	G	248637588	3	3	56	1	0	0	0	0	1	0	0	0	11023	64	3	3	939	3	OR2T3	1	248637588	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	86514	248637588	613033	33	43177											
OR2T10	127069	broad.mit.edu	37	chr1	248756332	248756332	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccatagaagaggctgaccacTgtaatgtgggaggagcaggt	15	7	0	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr1:248756332T>A	uc010pzn.1	-	1	738	c.738A>T	c.(736-738)ACA>ACT	p.T246T		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T,	246	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCTGACCACTGTAATGTGGG	0.443													A	248756332	T	A	248756332	2	1	56	1	0	0	0	0	0	0	0	1	11017	1567	55	5		5	OR2T10	1	248756332	Silent	SNP	T	TCGA-BR-7901-01A-11D-2201-08	118744	248756332	494289	34	43178											
MYT1L	23040	broad.mit.edu	37	chr2	1926913	1926913	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcatcctcagcgatttTgccgaggtttaacaatgact	10	10	1	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr2:1926913T>C	uc002qxe.2	-	10	1455	c.628A>G	c.(628-630)AAA>GAA	p.K210E	MYT1L_uc002qxd.2_Missense_Mutation_p.K210E|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	210					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCAGCGATTTTGCCGAGGTTT	0.423													C	1926913	T	C	1926913	3	2	56	1	0	0	0	0	1	0	0	0	10107	1821	63	3	2990	3	MYT1L	2	1926913	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08		1926913	241272460	35	43179											
FAM98A	25940	broad.mit.edu	37	chr2	33817259	33817259	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agcccactcacctcaagctgGaattcttcagcttcactcgg	7	15	5	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr2:33817259G>C	uc002rpa.1	-	3	299	c.225C>G	c.(223-225)TTC>TTG	p.F75L	FAM98A_uc010yne.1_5'UTR	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	hypothetical protein LOC25940	75										ovary(1)	1	all_hematologic(175;0.115)					CCTCAAGCTGGAATTCTTCAG	0.378													C	33817259	G	C	33817259	3	2	56	1	0	0	0	0	1	0	0	0	5656	1165	41	5	1355	5	FAM98A	2	33817259	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	31890346	33817259	209382114	36	43180											
AAK1	22848	broad.mit.edu	37	chr2	69870090	69870090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtagccactgcccaggcccGaggtgctgccccctcctccg	11	19	0	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr2:69870090G>A	uc002sfp.2	-	2	588	c.83C>T	c.(82-84)TCG>TTG	p.S28L	AAK1_uc010fdk.2_Missense_Mutation_p.S28L|AAK1_uc010yqm.1_Missense_Mutation_p.S28L|AAK1_uc010fdm.1_Missense_Mutation_p.S28L	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	28	Gly-rich.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0						GCCCAGGCCCGAGGTGCTGCC	0.647													A	69870090	G	A	69870090	3	1	56	1	0	0	0	0	1	0	0	0	16	1059	37	1	2886	1	AAK1	2	69870090	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	36052831	69870090	173329283	37	43181											
C2orf42	54980	broad.mit.edu	37	chr2	70377631	70377631	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctcgccaatcttagattgggGaaggatatctgggatccact	11	9	2	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr2:70377631G>C	uc002sgh.2	-	10	1910	c.1582C>G	c.(1582-1584)CCC>GCC	p.P528A		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	528											0						TTAGATTGGGGAAGGATATCT	0.512													C	70377631	G	C	70377631	3	2	56	1	0	0	0	0	1	0	0	0	2166	1174	41	5	146	5	C2orf42	2	70377631	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	507541	70377631	172821742	38	43182											
SEMA4F	10505	broad.mit.edu	37	chr2	74900920	74900920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcatttgactcatacgagCgcattaaagtcccacgggtg	11	10	1	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr2:74900920C>T	uc002sna.1	+	7	898	c.787C>T	c.(787-789)CGC>TGC	p.R263C	SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc010ffq.1_Missense_Mutation_p.R230C|SEMA4F_uc010ffr.1_Intron|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Intron	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	263	Sema.|Extracellular (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4						CTCATACGAGCGCATTAAAGT	0.552													T	74900920	C	T	74900920	3	4	56	1	0	0	0	0	1	0	0	0	14035	768	27	1	813	1	SEMA4F	2	74900920	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	4523289	74900920	168298453	39	43183											
AFF3	3899	broad.mit.edu	37	chr2	100623915	100623915	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggttggagagttcatcccccTtgttagtctggagaaagaaa	12	7	2	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr2:100623915T>A	uc002tag.2	-	5	418	c.182A>T	c.(181-183)AAG>ATG	p.K61M	AFF3_uc002taf.2_Missense_Mutation_p.K86M|AFF3_uc010fiq.1_Missense_Mutation_p.K61M|AFF3_uc010yvr.1_Missense_Mutation_p.K215M|AFF3_uc002tah.1_Missense_Mutation_p.K86M|AFF3_uc010fir.1_Missense_Mutation_p.K138M|AFF3_uc002tai.2_Translation_Start_Site	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	61					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						TTCATCCCCCTTGTTAGTCTG	0.423													A	100623915	T	A	100623915	3	1	56	1	0	0	0	0	1	0	0	0	358	1609	56	5	3578	5	AFF3	2	100623915	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	25722995	100623915	142575458	40	43184											
RANBP2	5903	broad.mit.edu	37	chr2	109380603	109380603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccgcgcgaaattgtttcGtttcgatgtagaatccaaag	9	9	0	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr2:109380603G>A	uc002tem.3	+	20	3734	c.3608G>A	c.(3607-3609)CGT>CAT	p.R1203H		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1203	RanBD1 1.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						AAATTGTTTCGTTTCGATGTA	0.393													A	109380603	G	A	109380603	3	1	56	1	0	0	0	0	1	0	0	0	13028	1145	40	1	3686	1	RANBP2	2	109380603	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	8756688	109380603	133818770	41	43185											
DPP10	57628	broad.mit.edu	37	chr2	116548896	116548896	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgtcccttcccaaagattTtatggaccgaaaccagtatg	8	10	0	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr2:116548896T>G	uc002tla.1	+	19	2121	c.1664T>G	c.(1663-1665)TTT>TGT	p.F555C	DPP10_uc002tlb.1_Missense_Mutation_p.F505C|DPP10_uc002tlc.1_Missense_Mutation_p.F551C|DPP10_uc002tle.2_Missense_Mutation_p.F559C|DPP10_uc002tlf.1_Missense_Mutation_p.F548C	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	555	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						CCCAAAGATTTTATGGACCGA	0.299													G	116548896	T	G	116548896	3	3	56	1	0	0	0	0	1	0	0	0	4727	1841	64	5	1909	5	DPP10	2	116548896	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	7168293	116548896	126650477	42	43186											
LCT	3938	broad.mit.edu	37	chr2	136575081	136575081	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaggcatccaccacgctctCattctgccatccaccatgat	6	16	2	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr2:136575081C>T	uc002tuu.1	-	6	1548	c.1537G>A	c.(1537-1539)GAG>AAG	p.E513K		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	513	Extracellular (Potential).|4 X approximate repeats.|2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		ACCACGCTCTCATTCTGCCAT	0.597													T	136575081	C	T	136575081	3	4	56	1	0	0	0	0	1	0	0	0	8693	835	29	4	4294	4	LCT	2	136575081	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	20026185	136575081	106624292	43	43187											
SPOPL	339745	broad.mit.edu	37	chr2	139326627	139326627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccacagtttggcattccaCgcaaacggctaaaacagtcc	8	13	0	0	rs142534399	by1000genomes	TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr2:139326627C>T	uc002tvh.2	+	11	1556	c.1156C>T	c.(1156-1158)CGC>TGC	p.R386C		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	386						nucleus				skin(2)|breast(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0296)		TGGCATTCCACGCAAACGGCT	0.443													T	139326627	C	T	139326627	3	4	56	1	0	0	0	0	1	0	0	0	15084	536	19	1	1194	1	SPOPL	2	139326627	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	2751546	139326627	103872746	44	43188											
ZEB2	9839	broad.mit.edu	37	chr2	145156214	145156214	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagatgaggaagaaacactgTtatgatctaaactgatgcta	9	6	1	5			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr2:145156214T>G	uc002tvu.2	-	8	3020	c.2540A>C	c.(2539-2541)AAC>ACC	p.N847T	ZEB2_uc002tvv.2_Missense_Mutation_p.N841T|ZEB2_uc010zbm.1_Missense_Mutation_p.N818T|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.N876T	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	847						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		AGAAACACTGTTATGATCTAA	0.338													G	145156214	T	G	145156214	3	3	56	1	0	0	0	0	1	0	0	0	17621	1725	60	5	1116	5	ZEB2	2	145156214	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	5829587	145156214	98043159	45	43189											
GRB14	2888	broad.mit.edu	37	chr2	165365252	165365252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaatattaagcctgtacCttaaagcagaatccatagtt	5	8	1	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr2:165365252C>T	uc002ucl.2	-	7	1468	c.927G>A	c.(925-927)AAG>AAA	p.K309K	GRB14_uc010zcv.1_Silent_p.K222K|GRB14_uc002ucm.2_RNA	NM_004490	NP_004481	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	309	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						AAGCCTGTACCTTAAAGCAGA	0.363													T	165365252	C	T	165365252	2	4	56	1	0	0	0	0	0	0	0	1	6757	695	24	4		4	GRB14	2	165365252	Silent	SNP	C	TCGA-BR-7901-01A-11D-2201-08	20209038	165365252	77834121	46	43190											
WIPF1	7456	broad.mit.edu	37	chr2	175437098	175437098	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggaaacctccctgggccActtgggggtgaaaagggttt	14	9	0	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr2:175437098A>G	uc002uiy.2	-	6	767	c.435T>C	c.(433-435)AGT>AGC	p.S145S	uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Silent_p.S145S|WIPF1_uc010fqt.1_Silent_p.S145S|WIPF1_uc002ujc.1_Silent_p.S145S|WIPF1_uc002uiz.2_Silent_p.S145S|WIPF1_uc002ujb.1_Silent_p.S145S|WIPF1_uc010zep.1_Silent_p.S145S	NM_003387	NP_003378	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	145					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)|skin(1)	2						TCCCTGGGCCACTTGGGGGTG	0.582													G	175437098	A	G	175437098	2	3	56	1	0	0	0	0	0	0	0	1	17364	156	6	3		3	WIPF1	2	175437098	Silent	SNP	A	TCGA-BR-7901-01A-11D-2201-08	10071846	175437098	67762275	47	43191											
HOXD10	3236	broad.mit.edu	37	chr2	176983843	176983843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctagagatcagtaagagcGttaacctcaccgacaggcag	11	11	2	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr2:176983843G>A	uc002ukj.2	+	2	977	c.907G>A	c.(907-909)GTT>ATT	p.V303I		NM_002148	NP_002139	P28358	HXD10_HUMAN	homeobox D10	303	Homeobox.					nucleus	sequence-specific DNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CAGTAAGAGCGTTAACCTCAC	0.498													A	176983843	G	A	176983843	3	1	56	1	0	0	0	0	1	0	0	0	7319	1145	40	1	913	1	HOXD10	2	176983843	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	1546745	176983843	66215530	48	43192											
ZNF804A	91752	broad.mit.edu	37	chr2	185801262	185801262	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctaccacagaggaaaatgTtaagcataacgaggcatcca	9	9	0	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr2:185801262T>G	uc002uph.2	+	4	1733	c.1139T>G	c.(1138-1140)GTT>GGT	p.V380G		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	380						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						GAGGAAAATGTTAAGCATAAC	0.383													G	185801262	T	G	185801262	3	3	56	1	0	0	0	0	1	0	0	0	18167	1725	60	5	1153	5	ZNF804A	2	185801262	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	8817419	185801262	57398111	49	43193											
CDK15	65061	broad.mit.edu	37	chr2	202672278	202672278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccccaggggacttcaagCtgcccgtgcccagaagttca	10	15	3	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr2:202672278C>T	uc002uyt.2	+	2	234	c.185C>T	c.(184-186)GCT>GTT	p.A62V	CDK15_uc010ftm.2_5'UTR|CDK15_uc002uys.2_Missense_Mutation_p.A11V|CDK15_uc010ftn.1_Missense_Mutation_p.A11V|CDK15_uc010fto.1_Missense_Mutation_p.A62V	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	PFTAIRE protein kinase 2	62							ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(2)|ovary(1)|lung(1)|kidney(1)	5					Adenosine triphosphate(DB00171)	GGACTTCAAGCTGCCCGTGCC	0.443													T	202672278	C	T	202672278	3	4	56	1	0	0	0	0	1	0	0	0	3131	797	28	2	34	2	CDK15	2	202672278	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	16871016	202672278	40527095	50	43194											
INO80D	54891	broad.mit.edu	37	chr2	206892937	206892937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctttcctaaacgtatgcCggcatttcttttgacgagat	8	9	1	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr2:206892937C>T	uc002vaz.3	-	6	1601	c.1196G>A	c.(1195-1197)CGG>CAG	p.R399Q		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	399					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						AAACGTATGCCGGCATTTCTT	0.502													T	206892937	C	T	206892937	3	4	56	1	0	0	0	0	1	0	0	0	7749	652	23	1	1911	1	INO80D	2	206892937	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	4220659	206892937	36306436	51	43195											
ERBB4	2066	broad.mit.edu	37	chr2	212251754	212251754	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattacagcaggagtcatcaAaaatctcagcagtagcaccc	7	12	3	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr2:212251754A>C	uc002veg.1	-	27	3403	c.3305T>G	c.(3304-3306)TTT>TGT	p.F1102C	ERBB4_uc002veh.1_Missense_Mutation_p.F1086C|ERBB4_uc010zji.1_Missense_Mutation_p.F1092C|ERBB4_uc010zjj.1_Missense_Mutation_p.F1076C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1102	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GGAGTCATCAAAAATCTCAGC	0.547										TSP Lung(8;0.080)			C	212251754	A	C	212251754	3	2	56	1	0	0	0	0	1	0	0	0	5209	14	1	5	629	5	ERBB4	2	212251754	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	5358817	212251754	30947619	52	43196											
SMARCAL1	50485	broad.mit.edu	37	chr2	217279594	217279594	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagcaaggcccatcccaaaAtttcccaagggagtcttgta	8	12	1	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr2:217279594A>G	uc002vgc.3	+	3	497	c.167A>G	c.(166-168)AAT>AGT	p.N56S	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.N56S|SMARCAL1_uc010fvg.2_Missense_Mutation_p.N56S	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	56					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CCATCCCAAAATTTCCCAAGG	0.502									Schimke_Immuno-Osseous_Dysplasia				G	217279594	A	G	217279594	3	3	56	1	0	0	0	0	1	0	0	0	14773	101	4	3	169	3	SMARCAL1	2	217279594	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	5027840	217279594	25919779	53	43197											
CNTN6	27255	broad.mit.edu	37	chr3	1269633	1269633	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgcctggccaccaatcTtctggggacaattctgagtc	10	13	3	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr3:1269633T>G	uc003boz.2	+	4	581	c.314T>G	c.(313-315)CTT>CGT	p.L105R	CNTN6_uc010hbo.2_Missense_Mutation_p.L100R|CNTN6_uc011asj.1_Missense_Mutation_p.L33R|CNTN6_uc003bpa.2_Missense_Mutation_p.L105R	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	105	Ig-like C2-type 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GCCACCAATCTTCTGGGGACA	0.423													G	1269633	T	G	1269633	3	3	56	1	0	0	0	0	1	0	0	0	3645	1609	56	5	324	5	CNTN6	3	1269633	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08		1269633	196752797	54	43198											
CNTN4	152330	broad.mit.edu	37	chr3	2908441	2908441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttttcctttcagagctgAgttatgcctggatcttcaat	7	8	3	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr3:2908441A>G	uc003bpc.2	+	7	681	c.460A>G	c.(460-462)AGT>GGT	p.S154G	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.S154G	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	154	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTCAGAGCTGAGTTATGCCTG	0.353													G	2908441	A	G	2908441	3	3	56	1	0	0	0	0	1	0	0	0	3643	304	11	3	478	3	CNTN4	3	2908441	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	1638808	2908441	195113989	55	43199											
IQSEC1	9922	broad.mit.edu	37	chr3	12977720	12977720	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gtgcagggctgtctggggttCggtgtcccgggcccgcgccg	19	13	1	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr3:12977720C>G	uc003bxt.2	-	3	847	c.838G>C	c.(838-840)GAA>CAA	p.E280Q	IQSEC1_uc003bxu.3_Missense_Mutation_p.E158Q|IQSEC1_uc011auw.1_Missense_Mutation_p.E266Q	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	280					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						GTCTGGGGTTCGGTGTCCCGG	0.637													G	12977720	C	G	12977720	3	3	56	1	0	0	0	0	1	0	0	0	7817	893	31	5	2646	5	IQSEC1	3	12977720	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	10069279	12977720	185044710	56	43200											
ULK4	54986	broad.mit.edu	37	chr3	41938397	41938397	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggagattcagcttggctcGggaggcccccatgctcttct	12	12	3	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr3:41938397G>A	uc003ckv.3	-	15	1648	c.1447C>T	c.(1447-1449)CGA>TGA	p.R483*	ULK4_uc003ckw.2_Nonsense_Mutation_p.R483*|ULK4_uc003ckx.1_Nonsense_Mutation_p.R483*	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	483							ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGCTTGGCTCGGGAGGCCCCC	0.512													A	41938397	G	A	41938397	4	1	56	1	0	0	0	0	0	1	0	0	16975	1124	39	1	2472	1	ULK4	3	41938397	Nonsense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	28960677	41938397	156084033	57	43201											
QRICH1	54870	broad.mit.edu	37	chr3	49094328	49094329	+	Missense_Mutation	DNP	CT	CT	TG													tggagttgctgctgctgctgCtgtggtggtggtgtctgttc							TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr3:49094328_49094329CT>TG	uc010hkq.2	-	4	1600_1601	c.1304_1305AG>CA	c.(1303-1305)CAG>CCA	p.Q435P	QRICH1_uc003cvu.2_Missense_Mutation_p.Q435P|QRICH1_uc003cvv.2_Missense_Mutation_p.Q435P	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	435	Gln-rich.									ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		gctgctgctgctgtggtggtgg	0.361													TG	49094329	CT	TG	49094328	3	4	56	1	0	0	0	0	1	0	0	0	12879	796	28	2	1057	2	QRICH1	3	49094328	Missense_Mutation	DNP	CT	TCGA-BR-7901-01A-11D-2201-08	7155931	49094328	148928102	58	43202											
ACTR8	93973	broad.mit.edu	37	chr3	53909990	53909990	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttaccgagtattccgatgaGacaccccatcctccacacag	6	16	0	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr3:53909990G>C	uc003dhd.2	-	7	955	c.896C>G	c.(895-897)TCT>TGT	p.S299C	ACTR8_uc003dhb.2_Missense_Mutation_p.S49C|ACTR8_uc003dhc.2_Missense_Mutation_p.S188C	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	299					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		ATTCCGATGAGACACCCCATC	0.463													C	53909990	G	C	53909990	3	2	56	1	0	0	0	0	1	0	0	0	217	942	33	5	1006	5	ACTR8	3	53909990	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	4815662	53909990	144112440	59	43203											
IMPG2	50939	broad.mit.edu	37	chr3	100951814	100951814	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attcattacaggcctgaaacTtgcaagggttggcttcatca	9	9	3	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr3:100951814T>A	uc003duq.1	-	15	3247	c.3044A>T	c.(3043-3045)AAG>ATG	p.K1015M	IMPG2_uc011bhe.1_Missense_Mutation_p.K878M|IMPG2_uc010hpj.1_RNA	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1015	Extracellular (Potential).|EGF-like 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GGCCTGAAACTTGCAAGGGTT	0.433													A	100951814	T	A	100951814	3	1	56	1	0	0	0	0	1	0	0	0	7729	1609	56	5	701	5	IMPG2	3	100951814	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	47041824	100951814	97070616	60	43204											
BCHE	590	broad.mit.edu	37	chr3	165547928	165547928	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcattcagaagaatttcTtggggatctttatttctaag	8	6	5	2	rs138271111		TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr3:165547928T>G	uc003fem.3	-	2	1054	c.894A>C	c.(892-894)CAA>CAC	p.Q298H	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	298					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GAAGAATTTCTTGGGGATCTT	0.408													G	165547928	T	G	165547928	3	3	56	1	0	0	0	0	1	0	0	0	1358	1606	56	5	926	5	BCHE	3	165547928	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	64596114	165547928	32474502	61	43205											
ZBTB49	166793	broad.mit.edu	37	chr4	4303731	4303731	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accaggagcctctttcagaaTtcttcaagccagaagaatga	8	10	4	4			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr4:4303731T>A	uc003ghu.2	+	3	343	c.168T>A	c.(166-168)AAT>AAA	p.N56K	ZBTB49_uc003ghv.2_Intron|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_5'Flank	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	zinc finger protein 509	56	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						TCTTTCAGAATTCTTCAAGCC	0.318													A	4303731	T	A	4303731	3	1	56	1	0	0	0	0	1	0	0	0	17547	1490	52	5	174	5	ZBTB49	4	4303731	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08		4303731	186850545	62	43206											
PPP2R2C	5522	broad.mit.edu	37	chr4	6374386	6374386	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttggcaaagatcctccgaggGctcacctccaccatcagatc	8	15	2	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr4:6374386G>C	uc003gjc.2	-	5	859	c.489C>G	c.(487-489)AGC>AGG	p.S163R	PPP2R2C_uc003gjb.2_Missense_Mutation_p.S146R|PPP2R2C_uc011bwd.1_Missense_Mutation_p.S156R|PPP2R2C_uc011bwe.1_Missense_Mutation_p.S156R|PPP2R2C_uc003gja.2_Missense_Mutation_p.S163R|PPP2R2C_uc003gjd.1_Missense_Mutation_p.S251R	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	163					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						TCCTCCGAGGGCTCACCTCCA	0.577													C	6374386	G	C	6374386	3	2	56	1	0	0	0	0	1	0	0	0	12386	1194	42	5	874	5	PPP2R2C	4	6374386	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	2070655	6374386	184779890	63	43207											
SLIT2	9353	broad.mit.edu	37	chr4	20618698	20618698	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtgagccatgccacaAgaaggtgtgtgcccatggca	14	10	0	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr4:20618698A>T	uc003gpr.1	+	35	4217	c.4013A>T	c.(4012-4014)AAG>ATG	p.K1338M	SLIT2_uc003gps.1_Missense_Mutation_p.K1330M	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1338	EGF-like 7.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						CCATGCCACAAGAAGGTGTGT	0.597													T	20618698	A	T	20618698	3	4	56	1	0	0	0	0	1	0	0	0	14740	72	3	5	4151	5	SLIT2	4	20618698	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	14244312	20618698	170535578	64	43208											
LRRC66	339977	broad.mit.edu	37	chr4	52883456	52883456	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaacacttccaaagcatgTaaatatgcaaaagggcttaa	6	7	0	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr4:52883456T>C	uc003gzi.2	-	1	337	c.324A>G	c.(322-324)TTA>TTG	p.L108L		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	108						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						CCAAAGCATGTAAATATGCAA	0.403													C	52883456	T	C	52883456	2	2	56	1	0	0	0	0	0	0	0	1	9018	1635	57	3		3	LRRC66	4	52883456	Silent	SNP	T	TCGA-BR-7901-01A-11D-2201-08	32264758	52883456	138270820	65	43209											
HADH	3033	broad.mit.edu	37	chr4	108940820	108940820	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgcctgtcatgaaacttgtgGaggtcagtgggtgtcagctt	14	7	3	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr4:108940820G>T	uc003hyq.2	+	4	693	c.544G>T	c.(544-546)GAG>TAG	p.E182*	HADH_uc010ilx.2_Nonsense_Mutation_p.E182*|HADH_uc010ily.2_Nonsense_Mutation_p.E5*|HADH_uc003hyr.2_Nonsense_Mutation_p.E186*	NM_005327	NP_005318	Q16836	HCDH_HUMAN	L-3-hydroxyacyl-Coenzyme A dehydrogenase	182					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	GAAACTTGTGGAGGTCAGTGG	0.532													T	108940820	G	T	108940820	4	4	56	1	0	0	0	0	0	1	0	0	6942	1175	41	5	558	5	HADH	4	108940820	Nonsense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	56057364	108940820	82213456	66	43210											
FAT4	79633	broad.mit.edu	37	chr4	126412149	126412149	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaagggaattgcatcttccTataagggatggtaatacttt	10	6	1	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr4:126412149T>A	uc003ifj.3	+	17	14172	c.14172T>A	c.(14170-14172)CCT>CCA	p.P4724P	FAT4_uc011cgp.1_Silent_p.P2965P|FAT4_uc003ifi.1_Silent_p.P2201P	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4724	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGCATCTTCCTATAAGGGATG	0.493													A	126412149	T	A	126412149	2	1	56	1	0	0	0	0	0	0	0	1	5692	1509	53	5		5	FAT4	4	126412149	Silent	SNP	T	TCGA-BR-7901-01A-11D-2201-08	17471329	126412149	64742127	67	43211											
USP38	84640	broad.mit.edu	37	chr4	144135153	144135153	+	Frame_Shift_Del	DEL	A	A	-													ctgtgactcacttgtgaatgAaaaaaccataggcagtcctc							TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr4:144135152_144135152GA>G	uc003ijb.3	+	8	2557	c.2023_2023GA>G	c.(2023-2025)gaafs	p.E675fs	USP38_uc003ija.4_Frame_Shift_Del_p.E675fs|USP38_uc003ijc.3_Non-coding_Transcript	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	Homo sapiens ubiquitin specific peptidase 38 (USP38), mRNA.	675					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					ACTTGTGAATGAAAAAACCAT	0.403													-	144135153	A	-	144135153	7	5	56	1	0	1	0	1	0	0	0	0	17066	246	9	0	2058	0	USP38	4	144135153	Frame_Shift_Del	DEL	A	TCGA-BR-7901-01A-11D-2201-08	17723004	144135153	47019123	68	43212											
ZDHHC11	79844	broad.mit.edu	37	chr5	837555	837555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgaactctcttctttgcgGttattaatgagatactcaaa	6	7	3	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr5:837555G>A	uc011cma.1	-	6	1209	c.825C>T	c.(823-825)AAC>AAT	p.N275N	ZDHHC11_uc003jbj.2_RNA|ZDHHC11_uc010itd.1_RNA	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	275						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)|pancreas(1)	2			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CTTCTTTGCGGTTATTAATGA	0.488													A	837555	G	A	837555	2	1	56	1	0	0	0	0	0	0	0	1	17598	1252	44	4		4	ZDHHC11	5	837555	Silent	SNP	G	TCGA-BR-7901-01A-11D-2201-08		837555	180077705	69	43213											
C6	729	broad.mit.edu	37	chr5	41149516	41149516	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatttctcagccaaaaacTtacaagcgggtgaagtaaag	8	8	1	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr5:41149516T>G	uc003jmk.2	-	17	2660	c.2450A>C	c.(2449-2451)AAG>ACG	p.K817T	C6_uc003jml.1_Missense_Mutation_p.K817T	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	817	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.K817R(1)		ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGCCAAAAACTTACAAGCGGG	0.423													G	41149516	T	G	41149516	3	3	56	1	0	0	0	0	1	0	0	0	2315	1609	56	5	362	5	C6	5	41149516	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	40311961	41149516	139765744	70	43214											
MAP1B	4131	broad.mit.edu	37	chr5	71495786	71495786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaaacacatggacccacctCcagctcccgtgcaagaccgc	7	18	0	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr5:71495786C>T	uc003kbw.3	+	5	6845	c.6604C>T	c.(6604-6606)CCA>TCA	p.P2202S	MAP1B_uc010iyw.1_Missense_Mutation_p.P2219S|MAP1B_uc010iyx.1_Missense_Mutation_p.P2076S|MAP1B_uc010iyy.1_Missense_Mutation_p.P2076S	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2202						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGACCCACCTCCAGCTCCCGT	0.587													T	71495786	C	T	71495786	3	4	56	1	0	0	0	0	1	0	0	0	9228	855	30	4	6622	4	MAP1B	5	71495786	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	30346270	71495786	109419474	71	43215											
SLCO6A1	133482	broad.mit.edu	37	chr5	101834337	101834337	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcttggaaactgaggacTtggcttttttcctttttcgg	10	8	1	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr5:101834337T>C	uc003knn.2	-	1	384	c.212A>G	c.(211-213)AAG>AGG	p.K71R	SLCO6A1_uc003kno.2_Missense_Mutation_p.K71R|SLCO6A1_uc003knp.2_Missense_Mutation_p.K71R|SLCO6A1_uc003knq.2_Missense_Mutation_p.K71R	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	71	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AACTGAGGACTTGGCTTTTTT	0.517													C	101834337	T	C	101834337	3	2	56	1	0	0	0	0	1	0	0	0	14732	1609	56	3	1999	3	SLCO6A1	5	101834337	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	30338551	101834337	79080923	72	43216											
PCDHAC2	56134	broad.mit.edu	37	chr5	140306936	140306937	+	In_Frame_Ins	INS	-	-	GGG													atgcccaagatgacgacgagINSggaagcaatgggatactaag							TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr5:140306935_140306936A>AGGG	uc003lih.2	+	0	634_635	c.458_459A>AGGG	c.(457-459)gag>gAGGG	p.E153E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_In_Frame_Ins_p.E153E	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	177	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGACGACGAGGGAAGCAATG	0.594													GGG	140306937	-	GGG	140306936	7	5	56	1	0	1	1	0	0	0	0	0	11533	991	35	0		0	PCDHAC2	5	140306936	In_Frame_Ins	INS	-	TCGA-BR-7901-01A-11D-2201-08	38472599	140306936	40608324	73	43217											
PCDHB7	56129	broad.mit.edu	37	chr5	140553947	140553947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccatcaacgcggacaacGgccacctgtttgccctcagg	9	16	3	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr5:140553947G>A	uc003lit.2	+	1	1705	c.1531G>A	c.(1531-1533)GGC>AGC	p.G511S		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	511	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCGGACAACGGCCACCTGTT	0.692													A	140553947	G	A	140553947	3	1	56	1	0	0	0	0	1	0	0	0	11547	1116	39	1	1533	1	PCDHB7	5	140553947	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	247011	140553947	40361313	74	43218											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171766824	171766824	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgggtctcgacgcgttgcTcgtcttcttgtacttgtcaa	11	10	4	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr5:171766824T>C	uc003mbr.2	-	13	1456	c.1285A>G	c.(1285-1287)AGC>GGC	p.S429G		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	429					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GACGCGTTGCTCGTCTTCTTG	0.582													C	171766824	T	C	171766824	3	2	56	1	0	0	0	0	1	0	0	0	14257	1551	54	3	1454	3	SH3PXD2B	5	171766824	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	31212877	171766824	9148436	75	43219											
HIST1H3G	8355	broad.mit.edu	37	chr6	26271499	26271499	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgggacggtagcgatgaggTttcttcacgccgccggtggc	16	12	2	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr6:26271499T>C	uc003nhi.2	-	1	114	c.114A>G	c.(112-114)AAA>AAG	p.K38K	uc003nhj.2_5'Flank|HIST1H2BI_uc003nhk.2_5'Flank	NM_003534	NP_003525	P68431	H31_HUMAN	H3 histone family, member H	38					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0						AGCGATGAGGTTTCTTCACGC	0.647													C	26271499	T	C	26271499	2	2	56	1	0	0	0	0	0	0	0	1	7161	1722	60	3		3	HIST1H3G	6	26271499	Silent	SNP	T	TCGA-BR-7901-01A-11D-2201-08		26271499	144843568	76	43220											
ZNF323	64288	broad.mit.edu	37	chr6	28294500	28294500	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttctgccttgctgtctcGtttacaagtttctctgtact	6	11	3	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr6:28294500G>A	uc003nla.2	-	4	1064	c.664C>T	c.(664-666)CGA>TGA	p.R222*	ZNF323_uc003nld.2_Nonsense_Mutation_p.R222*|ZNF323_uc010jra.2_Nonsense_Mutation_p.R222*|ZNF323_uc003nlb.2_Nonsense_Mutation_p.R63*|ZNF323_uc010jrb.2_Nonsense_Mutation_p.R63*|ZNF323_uc003nlc.2_Nonsense_Mutation_p.R222*	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN	zinc finger protein 323	222					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						TTGCTGTCTCGTTTACAAGTT	0.423													A	28294500	G	A	28294500	4	1	56	1	0	0	0	0	0	1	0	0	17840	1153	40	1	560	1	ZNF323	6	28294500	Nonsense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	2023001	28294500	142820567	77	43221											
OR2W1	26692	broad.mit.edu	37	chr6	29012626	29012626	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaggagaaggcactcaacTgagcccaaccacatgtaaac	9	13	1	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr6:29012626T>C	uc003nlw.2	-	1	327	c.327A>G	c.(325-327)TCA>TCG	p.S109S		NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W,	109	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						GGCACTCAACTGAGCCCAACC	0.438													C	29012626	T	C	29012626	2	2	56	1	0	0	0	0	0	0	0	1	11032	1567	55	3		3	OR2W1	6	29012626	Silent	SNP	T	TCGA-BR-7901-01A-11D-2201-08	718126	29012626	142102441	78	43222											
TFEB	7942	broad.mit.edu	37	chr6	41655662	41655662	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtacctgtgagctctcgcttCtgggtcaggtccgcagggca	14	12	3	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr6:41655662C>T	uc003oqs.1	-	6	956	c.654G>A	c.(652-654)CAG>CAA	p.Q218Q	TFEB_uc003oqt.1_Silent_p.Q218Q|TFEB_uc003oqu.1_Silent_p.Q232Q|TFEB_uc003oqv.1_Silent_p.Q218Q|TFEB_uc010jxo.1_Silent_p.Q218Q|TFEB_uc003oqr.1_Silent_p.Q133Q	NM_007162	NP_009093	P19484	TFEB_HUMAN	transcription factor EB	218					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GCTCTCGCTTCTGGGTCAGGT	0.498			T	ALPHA	renal (childhood epithelioid)								T	41655662	C	T	41655662	2	4	56	1	0	0	0	0	0	0	0	1	15798	912	32	4		4	TFEB	6	41655662	Silent	SNP	C	TCGA-BR-7901-01A-11D-2201-08	12643036	41655662	129459405	79	43223											
RUNX2	860	broad.mit.edu	37	chr6	45514583	45514583	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcttcagaactgggcccTttttcagaccccaggcagtt	11	12	2	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr6:45514583T>C	uc011dvx.1	+	9	1317	c.1107T>C	c.(1105-1107)CCT>CCC	p.P369P	RUNX2_uc011dvy.1_Silent_p.P347P|RUNX2_uc003oxt.2_Silent_p.P355P	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	runt-related transcription factor 2 isoform a	369	Interaction with MYST3 (By similarity).|Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3						AACTGGGCCCTTTTTCAGACC	0.413													C	45514583	T	C	45514583	2	2	56	1	0	0	0	0	0	0	0	1	13748	1596	56	3		3	RUNX2	6	45514583	Silent	SNP	T	TCGA-BR-7901-01A-11D-2201-08	3858921	45514583	125600484	80	43224											
IMPG1	3617	broad.mit.edu	37	chr6	76712691	76712691	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggggttcaacaggaggaAgttctggactcaaagtagca	14	7	3	0	rs41269327	by1000genomes	TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr6:76712691A>C	uc003pik.1	-	12	1365	c.1235T>G	c.(1234-1236)CTT>CGT	p.L412R		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	412					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AACAGGAGGAAGTTCTGGACT	0.428													C	76712691	A	C	76712691	3	2	56	1	0	0	0	0	1	0	0	0	7728	72	3	5	1182	5	IMPG1	6	76712691	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	31198108	76712691	94402376	81	43225											
DOPEY1	23033	broad.mit.edu	37	chr6	83806789	83806789	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaagaattttgaatactcCagtgaatgggcagatttgat	9	5	0	5			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr6:83806789C>T	uc003pjs.1	+	3	353	c.93C>T	c.(91-93)TCC>TCT	p.S31S	DOPEY1_uc011dyy.1_Silent_p.S31S|DOPEY1_uc010kbl.1_Silent_p.S31S	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	31					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTGAATACTCCAGTGAATGGG	0.353													T	83806789	C	T	83806789	2	4	56	1	0	0	0	0	0	0	0	1	4707	581	21	4		4	DOPEY1	6	83806789	Silent	SNP	C	TCGA-BR-7901-01A-11D-2201-08	7094098	83806789	87308278	82	43226											
PRDM13	59336	broad.mit.edu	37	chr6	100054924	100054924	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcaacaatgcacggagccgCcagagcgccagccaccagcg	13	16	0	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr6:100054924C>G	uc003pqg.1	+	1	275	c.14C>G	c.(13-15)GCC>GGC	p.A5G		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	5	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CACGGAGCCGCCAGAGCGCCA	0.687													G	100054924	C	G	100054924	3	3	56	1	0	0	0	0	1	0	0	0	12454	739	26	5	16	5	PRDM13	6	100054924	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	16248135	100054924	71060143	83	43227											
C6orf204	387119	broad.mit.edu	37	chr6	118886759	118886759	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgccaaggagctaaactgTaagaatcctctgtatttcta	8	8	2	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr6:118886759T>G	uc003pxz.1	-	3	1541	c.953A>C	c.(952-954)TAC>TCC	p.Y318S	C6orf204_uc003pya.1_Missense_Mutation_p.Y321S|C6orf204_uc003pyb.2_Missense_Mutation_p.Y318S|C6orf204_uc011ebj.1_Missense_Mutation_p.Y216S|C6orf204_uc003pyc.2_Missense_Mutation_p.Y321S|C6orf204_uc011ebl.1_Missense_Mutation_p.Y216S	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	318						centrosome				breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)		AGCTAAACTGTAAGAATCCTC	0.463													G	118886759	T	G	118886759	3	3	56	1	0	0	0	0	1	0	0	0	2353	1638	57	5	1562	5	C6orf204	6	118886759	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	18831835	118886759	52228308	84	43228											
RNF217	154214	broad.mit.edu	37	chr6	125397989	125397989	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatttaaggagattagtgCgagggtcagtctgtggtgag	15	5	3	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr6:125397989C>T	uc003pzs.2	+	6	930	c.592C>T	c.(592-594)CGA>TGA	p.R198*	RNF217_uc003pzr.2_Nonsense_Mutation_p.R255*|RNF217_uc003pzt.2_RNA	NM_152553	NP_689766	Q8TC41	RN217_HUMAN	ring finger protein 217	198					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		GAGATTAGTGCGAGGGTCAGT	0.448													T	125397989	C	T	125397989	4	4	56	1	0	0	0	0	0	1	0	0	13481	760	27	1	606	1	RNF217	6	125397989	Nonsense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	6511230	125397989	45717078	85	43229											
EYA4	2070	broad.mit.edu	37	chr6	133769263	133769263	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcaggggaaaacatgactGttttaaacacagcagactgg	10	8	1	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr6:133769263G>T	uc003qec.3	+	5	681	c.223G>T	c.(223-225)GTT>TTT	p.V75F	EYA4_uc011ecq.1_Intron|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Missense_Mutation_p.V75F|EYA4_uc003qee.3_Intron|EYA4_uc011ecs.1_Missense_Mutation_p.V75F|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	75					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AAACATGACTGTTTTAAACAC	0.433													T	133769263	G	T	133769263	3	4	56	1	0	0	0	0	1	0	0	0	5331	1377	48	5	237	5	EYA4	6	133769263	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	8371274	133769263	37345804	86	43230											
CITED2	10370	broad.mit.edu	37	chr6	139694714	139694714	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggggtgatggttgaaaTactggttgttgagcttctgc	16	4	1	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr6:139694714T>A	uc003qip.1	-	2	612	c.368A>T	c.(367-369)TAT>TTT	p.Y123F		NM_006079	NP_006070	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with	123					adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity				0	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		ATGGTTGAAATACTGGTTGTT	0.597													A	139694714	T	A	139694714	3	1	56	1	0	0	0	0	1	0	0	0	3440	1406	49	5	448	5	CITED2	6	139694714	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	5925451	139694714	31420353	87	43231											
GPER	2852	broad.mit.edu	37	chr7	1132151	1132151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgctccgcatgatcctcGcggtggtgctggtcttcttc	13	13	2	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr7:1132151G>A	uc010ksd.1	+	2	1176	c.787G>A	c.(787-789)GCG>ACG	p.A263T	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.A263T|GPER_uc003ska.1_Missense_Mutation_p.A263T|GPER_uc003skb.2_Missense_Mutation_p.A263T	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	263	Helical; Name=6; (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		CATGATCCTCGCGGTGGTGCT	0.687													A	1132151	G	A	1132151	3	1	56	1	0	0	0	0	1	0	0	0	6607	1087	38	1	789	1	GPER	7	1132151	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08		1132151	158006512	88	43232											
TRA2A	29896	broad.mit.edu	37	chr7	23547125	23547125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgaattcttctaccatcCagctccattccatttgccct	3	17	2	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr7:23547125C>T	uc003swi.2	-	5	769	c.555G>A	c.(553-555)CTG>CTA	p.L185L	TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_Silent_p.L84L|TRA2A_uc011jzd.1_Silent_p.L84L	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	transformer-2 alpha	185	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			ovary(1)	1						TTCTACCATCCAGCTCCATTC	0.413													T	23547125	C	T	23547125	2	4	56	1	0	0	0	0	0	0	0	1	16430	581	21	4		4	TRA2A	7	23547125	Silent	SNP	C	TCGA-BR-7901-01A-11D-2201-08	22414974	23547125	135591538	89	43233											
GLI3	2737	broad.mit.edu	37	chr7	42004358	42004358	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catagaactgaccagagtaaTtctgcagattagagcacagc	9	9	1	5			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr7:42004358T>G	uc011kbh.1	-	15	4404	c.4313A>C	c.(4312-4314)AAT>ACT	p.N1438T	GLI3_uc011kbg.1_Missense_Mutation_p.N1379T	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1438					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						ACCAGAGTAATTCTGCAGATT	0.517									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				G	42004358	T	G	42004358	3	3	56	1	0	0	0	0	1	0	0	0	6439	1493	52	5	433	5	GLI3	7	42004358	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	18457233	42004358	117134305	90	43234											
ADCY1	107	broad.mit.edu	37	chr7	45701777	45701777	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgttcaaggccgagatcccCttctccaatgtcatgacctg	8	13	3	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr7:45701777C>A	uc003tne.3	+	8	1587	c.1569C>A	c.(1567-1569)CCC>CCA	p.P523P	ADCY1_uc003tnd.2_Silent_p.P298P	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	523	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCGAGATCCCCTTCTCCAATG	0.512													A	45701777	C	A	45701777	2	1	56	1	0	0	0	0	0	0	0	1	292	668	24	5		5	ADCY1	7	45701777	Silent	SNP	C	TCGA-BR-7901-01A-11D-2201-08	3697419	45701777	113436886	91	43235											
PKD1L1	168507	broad.mit.edu	37	chr7	47886579	47886579	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcggatccactggaaatgtActgtatagttcactgcctta	8	9	1	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr7:47886579A>G	uc003tny.1	-	32	5051	c.5051T>C	c.(5050-5052)GTA>GCA	p.V1684A		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1684	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						CTGGAAATGTACTGTATAGTT	0.423													G	47886579	A	G	47886579	3	3	56	1	0	0	0	0	1	0	0	0	11964	391	14	3	3602	3	PKD1L1	7	47886579	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	2184802	47886579	111252084	92	43236											
ZPBP	11055	broad.mit.edu	37	chr7	50070871	50070871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagctgcatgatatcgagCtgtgaactgataataataat	11	5	0	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr7:50070871C>T	uc003tou.2	-	5	593	c.523G>A	c.(523-525)GCT>ACT	p.A175T	ZPBP_uc011kci.1_Missense_Mutation_p.A101T|ZPBP_uc010kyw.2_Missense_Mutation_p.A174T	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein isoform 1	175					binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)					TGATATCGAGCTGTGAACTGA	0.313													T	50070871	C	T	50070871	3	4	56	1	0	0	0	0	1	0	0	0	18216	797	28	2	548	2	ZPBP	7	50070871	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	2184292	50070871	109067792	93	43237											
ZNF479	90827	broad.mit.edu	37	chr7	57187980	57187980	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccacattcttcacatgtgTagggtttctctccagtatga	9	10	3	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr7:57187980T>C	uc010kzo.2	-	5	1413	c.1142A>G	c.(1141-1143)TAC>TGC	p.Y381C		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	381	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCACATGTGTAGGGTTTCTC	0.443													C	57187980	T	C	57187980	3	2	56	1	0	0	0	0	1	0	0	0	17930	1638	57	3	436	3	ZNF479	7	57187980	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	7117109	57187980	101950683	94	43238											
TBL2	26608	broad.mit.edu	37	chr7	72984996	72984996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttgtgaaacagccgcacCgcccggtccccacaggaggc	13	15	0	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr7:72984996C>T	uc003tyh.2	-	7	1319	c.1185G>A	c.(1183-1185)GCG>GCA	p.A395A	TBL2_uc011kex.1_Silent_p.A359A|TBL2_uc010lbg.2_Silent_p.A300A|TBL2_uc003tyi.2_Silent_p.A230A|TBL2_uc011key.1_Silent_p.A266A|TBL2_uc010lbh.2_Silent_p.A300A	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	395	WD 7.										0		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACAGCCGCACCGCCCGGTCCC	0.637													T	72984996	C	T	72984996	2	4	56	1	0	0	0	0	0	0	0	1	15639	639	23	1		1	TBL2	7	72984996	Silent	SNP	C	TCGA-BR-7901-01A-11D-2201-08	15797016	72984996	86153667	95	43239											
SEMA3D	223117	broad.mit.edu	37	chr7	84727149	84727149	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatttttgtttaagtcaaccAgactgagtagaaagatgtgg	10	4	1	4			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr7:84727149A>T	uc003uic.2	-	2	324	c.284T>A	c.(283-285)CTG>CAG	p.L95Q	SEMA3D_uc010led.2_Missense_Mutation_p.L95Q|SEMA3D_uc010lee.1_Missense_Mutation_p.L95Q	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	95	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						TAAGTCAACCAGACTGAGTAG	0.358													T	84727149	A	T	84727149	3	4	56	1	0	0	0	0	1	0	0	0	14027	188	7	5	2113	5	SEMA3D	7	84727149	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	11742153	84727149	74411514	96	43240											
ABCB1	5243	broad.mit.edu	37	chr7	87179355	87179355	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttatggtcctaatatcctGtccatcaacactgacctgga	6	11	1	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr7:87179355G>A	uc003uiz.1	-	14	1784	c.1366C>T	c.(1366-1368)CAG>TAG	p.Q456*	ABCB1_uc011khc.1_Nonsense_Mutation_p.Q392*	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	456	ABC transporter 1.|Cytoplasmic (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTAATATCCTGTCCATCAACA	0.403													A	87179355	G	A	87179355	4	1	56	1	0	0	0	0	0	1	0	0	40	1386	48	4	2540	4	ABCB1	7	87179355	Nonsense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	2452206	87179355	71959308	97	43241											
COL1A2	1278	broad.mit.edu	37	chr7	94039585	94039585	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccagctggctccaaaggagAgagcggtaacaagggtgagc	15	9	0	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr7:94039585A>T	uc003ung.1	+	20	1538	c.1067A>T	c.(1066-1068)GAG>GTG	p.E356V	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	356					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCAAAGGAGAGAGCGGTAAC	0.428										HNSCC(75;0.22)			T	94039585	A	T	94039585	3	4	56	1	0	0	0	0	1	0	0	0	3678	304	11	5	1145	5	COL1A2	7	94039585	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	6860230	94039585	65099078	98	43242											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432038	117432038	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcggtgggaggggcagcGttactgggaagtgggggtgt	23	4	0	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr7:117432038G>A	uc003vjf.2	-	4	1304	c.1212C>T	c.(1210-1212)AAC>AAT	p.N404N		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	404	Pro-rich.									ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GAGGGGCAGCGTTACTGGGAA	0.532													A	117432038	G	A	117432038	2	1	56	1	0	0	0	0	0	0	0	1	4045	1136	40	1		1	CTTNBP2	7	117432038	Silent	SNP	G	TCGA-BR-7901-01A-11D-2201-08	23392453	117432038	41706625	99	43243											
NRG1	3084	broad.mit.edu	37	chr8	32599561	32599561	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactggagcaagatgtactgAgaatgtgcccatgaaagtcc	11	9	0	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr8:32599561A>G	uc003xiv.2	+	7	1185	c.668A>G	c.(667-669)GAG>GGG	p.E223G	NRG1_uc003xip.2_Intron|NRG1_uc010lvn.2_Intron|NRG1_uc003xis.2_Intron|NRG1_uc011lbf.1_Intron|NRG1_uc010lvo.2_Intron|NRG1_uc003xiu.2_Intron|NRG1_uc003xiw.2_Intron|NRG1_uc003xit.2_Missense_Mutation_p.E223G|NRG1_uc010lvr.2_Intron|NRG1_uc010lvs.2_Intron|NRG1_uc010lvp.2_Intron|NRG1_uc010lvq.2_Intron|NRG1_uc003xix.2_Missense_Mutation_p.E113G|NRG1_uc003xiy.2_Intron|NRG1_uc010lvt.2_Intron|NRG1_uc011lbg.1_Missense_Mutation_p.E69G|NRG1_uc011lbh.1_Intron|NRG1_uc003xiz.1_RNA|NRG1_uc003xja.2_Missense_Mutation_p.E26G	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	223	Extracellular (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGATGTACTGAGAATGTGCCC	0.413													G	32599561	A	G	32599561	3	3	56	1	0	0	0	0	1	0	0	0	10647	304	11	3	2164	3	NRG1	8	32599561	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08		32599561	113764461	100	43244											
PREX2	80243	broad.mit.edu	37	chr8	68931899	68931899	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagtgggaacctgctttcTtcactttgtaggataaattt	9	6	2	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr8:68931899T>C	uc003xxv.1	+	3	356	c.329T>C	c.(328-330)CTT>CCT	p.L110P	PREX2_uc003xxu.1_Missense_Mutation_p.L110P|PREX2_uc011lez.1_Intron	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	110	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						ACCTGCTTTCTTCACTTTGTA	0.353													C	68931899	T	C	68931899	3	2	56	1	0	0	0	0	1	0	0	0	12477	1609	56	3	339	3	PREX2	8	68931899	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	36332338	68931899	77432123	101	43245											
PREX2	80243	broad.mit.edu	37	chr8	69069612	69069612	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtttctgtggaagaattTcaagctcagataaatgcagc	9	6	3	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr8:69069612T>C	uc003xxv.1	+	35	4314	c.4287T>C	c.(4285-4287)TTT>TTC	p.F1429F		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1429					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						TGGAAGAATTTCAAGCTCAGA	0.348													C	69069612	T	C	69069612	2	2	56	1	0	0	0	0	0	0	0	1	12477	1780	62	3		3	PREX2	8	69069612	Silent	SNP	T	TCGA-BR-7901-01A-11D-2201-08	137713	69069612	77294410	102	43246											
TPD52	7163	broad.mit.edu	37	chr8	80954873	80954873	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctttaagttttcgaccttTtcttcaaatgatttaaaagt	5	7	2	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr8:80954873T>C	uc003ybr.1	-	5	859	c.537A>G	c.(535-537)GAA>GAG	p.E179E	TPD52_uc010lzr.2_RNA|TPD52_uc010lzs.1_RNA|TPD52_uc003ybs.1_Silent_p.E162E|TPD52_uc003ybt.1_Silent_p.E139E|TPD52_uc003ybq.1_RNA|TPD52_uc003ybu.1_RNA	NM_001025252	NP_001020423	P55327	TPD52_HUMAN	tumor protein D52 isoform 1	179					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			ovary(1)	1	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			TTTCGACCTTTTCTTCAAATG	0.308													C	80954873	T	C	80954873	2	2	56	1	0	0	0	0	0	0	0	1	16394	1838	64	3		3	TPD52	8	80954873	Silent	SNP	T	TCGA-BR-7901-01A-11D-2201-08	11885261	80954873	65409149	103	43247											
CNBD1	168975	broad.mit.edu	37	chr8	88365898	88365898	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgtttatatggggaaacTtaaggagaaggagtcctttg	12	4	0	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr8:88365898T>C	uc003ydy.2	+	10	1235	c.1187T>C	c.(1186-1188)CTT>CCT	p.L396P		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	396	cNMP.									ovary(3)	3						ATGGGGAAACTTAAGGAGAAG	0.323													C	88365898	T	C	88365898	3	2	56	1	0	0	0	0	1	0	0	0	3591	1609	56	3	1225	3	CNBD1	8	88365898	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	7411025	88365898	57998124	104	43248											
KIAA1429	25962	broad.mit.edu	37	chr8	95539023	95539023	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaagttcaaataatccactGatcactcctgcttgtagcag	7	10	2	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr8:95539023G>A	uc003ygo.1	-	8	1462	c.1449C>T	c.(1447-1449)ATC>ATT	p.I483I	KIAA1429_uc003ygp.2_Silent_p.I483I|KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	483					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ATAATCCACTGATCACTCCTG	0.413													A	95539023	G	A	95539023	2	1	56	1	0	0	0	0	0	0	0	1	8231	1280	45	4		4	KIAA1429	8	95539023	Silent	SNP	G	TCGA-BR-7901-01A-11D-2201-08	7173125	95539023	50824999	105	43249											
ANGPT1	284	broad.mit.edu	37	chr8	108334284	108334284	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accaagccttgaaggttctcTttctcttcctttaaggtgtc	7	11	2	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr8:108334284T>G	uc003ymn.2	-	4	1116	c.648A>C	c.(646-648)AAA>AAC	p.K216N	ANGPT1_uc011lhv.1_Missense_Mutation_p.K16N|ANGPT1_uc003ymo.2_Missense_Mutation_p.K216N|ANGPT1_uc003ymp.3_Missense_Mutation_p.K16N	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	216	Potential.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GAAGGTTCTCTTTCTCTTCCT	0.368													G	108334284	T	G	108334284	3	3	56	1	0	0	0	0	1	0	0	0	610	1606	56	5	872	5	ANGPT1	8	108334284	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	12795261	108334284	38029738	106	43250											
TRPS1	7227	broad.mit.edu	37	chr8	116617214	116617214	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtccaatgccaatgaatgTtccacctgaagtcacctgga	8	13	1	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr8:116617214T>G	uc003ynz.2	-	3	1402	c.943A>C	c.(943-945)ACA>CCA	p.T315P	TRPS1_uc011lhy.1_Missense_Mutation_p.T319P|TRPS1_uc003yny.2_Missense_Mutation_p.T328P|TRPS1_uc010mcy.2_Missense_Mutation_p.T315P	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	315					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CCAATGAATGTTCCACCTGAA	0.468									Langer-Giedion_syndrome				G	116617214	T	G	116617214	3	3	56	1	0	0	0	0	1	0	0	0	16590	1725	60	5	2918	5	TRPS1	8	116617214	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	8282930	116617214	29746808	107	43251											
FAM83H	286077	broad.mit.edu	37	chr8	144812561	144812561	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaggccgaaggtgtcggctCacatgttccagctcttcagg	14	11	3	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr8:144812561C>T	uc003yzk.2	-	2	261	c.192G>A	c.(190-192)GTG>GTA	p.V64V	FAM83H_uc010mfk.1_5'Flank	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	64					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGTGTCGGCTCACATGTTCCA	0.632													T	144812561	C	T	144812561	2	4	56	1	0	0	0	0	0	0	0	1	5640	813	29	4		4	FAM83H	8	144812561	Silent	SNP	C	TCGA-BR-7901-01A-11D-2201-08	28195347	144812561	1551461	108	43252											
SPATC1	375686	broad.mit.edu	37	chr8	145096245	145096245	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cggctctacggcttcactgtCtccaacatcccagagaagat	8	14	3	2	rs17854818		TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr8:145096245C>G	uc011lkw.1	+	4	1521	c.1419C>G	c.(1417-1419)GTC>GTG	p.V473V	SPATC1_uc011lkx.1_Intron	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	473				V -> A (in Ref. 3; AAH53547).						ovary(1)|central_nervous_system(1)	2	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTTCACTGTCTCCAACATCC	0.642													G	145096245	C	G	145096245	2	3	56	1	0	0	0	0	0	0	0	1	15016	900	32	5		5	SPATC1	8	145096245	Silent	SNP	C	TCGA-BR-7901-01A-11D-2201-08	283684	145096245	1267777	109	43253											
ARHGAP39	80728	broad.mit.edu	37	chr8	145770695	145770695	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttccaggtaggagtggaacTtgggggtgggcgggaaaaag	19	5	0	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr8:145770695T>A	uc003zdt.1	-	7	3014	c.2459A>T	c.(2458-2460)AAG>ATG	p.K820M	ARHGAP39_uc011llk.1_Missense_Mutation_p.K820M|ARHGAP39_uc003zds.1_Missense_Mutation_p.K820M	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	820	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						GGAGTGGAACTTGGGGGTGGG	0.617													A	145770695	T	A	145770695	3	1	56	1	0	0	0	0	1	0	0	0	884	1609	56	5	913	5	ARHGAP39	8	145770695	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	674450	145770695	593327	110	43254											
PTPRD	5789	broad.mit.edu	37	chr9	8521544	8521544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaatcttggtgggacacggcGaactggaacaaaacacaagg	13	8	1	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr9:8521544G>A	uc003zkk.2	-	19	1405	c.694C>T	c.(694-696)CGC>TGC	p.R232C	PTPRD_uc003zkp.2_Missense_Mutation_p.R232C|PTPRD_uc003zkq.2_Missense_Mutation_p.R232C|PTPRD_uc003zkr.2_Missense_Mutation_p.R226C|PTPRD_uc003zks.2_Missense_Mutation_p.R222C|PTPRD_uc003zkl.2_Missense_Mutation_p.R232C|PTPRD_uc003zkm.2_Missense_Mutation_p.R219C|PTPRD_uc003zkn.2_Missense_Mutation_p.R232C|PTPRD_uc003zko.2_Missense_Mutation_p.R229C	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	232	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGGACACGGCGAACTGGAACA	0.448										TSP Lung(15;0.13)			A	8521544	G	A	8521544	3	1	56	1	0	0	0	0	1	0	0	0	12799	1058	37	1	5220	1	PTPRD	9	8521544	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08		8521544	132691887	111	43255											
SLC24A2	25769	broad.mit.edu	37	chr9	19786062	19786062	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaaataagctgttaagagaAgcaagctttcccaccacatg	7	9	0	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr9:19786062A>T	uc003zoa.1	-	1	865	c.803T>A	c.(802-804)CTT>CAT	p.L268H	SLC24A2_uc003zob.1_Missense_Mutation_p.L268H	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	268	Helical; (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TGTTAAGAGAAGCAAGCTTTC	0.393													T	19786062	A	T	19786062	3	4	56	1	0	0	0	0	1	0	0	0	14466	72	3	5	1222	5	SLC24A2	9	19786062	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	11264518	19786062	121427369	112	43256											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123205914	123205915	+	In_Frame_Ins	INS	-	-	TGC													gaccaatctcgtagcttcttINStgctgatcactgtccatttc							TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr9:123205914_123205915insTGC	uc004bkf.2	-	23	3312_3313	c.3131_3132insGCA	c.(3130-3132)CAA>CAGCAA	p.1044_1044Q>QQ	CDK5RAP2_uc010mvi.2_Intron|CDK5RAP2_uc004bke.2_In_Frame_Ins_p.329_329Q>QQ|CDK5RAP2_uc004bkg.2_In_Frame_Ins_p.1044_1044Q>QQ|CDK5RAP2_uc011lxw.1_In_Frame_Ins_p.309_309Q>QQ|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_In_Frame_Ins_p.309_309Q>QQ|CDK5RAP2_uc011lya.1_In_Frame_Ins_p.309_309Q>QQ|CDK5RAP2_uc004bkh.1_In_Frame_Ins_p.814_814Q>QQ|CDK5RAP2_uc004bki.2_In_Frame_Ins_p.811_811Q>QQ	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1044	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						CGTAGCTTCTTTGCTGATCACT	0.356													TGC	123205915	-	TGC	123205914	7	5	56	1	0	1	1	0	0	0	0	0	3146	1838	64	0	2613	0	CDK5RAP2	9	123205914	In_Frame_Ins	INS	-	TCGA-BR-7901-01A-11D-2201-08	103419852	123205914	18007517	113	43257	152	2									
CDK5RAP2	55755	broad.mit.edu	37	chr9	123205915	123205916	+	In_Frame_Ins	INS	-	-	TGC													accaatctcgtagcttctttINSgctgatcactgtccatttcc							TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr9:123205914_123205915T>TTGC	uc004bkf.3	-	22	3312_3313	c.3131_3132A>GCAA	c.(3130-3132)caa>cGCAA	p.Q1044R	CDK5RAP2_uc010mvi.3_Intron|CDK5RAP2_uc004bke.3_In_Frame_Ins_p.Q329R|CDK5RAP2_uc004bkg.3_In_Frame_Ins_p.Q1044R|CDK5RAP2_uc011lxw.2_In_Frame_Ins_p.Q309R|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_In_Frame_Ins_p.Q309R|CDK5RAP2_uc011lya.2_In_Frame_Ins_p.Q309R|CDK5RAP2_uc004bkh.1_In_Frame_Ins_p.Q814R|CDK5RAP2_uc004bki.3_In_Frame_Ins_p.Q811R	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	1044	Interaction with MAPRE1.				G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CGTAGCTTCTTTGCTGATCACT	0.46													TGC	123205916	-	TGC	123205915	7	5	56	1	0	1	1	0	0	0	0	0	3146	1812	63	0	2614	0	CDK5RAP2	9	123205915	In_Frame_Ins	INS	-	TCGA-BR-7901-01A-11D-2201-08	1	123205915	18007516	114	43258	152	2									
GPR21	2844	broad.mit.edu	37	chr9	125796920	125796920	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttggctatttggaaactgtCaatttttgccttttggaagt	9	5	1	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr9:125796920C>T	uc011lzk.1	+	1	75	c.75C>T	c.(73-75)GTC>GTT	p.V25V	RABGAP1_uc004bnl.3_Intron|RABGAP1_uc011lzh.1_Intron|RABGAP1_uc011lzj.1_Intron|GPR21_uc011lzi.1_RNA	NM_005294	NP_005285	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	25	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1						TGGAAACTGTCAATTTTTGCC	0.388													T	125796920	C	T	125796920	2	4	56	1	0	0	0	0	0	0	0	1	6681	813	29	4		4	GPR21	9	125796920	Silent	SNP	C	TCGA-BR-7901-01A-11D-2201-08	2591005	125796920	15416511	115	43259											
DDX31	64794	broad.mit.edu	37	chr9	135505739	135505739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatggcagccaatccgggCggttcttccaatccggtgga	12	14	1	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr9:135505739C>T	uc004cbq.1	-	16	2010	c.1858G>A	c.(1858-1860)GCC>ACC	p.A620T	DDX31_uc010mzu.1_Silent_p.P611P	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	620	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		CCAATCCGGGCGGTTCTTCCA	0.478													T	135505739	C	T	135505739	3	4	56	1	0	0	0	0	1	0	0	0	4356	768	27	1	717	1	DDX31	9	135505739	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	9708819	135505739	5707692	116	43260											
PNPLA7	375775	broad.mit.edu	37	chr9	140438250	140438250	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgttctccacaagggtGttggggagtgtggtcacctg	16	8	2	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr9:140438250G>T	uc004cnf.2	-	4	553	c.216C>A	c.(214-216)AAC>AAA	p.N72K	PNPLA7_uc010ncj.1_Missense_Mutation_p.N97K	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	72					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCACAAGGGTGTTGGGGAGTG	0.602													T	140438250	G	T	140438250	3	4	56	1	0	0	0	0	1	0	0	0	12170	1368	48	5	3861	5	PNPLA7	9	140438250	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	4932511	140438250	775181	117	43261											
WDR85	92715	broad.mit.edu	37	chr9	140468755	140468755	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccactttctgcagcctgggcCtcgtctcattcaccatcagg	8	16	4	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr9:140468755C>A	uc004cnk.1	-	5	703	c.545G>T	c.(544-546)AGG>ATG	p.R182M	WDR85_uc004cnl.1_Missense_Mutation_p.R6M|WDR85_uc004cnm.1_Translation_Start_Site|WDR85_uc004cnn.1_Intron	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN	WD repeat domain 85	182					peptidyl-diphthamide biosynthetic process from peptidyl-histidine						0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)		CAGCCTGGGCCTCGTCTCATT	0.547													A	140468755	C	A	140468755	3	1	56	1	0	0	0	0	1	0	0	0	17330	681	24	5	833	5	WDR85	9	140468755	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	30505	140468755	744676	118	43262											
ZNF248	57209	broad.mit.edu	37	chr10	38121107	38121107	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgttgagtgaggtttgaCttctcccagaaggttttccc	11	8	1	5			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr10:38121107C>T	uc001izd.1	-	6	1675	c.1176G>A	c.(1174-1176)AAG>AAA	p.K392K	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Silent_p.K392K	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	392	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGAGGTTTGACTTCTCCCAGA	0.458													T	38121107	C	T	38121107	2	4	56	1	0	0	0	0	0	0	0	1	17790	564	20	4		4	ZNF248	10	38121107	Silent	SNP	C	TCGA-BR-7901-01A-11D-2201-08		38121107	97413640	119	43263											
DNTT	1791	broad.mit.edu	37	chr10	98087281	98087281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggcagaagcagaggccGtcagtgtgctggttaaagag	16	8	1	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr10:98087281G>A	uc001kmf.2	+	7	1101	c.931G>A	c.(931-933)GTC>ATC	p.V311I	DNTT_uc001kmg.2_Missense_Mutation_p.V311I	NM_004088	NP_004079	P04053	TDT_HUMAN	terminal deoxynucleotidyltransferase isoform 1	311	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(1)	1		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		AGCAGAGGCCGTCAGTGTGCT	0.517													A	98087281	G	A	98087281	3	1	56	1	0	0	0	0	1	0	0	0	4680	1145	40	1	957	1	DNTT	10	98087281	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	59966174	98087281	37447466	120	43264											
PDCD11	22984	broad.mit.edu	37	chr10	105199528	105199528	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcccctccgttgtgggtttgGctcggtactcccatgtctcc	11	15	1	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr10:105199528G>C	uc001kwy.1	+	28	4138	c.4051G>C	c.(4051-4053)GCT>CCT	p.A1351P		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1351	S1 motif 12.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGTGGGTTTGGCTCGGTACTC	0.552													C	105199528	G	C	105199528	3	2	56	1	0	0	0	0	1	0	0	0	11617	1203	42	5	4157	5	PDCD11	10	105199528	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	7112247	105199528	30335219	121	43265											
SORCS3	22986	broad.mit.edu	37	chr10	106401694	106401694	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaccaagccatggtgcactgGtcgggacacaacagcagcgt	12	12	0	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr10:106401694G>C	uc001kyi.1	+	1	836	c.609G>C	c.(607-609)TGG>TGC	p.W203C		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	203	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGGTGCACTGGTCGGGACACA	0.701													C	106401694	G	C	106401694	3	2	56	1	0	0	0	0	1	0	0	0	14932	1270	44	5	611	5	SORCS3	10	106401694	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	1202166	106401694	29133053	122	43266											
GPAM	57678	broad.mit.edu	37	chr10	113917086	113917086	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttctccaagacaaaggttctGgaagcttcttgtcccactgc	8	12	3	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr10:113917086G>C	uc009xxy.1	-	19	2240	c.2042C>G	c.(2041-2043)CCA>CGA	p.P681R	GPAM_uc001kzp.2_Missense_Mutation_p.P681R|GPAM_uc001kzq.1_Missense_Mutation_p.P681R	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	681	Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential).				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			ovary(1)|skin(1)	2				Epithelial(162;0.0306)|all cancers(201;0.123)		CAAAGGTTCTGGAAGCTTCTT	0.458													C	113917086	G	C	113917086	3	2	56	1	0	0	0	0	1	0	0	0	6588	1348	47	5	460	5	GPAM	10	113917086	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	7515392	113917086	21617661	123	43267											
DCLRE1A	9937	broad.mit.edu	37	chr10	115605541	115605541	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgcacatgaagcttgtTcttcaacaaattgccagtta	6	9	3	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr10:115605541T>A	uc001law.2	-	4	3199	c.2281A>T	c.(2281-2283)AAC>TAC	p.N761Y		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	761					cell division|mitosis	nucleus	hydrolase activity			skin(2)	2				Epithelial(162;0.0157)|all cancers(201;0.0171)		TGAAGCTTGTTCTTCAACAAA	0.358								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	115605541	T	A	115605541	3	1	56	1	0	0	0	0	1	0	0	0	4294	1783	62	5	865	5	DCLRE1A	10	115605541	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	1688455	115605541	19929206	124	43268											
IFITM1	8519	broad.mit.edu	37	chr11	314303	314303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggtccctgttcaacaccCtcttcttgaactggtgctgt	8	13	4	1	rs11552362		TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr11:314303C>T	uc001loy.3	+	1	313	c.133C>T	c.(133-135)CTC>TTC	p.L45F		NM_003641	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	45	Helical; (Potential).				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity				0		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTTCAACACCCTCTTCTTGAA	0.617													T	314303	C	T	314303	3	4	56	1	0	0	0	0	1	0	0	0	7526	681	24	4	135	4	IFITM1	11	314303	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08		314303	134692213	125	43269											
OR51L1	119682	broad.mit.edu	37	chr11	5020810	5020810	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgccaggaccaacagtattTatgggctttgtgtagtcatt	10	7	1	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr11:5020810T>C	uc010qyu.1	+	1	598	c.598T>C	c.(598-600)TAT>CAT	p.Y200H		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L,	200	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAACAGTATTTATGGGCTTTG	0.428													C	5020810	T	C	5020810	3	2	56	1	0	0	0	0	1	0	0	0	11102	1754	61	3	600	3	OR51L1	11	5020810	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	4706507	5020810	129985706	126	43270											
OR10A5	144124	broad.mit.edu	37	chr11	6867680	6867680	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctctcttttctatatatcttCtagcctcacctacttctggc	3	14	6	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr11:6867680C>G	uc001met.1	+	1	767	c.767C>G	c.(766-768)TCT>TGT	p.S256C		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A,	256	Helical; Name=6; (Potential).			S -> L (in Ref. 4; AAC70019).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TATATATCTTCTAGCCTCACC	0.433													G	6867680	C	G	6867680	3	3	56	1	0	0	0	0	1	0	0	0	10893	913	32	5	769	5	OR10A5	11	6867680	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	1846870	6867680	128138836	127	43271											
OR10A5	144124	broad.mit.edu	37	chr11	6867694	6867694	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcttctagcctcacctacTtctggcctaaatcaaataat	3	12	5	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr11:6867694T>G	uc001met.1	+	1	781	c.781T>G	c.(781-783)TTC>GTC	p.F261V		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTCACCTACTTCTGGCCTAA	0.423													G	6867694	T	G	6867694	3	3	56	1	0	0	0	0	1	0	0	0	10893	1609	56	5	783	5	OR10A5	11	6867694	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	14	6867694	128138822	128	43272											
OVCH2	341277	broad.mit.edu	37	chr11	7718031	7718031	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgggtctgtcttctaaAgaatacattgacaggtaact	8	8	3	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr11:7718031A>T	uc010rbf.1	-	10	1122	c.1122T>A	c.(1120-1122)TCT>TCA	p.S374S		NM_198185	NP_937828			ovochymase 2 precursor												0				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		TGTCTTCTAAAGAATACATTG	0.458													T	7718031	A	T	7718031	2	4	56	1	0	0	0	0	0	0	0	1	11324	59	3	5		5	OVCH2	11	7718031	Silent	SNP	A	TCGA-BR-7901-01A-11D-2201-08	850337	7718031	127288485	129	43273											
NELL1	4745	broad.mit.edu	37	chr11	20948910	20948910	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgtcattgtgagaagacTtgtcaagtgagtggactgct	12	6	2	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr11:20948910T>G	uc001mqe.2	+	8	969	c.816T>G	c.(814-816)ACT>ACG	p.T272T	NELL1_uc001mqf.2_Silent_p.T272T|NELL1_uc009yid.2_Silent_p.T300T|NELL1_uc010rdo.1_Silent_p.T215T|NELL1_uc010rdp.1_Silent_p.T32T	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	272	VWFC 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						GTGAGAAGACTTGTCAAGTGA	0.383													G	20948910	T	G	20948910	2	3	56	1	0	0	0	0	0	0	0	1	10333	1596	56	5		5	NELL1	11	20948910	Silent	SNP	T	TCGA-BR-7901-01A-11D-2201-08	13230879	20948910	114057606	130	43274											
NELL1	4745	broad.mit.edu	37	chr11	20959356	20959356	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtatctatggaggaaaagTtcttgcagaaggccagcgga	13	6	2	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr11:20959356T>G	uc001mqe.2	+	10	1175	c.1022T>G	c.(1021-1023)GTT>GGT	p.V341G	NELL1_uc001mqf.2_Missense_Mutation_p.V341G|NELL1_uc009yid.2_Missense_Mutation_p.V369G|NELL1_uc010rdo.1_Missense_Mutation_p.V284G|NELL1_uc010rdp.1_Missense_Mutation_p.V101G	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	341	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						GGAGGAAAAGTTCTTGCAGAA	0.408													G	20959356	T	G	20959356	3	3	56	1	0	0	0	0	1	0	0	0	10333	1725	60	5	1060	5	NELL1	11	20959356	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	10446	20959356	114047160	131	43275											
LRRC4C	57689	broad.mit.edu	37	chr11	40136487	40136487	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actgtgacggttgaaaagtaAgagaaaggagtagtggttgc	15	3	0	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr11:40136487A>T	uc001mxa.1	-	2	3320	c.1356T>A	c.(1354-1356)TCT>TCA	p.S452S	LRRC4C_uc001mxc.1_Silent_p.S448S|LRRC4C_uc001mxd.1_Silent_p.S448S|LRRC4C_uc001mxb.1_Silent_p.S448S	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	452					regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTGAAAAGTAAGAGAAAGGAG	0.483													T	40136487	A	T	40136487	2	4	56	1	0	0	0	0	0	0	0	1	9008	59	3	5		5	LRRC4C	11	40136487	Silent	SNP	A	TCGA-BR-7901-01A-11D-2201-08	19177131	40136487	94870029	132	43276											
OR4A47	403253	broad.mit.edu	37	chr11	48511093	48511093	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtggttgtcttcttctttgTtccttgtatttttatgtatg	8	5	3	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr11:48511093T>A	uc010rhx.1	+	1	749	c.749T>A	c.(748-750)GTT>GAT	p.V250D		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	250	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TTCTTCTTTGTTCCTTGTATT	0.433													A	48511093	T	A	48511093	3	1	56	1	0	0	0	0	1	0	0	0	11042	1725	60	5	751	5	OR4A47	11	48511093	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	8374606	48511093	86495423	133	43277											
OR8H3	390152	broad.mit.edu	37	chr11	55890577	55890577	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctttctctacttgcgtctcTcatctcttgggagtcaccat	7	13	5	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr11:55890577T>A	uc001nii.1	+	1	729	c.729T>A	c.(727-729)TCT>TCA	p.S243S		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					CTTGCGTCTCTCATCTCTTGG	0.403													A	55890577	T	A	55890577	2	1	56	1	0	0	0	0	0	0	0	1	11239	1538	54	5		5	OR8H3	11	55890577	Silent	SNP	T	TCGA-BR-7901-01A-11D-2201-08	7379484	55890577	79115939	134	43278											
OR8J1	219477	broad.mit.edu	37	chr11	56127847	56127847	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggctgaccatggcagggaAcctgggcatcatcaccctca	12	13	3	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr11:56127847A>G	uc010rjh.1	+	1	125	c.125A>G	c.(124-126)AAC>AGC	p.N42S		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	42	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					ATGGCAGGGAACCTGGGCATC	0.493													G	56127847	A	G	56127847	3	3	56	1	0	0	0	0	1	0	0	0	11241	43	2	3	127	3	OR8J1	11	56127847	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	237270	56127847	78878669	135	43279											
CLP1	10978	broad.mit.edu	37	chr11	57427134	57427134	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctttgatgctggtgccaaGgtggctgttttcacttggca	12	9	1	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr11:57427134G>A	uc001nkw.2	+	2	325	c.186G>A	c.(184-186)AAG>AAA	p.K62K	CLP1_uc010rjw.1_Silent_p.K62K|CLP1_uc009yml.2_Silent_p.K62K	NM_006831	NP_006822	Q92989	CLP1_HUMAN	ATP/GTP-binding protein isoform 1	62					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			ovary(1)	1						CTGGTGCCAAGGTGGCTGTTT	0.502													A	57427134	G	A	57427134	2	1	56	1	0	0	0	0	0	0	0	1	3550	991	35	4		4	CLP1	11	57427134	Silent	SNP	G	TCGA-BR-7901-01A-11D-2201-08	1299287	57427134	77579382	136	43280											
FADS2	9415	broad.mit.edu	37	chr11	61624490	61624490	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctctcctcagtacggcaAgaagaagctgaaatacctgc	8	13	2	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr11:61624490A>G	uc001nsl.1	+	6	902	c.752A>G	c.(751-753)AAG>AGG	p.K251R	FADS2_uc001nsj.2_Missense_Mutation_p.K229R|FADS2_uc010rlo.1_Missense_Mutation_p.K220R|FADS2_uc001nsk.2_Missense_Mutation_p.K251R	NM_004265	NP_004256	O95864	FADS2_HUMAN	fatty acid desaturase 2	251	Cytoplasmic (Potential).				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			ovary(1)|pancreas(1)	2					Alpha-Linolenic Acid(DB00132)	CAGTACGGCAAGAAGAAGCTG	0.572													G	61624490	A	G	61624490	3	3	56	1	0	0	0	0	1	0	0	0	5366	72	3	3	774	3	FADS2	11	61624490	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	4197356	61624490	73382026	137	43281											
RBM4	5936	broad.mit.edu	37	chr11	66411193	66411193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagcgctgccgtgctgccCggtcctatgaggcagtggca	14	13	0	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr11:66411193C>T	uc009yrj.2	+	3	1173	c.685C>T	c.(685-687)CGG>TGG	p.R229W	RBM4_uc009yrk.2_Missense_Mutation_p.R204W|RBM4_uc001oiw.1_Missense_Mutation_p.R229W|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Missense_Mutation_p.R229W|RBM4_uc001oiz.1_Missense_Mutation_p.R229W	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	229	Interaction with TNPO3.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CCGTGCTGCCCGGTCCTATGA	0.567													T	66411193	C	T	66411193	3	4	56	1	0	0	0	0	1	0	0	0	13134	643	23	1	691	1	RBM4	11	66411193	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	4786703	66411193	68595323	138	43282											
P2RY6	5031	broad.mit.edu	37	chr11	73008014	73008014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggctagtgtgtgtagccGtgtggctggccgtgacaacc	15	11	0	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr11:73008014G>A	uc001otm.2	+	4	856	c.451G>A	c.(451-453)GTG>ATG	p.V151M	P2RY6_uc001otn.2_Missense_Mutation_p.V151M|P2RY6_uc001oto.2_Missense_Mutation_p.V151M|P2RY6_uc001otp.2_Missense_Mutation_p.V151M|P2RY6_uc001otq.2_Missense_Mutation_p.V151M|P2RY6_uc001otr.2_Missense_Mutation_p.V151M|P2RY6_uc001ots.2_Missense_Mutation_p.V151M	NM_176796	NP_789766	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y6	151	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1						GTGTGTAGCCGTGTGGCTGGC	0.667													A	73008014	G	A	73008014	3	1	56	1	0	0	0	0	1	0	0	0	11354	1145	40	1	453	1	P2RY6	11	73008014	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	6596821	73008014	61998502	139	43283											
C2CD3	26005	broad.mit.edu	37	chr11	73844002	73844002	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtctttaaaccgattcctAgaaaaggctctgatcctaag	8	9	2	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr11:73844002A>G	uc001ouu.2	-	7	1331	c.1104T>C	c.(1102-1104)TCT>TCC	p.S368S	C2CD3_uc001ouv.2_Silent_p.S368S	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	368						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					ACCGATTCCTAGAAAAGGCTC	0.403													G	73844002	A	G	73844002	2	3	56	1	0	0	0	0	0	0	0	1	2154	407	15	3		3	C2CD3	11	73844002	Silent	SNP	A	TCGA-BR-7901-01A-11D-2201-08	835988	73844002	61162514	140	43284											
HEPHL1	341208	broad.mit.edu	37	chr11	93808527	93808527	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctagtctgtaaaaagggCgtcctcaatgctgatgggac	12	8	2	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr11:93808527C>T	uc001pep.2	+	9	1849	c.1692C>T	c.(1690-1692)GGC>GGT	p.G564G	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	564	Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GTAAAAAGGGCGTCCTCAATG	0.517													T	93808527	C	T	93808527	2	4	56	1	0	0	0	0	0	0	0	1	7055	755	27	1		1	HEPHL1	11	93808527	Silent	SNP	C	TCGA-BR-7901-01A-11D-2201-08	19964525	93808527	41197989	141	43285											
ANGPTL5	253935	broad.mit.edu	37	chr11	101775550	101775550	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taccaaagttctcaccatgtGactgaacaggtctgtgagga	10	9	2	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr11:101775550G>A	uc001pgl.2	-	5	1030	c.434C>T	c.(433-435)TCA>TTA	p.S145L		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5 precursor	145	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		CTCACCATGTGACTGAACAGG	0.353													A	101775550	G	A	101775550	3	1	56	1	0	0	0	0	1	0	0	0	617	1294	45	4	752	4	ANGPTL5	11	101775550	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	7967023	101775550	33230966	142	43286											
DYNC2H1	79659	broad.mit.edu	37	chr11	103152957	103152957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagacatgttacggaaagCtgtaagttaaaataacaaaa	9	4	0	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr11:103152957C>T	uc001pho.2	+	72	10955	c.10811C>T	c.(10810-10812)GCT>GTT	p.A3604V	DYNC2H1_uc001phn.1_Missense_Mutation_p.A3611V|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3604					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTACGGAAAGCTGTAAGTTAA	0.294													T	103152957	C	T	103152957	3	4	56	1	0	0	0	0	1	0	0	0	4846	811	28	2	11122	2	DYNC2H1	11	103152957	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	1377407	103152957	31853559	143	43287											
TTC12	54970	broad.mit.edu	37	chr11	113235630	113235630	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacgctgccctctgccttggTaactgcatggaggtgcccaa	11	13	1	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr11:113235630T>G	uc001pnu.2	+	21	1995	c.1890T>G	c.(1888-1890)GGT>GGG	p.G630G	TTC12_uc001pnv.2_Silent_p.G636G|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Silent_p.G480G	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	630							binding	p.G630D(1)		pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TCTGCCTTGGTAACTGCATGG	0.542													G	113235630	T	G	113235630	2	3	56	1	0	0	0	0	0	0	0	1	16676	1625	57	5		5	TTC12	11	113235630	Silent	SNP	T	TCGA-BR-7901-01A-11D-2201-08	10082673	113235630	21770886	144	43288											
ARHGEF12	23365	broad.mit.edu	37	chr11	120348905	120348905	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaccttaatatcgtcaaaAcctcagtctcattcactgag	4	12	5	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr11:120348905A>C	uc001pxl.1	+	37	3580	c.3573A>C	c.(3571-3573)AAA>AAC	p.K1191N	ARHGEF12_uc009zat.2_Missense_Mutation_p.K1172N|ARHGEF12_uc009zau.1_Missense_Mutation_p.K1088N	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1191					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TATCGTCAAAACCTCAGTCTC	0.388			T	MLL	AML								C	120348905	A	C	120348905	3	2	56	1	0	0	0	0	1	0	0	0	897	40	2	5	3719	5	ARHGEF12	11	120348905	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	7113275	120348905	14657611	145	43289											
CASC1	55259	broad.mit.edu	37	chr12	25261681	25261681	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccttgatcttcagtcttTgtgctctgtcaccactaaac	5	13	5	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr12:25261681T>C	uc001rgl.2	-	15	2034	c.1952A>G	c.(1951-1953)CAA>CGA	p.Q651R	CASC1_uc001rgk.2_Missense_Mutation_p.Q657R|CASC1_uc001rgm.3_3'UTR|CASC1_uc001rgj.2_Missense_Mutation_p.Q611R|CASC1_uc010sje.1_Missense_Mutation_p.Q592R|CASC1_uc010sjf.1_3'UTR	NM_001082973	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1 isoform b	651										ovary(2)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			CTTCAGTCTTTGTGCTCTGTC	0.368													C	25261681	T	C	25261681	3	2	56	1	0	0	0	0	1	0	0	0	2660	1812	63	3	202	3	CASC1	12	25261681	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08		25261681	108590214	146	43290											
SMARCC2	6601	broad.mit.edu	37	chr12	56568472	56568472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcacccgctaggtttcggcGgcaggcggtagaggtaagat	15	9	1	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr12:56568472G>A	uc001skb.2	-	16	1565	c.1459C>T	c.(1459-1461)CGC>TGC	p.R487C	SMARCC2_uc001skd.2_Missense_Mutation_p.R487C|SMARCC2_uc001ska.2_Missense_Mutation_p.R487C|SMARCC2_uc001skc.2_Missense_Mutation_p.R487C|SMARCC2_uc010sqf.1_Missense_Mutation_p.R376C	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	487	SWIRM.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AGGTTTCGGCGGCAGGCGGTA	0.517													A	56568472	G	A	56568472	3	1	56	1	0	0	0	0	1	0	0	0	14776	1116	39	1	2334	1	SMARCC2	12	56568472	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	31306791	56568472	77283423	147	43291											
LRRC10	376132	broad.mit.edu	37	chr12	70003953	70003953	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtgcgttcctgcaaggAttgtggtcatagatgaccag	14	7	1	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr12:70003953A>G	uc001svc.2	-	1	990	c.666T>C	c.(664-666)AAT>AAC	p.N222N		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	222						nucleus					0	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TCCTGCAAGGATTGTGGTCAT	0.587													G	70003953	A	G	70003953	2	3	56	1	0	0	0	0	0	0	0	1	8967	330	12	3		3	LRRC10	12	70003953	Silent	SNP	A	TCGA-BR-7901-01A-11D-2201-08	13435481	70003953	63847942	148	43292											
PTPRB	5787	broad.mit.edu	37	chr12	70974970	70974970	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaatgaccacattttcatgGatcagtaagacttggtaaaa	7	6	2	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr12:70974970G>A	uc001swb.3	-	8	1800	c.1770C>T	c.(1768-1770)ATC>ATT	p.I590I	PTPRB_uc010sto.1_Silent_p.I590I|PTPRB_uc010stp.1_Silent_p.I500I|PTPRB_uc001swc.3_Silent_p.I808I|PTPRB_uc001swa.3_Silent_p.I808I|PTPRB_uc001swd.3_Silent_p.I807I|PTPRB_uc009zrr.1_Silent_p.I687I	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	590	Fibronectin type-III 7.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CATTTTCATGGATCAGTAAGA	0.463													A	70974970	G	A	70974970	2	1	56	1	0	0	0	0	0	0	0	1	12796	1164	41	4		4	PTPRB	12	70974970	Silent	SNP	G	TCGA-BR-7901-01A-11D-2201-08	971017	70974970	62876925	149	43293											
NAV3	89795	broad.mit.edu	37	chr12	78604244	78604244	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaaagctgcgacagcgaaAgcaccagccaccatgaagac	9	14	0	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr12:78604244A>G	uc001syp.2	+	40	7278	c.7105A>G	c.(7105-7107)AGC>GGC	p.S2369G	NAV3_uc001syo.2_Missense_Mutation_p.S2347G|NAV3_uc010sub.1_Missense_Mutation_p.S1826G|NAV3_uc009zsf.2_Missense_Mutation_p.S1178G	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	2369						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CGACAGCGAAAGCACCAGCCA	0.388										HNSCC(70;0.22)			G	78604244	A	G	78604244	3	3	56	1	0	0	0	0	1	0	0	0	10185	72	3	3	7193	3	NAV3	12	78604244	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	7629274	78604244	55247651	150	43294											
CHPT1	56994	broad.mit.edu	37	chr12	102117024	102117024	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatctataaaaagtcagcaActgatgtgtttgaaaagcat	8	5	2	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr12:102117024A>G	uc001tin.2	+	6	1082	c.859A>G	c.(859-861)ACT>GCT	p.T287A	CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Missense_Mutation_p.T287A	NM_020244	NP_064629	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	287					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding				0						AAAGTCAGCAACTGATGTGTT	0.343													G	102117024	A	G	102117024	3	3	56	1	0	0	0	0	1	0	0	0	3370	43	2	3	881	3	CHPT1	12	102117024	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	23512780	102117024	31734871	151	43295											
NUAK1	9891	broad.mit.edu	37	chr12	106464550	106464550	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccctccacagggcacgcAcctgagggctgtgttggctc	12	16	0	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr12:106464550A>C	uc001tlj.1	-	6	2212	c.832_splice	c.e6+1	p.D278_splice		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5								ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						CAGGGCACGCACCTGAGGGCT	0.507													C	106464550	A	C	106464550	5	2	56	1	0	0	0	0	0	0	1	0	10712	173	6	5	1159	5	NUAK1	12	106464550	Splice_Site	SNP	A	TCGA-BR-7901-01A-11D-2201-08	4347526	106464550	27387345	152	43296											
TMEM132D	121256	broad.mit.edu	37	chr12	129822217	129822217	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccaatcaagtcctttgggcTcacatagatcttggacactc	7	12	3	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr12:129822217T>A	uc009zyl.1	-	4	1589	c.1261A>T	c.(1261-1263)AGC>TGC	p.S421C		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	421	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCCTTTGGGCTCACATAGATC	0.612													A	129822217	T	A	129822217	3	1	56	1	0	0	0	0	1	0	0	0	16044	1551	54	5	2062	5	TMEM132D	12	129822217	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	23357667	129822217	4029678	153	43297											
GJB6	10804	broad.mit.edu	37	chr13	20796878	20796878	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttgaccactatctgaaaTcagctcattcatttcattct	3	10	6	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr13:20796878T>G	uc001umz.3	-	3	1295	c.742A>C	c.(742-744)ATT>CTT	p.I248L	GJB6_uc001unc.3_Missense_Mutation_p.I248L|GJB6_uc001una.3_Missense_Mutation_p.I248L|GJB6_uc001und.3_Missense_Mutation_p.I248L|GJB6_uc001unb.3_Missense_Mutation_p.I248L	NM_006783	NP_006774	O95452	CXB6_HUMAN	gap junction protein, beta 6	248	Cytoplasmic (Potential).				cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				ovary(1)	1		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		CTATCTGAAATCAGCTCATTC	0.408													G	20796878	T	G	20796878	3	3	56	1	0	0	0	0	1	0	0	0	6412	1435	50	5	47	5	GJB6	13	20796878	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08		20796878	94373000	154	43298											
TNFRSF19	55504	broad.mit.edu	37	chr13	24190168	24190168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccagtgatgccatctgcGgggactgcttgccagggtga	14	12	1	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr13:24190168G>A	uc001uov.1	+	4	407	c.343G>A	c.(343-345)GGG>AGG	p.G115R	TNFRSF19_uc001uot.2_Missense_Mutation_p.G115R|TNFRSF19_uc010tcu.1_5'UTR|TNFRSF19_uc001uow.2_Missense_Mutation_p.G115R	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily,	115	Extracellular (Potential).				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			kidney(1)|skin(1)	2		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TGCCATCTGCGGGGACTGCTT	0.473													A	24190168	G	A	24190168	3	1	56	1	0	0	0	0	1	0	0	0	16289	1116	39	1	353	1	TNFRSF19	13	24190168	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	3393290	24190168	90979710	155	43299											
TRPC4	7223	broad.mit.edu	37	chr13	38211114	38211114	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atcatagtctatactagagtCctcttcttttgcatgtttct	5	9	5	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr13:38211114C>A	uc001uws.2	-	11	3095	c.2860G>T	c.(2860-2862)GAC>TAC	p.D954Y	TRPC4_uc010abv.2_Missense_Mutation_p.D534Y|TRPC4_uc001uwt.2_Missense_Mutation_p.D870Y|TRPC4_uc010tey.1_Missense_Mutation_p.D813Y|TRPC4_uc010abw.2_Missense_Mutation_p.D781Y|TRPC4_uc010abx.2_Missense_Mutation_p.D959Y|TRPC4_uc010aby.2_Missense_Mutation_p.D805Y	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	954	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATACTAGAGTCCTCTTCTTTT	0.443													A	38211114	C	A	38211114	3	1	56	1	0	0	0	0	1	0	0	0	16577	855	30	5	77	5	TRPC4	13	38211114	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	14020946	38211114	76958764	156	43300											
TRPC4	7223	broad.mit.edu	37	chr13	38211582	38211582	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgaatcagggtggttaaatCaaaaaggctgaaattctttt	9	4	3	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr13:38211582C>T	uc001uws.2	-	11	2627	c.2392G>A	c.(2392-2394)GAT>AAT	p.D798N	TRPC4_uc010abv.2_Missense_Mutation_p.D378N|TRPC4_uc001uwt.2_Intron|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Missense_Mutation_p.D625N|TRPC4_uc010abx.2_Missense_Mutation_p.D803N|TRPC4_uc010aby.2_Intron	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	798	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GTGGTTAAATCAAAAAGGCTG	0.463													T	38211582	C	T	38211582	3	4	56	1	0	0	0	0	1	0	0	0	16577	826	29	4	545	4	TRPC4	13	38211582	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	468	38211582	76958296	157	43301											
ENOX1	55068	broad.mit.edu	37	chr13	43896599	43896599	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccatttcttcttcgcggcgGatgcccatgagctgctcact	9	14	3	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr13:43896599G>A	uc001uza.3	-	11	1482	c.1182C>T	c.(1180-1182)ATC>ATT	p.I394I	ENOX1_uc001uzb.3_Silent_p.I394I|ENOX1_uc001uzc.3_Silent_p.I394I|ENOX1_uc001uyz.3_Silent_p.I3I|ENOX1_uc010tfm.1_Silent_p.I207I	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	394					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CTTCGCGGCGGATGCCCATGA	0.473													A	43896599	G	A	43896599	2	1	56	1	0	0	0	0	0	0	0	1	5126	1164	41	4		4	ENOX1	13	43896599	Silent	SNP	G	TCGA-BR-7901-01A-11D-2201-08	5685017	43896599	71273279	158	43302											
PCDH17	27253	broad.mit.edu	37	chr13	58298909	58298909	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgttgagactgagacttaCgaaactgtgaatcccactgg	10	8	0	3	rs138830034	byFrequency	TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr13:58298909C>T	uc001vhq.1	+	4	3853	c.2961C>T	c.(2959-2961)TAC>TAT	p.Y987Y	PCDH17_uc010aec.1_Silent_p.Y986Y|PCDH17_uc001vhr.1_Silent_p.Y76Y	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	987	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTGAGACTTACGAAACTGTGA	0.413													T	58298909	C	T	58298909	2	4	56	1	0	0	0	0	0	0	0	1	11512	547	19	1		1	PCDH17	13	58298909	Silent	SNP	C	TCGA-BR-7901-01A-11D-2201-08	14402310	58298909	56870969	159	43303											
TDRD3	81550	broad.mit.edu	37	chr13	61084866	61084866	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atttgatttcttggaatctaAaatgggaactttgaatgtgg	10	3	2	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr13:61084866A>T	uc001via.2	+	10	1627	c.839A>T	c.(838-840)AAA>ATA	p.K280I	TDRD3_uc010aef.2_Missense_Mutation_p.K105I|TDRD3_uc001vhz.3_Missense_Mutation_p.K280I|TDRD3_uc010aeg.2_Missense_Mutation_p.K373I|TDRD3_uc001vib.3_Missense_Mutation_p.K279I	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	280					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TTGGAATCTAAAATGGGAACT	0.323													T	61084866	A	T	61084866	3	4	56	1	0	0	0	0	1	0	0	0	15729	14	1	5	1156	5	TDRD3	13	61084866	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	2785957	61084866	54085012	160	43304											
DACH1	1602	broad.mit.edu	37	chr13	72440223	72440223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttggtgtagaccgtatGcaagccccccaccaagtgct	10	14	0	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr13:72440223G>A	uc010thn.1	-	2	1102	c.679C>T	c.(679-681)CAT>TAT	p.H227Y	DACH1_uc010tho.1_Missense_Mutation_p.H227Y|DACH1_uc010thp.1_Missense_Mutation_p.H227Y	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	227	Interaction with SIX6 and HDAC3 (By similarity).|DACHbox-N.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TAGACCGTATGCAAGCCCCCC	0.622													A	72440223	G	A	72440223	3	1	56	1	0	0	0	0	1	0	0	0	4220	1319	46	2	1485	2	DACH1	13	72440223	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	11355357	72440223	42729655	161	43305											
EDNRB	1910	broad.mit.edu	37	chr13	78477411	78477411	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagccagaaccacagagacCacccaaatcaaaacaatttc	4	14	1	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr13:78477411C>A	uc001vko.2	-	3	939	c.681G>T	c.(679-681)GTG>GTT	p.V227V	EDNRB_uc001vkq.1_Silent_p.V227V|uc001vkn.1_Intron|EDNRB_uc010aez.1_Silent_p.V227V|EDNRB_uc001vkp.1_Silent_p.V310V	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	227	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CCACAGAGACCACCCAAATCA	0.408													A	78477411	C	A	78477411	2	1	56	1	0	0	0	0	0	0	0	1	4920	581	21	5		5	EDNRB	13	78477411	Silent	SNP	C	TCGA-BR-7901-01A-11D-2201-08	6037188	78477411	36692467	162	43306											
SLITRK1	114798	broad.mit.edu	37	chr13	84454439	84454439	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgcccagatccaacagaaTgaggttcttgtaatccacaa	8	10	1	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr13:84454439T>G	uc001vlk.2	-	1	2090	c.1204A>C	c.(1204-1206)ATT>CTT	p.I402L		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	402	Extracellular (Potential).|LRR 8.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCCAACAGAATGAGGTTCTTG	0.433													G	84454439	T	G	84454439	3	3	56	1	0	0	0	0	1	0	0	0	14742	1464	51	5	890	5	SLITRK1	13	84454439	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	5977028	84454439	30715439	163	43307											
NPAS3	64067	broad.mit.edu	37	chr14	34269031	34269031	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaagaagtcgggcaacgcGtgtgacaacgacatgaactg	14	9	0	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr14:34269031G>A	uc001wru.2	+	12	1582	c.1518G>A	c.(1516-1518)GCG>GCA	p.A506A	NPAS3_uc001wrs.2_Silent_p.A493A|NPAS3_uc001wrt.2_Silent_p.A474A|NPAS3_uc001wrv.2_Silent_p.A476A	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CGGGCAACGCGTGTGACAACG	0.592													A	34269031	G	A	34269031	2	1	56	1	0	0	0	0	0	0	0	1	10564	1132	40	1		1	NPAS3	14	34269031	Silent	SNP	G	TCGA-BR-7901-01A-11D-2201-08		34269031	73080509	164	43308											
NIN	51199	broad.mit.edu	37	chr14	51224398	51224398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtttgttccgcagtatttCcaaaaaactcagtagctggc	8	10	1	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr14:51224398C>T	uc001wym.2	-	18	3541	c.3350G>A	c.(3349-3351)GGA>GAA	p.G1117E	NIN_uc001wyi.2_Missense_Mutation_p.G1117E|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.G1123E|NIN_uc001wyo.2_Missense_Mutation_p.G1117E	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1117					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					CGCAGTATTTCCAAAAAACTC	0.433			T	PDGFRB	MPD								T	51224398	C	T	51224398	3	4	56	1	0	0	0	0	1	0	0	0	10417	855	30	4	3255	4	NIN	14	51224398	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	16955367	51224398	56125142	165	43309			2	13		4	4	416	C		5.095812e-09
NIN	51199	broad.mit.edu	37	chr14	51224423	51224423	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aaactcagtagctggctcatCcaaacaagaagacattacta	6	10	2	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr14:51224423C>G	uc001wym.2	-	18	3516	c.3325G>C	c.(3325-3327)GAT>CAT	p.D1109H	NIN_uc001wyi.2_Missense_Mutation_p.D1109H|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.D1115H|NIN_uc001wyo.2_Missense_Mutation_p.D1109H	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1109					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					GCTGGCTCATCCAAACAAGAA	0.428			T	PDGFRB	MPD								G	51224423	C	G	51224423	3	3	56	1	0	0	0	0	1	0	0	0	10417	855	30	5	3280	5	NIN	14	51224423	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	25	51224423	56125117	166	43310			2	13		4	4	416	C		5.095812e-09
NIN	51199	broad.mit.edu	37	chr14	51224605	51224605	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gctgaagcagggacagggctCcatctccttccacctcctcc	9	17	1	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr14:51224605C>G	uc001wym.2	-	18	3334	c.3143G>C	c.(3142-3144)GGA>GCA	p.G1048A	NIN_uc001wyi.2_Missense_Mutation_p.G1048A|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.G1054A|NIN_uc001wyo.2_Missense_Mutation_p.G1048A	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1048					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					GGACAGGGCTCCATCTCCTTC	0.507			T	PDGFRB	MPD								G	51224605	C	G	51224605	3	3	56	1	0	0	0	0	1	0	0	0	10417	855	30	5	3462	5	NIN	14	51224605	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	182	51224605	56124935	167	43311			2	13		4	4	416	C		5.095812e-09
NIN	51199	broad.mit.edu	37	chr14	51224813	51224813	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggacatcatttcctgcctttCctggtcatgttccatttcta	6	12	3	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr14:51224813C>A	uc001wym.2	-	18	3126	c.2935G>T	c.(2935-2937)GAA>TAA	p.E979*	NIN_uc001wyi.2_Nonsense_Mutation_p.E979*|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Nonsense_Mutation_p.E985*|NIN_uc001wyo.2_Nonsense_Mutation_p.E979*	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	979	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					TCCTGCCTTTCCTGGTCATGT	0.542			T	PDGFRB	MPD								A	51224813	C	A	51224813	4	1	56	1	0	0	0	0	0	1	0	0	10417	864	30	5	3670	5	NIN	14	51224813	Nonsense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	208	51224813	56124727	168	43312			2	13		4	4	416	C		5.095812e-09
KTN1	3895	broad.mit.edu	37	chr14	56107659	56107659	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttccacacacaggctgctgcTgcacatgaattggagaagat	10	10	0	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr14:56107659T>A	uc001xcb.2	+	17	2294	c.1992T>A	c.(1990-1992)GCT>GCA	p.A664A	KTN1_uc001xce.2_Silent_p.A664A|KTN1_uc001xcc.2_Silent_p.A664A|KTN1_uc001xcd.2_Silent_p.A664A|KTN1_uc010trb.1_Silent_p.A664A|KTN1_uc001xcf.1_Silent_p.A664A	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	kinectin 1 isoform a	664	Lumenal (Potential).|Potential.				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						AGGCTGCTGCTGCACATGAAT	0.318			T	RET	papillary thryoid								A	56107659	T	A	56107659	2	1	56	1	0	0	0	0	0	0	0	1	8585	1567	55	5		5	KTN1	14	56107659	Silent	SNP	T	TCGA-BR-7901-01A-11D-2201-08	4882846	56107659	51241881	169	43313											
ATP6V1D	51382	broad.mit.edu	37	chr14	67826414	67826414	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caattcggtctttgcccgacAttctgacgataacttttcgg	8	11	2	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr14:67826414A>T	uc001xjf.2	-	1	178	c.2T>A	c.(1-3)ATG>AAG	p.M1K	ATP6V1D_uc001xje.2_RNA|EIF2S1_uc001xjg.2_5'Flank	NM_015994	NP_057078	Q9Y5K8	VATD_HUMAN	H(+)-transporting two-sector ATPase	1					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)|lung(1)	2				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		TTTGCCCGACATTCTGACGAT	0.552													T	67826414	A	T	67826414	3	4	56	1	0	0	0	0	1	0	0	0	1182	217	8	5	777	5	ATP6V1D	14	67826414	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	11718755	67826414	39523126	170	43314											
DPF3	8110	broad.mit.edu	37	chr14	73140966	73140966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagagcgtccacagtctgCgcaggacaccagctcttcag	10	15	3	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr14:73140966C>T	uc001xnc.2	-	8	866	c.853G>A	c.(853-855)GCA>ACA	p.A285T	DPF3_uc001xnd.1_RNA|DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.A285T|DPF3_uc010ttq.1_Missense_Mutation_p.A295T	NM_012074	NP_036206	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	285	PHD-type 1.				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCACAGTCTGCGCAGGACACC	0.572													T	73140966	C	T	73140966	3	4	56	1	0	0	0	0	1	0	0	0	4718	768	27	1	228	1	DPF3	14	73140966	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	5314552	73140966	34208574	171	43315											
CCDC88C	440193	broad.mit.edu	37	chr14	91780011	91780011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttggtgctggtgaagcGcatggtctccaccagcctgc	13	13	1	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr14:91780011G>A	uc010aty.2	-	15	2248	c.2149C>T	c.(2149-2151)CGC>TGC	p.R717C		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	717	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				CTGGTGAAGCGCATGGTCTCC	0.607													A	91780011	G	A	91780011	3	1	56	1	0	0	0	0	1	0	0	0	2865	1087	38	1	4001	1	CCDC88C	14	91780011	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	18639045	91780011	15569529	172	43316											
BCL11B	64919	broad.mit.edu	37	chr14	99640530	99640530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttgacgtcgttagtcagCaagtgctcgccgtgccactt	10	11	1	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr14:99640530C>T	uc001yga.2	-	4	2910	c.2643G>A	c.(2641-2643)TTG>TTA	p.L881L	BCL11B_uc001ygb.2_Silent_p.L810L	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	881	C2H2-type 6.					nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CGTTAGTCAGCAAGTGCTCGC	0.483			T	TLX3	T-ALL								T	99640530	C	T	99640530	2	4	56	1	0	0	0	0	0	0	0	1	1364	709	25	2		2	BCL11B	14	99640530	Silent	SNP	C	TCGA-BR-7901-01A-11D-2201-08	7860519	99640530	7709010	173	43317											
INF2	64423	broad.mit.edu	37	chr14	105180624	105180624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgatgctacaacagccaGcgagtcccggggctgggacc	13	14	0	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr14:105180624G>A	uc001ypb.2	+	21	3268	c.3125G>A	c.(3124-3126)AGC>AAC	p.S1042N	INF2_uc010tyi.1_Missense_Mutation_p.S1042N|INF2_uc001ypc.2_Missense_Mutation_p.S1042N|INF2_uc010awz.1_RNA	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	1042					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		ACAACAGCCAGCGAGTCCCGG	0.687													A	105180624	G	A	105180624	3	1	56	1	0	0	0	0	1	0	0	0	7734	971	34	2	3207	2	INF2	14	105180624	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	5540094	105180624	2168916	174	43318											
MAP1A	4130	broad.mit.edu	37	chr15	43817620	43817620	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caagccctgatgaacacattCtgacacctgatagctccttc	6	14	1	4			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr15:43817620C>G	uc001zrt.2	+	4	4416	c.3949C>G	c.(3949-3951)CTG>GTG	p.L1317V		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1317						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGAACACATTCTGACACCTGA	0.502													G	43817620	C	G	43817620	3	3	56	1	0	0	0	0	1	0	0	0	9227	912	32	5	3951	5	MAP1A	15	43817620	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08		43817620	58713772	175	43319											
RFX7	64864	broad.mit.edu	37	chr15	56387980	56387980	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcttttagtgcataatttaGggtctttattgattgagtca	10	4	2	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr15:56387980G>C	uc010bfn.2	-	9	1946	c.1946C>G	c.(1945-1947)CCT>CGT	p.P649R	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.P463R	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	552					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						GCATAATTTAGGGTCTTTATT	0.428													C	56387980	G	C	56387980	3	2	56	1	0	0	0	0	1	0	0	0	13268	1000	35	5	2440	5	RFX7	15	56387980	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	12570360	56387980	46143412	176	43320											
TLN2	83660	broad.mit.edu	37	chr15	63089448	63089448	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaagacggccaaggccttGgtagaagacacgaaactact	10	11	1	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr15:63089448G>A	uc002alb.3	+	45	6081	c.6081G>A	c.(6079-6081)TTG>TTA	p.L2027L	TLN2_uc002alc.3_Silent_p.L420L	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	2027					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						CCAAGGCCTTGGTAGAAGACA	0.577													A	63089448	G	A	63089448	2	1	56	1	0	0	0	0	0	0	0	1	15945	1339	47	4		4	TLN2	15	63089448	Silent	SNP	G	TCGA-BR-7901-01A-11D-2201-08	6701468	63089448	39441944	177	43321											
MYO9A	4649	broad.mit.edu	37	chr15	72302748	72302748	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcaagttgtaggcgctcaAagtcatgtctcaaatcttct	9	9	5	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr15:72302748A>C	uc002atl.3	-	7	1669	c.1196T>G	c.(1195-1197)TTT>TGT	p.F399C	MYO9A_uc010biq.2_5'UTR|MYO9A_uc002ato.2_Missense_Mutation_p.F399C|MYO9A_uc002atn.1_Missense_Mutation_p.F380C	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	399	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						TAGGCGCTCAAAGTCATGTCT	0.328													C	72302748	A	C	72302748	3	2	56	1	0	0	0	0	1	0	0	0	10084	14	1	5	6594	5	MYO9A	15	72302748	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	9213300	72302748	30228644	178	43322											
ACAN	176	broad.mit.edu	37	chr15	89400187	89400187	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccttctggagaagttctAgagacttctacctctgcggt	9	11	4	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr15:89400187A>G	uc010upo.1	+	12	4745	c.4371A>G	c.(4369-4371)CTA>CTG	p.L1457L	ACAN_uc010upp.1_Silent_p.L1457L|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	1457					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGAAGTTCTAGAGACTTCTA	0.517													G	89400187	A	G	89400187	2	3	56	1	0	0	0	0	0	0	0	1	117	407	15	3		3	ACAN	15	89400187	Silent	SNP	A	TCGA-BR-7901-01A-11D-2201-08	17097439	89400187	13131205	179	43323											
TPSG1	25823	broad.mit.edu	37	chr16	1272743	1272743	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gggaggcagacgggcaggatCcggctggagagggtcacggg	22	8	1	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr16:1272743C>G	uc002ckw.2	-	4	422	c.420G>C	c.(418-420)CGG>CGC	p.R140R		NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN	transmembrane tryptase preproprotein	140	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)				CGGGCAGGATCCGGCTGGAGA	0.682													G	1272743	C	G	1272743	2	3	56	1	0	0	0	0	0	0	0	1	16423	842	30	5		5	TPSG1	16	1272743	Silent	SNP	C	TCGA-BR-7901-01A-11D-2201-08		1272743	89082010	180	43324											
C16orf71	146562	broad.mit.edu	37	chr16	4790653	4790653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagggaccaccagtgctctCgctccaggtaggcgcctccc	13	16	1	0	rs144741586	byFrequency	TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr16:4790653C>T	uc002cxn.2	+	4	1238	c.776C>T	c.(775-777)TCG>TTG	p.S259L		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	hypothetical protein LOC146562	259										central_nervous_system(1)	1						CCAGTGCTCTCGCTCCAGGTA	0.637													T	4790653	C	T	4790653	3	4	56	1	0	0	0	0	1	0	0	0	1830	893	31	1	786	1	C16orf71	16	4790653	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	3517910	4790653	85564100	181	43325											
ACSM2A	123876	broad.mit.edu	37	chr16	20497938	20497938	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagactgtcacagggaaaAttcaacgagccaagcttcga	9	11	2	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr16:20497938A>C	uc010bwe.2	+	15	1911	c.1672A>C	c.(1672-1674)ATT>CTT	p.I558L	ACSM2A_uc002dhf.3_Missense_Mutation_p.I558L|ACSM2A_uc002dhg.3_Missense_Mutation_p.I558L|ACSM2A_uc010vay.1_Missense_Mutation_p.I479L|ACSM2A_uc002dhh.3_Missense_Mutation_p.I188L|uc002dhi.1_5'Flank	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	558					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						CACAGGGAAAATTCAACGAGC	0.473													C	20497938	A	C	20497938	3	2	56	1	0	0	0	0	1	0	0	0	183	101	4	5	1722	5	ACSM2A	16	20497938	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	15707285	20497938	69856815	182	43326											
ZNF668	79759	broad.mit.edu	37	chr16	31072937	31072937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgaactctcacctgccaCgcccacaggcagcgccaacc	9	19	1	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr16:31072937C>T	uc010caf.2	-	3	1669	c.1312G>A	c.(1312-1314)GTG>ATG	p.V438M	ZNF668_uc002eao.2_Missense_Mutation_p.V438M	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4						TCACCTGCCACGCCCACAGGC	0.716													T	31072937	C	T	31072937	3	4	56	1	0	0	0	0	1	0	0	0	18072	536	19	1	551	1	ZNF668	16	31072937	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	10574999	31072937	59281816	183	43327											
ITGAM	3684	broad.mit.edu	37	chr16	31332822	31332822	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaaggcaatcatggagTtcaatcccagggaagtggca	13	8	3	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr16:31332822T>G	uc002ebq.2	+	16	1974	c.1876T>G	c.(1876-1878)TTC>GTC	p.F626V	ITGAM_uc002ebr.2_Missense_Mutation_p.F627V|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Missense_Mutation_p.F32V|ITGAM_uc002ebs.1_Missense_Mutation_p.F32V	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	626	Extracellular (Potential).|FG-GAP 7.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						AATCATGGAGTTCAATCCCAG	0.488													G	31332822	T	G	31332822	3	3	56	1	0	0	0	0	1	0	0	0	7887	1725	60	5	1941	5	ITGAM	16	31332822	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	259885	31332822	59021931	184	43328											
PSKH1	5681	broad.mit.edu	37	chr16	67943234	67943234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccttcaccgagcgtgaCgccacgcgggtgctgcagat	14	14	1	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr16:67943234C>T	uc002euv.2	+	2	752	c.582C>T	c.(580-582)GAC>GAT	p.D194D	PSKH1_uc010cet.2_Silent_p.D194D	NM_006742	NP_006733	P11801	KPSH1_HUMAN	protein serine kinase H1	194	Protein kinase.					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		CCGAGCGTGACGCCACGCGGG	0.587													T	67943234	C	T	67943234	2	4	56	1	0	0	0	0	0	0	0	1	12664	535	19	1		1	PSKH1	16	67943234	Silent	SNP	C	TCGA-BR-7901-01A-11D-2201-08	36610412	67943234	22411519	185	43329											
KARS	3735	broad.mit.edu	37	chr16	75662592	75662592	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atctatgaacatggcctcatCatcacctgcagccttggcct	7	14	4	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr16:75662592C>T	uc002feq.2	-	13	1618	c.1570G>A	c.(1570-1572)GAT>AAT	p.D524N	KARS_uc002fer.2_Missense_Mutation_p.D552N|KARS_uc002fes.2_Missense_Mutation_p.D368N	NM_005548	NP_005539	Q15046	SYK_HUMAN	lysyl-tRNA synthetase isoform 2	524					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			ovary(2)	2					L-Lysine(DB00123)	ATGGCCTCATCATCACCTGCA	0.512													T	75662592	C	T	75662592	3	4	56	1	0	0	0	0	1	0	0	0	7980	826	29	4	231	4	KARS	16	75662592	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	7719358	75662592	14692161	186	43330											
CNTNAP4	85445	broad.mit.edu	37	chr16	76486568	76486568	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttctgctgttcagtgaacTtcagctgatttcagggggta	12	8	4	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr16:76486568T>C	uc002feu.1	+	10	1620	c.1235T>C	c.(1234-1236)CTT>CCT	p.L412P	CNTNAP4_uc002fev.1_Missense_Mutation_p.L276P|CNTNAP4_uc010chb.1_Missense_Mutation_p.L339P|CNTNAP4_uc002fex.1_Missense_Mutation_p.L415P|CNTNAP4_uc002few.2_Missense_Mutation_p.L387P	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	412	Extracellular (Potential).|Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						TTCAGTGAACTTCAGCTGATT	0.458													C	76486568	T	C	76486568	3	2	56	1	0	0	0	0	1	0	0	0	3649	1609	56	3	1278	3	CNTNAP4	16	76486568	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	823976	76486568	13868185	187	43331											
SLC43A2	124935	broad.mit.edu	37	chr17	1489235	1489235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctttctcctcgggctcctCggaggcgtcttcacactcct	9	16	4	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr17:1489235C>T	uc002fsv.2	-	10	1278	c.1189G>A	c.(1189-1191)GAG>AAG	p.E397K	SLC43A2_uc002fsu.2_Missense_Mutation_p.E401K|SLC43A2_uc002fsw.2_Missense_Mutation_p.E397K|SLC43A2_uc002fsx.2_Missense_Mutation_p.E397K	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	solute carrier family 43, member 2	397					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TCGGGCTCCTCGGAGGCGTCT	0.652													T	1489235	C	T	1489235	3	4	56	1	0	0	0	0	1	0	0	0	14633	893	31	1	540	1	SLC43A2	17	1489235	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08		1489235	79705975	188	43332											
SMG6	23293	broad.mit.edu	37	chr17	2203121	2203121	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaatccatcaggctcatcaAttctgtcctcgtctaaggaa	6	12	5	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr17:2203121A>G	uc002fub.1	-	2	981	c.926T>C	c.(925-927)ATT>ACT	p.I309T	SMG6_uc002fud.1_Missense_Mutation_p.I278T	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	309	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4						AGGCTCATCAATTCTGTCCTC	0.512													G	2203121	A	G	2203121	3	3	56	1	0	0	0	0	1	0	0	0	14797	101	4	3	3405	3	SMG6	17	2203121	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	713886	2203121	78992089	189	43333											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576	by1000genomes	TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr17:7577120C>T	uc002gim.2	-	8	1012	c.818G>A	c.(817-819)CGT>CAT	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577120	C	T	7577120	3	4	56	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	5373999	7577120	73618090	190	43334											
PFAS	5198	broad.mit.edu	37	chr17	8167849	8167849	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccttgcccccagggctgaGcgtgcaccaggctctggaga	15	14	1	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr17:8167849G>C	uc002gkr.2	+	17	2120	c.1979G>C	c.(1978-1980)AGC>ACC	p.S660T	PFAS_uc010vuv.1_Missense_Mutation_p.S236T|PFAS_uc002gks.2_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	660					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCAGGGCTGAGCGTGCACCAG	0.647													C	8167849	G	C	8167849	3	2	56	1	0	0	0	0	1	0	0	0	11754	971	34	5	2041	5	PFAS	17	8167849	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	590729	8167849	73027361	191	43335											
DNAH9	1770	broad.mit.edu	37	chr17	11684386	11684386	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatggccctccagggaacaAgaaactcatctatttcattg	7	11	3	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr17:11684386A>G	uc002gne.2	+	39	7681	c.7613A>G	c.(7612-7614)AAG>AGG	p.K2538R	DNAH9_uc010coo.2_Missense_Mutation_p.K1832R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2538	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCAGGGAACAAGAAACTCATC	0.552													G	11684386	A	G	11684386	3	3	56	1	0	0	0	0	1	0	0	0	4608	72	3	3	7767	3	DNAH9	17	11684386	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	3516537	11684386	69510824	192	43336											
RAB34	83871	broad.mit.edu	37	chr17	27043058	27043058	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gacaggtcccccaccacaatGaccttggagatcttaaatct	7	13	2	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr17:27043058G>T	uc002hce.2	-	3	789	c.165C>A	c.(163-165)GTC>GTA	p.V55V	RAB34_uc002hcg.2_Silent_p.V55V|RAB34_uc002hcf.2_Silent_p.V56V|RAB34_uc010was.1_Silent_p.V112V|RAB34_uc010wat.1_Silent_p.V112V|RAB34_uc002hch.2_Silent_p.V55V|RAB34_uc010wau.1_Intron|RAB34_uc010wav.1_Silent_p.V113V	NM_031934	NP_114140	Q9BZG1	RAB34_HUMAN	Ras-related protein RAB34 isoform 1	55				V -> I (in Ref. 3; BAC11141).	protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding				0	Lung NSC(42;0.00431)					CCACCACAATGACCTTGGAGA	0.582													T	27043058	G	T	27043058	2	4	56	1	0	0	0	0	0	0	0	1	12924	1277	45	5		5	RAB34	17	27043058	Silent	SNP	G	TCGA-BR-7901-01A-11D-2201-08	15358672	27043058	54152152	193	43337											
MYO18A	399687	broad.mit.edu	37	chr17	27493224	27493224	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgacaggcctggccctcGgggccccgatccagcatggt	14	17	0	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr17:27493224G>A	uc002hdt.1	-	2	893	c.735C>T	c.(733-735)CCC>CCT	p.P245P	MYO18A_uc010csa.1_Silent_p.P245P|MYO18A_uc002hdu.1_Silent_p.P245P	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	245	PDZ.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCTGGCCCTCGGGGCCCCGAT	0.682													A	27493224	G	A	27493224	2	1	56	1	0	0	0	0	0	0	0	1	10065	1103	39	1		1	MYO18A	17	27493224	Silent	SNP	G	TCGA-BR-7901-01A-11D-2201-08	450166	27493224	53701986	194	43338											
EFCAB5	374786	broad.mit.edu	37	chr17	28418902	28418902	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	attccagagattgaaaatgtCagggaagtccagcgggcagg	14	7	1	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr17:28418902C>G	uc002het.2	+	21	4143	c.3951C>G	c.(3949-3951)GTC>GTG	p.V1317V	EFCAB5_uc010cse.2_Silent_p.V1072V|EFCAB5_uc010csf.2_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	1317							calcium ion binding			ovary(1)|skin(1)	2						TTGAAAATGTCAGGGAAGTCC	0.398													G	28418902	C	G	28418902	2	3	56	1	0	0	0	0	0	0	0	1	4938	813	29	5		5	EFCAB5	17	28418902	Silent	SNP	C	TCGA-BR-7901-01A-11D-2201-08	925678	28418902	52776308	195	43339											
EVI2A	2123	broad.mit.edu	37	chr17	29646016	29646016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taggtaatgtcctgtgtgttCcatgtccgtgggcatgcttg	13	8	0	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr17:29646016C>T	uc002hgm.2	-	2	231	c.16G>A	c.(16-18)GAA>AAA	p.E6K	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2A_uc002hgl.2_Missense_Mutation_p.E29K	NM_014210	NP_055025	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A isoform 2	6						integral to membrane	transmembrane receptor activity			ovary(1)|breast(1)	2		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		CCTGTGTGTTCCATGTCCGTG	0.393													T	29646016	C	T	29646016	3	4	56	1	0	0	0	0	1	0	0	0	5287	864	30	4	698	4	EVI2A	17	29646016	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	1227114	29646016	51549194	196	43340											
MMD	23531	broad.mit.edu	37	chr17	53481221	53481221	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggtccaagttcacgaAgatttaacctaaaaatgtaa	8	8	1	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr17:53481221A>C	uc002iui.2	-	5	638	c.353T>G	c.(352-354)CTT>CGT	p.L118R		NM_012329	NP_036461	Q15546	PAQRB_HUMAN	monocyte to macrophage	118	Helical; (Potential).				cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity				0						AAGTTCACGAAGATTTAACCT	0.388													C	53481221	A	C	53481221	3	2	56	1	0	0	0	0	1	0	0	0	9643	72	3	5	375	5	MMD	17	53481221	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	23835205	53481221	27713989	197	43341											
ENOSF1	55556	broad.mit.edu	37	chr18	677406	677406	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatcaggtgctgcaccagttCacagaggccaactccaccag	9	14	2	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr18:677406C>A	uc002kku.3	-	14	1162	c.1087G>T	c.(1087-1089)GAA>TAA	p.E363*	ENOSF1_uc002kkt.3_Nonsense_Mutation_p.E281*|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Nonsense_Mutation_p.E370*|ENOSF1_uc002kkv.3_Nonsense_Mutation_p.E350*|ENOSF1_uc002kkw.3_Nonsense_Mutation_p.E182*|ENOSF1_uc002kkx.3_Nonsense_Mutation_p.E287*	NM_017512	NP_059982	Q7L5Y1	ENOF1_HUMAN	enolase superfamily 1 isoform rTS beta	363					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			ovary(1)	1						TGCACCAGTTCACAGAGGCCA	0.438													A	677406	C	A	677406	4	1	56	1	0	0	0	0	0	1	0	0	5125	835	29	5	256	5	ENOSF1	18	677406	Nonsense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08		677406	77399842	198	43342											
L3MBTL4	91133	broad.mit.edu	37	chr18	6093528	6093528	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatacgggcagccaaaagcaCtggtttgtataaaaatgaga	10	6	0	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr18:6093528C>A	uc002kmz.3	-	15	1360	c.1200_splice	c.e15-1	p.S400_splice	L3MBTL4_uc010dkt.2_Splice_Site_p.S400_splice|L3MBTL4_uc002kmy.3_Splice_Site_p.S238_splice	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4						chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)				GCCAAAAGCACTGGTTTGTAT	0.383													A	6093528	C	A	6093528	5	1	56	1	0	0	0	0	0	0	1	0	8594	579	20	5	696	5	L3MBTL4	18	6093528	Splice_Site	SNP	C	TCGA-BR-7901-01A-11D-2201-08	5416122	6093528	71983720	199	43343											
PTPRM	5797	broad.mit.edu	37	chr18	8376482	8376482	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgcagggaggactggcTgtttcatcgtcattgatatc	13	8	2	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr18:8376482T>A	uc002knn.3	+	24	3813	c.3310T>A	c.(3310-3312)TGT>AGT	p.C1104S	PTPRM_uc010dkv.2_Missense_Mutation_p.C1117S|PTPRM_uc010wzl.1_Missense_Mutation_p.C891S	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1104	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				GAGGACTGGCTGTTTCATCGT	0.493													A	8376482	T	A	8376482	3	1	56	1	0	0	0	0	1	0	0	0	12806	1580	55	5	3451	5	PTPRM	18	8376482	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	2282954	8376482	69700766	200	43344											
NPC1	4864	broad.mit.edu	37	chr18	21124371	21124371	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccagcaccaggaacgggatGacttcaatcacaatgagggt	12	10	2	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr18:21124371G>A	uc002kum.3	-	13	2341	c.2067C>T	c.(2065-2067)GTC>GTT	p.V689V	NPC1_uc010xaz.1_Silent_p.V422V|NPC1_uc010xba.1_Silent_p.V534V	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	689	SSD.|Helical; (Potential).				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGAACGGGATGACTTCAATCA	0.527													A	21124371	G	A	21124371	2	1	56	1	0	0	0	0	0	0	0	1	10570	1277	45	4		4	NPC1	18	21124371	Silent	SNP	G	TCGA-BR-7901-01A-11D-2201-08	12747889	21124371	56952877	201	43345											
FAM59A	64762	broad.mit.edu	37	chr18	29867375	29867375	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcacctcactgttgccatgGagattgttgccatacacaca	7	12	2	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr18:29867375G>A	uc002kxl.2	-	4	1241	c.1185C>T	c.(1183-1185)CTC>CTT	p.L395L	FAM59A_uc002kxk.1_Silent_p.L395L	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	395										ovary(1)|skin(1)	2						TGTTGCCATGGAGATTGTTGC	0.572													A	29867375	G	A	29867375	2	1	56	1	0	0	0	0	0	0	0	1	5592	1161	41	4		4	FAM59A	18	29867375	Silent	SNP	G	TCGA-BR-7901-01A-11D-2201-08	8743004	29867375	48209873	202	43346											
ONECUT2	9480	broad.mit.edu	37	chr18	55143752	55143752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgttcactgacctccaaCgccgaacactcttcgccatc	7	16	2	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr18:55143752C>T	uc002lgo.2	+	2	1344	c.1312C>T	c.(1312-1314)CGC>TGC	p.R438C		NM_004852	NP_004843	O95948	ONEC2_HUMAN	one cut domain, family member 2	438	Homeobox.				organ morphogenesis	nucleus	sequence-specific DNA binding	p.R438C(1)		ovary(2)|central_nervous_system(1)	3		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		TGACCTCCAACGCCGAACACT	0.522													T	55143752	C	T	55143752	3	4	56	1	0	0	0	0	1	0	0	0	10869	536	19	1	1318	1	ONECUT2	18	55143752	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	25276377	55143752	22933496	203	43347											
ZNF236	7776	broad.mit.edu	37	chr18	74607072	74607072	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccacatccgcatccacacCcacgagaagcccttcaagtg	7	18	1	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr18:74607072C>A	uc002lmi.2	+	10	1713	c.1515C>A	c.(1513-1515)ACC>ACA	p.T505T	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	505					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GCATCCACACCCACGAGAAGC	0.642													A	74607072	C	A	74607072	2	1	56	1	0	0	0	0	0	0	0	1	17786	610	22	5		5	ZNF236	18	74607072	Silent	SNP	C	TCGA-BR-7901-01A-11D-2201-08	19463320	74607072	3470176	204	43348											
ZNF236	7776	broad.mit.edu	37	chr18	74607093	74607093	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacgagaagcccttcaagtgCccgcagtgcttccgcgcctt	10	16	1	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr18:74607093C>G	uc002lmi.2	+	10	1734	c.1536C>G	c.(1534-1536)TGC>TGG	p.C512W	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	512	C2H2-type 11.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCTTCAAGTGCCCGCAGTGCT	0.617													G	74607093	C	G	74607093	3	3	56	1	0	0	0	0	1	0	0	0	17786	747	26	5	1574	5	ZNF236	18	74607093	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	21	74607093	3470155	205	43349											
REXO1	57455	broad.mit.edu	37	chr19	1816466	1816466	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgctctccaggctgtgtccGatgaggatggtgtcagcgct	14	11	2	1	rs144308719	byFrequency	TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr19:1816466G>A	uc002lua.3	-	14	3515	c.3420C>T	c.(3418-3420)ATC>ATT	p.I1140I	REXO1_uc010dsq.2_Silent_p.I449I|REXO1_uc010xgs.1_Silent_p.I126I|MIR1909_hsa-mir-1909|MI0008330_5'Flank	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	1140	Exonuclease.					nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTGTGTCCGATGAGGATGG	0.672													A	1816466	G	A	1816466	2	1	56	1	0	0	0	0	0	0	0	1	13241	1048	37	1		1	REXO1	19	1816466	Silent	SNP	G	TCGA-BR-7901-01A-11D-2201-08		1816466	57312517	206	43350											
FEM1A	55527	broad.mit.edu	37	chr19	4793212	4793212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctacgtgcttcaggaccGggccgccaaaggcagcctgg	13	15	1	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr19:4793212G>A	uc002mbf.2	+	1	1485	c.1346G>A	c.(1345-1347)CGG>CAG	p.R449Q	uc002mbg.1_RNA	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a	449					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CTTCAGGACCGGGCCGCCAAA	0.642													A	4793212	G	A	4793212	3	1	56	1	0	0	0	0	1	0	0	0	5809	1116	39	1	1348	1	FEM1A	19	4793212	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	2976746	4793212	54335771	207	43351											
TMEM146	257062	broad.mit.edu	37	chr19	5778566	5778566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaggatcaagaagtgtgCgacacagctgtgtaggagat	14	8	1	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr19:5778566C>T	uc002mda.2	+	22	2337	c.2276C>T	c.(2275-2277)GCG>GTG	p.A759V		NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	759	Cytoplasmic (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						AAGAAGTGTGCGACACAGCTG	0.627													T	5778566	C	T	5778566	3	4	56	1	0	0	0	0	1	0	0	0	16057	768	27	1	2362	1	TMEM146	19	5778566	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	985354	5778566	53350417	208	43352											
HNRNPM	4670	broad.mit.edu	37	chr19	8536272	8536272	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccattgatgccaatcacCtgaataaaggcatcggaatg	8	10	1	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr19:8536272C>T	uc010dwe.2	+	10	1038	c.958C>T	c.(958-960)CTG>TTG	p.L320L	HNRNPM_uc010dwc.1_Silent_p.L320L|HNRNPM_uc010xke.1_Silent_p.L281L|HNRNPM_uc010dwd.2_Silent_p.L281L|HNRNPM_uc002mka.2_Silent_p.L200L	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	320					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0						TGCCAATCACCTGAATAAAGG	0.463													T	8536272	C	T	8536272	2	4	56	1	0	0	0	0	0	0	0	1	7271	680	24	4		4	HNRNPM	19	8536272	Silent	SNP	C	TCGA-BR-7901-01A-11D-2201-08	2757706	8536272	50592711	209	43353											
EPOR	2057	broad.mit.edu	37	chr19	11488878	11488883	+	In_Frame_Del	DEL	GCAAGA	GCAAGA	-													agggcacagtgtccatggacGcaagagctgggagctggggt					rs62638744	byFrequency	TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr19:11488877_11488882CGCAAGA>C	uc002mrj.2	-	7	1440_1445	c.1305_1310TCTTGCG>G	c.(1303-1311)ctcttgcgt>ctGt	p.LR436del	EPOR_uc010xly.2_In_Frame_Del_p.LR263del|EPOR_uc002mrk.2_In_Frame_Del_p.LR263del|EPOR_uc010xlx.2_Non-coding_Transcript	NM_000121	NP_000112	P19235	EPOR_HUMAN	Homo sapiens erythropoietin receptor (EPOR), transcript variant 1, mRNA.	436						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	TGTCCATGGACGCAAGAGCTGGGAGC	0.578											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	11488883	GCAAGA	-	11488878	7	5	56	1	0	1	0	1	0	0	0	0	5189	1087	38	0	221	0	EPOR	19	11488878	In_Frame_Del	DEL	GCAAGA	TCGA-BR-7901-01A-11D-2201-08	2952606	11488878	47640105	210	43354											
TPM4	7171	broad.mit.edu	37	chr19	16204371	16204371	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaggaggacaaatatgAagaagaaattaaacttctgt	9	3	1	4			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr19:16204371A>G	uc002ndj.2	+	6	798	c.557A>G	c.(556-558)GAA>GGA	p.E186G	TPM4_uc002ndi.2_Missense_Mutation_p.E222G|TPM4_uc002ndk.1_Missense_Mutation_p.E96G	NM_003290	NP_003281	P67936	TPM4_HUMAN	tropomyosin 4 isoform 2	186	By similarity.				cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	soft_tissue(10)|haematopoietic_and_lymphoid_tissue(2)|breast(1)	13						GACAAATATGAAGAAGAAATT	0.383			T	ALK	ALCL								G	16204371	A	G	16204371	3	3	56	1	0	0	0	0	1	0	0	0	16405	246	9	3	827	3	TPM4	19	16204371	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	4715493	16204371	42924612	211	43355											
ZNF536	9745	broad.mit.edu	37	chr19	31040415	31040415	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtatcaagaggccagacTtgtgtggtaagttttagaat	12	4	1	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr19:31040415T>G	uc002nsu.1	+	4	4027	c.3889T>G	c.(3889-3891)TTG>GTG	p.L1297V	ZNF536_uc010edd.1_Missense_Mutation_p.L1297V	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GAGGCCAGACTTGTGTGGTAA	0.428													G	31040415	T	G	31040415	3	3	56	1	0	0	0	0	1	0	0	0	17971	1606	56	5	3899	5	ZNF536	19	31040415	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	14836044	31040415	28088568	212	43356											
TSHZ3	57616	broad.mit.edu	37	chr19	31769778	31769778	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgacaggagtgacgggTtccttcagaggcactttttg	15	9	1	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr19:31769778T>G	uc002nsy.3	-	2	986	c.921A>C	c.(919-921)GAA>GAC	p.E307D		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	307					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					GAGTGACGGGTTCCTTCAGAG	0.532													G	31769778	T	G	31769778	3	3	56	1	0	0	0	0	1	0	0	0	16622	1722	60	5	2328	5	TSHZ3	19	31769778	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	729363	31769778	27359205	213	43357											
ZNF574	64763	broad.mit.edu	37	chr19	42585010	42585010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagctgttcagcacagagaCgtcactgcaggtgcaccggc	13	12	2	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr19:42585010C>T	uc002osm.3	+	2	2421	c.2252C>T	c.(2251-2253)ACG>ATG	p.T751M	ZNF574_uc002osk.3_Missense_Mutation_p.T841M	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	751	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				AGCACAGAGACGTCACTGCAG	0.627													T	42585010	C	T	42585010	3	4	56	1	0	0	0	0	1	0	0	0	18003	536	19	1	2254	1	ZNF574	19	42585010	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	10815232	42585010	16543973	214	43358											
RTN2	6253	broad.mit.edu	37	chr19	45997476	45997476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtccgtgctatcgaggcaCtgtccccttactggctctcg	11	14	1	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr19:45997476C>T	uc002pcb.2	-	4	990	c.762G>A	c.(760-762)CAG>CAA	p.Q254Q	RTN2_uc002pcc.2_Silent_p.Q254Q|RTN2_uc002pcd.2_RNA	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	254						integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TATCGAGGCACTGTCCCCTTA	0.552													T	45997476	C	T	45997476	2	4	56	1	0	0	0	0	0	0	0	1	13726	564	20	4		4	RTN2	19	45997476	Silent	SNP	C	TCGA-BR-7901-01A-11D-2201-08	3412466	45997476	13131507	215	43359											
QPCTL	54814	broad.mit.edu	37	chr19	46195984	46195984	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcgttccgggggccgcgggcGaccccgcctgcggctggggg	21	15	0	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr19:46195984G>C	uc010xxr.1	+	1	244	c.23G>C	c.(22-24)CGA>CCA	p.R8P	SNRPD2_uc002pcv.2_5'Flank|SNRPD2_uc002pcw.2_5'Flank|QPCTL_uc010ekn.2_Missense_Mutation_p.R8P	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like isoform	8					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		GGCCGCGGGCGACCCCGCCTG	0.672													C	46195984	G	C	46195984	3	2	56	1	0	0	0	0	1	0	0	0	12875	1058	37	5	25	5	QPCTL	19	46195984	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	198508	46195984	12932999	216	43360											
ZNF613	79898	broad.mit.edu	37	chr19	52447732	52447732	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taagcatcagcgaactcaaaAcatagataaaccccatgtat	5	10	2	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr19:52447732A>T	uc002pxz.1	+	6	1019	c.596A>T	c.(595-597)AAC>ATC	p.N199I	ZNF613_uc002pya.1_Missense_Mutation_p.N163I	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CGAACTCAAAACATAGATAAA	0.413													T	52447732	A	T	52447732	3	4	56	1	0	0	0	0	1	0	0	0	18035	43	2	5	610	5	ZNF613	19	52447732	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	6251748	52447732	6681251	217	43361											
ZNF347	84671	broad.mit.edu	37	chr19	53643983	53643983	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctctccagtatgaactctctGatgccttgcaagctttgatg	8	11	2	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr19:53643983G>A	uc002qbb.1	-	5	2167	c.2098C>T	c.(2098-2100)CAG>TAG	p.Q700*	ZNF347_uc010eql.1_Nonsense_Mutation_p.Q701*|ZNF347_uc002qbc.1_Nonsense_Mutation_p.Q701*	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	700	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		TGAACTCTCTGATGCCTTGCA	0.443													A	53643983	G	A	53643983	4	1	56	1	0	0	0	0	0	1	0	0	17858	1299	45	4	425	4	ZNF347	19	53643983	Nonsense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	1196251	53643983	5485000	218	43362											
NLRP8	126205	broad.mit.edu	37	chr19	56466706	56466706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatgccacctctgtgttcGtccggtatatttctagcttg	8	11	2	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr19:56466706G>A	uc002qmh.2	+	3	1353	c.1282G>A	c.(1282-1284)GTC>ATC	p.V428I	NLRP8_uc010etg.2_Missense_Mutation_p.V428I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	428	NACHT.					cytoplasm	ATP binding	p.V428I(1)		ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCTGTGTTCGTCCGGTATAT	0.498													A	56466706	G	A	56466706	3	1	56	1	0	0	0	0	1	0	0	0	10483	1145	40	1	1292	1	NLRP8	19	56466706	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	2822723	56466706	2662277	219	43363											
ZNF550	162972	broad.mit.edu	37	chr19	58059343	58059343	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtggttggctctctggtaTgaacttgtgctctgtcacct	11	9	3	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr19:58059343T>C	uc002qpe.1	-	2	146	c.146A>G	c.(145-147)CAT>CGT	p.H49R	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN	zinc finger protein 550	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCTCTGGTATGAACTTGTGC	0.453													C	58059343	T	C	58059343	3	2	56	1	0	0	0	0	1	0	0	0	17979	1464	51	3	1003	3	ZNF550	19	58059343	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	1592637	58059343	1069640	220	43364											
LRRN4	164312	broad.mit.edu	37	chr20	6022187	6022187	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgaggccggggcaccgGcaccgccaccgcctctgcag	14	19	1	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr20:6022187G>C	uc002wmo.2	-	5	1928	c.1704C>G	c.(1702-1704)TGC>TGG	p.C568W		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	568	Extracellular (Potential).					integral to membrane				skin(3)	3						CGGGGCACCGGCACCGCCACC	0.697													C	6022187	G	C	6022187	3	2	56	1	0	0	0	0	1	0	0	0	9037	1195	42	5	522	5	LRRN4	20	6022187	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08		6022187	57003333	221	43365											
POFUT1	23509	broad.mit.edu	37	chr20	30803221	30803221	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctttgaggtggcagcccaGcgaagcccagataagaagac	13	10	0	4			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr20:30803221G>A	uc002wxp.2	+	3	445	c.396G>A	c.(394-396)CAG>CAA	p.Q132Q	POFUT1_uc002wxo.2_Silent_p.Q132Q|POFUT1_uc010ztt.1_Silent_p.Q24Q|POFUT1_uc010ztu.1_Intron	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1 isoform 1	132					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)	1			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGGCAGCCCAGCGAAGCCCAG	0.592													A	30803221	G	A	30803221	2	1	56	1	0	0	0	0	0	0	0	1	12183	962	34	2		2	POFUT1	20	30803221	Silent	SNP	G	TCGA-BR-7901-01A-11D-2201-08	24781034	30803221	32222299	222	43366											
MYH7B	57644	broad.mit.edu	37	chr20	33585431	33585431	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gctgccaacgtggagactctGacccgcgccaaggtgtccgt	13	14	1	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr20:33585431G>C	uc002xbi.1	+	30	3953	c.3861G>C	c.(3859-3861)CTG>CTC	p.L1287L		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	1245	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGGAGACTCTGACCCGCGCCA	0.612													C	33585431	G	C	33585431	2	2	56	1	0	0	0	0	0	0	0	1	10040	1277	45	5		5	MYH7B	20	33585431	Silent	SNP	G	TCGA-BR-7901-01A-11D-2201-08	2782210	33585431	29440089	223	43367											
ATP9A	10079	broad.mit.edu	37	chr20	50238633	50238633	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagccgaaaaacgtggatgtCttggtttctggtcaccagat	11	9	3	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr20:50238633C>T	uc002xwg.1	-	19	2095	c.2095G>A	c.(2095-2097)GAC>AAC	p.D699N	ATP9A_uc010gih.1_Missense_Mutation_p.D563N|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	699	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						ACGTGGATGTCTTGGTTTCTG	0.517													T	50238633	C	T	50238633	3	4	56	1	0	0	0	0	1	0	0	0	1198	913	32	4	1088	4	ATP9A	20	50238633	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	16653202	50238633	12786887	224	43368											
APP	351	broad.mit.edu	37	chr21	27347518	27347518	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggctgcttcctgttccaaAgattccactttctcctggaa	7	12	1	1			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr21:27347518A>G	uc002ylz.2	-	11	1523	c.1323T>C	c.(1321-1323)TCT>TCC	p.S441S	APP_uc010glk.2_Silent_p.S417S|APP_uc002yma.2_Silent_p.S422S|APP_uc011ach.1_Silent_p.S385S|APP_uc002ymb.2_Silent_p.S366S|APP_uc010glj.2_Silent_p.S310S|APP_uc011aci.1_Silent_p.S331S	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	441	Extracellular (Potential).				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				CCTGTTCCAAAGATTCCACTT	0.498													G	27347518	A	G	27347518	2	3	56	1	0	0	0	0	0	0	0	1	815	59	3	3		3	APP	21	27347518	Silent	SNP	A	TCGA-BR-7901-01A-11D-2201-08		27347518	20782377	225	43369											
KRTAP13-3	337960	broad.mit.edu	37	chr21	31797958	31797958	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacatgcatagtcaggcaAgaattgcagagcatgtgagt	11	8	1	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr21:31797958A>G	uc002yob.1	-	1	273	c.273T>C	c.(271-273)TCT>TCC	p.S91S		NM_181622	NP_853653	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	91	5 X 10 AA approximate repeats.					intermediate filament				ovary(1)|lung(1)	2						TAGTCAGGCAAGAATTGCAGA	0.567													G	31797958	A	G	31797958	2	3	56	1	0	0	0	0	0	0	0	1	8524	59	3	3		3	KRTAP13-3	21	31797958	Silent	SNP	A	TCGA-BR-7901-01A-11D-2201-08	4450440	31797958	16331937	226	43370											
TIAM1	7074	broad.mit.edu	37	chr21	32493072	32493072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctttctccgggctgcttgCggagacggcatcagaatcaa	11	12	4	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr21:32493072C>T	uc002yow.1	-	29	4862	c.4390G>A	c.(4390-4392)GCA>ACA	p.A1464T	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.A1404T	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1464					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						GGGCTGCTTGCGGAGACGGCA	0.577													T	32493072	C	T	32493072	3	4	56	1	0	0	0	0	1	0	0	0	15887	768	27	1	389	1	TIAM1	21	32493072	Missense_Mutation	SNP	C	TCGA-BR-7901-01A-11D-2201-08	695114	32493072	15636823	227	43371											
DSCAM	1826	broad.mit.edu	37	chr21	42080477	42080477	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attaaggtactgaagcttgaAggagggaaggggaaaatttg	15	2	0	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr21:42080477A>C	uc002yyq.1	-	2	716	c.264T>G	c.(262-264)CCT>CCG	p.P88P	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	88	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGAAGCTTGAAGGAGGGAAGG	0.498													C	42080477	A	C	42080477	2	2	56	1	0	0	0	0	0	0	0	1	4768	59	3	5		5	DSCAM	21	42080477	Silent	SNP	A	TCGA-BR-7901-01A-11D-2201-08	9587405	42080477	6049418	228	43372											
TRMT2A	27037	broad.mit.edu	37	chr22	20103938	20103938	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcacgttctgcagctccagTttaaagatctcagaggtaaa	10	9	2	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr22:20103938T>C	uc002zrk.1	-	3	437	c.222A>G	c.(220-222)AAA>AAG	p.K74K	TRMT2A_uc002zrl.1_Silent_p.K74K|TRMT2A_uc002zrm.1_5'UTR|TRMT2A_uc002zrn.1_Silent_p.K74K|TRMT2A_uc011ahk.1_Silent_p.K74K|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	HpaII tiny fragments locus 9C	74	RRM.				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(1)	1						GCAGCTCCAGTTTAAAGATCT	0.612													C	20103938	T	C	20103938	2	2	56	1	0	0	0	0	0	0	0	1	16562	1722	60	3		3	TRMT2A	22	20103938	Silent	SNP	T	TCGA-BR-7901-01A-11D-2201-08		20103938	31200628	229	43373			3	14		2	2	14	N	T_G	9.82616e-05
TRMT2A	27037	broad.mit.edu	37	chr22	20103951	20103951	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctccagtttaaagatctcaGaggtaaacaagtcatccctg	8	10	2	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chr22:20103951G>T	uc002zrk.1	-	3	424	c.209C>A	c.(208-210)TCT>TAT	p.S70Y	TRMT2A_uc002zrl.1_Missense_Mutation_p.S70Y|TRMT2A_uc002zrm.1_Translation_Start_Site|TRMT2A_uc002zrn.1_Missense_Mutation_p.S70Y|TRMT2A_uc011ahk.1_Missense_Mutation_p.S70Y|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	HpaII tiny fragments locus 9C	70					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(1)	1						AAAGATCTCAGAGGTAAACAA	0.632													T	20103951	G	T	20103951	3	4	56	1	0	0	0	0	1	0	0	0	16562	942	33	5	1712	5	TRMT2A	22	20103951	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	13	20103951	31200615	230	43374			3	14		2	2	14	N	T_G	9.82616e-05
MAGEB6	158809	broad.mit.edu	37	chrX	26212113	26212113	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcgcgcttgtctgggTgattgtcgtaggtcttctga	12	9	5	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chrX:26212113T>C	uc004dbr.2	+	2	299	c.150T>C	c.(148-150)GGT>GGC	p.G50G	MAGEB6_uc010ngc.1_5'UTR	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	50	Ser-rich.									ovary(3)	3						CTTGTCTGGGTGATTGTCGTA	0.542													C	26212113	T	C	26212113	2	2	56	1	0	0	0	0	0	0	0	1	9179	1683	59	3		3	MAGEB6	23	26212113	Silent	SNP	T	TCGA-BR-7901-01A-11D-2201-08		26212113	129058447	231	43375											
PAGE4	9506	broad.mit.edu	37	chrX	49597160	49597160	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aaggtgattgccaggaaatgGatctggaaaagactcggagt	14	5	1	2			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chrX:49597160G>C	uc004don.1	+	4	278	c.199G>C	c.(199-201)GAT>CAT	p.D67H		NM_007003	NP_008934	O60829	GAGC1_HUMAN	G antigen, family C, 1	67											0	Ovarian(276;0.236)					CCAGGAAATGGATCTGGAAAA	0.343													C	49597160	G	C	49597160	3	2	56	1	0	0	0	0	1	0	0	0	11392	1174	41	5	209	5	PAGE4	23	49597160	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	23385047	49597160	105673400	232	43376											
MAGEC1	9947	broad.mit.edu	37	chrX	140996300	140996300	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgggagggagcactttgcctTtggggagcccagggagctcc	17	10	0	0			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chrX:140996300T>A	uc004fbt.2	+	4	3396	c.3110T>A	c.(3109-3111)TTT>TAT	p.F1037Y	MAGEC1_uc010nsl.1_Missense_Mutation_p.F104Y	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1037	MAGE.						protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CACTTTGCCTTTGGGGAGCCC	0.542										HNSCC(15;0.026)			A	140996300	T	A	140996300	3	1	56	1	0	0	0	0	1	0	0	0	9180	1841	64	5	3116	5	MAGEC1	23	140996300	Missense_Mutation	SNP	T	TCGA-BR-7901-01A-11D-2201-08	91399140	140996300	14274260	233	43377											
MAGEC2	51438	broad.mit.edu	37	chrX	141291458	141291458	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgagctccatgaaaaagAggagcagcaggagctcagag	14	7	1	4			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chrX:141291458A>G	uc004fbu.1	-	3	664	c.316T>C	c.(316-318)TCT>CCT	p.S106P		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	106	Ser-rich.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					CATGAAAAAGAGGAGCAGCAG	0.413										HNSCC(46;0.14)			G	141291458	A	G	141291458	3	3	56	1	0	0	0	0	1	0	0	0	9181	304	11	3	809	3	MAGEC2	23	141291458	Missense_Mutation	SNP	A	TCGA-BR-7901-01A-11D-2201-08	295158	141291458	13979102	234	43378											
ATP6AP1	537	broad.mit.edu	37	chrX	153664188	153664188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctcaagaccatggatcGctttgatgaccacaagggcc	10	13	1	3			TCGA-BR-7901-01A-11D-2201-08	TCGA-BR-7901-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1	bf460fea-4897-4f6b-a171-649f443ff56e	g.chrX:153664188G>A	uc004flf.1	+	10	1425	c.1364G>A	c.(1363-1365)CGC>CAC	p.R455H	ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Missense_Mutation_p.R415H|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.3_5'Flank	NM_001183	NP_001174	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory	455					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(3)|breast(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCATGGATCGCTTTGATGAC	0.562													A	153664188	G	A	153664188	3	1	56	1	0	0	0	0	1	0	0	0	1165	1087	38	1	1402	1	ATP6AP1	23	153664188	Missense_Mutation	SNP	G	TCGA-BR-7901-01A-11D-2201-08	12372730	153664188	1606372	235	43379											
INPP5B	3633	broad.mit.edu	37	chr1	38339763	38339763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcaaaatgacagggtactTgtccattatgaattgtaaag	8	5	1	2			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr1:38339763T>C	uc001ccg.1	-	18	1947	c.1853A>G	c.(1852-1854)CAA>CGA	p.Q618R	INPP5B_uc009vvk.1_Missense_Mutation_p.Q559R|INPP5B_uc001ccf.1_Missense_Mutation_p.Q454R|INPP5B_uc010oij.1_RNA	NM_005540	NP_005531	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	698					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			urinary_tract(1)	1	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACAGGGTACTTGTCCATTATG	0.458													C	38339763	T	C	38339763	3	2	57	1	0	0	0	0	1	0	0	0	7755	1812	63	3	916	3	INPP5B	1	38339763	Missense_Mutation	SNP	T	TCGA-BR-7957-01A-11D-2201-08		38339763	210910858	1	43380											
KIAA0467	23334	broad.mit.edu	37	chr1	43907245	43907245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgcccgtgttgctcagCgctggatggagtttatggtt	14	7	1	0	rs139028803		TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr1:43907245C>T	uc001cjk.1	+	39	5347	c.4885C>T	c.(4885-4887)CGC>TGC	p.R1629C		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2528						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGTTGCTCAGCGCTGGATGGA	0.582													T	43907245	C	T	43907245	3	4	57	1	0	0	0	0	1	0	0	0	8178	768	27	1	5031	1	KIAA0467	1	43907245	Missense_Mutation	SNP	C	TCGA-BR-7957-01A-11D-2201-08	5567482	43907245	205343376	2	43381											
KIAA0467	23334	broad.mit.edu	37	chr1	43913551	43913551	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctggactctgagggacttCgacaccaggatgactttgat	11	10	1	3			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr1:43913551C>T	uc001cjk.1	+	53	7237	c.6775C>T	c.(6775-6777)CGA>TGA	p.R2259*	KIAA0467_uc001cjl.1_Nonsense_Mutation_p.R247*	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	3158						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGAGGGACTTCGACACCAGGA	0.552													T	43913551	C	T	43913551	4	4	57	1	0	0	0	0	0	1	0	0	8178	876	31	1	6977	1	KIAA0467	1	43913551	Nonsense_Mutation	SNP	C	TCGA-BR-7957-01A-11D-2201-08	6306	43913551	205337070	3	43382											
PDE4DIP	9659	broad.mit.edu	37	chr1	144922018	144922018	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatcaagcagagctacctgTtgctgagctggagaagtacc	12	9	1	4			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr1:144922018T>C	uc001elw.3	-	9	1302	c.1011A>G	c.(1009-1011)CAA>CAG	p.Q337Q	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.Q403Q|PDE4DIP_uc001emc.1_Silent_p.Q337Q|PDE4DIP_uc001emd.1_Silent_p.Q337Q|PDE4DIP_uc001emb.1_Silent_p.Q500Q|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Silent_p.Q124Q	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	337					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAGCTACCTGTTGCTGAGCTG	0.468			T	PDGFRB	MPD								C	144922018	T	C	144922018	2	2	57	1	0	0	0	0	0	0	0	1	11643	1722	60	3		3	PDE4DIP	1	144922018	Silent	SNP	T	TCGA-BR-7957-01A-11D-2201-08	101008467	144922018	104328603	4	43383											
ECM1	1893	broad.mit.edu	37	chr1	150483405	150483405	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaacctgagtcctggaatGcagcccagcactgccaacag	10	14	0	2			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr1:150483405G>T	uc001eus.2	+	6	638	c.439G>T	c.(439-441)GCA>TCA	p.A147S	ECM1_uc010pce.1_Missense_Mutation_p.A76S|ECM1_uc010pcf.1_Missense_Mutation_p.A69S|ECM1_uc001eut.2_Missense_Mutation_p.A147S|ECM1_uc001euu.2_Missense_Mutation_p.A176S|ECM1_uc001euv.2_Missense_Mutation_p.A174S|ECM1_uc009wlu.2_5'UTR	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	147					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTCCTGGAATGCAGCCCAGCA	0.612													T	150483405	G	T	150483405	3	4	57	1	0	0	0	0	1	0	0	0	4897	1319	46	5	461	5	ECM1	1	150483405	Missense_Mutation	SNP	G	TCGA-BR-7957-01A-11D-2201-08	5561387	150483405	98767216	5	43384											
PIGR	5284	broad.mit.edu	37	chr1	207112623	207112623	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttagccctgcctgcatattTgctggagacgtagccctccg	11	13	0	1			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr1:207112623T>A	uc001hez.2	-	3	413	c.229A>T	c.(229-231)AAA>TAA	p.K77*	PIGR_uc009xbz.2_Nonsense_Mutation_p.K77*	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	77	Ig-like V-type 1.|Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CCTGCATATTTGCTGGAGACG	0.592													A	207112623	T	A	207112623	4	1	57	1	0	0	0	0	0	1	0	0	11897	1821	63	5	2101	5	PIGR	1	207112623	Nonsense_Mutation	SNP	T	TCGA-BR-7957-01A-11D-2201-08	56629218	207112623	42137998	6	43385											
BIRC6	57448	broad.mit.edu	37	chr2	32824836	32824836	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctggtccagcggacacccctTatgcaaatggctgctttgag	11	12	0	1			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr2:32824836T>A	uc010ezu.2	+	70	13995	c.13861T>A	c.(13861-13863)TAT>AAT	p.Y4621N		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	4621	Ubiquitin-conjugating.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					GGACACCCCTTATGCAAATGG	0.388													A	32824836	T	A	32824836	3	1	57	1	0	0	0	0	1	0	0	0	1438	1754	61	5	14139	5	BIRC6	2	32824836	Missense_Mutation	SNP	T	TCGA-BR-7957-01A-11D-2201-08		32824836	210374537	7	43386											
POLR1A	25885	broad.mit.edu	37	chr2	86276114	86276114	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatcctgccattttcctcGgacctcatcatatgatgcgg	9	13	2	1			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr2:86276114G>A	uc002sqs.2	-	18	2906	c.2527C>T	c.(2527-2529)CGA>TGA	p.R843*	POLR1A_uc010ytb.1_Nonsense_Mutation_p.R209*	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	843					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						CATTTTCCTCGGACCTCATCA	0.493													A	86276114	G	A	86276114	4	1	57	1	0	0	0	0	0	1	0	0	12209	1124	39	1	2703	1	POLR1A	2	86276114	Nonsense_Mutation	SNP	G	TCGA-BR-7957-01A-11D-2201-08	53451278	86276114	156923259	8	43387											
ITGA4	3676	broad.mit.edu	37	chr2	182322476	182322476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggggtcccgaccggccGcccctacaacgtggacactg	13	17	0	0			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr2:182322476G>A	uc002unu.2	+	1	858	c.95G>A	c.(94-96)CGC>CAC	p.R32H	ITGA4_uc002unt.2_Missense_Mutation_p.R32H|ITGA4_uc010zfl.1_Missense_Mutation_p.R32H	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	32					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CCGACCGGCCGCCCCTACAAC	0.697													A	182322476	G	A	182322476	3	1	57	1	0	0	0	0	1	0	0	0	7878	1087	38	1	97	1	ITGA4	2	182322476	Missense_Mutation	SNP	G	TCGA-BR-7957-01A-11D-2201-08	96046362	182322476	60876897	9	43388											
DYTN	391475	broad.mit.edu	37	chr2	207527632	207527632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgaaaaccttacctgatGgcgtttctagattgaaggca	10	7	1	4			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr2:207527632G>A	uc002vbr.1	-	11	1745	c.1628C>T	c.(1627-1629)CCA>CTA	p.P543L		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	dystrotelin	543						plasma membrane	zinc ion binding			ovary(1)|central_nervous_system(1)	2				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CTTACCTGATGGCGTTTCTAG	0.418													A	207527632	G	A	207527632	3	1	57	1	0	0	0	0	1	0	0	0	4861	1348	47	4	116	4	DYTN	2	207527632	Missense_Mutation	SNP	G	TCGA-BR-7957-01A-11D-2201-08	25205156	207527632	35671741	10	43389											
VIL1	7429	broad.mit.edu	37	chr2	219290514	219290514	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagagcgaggccttccgaggCtacttcaagcaaggccttgt	13	11	1	1			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr2:219290514C>G	uc002via.2	+	4	392	c.327C>G	c.(325-327)GGC>GGG	p.G109G	VIL1_uc010zke.1_Intron|VIL1_uc002vib.2_Silent_p.G109G|VIL1_uc002vic.1_Silent_p.G109G	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	109	Core.|Necessary for homodimerization.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTTCCGAGGCTACTTCAAGC	0.617													G	219290514	C	G	219290514	2	3	57	1	0	0	0	0	0	0	0	1	17161	784	28	5		5	VIL1	2	219290514	Silent	SNP	C	TCGA-BR-7957-01A-11D-2201-08	11762882	219290514	23908859	11	43390											
CHL1	10752	broad.mit.edu	37	chr3	370003	370003	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcttcaaataaactgggaatCgctatgtcagaagaaataga	9	6	2	3			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr3:370003C>T	uc003bou.2	+	5	622	c.351C>T	c.(349-351)ATC>ATT	p.I117I	CHL1_uc003bot.2_Silent_p.I117I|CHL1_uc003bow.1_Silent_p.I117I|CHL1_uc011asi.1_Silent_p.I117I	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	117	Ig-like C2-type 1.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AACTGGGAATCGCTATGTCAG	0.363													T	370003	C	T	370003	2	4	57	1	0	0	0	0	0	0	0	1	3349	874	31	1		1	CHL1	3	370003	Silent	SNP	C	TCGA-BR-7957-01A-11D-2201-08		370003	197652427	12	43391											
PLCH1	23007	broad.mit.edu	37	chr3	155282805	155282805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtatgtattgtgagaggaaGcaatgtagtagttgcagagg	16	2	0	2			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr3:155282805G>A	uc011bok.1	-	7	1209	c.932C>T	c.(931-933)GCT>GTT	p.A311V	PLCH1_uc011boj.1_Missense_Mutation_p.A311V|PLCH1_uc011bol.1_Missense_Mutation_p.A293V	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	311	PI-PLC X-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTGAGAGGAAGCAATGTAGTA	0.488													A	155282805	G	A	155282805	3	1	57	1	0	0	0	0	1	0	0	0	12037	971	34	2	4232	2	PLCH1	3	155282805	Missense_Mutation	SNP	G	TCGA-BR-7957-01A-11D-2201-08	154912802	155282805	42739625	13	43392											
C4orf14	84273	broad.mit.edu	37	chr4	57839516	57839516	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaagaatgtccttccaactCttcctagaacaagttatagt	5	10	1	2			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr4:57839516C>T	uc003hck.2	-	3	1388	c.1313G>A	c.(1312-1314)AGA>AAA	p.R438K		NM_032313	NP_115689	Q8NC60	CD014_HUMAN	hypothetical protein LOC84273	438							GTP binding			ovary(1)|breast(1)	2	Glioma(25;0.08)|all_neural(26;0.181)					CCTTCCAACTCTTCCTAGAAC	0.343													T	57839516	C	T	57839516	3	4	57	1	0	0	0	0	1	0	0	0	2251	913	32	4	803	4	C4orf14	4	57839516	Missense_Mutation	SNP	C	TCGA-BR-7957-01A-11D-2201-08		57839516	133314760	14	43393											
PDLIM5	10611	broad.mit.edu	37	chr4	95539323	95539324	+	In_Frame_Ins	INS	-	-	GCA													tcatcaagtcaccaagctggINScaacggccaaaccaaggagg							TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr4:95539322_95539323G>GGCA	uc003hti.3	+	7	1239_1240	c.1088_1089G>GGCA	c.(1087-1089)tgg>tGGCA	p.W363W	PDLIM5_uc011cdx.1_In_Frame_Ins_p.W260W|PDLIM5_uc003htj.3_In_Frame_Ins_p.W38W|PDLIM5_uc003htk.3_In_Frame_Ins_p.W392W|PDLIM5_uc011cdy.2_In_Frame_Ins_p.W241W|PDLIM5_uc003hth.3_In_Frame_Ins_p.W254W|PDLIM5_uc003htl.3_In_Frame_Ins_p.W38W	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA.	363					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TCACCAAGCTGGCAACGGCCAA	0.505													GCA	95539324	-	GCA	95539323	7	5	57	1	0	1	1	0	0	0	0	0	11683	1212	42	0	1275	0	PDLIM5	4	95539323	In_Frame_Ins	INS	-	TCGA-BR-7957-01A-11D-2201-08	37699807	95539323	95614953	15	43394											
DST	667	broad.mit.edu	37	chr6	56535574	56535574	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcttttgcagacatatccTctgactctccagtaacatgg	6	12	3	2			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr6:56535574T>C	uc003pdf.2	-	9	1008	c.980A>G	c.(979-981)GAG>GGG	p.E327G	DST_uc003pcz.3_Missense_Mutation_p.E149G|DST_uc011dxj.1_Missense_Mutation_p.E178G|DST_uc011dxk.1_Missense_Mutation_p.E189G|DST_uc011dxl.1_Missense_Mutation_p.E178G|DST_uc003pde.2_Missense_Mutation_p.E265G	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	149	Actin-binding.				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)			AGACATATCCTCTGACTCTCC	0.393													C	56535574	T	C	56535574	3	2	57	1	0	0	0	0	1	0	0	0	4783	1566	54	3		3	DST	6	56535574	Missense_Mutation	SNP	T	TCGA-BR-7957-01A-11D-2201-08		56535574	114579493	16	43395											
FNDC1	84624	broad.mit.edu	37	chr6	159653822	159653822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaactccaatgcgccatcaCggtccaccatgtcctcctcc	5	20	1	0			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr6:159653822C>T	uc010kjv.2	+	11	2478	c.2278C>T	c.(2278-2280)CGG>TGG	p.R760W	FNDC1_uc010kjw.1_Missense_Mutation_p.R645W	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	760	Ser-rich.					extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGCGCCATCACGGTCCACCAT	0.622													T	159653822	C	T	159653822	3	4	57	1	0	0	0	0	1	0	0	0	5968	527	19	1	2320	1	FNDC1	6	159653822	Missense_Mutation	SNP	C	TCGA-BR-7957-01A-11D-2201-08	103118248	159653822	11461245	17	43396											
PRKAR1B	5575	broad.mit.edu	37	chr7	720223	720223	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggacacggcgtcctcctcGgtgtacacctcggcactcac	10	16	1	0	rs142687236	byFrequency	TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr7:720223G>A	uc003siu.1	-	4	424	c.318C>T	c.(316-318)ACC>ACT	p.T106T	PRKAR1B_uc003siv.2_Silent_p.T106T|PRKAR1B_uc003siw.1_Silent_p.T106T	NM_002735	NP_002726	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type	106	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity				0		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CGTCCTCCTCGGTGTACACCT	0.682													A	720223	G	A	720223	2	1	57	1	0	0	0	0	0	0	0	1	12504	1103	39	1		1	PRKAR1B	7	720223	Silent	SNP	G	TCGA-BR-7957-01A-11D-2201-08		720223	158418440	18	43397											
GPR141	353345	broad.mit.edu	37	chr7	37780620	37780620	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcattatgttgatggtgCagaagctacgccactcttta	8	9	3	2			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr7:37780620C>T	uc003tfm.1	+	1	625	c.625C>T	c.(625-627)CAG>TAG	p.Q209*	uc003tfl.2_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	209	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						GTTGATGGTGCAGAAGCTACG	0.413													T	37780620	C	T	37780620	4	4	57	1	0	0	0	0	0	1	0	0	6649	711	25	2	627	2	GPR141	7	37780620	Nonsense_Mutation	SNP	C	TCGA-BR-7957-01A-11D-2201-08	37060397	37780620	121358043	19	43398											
IMMP2L	83943	broad.mit.edu	37	chr7	110303717	110303717	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaacagattccaatttctGccagcgctctgggggccaca	10	12	2	2			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr7:110303717G>T	uc003vfq.1	-	6	912	c.469C>A	c.(469-471)CAG>AAG	p.Q157K	IMMP2L_uc010ljr.1_Missense_Mutation_p.Q157K	NM_032549	NP_115938	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane protease-like	157					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity				0				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		TCCAATTTCTGCCAGCGCTCT	0.483													T	110303717	G	T	110303717	3	4	57	1	0	0	0	0	1	0	0	0	7717	1328	46	5	62	5	IMMP2L	7	110303717	Missense_Mutation	SNP	G	TCGA-BR-7957-01A-11D-2201-08	72523097	110303717	48834946	20	43399											
GSDMC	56169	broad.mit.edu	37	chr8	130763792	130763792	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaataaatacttactttgCcagaagggttcctctattct	5	9	2	1			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr8:130763792C>T	uc003ysr.2	-	10	1821	c.939G>A	c.(937-939)TGG>TGA	p.W313*		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	melanoma-derived leucine zipper, extra-nuclear	313						mitochondrion				ovary(2)|skin(1)	3						ACTTACTTTGCCAGAAGGGTT	0.468													T	130763792	C	T	130763792	4	4	57	1	0	0	0	0	0	1	0	0	6818	740	26	2	607	2	GSDMC	8	130763792	Nonsense_Mutation	SNP	C	TCGA-BR-7957-01A-11D-2201-08		130763792	15600230	21	43400											
KDM4C	23081	broad.mit.edu	37	chr9	7174616	7174616	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagacattatccaaggggagAgaaagagacaaagagtgctg	13	6	0	4			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr9:7174616A>T	uc003zkh.2	+	22	3638	c.3058A>T	c.(3058-3060)AGA>TGA	p.R1020*	KDM4C_uc011lmk.1_Nonsense_Mutation_p.R765*|KDM4C_uc011lml.1_Nonsense_Mutation_p.R707*	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	1020					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1						CCAAGGGGAGAGAAAGAGACA	0.458													T	7174616	A	T	7174616	4	4	57	1	0	0	0	0	0	1	0	0	8130	296	11	5	3382	5	KDM4C	9	7174616	Nonsense_Mutation	SNP	A	TCGA-BR-7957-01A-11D-2201-08		7174616	134038815	22	43401											
DBC1	1620	broad.mit.edu	37	chr9	121930162	121930162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggacgtagaggcgtgagtCcatcttctgcagcaggtact	14	9	2	2			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr9:121930162C>T	uc004bkc.2	-	8	1942	c.1486G>A	c.(1486-1488)GAC>AAC	p.D496N		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	496					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						AGGCGTGAGTCCATCTTCTGC	0.572													T	121930162	C	T	121930162	3	4	57	1	0	0	0	0	1	0	0	0	4247	855	30	4	803	4	DBC1	9	121930162	Missense_Mutation	SNP	C	TCGA-BR-7957-01A-11D-2201-08	114755546	121930162	19283269	23	43402											
BARHL1	56751	broad.mit.edu	37	chr9	135464778	135464778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtaccgcggccccagcGcgccgccgcctgctctccag	11	21	1	0			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr9:135464778G>A	uc004cbp.1	+	3	1045	c.853G>A	c.(853-855)GCG>ACG	p.A285T		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	285						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		CGGCCCCAGCGCGCCGCCGCC	0.721													A	135464778	G	A	135464778	3	1	57	1	0	0	0	0	1	0	0	0	1313	1087	38	1	863	1	BARHL1	9	135464778	Missense_Mutation	SNP	G	TCGA-BR-7957-01A-11D-2201-08	13534616	135464778	5748653	24	43403											
ALOX5	240	broad.mit.edu	37	chr10	45891347	45891347	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacattctcaagcaacacCgacgtaaagaactggaaaca	6	11	2	1			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr10:45891347C>T	uc001jce.2	+	3	493	c.394C>T	c.(394-396)CGA>TGA	p.R132*	ALOX5_uc009xmt.2_Nonsense_Mutation_p.R132*|ALOX5_uc010qfg.1_Nonsense_Mutation_p.R132*	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	132	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			ovary(1)|pancreas(1)	2		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CAAGCAACACCGACGTAAAGA	0.453													T	45891347	C	T	45891347	4	4	57	1	0	0	0	0	0	1	0	0	540	644	23	1	404	1	ALOX5	10	45891347	Nonsense_Mutation	SNP	C	TCGA-BR-7957-01A-11D-2201-08		45891347	89643400	25	43404											
OR52N2	390077	broad.mit.edu	37	chr11	5841963	5841963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccatctgctaccccttacGctatgccaccatccttacca	5	18	1	0	rs147573020		TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr11:5841963G>A	uc010qzp.1	+	1	398	c.398G>A	c.(397-399)CGC>CAC	p.R133H	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N,	133	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACCCCTTACGCTATGCCACC	0.542													A	5841963	G	A	5841963	3	1	57	1	0	0	0	0	1	0	0	0	11128	1087	38	1	400	1	OR52N2	11	5841963	Missense_Mutation	SNP	G	TCGA-BR-7957-01A-11D-2201-08		5841963	129164553	26	43405											
OR4P4	81300	broad.mit.edu	37	chr11	55406142	55406143	+	Frame_Shift_Ins	INS	-	-	T													tacaactctttaccacccatINSttttttggaggcatagagat							TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr11:55406141_55406142A>AT	uc010rij.2	+	0	308_309	c.308_309A>AT	c.(307-309)catfs	p.H103fs		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H103L(2)|p.F105fs*4(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTTACCACCCATTTTTTTGGAG	0.436													T	55406143	-	T	55406142	7	5	57	1	0	1	1	0	0	0	0	0	11080	1490	52	0	311	0	OR4P4	11	55406142	Frame_Shift_Ins	INS	-	TCGA-BR-7957-01A-11D-2201-08	49564179	55406142	79600374	27	43406											
TSGA10IP	254187	broad.mit.edu	37	chr11	65721100	65721100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcaggccgagctgcggcGggcccggacacagcatgtac	16	14	0	0			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr11:65721100G>A	uc001ogk.1	+	7	1246	c.1214G>A	c.(1213-1215)CGG>CAG	p.R405Q	TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_RNA	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein	405	Potential.										0						GAGCTGCGGCGGGCCCGGACA	0.716													A	65721100	G	A	65721100	3	1	57	1	0	0	0	0	1	0	0	0	16615	1116	39	1	1232	1	TSGA10IP	11	65721100	Missense_Mutation	SNP	G	TCGA-BR-7957-01A-11D-2201-08	10314958	65721100	69285416	28	43407											
KCNA1	3736	broad.mit.edu	37	chr12	5021648	5021648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttctggtgggcggtggtGtccatgaccactgtaggata	15	8	1	1			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr12:5021648G>A	uc001qnh.2	+	2	2209	c.1104G>A	c.(1102-1104)GTG>GTA	p.V368V		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	368					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGGCGGTGGTGTCCATGACCA	0.547													A	5021648	G	A	5021648	2	1	57	1	0	0	0	0	0	0	0	1	8001	1364	48	4		4	KCNA1	12	5021648	Silent	SNP	G	TCGA-BR-7957-01A-11D-2201-08		5021648	128830247	29	43408											
SOX5	6660	broad.mit.edu	37	chr12	23687217	23687217	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatctacatctggatcatccTcttcctcgtcgtactcatca	4	14	6	0			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr12:23687217T>A	uc001rfw.2	-	15	2330	c.2228A>T	c.(2227-2229)GAG>GTG	p.E743V	SOX5_uc001rfx.2_Missense_Mutation_p.E730V|SOX5_uc001rfy.2_Missense_Mutation_p.E622V|SOX5_uc001rfv.2_Missense_Mutation_p.E357V|SOX5_uc010siv.1_Missense_Mutation_p.E730V	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	743					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						TGGATCATCCTCTTCCTCGTC	0.433													A	23687217	T	A	23687217	3	1	57	1	0	0	0	0	1	0	0	0	14954	1551	54	5	67	5	SOX5	12	23687217	Missense_Mutation	SNP	T	TCGA-BR-7957-01A-11D-2201-08	18665569	23687217	110164678	30	43409											
RIMBP2	23504	broad.mit.edu	37	chr12	130935771	130935771	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atctgcatcttgcgctaccgGatctcgacaggaaggtgggc	13	11	3	0			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr12:130935771G>C	uc001uil.2	-	5	586	c.422C>G	c.(421-423)TCC>TGC	p.S141C	RIMBP2_uc001uim.2_Missense_Mutation_p.S49C	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	141						cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGCGCTACCGGATCTCGACAG	0.637													C	130935771	G	C	130935771	3	2	57	1	0	0	0	0	1	0	0	0	13363	1174	41	5	2796	5	RIMBP2	12	130935771	Missense_Mutation	SNP	G	TCGA-BR-7957-01A-11D-2201-08	107248554	130935771	2916124	31	43410											
CEBPE	1053	broad.mit.edu	37	chr14	23586911	23586911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgatgttgttgcgctcccGcctcagccggtactcaaggc	13	14	2	0			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr14:23586911G>A	uc001wiv.1	-	2	805	c.631C>T	c.(631-633)CGG>TGG	p.R211W		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein epsilon	211	Basic motif.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TTGCGCTCCCGCCTCAGCCGG	0.617													A	23586911	G	A	23586911	3	1	57	1	0	0	0	0	1	0	0	0	3202	1086	38	1	218	1	CEBPE	14	23586911	Missense_Mutation	SNP	G	TCGA-BR-7957-01A-11D-2201-08		23586911	83762629	32	43411											
FANCM	57697	broad.mit.edu	37	chr14	45650889	45650889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcatgctgtcaaaaagcGcagatttcctataaacagag	7	9	2	2			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr14:45650889G>A	uc001wwd.3	+	16	4466	c.4367G>A	c.(4366-4368)CGC>CAC	p.R1456H	FANCM_uc010anf.2_Missense_Mutation_p.R1430H|FANCM_uc001wwe.3_Missense_Mutation_p.R992H|FANCM_uc010ang.2_Missense_Mutation_p.R670H	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1456					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						GTCAAAAAGCGCAGATTTCCT	0.313								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				A	45650889	G	A	45650889	3	1	57	1	0	0	0	0	1	0	0	0	5671	1087	38	1	4429	1	FANCM	14	45650889	Missense_Mutation	SNP	G	TCGA-BR-7957-01A-11D-2201-08	22063978	45650889	61698651	33	43412											
SYNE2	23224	broad.mit.edu	37	chr14	64457685	64457685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtaaaactcattgcagCgttgaagaacttaactgacg	10	7	1	3			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr14:64457685C>T	uc001xgm.2	+	21	2728	c.2498C>T	c.(2497-2499)GCG>GTG	p.A833V	SYNE2_uc001xgl.2_Missense_Mutation_p.A833V	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	833	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTCATTGCAGCGTTGAAGAAC	0.363													T	64457685	C	T	64457685	3	4	57	1	0	0	0	0	1	0	0	0	15443	768	27	1	2576	1	SYNE2	14	64457685	Missense_Mutation	SNP	C	TCGA-BR-7957-01A-11D-2201-08	18806796	64457685	42891855	34	43413											
GALNTL1	57452	broad.mit.edu	37	chr14	69814660	69814660	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctgccacctccaccttaAtgtcctcccctggatcccca	6	19	0	0			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr14:69814660A>G	uc010aqu.1	+	14	1573	c.1480A>G	c.(1480-1482)ATG>GTG	p.M494V	GALNTL1_uc001xla.1_Missense_Mutation_p.M494V|GALNTL1_uc001xlb.1_Missense_Mutation_p.M494V	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	494	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)	2				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		CTCCACCTTAATGTCCTCCCC	0.592													G	69814660	A	G	69814660	3	3	57	1	0	0	0	0	1	0	0	0	6221	101	4	3	1534	3	GALNTL1	14	69814660	Missense_Mutation	SNP	A	TCGA-BR-7957-01A-11D-2201-08	5356975	69814660	37534880	35	43414											
NEK9	91754	broad.mit.edu	37	chr14	75570609	75570609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattgaattcattgagtccaCaggccagcactttgcctgac	8	11	1	3			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr14:75570609C>T	uc001xrl.2	-	14	1821	c.1667G>A	c.(1666-1668)TGT>TAT	p.C556Y	NEK9_uc001xrk.2_Missense_Mutation_p.C56Y	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	556	RCC1 4.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(2)|stomach(2)|ovary(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00718)		ATTGAGTCCACAGGCCAGCAC	0.458													T	75570609	C	T	75570609	3	4	57	1	0	0	0	0	1	0	0	0	10331	478	17	4	1308	4	NEK9	14	75570609	Missense_Mutation	SNP	C	TCGA-BR-7957-01A-11D-2201-08	5755949	75570609	31778931	36	43415											
C14orf174	161394	broad.mit.edu	37	chr14	77845346	77845346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacgggtctctgaagatgacGaaacccagccagaaaaaggg	12	9	1	4			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr14:77845346G>A	uc001xtq.1	+	1	1585	c.1585G>A	c.(1585-1587)GAA>AAA	p.E529K	TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	hypothetical protein LOC161394	529											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)		TGAAGATGACGAAACCCAGCC	0.443													A	77845346	G	A	77845346	3	1	57	1	0	0	0	0	1	0	0	0	1759	1059	37	1	1587	1	C14orf174	14	77845346	Missense_Mutation	SNP	G	TCGA-BR-7957-01A-11D-2201-08	2274737	77845346	29504194	37	43416											
PLK1	5347	broad.mit.edu	37	chr16	23695207	23695207	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcacatcaaccccgtggCcgcctccctcatccagaaga	7	19	2	2			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr16:23695207C>A	uc002dlz.1	+	5	886	c.833C>A	c.(832-834)GCC>GAC	p.A278D		NM_005030	NP_005021	P53350	PLK1_HUMAN	polo-like kinase 1	278	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			lung(1)|skin(1)	2				GBM - Glioblastoma multiforme(48;0.0156)		AACCCCGTGGCCGCCTCCCTC	0.557													A	23695207	C	A	23695207	3	1	57	1	0	0	0	0	1	0	0	0	12094	739	26	5	851	5	PLK1	16	23695207	Missense_Mutation	SNP	C	TCGA-BR-7957-01A-11D-2201-08		23695207	66659546	38	43417											
CNTROB	116840	broad.mit.edu	37	chr17	7836460	7836460	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggatctcctgagtgattcAtcagaaccccctgggctcaa	10	12	4	3			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr17:7836460A>C	uc002gjq.2	+	2	982	c.63A>C	c.(61-63)TCA>TCC	p.S21S	TRAPPC1_uc002gjo.1_5'Flank|CNTROB_uc002gjp.2_Silent_p.S21S|CNTROB_uc002gjr.2_5'Flank	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	21					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)				TGAGTGATTCATCAGAACCCC	0.602													C	7836460	A	C	7836460	2	2	57	1	0	0	0	0	0	0	0	1	3651	204	8	5		5	CNTROB	17	7836460	Silent	SNP	A	TCGA-BR-7957-01A-11D-2201-08		7836460	73358750	39	43418											
ULK2	9706	broad.mit.edu	37	chr17	19748626	19748626	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactcactcaccatgtacatCggggatccacacagtgttgc	8	14	2	0			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr17:19748626C>T	uc002gwm.3	-	7	1043	c.534G>A	c.(532-534)CCG>CCA	p.P178P	ULK2_uc002gwn.2_Silent_p.P178P	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	178	Protein kinase.				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CCATGTACATCGGGGATCCAC	0.383													T	19748626	C	T	19748626	2	4	57	1	0	0	0	0	0	0	0	1	16973	871	31	1		1	ULK2	17	19748626	Silent	SNP	C	TCGA-BR-7957-01A-11D-2201-08	11912166	19748626	61446584	40	43419											
ERBB2	2064	broad.mit.edu	37	chr17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctttctacggacgtgggatCctgcaccctcgtctgccccc	9	18	2	0			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr17:37868208C>T	uc002hso.2	+	8	1167	c.929C>T	c.(928-930)TCC>TTC	p.S310F	ERBB2_uc002hsm.2_Missense_Mutation_p.S280F|ERBB2_uc010cwa.2_Missense_Mutation_p.S295F|ERBB2_uc002hsp.2_Missense_Mutation_p.S113F|ERBB2_uc010cwb.2_Missense_Mutation_p.S310F|ERBB2_uc010wek.1_Missense_Mutation_p.S34F|ERBB2_uc002hsl.2_Missense_Mutation_p.S280F|ERBB2_uc002hsn.1_Missense_Mutation_p.S310F	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	310	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(2)|p.S310Y(1)		lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			T	37868208	C	T	37868208	3	4	57	1	0	0	0	0	1	0	0	0	5206	855	30	4	959	4	ERBB2	17	37868208	Missense_Mutation	SNP	C	TCGA-BR-7957-01A-11D-2201-08	18119582	37868208	43327002	41	43420											
AXIN2	8313	broad.mit.edu	37	chr17	63537662	63537662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttactgcccacacgataagGaggaattccatctctaaggg	9	11	1	0			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr17:63537662G>A	uc002jfi.2	-	4	1259	c.970C>T	c.(970-972)CCT>TCT	p.P324S	AXIN2_uc010den.1_Missense_Mutation_p.P324S|AXIN2_uc002jfh.2_Missense_Mutation_p.P324S	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	324					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						ACACGATAAGGAGGAATTCCA	0.473									Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				A	63537662	G	A	63537662	3	1	57	1	0	0	0	0	1	0	0	0	1237	1174	41	4	1593	4	AXIN2	17	63537662	Missense_Mutation	SNP	G	TCGA-BR-7957-01A-11D-2201-08	25669454	63537662	17657548	42	43421											
HOOK2	29911	broad.mit.edu	37	chr19	12876768	12876768	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcttgcccccctgctcctgCagggctttctgcaggtcctc	10	17	2	0			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr19:12876768C>A	uc002muy.2	-	16	1743	c.1572G>T	c.(1570-1572)CTG>CTT	p.L524L	HOOK2_uc010xmq.1_5'UTR|HOOK2_uc002muz.2_Silent_p.L524L	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	524	Sufficient for interaction with microtubules.|Potential.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			ovary(1)|breast(1)|skin(1)	3						CCTGCTCCTGCAGGGCTTTCT	0.647											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	12876768	C	A	12876768	2	1	57	1	0	0	0	0	0	0	0	1	7283	697	25	5		5	HOOK2	19	12876768	Silent	SNP	C	TCGA-BR-7957-01A-11D-2201-08		12876768	46252215	43	43422											
OR10H1	26539	broad.mit.edu	37	chr19	15918646	15918646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtagaggatctcggagaCggagagggcgcacaggaaga	19	6	1	4			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr19:15918646C>T	uc002nbq.2	-	1	291	c.202G>A	c.(202-204)GTC>ATC	p.V68I		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H,	68	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ATCTCGGAGACGGAGAGGGCG	0.642													T	15918646	C	T	15918646	3	4	57	1	0	0	0	0	1	0	0	0	10905	536	19	1	758	1	OR10H1	19	15918646	Missense_Mutation	SNP	C	TCGA-BR-7957-01A-11D-2201-08	3041878	15918646	43210337	44	43423											
POU2F2	5452	broad.mit.edu	37	chr19	42597998	42597998	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacctgttgtgctcagactgCtggaagcttgggacaacggt	14	9	1	1			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr19:42597998C>A	uc002osp.2	-	12	1248	c.1181G>T	c.(1180-1182)AGC>ATC	p.S394I	POU2F2_uc002osn.2_Missense_Mutation_p.S378I|POU2F2_uc002oso.2_Missense_Mutation_p.S167I|POU2F2_uc002osq.2_Missense_Mutation_p.S378I|POU2F2_uc002osr.1_Missense_Mutation_p.S394I	NM_002698	NP_002689	P09086	PO2F2_HUMAN	POU domain, class 2, transcription factor 2	394	Leucine-zipper.				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2		Prostate(69;0.059)				GCTCAGACTGCTGGAAGCTTG	0.617													A	42597998	C	A	42597998	3	1	57	1	0	0	0	0	1	0	0	0	12272	797	28	5	270	5	POU2F2	19	42597998	Missense_Mutation	SNP	C	TCGA-BR-7957-01A-11D-2201-08	26679352	42597998	16530985	45	43424											
PNMAL2	57469	broad.mit.edu	37	chr19	46997652	46997652	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcgctccagcccagcgactcGataacagaagcgattttcaa	8	13	1	1			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr19:46997652G>C	uc002pes.2	-	1	1518	c.1071C>G	c.(1069-1071)ATC>ATG	p.I357M	uc002peu.1_5'Flank	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	357										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCAGCGACTCGATAACAGAAG	0.587													C	46997652	G	C	46997652	3	2	57	1	0	0	0	0	1	0	0	0	12158	1048	37	5	840	5	PNMAL2	19	46997652	Missense_Mutation	SNP	G	TCGA-BR-7957-01A-11D-2201-08	4399654	46997652	12131331	46	43425											
ZNF808	388558	broad.mit.edu	37	chr19	53057818	53057818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaacaaggttttcatgcGtaattcagtcctggctgtac	9	8	2	0			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr19:53057818G>A	uc010epq.1	+	5	1826	c.1649G>A	c.(1648-1650)CGT>CAT	p.R550H	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	550	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GTTTTCATGCGTAATTCAGTC	0.398													A	53057818	G	A	53057818	3	1	57	1	0	0	0	0	1	0	0	0	18170	1145	40	1	1659	1	ZNF808	19	53057818	Missense_Mutation	SNP	G	TCGA-BR-7957-01A-11D-2201-08	6060166	53057818	6071165	47	43426											
ZNF835	90485	broad.mit.edu	37	chr19	57175150	57175150	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagccgctgcactcgtaggGcttctccccggtgtgcacga	13	15	1	0			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr19:57175150G>T	uc010ygo.1	-	2	1483	c.1483C>A	c.(1483-1485)CCC>ACC	p.P495T	ZNF835_uc010ygn.1_Missense_Mutation_p.P473T	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						CACTCGTAGGGCTTCTCCCCG	0.662													T	57175150	G	T	57175150	3	4	57	1	0	0	0	0	1	0	0	0	18183	1203	42	5	198	5	ZNF835	19	57175150	Missense_Mutation	SNP	G	TCGA-BR-7957-01A-11D-2201-08	4117332	57175150	1953833	48	43427											
ZNF544	27300	broad.mit.edu	37	chr19	58774032	58774032	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattcattctggagagaaacCctatgaatgtagtgactgtg	10	6	2	3			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr19:58774032C>A	uc010euo.2	+	7	2534	c.2060C>A	c.(2059-2061)CCC>CAC	p.P687H	ZNF544_uc010yhw.1_RNA|ZNF544_uc010yhx.1_Missense_Mutation_p.P659H|ZNF544_uc010yhy.1_Missense_Mutation_p.P659H|ZNF544_uc002qrt.3_Missense_Mutation_p.P545H|ZNF544_uc002qru.3_Missense_Mutation_p.P545H|uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	zinc finger protein 544	687					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GGAGAGAAACCCTATGAATGT	0.468													A	58774032	C	A	58774032	3	1	57	1	0	0	0	0	1	0	0	0	17974	623	22	5	2074	5	ZNF544	19	58774032	Missense_Mutation	SNP	C	TCGA-BR-7957-01A-11D-2201-08	1598882	58774032	354951	49	43428											
C20orf186	149954	broad.mit.edu	37	chr20	31678530	31678530	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagctctgattcctctgggGatattgggaagtgtccagta	13	8	2	1			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr20:31678530G>A	uc010zue.1	+	8	1083	c.1068G>A	c.(1066-1068)GGG>GGA	p.G356G		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	356						cytoplasm|extracellular region	lipid binding				0						TTCCTCTGGGGATATTGGGAA	0.592													A	31678530	G	A	31678530	2	1	57	1	0	0	0	0	0	0	0	1	2098	1161	41	4		4	C20orf186	20	31678530	Silent	SNP	G	TCGA-BR-7957-01A-11D-2201-08		31678530	31346990	50	43429											
DSCAM	1826	broad.mit.edu	37	chr21	42064772	42064772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtctttctcccatgagaCgacagtgatgtacgcctcca	9	12	2	2			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr21:42064772C>T	uc002yyq.1	-	3	924	c.472G>A	c.(472-474)GTC>ATC	p.V158I	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	158	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCCATGAGACGACAGTGATG	0.517													T	42064772	C	T	42064772	3	4	57	1	0	0	0	0	1	0	0	0	4768	536	19	1	5690	1	DSCAM	21	42064772	Missense_Mutation	SNP	C	TCGA-BR-7957-01A-11D-2201-08		42064772	6065123	51	43430											
POTEH	23784	broad.mit.edu	37	chr22	16287790	16287790	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgctccccctgcaccaggcGaagcagtggcggcaccactt	11	18	0	0			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chr22:16287790G>A	uc010gqp.2	-	1	148	c.96C>T	c.(94-96)TTC>TTT	p.F32F	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	32										skin(1)	1						TGCACCAGGCGAAGCAGTGGC	0.582													A	16287790	G	A	16287790	2	1	57	1	0	0	0	0	0	0	0	1	12267	1049	37	1		1	POTEH	22	16287790	Silent	SNP	G	TCGA-BR-7957-01A-11D-2201-08		16287790	35016776	52	43431											
KAL1	3730	broad.mit.edu	37	chrX	8591678	8591678	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttggcactggtgtttccTcaggtcccctgattccttgc	10	13	1	1			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chrX:8591678T>C	uc004csf.2	-	3	439	c.289A>G	c.(289-291)AGG>GGG	p.R97G		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	97					axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						TGGTGTTTCCTCAGGTCCCCT	0.433													C	8591678	T	C	8591678	3	2	57	1	0	0	0	0	1	0	0	0	7974	1550	54	3	1801	3	KAL1	23	8591678	Missense_Mutation	SNP	T	TCGA-BR-7957-01A-11D-2201-08		8591678	146678882	53	43432											
RBBP7	5931	broad.mit.edu	37	chrX	16870202	16870202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattcaggcggcggtcagtaCcacttgaagccagaatagtt	11	10	2	2			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chrX:16870202C>T	uc004cxt.2	-	9	1365	c.1007G>A	c.(1006-1008)GGT>GAT	p.G336D	RBBP7_uc004cxs.1_Missense_Mutation_p.G380D|RBBP7_uc004cxu.2_Missense_Mutation_p.G327D	NM_002893	NP_002884	Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	336	WD 6.				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			upper_aerodigestive_tract(1)|ovary(1)	2	Hepatocellular(33;0.0997)					GCGGTCAGTACCACTTGAAGC	0.398													T	16870202	C	T	16870202	3	4	57	1	0	0	0	0	1	0	0	0	13104	507	18	4	286	4	RBBP7	23	16870202	Missense_Mutation	SNP	C	TCGA-BR-7957-01A-11D-2201-08	8278524	16870202	138400358	54	43433											
SMS	6611	broad.mit.edu	37	chrX	21985429	21985429	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacctacacaaacaagaaCggcaggtgagcagtctccag	10	12	1	2			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chrX:21985429C>T	uc004dag.2	+	2	266	c.165C>T	c.(163-165)AAC>AAT	p.N55N	SMS_uc011mjq.1_Translation_Start_Site|SMS_uc004daf.1_Silent_p.N55N	NM_004595	NP_004586	P52788	SPSY_HUMAN	spermine synthase	55					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			ovary(1)	1					Spermine(DB00127)	CAAACAAGAACGGCAGGTGAG	0.527													T	21985429	C	T	21985429	2	4	57	1	0	0	0	0	0	0	0	1	14813	535	19	1		1	SMS	23	21985429	Silent	SNP	C	TCGA-BR-7957-01A-11D-2201-08	5115227	21985429	133285131	55	43434											
IQSEC2	23096	broad.mit.edu	37	chrX	53280269	53280269	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttcctttgactcccgcttctCcagctgggctgaccctggct	9	16	1	2			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chrX:53280269C>G	uc004dsd.2	-	5	1690	c.1489G>C	c.(1489-1491)GAG>CAG	p.E497Q	IQSEC2_uc004dsc.2_Missense_Mutation_p.E292Q	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	487					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						TCCCGCTTCTCCAGCTGGGCT	0.552													G	53280269	C	G	53280269	3	3	57	1	0	0	0	0	1	0	0	0	7818	864	30	5	3021	5	IQSEC2	23	53280269	Missense_Mutation	SNP	C	TCGA-BR-7957-01A-11D-2201-08	31294840	53280269	101990291	56	43435											
PCDH19	57526	broad.mit.edu	37	chrX	99662755	99662755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcgcgtgcggtcgttgaCgtagccatagaaggagtaga	15	9	0	3			TCGA-BR-7957-01A-11D-2201-08	TCGA-BR-7957-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cbf629c-ae30-41c6-855b-a96ebeb809dd	6f504eb7-0b62-48f9-b223-0a7e8ec9a606	g.chrX:99662755C>T	uc010nmz.2	-	1	2517	c.841G>A	c.(841-843)GTC>ATC	p.V281I	PCDH19_uc004efw.3_Missense_Mutation_p.V281I|PCDH19_uc004efx.3_Missense_Mutation_p.V281I	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	281	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						CGGTCGTTGACGTAGCCATAG	0.602													T	99662755	C	T	99662755	3	4	57	1	0	0	0	0	1	0	0	0	11514	536	19	1	2629	1	PCDH19	23	99662755	Missense_Mutation	SNP	C	TCGA-BR-7957-01A-11D-2201-08	46382486	99662755	55607805	57	43436											
PLEKHN1	84069	broad.mit.edu	37	chr1	908657	908657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacccgggagcaaggcccGggcagagggccgcggccctg	18	15	1	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:908657G>A	uc001ace.2	+	11	1435	c.1400G>A	c.(1399-1401)CGG>CAG	p.R467Q	PLEKHN1_uc001acd.2_Missense_Mutation_p.R415Q|PLEKHN1_uc001acf.2_Intron	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N	467											0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		AGCAAGGCCCGGGCAGAGGGC	0.706													A	908657	G	A	908657	3	1	58	1	0	0	0	0	1	0	0	0	12083	1116	39	1	1326	1	PLEKHN1	1	908657	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08		908657	248341964	1	43437											
TP73	7161	broad.mit.edu	37	chr1	3649564	3649564	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggccctgacgagtgggcggActtcggcttcgacctgcccg	15	15	0	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:3649564A>G	uc001akp.2	+	14	1942	c.1832A>G	c.(1831-1833)GAC>GGC	p.D611G	TP73_uc001akq.2_Intron|TP73_uc001akr.2_Missense_Mutation_p.D562G|TP73_uc009vlk.1_3'UTR|TP73_uc001aks.2_3'UTR|TP73_uc010nzk.1_Missense_Mutation_p.D540G|TP73_uc010nzl.1_Missense_Mutation_p.D160G	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	611					cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GAGTGGGCGGACTTCGGCTTC	0.706													G	3649564	A	G	3649564	3	3	58	1	0	0	0	0	1	0	0	0	16390	275	10	3	1925	3	TP73	1	3649564	Missense_Mutation	SNP	A	TCGA-BR-7958-01A-21D-2340-08	2740907	3649564	245601057	2	43438											
TARDBP	23435	broad.mit.edu	37	chr1	11073960	11073960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtgtccggctggtagaagGaattctgcatgccccagatg	14	9	1	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:11073960G>A	uc001art.2	+	2	310	c.176G>A	c.(175-177)GGA>GAA	p.G59E	TARDBP_uc010oap.1_5'UTR	NM_007375	NP_031401	Q13148	TADBP_HUMAN	TAR DNA binding protein	59					3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		CTGGTAGAAGGAATTCTGCAT	0.502													A	11073960	G	A	11073960	3	1	58	1	0	0	0	0	1	0	0	0	15554	1174	41	4	178	4	TARDBP	1	11073960	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	7424396	11073960	238176661	3	43439											
PRAMEF12	390999	broad.mit.edu	37	chr1	12837238	12837238	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagcatctctcttggtgcccGagcatccgtcagctaaaaga	9	12	3	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:12837238G>A	uc001aui.2	+	3	975	c.948G>A	c.(946-948)CCG>CCA	p.P316P		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	316										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGGTGCCCGAGCATCCGTC	0.572													A	12837238	G	A	12837238	2	1	58	1	0	0	0	0	0	0	0	1	12428	1045	37	1		1	PRAMEF12	1	12837238	Silent	SNP	G	TCGA-BR-7958-01A-21D-2340-08	1763278	12837238	236413383	4	43440											
MACF1	23499	broad.mit.edu	37	chr1	39801200	39801200	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagagagagaagagggaggtGattgtagaagaaagtatcag	16	1	1	6			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:39801200G>A	uc010oiu.1	+	1	4391	c.4260G>A	c.(4258-4260)GTG>GTA	p.V1420V	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	2985					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGGGAGGTGATTGTAGAAG	0.408													A	39801200	G	A	39801200	2	1	58	1	0	0	0	0	0	0	0	1	9144	1277	45	4		4	MACF1	1	39801200	Silent	SNP	G	TCGA-BR-7958-01A-21D-2340-08	26963962	39801200	209449421	5	43441											
NASP	4678	broad.mit.edu	37	chr1	46083181	46083181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagatgatgcaaagaaagCcaaacaagagccggaggtga	13	6	0	5			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:46083181C>T	uc001coi.1	+	14	2306	c.2204C>T	c.(2203-2205)GCC>GTC	p.A735V	NASP_uc001coh.1_Missense_Mutation_p.A737V|NASP_uc001coj.1_Missense_Mutation_p.A396V|NASP_uc010olr.1_Missense_Mutation_p.A671V|NASP_uc001col.1_Missense_Mutation_p.A243V	NM_002482	NP_002473	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein isoform 2	735					blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GCAAAGAAAGCCAAACAAGAG	0.468													T	46083181	C	T	46083181	3	4	58	1	0	0	0	0	1	0	0	0	10172	739	26	2	2335	2	NASP	1	46083181	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	6281981	46083181	203167440	6	43442											
EVI5	7813	broad.mit.edu	37	chr1	93073222	93073222	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcagaaagatactgcacTttctcctgtaggctaatcac	8	10	2	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:93073222T>G	uc001dox.2	-	15	1852	c.1842A>C	c.(1840-1842)AAA>AAC	p.K614N	EVI5_uc010otf.1_Missense_Mutation_p.K625N|EVI5_uc001doy.1_RNA	NM_005665	NP_005656	O60447	EVI5_HUMAN	ecotropic viral integration site 5	614	Targeting to the centrosomes.|Potential.|Dimerization.|Interaction with AURKB and INCENP.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			ovary(1)|breast(1)	2		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GATACTGCACTTTCTCCTGTA	0.363													G	93073222	T	G	93073222	3	3	58	1	0	0	0	0	1	0	0	0	5289	1606	56	5	606	5	EVI5	1	93073222	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08	46990041	93073222	156177399	7	43443											
CCDC76	54482	broad.mit.edu	37	chr1	100613741	100613741	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccagcgaatgagtagttGggcaacttgtgggatgcgga	15	6	0	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:100613741G>A	uc001dsv.2	+	10	1128	c.1109G>A	c.(1108-1110)TGG>TAG	p.W370*	CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Intron	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	coiled-coil domain containing 76	370					tRNA processing		metal ion binding|methyltransferase activity			ovary(1)	1		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		ATGAGTAGTTGGGCAACTTGT	0.433													A	100613741	G	A	100613741	4	1	58	1	0	0	0	0	0	1	0	0	2850	1357	47	4	1147	4	CCDC76	1	100613741	Nonsense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	7540519	100613741	148636880	8	43444											
FNDC7	163479	broad.mit.edu	37	chr1	109275933	109275933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaaattatataggctggGccctaatggcatccggatct	12	8	1	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:109275933G>A	uc001dvx.2	+	10	1919	c.1919G>A	c.(1918-1920)GGC>GAC	p.G640D	FNDC7_uc010ova.1_Missense_Mutation_p.G407D	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	641	Fibronectin type-III 8.					extracellular region				ovary(1)|skin(1)	2		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TATAGGCTGGGCCCTAATGGC	0.478													A	109275933	G	A	109275933	3	1	58	1	0	0	0	0	1	0	0	0	5973	1203	42	2	1957	2	FNDC7	1	109275933	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	8662192	109275933	139974688	9	43445											
KCND3	3752	broad.mit.edu	37	chr1	112329676	112329676	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggacgccactcaaggagcAgatggagccgaagatcttcc	12	12	2	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:112329676A>G	uc001ebu.1	-	3	1639	c.1159T>C	c.(1159-1161)TGC>CGC	p.C387R	KCND3_uc001ebv.1_Missense_Mutation_p.C387R	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	387	Helical; Name=Segment S6; (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTCAAGGAGCAGATGGAGCCG	0.527													G	112329676	A	G	112329676	3	3	58	1	0	0	0	0	1	0	0	0	8020	188	7	3	832	3	KCND3	1	112329676	Missense_Mutation	SNP	A	TCGA-BR-7958-01A-21D-2340-08	3053743	112329676	136920945	10	43446											
AMPD1	270	broad.mit.edu	37	chr1	115218621	115218621	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaattcttggaacggaacacAtcactagaggcaagaatgaa	9	7	2	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:115218621A>C	uc001efe.1	-	11	1476	c.1392T>G	c.(1390-1392)GAT>GAG	p.D464E	AMPD1_uc001eff.1_Missense_Mutation_p.D460E	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	464					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AACGGAACACATCACTAGAGG	0.438													C	115218621	A	C	115218621	3	2	58	1	0	0	0	0	1	0	0	0	585	214	8	5	875	5	AMPD1	1	115218621	Missense_Mutation	SNP	A	TCGA-BR-7958-01A-21D-2340-08	2888945	115218621	134032000	11	43447											
IGSF3	3321	broad.mit.edu	37	chr1	117156429	117156429	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctccctcggaacgctttcGggtcatagcataccacgacc	10	15	1	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:117156429G>T	uc001egr.1	-	4	1495	c.790C>A	c.(790-792)CGA>AGA	p.R264R	IGSF3_uc001egq.1_Silent_p.R264R	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	264	Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GAACGCTTTCGGGTCATAGCA	0.582													T	117156429	G	T	117156429	2	4	58	1	0	0	0	0	0	0	0	1	7601	1124	39	5		5	IGSF3	1	117156429	Silent	SNP	G	TCGA-BR-7958-01A-21D-2340-08	1937808	117156429	132094192	12	43448											
FLG2	388698	broad.mit.edu	37	chr1	152323428	152323428	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttgttgagatccagcTtggccctgaatgtgtcctga	11	9	1	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:152323428T>G	uc001ezw.3	-	3	6907	c.6834A>C	c.(6832-6834)CAA>CAC	p.Q2278H	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	2278							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGATCCAGCTTGGCCCTGAA	0.517													G	152323428	T	G	152323428	3	3	58	1	0	0	0	0	1	0	0	0	5923	1606	56	5	345	5	FLG2	1	152323428	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08	35166999	152323428	96927193	13	43449											
CFHR2	3080	broad.mit.edu	37	chr1	196927133	196927146	+	Frame_Shift_Del	DEL	GTATCAACTTGAGG	GTATCAACTTGAGG	-													gagtaccagtgccagaacttGtatcaacttgagggtaacaa							TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:196927132_196927145TGTATCAACTTGAGG>T	uc001gtq.1	+	3	619_632	c.542_555TGTATCAACTTGAGG>T	c.(541-555)ttgtatcaacttgagfs	p.L181fs	CFHR2_uc001gtr.1_Frame_Shift_Del_p.L57fs	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	181	Sushi 3.					extracellular region		p.Q183K(1)		large_intestine(2)|ovary(1)|skin(3)	6						TGCCAGAACTTGTATCAACTTGAGGGTAACAATC	0.402													-	196927146	GTATCAACTTGAGG	-	196927133	7	5	58	1	0	1	0	1	0	0	0	0	3285	1368	48	0	557	0	CFHR2	1	196927133	Frame_Shift_Del	DEL	GTATCAACTTGAGG	TCGA-BR-7958-01A-21D-2340-08	44603705	196927133	52323488	14	43450											
FAM58B	339521	broad.mit.edu	37	chr1	200183331	200183331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggagtcgaggtgcccgccGaggtcgaggctgagaagctg	18	9	0	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:200183331G>A	uc009wzi.1	+	1	676	c.640G>A	c.(640-642)GAG>AAG	p.E214K		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	family with sequence similarity 58 member B	214					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding				0	Prostate(682;0.19)					GGTGCCCGCCGAGGTCGAGGC	0.562													A	200183331	G	A	200183331	3	1	58	1	0	0	0	0	1	0	0	0	5591	1059	37	1	642	1	FAM58B	1	200183331	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	3256198	200183331	49067290	15	43451											
ESRRG	2104	broad.mit.edu	37	chr1	216680423	216680423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcatcttgccagctcgaCgagggtcttccatgtgctgg	12	12	3	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:216680423C>T	uc001hkw.1	-	7	1401	c.1235G>A	c.(1234-1236)CGT>CAT	p.R412H	ESRRG_uc001hky.1_Missense_Mutation_p.R389H|ESRRG_uc009xdp.1_Missense_Mutation_p.R389H|ESRRG_uc001hkz.1_Missense_Mutation_p.R350H|ESRRG_uc010puc.1_Missense_Mutation_p.R389H|ESRRG_uc001hla.1_Missense_Mutation_p.R389H|ESRRG_uc001hlb.1_Missense_Mutation_p.R389H|ESRRG_uc010pud.1_Missense_Mutation_p.R220H|ESRRG_uc001hlc.1_Missense_Mutation_p.R389H|ESRRG_uc001hld.1_Missense_Mutation_p.R389H|ESRRG_uc001hkx.1_Missense_Mutation_p.R424H|ESRRG_uc009xdo.1_Missense_Mutation_p.R389H	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	412					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GCCAGCTCGACGAGGGTCTTC	0.507													T	216680423	C	T	216680423	3	4	58	1	0	0	0	0	1	0	0	0	5262	536	19	1	145	1	ESRRG	1	216680423	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	16497092	216680423	32570198	16	43452											
WDR26	80232	broad.mit.edu	37	chr1	224588663	224588663	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatacttacacactgatagaActgcccacgctgacctccag	6	14	0	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:224588663A>C	uc001hop.3	-	9	1333	c.967T>G	c.(967-969)TTC>GTC	p.F323V	WDR26_uc001hoq.3_Missense_Mutation_p.F307V|WDR26_uc010pvh.1_Missense_Mutation_p.F30V	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	WD repeat domain 26 isoform a	470	WD 3.					cytoplasm|nucleus					0				GBM - Glioblastoma multiforme(131;0.0104)		CACTGATAGAACTGCCCACGC	0.428													C	224588663	A	C	224588663	3	2	58	1	0	0	0	0	1	0	0	0	17280	43	2	5	601	5	WDR26	1	224588663	Missense_Mutation	SNP	A	TCGA-BR-7958-01A-21D-2340-08	7908240	224588663	24661958	17	43453											
LYST	1130	broad.mit.edu	37	chr1	235916455	235916455	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttaaaatttggagaagaAgtaaaagagcattatgcaag	9	2	0	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:235916455A>C	uc001hxj.2	-	26	7524	c.7349T>G	c.(7348-7350)CTT>CGT	p.L2450R	LYST_uc009xga.1_Missense_Mutation_p.L32R	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2450	Poly-Leu.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTGGAGAAGAAGTAAAAGAGC	0.368									Chediak-Higashi_syndrome				C	235916455	A	C	235916455	3	2	58	1	0	0	0	0	1	0	0	0	9128	72	3	5	4168	5	LYST	1	235916455	Missense_Mutation	SNP	A	TCGA-BR-7958-01A-21D-2340-08	11327792	235916455	13334166	18	43454											
BIRC6	57448	broad.mit.edu	37	chr2	32673903	32673903	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catttgatccagtcctctttGatttggagatgagtggctct	10	8	2	4			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:32673903G>A	uc010ezu.2	+	22	4659	c.4525G>A	c.(4525-4527)GAT>AAT	p.D1509N		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1509					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					AGTCCTCTTTGATTTGGAGAT	0.338													A	32673903	G	A	32673903	3	1	58	1	0	0	0	0	1	0	0	0	1438	1290	45	4	4611	4	BIRC6	2	32673903	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08		32673903	210525470	19	43455											
LHCGR	3973	broad.mit.edu	37	chr2	48915121	48915121	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaaaagaaccagtaaaacTttagagttggttactgtgat	8	4	0	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:48915121T>G	uc002rwu.3	-	11	1885	c.1815A>C	c.(1813-1815)AAA>AAC	p.K605N	GTF2A1L_uc002rwt.2_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	605	Extracellular (Potential).				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|lung(2)|breast(2)|skin(1)	8		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CCAGTAAAACTTTAGAGTTGG	0.378									Familial_Male-Limited_Precocious_Puberty				G	48915121	T	G	48915121	3	3	58	1	0	0	0	0	1	0	0	0	8762	1606	56	5	288	5	LHCGR	2	48915121	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08	16241218	48915121	194284252	20	43456											
SMYD5	10322	broad.mit.edu	37	chr2	73453032	73453032	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaaggagaGccagaagatgcagagctggg	21	4	0	4	rs147445448		TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:73453032G>T	uc002siw.2	+	13	1244	c.1215G>T	c.(1213-1215)GAG>GAT	p.E405D	SMYD5_uc010yre.1_Missense_Mutation_p.E289D|SMYD5_uc002six.1_RNA	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	405	Glu-rich.						metal ion binding				0						aggaagGAGAGCCAGAAGATG	0.458													T	73453032	G	T	73453032	3	4	58	1	0	0	0	0	1	0	0	0	14825	962	34	5	1265	5	SMYD5	2	73453032	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	24537911	73453032	169746341	21	43457											
SEMA4F	10505	broad.mit.edu	37	chr2	74907203	74907203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgaagatgagcggttgcCgctggccctggccaagaggg	16	11	0	4	rs149150975		TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:74907203C>T	uc002sna.1	+	14	2291	c.2180C>T	c.(2179-2181)CCG>CTG	p.P727L	SEMA4F_uc010ffr.1_Missense_Mutation_p.P339L|SEMA4F_uc002snb.1_Missense_Mutation_p.P339L|SEMA4F_uc002snc.1_Missense_Mutation_p.P572L	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	727	Cytoplasmic (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4						GAGCGGTTGCCGCTGGCCCTG	0.627													T	74907203	C	T	74907203	3	4	58	1	0	0	0	0	1	0	0	0	14035	652	23	1	2234	1	SEMA4F	2	74907203	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	1454171	74907203	168292170	22	43458											
LYG1	129530	broad.mit.edu	37	chr2	99901213	99901213	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggatttctttgattctagtaGtcagaacttcagttgtctgg	10	6	5	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:99901213G>C	uc002szy.2	-	6	654	c.404C>G	c.(403-405)ACT>AGT	p.T135S	MRPL30_uc002szl.1_Intron|LYG1_uc010yvo.1_Missense_Mutation_p.T135S	NM_174898	NP_777558	Q8N1E2	LYG1_HUMAN	lysozyme g-like protein 1 precursor	135					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity				0						GATTCTAGTAGTCAGAACTTC	0.512													C	99901213	G	C	99901213	3	2	58	1	0	0	0	0	1	0	0	0	9104	1029	36	5	188	5	LYG1	2	99901213	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	24994010	99901213	143298160	23	43459											
LRP1B	53353	broad.mit.edu	37	chr2	141533778	141533778	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggttcctagctgggctaAgttttggtctgcccaccaca	11	12	1	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:141533778A>C	uc002tvj.1	-	33	6361	c.5389T>G	c.(5389-5391)TTA>GTA	p.L1797V		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1797	Extracellular (Potential).|LDL-receptor class B 18.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGCTGGGCTAAGTTTTGGTCT	0.338										TSP Lung(27;0.18)			C	141533778	A	C	141533778	3	2	58	1	0	0	0	0	1	0	0	0	8955	69	3	5	8646	5	LRP1B	2	141533778	Missense_Mutation	SNP	A	TCGA-BR-7958-01A-21D-2340-08	41632565	141533778	101665595	24	43460											
LRP1B	53353	broad.mit.edu	37	chr2	141598583	141598583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttgccacattaatttgcGtttcatcaaattctgagcta	6	10	3	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:141598583G>A	uc002tvj.1	-	30	5990	c.5018C>T	c.(5017-5019)ACG>ATG	p.T1673M		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1673	Extracellular (Potential).|LDL-receptor class B 15.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTAATTTGCGTTTCATCAAA	0.418										TSP Lung(27;0.18)			A	141598583	G	A	141598583	3	1	58	1	0	0	0	0	1	0	0	0	8955	1145	40	1	9029	1	LRP1B	2	141598583	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	64805	141598583	101600790	25	43461											
KYNU	8942	broad.mit.edu	37	chr2	143798030	143798031	+	Frame_Shift_Ins	INS	-	-	A													gacaatgaaggcattgcggaINSaaaaatctgttttgctaact							TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:143798029_143798030G>GA	uc010fnm.3	+	13	1290_1291	c.1074_1075G>GA	c.(1072-1077)cggaaafs	p.R358fs	KYNU_uc002tvl.3_Frame_Shift_Ins_p.R358fs	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	358					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	p.R358W(1)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AGGCATTGCGGAAAAAATCTGT	0.347													A	143798031	-	A	143798030	7	5	58	1	0	1	1	0	0	0	0	0	8587	247	9	0	1147	0	KYNU	2	143798030	Frame_Shift_Ins	INS	-	TCGA-BR-7958-01A-21D-2340-08	2199447	143798030	99401343	26	43462											
MARCH7	64844	broad.mit.edu	37	chr2	160602345	160602345	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacttggatcatttggaacAgacttaatgagagagaggag	13	4	1	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:160602345A>C	uc002uax.2	+	4	533	c.411A>C	c.(409-411)ACA>ACC	p.T137T	MARCH7_uc010foq.2_Silent_p.T137T|MARCH7_uc010zcn.1_Intron|MARCH7_uc010for.2_Silent_p.T99T|MARCH7_uc002uay.2_5'Flank	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	axotrophin	137	Ser-rich.						ligase activity|zinc ion binding				0						CATTTGGAACAGACTTAATGA	0.348													C	160602345	A	C	160602345	2	2	58	1	0	0	0	0	0	0	0	1	9306	175	7	5		5	MARCH7	2	160602345	Silent	SNP	A	TCGA-BR-7958-01A-21D-2340-08	16804315	160602345	82597028	27	43463											
SCN3A	6328	broad.mit.edu	37	chr2	166019183	166019183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttggtttcaaaagcagaatCgcttgggggccactgcaaac	12	9	1	1	rs142323631		TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:166019183C>T	uc002ucx.2	-	8	1342	c.850G>A	c.(850-852)GAT>AAT	p.D284N	SCN3A_uc002ucy.2_Missense_Mutation_p.D284N|SCN3A_uc002ucz.2_Missense_Mutation_p.D284N|SCN3A_uc002uda.1_Missense_Mutation_p.D153N|SCN3A_uc002udb.1_Missense_Mutation_p.D153N	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	284						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	AAAGCAGAATCGCTTGGGGGC	0.438													T	166019183	C	T	166019183	3	4	58	1	0	0	0	0	1	0	0	0	13918	884	31	1	5236	1	SCN3A	2	166019183	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	5416838	166019183	77180190	28	43464											
TTN	7273	broad.mit.edu	37	chr2	179433673	179433673	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacaatatactgaatgattTtactgccaccatcatgttca	4	11	2	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:179433673T>G	uc010zfg.1	-	275	69706	c.69482A>C	c.(69481-69483)AAA>ACA	p.K23161T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K16856T|TTN_uc010zfi.1_Missense_Mutation_p.K16789T|TTN_uc010zfj.1_Missense_Mutation_p.K16664T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24088							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAATGATTTTACTGCCACC	0.423													G	179433673	T	G	179433673	3	3	58	1	0	0	0	0	1	0	0	0	16732	1841	64	5	30941	5	TTN	2	179433673	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08	13414490	179433673	63765700	29	43465											
TTN	7273	broad.mit.edu	37	chr2	179437148	179437148	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtcttgtggcagtttgTtgcaacagttgaatatgctt	12	5	1	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:179437148T>G	uc010zfg.1	-	275	66231	c.66007A>C	c.(66007-66009)ACA>CCA	p.T22003P	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T15698P|TTN_uc010zfi.1_Missense_Mutation_p.T15631P|TTN_uc010zfj.1_Missense_Mutation_p.T15506P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22930							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCAGTTTGTTGCAACAGTT	0.438													G	179437148	T	G	179437148	3	3	58	1	0	0	0	0	1	0	0	0	16732	1725	60	5	34416	5	TTN	2	179437148	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08	3475	179437148	63762225	30	43466											
TTN	7273	broad.mit.edu	37	chr2	179457585	179457585	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactgctaacactctaaacTtataggtttgaccgtcccga	7	11	1	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:179457585T>G	uc010zfg.1	-	249	51781	c.51557A>C	c.(51556-51558)AAG>ACG	p.K17186T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K10881T|TTN_uc010zfi.1_Missense_Mutation_p.K10814T|TTN_uc010zfj.1_Missense_Mutation_p.K10689T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18113							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTCTAAACTTATAGGTTTG	0.458													G	179457585	T	G	179457585	3	3	58	1	0	0	0	0	1	0	0	0	16732	1609	56	5	48970	5	TTN	2	179457585	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08	20437	179457585	63741788	31	43467											
MAP2	4133	broad.mit.edu	37	chr2	210560638	210560638	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggagaatatgataaactGctcttccgctcagacaccct	8	12	2	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:210560638G>T	uc002vde.1	+	7	3992	c.3744G>T	c.(3742-3744)CTG>CTT	p.L1248L	MAP2_uc002vdc.1_Silent_p.L1248L|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.L1244L	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1248					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ATGATAAACTGCTCTTCCGCT	0.488													T	210560638	G	T	210560638	2	4	58	1	0	0	0	0	0	0	0	1	9235	1306	46	5		5	MAP2	2	210560638	Silent	SNP	G	TCGA-BR-7958-01A-21D-2340-08	31103053	210560638	32638735	32	43468											
ERBB4	2066	broad.mit.edu	37	chr2	212488720	212488720	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtttctttcaaaatacgaAgttgagcttgattgggtgct	10	6	2	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:212488720A>C	uc002veg.1	-	18	2227	c.2129T>G	c.(2128-2130)CTT>CGT	p.L710R	ERBB4_uc002veh.1_Missense_Mutation_p.L710R|ERBB4_uc010zji.1_Missense_Mutation_p.L700R|ERBB4_uc010zjj.1_Missense_Mutation_p.L700R|ERBB4_uc010fut.1_Missense_Mutation_p.L710R	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	710	Cytoplasmic (Potential).			L->N: Strongly reduced autophosphorylation.	cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAAAATACGAAGTTGAGCTTG	0.413										TSP Lung(8;0.080)			C	212488720	A	C	212488720	3	2	58	1	0	0	0	0	1	0	0	0	5209	72	3	5	1841	5	ERBB4	2	212488720	Missense_Mutation	SNP	A	TCGA-BR-7958-01A-21D-2340-08	1928082	212488720	30710653	33	43469											
ABCB6	10058	broad.mit.edu	37	chr2	220075736	220075736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcattcccagctgtgacaCggccgtaacggatattgtcg	10	12	1	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:220075736C>T	uc002vkc.1	-	15	2340	c.2063G>A	c.(2062-2064)CGT>CAT	p.R688H	ABCB6_uc010fwe.1_Missense_Mutation_p.R642H	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B, member 6	688	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGTGACACGGCCGTAACG	0.547													T	220075736	C	T	220075736	3	4	58	1	0	0	0	0	1	0	0	0	45	536	19	1	485	1	ABCB6	2	220075736	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	7587016	220075736	23123637	34	43470											
ACCN4	55515	broad.mit.edu	37	chr2	220397112	220397112	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctgagcttcagggctacTcggcctacagtgtgtctgcc	12	13	2	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:220397112T>G	uc002vma.2	+	4	1326	c.1312T>G	c.(1312-1314)TCG>GCG	p.S438A	ACCN4_uc010fwi.1_Missense_Mutation_p.S438A|ACCN4_uc010fwj.1_Missense_Mutation_p.S438A|ACCN4_uc002vly.1_3'UTR|ACCN4_uc002vlz.2_Missense_Mutation_p.S438A|ACCN4_uc002vmb.2_Missense_Mutation_p.S92A	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN	amiloride-sensitive cation channel 4 isoform 2	438	Extracellular (Potential).					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity			ovary(2)	2		Renal(207;0.0183)		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)		TCAGGGCTACTCGGCCTACAG	0.657													G	220397112	T	G	220397112	3	3	58	1	0	0	0	0	1	0	0	0	131	1551	54	5	1326	5	ACCN4	2	220397112	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08	321376	220397112	22802261	35	43471											
RPL15	6138	broad.mit.edu	37	chr3	23960861	23960861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacaagcacagggagatgCgtgggctgacatctgcaggc	14	11	1	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr3:23960861C>T	uc003ccn.2	+	4	520	c.484C>T	c.(484-486)CGT>TGT	p.R162C	NKIRAS1_uc003cck.2_Intron|NKIRAS1_uc003ccj.2_5'Flank|NKIRAS1_uc003ccl.2_5'Flank|NKIRAS1_uc003ccm.2_5'Flank|RPL15_uc011awi.1_Silent_p.C121C|RPL15_uc011awj.1_Missense_Mutation_p.A106V|RPL15_uc003cco.2_Intron|RPL15_uc003ccp.2_Missense_Mutation_p.R162C|RPL15_uc003ccq.2_Missense_Mutation_p.R162C|RPL15_uc003ccr.2_Missense_Mutation_p.R162C	NM_002948	NP_002939	P61313	RL15_HUMAN	ribosomal protein L15	162					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			ovary(1)	1						CAGGGAGATGCGTGGGCTGAC	0.527													T	23960861	C	T	23960861	3	4	58	1	0	0	0	0	1	0	0	0	13562	768	27	1	494	1	RPL15	3	23960861	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08		23960861	174061569	36	43472											
DLEC1	9940	broad.mit.edu	37	chr3	38138170	38138170	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaggttctcttagagccatAtgccctcatcatcccagggg	9	14	3	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr3:38138170A>T	uc003cho.1	+	15	2303	c.2282A>T	c.(2281-2283)TAT>TTT	p.Y761F	DLEC1_uc003chp.1_Missense_Mutation_p.Y761F|DLEC1_uc010hgv.1_Missense_Mutation_p.Y761F|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_RNA	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	761					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TTAGAGCCATATGCCCTCATC	0.512													T	38138170	A	T	38138170	3	4	58	1	0	0	0	0	1	0	0	0	4552	449	16	5	2340	5	DLEC1	3	38138170	Missense_Mutation	SNP	A	TCGA-BR-7958-01A-21D-2340-08	14177309	38138170	159884260	37	43473											
KIF9	64147	broad.mit.edu	37	chr3	47282462	47282462	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcactaccttgctcattctTaaactcctcaaaggccactg	4	15	4	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr3:47282462T>C	uc010hjp.2	-	18	2357	c.1753A>G	c.(1753-1755)AAG>GAG	p.K585E	KIF9_uc003cqx.2_Missense_Mutation_p.K585E|KIF9_uc003cqy.2_Missense_Mutation_p.K520E|KIF9_uc011bat.1_RNA|uc003cqw.1_Intron	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN	kinesin family member 9 isoform 2	585					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGCTCATTCTTAAACTCCTCA	0.483													C	47282462	T	C	47282462	3	2	58	1	0	0	0	0	1	0	0	0	8310	1763	61	3	639	3	KIF9	3	47282462	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08	9144292	47282462	150739968	38	43474											
RNF123	63891	broad.mit.edu	37	chr3	49757993	49757993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatccctgcttccagctaCgctcaatatgctatctcctg	6	15	2	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr3:49757993C>T	uc003cxh.2	+	36	3636	c.3550C>T	c.(3550-3552)CGC>TGC	p.R1184C	RNF123_uc003cxi.2_RNA|AMIGO3_uc003cxj.2_5'Flank	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	1184						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTTCCAGCTACGCTCAATATG	0.612													T	49757993	C	T	49757993	3	4	58	1	0	0	0	0	1	0	0	0	13433	536	19	1	3688	1	RNF123	3	49757993	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	2475531	49757993	148264437	39	43475											
IL17RB	55540	broad.mit.edu	37	chr3	53898872	53898872	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgtttccatcacacaatttGttacttcactgaatttcttc	3	10	3	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr3:53898872G>C	uc003dha.2	+	11	1085	c.1046G>C	c.(1045-1047)TGT>TCT	p.C349S		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	interleukin 17B receptor precursor	349	SEFIR.|Cytoplasmic (Potential).				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CACACAATTTGTTACTTCACT	0.413													C	53898872	G	C	53898872	3	2	58	1	0	0	0	0	1	0	0	0	7640	1377	48	5	1088	5	IL17RB	3	53898872	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	4140879	53898872	144123558	40	43476											
BOC	91653	broad.mit.edu	37	chr3	112969655	112969655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgggggctgtggccagCgtgccagccactgtgacact	15	14	0	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr3:112969655C>T	uc003dzx.2	+	4	972	c.351C>T	c.(349-351)AGC>AGT	p.S117S	BOC_uc010hqi.2_Silent_p.S117S|BOC_uc003dzy.2_Silent_p.S117S|BOC_uc003dzz.2_Silent_p.S117S|BOC_uc003dzw.1_Silent_p.S117S|BOC_uc003eaa.1_Silent_p.S117S	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	117	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			CTGTGGCCAGCGTGCCAGCCA	0.632													T	112969655	C	T	112969655	2	4	58	1	0	0	0	0	0	0	0	1	1481	767	27	1		1	BOC	3	112969655	Silent	SNP	C	TCGA-BR-7958-01A-21D-2340-08	59070783	112969655	85052775	41	43477											
ZBTB20	26137	broad.mit.edu	37	chr3	114069258	114069258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggccaggggctgtggcGctggcagctgtgcagtaaag	18	8	0	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr3:114069258G>A	uc003ebi.2	-	4	1847	c.1667C>T	c.(1666-1668)GCG>GTG	p.A556V	ZBTB20_uc003ebj.2_Missense_Mutation_p.A483V|ZBTB20_uc010hqp.2_Missense_Mutation_p.A483V|ZBTB20_uc003ebk.2_Missense_Mutation_p.A483V|ZBTB20_uc003ebl.2_Missense_Mutation_p.A483V|ZBTB20_uc003ebm.2_Missense_Mutation_p.A483V|ZBTB20_uc003ebn.2_Missense_Mutation_p.A483V|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGGCTGTGGCGCTGGCAGCTG	0.607													A	114069258	G	A	114069258	3	1	58	1	0	0	0	0	1	0	0	0	17526	1087	38	1	566	1	ZBTB20	3	114069258	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	1099603	114069258	83953172	42	43478											
ALDH1L1	10840	broad.mit.edu	37	chr3	125850299	125850312	+	Frame_Shift_Del	DEL	CAGCGTGTAGACGG	CAGCGTGTAGACGG	-													cccacgtgggtcttcagggcCagcgtgtagacggcacccgc							TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr3:125850298_125850311CCAGCGTGTAGACGG>C	uc003eim.1	-	12	1729_1742	c.1539_1552CCGTCTACACGCTGG>G	c.(1537-1554)gccgtctacacgctggccfs	p.A513fs	ALDH1L1_uc010hse.1_Intron|ALDH1L1_uc011bki.1_Frame_Shift_Del_p.A412fs|ALDH1L1_uc003eio.3_Frame_Shift_Del_p.A215fs	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	513	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GTCTTCAGGGCCAGCGTGTAGACGGCACCCGCAT	0.64													-	125850312	CAGCGTGTAGACGG	-	125850299	7	5	58	1	0	1	0	1	0	0	0	0	494	581	21	0	1201	0	ALDH1L1	3	125850299	Frame_Shift_Del	DEL	CAGCGTGTAGACGG	TCGA-BR-7958-01A-21D-2340-08	11781041	125850299	72172131	43	43479											
CLRN1	7401	broad.mit.edu	37	chr3	150690403	150690403	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtggctttgatccacaaCggtgtccccaaggctgtcac	10	13	1	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr3:150690403C>T	uc003eyk.1	-	1	384	c.93G>A	c.(91-93)CCG>CCA	p.P31P	CLRN1OS_uc011bny.1_Intron|CLRN1OS_uc003eyl.2_5'Flank	NM_174878	NP_777367	P58418	CLRN1_HUMAN	clarin 1 isoform a	31					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane					0			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGATCCACAACGGTGTCCCCA	0.517													T	150690403	C	T	150690403	2	4	58	1	0	0	0	0	0	0	0	1	3557	523	19	1		1	CLRN1	3	150690403	Silent	SNP	C	TCGA-BR-7958-01A-21D-2340-08	24840104	150690403	47332027	44	43480											
LEPREL1	55214	broad.mit.edu	37	chr3	189675736	189675736	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agggttgatattcagttcatGcttcccttgctgttcttgat	9	8	3	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr3:189675736G>C	uc011bsk.1	-	15	2480	c.2092C>G	c.(2092-2094)CAT>GAT	p.H698D	LEPREL1_uc003fsg.2_Missense_Mutation_p.H517D	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	698					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTCAGTTCATGCTTCCCTTGC	0.308											OREG0015985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	189675736	G	C	189675736	3	2	58	1	0	0	0	0	1	0	0	0	8730	1319	46	5	38	5	LEPREL1	3	189675736	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	38985333	189675736	8346694	45	43481											
GRXCR1	389207	broad.mit.edu	37	chr4	42895566	42895566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaagggttttggtacaAgaagagtcaacattttaagc	12	4	1	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr4:42895566A>G	uc003gwt.2	+	1	283	c.283A>G	c.(283-285)AGA>GGA	p.R95G		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	95					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1						TTTTGGTACAAGAAGAGTCAA	0.438													G	42895566	A	G	42895566	3	3	58	1	0	0	0	0	1	0	0	0	6812	64	3	3	285	3	GRXCR1	4	42895566	Missense_Mutation	SNP	A	TCGA-BR-7958-01A-21D-2340-08		42895566	148258710	46	43482											
IGJ	3512	broad.mit.edu	37	chr4	71522133	71522133	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgggaccacagctgtgtaGcacttgtttctgtcataagt	11	8	2	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr4:71522133G>T	uc003hfn.3	-	4	534	c.393C>A	c.(391-393)TGC>TGA	p.C131*	IGJ_uc010ihz.2_Nonsense_Mutation_p.C147*	NM_144646	NP_653247	P01591	IGJ_HUMAN	immunoglobulin J chain	131					immune response	extracellular region	antigen binding				0			Lung(101;0.235)			CAGCTGTGTAGCACTTGTTTC	0.453													T	71522133	G	T	71522133	4	4	58	1	0	0	0	0	0	1	0	0	7592	963	34	5	90	5	IGJ	4	71522133	Nonsense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	28626567	71522133	119632143	47	43483											
C4orf36	132989	broad.mit.edu	37	chr4	87808972	87808972	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccctcaggagaagctgaaTttccttagatgtattttctt	7	8	2	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr4:87808972T>C	uc003hqe.3	-	4	608	c.295A>G	c.(295-297)ATT>GTT	p.I99V		NM_144645	NP_653246	Q96KX1	CD036_HUMAN	hypothetical protein LOC132989	99											0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		AGAAGCTGAATTTCCTTAGAT	0.393													C	87808972	T	C	87808972	3	2	58	1	0	0	0	0	1	0	0	0	2266	1493	52	3	62	3	C4orf36	4	87808972	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08	16286839	87808972	103345304	48	43484											
BMPR1B	658	broad.mit.edu	37	chr4	96075778	96075778	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgacagccctgcgggttaAgaaaacacttgccaaaatgt	10	10	0	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr4:96075778A>G	uc003htm.3	+	13	1737	c.1463A>G	c.(1462-1464)AAG>AGG	p.K488R	BMPR1B_uc010ilb.2_Missense_Mutation_p.K488R|BMPR1B_uc003htn.3_Missense_Mutation_p.K488R	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	488	Cytoplasmic (Potential).|Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CTGCGGGTTAAGAAAACACTT	0.453													G	96075778	A	G	96075778	3	3	58	1	0	0	0	0	1	0	0	0	1470	72	3	3	1501	3	BMPR1B	4	96075778	Missense_Mutation	SNP	A	TCGA-BR-7958-01A-21D-2340-08	8266806	96075778	95078498	49	43485											
PPP3CA	5530	broad.mit.edu	37	chr4	102004362	102004362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcatcttgggcttcgtGggctcggagtatagataaca	12	10	1	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr4:102004362G>A	uc011cen.1	-	7	1516	c.841C>T	c.(841-843)CAC>TAC	p.H281Y	PPP3CA_uc003hvu.2_Missense_Mutation_p.H281Y|PPP3CA_uc010ilj.2_Missense_Mutation_p.H281Y|PPP3CA_uc003hvt.2_Missense_Mutation_p.H268Y|PPP3CA_uc003hvs.2_Missense_Mutation_p.H214Y|PPP3CA_uc010ilk.2_Intron	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha	281	Catalytic.	Zinc.			protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TGGGCTTCGTGGGCTCGGAGT	0.428													A	102004362	G	A	102004362	3	1	58	1	0	0	0	0	1	0	0	0	12397	1348	47	4	756	4	PPP3CA	4	102004362	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	5928584	102004362	89149914	50	43486											
C4orf31	79625	broad.mit.edu	37	chr4	121957812	121957812	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggaaatgactgcttagtaggCcttgtggtagctagaatttt	12	5	0	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr4:121957812C>G	uc003idq.1	-	4	1841	c.1314G>C	c.(1312-1314)AGG>AGC	p.R438S		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	438											0						GCTTAGTAGGCCTTGTGGTAG	0.453													G	121957812	C	G	121957812	3	3	58	1	0	0	0	0	1	0	0	0	2261	738	26	5	396	5	C4orf31	4	121957812	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	19953450	121957812	69196464	51	43487											
KLHL2	11275	broad.mit.edu	37	chr4	166218834	166218834	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtttatggcccgactgatggAacatgtacggttacctttgc	11	9	0	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr4:166218834A>T	uc003irb.2	+	7	987	c.728A>T	c.(727-729)GAA>GTA	p.E243V	KLHL2_uc011cjm.1_Missense_Mutation_p.E247V|KLHL2_uc003irc.2_Missense_Mutation_p.E155V|KLHL2_uc010ira.2_5'UTR	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	243					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		CGACTGATGGAACATGTACGG	0.423													T	166218834	A	T	166218834	3	4	58	1	0	0	0	0	1	0	0	0	8374	246	9	5	796	5	KLHL2	4	166218834	Missense_Mutation	SNP	A	TCGA-BR-7958-01A-21D-2340-08	44261022	166218834	24935442	52	43488											
CCDC110	256309	broad.mit.edu	37	chr4	186380716	186380716	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatttcactcttagataacTttttacattttctacaaaaa	2	8	3	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr4:186380716T>G	uc003ixu.3	-	6	1101	c.1025A>C	c.(1024-1026)AAG>ACG	p.K342T	CCDC110_uc003ixv.3_Missense_Mutation_p.K305T|CCDC110_uc011ckt.1_Missense_Mutation_p.K342T	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	342						nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CTTAGATAACTTTTTACATTT	0.318													G	186380716	T	G	186380716	3	3	58	1	0	0	0	0	1	0	0	0	2747	1609	56	5	1484	5	CCDC110	4	186380716	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08	20161882	186380716	4773560	53	43489											
GDNF	2668	broad.mit.edu	37	chr5	37816105	37816105	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctctgggttggcagctgcaGcctgccgattccgctctctt	11	14	2	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr5:37816105G>C	uc011cpi.1	-	3	484	c.284C>G	c.(283-285)GCT>GGT	p.A95G	GDNF_uc011cpc.1_Intron|GDNF_uc011cpd.1_Missense_Mutation_p.A43G|GDNF_uc011cpe.1_Missense_Mutation_p.A69G|GDNF_uc011cpf.1_Missense_Mutation_p.A69G|GDNF_uc011cpg.1_Missense_Mutation_p.A112G|GDNF_uc011cph.1_Missense_Mutation_p.A86G	NM_000514	NP_000505	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor isoform 1	95					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity				0	all_lung(31;0.00118)					GGCAGCTGCAGCCTGCCGATT	0.463													C	37816105	G	C	37816105	3	2	58	1	0	0	0	0	1	0	0	0	6322	971	34	5	354	5	GDNF	5	37816105	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08		37816105	143099155	54	43490											
MRPS30	10884	broad.mit.edu	37	chr5	44809568	44809568	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgcgtgcaccgttacgaggaGagcgaggtcatatctttgcc	13	11	2	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr5:44809568G>A	uc003joh.2	+	1	542	c.504G>A	c.(502-504)GAG>GAA	p.E168E	MRPS30_uc003joi.1_5'Flank	NM_016640	NP_057724	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	168					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome				0	Lung NSC(6;8.08e-07)					GTTACGAGGAGAGCGAGGTCA	0.687													A	44809568	G	A	44809568	2	1	58	1	0	0	0	0	0	0	0	1	9840	933	33	4		4	MRPS30	5	44809568	Silent	SNP	G	TCGA-BR-7958-01A-21D-2340-08	6993463	44809568	136105692	55	43491											
RASA1	5921	broad.mit.edu	37	chr5	86645051	86645051	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttggtcaagtctgcagttttCttgtgaggccctcagataat	10	8	4	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr5:86645051C>G	uc003kiw.2	+	8	1241	c.1123C>G	c.(1123-1125)CTT>GTT	p.L375V	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.L198V|RASA1_uc011ctv.1_Missense_Mutation_p.L208V|RASA1_uc011ctw.1_Missense_Mutation_p.L209V|RASA1_uc010jaw.2_Missense_Mutation_p.L197V	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	375	SH2 2.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CTGCAGTTTTCTTGTGAGGCC	0.333													G	86645051	C	G	86645051	3	3	58	1	0	0	0	0	1	0	0	0	13060	913	32	5	1165	5	RASA1	5	86645051	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	41835483	86645051	94270209	56	43492											
FAM81B	153643	broad.mit.edu	37	chr5	94728571	94728571	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgaacctgatggccccctTcctggctcagacaataacca	8	14	1	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr5:94728571T>G	uc003kla.1	+	2	244	c.198T>G	c.(196-198)CTT>CTG	p.L66L	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	hypothetical protein LOC153643	66										ovary(1)|skin(1)	2		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		ATGGCCCCCTTCCTGGCTCAG	0.403													G	94728571	T	G	94728571	2	3	58	1	0	0	0	0	0	0	0	1	5629	1770	62	5		5	FAM81B	5	94728571	Silent	SNP	T	TCGA-BR-7958-01A-21D-2340-08	8083520	94728571	86186689	57	43493											
PCDHB13	56123	broad.mit.edu	37	chr5	140594608	140594608	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacaggagaaattgaactaAaaaaacaactcgatttcgaa	7	6	0	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr5:140594608A>C	uc003lja.1	+	1	1100	c.913A>C	c.(913-915)AAA>CAA	p.K305Q		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	305	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATTGAACTAAAAAAACAACT	0.388													C	140594608	A	C	140594608	3	2	58	1	0	0	0	0	1	0	0	0	11538	15	1	5	915	5	PCDHB13	5	140594608	Missense_Mutation	SNP	A	TCGA-BR-7958-01A-21D-2340-08	45866037	140594608	40320652	58	43494											
WWC1	23286	broad.mit.edu	37	chr5	167835508	167835512	+	Splice_Site	DEL	TCAGA	TCAGA	-													taaccctgctctcccctcctTcagagccttgccatgttgaa							TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr5:167835507_167835511TTCAGA>T	uc003lzu.3	+	7	814	c.721_splice	c.e7-1	p.S241_splice	WWC1_uc003lzv.3_Splice_Site_p.S241_splice|WWC1_uc011den.2_Splice_Site_p.S241_splice|WWC1_uc003lzw.3_Splice_Site_p.S40_splice	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	241					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TCTCCCCTCCTTCAGAGCCTTGCCA	0.59													-	167835512	TCAGA	-	167835508	8	5	58	1	0	1	0	1	0	0	1	0	17408	1798	62	0		0	WWC1	5	167835508	Splice_Site	DEL	TCAGA	TCGA-BR-7958-01A-21D-2340-08	27240900	167835508	13079752	59	43495											
TBC1D9B	23061	broad.mit.edu	37	chr5	179290573	179290573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagttcaccagcacggactCcgtcaggatggaggccagga	14	11	2	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr5:179290573C>T	uc003mlh.2	-	22	3665	c.3628G>A	c.(3628-3630)GAG>AAG	p.E1210K	TBC1D9B_uc003mli.2_Missense_Mutation_p.E1193K|TBC1D9B_uc003mlj.2_Missense_Mutation_p.E1192K|TBC1D9B_uc003mlf.2_Missense_Mutation_p.E284K|TBC1D9B_uc003mlg.2_Missense_Mutation_p.E369K|TBC1D9B_uc011dgv.1_Missense_Mutation_p.E369K	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1210						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCACGGACTCCGTCAGGATG	0.592													T	179290573	C	T	179290573	3	4	58	1	0	0	0	0	1	0	0	0	15625	864	30	4	128	4	TBC1D9B	5	179290573	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	11455065	179290573	1624687	60	43496											
RASGEF1C	255426	broad.mit.edu	37	chr5	179548126	179548126	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcacataagcctccaggttGctggtcttgtcactgaagca	9	11	3	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr5:179548126G>C	uc003mlq.2	-	6	1035	c.738C>G	c.(736-738)AGC>AGG	p.S246R	RASGEF1C_uc003mlr.2_Missense_Mutation_p.S246R|RASGEF1C_uc003mlp.3_Missense_Mutation_p.S95R	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	246	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCCAGGTTGCTGGTCTTGT	0.507													C	179548126	G	C	179548126	3	2	58	1	0	0	0	0	1	0	0	0	13071	1310	46	5	694	5	RASGEF1C	5	179548126	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	257553	179548126	1367134	61	43497											
GCM2	9247	broad.mit.edu	37	chr6	10874576	10874576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggggctggtaggcctgGtaggacactttagtggtggt	19	6	0	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr6:10874576G>A	uc003mzn.3	-	5	1245	c.1173C>T	c.(1171-1173)TAC>TAT	p.Y391Y	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	glial cells missing homolog 2	391					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GGTAGGCCTGGTAGGACACTT	0.532													A	10874576	G	A	10874576	2	1	58	1	0	0	0	0	0	0	0	1	6298	1256	44	4		4	GCM2	6	10874576	Silent	SNP	G	TCGA-BR-7958-01A-21D-2340-08		10874576	160240491	62	43498											
C6orf26	401251	broad.mit.edu	37	chr6	31731858	31731858	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagaattttctaacagatttAcactcagagcctggtcgccc	7	11	2	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr6:31731858A>C	uc003nxa.3	+	3	332	c.273A>C	c.(271-273)TTA>TTC	p.L91F	MSH5_uc003nwz.3_RNA	NM_001039651	NP_001034740	Q5SSQ6	G7D_HUMAN	hypothetical protein LOC401251	91											0						TAACAGATTTACACTCAGAGC	0.463													C	31731858	A	C	31731858	3	2	58	1	0	0	0	0	1	0	0	0	2361	388	14	5	283	5	C6orf26	6	31731858	Missense_Mutation	SNP	A	TCGA-BR-7958-01A-21D-2340-08	20857282	31731858	139383209	63	43499											
LRFN2	57497	broad.mit.edu	37	chr6	40360102	40360102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaggcggtcaaggctgggCttggggcgcggggcggaggg	23	8	2	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr6:40360102C>T	uc003oph.1	-	3	2415	c.1950G>A	c.(1948-1950)AAG>AAA	p.K650K		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	650	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAAGGCTGGGCTTGGGGCGCG	0.706													T	40360102	C	T	40360102	2	4	58	1	0	0	0	0	0	0	0	1	8938	796	28	2		2	LRFN2	6	40360102	Silent	SNP	C	TCGA-BR-7958-01A-21D-2340-08	8628244	40360102	130754965	64	43500											
PKHD1	5314	broad.mit.edu	37	chr6	51609229	51609229	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcctctgttttaggaaaTacagaaactggtggaggcag	12	7	2	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr6:51609229T>C	uc003pah.1	-	60	10386	c.10110A>G	c.(10108-10110)GTA>GTG	p.V3370V	PKHD1_uc010jzn.1_Silent_p.V1353V|PKHD1_uc003pai.2_Silent_p.V3370V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3370	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TTTTAGGAAATACAGAAACTG	0.468													C	51609229	T	C	51609229	2	2	58	1	0	0	0	0	0	0	0	1	11971	1393	49	3		3	PKHD1	6	51609229	Silent	SNP	T	TCGA-BR-7958-01A-21D-2340-08	11249127	51609229	119505838	65	43501											
TTK	7272	broad.mit.edu	37	chr6	80750377	80750377	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaatatgttctgggccaacTtgttggtctgaattctccta	9	8	3	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr6:80750377T>G	uc003pjc.2	+	21	2521	c.2447T>G	c.(2446-2448)CTT>CGT	p.L816R	TTK_uc003pjb.3_Missense_Mutation_p.L815R	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	816					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CTGGGCCAACTTGTTGGTCTG	0.308													G	80750377	T	G	80750377	3	3	58	1	0	0	0	0	1	0	0	0	16717	1609	56	5	2525	5	TTK	6	80750377	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08	29141148	80750377	90364690	66	43502											
GRIK2	2898	broad.mit.edu	37	chr6	102372513	102372513	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtataatccacacccttgcAaccctgactcagacgtggtg	9	13	1	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr6:102372513A>C	uc003pqp.3	+	12	2035	c.1786A>C	c.(1786-1788)AAC>CAC	p.N596H	GRIK2_uc003pqo.3_Missense_Mutation_p.N596H|GRIK2_uc010kcw.2_Missense_Mutation_p.N596H	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	596	Cytoplasmic (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ACACCCTTGCAACCCTGACTC	0.408													C	102372513	A	C	102372513	3	2	58	1	0	0	0	0	1	0	0	0	6774	130	5	5	1832	5	GRIK2	6	102372513	Missense_Mutation	SNP	A	TCGA-BR-7958-01A-21D-2340-08	21622136	102372513	68742554	67	43503											
GPRC6A	222545	broad.mit.edu	37	chr6	117127751	117127751	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgattgaatatgcattgacTcaaatcagtgtccttgacat	7	7	2	4			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr6:117127751T>A	uc003pxj.1	-	3	1139	c.1117A>T	c.(1117-1119)AGT>TGT	p.S373C	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.S373C	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	373	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATGCATTGACTCAAATCAGTG	0.413													A	117127751	T	A	117127751	3	1	58	1	0	0	0	0	1	0	0	0	6728	1551	54	5	1679	5	GPRC6A	6	117127751	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08	14755238	117127751	53987316	68	43504											
NMBR	4829	broad.mit.edu	37	chr6	142409567	142409567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagatgaagatgttggggaCgctcctcatggcgctgttgg	16	7	1	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr6:142409567C>T	uc003qiu.2	-	1	370	c.229G>A	c.(229-231)GTC>ATC	p.V77I		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	77	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		ATGTTGGGGACGCTCCTCATG	0.592													T	142409567	C	T	142409567	3	4	58	1	0	0	0	0	1	0	0	0	10487	536	19	1	955	1	NMBR	6	142409567	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	25281816	142409567	28705500	69	43505											
UTRN	7402	broad.mit.edu	37	chr6	145114972	145114972	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcttgcctctctttgcagatCtctttaaggaagttgcaggg	10	9	3	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr6:145114972C>T	uc003qkt.2	+	62	9015	c.8923C>T	c.(8923-8925)CTC>TTC	p.L2975F		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2975	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTTTGCAGATCTCTTTAAGGA	0.438													T	145114972	C	T	145114972	3	4	58	1	0	0	0	0	1	0	0	0	17100	913	32	4	9169	4	UTRN	6	145114972	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	2705405	145114972	26000095	70	43506											
ULBP1	80329	broad.mit.edu	37	chr6	150290350	150290350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacaacagaaagtggacagCacttcatcctggagccaaga	9	10	1	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr6:150290350C>T	uc003qnp.2	+	3	522	c.479C>T	c.(478-480)GCA>GTA	p.A160V		NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1 precursor	160	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity			pancreas(1)	1		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		AAGTGGACAGCACTTCATCCT	0.483													T	150290350	C	T	150290350	3	4	58	1	0	0	0	0	1	0	0	0	16969	710	25	2	489	2	ULBP1	6	150290350	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	5175378	150290350	20824717	71	43507											
FNDC1	84624	broad.mit.edu	37	chr6	159692384	159692384	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatcgccagtatcgtcaggaGcctgtcaggtttgggaacat	12	9	2	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr6:159692384G>T	uc010kjv.2	+	23	5795	c.5595G>T	c.(5593-5595)GAG>GAT	p.E1865D		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1865						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ATCGTCAGGAGCCTGTCAGGT	0.557													T	159692384	G	T	159692384	3	4	58	1	0	0	0	0	1	0	0	0	5968	962	34	5	5685	5	FNDC1	6	159692384	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	9402034	159692384	11422683	72	43508											
ITGB8	3696	broad.mit.edu	37	chr7	20438596	20438596	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcatggaaggatgcagAaacgtgacgagcaatgatga	14	7	0	4			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr7:20438596A>G	uc003suu.2	+	9	1965	c.1260A>G	c.(1258-1260)AGA>AGG	p.R420R	ITGB8_uc011jyh.1_Silent_p.R285R|ITGB8_uc003sut.2_Silent_p.R420R	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	420	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						AAGGATGCAGAAACGTGACGA	0.413													G	20438596	A	G	20438596	2	3	58	1	0	0	0	0	0	0	0	1	7901	243	9	3		3	ITGB8	7	20438596	Silent	SNP	A	TCGA-BR-7958-01A-21D-2340-08		20438596	138700067	73	43509											
ELMO1	9844	broad.mit.edu	37	chr7	37172752	37172752	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacccggatgtaggcatcttGgtggtgcttggcaaagtaca	13	8	1	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr7:37172752G>T	uc003tfk.1	-	14	1481	c.1174C>A	c.(1174-1176)CAA>AAA	p.Q392K	ELMO1_uc011kbc.1_Missense_Mutation_p.Q296K|ELMO1_uc010kxg.1_Missense_Mutation_p.Q392K	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	392	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						TAGGCATCTTGGTGGTGCTTG	0.458													T	37172752	G	T	37172752	3	4	58	1	0	0	0	0	1	0	0	0	5065	1357	47	5	1045	5	ELMO1	7	37172752	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	16734156	37172752	121965911	74	43510											
RSBN1L	222194	broad.mit.edu	37	chr7	77326150	77326150	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagcctccgcttccttgtctCagccggtgccgcgcaaactg	10	17	1	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr7:77326150C>T	uc010ldt.1	+	1	408	c.364C>T	c.(364-366)CAG>TAG	p.Q122*	RSBN1L_uc003ugm.2_5'Flank|uc003ugj.1_RNA	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	122						nucleus				ovary(1)	1						TTCCTTGTCTCAGCCGGTGCC	0.677													T	77326150	C	T	77326150	4	4	58	1	0	0	0	0	0	1	0	0	13697	827	29	4	366	4	RSBN1L	7	77326150	Nonsense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	40153398	77326150	81812513	75	43511											
SLC25A13	10165	broad.mit.edu	37	chr7	95813719	95813719	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attcgagtttttacaagatcGataggatacacagcagtggc	10	7	0	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr7:95813719G>A	uc003uof.3	-	11	1238	c.1047C>T	c.(1045-1047)ATC>ATT	p.I349I	SLC25A13_uc003uog.3_Silent_p.I350I|SLC25A13_uc011kik.1_Silent_p.I241I	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	349	Solcar 1.|Helical; Name=1; (Potential).				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TTACAAGATCGATAGGATACA	0.363													A	95813719	G	A	95813719	2	1	58	1	0	0	0	0	0	0	0	1	14475	1048	37	1		1	SLC25A13	7	95813719	Silent	SNP	G	TCGA-BR-7958-01A-21D-2340-08	18487569	95813719	63324944	76	43512											
MET	4233	broad.mit.edu	37	chr7	116339156	116339156	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataatgaaggcccccgctgtGcttgcacctggcatcctcgt	10	14	0	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr7:116339156G>T	uc003vij.2	+	2	205	c.18G>T	c.(16-18)GTG>GTT	p.V6V	MET_uc010lkh.2_Silent_p.V6V|MET_uc011knc.1_Silent_p.V6V|MET_uc011knd.1_Silent_p.V6V|MET_uc011kne.1_Silent_p.V6V|MET_uc011knf.1_Silent_p.V6V|MET_uc011kng.1_Silent_p.V6V|MET_uc011knh.1_Silent_p.V6V|MET_uc011kni.1_Silent_p.V6V|MET_uc003vii.1_Silent_p.V25V|MET_uc010lkg.2_Silent_p.V6V|MET_uc011kmz.1_Silent_p.V6V|MET_uc011kna.1_Silent_p.V6V|MET_uc011knb.1_Silent_p.V6V	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	6					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCCCCGCTGTGCTTGCACCTG	0.473			Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				T	116339156	G	T	116339156	2	4	58	1	0	0	0	0	0	0	0	1	9485	1306	46	5		5	MET	7	116339156	Silent	SNP	G	TCGA-BR-7958-01A-21D-2340-08	20525437	116339156	42799507	77	43513											
TMEM209	84928	broad.mit.edu	37	chr7	129841736	129841736	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggtcactccagggctataaGaaccactgccacctgaggac	10	13	1	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr7:129841736G>A	uc003vpn.2	-	5	650	c.527C>T	c.(526-528)TCT>TTT	p.S176F	TMEM209_uc010lmc.1_Missense_Mutation_p.S176F|TMEM209_uc003vpo.2_Missense_Mutation_p.S176F	NM_032842	NP_116231	Q96SK2	TM209_HUMAN	transmembrane protein 209	176	Ser-rich.					integral to membrane				ovary(2)|large_intestine(1)	3	Melanoma(18;0.0435)					AGGGCTATAAGAACCACTGCC	0.488													A	129841736	G	A	129841736	3	1	58	1	0	0	0	0	1	0	0	0	16131	942	33	4	1202	4	TMEM209	7	129841736	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	13502580	129841736	29296927	78	43514											
PLXNA4	91584	broad.mit.edu	37	chr7	132192789	132192789	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttaatcatcgaggccacgaActcatcatggaagacgtacg	9	11	3	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr7:132192789A>C	uc003vra.3	-	2	893	c.664T>G	c.(664-666)TTC>GTC	p.F222V	PLXNA4_uc003vrc.2_Missense_Mutation_p.F222V|PLXNA4_uc003vrb.2_Missense_Mutation_p.F222V	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	222	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GAGGCCACGAACTCATCATGG	0.488													C	132192789	A	C	132192789	3	2	58	1	0	0	0	0	1	0	0	0	12122	43	2	5	5458	5	PLXNA4	7	132192789	Missense_Mutation	SNP	A	TCGA-BR-7958-01A-21D-2340-08	2351053	132192789	26945874	79	43515											
NOBOX	135935	broad.mit.edu	37	chr7	144098486	144098486	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagttctgtctttgtggggaGccctggagcgggggggcggg	22	7	2	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr7:144098486G>T	uc011kue.1	-	4	497	c.497C>A	c.(496-498)GCT>GAT	p.A166D		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	166					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			ovary(1)	1	Melanoma(164;0.14)					TTTGTGGGGAGCCCTGGAGCG	0.622													T	144098486	G	T	144098486	3	4	58	1	0	0	0	0	1	0	0	0	10512	971	34	5	1510	5	NOBOX	7	144098486	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	11905697	144098486	15040177	80	43516											
CSMD1	64478	broad.mit.edu	37	chr8	2807833	2807833	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttaatttgaaaagctttcaGgagtaagtgggcctcctcct	9	8	1	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr8:2807833G>T	uc011kwk.1	-	67	10627	c.10237C>A	c.(10237-10239)CTG>ATG	p.L3413M	CSMD1_uc011kwj.1_Missense_Mutation_p.L2727M|CSMD1_uc010lrg.2_Missense_Mutation_p.L1304M	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3413	Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAAGCTTTCAGGAGTAAGTGG	0.398													T	2807833	G	T	2807833	3	4	58	1	0	0	0	0	1	0	0	0	3944	991	35	5	476	5	CSMD1	8	2807833	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08		2807833	143556189	81	43517											
NEFL	4747	broad.mit.edu	37	chr8	24813352	24813352	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcggcgatctcctcttcgtgCactttcttcagaaaagagat	8	11	4	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr8:24813352C>G	uc003xee.2	-	1	780	c.678G>C	c.(676-678)GTG>GTC	p.V226V		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	226	Rod.|Coil 1B.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CCTCTTCGTGCACTTTCTTCA	0.617													G	24813352	C	G	24813352	2	3	58	1	0	0	0	0	0	0	0	1	10315	697	25	5		5	NEFL	8	24813352	Silent	SNP	C	TCGA-BR-7958-01A-21D-2340-08	22005519	24813352	121550670	82	43518											
BRF2	55290	broad.mit.edu	37	chr8	37704431	37704431	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gatggcacatccagtcccagGagcttcactatctgcatgta	9	12	2	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr8:37704431G>T	uc003xkk.2	-	3	587	c.477C>A	c.(475-477)CTC>CTA	p.L159L		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	RNA polymerase III transcription initiation	159					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding				0		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CCAGTCCCAGGAGCTTCACTA	0.532													T	37704431	G	T	37704431	2	4	58	1	0	0	0	0	0	0	0	1	1511	1161	41	5		5	BRF2	8	37704431	Silent	SNP	G	TCGA-BR-7958-01A-21D-2340-08	12891079	37704431	108659591	83	43519											
SLCO5A1	81796	broad.mit.edu	37	chr8	70674086	70674086	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatatcccactgcagggccaAgtgctcccatgacatacatg	8	13	0	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr8:70674086A>C	uc003xyl.2	-	3	1639	c.932T>G	c.(931-933)CTT>CGT	p.L311R	SLCO5A1_uc010lzb.2_Missense_Mutation_p.L311R|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Missense_Mutation_p.L311R|SLCO5A1_uc010lzc.2_Missense_Mutation_p.L311R	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	311	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGCAGGGCCAAGTGCTCCCAT	0.418													C	70674086	A	C	70674086	3	2	58	1	0	0	0	0	1	0	0	0	14731	72	3	5	1646	5	SLCO5A1	8	70674086	Missense_Mutation	SNP	A	TCGA-BR-7958-01A-21D-2340-08	32969655	70674086	75689936	84	43520											
MMP16	4325	broad.mit.edu	37	chr8	89058908	89058908	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgcataccattttctttgTgtacaaatgctccctgagga	8	9	1	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr8:89058908T>G	uc003yeb.3	-	9	1760	c.1478A>C	c.(1477-1479)CAC>CCC	p.H493P		NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	493	Hemopexin-like 4.|Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						ATTTTCTTTGTGTACAAATGC	0.393													G	89058908	T	G	89058908	3	3	58	1	0	0	0	0	1	0	0	0	9655	1696	59	5	353	5	MMP16	8	89058908	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08	18384822	89058908	57305114	85	43521											
DCAF13	25879	broad.mit.edu	37	chr8	104427493	104427493	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agctaaagaaccgccccttgCtaacgtttgccggcaaaact	8	13	0	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr8:104427493C>G	uc003yln.2	+	1	552	c.275C>G	c.(274-276)GCT>GGT	p.A92G	SLC25A32_uc003yll.2_5'Flank|SLC25A32_uc011lhr.1_5'Flank|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	Error:Variant_position_missing_in_Q9NV06_after_alignment					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						CCGCCCCTTGCTAACGTTTGC	0.642													G	104427493	C	G	104427493	3	3	58	1	0	0	0	0	1	0	0	0	4266	797	28	5	277	5	DCAF13	8	104427493	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	15368585	104427493	41936529	86	43522											
CSMD3	114788	broad.mit.edu	37	chr8	113650972	113650972	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgatattgaaaaatctgaaAtgaaacgcaattgagccctg	8	6	1	5			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr8:113650972A>C	uc003ynu.2	-	21	3638	c.3479T>G	c.(3478-3480)ATT>AGT	p.I1160S	CSMD3_uc003yns.2_Missense_Mutation_p.I432S|CSMD3_uc003ynt.2_Missense_Mutation_p.I1120S|CSMD3_uc011lhx.1_Missense_Mutation_p.I1056S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1160	Extracellular (Potential).|CUB 6.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AAAATCTGAAATGAAACGCAA	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113650972	A	C	113650972	3	2	58	1	0	0	0	0	1	0	0	0	3946	101	4	5	7848	5	CSMD3	8	113650972	Missense_Mutation	SNP	A	TCGA-BR-7958-01A-21D-2340-08	9223479	113650972	32713050	87	43523											
COL14A1	7373	broad.mit.edu	37	chr8	121216104	121216104	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaacaggacagagaaaTtaaaggtaaaatgagtgaca	12	3	0	4			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr8:121216104T>G	uc003yox.2	+	9	1299	c.1034T>G	c.(1033-1035)ATT>AGT	p.I345S	COL14A1_uc003yoy.2_Missense_Mutation_p.I23S|COL14A1_uc010mde.1_Missense_Mutation_p.I23S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	345					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GACAGAGAAATTAAAGGTAAA	0.423													G	121216104	T	G	121216104	3	3	58	1	0	0	0	0	1	0	0	0	3671	1493	52	5	1064	5	COL14A1	8	121216104	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08	7565132	121216104	25147918	88	43524											
KLHL38	340359	broad.mit.edu	37	chr8	124664818	124664818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcctcaaacagcttggGgaactgtagcatggaggcgg	16	9	1	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr8:124664818G>A	uc003yqs.1	-	1	373	c.349C>T	c.(349-351)CCC>TCC	p.P117S		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	kelch-like 38	117											0						AACAGCTTGGGGAACTGTAGC	0.562													A	124664818	G	A	124664818	3	1	58	1	0	0	0	0	1	0	0	0	8390	1232	43	4	1408	4	KLHL38	8	124664818	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	3448714	124664818	21699204	89	43525											
MFSD3	113655	broad.mit.edu	37	chr8	145736098	145736098	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agcatggacgctggcacaatCttgagaggtgaggggctggc	17	8	1	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr8:145736098C>G	uc003zdi.1	+	3	1113	c.948C>G	c.(946-948)ATC>ATG	p.I316M		NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing	316	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGGCACAATCTTGAGAGGTG	0.652													G	145736098	C	G	145736098	3	3	58	1	0	0	0	0	1	0	0	0	9532	903	32	5	958	5	MFSD3	8	145736098	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	21071280	145736098	627924	90	43526											
TMEFF1	8577	broad.mit.edu	37	chr9	103278979	103278979	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagggtcaggggcagaAgttcacagaaaacactccaa	13	8	2	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr9:103278979A>G	uc004baz.1	+	5	596	c.486A>G	c.(484-486)GAA>GAG	p.E162E	TMEFF1_uc004bay.1_Silent_p.E236E	NM_003692	NP_003683	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two	162	Extracellular (Potential).				multicellular organismal development	integral to membrane|plasma membrane					0		Acute lymphoblastic leukemia(62;0.0452)				CAGGGGCAGAAGTTCACAGAA	0.413													G	103278979	A	G	103278979	2	3	58	1	0	0	0	0	0	0	0	1	16010	69	3	3		3	TMEFF1	9	103278979	Silent	SNP	A	TCGA-BR-7958-01A-21D-2340-08		103278979	37934452	91	43527											
ADAMTS13	11093	broad.mit.edu	37	chr9	136319694	136319694	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgaggccagtgtcccctgtCtcattgccgactgcacctac	9	17	1	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr9:136319694C>T	uc004cdv.3	+	24	3646	c.3202C>T	c.(3202-3204)CTC>TTC	p.L1068F	ADAMTS13_uc004cdp.3_Missense_Mutation_p.L295F|ADAMTS13_uc004cdt.1_Missense_Mutation_p.L1068F|ADAMTS13_uc004cdu.1_Missense_Mutation_p.L1037F|ADAMTS13_uc004cdw.3_Missense_Mutation_p.L1068F|ADAMTS13_uc004cdx.3_Missense_Mutation_p.L1037F|ADAMTS13_uc004cdz.3_Missense_Mutation_p.L738F|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.3_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1068	TSP type-1 7.				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)		TGTCCCCTGTCTCATTGCCGA	0.677													T	136319694	C	T	136319694	3	4	58	1	0	0	0	0	1	0	0	0	258	913	32	4	3296	4	ADAMTS13	9	136319694	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	33040715	136319694	4893737	92	43528											
KCNT1	57582	broad.mit.edu	37	chr9	138671281	138671281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatgcagttccgcgccaagGacagctactctctggctctt	9	14	3	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr9:138671281G>A	uc011mdq.1	+	24	2880	c.2806G>A	c.(2806-2808)GAC>AAC	p.D936N	KCNT1_uc011mdr.1_Missense_Mutation_p.D763N|KCNT1_uc010nbf.2_Missense_Mutation_p.D891N|KCNT1_uc004cgo.1_Missense_Mutation_p.D685N	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	936						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCGCGCCAAGGACAGCTACTC	0.617													A	138671281	G	A	138671281	3	1	58	1	0	0	0	0	1	0	0	0	8091	1174	41	4	2900	4	KCNT1	9	138671281	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	2351587	138671281	2542150	93	43529											
GATA3	2625	broad.mit.edu	37	chr10	8115837	8115837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagctcgtttaacccggccGccctctccagacacatgtcc	7	18	1	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr10:8115837G>A	uc001ika.2	+	6	1740	c.1183G>A	c.(1183-1185)GCC>ACC	p.A395T	GATA3_uc001ijz.2_Missense_Mutation_p.A396T	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	395					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.A395fs*54(1)		breast(17)|ovary(3)|central_nervous_system(2)	22						TAACCCGGCCGCCCTCTCCAG	0.562			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						A	8115837	G	A	8115837	3	1	58	1	0	0	0	0	1	0	0	0	6255	1087	38	1	1204	1	GATA3	10	8115837	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08		8115837	127418910	94	43530											
MCM10	55388	broad.mit.edu	37	chr10	13225083	13225102	+	Splice_Site	DEL	AAGGATGGTTCAGAGGAGGT	AAGGATGGTTCAGAGGAGGT	-													atgccaaccccatgaagcccAaggatggttcagaggaggta							TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr10:13225082_13225101CAAGGATGGTTCAGAGGAGGT>C	uc001ima.3	+	8	1229	c.1101_splice	c.e8+1	p.E367_splice	MCM10_uc001imb.3_Splice_Site_p.E366_splice|MCM10_uc001imc.3_Splice_Site_p.E366_splice	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	367					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CCATGAAGCCCAAGGATGGTTCAGAGGAGGTAAGAGCCTG	0.455													-	13225102	AAGGATGGTTCAGAGGAGGT	-	13225083	8	5	58	1	0	1	0	1	0	0	1	0	9385	131	5	0	1110	0	MCM10	10	13225083	Splice_Site	DEL	AAGGATGGTTCAGAGGAGGT	TCGA-BR-7958-01A-21D-2340-08	5109246	13225083	122309664	95	43531											
THNSL1	79896	broad.mit.edu	37	chr10	25313384	25313384	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgcattttttcctgagaatgGagtaagtgattttcaaaaag	9	4	1	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr10:25313384G>C	uc001isi.3	+	3	1561	c.1232G>C	c.(1231-1233)GGA>GCA	p.G411A	ENKUR_uc001ish.1_Intron	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1	411					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			pancreas(1)	1					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	CCTGAGAATGGAGTAAGTGAT	0.388													C	25313384	G	C	25313384	3	2	58	1	0	0	0	0	1	0	0	0	15859	1174	41	5	1234	5	THNSL1	10	25313384	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	12088301	25313384	110221363	96	43532											
OR13A1	79290	broad.mit.edu	37	chr10	45799788	45799788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccctgcaggatgaactcgGttaccaacgtctggttactc	10	12	1	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr10:45799788G>A	uc001jcc.1	-	4	392	c.83C>T	c.(82-84)ACC>ATC	p.T28I	OR13A1_uc001jcd.1_Missense_Mutation_p.T24I	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A,	28	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GATGAACTCGGTTACCAACGT	0.517													A	45799788	G	A	45799788	3	1	58	1	0	0	0	0	1	0	0	0	10933	1261	44	4	907	4	OR13A1	10	45799788	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	20486404	45799788	89734959	97	43533											
ZWINT	11130	broad.mit.edu	37	chr10	58119894	58119894	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagagcagcttgtctttcttCtgagagtcctgctcagaggg	12	10	4	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr10:58119894C>G	uc001jjx.1	-	3	178	c.141G>C	c.(139-141)CAG>CAC	p.Q47H	ZWINT_uc001jjy.1_Missense_Mutation_p.Q47H|ZWINT_uc001jka.1_Missense_Mutation_p.Q47H|ZWINT_uc009xoy.1_Intron	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	47					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						TGTCTTTCTTCTGAGAGTCCT	0.547													G	58119894	C	G	58119894	3	3	58	1	0	0	0	0	1	0	0	0	18246	912	32	5	716	5	ZWINT	10	58119894	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	12320106	58119894	77414853	98	43534											
HERC4	26091	broad.mit.edu	37	chr10	69682805	69682805	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaacaagtatgggaaactggGagatactcctcaccacctcc	8	12	1	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr10:69682805G>A	uc001jng.3	-	26	3368	c.3057C>T	c.(3055-3057)CTC>CTT	p.L1019L	HERC4_uc009xpq.2_Silent_p.L551L|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Silent_p.L1011L|HERC4_uc009xpr.2_Silent_p.L941L|HERC4_uc001jni.3_Silent_p.L755L	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	1019	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						GGGAAACTGGGAGATACTCCT	0.398													A	69682805	G	A	69682805	2	1	58	1	0	0	0	0	0	0	0	1	7060	1161	41	4		4	HERC4	10	69682805	Silent	SNP	G	TCGA-BR-7958-01A-21D-2340-08	11562911	69682805	65851942	99	43535											
CDH23	64072	broad.mit.edu	37	chr10	73559288	73559288	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgtgggcacaatcatcCtgacagtcactgccactgat	9	13	2	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr10:73559288C>G	uc001jrx.3	+	50	7641	c.7264C>G	c.(7264-7266)CTG>GTG	p.L2422V	CDH23_uc001jsg.3_Missense_Mutation_p.L182V|CDH23_uc001jsh.3_Missense_Mutation_p.L182V|CDH23_uc001jsi.3_Missense_Mutation_p.L182V	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	2422	Cadherin 23.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CACAATCATCCTGACAGTCAC	0.572													G	73559288	C	G	73559288	3	3	58	1	0	0	0	0	1	0	0	0	3108	680	24	5	7811	5	CDH23	10	73559288	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	3876483	73559288	61975459	100	43536											
C10orf28	27291	broad.mit.edu	37	chr10	99969588	99969588	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acacagagggaattactgccAttgaggagagctgggagtct	14	7	1	3	rs141538234	byFrequency	TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr10:99969588A>T	uc001kow.3	+	4	2012	c.1717A>T	c.(1717-1719)ATT>TTT	p.I573F	C10orf28_uc001kox.3_Missense_Mutation_p.I573F|C10orf28_uc001koy.3_Missense_Mutation_p.I573F|C10orf28_uc009xvx.2_Missense_Mutation_p.I573F|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	573							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		AATTACTGCCATTGAGGAGAG	0.408													T	99969588	A	T	99969588	3	4	58	1	0	0	0	0	1	0	0	0	1601	217	8	5	1719	5	C10orf28	10	99969588	Missense_Mutation	SNP	A	TCGA-BR-7958-01A-21D-2340-08	26410300	99969588	35565159	101	43537											
TOLLIP	54472	broad.mit.edu	37	chr11	1311591	1311591	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtagcccaggcgcagtcGgcagtaggggtccatgcggg	18	12	0	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr11:1311591G>A	uc001lte.2	-	3	343	c.232C>T	c.(232-234)CGA>TGA	p.R78*	TOLLIP_uc001ltd.2_Nonsense_Mutation_p.R9*|TOLLIP_uc009ycu.2_Intron|TOLLIP_uc001ltf.2_Nonsense_Mutation_p.R28*	NM_019009	NP_061882	Q9H0E2	TOLIP_HUMAN	toll interacting protein	78	C2.				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding				0		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		AGGCGCAGTCGGCAGTAGGGG	0.597													A	1311591	G	A	1311591	4	1	58	1	0	0	0	0	0	1	0	0	16347	1124	39	1	608	1	TOLLIP	11	1311591	Nonsense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08		1311591	133694925	102	43538											
PHLDA2	7262	broad.mit.edu	37	chr11	2950325	2950325	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gccagcgcgatggccgcgttCcagcagctctcgcccgcgca	13	18	1	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr11:2950325C>A	uc001lxa.1	-	1	326	c.270G>T	c.(268-270)TGG>TGT	p.W90C		NM_003311	NP_003302	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain family A member	90	PH.				apoptosis	cytoplasm|membrane					0		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCCGCGTTCCAGCAGCTCT	0.677													A	2950325	C	A	2950325	3	1	58	1	0	0	0	0	1	0	0	0	11849	856	30	5	192	5	PHLDA2	11	2950325	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	1638734	2950325	132056191	103	43539											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5624742	5624742	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccagctaccagccagggaAcctgcggcctaatcggcatc	11	15	0	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr11:5624742A>C	uc001mbf.2	+	2	528	c.284A>C	c.(283-285)AAC>ACC	p.N95T	HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.N67T|TRIM6_uc010qzj.1_Intron|TRIM6_uc001mbc.1_Missense_Mutation_p.N67T|TRIM6_uc001mbe.2_Intron|TRIM6_uc010qzk.1_Intron|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Missense_Mutation_p.N95T|TRIM6_uc001mbg.1_5'Flank|TRIM6_uc009yep.1_5'Flank	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN	tripartite motif-containing 6 and tripartite	95						intracellular	zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		CAGCCAGGGAACCTGCGGCCT	0.557													C	5624742	A	C	5624742	3	2	58	1	0	0	0	0	1	0	0	0	16531	43	2	5	290	5	TRIM6-TRIM34	11	5624742	Missense_Mutation	SNP	A	TCGA-BR-7958-01A-21D-2340-08	2674417	5624742	129381774	104	43540											
OR52E4	390081	broad.mit.edu	37	chr11	5905586	5905586	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgctaggaataccaggaCtggacactttacatatctgg	9	10	1	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr11:5905586C>A	uc010qzs.1	+	1	64	c.64C>A	c.(64-66)CTG>ATG	p.L22M	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATACCAGGACTGGACACTTT	0.428													A	5905586	C	A	5905586	3	1	58	1	0	0	0	0	1	0	0	0	11116	564	20	5	66	5	OR52E4	11	5905586	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	280844	5905586	129100930	105	43541											
ALX4	60529	broad.mit.edu	37	chr11	44331170	44331170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagggaacctgcaaggccGcgctgtggccgctgctgcct	15	14	0	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr11:44331170G>A	uc001myb.2	-	1	547	c.443C>T	c.(442-444)GCG>GTG	p.A148V		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	148					hair follicle development						0						CTGCAAGGCCGCGCTGTGGCC	0.637													A	44331170	G	A	44331170	3	1	58	1	0	0	0	0	1	0	0	0	558	1087	38	1	808	1	ALX4	11	44331170	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	38425584	44331170	90675346	106	43542											
EHD1	10938	broad.mit.edu	37	chr11	64622309	64622309	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcctggaacttgctgaaGtcctgggtctgcaggagttc	14	10	1	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr11:64622309G>A	uc001obu.1	-	5	1356	c.1101C>T	c.(1099-1101)GAC>GAT	p.D367D	EHD1_uc001obt.1_Silent_p.D50D|EHD1_uc001obv.1_Silent_p.D367D|EHD1_uc010rnq.1_Silent_p.D381D	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	367					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding				0						ACTTGCTGAAGTCCTGGGTCT	0.642													A	64622309	G	A	64622309	2	1	58	1	0	0	0	0	0	0	0	1	4977	1020	36	4		4	EHD1	11	64622309	Silent	SNP	G	TCGA-BR-7958-01A-21D-2340-08	20291139	64622309	70384207	107	43543											
ADRBK1	156	broad.mit.edu	37	chr11	67046685	67046685	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagggtacctgctcttcCgagacttctgcctgaaccac	8	15	3	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr11:67046685C>T	uc009yrn.1	+	3	471	c.205C>T	c.(205-207)CGA>TGA	p.R69*	ADRBK1_uc009yrm.1_Nonsense_Mutation_p.R69*	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	69	RGS.|N-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CCTGCTCTTCCGAGACTTCTG	0.592													T	67046685	C	T	67046685	4	4	58	1	0	0	0	0	0	1	0	0	343	644	23	1	215	1	ADRBK1	11	67046685	Nonsense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	2424376	67046685	67959831	108	43544											
SLC35F2	54733	broad.mit.edu	37	chr11	107663450	107663450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctttcagccggctcggccGtgcgagtaggggtggagcag	18	10	1	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr11:107663450G>A	uc001pjq.2	-	8	1437	c.1016C>T	c.(1015-1017)ACG>ATG	p.T339M	SLC35F2_uc010rvu.1_Missense_Mutation_p.T191M	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	339					transport	integral to membrane				central_nervous_system(1)	1		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		CGGCTCGGCCGTGCGAGTAGG	0.562													A	107663450	G	A	107663450	3	1	58	1	0	0	0	0	1	0	0	0	14589	1145	40	1	112	1	SLC35F2	11	107663450	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	40616765	107663450	27343066	109	43545											
NPAT	4863	broad.mit.edu	37	chr11	108043025	108043025	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagaggttgagcagtcatagGtgcagaatttccaggcaaca	12	7	1	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr11:108043025G>T	uc001pjz.3	-	13	2788	c.2686C>A	c.(2686-2688)CCT>ACT	p.P896T	NPAT_uc010rvv.1_5'Flank|NPAT_uc001pka.2_Missense_Mutation_p.P691T	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	896					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GCAGTCATAGGTGCAGAATTT	0.438													T	108043025	G	T	108043025	3	4	58	1	0	0	0	0	1	0	0	0	10566	1261	44	5	1621	5	NPAT	11	108043025	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	379575	108043025	26963491	110	43546											
MLL	4297	broad.mit.edu	37	chr11	118363776	118363776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttcctggcaataggctgCcaagcctccagacttaaatc	7	13	1	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr11:118363776C>T	uc001pta.2	+	16	5023	c.5000C>T	c.(4999-5001)GCC>GTC	p.A1667V	MLL_uc001ptb.2_Missense_Mutation_p.A1670V	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1667					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAATAGGCTGCCAAGCCTCCA	0.428			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								T	118363776	C	T	118363776	3	4	58	1	0	0	0	0	1	0	0	0	9620	739	26	2	5062	2	MLL	11	118363776	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	10320751	118363776	16642740	111	43547											
COPS7A	50813	broad.mit.edu	37	chr12	6839863	6839863	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttaaaaaaaccattaaagTtacgacggcagcagcagccg	8	11	0	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr12:6839863T>G	uc001qqj.2	+	7	904	c.665T>G	c.(664-666)GTT>GGT	p.V222G	COPS7A_uc009zex.2_RNA|COPS7A_uc001qqk.2_Intron|COPS7A_uc001qql.2_RNA|COPS7A_uc001qqh.2_Missense_Mutation_p.V222G|COPS7A_uc001qqi.2_Missense_Mutation_p.V222G|COPS7A_uc001qqm.2_RNA|COPS7A_uc001qqn.3_Missense_Mutation_p.V222G|COPS7A_uc001qqo.2_Missense_Mutation_p.V222G	NM_001164094	NP_001157566	Q9UBW8	CSN7A_HUMAN	COP9 complex subunit 7a	222	Potential.				cullin deneddylation	cytoplasm|signalosome				ovary(1)	1						ACCATTAAAGTTACGACGGCA	0.557													G	6839863	T	G	6839863	3	3	58	1	0	0	0	0	1	0	0	0	3738	1725	60	5	687	5	COPS7A	12	6839863	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08		6839863	127012032	112	43548											
CACNB3	784	broad.mit.edu	37	chr12	49220834	49220834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagtacctggaggtttaCtggcgggccacgcaccaccc	13	14	0	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr12:49220834C>T	uc001rsl.1	+	12	1269	c.1068C>T	c.(1066-1068)TAC>TAT	p.Y356Y	CACNB3_uc010sly.1_Silent_p.Y343Y|CACNB3_uc010slz.1_Silent_p.Y355Y|CACNB3_uc001rsk.1_Silent_p.Y203Y	NM_000725	NP_000716	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3	356					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity				0					Verapamil(DB00661)	TGGAGGTTTACTGGCGGGCCA	0.612													T	49220834	C	T	49220834	2	4	58	1	0	0	0	0	0	0	0	1	2554	576	20	4		4	CACNB3	12	49220834	Silent	SNP	C	TCGA-BR-7958-01A-21D-2340-08	42380971	49220834	84631061	113	43549											
KRT84	3890	broad.mit.edu	37	chr12	52778914	52778914	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgggcattggggtcaatctcCaggttgaggggggtcagtag	18	6	3	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr12:52778914C>G	uc001sah.1	-	1	504	c.456G>C	c.(454-456)CTG>CTC	p.L152L		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	152	Head.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTCAATCTCCAGGTTGAGGG	0.522													G	52778914	C	G	52778914	2	3	58	1	0	0	0	0	0	0	0	1	8498	581	21	5		5	KRT84	12	52778914	Silent	SNP	C	TCGA-BR-7958-01A-21D-2340-08	3558080	52778914	81072981	114	43550											
PFDN5	5204	broad.mit.edu	37	chr12	53689386	53689386	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taacatcacggagctgaatcTgccgcagctagaaatgctca	9	11	3	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr12:53689386T>G	uc001scl.2	+	1	152	c.35T>G	c.(34-36)CTG>CGG	p.L12R	PFDN5_uc001scm.2_Missense_Mutation_p.L12R|PFDN5_uc001scn.2_RNA|PFDN5_uc001sco.2_RNA	NM_002624	NP_002615	Q99471	PFD5_HUMAN	prefoldin subunit 5 isoform alpha	12					'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent	nucleus|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)	1						GAGCTGAATCTGCCGCAGCTA	0.587													G	53689386	T	G	53689386	3	3	58	1	0	0	0	0	1	0	0	0	11758	1580	55	5	37	5	PFDN5	12	53689386	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08	910472	53689386	80162509	115	43551											
COPZ1	22818	broad.mit.edu	37	chr12	54741794	54741794	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtttttgcagggtgatcctaGagagtgatccccagcaggtg	14	8	0	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr12:54741794G>T	uc001sfs.1	+	7	443	c.406G>T	c.(406-408)GAG>TAG	p.E136*	COPZ1_uc001sft.2_Nonsense_Mutation_p.E85*|COPZ1_uc009znm.1_Nonsense_Mutation_p.E144*|COPZ1_uc010sot.1_Nonsense_Mutation_p.E113*	NM_016057	NP_057141	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	136					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol					0						GGTGATCCTAGAGAGTGATCC	0.527													T	54741794	G	T	54741794	4	4	58	1	0	0	0	0	0	1	0	0	3741	943	33	5	432	5	COPZ1	12	54741794	Nonsense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	1052408	54741794	79110101	116	43552											
C12orf63	374467	broad.mit.edu	37	chr12	97045414	97045414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctgcttcagaactgctgtCgggccttatggaactttact	9	11	2	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr12:97045414C>T	uc001tet.1	+	3	274	c.196C>T	c.(196-198)CGG>TGG	p.R66W		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	66										skin(6)|ovary(1)	7						GAACTGCTGTCGGGCCTTATG	0.403													T	97045414	C	T	97045414	3	4	58	1	0	0	0	0	1	0	0	0	1706	875	31	1	202	1	C12orf63	12	97045414	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	42303620	97045414	36806481	117	43553											
SLC15A4	121260	broad.mit.edu	37	chr12	129293454	129293454	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtccttcagagggatgagCaggaggatgagcacagcatc	14	8	1	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr12:129293454C>A	uc001uhu.2	-	5	1190	c.1137G>T	c.(1135-1137)CTG>CTT	p.L379L	SLC15A4_uc001uhv.2_RNA	NM_145648	NP_663623	Q8N697	S15A4_HUMAN	solute carrier family 15, member 4	379	Helical; (Potential).				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		GAGGGATGAGCAGGAGGATGA	0.557													A	129293454	C	A	129293454	2	1	58	1	0	0	0	0	0	0	0	1	14401	697	25	5		5	SLC15A4	12	129293454	Silent	SNP	C	TCGA-BR-7958-01A-21D-2340-08	32248040	129293454	4558441	118	43554											
TUBA3C	7278	broad.mit.edu	37	chr13	19753576	19753576	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttgaaggagtcgtccccaCcaccaatggttttatcactt	8	11	1	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr13:19753576C>A	uc009zzj.2	-	2	180	c.131G>T	c.(130-132)GGT>GTT	p.G44V		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	44					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)|skin(2)	5		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GTCGTCCCCACCACCAATGGT	0.562													A	19753576	C	A	19753576	3	1	58	1	0	0	0	0	1	0	0	0	16743	507	18	5	1237	5	TUBA3C	13	19753576	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08		19753576	95416302	119	43555											
SLC7A1	6541	broad.mit.edu	37	chr13	30096542	30096542	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatttaaatagcagtccatcCtcagccatggcatagataac	6	10	1	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr13:30096542C>A	uc001uso.2	-	8	1488	c.1101G>T	c.(1099-1101)GAG>GAT	p.E367D		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	367	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCAGTCCATCCTCAGCCATGG	0.488													A	30096542	C	A	30096542	3	1	58	1	0	0	0	0	1	0	0	0	14692	680	24	5	812	5	SLC7A1	13	30096542	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	10342966	30096542	85073336	120	43556											
NBEA	26960	broad.mit.edu	37	chr13	35756602	35756602	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagaaccccagagagagactAcaagaactggaagccaacca	9	11	0	4			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr13:35756602A>G	uc001uvb.2	+	29	4974	c.4768A>G	c.(4768-4770)ACA>GCA	p.T1590A	NBEA_uc010abi.2_Missense_Mutation_p.T278A	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1590						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAGAGAGACTACAAGAACTGG	0.378													G	35756602	A	G	35756602	3	3	58	1	0	0	0	0	1	0	0	0	10187	391	14	3	4882	3	NBEA	13	35756602	Missense_Mutation	SNP	A	TCGA-BR-7958-01A-21D-2340-08	5660060	35756602	79413276	121	43557											
FREM2	341640	broad.mit.edu	37	chr13	39265503	39265503	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagacaaatctttggtttAtattattcgttatgggccag	9	5	1	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr13:39265503A>C	uc001uwv.2	+	1	4331	c.4022A>C	c.(4021-4023)TAT>TCT	p.Y1341S		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1341	Extracellular (Potential).|CSPG 9.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCTTTGGTTTATATTATTCGT	0.348													C	39265503	A	C	39265503	3	2	58	1	0	0	0	0	1	0	0	0	6045	449	16	5	4024	5	FREM2	13	39265503	Missense_Mutation	SNP	A	TCGA-BR-7958-01A-21D-2340-08	3508901	39265503	75904375	122	43558											
TNFSF11	8600	broad.mit.edu	37	chr13	43181028	43181028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgcaacatactttgggGcttttaaagttcgagatata	10	5	0	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr13:43181028G>A	uc001uyu.2	+	5	1077	c.928G>A	c.(928-930)GCT>ACT	p.A310T	TNFSF11_uc001uyt.2_Missense_Mutation_p.A237T	NM_003701	NP_003692	O14788	TNF11_HUMAN	tumor necrosis factor ligand superfamily, member	310	Extracellular (Potential).				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding				0		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		ATACTTTGGGGCTTTTAAAGT	0.413													A	43181028	G	A	43181028	3	1	58	1	0	0	0	0	1	0	0	0	16299	1203	42	2	946	2	TNFSF11	13	43181028	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	3915525	43181028	71988850	123	43559											
RCBTB1	55213	broad.mit.edu	37	chr13	50141342	50141342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgaggtgccgaagacaCacgccttccgaatagacgcg	13	12	0	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr13:50141342C>T	uc001vde.1	-	3	335	c.74G>A	c.(73-75)TGT>TAT	p.C25Y		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and	25					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(1)	1		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GCCGAAGACACACGCCTTCCG	0.468													T	50141342	C	T	50141342	3	4	58	1	0	0	0	0	1	0	0	0	13171	478	17	4	1565	4	RCBTB1	13	50141342	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	6960314	50141342	65028536	124	43560											
FOXG1	2290	broad.mit.edu	37	chr14	29237469	29237469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcactttgagttacaaCggcaccacgtcggcctaccc	9	15	0	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr14:29237469C>T	uc001wqe.2	+	1	1183	c.984C>T	c.(982-984)AAC>AAT	p.N328N		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	328					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TGAGTTACAACGGCACCACGT	0.657													T	29237469	C	T	29237469	2	4	58	1	0	0	0	0	0	0	0	1	6007	535	19	1		1	FOXG1	14	29237469	Silent	SNP	C	TCGA-BR-7958-01A-21D-2340-08		29237469	78112071	125	43561											
NIN	51199	broad.mit.edu	37	chr14	51237170	51237170	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttgccttttcaatttccTgttcaagttctaaacgctgc	5	10	3	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr14:51237170T>C	uc001wym.2	-	12	1561	c.1370A>G	c.(1369-1371)CAG>CGG	p.Q457R	NIN_uc001wyi.2_Missense_Mutation_p.Q457R|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.Q457R|NIN_uc010tqp.1_Missense_Mutation_p.Q463R|NIN_uc001wyo.2_Missense_Mutation_p.Q457R|NIN_uc001wyp.1_Missense_Mutation_p.Q419R	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	457	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					TTCAATTTCCTGTTCAAGTTC	0.453			T	PDGFRB	MPD								C	51237170	T	C	51237170	3	2	58	1	0	0	0	0	1	0	0	0	10417	1580	55	3	5259	3	NIN	14	51237170	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08	21999701	51237170	56112370	126	43562											
BMP4	652	broad.mit.edu	37	chr14	54418777	54418777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtgtcgcctcgaagtccCgcaggagctcatggctctgc	13	13	2	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr14:54418777C>T	uc001xal.3	-	2	351	c.164G>A	c.(163-165)CGG>CAG	p.R55Q	BMP4_uc010aoh.2_Missense_Mutation_p.R55Q|BMP4_uc001xao.3_Missense_Mutation_p.R55Q|BMP4_uc001xan.3_Missense_Mutation_p.R55Q	NM_130851	NP_570912	P12644	BMP4_HUMAN	bone morphogenetic protein 4 preproprotein	55					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity				0						CTCGAAGTCCCGCAGGAGCTC	0.612													T	54418777	C	T	54418777	3	4	58	1	0	0	0	0	1	0	0	0	1462	652	23	1	1070	1	BMP4	14	54418777	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	3181607	54418777	52930763	127	43563											
KTN1	3895	broad.mit.edu	37	chr14	56079048	56079048	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgctttggcagtagaagaTgatcaagttgcacctgttcc	11	8	1	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr14:56079048T>C	uc001xcb.2	+	3	584	c.282T>C	c.(280-282)GAT>GAC	p.D94D	KTN1_uc001xce.2_Silent_p.D94D|KTN1_uc001xcc.2_Silent_p.D94D|KTN1_uc001xcd.2_Silent_p.D94D|KTN1_uc010trb.1_Silent_p.D94D|KTN1_uc001xcf.1_Silent_p.D94D	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	kinectin 1 isoform a	94	Lumenal (Potential).				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						CAGTAGAAGATGATCAAGTTG	0.368			T	RET	papillary thryoid								C	56079048	T	C	56079048	2	2	58	1	0	0	0	0	0	0	0	1	8585	1461	51	3		3	KTN1	14	56079048	Silent	SNP	T	TCGA-BR-7958-01A-21D-2340-08	1660271	56079048	51270492	128	43564											
SYNE2	23224	broad.mit.edu	37	chr14	64486739	64486740	+	Frame_Shift_Del	DEL	TT	TT	-													caagtccatgaacaaaaaacTtcagaattttctagaagagt							TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr14:64486738_64486739CTT>C	uc001xgl.3	+	34	5308_5309	c.5078_5079CTT>C	c.(5077-5079)actfs	p.T1693fs	SYNE2_uc001xgm.3_Frame_Shift_Del_p.T1693fs|SYNE2_uc021ruh.1_Frame_Shift_Del_p.T1693fs	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	1693					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAACAAAAAACTTCAGAATTTT	0.292													-	64486740	TT	-	64486739	7	5	58	1	0	1	0	1	0	0	0	0	15443	1596	56	0	5213	0	SYNE2	14	64486739	Frame_Shift_Del	DEL	TT	TCGA-BR-7958-01A-21D-2340-08	8407691	64486739	42862801	129	43565											
ACOT2	10965	broad.mit.edu	37	chr14	74036520	74036520	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggcacgagcgctacttcctCccgcccggggtgcggcgcga	15	17	0	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr14:74036520C>T	uc001xon.3	+	1	749	c.576C>T	c.(574-576)CTC>CTT	p.L192L	ACOT1_uc010tuc.1_Intron|ACOT2_uc001xom.2_Intron	NM_006821	NP_006812	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	192					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GCTACTTCCTCCCGCCCGGGG	0.716													T	74036520	C	T	74036520	2	4	58	1	0	0	0	0	0	0	0	1	152	842	30	4		4	ACOT2	14	74036520	Silent	SNP	C	TCGA-BR-7958-01A-21D-2340-08	9549781	74036520	33313020	130	43566											
AHNAK2	113146	broad.mit.edu	37	chr14	105414259	105414259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcggcctccaccttcggcGcagacacatccaccgaggcc	10	19	0	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr14:105414259G>A	uc010axc.1	-	7	7649	c.7529C>T	c.(7528-7530)GCG>GTG	p.A2510V	AHNAK2_uc001ypx.2_Missense_Mutation_p.A2410V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2510						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)			CACCTTCGGCGCAGACACATC	0.607													A	105414259	G	A	105414259	3	1	58	1	0	0	0	0	1	0	0	0	415	1087	38	1	9862	1	AHNAK2	14	105414259	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	31377739	105414259	1935281	131	43567											
NIPA2	81614	broad.mit.edu	37	chr15	23006656	23006656	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagcagaatccaagccagGggatgccgcagcacaggctt	13	12	0	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr15:23006656G>T	uc001yux.2	-	8	1261	c.648C>A	c.(646-648)CCC>CCA	p.P216P	NIPA2_uc001yuy.2_Silent_p.P216P|NIPA2_uc001yuz.2_Silent_p.P216P|NIPA2_uc001yva.2_Silent_p.P197P|NIPA2_uc001yvb.2_Silent_p.P216P|NIPA2_uc010ayb.2_Silent_p.P197P	NM_030922	NP_112184	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome	216	Helical; (Potential).					early endosome|integral to membrane|plasma membrane				haematopoietic_and_lymphoid_tissue(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		TCCAAGCCAGGGGATGCCGCA	0.512													T	23006656	G	T	23006656	2	4	58	1	0	0	0	0	0	0	0	1	10423	1219	43	5		5	NIPA2	15	23006656	Silent	SNP	G	TCGA-BR-7958-01A-21D-2340-08		23006656	79524736	132	43568											
RPUSD2	27079	broad.mit.edu	37	chr15	40864085	40864085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagagaattcacgagcagGttcgggaccggcaggtgagt	16	8	1	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr15:40864085G>A	uc001zmd.1	+	2	889	c.889G>A	c.(889-891)GTT>ATT	p.V297I		NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing	297					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			skin(1)	1		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TCACGAGCAGGTTCGGGACCG	0.547													A	40864085	G	A	40864085	3	1	58	1	0	0	0	0	1	0	0	0	13667	1261	44	4	895	4	RPUSD2	15	40864085	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	17857429	40864085	61667307	133	43569											
TYRO3	7301	broad.mit.edu	37	chr15	41870130	41870130	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgaccccaagcagcgcCcgagctttacttgtctgcga	11	14	1	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr15:41870130C>G	uc001zof.1	+	19	2553	c.2329C>G	c.(2329-2331)CCG>GCG	p.P777A		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	777	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CAAGCAGCGCCCGAGCTTTAC	0.552													G	41870130	C	G	41870130	3	3	58	1	0	0	0	0	1	0	0	0	16811	623	22	5	2403	5	TYRO3	15	41870130	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	1006045	41870130	60661262	134	43570											
SMAD3	4088	broad.mit.edu	37	chr15	67473722	67473722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgacccctccaattcggagCgcttctgcctagggctgctc	10	17	1	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr15:67473722C>T	uc002aqj.2	+	6	1100	c.802C>T	c.(802-804)CGC>TGC	p.R268C	SMAD3_uc010ujr.1_Missense_Mutation_p.R163C|SMAD3_uc010ujs.1_Missense_Mutation_p.R224C|SMAD3_uc010ujt.1_Missense_Mutation_p.R73C	NM_005902	NP_005893	P84022	SMAD3_HUMAN	mothers against decapentaplegic homolog 3	268	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CAATTCGGAGCGCTTCTGCCT	0.607													T	67473722	C	T	67473722	3	4	58	1	0	0	0	0	1	0	0	0	14759	768	27	1	902	1	SMAD3	15	67473722	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	25603592	67473722	35057670	135	43571											
C15orf27	123591	broad.mit.edu	37	chr15	76494574	76494600	+	In_Frame_Del	DEL	CATCAGTCAGTATTACAATGGGCCCAG	CATCAGTCAGTATTACAATGGGCCCAG	-													aaggacgacatgaacagctaCatcagtcagtattacaatgg							TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr15:76494573_76494599ACATCAGTCAGTATTACAATGGGCCCAG>A	uc002bbq.3	+	9	1144_1170	c.989_1015ACATCAGTCAGTATTACAATGGGCCCAG>A	c.(988-1017)tacatcagtcagtattacaatgggcccagc>tAgc	p.330_339YISQYYNGPS>*	C15orf27_uc010bkp.3_In_Frame_Del_p.146_155YISQYYNGPS>*|C15orf27_uc002bbr.3_In_Frame_Del_p.146_155YISQYYNGPS>*|C15orf27_uc002bbs.3_In_Frame_Del_p.8_17YISQYYNGPS>*	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	330						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						ATGAACAGCTACATCAGTCAGTATTACAATGGGCCCAGCAGTGGTAA	0.52													-	76494600	CATCAGTCAGTATTACAATGGGCCCAG	-	76494574	7	5	58	1	0	1	0	1	0	0	0	0	1788	489	17	0	1024	0	C15orf27	15	76494574	In_Frame_Del	DEL	CATCAGTCAGTATTACAATGGGCCCAG	TCGA-BR-7958-01A-21D-2340-08	9020852	76494574	26036818	136	43572											
RHBDF1	64285	broad.mit.edu	37	chr16	112539	112539	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgccgcactcacagcAtcaggtggctgcgctcaagc	11	16	3	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr16:112539A>C	uc002cfl.3	-	10	1098	c.950T>G	c.(949-951)ATG>AGG	p.M317R	RHBDF1_uc010uty.1_Missense_Mutation_p.M340R|RHBDF1_uc010utz.1_Missense_Mutation_p.M317R|RHBDF1_uc010bqo.1_RNA	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	317	Cytoplasmic (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CACTCACAGCATCAGGTGGCT	0.677													C	112539	A	C	112539	3	2	58	1	0	0	0	0	1	0	0	0	13319	217	8	5	1665	5	RHBDF1	16	112539	Missense_Mutation	SNP	A	TCGA-BR-7958-01A-21D-2340-08		112539	90242214	137	43573											
C1QTNF8	390664	broad.mit.edu	37	chr16	1144784	1144784	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaggtcccccctccacaGgtccctgtcactcacccggg	8	21	2	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr16:1144784G>A	uc010uuw.1	-	3	413	c.139C>T	c.(139-141)CTG>TTG	p.L47L		NM_207419	NP_997302	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	47						collagen				skin(1)	1		Hepatocellular(780;0.00369)				CCCCTCCACAGGTCCCTGTCA	0.701													A	1144784	G	A	1144784	2	1	58	1	0	0	0	0	0	0	0	1	1969	991	35	4		4	C1QTNF8	16	1144784	Silent	SNP	G	TCGA-BR-7958-01A-21D-2340-08	1032245	1144784	89209969	138	43574											
UBN1	29855	broad.mit.edu	37	chr16	4924871	4924871	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaaacttcacgcccccAtctccatttgccaataagct	4	15	2	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr16:4924871A>G	uc002cyb.2	+	15	2799	c.2460A>G	c.(2458-2460)CCA>CCG	p.P820P	UBN1_uc010uxw.1_Silent_p.P820P|UBN1_uc002cyc.2_Silent_p.P820P	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	820					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						TCACGCCCCCATCTCCATTTG	0.582													G	4924871	A	G	4924871	2	3	58	1	0	0	0	0	0	0	0	1	16889	204	8	3		3	UBN1	16	4924871	Silent	SNP	A	TCGA-BR-7958-01A-21D-2340-08	3780087	4924871	85429882	139	43575											
MYH11	4629	broad.mit.edu	37	chr16	15835704	15835704	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcagttcatcctccttggcCtgcatctcctcctcctgccg	7	18	2	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr16:15835704C>G	uc002ddy.2	-	21	2672	c.2565G>C	c.(2563-2565)CAG>CAC	p.Q855H	MYH11_uc002ddv.2_Missense_Mutation_p.Q862H|MYH11_uc002ddw.2_Missense_Mutation_p.Q855H|MYH11_uc002ddx.2_Missense_Mutation_p.Q862H|MYH11_uc010bvg.2_Missense_Mutation_p.Q687H	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	855	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						CCTCCTTGGCCTGCATCTCCT	0.532			T	CBFB	AML								G	15835704	C	G	15835704	3	3	58	1	0	0	0	0	1	0	0	0	10031	680	24	5	3472	5	MYH11	16	15835704	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	10910833	15835704	74519049	140	43576											
SRCAP	10847	broad.mit.edu	37	chr16	30750475	30750475	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gttctcgagagctgtggattGgggaggcgacggcaacccca	16	10	1	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr16:30750475G>C	uc002dze.1	+	34	9499	c.9114G>C	c.(9112-9114)TTG>TTC	p.L3038F	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.L2833F	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	3038					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			GCTGTGGATTGGGGAGGCGAC	0.652													C	30750475	G	C	30750475	3	2	58	1	0	0	0	0	1	0	0	0	15134	1339	47	5	9240	5	SRCAP	16	30750475	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	14914771	30750475	59604278	141	43577											
ZNF646	9726	broad.mit.edu	37	chr16	31091735	31091735	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacggtccaggcgcacagctGtgcgttgcgccctctgtggc	15	14	1	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr16:31091735G>C	uc002eap.2	+	2	4379	c.4090G>C	c.(4090-4092)GTG>CTG	p.V1364L		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1364	C2H2-type 25.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						GCGCACAGCTGTGCGTTGCGC	0.662													C	31091735	G	C	31091735	3	2	58	1	0	0	0	0	1	0	0	0	18059	1377	48	5	4092	5	ZNF646	16	31091735	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	341260	31091735	59263018	142	43578											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67859121	67859121	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cctgtaagatcctcatcgcaGacctgaatgagctgcggtac	10	12	1	4			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr16:67859121G>C	uc002euj.2	+	7	992	c.598G>C	c.(598-600)GAC>CAC	p.D200H	TSNAXIP1_uc010cep.2_Missense_Mutation_p.D64H|TSNAXIP1_uc010vjz.1_Missense_Mutation_p.D77H|TSNAXIP1_uc002euf.3_5'UTR|TSNAXIP1_uc010vka.1_Missense_Mutation_p.D254H|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.D185H|TSNAXIP1_uc002eug.3_5'UTR|TSNAXIP1_uc002euh.3_5'UTR|TSNAXIP1_uc002eui.3_5'UTR|TSNAXIP1_uc002euk.2_5'UTR	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	200					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CCTCATCGCAGACCTGAATGA	0.542													C	67859121	G	C	67859121	3	2	58	1	0	0	0	0	1	0	0	0	16629	942	33	5	616	5	TSNAXIP1	16	67859121	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	36767386	67859121	22495632	143	43579											
AP1G1	164	broad.mit.edu	37	chr16	71823368	71823368	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cggatcagctcccgcaatctGatgggggctggcatcctctg	13	13	3	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr16:71823368G>A	uc010cgg.2	-	2	329	c.15C>T	c.(13-15)ATC>ATT	p.I5I	AP1G1_uc002fba.2_Silent_p.I5I|AP1G1_uc002fbb.2_Silent_p.I28I|AP1G1_uc010vmg.1_RNA|AP1G1_uc010vmh.1_Silent_p.I87I	NM_001128	NP_001119	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1	5					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			ovary(2)	2		Ovarian(137;0.125)				CCCGCAATCTGATGGGGGCTG	0.438													A	71823368	G	A	71823368	2	1	58	1	0	0	0	0	0	0	0	1	732	1280	45	4		4	AP1G1	16	71823368	Silent	SNP	G	TCGA-BR-7958-01A-21D-2340-08	3964247	71823368	18531385	144	43580											
TUBB3	10381	broad.mit.edu	37	chr16	90001646	90001646	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acatggtgcccttcccgcgcCtgcacttcttcatgcccggc	9	18	2	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr16:90001646C>G	uc002fph.1	+	4	852	c.787C>G	c.(787-789)CTG>GTG	p.L263V	TUBB3_uc002fpf.2_Missense_Mutation_p.L610V|TUBB3_uc010ciz.1_Missense_Mutation_p.L191V|TUBB3_uc002fpg.1_Missense_Mutation_p.L117V|TUBB3_uc002fpi.1_Missense_Mutation_p.L191V|TUBB3_uc002fpj.1_Missense_Mutation_p.L191V|TUBB3_uc010cjb.1_Missense_Mutation_p.L117V|TUBB3_uc002fpk.1_Missense_Mutation_p.L117V	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	263					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CTTCCCGCGCCTGCACTTCTT	0.677													G	90001646	C	G	90001646	3	3	58	1	0	0	0	0	1	0	0	0	16754	680	24	5	801	5	TUBB3	16	90001646	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	18178278	90001646	353107	145	43581											
SERPINF2	5345	broad.mit.edu	37	chr17	1650662	1650662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctatttggggcaaagcccGtgagcctgacgggaaagcag	15	9	0	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr17:1650662G>A	uc002ftk.1	+	7	648	c.571G>A	c.(571-573)GTG>ATG	p.V191M	SERPINF2_uc010vqr.1_Missense_Mutation_p.V127M	NM_000934	NP_000925	P08697	A2AP_HUMAN	alpha-2-antiplasmin isoform a precursor	191					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	GGCAAAGCCCGTGAGCCTGAC	0.552													A	1650662	G	A	1650662	3	1	58	1	0	0	0	0	1	0	0	0	14115	1145	40	1	603	1	SERPINF2	17	1650662	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08		1650662	79544548	146	43582											
OR3A3	8392	broad.mit.edu	37	chr17	3324390	3324390	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccatgtccacgctcaacTtctgtggccccaatgaggtc	10	14	2	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr17:3324390T>G	uc010vrd.1	+	1	529	c.529T>G	c.(529-531)TTC>GTC	p.F177V		NM_012373	NP_036505	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A,	177	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CACGCTCAACTTCTGTGGCCC	0.567													G	3324390	T	G	3324390	3	3	58	1	0	0	0	0	1	0	0	0	11039	1609	56	5	531	5	OR3A3	17	3324390	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08	1673728	3324390	77870820	147	43583											
EIF4A1	1973	broad.mit.edu	37	chr17	7481767	7481767	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccttctacaacacctccaTtgaggaaatgcccctcaatg	6	14	2	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr17:7481767T>C	uc002gho.1	+	19	2509	c.1184T>C	c.(1183-1185)ATT>ACT	p.I395T	EIF4A1_uc002ghr.1_3'UTR|EIF4A1_uc002ghq.1_3'UTR|EIF4A1_uc002ghp.1_Missense_Mutation_p.I395T|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A	395	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			ovary(1)	1						AACACCTCCATTGAGGAAATG	0.552													C	7481767	T	C	7481767	3	2	58	1	0	0	0	0	1	0	0	0	5024	1493	52	3	1226	3	EIF4A1	17	7481767	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08	4157377	7481767	73713443	148	43584											
KRTAP4-3	85290	broad.mit.edu	37	chr17	39323897	39323897	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgttctacagcaggtggtCgggcagctgaaagggcagcg	17	8	1	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr17:39323897C>T	uc010cxl.2	-	1	528	c.528G>A	c.(526-528)CCG>CCA	p.P176P		NM_033187	NP_149443	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	176	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCAGGTGGTCGGGCAGCTGA	0.592													T	39323897	C	T	39323897	2	4	58	1	0	0	0	0	0	0	0	1	8552	871	31	1		1	KRTAP4-3	17	39323897	Silent	SNP	C	TCGA-BR-7958-01A-21D-2340-08	31842130	39323897	41871313	149	43585											
MPP2	4355	broad.mit.edu	37	chr17	41959741	41959741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagctcctgcagtgcgcGggggtcactgcccactggct	15	14	1	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr17:41959741G>A	uc010wip.1	-	6	784	c.727C>T	c.(727-729)CGC>TGC	p.R243C	MPP2_uc002ien.1_Missense_Mutation_p.R215C|MPP2_uc010wim.1_Missense_Mutation_p.R187C|MPP2_uc002ieo.1_Missense_Mutation_p.R198C|MPP2_uc010win.1_Missense_Mutation_p.R59C|MPP2_uc010wio.1_Missense_Mutation_p.R187C|MPP2_uc010czm.1_Missense_Mutation_p.R181C	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	222	PDZ.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TGCAGTGCGCGGGGGTCACTG	0.652													A	41959741	G	A	41959741	3	1	58	1	0	0	0	0	1	0	0	0	9734	1116	39	1	1098	1	MPP2	17	41959741	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	2635844	41959741	39235469	150	43586											
MRC2	9902	broad.mit.edu	37	chr17	60758196	60758196	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcttccaggaggccgagTacaagttctttgagcaccac	11	12	1	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr17:60758196T>A	uc002jad.2	+	17	2911	c.2509T>A	c.(2509-2511)TAC>AAC	p.Y837N	MRC2_uc002jae.2_5'UTR|MRC2_uc002jaf.2_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	837	Extracellular (Potential).|C-type lectin 5.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GGAGGCCGAGTACAAGTTCTT	0.701													A	60758196	T	A	60758196	3	1	58	1	0	0	0	0	1	0	0	0	9758	1638	57	5	2575	5	MRC2	17	60758196	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08	18798455	60758196	20437014	151	43587											
NUP85	79902	broad.mit.edu	37	chr17	73201747	73201747	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggtttgggcttgcaggcgCtgcaggagacgcccaggcgg	19	10	0	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr17:73201747C>A	uc002jng.1	+	1	151	c.-109C>A	c.(-111--107)CGCTG>CGATG		NUP85_uc010dgd.1_Translation_Start_Site|NUP85_uc010wrv.1_Translation_Start_Site	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CTTGCAGGCGCTGCAGGAGAC	0.677													A	73201747	C	A	73201747	1	1	58	1	0	0	0	0	0	0	0	0	10770	812	28	5		5	NUP85	17	73201747	Translation_Start_Site	SNP	C	TCGA-BR-7958-01A-21D-2340-08	12443551	73201747	7993463	152	43588											
SPHK1	8877	broad.mit.edu	37	chr17	74382950	74382950	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctattgctgtgccgccggctGctgtcacccatgaacctgct	10	15	1	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr17:74382950G>A	uc002jrf.1	+	8	1247	c.438G>A	c.(436-438)CTG>CTA	p.L146L	SPHK1_uc002jrg.1_Silent_p.L95L|SPHK1_uc002jrh.2_Silent_p.L160L|SPHK1_uc002jrj.2_Silent_p.L232L|SPHK1_uc002jri.2_Silent_p.L146L|SPHK1_uc002jrk.3_Silent_p.L146L|uc010wtd.1_RNA	NM_001142602	NP_001136074	Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1 isoform 3	146	DAGKc.				'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			kidney(1)	1						GCCGCCGGCTGCTGTCACCCA	0.587													A	74382950	G	A	74382950	2	1	58	1	0	0	0	0	0	0	0	1	15045	1306	46	2		2	SPHK1	17	74382950	Silent	SNP	G	TCGA-BR-7958-01A-21D-2340-08	1181203	74382950	6812260	153	43589											
NPTX1	4884	broad.mit.edu	37	chr17	78449909	78449909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcccatggtgttcttgcccGagccgggctgcttgcggccg	15	15	1	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr17:78449909G>A	uc002jyp.1	-	1	496	c.338C>T	c.(337-339)TCG>TTG	p.S113L		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	neuronal pentraxin I precursor	113					central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding				0	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GTTCTTGCCCGAGCCGGGCTG	0.572													A	78449909	G	A	78449909	3	1	58	1	0	0	0	0	1	0	0	0	10602	1059	37	1	980	1	NPTX1	17	78449909	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	4066959	78449909	2745301	154	43590											
ARHGAP28	79822	broad.mit.edu	37	chr18	6882152	6882152	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcaataccgtgaagaacTtgatgccaagtttaatgctg	9	8	0	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr18:6882152T>C	uc010wzi.1	+	10	1014	c.776T>C	c.(775-777)CTT>CCT	p.L259P	ARHGAP28_uc002knc.2_Missense_Mutation_p.L384P|ARHGAP28_uc002knd.2_Missense_Mutation_p.L277P|ARHGAP28_uc002kne.2_Missense_Mutation_p.L277P|ARHGAP28_uc002knf.2_Missense_Mutation_p.L268P			B4DXL2	B4DXL2_HUMAN	SubName: Full=Putative uncharacterized protein ARHGAP28;	259					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)				CGTGAAGAACTTGATGCCAAG	0.378													C	6882152	T	C	6882152	3	2	58	1	0	0	0	0	1	0	0	0	877	1609	56	3	864	3	ARHGAP28	18	6882152	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08		6882152	71195096	155	43591											
RALBP1	10928	broad.mit.edu	37	chr18	9530858	9530858	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaaccaagattgcacaagaGatagccagtctttcaaaaga	8	8	2	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr18:9530858G>A	uc002kob.2	+	7	1597	c.1374G>A	c.(1372-1374)GAG>GAA	p.E458E	RALBP1_uc002koc.2_Silent_p.E458E	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	458	Interacts with RalA.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			central_nervous_system(1)	1						TTGCACAAGAGATAGCCAGTC	0.348													A	9530858	G	A	9530858	2	1	58	1	0	0	0	0	0	0	0	1	13012	933	33	4		4	RALBP1	18	9530858	Silent	SNP	G	TCGA-BR-7958-01A-21D-2340-08	2648706	9530858	68546390	156	43592											
CHST9	83539	broad.mit.edu	37	chr18	24496429	24496429	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgtaaaaagtaattggcatCttcttccaaagtctcaaatt	5	8	3	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr18:24496429C>A	uc002kwd.2	-	5	1324	c.1126G>T	c.(1126-1128)GAT>TAT	p.D376Y	C18orf16_uc002kwb.2_Intron|C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_Missense_Mutation_p.D291Y|CHST9_uc002kwe.2_Missense_Mutation_p.D376Y	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN	GalNAc-4-sulfotransferase 2	376	Lumenal (Potential).				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			ovary(2)|skin(1)	3	all_lung(6;0.0145)|Ovarian(20;0.124)					TAATTGGCATCTTCTTCCAAA	0.408													A	24496429	C	A	24496429	3	1	58	1	0	0	0	0	1	0	0	0	3411	913	32	5	209	5	CHST9	18	24496429	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	14965571	24496429	53580819	157	43593											
FHOD3	80206	broad.mit.edu	37	chr18	34297852	34297852	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggacagtgtggcgacatccTcaccaacaaacggttcatgc	10	12	2	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr18:34297852T>C	uc002kzt.1	+	15	2112	c.2015T>C	c.(2014-2016)CTC>CCC	p.L672P	FHOD3_uc002kzs.1_Missense_Mutation_p.L689P|FHOD3_uc010dmz.1_Missense_Mutation_p.L404P|FHOD3_uc010dna.1_5'UTR	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	672					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GGCGACATCCTCACCAACAAA	0.547													C	34297852	T	C	34297852	3	2	58	1	0	0	0	0	1	0	0	0	5883	1551	54	3	2128	3	FHOD3	18	34297852	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08	9801423	34297852	43779396	158	43594											
SMAD4	4089	broad.mit.edu	37	chr18	48591940	48591940	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cttttgtttgggtcaactctCcaatgtccacaggacagaag	9	10	2	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr18:48591940C>G	uc010xdp.1	+	9	1641	c.1103C>G	c.(1102-1104)TCC>TGC	p.S368C	SMAD4_uc002lfb.3_Missense_Mutation_p.S213C	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	368	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(2)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGTCAACTCTCCAATGTCCAC	0.403									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				G	48591940	C	G	48591940	3	3	58	1	0	0	0	0	1	0	0	0	14760	855	30	5	1133	5	SMAD4	18	48591940	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	14294088	48591940	29485308	159	43595											
C3	718	broad.mit.edu	37	chr19	6712323	6712323	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatgctgagtttggccacgCcatctccctgggttagagac	12	11	1	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr19:6712323C>A	uc002mfm.2	-	11	1276	c.1214G>T	c.(1213-1215)GGC>GTC	p.G405V		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	405					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TTTGGCCACGCCATCTCCCTG	0.617													A	6712323	C	A	6712323	3	1	58	1	0	0	0	0	1	0	0	0	2204	739	26	5	3901	5	C3	19	6712323	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08		6712323	52416660	160	43596											
ADAMTS10	81794	broad.mit.edu	37	chr19	8668647	8668647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtccaggtgggggtgaCgcagagaggaacgcttgtac	17	8	0	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr19:8668647C>T	uc002mkj.1	-	5	831	c.557G>A	c.(556-558)CGT>CAT	p.R186H	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	186					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						GTGGGGGTGACGCAGAGAGGA	0.587													T	8668647	C	T	8668647	3	4	58	1	0	0	0	0	1	0	0	0	256	536	19	1	2842	1	ADAMTS10	19	8668647	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	1956324	8668647	50460336	161	43597											
MUC16	94025	broad.mit.edu	37	chr19	9048395	9048395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacagctgagctggcttctGccccatgactggtggccatt	12	12	1	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr19:9048395G>A	uc002mkp.2	-	5	33440	c.33236C>T	c.(33235-33237)GCA>GTA	p.A11079V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11081	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GCTGGCTTCTGCCCCATGACT	0.498													A	9048395	G	A	9048395	3	1	58	1	0	0	0	0	1	0	0	0	9973	1319	46	2	10607	2	MUC16	19	9048395	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	379748	9048395	50080588	162	43598											
MYO9B	4650	broad.mit.edu	37	chr19	17298761	17298761	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaagagctgtgctttgaCgacgagctggtcctgcagca	13	10	0	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr19:17298761C>T	uc010eak.2	+	19	2747	c.2595C>T	c.(2593-2595)GAC>GAT	p.D865D	MYO9B_uc002nfi.2_Silent_p.D865D|MYO9B_uc002nfj.1_Silent_p.D865D	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	865	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						TGTGCTTTGACGACGAGCTGG	0.602													T	17298761	C	T	17298761	2	4	58	1	0	0	0	0	0	0	0	1	10085	535	19	1		1	MYO9B	19	17298761	Silent	SNP	C	TCGA-BR-7958-01A-21D-2340-08	8250366	17298761	41830222	163	43599											
DMRTC2	63946	broad.mit.edu	37	chr19	42355654	42355654	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cttccttcttgcctgtagctCctgctggaggaagaggattc	11	11	1	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr19:42355654C>G	uc002ors.2	+	9	1077	c.994C>G	c.(994-996)CCT>GCT	p.P332A	DMRTC2_uc002orr.1_3'UTR|DMRTC2_uc010xwe.1_Missense_Mutation_p.P383A	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	332	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0						GCCTGTAGCTCCTGCTGGAGG	0.438													G	42355654	C	G	42355654	3	3	58	1	0	0	0	0	1	0	0	0	4591	855	30	5	1024	5	DMRTC2	19	42355654	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	25056893	42355654	16773329	164	43600											
EHD2	30846	broad.mit.edu	37	chr19	48220033	48220033	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccctggaggacgcagactTcgacggcaagcccatggtgc	15	13	0	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr19:48220033T>G	uc002phj.3	+	2	414	c.164T>G	c.(163-165)TTC>TGC	p.F55C	EHD2_uc010xyu.1_Intron	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	55					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GACGCAGACTTCGACGGCAAG	0.672													G	48220033	T	G	48220033	3	3	58	1	0	0	0	0	1	0	0	0	4978	1783	62	5	166	5	EHD2	19	48220033	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08	5864379	48220033	10908950	165	43601											
BCAT2	587	broad.mit.edu	37	chr19	49303355	49303355	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcaactccagcttgtcgaaActctgggtgggattctgaat	11	9	2	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr19:49303355A>T	uc002pkr.2	-	5	451	c.414T>A	c.(412-414)AGT>AGA	p.S138R	BCAT2_uc002pkp.2_Missense_Mutation_p.S98R|BCAT2_uc002pkq.3_Missense_Mutation_p.S98R|BCAT2_uc002pks.2_Missense_Mutation_p.S98R|BCAT2_uc002pkt.2_Missense_Mutation_p.S46R|BCAT2_uc010emh.1_Missense_Mutation_p.S138R|BCAT2_uc010emi.1_Missense_Mutation_p.S46R|BCAT2_uc002pku.1_Missense_Mutation_p.S98R|BCAT2_uc010emj.1_RNA	NM_001190	NP_001181	O15382	BCAT2_HUMAN	branched chain aminotransferase 2, mitochondrial	138						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			ovary(1)	1		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	GCTTGTCGAAACTCTGGGTGG	0.672													T	49303355	A	T	49303355	3	4	58	1	0	0	0	0	1	0	0	0	1355	40	2	5	792	5	BCAT2	19	49303355	Missense_Mutation	SNP	A	TCGA-BR-7958-01A-21D-2340-08	1083322	49303355	9825628	166	43602											
PRMT1	3276	broad.mit.edu	37	chr19	50191446	50191446	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tggacttcaccatcgacctgGacttcaagggccagctgtgc	11	13	2	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr19:50191446G>C	uc010enf.1	+	11	1102	c.1060G>C	c.(1060-1062)GAC>CAC	p.D354H	CPT1C_uc002ppl.3_5'Flank|CPT1C_uc002ppi.2_5'Flank|CPT1C_uc002ppk.2_5'Flank|CPT1C_uc010eng.2_5'Flank|CPT1C_uc010enh.2_5'Flank|CPT1C_uc002ppj.2_5'Flank|PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Missense_Mutation_p.D330H|PRMT1_uc002ppe.2_Missense_Mutation_p.D336H|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Missense_Mutation_p.D301H|PRMT1_uc010ybb.1_RNA|C19orf76_uc002pph.2_5'Flank	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	HMT1 hnRNP methyltransferase-like 2 isoform 1	335						cytoplasm	protein methyltransferase activity			ovary(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CATCGACCTGGACTTCAAGGG	0.697													C	50191446	G	C	50191446	3	2	58	1	0	0	0	0	1	0	0	0	12535	1174	41	5	1102	5	PRMT1	19	50191446	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	888091	50191446	8937537	167	43603											
LRRC4B	94030	broad.mit.edu	37	chr19	51021627	51021627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgagacgttgagcgtggccGaggcggtggtgttgccggct	19	10	0	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr19:51021627G>A	uc002pss.2	-	3	1480	c.1343C>T	c.(1342-1344)TCG>TTG	p.S448L		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	448	Extracellular (Potential).|Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GAGCGTGGCCGAGGCGGTGGT	0.423													A	51021627	G	A	51021627	3	1	58	1	0	0	0	0	1	0	0	0	9007	1059	37	1	802	1	LRRC4B	19	51021627	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	830181	51021627	8107356	168	43604											
NLRP12	91662	broad.mit.edu	37	chr19	54304558	54304558	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgaggtcccccagctcattCaggctcaggtccagctctct	9	17	4	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr19:54304558C>T	uc002qch.3	-	7	2899	c.2679G>A	c.(2677-2679)CTG>CTA	p.L893L	NLRP12_uc010eqw.2_Silent_p.L176L|NLRP12_uc002qci.3_Silent_p.L893L|NLRP12_uc002qcj.3_Silent_p.L894L|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	893	LRR 3.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCAGCTCATTCAGGCTCAGGT	0.622													T	54304558	C	T	54304558	2	4	58	1	0	0	0	0	0	0	0	1	10474	813	29	4		4	NLRP12	19	54304558	Silent	SNP	C	TCGA-BR-7958-01A-21D-2340-08	3282931	54304558	4824425	169	43605											
SNX21	90203	broad.mit.edu	37	chr20	44469462	44469462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgcagagaccattgcccGccgtagccgggcctttgagc	12	14	0	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr20:44469462G>A	uc002xpv.1	+	4	721	c.632G>A	c.(631-633)CGC>CAC	p.R211H	SNX21_uc002xps.1_Intron|SNX21_uc002xpt.1_3'UTR|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_Missense_Mutation_p.R22H|SNX21_uc002xpx.2_Missense_Mutation_p.R201H|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_Missense_Mutation_p.R22H|SNX21_uc002xpz.1_Missense_Mutation_p.R22H	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	sorting nexin 21 isoform a	211	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				ACCATTGCCCGCCGTAGCCGG	0.637													A	44469462	G	A	44469462	3	1	58	1	0	0	0	0	1	0	0	0	14893	1087	38	1	661	1	SNX21	20	44469462	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08		44469462	18556058	170	43606											
CASS4	57091	broad.mit.edu	37	chr20	55027211	55027211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttcctttggatgaagatGtcagctacaaggttccttca	8	9	2	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr20:55027211G>A	uc002xxp.2	+	6	1204	c.979G>A	c.(979-981)GTC>ATC	p.V327I	CASS4_uc002xxq.3_Missense_Mutation_p.V327I|CASS4_uc002xxr.2_Missense_Mutation_p.V327I|CASS4_uc010zze.1_Missense_Mutation_p.V273I|CASS4_uc010gio.2_Intron	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	327					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						GGATGAAGATGTCAGCTACAA	0.438													A	55027211	G	A	55027211	3	1	58	1	0	0	0	0	1	0	0	0	2683	1377	48	4	997	4	CASS4	20	55027211	Missense_Mutation	SNP	G	TCGA-BR-7958-01A-21D-2340-08	10557749	55027211	7998309	171	43607											
NPEPL1	79716	broad.mit.edu	37	chr20	57273760	57273760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttagcgaatgccacagaCggcgtgcggctagcagcccg	14	13	0	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr20:57273760C>T	uc010zzs.1	+	4	623	c.528C>T	c.(526-528)GAC>GAT	p.D176D	NPEPL1_uc010zzr.1_Silent_p.D128D|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Silent_p.D148D|NPEPL1_uc002xzp.2_Silent_p.D64D	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	176					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity				0	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			ATGCCACAGACGGCGTGCGGC	0.602													T	57273760	C	T	57273760	2	4	58	1	0	0	0	0	0	0	0	1	10574	535	19	1		1	NPEPL1	20	57273760	Silent	SNP	C	TCGA-BR-7958-01A-21D-2340-08	2246549	57273760	5751760	172	43608											
GNAS	2778	broad.mit.edu	37	chr20	57429490	57429490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcagcctcagcggatacCgctgccagggcagcccctgc	15	16	1	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr20:57429490C>T	uc002xzw.2	+	1	1455	c.1170C>T	c.(1168-1170)ACC>ACT	p.T390T	GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CAGCGGATACCGCTGCCAGGG	0.687			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			T	57429490	C	T	57429490	2	4	58	1	0	0	0	0	0	0	0	1	6510	652	23	1		1	GNAS	20	57429490	Silent	SNP	C	TCGA-BR-7958-01A-21D-2340-08	155730	57429490	5596030	173	43609											
KRTAP10-4	386672	broad.mit.edu	37	chr21	45993856	45993856	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccagtgacctgcgagcCcagcccctgccaatcaggct	10	18	1	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr21:45993856C>G	uc002zfk.1	+	1	251	c.221C>G	c.(220-222)CCC>CGC	p.P74R	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	keratin associated protein 10-4	74	36 X 5 AA repeats of C-C-X(3).					keratin filament					0						ACCTGCGAGCCCAGCCCCTGC	0.711													G	45993856	C	G	45993856	3	3	58	1	0	0	0	0	1	0	0	0	8511	623	22	5	223	5	KRTAP10-4	21	45993856	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08		45993856	2136039	174	43610											
CSF2RB	1439	broad.mit.edu	37	chr22	37334402	37334402	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtcctgagatcaagaaccTagaccaggcttttcaagtca	9	11	3	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr22:37334402T>C	uc003aqa.3	+	14	2769	c.2552T>C	c.(2551-2553)CTA>CCA	p.L851P	CSF2RB_uc003aqc.3_Missense_Mutation_p.L857P	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	851	Cytoplasmic (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	ATCAAGAACCTAGACCAGGCT	0.612													C	37334402	T	C	37334402	3	2	58	1	0	0	0	0	1	0	0	0	3935	1522	53	3	2602	3	CSF2RB	22	37334402	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08		37334402	13970164	175	43611											
SREBF2	6721	broad.mit.edu	37	chr22	42264622	42264622	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttctcccaagtccttcaGcctcaagtccaaagcctggt	6	16	4	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr22:42264622G>A	uc003bbi.2	+	3	715	c.546G>A	c.(544-546)CAG>CAA	p.Q182Q	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_5'Flank	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	182	Cytoplasmic (Potential).|Gln-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4						AAGTCCTTCAGCCTCAAGTCC	0.537													A	42264622	G	A	42264622	2	1	58	1	0	0	0	0	0	0	0	1	15141	962	34	2		2	SREBF2	22	42264622	Silent	SNP	G	TCGA-BR-7958-01A-21D-2340-08	4930220	42264622	9039944	176	43612											
TUBGCP6	85378	broad.mit.edu	37	chr22	50659280	50659280	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacacagactcccccaagcTgatgctggcatcggacacgt	10	14	0	3			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr22:50659280T>C	uc003bkb.1	-	16	4020	c.3508A>G	c.(3508-3510)AGC>GGC	p.S1170G	TUBGCP6_uc003bka.1_Missense_Mutation_p.S257G|TUBGCP6_uc010har.1_Missense_Mutation_p.S1162G|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1170	9 X 27 AA tandem repeats.|6.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCCCCCAAGCTGATGCTGGCA	0.637													C	50659280	T	C	50659280	3	2	58	1	0	0	0	0	1	0	0	0	16767	1580	55	3	1991	3	TUBGCP6	22	50659280	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08	8394658	50659280	645286	177	43613											
DMD	1756	broad.mit.edu	37	chrX	32867866	32867866	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtttttgccctgtcaggccTtcgaggaggtctaggaggcg	15	9	2	0			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chrX:32867866T>A	uc004dda.1	-	3	409	c.165A>T	c.(163-165)GAA>GAT	p.E55D	DMD_uc004dcz.2_Translation_Start_Site|DMD_uc004dcy.1_Missense_Mutation_p.E51D|DMD_uc004ddb.1_Missense_Mutation_p.E47D|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.E47D|DMD_uc010ngq.1_RNA|DMD_uc010ngr.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	55	CH 1.|Actin-binding.		Missing (in BMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGTCAGGCCTTCGAGGAGGT	0.378													A	32867866	T	A	32867866	3	1	58	1	0	0	0	0	1	0	0	0	4580	1606	56	5	11443	5	DMD	23	32867866	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08		32867866	122402694	178	43614											
ACRC	93953	broad.mit.edu	37	chrX	70823607	70823607	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgattcggaagctcctgaCgacaacagtgatgattcgga	12	8	0	4			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chrX:70823607C>T	uc004eae.2	+	8	981	c.480C>T	c.(478-480)GAC>GAT	p.D160D	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	160	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					AAGCTCCTGACGACAACAGTG	0.493													T	70823607	C	T	70823607	2	4	58	1	0	0	0	0	0	0	0	1	171	535	19	1		1	ACRC	23	70823607	Silent	SNP	C	TCGA-BR-7958-01A-21D-2340-08	37955741	70823607	84446953	179	43615											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913793	77913793	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actccttggctgcttgggacTtctgaagctctgggatctgg	13	10	3	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chrX:77913793T>G	uc004edc.1	-	2	421	c.125A>C	c.(124-126)AAG>ACG	p.K42T		NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	42							nucleic acid binding|zinc ion binding			ovary(1)	1						TGCTTGGGACTTCTGAAGCTC	0.527													G	77913793	T	G	77913793	3	3	58	1	0	0	0	0	1	0	0	0	17588	1609	56	5	1306	5	ZCCHC5	23	77913793	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08	7090186	77913793	77356767	180	43616											
TBC1D8B	54885	broad.mit.edu	37	chrX	106110048	106110048	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataatgtacaatggaagttTtactgagaagcttaagctgc	9	6	0	1			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chrX:106110048T>C	uc004emo.2	+	17	2849	c.2684T>C	c.(2683-2685)TTT>TCT	p.F895S	MORC4_uc004emp.3_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	895						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4						AATGGAAGTTTTACTGAGAAG	0.299													C	106110048	T	C	106110048	3	2	58	1	0	0	0	0	1	0	0	0	15623	1841	64	3	2816	3	TBC1D8B	23	106110048	Missense_Mutation	SNP	T	TCGA-BR-7958-01A-21D-2340-08	28196255	106110048	49160512	181	43617											
TRPC5	7224	broad.mit.edu	37	chrX	111155847	111155847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtcgggagcgagagtggCgcaggctgtctacctctgaa	15	10	3	2			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chrX:111155847C>T	uc004epl.1	-	3	1491	c.572G>A	c.(571-573)CGC>CAC	p.R191H	TRPC5_uc004epm.1_Missense_Mutation_p.R191H	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	191	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						GCGAGAGTGGCGCAGGCTGTC	0.547													T	111155847	C	T	111155847	3	4	58	1	0	0	0	0	1	0	0	0	16579	768	27	1	2385	1	TRPC5	23	111155847	Missense_Mutation	SNP	C	TCGA-BR-7958-01A-21D-2340-08	5045799	111155847	44114713	182	43618											
RUNX3	864	broad.mit.edu	37	chr1	25256279	25256281	+	In_Frame_Del	DEL	GCC	GCC	-													ccgctgttctcgcccatcttGccgccgccgccgccgcaggg							TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr1:25256279_25256281delGCC	uc001bjq.2	-	1	490_492	c.79_81delGGC	c.(79-81)GGCdel	p.G27del	RUNX3_uc010oen.1_In_Frame_Del_p.G27del|RUNX3_uc009vrj.2_In_Frame_Del_p.G41del|RUNX3_uc001bjr.2_In_Frame_Del_p.G41del|RUNX3_uc009vrk.2_In_Frame_Del_p.G41del|RUNX3_uc009vrl.1_In_Frame_Del_p.G41del	NM_004350	NP_004341	Q13761	RUNX3_HUMAN	runt-related transcription factor 3 isoform 2	27	Poly-Gly.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CGCCCATCTTGCCGCCGCCGCCG	0.596													-	25256281	GCC	-	25256279	7	5	59	1	0	1	0	1	0	0	0	0	13749	1306	46	0	1186	0	RUNX3	1	25256279	In_Frame_Del	DEL	GCC	TCGA-BR-7959-01A-11D-2340-08		25256279	223994342	1	43619											
CSF3R	1441	broad.mit.edu	37	chr1	36939177	36939177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgcccgtccttgggcaCgcagtccaggatggagtccc	13	15	1	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr1:36939177C>T	uc001caw.1	-	6	710	c.532G>A	c.(532-534)GTG>ATG	p.V178M	CSF3R_uc009vvc.1_5'Flank|CSF3R_uc001cau.1_5'Flank|CSF3R_uc001cav.1_Missense_Mutation_p.V178M|CSF3R_uc001cax.1_Missense_Mutation_p.V178M|CSF3R_uc001cay.1_Missense_Mutation_p.V178M	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	178	Fibronectin type-III 1.|Extracellular (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCCTTGGGCACGCAGTCCAGG	0.607													T	36939177	C	T	36939177	3	4	59	1	0	0	0	0	1	0	0	0	3937	536	19	1	2216	1	CSF3R	1	36939177	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	11682898	36939177	212311444	2	43620											
UBAP2L	9898	broad.mit.edu	37	chr1	154233469	154233469	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagactcaccataccacgCagcagacattcctgaacccg	7	17	1	3			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr1:154233469C>T	uc001fep.3	+	23	2847	c.2680C>T	c.(2680-2682)CAG>TAG	p.Q894*	UBAP2L_uc009wot.2_Nonsense_Mutation_p.Q894*|UBAP2L_uc010pek.1_Nonsense_Mutation_p.Q886*|UBAP2L_uc010pel.1_Nonsense_Mutation_p.Q904*|UBAP2L_uc010pen.1_Nonsense_Mutation_p.Q808*|UBAP2L_uc001feq.2_Nonsense_Mutation_p.Q90*|UBAP2L_uc001fer.2_Nonsense_Mutation_p.Q90*	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	894					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCATACCACGCAGCAGACATT	0.622													T	154233469	C	T	154233469	4	4	59	1	0	0	0	0	0	1	0	0	16835	711	25	2	2766	2	UBAP2L	1	154233469	Nonsense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	117294292	154233469	95017152	3	43621											
NEK7	140609	broad.mit.edu	37	chr1	198247156	198247156	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtattttgttcagctttgCagtgcattggaacacatgca	9	7	1	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr1:198247156C>T	uc001gun.3	+	6	765	c.438C>T	c.(436-438)TGC>TGT	p.C146C		NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	146	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|lung(1)|ovary(1)	4						TTCAGCTTTGCAGTGCATTGG	0.294													T	198247156	C	T	198247156	2	4	59	1	0	0	0	0	0	0	0	1	10329	718	25	2		2	NEK7	1	198247156	Silent	SNP	C	TCGA-BR-7959-01A-11D-2340-08	44013687	198247156	51003465	4	43622											
OR13G1	441933	broad.mit.edu	37	chr1	247835548	247835548	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agctaccaccttgtctctttCaaatgtatagctggaagcag	8	10	2	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr1:247835548C>T	uc001idi.1	-	1	796	c.796G>A	c.(796-798)GAA>AAA	p.E266K		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	266	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTGTCTCTTTCAAATGTATAG	0.463													T	247835548	C	T	247835548	3	4	59	1	0	0	0	0	1	0	0	0	10942	835	29	4	131	4	OR13G1	1	247835548	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	49588392	247835548	1415073	5	43623											
ZNF512	84450	broad.mit.edu	37	chr2	27830727	27830727	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcagatatccttctttccaGagtcaggacagccagagtgc	10	11	2	3			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr2:27830727G>A	uc002rla.2	+	10	1039	c.952G>A	c.(952-954)GAG>AAG	p.E318K	ZNF512_uc010ylv.1_Missense_Mutation_p.E239K|ZNF512_uc010ylw.1_Missense_Mutation_p.E289K|ZNF512_uc002rlb.2_Missense_Mutation_p.E239K|ZNF512_uc010ylx.1_Missense_Mutation_p.E239K|ZNF512_uc002rlc.2_Missense_Mutation_p.E239K|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_Missense_Mutation_p.E211K	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	zinc finger protein 512	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					CTTCTTTCCAGAGTCAGGACA	0.483													A	27830727	G	A	27830727	3	1	59	1	0	0	0	0	1	0	0	0	17953	943	33	4	990	4	ZNF512	2	27830727	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08		27830727	215368646	6	43624											
HAAO	23498	broad.mit.edu	37	chr2	42994786	42994786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggccaggctcaggcgcCgtccccccattgtcaccacc	11	19	2	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr2:42994786C>T	uc002rst.3	-	9	806	c.731G>A	c.(730-732)CGG>CAG	p.R244Q		NM_012205	NP_036337	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	244	Domain B (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding			ovary(1)	1						GCTCAGGCGCCGTCCCCCCAT	0.612													T	42994786	C	T	42994786	3	4	59	1	0	0	0	0	1	0	0	0	6937	652	23	1	137	1	HAAO	2	42994786	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	15164059	42994786	200204587	7	43625											
MSH6	2956	broad.mit.edu	37	chr2	48025928	48025928	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtggaatttaagccagacaCtaaggaggaaggaagcagtg	14	5	0	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr2:48025928C>G	uc002rwd.3	+	4	958	c.806C>G	c.(805-807)ACT>AGT	p.T269S	MSH6_uc002rwc.2_Missense_Mutation_p.T269S|MSH6_uc010fbj.2_5'UTR|MSH6_uc010yoi.1_Missense_Mutation_p.T139S|MSH6_uc010yoj.1_5'UTR	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	269					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAGCCAGACACTAAGGAGGAA	0.473			Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				G	48025928	C	G	48025928	3	3	59	1	0	0	0	0	1	0	0	0	9874	565	20	5	820	5	MSH6	2	48025928	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	5031142	48025928	195173445	8	43626											
ETAA1	54465	broad.mit.edu	37	chr2	67631007	67631007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgctatgcaaaatatcgAcatgcctgaactctttcctt	5	10	1	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr2:67631007A>G	uc002sdz.1	+	5	1332	c.1193A>G	c.(1192-1194)GAC>GGC	p.D398G		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	ETAA16 protein	398						cytoplasm|nucleus				ovary(3)|large_intestine(1)	4						CAAAATATCGACATGCCTGAA	0.328													G	67631007	A	G	67631007	3	3	59	1	0	0	0	0	1	0	0	0	5267	275	10	3	1211	3	ETAA1	2	67631007	Missense_Mutation	SNP	A	TCGA-BR-7959-01A-11D-2340-08	19605079	67631007	175568366	9	43627											
THSD7B	80731	broad.mit.edu	37	chr2	137852589	137852589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatttaggagcaggagccGgaacgtgaagcacatggcta	15	7	0	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr2:137852589G>A	uc002tva.1	+	3	1004	c.1004G>A	c.(1003-1005)CGG>CAG	p.R335Q	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.R225Q	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGCAGGAGCCGGAACGTGAAG	0.537													A	137852589	G	A	137852589	3	1	59	1	0	0	0	0	1	0	0	0	15877	1116	39	1	1014	1	THSD7B	2	137852589	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	70221582	137852589	105346784	10	43628											
LRP1B	53353	broad.mit.edu	37	chr2	141607766	141607766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtataaacgttcctcagatGcatcgaagtctatcacagta	7	9	3	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr2:141607766G>A	uc002tvj.1	-	29	5816	c.4844C>T	c.(4843-4845)GCA>GTA	p.A1615V	LRP1B_uc010fnl.1_Missense_Mutation_p.A797V	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1615	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCTCAGATGCATCGAAGTC	0.363										TSP Lung(27;0.18)			A	141607766	G	A	141607766	3	1	59	1	0	0	0	0	1	0	0	0	8955	1319	46	2	9207	2	LRP1B	2	141607766	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	3755177	141607766	101591607	11	43629											
SCN2A	6326	broad.mit.edu	37	chr2	166172057	166172057	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggagttttttcagagagttCttcagtagcatctaagttga	10	5	4	2			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr2:166172057C>T	uc002udc.2	+	11	1750	c.1460C>T	c.(1459-1461)TCT>TTT	p.S487F	SCN2A_uc002udd.2_Missense_Mutation_p.S487F|SCN2A_uc002ude.2_Missense_Mutation_p.S487F	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	487					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	TCAGAGAGTTCTTCAGTAGCA	0.348													T	166172057	C	T	166172057	3	4	59	1	0	0	0	0	1	0	0	0	13916	913	32	4	1594	4	SCN2A	2	166172057	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	24564291	166172057	77027316	12	43630											
KLHL23	151230	broad.mit.edu	37	chr2	170598014	170598014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctacaattccgatatcaacGaatggagcctcatcacctcc	6	14	3	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr2:170598014G>A	uc002ufh.1	+	5	1671	c.1333G>A	c.(1333-1335)GAA>AAA	p.E445K	KLHL23_uc002ufi.1_Missense_Mutation_p.E445K	NM_144711	NP_653312	Q8NBE8	KLH23_HUMAN	kelch-like 23	445	Kelch 4.										0						CGATATCAACGAATGGAGCCT	0.423													A	170598014	G	A	170598014	3	1	59	1	0	0	0	0	1	0	0	0	8378	1059	37	1	1339	1	KLHL23	2	170598014	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	4425957	170598014	72601359	13	43631											
ERBB4	2066	broad.mit.edu	37	chr2	213403321	213403321	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatatccccctttcgggcaCgcggaggagatcccccagcc	11	17	0	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr2:213403321C>T	uc002veg.1	-	1	32	c.-66G>A	c.(-68--64)GCGTG>GCATG		ERBB4_uc002veh.1_Translation_Start_Site|ERBB4_uc010zji.1_Translation_Start_Site|ERBB4_uc010zjj.1_Translation_Start_Site|ERBB4_uc010fut.1_Translation_Start_Site	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene						cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTTTCGGGCACGCGGAGGAGA	0.458										TSP Lung(8;0.080)			T	213403321	C	T	213403321	1	4	59	1	0	0	0	0	0	0	0	0	5209	551	19	1		1	ERBB4	2	213403321	Translation_Start_Site	SNP	C	TCGA-BR-7959-01A-11D-2340-08	42805307	213403321	29796052	14	43632											
OBSL1	23363	broad.mit.edu	37	chr2	220432115	220432115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccggcacctccacggctcCggctttctcgatgctgaagc	11	17	1	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr2:220432115C>T	uc010fwk.2	-	4	1774	c.1717G>A	c.(1717-1719)GGA>AGA	p.G573R	OBSL1_uc010fwl.1_Missense_Mutation_p.G48R|OBSL1_uc002vmi.2_Missense_Mutation_p.G573R|OBSL1_uc002vmj.2_Missense_Mutation_p.G160R	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	573	Fibronectin type-III.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TCCACGGCTCCGGCTTTCTCG	0.637													T	220432115	C	T	220432115	3	4	59	1	0	0	0	0	1	0	0	0	10813	661	23	1	4197	1	OBSL1	2	220432115	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	7028794	220432115	22767258	15	43633											
GIGYF2	26058	broad.mit.edu	37	chr2	233712181	233712181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcagttccttgagcgccGtgccaaacagaaagccaacc	9	14	0	2			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr2:233712181G>A	uc002vti.3	+	29	3921	c.3584G>A	c.(3583-3585)CGT>CAT	p.R1195H	GIGYF2_uc002vtj.3_Missense_Mutation_p.R1216H|GIGYF2_uc002vtk.3_Missense_Mutation_p.R1195H|GIGYF2_uc002vth.3_Missense_Mutation_p.R1189H|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc002vtq.3_Missense_Mutation_p.R528H	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	1195					cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CTTGAGCGCCGTGCCAAACAG	0.274													A	233712181	G	A	233712181	3	1	59	1	0	0	0	0	1	0	0	0	6378	1145	40	1	3752	1	GIGYF2	2	233712181	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	13280066	233712181	9487192	16	43634											
ZNF35	7584	broad.mit.edu	37	chr3	44700257	44700257	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatgtgaggaagctgaaaaAcccctcatcatatcagaaag	8	8	3	3			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr3:44700257A>C	uc003cnq.2	+	4	623	c.402A>C	c.(400-402)AAA>AAC	p.K134N	ZNF35_uc003cnr.2_5'UTR	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	134	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		AAGCTGAAAAACCCCTCATCA	0.393													C	44700257	A	C	44700257	3	2	59	1	0	0	0	0	1	0	0	0	17859	40	2	5	412	5	ZNF35	3	44700257	Missense_Mutation	SNP	A	TCGA-BR-7959-01A-11D-2340-08		44700257	153322173	17	43635											
GLYCTK	132158	broad.mit.edu	37	chr3	52327139	52327139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgttcctgcggcctcgGtgatggcataggtcacattt	11	11	2	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr3:52327139G>A	uc003ddo.2	+	5	1665	c.1569G>A	c.(1567-1569)CGG>CGA	p.R523R	GLYCTK_uc003ddm.2_RNA|GLYCTK_uc003ddn.2_RNA|GLYCTK_uc003ddp.1_Missense_Mutation_p.V365M|GLYCTK_uc003ddr.2_Silent_p.R187R	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	glycerate kinase isoform 1	523					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		TGCGGCCTCGGTGATGGCATA	0.567													A	52327139	G	A	52327139	2	1	59	1	0	0	0	0	0	0	0	1	6482	1248	44	4		4	GLYCTK	3	52327139	Silent	SNP	G	TCGA-BR-7959-01A-11D-2340-08	7626882	52327139	145695291	18	43636											
EVC	2121	broad.mit.edu	37	chr4	5754776	5754776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggcagagcgcttcagcCggggtgagccgtgggcatgg	20	9	1	2			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr4:5754776C>T	uc003gil.1	+	9	1496	c.1312C>T	c.(1312-1314)CGG>TGG	p.R438W	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	438					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				GCGCTTCAGCCGGGGTGAGCC	0.692													T	5754776	C	T	5754776	3	4	59	1	0	0	0	0	1	0	0	0	5285	643	23	1	1346	1	EVC	4	5754776	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08		5754776	185399500	19	43637											
TMPRSS11A	339967	broad.mit.edu	37	chr4	68780427	68780427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgattttcactctggcttctCggagatcattttgggattcc	9	9	4	2	rs150048717	byFrequency	TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr4:68780427C>T	uc003hdr.1	-	9	1104	c.983G>A	c.(982-984)CGA>CAA	p.R328Q	LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.R325Q	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A isoform 1	328	Peptidase S1.|Extracellular (Potential).				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			skin(1)	1						TCTGGCTTCTCGGAGATCATT	0.388													T	68780427	C	T	68780427	3	4	59	1	0	0	0	0	1	0	0	0	16236	884	31	1	290	1	TMPRSS11A	4	68780427	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	63025651	68780427	122373849	20	43638											
C4orf37	285555	broad.mit.edu	37	chr4	98893457	98893457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagcaggtccaggggtagCacaagcttctttctgaaccg	11	11	3	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr4:98893457C>T	uc003htt.1	-	7	997	c.907G>A	c.(907-909)GCT>ACT	p.A303T		NM_174952	NP_777612	Q8N412	CD037_HUMAN	hypothetical protein LOC285555	303											0				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		CCAGGGGTAGCACAAGCTTCT	0.363													T	98893457	C	T	98893457	3	4	59	1	0	0	0	0	1	0	0	0	2267	710	25	2	492	2	C4orf37	4	98893457	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	30113030	98893457	92260819	21	43639											
TRIO	7204	broad.mit.edu	37	chr5	14387669	14387669	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gataagaggtacagagatttCtctctgcggatggagaagta	13	5	2	3			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr5:14387669C>A	uc003jff.2	+	22	3699	c.3693C>A	c.(3691-3693)TTC>TTA	p.F1231L	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.F1182L|TRIO_uc003jfh.1_Missense_Mutation_p.F880L	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1231					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					ACAGAGATTTCTCTCTGCGGA	0.433													A	14387669	C	A	14387669	3	1	59	1	0	0	0	0	1	0	0	0	16549	912	32	5	3779	5	TRIO	5	14387669	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08		14387669	166527591	22	43640											
PCDHB15	56121	broad.mit.edu	37	chr5	140625810	140625810	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacggtggctctccacccCgatctggcaccgtccagatc	11	16	2	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr5:140625810C>T	uc003lje.2	+	1	664	c.664C>T	c.(664-666)CGA>TGA	p.R222*		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	222	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCTCCACCCCGATCTGGCAC	0.592													T	140625810	C	T	140625810	4	4	59	1	0	0	0	0	0	1	0	0	11540	644	23	1	666	1	PCDHB15	5	140625810	Nonsense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	126238141	140625810	40289450	23	43641											
LRFN2	57497	broad.mit.edu	37	chr6	40400252	40400252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggaggtgagatccaggcGggccagtttctgcaggtctg	16	8	2	1	rs139033638		TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr6:40400252G>A	uc003oph.1	-	2	1066	c.601C>T	c.(601-603)CGC>TGC	p.R201C		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	201	LRR 7.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGATCCAGGCGGGCCAGTTTC	0.627													A	40400252	G	A	40400252	3	1	59	1	0	0	0	0	1	0	0	0	8938	1116	39	1	1776	1	LRFN2	6	40400252	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08		40400252	130714815	24	43642											
MDN1	23195	broad.mit.edu	37	chr6	90368581	90368581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcggtctctcctctttcCtcagcttcatgacctgcttc	6	16	5	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr6:90368581C>T	uc003pnn.1	-	89	14885	c.14769G>A	c.(14767-14769)GAG>GAA	p.E4923E		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4923					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCCTCTTTCCTCAGCTTCAT	0.463													T	90368581	C	T	90368581	2	4	59	1	0	0	0	0	0	0	0	1	9415	680	24	4		4	MDN1	6	90368581	Silent	SNP	C	TCGA-BR-7959-01A-11D-2340-08	49968329	90368581	80746486	25	43643											
POM121L12	285877	broad.mit.edu	37	chr7	53103739	53103739	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgaaaggggggctgtgTcgtgcctggaacccaggacg	17	9	0	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr7:53103739T>A	uc003tpz.2	+	1	391	c.375T>A	c.(373-375)TGT>TGA	p.C125*		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	125											0						GGGGGCTGTGTCGTGCCTGGA	0.677													A	53103739	T	A	53103739	4	1	59	1	0	0	0	0	0	1	0	0	12241	1673	58	5	377	5	POM121L12	7	53103739	Nonsense_Mutation	SNP	T	TCGA-BR-7959-01A-11D-2340-08		53103739	106034924	26	43644											
MOGAT3	346606	broad.mit.edu	37	chr7	100839531	100839531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtggctgagaagagaccgcGaccccagaagatgcaaggag	16	9	0	4			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr7:100839531G>A	uc003uyc.2	-	6	975	c.808C>T	c.(808-810)CGC>TGC	p.R270C	MOGAT3_uc010lhr.2_Intron	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	270					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			ovary(2)	2	Lung NSC(181;0.168)|all_lung(186;0.215)					AAGAGACCGCGACCCCAGAAG	0.607													A	100839531	G	A	100839531	3	1	59	1	0	0	0	0	1	0	0	0	9696	1058	37	1	225	1	MOGAT3	7	100839531	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	47735792	100839531	58299132	27	43645											
ZC3HC1	51530	broad.mit.edu	37	chr7	129663367	129663367	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcaccgaactgctggaggagCagaggcgagctcgcttggct	15	11	1	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr7:129663367C>G	uc003vpi.2	-	8	1244	c.1217G>C	c.(1216-1218)TGC>TCC	p.C406S	ZC3HC1_uc003vph.2_Missense_Mutation_p.C250S|ZC3HC1_uc010lma.2_Intron	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	zinc finger, C3HC type 1	406					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding				0	Melanoma(18;0.0435)					GCTGGAGGAGCAGAGGCGAGC	0.602													G	129663367	C	G	129663367	3	3	59	1	0	0	0	0	1	0	0	0	17574	710	25	5	303	5	ZC3HC1	7	129663367	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	28823836	129663367	29475296	28	43646											
ATP6V0E2	155066	broad.mit.edu	37	chr7	149576436	149576436	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cttttcaggtgcccagctctCggaatgactgtggctccact	10	13	2	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr7:149576436C>G	uc003wgr.2	+	4	1332	c.381C>G	c.(379-381)CTC>CTG	p.L127L	ATP6V0E2_uc003wgs.2_Silent_p.L104L|ATP6V0E2_uc003wgp.2_3'UTR|ATP6V0E2_uc003wgq.2_RNA|uc003wgt.1_5'Flank	NM_145230	NP_660265	Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting, V0 subunit isoform 1	Error:Variant_position_missing_in_Q8NHE4_after_alignment					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			GCCCAGCTCTCGGAATGACTG	0.627													G	149576436	C	G	149576436	2	3	59	1	0	0	0	0	0	0	0	1	1176	871	31	5		5	ATP6V0E2	7	149576436	Silent	SNP	C	TCGA-BR-7959-01A-11D-2340-08	19913069	149576436	9562227	29	43647											
MSR1	4481	broad.mit.edu	37	chr8	15978102	15978102	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaccgaccagtcgaacTttcgtaaatggagctgtaaa	8	12	0	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr8:15978102T>G	uc003wwz.2	-	9	1245	c.1047A>C	c.(1045-1047)AAA>AAC	p.K349N	MSR1_uc010lsu.2_Missense_Mutation_p.K367N|MSR1_uc003wxa.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	349	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)		CCAGTCGAACTTTCGTAAATG	0.443													G	15978102	T	G	15978102	3	3	59	1	0	0	0	0	1	0	0	0	9886	1606	56	5	316	5	MSR1	8	15978102	Missense_Mutation	SNP	T	TCGA-BR-7959-01A-11D-2340-08		15978102	130385920	30	43648											
SFRP1	6422	broad.mit.edu	37	chr8	41161050	41161050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcacagggaggacacacCgttgtgcctgggaaaggaag	15	8	1	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr8:41161050C>T	uc003xnt.2	-	2	854	c.552G>A	c.(550-552)ACG>ACA	p.T184T		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1 precursor	184					brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			GAGGACACACCGTTGTGCCTG	0.532													T	41161050	C	T	41161050	2	4	59	1	0	0	0	0	0	0	0	1	14161	639	23	1		1	SFRP1	8	41161050	Silent	SNP	C	TCGA-BR-7959-01A-11D-2340-08	25182948	41161050	105202972	31	43649											
ANK1	286	broad.mit.edu	37	chr8	41547824	41547824	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttcatcgccttgcgcagaAacgacagggaccctcccggc	10	16	1	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr8:41547824A>G	uc003xok.2	-	33	4109	c.4025T>C	c.(4024-4026)TTT>TCT	p.F1342S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.F658S|ANK1_uc003xoi.2_Missense_Mutation_p.F1342S|ANK1_uc003xoj.2_Missense_Mutation_p.F1342S|ANK1_uc003xol.2_Missense_Mutation_p.F1342S|ANK1_uc003xom.2_Missense_Mutation_p.F1383S	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1342					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTTGCGCAGAAACGACAGGGA	0.597													G	41547824	A	G	41547824	3	3	59	1	0	0	0	0	1	0	0	0	620	14	1	3	1986	3	ANK1	8	41547824	Missense_Mutation	SNP	A	TCGA-BR-7959-01A-11D-2340-08	386774	41547824	104816198	32	43650											
MATN2	4147	broad.mit.edu	37	chr8	98973669	98973669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccatggaggaccacaactGtgagcagctctgtgtgaatg	13	9	1	2			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr8:98973669G>A	uc003yic.2	+	5	1100	c.869G>A	c.(868-870)TGT>TAT	p.C290Y	MATN2_uc003yib.1_Missense_Mutation_p.C290Y|MATN2_uc010mbh.1_Missense_Mutation_p.C290Y|MATN2_uc003yid.2_Missense_Mutation_p.C290Y|MATN2_uc003yie.1_Missense_Mutation_p.C290Y|MATN2_uc010mbi.1_Intron	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	290	EGF-like 2.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GACCACAACTGTGAGCAGCTC	0.577													A	98973669	G	A	98973669	3	1	59	1	0	0	0	0	1	0	0	0	9334	1377	48	4	883	4	MATN2	8	98973669	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	57425845	98973669	47390353	33	43651											
RIMS2	9699	broad.mit.edu	37	chr8	104940099	104940099	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttagtagaagaacaacgccTtttgttcctagggttcaggt	10	8	1	2			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr8:104940099T>G	uc003yls.2	+	9	1801	c.1560T>G	c.(1558-1560)CCT>CCG	p.P520P	RIMS2_uc003ylp.2_Silent_p.P742P|RIMS2_uc003ylw.2_Intron|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron|RIMS2_uc003ylt.2_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAACAACGCCTTTTGTTCCTA	0.269										HNSCC(12;0.0054)			G	104940099	T	G	104940099	2	3	59	1	0	0	0	0	0	0	0	1	13368	1596	56	5		5	RIMS2	8	104940099	Silent	SNP	T	TCGA-BR-7959-01A-11D-2340-08	5966430	104940099	41423923	34	43652											
OXR1	55074	broad.mit.edu	37	chr8	107715309	107715309	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggatagcaaaataaaggaatCtttacccatgtaagagtgat	9	5	1	2			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr8:107715309C>T	uc011lht.1	+	7	953	c.854C>T	c.(853-855)TCT>TTT	p.S285F	OXR1_uc003ymf.2_Missense_Mutation_p.S284F|OXR1_uc011lhu.1_Missense_Mutation_p.S277F|OXR1_uc010mcg.2_Intron|OXR1_uc003ymg.1_Missense_Mutation_p.S217F|OXR1_uc003ymi.1_Missense_Mutation_p.S196F	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	285					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			ATAAAGGAATCTTTACCCATG	0.338													T	107715309	C	T	107715309	3	4	59	1	0	0	0	0	1	0	0	0	11334	913	32	4	1080	4	OXR1	8	107715309	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	2775210	107715309	38648713	35	43653											
COL22A1	169044	broad.mit.edu	37	chr8	139697494	139697494	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggtggcccagggagcccaGgagcaccaggatctcccctg	15	15	1	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr8:139697494G>T	uc003yvd.2	-	38	3371	c.2924C>A	c.(2923-2925)CCT>CAT	p.P975H	COL22A1_uc011ljo.1_Missense_Mutation_p.P275H	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	975	Pro-rich.|Gly-rich.|Collagen-like 8.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGGGAGCCCAGGAGCACCAGG	0.582										HNSCC(7;0.00092)			T	139697494	G	T	139697494	3	4	59	1	0	0	0	0	1	0	0	0	3681	1000	35	5	2068	5	COL22A1	8	139697494	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	31982185	139697494	6666528	36	43654											
OPLAH	26873	broad.mit.edu	37	chr8	145111978	145111978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgtgcctcatgcaccaCgtcagccagggccagcccca	9	18	2	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr8:145111978C>T	uc003zar.3	-	12	1661	c.1579G>A	c.(1579-1581)GTG>ATG	p.V527M	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	527							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TCATGCACCACGTCAGCCAGG	0.667													T	145111978	C	T	145111978	3	4	59	1	0	0	0	0	1	0	0	0	10876	536	19	1	2353	1	OPLAH	8	145111978	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	5414484	145111978	1252044	37	43655											
APTX	54840	broad.mit.edu	37	chr9	33001628	33001628	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcaccgcttccggcgctgCgggatgacgtcagaggccgg	15	15	2	2			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr9:33001628C>A	uc003zry.2	-	1	1	c.-65_splice	c.e1-1		APTX_uc003zro.2_5'Flank|APTX_uc003zrp.2_5'Flank|APTX_uc003zrq.2_5'Flank|APTX_uc003zrr.2_5'Flank|APTX_uc003zrs.2_5'Flank|APTX_uc003zrt.2_Splice_Site|APTX_uc003zru.2_Splice_Site|APTX_uc003zrv.2_Splice_Site|APTX_uc003zrw.2_Splice_Site|APTX_uc003zrx.2_Splice_Site|APTX_uc003zrz.2_Intron|APTX_uc003zsb.1_Splice_Site|APTX_uc003zsc.1_Splice_Site	NM_175072	NP_778242	Q7Z2E3	APTX_HUMAN	aprataxin isoform c						cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		TCCGGCGCTGCGGGATGACGT	0.562								Direct_reversal_of_damage|Editing_and_processing_nucleases					A	33001628	C	A	33001628	5	1	59	1	0	0	0	0	0	0	1	0	820	783	27	5		5	APTX	9	33001628	Splice_Site	SNP	C	TCGA-BR-7959-01A-11D-2340-08		33001628	108211803	38	43656											
NOL6	65083	broad.mit.edu	37	chr9	33469280	33469280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagcaagcggcacgggcGgaagaagtcaggtggagggc	20	8	1	1	rs116746143	by1000genomes	TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr9:33469280G>A	uc003zsz.2	-	6	888	c.787C>T	c.(787-789)CGC>TGC	p.R263C	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zta.2_Missense_Mutation_p.R263C|NOL6_uc010mjv.2_Missense_Mutation_p.R263C|NOL6_uc011lob.1_Missense_Mutation_p.R203C|NOL6_uc003ztb.1_Missense_Mutation_p.R263C	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	263					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CGGCACGGGCGGAAGAAGTCA	0.612													A	33469280	G	A	33469280	3	1	59	1	0	0	0	0	1	0	0	0	10525	1116	39	1	2737	1	NOL6	9	33469280	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	467652	33469280	107744151	39	43657											
KIF27	55582	broad.mit.edu	37	chr9	86498933	86498933	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttacagacttggcatcattaCcttaaccgtaataataatta	4	8	1	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr9:86498933C>A	uc004ana.2	-	10	2384	c.2240G>T	c.(2239-2241)GGT>GTT	p.G747V	KIF27_uc010mpw.2_Missense_Mutation_p.G747V|KIF27_uc010mpx.2_Missense_Mutation_p.G747V	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	747	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						GGCATCATTACCTTAACCGta	0.318													A	86498933	C	A	86498933	3	1	59	1	0	0	0	0	1	0	0	0	8296	521	18	5	2001	5	KIF27	9	86498933	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	53029653	86498933	54714498	40	43658											
C9orf3	84909	broad.mit.edu	37	chr9	97718206	97718206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagggctacttccttcttcGgtttcttgccaaaagacttg	8	11	2	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr9:97718206G>A	uc004ava.2	+	8	1916	c.1781G>A	c.(1780-1782)CGG>CAG	p.R594Q	C9orf3_uc004auy.2_Missense_Mutation_p.R495Q|C9orf3_uc004auz.1_Missense_Mutation_p.R495Q|C9orf3_uc004avc.2_Missense_Mutation_p.R49Q	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	594					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TTCCTTCTTCGGTTTCTTGCC	0.368													A	97718206	G	A	97718206	3	1	59	1	0	0	0	0	1	0	0	0	2477	1116	39	1	1506	1	C9orf3	9	97718206	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	11219273	97718206	43495225	41	43659											
CTSL2	1515	broad.mit.edu	37	chr9	99800225	99800225	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catataatcttctgtgtgttGccttccactggtaccacttt	6	11	2	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr9:99800225G>T	uc004awt.2	-	2	298	c.101C>A	c.(100-102)GCA>GAA	p.A34E	CTSL2_uc010msi.2_Missense_Mutation_p.A34E|CTSL2_uc004awu.2_5'UTR|CTSL2_uc010msj.1_5'UTR|CTSL2_uc010msk.2_5'UTR	NM_001333	NP_001324	O60911	CATL2_HUMAN	cathepsin L2 preproprotein	34						lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(62;0.0559)				TCTGTGTGTTGCCTTCCACTG	0.478													T	99800225	G	T	99800225	3	4	59	1	0	0	0	0	1	0	0	0	4039	1319	46	5	931	5	CTSL2	9	99800225	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	2082019	99800225	41413206	42	43660											
PAPPA	5069	broad.mit.edu	37	chr9	118950379	118950379	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtgaagaagcagcacaaCggggtgtgtgacatggactg	15	7	0	3	rs139489198		TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr9:118950379C>T	uc004bjn.2	+	2	1743	c.1362C>T	c.(1360-1362)AAC>AAT	p.N454N	PAPPA_uc011lxp.1_Silent_p.N247N|PAPPA_uc011lxq.1_Silent_p.N247N	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	454	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						AGCAGCACAACGGGGTGTGTG	0.567													T	118950379	C	T	118950379	2	4	59	1	0	0	0	0	0	0	0	1	11432	535	19	1		1	PAPPA	9	118950379	Silent	SNP	C	TCGA-BR-7959-01A-11D-2340-08	19150154	118950379	22263052	43	43661											
ZBTB34	403341	broad.mit.edu	37	chr9	129641763	129641763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgagccagctaaacgaaCtccgcctgcaggggaaacta	10	12	1	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr9:129641763C>T	uc004bqm.3	+	2	170	c.73C>T	c.(73-75)CTC>TTC	p.L25F		NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GCTAAACGAACTCCGCCTGCA	0.517													T	129641763	C	T	129641763	3	4	59	1	0	0	0	0	1	0	0	0	17534	565	20	4	75	4	ZBTB34	9	129641763	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	10691384	129641763	11571668	44	43662											
EHMT1	79813	broad.mit.edu	37	chr9	140728948	140728948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatcgccttcttcagcaccCgcctgatcgaggccggcgag	13	15	2	1	rs61744215	byFrequency	TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr9:140728948C>T	uc011mfc.1	+	26	3725	c.3688C>T	c.(3688-3690)CGC>TGC	p.R1230C	EHMT1_uc004coe.2_Missense_Mutation_p.R135C	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1230	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTTCAGCACCCGCCTGATCGA	0.692													T	140728948	C	T	140728948	3	4	59	1	0	0	0	0	1	0	0	0	4983	652	23	1	3839	1	EHMT1	9	140728948	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	11087185	140728948	484483	45	43663											
CDH23	64072	broad.mit.edu	37	chr10	73437319	73437319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgcccgggacgggggcggcGaggagaccacaggccgggtc	20	12	0	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr10:73437319G>A	uc001jrx.3	+	15	1998	c.1621G>A	c.(1621-1623)GAG>AAG	p.E541K	CDH23_uc001jry.2_Missense_Mutation_p.E157K|CDH23_uc001jrz.2_Missense_Mutation_p.E157K	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	541	Cadherin 5.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CGGGGGCGGCGAGGAGACCAC	0.602													A	73437319	G	A	73437319	3	1	59	1	0	0	0	0	1	0	0	0	3108	1059	37	1	1906	1	CDH23	10	73437319	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08		73437319	62097428	46	43664											
CHUK	1147	broad.mit.edu	37	chr10	101978784	101978784	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccaggtaaatggctgcagatGatgcaaaaaaggcctatatc	10	8	0	2			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr10:101978784G>C	uc001kqp.2	-	7	725	c.670C>G	c.(670-672)CAT>GAT	p.H224D		NM_001278	NP_001269	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	224	Protein kinase.				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		GGCTGCAGATGATGCAAAAAA	0.368													C	101978784	G	C	101978784	3	2	59	1	0	0	0	0	1	0	0	0	3416	1290	45	5	1627	5	CHUK	10	101978784	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	28541465	101978784	33555963	47	43665											
GBF1	8729	broad.mit.edu	37	chr10	104119979	104119979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggtcttccctgcatccgcGagctcttccgcttcctcatc	7	17	3	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr10:104119979G>A	uc001kux.1	+	12	1456	c.1216G>A	c.(1216-1218)GAG>AAG	p.E406K	GBF1_uc001kuw.2_3'UTR|GBF1_uc001kuy.1_Missense_Mutation_p.E406K|GBF1_uc001kuz.1_Missense_Mutation_p.E407K	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	406					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTGCATCCGCGAGCTCTTCCG	0.537													A	104119979	G	A	104119979	3	1	59	1	0	0	0	0	1	0	0	0	6271	1059	37	1	1258	1	GBF1	10	104119979	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	2141195	104119979	31414768	48	43666											
ACADSB	36	broad.mit.edu	37	chr10	124794014	124794014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacatttacagatgaggaaaTgatgataaagagttcaggta	10	3	1	5			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr10:124794014T>C	uc001lhb.2	+	2	302	c.185T>C	c.(184-186)ATG>ACG	p.M62T	ACADSB_uc010qub.1_5'UTR	NM_001609	NP_001600	P45954	ACDSB_HUMAN	acyl-Coenzyme A dehydrogenase, short/branched	62					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	GATGAGGAAATGATGATAAAG	0.313													C	124794014	T	C	124794014	3	2	59	1	0	0	0	0	1	0	0	0	115	1464	51	3	191	3	ACADSB	10	124794014	Missense_Mutation	SNP	T	TCGA-BR-7959-01A-11D-2340-08	20674035	124794014	10740733	49	43667											
DCHS1	8642	broad.mit.edu	37	chr11	6651061	6651061	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcgtggccgagcgcggcgggGagccgtggtctgaggccacc	20	13	1	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr11:6651061G>C	uc001mem.1	-	11	5287	c.4877C>G	c.(4876-4878)TCC>TGC	p.S1626C		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1626	Cadherin 15.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCGCGGCGGGGAGCCGTGGTC	0.652													C	6651061	G	C	6651061	3	2	59	1	0	0	0	0	1	0	0	0	4287	1174	41	5	5063	5	DCHS1	11	6651061	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08		6651061	128355455	50	43668											
CTR9	9646	broad.mit.edu	37	chr11	10795681	10795681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacaagaaggtgaagatgaGgagggtggtgagagaaagaa	18	1	0	7			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr11:10795681G>A	uc001mja.2	+	22	2999	c.2850G>A	c.(2848-2850)GAG>GAA	p.E950E		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	950	Lys-rich.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		gtgaagatgaggagggtggtg	0.194													A	10795681	G	A	10795681	2	1	59	1	0	0	0	0	0	0	0	1	4024	991	35	4		4	CTR9	11	10795681	Silent	SNP	G	TCGA-BR-7959-01A-11D-2340-08	4144620	10795681	124210835	51	43669											
PDE3B	5140	broad.mit.edu	37	chr11	14810696	14810696	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actccacagctgaggagaagCtcaggaacttcaggattgct	11	10	2	2			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr11:14810696C>G	uc001mln.2	+	4	1676	c.1323C>G	c.(1321-1323)AGC>AGG	p.S441R	PDE3B_uc010rcr.1_Missense_Mutation_p.S390R	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	441					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						TGAGGAGAAGCTCAGGAACTT	0.373													G	14810696	C	G	14810696	3	3	59	1	0	0	0	0	1	0	0	0	11638	796	28	5	1337	5	PDE3B	11	14810696	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	4015015	14810696	120195820	52	43670											
INTS4	92105	broad.mit.edu	37	chr11	77632475	77632475	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gaacaatgctggcattgttgGacaggttttagcagcattga	12	6	0	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr11:77632475G>C	uc001oys.2	-	14	1703	c.1675C>G	c.(1675-1677)CCA>GCA	p.P559A	INTS4_uc001oyt.2_RNA	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	559					snRNA processing	integrator complex	protein binding			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			GGCATTGTTGGACAGGTTTTA	0.418													C	77632475	G	C	77632475	3	2	59	1	0	0	0	0	1	0	0	0	7780	1174	41	5	1256	5	INTS4	11	77632475	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	62821779	77632475	57374041	53	43671											
ODZ4	26011	broad.mit.edu	37	chr11	78380749	78380749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgaggtcgtagctgtagCgccagagtggcttgtcattg	14	8	1	2			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr11:78380749C>T	uc001ozl.3	-	32	7104	c.6641G>A	c.(6640-6642)CGC>CAC	p.R2214H	ODZ4_uc001ozk.3_Missense_Mutation_p.R439H|ODZ4_uc009yvb.1_Missense_Mutation_p.R798H	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2214	Extracellular (Potential).|YD 18.				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GTAGCTGTAGCGCCAGAGTGG	0.562													T	78380749	C	T	78380749	3	4	59	1	0	0	0	0	1	0	0	0	10837	768	27	1	1680	1	ODZ4	11	78380749	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	748274	78380749	56625767	54	43672											
CCDC83	220047	broad.mit.edu	37	chr11	85593611	85593611	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acggcatctactaaaggaacTgagtgaagagaaggcagagg	14	6	1	4			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr11:85593611T>C	uc001pbh.1	+	4	748	c.236T>C	c.(235-237)CTG>CCG	p.L79P	CCDC83_uc001pbg.1_Missense_Mutation_p.L79P|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.L36P	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	79	Potential.									skin(1)	1		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTAAAGGAACTGAGTGAAGAG	0.393													C	85593611	T	C	85593611	3	2	59	1	0	0	0	0	1	0	0	0	2857	1580	55	3	246	3	CCDC83	11	85593611	Missense_Mutation	SNP	T	TCGA-BR-7959-01A-11D-2340-08	7212862	85593611	49412905	55	43673											
CASP5	838	broad.mit.edu	37	chr11	104872902	104872902	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgagagccaggcgtctgcgGtcctctctcttttttattgg	11	10	3	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr11:104872902G>C	uc010rva.1	-	5	602	c.570C>G	c.(568-570)GAC>GAG	p.D190E	CASP5_uc010ruz.1_Missense_Mutation_p.D203E|CASP5_uc010rvb.1_Missense_Mutation_p.D132E|CASP5_uc010rvc.1_Missense_Mutation_p.D48E|CASP5_uc009yxh.2_5'UTR|CASP5_uc010rvd.1_5'UTR	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor	190					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GGCGTCTGCGGTCCTCTCTCT	0.468													C	104872902	G	C	104872902	3	2	59	1	0	0	0	0	1	0	0	0	2674	1252	44	5	754	5	CASP5	11	104872902	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	19279291	104872902	30133614	56	43674											
SLC35F2	54733	broad.mit.edu	37	chr11	107675446	107675446	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aattatttctttacataccaAttttccagtcccaatgaatg	3	9	1	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr11:107675446A>T	uc001pjq.2	-	6	1203	c.782T>A	c.(781-783)ATT>AAT	p.I261N	SLC35F2_uc010rvu.1_Missense_Mutation_p.I113N|SLC35F2_uc001pjs.2_3'UTR	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	261					transport	integral to membrane				central_nervous_system(1)	1		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		TTACATACCAATTTTCCAGTC	0.303													T	107675446	A	T	107675446	3	4	59	1	0	0	0	0	1	0	0	0	14589	101	4	5	354	5	SLC35F2	11	107675446	Missense_Mutation	SNP	A	TCGA-BR-7959-01A-11D-2340-08	2802544	107675446	27331070	57	43675											
MCAM	4162	broad.mit.edu	37	chr11	119183094	119183094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccagcaccaggaccccGttgtcgttggttgtctcttc	11	14	1	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr11:119183094G>A	uc001pwf.2	-	8	935	c.906C>T	c.(904-906)AAC>AAT	p.N302N	MCAM_uc001pwg.1_5'Flank	NM_006500	NP_006491	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	302	Ig-like C2-type 1.|Extracellular (Potential).				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				ovary(2)|breast(1)|central_nervous_system(1)	4		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCAGGACCCCGTTGTCGTTGG	0.607													A	119183094	G	A	119183094	2	1	59	1	0	0	0	0	0	0	0	1	9368	1136	40	1		1	MCAM	11	119183094	Silent	SNP	G	TCGA-BR-7959-01A-11D-2340-08	11507648	119183094	15823422	58	43676											
PRB2	653247	broad.mit.edu	37	chr12	11545916	11545916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttggggtggtccttgtgGctttcctggaggagatcggg	18	6	0	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr12:11545916G>A	uc010shk.1	-	3	1131	c.1096C>T	c.(1096-1098)CCA>TCA	p.P366S		NM_006248	NP_006239			proline-rich protein BstNI subfamily 2												0		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGTCCTTGTGGCTTTCCTGGA	0.612													A	11545916	G	A	11545916	3	1	59	1	0	0	0	0	1	0	0	0	12443	1203	42	2	158	2	PRB2	12	11545916	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08		11545916	122305979	59	43677											
ATF7IP	55729	broad.mit.edu	37	chr12	14589055	14589055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcagatgaattttctagacGaaaacgttctaaatcagaag	7	7	4	4			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr12:14589055G>A	uc001rbw.2	+	4	1819	c.1661G>A	c.(1660-1662)CGA>CAA	p.R554Q	ATF7IP_uc010shs.1_Missense_Mutation_p.R553Q|ATF7IP_uc001rbu.2_Missense_Mutation_p.R554Q|ATF7IP_uc001rbv.1_Missense_Mutation_p.R553Q|ATF7IP_uc001rbx.2_Missense_Mutation_p.R553Q|ATF7IP_uc010sht.1_Missense_Mutation_p.R554Q|ATF7IP_uc001rby.3_Missense_Mutation_p.R554Q|ATF7IP_uc001rca.2_Missense_Mutation_p.R554Q	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	554	Glu-rich.|Nuclear localization signal (By similarity).				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						TTTTCTAGACGAAAACGTTCT	0.343													A	14589055	G	A	14589055	3	1	59	1	0	0	0	0	1	0	0	0	1087	1058	37	1	1671	1	ATF7IP	12	14589055	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	3043139	14589055	119262840	60	43678											
ATF7IP	55729	broad.mit.edu	37	chr12	14614026	14614026	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aatttctgcatttagtacttCgtctgctgcagaacagaaca	7	9	2	2			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr12:14614026C>A	uc001rbw.2	+	9	2914	c.2756C>A	c.(2755-2757)TCG>TAG	p.S919*	ATF7IP_uc010shs.1_3'UTR|ATF7IP_uc001rbu.2_Nonsense_Mutation_p.S919*|ATF7IP_uc001rbv.1_Nonsense_Mutation_p.S918*|ATF7IP_uc001rbx.2_Nonsense_Mutation_p.S918*|ATF7IP_uc010sht.1_3'UTR|ATF7IP_uc001rby.3_Nonsense_Mutation_p.S919*|ATF7IP_uc001rca.2_Nonsense_Mutation_p.S919*	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	919					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						TTTAGTACTTCGTCTGCTGCA	0.408													A	14614026	C	A	14614026	4	1	59	1	0	0	0	0	0	1	0	0	1087	893	31	5	2786	5	ATF7IP	12	14614026	Nonsense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	24971	14614026	119237869	61	43679											
IRAK4	51135	broad.mit.edu	37	chr12	44161981	44161981	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttggactaattaggaagctgTcagattttattgatcctcaa	8	6	2	2			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr12:44161981T>A	uc001rnu.3	+	3	197	c.67T>A	c.(67-69)TCA>ACA	p.S23T	IRAK4_uc001rnt.3_Missense_Mutation_p.S23T|IRAK4_uc001rnx.3_5'UTR|IRAK4_uc001rny.3_5'UTR|IRAK4_uc010sky.1_Intron|IRAK4_uc001rnv.3_5'UTR|IRAK4_uc001rnw.3_5'UTR	NM_001114182	NP_001107654	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	23	Death.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TAGGAAGCTGTCAGATTTTAT	0.348													A	44161981	T	A	44161981	3	1	59	1	0	0	0	0	1	0	0	0	7825	1667	58	5	69	5	IRAK4	12	44161981	Missense_Mutation	SNP	T	TCGA-BR-7959-01A-11D-2340-08	29547955	44161981	89689914	62	43680											
COL2A1	1280	broad.mit.edu	37	chr12	48387591	48387591	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtactttctggcctctcaCcttcacaccaggagcacccg	7	16	3	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr12:48387591C>T	uc001rqu.2	-	14	1105	c.924_splice	c.e14+1	p.K308_splice	COL2A1_uc001rqv.2_Splice_Site_p.K239_splice	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor						axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGGCCTCTCACCTTCACACCA	0.552													T	48387591	C	T	48387591	5	4	59	1	0	0	0	0	0	0	1	0	3687	521	18	4	3702	4	COL2A1	12	48387591	Splice_Site	SNP	C	TCGA-BR-7959-01A-11D-2340-08	4225610	48387591	85464304	63	43681											
ITGA7	3679	broad.mit.edu	37	chr12	56082736	56082736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttggccgtgccccgggcGcagtcctagggataaggaca	15	12	0	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr12:56082736G>A	uc001shh.2	-	22	3082	c.2862C>T	c.(2860-2862)TGC>TGT	p.C954C	ITGA7_uc001shg.2_Silent_p.C950C|ITGA7_uc010sps.1_Silent_p.C857C|ITGA7_uc001shf.2_5'Flank|ITGA7_uc009znw.2_Silent_p.C197C|ITGA7_uc009znx.2_Silent_p.C831C	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	994	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						TGCCCCGGGCGCAGTCCTAGG	0.592													A	56082736	G	A	56082736	2	1	59	1	0	0	0	0	0	0	0	1	7881	1079	38	1		1	ITGA7	12	56082736	Silent	SNP	G	TCGA-BR-7959-01A-11D-2340-08	7695145	56082736	77769159	64	43682											
NAV3	89795	broad.mit.edu	37	chr12	78574822	78574822	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acatcacagaggctgttagcTcaggtgatttagtgcacatg	11	8	2	2			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr12:78574822T>A	uc001syp.2	+	30	5862	c.5689T>A	c.(5689-5691)TCA>ACA	p.S1897T	NAV3_uc001syo.2_Missense_Mutation_p.S1875T|NAV3_uc010sub.1_Missense_Mutation_p.S1354T|NAV3_uc009zsf.2_Missense_Mutation_p.S706T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1897						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						GGCTGTTAGCTCAGGTGATTT	0.458										HNSCC(70;0.22)			A	78574822	T	A	78574822	3	1	59	1	0	0	0	0	1	0	0	0	10185	1551	54	5	5737	5	NAV3	12	78574822	Missense_Mutation	SNP	T	TCGA-BR-7959-01A-11D-2340-08	22492086	78574822	55277073	65	43683											
TMEM132D	121256	broad.mit.edu	37	chr12	129569152	129569152	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaccgtcatctccaggggGctgctcaggtgctggtaggt	14	12	3	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr12:129569152G>T	uc009zyl.1	-	6	1867	c.1539C>A	c.(1537-1539)AGC>AGA	p.S513R	TMEM132D_uc001uia.2_Missense_Mutation_p.S51R	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	513	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCTCCAGGGGGCTGCTCAGGT	0.552													T	129569152	G	T	129569152	3	4	59	1	0	0	0	0	1	0	0	0	16044	1194	42	5	1776	5	TMEM132D	12	129569152	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	50994330	129569152	4282743	66	43684											
MTUS2	23281	broad.mit.edu	37	chr13	29933476	29933476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggcccgtgaggctgagCggcagctggtgctgcggctg	19	12	0	2			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr13:29933476C>T	uc001usl.3	+	6	3071	c.3013C>T	c.(3013-3015)CGG>TGG	p.R1005W		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	995	Localization to the growing distal tip of microtubules.|Potential.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						TGAGGCTGAGCGGCAGCTGGT	0.627													T	29933476	C	T	29933476	3	4	59	1	0	0	0	0	1	0	0	0	9966	759	27	1	3035	1	MTUS2	13	29933476	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08		29933476	85236402	67	43685											
FAM48A	55578	broad.mit.edu	37	chr13	37622737	37622737	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctagttctaaagcttgttgCtgtaaaaagtaaatagtata	8	4	1	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr13:37622737C>T	uc001uwg.2	-	3	252	c.4_splice	c.e3-1	p.Q2_splice	FAM48A_uc010abt.2_Splice_Site_p.Q2_splice|FAM48A_uc001uwh.2_Splice_Site_p.Q2_splice|FAM48A_uc001uwi.2_Splice_Site_p.Q2_splice|FAM48A_uc001uwj.2_Splice_Site_p.Q2_splice|FAM48A_uc001uwk.2_Splice_Site_p.Q2_splice|FAM48A_uc010tes.1_Intron|FAM48A_uc001uwl.1_Splice_Site_p.Q2_splice	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A						autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		AAGCTTGTTGCTGTAAAAAGT	0.274													T	37622737	C	T	37622737	5	4	59	1	0	0	0	0	0	0	1	0	5572	811	28	2	2435	2	FAM48A	13	37622737	Splice_Site	SNP	C	TCGA-BR-7959-01A-11D-2340-08	7689261	37622737	77547141	68	43686											
LCP1	3936	broad.mit.edu	37	chr13	46717504	46717504	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggaactttgatcttttcaTagagctggaagatgaccagg	11	7	2	4			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr13:46717504T>C	uc001vaz.3	-	12	1415	c.1289A>G	c.(1288-1290)TAT>TGT	p.Y430C	LCP1_uc010ack.2_5'Flank|LCP1_uc001vay.3_Missense_Mutation_p.Y27C|LCP1_uc001vba.3_Missense_Mutation_p.Y430C	NM_002298	NP_002289	P13796	PLSL_HUMAN	L-plastin	430	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			lung(4)|ovary(3)	7		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GATCTTTTCATAGAGCTGGAA	0.353			T	BCL6	NHL 								C	46717504	T	C	46717504	3	2	59	1	0	0	0	0	1	0	0	0	8691	1406	49	3	614	3	LCP1	13	46717504	Missense_Mutation	SNP	T	TCGA-BR-7959-01A-11D-2340-08	9094767	46717504	68452374	69	43687											
MYO16	23026	broad.mit.edu	37	chr13	109379795	109379795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctttcttttagtgtgctcGgtatgataatgccttcattg	8	7	3	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr13:109379795G>A	uc001vqt.1	+	4	431	c.305G>A	c.(304-306)CGG>CAG	p.R102Q	MYO16_uc010agk.1_Missense_Mutation_p.R124Q	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	102	ANK 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TAGTGTGCTCGGTATGATAAT	0.383													A	109379795	G	A	109379795	3	1	59	1	0	0	0	0	1	0	0	0	10064	1116	39	1	315	1	MYO16	13	109379795	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	62662291	109379795	5790083	70	43688											
OR4M1	441670	broad.mit.edu	37	chr14	20249366	20249366	+	Missense_Mutation	SNP	A	A	C													tacacattgagaaacaaggaAgtaaaggcagccatgaggaa							TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr14:20249366A>C	uc010tku.1	+	1	885	c.885A>C	c.(883-885)GAA>GAC	p.E295D		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	295	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAAACAAGGAAGTAAAGGCAG	0.358													C	20249366	A	C	20249366	3	2	59	1	0	0	0	0	1	0	0	0	11075	69	3	5	887	5	OR4M1	14	20249366	Missense_Mutation	SNP	A	TCGA-BR-7959-01A-11D-2340-08		20249366	87100174	71	43689	153	2									
OR4M1	441670	broad.mit.edu	37	chr14	20249373	20249373	+	Missense_Mutation	SNP	G	G	A													tgagaaacaaggaagtaaagGcagccatgaggaaggtggtc							TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr14:20249373G>A	uc010tku.1	+	1	892	c.892G>A	c.(892-894)GCA>ACA	p.A298T		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	298	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGAAGTAAAGGCAGCCATGAG	0.353													A	20249373	G	A	20249373	3	1	59	1	0	0	0	0	1	0	0	0	11075	1203	42	2	894	2	OR4M1	14	20249373	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	7	20249373	87100167	72	43690	153	2									
SLC24A4	123041	broad.mit.edu	37	chr14	92915526	92915526	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgatttctatgacggtagCtatgatgacccttccgtgcc	9	10	1	4			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr14:92915526C>T	uc001yak.2	+	10	819	c.795C>T	c.(793-795)AGC>AGT	p.S265S	SLC24A4_uc001yai.2_Silent_p.S218S|SLC24A4_uc010twm.1_Intron|SLC24A4_uc001yaj.2_Intron|SLC24A4_uc010auj.2_Intron|SLC24A4_uc010twn.1_Silent_p.S38S|uc001yal.1_RNA	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	282	Extracellular (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		ATGACGGTAGCTATGATGACC	0.493													T	92915526	C	T	92915526	2	4	59	1	0	0	0	0	0	0	0	1	14468	796	28	2		2	SLC24A4	14	92915526	Silent	SNP	C	TCGA-BR-7959-01A-11D-2340-08	72666153	92915526	14434014	73	43691											
ARL6IP1	23204	broad.mit.edu	37	chr16	18809256	18809256	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atgctacctaccatttattgGagccaaaaattctaggcgct	7	10	1	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr16:18809256G>C	uc002dfl.1	-	3	350	c.281C>G	c.(280-282)TCC>TGC	p.S94C	ARL6IP1_uc010van.1_Missense_Mutation_p.S65C|ARL6IP1_uc010bvz.1_RNA	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting	94						integral to membrane	protein binding				0						CCATTTATTGGAGCCAAAAAT	0.393													C	18809256	G	C	18809256	3	2	59	1	0	0	0	0	1	0	0	0	942	1174	41	5	346	5	ARL6IP1	16	18809256	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08		18809256	71545497	74	43692			1	15		4	4	780	G		3.513983e-09
ARL6IP1	23204	broad.mit.edu	37	chr16	18809334	18809334	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	taacaaaacaggaaacgccgGacagaacagatggatctaga	10	8	1	3			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr16:18809334G>C	uc002dfl.1	-	3	272	c.203C>G	c.(202-204)TCC>TGC	p.S68C	ARL6IP1_uc010van.1_Missense_Mutation_p.S39C|ARL6IP1_uc010bvz.1_RNA	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting	68	Helical; (Potential).					integral to membrane	protein binding				0						GGAAACGCCGGACAGAACAGA	0.338													C	18809334	G	C	18809334	3	2	59	1	0	0	0	0	1	0	0	0	942	1174	41	5	424	5	ARL6IP1	16	18809334	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	78	18809334	71545419	75	43693			1	15		4	4	780	G		3.513983e-09
ARL6IP1	23204	broad.mit.edu	37	chr16	18809360	18809360	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acagatggatctagatagtaGataatcctgttaaaaaaatt	7	4	1	3			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr16:18809360G>C	uc002dfl.1	-	3	246	c.177C>G	c.(175-177)ATC>ATG	p.I59M	ARL6IP1_uc010van.1_Missense_Mutation_p.I30M|ARL6IP1_uc010bvz.1_RNA	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting	59	Helical; (Potential).					integral to membrane	protein binding				0						CTAGATAGTAGATAATCCTGT	0.303													C	18809360	G	C	18809360	3	2	59	1	0	0	0	0	1	0	0	0	942	932	33	5	450	5	ARL6IP1	16	18809360	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	26	18809360	71545393	76	43694			1	15		4	4	780	G		3.513983e-09
ARL6IP1	23204	broad.mit.edu	37	chr16	18810035	18810035	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcacttacagaaacaccaaaGaaaccacacccatgatggca	5	13	1	3			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr16:18810035G>C	uc002dfl.1	-	2	227	c.158C>G	c.(157-159)TCT>TGT	p.S53C	ARL6IP1_uc010van.1_Missense_Mutation_p.S24C|ARL6IP1_uc010bvz.1_RNA	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting	53	Helical; (Potential).					integral to membrane	protein binding				0						AAACACCAAAGAAACCACACC	0.423													C	18810035	G	C	18810035	3	2	59	1	0	0	0	0	1	0	0	0	942	942	33	5	473	5	ARL6IP1	16	18810035	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	675	18810035	71544718	77	43695			1	15		4	4	780	G		3.513983e-09
ZNF423	23090	broad.mit.edu	37	chr16	49670955	49670955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttctgcaggtcatccaccGaggaaaattgcttgtcgcag	11	11	2	0	rs144284315		TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr16:49670955G>A	uc002efs.2	-	5	2406	c.2108C>T	c.(2107-2109)TCG>TTG	p.S703L	ZNF423_uc010vgn.1_Missense_Mutation_p.S586L	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	703	C2H2-type 16.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GTCATCCACCGAGGAAAATTG	0.552													A	49670955	G	A	49670955	3	1	59	1	0	0	0	0	1	0	0	0	17895	1059	37	1	1766	1	ZNF423	16	49670955	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	30860920	49670955	40683798	78	43696											
HYDIN	54768	broad.mit.edu	37	chr16	70902554	70902554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatgcggtcatcccagtcGgggacctggtctgcagggag	16	11	2	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr16:70902554G>A	uc002ezr.2	-	66	11354	c.11226C>T	c.(11224-11226)CCC>CCT	p.P3742P	HYDIN_uc010cfy.2_5'Flank	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3743										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CATCCCAGTCGGGGACCTGGT	0.507													A	70902554	G	A	70902554	2	1	59	1	0	0	0	0	0	0	0	1	7467	1103	39	1		1	HYDIN	16	70902554	Silent	SNP	G	TCGA-BR-7959-01A-11D-2340-08	21231599	70902554	19452199	79	43697											
CNTROB	116840	broad.mit.edu	37	chr17	7846798	7846798	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcggctggcgcaggctcaGgagagcagcctacggcaagc	17	12	1	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr17:7846798G>A	uc002gjq.2	+	11	2320	c.1401G>A	c.(1399-1401)CAG>CAA	p.Q467Q	CNTROB_uc002gjp.2_Silent_p.Q467Q|CNTROB_uc002gjr.2_Silent_p.Q369Q|CNTROB_uc010vum.1_Silent_p.Q179Q	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	467	Potential.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)				CGCAGGCTCAGGAGAGCAGCC	0.622													A	7846798	G	A	7846798	2	1	59	1	0	0	0	0	0	0	0	1	3651	991	35	4		4	CNTROB	17	7846798	Silent	SNP	G	TCGA-BR-7959-01A-11D-2340-08		7846798	73348412	80	43698											
DHRS7C	201140	broad.mit.edu	37	chr17	9694507	9694507	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgttctgcacagctgacTttgaccacagcctggacacc	8	14	1	2			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr17:9694507T>G	uc010vvb.1	-	1	95	c.95A>C	c.(94-96)AAG>ACG	p.K32T	DHRS7C_uc010cof.2_Missense_Mutation_p.K32T	NM_001105571	NP_001099041	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	32						extracellular region	binding|oxidoreductase activity				0						CACAGCTGACTTTGACCACAG	0.567													G	9694507	T	G	9694507	3	3	59	1	0	0	0	0	1	0	0	0	4497	1609	56	5	864	5	DHRS7C	17	9694507	Missense_Mutation	SNP	T	TCGA-BR-7959-01A-11D-2340-08	1847709	9694507	71500703	81	43699											
KRT40	125115	broad.mit.edu	37	chr17	39134527	39134527	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttgctcgaggtgcatgtggtCgaacatgggctacaggaaag	15	7	0	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr17:39134527C>G	uc010cxh.1	-	9	1379	c.1218G>C	c.(1216-1218)TCG>TCC	p.S406S	KRT40_uc002hvq.1_RNA	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	type I hair keratin KA36	406	Tail.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)				TGCATGTGGTCGAACATGGGC	0.443													G	39134527	C	G	39134527	2	3	59	1	0	0	0	0	0	0	0	1	8478	871	31	5		5	KRT40	17	39134527	Silent	SNP	C	TCGA-BR-7959-01A-11D-2340-08	29440020	39134527	42060683	82	43700											
EVPL	2125	broad.mit.edu	37	chr17	74003289	74003289	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagggggtctttgcggcaGcggcccatggcctccttgta	14	13	2	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr17:74003289G>A	uc002jqi.2	-	22	6225	c.5997C>T	c.(5995-5997)CGC>CGT	p.R1999R	EVPL_uc010wss.1_Silent_p.R2021R|EVPL_uc010wst.1_Silent_p.R1469R	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1999	Globular 2.|Plectin 7.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CTTTGCGGCAGCGGCCCATGG	0.667													A	74003289	G	A	74003289	2	1	59	1	0	0	0	0	0	0	0	1	5292	958	34	2		2	EVPL	17	74003289	Silent	SNP	G	TCGA-BR-7959-01A-11D-2340-08	34868762	74003289	7191921	83	43701											
RNF213	57674	broad.mit.edu	37	chr17	78350178	78350178	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagccgttttgcaacatcGctcgtggacaattctgtgcc	9	12	2	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr17:78350178G>A	uc002jyh.1	+	27	7705	c.7482G>A	c.(7480-7482)TCG>TCA	p.S2494S	uc002jyi.1_Intron|RNF213_uc010dhw.1_Silent_p.S876S	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTGCAACATCGCTCGTGGACA	0.483													A	78350178	G	A	78350178	2	1	59	1	0	0	0	0	0	0	0	1	13477	1074	38	1		1	RNF213	17	78350178	Silent	SNP	G	TCGA-BR-7959-01A-11D-2340-08	4346889	78350178	2845032	84	43702											
HSD11B1L	374875	broad.mit.edu	37	chr19	5686455	5686455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactgccggaagctgggcgCccccaaggtcttctacatcg	12	14	2	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:5686455C>T	uc002mck.2	+	4	483	c.233C>T	c.(232-234)GCC>GTC	p.A78V	HSD11B1L_uc002mcu.2_Intron|HSD11B1L_uc002mcl.2_Intron|HSD11B1L_uc002mcm.2_Intron|HSD11B1L_uc002mcq.2_Intron|HSD11B1L_uc002mcr.2_Intron|HSD11B1L_uc002mcs.2_Missense_Mutation_p.A132V|HSD11B1L_uc010dug.2_Missense_Mutation_p.A125V|HSD11B1L_uc002mct.2_Intron|HSD11B1L_uc002mco.2_5'UTR|HSD11B1L_uc002mcn.2_Missense_Mutation_p.A78V|HSD11B1L_uc002mcp.2_Intron	NM_198533	NP_940935	Q7Z5J1	DHI1L_HUMAN	short-chain dehydrogenase/reductase 10 isoform	78						extracellular region	binding|oxidoreductase activity				0						AAGCTGGGCGCCCCCAAGGTC	0.701													T	5686455	C	T	5686455	3	4	59	1	0	0	0	0	1	0	0	0	7376	739	26	2	243	2	HSD11B1L	19	5686455	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08		5686455	53442528	85	43703											
TMEM146	257062	broad.mit.edu	37	chr19	5749138	5749138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgaactggcagttataactCgggaggataatttgtattat	10	4	0	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:5749138C>T	uc002mda.2	+	11	992	c.931C>T	c.(931-933)CGG>TGG	p.R311W	TMEM146_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	311	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						AGTTATAACTCGGGAGGATAA	0.303													T	5749138	C	T	5749138	3	4	59	1	0	0	0	0	1	0	0	0	16057	875	31	1	973	1	TMEM146	19	5749138	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	62683	5749138	53379845	86	43704											
MAP2K7	5609	broad.mit.edu	37	chr19	7977200	7977200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaacacagcttcatcaagCgctacgagacgctggaggtg	13	10	2	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:7977200C>T	uc002mit.2	+	11	1209	c.1144C>T	c.(1144-1146)CGC>TGC	p.R382C	MAP2K7_uc002miv.2_Missense_Mutation_p.R389C|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.R389C|MAP2K7_uc010dvv.2_Missense_Mutation_p.R257C	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	382					activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	CTTCATCAAGCGCTACGAGAC	0.657													T	7977200	C	T	7977200	3	4	59	1	0	0	0	0	1	0	0	0	9242	768	27	1	1186	1	MAP2K7	19	7977200	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	2228062	7977200	51151783	87	43705											
MYO1F	4542	broad.mit.edu	37	chr19	8618058	8618058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgttgcgcacagtcttggCgttgccgaaggcctcgagca	14	11	1	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:8618058C>T	uc002mkg.2	-	6	583	c.469G>A	c.(469-471)GCC>ACC	p.A157T	MYO1F_uc002mkh.2_Missense_Mutation_p.A157T|MYO1F_uc010xkf.1_Missense_Mutation_p.A157T	NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	157	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						ACAGTCTTGGCGTTGCCGAAG	0.547													T	8618058	C	T	8618058	3	4	59	1	0	0	0	0	1	0	0	0	10073	768	27	1	2919	1	MYO1F	19	8618058	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	640858	8618058	50510925	88	43706											
MUC16	94025	broad.mit.edu	37	chr19	9086511	9086511	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgacctccttggtccaAaatgtgctgccccctatgaa	10	12	0	2			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:9086511A>C	uc002mkp.2	-	1	5508	c.5304T>G	c.(5302-5304)TTT>TTG	p.F1768L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1768	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCTTGGTCCAAAATGTGCTGC	0.498													C	9086511	A	C	9086511	3	2	59	1	0	0	0	0	1	0	0	0	9973	11	1	5	38555	5	MUC16	19	9086511	Missense_Mutation	SNP	A	TCGA-BR-7959-01A-11D-2340-08	468453	9086511	50042472	89	43707											
MAN2B1	4125	broad.mit.edu	37	chr19	12774255	12774255	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacagattccttggcgggTtgtaaccattgggaagcaca	12	9	0	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:12774255T>C	uc002mub.2	-	6	861	c.785A>G	c.(784-786)AAC>AGC	p.N262S	MAN2B1_uc010dyv.1_Missense_Mutation_p.N262S	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	262					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						CCTTGGCGGGTTGTAACCATT	0.587													C	12774255	T	C	12774255	3	2	59	1	0	0	0	0	1	0	0	0	9216	1725	60	3	2326	3	MAN2B1	19	12774255	Missense_Mutation	SNP	T	TCGA-BR-7959-01A-11D-2340-08	3687744	12774255	46354728	90	43708											
FBXW9	84261	broad.mit.edu	37	chr19	12800974	12800975	+	Frame_Shift_Ins	INS	-	-	C													tatcagagcccctcgaaggcINScccccccagcccatgagagc							TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:12800973_12800974G>GC	uc010dyx.2	-	5	894_895	c.894_895C>GC	c.(892-897)gggcctfs	p.G298fs	FBXW9_uc010xmp.2_Intron|AX747991_uc002mul.1_3'UTR|FBXW9_uc002mum.1_Intron	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	Homo sapiens F-box and WD repeat domain containing 9 (FBXW9), mRNA.	308							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CCCCTCGAAGGCCCCCCCCAGC	0.624													C	12800975	-	C	12800974	7	5	59	1	0	1	1	0	0	0	0	0	5771	754	26	0		0	FBXW9	19	12800974	Frame_Shift_Ins	INS	-	TCGA-BR-7959-01A-11D-2340-08	26719	12800974	46328009	91	43709											
ABHD8	79575	broad.mit.edu	37	chr19	17412071	17412071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccggatctgccagctccaCctccagggcggccggcggct	14	18	1	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:17412071C>T	uc002ngb.3	-	2	595	c.355G>A	c.(355-357)GTG>ATG	p.V119M		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	119							hydrolase activity				0						GCCAGCTCCACCTCCAGGGCG	0.537													T	17412071	C	T	17412071	3	4	59	1	0	0	0	0	1	0	0	0	87	507	18	4	980	4	ABHD8	19	17412071	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	4611097	17412071	41716912	92	43710											
ZNF91	7644	broad.mit.edu	37	chr19	23542674	23542674	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatcttatgtgtagtaagcTttgaggatcgattaaaagct	9	4	1	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:23542674T>G	uc002nre.2	-	4	3220	c.3107A>C	c.(3106-3108)AAG>ACG	p.K1036T	ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.K1004T	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	1036	C2H2-type 32.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGTAGTAAGCTTTGAGGATCG	0.383													G	23542674	T	G	23542674	3	3	59	1	0	0	0	0	1	0	0	0	18197	1609	56	5	472	5	ZNF91	19	23542674	Missense_Mutation	SNP	T	TCGA-BR-7959-01A-11D-2340-08	6130603	23542674	35586309	93	43711											
POP4	10775	broad.mit.edu	37	chr19	30101381	30101381	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagcgcagcacgccccgcatGagcccgcaggcccgcgagga	14	17	0	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:30101381G>A	uc002nsf.2	+	3	182	c.126G>A	c.(124-126)ATG>ATA	p.M42I	POP4_uc002nsg.2_Intron	NM_006627	NP_006618	O95707	RPP29_HUMAN	processing of precursor 4	42					mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding				0	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			CGCCCCGCATGAGCCCGCAGG	0.672											OREG0025393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	30101381	G	A	30101381	3	1	59	1	0	0	0	0	1	0	0	0	12252	1290	45	4	136	4	POP4	19	30101381	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	6558707	30101381	29027602	94	43712											
ZNF382	84911	broad.mit.edu	37	chr19	37118304	37118304	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgtgggaaagccttcaGtaggaaatcaaacctcattc	9	9	4	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:37118304G>C	uc002oek.2	+	5	1618	c.1505G>C	c.(1504-1506)AGT>ACT	p.S502T	ZNF382_uc010efa.2_Missense_Mutation_p.S453T|ZNF382_uc010efb.2_Missense_Mutation_p.S501T|ZNF382_uc002oel.2_Missense_Mutation_p.S501T	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	zinc finger protein 382	502	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).|C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAAGCCTTCAGTAGGAAATCA	0.448													C	37118304	G	C	37118304	3	2	59	1	0	0	0	0	1	0	0	0	17870	1029	36	5	1515	5	ZNF382	19	37118304	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	7016923	37118304	22010679	95	43713											
ZNF780A	284323	broad.mit.edu	37	chr19	40581166	40581166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctacgattaaaggacttccCacattccttacattcaaacg	5	12	1	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:40581166C>T	uc002omy.2	-	6	1408	c.1183G>A	c.(1183-1185)GGG>AGG	p.G395R	ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.G395R|ZNF780A_uc010xvh.1_Missense_Mutation_p.G396R	NM_001010880	NP_001010880	O75290	Z780A_HUMAN	zinc finger protein 780A isoform b	395	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGGACTTCCCACATTCCTTA	0.408													T	40581166	C	T	40581166	3	4	59	1	0	0	0	0	1	0	0	0	18149	594	21	4	873	4	ZNF780A	19	40581166	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	3462862	40581166	18547817	96	43714											
PRKCG	5582	broad.mit.edu	37	chr19	54394999	54394999	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctatgtgaaactgaagctcAtcccagaccctcggaacctg	8	14	1	3			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:54394999A>T	uc002qcq.1	+	6	883	c.601A>T	c.(601-603)ATC>TTC	p.I201F	PRKCG_uc010eqz.1_Missense_Mutation_p.I201F|PRKCG_uc010yef.1_Missense_Mutation_p.I201F|PRKCG_uc010yeg.1_Missense_Mutation_p.I201F|PRKCG_uc010yeh.1_Missense_Mutation_p.I88F	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	201	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACTGAAGCTCATCCCAGACCC	0.532													T	54394999	A	T	54394999	3	4	59	1	0	0	0	0	1	0	0	0	12512	217	8	5	623	5	PRKCG	19	54394999	Missense_Mutation	SNP	A	TCGA-BR-7959-01A-11D-2340-08	13813833	54394999	4733984	97	43715											
ZNF134	7693	broad.mit.edu	37	chr19	58132516	58132516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcacactgagtcaaagccGtttgagtgcattgaatgcgg	11	8	2	3			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:58132516G>A	uc002qpn.2	+	3	1128	c.1029G>A	c.(1027-1029)CCG>CCA	p.P343P	ZNF134_uc002qpo.2_Silent_p.P170P|ZNF211_uc010yhb.1_5'UTR	NM_003435	NP_003426	P52741	ZN134_HUMAN	zinc finger protein 134	343						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		AGTCAAAGCCGTTTGAGTGCA	0.423													A	58132516	G	A	58132516	2	1	59	1	0	0	0	0	0	0	0	1	17721	1132	40	1		1	ZNF134	19	58132516	Silent	SNP	G	TCGA-BR-7959-01A-11D-2340-08	3737517	58132516	996467	98	43716											
TGM3	7053	broad.mit.edu	37	chr20	2312665	2312665	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctctgaccaggaaagaCaagtgttccaaaaggctttg	11	9	1	2			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr20:2312665C>T	uc002wfx.3	+	10	1448	c.1351C>T	c.(1351-1353)CAA>TAA	p.Q451*		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	451					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	CCAGGAAAGACAAGTGTTCCA	0.532													T	2312665	C	T	2312665	4	4	59	1	0	0	0	0	0	1	0	0	15828	479	17	4	1389	4	TGM3	20	2312665	Nonsense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08		2312665	60712855	99	43717											
ZNF343	79175	broad.mit.edu	37	chr20	2464884	2464884	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggttcatactctctacagttGattgctccaaatctcaaggt	7	10	3	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr20:2464884G>A	uc002wge.1	-	6	1211	c.723C>T	c.(721-723)ATC>ATT	p.I241I	ZNF343_uc010gao.1_Silent_p.I241I|ZNF343_uc002wgd.1_Silent_p.I151I	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						CTCTACAGTTGATTGCTCCAA	0.458													A	2464884	G	A	2464884	2	1	59	1	0	0	0	0	0	0	0	1	17855	1280	45	4		4	ZNF343	20	2464884	Silent	SNP	G	TCGA-BR-7959-01A-11D-2340-08	152219	2464884	60560636	100	43718											
SLC24A3	57419	broad.mit.edu	37	chr20	19677542	19677542	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgcatggccagcctcatTgtggccagacaaggtgggac	14	11	1	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr20:19677542T>C	uc002wrl.2	+	14	1790	c.1593T>C	c.(1591-1593)ATT>ATC	p.I531I		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	531	Alpha-2.|Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						CCAGCCTCATTGTGGCCAGAC	0.383													C	19677542	T	C	19677542	2	2	59	1	0	0	0	0	0	0	0	1	14467	1800	63	3		3	SLC24A3	20	19677542	Silent	SNP	T	TCGA-BR-7959-01A-11D-2340-08	17212658	19677542	43347978	101	43719											
ID1	3397	broad.mit.edu	37	chr20	30193528	30193528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttggagctgaactcggaatCcgaagttggaacccccgggg	15	10	0	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr20:30193528C>T	uc002wwg.1	+	1	437	c.338C>T	c.(337-339)TCC>TTC	p.S113F	ID1_uc002wwh.1_Missense_Mutation_p.S113F|hsa-mir-3193|MI0014238_5'Flank	NM_002165	NP_002156	P41134	ID1_HUMAN	inhibitor of DNA binding 1 isoform a	113					angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding			ovary(1)	1	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			AACTCGGAATCCGAAGTTGGA	0.642													T	30193528	C	T	30193528	3	4	59	1	0	0	0	0	1	0	0	0	7489	855	30	4	340	4	ID1	20	30193528	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	10515986	30193528	32831992	102	43720											
ARFGEF2	10564	broad.mit.edu	37	chr20	47587742	47587742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccccgtattcaggactcacGagatgttcatcaatgcaatc	8	12	4	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr20:47587742G>A	uc002xtx.3	+	10	1428	c.1276G>A	c.(1276-1278)GAG>AAG	p.E426K		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	426					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CAGGACTCACGAGATGTTCAT	0.488													A	47587742	G	A	47587742	3	1	59	1	0	0	0	0	1	0	0	0	853	1059	37	1	1314	1	ARFGEF2	20	47587742	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	17394214	47587742	15437778	103	43721											
KCNG1	3755	broad.mit.edu	37	chr20	49626833	49626833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccgaggtgcagctcagcgCgctgtagtcgtagtcagaat	14	10	2	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr20:49626833C>T	uc002xwa.3	-	2	338	c.43G>A	c.(43-45)GCG>ACG	p.A15T	KCNG1_uc002xwb.2_Missense_Mutation_p.A15T	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	15	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						CAGCTCAGCGCGCTGTAGTCG	0.662													T	49626833	C	T	49626833	3	4	59	1	0	0	0	0	1	0	0	0	8027	768	27	1	1506	1	KCNG1	20	49626833	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	2039091	49626833	13398687	104	43722											
NCAM2	4685	broad.mit.edu	37	chr21	22906924	22906924	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagagttactaatcacgaAgatgggagcccagtaaatga	11	6	1	3			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr21:22906924A>C	uc002yld.1	+	17	2598	c.2349A>C	c.(2347-2349)GAA>GAC	p.E783D	NCAM2_uc011acb.1_Missense_Mutation_p.E641D	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	783	Cytoplasmic (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CTAATCACGAAGATGGGAGCC	0.413													C	22906924	A	C	22906924	3	2	59	1	0	0	0	0	1	0	0	0	10203	69	3	5	2415	5	NCAM2	21	22906924	Missense_Mutation	SNP	A	TCGA-BR-7959-01A-11D-2340-08		22906924	25222971	105	43723											
TOP3B	8940	broad.mit.edu	37	chr22	22313018	22313018	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtgccgttctgggggagCgtgtaggtctcatcgcagtg	17	8	2	0			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr22:22313018C>T	uc002zvs.2	-	17	2388	c.1953G>A	c.(1951-1953)ACG>ACA	p.T651T	TOP3B_uc010gtm.1_Silent_p.T196T|TOP3B_uc002zvr.2_Silent_p.T376T|TOP3B_uc010gtl.2_Silent_p.T651T|TOP3B_uc002zvt.3_Silent_p.T651T	NM_003935	NP_003926	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	651					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			kidney(1)	1	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TCTGGGGGAGCGTGTAGGTCT	0.642													T	22313018	C	T	22313018	2	4	59	1	0	0	0	0	0	0	0	1	16365	755	27	1		1	TOP3B	22	22313018	Silent	SNP	C	TCGA-BR-7959-01A-11D-2340-08		22313018	28991548	106	43724											
ELFN2	114794	broad.mit.edu	37	chr22	37771510	37771510	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctcaatgagccagcagtcgGcacgcacggcacccggccgg	13	17	1	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr22:37771510G>C	uc003asq.3	-	3	851	c.65C>G	c.(64-66)GCC>GGC	p.A22G		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	22						cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					CCAGCAGTCGGCACGCACGGC	0.697													C	37771510	G	C	37771510	3	2	59	1	0	0	0	0	1	0	0	0	5058	1203	42	5	2401	5	ELFN2	22	37771510	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	15458492	37771510	13533056	107	43725											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51045178	51045178	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtcaagctgagtctgagCggaggagggcccgaggtggg	22	7	2	2			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr22:51045178C>T	uc003bmx.2	+	10	2334	c.2217C>T	c.(2215-2217)AGC>AGT	p.S739S	MAPK8IP2_uc003bmy.2_Silent_p.S712S|MAPK8IP2_uc011asc.1_Silent_p.S93S	NM_012324	NP_036456	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting	739	PID.				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			large_intestine(2)|central_nervous_system(1)	3		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGAGTCTGAGCGGAGGAGGGC	0.667													T	51045178	C	T	51045178	2	4	59	1	0	0	0	0	0	0	0	1	9285	767	27	1		1	MAPK8IP2	22	51045178	Silent	SNP	C	TCGA-BR-7959-01A-11D-2340-08	13273668	51045178	259388	108	43726											
OTUD6A	139562	broad.mit.edu	37	chrX	69282672	69282672	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagcccacagaaagagagaaAgaatggagtccgaggagagg	15	6	0	5			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chrX:69282672A>T	uc004dxu.1	+	1	332	c.298A>T	c.(298-300)AGA>TGA	p.R100*		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	100										lung(1)|skin(1)	2						AAAGAGAGAAAGAATGGAGTC	0.582													T	69282672	A	T	69282672	4	4	59	1	0	0	0	0	0	1	0	0	11316	64	3	5	300	5	OTUD6A	23	69282672	Nonsense_Mutation	SNP	A	TCGA-BR-7959-01A-11D-2340-08		69282672	85987888	109	43727											
PHKA1	5255	broad.mit.edu	37	chrX	71800871	71800871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattgcatggcacagatgCtgtggggcaggaactcctgc	13	11	1	1			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chrX:71800871C>T	uc004eax.3	-	32	3954	c.3653G>A	c.(3652-3654)AGC>AAC	p.S1218N	PHKA1_uc004eay.3_Missense_Mutation_p.S1205N|PHKA1_uc011mqi.1_Missense_Mutation_p.S1146N|PHKA1_uc010nll.2_Missense_Mutation_p.S250N	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	1218					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					GGCACAGATGCTGTGGGGCAG	0.542													T	71800871	C	T	71800871	3	4	59	1	0	0	0	0	1	0	0	0	11843	797	28	2	22	2	PHKA1	23	71800871	Missense_Mutation	SNP	C	TCGA-BR-7959-01A-11D-2340-08	2518199	71800871	83469689	110	43728											
ARMCX1	51309	broad.mit.edu	37	chrX	100808144	100808144	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggtgattcagaggtcaaGcctgaggtgagtttgggact	16	6	2	4			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chrX:100808144G>T	uc004ehv.2	+	4	602	c.231G>T	c.(229-231)AAG>AAT	p.K77N	ARMCX1_uc004ehw.2_Missense_Mutation_p.K77N	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	77						integral to membrane	binding			ovary(3)|pancreas(1)	4						CAGAGGTCAAGCCTGAGGTGA	0.567													T	100808144	G	T	100808144	3	4	59	1	0	0	0	0	1	0	0	0	959	962	34	5	233	5	ARMCX1	23	100808144	Missense_Mutation	SNP	G	TCGA-BR-7959-01A-11D-2340-08	29007273	100808144	54462416	111	43729											
RPL11	6135	broad.mit.edu	37	chr1	24018320	24018320	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctgctctccatcatggcgGtgagtagctgggacctggat	13	11	2	1			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr1:24018320G>T	uc001bhk.2	+	1	26	c.6_splice	c.e1+1	p.A2_splice	RPL11_uc001bhl.2_Splice_Site_p.A2_splice|RPL11_uc001bhm.2_5'Flank|RPL11_uc001bhn.1_5'Flank	NM_000975	NP_000966	P62913	RL11_HUMAN	ribosomal protein L11						endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CATCATGGCGGTGAGTAGCTG	0.607											OREG0013231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	24018320	G	T	24018320	5	4	60	1	0	0	0	0	0	0	1	0	13557	1275	44	5	9	5	RPL11	1	24018320	Splice_Site	SNP	G	TCGA-BR-8058-01A-31D-2340-08		24018320	225232301	1	43730											
PAQR7	164091	broad.mit.edu	37	chr1	26189730	26189730	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctggcatgtgcggcccaGcaggcctggtttctggatgt	14	12	1	0			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr1:26189730G>A	uc001bkx.2	-	2	1268	c.601C>T	c.(601-603)CTG>TTG	p.L201L		NM_178422	NP_848509	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	201	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)	3		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GTGCGGCCCAGCAGGCCTGGT	0.592													A	26189730	G	A	26189730	2	1	60	1	0	0	0	0	0	0	0	1	11440	962	34	2		2	PAQR7	1	26189730	Silent	SNP	G	TCGA-BR-8058-01A-31D-2340-08	2171410	26189730	223060891	2	43731											
WDR65	149465	broad.mit.edu	37	chr1	43647330	43647330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgtcatccatcccttgcCggaagcgcaaagttcttaat	7	11	2	0			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr1:43647330C>T	uc001cip.1	+	3	404	c.283C>T	c.(283-285)CGG>TGG	p.R95W	EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.R84W|WDR65_uc001ciq.1_Missense_Mutation_p.R95W	NM_152498	NP_689711	Q96MR6	WDR65_HUMAN	WD repeat domain 65	95										skin(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CATCCCTTGCCGGAAGCGCAA	0.448													T	43647330	C	T	43647330	3	4	60	1	0	0	0	0	1	0	0	0	17313	643	23	1	289	1	WDR65	1	43647330	Missense_Mutation	SNP	C	TCGA-BR-8058-01A-31D-2340-08	17457600	43647330	205603291	3	43732											
PTGFR	5737	broad.mit.edu	37	chr1	78958499	78958499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaacacaacctgccagaCggaaaaccggctttccgtat	7	13	1	1			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr1:78958499C>T	uc001din.2	+	2	337	c.71C>T	c.(70-72)ACG>ATG	p.T24M	PTGFR_uc001dim.2_Missense_Mutation_p.T24M	NM_000959	NP_000950	P43088	PF2R_HUMAN	prostaglandin F receptor isoform a precursor	24	Extracellular (Potential).				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			ovary(3)|breast(2)|skin(1)	6				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	ACCTGCCAGACGGAAAACCGG	0.448													T	78958499	C	T	78958499	3	4	60	1	0	0	0	0	1	0	0	0	12749	536	19	1	73	1	PTGFR	1	78958499	Missense_Mutation	SNP	C	TCGA-BR-8058-01A-31D-2340-08	35311169	78958499	170292122	4	43733											
RPL5	6125	broad.mit.edu	37	chr1	93301861	93301861	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtgccttcacctgctatttgGatgcaggccttgccagaact	10	12	1	1			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr1:93301861G>C	uc001doz.2	+	5	517	c.439G>C	c.(439-441)GAT>CAT	p.D147H	FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_Missense_Mutation_p.D97H|RPL5_uc001dpd.2_5'UTR|SNORD21_uc001dpe.2_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	ribosomal protein L5	147					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome				0		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		CTGCTATTTGGATGCAGGCCT	0.488													C	93301861	G	C	93301861	3	2	60	1	0	0	0	0	1	0	0	0	13597	1174	41	5	457	5	RPL5	1	93301861	Missense_Mutation	SNP	G	TCGA-BR-8058-01A-31D-2340-08	14343362	93301861	155948760	5	43734											
SCN7A	6332	broad.mit.edu	37	chr2	167262220	167262220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtcatttcgcctcaagCggtaatttttataagcacgt	7	8	2	0			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr2:167262220C>T	uc002udu.1	-	25	5046	c.4919G>A	c.(4918-4920)CGC>CAC	p.R1640H		NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	1640					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						TCGCCTCAAGCGGTAATTTTT	0.368													T	167262220	C	T	167262220	3	4	60	1	0	0	0	0	1	0	0	0	13923	768	27	1	133	1	SCN7A	2	167262220	Missense_Mutation	SNP	C	TCGA-BR-8058-01A-31D-2340-08		167262220	75937153	6	43735											
FAM3D	131177	broad.mit.edu	37	chr3	58625893	58625893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccttctgtcccagcacagCtcccgtggttcctaggggtt	11	14	1	0			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr3:58625893C>T	uc003dkq.2	-	7	631	c.334G>A	c.(334-336)GCT>ACT	p.A112T		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	112					negative regulation of insulin secretion	extracellular region	cytokine activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CCCAGCACAGCTCCCGTGGTT	0.532													T	58625893	C	T	58625893	3	4	60	1	0	0	0	0	1	0	0	0	5559	797	28	2	356	2	FAM3D	3	58625893	Missense_Mutation	SNP	C	TCGA-BR-8058-01A-31D-2340-08		58625893	139396537	7	43736											
ACAD11	84129	broad.mit.edu	37	chr3	132350306	132350306	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgacagctcccaatccagCactgctataactcgacactg	7	14	0	1			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr3:132350306C>T	uc003eov.3	-	6	1100	c.720G>A	c.(718-720)GTG>GTA	p.V240V	ACAD11_uc003eoy.2_Silent_p.V240V	NM_032169	NP_115545	Q709F0	ACD11_HUMAN	putative acyl-CoA dehydrogenase	240						peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups			ovary(1)	1						CCCAATCCAGCACTGCTATAA	0.343													T	132350306	C	T	132350306	2	4	60	1	0	0	0	0	0	0	0	1	109	697	25	2		2	ACAD11	3	132350306	Silent	SNP	C	TCGA-BR-8058-01A-31D-2340-08	73724413	132350306	65672124	8	43737											
PDE4D	5144	broad.mit.edu	37	chr5	58273028	58273028	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctacttacgatgtcaatgAccattttccttaaagattgt	6	8	1	2			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr5:58273028A>G	uc003jsa.2	-	12	1869	c.1697T>C	c.(1696-1698)GTC>GCC	p.V566A	PDE4D_uc003jrx.2_Missense_Mutation_p.V430A|PDE4D_uc003jry.2_Missense_Mutation_p.V264A|PDE4D_uc003jrz.2_Missense_Mutation_p.V502A|PDE4D_uc003jsb.2_Missense_Mutation_p.V505A|PDE4D_uc003jrt.2_Missense_Mutation_p.V264A|PDE4D_uc003jru.2_Missense_Mutation_p.V342A|PDE4D_uc003jrv.2_Missense_Mutation_p.V436A|PDE4D_uc003jrw.2_Missense_Mutation_p.V444A|PDE4D_uc003jrs.2_Missense_Mutation_p.V275A	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	phosphodiesterase 4D isoform 1	566					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	GATGTCAATGACCATTTTCCT	0.338													G	58273028	A	G	58273028	3	3	60	1	0	0	0	0	1	0	0	0	11642	275	10	3	748	3	PDE4D	5	58273028	Missense_Mutation	SNP	A	TCGA-BR-8058-01A-31D-2340-08		58273028	122642232	9	43738											
F2R	2149	broad.mit.edu	37	chr5	76029103	76029103	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accacagaggctgcctacttTgcctacctcctctgtgtctg	8	15	2	1			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr5:76029103T>A	uc003ken.3	+	2	1318	c.1053T>A	c.(1051-1053)TTT>TTA	p.F351L		NM_001992	NP_001983	P25116	PAR1_HUMAN	coagulation factor II receptor precursor	351	Helical; Name=7; (Potential).				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			ovary(3)	3		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CTGCCTACTTTGCCTACCTCC	0.488													A	76029103	T	A	76029103	3	1	60	1	0	0	0	0	1	0	0	0	5343	1809	63	5	1059	5	F2R	5	76029103	Missense_Mutation	SNP	T	TCGA-BR-8058-01A-31D-2340-08	17756075	76029103	104886157	10	43739											
CDHR2	54825	broad.mit.edu	37	chr5	176017146	176017146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggacatagattctgcagctCggtgagtgcccagaggcctg	14	10	1	3			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr5:176017146C>T	uc003mem.1	+	25	3340	c.3274C>T	c.(3274-3276)CGG>TGG	p.R1092W	CDHR2_uc003men.1_Missense_Mutation_p.R1092W	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	1092	Extracellular (Potential).				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						TTCTGCAGCTCGGTGAGTGCC	0.587													T	176017146	C	T	176017146	3	4	60	1	0	0	0	0	1	0	0	0	3119	898	31	1	3368	1	CDHR2	5	176017146	Missense_Mutation	SNP	C	TCGA-BR-8058-01A-31D-2340-08	99988043	176017146	4898114	11	43740											
IRF4	3662	broad.mit.edu	37	chr6	401655	401655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccccgacgggctctatgCgaaaagactgtgccagagca	13	13	1	2			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr6:401655C>T	uc003msz.3	+	7	1090	c.977C>T	c.(976-978)GCG>GTG	p.A326V	IRF4_uc010jne.1_Missense_Mutation_p.A326V|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.A325V|IRF4_uc003mtc.1_Missense_Mutation_p.A156V	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	326					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GGGCTCTATGCGAAAAGACTG	0.602			T	IGH@	MM 								T	401655	C	T	401655	3	4	60	1	0	0	0	0	1	0	0	0	7832	768	27	1	999	1	IRF4	6	401655	Missense_Mutation	SNP	C	TCGA-BR-8058-01A-31D-2340-08		401655	170713412	12	43741											
ORC3L	23595	broad.mit.edu	37	chr6	88318928	88318928	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgccacaaaagtactacaaGacttcataattatcagcagg	6	9	2	1			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr6:88318928G>C	uc003pmh.2	+	7	738	c.694G>C	c.(694-696)GAC>CAC	p.D232H	ORC3L_uc011dzl.1_Missense_Mutation_p.D232H|ORC3L_uc011dzm.1_Missense_Mutation_p.D232H|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Missense_Mutation_p.D232H|ORC3L_uc003pmi.2_Missense_Mutation_p.D232H|ORC3L_uc011dzo.1_Missense_Mutation_p.D89H|ORC3L_uc011dzp.1_Missense_Mutation_p.D89H	NM_012381	NP_036513	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3 isoform 2	232					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.0469)		AGTACTACAAGACTTCATAAT	0.348													C	88318928	G	C	88318928	3	2	60	1	0	0	0	0	1	0	0	0	11263	942	33	5	720	5	ORC3L	6	88318928	Missense_Mutation	SNP	G	TCGA-BR-8058-01A-31D-2340-08	87917273	88318928	82796139	13	43742											
AMZ1	155185	broad.mit.edu	37	chr7	2740225	2740225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctcttcctggccgaggCctacaacccgcagaggacgc	13	16	1	1			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr7:2740225C>T	uc003smr.1	+	2	501	c.140C>T	c.(139-141)GCC>GTC	p.A47V	AMZ1_uc003sms.1_Missense_Mutation_p.A47V|AMZ1_uc011jwa.1_5'Flank	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	47							metallopeptidase activity|zinc ion binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CTGGCCGAGGCCTACAACCCG	0.667													T	2740225	C	T	2740225	3	4	60	1	0	0	0	0	1	0	0	0	596	739	26	2	142	2	AMZ1	7	2740225	Missense_Mutation	SNP	C	TCGA-BR-8058-01A-31D-2340-08		2740225	156398438	14	43743											
PLXNA4	91584	broad.mit.edu	37	chr7	131883272	131883272	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agggatgtaaccatccactaAagggctgcactccacgccag	10	13	0	0			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr7:131883272A>C	uc003vra.3	-	13	2939	c.2710T>G	c.(2710-2712)TTA>GTA	p.L904V		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	904	IPT/TIG 1.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						CCATCCACTAAAGGGCTGCAC	0.562													C	131883272	A	C	131883272	3	2	60	1	0	0	0	0	1	0	0	0	12122	11	1	5	3054	5	PLXNA4	7	131883272	Missense_Mutation	SNP	A	TCGA-BR-8058-01A-31D-2340-08	129143047	131883272	27255391	15	43744											
SSPO	23145	broad.mit.edu	37	chr7	149498906	149498906	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcatgatgcctaccatggCcctgcctgggcttccagcct	9	16	1	1			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr7:149498906C>A	uc010lpk.2	+	51	7358	c.7358C>A	c.(7357-7359)GCC>GAC	p.A2453D		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2453					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTACCATGGCCCTGCCTGGG	0.622													A	149498906	C	A	149498906	3	1	60	1	0	0	0	0	1	0	0	0	15188	739	26	5	7552	5	SSPO	7	149498906	Missense_Mutation	SNP	C	TCGA-BR-8058-01A-31D-2340-08	17615634	149498906	9639757	16	43745											
PENK	5179	broad.mit.edu	37	chr8	57354302	57354302	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taaagctcatccattttcttCatgaagcctccatacctttt	3	12	3	1			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr8:57354302C>A	uc003xsz.2	-	2	414	c.333G>T	c.(331-333)ATG>ATT	p.M111I	PENK_uc003xta.3_Missense_Mutation_p.M111I	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	111					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCATTTTCTTCATGAAGCCTC	0.488													A	57354302	C	A	57354302	3	1	60	1	0	0	0	0	1	0	0	0	11727	826	29	5	474	5	PENK	8	57354302	Missense_Mutation	SNP	C	TCGA-BR-8058-01A-31D-2340-08		57354302	89009720	17	43746											
SULF1	23213	broad.mit.edu	37	chr8	70488242	70488242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaaaacgagaaagattatGgaacatgggggggccacctt	12	7	0	2			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr8:70488242G>A	uc010lza.1	+	6	927	c.210G>A	c.(208-210)ATG>ATA	p.M70I	SULF1_uc003xyd.2_Missense_Mutation_p.M70I|SULF1_uc003xye.2_Missense_Mutation_p.M70I|SULF1_uc003xyf.2_Missense_Mutation_p.M70I|SULF1_uc003xyg.2_Missense_Mutation_p.M70I	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	70					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GAAAGATTATGGAACATGGGG	0.498													A	70488242	G	A	70488242	3	1	60	1	0	0	0	0	1	0	0	0	15369	1348	47	4	216	4	SULF1	8	70488242	Missense_Mutation	SNP	G	TCGA-BR-8058-01A-31D-2340-08	13133940	70488242	75875780	18	43747											
ZNF572	137209	broad.mit.edu	37	chr8	125989941	125989941	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accagctgtgagaaatgcttCagcagaagtgcctacctcag	10	11	2	2			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr8:125989941C>T	uc003yrr.2	+	3	1586	c.1431C>T	c.(1429-1431)TTC>TTT	p.F477F		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	477	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGAAATGCTTCAGCAGAAGTG	0.458										HNSCC(60;0.17)			T	125989941	C	T	125989941	2	4	60	1	0	0	0	0	0	0	0	1	18001	825	29	4		4	ZNF572	8	125989941	Silent	SNP	C	TCGA-BR-8058-01A-31D-2340-08	55501699	125989941	20374081	19	43748											
MLLT3	4300	broad.mit.edu	37	chr9	20346483	20346483	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtaactctgtagtttacgGactgtggttttgtccagcga	12	7	1	0			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr9:20346483G>A	uc003zoe.2	-	11	1924	c.1665C>T	c.(1663-1665)GTC>GTT	p.V555V	MLLT3_uc011lne.1_Silent_p.V523V|MLLT3_uc011lnf.1_Silent_p.V552V	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		GTAGTTTACGGACTGTGGTTT	0.353			T	MLL	ALL								A	20346483	G	A	20346483	2	1	60	1	0	0	0	0	0	0	0	1	9628	1161	41	4		4	MLLT3	9	20346483	Silent	SNP	G	TCGA-BR-8058-01A-31D-2340-08		20346483	120866948	20	43749											
TOPORS	10210	broad.mit.edu	37	chr9	32543727	32543727	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatatttctaactcgagcacCagcacgataaagagttcgtc	7	10	1	1			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr9:32543727C>G	uc003zrb.2	-	3	963	c.796G>C	c.(796-798)GGT>CGT	p.G266R	TOPORS_uc003zrc.2_Missense_Mutation_p.G199R	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	266	Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ACTCGAGCACCAGCACGATAA	0.413													G	32543727	C	G	32543727	3	3	60	1	0	0	0	0	1	0	0	0	16367	594	21	5	2345	5	TOPORS	9	32543727	Missense_Mutation	SNP	C	TCGA-BR-8058-01A-31D-2340-08	12197244	32543727	108669704	21	43750											
DBC1	1620	broad.mit.edu	37	chr9	121929759	121929759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccctggccagtctcatttCgcagtagggtaggtagccga	14	11	1	0	rs151087333		TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr9:121929759C>T	uc004bkc.2	-	8	2345	c.1889G>A	c.(1888-1890)CGA>CAA	p.R630Q		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	630					cell cycle arrest|cell death	cytoplasm	protein binding	p.R630Q(1)		skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						AGTCTCATTTCGCAGTAGGGT	0.537													T	121929759	C	T	121929759	3	4	60	1	0	0	0	0	1	0	0	0	4247	884	31	1	400	1	DBC1	9	121929759	Missense_Mutation	SNP	C	TCGA-BR-8058-01A-31D-2340-08	89386032	121929759	19283672	22	43751											
DDX21	9188	broad.mit.edu	37	chr10	70716038	70716038	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagacaccgcaatgaaaaaAggggagacactgcgaaagca	11	9	1	3			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr10:70716038A>G	uc001jov.1	+	1	147	c.57A>G	c.(55-57)AAA>AAG	p.K19K	DDX21_uc001jow.1_5'Flank	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 21	19						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)	3						CAATGAAAAAAGGGGAGACAC	0.607													G	70716038	A	G	70716038	2	3	60	1	0	0	0	0	0	0	0	1	4349	69	3	3		3	DDX21	10	70716038	Silent	SNP	A	TCGA-BR-8058-01A-31D-2340-08		70716038	64818709	23	43752											
PRF1	5551	broad.mit.edu	37	chr10	72360571	72360571	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cttgtggctgcgcttgcactCtgagcgtgcggctgtgtggc	16	11	1	1			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr10:72360571C>G	uc009xqg.2	-	2	249	c.88G>C	c.(88-90)GAG>CAG	p.E30Q	PRF1_uc001jrf.3_Missense_Mutation_p.E30Q	NM_001083116	NP_001076585	P14222	PERF_HUMAN	perforin 1 precursor	30	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						CGCTTGCACTCTGAGCGTGCG	0.687			M			various leukaemia|lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial_Hemophagocytic_Lymphohistiocytosis				G	72360571	C	G	72360571	3	3	60	1	0	0	0	0	1	0	0	0	12478	922	32	5	1587	5	PRF1	10	72360571	Missense_Mutation	SNP	C	TCGA-BR-8058-01A-31D-2340-08	1644533	72360571	63174176	24	43753											
OR51G2	81282	broad.mit.edu	37	chr11	4936743	4936743	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctctgttttaatgataaaaaGaattgtgcagttgcccggga	10	6	1	2			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr11:4936743G>C	uc001lzr.1	-	1	151	c.151C>G	c.(151-153)CTT>GTT	p.L51V		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	51	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGATAAAAAGAATTGTGCAG	0.512													C	4936743	G	C	4936743	3	2	60	1	0	0	0	0	1	0	0	0	11099	942	33	5	797	5	OR51G2	11	4936743	Missense_Mutation	SNP	G	TCGA-BR-8058-01A-31D-2340-08		4936743	130069773	25	43754											
DENND5A	23258	broad.mit.edu	37	chr11	9225374	9225374	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccatagaccccagaaaacTtcaaggaccggccaggaggt	11	13	1	2			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr11:9225374T>G	uc001mhl.2	-	4	1037	c.782A>C	c.(781-783)AAG>ACG	p.K261T	DENND5A_uc010rbw.1_Missense_Mutation_p.K261T|DENND5A_uc010rbx.1_RNA	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	261	DENN.									liver(1)	1						CCCAGAAAACTTCAAGGACCG	0.532													G	9225374	T	G	9225374	3	3	60	1	0	0	0	0	1	0	0	0	4436	1609	56	5	3161	5	DENND5A	11	9225374	Missense_Mutation	SNP	T	TCGA-BR-8058-01A-31D-2340-08	4288631	9225374	125781142	26	43755											
OR4C15	81309	broad.mit.edu	37	chr11	55321938	55321938	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggagctttcatcttttccttGggaaacatgcaaaaccaaag	8	9	2	0			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr11:55321938G>C	uc010rig.1	+	1	156	c.156G>C	c.(154-156)TTG>TTC	p.L52F		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	Error:Variant_position_missing_in_Q8NGM1_after_alignment					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TCTTTTCCTTGGGAAACATGC	0.358										HNSCC(20;0.049)			C	55321938	G	C	55321938	3	2	60	1	0	0	0	0	1	0	0	0	11048	1339	47	5	158	5	OR4C15	11	55321938	Missense_Mutation	SNP	G	TCGA-BR-8058-01A-31D-2340-08	46096564	55321938	79684578	27	43756											
RTN4RL2	349667	broad.mit.edu	37	chr11	57244172	57244175	+	Frame_Shift_Del	DEL	CTGC	CTGC	-													cctccaccctctaccgagatCtgcctgccgaagactcgcgg							TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr11:57244172_57244175delCTGC	uc010rjt.1	+	3	1051_1054	c.1051_1054delCTGC	c.(1051-1056)CTGCCTfs	p.L351fs		NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2 precursor	351_352					axon regeneration	anchored to plasma membrane	receptor activity				0						CTACCGAGATCTGCCTGCCGAAGA	0.632													-	57244175	CTGC	-	57244172	7	5	60	1	0	1	0	1	0	0	0	0	13732	912	32	0	1061	0	RTN4RL2	11	57244172	Frame_Shift_Del	DEL	CTGC	TCGA-BR-8058-01A-31D-2340-08	1922234	57244172	77762344	28	43757											
SHANK2	22941	broad.mit.edu	37	chr11	70332306	70332306	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcacggtggtgggctcgggGgcagcggagatctgtaaagc	20	8	1	1			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr11:70332306G>C	uc001oqc.2	-	21	4170	c.4092C>G	c.(4090-4092)GCC>GCG	p.A1364A	SHANK2_uc010rqn.1_Silent_p.A776A|SHANK2_uc001opz.2_Silent_p.A769A|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	985					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGGGCTCGGGGGCAGCGGAGA	0.622													C	70332306	G	C	70332306	2	2	60	1	0	0	0	0	0	0	0	1	14265	1219	43	5		5	SHANK2	11	70332306	Silent	SNP	G	TCGA-BR-8058-01A-31D-2340-08	13088134	70332306	64674210	29	43758											
PCF11	51585	broad.mit.edu	37	chr11	82868552	82868552	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgcctgtcgggattatcagtCatcgctcgaagacctgacct	10	13	2	2			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr11:82868552C>G	uc001ozx.3	+	1	416	c.71C>G	c.(70-72)TCA>TGA	p.S24*	PCF11_uc010rsu.1_Nonsense_Mutation_p.S24*|PCF11_uc001ozy.2_Nonsense_Mutation_p.S24*	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	24	CID.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						GATTATCAGTCATCGCTCGAA	0.637													G	82868552	C	G	82868552	4	3	60	1	0	0	0	0	0	1	0	0	11573	838	29	5	73	5	PCF11	11	82868552	Nonsense_Mutation	SNP	C	TCGA-BR-8058-01A-31D-2340-08	12536246	82868552	52137964	30	43759			1	16		3	2	41	N	C	7.235641e-05
PCF11	51585	broad.mit.edu	37	chr11	82868584	82868584	+	Missense_Mutation	SNP	C	C	G													acctgaccttcaatagcaagCcgcacatcaatatgctgacc							TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr11:82868584C>G	uc001ozx.3	+	1	448	c.103C>G	c.(103-105)CCG>GCG	p.P35A	PCF11_uc010rsu.1_Missense_Mutation_p.P35A|PCF11_uc001ozy.2_Missense_Mutation_p.P35A	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	35	CID.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						CAATAGCAAGCCGCACATCAA	0.587													G	82868584	C	G	82868584	3	3	60	1	0	0	0	0	1	0	0	0	11573	739	26	5	105	5	PCF11	11	82868584	Missense_Mutation	SNP	C	TCGA-BR-8058-01A-31D-2340-08	32	82868584	52137932	31	43760	154	2	1	16		3	2	41	N	C	7.235641e-05
PCF11	51585	broad.mit.edu	37	chr11	82868592	82868592	+	Silent	SNP	C	C	T													ttcaatagcaagccgcacatCaatatgctgaccattctagc							TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr11:82868592C>T	uc001ozx.3	+	1	456	c.111C>T	c.(109-111)ATC>ATT	p.I37I	PCF11_uc010rsu.1_Silent_p.I37I|PCF11_uc001ozy.2_Silent_p.I37I	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	37	CID.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						AGCCGCACATCAATATGCTGA	0.597													T	82868592	C	T	82868592	2	4	60	1	0	0	0	0	0	0	0	1	11573	816	29	4		4	PCF11	11	82868592	Silent	SNP	C	TCGA-BR-8058-01A-31D-2340-08	8	82868592	52137924	32	43761	154	2	1	16		3	2	41	N	C	7.235641e-05
SIK3	23387	broad.mit.edu	37	chr11	116730231	116730231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaagcaggttagtgccaCgttgggaggagaggaacagt	15	8	0	1			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr11:116730231C>T	uc001ppy.2	-	19	2233	c.2197G>A	c.(2197-2199)GTG>ATG	p.V733M	SIK3_uc001ppz.2_Missense_Mutation_p.V632M|SIK3_uc001pqa.2_Missense_Mutation_p.V733M|SIK3_uc001ppw.2_Missense_Mutation_p.V150M|SIK3_uc001ppx.2_Missense_Mutation_p.V171M|SIK3_uc001pqb.2_Missense_Mutation_p.V36M	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	733	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						GTTAGTGCCACGTTGGGAGGA	0.542											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	116730231	C	T	116730231	3	4	60	1	0	0	0	0	1	0	0	0	14319	536	19	1	1614	1	SIK3	11	116730231	Missense_Mutation	SNP	C	TCGA-BR-8058-01A-31D-2340-08	33861639	116730231	18276285	33	43762											
VWF	7450	broad.mit.edu	37	chr12	6128084	6128084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgatccttccaggacgaaCgccacatccagaaccatgga	8	15	0	1			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr12:6128084C>T	uc001qnn.1	-	28	4750	c.4500G>A	c.(4498-4500)GCG>GCA	p.A1500A	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1500	VWFA 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CCAGGACGAACGCCACATCCA	0.587													T	6128084	C	T	6128084	2	4	60	1	0	0	0	0	0	0	0	1	17243	523	19	1		1	VWF	12	6128084	Silent	SNP	C	TCGA-BR-8058-01A-31D-2340-08		6128084	127723811	34	43763											
PRB2	653247	broad.mit.edu	37	chr12	11546419	11546421	+	In_Frame_Del	DEL	GGA	GGA	-													gtggtccttgtggctttcctGgaggaggtgggggaccttgg							TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr12:11546418_11546420TGGA>T	uc010shk.1	-	2	627_629	c.592_594TCCA>A	c.(592-594)cca>A	p.P198del		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTGGCTTTCCTGGAGGAGGTGGG	0.586													-	11546421	GGA	-	11546419	7	5	60	1	0	1	0	1	0	0	0	0	12443	1348	47	0	661	0	PRB2	12	11546419	In_Frame_Del	DEL	GGA	TCGA-BR-8058-01A-31D-2340-08	5418335	11546419	122305476	35	43764											
FREM2	341640	broad.mit.edu	37	chr13	39264487	39264487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaatggcattccagcagaGcagtttactcaaagggacat	10	9	2	1			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr13:39264487G>A	uc001uwv.2	+	1	3315	c.3006G>A	c.(3004-3006)GAG>GAA	p.E1002E		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1002	CSPG 6.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTCCAGCAGAGCAGTTTACTC	0.453													A	39264487	G	A	39264487	2	1	60	1	0	0	0	0	0	0	0	1	6045	962	34	2		2	FREM2	13	39264487	Silent	SNP	G	TCGA-BR-8058-01A-31D-2340-08		39264487	75905391	36	43765											
INTS6	26512	broad.mit.edu	37	chr13	51956203	51956203	+	Frame_Shift_Del	DEL	C	C	-													cattgtcttcaaataactttCaaatgactgtctccacttca							TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr13:51956203delC	uc001vfk.2	-	10	1851	c.1237delG	c.(1237-1239)GAAfs	p.E413fs	INTS6_uc001vfi.2_Frame_Shift_Del_p.E97fs|INTS6_uc001vfj.2_Frame_Shift_Del_p.E400fs|INTS6_uc001vfl.2_Frame_Shift_Del_p.E235fs	NM_012141	NP_036273	Q9UL03	INT6_HUMAN	integrator complex subunit 6 isoform a	413					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			ovary(1)|lung(1)	2		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		AAATAACTTTCAAATGACTGT	0.259													-	51956203	C	-	51956203	7	5	60	1	0	1	0	1	0	0	0	0	7782	835	29	0	1462	0	INTS6	13	51956203	Frame_Shift_Del	DEL	C	TCGA-BR-8058-01A-31D-2340-08	12691716	51956203	63213675	37	43766											
C14orf106	55320	broad.mit.edu	37	chr14	45693557	45693557	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caattttggtaatagtctggTatttttcttaaagtcagagg	9	4	3	1			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr14:45693557T>C	uc001wwf.2	-	11	2692	c.2233A>G	c.(2233-2235)ACC>GCC	p.T745A		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	745					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						AATAGTCTGGTATTTTTCTTA	0.343													C	45693557	T	C	45693557	3	2	60	1	0	0	0	0	1	0	0	0	1738	1638	57	3	1193	3	C14orf106	14	45693557	Missense_Mutation	SNP	T	TCGA-BR-8058-01A-31D-2340-08		45693557	61655983	38	43767											
SMAD3	4088	broad.mit.edu	37	chr15	67479784	67479784	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagggctttgaggctgtctAccagttgacccgaatgtgca	12	11	1	2			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr15:67479784A>G	uc002aqj.2	+	8	1389	c.1091A>G	c.(1090-1092)TAC>TGC	p.Y364C	SMAD3_uc010ujr.1_Missense_Mutation_p.Y259C|SMAD3_uc010ujs.1_Missense_Mutation_p.Y320C|SMAD3_uc010ujt.1_Missense_Mutation_p.Y169C	NM_005902	NP_005893	P84022	SMAD3_HUMAN	mothers against decapentaplegic homolog 3	364	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GAGGCTGTCTACCAGTTGACC	0.557													G	67479784	A	G	67479784	3	3	60	1	0	0	0	0	1	0	0	0	14759	391	14	3	1199	3	SMAD3	15	67479784	Missense_Mutation	SNP	A	TCGA-BR-8058-01A-31D-2340-08		67479784	35051608	39	43768											
HAPLN3	145864	broad.mit.edu	37	chr15	89421430	89421430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcatcatcttcctggcagGcctcccttgcctctgtcagc	9	16	4	0			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr15:89421430G>A	uc002bnc.2	-	5	982	c.854C>T	c.(853-855)GCC>GTC	p.A285V	HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Missense_Mutation_p.A347V	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	285	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	Lung NSC(78;0.0392)|all_lung(78;0.077)					TTCCTGGCAGGCCTCCCTTGC	0.652													A	89421430	G	A	89421430	3	1	60	1	0	0	0	0	1	0	0	0	6956	1203	42	2	232	2	HAPLN3	15	89421430	Missense_Mutation	SNP	G	TCGA-BR-8058-01A-31D-2340-08	21941646	89421430	13109962	40	43769											
ALDH1A3	220	broad.mit.edu	37	chr15	101447328	101447328	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcaattaatcatagatTttcgggccagtgcaaccaat	7	9	2	1			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr15:101447328T>G	uc002bwn.3	+	11	1340	c.1236T>G	c.(1234-1236)ATT>ATG	p.I412M	ALDH1A3_uc010bpb.2_Missense_Mutation_p.I305M|uc002bwo.1_Intron	NM_000693	NP_000684	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1A3	412					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			central_nervous_system(2)|lung(1)|pancreas(1)	4	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	AATCATAGATTTTCGGGCCAG	0.408													G	101447328	T	G	101447328	3	3	60	1	0	0	0	0	1	0	0	0	492	1829	64	5	1278	5	ALDH1A3	15	101447328	Missense_Mutation	SNP	T	TCGA-BR-8058-01A-31D-2340-08	12025898	101447328	1084064	41	43770											
SLC7A6	9057	broad.mit.edu	37	chr16	68330347	68330347	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agcttcagctactggttcttCgtgggcctgtctgttgttgg	13	9	3	0	rs149574667		TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr16:68330347C>A	uc002evt.1	+	10	1509	c.1200C>A	c.(1198-1200)TTC>TTA	p.F400L	SLC7A6_uc002evu.1_Missense_Mutation_p.F400L|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA	NM_001076785	NP_001070253	Q92536	YLAT2_HUMAN	solute carrier family 7 (cationic amino acid	400	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		ACTGGTTCTTCGTGGGCCTGT	0.577													A	68330347	C	A	68330347	3	1	60	1	0	0	0	0	1	0	0	0	14701	883	31	5	1226	5	SLC7A6	16	68330347	Missense_Mutation	SNP	C	TCGA-BR-8058-01A-31D-2340-08		68330347	22024406	42	43771											
CDH1	999	broad.mit.edu	37	chr16	68844172	68844172	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agattttgatcacggtaaccGatcagaatgacaacaagccc	8	10	2	4			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr16:68844172G>T	uc002ewg.1	+	6	884	c.760G>T	c.(760-762)GAT>TAT	p.D254Y	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.D254Y	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	254	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)|p.D254fs*9(1)|p.D254H(1)|p.D254Y(1)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CACGGTAACCGATCAGAATGA	0.468			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				T	68844172	G	T	68844172	3	4	60	1	0	0	0	0	1	0	0	0	3095	1058	37	5	782	5	CDH1	16	68844172	Missense_Mutation	SNP	G	TCGA-BR-8058-01A-31D-2340-08	513825	68844172	21510581	43	43772											
GAN	8139	broad.mit.edu	37	chr16	81399030	81399030	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagtcgtgaggacgcccaGggtagcgagatggtaacttg	16	8	0	2			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr16:81399030G>A	uc002fgo.2	+	9	1597	c.1449G>A	c.(1447-1449)CAG>CAA	p.Q483Q		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	gigaxonin	483	Kelch 5.				cell death	cytoplasm|neurofilament	protein binding			ovary(2)	2		Colorectal(91;0.153)				AGGACGCCCAGGGTAGCGAGA	0.488													A	81399030	G	A	81399030	2	1	60	1	0	0	0	0	0	0	0	1	6232	991	35	4		4	GAN	16	81399030	Silent	SNP	G	TCGA-BR-8058-01A-31D-2340-08	12554858	81399030	8955723	44	43773											
SLC13A5	284111	broad.mit.edu	37	chr17	6607292	6607292	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaatatggcctccacgAtgggcaccatcatggccgtg	12	13	1	0			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr17:6607292A>T	uc002gdj.2	-	4	540	c.452T>A	c.(451-453)ATC>AAC	p.I151N	SLC13A5_uc010vtf.1_Missense_Mutation_p.I151N|SLC13A5_uc010clq.2_Missense_Mutation_p.I108N|SLC13A5_uc002gdk.2_Missense_Mutation_p.I134N|SLC13A5_uc002gdl.1_Missense_Mutation_p.I133N	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	solute carrier family 13, member 5 isoform a	151						integral to membrane	citrate transmembrane transporter activity				0						GGCCTCCACGATGGGCACCAT	0.632													T	6607292	A	T	6607292	3	4	60	1	0	0	0	0	1	0	0	0	14395	333	12	5	1290	5	SLC13A5	17	6607292	Missense_Mutation	SNP	A	TCGA-BR-8058-01A-31D-2340-08		6607292	74587918	45	43774											
RGS9	8787	broad.mit.edu	37	chr17	63221598	63221598	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgattgaaatccaagagagTagcaaagtaagaacccgaag	10	7	0	3			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr17:63221598T>C	uc002jfe.2	+	18	1996	c.1886T>C	c.(1885-1887)GTA>GCA	p.V629A	RGS9_uc010dem.2_Missense_Mutation_p.V626A|RGS9_uc002jfd.2_Missense_Mutation_p.V626A|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.V400A	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	629					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4						TCCAAGAGAGTAGCAAAGTAA	0.607													C	63221598	T	C	63221598	3	2	60	1	0	0	0	0	1	0	0	0	13313	1638	57	3	2011	3	RGS9	17	63221598	Missense_Mutation	SNP	T	TCGA-BR-8058-01A-31D-2340-08	56614306	63221598	17973612	46	43775											
DCC	1630	broad.mit.edu	37	chr18	50592506	50592506	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaggctggaaatgcccagAccagtgcacagctcattgtc	11	11	1	2			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr18:50592506A>G	uc002lfe.1	+	7	1818	c.1231A>G	c.(1231-1233)ACC>GCC	p.T411A	DCC_uc010xdr.1_Missense_Mutation_p.T259A|DCC_uc010dpf.1_Missense_Mutation_p.T66A	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	411	Extracellular (Potential).|Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAATGCCCAGACCAGTGCACA	0.443													G	50592506	A	G	50592506	3	3	60	1	0	0	0	0	1	0	0	0	4282	275	10	3	1257	3	DCC	18	50592506	Missense_Mutation	SNP	A	TCGA-BR-8058-01A-31D-2340-08		50592506	27484742	47	43776											
EEF2	1938	broad.mit.edu	37	chr19	3982022	3982022	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggctggtggctgacttgcTgaacttgccgttggctgggt	18	8	0	2			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr19:3982022T>C	uc002lze.2	-	6	903	c.820A>G	c.(820-822)AGC>GGC	p.S274G		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	274						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGACTTGCTGAACTTGCCG	0.602													C	3982022	T	C	3982022	3	2	60	1	0	0	0	0	1	0	0	0	4929	1580	55	3	1796	3	EEF2	19	3982022	Missense_Mutation	SNP	T	TCGA-BR-8058-01A-31D-2340-08		3982022	55146961	48	43777											
ZNF93	81931	broad.mit.edu	37	chr19	20045214	20045214	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagagaaaccctacaaatgtGaagaatgtggcaaagctttt	10	6	0	3			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr19:20045214G>A	uc002non.2	+	4	1561	c.1450G>A	c.(1450-1452)GAA>AAA	p.E484K		NM_031218	NP_112495	P35789	ZNF93_HUMAN	zinc finger protein 93	484	C2H2-type 13.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1						CTACAAATGTGAAGAATGTGG	0.383													A	20045214	G	A	20045214	3	1	60	1	0	0	0	0	1	0	0	0	18199	1291	45	4	1464	4	ZNF93	19	20045214	Missense_Mutation	SNP	G	TCGA-BR-8058-01A-31D-2340-08	16063192	20045214	39083769	49	43778											
RBM42	79171	broad.mit.edu	37	chr19	36128216	36128216	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcttcgtcagcttcaaggAccccagcgactacgtgcgcg	12	15	2	0			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr19:36128216A>G	uc002oan.2	+	9	1368	c.1292A>G	c.(1291-1293)GAC>GGC	p.D431G	RBM42_uc010eef.2_Missense_Mutation_p.D377G|RBM42_uc002oao.2_Missense_Mutation_p.D409G|RBM42_uc002oap.2_Missense_Mutation_p.D401G|RBM42_uc002oaq.2_Missense_Mutation_p.D402G|RBM42_uc010eeg.2_Intron	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	431	Necessary for interaction with HNRNPK (By similarity).|RRM.					cytoplasm|nucleus	nucleotide binding|RNA binding				0	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGCTTCAAGGACCCCAGCGAC	0.647													G	36128216	A	G	36128216	3	3	60	1	0	0	0	0	1	0	0	0	13136	275	10	3	1326	3	RBM42	19	36128216	Missense_Mutation	SNP	A	TCGA-BR-8058-01A-31D-2340-08	16083002	36128216	23000767	50	43779											
ELFN2	114794	broad.mit.edu	37	chr22	37771219	37771219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcgcagcatgccctccGtcaggttgctgagcttgttg	12	13	1	1			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr22:37771219G>A	uc003asq.3	-	3	1142	c.356C>T	c.(355-357)ACG>ATG	p.T119M		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	119	LRR 3.|Extracellular (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					CATGCCCTCCGTCAGGTTGCT	0.622													A	37771219	G	A	37771219	3	1	60	1	0	0	0	0	1	0	0	0	5058	1145	40	1	2110	1	ELFN2	22	37771219	Missense_Mutation	SNP	G	TCGA-BR-8058-01A-31D-2340-08		37771219	13533347	51	43780											
CARD10	29775	broad.mit.edu	37	chr22	37903838	37903838	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacgcaggctgggctcacctGgtctcgctccttctcaatct	9	16	4	0			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr22:37903838G>C	uc003asx.1	-	6	1192	c.1189C>G	c.(1189-1191)CAG>GAG	p.Q397E	CARD10_uc003ast.1_RNA|CARD10_uc003asw.1_Missense_Mutation_p.Q111E|CARD10_uc003asy.1_Missense_Mutation_p.Q397E	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	caspase recruitment domain protein 10	397	Potential.				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6	Melanoma(58;0.0574)					GGGCTCACCTGGTCTCGCTCC	0.597													C	37903838	G	C	37903838	3	2	60	1	0	0	0	0	1	0	0	0	2644	1357	47	5	1969	5	CARD10	22	37903838	Missense_Mutation	SNP	G	TCGA-BR-8058-01A-31D-2340-08	132619	37903838	13400728	52	43781											
HDAC10	83933	broad.mit.edu	37	chr22	50686482	50686482	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagggagctcggtgcagatgCagctgccttacacactggac	14	11	0	1			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chr22:50686482C>A	uc003bkg.2	-	13	1547	c.1174G>T	c.(1174-1176)GCA>TCA	p.A392S	HDAC10_uc003bke.2_Missense_Mutation_p.A118S|HDAC10_uc003bkf.2_Missense_Mutation_p.A118S|HDAC10_uc010hav.2_Missense_Mutation_p.A372S|HDAC10_uc003bkh.2_Missense_Mutation_p.A185S|HDAC10_uc003bki.2_Missense_Mutation_p.A342S|HDAC10_uc003bkj.2_RNA|HDAC10_uc003bkk.1_Missense_Mutation_p.A26S	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	histone deacetylase 10 isoform 1	392					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTGCAGATGCAGCTGCCTTA	0.652													A	50686482	C	A	50686482	3	1	60	1	0	0	0	0	1	0	0	0	7005	710	25	5	867	5	HDAC10	22	50686482	Missense_Mutation	SNP	C	TCGA-BR-8058-01A-31D-2340-08	12782644	50686482	618084	53	43782											
CLCN5	1184	broad.mit.edu	37	chrX	49834605	49834605	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttcttggaggagccaatcCctggtgtagggacctatgat	12	9	1	1			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chrX:49834605C>A	uc004dos.1	+	2	273	c.25C>A	c.(25-27)CCT>ACT	p.P9T	CLCN5_uc004dor.1_Missense_Mutation_p.P79T|CLCN5_uc004doq.1_Missense_Mutation_p.P79T|CLCN5_uc004dot.1_Missense_Mutation_p.P9T	NM_000084	NP_000075	P51795	CLCN5_HUMAN	chloride channel 5 isoform b	9	Cytoplasmic (By similarity).				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			ovary(2)|lung(1)|central_nervous_system(1)	4	Ovarian(276;0.236)					GGAGCCAATCCCTGGTGTAGG	0.438													A	49834605	C	A	49834605	3	1	60	1	0	0	0	0	1	0	0	0	3466	623	22	5	245	5	CLCN5	23	49834605	Missense_Mutation	SNP	C	TCGA-BR-8058-01A-31D-2340-08		49834605	105435955	54	43783											
MAGED1	9500	broad.mit.edu	37	chrX	51640687	51640687	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatacactgatgtttatccaGaaatcattgaacgtgcatgc	7	8	1	3			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chrX:51640687G>A	uc004dpm.2	+	6	1626	c.1531G>A	c.(1531-1533)GAA>AAA	p.E511K	MAGED1_uc004dpn.2_Missense_Mutation_p.E567K|MAGED1_uc004dpo.2_Missense_Mutation_p.E511K	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform b	511	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)					TGTTTATCCAGAAATCATTGA	0.493										Multiple Myeloma(10;0.10)			A	51640687	G	A	51640687	3	1	60	1	0	0	0	0	1	0	0	0	9183	943	33	4	1721	4	MAGED1	23	51640687	Missense_Mutation	SNP	G	TCGA-BR-8058-01A-31D-2340-08	1806082	51640687	103629873	55	43784											
ATRX	546	broad.mit.edu	37	chrX	76937284	76937284	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aactttcctcagcatcagatGatgatgagccactttgtatt	7	9	2	4			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chrX:76937284G>C	uc004ecp.3	-	9	3696	c.3464C>G	c.(3463-3465)TCA>TGA	p.S1155*	ATRX_uc004ecq.3_Nonsense_Mutation_p.S1117*|ATRX_uc004eco.3_Nonsense_Mutation_p.S940*|ATRX_uc004ecr.2_Nonsense_Mutation_p.S1087*|ATRX_uc010nlx.1_Nonsense_Mutation_p.S1126*|ATRX_uc010nly.1_Nonsense_Mutation_p.S1100*	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1155	Poly-Ser.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	AGCATCAGATGATGATGAGCC	0.333			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76937284	G	C	76937284	4	2	60	1	0	0	0	0	0	1	0	0	1208	1294	45	5	4122	5	ATRX	23	76937284	Nonsense_Mutation	SNP	G	TCGA-BR-8058-01A-31D-2340-08	25296597	76937284	78333276	56	43785											
FMR1	2332	broad.mit.edu	37	chrX	147007065	147007065	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcttatttacagctggcagCctgataggcagattccattt	9	9	0	2			TCGA-BR-8058-01A-31D-2340-08	TCGA-BR-8058-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0	aee74947-0273-4f36-af55-09bc0df09fb1	g.chrX:147007065C>G	uc010nst.2	+	3	301	c.112C>G	c.(112-114)CCT>GCT	p.P38A	FMR1_uc011mwz.1_Missense_Mutation_p.P38A|FMR1_uc004fcj.2_Missense_Mutation_p.P38A|FMR1_uc004fck.3_Missense_Mutation_p.P38A|FMR1_uc004fcl.3_5'Flank	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	38					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTGGCAGCCTGATAGGCA	0.368									Fragile_X_syndrome				G	147007065	C	G	147007065	3	3	60	1	0	0	0	0	1	0	0	0	5960	739	26	5	122	5	FMR1	23	147007065	Missense_Mutation	SNP	C	TCGA-BR-8058-01A-31D-2340-08	70069781	147007065	8263495	57	43786											
CPSF3L	54973	broad.mit.edu	37	chr1	1254740	1254740	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agtctttgatcatctgggagGtgaagaagttggcctcgccc	13	9	3	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:1254740G>C	uc001aee.1	-	4	423	c.365C>G	c.(364-366)ACC>AGC	p.T122S	CPSF3L_uc009vjy.1_5'Flank|CPSF3L_uc001aef.1_Missense_Mutation_p.T128S|CPSF3L_uc009vjz.1_Missense_Mutation_p.T122S|CPSF3L_uc010nyj.1_Missense_Mutation_p.T93S|CPSF3L_uc001aeg.1_5'UTR|CPSF3L_uc001aeh.1_Intron|CPSF3L_uc001aei.1_Intron|CPSF3L_uc001aej.1_Intron|CPSF3L_uc001aek.1_Intron|CPSF3L_uc001aem.1_Missense_Mutation_p.T122S|CPSF3L_uc001ael.1_Missense_Mutation_p.T40S|CPSF3L_uc001aen.1_3'UTR	NM_017871	NP_060341	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor	122						Golgi apparatus|nucleus	hydrolase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		CATCTGGGAGGTGAAGAAGTT	0.587													C	1254740	G	C	1254740	3	2	61	1	0	0	0	0	1	0	0	0	3827	1261	44	5	1493	5	CPSF3L	1	1254740	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08		1254740	247995881	1	43787											
TAS1R3	83756	broad.mit.edu	37	chr1	1268097	1268097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacgttctctgtctacgcaGctgtgtatagcgtggcccag	12	11	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:1268097G>A	uc010nyk.1	+	3	1186	c.1186G>A	c.(1186-1188)GCT>ACT	p.A396T		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	396	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	TGTCTACGCAGCTGTGTATAG	0.652													A	1268097	G	A	1268097	3	1	61	1	0	0	0	0	1	0	0	0	15561	971	34	2	1196	2	TAS1R3	1	1268097	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	13357	1268097	247982524	2	43788											
CCNL2	81669	broad.mit.edu	37	chr1	1322784	1322784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgagaacgggaagaactccGgctccgagacttgtgtggct	14	10	0	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:1322784G>A	uc001afi.2	-	11	1422	c.1390C>T	c.(1390-1392)CGG>TGG	p.R464W	CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Missense_Mutation_p.R242W|CCNL2_uc001afg.1_Missense_Mutation_p.R242W|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	cyclin L2 isoform A	464					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GAAGAACTCCGGCTCCGAGAC	0.577													A	1322784	G	A	1322784	3	1	61	1	0	0	0	0	1	0	0	0	2932	1115	39	1	176	1	CCNL2	1	1322784	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	54687	1322784	247927837	3	43789											
KIAA1751	85452	broad.mit.edu	37	chr1	1916826	1916826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggctgcacaccgactcactCgctctccttcagcacggcct	8	19	3	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:1916826C>T	uc001aim.1	-	6	655	c.499G>A	c.(499-501)GAG>AAG	p.E167K	KIAA1751_uc009vkz.1_Missense_Mutation_p.E167K|KIAA1751_uc001ain.1_Missense_Mutation_p.E167K	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	167										pancreas(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CCGACTCACTCGCTCTCCTTC	0.647													T	1916826	C	T	1916826	3	4	61	1	0	0	0	0	1	0	0	0	8256	898	31	1	1841	1	KIAA1751	1	1916826	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	594042	1916826	247333795	4	43790											
EXOSC10	5394	broad.mit.edu	37	chr1	11140856	11140856	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccctgcgagctgttttatcCctccaggcaaacagcagctg	9	14	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:11140856C>A	uc001asa.2	-	12	1601	c.1551G>T	c.(1549-1551)AGG>AGT	p.R517S	EXOSC10_uc001asb.2_Missense_Mutation_p.R517S|EXOSC10_uc009vmy.1_Missense_Mutation_p.R517S	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	exosome component 10 isoform 1	517	HRDC.				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			upper_aerodigestive_tract(1)	1	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CTGTTTTATCCCTCCAGGCAA	0.428													A	11140856	C	A	11140856	3	1	61	1	0	0	0	0	1	0	0	0	5314	622	22	5	1162	5	EXOSC10	1	11140856	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	9224030	11140856	238109765	5	43791											
SPEN	23013	broad.mit.edu	37	chr1	16257086	16257086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaaagctttgcttgaaagaGctaaatccctctcttcatct	5	11	3	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:16257086G>A	uc001axk.1	+	11	4555	c.4351G>A	c.(4351-4353)GCT>ACT	p.A1451T	SPEN_uc010obp.1_Missense_Mutation_p.A1410T	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1451					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCTTGAAAGAGCTAAATCCCT	0.363													A	16257086	G	A	16257086	3	1	61	1	0	0	0	0	1	0	0	0	15037	971	34	2	4393	2	SPEN	1	16257086	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	5116230	16257086	232993535	6	43792											
UBR4	23352	broad.mit.edu	37	chr1	19439224	19439224	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttggtggaggatgtgtgGccacagcccaggacggataa	15	9	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:19439224G>A	uc001bbi.2	-	78	11599	c.11595C>T	c.(11593-11595)GGC>GGT	p.G3865G	UBR4_uc001bbj.1_3'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3865					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGGATGTGTGGCCACAGCCCA	0.592													A	19439224	G	A	19439224	2	1	61	1	0	0	0	0	0	0	0	1	16901	1190	42	2		2	UBR4	1	19439224	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	3182138	19439224	229811397	7	43793											
PLA2G2E	30814	broad.mit.edu	37	chr1	20249189	20249189	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgtactgcagggcggactTgcctgtcatcttctcgatca	11	11	4	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:20249189T>G	uc001bct.1	-	2	158	c.100A>C	c.(100-102)AAG>CAG	p.K34Q		NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE precursor	34					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity				0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGCGGACTTGCCTGTCATC	0.532													G	20249189	T	G	20249189	3	3	61	1	0	0	0	0	1	0	0	0	11998	1821	63	5	340	5	PLA2G2E	1	20249189	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	809965	20249189	229001432	8	43794											
NBPF3	84224	broad.mit.edu	37	chr1	21800060	21800060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgatgaatggttggatGctgtatgcattatcccaggt	11	7	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:21800060G>A	uc001ber.2	+	7	1272	c.922G>A	c.(922-924)GCT>ACT	p.A308T	NBPF3_uc001bes.2_Missense_Mutation_p.A252T|NBPF3_uc009vqb.2_Missense_Mutation_p.A308T|NBPF3_uc010odm.1_Missense_Mutation_p.A238T	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	308	NBPF 1.					cytoplasm				upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATGGTTGGATGCTGTATGCAT	0.443													A	21800060	G	A	21800060	3	1	61	1	0	0	0	0	1	0	0	0	10197	1319	46	2	944	2	NBPF3	1	21800060	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1550871	21800060	227450561	9	43795											
HSPG2	3339	broad.mit.edu	37	chr1	22216485	22216485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggctcacctgtgcccaggCgtcggaactggaatccctgg	13	13	1	0	rs145847147		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:22216485C>T	uc001bfj.2	-	6	603	c.563G>A	c.(562-564)CGC>CAC	p.R188H	HSPG2_uc009vqd.2_Missense_Mutation_p.R188H|HSPG2_uc009vqe.1_Missense_Mutation_p.A87T	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	188	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGTGCCCAGGCGTCGGAACTG	0.473													T	22216485	C	T	22216485	3	4	61	1	0	0	0	0	1	0	0	0	7430	768	27	1	12980	1	HSPG2	1	22216485	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	416425	22216485	227034136	10	43796											
PAQR7	164091	broad.mit.edu	37	chr1	26189365	26189365	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaggatgctgctgcccacCgtgagcaggaagaggccaga	16	10	0	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:26189365C>T	uc001bkx.2	-	2	1633	c.966G>A	c.(964-966)ACG>ACA	p.T322T		NM_178422	NP_848509	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	322	Helical; Name=7; (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)	3		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTGCCCACCGTGAGCAGGA	0.587													T	26189365	C	T	26189365	2	4	61	1	0	0	0	0	0	0	0	1	11440	639	23	1		1	PAQR7	1	26189365	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	3972880	26189365	223061256	11	43797											
ARID1A	8289	broad.mit.edu	37	chr1	27099914	27099914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccctacagtcgtgctgccGgccctgggctaggaaatgtg	13	13	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:27099914G>A	uc001bmv.1	+	15	4166	c.3793G>A	c.(3793-3795)GGC>AGC	p.G1265S	ARID1A_uc001bmt.1_Missense_Mutation_p.G1264S|ARID1A_uc001bmu.1_Missense_Mutation_p.G1265S|ARID1A_uc001bmw.1_Missense_Mutation_p.G882S|ARID1A_uc001bmx.1_Missense_Mutation_p.G111S|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1265					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCGTGCTGCCGGCCCTGGGCT	0.607			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								A	27099914	G	A	27099914	3	1	61	1	0	0	0	0	1	0	0	0	913	1116	39	1	3851	1	ARID1A	1	27099914	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	910549	27099914	222150707	12	43798											
ZDHHC18	84243	broad.mit.edu	37	chr1	27180234	27180234	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagcctaattgaccggagggGatttgtgcagtccgacaccg	13	10	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:27180234G>T	uc001bnb.2	+	8	1162	c.1067G>T	c.(1066-1068)GGA>GTA	p.G356V		NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	356						integral to membrane	zinc ion binding				0		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		GACCGGAGGGGATTTGTGCAG	0.587											OREG0013274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	27180234	G	T	27180234	3	4	61	1	0	0	0	0	1	0	0	0	17605	1174	41	5	1097	5	ZDHHC18	1	27180234	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	80320	27180234	222070387	13	43799											
DNAJC8	22826	broad.mit.edu	37	chr1	28537141	28537141	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtcaggatgcaccaagAtggataactacaataagaga	9	6	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:28537141A>G	uc001bpn.2	-	4	278	c.245T>C	c.(244-246)ATC>ACC	p.I82T	DNAJC8_uc001bpo.2_RNA	NM_014280	NP_055095	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	82	J.				nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		ATGCACCAAGATGGATAACTA	0.388													G	28537141	A	G	28537141	3	3	61	1	0	0	0	0	1	0	0	0	4655	333	12	3	540	3	DNAJC8	1	28537141	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	1356907	28537141	220713480	14	43800											
HDAC1	3065	broad.mit.edu	37	chr1	32792620	32792620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaccatgcaaagaagtccGaggcatctggcttctgttac	10	11	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:32792620G>A	uc001bvb.1	+	5	499	c.436G>A	c.(436-438)GAG>AAG	p.E146K	HDAC1_uc010ohd.1_Missense_Mutation_p.E146K|HDAC1_uc010ohe.1_Missense_Mutation_p.E83K|HDAC1_uc010ohf.1_Missense_Mutation_p.E117K|HDAC1_uc001bvc.1_5'Flank	NM_004964	NP_004955	Q13547	HDAC1_HUMAN	histone deacetylase 1	146	Histone deacetylase.				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)	3		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	AAAGAAGTCCGAGGCATCTGG	0.512													A	32792620	G	A	32792620	3	1	61	1	0	0	0	0	1	0	0	0	7004	1059	37	1	454	1	HDAC1	1	32792620	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	4255479	32792620	216458001	15	43801											
CSMD2	114784	broad.mit.edu	37	chr1	34383709	34383709	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttaccagagggaggagccTtctgtcccagtgacttccag	12	12	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:34383709T>G	uc001bxn.1	-	5	815	c.786A>C	c.(784-786)GAA>GAC	p.E262D	CSMD2_uc001bxm.1_Missense_Mutation_p.E302D	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	262	CUB 2.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGGAGGAGCCTTCTGTCCCAG	0.532													G	34383709	T	G	34383709	3	3	61	1	0	0	0	0	1	0	0	0	3945	1606	56	5	9937	5	CSMD2	1	34383709	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	1591089	34383709	214866912	16	43802											
GJB3	2707	broad.mit.edu	37	chr1	35250931	35250931	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaagaaaatcttcacctacTtcatggtgggcgcctccgcc	9	13	3	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:35250931T>A	uc001bxx.2	+	2	1183	c.568T>A	c.(568-570)TTC>ATC	p.F190I	GJB3_uc001bxy.2_Missense_Mutation_p.F190I|GJB3_uc001bxz.3_Missense_Mutation_p.F190I|uc010ohs.1_RNA	NM_024009	NP_076872	O75712	CXB3_HUMAN	connexin 31	190	Helical; (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CTTCACCTACTTCATGGTGGG	0.597													A	35250931	T	A	35250931	3	1	61	1	0	0	0	0	1	0	0	0	6409	1609	56	5	570	5	GJB3	1	35250931	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	867222	35250931	213999690	17	43803											
EIF2C4	192670	broad.mit.edu	37	chr1	36306953	36306953	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccaagagctcctctacagtCaagaggtcatccaggacctg	9	14	3	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:36306953C>T	uc001bzj.1	+	14	2102	c.1912C>T	c.(1912-1914)CAA>TAA	p.Q638*		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	eukaryotic translation initiation factor 2C, 4	638	Piwi.				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)				CCTCTACAGTCAAGAGGTCAT	0.547													T	36306953	C	T	36306953	4	4	61	1	0	0	0	0	0	1	0	0	5008	827	29	4	1966	4	EIF2C4	1	36306953	Nonsense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1056022	36306953	212943668	18	43804											
ADPRHL2	54936	broad.mit.edu	37	chr1	36558733	36558733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgagtcggtacccaccGccatctactgcttcctacgc	7	17	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:36558733G>A	uc001bzt.2	+	6	891	c.838G>A	c.(838-840)GCC>ACC	p.A280T	ADPRHL2_uc001bzu.2_Missense_Mutation_p.A126T	NM_017825	NP_060295	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	280						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			pancreas(1)	1		Myeloproliferative disorder(586;0.0393)				GGTACCCACCGCCATCTACTG	0.547													A	36558733	G	A	36558733	3	1	61	1	0	0	0	0	1	0	0	0	333	1087	38	1	860	1	ADPRHL2	1	36558733	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	251780	36558733	212691888	19	43805											
SCMH1	22955	broad.mit.edu	37	chr1	41608726	41608726	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtggatgtggtgttcctgGggtcctgtgcttccaatttc	14	8	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:41608726G>T	uc001cgo.2	-	6	517	c.206C>A	c.(205-207)CCC>CAC	p.P69H	SCMH1_uc010ojr.1_Missense_Mutation_p.P22H|SCMH1_uc001cgp.2_Missense_Mutation_p.P8H|SCMH1_uc001cgr.2_Missense_Mutation_p.P8H|SCMH1_uc001cgs.2_Missense_Mutation_p.P79H|SCMH1_uc001cgt.2_Missense_Mutation_p.P8H|SCMH1_uc001cgq.2_Missense_Mutation_p.P22H|SCMH1_uc010ojs.1_RNA	NM_001031694	NP_001026864	Q96GD3	SCMH1_HUMAN	sex comb on midleg 1 isoform 1	69	MBT 1.				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				GGTGTTCCTGGGGTCCTGTGC	0.493													T	41608726	G	T	41608726	3	4	61	1	0	0	0	0	1	0	0	0	13908	1232	43	5	1820	5	SCMH1	1	41608726	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	5049993	41608726	207641895	20	43806											
FOXJ3	22887	broad.mit.edu	37	chr1	42657010	42657010	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgttgtgggggtgggggtgCctgatgtgttaacgtctgat	18	5	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:42657010C>A	uc001che.2	-	11	1627	c.1315G>T	c.(1315-1317)GCA>TCA	p.A439S	FOXJ3_uc001chf.2_Missense_Mutation_p.A439S|FOXJ3_uc001chg.2_Missense_Mutation_p.A439S|FOXJ3_uc001chh.1_Missense_Mutation_p.A405S	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	439					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)	2	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGTGGGGGTGCCTGATGTGTT	0.493													A	42657010	C	A	42657010	3	1	61	1	0	0	0	0	1	0	0	0	6013	739	26	5	573	5	FOXJ3	1	42657010	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1048284	42657010	206593611	21	43807											
CLDN19	149461	broad.mit.edu	37	chr1	43204117	43204117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgaagagggctcccccGgcgatggcaacacggccctt	14	13	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:43204117G>A	uc001cht.1	-	2	554	c.363C>T	c.(361-363)GCC>GCT	p.A121A	CLDN19_uc001chu.2_Silent_p.A121A|CLDN19_uc010ojv.1_Silent_p.A121A	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	claudin 19 isoform a	121	Helical; (Potential).				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGCTCCCCCGGCGATGGCAA	0.652													A	43204117	G	A	43204117	2	1	61	1	0	0	0	0	0	0	0	1	3480	1103	39	1		1	CLDN19	1	43204117	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	547107	43204117	206046504	22	43808											
TIE1	7075	broad.mit.edu	37	chr1	43775113	43775113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgagttcgaggtgcccCgcttggttcttgcggacagt	14	11	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:43775113C>T	uc001ciu.2	+	9	1322	c.1243C>T	c.(1243-1245)CGC>TGC	p.R415C	TIE1_uc010okd.1_Missense_Mutation_p.R415C|TIE1_uc010oke.1_Missense_Mutation_p.R370C|TIE1_uc009vwq.2_Missense_Mutation_p.R371C|TIE1_uc010okf.1_Missense_Mutation_p.R60C|TIE1_uc010okg.1_Missense_Mutation_p.R60C|TIE1_uc010okc.1_3'UTR	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	415	Ig-like C2-type 2.|Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGAGGTGCCCCGCTTGGTTCT	0.587													T	43775113	C	T	43775113	3	4	61	1	0	0	0	0	1	0	0	0	15890	652	23	1	1277	1	TIE1	1	43775113	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	570996	43775113	205475508	23	43809											
TESK2	10420	broad.mit.edu	37	chr1	45810622	45810622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctcctcagaagcacccgCagggcatggactggtcccct	10	16	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:45810622C>T	uc001cns.1	-	11	2009	c.1606G>A	c.(1606-1608)GCG>ACG	p.A536T	TESK2_uc009vxr.1_Missense_Mutation_p.A507T|TESK2_uc010olo.1_Missense_Mutation_p.A453T|TESK2_uc009vxs.1_Missense_Mutation_p.A328T	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	testis-specific protein kinase 2	536					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(2)|pancreas(1)	5	Acute lymphoblastic leukemia(166;0.155)					GAAGCACCCGCAGGGCATGGA	0.582													T	45810622	C	T	45810622	3	4	61	1	0	0	0	0	1	0	0	0	15765	710	25	2	113	2	TESK2	1	45810622	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2035509	45810622	203439999	24	43810											
FAAH	2166	broad.mit.edu	37	chr1	46871370	46871370	+	Frame_Shift_Del	DEL	C	C	-													cctcatcgggtctggaggctCccccctgggcttaggcactg							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:46871369_46871369TC>T	uc001cpu.2	+	4	770	c.688_688TC>T	c.(688-690)tccfs	p.S230fs	FAAH_uc001cpv.2_Non-coding_Transcript	NM_001441	NP_001432	O00519	FAAH1_HUMAN	Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	230					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GTCTGGAGGCTCCCCCCTGGG	0.642													-	46871370	C	-	46871370	7	5	61	1	0	1	0	1	0	0	0	0	5353	855	30	0	707	0	FAAH	1	46871370	Frame_Shift_Del	DEL	C	TCGA-BR-8059-01A-11D-2340-08	1060748	46871370	202379251	25	43811											
KIAA0494	9813	broad.mit.edu	37	chr1	47144205	47144205	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcggaatcaaatgctctcaaGctctctggttctggcatagc	9	11	4	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:47144205G>T	uc001cqk.3	-	11	2393	c.1416C>A	c.(1414-1416)AGC>AGA	p.S472R	KIAA0494_uc010omh.1_Intron|KIAA0494_uc010omj.1_Missense_Mutation_p.S264R	NM_014774	NP_055589	O75071	K0494_HUMAN	hypothetical protein LOC9813	472	EF-hand 2.						calcium ion binding				0	Acute lymphoblastic leukemia(166;0.155)					ATGCTCTCAAGCTCTCTGGTT	0.473													T	47144205	G	T	47144205	3	4	61	1	0	0	0	0	1	0	0	0	8179	962	34	5	75	5	KIAA0494	1	47144205	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	272835	47144205	202106416	26	43812											
CYP4B1	1580	broad.mit.edu	37	chr1	47279221	47279221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgatgtgggtcacatggCgctgaacacactcatgaagt	12	10	2	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:47279221C>T	uc001cqm.3	+	5	647	c.563C>T	c.(562-564)GCG>GTG	p.A188V	CYP4B1_uc009vyl.1_Missense_Mutation_p.A25V|CYP4B1_uc001cqn.3_Missense_Mutation_p.A188V|CYP4B1_uc009vym.2_Missense_Mutation_p.A173V|CYP4B1_uc010omk.1_Missense_Mutation_p.A25V|CYP4B1_uc010oml.1_Missense_Mutation_p.A25V	NM_000779	NP_000770	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	188					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					GGTCACATGGCGCTGAACACA	0.572													T	47279221	C	T	47279221	3	4	61	1	0	0	0	0	1	0	0	0	4185	768	27	1	581	1	CYP4B1	1	47279221	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	135016	47279221	201971400	27	43813											
CYP4A22	284541	broad.mit.edu	37	chr1	47607809	47607809	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctcctgttgaatgggcagAcatggttccagcatcgacgg	13	10	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:47607809A>C	uc001cqv.1	+	4	463	c.412A>C	c.(412-414)ACA>CCA	p.T138P	CYP4A22_uc009vyo.2_Missense_Mutation_p.T138P|CYP4A22_uc009vyp.2_Missense_Mutation_p.T138P	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A,	138						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			skin(2)|ovary(1)|breast(1)	4						GAATGGGCAGACATGGTTCCA	0.532													C	47607809	A	C	47607809	3	2	61	1	0	0	0	0	1	0	0	0	4184	275	10	5	426	5	CYP4A22	1	47607809	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	328588	47607809	201642812	28	43814											
CDCP2	200008	broad.mit.edu	37	chr1	54607090	54607090	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acccctgacaggccagtcagGacgccgccacacacatctgc	9	18	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:54607090G>C	uc001cwv.1	-	3	1292	c.444C>G	c.(442-444)GTC>GTG	p.V148V		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2 precursor	148	CUB 2.					extracellular region				ovary(1)	1						GGCCAGTCAGGACGCCGCCAC	0.597													C	54607090	G	C	54607090	2	2	61	1	0	0	0	0	0	0	0	1	3094	1161	41	5		5	CDCP2	1	54607090	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	6999281	54607090	194643531	29	43815											
FOXD3	27022	broad.mit.edu	37	chr1	63789265	63789265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccgcttcccctactacaGggagaagttccccgcctggc	9	17	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:63789265G>A	uc001dax.2	+	1	536	c.536G>A	c.(535-537)AGG>AAG	p.R179K		NM_012183	NP_036315	Q9UJU5	FOXD3_HUMAN	forkhead box D3	179	Fork-head.				axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						CCCTACTACAGGGAGAAGTTC	0.617													A	63789265	G	A	63789265	3	1	61	1	0	0	0	0	1	0	0	0	5998	1000	35	4	538	4	FOXD3	1	63789265	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	9182175	63789265	185461356	30	43816											
JAK1	3716	broad.mit.edu	37	chr1	65330630	65330630	+	Frame_Shift_Del	DEL	T	T	-													gttttttccgcttcagtttaTttttttccttttcaacagaa							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:65330629_65330629AT>A	uc001dbu.1	-	7	1266	c.1017_1017AT>T	c.(1015-1017)aatfs	p.N339fs	JAK1_uc009wam.1_Frame_Shift_Del_p.N339fs	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	339	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GCTTCAGTTTATTTTTTTCCT	0.358			Mis		ALL								-	65330630	T	-	65330630	7	5	61	1	0	1	0	1	0	0	0	0	7937	1493	52	0	2520	0	JAK1	1	65330630	Frame_Shift_Del	DEL	T	TCGA-BR-8059-01A-11D-2340-08	1541365	65330630	183919991	31	43817											
SGIP1	84251	broad.mit.edu	37	chr1	67154912	67154912	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccacctcctccccggcctcCatcccggccaaagctacctc	5	23	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:67154912C>A	uc001dcr.2	+	16	1614	c.1397C>A	c.(1396-1398)CCA>CAA	p.P466Q	SGIP1_uc010opd.1_Missense_Mutation_p.P66Q|SGIP1_uc001dcs.2_Missense_Mutation_p.P66Q|SGIP1_uc001dct.2_Missense_Mutation_p.P66Q|SGIP1_uc009wat.2_Missense_Mutation_p.P260Q	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	466	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						CCCCGGCCTCCATCCCGGCCA	0.532													A	67154912	C	A	67154912	3	1	61	1	0	0	0	0	1	0	0	0	14206	594	21	5	1459	5	SGIP1	1	67154912	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1824282	67154912	182095709	32	43818											
DIRAS3	9077	broad.mit.edu	37	chr1	68512338	68512338	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctcagtggtgttgggcaTctgggatttcttctcgggct	13	9	4	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:68512338T>C	uc001ded.2	-	2	938	c.643A>G	c.(643-645)ATG>GTG	p.M215V	uc001deb.1_Intron|uc001dec.1_Intron	NM_004675	NP_004666	O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	215					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			skin(1)	1						GTGTTGGGCATCTGGGATTTC	0.522													C	68512338	T	C	68512338	3	2	61	1	0	0	0	0	1	0	0	0	4532	1435	50	3	50	3	DIRAS3	1	68512338	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	1357426	68512338	180738283	33	43819											
LRRC8C	84230	broad.mit.edu	37	chr1	90180340	90180340	+	Frame_Shift_Del	DEL	A	A	-													cttaaaactctgaagattggAaaaaacagcctatctgtact					rs76509396		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:90180339_90180339GA>G	uc001dnl.4	+	2	2452	c.2210_2210GA>G	c.(2209-2211)ggafs	p.G737fs		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	737						endoplasmic reticulum membrane|integral to membrane		p.G737G(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CTGAAGATTGGAAAAAACAGC	0.348													-	90180340	A	-	90180340	7	5	61	1	0	1	0	1	0	0	0	0	9023	233	9	0	2217	0	LRRC8C	1	90180340	Frame_Shift_Del	DEL	A	TCGA-BR-8059-01A-11D-2340-08	21668002	90180340	159070281	34	43820											
CCDC18	343099	broad.mit.edu	37	chr1	93682304	93682304	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactagaacaggagcttatgGtaaaacttatctttgttcct	7	7	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:93682304G>T	uc001dpq.2	+	13	2352	c.2184_splice	c.e13+1	p.M728_splice	CCDC18_uc009wdl.1_Splice_Site_p.M289_splice	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41											ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GGAGCTTATGGTAAAACTTAT	0.308													T	93682304	G	T	93682304	5	4	61	1	0	0	0	0	0	0	1	0	2794	1275	44	5	2235	5	CCDC18	1	93682304	Splice_Site	SNP	G	TCGA-BR-8059-01A-11D-2340-08	3501964	93682304	155568317	35	43821											
AGL	178	broad.mit.edu	37	chr1	100345508	100345508	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgctaggaatttgcaAcccaatttatatgtagtagc	9	7	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:100345508A>G	uc001dsi.1	+	13	2041	c.1641A>G	c.(1639-1641)CAA>CAG	p.Q547Q	AGL_uc001dsj.1_Silent_p.Q547Q|AGL_uc001dsk.1_Silent_p.Q547Q|AGL_uc001dsl.1_Silent_p.Q547Q|AGL_uc001dsm.1_Silent_p.Q531Q|AGL_uc001dsn.1_Silent_p.Q530Q	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	547	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GGAATTTGCAACCCAATTTAT	0.378													G	100345508	A	G	100345508	2	3	61	1	0	0	0	0	0	0	0	1	384	40	2	3		3	AGL	1	100345508	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	6663204	100345508	148905113	36	43822											
FNDC7	163479	broad.mit.edu	37	chr1	109276074	109276074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcactgagataccctgtgGggatgtatacactgtgatgg	13	7	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:109276074G>A	uc001dvx.2	+	10	2060	c.2060G>A	c.(2059-2061)GGG>GAG	p.G687E	FNDC7_uc010ova.1_Missense_Mutation_p.G454E	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	688	Fibronectin type-III 8.					extracellular region				ovary(1)|skin(1)	2		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		ATACCCTGTGGGGATGTATAC	0.443													A	109276074	G	A	109276074	3	1	61	1	0	0	0	0	1	0	0	0	5973	1232	43	4	2098	4	FNDC7	1	109276074	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	8930566	109276074	139974547	37	43823											
CELSR2	1952	broad.mit.edu	37	chr1	109801344	109801344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcgggccgcccttcctgCcctctgaggacctgcaggag	16	15	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:109801344C>T	uc001dxa.3	+	2	3662	c.3601C>T	c.(3601-3603)CCC>TCC	p.P1201S		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1201	Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		gcccTTCCTGCCCTCTGAGGA	0.602													T	109801344	C	T	109801344	3	4	61	1	0	0	0	0	1	0	0	0	3222	739	26	2	3607	2	CELSR2	1	109801344	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	525270	109801344	139449277	38	43824											
ATXN7L2	127002	broad.mit.edu	37	chr1	110029157	110029157	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcttcgggcactgccctgccCatgatgacttctacttggtt	9	13	2	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:110029157C>G	uc001dxr.2	+	3	238	c.223C>G	c.(223-225)CAT>GAT	p.H75D	ATXN7L2_uc001dxs.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	75										ovary(2)	2		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGCCCTGCCCATGATGACTT	0.552													G	110029157	C	G	110029157	3	3	61	1	0	0	0	0	1	0	0	0	1217	594	21	5	233	5	ATXN7L2	1	110029157	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	227813	110029157	139221464	39	43825											
GPR61	83873	broad.mit.edu	37	chr1	110086455	110086455	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgatggtcaccagctcggggGccccccagaccaccccacac	10	20	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:110086455G>C	uc001dxy.2	+	2	1494	c.811G>C	c.(811-813)GCC>CCC	p.A271P		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	271	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CAGCTCGGGGGCCCCCCAGAC	0.662													C	110086455	G	C	110086455	3	2	61	1	0	0	0	0	1	0	0	0	6702	1203	42	5	813	5	GPR61	1	110086455	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	57298	110086455	139164166	40	43826											
RSBN1	54665	broad.mit.edu	37	chr1	114309746	114309747	+	Missense_Mutation	DNP	TC	TC	AT													aaactggaggttcatgaagaTctaactgaagtctttgtaca							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:114309746_114309747TC>AT	uc001edq.2	-	6	1945_1946	c.1909_1910GA>AT	c.(1909-1911)GAT>ATT	p.D637I	RSBN1_uc001edr.2_RNA	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	637						nucleus				ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCATGAAGATCTAACTGAAGT	0.317													AT	114309747	TC	AT	114309746	3	1	61	1	0	0	0	0	1	0	0	0	13696	1435	50	5	506	5	RSBN1	1	114309746	Missense_Mutation	DNP	TC	TCGA-BR-8059-01A-11D-2340-08	4223291	114309746	134940875	41	43827											
NHLH2	4808	broad.mit.edu	37	chr1	116380625	116380625	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgagataggagatgtagcaGatggccaggcgcaggatctc	15	7	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:116380625G>T	uc009wgz.2	-	2	874	c.369C>A	c.(367-369)ATC>ATA	p.I123I	NHLH2_uc001efy.2_Silent_p.I123I	NM_001111061	NP_001104531	Q02577	HEN2_HUMAN	nescient helix loop helix 2	123	Helix-loop-helix motif.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AGATGTAGCAGATGGCCAGGC	0.652													T	116380625	G	T	116380625	2	4	61	1	0	0	0	0	0	0	0	1	10404	932	33	5		5	NHLH2	1	116380625	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	2070879	116380625	132869996	42	43828											
ADAM30	11085	broad.mit.edu	37	chr1	120438116	120438116	+	Frame_Shift_Del	DEL	T	T	-													caggcgagcatttaatacacTttttttatatattacaaatc							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:120438115_120438115CT>C	uc001eij.3	-	0	1033	c.845_845AG>G	c.(844-846)agtfs	p.S282fs		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	282	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ATTTAATACACTTTTTTTATA	0.343													-	120438116	T	-	120438116	7	5	61	1	0	1	0	1	0	0	0	0	248	1609	56	0	1532	0	ADAM30	1	120438116	Frame_Shift_Del	DEL	T	TCGA-BR-8059-01A-11D-2340-08	4057491	120438116	128812505	43	43829											
VPS45	11311	broad.mit.edu	37	chr1	150040745	150040745	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctacagaaggaagtgtaccTctttgaacgcattgattctc	8	9	3	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:150040745T>G	uc001etp.2	+	2	725	c.152T>G	c.(151-153)CTC>CGC	p.L51R	VPS45_uc010pbp.1_RNA|VPS45_uc010pbq.1_Missense_Mutation_p.L15R|VPS45_uc010pbs.1_Missense_Mutation_p.L15R|VPS45_uc009wlm.1_Missense_Mutation_p.L51R|VPS45_uc010pbr.1_Missense_Mutation_p.L15R	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45A	51					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				central_nervous_system(1)|skin(1)	2	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAAGTGTACCTCTTTGAACGC	0.373													G	150040745	T	G	150040745	3	3	61	1	0	0	0	0	1	0	0	0	17208	1551	54	5	158	5	VPS45	1	150040745	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	29602629	150040745	99209876	44	43830											
ANP32E	81611	broad.mit.edu	37	chr1	150201521	150201521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctataatcttccaggtttGtgatctcacagttaaacagg	7	9	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:150201521G>A	uc001etw.2	-	4	747	c.377C>T	c.(376-378)ACA>ATA	p.T126I	ANP32E_uc010pbt.1_5'Flank|ANP32E_uc010pbu.1_Missense_Mutation_p.T78I|ANP32E_uc010pbv.1_Missense_Mutation_p.T85I|ANP32E_uc001etv.3_Missense_Mutation_p.T126I|ANP32E_uc010pbw.1_Intron	NM_030920	NP_112182	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32	126	LRRCT.					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity				0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCCAGGTTTGTGATCTCACA	0.323													A	150201521	G	A	150201521	3	1	61	1	0	0	0	0	1	0	0	0	709	1377	48	4	445	4	ANP32E	1	150201521	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	160776	150201521	99049100	45	43831											
APH1A	51107	broad.mit.edu	37	chr1	150240152	150240152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggagatgggtgatcttcCgtcctcactcagcgatgcta	12	10	3	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:150240152C>T	uc001ety.1	-	3	644	c.322G>A	c.(322-324)GGA>AGA	p.G108R	APH1A_uc010pbx.1_Intron|APH1A_uc001etz.1_Missense_Mutation_p.G108R|APH1A_uc001eua.1_Missense_Mutation_p.G108R|APH1A_uc010pby.1_Missense_Mutation_p.G51R|APH1A_uc001eub.1_5'UTR|APH1A_uc010pbz.1_5'UTR	NM_001077628	NP_001071096	Q96BI3	APH1A_HUMAN	anterior pharynx defective 1 homolog A isoform	108	Cytoplasmic (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			ovary(1)|lung(1)	2	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTGATCTTCCGTCCTCACTC	0.592													T	150240152	C	T	150240152	3	4	61	1	0	0	0	0	1	0	0	0	771	661	23	1	506	1	APH1A	1	150240152	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	38631	150240152	99010469	46	43832											
SEMA6C	10500	broad.mit.edu	37	chr1	151115071	151115071	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcagcagcagtagcagcaaGggcatgaagtggggggcacg	18	8	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:151115071G>C	uc001ewu.2	-	3	327	c.27C>G	c.(25-27)CCC>CCG	p.P9P	SEMA6C_uc001ewv.2_Silent_p.P9P|SEMA6C_uc001eww.2_Silent_p.P9P|SEMA6C_uc010pcq.1_Silent_p.P9P|SEMA6C_uc009wml.1_Intron	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	9						integral to membrane	receptor activity			ovary(1)|skin(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTAGCAGCAAGGGCATGAAGT	0.647													C	151115071	G	C	151115071	2	2	61	1	0	0	0	0	0	0	0	1	14041	987	35	5		5	SEMA6C	1	151115071	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	874919	151115071	98135550	47	43833											
MRPL9	65005	broad.mit.edu	37	chr1	151732634	151732634	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcacgacagacataggcacTctcacagtatcaagcccatt	6	13	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:151732634T>A	uc001eyv.2	-	7	781	c.696A>T	c.(694-696)AGA>AGT	p.R232S	MRPL9_uc009wmz.2_RNA	NM_031420	NP_113608	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9 precursor	232					translation	mitochondrial ribosome	structural constituent of ribosome			ovary(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACATAGGCACTCTCACAGTAT	0.478													A	151732634	T	A	151732634	3	1	61	1	0	0	0	0	1	0	0	0	9820	1548	54	5	111	5	MRPL9	1	151732634	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	617563	151732634	97517987	48	43834											
HRNR	388697	broad.mit.edu	37	chr1	152192965	152192965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcttgatgcctgccctgaCgtagatccatgttgtccctg	11	12	0	3	rs139453762		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:152192965C>T	uc001ezt.1	-	3	1216	c.1140G>A	c.(1138-1140)ACG>ACA	p.T380T		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	380	4.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGCCCTGACGTAGATCCAT	0.567													T	152192965	C	T	152192965	2	4	61	1	0	0	0	0	0	0	0	1	7359	523	19	1		1	HRNR	1	152192965	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	460331	152192965	97057656	49	43835											
FLG	2312	broad.mit.edu	37	chr1	152284910	152284910	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcatggtgggatccttGtcttactccagtgctgggcc	12	12	2	0	rs147738817		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:152284910G>C	uc001ezu.1	-	3	2488	c.2452C>G	c.(2452-2454)CAA>GAA	p.Q818E	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	818	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGATCCTTGTCTTACTCCA	0.562									Ichthyosis				C	152284910	G	C	152284910	3	2	61	1	0	0	0	0	1	0	0	0	5922	1386	48	5	9737	5	FLG	1	152284910	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	91945	152284910	96965711	50	43836											
FLG2	388698	broad.mit.edu	37	chr1	152327308	152327308	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	actcatgctgtccaaagccaGaggattttcctgagcctgac	9	12	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:152327308G>C	uc001ezw.3	-	3	3027	c.2954C>G	c.(2953-2955)TCT>TGT	p.S985C	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	985	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAAAGCCAGAGGATTTTCC	0.498													C	152327308	G	C	152327308	3	2	61	1	0	0	0	0	1	0	0	0	5923	942	33	5	4225	5	FLG2	1	152327308	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	42398	152327308	96923313	51	43837											
SLC27A3	11000	broad.mit.edu	37	chr1	153749026	153749026	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctggagccggacctgcccGccctgagagccatggggctc	14	17	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:153749026G>T	uc001fcz.2	+	2	906	c.841G>T	c.(841-843)GCC>TCC	p.A281S	SLC27A3_uc009won.2_RNA	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	solute carrier family 27 member 3	281					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			ovary(1)	1	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGACCTGCCCGCCCTGAGAGC	0.622													T	153749026	G	T	153749026	3	4	61	1	0	0	0	0	1	0	0	0	14527	1087	38	5	847	5	SLC27A3	1	153749026	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1421718	153749026	95501595	52	43838											
HCN3	57657	broad.mit.edu	37	chr1	155252420	155252420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccgcgggccatccgcaCgcgctacctgcgcacctggt	13	18	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:155252420C>T	uc001fjz.1	+	2	505	c.497C>T	c.(496-498)ACG>ATG	p.T166M	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Translation_Start_Site	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	166	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCATCCGCACGCGCTACCTG	0.582													T	155252420	C	T	155252420	3	4	61	1	0	0	0	0	1	0	0	0	6998	536	19	1	503	1	HCN3	1	155252420	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1503394	155252420	93998201	53	43839											
KIRREL	55243	broad.mit.edu	37	chr1	158059568	158059568	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggggtgacggtggcaaggTggagtgtttcattgggagca	20	4	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:158059568T>C	uc001frn.3	+	10	1636	c.1232T>C	c.(1231-1233)GTG>GCG	p.V411A	KIRREL_uc010pib.1_Missense_Mutation_p.V311A|KIRREL_uc009wsq.2_Missense_Mutation_p.V247A|KIRREL_uc001fro.3_Missense_Mutation_p.V225A	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	411	Ig-like C2-type 5.|Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					GGTGGCAAGGTGGAGTGTTTC	0.592													C	158059568	T	C	158059568	3	2	61	1	0	0	0	0	1	0	0	0	8324	1696	59	3	1270	3	KIRREL	1	158059568	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	2807148	158059568	91191053	54	43840											
CD1A	909	broad.mit.edu	37	chr1	158226016	158226016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatcttctcagtgacacctGcccacgtttcatcttgggtc	7	14	4	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:158226016G>A	uc001frt.2	+	3	1081	c.548G>A	c.(547-549)TGC>TAC	p.C183Y		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	183	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	AGTGACACCTGCCCACGTTTC	0.463													A	158226016	G	A	158226016	3	1	61	1	0	0	0	0	1	0	0	0	2974	1319	46	2	558	2	CD1A	1	158226016	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	166448	158226016	91024605	55	43841											
OR10T2	128360	broad.mit.edu	37	chr1	158368498	158368498	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatagatgatagaggcacaGccatagtggacaaagaccac	11	8	0	5			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:158368498G>A	uc010pih.1	-	1	759	c.759C>T	c.(757-759)GGC>GGT	p.G253G		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T,	253	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					TAGAGGCACAGCCATAGTGGA	0.507													A	158368498	G	A	158368498	2	1	61	1	0	0	0	0	0	0	0	1	10919	958	34	2		2	OR10T2	1	158368498	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	142482	158368498	90882123	56	43842											
PPOX	5498	broad.mit.edu	37	chr1	161137804	161137804	+	Frame_Shift_Del	DEL	C	C	-													gggggctactccgcccttcaCcccccttctccaaacctctg							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:161137803_161137803AC>A	uc001fyj.2	+	4	647	c.357_357AC>A	c.(355-357)tcafs	p.S119fs	PPOX_uc001fyg.2_Frame_Shift_Del_p.S119fs|PPOX_uc010pkg.1_Intron|PPOX_uc001fyi.2_Intron|PPOX_uc010pkh.1_Intron	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	Homo sapiens protoporphyrinogen oxidase (PPOX), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	119					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCCGCCCTTCACCCCCCTTCT	0.602													-	161137804	C	-	161137804	7	5	61	1	0	1	0	1	0	0	0	0	12348	507	18	0	372	0	PPOX	1	161137804	Frame_Shift_Del	DEL	C	TCGA-BR-8059-01A-11D-2340-08	2769306	161137804	88112817	57	43843											
C1orf192	257177	broad.mit.edu	37	chr1	161335437	161335437	+	Frame_Shift_Del	DEL	G	G	-													aggtcagggtcacccgagcaGggggtatcttcagaggcatt							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:161335436_161335436AG>A	uc001gal.3	-	3	234	c.228_228CT>T	c.(226-228)cctfs	p.P76fs		NM_001013625	NP_001013647	Q5VTH2	CA192_HUMAN	Homo sapiens chromosome 1 open reading frame 192 (C1orf192), mRNA.	76										endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCACCCGAGCAGGGGGTATCT	0.522													-	161335437	G	-	161335437	7	5	61	1	0	1	0	1	0	0	0	0	2024	1000	35	0	314	0	C1orf192	1	161335437	Frame_Shift_Del	DEL	G	TCGA-BR-8059-01A-11D-2340-08	197633	161335437	87915184	58	43844											
FCRLA	84824	broad.mit.edu	37	chr1	161682971	161682971	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcccctgggcctctgcCtccgccgccaaccccatctt	10	20	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:161682971C>A	uc001gbe.2	+	6	1192	c.950C>A	c.(949-951)CCT>CAT	p.P317H	FCRLA_uc001gbd.2_Missense_Mutation_p.P311H|FCRLA_uc001gbf.2_Missense_Mutation_p.P222H|FCRLA_uc001gbg.2_Missense_Mutation_p.P171H|FCRLA_uc009wuo.2_Missense_Mutation_p.P177H|FCRLA_uc009wup.2_Missense_Mutation_p.P127H|FCRLA_uc009wuq.2_Missense_Mutation_p.P76H	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	294	Pro-rich.				cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GGGCCTCTGCCTCCGCCGCCA	0.572													A	161682971	C	A	161682971	3	1	61	1	0	0	0	0	1	0	0	0	5800	681	24	5	972	5	FCRLA	1	161682971	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	347534	161682971	87567650	59	43845											
ATF6	22926	broad.mit.edu	37	chr1	161789511	161789511	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagaaagaatatatgctagGgttagaggcgagattaaagg	14	2	0	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:161789511G>T	uc001gbr.2	+	8	1065	c.998G>T	c.(997-999)GGG>GTG	p.G333V	ATF6_uc001gbq.1_Missense_Mutation_p.G333V	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	333	Cytoplasmic (Potential).				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TATATGCTAGGGTTAGAGGCG	0.428													T	161789511	G	T	161789511	3	4	61	1	0	0	0	0	1	0	0	0	1084	1232	43	5	1028	5	ATF6	1	161789511	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	106540	161789511	87461110	60	43846											
UAP1	6675	broad.mit.edu	37	chr1	162569119	162569119	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctctaatcatcgatgagaAtggagttcatgagctggtga	11	7	3	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:162569119A>G	uc001gce.3	+	10	1813	c.1484A>G	c.(1483-1485)AAT>AGT	p.N495S		NM_003115	NP_003106	Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	512					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			ovary(2)|skin(2)|kidney(1)	5	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ATCGATGAGAATGGAGTTCAT	0.348													G	162569119	A	G	162569119	3	3	61	1	0	0	0	0	1	0	0	0	16822	101	4	3	1518	3	UAP1	1	162569119	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	779608	162569119	86681502	61	43847											
FAM78B	149297	broad.mit.edu	37	chr1	166039482	166039482	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggccagtctgcttctacTtaggagggatcacaaccaga	10	11	4	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:166039482T>G	uc001gdr.2	-	3	1372	c.782A>C	c.(781-783)AAG>ACG	p.K261T	FAM78B_uc010plc.1_RNA|FAM78B_uc001gdq.2_RNA	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	hypothetical protein LOC149297	261										central_nervous_system(1)|skin(1)	2	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CTGCTTCTACTTAGGAGGGAT	0.577													G	166039482	T	G	166039482	3	3	61	1	0	0	0	0	1	0	0	0	5627	1609	56	5	7	5	FAM78B	1	166039482	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	3470363	166039482	83211139	62	43848											
F5	2153	broad.mit.edu	37	chr1	169500218	169500218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcataggaaagtccatgggCatgtagagaatacggtctgg	13	6	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:169500218C>T	uc001ggg.1	-	15	5159	c.5014G>A	c.(5014-5016)GCC>ACC	p.A1672T		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1672	F5/8 type A 3.|Plastocyanin-like 5.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGTCCATGGGCATGTAGAGAA	0.363													T	169500218	C	T	169500218	3	4	61	1	0	0	0	0	1	0	0	0	5348	710	25	2	1704	2	F5	1	169500218	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	3460736	169500218	79750403	63	43849											
SCYL3	57147	broad.mit.edu	37	chr1	169823472	169823472	+	Frame_Shift_Del	DEL	T	T	-													tcactggggagacatcatccTtttttgggaccatttctgtc							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:169823471_169823471CT>C	uc001ggs.2	-	12	2307	c.2109_2109AG>G	c.(2107-2109)aagfs	p.K703fs	SCYL3_uc010plw.1_Frame_Shift_Del_p.K295fs|SCYL3_uc001ggt.2_Frame_Shift_Del_p.K649fs	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	703	Interaction with EZR.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGACATCATCCTTTTTTGGGA	0.403													-	169823472	T	-	169823472	7	5	61	1	0	1	0	1	0	0	0	0	13949	1609	56	0	128	0	SCYL3	1	169823472	Frame_Shift_Del	DEL	T	TCGA-BR-8059-01A-11D-2340-08	323254	169823472	79427149	64	43850											
PRG4	10216	broad.mit.edu	37	chr1	186277936	186277937	+	Frame_Shift_Ins	INS	-	-	A													aaagccaaccaaagcacccaINSaaaaacccacttctaccaaa							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:186277935_186277936C>CA	uc001gru.4	+	6	3135_3136	c.3084_3085C>CA	c.(3082-3087)cccaaafs	p.P1028fs	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Frame_Shift_Ins_p.P987fs|PRG4_uc009wyl.3_Frame_Shift_Ins_p.P935fs|PRG4_uc009wym.3_Frame_Shift_Ins_p.P894fs|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	1028					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCAAAGCACCCAAAAAACCCAC	0.411													A	186277937	-	A	186277936	7	5	61	1	0	1	1	0	0	0	0	0	12481	131	5	0	3107	0	PRG4	1	186277936	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	16454464	186277936	62972685	65	43851											
TPR	7175	broad.mit.edu	37	chr1	186300651	186300651	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccaatggaatcttgagaAtcctggttgtatacctgagt	9	8	2	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:186300651A>G	uc001grv.2	-	39	5964	c.5667T>C	c.(5665-5667)GAT>GAC	p.D1889D		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1889					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AATCTTGAGAATCCTGGTTGT	0.343			T	NTRK1	papillary thyroid								G	186300651	A	G	186300651	2	3	61	1	0	0	0	0	0	0	0	1	16413	98	4	3		3	TPR	1	186300651	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	22715	186300651	62949970	66	43852											
TROVE2	6738	broad.mit.edu	37	chr1	193045113	193045115	+	In_Frame_Del	DEL	AGA	AGA	-													ctagaagtcattcatctaatAgaagaacatagattagttag							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:193045112_193045114TAGA>T	uc001gss.3	+	2	1119_1121	c.743_745TAGA>T	c.(742-747)atagaa>aTaa	p.E250del	TROVE2_uc001gsu.2_5'UTR|TROVE2_uc001gsv.2_In_Frame_Del_p.E250del|TROVE2_uc009wyp.3_In_Frame_Del_p.E250del|TROVE2_uc001gsw.3_In_Frame_Del_p.E250del|TROVE2_uc009wyq.3_In_Frame_Del_p.E250del|TROVE2_uc001gsx.2_In_Frame_Del_p.E250del	NM_001173524	NP_004591	P10155	RO60_HUMAN	Homo sapiens TROVE domain family, member 2 (TROVE2), transcript variant 5, mRNA.	250	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	RNA binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						ATTCATCTAATAGAAGAACATAG	0.335													-	193045115	AGA	-	193045113	7	5	61	1	0	1	0	1	0	0	0	0	16573	410	15	0	750	0	TROVE2	1	193045113	In_Frame_Del	DEL	AGA	TCGA-BR-8059-01A-11D-2340-08	6744462	193045113	56205508	67	43853											
CRB1	23418	broad.mit.edu	37	chr1	197404057	197404057	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaacagcttttatatgctaAgtctgacaagtttgcagtca	8	8	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:197404057A>C	uc001gtz.2	+	9	3199	c.3064A>C	c.(3064-3066)AGT>CGT	p.S1022R	CRB1_uc010poz.1_Missense_Mutation_p.S998R|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.S910R|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.S503R|CRB1_uc001gub.1_Missense_Mutation_p.S671R	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	1022	Extracellular (Potential).|Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						TTATATGCTAAGTCTGACAAG	0.413													C	197404057	A	C	197404057	3	2	61	1	0	0	0	0	1	0	0	0	3848	72	3	5	3098	5	CRB1	1	197404057	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	4358944	197404057	51846564	68	43854											
KIF21B	23046	broad.mit.edu	37	chr1	200978019	200978019	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cctcgggatgatgccctgctCctcctccgacgttgccatgt	10	16	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:200978019C>G	uc001gvs.1	-	3	642	c.325G>C	c.(325-327)GAG>CAG	p.E109Q	KIF21B_uc001gvr.1_Missense_Mutation_p.E109Q|KIF21B_uc009wzl.1_Missense_Mutation_p.E109Q|KIF21B_uc010ppn.1_Missense_Mutation_p.E109Q	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	109	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						ATGCCCTGCTCCTCCTCCGAC	0.627													G	200978019	C	G	200978019	3	3	61	1	0	0	0	0	1	0	0	0	8289	864	30	5	4677	5	KIF21B	1	200978019	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	3573962	200978019	48272602	69	43855											
PLEKHA6	22874	broad.mit.edu	37	chr1	204226851	204226851	+	Frame_Shift_Del	DEL	G	G	-													tgtcctccagggcccagggcGggctgatccgatcataggcc					rs138411516		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:204226851delG	uc001hau.2	-	9	1471	c.1154delC	c.(1153-1155)CCGfs	p.P385fs	PLEKHA6_uc009xaw.1_Frame_Shift_Del_p.P9fs|PLEKHA6_uc009xax.1_Frame_Shift_Del_p.P9fs|PLEKHA6_uc009xay.1_Frame_Shift_Del_p.P9fs|PLEKHA6_uc009xaz.1_Frame_Shift_Del_p.P9fs|PLEKHA6_uc009xba.1_Frame_Shift_Del_p.P9fs|PLEKHA6_uc009xbb.1_Frame_Shift_Del_p.P9fs|PLEKHA6_uc009xbc.1_Frame_Shift_Del_p.P9fs	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	385	Pro-rich.									ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCCCAGGGCGGGCTGATCCG	0.662													-	204226851	G	-	204226851	7	5	61	1	0	1	0	1	0	0	0	0	12060	1116	39	0	2048	0	PLEKHA6	1	204226851	Frame_Shift_Del	DEL	G	TCGA-BR-8059-01A-11D-2340-08	3248832	204226851	45023770	70	43856											
KLHDC8A	55220	broad.mit.edu	37	chr1	205312566	205312566	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggcggtccactggtcgGcctccggggagtagacctcg	16	13	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:205312566G>T	uc001hcf.1	-	2	735	c.167C>A	c.(166-168)GCC>GAC	p.A56D	KLHDC8A_uc010prg.1_Intron|KLHDC8A_uc001hcg.1_Missense_Mutation_p.A56D	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	56	Kelch 2.									ovary(1)	1	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCACTGGTCGGCCTCCGGGGA	0.701													T	205312566	G	T	205312566	3	4	61	1	0	0	0	0	1	0	0	0	8362	1203	42	5	905	5	KLHDC8A	1	205312566	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1085715	205312566	43938055	71	43857											
SLC26A9	115019	broad.mit.edu	37	chr1	205892549	205892549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gattttaatcccctggatatCctgggcctgtgacagggaga	12	9	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:205892549C>T	uc001hdq.2	-	15	1687	c.1573G>A	c.(1573-1575)GAT>AAT	p.D525N	SLC26A9_uc001hdo.2_Missense_Mutation_p.D193N|SLC26A9_uc001hdp.2_Missense_Mutation_p.D525N	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	solute carrier family 26, member 9 isoform a	525	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			ovary(1)|skin(1)	2	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CCCTGGATATCCTGGGCCTGT	0.483													T	205892549	C	T	205892549	3	4	61	1	0	0	0	0	1	0	0	0	14524	855	30	4	1126	4	SLC26A9	1	205892549	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	579983	205892549	43358072	72	43858											
C1orf186	440712	broad.mit.edu	37	chr1	206241563	206241563	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggaatcagacattgggatgtCtctctctgtctgagtctcct	10	10	5	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:206241563C>G	uc001hdt.1	-	4	865	c.226G>C	c.(226-228)GAC>CAC	p.D76H		NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	hypothetical protein LOC440712	76						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(75;0.0754)			ATTGGGATGTCTCTCTCTGTC	0.542													G	206241563	C	G	206241563	3	3	61	1	0	0	0	0	1	0	0	0	2020	913	32	5	304	5	C1orf186	1	206241563	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	349014	206241563	43009058	73	43859											
C1orf116	79098	broad.mit.edu	37	chr1	207198323	207198323	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggacagtccgctgtcagcCtccgtgtccagtgagccaat	12	13	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:207198323C>A	uc001hfd.2	-	3	451	c.192G>T	c.(190-192)GAG>GAT	p.E64D	C1orf116_uc009xcb.1_Translation_Start_Site	NM_023938	NP_076427	Q9BW04	SARG_HUMAN	specifically androgen-regulated protein isoform	64						cytoplasm|plasma membrane	receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Prostate(682;0.19)					CGCTGTCAGCCTCCGTGTCCA	0.567													A	207198323	C	A	207198323	3	1	61	1	0	0	0	0	1	0	0	0	1989	680	24	5	1621	5	C1orf116	1	207198323	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	956760	207198323	42052298	74	43860											
SERTAD4	56256	broad.mit.edu	37	chr1	210415046	210415046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccatggagaaattatcatGcagaataactggtgcttccc	8	9	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:210415046G>A	uc001hhy.2	+	4	614	c.435G>A	c.(433-435)ATG>ATA	p.M145I	SERTAD4_uc009xcw.2_Missense_Mutation_p.M145I	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	145	SERTA.						protein binding			ovary(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		AAATTATCATGCAGAATAACT	0.443													A	210415046	G	A	210415046	3	1	61	1	0	0	0	0	1	0	0	0	14123	1319	46	2	445	2	SERTAD4	1	210415046	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	3216723	210415046	38835575	75	43861											
RD3	343035	broad.mit.edu	37	chr1	211654657	211654657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctctcgcatctgccccGtcagctccatcataagcgtc	7	18	4	0	rs148242709		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:211654657G>A	uc001him.2	-	2	1265	c.101C>T	c.(100-102)ACG>ATG	p.T34M	RD3_uc001hin.2_RNA|RD3_uc009xda.2_Intron	NM_183059	NP_898882	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	34	Potential.				response to stimulus|visual perception					ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		CATCTGCCCCGTCAGCTCCAT	0.627													A	211654657	G	A	211654657	3	1	61	1	0	0	0	0	1	0	0	0	13187	1145	40	1	494	1	RD3	1	211654657	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1239611	211654657	37595964	76	43862											
SLC30A1	7779	broad.mit.edu	37	chr1	211749121	211749121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaatgattctgcttccaGcaagttgccaaacatgtaat	8	9	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:211749121G>A	uc001hio.1	-	2	1278	c.1133C>T	c.(1132-1134)GCT>GTT	p.A378V		NM_021194	NP_067017	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter),	378	Cytoplasmic (Potential).				cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		TCTGCTTCCAGCAAGTTGCCA	0.358													A	211749121	G	A	211749121	3	1	61	1	0	0	0	0	1	0	0	0	14553	971	34	2	394	2	SLC30A1	1	211749121	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	94464	211749121	37501500	77	43863											
PTPN14	5784	broad.mit.edu	37	chr1	214588019	214588019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcacctggtccaatgtacatCgtaatcgcccttcaagcaca	6	14	2	0	rs139895368	byFrequency	TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:214588019C>T	uc001hkk.1	-	4	666	c.395G>A	c.(394-396)CGA>CAA	p.R132Q	PTPN14_uc010pty.1_Missense_Mutation_p.R33Q	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	132	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CAATGTACATCGTAATCGCCC	0.413													T	214588019	C	T	214588019	3	4	61	1	0	0	0	0	1	0	0	0	12783	884	31	1	3232	1	PTPN14	1	214588019	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2838898	214588019	34662602	78	43864											
CENPF	1063	broad.mit.edu	37	chr1	214791999	214792000	+	Frame_Shift_Ins	INS	-	-	T													tgcaatacaccacaaaaaatINSttttacaactccactaacac							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:214791998_214791999A>AT	uc001hkm.3	+	3	616_617	c.442_443A>AT	c.(442-444)attfs	p.I148fs		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	148	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.K147T(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ACCACAAAAAATTTTTACAACT	0.376													T	214792000	-	T	214791999	7	5	61	1	0	1	1	0	0	0	0	0	3231	1493	52	0	453	0	CENPF	1	214791999	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	203980	214791999	34458622	79	43865											
CENPF	1063	broad.mit.edu	37	chr1	214818924	214818924	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctccattgcattcaggTggcagaggcagaggtgaagg	16	7	2	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:214818924T>C	uc001hkm.2	+	13	6185	c.6011T>C	c.(6010-6012)GTG>GCG	p.V2004A		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2100	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGCATTCAGGTGGCAGAGGCA	0.438													C	214818924	T	C	214818924	3	2	61	1	0	0	0	0	1	0	0	0	3231	1696	59	3	6057	3	CENPF	1	214818924	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	26925	214818924	34431697	80	43866											
KCTD3	51133	broad.mit.edu	37	chr1	215793628	215793628	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcaacaggggaatgtaatAtatctgagagaaagtctcct	12	6	2	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:215793628A>G	uc001hks.2	+	18	2410	c.2116A>G	c.(2116-2118)ATA>GTA	p.I706V	KCTD3_uc001hkt.2_Missense_Mutation_p.I704V|KCTD3_uc010pub.1_Missense_Mutation_p.I604V|KCTD3_uc009xdn.2_Missense_Mutation_p.I430V	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	706						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GGAATGTAATATATCTGAGAG	0.373													G	215793628	A	G	215793628	3	3	61	1	0	0	0	0	1	0	0	0	8110	449	16	3	2186	3	KCTD3	1	215793628	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	974704	215793628	33456993	81	43867											
KCTD3	51133	broad.mit.edu	37	chr1	215793684	215793684	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtttgagagaattggatagTggattggaagtgcataaaat	13	1	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:215793684T>A	uc001hks.2	+	18	2466	c.2172T>A	c.(2170-2172)AGT>AGA	p.S724R	KCTD3_uc001hkt.2_Missense_Mutation_p.S722R|KCTD3_uc010pub.1_Missense_Mutation_p.S622R|KCTD3_uc009xdn.2_Missense_Mutation_p.S448R	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	724						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AATTGGATAGTGGATTGGAAG	0.358													A	215793684	T	A	215793684	3	1	61	1	0	0	0	0	1	0	0	0	8110	1693	59	5	2242	5	KCTD3	1	215793684	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	56	215793684	33456937	82	43868											
USH2A	7399	broad.mit.edu	37	chr1	215901410	215901410	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacggtagggctgttaaatgTaggatcgtcgggtctctcct	13	9	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:215901410T>C	uc001hku.1	-	61	12415	c.12028A>G	c.(12028-12030)ACA>GCA	p.T4010A		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4010	Fibronectin type-III 25.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGTTAAATGTAGGATCGTCG	0.433										HNSCC(13;0.011)			C	215901410	T	C	215901410	3	2	61	1	0	0	0	0	1	0	0	0	17033	1638	57	3	3628	3	USH2A	1	215901410	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	107726	215901410	33349211	83	43869											
USH2A	7399	broad.mit.edu	37	chr1	216246578	216246578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctgacagcaccgctggaCacagatgccaagttaacgac	9	13	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:216246578C>T	uc001hku.1	-	28	6024	c.5637G>A	c.(5635-5637)GTG>GTA	p.V1879V		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1879	Fibronectin type-III 5.|Laminin G-like 2.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACCGCTGGACACAGATGCCA	0.468										HNSCC(13;0.011)			T	216246578	C	T	216246578	2	4	61	1	0	0	0	0	0	0	0	1	17033	465	17	4		4	USH2A	1	216246578	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	345168	216246578	33004043	84	43870											
SPATA17	128153	broad.mit.edu	37	chr1	218036114	218036114	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttgaactttttcctcctAggatttccagactgtattac	5	10	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:218036114A>G	uc001hlh.1	+	10	1032	c.1006_splice	c.e10-2	p.D336_splice	SPATA17_uc001hli.2_Splice_Site_p.D336_splice	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17							cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTTTCCTCCTAGGATTTCCAG	0.303													G	218036114	A	G	218036114	5	3	61	1	0	0	0	0	0	0	1	0	15001	434	15	3	1042	3	SPATA17	1	218036114	Splice_Site	SNP	A	TCGA-BR-8059-01A-11D-2340-08	1789536	218036114	31214507	85	43871											
TAF1A	9015	broad.mit.edu	37	chr1	222736624	222736624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctccaaccccagtttacGgtgttcttctttttctgcaa	5	13	3	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:222736624G>A	uc009xdz.1	-	9	1165	c.976C>T	c.(976-978)CGT>TGT	p.R326C	TAF1A_uc009xdy.1_Missense_Mutation_p.R17C|TAF1A_uc001hni.1_Missense_Mutation_p.R212C|TAF1A_uc001hnj.2_Missense_Mutation_p.R326C|TAF1A_uc001hnk.2_Missense_Mutation_p.R212C	NM_139352	NP_647603	Q15573	TAF1A_HUMAN	TBP-associated factor 1A isoform 2	326					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding				0				GBM - Glioblastoma multiforme(131;0.0186)		CCCAGTTTACGGTGTTCTTCT	0.313													A	222736624	G	A	222736624	3	1	61	1	0	0	0	0	1	0	0	0	15516	1116	39	1	388	1	TAF1A	1	222736624	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	4700510	222736624	26513997	86	43872											
DISP1	84976	broad.mit.edu	37	chr1	223177310	223177310	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcattgagacattcaaAcagtggatggaaaaccagga	10	7	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:223177310A>G	uc001hnu.1	+	8	2718	c.2571A>G	c.(2569-2571)AAA>AAG	p.K857K		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	857					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		AGACATTCAAACAGTGGATGG	0.463													G	223177310	A	G	223177310	2	3	61	1	0	0	0	0	0	0	0	1	4539	40	2	3		3	DISP1	1	223177310	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	440686	223177310	26073311	87	43873											
GJC2	57165	broad.mit.edu	37	chr1	228346215	228346215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgccagccctgcccgcaCgtggtggactgcttcgtgtc	13	16	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:228346215C>T	uc001hsk.2	+	2	931	c.756C>T	c.(754-756)CAC>CAT	p.H252H		NM_020435	NP_065168	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	252	Extracellular (Potential).			H -> Q (in Ref. 1; AAB94511).	cell death	connexon complex|integral to membrane					0		Prostate(94;0.0405)				CCTGCCCGCACGTGGTGGACT	0.622													T	228346215	C	T	228346215	2	4	61	1	0	0	0	0	0	0	0	1	6415	535	19	1		1	GJC2	1	228346215	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	5168905	228346215	20904406	88	43874											
HIST3H2BB	128312	broad.mit.edu	37	chr1	228646133	228646133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagacggccgttcgcctGctgctgcccggcgagctggc	16	15	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:228646133G>A	uc001hsz.2	+	1	326	c.303G>A	c.(301-303)CTG>CTA	p.L101L	HIST3H2A_uc001hsy.2_5'Flank	NM_175055	NP_778225	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	101					nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		Prostate(94;0.183)				CCGTTCGCCTGCTGCTGCCCG	0.652													A	228646133	G	A	228646133	2	1	61	1	0	0	0	0	0	0	0	1	7183	1306	46	2		2	HIST3H2BB	1	228646133	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	299918	228646133	20604488	89	43875											
NUP133	55746	broad.mit.edu	37	chr1	229580678	229580678	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccatcttttaaaagtttcTgtaagatcttcacaaatata	3	7	4	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:229580678T>C	uc001htn.2	-	25	3409	c.3317A>G	c.(3316-3318)CAG>CGG	p.Q1106R		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1106					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TAAAAGTTTCTGTAAGATCTT	0.284													C	229580678	T	C	229580678	3	2	61	1	0	0	0	0	1	0	0	0	10754	1580	55	3	161	3	NUP133	1	229580678	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	934545	229580678	19669943	90	43876											
NUP133	55746	broad.mit.edu	37	chr1	229593999	229593999	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agggttttcttctttgcaaaGtaacgagtttccatatttgc	8	7	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:229593999G>C	uc001htn.2	-	21	2981	c.2889C>G	c.(2887-2889)TAC>TAG	p.Y963*	uc001hto.1_5'Flank	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	963					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TCTTTGCAAAGTAACGAGTTT	0.373													C	229593999	G	C	229593999	4	2	61	1	0	0	0	0	0	1	0	0	10754	1024	36	5	605	5	NUP133	1	229593999	Nonsense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	13321	229593999	19656622	91	43877											
RYR2	6262	broad.mit.edu	37	chr1	237872259	237872259	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggcagctacggtggtgTctgaggaagaccacctgaaa	13	8	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:237872259T>C	uc001hyl.1	+	69	10123	c.10003T>C	c.(10003-10005)TCT>CCT	p.S3335P	RYR2_uc010pxz.1_Missense_Mutation_p.S290P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3335					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TACGGTGGTGTCTGAGGAAGA	0.478													C	237872259	T	C	237872259	3	2	61	1	0	0	0	0	1	0	0	0	13769	1667	58	3	10277	3	RYR2	1	237872259	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	8278260	237872259	11378362	92	43878											
EXO1	9156	broad.mit.edu	37	chr1	242015657	242015657	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgggatcaagcctattctCgtatttgatggatgtacttt	9	7	2	1	rs141548668		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:242015657C>T	uc001hzh.2	+	5	765	c.225C>T	c.(223-225)CTC>CTT	p.L75L	EXO1_uc001hzi.2_Silent_p.L75L|EXO1_uc001hzj.2_Silent_p.L75L|EXO1_uc009xgq.2_Silent_p.L75L	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	75	N-domain.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGCCTATTCTCGTATTTGATG	0.323								Direct_reversal_of_damage|Editing_and_processing_nucleases					T	242015657	C	T	242015657	2	4	61	1	0	0	0	0	0	0	0	1	5300	871	31	1		1	EXO1	1	242015657	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	4143398	242015657	7234964	93	43879											
SDCCAG8	10806	broad.mit.edu	37	chr1	243493858	243493858	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggctttaatccagtgtgAccagttgaggaaggagctgg	15	7	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:243493858A>C	uc001hzw.2	+	10	1241	c.1085A>C	c.(1084-1086)GAC>GCC	p.D362A	SDCCAG8_uc010pyk.1_Missense_Mutation_p.D217A|SDCCAG8_uc010pyl.1_Missense_Mutation_p.D174A|SDCCAG8_uc001hzx.2_Missense_Mutation_p.D174A	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	362	Potential.|Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding				0	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		ATCCAGTGTGACCAGTTGAGG	0.398													C	243493858	A	C	243493858	3	2	61	1	0	0	0	0	1	0	0	0	13959	275	10	5	1123	5	SDCCAG8	1	243493858	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	1478201	243493858	5756763	94	43880											
KIF26B	55083	broad.mit.edu	37	chr1	245852058	245852058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcgagaacagcagctccGtgggcggcaggtgccggagc	18	12	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:245852058G>A	uc001ibf.1	+	12	6213	c.5773G>A	c.(5773-5775)GTG>ATG	p.V1925M	KIF26B_uc001ibg.1_Missense_Mutation_p.V1543M|KIF26B_uc001ibh.1_Missense_Mutation_p.V1167M	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1925					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGCAGCTCCGTGGGCGGCAG	0.721													A	245852058	G	A	245852058	3	1	61	1	0	0	0	0	1	0	0	0	8295	1145	40	1	5819	1	KIF26B	1	245852058	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	2358200	245852058	3398563	95	43881											
CNST	163882	broad.mit.edu	37	chr1	246810592	246810592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaccacatggaggagctGctctgcagcgctgaagccac	13	12	1	1	rs149614716	by1000genomes	TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr1:246810592G>A	uc001ibp.2	+	9	1467	c.1089G>A	c.(1087-1089)CTG>CTA	p.L363L	CNST_uc001ibo.3_Silent_p.L363L	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	363					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						TGGAGGAGCTGCTCTGCAGCG	0.597											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	246810592	G	A	246810592	2	1	61	1	0	0	0	0	0	0	0	1	3634	1306	46	2		2	CNST	1	246810592	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	958534	246810592	2440029	96	43882											
COLEC11	78989	broad.mit.edu	37	chr2	3691583	3691583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcaacaagtggcgcagcGgtgagcccaacaatgcctac	10	14	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:3691583G>A	uc002qya.2	+	7	839	c.691G>A	c.(691-693)GGT>AGT	p.G231S	COLEC11_uc002qxz.2_Missense_Mutation_p.G228S|COLEC11_uc002qyb.2_Missense_Mutation_p.G207S|COLEC11_uc002qyc.2_Missense_Mutation_p.G207S|COLEC11_uc010ewo.2_Missense_Mutation_p.G183S|COLEC11_uc010ewp.2_Missense_Mutation_p.G205S|COLEC11_uc010ewq.2_Missense_Mutation_p.G181S|COLEC11_uc010ewr.2_Missense_Mutation_p.G181S|COLEC11_uc010ews.2_Missense_Mutation_p.G157S	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	collectin sub-family member 11 isoform a	231	C-type lectin.					collagen	mannose binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GTGGCGCAGCGGTGAGCCCAA	0.622													A	3691583	G	A	3691583	3	1	61	1	0	0	0	0	1	0	0	0	3711	1116	39	1	796	1	COLEC11	2	3691583	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08		3691583	239507790	97	43883											
ADAM17	6868	broad.mit.edu	37	chr2	9666322	9666322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccaccaataatttacacGtgttcttcatgggatctggg	8	10	3	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:9666322G>A	uc002qzu.2	-	6	854	c.671C>T	c.(670-672)ACG>ATG	p.T224M	ADAM17_uc010ewy.2_Missense_Mutation_p.T224M|ADAM17_uc010ewz.2_Intron|ADAM17_uc010exa.2_5'Flank|ADAM17_uc010exb.1_3'UTR	NM_003183	NP_003174	P78536	ADA17_HUMAN	a disintegrin and metalloprotease domain 17	224	Peptidase M12B.|Extracellular (Potential).				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			lung(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TAATTTACACGTGTTCTTCAT	0.373													A	9666322	G	A	9666322	3	1	61	1	0	0	0	0	1	0	0	0	238	1145	40	1	1859	1	ADAM17	2	9666322	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	5974739	9666322	233533051	98	43884											
NCOA1	8648	broad.mit.edu	37	chr2	24928069	24928069	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaaagtccagacatgcAacctttcatcatgggaattc	6	13	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:24928069A>C	uc002rfk.2	+	10	1322	c.1064A>C	c.(1063-1065)CAA>CCA	p.Q355P	NCOA1_uc010eye.2_Missense_Mutation_p.Q355P|NCOA1_uc002rfi.2_Missense_Mutation_p.Q204P|NCOA1_uc002rfj.2_Missense_Mutation_p.Q355P|NCOA1_uc002rfl.2_Missense_Mutation_p.Q355P	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	355									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGACATGCAACCTTTCATC	0.403			T	PAX3	alveolar rhadomyosarcoma								C	24928069	A	C	24928069	3	2	61	1	0	0	0	0	1	0	0	0	10228	130	5	5	1094	5	NCOA1	2	24928069	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	15261747	24928069	218271304	99	43885											
CIB4	130106	broad.mit.edu	37	chr2	26864136	26864136	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccgatctacccacctggtacTcttccaggtcctcccagtgc	7	18	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:26864136T>A	uc002rhm.2	-	1	76	c.47A>T	c.(46-48)GAG>GTG	p.E16V		NM_001029881	NP_001025052	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	16							calcium ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTGGTACTCTTCCAGGTC	0.542													A	26864136	T	A	26864136	3	1	61	1	0	0	0	0	1	0	0	0	3423	1551	54	5	538	5	CIB4	2	26864136	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	1936067	26864136	216335237	100	43886											
CLIP4	79745	broad.mit.edu	37	chr2	29379233	29379233	+	Frame_Shift_Del	DEL	A	A	-													gtccaaggattaatgacatcAaaaaaagatagtgcttctga							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:29379232_29379232CA>C	uc002rmv.3	+	9	1417	c.1178_1178CA>C	c.(1177-1179)tcafs	p.S393fs	CLIP4_uc002rmu.3_Frame_Shift_Del_p.S393fs|CLIP4_uc010ezm.1_Frame_Shift_Del_p.S393fs|CLIP4_uc002rmw.3_Non-coding_Transcript|CLIP4_uc010ymn.1_Frame_Shift_Del_p.S375fs	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	393								p.T392A(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TTAATGACATCAAAAAAAGAT	0.313													-	29379233	A	-	29379233	7	5	61	1	0	1	0	1	0	0	0	0	3535	117	5	0	1213	0	CLIP4	2	29379233	Frame_Shift_Del	DEL	A	TCGA-BR-8059-01A-11D-2340-08	2515097	29379233	213820140	101	43887											
CDKL4	344387	broad.mit.edu	37	chr2	39411785	39411785	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagaacttttcctcaagagTttcctgaaaaacaaggttaa	7	7	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:39411785T>C	uc002rrm.2	-	7	739	c.739A>G	c.(739-741)ACT>GCT	p.T247A	CDKL4_uc010fal.1_Missense_Mutation_p.T247A	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	247	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			ovary(1)	1		all_hematologic(82;0.248)				TCCTCAAGAGTTTCCTGAAAA	0.224													C	39411785	T	C	39411785	3	2	61	1	0	0	0	0	1	0	0	0	3156	1725	60	3	216	3	CDKL4	2	39411785	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	10032552	39411785	203787588	102	43888											
TSPYL6	388951	broad.mit.edu	37	chr2	54483113	54483113	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgggatcctggggcgcgAccccctcctctggaagccgg	15	16	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:54483113A>G	uc002rxr.2	-	1	297	c.176T>C	c.(175-177)GTC>GCC	p.V59A	ACYP2_uc002rxq.3_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	TSPY-like 6	59					nucleosome assembly	nucleus					0						CTGGGGCGCGACCCCCTCCTC	0.597													G	54483113	A	G	54483113	3	3	61	1	0	0	0	0	1	0	0	0	16660	275	10	3	1060	3	TSPYL6	2	54483113	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	15071328	54483113	188716260	103	43889											
BCL11A	53335	broad.mit.edu	37	chr2	60689254	60689254	+	Frame_Shift_Del	DEL	G	G	-													tctcggtggtggactaaacaGggggggagtgggtggaaagc							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:60689253_60689253AG>A	uc002sae.1	-	3	1022	c.794_794CT>T	c.(793-795)ctgfs	p.L265fs	BCL11A_uc002sab.3_Frame_Shift_Del_p.L265fs|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Frame_Shift_Del_p.L231fs|BCL11A_uc002sad.1_Frame_Shift_Del_p.L113fs|BCL11A_uc002saf.1_Frame_Shift_Del_p.L231fs	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	265	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGGACTAAACAGGGGGGGAGT	0.587			T	IGH@	B-CLL								-	60689254	G	-	60689254	7	5	61	1	0	1	0	1	0	0	0	0	1363	991	35	0	1824	0	BCL11A	2	60689254	Frame_Shift_Del	DEL	G	TCGA-BR-8059-01A-11D-2340-08	6206141	60689254	182510119	104	43890											
B3GNT2	10678	broad.mit.edu	37	chr2	62449456	62449457	+	Frame_Shift_Ins	INS	-	-	A													tccaaaagcagtagccaagaINSaaaaaatggaaaaggggaag							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:62449455_62449456G>GA	uc021vii.1	+	0	100_101	c.100_101G>GA	c.(100-102)gaafs	p.E34fs	B3GNT2_uc002sbs.3_Frame_Shift_Ins_p.E34fs	NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 (B3GNT2), mRNA.	34						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			CAGTAGCCAAGAAAAAAATGGA	0.406													A	62449457	-	A	62449456	7	5	61	1	0	1	1	0	0	0	0	0	1257	246	9	0	103	0	B3GNT2	2	62449456	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	1760202	62449456	180749917	105	43891											
ANKRD53	79998	broad.mit.edu	37	chr2	71209753	71209753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacaagaaggactttgccCgtgagatgacgaaaatgaag	13	6	0	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:71209753C>T	uc002shl.3	+	5	1030	c.829C>T	c.(829-831)CGT>TGT	p.R277C	ANKRD53_uc002shk.3_Missense_Mutation_p.R277C|ANKRD53_uc002shm.3_Missense_Mutation_p.R188C	NM_001115116	NP_001108588	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53 isoform a	277											0						GGACTTTGCCCGTGAGATGAC	0.537													T	71209753	C	T	71209753	3	4	61	1	0	0	0	0	1	0	0	0	679	652	23	1	847	1	ANKRD53	2	71209753	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	8760297	71209753	171989620	106	43892											
DQX1	165545	broad.mit.edu	37	chr2	74746867	74746867	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctggcaccaagcctcatctGctccacctaggagaggaaag	10	14	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:74746867G>C	uc010yrw.1	-	10	1787	c.1622C>G	c.(1621-1623)GCA>GGA	p.A541G	DQX1_uc002smc.2_Missense_Mutation_p.A102G	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	541						nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						AGCCTCATCTGCTCCACCTAG	0.507													C	74746867	G	C	74746867	3	2	61	1	0	0	0	0	1	0	0	0	4751	1319	46	5	543	5	DQX1	2	74746867	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	3537114	74746867	168452506	107	43893											
LRRTM4	80059	broad.mit.edu	37	chr2	77746530	77746530	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatgatgagtttccgaagGcctttaaattgttcagattg	9	5	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:77746530G>A	uc002snr.2	-	3	880	c.465C>T	c.(463-465)GGC>GGT	p.G155G	LRRTM4_uc002snq.2_Silent_p.G155G|LRRTM4_uc002sns.2_Silent_p.G155G|LRRTM4_uc002snt.2_Silent_p.G156G	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	155	LRR 4.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		GTTTCCGAAGGCCTTTAAATT	0.393													A	77746530	G	A	77746530	2	1	61	1	0	0	0	0	0	0	0	1	9042	1190	42	2		2	LRRTM4	2	77746530	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	2999663	77746530	165452843	108	43894											
REG1B	5968	broad.mit.edu	37	chr2	79312400	79312400	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaagattcatccttccatTtcttgaatcctatggtacaa	4	11	2	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:79312400T>G	uc002sny.2	-	6	555	c.443A>C	c.(442-444)AAA>ACA	p.K148T		NM_006507	NP_006498	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta precursor	148	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|skin(1)	2						ATCCTTCCATTTCTTGAATCC	0.403													G	79312400	T	G	79312400	3	3	61	1	0	0	0	0	1	0	0	0	13211	1841	64	5	61	5	REG1B	2	79312400	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	1565870	79312400	163886973	109	43895											
POLR1A	25885	broad.mit.edu	37	chr2	86315779	86315779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtgttcctttcggacaaCggatcgcccggtcctgtgca	12	12	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:86315779C>T	uc002sqs.2	-	6	1019	c.640G>A	c.(640-642)GTT>ATT	p.V214I	POLR1A_uc002sqv.2_Missense_Mutation_p.V214I	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	214					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						TTTCGGACAACGGATCGCCCG	0.512													T	86315779	C	T	86315779	3	4	61	1	0	0	0	0	1	0	0	0	12209	536	19	1	4638	1	POLR1A	2	86315779	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	7003379	86315779	156883594	110	43896											
SLC9A2	6549	broad.mit.edu	37	chr2	103281692	103281692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcttcttgggctttatagCggcatttactactcgattca	7	10	3	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:103281692C>T	uc002tca.2	+	3	1029	c.887C>T	c.(886-888)GCG>GTG	p.A296V		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	296	Helical; Name=H/M6; (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						GGCTTTATAGCGGCATTTACT	0.433													T	103281692	C	T	103281692	3	4	61	1	0	0	0	0	1	0	0	0	14712	768	27	1	897	1	SLC9A2	2	103281692	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	16965913	103281692	139917681	111	43897											
PSD4	23550	broad.mit.edu	37	chr2	113953852	113953852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcagggcatcctggctcGgaaaatgcatcaagatgcag	12	10	1	1	rs139776921	by1000genomes	TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:113953852G>A	uc002tjc.2	+	12	2537	c.2354G>A	c.(2353-2355)CGG>CAG	p.R785Q	PSD4_uc002tjd.2_Missense_Mutation_p.R406Q|PSD4_uc002tje.2_Missense_Mutation_p.R756Q|PSD4_uc002tjf.2_Missense_Mutation_p.R406Q|PSD4_uc002tjg.2_5'Flank|PSD4_uc010yxs.1_5'Flank|PSD4_uc002tjh.2_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	785	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						ATCCTGGCTCGGAAAATGCAT	0.607													A	113953852	G	A	113953852	3	1	61	1	0	0	0	0	1	0	0	0	12649	1116	39	1	2396	1	PSD4	2	113953852	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	10672160	113953852	129245521	112	43898											
RAB6C	84084	broad.mit.edu	37	chr2	130738406	130738406	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaaccttttcccttcaTtaataacgttttgcaattca	4	10	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:130738406T>C	uc002tpx.1	+	1	1172	c.718T>C	c.(718-720)TTA>CTA	p.L240L	uc002tpw.1_5'Flank	NM_032144	NP_115520	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	240					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			lung(1)	1	Colorectal(110;0.1)					TTTCCCTTCATTAATAACGTT	0.403													C	130738406	T	C	130738406	2	2	61	1	0	0	0	0	0	0	0	1	12953	1490	52	3		3	RAB6C	2	130738406	Silent	SNP	T	TCGA-BR-8059-01A-11D-2340-08	16784554	130738406	112460967	113	43899											
THSD7B	80731	broad.mit.edu	37	chr2	137872832	137872832	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgtactgtgcccagagcgtAccagcagctgccgcactgag	13	13	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:137872832A>T	uc002tva.1	+	4	1245	c.1245A>T	c.(1243-1245)GTA>GTT	p.V415V	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.V305V	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCCAGAGCGTACCAGCAGCTG	0.612													T	137872832	A	T	137872832	2	4	61	1	0	0	0	0	0	0	0	1	15877	378	14	5		5	THSD7B	2	137872832	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	7134426	137872832	105326541	114	43900											
LRP1B	53353	broad.mit.edu	37	chr2	141260572	141260572	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttaaaggtgcttcatcagaAtggtcaggacagtcaaagtc	10	7	4	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:141260572A>T	uc002tvj.1	-	54	9594	c.8622T>A	c.(8620-8622)CAT>CAA	p.H2874Q		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2874	Extracellular (Potential).|LDL-receptor class A 19.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTCATCAGAATGGTCAGGAC	0.388										TSP Lung(27;0.18)			T	141260572	A	T	141260572	3	4	61	1	0	0	0	0	1	0	0	0	8955	98	4	5	5329	5	LRP1B	2	141260572	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	3387740	141260572	101938801	115	43901											
ZEB2	9839	broad.mit.edu	37	chr2	145156151	145156152	+	Missense_Mutation	DNP	TC	TC	AA													gattatttgaatttgaaaatTccttcttgataaaagtcaag							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:145156151_145156152TC>AA	uc002tvu.2	-	8	3082_3083	c.2602_2603GA>TT	c.(2602-2604)GAA>TTA	p.E868L	ZEB2_uc002tvv.2_Missense_Mutation_p.E862L|ZEB2_uc010zbm.1_Missense_Mutation_p.E839L|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.E897L	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	868						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATTTGAAAATTCCTTCTTGATA	0.371													AA	145156152	TC	AA	145156151	3	1	61	1	0	0	0	0	1	0	0	0	17621	1783	62	5	1053	5	ZEB2	2	145156151	Missense_Mutation	DNP	TC	TCGA-BR-8059-01A-11D-2340-08	3895579	145156151	98043222	116	43902											
ACVR2A	92	broad.mit.edu	37	chr2	148683728	148683729	+	Frame_Shift_Ins	INS	-	-	G													agattattggcagaaacatgINSctgtaagttatccagttagc							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:148683727_148683728T>TG	uc002twg.3	+	10	1613_1614	c.1344_1345T>TG	c.(1342-1347)catgctfs	p.H448fs	ACVR2A_uc010zbn.2_Frame_Shift_Ins_p.H340fs|ACVR2A_uc002twh.3_Frame_Shift_Ins_p.H448fs	NM_001616	NP_001607	P27037	AVR2A_HUMAN	Homo sapiens activin A receptor, type IIA (ACVR2A), mRNA.	448	Protein kinase.				BMP signaling pathway|activin receptor signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GGCAGAAACATGCTGTAAGTTA	0.351													G	148683729	-	G	148683728	7	5	61	1	0	1	1	0	0	0	0	0	223	1319	46	0	1383	0	ACVR2A	2	148683728	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	3527577	148683728	94515645	117	43903											
MBD5	55777	broad.mit.edu	37	chr2	149240713	149240713	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctccatagccatagcGggcaccaaccaccctgccat	6	18	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:149240713G>A	uc002twm.3	+	10	3541	c.2553G>A	c.(2551-2553)GCG>GCA	p.A851A	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Silent_p.A851A|MBD5_uc002two.2_5'Flank|MBD5_uc002twp.2_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	851						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TAGCCATAGCGGGCACCAACC	0.453													A	149240713	G	A	149240713	2	1	61	1	0	0	0	0	0	0	0	1	9347	1103	39	1		1	MBD5	2	149240713	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	556985	149240713	93958660	118	43904											
RIF1	55183	broad.mit.edu	37	chr2	152293810	152293810	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttttccaaacatgcaaaTacacttatcactgctgttca	3	10	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:152293810T>C	uc002txm.2	+	13	1558	c.1428T>C	c.(1426-1428)AAT>AAC	p.N476N	RIF1_uc002txl.2_Silent_p.N476N|RIF1_uc010fnv.1_Silent_p.N440N|RIF1_uc002txn.2_Silent_p.N476N|RIF1_uc002txo.2_Silent_p.N476N|RIF1_uc010zby.1_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	476					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AACATGCAAATACACTTATCA	0.343													C	152293810	T	C	152293810	2	2	61	1	0	0	0	0	0	0	0	1	13359	1403	49	3		3	RIF1	2	152293810	Silent	SNP	T	TCGA-BR-8059-01A-11D-2340-08	3053097	152293810	90905563	119	43905											
PLA2R1	22925	broad.mit.edu	37	chr2	160873181	160873182	+	Frame_Shift_Ins	INS	-	-	A													cctgcttttttacaaatgtaINSaaaaagtctttcttcacaat					rs140427239	byFrequency	TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:160873180_160873181T>TA	uc002ube.2	-	8	1707_1708	c.1495_1496A>TA	c.(1495-1497)tacfs	p.Y499fs	PLA2R1_uc010zcp.2_Frame_Shift_Ins_p.Y499fs|PLA2R1_uc002ubf.3_Frame_Shift_Ins_p.Y499fs	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	499	C-type lectin 2.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTTACAAATGTAAAAAAGTCTT	0.401													A	160873182	-	A	160873181	7	5	61	1	0	1	1	0	0	0	0	0	12010	362	13	0	2992	0	PLA2R1	2	160873181	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	8579371	160873181	82326192	120	43906											
PSMD14	10213	broad.mit.edu	37	chr2	162227710	162227710	+	Frame_Shift_Del	DEL	C	C	-													atggttgttggttggtatcaCagtcaccctggctttggttg							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:162227709_162227709AC>A	uc002ubu.2	+	6	805	c.338_338AC>A	c.(337-339)cacfs	p.H113fs		NM_005805	NP_005796	O00487	PSDE_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 (PSMD14), mRNA.	113	MPN.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|viral reproduction	proteasome complex	endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						GGTTGGTATCACAGTCACCCT	0.453													-	162227710	C	-	162227710	7	5	61	1	0	1	0	1	0	0	0	0	12697	477	17	0	357	0	PSMD14	2	162227710	Frame_Shift_Del	DEL	C	TCGA-BR-8059-01A-11D-2340-08	1354529	162227710	80971663	121	43907											
COBLL1	22837	broad.mit.edu	37	chr2	165548759	165548759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttggcagcagcctctcccGaacggattgcagtcagcaaa	10	12	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:165548759G>A	uc010zcw.1	-	16	3711	c.3587C>T	c.(3586-3588)TCG>TTG	p.S1196L	COBLL1_uc002ucp.2_Missense_Mutation_p.S1129L|COBLL1_uc002ucq.2_Missense_Mutation_p.S1091L|COBLL1_uc010zcx.1_Missense_Mutation_p.S1137L|COBLL1_uc002ucn.2_Missense_Mutation_p.S557L|COBLL1_uc002uco.2_Missense_Mutation_p.S860L	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	1167	WH2.									ovary(2)|pancreas(1)	3						AGCCTCTCCCGAACGGATTGC	0.428													A	165548759	G	A	165548759	3	1	61	1	0	0	0	0	1	0	0	0	3654	1059	37	1	122	1	COBLL1	2	165548759	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	3321049	165548759	77650614	122	43908											
TTC21B	79809	broad.mit.edu	37	chr2	166767931	166767931	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaggtcatagcaaagataAttcttttgtccagttttcag	8	8	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:166767931A>G	uc002udk.2	-	18	2500	c.2367T>C	c.(2365-2367)AAT>AAC	p.N789N		NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	789	TPR 10.					cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						AGCAAAGATAATTCTTTTGTC	0.378													G	166767931	A	G	166767931	2	3	61	1	0	0	0	0	0	0	0	1	16685	98	4	3		3	TTC21B	2	166767931	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	1219172	166767931	76431442	123	43909											
XIRP2	129446	broad.mit.edu	37	chr2	168104263	168104263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaatctgctggtaaaaccGttggaaagcaacagacatat	8	9	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:168104263G>A	uc002udx.2	+	8	6379	c.6361G>A	c.(6361-6363)GTT>ATT	p.V2121I	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.V1946I|XIRP2_uc010fpq.2_Missense_Mutation_p.V1899I|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1946					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TGGTAAAACCGTTGGAAAGCA	0.353													A	168104263	G	A	168104263	3	1	61	1	0	0	0	0	1	0	0	0	17427	1145	40	1	6391	1	XIRP2	2	168104263	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1336332	168104263	75095110	124	43910											
ABCB11	8647	broad.mit.edu	37	chr2	169826018	169826018	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatctgcagctctgaccgtaGacaagcgatgagcaactgaa	10	10	2	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:169826018G>A	uc002ueo.1	-	16	1979	c.1853C>T	c.(1852-1854)TCT>TTT	p.S618F	ABCB11_uc010zda.1_Missense_Mutation_p.S60F|ABCB11_uc010zdb.1_Missense_Mutation_p.S94F	NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	618	Cytoplasmic (Potential).|ABC transporter 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TCTGACCGTAGACAAGCGATG	0.443													A	169826018	G	A	169826018	3	1	61	1	0	0	0	0	1	0	0	0	42	942	33	4	2164	4	ABCB11	2	169826018	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1721755	169826018	73373355	125	43911											
LRP2	4036	broad.mit.edu	37	chr2	170083054	170083054	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggattaagggagattcCaaaaattatatgttgcctta	8	6	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:170083054C>G	uc002ues.2	-	32	5485	c.5272G>C	c.(5272-5274)GGA>CGA	p.G1758R		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1758	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGGGAGATTCCAAAAATTATA	0.358													G	170083054	C	G	170083054	3	3	61	1	0	0	0	0	1	0	0	0	8956	603	21	5	8887	5	LRP2	2	170083054	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	257036	170083054	73116319	126	43912											
TTN	7273	broad.mit.edu	37	chr2	179411492	179411492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtagttgcacttcagccagcGaccatctcctacctcactga	7	15	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:179411492G>A	uc010zfg.1	-	290	87183	c.86959C>T	c.(86959-86961)CGC>TGC	p.R28987C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R22682C|TTN_uc010zfi.1_Missense_Mutation_p.R22615C|TTN_uc010zfj.1_Missense_Mutation_p.R22490C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29914							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGCCAGCGACCATCTCCT	0.488													A	179411492	G	A	179411492	3	1	61	1	0	0	0	0	1	0	0	0	16732	1058	37	1	13404	1	TTN	2	179411492	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	9328438	179411492	63787881	127	43913											
TTN	7273	broad.mit.edu	37	chr2	179415859	179415859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagttgcatctcacccagcGttcatttccttgccgtttct	6	13	3	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:179415859G>A	uc010zfg.1	-	285	83919	c.83695C>T	c.(83695-83697)CGC>TGC	p.R27899C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R21594C|TTN_uc010zfi.1_Missense_Mutation_p.R21527C|TTN_uc010zfj.1_Missense_Mutation_p.R21402C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28826							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R21402C(1)|p.R27897C(1)		ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCACCCAGCGTTCATTTCCT	0.463													A	179415859	G	A	179415859	3	1	61	1	0	0	0	0	1	0	0	0	16732	1145	40	1	16688	1	TTN	2	179415859	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	4367	179415859	63783514	128	43914											
TTN	7273	broad.mit.edu	37	chr2	179440722	179440722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggttgatgttatctttGgtccatgtcacttcaggagc	10	8	4	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:179440722G>A	uc010zfg.1	-	275	62657	c.62433C>T	c.(62431-62433)ACC>ACT	p.T20811T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T14506T|TTN_uc010zfi.1_Silent_p.T14439T|TTN_uc010zfj.1_Silent_p.T14314T|uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21738							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTATCTTTGGTCCATGTCA	0.398													A	179440722	G	A	179440722	2	1	61	1	0	0	0	0	0	0	0	1	16732	1335	47	4		4	TTN	2	179440722	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	24863	179440722	63758651	129	43915											
TTN	7273	broad.mit.edu	37	chr2	179454276	179454276	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcaaccatgtagtgagTttctttaatgcttcctttat	6	8	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:179454276T>A	uc010zfg.1	-	253	54696	c.54472A>T	c.(54472-54474)ACT>TCT	p.T18158S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T11853S|TTN_uc010zfi.1_Missense_Mutation_p.T11786S|TTN_uc010zfj.1_Missense_Mutation_p.T11661S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19085							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTAGTGAGTTTCTTTAATG	0.428													A	179454276	T	A	179454276	3	1	61	1	0	0	0	0	1	0	0	0	16732	1725	60	5	46039	5	TTN	2	179454276	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	13554	179454276	63745097	130	43916											
TTN	7273	broad.mit.edu	37	chr2	179481230	179481230	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccatgttttccggctgacTtctcgtttttcaacaacgta	7	11	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:179481230T>G	uc010zfg.1	-	206	40808	c.40584A>C	c.(40582-40584)GAA>GAC	p.E13528D	TTN_uc010zfh.1_Missense_Mutation_p.E7223D|TTN_uc010zfi.1_Missense_Mutation_p.E7156D|TTN_uc010zfj.1_Missense_Mutation_p.E7031D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14455							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCGGCTGACTTCTCGTTTTT	0.433													G	179481230	T	G	179481230	3	3	61	1	0	0	0	0	1	0	0	0	16732	1606	56	5	59829	5	TTN	2	179481230	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	26954	179481230	63718143	131	43917											
TTN	7273	broad.mit.edu	37	chr2	179592042	179592042	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgcattcaagtcgtgaagAgtcacctgctttcacaattt	7	10	3	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:179592042A>G	uc010zfg.1	-	66	16542	c.16318T>C	c.(16318-16320)TCT>CCT	p.S5440P	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S2101P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6367							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTCGTGAAGAGTCACCTGCT	0.408													G	179592042	A	G	179592042	3	3	61	1	0	0	0	0	1	0	0	0	16732	304	11	3	84655	3	TTN	2	179592042	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	110812	179592042	63607331	132	43918											
TTN	7273	broad.mit.edu	37	chr2	179596518	179596518	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctacaaacttgaggatcTgcaggctaaccagatgatcc	9	11	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:179596518T>C	uc010zfg.1	-	55	13576	c.13352A>G	c.(13351-13353)CAG>CGG	p.Q4451R	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q1112R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5378							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGAGGATCTGCAGGCTAAC	0.488													C	179596518	T	C	179596518	3	2	61	1	0	0	0	0	1	0	0	0	16732	1580	55	3	87665	3	TTN	2	179596518	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	4476	179596518	63602855	133	43919											
TTN	7273	broad.mit.edu	37	chr2	179641449	179641459	+	Frame_Shift_Del	DEL	AAGTCTTAAGG	AAGTCTTAAGG	-													tgggcaggcccaaagcgcttAagtcttaaggaagtgagttt							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:179641448_179641458TAAGTCTTAAGG>T	uc021vsy.1	-	27	5358_5368	c.5133_5143CCTTAAGACTTA>A	c.(5131-5145)tccttaagacttaagfs	p.S1711fs	TTN_uc021vsz.1_Frame_Shift_Del_p.S1665fs|TTN_uc021vta.1_Frame_Shift_Del_p.S1665fs|TTN_uc021vtb.1_Frame_Shift_Del_p.S1665fs|TTN_uc002unb.2_Frame_Shift_Del_p.S1711fs|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1711	Ig-like 8.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAAAGCGCTTAAGTCTTAAGGAAGTGAGTT	0.474													-	179641459	AAGTCTTAAGG	-	179641449	7	5	61	1	0	1	0	1	0	0	0	0	16732	349	13	0	106186	0	TTN	2	179641449	Frame_Shift_Del	DEL	AAGTCTTAAGG	TCGA-BR-8059-01A-11D-2340-08	44931	179641449	63557924	134	43920											
ZNF804A	91752	broad.mit.edu	37	chr2	185800571	185800571	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgtgagagaaaactgtaatGaaatttcccaacgagttgtt	9	6	0	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:185800571G>T	uc002uph.2	+	4	1042	c.448G>T	c.(448-450)GAA>TAA	p.E150*		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	150						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						AAACTGTAATGAAATTTCCCA	0.373													T	185800571	G	T	185800571	4	4	61	1	0	0	0	0	0	1	0	0	18167	1291	45	5	462	5	ZNF804A	2	185800571	Nonsense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	6159122	185800571	57398802	135	43921											
ANKAR	150709	broad.mit.edu	37	chr2	190602494	190602494	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttaatattggaaagtggaaTaatgaccatatctatttttg	7	4	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:190602494T>C	uc002uqw.1	+	17	3296	c.3296T>C	c.(3295-3297)ATA>ACA	p.I1099T	ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA|ANKAR_uc002uqy.1_Missense_Mutation_p.I266T	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1170						integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GAAAGTGGAATAATGACCATA	0.323													C	190602494	T	C	190602494	3	2	61	1	0	0	0	0	1	0	0	0	623	1406	49	3	3575	3	ANKAR	2	190602494	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	4801923	190602494	52596879	136	43922											
HECW2	57520	broad.mit.edu	37	chr2	197157452	197157452	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcttcaaacacgtgttgTttgtaaacatgcggtaggca	11	7	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:197157452T>C	uc002utm.1	-	14	3020	c.2837A>G	c.(2836-2838)AAC>AGC	p.N946S	HECW2_uc002utl.1_Missense_Mutation_p.N590S	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	946	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						ACACGTGTTGTTTGTAAACAT	0.468													C	197157452	T	C	197157452	3	2	61	1	0	0	0	0	1	0	0	0	7043	1725	60	3	1945	3	HECW2	2	197157452	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	6554958	197157452	46041921	137	43923											
CASP8	841	broad.mit.edu	37	chr2	202137437	202137438	+	Frame_Shift_Del	DEL	TC	TC	-													gttggacatcctgaaaagagTctgtgcccaaatcaacaaga							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:202137436_202137437GTC>G	uc002uxr.1	+	4	696_697	c.487_488GTC>G	c.(487-489)gtcfs	p.V163fs	CASP8_uc010ftc.1_Frame_Shift_Del_p.V163fs|CASP8_uc002uxo.1_Frame_Shift_Del_p.V163fs|CASP8_uc002uxq.1_Frame_Shift_Del_p.V163fs|CASP8_uc002uxp.1_Frame_Shift_Del_p.V195fs|CASP8_uc002uxs.1_Frame_Shift_Del_p.V163fs|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Frame_Shift_Del_p.V222fs|CASP8_uc010ftd.1_Frame_Shift_Del_p.V60fs|CASP8_uc002uxv.1_Frame_Shift_Del_p.V163fs|CASP8_uc002uxw.1_Frame_Shift_Del_p.V163fs|CASP8_uc021vuy.1_3'UTR|CASP8_uc021vuz.1_Frame_Shift_Del_p.V163fs|CASP8_uc021vva.1_Frame_Shift_Del_p.V163fs|CASP8_uc010ftf.2_Frame_Shift_Del_p.V163fs|CASP8_uc010fte.1_Frame_Shift_Del_p.V60fs	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	163	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCTGAAAAGAGTCTGTGCCCAA	0.441										HNSCC(4;0.00038)			-	202137438	TC	-	202137437	7	5	61	1	0	1	0	1	0	0	0	0	2677	1667	58	0	779	0	CASP8	2	202137437	Frame_Shift_Del	DEL	TC	TCGA-BR-8059-01A-11D-2340-08	4979985	202137437	41061936	138	43924											
MAP2	4133	broad.mit.edu	37	chr2	210559927	210559927	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaataccaacagatgcatcCtctgagaaagcagagaaggg	10	9	2	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:210559927C>T	uc002vde.1	+	7	3281	c.3033C>T	c.(3031-3033)TCC>TCT	p.S1011S	MAP2_uc002vdc.1_Silent_p.S1011S|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.S1007S	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1011					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CAGATGCATCCTCTGAGAAAG	0.443													T	210559927	C	T	210559927	2	4	61	1	0	0	0	0	0	0	0	1	9235	668	24	4		4	MAP2	2	210559927	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	8422490	210559927	32639446	139	43925											
BARD1	580	broad.mit.edu	37	chr2	215593476	215593476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagccttccagactttgCcctgccgaaccctctctggg	10	15	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:215593476C>T	uc002veu.2	-	11	2393	c.2258G>A	c.(2257-2259)GGC>GAC	p.G753D	BARD1_uc010zjm.1_3'UTR	NM_000465	NP_000456	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	753	BRCT 2.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCAGACTTTGCCCTGCCGAAC	0.453									Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				T	215593476	C	T	215593476	3	4	61	1	0	0	0	0	1	0	0	0	1312	739	26	2	79	2	BARD1	2	215593476	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	5033549	215593476	27605897	140	43926											
ABCA12	26154	broad.mit.edu	37	chr2	215896544	215896544	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tagaaataaacaaagacttaCtgtgcagccagactgcttgg	9	8	0	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:215896544C>G	uc002vew.2	-	9	1281	c.1061_splice	c.e9+1	p.Q354_splice	ABCA12_uc002vev.2_Intron|ABCA12_uc010zjn.1_Splice_Site	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12						cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAAAGACTTACTGTGCAGCCA	0.343													G	215896544	C	G	215896544	5	3	61	1	0	0	0	0	0	0	1	0	30	579	20	5	6905	5	ABCA12	2	215896544	Splice_Site	SNP	C	TCGA-BR-8059-01A-11D-2340-08	303068	215896544	27302829	141	43927											
C2orf62	375307	broad.mit.edu	37	chr2	219222808	219222808	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaacagcacagccaagactTcatcaaggtacttcccaggg	10	12	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:219222808T>C	uc002vhr.2	+	4	397	c.368T>C	c.(367-369)TTC>TCC	p.F123S	C2orf62_uc002vhs.2_RNA	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	hypothetical protein LOC375307	123											0		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCAAGACTTCATCAAGGTA	0.512													C	219222808	T	C	219222808	3	2	61	1	0	0	0	0	1	0	0	0	2181	1783	62	3	382	3	C2orf62	2	219222808	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	3326264	219222808	23976565	142	43928											
PLCD4	84812	broad.mit.edu	37	chr2	219480484	219480484	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgtccctgctgcaagacCgtgagtgccggggcccctgc	15	15	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:219480484C>T	uc002vij.1	+	2	217	c.22C>T	c.(22-24)CAG>TAG	p.Q8*	PLCD4_uc010zkj.1_Missense_Mutation_p.L8F	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	8					intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)	3		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCTGCAAGACCGTGAGTGCCG	0.597													T	219480484	C	T	219480484	4	4	61	1	0	0	0	0	0	1	0	0	12033	666	23	1	24	1	PLCD4	2	219480484	Nonsense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	257676	219480484	23718889	143	43929											
TMEM198	130612	broad.mit.edu	37	chr2	220412635	220412635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgccgctgactacttcGccgagctgctactgctgggg	12	15	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:220412635G>A	uc002vme.2	+	4	1159	c.574G>A	c.(574-576)GCC>ACC	p.A192T	TMEM198_uc002vmf.2_Missense_Mutation_p.A192T	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	transmembrane protein 198	192	Helical; (Potential).|Leu-rich.					integral to membrane				ovary(1)	1		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGACTACTTCGCCGAGCTGCT	0.701													A	220412635	G	A	220412635	3	1	61	1	0	0	0	0	1	0	0	0	16116	1087	38	1	580	1	TMEM198	2	220412635	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	932151	220412635	22786738	144	43930											
PAX3	5077	broad.mit.edu	37	chr2	223086046	223086046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaatgagatggttgaaagCcatcagttgattggccccag	14	7	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:223086046C>T	uc010fwo.2	-	6	1219	c.853G>A	c.(853-855)GCT>ACT	p.A285T	PAX3_uc002vmt.1_Missense_Mutation_p.A285T|PAX3_uc002vmy.1_Missense_Mutation_p.A284T|PAX3_uc002vmv.1_Missense_Mutation_p.A285T|PAX3_uc002vmw.1_Missense_Mutation_p.A285T|PAX3_uc002vmx.1_Missense_Mutation_p.A285T	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	285					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGTTGAAAGCCATCAGTTGA	0.502			T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						T	223086046	C	T	223086046	3	4	61	1	0	0	0	0	1	0	0	0	11480	739	26	2	712	2	PAX3	2	223086046	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2673411	223086046	20113327	145	43931											
SGPP2	130367	broad.mit.edu	37	chr2	223339343	223339343	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tactattacctattccaattTtcagctgctttgggccaaga	6	10	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:223339343T>G	uc010zlo.1	+	2	276	c.276T>G	c.(274-276)TTT>TTG	p.F92L	SGPP2_uc010zlp.1_5'UTR	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphotase 2	92	Helical; (Potential).				sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|skin(1)	2		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		TATTCCAATTTTCAGCTGCTT	0.368													G	223339343	T	G	223339343	3	3	61	1	0	0	0	0	1	0	0	0	14220	1838	64	5	282	5	SGPP2	2	223339343	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	253297	223339343	19860030	146	43932											
COL6A3	1293	broad.mit.edu	37	chr2	238280823	238280823	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcaggaactccaccttgggGtcatcgctgaactggatgac	12	11	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr2:238280823G>C	uc002vwl.2	-	9	4122	c.3837C>G	c.(3835-3837)GAC>GAG	p.D1279E	COL6A3_uc002vwo.2_Missense_Mutation_p.D1073E|COL6A3_uc010znj.1_Missense_Mutation_p.D672E|COL6A3_uc002vwq.2_Missense_Mutation_p.D1073E|COL6A3_uc002vwr.2_Missense_Mutation_p.D872E	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1279	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCACCTTGGGGTCATCGCTGA	0.602													C	238280823	G	C	238280823	3	2	61	1	0	0	0	0	1	0	0	0	3701	1252	44	5	5887	5	COL6A3	2	238280823	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	14941480	238280823	4918550	147	43933											
SRGAP3	9901	broad.mit.edu	37	chr3	9027389	9027389	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggacagggctggcttgaaGgtggtcatcatctcggtgga	17	8	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:9027389G>A	uc003brf.1	-	22	3790	c.3114C>T	c.(3112-3114)ACC>ACT	p.T1038T	SRGAP3_uc003brg.1_Silent_p.T1014T	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	1038					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CTGGCTTGAAGGTGGTCATCA	0.721			T	RAF1	pilocytic astrocytoma								A	9027389	G	A	9027389	2	1	61	1	0	0	0	0	0	0	0	1	15146	987	35	4		4	SRGAP3	3	9027389	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08		9027389	188995041	148	43934											
SRGAP3	9901	broad.mit.edu	37	chr3	9074409	9074409	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcctaggtctcctcattttCtgtggtttagggggaagaca	13	8	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:9074409C>A	uc003brf.1	-	12	2140	c.1464G>T	c.(1462-1464)CAG>CAT	p.Q488H	SRGAP3_uc003brg.1_Intron|SRGAP3_uc003bri.1_RNA	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	488	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCCTCATTTTCTGTGGTTTAG	0.458			T	RAF1	pilocytic astrocytoma								A	9074409	C	A	9074409	3	1	61	1	0	0	0	0	1	0	0	0	15146	912	32	5	1914	5	SRGAP3	3	9074409	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	47020	9074409	188948021	149	43935											
LHFPL4	375323	broad.mit.edu	37	chr3	9594221	9594221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggtgctcacgctgtcgCccacccagtagggctggatg	16	12	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:9594221C>T	uc003bry.2	-	2	429	c.143G>A	c.(142-144)GGC>GAC	p.G48D		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	48						integral to membrane				ovary(2)|skin(1)	3	Medulloblastoma(99;0.227)					CACGCTGTCGCCCACCCAGTA	0.657													T	9594221	C	T	9594221	3	4	61	1	0	0	0	0	1	0	0	0	8767	739	26	2	612	2	LHFPL4	3	9594221	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	519812	9594221	188428209	150	43936											
TADA3	10474	broad.mit.edu	37	chr3	9831526	9831526	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagggcccggcccatgtcctGccttcccttccagtttctgc	9	18	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:9831526G>C	uc003bsx.1	-	3	877	c.329C>G	c.(328-330)GCA>GGA	p.A110G	TADA3_uc010hcn.1_Missense_Mutation_p.A110G|TADA3_uc003bsy.2_Missense_Mutation_p.A110G|ARPC4_uc003bsz.1_5'Flank|ARPC4_uc003bta.1_5'Flank|ARPC4_uc003btb.1_5'Flank|ARPC4_uc003btc.1_5'Flank	NM_006354	NP_006345	O75528	TADA3_HUMAN	transcriptional adaptor 3 isoform a	110					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity				0						CCCATGTCCTGCCTTCCCTTC	0.547													C	9831526	G	C	9831526	3	2	61	1	0	0	0	0	1	0	0	0	15509	1319	46	5	1001	5	TADA3	3	9831526	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	237305	9831526	188190904	151	43937											
CRELD1	78987	broad.mit.edu	37	chr3	9982881	9982881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgggccctgcatcacctcAagtgtgtaggtaagtggggc	15	10	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:9982881A>G	uc003bug.2	+	7	842	c.724A>G	c.(724-726)AAG>GAG	p.K242E	CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Missense_Mutation_p.K242E|CRELD1_uc003buh.2_Missense_Mutation_p.K242E|CRELD1_uc003bui.2_Missense_Mutation_p.K242E|CRELD1_uc003buj.2_RNA	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1 isoform 3	242	FU 1.|Extracellular (Potential).				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			ovary(1)	1						GCATCACCTCAAGTGTGTAGG	0.493													G	9982881	A	G	9982881	3	3	61	1	0	0	0	0	1	0	0	0	3866	131	5	3	746	3	CRELD1	3	9982881	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	151355	9982881	188039549	152	43938											
NR2C2	7182	broad.mit.edu	37	chr3	15062406	15062407	+	Frame_Shift_Ins	INS	-	-	A													ctgtcagttttgccggctgaINSaaaaatgcttagagatgggc							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:15062405_15062406G>GA	uc003bzj.4	+	4	739_740	c.522_523G>GA	c.(520-525)ctgaaafs	p.L174fs	NR2C2_uc003bzi.3_Frame_Shift_Ins_p.L193fs	NM_003298	NP_003289	P49116	NR2C2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 2 (NR2C2), mRNA.	174					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.K194E(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTTGCCGGCTGAAAAAATGCTT	0.406													A	15062407	-	A	15062406	7	5	61	1	0	1	1	0	0	0	0	0	10623	247	9	0	598	0	NR2C2	3	15062406	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	5079525	15062406	182960024	153	43939											
SUSD5	26032	broad.mit.edu	37	chr3	33194483	33194483	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcacttgcacctggcccGgggccttcctgtccaaagaa	9	16	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:33194483G>A	uc003cfo.1	-	5	2059	c.1641C>T	c.(1639-1641)CCC>CCT	p.P547P		NM_015551	NP_056366	O60279	SUSD5_HUMAN	sushi domain containing 5 precursor	547	Extracellular (Potential).				cell adhesion	integral to membrane	hyaluronic acid binding			ovary(1)|central_nervous_system(1)	2						CACCTGGCCCGGGGCCTTCCT	0.577													A	33194483	G	A	33194483	2	1	61	1	0	0	0	0	0	0	0	1	15408	1103	39	1		1	SUSD5	3	33194483	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	18132077	33194483	164827947	154	43940											
LRRC2	79442	broad.mit.edu	37	chr3	46586647	46586647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcaatcttgtccagaagCcgcacgctggtgtctatgaa	9	11	3	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:46586647C>T	uc010hji.2	-	3	586	c.222G>A	c.(220-222)CGG>CGA	p.R74R	LRRC2_uc003cpu.3_Silent_p.R74R	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	74										ovary(1)	1		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TGTCCAGAAGCCGCACGCTGG	0.512													T	46586647	C	T	46586647	2	4	61	1	0	0	0	0	0	0	0	1	8976	726	26	2		2	LRRC2	3	46586647	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	13392164	46586647	151435783	155	43941											
NBEAL2	23218	broad.mit.edu	37	chr3	47045860	47045860	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgctccccccaggagatgCtgcgtgcctcaggccttacc	11	18	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:47045860C>A	uc003cqp.2	+	37	6354	c.6175C>A	c.(6175-6177)CTG>ATG	p.L2059M	NBEAL2_uc010hjm.1_Missense_Mutation_p.L1436M|NBEAL2_uc010hjn.1_Missense_Mutation_p.L455M|NBEAL2_uc010hjo.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2059	BEACH.						binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCAGGAGATGCTGCGTGCCTC	0.652													A	47045860	C	A	47045860	3	1	61	1	0	0	0	0	1	0	0	0	10189	796	28	5	6321	5	NBEAL2	3	47045860	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	459213	47045860	150976570	156	43942											
CELSR3	1951	broad.mit.edu	37	chr3	48691836	48691836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatacggggaagttctcggGgaggttggggacacctccca	17	9	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:48691836G>A	uc003cul.2	-	7	5319	c.5038C>T	c.(5038-5040)CCC>TCC	p.P1680S	CELSR3_uc003cuf.1_Missense_Mutation_p.P1750S|CELSR3_uc010hkg.2_5'Flank	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1680	Extracellular (Potential).|Laminin G-like 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AAGTTCTCGGGGAGGTTGGGG	0.592													A	48691836	G	A	48691836	3	1	61	1	0	0	0	0	1	0	0	0	3223	1232	43	4	5016	4	CELSR3	3	48691836	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1645976	48691836	149330594	157	43943											
CELSR3	1951	broad.mit.edu	37	chr3	48696932	48696932	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgactggagtccggagtgGgggcacacctctgtccactg	14	12	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:48696932G>T	uc003cul.2	-	1	3417	c.3136C>A	c.(3136-3138)CCA>ACA	p.P1046T	CELSR3_uc003cuf.1_Missense_Mutation_p.P1116T	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1046	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCCGGAGTGGGGGCACACCT	0.557													T	48696932	G	T	48696932	3	4	61	1	0	0	0	0	1	0	0	0	3223	1232	43	5	6942	5	CELSR3	3	48696932	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	5096	48696932	149325498	158	43944											
RNF123	63891	broad.mit.edu	37	chr3	49740928	49740928	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgacctgcagcgcctggggGgcctcctctcgcacctgcgg	14	16	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:49740928G>T	uc003cxh.2	+	21	1905	c.1819G>T	c.(1819-1821)GGC>TGC	p.G607C	RNF123_uc010hky.1_Missense_Mutation_p.G269C|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	607						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCGCCTGGGGGGCCTCCTCTC	0.632											OREG0015571	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	49740928	G	T	49740928	3	4	61	1	0	0	0	0	1	0	0	0	13433	1232	43	5	1897	5	RNF123	3	49740928	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1043996	49740928	148281502	159	43945											
GRM2	2912	broad.mit.edu	37	chr3	51749114	51749114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacacccacaatgaggtccGctttgaccgctttggtgatg	11	11	0	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:51749114G>A	uc010hlv.2	+	4	1564	c.1325G>A	c.(1324-1326)CGC>CAC	p.R442H	GRM2_uc003dbo.3_5'UTR|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	442	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	AATGAGGTCCGCTTTGACCGC	0.562													A	51749114	G	A	51749114	3	1	61	1	0	0	0	0	1	0	0	0	6797	1087	38	1	1335	1	GRM2	3	51749114	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	2008186	51749114	146273316	160	43946											
PARP3	10039	broad.mit.edu	37	chr3	51981822	51981822	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gggtgaggtggccctgggcaGagagcaccatatcaacacgg	16	10	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:51981822G>C	uc003dby.2	+	10	1714	c.1343G>C	c.(1342-1344)AGA>ACA	p.R448T	PARP3_uc003dbz.2_Missense_Mutation_p.R455T	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	448	PARP catalytic.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCCCTGGGCAGAGAGCACCAT	0.607													C	51981822	G	C	51981822	3	2	61	1	0	0	0	0	1	0	0	0	11462	942	33	5	1402	5	PARP3	3	51981822	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	232708	51981822	146040608	161	43947											
PCBP4	57060	broad.mit.edu	37	chr3	51992870	51992870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtgatggtgacatgccGctccccagcgccctctgctt	11	16	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:51992870G>A	uc003dcd.1	-	11	1255	c.859C>T	c.(859-861)CGG>TGG	p.R287W	PCBP4_uc003dcb.1_Missense_Mutation_p.R253W|PCBP4_uc003dcc.1_Missense_Mutation_p.R308W|PCBP4_uc003dce.1_Missense_Mutation_p.A288V|PCBP4_uc003dcf.1_Missense_Mutation_p.R287W|PCBP4_uc003dcg.1_Missense_Mutation_p.R253W|PCBP4_uc003dch.1_Missense_Mutation_p.R287W|PCBP4_uc003dci.1_Missense_Mutation_p.R127W|PCBP4_uc003dcj.1_Missense_Mutation_p.R287W|PCBP4_uc003dck.1_Missense_Mutation_p.R244W|PCBP4_uc003dcl.1_Missense_Mutation_p.R287W	NM_033010	NP_127503	P57723	PCBP4_HUMAN	poly(rC) binding protein 4 isoform c	287	KH 3.					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTGACATGCCGCTCCCCAGCG	0.652													A	51992870	G	A	51992870	3	1	61	1	0	0	0	0	1	0	0	0	11503	1086	38	1	360	1	PCBP4	3	51992870	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	11048	51992870	146029560	162	43948											
WDR82	80335	broad.mit.edu	37	chr3	52292655	52292656	+	Frame_Shift_Del	DEL	CT	CT	-													acacagctacttttataccgCtctctccattccagacatgg							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:52292654_52292655GCT>G	uc003ddl.2	-	7	1091_1092	c.809_810AGC>C	c.(808-810)agcfs	p.S270fs	WDR82_uc003ddk.2_Frame_Shift_Del_p.S195fs	NM_025222	NP_079498	Q6UXN9	WDR82_HUMAN	Homo sapiens WD repeat domain 82 (WDR82), mRNA.	270					histone H3-K4 methylation	PTW/PP1 phosphatase complex|Set1C/COMPASS complex|chromatin	protein binding								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		CTTTTATACCGCTCTCTCCATT	0.446													-	52292656	CT	-	52292655	7	5	61	1	0	1	0	1	0	0	0	0	17328	797	28	0	140	0	WDR82	3	52292655	Frame_Shift_Del	DEL	CT	TCGA-BR-8059-01A-11D-2340-08	299785	52292655	145729775	163	43949											
NT5DC2	64943	broad.mit.edu	37	chr3	52562296	52562296	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagccatctccggtagcgagAagatgtccatgaactgctta	11	10	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:52562296A>T	uc003deo.2	-	6	987	c.563T>A	c.(562-564)TTC>TAC	p.F188Y	NT5DC2_uc003dem.2_Missense_Mutation_p.F58Y|NT5DC2_uc003den.2_Missense_Mutation_p.F225Y|NT5DC2_uc010hmi.2_Missense_Mutation_p.F200Y|NT5DC2_uc010hmj.2_Missense_Mutation_p.F4Y	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2 isoform 2	188							hydrolase activity|metal ion binding				0				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CGGTAGCGAGAAGATGTCCAT	0.582													T	52562296	A	T	52562296	3	4	61	1	0	0	0	0	1	0	0	0	10691	246	9	5	1035	5	NT5DC2	3	52562296	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	269641	52562296	145460134	164	43950											
FLNB	2317	broad.mit.edu	37	chr3	58089788	58089788	+	Frame_Shift_Del	DEL	G	G	-													atacagcattgccatcacatGggggggacaccacattccaa							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:58089787_58089787TG>T	uc003djj.2	+	9	1750	c.1585_1585TG>T	c.(1585-1587)tggfs	p.W529fs	FLNB_uc010hne.2_Frame_Shift_Del_p.W529fs|FLNB_uc003djk.2_Frame_Shift_Del_p.W529fs|FLNB_uc010hnf.2_Frame_Shift_Del_p.W529fs|FLNB_uc003djl.2_Frame_Shift_Del_p.W360fs|FLNB_uc003djm.2_Frame_Shift_Del_p.W360fs	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	529					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGCCATCACATGGGGGGGACA	0.592													-	58089788	G	-	58089788	7	5	61	1	0	1	0	1	0	0	0	0	5934	1357	47	0	1624	0	FLNB	3	58089788	Frame_Shift_Del	DEL	G	TCGA-BR-8059-01A-11D-2340-08	5527492	58089788	139932642	165	43951											
CNTN3	5067	broad.mit.edu	37	chr3	74349051	74349051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaagttcagaccggcttcCgcctcctccattgacttcag	7	16	2	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:74349051C>T	uc003dpm.1	-	16	2214	c.2134G>A	c.(2134-2136)GGA>AGA	p.G712R		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	712	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GACCGGCTTCCGCCTCCTCCA	0.443													T	74349051	C	T	74349051	3	4	61	1	0	0	0	0	1	0	0	0	3642	661	23	1	980	1	CNTN3	3	74349051	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	16259263	74349051	123673379	166	43952											
CNTN3	5067	broad.mit.edu	37	chr3	74548856	74548856	+	Frame_Shift_Del	DEL	T	T	-													tgcttcacaatgcaaagttaTttttttatcttctgaaccaa							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:74548855_74548855AT>A	uc003dpm.1	-	1	217	c.137_137AT>T	c.(136-138)atafs	p.I46fs		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	46	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ATGCAAAGTTATTTTTTTATC	0.368													-	74548856	T	-	74548856	7	5	61	1	0	1	0	1	0	0	0	0	3642	1493	52	0	3034	0	CNTN3	3	74548856	Frame_Shift_Del	DEL	T	TCGA-BR-8059-01A-11D-2340-08	199805	74548856	123473574	167	43953											
C3orf26	84319	broad.mit.edu	37	chr3	99895194	99895194	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttaatttgagccccttaAaatttctggtttttgactgg	8	8	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:99895194A>G	uc003dtl.2	+	9	834	c.691A>G	c.(691-693)AAA>GAA	p.K231E		NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	hypothetical protein LOC84319	231							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(1)	1						GAGCCCCTTAAAATTTCTGGT	0.398													G	99895194	A	G	99895194	3	3	61	1	0	0	0	0	1	0	0	0	2218	15	1	3	739	3	C3orf26	3	99895194	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	25346338	99895194	98127236	168	43954											
PHLDB2	90102	broad.mit.edu	37	chr3	111632518	111632518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctttccgaaagcttccaGcgagtcctcttatctaagta	6	13	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:111632518G>A	uc010hqa.2	+	3	2099	c.1688G>A	c.(1687-1689)AGC>AAC	p.S563N	PHLDB2_uc003dyc.2_Missense_Mutation_p.S590N|PHLDB2_uc003dyd.2_Missense_Mutation_p.S563N|PHLDB2_uc003dyg.2_Missense_Mutation_p.S563N|PHLDB2_uc003dyh.2_Missense_Mutation_p.S563N|PHLDB2_uc003dyi.2_Missense_Mutation_p.S149N|PHLDB2_uc003dyf.3_Missense_Mutation_p.S563N	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	563						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						AAAGCTTCCAGCGAGTCCTCT	0.498													A	111632518	G	A	111632518	3	1	61	1	0	0	0	0	1	0	0	0	11852	971	34	2	1779	2	PHLDB2	3	111632518	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	11737324	111632518	86389912	169	43955											
NR1I2	8856	broad.mit.edu	37	chr3	119531555	119531555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggggtgcttagcagtgGctgcgagttgccagagtctc	16	10	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:119531555G>A	uc003edj.2	+	5	2381	c.542G>A	c.(541-543)GGC>GAC	p.G181D	NR1I2_uc003edi.2_Intron|NR1I2_uc003edk.2_Missense_Mutation_p.G220D|NR1I2_uc003edl.2_Missense_Mutation_p.G69D	NM_003889	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	181	Hinge.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CTTAGCAGTGGCTGCGAGTTG	0.587													A	119531555	G	A	119531555	3	1	61	1	0	0	0	0	1	0	0	0	10620	1203	42	2	677	2	NR1I2	3	119531555	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	7899037	119531555	78490875	170	43956											
SEC22A	26984	broad.mit.edu	37	chr3	122928161	122928161	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagcacaggaatgcaggagTgcagaaagtattttaaaatg	11	4	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:122928161T>C	uc003ege.2	+	2	176	c.97T>C	c.(97-99)TGC>CGC	p.C33R	SEC22A_uc003egf.2_Missense_Mutation_p.C33R	NM_012430	NP_036562	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A	33	Cytoplasmic (Potential).|Longin.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0548)		AATGCAGGAGTGCAGAAAGTA	0.373													C	122928161	T	C	122928161	3	2	61	1	0	0	0	0	1	0	0	0	13988	1696	59	3	99	3	SEC22A	3	122928161	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	3396606	122928161	75094269	171	43957											
CEP63	80254	broad.mit.edu	37	chr3	134267988	134267988	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagaggatggaagcacaTaacaatgaatacaaagcaga	10	6	0	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:134267988T>C	uc003eqo.1	+	11	1601	c.1152T>C	c.(1150-1152)CAT>CAC	p.H384H	CEP63_uc003eql.1_Silent_p.H338H|CEP63_uc003eqm.2_Silent_p.H338H|CEP63_uc003eqn.1_Silent_p.H384H|CEP63_uc003eqp.1_Silent_p.H13H	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	384	Potential.				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			ovary(1)	1						TGGAAGCACATAACAATGAAT	0.358													C	134267988	T	C	134267988	2	2	61	1	0	0	0	0	0	0	0	1	3257	1403	49	3		3	CEP63	3	134267988	Silent	SNP	T	TCGA-BR-8059-01A-11D-2340-08	11339827	134267988	63754442	172	43958											
ATR	545	broad.mit.edu	37	chr3	142259852	142259852	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttgggtcccattaacttcaTcaaagacatcaaactgttca	5	10	4	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:142259852T>A	uc003eux.3	-	18	3597	c.3475A>T	c.(3475-3477)ATG>TTG	p.M1159L		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1159					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						ATTAACTTCATCAAAGACATC	0.428								Other_conserved_DNA_damage_response_genes					A	142259852	T	A	142259852	3	1	61	1	0	0	0	0	1	0	0	0	1204	1435	50	5	4579	5	ATR	3	142259852	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	7991864	142259852	55762578	173	43959											
CHST2	9435	broad.mit.edu	37	chr3	142840454	142840454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcgtcaccactctgccccGcctaccgcaaggaggtcgtg	11	17	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:142840454G>A	uc003evm.2	+	2	1685	c.796G>A	c.(796-798)GCC>ACC	p.A266T		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	266	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3						ACTCTGCCCCGCCTACCGCAA	0.677													A	142840454	G	A	142840454	3	1	61	1	0	0	0	0	1	0	0	0	3404	1087	38	1	798	1	CHST2	3	142840454	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	580602	142840454	55181976	174	43960											
IGSF10	285313	broad.mit.edu	37	chr3	151160982	151160982	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccagtggaactggtagcaAtgcattcataagtgcccctg	10	10	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:151160982A>G	uc011bod.1	-	5	5753	c.5753T>C	c.(5752-5754)ATT>ACT	p.I1918T	IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1918	Ig-like C2-type 5.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTGGTAGCAATGCATTCATA	0.433													G	151160982	A	G	151160982	3	3	61	1	0	0	0	0	1	0	0	0	7597	101	4	3	2174	3	IGSF10	3	151160982	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	8320528	151160982	46861448	175	43961											
PLCH1	23007	broad.mit.edu	37	chr3	155271897	155271897	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaggcatgcttgttgatggtCtccacaacatctctgaagag	10	9	2	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:155271897C>T	uc011bok.1	-	8	1399	c.1122G>A	c.(1120-1122)GAG>GAA	p.E374E	PLCH1_uc011boj.1_Silent_p.E374E|PLCH1_uc011bol.1_Silent_p.E356E	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	374	PI-PLC X-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGTTGATGGTCTCCACAACAT	0.468													T	155271897	C	T	155271897	2	4	61	1	0	0	0	0	0	0	0	1	12037	912	32	4		4	PLCH1	3	155271897	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	4110915	155271897	42750533	176	43962											
SLC33A1	9197	broad.mit.edu	37	chr3	155551377	155551390	+	Splice_Site	DEL	ATAGAGAAAGAAAC	ATAGAGAAAGAAAC	-													tctaacccaagcaataatctAtagagaaagaaacattgagt							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:155551376_155551389TATAGAGAAAGAAAC>T	uc003fan.4	-	4	1611	c.1149_splice	c.e4-1	p.R383_splice	SLC33A1_uc003fao.2_Splice_Site_p.R383_splice|SLC33A1_uc003fap.1_5'Flank	NM_001190992	NP_004724	O00400	ACATN_HUMAN	Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA.	383					cell death|transmembrane transport	Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGCAATAATCTATAGAGAAAGAAACATTGAGTTG	0.369													-	155551390	ATAGAGAAAGAAAC	-	155551377	8	5	61	1	0	1	0	1	0	0	1	0	14566	464	16	0		0	SLC33A1	3	155551377	Splice_Site	DEL	ATAGAGAAAGAAAC	TCGA-BR-8059-01A-11D-2340-08	279480	155551377	42471053	177	43963											
MFSD1	64747	broad.mit.edu	37	chr3	158545116	158545116	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagggaagaaataaaatttTcccatactgagtaagtatta	7	4	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:158545116T>C	uc003fcl.1	+	15	1414	c.1384T>C	c.(1384-1386)TCC>CCC	p.S462P	MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_Missense_Mutation_p.S365P|MFSD1_uc011bow.1_Missense_Mutation_p.S423P|MFSD1_uc011box.1_Missense_Mutation_p.S389P	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing	462					transmembrane transport	integral to membrane					0			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AATAAAATTTTCCCATACTGA	0.279													C	158545116	T	C	158545116	3	2	61	1	0	0	0	0	1	0	0	0	9527	1783	62	3	1589	3	MFSD1	3	158545116	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	2993739	158545116	39477314	178	43964											
WDR49	151790	broad.mit.edu	37	chr3	167218047	167218047	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtttattcacttcaggCagctcttccagggctccaat	9	12	3	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:167218047C>G	uc003fev.1	-	14	2175	c.1869G>C	c.(1867-1869)CTG>CTC	p.L623L	WDR49_uc003feu.1_Silent_p.L448L|WDR49_uc011bpd.1_Silent_p.L588L|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	623										large_intestine(1)|ovary(1)|skin(1)	3						TCACTTCAGGCAGCTCTTCCA	0.443													G	167218047	C	G	167218047	2	3	61	1	0	0	0	0	0	0	0	1	17299	697	25	5		5	WDR49	3	167218047	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	8672931	167218047	30804383	179	43965											
NLGN1	22871	broad.mit.edu	37	chr3	173997321	173997321	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccacggagacgaggttccCtatgtactgggaatccccat	11	13	0	1	rs140933912		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:173997321C>A	uc003fio.1	+	6	1953	c.1530C>A	c.(1528-1530)CCC>CCA	p.P510P	NLGN1_uc010hww.1_Silent_p.P550P|NLGN1_uc003fip.1_Silent_p.P510P	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	527	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ACGAGGTTCCCTATGTACTGG	0.458													A	173997321	C	A	173997321	2	1	61	1	0	0	0	0	0	0	0	1	10461	668	24	5		5	NLGN1	3	173997321	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	6779274	173997321	24025109	180	43966											
NLGN1	22871	broad.mit.edu	37	chr3	173998407	173998407	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gattaaaaccaagagttaaaGaacattacagagccaataag	7	6	0	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:173998407G>C	uc003fio.1	+	7	2209	c.1786G>C	c.(1786-1788)GAA>CAA	p.E596Q	NLGN1_uc003fip.1_Missense_Mutation_p.E596Q	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	613	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AAGAGTTAAAGAACATTACAG	0.383													C	173998407	G	C	173998407	3	2	61	1	0	0	0	0	1	0	0	0	10461	943	33	5	1804	5	NLGN1	3	173998407	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1086	173998407	24024023	181	43967											
TTC14	151613	broad.mit.edu	37	chr3	180328073	180328074	+	Frame_Shift_Ins	INS	-	-	A													gaagtcagttgagaaatacaINSaaaaatacgctcactctgga							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:180328072_180328073C>CA	uc003fkk.3	+	11	2187_2188	c.2055_2056C>CA	c.(2053-2058)tacaaafs	p.Y685fs	TTC14_uc003fkl.3_3'UTR|TTC14_uc003fkm.2_Intron	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.	685							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTGAGAAATACAAAAAATACGC	0.406													A	180328074	-	A	180328073	7	5	61	1	0	1	1	0	0	0	0	0	16678	131	5	0	2132	0	TTC14	3	180328073	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	6329666	180328073	17694357	182	43968											
EPHB3	2049	broad.mit.edu	37	chr3	184295229	184295229	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggcccaacggagtcatcctgGactacgagatgaagtacttt	11	10	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:184295229G>T	uc003foz.2	+	6	1890	c.1453G>T	c.(1453-1455)GAC>TAC	p.D485Y		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	485	Fibronectin type-III 2.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGTCATCCTGGACTACGAGAT	0.602													T	184295229	G	T	184295229	3	4	61	1	0	0	0	0	1	0	0	0	5176	1174	41	5	1475	5	EPHB3	3	184295229	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	3967156	184295229	13727201	183	43969											
OPA1	4976	broad.mit.edu	37	chr3	193335014	193335014	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagaagaccttgtaaagttaGcaccagactttgacaagatt	8	8	0	5			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:193335014G>C	uc003ftm.2	+	4	730	c.496G>C	c.(496-498)GCA>CCA	p.A166P	OPA1_uc003ftg.2_Missense_Mutation_p.A166P|OPA1_uc003fth.2_Intron|OPA1_uc003fti.2_Missense_Mutation_p.A166P|OPA1_uc003ftj.2_Missense_Mutation_p.A166P|OPA1_uc003ftk.2_Intron|OPA1_uc003ftl.2_Intron|OPA1_uc003ftn.2_Intron	NM_015560	NP_056375	O60313	OPA1_HUMAN	optic atrophy 1 isoform 1	166	Mitochondrial intermembrane (By similarity).				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding				0	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TGTAAAGTTAGCACCAGACTT	0.303													C	193335014	G	C	193335014	3	2	61	1	0	0	0	0	1	0	0	0	10871	971	34	5	510	5	OPA1	3	193335014	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	9039785	193335014	4687416	184	43970											
CPN2	1370	broad.mit.edu	37	chr3	194062035	194062035	+	Frame_Shift_Del	DEL	C	C	-													gcacagccagatcccagctgCcccctgccttgctttcgtcc							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr3:194062034_194062034GC>G	uc003fts.3	-	1	1488	c.1398_1398GC>C	c.(1396-1398)ggcfs	p.G466fs	CPN2_uc021xix.1_Frame_Shift_Del_p.G466fs	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	466					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GATCCCAGCTGCCCCCTGCCT	0.662													-	194062035	C	-	194062035	7	5	61	1	0	1	0	1	0	0	0	0	3810	739	26	0	244	0	CPN2	3	194062035	Frame_Shift_Del	DEL	C	TCGA-BR-8059-01A-11D-2340-08	727021	194062035	3960395	185	43971											
FAM193A	8603	broad.mit.edu	37	chr4	2661593	2661593	+	Frame_Shift_Del	DEL	C	C	-													ctcacgtgtggtatcatggaCccccccgtcactgatgacat							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:2661592_2661592AC>A	uc010ick.3	+	8	1284	c.1283_1283AC>A	c.(1282-1284)gacfs	p.D428fs	FAM193A_uc003gfd.3_Frame_Shift_Del_p.D228fs|FAM193A_uc011bvm.2_Frame_Shift_Del_p.D252fs|FAM193A_uc011bvn.2_Frame_Shift_Del_p.D228fs|FAM193A_uc010icl.3_Frame_Shift_Del_p.D228fs|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Frame_Shift_Del_p.D82fs	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTC	0.522													-	2661593	C	-	2661593	7	5	61	1	0	1	0	1	0	0	0	0	5524	506	18	0	706	0	FAM193A	4	2661593	Frame_Shift_Del	DEL	C	TCGA-BR-8059-01A-11D-2340-08		2661593	188492683	186	43972											
FAM193A	8603	broad.mit.edu	37	chr4	2696824	2696824	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggagggcaagtactgcgacTgctgctactgcgaattcttt	12	9	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:2696824T>A	uc010icl.2	+	15	2722	c.2371T>A	c.(2371-2373)TGC>AGC	p.C791S	FAM193A_uc010ick.2_Missense_Mutation_p.C991S|FAM193A_uc003gfd.2_Missense_Mutation_p.C791S|FAM193A_uc011bvm.1_Missense_Mutation_p.C813S|FAM193A_uc011bvn.1_Missense_Mutation_p.C791S|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_Intron|FAM193A_uc003gfe.2_Missense_Mutation_p.C645S	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	791										ovary(3)	3						GTACTGCGACTGCTGCTACTG	0.572													A	2696824	T	A	2696824	3	1	61	1	0	0	0	0	1	0	0	0	5524	1580	55	5	2421	5	FAM193A	4	2696824	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	35231	2696824	188457452	187	43973											
MFSD10	10227	broad.mit.edu	37	chr4	2934406	2934407	+	Frame_Shift_Ins	INS	-	-	C													gacgttccctttgctgatgcINSccccaatcagcctggaggcc							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:2934405_2934406G>GC	uc003gfw.3	-	3	766_767	c.452_453C>GC	c.(451-453)ggcfs	p.G151fs	MFSD10_uc021xks.1_Frame_Shift_Ins_p.G75fs|MFSD10_uc003gfz.3_Frame_Shift_Ins_p.G151fs|NOP14-AS1_uc003ggd.1_5'Flank|NOP14-AS1_uc003gge.1_5'Flank|NOP14-AS1_uc003ggg.1_5'Flank|NOP14-AS1_uc003ggh.3_5'Flank	NM_001120	NP_001139541	Q14728	MFS10_HUMAN	Homo sapiens major facilitator superfamily domain containing 10 (MFSD10), transcript variant 1, mRNA.	151					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTTTGCTGATGCCCCCAATCAG	0.644													C	2934407	-	C	2934406	7	5	61	1	0	1	1	0	0	0	0	0	9528	739	26	0	951	0	MFSD10	4	2934406	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	237582	2934406	188219870	188	43974											
CCDC149	91050	broad.mit.edu	37	chr4	24838869	24838869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgttctccatacacagggCgtccacgtcaatgatgcggt	10	13	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:24838869C>T	uc011bxr.1	-	7	787	c.643G>A	c.(643-645)GCC>ACC	p.A215T	CCDC149_uc003grc.2_Missense_Mutation_p.A215T|CCDC149_uc003grb.2_RNA|CCDC149_uc003grd.2_Intron|CCDC149_uc003gre.2_Missense_Mutation_p.A160T|CCDC149_uc011bxq.1_Missense_Mutation_p.A88T	NM_173463	NP_775734	B4DZG3	B4DZG3_HUMAN	coiled-coil domain containing 149 isoform 1	215											0		Breast(46;0.173)				ATACACAGGGCGTCCACGTCA	0.582													T	24838869	C	T	24838869	3	4	61	1	0	0	0	0	1	0	0	0	2783	768	27	1	978	1	CCDC149	4	24838869	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	21904463	24838869	166315407	189	43975											
ZCCHC4	29063	broad.mit.edu	37	chr4	25353254	25353254	+	Frame_Shift_Del	DEL	T	T	-													attttctggattttcccctaTttttttgaatcccgaatttg							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:25353253_25353253AT>A	uc003grl.4	+	7	989	c.953_953AT>A	c.(952-954)tatfs	p.Y318fs		NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 4 (ZCCHC4), mRNA.	318							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				ATTTTCCCCTATTTTTTTGAA	0.353													-	25353254	T	-	25353254	7	5	61	1	0	1	0	1	0	0	0	0	17587	1500	52	0	984	0	ZCCHC4	4	25353254	Frame_Shift_Del	DEL	T	TCGA-BR-8059-01A-11D-2340-08	514385	25353254	165801022	190	43976											
PGM2	55276	broad.mit.edu	37	chr4	37848854	37848854	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctttaagtggatgggaaAcagagccaaacagctaatag	12	6	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:37848854A>G	uc011byb.1	+	10	1293	c.1220A>G	c.(1219-1221)AAC>AGC	p.N407S	PGM2_uc011bya.1_Missense_Mutation_p.N268S|PGM2_uc011byc.1_Missense_Mutation_p.N247S	NM_018290	NP_060760	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	407					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			ovary(1)	1						TGGATGGGAAACAGAGCCAAA	0.378													G	37848854	A	G	37848854	3	3	61	1	0	0	0	0	1	0	0	0	11798	43	2	3	1258	3	PGM2	4	37848854	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	12495600	37848854	153305422	191	43977											
GUF1	60558	broad.mit.edu	37	chr4	44684428	44684428	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaattccagttataaataaGgtaattacaatgagacaaca	6	5	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:44684428G>T	uc003gww.3	+	5	792	c.585G>T	c.(583-585)AAG>AAT	p.K195N	GUF1_uc010ifz.1_RNA	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog	195	GTP (By similarity).				translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1						TTATAAATAAGGTAATTACAA	0.338													T	44684428	G	T	44684428	3	4	61	1	0	0	0	0	1	0	0	0	6899	1014	35	5	603	5	GUF1	4	44684428	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	6835574	44684428	146469848	192	43978											
GABRA4	2557	broad.mit.edu	37	chr4	46967014	46967014	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcttcaggatgcttctcTctctgcactggagcagcggg	15	11	3	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:46967014T>C	uc003gxg.2	-	8	1246	c.1107A>G	c.(1105-1107)AGA>AGG	p.R369R		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	369	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GATGCTTCTCTCTCTGCACTG	0.423													C	46967014	T	C	46967014	2	2	61	1	0	0	0	0	0	0	0	1	6163	1548	54	3		3	GABRA4	4	46967014	Silent	SNP	T	TCGA-BR-8059-01A-11D-2340-08	2282586	46967014	144187262	193	43979											
FRYL	285527	broad.mit.edu	37	chr4	48604083	48604084	+	Frame_Shift_Ins	INS	-	-	A													gaaaatatgccagttatttaINSaaaaaaattgtttctgactg							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:48604082_48604083T>TA	uc003gyh.1	-	12	1594_1595	c.989_990A>TA	c.(988-990)ttafs	p.L330fs	FRYL_uc003gyk.3_Frame_Shift_Ins_p.L330fs	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.L330fs*3(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GCCAGTTATTTAAAAAAAATTG	0.307													A	48604084	-	A	48604083	7	5	61	1	0	1	1	0	0	0	0	0	6064	372	13	0	8260	0	FRYL	4	48604083	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	1637069	48604083	142550193	194	43980											
OCIAD1	54940	broad.mit.edu	37	chr4	48852083	48852083	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgatcaggacaagcacgaCgatcttcaccacctgggtag	10	12	3	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:48852083C>T	uc003gyo.2	+	6	618	c.361C>T	c.(361-363)CGA>TGA	p.R121*	OCIAD1_uc011bzk.1_RNA|OCIAD1_uc003gyr.2_Nonsense_Mutation_p.R121*|OCIAD1_uc003gyp.2_Nonsense_Mutation_p.R121*|OCIAD1_uc003gys.2_Nonsense_Mutation_p.R121*|OCIAD1_uc003gyq.2_Nonsense_Mutation_p.R121*|OCIAD1_uc010igk.2_Nonsense_Mutation_p.R126*	NM_017830	NP_060300	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1 isoform 1	121						endosome	protein binding				0						ACAAGCACGACGATCTTCACC	0.373													T	48852083	C	T	48852083	4	4	61	1	0	0	0	0	0	1	0	0	10817	528	19	1	398	1	OCIAD1	4	48852083	Nonsense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	248000	48852083	142302193	195	43981											
LRRC66	339977	broad.mit.edu	37	chr4	52862042	52862042	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaggaatgtgatgaacacTgacaggcacaccgccagagc	11	11	0	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:52862042T>G	uc003gzi.2	-	4	1159	c.1146A>C	c.(1144-1146)TCA>TCC	p.S382S		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	382	Helical; (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						TGATGAACACTGACAGGCACA	0.572													G	52862042	T	G	52862042	2	3	61	1	0	0	0	0	0	0	0	1	9018	1567	55	5		5	LRRC66	4	52862042	Silent	SNP	T	TCGA-BR-8059-01A-11D-2340-08	4009959	52862042	138292234	196	43982											
KIT	3815	broad.mit.edu	37	chr4	55594223	55594223	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctcatgtctgaactcaaAgtcctgagttaccttggtaa	8	11	3	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:55594223A>C	uc010igr.2	+	13	2013	c.1926A>C	c.(1924-1926)AAA>AAC	p.K642N	KIT_uc010igs.2_Missense_Mutation_p.K638N|KIT_uc010igt.1_Missense_Mutation_p.K91N	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	642	Protein kinase.|Cytoplasmic (Potential).				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.K642E(55)|p.K642Q(1)		soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGAACTCAAAGTCCTGAGTT	0.438		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				C	55594223	A	C	55594223	3	2	61	1	0	0	0	0	1	0	0	0	8329	69	3	5	1976	5	KIT	4	55594223	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	2732181	55594223	135560053	197	43983											
KDR	3791	broad.mit.edu	37	chr4	55958806	55958806	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcgatgccaagaactccAtgcccttagccacttggaag	9	13	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:55958806A>T	uc003has.2	-	22	3349	c.3047T>A	c.(3046-3048)ATG>AAG	p.M1016K	KDR_uc003hat.1_Missense_Mutation_p.M1016K	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	1016	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CAAGAACTCCATGCCCTTAGC	0.473			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			T	55958806	A	T	55958806	3	4	61	1	0	0	0	0	1	0	0	0	8139	217	8	5	1059	5	KDR	4	55958806	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	364583	55958806	135195470	198	43984											
CLOCK	9575	broad.mit.edu	37	chr4	56345861	56345861	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acccatcaaaaatactactgTcatctctaaaagaaagcgga	5	10	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:56345861T>G	uc003haz.1	-	6	979	c.53A>C	c.(52-54)GAC>GCC	p.D18A	CLOCK_uc003hba.1_Missense_Mutation_p.D18A	NM_004898	NP_004889	O15516	CLOCK_HUMAN	clock	18					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			AATACTACTGTCATCTCTAAA	0.318													G	56345861	T	G	56345861	3	3	61	1	0	0	0	0	1	0	0	0	3549	1667	58	5	2563	5	CLOCK	4	56345861	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	387055	56345861	134808415	199	43985											
POLR2B	5431	broad.mit.edu	37	chr4	57888355	57888355	+	Frame_Shift_Del	DEL	A	A	-													catacaaagaacaggagtctAaaaaaggatttgatcaagaa							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:57888354_57888354TA>T	uc003hcl.1	+	17	2500	c.2457_2457TA>T	c.(2455-2457)tctfs	p.S819fs	POLR2B_uc011cae.1_Frame_Shift_Del_p.S812fs|POLR2B_uc011caf.1_Frame_Shift_Del_p.S744fs|POLR2B_uc003hcm.1_Frame_Shift_Del_p.S312fs	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	819					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AACAGGAGTCTAAAAAAGGAT	0.353													-	57888355	A	-	57888355	7	5	61	1	0	1	0	1	0	0	0	0	12215	363	13	0	2528	0	POLR2B	4	57888355	Frame_Shift_Del	DEL	A	TCGA-BR-8059-01A-11D-2340-08	1542494	57888355	133265921	200	43986											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68693133	68693133	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtcattttcatgagttgcAgatttataattgttatgaat	7	3	2	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:68693133A>G	uc003hdq.2	-	8	863	c.798T>C	c.(796-798)TCT>TCC	p.S266S	LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc003hdp.2_Silent_p.S47S|TMPRSS11D_uc011caj.1_Silent_p.S149S	NM_004262	NP_004253	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	266	Peptidase S1.|Extracellular (Potential).				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						CATGAGTTGCAGATTTATAAT	0.373													G	68693133	A	G	68693133	2	3	61	1	0	0	0	0	0	0	0	1	16238	175	7	3		3	TMPRSS11D	4	68693133	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	10804778	68693133	122461143	201	43987											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68930432	68930432	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatggatccaaatcctgtgAcgaacacacttgttttaggt	8	9	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:68930432A>G	uc003hdt.1	-	8	1035	c.986T>C	c.(985-987)GTC>GCC	p.V329A	LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron|SYT14L_uc010ihn.2_5'Flank	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	329	Peptidase S1.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						AAATCCTGTGACGAACACACT	0.393													G	68930432	A	G	68930432	3	3	61	1	0	0	0	0	1	0	0	0	16240	275	10	3	342	3	TMPRSS11F	4	68930432	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	237299	68930432	122223844	202	43988											
RASSF6	166824	broad.mit.edu	37	chr4	74453644	74453644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgtcaaattccccccagcGtgtcattctgagaagtaata	7	11	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:74453644G>A	uc003hhd.1	-	5	514	c.391C>T	c.(391-393)CGC>TGC	p.R131C	RASSF6_uc003hhc.1_Missense_Mutation_p.R99C|RASSF6_uc010iik.1_Missense_Mutation_p.R99C|RASSF6_uc010iil.1_Missense_Mutation_p.R87C	NM_201431	NP_958834	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family 6	131					apoptosis|signal transduction		protein binding			pancreas(2)	2	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCCCCCCAGCGTGTCATTCTG	0.368													A	74453644	G	A	74453644	3	1	61	1	0	0	0	0	1	0	0	0	13090	1145	40	1	746	1	RASSF6	4	74453644	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	5523212	74453644	116700632	203	43989											
SCD5	79966	broad.mit.edu	37	chr4	83719567	83719567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccagacgatgttctgccGctgcccgcgcgcgcctggcc	12	19	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:83719567G>A	uc003hna.2	-	1	444	c.124C>T	c.(124-126)CGG>TGG	p.R42W	SCD5_uc003hnb.3_Missense_Mutation_p.R42W|SCD5_uc003hnc.2_Missense_Mutation_p.R42W	NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5 isoform a	42					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			ovary(1)	1		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				ATGTTCTGCCGCTGCCCGCGC	0.647													A	83719567	G	A	83719567	3	1	61	1	0	0	0	0	1	0	0	0	13887	1086	38	1	1094	1	SCD5	4	83719567	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	9265923	83719567	107434709	204	43990											
SEC31A	22872	broad.mit.edu	37	chr4	83783724	83783724	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgttcaaggccaaagcaAtctgaaataaaaataacagc	6	8	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:83783724A>G	uc003hnf.2	-	13	1675	c.1511T>C	c.(1510-1512)ATT>ACT	p.I504T	SEC31A_uc003hne.2_Intron|SEC31A_uc011ccl.1_Intron|SEC31A_uc003hnl.2_Intron|SEC31A_uc003hng.2_Missense_Mutation_p.I504T|SEC31A_uc003hnh.2_Missense_Mutation_p.I504T|SEC31A_uc003hni.2_Missense_Mutation_p.I504T|SEC31A_uc003hnj.2_Intron|SEC31A_uc011ccm.1_Missense_Mutation_p.I499T|SEC31A_uc011ccn.1_Missense_Mutation_p.I504T|SEC31A_uc003hnk.2_Intron|SEC31A_uc003hnm.2_Missense_Mutation_p.I504T|SEC31A_uc003hnn.1_Missense_Mutation_p.I504T	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	504					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				GGCCAAAGCAATCTGAAATAA	0.393													G	83783724	A	G	83783724	3	3	61	1	0	0	0	0	1	0	0	0	13998	115	4	3	2211	3	SEC31A	4	83783724	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	64157	83783724	107370552	205	43991											
WDFY3	23001	broad.mit.edu	37	chr4	85781643	85781643	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgccggggaggatggcacaaCtccgtgaagagccggcggag	18	10	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:85781643C>G	uc003hpd.2	-	4	510	c.102G>C	c.(100-102)GAG>GAC	p.E34D	WDFY3_uc003hpf.2_Missense_Mutation_p.E34D	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	34						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GATGGCACAACTCCGTGAAGA	0.552													G	85781643	C	G	85781643	3	3	61	1	0	0	0	0	1	0	0	0	17267	564	20	5	10781	5	WDFY3	4	85781643	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1997919	85781643	105372633	206	43992											
EMCN	51705	broad.mit.edu	37	chr4	101342537	101342537	+	Splice_Site	DEL	A	A	-													ccaccggcaaaataatacctAaaaagaattggagacattgt							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:101342536_101342536TA>T	uc003hvr.3	-	8	748	c.569_splice	c.e8-1	p.S190_splice	EMCN_uc011cel.2_Splice_Site_p.S177_splice|EMCN_uc011cem.2_Intron	NM_016242	NP_057326	Q9ULC0	MUCEN_HUMAN	Homo sapiens endomucin (EMCN), transcript variant 1, mRNA.	190						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		AAATAATACCTAAAAAGAATT	0.388													-	101342537	A	-	101342537	8	5	61	1	0	1	0	1	0	0	1	0	5086	377	13	0		0	EMCN	4	101342537	Splice_Site	DEL	A	TCGA-BR-8059-01A-11D-2340-08	15560894	101342537	89811739	207	43993											
INTS12	57117	broad.mit.edu	37	chr4	106616707	106616707	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttttcagcttccttctttAccttttcagttgtgaggacc	6	11	4	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:106616707A>C	uc003hxw.2	-	4	533	c.275T>G	c.(274-276)GTA>GGA	p.V92G	INTS12_uc010ilr.2_Missense_Mutation_p.V92G	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	integrator complex subunit 12	92					snRNA processing	integrator complex	protein binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TTCCTTCTTTACCTTTTCAGT	0.323													C	106616707	A	C	106616707	3	2	61	1	0	0	0	0	1	0	0	0	7777	391	14	5	1133	5	INTS12	4	106616707	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	5274170	106616707	84537569	208	43994											
INTU	27152	broad.mit.edu	37	chr4	128564847	128564847	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactacaaagaaagaaaaaaGtatgaacccaaactcaagca	6	8	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:128564847G>A	uc003ifk.1	+	2	388	c.318G>A	c.(316-318)AAG>AAA	p.K106K	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	106										ovary(1)	1						AAAGAAAAAAGTATGAACCCA	0.358													A	128564847	G	A	128564847	2	1	61	1	0	0	0	0	0	0	0	1	7786	1020	36	4		4	INTU	4	128564847	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	21948140	128564847	62589429	209	43995											
PCDH18	54510	broad.mit.edu	37	chr4	138451552	138451552	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattttcgtcaatgatggtgAgcacaactgtggtattgctt	10	7	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:138451552A>C	uc003ihe.3	-	1	2078	c.1691T>G	c.(1690-1692)CTC>CGC	p.L564R	PCDH18_uc003ihf.3_Missense_Mutation_p.L557R|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.L344R|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	564	Extracellular (Potential).|Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					AATGATGGTGAGCACAACTGT	0.453													C	138451552	A	C	138451552	3	2	61	1	0	0	0	0	1	0	0	0	11513	304	11	5	1732	5	PCDH18	4	138451552	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	9886705	138451552	52702724	210	43996											
ZNF827	152485	broad.mit.edu	37	chr4	146697023	146697023	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcggtgtctgtactcaccaGcttcacggaatggacggtca	11	12	4	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:146697023G>C	uc003ikn.2	-	10	2659	c.2611C>G	c.(2611-2613)CTG>GTG	p.L871V	ZNF827_uc003ikm.2_Missense_Mutation_p.L871V|ZNF827_uc010iox.2_Missense_Mutation_p.L521V|ZNF827_uc003ikl.2_5'UTR	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	871					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					GTACTCACCAGCTTCACGGAA	0.498													C	146697023	G	C	146697023	3	2	61	1	0	0	0	0	1	0	0	0	18177	962	34	5	638	5	ZNF827	4	146697023	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	8245471	146697023	44457253	211	43997											
LRBA	987	broad.mit.edu	37	chr4	151849711	151849711	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtttactgaagaaaagctttAgctcgcgaactgtcaaatta	8	7	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:151849711A>T	uc010ipj.2	-	4	980	c.506T>A	c.(505-507)CTA>CAA	p.L169Q	LRBA_uc003ilu.3_Missense_Mutation_p.L169Q|LRBA_uc010ipk.1_Missense_Mutation_p.L88Q	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	169						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					GAAAAGCTTTAGCTCGCGAAC	0.358													T	151849711	A	T	151849711	3	4	61	1	0	0	0	0	1	0	0	0	8931	420	15	5	8305	5	LRBA	4	151849711	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	5152688	151849711	39304565	212	43998											
FHDC1	85462	broad.mit.edu	37	chr4	153896551	153896551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactctgagtgacttcagccCgatggagctagagtctgtgg	14	9	3	3	rs147950044		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:153896551C>T	uc003inf.2	+	11	2183	c.2108C>T	c.(2107-2109)CCG>CTG	p.P703L		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	703					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					GACTTCAGCCCGATGGAGCTA	0.622													T	153896551	C	T	153896551	3	4	61	1	0	0	0	0	1	0	0	0	5876	652	23	1	2150	1	FHDC1	4	153896551	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2046840	153896551	37257725	213	43999											
PLRG1	5356	broad.mit.edu	37	chr4	155461762	155461762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttacccgtgcagttgaatctCgactacaggttaccaacaca	7	12	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:155461762C>T	uc003iny.2	-	10	986	c.923G>A	c.(922-924)CGA>CAA	p.R308Q	PLRG1_uc003inz.2_Missense_Mutation_p.R299Q|PLRG1_uc011cil.1_Missense_Mutation_p.R147Q	NM_002669	NP_002660	O43660	PLRG1_HUMAN	pleiotropic regulator 1 (PRL1 homolog,	308	WD 3.					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity				0	all_hematologic(180;0.215)	Renal(120;0.0854)				AGTTGAATCTCGACTACAGGT	0.398													T	155461762	C	T	155461762	3	4	61	1	0	0	0	0	1	0	0	0	12106	884	31	1	645	1	PLRG1	4	155461762	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1565211	155461762	35692514	214	44000											
ACCN5	51802	broad.mit.edu	37	chr4	156775402	156775402	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatttcttgaagatggaggaCtttggatacaatgtgccata	10	5	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:156775402C>A	uc003ipe.1	-	3	459	c.412G>T	c.(412-414)GTC>TTC	p.V138F		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	amiloride-sensitive cation channel 5,	138	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)		AGATGGAGGACTTTGGATACA	0.383													A	156775402	C	A	156775402	3	1	61	1	0	0	0	0	1	0	0	0	132	565	20	5	1137	5	ACCN5	4	156775402	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1313640	156775402	34378874	215	44001											
TDO2	6999	broad.mit.edu	37	chr4	156825181	156825181	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttgcagatatacttttaAaaaactccccgtagaaggca	6	8	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:156825181A>C	uc003ipf.1	+	2	111	c.47A>C	c.(46-48)AAA>ACA	p.K16T		NM_005651	NP_005642	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	16					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	TATACTTTTAAAAAACTCCCC	0.353													C	156825181	A	C	156825181	3	2	61	1	0	0	0	0	1	0	0	0	15724	14	1	5	53	5	TDO2	4	156825181	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	49779	156825181	34329095	216	44002											
TDO2	6999	broad.mit.edu	37	chr4	156830081	156830090	+	Frame_Shift_Del	DEL	CACCGAGTGT	CACCGAGTGT	-													ttaaggttgtttctcggatgCaccgagtgtcagtgatcctg							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:156830080_156830089GCACCGAGTGT>G	uc003ipf.1	+	4	409_418	c.345_354GCACCGAGTGT>G	c.(343-354)atgcaccgagtgfs	p.M115fs		NM_005651	NP_005642	P48775	T23O_HUMAN	Homo sapiens tryptophan 2,3-dioxygenase (TDO2), mRNA.	115					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	TTTCTCGGATGCACCGAGTGTCAGTGATCC	0.424													-	156830090	CACCGAGTGT	-	156830081	7	5	61	1	0	1	0	1	0	0	0	0	15724	710	25	0	364	0	TDO2	4	156830081	Frame_Shift_Del	DEL	CACCGAGTGT	TCGA-BR-8059-01A-11D-2340-08	4900	156830081	34324195	217	44003											
FAM198B	51313	broad.mit.edu	37	chr4	159092149	159092149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctttttcctgcgcttggGcttcacggtgccacggatat	11	11	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:159092149G>A	uc003ipp.3	-	2	831	c.379C>T	c.(379-381)CCC>TCC	p.P127S	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.P127S|FAM198B_uc003ipr.3_Missense_Mutation_p.P127S|FAM198B_uc003ips.2_Missense_Mutation_p.P127S|uc003ipt.1_RNA	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	127	Extracellular (Potential).					Golgi membrane|integral to membrane					0						CTGCGCTTGGGCTTCACGGTG	0.612													A	159092149	G	A	159092149	3	1	61	1	0	0	0	0	1	0	0	0	5529	1203	42	2	1301	2	FAM198B	4	159092149	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	2262068	159092149	32062127	218	44004											
TLL1	7092	broad.mit.edu	37	chr4	166915670	166915670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttattccttatgttataGgaggaaacttcactggtaag	10	6	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr4:166915670G>A	uc003irh.1	+	4	1146	c.499G>A	c.(499-501)GGA>AGA	p.G167R	TLL1_uc011cjn.1_Missense_Mutation_p.G167R|TLL1_uc011cjo.1_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	167	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTATGTTATAGGAGGAAACTT	0.358													A	166915670	G	A	166915670	3	1	61	1	0	0	0	0	1	0	0	0	15942	1001	35	4	513	4	TLL1	4	166915670	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	7823521	166915670	24238606	219	44005											
TRIP13	9319	broad.mit.edu	37	chr5	914598	914598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgtcagatcatataccctCgccagcagctgctgaccctc	8	15	2	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:914598C>T	uc003jbr.2	+	11	1149	c.1039C>T	c.(1039-1041)CGC>TGC	p.R347C		NM_004237	NP_004228	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	347					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity				0			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CATATACCCTCGCCAGCAGCT	0.512													T	914598	C	T	914598	3	4	61	1	0	0	0	0	1	0	0	0	16554	884	31	1	1085	1	TRIP13	5	914598	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08		914598	180000662	220	44006											
SRD5A1	6715	broad.mit.edu	37	chr5	6633932	6633932	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccgccccgcgtctccgcagCgcgcccaactgcatcctcct	8	22	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:6633932C>G	uc003jdw.2	+	1	433	c.243C>G	c.(241-243)AGC>AGG	p.S81R	NSUN2_uc003jdu.2_5'Flank|NSUN2_uc011cmk.1_5'Flank|NSUN2_uc003jdv.2_5'Flank|SRD5A1_uc011cml.1_RNA|SRD5A1_uc011cmm.1_Missense_Mutation_p.A90G	NM_001047	NP_001038	P18405	S5A1_HUMAN	steroid-5-alpha-reductase 1	81					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity				0					Dutasteride(DB01126)|Finasteride(DB01216)	GTCTCCGCAGCGCGCCCAACT	0.736													G	6633932	C	G	6633932	3	3	61	1	0	0	0	0	1	0	0	0	15137	767	27	5	245	5	SRD5A1	5	6633932	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	5719334	6633932	174281328	221	44007											
PAPD7	11044	broad.mit.edu	37	chr5	6753132	6753132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccccaacccgctctcgagCcctcatctgtatcataaggt	6	17	4	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:6753132C>T	uc003jdx.1	+	12	1545	c.1416C>T	c.(1414-1416)AGC>AGT	p.S472S	PAPD7_uc011cmn.1_Silent_p.S463S|PAPD7_uc010itl.1_Silent_p.S292S	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	472					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			ovary(1)	1						CGCTCTCGAGCCCTCATCTGT	0.537													T	6753132	C	T	6753132	2	4	61	1	0	0	0	0	0	0	0	1	11426	738	26	2		2	PAPD7	5	6753132	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	119200	6753132	174162128	222	44008											
DNAH5	1767	broad.mit.edu	37	chr5	13752383	13752383	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtggtttctgaagtacttgtGatttaaagacgtgatctagg	12	4	2	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:13752383G>C	uc003jfd.2	-	64	10930	c.10888C>G	c.(10888-10890)CAC>GAC	p.H3630D	DNAH5_uc003jfc.2_Translation_Start_Site	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3630	AAA 5 (By similarity).				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)					AAGTACTTGTGATTTAAAGAC	0.413									Kartagener_syndrome				C	13752383	G	C	13752383	3	2	61	1	0	0	0	0	1	0	0	0	4604	1290	45	5	3050	5	DNAH5	5	13752383	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	6999251	13752383	167162877	223	44009											
DNAH5	1767	broad.mit.edu	37	chr5	13919307	13919307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcagtttcgacttggccGccgcaagcactgccagcaca	10	15	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:13919307G>A	uc003jfd.2	-	7	995	c.953C>T	c.(952-954)GCG>GTG	p.A318V	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	318	Stem (By similarity).				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)					CGACTTGGCCGCCGCAAGCAC	0.458									Kartagener_syndrome				A	13919307	G	A	13919307	3	1	61	1	0	0	0	0	1	0	0	0	4604	1087	38	1	13213	1	DNAH5	5	13919307	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	166924	13919307	166995953	224	44010											
TRIO	7204	broad.mit.edu	37	chr5	14369554	14369554	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtggcggggcggataaGctgggcccaaactctgagac	17	9	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:14369554G>T	uc003jff.2	+	18	3144	c.3138G>T	c.(3136-3138)AAG>AAT	p.K1046N	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.K997N|TRIO_uc003jfh.1_Missense_Mutation_p.K695N	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1046					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GGGCGGATAAGCTGGGCCCAA	0.587													T	14369554	G	T	14369554	3	4	61	1	0	0	0	0	1	0	0	0	16549	962	34	5	3208	5	TRIO	5	14369554	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	450247	14369554	166545706	225	44011											
PRDM9	56979	broad.mit.edu	37	chr5	23524462	23524462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtatgtgaactgtgcccggGatgatgaagagcagaacctg	15	7	0	5			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:23524462G>A	uc003jgo.2	+	10	1152	c.970G>A	c.(970-972)GAT>AAT	p.D324N		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	324	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						CTGTGCCCGGGATGATGAAGA	0.537										HNSCC(3;0.000094)			A	23524462	G	A	23524462	3	1	61	1	0	0	0	0	1	0	0	0	12463	1174	41	4	1004	4	PRDM9	5	23524462	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	9154908	23524462	157390798	226	44012											
RAD1	5810	broad.mit.edu	37	chr5	34914837	34914837	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgcacacactttgcatttTccactgttactttgatacca	4	12	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:34914837T>C	uc003jix.2	-	2	490	c.161A>G	c.(160-162)GAA>GGA	p.E54G	RAD1_uc003jiw.2_5'UTR|RAD1_uc003jiy.2_Missense_Mutation_p.E54G|BRIX1_uc003jiz.2_5'Flank|BRIX1_uc011col.1_5'Flank|BRIX1_uc003jja.2_5'Flank	NM_002853	NP_002844	O60671	RAD1_HUMAN	RAD1 homolog	54					DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding				0	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			CTTTGCATTTTCCACTGTTAC	0.383								Other_conserved_DNA_damage_response_genes					C	34914837	T	C	34914837	3	2	61	1	0	0	0	0	1	0	0	0	12978	1783	62	3	707	3	RAD1	5	34914837	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	11390375	34914837	146000423	227	44013											
SPEF2	79925	broad.mit.edu	37	chr5	35700701	35700701	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggctgcaatagaaacctcAcagaagtggaaagaaaaaaa	9	7	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:35700701A>G	uc003jjo.2	+	16	2356	c.2245A>G	c.(2245-2247)ACA>GCA	p.T749A	SPEF2_uc003jjq.3_Missense_Mutation_p.T744A|SPEF2_uc003jjp.1_Missense_Mutation_p.T235A	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	749	Potential.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGAAACCTCACAGAAGTGGA	0.403													G	35700701	A	G	35700701	3	3	61	1	0	0	0	0	1	0	0	0	15034	159	6	3	2328	3	SPEF2	5	35700701	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	785864	35700701	145214559	228	44014											
NIPBL	25836	broad.mit.edu	37	chr5	37064899	37064899	+	Frame_Shift_Del	DEL	A	A	-													aagagtcagacattatttacAaaaaaattgctctaacgagt							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:37064898_37064898CA>C	uc003jkl.4	+	46	8818	c.8319_8319CA>C	c.(8317-8319)tacfs	p.Y2773fs	NIPBL_uc003jkk.4_3'UTR|NIPBL_uc003jkn.3_3'UTR	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2773					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACATTATTTACAAAAAAATTG	0.463													-	37064899	A	-	37064899	7	5	61	1	0	1	0	1	0	0	0	0	10428	131	5	0	8547	0	NIPBL	5	37064899	Frame_Shift_Del	DEL	A	TCGA-BR-8059-01A-11D-2340-08	1364198	37064899	143850361	229	44015											
IL6ST	3572	broad.mit.edu	37	chr5	55260015	55260015	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatatgatctgatgtaaccTtcccaagggcattctctgct	8	10	2	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:55260015T>G	uc003jqq.2	-	6	872	c.617A>C	c.(616-618)AAG>ACG	p.K206T	IL6ST_uc010iwb.2_Missense_Mutation_p.K206T|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_5'UTR|IL6ST_uc003jqr.2_Missense_Mutation_p.K206T|IL6ST_uc010iwf.1_RNA	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	206	Extracellular (Potential).|Fibronectin type-III 1.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TGATGTAACCTTCCCAAGGGC	0.363			O		hepatocellular ca								G	55260015	T	G	55260015	3	3	61	1	0	0	0	0	1	0	0	0	7703	1609	56	5	2187	5	IL6ST	5	55260015	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	18195116	55260015	125655245	230	44016											
RNF180	285671	broad.mit.edu	37	chr5	63510031	63510031	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatcctagtatgctgctgcAaagattttcagtggcccccc	9	12	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:63510031A>G	uc003jti.2	+	4	988	c.878A>G	c.(877-879)CAA>CGA	p.Q293R	RNF180_uc003jth.3_Missense_Mutation_p.Q293R|RNF180_uc010iws.2_Intron	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN	ring finger protein 180 isoform 1	293	Interaction with ZIC2 (By similarity).|Cytoplasmic (Potential).					integral to membrane|nuclear envelope	zinc ion binding				0		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		ATGCTGCTGCAAAGATTTTCA	0.423													G	63510031	A	G	63510031	3	3	61	1	0	0	0	0	1	0	0	0	13464	130	5	3	888	3	RNF180	5	63510031	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	8250016	63510031	117405229	231	44017											
IQGAP2	10788	broad.mit.edu	37	chr5	75886244	75886244	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actttttagtacatgctgcaGttatagccattaatgaagca	7	7	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:75886244G>T	uc003kek.2	+	8	874	c.652G>T	c.(652-654)GTT>TTT	p.V218F		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	218					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)		ACATGCTGCAGTTATAGCCAT	0.378													T	75886244	G	T	75886244	3	4	61	1	0	0	0	0	1	0	0	0	7815	1029	36	5	682	5	IQGAP2	5	75886244	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	12376213	75886244	105029016	232	44018											
LYSMD3	116068	broad.mit.edu	37	chr5	89815016	89815017	+	Frame_Shift_Ins	INS	-	-	TC													gatactacctcattgaggttINSctctctcttattgtctgtac							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:89815015_89815016T>TTC	uc003kjr.3	-	2	689_690	c.541_542A>GAA	c.(541-543)aacfs	p.N181fs	LYSMD3_uc010jaz.2_Intron|LYSMD3_uc003kjs.1_3'UTR	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 3 (LYSMD3), mRNA.	181					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		CTCATTGAGGTTCTCTCTCTTA	0.391													TC	89815017	-	TC	89815016	7	5	61	1	0	1	1	0	0	0	0	0	9126	1783	62	0	383	0	LYSMD3	5	89815016	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	13928772	89815016	91100244	233	44019											
ARRDC3	57561	broad.mit.edu	37	chr5	90678675	90678677	+	In_Frame_Del	DEL	CTT	CTT	-													tttatggttgaaatactctaCttcttcagtgtaattctgtg							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:90678674_90678676ACTT>A	uc003kjz.2	-	0	474_476	c.234_236AAGT>T	c.(232-237)gaagta>gaTa	p.78_79EV>D	LOC100129716_uc003kka.4_Intron	NM_020801	NP_065852	Q96B67	ARRD3_HUMAN	Homo sapiens arrestin domain containing 3 (ARRDC3), mRNA.	78					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GAAATACTCTACTTCTTCAGTGT	0.374													-	90678677	CTT	-	90678675	7	5	61	1	0	1	0	1	0	0	0	0	984	565	20	0	1041	0	ARRDC3	5	90678675	In_Frame_Del	DEL	CTT	TCGA-BR-8059-01A-11D-2340-08	863659	90678675	90236585	234	44020											
RHOBTB3	22836	broad.mit.edu	37	chr5	95119546	95119546	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgatctgtgccgagatgtAccaagtgtccagactgcagc	11	12	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:95119546A>G	uc003klm.2	+	10	2039	c.1502A>G	c.(1501-1503)TAC>TGC	p.Y501C		NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	501	Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)|skin(1)	2		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GCCGAGATGTACCAAGTGTCC	0.468													G	95119546	A	G	95119546	3	3	61	1	0	0	0	0	1	0	0	0	13335	391	14	3	1540	3	RHOBTB3	5	95119546	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	4440871	95119546	85795714	235	44021											
ERAP1	51752	broad.mit.edu	37	chr5	96126243	96126244	+	Frame_Shift_Ins	INS	-	-	T													actatcccacaggtcctcgtINStttttgtatttttatagcta							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:96126242_96126243G>GT	uc003kmm.3	-	8	1771_1772	c.1424_1425C>AC	c.(1423-1425)aacfs	p.N475fs	ERAP1_uc003kml.3_Frame_Shift_Ins_p.N475fs|ERAP1_uc010jbm.2_Frame_Shift_Ins_p.N287fs|ERAP1_uc003kmn.3_Frame_Shift_Ins_p.N475fs	NM_001040458	NP_001185470	Q9NZ08	ERAP1_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1), transcript variant 2, mRNA.	475					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		ACAGGTCCTCGTTTTTTGTATT	0.371													T	96126244	-	T	96126243	7	5	61	1	0	1	1	0	0	0	0	0	5203	1725	60	0	1478	0	ERAP1	5	96126243	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	1006697	96126243	84789017	236	44022											
CHSY3	337876	broad.mit.edu	37	chr5	129520970	129520970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccagtttgacaatgacaCtttgctgctattttgtgatg	9	8	0	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:129520970C>T	uc003kvd.2	+	3	2135	c.2135C>T	c.(2134-2136)ACT>ATT	p.T712I		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	712	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GACAATGACACTTTGCTGCTA	0.428													T	129520970	C	T	129520970	3	4	61	1	0	0	0	0	1	0	0	0	3413	565	20	4	2145	4	CHSY3	5	129520970	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	33394727	129520970	51394290	237	44023											
TGFBI	7045	broad.mit.edu	37	chr5	135383090	135383090	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagatcattgagatcgaggAcacctttgagacccttcggg	12	10	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:135383090A>G	uc003lbf.3	+	6	913	c.752A>G	c.(751-753)GAC>GGC	p.D251G	TGFBI_uc003lbg.3_5'UTR|TGFBI_uc003lbh.3_Missense_Mutation_p.D77G|TGFBI_uc011cyb.1_Missense_Mutation_p.D77G|TGFBI_uc010jed.2_5'Flank	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	251	FAS1 2.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGATCGAGGACACCTTTGAG	0.572													G	135383090	A	G	135383090	3	3	61	1	0	0	0	0	1	0	0	0	15817	275	10	3	774	3	TGFBI	5	135383090	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	5862120	135383090	45532170	238	44024											
EGR1	1958	broad.mit.edu	37	chr5	137802687	137802687	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcggcctcctccgcctcCgcctcccagagcccacccct	7	25	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:137802687C>T	uc003ldb.1	+	2	819	c.549C>T	c.(547-549)TCC>TCT	p.S183S	EGR1_uc011cyu.1_Intron	NM_001964	NP_001955	P18146	EGR1_HUMAN	early growth response 1	183					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCTCCGCCTCCGCCTCCCAGA	0.647													T	137802687	C	T	137802687	2	4	61	1	0	0	0	0	0	0	0	1	4971	639	23	1		1	EGR1	5	137802687	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2419597	137802687	43112573	239	44025											
HSPA9	3313	broad.mit.edu	37	chr5	137894317	137894317	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacactttaatttccacttgCgtttgaccatcagcggcagt	7	12	1	1	rs149852902		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:137894317C>T	uc003ldf.2	-	12	1548	c.1440G>A	c.(1438-1440)ACG>ACA	p.T480T	HSPA9_uc003lde.2_5'Flank|HSPA9_uc011cyw.1_Silent_p.T411T	NM_004134	NP_004125	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 precursor	480					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTCCACTTGCGTTTGACCAT	0.413													T	137894317	C	T	137894317	2	4	61	1	0	0	0	0	0	0	0	1	7417	755	27	1		1	HSPA9	5	137894317	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	91630	137894317	43020943	240	44026											
PCDHAC2	56134	broad.mit.edu	37	chr5	140187191	140187215	+	Frame_Shift_Del	DEL	TGTCCATCGCGGAATCCAGGCCGCT	TGTCCATCGCGGAATCCAGGCCGCT	-													cccagcaacacaaaagaaccTgtccatcgcggaatccaggc					rs113425597	byFrequency	TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:140187190_140187214CTGTCCATCGCGGAATCCAGGCCGCT>C	uc003lhi.2	+	0	519_543	c.418_442CTGTCCATCGCGGAATCCAGGCCGCT>C	c.(418-444)ctgtccatcgcggaatccaggccgcttfs	p.L140fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Frame_Shift_Del_p.L140fs|PCDHAC2_uc011daa.2_Frame_Shift_Del_p.L140fs	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	155	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.I142I(2)|p.A143E(2)|p.P146L(1)|p.R147C(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAAAGAACCTGTCCATCGCGGAATCCAGGCCGCTTGACTCTCG	0.551													-	140187215	TGTCCATCGCGGAATCCAGGCCGCT	-	140187191	7	5	61	1	0	1	0	1	0	0	0	0	11533	1580	55	0		0	PCDHAC2	5	140187191	Frame_Shift_Del	DEL	TGTCCATCGCGGAATCCAGGCCGCT	TCGA-BR-8059-01A-11D-2340-08	2292874	140187191	40728069	241	44027											
PCDHA12	56137	broad.mit.edu	37	chr5	140256667	140256667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagttccaggtgagcgCgcgcgacgccggcgtgccgc	17	15	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:140256667C>T	uc003lic.2	+	1	1737	c.1610C>T	c.(1609-1611)GCG>GTG	p.A537V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A537V	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	537	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGAGCGCGCGCGACGCC	0.687													T	140256667	C	T	140256667	3	4	61	1	0	0	0	0	1	0	0	0	11522	768	27	1	1612	1	PCDHA12	5	140256667	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	69476	140256667	40658593	242	44028											
PCDHAC1	56135	broad.mit.edu	37	chr5	140307999	140307999	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcatccagtggggccatcActgccaaaacttcctttgac	7	13	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:140307999A>G	uc003lih.2	+	1	1698	c.1522A>G	c.(1522-1524)ACT>GCT	p.T508A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.T508A	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	508	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGCCATCACTGCCAAAAC	0.512													G	140307999	A	G	140307999	3	3	61	1	0	0	0	0	1	0	0	0	11532	159	6	3	1524	3	PCDHAC1	5	140307999	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	51332	140307999	40607261	243	44029											
PCDHB1	29930	broad.mit.edu	37	chr5	140433387	140433387	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttaagcgttttatgcccaacTtccctttccctcatgccact	4	15	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:140433387T>A	uc003lik.1	+	1	2409	c.2332T>A	c.(2332-2334)TTC>ATC	p.F778I		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	778	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATGCCCAACTTCCCTTTCCC	0.468													A	140433387	T	A	140433387	3	1	61	1	0	0	0	0	1	0	0	0	11534	1609	56	5	2334	5	PCDHB1	5	140433387	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	125388	140433387	40481873	244	44030											
PCDHB2	56133	broad.mit.edu	37	chr5	140475743	140475743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccgccttcacccaaaccTcctacaccctgttcgtccgc	4	23	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:140475743T>C	uc003lil.2	+	1	1507	c.1369T>C	c.(1369-1371)TCC>CCC	p.S457P	PCDHB2_uc003lim.1_Missense_Mutation_p.S118P	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	457	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCCAAACCTCCTACACCCT	0.622													C	140475743	T	C	140475743	3	2	61	1	0	0	0	0	1	0	0	0	11542	1551	54	3	1371	3	PCDHB2	5	140475743	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	42356	140475743	40439517	245	44031											
PCDHB8	56128	broad.mit.edu	37	chr5	140559252	140559252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggctttgagcagcgaggCgctggtgcgcgtgctggtgc	18	12	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:140559252C>T	uc011dai.1	+	1	1823	c.1637C>T	c.(1636-1638)GCG>GTG	p.A546V	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	546	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCAGCGAGGCGCTGGTGCGC	0.697													T	140559252	C	T	140559252	3	4	61	1	0	0	0	0	1	0	0	0	11548	768	27	1	1639	1	PCDHB8	5	140559252	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	83509	140559252	40356008	246	44032											
PCDHB13	56123	broad.mit.edu	37	chr5	140594824	140594824	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttcagatcttgattcaGgagaaaatgggaaaattagt	11	3	3	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:140594824G>T	uc003lja.1	+	1	1316	c.1129G>T	c.(1129-1131)GGA>TGA	p.G377*		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	377	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTTGATTCAGGAGAAAATGG	0.463													T	140594824	G	T	140594824	4	4	61	1	0	0	0	0	0	1	0	0	11538	1001	35	5	1131	5	PCDHB13	5	140594824	Nonsense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	35572	140594824	40320436	247	44033											
PCDHB15	56121	broad.mit.edu	37	chr5	140625761	140625761	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaactggatcgcgaggagcaGgccgagctcagattaacctt	13	10	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:140625761G>T	uc003lje.2	+	1	615	c.615G>T	c.(613-615)CAG>CAT	p.Q205H		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	205	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGAGGAGCAGGCCGAGCTCA	0.562													T	140625761	G	T	140625761	3	4	61	1	0	0	0	0	1	0	0	0	11540	991	35	5	617	5	PCDHB15	5	140625761	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	30937	140625761	40289499	248	44034											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751508	140751508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggagcggggtggtgttcgCgcagcgagccttcgaccacg	18	12	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:140751508C>T	uc003ljw.1	+	1	1547	c.1547C>T	c.(1546-1548)GCG>GTG	p.A516V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.A516V|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	516	Extracellular (Potential).|Cadherin 5.				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)			GTGGTGTTCGCGCAGCGAGCC	0.677													T	140751508	C	T	140751508	3	4	61	1	0	0	0	0	1	0	0	0	11564	768	27	1	1549	1	PCDHGB3	5	140751508	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	125747	140751508	40163752	249	44035											
PCDHGA6	56109	broad.mit.edu	37	chr5	140754789	140754789	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgagactctggcctgaatgGcctggtaacctgttccatcc	10	13	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:140754789G>C	uc003ljy.1	+	1	1139	c.1139G>C	c.(1138-1140)GGC>GCC	p.G380A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.G380A	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	380	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTGAATGGCCTGGTAACC	0.453													C	140754789	G	C	140754789	3	2	61	1	0	0	0	0	1	0	0	0	11558	1203	42	5	1141	5	PCDHGA6	5	140754789	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	3281	140754789	40160471	250	44036											
PCDHGA8	9708	broad.mit.edu	37	chr5	140772926	140772926	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccacttctccctggacgtGcagactggagacaatggagc	11	13	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:140772926G>T	uc003lkd.1	+	1	1444	c.546G>T	c.(544-546)GTG>GTT	p.V182V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Silent_p.V182V	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	182	Extracellular (Potential).|Cadherin 2.				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)			CCCTGGACGTGCAGACTGGAG	0.617													T	140772926	G	T	140772926	2	4	61	1	0	0	0	0	0	0	0	1	11560	1306	46	5		5	PCDHGA8	5	140772926	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	18137	140772926	40142334	251	44037											
PCDHGB7	56099	broad.mit.edu	37	chr5	140798806	140798806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcagcctacctggtccaCgtgccagaaaacaaccagcc	8	16	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:140798806C>T	uc003lkn.1	+	1	1525	c.1380C>T	c.(1378-1380)CAC>CAT	p.H460H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Silent_p.H460H|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	460	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGGTCCACGTGCCAGAAA	0.572													T	140798806	C	T	140798806	2	4	61	1	0	0	0	0	0	0	0	1	11568	535	19	1		1	PCDHGB7	5	140798806	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	25880	140798806	40116454	252	44038											
DIAPH1	1729	broad.mit.edu	37	chr5	140906001	140906001	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcatccgcagcttgttatActgttcctgtgcatccttca	6	13	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:140906001A>G	uc003llb.3	-	26	3442	c.3301T>C	c.(3301-3303)TAT>CAT	p.Y1101H	DIAPH1_uc011dbd.1_5'UTR|DIAPH1_uc003llc.3_Missense_Mutation_p.Y1092H	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	1101	Potential.|FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTTGTTATACTGTTCCTGT	0.408													G	140906001	A	G	140906001	3	3	61	1	0	0	0	0	1	0	0	0	4518	391	14	3	533	3	DIAPH1	5	140906001	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	107195	140906001	40009259	253	44039											
DIAPH1	1729	broad.mit.edu	37	chr5	140908386	140908386	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagctctcactcttacgTaactcctcacatgcagcagt	6	13	3	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:140908386T>G	uc003llb.3	-	23	3042	c.2901A>C	c.(2899-2901)TTA>TTC	p.L967F	DIAPH1_uc011dbd.1_5'Flank|DIAPH1_uc003llc.3_Missense_Mutation_p.L958F|DIAPH1_uc010jgc.1_Missense_Mutation_p.L403F	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	967	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTCTTACGTAACTCCTCAC	0.453													G	140908386	T	G	140908386	3	3	61	1	0	0	0	0	1	0	0	0	4518	1635	57	5	945	5	DIAPH1	5	140908386	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	2385	140908386	40006874	254	44040											
PCDH12	51294	broad.mit.edu	37	chr5	141329002	141329002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagggggtccctacctgtgCtggggtccagcagacttgac	14	13	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:141329002C>T	uc003llx.2	-	3	4336	c.3125G>A	c.(3124-3126)AGC>AAC	p.S1042N		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	1042	Cytoplasmic (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTACCTGTGCTGGGGTCCAG	0.552													T	141329002	C	T	141329002	3	4	61	1	0	0	0	0	1	0	0	0	11510	797	28	2	437	2	PCDH12	5	141329002	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	420616	141329002	39586258	255	44041											
HTR4	3360	broad.mit.edu	37	chr5	147889351	147889351	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctctgtcctcatgcgatgAgtgctatgctggtctgccga	12	11	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:147889351A>G	uc003lpn.2	-	6	908	c.744T>C	c.(742-744)ACT>ACC	p.T248T	HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Silent_p.T248T|HTR4_uc003lpj.1_Silent_p.T248T|HTR4_uc003lpk.2_Silent_p.T248T|HTR4_uc011dby.1_Silent_p.T248T|HTR4_uc003lpl.2_Silent_p.T262T|HTR4_uc003lpm.2_Silent_p.T248T|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Silent_p.T248T	NM_000870	NP_000861	Q13639	5HT4R_HUMAN	serotonin 5-HT4 receptor isoform b	248	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	TCATGCGATGAGTGCTATGCT	0.542													G	147889351	A	G	147889351	2	3	61	1	0	0	0	0	0	0	0	1	7449	291	11	3		3	HTR4	5	147889351	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	6560349	147889351	33025909	256	44042											
SH3TC2	79628	broad.mit.edu	37	chr5	148406600	148406605	+	In_Frame_Del	DEL	GATAGT	GATAGT	-													gagtcgtacagcctgcaggaGatagtttctggctggatgct					rs73795753	byFrequency	TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:148406599_148406604AGATAGT>A	uc003lpu.3	-	10	2843_2848	c.2691_2696ACTATCT>T	c.(2689-2697)aactatctc>aaTc	p.YL898del	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_In_Frame_Del_p.YL542del|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_In_Frame_Del_p.YL445del|SH3TC2_uc010jgx.3_In_Frame_Del_p.YL891del|SH3TC2_uc003lpv.1_In_Frame_Del_p.YL445del|SH3TC2_uc011dbz.1_In_Frame_Del_p.YL783del	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	898							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCTGCAGGAGATAGTTTCTGGCTG	0.524													-	148406605	GATAGT	-	148406600	7	5	61	1	0	1	0	1	0	0	0	0	14262	942	33	0	1199	0	SH3TC2	5	148406600	In_Frame_Del	DEL	GATAGT	TCGA-BR-8059-01A-11D-2340-08	517249	148406600	32508660	257	44043											
ODZ2	57451	broad.mit.edu	37	chr5	167489185	167489185	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattcacatcagtcagccccAgttcttaaagttcaacatct	4	12	6	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:167489185A>G	uc010jjd.2	+	7	1430	c.1430A>G	c.(1429-1431)CAG>CGG	p.Q477R	ODZ2_uc003lzq.2_Missense_Mutation_p.Q356R|ODZ2_uc003lzr.3_Missense_Mutation_p.Q245R	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AGTCAGCCCCAGTTCTTAAAG	0.493													G	167489185	A	G	167489185	3	3	61	1	0	0	0	0	1	0	0	0	10835	188	7	3	1456	3	ODZ2	5	167489185	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	19082585	167489185	13426075	258	44044											
DOCK2	1794	broad.mit.edu	37	chr5	169461447	169461447	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaaccattgccaagtcggTggagaacttcgtgaacctgg	11	12	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:169461447T>G	uc003maf.2	+	35	3592	c.3512T>G	c.(3511-3513)GTG>GGG	p.V1171G	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.V663G	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1171	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCAAGTCGGTGGAGAACTTC	0.572													G	169461447	T	G	169461447	3	3	61	1	0	0	0	0	1	0	0	0	4687	1696	59	5	3650	5	DOCK2	5	169461447	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	1972262	169461447	11453813	259	44045											
DOCK2	1794	broad.mit.edu	37	chr5	169506041	169506041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaggaaccgatctcccCggggagcaccctgcctgagg	15	14	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:169506041C>T	uc003maf.2	+	49	5137	c.5057C>T	c.(5056-5058)CCG>CTG	p.P1686L	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.P1178L|DOCK2_uc003mah.2_Missense_Mutation_p.P242L	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1686					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGATCTCCCCGGGGAGCACC	0.557													T	169506041	C	T	169506041	3	4	61	1	0	0	0	0	1	0	0	0	4687	652	23	1	5251	1	DOCK2	5	169506041	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	44594	169506041	11409219	260	44046											
NKX2-5	1482	broad.mit.edu	37	chr5	172660043	172660043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacgctggccagctggtcGcgttcgggggccgacaggta	17	12	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:172660043G>A	uc003mcm.1	-	2	680	c.504C>T	c.(502-504)CGC>CGT	p.R168R	NKX2-5_uc011dfe.1_3'UTR|NKX2-5_uc010jjt.1_3'UTR	NM_004387	NP_004378	P52952	NKX25_HUMAN	NK2 transcription factor related, locus 5	168	Homeobox.				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCAGCTGGTCGCGTTCGGGGG	0.662													A	172660043	G	A	172660043	2	1	61	1	0	0	0	0	0	0	0	1	10453	1074	38	1		1	NKX2-5	5	172660043	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	3154002	172660043	8255217	261	44047											
FAF2	23197	broad.mit.edu	37	chr5	175933891	175933910	+	Frame_Shift_Del	DEL	ACAGGAGGCCGGACTCAGCC	ACAGGAGGCCGGACTCAGCC	-													tggcccaatccccctacgctAcaggaggccggactcagcca							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr5:175933890_175933909TACAGGAGGCCGGACTCAGCC>T	uc003mej.4	+	10	1330_1349	c.1277_1296TACAGGAGGCCGGACTCAGCC>T	c.(1276-1296)ctacaggaggccggactcagcfs	p.L426fs		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	Homo sapiens Fas associated factor family member 2 (FAF2), mRNA.	426	UBX.				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	p.G430A(2)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CCCCCTACGCTACAGGAGGCCGGACTCAGCCACACAGAAG	0.495													-	175933910	ACAGGAGGCCGGACTCAGCC	-	175933891	7	5	61	1	0	1	0	1	0	0	0	0	5370	378	14	0	1320	0	FAF2	5	175933891	Frame_Shift_Del	DEL	ACAGGAGGCCGGACTCAGCC	TCGA-BR-8059-01A-11D-2340-08	3273848	175933891	4981369	262	44048											
RREB1	6239	broad.mit.edu	37	chr6	7226887	7226887	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggaagtttcctcgcatttctCaggtattctgatcagcccat	8	11	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:7226887C>G	uc003mxc.2	+	9	1285	c.895C>G	c.(895-897)CAG>GAG	p.Q299E	RREB1_uc003mxb.2_Missense_Mutation_p.Q299E|RREB1_uc010jnx.2_Missense_Mutation_p.Q299E	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	299					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TCGCATTTCTCAGGTATTCTG	0.483													G	7226887	C	G	7226887	3	3	61	1	0	0	0	0	1	0	0	0	13679	827	29	5	917	5	RREB1	6	7226887	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08		7226887	163888180	263	44049											
SNRNP48	154007	broad.mit.edu	37	chr6	7601644	7601644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatctaactcaagctgatcGtcttgccctctatgatttcg	7	11	4	3	rs143226311		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:7601644G>A	uc003mxr.2	+	5	541	c.482G>A	c.(481-483)CGT>CAT	p.R161H	SNRNP48_uc003mxs.2_RNA	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	U11/U12 snRNP 48K	161					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding				0						CAAGCTGATCGTCTTGCCCTC	0.368													A	7601644	G	A	7601644	3	1	61	1	0	0	0	0	1	0	0	0	14857	1145	40	1	500	1	SNRNP48	6	7601644	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	374757	7601644	163513423	264	44050											
NEDD9	4739	broad.mit.edu	37	chr6	11190485	11190485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagctgcttggcgtcatcGggcaccgtctttgccaccat	12	13	2	1	rs146690144		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:11190485G>A	uc003mzv.2	-	5	1784	c.1617C>T	c.(1615-1617)CCC>CCT	p.P539P	NEDD9_uc010joz.2_Silent_p.P539P|NEDD9_uc003mzw.3_Silent_p.P393P	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	539					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGGCGTCATCGGGCACCGTCT	0.562													A	11190485	G	A	11190485	2	1	61	1	0	0	0	0	0	0	0	1	10313	1103	39	1		1	NEDD9	6	11190485	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	3588841	11190485	159924582	265	44051											
PHACTR1	221692	broad.mit.edu	37	chr6	13206135	13206135	+	Frame_Shift_Del	DEL	G	G	-													gtcatgatctgtatgcccgtGggggggccagacctctcact							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:13206134_13206134TG>T	uc003nah.2	+	7	1125	c.752_752TG>T	c.(751-753)gtgfs	p.V251fs	PHACTR1_uc011dir.2_Frame_Shift_Del_p.V320fs|PHACTR1_uc010jpc.3_Frame_Shift_Del_p.V251fs|PHACTR1_uc003nag.2_Frame_Shift_Del_p.V251fs	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCA	0.597													-	13206135	G	-	13206135	7	5	61	1	0	1	0	1	0	0	0	0	11809	1335	47	0	775	0	PHACTR1	6	13206135	Frame_Shift_Del	DEL	G	TCGA-BR-8059-01A-11D-2340-08	2015650	13206135	157908932	266	44052											
JARID2	3720	broad.mit.edu	37	chr6	15501398	15501398	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctggagaagcgcaaggggCcgctggaaggccacacagag	16	11	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:15501398C>A	uc003nbj.2	+	8	2450	c.2206C>A	c.(2206-2208)CCG>ACG	p.P736T	JARID2_uc011div.1_Missense_Mutation_p.P564T|JARID2_uc011diw.1_Missense_Mutation_p.P698T	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	736					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GCGCAAGGGGCCGCTGGAAGG	0.637													A	15501398	C	A	15501398	3	1	61	1	0	0	0	0	1	0	0	0	7945	739	26	5	2236	5	JARID2	6	15501398	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2295263	15501398	155613669	267	44053											
FAM8A1	51439	broad.mit.edu	37	chr6	17608496	17608497	+	Frame_Shift_Ins	INS	-	-	T													tgctttcatcacactgctgtINStttttcagcataatcgaaca							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:17608495_17608496G>GT	uc003ncc.3	+	4	1290_1291	c.1167_1168G>GT	c.(1165-1170)ctgtttfs	p.L389fs		NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	Homo sapiens family with sequence similarity 8, member A1 (FAM8A1), mRNA.	389	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			TCACACTGCTGTTTTTTCAGCA	0.381													T	17608497	-	T	17608496	7	5	61	1	0	1	1	0	0	0	0	0	5649	1725	60	0	1186	0	FAM8A1	6	17608496	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	2107098	17608496	153506571	268	44054											
HIST1H2AH	85235	broad.mit.edu	37	chr6	27114929	27114929	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtctggacgtggcaagcaaGgcggtaaagctcgcgccaag	15	10	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:27114929G>T	uc003niz.2	+	1	22	c.22G>T	c.(22-24)GGC>TGC	p.G8C	HIST1H2BK_uc003nix.1_5'Flank|hsa-mir-3143|MI0014167_5'Flank	NM_080596	NP_542163	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	8					nucleosome assembly	nucleosome|nucleus	DNA binding				0						TGGCAAGCAAGGCGGTAAAGC	0.557													T	27114929	G	T	27114929	3	4	61	1	0	0	0	0	1	0	0	0	7134	1000	35	5	24	5	HIST1H2AH	6	27114929	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	9506433	27114929	144000138	269	44055											
DDR1	780	broad.mit.edu	37	chr6	30865334	30865334	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggacaaggcagccgaggggGcccctggggacgggcaggct	20	11	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:30865334G>C	uc003nrr.2	+	16	2435	c.2176G>C	c.(2176-2178)GCC>CCC	p.A726P	DDR1_uc010jse.2_Missense_Mutation_p.A689P|DDR1_uc003nrq.2_Missense_Mutation_p.A689P|DDR1_uc003nrs.2_Missense_Mutation_p.A726P|DDR1_uc003nrt.2_Missense_Mutation_p.A689P|DDR1_uc011dms.1_Missense_Mutation_p.A707P|DDR1_uc003nru.2_Missense_Mutation_p.A689P|DDR1_uc003nrv.2_Missense_Mutation_p.A732P|DDR1_uc003nrw.1_Missense_Mutation_p.A461P|DDR1_uc003nrz.1_Missense_Mutation_p.A51P	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	726	Cytoplasmic (Potential).|Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	AGCCGAGGGGGCCCCTGGGGA	0.647													C	30865334	G	C	30865334	3	2	61	1	0	0	0	0	1	0	0	0	4336	1203	42	5	2248	5	DDR1	6	30865334	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	3750405	30865334	140249733	270	44056											
DPCR1	135656	broad.mit.edu	37	chr6	30919972	30919972	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcacaaagactataaaacCttcagtcaaggtcacaggag	8	9	4	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:30919972C>A	uc003nsg.2	+	2	3731	c.3731C>A	c.(3730-3732)CCT>CAT	p.P1244H		NM_080870	NP_543146	Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	368	Extracellular (Potential).|Thr-rich.					integral to membrane					0						ACTATAAAACCTTCAGTCAAG	0.443													A	30919972	C	A	30919972	3	1	61	1	0	0	0	0	1	0	0	0	4712	681	24	5	3737	5	DPCR1	6	30919972	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	54638	30919972	140195095	271	44057											
BAT5	7920	broad.mit.edu	37	chr6	31655315	31655315	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgtccatctgcactcatgTcctcccctgcagagaggagg	11	15	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:31655315T>G	uc003nvy.1	-	19	1583	c.1553A>C	c.(1552-1554)GAC>GCC	p.D518A	BAT5_uc003nvx.1_Missense_Mutation_p.D299A|BAT5_uc011dny.1_Missense_Mutation_p.D485A|BAT5_uc003nvz.1_Missense_Mutation_p.D299A|BAT5_uc011dnz.1_Missense_Mutation_p.D299A	NM_021160	NP_066983	O95870	ABHGA_HUMAN	HLA-B associated transcript 5	518						integral to membrane	hydrolase activity|protein binding				0						TGCACTCATGTCCTCCCCTGC	0.587													G	31655315	T	G	31655315	3	3	61	1	0	0	0	0	1	0	0	0	1324	1667	58	5	131	5	BAT5	6	31655315	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	735343	31655315	139459752	272	44058											
FKBPL	63943	broad.mit.edu	37	chr6	32096678	32096678	+	Frame_Shift_Del	DEL	C	C	-													cccaagggcagcctgggcaaCcccccttcggtataaggcct							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:32096677_32096677AC>A	uc003nzr.3	-	1	1151	c.881_881GT>T	c.(880-882)gttfs	p.V294fs	ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Frame_Shift_Del_p.V294fs	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	Homo sapiens FK506 binding protein like (FKBPL), mRNA.	294					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										AGCCTGGGCAACCCCCCTTCG	0.592													-	32096678	C	-	32096678	7	5	61	1	0	1	0	1	0	0	0	0	5916	507	18	0	173	0	FKBPL	6	32096678	Frame_Shift_Del	DEL	C	TCGA-BR-8059-01A-11D-2340-08	441363	32096678	139018389	273	44059											
TAP1	6890	broad.mit.edu	37	chr6	32821354	32821354	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agtactgtccccagccatgcGagagaagctccggggaggca	14	12	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:32821354G>C	uc003ocg.2	-	1	395	c.240C>G	c.(238-240)CTC>CTG	p.L80L	TAP1_uc011dqi.1_5'Flank|PSMB9_uc011dqj.1_5'Flank|PSMB9_uc003sga.2_5'Flank	NM_000593	NP_000584	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family	80	Helical; Name=1; (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			skin(1)	1						CCAGCCATGCGAGAGAAGCTC	0.711													C	32821354	G	C	32821354	2	2	61	1	0	0	0	0	0	0	0	1	15547	1045	37	5		5	TAP1	6	32821354	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	724676	32821354	138293713	274	44060											
MDGA1	266727	broad.mit.edu	37	chr6	37619916	37619916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctaggctgctggtgactgCgggcagctcaggatcattgc	14	11	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:37619916C>T	uc003onu.1	-	7	2362	c.1183G>A	c.(1183-1185)GCA>ACA	p.A395T	MDGA1_uc003onw.3_RNA	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	395	Ig-like 4.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						CTGGTGACTGCGGGCAGCTCA	0.602													T	37619916	C	T	37619916	3	4	61	1	0	0	0	0	1	0	0	0	9406	768	27	1	1728	1	MDGA1	6	37619916	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	4798562	37619916	133495151	275	44061											
PGC	5225	broad.mit.edu	37	chr6	41705491	41705491	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaggatataggaggaaggtgGcagagggaactccacaccat	15	7	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:41705491G>C	uc003ora.1	-	8	1040	c.991C>G	c.(991-993)CCA>GCA	p.P331A	TFEB_uc003oqs.1_5'Flank|TFEB_uc003oqt.1_5'Flank|TFEB_uc003oqu.1_5'Flank|TFEB_uc010jxq.1_5'Flank	NM_002630	NP_002621	P20142	PEPC_HUMAN	progastricsin (pepsinogen C) precursor	331					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity				0	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GAGGAAGGTGGCAGAGGGAAC	0.532													C	41705491	G	C	41705491	3	2	61	1	0	0	0	0	1	0	0	0	11785	1203	42	5	183	5	PGC	6	41705491	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	4085575	41705491	129409576	276	44062											
TRERF1	55809	broad.mit.edu	37	chr6	42227283	42227283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgaggacgcgcggggagCgcagctggctctggtacagg	18	13	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:42227283C>T	uc003osd.2	-	9	2626	c.2063G>A	c.(2062-2064)CGC>CAC	p.R688H	TRERF1_uc011duq.1_Missense_Mutation_p.R605H|TRERF1_uc003osb.2_Missense_Mutation_p.R444H|TRERF1_uc003osc.2_Missense_Mutation_p.R444H|TRERF1_uc003ose.2_Missense_Mutation_p.R708H	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	688	Pro-rich.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCGCGGGGAGCGCAGCTGGCT	0.731													T	42227283	C	T	42227283	3	4	61	1	0	0	0	0	1	0	0	0	16472	768	27	1	1579	1	TRERF1	6	42227283	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	521792	42227283	128887784	277	44063											
CUL7	9820	broad.mit.edu	37	chr6	43013029	43013029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggctccaggcctgtgcccGaaccatgtagaagaggcgtg	14	12	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:43013029G>A	uc003otq.2	-	15	3277	c.2974C>T	c.(2974-2976)CGG>TGG	p.R992W	CUL7_uc010jyg.2_Missense_Mutation_p.R271W|CUL7_uc011dvb.1_Missense_Mutation_p.R1076W|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	992	DOC.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCCTGTGCCCGAACCATGTAG	0.602													A	43013029	G	A	43013029	3	1	61	1	0	0	0	0	1	0	0	0	4060	1057	37	1	2170	1	CUL7	6	43013029	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	785746	43013029	128102038	278	44064											
ABCC10	89845	broad.mit.edu	37	chr6	43415496	43415496	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgtaccggccagggctgccGaatgccctggatggagtgac	16	12	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:43415496G>A	uc003ouy.1	+	18	3995	c.3780G>A	c.(3778-3780)CCG>CCA	p.P1260P	ABCC10_uc003ouz.1_Silent_p.P1232P|ABCC10_uc010jyo.1_Silent_p.P366P	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	1260	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAGGGCTGCCGAATGCCCTGG	0.657													A	43415496	G	A	43415496	2	1	61	1	0	0	0	0	0	0	0	1	50	1045	37	1		1	ABCC10	6	43415496	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	402467	43415496	127699571	279	44065											
PKHD1	5314	broad.mit.edu	37	chr6	51907739	51907739	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctccagtggcactgatGgcaagaccagagggtctcac	11	12	3	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:51907739G>A	uc003pah.1	-	27	3291	c.3015C>T	c.(3013-3015)GCC>GCT	p.A1005A	PKHD1_uc003pai.2_Silent_p.A1005A	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1005	IPT/TIG 4.|Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TGGCACTGATGGCAAGACCAG	0.473													A	51907739	G	A	51907739	2	1	61	1	0	0	0	0	0	0	0	1	11971	1335	47	4		4	PKHD1	6	51907739	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	8492243	51907739	119207328	280	44066											
MCM3	4172	broad.mit.edu	37	chr6	52133966	52133966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgctcatgcgggccttcGcatgggctgtggccagtcga	14	12	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:52133966G>A	uc003pan.1	-	13	1996	c.1886C>T	c.(1885-1887)GCG>GTG	p.A629V	MCM3_uc011dwu.1_Missense_Mutation_p.A583V	NM_002388	NP_002379	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	629					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)|lung(1)|skin(1)	3	Lung NSC(77;0.0931)					GCGGGCCTTCGCATGGGCTGT	0.507													A	52133966	G	A	52133966	3	1	61	1	0	0	0	0	1	0	0	0	9387	1087	38	1	560	1	MCM3	6	52133966	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	226227	52133966	118981101	281	44067											
EFHC1	114327	broad.mit.edu	37	chr6	52329713	52329713	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacttccctcagtgtgtgCtagaaatctctgaccaagaa	8	10	2	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:52329713C>T	uc003pap.3	+	6	1152	c.937C>T	c.(937-939)CTA>TTA	p.L313L	EFHC1_uc011dwv.1_Silent_p.L222L|EFHC1_uc011dww.1_Silent_p.L294L	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	313	DM10 2.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)					TCAGTGTGTGCTAGAAATCTC	0.393													T	52329713	C	T	52329713	2	4	61	1	0	0	0	0	0	0	0	1	4946	796	28	2		2	EFHC1	6	52329713	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	195747	52329713	118785354	282	44068											
FAM83B	222584	broad.mit.edu	37	chr6	54805046	54805046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgatagtctcagtgtggCgtcctcatcacgggaaggct	12	10	4	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:54805046C>T	uc003pck.2	+	5	1393	c.1277C>T	c.(1276-1278)GCG>GTG	p.A426V		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	426										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					CTCAGTGTGGCGTCCTCATCA	0.483													T	54805046	C	T	54805046	3	4	61	1	0	0	0	0	1	0	0	0	5634	768	27	1	1291	1	FAM83B	6	54805046	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2475333	54805046	116310021	283	44069											
COL21A1	81578	broad.mit.edu	37	chr6	56006611	56006611	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctcgccctggttctcctTtgtaacctggtagtcctcga	8	14	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:56006611T>C	uc003pcs.2	-	12	1746	c.1514A>G	c.(1513-1515)AAA>AGA	p.K505R	COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.K505R|COL21A1_uc003pcu.1_Missense_Mutation_p.K502R	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	505	Collagen-like 1.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGGTTCTCCTTTGTAACCTGG	0.338													C	56006611	T	C	56006611	3	2	61	1	0	0	0	0	1	0	0	0	3680	1841	64	3	1435	3	COL21A1	6	56006611	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	1201565	56006611	115108456	284	44070											
BAI3	577	broad.mit.edu	37	chr6	69665963	69665963	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggagccagtgctcagtaAcgtgctcgaatgggactcag	14	10	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:69665963A>C	uc003pev.3	+	7	1691	c.1243A>C	c.(1243-1245)ACG>CCG	p.T415P	BAI3_uc010kak.2_Missense_Mutation_p.T415P	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	415	TSP type-1 3.|Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				GTGCTCAGTAACGTGCTCGAA	0.537													C	69665963	A	C	69665963	3	2	61	1	0	0	0	0	1	0	0	0	1300	43	2	5	1261	5	BAI3	6	69665963	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	13659352	69665963	101449104	285	44071											
EEF1A1	1915	broad.mit.edu	37	chr6	74228300	74228300	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taccgggtttgagaacaccaGtctccactcggccaacagga	10	13	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:74228300G>C	uc003phi.2	-	5	843	c.806C>G	c.(805-807)ACT>AGT	p.T269S	EEF1A1_uc003phd.2_5'UTR|EEF1A1_uc003phe.2_Missense_Mutation_p.T259S|EEF1A1_uc003phf.2_Missense_Mutation_p.T269S|EEF1A1_uc003phg.2_Missense_Mutation_p.T269S|EEF1A1_uc003phh.2_Missense_Mutation_p.T115S|EEF1A1_uc003phj.2_Missense_Mutation_p.T269S|EEF1A1_uc003phk.2_Missense_Mutation_p.T269S|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron	NM_001402	NP_001393	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha	269						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0						GAGAACACCAGTCTCCACTCG	0.423											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C	74228300	G	C	74228300	3	2	61	1	0	0	0	0	1	0	0	0	4923	1029	36	5	594	5	EEF1A1	6	74228300	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	4562337	74228300	96886767	286	44072											
FILIP1	27145	broad.mit.edu	37	chr6	76063371	76063376	+	In_Frame_Del	DEL	CAGCAA	CAGCAA	-													cgcctatgacacttctcggcCagcaacagctgctctagcat							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:76063370_76063375CCAGCAA>C	uc010kbe.3	-	4	1048_1053	c.518_523TTGCTGG>G	c.(517-525)ttgctggcc>tGcc	p.173_175LLA>C	FILIP1_uc003phy.1_In_Frame_Del_p.170_172LLA>C|FILIP1_uc003phz.3_In_Frame_Del_p.71_73LLA>C|FILIP1_uc003pia.3_In_Frame_Del_p.170_172LLA>C	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	170										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CACTTCTCGGCCAGCAACAGCTGCTC	0.466													-	76063376	CAGCAA	-	76063371	7	5	61	1	0	1	0	1	0	0	0	0	5894	581	21	0	3140	0	FILIP1	6	76063371	In_Frame_Del	DEL	CAGCAA	TCGA-BR-8059-01A-11D-2340-08	1835071	76063371	95051696	287	44073											
MDN1	23195	broad.mit.edu	37	chr6	90422432	90422432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctggccacagtcccatgCcaagaatggagtctccccag	9	14	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:90422432C>T	uc003pnn.1	-	48	7408	c.7292G>A	c.(7291-7293)GGC>GAC	p.G2431D		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2431					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAGTCCCATGCCAAGAATGGA	0.458													T	90422432	C	T	90422432	3	4	61	1	0	0	0	0	1	0	0	0	9415	739	26	2	9718	2	MDN1	6	90422432	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	14359061	90422432	80692635	288	44074											
SIM1	6492	broad.mit.edu	37	chr6	100838323	100838323	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagatgggaagttacatcaaAgtgtgagccattacagccca	10	9	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:100838323A>T	uc003pqj.3	-	11	2422	c.2215T>A	c.(2215-2217)TTT>ATT	p.F739I	SIM1_uc010kcu.2_Missense_Mutation_p.F739I	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	739	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTTACATCAAAGTGTGAGCCA	0.423													T	100838323	A	T	100838323	3	4	61	1	0	0	0	0	1	0	0	0	14323	72	3	5	89	5	SIM1	6	100838323	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	10415891	100838323	70276744	289	44075											
MICAL1	64780	broad.mit.edu	37	chr6	109770982	109770982	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacagaagctggtacaggcTctcactgagggggtgagggt	17	7	1	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:109770982T>G	uc003ptj.2	-	9	1566	c.1312A>C	c.(1312-1314)AGC>CGC	p.S438R	MICAL1_uc003ptk.2_Missense_Mutation_p.S438R|MICAL1_uc010kdr.2_Missense_Mutation_p.S352R|MICAL1_uc011eaq.1_Missense_Mutation_p.S457R	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	438					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TGGTACAGGCTCTCACTGAGG	0.587													G	109770982	T	G	109770982	3	3	61	1	0	0	0	0	1	0	0	0	9569	1551	54	5	1955	5	MICAL1	6	109770982	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	8932659	109770982	61344085	290	44076											
TBPL1	9519	broad.mit.edu	37	chr6	134305583	134305583	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccatttgaaatccgtttgCcagaattcacaaagaacaat	6	9	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:134305583C>A	uc010kgg.2	+	5	912	c.352C>A	c.(352-354)CCA>ACA	p.P118T	TBPL1_uc003qel.2_Missense_Mutation_p.P118T	NM_004865	NP_004856	P62380	TBPL1_HUMAN	TBP-like 1	118					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	cytoplasm	DNA binding|protein binding|transcription coactivator activity				0	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		AATCCGTTTGCCAGAATTCAC	0.318													A	134305583	C	A	134305583	3	1	61	1	0	0	0	0	1	0	0	0	15642	739	26	5	366	5	TBPL1	6	134305583	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	24534601	134305583	36809484	291	44077											
PEX7	5191	broad.mit.edu	37	chr6	137187777	137187777	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttactaggtgatcagactcTgagaatatgggatgtgaagg	13	4	2	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:137187777T>C	uc003qhd.2	+	6	641	c.539T>C	c.(538-540)CTG>CCG	p.L180P	PEX7_uc010kgx.2_RNA	NM_000288	NP_000279	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	180	WD 3.				ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		GATCAGACTCTGAGAATATGG	0.393													C	137187777	T	C	137187777	3	2	61	1	0	0	0	0	1	0	0	0	11751	1580	55	3	561	3	PEX7	6	137187777	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	2882194	137187777	33927290	292	44078											
VTA1	51534	broad.mit.edu	37	chr6	142468427	142468427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgagttcggagtagagatGgccgcgcttgcaccgctgcc	16	11	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:142468427G>A	uc003qiw.2	+	1	18	c.3G>A	c.(1-3)ATG>ATA	p.M1I	VTA1_uc011edt.1_RNA|VTA1_uc011edu.1_5'UTR	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN	Vps20-associated 1 homolog	1					cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding				0	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		GAGTAGAGATGGCCGCGCTTG	0.632											OREG0017699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	142468427	G	A	142468427	3	1	61	1	0	0	0	0	1	0	0	0	17230	1348	47	4	5	4	VTA1	6	142468427	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	5280650	142468427	28646640	293	44079											
SYNE1	23345	broad.mit.edu	37	chr6	152639292	152639292	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagtcagttttcctatcttcTtggccagtggcttacccagt	8	12	3	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:152639292T>A	uc010kiw.2	-	86	17098	c.16496A>T	c.(16495-16497)AAG>ATG	p.K5499M	SYNE1_uc010kiv.2_Missense_Mutation_p.K23M|SYNE1_uc003qos.3_Missense_Mutation_p.K23M|SYNE1_uc003qot.3_Missense_Mutation_p.K5428M|SYNE1_uc003qou.3_Missense_Mutation_p.K5499M|SYNE1_uc010kiz.2_Missense_Mutation_p.K1254M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5499	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)		TCCTATCTTCTTGGCCAGTGG	0.453										HNSCC(10;0.0054)			A	152639292	T	A	152639292	3	1	61	1	0	0	0	0	1	0	0	0	15442	1609	56	5	10214	5	SYNE1	6	152639292	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	10170865	152639292	18475775	294	44080											
IPCEF1	26034	broad.mit.edu	37	chr6	154489165	154489165	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttttagtcgaaggtcgtcGgtccccaagaggagatagac	12	9	0	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:154489165G>A	uc003qpx.2	-	11	1147	c.991C>T	c.(991-993)CGA>TGA	p.R331*	OPRM1_uc003qpt.1_Intron|IPCEF1_uc003qpv.2_Nonsense_Mutation_p.R202*|IPCEF1_uc003qpw.2_Nonsense_Mutation_p.R332*|IPCEF1_uc010kjh.2_Nonsense_Mutation_p.R332*	NM_015553	NP_056368	Q8WWN9	ICEF1_HUMAN	phosphoinositide-binding protein PIP3-E isoform	331					response to oxidative stress	cytoplasm|plasma membrane	oxygen transporter activity|peroxidase activity				0						GAAGGTCGTCGGTCCCCAAGA	0.368													A	154489165	G	A	154489165	4	1	61	1	0	0	0	0	0	1	0	0	7791	1124	39	1	330	1	IPCEF1	6	154489165	Nonsense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1849873	154489165	16625902	295	44081											
TFB1M	51106	broad.mit.edu	37	chr6	155632375	155632375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccaccagaagttcagcgaCgtcggcattaagaatagatc	9	10	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:155632375C>T	uc003qqj.3	-	2	296	c.232G>A	c.(232-234)GTC>ATC	p.V78I	TFB1M_uc003qqk.2_Intron	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			skin(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		AGTTCAGCGACGTCGGCATTA	0.433													T	155632375	C	T	155632375	3	4	61	1	0	0	0	0	1	0	0	0	15790	536	19	1	832	1	TFB1M	6	155632375	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1143210	155632375	15482692	296	44082											
TULP4	56995	broad.mit.edu	37	chr6	158922885	158922885	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccaaccagacgacagcTgtagggacagcagaacatgc	11	12	0	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:158922885T>C	uc003qrf.2	+	13	3547	c.2190T>C	c.(2188-2190)GCT>GCC	p.A730A	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	730					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AGACGACAGCTGTAGGGACAG	0.567													C	158922885	T	C	158922885	2	2	61	1	0	0	0	0	0	0	0	1	16773	1567	55	3		3	TULP4	6	158922885	Silent	SNP	T	TCGA-BR-8059-01A-11D-2340-08	3290510	158922885	12192182	297	44083											
EZR	7430	broad.mit.edu	37	chr6	159204595	159204595	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagtccaagggcatcaactcCaagccaaaggtctgttcctt	8	13	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:159204595C>G	uc003qrt.3	-	6	870	c.655G>C	c.(655-657)GGA>CGA	p.G219R	EZR_uc011efs.1_Missense_Mutation_p.G187R|EZR_uc003qru.3_Missense_Mutation_p.G219R	NM_003379	NP_003370	P15311	EZRI_HUMAN	ezrin	219	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GCATCAACTCCAAGCCAAAGG	0.398													G	159204595	C	G	159204595	3	3	61	1	0	0	0	0	1	0	0	0	5335	603	21	5	1137	5	EZR	6	159204595	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	281710	159204595	11910472	298	44084											
WTAP	9589	broad.mit.edu	37	chr6	160164762	160164762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaacagcaggagtctgcaCgcagggaaaacatccttgta	10	10	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:160164762C>T	uc003qsl.2	+	5	433	c.211C>T	c.(211-213)CGC>TGC	p.R71C	WTAP_uc010kjx.2_Missense_Mutation_p.R71C|WTAP_uc003qsk.2_Missense_Mutation_p.R71C|WTAP_uc003qsm.1_RNA|WTAP_uc003qsn.2_Missense_Mutation_p.R71C	NM_004906	NP_004897	Q15007	FL2D_HUMAN	Wilms' tumour 1-associating protein isoform 1	71					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus					0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GGAGTCTGCACGCAGGGAAAA	0.353													T	160164762	C	T	160164762	3	4	61	1	0	0	0	0	1	0	0	0	17406	536	19	1	225	1	WTAP	6	160164762	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	960167	160164762	10950305	299	44085											
IGF2R	3482	broad.mit.edu	37	chr6	160485488	160485489	+	Frame_Shift_Ins	INS	-	-	G													tgttaaaaatgaacttcacgINSgggggggacacttgccataa							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:160485487_160485488C>CG	uc003qta.3	+	27	4089_4090	c.3941_3942C>CG	c.(3940-3942)acgfs	p.T1314fs		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1314					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ATGAACTTCACGGGGGGGGACA	0.505													G	160485489	-	G	160485488	7	5	61	1	0	1	1	0	0	0	0	0	7576	1103	39	0	4052	0	IGF2R	6	160485488	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	320726	160485488	10629579	300	44086											
MAP3K4	4216	broad.mit.edu	37	chr6	161494549	161494549	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggcctgctgatgaagcagTactaccagttcatgctgcag	12	11	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:161494549T>C	uc003qtn.2	+	5	2144	c.2002T>C	c.(2002-2004)TAC>CAC	p.Y668H	MAP3K4_uc010kkc.1_Missense_Mutation_p.Y668H|MAP3K4_uc003qto.2_Missense_Mutation_p.Y668H|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.Y121H	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	668					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GATGAAGCAGTACTACCAGTT	0.502													C	161494549	T	C	161494549	3	2	61	1	0	0	0	0	1	0	0	0	9252	1638	57	3	2020	3	MAP3K4	6	161494549	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	1009061	161494549	9620518	301	44087											
MAP3K4	4216	broad.mit.edu	37	chr6	161510388	161510388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actagttgtcatgcagtctgCgcatctcacaattcagagaa	8	10	4	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr6:161510388C>T	uc003qtn.2	+	11	3000	c.2858C>T	c.(2857-2859)GCG>GTG	p.A953V	MAP3K4_uc010kkc.1_Missense_Mutation_p.A953V|MAP3K4_uc003qto.2_Missense_Mutation_p.A953V|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.A406V|MAP3K4_uc003qtp.2_5'Flank	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	953					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ATGCAGTCTGCGCATCTCACA	0.453													T	161510388	C	T	161510388	3	4	61	1	0	0	0	0	1	0	0	0	9252	768	27	1	2900	1	MAP3K4	6	161510388	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	15839	161510388	9604679	302	44088											
GPER	2852	broad.mit.edu	37	chr7	1131429	1131429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggcaccgcgcagcctgCggcccccaacaccacctccc	8	24	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:1131429C>T	uc010ksd.1	+	2	454	c.65C>T	c.(64-66)GCG>GTG	p.A22V	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.A22V|GPER_uc003ska.1_Missense_Mutation_p.A22V|GPER_uc003skb.2_Missense_Mutation_p.A22V	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	22	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		GCGCAGCCTGCGGCCCCCAAC	0.652													T	1131429	C	T	1131429	3	4	61	1	0	0	0	0	1	0	0	0	6607	768	27	1	67	1	GPER	7	1131429	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08		1131429	158007234	303	44089											
SDK1	221935	broad.mit.edu	37	chr7	4088996	4088996	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtgcccaccgcgcccccGcagaacgtgcagacggaagc	12	17	0	2	rs146784103		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:4088996G>A	uc003smx.2	+	18	2758	c.2619G>A	c.(2617-2619)CCG>CCA	p.P873P	SDK1_uc010kso.2_Silent_p.P149P	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	873	Fibronectin type-III 3.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCGCGCCCCCGCAGAACGTGC	0.567													A	4088996	G	A	4088996	2	1	61	1	0	0	0	0	0	0	0	1	13968	1074	38	1		1	SDK1	7	4088996	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	2957567	4088996	155049667	304	44090											
TNRC18	84629	broad.mit.edu	37	chr7	5348924	5348924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaacacggcacagtcccCgatacggatcatctccttgc	10	14	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:5348924C>T	uc003soi.3	-	28	8813	c.8464G>A	c.(8464-8466)GGG>AGG	p.G2822R		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2822	BAH.						DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCACAGTCCCCGATACGGATC	0.637													T	5348924	C	T	5348924	3	4	61	1	0	0	0	0	1	0	0	0	16336	652	23	1	454	1	TNRC18	7	5348924	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1259928	5348924	153789739	305	44091											
SP8	221833	broad.mit.edu	37	chr7	20825340	20825340	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgagagggaggagggagaCgggctggggctgcctatctt	19	8	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:20825340C>T	uc003suy.2	-	3	283	c.42G>A	c.(40-42)CCG>CCA	p.P14P	SP8_uc003suz.2_Silent_p.P32P	NM_198956	NP_945194	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor isoform 2	14	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1						AGGAGGGAGACGGGCTGGGGC	0.597													T	20825340	C	T	20825340	2	4	61	1	0	0	0	0	0	0	0	1	14970	523	19	1		1	SP8	7	20825340	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	15476416	20825340	138313323	306	44092											
DNAH11	8701	broad.mit.edu	37	chr7	21609806	21609806	+	Frame_Shift_Del	DEL	A	A	-													aactcctttttcaactatagAaaaaaattggcaagctactt							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:21609805_21609805GA>G	uc003svc.3	+	6	1344	c.1313_1313GA>G	c.(1312-1314)agafs	p.R438fs		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	438	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R438T(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTCAACTATAGAAAAAAATTG	0.393									Kartagener syndrome				-	21609806	A	-	21609806	7	5	61	1	0	1	0	1	0	0	0	0	4599	243	9	0	1340	0	DNAH11	7	21609806	Frame_Shift_Del	DEL	A	TCGA-BR-8059-01A-11D-2340-08	784466	21609806	137528857	307	44093											
STK31	56164	broad.mit.edu	37	chr7	23749937	23749937	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtcactcttctagagcttcCgcaacggaaagtgtgaggtc	12	10	3	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:23749937C>G	uc003sws.3	+	1	100	c.33C>G	c.(31-33)TCC>TCG	p.S11S	STK31_uc003swt.3_5'UTR|STK31_uc011jze.1_Silent_p.S11S|STK31_uc010kuq.2_5'Flank	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	11							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						CTAGAGCTTCCGCAACGGAAA	0.557													G	23749937	C	G	23749937	2	3	61	1	0	0	0	0	0	0	0	1	15295	639	23	5		5	STK31	7	23749937	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2140131	23749937	135388726	308	44094											
HOXA10	3206	broad.mit.edu	37	chr7	27213459	27213459	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgttctgcgcgaaagagcacGaggtggcctgcggcgctggc	17	11	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:27213459G>C	uc011jzm.1	-	1	497	c.467C>G	c.(466-468)TCG>TGG	p.S156W	HOXA10_uc003syw.3_Intron	NM_018951	NP_061824	P31260	HXA10_HUMAN	homeobox A10 isoform a	156					spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GAAAGAGCACGAGGTGGCCTG	0.512													C	27213459	G	C	27213459	3	2	61	1	0	0	0	0	1	0	0	0	7289	1059	37	5	773	5	HOXA10	7	27213459	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	3463522	27213459	131925204	309	44095											
ANLN	54443	broad.mit.edu	37	chr7	36455394	36455394	+	Frame_Shift_Del	DEL	A	A	-													actgtcagagcactcccctcAaaaaacaccaaggtgtttca							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:36455393_36455393CA>C	uc003tff.3	+	7	1626	c.1422_1422CA>C	c.(1420-1422)ctcfs	p.L474fs	ANLN_uc011kaz.2_Frame_Shift_Del_p.L386fs|ANLN_uc003tfg.3_Frame_Shift_Del_p.L474fs|ANLN_uc010kxe.3_Frame_Shift_Del_p.L474fs	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	474	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCACTCCCCTCAAAAAACACC	0.338													-	36455394	A	-	36455394	7	5	61	1	0	1	0	1	0	0	0	0	694	131	5	0	1453	0	ANLN	7	36455394	Frame_Shift_Del	DEL	A	TCGA-BR-8059-01A-11D-2340-08	9241935	36455394	122683269	310	44096											
ELMO1	9844	broad.mit.edu	37	chr7	37264526	37264526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgatggtgatctcctgcGccactttctggtagaggtca	13	11	3	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:37264526G>A	uc003tfk.1	-	9	966	c.659C>T	c.(658-660)GCG>GTG	p.A220V	ELMO1_uc011kbc.1_Missense_Mutation_p.A124V|ELMO1_uc010kxg.1_Missense_Mutation_p.A220V	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	220					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						GATCTCCTGCGCCACTTTCTG	0.527													A	37264526	G	A	37264526	3	1	61	1	0	0	0	0	1	0	0	0	5065	1087	38	1	1580	1	ELMO1	7	37264526	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	809132	37264526	121874137	311	44097											
AMPH	273	broad.mit.edu	37	chr7	38424457	38424457	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagttctctggaaagaggcCtttgtaggtggcaaggtctc	14	7	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:38424457C>A	uc003tgu.2	-	21	2119	c.2050G>T	c.(2050-2052)GGC>TGC	p.G684C	AMPH_uc003tgv.2_Missense_Mutation_p.G642C|AMPH_uc003tgt.2_Missense_Mutation_p.G569C	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	684	SH3.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						GGAAAGAGGCCTTTGTAGGTG	0.483													A	38424457	C	A	38424457	3	1	61	1	0	0	0	0	1	0	0	0	588	681	24	5	41	5	AMPH	7	38424457	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1159931	38424457	120714206	312	44098											
AMPH	273	broad.mit.edu	37	chr7	38475965	38475965	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agatccagcaaagtctcctcTttcttcacctcagggacttc	6	14	5	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:38475965T>A	uc003tgu.2	-	12	1110	c.1041A>T	c.(1039-1041)AAA>AAT	p.K347N	AMPH_uc003tgv.2_Missense_Mutation_p.K347N|AMPH_uc003tgt.2_Missense_Mutation_p.K100N	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	347					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						AAGTCTCCTCTTTCTTCACCT	0.433													A	38475965	T	A	38475965	3	1	61	1	0	0	0	0	1	0	0	0	588	1606	56	5	1086	5	AMPH	7	38475965	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	51508	38475965	120662698	313	44099											
URGCP	55665	broad.mit.edu	37	chr7	43918566	43918566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaaggaataaatgtcggCagcaaggtcatcagctgggt	13	6	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:43918566C>T	uc003tiw.2	-	6	553	c.496G>A	c.(496-498)GCC>ACC	p.A166T	URGCP_uc003tiu.2_Missense_Mutation_p.A123T|URGCP_uc003tiv.2_Missense_Mutation_p.A91T|URGCP_uc003tix.2_Missense_Mutation_p.A157T|URGCP_uc003tiy.2_Missense_Mutation_p.A123T|URGCP_uc003tiz.2_Missense_Mutation_p.A123T|URGCP_uc011kbj.1_Missense_Mutation_p.A123T	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	166					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						TAAATGTCGGCAGCAAGGTCA	0.562													T	43918566	C	T	43918566	3	4	61	1	0	0	0	0	1	0	0	0	17023	710	25	2	2303	2	URGCP	7	43918566	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	5442601	43918566	115220097	314	44100											
OGDH	4967	broad.mit.edu	37	chr7	44721400	44721400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccacctcagcgacctgCcatcctacacaactcatggc	5	19	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:44721400C>T	uc003tln.2	+	10	1397	c.1288C>T	c.(1288-1290)CCA>TCA	p.P430S	OGDH_uc011kbx.1_Missense_Mutation_p.P426S|OGDH_uc011kby.1_Missense_Mutation_p.P280S|OGDH_uc003tlp.2_Missense_Mutation_p.P441S|OGDH_uc011kbz.1_Missense_Mutation_p.P225S|OGDH_uc003tlo.1_Missense_Mutation_p.P263S	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	430					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	CAGCGACCTGCCATCCTACAC	0.537													T	44721400	C	T	44721400	3	4	61	1	0	0	0	0	1	0	0	0	10839	739	26	2	1495	2	OGDH	7	44721400	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	802834	44721400	114417263	315	44101											
OGDH	4967	broad.mit.edu	37	chr7	44747228	44747229	+	Frame_Shift_Ins	INS	-	-	C													tgaaggaggtgcagaagtacINScccaatgctgagctggcctg							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:44747227_44747228A>AC	uc003tln.3	+	21	3002_3003	c.2843_2844A>AC	c.(2842-2844)tacfs	p.Y948fs	OGDH_uc011kbx.2_Frame_Shift_Ins_p.Y944fs|OGDH_uc011kby.2_Frame_Shift_Ins_p.Y798fs|OGDH_uc003tlp.3_Frame_Shift_Ins_p.Y959fs|OGDH_uc011kbz.2_Frame_Shift_Ins_p.Y743fs	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	948					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GTGCAGAAGTACCCCAATGCTG	0.564													C	44747229	-	C	44747228	7	5	61	1	0	1	1	0	0	0	0	0	10839	518	18	0	3099	0	OGDH	7	44747228	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	25828	44747228	114391435	316	44102											
GRB10	2887	broad.mit.edu	37	chr7	50742167	50742167	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcacaggctgggagcgctGcaccctctgcctcggggaca	15	14	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:50742167G>A	uc003tpi.2	-	3	359	c.328C>T	c.(328-330)CAG>TAG	p.Q110*	GRB10_uc003tph.3_Nonsense_Mutation_p.Q52*|GRB10_uc003tpj.2_Nonsense_Mutation_p.Q110*|GRB10_uc003tpk.2_Nonsense_Mutation_p.Q110*|GRB10_uc010kzb.2_Nonsense_Mutation_p.Q52*|GRB10_uc003tpl.2_Nonsense_Mutation_p.Q104*|GRB10_uc003tpm.2_Nonsense_Mutation_p.Q52*|GRB10_uc003tpn.2_Nonsense_Mutation_p.Q52*	NM_005311	NP_005302	Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10 isoform	110					insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity			lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6	Glioma(55;0.08)|all_neural(89;0.245)					TGGGAGCGCTGCACCCTCTGC	0.657									Russell-Silver_syndrome				A	50742167	G	A	50742167	4	1	61	1	0	0	0	0	0	1	0	0	6756	1328	46	2	1512	2	GRB10	7	50742167	Nonsense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	5994939	50742167	108396496	317	44103											
POM121L12	285877	broad.mit.edu	37	chr7	53104122	53104122	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttgtgatgatgcttggcCttccgtgctggtccagcccg	12	11	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:53104122C>A	uc003tpz.2	+	1	774	c.758C>A	c.(757-759)CCT>CAT	p.P253H		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	253											0						GATGCTTGGCCTTCCGTGCTG	0.637													A	53104122	C	A	53104122	3	1	61	1	0	0	0	0	1	0	0	0	12241	681	24	5	760	5	POM121L12	7	53104122	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2361955	53104122	106034541	318	44104											
PHKG1	5260	broad.mit.edu	37	chr7	56149350	56149350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccccgggggctgaagtgCcgcacttcctccaccaagta	10	16	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:56149350C>T	uc003trz.1	-	9	1086	c.891G>A	c.(889-891)CGG>CGA	p.R297R	PSPH_uc003trj.2_Intron|PHKG1_uc003try.1_Silent_p.R191R|PHKG1_uc011kdb.1_Silent_p.R329R|PHKG1_uc011kdc.1_Silent_p.R288R|PHKG1_uc011kdd.1_Silent_p.R243R	NM_006213	NP_006204	Q16816	PHKG1_HUMAN	phosphorylase kinase gamma subunit 1	297					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			large_intestine(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGCTGAAGTGCCGCACTTCCT	0.607													T	56149350	C	T	56149350	2	4	61	1	0	0	0	0	0	0	0	1	11846	726	26	2		2	PHKG1	7	56149350	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	3045228	56149350	102989313	319	44105											
TYW1	55253	broad.mit.edu	37	chr7	66563632	66563632	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtacccagagatcaacaggTttttgaagctactccaccag	8	11	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:66563632T>G	uc003tvn.2	+	12	1638	c.1489T>G	c.(1489-1491)TTT>GTT	p.F497V	TYW1_uc010lai.2_RNA|TYW1_uc011kef.1_Missense_Mutation_p.F111V	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	radical S-adenosyl methionine and flavodoxin	497					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			skin(1)	1		Lung NSC(55;0.0846)|all_lung(88;0.183)				GATCAACAGGTTTTTGAAGCT	0.478													G	66563632	T	G	66563632	3	3	61	1	0	0	0	0	1	0	0	0	16815	1725	60	5	1535	5	TYW1	7	66563632	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	10414282	66563632	92575031	320	44106											
WBSCR17	64409	broad.mit.edu	37	chr7	70886093	70886093	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccttctctccccatcaggTctgtggctggtgagcctggc	11	15	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:70886093T>C	uc003tvy.2	+	5	962	c.962_splice	c.e5+2	p.R321_splice	WBSCR17_uc003tvz.2_Splice_Site_p.R20_splice	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide							Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCCCATCAGGTCTGTGGCTGG	0.612													C	70886093	T	C	70886093	5	2	61	1	0	0	0	0	0	0	1	0	17261	1681	58	3	982	3	WBSCR17	7	70886093	Splice_Site	SNP	T	TCGA-BR-8059-01A-11D-2340-08	4322461	70886093	88252570	321	44107											
TBL2	26608	broad.mit.edu	37	chr7	72985158	72985158	+	Frame_Shift_Del	DEL	G	G	-													aaggccaagacctgggcgttGggggagagggccaggcggca							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:72985157_72985157TG>T	uc003tyh.3	-	6	1158	c.1024_1024CA>A	c.(1024-1026)aacfs	p.N342fs	TBL2_uc011kex.2_Frame_Shift_Del_p.N306fs|TBL2_uc010lbg.3_Frame_Shift_Del_p.N247fs|TBL2_uc003tyi.3_Frame_Shift_Del_p.N177fs|TBL2_uc011key.2_Frame_Shift_Del_p.N213fs	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.	342										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACCTGGGCGTTGGGGGAGAGG	0.617													-	72985158	G	-	72985158	7	5	61	1	0	1	0	1	0	0	0	0	15639	1335	47	0	324	0	TBL2	7	72985158	Frame_Shift_Del	DEL	G	TCGA-BR-8059-01A-11D-2340-08	2099065	72985158	86153505	322	44108											
RSBN1L	222194	broad.mit.edu	37	chr7	77407902	77407902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgaggagggaaggcattcGctatgccaggattcagctat	13	8	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:77407902G>A	uc010ldt.1	+	8	2002	c.1958G>A	c.(1957-1959)CGC>CAC	p.R653H	RSBN1L_uc003ugm.2_Missense_Mutation_p.R435H	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	653						nucleus				ovary(1)	1						GAAGGCATTCGCTATGCCAGG	0.348													A	77407902	G	A	77407902	3	1	61	1	0	0	0	0	1	0	0	0	13697	1087	38	1	1988	1	RSBN1L	7	77407902	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	4422744	77407902	81730761	323	44109											
PHTF2	57157	broad.mit.edu	37	chr7	77579112	77579112	+	Frame_Shift_Del	DEL	A	A	-													cccttggatcagaaacaagtAaaaaatatagtaatacctca							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:77579112delA	uc003ugs.3	+	16	2203	c.2077delA	c.(2077-2079)AAAfs	p.K693fs	PHTF2_uc003ugq.3_Frame_Shift_Del_p.K655fs|PHTF2_uc010ldv.2_Intron|PHTF2_uc003ugt.3_Frame_Shift_Del_p.K659fs|PHTF2_uc003ugu.3_Frame_Shift_Del_p.K655fs	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	693					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1						AGAAACAAGTAAAAAATATAG	0.323													-	77579112	A	-	77579112	7	5	61	1	0	1	0	1	0	0	0	0	11863	363	13	0	2087	0	PHTF2	7	77579112	Frame_Shift_Del	DEL	A	TCGA-BR-8059-01A-11D-2340-08	171210	77579112	81559551	324	44110											
PCLO	27445	broad.mit.edu	37	chr7	82579563	82579563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtggcatcttcgtcatcCgtttgtacaccactgtccac	7	14	3	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:82579563C>T	uc003uhx.2	-	6	10630	c.10341G>A	c.(10339-10341)ACG>ACA	p.T3447T	PCLO_uc003uhv.2_Silent_p.T3447T|PCLO_uc010lec.2_Silent_p.T412T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3378					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTTCGTCATCCGTTTGTACAC	0.438													T	82579563	C	T	82579563	2	4	61	1	0	0	0	0	0	0	0	1	11583	639	23	1		1	PCLO	7	82579563	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	5000451	82579563	76559100	325	44111											
PCLO	27445	broad.mit.edu	37	chr7	82585300	82585300	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctcctcctccagtaactaCaagttcttcactttcctgac	3	17	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:82585300C>G	uc003uhx.2	-	5	5258	c.4969G>C	c.(4969-4971)GTA>CTA	p.V1657L	PCLO_uc003uhv.2_Missense_Mutation_p.V1657L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1588					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CCAGTAACTACAAGTTCTTCA	0.388													G	82585300	C	G	82585300	3	3	61	1	0	0	0	0	1	0	0	0	11583	478	17	5	10560	5	PCLO	7	82585300	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	5737	82585300	76553363	326	44112											
ZNF804B	219578	broad.mit.edu	37	chr7	88963842	88963842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactaaaagagagagccaaGtctcaggtttaactgaagac	10	7	1	5			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:88963842G>A	uc011khi.1	+	4	2084	c.1546G>A	c.(1546-1548)GTC>ATC	p.V516I		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	516						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGAGAGCCAAGTCTCAGGTTT	0.383										HNSCC(36;0.09)			A	88963842	G	A	88963842	3	1	61	1	0	0	0	0	1	0	0	0	18168	1029	36	4	1560	4	ZNF804B	7	88963842	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	6378542	88963842	70174821	327	44113											
FZD1	8321	broad.mit.edu	37	chr7	90896031	90896031	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtaccttatgacgctgatCgtgggcatcacgtcgggctt	12	10	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:90896031C>T	uc003ula.2	+	1	2249	c.1836C>T	c.(1834-1836)ATC>ATT	p.I612I		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	612	Helical; Name=7; (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGACGCTGATCGTGGGCATCA	0.612													T	90896031	C	T	90896031	2	4	61	1	0	0	0	0	0	0	0	1	6128	874	31	1		1	FZD1	7	90896031	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1932189	90896031	68242632	328	44114											
AKAP9	10142	broad.mit.edu	37	chr7	91622286	91622286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgatggaaagtgagttgGctgggaagcagcatgagatt	16	3	0	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:91622286G>A	uc003ulg.2	+	5	718	c.493G>A	c.(493-495)GCT>ACT	p.A165T	AKAP9_uc003uld.3_Missense_Mutation_p.A165T|AKAP9_uc003ule.2_Missense_Mutation_p.A177T|AKAP9_uc003ulf.2_Missense_Mutation_p.A165T	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	177	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAGTGAGTTGGCTGGGAAGCA	0.423			T	BRAF	papillary thyroid								A	91622286	G	A	91622286	3	1	61	1	0	0	0	0	1	0	0	0	459	1203	42	2	511	2	AKAP9	7	91622286	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	726255	91622286	67516377	329	44115											
CALCR	799	broad.mit.edu	37	chr7	93055791	93055791	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaattgggatgtcgccagcCtccgcagcagcggctgcagc	13	13	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:93055791C>A	uc003umv.1	-	15	1665	c.1404G>T	c.(1402-1404)GAG>GAT	p.E468D	CALCR_uc011kia.1_Missense_Mutation_p.E248D|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.E434D|CALCR_uc003umw.2_Missense_Mutation_p.E434D	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor isoform 2 precursor	450	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TGTCGCCAGCCTCCGCAGCAG	0.577													A	93055791	C	A	93055791	3	1	61	1	0	0	0	0	1	0	0	0	2579	680	24	5	126	5	CALCR	7	93055791	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1433505	93055791	66082872	330	44116											
SLC25A13	10165	broad.mit.edu	37	chr7	95814300	95814309	+	Frame_Shift_Del	DEL	TCGAGCTGAA	TCGAGCTGAA	-													gcaacttgtagaagaactggTcgagctgaatcacctgaggc							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:95814299_95814308GTCGAGCTGAA>G	uc003uog.4	-	9	1143_1152	c.952_961TTCAGCTCGAC>C	c.(952-963)tcagctcgaccafs	p.S318fs	SLC25A13_uc003uof.4_Frame_Shift_Del_p.S317fs|SLC25A13_uc011kik.2_Frame_Shift_Del_p.S209fs	NM_001160210	NP_001153682	Q9UJS0	CMC2_HUMAN	Homo sapiens solute carrier family 25, member 13 (citrin) (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	317					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	AGAAGAACTGGTCGAGCTGAATCACCTGAG	0.414													-	95814309	TCGAGCTGAA	-	95814300	7	5	61	1	0	1	0	1	0	0	0	0	14475	1654	58	0	1106	0	SLC25A13	7	95814300	Frame_Shift_Del	DEL	TCGAGCTGAA	TCGA-BR-8059-01A-11D-2340-08	2758509	95814300	63324363	331	44117											
TECPR1	25851	broad.mit.edu	37	chr7	97862264	97862265	+	Frame_Shift_Del	DEL	TG	TG	-													cgtgatggacagggacagcaTgtgtaccgaggaggacaggc							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:97862263_97862264ATG>A	uc003upg.3	-	11	1898_1899	c.1693_1694CAT>T	c.(1693-1695)atgfs	p.M565fs	TECPR1_uc003uph.1_Frame_Shift_Del_p.M495fs	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	565						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGGGACAGCATGTGTACCGAG	0.663													-	97862265	TG	-	97862264	7	5	61	1	0	1	0	1	0	0	0	0	15740	1464	51	0	1864	0	TECPR1	7	97862264	Frame_Shift_Del	DEL	TG	TCGA-BR-8059-01A-11D-2340-08	2047964	97862264	61276399	332	44118											
TRRAP	8295	broad.mit.edu	37	chr7	98609072	98609072	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gactcacgcccaacatttctGagtttctgaccaccatcggg	8	14	3	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:98609072G>T	uc003upp.2	+	71	11418	c.11209G>T	c.(11209-11211)GAG>TAG	p.E3737*	TRRAP_uc011kis.1_Nonsense_Mutation_p.E3708*|TRRAP_uc003upr.2_Nonsense_Mutation_p.E3443*|TRRAP_uc003ups.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3737	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAACATTTCTGAGTTTCTGAC	0.552													T	98609072	G	T	98609072	4	4	61	1	0	0	0	0	0	1	0	0	16598	1291	45	5	11396	5	TRRAP	7	98609072	Nonsense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	746808	98609072	60529591	333	44119											
PTCD1	26024	broad.mit.edu	37	chr7	99023071	99023071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggctgtcctccttggccGctgcctgctcactgggggct	14	15	1	0	rs150731740		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:99023071G>A	uc003uqh.2	-	6	1215	c.1084C>T	c.(1084-1086)CGG>TGG	p.R362W	PTCD1_uc011kiw.1_Missense_Mutation_p.R411W	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	362										ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCTTGGCCGCTGCCTGCTC	0.647													A	99023071	G	A	99023071	3	1	61	1	0	0	0	0	1	0	0	0	12727	1086	38	1	1030	1	PTCD1	7	99023071	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	413999	99023071	60115592	334	44120											
ZAN	7455	broad.mit.edu	37	chr7	100395212	100395212	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cttctagagagaaaacgcagGagggagacagactggccagg	15	8	1	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:100395212G>T	uc003uwj.2	+	48	8545	c.8380G>T	c.(8380-8382)GAG>TAG	p.E2794*	ZAN_uc003uwk.2_Nonsense_Mutation_p.E2703*|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Nonsense_Mutation_p.E743*	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	2794	VWFC 5.|Cytoplasmic (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GAAAACGCAGGAGGGAGACAG	0.602													T	100395212	G	T	100395212	4	4	61	1	0	0	0	0	0	1	0	0	17510	1175	41	5	8626	5	ZAN	7	100395212	Nonsense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1372141	100395212	58743451	335	44121											
EPHB4	2050	broad.mit.edu	37	chr7	100417826	100417826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgacgcggcactggcagaCggctgatccaatggtgttag	14	12	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:100417826C>T	uc003uwn.1	-	5	1392	c.901G>A	c.(901-903)GTC>ATC	p.V301I	EPHB4_uc003uwm.1_Missense_Mutation_p.V208I|EPHB4_uc010lhj.1_Missense_Mutation_p.V301I|EPHB4_uc011kkf.1_Missense_Mutation_p.V301I|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Missense_Mutation_p.V301I	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	301	Extracellular (Potential).|Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					CACTGGCAGACGGCTGATCCA	0.637													T	100417826	C	T	100417826	3	4	61	1	0	0	0	0	1	0	0	0	5177	536	19	1	2114	1	EPHB4	7	100417826	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	22614	100417826	58720837	336	44122											
TRIP6	7205	broad.mit.edu	37	chr7	100469250	100469250	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaaggcctaccaccctggctGcttcacctgcgtggtgtgtc	12	14	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:100469250G>C	uc003uww.2	+	7	1255	c.1085G>C	c.(1084-1086)TGC>TCC	p.C362S		NM_003302	NP_003293	Q15654	TRIP6_HUMAN	thyroid receptor-interacting protein 6	362	LIM zinc-binding 2.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					CACCCTGGCTGCTTCACCTGC	0.622													C	100469250	G	C	100469250	3	2	61	1	0	0	0	0	1	0	0	0	16556	1319	46	5	1111	5	TRIP6	7	100469250	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	51424	100469250	58669413	337	44123											
MUC17	140453	broad.mit.edu	37	chr7	100677233	100677233	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctactgaagtcagttcaTctcctacacctgctgaaggt	7	12	4	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:100677233T>C	uc003uxp.1	+	3	2589	c.2536T>C	c.(2536-2538)TCT>CCT	p.S846P	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	846	Extracellular (Potential).|12.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTCAGTTCATCTCCTACACC	0.502													C	100677233	T	C	100677233	3	2	61	1	0	0	0	0	1	0	0	0	9974	1435	50	3	2546	3	MUC17	7	100677233	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	207983	100677233	58461430	338	44124											
CDHR3	222256	broad.mit.edu	37	chr7	105615467	105615467	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgaagcttttagggtgaAttggctgtcaggcacctact	11	9	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:105615467A>G	uc003vdl.3	+	2	332	c.224A>G	c.(223-225)AAT>AGT	p.N75S	CDHR3_uc003vdk.2_5'UTR|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Missense_Mutation_p.N62S|CDHR3_uc011klt.1_Intron	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	75	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						TTTAGGGTGAATTGGCTGTCA	0.458													G	105615467	A	G	105615467	3	3	61	1	0	0	0	0	1	0	0	0	3120	101	4	3	230	3	CDHR3	7	105615467	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	4938234	105615467	53523196	339	44125											
PRKAR2B	5577	broad.mit.edu	37	chr7	106786831	106786831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataatcgtgggagtttcggCgaactggccttaatgtacaa	12	7	0	0	rs146903153	byFrequency	TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:106786831C>T	uc003vdx.2	+	6	841	c.666C>T	c.(664-666)GGC>GGT	p.G222G		NM_002736	NP_002727	P31323	KAP3_HUMAN	cAMP-dependent protein kinase, regulatory	222	cAMP 1.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1						GGAGTTTCGGCGAACTGGCCT	0.428													T	106786831	C	T	106786831	2	4	61	1	0	0	0	0	0	0	0	1	12506	755	27	1		1	PRKAR2B	7	106786831	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1171364	106786831	52351832	340	44126											
COG5	10466	broad.mit.edu	37	chr7	106924081	106924081	+	Frame_Shift_Del	DEL	A	A	-													ggattacgaccacccgggggAaaaaccaagttgataggatc							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:106924080_106924080GA>G	uc003vec.2	-	12	2029	c.1504_1504TC>C	c.(1504-1506)cccfs	p.P502fs	COG5_uc003ved.2_Frame_Shift_Del_p.P502fs|COG5_uc003vee.2_Frame_Shift_Del_p.P502fs	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA.	502					intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CCACCCGGGGGAAAAACCAAG	0.398													-	106924081	A	-	106924081	7	5	61	1	0	1	0	1	0	0	0	0	3661	243	9	0	1123	0	COG5	7	106924081	Frame_Shift_Del	DEL	A	TCGA-BR-8059-01A-11D-2340-08	137250	106924081	52214582	341	44127											
FEZF1	389549	broad.mit.edu	37	chr7	121943889	121943889	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccgggaccaccagtttattCctttcggctaaatacgtttt	8	11	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:121943889C>T	uc003vkd.2	-	1	677	c.603G>A	c.(601-603)AGG>AGA	p.R201R	FEZF1_uc003vkc.2_Silent_p.R151R|uc010lko.1_RNA|uc003vkf.1_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1 isoform 1	201					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3						CCAGTTTATTCCTTTCGGCTA	0.567													T	121943889	C	T	121943889	2	4	61	1	0	0	0	0	0	0	0	1	5825	854	30	4		4	FEZF1	7	121943889	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	15019808	121943889	37194774	342	44128											
TAS2R16	50833	broad.mit.edu	37	chr7	122635598	122635616	+	Frame_Shift_Del	DEL	CTGCAACAATTAGGCTGCT	CTGCAACAATTAGGCTGCT	-													cagccattctctgcccagcaCtgcaacaattaggctgctct							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:122635597_122635615ACTGCAACAATTAGGCTGCT>A	uc003vkl.1	-	0	140_158	c.74_92AGCAGCCTAATTGTTGCAGT>T	c.(73-93)agcagcctaattgttgcagtgfs	p.S25fs		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	25					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCTGCCCAGCACTGCAACAATTAGGCTGCTCTGCACAAT	0.475													-	122635616	CTGCAACAATTAGGCTGCT	-	122635598	7	5	61	1	0	1	0	1	0	0	0	0	15566	565	20	0	788	0	TAS2R16	7	122635598	Frame_Shift_Del	DEL	CTGCAACAATTAGGCTGCT	TCGA-BR-8059-01A-11D-2340-08	691709	122635598	36503065	343	44129											
GRM8	2918	broad.mit.edu	37	chr7	126746611	126746611	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatagttcccctcagaAgccagtgtcgaaacataatt	6	12	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:126746611A>C	uc003vlr.2	-	2	977	c.666T>G	c.(664-666)GCT>GCG	p.A222A	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.A222A|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_5'UTR	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	222	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCCCCTCAGAAGCCAGTGTCG	0.493										HNSCC(24;0.065)			C	126746611	A	C	126746611	2	2	61	1	0	0	0	0	0	0	0	1	6803	59	3	5		5	GRM8	7	126746611	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	4111013	126746611	32392052	344	44130											
LRRC4	64101	broad.mit.edu	37	chr7	127668913	127668913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgggcagcactactgccCcctcacctgatacaccggac	9	16	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:127668913C>T	uc003vmk.2	-	2	1918	c.1781G>A	c.(1780-1782)GGG>GAG	p.G594E	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	594	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		CACTACTGCCCCCTCACCTGA	0.458													T	127668913	C	T	127668913	3	4	61	1	0	0	0	0	1	0	0	0	8997	623	22	4	184	4	LRRC4	7	127668913	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	922302	127668913	31469750	345	44131											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138732366	138732366	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatcacgcaggctttgtcttCagtatattcaatcacatatt	5	9	5	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:138732366C>T	uc003vun.2	-	13	3071	c.2683G>A	c.(2683-2685)GAA>AAA	p.E895K		NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	zinc finger antiviral protein isoform 1	895	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1						GCTTTGTCTTCAGTATATTCA	0.428													T	138732366	C	T	138732366	3	4	61	1	0	0	0	0	1	0	0	0	17572	835	29	4	29	4	ZC3HAV1	7	138732366	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	11063453	138732366	20406297	346	44132											
BRAF	673	broad.mit.edu	37	chr7	140434413	140434413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttcagtggacaggaaacGcaccatatccccctgcctgg	10	13	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:140434413G>A	uc003vwc.3	-	18	2346	c.2285C>T	c.(2284-2286)GCG>GTG	p.A762V		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	762					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	GACAGGAAACGCACCATATCC	0.403		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				A	140434413	G	A	140434413	3	1	61	1	0	0	0	0	1	0	0	0	1496	1087	38	1	19	1	BRAF	7	140434413	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1702047	140434413	18704250	347	44133											
GIMAP4	55303	broad.mit.edu	37	chr7	150269275	150269275	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtgttagtgggtaaaacCggagcaggaaaaagtgcaac	13	5	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:150269275C>T	uc003whl.2	+	3	199	c.117C>T	c.(115-117)ACC>ACT	p.T39T	GIMAP4_uc011kuu.1_5'UTR|GIMAP4_uc011kuv.1_Silent_p.T53T	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	39	GTP (Potential).						GTP binding	p.T39T(1)		ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGTAAAACCGGAGCAGGAA	0.448													T	150269275	C	T	150269275	2	4	61	1	0	0	0	0	0	0	0	1	6381	639	23	1		1	GIMAP4	7	150269275	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	9834862	150269275	8869388	348	44134											
GIMAP6	474344	broad.mit.edu	37	chr7	150325008	150325008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgtaataatctccttcGttttcccacataatggcttc	5	11	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:150325008G>A	uc003whn.2	-	3	1102	c.678C>T	c.(676-678)AAC>AAT	p.N226N	GIMAP6_uc003whm.2_Silent_p.N146N	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	226							GTP binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AATCTCCTTCGTTTTCCCACA	0.517													A	150325008	G	A	150325008	2	1	61	1	0	0	0	0	0	0	0	1	6383	1136	40	1		1	GIMAP6	7	150325008	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	55733	150325008	8813655	349	44135											
ABP1	26	broad.mit.edu	37	chr7	150554028	150554035	+	Frame_Shift_Del	DEL	AAGCCACC	AAGCCACC	-													cctctaccacaccctgcaggAagccaccaagcccctgcatc							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr7:150554027_150554034GAAGCCACC>G	uc003why.1	+	2	4687_4694	c.469_476GAAGCCACC>G	c.(469-477)gaagccaccfs	p.E157fs	ABP1_uc003whz.1_Frame_Shift_Del_p.E157fs|ABP1_uc003wia.1_Frame_Shift_Del_p.E157fs	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	157					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CACCCTGCAGGAAGCCACCAAGCCCCTG	0.606													-	150554035	AAGCCACC	-	150554028	7	5	61	1	0	1	0	1	0	0	0	0	98	246	9	0	472	0	ABP1	7	150554028	Frame_Shift_Del	DEL	AAGCCACC	TCGA-BR-8059-01A-11D-2340-08	229020	150554028	8584635	350	44136											
MYOM2	9172	broad.mit.edu	37	chr8	2092844	2092844	+	Frame_Shift_Del	DEL	C	C	-													ggagaagatcccggacatggCcccgccccagcaagccaagc					rs151252256	byFrequency	TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:2092843_2092843GC>G	uc003wpx.4	+	36	4474	c.4336_4336GC>G	c.(4336-4338)gccfs	p.A1446fs	MYOM2_uc011kwi.2_Frame_Shift_Del_p.A871fs	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1446					muscle contraction	myosin filament	structural constituent of muscle	p.A1446V(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCCGGACATGGCCCCGCCCCA	0.572													-	2092844	C	-	2092844	7	5	61	1	0	1	0	1	0	0	0	0	10092	739	26	0	4479	0	MYOM2	8	2092844	Frame_Shift_Del	DEL	C	TCGA-BR-8059-01A-11D-2340-08		2092844	144271178	351	44137											
EFHA2	286097	broad.mit.edu	37	chr8	16962959	16962959	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaacagaagttctagaaataGaattcctttcctactcaaat	4	8	2	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:16962959G>C	uc003wxd.2	+	11	1165	c.1123G>C	c.(1123-1125)GAA>CAA	p.E375Q		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	375						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		TCTAGAAATAGAATTCCTTTC	0.294													C	16962959	G	C	16962959	3	2	61	1	0	0	0	0	1	0	0	0	4944	943	33	5	1165	5	EFHA2	8	16962959	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	14870115	16962959	129401063	352	44138											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19362795	19362795	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtctccaaggctgattcaAtggcttccaccaactcatcc	8	14	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:19362795A>C	uc011kyn.1	-	4	1615	c.551T>G	c.(550-552)ATT>AGT	p.I184S	CSGALNACT1_uc011kyo.1_Missense_Mutation_p.I184S|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.I183S|CSGALNACT1_uc003wzh.2_RNA	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate	184	Lumenal (Potential).				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)		GGCTGATTCAATGGCTTCCAC	0.522													C	19362795	A	C	19362795	3	2	61	1	0	0	0	0	1	0	0	0	3938	101	4	5	1075	5	CSGALNACT1	8	19362795	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	2399836	19362795	127001227	353	44139											
LPL	4023	broad.mit.edu	37	chr8	19809439	19809439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgggacaggatgtggccCggtttatcaactggatggag	17	6	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:19809439C>T	uc003wzk.3	+	3	779	c.409C>T	c.(409-411)CGG>TGG	p.R137W		NM_000237	NP_000228	P06858	LIPL_HUMAN	lipoprotein lipase precursor	137					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	GGATGTGGCCCGGTTTATCAA	0.522													T	19809439	C	T	19809439	3	4	61	1	0	0	0	0	1	0	0	0	8921	643	23	1	419	1	LPL	8	19809439	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	446644	19809439	126554583	354	44140											
NEFM	4741	broad.mit.edu	37	chr8	24774700	24774700	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaacccaaggtggaagctccCaagcttaaggtccaacacaa	8	12	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:24774700C>G	uc003xed.3	+	3	1365	c.1332C>G	c.(1330-1332)CCC>CCG	p.P444P	NEFM_uc011lac.1_Silent_p.P444P|NEFM_uc010lue.2_Silent_p.P68P	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	444	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TGGAAGCTCCCAAGCTTAAGG	0.468													G	24774700	C	G	24774700	2	3	61	1	0	0	0	0	0	0	0	1	10316	581	21	5		5	NEFM	8	24774700	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	4965261	24774700	121589322	355	44141											
TACC1	6867	broad.mit.edu	37	chr8	38688659	38688659	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaggcatagagaaggagacGtgccagaagatggaagaaga	15	4	0	6			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:38688659G>A	uc010lwp.2	+	6	2056	c.1677G>A	c.(1675-1677)ACG>ACA	p.T559T	TACC1_uc011lby.1_Silent_p.T364T|TACC1_uc003xma.2_Translation_Start_Site|TACC1_uc003xlz.2_Silent_p.T364T|TACC1_uc003xmc.3_Silent_p.T363T|TACC1_uc011lbz.1_Silent_p.T546T|TACC1_uc003xmb.3_Silent_p.T485T|TACC1_uc003xme.1_Silent_p.T133T|TACC1_uc003xmd.1_Silent_p.T121T|TACC1_uc010lwo.1_Silent_p.T92T|TACC1_uc003xmf.3_Silent_p.T149T|TACC1_uc011lca.1_Silent_p.T542T|TACC1_uc011lcb.1_Silent_p.T335T|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Silent_p.T376T|TACC1_uc010lwq.2_Silent_p.T376T	NM_006283	NP_006274	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing	559					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			ovary(1)	1		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			AGAAGGAGACGTGCCAGAAGA	0.478													A	38688659	G	A	38688659	2	1	61	1	0	0	0	0	0	0	0	1	15498	1132	40	1		1	TACC1	8	38688659	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	13913959	38688659	107675363	356	44142											
ADAM2	2515	broad.mit.edu	37	chr8	39613289	39613289	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttttatccacatcttTtggctgtctgcatgatcact	5	12	4	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:39613289T>A	uc003xnj.2	-	16	1830	c.1755A>T	c.(1753-1755)CAA>CAT	p.Q585H	ADAM2_uc003xnk.2_Missense_Mutation_p.Q566H|ADAM2_uc011lck.1_Intron|ADAM2_uc003xnl.2_Missense_Mutation_p.Q429H	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	585	Extracellular (Potential).|Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCCACATCTTTTGGCTGTCTG	0.338													A	39613289	T	A	39613289	3	1	61	1	0	0	0	0	1	0	0	0	241	1838	64	5	472	5	ADAM2	8	39613289	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	924630	39613289	106750733	357	44143											
PRKDC	5591	broad.mit.edu	37	chr8	48701571	48701571	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgttttttttatttacagGggtttttgctagttcagctc	8	5	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:48701571G>T	uc003xqi.2	-	77	10855	c.10798C>A	c.(10798-10800)CCT>ACT	p.P3600T	PRKDC_uc003xqj.2_Missense_Mutation_p.P3600T|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3600					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TTATTTACAGGGGTTTTTGCT	0.378								NHEJ					T	48701571	G	T	48701571	3	4	61	1	0	0	0	0	1	0	0	0	12521	1232	43	5	1632	5	PRKDC	8	48701571	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	9088282	48701571	97662451	358	44144											
CHD7	55636	broad.mit.edu	37	chr8	61654080	61654080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcggagaatgtggttaccCggaaaatccagtaaatccta	9	10	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:61654080C>T	uc003xue.2	+	2	566	c.89C>T	c.(88-90)CCG>CTG	p.P30L		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	30					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGTGGTTACCCGGAAAATCCA	0.438													T	61654080	C	T	61654080	3	4	61	1	0	0	0	0	1	0	0	0	3330	652	23	1	91	1	CHD7	8	61654080	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	12952509	61654080	84709942	359	44145											
CYP7B1	9420	broad.mit.edu	37	chr8	65528708	65528708	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcattcatgtcatgattTttttgcaactgactgatgct	6	8	4	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:65528708T>G	uc003xvj.2	-	3	594	c.390A>C	c.(388-390)AAA>AAC	p.K130N		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	130					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGTCATGATTTTTTTGCAACT	0.328													G	65528708	T	G	65528708	3	3	61	1	0	0	0	0	1	0	0	0	4197	1838	64	5	1146	5	CYP7B1	8	65528708	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	3874628	65528708	80835314	360	44146											
TRIM55	84675	broad.mit.edu	37	chr8	67066483	67066483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctgaggattcgaatgtaCggaaggcagaagtggcagca	15	6	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:67066483C>T	uc003xvv.2	+	9	1664	c.1438C>T	c.(1438-1440)CGG>TGG	p.R480W	TRIM55_uc003xvu.2_Missense_Mutation_p.R480W|TRIM55_uc003xvw.2_Intron|TRIM55_uc003xvx.2_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	480						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TTCGAATGTACGGAAGGCAGA	0.567													T	67066483	C	T	67066483	3	4	61	1	0	0	0	0	1	0	0	0	16526	527	19	1	1472	1	TRIM55	8	67066483	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1537775	67066483	79297539	361	44147											
C8orf34	116328	broad.mit.edu	37	chr8	69728125	69728125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttttgttgtgcaggttcCgctgatcttcttctttgcgt	9	9	4	1	rs145199497	byFrequency	TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:69728125C>T	uc010lyz.2	+	13	1345	c.1296C>T	c.(1294-1296)TCC>TCT	p.S432S	C8orf34_uc003xyb.2_Silent_p.S407S	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	432					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GTGCAGGTTCCGCTGATCTTC	0.443													T	69728125	C	T	69728125	2	4	61	1	0	0	0	0	0	0	0	1	2422	639	23	1		1	C8orf34	8	69728125	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2661642	69728125	76635897	362	44148											
ZFHX4	79776	broad.mit.edu	37	chr8	77765876	77765876	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tactgactaccagcttagggTtctgcaagacttttttgaca	8	9	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:77765876T>G	uc003yav.2	+	10	6971	c.6584T>G	c.(6583-6585)GTT>GGT	p.V2195G	ZFHX4_uc003yau.1_Missense_Mutation_p.V2240G|ZFHX4_uc003yaw.1_Missense_Mutation_p.V2195G	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2195	Homeobox 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCTTAGGGTTCTGCAAGAC	0.403										HNSCC(33;0.089)			G	77765876	T	G	77765876	3	3	61	1	0	0	0	0	1	0	0	0	17632	1725	60	5	6753	5	ZFHX4	8	77765876	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	8037751	77765876	68598146	363	44149											
CA13	377677	broad.mit.edu	37	chr8	86163053	86163053	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaaccaaagaagtgaaatAtgactcttccctccgaccac	5	12	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:86163053A>G	uc003ydg.2	+	2	464	c.122A>G	c.(121-123)TAT>TGT	p.Y41C	CA13_uc003ydf.1_RNA	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	41					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0						GAAGTGAAATATGACTCTTCC	0.398													G	86163053	A	G	86163053	3	3	61	1	0	0	0	0	1	0	0	0	2514	449	16	3	128	3	CA13	8	86163053	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	8397177	86163053	60200969	364	44150											
TMEM67	91147	broad.mit.edu	37	chr8	94805495	94805495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacagcaggatggaagaggCgcattgggagtcccatgatt	15	7	0	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:94805495C>T	uc011lgk.1	+	16	1716	c.1645C>T	c.(1645-1647)CGC>TGC	p.R549C	TMEM67_uc010maw.2_Missense_Mutation_p.R255C|TMEM67_uc003yga.3_Missense_Mutation_p.R468C|TMEM67_uc011lgl.1_5'Flank	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	549					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			ovary(2)	2	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			ATGGAAGAGGCGCATTGGGAG	0.368													T	94805495	C	T	94805495	3	4	61	1	0	0	0	0	1	0	0	0	16193	768	27	1	1845	1	TMEM67	8	94805495	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	8642442	94805495	51558527	365	44151											
PGCP	10404	broad.mit.edu	37	chr8	98155373	98155373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgggctgttgtttcttatGttgttgcagacatggaagaa	12	4	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:98155373G>A	uc003yhw.2	+	8	1547	c.1381G>A	c.(1381-1383)GTT>ATT	p.V461I		NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	plasma glutamate carboxypeptidase precursor	461					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity			upper_aerodigestive_tract(1)	1	Breast(36;1.86e-05)					TGTTTCTTATGTTGTTGCAGA	0.453													A	98155373	G	A	98155373	3	1	61	1	0	0	0	0	1	0	0	0	11786	1377	48	4	1407	4	PGCP	8	98155373	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	3349878	98155373	48208649	366	44152											
C8orf47	203111	broad.mit.edu	37	chr8	99101668	99101668	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggagcagggacagaggccgaGtctctaaaaggaaatgctga	15	7	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:99101668G>C	uc003yih.1	+	2	571	c.423G>C	c.(421-423)GAG>GAC	p.E141D		NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	hypothetical protein LOC203111	141											0	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			CAGAGGCCGAGTCTCTAAAAG	0.557													C	99101668	G	C	99101668	3	2	61	1	0	0	0	0	1	0	0	0	2432	1020	36	5	429	5	C8orf47	8	99101668	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	946295	99101668	47262354	367	44153											
POP1	10940	broad.mit.edu	37	chr8	99168468	99168468	+	Frame_Shift_Del	DEL	A	A	-													tgccttgtgctcccatgcctAaaaaaactcatcagccatct							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:99168467_99168467TA>T	uc003yij.4	+	14	2347	c.2247_2247TA>T	c.(2245-2247)cctfs	p.P749fs	POP1_uc011lgv.2_Frame_Shift_Del_p.P749fs|POP1_uc003yik.3_Frame_Shift_Del_p.P749fs	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	749					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CTCCCATGCCTAAAAAAACTC	0.507													-	99168468	A	-	99168468	7	5	61	1	0	1	0	1	0	0	0	0	12251	363	13	0	2302	0	POP1	8	99168468	Frame_Shift_Del	DEL	A	TCGA-BR-8059-01A-11D-2340-08	66800	99168468	47195554	368	44154											
VPS13B	157680	broad.mit.edu	37	chr8	100520118	100520118	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcaggaccctttcagtaaTtgctctggcttctttccttc	7	12	3	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:100520118T>C	uc003yiv.2	+	28	4389	c.4278T>C	c.(4276-4278)AAT>AAC	p.N1426N	VPS13B_uc003yiw.2_Intron|VPS13B_uc003yiu.1_3'UTR|VPS13B_uc003yix.1_Silent_p.N896N	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1426					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTTTCAGTAATTGCTCTGGCT	0.438													C	100520118	T	C	100520118	2	2	61	1	0	0	0	0	0	0	0	1	17187	1490	52	3		3	VPS13B	8	100520118	Silent	SNP	T	TCGA-BR-8059-01A-11D-2340-08	1351650	100520118	45843904	369	44155											
VPS13B	157680	broad.mit.edu	37	chr8	100844880	100844880	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaatggattctgtaccaGgtattttatgtttatataaa	8	3	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:100844880G>T	uc003yiv.2	+	52	9800	c.9689G>T	c.(9688-9690)AGG>ATG	p.R3230M	VPS13B_uc003yiw.2_Missense_Mutation_p.R3205M	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3230					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCTGTACCAGGTATTTTATG	0.458													T	100844880	G	T	100844880	3	4	61	1	0	0	0	0	1	0	0	0	17187	1014	35	5	10085	5	VPS13B	8	100844880	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	324762	100844880	45519142	370	44156											
VPS13B	157680	broad.mit.edu	37	chr8	100847793	100847794	+	Frame_Shift_Ins	INS	-	-	A													aaagtttgaggtttattgcaINSaaaaaattccctccgagtgc							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:100847792_100847793C>CA	uc003yiv.3	+	53	9954_9955	c.9843_9844C>CA	c.(9841-9846)tgcaaafs	p.C3281fs	VPS13B_uc003yiw.3_Frame_Shift_Ins_p.C3256fs	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3281					protein transport			p.K3282T(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGGTTTATTGCAAAAAAATTCC	0.386													A	100847794	-	A	100847793	7	5	61	1	0	1	1	0	0	0	0	0	17187	131	5	0	10248	0	VPS13B	8	100847793	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	2913	100847793	45516229	371	44157											
RGS22	26166	broad.mit.edu	37	chr8	101075945	101075945	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaacaatcatcaaatgacaCttttgttatattgttgaagt	5	5	2	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:101075945C>A	uc003yjb.1	-	8	1246	c.1051G>T	c.(1051-1053)GTG>TTG	p.V351L	RGS22_uc003yja.1_Missense_Mutation_p.V170L|RGS22_uc003yjc.1_Missense_Mutation_p.V339L|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	351					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCAAATGACACTTTTGTTATA	0.328													A	101075945	C	A	101075945	3	1	61	1	0	0	0	0	1	0	0	0	13305	565	20	5	2823	5	RGS22	8	101075945	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	228152	101075945	45288077	372	44158											
PKHD1L1	93035	broad.mit.edu	37	chr8	110456117	110456117	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacatggctttagtaatctcCcatgggctaataaggtaaga	10	7	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:110456117C>A	uc003yne.2	+	37	4881	c.4777C>A	c.(4777-4779)CCA>ACA	p.P1593T		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1593	Extracellular (Potential).|IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TAGTAATCTCCCATGGGCTAA	0.308										HNSCC(38;0.096)			A	110456117	C	A	110456117	3	1	61	1	0	0	0	0	1	0	0	0	11972	623	22	5	4923	5	PKHD1L1	8	110456117	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	9380172	110456117	35907905	373	44159											
PKHD1L1	93035	broad.mit.edu	37	chr8	110478991	110478991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggatgtggttctttcagaCtcttttggtaagtggaatat	11	4	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:110478991C>T	uc003yne.2	+	50	8702	c.8598C>T	c.(8596-8598)GAC>GAT	p.D2866D		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2866	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTCTTTCAGACTCTTTTGGTA	0.368										HNSCC(38;0.096)			T	110478991	C	T	110478991	2	4	61	1	0	0	0	0	0	0	0	1	11972	564	20	4		4	PKHD1L1	8	110478991	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	22874	110478991	35885031	374	44160											
CSMD3	114788	broad.mit.edu	37	chr8	113304872	113304872	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgagaatgttaccacatcAttaaagttgaacccatttcc	5	10	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:113304872A>G	uc003ynu.2	-	55	8841	c.8682T>C	c.(8680-8682)AAT>AAC	p.N2894N	CSMD3_uc003yns.2_Silent_p.N2096N|CSMD3_uc003ynt.2_Silent_p.N2854N|CSMD3_uc011lhx.1_Silent_p.N2725N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2894	Extracellular (Potential).|Sushi 19.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TTACCACATCATTAAAGTTGA	0.463										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113304872	A	G	113304872	2	3	61	1	0	0	0	0	0	0	0	1	3946	214	8	3		3	CSMD3	8	113304872	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	2825881	113304872	33059150	375	44161											
ATAD2	29028	broad.mit.edu	37	chr8	124371527	124371532	+	In_Frame_Del	DEL	TTTAGA	TTTAGA	-													atggaaacaccaccatctctTttagagctgctatatgatta							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:124371526_124371531TTTTAGA>T	uc003yqh.4	-	10	1420_1425	c.1312_1317TCTAAAA>A	c.(1312-1317)ctaaaa>A	p.LK438del	ATAD2_uc011lii.2_In_Frame_Del_p.LK229del|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_In_Frame_Del_p.LK438del	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CCACCATCTCTTTTAGAGCTGCTATA	0.32													-	124371532	TTTAGA	-	124371527	7	5	61	1	0	1	0	1	0	0	0	0	1071	1841	64	0	2928	0	ATAD2	8	124371527	In_Frame_Del	DEL	TTTAGA	TCGA-BR-8059-01A-11D-2340-08	11066655	124371527	21992495	376	44162											
ATAD2	29028	broad.mit.edu	37	chr8	124371882	124371882	+	Frame_Shift_Del	DEL	A	A	-													aattttcattcgatctttatAaatgccttttaattcatctt							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:124371881_124371881TA>T	uc003yqh.4	-	9	1310	c.1202_1202TA>A	c.(1201-1203)tatfs	p.Y401fs	ATAD2_uc011lii.2_Frame_Shift_Del_p.Y192fs|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Frame_Shift_Del_p.Y401fs	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCGATCTTTATAAATGCCTTT	0.363													-	124371882	A	-	124371882	7	5	61	1	0	1	0	1	0	0	0	0	1071	362	13	0	3047	0	ATAD2	8	124371882	Frame_Shift_Del	DEL	A	TCGA-BR-8059-01A-11D-2340-08	355	124371882	21992140	377	44163											
ADCY8	114	broad.mit.edu	37	chr8	132051889	132051889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtgtccttcctgaccaCcaccagggcgcagatcacta	11	14	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:132051889C>T	uc003ytd.3	-	1	947	c.691G>A	c.(691-693)GTG>ATG	p.V231M	ADCY8_uc010mds.2_Missense_Mutation_p.V231M	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	231	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTCCTGACCACCACCAGGGCG	0.642										HNSCC(32;0.087)			T	132051889	C	T	132051889	3	4	61	1	0	0	0	0	1	0	0	0	300	507	18	4	3136	4	ADCY8	8	132051889	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	7680007	132051889	14312133	378	44164											
PHF20L1	51105	broad.mit.edu	37	chr8	133849991	133849991	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgttggcaacacagcgtgtGcatggggctgctggaggaga	18	7	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:133849991G>T	uc003ytt.2	+	17	2451	c.2126G>T	c.(2125-2127)TGC>TTC	p.C709F	PHF20L1_uc011lja.1_Missense_Mutation_p.C683F	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	709	PHD-type.						nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CACAGCGTGTGCATGGGGCTG	0.512													T	133849991	G	T	133849991	3	4	61	1	0	0	0	0	1	0	0	0	11832	1319	46	5	2284	5	PHF20L1	8	133849991	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1798102	133849991	12514031	379	44165											
TG	7038	broad.mit.edu	37	chr8	133895150	133895150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaatggcgactatcaggcGgtgcagtgccagacggaagg	16	9	1	1	rs146255464	byFrequency	TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:133895150G>A	uc003ytw.2	+	8	1022	c.981G>A	c.(979-981)GCG>GCA	p.A327A		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	327	Thyroglobulin type-1 4.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACTATCAGGCGGTGCAGTGCC	0.597													A	133895150	G	A	133895150	2	1	61	1	0	0	0	0	0	0	0	1	15810	1103	39	1		1	TG	8	133895150	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	45159	133895150	12468872	380	44166											
GPR20	2843	broad.mit.edu	37	chr8	142367096	142367096	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccgtgctggccgaagaggcCtcggacggtggcctggaagc	17	12	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr8:142367096C>A	uc003ywf.2	-	2	1017	c.928G>T	c.(928-930)GGC>TGC	p.G310C		NM_005293	NP_005284	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	310	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			upper_aerodigestive_tract(1)	1	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CCGAAGAGGCCTCGGACGGTG	0.642													A	142367096	C	A	142367096	3	1	61	1	0	0	0	0	1	0	0	0	6680	681	24	5	152	5	GPR20	8	142367096	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	8471946	142367096	3996926	381	44167											
SLC1A1	6505	broad.mit.edu	37	chr9	4576621	4576621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgaagaaaataaccaggtgGacaagaggatcactcgattc	10	8	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr9:4576621G>A	uc003zij.1	+	10	1287	c.1051G>A	c.(1051-1053)GAC>AAC	p.D351N	C9orf68_uc003zik.2_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	solute carrier family 1, member 1	351					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	TAACCAGGTGGACAAGAGGAT	0.463													A	4576621	G	A	4576621	3	1	61	1	0	0	0	0	1	0	0	0	14431	1174	41	4	1089	4	SLC1A1	9	4576621	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08		4576621	136636810	382	44168											
ERMP1	79956	broad.mit.edu	37	chr9	5787567	5787567	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttgaccctttgtgggctcGaacatagaaggacatatggc	12	8	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr9:5787567G>A	uc003zjm.1	-	14	2467	c.2413C>T	c.(2413-2415)CGA>TGA	p.R805*	ERMP1_uc011lme.1_RNA|ERMP1_uc010mhs.1_Nonsense_Mutation_p.R419*	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	aminopeptidase Fxna	805	Extracellular (Potential).				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			ovary(1)	1		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		TTGTGGGCTCGAACATAGAAG	0.418													A	5787567	G	A	5787567	4	1	61	1	0	0	0	0	0	1	0	0	5236	1066	37	1	309	1	ERMP1	9	5787567	Nonsense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1210946	5787567	135425864	383	44169											
SLC24A2	25769	broad.mit.edu	37	chr9	19785935	19785935	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaatccaccaccaccaacCtttgcttgggcttctggtgc	7	14	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr9:19785935C>A	uc003zoa.1	-	1	992	c.930G>T	c.(928-930)AAG>AAT	p.K310N	SLC24A2_uc003zob.1_Missense_Mutation_p.K310N	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	310	Cytoplasmic (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CACCACCAACCTTTGCTTGGG	0.393													A	19785935	C	A	19785935	3	1	61	1	0	0	0	0	1	0	0	0	14466	695	24	5	1095	5	SLC24A2	9	19785935	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	13998368	19785935	121427496	384	44170											
KIAA1797	54914	broad.mit.edu	37	chr9	20944775	20944775	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcagaacgtttcaggaggTaagagatggaggctacattt	14	5	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr9:20944775T>C	uc003zog.1	+	31	3918	c.3555_splice	c.e31+2	p.E1185_splice	KIAA1797_uc003zoh.1_Splice_Site_p.E621_splice	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914							integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		TTTCAGGAGGTAAGAGATGGA	0.463													C	20944775	T	C	20944775	5	2	61	1	0	0	0	0	0	0	1	0	8258	1652	57	3	3667	3	KIAA1797	9	20944775	Splice_Site	SNP	T	TCGA-BR-8059-01A-11D-2340-08	1158840	20944775	120268656	385	44171											
IFNA7	3444	broad.mit.edu	37	chr9	21201782	21201782	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaggggagtctcttccaccCcaacctcctgtatcacacat	6	16	3	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr9:21201782C>A	uc003zop.1	-	1	423	c.383G>T	c.(382-384)GGG>GTG	p.G128V	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	interferon, alpha 7 precursor	128					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding				0				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTCTTCCACCCCAACCTCCTG	0.453													A	21201782	C	A	21201782	3	1	61	1	0	0	0	0	1	0	0	0	7542	623	22	5	190	5	IFNA7	9	21201782	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	257007	21201782	120011649	386	44172											
UNC13B	10497	broad.mit.edu	37	chr9	35382496	35382496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcgctttgcagcctccAactttggggtaagtatcatg	10	10	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr9:35382496A>G	uc003zwq.2	+	20	2843	c.2551A>G	c.(2551-2553)AAC>GAC	p.N851D	UNC13B_uc003zwr.2_Missense_Mutation_p.N851D	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	851					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGCAGCCTCCAACTTTGGGGT	0.363													G	35382496	A	G	35382496	3	3	61	1	0	0	0	0	1	0	0	0	16982	130	5	3	2629	3	UNC13B	9	35382496	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	14180714	35382496	105830935	387	44173											
NPR2	4882	broad.mit.edu	37	chr9	35808513	35808513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctctcaatcaggtggagaCgattggggatgcttacatgg	13	9	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr9:35808513C>T	uc003zyd.2	+	19	2720	c.2720C>T	c.(2719-2721)ACG>ATG	p.T907M	NPR2_uc010mlb.2_Missense_Mutation_p.T883M|SPAG8_uc003zye.2_Intron	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	907	Guanylate cyclase.|Cytoplasmic (Potential).				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			ovary(2)|stomach(1)	3	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CAGGTGGAGACGATTGGGGAT	0.478													T	35808513	C	T	35808513	3	4	61	1	0	0	0	0	1	0	0	0	10595	536	19	1	2794	1	NPR2	9	35808513	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	426017	35808513	105404918	388	44174											
SMC5	23137	broad.mit.edu	37	chr9	72961550	72961552	+	In_Frame_Del	DEL	CTC	CTC	-													accattccaaatggacacaaCtcctcactccccatggtatg							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr9:72961549_72961551ACTC>A	uc004ahr.2	+	18	2669_2671	c.2552_2554ACTC>A	c.(2551-2556)aactcc>aAcc	p.S853del	SMC5_uc011lry.1_5'UTR	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA.	853					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						AATGGACACAACTCCTCACTCCC	0.463													-	72961552	CTC	-	72961550	7	5	61	1	0	1	0	1	0	0	0	0	14786	564	20	0	2627	0	SMC5	9	72961550	In_Frame_Del	DEL	CTC	TCGA-BR-8059-01A-11D-2340-08	37153037	72961550	68251881	389	44175											
PCSK5	5125	broad.mit.edu	37	chr9	78686713	78686713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagcttcaacccccagcacGtgcacatttacagcgccagc	7	16	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr9:78686713G>A	uc004ajz.2	+	7	1331	c.793G>A	c.(793-795)GTG>ATG	p.V265M	PCSK5_uc004ajy.2_Missense_Mutation_p.V265M|PCSK5_uc004aka.2_RNA	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	265	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3						CCCCCAGCACGTGCACATTTA	0.542													A	78686713	G	A	78686713	3	1	61	1	0	0	0	0	1	0	0	0	11603	1145	40	1	819	1	PCSK5	9	78686713	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	5725163	78686713	62526718	390	44176											
PRUNE2	158471	broad.mit.edu	37	chr9	79322985	79322985	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagacccctcctcatacTctaaaacttcctctggttcc	4	15	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr9:79322985T>C	uc010mpk.2	-	8	4329	c.4205A>G	c.(4204-4206)GAG>GGG	p.E1402G		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1402					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						CTCCTCATACTCTAAAACTTC	0.453													C	79322985	T	C	79322985	3	2	61	1	0	0	0	0	1	0	0	0	12641	1551	54	3	5109	3	PRUNE2	9	79322985	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	636272	79322985	61890446	391	44177											
AGTPBP1	23287	broad.mit.edu	37	chr9	88200433	88200433	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcattatcattggtatgcCacactgtctctttgatgctg	8	9	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr9:88200433C>T	uc011ltd.1	-	22	3143	c.3110G>A	c.(3109-3111)TGG>TAG	p.W1037*	AGTPBP1_uc004aod.3_Nonsense_Mutation_p.W663*|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Nonsense_Mutation_p.W997*|AGTPBP1_uc011lte.1_Nonsense_Mutation_p.W1049*	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1037					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						ATTGGTATGCCACACTGTCTC	0.328													T	88200433	C	T	88200433	4	4	61	1	0	0	0	0	0	1	0	0	400	595	21	4	586	4	AGTPBP1	9	88200433	Nonsense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	8877448	88200433	53012998	392	44178											
DAPK1	1612	broad.mit.edu	37	chr9	90321379	90321379	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtatggtggcgtgcgcatCgtgcccgtggaacacctcac	14	12	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr9:90321379C>T	uc004apc.2	+	26	3531	c.3393C>T	c.(3391-3393)ATC>ATT	p.I1131I	DAPK1_uc004apd.2_Silent_p.I1131I|DAPK1_uc011ltg.1_Silent_p.I1065I|DAPK1_uc011lth.1_Silent_p.I868I|DAPK1_uc004apg.2_Silent_p.I108I	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1131					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						GCGTGCGCATCGTGCCCGTGG	0.612									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				T	90321379	C	T	90321379	2	4	61	1	0	0	0	0	0	0	0	1	4235	874	31	1		1	DAPK1	9	90321379	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2120946	90321379	50892052	393	44179											
NR4A3	8013	broad.mit.edu	37	chr9	102590532	102590532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggctactcgagcaactacGaactcaagccttcctgcgtg	10	13	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr9:102590532G>A	uc004baf.1	+	3	937	c.208G>A	c.(208-210)GAA>AAA	p.E70K	NR4A3_uc004bae.2_Missense_Mutation_p.E70K|NR4A3_uc004bag.1_Missense_Mutation_p.E70K|NR4A3_uc004bai.2_Missense_Mutation_p.E81K	NM_006981	NP_008912	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	70					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		EWSR1/NR4A3(140)|TAF15/NR4A3(33)	bone(173)	173		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GAGCAACTACGAACTCAAGCC	0.517			T	EWSR1	extraskeletal myxoid chondrosarcoma								A	102590532	G	A	102590532	3	1	61	1	0	0	0	0	1	0	0	0	10634	1059	37	1	247	1	NR4A3	9	102590532	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	12269153	102590532	38622899	394	44180											
EPB41L4B	54566	broad.mit.edu	37	chr9	111956584	111956584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggggacggcagcggcacGgagacttgtgtggcggccgt	20	9	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr9:111956584G>A	uc004bdz.1	-	21	2434	c.2139C>T	c.(2137-2139)TCC>TCT	p.S713S		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	713						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						GCAGCGGCACGGAGACTTGTG	0.612													A	111956584	G	A	111956584	2	1	61	1	0	0	0	0	0	0	0	1	5156	1103	39	1		1	EPB41L4B	9	111956584	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	9366052	111956584	29256847	395	44181											
SVEP1	79987	broad.mit.edu	37	chr9	113221306	113221306	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaggccaggcagaaggccTtccctgcattaggttggtaa	13	10	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr9:113221306T>G	uc010mtz.2	-	19	3747	c.3410A>C	c.(3409-3411)AAG>ACG	p.K1137T	SVEP1_uc010mua.1_Missense_Mutation_p.K1137T	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1137					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GCAGAAGGCCTTCCCTGCATT	0.463													G	113221306	T	G	113221306	3	3	61	1	0	0	0	0	1	0	0	0	15417	1609	56	5	7425	5	SVEP1	9	113221306	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	1264722	113221306	27992125	396	44182											
TRUB2	26995	broad.mit.edu	37	chr9	131071975	131071975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgaggggtagcagcccGgatagcatcctggatgttgg	15	9	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr9:131071975G>A	uc004buq.1	-	8	860	c.850C>T	c.(850-852)CGG>TGG	p.R284W		NM_015679	NP_056494	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase homolog 2	284					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			ovary(1)	1						GTAGCAGCCCGGATAGCATCC	0.637													A	131071975	G	A	131071975	3	1	61	1	0	0	0	0	1	0	0	0	16600	1115	39	1	149	1	TRUB2	9	131071975	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	17850669	131071975	10141456	397	44183											
SLC27A4	10999	broad.mit.edu	37	chr9	131117771	131117771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgagaacgtgtccaccacCgaggtggaaggcacactcag	14	11	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr9:131117771C>T	uc004but.2	+	11	1841	c.1557C>T	c.(1555-1557)ACC>ACT	p.T519T	SLC27A4_uc004buu.2_Silent_p.T113T	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	519					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0						TGTCCACCACCGAGGTGGAAG	0.622													T	131117771	C	T	131117771	2	4	61	1	0	0	0	0	0	0	0	1	14528	639	23	1		1	SLC27A4	9	131117771	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	45796	131117771	10095660	398	44184											
FUBP3	8939	broad.mit.edu	37	chr9	133506105	133506105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagcgaccccaacctgcGgagattcaccatcagggggg	12	14	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr9:133506105G>A	uc004bzr.1	+	13	1316	c.1208G>A	c.(1207-1209)CGG>CAG	p.R403Q	FUBP3_uc004bzs.1_Missense_Mutation_p.R316Q	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	403	KH 4.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CCCAACCTGCGGAGATTCACC	0.602													A	133506105	G	A	133506105	3	1	61	1	0	0	0	0	1	0	0	0	6093	1116	39	1	1258	1	FUBP3	9	133506105	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	2388334	133506105	7707326	399	44185											
GTF3C5	9328	broad.mit.edu	37	chr9	135929863	135929863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actacagcctccccatcaccGtcaagaagacatgtaagcgt	7	14	2	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr9:135929863G>A	uc004cci.3	+	7	1394	c.1057G>A	c.(1057-1059)GTC>ATC	p.V353I	GTF3C5_uc010mzz.2_Missense_Mutation_p.V228I|GTF3C5_uc004ccj.3_Missense_Mutation_p.V353I	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	353						transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		CCCCATCACCGTCAAGAAGAC	0.612													A	135929863	G	A	135929863	3	1	61	1	0	0	0	0	1	0	0	0	6876	1145	40	1	1083	1	GTF3C5	9	135929863	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	2423758	135929863	5283568	400	44186											
ADAMTSL2	9719	broad.mit.edu	37	chr9	136402618	136402618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtggacggcgtgttcccGcagttgcgggggtggggtga	20	8	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr9:136402618G>A	uc011mdl.1	+	3	739	c.182G>A	c.(181-183)CGC>CAC	p.R61H	ADAMTSL2_uc004cei.2_Missense_Mutation_p.R61H	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN	ADAMTS-like 2 precursor	61	TSP type-1 1.				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GCGTGTTCCCGCAGTTGCGGG	0.672													A	136402618	G	A	136402618	3	1	61	1	0	0	0	0	1	0	0	0	275	1087	38	1	188	1	ADAMTSL2	9	136402618	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	472755	136402618	4810813	401	44187											
SARDH	1757	broad.mit.edu	37	chr9	136573487	136573487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgacggagtagttcttggcGtaggactcatggcttcgctc	13	10	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr9:136573487G>A	uc004cep.3	-	11	1526	c.1392C>T	c.(1390-1392)TAC>TAT	p.Y464Y	SARDH_uc004ceo.2_Silent_p.Y464Y|SARDH_uc011mdn.1_Silent_p.Y464Y|SARDH_uc011mdo.1_Silent_p.Y296Y	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	464					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		AGTTCTTGGCGTAGGACTCAT	0.652													A	136573487	G	A	136573487	2	1	61	1	0	0	0	0	0	0	0	1	13841	1140	40	1		1	SARDH	9	136573487	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	170869	136573487	4639944	402	44188											
GLT6D1	360203	broad.mit.edu	37	chr9	138516492	138516492	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatttgcggagtgtaggaaCggcctcaggtactcctctgc	12	10	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr9:138516492C>T	uc010nbd.1	-	5	536	c.282G>A	c.(280-282)CCG>CCA	p.P94P		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	94	Lumenal (Potential).				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			ovary(1)	1		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		AGTGTAGGAACGGCCTCAGGT	0.393													T	138516492	C	T	138516492	2	4	61	1	0	0	0	0	0	0	0	1	6468	523	19	1		1	GLT6D1	9	138516492	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1943005	138516492	2696939	403	44189											
PHPT1	29085	broad.mit.edu	37	chr9	139743963	139743963	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtatgtgctgatccgagtCcactcggctccccgctccgg	11	15	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr9:139743963C>T	uc004cjp.2	+	2	703	c.81C>T	c.(79-81)GTC>GTT	p.V27V	PHPT1_uc011mei.1_Silent_p.V27V|PHPT1_uc004cjq.3_Silent_p.V27V|MAMDC4_uc004cjs.2_5'Flank|MAMDC4_uc011mej.1_5'Flank	NM_014172	NP_054891	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1 isoform 3	27				V -> I (in Ref. 4; CAB66579).		cytosol	phosphohistidine phosphatase activity|phosphoprotein phosphatase activity				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TGATCCGAGTCCACTCGGCTC	0.652													T	139743963	C	T	139743963	2	4	61	1	0	0	0	0	0	0	0	1	11860	842	30	4		4	PHPT1	9	139743963	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1227471	139743963	1469468	404	44190											
CACNA1B	774	broad.mit.edu	37	chr9	141016353	141016353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccagtctcaccctctcCgccgcgtgcccaacggttac	7	21	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr9:141016353C>T	uc004cog.2	+	46	7067	c.6922C>T	c.(6922-6924)CGC>TGC	p.R2308C	CACNA1B_uc004coi.2_Missense_Mutation_p.R1520C	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	2308	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.R2308H(1)		breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCACCCTCTCCGCCGCGTGCC	0.642													T	141016353	C	T	141016353	3	4	61	1	0	0	0	0	1	0	0	0	2539	652	23	1	7104	1	CACNA1B	9	141016353	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1272390	141016353	197078	405	44191											
SFMBT2	57713	broad.mit.edu	37	chr10	7214605	7214605	+	Frame_Shift_Del	DEL	C	C	-													ggggcttggagatcttctttCtctttccatagtaataggct							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:7214604_7214604TC>T	uc009xio.2	-	17	2095	c.2004_2004GA>A	c.(2002-2004)agafs	p.R668fs	SFMBT2_uc001ijn.2_Frame_Shift_Del_p.R668fs|SFMBT2_uc010qay.2_Frame_Shift_Del_p.R503fs	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	668					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						AGATCTTCTTTCTCTTTCCAT	0.507													-	7214605	C	-	7214605	7	5	61	1	0	1	0	1	0	0	0	0	14158	913	32	0	697	0	SFMBT2	10	7214605	Frame_Shift_Del	DEL	C	TCGA-BR-8059-01A-11D-2340-08		7214605	128320142	406	44192											
UPF2	26019	broad.mit.edu	37	chr10	12001356	12001356	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttctcatcatttgctcCtgaaataaaaagtccaaatt	3	9	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:12001356C>T	uc001ila.2	-	11	2659	c.2185_splice	c.e11-1	p.E729_splice	UPF2_uc001ilb.2_Splice_Site_p.E729_splice|UPF2_uc001ilc.2_Splice_Site_p.E729_splice|UPF2_uc009xiz.1_Splice_Site_p.E729_splice	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog						mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				TCATTTGCTCCTGAAATAAAA	0.363													T	12001356	C	T	12001356	5	4	61	1	0	0	0	0	0	0	1	0	17001	695	24	4	1678	4	UPF2	10	12001356	Splice_Site	SNP	C	TCGA-BR-8059-01A-11D-2340-08	4786751	12001356	123533391	407	44193											
DCLRE1C	64421	broad.mit.edu	37	chr10	14951067	14951067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggtgaagtacagagccCagatctccttgcagtgaagc	12	10	1	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:14951067C>T	uc001inn.2	-	14	1504	c.1419G>A	c.(1417-1419)CTG>CTA	p.L473L	DCLRE1C_uc010qbx.1_Intron|DCLRE1C_uc001ink.2_Silent_p.L126L|DCLRE1C_uc001inl.2_Silent_p.L353L|DCLRE1C_uc009xji.2_Silent_p.L358L|DCLRE1C_uc001inm.2_Silent_p.L353L|DCLRE1C_uc001ino.2_Silent_p.L358L|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Silent_p.L353L|DCLRE1C_uc001inq.2_Silent_p.L353L|DCLRE1C_uc001inr.2_Silent_p.L358L	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	artemis protein isoform a	473					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)	1						GTACAGAGCCCAGATCTCCTT	0.423								Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ					T	14951067	C	T	14951067	2	4	61	1	0	0	0	0	0	0	0	1	4296	581	21	4		4	DCLRE1C	10	14951067	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2949711	14951067	120583680	408	44194											
ST8SIA6	338596	broad.mit.edu	37	chr10	17363149	17363149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctttagttctccagaaaaGggccagatctttcaggtact	8	10	3	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:17363149G>A	uc001ipd.2	-	8	925	c.925C>T	c.(925-927)CTT>TTT	p.L309F	ST8SIA6_uc010qce.1_RNA	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide	309	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(1)	1						CTCCAGAAAAGGGCCAGATCT	0.443													A	17363149	G	A	17363149	3	1	61	1	0	0	0	0	1	0	0	0	15235	1000	35	4	275	4	ST8SIA6	10	17363149	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	2412082	17363149	118171598	409	44195											
MLLT10	8028	broad.mit.edu	37	chr10	21959610	21959610	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaatccaggaacaactgtgtCagcagctagcccttttcctc	7	13	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:21959610C>G	uc001iqs.2	+	10	1376	c.1028C>G	c.(1027-1029)TCA>TGA	p.S343*	MLLT10_uc001iqt.2_Nonsense_Mutation_p.S343*|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Nonsense_Mutation_p.S343*|MLLT10_uc001ira.2_5'UTR|MLLT10_uc001irb.2_5'Flank|MLLT10_uc001iqz.2_Nonsense_Mutation_p.S98*	NM_004641	NP_004632	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	343	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(1)|skin(1)	2						ACAACTGTGTCAGCAGCTAGC	0.398			T	MLL|PICALM|CDK6	AL								G	21959610	C	G	21959610	4	3	61	1	0	0	0	0	0	1	0	0	9626	838	29	5	1062	5	MLLT10	10	21959610	Nonsense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	4596461	21959610	113575137	410	44196											
MYO3A	53904	broad.mit.edu	37	chr10	26385597	26385597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaatgtttcaaagtcataGgttttacaatggaggtaagt	10	4	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:26385597G>A	uc001isn.2	+	17	2122	c.1762G>A	c.(1762-1764)GGT>AGT	p.G588S	MYO3A_uc009xko.1_Missense_Mutation_p.G588S|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.G588S	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	588	Myosin head-like.				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						CAAAGTCATAGGTTTTACAAT	0.274													A	26385597	G	A	26385597	3	1	61	1	0	0	0	0	1	0	0	0	10076	1000	35	4	1820	4	MYO3A	10	26385597	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	4425987	26385597	109149150	411	44197											
MASTL	84930	broad.mit.edu	37	chr10	27459272	27459272	+	Frame_Shift_Del	DEL	A	A	-													gtaaaaaaattatacagaatAaaaaaacttgtgtagagtat							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:27459271_27459271TA>T	uc001itm.3	+	7	1986	c.1383_1383TA>T	c.(1381-1383)aatfs	p.N461fs	MASTL_uc001itl.3_Frame_Shift_Del_p.N461fs|MASTL_uc009xkw.2_Frame_Shift_Del_p.N461fs|MASTL_uc009xkx.2_Non-coding_Transcript	NM_001172303	NP_001165774	Q96GX5	GWL_HUMAN	Homo sapiens microtubule associated serine/threonine kinase-like (MASTL), transcript variant 1, mRNA.	461	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTATACAGAATAAAAAAACTT	0.333													-	27459272	A	-	27459272	7	5	61	1	0	1	0	1	0	0	0	0	9328	363	13	0	1414	0	MASTL	10	27459272	Frame_Shift_Del	DEL	A	TCGA-BR-8059-01A-11D-2340-08	1073675	27459272	108075475	412	44198											
ARMC4	55130	broad.mit.edu	37	chr10	28196696	28196696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaacgaactccatctaagcGatcaattatcctatcgtgga	6	11	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:28196696G>A	uc009xky.2	-	17	2604	c.2506C>T	c.(2506-2508)CGC>TGC	p.R836C	ARMC4_uc010qds.1_Missense_Mutation_p.R361C|ARMC4_uc010qdt.1_Missense_Mutation_p.R528C|ARMC4_uc001itz.2_Missense_Mutation_p.R836C	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	836	ARM 6.						binding			ovary(4)|skin(2)	6						CCATCTAAGCGATCAATTATC	0.403													A	28196696	G	A	28196696	3	1	61	1	0	0	0	0	1	0	0	0	953	1058	37	1	644	1	ARMC4	10	28196696	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	737424	28196696	107338051	413	44199											
PPYR1	5540	broad.mit.edu	37	chr10	47087134	47087134	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaccctctgcaagatgtcGgccttcatccagtgcatgtc	10	13	2	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:47087134G>A	uc001jee.2	+	3	770	c.351G>A	c.(349-351)TCG>TCA	p.S117S	ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.S117S	NM_005972	NP_005963	P50391	NPY4R_HUMAN	pancreatic polypeptide receptor 1	117	Helical; Name=3; (Potential).				blood circulation|digestion|feeding behavior	integral to plasma membrane				ovary(1)|skin(1)	2						GCAAGATGTCGGCCTTCATCC	0.582													A	47087134	G	A	47087134	2	1	61	1	0	0	0	0	0	0	0	1	12416	1103	39	1		1	PPYR1	10	47087134	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	18890438	47087134	88447613	414	44200											
FRMPD2	143162	broad.mit.edu	37	chr10	49447648	49447648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttaggccttgctgcttacCggttaacaaggaggctgcag	12	10	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:49447648C>T	uc001jgi.2	-	7	895	c.788G>A	c.(787-789)CGC>CAC	p.R263H	FRMPD2_uc001jgh.2_Missense_Mutation_p.R232H|FRMPD2_uc001jgj.2_Missense_Mutation_p.R241H	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	263					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		TGCTGCTTACCGGTTAACAAG	0.488													T	49447648	C	T	49447648	3	4	61	1	0	0	0	0	1	0	0	0	6058	666	23	1	3233	1	FRMPD2	10	49447648	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2360514	49447648	86087099	415	44201											
MAPK8	5599	broad.mit.edu	37	chr10	49609720	49609720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatgagcagaagcaagcGtgacaacaatttttatagtg	9	7	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:49609720G>A	uc009xnz.2	+	2	241	c.17G>A	c.(16-18)CGT>CAT	p.R6H	MAPK8_uc001jgl.2_Missense_Mutation_p.R6H|MAPK8_uc001jgm.2_Missense_Mutation_p.R6H|MAPK8_uc001jgo.2_Missense_Mutation_p.R6H|MAPK8_uc009xoa.2_Missense_Mutation_p.R6H|MAPK8_uc001jgn.2_Missense_Mutation_p.R6H|MAPK8_uc010qgk.1_Missense_Mutation_p.R6H|MAPK8_uc001jgp.2_Missense_Mutation_p.R6H|MAPK8_uc001jgq.2_Missense_Mutation_p.R6H	NM_139047	NP_620635	P45983	MK08_HUMAN	mitogen-activated protein kinase 8 isoform JNK1	6					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		AGAAGCAAGCGTGACAACAAT	0.358													A	49609720	G	A	49609720	3	1	61	1	0	0	0	0	1	0	0	0	9283	1145	40	1	19	1	MAPK8	10	49609720	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	162072	49609720	85925027	416	44202											
CHAT	1103	broad.mit.edu	37	chr10	50872965	50872965	+	Missense_Mutation	SNP	T	T	G													agagacttcttctagcaagtTtgcaaaagctgtggaagaaa							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:50872965T>G	uc001jhz.2	+	15	2273	c.2120T>G	c.(2119-2121)TTT>TGT	p.F707C	CHAT_uc001jhv.1_Missense_Mutation_p.F589C|CHAT_uc001jhx.1_Missense_Mutation_p.F589C|CHAT_uc001jhy.1_Missense_Mutation_p.F589C|CHAT_uc001jia.2_Missense_Mutation_p.F589C|CHAT_uc010qgs.1_Intron	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	707					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TCTAGCAAGTTTGCAAAAGCT	0.502													G	50872965	T	G	50872965	3	3	61	1	0	0	0	0	1	0	0	0	3313	1841	64	5	2222	5	CHAT	10	50872965	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	1263245	50872965	84661782	417	44203	155	2									
CHAT	1103	broad.mit.edu	37	chr10	50872972	50872972	+	Silent	SNP	A	A	G													tcttctagcaagtttgcaaaAgctgtggaagaaagcctcat					rs145995632		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:50872972A>G	uc001jhz.2	+	15	2280	c.2127A>G	c.(2125-2127)AAA>AAG	p.K709K	CHAT_uc001jhv.1_Silent_p.K591K|CHAT_uc001jhx.1_Silent_p.K591K|CHAT_uc001jhy.1_Silent_p.K591K|CHAT_uc001jia.2_Silent_p.K591K|CHAT_uc010qgs.1_Intron	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	709					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	AGTTTGCAAAAGCTGTGGAAG	0.507													G	50872972	A	G	50872972	2	3	61	1	0	0	0	0	0	0	0	1	3313	69	3	3		3	CHAT	10	50872972	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	7	50872972	84661775	418	44204	155	2									
PCDH15	65217	broad.mit.edu	37	chr10	55566740	55566740	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttctcaccacagaaccatTctgtgcaatatatatattgc	6	10	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:55566740T>C	uc010qhq.1	-	36	5043	c.4648A>G	c.(4648-4650)AAT>GAT	p.N1550D	PCDH15_uc010qhr.1_Missense_Mutation_p.N1545D	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD3-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				ACAGAACCATTCTGTGCAATA	0.473										HNSCC(58;0.16)			C	55566740	T	C	55566740	3	2	61	1	0	0	0	0	1	0	0	0	11511	1783	62	3	404	3	PCDH15	10	55566740	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	4693768	55566740	79968007	419	44205											
ZWINT	11130	broad.mit.edu	37	chr10	58118615	58118615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcttcaggtttccaaGtttctgaaacaccctgtcaa	7	12	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:58118615G>A	uc001jjx.1	-	6	611	c.574C>T	c.(574-576)CTT>TTT	p.L192F	ZWINT_uc001jjy.1_Intron|ZWINT_uc001jka.1_Missense_Mutation_p.L192F|ZWINT_uc009xoy.1_RNA	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	192	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						AGGTTTCCAAGTTTCTGAAAC	0.552													A	58118615	G	A	58118615	3	1	61	1	0	0	0	0	1	0	0	0	18246	1029	36	4	271	4	ZWINT	10	58118615	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	2551875	58118615	77416132	420	44206											
FAM13C	220965	broad.mit.edu	37	chr10	61043178	61043178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgatgctggcgccgggtcCttgactccatgcacctgagc	13	13	0	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:61043178C>A	uc001jkn.2	-	7	671	c.537G>T	c.(535-537)AAG>AAT	p.K179N	FAM13C_uc001jko.2_Missense_Mutation_p.K179N|FAM13C_uc010qid.1_Missense_Mutation_p.K96N|FAM13C_uc010qie.1_Missense_Mutation_p.K96N|FAM13C_uc010qif.1_Missense_Mutation_p.K201N|FAM13C_uc001jkp.2_Missense_Mutation_p.K96N	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	179										ovary(2)	2						GCGCCGGGTCCTTGACTCCAT	0.532													A	61043178	C	A	61043178	3	1	61	1	0	0	0	0	1	0	0	0	5454	680	24	5	1256	5	FAM13C	10	61043178	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2924563	61043178	74491569	421	44207											
HKDC1	80201	broad.mit.edu	37	chr10	71008477	71008477	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgtctgcgggctgccggaCggcacaggtgggccagcaca	16	13	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:71008477C>T	uc001jpf.3	+	10	1696	c.1563C>T	c.(1561-1563)GAC>GAT	p.D521D	HKDC1_uc010qje.1_Silent_p.D384D	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	521					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5						GGCTGCCGGACGGCACAGGTG	0.597													T	71008477	C	T	71008477	2	4	61	1	0	0	0	0	0	0	0	1	7193	535	19	1		1	HKDC1	10	71008477	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	9965299	71008477	64526270	422	44208											
HKDC1	80201	broad.mit.edu	37	chr10	71010409	71010409	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcagatgagcattgacaagGtaagatagccccaccaggct	12	10	0	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:71010409G>T	uc001jpf.3	+	12	1969	c.1836_splice	c.e12+1	p.K612_splice	HKDC1_uc010qje.1_Splice_Site_p.K475_splice	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1						glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5						CATTGACAAGGTAAGATAGCC	0.562													T	71010409	G	T	71010409	5	4	61	1	0	0	0	0	0	0	1	0	7193	1275	44	5	1883	5	HKDC1	10	71010409	Splice_Site	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1932	71010409	64524338	423	44209											
TYSND1	219743	broad.mit.edu	37	chr10	71899686	71899686	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtaacacagcctcagagCttgctccgcggggcctctgc	13	14	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:71899686C>T	uc001jqr.2	-	4	1849	c.1695G>A	c.(1693-1695)AAG>AAA	p.K565K	TYSND1_uc001jqq.2_RNA|TYSND1_uc001jqs.2_3'UTR|TYSND1_uc001jqt.2_RNA	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1 isoform a	565					proteolysis	peroxisome	serine-type endopeptidase activity			large_intestine(1)	1						AGCCTCAGAGCTTGCTCCGCG	0.622													T	71899686	C	T	71899686	2	4	61	1	0	0	0	0	0	0	0	1	16814	796	28	2		2	TYSND1	10	71899686	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	889277	71899686	63635061	424	44210											
KCNMA1	3778	broad.mit.edu	37	chr10	78771741	78771741	+	Frame_Shift_Del	DEL	T	T	-													ttacgccgtttgcagccacaTttttttattcttttgggatc							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:78771740_78771740AT>A	uc001jxn.3	-	17	2254	c.2077_2077AT>T	c.(2077-2079)tgtfs	p.C693fs	KCNMA1_uc021ptu.1_Frame_Shift_Del_p.C643fs|KCNMA1_uc001jxj.2_Frame_Shift_Del_p.C697fs|KCNMA1_uc001jxk.1_Frame_Shift_Del_p.C308fs|KCNMA1_uc009xrt.1_Frame_Shift_Del_p.C513fs|KCNMA1_uc001jxl.1_Frame_Shift_Del_p.C347fs|KCNMA1_uc001jxo.3_Frame_Shift_Del_p.C693fs|KCNMA1_uc001jxm.3_Frame_Shift_Del_p.C693fs|KCNMA1_uc001jxq.3_Frame_Shift_Del_p.C693fs	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	693					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TTGCAGCCACATTTTTTTATT	0.403													-	78771741	T	-	78771741	7	5	61	1	0	1	0	1	0	0	0	0	8073	1490	52	0	1834	0	KCNMA1	10	78771741	Frame_Shift_Del	DEL	T	TCGA-BR-8059-01A-11D-2340-08	6872055	78771741	56763006	425	44211											
GRID1	2894	broad.mit.edu	37	chr10	87966267	87966267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttcaggtggcatgcggtgCgtggcgaccctcccgggttg	18	11	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:87966267C>T	uc001kdl.1	-	3	475	c.374G>A	c.(373-375)CGC>CAC	p.R125H	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	125	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	GCATGCGGTGCGTGGCGACCC	0.632										Multiple Myeloma(13;0.14)			T	87966267	C	T	87966267	3	4	61	1	0	0	0	0	1	0	0	0	6771	768	27	1	2711	1	GRID1	10	87966267	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	9194526	87966267	47568480	426	44212											
ATAD1	84896	broad.mit.edu	37	chr10	89536099	89536099	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcagctgtgatcagtatcCaatccatcccagagactcat	8	12	2	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:89536099C>A	uc001key.1	-	5	952	c.669G>T	c.(667-669)TTG>TTT	p.L223F	ATAD1_uc010qmr.1_Missense_Mutation_p.L165F|ATAD1_uc009xth.1_RNA|ATAD1_uc001kez.1_Missense_Mutation_p.L223F	NM_032810	NP_116199	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	223						peroxisome	ATP binding|nucleoside-triphosphatase activity			large_intestine(1)|ovary(1)	2		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		GATCAGTATCCAATCCATCCC	0.398													A	89536099	C	A	89536099	3	1	61	1	0	0	0	0	1	0	0	0	1070	593	21	5	436	5	ATAD1	10	89536099	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1569832	89536099	45998648	427	44213											
IDE	3416	broad.mit.edu	37	chr10	94294388	94294388	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatcaaaatagtaattggtAtgctctccactagtaaaggc	7	8	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:94294388A>G	uc001kia.2	-	3	514	c.438T>C	c.(436-438)CAT>CAC	p.H146H		NM_004969	NP_004960	P14735	IDE_HUMAN	insulin-degrading enzyme isoform 1 precursor	146					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGTAATTGGTATGCTCTCCAC	0.378													G	94294388	A	G	94294388	2	3	61	1	0	0	0	0	0	0	0	1	7493	446	16	3		3	IDE	10	94294388	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	4758289	94294388	41240359	428	44214											
PDE6C	5146	broad.mit.edu	37	chr10	95381725	95381725	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccaataaagtatttgaagaaCtcacagatgttgagcgacag	9	7	1	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:95381725C>G	uc001kiu.3	+	4	898	c.760C>G	c.(760-762)CTC>GTC	p.L254V		NM_006204	NP_006195	P51160	PDE6C_HUMAN	phosphodiesterase 6C	254					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			ovary(2)|kidney(1)|skin(1)	4		Colorectal(252;0.123)				ATTTGAAGAACTCACAGATGT	0.398													G	95381725	C	G	95381725	3	3	61	1	0	0	0	0	1	0	0	0	11647	565	20	5	774	5	PDE6C	10	95381725	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1087337	95381725	40153022	429	44215											
DNMBP	23268	broad.mit.edu	37	chr10	101656136	101656136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccataaggctatcttcatcaCccttacggtacttgaggact	7	12	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:101656136C>T	uc001kqj.2	-	10	3031	c.2939G>A	c.(2938-2940)GGT>GAT	p.G980D	DNMBP_uc010qpl.1_Intron|DNMBP_uc001kqg.2_Missense_Mutation_p.G268D|DNMBP_uc001kqh.2_Missense_Mutation_p.G612D	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	980					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATCTTCATCACCCTTACGGTA	0.438													T	101656136	C	T	101656136	3	4	61	1	0	0	0	0	1	0	0	0	4674	507	18	4	1826	4	DNMBP	10	101656136	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	6274411	101656136	33878611	430	44216											
LZTS2	84445	broad.mit.edu	37	chr10	102763727	102763727	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctagggggccgtgtggctgGggggcttttgggcagtggta	21	7	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:102763727G>T	uc001ksj.2	+	3	941	c.872G>T	c.(871-873)GGG>GTG	p.G291V	LZTS2_uc010qpw.1_Missense_Mutation_p.G291V|LZTS2_uc001ksk.2_Missense_Mutation_p.G291V|LZTS2_uc001ksl.2_Missense_Mutation_p.G291V|LZTS2_uc001ksm.2_RNA	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	291	Ser-rich.|Required for centrosomal localization (By similarity).		G -> R (in a breast cancer sample; somatic mutation).		cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		p.G291R(1)		ovary(2)|large_intestine(1)|breast(1)	4				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CGTGTGGCTGGGGGGCTTTTG	0.701													T	102763727	G	T	102763727	3	4	61	1	0	0	0	0	1	0	0	0	9139	1232	43	5	878	5	LZTS2	10	102763727	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1107591	102763727	32771020	431	44217											
VWA2	340706	broad.mit.edu	37	chr10	116048905	116048905	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accaaacccacccgggctgcGatgctgcgggccattagcca	11	16	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:116048905G>A	uc001lbl.1	+	12	2100	c.1779G>A	c.(1777-1779)GCG>GCA	p.A593A	VWA2_uc001lbk.1_Silent_p.A593A|VWA2_uc009xyf.1_Silent_p.A289A	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	593	VWFA 3.					extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)		CCCGGGCTGCGATGCTGCGGG	0.637													A	116048905	G	A	116048905	2	1	61	1	0	0	0	0	0	0	0	1	17236	1045	37	1		1	VWA2	10	116048905	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	13285178	116048905	19485842	432	44218											
EIF3A	8661	broad.mit.edu	37	chr10	120810115	120810115	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctgcgttcttctttacgCtgccttttccgttcttccaa	5	14	3	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:120810115C>T	uc001ldu.2	-	16	2537	c.2391G>A	c.(2389-2391)CAG>CAA	p.Q797Q	EIF3A_uc010qsu.1_Silent_p.Q763Q|EIF3A_uc009xzg.1_5'Flank	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	797	Interaction with EIF3B.|Glu-rich.				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)		CTTCTTTACGCTGCCTTTTCC	0.418													T	120810115	C	T	120810115	2	4	61	1	0	0	0	0	0	0	0	1	5012	796	28	2		2	EIF3A	10	120810115	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	4761210	120810115	14724632	433	44219											
TACC2	10579	broad.mit.edu	37	chr10	123970380	123970381	+	Frame_Shift_Ins	INS	-	-	C													accaagaaacccacagagacINSccccccagtgaaggagacgc							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:123970379_123970380A>AC	uc001lfv.3	+	8	6799_6800	c.6439_6440A>AC	c.(6439-6441)accfs	p.T2147fs	TACC2_uc001lfw.3_Frame_Shift_Ins_p.T293fs|TACC2_uc009xzx.3_Frame_Shift_Ins_p.T2102fs|TACC2_uc010qtv.2_Frame_Shift_Ins_p.T2151fs|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Frame_Shift_Ins_p.T225fs|TACC2_uc001lga.3_Frame_Shift_Ins_p.T225fs|TACC2_uc009xzy.3_Frame_Shift_Ins_p.T225fs|TACC2_uc001lgb.3_Frame_Shift_Ins_p.T182fs|TACC2_uc010qtw.1_Frame_Shift_Ins_p.T242fs	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2147						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACCCACAGAGACCCCCCCAGTG	0.52													C	123970381	-	C	123970380	7	5	61	1	0	1	1	0	0	0	0	0	15499	507	18	0	6542	0	TACC2	10	123970380	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	3160265	123970380	11564367	434	44220											
DMBT1	1755	broad.mit.edu	37	chr10	124396684	124396684	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatgcaagccagtgtgagCaggagctatctccaatcctt	9	12	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:124396684C>T	uc001lgk.1	+	51	6517	c.6411C>T	c.(6409-6411)AGC>AGT	p.S2137S	DMBT1_uc001lgl.1_Silent_p.S2127S|DMBT1_uc001lgm.1_Silent_p.S1509S|DMBT1_uc009xzz.1_Silent_p.S2136S|DMBT1_uc010qtx.1_Silent_p.S857S|DMBT1_uc009yab.1_Silent_p.S840S|DMBT1_uc009yac.1_Silent_p.S431S	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2137	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCAGTGTGAGCAGGAGCTATC	0.532													T	124396684	C	T	124396684	2	4	61	1	0	0	0	0	0	0	0	1	4577	709	25	2		2	DMBT1	10	124396684	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	426304	124396684	11138063	435	44221											
C10orf90	118611	broad.mit.edu	37	chr10	128192844	128192844	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattggctctctgttcactaGgccatctactccatctgctg	7	13	4	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:128192844G>A	uc001ljq.2	-	3	1046	c.925C>T	c.(925-927)CTA>TTA	p.L309L	C10orf90_uc001ljp.2_Silent_p.L262L|C10orf90_uc010qum.1_Silent_p.L406L|C10orf90_uc009yao.2_Silent_p.L406L|C10orf90_uc001ljs.1_Silent_p.L262L	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	309										ovary(1)|skin(1)	2		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTGTTCACTAGGCCATCTACT	0.532											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	128192844	G	A	128192844	2	1	61	1	0	0	0	0	0	0	0	1	1623	991	35	4		4	C10orf90	10	128192844	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	3796160	128192844	7341903	436	44222											
GLRX3	10539	broad.mit.edu	37	chr10	131958297	131958297	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagtatctgaaaaataTgaaattagctctgttcccac	6	9	2	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:131958297T>A	uc001lkm.1	+	3	262	c.240T>A	c.(238-240)TAT>TAA	p.Y80*	GLRX3_uc001lkn.1_Nonsense_Mutation_p.Y80*|GLRX3_uc001lko.2_RNA	NM_006541	NP_006532	O76003	GLRX3_HUMAN	glutaredoxin 3	80	Thioredoxin.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity				0		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		CTGAAAAATATGAAATTAGCT	0.343													A	131958297	T	A	131958297	4	1	61	1	0	0	0	0	0	1	0	0	6461	1471	51	5	250	5	GLRX3	10	131958297	Nonsense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	3765453	131958297	3576450	437	44223											
LRRC27	80313	broad.mit.edu	37	chr10	134188716	134188716	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaacacaaaatatggAgaatcaggaaatgttcgcag	8	5	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:134188716A>G	uc010quw.1	+	11	1758	c.1563A>G	c.(1561-1563)GGA>GGG	p.G521G	LRRC27_uc001llg.2_RNA|LRRC27_uc001lli.2_Silent_p.G521G|LRRC27_uc001llj.2_Silent_p.G459G	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27 isoform a	521										ovary(1)	1		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CAAAATATGGAGAATCAGGAA	0.532													G	134188716	A	G	134188716	2	3	61	1	0	0	0	0	0	0	0	1	8981	291	11	3		3	LRRC27	10	134188716	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	2230419	134188716	1346031	438	44224											
PWWP2B	170394	broad.mit.edu	37	chr10	134219345	134219345	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagacacgggtgacctctcGcctggccacggcgcgtcagc	14	16	2	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:134219345G>A	uc001lll.3	+	2	1370	c.1341G>A	c.(1339-1341)TCG>TCA	p.S447S	PWWP2B_uc009ybe.2_Silent_p.S447S	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2 isoform 1	447											0		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GTGACCTCTCGCCTGGCCACG	0.697													A	134219345	G	A	134219345	2	1	61	1	0	0	0	0	0	0	0	1	12846	1074	38	1		1	PWWP2B	10	134219345	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	30629	134219345	1315402	439	44225											
PWWP2B	170394	broad.mit.edu	37	chr10	134219558	134219558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctcggccagaaggaggaCggagagccgtcttggcgaga	17	9	2	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:134219558C>T	uc001lll.3	+	2	1583	c.1554C>T	c.(1552-1554)GAC>GAT	p.D518D	PWWP2B_uc009ybe.2_Intron	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2 isoform 1	518	PWWP.										0		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		AGAAGGAGGACGGAGAGCCGT	0.542													T	134219558	C	T	134219558	2	4	61	1	0	0	0	0	0	0	0	1	12846	535	19	1		1	PWWP2B	10	134219558	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	213	134219558	1315189	440	44226											
INPP5A	3632	broad.mit.edu	37	chr10	134503931	134503931	+	Frame_Shift_Del	DEL	A	A	-													tattttcttcatgagtccttAaaaaacatctaccagtttga							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr10:134503930_134503930TA>T	uc001llp.3	+	4	589	c.341_341TA>T	c.(340-342)ttafs	p.L114fs	INPP5A_uc001llo.1_Frame_Shift_Del_p.L114fs|INPP5A_uc001llq.3_Frame_Shift_Del_p.L66fs	NM_005539	NP_005530	Q14642	I5P1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA.	114					cell communication	membrane	PH domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CATGAGTCCTTAAAAAACATC	0.428													-	134503931	A	-	134503931	7	5	61	1	0	1	0	1	0	0	0	0	7754	359	13	0	360	0	INPP5A	10	134503931	Frame_Shift_Del	DEL	A	TCGA-BR-8059-01A-11D-2340-08	284373	134503931	1030816	441	44227											
ATHL1	80162	broad.mit.edu	37	chr11	292553	292553	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaacccctcagggagccaAgtttgcctgggagagtgcag	13	13	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:292553A>C	uc010qvu.1	+	6	1149	c.1034A>C	c.(1033-1035)AAG>ACG	p.K345T	ATHL1_uc001lor.3_Missense_Mutation_p.K168T|ATHL1_uc001los.1_Missense_Mutation_p.K345T|ATHL1_uc001lou.3_5'Flank|ATHL1_uc001lov.3_5'Flank	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1	345					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(1)|skin(1)	3		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAGGGAGCCAAGTTTGCCTGG	0.652													C	292553	A	C	292553	3	2	61	1	0	0	0	0	1	0	0	0	1104	72	3	5	1052	5	ATHL1	11	292553	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08		292553	134713963	442	44228											
TALDO1	6888	broad.mit.edu	37	chr11	759008	759008	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttttgtgttgtttggagcaGaaatactaaagaagattccg	10	4	0	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:759008G>T	uc001lqz.2	+	3	330	c.280G>T	c.(280-282)GAA>TAA	p.E94*	TALDO1_uc010qwl.1_Nonsense_Mutation_p.E94*|TALDO1_uc001lra.2_Nonsense_Mutation_p.E94*	NM_006755	NP_006746	P37837	TALDO_HUMAN	transaldolase 1	94					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		GTTTGGAGCAGAAATACTAAA	0.438													T	759008	G	T	759008	4	4	61	1	0	0	0	0	0	1	0	0	15540	943	33	5	290	5	TALDO1	11	759008	Nonsense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	466455	759008	134247508	443	44229											
MUC5B	727897	broad.mit.edu	37	chr11	1275541	1275541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacaagtccatggatatcgTcctcactgtcaccatggtgc	8	13	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:1275541T>C	uc009ycr.1	+	56	16574	c.16448T>C	c.(16447-16449)GTC>GCC	p.V5483A	MUC5B_uc001ltb.2_Missense_Mutation_p.V5149A	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	5146	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ATGGATATCGTCCTCACTGTC	0.657													C	1275541	T	C	1275541	3	2	61	1	0	0	0	0	1	0	0	0	9979	1667	58	3	15580	3	MUC5B	11	1275541	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	516533	1275541	133730975	444	44230											
CTSD	1509	broad.mit.edu	37	chr11	1780830	1780831	+	Frame_Shift_Ins	INS	-	-	G													aagacgactgtgaagcactgINSggggggcgtcccgatgccaa							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:1780829_1780830T>TG	uc001luc.2	-	2	401_402	c.268_269A>CA	c.(268-270)cagfs	p.Q90fs	MOB2_uc001ltq.2_Intron	NM_001909	NP_001900	P07339	CATD_HUMAN	Homo sapiens cathepsin D (CTSD), mRNA.	90					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	p.Q90fs*50(2)		endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTGAAGCACTGGGGGGGCGTC	0.649													G	1780831	-	G	1780830	7	5	61	1	0	1	1	0	0	0	0	0	4032	1357	47	0	998	0	CTSD	11	1780830	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	505289	1780830	133225686	445	44231											
OR51S1	119692	broad.mit.edu	37	chr11	4870137	4870137	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagaaggcaggctgaggcaGggacagtgtgagcaccagca	17	8	0	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:4870137G>T	uc010qyo.1	-	1	302	c.302C>A	c.(301-303)CCT>CAT	p.P101H		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	101	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCTGAGGCAGGGACAGTGTG	0.527													T	4870137	G	T	4870137	3	4	61	1	0	0	0	0	1	0	0	0	11105	1000	35	5	672	5	OR51S1	11	4870137	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	3089307	4870137	130136379	446	44232											
OR51G1	79324	broad.mit.edu	37	chr11	4945149	4945149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccatcttgacaatacatgCaggtgtcaggacggtggagt	12	10	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:4945149C>T	uc010qyr.1	-	1	421	c.421G>A	c.(421-423)GCA>ACA	p.A141T		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	141	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAATACATGCAGGTGTCAGG	0.527													T	4945149	C	T	4945149	3	4	61	1	0	0	0	0	1	0	0	0	11098	710	25	2	546	2	OR51G1	11	4945149	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	75012	4945149	130061367	447	44233											
UBQLN3	50613	broad.mit.edu	37	chr11	5529644	5529644	+	Frame_Shift_Del	DEL	G	G	-													cctgagatgagggtgacgatGggggaactctgtttactgat							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:5529643_5529643TG>T	uc021qcw.1	-	0	1146	c.1146_1146CA>A	c.(1144-1146)ccafs	p.P382fs	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Frame_Shift_Del_p.P382fs	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	382										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGTGACGATGGGGGAACTC	0.572													-	5529644	G	-	5529644	7	5	61	1	0	1	0	1	0	0	0	0	16895	1348	47	0	826	0	UBQLN3	11	5529644	Frame_Shift_Del	DEL	G	TCGA-BR-8059-01A-11D-2340-08	584495	5529644	129476872	448	44234											
UBQLNL	143630	broad.mit.edu	37	chr11	5536427	5536451	+	Frame_Shift_Del	DEL	CTGGAGATCACCCTTTAATGTCTGT	CTGGAGATCACCCTTTAATGTCTGT	-													ctgctctgctcatctgacagCtggagatcaccctttaatgt							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:5536426_5536450GCTGGAGATCACCCTTTAATGTCTGT>G	uc001maz.4	-	0	1507_1531	c.1222_1246ACAGACATTAAAGGGTGATCTCCAGC>C	c.(1222-1248)cagacattaaagggtgatctccagctgfs	p.Q408fs	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	408										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TCATCTGACAGCTGGAGATCACCCTTTAATGTCTGTCTGGAGCTA	0.484													-	5536451	CTGGAGATCACCCTTTAATGTCTGT	-	5536427	7	5	61	1	0	1	0	1	0	0	0	0	16897	796	28	0	186	0	UBQLNL	11	5536427	Frame_Shift_Del	DEL	CTGGAGATCACCCTTTAATGTCTGT	TCGA-BR-8059-01A-11D-2340-08	6783	5536427	129470089	449	44235											
SCUBE2	57758	broad.mit.edu	37	chr11	9090971	9090971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggcctgcactcacaggCgacgctgccccttggggcct	12	17	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:9090971C>T	uc001mhh.1	-	5	669	c.589G>A	c.(589-591)GCC>ACC	p.A197T	SCUBE2_uc001mhi.1_Missense_Mutation_p.A197T|SCUBE2_uc001mhj.1_Missense_Mutation_p.A197T	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	197	EGF-like 4 (Potential).					extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CACTCACAGGCGACGCTGCCC	0.567													T	9090971	C	T	9090971	3	4	61	1	0	0	0	0	1	0	0	0	13945	768	27	1	2573	1	SCUBE2	11	9090971	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	3554544	9090971	125915545	450	44236											
ZNF143	7702	broad.mit.edu	37	chr11	9546824	9546824	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agacttggcagcattccataCtgcctcatcagaaatggggc	10	11	2	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:9546824C>G	uc001mhr.2	+	15	1842	c.1724C>G	c.(1723-1725)ACT>AGT	p.T575S	ZNF143_uc009yfu.2_Missense_Mutation_p.T574S|ZNF143_uc010rby.1_Missense_Mutation_p.T544S	NM_003442	NP_003433	P52747	ZN143_HUMAN	zinc finger protein 143	575					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding				0				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GCATTCCATACTGCCTCATCA	0.413													G	9546824	C	G	9546824	3	3	61	1	0	0	0	0	1	0	0	0	17729	565	20	5	1778	5	ZNF143	11	9546824	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	455853	9546824	125459692	451	44237											
SBF2	81846	broad.mit.edu	37	chr11	9878204	9878204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcagggtaggccaaaggcGtagttgctcagctgccaggt	15	10	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:9878204G>A	uc001mib.2	-	19	2302	c.2164C>T	c.(2164-2166)CGC>TGC	p.R722C	SBF2_uc001mif.3_Missense_Mutation_p.R478C|uc001mig.2_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	722					myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GGCCAAAGGCGTAGTTGCTCA	0.453													A	9878204	G	A	9878204	3	1	61	1	0	0	0	0	1	0	0	0	13859	1145	40	1	3473	1	SBF2	11	9878204	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	331380	9878204	125128312	452	44238											
ABCC8	6833	broad.mit.edu	37	chr11	17434263	17434263	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcgggccacactgattcGctggcgttgaccaccagaca	12	14	0	3	rs72559722		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:17434263G>A	uc001mnc.2	-	21	2632	c.2506C>T	c.(2506-2508)CGA>TGA	p.R836*		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	836	ABC transporter 1.|Cytoplasmic (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	ACACTGATTCGCTGGCGTTGA	0.542													A	17434263	G	A	17434263	4	1	61	1	0	0	0	0	0	1	0	0	58	1095	38	1	2315	1	ABCC8	11	17434263	Nonsense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	7556059	17434263	117572253	453	44239											
HPS5	11234	broad.mit.edu	37	chr11	18320518	18320518	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacagccacatcctgaatatCtacgaaaaccacaggtgtga	8	11	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:18320518C>A	uc001mod.1	-	10	1264	c.986_splice	c.e10-1	p.D329_splice	HPS5_uc001moe.1_Splice_Site_p.D215_splice|HPS5_uc001mof.1_Splice_Site_p.D215_splice	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5 isoform a							cytosol				ovary(1)|pancreas(1)|skin(1)	3						TCCTGAATATCTACGAAAACC	0.383									Hermansky-Pudlak_syndrome				A	18320518	C	A	18320518	5	1	61	1	0	0	0	0	0	0	1	0	7342	927	32	5	2460	5	HPS5	11	18320518	Splice_Site	SNP	C	TCGA-BR-8059-01A-11D-2340-08	886255	18320518	116685998	454	44240											
SLC17A6	57084	broad.mit.edu	37	chr11	22363169	22363169	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaggcgccgctgtgcgActgcacgtgcttcggcctgc	16	13	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:22363169A>G	uc001mqk.2	+	2	595	c.182A>G	c.(181-183)GAC>GGC	p.D61G		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	61	Cytoplasmic (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						CCGCTGTGCGACTGCACGTGC	0.647													G	22363169	A	G	22363169	3	3	61	1	0	0	0	0	1	0	0	0	14421	275	10	3	188	3	SLC17A6	11	22363169	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	4042651	22363169	112643347	455	44241											
SLC17A6	57084	broad.mit.edu	37	chr11	22381068	22381093	+	Splice_Site	DEL	GTTGAGGTATGTAACTTCAGGGTGAA	GTTGAGGTATGTAACTTCAGGGTGAA	-													tcagaatactgcagggacttGttgaggtatgtaacttcagg					rs116500422	by1000genomes	TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:22381067_22381092TGTTGAGGTATGTAACTTCAGGGTGAA>T	uc001mqk.3	+	4	986	c.573_splice	c.e4+1	p.E191_splice		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	191					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGCAGGGACTTGTTGAGGTATGTAACTTCAGGGTGAAGCCTTTTTA	0.372													-	22381093	GTTGAGGTATGTAACTTCAGGGTGAA	-	22381068	8	5	61	1	0	1	0	1	0	0	1	0	14421	1377	48	0	582	0	SLC17A6	11	22381068	Splice_Site	DEL	GTTGAGGTATGTAACTTCAGGGTGAA	TCGA-BR-8059-01A-11D-2340-08	17899	22381068	112625448	456	44242											
KIF18A	81930	broad.mit.edu	37	chr11	28090826	28090826	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctttggaatatgaccgttttGacttaagagtcccatttctt	7	8	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:28090826G>C	uc001msc.2	-	11	1752	c.1570C>G	c.(1570-1572)CAA>GAA	p.Q524E		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	524					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			ovary(2)	2						TGACCGTTTTGACTTAAGAGT	0.368													C	28090826	G	C	28090826	3	2	61	1	0	0	0	0	1	0	0	0	8280	1299	45	5	1154	5	KIF18A	11	28090826	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	5709758	28090826	106915690	457	44243											
DEPDC7	91614	broad.mit.edu	37	chr11	33054300	33054300	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaggcaaaacagatcttctGgtactctttttaatggatca	7	7	4	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:33054300G>T	uc001mub.2	+	7	1316	c.1224G>T	c.(1222-1224)CTG>CTT	p.L408L	DEPDC7_uc001muc.2_Silent_p.L399L	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	novel 58.3 KDA protein isoform 1	408					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|skin(1)	2						CAGATCTTCTGGTACTCTTTT	0.279													T	33054300	G	T	33054300	2	4	61	1	0	0	0	0	0	0	0	1	4444	1335	47	5		5	DEPDC7	11	33054300	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	4963474	33054300	101952216	458	44244											
C11orf41	25758	broad.mit.edu	37	chr11	33564426	33564426	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcagaaagctagcctctgcCactgcaaatgactctgctaa	8	12	2	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:33564426C>G	uc001mup.3	+	1	550	c.426C>G	c.(424-426)GCC>GCG	p.A142A	C11orf41_uc001mun.1_Silent_p.A142A	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	142						integral to membrane				ovary(2)	2						TAGCCTCTGCCACTGCAAATG	0.522											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	33564426	C	G	33564426	2	3	61	1	0	0	0	0	0	0	0	1	1640	581	21	5		5	C11orf41	11	33564426	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	510126	33564426	101442090	459	44245											
OR8H3	390152	broad.mit.edu	37	chr11	55890547	55890547	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaattaattccacttcaggAaagcagaaagctttctctac	5	9	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:55890547A>G	uc001nii.1	+	1	699	c.699A>G	c.(697-699)GGA>GGG	p.G233G		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					CCACTTCAGGAAAGCAGAAAG	0.398													G	55890547	A	G	55890547	2	3	61	1	0	0	0	0	0	0	0	1	11239	233	9	3		3	OR8H3	11	55890547	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	22326121	55890547	79115969	460	44246											
OR8K1	390157	broad.mit.edu	37	chr11	56113850	56113850	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctagcattctttgagatTttcatcatctctgagctctt	6	10	5	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:56113850T>G	uc010rjg.1	+	1	336	c.336T>G	c.(334-336)ATT>ATG	p.I112M		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K,	112	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					TCTTTGAGATTTTCATCATCT	0.408										HNSCC(65;0.19)			G	56113850	T	G	56113850	3	3	61	1	0	0	0	0	1	0	0	0	11243	1829	64	5	338	5	OR8K1	11	56113850	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	223303	56113850	78892666	461	44247											
OR5M8	219484	broad.mit.edu	37	chr11	56258216	56258216	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaggaaatacatatgatgaAgagagaaaaagaaaggttcc	11	3	0	5			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:56258216A>G	uc001nix.1	-	1	631	c.631T>C	c.(631-633)TTC>CTC	p.F211L		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	211	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)					CATATGATGAAGAGAGAAAAA	0.433													G	56258216	A	G	56258216	3	3	61	1	0	0	0	0	1	0	0	0	11176	72	3	3	308	3	OR5M8	11	56258216	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	144366	56258216	78748300	462	44248											
OR5M10	390167	broad.mit.edu	37	chr11	56344805	56344805	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggacatcctggaactgtaAtgtaaagggctgcaaatggc	12	7	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:56344805A>C	uc001niz.1	-	1	393	c.393T>G	c.(391-393)CAT>CAG	p.H131Q		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGGAACTGTAATGTAAAGGGC	0.458													C	56344805	A	C	56344805	3	2	61	1	0	0	0	0	1	0	0	0	11173	98	4	5	558	5	OR5M10	11	56344805	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	86589	56344805	78661711	463	44249											
SERPING1	710	broad.mit.edu	37	chr11	57373908	57373908	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagacaacatttgatcccaAgaaaaccagaatggaaccct	7	10	0	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:57373908A>C	uc001nkp.1	+	6	1108	c.917A>C	c.(916-918)AAG>ACG	p.K306T	SERPING1_uc001nkq.1_Missense_Mutation_p.K306T|SERPING1_uc010rju.1_Missense_Mutation_p.K254T|SERPING1_uc010rjv.1_Missense_Mutation_p.K311T|SERPING1_uc001nkr.1_Missense_Mutation_p.K306T|SERPING1_uc009ymi.1_Missense_Mutation_p.K315T|SERPING1_uc009ymj.1_Missense_Mutation_p.K306T|SERPING1_uc001nks.1_5'UTR	NM_000062	NP_000053	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	306				K -> R (in Ref. 1; AAA35613).	blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)	1						TTTGATCCCAAGAAAACCAGA	0.433									Hereditary_Angioedema				C	57373908	A	C	57373908	3	2	61	1	0	0	0	0	1	0	0	0	14116	72	3	5	935	5	SERPING1	11	57373908	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	1029103	57373908	77632608	464	44250											
LPXN	9404	broad.mit.edu	37	chr11	58295583	58295583	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtagttttccaacactgggCgattgcagccaccacacttg	10	12	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:58295583C>G	uc001nmw.2	-	8	969	c.824G>C	c.(823-825)CGC>CCC	p.R275P	LPXN_uc009ymp.2_Missense_Mutation_p.R145P|LPXN_uc010rkj.1_Missense_Mutation_p.R280P|LPXN_uc010rkk.1_Missense_Mutation_p.R255P	NM_004811	NP_004802	O60711	LPXN_HUMAN	leupaxin isoform 2	275	LIM zinc-binding 3.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CAACACTGGGCGATTGCAGCC	0.473													G	58295583	C	G	58295583	3	3	61	1	0	0	0	0	1	0	0	0	8929	768	27	5	344	5	LPXN	11	58295583	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	921675	58295583	76710933	465	44251											
RTN3	10313	broad.mit.edu	37	chr11	63523611	63523611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatcactatgttggcatcGcccgagatcagaccaagtca	9	11	3	3	rs140229299	byFrequency	TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:63523611G>A	uc001nxq.2	+	8	3209	c.3022G>A	c.(3022-3024)GCC>ACC	p.A1008T	RTN3_uc001nxo.2_Missense_Mutation_p.A212T|RTN3_uc001nxm.2_Missense_Mutation_p.A231T|RTN3_uc001nxn.2_Missense_Mutation_p.A989T|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Missense_Mutation_p.A896T|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Silent_p.S126S	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	1008	Interaction with FADD.|Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		p.A989T(1)		ovary(1)	1						TGTTGGCATCGCCCGAGATCA	0.408													A	63523611	G	A	63523611	3	1	61	1	0	0	0	0	1	0	0	0	13727	1087	38	1	3052	1	RTN3	11	63523611	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	5228028	63523611	71482905	466	44252											
CDC42BPG	55561	broad.mit.edu	37	chr11	64597021	64597021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatccacgtagatgccagCagtggtgaagagtagcagga	14	9	0	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:64597021C>T	uc001obs.3	-	30	3889	c.3889G>A	c.(3889-3891)GCT>ACT	p.A1297T		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1297	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						TAGATGCCAGCAGTGGTGAAG	0.657													T	64597021	C	T	64597021	3	4	61	1	0	0	0	0	1	0	0	0	3074	710	25	2	798	2	CDC42BPG	11	64597021	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1073410	64597021	70409495	467	44253											
PPP2R5B	5526	broad.mit.edu	37	chr11	64699297	64699297	+	Frame_Shift_Del	DEL	T	T	-													tgtgaagatccaggagccccTttttaagcaggtggctcgct							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:64699296_64699296CT>C	uc001obz.3	+	9	1365	c.1072_1072CT>C	c.(1072-1074)cttfs	p.L358fs	PPP2R5B_uc001oby.3_Frame_Shift_Del_p.L358fs	NM_006244	NP_006235	Q15173	2A5B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', beta (PPP2R5B), mRNA.	358					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CCAGGAGCCCCTTTTTAAGCA	0.577													-	64699297	T	-	64699297	7	5	61	1	0	1	0	1	0	0	0	0	12393	1609	56	0	1111	0	PPP2R5B	11	64699297	Frame_Shift_Del	DEL	T	TCGA-BR-8059-01A-11D-2340-08	102276	64699297	70307219	468	44254											
NAALADL1	10004	broad.mit.edu	37	chr11	64824895	64824895	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagggcaatggtgccttcaAgtttgatgccctgagtctgt	12	9	3	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:64824895A>C	uc001ocn.2	-	4	567	c.551T>G	c.(550-552)CTT>CGT	p.L184R	NAALADL1_uc010rnw.1_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic	184	Extracellular (Potential).				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity				0						GGTGCCTTCAAGTTTGATGCC	0.607													C	64824895	A	C	64824895	3	2	61	1	0	0	0	0	1	0	0	0	10129	72	3	5	1731	5	NAALADL1	11	64824895	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	125598	64824895	70181621	469	44255											
SPDYC	387778	broad.mit.edu	37	chr11	64940288	64940289	+	Frame_Shift_Ins	INS	-	-	C													ctctcgccgccccactgttcINScccctgtggtttgccccagc							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:64940287_64940288T>TC	uc010rnz.2	+	5	649_650	c.649_650T>TC	c.(649-651)tccfs	p.S217fs		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	Homo sapiens speedy homolog C (Xenopus laevis) (SPDYC), mRNA.	217					cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						GCCCCACTGTTCCCCCTGTGGT	0.649													C	64940289	-	C	64940288	7	5	61	1	0	1	1	0	0	0	0	0	15027	855	30	0	672	0	SPDYC	11	64940288	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	115393	64940288	70066228	470	44256											
SCYL1	57410	broad.mit.edu	37	chr11	65294436	65294436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacccctcccctacagatcCccaaaacgctggtgccccat	6	19	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:65294436C>T	uc001oea.1	+	6	774	c.697C>T	c.(697-699)CCC>TCC	p.P233S	SCYL1_uc009yqk.2_Missense_Mutation_p.P233S|SCYL1_uc001oeb.1_Missense_Mutation_p.P233S|SCYL1_uc001oec.1_Missense_Mutation_p.P233S|SCYL1_uc001oed.1_Missense_Mutation_p.P90S	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A	233	Protein kinase.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			skin(1)	1						CCTACAGATCCCCAAAACGCT	0.637													T	65294436	C	T	65294436	3	4	61	1	0	0	0	0	1	0	0	0	13947	623	22	4	719	4	SCYL1	11	65294436	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	354148	65294436	69712080	471	44257											
SLC29A2	3177	broad.mit.edu	37	chr11	66131005	66131005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggccacctccctctcgtGtggcagcacctgcctagaac	10	18	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:66131005G>A	uc001oht.2	-	12	1502	c.1273C>T	c.(1273-1275)CAC>TAC	p.H425Y	SLC29A2_uc001ohs.2_Missense_Mutation_p.H305Y|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.H305Y|SLC29A2_uc001ohu.2_Missense_Mutation_p.H425Y|SLC29A2_uc001ohv.2_3'UTR	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	425					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1						TCCCTCTCGTGTGGCAGCACC	0.572													A	66131005	G	A	66131005	3	1	61	1	0	0	0	0	1	0	0	0	14535	1377	48	4	101	4	SLC29A2	11	66131005	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	836569	66131005	68875511	472	44258											
CLCF1	23529	broad.mit.edu	37	chr11	67134968	67134968	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcggagttggtgctccaggTagcgggtgaggtcataggtt	18	6	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:67134968T>C	uc001okq.2	-	2	342	c.146A>G	c.(145-147)TAC>TGC	p.Y49C	LOC100130987_uc010rpo.1_Intron|CLCF1_uc010rpp.1_Missense_Mutation_p.Y39C	NM_013246	NP_037378	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1 precursor	49					B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity				0			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			GTGCTCCAGGTAGCGGGTGAG	0.607													C	67134968	T	C	67134968	3	2	61	1	0	0	0	0	1	0	0	0	3461	1638	57	3	539	3	CLCF1	11	67134968	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	1003963	67134968	67871548	473	44259											
RPS6KB2	6199	broad.mit.edu	37	chr11	67201739	67201739	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtggacccccctttcaggcCctgtctggtgagcagcaggg	14	13	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:67201739C>A	uc001old.2	+	12	1122	c.1040C>A	c.(1039-1041)CCC>CAC	p.P347H	RPS6KB2_uc001olf.2_Missense_Mutation_p.P147H|RPS6KB2_uc001olg.2_Missense_Mutation_p.P347H|RPS6KB2_uc009yrq.2_Missense_Mutation_p.P147H|RPS6KB2_uc001ole.2_RNA|RPS6KB2_uc001olh.2_RNA|RPS6KB2_uc009yrr.2_Missense_Mutation_p.P178H	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	347	AGC-kinase C-terminal.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)|salivary_gland(1)	7			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCTTTCAGGCCCTGTCTGGTG	0.612													A	67201739	C	A	67201739	3	1	61	1	0	0	0	0	1	0	0	0	13657	623	22	5	1086	5	RPS6KB2	11	67201739	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	66771	67201739	67804777	474	44260											
PITPNM1	9600	broad.mit.edu	37	chr11	67267784	67267784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgcgctgggccagcatgCgagcagtctcctcttccagt	11	15	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:67267784C>T	uc001olx.2	-	5	938	c.749G>A	c.(748-750)CGC>CAC	p.R250H	PITPNM1_uc001olw.2_5'Flank|PITPNM1_uc001oly.2_Missense_Mutation_p.R250H|PITPNM1_uc001olz.2_Missense_Mutation_p.R250H	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	250					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						GGCCAGCATGCGAGCAGTCTC	0.692													T	67267784	C	T	67267784	3	4	61	1	0	0	0	0	1	0	0	0	11950	768	27	1	3061	1	PITPNM1	11	67267784	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	66045	67267784	67738732	475	44261											
C11orf24	53838	broad.mit.edu	37	chr11	68030283	68030283	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcaatgtgacaggagaAgctgctgccatggttacatc	12	8	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:68030283A>C	uc001onr.3	-	4	622	c.180T>G	c.(178-180)GCT>GCG	p.A60A	C11orf24_uc001ons.2_Silent_p.A60A	NM_022338	NP_071733	Q96F05	CK024_HUMAN	hypothetical protein LOC53838 precursor	60	Extracellular (Potential).					integral to membrane					0						TGACAGGAGAAGCTGCTGCCA	0.463													C	68030283	A	C	68030283	2	2	61	1	0	0	0	0	0	0	0	1	1635	59	3	5		5	C11orf24	11	68030283	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	762499	68030283	66976233	476	44262											
DHCR7	1717	broad.mit.edu	37	chr11	71146457	71146457	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggcggtaaggcactgcGgcggtgtagcgctcccagtc	16	12	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:71146457G>A	uc001oqk.2	-	9	1642	c.1392C>T	c.(1390-1392)GCC>GCT	p.A464A	DHCR7_uc001oql.2_Silent_p.A464A	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	464					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			ovary(1)|liver(1)	2					NADH(DB00157)	AAGGCACTGCGGCGGTGTAGC	0.647									Smith-Lemli-Opitz_syndrome				A	71146457	G	A	71146457	2	1	61	1	0	0	0	0	0	0	0	1	4477	1103	39	1		1	DHCR7	11	71146457	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	3116174	71146457	63860059	477	44263											
OR2AT4	341152	broad.mit.edu	37	chr11	74799925	74799925	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggcatataccacattgccCatgatatggaagtcaagggg	11	8	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:74799925C>A	uc010rro.1	-	1	834	c.834G>T	c.(832-834)ATG>ATT	p.M278I		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT,	278	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CCACATTGCCCATGATATGGA	0.512													A	74799925	C	A	74799925	3	1	61	1	0	0	0	0	1	0	0	0	10987	594	21	5	131	5	OR2AT4	11	74799925	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	3653468	74799925	60206591	478	44264											
TSKU	25987	broad.mit.edu	37	chr11	76506961	76506961	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctgctcaccagcatctcaCccactgccttctcccgcctt	4	21	3	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:76506961C>G	uc001oxt.2	+	2	473	c.301C>G	c.(301-303)CCC>GCC	p.P101A		NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	tsukushin precursor	101	LRR 2.					extracellular region					0	Ovarian(111;0.112)					CAGCATCTCACCCACTGCCTT	0.632													G	76506961	C	G	76506961	3	3	61	1	0	0	0	0	1	0	0	0	16624	507	18	5	303	5	TSKU	11	76506961	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1707036	76506961	58499555	479	44265											
NARS2	79731	broad.mit.edu	37	chr11	78285486	78285486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgcttggggaagggggcGgaggaacagaagcgcacgga	20	6	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:78285486G>A	uc001ozi.2	-	1	424	c.48C>T	c.(46-48)TCC>TCT	p.S16S	NARS2_uc010rsq.1_Intron	NM_024678	NP_078954	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial	16					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			ovary(2)	2	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GGAAGGGGGCGGAGGAACAGA	0.677													A	78285486	G	A	78285486	2	1	61	1	0	0	0	0	0	0	0	1	10171	1103	39	1		1	NARS2	11	78285486	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1778525	78285486	56721030	480	44266											
PICALM	8301	broad.mit.edu	37	chr11	85733455	85733455	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcaacttgtctgtatgaaActgctttctcatttaaatat	5	7	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:85733455A>G	uc001pbm.2	-	4	693	c.407T>C	c.(406-408)GTT>GCT	p.V136A	PICALM_uc001pbl.2_Missense_Mutation_p.V136A|PICALM_uc001pbn.2_Missense_Mutation_p.V136A|PICALM_uc010rtl.1_Missense_Mutation_p.V85A	NM_007166	NP_009097	Q13492	PICAL_HUMAN	phosphatidylinositol-binding clathrin assembly	136	ENTH.				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			urinary_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TCTGTATGAAACTGCTTTCTC	0.269			T	MLLT10|MLL	TALL|AML|								G	85733455	A	G	85733455	3	3	61	1	0	0	0	0	1	0	0	0	11880	43	2	3	1647	3	PICALM	11	85733455	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	7447969	85733455	49273061	481	44267											
FAT3	120114	broad.mit.edu	37	chr11	92533395	92533395	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgagtcatatgtgagtgaaTtagccccccggggccatttt	11	9	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:92533395T>G	uc001pdj.3	+	9	7233	c.7216T>G	c.(7216-7218)TTA>GTA	p.L2406V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2406	Cadherin 22.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTGAGTGAATTAGCCCCCCG	0.433										TCGA Ovarian(4;0.039)			G	92533395	T	G	92533395	3	3	61	1	0	0	0	0	1	0	0	0	5691	1490	52	5	7250	5	FAT3	11	92533395	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	6799940	92533395	42473121	482	44268											
DYNC2H1	79659	broad.mit.edu	37	chr11	103075616	103075616	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcaaacttcatgataaacTgtgagagtaatccagctttg	7	7	2	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:103075616T>C	uc001pho.2	+	52	8521	c.8377T>C	c.(8377-8379)TGT>CGT	p.C2793R	DYNC2H1_uc001phn.1_Missense_Mutation_p.C2793R|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2793	AAA 4 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CATGATAAACTGTGAGAGTAA	0.323													C	103075616	T	C	103075616	3	2	61	1	0	0	0	0	1	0	0	0	4846	1580	55	3	8583	3	DYNC2H1	11	103075616	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	10542221	103075616	31930900	483	44269											
BACE1	23621	broad.mit.edu	37	chr11	117161685	117161685	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtagagtgagatgactggGaaaatgttccaaggggtggt	17	3	0	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:117161685G>A	uc001pqz.2	-	7	1484	c.1023C>T	c.(1021-1023)TTC>TTT	p.F341F	BACE1_uc001pqw.2_Silent_p.F316F|BACE1_uc001pqx.2_Silent_p.F272F|BACE1_uc001pqy.2_Silent_p.F297F|BACE1_uc010rxg.1_Silent_p.F216F|BACE1_uc010rxh.1_Silent_p.F241F|BACE1_uc009yzo.1_Intron|uc010rxi.1_5'Flank	NM_012104	NP_036236	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1 isoform A	341	Extracellular (Potential).				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			ovary(1)	1	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		AGATGACTGGGAAAATGTTCC	0.552													A	117161685	G	A	117161685	2	1	61	1	0	0	0	0	0	0	0	1	1281	1165	41	4		4	BACE1	11	117161685	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	14086069	117161685	17844831	484	44270											
UBE4A	9354	broad.mit.edu	37	chr11	118253471	118253471	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggctctaatcaaggtttTtgtggacatcgaatttacag	10	6	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:118253471T>C	uc001psw.2	+	13	2306	c.2177T>C	c.(2176-2178)TTT>TCT	p.F726S	UBE4A_uc001psv.2_Missense_Mutation_p.F733S	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	726					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ATCAAGGTTTTTGTGGACATC	0.458													C	118253471	T	C	118253471	3	2	61	1	0	0	0	0	1	0	0	0	16879	1841	64	3	2244	3	UBE4A	11	118253471	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	1091786	118253471	16753045	485	44271											
DPAGT1	1798	broad.mit.edu	37	chr11	118968584	118968584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggtatgcggtggcgagGgcaggggatgatatgcagga	20	6	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:118968584G>A	uc001pvi.2	-	6	1318	c.898C>T	c.(898-900)CCT>TCT	p.P300S	H2AFX_uc001pvg.2_5'Flank|H2AFX_uc001pvh.1_5'Flank|DPAGT1_uc001pvj.2_Missense_Mutation_p.P193S|DPAGT1_uc009zaq.2_Intron|DPAGT1_uc001pvk.2_Missense_Mutation_p.P128S|DPAGT1_uc010ryz.1_Missense_Mutation_p.P300S|DPAGT1_uc001pvm.1_3'UTR|DPAGT1_uc010rza.1_Missense_Mutation_p.P193S	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN	UDP-N-acetylglucosamine-dolichyl-phosphate	300	Cytoplasmic (Potential).				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|ovary(1)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CGGTGGCGAGGGCAGGGGATG	0.498													A	118968584	G	A	118968584	3	1	61	1	0	0	0	0	1	0	0	0	4710	1232	43	4	344	4	DPAGT1	11	118968584	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	715113	118968584	16037932	486	44272											
RNF26	79102	broad.mit.edu	37	chr11	119206040	119206040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcattgctggccttgatcGaagccgtggtccggttcaca	11	11	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:119206040G>A	uc001pwh.2	+	1	804	c.208G>A	c.(208-210)GAA>AAA	p.E70K		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	ring finger protein 26	70	Leu-rich.						zinc ion binding			ovary(1)	1		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GGCCTTGATCGAAGCCGTGGT	0.592													A	119206040	G	A	119206040	3	1	61	1	0	0	0	0	1	0	0	0	13486	1059	37	1	210	1	RNF26	11	119206040	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	237456	119206040	15800476	487	44273											
OR8B4	283162	broad.mit.edu	37	chr11	124294407	124294407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttgcagatggccacatagcGatcataggccattgatacca	10	10	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr11:124294407G>A	uc010sak.1	-	1	361	c.361C>T	c.(361-363)CGC>TGC	p.R121C		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	121	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GCCACATAGCGATCATAGGCC	0.453													A	124294407	G	A	124294407	3	1	61	1	0	0	0	0	1	0	0	0	11229	1058	37	1	570	1	OR8B4	11	124294407	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	5088367	124294407	10712109	488	44274											
KDM5A	5927	broad.mit.edu	37	chr12	432830	432830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtagagacatacaagccGctcaggattacaggaacatg	11	8	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:432830G>A	uc001qif.1	-	15	2449	c.2086C>T	c.(2086-2088)CGG>TGG	p.R696W	KDM5A_uc001qie.1_Missense_Mutation_p.R696W|KDM5A_uc010sdn.1_Missense_Mutation_p.R655W|KDM5A_uc010sdo.1_Missense_Mutation_p.R315W	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	696					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						CATACAAGCCGCTCAGGATTA	0.438			T 	NUP98	AML								A	432830	G	A	432830	3	1	61	1	0	0	0	0	1	0	0	0	8133	1086	38	1	3042	1	KDM5A	12	432830	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08		432830	133419065	489	44275											
KCNA6	3742	broad.mit.edu	37	chr12	4919281	4919281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggagagcaacaggatgCgggagacttcccggaggccg	19	9	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:4919281C>T	uc001qng.2	+	1	940	c.74C>T	c.(73-75)GCG>GTG	p.A25V		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	25						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						CAACAGGATGCGGGAGACTTC	0.682										HNSCC(72;0.22)			T	4919281	C	T	4919281	3	4	61	1	0	0	0	0	1	0	0	0	8007	768	27	1	76	1	KCNA6	12	4919281	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	4486451	4919281	128932614	490	44276											
VWF	7450	broad.mit.edu	37	chr12	6153589	6153589	+	Frame_Shift_Del	DEL	G	G	-													ggacacaccagcttgaccatGgggggccgacaggataggct							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:6153588_6153588TG>T	uc001qnn.1	-	17	2561	c.2311_2311CA>A	c.(2311-2313)atgfs	p.M771fs	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	771	Amino-terminal.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGCTTGACCATGGGGGGCCGA	0.542													-	6153589	G	-	6153589	7	5	61	1	0	1	0	1	0	0	0	0	17243	1335	47	0	6271	0	VWF	12	6153589	Frame_Shift_Del	DEL	G	TCGA-BR-8059-01A-11D-2340-08	1234308	6153589	127698306	491	44277											
CD27	939	broad.mit.edu	37	chr12	6559355	6559355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtcttctcgttcgcaaCtgcaccatcactgccaatgc	7	16	3	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:6559355C>T	uc001qod.2	+	3	496	c.285C>T	c.(283-285)AAC>AAT	p.N95N	LOC678655_uc001qob.2_Intron|LOC678655_uc001qoc.2_Intron|LOC678655_uc009zel.1_Intron|CD27_uc001qoe.2_5'UTR|LOC678655_uc009zem.1_Intron|LOC678655_uc001qof.2_Intron|TAPBPL_uc001qog.3_5'Flank|TAPBPL_uc001qoh.3_5'Flank|TAPBPL_uc001qoi.1_5'Flank	NM_001242	NP_001233	P26842	CD27_HUMAN	tumor necrosis factor receptor superfamily,	95	Extracellular (Potential).|TNFR-Cys 2.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity				0						TCGTTCGCAACTGCACCATCA	0.582													T	6559355	C	T	6559355	2	4	61	1	0	0	0	0	0	0	0	1	2990	564	20	4		4	CD27	12	6559355	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	405766	6559355	127292540	492	44278											
NCAPD2	9918	broad.mit.edu	37	chr12	6635473	6635473	+	Frame_Shift_Del	DEL	C	C	-													ccttctctgggcaaacgtcaCccccccttccggctgcctca							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:6635472_6635472AC>A	uc001qoo.2	+	19	2547	c.2501_2501AC>A	c.(2500-2502)cacfs	p.H834fs	NCAPD2_uc009zen.1_Frame_Shift_Del_p.H706fs|NCAPD2_uc010sfd.1_Frame_Shift_Del_p.H789fs	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	834					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GGCAAACGTCACCCCCCCTTC	0.572													-	6635473	C	-	6635473	7	5	61	1	0	1	0	1	0	0	0	0	10205	506	18	0	2576	0	NCAPD2	12	6635473	Frame_Shift_Del	DEL	C	TCGA-BR-8059-01A-11D-2340-08	76118	6635473	127216422	493	44279											
A2M	2	broad.mit.edu	37	chr12	9227269	9227269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgggccgtgagataagCgaggagcacataggatgtca	16	7	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:9227269C>T	uc001qvk.1	-	29	3756	c.3643G>A	c.(3643-3645)GCT>ACT	p.A1215T	A2M_uc001qvj.1_Missense_Mutation_p.A257T|A2M_uc009zgk.1_Missense_Mutation_p.A1065T	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1215					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	GTGAGATAAGCGAGGAGCACA	0.587													T	9227269	C	T	9227269	3	4	61	1	0	0	0	0	1	0	0	0	4	768	27	1	813	1	A2M	12	9227269	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2591796	9227269	124624626	494	44280											
STYK1	55359	broad.mit.edu	37	chr12	10777340	10777340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagtagaggagatggcccctCgggtgtaaacttcataagcc	13	9	1	2	rs147511596		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:10777340C>T	uc001qys.2	-	8	1357	c.836G>A	c.(835-837)CGA>CAA	p.R279Q		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	279	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						GATGGCCCCTCGGGTGTAAAC	0.502										HNSCC(73;0.22)			T	10777340	C	T	10777340	3	4	61	1	0	0	0	0	1	0	0	0	15358	884	31	1	448	1	STYK1	12	10777340	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1550071	10777340	123074555	495	44281											
TAS2R8	50836	broad.mit.edu	37	chr12	10959538	10959544	+	Frame_Shift_Del	DEL	AGTTATT	AGTTATT	-													attcctagtatgaattctccAgttattaggattataaagat							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:10959537_10959543CAGTTATT>C	uc010shh.2	-	0	37_43	c.37_43AATAACTG>G	c.(37-45)ataactggafs	p.I13fs		NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN	Homo sapiens taste receptor, type 2, member 8 (TAS2R8), mRNA.	13					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATGAATTCTCCAGTTATTAGGATTATA	0.357													-	10959544	AGTTATT	-	10959538	7	5	61	1	0	1	0	1	0	0	0	0	15584	175	7	0	890	0	TAS2R8	12	10959538	Frame_Shift_Del	DEL	AGTTATT	TCGA-BR-8059-01A-11D-2340-08	182198	10959538	122892357	496	44282											
LRP6	4040	broad.mit.edu	37	chr12	12334193	12334193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatccatctataaatgaaCggcgtatggccctcacttca	7	12	3	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:12334193C>T	uc001rah.3	-	6	1299	c.1157G>A	c.(1156-1158)CGT>CAT	p.R386H	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R386H	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	386	LDL-receptor class B 6.|Extracellular (Potential).|Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12		Prostate(47;0.0865)				TATAAATGAACGGCGTATGGC	0.468													T	12334193	C	T	12334193	3	4	61	1	0	0	0	0	1	0	0	0	8962	536	19	1	3756	1	LRP6	12	12334193	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1374655	12334193	121517702	497	44283											
GRIN2B	2904	broad.mit.edu	37	chr12	13716375	13716375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccgccactggggcagccGgctggtccagttcctgcagg	14	15	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:13716375G>A	uc001rbt.2	-	13	3976	c.3797C>T	c.(3796-3798)CCG>CTG	p.P1266L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1266	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGGGCAGCCGGCTGGTCCAG	0.587													A	13716375	G	A	13716375	3	1	61	1	0	0	0	0	1	0	0	0	6780	1116	39	1	661	1	GRIN2B	12	13716375	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1382182	13716375	120135520	498	44284											
GRIN2B	2904	broad.mit.edu	37	chr12	13768095	13768095	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgctgcgtgacaccatgAcactgatgcctgtctctatg	9	12	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:13768095A>C	uc001rbt.2	-	7	1786	c.1607T>G	c.(1606-1608)GTC>GGC	p.V536G		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	536	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGACACCATGACACTGATGCC	0.517													C	13768095	A	C	13768095	3	2	61	1	0	0	0	0	1	0	0	0	6780	275	10	5	2875	5	GRIN2B	12	13768095	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	51720	13768095	120083800	499	44285											
GRIN2B	2904	broad.mit.edu	37	chr12	13906806	13906806	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcattacggaagcttgcTgttcaattgatgggccaaac	11	8	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:13906806T>G	uc001rbt.2	-	3	634	c.455A>C	c.(454-456)CAG>CCG	p.Q152P		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	152	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGAAGCTTGCTGTTCAATTGA	0.398													G	13906806	T	G	13906806	3	3	61	1	0	0	0	0	1	0	0	0	6780	1580	55	5	4043	5	GRIN2B	12	13906806	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	138711	13906806	119945089	500	44286											
SLCO1B3	28234	broad.mit.edu	37	chr12	21220293	21220293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcacttgcaatcggcttcCattcaatgattatgcgatcg	8	10	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:21220293C>T	uc010sil.1	+	14	1971	c.1906C>T	c.(1906-1908)CAT>TAT	p.H636Y	LST-3TM12_uc010sim.1_Missense_Mutation_p.H575Y|LST-3TM12_uc010sin.1_Missense_Mutation_p.H528Y			Q9NPD5	SO1B3_HUMAN	SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					AATCGGCTTCCATTCAATGAT	0.279													T	21220293	C	T	21220293	3	4	61	1	0	0	0	0	1	0	0	0	14724	594	21	4		4	SLCO1B3	12	21220293	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	7313487	21220293	112631602	501	44287											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:25398284C>T	uc001rgp.1	-	2	216	c.35G>A	c.(34-36)GGT>GAT	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25398284	C	T	25398284	3	4	61	1	0	0	0	0	1	0	0	0	8438	507	18	4	671	4	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	4177991	25398284	108453611	502	44288											
PKP2	5318	broad.mit.edu	37	chr12	33031100	33031100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggtacgtgagcagggcCgggttggcagggatgctgtc	20	8	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:33031100C>T	uc001rlj.3	-	3	829	c.714G>A	c.(712-714)CCG>CCA	p.P238P	PKP2_uc001rlk.3_Silent_p.P238P|PKP2_uc010skj.1_Silent_p.P238P	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	238					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGAGCAGGGCCGGGTTGGCAG	0.607													T	33031100	C	T	33031100	2	4	61	1	0	0	0	0	0	0	0	1	11985	639	23	1		1	PKP2	12	33031100	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	7632816	33031100	100820795	503	44289											
LRRK2	120892	broad.mit.edu	37	chr12	40645122	40645122	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagataaattgttttgGctggaagcctgttacaaagc	11	5	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:40645122G>A	uc001rmg.3	+	9	1168	c.1047G>A	c.(1045-1047)TGG>TGA	p.W349*	LRRK2_uc001rmh.1_5'Flank	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	349					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AATTGTTTTGGCTGGAAGCCT	0.338											OREG0003829	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	40645122	G	A	40645122	4	1	61	1	0	0	0	0	0	1	0	0	9033	1212	42	2	1081	2	LRRK2	12	40645122	Nonsense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	7614022	40645122	93206773	504	44290											
NELL2	4753	broad.mit.edu	37	chr12	45209887	45209887	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaaaactgttcagctgTagcagtggatgcttttatgc	10	7	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:45209887T>C	uc001rog.2	-	3	812	c.217A>G	c.(217-219)ACA>GCA	p.T73A	NELL2_uc001rof.3_Missense_Mutation_p.T72A|NELL2_uc001roh.2_Missense_Mutation_p.T73A|NELL2_uc009zkd.2_Missense_Mutation_p.T72A|NELL2_uc010skz.1_Missense_Mutation_p.T123A|NELL2_uc010sla.1_Missense_Mutation_p.T96A|NELL2_uc001roi.1_Missense_Mutation_p.T73A|NELL2_uc010slb.1_Missense_Mutation_p.T72A|NELL2_uc001roj.2_Missense_Mutation_p.T73A	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	73	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGTTCAGCTGTAGCAGTGGAT	0.308													C	45209887	T	C	45209887	3	2	61	1	0	0	0	0	1	0	0	0	10334	1638	57	3	2305	3	NELL2	12	45209887	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	4564765	45209887	88642008	505	44291											
ANO6	196527	broad.mit.edu	37	chr12	45741846	45741846	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtatttgtaaaagtacaCgcaccatgggaggtgttatg	11	6	0	0	rs144883809		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:45741846C>T	uc001roo.2	+	5	716	c.381C>T	c.(379-381)CAC>CAT	p.H127H	ANO6_uc010sld.1_Silent_p.H127H|ANO6_uc010sle.1_Silent_p.H127H|ANO6_uc010slf.1_Silent_p.H148H|ANO6_uc010slg.1_Silent_p.H109H	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	127	Cytoplasmic (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						TAAAAGTACACGCACCATGGG	0.378													T	45741846	C	T	45741846	2	4	61	1	0	0	0	0	0	0	0	1	701	535	19	1		1	ANO6	12	45741846	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	531959	45741846	88110049	506	44292											
FAM113B	91523	broad.mit.edu	37	chr12	47628998	47628998	+	Frame_Shift_Del	DEL	G	G	-													tcccgggcagcttagagcaaGgggggagctgaacttcgaac							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:47628997_47628997AG>A	uc001rpq.3	+	1	676	c.151_151AG>A	c.(151-153)aggfs	p.R51fs	FAM113B_uc001rpn.3_Frame_Shift_Del_p.R51fs|FAM113B_uc021qxi.1_Frame_Shift_Del_p.R51fs	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	51							hydrolase activity	p.R51G(2)|p.R51R(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					GCTTAGAGCAAGGGGGGAGCT	0.612													-	47628998	G	-	47628998	7	5	61	1	0	1	0	1	0	0	0	0	5402	1000	35	0	154	0	FAM113B	12	47628998	Frame_Shift_Del	DEL	G	TCGA-BR-8059-01A-11D-2340-08	1887152	47628998	86222897	507	44293											
ZNF641	121274	broad.mit.edu	37	chr12	48737166	48737166	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgatgaggtgatgtcttcGcccaaaggtcttctcacact	9	12	3	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:48737166G>A	uc001rrn.1	-	6	1072	c.907C>T	c.(907-909)CGA>TGA	p.R303*	ZNF641_uc001rro.1_Nonsense_Mutation_p.R289*|ZNF641_uc010sls.1_Nonsense_Mutation_p.R280*	NM_152320	NP_689533	Q96N77	ZN641_HUMAN	zinc finger protein 641	303	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						TGATGTCTTCGCCCAAAGGTC	0.522													A	48737166	G	A	48737166	4	1	61	1	0	0	0	0	0	1	0	0	18054	1095	38	1	413	1	ZNF641	12	48737166	Nonsense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1108168	48737166	85114729	508	44294											
RHEBL1	121268	broad.mit.edu	37	chr12	49462855	49462855	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtagccttccgagaactcGccttccacaaattgatgtgc	8	13	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:49462855G>A	uc001rtc.1	-	2	294	c.87C>T	c.(85-87)GGC>GGT	p.G29G	RHEBL1_uc001rtd.1_Silent_p.G25G|RHEBL1_uc009zlc.1_RNA	NM_144593	NP_653194	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1 precursor	29					positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding			lung(1)|breast(1)	2						CCGAGAACTCGCCTTCCACAA	0.517													A	49462855	G	A	49462855	2	1	61	1	0	0	0	0	0	0	0	1	13329	1074	38	1		1	RHEBL1	12	49462855	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	725689	49462855	84389040	509	44295											
DIP2B	57609	broad.mit.edu	37	chr12	51116998	51116998	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgcaggcattgagttaatCgccgccttctatggctgcct	10	12	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:51116998C>T	uc001rwv.2	+	27	3336	c.3180C>T	c.(3178-3180)ATC>ATT	p.I1060I	DIP2B_uc009zlt.2_Silent_p.I490I	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	1060						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						TTGAGTTAATCGCCGCCTTCT	0.502													T	51116998	C	T	51116998	2	4	61	1	0	0	0	0	0	0	0	1	4528	874	31	1		1	DIP2B	12	51116998	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1654143	51116998	82734897	510	44296											
KRT80	144501	broad.mit.edu	37	chr12	52565273	52565273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctgcccttcttctttcggGagggggccttggagaggcct	15	11	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:52565273G>A	uc001rzx.2	-	9	1366	c.1268C>T	c.(1267-1269)TCC>TTC	p.S423F	KRT80_uc001rzw.2_Missense_Mutation_p.S458F|KRT80_uc001rzy.2_3'UTR	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	keratin 80 isoform a	423	Tail.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.108)		CTTCTTTCGGGAGGGGGCCTT	0.567													A	52565273	G	A	52565273	3	1	61	1	0	0	0	0	1	0	0	0	8494	1174	41	4	94	4	KRT80	12	52565273	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1448275	52565273	81286622	511	44297											
KRT71	112802	broad.mit.edu	37	chr12	52946555	52946555	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcattgacggtaacctggtGgatgcctccaggtgggcata	13	10	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:52946555G>T	uc001sao.2	-	1	377	c.307C>A	c.(307-309)CAC>AAC	p.H103N		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	keratin 71	103	Head.						structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.194)		GTAACCTGGTGGATGCCTCCA	0.632													T	52946555	G	T	52946555	3	4	61	1	0	0	0	0	1	0	0	0	8484	1348	47	5	1300	5	KRT71	12	52946555	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	381282	52946555	80905340	512	44298											
KRT73	319101	broad.mit.edu	37	chr12	53004418	53004418	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcactcctcgccctccaGcagcttgcggtaggtggcga	12	16	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:53004418G>A	uc001sas.2	-	7	1347	c.1312C>T	c.(1312-1314)CTG>TTG	p.L438L		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	438	Rod.|Coil 2.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGCCCTCCAGCAGCTTGCGG	0.607													A	53004418	G	A	53004418	2	1	61	1	0	0	0	0	0	0	0	1	8486	962	34	2		2	KRT73	12	53004418	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	57863	53004418	80847477	513	44299											
KRT4	3851	broad.mit.edu	37	chr12	53202626	53202626	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgacatgggtctgcatctgGgacagctcctgcagggcaaa	13	11	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:53202626G>T	uc001saz.2	-	5	1336	c.1065C>A	c.(1063-1065)TCC>TCA	p.S355S		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	keratin 4	281						keratin filament	structural molecule activity			ovary(4)|skin(2)	6						TCTGCATCTGGGACAGCTCCT	0.567													T	53202626	G	T	53202626	2	4	61	1	0	0	0	0	0	0	0	1	8477	1219	43	5		5	KRT4	12	53202626	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	198208	53202626	80649269	514	44300											
CSAD	51380	broad.mit.edu	37	chr12	53564261	53564261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaagtcccagaaacgcaGctcccttctggatggagtag	11	12	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:53564261G>A	uc001sby.2	-	8	719	c.593C>T	c.(592-594)GCT>GTT	p.A198V	CSAD_uc001sbw.2_Missense_Mutation_p.A51V|CSAD_uc009zmt.2_5'UTR|CSAD_uc010snx.1_Missense_Mutation_p.A225V|CSAD_uc001sbz.2_Missense_Mutation_p.A198V|CSAD_uc009zmu.2_Missense_Mutation_p.A51V|CSAD_uc001sca.3_RNA	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	198					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CAGAAACGCAGCTCCCTTCTG	0.557									Hereditary_Prostate_Cancer				A	53564261	G	A	53564261	3	1	61	1	0	0	0	0	1	0	0	0	3925	971	34	2	924	2	CSAD	12	53564261	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	361635	53564261	80287634	515	44301											
HOXC13	3229	broad.mit.edu	37	chr12	54333266	54333266	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggctacctggacgtgtcGgtggtgcccgggatcagcgg	17	13	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:54333266G>A	uc001sei.2	+	1	691	c.576G>A	c.(574-576)TCG>TCA	p.S192S	HOXC13_uc010sop.1_RNA	NM_017410	NP_059106	P31276	HXC13_HUMAN	homeobox C13	192						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						TGGACGTGTCGGTGGTGCCCG	0.677			T	NUP98	AML								A	54333266	G	A	54333266	2	1	61	1	0	0	0	0	0	0	0	1	7312	1103	39	1		1	HOXC13	12	54333266	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	769005	54333266	79518629	516	44302											
CBX5	23468	broad.mit.edu	37	chr12	54651347	54651347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccacttgtcccttaaccaCgcgcctgtctagcaccttct	5	17	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:54651347C>T	uc001sfh.3	-	2	406	c.88G>A	c.(88-90)GTG>ATG	p.V30M	CBX5_uc001sfk.3_Missense_Mutation_p.V30M|CBX5_uc001sfi.3_Missense_Mutation_p.V30M|CBX5_uc001sfj.3_Missense_Mutation_p.V30M	NM_001127322	NP_001120794	P45973	CBX5_HUMAN	heterochromatin protein 1-alpha	30	Chromo 1.				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding				0						CCCTTAACCACGCGCCTGTCT	0.483													T	54651347	C	T	54651347	3	4	61	1	0	0	0	0	1	0	0	0	2721	536	19	1	503	1	CBX5	12	54651347	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	318081	54651347	79200548	517	44303											
OR6C6	283365	broad.mit.edu	37	chr12	55688543	55688543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcttgagtcccatgacCaatgggggaaatatgattaa	10	8	0	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:55688543C>T	uc010sph.1	-	1	474	c.474G>A	c.(472-474)TTG>TTA	p.L158L		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|skin(1)	2						GTCCCATGACCAATGGGGGAA	0.418													T	55688543	C	T	55688543	2	4	61	1	0	0	0	0	0	0	0	1	11194	593	21	4		4	OR6C6	12	55688543	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1037196	55688543	78163352	518	44304											
ERBB3	2065	broad.mit.edu	37	chr12	56495520	56495520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagtgcctctctgggcaGcacacagagttgcccactcc	9	17	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:56495520G>A	uc001sjh.2	+	28	3903	c.3710G>A	c.(3709-3711)AGC>AAC	p.S1237N	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Missense_Mutation_p.S594N|ERBB3_uc010sqc.1_Missense_Mutation_p.S1178N|ERBB3_uc009zok.2_Missense_Mutation_p.S502N|ERBB3_uc001sjk.2_Missense_Mutation_p.S478N|ERBB3_uc001sjl.2_Missense_Mutation_p.S357N|PA2G4_uc001sjm.2_5'Flank|PA2G4_uc009zol.2_5'Flank|PA2G4_uc009zom.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	1237	Cytoplasmic (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TCTCTGGGCAGCACACAGAGT	0.542													A	56495520	G	A	56495520	3	1	61	1	0	0	0	0	1	0	0	0	5208	971	34	2	3951	2	ERBB3	12	56495520	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	806977	56495520	77356375	519	44305											
R3HDM2	22864	broad.mit.edu	37	chr12	57660560	57660560	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactgcagggagagggagaCtgaggcatctggtactgctc	17	8	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:57660560C>T	uc009zpm.1	-	17	2078	c.2043G>A	c.(2041-2043)CAG>CAA	p.Q681Q	R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_Silent_p.Q376Q|R3HDM2_uc001snr.2_Silent_p.Q408Q|R3HDM2_uc001sns.2_Silent_p.Q681Q|R3HDM2_uc001snt.2_Silent_p.Q695Q|R3HDM2_uc009zpn.1_Intron	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	681	Gln-rich.					nucleus	nucleic acid binding			ovary(2)	2						GAGAGGGAGACTGAGGCATCT	0.542													T	57660560	C	T	57660560	2	4	61	1	0	0	0	0	0	0	0	1	12888	564	20	4		4	R3HDM2	12	57660560	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1165040	57660560	76191335	520	44306											
INHBC	3626	broad.mit.edu	37	chr12	57843751	57843751	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tattatgacagggacagcaaCattgtcaagactgacatacc	8	9	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:57843751C>G	uc001snv.1	+	2	1132	c.1005C>G	c.(1003-1005)AAC>AAG	p.N335K		NM_005538	NP_005529	P55103	INHBC_HUMAN	inhibin beta C chain preproprotein	335					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding				0						GGGACAGCAACATTGTCAAGA	0.567													G	57843751	C	G	57843751	3	3	61	1	0	0	0	0	1	0	0	0	7743	477	17	5	1011	5	INHBC	12	57843751	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	183191	57843751	76008144	521	44307											
CYP27B1	1594	broad.mit.edu	37	chr12	58158285	58158285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggagtgctgtctggacttCggggtgccgggagagctcat	18	8	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:58158285C>T	uc001spz.1	-	6	1164	c.1012G>A	c.(1012-1014)GAA>AAA	p.E338K	CYP27B1_uc001sqa.1_Missense_Mutation_p.E103K|CYP27B1_uc001sqb.1_3'UTR|CYP27B1_uc001sqc.1_3'UTR	NM_000785	NP_000776	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B,	338					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)	3	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	GTCTGGACTTCGGGGTGCCGG	0.582													T	58158285	C	T	58158285	3	4	61	1	0	0	0	0	1	0	0	0	4159	893	31	1	530	1	CYP27B1	12	58158285	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	314534	58158285	75693610	522	44308											
LRRIQ1	84125	broad.mit.edu	37	chr12	85500378	85500378	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tactggaaacccacttcttcAagaaacaaactggaggtaaa	7	9	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:85500378A>T	uc001tac.2	+	15	3473	c.3362A>T	c.(3361-3363)CAA>CTA	p.Q1121L	LRRIQ1_uc001tab.1_Missense_Mutation_p.Q1121L	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1121	LRRCT.									ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		CCACTTCTTCAAGAAACAAAC	0.328													T	85500378	A	T	85500378	3	4	61	1	0	0	0	0	1	0	0	0	9029	130	5	5	3416	5	LRRIQ1	12	85500378	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	27342093	85500378	48351517	523	44309											
C12orf50	160419	broad.mit.edu	37	chr12	88420304	88420304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatccattgatatttcgagGtttgctgtgataaaagatac	8	5	0	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:88420304G>A	uc001tam.1	-	3	262	c.94C>T	c.(94-96)CCT>TCT	p.P32S	C12orf50_uc001tan.2_Missense_Mutation_p.P86S	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	32										skin(2)|ovary(1)	3						ATATTTCGAGGTTTGCTGTGA	0.378													A	88420304	G	A	88420304	3	1	61	1	0	0	0	0	1	0	0	0	1695	1261	44	4	1194	4	C12orf50	12	88420304	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	2919926	88420304	45431591	524	44310											
TMTC3	160418	broad.mit.edu	37	chr12	88553917	88553917	+	Frame_Shift_Del	DEL	T	T	-													ctccaattgccttgacagtgTttttagtggctgttgcaaca							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:88553916_88553916GT>G	uc001tau.3	+	4	754	c.534_534GT>G	c.(532-534)gtgfs	p.V178fs	TMTC3_uc009zsm.2_Non-coding_Transcript	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 3 (TMTC3), mRNA.	178						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CCTTGACAGTGTTTTTAGTGG	0.313													-	88553917	T	-	88553917	7	5	61	1	0	1	0	1	0	0	0	0	16259	1725	60	0	549	0	TMTC3	12	88553917	Frame_Shift_Del	DEL	T	TCGA-BR-8059-01A-11D-2340-08	133613	88553917	45297978	525	44311											
ANKS1B	56899	broad.mit.edu	37	chr12	100169377	100169377	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatgaaatgtgtgtttcttGtgttgcatcttcctgtacag	10	6	2	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:100169377G>T	uc001tge.1	-	7	1327	c.910C>A	c.(910-912)CAA>AAA	p.Q304K	ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.Q270K	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	304						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGTGTTTCTTGTGTTGCATCT	0.388													T	100169377	G	T	100169377	3	4	61	1	0	0	0	0	1	0	0	0	689	1386	48	5	3204	5	ANKS1B	12	100169377	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	11615460	100169377	33682518	526	44312											
UTP20	27340	broad.mit.edu	37	chr12	101680157	101680158	+	Frame_Shift_Ins	INS	-	-	T													ctacccacactttccagagtINStttttttgactatcacctcg							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:101680156_101680157G>GT	uc001tia.1	+	4	540_541	c.384_385G>GT	c.(382-387)gagtttfs	p.E128fs	UTP20_uc009ztz.1_Frame_Shift_Ins_p.E128fs	NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	128					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			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACTTTCCAGAGTTTTTTTTGAC	0.396													T	101680158	-	T	101680157	7	5	61	1	0	1	1	0	0	0	0	0	17096	1725	60	0	403	0	UTP20	12	101680157	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	1510780	101680157	32171738	527	44313											
APPL2	55198	broad.mit.edu	37	chr12	105597552	105597552	+	Frame_Shift_Del	DEL	A	A	-													aacatctctgctcccttcttAaaaaagttaatctgaaagat							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:105597551_105597551TA>T	uc010swu.1	-	8	870	c.652_652TA>A	c.(652-654)aagfs	p.K218fs	APPL2_uc010swt.2_Frame_Shift_Del_p.K169fs|APPL2_uc001tlf.1_Frame_Shift_Del_p.K212fs|APPL2_uc001tlg.1_5'UTR|APPL2_uc009zuq.3_Frame_Shift_Del_p.K169fs	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.	212	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GCTCCCTTCTTAAAAAAGTTA	0.433													-	105597552	A	-	105597552	7	5	61	1	0	1	0	1	0	0	0	0	818	359	13	0	1413	0	APPL2	12	105597552	Frame_Shift_Del	DEL	A	TCGA-BR-8059-01A-11D-2340-08	3917395	105597552	28254343	528	44314											
ACAD10	80724	broad.mit.edu	37	chr12	112182513	112182513	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttgtgtctaacctggcgtGggatttcgcagtcaaagaag	12	7	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:112182513G>A	uc001tsq.2	+	13	1981	c.1781G>A	c.(1780-1782)TGG>TAG	p.W594*	ACAD10_uc001tsp.2_Nonsense_Mutation_p.W594*|ACAD10_uc009zvx.2_Nonsense_Mutation_p.W625*|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	594							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						AACCTGGCGTGGGATTTCGCA	0.498													A	112182513	G	A	112182513	4	1	61	1	0	0	0	0	0	1	0	0	108	1357	47	4	1924	4	ACAD10	12	112182513	Nonsense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	6584961	112182513	21669382	529	44315											
PTPN11	5781	broad.mit.edu	37	chr12	112926847	112926847	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgttgactgcgatattgaCgttcccaaaaccatccagat	9	10	0	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:112926847C>T	uc001ttx.2	+	13	1847	c.1467C>T	c.(1465-1467)GAC>GAT	p.D489D		NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	493	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392						GCGATATTGACGTTCCCAAAA	0.443			Mis		JMML|AML|MDS		Noonan Syndrome		Noonan_syndrome				T	112926847	C	T	112926847	2	4	61	1	0	0	0	0	0	0	0	1	12780	535	19	1		1	PTPN11	12	112926847	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	744334	112926847	20925048	530	44316											
RPH3A	22895	broad.mit.edu	37	chr12	113314620	113314620	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcccgccagccaccaCccccagaggaggaggaagag	13	16	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:113314620C>A	uc010syl.1	+	13	1482	c.1120C>A	c.(1120-1122)CCC>ACC	p.P374T	RPH3A_uc001ttz.2_Missense_Mutation_p.P374T|RPH3A_uc001tty.2_Missense_Mutation_p.P370T|RPH3A_uc009zwe.1_Missense_Mutation_p.P370T|RPH3A_uc010sym.1_Missense_Mutation_p.P325T|RPH3A_uc001tua.2_Missense_Mutation_p.P134T	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	374	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CCAGCCACCACCCCCAGAGGA	0.592													A	113314620	C	A	113314620	3	1	61	1	0	0	0	0	1	0	0	0	13551	507	18	5	1162	5	RPH3A	12	113314620	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	387773	113314620	20537275	531	44317											
OAS3	4940	broad.mit.edu	37	chr12	113385824	113385824	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctggcactgggatttgctaGcccaggaggcagcatcctgc	13	13	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:113385824G>C	uc001tug.2	+	5	1036	c.949G>C	c.(949-951)GCC>CCC	p.A317P		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	317	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1						GGATTTGCTAGCCCAGGAGGC	0.572													C	113385824	G	C	113385824	3	2	61	1	0	0	0	0	1	0	0	0	10801	971	34	5	967	5	OAS3	12	113385824	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	71204	113385824	20466071	532	44318											
OAS2	4939	broad.mit.edu	37	chr12	113436174	113436174	+	Frame_Shift_Del	DEL	A	A	-													aaacctggttgacttctcccAacctggataatgagttacct							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:113436173_113436173CA>C	uc001tuj.3	+	4	1106	c.966_966CA>C	c.(964-966)cccfs	p.P322fs	OAS2_uc001tui.1_Frame_Shift_Del_p.P322fs	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	322	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGACTTCTCCCAACCTGGATA	0.443													-	113436174	A	-	113436174	7	5	61	1	0	1	0	1	0	0	0	0	10800	130	5	0	1056	0	OAS2	12	113436174	Frame_Shift_Del	DEL	A	TCGA-BR-8059-01A-11D-2340-08	50350	113436174	20415721	533	44319											
FBXO21	23014	broad.mit.edu	37	chr12	117612011	117612011	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttactgtacctatatttaccTgatgcatatataagttgagg	7	6	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:117612011T>C	uc001twk.2	-	6	914	c.875A>G	c.(874-876)CAG>CGG	p.Q292R	FBXO21_uc001twj.2_Missense_Mutation_p.Q292R|FBXO21_uc009zwq.2_Missense_Mutation_p.Q292R	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	292					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TATATTTACCTGATGCATATA	0.284													C	117612011	T	C	117612011	3	2	61	1	0	0	0	0	1	0	0	0	5733	1594	55	3	1039	3	FBXO21	12	117612011	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	4175837	117612011	16239884	534	44320											
SUDS3	64426	broad.mit.edu	37	chr12	118828954	118828954	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaagtggaacgaaattaCattaaagaaaagaaggcagc	10	5	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:118828954C>T	uc001twz.2	+	6	523	c.384C>T	c.(382-384)TAC>TAT	p.Y128Y		NM_022491	NP_071936	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3	128	Potential.				chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACGAAATTACATTAAAGAAA	0.448													T	118828954	C	T	118828954	2	4	61	1	0	0	0	0	0	0	0	1	15366	489	17	4		4	SUDS3	12	118828954	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1216943	118828954	15022941	535	44321											
CCDC60	160777	broad.mit.edu	37	chr12	119937911	119937911	+	Frame_Shift_Del	DEL	A	A	-													gtggaagcaagagcaccattAaaaaaatcaataaggacaag							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:119937910_119937910TA>T	uc001txe.3	+	5	1050	c.585_585TA>T	c.(583-585)attfs	p.I195fs	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	195										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGAGCACCATTAAAAAAATCA	0.438													-	119937911	A	-	119937911	7	5	61	1	0	1	0	1	0	0	0	0	2831	363	13	0	608	0	CCDC60	12	119937911	Frame_Shift_Del	DEL	A	TCGA-BR-8059-01A-11D-2340-08	1108957	119937911	13913984	536	44322											
SLC15A4	121260	broad.mit.edu	37	chr12	129293469	129293469	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagcaggaggatgagcacAgcatcaaacatggtcagcca	12	9	2	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:129293469A>C	uc001uhu.2	-	5	1175	c.1122T>G	c.(1120-1122)GCT>GCG	p.A374A	SLC15A4_uc001uhv.2_RNA	NM_145648	NP_663623	Q8N697	S15A4_HUMAN	solute carrier family 15, member 4	374	Helical; (Potential).				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		GGATGAGCACAGCATCAAACA	0.557													C	129293469	A	C	129293469	2	2	61	1	0	0	0	0	0	0	0	1	14401	175	7	5		5	SLC15A4	12	129293469	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	9355558	129293469	4558426	537	44323											
POLE	5426	broad.mit.edu	37	chr12	133210934	133210934	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtcctcattttcctgctcatCctctgctccccctgctttct	4	18	4	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:133210934C>A	uc001uks.1	-	43	5886	c.5842G>T	c.(5842-5844)GAT>TAT	p.D1948Y	POLE_uc001ukq.1_Missense_Mutation_p.D158Y|POLE_uc001ukr.1_Missense_Mutation_p.D752Y|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1948					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		tcctgctcatcctcTGCTCCC	0.358								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	133210934	C	A	133210934	3	1	61	1	0	0	0	0	1	0	0	0	12196	855	30	5	1046	5	POLE	12	133210934	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	3917465	133210934	640961	538	44324											
POLE	5426	broad.mit.edu	37	chr12	133219578	133219578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgggcatctggttgctgCgcacctagaccaacgcaggc	14	13	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr12:133219578C>T	uc001uks.1	-	36	4600	c.4556G>A	c.(4555-4557)CGC>CAC	p.R1519H	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.R323H|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1519					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CTGGTTGCTGCGCACCTAGAC	0.672								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	133219578	C	T	133219578	3	4	61	1	0	0	0	0	1	0	0	0	12196	768	27	1	2360	1	POLE	12	133219578	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	8644	133219578	632317	539	44325											
TUBA3C	7278	broad.mit.edu	37	chr13	19748247	19748247	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcacacagcccgctgcaccTtggccaggtctcccccaggg	11	18	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr13:19748247T>G	uc009zzj.2	-	5	1158	c.1109A>C	c.(1108-1110)AAG>ACG	p.K370T		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	370					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)|skin(2)	5		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCGCTGCACCTTGGCCAGGTC	0.602													G	19748247	T	G	19748247	3	3	61	1	0	0	0	0	1	0	0	0	16743	1609	56	5	247	5	TUBA3C	13	19748247	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08		19748247	95421631	540	44326											
GPR12	2835	broad.mit.edu	37	chr13	27333706	27333706	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccagcaggtctgcaagagCcaggctgcctattagcagga	14	11	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr13:27333706C>A	uc010aal.2	-	2	481	c.259G>T	c.(259-261)GCT>TCT	p.A87S	GPR12_uc010tdl.1_Intron	NM_005288	NP_005279	P47775	GPR12_HUMAN	G protein-coupled receptor 12	87	Helical; Name=2; (Potential).					integral to plasma membrane					0	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TCTGCAAGAGCCAGGCTGCCT	0.537													A	27333706	C	A	27333706	3	1	61	1	0	0	0	0	1	0	0	0	6635	739	26	5	749	5	GPR12	13	27333706	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	7585459	27333706	87836172	541	44327											
SMAD9	4093	broad.mit.edu	37	chr13	37446842	37446842	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggacttcctggggagTgagggtagctggccgtgcac	17	9	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr13:37446842T>C	uc001uvw.2	-	3	966	c.623A>G	c.(622-624)CAC>CGC	p.H208R	SMAD9_uc001uvx.2_Missense_Mutation_p.H208R|SMAD9_uc010tep.1_Missense_Mutation_p.H38R	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	208					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TCCTGGGGAGTGAGGGTAGCT	0.572													C	37446842	T	C	37446842	3	2	61	1	0	0	0	0	1	0	0	0	14764	1696	59	3	800	3	SMAD9	13	37446842	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	10113136	37446842	77723036	542	44328											
FREM2	341640	broad.mit.edu	37	chr13	39261866	39261866	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagtcccaagcgcttcccgTgcgactttggccctggcgag	13	14	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr13:39261866T>G	uc001uwv.2	+	1	694	c.385T>G	c.(385-387)TGC>GGC	p.C129G		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	129	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCGCTTCCCGTGCGACTTTGG	0.716													G	39261866	T	G	39261866	3	3	61	1	0	0	0	0	1	0	0	0	6045	1696	59	5	387	5	FREM2	13	39261866	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	1815024	39261866	75908012	543	44329											
DGKH	160851	broad.mit.edu	37	chr13	42793377	42793377	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaaatagcagctggaatcGccacatgaagagcgagtatc	12	8	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr13:42793377G>A	uc001uyl.1	+	27	3246	c.3225G>A	c.(3223-3225)TCG>TCA	p.S1075S	DGKH_uc010tfh.1_Silent_p.S1075S|DGKH_uc001uym.1_Silent_p.S1075S|DGKH_uc010tfi.1_Silent_p.S830S|DGKH_uc010tfj.1_Silent_p.S930S|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Silent_p.S930S|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	1075					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AGCTGGAATCGCCACATGAAG	0.408													A	42793377	G	A	42793377	2	1	61	1	0	0	0	0	0	0	0	1	4470	1074	38	1		1	DGKH	13	42793377	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	3531511	42793377	72376501	544	44330											
AKAP11	11215	broad.mit.edu	37	chr13	42874175	42874175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaacctgtgtgatgctccGgattctcctcgcccagtgaa	11	12	1	2	rs139837011	by1000genomes	TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr13:42874175G>A	uc001uys.1	+	8	1468	c.1293G>A	c.(1291-1293)CCG>CCA	p.P431P		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	431					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GTGATGCTCCGGATTCTCCTC	0.463													A	42874175	G	A	42874175	2	1	61	1	0	0	0	0	0	0	0	1	447	1103	39	1		1	AKAP11	13	42874175	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	80798	42874175	72295703	545	44331											
FNDC3A	22862	broad.mit.edu	37	chr13	49710542	49710543	+	In_Frame_Ins	INS	-	-	AAATTG													atatgaacgtttgcagaaaaINSaattgaaggatcgccaagga							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr13:49710541_49710542A>AAAATTG	uc001vcm.3	+	5	869_870	c.564_565A>AAAATTG	c.(562-567)aaaaaa>aaAAAATTGaa	p.190_191insL	FNDC3A_uc001vcl.1_In_Frame_Ins_p.190_191insL|FNDC3A_uc001vcn.3_In_Frame_Ins_p.190_191insL|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcp.1_In_Frame_Ins_p.134_135insL|FNDC3A_uc001vcq.3_In_Frame_Ins_p.134_135insL	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	190						Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GTTTGCAGAAAAAATTGAAGGA	0.381													AAATTG	49710543	-	AAATTG	49710542	7	5	61	1	0	1	1	0	0	0	0	0	5969	15	1	0	594	0	FNDC3A	13	49710542	In_Frame_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	6836367	49710542	65459336	546	44332											
CDADC1	81602	broad.mit.edu	37	chr13	49852489	49852489	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgctcactctcgtagagaAgttgtgatggaacaggtgcc	12	8	2	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr13:49852489A>C	uc001vcu.2	+	7	1130	c.1054A>C	c.(1054-1056)AGT>CGT	p.S352R	CDADC1_uc010tgk.1_Missense_Mutation_p.S154R|CDADC1_uc001vcv.2_Intron	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	352							hydrolase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		CTCGTAGAGAAGTTGTGATGG	0.388													C	49852489	A	C	49852489	3	2	61	1	0	0	0	0	1	0	0	0	3053	72	3	5	1080	5	CDADC1	13	49852489	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	141947	49852489	65317389	547	44333											
PHF11	51131	broad.mit.edu	37	chr13	50096243	50096243	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctcaggcaatcatgtacaGgtaatttgacttagttttta	7	7	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr13:50096243G>T	uc001vdb.2	+	6	907	c.570G>T	c.(568-570)CAG>CAT	p.Q190H	PHF11_uc001vdc.2_Missense_Mutation_p.Q151H|PHF11_uc001vdd.2_RNA	NM_001040443	NP_001035533	Q9UIL8	PHF11_HUMAN	PHD finger protein 11 isoform a	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding				0		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		ATCATGTACAGGTAATTTGAC	0.333													T	50096243	G	T	50096243	3	4	61	1	0	0	0	0	1	0	0	0	11822	1014	35	5	592	5	PHF11	13	50096243	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	243754	50096243	65073635	548	44334											
INTS6	26512	broad.mit.edu	37	chr13	52004473	52004473	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tagtcaacttgctcccatcaGtaattgtgataattattgct	6	8	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr13:52004473G>C	uc001vfk.2	-	4	1000	c.386C>G	c.(385-387)ACT>AGT	p.T129S	INTS6_uc001vfj.2_Missense_Mutation_p.T116S|INTS6_uc001vfl.2_5'UTR	NM_012141	NP_036273	Q9UL03	INT6_HUMAN	integrator complex subunit 6 isoform a	129	VWFA.				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			ovary(1)|lung(1)	2		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		GCTCCCATCAGTAATTGTGAT	0.363													C	52004473	G	C	52004473	3	2	61	1	0	0	0	0	1	0	0	0	7782	1029	36	5	2337	5	INTS6	13	52004473	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1908230	52004473	63165405	549	44335											
PCDH9	5101	broad.mit.edu	37	chr13	67800090	67800090	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacggtgacgaagatcacaAcaatgaccaccatggcaccg	10	12	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr13:67800090A>G	uc001vik.2	-	2	3175	c.2483T>C	c.(2482-2484)GTT>GCT	p.V828A	PCDH9_uc001vil.2_Missense_Mutation_p.V828A|PCDH9_uc010thl.1_Missense_Mutation_p.V828A|PCDH9_uc001vin.3_Missense_Mutation_p.V828A	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	828	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GAAGATCACAACAATGACCAC	0.517													G	67800090	A	G	67800090	3	3	61	1	0	0	0	0	1	0	0	0	11518	43	2	3	1246	3	PCDH9	13	67800090	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	15795617	67800090	47369788	550	44336											
LMO7	4008	broad.mit.edu	37	chr13	76416988	76416988	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctttttctatcttttaggCctgttgattcctatgatata	5	7	3	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr13:76416988C>A	uc001vjv.2	+	22	4094	c.3334C>A	c.(3334-3336)CCT>ACT	p.P1112T	LMO7_uc010thv.1_Missense_Mutation_p.P1063T|LMO7_uc001vjt.1_Missense_Mutation_p.P1011T|LMO7_uc010thw.1_Missense_Mutation_p.P989T|LMO7_uc001vjw.1_Missense_Mutation_p.P1018T	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	1397						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATCTTTTAGGCCTGTTGATTC	0.333													A	76416988	C	A	76416988	3	1	61	1	0	0	0	0	1	0	0	0	8855	753	26	5	4291	5	LMO7	13	76416988	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	8616898	76416988	38752890	551	44337											
SCEL	8796	broad.mit.edu	37	chr13	78133954	78133954	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagatgaaaattacggTagggtggtgctcaaccgaca	13	7	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr13:78133954T>C	uc001vki.2	+	4	347	c.177T>C	c.(175-177)GGT>GGC	p.G59G	SCEL_uc001vkj.2_Silent_p.G59G|SCEL_uc010thx.1_Silent_p.G59G	NM_144777	NP_659001	O95171	SCEL_HUMAN	sciellin isoform 1	59					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			ovary(4)|breast(1)	5		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AAAATTACGGTAGGGTGGTGC	0.423													C	78133954	T	C	78133954	2	2	61	1	0	0	0	0	0	0	0	1	13888	1625	57	3		3	SCEL	13	78133954	Silent	SNP	T	TCGA-BR-8059-01A-11D-2340-08	1716966	78133954	37035924	552	44338											
RNF219	79596	broad.mit.edu	37	chr13	79190731	79190731	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagggacaaaggagtacaagGagctggaagatcataaagtt	13	4	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr13:79190731G>T	uc001vkw.1	-	6	1224	c.1165C>A	c.(1165-1167)CCT>ACT	p.P389T	uc001vku.1_RNA|RNF219_uc010afb.1_Missense_Mutation_p.P199T|RNF219_uc010afc.2_Intron	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	ring finger protein 219	389							zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GGAGTACAAGGAGCTGGAAGA	0.428													T	79190731	G	T	79190731	3	4	61	1	0	0	0	0	1	0	0	0	13482	1174	41	5	1019	5	RNF219	13	79190731	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1056777	79190731	35979147	553	44339											
ABCC4	10257	broad.mit.edu	37	chr13	95839089	95839089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggcaattcttccatgcaCgctgaccagcccgtgacttg	9	13	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr13:95839089C>T	uc001vmd.3	-	11	1530	c.1411G>A	c.(1411-1413)GTG>ATG	p.V471M	ABCC4_uc010afk.2_Missense_Mutation_p.V471M|ABCC4_uc001vme.2_Missense_Mutation_p.V471M|ABCC4_uc010tih.1_Missense_Mutation_p.V396M|ABCC4_uc001vmf.2_Missense_Mutation_p.V428M|ABCC4_uc010afl.1_Missense_Mutation_p.V428M|ABCC4_uc010afm.1_Missense_Mutation_p.V484M	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	471	ABC transporter 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CTTCCATGCACGCTGACCAGC	0.468													T	95839089	C	T	95839089	3	4	61	1	0	0	0	0	1	0	0	0	55	536	19	1	2699	1	ABCC4	13	95839089	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	16648358	95839089	19330789	554	44340											
MYO16	23026	broad.mit.edu	37	chr13	109507879	109507879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctatgagattcagaagcGctttgggaacaatcagatct	10	8	4	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr13:109507879G>A	uc001vqt.1	+	11	1397	c.1271G>A	c.(1270-1272)CGC>CAC	p.R424H	MYO16_uc010agk.1_Missense_Mutation_p.R446H|MYO16_uc001vqu.1_Missense_Mutation_p.R224H	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	424	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ATTCAGAAGCGCTTTGGGAAC	0.478													A	109507879	G	A	109507879	3	1	61	1	0	0	0	0	1	0	0	0	10064	1087	38	1	1309	1	MYO16	13	109507879	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	13668790	109507879	5661999	555	44341											
SOX1	6656	broad.mit.edu	37	chr13	112722172	112722172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcccgcgggcagcggcGcaagatggcccaggagaacc	17	13	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr13:112722172G>A	uc001vsb.1	+	1	260	c.200G>A	c.(199-201)CGC>CAC	p.R67H		NM_005986	NP_005977	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	67	HMG box.				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		GGGCAGCGGCGCAAGATGGCC	0.552													A	112722172	G	A	112722172	3	1	61	1	0	0	0	0	1	0	0	0	14940	1087	38	1	202	1	SOX1	13	112722172	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	3214293	112722172	2447706	556	44342											
RNASE9	390443	broad.mit.edu	37	chr14	21025068	21025068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtggtctggcgggccctGtactaaaaaatttttccaaa	10	8	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:21025068G>A	uc010aho.2	-	4	320	c.161C>T	c.(160-162)ACA>ATA	p.T54I	RNASE9_uc001vxq.3_Missense_Mutation_p.T59I|RNASE9_uc010ahp.2_Missense_Mutation_p.T59I|RNASE9_uc010ahq.2_Missense_Mutation_p.T59I|RNASE9_uc010ahr.2_Missense_Mutation_p.T59I|RNASE9_uc010ahs.2_Missense_Mutation_p.T54I|RNASE9_uc010aht.2_Missense_Mutation_p.T54I|RNASE9_uc010ahu.2_Missense_Mutation_p.T54I	NM_001110357	NP_001103827	P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	54						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			ovary(2)	2	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		GGCGGGCCCTGTACTAAAAAA	0.388													A	21025068	G	A	21025068	3	1	61	1	0	0	0	0	1	0	0	0	13410	1377	48	4	460	4	RNASE9	14	21025068	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08		21025068	86324472	557	44343											
RNASE12	493901	broad.mit.edu	37	chr14	21058544	21058544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggcagggtatcttgtGccttcaatgagctgacagac	12	10	2	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:21058544G>A	uc001vxt.2	-	1	439	c.339C>T	c.(337-339)GGC>GGT	p.G113G	RNASE11_uc010ahv.2_5'Flank|RNASE11_uc010ahx.2_5'Flank|RNASE11_uc010ahw.2_5'Flank|RNASE11_uc001vxs.2_5'Flank|uc001vxu.1_5'Flank	NM_001024822	NP_001019993	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	113						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		GGTATCTTGTGCCTTCAATGA	0.463													A	21058544	G	A	21058544	2	1	61	1	0	0	0	0	0	0	0	1	13402	1306	46	2		2	RNASE12	14	21058544	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	33476	21058544	86290996	558	44344											
LRRC16B	90668	broad.mit.edu	37	chr14	24528103	24528103	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccatctgctcaccagggttCgactcggacctcctgacact	8	17	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:24528103C>T	uc001wlj.2	+	19	1636	c.1479C>T	c.(1477-1479)TTC>TTT	p.F493F		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	493	LRR 9.									ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		CACCAGGGTTCGACTCGGACC	0.597											OREG0022615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	24528103	C	T	24528103	2	4	61	1	0	0	0	0	0	0	0	1	8972	883	31	1		1	LRRC16B	14	24528103	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	3469559	24528103	82821437	559	44345											
LRRC16B	90668	broad.mit.edu	37	chr14	24530829	24530829	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtgccccggaacttcAtccgaggggcactgctggag	13	13	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:24530829A>G	uc001wlj.2	+	27	2585	c.2428A>G	c.(2428-2430)ATC>GTC	p.I810V	LRRC16B_uc001wlk.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	810										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		CCGGAACTTCATCCGAGGGGC	0.602													G	24530829	A	G	24530829	3	3	61	1	0	0	0	0	1	0	0	0	8972	217	8	3	2534	3	LRRC16B	14	24530829	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	2726	24530829	82818711	560	44346											
HEATR5A	25938	broad.mit.edu	37	chr14	31856489	31856489	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtggctttagggtgtgaCggtgacgcaaggcttaggat	18	5	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:31856489C>T	uc001wrf.3	-	2	224	c.147G>A	c.(145-147)CCG>CCA	p.P49P	HEATR5A_uc010ami.2_5'UTR|HEATR5A_uc001wrg.1_5'UTR|HEATR5A_uc010tpk.1_Silent_p.P342P	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	336							binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TAGGGTGTGACGGTGACGCAA	0.433													T	31856489	C	T	31856489	2	4	61	1	0	0	0	0	0	0	0	1	7031	523	19	1		1	HEATR5A	14	31856489	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	7325660	31856489	75493051	561	44347											
ARHGAP5	394	broad.mit.edu	37	chr14	32563365	32563365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaaaaccttgtttagtaaaGccaagtcatactatagaaga	6	7	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:32563365G>A	uc001wrl.2	+	2	3729	c.3490G>A	c.(3490-3492)GCC>ACC	p.A1164T	ARHGAP5_uc001wrm.2_Missense_Mutation_p.A1164T|ARHGAP5_uc001wrn.2_Missense_Mutation_p.A1164T|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	1164					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GTTTAGTAAAGCCAAGTCATA	0.368													A	32563365	G	A	32563365	3	1	61	1	0	0	0	0	1	0	0	0	886	971	34	2	3492	2	ARHGAP5	14	32563365	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	706876	32563365	74786175	562	44348											
SNX6	58533	broad.mit.edu	37	chr14	35037081	35037082	+	Frame_Shift_Ins	INS	-	-	T													tgttttgcagactcagatatINStttttcaaatttctgacaac							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:35037080_35037081A>AT	uc001wsf.1	-	11	1104_1105	c.1096_1097T>AT	c.(1096-1098)atafs	p.I366fs	SNX6_uc001wse.1_Frame_Shift_Ins_p.I238fs|SNX6_uc010tpm.1_Frame_Shift_Ins_p.I242fs|SNX6_uc010amm.1_Frame_Shift_Ins_p.I242fs	NM_152233	NP_067072	Q9UNH7	SNX6_HUMAN	Homo sapiens sorting nexin 6 (SNX6), transcript variant 2, mRNA.	354					cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		AGACTCAGATATTTTTTCAAAT	0.297													T	35037082	-	T	35037081	7	5	61	1	0	1	1	0	0	0	0	0	14906	1493	52	0	172	0	SNX6	14	35037081	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	2473716	35037081	72312459	563	44349											
INSM2	84684	broad.mit.edu	37	chr14	36005050	36005050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctcgtgcaagcactgccCgtccactttttttagctctc	6	14	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:36005050C>T	uc001wth.1	+	1	1803	c.1592C>T	c.(1591-1593)CCG>CTG	p.P531L		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	531	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		AAGCACTGCCCGTCCACTTTT	0.627													T	36005050	C	T	36005050	3	4	61	1	0	0	0	0	1	0	0	0	7772	652	23	1	1594	1	INSM2	14	36005050	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	967969	36005050	71344490	564	44350											
SEC23A	10484	broad.mit.edu	37	chr14	39509940	39509940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattaacactacttacctggCtgcctccatgttcagtgtca	6	12	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:39509940C>T	uc001wup.1	-	18	2361	c.2138G>A	c.(2137-2139)AGC>AAC	p.S713N	SEC23A_uc010tqa.1_Missense_Mutation_p.S599N|SEC23A_uc010tqb.1_Missense_Mutation_p.S684N	NM_006364	NP_006355	Q15436	SC23A_HUMAN	SEC23-related protein A	713					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		ACTTACCTGGCTGCCTCCATG	0.418													T	39509940	C	T	39509940	3	4	61	1	0	0	0	0	1	0	0	0	13991	797	28	2	171	2	SEC23A	14	39509940	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	3504890	39509940	67839600	565	44351											
SEC23A	10484	broad.mit.edu	37	chr14	39517897	39517897	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaaaatctgaaggaacTtgggtcatctttatgatatt	8	5	4	3	rs148087647		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:39517897T>G	uc001wup.1	-	15	1919	c.1696A>C	c.(1696-1698)AGT>CGT	p.S566R	SEC23A_uc010tqa.1_Missense_Mutation_p.S428R|SEC23A_uc010tqb.1_Missense_Mutation_p.S537R	NM_006364	NP_006355	Q15436	SC23A_HUMAN	SEC23-related protein A	566					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CTGAAGGAACTTGGGTCATCT	0.259													G	39517897	T	G	39517897	3	3	61	1	0	0	0	0	1	0	0	0	13991	1609	56	5	625	5	SEC23A	14	39517897	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	7957	39517897	67831643	566	44352											
FSCB	84075	broad.mit.edu	37	chr14	44974445	44974445	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctcttctgcagtggtctcTtcacctgatggaggctgaag	12	11	4	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:44974445T>G	uc001wvn.2	-	1	2055	c.1746A>C	c.(1744-1746)GAA>GAC	p.E582D		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	582	Ala-rich.					cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		CAGTGGTCTCTTCACCTGATG	0.532													G	44974445	T	G	44974445	3	3	61	1	0	0	0	0	1	0	0	0	6066	1606	56	5	735	5	FSCB	14	44974445	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	5456548	44974445	62375095	567	44353											
FAM179B	23116	broad.mit.edu	37	chr14	45478227	45478227	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaatgaagctcgacttgAcgatggactccccgtctctg	10	13	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:45478227A>G	uc001wvv.2	+	6	3225	c.3016A>G	c.(3016-3018)ACG>GCG	p.T1006A	FAM179B_uc001wvw.2_Missense_Mutation_p.T1006A|FAM179B_uc010anc.2_Intron	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	1006	Ser-rich.						binding			skin(2)|upper_aerodigestive_tract(1)	3						GCTCGACTTGACGATGGACTC	0.438													G	45478227	A	G	45478227	3	3	61	1	0	0	0	0	1	0	0	0	5506	275	10	3	3038	3	FAM179B	14	45478227	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	503782	45478227	61871313	568	44354											
FANCM	57697	broad.mit.edu	37	chr14	45628389	45628389	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaaattgcagaaatgcTttcacagcatcagccaatta	6	9	3	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:45628389T>G	uc001wwd.3	+	9	1586	c.1487T>G	c.(1486-1488)CTT>CGT	p.L496R	FANCM_uc001wwc.2_Missense_Mutation_p.L496R|FANCM_uc010anf.2_Missense_Mutation_p.L470R|FANCM_uc001wwe.3_Missense_Mutation_p.L101R	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	496	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						GCAGAAATGCTTTCACAGCAT	0.398								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				G	45628389	T	G	45628389	3	3	61	1	0	0	0	0	1	0	0	0	5671	1609	56	5	1521	5	FANCM	14	45628389	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	150162	45628389	61721151	569	44355											
SPTB	6710	broad.mit.edu	37	chr14	65261234	65261234	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggtgatggccttcactttGtccccttggatggcgatgtc	13	11	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:65261234G>T	uc001xht.2	-	12	1800	c.1746C>A	c.(1744-1746)GAC>GAA	p.D582E	SPTB_uc001xhr.2_Missense_Mutation_p.D582E|SPTB_uc001xhs.2_Missense_Mutation_p.D582E|SPTB_uc001xhu.2_Missense_Mutation_p.D582E	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	582	Spectrin 3.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTTCACTTTGTCCCCTTGGA	0.542													T	65261234	G	T	65261234	3	4	61	1	0	0	0	0	1	0	0	0	15117	1368	48	5	5405	5	SPTB	14	65261234	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	19632845	65261234	42088306	570	44356											
GALNTL1	57452	broad.mit.edu	37	chr14	69791495	69791495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgttccaccctgctgcGcacagtgaagaggtaagtcc	12	14	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:69791495G>A	uc010aqu.1	+	3	515	c.422G>A	c.(421-423)CGC>CAC	p.R141H	GALNTL1_uc001xla.1_Missense_Mutation_p.R141H|GALNTL1_uc001xlb.1_Missense_Mutation_p.R141H	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	141	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)	2				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		ACCCTGCTGCGCACAGTGAAG	0.602													A	69791495	G	A	69791495	3	1	61	1	0	0	0	0	1	0	0	0	6221	1087	38	1	432	1	GALNTL1	14	69791495	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	4530261	69791495	37558045	571	44357											
GALNTL1	57452	broad.mit.edu	37	chr14	69800300	69800301	+	Frame_Shift_Ins	INS	-	-	G													gatgcccagatggacatctgINSggggggagagaattttggtg					rs144140025		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:69800299_69800300T>TG	uc001xlb.2	+	8	1276_1277	c.949_950T>TG	c.(949-951)tggfs	p.W317fs	GALNTL1_uc001xla.2_Frame_Shift_Ins_p.W317fs|GALNTL1_uc010aqu.2_Frame_Shift_Ins_p.W317fs	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	317	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		GATGGACATCTGGGGGGGAGAG	0.47													G	69800301	-	G	69800300	7	5	61	1	0	1	1	0	0	0	0	0	6221	1357	47	0	984	0	GALNTL1	14	69800300	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	8805	69800300	37549240	572	44358											
PAPLN	89932	broad.mit.edu	37	chr14	73730934	73730934	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaggcacaggctgcagttCgacggatccctgatcatcca	10	14	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:73730934C>T	uc010ttx.1	+	20	3040	c.2877C>T	c.(2875-2877)TTC>TTT	p.F959F	PAPLN_uc001xnw.3_Silent_p.F932F|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.F943F|PAPLN_uc010arm.2_Silent_p.F158F|PAPLN_uc010arn.2_Silent_p.F159F	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	959	Ig-like C2-type 1.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GGCTGCAGTTCGACGGATCCC	0.652													T	73730934	C	T	73730934	2	4	61	1	0	0	0	0	0	0	0	1	11428	883	31	1		1	PAPLN	14	73730934	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	3930634	73730934	33618606	573	44359											
C14orf102	55051	broad.mit.edu	37	chr14	90783061	90783061	+	Frame_Shift_Del	DEL	T	T	-													cttatgatgctgatgcttccTttttttctttttctctttct							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:90783060_90783060CT>C	uc001xyi.2	-	2	502	c.269_269AG>G	c.(268-270)aggfs	p.R90fs	C14orf102_uc001xyj.2_Intron	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	90	Lys-rich.|Poly-Lys.						protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		ctgatgcttcctttttttctt	0.398													-	90783061	T	-	90783061	7	5	61	1	0	1	0	1	0	0	0	0	1735	1608	56	0	3274	0	C14orf102	14	90783061	Frame_Shift_Del	DEL	T	TCGA-BR-8059-01A-11D-2340-08	17052127	90783061	16566479	574	44360											
TRIP11	9321	broad.mit.edu	37	chr14	92472015	92472015	+	Missense_Mutation	SNP	G	G	T													tatttccatgtctttcttttGattgagtttaattaaatgct							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:92472015G>T	uc001xzy.2	-	11	3093	c.2305C>A	c.(2305-2307)CAA>AAA	p.Q769K	TRIP11_uc010auf.1_Missense_Mutation_p.Q505K	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	769	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		TCTTTCTTTTGATTGAGTTTA	0.333			T	PDGFRB	AML								T	92472015	G	T	92472015	3	4	61	1	0	0	0	0	1	0	0	0	16552	1299	45	5	3678	5	TRIP11	14	92472015	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1688954	92472015	14877525	575	44361	156	2									
TRIP11	9321	broad.mit.edu	37	chr14	92472025	92472025	+	Silent	SNP	A	A	G													tctttcttttgattgagtttAattaaatgctcatgttccag							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:92472025A>G	uc001xzy.2	-	11	3083	c.2295T>C	c.(2293-2295)ATT>ATC	p.I765I	TRIP11_uc010auf.1_Silent_p.I501I	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	765	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		GATTGAGTTTAATTAAATGCT	0.338			T	PDGFRB	AML								G	92472025	A	G	92472025	2	3	61	1	0	0	0	0	0	0	0	1	16552	358	13	3		3	TRIP11	14	92472025	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	10	92472025	14877515	576	44362	156	2									
GOLGA5	9950	broad.mit.edu	37	chr14	93264325	93264325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttttgggagccaaacccaCggtagttaatcagtcctctt	8	11	3	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:93264325C>T	uc001yaz.1	+	2	725	c.543C>T	c.(541-543)CAC>CAT	p.H181H		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	181	Cytoplasmic (Potential).				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GCCAAACCCACGGTAGTTAAT	0.398			T	RET	papillary thyroid								T	93264325	C	T	93264325	2	4	61	1	0	0	0	0	0	0	0	1	6556	550	19	1		1	GOLGA5	14	93264325	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	792300	93264325	14085215	577	44363											
ITPK1	3705	broad.mit.edu	37	chr14	93483104	93483104	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcagcttgtggatgatgaCgtccagggggccctgctcct	14	11	1	2	rs143953605	byFrequency	TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:93483104C>A	uc001ybg.2	-	4	452	c.163G>T	c.(163-165)GTC>TTC	p.V55F	ITPK1_uc001ybe.2_Missense_Mutation_p.V55F|ITPK1_uc001ybf.2_5'UTR|ITPK1_uc001ybh.2_Missense_Mutation_p.V55F	NM_014216	NP_055031	Q13572	ITPK1_HUMAN	inositol 1,3,4-triphosphate 5/6 kinase isoform	55					blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding				0		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		TGGATGATGACGTCCAGGGGG	0.582													A	93483104	C	A	93483104	3	1	61	1	0	0	0	0	1	0	0	0	7916	536	19	5	1161	5	ITPK1	14	93483104	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	218779	93483104	13866436	578	44364											
BAG5	9529	broad.mit.edu	37	chr14	104026975	104026975	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cggaaggatgtgcatcctcgGaaagcggcagggaaggctgc	17	9	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:104026975G>C	uc001yni.1	-	2	761	c.527C>G	c.(526-528)TCC>TGC	p.S176C	KLC1_uc010tyd.1_5'Flank|BAG5_uc001ynh.1_Missense_Mutation_p.S217C|BAG5_uc001ynj.1_Missense_Mutation_p.S176C|C14orf153_uc001ynl.3_5'Flank|C14orf153_uc010tyc.1_5'Flank	NM_004873	NP_004864	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5 isoform b	176					apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			ovary(2)	2		Melanoma(154;0.155)	Epithelial(46;0.144)			TGCATCCTCGGAAAGCGGCAG	0.493													C	104026975	G	C	104026975	3	2	61	1	0	0	0	0	1	0	0	0	1290	1174	41	5	820	5	BAG5	14	104026975	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	10543871	104026975	3322565	579	44365											
ZFYVE21	79038	broad.mit.edu	37	chr14	104194223	104194223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaggaggcggagttctaCgacaagcagctcaaagtgct	12	10	3	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:104194223C>T	uc001yoc.2	+	3	364	c.330C>T	c.(328-330)TAC>TAT	p.Y110Y	ZFYVE21_uc001yod.2_Silent_p.Y110Y	NM_024071	NP_076976	Q9BQ24	ZFY21_HUMAN	zinc finger, FYVE domain containing 21	110						cytoplasmic membrane-bounded vesicle|focal adhesion	metal ion binding				0		Melanoma(154;0.226)		Epithelial(152;0.245)		CGGAGTTCTACGACAAGCAGC	0.672													T	104194223	C	T	104194223	2	4	61	1	0	0	0	0	0	0	0	1	17664	547	19	1		1	ZFYVE21	14	104194223	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	167248	104194223	3155317	580	44366											
PPP1R13B	23368	broad.mit.edu	37	chr14	104205315	104205315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccggactctcagcccgtGccccgtccgctccgagttgg	11	17	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr14:104205315G>A	uc001yof.1	-	13	2921	c.2638C>T	c.(2638-2640)CAC>TAC	p.H880Y	PPP1R13B_uc010awv.1_RNA	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	880					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CTCAGCCCGTGCCCCGTCCGC	0.552													A	104205315	G	A	104205315	3	1	61	1	0	0	0	0	1	0	0	0	12357	1319	46	2	654	2	PPP1R13B	14	104205315	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	11092	104205315	3144225	581	44367											
MAGEL2	54551	broad.mit.edu	37	chr15	23890249	23890249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggtggccttgccggagcGgcgtggcggctcgacggagg	21	12	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr15:23890249G>A	uc001ywj.3	-	1	927	c.832C>T	c.(832-834)CGC>TGC	p.R278C		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TTGCCGGAGCGGCGTGGCGGC	0.652													A	23890249	G	A	23890249	3	1	61	1	0	0	0	0	1	0	0	0	9189	1116	39	1	1112	1	MAGEL2	15	23890249	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08		23890249	78641143	582	44368											
UBE3A	7337	broad.mit.edu	37	chr15	25616247	25616247	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atggcatcatcatcattcacTagatttcgactgttaaattc	5	9	4	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr15:25616247T>A	uc001zaq.2	-	4	1083	c.1083A>T	c.(1081-1083)CTA>CTT	p.L361L	uc001zae.2_Intron|UBE3A_uc001zar.2_Silent_p.L338L|UBE3A_uc001zas.2_Silent_p.L358L|UBE3A_uc001zat.2_Silent_p.L338L	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	361					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CATCATTCACTAGATTTCGAC	0.378													A	25616247	T	A	25616247	2	1	61	1	0	0	0	0	0	0	0	1	16876	1509	53	5		5	UBE3A	15	25616247	Silent	SNP	T	TCGA-BR-8059-01A-11D-2340-08	1725998	25616247	76915145	583	44369											
ATP10A	57194	broad.mit.edu	37	chr15	25953353	25953353	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccccactcactctcttggcGatgcacaaggtgcgcaggcc	10	17	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr15:25953353G>A	uc010ayu.2	-	11	2545	c.2439C>T	c.(2437-2439)ATC>ATT	p.I813I		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	813	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTCTCTTGGCGATGCACAAGG	0.582													A	25953353	G	A	25953353	2	1	61	1	0	0	0	0	0	0	0	1	1116	1048	37	1		1	ATP10A	15	25953353	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	337106	25953353	76578039	584	44370											
MAPKBP1	23005	broad.mit.edu	37	chr15	42105153	42105153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgctgggccgctcagggCtgctgggagagctacggaac	16	12	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr15:42105153C>T	uc001zok.3	+	8	959	c.673C>T	c.(673-675)CTG>TTG	p.L225L	MAPKBP1_uc001zoj.3_Silent_p.L225L|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Silent_p.L225L|MAPKBP1_uc010udb.1_Silent_p.L113L|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	225										central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCGCTCAGGGCTGCTGGGAGA	0.607													T	42105153	C	T	42105153	2	4	61	1	0	0	0	0	0	0	0	1	9292	796	28	2		2	MAPKBP1	15	42105153	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	16151800	42105153	60426239	585	44371											
PLA2G4F	255189	broad.mit.edu	37	chr15	42434768	42434768	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtacggttaaccagggggaAgtgcagcacaatgggggagc	18	7	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr15:42434768A>C	uc001zoz.2	-	19	2350	c.2287T>G	c.(2287-2289)TTC>GTC	p.F763V	PLA2G4F_uc010bcq.2_Missense_Mutation_p.F60V|PLA2G4F_uc001zoy.2_Missense_Mutation_p.F395V|PLA2G4F_uc010bcr.2_Missense_Mutation_p.F514V|PLA2G4F_uc001zpa.2_Missense_Mutation_p.F514V|PLA2G4F_uc010bcs.2_Missense_Mutation_p.F550V	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	763	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			ovary(4)	4		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		ACCAGGGGGAAGTGCAGCACA	0.632													C	42434768	A	C	42434768	3	2	61	1	0	0	0	0	1	0	0	0	12006	72	3	5	270	5	PLA2G4F	15	42434768	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	329615	42434768	60096624	586	44372											
DUOX2	50506	broad.mit.edu	37	chr15	45392986	45392986	+	Frame_Shift_Del	DEL	C	C	-													tcttcttcagtccagggcctCccagctctggggcttctggg							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr15:45392985_45392985TC>T	uc001zun.3	-	22	3176	c.2973_2973GA>A	c.(2971-2973)ggafs	p.G991fs	DUOX2_uc010bea.3_Frame_Shift_Del_p.G991fs	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	991	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity	p.G991E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GTCCAGGGCCTCCCAGCTCTG	0.592													-	45392986	C	-	45392986	7	5	61	1	0	1	0	1	0	0	0	0	4801	855	30	0	1722	0	DUOX2	15	45392986	Frame_Shift_Del	DEL	C	TCGA-BR-8059-01A-11D-2340-08	2958218	45392986	57138406	587	44373											
VPS13C	54832	broad.mit.edu	37	chr15	62214654	62214654	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccaatttttaatatttcctGaaaacttagactctgccaat	3	9	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr15:62214654G>A	uc002agz.2	-	54	6991	c.6917C>T	c.(6916-6918)TCA>TTA	p.S2306L	VPS13C_uc002aha.2_Missense_Mutation_p.S2263L|VPS13C_uc002ahb.1_Missense_Mutation_p.S2306L|VPS13C_uc002ahc.1_Missense_Mutation_p.S2263L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2306					protein localization					ovary(2)	2						AATATTTCCTGAAAACTTAGA	0.393													A	62214654	G	A	62214654	3	1	61	1	0	0	0	0	1	0	0	0	17188	1294	45	4	4500	4	VPS13C	15	62214654	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	16821668	62214654	40316738	588	44374											
TRIP4	9325	broad.mit.edu	37	chr15	64689829	64689831	+	In_Frame_Del	DEL	AAG	AAG	-													aagagaacagcaactccgtaAagaagaagacaaagtttgtc							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr15:64689828_64689830AAAG>A	uc002anm.3	+	3	489_491	c.429_431AAAG>A	c.(427-432)gtaaag>gtAg	p.K146del		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 4 (TRIP4), mRNA.	146					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						GCAACTCCGTAAAGAAGAAGACA	0.429													-	64689831	AAG	-	64689829	7	5	61	1	0	1	0	1	0	0	0	0	16555	15	1	0	444	0	TRIP4	15	64689829	In_Frame_Del	DEL	AAG	TCGA-BR-8059-01A-11D-2340-08	2475175	64689829	37841563	589	44375											
PLEKHO2	80301	broad.mit.edu	37	chr15	65157548	65157548	+	Frame_Shift_Del	DEL	C	C	-													agggtgggaagccccctacaCccccacccaagatcttatca							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr15:65157547_65157547AC>A	uc002anv.3	+	5	1067	c.933_933AC>A	c.(931-933)acafs	p.T311fs	PLEKHO2_uc002anw.3_Frame_Shift_Del_p.T261fs	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 2 (PLEKHO2), transcript variant 1, mRNA.	311	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGCCCCCTACACCCCCACCCA	0.617													-	65157548	C	-	65157548	7	5	61	1	0	1	0	1	0	0	0	0	12085	507	18	0	956	0	PLEKHO2	15	65157548	Frame_Shift_Del	DEL	C	TCGA-BR-8059-01A-11D-2340-08	467719	65157548	37373844	590	44376											
CILP	8483	broad.mit.edu	37	chr15	65495770	65495770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgctctgcccagctctccGtgcttttgtctcagggttca	9	15	4	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr15:65495770G>A	uc002aon.2	-	7	1139	c.958C>T	c.(958-960)CGG>TGG	p.R320W		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	320	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						CCAGCTCTCCGTGCTTTTGTC	0.493													A	65495770	G	A	65495770	3	1	61	1	0	0	0	0	1	0	0	0	3429	1144	40	1	2608	1	CILP	15	65495770	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	338222	65495770	37035622	591	44377											
ZWILCH	55055	broad.mit.edu	37	chr15	66829594	66829594	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caactgctgtaaagaacttaTatcaaaggtaagcaattttt	6	6	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr15:66829594T>C	uc002aqb.2	+	16	1813	c.1567T>C	c.(1567-1569)TAT>CAT	p.Y523H	ZWILCH_uc010bhu.1_Missense_Mutation_p.Y409H|ZWILCH_uc002aqa.2_Missense_Mutation_p.Y409H|ZWILCH_uc010bhv.2_Missense_Mutation_p.Y409H	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN	Zwilch	523					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			ovary(1)	1						AAAGAACTTATATCAAAGGTA	0.204													C	66829594	T	C	66829594	3	2	61	1	0	0	0	0	1	0	0	0	18245	1406	49	3	1629	3	ZWILCH	15	66829594	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	1333824	66829594	35701798	592	44378											
PARP6	56965	broad.mit.edu	37	chr15	72552998	72552998	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctagtttgcctttcagcaTggagtcctgtatgataggga	11	8	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr15:72552998T>C	uc002auc.2	-	9	1036	c.577A>G	c.(577-579)ATG>GTG	p.M193V	PARP6_uc002aua.2_Missense_Mutation_p.M58V|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.M193V	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	193							NAD+ ADP-ribosyltransferase activity				0						CCTTTCAGCATGGAGTCCTGT	0.507													C	72552998	T	C	72552998	3	2	61	1	0	0	0	0	1	0	0	0	11464	1464	51	3	1375	3	PARP6	15	72552998	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	5723404	72552998	29978394	593	44379											
SNX33	257364	broad.mit.edu	37	chr15	75942116	75942116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtggcccccagtggaagGccaatccccacccatttgcc	9	18	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr15:75942116G>A	uc002bau.2	+	1	769	c.673G>A	c.(673-675)GCC>ACC	p.A225T	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'UTR	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	sorting nexin 33	225					cell communication		phosphatidylinositol binding|protein binding			ovary(1)	1						CCAGTGGAAGGCCAATCCCCA	0.547													A	75942116	G	A	75942116	3	1	61	1	0	0	0	0	1	0	0	0	14903	1203	42	2	675	2	SNX33	15	75942116	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	3389118	75942116	26589276	594	44380											
FAH	2184	broad.mit.edu	37	chr15	80450431	80450431	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggataggtgtggccattggCgaccagatcctggacctcag	14	10	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr15:80450431C>T	uc002bfj.2	+	3	193	c.111C>T	c.(109-111)GGC>GGT	p.G37G	FAH_uc002bfk.1_Silent_p.G37G|FAH_uc002bfm.1_Silent_p.G37G|FAH_uc002bfn.1_5'UTR|FAH_uc010unl.1_Silent_p.G37G|FAH_uc002bfl.1_Silent_p.G37G	NM_000137	NP_000128	P16930	FAAA_HUMAN	fumarylacetoacetase	37					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding				0						TGGCCATTGGCGACCAGATCC	0.527									Tyrosinemia_type_1				T	80450431	C	T	80450431	2	4	61	1	0	0	0	0	0	0	0	1	5371	755	27	1		1	FAH	15	80450431	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	4508315	80450431	22080961	595	44381											
KIAA1199	57214	broad.mit.edu	37	chr15	81201537	81201537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgattcacttccacctggccGgtgatgtagacgaaagggga	13	10	1	2	rs147046826		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr15:81201537G>A	uc002bfw.1	+	13	1947	c.1687G>A	c.(1687-1689)GGT>AGT	p.G563S	KIAA1199_uc010unn.1_Missense_Mutation_p.G563S	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	563				HFHLAGD -> TRPPTRP (in Ref. 5; CAB94391).						upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						CCACCTGGCCGGTGATGTAGA	0.547													A	81201537	G	A	81201537	3	1	61	1	0	0	0	0	1	0	0	0	8213	1116	39	1	1733	1	KIAA1199	15	81201537	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	751106	81201537	21329855	596	44382											
TMC3	342125	broad.mit.edu	37	chr15	81650758	81650758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacccccagagaccagacGgtgtccaggtcttgggcaga	12	14	2	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr15:81650758G>A	uc002bgo.1	-	6	585	c.585C>T	c.(583-585)ACC>ACT	p.T195T	TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Silent_p.T195T	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	195	Helical; (Potential).					integral to membrane				ovary(1)|liver(1)	2						GAGACCAGACGGTGTCCAGGT	0.567													A	81650758	G	A	81650758	2	1	61	1	0	0	0	0	0	0	0	1	15983	1103	39	1		1	TMC3	15	81650758	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	449221	81650758	20880634	597	44383											
BNC1	646	broad.mit.edu	37	chr15	83932879	83932879	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtggacggcattgtagTggattttgagggtgcctttg	15	5	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr15:83932879T>G	uc002bjt.1	-	4	1212	c.1124A>C	c.(1123-1125)CAC>CCC	p.H375P	BNC1_uc010uos.1_Missense_Mutation_p.H363P	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	375	C2H2-type 1.				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						GGCATTGTAGTGGATTTTGAG	0.502													G	83932879	T	G	83932879	3	3	61	1	0	0	0	0	1	0	0	0	1474	1696	59	5	1868	5	BNC1	15	83932879	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	2282121	83932879	18598513	598	44384											
NTRK3	4916	broad.mit.edu	37	chr15	88679770	88679770	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggtgatccagagccattGcaagtgataacagcgttgtc	13	8	0	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr15:88679770G>A	uc002bme.1	-	7	855	c.693C>T	c.(691-693)TGC>TGT	p.C231C	NTRK3_uc002bmh.2_Silent_p.C231C|NTRK3_uc002bmf.1_Silent_p.C231C|NTRK3_uc010upl.1_Silent_p.C133C|NTRK3_uc010bnh.1_Silent_p.C231C|NTRK3_uc002bmg.2_Silent_p.C231C	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	231	Ig-like C2-type 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAGAGCCATTGCAAGTGATAA	0.552			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			A	88679770	G	A	88679770	2	1	61	1	0	0	0	0	0	0	0	1	10708	1311	46	2		2	NTRK3	15	88679770	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	4746891	88679770	13851622	599	44385											
FBXL16	146330	broad.mit.edu	37	chr16	744686	744686	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gccaggaggtgcttcagcccGaagtcttgcacctgtcggga	14	12	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:744686G>C	uc002cjc.2	-	6	1442	c.1239C>G	c.(1237-1239)TTC>TTG	p.F413L	FBXL16_uc002cja.2_Missense_Mutation_p.S165W|FBXL16_uc002cjb.2_Missense_Mutation_p.F201L	NM_153350	NP_699181	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	413	LRR 6.										0		Hepatocellular(780;0.0218)				GCTTCAGCCCGAAGTCTTGCA	0.652													C	744686	G	C	744686	3	2	61	1	0	0	0	0	1	0	0	0	5712	1049	37	5	208	5	FBXL16	16	744686	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08		744686	89610067	600	44386											
NARFL	64428	broad.mit.edu	37	chr16	789666	789666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttaatttggaagtagctccCgtcatcttcaatgcgaatct	8	9	4	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:789666C>T	uc002cjr.2	-	2	151	c.139G>A	c.(139-141)GGG>AGG	p.G47R	NARFL_uc002cjp.2_5'Flank|NARFL_uc002cjq.2_5'UTR|NARFL_uc002cjs.2_5'UTR|NARFL_uc010brc.1_Missense_Mutation_p.G47R|NARFL_uc010uur.1_Missense_Mutation_p.G47R	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	47					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding				0		Hepatocellular(780;0.0218)				AAGTAGCTCCCGTCATCTTCA	0.532													T	789666	C	T	789666	3	4	61	1	0	0	0	0	1	0	0	0	10168	652	23	1	1331	1	NARFL	16	789666	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	44980	789666	89565087	601	44387											
CLCN7	1186	broad.mit.edu	37	chr16	1498392	1498392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctccaccacggggaagccGttgtgattggacgccgtgtc	14	12	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:1498392G>A	uc002clv.2	-	21	2087	c.1977C>T	c.(1975-1977)AAC>AAT	p.N659N	CLCN7_uc010brq.1_Silent_p.N29N|CLCN7_uc002clu.2_Silent_p.N107N|CLCN7_uc002clw.2_Silent_p.N635N	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	659	Cytoplasmic (By similarity).|CBS 1.|ATP (By similarity).					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)				CGGGGAAGCCGTTGTGATTGG	0.627													A	1498392	G	A	1498392	2	1	61	1	0	0	0	0	0	0	0	1	3468	1136	40	1		1	CLCN7	16	1498392	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	708726	1498392	88856361	602	44388											
CASKIN1	57524	broad.mit.edu	37	chr16	2239107	2239107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggtggcgtctcccggccGgggctccagcagcgccgcac	16	17	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:2239107G>A	uc010bsg.1	-	6	570	c.538C>T	c.(538-540)CGG>TGG	p.R180W		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	180					signal transduction	cytoplasm				skin(2)	2						TCTCCCGGCCGGGGCTCCAGC	0.652													A	2239107	G	A	2239107	3	1	61	1	0	0	0	0	1	0	0	0	2666	1115	39	1	3817	1	CASKIN1	16	2239107	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	740715	2239107	88115646	603	44389											
CASKIN1	57524	broad.mit.edu	37	chr16	2240163	2240163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagggccgcatggtgcagaGccgagaagctggcacgtgca	16	11	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:2240163G>A	uc010bsg.1	-	3	187	c.155C>T	c.(154-156)GCT>GTT	p.A52V		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	52	ANK 1.				signal transduction	cytoplasm				skin(2)	2						ATGGTGCAGAGCCGAGAAGCT	0.647													A	2240163	G	A	2240163	3	1	61	1	0	0	0	0	1	0	0	0	2666	971	34	2	4212	2	CASKIN1	16	2240163	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1056	2240163	88114590	604	44390											
NTN3	4917	broad.mit.edu	37	chr16	2522136	2522136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccatggccgcagctgggCcccgctgggcttcttctcct	13	16	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:2522136C>T	uc002cqj.2	+	1	637	c.434C>T	c.(433-435)GCC>GTC	p.A145V		NM_006181	NP_006172	O00634	NET3_HUMAN	netrin 3 precursor	145	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				central_nervous_system(1)	1						CGCAGCTGGGCCCCGCTGGGC	0.667													T	2522136	C	T	2522136	3	4	61	1	0	0	0	0	1	0	0	0	10701	739	26	2	436	2	NTN3	16	2522136	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	281973	2522136	87832617	605	44391											
ADCY9	115	broad.mit.edu	37	chr16	4057518	4057518	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcacagctgcagcgagActccttggctctctgacccg	10	16	2	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:4057518A>T	uc002cvx.2	-	3	2274	c.1735T>A	c.(1735-1737)TCT>ACT	p.S579T		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	579	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						CTGCAGCGAGACTCCTTGGCT	0.527													T	4057518	A	T	4057518	3	4	61	1	0	0	0	0	1	0	0	0	301	275	10	5	2362	5	ADCY9	16	4057518	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	1535382	4057518	86297235	606	44392											
TXNDC11	51061	broad.mit.edu	37	chr16	11794372	11794372	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtactaaggataccagtttcGcaagatgtttatttgtgata	9	5	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:11794372G>C	uc010buu.1	-	7	985	c.923C>G	c.(922-924)GCG>GGG	p.A308G	TXNDC11_uc002dbg.1_Missense_Mutation_p.A281G	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	308					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						TACCAGTTTCGCAAGATGTTT	0.333													C	11794372	G	C	11794372	3	2	61	1	0	0	0	0	1	0	0	0	16789	1087	38	5	2062	5	TXNDC11	16	11794372	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	7736854	11794372	78560381	607	44393											
ABCC6	368	broad.mit.edu	37	chr16	16297439	16297439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccttcatgccactgccgcCtttccttttaaatgctattg	6	13	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:16297439C>T	uc002den.3	-	8	863	c.826G>A	c.(826-828)GGC>AGC	p.G276S	ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Missense_Mutation_p.G288S	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	276	Cytoplasmic (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CCACTGCCGCCTTTCCTTTTA	0.582													T	16297439	C	T	16297439	3	4	61	1	0	0	0	0	1	0	0	0	57	681	24	4	3781	4	ABCC6	16	16297439	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	4503067	16297439	74057314	608	44394											
VWA3A	146177	broad.mit.edu	37	chr16	22137565	22137566	+	In_Frame_Ins	INS	-	-	GCG													ttcatatccagcactccctgINScggctgctgctggaggagca							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:22137564_22137565T>TGCG	uc010vbq.2	+	16	1694_1695	c.1598_1599T>TGCG	c.(1597-1599)ctg>cTGCG	p.L533L	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_In_Frame_Ins_p.L541L	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	533	VWFA 1.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CAGCACTCCCTGCGGCTGCTGC	0.51													GCG	22137566	-	GCG	22137565	7	5	61	1	0	1	1	0	0	0	0	0	17237	1306	46	0	1665	0	VWA3A	16	22137565	In_Frame_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	5840126	22137565	68217188	609	44395											
ATXN2L	11273	broad.mit.edu	37	chr16	28844622	28844622	+	Frame_Shift_Del	DEL	C	C	-													tgtccaagccaaactggcagCcccccggtgggcctcatcaa							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:28844621_28844621GC>G	uc002dqy.3	+	13	2068	c.1901_1901GC>G	c.(1900-1902)agcfs	p.S634fs	NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Frame_Shift_Del_p.S610fs|ATXN2L_uc002dqz.3_Frame_Shift_Del_p.S634fs|ATXN2L_uc002dra.3_Frame_Shift_Del_p.S634fs|ATXN2L_uc002drb.3_Frame_Shift_Del_p.S634fs|ATXN2L_uc002drc.3_Frame_Shift_Del_p.S634fs|ATXN2L_uc010vdb.2_Frame_Shift_Del_p.S640fs|ATXN2L_uc002dre.3_Frame_Shift_Del_p.S634fs|ATXN2L_uc002drf.3_Frame_Shift_Del_p.S43fs|ATXN2L_uc002drg.3_5'Flank	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	634						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CAAACTGGCAGCCCCCCGGTG	0.627													-	28844622	C	-	28844622	7	5	61	1	0	1	0	1	0	0	0	0	1212	738	26	0	1956	0	ATXN2L	16	28844622	Frame_Shift_Del	DEL	C	TCGA-BR-8059-01A-11D-2340-08	6707057	28844622	61510131	610	44396											
MVP	9961	broad.mit.edu	37	chr16	29845368	29845368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagtgctgggaccgggaCggcaaggagagggtgacagg	21	6	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:29845368C>T	uc002dui.2	+	5	642	c.558C>T	c.(556-558)GAC>GAT	p.D186D	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.1_RNA|MVP_uc010vdz.1_Intron|MVP_uc002duj.2_Silent_p.D186D|MVP_uc010vea.1_Translation_Start_Site	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	186	MVP 4.				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						GGGACCGGGACGGCAAGGAGA	0.647													T	29845368	C	T	29845368	2	4	61	1	0	0	0	0	0	0	0	1	9996	535	19	1		1	MVP	16	29845368	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1000746	29845368	60509385	611	44397											
ZNF267	10308	broad.mit.edu	37	chr16	31925888	31925888	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgaggagacatgggagctgTgatcttgagaatttacattt	12	5	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:31925888T>C	uc002ecs.3	+	4	527	c.318T>C	c.(316-318)TGT>TGC	p.C106C		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	106					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						ATGGGAGCTGTGATCTTGAGA	0.378													C	31925888	T	C	31925888	2	2	61	1	0	0	0	0	0	0	0	1	17803	1702	59	3		3	ZNF267	16	31925888	Silent	SNP	T	TCGA-BR-8059-01A-11D-2340-08	2080520	31925888	58428865	612	44398											
C16orf78	123970	broad.mit.edu	37	chr16	49433085	49433085	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acattcggaccttgctcaagTtgtgcaaggatgcaggaatg	12	8	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:49433085T>G	uc002efr.2	+	5	737	c.694T>G	c.(694-696)TTG>GTG	p.L232V		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	hypothetical protein LOC123970	232										central_nervous_system(1)	1						CTTGCTCAAGTTGTGCAAGGA	0.483													G	49433085	T	G	49433085	3	3	61	1	0	0	0	0	1	0	0	0	1835	1722	60	5	712	5	C16orf78	16	49433085	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	17507197	49433085	40921668	613	44399											
CYLD	1540	broad.mit.edu	37	chr16	50825519	50825519	+	Frame_Shift_Del	DEL	A	A	-													cttctatcaaatttttatggAaaaaaatgagaaagttggcg							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:50825518_50825518GA>G	uc021tib.1	+	12	2281	c.2158_2158GA>G	c.(2158-2160)gaafs	p.E720fs	CYLD_uc010cbs.1_Frame_Shift_Del_p.E717fs|CYLD_uc002egp.1_Frame_Shift_Del_p.E717fs|CYLD_uc002egq.1_Frame_Shift_Del_p.E717fs|CYLD_uc002egr.1_Frame_Shift_Del_p.E717fs|CYLD_uc021tic.1_Non-coding_Transcript	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	720					Wnt receptor signaling pathway|cell cycle|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AATTTTTATGGAAAAAAATGA	0.333			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				-	50825519	A	-	50825519	7	5	61	1	0	1	0	1	0	0	0	0	4143	246	9	0	2209	0	CYLD	16	50825519	Frame_Shift_Del	DEL	A	TCGA-BR-8059-01A-11D-2340-08	1392434	50825519	39529234	614	44400											
CDH11	1009	broad.mit.edu	37	chr16	65005503	65005503	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggttgtctctgactgtgaAatttggattgtgaatgattt	11	4	1	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:65005503A>G	uc002eoi.2	-	11	2055	c.1621T>C	c.(1621-1623)TTC>CTC	p.F541L	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.F541L|CDH11_uc010vin.1_Missense_Mutation_p.F415L	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	541	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTGACTGTGAAATTTGGATTG	0.413			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			G	65005503	A	G	65005503	3	3	61	1	0	0	0	0	1	0	0	0	3097	14	1	3	781	3	CDH11	16	65005503	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	14179984	65005503	25349250	615	44401											
TPPP3	51673	broad.mit.edu	37	chr16	67424841	67424856	+	Frame_Shift_Del	DEL	GACGATGTCCACATCG	GACGATGTCCACATCG	-													gctcacttgactttggagaaGacgatgtccacatcggtccc					rs144127847		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:67424840_67424855AGACGATGTCCACATCG>A	uc002etb.3	-	1	305_320	c.160_175CGATGTGGACATCGTCT>T	c.(160-177)gatgtggacatcgtcttcfs	p.D54fs	TPPP3_uc002esz.3_Frame_Shift_Del_p.D54fs|TPPP3_uc002eta.3_Frame_Shift_Del_p.D54fs|U1_uc021tkb.1_5'Flank	NM_015964	NP_057224	Q9BW30	TPPP3_HUMAN	Homo sapiens tubulin polymerization-promoting protein family member 3 (TPPP3), mRNA.	54				GTD -> TP (in Ref. 2; AAD44478).	microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		ACTTTGGAGAAGACGATGTCCACATCGGTCCCTGTC	0.583													-	67424856	GACGATGTCCACATCG	-	67424841	7	5	61	1	0	1	0	1	0	0	0	0	16412	929	33	0	368	0	TPPP3	16	67424841	Frame_Shift_Del	DEL	GACGATGTCCACATCG	TCGA-BR-8059-01A-11D-2340-08	2419338	67424841	22929912	616	44402											
NUTF2	10204	broad.mit.edu	37	chr16	67899125	67899125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatagaacccaactaggcgCaatttacgtaagtttccagc	8	10	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:67899125C>T	uc002eup.2	+	2	191	c.92C>T	c.(91-93)GCA>GTA	p.A31V	NUTF2_uc010vkf.1_Missense_Mutation_p.A31V	NM_005796	NP_005787	P61970	NTF2_HUMAN	nuclear transport factor 2	31	NTF2.				protein transport	cytosol|nuclear pore	protein binding|transporter activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		CAACTAGGCGCAATTTACGTA	0.468													T	67899125	C	T	67899125	3	4	61	1	0	0	0	0	1	0	0	0	10779	710	25	2	94	2	NUTF2	16	67899125	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	474284	67899125	22455628	617	44403											
EDC4	23644	broad.mit.edu	37	chr16	67917602	67917602	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatccagcagctggcatcTgaccttggcactcgaactga	9	14	2	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:67917602T>C	uc002eur.2	+	28	4147	c.3981T>C	c.(3979-3981)TCT>TCC	p.S1327S	EDC4_uc010cer.2_Silent_p.S946S|EDC4_uc002eus.2_Silent_p.S1057S|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.2_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	1327					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		AGCTGGCATCTGACCTTGGCA	0.597											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	67917602	T	C	67917602	2	2	61	1	0	0	0	0	0	0	0	1	4908	1567	55	3		3	EDC4	16	67917602	Silent	SNP	T	TCGA-BR-8059-01A-11D-2340-08	18477	67917602	22437151	618	44404											
TERF2	7014	broad.mit.edu	37	chr16	69391425	69391425	+	Frame_Shift_Del	DEL	T	T	-													gagaattttaaattacctgcTtttttgttatattggttgta							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:69391424_69391424CT>C	uc002exd.3	-	8	1467	c.1341_1341AG>G	c.(1339-1341)aagfs	p.K447fs		NM_005652	NP_005643	Q15554	TERF2_HUMAN	Homo sapiens telomeric repeat binding factor 2 (TERF2), mRNA.	447	HTH myb-type.				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				AAATTACCTGCTTTTTTGTTA	0.398													-	69391425	T	-	69391425	7	5	61	1	0	1	0	1	0	0	0	0	15759	1609	56	0	170	0	TERF2	16	69391425	Frame_Shift_Del	DEL	T	TCGA-BR-8059-01A-11D-2340-08	1473823	69391425	20963328	619	44405											
DHX38	9785	broad.mit.edu	37	chr16	72131582	72131582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgactcttcatagatgagcGggatagaagtaggcacagca	13	7	2	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:72131582G>A	uc002fcb.2	+	4	873	c.518G>A	c.(517-519)CGG>CAG	p.R173Q	DHX38_uc010vmp.1_Intron|DHX38_uc010cgn.1_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	173					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)				ATAGATGAGCGGGATAGAAGT	0.502													A	72131582	G	A	72131582	3	1	61	1	0	0	0	0	1	0	0	0	4511	1116	39	1	528	1	DHX38	16	72131582	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	2740157	72131582	18223171	620	44406											
ZFHX3	463	broad.mit.edu	37	chr16	72829238	72829238	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gcagctctggctttggttgtCcttgcttttcttgggtttgg	13	8	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:72829238C>G	uc002fck.2	-	9	8016	c.7343G>C	c.(7342-7344)GGA>GCA	p.G2448A	ZFHX3_uc002fcl.2_Missense_Mutation_p.G1534A	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	2448					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				CTTTGGTTGTCCTTGCTTTTC	0.562													G	72829238	C	G	72829238	3	3	61	1	0	0	0	0	1	0	0	0	17631	855	30	5	3776	5	ZFHX3	16	72829238	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	697656	72829238	17525515	621	44407											
ADAMTS18	170692	broad.mit.edu	37	chr16	77398116	77398116	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgagaatgtatgtggtgAcatttcccttgccatgcttt	10	8	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:77398116A>T	uc002ffc.3	-	5	1360	c.941T>A	c.(940-942)GTC>GAC	p.V314D	ADAMTS18_uc010chc.1_5'Flank|ADAMTS18_uc002ffe.1_Missense_Mutation_p.V10D|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	314	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						GTATGTGGTGACATTTCCCTT	0.458													T	77398116	A	T	77398116	3	4	61	1	0	0	0	0	1	0	0	0	263	275	10	5	2800	5	ADAMTS18	16	77398116	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	4568878	77398116	12956637	622	44408											
CDH13	1012	broad.mit.edu	37	chr16	83159001	83159001	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccttttaggatatatttaaAtttgcaagaacttctcctgt	5	8	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:83159001A>T	uc002fgx.2	+	4	498	c.378A>T	c.(376-378)AAA>AAT	p.K126N	CDH13_uc010chh.2_Missense_Mutation_p.K126N|CDH13_uc010vns.1_Missense_Mutation_p.K173N|CDH13_uc010vnt.1_5'UTR|CDH13_uc010vnu.1_Intron	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	126					adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ATATATTTAAATTTGCAAGAA	0.383													T	83159001	A	T	83159001	3	4	61	1	0	0	0	0	1	0	0	0	3099	98	4	5	392	5	CDH13	16	83159001	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	5760885	83159001	7195752	623	44409											
NECAB2	54550	broad.mit.edu	37	chr16	84030847	84030847	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttcgacctgcagcagcgCctgtcagatgaagatggcac	13	11	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:84030847C>T	uc002fhd.2	+	9	839	c.822C>T	c.(820-822)CGC>CGT	p.R274R	NECAB2_uc002fhe.2_Silent_p.R191R	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN	neuronal calcium-binding protein 2	274					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			ovary(2)	2						TGCAGCAGCGCCTGTCAGATG	0.602													T	84030847	C	T	84030847	2	4	61	1	0	0	0	0	0	0	0	1	10305	726	26	2		2	NECAB2	16	84030847	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	871846	84030847	6323906	624	44410											
FOXL1	2300	broad.mit.edu	37	chr16	86612679	86612679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccgcgagaaagggcggcCgggcaagggcagctactgga	18	12	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr16:86612679C>T	uc002fjr.2	+	1	565	c.350C>T	c.(349-351)CCG>CTG	p.P117L		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	forkhead box L1	117	Fork-head.				brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1						AAAGGGCGGCCGGGCAAGGGC	0.667													T	86612679	C	T	86612679	3	4	61	1	0	0	0	0	1	0	0	0	6016	652	23	1	352	1	FOXL1	16	86612679	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2581832	86612679	3742074	625	44411											
VPS53	55275	broad.mit.edu	37	chr17	534812	534812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgccctgggaaggaaacGcttcttcaaaatctgccagg	12	10	3	0	rs138639431	by1000genomes	TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:534812G>A	uc002frn.2	-	8	812	c.665C>T	c.(664-666)GCG>GTG	p.A222V	VPS53_uc002frk.2_5'UTR|VPS53_uc010cjo.1_Missense_Mutation_p.A222V|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.A193V|VPS53_uc002fro.2_Missense_Mutation_p.A24V|VPS53_uc010cjp.1_Intron	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 isoform 2	222					protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GGAAGGAAACGCTTCTTCAAA	0.502													A	534812	G	A	534812	3	1	61	1	0	0	0	0	1	0	0	0	17212	1087	38	1	1908	1	VPS53	17	534812	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08		534812	80660398	626	44412											
TRPV3	162514	broad.mit.edu	37	chr17	3458106	3458106	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggcagcaactctcttGcccatgagaggcaccatctc	11	14	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:3458106G>C	uc002fvt.1	-	2	361	c.39C>G	c.(37-39)GGC>GGG	p.G13G	TRPV3_uc010vrj.1_5'UTR|TRPV3_uc010vrk.1_RNA|TRPV3_uc002fvr.2_Silent_p.G13G|TRPV3_uc002fvu.2_Silent_p.G13G	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	13	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	CAACTCTCTTGCCCATGAGAG	0.622													C	3458106	G	C	3458106	2	2	61	1	0	0	0	0	0	0	0	1	16594	1306	46	5		5	TRPV3	17	3458106	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	2923294	3458106	77737104	627	44413											
FAM64A	54478	broad.mit.edu	37	chr17	6350927	6350927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacccggctgtctggagccGcccctgcccactcagccgca	11	20	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:6350927G>A	uc002gcw.1	+	3	488	c.439G>A	c.(439-441)GCC>ACC	p.A147T	FAM64A_uc002gct.1_Missense_Mutation_p.A147T|FAM64A_uc002gcu.1_Missense_Mutation_p.A147T|FAM64A_uc002gcv.1_Missense_Mutation_p.A178T|FAM64A_uc002gcx.1_Missense_Mutation_p.A147T|FAM64A_uc002gcy.1_RNA|FAM64A_uc002gcz.1_RNA|FAM64A_uc002gda.1_Missense_Mutation_p.A147T|FAM64A_uc002gdb.1_Missense_Mutation_p.A147T	NM_019013	NP_061886	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	147						nucleolus	protein binding				0				COAD - Colon adenocarcinoma(228;0.141)		GTCTGGAGCCGCCCCTGCCCA	0.652													A	6350927	G	A	6350927	3	1	61	1	0	0	0	0	1	0	0	0	5598	1087	38	1	445	1	FAM64A	17	6350927	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	2892821	6350927	74844283	628	44414											
TEKT1	83659	broad.mit.edu	37	chr17	6716254	6716254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttgcgcagatcattggCtgtctgggacaggattcgat	13	9	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:6716254C>T	uc002gdt.2	-	6	858	c.748G>A	c.(748-750)GCC>ACC	p.A250T	TEKT1_uc010vth.1_Missense_Mutation_p.A104T	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	tektin 1	250					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|skin(1)	2		Myeloproliferative disorder(207;0.0255)				AGATCATTGGCTGTCTGGGAC	0.542													T	6716254	C	T	6716254	3	4	61	1	0	0	0	0	1	0	0	0	15749	797	28	2	520	2	TEKT1	17	6716254	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	365327	6716254	74478956	629	44415											
TEKT1	83659	broad.mit.edu	37	chr17	6716369	6716369	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccagtcttccagactcacGgagctgaaacagacctcacg	8	14	3	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:6716369G>A	uc002gdt.2	-	6	743	c.633C>T	c.(631-633)TCC>TCT	p.S211S	TEKT1_uc010vth.1_Silent_p.S65S	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	tektin 1	211					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|skin(1)	2		Myeloproliferative disorder(207;0.0255)				CCAGACTCACGGAGCTGAAAC	0.542													A	6716369	G	A	6716369	2	1	61	1	0	0	0	0	0	0	0	1	15749	1103	39	1		1	TEKT1	17	6716369	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	115	6716369	74478841	630	44416											
KDM6B	23135	broad.mit.edu	37	chr17	7754383	7754383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctggtggaagcgagtggcGaacacaccgtggaagttcgc	15	11	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:7754383G>A	uc002giw.1	+	14	4094	c.3718G>A	c.(3718-3720)GAA>AAA	p.E1240K	KDM6B_uc002gix.2_Missense_Mutation_p.E542K	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1240					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						AGCGAGTGGCGAACACACCGT	0.627													A	7754383	G	A	7754383	3	1	61	1	0	0	0	0	1	0	0	0	8138	1059	37	1	3760	1	KDM6B	17	7754383	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1038014	7754383	73440827	631	44417											
GUCY2D	3000	broad.mit.edu	37	chr17	7917215	7917215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagtggtgcagagggtgCggagcccccctccactgtgt	15	12	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:7917215C>T	uc002gjt.2	+	12	2355	c.2281C>T	c.(2281-2283)CGG>TGG	p.R761W		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	761	Protein kinase.|Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GCAGAGGGTGCGGAGCCCCCC	0.622													T	7917215	C	T	7917215	3	4	61	1	0	0	0	0	1	0	0	0	6897	759	27	1	2323	1	GUCY2D	17	7917215	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	162832	7917215	73277995	632	44418											
MYH1	4619	broad.mit.edu	37	chr17	10402102	10402102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaggtcacagtcatggCgggaggactgcagggcatgt	17	9	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:10402102C>T	uc002gmo.2	-	30	4116	c.4022G>A	c.(4021-4023)CGC>CAC	p.R1341H	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1341	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						ACAGTCATGGCGGGAGGACTG	0.502													T	10402102	C	T	10402102	3	4	61	1	0	0	0	0	1	0	0	0	10029	768	27	1	1841	1	MYH1	17	10402102	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2484887	10402102	70793108	633	44419											
FLCN	201163	broad.mit.edu	37	chr17	17119709	17119710	+	Frame_Shift_Ins	INS	-	-	G													gcacctgaggagagcacgtgINSgggggggatctgcacgtgcg					rs80338683		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:17119708_17119709T>TG	uc002gra.4	-	10	1789_1790	c.1285_1286A>CA	c.(1285-1287)cacfs	p.H429fs	PLD6_uc010cpn.3_Non-coding_Transcript	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	Homo sapiens folliculin (FLCN), transcript variant 1, mRNA.	429					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	p.H429fs*39(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGAGAGCACGTGGGGGGGGATC	0.663									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				G	17119710	-	G	17119709	7	5	61	1	0	1	1	0	0	0	0	0	5921	1348	47	0	470	0	FLCN	17	17119709	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	6717607	17119709	64075501	634	44420											
SREBF1	6720	broad.mit.edu	37	chr17	17723594	17723594	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagaaagcgggcatggaCgggtacatcttcaatggagt	17	6	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:17723594C>T	uc002gru.1	-	2	527	c.333G>A	c.(331-333)CCG>CCA	p.P111P	SREBF1_uc002grp.1_5'Flank|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_5'UTR|SREBF1_uc002grs.1_Silent_p.P87P|SREBF1_uc002grt.1_Silent_p.P141P|SREBF1_uc010cpp.1_Silent_p.P87P|SREBF1_uc010cpq.1_Silent_p.P111P	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	111	Pro/Ser-rich.|Cytoplasmic (Potential).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						CGGGCATGGACGGGTACATCT	0.652													T	17723594	C	T	17723594	2	4	61	1	0	0	0	0	0	0	0	1	15140	523	19	1		1	SREBF1	17	17723594	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	603885	17723594	63471616	635	44421											
SMCR8	140775	broad.mit.edu	37	chr17	18220056	18220056	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaagtgttttgacaagaAgttgaagaccttggaggagc	12	7	0	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:18220056A>C	uc002gsy.3	+	1	1463	c.953A>C	c.(952-954)AAG>ACG	p.K318T		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region,	318										central_nervous_system(1)	1						TTTGACAAGAAGTTGAAGACC	0.483													C	18220056	A	C	18220056	3	2	61	1	0	0	0	0	1	0	0	0	14792	72	3	5	955	5	SMCR8	17	18220056	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	496462	18220056	62975154	636	44422											
USP22	23326	broad.mit.edu	37	chr17	20921343	20921343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagacaggaagaagtccCgcagaagtggcgtgtgggtc	16	8	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:20921343C>T	uc002gym.3	-	5	806	c.602G>A	c.(601-603)CGG>CAG	p.R201Q	USP22_uc002gyn.3_Missense_Mutation_p.R189Q|USP22_uc002gyl.3_Missense_Mutation_p.R96Q	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	ubiquitin thiolesterase 22	201					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1						GAAGAAGTCCCGCAGAAGTGG	0.567													T	20921343	C	T	20921343	3	4	61	1	0	0	0	0	1	0	0	0	17051	652	23	1	1011	1	USP22	17	20921343	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2701287	20921343	60273867	637	44423											
POLDIP2	26073	broad.mit.edu	37	chr17	26675234	26675234	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catcaaagtgggagccatcaGgtctttcaaagcggaacgtg	12	9	4	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:26675234G>C	uc002haz.2	-	14	1148	c.1016C>G	c.(1015-1017)CCT>CGT	p.P339R	POLDIP2_uc010wag.1_RNA	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN	DNA polymerase delta interacting protein 2	339	ApaG.					mitochondrial nucleoid|nucleus					0	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GGAGCCATCAGGTCTTTCAAA	0.542													C	26675234	G	C	26675234	3	2	61	1	0	0	0	0	1	0	0	0	12194	1000	35	5	94	5	POLDIP2	17	26675234	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	5753891	26675234	54519976	638	44424											
MYO18A	399687	broad.mit.edu	37	chr17	27413999	27413999	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcggcctccttcctggcaagCtcgcccatctcctccttggt	8	18	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:27413999C>G	uc002hdt.1	-	38	5825	c.5667G>C	c.(5665-5667)GAG>GAC	p.E1889D	MYO18A_uc010wbc.1_Missense_Mutation_p.E1422D|MYO18A_uc002hds.2_Missense_Mutation_p.E1431D|MYO18A_uc010csa.1_Missense_Mutation_p.E1852D|MYO18A_uc002hdu.1_Missense_Mutation_p.E1889D	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	1889	Potential.			E -> G (in Ref. 3; CAI45931).	anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCCTGGCAAGCTCGCCCATCT	0.642													G	27413999	C	G	27413999	3	3	61	1	0	0	0	0	1	0	0	0	10065	796	28	5	517	5	MYO18A	17	27413999	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	738765	27413999	53781211	639	44425											
MYO18A	399687	broad.mit.edu	37	chr17	27442109	27442109	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agagtgagtgctggctggacTtgagagccctggatagggac	17	7	0	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:27442109T>A	uc002hdt.1	-	14	2485	c.2327A>T	c.(2326-2328)AAG>ATG	p.K776M	MYO18A_uc010wbc.1_Missense_Mutation_p.K318M|MYO18A_uc002hds.2_Missense_Mutation_p.K318M|MYO18A_uc010csa.1_Missense_Mutation_p.K776M|MYO18A_uc002hdu.1_Missense_Mutation_p.K776M|MYO18A_uc010wbd.1_Missense_Mutation_p.K445M	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	776	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTGGCTGGACTTGAGAGCCCT	0.652													A	27442109	T	A	27442109	3	1	61	1	0	0	0	0	1	0	0	0	10065	1609	56	5	3953	5	MYO18A	17	27442109	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	28110	27442109	53753101	640	44426											
SSH2	85464	broad.mit.edu	37	chr17	27958633	27958633	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactgccactggagagaggGctctcctgactttcttccca	9	14	3	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:27958633G>A	uc002heo.1	-	15	3498	c.3498C>T	c.(3496-3498)AGC>AGT	p.S1166S	SSH2_uc010wbh.1_Silent_p.S1193S	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	1166					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						TGGAGAGAGGGCTCTCCTGAC	0.517													A	27958633	G	A	27958633	2	1	61	1	0	0	0	0	0	0	0	1	15184	1194	42	2		2	SSH2	17	27958633	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	516524	27958633	53236577	641	44427											
ZNF207	7756	broad.mit.edu	37	chr17	30685633	30685633	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaaaagacatggatgaaagaCgacgacttcttgaacagaaa	9	6	1	5			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:30685633C>G	uc002hhh.3	+	3	428	c.280C>G	c.(280-282)CGA>GGA	p.R94G	ZNF207_uc002hhj.3_Missense_Mutation_p.R94G|ZNF207_uc002hhi.3_Missense_Mutation_p.R94G|ZNF207_uc010csz.2_Missense_Mutation_p.R97G|ZNF207_uc002hhk.1_Missense_Mutation_p.R94G|ZNF207_uc002hhl.1_5'Flank	NM_003457	NP_003448	O43670	ZN207_HUMAN	zinc finger protein 207 isoform a	94						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GGATGAAAGACGACGACTTCT	0.269													G	30685633	C	G	30685633	3	3	61	1	0	0	0	0	1	0	0	0	17762	528	19	5	290	5	ZNF207	17	30685633	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2727000	30685633	50509577	642	44428											
LIG3	3980	broad.mit.edu	37	chr17	33323671	33323671	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgatgtcagcttgatggacAggtgagttggctagcatctt	13	6	2	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:33323671A>T	uc002hik.1	+	11	1930	c.1822A>T	c.(1822-1824)AGA>TGA	p.R608*	LIG3_uc002hij.2_Nonsense_Mutation_p.R608*	NM_013975	NP_039269	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent isoform alpha	608					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9		Ovarian(249;0.17)			Bleomycin(DB00290)	CTTGATGGACAGGTGAGTTGG	0.443								Other_BER_factors					T	33323671	A	T	33323671	4	4	61	1	0	0	0	0	0	1	0	0	8782	202	7	5	1860	5	LIG3	17	33323671	Nonsense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	2638038	33323671	47871539	643	44429											
RFFL	117584	broad.mit.edu	37	chr17	33338995	33338995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgcaagctctcaggaccGgaagacatgcacagctcgga	12	12	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:33338995G>A	uc002hin.1	-	7	1257	c.1084C>T	c.(1084-1086)CGG>TGG	p.R362W	RFFL_uc002hiq.2_Missense_Mutation_p.R271W|RFFL_uc002him.1_Missense_Mutation_p.R354W|RFFL_uc010cti.1_Missense_Mutation_p.R368W|RFFL_uc002hip.1_Missense_Mutation_p.R326W|RFFL_uc002hio.1_Missense_Mutation_p.R362W	NM_001017368	NP_001017368	Q8WZ73	RFFL_HUMAN	rififylin	362					apoptosis	membrane	ligase activity|zinc ion binding				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TCTCAGGACCGGAAGACATGC	0.542													A	33338995	G	A	33338995	3	1	61	1	0	0	0	0	1	0	0	0	13250	1115	39	1	11	1	RFFL	17	33338995	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	15324	33338995	47856215	644	44430											
KRTAP9-4	85280	broad.mit.edu	37	chr17	39406320	39406320	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgtctgcctgcctggttgCctaaaccagagctgtggctc	11	13	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:39406320C>A	uc002hwi.2	+	1	382	c.348C>A	c.(346-348)TGC>TGA	p.C116*	KRTAP9-9_uc010wfq.1_Intron	NM_033191	NP_149461	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	116	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCCTGGTTGCCTAAACCAGA	0.612													A	39406320	C	A	39406320	4	1	61	1	0	0	0	0	0	1	0	0	8575	747	26	5	350	5	KRTAP9-4	17	39406320	Nonsense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	6067325	39406320	41788890	645	44431											
KRT31	3881	broad.mit.edu	37	chr17	39551161	39551161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacactccagccgggcacGcacatccagcagcacctggt	9	18	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:39551161G>A	uc002hwn.2	-	6	1089	c.1036C>T	c.(1036-1038)CGT>TGT	p.R346C	KRT31_uc010cxn.2_Missense_Mutation_p.R346C	NM_002277	NP_002268	Q15323	K1H1_HUMAN	keratin 31	346	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000496)				AGCCGGGCACGCACATCCAGC	0.592													A	39551161	G	A	39551161	3	1	61	1	0	0	0	0	1	0	0	0	8467	1087	38	1	222	1	KRT31	17	39551161	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	144841	39551161	41644049	646	44432											
GPATCH8	23131	broad.mit.edu	37	chr17	42541896	42541896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccatgtttctggagtaagCggtgtccaatattatcctga	9	9	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:42541896C>T	uc002igw.1	-	3	201	c.137G>A	c.(136-138)CGC>CAC	p.R46H	GPATCH8_uc002igv.1_5'UTR|GPATCH8_uc010wiz.1_5'UTR	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	46	G-patch.					intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTGGAGTAAGCGGTGTCCAAT	0.393													T	42541896	C	T	42541896	3	4	61	1	0	0	0	0	1	0	0	0	6594	768	27	1	4395	1	GPATCH8	17	42541896	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2990735	42541896	38653314	647	44433											
KIAA1267	284058	broad.mit.edu	37	chr17	44248449	44248449	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctcactggcagcttttctcAaggcagcttcagcctttcga	8	13	3	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:44248449A>T	uc002ikb.2	-	1	1146	c.1061T>A	c.(1060-1062)TTG>TAG	p.L354*	KIAA1267_uc002ikc.2_Nonsense_Mutation_p.L354*|KIAA1267_uc002ikd.2_Nonsense_Mutation_p.L354*|KIAA1267_uc010dav.2_Nonsense_Mutation_p.L354*	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	354						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				AGCTTTTCTCAAGGCAGCTTC	0.463													T	44248449	A	T	44248449	4	4	61	1	0	0	0	0	0	1	0	0	8219	131	5	5	2312	5	KIAA1267	17	44248449	Nonsense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	1706553	44248449	36946761	648	44434											
KIAA1267	284058	broad.mit.edu	37	chr17	44248642	44248642	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctcaatgtcagcctgtcGccgcagtaaagctgttatcc	9	13	2	0	rs149830411		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:44248642G>A	uc002ikb.2	-	1	953	c.868C>T	c.(868-870)CGA>TGA	p.R290*	KIAA1267_uc002ikc.2_Nonsense_Mutation_p.R290*|KIAA1267_uc002ikd.2_Nonsense_Mutation_p.R290*|KIAA1267_uc010dav.2_Nonsense_Mutation_p.R290*	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	290	Potential.					MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				TCAGCCTGTCGCCGCAGTAAA	0.488													A	44248642	G	A	44248642	4	1	61	1	0	0	0	0	0	1	0	0	8219	1095	38	1	2505	1	KIAA1267	17	44248642	Nonsense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	193	44248642	36946568	649	44435											
NSF	4905	broad.mit.edu	37	chr17	44827207	44827207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagatggaaatgcttaaCgctttcagcaccaccatcca	8	12	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:44827207C>T	uc002iku.2	+	18	2081	c.1977C>T	c.(1975-1977)AAC>AAT	p.N659N	NSF_uc010wke.1_Silent_p.N565N|NSF_uc010wkf.1_Silent_p.N565N|NSF_uc010wkg.1_Silent_p.N654N	NM_006178	NP_006169	P46459	NSF_HUMAN	vesicle-fusing ATPase	659					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			ovary(1)	1		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		AAATGCTTAACGCTTTCAGCA	0.458													T	44827207	C	T	44827207	2	4	61	1	0	0	0	0	0	0	0	1	10671	535	19	1		1	NSF	17	44827207	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	578565	44827207	36368003	650	44436											
WNT3	7473	broad.mit.edu	37	chr17	44846085	44846085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcacggaagtcaggctgCgcccaccagcaggtcttcac	12	14	3	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:44846085C>T	uc002ikv.2	-	4	788	c.669G>A	c.(667-669)GCG>GCA	p.A223A		NM_030753	NP_110380	P56703	WNT3_HUMAN	wingless-type MMTV integration site family,	223					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AGTCAGGCTGCGCCCACCAGC	0.602													T	44846085	C	T	44846085	2	4	61	1	0	0	0	0	0	0	0	1	17385	755	27	1		1	WNT3	17	44846085	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	18878	44846085	36349125	651	44437											
PHB	5245	broad.mit.edu	37	chr17	47482484	47482484	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgatcaggccatcccctgcaGtggccagtgagttggcaatc	12	13	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:47482484G>C	uc002iox.1	-	7	762	c.689C>G	c.(688-690)ACT>AGT	p.T230S		NM_002634	NP_002625	P35232	PHB_HUMAN	prohibitin	230					cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding				0	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			ATCCCCTGCAGTGGCCAGTGA	0.592													C	47482484	G	C	47482484	3	2	61	1	0	0	0	0	1	0	0	0	11814	1029	36	5	133	5	PHB	17	47482484	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	2636399	47482484	33712726	652	44438											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	61	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	8903900	56386384	24808826	653	44439											
C17orf71	55181	broad.mit.edu	37	chr17	57288479	57288479	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatgttgctggaccaacttaGgagtcattgtactgtgaagg	12	6	1	1	rs148740401		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:57288479G>T	uc002ixi.2	+	1	1109	c.1067G>T	c.(1066-1068)AGG>ATG	p.R356M		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	356					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GACCAACTTAGGAGTCATTGT	0.537													T	57288479	G	T	57288479	3	4	61	1	0	0	0	0	1	0	0	0	1878	1000	35	5	1069	5	C17orf71	17	57288479	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	902095	57288479	23906731	654	44440											
DCAF7	10238	broad.mit.edu	37	chr17	61660984	61660984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacacagcaccatcatttacGaagacccacagcatcaccca	4	16	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:61660984G>A	uc002jbc.2	+	6	866	c.649G>A	c.(649-651)GAA>AAA	p.E217K	DCAF7_uc002jbb.2_RNA|DCAF7_uc010wpn.1_Intron	NM_005828	NP_005819	P61962	DCAF7_HUMAN	WD-repeat protein	217					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			ovary(1)	1						CATCATTTACGAAGACCCACA	0.592													A	61660984	G	A	61660984	3	1	61	1	0	0	0	0	1	0	0	0	4275	1058	37	1	668	1	DCAF7	17	61660984	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	4372505	61660984	19534226	655	44441											
MAP3K3	4215	broad.mit.edu	37	chr17	61770978	61770978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagtatgaagctatggcCgccatcttcaagattgccac	10	11	2	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:61770978C>T	uc002jbg.2	+	16	2041	c.1722C>T	c.(1720-1722)GCC>GCT	p.A574A	MAP3K3_uc002jbe.2_Silent_p.A605A|MAP3K3_uc002jbf.2_Silent_p.A605A|MAP3K3_uc002jbh.2_Silent_p.A601A|MAP3K3_uc010wpo.1_Silent_p.A489A|MAP3K3_uc010wpp.1_Silent_p.A570A	NM_002401	NP_002392	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	574	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	6						AAGCTATGGCCGCCATCTTCA	0.582													T	61770978	C	T	61770978	2	4	61	1	0	0	0	0	0	0	0	1	9251	639	23	1		1	MAP3K3	17	61770978	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	109994	61770978	19424232	656	44442											
FTSJ3	117246	broad.mit.edu	37	chr17	61899483	61899483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcagatcggacagaaAtgtgtctgctgcactcatat	10	10	2	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:61899483A>G	uc002jbz.2	-	13	1414	c.1336T>C	c.(1336-1338)TTT>CTT	p.F446L	FTSJ3_uc002jca.2_Missense_Mutation_p.F446L	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	446					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						TCGGACAGAAATGTGTCTGCT	0.418													G	61899483	A	G	61899483	3	3	61	1	0	0	0	0	1	0	0	0	6089	101	4	3	1239	3	FTSJ3	17	61899483	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	128505	61899483	19295727	657	44443											
BPTF	2186	broad.mit.edu	37	chr17	65924597	65924597	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccataagtggctcagttacaActggaaccaaaatggtacta	8	9	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:65924597A>T	uc002jgf.2	+	16	5939	c.5878A>T	c.(5878-5880)ACT>TCT	p.T1960S	BPTF_uc002jge.2_Missense_Mutation_p.T2086S	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2086					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTCAGTTACAACTGGAACCAA	0.433													T	65924597	A	T	65924597	3	4	61	1	0	0	0	0	1	0	0	0	1495	43	2	5	6326	5	BPTF	17	65924597	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	4025114	65924597	15270613	658	44444											
WIPI1	55062	broad.mit.edu	37	chr17	66446986	66446986	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgtgactgactaccacCaccaggctgctggagaagag	12	10	0	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:66446986C>G	uc010dey.2	-	3	307	c.216G>C	c.(214-216)GTG>GTC	p.V72V	WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_5'UTR|WIPI1_uc002jhe.3_RNA	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting	72					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding				0						TGACTACCACCACCAGGCTGC	0.502													G	66446986	C	G	66446986	2	3	61	1	0	0	0	0	0	0	0	1	17367	581	21	5		5	WIPI1	17	66446986	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	522389	66446986	14748224	659	44445											
CD300LB	124599	broad.mit.edu	37	chr17	72518885	72518885	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatccatctctctaagtggCcatgtctttagtcagaggtt	9	9	4	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:72518885C>A	uc002jkx.2	-	4	722	c.709G>T	c.(709-711)GCC>TCC	p.A237S		NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	200	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)	1						CTCTAAGTGGCCATGTCTTTA	0.557													A	72518885	C	A	72518885	3	1	61	1	0	0	0	0	1	0	0	0	2999	739	26	5	11	5	CD300LB	17	72518885	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	6071899	72518885	8676325	660	44446											
CD300LF	146722	broad.mit.edu	37	chr17	72700807	72700807	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gacccactggttttaacaagGatcttgcagtcacgccaaat	8	11	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:72700807G>T	uc002jlg.2	-	2	295	c.192C>A	c.(190-192)ATC>ATA	p.I64I	RAB37_uc002jlc.2_Intron|RAB37_uc010dfu.2_Intron|RAB37_uc002jld.2_Intron|CD300LF_uc002jlf.2_Silent_p.I67I|CD300LF_uc010dfw.2_RNA|CD300LF_uc002jlh.2_Silent_p.I64I|CD300LF_uc002jli.2_Silent_p.I67I|CD300LF_uc010wra.1_Silent_p.I64I|CD300LF_uc002jlj.1_Silent_p.I67I	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN	NK inhibitory receptor precursor	64	Ig-like V-type.|Extracellular (Potential).			I -> V (in Ref. 5; AAZ81566).		integral to membrane|plasma membrane	receptor activity			upper_aerodigestive_tract(1)	1						TTTTAACAAGGATCTTGCAGT	0.537													T	72700807	G	T	72700807	2	4	61	1	0	0	0	0	0	0	0	1	3001	1164	41	5		5	CD300LF	17	72700807	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	181922	72700807	8494403	661	44447											
CASKIN2	57513	broad.mit.edu	37	chr17	73498180	73498180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcccggcacttgggcctcCgcttaacagtgtctgattcc	9	15	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:73498180C>T	uc002joc.2	-	18	3525	c.2975G>A	c.(2974-2976)CGG>CAG	p.R992Q	CASKIN2_uc010wsc.1_Missense_Mutation_p.R910Q	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	992	Pro-rich.					cytoplasm				pancreas(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTTGGGCCTCCGCTTAACAGT	0.682													T	73498180	C	T	73498180	3	4	61	1	0	0	0	0	1	0	0	0	2667	652	23	1	645	1	CASKIN2	17	73498180	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	797373	73498180	7697030	662	44448											
FBF1	85302	broad.mit.edu	37	chr17	73924169	73924169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacccacctgcaggcttggGgtggttgggcagctctcctt	14	12	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:73924169G>A	uc002jqc.2	-	7	617	c.343C>T	c.(343-345)CCC>TCC	p.P115S	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.P105S|FBF1_uc002jqd.1_Missense_Mutation_p.P115S	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	115											0						GCAGGCTTGGGGTGGTTGGGC	0.537													A	73924169	G	A	73924169	3	1	61	1	0	0	0	0	1	0	0	0	5695	1232	43	4	3150	4	FBF1	17	73924169	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	425989	73924169	7271041	663	44449											
SYNGR2	9144	broad.mit.edu	37	chr17	76167865	76167867	+	In_Frame_Del	DEL	GAC	GAC	-													agcgctacaaggctggcgtgGacgacttcatccagaattac							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:76167864_76167866GGAC>G	uc002jut.3	+	2	638_640	c.611_613GGAC>G	c.(610-615)tggacg>tGcg	p.204_205WT>C	SYNGR2_uc002juu.1_In_Frame_Del_p.D176del			O43760	SNG2_HUMAN	Homo sapiens synaptogyrin 2 (SYNGR2), mRNA.	0						integral to plasma membrane		p.D175N(1)		endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			AGGCTGGCGTGGACGACTTCATC	0.635													-	76167867	GAC	-	76167865	7	5	61	1	0	1	0	1	0	0	0	0	15446	1174	41	0	537	0	SYNGR2	17	76167865	In_Frame_Del	DEL	GAC	TCGA-BR-8059-01A-11D-2340-08	2243696	76167865	5027345	664	44450											
CCDC40	55036	broad.mit.edu	37	chr17	78069165	78069165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccaggccgaggggcagcGcaagatggacaggaaggcgc	17	12	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:78069165G>A	uc010dht.2	+	18	2963	c.2936G>A	c.(2935-2937)CGC>CAC	p.R979H	CCDC40_uc002jxm.3_Missense_Mutation_p.R762H|CCDC40_uc002jxn.3_Missense_Mutation_p.R375H	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	979					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAGGGGCAGCGCAAGATGGAC	0.637													A	78069165	G	A	78069165	3	1	61	1	0	0	0	0	1	0	0	0	2812	1087	38	1	3006	1	CCDC40	17	78069165	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1901300	78069165	3126045	665	44451											
RNF213	57674	broad.mit.edu	37	chr17	78358856	78358856	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggaagcagagctgaggctGgtaaagttcctgcctgagat	14	8	0	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:78358856G>T	uc002jyh.1	+	35	8782	c.8559G>T	c.(8557-8559)CTG>CTT	p.L2853L	uc002jyi.1_Intron|RNF213_uc010dhx.1_5'Flank	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGCTGAGGCTGGTAAAGTTCC	0.463													T	78358856	G	T	78358856	2	4	61	1	0	0	0	0	0	0	0	1	13477	1335	47	5		5	RNF213	17	78358856	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	289691	78358856	2836354	666	44452											
AZI1	22994	broad.mit.edu	37	chr17	79173612	79173612	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggtccaagagggtcccCtcgcctgaccgctgccgctg	13	16	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:79173612C>A	uc002jzp.1	-	9	1130	c.930G>T	c.(928-930)GAG>GAT	p.E310D	AZI1_uc002jzm.1_5'Flank|AZI1_uc002jzn.1_Missense_Mutation_p.E310D|AZI1_uc002jzo.1_Missense_Mutation_p.E310D|AZI1_uc010wum.1_Missense_Mutation_p.E310D	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	310					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGAGGGTCCCCTCGCCTGACC	0.627													A	79173612	C	A	79173612	3	1	61	1	0	0	0	0	1	0	0	0	1240	680	24	5	2384	5	AZI1	17	79173612	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	814756	79173612	2021598	667	44453											
SLC38A10	124565	broad.mit.edu	37	chr17	79220832	79220832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcacctgaagcaggacggCgtggtccagcatctccgccc	12	15	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr17:79220832C>T	uc002jzz.1	-	15	2470	c.2095G>A	c.(2095-2097)GCC>ACC	p.A699T	SLC38A10_uc002jzy.1_Missense_Mutation_p.A617T	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	699					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGCAGGACGGCGTGGTCCAGC	0.627													T	79220832	C	T	79220832	3	4	61	1	0	0	0	0	1	0	0	0	14602	768	27	1	1272	1	SLC38A10	17	79220832	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	47220	79220832	1974378	668	44454											
COLEC12	81035	broad.mit.edu	37	chr18	331763	331763	+	Frame_Shift_Del	DEL	T	T	-													ctctctctccctaccatctgTttttttatccattgctgaaa							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr18:331762_331762GT>G	uc002kkm.3	-	7	2184	c.1969_1969AC>C	c.(1969-1971)cagfs	p.Q657fs		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	657	C-type lectin.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CCTACCATCTGTTTTTTTATC	0.423													-	331763	T	-	331763	7	5	61	1	0	1	0	1	0	0	0	0	3712	1722	60	0	272	0	COLEC12	18	331763	Frame_Shift_Del	DEL	T	TCGA-BR-8059-01A-11D-2340-08		331763	77745485	669	44455											
NDC80	10403	broad.mit.edu	37	chr18	2595494	2595494	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagtactcagttgcagaCattgagcgaataaatcatga	9	7	2	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr18:2595494C>T	uc002kli.2	+	11	1277	c.1095C>T	c.(1093-1095)GAC>GAT	p.D365D		NM_006101	NP_006092	O14777	NDC80_HUMAN	kinetochore associated 2	365	Interaction with the N-terminus of CDCA1.|Interaction with PSMC2 and SMC1A.|Potential.|Interaction with NEK2 and ZWINT.|Interaction with SMC1A.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			ovary(1)	1						CAGTTGCAGACATTGAGCGAA	0.363													T	2595494	C	T	2595494	2	4	61	1	0	0	0	0	0	0	0	1	10242	477	17	4		4	NDC80	18	2595494	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2263731	2595494	75481754	670	44456											
TMEM200C	645369	broad.mit.edu	37	chr18	5892008	5892008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtatctggcttggggggcGgagtggatcctgctttctgg	19	7	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr18:5892008G>A	uc002kmx.1	-	1	96	c.55C>T	c.(55-57)CGC>TGC	p.R19C		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	transmembrane protein 200C	19						integral to membrane					0						CTTGGGGGGCGGAGTGGATCC	0.607													A	5892008	G	A	5892008	3	1	61	1	0	0	0	0	1	0	0	0	16122	1116	39	1	1814	1	TMEM200C	18	5892008	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	3296514	5892008	72185240	671	44457											
LAMA1	284217	broad.mit.edu	37	chr18	6955431	6955431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactggtgagcgccgggaaCgtactccagagctgcatcca	12	12	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr18:6955431C>T	uc002knm.2	-	57	8222	c.8128G>A	c.(8128-8130)GTT>ATT	p.V2710I	LAMA1_uc002knk.2_Missense_Mutation_p.V40I|LAMA1_uc002knl.2_Missense_Mutation_p.V163I|LAMA1_uc010wzj.1_Missense_Mutation_p.V2186I	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2710					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)	GCGCCGGGAACGTACTCCAGA	0.527													T	6955431	C	T	6955431	3	4	61	1	0	0	0	0	1	0	0	0	8605	536	19	1	1127	1	LAMA1	18	6955431	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1063423	6955431	71121817	672	44458											
LAMA1	284217	broad.mit.edu	37	chr18	7024437	7024437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacagaccacttcatctcCatcattgaggtggcaggtgg	11	11	4	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr18:7024437C>T	uc002knm.2	-	18	2525	c.2431G>A	c.(2431-2433)GGA>AGA	p.G811R	LAMA1_uc010wzj.1_Missense_Mutation_p.G287R	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	811	Laminin EGF-like 7.				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)	ACTTCATCTCCATCATTGAGG	0.433													T	7024437	C	T	7024437	3	4	61	1	0	0	0	0	1	0	0	0	8605	603	21	4	6980	4	LAMA1	18	7024437	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	69006	7024437	71052811	673	44459											
LAMA1	284217	broad.mit.edu	37	chr18	7049125	7049125	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaggttcccggtggctaagGgtcatgagatctgcattgag	14	7	2	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr18:7049125G>A	uc002knm.2	-	5	814	c.720C>T	c.(718-720)ACC>ACT	p.T240T	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	240	Laminin N-terminal.				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)	GGTGGCTAAGGGTCATGAGAT	0.448													A	7049125	G	A	7049125	2	1	61	1	0	0	0	0	0	0	0	1	8605	1219	43	4		4	LAMA1	18	7049125	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	24688	7049125	71028123	674	44460											
VAPA	9218	broad.mit.edu	37	chr18	9931887	9931887	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttcaaagtgaagactAcagcacctcgccggtactgt	10	10	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr18:9931887A>G	uc002kok.2	+	2	459	c.160A>G	c.(160-162)ACA>GCA	p.T54A	VAPA_uc002koj.2_Missense_Mutation_p.T54A	NM_194434	NP_919415	Q9P0L0	VAPA_HUMAN	vesicle-associated membrane protein-associated	54	Cytoplasmic (Potential).|MSP.				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity				0						AGTGAAGACTACAGCACCTCG	0.403													G	9931887	A	G	9931887	3	3	61	1	0	0	0	0	1	0	0	0	17118	391	14	3	166	3	VAPA	18	9931887	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	2882762	9931887	68145361	675	44461											
APCDD1	147495	broad.mit.edu	37	chr18	10487638	10487638	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccacagcctcactgctcaAcgtcttcaacgggaatgagt	10	13	4	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr18:10487638A>G	uc002kom.3	+	5	1502	c.1148A>G	c.(1147-1149)AAC>AGC	p.N383S		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	383	Extracellular (Potential).				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding				0				READ - Rectum adenocarcinoma(15;0.08)		TCACTGCTCAACGTCTTCAAC	0.597													G	10487638	A	G	10487638	3	3	61	1	0	0	0	0	1	0	0	0	765	43	2	3	1166	3	APCDD1	18	10487638	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	555751	10487638	67589610	676	44462											
RBBP8	5932	broad.mit.edu	37	chr18	20586340	20586340	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttatagctcatggtgataaaCaagacaaagtcaagcagaaa	8	6	2	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr18:20586340C>G	uc002ktw.2	+	16	2633	c.2302C>G	c.(2302-2304)CAA>GAA	p.Q768E	RBBP8_uc002kty.2_Missense_Mutation_p.Q768E|RBBP8_uc002ktz.2_Missense_Mutation_p.Q768E|RBBP8_uc002kua.2_Missense_Mutation_p.Q773E|RBBP8_uc010xap.1_Missense_Mutation_p.Q106E	NM_002894	NP_002885	Q99708	COM1_HUMAN	retinoblastoma binding protein 8 isoform a	768					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)|lung(1)|skin(1)	3	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TGGTGATAAACAAGACAAAGT	0.338								Direct_reversal_of_damage|Homologous_recombination					G	20586340	C	G	20586340	3	3	61	1	0	0	0	0	1	0	0	0	13105	479	17	5	2360	5	RBBP8	18	20586340	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	10098702	20586340	57490908	677	44463											
DSG4	147409	broad.mit.edu	37	chr18	28979459	28979459	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgaattatgtgcttggcacAtatacagccatagatttgga	9	6	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr18:28979459A>T	uc002kwq.2	+	9	1365	c.1230A>T	c.(1228-1230)ACA>ACT	p.T410T	DSG4_uc002kwr.2_Silent_p.T410T	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2 preproprotein	410	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGCTTGGCACATATACAGCCA	0.398													T	28979459	A	T	28979459	2	4	61	1	0	0	0	0	0	0	0	1	4779	204	8	5		5	DSG4	18	28979459	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	8393119	28979459	49097789	678	44464											
DSG3	1830	broad.mit.edu	37	chr18	29038540	29038540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acataacagctatagtcgacCgggaggaaactccaagcttc	9	11	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr18:29038540C>T	uc002kws.2	+	4	458	c.349C>T	c.(349-351)CGG>TGG	p.R117W		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	117	Extracellular (Potential).|Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TATAGTCGACCGGGAGGAAAC	0.453													T	29038540	C	T	29038540	3	4	61	1	0	0	0	0	1	0	0	0	4778	643	23	1	363	1	DSG3	18	29038540	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	59081	29038540	49038708	679	44465											
TTR	7276	broad.mit.edu	37	chr18	29178579	29178579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgccgctacaccattgccGccctgctgagcccctactcc	7	22	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr18:29178579G>A	uc002kwx.3	+	4	521	c.385G>A	c.(385-387)GCC>ACC	p.A129T		NM_000371	NP_000362	P02766	TTHY_HUMAN	transthyretin precursor	129			A -> T (in HTDE; increased affinity for thyroxine).		transport	cytoplasm	hormone activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)	CACCATTGCCGCCCTGCTGAG	0.577													A	29178579	G	A	29178579	3	1	61	1	0	0	0	0	1	0	0	0	16735	1087	38	1	399	1	TTR	18	29178579	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	140039	29178579	48898669	680	44466											
RNF125	54941	broad.mit.edu	37	chr18	29617149	29617149	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtccttattgccgggcatatCttccttcagaaggagttcca	9	11	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr18:29617149C>G	uc002kxf.1	+	2	617	c.235C>G	c.(235-237)CTT>GTT	p.L79V		NM_017831	NP_060301	Q96EQ8	RN125_HUMAN	ring finger protein 125	79					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding				0						CCGGGCATATCTTCCTTCAGA	0.448													G	29617149	C	G	29617149	3	3	61	1	0	0	0	0	1	0	0	0	13434	913	32	5	241	5	RNF125	18	29617149	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	438570	29617149	48460099	681	44467											
DSEL	92126	broad.mit.edu	37	chr18	65180002	65180002	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattatacctattcataaacTtatatgggatatatttaaaa	3	5	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr18:65180002T>C	uc002lke.1	-	2	3098	c.1874A>G	c.(1873-1875)AAG>AGG	p.K625R		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	615						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				ATTCATAAACTTATATGGGAT	0.348													C	65180002	T	C	65180002	3	2	61	1	0	0	0	0	1	0	0	0	4775	1609	56	3	1798	3	DSEL	18	65180002	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	35562853	65180002	12897246	682	44468											
C19orf26	255057	broad.mit.edu	37	chr19	1231197	1231197	+	Frame_Shift_Del	DEL	G	G	-													gtactggatgaagtcctcctGgggggcatccccctcctcct							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:1231196_1231196TG>T	uc002lrm.2	-	8	1315	c.1040_1040CA>A	c.(1039-1041)cagfs	p.Q347fs		NM_152769	NP_689982	Q8N350	DOS_HUMAN	Homo sapiens chromosome 19 open reading frame 26 (C19orf26), mRNA.	373						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGTCCTCCTGGGGGGCATC	0.701										HNSCC(14;0.022)			-	1231197	G	-	1231197	7	5	61	1	0	1	0	1	0	0	0	0	1916	1357	47	0	308	0	C19orf26	19	1231197	Frame_Shift_Del	DEL	G	TCGA-BR-8059-01A-11D-2340-08		1231197	57897786	683	44469											
TCF3	6929	broad.mit.edu	37	chr19	1615428	1615428	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgatgtcacggacccgcaGccgctcccgggcgttattgg	14	13	1	1	rs1052768		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:1615428G>A	uc002ltr.2	-	18	1745	c.1678C>T	c.(1678-1680)CTG>TTG	p.L560L	TCF3_uc002ltn.2_Intron|TCF3_uc002lto.2_Silent_p.L321L|TCF3_uc002ltt.3_Intron|TCF3_uc002ltq.2_Silent_p.L564L|TCF3_uc002lts.1_Intron	NM_003200	NP_003191	P15923	TFE2_HUMAN	transcription factor 3 isoform E12	560	Basic motif.				B cell lineage commitment|B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1)	7		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGACCCGCAGCCGCTCCCGG	0.642			T	PBX1|HLF|TFPT	pre B-ALL								A	1615428	G	A	1615428	2	1	61	1	0	0	0	0	0	0	0	1	15691	962	34	2		2	TCF3	19	1615428	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	384231	1615428	57513555	684	44470											
JSRP1	126306	broad.mit.edu	37	chr19	2252963	2252963	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggcgggacccagggctcgGgcacacgtgcttggagtgct	17	11	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:2252963G>T	uc002lvi.1	-	5	511	c.476C>A	c.(475-477)CCC>CAC	p.P159H	JSRP1_uc002lvj.1_Missense_Mutation_p.P159H	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	159	Pro-rich.					sarcoplasmic reticulum membrane				pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGGCTCGGGCACACGTGC	0.682													T	2252963	G	T	2252963	3	4	61	1	0	0	0	0	1	0	0	0	7966	1232	43	5	527	5	JSRP1	19	2252963	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	637535	2252963	56876020	685	44471											
ZNF57	126295	broad.mit.edu	37	chr19	2917677	2917677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttccagatcattccaagGtcatttgaggacgcacactg	8	12	3	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:2917677G>A	uc002lwr.2	+	4	1206	c.1058G>A	c.(1057-1059)GGT>GAT	p.G353D	ZNF57_uc010xha.1_Missense_Mutation_p.G321D	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	353	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATTCCAAGGTCATTTGAGG	0.448													A	2917677	G	A	2917677	3	1	61	1	0	0	0	0	1	0	0	0	17998	1261	44	4	1072	4	ZNF57	19	2917677	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	664714	2917677	56211306	686	44472											
CHAF1A	10036	broad.mit.edu	37	chr19	4409294	4409294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgaaggccattcagaaCgacaagttggcatttcctgg	11	8	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:4409294C>T	uc002mal.2	+	3	598	c.498C>T	c.(496-498)AAC>AAT	p.N166N		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	166	Binds to CBX1 chromo shadow domain.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATTCAGAACGACAAGTTGG	0.527								Chromatin_Structure					T	4409294	C	T	4409294	2	4	61	1	0	0	0	0	0	0	0	1	3311	535	19	1		1	CHAF1A	19	4409294	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1491617	4409294	54719689	687	44473											
LRG1	116844	broad.mit.edu	37	chr19	4538912	4538912	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccaggctgaggctgccaaCagcagcagcaggaacagagt	13	13	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:4538912C>A	uc002mau.2	-	2	95	c.84G>T	c.(82-84)CTG>CTT	p.L28L	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1 precursor	28						extracellular region|membrane				ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCTGCCAACAGCAGCAGCA	0.552													A	4538912	C	A	4538912	2	1	61	1	0	0	0	0	0	0	0	1	8942	465	17	5		5	LRG1	19	4538912	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	129618	4538912	54590071	688	44474											
ZNF358	140467	broad.mit.edu	37	chr19	7585755	7585755	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgttctcccactcgtggcActgtcagcccagccctccct	7	20	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:7585755A>G	uc002mgn.2	+	2	1797	c.1627A>G	c.(1627-1629)ACT>GCT	p.T543A	MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	543					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						CACTCGTGGCACTGTCAGCCC	0.657													G	7585755	A	G	7585755	3	3	61	1	0	0	0	0	1	0	0	0	17864	159	6	3	1629	3	ZNF358	19	7585755	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	3046843	7585755	51543228	689	44475											
MYO1F	4542	broad.mit.edu	37	chr19	8612926	8612926	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttggccgcccacctgctcGgccttcagggtaagttcgat	12	14	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:8612926G>A	uc002mkg.2	-	12	1377	c.1263C>T	c.(1261-1263)GCC>GCT	p.A421A	MYO1F_uc002mkh.2_3'UTR	NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	421	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						CCACCTGCTCGGCCTTCAGGG	0.557													A	8612926	G	A	8612926	2	1	61	1	0	0	0	0	0	0	0	1	10073	1103	39	1		1	MYO1F	19	8612926	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1027171	8612926	50516057	690	44476											
ZNF558	148156	broad.mit.edu	37	chr19	8932690	8932690	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgactcacccgtagccagcTtgtcaggagctcattaacca	8	14	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:8932690T>A	uc002mkn.1	-	2	339	c.109A>T	c.(109-111)AGC>TGC	p.S37C	ZNF558_uc010xkh.1_5'Flank|ZNF558_uc010dwg.1_Missense_Mutation_p.S37C	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	zinc finger protein 558	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1						CGTAGCCAGCTTGTCAGGAGC	0.537													A	8932690	T	A	8932690	3	1	61	1	0	0	0	0	1	0	0	0	17986	1609	56	5	1119	5	ZNF558	19	8932690	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	319764	8932690	50196293	691	44477											
MUC16	94025	broad.mit.edu	37	chr19	9076901	9076901	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagatgaagtctgagatagAtgcccagcagtaggggcaat	15	6	1	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:9076901A>G	uc002mkp.2	-	3	10749	c.10545T>C	c.(10543-10545)CAT>CAC	p.H3515H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3516	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCTGAGATAGATGCCCAGCAG	0.517													G	9076901	A	G	9076901	2	3	61	1	0	0	0	0	0	0	0	1	9973	330	12	3		3	MUC16	19	9076901	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	144211	9076901	50052082	692	44478											
MUC16	94025	broad.mit.edu	37	chr19	9082878	9082878	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagggtcccctgttcctgaAgtggggactctgggttcatg	14	10	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:9082878A>C	uc002mkp.2	-	1	9141	c.8937T>G	c.(8935-8937)ACT>ACG	p.T2979T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2980	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTGTTCCTGAAGTGGGGACTC	0.502													C	9082878	A	C	9082878	2	2	61	1	0	0	0	0	0	0	0	1	9973	59	3	5		5	MUC16	19	9082878	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	5977	9082878	50046105	693	44479											
MUC16	94025	broad.mit.edu	37	chr19	9085752	9085752	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgtgctgcttccagaAgagactgaattctcatgggt	13	7	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:9085752A>G	uc002mkp.2	-	1	6267	c.6063T>C	c.(6061-6063)TCT>TCC	p.S2021S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2021	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGCTTCCAGAAGAGACTGAAT	0.468													G	9085752	A	G	9085752	2	3	61	1	0	0	0	0	0	0	0	1	9973	59	3	3		3	MUC16	19	9085752	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	2874	9085752	50043231	694	44480											
ZNF121	7675	broad.mit.edu	37	chr19	9677679	9677679	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcatcacagtcataagtgTcccctgtattttcagttccc	5	13	4	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:9677679T>C	uc010xkp.1	-	4	342	c.110A>G	c.(109-111)GAC>GGC	p.D37G	ZNF121_uc010dwt.2_Missense_Mutation_p.D37G|ZNF121_uc010xkq.1_Missense_Mutation_p.D37G	NM_001008727	NP_001008727	P58317	ZN121_HUMAN	zinc finger protein 121	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GTCATAAGTGTCCCCTGTATT	0.438													C	9677679	T	C	9677679	3	2	61	1	0	0	0	0	1	0	0	0	17716	1667	58	3	1066	3	ZNF121	19	9677679	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	591927	9677679	49451304	695	44481											
FBXL12	54850	broad.mit.edu	37	chr19	9921757	9921757	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agtgggggagggcatttctgGggtgacgaggggaccctgca	20	7	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:9921757G>C	uc002mme.2	-	3	1038	c.796C>G	c.(796-798)CCA>GCA	p.P266A	FBXL12_uc002mmd.2_Missense_Mutation_p.P213A|FBXL12_uc002mmf.2_Missense_Mutation_p.P213A|FBXL12_uc002mmg.2_Missense_Mutation_p.P213A|FBXL12_uc002mmh.2_Missense_Mutation_p.P213A	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	266	LRR 8.						protein binding			lung(1)|kidney(1)	2						GGCATTTCTGGGGTGACGAGG	0.662													C	9921757	G	C	9921757	3	2	61	1	0	0	0	0	1	0	0	0	5708	1232	43	5	188	5	FBXL12	19	9921757	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	244078	9921757	49207226	696	44482											
DNMT1	1786	broad.mit.edu	37	chr19	10250779	10250779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaggtgcgcgaattgaagCggttcatgccgctgaagccc	14	10	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:10250779C>T	uc002mng.2	-	32	3881	c.3701G>A	c.(3700-3702)CGC>CAC	p.R1234H	DNMT1_uc002mne.2_RNA|DNMT1_uc002mnf.2_Missense_Mutation_p.R158H|DNMT1_uc010xlc.1_Missense_Mutation_p.R1250H|DNMT1_uc002mnh.2_Missense_Mutation_p.R1129H|DNMT1_uc010xld.1_Missense_Mutation_p.R1234H	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	1234	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CGAATTGAAGCGGTTCATGCC	0.642													T	10250779	C	T	10250779	3	4	61	1	0	0	0	0	1	0	0	0	4675	768	27	1	1185	1	DNMT1	19	10250779	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	329022	10250779	48878204	697	44483											
YIPF2	78992	broad.mit.edu	37	chr19	11034007	11034007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcaaggtaggggacagcGcgatgtttgagggcagagat	19	6	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:11034007G>A	uc002mqb.2	-	9	1035	c.911C>T	c.(910-912)GCG>GTG	p.A304V	YIPF2_uc002mqc.2_Missense_Mutation_p.A304V	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	304	Lumenal (Potential).					integral to membrane|transport vesicle					0						AGGGGACAGCGCGATGTTTGA	0.627													A	11034007	G	A	11034007	3	1	61	1	0	0	0	0	1	0	0	0	17475	1087	38	1	43	1	YIPF2	19	11034007	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	783228	11034007	48094976	698	44484											
DOCK6	57572	broad.mit.edu	37	chr19	11363483	11363483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttggggatcccgggctccGtggtccggcattcccggggc	16	15	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:11363483G>A	uc002mqs.3	-	3	325	c.284C>T	c.(283-285)ACG>ATG	p.T95M		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	95					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CCCGGGCTCCGTGGTCCGGCA	0.607													A	11363483	G	A	11363483	3	1	61	1	0	0	0	0	1	0	0	0	4691	1145	40	1	6043	1	DOCK6	19	11363483	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	329476	11363483	47765500	699	44485											
ECSIT	51295	broad.mit.edu	37	chr19	11624073	11624073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaatcagcaggaactccGtctccttgttgggcatcaca	9	12	4	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:11624073G>A	uc002msb.2	-	4	670	c.536C>T	c.(535-537)ACG>ATG	p.T179M	ECSIT_uc002msa.1_RNA|ECSIT_uc010dyc.1_Missense_Mutation_p.T179M|ECSIT_uc010dyd.2_Missense_Mutation_p.T179M|ECSIT_uc010xma.1_Intron	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	evolutionarily conserved signaling intermediate	179					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			ovary(1)	1						CAGGAACTCCGTCTCCTTGTT	0.537													A	11624073	G	A	11624073	3	1	61	1	0	0	0	0	1	0	0	0	4900	1145	40	1	779	1	ECSIT	19	11624073	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	260590	11624073	47504910	700	44486											
GIPC1	10755	broad.mit.edu	37	chr19	14593698	14593698	+	Frame_Shift_Del	DEL	C	C	-													tccgcccagaggccctggctCccccacgcccagccctccac							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:14593698delC	uc002myt.2	-	4	361	c.91delG	c.(91-93)GAGfs	p.E31fs	GIPC1_uc002myu.2_Frame_Shift_Del_p.E31fs|GIPC1_uc002myv.2_Intron|GIPC1_uc002myw.2_Intron|GIPC1_uc002myx.2_Frame_Shift_Del_p.E31fs|GIPC1_uc002myy.2_Intron	NM_005716	NP_005707	O14908	GIPC1_HUMAN	regulator of G-protein signalling 19 interacting	31					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding				0						GGCCCTGGCTCCCCCACGCCC	0.726													-	14593698	C	-	14593698	7	5	61	1	0	1	0	1	0	0	0	0	6392	864	30	0	934	0	GIPC1	19	14593698	Frame_Shift_Del	DEL	C	TCGA-BR-8059-01A-11D-2340-08	2969625	14593698	44535285	701	44487											
ZNF333	84449	broad.mit.edu	37	chr19	14829686	14829686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgtggcaagcccttccGgacgagcactcatctgaacg	11	14	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:14829686G>A	uc002mzn.2	+	12	1681	c.1547G>A	c.(1546-1548)CGG>CAG	p.R516Q	ZNF333_uc002mzk.3_Missense_Mutation_p.R407Q	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	zinc finger protein 333	516	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R516W(1)		ovary(1)|central_nervous_system(1)|pancreas(1)	3						AAGCCCTTCCGGACGAGCACT	0.517													A	14829686	G	A	14829686	3	1	61	1	0	0	0	0	1	0	0	0	17847	1116	39	1	1589	1	ZNF333	19	14829686	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	235988	14829686	44299297	702	44488											
EMR2	30817	broad.mit.edu	37	chr19	14877174	14877174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggcatgggttttgtccGgaggtgcattcattcacatc	12	9	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:14877174G>A	uc002mzp.1	-	7	963	c.507C>T	c.(505-507)TCC>TCT	p.S169S	EMR2_uc010dzs.1_5'Flank|EMR2_uc010xnw.1_Silent_p.S169S|EMR2_uc002mzo.1_Silent_p.S169S|EMR2_uc002mzq.1_Intron|EMR2_uc002mzr.1_Intron|EMR2_uc002mzs.1_Intron|EMR2_uc002mzt.1_Intron|EMR2_uc002mzu.1_Intron|EMR2_uc010xnx.1_Intron|EMR2_uc010xny.1_Intron	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	169	EGF-like 4; calcium-binding (Potential).|Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4						GGTTTTGTCCGGAGGTGCATT	0.627													A	14877174	G	A	14877174	2	1	61	1	0	0	0	0	0	0	0	1	5105	1103	39	1		1	EMR2	19	14877174	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	47488	14877174	44251809	703	44489											
SYDE1	85360	broad.mit.edu	37	chr19	15224418	15224418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcgcgccttacttgcgaCccaaacgacagccacctctg	8	16	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:15224418C>T	uc002nah.1	+	8	1883	c.1852C>T	c.(1852-1854)CCC>TCC	p.P618S	SYDE1_uc002nai.1_Missense_Mutation_p.P551S|SYDE1_uc002naj.1_Missense_Mutation_p.P275S	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1	618					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|pancreas(1)	2						TTACTTGCGACCCAAACGACA	0.642													T	15224418	C	T	15224418	3	4	61	1	0	0	0	0	1	0	0	0	15432	507	18	4	1882	4	SYDE1	19	15224418	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	347244	15224418	43904565	704	44490											
NOTCH3	4854	broad.mit.edu	37	chr19	15290911	15290911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagccccccatatagccaCggcaggtccccccatgctgg	10	17	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:15290911C>T	uc002nan.2	-	20	3375	c.3299G>A	c.(3298-3300)CGT>CAT	p.R1100H	NOTCH3_uc002nao.1_Missense_Mutation_p.R1048H	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1100	Extracellular (Potential).|EGF-like 28.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CATATAGCCACGGCAGGTCCC	0.642													T	15290911	C	T	15290911	3	4	61	1	0	0	0	0	1	0	0	0	10550	536	19	1	3722	1	NOTCH3	19	15290911	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	66493	15290911	43838072	705	44491											
MAST3	23031	broad.mit.edu	37	chr19	18252811	18252811	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtggactatggccgccggctGagtgctgacatccggtaagt	15	10	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:18252811G>A	uc002nhz.3	+	20	2238	c.2238G>A	c.(2236-2238)CTG>CTA	p.L746L		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	746							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						GCCGCCGGCTGAGTGCTGACA	0.597													A	18252811	G	A	18252811	2	1	61	1	0	0	0	0	0	0	0	1	9326	1277	45	4		4	MAST3	19	18252811	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	2961900	18252811	40876172	706	44492											
ISYNA1	51477	broad.mit.edu	37	chr19	18546466	18546466	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcttgctgtcacccacgtaCggcacatacttgatgaccac	8	15	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:18546466C>T	uc002njd.1	-	9	1211	c.1161G>A	c.(1159-1161)CCG>CCA	p.P387P	ISYNA1_uc002nja.1_Silent_p.P259P|ISYNA1_uc002njb.1_Silent_p.P305P|ISYNA1_uc002njc.1_Silent_p.P237P|ISYNA1_uc010xqh.1_Silent_p.P185P|ISYNA1_uc002nje.1_Silent_p.P333P|ISYNA1_uc002njf.1_Silent_p.P237P	NM_016368	NP_057452	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	387					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			ovary(1)|pancreas(1)	2						CACCCACGTACGGCACATACT	0.557													T	18546466	C	T	18546466	2	4	61	1	0	0	0	0	0	0	0	1	7867	523	19	1		1	ISYNA1	19	18546466	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	293655	18546466	40582517	707	44493											
TSSK6	83983	broad.mit.edu	37	chr19	19626213	19626213	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcttataaccgagttcGctcagaagtttgtctcccga	8	13	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:19626213G>A	uc002nmr.2	-	1	257	c.24C>T	c.(22-24)AGC>AGT	p.S8S	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	8					multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1						AACCGAGTTCGCTCAGAAGTT	0.622													A	19626213	G	A	19626213	2	1	61	1	0	0	0	0	0	0	0	1	16669	1078	38	1		1	TSSK6	19	19626213	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1079747	19626213	39502770	708	44494											
ATP13A1	57130	broad.mit.edu	37	chr19	19767528	19767528	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctacgatgcagcggcctcGcagcagaagcacgtcacatg	12	13	2	1	rs144897534		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:19767528G>A	uc002nnh.3	-	7	1052	c.1024C>T	c.(1024-1026)CGA>TGA	p.R342*	ATP13A1_uc002nnf.3_5'Flank|ATP13A1_uc002nng.2_Nonsense_Mutation_p.R224*	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	342	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						CAGCGGCCTCGCAGCAGAAGC	0.647													A	19767528	G	A	19767528	4	1	61	1	0	0	0	0	0	1	0	0	1123	1095	38	1	2670	1	ATP13A1	19	19767528	Nonsense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	141315	19767528	39361455	709	44495											
RHPN2	85415	broad.mit.edu	37	chr19	33512524	33512524	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttcgtttccttcaggccaaGaggaatcaggggaatcgtaa	11	8	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:33512524G>C	uc002nuf.2	-	4	409	c.343C>G	c.(343-345)CTT>GTT	p.L115V	RHPN2_uc010xro.1_Intron|RHPN2_uc002nue.2_5'UTR	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	115	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			central_nervous_system(5)|ovary(1)	6	Esophageal squamous(110;0.137)					TTCAGGCCAAGAGGAATCAGG	0.517													C	33512524	G	C	33512524	3	2	61	1	0	0	0	0	1	0	0	0	13351	942	33	5	1765	5	RHPN2	19	33512524	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	13744996	33512524	25616459	710	44496											
ZNF30	90075	broad.mit.edu	37	chr19	35422801	35422801	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catttgaggatgtggccataGccttctcccagcaggagtgg	13	10	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:35422801G>T	uc010edp.1	+	3	442	c.64G>T	c.(64-66)GCC>TCC	p.A22S	ZNF30_uc002nxf.2_5'UTR|ZNF30_uc010edq.1_Missense_Mutation_p.A22S|ZNF30_uc010edr.1_Missense_Mutation_p.A22S	NM_194325	NP_919306	P17039	ZNF30_HUMAN	zinc finger protein 30 isoform b	22	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		TGTGGCCATAGCCTTCTCCCA	0.463													T	35422801	G	T	35422801	3	4	61	1	0	0	0	0	1	0	0	0	17827	971	34	5	70	5	ZNF30	19	35422801	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1910277	35422801	23706182	711	44497											
FFAR2	2867	broad.mit.edu	37	chr19	35941244	35941244	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtggatcatgctctcccagCcccttgtgggggcccagagg	14	13	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:35941244C>G	uc002nzg.2	+	2	708	c.628C>G	c.(628-630)CCC>GCC	p.P210A	FFAR2_uc010eea.2_Missense_Mutation_p.P210A	NM_005306	NP_005297	O15552	FFAR2_HUMAN	free fatty acid receptor 2	210	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding			central_nervous_system(1)	1	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCTCTCCCAGCCCCTTGTGGG	0.627													G	35941244	C	G	35941244	3	3	61	1	0	0	0	0	1	0	0	0	5828	739	26	5	630	5	FFAR2	19	35941244	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	518443	35941244	23187739	712	44498											
U2AF1L4	199746	broad.mit.edu	37	chr19	36234944	36234944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcgacagcatgactcccGgaagtcagtgacaggagaca	13	11	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:36234944G>A	uc002obg.2	-	5	466	c.157C>T	c.(157-159)CGG>TGG	p.R53W	TMEM149_uc002obb.2_5'Flank|TMEM149_uc002obc.2_5'Flank|TMEM149_uc002obd.3_5'Flank|TMEM149_uc010xsy.1_5'Flank|TMEM149_uc010eej.2_Intron|U2AF1L4_uc002obh.1_Intron|U2AF1L4_uc002obe.2_Missense_Mutation_p.R112W|U2AF1L4_uc002obf.2_Intron|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank			Q8WU68	U2AF4_HUMAN	Homo sapiens cDNA FLJ35525 fis, clone SPLEN2001650.	151	C3H1-type 2.				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CATGACTCCCGGAAGTCAGTG	0.592													A	36234944	G	A	36234944	3	1	61	1	0	0	0	0	1	0	0	0	16819	1115	39	1	344	1	U2AF1L4	19	36234944	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	293700	36234944	22894039	713	44499											
ARHGAP33	115703	broad.mit.edu	37	chr19	36271949	36271949	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttggctgcgatcttggcgaGcacctcagcaactcaggcca	11	13	3	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:36271949G>T	uc002obr.1	+	11	1042	c.957G>T	c.(955-957)GAG>GAT	p.E319D	ARHGAP33_uc002obs.1_Missense_Mutation_p.E319D|ARHGAP33_uc002obt.1_Missense_Mutation_p.E183D|ARHGAP33_uc010eel.2_5'Flank|ARHGAP33_uc002obv.1_5'Flank	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	319	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						ATCTTGGCGAGCACCTCAGCA	0.697													T	36271949	G	T	36271949	3	4	61	1	0	0	0	0	1	0	0	0	882	962	34	5	999	5	ARHGAP33	19	36271949	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	37005	36271949	22857034	714	44500											
PRODH2	58510	broad.mit.edu	37	chr19	36304127	36304127	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatacggttctcacgtttgtAatcccaacactttgggaggc	9	10	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:36304127A>G	uc002obx.1	-	1	75	c.57T>C	c.(55-57)ATT>ATC	p.I19I		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	kidney and liver proline oxidase 1	19					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			ovary(2)	2	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			tcacgtttgtaatcccaacac	0													G	36304127	A	G	36304127	2	3	61	1	0	0	0	0	0	0	0	1	12549	358	13	3		3	PRODH2	19	36304127	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	32178	36304127	22824856	715	44501											
NPHS1	4868	broad.mit.edu	37	chr19	36332672	36332672	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagggcgttggtggctgtAcatgtgaagagggcgtaatc	16	7	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:36332672A>G	uc002oby.2	-	20	2760	c.2760T>C	c.(2758-2760)TGT>TGC	p.C920C	NPHS1_uc010eem.1_5'Flank	NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	920	Ig-like C2-type 8.|Extracellular (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGTGGCTGTACATGTGAAGA	0.587													G	36332672	A	G	36332672	2	3	61	1	0	0	0	0	0	0	0	1	10582	389	14	3		3	NPHS1	19	36332672	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	28545	36332672	22796311	716	44502											
ZNF790	388536	broad.mit.edu	37	chr19	37310520	37310520	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatgaattctcttatgaccAgtaagactcgaacgtaaact	7	8	1	3	rs34171890		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:37310520A>G	uc002oew.2	-	5	845	c.726T>C	c.(724-726)ACT>ACC	p.T242T	uc002oev.1_Intron	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	zinc finger protein 790	242	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCTTATGACCAGTAAGACTCG	0.348													G	37310520	A	G	37310520	2	3	61	1	0	0	0	0	0	0	0	1	18159	175	7	3		3	ZNF790	19	37310520	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	977848	37310520	21818463	717	44503											
ZFP30	22835	broad.mit.edu	37	chr19	38134164	38134164	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctgcctgatcagcacttAcctagagtccatcttctttt	5	14	4	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:38134164A>G	uc002ogv.1	-	5	751	c.235_splice	c.e5+1	p.D79_splice	ZFP30_uc002ogw.1_Splice_Site_p.D79_splice|ZFP30_uc002ogx.1_Splice_Site_p.D79_splice|ZFP30_uc010xtt.1_Splice_Site_p.D78_splice	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATCAGCACTTACCTAGAGTCC	0.488													G	38134164	A	G	38134164	5	3	61	1	0	0	0	0	0	0	1	0	17641	405	14	3	1330	3	ZFP30	19	38134164	Splice_Site	SNP	A	TCGA-BR-8059-01A-11D-2340-08	823644	38134164	20994819	718	44504											
ZNF781	163115	broad.mit.edu	37	chr19	38160451	38160451	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacattcctgacattcataAgatttctcattagtatgagt	5	7	2	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:38160451A>C	uc002ogy.2	-	4	1341	c.599T>G	c.(598-600)CTT>CGT	p.L200R	ZNF781_uc002ogz.2_Missense_Mutation_p.L195R	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GACATTCATAAGATTTCTCAT	0.358													C	38160451	A	C	38160451	3	2	61	1	0	0	0	0	1	0	0	0	18151	72	3	5	388	5	ZNF781	19	38160451	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	26287	38160451	20968532	719	44505											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572964	38572964	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcccacacctcatggggggCggcggcggagccaaggggga	20	12	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:38572964C>G	uc002ohk.2	+	3	1268	c.759C>G	c.(757-759)GGC>GGG	p.G253G		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	253					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCATGGGGGGCGGCGGCGGAG	0.692													G	38572964	C	G	38572964	2	3	61	1	0	0	0	0	0	0	0	1	14331	755	27	5		5	SIPA1L3	19	38572964	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	412513	38572964	20556019	720	44506											
CATSPERG	57828	broad.mit.edu	37	chr19	38861356	38861356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgagacattccaggatggGctccatgttcagctccagga	11	11	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:38861356G>A	uc002oih.3	+	29	3491	c.3404G>A	c.(3403-3405)GGC>GAC	p.G1135D	CATSPERG_uc002oig.3_Missense_Mutation_p.G1095D|CATSPERG_uc002oif.3_Missense_Mutation_p.G775D|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	1135	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						TCCAGGATGGGCTCCATGTTC	0.557													A	38861356	G	A	38861356	3	1	61	1	0	0	0	0	1	0	0	0	2692	1203	42	2	3514	2	CATSPERG	19	38861356	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	288392	38861356	20267627	721	44507											
FAM98C	147965	broad.mit.edu	37	chr19	38895639	38895639	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccccttggtgaaggggtAgtggagggagccggcatggt	18	9	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:38895639A>C	uc002oin.1	+	4	460	c.441A>C	c.(439-441)GTA>GTC	p.V147V	FAM98C_uc002oio.1_Silent_p.V147V|FAM98C_uc010xtz.1_Intron	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	hypothetical protein LOC147965	147										skin(1)	1	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTGAAGGGGTAGTGGAGGGAG	0.647													C	38895639	A	C	38895639	2	2	61	1	0	0	0	0	0	0	0	1	5658	407	15	5		5	FAM98C	19	38895639	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	34283	38895639	20233344	722	44508											
SARS2	54938	broad.mit.edu	37	chr19	39412279	39412279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccggatctcccggccaCgtgcccgcagaccctggtac	10	19	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:39412279C>T	uc002oka.2	-	4	582	c.422G>A	c.(421-423)CGT>CAT	p.R141H	SARS2_uc002ojz.2_Intron|SARS2_uc010xup.1_Intron|SARS2_uc002okb.2_Missense_Mutation_p.R141H|SARS2_uc010xuq.1_Missense_Mutation_p.R141H|SARS2_uc010xur.1_RNA|SARS2_uc010xus.1_3'UTR	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2 isoform b precursor	141					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTCCCGGCCACGTGCCCGCAG	0.647													T	39412279	C	T	39412279	3	4	61	1	0	0	0	0	1	0	0	0	13845	536	19	1	1186	1	SARS2	19	39412279	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	516640	39412279	19716704	723	44509											
LTBP4	8425	broad.mit.edu	37	chr19	41114169	41114169	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctggtcctggttaccactaCtcggcctccgacctccgcta	9	17	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:41114169C>G	uc002ooh.1	+	11	1401	c.1401C>G	c.(1399-1401)TAC>TAG	p.Y467*	LTBP4_uc002oog.1_Nonsense_Mutation_p.Y430*|LTBP4_uc002ooi.1_Nonsense_Mutation_p.Y400*|LTBP4_uc002ooj.1_5'Flank|LTBP4_uc010xvo.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	467					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTTACCACTACTCGGCCTCCG	0.617													G	41114169	C	G	41114169	4	3	61	1	0	0	0	0	0	1	0	0	9076	576	20	5	1736	5	LTBP4	19	41114169	Nonsense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1701890	41114169	18014814	724	44510											
EXOSC5	56915	broad.mit.edu	37	chr19	41892595	41892595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaaacggaagacgtgttgCgaagcggcctgggccgcagc	16	10	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:41892595C>T	uc002oqo.2	-	6	674	c.651G>A	c.(649-651)TCG>TCA	p.S217S	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Intron	NM_020158	NP_064543	Q9NQT4	EXOS5_HUMAN	exosome component Rrp46	217					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding				0						AGACGTGTTGCGAAGCGGCCT	0.657													T	41892595	C	T	41892595	2	4	61	1	0	0	0	0	0	0	0	1	5318	755	27	1		1	EXOSC5	19	41892595	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	778426	41892595	17236388	725	44511											
ATP1A3	478	broad.mit.edu	37	chr19	42486220	42486220	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggttcttcaccaggcagttCttccgggccatgcgcttggc	12	13	3	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:42486220C>A	uc002osg.2	-	9	1186	c.1032G>T	c.(1030-1032)AAG>AAT	p.K344N	ATP1A3_uc010xwf.1_Missense_Mutation_p.K355N|ATP1A3_uc010xwg.1_Missense_Mutation_p.K314N|ATP1A3_uc010xwh.1_Missense_Mutation_p.K357N|ATP1A3_uc002osh.2_Missense_Mutation_p.K344N	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	344	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						ccaggcagttcttccGGGCCA	0.473													A	42486220	C	A	42486220	3	1	61	1	0	0	0	0	1	0	0	0	1130	912	32	5	2069	5	ATP1A3	19	42486220	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	593625	42486220	16642763	726	44512											
PLAUR	5329	broad.mit.edu	37	chr19	44174241	44174241	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacgcaggtgtggagcagcAgcagcagcggcagcagcggc	19	11	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:44174241A>G	uc002oxf.1	-	1	262	c.32T>C	c.(31-33)CTG>CCG	p.L11P	PLAUR_uc002oxd.1_Missense_Mutation_p.L11P|PLAUR_uc002oxe.1_5'Flank|PLAUR_uc002oxg.1_Missense_Mutation_p.L11P	NM_002659	NP_002650	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	11					attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			ovary(1)	1		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	GTGGagcagcagcagcagcgg	0.562													G	44174241	A	G	44174241	3	3	61	1	0	0	0	0	1	0	0	0	12023	188	7	3	1099	3	PLAUR	19	44174241	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	1688021	44174241	14954742	727	44513											
CLPTM1	1209	broad.mit.edu	37	chr19	45476381	45476381	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcagcagttggttccgcCgagggccggcccctcaggac	13	16	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:45476381C>T	uc002pai.2	+	3	238	c.223C>T	c.(223-225)CGA>TGA	p.R75*	CLPTM1_uc010ejv.1_5'UTR|CLPTM1_uc010xxf.1_5'UTR|CLPTM1_uc010xxg.1_Nonsense_Mutation_p.R61*	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	75	Extracellular (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TTGGTTCCGCCGAGGGCCGGC	0.637													T	45476381	C	T	45476381	4	4	61	1	0	0	0	0	0	1	0	0	3554	644	23	1	233	1	CLPTM1	19	45476381	Nonsense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1302140	45476381	13652602	728	44514											
PPP1R13L	10848	broad.mit.edu	37	chr19	45885799	45885799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaccccgaagtagttccGcggcacgtagccctcctggc	11	17	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:45885799G>A	uc002pbn.2	-	12	2511	c.2434C>T	c.(2434-2436)CGG>TGG	p.R812W	PPP1R13L_uc002pbm.2_Missense_Mutation_p.R391W|PPP1R13L_uc002pbo.2_Missense_Mutation_p.R812W	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	812	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AAGTAGTTCCGCGGCACGTAG	0.672													A	45885799	G	A	45885799	3	1	61	1	0	0	0	0	1	0	0	0	12358	1086	38	1	60	1	PPP1R13L	19	45885799	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	409418	45885799	13243184	729	44515											
SIX5	147912	broad.mit.edu	37	chr19	46269299	46269299	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaggtggcggtgaggatgatCttgccctgctgcagggccac	16	10	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:46269299C>G	uc002pdb.2	-	3	2075	c.1680G>C	c.(1678-1680)AAG>AAC	p.K560N	SIX5_uc002pdc.2_Missense_Mutation_p.D292H	NM_175875	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	560						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		TGAGGATGATCTTGCCCTGCT	0.672													G	46269299	C	G	46269299	3	3	61	1	0	0	0	0	1	0	0	0	14350	912	32	5	543	5	SIX5	19	46269299	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	383500	46269299	12859684	730	44516											
HIF3A	64344	broad.mit.edu	37	chr19	46815865	46815865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtggtgtcagggggacGgggcccccagtcggagagta	18	10	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:46815865G>A	uc002peh.2	+	8	1009	c.980G>A	c.(979-981)CGG>CAG	p.R327Q	HIF3A_uc002pef.1_3'UTR|HIF3A_uc002peg.3_Missense_Mutation_p.R327Q|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.R271Q|HIF3A_uc002pej.1_Missense_Mutation_p.R258Q|HIF3A_uc002pek.2_Missense_Mutation_p.R271Q|HIF3A_uc010xxy.1_Missense_Mutation_p.R258Q|HIF3A_uc002pel.2_Missense_Mutation_p.R325Q|HIF3A_uc010xxz.1_Missense_Mutation_p.R276Q	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TCAGGGGGACGGGGCCCCCAG	0.617													A	46815865	G	A	46815865	3	1	61	1	0	0	0	0	1	0	0	0	7105	1116	39	1	1034	1	HIF3A	19	46815865	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	546566	46815865	12313118	731	44517											
PRKD2	25865	broad.mit.edu	37	chr19	47207644	47207644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggagttcggtggtgctaCggctctgtcgttggcaagaa	16	8	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:47207644C>T	uc002pfh.2	-	6	1013	c.671G>A	c.(670-672)CGT>CAT	p.R224H	PRKD2_uc002pfg.2_Missense_Mutation_p.R67H|PRKD2_uc002pfi.2_Missense_Mutation_p.R224H|PRKD2_uc002pfj.2_Missense_Mutation_p.R224H|PRKD2_uc010xye.1_Missense_Mutation_p.R224H|PRKD2_uc002pfk.2_Missense_Mutation_p.R67H	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	224					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGTGGTGCTACGGCTCTGTCG	0.627											OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	47207644	C	T	47207644	3	4	61	1	0	0	0	0	1	0	0	0	12519	536	19	1	2021	1	PRKD2	19	47207644	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	391779	47207644	11921339	732	44518											
NPAS1	4861	broad.mit.edu	37	chr19	47524418	47524418	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgatggtcaaggcgccgtcCggaccgtggtgagcaaagcc	15	12	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:47524418C>A	uc002pfw.2	+	2	310	c.114C>A	c.(112-114)TCC>TCA	p.S38S	NPAS1_uc002pfx.2_Intron|NPAS1_uc002pfy.2_Silent_p.S38S	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	38					central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		AGGCGCCGTCCGGACCGTGGT	0.542													A	47524418	C	A	47524418	2	1	61	1	0	0	0	0	0	0	0	1	10562	639	23	5		5	NPAS1	19	47524418	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	316774	47524418	11604565	733	44519											
TBC1D17	79735	broad.mit.edu	37	chr19	50383626	50383626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgtcatcagcactgtgCggccacagctctgccactca	11	15	4	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:50383626C>T	uc002pqo.2	+	4	438	c.286C>T	c.(286-288)CGG>TGG	p.R96W	AKT1S1_uc002pqm.3_5'Flank|TBC1D17_uc010enn.1_RNA|TBC1D17_uc010ybg.1_Missense_Mutation_p.R63W|TBC1D17_uc002pqp.2_5'UTR|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_5'UTR|TBC1D17_uc002pqs.2_5'Flank	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	96						intracellular	Rab GTPase activator activity				0		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CAGCACTGTGCGGCCACAGCT	0.597													T	50383626	C	T	50383626	3	4	61	1	0	0	0	0	1	0	0	0	15603	759	27	1	300	1	TBC1D17	19	50383626	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2859208	50383626	8745357	734	44520											
SIGLEC9	27180	broad.mit.edu	37	chr19	51629040	51629040	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctcaccctcatcccacAgccccaggaccatggcacca	8	19	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:51629040A>C	uc002pvu.2	+	2	675	c.608A>C	c.(607-609)CAG>CCG	p.Q203P	SIGLEC9_uc010yct.1_Missense_Mutation_p.Q203P	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9 precursor	203	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTCATCCCACAGCCCCAGGAC	0.642													C	51629040	A	C	51629040	3	2	61	1	0	0	0	0	1	0	0	0	14315	188	7	5	614	5	SIGLEC9	19	51629040	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	1245414	51629040	7499943	735	44521											
ZNF701	55762	broad.mit.edu	37	chr19	53086002	53086002	+	Frame_Shift_Del	DEL	A	A	-													tttaatggtagctcactcttAaaaaaacatcagataatcca							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:53086001_53086001TA>T	uc010ydn.2	+	4	950	c.887_887TA>T	c.(886-888)ttafs	p.L296fs	ZNF701_uc002pzs.2_Frame_Shift_Del_p.L230fs|ZNF701_uc021uyw.1_Frame_Shift_Del_p.L296fs	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AGCTCACTCTTAAAAAAACAT	0.388													-	53086002	A	-	53086002	7	5	61	1	0	1	0	1	0	0	0	0	18102	359	13	0	902	0	ZNF701	19	53086002	Frame_Shift_Del	DEL	A	TCGA-BR-8059-01A-11D-2340-08	1456962	53086002	6042981	736	44522											
NLRP12	91662	broad.mit.edu	37	chr19	54327332	54327332	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccagctctgtcgcggtccCcaggtataacttgaacttct	8	14	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:54327332C>A	uc002qch.3	-	1	317	c.97G>T	c.(97-99)GGG>TGG	p.G33W	NLRP12_uc002qci.3_Missense_Mutation_p.G33W|NLRP12_uc002qcj.3_Missense_Mutation_p.G33W|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.G33W	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	33	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GTCGCGGTCCCCAGGTATAAC	0.607													A	54327332	C	A	54327332	3	1	61	1	0	0	0	0	1	0	0	0	10474	623	22	5	3224	5	NLRP12	19	54327332	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1241330	54327332	4801651	737	44523											
MYADM	91663	broad.mit.edu	37	chr19	54377623	54377623	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagagatgtaagctgcagCcgcagccatgcctactacgt	11	12	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:54377623C>T	uc002qcl.2	+	3	988	c.840C>T	c.(838-840)AGC>AGT	p.S280S	MYADM_uc002qcm.2_Silent_p.S280S|MYADM_uc002qcn.2_Silent_p.S280S|MYADM_uc002qco.2_Silent_p.S280S|MYADM_uc002qcp.2_Silent_p.S280S	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	280	MARVEL 2.					integral to membrane				ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TAAGCTGCAGCCGCAGCCATG	0.617													T	54377623	C	T	54377623	2	4	61	1	0	0	0	0	0	0	0	1	10006	738	26	2		2	MYADM	19	54377623	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	50291	54377623	4751360	738	44524											
LENG8	114823	broad.mit.edu	37	chr19	54966670	54966670	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaccgcacggaaaagctgCtcaaggaggtgctgcaggcg	16	10	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:54966670C>A	uc002qfv.1	+	7	982	c.838C>A	c.(838-840)CTC>ATC	p.L280I	LENG8_uc002qfw.2_Missense_Mutation_p.L317I			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	280							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGAAAAGCTGCTCAAGGAGGT	0.632													A	54966670	C	A	54966670	3	1	61	1	0	0	0	0	1	0	0	0	8724	797	28	5	975	5	LENG8	19	54966670	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	589047	54966670	4162313	739	44525											
NLRP7	199713	broad.mit.edu	37	chr19	55451393	55451393	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcagatgtcctggatcAgcgccccaggtgggactttc	12	15	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:55451393A>G	uc002qih.3	-	4	870	c.794T>C	c.(793-795)CTG>CCG	p.L265P	NLRP7_uc002qig.3_Missense_Mutation_p.L265P|NLRP7_uc002qii.3_Missense_Mutation_p.L265P|NLRP7_uc010esk.2_Missense_Mutation_p.L265P|NLRP7_uc010esl.2_Missense_Mutation_p.L293P	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	265	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		GTCCTGGATCAGCGCCCCAGG	0.572													G	55451393	A	G	55451393	3	3	61	1	0	0	0	0	1	0	0	0	10482	188	7	3	2351	3	NLRP7	19	55451393	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	484723	55451393	3677590	740	44526											
NLRP4	147945	broad.mit.edu	37	chr19	56370249	56370249	+	Frame_Shift_Del	DEL	T	T	-													agcaaggagagcacattggaTttttttggggtgttttctaa							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:56370248_56370248AT>A	uc002qmd.4	+	2	1911	c.1489_1489AT>A	c.(1489-1491)attfs	p.I497fs	NLRP4_uc002qmf.3_Frame_Shift_Del_p.I422fs|NLRP4_uc010etf.3_Frame_Shift_Del_p.I328fs	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	497							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGCACATTGGATTTTTTTGGG	0.408													-	56370249	T	-	56370249	7	5	61	1	0	1	0	1	0	0	0	0	10479	1493	52	0	1496	0	NLRP4	19	56370249	Frame_Shift_Del	DEL	T	TCGA-BR-8059-01A-11D-2340-08	918856	56370249	2758734	741	44527											
NLRP13	126204	broad.mit.edu	37	chr19	56423312	56423312	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagaggcactttcagccttaCctaactcttctccccacttt	5	15	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:56423312C>G	uc010ygg.1	-	5	1896	c.1871G>C	c.(1870-1872)GGT>GCT	p.G624A		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	624							ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTCAGCCTTACCTAACTCTTC	0.403													G	56423312	C	G	56423312	3	3	61	1	0	0	0	0	1	0	0	0	10475	507	18	5	1286	5	NLRP13	19	56423312	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	53063	56423312	2705671	742	44528											
ZNF582	147948	broad.mit.edu	37	chr19	56896485	56896485	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctttccattatctcccattGgggtgattcgacttcataaa	7	10	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:56896485G>T	uc002qmz.1	-	5	460	c.301C>A	c.(301-303)CAA>AAA	p.Q101K	ZNF582_uc002qmy.2_Missense_Mutation_p.Q132K	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	zinc finger protein 582	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|large_intestine(1)	4		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		ATCTCCCATTGGGGTGATTCG	0.383													T	56896485	G	T	56896485	3	4	61	1	0	0	0	0	1	0	0	0	18011	1357	47	5	1256	5	ZNF582	19	56896485	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	473173	56896485	2232498	743	44529											
PEG3	5178	broad.mit.edu	37	chr19	57328104	57328104	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactatgaaggaaggtttccTtacacaccctgcactcgtag	8	11	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:57328104T>G	uc002qnu.2	-	7	2057	c.1706A>C	c.(1705-1707)AAG>ACG	p.K569T	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.K540T|PEG3_uc002qnv.2_Missense_Mutation_p.K569T|PEG3_uc002qnw.2_Missense_Mutation_p.K445T|PEG3_uc002qnx.2_Missense_Mutation_p.K443T|PEG3_uc010etr.2_Missense_Mutation_p.K569T	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	569	C2H2-type 3.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAAGGTTTCCTTACACACCCT	0.368													G	57328104	T	G	57328104	3	3	61	1	0	0	0	0	1	0	0	0	11720	1609	56	5	3064	5	PEG3	19	57328104	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	431619	57328104	1800879	744	44530											
ZIM3	114026	broad.mit.edu	37	chr19	57646555	57646555	+	Frame_Shift_Del	DEL	T	T	-													gggcttttccccagtatggaTttttttatgttgaatgaggt							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:57646554_57646554AT>A	uc002qnz.1	-	4	1537	c.1151_1151AT>T	c.(1150-1152)atcfs	p.I384fs		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K383Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCAGTATGGATTTTTTTATG	0.388													-	57646555	T	-	57646555	7	5	61	1	0	1	0	1	0	0	0	0	17682	1493	52	0	272	0	ZIM3	19	57646555	Frame_Shift_Del	DEL	T	TCGA-BR-8059-01A-11D-2340-08	318451	57646555	1482428	745	44531											
ZNF304	57343	broad.mit.edu	37	chr19	57867521	57867521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacccatgtgagatgtgtgAcccactcttgaaagacattt	8	10	1	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:57867521A>G	uc010ygw.1	+	3	672	c.284A>G	c.(283-285)GAC>GGC	p.D95G	ZNF304_uc010etw.2_Missense_Mutation_p.D142G|ZNF304_uc010etx.2_Missense_Mutation_p.D53G	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	95	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GAGATGTGTGACCCACTCTTG	0.507													G	57867521	A	G	57867521	3	3	61	1	0	0	0	0	1	0	0	0	17830	275	10	3	294	3	ZNF304	19	57867521	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	220966	57867521	1261462	746	44532											
ZNF329	79673	broad.mit.edu	37	chr19	58640743	58640743	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attgcctcaagtgtccctccTggttctcacagtcccaacca	6	16	2	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr19:58640743T>A	uc002qrn.2	-	4	365	c.128A>T	c.(127-129)CAG>CTG	p.Q43L	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	43					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GTGTCCCTCCTGGTTCTCACA	0.468													A	58640743	T	A	58640743	3	1	61	1	0	0	0	0	1	0	0	0	17844	1580	55	5	1501	5	ZNF329	19	58640743	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	773222	58640743	488240	747	44533											
SLC4A11	83959	broad.mit.edu	37	chr20	3209270	3209270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttggggatccactgaagcGggaccggcagcagcaacagg	16	11	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr20:3209270G>A	uc002wig.2	-	17	2372	c.2324C>T	c.(2323-2325)CCG>CTG	p.P775L	SLC4A11_uc010zqe.1_Missense_Mutation_p.P802L|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.P759L	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	775	Membrane (bicarbonate transporter).|Helical; (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						CCACTGAAGCGGGACCGGCAG	0.672													A	3209270	G	A	3209270	3	1	61	1	0	0	0	0	1	0	0	0	14652	1116	39	1	363	1	SLC4A11	20	3209270	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08		3209270	59816250	748	44534											
SEC23B	10483	broad.mit.edu	37	chr20	18511371	18511371	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacacttctctcttcaagcAgacattccaaagaatcttta	3	12	4	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr20:18511371A>G	uc002wqz.1	+	10	1600	c.1157A>G	c.(1156-1158)CAG>CGG	p.Q386R	SEC23B_uc002wra.1_Missense_Mutation_p.Q386R|SEC23B_uc002wrb.1_Missense_Mutation_p.Q386R|SEC23B_uc010zsb.1_Missense_Mutation_p.Q368R|SEC23B_uc002wrc.1_Missense_Mutation_p.Q386R	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B	386			Q -> R.		ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1						CTCTTCAAGCAGACATTCCAA	0.338													G	18511371	A	G	18511371	3	3	61	1	0	0	0	0	1	0	0	0	13992	188	7	3	1191	3	SEC23B	20	18511371	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	15302101	18511371	44514149	749	44535											
PLK1S1	55857	broad.mit.edu	37	chr20	21143043	21143043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggaacatattgaagttgagGaaaaaagagccagcccgcca	12	8	0	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr20:21143043G>A	uc002wsb.2	+	5	1070	c.937G>A	c.(937-939)GAA>AAA	p.E313K	PLK1S1_uc010zsh.1_Missense_Mutation_p.E210K|PLK1S1_uc010zsi.1_Missense_Mutation_p.E180K|PLK1S1_uc010zsj.1_RNA|uc002wsc.2_Intron|PLK1S1_uc002wsd.2_RNA	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	polo-like kinase 1 substrate 1 isoform 1	313					spindle organization	centrosome	protein kinase binding				0						TGAAGTTGAGGAAAAAAGAGC	0.443													A	21143043	G	A	21143043	3	1	61	1	0	0	0	0	1	0	0	0	12095	1175	41	4	955	4	PLK1S1	20	21143043	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	2631672	21143043	41882477	750	44536											
NINL	22981	broad.mit.edu	37	chr20	25457060	25457060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggggtggctcccacatcCgtggctgggtttgcgaggcg	17	11	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr20:25457060C>T	uc002wux.1	-	17	2941	c.2867G>A	c.(2866-2868)CGG>CAG	p.R956Q	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	956					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						CTCCCACATCCGTGGCTGGGT	0.687													T	25457060	C	T	25457060	3	4	61	1	0	0	0	0	1	0	0	0	10420	652	23	1	1313	1	NINL	20	25457060	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	4314017	25457060	37568460	751	44537											
NINL	22981	broad.mit.edu	37	chr20	25485604	25485604	+	Frame_Shift_Del	DEL	C	C	-													caggtgtccgctgctgcccaCccccagctcttcccacacgc							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr20:25485603_25485603AC>A	uc002wux.1	-	5	703	c.629_629GT>T	c.(628-630)gtgfs	p.V210fs	NINL_uc010gdn.1_Frame_Shift_Del_p.V210fs|NINL_uc010gdo.1_Frame_Shift_Del_p.V50fs|NINL_uc010ztf.1_Frame_Shift_Del_p.V226fs	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	210	EF-hand 3.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	p.G209W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCTGCTGCCCACCCCCAGCTC	0.657													-	25485604	C	-	25485604	7	5	61	1	0	1	0	1	0	0	0	0	10420	507	18	0	3596	0	NINL	20	25485604	Frame_Shift_Del	DEL	C	TCGA-BR-8059-01A-11D-2340-08	28544	25485604	37539916	752	44538											
PLAGL2	5326	broad.mit.edu	37	chr20	30789952	30789952	+	Frame_Shift_Del	DEL	G	G	-													tgctttgcatcttgaatccaGggggggacgctggtgaaaaa							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr20:30789951_30789951AG>A	uc002wxn.2	-	1	248	c.31_31CT>T	c.(31-33)tggfs	p.W11fs		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	11						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCTTGAATCCAGGGGGGGACG	0.557													-	30789952	G	-	30789952	7	5	61	1	0	1	0	1	0	0	0	0	12020	987	35	0	1468	0	PLAGL2	20	30789952	Frame_Shift_Del	DEL	G	TCGA-BR-8059-01A-11D-2340-08	5304348	30789952	32235568	753	44539											
RBL1	5933	broad.mit.edu	37	chr20	35696449	35696449	+	Frame_Shift_Del	DEL	A	A	-													atggattttgaaatatatctAaaaaaattggctcatatttt							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr20:35696448_35696448TA>T	uc002xgi.3	-	2	511	c.432_432TA>A	c.(430-432)ttafs	p.L144fs	RBL1_uc002xgj.1_Frame_Shift_Del_p.L144fs|RBL1_uc010gfv.1_Non-coding_Transcript	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	144					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				GAAATATATCTAAAAAAATTG	0.333													-	35696449	A	-	35696449	7	5	61	1	0	1	0	1	0	0	0	0	13109	372	13	0	2864	0	RBL1	20	35696449	Frame_Shift_Del	DEL	A	TCGA-BR-8059-01A-11D-2340-08	4906497	35696449	27329071	754	44540											
FAM83D	81610	broad.mit.edu	37	chr20	37580587	37580587	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgctgccactcaaacagaGccaggagaggagatgccagg	14	11	1	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr20:37580587G>A	uc002xjg.2	+	4	1313	c.1272G>A	c.(1270-1272)GAG>GAA	p.E424E		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	hypothetical protein LOC81610	394					cell division|mitosis	cytoplasm|spindle pole				ovary(3)	3		Myeloproliferative disorder(115;0.00878)				CTCAAACAGAGCCAGGAGAGG	0.547													A	37580587	G	A	37580587	2	1	61	1	0	0	0	0	0	0	0	1	5636	962	34	2		2	FAM83D	20	37580587	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1884138	37580587	25444933	755	44541											
MYBL2	4605	broad.mit.edu	37	chr20	42343837	42343837	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatcaaagaagacaacagcTtgctcaaccagggcttcttg	9	10	3	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr20:42343837T>C	uc002xlb.1	+	13	2103	c.1888T>C	c.(1888-1890)TTG>CTG	p.L630L	MYBL2_uc010zwj.1_Silent_p.L606L	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	630						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGACAACAGCTTGCTCAACCA	0.562													C	42343837	T	C	42343837	2	2	61	1	0	0	0	0	0	0	0	1	10010	1606	56	3		3	MYBL2	20	42343837	Silent	SNP	T	TCGA-BR-8059-01A-11D-2340-08	4763250	42343837	20681683	756	44542											
RIMS4	140730	broad.mit.edu	37	chr20	43385563	43385563	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aggactttgccctggggactCtcaggaaacagcagcacctg	12	12	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr20:43385563C>G	uc002xms.2	-	5	567	c.567G>C	c.(565-567)GAG>GAC	p.E189D	RIMS4_uc010ggu.2_Missense_Mutation_p.E190D	NM_182970	NP_892015	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	189	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				ovary(4)|central_nervous_system(1)	5		Myeloproliferative disorder(115;0.0122)				CCTGGGGACTCTCAGGAAACA	0.557													G	43385563	C	G	43385563	3	3	61	1	0	0	0	0	1	0	0	0	13370	912	32	5	250	5	RIMS4	20	43385563	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1041726	43385563	19639957	757	44543											
MATN4	8785	broad.mit.edu	37	chr20	43932985	43932985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagggagcccacgtccgCgcgctgcacccccaccgcgt	13	20	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr20:43932985C>T	uc002xnn.2	-	3	713	c.526G>A	c.(526-528)GCG>ACG	p.A176T	MATN4_uc002xno.2_Missense_Mutation_p.A176T|MATN4_uc002xnp.2_Missense_Mutation_p.A176T|MATN4_uc010zwr.1_Missense_Mutation_p.A124T|MATN4_uc002xnr.1_Missense_Mutation_p.A176T|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	176	VWFA 1.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				CCCACGTCCGCGCGCTGCACC	0.687													T	43932985	C	T	43932985	3	4	61	1	0	0	0	0	1	0	0	0	9336	768	27	1	1251	1	MATN4	20	43932985	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	547422	43932985	19092535	758	44544											
PIGT	51604	broad.mit.edu	37	chr20	44047544	44047544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctcagggatcttctgcGcctctctcaacttcatcgac	6	16	6	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr20:44047544G>A	uc002xoh.1	+	3	491	c.418G>A	c.(418-420)GCC>ACC	p.A140T	PIGT_uc010ghb.1_Missense_Mutation_p.A130T|PIGT_uc010zwt.1_Intron|PIGT_uc010ghd.1_Silent_p.A80A|PIGT_uc010ghc.1_Intron|PIGT_uc010ghe.1_Intron|PIGT_uc010ghf.1_Silent_p.A126A|PIGT_uc002xoj.1_Missense_Mutation_p.A140T|PIGT_uc002xok.1_Missense_Mutation_p.A140T|PIGT_uc010zwu.1_5'UTR|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_5'UTR|PIGT_uc010zww.1_Intron|PIGT_uc010zwx.1_Silent_p.A8A|PIGT_uc010zwy.1_Intron|PIGT_uc010zwz.1_Intron|PIGT_uc010zxa.1_Intron|PIGT_uc002xol.1_5'UTR|PIGT_uc010zxb.1_5'Flank	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	140	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)				GATCTTCTGCGCCTCTCTCAA	0.527													A	44047544	G	A	44047544	3	1	61	1	0	0	0	0	1	0	0	0	11899	1087	38	1	428	1	PIGT	20	44047544	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	114559	44047544	18977976	759	44545											
ZSWIM1	90204	broad.mit.edu	37	chr20	44511929	44511929	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcccgagcttcactcacactGgctgctcaacgaccgcatct	8	17	4	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr20:44511929G>C	uc010ghi.2	+	2	811	c.698G>C	c.(697-699)TGG>TCG	p.W233S	ZSWIM1_uc010zxh.1_Missense_Mutation_p.W106S	NM_080603	NP_542170	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	233							zinc ion binding			skin(1)	1		Myeloproliferative disorder(115;0.028)				CACTCACACTGGCTGCTCAAC	0.587													C	44511929	G	C	44511929	3	2	61	1	0	0	0	0	1	0	0	0	18237	1357	47	5	700	5	ZSWIM1	20	44511929	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	464385	44511929	18513591	760	44546											
SULF2	55959	broad.mit.edu	37	chr20	46365657	46365657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgccctgctccatgatgcGccgggtcttgttcatcacct	9	17	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr20:46365657G>A	uc002xto.2	-	3	535	c.205C>T	c.(205-207)CGC>TGC	p.R69C	SULF2_uc002xtr.2_Missense_Mutation_p.R69C|SULF2_uc002xtq.2_Missense_Mutation_p.R69C|SULF2_uc010ghv.1_Missense_Mutation_p.R69C	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	69					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						TCCATGATGCGCCGGGTCTTG	0.637													A	46365657	G	A	46365657	3	1	61	1	0	0	0	0	1	0	0	0	15370	1087	38	1	2483	1	SULF2	20	46365657	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1853728	46365657	16659863	761	44547											
CASS4	57091	broad.mit.edu	37	chr20	55027385	55027385	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccataattcctcatggttcTccagacggacaacttcccca	6	15	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr20:55027385T>C	uc002xxp.2	+	6	1378	c.1153T>C	c.(1153-1155)TCC>CCC	p.S385P	CASS4_uc002xxq.3_Missense_Mutation_p.S385P|CASS4_uc002xxr.2_Missense_Mutation_p.S385P|CASS4_uc010zze.1_Missense_Mutation_p.S331P|CASS4_uc010gio.2_Intron	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	385	Ser-rich.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						CTCATGGTTCTCCAGACGGAC	0.532													C	55027385	T	C	55027385	3	2	61	1	0	0	0	0	1	0	0	0	2683	1551	54	3	1171	3	CASS4	20	55027385	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	8661728	55027385	7998135	762	44548											
TFAP2C	7022	broad.mit.edu	37	chr20	55211736	55211736	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcctagtaaaccagtggcAgaatatttaaccagacctca	6	10	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr20:55211736A>G	uc002xya.2	+	6	1236	c.993A>G	c.(991-993)GCA>GCG	p.A331A	TFAP2C_uc010zzi.1_Silent_p.A162A	NM_003222	NP_003213	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma	331	H-S-H (helix-span-helix), dimerization.				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Colorectal(105;0.229)			AACCAGTGGCAGAATATTTAA	0.433													G	55211736	A	G	55211736	2	3	61	1	0	0	0	0	0	0	0	1	15786	175	7	3		3	TFAP2C	20	55211736	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	184351	55211736	7813784	763	44549											
ZNF831	128611	broad.mit.edu	37	chr20	57766220	57766221	+	Frame_Shift_Ins	INS	-	-	C													ccgccagagcagggcctggcINScccccccactgtgttcctga							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr20:57766219_57766220G>GC	uc002yan.3	+	0	145_146	c.145_146G>GC	c.(145-147)gccfs	p.A49fs		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	49	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding	p.T52fs*47(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCAGGGCCTGGCCCCCCCCACT	0.728													C	57766221	-	C	57766220	7	5	61	1	0	1	1	0	0	0	0	0	18182	739	26	0	148	0	ZNF831	20	57766220	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	2554484	57766220	5259300	764	44550											
ZNF831	128611	broad.mit.edu	37	chr20	57766555	57766555	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcccagtgttctagagAagcacatccggtcccacacg	10	13	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr20:57766555A>C	uc002yan.2	+	1	481	c.481A>C	c.(481-483)AAG>CAG	p.K161Q		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	161	C2H2-type 1.					intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					TGTTCTAGAGAAGCACATCCG	0.637													C	57766555	A	C	57766555	3	2	61	1	0	0	0	0	1	0	0	0	18182	247	9	5	483	5	ZNF831	20	57766555	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	335	57766555	5258965	765	44551											
PRPF6	24148	broad.mit.edu	37	chr20	62657362	62657362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagaatgatgagtacgagcGggcccggaggctgctggcca	17	10	0	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr20:62657362G>A	uc002yho.2	+	15	2147	c.1979G>A	c.(1978-1980)CGG>CAG	p.R660Q	PRPF6_uc002yhp.2_Intron	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	660					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GAGTACGAGCGGGCCCGGAGG	0.662													A	62657362	G	A	62657362	3	1	61	1	0	0	0	0	1	0	0	0	12574	1116	39	1	2037	1	PRPF6	20	62657362	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	4890807	62657362	368158	766	44552											
SAMSN1	64092	broad.mit.edu	37	chr21	15870763	15870763	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtaggtgtacacacttacTttcttcttcaaggaagtttt	8	7	3	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr21:15870763T>G	uc002yju.1	-	7	1001	c.919A>C	c.(919-921)ATT>CTT	p.I307L	SAMSN1_uc010gky.1_Missense_Mutation_p.I139L|SAMSN1_uc002yjv.1_Missense_Mutation_p.I375L	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization	307					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			ovary(3)|pancreas(1)	4				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ACACACTTACTTTCTTCTTCA	0.333													G	15870763	T	G	15870763	3	3	61	1	0	0	0	0	1	0	0	0	13830	1623	56	5	210	5	SAMSN1	21	15870763	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08		15870763	32259132	767	44553											
TMPRSS15	5651	broad.mit.edu	37	chr21	19666644	19666644	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgacgagagatgcgccgCagagcagtcggccgccataa	14	12	0	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr21:19666644C>A	uc002ykw.2	-	21	2460	c.2429G>T	c.(2428-2430)TGC>TTC	p.C810F		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	810	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						AGATGCGCCGCAGAGCAGTCG	0.572													A	19666644	C	A	19666644	3	1	61	1	0	0	0	0	1	0	0	0	16243	710	25	5	650	5	TMPRSS15	21	19666644	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	3795881	19666644	28463251	768	44554											
RWDD2B	10069	broad.mit.edu	37	chr21	30380401	30380401	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgcaggaatgcagtcagatCtgtgttcagctgagtctgct	12	8	4	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr21:30380401C>A	uc002yms.2	-	4	493	c.406G>T	c.(406-408)GAT>TAT	p.D136Y	RWDD2B_uc002ymt.2_Missense_Mutation_p.D107Y|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_Missense_Mutation_p.D56Y	NM_016940	NP_058636	P57060	RWD2B_HUMAN	RWD domain containing 2B	136	RWD.										0						GCAGTCAGATCTGTGTTCAGC	0.393													A	30380401	C	A	30380401	3	1	61	1	0	0	0	0	1	0	0	0	13756	913	32	5	561	5	RWDD2B	21	30380401	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	10713757	30380401	17749494	769	44555											
KRTAP24-1	643803	broad.mit.edu	37	chr21	31654507	31654507	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatagcatttcagaggtctGctaccactgcacaaatacct	6	12	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr21:31654507G>A	uc002ynv.2	-	1	770	c.744C>T	c.(742-744)AGC>AGT	p.S248S		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	248	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].|6.					keratin filament	structural molecule activity				0						TCAGAGGTCTGCTACCACTGC	0.433													A	31654507	G	A	31654507	2	1	61	1	0	0	0	0	0	0	0	1	8542	1310	46	2		2	KRTAP24-1	21	31654507	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1274106	31654507	16475388	770	44556											
TIAM1	7074	broad.mit.edu	37	chr21	32492734	32492734	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaaagtcttcacgcctAacccaaatgacttcctcgct	8	14	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr21:32492734A>G	uc002yow.1	-	29	5200	c.4728T>C	c.(4726-4728)GTT>GTC	p.V1576V	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Silent_p.V1516V	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1576					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CTTCACGCCTAACCCAAATGA	0.557													G	32492734	A	G	32492734	2	3	61	1	0	0	0	0	0	0	0	1	15887	349	13	3		3	TIAM1	21	32492734	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	838227	32492734	15637161	771	44557											
DGCR2	9993	broad.mit.edu	37	chr22	19029346	19029346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaatcagggactcgatgCgctcccggcgccgctggcgc	13	17	1	0	rs142513620		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:19029346C>T	uc002zoq.1	-	8	1381	c.1133G>A	c.(1132-1134)CGC>CAC	p.R378H	DGCR2_uc002zor.1_Missense_Mutation_p.R154H|DGCR2_uc011agr.1_Missense_Mutation_p.R334H	NM_005137	NP_005128	P98153	IDD_HUMAN	integral membrane protein DGCR2 precursor	378	Cytoplasmic (Potential).				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			large_intestine(1)	1	Colorectal(54;0.0993)					GGACTCGATGCGCTCCCGGCG	0.647													T	19029346	C	T	19029346	3	4	61	1	0	0	0	0	1	0	0	0	4461	768	27	1	531	1	DGCR2	22	19029346	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08		19029346	32275220	772	44558											
HIRA	7290	broad.mit.edu	37	chr22	19363188	19363188	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggagtcatgctggtcagggCaggagcacctggtgtggctt	17	9	2	0	rs116694036	by1000genomes	TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:19363188C>A	uc002zpf.1	-	15	1961	c.1741G>T	c.(1741-1743)GCC>TCC	p.A581S	HIRA_uc011agx.1_Missense_Mutation_p.A447S|HIRA_uc010grn.1_Missense_Mutation_p.A581S|HIRA_uc010gro.1_Missense_Mutation_p.A537S|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	581	Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					CTGGTCAGGGCAGGAGCACCT	0.577													A	19363188	C	A	19363188	3	1	61	1	0	0	0	0	1	0	0	0	7120	710	25	5	1356	5	HIRA	22	19363188	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	333842	19363188	31941378	773	44559											
ZDHHC8	29801	broad.mit.edu	37	chr22	20130522	20130522	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcgctctgagggggggCcccccacgccccaccgtagc	13	20	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:20130522C>G	uc002zrq.2	+	10	1475	c.1369C>G	c.(1369-1371)CCC>GCC	p.P457A	ZDHHC8_uc002zrr.1_Missense_Mutation_p.P457A|ZDHHC8_uc010gsa.2_Missense_Mutation_p.P263A	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	457	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					TGAGGGGGGGCCCCCCACGCC	0.687													G	20130522	C	G	20130522	3	3	61	1	0	0	0	0	1	0	0	0	17618	739	26	5	1407	5	ZDHHC8	22	20130522	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	767334	20130522	31174044	774	44560											
RTN4R	65078	broad.mit.edu	37	chr22	20230373	20230373	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggcagccgcatcaattcGggccagcacattcgagtgca	12	12	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:20230373G>A	uc002zrv.2	-	2	484	c.283C>T	c.(283-285)CGA>TGA	p.R95*	RTN4R_uc002zru.2_5'UTR	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor precursor	95	LRR 2.				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity				0	Colorectal(54;0.0993)					GCATCAATTCGGGCCAGCACA	0.627													A	20230373	G	A	20230373	4	1	61	1	0	0	0	0	0	1	0	0	13730	1124	39	1	1142	1	RTN4R	22	20230373	Nonsense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	99851	20230373	31074193	775	44561											
P2RX6	9127	broad.mit.edu	37	chr22	21377428	21377428	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcccctgctggcccaggcCcagaacttcacactgttcat	9	16	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:21377428C>A	uc010gsu.1	+	6	579	c.579C>A	c.(577-579)GCC>GCA	p.A193A	P2RX6_uc002ztz.2_Silent_p.A167A|P2RX6_uc002zua.2_RNA|P2RX6_uc002zuc.1_RNA	NM_005446	NP_005437	O15547	P2RX6_HUMAN	purinergic receptor P2X6 isoform 1	193	Extracellular (Potential).				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0						TGGCCCAGGCCCAGAACTTCA	0.582													A	21377428	C	A	21377428	2	1	61	1	0	0	0	0	0	0	0	1	11344	610	22	5		5	P2RX6	22	21377428	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1147055	21377428	29927138	776	44562											
CCDC116	164592	broad.mit.edu	37	chr22	21988490	21988490	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgagagccaggtcctggaCagcctggagacagtggtgga	16	9	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:21988490C>A	uc002zve.2	+	3	345	c.252C>A	c.(250-252)GAC>GAA	p.D84E	CCDC116_uc011aih.1_Missense_Mutation_p.D84E	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	84	Potential.									ovary(1)|skin(1)	2	Colorectal(54;0.105)					AGGTCCTGGACAGCCTGGAGA	0.617													A	21988490	C	A	21988490	3	1	61	1	0	0	0	0	1	0	0	0	2753	477	17	5	258	5	CCDC116	22	21988490	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	611062	21988490	29316076	777	44563											
ZNF280B	140883	broad.mit.edu	37	chr22	22843016	22843016	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcctttggaaaagctgcTggaaaaggtgctccattctg	11	8	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:22843016T>C	uc002zwc.1	-	4	1484	c.708A>G	c.(706-708)CCA>CCG	p.P236P	LOC96610_uc011aim.1_Intron	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GAAAAGCTGCTGGAAAAGGTG	0.363													C	22843016	T	C	22843016	2	2	61	1	0	0	0	0	0	0	0	1	17812	1567	55	3		3	ZNF280B	22	22843016	Silent	SNP	T	TCGA-BR-8059-01A-11D-2340-08	854526	22843016	28461550	778	44564											
GNAZ	2781	broad.mit.edu	37	chr22	23465440	23465440	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtacaagggccagaacacgtAcgaggaggccgctgtctaca	13	11	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:23465440A>T	uc002zwu.1	+	3	1427	c.890A>T	c.(889-891)TAC>TTC	p.Y297F	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	297						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CAGAACACGTACGAGGAGGCC	0.572													T	23465440	A	T	23465440	3	4	61	1	0	0	0	0	1	0	0	0	6514	391	14	5	896	5	GNAZ	22	23465440	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	622424	23465440	27839126	779	44565											
GGT1	2678	broad.mit.edu	37	chr22	25024357	25024357	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagagaaacattgaccaggTgggccgggggttggagaaac	18	6	0	3			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:25024357T>C	uc003aan.1	+	15	2050	c.1563_splice	c.e15+2	p.Q521_splice	GGT1_uc003aat.1_Splice_Site_p.Q521_splice|GGT1_uc003aau.1_Splice_Site_p.Q521_splice|GGT1_uc003aav.1_Splice_Site_p.Q521_splice|GGT1_uc003aaw.1_Splice_Site_p.Q521_splice|GGT1_uc003aax.1_Splice_Site_p.Q521_splice|GGT1_uc003aay.1_Splice_Site_p.Q177_splice	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor						glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)	ATTGACCAGGTGGGCCGGGGG	0.612													C	25024357	T	C	25024357	5	2	61	1	0	0	0	0	0	0	1	0	6361	1710	59	3	1607	3	GGT1	22	25024357	Splice_Site	SNP	T	TCGA-BR-8059-01A-11D-2340-08	1558917	25024357	26280209	780	44566											
CRYBB3	1417	broad.mit.edu	37	chr22	25603126	25603126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgcagctgcagtctgtgCgccgcatccgtgaccagaag	13	14	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:25603126C>T	uc003abo.1	+	6	655	c.583C>T	c.(583-585)CGC>TGC	p.R195C		NM_004076	NP_004067	P26998	CRBB3_HUMAN	crystallin, beta B3	195	Beta/gamma crystallin 'Greek key' 4.				visual perception		protein binding|structural constituent of eye lens				0						GCAGTCTGTGCGCCGCATCCG	0.662													T	25603126	C	T	25603126	3	4	61	1	0	0	0	0	1	0	0	0	3912	768	27	1	601	1	CRYBB3	22	25603126	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	578769	25603126	25701440	781	44567											
MN1	4330	broad.mit.edu	37	chr22	28193409	28193409	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtccgaggcgaactcaccCacgtttggcgaactactgtc	10	14	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:28193409C>T	uc003adj.2	-	1	4078	c.3123G>A	c.(3121-3123)GTG>GTA	p.V1041V		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	1041							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						CGAACTCACCCACGTTTGGCG	0.627			T	ETV6	AML|meningioma								T	28193409	C	T	28193409	2	4	61	1	0	0	0	0	0	0	0	1	9673	581	21	4		4	MN1	22	28193409	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2590283	28193409	23111157	782	44568											
HMGXB4	10042	broad.mit.edu	37	chr22	35661038	35661039	+	Frame_Shift_Del	DEL	TG	TG	-													tatccctcccaacaagcgacTgtgaaaaaatcctcaaagaa							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:35661037_35661038CTG>C	uc003anl.3	+	4	830_831	c.656_657CTG>C	c.(655-657)actfs	p.T219fs	HMGXB4_uc011amh.1_Frame_Shift_Del_p.T110fs|HMGXB4_uc003ank.3_Frame_Shift_Del_p.T110fs	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	Homo sapiens HMG box domain containing 4 (HMGXB4), transcript variant 1, mRNA.	219					Wnt receptor signaling pathway|endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway	NURF complex	DNA binding	p.A218A(1)		breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAACAAGCGACTGTGAAAAAAT	0.441													-	35661039	TG	-	35661038	7	5	61	1	0	1	0	1	0	0	0	0	7239	1567	55	0	671	0	HMGXB4	22	35661038	Frame_Shift_Del	DEL	TG	TCGA-BR-8059-01A-11D-2340-08	7467629	35661038	15643528	783	44569											
HMOX1	3162	broad.mit.edu	37	chr22	35782986	35782986	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggtgctcaaaaagattgcCcagaaagccctggacctgcc	10	13	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:35782986C>A	uc003ant.1	+	3	533	c.453C>A	c.(451-453)GCC>GCA	p.A151A		NM_002133	NP_002124	P09601	HMOX1_HUMAN	heme oxygenase (decyclizing) 1	151					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			ovary(1)	1					NADH(DB00157)	AAAAGATTGCCCAGAAAGCCC	0.642													A	35782986	C	A	35782986	2	1	61	1	0	0	0	0	0	0	0	1	7243	610	22	5		5	HMOX1	22	35782986	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	121948	35782986	15521580	784	44570											
C1QTNF6	114904	broad.mit.edu	37	chr22	37578760	37578760	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctggcaggcccattgggcctGggtcccctttgtcacctgtg	13	14	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:37578760G>C	uc003aqw.1	-	2	753	c.248C>G	c.(247-249)CCA>CGA	p.P83R	C1QTNF6_uc003aqx.1_Missense_Mutation_p.P102R|C1QTNF6_uc003aqy.1_Missense_Mutation_p.P102R|C1QTNF6_uc003aqz.1_Intron	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	83	Collagen-like.					collagen					0						CATTGGGCCTGGGTCCCCTTT	0.642													C	37578760	G	C	37578760	3	2	61	1	0	0	0	0	1	0	0	0	1967	1348	47	5	535	5	C1QTNF6	22	37578760	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	1795774	37578760	13725806	785	44571											
H1F0	3005	broad.mit.edu	37	chr22	38202023	38202023	+	Frame_Shift_Del	DEL	A	A	-													ctgccacgcccaagaaagccAaaaaacccaagactgtcaaa							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:38202022_38202022CA>C	uc003aty.3	+	0	909	c.471_471CA>C	c.(469-471)gccfs	p.A157fs	GCAT_uc003atz.3_5'Flank|GCAT_uc003aua.2_5'Flank	NM_005318	NP_005309	P07305	H10_HUMAN	Homo sapiens H1 histone family, member 0 (H1F0), mRNA.	157					DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	Golgi apparatus|actin cytoskeleton|nucleoplasm|nucleosome	DNA binding			cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					CCAAGAAAGCCAAAAAACCCA	0.557													-	38202023	A	-	38202023	7	5	61	1	0	1	0	1	0	0	0	0	6920	131	5	0	474	0	H1F0	22	38202023	Frame_Shift_Del	DEL	A	TCGA-BR-8059-01A-11D-2340-08	623263	38202023	13102543	786	44572											
SOX10	6663	broad.mit.edu	37	chr22	38370125	38370125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcccccatggagcgccCgtcccgcttcgggtctgcct	11	20	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:38370125C>T	uc003aun.1	-	4	1056	c.778G>A	c.(778-780)GGG>AGG	p.G260R	POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Missense_Mutation_p.G260R	NM_006941	NP_008872	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	260						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity				0	Melanoma(58;0.045)					ATGGAGCGCCCGTCCCGCTTC	0.622													T	38370125	C	T	38370125	3	4	61	1	0	0	0	0	1	0	0	0	14941	652	23	1	626	1	SOX10	22	38370125	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	168102	38370125	12934441	787	44573											
SOX10	6663	broad.mit.edu	37	chr22	38373944	38373944	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccggtggtccaagtgggcGctcttgtagtgggcctggat	17	9	1	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:38373944G>A	uc003aun.1	-	3	905	c.627C>T	c.(625-627)AGC>AGT	p.S209S	POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Silent_p.S209S	NM_006941	NP_008872	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	209						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity				0	Melanoma(58;0.045)					CCAAGTGGGCGCTCTTGTAGT	0.701													A	38373944	G	A	38373944	2	1	61	1	0	0	0	0	0	0	0	1	14941	1078	38	1		1	SOX10	22	38373944	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	3819	38373944	12930622	788	44574											
FAM83F	113828	broad.mit.edu	37	chr22	40417839	40417839	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caggcgcttcagcagcaggcTcttcagtcgccgagccaaga	12	14	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:40417839T>A	uc003ayk.1	+	4	1419	c.1325T>A	c.(1324-1326)CTC>CAC	p.L442H		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	442										breast(1)	1						AGCAGCAGGCTCTTCAGTCGC	0.672													A	40417839	T	A	40417839	3	1	61	1	0	0	0	0	1	0	0	0	5638	1551	54	5	1339	5	FAM83F	22	40417839	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	2043895	40417839	10886727	789	44575											
WBP2NL	164684	broad.mit.edu	37	chr22	42423016	42423016	+	Frame_Shift_Del	DEL	C	C	-													cccacctctcggatatggagCcccacctctcggatatggag					rs140763493	byFrequency	TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:42423015_42423015GC>G	uc003bbt.3	+	5	854	c.760_760GC>G	c.(760-762)gccfs	p.A254fs	WBP2NL_uc011apk.2_Frame_Shift_Del_p.A126fs|WBP2NL_uc003bbu.2_Non-coding_Transcript|WBP2NL_uc003bbv.1_Non-coding_Transcript	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN	Homo sapiens WBP2 N-terminal like (WBP2NL), mRNA.	254	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	p.A254T(2)		breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CGGATATGGAGCCCCACCTCT	0.602													-	42423016	C	-	42423016	7	5	61	1	0	1	0	1	0	0	0	0	17257	739	26	0	783	0	WBP2NL	22	42423016	Frame_Shift_Del	DEL	C	TCGA-BR-8059-01A-11D-2340-08	2005177	42423016	8881550	790	44576											
PACSIN2	11252	broad.mit.edu	37	chr22	43280459	43280459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccggaagaagcgaaggcGtttctcctcgaactgctggc	12	13	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:43280459G>A	uc010gzg.2	-	6	940	c.718C>T	c.(718-720)CGC>TGC	p.R240C	PACSIN2_uc003bdg.3_Missense_Mutation_p.R240C|PACSIN2_uc003bde.3_Missense_Mutation_p.R240C|PACSIN2_uc003bdf.3_Missense_Mutation_p.R240C	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in	240					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity				0		Glioma(61;0.222)				AAGCGAAGGCGTTTCTCCTCG	0.527													A	43280459	G	A	43280459	3	1	61	1	0	0	0	0	1	0	0	0	11375	1145	40	1	766	1	PACSIN2	22	43280459	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	857443	43280459	8024107	791	44577											
SMC1B	27127	broad.mit.edu	37	chr22	45755702	45755702	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tacctccacttcaatgatgtCatccagtgaccccgacaaaa	5	14	2	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:45755702C>A	uc003bgc.2	-	18	2897	c.2845G>T	c.(2845-2847)GAC>TAC	p.D949Y	SMC1B_uc003bgd.2_Missense_Mutation_p.D949Y	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	949					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCAATGATGTCATCCAGTGAC	0.398													A	45755702	C	A	45755702	3	1	61	1	0	0	0	0	1	0	0	0	14782	826	29	5	894	5	SMC1B	22	45755702	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2475243	45755702	5548864	792	44578											
GTSE1	51512	broad.mit.edu	37	chr22	46704360	46704360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcctggagccctctggcCggggagaagttcgtggaggt	17	9	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:46704360C>T	uc011aqy.1	+	4	494	c.282C>T	c.(280-282)GCC>GCT	p.A94A	GTSE1_uc011aqz.1_5'UTR	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	75					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GCCCTCTGGCCGGGGAGAAGT	0.537													T	46704360	C	T	46704360	2	4	61	1	0	0	0	0	0	0	0	1	6885	639	23	1		1	GTSE1	22	46704360	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	948658	46704360	4600206	793	44579											
CELSR1	9620	broad.mit.edu	37	chr22	46931942	46931942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagtcgcggtcgctggcgcGgatggtcagcacctcgtagc	16	13	1	0	rs148833987		TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:46931942G>A	uc003bhw.1	-	1	1126	c.1126C>T	c.(1126-1128)CGC>TGC	p.R376C		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	376	Extracellular (Potential).|Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCGCTGGCGCGGATGGTCAGC	0.657													A	46931942	G	A	46931942	3	1	61	1	0	0	0	0	1	0	0	0	3221	1116	39	1	8058	1	CELSR1	22	46931942	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	227582	46931942	4372624	794	44580											
MOV10L1	54456	broad.mit.edu	37	chr22	50530569	50530569	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttggacaggaagtgattgcAgttgtggaagaaaataaagt	14	2	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:50530569A>G	uc003bjj.2	+	2	320	c.237A>G	c.(235-237)GCA>GCG	p.A79A	MOV10L1_uc003bjk.3_Silent_p.A79A|MOV10L1_uc011arp.1_Silent_p.A59A|MOV10L1_uc010han.2_Silent_p.A59A	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	79					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AAGTGATTGCAGTTGTGGAAG	0.433													G	50530569	A	G	50530569	2	3	61	1	0	0	0	0	0	0	0	1	9719	175	7	3		3	MOV10L1	22	50530569	Silent	SNP	A	TCGA-BR-8059-01A-11D-2340-08	3598627	50530569	773997	795	44581											
TYMP	1890	broad.mit.edu	37	chr22	50967983	50967983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacgaagcccctgatgtcCgcttcgctcaggcggcctcc	11	18	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chr22:50967983C>T	uc003bmb.3	-	1	276	c.156G>A	c.(154-156)GCG>GCA	p.A52A	TYMP_uc003bmc.3_Silent_p.A52A|TYMP_uc003bmd.3_Silent_p.A52A|TYMP_uc010hbd.2_Silent_p.A52A|TYMP_uc003bme.3_Silent_p.A52A|TYMP_uc003bmf.3_Silent_p.A52A|TYMP_uc011arz.1_Silent_p.A52A	NM_001113756	NP_001107228	P19971	TYPH_HUMAN	endothelial cell growth factor 1	52					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			ovary(1)	1		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	CCCTGATGTCCGCTTCGCTCA	0.692													T	50967983	C	T	50967983	2	4	61	1	0	0	0	0	0	0	0	1	16808	639	23	1		1	TYMP	22	50967983	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	437414	50967983	336583	796	44582											
GPM6B	2824	broad.mit.edu	37	chrX	13795513	13795513	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagggcagagccacatatTtttccggggaaagcattcca	10	11	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chrX:13795513T>G	uc004cvz.2	-	5	900	c.609A>C	c.(607-609)AAA>AAC	p.K203N	GPM6B_uc004cvx.2_Missense_Mutation_p.K184N|GPM6B_uc011min.1_Missense_Mutation_p.K117N|GPM6B_uc004cwa.2_Missense_Mutation_p.K184N|GPM6B_uc004cvw.2_Missense_Mutation_p.K243N|GPM6B_uc011mim.1_Missense_Mutation_p.K217N|GPM6B_uc004cvy.2_Missense_Mutation_p.K243N	NM_005278	NP_005269	Q13491	GPM6B_HUMAN	glycoprotein M6B isoform 3	203					cell differentiation|nervous system development	integral to membrane					0						AGCCACATATTTTTCCGGGGA	0.428													G	13795513	T	G	13795513	3	3	61	1	0	0	0	0	1	0	0	0	6616	1838	64	5	354	5	GPM6B	23	13795513	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08		13795513	141475047	797	44583											
CDKL5	6792	broad.mit.edu	37	chrX	18598025	18598025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccacctgagaaagtaaaaAgctacatctatcagctaatc	5	10	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chrX:18598025A>G	uc004cym.2	+	6	593	c.340A>G	c.(340-342)AGC>GGC	p.S114G	CDKL5_uc004cyn.2_Missense_Mutation_p.S114G	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	114	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					GAAAGTAAAAAGCTACATCTA	0.343													G	18598025	A	G	18598025	3	3	61	1	0	0	0	0	1	0	0	0	3157	72	3	3	358	3	CDKL5	23	18598025	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	4802512	18598025	136672535	798	44584											
CASK	8573	broad.mit.edu	37	chrX	41394006	41394007	+	Frame_Shift_Ins	INS	-	-	T													gtgctttgtgatgagagtgtINStttttatgtgtcttctccca							TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chrX:41394005_41394006G>GT	uc004dfk.4	-	18	1841_1842	c.1715_1716C>AC	c.(1714-1716)aacfs	p.N572fs	CASK_uc004dfj.4_Frame_Shift_Ins_p.N297fs|CASK_uc004dfl.4_Frame_Shift_Ins_p.N752fs|CASK_uc004dfm.4_Frame_Shift_Ins_p.N729fs|CASK_uc004dfn.4_Frame_Shift_Ins_p.N728fs	NM_003688	NP_003679	O14936	CSKP_HUMAN	Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA.	757					cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						TGATGAGAGTGTTTTTTATGTG	0.347													T	41394007	-	T	41394006	7	5	61	1	0	1	1	0	0	0	0	0	2665	1725	60	0	526	0	CASK	23	41394006	Frame_Shift_Ins	INS	-	TCGA-BR-8059-01A-11D-2340-08	22795981	41394006	113876554	799	44585											
SHROOM4	57477	broad.mit.edu	37	chrX	50378091	50378091	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacttggtcatgcccactgaGgcaacagaacctattagggt	10	11	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chrX:50378091G>T	uc004dpe.2	-	4	1008	c.982C>A	c.(982-984)CTC>ATC	p.L328I	SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.L212I	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	328					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					TGCCCACTGAGGCAACAGAAC	0.552													T	50378091	G	T	50378091	3	4	61	1	0	0	0	0	1	0	0	0	14296	1000	35	5	3523	5	SHROOM4	23	50378091	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	8984085	50378091	104892469	800	44586											
GSPT2	23708	broad.mit.edu	37	chrX	51487718	51487718	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggacagacaagagaacaTgcgatgttggcaaaaacggc	14	7	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chrX:51487718T>C	uc004dpl.2	+	1	1222	c.996T>C	c.(994-996)CAT>CAC	p.H332H		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	peptide chain release factor 3	332					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)	1	Ovarian(276;0.236)					CAAGAGAACATGCGATGTTGG	0.418													C	51487718	T	C	51487718	2	2	61	1	0	0	0	0	0	0	0	1	6827	1461	51	3		3	GSPT2	23	51487718	Silent	SNP	T	TCGA-BR-8059-01A-11D-2340-08	1109627	51487718	103782842	801	44587											
TSPYL2	64061	broad.mit.edu	37	chrX	53113997	53113997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtacttccagactaacCcctacttcacaaacatggtg	6	13	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chrX:53113997C>T	uc004drw.2	+	3	1078	c.946C>T	c.(946-948)CCC>TCC	p.P316S	TSPYL2_uc004drv.2_Missense_Mutation_p.P360S|TSPYL2_uc004drx.1_5'UTR	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	316					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding				0						CCAGACTAACCCCTACTTCAC	0.522													T	53113997	C	T	53113997	3	4	61	1	0	0	0	0	1	0	0	0	16657	623	22	4	956	4	TSPYL2	23	53113997	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	1626279	53113997	102156563	802	44588											
MAGEE2	139599	broad.mit.edu	37	chrX	75004886	75004886	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attctggcttaccagagacaTggttccaggagacaggagcg	13	9	1	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chrX:75004886T>C	uc004ecj.1	-	1	186	c.1A>G	c.(1-3)ATG>GTG	p.M1V		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	1										ovary(1)|skin(1)	2						ACCAGAGACATGGTTCCAGGA	0.582													C	75004886	T	C	75004886	3	2	61	1	0	0	0	0	1	0	0	0	9186	1464	51	3	1574	3	MAGEE2	23	75004886	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	21890889	75004886	80265674	803	44589											
MAP7D3	79649	broad.mit.edu	37	chrX	135313820	135313820	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccatgctctccttgggtgaCcctttcacactctccttggg	8	15	3	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chrX:135313820C>A	uc004ezt.2	-	8	1387	c.1296G>T	c.(1294-1296)GGG>GGT	p.G432G	MAP7D3_uc004ezs.2_Silent_p.G396G|MAP7D3_uc011mwc.1_Silent_p.G414G|MAP7D3_uc010nsa.1_Silent_p.G390G	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	432						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CCTTGGGTGACCCTTTCACAC	0.587													A	135313820	C	A	135313820	2	1	61	1	0	0	0	0	0	0	0	1	9269	494	18	5		5	MAP7D3	23	135313820	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	60308934	135313820	19956740	804	44590											
MAGEC1	9947	broad.mit.edu	37	chrX	140994648	140994648	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcctgtgagctcctcctcCtcctcctccactttattgag	5	16	0	2			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chrX:140994648C>A	uc004fbt.2	+	4	1744	c.1458C>A	c.(1456-1458)TCC>TCA	p.S486S	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	486							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCTCCTCCTCCTCCTCCA	0.478										HNSCC(15;0.026)			A	140994648	C	A	140994648	2	1	61	1	0	0	0	0	0	0	0	1	9180	668	24	5		5	MAGEC1	23	140994648	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08	5680828	140994648	14275912	805	44591											
IDS	3423	broad.mit.edu	37	chrX	148577905	148577905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaggaattggaccatacGgcacactgatgtttaaggct	10	10	0	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chrX:148577905G>A	uc011mxe.1	-	6	1049	c.851C>T	c.(850-852)CCG>CTG	p.P284L	IDS_uc011mxf.1_Missense_Mutation_p.P194L|IDS_uc011mxg.1_Missense_Mutation_p.P73L|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Missense_Mutation_p.P73L|IDS_uc011mxh.1_Missense_Mutation_p.P284L|IDS_uc011mxi.1_RNA	NM_000202	NP_000193	P22304	IDS_HUMAN	iduronate-2-sulfatase isoform a precursor	284						lysosome	iduronate-2-sulfatase activity|metal ion binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGGACCATACGGCACACTGAT	0.522													A	148577905	G	A	148577905	3	1	61	1	0	0	0	0	1	0	0	0	7503	1116	39	1	847	1	IDS	23	148577905	Missense_Mutation	SNP	G	TCGA-BR-8059-01A-11D-2340-08	7583257	148577905	6692655	806	44592											
CD99L2	83692	broad.mit.edu	37	chrX	149938842	149938842	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtagtctgcgttgagacccTctgcaaagggaaaagggcag	14	9	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chrX:149938842T>A	uc004fel.2	-	10	774	c.656A>T	c.(655-657)CAG>CTG	p.Q219L	CD99L2_uc004fek.2_RNA|CD99L2_uc004fem.2_Missense_Mutation_p.Q170L|CD99L2_uc004fen.2_Missense_Mutation_p.Q147L|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_Missense_Mutation_p.Q146L	NM_031462	NP_113650	Q8TCZ2	C99L2_HUMAN	CD99 antigen-like 2 isoform E3'-E4'-E3-E4	219	Cytoplasmic (Potential).				cell adhesion	cell junction|integral to membrane				large_intestine(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GTTGAGACCCTCTGCAAAGGG	0.532													A	149938842	T	A	149938842	3	1	61	1	0	0	0	0	1	0	0	0	3051	1565	54	5	140	5	CD99L2	23	149938842	Missense_Mutation	SNP	T	TCGA-BR-8059-01A-11D-2340-08	1360937	149938842	5331718	807	44593											
PASD1	139135	broad.mit.edu	37	chrX	150817162	150817162	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgctgctgctgctgcTgctatctcagacgtatgtac	11	12	1	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chrX:150817162T>A	uc004fev.3	+	9	1037	c.705T>A	c.(703-705)GCT>GCA	p.A235A		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	235	Poly-Ala.					nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ctgctgctgctgctATCTCAG	0.343													A	150817162	T	A	150817162	2	1	61	1	0	0	0	0	0	0	0	1	11471	1567	55	5		5	PASD1	23	150817162	Silent	SNP	T	TCGA-BR-8059-01A-11D-2340-08	878320	150817162	4453398	808	44594											
CNGA2	1260	broad.mit.edu	37	chrX	150912810	150912810	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccaacatggaaaccttgtAcactcgctttggccgcctgc	9	14	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chrX:150912810A>G	uc004fey.1	+	7	2059	c.1835A>G	c.(1834-1836)TAC>TGC	p.Y612C		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	612	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GAAACCTTGTACACTCGCTTT	0.547													G	150912810	A	G	150912810	3	3	61	1	0	0	0	0	1	0	0	0	3597	391	14	3	1857	3	CNGA2	23	150912810	Missense_Mutation	SNP	A	TCGA-BR-8059-01A-11D-2340-08	95648	150912810	4357750	809	44595											
HCFC1	3054	broad.mit.edu	37	chrX	153228859	153228859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccagagcctggccgtaattCcaggatatataagtcattca	8	10	2	1			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chrX:153228859C>T	uc004fjp.2	-	4	1057	c.529G>A	c.(529-531)GAA>AAA	p.E177K		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	177	Kelch 3.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCGTAATTCCAGGATATAT	0.547													T	153228859	C	T	153228859	3	4	61	1	0	0	0	0	1	0	0	0	6991	864	30	4	5670	4	HCFC1	23	153228859	Missense_Mutation	SNP	C	TCGA-BR-8059-01A-11D-2340-08	2316049	153228859	2041701	810	44596											
FLNA	2316	broad.mit.edu	37	chrX	153588107	153588107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagcacgcaccctcctcGtaaggcgtgtactccacttt	7	18	0	0			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chrX:153588107G>A	uc004fkk.2	-	23	4221	c.3972C>T	c.(3970-3972)TAC>TAT	p.Y1324Y	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.Y1324Y	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1324	Filamin 11.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCCTCCTCGTAAGGCGTGT	0.662													A	153588107	G	A	153588107	2	1	61	1	0	0	0	0	0	0	0	1	5933	1140	40	1		1	FLNA	23	153588107	Silent	SNP	G	TCGA-BR-8059-01A-11D-2340-08	359248	153588107	1682453	811	44597											
USP9Y	8287	broad.mit.edu	37	chrY	14848463	14848463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctgaggaggaagaatggCtgacagctgagcgaatggca	15	7	0	4			TCGA-BR-8059-01A-11D-2340-08	TCGA-BR-8059-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157892e9-83f4-44a9-9ad0-4d309678f251	ffe6b1c1-61fa-4e09-9e32-2784a0b4719e	g.chrY:14848463C>T	uc004fst.1	+	10	2089	c.1144C>T	c.(1144-1146)CTG>TTG	p.L382L	USP9Y_uc010nwu.1_RNA	NM_004654	NP_004645	O00507	USP9Y_HUMAN	ubiquitin specific protease 9, Y-linked	382					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						GGAAGAATGGCTGACAGCTGA	0.328													T	14848463	C	T	14848463	2	4	61	1	0	0	0	0	0	0	0	1	17088	796	28	2		2	USP9Y	24	14848463	Silent	SNP	C	TCGA-BR-8059-01A-11D-2340-08		14848463	44525103	812	44598											
S100PBP	64766	broad.mit.edu	37	chr1	33318765	33318765	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccttcggacctcaccacGcggtgagtgggtgattagaa	12	11	1	3			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr1:33318765G>A	uc001bvz.2	+	6	1387	c.1110G>A	c.(1108-1110)ACG>ACA	p.T370T	S100PBP_uc001bwc.2_Silent_p.T370T|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	370						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ACCTCACCACGCGGTGAGTGG	0.348													A	33318765	G	A	33318765	2	1	62	1	0	0	0	0	0	0	0	1	13791	1074	38	1		1	S100PBP	1	33318765	Silent	SNP	G	TCGA-BR-8077-01A-11D-2340-08		33318765	215931856	1	44599											
MACF1	23499	broad.mit.edu	37	chr1	39776014	39776014	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtcgtgactctgtgctgtTctcagtggctgatcgcttgc	12	10	2	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr1:39776014T>G	uc010ois.1	+	26	3234	c.3029T>G	c.(3028-3030)TTC>TGC	p.F1010C	MACF1_uc001cda.1_Missense_Mutation_p.F918C|MACF1_uc001cdc.1_Missense_Mutation_p.F97C|MACF1_uc009vvq.1_Missense_Mutation_p.F67C|MACF1_uc001cdb.1_Missense_Mutation_p.F97C	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1010					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTGTGCTGTTCTCAGTGGCT	0.527													G	39776014	T	G	39776014	3	3	62	1	0	0	0	0	1	0	0	0	9144	1783	62	5	3123	5	MACF1	1	39776014	Missense_Mutation	SNP	T	TCGA-BR-8077-01A-11D-2340-08	6457249	39776014	209474607	2	44600											
GTF2B	2959	broad.mit.edu	37	chr1	89329732	89329732	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agaatctccaactcgagatgGatcttttgttgctttgtcat	8	8	3	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr1:89329732G>C	uc001dmo.3	-	3	309	c.190C>G	c.(190-192)CCA>GCA	p.P64A	GTF2B_uc009wcw.1_Intron	NM_001514	NP_001505	Q00403	TF2B_HUMAN	general transcription factor IIB	64					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		ACTCGAGATGGATCTTTTGTT	0.398													C	89329732	G	C	89329732	3	2	62	1	0	0	0	0	1	0	0	0	6855	1174	41	5	780	5	GTF2B	1	89329732	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08	49553718	89329732	159920889	3	44601											
POGZ	23126	broad.mit.edu	37	chr1	151413529	151413529	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagcatgggcagcgatgggcActggagccgagactggctgc	17	10	0	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr1:151413529A>T	uc001eyd.1	-	3	464	c.158T>A	c.(157-159)GTG>GAG	p.V53E	POGZ_uc001eye.1_Intron|POGZ_uc010pdb.1_Missense_Mutation_p.V53E|POGZ_uc001eyf.1_Intron|POGZ_uc010pdc.1_Intron|POGZ_uc009wmv.1_Missense_Mutation_p.V53E|POGZ_uc010pdd.1_Intron|POGZ_uc001eyg.1_Missense_Mutation_p.V53E	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	53					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGCGATGGGCACTGGAGCCGA	0.547													T	151413529	A	T	151413529	3	4	62	1	0	0	0	0	1	0	0	0	12186	159	6	5	4156	5	POGZ	1	151413529	Missense_Mutation	SNP	A	TCGA-BR-8077-01A-11D-2340-08	62083797	151413529	97837092	4	44602											
S100A7L2	645922	broad.mit.edu	37	chr1	153410796	153410796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgactttctcacctagagGgatattcatctttgctttca	6	10	4	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr1:153410796G>A	uc010pdx.1	-	2	121	c.43C>T	c.(43-45)CCT>TCT	p.P15S		NM_001045479	NP_001038944			S100 calcium binding protein A7-like 2											ovary(1)	1	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCACCTAGAGGGATATTCATC	0.398													A	153410796	G	A	153410796	3	1	62	1	0	0	0	0	1	0	0	0	13785	1232	43	4	303	4	S100A7L2	1	153410796	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08	1997267	153410796	95839825	5	44603											
BCAN	63827	broad.mit.edu	37	chr1	156616753	156616756	+	Frame_Shift_Del	DEL	GGGC	GGGC	-													aagtggactttcctgtcccgGggccgggaggcagaggtgct							TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr1:156616752_156616755GGGGC>G	uc001fpp.3	+	2	587_590	c.251_254GGGGC>G	c.(250-255)cggggcfs	p.R84fs	BCAN_uc001fpo.3_Frame_Shift_Del_p.R84fs	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	84	Ig-like V-type.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCCTGTCCCGGGGCCGGGAGGCA	0.716													-	156616756	GGGC	-	156616753	7	5	62	1	0	1	0	1	0	0	0	0	1345	1219	43	0	258	0	BCAN	1	156616753	Frame_Shift_Del	DEL	GGGC	TCGA-BR-8077-01A-11D-2340-08	3205957	156616753	92633868	6	44604											
APOA2	336	broad.mit.edu	37	chr1	161192255	161192255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaagaagttaaccagttcCgttccagccttcttgatcag	7	12	3	2	rs138452270		TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr1:161192255C>T	uc001fzc.1	-	4	301	c.243G>A	c.(241-243)ACG>ACA	p.T81T	APOA2_uc001fzb.1_RNA	NM_001643	NP_001634	P02652	APOA2_HUMAN	apolipoprotein A-II preproprotein	81					cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling	chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity			skin(1)	1	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TAACCAGTTCCGTTCCAGCCT	0.498													T	161192255	C	T	161192255	2	4	62	1	0	0	0	0	0	0	0	1	782	639	23	1		1	APOA2	1	161192255	Silent	SNP	C	TCGA-BR-8077-01A-11D-2340-08	4575502	161192255	88058366	7	44605											
ATP1B1	481	broad.mit.edu	37	chr1	169099314	169099314	+	RNA	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acccaaatgtccttcccgttCagtgcactggcaaggtaaag	9	12	1	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr1:169099314C>A	uc001gfs.1	+	5		c.759C>A						P05026	AT1B1_HUMAN	Synthetic construct DNA, clone: pF1KB8186, Homo sapiens ATP1B1 gene for ATPase, Na+/K+ transporting, beta 1 polypeptide, without stop codon, in Flexi system.						ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	all_hematologic(923;0.208)					CCTTCCCGTTCAGTGCACTGG	0.443													A	169099314	C	A	169099314	1	1	62	0	1	0	0	0	0	0	0	0	1132	827	29	5		5	ATP1B1	1	169099314	RNA	SNP	C	TCGA-BR-8077-01A-11D-2340-08	7907059	169099314	80151307	8	44606											
CACNA1E	777	broad.mit.edu	37	chr1	181546939	181546939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacccacttcaatactcacGtggacctgaggaccctccgg	9	15	2	1	rs140645319	by1000genomes	TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr1:181546939G>A	uc001gow.2	+	4	715	c.550G>A	c.(550-552)GTG>ATG	p.V184M	CACNA1E_uc009wxr.2_Missense_Mutation_p.V91M|CACNA1E_uc009wxs.2_Missense_Mutation_p.V91M	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	184	I.|Extracellular (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						CAATACTCACGTGGACCTGAG	0.547													A	181546939	G	A	181546939	3	1	62	1	0	0	0	0	1	0	0	0	2542	1145	40	1	564	1	CACNA1E	1	181546939	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08	12447625	181546939	67703682	9	44607											
SLC26A9	115019	broad.mit.edu	37	chr1	205901913	205901913	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaggccattgactgcaggaAggttggccagcagagcaaat	14	8	0	3			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr1:205901913A>T	uc001hdq.2	-	4	407	c.293T>A	c.(292-294)CTT>CAT	p.L98H	SLC26A9_uc001hdp.2_Missense_Mutation_p.L98H	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	solute carrier family 26, member 9 isoform a	98	Helical; (Potential).					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			ovary(1)|skin(1)	2	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GACTGCAGGAAGGTTGGCCAG	0.572													T	205901913	A	T	205901913	3	4	62	1	0	0	0	0	1	0	0	0	14524	72	3	5	2450	5	SLC26A9	1	205901913	Missense_Mutation	SNP	A	TCGA-BR-8077-01A-11D-2340-08	24354974	205901913	43348708	10	44608											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209933473	209933473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcgcaggcaagagatccGtgaaagccgccgctgccgtc	14	13	0	3	rs142003331	byFrequency	TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr1:209933473G>A	uc001hho.2	+	3	379	c.89G>A	c.(88-90)CGT>CAT	p.R30H	TRAF3IP3_uc001hhl.2_Missense_Mutation_p.R30H|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.R30H|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.R30H|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.R30H	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	30	Cytoplasmic (Potential).					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CAAGAGATCCGTGAAAGCCGC	0.627													A	209933473	G	A	209933473	3	1	62	1	0	0	0	0	1	0	0	0	16439	1145	40	1	91	1	TRAF3IP3	1	209933473	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08	4031560	209933473	39317148	11	44609											
ARID4B	51742	broad.mit.edu	37	chr1	235377337	235377337	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcttcttctttattcgtttCatctcttgaaaggtttaaaa	4	7	5	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr1:235377337C>T	uc001hwq.2	-	17	2086	c.1588G>A	c.(1588-1590)GAA>AAA	p.E530K	ARID4B_uc001hwr.2_Intron|ARID4B_uc001hws.3_Intron|ARID4B_uc001hwt.3_Missense_Mutation_p.E211K	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	530	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			tTATTCGTTTCATCTCTTGAA	0.189													T	235377337	C	T	235377337	3	4	62	1	0	0	0	0	1	0	0	0	920	835	29	4	2382	4	ARID4B	1	235377337	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	25443864	235377337	13873284	12	44610											
SRBD1	55133	broad.mit.edu	37	chr2	45620206	45620207	+	Frame_Shift_Ins	INS	-	-	T													cttttcaaggaatgaatttaINSttttttgttgcatttcaggc							TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr2:45620206_45620207insT	uc002rus.2	-	20	2651_2652	c.2575_2576insA	c.(2575-2577)ATAfs	p.I859fs	SRBD1_uc010yoc.1_Frame_Shift_Ins_p.I378fs	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	859					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GAATGAATTTATTTTTTGTTGC	0.386													T	45620207	-	T	45620206	7	5	62	1	0	1	1	0	0	0	0	0	15132	449	16	0	419	0	SRBD1	2	45620206	Frame_Shift_Ins	INS	-	TCGA-BR-8077-01A-11D-2340-08		45620206	197579167	13	44611	157	2									
SRBD1	55133	broad.mit.edu	37	chr2	45620207	45620208	+	Frame_Shift_Ins	INS	-	-	T													ttttcaaggaatgaatttatINStttttgttgcatttcaggct							TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr2:45620206_45620207A>AT	uc002rus.3	-	19	2651_2652	c.2575_2576T>AT	c.(2575-2577)atafs	p.I859fs	SRBD1_uc010yoc.2_Frame_Shift_Ins_p.I378fs	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	859					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GAATGAATTTATTTTTTGTTGC	0.386													T	45620208	-	T	45620207	7	5	62	1	0	1	1	0	0	0	0	0	15132	1493	52	0	420	0	SRBD1	2	45620207	Frame_Shift_Ins	INS	-	TCGA-BR-8077-01A-11D-2340-08	1	45620207	197579166	14	44612	157	2									
PNPT1	87178	broad.mit.edu	37	chr2	55874501	55874501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaatatctgtcagcaaaCgataatcttctatttcaccc	3	12	5	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr2:55874501C>T	uc002rzf.2	-	19	1636	c.1583G>A	c.(1582-1584)CGT>CAT	p.R528H	PNPT1_uc002rzg.2_RNA	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	528					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)			TGTCAGCAAACGATAATCTTC	0.289													T	55874501	C	T	55874501	3	4	62	1	0	0	0	0	1	0	0	0	12173	536	19	1	808	1	PNPT1	2	55874501	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	10254294	55874501	187324872	15	44613											
RETSAT	54884	broad.mit.edu	37	chr2	85571127	85571127	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactttaccccctaccttccCctccagctgtgggaacagtt	6	16	0	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr2:85571127C>A	uc002spd.2	-	9	1719	c.1528G>T	c.(1528-1530)GGG>TGG	p.G510W	RETSAT_uc010fge.2_Intron|RETSAT_uc010ysm.1_Missense_Mutation_p.G449W|RETSAT_uc010fgf.2_Missense_Mutation_p.G301W	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	all-trans-13,14-dihydroretinol saturase	510					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)	CCTACCTTCCCCTCCAGCTGT	0.542													A	85571127	C	A	85571127	3	1	62	1	0	0	0	0	1	0	0	0	13238	623	22	5	316	5	RETSAT	2	85571127	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	29696626	85571127	157628246	16	44614											
NEB	4703	broad.mit.edu	37	chr2	152483704	152483704	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcctctcagccactggagatCagatttgtaaatgttctgga	10	9	3	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr2:152483704C>G	uc010fnx.2	-	66	9621	c.9430G>C	c.(9430-9432)GAT>CAT	p.D3144H		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3144	Nebulin 85.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		CACTGGAGATCAGATTTGTAA	0.393													G	152483704	C	G	152483704	3	3	62	1	0	0	0	0	1	0	0	0	10302	826	29	5	15979	5	NEB	2	152483704	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	66912577	152483704	90715669	17	44615											
LRP2	4036	broad.mit.edu	37	chr2	170072858	170072858	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcccagtaaagagagtttTcacagatgtgccatccatgt	9	9	1	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr2:170072858T>C	uc002ues.2	-	35	5944	c.5731A>G	c.(5731-5733)AAA>GAA	p.K1911E		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1911	LDL-receptor class B 17.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AAGAGAGTTTTCACAGATGTG	0.493													C	170072858	T	C	170072858	3	2	62	1	0	0	0	0	1	0	0	0	8956	1792	62	3	8416	3	LRP2	2	170072858	Missense_Mutation	SNP	T	TCGA-BR-8077-01A-11D-2340-08	17589154	170072858	73126515	18	44616											
DNAH7	56171	broad.mit.edu	37	chr2	196729342	196729342	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	atctggtgacagactgccttCcactccctccaacccctact	5	18	1	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr2:196729342C>G	uc002utj.3	-	41	7138	c.7037G>C	c.(7036-7038)GGA>GCA	p.G2346A		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2346	ATP (Potential).|AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						AGACTGCCTTCCACTCCCTCC	0.473													G	196729342	C	G	196729342	3	3	62	1	0	0	0	0	1	0	0	0	4606	855	30	5	5137	5	DNAH7	2	196729342	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	26656484	196729342	46470031	19	44617											
CCNYL1	151195	broad.mit.edu	37	chr2	208611776	208611776	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctctattttacaggtttaCttagaaaggcttttaactta	6	6	1	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr2:208611776C>T	uc002vci.2	+	6	849	c.492C>T	c.(490-492)TAC>TAT	p.Y164Y	CCNYL1_uc002vch.2_Silent_p.Y145Y	NM_001142300	NP_001135772	Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1 isoform 1	215	Cyclin N-terminal.				regulation of cyclin-dependent protein kinase activity		protein kinase binding				0				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		TACAGGTTTACTTAGAAAGGC	0.318													T	208611776	C	T	208611776	2	4	62	1	0	0	0	0	0	0	0	1	2937	576	20	4		4	CCNYL1	2	208611776	Silent	SNP	C	TCGA-BR-8077-01A-11D-2340-08	11882434	208611776	34587597	20	44618											
GMPS	8833	broad.mit.edu	37	chr3	155649637	155649637	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcacttatttttctggctagGcttatacctcgcatgtgtca	7	10	3	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr3:155649637G>C	uc003faq.2	+	13	1979	c.1644G>C	c.(1642-1644)AGG>AGC	p.R548S	GMPS_uc011bom.1_Missense_Mutation_p.R449S	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	548					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTCTGGCTAGGCTTATACCTC	0.428			T	MLL	AML								C	155649637	G	C	155649637	3	2	62	1	0	0	0	0	1	0	0	0	6498	1194	42	5	1694	5	GMPS	3	155649637	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08		155649637	42372793	21	44619											
CRIPAK	285464	broad.mit.edu	37	chr4	1388392	1388392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcatgtgcccatgtggaGtgcccgcctgctcacacatg	11	14	2	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr4:1388392G>A	uc003gdf.2	+	1	3053	c.93G>A	c.(91-93)GAG>GAA	p.E31E		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	31					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCATGTGGAGTGCCCGCCTG	0.622													A	1388392	G	A	1388392	2	1	62	1	0	0	0	0	0	0	0	1	3877	1020	36	4		4	CRIPAK	4	1388392	Silent	SNP	G	TCGA-BR-8077-01A-11D-2340-08		1388392	189765884	22	44620											
FAM53A	152877	broad.mit.edu	37	chr4	1657119	1657119	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgccgcgtggcactcccGccgctgtcgcaccgcctctt	10	21	1	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr4:1657119G>A	uc011bve.1	-	4	666	c.468C>T	c.(466-468)GGC>GGT	p.G156G	FAM53A_uc010ibw.2_Silent_p.G156G	NM_001013622	NP_001013644	Q6NSI3	FA53A_HUMAN	dorsal neural-tube nuclear protein	156						nucleus					0		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			TGGCACTCCCGCCGCTGTCGC	0.736													A	1657119	G	A	1657119	2	1	62	1	0	0	0	0	0	0	0	1	5579	1074	38	1		1	FAM53A	4	1657119	Silent	SNP	G	TCGA-BR-8077-01A-11D-2340-08	268727	1657119	189497157	23	44621											
PI4K2B	55300	broad.mit.edu	37	chr4	25256828	25256828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctaatcaggggtacctttccGaagcgggtgcctatcttgtg	12	10	2	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr4:25256828G>A	uc003grk.2	+	3	698	c.565G>A	c.(565-567)GAA>AAA	p.E189K	PI4K2B_uc011bxs.1_Missense_Mutation_p.E93K	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	189	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			ovary(2)|skin(2)	4		Breast(46;0.173)				GTACCTTTCCGAAGCGGGTGC	0.443													A	25256828	G	A	25256828	3	1	62	1	0	0	0	0	1	0	0	0	11872	1059	37	1	575	1	PI4K2B	4	25256828	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08	23599709	25256828	165897448	24	44622											
CDH9	1007	broad.mit.edu	37	chr5	26903778	26903778	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tataatcccttcctgtgtatCcttgtcagtgatgacatcga	7	10	1	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr5:26903778C>A	uc003jgs.1	-	6	1136	c.967G>T	c.(967-969)GAT>TAT	p.D323Y	CDH9_uc010iug.2_Missense_Mutation_p.D323Y	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	323	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						TCCTGTGTATCCTTGTCAGTG	0.403													A	26903778	C	A	26903778	3	1	62	1	0	0	0	0	1	0	0	0	3117	855	30	5	1430	5	CDH9	5	26903778	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08		26903778	154011482	25	44623											
RXFP3	51289	broad.mit.edu	37	chr5	33937437	33937437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggacccgaggacacggcCggggcgactgctgcggccgg	18	15	0	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr5:33937437C>T	uc003jic.1	+	1	949	c.592C>T	c.(592-594)CGG>TGG	p.R198W		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	198	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						AGGACACGGCCGGGGCGACTG	0.672													T	33937437	C	T	33937437	3	4	62	1	0	0	0	0	1	0	0	0	13761	643	23	1	594	1	RXFP3	5	33937437	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	7033659	33937437	146977823	26	44624											
AGXT2	64902	broad.mit.edu	37	chr5	35035360	35035360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctatgttgtttgagtgcGccctggccatcagcatggcc	12	11	2	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr5:35035360G>A	uc003jjf.2	-	5	627	c.548C>T	c.(547-549)GCG>GTG	p.A183V	AGXT2_uc011com.1_Missense_Mutation_p.A183V|AGXT2_uc011con.1_Missense_Mutation_p.A91V	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	alanine-glyoxylate aminotransferase 2 precursor	183					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(3)|skin(1)	4	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GTTTGAGTGCGCCCTGGCCAT	0.433													A	35035360	G	A	35035360	3	1	62	1	0	0	0	0	1	0	0	0	405	1087	38	1	1036	1	AGXT2	5	35035360	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08	1097923	35035360	145879900	27	44625											
SPEF2	79925	broad.mit.edu	37	chr5	35806993	35806993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagtgttcaaagggggaaGtgaagcacaggactccaata	12	7	1	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr5:35806993G>A	uc003jjo.2	+	35	5306	c.5195G>A	c.(5194-5196)AGT>AAT	p.S1732N	SPEF2_uc003jjp.1_Missense_Mutation_p.S1218N|SPEF2_uc003jjr.2_Missense_Mutation_p.S787N	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1732					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAGGGGGAAGTGAAGCACAG	0.393													A	35806993	G	A	35806993	3	1	62	1	0	0	0	0	1	0	0	0	15034	1029	36	4	5354	4	SPEF2	5	35806993	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08	771633	35806993	145108267	28	44626											
UGT3A2	167127	broad.mit.edu	37	chr5	36037997	36037997	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactttttggcttctactcgGaccatgttttcaggctggtc	9	10	2	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr5:36037997G>A	uc003jjz.1	-	6	1290	c.1197C>T	c.(1195-1197)GTC>GTT	p.V399V	UGT3A2_uc011cos.1_Silent_p.V365V|UGT3A2_uc011cot.1_Silent_p.V97V	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	399	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTCTACTCGGACCATGTTTT	0.478													A	36037997	G	A	36037997	2	1	62	1	0	0	0	0	0	0	0	1	16961	1161	41	4		4	UGT3A2	5	36037997	Silent	SNP	G	TCGA-BR-8077-01A-11D-2340-08	231004	36037997	144877263	29	44627											
CDC20B	166979	broad.mit.edu	37	chr5	54415675	54415675	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgggacaggtccacacagtCacatcattcttgggagtacc	11	11	3	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr5:54415675C>A	uc003jpo.1	-	11	1588	c.1413G>T	c.(1411-1413)GTG>GTT	p.V471V	CDC20B_uc003jpn.1_Silent_p.V471V|CDC20B_uc010ivu.1_Silent_p.V429V	NM_152623	NP_689836	Q86Y33	CD20B_HUMAN	CDC20 cell division cycle 20 homolog B isoform	471	WD 6.										0		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TCCACACAGTCACATCATTCT	0.423													A	54415675	C	A	54415675	2	1	62	1	0	0	0	0	0	0	0	1	3060	813	29	5		5	CDC20B	5	54415675	Silent	SNP	C	TCGA-BR-8077-01A-11D-2340-08	18377678	54415675	126499585	30	44628											
ZNF366	167465	broad.mit.edu	37	chr5	71757315	71757315	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctttgatcatcttcatttcCttctgcatccttggcaattt	4	11	5	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr5:71757315C>G	uc003kce.1	-	2	195	c.9G>C	c.(7-9)AAG>AAC	p.K3N		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TCTTCATTTCCTTCTGCATCC	0.423													G	71757315	C	G	71757315	3	3	62	1	0	0	0	0	1	0	0	0	17867	680	24	5	2241	5	ZNF366	5	71757315	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	17341640	71757315	109157945	31	44629											
GPR98	84059	broad.mit.edu	37	chr5	90024493	90024493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatttccttcaggtcttcaGgtggaatggaggaagcttcg	12	8	3	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr5:90024493G>A	uc003kju.2	+	49	10265	c.10169G>A	c.(10168-10170)AGG>AAG	p.R3390K	GPR98_uc003kjt.2_Missense_Mutation_p.R1096K|GPR98_uc003kjv.2_Missense_Mutation_p.R990K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3390	Extracellular (Potential).|EAR 3.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGGTCTTCAGGTGGAATGGA	0.433													A	90024493	G	A	90024493	3	1	62	1	0	0	0	0	1	0	0	0	6721	1000	35	4	10363	4	GPR98	5	90024493	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08	18267178	90024493	90890767	32	44630											
FER	2241	broad.mit.edu	37	chr5	108134020	108134020	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taaagaatatgcatctacttTacagaacctttgtaatcaag	5	7	2	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr5:108134020T>A	uc003kop.1	+	3	521	c.137T>A	c.(136-138)TTA>TAA	p.L46*	FER_uc011cve.1_Intron|FER_uc011cvf.1_RNA|FER_uc003koq.2_Nonsense_Mutation_p.L46*|FER_uc011cvg.1_5'UTR	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	46	Important for interaction with membranes containing phosphoinositides.|FCH.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GCATCTACTTTACAGAACCTT	0.328													A	108134020	T	A	108134020	4	1	62	1	0	0	0	0	0	1	0	0	5813	1764	61	5	139	5	FER	5	108134020	Nonsense_Mutation	SNP	T	TCGA-BR-8077-01A-11D-2340-08	18109527	108134020	72781240	33	44631											
PCDHA11	56138	broad.mit.edu	37	chr5	140250469	140250469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgtggtggcgaaggtgcGcgcagtggatgcggactcag	18	10	1	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr5:140250469G>A	uc003lia.2	+	1	2639	c.1781G>A	c.(1780-1782)CGC>CAC	p.R594H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.R594H	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	594	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAAGGTGCGCGCAGTGGAT	0.687													A	140250469	G	A	140250469	3	1	62	1	0	0	0	0	1	0	0	0	11521	1087	38	1	1783	1	PCDHA11	5	140250469	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08	32116449	140250469	40664791	34	44632											
UIMC1	51720	broad.mit.edu	37	chr5	176395935	176395936	+	Missense_Mutation	DNP	AC	AC	CT													gaataccccagaaatagttcAcagtgcccccagtgtcctgg							TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr5:176395935_176395936AC>CT	uc011dfp.1	-	6	987_988	c.820_821GT>AG	c.(820-822)GTG>AGG	p.V274R	UIMC1_uc003mfc.1_Missense_Mutation_p.V151R|UIMC1_uc003mfd.1_Intron|UIMC1_uc003mfg.1_Intron|UIMC1_uc003mff.1_Intron	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	274	AIR.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			ovary(3)|skin(1)	4	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAATAGTTCACAGTGCCCCCA	0.505													CT	176395936	AC	CT	176395935	3	2	62	1	0	0	0	0	1	0	0	0	16968	159	6	5	1378	5	UIMC1	5	176395935	Missense_Mutation	DNP	AC	TCGA-BR-8077-01A-11D-2340-08	36145466	176395935	4519325	35	44633											
CDYL	9425	broad.mit.edu	37	chr6	4937947	4937947	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatgacaggaaaagagaaaGcactaaaatggcagaagcta	11	5	0	4			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr6:4937947G>T	uc003mwi.2	+	6	1390	c.1259G>T	c.(1258-1260)AGC>ATC	p.S420I	CDYL_uc003mwj.2_Missense_Mutation_p.S366I|CDYL_uc003mwk.2_Missense_Mutation_p.S131I|CDYL_uc011dhx.1_Missense_Mutation_p.S234I|CDYL_uc011dhy.1_Missense_Mutation_p.S234I	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	420					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AAAAGAGAAAGCACTAAAATG	0.403													T	4937947	G	T	4937947	3	4	62	1	0	0	0	0	1	0	0	0	3185	971	34	5	1111	5	CDYL	6	4937947	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08		4937947	166177120	36	44634											
DNAH8	1769	broad.mit.edu	37	chr6	38840773	38840773	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgacaataaaactctgacGttagctaatggagatcgcat	9	7	1	3	rs114719419		TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr6:38840773G>T	uc003ooe.1	+	49	7278	c.6678G>T	c.(6676-6678)ACG>ACT	p.T2226T		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8									p.T2226M(1)		skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						AAACTCTGACGTTAGCTAATG	0.428													T	38840773	G	T	38840773	2	4	62	1	0	0	0	0	0	0	0	1	4607	1132	40	5		5	DNAH8	6	38840773	Silent	SNP	G	TCGA-BR-8077-01A-11D-2340-08	33902826	38840773	132274294	37	44635											
SNAP91	9892	broad.mit.edu	37	chr6	84371281	84371281	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaaagccttttcattcAaatatctactatagcgcctt	4	9	3	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr6:84371281A>C	uc011dze.1	-	5	709	c.392T>G	c.(391-393)TTG>TGG	p.L131W	SNAP91_uc003pkb.2_Missense_Mutation_p.L96W|SNAP91_uc003pkc.2_Missense_Mutation_p.L131W|SNAP91_uc003pkd.2_Missense_Mutation_p.L131W|SNAP91_uc003pka.2_Missense_Mutation_p.L131W|SNAP91_uc011dzf.1_Missense_Mutation_p.L12W	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	131	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CTTTTCATTCAAATATCTACT	0.328													C	84371281	A	C	84371281	3	2	62	1	0	0	0	0	1	0	0	0	14833	131	5	5	2427	5	SNAP91	6	84371281	Missense_Mutation	SNP	A	TCGA-BR-8077-01A-11D-2340-08	45530508	84371281	86743786	38	44636											
NCOA7	135112	broad.mit.edu	37	chr6	126176272	126176272	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atacagtagttttagagccaGacaagtgcaacattgctgtg	10	7	0	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr6:126176272G>C	uc010kes.2	+	5	606	c.157G>C	c.(157-159)GAC>CAC	p.D53H	NCOA7_uc003qae.3_Missense_Mutation_p.D53H|NCOA7_uc003qah.2_Missense_Mutation_p.D53H|NCOA7_uc003qai.2_Missense_Mutation_p.D53H|NCOA7_uc010ket.2_Intron|NCOA7_uc003qaf.2_Missense_Mutation_p.D53H|NCOA7_uc003qag.2_Missense_Mutation_p.D53H|NCOA7_uc003qaj.2_Missense_Mutation_p.D53H	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	53					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TTTAGAGCCAGACAAGTGCAA	0.378													C	126176272	G	C	126176272	3	2	62	1	0	0	0	0	1	0	0	0	10234	942	33	5	163	5	NCOA7	6	126176272	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08	41804991	126176272	44938795	39	44637											
INMT	11185	broad.mit.edu	37	chr7	30795204	30795204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtagccttgatgcctacCgcgctgccctgtgcaacctt	10	15	0	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr7:30795204C>T	uc003tbs.1	+	3	545	c.529C>T	c.(529-531)CGC>TGC	p.R177C	FAM188B_uc010kwe.2_Intron|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Missense_Mutation_p.R176C	NM_006774	NP_006765	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	177						cytoplasm	amine N-methyltransferase activity				0						TGATGCCTACCGCGCTGCCCT	0.657													T	30795204	C	T	30795204	3	4	62	1	0	0	0	0	1	0	0	0	7745	652	23	1	539	1	INMT	7	30795204	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08		30795204	128343459	40	44638											
GCK	2645	broad.mit.edu	37	chr7	44191983	44191983	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcaccagcatcaccctgaAgttagtgccacccaggtcca	7	16	2	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr7:44191983A>C	uc003tkl.2	-	3	720	c.250T>G	c.(250-252)TTC>GTC	p.F84V	GCK_uc003tkj.1_Missense_Mutation_p.F83V|GCK_uc003tkk.1_Missense_Mutation_p.F85V	NM_000162	NP_000153	P35557	HXK4_HUMAN	glucokinase isoform 1	84					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			skin(3)|lung(1)	4						ATCACCCTGAAGTTAGTGCCA	0.597													C	44191983	A	C	44191983	3	2	62	1	0	0	0	0	1	0	0	0	6293	72	3	5	1179	5	GCK	7	44191983	Missense_Mutation	SNP	A	TCGA-BR-8077-01A-11D-2340-08	13396779	44191983	114946680	41	44639											
PON2	5445	broad.mit.edu	37	chr7	95035535	95035535	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aggatcaatagataaattatCcaccagtgtatccagctcaa	6	9	2	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr7:95035535C>G	uc003unv.2	-	8	923	c.802G>C	c.(802-804)GAT>CAT	p.D268H	PON2_uc003unu.2_Missense_Mutation_p.D256H|PON2_uc010lfk.2_RNA|PON2_uc003unw.2_Missense_Mutation_p.D181H	NM_000305	NP_000296	Q15165	PON2_HUMAN	paraoxonase 2 isoform 1	268		Calcium 1; catalytic (By similarity).			aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding				0	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			GATAAATTATCCACCAGTGTA	0.428													G	95035535	C	G	95035535	3	3	62	1	0	0	0	0	1	0	0	0	12249	855	30	5	270	5	PON2	7	95035535	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	50843552	95035535	64103128	42	44640											
DUS4L	11062	broad.mit.edu	37	chr7	107214184	107214184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgttcagtttgctgctaacGatgcaagacttttatctgat	8	7	2	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr7:107214184G>A	uc003veh.2	+	5	607	c.274G>A	c.(274-276)GAT>AAT	p.D92N	DUS4L_uc003veg.2_Intron|DUS4L_uc011klw.1_Intron|DUS4L_uc011klx.1_5'UTR|DUS4L_uc010ljl.2_5'Flank	NM_181581	NP_853559	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like	92					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity				0						TGCTGCTAACGATGCAAGACT	0.403													A	107214184	G	A	107214184	3	1	62	1	0	0	0	0	1	0	0	0	4808	1058	37	1	284	1	DUS4L	7	107214184	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08	12178649	107214184	51924479	43	44641											
CPA5	93979	broad.mit.edu	37	chr7	130008389	130008389	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccacggcccaggagacgtGgatggcgcttcggaccatca	13	15	1	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr7:130008389G>T	uc010lmd.1	+	14	1882	c.1262G>T	c.(1261-1263)TGG>TTG	p.W421L	CPA5_uc003vps.2_Missense_Mutation_p.W421L|CPA5_uc003vpt.2_Nonsense_Mutation_p.G393*|CPA5_uc010lme.1_Missense_Mutation_p.W421L|CPA5_uc003vpu.1_Missense_Mutation_p.W421L|uc003vpv.1_RNA	NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5 isoform 1	421					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2	Melanoma(18;0.0435)					CAGGAGACGTGGATGGCGCTT	0.607													T	130008389	G	T	130008389	3	4	62	1	0	0	0	0	1	0	0	0	3793	1358	47	5	1304	5	CPA5	7	130008389	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08	22794205	130008389	29130274	44	44642											
CLCN1	1180	broad.mit.edu	37	chr7	143027909	143027909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctccacctactttgctgttCggaactactggagaggattc	9	12	0	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr7:143027909C>T	uc003wcr.1	+	8	985	c.898C>T	c.(898-900)CGG>TGG	p.R300W	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_RNA|CLCN1_uc010lox.1_RNA|CLCN1_uc010loy.1_Silent_p.F95F	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	300			R -> Q.		muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)					CTTTGCTGTTCGGAACTACTG	0.557													T	143027909	C	T	143027909	3	4	62	1	0	0	0	0	1	0	0	0	3462	875	31	1	928	1	CLCN1	7	143027909	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	13019520	143027909	16110754	45	44643											
KCNH2	3757	broad.mit.edu	37	chr7	150648871	150648871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtagcgatccagcttcCgcgccacgcgcaccagccgc	11	18	0	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr7:150648871C>T	uc003wic.2	-	7	1623	c.1610G>A	c.(1609-1611)CGG>CAG	p.R537Q	KCNH2_uc003wib.2_Missense_Mutation_p.R197Q|KCNH2_uc011kux.1_Missense_Mutation_p.R441Q|KCNH2_uc003wid.2_Missense_Mutation_p.R197Q|KCNH2_uc003wie.2_Missense_Mutation_p.R537Q	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	537	Helical; Voltage-sensor; Name=Segment S4; (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	ATCCAGCTTCCGCGCCACGCG	0.657													T	150648871	C	T	150648871	3	4	62	1	0	0	0	0	1	0	0	0	8032	652	23	1	2174	1	KCNH2	7	150648871	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	7620962	150648871	8489792	46	44644											
GALNT11	63917	broad.mit.edu	37	chr7	151805280	151805280	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacagctcgtcccctgtcgtCcgcggagggttcaactgggg	14	13	1	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr7:151805280C>T	uc010lqg.1	+	6	1100	c.870C>T	c.(868-870)GTC>GTT	p.V290V	GALNT11_uc011kvm.1_Silent_p.V209V|GALNT11_uc003wku.2_Silent_p.V290V|GALNT11_uc011kvn.1_RNA|GALNT11_uc003wkw.1_Silent_p.V38V	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	290	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CCCCTGTCGTCCGCGGAGGGT	0.602													T	151805280	C	T	151805280	2	4	62	1	0	0	0	0	0	0	0	1	6209	842	30	4		4	GALNT11	7	151805280	Silent	SNP	C	TCGA-BR-8077-01A-11D-2340-08	1156409	151805280	7333383	47	44645											
DLC1	10395	broad.mit.edu	37	chr8	12957702	12957702	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccattgagggcggagatcTccacgcagttgagctgcttc	13	11	1	3			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr8:12957702T>C	uc003wwm.2	-	9	2588	c.2144A>G	c.(2143-2145)GAG>GGG	p.E715G	DLC1_uc003wwk.1_Missense_Mutation_p.E278G|DLC1_uc003wwl.1_Missense_Mutation_p.E312G|DLC1_uc011kxx.1_Missense_Mutation_p.E204G	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	715					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GGCGGAGATCTCCACGCAGTT	0.582													C	12957702	T	C	12957702	3	2	62	1	0	0	0	0	1	0	0	0	4550	1551	54	3	2482	3	DLC1	8	12957702	Missense_Mutation	SNP	T	TCGA-BR-8077-01A-11D-2340-08		12957702	133406320	48	44646											
TUSC3	7991	broad.mit.edu	37	chr8	15397991	15397991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagcggggcggcggctgCggtacctgcccaccgggagc	19	14	0	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr8:15397991C>T	uc003wwt.2	+	1	262	c.52C>T	c.(52-54)CGG>TGG	p.R18W	TUSC3_uc003wwr.2_Missense_Mutation_p.R18W|TUSC3_uc003wws.2_Missense_Mutation_p.R18W|TUSC3_uc003wwu.2_Missense_Mutation_p.R18W|TUSC3_uc003wwv.2_Missense_Mutation_p.R18W|TUSC3_uc003www.2_Missense_Mutation_p.R18W|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.R18W	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	18					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		GCGGCGGCTGCGGTACCTGCC	0.687													T	15397991	C	T	15397991	3	4	62	1	0	0	0	0	1	0	0	0	16775	759	27	1	54	1	TUSC3	8	15397991	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	2440289	15397991	130966031	49	44647											
UNC5D	137970	broad.mit.edu	37	chr8	35541183	35541183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggactcaggaaattacaCctgcatggcagccaacatcg	9	13	1	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr8:35541183C>T	uc003xjr.1	+	5	1017	c.689C>T	c.(688-690)ACC>ATC	p.T230I	UNC5D_uc003xjs.1_Missense_Mutation_p.T225I|UNC5D_uc003xjt.1_5'UTR	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	230	Extracellular (Potential).|Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGAAATTACACCTGCATGGCA	0.537													T	35541183	C	T	35541183	3	4	62	1	0	0	0	0	1	0	0	0	16992	507	18	4	707	4	UNC5D	8	35541183	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	20143192	35541183	110822839	50	44648											
MRPL15	29088	broad.mit.edu	37	chr8	55060008	55060008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaaaagaatgcttccacCagaagaactggtaccatatt	6	10	0	3			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr8:55060008C>T	uc003xsa.2	+	5	683	c.620C>T	c.(619-621)CCA>CTA	p.P207L		NM_014175	NP_054894	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15 precursor	207					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome				0		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			ATGCTTCCACCAGAAGAACTG	0.413													T	55060008	C	T	55060008	3	4	62	1	0	0	0	0	1	0	0	0	9780	594	21	4	638	4	MRPL15	8	55060008	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	19518825	55060008	91304014	51	44649											
CA3	761	broad.mit.edu	37	chr8	86360349	86360349	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tggcgacctccacagcctatCaataacagggtggtgagagc	12	11	1	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr8:86360349C>G	uc003ydj.2	+	7	833	c.750C>G	c.(748-750)ATC>ATG	p.I250M	CA3_uc011lfv.1_RNA	NM_005181	NP_005172	P07451	CAH3_HUMAN	carbonic anhydrase III	250					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0						CACAGCCTATCAATAACAGGG	0.562													G	86360349	C	G	86360349	3	3	62	1	0	0	0	0	1	0	0	0	2517	816	29	5	776	5	CA3	8	86360349	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	31300341	86360349	60003673	52	44650											
NECAB1	64168	broad.mit.edu	37	chr8	91940518	91940518	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaaattaattgatagactGgaaaagaaggtaggtgcttt	11	3	0	4			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr8:91940518G>T	uc011lgg.1	+	8	878	c.684G>T	c.(682-684)CTG>CTT	p.L228L		NM_022351	NP_071746	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	228	Potential.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.0499)			TTGATAGACTGGAAAAGAAGG	0.403													T	91940518	G	T	91940518	2	4	62	1	0	0	0	0	0	0	0	1	10304	1335	47	5		5	NECAB1	8	91940518	Silent	SNP	G	TCGA-BR-8077-01A-11D-2340-08	5580169	91940518	54423504	53	44651											
ZFPM2	23414	broad.mit.edu	37	chr8	106815129	106815129	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcccacctagcaaccctgcAaggcttgaaggtctttagtg	9	12	1	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr8:106815129A>G	uc003ymd.2	+	8	2842	c.2819A>G	c.(2818-2820)CAA>CGA	p.Q940R	ZFPM2_uc011lhs.1_Missense_Mutation_p.Q671R	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	940					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GCAACCCTGCAAGGCTTGAAG	0.413													G	106815129	A	G	106815129	3	3	62	1	0	0	0	0	1	0	0	0	17655	130	5	3	2849	3	ZFPM2	8	106815129	Missense_Mutation	SNP	A	TCGA-BR-8077-01A-11D-2340-08	14874611	106815129	39548893	54	44652											
ZNF572	137209	broad.mit.edu	37	chr8	125990059	125990059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaactgttcaggggaaatgCccttcatctcttcattttcc	6	11	4	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr8:125990059C>T	uc003yrr.2	+	3	1704	c.1549C>T	c.(1549-1551)CCC>TCC	p.P517S		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGGGGAAATGCCCTTCATCTC	0.438										HNSCC(60;0.17)			T	125990059	C	T	125990059	3	4	62	1	0	0	0	0	1	0	0	0	18001	739	26	2	1555	2	ZNF572	8	125990059	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	19174930	125990059	20373963	55	44653											
GPT	2875	broad.mit.edu	37	chr8	145731400	145731400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaccaggacaacgtgtacgCcgcgggttcgcagttccact	12	13	0	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr8:145731400C>T	uc011lli.1	+	8	999	c.842C>T	c.(841-843)GCC>GTC	p.A281V	GPT_uc011llj.1_Silent_p.R303R|GPT_uc003zdh.3_Missense_Mutation_p.A281V	NM_005309	NP_005300	P24298	ALAT1_HUMAN	glutamic pyruvate transaminase	281					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)|central_nervous_system(1)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AACGTGTACGCCGCGGGTTCG	0.677													T	145731400	C	T	145731400	3	4	62	1	0	0	0	0	1	0	0	0	6737	739	26	2	868	2	GPT	8	145731400	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	19741341	145731400	632622	56	44654											
SETX	23064	broad.mit.edu	37	chr9	135202659	135202660	+	Nonsense_Mutation	DNP	AC	AC	CT													ccatttaacactacagaatcAcactggttcaaagggcaagc							TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr9:135202659_135202660AC>CT	uc004cbk.2	-	10	4508_4509	c.4325_4326GT>AG	c.(4324-4326)TGT>TAG	p.C1442*	SETX_uc004cbj.2_Nonsense_Mutation_p.C1061*|SETX_uc010mzt.2_Nonsense_Mutation_p.C1061*	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	1442					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTACAGAATCACACTGGTTCAA	0.416													CT	135202660	AC	CT	135202659	4	2	62	1	0	0	0	0	0	1	0	0	14141	157	6	5	3775	5	SETX	9	135202659	Nonsense_Mutation	DNP	AC	TCGA-BR-8077-01A-11D-2340-08		135202659	6010772	57	44655											
TRDMT1	1787	broad.mit.edu	37	chr10	17216575	17216575	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcttggcaagtaactgtGtgtgaggaaaattatacttg	11	5	1	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr10:17216575G>T	uc001iop.2	-	2	197	c.149C>A	c.(148-150)ACA>AAA	p.T50K	TRDMT1_uc001ioq.2_Missense_Mutation_p.T50K|TRDMT1_uc001ior.2_Missense_Mutation_p.T50K|TRDMT1_uc001ios.2_5'UTR|TRDMT1_uc009xjt.2_Missense_Mutation_p.H17N|TRDMT1_uc010qcd.1_Missense_Mutation_p.T50K|TRDMT1_uc009xjs.1_Missense_Mutation_p.H17N|TRDMT1_uc009xju.1_RNA	NM_004412	NP_004403	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1 isoform	50					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			ovary(1)	1						AAGTAACTGTGTGTGAGGAAA	0.368													T	17216575	G	T	17216575	3	4	62	1	0	0	0	0	1	0	0	0	16464	1377	48	5	1066	5	TRDMT1	10	17216575	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08		17216575	118318172	58	44656											
AIFM2	84883	broad.mit.edu	37	chr10	71874730	71874730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagttgacgatgttggccaCggcgatgttggcgtggaggc	18	7	0	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr10:71874730C>T	uc010qjg.1	-	7	929	c.916G>A	c.(916-918)GTG>ATG	p.V306M	AIFM2_uc001jqp.1_Missense_Mutation_p.V306M	NM_032797	NP_116186	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor (AIF)-like	306					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)	1						ATGTTGGCCACGGCGATGTTG	0.592													T	71874730	C	T	71874730	3	4	62	1	0	0	0	0	1	0	0	0	427	536	19	1	213	1	AIFM2	10	71874730	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	54658155	71874730	63660017	59	44657											
EBF3	253738	broad.mit.edu	37	chr10	131665478	131665478	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagggtcacttcgacgacGccaggaatgtgcctcggcgg	16	11	1	1	rs151206880		TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr10:131665478G>A	uc001lki.1	-	10	998	c.939C>T	c.(937-939)GGC>GGT	p.G313G		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	322	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CTTCGACGACGCCAGGAATGT	0.582													A	131665478	G	A	131665478	2	1	62	1	0	0	0	0	0	0	0	1	4882	1074	38	1		1	EBF3	10	131665478	Silent	SNP	G	TCGA-BR-8077-01A-11D-2340-08	59790748	131665478	3869269	60	44658											
PHRF1	57661	broad.mit.edu	37	chr11	601629	601629	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgtccggaccatccgcaaaAagtaagagctcagcgacaag	10	13	1	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr11:601629A>T	uc001lqe.2	+	10	1211	c.1080A>T	c.(1078-1080)AAA>AAT	p.K360N	PHRF1_uc010qwc.1_Missense_Mutation_p.K360N|PHRF1_uc010qwd.1_Missense_Mutation_p.K359N|PHRF1_uc010qwe.1_Missense_Mutation_p.K356N|PHRF1_uc009ybz.1_Missense_Mutation_p.K151N	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	360	Arg-rich.						RNA polymerase binding|zinc ion binding				0						CATCCGCAAAAAGTAAGAGCT	0.512													T	601629	A	T	601629	3	4	62	1	0	0	0	0	1	0	0	0	11861	11	1	5	1114	5	PHRF1	11	601629	Missense_Mutation	SNP	A	TCGA-BR-8077-01A-11D-2340-08		601629	134404887	61	44659											
TALDO1	6888	broad.mit.edu	37	chr11	760142	760142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctcctttgataaagatgCgatggtggccagagccaggc	13	10	1	3			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr11:760142C>T	uc001lqz.2	+	4	400	c.350C>T	c.(349-351)GCG>GTG	p.A117V	TALDO1_uc010qwl.1_Missense_Mutation_p.A117V|TALDO1_uc001lra.2_Missense_Mutation_p.A117V	NM_006755	NP_006746	P37837	TALDO_HUMAN	transaldolase 1	117					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		GATAAAGATGCGATGGTGGCC	0.547													T	760142	C	T	760142	3	4	62	1	0	0	0	0	1	0	0	0	15540	768	27	1	364	1	TALDO1	11	760142	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	158513	760142	134246374	62	44660											
C11orf41	25758	broad.mit.edu	37	chr11	33564658	33564658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagagaatcatgcctccCcatctcctgtgccagaaatg	7	15	2	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr11:33564658C>T	uc001mup.3	+	1	782	c.658C>T	c.(658-660)CCA>TCA	p.P220S	C11orf41_uc001mun.1_Missense_Mutation_p.P220S	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	220						integral to membrane				ovary(2)	2						TCATGCCTCCCCATCTCCTGT	0.547											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	33564658	C	T	33564658	3	4	62	1	0	0	0	0	1	0	0	0	1640	623	22	4	660	4	C11orf41	11	33564658	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	32804516	33564658	101441858	63	44661											
GLYAT	10249	broad.mit.edu	37	chr11	58477426	58477426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccatggagccggtattccGgcaaggtgcctgccattctc	13	13	1	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr11:58477426G>A	uc001nnb.2	-	6	859	c.704C>T	c.(703-705)CCG>CTG	p.P235L		NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase isoform a	235					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity				0		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CCGGTATTCCGGCAAGGTGCC	0.547													A	58477426	G	A	58477426	3	1	62	1	0	0	0	0	1	0	0	0	6479	1116	39	1	190	1	GLYAT	11	58477426	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08	24912768	58477426	76529090	64	44662											
MARK2	2011	broad.mit.edu	37	chr11	63666571	63666571	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaagtttattgtccatagAgacttaaaggtaaggcatgc	10	6	0	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr11:63666571A>C	uc001nxw.2	+	7	1101	c.522A>C	c.(520-522)AGA>AGC	p.R174S	MARK2_uc001nxx.2_Missense_Mutation_p.R174S|MARK2_uc001nxy.2_Missense_Mutation_p.R174S|MARK2_uc001nxv.3_Missense_Mutation_p.R174S|MARK2_uc001nxz.3_Missense_Mutation_p.R141S|MARK2_uc009yoy.2_Missense_Mutation_p.R141S	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	174	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						TTGTCCATAGAGACTTAAAGG	0.493													C	63666571	A	C	63666571	3	2	62	1	0	0	0	0	1	0	0	0	9313	301	11	5	548	5	MARK2	11	63666571	Missense_Mutation	SNP	A	TCGA-BR-8077-01A-11D-2340-08	5189145	63666571	71339945	65	44663											
EFEMP2	30008	broad.mit.edu	37	chr11	65635413	65635413	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gggtagacggaggtcgcctgGatctggaacacgtcagcggg	18	9	2	1	rs150435989		TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr11:65635413G>C	uc001ofy.3	-	10	1283	c.1089C>G	c.(1087-1089)ATC>ATG	p.I363M	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.I363M	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	363					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		AGGTCGCCTGGATCTGGAACA	0.577													C	65635413	G	C	65635413	3	2	62	1	0	0	0	0	1	0	0	0	4942	1164	41	5	250	5	EFEMP2	11	65635413	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08	1968842	65635413	69371103	66	44664			1	17		2	2	14	N	T_G	5.585063e-05
EFEMP2	30008	broad.mit.edu	37	chr11	65635426	65635426	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgcctggatctggaacacgTcagcgggcacgctccgctcc	12	16	2	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr11:65635426T>C	uc001ofy.3	-	10	1270	c.1076A>G	c.(1075-1077)GAC>GGC	p.D359G	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.D359G	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	359					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		CTGGAACACGTCAGCGGGCAC	0.592													C	65635426	T	C	65635426	3	2	62	1	0	0	0	0	1	0	0	0	4942	1667	58	3	263	3	EFEMP2	11	65635426	Missense_Mutation	SNP	T	TCGA-BR-8077-01A-11D-2340-08	13	65635426	69371090	67	44665			1	17		2	2	14	N	T_G	5.585063e-05
PC	5091	broad.mit.edu	37	chr11	66639309	66639309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgcggatgcccagctccGtgcaggcccggaacacacgg	15	15	0	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr11:66639309G>A	uc001ojn.1	-	3	219	c.170C>T	c.(169-171)ACG>ATG	p.T57M	PC_uc001ojo.1_Missense_Mutation_p.T57M|PC_uc001ojp.1_Missense_Mutation_p.T57M	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	57	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GCCCAGCTCCGTGCAGGCCCG	0.577													A	66639309	G	A	66639309	3	1	62	1	0	0	0	0	1	0	0	0	11497	1145	40	1	3442	1	PC	11	66639309	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08	1003883	66639309	68367207	68	44666											
KCNE3	10008	broad.mit.edu	37	chr11	74168442	74168442	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agagaatgtacatgtaggagTtgtcatcacggccaggtagg	14	6	2	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr11:74168442T>A	uc001ovc.2	-	3	514	c.167A>T	c.(166-168)AAC>ATC	p.N56I	KCNE3_uc001ovd.2_Missense_Mutation_p.N56I	NM_005472	NP_005463	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related	56						integral to membrane	voltage-gated potassium channel activity			ovary(1)	1	Breast(11;2.86e-06)					CATGTAGGAGTTGTCATCACG	0.562													A	74168442	T	A	74168442	3	1	62	1	0	0	0	0	1	0	0	0	8024	1725	60	5	148	5	KCNE3	11	74168442	Missense_Mutation	SNP	T	TCGA-BR-8077-01A-11D-2340-08	7529133	74168442	60838074	69	44667											
PCF11	51585	broad.mit.edu	37	chr11	82879823	82879823	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaaggtcagctaggaggtGggtgtcctttgagatttgaa	14	6	1	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr11:82879823G>T	uc001ozx.3	+	8	2791	c.2446G>T	c.(2446-2448)GGG>TGG	p.G816W	PCF11_uc010rsu.1_Missense_Mutation_p.G947W	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	816	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						GCTAGGAGGTGGGTGTCCTTT	0.562													T	82879823	G	T	82879823	3	4	62	1	0	0	0	0	1	0	0	0	11573	1348	47	5	2476	5	PCF11	11	82879823	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08	8711381	82879823	52126693	70	44668											
KIAA1377	57562	broad.mit.edu	37	chr11	101849101	101849101	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactgttatgagaagaaaaCgaattgctgaaactaagcgg	10	6	0	3			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr11:101849101C>T	uc001pgm.2	+	7	3139	c.2869C>T	c.(2869-2871)CGA>TGA	p.R957*	KIAA1377_uc001pgn.2_Nonsense_Mutation_p.R913*|KIAA1377_uc010run.1_Nonsense_Mutation_p.R758*	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	957							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAGAAGAAAACGAATTGCTGA	0.353													T	101849101	C	T	101849101	4	4	62	1	0	0	0	0	0	1	0	0	8227	528	19	1	2895	1	KIAA1377	11	101849101	Nonsense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	18969278	101849101	33157415	71	44669											
CASP4	837	broad.mit.edu	37	chr11	104819260	104819260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccactgaaagatacatacGtggcgttgaagagcagaaag	12	7	0	5			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr11:104819260G>A	uc001pid.1	-	6	998	c.925C>T	c.(925-927)CAC>TAC	p.H309Y	CASP4_uc001pib.1_Missense_Mutation_p.H253Y|CASP4_uc009yxg.1_Missense_Mutation_p.H218Y	NM_001225	NP_001216	P49662	CASP4_HUMAN	caspase 4 isoform alpha precursor	309					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			lung(2)|ovary(1)|skin(1)	4		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		AGATACATACGTGGCGTTGAA	0.443													A	104819260	G	A	104819260	3	1	62	1	0	0	0	0	1	0	0	0	2673	1159	40	1	220	1	CASP4	11	104819260	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08	2970159	104819260	30187256	72	44670											
TMPRSS13	84000	broad.mit.edu	37	chr11	117780642	117780642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgctatccgaggccagcgCccctcccacgatccgcccgg	10	20	0	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr11:117780642C>T	uc001prs.1	-	8	1081	c.988G>A	c.(988-990)GCG>ACG	p.A330T	TMPRSS13_uc009yzr.1_Missense_Mutation_p.A9T|TMPRSS13_uc001prt.1_Missense_Mutation_p.A9T|TMPRSS13_uc001pru.1_Missense_Mutation_p.A330T	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	325	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			pancreas(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GAGGCCAGCGCCCCTCCCACG	0.617													T	117780642	C	T	117780642	3	4	62	1	0	0	0	0	1	0	0	0	16242	739	26	2	739	2	TMPRSS13	11	117780642	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	12961382	117780642	17225874	73	44671											
C11orf63	79864	broad.mit.edu	37	chr11	122817220	122817220	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	attaaggaaattccattcttCttctgacagccagacggtta	7	9	3	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr11:122817220C>G	uc001pym.2	+	6	1946	c.1649C>G	c.(1648-1650)TCT>TGT	p.S550C		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	550										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TTCCATTCTTCTTCTGACAGC	0.403													G	122817220	C	G	122817220	3	3	62	1	0	0	0	0	1	0	0	0	1654	913	32	5	1731	5	C11orf63	11	122817220	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	5036578	122817220	12189296	74	44672											
TMEM45B	120224	broad.mit.edu	37	chr11	129725628	129725628	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctactaccacgtccaCaaccggcctccgctggacca	6	19	2	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr11:129725628C>T	uc001qfe.1	+	4	472	c.411C>T	c.(409-411)CAC>CAT	p.H137H	TMEM45B_uc001qff.1_Silent_p.H137H	NM_138788	NP_620143	Q96B21	TM45B_HUMAN	transmembrane protein 45B	137						integral to membrane					0	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		ACCACGTCCACAACCGGCCTC	0.552													T	129725628	C	T	129725628	2	4	62	1	0	0	0	0	0	0	0	1	16167	477	17	4		4	TMEM45B	11	129725628	Silent	SNP	C	TCGA-BR-8077-01A-11D-2340-08	6908408	129725628	5280888	75	44673											
OR6C75	390323	broad.mit.edu	37	chr12	55759444	55759444	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgactcttctccaatgctgCagctctcttgcacaaacact	6	14	3	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr12:55759444C>A	uc010spk.1	+	1	550	c.550C>A	c.(550-552)CAG>AAG	p.Q184K		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C,	184	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3						TCCAATGCTGCAGCTCTCTTG	0.408													A	55759444	C	A	55759444	3	1	62	1	0	0	0	0	1	0	0	0	11199	711	25	5	552	5	OR6C75	12	55759444	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08		55759444	78092451	76	44674											
CNOT2	4848	broad.mit.edu	37	chr12	70704765	70704765	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaacatgtactacagccagTcttctatgtttccacatcgg	6	11	2	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr12:70704765T>C	uc001svv.2	+	3	718	c.139T>C	c.(139-141)TCT>CCT	p.S47P	CNOT2_uc009zro.2_Missense_Mutation_p.S47P|CNOT2_uc009zrp.2_Missense_Mutation_p.S27P|CNOT2_uc009zrq.2_Missense_Mutation_p.S47P	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	47					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity				0	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CTACAGCCAGTCTTCTATGTT	0.388													C	70704765	T	C	70704765	3	2	62	1	0	0	0	0	1	0	0	0	3619	1667	58	3	145	3	CNOT2	12	70704765	Missense_Mutation	SNP	T	TCGA-BR-8077-01A-11D-2340-08	14945321	70704765	63147130	77	44675											
MYBPC1	4604	broad.mit.edu	37	chr12	102010978	102010978	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgcttgtactttctacacAgaaccaagtaaagagaagga	8	7	1	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr12:102010978A>C	uc001tii.2	+	3	164	c.62_splice	c.e3-2	p.E21_splice	MYBPC1_uc001tif.1_Splice_Site_p.E21_splice|MYBPC1_uc001tig.2_Splice_Site_p.E21_splice|MYBPC1_uc010svq.1_Intron|MYBPC1_uc001tih.2_Splice_Site_p.E21_splice|MYBPC1_uc001tij.2_Splice_Site_p.E21_splice|MYBPC1_uc010svr.1_Splice_Site_p.E21_splice|MYBPC1_uc010svs.1_Splice_Site_p.E21_splice|MYBPC1_uc010svt.1_Splice_Site_p.E9_splice|MYBPC1_uc010svu.1_Splice_Site_p.E21_splice|MYBPC1_uc001tik.2_Intron	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3						cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						CTTTCTACACAGAACCAAGTA	0.433													C	102010978	A	C	102010978	5	2	62	1	0	0	0	0	0	0	1	0	10011	202	7	5	70	5	MYBPC1	12	102010978	Splice_Site	SNP	A	TCGA-BR-8077-01A-11D-2340-08	31306213	102010978	31840917	78	44676											
SIAH3	283514	broad.mit.edu	37	chr13	46357872	46357872	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgatccaatcagccggCgcggggaggtgcatgtccgt	15	10	1	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr13:46357872C>T	uc001vap.2	-	2	538	c.456G>A	c.(454-456)GCG>GCA	p.A152A		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	seven in absentia homolog 3	152					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			ovary(1)|skin(1)	2						AATCAGCCGGCGCGGGGAGGT	0.612													T	46357872	C	T	46357872	2	4	62	1	0	0	0	0	0	0	0	1	14301	755	27	1		1	SIAH3	13	46357872	Silent	SNP	C	TCGA-BR-8077-01A-11D-2340-08		46357872	68812006	79	44677											
HAUS4	54930	broad.mit.edu	37	chr14	23415837	23415837	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtcaaactcctccccaAggacctcataggagttcagg	9	14	3	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr14:23415837A>G	uc001whp.2	-	9	1020	c.989T>C	c.(988-990)CTT>CCT	p.L330P	HAUS4_uc001who.2_RNA|HAUS4_uc001whq.2_Missense_Mutation_p.L204P|HAUS4_uc001whr.2_Missense_Mutation_p.L330P|HAUS4_uc001whs.2_Missense_Mutation_p.L285P|HAUS4_uc001wht.2_Missense_Mutation_p.L330P|HAUS4_uc001whu.2_Missense_Mutation_p.L285P|HAUS4_uc001whv.2_Missense_Mutation_p.L206P|HAUS4_uc001whw.2_Missense_Mutation_p.L330P|HAUS4_uc001whx.2_Missense_Mutation_p.L285P	NM_017815	NP_060285	Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	330					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				ovary(1)	1						CTCCTCCCCAAGGACCTCATA	0.557													G	23415837	A	G	23415837	3	3	62	1	0	0	0	0	1	0	0	0	6968	72	3	3	106	3	HAUS4	14	23415837	Missense_Mutation	SNP	A	TCGA-BR-8077-01A-11D-2340-08		23415837	83933703	80	44678											
ACIN1	22985	broad.mit.edu	37	chr14	23532239	23532239	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtaatggaaactccggactTctgctggctaatggaacgtc	12	9	1	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr14:23532239T>G	uc001wit.3	-	14	3284	c.2956A>C	c.(2956-2958)AAG>CAG	p.K986Q	ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.K228Q|ACIN1_uc001wiq.3_Missense_Mutation_p.K228Q|ACIN1_uc001wir.3_Missense_Mutation_p.K259Q|ACIN1_uc001wis.3_Missense_Mutation_p.K667Q|ACIN1_uc010akg.2_Missense_Mutation_p.K973Q	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	986					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ACTCCGGACTTCTGCTGGCTA	0.478													G	23532239	T	G	23532239	3	3	62	1	0	0	0	0	1	0	0	0	142	1792	62	5	1093	5	ACIN1	14	23532239	Missense_Mutation	SNP	T	TCGA-BR-8077-01A-11D-2340-08	116402	23532239	83817301	81	44679											
AKAP6	9472	broad.mit.edu	37	chr14	33290766	33290766	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caacctgttatcccttccttGaagcttggagagacaagtaa	8	10	0	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr14:33290766G>A	uc001wrq.2	+	13	3917	c.3747G>A	c.(3745-3747)TTG>TTA	p.L1249L		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1249					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCCCTTCCTTGAAGCTTGGAG	0.438													A	33290766	G	A	33290766	2	1	62	1	0	0	0	0	0	0	0	1	455	1281	45	4		4	AKAP6	14	33290766	Silent	SNP	G	TCGA-BR-8077-01A-11D-2340-08	9758527	33290766	74058774	82	44680											
SGPP1	81537	broad.mit.edu	37	chr14	64194098	64194098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaacttgaccacgggcgGcgaggcgggcctcggccagc	15	16	0	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr14:64194098G>A	uc001xgj.2	-	1	659	c.565C>T	c.(565-567)CCG>TCG	p.P189S		NM_030791	NP_110418	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	189						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		ACCACGGGCGGCGAGGCGGGC	0.632													A	64194098	G	A	64194098	3	1	62	1	0	0	0	0	1	0	0	0	14219	1203	42	2	772	2	SGPP1	14	64194098	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08	30903332	64194098	43155442	83	44681											
SYNE2	23224	broad.mit.edu	37	chr14	64628976	64628976	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagagatcctgcccccAgccctgcaggacataaaggt	11	14	0	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr14:64628976A>C	uc001xgm.2	+	88	16511	c.16281A>C	c.(16279-16281)CCA>CCC	p.P5427P	SYNE2_uc001xgl.2_Silent_p.P5427P|SYNE2_uc010apy.2_Silent_p.P1812P|SYNE2_uc001xgn.2_Silent_p.P389P|SYNE2_uc001xgo.2_RNA|SYNE2_uc001xgp.2_Silent_p.P156P|SYNE2_uc010aqa.2_5'UTR	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5427	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCCTGCCCCCAGCCCTGCAGG	0.547													C	64628976	A	C	64628976	2	2	62	1	0	0	0	0	0	0	0	1	15443	175	7	5		5	SYNE2	14	64628976	Silent	SNP	A	TCGA-BR-8077-01A-11D-2340-08	434878	64628976	42720564	84	44682											
KCNK13	56659	broad.mit.edu	37	chr14	90651236	90651236	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactgtctgagatggccaaCggctgcccccaccagaccag	10	16	1	2	rs112153420	byFrequency	TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr14:90651236C>T	uc001xye.1	+	2	1558	c.1116C>T	c.(1114-1116)AAC>AAT	p.N372N		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	372	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				AGATGGCCAACGGCTGCCCCC	0.597													T	90651236	C	T	90651236	2	4	62	1	0	0	0	0	0	0	0	1	8061	535	19	1		1	KCNK13	14	90651236	Silent	SNP	C	TCGA-BR-8077-01A-11D-2340-08	26022260	90651236	16698304	85	44683											
FBLN5	10516	broad.mit.edu	37	chr14	92343836	92343836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccactccctcttacccgcaTgtaaaattctctgccctcat	3	18	3	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr14:92343836T>C	uc001xzx.3	-	10	1653	c.1180A>G	c.(1180-1182)ATG>GTG	p.M394V	FBLN5_uc010aud.2_Missense_Mutation_p.M399V|FBLN5_uc010aue.2_Missense_Mutation_p.M435V|FBLN5_uc001xzw.2_5'Flank	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	fibulin 5 precursor	394					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		all_cancers(154;0.0722)				CTTACCCGCATGTAAAATTCT	0.537													C	92343836	T	C	92343836	3	2	62	1	0	0	0	0	1	0	0	0	5700	1464	51	3	174	3	FBLN5	14	92343836	Missense_Mutation	SNP	T	TCGA-BR-8077-01A-11D-2340-08	1692600	92343836	15005704	86	44684											
SERPINA5	5104	broad.mit.edu	37	chr14	95056501	95056501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatcactacctcctggaccGgaacctctcctgcagggtgg	11	14	2	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr14:95056501G>A	uc001ydm.2	+	4	953	c.743G>A	c.(742-744)CGG>CAG	p.R248Q	SERPINA5_uc010ave.2_Missense_Mutation_p.R248Q|SERPINA3_uc001ydo.3_5'Flank	NM_000624	NP_000615	P05154	IPSP_HUMAN	serine (or cysteine) proteinase inhibitor, clade	248					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(2)	2				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTCCTGGACCGGAACCTCTCC	0.577													A	95056501	G	A	95056501	3	1	62	1	0	0	0	0	1	0	0	0	14092	1116	39	1	749	1	SERPINA5	14	95056501	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08	2712665	95056501	12293039	87	44685											
MKRN3	7681	broad.mit.edu	37	chr15	23811198	23811198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccagtccgttgccaagccGaagcagcggcatttggacaa	12	13	0	0	rs140349866		TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr15:23811198G>A	uc001ywh.3	+	1	745	c.269G>A	c.(268-270)CGA>CAA	p.R90Q	MKRN3_uc001ywi.2_Missense_Mutation_p.R90Q|MKRN3_uc010ayi.1_Missense_Mutation_p.R90Q	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	90						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TTGCCAAGCCGAAGCAGCGGC	0.602													A	23811198	G	A	23811198	3	1	62	1	0	0	0	0	1	0	0	0	9608	1058	37	1	271	1	MKRN3	15	23811198	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08		23811198	78720194	88	44686											
MKRN3	7681	broad.mit.edu	37	chr15	23811962	23811962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctgtattaggtgtatcCgcaggtggagaagtgccaga	13	8	1	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr15:23811962C>T	uc001ywh.3	+	1	1509	c.1033C>T	c.(1033-1035)CGC>TGC	p.R345C	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.R345C	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	345	RING-type.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TAGGTGTATCCGCAGGTGGAG	0.507													T	23811962	C	T	23811962	3	4	62	1	0	0	0	0	1	0	0	0	9608	652	23	1	1035	1	MKRN3	15	23811962	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	764	23811962	78719430	89	44687											
GJD2	57369	broad.mit.edu	37	chr15	35045438	35045438	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgggagatggggaaggcGcggtcatagcaggcctggtt	19	6	1	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr15:35045438G>A	uc001zis.1	-	2	207	c.207C>T	c.(205-207)CGC>CGT	p.R69R	uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	69	Extracellular (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TGGGGAAGGCGCGGTCATAGC	0.552													A	35045438	G	A	35045438	2	1	62	1	0	0	0	0	0	0	0	1	6417	1074	38	1		1	GJD2	15	35045438	Silent	SNP	G	TCGA-BR-8077-01A-11D-2340-08	11233476	35045438	67485954	90	44688											
DNAJC17	55192	broad.mit.edu	37	chr15	41067260	41067260	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gccgtaggaggacgtctttgGagtagccaccttttgactca	12	10	2	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr15:41067260G>C	uc001zms.1	-	8	580	c.569C>G	c.(568-570)TCC>TGC	p.S190C	DNAJC17_uc010bbz.1_RNA|DNAJC17_uc010bca.1_RNA|DNAJC17_uc010bcb.1_RNA	NM_018163	NP_060633	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	190	RRM.				protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding				0		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GACGTCTTTGGAGTAGCCACC	0.502													C	41067260	G	C	41067260	3	2	62	1	0	0	0	0	1	0	0	0	4636	1174	41	5	361	5	DNAJC17	15	41067260	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08	6021822	41067260	61464132	91	44689											
KIAA1199	57214	broad.mit.edu	37	chr15	81230194	81230194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccacattctccatcctctCggatgttcacaatcgcctgc	5	17	3	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr15:81230194C>T	uc002bfw.1	+	24	3541	c.3281C>T	c.(3280-3282)TCG>TTG	p.S1094L	KIAA1199_uc010unn.1_Missense_Mutation_p.S1094L	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	1094										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						TCCATCCTCTCGGATGTTCAC	0.577													T	81230194	C	T	81230194	3	4	62	1	0	0	0	0	1	0	0	0	8213	893	31	1	3371	1	KIAA1199	15	81230194	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	40162934	81230194	21301198	92	44690											
IQGAP1	8826	broad.mit.edu	37	chr15	91037964	91037964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtctccaaaaagcctaggGaaatgaaaggaaagaaaagc	11	6	1	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr15:91037964G>A	uc002bpl.1	+	36	4749	c.4648G>A	c.(4648-4650)GAA>AAA	p.E1550K	IQGAP1_uc010uqg.1_Missense_Mutation_p.E171K	NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1550	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAAGCCTAGGGAAATGAAAGG	0.358													A	91037964	G	A	91037964	3	1	62	1	0	0	0	0	1	0	0	0	7814	1175	41	4	4790	4	IQGAP1	15	91037964	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08	9807770	91037964	11493428	93	44691											
ST8SIA2	8128	broad.mit.edu	37	chr15	93007503	93007503	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacagcctcaagtatggctAcacctcccaggccagcccgc	9	17	1	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr15:93007503A>G	uc002bra.2	+	6	1171	c.1016A>G	c.(1015-1017)TAC>TGC	p.Y339C	ST8SIA2_uc002brb.2_Missense_Mutation_p.Y318C	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide	339	Lumenal (Potential).				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity				0	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			AAGTATGGCTACACCTCCCAG	0.532													G	93007503	A	G	93007503	3	3	62	1	0	0	0	0	1	0	0	0	15231	391	14	3	1038	3	ST8SIA2	15	93007503	Missense_Mutation	SNP	A	TCGA-BR-8077-01A-11D-2340-08	1969539	93007503	9523889	94	44692											
MSLNL	401827	broad.mit.edu	37	chr16	820288	820288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacgttgccaacatccagGctctgcggagaggggtgggg	17	10	2	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr16:820288G>A	uc002cjz.1	-	15	2697	c.2697C>T	c.(2695-2697)AGC>AGT	p.S899S		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	548	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4						CAACATCCAGGCTCTGCGGAG	0.692													A	820288	G	A	820288	2	1	62	1	0	0	0	0	0	0	0	1	9882	1194	42	2		2	MSLNL	16	820288	Silent	SNP	G	TCGA-BR-8077-01A-11D-2340-08		820288	89534465	95	44693											
ABCC6	368	broad.mit.edu	37	chr16	16255323	16255325	+	Missense_Mutation	TNP	ACG	ACG	CGA													cagcagagacagagaagcccAcgaggccagcactgaggtgg							TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr16:16255323_16255325ACG>CGA	uc002den.3	-	25	3640_3642	c.3603_3605CGT>TCG	c.(3601-3606)CTCGTG>CTTCGG	p.V1202R	ABCC6_uc010bvo.2_RNA	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	1202	ABC transmembrane type-1 2.|Helical; Name=17; (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		AGAGAAGCCCACGAGGCCAGCAC	0.626													CGA	16255325	ACG	CGA	16255323	3	2	62	1	0	0	0	0	1	0	0	0	57	159	6	5	934	5	ABCC6	16	16255323	Missense_Mutation	TNP	ACG	TCGA-BR-8077-01A-11D-2340-08	15435035	16255323	74099430	96	44694											
RBBP6	5930	broad.mit.edu	37	chr16	24581590	24581590	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatactgaaaaaatggatagGacccctgaaaaggacaaaat	9	6	0	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr16:24581590G>A	uc002dmh.2	+	17	4619	c.3579G>A	c.(3577-3579)AGG>AGA	p.R1193R	RBBP6_uc010vcb.1_Silent_p.R1060R|RBBP6_uc002dmi.2_Silent_p.R1159R|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Silent_p.R1026R	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1193					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		AAATGGATAGGACCCCTGAAA	0.358													A	24581590	G	A	24581590	2	1	62	1	0	0	0	0	0	0	0	1	13103	1165	41	4		4	RBBP6	16	24581590	Silent	SNP	G	TCGA-BR-8077-01A-11D-2340-08	8326267	24581590	65773163	97	44695											
KLHL36	79786	broad.mit.edu	37	chr16	84693458	84693458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccggaatgagaacggagcGctctcttcagtagagacgta	14	9	2	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr16:84693458G>A	uc002fig.2	+	4	1371	c.1230G>A	c.(1228-1230)GCG>GCA	p.A410A	KLHL36_uc010chl.2_Intron	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	kelch-like 36	410	Kelch 3.									skin(2)	2						AGAACGGAGCGCTCTCTTCAG	0.582													A	84693458	G	A	84693458	2	1	62	1	0	0	0	0	0	0	0	1	8389	1074	38	1		1	KLHL36	16	84693458	Silent	SNP	G	TCGA-BR-8077-01A-11D-2340-08	60111868	84693458	5661295	98	44696											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	9	16	3	0	rs28934574		TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr17:7577094G>A	uc002gim.2	-	8	1038	c.844C>T	c.(844-846)CGG>TGG	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	282	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7577094	G	A	7577094	3	1	62	1	0	0	0	0	1	0	0	0	16378	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08		7577094	73618116	99	44697											
MYH10	4628	broad.mit.edu	37	chr17	8398465	8398466	+	In_Frame_Ins	INS	-	-	GTA													agggaatacctgtgtatcctINSgtagttgagactcaagacta							TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr17:8398465_8398466insGTA	uc002gll.2	-	29	4048_4049	c.3952_3953insTAC	c.(3952-3954)CAG>CTACAG	p.1317_1318insL	MYH10_uc002glm.2_In_Frame_Ins_p.1348_1349insL|MYH10_uc010cnx.2_In_Frame_Ins_p.1326_1327insL	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1317_1318	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						CTGTGTATCCTGTAGTTGAGAC	0.416													GTA	8398466	-	GTA	8398465	7	5	62	1	0	1	1	0	0	0	0	0	10030	1580	55	0	2029	0	MYH10	17	8398465	In_Frame_Ins	INS	-	TCGA-BR-8077-01A-11D-2340-08	821371	8398465	72796745	100	44698	158	2									
MYH10	4628	broad.mit.edu	37	chr17	8398466	8398467	+	In_Frame_Ins	INS	-	-	GTA													gggaatacctgtgtatcctgINStagttgagactcaagactag							TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr17:8398465_8398466T>TGTA	uc002glm.3	-	30	4141_4142	c.4045_4046A>TACA	c.(4045-4047)cag>TACAg	p.Q1349Y	MYH10_uc002gll.3_In_Frame_Ins_p.Q1318Y|MYH10_uc010cnx.3_In_Frame_Ins_p.Q1327Y	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1318					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTGTGTATCCTGTAGTTGAGAC	0.416													GTA	8398467	-	GTA	8398466	7	5	62	1	0	1	1	0	0	0	0	0	10030	1386	48	0	2030	0	MYH10	17	8398466	In_Frame_Ins	INS	-	TCGA-BR-8077-01A-11D-2340-08	1	8398466	72796744	101	44699	158	2									
EFCAB5	374786	broad.mit.edu	37	chr17	28417544	28417544	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagagaacaggagaggctctGggagtcctcgattttaacat	13	7	1	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr17:28417544G>T	uc002het.2	+	20	3981	c.3789G>T	c.(3787-3789)CTG>CTT	p.L1263L	EFCAB5_uc010cse.2_Silent_p.L1018L|EFCAB5_uc010csf.2_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	1263							calcium ion binding			ovary(1)|skin(1)	2						GAGAGGCTCTGGGAGTCCTCG	0.428													T	28417544	G	T	28417544	2	4	62	1	0	0	0	0	0	0	0	1	4938	1335	47	5		5	EFCAB5	17	28417544	Silent	SNP	G	TCGA-BR-8077-01A-11D-2340-08	20019078	28417544	52777666	102	44700											
KRTAP9-9	81870	broad.mit.edu	37	chr17	39411934	39411934	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaaccagctgtgggtccagCtgtggccagagcagctcctg	13	13	0	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr17:39411934C>A	uc010wfq.1	+	3	254	c.252C>A	c.(250-252)AGC>AGA	p.S84R		NM_030975	NP_112237	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	99						keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GTGGGTCCAGCTGTGGCCAGA	0.612													A	39411934	C	A	39411934	3	1	62	1	0	0	0	0	1	0	0	0	8577	796	28	5	299	5	KRTAP9-9	17	39411934	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	10994390	39411934	41783276	103	44701											
IGF2BP1	10642	broad.mit.edu	37	chr17	47076502	47076502	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttacaaggaaaacgcttagaGattgaacattcggtgcccaa	9	8	0	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr17:47076502G>C	uc002iom.2	+	2	541	c.207G>C	c.(205-207)GAG>GAC	p.E69D	IGF2BP1_uc010dbj.2_Missense_Mutation_p.E69D	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	69	RRM 1.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						AACGCTTAGAGATTGAACATT	0.493													C	47076502	G	C	47076502	3	2	62	1	0	0	0	0	1	0	0	0	7573	933	33	5	213	5	IGF2BP1	17	47076502	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08	7664568	47076502	34118708	104	44702											
RNFT1	51136	broad.mit.edu	37	chr17	58040311	58040311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgatctccagattctgCggcagtatcatcagtcagcc	8	13	5	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr17:58040311C>T	uc002iya.2	-	2	484	c.391G>A	c.(391-393)GCA>ACA	p.A131T	uc002iye.1_5'Flank|RNFT1_uc002iyb.2_RNA|RNFT1_uc002iyc.2_5'UTR|RNFT1_uc010wop.1_Missense_Mutation_p.A131T|RNFT1_uc002iyd.3_Missense_Mutation_p.A131T	NM_016125	NP_057209	Q5M7Z0	RNFT1_HUMAN	PTD016 protein	131						integral to membrane	zinc ion binding				0	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			CCAGATTCTGCGGCAGTATCA	0.463													T	58040311	C	T	58040311	3	4	62	1	0	0	0	0	1	0	0	0	13501	768	27	1	948	1	RNFT1	17	58040311	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	10963809	58040311	23154899	105	44703											
AATK	9625	broad.mit.edu	37	chr17	79095615	79095615	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgctttggactggggcaGccctcagcgtggccgcccgc	15	15	2	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr17:79095615G>A	uc010dia.2	-	11	2201	c.2121C>T	c.(2119-2121)GGC>GGT	p.G707G	AATK_uc010dhz.2_RNA	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	707						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GACTGGGGCAGCCCTCAGCGT	0.706													A	79095615	G	A	79095615	2	1	62	1	0	0	0	0	0	0	0	1	26	958	34	2		2	AATK	17	79095615	Silent	SNP	G	TCGA-BR-8077-01A-11D-2340-08	21055304	79095615	2099595	106	44704											
GRP	2922	broad.mit.edu	37	chr18	56892756	56892758	+	In_Frame_Del	DEL	TCT	TCT	-													ggaaaaagagcacaggggagTcttcttctgtttctgagaga							TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr18:56892755_56892757GTCT>G	uc002lhv.3	+	1	269_271	c.171_173GTCT>G	c.(169-174)gagtct>gaGt	p.S60del	GRP_uc002lhu.3_In_Frame_Del_p.S60del|GRP_uc002lhw.3_In_Frame_Del_p.S60del	NM_002091	NP_002082	P07492	GRP_HUMAN	Homo sapiens gastrin-releasing peptide (GRP), transcript variant 1, mRNA.	60					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				GCACAGGGGAGTCTTCTTCTGTT	0.429													-	56892758	TCT	-	56892756	7	5	62	1	0	1	0	1	0	0	0	0	6805	1667	58	0	178	0	GRP	18	56892756	In_Frame_Del	DEL	TCT	TCGA-BR-8077-01A-11D-2340-08		56892756	21184492	107	44705											
CD97	976	broad.mit.edu	37	chr19	14517256	14517256	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tttcttgtggtgcgcgtgttCcaaggccagggcctgagtac	14	10	1	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr19:14517256C>G	uc002myl.2	+	15	2058	c.1935C>G	c.(1933-1935)TTC>TTG	p.F645L	CD97_uc002mym.2_Missense_Mutation_p.F596L|CD97_uc002myn.2_Missense_Mutation_p.F552L	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	645	Cytoplasmic (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)|breast(1)	4						TGCGCGTGTTCCAAGGCCAGG	0.647											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	14517256	C	G	14517256	3	3	62	1	0	0	0	0	1	0	0	0	3049	854	30	5	1993	5	CD97	19	14517256	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08		14517256	44611727	108	44706											
ZNF536	9745	broad.mit.edu	37	chr19	30935864	30935864	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccatgaaggagaaggaagcGctggggaagctgctgtctcc	15	10	1	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr19:30935864G>C	uc002nsu.1	+	2	1533	c.1395G>C	c.(1393-1395)GCG>GCC	p.A465A	ZNF536_uc010edd.1_Silent_p.A465A	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					AGAAGGAAGCGCTGGGGAAGC	0.657													C	30935864	G	C	30935864	2	2	62	1	0	0	0	0	0	0	0	1	17971	1074	38	5		5	ZNF536	19	30935864	Silent	SNP	G	TCGA-BR-8077-01A-11D-2340-08	16418608	30935864	28193119	109	44707											
CYP2F1	1572	broad.mit.edu	37	chr19	41627980	41627980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtccacgaccaccaggcctCgctagaccccagatctcccc	7	21	1	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr19:41627980C>T	uc002opu.1	+	6	820	c.764C>T	c.(763-765)TCG>TTG	p.S255L	CYP2F1_uc010xvw.1_Missense_Mutation_p.S41L|CYP2F1_uc010xvv.1_Missense_Mutation_p.S255L|CYP2F1_uc002opv.1_RNA	NM_000774	NP_000765	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F,	255					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0						CACCAGGCCTCGCTAGACCCC	0.587													T	41627980	C	T	41627980	3	4	62	1	0	0	0	0	1	0	0	0	4171	893	31	1	782	1	CYP2F1	19	41627980	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	10692116	41627980	17501003	110	44708											
GPR32	2854	broad.mit.edu	37	chr19	51273919	51273919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacctggggtcctgacacGtgatcgctcttgttccagga	12	12	1	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr19:51273919G>A	uc010ycf.1	+	1	62	c.62G>A	c.(61-63)CGT>CAT	p.R21H		NM_001506	NP_001497	O75388	GPR32_HUMAN	G protein-coupled receptor 32	21	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GTCCTGACACGTGATCGCTCT	0.522													A	51273919	G	A	51273919	3	1	62	1	0	0	0	0	1	0	0	0	6688	1145	40	1	64	1	GPR32	19	51273919	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08	9645939	51273919	7855064	111	44709											
VN1R2	317701	broad.mit.edu	37	chr19	53762763	53762763	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagatccaggctctgcAgtatctgctgcagaagaaat	10	11	2	3			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr19:53762763A>C	uc002qbi.2	+	1	1219	c.1135A>C	c.(1135-1137)AGT>CGT	p.S379R		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	379	Cytoplasmic (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0				GBM - Glioblastoma multiforme(134;0.00301)		CAGGCTCTGCAGTATCTGCTG	0.458													C	53762763	A	C	53762763	3	2	62	1	0	0	0	0	1	0	0	0	17176	188	7	5	1137	5	VN1R2	19	53762763	Missense_Mutation	SNP	A	TCGA-BR-8077-01A-11D-2340-08	2488844	53762763	5366220	112	44710											
TNNT1	7138	broad.mit.edu	37	chr19	55645256	55645256	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagacggtcacactcacaActtctgggcgtggctgatgc	12	11	3	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr19:55645256A>C	uc002qjb.3	-	13	879	c.790T>G	c.(790-792)TTC>GTC	p.F264V	TNNT1_uc002qiz.3_Missense_Mutation_p.F178V|TNNT1_uc002qja.3_Missense_Mutation_p.F178V|TNNT1_uc002qjc.3_Missense_Mutation_p.F248V|TNNT1_uc002qje.3_Missense_Mutation_p.F237V|TNNT1_uc002qjd.3_Missense_Mutation_p.F237V	NM_003283	NP_003274	P13805	TNNT1_HUMAN	troponin T1, skeletal, slow isoform a	264					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CACACTCACAACTTCTGGGCG	0.632													C	55645256	A	C	55645256	3	2	62	1	0	0	0	0	1	0	0	0	16327	57	2	5	54	5	TNNT1	19	55645256	Missense_Mutation	SNP	A	TCGA-BR-8077-01A-11D-2340-08	1882493	55645256	3483727	113	44711											
PEG3	5178	broad.mit.edu	37	chr19	57326272	57326272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcatggattctctgatgctCgaaaaggaatgagctatgaa	10	6	2	3			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr19:57326272C>T	uc002qnu.2	-	7	3889	c.3538G>A	c.(3538-3540)GAG>AAG	p.E1180K	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E1151K|PEG3_uc002qnv.2_Missense_Mutation_p.E1180K|PEG3_uc002qnw.2_Missense_Mutation_p.E1056K|PEG3_uc002qnx.2_Missense_Mutation_p.E1054K|PEG3_uc010etr.2_Missense_Mutation_p.E1180K	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1180	C2H2-type 7.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTCTGATGCTCGAAAAGGAAT	0.458													T	57326272	C	T	57326272	3	4	62	1	0	0	0	0	1	0	0	0	11720	893	31	1	1232	1	PEG3	19	57326272	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	1681016	57326272	1802711	114	44712											
ZSCAN18	65982	broad.mit.edu	37	chr19	58600101	58600102	+	Frame_Shift_Ins	INS	-	-	G													cagctccaagggcctggctgINSgggctcgcgagctcgcctgg							TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr19:58600100_58600101T>TG	uc010yht.1	-	2	705_706	c.675_676A>CA	c.(673-678)cccagcfs	p.P225fs	ZSCAN18_uc002qrj.3_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc010yhs.1_Frame_Shift_Ins_p.P34fs|ZSCAN18_uc002qrh.2_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc002qri.2_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc002qrk.1_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc002qrl.2_Frame_Shift_Ins_p.P169fs	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	169					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGGGCCTGGCTGGGGCTCGCGA	0.649													G	58600102	-	G	58600101	7	5	62	1	0	1	1	0	0	0	0	0	18227	1335	47	0	1045	0	ZSCAN18	19	58600101	Frame_Shift_Ins	INS	-	TCGA-BR-8077-01A-11D-2340-08	1273829	58600101	528882	115	44713											
SIRPD	128646	broad.mit.edu	37	chr20	1517875	1517875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtttctctcaggcagggccGagaggcaggtatgggcatca	15	9	3	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr20:1517875G>A	uc002wfi.2	-	3	547	c.503C>T	c.(502-504)TCG>TTG	p.S168L		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	signal-regulatory protein delta precursor	168						extracellular region				ovary(1)|kidney(1)|skin(1)	3						AGGCAGGGCCGAGAGGCAGGT	0.597													A	1517875	G	A	1517875	3	1	62	1	0	0	0	0	1	0	0	0	14335	1059	37	1	98	1	SIRPD	20	1517875	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08		1517875	61507645	116	44714											
PTPN1	5770	broad.mit.edu	37	chr20	49197803	49197803	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctctgattcctcagcAtgagtcaagacactgaagtt	8	12	3	4			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr20:49197803A>G	uc002xvl.2	+	9	1264	c.1090A>G	c.(1090-1092)ATG>GTG	p.M364V	PTPN1_uc010zys.1_Missense_Mutation_p.M291V	NM_002827	NP_002818	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type	364					blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding				0		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	ATTCCTCAGCATGAGTCAAGA	0.532													G	49197803	A	G	49197803	3	3	62	1	0	0	0	0	1	0	0	0	12779	231	8	3	1124	3	PTPN1	20	49197803	Missense_Mutation	SNP	A	TCGA-BR-8077-01A-11D-2340-08	47679928	49197803	13827717	117	44715											
DIDO1	11083	broad.mit.edu	37	chr20	61542508	61542508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggccatcgctgtcactatCggaggtgtcatcgtggtcat	12	11	3	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr20:61542508C>T	uc002ydr.1	-	3	721	c.457G>A	c.(457-459)GAT>AAT	p.D153N	DIDO1_uc002yds.1_Missense_Mutation_p.D153N|DIDO1_uc002ydt.1_Missense_Mutation_p.D153N|DIDO1_uc002ydu.1_Missense_Mutation_p.D153N|DIDO1_uc002ydv.1_Missense_Mutation_p.D153N|DIDO1_uc002ydw.1_Missense_Mutation_p.D153N|DIDO1_uc002ydx.1_Missense_Mutation_p.D153N|DIDO1_uc011aao.1_Missense_Mutation_p.D153N	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	153					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CTGTCACTATCGGAGGTGTCA	0.572													T	61542508	C	T	61542508	3	4	62	1	0	0	0	0	1	0	0	0	4522	884	31	1	6451	1	DIDO1	20	61542508	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	12344705	61542508	1483012	118	44716											
KCNQ2	3785	broad.mit.edu	37	chr20	62046361	62046361	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	caccttgctggggctgtcctCgaggctctggtcggcgctgg	16	13	1	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr20:62046361C>G	uc002yey.1	-	13	1597	c.1420G>C	c.(1420-1422)GAG>CAG	p.E474Q	KCNQ2_uc002yez.1_Missense_Mutation_p.E444Q|KCNQ2_uc002yfa.1_Missense_Mutation_p.E456Q|KCNQ2_uc002yfb.1_Missense_Mutation_p.E446Q	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	474	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GGGCTGTCCTCGAGGCTCTGG	0.692													G	62046361	C	G	62046361	3	3	62	1	0	0	0	0	1	0	0	0	8083	893	31	5	1218	5	KCNQ2	20	62046361	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	503853	62046361	979159	119	44717											
NCAM2	4685	broad.mit.edu	37	chr21	22656515	22656515	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttccatggctctttgcagcGattggtgaacctgaaagtat	10	8	1	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr21:22656515G>T	uc002yld.1	+	3	381	c.132G>T	c.(130-132)GCG>GCT	p.A44A	NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Silent_p.A69A	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	44	Ig-like C2-type 1.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TCTTTGCAGCGATTGGTGAAC	0.328													T	22656515	G	T	22656515	2	4	62	1	0	0	0	0	0	0	0	1	10203	1072	37	5		5	NCAM2	21	22656515	Silent	SNP	G	TCGA-BR-8077-01A-11D-2340-08		22656515	25473380	120	44718											
CSF2RB	1439	broad.mit.edu	37	chr22	37328890	37328890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaacaatgaaaatgcgatacGaacacatagaccacacattt	5	9	0	2	rs146404001	by1000genomes	TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr22:37328890G>A	uc003aqa.3	+	9	1313	c.1096G>A	c.(1096-1098)GAA>AAA	p.E366K	CSF2RB_uc003aqc.3_Missense_Mutation_p.E372K	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	366	Extracellular (Potential).|Fibronectin type-III 2.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	AATGCGATACGAACACATAGA	0.567													A	37328890	G	A	37328890	3	1	62	1	0	0	0	0	1	0	0	0	3935	1059	37	1	1126	1	CSF2RB	22	37328890	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08		37328890	13975676	121	44719											
ADSL	158	broad.mit.edu	37	chr22	40754925	40754925	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttggattcaggatctttgCatggatctccagaacttgaa	9	8	3	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr22:40754925C>T	uc003ayp.3	+	5	599	c.540C>T	c.(538-540)TGC>TGT	p.C180C	ADSL_uc003ays.3_Silent_p.C180C|ADSL_uc003ayq.3_Silent_p.C180C|ADSL_uc003ayr.3_5'UTR|ADSL_uc003ayt.3_Silent_p.C165C|ADSL_uc010gyb.1_RNA	NM_000026	NP_000017	P30566	PUR8_HUMAN	adenylosuccinate lyase isoform a	180					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			ovary(1)	1						AGGATCTTTGCATGGATCTCC	0.532													T	40754925	C	T	40754925	2	4	62	1	0	0	0	0	0	0	0	1	346	718	25	2		2	ADSL	22	40754925	Silent	SNP	C	TCGA-BR-8077-01A-11D-2340-08	3426035	40754925	10549641	122	44720											
PLXNB2	23654	broad.mit.edu	37	chr22	50717049	50717049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtgcataagggtgttgacGcgcttccaccggccctcccg	12	14	0	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chr22:50717049G>A	uc003bkv.3	-	29	4729	c.4623C>T	c.(4621-4623)CGC>CGT	p.R1541R	PLXNB2_uc003bkt.1_Silent_p.R333R|PLXNB2_uc003bku.1_Silent_p.R526R	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1541	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGTGTTGACGCGCTTCCACC	0.667													A	50717049	G	A	50717049	2	1	62	1	0	0	0	0	0	0	0	1	12124	1074	38	1		1	PLXNB2	22	50717049	Silent	SNP	G	TCGA-BR-8077-01A-11D-2340-08	9962124	50717049	587517	123	44721											
USP11	8237	broad.mit.edu	37	chrX	47092439	47092439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtagaagagaacggacGgcgatggcgacggtcgcagc	18	9	0	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chrX:47092439G>A	uc004dhp.2	+	1	126	c.126G>A	c.(124-126)ACG>ACA	p.T42T		NM_004651	NP_004642	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	42					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)|lung(1)|central_nervous_system(1)	3						GAGAACGgacggcgatggcga	0.383													A	47092439	G	A	47092439	2	1	62	1	0	0	0	0	0	0	0	1	17039	1103	39	1		1	USP11	23	47092439	Silent	SNP	G	TCGA-BR-8077-01A-11D-2340-08		47092439	108178121	124	44722											
AR	367	broad.mit.edu	37	chrX	66765885	66765885	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctctgctagacgacagcgcAggcaagagcactgaagatac	11	11	1	4			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chrX:66765885A>T	uc004dwu.1	+	1	2012	c.897A>T	c.(895-897)GCA>GCT	p.A299A	AR_uc011mpd.1_Silent_p.A299A|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.A299A	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	297	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	ACGACAGCGCAGGCAAGAGCA	0.567									Androgen_Insensitivity_Syndrome				T	66765885	A	T	66765885	2	4	62	1	0	0	0	0	0	0	0	1	836	175	7	5		5	AR	23	66765885	Silent	SNP	A	TCGA-BR-8077-01A-11D-2340-08	19673446	66765885	88504675	125	44723											
NAP1L2	4674	broad.mit.edu	37	chrX	72432992	72432992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaaggtttttgcaacaaGctttaacttcctcaattgca	5	11	2	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chrX:72432992G>A	uc004ebi.2	-	1	1693	c.1337C>T	c.(1336-1338)GCT>GTT	p.A446V	NAP1L2_uc011mqj.1_Missense_Mutation_p.A304V	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	446					nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)					TTTGCAACAAGCTTTAACTTC	0.378													A	72432992	G	A	72432992	3	1	62	1	0	0	0	0	1	0	0	0	10157	971	34	2	49	2	NAP1L2	23	72432992	Missense_Mutation	SNP	G	TCGA-BR-8077-01A-11D-2340-08	5667107	72432992	82837568	126	44724											
CDX4	1046	broad.mit.edu	37	chrX	72667379	72667379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtacaatgggcacagtgcCggtgaacgacgtgacctcta	12	10	1	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chrX:72667379C>T	uc011mqk.1	+	1	290	c.290C>T	c.(289-291)CCG>CTG	p.P97L		NM_005193	NP_005184	O14627	CDX4_HUMAN	caudal type homeobox 4	97						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(35;0.156)					GGCACAGTGCCGGTGAACGAC	0.642													T	72667379	C	T	72667379	3	4	62	1	0	0	0	0	1	0	0	0	3184	652	23	1	292	1	CDX4	23	72667379	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	234387	72667379	82603181	127	44725											
CYSLTR1	10800	broad.mit.edu	37	chrX	77529219	77529219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcatgtggcagaagataCtgtcagatttcctgtttcat	10	7	2	3			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chrX:77529219C>T	uc004edb.2	-	3	425	c.25G>A	c.(25-27)GTA>ATA	p.V9I	CYSLTR1_uc010nma.2_Missense_Mutation_p.V9I|CYSLTR1_uc010nmb.2_Missense_Mutation_p.V9I	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	9	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			ovary(1)	1					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	GCAGAAGATACTGTCAGATTT	0.363													T	77529219	C	T	77529219	3	4	62	1	0	0	0	0	1	0	0	0	4201	565	20	4	992	4	CYSLTR1	23	77529219	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	4861840	77529219	77741341	128	44726											
COL4A6	1288	broad.mit.edu	37	chrX	107412759	107412759	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgccctctcaggcccggcttCcctggagctccgatgccaat	10	17	1	0			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chrX:107412759C>A	uc004enw.3	-	37	3763	c.3660G>T	c.(3658-3660)GGG>GGT	p.G1220G	COL4A6_uc004env.3_Silent_p.G1219G|COL4A6_uc011msn.1_Silent_p.G1195G|COL4A6_uc010npk.2_Silent_p.G1195G	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	1220	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						GGCCCGGCTTCCCTGGAGCTC	0.572									Alport_syndrome_with_Diffuse_Leiomyomatosis				A	107412759	C	A	107412759	2	1	62	1	0	0	0	0	0	0	0	1	3695	842	30	5		5	COL4A6	23	107412759	Silent	SNP	C	TCGA-BR-8077-01A-11D-2340-08	29883540	107412759	47857801	129	44727											
HTR2C	3358	broad.mit.edu	37	chrX	114141785	114141785	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtagagaaaaagcctcctgTcaggcagattccaagagttg	12	8	1	3	rs151266355		TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chrX:114141785T>A	uc004epu.1	+	6	1912	c.1184T>A	c.(1183-1185)GTC>GAC	p.V395D	HTR2C_uc010nqc.1_Missense_Mutation_p.V395D|HTR2C_uc004epv.1_3'UTR	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	395	Cytoplasmic (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	AAGCCTCCTGTCAGGCAGATT	0.443													A	114141785	T	A	114141785	3	1	62	1	0	0	0	0	1	0	0	0	7443	1667	58	5	1198	5	HTR2C	23	114141785	Missense_Mutation	SNP	T	TCGA-BR-8077-01A-11D-2340-08	6729026	114141785	41128775	130	44728											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299259	125299259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccatccgccacagagccaCggtgccgtcgcgggagccgc	14	17	0	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chrX:125299259C>T	uc004euk.1	-	1	676	c.649G>A	c.(649-651)GTG>ATG	p.V217M		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	217	WD 2.									lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						CACAGAGCCACGGTGCCGTCG	0.637													T	125299259	C	T	125299259	3	4	62	1	0	0	0	0	1	0	0	0	4265	536	19	1	746	1	DCAF12L2	23	125299259	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	11157474	125299259	29971301	131	44729											
MOSPD1	56180	broad.mit.edu	37	chrX	134025640	134025640	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaggaagacagttagtAaactaggtcctgaggataca	10	9	0	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chrX:134025640A>G	uc004eyb.2	-	5	666	c.479T>C	c.(478-480)TTA>TCA	p.L160S	MOSPD1_uc004eya.2_Intron|MOSPD1_uc010nrv.2_RNA	NM_019556	NP_062456	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1	160	Helical; (Potential).				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(192;0.000127)					GACAGTTAGTAAACTAGGTCC	0.453													G	134025640	A	G	134025640	3	3	62	1	0	0	0	0	1	0	0	0	9715	372	13	3	170	3	MOSPD1	23	134025640	Missense_Mutation	SNP	A	TCGA-BR-8077-01A-11D-2340-08	8726381	134025640	21244920	132	44730											
MAP7D3	79649	broad.mit.edu	37	chrX	135314089	135314089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccacaggcgacacgtccaCgctcaccacagggaatgagt	10	15	1	1			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chrX:135314089C>T	uc004ezt.2	-	8	1118	c.1027G>A	c.(1027-1029)GTG>ATG	p.V343M	MAP7D3_uc004ezs.2_Missense_Mutation_p.V307M|MAP7D3_uc011mwc.1_Missense_Mutation_p.V325M|MAP7D3_uc010nsa.1_Missense_Mutation_p.V301M	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	343						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					GACACGTCCACGCTCACCACA	0.567													T	135314089	C	T	135314089	3	4	62	1	0	0	0	0	1	0	0	0	9269	536	19	1	1647	1	MAP7D3	23	135314089	Missense_Mutation	SNP	C	TCGA-BR-8077-01A-11D-2340-08	1288449	135314089	19956471	133	44731											
MAGEA10	4109	broad.mit.edu	37	chrX	151303170	151303170	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatttcaggagactcatcTtcctaatttcagcatgagcc	6	10	4	2			TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chrX:151303170T>G	uc004ffk.2	-	5	1331	c.923A>C	c.(922-924)AAG>ACG	p.K308T	MAGEA10_uc004ffl.2_Missense_Mutation_p.K308T	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	308	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					GAGACTCATCTTCCTAATTTC	0.507													G	151303170	T	G	151303170	3	3	62	1	0	0	0	0	1	0	0	0	9164	1609	56	5	190	5	MAGEA10	23	151303170	Missense_Mutation	SNP	T	TCGA-BR-8077-01A-11D-2340-08	15989081	151303170	3967390	134	44732											
SLC10A3	8273	broad.mit.edu	37	chrX	153716440	153716440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagatggccagggtgacGtcccctccaagaaggaggct	15	10	0	3	rs151043660		TCGA-BR-8077-01A-11D-2340-08	TCGA-BR-8077-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	141af187-b767-4e25-8b46-dfa8618b1794	4ff305bd-6a6a-4583-a89c-ddab140a042d	g.chrX:153716440G>A	uc004flq.2	-	3	1104	c.840C>T	c.(838-840)GAC>GAT	p.D280D	UBL4A_uc004flo.2_5'Flank|SLC10A3_uc004flr.2_Silent_p.D251D|SLC10A3_uc004flp.2_Silent_p.D280D	NM_001142392	NP_001135864	P09131	P3_HUMAN	solute carrier family 10, member 3 isoform 1	280					organic anion transport	integral to membrane	bile acid:sodium symporter activity	p.D280N(1)		ovary(1)|skin(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGGGTGACGTCCCCTCCAA	0.622													A	153716440	G	A	153716440	2	1	62	1	0	0	0	0	0	0	0	1	14375	1136	40	1		1	SLC10A3	23	153716440	Silent	SNP	G	TCGA-BR-8077-01A-11D-2340-08	2413270	153716440	1554120	135	44733											
CPSF3L	54973	broad.mit.edu	37	chr1	1248005	1248005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccgcttcagcagccccagcGagatgcctacggggatgctg	13	15	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:1248005G>A	uc001aee.1	-	13	1428	c.1370C>T	c.(1369-1371)TCG>TTG	p.S457L	CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.S463L|CPSF3L_uc009vjz.1_Missense_Mutation_p.S435L|CPSF3L_uc010nyj.1_Missense_Mutation_p.S428L|CPSF3L_uc001aeg.1_Missense_Mutation_p.S333L|CPSF3L_uc001aeh.1_Missense_Mutation_p.S356L|CPSF3L_uc001aei.1_Missense_Mutation_p.S359L|CPSF3L_uc001aej.1_Missense_Mutation_p.S284L|CPSF3L_uc001aek.1_Missense_Mutation_p.S199L	NM_017871	NP_060341	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor	457						Golgi apparatus|nucleus	hydrolase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		CAGCCCCAGCGAGATGCCTAC	0.692													A	1248005	G	A	1248005	3	1	63	1	0	0	0	0	1	0	0	0	3827	1059	37	1	452	1	CPSF3L	1	1248005	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08		1248005	248002616	1	44734											
GLTPD1	80772	broad.mit.edu	37	chr1	1262942	1262942	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacaacgcctcgctggccgcCtaccacccctgggtcgtgcg	11	18	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:1262942C>A	uc001aeo.2	+	3	859	c.444C>A	c.(442-444)GCC>GCA	p.A148A	CPSF3L_uc001aee.1_5'Flank|CPSF3L_uc001aef.1_5'Flank|CPSF3L_uc009vjz.1_5'Flank|CPSF3L_uc010nyj.1_5'Flank|CPSF3L_uc001aeg.1_5'Flank|CPSF3L_uc001aeh.1_5'Flank|CPSF3L_uc001aei.1_5'Flank|CPSF3L_uc001aej.1_5'Flank|CPSF3L_uc001aek.1_5'Flank|CPSF3L_uc001aem.1_5'Flank|CPSF3L_uc001ael.1_5'Flank|CPSF3L_uc001aen.1_5'Flank	NM_001029885	NP_001025056	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	148						cytoplasm	glycolipid binding|glycolipid transporter activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGCTGGCCGCCTACCACCCCT	0.716													A	1262942	C	A	1262942	2	1	63	1	0	0	0	0	0	0	0	1	6472	668	24	5		5	GLTPD1	1	1262942	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	14937	1262942	247987679	2	44735											
CCNL2	81669	broad.mit.edu	37	chr1	1326219	1326219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaccgcacgaagacgtcgGtgcgaaggctgtcgttcatg	15	10	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:1326219G>A	uc001afi.2	-	6	718	c.686C>T	c.(685-687)ACC>ATC	p.T229I	CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Missense_Mutation_p.T7I|CCNL2_uc001afg.1_Missense_Mutation_p.T7I|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	cyclin L2 isoform A	229	Cyclin-like 2.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GAAGACGTCGGTGCGAAGGCT	0.552													A	1326219	G	A	1326219	3	1	63	1	0	0	0	0	1	0	0	0	2932	1261	44	4	900	4	CCNL2	1	1326219	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	63277	1326219	247924402	3	44736											
AJAP1	55966	broad.mit.edu	37	chr1	4829992	4829992	+	Frame_Shift_Del	DEL	A	A	-													ctcatcacaactcttgtcttAaaaaattggtaaggctcctt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:4829992delA	uc001alm.1	+	3	1290	c.909delA	c.(907-909)TTAfs	p.L303fs	AJAP1_uc001aln.2_Frame_Shift_Del_p.L303fs	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	303	Targeting signals.|Helical; Signal-anchor for type III membrane protein; (Potential).			L->A: Mistargeting to the apical membrane.	cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CTCTTGTCTTAAAAAATTGGT	0.512													-	4829992	A	-	4829992	7	5	63	1	0	1	0	1	0	0	0	0	438	359	13	0	919	0	AJAP1	1	4829992	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	3503773	4829992	244420629	4	44737											
ESPN	83715	broad.mit.edu	37	chr1	6504723	6504723	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagccactccagcatcaaGggccagcaccctccatgtgg	9	17	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:6504723G>T	uc001amy.2	+	6	1341	c.1173G>T	c.(1171-1173)AAG>AAT	p.K391N		NM_031475	NP_113663	B1AK53	ESPN_HUMAN	espin	391					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding				0	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CCAGCATCAAGGGCCAGCACC	0.622													T	6504723	G	T	6504723	3	4	63	1	0	0	0	0	1	0	0	0	5254	991	35	5	1195	5	ESPN	1	6504723	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1674731	6504723	242745898	5	44738											
CAMTA1	23261	broad.mit.edu	37	chr1	7724488	7724488	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccagcaaacccctccccgtCgagcagaacacccacagcag	8	19	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:7724488C>T	uc001aoi.2	+	9	2088	c.1881C>T	c.(1879-1881)GTC>GTT	p.V627V		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCCTCCCCGTCGAGCAGAACA	0.647													T	7724488	C	T	7724488	2	4	63	1	0	0	0	0	0	0	0	1	2613	871	31	1		1	CAMTA1	1	7724488	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1219765	7724488	241526133	6	44739											
CAMTA1	23261	broad.mit.edu	37	chr1	7811260	7811260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcttgtttcccctgcagtAcgcactttataaaaagatga	7	9	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:7811260A>G	uc001aoi.2	+	20	4898	c.4691A>G	c.(4690-4692)TAC>TGC	p.Y1564C	CAMTA1_uc001aok.3_Missense_Mutation_p.Y607C|CAMTA1_uc001aoj.2_Missense_Mutation_p.Y527C|CAMTA1_uc009vmf.2_Missense_Mutation_p.Y154C	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1564	IQ 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCCCTGCAGTACGCACTTTAT	0.483													G	7811260	A	G	7811260	3	3	63	1	0	0	0	0	1	0	0	0	2613	405	14	3	4769	3	CAMTA1	1	7811260	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	86772	7811260	241439361	7	44740											
GPR157	80045	broad.mit.edu	37	chr1	9165734	9165734	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccggtactcagagagtgcCgtgtgctgtgtggggacagc	18	9	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:9165734C>T	uc001apq.1	-	3	746	c.603G>A	c.(601-603)ACG>ACA	p.T201T	GPR157_uc010oad.1_Intron	NM_024980	NP_079256	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	201	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		CAGAGAGTGCCGTGTGCTGTG	0.637													T	9165734	C	T	9165734	2	4	63	1	0	0	0	0	0	0	0	1	6662	639	23	1		1	GPR157	1	9165734	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1354474	9165734	240084887	8	44741											
PIK3CD	5293	broad.mit.edu	37	chr1	9775947	9775947	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgcgacccagaagtgaaCgactttcgcgccaagatgtg	12	10	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:9775947C>T	uc001aqb.3	+	5	619	c.411C>T	c.(409-411)AAC>AAT	p.N137N	PIK3CD_uc010oaf.1_Silent_p.N137N|PIK3CD_uc001aqe.3_Silent_p.N137N	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	137					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(4)|skin(2)|central_nervous_system(1)	7	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CAGAAGTGAACGACTTTCGCG	0.692													T	9775947	C	T	9775947	2	4	63	1	0	0	0	0	0	0	0	1	11915	535	19	1		1	PIK3CD	1	9775947	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	610213	9775947	239474674	9	44742											
UBE4B	10277	broad.mit.edu	37	chr1	10195195	10195195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcttcccaatgatgagacGcgtgtgaatgcaacgatgga	11	9	1	3	rs146689339		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:10195195G>A	uc001aqs.3	+	16	2888	c.2175G>A	c.(2173-2175)ACG>ACA	p.T725T	UBE4B_uc001aqr.3_Silent_p.T596T|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Silent_p.T180T|UBE4B_uc001aqt.1_Silent_p.T65T	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	725					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ATGATGAGACGCGTGTGAATG	0.443													A	10195195	G	A	10195195	2	1	63	1	0	0	0	0	0	0	0	1	16880	1074	38	1		1	UBE4B	1	10195195	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	419248	10195195	239055426	10	44743											
C1orf127	148345	broad.mit.edu	37	chr1	11015224	11015224	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatgtgaactaagacctcCgactctggctggaatgacac	12	10	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:11015224C>T	uc010oao.1	-	5	356	c.351G>A	c.(349-351)TCG>TCA	p.S117S	C1orf127_uc001arr.1_Silent_p.S99S|C1orf127_uc001ars.1_Silent_p.S117S	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	hypothetical protein LOC148345	117										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CTAAGACCTCCGACTCTGGCT	0.517													T	11015224	C	T	11015224	2	4	63	1	0	0	0	0	0	0	0	1	1994	639	23	1		1	C1orf127	1	11015224	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	820029	11015224	238235397	11	44744											
VPS13D	55187	broad.mit.edu	37	chr1	12353760	12353760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgctattgaggggcagaCggtaggtagcctgggccctc	16	10	0	2	rs140358420		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:12353760C>T	uc001atv.2	+	24	6173	c.6032C>T	c.(6031-6033)ACG>ATG	p.T2011M	VPS13D_uc001atw.2_Missense_Mutation_p.T2011M|VPS13D_uc001atx.2_Missense_Mutation_p.T1199M	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2011					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAGGGGCAGACGGTAGGTAGC	0.507													T	12353760	C	T	12353760	3	4	63	1	0	0	0	0	1	0	0	0	17189	550	19	1	6122	1	VPS13D	1	12353760	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1338536	12353760	236896861	12	44745											
PRDM2	7799	broad.mit.edu	37	chr1	14108436	14108436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtgcaacccaaaaatggCgtggtggttttagataactc	10	8	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:14108436C>T	uc001avi.2	+	8	5002	c.4146C>T	c.(4144-4146)GGC>GGT	p.G1382G	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.G1382G|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.G1181G|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1382	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CCAAAAATGGCGTGGTGGTTT	0.433													T	14108436	C	T	14108436	2	4	63	1	0	0	0	0	0	0	0	1	12458	755	27	1		1	PRDM2	1	14108436	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1754676	14108436	235142185	13	44746											
PLEKHM2	23207	broad.mit.edu	37	chr1	16060293	16060293	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcacgccccaacacaggTggacctcccccacacggcga	9	19	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:16060293T>C	uc010obo.1	+	20	3151	c.2924T>C	c.(2923-2925)GTG>GCG	p.V975A	SLC25A34_uc001axb.1_5'Flank	NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	975					Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CCAACACAGGTGGACCTCCCC	0.627													C	16060293	T	C	16060293	3	2	63	1	0	0	0	0	1	0	0	0	12081	1710	59	3	3002	3	PLEKHM2	1	16060293	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1951857	16060293	233190328	14	44747											
HSPB7	27129	broad.mit.edu	37	chr1	16344393	16344393	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggtggaagaggaGgaggaagaggaagaggaatg	23	0	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:16344393G>A	uc001axo.2	-	1	893	c.66C>T	c.(64-66)TCC>TCT	p.S22S	HSPB7_uc001axp.2_Silent_p.S110S|HSPB7_uc001axq.2_Silent_p.S110S|HSPB7_uc001axr.2_Silent_p.S110S|HSPB7_uc001axs.2_Intron|CLCNKA_uc001axt.2_5'Flank	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN	cardiovascular heat shock protein	22	Required for localization to SC35 splicing speckles.|Poly-Ser.				regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding				0		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		tggaagaggaggaggaagagg	0.527													A	16344393	G	A	16344393	2	1	63	1	0	0	0	0	0	0	0	1	7422	987	35	4		4	HSPB7	1	16344393	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	284100	16344393	232906228	15	44748											
CLCNKB	1188	broad.mit.edu	37	chr1	16378753	16378753	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacggcgctgctggccttcgAggtgaccggccagatagtgc	15	13	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:16378753A>G	uc001axw.3	+	15	1549	c.1469A>G	c.(1468-1470)GAG>GGG	p.E490G	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.E490G|CLCNKB_uc001axy.3_Missense_Mutation_p.E321G	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	490	Helical; (Potential).				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGCCTTCGAGGTGACCGGC	0.657													G	16378753	A	G	16378753	3	3	63	1	0	0	0	0	1	0	0	0	3470	304	11	3	1671	3	CLCNKB	1	16378753	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	34360	16378753	232871868	16	44749											
EPHA2	1969	broad.mit.edu	37	chr1	16464408	16464408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggttaccaggcctgagaCgccattgcgggcctccacgg	14	14	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:16464408C>T	uc001aya.1	-	5	1389	c.1252G>A	c.(1252-1254)GTC>ATC	p.V418I	EPHA2_uc010oca.1_Missense_Mutation_p.V418I	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	418	Extracellular (Potential).|Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGGCCTGAGACGCCATTGCGG	0.632													T	16464408	C	T	16464408	3	4	63	1	0	0	0	0	1	0	0	0	5167	536	19	1	1730	1	EPHA2	1	16464408	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	85655	16464408	232786213	17	44750											
ATP13A2	23400	broad.mit.edu	37	chr1	17313685	17313685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccagcgctggccccgtgCggctcatgagcactgccact	13	16	1	1	rs150748722		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:17313685C>T	uc001baa.2	-	26	3129	c.2939G>A	c.(2938-2940)CGC>CAC	p.R980H	ATP13A2_uc001azz.1_Missense_Mutation_p.R127H|ATP13A2_uc001bab.2_Missense_Mutation_p.R975H|ATP13A2_uc001bac.2_Missense_Mutation_p.R936H	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	980	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGGCCCCGTGCGGCTCATGAG	0.672													T	17313685	C	T	17313685	3	4	63	1	0	0	0	0	1	0	0	0	1124	768	27	1	855	1	ATP13A2	1	17313685	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	849277	17313685	231936936	18	44751											
PADI6	353238	broad.mit.edu	37	chr1	17721598	17721598	+	Frame_Shift_Del	DEL	A	A	-													cagatgacaagaatgagggcAaaaaggtctgctttggggtc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:17721598delA	uc001bak.1	+	13	1489	c.1489delA	c.(1489-1491)AAAfs	p.K497fs		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	peptidylarginine deiminase type 6	489					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GAATGAGGGCAAAAAGGTCTG	0.498													-	17721598	A	-	17721598	7	5	63	1	0	1	0	1	0	0	0	0	11381	131	5	0	1536	0	PADI6	1	17721598	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	407913	17721598	231529023	19	44752											
TMCO4	255104	broad.mit.edu	37	chr1	20020975	20020975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgtcctgcagcagcacGggctgtaggccggcgacacg	14	15	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:20020975G>A	uc001bcn.2	-	15	1694	c.1452C>T	c.(1450-1452)CCC>CCT	p.P484P	TMCO4_uc001bcm.2_Silent_p.P315P|TMCO4_uc001bco.1_Silent_p.P484P|TMCO4_uc001bcp.1_Silent_p.P444P	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	484						integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GCAGCAGCACGGGCTGTAGGC	0.602													A	20020975	G	A	20020975	2	1	63	1	0	0	0	0	0	0	0	1	15995	1103	39	1		1	TMCO4	1	20020975	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2299377	20020975	229229646	20	44753											
EIF4G3	8672	broad.mit.edu	37	chr1	21226332	21226333	+	Frame_Shift_Ins	INS	-	-	T													tttcttccacagctttcactINSttttttaggtcagaggggtc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:21226331_21226332C>CT	uc001bec.3	-	10	1945_1946	c.1689_1690G>AG	c.(1687-1692)aaagtgfs	p.K563fs	EIF4G3_uc010odi.2_Frame_Shift_Ins_p.K167fs|EIF4G3_uc010odj.2_Frame_Shift_Ins_p.K562fs|EIF4G3_uc009vpz.3_Frame_Shift_Ins_p.K283fs|EIF4G3_uc001bef.3_Frame_Shift_Ins_p.K562fs|EIF4G3_uc001bee.3_Frame_Shift_Ins_p.K569fs	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	563					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACAGCTTTCACTTTTTTTAGGT	0.436													T	21226333	-	T	21226332	7	5	63	1	0	1	1	0	0	0	0	0	5038	1606	56	0	3156	0	EIF4G3	1	21226332	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1205357	21226332	228024289	21	44754											
C1QA	712	broad.mit.edu	37	chr1	22964233	22964233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaggaagacctggcagaCgggggcggccaggcctcaag	18	11	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:22964233C>T	uc001bfy.2	+	2	209	c.124C>T	c.(124-126)CGG>TGG	p.R42W	C1QA_uc001bfz.2_Missense_Mutation_p.R42W	NM_015991	NP_057075	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	42	Collagen-like.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCTGGCAGACGGGGGCGGCC	0.662													T	22964233	C	T	22964233	3	4	63	1	0	0	0	0	1	0	0	0	1954	527	19	1	126	1	C1QA	1	22964233	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1737901	22964233	226286388	22	44755											
C1QB	713	broad.mit.edu	37	chr1	22987549	22987549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaccatccgcttcgaccaCgtgatcaccaacatgaacaa	6	15	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:22987549C>T	uc001bgd.2	+	3	564	c.432C>T	c.(430-432)CAC>CAT	p.H144H		NM_000491	NP_000482	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	144	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCTTCGACCACGTGATCACCA	0.567													T	22987549	C	T	22987549	2	4	63	1	0	0	0	0	0	0	0	1	1955	535	19	1		1	C1QB	1	22987549	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	23316	22987549	226263072	23	44756											
EPHB2	2048	broad.mit.edu	37	chr1	23234598	23234598	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctggtctgcaaggtgtcGgactttgggctctcacgctt	12	11	2	0	rs147014777	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:23234598G>A	uc009vqj.1	+	12	2434	c.2289G>A	c.(2287-2289)TCG>TCA	p.S763S	EPHB2_uc001bge.2_Silent_p.S764S|EPHB2_uc001bgf.2_Silent_p.S763S|EPHB2_uc010odu.1_Silent_p.S705S	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	763	Cytoplasmic (Potential).|Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCAAGGTGTCGGACTTTGGGC	0.572									Hereditary_Prostate_Cancer				A	23234598	G	A	23234598	2	1	63	1	0	0	0	0	0	0	0	1	5175	1103	39	1		1	EPHB2	1	23234598	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	247049	23234598	226016023	24	44757											
KDM1A	23028	broad.mit.edu	37	chr1	23382484	23382484	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctcaggcttggcagcagctCgacagttacaaagttttgga	11	9	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:23382484C>A	uc001bgi.2	+	6	1032	c.883C>A	c.(883-885)CGA>AGA	p.R295R	KDM1A_uc001bgj.2_Silent_p.R315R	NM_015013	NP_055828	O60341	KDM1A_HUMAN	lysine-specific histone demethylase 1 isoform b	295	FAD (Potential).				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2						GGCAGCAGCTCGACAGTTACA	0.368													A	23382484	C	A	23382484	2	1	63	1	0	0	0	0	0	0	0	1	8122	876	31	5		5	KDM1A	1	23382484	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	147886	23382484	225868137	25	44758											
E2F2	1870	broad.mit.edu	37	chr1	23845545	23845545	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttccagtctcgtctgcggaGgggccttgacggcaatcact	12	13	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:23845545G>T	uc001bhe.1	-	5	1243	c.815C>A	c.(814-816)CCT>CAT	p.P272H		NM_004091	NP_004082	Q14209	E2F2_HUMAN	E2F transcription factor 2	272	Dimerization (Potential).				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|skin(2)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CGTCTGCGGAGGGGCCTTGAC	0.567													T	23845545	G	T	23845545	3	4	63	1	0	0	0	0	1	0	0	0	4867	1000	35	5	510	5	E2F2	1	23845545	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	463061	23845545	225405076	26	44759											
TMEM57	55219	broad.mit.edu	37	chr1	25785019	25785019	+	Frame_Shift_Del	DEL	A	A	-													aagaaaaggacaaggatgccAaaaaacacaaccttggaata							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:25785019delA	uc001bkk.2	+	6	992	c.790delA	c.(790-792)AAAfs	p.K264fs	TMEM57_uc009vru.2_Intron|TMEM57_uc009vrv.2_Intron|TMEM57_uc009vrt.2_RNA	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	264						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part					0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGGATGCCAAAAAACACAA	0.353													-	25785019	A	-	25785019	7	5	63	1	0	1	0	1	0	0	0	0	16181	131	5	0	812	0	TMEM57	1	25785019	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	1939474	25785019	223465602	27	44760											
MAN1C1	57134	broad.mit.edu	37	chr1	26073179	26073179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcctcagcggggcaacaGtcattgactccctcgatacc	11	14	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:26073179G>A	uc001bkm.2	+	3	988	c.658G>A	c.(658-660)GTC>ATC	p.V220I	MAN1C1_uc009vry.1_Missense_Mutation_p.V40I	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	220	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(1)	1		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CGGGGCAACAGTCATTGACTC	0.592													A	26073179	G	A	26073179	3	1	63	1	0	0	0	0	1	0	0	0	9213	1029	36	4	668	4	MAN1C1	1	26073179	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	288160	26073179	223177442	28	44761											
C1orf135	79000	broad.mit.edu	37	chr1	26162205	26162205	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtggttgaagtggctaaaGgggatgccatgcaatcgtgt	15	6	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:26162205G>T	uc001bkw.1	-	3	353	c.353C>A	c.(352-354)CCT>CAT	p.P118H		NM_024037	NP_076942	Q9H7T9	CA135_HUMAN	aurora A-binding protein	118											0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00521)|all_lung(284;0.00764)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.117)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.28e-25)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000787)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGGCTAAAGGGGATGCCAT	0.483													T	26162205	G	T	26162205	3	4	63	1	0	0	0	0	1	0	0	0	1999	1000	35	5	724	5	C1orf135	1	26162205	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	89026	26162205	223088416	29	44762											
TRIM63	84676	broad.mit.edu	37	chr1	26385070	26385070	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggatggcatacaacgtGtcaaacttctggctcagctc	9	12	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:26385070G>A	uc001bli.1	-	5	778	c.642C>T	c.(640-642)GAC>GAT	p.D214D		NM_032588	NP_115977	Q969Q1	TRI63_HUMAN	muscle specific ring finger protein 1	214	Interaction with TTN.|Potential.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CATACAACGTGTCAAACTTCT	0.512													A	26385070	G	A	26385070	2	1	63	1	0	0	0	0	0	0	0	1	16535	1368	48	4		4	TRIM63	1	26385070	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	222865	26385070	222865551	30	44763											
ZNF683	257101	broad.mit.edu	37	chr1	26689609	26689609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttctggcacaaggcacactGgaatggacgctctccactgt	10	13	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:26689609G>T	uc001bmg.1	-	5	1169	c.1051C>A	c.(1051-1053)CAG>AAG	p.Q351K	ZNF683_uc001bmh.1_Missense_Mutation_p.Q351K|ZNF683_uc009vsj.1_Missense_Mutation_p.Q351K	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	zinc finger protein 683	351	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AAGGCACACTGGAATGGACGC	0.607													T	26689609	G	T	26689609	3	4	63	1	0	0	0	0	1	0	0	0	18087	1357	47	5	471	5	ZNF683	1	26689609	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	304539	26689609	222561012	31	44764											
ARID1A	8289	broad.mit.edu	37	chr1	27101268	27101268	+	Frame_Shift_Del	DEL	C	C	-													caggcagagcacgggctctgCcccccagggccccgcctatc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:27101267_27101267GC>G	uc001bmv.1	+	17	4922	c.4549_4549GC>G	c.(4549-4551)gccfs	p.A1517fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.A1516fs|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Frame_Shift_Del_p.A1134fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.A363fs|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1517					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CACGGGCTCTGCCCCCCAGGG	0.587			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27101268	C	-	27101268	7	5	63	1	0	1	0	1	0	0	0	0	913	739	26	0	4620	0	ARID1A	1	27101268	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	411659	27101268	222149353	32	44765											
ARID1A	8289	broad.mit.edu	37	chr1	27105931	27105932	+	Frame_Shift_Ins	INS	-	-	G													gctgcactggcggattggtgINSggggggacaccactgagcat					rs140055856		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:27105930_27105931T>TG	uc001bmv.1	+	19	5914_5915	c.5541_5542T>TG	c.(5539-5544)ggtgggfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Ins_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Ins_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Ins_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(6)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								G	27105932	-	G	27105931	7	5	63	1	0	1	1	0	0	0	0	0	913	1348	47	0	5620	0	ARID1A	1	27105931	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	4663	27105931	222144690	33	44766											
PIGV	55650	broad.mit.edu	37	chr1	27124087	27124087	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgggctcctccactcctAttatgtactggtttccagct	7	12	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:27124087A>G	uc001bmz.2	+	4	1565	c.1234A>G	c.(1234-1236)ATT>GTT	p.I412V	PIGV_uc001bmy.2_Missense_Mutation_p.I177V|PIGV_uc009vso.2_Missense_Mutation_p.Y405C|PIGV_uc010ofg.1_Missense_Mutation_p.I177V|PIGV_uc001bna.2_Missense_Mutation_p.I412V	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan class V	412	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			ovary(1)	1		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		CTCCACTCCTATTATGTACTG	0.488													G	27124087	A	G	27124087	3	3	63	1	0	0	0	0	1	0	0	0	11901	449	16	3	1244	3	PIGV	1	27124087	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	18156	27124087	222126534	34	44767											
C1orf172	126695	broad.mit.edu	37	chr1	27278207	27278207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctccggcaggtccaggtccGactcatggaaagaatagtac	11	11	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:27278207G>A	uc001bni.1	-	2	754	c.665C>T	c.(664-666)TCG>TTG	p.S222L		NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	hypothetical protein LOC126695	222										large_intestine(1)|ovary(1)	2		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GTCCAGGTCCGACTCATGGAA	0.577													A	27278207	G	A	27278207	3	1	63	1	0	0	0	0	1	0	0	0	2013	1059	37	1	543	1	C1orf172	1	27278207	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	154120	27278207	221972414	35	44768											
WDTC1	23038	broad.mit.edu	37	chr1	27630202	27630202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggatgaaatggtgctgcGggagcgaagctacgactatc	15	7	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:27630202G>A	uc009vst.2	+	14	2094	c.1559G>A	c.(1558-1560)CGG>CAG	p.R520Q	WDTC1_uc001bno.2_Missense_Mutation_p.R519Q|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Missense_Mutation_p.R198Q	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	520							protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		ATGGTGCTGCGGGAGCGAAGC	0.612													A	27630202	G	A	27630202	3	1	63	1	0	0	0	0	1	0	0	0	17339	1116	39	1	1606	1	WDTC1	1	27630202	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	351995	27630202	221620419	36	44769											
SMPDL3B	27293	broad.mit.edu	37	chr1	28271805	28271805	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaggtatccaaagaccccTtccaggtgtgcccatcagct	8	14	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:28271805T>C	uc001bpg.2	+	2	315	c.124T>C	c.(124-126)TTC>CTC	p.F42L	SMPDL3B_uc001bpf.2_Missense_Mutation_p.F42L|SMPDL3B_uc010ofq.1_5'UTR|SMPDL3B_uc010ofr.1_Missense_Mutation_p.F42L	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	acid sphingomyelinase-like phosphodiesterase 3B	42					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			ovary(3)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		CAAAGACCCCTTCCAGGTGTG	0.577													C	28271805	T	C	28271805	3	2	63	1	0	0	0	0	1	0	0	0	14809	1609	56	3	130	3	SMPDL3B	1	28271805	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	641603	28271805	220978816	37	44770											
PTPRU	10076	broad.mit.edu	37	chr1	29609223	29609223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggaggaggagcgggcgcGgaggctgcggcgggagccag	24	8	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:29609223G>A	uc001bru.2	+	12	2014	c.1904G>A	c.(1903-1905)CGG>CAG	p.R635Q	PTPRU_uc001brv.2_Missense_Mutation_p.R635Q|PTPRU_uc001brw.2_Missense_Mutation_p.R635Q|PTPRU_uc009vtq.2_Missense_Mutation_p.R635Q|PTPRU_uc009vtr.2_Missense_Mutation_p.R635Q	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	635	Extracellular (Potential).|Fibronectin type-III 4.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GAGCGGGCGCGGAGGCTGCGG	0.622													A	29609223	G	A	29609223	3	1	63	1	0	0	0	0	1	0	0	0	12813	1116	39	1	1950	1	PTPRU	1	29609223	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1337418	29609223	219641398	38	44771											
PTPRU	10076	broad.mit.edu	37	chr1	29609286	29609286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccattgaccttcgaggcggCgctggcccgaggcctggtgc	16	14	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:29609286C>T	uc001bru.2	+	12	2077	c.1967C>T	c.(1966-1968)GCG>GTG	p.A656V	PTPRU_uc001brv.2_Missense_Mutation_p.A656V|PTPRU_uc001brw.2_Missense_Mutation_p.A656V|PTPRU_uc009vtq.2_Missense_Mutation_p.A656V|PTPRU_uc009vtr.2_Missense_Mutation_p.A656V	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	656	Extracellular (Potential).|Fibronectin type-III 4.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TTCGAGGCGGCGCTGGCCCGA	0.657													T	29609286	C	T	29609286	3	4	63	1	0	0	0	0	1	0	0	0	12813	768	27	1	2013	1	PTPRU	1	29609286	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	63	29609286	219641335	39	44772											
BAI2	576	broad.mit.edu	37	chr1	32205105	32205105	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccctggggaggagaggcTgagcacctccttgggcagga	16	11	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:32205105T>G	uc001btn.2	-	15	2653	c.2299A>C	c.(2299-2301)AGC>CGC	p.S767R	BAI2_uc001btp.1_5'Flank|BAI2_uc010ogn.1_5'Flank|BAI2_uc010ogo.1_Missense_Mutation_p.S409R|BAI2_uc010ogp.1_Missense_Mutation_p.S700R|BAI2_uc010ogq.1_Missense_Mutation_p.S767R|BAI2_uc001bto.2_Missense_Mutation_p.S767R|BAI2_uc001btq.1_Missense_Mutation_p.S700R|BAI2_uc010ogr.1_3'UTR	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	767	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GAGGAGAGGCTGAGCACCTCC	0.692													G	32205105	T	G	32205105	3	3	63	1	0	0	0	0	1	0	0	0	1299	1580	55	5	2534	5	BAI2	1	32205105	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	2595819	32205105	217045516	40	44773											
BAI2	576	broad.mit.edu	37	chr1	32207266	32207266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgtagatgatctcgccaGcagctgccttcttccacgtc	9	13	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:32207266G>A	uc001btn.2	-	10	2000	c.1646C>T	c.(1645-1647)GCT>GTT	p.A549V	BAI2_uc010ogo.1_Missense_Mutation_p.A191V|BAI2_uc010ogp.1_Missense_Mutation_p.A482V|BAI2_uc010ogq.1_Missense_Mutation_p.A549V|BAI2_uc001bto.2_Missense_Mutation_p.A549V|BAI2_uc001btq.1_Missense_Mutation_p.A482V|BAI2_uc010ogr.1_Missense_Mutation_p.A482V	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	549	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GATCTCGCCAGCAGCTGCCTT	0.582													A	32207266	G	A	32207266	3	1	63	1	0	0	0	0	1	0	0	0	1299	971	34	2	3207	2	BAI2	1	32207266	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2161	32207266	217043355	41	44774											
IQCC	55721	broad.mit.edu	37	chr1	32672208	32672208	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaagagtctgagggagaGgccacctgggaggagatggt	19	5	1	5			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:32672208G>T	uc001bum.2	+	3	332	c.285G>T	c.(283-285)GAG>GAT	p.E95D	IQCC_uc009vua.2_Missense_Mutation_p.E175D|IQCC_uc010ogz.1_Translation_Start_Site|DCDC2B_uc001bun.2_5'Flank	NM_018134	NP_060604	Q4KMZ1	IQCC_HUMAN	IQ motif containing C isoform 2	95										ovary(4)	4		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTGAGGGAGAGGCCACCTGGG	0.537													T	32672208	G	T	32672208	3	4	63	1	0	0	0	0	1	0	0	0	7804	991	35	5	535	5	IQCC	1	32672208	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	464942	32672208	216578413	42	44775											
FNDC5	252995	broad.mit.edu	37	chr1	33330280	33330280	+	Frame_Shift_Del	DEL	C	C	-													ctcaccttgctgcggagaagCcccccgccctggtgctctgg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:33330280delC	uc001bwg.2	-	5	608	c.393delG	c.(391-393)GGGfs	p.G131fs	FNDC5_uc001bwe.2_RNA|FNDC5_uc001bwf.1_Frame_Shift_Del_p.G131fs	NM_153756	NP_715637	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	190	Cytoplasmic (Potential).					integral to membrane|peroxisomal membrane				ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGCGGAGAAGCCCCCCGCCCT	0.587													-	33330280	C	-	33330280	7	5	63	1	0	1	0	1	0	0	0	0	5972	726	26	0	101	0	FNDC5	1	33330280	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	658072	33330280	215920341	43	44776											
ZNF362	149076	broad.mit.edu	37	chr1	33745827	33745827	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccgtccacacccaccaccaCcagccagagccgcctcatcg	6	23	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:33745827C>G	uc001bxc.1	+	5	622	c.452C>G	c.(451-453)ACC>AGC	p.T151S		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCCACCACCACCAGCCAGAGC	0.687													G	33745827	C	G	33745827	3	3	63	1	0	0	0	0	1	0	0	0	17865	507	18	5	466	5	ZNF362	1	33745827	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	415547	33745827	215504794	44	44777											
CSMD2	114784	broad.mit.edu	37	chr1	33985139	33985139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatactgctgtgcacactgtGctgactgtgaactccgcctc	9	13	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:33985139G>A	uc001bxn.1	-	69	10472	c.10443C>T	c.(10441-10443)AGC>AGT	p.S3481S	CSMD2_uc001bxm.1_Silent_p.S3625S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3481	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCACACTGTGCTGACTGTGA	0.622													A	33985139	G	A	33985139	2	1	63	1	0	0	0	0	0	0	0	1	3945	1310	46	2		2	CSMD2	1	33985139	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	239312	33985139	215265482	45	44778											
CSMD2	114784	broad.mit.edu	37	chr1	34117960	34117960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgacgtagtctggtgagaCggtcactttccagtcacact	11	10	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:34117960C>T	uc001bxn.1	-	28	4458	c.4429G>A	c.(4429-4431)GTC>ATC	p.V1477I	CSMD2_uc001bxm.1_Missense_Mutation_p.V1517I|CSMD2_uc001bxo.1_Missense_Mutation_p.V390I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1477	CUB 9.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCTGGTGAGACGGTCACTTTC	0.572													T	34117960	C	T	34117960	3	4	63	1	0	0	0	0	1	0	0	0	3945	536	19	1	6202	1	CSMD2	1	34117960	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	132821	34117960	215132661	46	44779											
CSMD2	114784	broad.mit.edu	37	chr1	34204792	34204792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgctgccctccttcaggaCgcaggtgatggtctctgagc	12	14	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:34204792C>T	uc001bxn.1	-	15	2226	c.2197G>A	c.(2197-2199)GTC>ATC	p.V733I	CSMD2_uc001bxm.1_Missense_Mutation_p.V773I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	733	Sushi 4.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCTTCAGGACGCAGGTGATG	0.612													T	34204792	C	T	34204792	3	4	63	1	0	0	0	0	1	0	0	0	3945	536	19	1	8486	1	CSMD2	1	34204792	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	86832	34204792	215045829	47	44780											
GJB4	127534	broad.mit.edu	37	chr1	35227553	35227553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggaatgcctacccgataCgtgcccaccatatgtcctct	8	16	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:35227553C>T	uc001bxv.1	+	2	1068	c.698C>T	c.(697-699)ACG>ATG	p.T233M	GJB4_uc001bxw.3_Missense_Mutation_p.T233M	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4	233	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity			ovary(2)|central_nervous_system(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CTACCCGATACGTGCCCACCA	0.617													T	35227553	C	T	35227553	3	4	63	1	0	0	0	0	1	0	0	0	6410	536	19	1	700	1	GJB4	1	35227553	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1022761	35227553	214023068	48	44781											
DLGAP3	58512	broad.mit.edu	37	chr1	35365852	35365852	+	Frame_Shift_Del	DEL	C	C	-													ccttgccaccggtggggtaaCccccccagtcatcttgcggc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:35365851_35365851AC>A	uc001byc.3	-	1	1131	c.1131_1131GT>T	c.(1129-1131)ggtfs	p.G377fs		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	377					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CGGTGGGGTAACCCCCCCAGT	0.607													-	35365852	C	-	35365852	7	5	63	1	0	1	0	1	0	0	0	0	4561	507	18	0	1845	0	DLGAP3	1	35365852	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	138299	35365852	213884769	49	44782											
COL8A2	1296	broad.mit.edu	37	chr1	36564202	36564203	+	Frame_Shift_Ins	INS	-	-	G													ctgcagacccaggaagtccaINSgggggacccccaagaccctg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:36564202_36564203insG	uc001bzv.1	-	2	1086_1087	c.1079_1080insC	c.(1078-1080)CCTfs	p.P360fs	COL8A2_uc001bzw.1_Frame_Shift_Ins_p.P295fs	NM_005202	NP_005193	P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2 precursor	360	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGGAAGTCCAGGGGGACCCCC	0.708													G	36564203	-	G	36564202	7	5	63	1	0	1	1	0	0	0	0	0	3706	175	7	0	1035	0	COL8A2	1	36564202	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1198350	36564202	212686419	50	44783	159	2									
COL8A2	1296	broad.mit.edu	37	chr1	36564203	36564204	+	Frame_Shift_Ins	INS	-	-	G													tgcagacccaggaagtccagINSggggacccccaagaccctgt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:36564202_36564203A>AG	uc001bzv.2	-	1	1086_1087	c.1079_1080T>CT	c.(1078-1080)cctfs	p.P360fs	COL8A2_uc001bzw.2_Frame_Shift_Ins_p.P295fs	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	360	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGGAAGTCCAGGGGGACCCCC	0.708													G	36564204	-	G	36564203	7	5	63	1	0	1	1	0	0	0	0	0	3706	1000	35	0	1036	0	COL8A2	1	36564203	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1	36564203	212686418	51	44784	159	2									
MAP7D1	55700	broad.mit.edu	37	chr1	36636764	36636765	+	Frame_Shift_Ins	INS	-	-	CC													caggtcgggcctaggccagcINSccccccgcaggaagagtccc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:36636763_36636764G>GCC	uc001bzz.3	+	1	454_455	c.238_239G>GCC	c.(238-240)gccfs	p.A80fs	MAP7D1_uc001caa.3_Frame_Shift_Ins_p.A80fs|MAP7D1_uc001cab.3_Frame_Shift_Ins_p.A80fs|MAP7D1_uc001cac.3_5'Flank	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.	80	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCCTAGGCCAGCCCCCCCGCAG	0.653													CC	36636765	-	CC	36636764	7	5	63	1	0	1	1	0	0	0	0	0	9267	739	26	0	245	0	MAP7D1	1	36636764	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	72561	36636764	212613857	52	44785											
CSF3R	1441	broad.mit.edu	37	chr1	36938264	36938264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggctggggtccatggtccGcagcatggggggctccagtt	18	10	0	0	rs150616658		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:36938264G>A	uc001caw.1	-	7	875	c.697C>T	c.(697-699)CGG>TGG	p.R233W	CSF3R_uc001cat.1_5'Flank|CSF3R_uc009vvc.1_5'Flank|CSF3R_uc001cau.1_5'Flank|CSF3R_uc001cav.1_Missense_Mutation_p.R233W|CSF3R_uc001cax.1_Missense_Mutation_p.R233W|CSF3R_uc001cay.1_Missense_Mutation_p.R233W	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	233	Extracellular (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCCATGGTCCGCAGCATGGGG	0.627													A	36938264	G	A	36938264	3	1	63	1	0	0	0	0	1	0	0	0	3937	1086	38	1	2047	1	CSF3R	1	36938264	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	301500	36938264	212312357	53	44786											
EPHA10	284656	broad.mit.edu	37	chr1	38184382	38184382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcccatagccagcagccgCgaagctgtccttgtagcggc	12	15	0	0	rs11583463		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:38184382C>T	uc009vvi.2	-	16	2949	c.2863G>A	c.(2863-2865)GCG>ACG	p.A955T	EPHA10_uc001cbt.2_RNA|EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	955	Cytoplasmic (Potential).|SAM.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAGCAGCCGCGAAGCTGTCC	0.672													T	38184382	C	T	38184382	3	4	63	1	0	0	0	0	1	0	0	0	5166	768	27	1	171	1	EPHA10	1	38184382	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1246118	38184382	211066239	54	44787											
KIAA0754	643314	broad.mit.edu	37	chr1	39877867	39877867	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcaaactgaggggaatggtGaggagtgcattgagagggtc	18	4	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:39877867G>A	uc009vvt.1	+	1	2692	c.1930G>A	c.(1930-1932)GAG>AAG	p.E644K	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	508											0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGGGAATGGTGAGGAGTGCAT	0.423													A	39877867	G	A	39877867	3	1	63	1	0	0	0	0	1	0	0	0	8192	1291	45	4	1932	4	KIAA0754	1	39877867	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1693485	39877867	209372754	55	44788											
PPIE	10450	broad.mit.edu	37	chr1	40219004	40219004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagcagaaggtgatcatcGccgactgtggggagtacgtg	15	8	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:40219004G>A	uc001cds.1	+	10	926	c.883G>A	c.(883-885)GCC>ACC	p.A295T	PPIE_uc001cdt.1_Missense_Mutation_p.A229T|PPIE_uc010oiy.1_Missense_Mutation_p.A216T|PPIE_uc001cdu.1_RNA|PPIE_uc001cdv.2_Intron|PPIE_uc001cdw.2_Intron|PPIE_uc001cdx.1_Missense_Mutation_p.A211T	NM_006112	NP_006103	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E isoform 1	295	PPIase cyclophilin-type.				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding				0	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGTGATCATCGCCGACTGTGG	0.582													A	40219004	G	A	40219004	3	1	63	1	0	0	0	0	1	0	0	0	12322	1087	38	1	921	1	PPIE	1	40219004	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	341137	40219004	209031617	56	44789											
OXCT2	64064	broad.mit.edu	37	chr1	40235958	40235958	+	Frame_Shift_Del	DEL	G	G	-													gatgaagttgctggccagcaGggggatgcctatgcccagat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:40235958delG	uc001ceb.1	-	1	1063	c.970delC	c.(970-972)CTGfs	p.L324fs	BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron|OXCT2_uc009vvu.1_Frame_Shift_Del_p.L318fs	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2 precursor	324					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			pancreas(1)	1	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	CTGGCCAGCAGGGGGATGCCT	0.587											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	40235958	G	-	40235958	7	5	63	1	0	1	0	1	0	0	0	0	11330	991	35	0	587	0	OXCT2	1	40235958	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	16954	40235958	209014663	57	44790											
ZNF643	65243	broad.mit.edu	37	chr1	40928171	40928171	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaactacattgtggcctaaTgatggaaagatttacaaaag	9	5	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:40928171T>C	uc001cfn.1	+	5	812	c.515T>C	c.(514-516)ATG>ACG	p.M172T	ZNF643_uc001cfl.1_Missense_Mutation_p.M70T|ZNF643_uc001cfm.1_Missense_Mutation_p.M38T	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	zinc finger protein 643	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			TGTGGCCTAATGATGGAAAGA	0.358													C	40928171	T	C	40928171	3	2	63	1	0	0	0	0	1	0	0	0	18056	1464	51	3	533	3	ZNF643	1	40928171	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	692213	40928171	208322450	58	44791											
MPL	4352	broad.mit.edu	37	chr1	43805156	43805156	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctgcagaggcctcactcAgcctctgctctggaccagtc	10	16	5	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:43805156A>G	uc001ciw.2	+	4	651	c.606A>G	c.(604-606)TCA>TCG	p.S202S	MPL_uc001civ.2_Silent_p.S202S|MPL_uc009vwr.2_Silent_p.S195S	NM_005373	NP_005364	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	202	Extracellular (Potential).|Fibronectin type-III 1.				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCCTCACTCAGCCTCTGCTC	0.567			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						G	43805156	A	G	43805156	2	3	63	1	0	0	0	0	0	0	0	1	9730	175	7	3		3	MPL	1	43805156	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	2876985	43805156	205445465	59	44792											
KIAA0467	23334	broad.mit.edu	37	chr1	43905354	43905354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtggcccccctcctctcCggggcccccagacccactgc	10	21	1	1	rs150979208		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:43905354C>T	uc001cjk.1	+	35	4721	c.4259C>T	c.(4258-4260)CCG>CTG	p.P1420L		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2319						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCTCCTCTCCGGGGCCCCCA	0.602													T	43905354	C	T	43905354	3	4	63	1	0	0	0	0	1	0	0	0	8178	652	23	1	4389	1	KIAA0467	1	43905354	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	100198	43905354	205345267	60	44793											
DPH2	1802	broad.mit.edu	37	chr1	44437851	44437851	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctcccttccacgtggctcTcccaccacctgagtcagagc	7	19	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:44437851T>C	uc001ckz.2	+	5	1385	c.1190T>C	c.(1189-1191)CTC>CCC	p.L397P	DPH2_uc001cla.2_Missense_Mutation_p.L169P|DPH2_uc010okk.1_Missense_Mutation_p.L262P|DPH2_uc001clb.2_Missense_Mutation_p.L321P|ATP6V0B_uc001clc.2_5'Flank|ATP6V0B_uc001cld.2_5'Flank|ATP6V0B_uc001cle.2_5'Flank|ATP6V0B_uc001clf.2_5'Flank	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	diphthamide biosynthesis protein 2 isoform a	397					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CACGTGGCTCTCCCACCACCT	0.562													C	44437851	T	C	44437851	3	2	63	1	0	0	0	0	1	0	0	0	4720	1551	54	3	1208	3	DPH2	1	44437851	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	532497	44437851	204812770	61	44794											
TESK2	10420	broad.mit.edu	37	chr1	45810847	45810847	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgatgcaagaactcagGcgaaccaggcaaggaacgcc	11	12	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:45810847G>T	uc001cns.1	-	11	1784	c.1381C>A	c.(1381-1383)CCT>ACT	p.P461T	TESK2_uc009vxr.1_Missense_Mutation_p.P432T|TESK2_uc010olo.1_Missense_Mutation_p.P378T|TESK2_uc009vxs.1_Missense_Mutation_p.P253T	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	testis-specific protein kinase 2	461					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(2)|pancreas(1)	5	Acute lymphoblastic leukemia(166;0.155)					AAGAACTCAGGCGAACCAGGC	0.582													T	45810847	G	T	45810847	3	4	63	1	0	0	0	0	1	0	0	0	15765	1203	42	5	338	5	TESK2	1	45810847	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1372996	45810847	203439774	62	44795											
TESK2	10420	broad.mit.edu	37	chr1	45851582	45851582	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaacacttactgatgtcttAcctctgtaagtgcatgcaat	6	10	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:45851582A>G	uc001cns.1	-	4	796	c.393_splice	c.e4+1	p.E131_splice	TESK2_uc009vxr.1_Splice_Site_p.E131_splice|TESK2_uc010olo.1_Splice_Site_p.E48_splice|TESK2_uc009vxs.1_Intron	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	testis-specific protein kinase 2						actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(2)|pancreas(1)	5	Acute lymphoblastic leukemia(166;0.155)					CTGATGTCTTACCTCTGTAAG	0.338													G	45851582	A	G	45851582	5	3	63	1	0	0	0	0	0	0	1	0	15765	405	14	3	1352	3	TESK2	1	45851582	Splice_Site	SNP	A	TCGA-BR-8078-01A-11D-2340-08	40735	45851582	203399039	63	44796											
CCDC17	149483	broad.mit.edu	37	chr1	46086396	46086396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagctgggccctcaccGgaggtgggtactggtactca	15	12	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:46086396G>A	uc010olt.1	-	12	1857	c.1709C>T	c.(1708-1710)CCG>CTG	p.P570L	CCDC17_uc009vxy.2_Missense_Mutation_p.P538L|CCDC17_uc010ols.1_Missense_Mutation_p.P561L|CCDC17_uc001com.3_Missense_Mutation_p.P391L|CCDC17_uc001con.3_RNA|CCDC17_uc009vxz.2_Intron	NM_001114938	NP_001108410	Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	570										ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GGCCCTCACCGGAGGTGGGTA	0.463													A	46086396	G	A	46086396	3	1	63	1	0	0	0	0	1	0	0	0	2793	1130	39	1	167	1	CCDC17	1	46086396	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	234814	46086396	203164225	64	44797											
GPBP1L1	60313	broad.mit.edu	37	chr1	46120890	46120891	+	Frame_Shift_Ins	INS	-	-	A													ttcgtaggggaccattgttaINSaaaaaaccatcagaggaatt					rs146948905		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:46120889_46120890T>TA	uc001coq.3	-	4	1523_1524	c.162_163A>TA	c.(160-165)tttaacfs	p.F54fs		NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN	Homo sapiens GC-rich promoter binding protein 1-like 1 (GPBP1L1), mRNA.	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					GGACCATTGTTAAAAAAACCAT	0.475													A	46120891	-	A	46120890	7	5	63	1	0	1	1	0	0	0	0	0	6596	359	13	0	1298	0	GPBP1L1	1	46120890	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	34494	46120890	203129731	65	44798											
SLC5A9	200010	broad.mit.edu	37	chr1	48698101	48698101	+	Frame_Shift_Del	DEL	G	G	-													gccaagggaggctccgtgctGgggggctacctgaagatcct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:48698100_48698100TG>T	uc001crn.2	+	8	1086	c.1034_1034TG>T	c.(1033-1035)ctgfs	p.L345fs	SLC5A9_uc010oms.1_Non-coding_Transcript|SLC5A9_uc001cro.2_Frame_Shift_Del_p.L320fs|SLC5A9_uc010omt.1_Frame_Shift_Del_p.L334fs|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	320						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GGCTCCGTGCTGGGGGGCTAC	0.587													-	48698101	G	-	48698101	7	5	63	1	0	1	0	1	0	0	0	0	14672	1335	47	0	1069	0	SLC5A9	1	48698101	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	2577211	48698101	200552520	66	44799											
TTC39A	22996	broad.mit.edu	37	chr1	51760082	51760082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagagcaggcactggcagcGagatagggttggaggagaag	18	7	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:51760082G>A	uc001csl.2	-	14	1460	c.1355C>T	c.(1354-1356)TCG>TTG	p.S452L	TTC39A_uc001csk.2_Missense_Mutation_p.S417L|TTC39A_uc010ond.1_Missense_Mutation_p.S389L|TTC39A_uc010one.1_Missense_Mutation_p.S416L|TTC39A_uc010onf.1_Missense_Mutation_p.S420L|TTC39A_uc001csj.2_Missense_Mutation_p.S53L	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A isoform 2	452							binding			skin(1)	1						CACTGGCAGCGAGATAGGGTT	0.597													A	51760082	G	A	51760082	3	1	63	1	0	0	0	0	1	0	0	0	16704	1059	37	1	506	1	TTC39A	1	51760082	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3061981	51760082	197490539	67	44800											
NRD1	4898	broad.mit.edu	37	chr1	52279744	52279744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcattatcctcaattttcCgaatctcttcaaaaattctg	2	10	5	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:52279744C>T	uc001ctc.3	-	16	2163	c.1841G>A	c.(1840-1842)CGG>CAG	p.R614Q	NRD1_uc009vzb.2_Missense_Mutation_p.R309Q|NRD1_uc001ctd.3_Missense_Mutation_p.R546Q|NRD1_uc001cte.2_Missense_Mutation_p.R482Q|NRD1_uc001ctf.2_Missense_Mutation_p.R546Q|NRD1_uc010ong.1_RNA	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	545					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						CTCAATTTTCCGAATCTCTTC	0.254													T	52279744	C	T	52279744	3	4	63	1	0	0	0	0	1	0	0	0	10645	652	23	1	1890	1	NRD1	1	52279744	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	519662	52279744	196970877	68	44801											
ORC1L	4998	broad.mit.edu	37	chr1	52839017	52839017	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggtacggcagtccctccaTtctgcacagtgccacatgtt	11	13	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:52839017T>G	uc001ctt.2	-	17	2641	c.2422A>C	c.(2422-2424)ATG>CTG	p.M808L	ORC1L_uc010oni.1_Missense_Mutation_p.M803L|ORC1L_uc001ctu.2_Missense_Mutation_p.M808L|ORC1L_uc009vzd.2_Missense_Mutation_p.M562L	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	808	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0						AGTCCCTCCATTCTGCACAGT	0.507													G	52839017	T	G	52839017	3	3	63	1	0	0	0	0	1	0	0	0	11261	1493	52	5	167	5	ORC1L	1	52839017	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	559273	52839017	196411604	69	44802											
PRPF38A	84950	broad.mit.edu	37	chr1	52874256	52874256	+	Frame_Shift_Del	DEL	G	G	-													ctcaggtatgtccgcatgctGggggcactttacatgaggct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:52874255_52874255TG>T	uc001ctv.4	+	2	508	c.305_305TG>T	c.(304-306)ctgfs	p.L102fs	PRPF38A_uc001ctw.4_Intron	NM_032864	NP_116253	Q8NAV1	PR38A_HUMAN	Homo sapiens PRP38 pre-mRNA processing factor 38 (yeast) domain containing A (PRPF38A), mRNA.	102					RNA splicing|mRNA processing	spliceosomal complex		p.L102Q(2)		cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						GTCCGCATGCTGGGGGCACTT	0.448													-	52874256	G	-	52874256	7	5	63	1	0	1	0	1	0	0	0	0	12567	1335	47	0	316	0	PRPF38A	1	52874256	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	35239	52874256	196376365	70	44803											
DMRTB1	63948	broad.mit.edu	37	chr1	53930372	53930372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccgccgccgccgccactGccgccccttccaccgcttcc	8	26	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:53930372G>A	uc001cvq.1	+	3	868	c.813G>A	c.(811-813)CTG>CTA	p.L271L		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal,	271	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						cgccgccactgccgccCCTTC	0.557													A	53930372	G	A	53930372	2	1	63	1	0	0	0	0	0	0	0	1	4590	1306	46	2		2	DMRTB1	1	53930372	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1056116	53930372	195320249	71	44804											
GLIS1	148979	broad.mit.edu	37	chr1	53986414	53986414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacactcggtcaggacgtcgGcctcggtgtcagggcccgca	15	14	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:53986414G>A	uc001cvr.1	-	6	1661	c.1094C>T	c.(1093-1095)GCC>GTC	p.A365V		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	365					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			skin(1)	1						CAGGACGTCGGCCTCGGTGTC	0.657													A	53986414	G	A	53986414	3	1	63	1	0	0	0	0	1	0	0	0	6445	1203	42	2	788	2	GLIS1	1	53986414	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	56042	53986414	195264207	72	44805											
GLIS1	148979	broad.mit.edu	37	chr1	54060232	54060232	+	Frame_Shift_Del	DEL	C	C	-													gccgggcccgcttggaagggCcccccagatctcccgtcaga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:54060232delC	uc001cvr.1	-	3	911	c.344delG	c.(343-345)GGCfs	p.G115fs		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	115					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			skin(1)	1						CTTGGAAGGGCCCCCCAGATC	0.647													-	54060232	C	-	54060232	7	5	63	1	0	1	0	1	0	0	0	0	6445	739	26	0	1550	0	GLIS1	1	54060232	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	73818	54060232	195190389	73	44806											
INADL	10207	broad.mit.edu	37	chr1	62330097	62330097	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aattcttgttgatgaagaatAtgagttatatcaagatccct	7	5	2	5			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:62330097A>T	uc001dab.2	+	20	2741	c.2627A>T	c.(2626-2628)TAT>TTT	p.Y876F	INADL_uc009waf.1_Missense_Mutation_p.Y876F|INADL_uc001daa.2_Missense_Mutation_p.Y876F|INADL_uc001dad.3_Missense_Mutation_p.Y573F|INADL_uc001dac.2_RNA	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	876					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						GATGAAGAATATGAGTTATAT	0.438													T	62330097	A	T	62330097	3	4	63	1	0	0	0	0	1	0	0	0	7731	449	16	5	2701	5	INADL	1	62330097	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	8269865	62330097	186920524	74	44807											
INADL	10207	broad.mit.edu	37	chr1	62330117	62330117	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgagttatatcaagatcccTcaccatccatggagttgtat	7	9	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:62330117T>G	uc001dab.2	+	20	2761	c.2647T>G	c.(2647-2649)TCA>GCA	p.S883A	INADL_uc009waf.1_Missense_Mutation_p.S883A|INADL_uc001daa.2_Missense_Mutation_p.S883A|INADL_uc001dad.3_Missense_Mutation_p.S580A|INADL_uc001dac.2_RNA	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	883					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						TCAAGATCCCTCACCATCCAT	0.433													G	62330117	T	G	62330117	3	3	63	1	0	0	0	0	1	0	0	0	7731	1551	54	5	2721	5	INADL	1	62330117	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	20	62330117	186920504	75	44808											
EFCAB7	84455	broad.mit.edu	37	chr1	64022887	64022887	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaacaagtggtgagaaAtgtgatgaagatgcttgggc	15	3	0	5			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:64022887A>C	uc001dbf.2	+	10	1611	c.1317A>C	c.(1315-1317)AAA>AAC	p.K439N		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	439							calcium ion binding				0						GTGGTGAGAAATGTGATGAAG	0.308													C	64022887	A	C	64022887	3	2	63	1	0	0	0	0	1	0	0	0	4940	98	4	5	1351	5	EFCAB7	1	64022887	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	1692770	64022887	185227734	76	44809											
GNG12	55970	broad.mit.edu	37	chr1	68171151	68171151	+	Frame_Shift_Del	DEL	T	T	-													ccactataagatgatgcaagTttttttatccttgaaagggt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:68171151delT	uc001dea.1	-	4	394	c.202delA	c.(202-204)ACTfs	p.T68fs		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	G-protein gamma-12 subunit precursor	68					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity				0						ATGATGCAAGTTTTTTTATCC	0.438													-	68171151	T	-	68171151	7	5	63	1	0	1	0	1	0	0	0	0	6525	1725	60	0	20	0	GNG12	1	68171151	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	4148264	68171151	181079470	77	44810											
LRRIQ3	127255	broad.mit.edu	37	chr1	74492637	74492637	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttcttcacaatgtctttTatatatttcttgagatctaa	3	6	5	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:74492637T>C	uc001dfy.3	-	8	1927	c.1735A>G	c.(1735-1737)AAA>GAA	p.K579E	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	579	Potential.									ovary(2)	2						CAATGTCTTTTATATATTTCT	0.284													C	74492637	T	C	74492637	3	2	63	1	0	0	0	0	1	0	0	0	9030	1763	61	3	143	3	LRRIQ3	1	74492637	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	6321486	74492637	174757984	78	44811											
C1orf173	127254	broad.mit.edu	37	chr1	75038908	75038908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgcctggagggatctccCttttttctgtaaactcttct	7	11	4	0	rs35151101		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:75038908C>T	uc001dgg.2	-	14	2705	c.2486G>A	c.(2485-2487)AGG>AAG	p.R829K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	829	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						AGGGATCTCCCTTTTTTCTGT	0.572													T	75038908	C	T	75038908	3	4	63	1	0	0	0	0	1	0	0	0	2014	681	24	4	2110	4	C1orf173	1	75038908	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	546271	75038908	174211713	79	44812											
C1orf173	127254	broad.mit.edu	37	chr1	75078435	75078436	+	Frame_Shift_Ins	INS	-	-	A													tcacctgcatcccattcaggINSaaaaaggtgagactgaaggg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:75078435_75078436insA	uc001dgg.2	-	9	1277_1278	c.1058_1059insT	c.(1057-1059)TTCfs	p.F353fs	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Frame_Shift_Ins_p.F147fs	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	353										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						TCCCATTCAGGAAAAAGGTGAG	0.426													A	75078436	-	A	75078435	7	5	63	1	0	1	1	0	0	0	0	0	2014	1165	41	0	3557	0	C1orf173	1	75078435	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	39527	75078435	174172186	80	44813	160	2									
C1orf173	127254	broad.mit.edu	37	chr1	75078436	75078437	+	Frame_Shift_Ins	INS	-	-	A													cacctgcatcccattcaggaINSaaaaggtgagactgaagggg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:75078435_75078436G>GA	uc001dgg.3	-	8	1277_1278	c.1058_1059C>TC	c.(1057-1059)ttcfs	p.F353fs	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Frame_Shift_Ins_p.F147fs	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	353										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCCATTCAGGAAAAAGGTGAG	0.426													A	75078437	-	A	75078436	7	5	63	1	0	1	1	0	0	0	0	0	2014	246	9	0	3558	0	C1orf173	1	75078436	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1	75078436	174172185	81	44814	160	2									
SLC44A5	204962	broad.mit.edu	37	chr1	75688134	75688134	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaatcacttcaatgatgcAgagtattatcactttgaaca	6	8	3	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:75688134A>G	uc001dgu.2	-	14	1141	c.997T>C	c.(997-999)TGC>CGC	p.C333R	SLC44A5_uc001dgt.2_Missense_Mutation_p.C333R|SLC44A5_uc001dgs.2_Missense_Mutation_p.C291R|SLC44A5_uc001dgr.2_Missense_Mutation_p.C291R|SLC44A5_uc010oqz.1_Missense_Mutation_p.C372R|SLC44A5_uc010ora.1_Missense_Mutation_p.C327R|SLC44A5_uc010orb.1_Missense_Mutation_p.C203R	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	333	Helical; (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)|skin(2)	4						TCAATGATGCAGAGTATTATC	0.398													G	75688134	A	G	75688134	3	3	63	1	0	0	0	0	1	0	0	0	14639	188	7	3	1317	3	SLC44A5	1	75688134	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	609698	75688134	173562487	82	44815											
FUBP1	8880	broad.mit.edu	37	chr1	78433854	78433854	+	Frame_Shift_Del	DEL	T	T	-													aaaaggaatacttacagtcaTtttgaggagcaactttctta							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:78433853_78433853AT>A	uc001dii.3	-	2	335	c.246_246AT>T	c.(244-246)aatfs	p.N82fs	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Frame_Shift_Del_p.N103fs	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	82					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ACTTACAGTCATTTTGAGGAG	0.323			"F, N"		oligodendroglioma								-	78433854	T	-	78433854	7	5	63	1	0	1	0	1	0	0	0	0	6092	1493	52	0	1761	0	FUBP1	1	78433854	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	2745720	78433854	170816767	83	44816											
TTLL7	79739	broad.mit.edu	37	chr1	84335733	84335735	+	In_Frame_Del	DEL	AAG	AAG	-													agttgtaggttggtgttctcAagaagaattgggtgctccct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:84335732_84335734CAAG>C	uc001djc.3	-	20	2971_2973	c.2575_2577CTTG>G	c.(2575-2577)ttg>G	p.L859del	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Non-coding_Transcript|TTLL7_uc001djg.3_Intron	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	859					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTGGTGTTCTCAAGAAGAATTGG	0.369													-	84335735	AAG	-	84335733	7	5	63	1	0	1	0	1	0	0	0	0	16729	131	5	0	91	0	TTLL7	1	84335733	In_Frame_Del	DEL	AAG	TCGA-BR-8078-01A-11D-2340-08	5901879	84335733	164914888	84	44817											
HS2ST1	9653	broad.mit.edu	37	chr1	87538643	87538643	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctattgcaagacacgaagtcCgagaaattgagcagcgacat	10	9	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:87538643C>T	uc010osk.1	+	2	536	c.151C>T	c.(151-153)CGA>TGA	p.R51*	HS2ST1_uc001dmc.3_Nonsense_Mutation_p.R51*|LOC339524_uc001dme.1_Nonsense_Mutation_p.R12*	NM_012262	NP_036394	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1 isoform	51	Lumenal (Potential).					Golgi membrane|integral to membrane				central_nervous_system(1)	1		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		ACACGAAGTCCGAGAAATTGA	0.418													T	87538643	C	T	87538643	4	4	63	1	0	0	0	0	0	1	0	0	7362	644	23	1	157	1	HS2ST1	1	87538643	Nonsense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3202910	87538643	161711978	85	44818											
BRDT	676	broad.mit.edu	37	chr1	92442712	92442712	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaatcagtggcactgccacCtataaaagaaaatatgccaa	6	9	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:92442712C>A	uc001dok.3	+	6	1080	c.731C>A	c.(730-732)CCT>CAT	p.P244H	BRDT_uc001dol.3_Missense_Mutation_p.P244H|BRDT_uc010osz.1_Missense_Mutation_p.P248H|BRDT_uc009wdf.2_Missense_Mutation_p.P171H|BRDT_uc010ota.1_Missense_Mutation_p.P198H|BRDT_uc010otb.1_Missense_Mutation_p.P198H|BRDT_uc001dom.3_Missense_Mutation_p.P244H	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GCACTGCCACCTATAAAAGAA	0.368													A	92442712	C	A	92442712	3	1	63	1	0	0	0	0	1	0	0	0	1508	681	24	5	749	5	BRDT	1	92442712	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4904069	92442712	156807909	86	44819											
MTF2	22823	broad.mit.edu	37	chr1	93580632	93580633	+	In_Frame_Ins	INS	-	-	CAA													tgtcggcagtgtgtttttgcINSaacaacaacaaaggtatatt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:93580631_93580632G>GCAA	uc009wdj.3	+	4	761_762	c.469_470G>GCAA	c.(469-471)gca>GCAAa	p.A157A	MTF2_uc010oth.2_In_Frame_Ins_p.A55A|MTF2_uc009wdk.3_In_Frame_Ins_p.A157A|MTF2_uc010oti.2_In_Frame_Ins_p.A55A|MTF2_uc001dpi.4_5'UTR|MTF2_uc001dpl.4_In_Frame_Ins_p.A55A	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	Homo sapiens metal response element binding transcription factor 2 (MTF2), transcript variant 1, mRNA.	157						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GTGTGTTTTTGCAACAACAACA	0.342													CAA	93580633	-	CAA	93580632	7	5	63	1	0	1	1	0	0	0	0	0	9923	710	25	0	488	0	MTF2	1	93580632	In_Frame_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1137920	93580632	155669989	87	44820											
MTF2	22823	broad.mit.edu	37	chr1	93602324	93602324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtcttccaagaagagcaCtccagactcagaactcagaa	8	12	3	5			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:93602324C>T	uc009wdj.2	+	15	1814	c.1522C>T	c.(1522-1524)CTC>TTC	p.L508F	MTF2_uc010oth.1_Missense_Mutation_p.L406F|MTF2_uc009wdk.2_Missense_Mutation_p.L451F|MTF2_uc001dpi.3_Missense_Mutation_p.L235F|MTF2_uc010oti.1_Missense_Mutation_p.L406F|MTF2_uc001dpj.3_Missense_Mutation_p.L406F|MTF2_uc001dpl.3_Missense_Mutation_p.L406F|MTF2_uc001dpm.3_Missense_Mutation_p.L177F	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription	508						nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		AAGAAGAGCACTCCAGACTCA	0.408													T	93602324	C	T	93602324	3	4	63	1	0	0	0	0	1	0	0	0	9923	565	20	4	1580	4	MTF2	1	93602324	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	21692	93602324	155648297	88	44821											
BCAR3	8412	broad.mit.edu	37	chr1	94054660	94054660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgggcctggcctggggagGtgccataatgctcctccagg	15	14	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:94054660G>A	uc001dpz.2	-	5	1078	c.803C>T	c.(802-804)ACC>ATC	p.T268I	BCAR3_uc001dqa.2_Missense_Mutation_p.T268I|BCAR3_uc001dqb.2_Missense_Mutation_p.T268I|BCAR3_uc001dpy.2_Missense_Mutation_p.T177I|uc009wdn.2_5'Flank	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	268					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GCCTGGGGAGGTGCCATAATG	0.677													A	94054660	G	A	94054660	3	1	63	1	0	0	0	0	1	0	0	0	1349	1261	44	4	1706	4	BCAR3	1	94054660	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	452336	94054660	155195961	89	44822											
LPPR4	9890	broad.mit.edu	37	chr1	99767288	99767288	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccatttttaagatgtacttCaattccacattaacggattc	4	9	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:99767288C>A	uc001dse.2	+	6	907	c.801C>A	c.(799-801)TTC>TTA	p.F267L	LPPR4_uc010oue.1_Intron	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	267	Helical; (Potential).						phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGATGTACTTCAATTCCACAT	0.328													A	99767288	C	A	99767288	3	1	63	1	0	0	0	0	1	0	0	0	8927	825	29	5	823	5	LPPR4	1	99767288	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	5712628	99767288	149483333	90	44823											
SASS6	163786	broad.mit.edu	37	chr1	100551134	100551134	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgagtccgcgtaaaggaaTgctatcttcccttttcttca	8	11	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:100551134T>C	uc001dsu.2	-	16	1966	c.1825A>G	c.(1825-1827)ATT>GTT	p.I609V	SASS6_uc009wdz.2_Missense_Mutation_p.I442V	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	spindle assembly abnormal protein 6	609					centriole replication	centriole				upper_aerodigestive_tract(1)|ovary(1)	2		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		CGTAAAGGAATGCTATCTTCC	0.313													C	100551134	T	C	100551134	3	2	63	1	0	0	0	0	1	0	0	0	13850	1464	51	3	156	3	SASS6	1	100551134	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	783846	100551134	148699487	91	44824											
CDC14A	8556	broad.mit.edu	37	chr1	100964501	100964501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcttttccataaactccCggctagccagttctctaggg	8	13	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:100964501C>T	uc001dtg.3	+	15	1926	c.1438C>T	c.(1438-1440)CGG>TGG	p.R480W	CDC14A_uc010oui.1_Missense_Mutation_p.R422W|CDC14A_uc001dtf.2_Missense_Mutation_p.R480W|CDC14A_uc009wed.1_Missense_Mutation_p.R187W|CDC14A_uc009wee.2_Missense_Mutation_p.R480W	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN	CDC14 homolog A isoform 1	480					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)	1		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CATAAACTCCCGGCTAGCCAG	0.453													T	100964501	C	T	100964501	3	4	63	1	0	0	0	0	1	0	0	0	3056	643	23	1	1511	1	CDC14A	1	100964501	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	413367	100964501	148286120	92	44825											
CDC14A	8556	broad.mit.edu	37	chr1	100964650	100964650	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaactaccagaaattacccTgagctcaacaataatcagta	4	12	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:100964650T>C	uc001dtg.3	+	15	2075	c.1587T>C	c.(1585-1587)CCT>CCC	p.P529P	CDC14A_uc010oui.1_Silent_p.P471P|CDC14A_uc001dtf.2_Silent_p.P529P|CDC14A_uc009wed.1_Silent_p.P236P|CDC14A_uc009wee.2_Silent_p.P529P	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN	CDC14 homolog A isoform 1	529					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)	1		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		GAAATTACCCTGAGCTCAACA	0.542													C	100964650	T	C	100964650	2	2	63	1	0	0	0	0	0	0	0	1	3056	1567	55	3		3	CDC14A	1	100964650	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	149	100964650	148285971	93	44826											
AKNAD1	254268	broad.mit.edu	37	chr1	109358853	109358853	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtcttctgcaatcgttttAatcatttgatctgtagtttc	7	7	4	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:109358853A>G	uc001dwa.2	-	16	2720	c.2451T>C	c.(2449-2451)ATT>ATC	p.I817I	AKNAD1_uc001dwb.2_RNA	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	817										ovary(3)	3						CAATCGTTTTAATCATTTGAT	0.383													G	109358853	A	G	109358853	2	3	63	1	0	0	0	0	0	0	0	1	464	358	13	3		3	AKNAD1	1	109358853	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	8394203	109358853	139891768	94	44827											
CELSR2	1952	broad.mit.edu	37	chr1	109795502	109795502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtttgtggaagagaacaGccccattgggctagccgtgg	15	8	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:109795502G>A	uc001dxa.3	+	1	2862	c.2801G>A	c.(2800-2802)AGC>AAC	p.S934N		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	934	Extracellular (Potential).|Cadherin 8.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GAAGAGAACAGCCCCATTGGG	0.542													A	109795502	G	A	109795502	3	1	63	1	0	0	0	0	1	0	0	0	3222	971	34	2	2803	2	CELSR2	1	109795502	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	436649	109795502	139455119	95	44828											
MYBPHL	343263	broad.mit.edu	37	chr1	109849545	109849545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggggtggttcagcatcCgctgggctggcttctttcac	14	12	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:109849545C>T	uc001dxk.1	-	1	119	c.69G>A	c.(67-69)GCG>GCA	p.A23A	MYBPHL_uc010ovh.1_Silent_p.A23A|MYBPHL_uc001dxl.2_RNA	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	23										ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GTTCAGCATCCGCTGGGCTGG	0.662													T	109849545	C	T	109849545	2	4	63	1	0	0	0	0	0	0	0	1	10015	639	23	1		1	MYBPHL	1	109849545	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	54043	109849545	139401076	96	44829											
ATXN7L2	127002	broad.mit.edu	37	chr1	110031548	110031548	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcagagctgaaggccaActcccgcaaaggggagtctc	15	11	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:110031548A>G	uc001dxr.2	+	7	878	c.863A>G	c.(862-864)AAC>AGC	p.N288S	ATXN7L2_uc001dxs.2_5'UTR|ATXN7L2_uc001dxt.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	288	SCA7.									ovary(2)	2		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGAAGGCCAACTCCCGCAAA	0.617													G	110031548	A	G	110031548	3	3	63	1	0	0	0	0	1	0	0	0	1217	43	2	3	889	3	ATXN7L2	1	110031548	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	182003	110031548	139219073	97	44830											
AHCYL1	10768	broad.mit.edu	37	chr1	110563414	110563414	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccttacagagctgacagaTgaccaagcaaaatatctggg	9	10	1	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:110563414T>C	uc001dyx.2	+	16	1894	c.1527T>C	c.(1525-1527)GAT>GAC	p.D509D	AHCYL1_uc010ovw.1_Silent_p.D462D|AHCYL1_uc001dyy.2_Silent_p.D462D|AHCYL1_uc010ovx.1_Silent_p.D462D	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	509					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		AGCTGACAGATGACCAAGCAA	0.448													C	110563414	T	C	110563414	2	2	63	1	0	0	0	0	0	0	0	1	410	1461	51	3		3	AHCYL1	1	110563414	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	531866	110563414	138687207	98	44831											
KCNC4	3749	broad.mit.edu	37	chr1	110765721	110765721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcaccagcgtgcacttcCggcgggaggtagagacagag	14	11	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:110765721C>T	uc001dzh.2	+	2	871	c.814C>T	c.(814-816)CGG>TGG	p.R272W	KCNC4_uc001dzf.2_Missense_Mutation_p.R272W|KCNC4_uc009wfr.2_Missense_Mutation_p.R272W|KCNC4_uc001dzg.2_Missense_Mutation_p.R272W|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	272					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGTGCACTTCCGGCGGGAGGT	0.582													T	110765721	C	T	110765721	3	4	63	1	0	0	0	0	1	0	0	0	8017	643	23	1	820	1	KCNC4	1	110765721	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	202307	110765721	138484900	99	44832											
CHIA	27159	broad.mit.edu	37	chr1	111854340	111854340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatactgaatttgcagctcGgtaagtcatggactccatgt	9	8	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:111854340G>A	uc001eas.2	+	3	158	c.55G>A	c.(55-57)GGC>AGC	p.G19S	CHIA_uc001ear.2_Intron|CHIA_uc001eaq.2_5'UTR|CHIA_uc009wgc.2_5'UTR|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_5'UTR|CHIA_uc001eau.2_5'UTR|CHIA_uc009wgd.2_5'UTR	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN	acidic chitinase isoform c	19					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			ovary(1)	1		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TTTGCAGCTCGGTAAGTCATG	0.388													A	111854340	G	A	111854340	3	1	63	1	0	0	0	0	1	0	0	0	3342	1130	39	1	61	1	CHIA	1	111854340	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1088619	111854340	137396281	100	44833											
KCND3	3752	broad.mit.edu	37	chr1	112524322	112524322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctggccgaggagcccttctCggcataaaacatcacagtgg	12	12	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:112524322C>T	uc001ebu.1	-	2	1507	c.1027G>A	c.(1027-1029)GAG>AAG	p.E343K	KCND3_uc001ebv.1_Missense_Mutation_p.E343K	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	343						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GAGCCCTTCTCGGCATAAAAC	0.542													T	112524322	C	T	112524322	3	4	63	1	0	0	0	0	1	0	0	0	8020	893	31	1	968	1	KCND3	1	112524322	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	669982	112524322	136726299	101	44834											
MOV10	4343	broad.mit.edu	37	chr1	113232213	113232213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctcttcccactctgccGgacaccccagtttgctttct	5	18	4	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:113232213G>A	uc001eck.2	+	4	788	c.518G>A	c.(517-519)CGG>CAG	p.R173Q	MOV10_uc001ecl.2_Missense_Mutation_p.R173Q|MOV10_uc001ecn.2_Missense_Mutation_p.R173Q|MOV10_uc001ecm.2_Missense_Mutation_p.R113Q|MOV10_uc009wgj.1_Missense_Mutation_p.R113Q	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	173					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CCACTCTGCCGGACACCCCAG	0.567													A	113232213	G	A	113232213	3	1	63	1	0	0	0	0	1	0	0	0	9718	1116	39	1	528	1	MOV10	1	113232213	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	707891	113232213	136018408	102	44835											
NGF	4803	broad.mit.edu	37	chr1	115829258	115829258	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctatcgccgctgccggggcGctgcgggctctgcgaagggc	18	14	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:115829258G>T	uc001efu.1	-	3	328	c.159C>A	c.(157-159)AGC>AGA	p.S53R		NM_002506	NP_002497	P01138	NGF_HUMAN	nerve growth factor, beta polypeptide precursor	53					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			upper_aerodigestive_tract(2)	2	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CTGCCGGGGCGCTGCGGGCTC	0.622													T	115829258	G	T	115829258	3	4	63	1	0	0	0	0	1	0	0	0	10395	1078	38	5	570	5	NGF	1	115829258	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2597045	115829258	133421363	103	44836											
CD58	965	broad.mit.edu	37	chr1	117078587	117078587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatttagttatttactcacCgctgcttgggatacaggttg	9	8	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:117078587C>T	uc001egm.2	-	3	749	c.628G>A	c.(628-630)GGT>AGT	p.G210S	CD58_uc001egn.2_RNA|CD58_uc010owy.1_Missense_Mutation_p.G210S|CD58_uc001ego.1_Intron|CD58_uc001egp.3_Missense_Mutation_p.G210S	NM_001779	NP_001770	P19256	LFA3_HUMAN	CD58 molecule isoform 1	210	Extracellular (Potential).				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding				0	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		ATTTACTCACCGCTGCTTGGG	0.343													T	117078587	C	T	117078587	3	4	63	1	0	0	0	0	1	0	0	0	3025	666	23	1	144	1	CD58	1	117078587	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1249329	117078587	132172034	104	44837											
PIAS3	10401	broad.mit.edu	37	chr1	145578385	145578385	+	Frame_Shift_Del	DEL	C	C	-													aagcgtgaggtggacatgcaCccccctctgccccagcctgt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:145578384_145578384AC>A	uc001eoc.1	+	1	438	c.347_347AC>A	c.(346-348)cacfs	p.H116fs	PIAS3_uc010oyy.1_Frame_Shift_Del_p.H107fs|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	116	PINIT.|Pro-rich.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGGACATGCACCCCCCTCTG	0.627													-	145578385	C	-	145578385	7	5	63	1	0	1	0	1	0	0	0	0	11877	506	18	0	354	0	PIAS3	1	145578385	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	28499798	145578385	103672236	105	44838											
OTUD7B	56957	broad.mit.edu	37	chr1	149916627	149916627	+	Frame_Shift_Del	DEL	T	T	-													ccttccagctcttcagtgagTttttcttcttcttctccagt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:149916626_149916626GT>G	uc001etn.3	-	11	2018	c.1662_1662AC>C	c.(1660-1662)aacfs	p.N554fs		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	554					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TCTTCAGTGAGTTTTTCTTCT	0.592													-	149916627	T	-	149916627	7	5	63	1	0	1	0	1	0	0	0	0	11319	1725	60	0	874	0	OTUD7B	1	149916627	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	4338242	149916627	99333994	106	44839											
RPRD2	23248	broad.mit.edu	37	chr1	150445612	150445612	+	Frame_Shift_Del	DEL	C	C	-													ggcagcaacagcagcagtggCccccccttgggtccctcaca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:150445611_150445611GC>G	uc009wlr.3	+	10	4388	c.4187_4187GC>G	c.(4186-4188)ggcfs	p.G1396fs	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Frame_Shift_Del_p.G1370fs	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	1396	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGCAGCAGTGGCCCCCCCTTG	0.617													-	150445612	C	-	150445612	7	5	63	1	0	1	0	1	0	0	0	0	13617	726	26	0	4230	0	RPRD2	1	150445612	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	528985	150445612	98805009	107	44840											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150526141	150526141	+	Frame_Shift_Del	DEL	C	C	-													actgtctgtccacaccccatCcccccaagcagaacctctaa					rs145240194		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:150526141delC	uc001eux.2	+	6	910	c.674delC	c.(673-675)TCCfs	p.S225fs	ADAMTSL4_uc001euw.2_Frame_Shift_Del_p.S225fs|ADAMTSL4_uc009wlw.2_Frame_Shift_Del_p.S225fs|ADAMTSL4_uc010pcg.1_Frame_Shift_Del_p.S225fs	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	225					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CACACCCCATCCCCCCAAGCA	0.622													-	150526141	C	-	150526141	7	5	63	1	0	1	0	1	0	0	0	0	277	855	30	0	688	0	ADAMTSL4	1	150526141	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	80529	150526141	98724480	108	44841											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150529726	150529726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccccagatgcccgccccGccccatcccaggacacccct	6	24	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:150529726G>A	uc001eux.2	+	12	2198	c.1962G>A	c.(1960-1962)CCG>CCA	p.P654P	ADAMTSL4_uc001euw.2_Silent_p.P654P|ADAMTSL4_uc009wlw.2_Silent_p.P677P|ADAMTSL4_uc010pcg.1_Intron|ADAMTSL4_uc009wlx.2_5'Flank	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	654	Pro-rich.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGCCCGCCCCGCCCCATCCCA	0.672													A	150529726	G	A	150529726	2	1	63	1	0	0	0	0	0	0	0	1	277	1074	38	1		1	ADAMTSL4	1	150529726	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3585	150529726	98720895	109	44842											
SETDB1	9869	broad.mit.edu	37	chr1	150923259	150923259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccttgtggtctctgccttCggacaatgcaggagatagaa	11	10	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:150923259C>T	uc001evu.2	+	13	2096	c.1906C>T	c.(1906-1908)CGG>TGG	p.R636W	SETDB1_uc009wmf.2_Missense_Mutation_p.R637W|SETDB1_uc001evv.2_Missense_Mutation_p.R636W|SETDB1_uc009wmg.1_Missense_Mutation_p.R636W	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	636	MBD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTCTGCCTTCGGACAATGCA	0.493													T	150923259	C	T	150923259	3	4	63	1	0	0	0	0	1	0	0	0	14138	875	31	1	1952	1	SETDB1	1	150923259	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	393533	150923259	98327362	110	44843											
SETDB1	9869	broad.mit.edu	37	chr1	150931769	150931769	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacacagaacaagggctggGgtatccgctgcttggatgac	14	9	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:150931769G>T	uc001evu.2	+	15	2636	c.2446G>T	c.(2446-2448)GGT>TGT	p.G816C	SETDB1_uc001evv.2_Missense_Mutation_p.G816C|SETDB1_uc009wmg.1_Missense_Mutation_p.G816C	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	816	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAAGGGCTGGGGTATCCGCTG	0.458													T	150931769	G	T	150931769	3	4	63	1	0	0	0	0	1	0	0	0	14138	1232	43	5	2500	5	SETDB1	1	150931769	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	8510	150931769	98318852	111	44844											
PI4KB	5298	broad.mit.edu	37	chr1	151280093	151280093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctgtgtgtggggtacaCggaccacgtggtggtcaaag	16	9	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:151280093C>T	uc001ext.2	-	4	1554	c.1139G>A	c.(1138-1140)CGT>CAT	p.R380H	PI4KB_uc001exr.2_Missense_Mutation_p.R392H|PI4KB_uc001exs.2_Missense_Mutation_p.R365H|PI4KB_uc001exu.2_Missense_Mutation_p.R365H|PI4KB_uc010pcw.1_Missense_Mutation_p.R48H	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	catalytic phosphatidylinositol 4-kinase beta	380					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			ovary(2)|skin(2)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTGGGGTACACGGACCACGTG	0.572													T	151280093	C	T	151280093	3	4	63	1	0	0	0	0	1	0	0	0	11874	536	19	1	1347	1	PI4KB	1	151280093	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	348324	151280093	97970528	112	44845											
RFX5	5993	broad.mit.edu	37	chr1	151314788	151314789	+	Frame_Shift_Ins	INS	-	-	T													ttgccaaaggaaaagcctccINSttttggcttctgctgccctt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:151314788_151314789insT	uc001exv.1	-	11	1938_1939	c.1724_1725insA	c.(1723-1725)AAGfs	p.K575fs	RFX5_uc001exw.1_Frame_Shift_Ins_p.K575fs|RFX5_uc009wmr.1_Frame_Shift_Ins_p.K575fs|RFX5_uc010pcx.1_Frame_Shift_Ins_p.K535fs	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	575						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAAAAGCCTCCTTTTGGCTTCT	0.49													T	151314789	-	T	151314788	7	5	63	1	0	1	1	0	0	0	0	0	13266	680	24	0	129	0	RFX5	1	151314788	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	34695	151314788	97935833	113	44846	161	2									
RFX5	5993	broad.mit.edu	37	chr1	151314789	151314790	+	Frame_Shift_Ins	INS	-	-	T													tgccaaaggaaaagcctcctINStttggcttctgctgcccttg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:151314788_151314789C>CT	uc001exv.1	-	10	1938_1939	c.1724_1725G>AG	c.(1723-1725)aagfs	p.K575fs	RFX5_uc001exw.1_Frame_Shift_Ins_p.K575fs|RFX5_uc010pcx.1_Frame_Shift_Ins_p.K535fs	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.	575						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAAAAGCCTCCTTTTGGCTTCT	0.49													T	151314790	-	T	151314789	7	5	63	1	0	1	1	0	0	0	0	0	13266	1609	56	0	130	0	RFX5	1	151314789	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1	151314789	97935832	114	44847	161	2									
RFX5	5993	broad.mit.edu	37	chr1	151317583	151317583	+	Frame_Shift_Del	DEL	T	T	-													aaactactatcaaacctaccTtttgtctccagtggtgggtc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:151317583delT	uc001exv.1	-	5	446	c.232delA	c.(232-234)AGCfs	p.S78fs	RFX5_uc001exw.1_Frame_Shift_Del_p.S78fs|RFX5_uc009wmr.1_Frame_Shift_Del_p.S78fs|RFX5_uc010pcx.1_Frame_Shift_Del_p.R78fs	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	78	N-terminal domain.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAAACCTACCTTTTGTCTCCA	0.448													-	151317583	T	-	151317583	7	5	63	1	0	1	0	1	0	0	0	0	13266	1623	56	0	1646	0	RFX5	1	151317583	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	2794	151317583	97933038	115	44848											
TCHH	7062	broad.mit.edu	37	chr1	152083177	152083177	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgctcccgccgctggagcTgctcctcttcctccaggaac	9	19	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:152083177T>C	uc001ezp.2	-	2	2516	c.2516A>G	c.(2515-2517)CAG>CGG	p.Q839R	TCHH_uc009wne.1_Missense_Mutation_p.Q839R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	839					keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGCTGGAGCTGCTCCTCTTC	0.672													C	152083177	T	C	152083177	3	2	63	1	0	0	0	0	1	0	0	0	15697	1580	55	3	3319	3	TCHH	1	152083177	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	765594	152083177	97167444	116	44849											
HRNR	388697	broad.mit.edu	37	chr1	152190973	152190973	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaagccagaagagtgaccGgagccagactcatatgggcc	12	12	1	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:152190973G>A	uc001ezt.1	-	3	3208	c.3132C>T	c.(3130-3132)TCC>TCT	p.S1044S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1044	12.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGAGTGACCGGAGCCAGACT	0.582													A	152190973	G	A	152190973	2	1	63	1	0	0	0	0	0	0	0	1	7359	1103	39	1		1	HRNR	1	152190973	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	107796	152190973	97059648	117	44850											
FLG	2312	broad.mit.edu	37	chr1	152280785	152280785	+	Frame_Shift_Del	DEL	T	T	-													tgattgttccttgtcatatgTttttctgcttgcacttctgg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:152280785delT	uc001ezu.1	-	3	6613	c.6577delA	c.(6577-6579)ACAfs	p.T2193fs		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2193	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCATATGTTTTTCTGCTT	0.542									Ichthyosis				-	152280785	T	-	152280785	7	5	63	1	0	1	0	1	0	0	0	0	5922	1725	60	0	5612	0	FLG	1	152280785	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	89812	152280785	96969836	118	44851											
SPRR3	6707	broad.mit.edu	37	chr1	152975733	152975733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtaccaaggtccctgaGccaggttgtaccaaggtccc	12	13	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:152975733G>A	uc001fax.3	+	3	387	c.237G>A	c.(235-237)GAG>GAA	p.E79E	SPRR3_uc001faz.3_Silent_p.E79E|SPRR3_uc001fay.2_Silent_p.E71E	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	79	5.|14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			skin(1)	1	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTCCCTGAGCCAGGTTGTA	0.587													A	152975733	G	A	152975733	2	1	63	1	0	0	0	0	0	0	0	1	15102	962	34	2		2	SPRR3	1	152975733	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	694948	152975733	96274888	119	44852											
HAX1	10456	broad.mit.edu	37	chr1	154247469	154247469	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccccatcctagaaccagagAggacaatggtaagtctggag	11	11	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:154247469A>G	uc001fes.2	+	4	709	c.548A>G	c.(547-549)GAG>GGG	p.E183G	HAX1_uc001fet.2_Missense_Mutation_p.E135G|HAX1_uc010peo.1_Missense_Mutation_p.E191G|HAX1_uc009wou.2_Missense_Mutation_p.E108G|HAX1_uc009wov.2_Missense_Mutation_p.E157G	NM_006118	NP_006109	O00165	HAX1_HUMAN	HCLS1 associated protein X-1 isoform a	183	Involved in CASP9 binding.|Involved in HCLS1 binding.|Involved in GNA13 binding.|Required for localization in sarcoplasmic reticulum (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding				0	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGAACCAGAGAGGACAATGGT	0.433									Kostmann_syndrome				G	154247469	A	G	154247469	3	3	63	1	0	0	0	0	1	0	0	0	6975	304	11	3	562	3	HAX1	1	154247469	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	1271736	154247469	95003152	120	44853											
ASH1L	55870	broad.mit.edu	37	chr1	155491087	155491087	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaagtttgtttctttcActgaaaactgttgctgtgca	8	7	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:155491087A>G	uc009wqq.2	-	2	704	c.224T>C	c.(223-225)GTG>GCG	p.V75A	ASH1L_uc001fkt.2_Missense_Mutation_p.V75A|ASH1L_uc009wqr.1_Missense_Mutation_p.V75A	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	75					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGTTTCTTTCACTGAAAACTG	0.393													G	155491087	A	G	155491087	3	3	63	1	0	0	0	0	1	0	0	0	1041	159	6	3	8778	3	ASH1L	1	155491087	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	1243618	155491087	93759534	121	44854											
GON4L	54856	broad.mit.edu	37	chr1	155722995	155722995	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcgttggcaaatcactcacCtgaaacaggcatctctccct	7	14	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:155722995C>A	uc001flz.2	-	29	5939	c.5842G>T	c.(5842-5844)GCA>TCA	p.A1948S	GON4L_uc001flx.1_5'Flank|GON4L_uc009wrg.1_Intron|GON4L_uc001fly.1_Nonsense_Mutation_p.G1948*|GON4L_uc009wrh.1_Nonsense_Mutation_p.G1948*|GON4L_uc001fma.1_Missense_Mutation_p.A1948S	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	1948					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AATCACTCACCTGAAACAGGC	0.542													A	155722995	C	A	155722995	3	1	63	1	0	0	0	0	1	0	0	0	6572	695	24	5	896	5	GON4L	1	155722995	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	231908	155722995	93527626	122	44855											
LMNA	4000	broad.mit.edu	37	chr1	156106016	156106017	+	Frame_Shift_Ins	INS	-	-	C													ctccccaggctacgcctgtcINSccccagccctacctcgcagc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:156106015_156106016T>TC	uc001fni.2	+	6	1417_1418	c.1168_1169T>TC	c.(1168-1170)tccfs	p.S390fs	LMNA_uc001fnf.1_Frame_Shift_Ins_p.S390fs|LMNA_uc001fng.2_Frame_Shift_Ins_p.S390fs|LMNA_uc001fnh.2_Frame_Shift_Ins_p.S390fs|LMNA_uc009wro.1_Frame_Shift_Ins_p.S390fs|LMNA_uc010pgz.1_Frame_Shift_Ins_p.S278fs|LMNA_uc001fnj.2_Frame_Shift_Ins_p.S309fs|LMNA_uc001fnk.2_Frame_Shift_Ins_p.S291fs|LMNA_uc009wrp.3_Frame_Shift_Ins_p.C117fs|LMNA_uc010pha.1_Frame_Shift_Ins_p.S46fs	NM_170707	NP_733821	P02545	LMNA_HUMAN	Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA.	390	Tail.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GCTACGCCTGTCCCCCAGCCCT	0.663									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				C	156106017	-	C	156106016	7	5	63	1	0	1	1	0	0	0	0	0	8848	855	30	0	1195	0	LMNA	1	156106016	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	383021	156106016	93144605	123	44856											
NES	10763	broad.mit.edu	37	chr1	156645010	156645010	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagggctcgtctcgtacctGtacgtggccacctccaggct	11	15	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:156645010G>A	uc001fpq.2	-	2	1039	c.906C>T	c.(904-906)TAC>TAT	p.Y302Y		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	302	Coil 2B.|Rod.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTCGTACCTGTACGTGGCCA	0.617													A	156645010	G	A	156645010	2	1	63	1	0	0	0	0	0	0	0	1	10337	1372	48	4		4	NES	1	156645010	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	538994	156645010	92605611	124	44857											
ISG20L2	81875	broad.mit.edu	37	chr1	156694023	156694024	+	Frame_Shift_Ins	INS	-	-	G													cagtcagccttccggttgagINSgggggggatatgggaggtgt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:156694022_156694023A>AG	uc001fps.1	-	1	1126_1127	c.865_866T>CT	c.(865-867)ctcfs	p.L289fs	ISG20L2_uc001fpt.1_Frame_Shift_Ins_p.L289fs	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	Homo sapiens interferon stimulated exonuclease gene 20kDa-like 2 (ISG20L2), mRNA.	289	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCGGTTGAGGGGGGGGATA	0.559													G	156694024	-	G	156694023	7	5	63	1	0	1	1	0	0	0	0	0	7855	1000	35	0	204	0	ISG20L2	1	156694023	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	49013	156694023	92556598	125	44858											
FCRL4	83417	broad.mit.edu	37	chr1	157557085	157557085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgcacatggatctgtagCgagggactgtgcttgtggat	15	8	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:157557085C>T	uc001fqw.2	-	5	964	c.828G>A	c.(826-828)TCG>TCA	p.S276S	FCRL4_uc010phy.1_RNA	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	276	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)|skin(1)	4	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GGATCTGTAGCGAGGGACTGT	0.557													T	157557085	C	T	157557085	2	4	63	1	0	0	0	0	0	0	0	1	5797	755	27	1		1	FCRL4	1	157557085	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	863062	157557085	91693536	126	44859											
OR10R2	343406	broad.mit.edu	37	chr1	158450149	158450149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttatgagctggcaggtgtGtggaaaactggcagctgcct	14	8	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:158450149G>A	uc010pik.1	+	1	482	c.482G>A	c.(481-483)TGT>TAT	p.C161Y	uc001fso.1_RNA	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	161	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)					TGGCAGGTGTGTGGAAAACTG	0.488													A	158450149	G	A	158450149	3	1	63	1	0	0	0	0	1	0	0	0	10917	1377	48	4	484	4	OR10R2	1	158450149	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	893064	158450149	90800472	127	44860											
OR6K3	391114	broad.mit.edu	37	chr1	158687866	158687866	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagctgagggaatccagtgaAgataaattcagtcactgttg	11	6	2	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:158687866A>T	uc010pip.1	-	1	88	c.88T>A	c.(88-90)TTC>ATC	p.F30I		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	30	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					AATCCAGTGAAGATAAATTCA	0.388													T	158687866	A	T	158687866	3	4	63	1	0	0	0	0	1	0	0	0	11203	72	3	5	909	5	OR6K3	1	158687866	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	237717	158687866	90562755	128	44861											
OR6N2	81442	broad.mit.edu	37	chr1	158746767	158746768	+	Frame_Shift_Ins	INS	-	-	T													cagcacagccccaatgatccINSttgcataagaaatcatgata							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:158746767_158746768insT	uc010pir.1	-	1	658_659	c.658_659insA	c.(658-660)AGGfs	p.R220fs		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	220	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)					CCCAATGATCCTTGCATAAGAA	0.421													T	158746768	-	T	158746767	7	5	63	1	0	1	1	0	0	0	0	0	11207	681	24	0	297	0	OR6N2	1	158746767	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	58901	158746767	90503854	129	44862	162	2									
OR6N2	81442	broad.mit.edu	37	chr1	158746768	158746769	+	Frame_Shift_Ins	INS	-	-	T													agcacagccccaatgatcctINStgcataagaaatcatgataa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:158746767_158746768C>CT	uc010pir.2	-	0	658_659	c.658_659G>AG	c.(658-660)aggfs	p.R220fs		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CCCAATGATCCTTGCATAAGAA	0.421													T	158746769	-	T	158746768	7	5	63	1	0	1	1	0	0	0	0	0	11207	1608	56	0	298	0	OR6N2	1	158746768	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1	158746768	90503853	130	44863	162	2									
PYHIN1	149628	broad.mit.edu	37	chr1	158914700	158914700	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccagagaagccatgactcCaggagcatggcactacccca	9	14	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:158914700C>T	uc001ftb.2	+	7	1472	c.1227C>T	c.(1225-1227)TCC>TCT	p.S409S	PYHIN1_uc001ftc.2_Silent_p.S400S|PYHIN1_uc001ftd.2_Silent_p.S409S|PYHIN1_uc001fte.2_Silent_p.S400S	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	409					cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)					GCCATGACTCCAGGAGCATGG	0.403													T	158914700	C	T	158914700	2	4	63	1	0	0	0	0	0	0	0	1	12865	581	21	4		4	PYHIN1	1	158914700	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	167932	158914700	90335921	131	44864											
CADM3	57863	broad.mit.edu	37	chr1	159163282	159163282	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagacacagccaccctaaActgtcagtcttctgggagca	8	12	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:159163282A>G	uc001ftl.2	+	4	594	c.452A>G	c.(451-453)AAC>AGC	p.N151S	CADM3_uc009wsx.1_Missense_Mutation_p.N185S|CADM3_uc009wsy.1_Missense_Mutation_p.N151S|CADM3_uc001ftk.2_Missense_Mutation_p.N185S	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	151	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					GCCACCCTAAACTGTCAGTCT	0.527													G	159163282	A	G	159163282	3	3	63	1	0	0	0	0	1	0	0	0	2568	43	2	3	572	3	CADM3	1	159163282	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	248582	159163282	90087339	132	44865											
DCAF8	50717	broad.mit.edu	37	chr1	160209863	160209863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcttgcgctgtacacggCgccgaggctgctcttcttcc	11	17	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:160209863C>T	uc001fvo.2	-	4	659	c.347G>A	c.(346-348)CGC>CAC	p.R116H	DCAF8_uc001fvn.2_Missense_Mutation_p.R116H|DCAF8_uc009wth.2_Missense_Mutation_p.R116H|DCAF8_uc010pjb.1_Missense_Mutation_p.R116H|DCAF8_uc010pjc.1_Missense_Mutation_p.R270H|DCAF8_uc001fvq.3_Missense_Mutation_p.R116H|DCAF8_uc001fvp.3_Missense_Mutation_p.R116H|uc010pjd.1_3'UTR	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	116						CUL4 RING ubiquitin ligase complex	protein binding			skin(2)	2						CTGTACACGGCGCCGAGGCTG	0.448													T	160209863	C	T	160209863	3	4	63	1	0	0	0	0	1	0	0	0	4276	768	27	1	1490	1	DCAF8	1	160209863	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1046581	160209863	89040758	133	44866											
ARHGAP30	257106	broad.mit.edu	37	chr1	161018410	161018410	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaccccttctccctctgtcCtttgtcctcatcctctctga	4	18	4	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:161018410C>A	uc001fxl.2	-	12	2747	c.2401G>T	c.(2401-2403)GGA>TGA	p.G801*	USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Intron|ARHGAP30_uc001fxm.2_Nonsense_Mutation_p.G647*|ARHGAP30_uc009wtx.2_Nonsense_Mutation_p.G474*	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	801	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCCCTCTGTCCTTTGTCCTCA	0.527													A	161018410	C	A	161018410	4	1	63	1	0	0	0	0	0	1	0	0	879	690	24	5	908	5	ARHGAP30	1	161018410	Nonsense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	808547	161018410	88232211	134	44867											
NDUFS2	4720	broad.mit.edu	37	chr1	161176356	161176358	+	In_Frame_Del	DEL	AGA	AGA	-													gctcctgcaccgaggcactgAgaagctcattgaatacaaga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:161176356_161176358delAGA	uc001fyv.2	+	4	810_812	c.362_364delAGA	c.(361-366)GAGAAG>GAG	p.K122del	NDUFS2_uc010pki.1_In_Frame_Del_p.K24del|NDUFS2_uc001fyw.2_In_Frame_Del_p.K122del|NDUFS2_uc010pkj.1_In_Frame_Del_p.K71del|NDUFS2_uc001fyx.2_In_Frame_Del_p.K122del|NDUFS2_uc001fyy.1_In_Frame_Del_p.K71del	NM_004550	NP_004541	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2	122					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			skin(1)	1	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	CGAGGCACTGAGAAGCTCATTGA	0.562													-	161176358	AGA	-	161176356	7	5	63	1	0	1	0	1	0	0	0	0	10292	304	11	0	372	0	NDUFS2	1	161176356	In_Frame_Del	DEL	AGA	TCGA-BR-8078-01A-11D-2340-08	157946	161176356	88074265	135	44868											
TOMM40L	84134	broad.mit.edu	37	chr1	161196288	161196288	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctggactaaaatggggaaCacattgggcctggcaccaat	11	10	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:161196288C>T	uc001fzd.2	+	2	238	c.9C>T	c.(7-9)AAC>AAT	p.N3N	APOA2_uc001fzc.1_5'Flank|TOMM40L_uc010pkk.1_RNA|TOMM40L_uc010pkl.1_Silent_p.N3N|TOMM40L_uc009wue.2_5'UTR|TOMM40L_uc009wuf.1_RNA|TOMM40L_uc001fze.2_Silent_p.N3N	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40	3					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(1)	1	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AAATGGGGAACACATTGGGCC	0.622													T	161196288	C	T	161196288	2	4	63	1	0	0	0	0	0	0	0	1	16356	477	17	4		4	TOMM40L	1	161196288	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	19932	161196288	88054333	136	44869											
HSPA6	3310	broad.mit.edu	37	chr1	161495033	161495033	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcggggcgcgggagagcgCaacgtgctcatttttgacct	16	11	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:161495033C>T	uc001gap.2	+	2	1245	c.585C>T	c.(583-585)CGC>CGT	p.R195R	HSPA6_uc001gaq.2_Silent_p.R195R	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	195					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CGGGAGAGCGCAACGTGCTCA	0.627													T	161495033	C	T	161495033	2	4	63	1	0	0	0	0	0	0	0	1	7415	697	25	2		2	HSPA6	1	161495033	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	298745	161495033	87755588	137	44870											
NUF2	83540	broad.mit.edu	37	chr1	163313613	163313613	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccagagaagttaaagaatTataaagaaaaaatgaaagat	7	3	0	5			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:163313613T>C	uc001gcq.1	+	10	1060	c.760T>C	c.(760-762)TAT>CAT	p.Y254H	NUF2_uc001gcp.2_Missense_Mutation_p.Y254H|NUF2_uc001gcr.1_Missense_Mutation_p.Y254H|NUF2_uc009wvc.1_Missense_Mutation_p.Y254H	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	254	Interaction with the N-terminus of NDC80.|Potential.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			ovary(3)|skin(1)	4	all_hematologic(923;0.101)					GTTAAAGAATTATAAAGAAAA	0.279													C	163313613	T	C	163313613	3	2	63	1	0	0	0	0	1	0	0	0	10747	1754	61	3	794	3	NUF2	1	163313613	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1818580	163313613	85937008	138	44871											
RCSD1	92241	broad.mit.edu	37	chr1	167654711	167654711	+	Frame_Shift_Del	DEL	C	C	-													ccctgttccctccccctgttCccccccaaggtagacctggg					rs144007158	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:167654711delC	uc001gem.2	+	3	349	c.162delC	c.(160-162)TTCfs	p.F54fs	RCSD1_uc010pli.1_Intron	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	54										ovary(2)|central_nervous_system(2)|skin(1)	5	all_hematologic(923;0.215)					TCCCCCTGTTCCCCCCCAAGG	0.557													-	167654711	C	-	167654711	7	5	63	1	0	1	0	1	0	0	0	0	13185	854	30	0	172	0	RCSD1	1	167654711	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	4341098	167654711	81595910	139	44872											
DCAF6	55827	broad.mit.edu	37	chr1	167962538	167962538	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttaataataagtcctgcAgagtgacatctctgtgttac	7	8	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:167962538A>C	uc001gew.2	+	7	1005	c.763A>C	c.(763-765)AGA>CGA	p.R255R	DCAF6_uc001gev.2_Silent_p.R255R|DCAF6_uc001gex.2_Silent_p.R255R|DCAF6_uc010plk.1_Silent_p.R224R|DCAF6_uc001gey.2_Silent_p.R108R	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform b	255	WD 5.				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						TAAGTCCTGCAGAGTGACATC	0.383													C	167962538	A	C	167962538	2	2	63	1	0	0	0	0	0	0	0	1	4274	180	7	5		5	DCAF6	1	167962538	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	307827	167962538	81288083	140	44873											
GPR161	23432	broad.mit.edu	37	chr1	168054869	168054869	+	Frame_Shift_Del	DEL	C	C	-													ctcggcggcccccgaagccgCcccccgggacagtccgtgct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:168054868_168054868GC>G	uc010pln.2	-	6	2085	c.1551_1551GC>C	c.(1549-1551)ggcfs	p.G517fs	GPR161_uc001gfb.3_Frame_Shift_Del_p.G365fs|GPR161_uc001gfc.3_Frame_Shift_Del_p.G497fs|GPR161_uc010pll.2_Frame_Shift_Del_p.G407fs|GPR161_uc010plm.2_Frame_Shift_Del_p.G383fs|GPR161_uc009wvo.3_Frame_Shift_Del_p.G514fs|GPR161_uc001gfd.3_Frame_Shift_Del_p.G497fs	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	497					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCCCGAAGCCGCCCCCCGGGA	0.582													-	168054869	C	-	168054869	7	5	63	1	0	1	0	1	0	0	0	0	6665	739	26	0	103	0	GPR161	1	168054869	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	92331	168054869	81195752	141	44874											
SELP	6403	broad.mit.edu	37	chr1	169586506	169586506	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtagtagggtaggacctTattgaggtaatcaatttcat	11	5	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:169586506T>C	uc001ggi.3	-	3	306	c.241A>G	c.(241-243)AAG>GAG	p.K81E	SELP_uc001ggh.2_Translation_Start_Site|SELP_uc009wvr.2_Missense_Mutation_p.K81E	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	81	Extracellular (Potential).|C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GGTAGGACCTTATTGAGGTAA	0.433													C	169586506	T	C	169586506	3	2	63	1	0	0	0	0	1	0	0	0	14019	1763	61	3	2307	3	SELP	1	169586506	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1531637	169586506	79664115	142	44875											
FMO4	2329	broad.mit.edu	37	chr1	171300894	171300894	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacactggaggagacattgcTgtggaactcagtcgaacggc	13	9	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:171300894T>G	uc001gho.2	+	6	817	c.600T>G	c.(598-600)GCT>GCG	p.A200A		NM_002022	NP_002013	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	200					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			kidney(2)|skin(1)	3	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GAGACATTGCTGTGGAACTCA	0.463													G	171300894	T	G	171300894	2	3	63	1	0	0	0	0	0	0	0	1	5957	1567	55	5		5	FMO4	1	171300894	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1714388	171300894	77949727	143	44876											
BAT2L2	23215	broad.mit.edu	37	chr1	171504603	171504603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactagacaagacagcaatcGcagtgaaaaggaagccacac	9	11	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:171504603G>A	uc010pmg.1	+	13	2170	c.1904G>A	c.(1903-1905)CGC>CAC	p.R635H		NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	635	Glu-rich.						protein C-terminus binding				0						GACAGCAATCGCAGTGAAAAG	0.433													A	171504603	G	A	171504603	3	1	63	1	0	0	0	0	1	0	0	0	1321	1087	38	1	1950	1	BAT2L2	1	171504603	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	203709	171504603	77746018	144	44877											
BAT2L2	23215	broad.mit.edu	37	chr1	171560757	171560757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagaggttcttcagtccaCgcaacggttcttctctgaac	9	12	4	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:171560757C>T	uc010pmg.1	+	34	8491	c.8225C>T	c.(8224-8226)ACG>ATG	p.T2742M	BAT2L2_uc010pmh.1_Missense_Mutation_p.T1654M|BAT2L2_uc010pmi.1_Missense_Mutation_p.T658M|BAT2L2_uc010pmj.1_Missense_Mutation_p.T274M	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							protein C-terminus binding				0						CTTCAGTCCACGCAACGGTTC	0.438													T	171560757	C	T	171560757	3	4	63	1	0	0	0	0	1	0	0	0	1321	536	19	1	8247	1	BAT2L2	1	171560757	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	56154	171560757	77689864	145	44878											
GPR52	9293	broad.mit.edu	37	chr1	174418046	174418046	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgtcgctacgccatggTtttgtttaggataaccagtg	11	9	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:174418046T>G	uc001gka.1	+	1	835	c.797T>G	c.(796-798)GTT>GGT	p.V266G	RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron|uc010pmu.1_RNA	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	266	Helical; Name=6; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1						TACGCCATGGTTTTGTTTAGG	0.463													G	174418046	T	G	174418046	3	3	63	1	0	0	0	0	1	0	0	0	6698	1725	60	5	799	5	GPR52	1	174418046	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	2857289	174418046	74832575	146	44879											
TDRD5	163589	broad.mit.edu	37	chr1	179600006	179600006	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgttgagttcaggaaaggAcaccaagacttactagtgtt	10	7	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:179600006A>G	uc001gnf.1	+	7	1327	c.1077A>G	c.(1075-1077)GGA>GGG	p.G359G	TDRD5_uc010pnp.1_Silent_p.G359G|TDRD5_uc001gnh.1_5'UTR	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	359	Lotus/OST-HTH 3.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|skin(2)|central_nervous_system(1)	5						TCAGGAAAGGACACCAAGACT	0.393													G	179600006	A	G	179600006	2	3	63	1	0	0	0	0	0	0	0	1	15730	262	10	3		3	TDRD5	1	179600006	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	5181960	179600006	69650615	147	44880											
QSOX1	5768	broad.mit.edu	37	chr1	180155204	180155204	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagctccaagatctacatgGctgacctggaatctgcactg	9	12	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:180155204G>T	uc001gnz.2	+	8	979	c.904G>T	c.(904-906)GCT>TCT	p.A302S	QSOX1_uc001gny.2_Missense_Mutation_p.A302S|QSOX1_uc001goa.2_Missense_Mutation_p.A302S	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	302					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						GATCTACATGGCTGACCTGGA	0.557													T	180155204	G	T	180155204	3	4	63	1	0	0	0	0	1	0	0	0	12883	1203	42	5	934	5	QSOX1	1	180155204	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	555198	180155204	69095417	148	44881											
LAMC1	3915	broad.mit.edu	37	chr1	183109589	183109590	+	Frame_Shift_Del	DEL	CT	CT	-													aatgccagaaaagccaaaaaCtctgttactagcctcctcag							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:183109589_183109590delCT	uc001gpy.3	+	27	4781_4782	c.4524_4525delCT	c.(4522-4527)AACTCTfs	p.N1508fs		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	1508_1509	Potential.|Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGCCAAAAACTCTGTTACTAG	0.431													-	183109590	CT	-	183109589	7	5	63	1	0	1	0	1	0	0	0	0	8614	564	20	0	4630	0	LAMC1	1	183109589	Frame_Shift_Del	DEL	CT	TCGA-BR-8078-01A-11D-2340-08	2954385	183109589	66141032	149	44882											
GLT25D2	23127	broad.mit.edu	37	chr1	183938468	183938468	+	Frame_Shift_Del	DEL	G	G	-													tccaggtgtagtcctggtgtGgggggtagaaagtcagcttg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:183938467_183938467TG>T	uc001gqr.3	-	4	1140	c.768_768CA>A	c.(766-768)ccafs	p.P256fs	GLT25D2_uc010poj.1_Frame_Shift_Del_p.P256fs|GLT25D2_uc001gqs.3_Frame_Shift_Del_p.P136fs	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA.	256					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2)	31						AGTCCTGGTGTGGGGGGTAGA	0.532													-	183938468	G	-	183938468	7	5	63	1	0	1	0	1	0	0	0	0	6467	1348	47	0	1145	0	GLT25D2	1	183938468	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	828879	183938468	65312153	150	44883											
HMCN1	83872	broad.mit.edu	37	chr1	186107063	186107063	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggcggccatgtgaagggaAtgctgtggaaataattatgt	15	4	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:186107063A>G	uc001grq.1	+	89	14112	c.13883A>G	c.(13882-13884)AAT>AGT	p.N4628S	HMCN1_uc001grs.1_Missense_Mutation_p.N197S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4628	TSP type-1 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TGTGAAGGGAATGCTGTGGAA	0.458													G	186107063	A	G	186107063	3	3	63	1	0	0	0	0	1	0	0	0	7220	101	4	3	14237	3	HMCN1	1	186107063	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	2168595	186107063	63143558	151	44884											
PLA2G4A	5321	broad.mit.edu	37	chr1	186908213	186908214	+	Frame_Shift_Ins	INS	-	-	A													gattaatgaagaactaatgaINSaaaatgttagccacaatccc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:186908212_186908213G>GA	uc001gsc.3	+	8	973_974	c.768_769G>GA	c.(766-771)atgaaafs	p.M256fs	PLA2G4A_uc010pos.2_Frame_Shift_Ins_p.M196fs	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	256	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	AAGAACTAATGAAAAATGTTAG	0.371													A	186908214	-	A	186908213	7	5	63	1	0	1	1	0	0	0	0	0	12001	247	9	0	799	0	PLA2G4A	1	186908213	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	801150	186908213	62342408	152	44885											
ZBTB41	360023	broad.mit.edu	37	chr1	197147552	197147552	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggttttacttacctataCgaacttccatgacgaaaact	5	9	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:197147552C>T	uc001gtx.1	-	6	1836	c.1767G>A	c.(1765-1767)TCG>TCA	p.S589S	ZBTB41_uc009wyz.1_RNA	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	589	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						CTTACCTATACGAACTTCCAT	0.299													T	197147552	C	T	197147552	2	4	63	1	0	0	0	0	0	0	0	1	17540	523	19	1		1	ZBTB41	1	197147552	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	10239339	197147552	52103069	153	44886											
PTPRC	5788	broad.mit.edu	37	chr1	198608465	198608465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggacacagaagtatttGtgacaggtaagtacaaggat	11	5	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:198608465G>A	uc001gur.1	+	2	241	c.61G>A	c.(61-63)GTG>ATG	p.V21M	PTPRC_uc001gus.1_Missense_Mutation_p.V21M|PTPRC_uc001gut.1_Missense_Mutation_p.V21M|PTPRC_uc001guq.2_Missense_Mutation_p.V21M|PTPRC_uc009wze.1_Missense_Mutation_p.V23M|PTPRC_uc009wzf.1_Missense_Mutation_p.V23M|PTPRC_uc010ppg.1_Missense_Mutation_p.V23M|PTPRC_uc001guu.1_Missense_Mutation_p.V23M|PTPRC_uc001guv.1_Splice_Site|PTPRC_uc001guw.1_Splice_Site	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	21					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						AGAAGTATTTGTGACAGGTAA	0.328													A	198608465	G	A	198608465	3	1	63	1	0	0	0	0	1	0	0	0	12797	1377	48	4	63	4	PTPRC	1	198608465	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1460913	198608465	50642156	154	44887											
IGFN1	91156	broad.mit.edu	37	chr1	201185742	201185742	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacttggctgaaggtgggCgaggcccccgctgacagcac	15	13	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:201185742C>T	uc001gwc.2	+	5	1708	c.936C>T	c.(934-936)GGC>GGT	p.G312G	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						TGAAGGTGGGCGAGGCCCCCG	0.672													T	201185742	C	T	201185742	2	4	63	1	0	0	0	0	0	0	0	1	7590	755	27	1		1	IGFN1	1	201185742	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2577277	201185742	48064879	155	44888											
IPO9	55705	broad.mit.edu	37	chr1	201816700	201816700	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcatcagtcatcttgaaAcaatatgtggagactcactg	9	9	4	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:201816700A>C	uc001gwz.2	+	3	296	c.246A>C	c.(244-246)AAA>AAC	p.K82N		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	82	Importin N-terminal.				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						TCATCTTGAAACAATATGTGG	0.388													C	201816700	A	C	201816700	3	2	63	1	0	0	0	0	1	0	0	0	7799	40	2	5	256	5	IPO9	1	201816700	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	630958	201816700	47433921	156	44889											
ARL8A	127829	broad.mit.edu	37	chr1	202104870	202104870	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggtttgtccagtaggtTgtggagctcgttcttagagg	15	6	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:202104870T>C	uc001gxk.1	-	4	503	c.337A>G	c.(337-339)AAC>GAC	p.N113D		NM_138795	NP_620150	Q96BM9	ARL8A_HUMAN	ADP-ribosylation factor-like 8A	113					cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GTP binding|GTPase activity			ovary(2)	2						TCCAGTAGGTTGTGGAGCTCG	0.592											OREG0012976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	202104870	T	C	202104870	3	2	63	1	0	0	0	0	1	0	0	0	946	1812	63	3	239	3	ARL8A	1	202104870	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	288170	202104870	47145751	157	44890											
PTPN7	5778	broad.mit.edu	37	chr1	202126901	202126901	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtatcggtccttggaggcGtggccagggatgtccaggtc	16	9	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:202126901G>A	uc001gxm.1	-	4	488	c.357C>T	c.(355-357)CAC>CAT	p.H119H	PTPN7_uc001gxl.1_Silent_p.H158H|PTPN7_uc001gxn.1_Silent_p.H119H|PTPN7_uc010ppv.1_Translation_Start_Site|PTPN7_uc010ppw.1_Silent_p.H67H|PTPN7_uc010ppx.1_Silent_p.H193H|PTPN7_uc010ppy.1_Intron|PTPN7_uc001gxo.1_Silent_p.H71H	NM_002832	NP_002823	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type	119	Tyrosine-protein phosphatase.					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			skin(1)	1						CCTTGGAGGCGTGGCCAGGGA	0.557													A	202126901	G	A	202126901	2	1	63	1	0	0	0	0	0	0	0	1	12793	1136	40	1		1	PTPN7	1	202126901	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	22031	202126901	47123720	158	44891											
LGR6	59352	broad.mit.edu	37	chr1	202287836	202287836	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccatgctgggcctcttccCtgtcacgcccgaggccgtca	10	18	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:202287836C>A	uc001gxu.2	+	18	2405	c.2405C>A	c.(2404-2406)CCT>CAT	p.P802H	LGR6_uc001gxv.2_Missense_Mutation_p.P750H|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.P663H	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	802	Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						GGCCTCTTCCCTGTCACGCCC	0.647													A	202287836	C	A	202287836	3	1	63	1	0	0	0	0	1	0	0	0	8758	681	24	5	2622	5	LGR6	1	202287836	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	160935	202287836	46962785	159	44892											
KDM5B	10765	broad.mit.edu	37	chr1	202715099	202715099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagggtagagatcatccagcGtgtacctatacctggaaata	10	8	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:202715099G>A	uc001gyf.2	-	16	2326	c.2210C>T	c.(2209-2211)ACG>ATG	p.T737M	KDM5B_uc009xag.2_Missense_Mutation_p.T773M|KDM5B_uc001gyg.1_Missense_Mutation_p.T579M	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	737					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						ATCATCCAGCGTGTACCTATA	0.408													A	202715099	G	A	202715099	3	1	63	1	0	0	0	0	1	0	0	0	8134	1145	40	1	2472	1	KDM5B	1	202715099	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	427263	202715099	46535522	160	44893											
MYOG	4656	broad.mit.edu	37	chr1	203054840	203054840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccctcagtgtggccgcccGccgccggtccacggacaccg	12	20	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:203054840G>A	uc001gzd.2	-	1	538	c.250C>T	c.(250-252)CGG>TGG	p.R84W		NM_002479	NP_002470	P15173	MYOG_HUMAN	myogenin	84	Basic motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			skin(2)	2						GTGGCCGCCCGCCGCCGGTCC	0.657													A	203054840	G	A	203054840	3	1	63	1	0	0	0	0	1	0	0	0	10090	1086	38	1	436	1	MYOG	1	203054840	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	339741	203054840	46195781	161	44894											
OPTC	26254	broad.mit.edu	37	chr1	203467905	203467905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcttcctcggaggactgCctacctgtatgcacgcttca	8	15	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:203467905C>T	uc001gzu.1	+	4	583	c.467C>T	c.(466-468)GCC>GTC	p.A156V		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	opticin precursor	156	LRR 1.					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGGAGGACTGCCTACCTGTAT	0.572													T	203467905	C	T	203467905	3	4	63	1	0	0	0	0	1	0	0	0	10888	739	26	2	477	2	OPTC	1	203467905	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	413065	203467905	45782716	162	44895											
PIK3C2B	5287	broad.mit.edu	37	chr1	204438319	204438319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcttctaggatccgatgCtctagcagtttgcccggcaa	9	13	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:204438319C>T	uc001haw.2	-	3	1091	c.612G>A	c.(610-612)GAG>GAA	p.E204E	PIK3C2B_uc010pqv.1_Silent_p.E204E|PIK3C2B_uc001hax.1_Silent_p.E204E|PIK3C2B_uc009xbd.1_RNA	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	204	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGATCCGATGCTCTAGCAGTT	0.547													T	204438319	C	T	204438319	2	4	63	1	0	0	0	0	0	0	0	1	11910	796	28	2		2	PIK3C2B	1	204438319	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	970414	204438319	44812302	163	44896											
LRRN2	10446	broad.mit.edu	37	chr1	204587829	204587829	+	Frame_Shift_Del	DEL	G	G	-													cactggctacctggaggcttGgggggaagcttcgtggggag							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:204587829delG	uc001hbe.1	-	3	1680	c.1292delC	c.(1291-1293)CCAfs	p.P431fs	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Frame_Shift_Del_p.P431fs|LRRN2_uc009xbf.1_Frame_Shift_Del_p.P431fs|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	431	Ig-like C2-type.|Extracellular (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTGGAGGCTTGGGGGGAAGCT	0.657													-	204587829	G	-	204587829	7	5	63	1	0	1	0	1	0	0	0	0	9035	1348	47	0	853	0	LRRN2	1	204587829	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	149510	204587829	44662792	164	44897											
DSTYK	25778	broad.mit.edu	37	chr1	205126463	205126463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgcaggaagcggattcCctccaccacatctagtgcta	10	13	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:205126463C>T	uc001hbw.2	-	10	2354	c.2290G>A	c.(2290-2292)GGA>AGA	p.G764R	DSTYK_uc001hbx.2_Missense_Mutation_p.G764R	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	764	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						AAGCGGATTCCCTCCACCACA	0.478													T	205126463	C	T	205126463	3	4	63	1	0	0	0	0	1	0	0	0	4785	632	22	4	515	4	DSTYK	1	205126463	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	538634	205126463	44124158	165	44898											
CDK18	5129	broad.mit.edu	37	chr1	205495262	205495262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtggccctgaaagagatcCggctggagcacgaggaggga	17	8	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:205495262C>T	uc001hcr.2	+	6	835	c.616C>T	c.(616-618)CGG>TGG	p.R206W	CDK18_uc010pri.1_Missense_Mutation_p.P196L|CDK18_uc001hcp.2_Missense_Mutation_p.R176W|CDK18_uc001hcq.2_Missense_Mutation_p.R176W|CDK18_uc010prj.1_Missense_Mutation_p.R87W|CDK18_uc001hcs.2_Missense_Mutation_p.R87W|CDK18_uc009xbm.1_Missense_Mutation_p.R87W	NM_212503	NP_997668	Q07002	CDK18_HUMAN	PCTAIRE protein kinase 3 isoform a	174	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			stomach(2)	2						GAAAGAGATCCGGCTGGAGCA	0.652													T	205495262	C	T	205495262	3	4	63	1	0	0	0	0	1	0	0	0	3134	643	23	1	634	1	CDK18	1	205495262	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	368799	205495262	43755359	166	44899											
SLC26A9	115019	broad.mit.edu	37	chr1	205892468	205892468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactgagccttaccttggCgatgaccttttgcctgaaga	12	10	0	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:205892468C>T	uc001hdq.2	-	15	1768	c.1654G>A	c.(1654-1656)GCC>ACC	p.A552T	SLC26A9_uc001hdo.2_Missense_Mutation_p.A220T|SLC26A9_uc001hdp.2_Missense_Mutation_p.A552T	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	solute carrier family 26, member 9 isoform a	552	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			ovary(1)|skin(1)	2	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CTTACCTTGGCGATGACCTTT	0.557													T	205892468	C	T	205892468	3	4	63	1	0	0	0	0	1	0	0	0	14524	768	27	1	1045	1	SLC26A9	1	205892468	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	397206	205892468	43358153	167	44900											
AVPR1B	553	broad.mit.edu	37	chr1	206224854	206224854	+	Frame_Shift_Del	DEL	C	C	-													cgctacctggctgtctgtcaCcccctgcgcagcctccagca					rs148831426		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:206224853_206224853AC>A	uc001hds.2	+	0	571	c.413_413AC>A	c.(412-414)cacfs	p.H138fs		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	138					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCTGTCTGTCACCCCCTGCGC	0.627													-	206224854	C	-	206224854	7	5	63	1	0	1	0	1	0	0	0	0	1232	506	18	0	416	0	AVPR1B	1	206224854	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	332386	206224854	43025767	168	44901											
CD55	1604	broad.mit.edu	37	chr1	207500173	207500173	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtggagtgacccgttgccaGagtgcagaggtaagagttaa	15	6	0	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:207500173G>A	uc001hfq.3	+	5	949	c.655G>A	c.(655-657)GAG>AAG	p.E219K	CD55_uc001hfp.3_Missense_Mutation_p.E219K|CD55_uc001hfr.3_Missense_Mutation_p.E219K|CD55_uc010psf.1_RNA|CD55_uc009xcf.2_Missense_Mutation_p.E155K|CD55_uc009xce.2_Missense_Mutation_p.E219K|CD55_uc009xcg.2_5'UTR	NM_000574	NP_000565	P08174	DAF_HUMAN	decay accelerating factor for complement isoform	219	Sushi 3.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			ovary(1)	1					Chloramphenicol(DB00446)	CCCGTTGCCAGAGTGCAGAGG	0.398													A	207500173	G	A	207500173	3	1	63	1	0	0	0	0	1	0	0	0	3024	943	33	4	673	4	CD55	1	207500173	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1275319	207500173	41750448	169	44902											
CR2	1380	broad.mit.edu	37	chr1	207642044	207642044	+	Frame_Shift_Del	DEL	C	C	-													tcgggaaaatggagtgctgtCccccccacatgtgaaggtac							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:207642043_207642043TC>T	uc001hfw.3	+	2	736	c.617_617TC>T	c.(616-618)gtcfs	p.V206fs	CR2_uc001hfv.3_Frame_Shift_Del_p.V206fs|CR2_uc009xch.3_Frame_Shift_Del_p.V206fs|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACA	0.393													-	207642044	C	-	207642044	7	5	63	1	0	1	0	1	0	0	0	0	3842	842	30	0	628	0	CR2	1	207642044	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	141871	207642044	41608577	170	44903											
CR1	1378	broad.mit.edu	37	chr1	207679429	207679429	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctaaggacaggtgcagacGtaagtaactctggagtggga	15	6	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:207679429G>A	uc001hfy.2	+	2	441	c.301_splice	c.e2+1	p.R101_splice	CR1_uc009xcl.1_Splice_Site_p.R101_splice|CR1_uc001hfx.2_Splice_Site_p.R101_splice|CR1_uc010psg.1_Splice_Site_p.R101_splice|CR1_uc009xcj.1_Splice_Site_p.R101_splice|CR1_uc009xck.1_Splice_Site_p.R101_splice	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor						complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						AGGTGCAGACGTAAGTAACTC	0.418													A	207679429	G	A	207679429	5	1	63	1	0	0	0	0	0	0	1	0	3840	1159	40	1	308	1	CR1	1	207679429	Splice_Site	SNP	G	TCGA-BR-8078-01A-11D-2340-08	37385	207679429	41571192	171	44904											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209955413	209955413	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctacagaggcaatgtgggCgatggctcccagtgctgatg	14	11	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:209955413C>T	uc001hho.2	+	17	1866	c.1576C>T	c.(1576-1578)CGA>TGA	p.R526*	TRAF3IP3_uc001hhn.2_Nonsense_Mutation_p.R506*|TRAF3IP3_uc009xcr.2_Nonsense_Mutation_p.R526*	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	526	Cytoplasmic (Potential).					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GCAATGTGGGCGATGGCTCCC	0.483													T	209955413	C	T	209955413	4	4	63	1	0	0	0	0	0	1	0	0	16439	760	27	1	1634	1	TRAF3IP3	1	209955413	Nonsense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2275984	209955413	39295208	172	44905											
USH2A	7399	broad.mit.edu	37	chr1	216462723	216462723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccaacttgtcggaaaaAgtaatccttgcacagctcac	7	12	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:216462723A>G	uc001hku.1	-	11	2257	c.1870T>C	c.(1870-1872)TTT>CTT	p.F624L	USH2A_uc001hkv.2_Missense_Mutation_p.F624L	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	624	Laminin EGF-like 2.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTCGGAAAAAGTAATCCTTG	0.398										HNSCC(13;0.011)			G	216462723	A	G	216462723	3	3	63	1	0	0	0	0	1	0	0	0	17033	72	3	3	14000	3	USH2A	1	216462723	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	6507310	216462723	32787898	173	44906											
DUSP10	11221	broad.mit.edu	37	chr1	221879607	221879607	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcatggtgtccaggtccTgagcatcctgctcattgcca	11	13	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:221879607T>C	uc001hmy.1	-	3	1195	c.1013A>G	c.(1012-1014)CAG>CGG	p.Q338R	DUSP10_uc001hmx.1_5'UTR|DUSP10_uc001hmz.1_5'UTR	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	338					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)		GTCCAGGTCCTGAGCATCCTG	0.557													C	221879607	T	C	221879607	3	2	63	1	0	0	0	0	1	0	0	0	4810	1580	55	3	443	3	DUSP10	1	221879607	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	5416884	221879607	27371014	174	44907											
TP53BP2	7159	broad.mit.edu	37	chr1	223991931	223991931	+	Frame_Shift_Del	DEL	T	T	-													tggcctttaagtgctctcacTttttttagcttagcttcctg					rs146703239		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:223991930_223991930CT>C	uc001hod.3	-	6	1019	c.208_208AG>G	c.(208-210)gtgfs	p.V70fs	TP53BP2_uc010pvb.2_Frame_Shift_Del_p.V199fs|TP53BP2_uc010pva.2_5'Flank	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	193					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AGTGCTCTCACTTTTTTTAGC	0.378													-	223991931	T	-	223991931	7	5	63	1	0	1	0	1	0	0	0	0	16381	1606	56	0	2862	0	TP53BP2	1	223991931	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	2112324	223991931	25258690	175	44908											
ENAH	55740	broad.mit.edu	37	chr1	225707022	225707022	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctcgttcttgtctttctTgcctctcccgatccaggcgt	7	15	5	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:225707022T>C	uc001hpc.1	-	5	1133	c.680A>G	c.(679-681)CAA>CGA	p.Q227R	ENAH_uc001hpd.1_Missense_Mutation_p.Q227R	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	enabled homolog isoform a	227	Potential.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			ovary(1)|skin(1)	2	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TTGTCTTTCTTGCCTCTCCCG	0.338													C	225707022	T	C	225707022	3	2	63	1	0	0	0	0	1	0	0	0	5111	1812	63	3	1139	3	ENAH	1	225707022	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1715091	225707022	23543599	176	44909											
ENAH	55740	broad.mit.edu	37	chr1	225742788	225742788	+	Splice_Site	DEL	A	A	-													ggcacagtttatcacgacctAaaaaataataattctttata							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:225742787_225742787TA>T	uc001hpc.1	-	3	625	c.172_splice	c.e3-1	p.V58_splice	ENAH_uc021pju.1_Splice_Site_p.V45_splice|ENAH_uc001hpd.1_Splice_Site_p.V58_splice	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	Homo sapiens enabled homolog (Drosophila) (ENAH), transcript variant 1, mRNA.	58	WH1.				T cell receptor signaling pathway|axon guidance|intracellular transport	cytosol|filopodium|focal adhesion|lamellipodium|synapse	SH3 domain binding|WW domain binding|actin binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TATCACGACCTAAAAAATAAT	0.363													-	225742788	A	-	225742788	8	5	63	1	0	1	0	1	0	0	1	0	5111	377	13	0		0	ENAH	1	225742788	Splice_Site	DEL	A	TCGA-BR-8078-01A-11D-2340-08	35766	225742788	23507833	177	44910											
TMEM63A	9725	broad.mit.edu	37	chr1	226053597	226053597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccaccccacctgcttacCggaagtggctctccacagtc	7	19	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:226053597C>T	uc001hpm.1	-	10	996	c.746G>A	c.(745-747)CGG>CAG	p.R249Q		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	249						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					ACCTGCTTACCGGAAGTGGCT	0.622													T	226053597	C	T	226053597	3	4	63	1	0	0	0	0	1	0	0	0	16187	666	23	1	1737	1	TMEM63A	1	226053597	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	310809	226053597	23197024	178	44911											
WNT9A	7483	broad.mit.edu	37	chr1	228111954	228111955	+	Frame_Shift_Ins	INS	-	-	C													cttaaggttgtctccgcagcINSccccccactgccaggcctca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:228111953_228111954G>GC	uc001hri.2	-	2	588_589	c.500_501C>GC	c.(499-501)ggcfs	p.G167fs		NM_003395	NP_003386	O14904	WNT9A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA.	167					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent|signal transducer activity	p.G167fs*38(2)|p.C168fs*6(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TGTCTCCGCAGCCCCCCCACTG	0.629													C	228111955	-	C	228111954	7	5	63	1	0	1	1	0	0	0	0	0	17395	739	26	0	605	0	WNT9A	1	228111954	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	2058357	228111954	21138667	179	44912											
OBSCN	84033	broad.mit.edu	37	chr1	228434288	228434289	+	Frame_Shift_Ins	INS	-	-	G													tgaggtgcggactgaggcagINSgggccagtgccacactgagc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:228434287_228434288A>AG	uc009xez.1	+	12	3860_3861	c.3816_3817A>AG	c.(3814-3819)gcagggfs	p.A1272fs	OBSCN_uc001hsn.3_Frame_Shift_Ins_p.A1272fs	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1272	Ig-like 13.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.E1271E(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGACTGAGGCAGGGGCCAGTGC	0.584													G	228434289	-	G	228434288	7	5	63	1	0	1	1	0	0	0	0	0	10812	1000	35	0	3863	0	OBSCN	1	228434288	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	322334	228434288	20816333	180	44913											
OBSCN	84033	broad.mit.edu	37	chr1	228506694	228506694	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggccctggctcggaaacgTcgcatgagccgtgagcccac	14	14	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:228506694T>C	uc009xez.1	+	54	14285	c.14241T>C	c.(14239-14241)CGT>CGC	p.R4747R	OBSCN_uc001hsn.2_Silent_p.R4747R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4747					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CTCGGAAACGTCGCATGAGCC	0.692													C	228506694	T	C	228506694	2	2	63	1	0	0	0	0	0	0	0	1	10812	1654	58	3		3	OBSCN	1	228506694	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	72406	228506694	20743927	181	44914											
OBSCN	84033	broad.mit.edu	37	chr1	228538616	228538616	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgcccagttcacctgcaccAtcgaaggcgccccgtacccg	9	19	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:228538616A>G	uc009xez.1	+	77	18435	c.18391A>G	c.(18391-18393)ATC>GTC	p.I6131V	OBSCN_uc001hsn.2_Missense_Mutation_p.I6131V|OBSCN_uc001hsr.1_Missense_Mutation_p.I760V|OBSCN_uc009xfa.2_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6131	Ig-like 53.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CACCTGCACCATCGAAGGCGC	0.662													G	228538616	A	G	228538616	3	3	63	1	0	0	0	0	1	0	0	0	10812	217	8	3	18693	3	OBSCN	1	228538616	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	31922	228538616	20712005	182	44915											
OBSCN	84033	broad.mit.edu	37	chr1	228556588	228556588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accctgtgagcgaagcctccGacatttggtgagtgggtggc	15	10	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:228556588G>A	uc009xez.1	+	89	19977	c.19933G>A	c.(19933-19935)GAC>AAC	p.D6645N	OBSCN_uc001hsr.1_Missense_Mutation_p.D1274N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6645	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CGAAGCCTCCGACATTTGGTG	0.632													A	228556588	G	A	228556588	3	1	63	1	0	0	0	0	1	0	0	0	10812	1058	37	1	21493	1	OBSCN	1	228556588	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	17972	228556588	20694033	183	44916											
TTC13	79573	broad.mit.edu	37	chr1	231061267	231061267	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtttccagaatacctctGtgtattctcttgtttggcag	9	8	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:231061267G>A	uc001huf.3	-	13	1615	c.1584C>T	c.(1582-1584)CAC>CAT	p.H528H	TTC13_uc009xfi.2_Silent_p.H475H|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Silent_p.H475H|TTC13_uc009xfk.1_Silent_p.H418H	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	528							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		GAATACCTCTGTGTATTCTCT	0.388													A	231061267	G	A	231061267	2	1	63	1	0	0	0	0	0	0	0	1	16677	1368	48	4		4	TTC13	1	231061267	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2504679	231061267	18189354	184	44917											
C1orf131	128061	broad.mit.edu	37	chr1	231362504	231362504	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtctcttttcttcttccTttgctgcctttttttcttta	3	12	4	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:231362504T>G	uc001hun.1	-	5	711	c.674A>C	c.(673-675)AAG>ACG	p.K225T	C1orf131_uc001hul.2_Missense_Mutation_p.K225T|C1orf131_uc001hum.2_Missense_Mutation_p.K224T|C1orf131_uc010pwd.1_Missense_Mutation_p.K224T	NM_152379	NP_689592	Q8NDD1	CA131_HUMAN	hypothetical protein LOC128061	225	Lys-rich.									central_nervous_system(1)|skin(1)	2	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTCTTCTTCCTTTGCTGCCTT	0.398													G	231362504	T	G	231362504	3	3	63	1	0	0	0	0	1	0	0	0	1998	1609	56	5	219	5	C1orf131	1	231362504	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	301237	231362504	17888117	185	44918											
SIPA1L2	57568	broad.mit.edu	37	chr1	232539885	232539885	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcacctagataggacgtgTggtgacagagcagccccagt	12	10	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:232539885T>C	uc001hvg.2	-	18	4960	c.4802A>G	c.(4801-4803)CAC>CGC	p.H1601R	SIPA1L2_uc001hvf.2_Intron	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1601					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATAGGACGTGTGGTGACAGAG	0.433													C	232539885	T	C	232539885	3	2	63	1	0	0	0	0	1	0	0	0	14330	1696	59	3	382	3	SIPA1L2	1	232539885	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1177381	232539885	16710736	186	44919											
SIPA1L2	57568	broad.mit.edu	37	chr1	232574927	232574927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggcggagatggtggacgCgtagccatgcacagaatata	15	9	0	2	rs143814948	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:232574927C>T	uc001hvg.2	-	13	4116	c.3958G>A	c.(3958-3960)GCG>ACG	p.A1320T	SIPA1L2_uc001hvf.2_Missense_Mutation_p.A394T	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1320					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATGGTGGACGCGTAGCCATGC	0.607													T	232574927	C	T	232574927	3	4	63	1	0	0	0	0	1	0	0	0	14330	768	27	1	1246	1	SIPA1L2	1	232574927	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	35042	232574927	16675694	187	44920											
TBCE	6905	broad.mit.edu	37	chr1	235594095	235594095	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggttttagtcctcaaTcaaacaggaataacgtgggc	10	8	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:235594095T>G	uc001hwz.1	+	7	759	c.636T>G	c.(634-636)AAT>AAG	p.N212K	TBCE_uc010pxq.1_RNA|TBCE_uc001hxa.1_Missense_Mutation_p.N212K|TBCE_uc010pxr.1_Missense_Mutation_p.N212K|TBCE_uc001hxb.1_Missense_Mutation_p.N99K	NM_003193	NP_003184	Q15813	TBCE_HUMAN	beta-tubulin cofactor E	212	LRR 3.				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding				0	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			TAGTCCTCAATCAAACAGGAA	0.308													G	235594095	T	G	235594095	3	3	63	1	0	0	0	0	1	0	0	0	15631	1432	50	5	658	5	TBCE	1	235594095	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	3019168	235594095	13656526	188	44921											
HEATR1	55127	broad.mit.edu	37	chr1	236744679	236744679	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taggtccataaaacagaacaGaacttgaataactgaaaaac	6	7	0	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:236744679G>A	uc001hyd.1	-	20	2723	c.2598C>T	c.(2596-2598)TTC>TTT	p.F866F	HEATR1_uc009xgh.1_Silent_p.F109F	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	866					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AAACAGAACAGAACTTGAATA	0.353													A	236744679	G	A	236744679	2	1	63	1	0	0	0	0	0	0	0	1	7027	933	33	4		4	HEATR1	1	236744679	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1150584	236744679	12505942	189	44922											
KMO	8564	broad.mit.edu	37	chr1	241712984	241712984	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccaatgtctcagatactcgAgtggctaccttcacacgtgg	9	12	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:241712984A>T	uc009xgp.2	+	3	197	c.132A>T	c.(130-132)CGA>CGT	p.R44R	KMO_uc001hyy.2_Silent_p.R44R|KMO_uc009xgo.1_Silent_p.R44R	NM_003679	NP_003670	O15229	KMO_HUMAN	kynurenine 3-monooxygenase	44					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			ovary(2)	2	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			CAGATACTCGAGTGGCTACCT	0.448													T	241712984	A	T	241712984	2	4	63	1	0	0	0	0	0	0	0	1	8424	291	11	5		5	KMO	1	241712984	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	4968305	241712984	7537637	190	44923											
WDR64	128025	broad.mit.edu	37	chr1	241964455	241964455	+	Frame_Shift_Del	DEL	A	A	-													caccacgaagaagaagtttgAaaaaaaatttagtcccacaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:241964454_241964454GA>G	uc001hzg.2	+	26	3390	c.3183_3183GA>G	c.(3181-3183)ttgfs	p.L1061fs	WDR64_uc021pli.1_Frame_Shift_Del_p.L614fs	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	1061								p.N617fs*>19(1)|p.N1064fs*>19(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GAAGAAGTTTGAAAAAAAATT	0.378													-	241964455	A	-	241964455	7	5	63	1	0	1	0	1	0	0	0	0	17312	247	9	0	3290	0	WDR64	1	241964455	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	251471	241964455	7286166	191	44924											
OR2M5	127059	broad.mit.edu	37	chr1	248309019	248309019	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctactaatcctctcatgcaaTgacacatcaatatttgaaaa	3	10	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:248309019T>C	uc010pze.1	+	1	570	c.570T>C	c.(568-570)AAT>AAC	p.N190N		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	190	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TCTCATGCAATGACACATCAA	0.413													C	248309019	T	C	248309019	2	2	63	1	0	0	0	0	0	0	0	1	11013	1461	51	3		3	OR2M5	1	248309019	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	6344564	248309019	941602	192	44925											
OR2T33	391195	broad.mit.edu	37	chr1	248436928	248436928	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcatgtccatgagggaaagTtggctcaggaggaagtacat	13	6	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:248436928T>A	uc010pzi.1	-	1	189	c.189A>T	c.(187-189)CAA>CAT	p.Q63H		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	63	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGAGGGAAAGTTGGCTCAGGA	0.547													A	248436928	T	A	248436928	3	1	63	1	0	0	0	0	1	0	0	0	11024	1722	60	5	776	5	OR2T33	1	248436928	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	127909	248436928	813693	193	44926											
OR2T11	127077	broad.mit.edu	37	chr1	248790195	248790195	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttagaaaccatgtctgccaGgagttttgggacagtggtac	12	7	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:248790195G>T	uc001ier.1	-	1	235	c.235C>A	c.(235-237)CTG>ATG	p.L79M		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T,	79	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGTCTGCCAGGAGTTTTGGG	0.493													T	248790195	G	T	248790195	3	4	63	1	0	0	0	0	1	0	0	0	11018	991	35	5	719	5	OR2T11	1	248790195	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	353267	248790195	460426	194	44927											
ZNF672	79894	broad.mit.edu	37	chr1	249142338	249142338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatgcgtgcgccacttgcGgcaagggtttcgggcagcgc	15	13	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:249142338G>A	uc001iex.2	+	4	1560	c.865G>A	c.(865-867)GGC>AGC	p.G289S		NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	zinc finger protein 672	289	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGCCACTTGCGGCAAGGGTTT	0.697													A	249142338	G	A	249142338	3	1	63	1	0	0	0	0	1	0	0	0	18076	1116	39	1	867	1	ZNF672	1	249142338	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	352143	249142338	108283	195	44928											
ZNF692	55657	broad.mit.edu	37	chr1	249151439	249151439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttccagcctacctgcaaGctcctgcccactcgtggcct	7	17	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:249151439G>A	uc001ifc.1	-	4	636	c.469C>T	c.(469-471)CTT>TTT	p.L157F	ZNF692_uc001iez.1_5'Flank|ZNF692_uc001ifa.1_5'UTR|ZNF692_uc001ifb.1_5'UTR|ZNF692_uc001ifd.1_Missense_Mutation_p.L157F|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Missense_Mutation_p.L157F|ZNF692_uc010pzr.1_Missense_Mutation_p.L162F	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	zinc finger protein 692 isoform 2	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CTACCTGCAAGCTCCTGCCCA	0.502													A	249151439	G	A	249151439	3	1	63	1	0	0	0	0	1	0	0	0	18094	971	34	2	1126	2	ZNF692	1	249151439	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	9101	249151439	99182	196	44929											
SOX11	6664	broad.mit.edu	37	chr2	5833132	5833132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaaatgctgaaggacagCgagaagatcccgttcatccg	12	9	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:5833132C>T	uc002qyj.2	+	1	334	c.279C>T	c.(277-279)AGC>AGT	p.S93S		NM_003108	NP_003099	P35716	SOX11_HUMAN	SRY-box 11	93	HMG box.				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		TGAAGGACAGCGAGAAGATCC	0.592													T	5833132	C	T	5833132	2	4	63	1	0	0	0	0	0	0	0	1	14942	767	27	1		1	SOX11	2	5833132	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08		5833132	237366241	197	44930											
GREB1	9687	broad.mit.edu	37	chr2	11777871	11777871	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactctgccgcggtcgtgccGgcccagtacatctgtgcccc	11	17	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:11777871G>A	uc002rbk.1	+	31	5676	c.5376G>A	c.(5374-5376)CCG>CCA	p.P1792P	GREB1_uc002rbp.1_Silent_p.P790P	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1792						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGGTCGTGCCGGCCCAGTACA	0.657													A	11777871	G	A	11777871	2	1	63	1	0	0	0	0	0	0	0	1	6760	1103	39	1		1	GREB1	2	11777871	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	5944739	11777871	231421502	198	44931											
LPIN1	23175	broad.mit.edu	37	chr2	11944581	11944581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagaatggccccaacgaCgtggttttcagtgtcaccac	10	11	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:11944581C>T	uc010yjn.1	+	16	2212	c.1938C>T	c.(1936-1938)GAC>GAT	p.D646D	LPIN1_uc010yjm.1_Silent_p.D731D|LPIN1_uc002rbt.2_Silent_p.D646D|LPIN1_uc010yjo.1_Silent_p.D147D	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	646	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GCCCCAACGACGTGGTTTTCA	0.463													T	11944581	C	T	11944581	2	4	63	1	0	0	0	0	0	0	0	1	8918	535	19	1		1	LPIN1	2	11944581	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	166710	11944581	231254792	199	44932											
RAD51AP2	729475	broad.mit.edu	37	chr2	17698737	17698737	+	Frame_Shift_Del	DEL	T	T	-													aatgttttccgcttctacagTttttttatcattctgtaact							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:17698737delT	uc002rcl.1	-	1	970	c.946delA	c.(946-948)ACTfs	p.T316fs	RAD51AP2_uc010exn.1_Frame_Shift_Del_p.T307fs	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	316										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCTTCTACAGTTTTTTTATCA	0.328													-	17698737	T	-	17698737	7	5	63	1	0	1	0	1	0	0	0	0	12987	1725	60	0	2545	0	RAD51AP2	2	17698737	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	5754156	17698737	225500636	200	44933											
NT5C1B	93034	broad.mit.edu	37	chr2	18765871	18765871	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcgtcctcgtcctcccgcTgctgctgctgctgctcggac	11	17	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:18765871T>C	uc002rcz.2	-	5	916	c.812A>G	c.(811-813)CAG>CGG	p.Q271R	NT5C1B_uc002rcy.2_Missense_Mutation_p.Q271R|NT5C1B_uc010exr.2_Missense_Mutation_p.Q213R|NT5C1B_uc010yju.1_Missense_Mutation_p.Q211R|NT5C1B_uc002rda.2_Missense_Mutation_p.Q211R|NT5C1B_uc010yjv.1_Missense_Mutation_p.Q288R|NT5C1B_uc010yjw.1_Missense_Mutation_p.Q254R|NT5C1B_uc010exs.2_Missense_Mutation_p.Q273R|NT5C1B_uc002rdb.1_Missense_Mutation_p.Q63R	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 1	271	Poly-Gln.				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GTCCTCCCGCTGCTGCTGCTG	0.667													C	18765871	T	C	18765871	3	2	63	1	0	0	0	0	1	0	0	0	10686	1580	55	3	1044	3	NT5C1B	2	18765871	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1067134	18765871	224433502	201	44934											
GDF7	151449	broad.mit.edu	37	chr2	20870956	20870956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgccgctggactacgaggCgtaccactgcgagggccttt	14	14	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:20870956C>T	uc002rdz.1	+	2	1700	c.1124C>T	c.(1123-1125)GCG>GTG	p.A375V		NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7 preproprotein	375					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACTACGAGGCGTACCACTGC	0.577													T	20870956	C	T	20870956	3	4	63	1	0	0	0	0	1	0	0	0	6318	768	27	1	1130	1	GDF7	2	20870956	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2105085	20870956	222328417	202	44935											
APOB	338	broad.mit.edu	37	chr2	21228488	21228488	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagatctgtaaatgggAcatggaacgtaggcatgaca	12	7	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:21228488A>G	uc002red.2	-	26	11380	c.11252T>C	c.(11251-11253)GTC>GCC	p.V3751A		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3751					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGTAAATGGGACATGGAACGT	0.383													G	21228488	A	G	21228488	3	3	63	1	0	0	0	0	1	0	0	0	785	275	10	3	2455	3	APOB	2	21228488	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	357532	21228488	221970885	203	44936											
SLC5A6	8884	broad.mit.edu	37	chr2	27430333	27430333	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcagcccattttgcggtcCgccatcagcagctcaccaac	9	16	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:27430333C>T	uc002rjd.2	-	3	577	c.186G>A	c.(184-186)GCG>GCA	p.A62A	SLC5A6_uc010eyv.1_Silent_p.A62A|SLC5A6_uc002rje.1_Silent_p.A62A	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	62					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	TTTTGCGGTCCGCCATCAGCA	0.602													T	27430333	C	T	27430333	2	4	63	1	0	0	0	0	0	0	0	1	14669	639	23	1		1	SLC5A6	2	27430333	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	6201845	27430333	215769040	204	44937											
PLB1	151056	broad.mit.edu	37	chr2	28855889	28855889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatgccgagatggccatcGcactctggaacaacatggtg	13	11	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:28855889G>A	uc002rmb.1	+	56	4081	c.4081G>A	c.(4081-4083)GCA>ACA	p.A1361T	PLB1_uc010ezj.1_Missense_Mutation_p.A1350T|PLB1_uc002rme.1_Missense_Mutation_p.A326T|PLB1_uc002rmf.1_RNA	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	1361	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|4.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					GATGGCCATCGCACTCTGGAA	0.552													A	28855889	G	A	28855889	3	1	63	1	0	0	0	0	1	0	0	0	12024	1087	38	1	4336	1	PLB1	2	28855889	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1425556	28855889	214343484	205	44938											
BIRC6	57448	broad.mit.edu	37	chr2	32695244	32695244	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtttttagggtcttcaTgttactttcctgcattggtc	8	7	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:32695244T>C	uc010ezu.2	+	31	6490	c.6356T>C	c.(6355-6357)ATG>ACG	p.M2119T		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2119					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					AGGGTCTTCATGTTACTTTCC	0.284													C	32695244	T	C	32695244	3	2	63	1	0	0	0	0	1	0	0	0	1438	1464	51	3	6478	3	BIRC6	2	32695244	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	3839355	32695244	210504129	206	44939											
PREPL	9581	broad.mit.edu	37	chr2	44550553	44550553	+	Splice_Site	DEL	A	A	-													aacatccaagaaaggtgcctAaaaaaaaggcaaagaaactt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:44550552_44550552TA>T	uc002ruf.3	-	11	2706	c.1747_splice	c.e11-1	p.A583_splice	PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	583					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAAAGGTGCCTAAAAAAAAGG	0.333													-	44550553	A	-	44550553	8	5	63	1	0	1	0	1	0	0	1	0	12475	377	13	0		0	PREPL	2	44550553	Splice_Site	DEL	A	TCGA-BR-8078-01A-11D-2340-08	11855309	44550553	198648820	207	44940											
SIX2	10736	broad.mit.edu	37	chr2	45236072	45236072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctcgcggaagttgccgcGgtggaaggccaccacggcct	16	13	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:45236072G>A	uc002ruo.2	-	1	471	c.178C>T	c.(178-180)CGC>TGC	p.R60C	SIX2_uc002rup.2_Missense_Mutation_p.R60C	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	60						nucleus	sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAGTTGCCGCGGTGGAAGGCC	0.627													A	45236072	G	A	45236072	3	1	63	1	0	0	0	0	1	0	0	0	14347	1116	39	1	705	1	SIX2	2	45236072	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	685519	45236072	197963301	208	44941											
PRKCE	5581	broad.mit.edu	37	chr2	46203633	46203633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggaagcggcagggggccGtcaggcgcagggtccatcag	19	11	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:46203633G>A	uc002rut.2	+	3	675	c.478G>A	c.(478-480)GTC>ATC	p.V160I		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	160					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			GCAGGGGGCCGTCAGGCGCAG	0.587													A	46203633	G	A	46203633	3	1	63	1	0	0	0	0	1	0	0	0	12511	1145	40	1	488	1	PRKCE	2	46203633	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	967561	46203633	196995740	209	44942											
KLRAQ1	129285	broad.mit.edu	37	chr2	48722901	48722901	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgaaagtcgagaaggcctTgcacagcaagtatggcactg	12	9	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:48722901T>C	uc002rwm.2	+	16	1868	c.1683T>C	c.(1681-1683)CTT>CTC	p.L561L	KLRAQ1_uc002rwj.2_Silent_p.L561L|KLRAQ1_uc002rwl.2_Silent_p.L515L|KLRAQ1_uc002rwk.2_Silent_p.L561L|KLRAQ1_uc010yok.1_Intron	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	561	Potential.									ovary(1)	1						GAGAAGGCCTTGCACAGCAAG	0.413													C	48722901	T	C	48722901	2	2	63	1	0	0	0	0	0	0	0	1	8413	1799	63	3		3	KLRAQ1	2	48722901	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	2519268	48722901	194476472	210	44943											
NRXN1	9378	broad.mit.edu	37	chr2	50280724	50280724	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctattgaagattgtgagctgAcgccctgtaaaaataatatt	8	6	0	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:50280724A>G	uc010fbp.2	-	4	1425	c.618T>C	c.(616-618)CGT>CGC	p.R206R	NRXN1_uc002rxb.3_Silent_p.R943R|NRXN1_uc010fbq.2_Silent_p.R1311R|NRXN1_uc002rxe.3_Silent_p.R1241R	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	206	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTGTGAGCTGACGCCCTGTAA	0.413													G	50280724	A	G	50280724	2	3	63	1	0	0	0	0	0	0	0	1	10665	262	10	3		3	NRXN1	2	50280724	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	1557823	50280724	192918649	211	44944											
NRXN1	9378	broad.mit.edu	37	chr2	51255184	51255184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatcagctccaggaagtcGcagaagccctcgtcgtcgaa	11	12	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:51255184G>A	uc010fbq.2	-	2	1705	c.228C>T	c.(226-228)TGC>TGT	p.C76C	NRXN1_uc002rxe.3_Silent_p.C76C|NRXN1_uc002rxd.1_Silent_p.C76C	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCAGGAAGTCGCAGAAGCCCT	0.652													A	51255184	G	A	51255184	2	1	63	1	0	0	0	0	0	0	0	1	10665	1079	38	1		1	NRXN1	2	51255184	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	974460	51255184	191944189	212	44945											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	63	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-BR-8078-01A-11D-2340-08	2911956	54167140	189032233	213	44946											
SPTBN1	6711	broad.mit.edu	37	chr2	54876770	54876770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgttacaagaacgattcCgggagtttgcccgagacacc	11	10	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:54876770C>T	uc002rxu.2	+	26	5470	c.5221C>T	c.(5221-5223)CGG>TGG	p.R1741W	SPTBN1_uc002rxx.2_Missense_Mutation_p.R1728W|SPTBN1_uc002rxy.2_5'Flank	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1741	Interaction with ANK2.|Spectrin 14.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			AGAACGATTCCGGGAGTTTGC	0.507													T	54876770	C	T	54876770	3	4	63	1	0	0	0	0	1	0	0	0	15118	643	23	1	5432	1	SPTBN1	2	54876770	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	709630	54876770	188322603	214	44947											
REL	5966	broad.mit.edu	37	chr2	61148969	61148969	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcaagtcaagcagaatccTactatccctcacctgggccc	6	15	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:61148969T>C	uc002sam.1	+	11	1383	c.1159T>C	c.(1159-1161)TAC>CAC	p.Y387H	REL_uc002san.1_Missense_Mutation_p.Y355H	NM_002908	NP_002899	Q04864	REL_HUMAN	v-rel reticuloendotheliosis viral oncogene	387					positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AGCAGAATCCTACTATCCCTC	0.478			A		Hodgkin Lymphoma								C	61148969	T	C	61148969	3	2	63	1	0	0	0	0	1	0	0	0	13215	1522	53	3	1201	3	REL	2	61148969	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	6272199	61148969	182050404	215	44948											
USP34	9736	broad.mit.edu	37	chr2	61575065	61575065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgtggaccaataaattgtCgacaattaaataattcattc	6	7	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:61575065C>T	uc002sbe.2	-	15	2247	c.2225G>A	c.(2224-2226)CGA>CAA	p.R742Q		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	742					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			AATAAATTGTCGACAATTAAA	0.318													T	61575065	C	T	61575065	3	4	63	1	0	0	0	0	1	0	0	0	17062	884	31	1	8679	1	USP34	2	61575065	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	426096	61575065	181624308	216	44949											
XPO1	7514	broad.mit.edu	37	chr2	61711237	61711237	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgttcaggatattcttcaaAgtcctaaaaataagtggtgg	9	5	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:61711237A>C	uc002sbj.2	-	21	3240	c.2512T>G	c.(2512-2514)TTT>GTT	p.F838V	XPO1_uc010fcl.2_Missense_Mutation_p.F834V|XPO1_uc010ypn.1_Missense_Mutation_p.F834V|XPO1_uc002sbk.2_Missense_Mutation_p.F399V|XPO1_uc002sbg.2_Missense_Mutation_p.F35V|XPO1_uc002sbh.2_Missense_Mutation_p.F485V	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	838					intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TATTCTTCAAAGTCCTAAAAA	0.368													C	61711237	A	C	61711237	3	2	63	1	0	0	0	0	1	0	0	0	17442	72	3	5	723	5	XPO1	2	61711237	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	136172	61711237	181488136	217	44950											
EHBP1	23301	broad.mit.edu	37	chr2	63176136	63176137	+	Frame_Shift_Ins	INS	-	-	A													agatccagaatctcctatcaINSaaaaaacaagtttatctcct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:63176135_63176136C>CA	uc002sby.3	+	13	2741_2742	c.2259_2260C>CA	c.(2257-2262)atcaaafs	p.I753fs	EHBP1_uc010fcp.3_Frame_Shift_Ins_p.I718fs|EHBP1_uc002sbz.3_Frame_Shift_Ins_p.I718fs|EHBP1_uc002scb.3_Frame_Shift_Ins_p.I718fs	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	753						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AATCTCCTATCAAAAAAACAAG	0.371													A	63176137	-	A	63176136	7	5	63	1	0	1	1	0	0	0	0	0	4975	131	5	0	2310	0	EHBP1	2	63176136	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1464899	63176136	180023237	218	44951											
AFTPH	54812	broad.mit.edu	37	chr2	64779393	64779393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagagaagcactaaccattcGggaaaacaataaaattaata	6	6	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:64779393G>A	uc002sdc.2	+	1	817	c.785G>A	c.(784-786)CGG>CAG	p.R262Q	AFTPH_uc002scz.2_Missense_Mutation_p.R262Q|AFTPH_uc002sda.2_Missense_Mutation_p.R262Q|AFTPH_uc002sdb.2_Missense_Mutation_p.R262Q	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	262					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						CTAACCATTCGGGAAAACAAT	0.348													A	64779393	G	A	64779393	3	1	63	1	0	0	0	0	1	0	0	0	364	1116	39	1	787	1	AFTPH	2	64779393	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1603257	64779393	178419980	219	44952											
CEP68	23177	broad.mit.edu	37	chr2	65298713	65298713	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatccctagcagatttgccCcaggcactggacctcagcca	8	17	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:65298713C>A	uc002sdl.3	+	3	697	c.483C>A	c.(481-483)CCC>CCA	p.P161P	CEP68_uc002sdj.2_Silent_p.P161P|CEP68_uc010yqb.1_Silent_p.P161P|CEP68_uc002sdk.3_Silent_p.P161P|CEP68_uc010yqc.1_Silent_p.P161P|CEP68_uc010yqd.1_Silent_p.P161P	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	161					centrosome organization	centrosome				skin(1)	1						CAGATTTGCCCCAGGCACTGG	0.562													A	65298713	C	A	65298713	2	1	63	1	0	0	0	0	0	0	0	1	3258	610	22	5		5	CEP68	2	65298713	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	519320	65298713	177900660	220	44953											
C2orf42	54980	broad.mit.edu	37	chr2	70406777	70406777	+	Splice_Site	DEL	A	A	-													caataatctctttaagacctAaaaaaaagaagatttctgaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:70406776_70406776TA>T	uc002sgh.3	-	4	1152	c.824_splice	c.e4-1	p.G275_splice		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	275										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CTTTAAGACCTAAAAAAAAGA	0.353													-	70406777	A	-	70406777	8	5	63	1	0	1	0	1	0	0	1	0	2166	377	13	0		0	C2orf42	2	70406777	Splice_Site	DEL	A	TCGA-BR-8078-01A-11D-2340-08	5108064	70406777	172792596	221	44954											
ADD2	119	broad.mit.edu	37	chr2	70890788	70890788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgctcctcctccctcccGttgaccaccaccccttccgg	6	22	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:70890788G>A	uc002sgz.2	-	16	2415	c.1950C>T	c.(1948-1950)AAC>AAT	p.N650N	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_3'UTR|ADD2_uc002sha.2_Silent_p.N344N|ADD2_uc002sgx.2_3'UTR	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	650					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						CCTCCCTCCCGTTGACCACCA	0.517													A	70890788	G	A	70890788	2	1	63	1	0	0	0	0	0	0	0	1	305	1136	40	1		1	ADD2	2	70890788	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	484011	70890788	172308585	222	44955											
ATP6V1B1	525	broad.mit.edu	37	chr2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-													tttcttctccctcagatctaCccccccatcaacgtgctccc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:71191572_71191572AC>A	uc002shj.3	+	11	1235	c.1148_1148AC>A	c.(1147-1149)tacfs	p.Y383fs	ATP6V1B1_uc010fdx.3_Frame_Shift_Del_p.Y341fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	383					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATC	0.542											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	71191573	C	-	71191573	7	5	63	1	0	1	0	1	0	0	0	0	1178	518	18	0	1195	0	ATP6V1B1	2	71191573	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	300785	71191573	172007800	223	44956											
DYSF	8291	broad.mit.edu	37	chr2	71825778	71825778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaccccacctgggaccagaCgctcatcttctacgagatcg	8	15	3	2	rs140684741	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:71825778C>T	uc002sie.2	+	33	3981	c.3605C>T	c.(3604-3606)ACG>ATG	p.T1202M	DYSF_uc010feg.2_Missense_Mutation_p.T1233M|DYSF_uc010feh.2_Missense_Mutation_p.T1188M|DYSF_uc002sig.3_Missense_Mutation_p.T1188M|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.T1202M|DYSF_uc010fef.2_Missense_Mutation_p.T1219M|DYSF_uc010fei.2_Missense_Mutation_p.T1219M|DYSF_uc010fek.2_Missense_Mutation_p.T1220M|DYSF_uc010fej.2_Missense_Mutation_p.T1189M|DYSF_uc010fel.2_Missense_Mutation_p.T1189M|DYSF_uc010feo.2_Missense_Mutation_p.T1234M|DYSF_uc010fem.2_Missense_Mutation_p.T1203M|DYSF_uc010fen.2_Missense_Mutation_p.T1220M|DYSF_uc002sif.2_Missense_Mutation_p.T1203M|DYSF_uc010yqy.1_Missense_Mutation_p.T83M	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1202	Cytoplasmic (Potential).|C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						TGGGACCAGACGCTCATCTTC	0.572													T	71825778	C	T	71825778	3	4	63	1	0	0	0	0	1	0	0	0	4859	536	19	1	3927	1	DYSF	2	71825778	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	634205	71825778	171373595	224	44957											
DYSF	8291	broad.mit.edu	37	chr2	71908139	71908139	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcccctcagggcaagctGgaaatgaccttggagattgt	12	10	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:71908139G>T	uc002sie.2	+	53	6331	c.5955G>T	c.(5953-5955)CTG>CTT	p.L1985L	DYSF_uc010feg.2_Silent_p.L2016L|DYSF_uc010feh.2_Silent_p.L1992L|DYSF_uc002sig.3_Silent_p.L1971L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.L2006L|DYSF_uc010fef.2_Silent_p.L2023L|DYSF_uc010fei.2_Silent_p.L2002L|DYSF_uc010fek.2_Silent_p.L2003L|DYSF_uc010fej.2_Silent_p.L1993L|DYSF_uc010fel.2_Silent_p.L1972L|DYSF_uc010feo.2_Silent_p.L2017L|DYSF_uc010fem.2_Silent_p.L2007L|DYSF_uc010fen.2_Silent_p.L2024L|DYSF_uc002sif.2_Silent_p.L1986L|DYSF_uc010yqy.1_Silent_p.L866L|DYSF_uc010yqz.1_Silent_p.L746L	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1985	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						AGGGCAAGCTGGAAATGACCT	0.567													T	71908139	G	T	71908139	2	4	63	1	0	0	0	0	0	0	0	1	4859	1335	47	5		5	DYSF	2	71908139	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	82361	71908139	171291234	225	44958											
FBXO41	150726	broad.mit.edu	37	chr2	73491114	73491114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccttctttccccgctgcCggggcttcaagttctgcagc	9	16	4	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:73491114C>T	uc002sjb.1	-	7	2057	c.2057G>A	c.(2056-2058)CGG>CAG	p.R686Q		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	625						intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						TCCCCGCTGCCGGGGCTTCAA	0.622													T	73491114	C	T	73491114	3	4	63	1	0	0	0	0	1	0	0	0	5750	652	23	1	781	1	FBXO41	2	73491114	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1582975	73491114	169708259	226	44959											
ALMS1	7840	broad.mit.edu	37	chr2	73677596	73677596	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggctaagaatgtttcAgcggttcctggaccagctga	13	8	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:73677596A>G	uc002sje.1	+	10	4056	c.3945A>G	c.(3943-3945)TCA>TCG	p.S1315S	ALMS1_uc002sjf.1_Silent_p.S1271S|ALMS1_uc002sjg.2_Silent_p.S701S|ALMS1_uc002sjh.1_Silent_p.S701S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1313	17.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						AGAATGTTTCAGCGGTTCCTG	0.443													G	73677596	A	G	73677596	2	3	63	1	0	0	0	0	0	0	0	1	535	175	7	3		3	ALMS1	2	73677596	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	186482	73677596	169521777	227	44960											
HK2	3099	broad.mit.edu	37	chr2	75107417	75107417	+	Frame_Shift_Del	DEL	G	G	-													ccaagcgtctacataagaccGtgcggcggctggtgcccggc					rs143068594		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:75107416_75107416CG>C	uc002snd.3	+	9	3216	c.1290_1290CG>C	c.(1288-1290)accfs	p.T430fs		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	430	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TACATAAGACCGTGCGGCGGC	0.597													-	75107417	G	-	75107417	7	5	63	1	0	1	0	1	0	0	0	0	7191	1145	40	0	1329	0	HK2	2	75107417	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	1429821	75107417	168091956	228	44961											
TACR1	6869	broad.mit.edu	37	chr2	75347720	75347720	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actttctcataaatcttgttCggatgctctggccattcgat	7	10	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:75347720C>T	uc002sng.2	-	2	1149	c.564G>A	c.(562-564)CCG>CCA	p.P188P	TACR1_uc002snh.2_Silent_p.P188P	NM_001058	NP_001049	P25103	NK1R_HUMAN	tachykinin receptor 1 isoform long	188	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			ovary(1)	1					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	AAATCTTGTTCGGATGCTCTG	0.537													T	75347720	C	T	75347720	2	4	63	1	0	0	0	0	0	0	0	1	15502	871	31	1		1	TACR1	2	75347720	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	240303	75347720	167851653	229	44962											
TGOLN2	10618	broad.mit.edu	37	chr2	85554669	85554669	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctagggctgtcttttggAgtctgcggctccggatgcga	15	9	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:85554669A>G	uc010fgd.1	-	2	475	c.186T>C	c.(184-186)ACT>ACC	p.T62T	TGOLN2_uc002soz.2_Silent_p.T62T|TGOLN2_uc002spa.2_RNA|TGOLN2_uc002spb.2_Silent_p.T62T|TGOLN2_uc002spc.1_Silent_p.T62T	NM_006464	NP_006455	O43493	TGON2_HUMAN	trans-golgi network protein 2	62	Extracellular (Potential).|14 X 14 AA tandem repeats.|1.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding				0						TGTCTTTTGGAGTCTGCGGCT	0.602													G	85554669	A	G	85554669	2	3	63	1	0	0	0	0	0	0	0	1	15833	291	11	3		3	TGOLN2	2	85554669	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	10206949	85554669	157644704	230	44963											
POLR1A	25885	broad.mit.edu	37	chr2	86258589	86258589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgggtttccggggctgcGtcaggagggcgggaagggac	23	7	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:86258589G>A	uc002sqs.2	-	30	4821	c.4442C>T	c.(4441-4443)ACG>ATG	p.T1481M	POLR1A_uc010ytb.1_Missense_Mutation_p.T847M	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1481					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						CCGGGGCTGCGTCAGGAGGGC	0.637													A	86258589	G	A	86258589	3	1	63	1	0	0	0	0	1	0	0	0	12209	1145	40	1	740	1	POLR1A	2	86258589	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	703920	86258589	156940784	231	44964											
POLR1A	25885	broad.mit.edu	37	chr2	86327260	86327260	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttccccaggctgtccaggTatcgagggttcgtaatggat	14	9	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:86327260T>C	uc002sqs.2	-	2	492	c.113A>G	c.(112-114)TAC>TGC	p.Y38C	POLR1A_uc002sqv.2_Missense_Mutation_p.Y38C	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	38					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						GCTGTCCAGGTATCGAGGGTT	0.483													C	86327260	T	C	86327260	3	2	63	1	0	0	0	0	1	0	0	0	12209	1638	57	3	5181	3	POLR1A	2	86327260	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	68671	86327260	156872113	232	44965											
GPAT2	150763	broad.mit.edu	37	chr2	96691753	96691753	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagcttctggcactgacgAtgtattcctgcccaagagaa	10	11	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:96691753A>G	uc002svf.2	-	12	1386	c.1163T>C	c.(1162-1164)ATC>ACC	p.I388T	GPAT2_uc002svd.2_Missense_Mutation_p.I201T|GPAT2_uc002sve.2_Missense_Mutation_p.I190T|GPAT2_uc002svg.2_Missense_Mutation_p.I261T|GPAT2_uc010yuh.1_Missense_Mutation_p.I317T|GPAT2_uc002svh.2_Missense_Mutation_p.I388T	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2,	388					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity				0						GGCACTGACGATGTATTCCTG	0.612													G	96691753	A	G	96691753	3	3	63	1	0	0	0	0	1	0	0	0	6589	333	12	3	1268	3	GPAT2	2	96691753	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	10364493	96691753	146507620	233	44966											
ARID5A	10865	broad.mit.edu	37	chr2	97217956	97217956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccttcgacagtgccctccGccacagactttgcccggcct	9	18	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:97217956G>A	uc002swe.2	+	7	1791	c.1691G>A	c.(1690-1692)CGC>CAC	p.R564H	ARID5A_uc010yuq.1_Missense_Mutation_p.R512H|ARID5A_uc002swf.2_Missense_Mutation_p.R400H|ARID5A_uc002swg.2_Missense_Mutation_p.R512H	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A	564					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding				0						AGTGCCCTCCGCCACAGACTT	0.662													A	97217956	G	A	97217956	3	1	63	1	0	0	0	0	1	0	0	0	921	1087	38	1	1717	1	ARID5A	2	97217956	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	526203	97217956	145981417	234	44967											
SEMA4C	54910	broad.mit.edu	37	chr2	97530066	97530066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataggggccctcaaacaccCgctggatctcttccaactgg	9	14	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:97530066C>T	uc002sxh.3	-	10	1176	c.1016G>A	c.(1015-1017)CGG>CAG	p.R339Q	SEMA4C_uc002sxf.3_5'Flank|SEMA4C_uc002sxe.2_5'Flank|SEMA4C_uc002sxg.3_Missense_Mutation_p.R392Q	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	semaphorin 4C precursor	339	Extracellular (Potential).|Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			skin(2)	2						CTCAAACACCCGCTGGATCTC	0.592													T	97530066	C	T	97530066	3	4	63	1	0	0	0	0	1	0	0	0	14033	652	23	1	1509	1	SEMA4C	2	97530066	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	312110	97530066	145669307	235	44968											
ZAP70	7535	broad.mit.edu	37	chr2	98340512	98340512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggcgatgccagaccccGcggcgcacctgcccttcttc	12	18	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:98340512G>A	uc002syd.1	+	3	220	c.13G>A	c.(13-15)GCG>ACG	p.A5T	ZAP70_uc010yvf.1_Missense_Mutation_p.A5T|ZAP70_uc002sye.1_5'Flank	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	5					immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						GCCAGACCCCGCGGCGCACCT	0.687													A	98340512	G	A	98340512	3	1	63	1	0	0	0	0	1	0	0	0	17511	1087	38	1	15	1	ZAP70	2	98340512	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	810446	98340512	144858861	236	44969											
VWA3B	200403	broad.mit.edu	37	chr2	98737906	98737906	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggatgctctgctggaagcCgggagagacaagactgtaag	15	8	1	2	rs151050857	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:98737906C>T	uc002syo.2	+	5	951	c.687C>T	c.(685-687)GCC>GCT	p.A229A	VWA3B_uc010yvh.1_Silent_p.A79A|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Silent_p.A229A|VWA3B_uc002syn.1_RNA	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	229										ovary(3)|large_intestine(2)|skin(1)	6						TGCTGGAAGCCGGGAGAGACA	0.562													T	98737906	C	T	98737906	2	4	63	1	0	0	0	0	0	0	0	1	17238	639	23	1		1	VWA3B	2	98737906	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	397394	98737906	144461467	237	44970											
INPP4A	3631	broad.mit.edu	37	chr2	99155399	99155399	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacggaggcgttaggaatcCgatccaaatacgcttcattg	11	9	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:99155399C>T	uc002syy.2	+	9	1018	c.625C>T	c.(625-627)CGA>TGA	p.R209*	INPP4A_uc010yvj.1_Nonsense_Mutation_p.R209*|INPP4A_uc010yvk.1_Nonsense_Mutation_p.R209*|INPP4A_uc002syx.2_Nonsense_Mutation_p.R209*|INPP4A_uc010fik.2_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type 1	209					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			kidney(1)	1						GTTAGGAATCCGATCCAAATA	0.448													T	99155399	C	T	99155399	4	4	63	1	0	0	0	0	0	1	0	0	7752	644	23	1	651	1	INPP4A	2	99155399	Nonsense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	417493	99155399	144043974	238	44971											
EIF5B	9669	broad.mit.edu	37	chr2	99976805	99976805	+	Frame_Shift_Del	DEL	A	A	-													aagggaaaaagaaaaaagagAaaaaaaagcaggactttgag							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:99976804_99976804GA>G	uc002tab.3	+	1	325	c.141_141GA>G	c.(139-141)gagfs	p.E47fs		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	47	Poly-Lys.				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGAAAAAAGAGAAAAAAAAGC	0.343													-	99976805	A	-	99976805	7	5	63	1	0	1	0	1	0	0	0	0	5044	247	9	0	148	0	EIF5B	2	99976805	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	821406	99976805	143222568	239	44972											
AFF3	3899	broad.mit.edu	37	chr2	100170848	100170848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgctgttggtgatgctgaCgtggttggccgccatctggt	16	8	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:100170848C>T	uc002tag.2	-	23	3720	c.3484G>A	c.(3484-3486)GTC>ATC	p.V1162I	AFF3_uc002taf.2_Missense_Mutation_p.V1187I	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	1162					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						GTGATGCTGACGTGGTTGGCC	0.642													T	100170848	C	T	100170848	3	4	63	1	0	0	0	0	1	0	0	0	358	536	19	1	204	1	AFF3	2	100170848	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	194043	100170848	143028525	240	44973											
NPAS2	4862	broad.mit.edu	37	chr2	101607279	101607279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccagcccatgatgcccGggtcctgtgacgcaaggcag	12	15	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:101607279G>A	uc002tap.1	+	19	2342	c.2056G>A	c.(2056-2058)GGG>AGG	p.G686R	NPAS2_uc010yvt.1_Missense_Mutation_p.G751R|NPAS2_uc010fit.1_Intron	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	686					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4						CATGATGCCCGGGTCCTGTGA	0.607													A	101607279	G	A	101607279	3	1	63	1	0	0	0	0	1	0	0	0	10563	1116	39	1	2126	1	NPAS2	2	101607279	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1436431	101607279	141592094	241	44974											
SLC9A2	6549	broad.mit.edu	37	chr2	103324746	103324746	+	Frame_Shift_Del	DEL	C	C	-													tggccgagatatgcccagcaCccccccaacaccccacagca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:103324745_103324745AC>A	uc002tca.3	+	11	2378	c.2236_2236AC>A	c.(2236-2238)accfs	p.T746fs		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	746						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TATGCCCAGCACCCCCCCAAC	0.527													-	103324746	C	-	103324746	7	5	63	1	0	1	0	1	0	0	0	0	14712	507	18	0	2283	0	SLC9A2	2	103324746	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	1717467	103324746	139874627	242	44975											
ST6GAL2	84620	broad.mit.edu	37	chr2	107459775	107459775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcatcgccttctgcaggCgcgggttcagcattttggaa	11	12	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:107459775C>T	uc002tdq.2	-	2	778	c.659G>A	c.(658-660)CGC>CAC	p.R220H	ST6GAL2_uc002tdr.2_Missense_Mutation_p.R220H|ST6GAL2_uc002tds.3_Missense_Mutation_p.R220H	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	220	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						CTTCTGCAGGCGCGGGTTCAG	0.647													T	107459775	C	T	107459775	3	4	63	1	0	0	0	0	1	0	0	0	15221	768	27	1	1037	1	ST6GAL2	2	107459775	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4135029	107459775	135739598	243	44976											
RANBP2	5903	broad.mit.edu	37	chr2	109384718	109384718	+	Frame_Shift_Del	DEL	A	A	-													ctgaaagcaaagtggaacctAaaaaatgtgaactgtcaaag							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:109384717_109384717TA>T	uc002tem.4	+	19	7848	c.7722_7722TA>T	c.(7720-7722)cctfs	p.P2574fs		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2574					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAGTGGAACCTAAAAAATGTG	0.368													-	109384718	A	-	109384718	7	5	63	1	0	1	0	1	0	0	0	0	13028	363	13	0	7801	0	RANBP2	2	109384718	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	1924943	109384718	133814655	244	44977											
ANKRD57	65124	broad.mit.edu	37	chr2	110373095	110373095	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacgagcgggggttacacCgccctgcacttggcagccat	14	13	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:110373095C>T	uc002tfb.2	+	1	1185	c.1029C>T	c.(1027-1029)ACC>ACT	p.T343T	SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank	NM_023016	NP_075392	Q53LP3	ANR57_HUMAN	ankyrin repeat domain 57	343	ANK 2.										0						GGGGTTACACCGCCCTGCACT	0.622													T	110373095	C	T	110373095	2	4	63	1	0	0	0	0	0	0	0	1	683	639	23	1		1	ANKRD57	2	110373095	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	988377	110373095	132826278	245	44978											
ANAPC1	64682	broad.mit.edu	37	chr2	112620029	112620029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcaggaacaattggctccGtttctggtgcaagaaaggag	13	7	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:112620029G>A	uc002thi.2	-	10	1446	c.1199C>T	c.(1198-1200)ACG>ATG	p.T400M		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	400					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				skin(2)	2						AATTGGCTCCGTTTCTGGTGC	0.328													A	112620029	G	A	112620029	3	1	63	1	0	0	0	0	1	0	0	0	598	1145	40	1	4791	1	ANAPC1	2	112620029	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2246934	112620029	130579344	246	44979											
MERTK	10461	broad.mit.edu	37	chr2	112686911	112686911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgaatcaaagcccctaccGcctcttgccttcaaacacac	5	17	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:112686911G>A	uc002thk.1	+	2	398	c.276G>A	c.(274-276)CCG>CCA	p.P92P	MERTK_uc002thl.1_Intron	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	92	Extracellular (Potential).|Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						AGCCCCTACCGCCTCTTGCCT	0.453													A	112686911	G	A	112686911	2	1	63	1	0	0	0	0	0	0	0	1	9479	1074	38	1		1	MERTK	2	112686911	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	66882	112686911	130512462	247	44980											
POLR1B	84172	broad.mit.edu	37	chr2	113306901	113306901	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtcatccgaatgttgattAtgcctcggagaaattttccc	8	9	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:113306901A>G	uc002thw.2	+	4	1130	c.550A>G	c.(550-552)ATG>GTG	p.M184V	POLR1B_uc010fkn.2_Missense_Mutation_p.M128V|POLR1B_uc002thx.2_Missense_Mutation_p.M45V|POLR1B_uc010fko.2_Missense_Mutation_p.M184V|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Missense_Mutation_p.M222V|POLR1B_uc002thy.2_Missense_Mutation_p.M45V|POLR1B_uc010yxo.1_Intron	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	184					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1						AATGTTGATTATGCCTCGGAG	0.363													G	113306901	A	G	113306901	3	3	63	1	0	0	0	0	1	0	0	0	12210	449	16	3	564	3	POLR1B	2	113306901	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	619990	113306901	129892472	248	44981											
INSIG2	51141	broad.mit.edu	37	chr2	118860856	118860856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagtggtccagtgtaatgCggtgtgtagcagtctttgtt	15	5	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:118860856C>T	uc002tlk.2	+	3	534	c.328C>T	c.(328-330)CGG>TGG	p.R110W	INSIG2_uc010yye.1_Missense_Mutation_p.R2W|INSIG2_uc002tll.2_Missense_Mutation_p.R2W	NM_016133	NP_057217	Q9Y5U4	INSI2_HUMAN	insulin induced protein 2	110					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				ovary(1)|central_nervous_system(1)	2						CAGTGTAATGCGGTGTGTAGC	0.393													T	118860856	C	T	118860856	3	4	63	1	0	0	0	0	1	0	0	0	7766	759	27	1	334	1	INSIG2	2	118860856	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	5553955	118860856	124338517	249	44982											
PCDP1	200373	broad.mit.edu	37	chr2	120366155	120366155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtggcaaaaagcatgtgCcaaatataaggtcagagtta	11	5	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:120366155C>T	uc002tmb.2	+	13	1445	c.353C>T	c.(352-354)GCC>GTC	p.A118V	PCDP1_uc010yyq.1_Missense_Mutation_p.A248V	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	primary ciliary dyskinesia protein 1	404						cilium	calmodulin binding				0	Colorectal(110;0.196)					AAAGCATGTGCCAAATATAAG	0.373													T	120366155	C	T	120366155	3	4	63	1	0	0	0	0	1	0	0	0	11572	739	26	2	367	2	PCDP1	2	120366155	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1505299	120366155	122833218	250	44983											
PTPN4	5775	broad.mit.edu	37	chr2	120677766	120677766	+	Frame_Shift_Del	DEL	A	A	-													ggacagaccacttccacctcAaaagaatttttttgcacatt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:120677766delA	uc002tmf.1	+	12	1721	c.950delA	c.(949-951)CAAfs	p.Q317fs	PTPN4_uc010flj.1_Frame_Shift_Del_p.Q30fs	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	317						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	CTTCCACCTCAAAAGAATTTT	0.343													-	120677766	A	-	120677766	7	5	63	1	0	1	0	1	0	0	0	0	12790	130	5	0	992	0	PTPN4	2	120677766	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	311611	120677766	122521607	251	44984											
INHBB	3625	broad.mit.edu	37	chr2	121107211	121107211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcacccaccggctactacGggaactactgtgagggcagc	12	13	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:121107211G>A	uc002tmn.2	+	2	1031	c.985G>A	c.(985-987)GGG>AGG	p.G329R		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	329					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)				CGGCTACTACGGGAACTACTG	0.622													A	121107211	G	A	121107211	3	1	63	1	0	0	0	0	1	0	0	0	7742	1116	39	1	991	1	INHBB	2	121107211	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	429445	121107211	122092162	252	44985											
CLASP1	23332	broad.mit.edu	37	chr2	122144775	122144775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggtgtgtcgggagggCgtccggccaatcgtattgct	16	10	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:122144775C>T	uc002tnc.2	-	31	3687	c.3297G>A	c.(3295-3297)ACG>ACA	p.T1099T	CLASP1_uc010yyv.1_Silent_p.T184T|CLASP1_uc002tmz.2_Silent_p.T184T|CLASP1_uc002tna.2_Silent_p.T184T|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Silent_p.T1079T|CLASP1_uc010yza.1_Silent_p.T1071T|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tnf.2_Silent_p.T40T	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	1099					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)					GTCGGGAGGGCGTCCGGCCAA	0.522													T	122144775	C	T	122144775	2	4	63	1	0	0	0	0	0	0	0	1	3454	755	27	1		1	CLASP1	2	122144775	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1037564	122144775	121054598	253	44986											
IWS1	55677	broad.mit.edu	37	chr2	128238676	128238676	+	Frame_Shift_Del	DEL	T	T	-													cactgcgtgtgcagatctgcTttttttccttatatctgtga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:128238675_128238675CT>C	uc002ton.2	-	13	2708	c.2405_2405AG>G	c.(2404-2406)agcfs	p.S802fs		NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	802					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TGCAGATCTGCTTTTTTTCCT	0.423													-	128238676	T	-	128238676	7	5	63	1	0	1	0	1	0	0	0	0	7931	1609	56	0	59	0	IWS1	2	128238676	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	6093901	128238676	114960697	254	44987											
NCKAP5	344148	broad.mit.edu	37	chr2	133542088	133542088	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttgctgctgaggattttGtgtcactgtcctggagctga	12	8	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:133542088G>A	uc002ttp.2	-	14	2670	c.2296C>T	c.(2296-2298)CAA>TAA	p.Q766*	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	766							protein binding				0						TGAGGATTTTGTGTCACTGTC	0.423													A	133542088	G	A	133542088	4	1	63	1	0	0	0	0	0	1	0	0	10223	1386	48	4	3461	4	NCKAP5	2	133542088	Nonsense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	5303412	133542088	109657285	255	44988											
MGAT5	4249	broad.mit.edu	37	chr2	135095925	135095925	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggatccggcgaatggctgaCgcatggatccaagcaatcaa	12	11	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:135095925C>T	uc002ttv.1	+	6	886	c.741C>T	c.(739-741)GAC>GAT	p.D247D		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	247	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GAATGGCTGACGCATGGATCC	0.428													T	135095925	C	T	135095925	2	4	63	1	0	0	0	0	0	0	0	1	9548	535	19	1		1	MGAT5	2	135095925	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1553837	135095925	108103448	256	44989											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135870727	135870727	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctttttttaaggtatggGctacgtgagttcgtggtgat	12	4	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:135870727G>A	uc002tuj.2	+	6	394	c.369G>A	c.(367-369)GGG>GGA	p.G123G	RAB3GAP1_uc010fnf.2_Silent_p.G123G|RAB3GAP1_uc010fng.2_5'UTR|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	123						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)		TAAGGTATGGGCTACGTGAGT	0.403													A	135870727	G	A	135870727	2	1	63	1	0	0	0	0	0	0	0	1	12935	1190	42	2		2	RAB3GAP1	2	135870727	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	774802	135870727	107328646	257	44990											
LCT	3938	broad.mit.edu	37	chr2	136567501	136567501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgtaaccagaagggccttCgaagccatcaatgagggaac	12	10	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:136567501C>T	uc002tuu.1	-	8	2427	c.2416G>A	c.(2416-2418)GAA>AAA	p.E806K		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	806	Extracellular (Potential).|4 X approximate repeats.|2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAAGGGCCTTCGAAGCCATCA	0.448													T	136567501	C	T	136567501	3	4	63	1	0	0	0	0	1	0	0	0	8693	893	31	1	3407	1	LCT	2	136567501	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	696774	136567501	106631872	258	44991											
EPC2	26122	broad.mit.edu	37	chr2	149511608	149511608	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagggggccatccctcaTtcctcagataaaacaagaga	9	12	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:149511608T>C	uc010zbt.1	+	4	599	c.572T>C	c.(571-573)ATT>ACT	p.I191T		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2	191					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)|breast(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0516)		CCATCCCTCATTCCTCAGATA	0.408													C	149511608	T	C	149511608	3	2	63	1	0	0	0	0	1	0	0	0	5161	1493	52	3	586	3	EPC2	2	149511608	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	12944107	149511608	93687765	259	44992											
EPC2	26122	broad.mit.edu	37	chr2	149542480	149542480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacacggacttcagcaccatCgccaacagccttaaaacttg	6	14	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:149542480C>T	uc010zbt.1	+	13	2288	c.2261C>T	c.(2260-2262)TCG>TTG	p.S754L		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2	754					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)|breast(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TCAGCACCATCGCCAACAGCC	0.483													T	149542480	C	T	149542480	3	4	63	1	0	0	0	0	1	0	0	0	5161	893	31	1	2311	1	EPC2	2	149542480	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	30872	149542480	93656893	260	44993											
RIF1	55183	broad.mit.edu	37	chr2	152322592	152322592	+	Frame_Shift_Del	DEL	A	A	-													agcattttaaagagaggactAaaaagatcccaagaagatga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:152322591_152322591TA>T	uc002txm.3	+	29	6718	c.6557_6557TA>T	c.(6556-6558)ctafs	p.L2186fs	RIF1_uc002txn.3_Frame_Shift_Del_p.L2186fs|RIF1_uc002txl.3_Frame_Shift_Del_p.L2186fs|RIF1_uc002txo.3_Frame_Shift_Del_p.L2186fs|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	2186	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAGAGAGGACTAAAAAGATCC	0.433													-	152322592	A	-	152322592	7	5	63	1	0	1	0	1	0	0	0	0	13359	349	13	0	6672	0	RIF1	2	152322592	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	2780112	152322592	90876781	261	44994											
NEB	4703	broad.mit.edu	37	chr2	152500522	152500522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttctcaaagtccttcttgTactccctgtcactctggatc	5	14	4	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:152500522T>C	uc010fnx.2	-	57	7957	c.7766A>G	c.(7765-7767)TAC>TGC	p.Y2589C		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2589	Nebulin 69.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCCTTCTTGTACTCCCTGTC	0.552													C	152500522	T	C	152500522	3	2	63	1	0	0	0	0	1	0	0	0	10302	1638	57	3	18424	3	NEB	2	152500522	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	177930	152500522	90698851	262	44995											
PRPF40A	55660	broad.mit.edu	37	chr2	153551074	153551074	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accggtaaggcaggctgcatGgaagcctgagacatatgaga	14	8	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:153551074G>A	uc002tyi.2	-	3	373	c.360C>T	c.(358-360)TCC>TCT	p.S120S	PRPF40A_uc002tyh.3_Silent_p.S93S|PRPF40A_uc010zcd.1_Silent_p.S93S|PRPF40A_uc002tyj.2_5'UTR|PRPF40A_uc002tyl.1_Silent_p.S120S	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	120					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						CAGGCTGCATGGAAGCCTGAG	0.333													A	153551074	G	A	153551074	2	1	63	1	0	0	0	0	0	0	0	1	12571	1335	47	4		4	PRPF40A	2	153551074	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1050552	153551074	89648299	263	44996											
PRPF40A	55660	broad.mit.edu	37	chr2	153573824	153573824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggacaatctccgctcccCgtccccaggaccctgcgagg	11	19	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:153573824C>T	uc002tyi.2	-	1	98	c.85G>A	c.(85-87)GGG>AGG	p.G29R	ARL6IP6_uc002tyn.2_5'Flank|ARL6IP6_uc002tym.2_5'Flank|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_Intron|PRPF40A_uc010zcd.1_Intron|PRPF40A_uc002tyj.2_Intron|PRPF40A_uc002tyl.1_Missense_Mutation_p.G29R	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	29					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						CTCCGCTCCCCGTCCCCAGGA	0.657													T	153573824	C	T	153573824	3	4	63	1	0	0	0	0	1	0	0	0	12571	667	23	1		1	PRPF40A	2	153573824	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	22750	153573824	89625549	264	44997											
WDSUB1	151525	broad.mit.edu	37	chr2	160104952	160104952	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattcatcaggaattcctgAagaaagggatttaaccttgg	9	6	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:160104952A>G	uc002uaj.3	-	10	1353	c.1204T>C	c.(1204-1206)TCA>CCA	p.S402P	WDSUB1_uc002uak.3_Missense_Mutation_p.S402P|WDSUB1_uc002ual.3_Missense_Mutation_p.S402P|WDSUB1_uc002uam.3_Intron|WDSUB1_uc010foo.2_Missense_Mutation_p.S310P	NM_152528	NP_689741	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain	402						ubiquitin ligase complex	ubiquitin-protein ligase activity				0						GGAATTCCTGAAGAAAGGGAT	0.403													G	160104952	A	G	160104952	3	3	63	1	0	0	0	0	1	0	0	0	17338	246	9	3	234	3	WDSUB1	2	160104952	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	6531128	160104952	83094421	265	44998											
ITGB6	3694	broad.mit.edu	37	chr2	161052047	161052047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcgtcatccatggaggcGgagaggtccatgaggtaata	15	7	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:161052047G>A	uc002ubh.2	-	4	442	c.426C>T	c.(424-426)TCC>TCT	p.S142S	ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Silent_p.S142S|ITGB6_uc010zcq.1_Silent_p.S100S|ITGB6_uc010fov.1_Silent_p.S142S	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6 precursor	142	Extracellular (Potential).|VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3						CCATGGAGGCGGAGAGGTCCA	0.522													A	161052047	G	A	161052047	2	1	63	1	0	0	0	0	0	0	0	1	7899	1103	39	1		1	ITGB6	2	161052047	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	947095	161052047	82147326	266	44999											
KCNH7	90134	broad.mit.edu	37	chr2	163361170	163361170	+	Splice_Site	DEL	A	A	-													tgatatgattaaaaggccctAaaaaaatggaaagtatttgt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:163361169_163361169TA>T	uc002uch.2	-	6	1143	c.914_splice	c.e6-1	p.G305_splice	KCNH7_uc002uci.3_Splice_Site_p.G298_splice	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	305					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TAAAAGGCCCTAAAAAAATGG	0.373													-	163361170	A	-	163361170	8	5	63	1	0	1	0	1	0	0	1	0	8037	377	13	0		0	KCNH7	2	163361170	Splice_Site	DEL	A	TCGA-BR-8078-01A-11D-2340-08	2309123	163361170	79838203	267	45000											
COBLL1	22837	broad.mit.edu	37	chr2	165551602	165551602	+	Frame_Shift_Del	DEL	T	T	-													tcacattctcatgagtgtgcTttttccctaaagcatgcatg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:165551601_165551601CT>C	uc002ucp.3	-	11	2637	c.2415_2415AG>G	c.(2413-2415)aagfs	p.K805fs	COBLL1_uc002ucq.3_Frame_Shift_Del_p.K767fs|COBLL1_uc010zcw.2_Frame_Shift_Del_p.K872fs|COBLL1_uc010zcx.2_Frame_Shift_Del_p.K813fs|COBLL1_uc002ucn.3_Frame_Shift_Del_p.K233fs|COBLL1_uc002uco.3_Frame_Shift_Del_p.K536fs	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	843										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CATGAGTGTGCTTTTTCCCTA	0.408													-	165551602	T	-	165551602	7	5	63	1	0	1	0	1	0	0	0	0	3654	1609	56	0	1098	0	COBLL1	2	165551602	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	2190432	165551602	77647771	268	45001											
COBLL1	22837	broad.mit.edu	37	chr2	165578962	165578962	+	Frame_Shift_Del	DEL	A	A	-													cgctttttcttactgcgttgAaaaaaactgaaaaacccttt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:165578961_165578961GA>G	uc002ucp.3	-	4	955	c.733_733TC>C	c.(733-735)caafs	p.Q245fs	COBLL1_uc002ucq.3_Frame_Shift_Del_p.Q245fs|COBLL1_uc010zcw.2_Frame_Shift_Del_p.Q311fs|COBLL1_uc010zcx.2_Frame_Shift_Del_p.Q291fs|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uco.3_Frame_Shift_Del_p.Q14fs	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	283										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTACTGCGTTGAAAAAAACTG	0.269													-	165578962	A	-	165578962	7	5	63	1	0	1	0	1	0	0	0	0	3654	243	9	0	2808	0	COBLL1	2	165578962	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	27360	165578962	77620411	269	45002											
SCN3A	6328	broad.mit.edu	37	chr2	165972001	165972001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccggtttaaggtcttcttCgggttcagtttcagcttgtt	10	8	4	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:165972001C>T	uc002ucx.2	-	19	3970	c.3478G>A	c.(3478-3480)GAA>AAA	p.E1160K	SCN3A_uc002ucy.2_Missense_Mutation_p.E1111K|SCN3A_uc002ucz.2_Missense_Mutation_p.E1111K|SCN3A_uc002uda.1_Missense_Mutation_p.E980K|SCN3A_uc002udb.1_Missense_Mutation_p.E980K	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1160						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	AGGTCTTCTTCGGGTTCAGTT	0.418													T	165972001	C	T	165972001	3	4	63	1	0	0	0	0	1	0	0	0	13918	893	31	1	2564	1	SCN3A	2	165972001	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	393039	165972001	77227372	270	45003											
SCN2A	6326	broad.mit.edu	37	chr2	166237172	166237172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatctttattatttttgGttcattctttaccttgaatc	4	7	4	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:166237172G>A	uc002udc.2	+	24	4669	c.4379G>A	c.(4378-4380)GGT>GAT	p.G1460D	SCN2A_uc002udd.2_Missense_Mutation_p.G1460D|SCN2A_uc002ude.2_Missense_Mutation_p.G1460D	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1460	Helical; Name=S6 of repeat III; (Potential).|III.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	ATTATTTTTGGTTCATTCTTT	0.289													A	166237172	G	A	166237172	3	1	63	1	0	0	0	0	1	0	0	0	13916	1261	44	4	4565	4	SCN2A	2	166237172	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	265171	166237172	76962201	271	45004											
TTC21B	79809	broad.mit.edu	37	chr2	166755270	166755270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttctgaacatgagatcaGccatcatctataaagataaa	6	7	4	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:166755270G>A	uc002udk.2	-	22	3009	c.2876C>T	c.(2875-2877)GCT>GTT	p.A959V		NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	959	TPR 15.					cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						CATGAGATCAGCCATCATCTA	0.308													A	166755270	G	A	166755270	3	1	63	1	0	0	0	0	1	0	0	0	16685	971	34	2	1106	2	TTC21B	2	166755270	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	518098	166755270	76444103	272	45005											
TTC21B	79809	broad.mit.edu	37	chr2	166756333	166756333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcagtagagcacactgccGcaggcaggaatcagggtcat	13	10	2	1	rs151227843	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:166756333G>A	uc002udk.2	-	21	2948	c.2815C>T	c.(2815-2817)CGG>TGG	p.R939W		NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	939	TPR 14.		R -> W (functionally null mutation in vitro).|R -> Q (hypomorphic variant in vitro).			cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						GCACACTGCCGCAGGCAGGAA	0.443													A	166756333	G	A	166756333	3	1	63	1	0	0	0	0	1	0	0	0	16685	1086	38	1	1171	1	TTC21B	2	166756333	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1063	166756333	76443040	273	45006											
XIRP2	129446	broad.mit.edu	37	chr2	168107104	168107104	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcagcaataataaaaatagtGaacagaaagaaaataaaatt	5	3	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:168107104G>A	uc002udx.2	+	8	9220	c.9202G>A	c.(9202-9204)GAA>AAA	p.E3068K	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E2893K|XIRP2_uc010fpq.2_Missense_Mutation_p.E2846K|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2893					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TAAAAATAGTGAACAGAAAGA	0.378													A	168107104	G	A	168107104	3	1	63	1	0	0	0	0	1	0	0	0	17427	1291	45	4	9232	4	XIRP2	2	168107104	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1350771	168107104	75092269	274	45007											
XIRP2	129446	broad.mit.edu	37	chr2	168107330	168107330	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactaagaacgagctttctcAgtcccctaaaaaggacagtt	7	10	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:168107330A>G	uc002udx.2	+	8	9446	c.9428A>G	c.(9427-9429)CAG>CGG	p.Q3143R	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.Q2968R|XIRP2_uc010fpq.2_Missense_Mutation_p.Q2921R|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2968					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GAGCTTTCTCAGTCCCCTAAA	0.473													G	168107330	A	G	168107330	3	3	63	1	0	0	0	0	1	0	0	0	17427	188	7	3	9458	3	XIRP2	2	168107330	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	226	168107330	75092043	275	45008											
NOSTRIN	115677	broad.mit.edu	37	chr2	169717340	169717340	+	Frame_Shift_Del	DEL	T	T	-													tatgtgaaaatatctcggccTtttttaatgaagagattaga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:169717339_169717339CT>C	uc002ueg.3	+	13	1480	c.1214_1214CT>C	c.(1213-1215)cctfs	p.P405fs	NOSTRIN_uc002uef.3_Frame_Shift_Del_p.P462fs|NOSTRIN_uc002ueh.3_Frame_Shift_Del_p.P327fs|NOSTRIN_uc010fpu.3_Frame_Shift_Del_p.P377fs|NOSTRIN_uc002uek.3_Frame_Shift_Del_p.P89fs	NM_001039724	NP_443178	Q8IVI9	NOSTN_HUMAN	Homo sapiens nitric oxide synthase trafficker (NOSTRIN), transcript variant 2, mRNA.	405					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						ATATCTCGGCCTTTTTTAATG	0.368													-	169717340	T	-	169717340	7	5	63	1	0	1	0	1	0	0	0	0	10546	1596	56	0	1444	0	NOSTRIN	2	169717340	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	1610010	169717340	73482033	276	45009											
MYO3B	140469	broad.mit.edu	37	chr2	171399449	171399449	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagttctccaaaagggtgCgatatcttcgcaggacatgc	11	10	2	1	rs141570535	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:171399449C>T	uc002ufy.2	+	31	3752	c.3609C>T	c.(3607-3609)TGC>TGT	p.C1203C	MYO3B_uc010fqb.1_Missense_Mutation_p.A1231V|MYO3B_uc002ufz.2_Silent_p.C1176C|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	1203					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						CAAAAGGGTGCGATATCTTCG	0.358													T	171399449	C	T	171399449	2	4	63	1	0	0	0	0	0	0	0	1	10077	777	27	1		1	MYO3B	2	171399449	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1682109	171399449	71799924	277	45010											
RCAN2	10231	broad.mit.edu	37	chr2	174081950	174081950	+	Frame_Shift_Del	DEL	A	A	-													acgtttaaagatgtgggagcAaaagctgacagagcagtcca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:174081949_174081949CA>C	uc002uhz.3	+	10	1158	c.958_958CA>C	c.(958-960)caafs	p.Q320fs	RCAN2_uc002uhy.3_Frame_Shift_Del_p.Q320fs|RCAN2_uc010zei.2_Frame_Shift_Del_p.Q219fs|MLK7-AS1_uc002uib.3_Intron	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GATGTGGGAGCAAAAGCTGAC	0.522													-	174081950	A	-	174081950	7	5	63	1	0	1	0	1	0	0	0	0	13169	130	5	0		0	RCAN2	2	174081950	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	2682501	174081950	69117423	278	45011											
KIAA1715	80856	broad.mit.edu	37	chr2	176857112	176857112	+	Frame_Shift_Del	DEL	T	T	-													ataatttttgtaatctctgaTttttttccctaaattcttcc					rs77192189		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:176857112delT	uc002ukc.1	-	4	297	c.104delA	c.(103-105)AATfs	p.N35fs	KIAA1715_uc010zer.1_Frame_Shift_Del_p.N35fs|KIAA1715_uc010fqw.1_Frame_Shift_Del_p.N101fs|KIAA1715_uc010zes.1_Intron|KIAA1715_uc002ukd.1_Intron|KIAA1715_uc010zet.1_RNA	NM_030650	NP_085153	Q9C0E8	LNP_HUMAN	Lunapark	35	Potential.|Cytoplasmic (Potential).					integral to membrane	protein binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TAATCTCTGATTTTTTTCCCT	0.269													-	176857112	T	-	176857112	7	5	63	1	0	1	0	1	0	0	0	0	8254	1493	52	0	1222	0	KIAA1715	2	176857112	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	2775162	176857112	66342261	279	45012											
EVX2	344191	broad.mit.edu	37	chr2	176948462	176948462	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccgtagggctgtgcagccCtctctccatcagaatcatct	9	15	4	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:176948462C>A	uc010zeu.1	-	1	229	c.43G>T	c.(43-45)GGG>TGG	p.G15W		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	15						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CTGTGCAGCCCTCTCTCCATC	0.522													A	176948462	C	A	176948462	3	1	63	1	0	0	0	0	1	0	0	0	5295	681	24	5	1397	5	EVX2	2	176948462	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	91350	176948462	66250911	280	45013											
TTN	7273	broad.mit.edu	37	chr2	179396160	179396160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaatgatgaaacagcatacGcctctgttcttgtcagctca	7	10	4	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:179396160G>A	uc010zfg.1	-	307	97702	c.97478C>T	c.(97477-97479)GCG>GTG	p.A32493V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A26188V|TTN_uc010zfi.1_Missense_Mutation_p.A26121V|TTN_uc010zfj.1_Missense_Mutation_p.A25996V|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33420							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACAGCATACGCCTCTGTTCT	0.478													A	179396160	G	A	179396160	3	1	63	1	0	0	0	0	1	0	0	0	16732	1087	38	1	2817	1	TTN	2	179396160	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2447698	179396160	63803213	281	45014											
TTN	7273	broad.mit.edu	37	chr2	179401713	179401713	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacacttctagagggtcacTgatgccgaaagtgttctgag	13	8	3	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:179401713T>C	uc010zfg.1	-	305	92643	c.92419A>G	c.(92419-92421)AGT>GGT	p.S30807G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S24502G|TTN_uc010zfi.1_Missense_Mutation_p.S24435G|TTN_uc010zfj.1_Missense_Mutation_p.S24310G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31734							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGGGTCACTGATGCCGAAA	0.433													C	179401713	T	C	179401713	3	2	63	1	0	0	0	0	1	0	0	0	16732	1580	55	3	7884	3	TTN	2	179401713	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	5553	179401713	63797660	282	45015											
TTN	7273	broad.mit.edu	37	chr2	179402412	179402412	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccaacctcattggtggcTatgcaggtataaacaccttc	7	12	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:179402412T>C	uc010zfg.1	-	304	92042	c.91818A>G	c.(91816-91818)ATA>ATG	p.I30606M	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I24301M|TTN_uc010zfi.1_Missense_Mutation_p.I24234M|TTN_uc010zfj.1_Missense_Mutation_p.I24109M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31533							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTGGTGGCTATGCAGGTAT	0.433													C	179402412	T	C	179402412	3	2	63	1	0	0	0	0	1	0	0	0	16732	1512	53	3	8489	3	TTN	2	179402412	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	699	179402412	63796961	283	45016											
TTN	7273	broad.mit.edu	37	chr2	179443562	179443562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctcgcaacaattggctccGatttcaggccttcccctaca	7	15	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:179443562G>A	uc010zfg.1	-	269	60715	c.60491C>T	c.(60490-60492)TCG>TTG	p.S20164L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S13859L|TTN_uc010zfi.1_Missense_Mutation_p.S13792L|TTN_uc010zfj.1_Missense_Mutation_p.S13667L|uc002umv.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21091							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTGGCTCCGATTTCAGGCC	0.418													A	179443562	G	A	179443562	3	1	63	1	0	0	0	0	1	0	0	0	16732	1059	37	1	39956	1	TTN	2	179443562	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	41150	179443562	63755811	284	45017											
TTN	7273	broad.mit.edu	37	chr2	179477175	179477175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccagccttttcgcctgaCgtctctcttttccacaatgt	6	14	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:179477175C>T	uc010zfg.1	-	215	42597	c.42373G>A	c.(42373-42375)GTC>ATC	p.V14125I	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V7820I|TTN_uc010zfi.1_Missense_Mutation_p.V7753I|TTN_uc010zfj.1_Missense_Mutation_p.V7628I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15052							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCGCCTGACGTCTCTCTTT	0.463													T	179477175	C	T	179477175	3	4	63	1	0	0	0	0	1	0	0	0	16732	536	19	1	58004	1	TTN	2	179477175	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	33613	179477175	63722198	285	45018											
TTN	7273	broad.mit.edu	37	chr2	179544075	179544075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaggatgtaccttttgctgGcggaggcttctcctttttag	11	8	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:179544075G>A	uc010zfg.1	-	139	30225	c.30001C>T	c.(30001-30003)CCA>TCA	p.P10001S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6662S|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10928							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTTGCTGGCGGAGGCTTC	0.408													A	179544075	G	A	179544075	3	1	63	1	0	0	0	0	1	0	0	0	16732	1203	42	2	70680	2	TTN	2	179544075	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	66900	179544075	63655298	286	45019											
ITGAV	3685	broad.mit.edu	37	chr2	187521085	187521086	+	Frame_Shift_Ins	INS	-	-	G													aagaacatgactatttcaagINSggggggactgatgcagtgtg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:187521084_187521085A>AG	uc002upq.3	+	16	1951_1952	c.1675_1676A>AG	c.(1675-1677)aggfs	p.R559fs	ITGAV_uc010frs.3_Frame_Shift_Ins_p.R523fs|ITGAV_uc010zfv.2_Frame_Shift_Ins_p.R513fs	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	559					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431													G	187521086	-	G	187521085	7	5	63	1	0	1	1	0	0	0	0	0	7888	1000	35	0	1793	0	ITGAV	2	187521085	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	7977010	187521085	55678288	287	45020											
GULP1	51454	broad.mit.edu	37	chr2	189449083	189449083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtcttcgatgcctactcGcaatggcacacagccacctc	7	17	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:189449083G>A	uc010fru.2	+	10	1162	c.701G>A	c.(700-702)CGC>CAC	p.R234H	GULP1_uc002uqd.2_Missense_Mutation_p.R234H|GULP1_uc010zfw.1_Missense_Mutation_p.R131H|GULP1_uc002uqf.2_Missense_Mutation_p.R234H|GULP1_uc002uqg.2_Missense_Mutation_p.R234H|GULP1_uc002uqh.1_Missense_Mutation_p.R54H	NM_016315	NP_057399	Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing	234					apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			ATGCCTACTCGCAATGGCACA	0.413													A	189449083	G	A	189449083	3	1	63	1	0	0	0	0	1	0	0	0	6901	1087	38	1	731	1	GULP1	2	189449083	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1927998	189449083	53750290	288	45021											
SDPR	8436	broad.mit.edu	37	chr2	192711451	192711451	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcacagcgtctagcatGttcaccagcttgtccaggag	10	13	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:192711451G>A	uc002utb.2	-	1	531	c.201C>T	c.(199-201)AAC>AAT	p.N67N		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	67	Potential.					caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CGTCTAGCATGTTCACCAGCT	0.577													A	192711451	G	A	192711451	2	1	63	1	0	0	0	0	0	0	0	1	13970	1368	48	4		4	SDPR	2	192711451	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3262368	192711451	50487922	289	45022											
SPATS2L	26010	broad.mit.edu	37	chr2	201342603	201342603	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcccattctgaaaagccccGgcgaaggcagcacgctgcag	13	14	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:201342603G>T	uc002uvn.3	+	13	1878	c.1526G>T	c.(1525-1527)CGG>CTG	p.R509L	SPATS2L_uc010fst.2_Missense_Mutation_p.R509L|SPATS2L_uc002uvo.3_Missense_Mutation_p.R449L|SPATS2L_uc002uvp.3_Missense_Mutation_p.R509L|SPATS2L_uc002uvq.3_Missense_Mutation_p.R440L|SPATS2L_uc002uvr.3_Missense_Mutation_p.R509L|SPATS2L_uc010zhc.1_Missense_Mutation_p.R539L	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	SPATS2-like protein isoform a	509						cytoplasm|nucleolus				ovary(2)|pancreas(1)	3						GAAAAGCCCCGGCGAAGGCAG	0.597													T	201342603	G	T	201342603	3	4	63	1	0	0	0	0	1	0	0	0	15019	1116	39	5	1568	5	SPATS2L	2	201342603	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	8631152	201342603	41856770	290	45023											
FAM126B	285172	broad.mit.edu	37	chr2	201857061	201857061	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaatgatatcatcaagaacTtcctggccaaggtcccactg	7	11	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:201857061T>G	uc002uws.3	-	10	962	c.774A>C	c.(772-774)GAA>GAC	p.E258D	FAM126B_uc002uwu.2_Missense_Mutation_p.E176D|FAM126B_uc002uwv.2_Missense_Mutation_p.E258D	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	hypothetical protein LOC285172	258						intracellular				ovary(1)	1						CATCAAGAACTTCCTGGCCAA	0.338													G	201857061	T	G	201857061	3	3	63	1	0	0	0	0	1	0	0	0	5430	1606	56	5	830	5	FAM126B	2	201857061	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	514458	201857061	41342312	291	45024											
ICOS	29851	broad.mit.edu	37	chr2	204820440	204820440	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttatgcaaatatcctgacaTtgtccagcaatttaaaatgc	5	8	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:204820440T>C	uc002vam.2	+	2	207	c.140T>C	c.(139-141)ATT>ACT	p.I47T	ICOS_uc010zip.1_Missense_Mutation_p.I47T|ICOS_uc010fua.2_Missense_Mutation_p.I47T	NM_012092	NP_036224	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator precursor	47	Ig-like V-type.|Extracellular (Potential).				immune response|T cell costimulation	extracellular region					0						TATCCTGACATTGTCCAGCAA	0.373													C	204820440	T	C	204820440	3	2	63	1	0	0	0	0	1	0	0	0	7486	1493	52	3	146	3	ICOS	2	204820440	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	2963379	204820440	38378933	292	45025											
KLF7	8609	broad.mit.edu	37	chr2	207988869	207988869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggttgacggctgtgtagCtgtctagagaagagctggcc	15	9	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:207988869C>T	uc002vbz.1	-	2	684	c.362G>A	c.(361-363)AGC>AAC	p.S121N	KLF7_uc002vca.1_Missense_Mutation_p.S121N|KLF7_uc010zix.1_Missense_Mutation_p.S93N	NM_003709	NP_003700	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	121					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			central_nervous_system(1)|skin(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		GGCTGTGTAGCTGTCTAGAGA	0.572													T	207988869	C	T	207988869	3	4	63	1	0	0	0	0	1	0	0	0	8351	797	28	2	558	2	KLF7	2	207988869	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3168429	207988869	35210504	293	45026											
CRYGB	1419	broad.mit.edu	37	chr2	209010499	209010499	+	Splice_Site	DEL	G	G	-													aagacagagccacactcaccGgggggatgaggcagcaggag							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:209010498_209010498CG>C	uc002vcp.4	-	2	285	c.252_splice	c.e2+1	p.P84_splice	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_005210	NP_005201	P07316	CRGB_HUMAN	Homo sapiens crystallin, gamma B (CRYGB), mRNA.	84	Connecting peptide.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CCACACTCACCGGGGGGATGA	0.498													-	209010499	G	-	209010499	8	5	63	1	0	1	0	1	0	0	1	0	3915	1130	39	0	284	0	CRYGB	2	209010499	Splice_Site	DEL	G	TCGA-BR-8078-01A-11D-2340-08	1021630	209010499	34188874	294	45027											
CRYGD	1421	broad.mit.edu	37	chr2	209025577	209025577	+	Frame_Shift_Del	DEL	C	C	-													agccgactttggcatctgcaCccccccagtcgtggtacctt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:209025576_209025576AC>A	uc002vcq.4	-	2	494	c.477_477GT>T	c.(475-477)ggtfs	p.G159fs	CRYGD_uc021vvu.1_Intron	NM_014617	NP_055432	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma A (CRYGA), mRNA.	159	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TGGCATCTGCACCCCCCCAGT	0.527													-	209025577	C	-	209025577	7	5	63	1	0	1	0	1	0	0	0	0	3917	507	18	0		0	CRYGD	2	209025577	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	15078	209025577	34173796	295	45028											
C2orf67	151050	broad.mit.edu	37	chr2	210887719	210887719	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcctagaccaaaggttttgTattcttccattccatctgac	6	11	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:210887719T>A	uc002vds.2	-	15	3126	c.2918A>T	c.(2917-2919)TAC>TTC	p.Y973F	C2orf67_uc002vdt.2_Missense_Mutation_p.Y931F	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	973										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)		AAAGGTTTTGTATTCTTCCAT	0.388													A	210887719	T	A	210887719	3	1	63	1	0	0	0	0	1	0	0	0	2186	1638	57	5	49	5	C2orf67	2	210887719	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1862142	210887719	32311654	296	45029											
ABCA12	26154	broad.mit.edu	37	chr2	215884317	215884317	+	Frame_Shift_Del	DEL	T	T	-													ccagtcagcaaatctctcacTtttttagatatgacattgtc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:215884317delT	uc002vew.2	-	12	1711	c.1491delA	c.(1489-1491)AAAfs	p.K497fs	ABCA12_uc002vev.2_Frame_Shift_Del_p.K179fs|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	497					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AATCTCTCACTTTTTTAGATA	0.393													-	215884317	T	-	215884317	7	5	63	1	0	1	0	1	0	0	0	0	30	1606	56	0	6464	0	ABCA12	2	215884317	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	4996598	215884317	27315056	297	45030											
FN1	2335	broad.mit.edu	37	chr2	216245649	216245649	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctctgcagtgtcttcttcAccatcaggtgcagggaatag	11	10	5	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:216245649A>G	uc002vfa.2	-	33	5585	c.5319T>C	c.(5317-5319)GGT>GGC	p.G1773G	FN1_uc002vfb.2_Intron|FN1_uc002vfc.2_Intron|FN1_uc002vfd.2_Silent_p.G1773G|FN1_uc002vfe.2_Silent_p.G1682G|FN1_uc002vff.2_Silent_p.G1682G|FN1_uc002vfg.2_Intron|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Silent_p.G1773G|FN1_uc002vfj.2_Intron|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Intron|FN1_uc002vfk.1_5'Flank|FN1_uc010fva.1_5'Flank|FN1_uc010fvb.1_5'Flank|FN1_uc010fvc.1_Silent_p.G135G|FN1_uc010fvd.1_Intron	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1773	Heparin-binding 2.|Fibronectin type-III 13.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTCTTCTTCACCATCAGGTG	0.542													G	216245649	A	G	216245649	2	3	63	1	0	0	0	0	0	0	0	1	5962	146	6	3		3	FN1	2	216245649	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	361332	216245649	26953724	298	45031											
WNT6	7475	broad.mit.edu	37	chr2	219736388	219736388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggccccgcgggctccccGgaaggcagcgccgcctggga	16	18	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:219736388G>A	uc002vjc.1	+	3	698	c.483G>A	c.(481-483)CCG>CCA	p.P161P		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family,	161					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			ovary(2)|skin(1)	3		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		cgggcTCCCCGGAAGGCAGCG	0.443													A	219736388	G	A	219736388	2	1	63	1	0	0	0	0	0	0	0	1	17390	1103	39	1		1	WNT6	2	219736388	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3490739	219736388	23462985	299	45032											
CCDC108	255101	broad.mit.edu	37	chr2	219878239	219878239	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccagtgtgctggggcctcAccaggatctcccggccatgg	15	14	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:219878239A>G	uc002vjl.1	-	23	3930	c.3846_splice	c.e23+1	p.L1282_splice		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1							integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGGGGCCTCACCAGGATCTC	0.597													G	219878239	A	G	219878239	5	3	63	1	0	0	0	0	0	0	1	0	2743	173	6	3	1981	3	CCDC108	2	219878239	Splice_Site	SNP	A	TCGA-BR-8078-01A-11D-2340-08	141851	219878239	23321134	300	45033											
ACCN4	55515	broad.mit.edu	37	chr2	220379756	220379756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggtggcaatggaccccGctgccccagccccagtggcg	13	17	0	0	rs115934162	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:220379756G>A	uc002vma.2	+	1	705	c.691G>A	c.(691-693)GCT>ACT	p.A231T	ACCN4_uc010fwi.1_Missense_Mutation_p.A231T|ACCN4_uc010fwj.1_Missense_Mutation_p.A231T|ACCN4_uc002vly.1_Missense_Mutation_p.A231T|ACCN4_uc002vlz.2_Missense_Mutation_p.A231T|ACCN4_uc002vmb.2_5'Flank	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN	amiloride-sensitive cation channel 4 isoform 2	231	Extracellular (Potential).					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity			ovary(2)	2		Renal(207;0.0183)		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)		AATGGACCCCGCTGCCCCAGC	0.682													A	220379756	G	A	220379756	3	1	63	1	0	0	0	0	1	0	0	0	131	1087	38	1	693	1	ACCN4	2	220379756	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	501517	220379756	22819617	301	45034											
OBSL1	23363	broad.mit.edu	37	chr2	220421318	220421318	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctggggccctggagtgacGacggccccattgcgcagcca	14	15	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:220421318G>A	uc010fwk.2	-	13	4251	c.4194C>T	c.(4192-4194)GTC>GTT	p.V1398V	OBSL1_uc002vmh.1_Silent_p.V297V|OBSL1_uc010zli.1_Silent_p.V205V|OBSL1_uc010fwl.1_Silent_p.V873V	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1398	Ig-like 12.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CTGGAGTGACGACGGCCCCAT	0.617													A	220421318	G	A	220421318	2	1	63	1	0	0	0	0	0	0	0	1	10813	1045	37	1		1	OBSL1	2	220421318	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	41562	220421318	22778055	302	45035											
STK11IP	114790	broad.mit.edu	37	chr2	220471013	220471013	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggatgctgctactggcGtgagtgatcgtcctgtgtcc	14	11	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:220471013G>A	uc002vml.2	+	10	1021	c.978_splice	c.e10+1	p.G326_splice	STK11IP_uc010zlk.1_Missense_Mutation_p.V316M|STK11IP_uc010zll.1_Intron|STK11IP_uc002vmm.1_Splice_Site_p.G315_splice	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein						protein localization	cytoplasm	protein kinase binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTACTGGCGTGAGTGATCG	0.627											OREG0003992	type=REGULATORY REGION|Gene=STK11IP|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	220471013	G	A	220471013	5	1	63	1	0	0	0	0	0	0	1	0	15287	1159	40	1	1017	1	STK11IP	2	220471013	Splice_Site	SNP	G	TCGA-BR-8078-01A-11D-2340-08	49695	220471013	22728360	303	45036											
SLC4A3	6508	broad.mit.edu	37	chr2	220505562	220505562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatccagctgggctgcatcGcactgctctgggtggtcaag	14	12	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:220505562G>A	uc002vmp.3	+	22	3768	c.3499G>A	c.(3499-3501)GCA>ACA	p.A1167T	SLC4A3_uc002vmo.3_Missense_Mutation_p.A1194T|SLC4A3_uc010fwm.2_Missense_Mutation_p.A717T	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	1167	Membrane (anion exchange).|Helical; (Potential).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCTGCATCGCACTGCTCTG	0.652													A	220505562	G	A	220505562	3	1	63	1	0	0	0	0	1	0	0	0	14655	1087	38	1	3662	1	SLC4A3	2	220505562	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	34549	220505562	22693811	304	45037											
FAM124B	79843	broad.mit.edu	37	chr2	225266244	225266244	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtccaggacgcgaaatagcCtatcctctcccgggctttcg	10	14	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:225266244C>A	uc002vnx.2	-	1	468	c.242G>T	c.(241-243)AGG>ATG	p.R81M	FAM124B_uc002vnw.2_Missense_Mutation_p.R81M	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	hypothetical protein LOC79843 isoform a	81							protein binding			ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		GCGAAATAGCCTATCCTCTCC	0.562													A	225266244	C	A	225266244	3	1	63	1	0	0	0	0	1	0	0	0	5426	681	24	5	1224	5	FAM124B	2	225266244	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4760682	225266244	17933129	305	45038											
IRS1	3667	broad.mit.edu	37	chr2	227661217	227661217	+	Frame_Shift_Del	DEL	G	G	-													gggccgtagtagcagtcggaGgggctgctggtgttggagtc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:227661216_227661216AG>A	uc021vxn.1	-	0	2239	c.2239_2239CT>T	c.(2239-2241)tccfs	p.S747fs	IRS1_uc002voh.4_Frame_Shift_Del_p.S747fs	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	747					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TAGCAGTCGGAGGGGCTGCTG	0.602													-	227661217	G	-	227661217	7	5	63	1	0	1	0	1	0	0	0	0	7840	987	35	0	1494	0	IRS1	2	227661217	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	2394973	227661217	15538156	306	45039											
TRIP12	9320	broad.mit.edu	37	chr2	230655844	230655844	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatctaccatcttaccgtgCcataactcatcatgcttttt	3	12	4	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:230655844C>T	uc002vpw.1	-	29	4423	c.4314G>A	c.(4312-4314)TGG>TGA	p.W1438*	TRIP12_uc002vpx.1_Nonsense_Mutation_p.W1486*|TRIP12_uc002vpy.1_Nonsense_Mutation_p.W1168*	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1438					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TCTTACCGTGCCATAACTCAT	0.373													T	230655844	C	T	230655844	4	4	63	1	0	0	0	0	0	1	0	0	16553	740	26	2	1716	2	TRIP12	2	230655844	Nonsense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2994627	230655844	12543529	307	45040											
TRPM8	79054	broad.mit.edu	37	chr2	234835263	234835263	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccggaccctgtactccagCgcgtctcggagcacagactt	10	16	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:234835263C>T	uc002vvh.2	+	2	121	c.81C>T	c.(79-81)AGC>AGT	p.S27S	TRPM8_uc010fyj.2_5'UTR	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	27	Cytoplasmic (Potential).					integral to membrane				skin(4)	4		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGTACTCCAGCGCGTCTCGGA	0.507													T	234835263	C	T	234835263	2	4	63	1	0	0	0	0	0	0	0	1	16589	767	27	1		1	TRPM8	2	234835263	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4179419	234835263	8364110	308	45041											
SH3BP4	23677	broad.mit.edu	37	chr2	235949994	235949994	+	Frame_Shift_Del	DEL	T	T	-													aagtactgtggatttgctccTttttgacgcaggtacatcct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:235949993_235949993CT>C	uc002vvp.3	+	3	973	c.580_580CT>C	c.(580-582)cttfs	p.L194fs	SH3BP4_uc010fym.3_Frame_Shift_Del_p.L194fs|SH3BP4_uc002vvq.3_Frame_Shift_Del_p.L194fs	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	194					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.L193L(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGATTTGCTCCTTTTTGACGC	0.512													-	235949994	T	-	235949994	7	5	63	1	0	1	0	1	0	0	0	0	14246	1609	56	0	587	0	SH3BP4	2	235949994	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	1114731	235949994	7249379	309	45042											
AGAP1	116987	broad.mit.edu	37	chr2	236877177	236877177	+	Frame_Shift_Del	DEL	C	C	-													ccagccccaagctcgacccgCccccctcccctcacgccaac							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:236877176_236877176GC>G	uc002vvs.3	+	12	2152	c.1554_1554GC>G	c.(1552-1554)ccgfs	p.P518fs	AGAP1_uc002vvt.3_Frame_Shift_Del_p.P465fs	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	518	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGCTCGACCCGCCCCCCTCCC	0.577													-	236877177	C	-	236877177	7	5	63	1	0	1	0	1	0	0	0	0	366	739	26	0	1605	0	AGAP1	2	236877177	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	927183	236877177	6322196	310	45043											
AGAP1	116987	broad.mit.edu	37	chr2	237029036	237029036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggagacggccgcacggCgctgcatctggcctgccgca	17	14	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:237029036C>T	uc002vvs.2	+	17	2910	c.2315C>T	c.(2314-2316)GCG>GTG	p.A772V	AGAP1_uc002vvt.2_Missense_Mutation_p.A719V	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	772	ANK 1.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						GGCCGCACGGCGCTGCATCTG	0.711													T	237029036	C	T	237029036	3	4	63	1	0	0	0	0	1	0	0	0	366	768	27	1	2381	1	AGAP1	2	237029036	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	151859	237029036	6170337	311	45044											
COL6A3	1293	broad.mit.edu	37	chr2	238277416	238277416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcacaatgcccgaggaacGgatcacctgggcgaacctgg	12	13	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:238277416G>A	uc002vwl.2	-	10	4975	c.4690C>T	c.(4690-4692)CGT>TGT	p.R1564C	COL6A3_uc002vwo.2_Missense_Mutation_p.R1358C|COL6A3_uc010znj.1_Missense_Mutation_p.R957C	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1564	VWFA 8.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCCGAGGAACGGATCACCTGG	0.587													A	238277416	G	A	238277416	3	1	63	1	0	0	0	0	1	0	0	0	3701	1116	39	1	4983	1	COL6A3	2	238277416	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1248380	238277416	4921957	312	45045											
ILKAP	80895	broad.mit.edu	37	chr2	239082212	239082212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcagcgtctgatgtcggGcacagaggtgacaccgcagc	15	12	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:239082212G>A	uc002vxv.2	-	10	1049	c.919C>T	c.(919-921)CCC>TCC	p.P307S	ILKAP_uc010zns.1_Missense_Mutation_p.P239S|ILKAP_uc002vxw.2_Missense_Mutation_p.P187S	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated protein	307	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			ovary(3)	3		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		CTGATGTCGGGCACAGAGGTG	0.542													A	239082212	G	A	239082212	3	1	63	1	0	0	0	0	1	0	0	0	7714	1203	42	2	271	2	ILKAP	2	239082212	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	804796	239082212	4117161	313	45046											
PER2	8864	broad.mit.edu	37	chr2	239162216	239162216	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgggggccgggcggacacGggccccccagatccggtgct	18	15	0	1	rs146565410		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:239162216G>A	uc002vyc.2	-	19	2685	c.2448C>T	c.(2446-2448)CCC>CCT	p.P816P	PER2_uc010znv.1_Silent_p.P816P	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	816					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGGCGGACACGGGCCCCCCAG	0.602													A	239162216	G	A	239162216	2	1	63	1	0	0	0	0	0	0	0	1	11730	1103	39	1		1	PER2	2	239162216	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	80004	239162216	4037157	314	45047											
RNPEPL1	57140	broad.mit.edu	37	chr2	241516125	241516125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgacatctccaagtggaggAccttccagacagcactcttc	8	13	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:241516125A>G	uc002vzi.2	+	9	1584	c.991A>G	c.(991-993)ACC>GCC	p.T331A	RNPEPL1_uc010fzf.2_Missense_Mutation_p.T237A|RNPEPL1_uc002vzj.2_5'UTR	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like	331					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CAAGTGGAGGACCTTCCAGAC	0.682													G	241516125	A	G	241516125	3	3	63	1	0	0	0	0	1	0	0	0	13510	275	10	3	1017	3	RNPEPL1	2	241516125	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	2353909	241516125	1683248	315	45048											
CAPN10	11132	broad.mit.edu	37	chr2	241536099	241536099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtttgtcttcttggcagcGccatcagggcagtggccaag	13	10	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:241536099G>A	uc002vzk.1	+	9	1667	c.1483G>A	c.(1483-1485)GCC>ACC	p.A495T	CAPN10_uc002vzl.1_Intron|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Missense_Mutation_p.A367T|CAPN10_uc002vzo.1_Intron|CAPN10_uc010fzg.1_Intron|CAPN10_uc002vzp.1_Intron|CAPN10_uc002vzq.1_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10 isoform a	495					actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			ovary(3)|large_intestine(2)|lung(1)	6		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TCTTGGCAGCGCCATCAGGGC	0.652													A	241536099	G	A	241536099	3	1	63	1	0	0	0	0	1	0	0	0	2623	1101	38	1	1517	1	CAPN10	2	241536099	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	19974	241536099	1663274	316	45049											
ANO7	50636	broad.mit.edu	37	chr2	242128129	242128129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgccgagaccaggctcacGctgagaggtgggccatgacc	14	13	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:242128129G>A	uc002wax.2	+	1	206	c.103G>A	c.(103-105)GCT>ACT	p.A35T	ANO7_uc002waw.2_Missense_Mutation_p.A35T	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	35	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						CCAGGCTCACGCTGAGAGGTG	0.677													A	242128129	G	A	242128129	3	1	63	1	0	0	0	0	1	0	0	0	702	1087	38	1	105	1	ANO7	2	242128129	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	592030	242128129	1071244	317	45050											
HDLBP	3069	broad.mit.edu	37	chr2	242179175	242179175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaagacctggcctctgcGgatgacgaagtggcggtggt	16	11	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:242179175G>A	uc002waz.2	-	19	2680	c.2452C>T	c.(2452-2454)CGC>TGC	p.R818C	HDLBP_uc002wba.2_Missense_Mutation_p.R818C|HDLBP_uc002wbb.2_Missense_Mutation_p.R770C	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	818	KH 10.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TGGCCTCTGCGGATGACGAAG	0.567													A	242179175	G	A	242179175	3	1	63	1	0	0	0	0	1	0	0	0	7025	1116	39	1	1394	1	HDLBP	2	242179175	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	51046	242179175	1020198	318	45051											
GAL3ST2	64090	broad.mit.edu	37	chr2	242741376	242741376	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccctggctcttcctggcGcgctacgtggaaggcgtggg	15	13	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:242741376G>A	uc002wcj.1	+	3	431	c.300G>A	c.(298-300)GCG>GCA	p.A100A		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	100	Lumenal (Potential).				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TCTTCCTGGCGCGCTACGTGG	0.662													A	242741376	G	A	242741376	2	1	63	1	0	0	0	0	0	0	0	1	6198	1074	38	1		1	GAL3ST2	2	242741376	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	562201	242741376	457997	319	45052											
CNTN4	152330	broad.mit.edu	37	chr3	3078979	3078979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggattggggagcccagcCgcccctcagagaaacggaga	15	11	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:3078979C>T	uc003bpc.2	+	17	2280	c.2059C>T	c.(2059-2061)CGC>TGC	p.R687C	CNTN4_uc003bpb.1_Missense_Mutation_p.R358C|CNTN4_uc003bpd.1_Missense_Mutation_p.R687C|CNTN4_uc003bpe.2_Missense_Mutation_p.R359C|CNTN4_uc003bpf.2_Missense_Mutation_p.R358C|CNTN4_uc003bpg.2_5'Flank	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	687	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGAGCCCAGCCGCCCCTCAGA	0.522													T	3078979	C	T	3078979	3	4	63	1	0	0	0	0	1	0	0	0	3643	652	23	1	2117	1	CNTN4	3	3078979	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08		3078979	194943451	320	45053											
CRBN	51185	broad.mit.edu	37	chr3	3221317	3221317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggttaccaggcaggagcgGcaggtggttgcccatgttgt	17	9	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:3221317G>A	uc003bpq.2	-	1	74	c.55C>T	c.(55-57)CCG>TCG	p.P19S	CRBN_uc003bpr.2_Missense_Mutation_p.P19S|CRBN_uc010hbw.2_Missense_Mutation_p.P19S|CRBN_uc011aso.1_5'UTR	NM_016302	NP_057386	Q96SW2	CRBN_HUMAN	cereblon	19					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			ovary(1)	1				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		GGCAGGAGCGGCAGGTGGTTG	0.677													A	3221317	G	A	3221317	3	1	63	1	0	0	0	0	1	0	0	0	3851	1203	42	2	1317	2	CRBN	3	3221317	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	142338	3221317	194801113	321	45054											
GRM7	2917	broad.mit.edu	37	chr3	6903155	6903155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggaggtgctcctgtgcgCgctggcggcggcggcgcgcg	21	13	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:6903155C>T	uc003bqm.2	+	1	354	c.80C>T	c.(79-81)GCG>GTG	p.A27V	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.A27V|GRM7_uc003bql.2_Missense_Mutation_p.A27V	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	27					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	CTCCTGTGCGCGCTGGCGGCG	0.692													T	6903155	C	T	6903155	3	4	63	1	0	0	0	0	1	0	0	0	6802	768	27	1	82	1	GRM7	3	6903155	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3681838	6903155	191119275	322	45055											
SLC6A1	6529	broad.mit.edu	37	chr3	11059528	11059528	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtcttctttacctgcaGgagccttcctgatcccctat	6	15	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:11059528G>T	uc010hdq.2	+	4	650	c.239_splice	c.e4-1	p.G80_splice		NM_003042	NP_003033	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter						neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)|skin(1)	2		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TTTACCTGCAGGAGCCTTCCT	0.577													T	11059528	G	T	11059528	5	4	63	1	0	0	0	0	0	0	1	0	14673	1014	35	5	244	5	SLC6A1	3	11059528	Splice_Site	SNP	G	TCGA-BR-8078-01A-11D-2340-08	4156373	11059528	186962902	323	45056											
CAND2	23066	broad.mit.edu	37	chr3	12856666	12856666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagacgagtacagcgatgacGatgacatgagctggaaggtg	15	6	0	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:12856666G>A	uc003bxk.2	+	8	1082	c.1033G>A	c.(1033-1035)GAT>AAT	p.D345N	CAND2_uc003bxj.2_Missense_Mutation_p.D252N	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	345	Poly-Asp.|HEAT 8.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						CAGCGATGACGATGACATGAG	0.617													A	12856666	G	A	12856666	3	1	63	1	0	0	0	0	1	0	0	0	2616	1058	37	1	1063	1	CAND2	3	12856666	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1797138	12856666	185165764	324	45057											
IQSEC1	9922	broad.mit.edu	37	chr3	12977371	12977371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttgagtgacccccgctccGagcggtcactaaggtccaca	10	15	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:12977371G>A	uc003bxt.2	-	3	1196	c.1187C>T	c.(1186-1188)TCG>TTG	p.S396L	IQSEC1_uc003bxu.3_Missense_Mutation_p.S274L|IQSEC1_uc011auw.1_Missense_Mutation_p.S382L	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	396					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						CCCCCGCTCCGAGCGGTCACT	0.687													A	12977371	G	A	12977371	3	1	63	1	0	0	0	0	1	0	0	0	7817	1059	37	1	2297	1	IQSEC1	3	12977371	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	120705	12977371	185045059	325	45058											
NUP210	23225	broad.mit.edu	37	chr3	13363299	13363299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcttccgctgcttgtccGtcagcctgtgcattgtgatt	12	11	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:13363299G>A	uc003bxv.1	-	36	5035	c.4952C>T	c.(4951-4953)ACG>ATG	p.T1651M		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1651	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					CTGCTTGTCCGTCAGCCTGTG	0.557													A	13363299	G	A	13363299	3	1	63	1	0	0	0	0	1	0	0	0	10760	1145	40	1	731	1	NUP210	3	13363299	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	385928	13363299	184659131	326	45059											
FGD5	152273	broad.mit.edu	37	chr3	14964562	14964562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcctgcagatcgtgtgcCggaactgttcgcggaacaag	15	10	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:14964562C>T	uc003bzc.2	+	16	3927	c.3817C>T	c.(3817-3819)CGG>TGG	p.R1273W	FGD5_uc011avk.1_Missense_Mutation_p.R1273W|FGD5_uc003bzd.2_Missense_Mutation_p.R351W	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1273	FYVE-type.				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						GATCGTGTGCCGGAACTGTTC	0.622													T	14964562	C	T	14964562	3	4	63	1	0	0	0	0	1	0	0	0	5836	643	23	1	3879	1	FGD5	3	14964562	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1601263	14964562	183057868	327	45060											
CAPN7	23473	broad.mit.edu	37	chr3	15292713	15292713	+	Frame_Shift_Del	DEL	T	T	-													ttgcctaaacaagaaggaccTtttttcttggactttaatag							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:15292713delT	uc003bzn.2	+	21	2658	c.2388delT	c.(2386-2388)CCTfs	p.P796fs	uc003bzo.1_5'Flank	NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	calpain 7	796	Domain N.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1						AAGAAGGACCTTTTTTCTTGG	0.353													-	15292713	T	-	15292713	7	5	63	1	0	1	0	1	0	0	0	0	2631	1596	56	0	2470	0	CAPN7	3	15292713	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	328151	15292713	182729717	328	45061											
EOMES	8320	broad.mit.edu	37	chr3	27758575	27758575	+	Frame_Shift_Del	DEL	A	A	-													aactctttagggagttgtgtAaaaagcataataccctccca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:27758575delA	uc003cdx.2	-	6	2047	c.2047delT	c.(2047-2049)TACfs	p.Y683fs	EOMES_uc003cdy.3_Frame_Shift_Del_p.Y702fs|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Frame_Shift_Del_p.Y407fs	NM_005442	NP_005433	O95936	EOMES_HUMAN	eomesodermin	683	Required for transcription activation (By similarity).				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|breast(1)	4						GGAGTTGTGTAAAAAGCATAA	0.378													-	27758575	A	-	27758575	7	5	63	1	0	1	0	1	0	0	0	0	5147	362	13	0	17	0	EOMES	3	27758575	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	12465862	27758575	170263855	329	45062											
PDCD6IP	10015	broad.mit.edu	37	chr3	33877563	33877563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaactgattaaaacagtgGcatctcgctatgatgaatat	8	7	1	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:33877563G>A	uc003cfx.2	+	8	1017	c.862G>A	c.(862-864)GCA>ACA	p.A288T	PDCD6IP_uc003cfy.2_Missense_Mutation_p.A293T|PDCD6IP_uc011axw.1_Missense_Mutation_p.A69T	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	288	Interaction with EIAV p9.|Interaction with CHMP4A, CHMP4B and CHMP4C.|BRO1.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2						TAAAACAGTGGCATCTCGCTA	0.353													A	33877563	G	A	33877563	3	1	63	1	0	0	0	0	1	0	0	0	11624	1203	42	2	907	2	PDCD6IP	3	33877563	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	6118988	33877563	164144867	330	45063											
VILL	50853	broad.mit.edu	37	chr3	38039070	38039070	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggccaaagccccggacctcAtgcagatcatggaggctgtg	13	12	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:38039070A>G	uc003chj.2	+	7	944	c.658A>G	c.(658-660)ATG>GTG	p.M220V	VILL_uc003chk.1_Missense_Mutation_p.M220V|VILL_uc003chl.2_Missense_Mutation_p.M220V|VILL_uc010hgu.2_Missense_Mutation_p.M50V	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	220					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCCGGACCTCATGCAGATCAT	0.632													G	38039070	A	G	38039070	3	3	63	1	0	0	0	0	1	0	0	0	17162	217	8	3	680	3	VILL	3	38039070	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	4161507	38039070	159983360	331	45064											
DLEC1	9940	broad.mit.edu	37	chr3	38159370	38159370	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcccacactacttccggcTtatggtctccaggcccttct	7	16	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:38159370T>C	uc003cho.1	+	33	4580	c.4559T>C	c.(4558-4560)CTT>CCT	p.L1520P	DLEC1_uc003chp.1_Missense_Mutation_p.L1520P|DLEC1_uc010hgv.1_Missense_Mutation_p.L1523P|DLEC1_uc003chr.1_Missense_Mutation_p.L591P|DLEC1_uc003chs.1_Missense_Mutation_p.L77P	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1520					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TACTTCCGGCTTATGGTCTCC	0.607											OREG0015476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	38159370	T	C	38159370	3	2	63	1	0	0	0	0	1	0	0	0	4552	1609	56	3	4689	3	DLEC1	3	38159370	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	120300	38159370	159863060	332	45065											
SCN5A	6331	broad.mit.edu	37	chr3	38592496	38592496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatagaacatatcgaagtcGtcctcactcaggggctcggt	10	11	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:38592496G>A	uc003cio.2	-	28	5561	c.5367C>T	c.(5365-5367)GAC>GAT	p.D1789D	SCN5A_uc003cin.2_Silent_p.D1788D|SCN5A_uc003cil.3_Silent_p.D1789D|SCN5A_uc010hhi.2_Silent_p.D1771D|SCN5A_uc010hhk.2_Silent_p.D1756D|SCN5A_uc011ayr.1_Silent_p.D1735D	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1789					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TATCGAAGTCGTCCTCACTCA	0.512													A	38592496	G	A	38592496	2	1	63	1	0	0	0	0	0	0	0	1	13922	1136	40	1		1	SCN5A	3	38592496	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	433126	38592496	159429934	333	45066											
SCN5A	6331	broad.mit.edu	37	chr3	38640419	38640419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgctgaccttccagtgcGctggtgaggacgctgactgc	15	11	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:38640419G>A	uc003cio.2	-	13	2207	c.2013C>T	c.(2011-2013)AGC>AGT	p.S671S	SCN5A_uc003cin.2_Silent_p.S671S|SCN5A_uc003cil.3_Silent_p.S671S|SCN5A_uc010hhi.2_Silent_p.S671S|SCN5A_uc010hhk.2_Silent_p.S671S|SCN5A_uc011ayr.1_Silent_p.S671S|SCN5A_uc010hhj.1_Silent_p.S282S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	671					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTTCCAGTGCGCTGGTGAGGA	0.637													A	38640419	G	A	38640419	2	1	63	1	0	0	0	0	0	0	0	1	13922	1078	38	1		1	SCN5A	3	38640419	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	47923	38640419	159382011	334	45067											
SCN10A	6336	broad.mit.edu	37	chr3	38770179	38770179	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagtggaagaagtcgtgcaTgtgccagcggggccagtctt	16	8	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:38770179T>C	uc003ciq.2	-	15	2494	c.2494A>G	c.(2494-2496)ATG>GTG	p.M832V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	832	II.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AAGTCGTGCATGTGCCAGCGG	0.507													C	38770179	T	C	38770179	3	2	63	1	0	0	0	0	1	0	0	0	13912	1464	51	3	3428	3	SCN10A	3	38770179	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	129760	38770179	159252251	335	45068											
GORASP1	64689	broad.mit.edu	37	chr3	39141846	39141847	+	Frame_Shift_Ins	INS	-	-	G													tccagggaaggagagtcctcINSgggggtgggtccaggtggta							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:39141846_39141847insG	uc003ciw.1	-	6	812_813	c.714_715insC	c.(712-717)CCCGAGfs	p.P238fs	GORASP1_uc003civ.1_RNA|GORASP1_uc003cix.1_RNA|GORASP1_uc003ciy.1_RNA|GORASP1_uc011ayw.1_Frame_Shift_Ins_p.P143fs|GORASP1_uc003ciz.1_Frame_Shift_Ins_p.P83fs	NM_031899	NP_114105	Q9BQQ3	GORS1_HUMAN	Golgi reassembly stacking protein 1	238_239	Pro-rich.				mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane				ovary(2)|central_nervous_system(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GGAGAGTCCTCGGGGGTGGGTC	0.589													G	39141847	-	G	39141846	7	5	63	1	0	1	1	0	0	0	0	0	6575	893	31	0	623	0	GORASP1	3	39141846	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	371667	39141846	158880584	336	45069	163	2									
GORASP1	64689	broad.mit.edu	37	chr3	39141847	39141848	+	Frame_Shift_Ins	INS	-	-	G													ccagggaaggagagtcctcgINSggggtgggtccaggtggtag							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:39141846_39141847C>CG	uc003ciw.1	-	5	812_813	c.714_715G>CG	c.(712-717)cccgagfs	p.P238fs	GORASP1_uc003civ.1_Non-coding_Transcript|GORASP1_uc003cix.1_Non-coding_Transcript|GORASP1_uc003ciy.1_Non-coding_Transcript|GORASP1_uc011ayw.1_Frame_Shift_Ins_p.P143fs|GORASP1_uc003ciz.1_Frame_Shift_Ins_p.P83fs	NM_031899	NP_114105	Q9BQQ3	GORS1_HUMAN	Homo sapiens golgi reassembly stacking protein 1, 65kDa (GORASP1), mRNA.	238	Pro-rich.				mitotic prophase|protein transport	Golgi apparatus|cytosol|membrane				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GGAGAGTCCTCGGGGGTGGGTC	0.589													G	39141848	-	G	39141847	7	5	63	1	0	1	1	0	0	0	0	0	6575	1103	39	0	624	0	GORASP1	3	39141847	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1	39141847	158880583	337	45070	163	2									
MYRIP	25924	broad.mit.edu	37	chr3	40293447	40293447	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattctccaaggctcctcaaCaaacaggactaaggaaagga	8	11	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:40293447C>A	uc003cka.2	+	16	2639	c.2504C>A	c.(2503-2505)ACA>AAA	p.T835K	MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Missense_Mutation_p.T770K|MYRIP_uc010hhw.2_Missense_Mutation_p.T746K|MYRIP_uc011ayz.1_Missense_Mutation_p.T648K|uc003ckb.2_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	835	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GGCTCCTCAACAAACAGGACT	0.378													A	40293447	C	A	40293447	3	1	63	1	0	0	0	0	1	0	0	0	10100	478	17	5	2562	5	MYRIP	3	40293447	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1151600	40293447	157728983	338	45071											
ENTPD3	956	broad.mit.edu	37	chr3	40468948	40468951	+	Frame_Shift_Del	DEL	AAGA	AAGA	-													tacctgtgttcagcaaccagAagaaagaggcactccgagca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:40468947_40468950GAAGA>G	uc003ckd.4	+	10	1630_1633	c.1538_1541GAAGA>G	c.(1537-1542)agaagafs	p.R513fs	ENTPD3_uc010hhy.3_Frame_Shift_Del_p.R513fs|ENTPD3-AS1_uc003cke.4_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.	513						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TCAGCAACCAGAAGAAAGAGGCAC	0.539													-	40468951	AAGA	-	40468948	7	5	63	1	0	1	0	1	0	0	0	0	5140	243	9	0	1577	0	ENTPD3	3	40468948	Frame_Shift_Del	DEL	AAGA	TCGA-BR-8078-01A-11D-2340-08	175501	40468948	157553482	339	45072											
ZNF620	253639	broad.mit.edu	37	chr3	40557432	40557433	+	Frame_Shift_Ins	INS	-	-	G													gagtccttcagactgatggtINSggggggcctgccagggaatg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:40557432_40557433insG	uc003ckk.2	+	5	496_497	c.347_348insG	c.(346-348)GTGfs	p.V116fs	ZNF620_uc003ckl.2_Frame_Shift_Ins_p.V2fs	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		AGACTGATGGTGGGGGGCCTGC	0.47													G	40557433	-	G	40557432	7	5	63	1	0	1	1	0	0	0	0	0	18041	1696	59	0	361	0	ZNF620	3	40557432	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	88484	40557432	157464998	340	45073	164	2									
ZNF620	253639	broad.mit.edu	37	chr3	40557433	40557434	+	Frame_Shift_Ins	INS	-	-	G													agtccttcagactgatggtgINSgggggcctgccagggaatgt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:40557432_40557433T>TG	uc003ckk.3	+	4	496_497	c.347_348T>TG	c.(346-348)gtgfs	p.V116fs	ZNF620_uc003ckl.3_Frame_Shift_Ins_p.V2fs	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN	Homo sapiens zinc finger protein 620 (ZNF620), transcript variant 1, mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		AGACTGATGGTGGGGGGCCTGC	0.47													G	40557434	-	G	40557433	7	5	63	1	0	1	1	0	0	0	0	0	18041	1335	47	0	362	0	ZNF620	3	40557433	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1	40557433	157464997	341	45074	164	2									
ZNF197	10168	broad.mit.edu	37	chr3	44670856	44670856	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaactctgtcgccggtgGctgagaccagaagcacgcac	14	12	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:44670856G>A	uc003cnm.2	+	2	416	c.210G>A	c.(208-210)TGG>TGA	p.W70*	ZNF197_uc003cnn.2_Nonsense_Mutation_p.W70*|ZNF197_uc003cno.2_RNA|ZNF197_uc003cnp.2_Nonsense_Mutation_p.W70*	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	70	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GTCGCCGGTGGCTGAGACCAG	0.582													A	44670856	G	A	44670856	4	1	63	1	0	0	0	0	0	1	0	0	17756	1212	42	2	212	2	ZNF197	3	44670856	Nonsense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	4113423	44670856	153351574	342	45075											
CLEC3B	7123	broad.mit.edu	37	chr3	45077264	45077264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgaccggcgcccgcatcGcctacaagaactgggagact	11	14	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:45077264G>A	uc003cok.3	+	3	553	c.457G>A	c.(457-459)GCC>ACC	p.A153T	CLEC3B_uc003col.2_Missense_Mutation_p.A111T	NM_003278	NP_003269	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	153	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCCCGCATCGCCTACAAGAA	0.667													A	45077264	G	A	45077264	3	1	63	1	0	0	0	0	1	0	0	0	3511	1087	38	1	467	1	CLEC3B	3	45077264	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	406408	45077264	152945166	343	45076											
FYCO1	79443	broad.mit.edu	37	chr3	46011206	46011206	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagctgctcatgctggagctGcggctagggggtttccacag	15	10	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:46011206G>T	uc003cpb.3	-	7	797	c.591C>A	c.(589-591)CGC>CGA	p.R197R	FYCO1_uc011bal.1_Silent_p.R197R	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	197					transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TGCTGGAGCTGCGGCTAGGGG	0.542													T	46011206	G	T	46011206	2	4	63	1	0	0	0	0	0	0	0	1	6125	1306	46	5		5	FYCO1	3	46011206	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	933942	46011206	152011224	344	45077											
FYCO1	79443	broad.mit.edu	37	chr3	46014624	46014624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaagtcaaagcccctcgaCgccaggtcaaactgaacctc	7	16	2	1	rs139730012		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:46014624C>T	uc003cpb.3	-	6	701	c.495G>A	c.(493-495)GCG>GCA	p.A165A	FYCO1_uc011bal.1_Silent_p.A165A	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	165	RUN.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		AGCCCCTCGACGCCAGGTCAA	0.488													T	46014624	C	T	46014624	2	4	63	1	0	0	0	0	0	0	0	1	6125	523	19	1		1	FYCO1	3	46014624	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3418	46014624	152007806	345	45078											
PTH1R	5745	broad.mit.edu	37	chr3	46944891	46944891	+	Frame_Shift_Del	DEL	C	C	-													acaagtgtgaccaatgtcggCccccgtgtgggactcggcct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:46944890_46944890GC>G	uc003cqm.3	+	15	1729	c.1526_1526GC>G	c.(1525-1527)ggcfs	p.G509fs	PTH1R_uc021wxg.1_Frame_Shift_Del_p.G509fs	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	509						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						ACCAATGTCGGCCCCCGTGTG	0.667													-	46944891	C	-	46944891	7	5	63	1	0	1	0	1	0	0	0	0	12758	726	26	0	1581	0	PTH1R	3	46944891	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	930267	46944891	151077539	346	45079											
NBEAL2	23218	broad.mit.edu	37	chr3	47042822	47042823	+	Frame_Shift_Ins	INS	-	-	G													gacatcaaagaggcccccgtINSgggggtcctggccagcctca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:47042822_47042823insG	uc003cqp.2	+	29	4717_4718	c.4538_4539insG	c.(4537-4539)GTGfs	p.V1513fs	NBEAL2_uc010hjm.1_Frame_Shift_Ins_p.V890fs|NBEAL2_uc010hjn.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1513							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GAGGCCCCCGTGGGGGTCCTGG	0.604													G	47042823	-	G	47042822	7	5	63	1	0	1	1	0	0	0	0	0	10189	1696	59	0	4652	0	NBEAL2	3	47042822	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	97931	47042822	150979608	347	45080	165	2									
NBEAL2	23218	broad.mit.edu	37	chr3	47042823	47042824	+	Frame_Shift_Ins	INS	-	-	G													acatcaaagaggcccccgtgINSggggtcctggccagcctcac							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:47042822_47042823T>TG	uc003cqp.3	+	28	4717_4718	c.4538_4539T>TG	c.(4537-4539)gtgfs	p.V1513fs	NBEAL2_uc010hjm.2_Frame_Shift_Ins_p.V890fs|NBEAL2_uc010hjn.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1513							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GAGGCCCCCGTGGGGGTCCTGG	0.604													G	47042824	-	G	47042823	7	5	63	1	0	1	1	0	0	0	0	0	10189	1335	47	0	4653	0	NBEAL2	3	47042823	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1	47042823	150979607	348	45081	165	2									
PTPN23	25930	broad.mit.edu	37	chr3	47451532	47451532	+	Frame_Shift_Del	DEL	C	C	-													cctgaggagctgcgcagcctCccccctgacatggtggctgg					rs77776224	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:47451532delC	uc003crf.1	+	20	2340	c.2244delC	c.(2242-2244)CTCfs	p.L748fs	PTPN23_uc011baw.1_Frame_Shift_Del_p.L713fs|PTPN23_uc011bax.1_Intron|PTPN23_uc011bay.1_Frame_Shift_Del_p.L618fs	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	748	Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCGCAGCCTCCCCCCTGACA	0.701													-	47451532	C	-	47451532	7	5	63	1	0	1	0	1	0	0	0	0	12788	842	30	0	2322	0	PTPN23	3	47451532	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	408709	47451532	150570898	349	45082											
PTPN23	25930	broad.mit.edu	37	chr3	47454113	47454115	+	In_Frame_Del	DEL	AGA	AGA	-													ggccagtgcaagcatcagccAgaaggtgaggaaggttccgt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:47454112_47454114CAGA>C	uc003crf.1	+	23	4522_4524	c.4426_4428CAGA>C	c.(4426-4428)cag>C	p.Q1476del	PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_In_Frame_Del_p.Q1346del|BC067356_uc003cri.3_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	1476					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGCATCAGCCAGAAGGTGAGGA	0.586													-	47454115	AGA	-	47454113	7	5	63	1	0	1	0	1	0	0	0	0	12788	188	7	0	4521	0	PTPN23	3	47454113	In_Frame_Del	DEL	AGA	TCGA-BR-8078-01A-11D-2340-08	2581	47454113	150568317	350	45083											
ZNF589	51385	broad.mit.edu	37	chr3	48309594	48309594	+	Frame_Shift_Del	DEL	G	G	-													tccttctgataaaaatcacaGgggggctgaagcagaagatc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:48309593_48309593AG>A	uc003csl.4	+	3	478	c.412_412AG>A	c.(412-414)aggfs	p.R138fs	ZNF589_uc010hjt.2_Frame_Shift_Del_p.R135fs|ZNF589_uc003csn.3_Non-coding_Transcript|ZNF589_uc011bbg.2_Frame_Shift_Del_p.R137fs|ZNF589_uc003csm.3_Intron	NM_016089	NP_057173	Q86UQ0	ZN589_HUMAN	Homo sapiens zinc finger protein 589 (ZNF589), mRNA.	138					regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TAAAAATCACAGGGGGGCTGA	0.493													-	48309594	G	-	48309594	7	5	63	1	0	1	0	1	0	0	0	0	18018	1000	35	0	427	0	ZNF589	3	48309594	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	855481	48309594	149712836	351	45084											
NME6	10201	broad.mit.edu	37	chr3	48336260	48336260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgaagtcagggaagaagGctgcaatctctctgctggct	12	10	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:48336260G>A	uc003csp.3	-	6	479	c.428C>T	c.(427-429)GCC>GTC	p.A143V	NME6_uc003cso.2_Missense_Mutation_p.A151V|NME6_uc011bbh.1_Missense_Mutation_p.P130S|NME6_uc010hju.2_Missense_Mutation_p.A45V|NME6_uc011bbi.1_Missense_Mutation_p.A76V	NM_005793	NP_005784	O75414	NDK6_HUMAN	nucleoside diphosphate kinase type 6	143					anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity				0				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		AGGGAAGAAGGCTGCAATCTC	0.532													A	48336260	G	A	48336260	3	1	63	1	0	0	0	0	1	0	0	0	10495	1203	42	2	136	2	NME6	3	48336260	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	26666	48336260	149686170	352	45085											
PLXNB1	5364	broad.mit.edu	37	chr3	48451704	48451704	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgatgggagcggtactcaCgctctccagggacataatcc	12	12	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:48451704C>T	uc003csw.2	-	31	5875	c.5605_splice	c.e31+1	p.R1869_splice	PLXNB1_uc003cst.2_Splice_Site_p.R319_splice|PLXNB1_uc003csu.2_Splice_Site_p.R1686_splice|PLXNB1_uc003csx.2_Splice_Site_p.R1869_splice	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor						axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCGGTACTCACGCTCTCCAGG	0.622													T	48451704	C	T	48451704	5	4	63	1	0	0	0	0	0	0	1	0	12123	550	19	1	833	1	PLXNB1	3	48451704	Splice_Site	SNP	C	TCGA-BR-8078-01A-11D-2340-08	115444	48451704	149570726	353	45086											
CELSR3	1951	broad.mit.edu	37	chr3	48696997	48696997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atactgcctcccggtctagcCgccttactgtacggacaatt	8	14	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:48696997C>T	uc003cul.2	-	1	3352	c.3071G>A	c.(3070-3072)CGG>CAG	p.R1024Q	CELSR3_uc003cuf.1_Missense_Mutation_p.R1094Q	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1024	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCGGTCTAGCCGCCTTACTGT	0.547													T	48696997	C	T	48696997	3	4	63	1	0	0	0	0	1	0	0	0	3223	652	23	1	7007	1	CELSR3	3	48696997	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	245293	48696997	149325433	354	45087											
CELSR3	1951	broad.mit.edu	37	chr3	48698761	48698761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagggtctcccggtactgcGcttgctcaaaaaccggcgag	13	12	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:48698761G>A	uc003cul.2	-	1	1588	c.1307C>T	c.(1306-1308)GCG>GTG	p.A436V	CELSR3_uc003cuf.1_Missense_Mutation_p.A506V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	436	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCGGTACTGCGCTTGCTCAAA	0.682													A	48698761	G	A	48698761	3	1	63	1	0	0	0	0	1	0	0	0	3223	1087	38	1	8771	1	CELSR3	3	48698761	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1764	48698761	149323669	355	45088											
ARIH2	10425	broad.mit.edu	37	chr3	48965138	48965138	+	Frame_Shift_Del	DEL	G	G	-													gccagcgatgtggagcagcaGggggctgatgcctttgatcc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:48965138delG	uc003cvb.2	+	3	459	c.147delG	c.(145-147)CAGfs	p.Q49fs	ARIH2_uc003cvc.2_Frame_Shift_Del_p.Q49fs|ARIH2_uc003cvf.2_5'UTR|ARIH2_uc010hkl.2_Frame_Shift_Del_p.Q49fs|ARIH2_uc003cvd.1_Frame_Shift_Del_p.Q49fs|ARIH2_uc003cve.1_Frame_Shift_Del_p.Q49fs	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	49	Asp/Glu-rich (acidic).				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TGGAGCAGCAGGGGGCTGATG	0.463													-	48965138	G	-	48965138	7	5	63	1	0	1	0	1	0	0	0	0	924	991	35	0	149	0	ARIH2	3	48965138	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	266377	48965138	149057292	356	45089											
DALRD3	55152	broad.mit.edu	37	chr3	49053507	49053507	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggatactgttgaagagcaAcaaccactcaccctgttggg	11	10	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:49053507A>G	uc003cvk.1	-	10	1362	c.1342T>C	c.(1342-1344)TTG>CTG	p.L448L	DALRD3_uc003cvl.1_Intron|DALRD3_uc003cvm.1_Silent_p.L281L|DALRD3_uc010hko.1_Silent_p.L281L|DALRD3_uc011bca.1_Silent_p.C471C	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	448					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTGAAGAGCAACAACCACTCA	0.587													G	49053507	A	G	49053507	2	3	63	1	0	0	0	0	0	0	0	1	4229	40	2	3		3	DALRD3	3	49053507	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	88369	49053507	148968923	357	45090											
QRICH1	54870	broad.mit.edu	37	chr3	49094758	49094758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggcactgtacaggtggGcactgtctactgtcagtaag	13	9	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:49094758G>A	uc010hkq.2	-	4	1171	c.875C>T	c.(874-876)GCC>GTC	p.A292V	QRICH1_uc003cvu.2_Missense_Mutation_p.A292V|QRICH1_uc003cvv.2_Missense_Mutation_p.A292V	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	292	Gln-rich.									ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GTACAGGTGGGCACTGTCTAC	0.597													A	49094758	G	A	49094758	3	1	63	1	0	0	0	0	1	0	0	0	12879	1203	42	2	1487	2	QRICH1	3	49094758	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	41251	49094758	148927672	358	45091											
CCDC36	339834	broad.mit.edu	37	chr3	49294662	49294662	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctatgcaaggaggcaggaAagaatttgctctatgacctg	11	8	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:49294662A>G	uc003cwk.2	+	10	2119	c.1732A>G	c.(1732-1734)AAG>GAG	p.K578E	CCDC36_uc011bck.1_Missense_Mutation_p.K578E	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	578										ovary(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		GGAGGCAGGAAAGAATTTGCT	0.483													G	49294662	A	G	49294662	3	3	63	1	0	0	0	0	1	0	0	0	2808	15	1	3	1758	3	CCDC36	3	49294662	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	199904	49294662	148727768	359	45092											
RBM5	10181	broad.mit.edu	37	chr3	50129595	50129595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaagatctagtgatgatcGgaggggtgatagatatgatg	14	3	1	6			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:50129595G>A	uc003cyg.2	+	3	285	c.137G>A	c.(136-138)CGG>CAG	p.R46Q	RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA|RBM5_uc003cyf.2_Missense_Mutation_p.R46Q|RBM5_uc011bdj.1_Missense_Mutation_p.G24R|RBM5_uc011bdk.1_5'UTR	NM_005778	NP_005769	P52756	RBM5_HUMAN	RNA binding motif protein 5	46					apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTGATGATCGGAGGGGTGAT	0.488													A	50129595	G	A	50129595	3	1	63	1	0	0	0	0	1	0	0	0	13143	1116	39	1	143	1	RBM5	3	50129595	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	834933	50129595	147892835	360	45093											
IFRD2	7866	broad.mit.edu	37	chr3	50327898	50327898	+	Frame_Shift_Del	DEL	C	C	-													gccctgctcatccacgacatCcccccctgcaaggccacctg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:50327898delC	uc011bdp.1	-	3	505	c.376delG	c.(376-378)GATfs	p.D126fs	IFRD2_uc003czb.2_Frame_Shift_Del_p.D228fs	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	126							binding			lung(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TCCACGACATCCCCCCCTGCA	0.597													-	50327898	C	-	50327898	7	5	63	1	0	1	0	1	0	0	0	0	7554	855	30	0	1184	0	IFRD2	3	50327898	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	198303	50327898	147694532	361	45094											
DOCK3	1795	broad.mit.edu	37	chr3	51263127	51263127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctggagaagggggatttcGagagaggaggaaagagtgta	18	4	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:51263127G>A	uc011bds.1	+	15	1323	c.1300G>A	c.(1300-1302)GAG>AAG	p.E434K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	434	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GGGGGATTTCGAGAGAGGAGG	0.463													A	51263127	G	A	51263127	3	1	63	1	0	0	0	0	1	0	0	0	4688	1059	37	1	1358	1	DOCK3	3	51263127	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	935229	51263127	146759303	362	45095											
STAB1	23166	broad.mit.edu	37	chr3	52539758	52539758	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcaatgaggctgtggaCagcttgcgtgacggccgcct	14	12	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:52539758C>A	uc003dej.2	+	15	1730	c.1656C>A	c.(1654-1656)GAC>GAA	p.D552E	STAB1_uc003dei.1_Missense_Mutation_p.D552E	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	552	Extracellular (Potential).|FAS1 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGGCTGTGGACAGCTTGCGTG	0.642													A	52539758	C	A	52539758	3	1	63	1	0	0	0	0	1	0	0	0	15236	477	17	5	1714	5	STAB1	3	52539758	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1276631	52539758	145482672	363	45096											
ITIH3	3699	broad.mit.edu	37	chr3	52839838	52839838	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcagccacaccggtgagcCccgccatgtcctacctgagt	9	16	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:52839838C>A	uc003dfv.2	+	16	1924	c.1888C>A	c.(1888-1890)CCC>ACC	p.P630T	ITIH3_uc011bek.1_Intron	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	630					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACCGGTGAGCCCCGCCATGTC	0.632													A	52839838	C	A	52839838	3	1	63	1	0	0	0	0	1	0	0	0	7905	623	22	5	1950	5	ITIH3	3	52839838	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	300080	52839838	145182592	364	45097											
IL17RB	55540	broad.mit.edu	37	chr3	53894187	53894187	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgggaggctggctgcctcTcctcctgctgtctctgctgg	14	15	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:53894187T>G	uc003dha.2	+	10	917	c.878T>G	c.(877-879)CTC>CGC	p.L293R		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	interleukin 17B receptor precursor	293	Helical; (Potential).				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		TGGCTGCCTCTCCTCCTGCTG	0.448													G	53894187	T	G	53894187	3	3	63	1	0	0	0	0	1	0	0	0	7640	1551	54	5	916	5	IL17RB	3	53894187	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1054349	53894187	144128243	365	45098											
WNT5A	7474	broad.mit.edu	37	chr3	55513442	55513442	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattctttgatgcctgtcttCgcgccttctccgatgtactg	8	13	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:55513442C>T	uc003dhn.2	-	3	609	c.291G>A	c.(289-291)GCG>GCA	p.A97A	WNT5A_uc003dhm.2_Silent_p.A82A|WNT5A_uc010hmw.2_Silent_p.A82A|WNT5A_uc010hmx.2_Silent_p.A8A	NM_003392	NP_003383	P41221	WNT5A_HUMAN	wingless-type MMTV integration site family,	97					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		TGCCTGTCTTCGCGCCTTCTC	0.507													T	55513442	C	T	55513442	2	4	63	1	0	0	0	0	0	0	0	1	17388	871	31	1		1	WNT5A	3	55513442	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1619255	55513442	142508988	366	45099											
ARHGEF3	50650	broad.mit.edu	37	chr3	56789047	56789047	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggatgtaagcatctgatTgacgcacacatcgaaggtct	10	9	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:56789047T>C	uc003dig.2	-	3	506	c.337A>G	c.(337-339)AAT>GAT	p.N113D	ARHGEF3_uc011bew.1_Missense_Mutation_p.N113D|ARHGEF3_uc003dih.2_Missense_Mutation_p.N145D|ARHGEF3_uc011bev.1_Missense_Mutation_p.N84D|ARHGEF3_uc003dif.2_Missense_Mutation_p.N119D|ARHGEF3_uc010hmy.1_5'UTR|ARHGEF3_uc003dii.2_Missense_Mutation_p.N113D	NM_019555	NP_062455	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor 3 isoform	113					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		AGCATCTGATTGACGCACACA	0.572													C	56789047	T	C	56789047	3	2	63	1	0	0	0	0	1	0	0	0	904	1812	63	3	1275	3	ARHGEF3	3	56789047	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1275605	56789047	141233383	367	45100											
PTPRG	5793	broad.mit.edu	37	chr3	62248542	62248542	+	Frame_Shift_Del	DEL	A	A	-													atcatccagaaaacaagcacAaaaacagatacatcaacatt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:62248541_62248541CA>C	uc003dlb.3	+	16	3347	c.2628_2628CA>C	c.(2626-2628)cacfs	p.H876fs	PTPRG_uc003dlc.3_Frame_Shift_Del_p.H847fs|PTPRG_uc011bfi.2_Frame_Shift_Del_p.H122fs|LOC100506994_uc003dld.4_Non-coding_Transcript|LOC100506994_uc010hnp.3_Non-coding_Transcript|LOC100506994_uc003dle.4_Non-coding_Transcript|LOC100506994_uc010hno.3_Non-coding_Transcript	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	876	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AAAACAAGCACAAAAACAGAT	0.378													-	62248542	A	-	62248542	7	5	63	1	0	1	0	1	0	0	0	0	12802	131	5	0	2695	0	PTPRG	3	62248542	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	5459495	62248542	135773888	368	45101											
ADAMTS9	56999	broad.mit.edu	37	chr3	64607966	64607966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggaatattgaaagaatagCgtacatcggggttgtacaac	11	5	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:64607966C>T	uc003dmg.2	-	18	2626	c.2594G>A	c.(2593-2595)CGC>CAC	p.R865H	ADAMTS9_uc011bfo.1_Missense_Mutation_p.R837H|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R694H|ADAMTS9_uc003dmk.1_Missense_Mutation_p.R865H	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	865	Spacer.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GAAAGAATAGCGTACATCGGG	0.443													T	64607966	C	T	64607966	3	4	63	1	0	0	0	0	1	0	0	0	273	768	27	1	3301	1	ADAMTS9	3	64607966	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2359424	64607966	133414464	369	45102											
MAGI1	9223	broad.mit.edu	37	chr3	65361571	65361572	+	Frame_Shift_Ins	INS	-	-	C													cacagcggtcagcagggctcINSccctcaataatccgacctat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:65361570_65361571T>TC	uc003dmn.3	-	17	3571_3572	c.3045_3046A>GA	c.(3043-3048)gggagcfs	p.G1015fs	MAGI1_uc003dmm.3_Frame_Shift_Ins_p.G1043fs|MAGI1_uc003dmo.3_Frame_Shift_Ins_p.G1044fs|MAGI1_uc003dmp.3_Intron	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	1044	Interaction with FCHSD2.|PDZ 5.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCAGCAGGGCTCCCCTCAATAA	0.436													C	65361572	-	C	65361571	7	5	63	1	0	1	1	0	0	0	0	0	9190	842	30	0	1510	0	MAGI1	3	65361571	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	753605	65361571	132660859	370	45103											
MITF	4286	broad.mit.edu	37	chr3	69998213	69998213	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctctagttgcctgtctcGggaaacttgattgatcttta	8	9	4	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:69998213G>A	uc003dnz.2	+	6	890	c.774G>A	c.(772-774)TCG>TCA	p.S258S	MITF_uc011bgb.1_Silent_p.S206S|MITF_uc003doa.2_Silent_p.S257S|MITF_uc003dob.2_Silent_p.S242S|MITF_uc003dod.2_Silent_p.S233S|MITF_uc003doe.2_Silent_p.S151S|MITF_uc003dof.2_Silent_p.S151S	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	258	Transactivation.				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TGCCTGTCTCGGGAAACTTGA	0.428			A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome						A	69998213	G	A	69998213	2	1	63	1	0	0	0	0	0	0	0	1	9596	1103	39	1		1	MITF	3	69998213	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	4636642	69998213	128024217	371	45104											
FOXP1	27086	broad.mit.edu	37	chr3	71247446	71247446	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccctcccgaagaccgccGcactctagtaagtggttgct	10	16	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:71247446G>A	uc003dol.2	-	2	410	c.87C>T	c.(85-87)TGC>TGT	p.C29C	FOXP1_uc003dom.2_Silent_p.C29C|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Silent_p.C29C|FOXP1_uc003dop.2_Silent_p.C29C|FOXP1_uc003doq.1_Silent_p.C29C|FOXP1_uc003dos.2_Silent_p.C29C	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	29					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GAAGACCGCCGCACTCTAGTA	0.602			T	PAX5	ALL								A	71247446	G	A	71247446	2	1	63	1	0	0	0	0	0	0	0	1	6026	1079	38	1		1	FOXP1	3	71247446	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1249233	71247446	126774984	372	45105											
VGLL3	389136	broad.mit.edu	37	chr3	87027688	87027688	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attcttacctcgccatagggGggttagccccatcttgcttt	9	12	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:87027688G>T	uc003dqn.2	-	2	755	c.391C>A	c.(391-393)CCC>ACC	p.P131T		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CGCCATAGGGGGGTTAGCCCC	0.507													T	87027688	G	T	87027688	3	4	63	1	0	0	0	0	1	0	0	0	17157	1232	43	5	601	5	VGLL3	3	87027688	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	15780242	87027688	110994742	373	45106											
EPHA6	285220	broad.mit.edu	37	chr3	96533512	96533512	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaggagctccccggcgccGcaggcagcgtcctcctccga	14	18	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:96533512G>A	uc010how.1	+	1	88	c.45G>A	c.(43-45)CCG>CCA	p.P15P	EPHA6_uc003drp.1_Silent_p.P15P	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	Error:Variant_position_missing_in_Q9UF33_after_alignment						integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						CCCCGGCGCCGCAGGCAGCGT	0.711													A	96533512	G	A	96533512	2	1	63	1	0	0	0	0	0	0	0	1	5171	1074	38	1		1	EPHA6	3	96533512	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	9505824	96533512	101488918	374	45107											
MINA	84864	broad.mit.edu	37	chr3	97686167	97686167	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatagtacatcccccggcTgcacagactcttcagatctg	7	15	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:97686167T>C	uc003drz.1	-	2	777	c.271A>G	c.(271-273)AGC>GGC	p.S91G	MINA_uc003dsa.1_Missense_Mutation_p.S91G|MINA_uc003dsb.1_Missense_Mutation_p.S91G|MINA_uc003dsc.1_Missense_Mutation_p.S91G|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_Intron	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen isoform a	91					ribosome biogenesis	cytoplasm|nucleolus				ovary(1)	1						ATCCCCCGGCTGCACAGACTC	0.478													C	97686167	T	C	97686167	3	2	63	1	0	0	0	0	1	0	0	0	9586	1580	55	3	1162	3	MINA	3	97686167	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1152655	97686167	100336263	375	45108											
FILIP1L	11259	broad.mit.edu	37	chr3	99568273	99568273	+	Frame_Shift_Del	DEL	T	T	-													ctgttttcttgttgatttagTtttttttgcaggactgagtg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:99568272_99568272GT>G	uc003dtm.3	-	4	2711	c.2248_2248AC>C	c.(2248-2250)ctafs	p.L750fs	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Frame_Shift_Del_p.L750fs|FILIP1L_uc010hpf.3_Frame_Shift_Del_p.L326fs|FILIP1L_uc010hpg.3_Frame_Shift_Del_p.L510fs|FILIP1L_uc003dtn.3_Frame_Shift_Del_p.L510fs|FILIP1L_uc021xbr.1_Frame_Shift_Del_p.L510fs|FILIP1L_uc003dtp.1_Frame_Shift_Del_p.L510fs	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	750						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGTTGATTTAGTTTTTTTTGC	0.403													-	99568273	T	-	99568273	7	5	63	1	0	1	0	1	0	0	0	0	5895	1722	60	0	1189	0	FILIP1L	3	99568273	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	1882106	99568273	98454157	376	45109											
NIT2	56954	broad.mit.edu	37	chr3	100074044	100074044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagaagctggctgaaataCgccagcaaatccccgttttt	9	10	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:100074044C>T	uc003dtv.2	+	10	837	c.763C>T	c.(763-765)CGC>TGC	p.R255C		NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	255	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			ovary(1)	1						GGCTGAAATACGCCAGCAAAT	0.418													T	100074044	C	T	100074044	3	4	63	1	0	0	0	0	1	0	0	0	10434	536	19	1	801	1	NIT2	3	100074044	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	505771	100074044	97948386	377	45110											
ABI3BP	25890	broad.mit.edu	37	chr3	100621530	100621530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagatatttcggctctgcaTctggaagcaataacattatt	7	8	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:100621530T>C	uc003dun.2	-	3	366	c.281A>G	c.(280-282)GAT>GGT	p.D94G	ABI3BP_uc003duo.2_Missense_Mutation_p.D87G|ABI3BP_uc003dup.3_Missense_Mutation_p.D87G	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	94						extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						CGGCTCTGCATCTGGAAGCAA	0.433													C	100621530	T	C	100621530	3	2	63	1	0	0	0	0	1	0	0	0	91	1449	50	3	3078	3	ABI3BP	3	100621530	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	547486	100621530	97400900	378	45111											
CEP97	79598	broad.mit.edu	37	chr3	101477207	101477207	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagccaaagatgtgcgttAcgaaatccggctacgcagaa	10	10	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:101477207A>G	uc003dvk.1	+	9	1784	c.1757A>G	c.(1756-1758)TAC>TGC	p.Y586C	CEP97_uc010hpm.1_Missense_Mutation_p.Y552C|CEP97_uc011bhf.1_Missense_Mutation_p.Y527C|CEP97_uc003dvl.1_Missense_Mutation_p.Y282C|CEP97_uc003dvm.1_Missense_Mutation_p.Y424C	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	586	IQ.|CEP110 binding.					centrosome|nucleus	protein binding			ovary(2)	2						GATGTGCGTTACGAAATCCGG	0.463													G	101477207	A	G	101477207	3	3	63	1	0	0	0	0	1	0	0	0	3263	391	14	3	1791	3	CEP97	3	101477207	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	855677	101477207	96545223	379	45112											
FAM55C	91775	broad.mit.edu	37	chr3	101525973	101525973	+	Splice_Site	DEL	A	A	-													ttcccaggagaataaaaggtAaaaaaaagaataagcttgat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:101525972_101525972TA>T	uc003dvn.3	+	6	1559	c.922_splice	c.e6+2	p.E308_splice	FAM55C_uc010hpn.3_Splice_Site_p.E308_splice	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	308						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						GAATAAAAGGTAAAAAAAAGA	0.353													-	101525973	A	-	101525973	8	5	63	1	0	1	0	1	0	0	1	0	5586	377	13	0		0	FAM55C	3	101525973	Splice_Site	DEL	A	TCGA-BR-8078-01A-11D-2340-08	48766	101525973	96496457	380	45113											
ZPLD1	131368	broad.mit.edu	37	chr3	102196407	102196407	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcactggcccttctgcacaGgaagggacccacaagtttag	10	13	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:102196407G>T	uc003dvs.1	+	18	2075	c.1193G>T	c.(1192-1194)AGG>ATG	p.R398M	ZPLD1_uc003dvt.1_Missense_Mutation_p.R414M|ZPLD1_uc011bhg.1_Missense_Mutation_p.R398M	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	398	Cytoplasmic (Potential).					integral to membrane				ovary(2)|skin(2)|central_nervous_system(1)	5						CTTCTGCACAGGAAGGGACCC	0.478													T	102196407	G	T	102196407	3	4	63	1	0	0	0	0	1	0	0	0	18218	1000	35	5	1283	5	ZPLD1	3	102196407	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	670434	102196407	95826023	381	45114											
MYH15	22989	broad.mit.edu	37	chr3	108159966	108159966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattcatcttcgagtttccGccccctggcagtcagctcag	8	15	4	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:108159966G>A	uc003dxa.1	-	24	2914	c.2857C>T	c.(2857-2859)CGG>TGG	p.R953W		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	953	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						TCGAGTTTCCGCCCCCTGGCA	0.473													A	108159966	G	A	108159966	3	1	63	1	0	0	0	0	1	0	0	0	10034	1086	38	1	3059	1	MYH15	3	108159966	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	5963559	108159966	89862464	382	45115											
DZIP3	9666	broad.mit.edu	37	chr3	108363342	108363342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggatggaatatggaaccGccatcttctgacatctctaa	8	9	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:108363342G>A	uc003dxd.2	+	14	1895	c.1473G>A	c.(1471-1473)CCG>CCA	p.P491P	DZIP3_uc003dxf.1_Silent_p.P491P|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Silent_p.P491P|DZIP3_uc003dxg.1_Silent_p.P214P	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	491					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						ATATGGAACCGCCATCTTCTG	0.413													A	108363342	G	A	108363342	2	1	63	1	0	0	0	0	0	0	0	1	4865	1074	38	1		1	DZIP3	3	108363342	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	203376	108363342	89659088	383	45116											
PVRL3	25945	broad.mit.edu	37	chr3	110852822	110852822	+	Frame_Shift_Del	DEL	A	A	-													gattcttacccagacagtgtAaaaaaagaaaacaaaaatcc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:110852821_110852821TA>T	uc003dxt.2	+	5	1668	c.1409_1409TA>T	c.(1408-1410)gtafs	p.V470fs	PVRL3_uc003dxu.2_Intron|PVRL3_uc021xch.1_3'UTR	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	Homo sapiens poliovirus receptor-related 3 (PVRL3), transcript variant 1, mRNA.	470					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						CCAGACAGTGTAAAAAAAGAA	0.338													-	110852822	A	-	110852822	7	5	63	1	0	1	0	1	0	0	0	0	12841	349	13	0	1432	0	PVRL3	3	110852822	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	2489480	110852822	87169608	384	45117											
SLC9A10	285335	broad.mit.edu	37	chr3	111983101	111983101	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatagtatatatcaacaaatTctatatacaaatatgtatgt	3	4	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:111983101T>C	uc003dyu.2	-	9	1190	c.968A>G	c.(967-969)GAA>GGA	p.E323G	SLC9A10_uc011bhu.1_Intron|SLC9A10_uc010hqc.2_Intron	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	323					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5						ATCAACAAATTCTATATACAA	0.264													C	111983101	T	C	111983101	3	2	63	1	0	0	0	0	1	0	0	0	14710	1783	62	3	2649	3	SLC9A10	3	111983101	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1130279	111983101	86039329	385	45118											
CCDC80	151887	broad.mit.edu	37	chr3	112357269	112357269	+	Frame_Shift_Del	DEL	T	T	-													gaattttgtcctgggccttcTttttgggaggtttctccttt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:112357269delT	uc003dzf.2	-	2	1702	c.1484delA	c.(1483-1485)AAGfs	p.K495fs	CCDC80_uc011bhv.1_Frame_Shift_Del_p.K495fs|CCDC80_uc003dzg.2_Frame_Shift_Del_p.K495fs|CCDC80_uc003dzh.1_Frame_Shift_Del_p.K495fs	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	495	Lys-rich.									ovary(2)	2						CTGGGCCTTCTTTTTGGGAGG	0.557													-	112357269	T	-	112357269	7	5	63	1	0	1	0	1	0	0	0	0	2854	1609	56	0	1396	0	CCDC80	3	112357269	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	374168	112357269	85665161	386	45119											
BOC	91653	broad.mit.edu	37	chr3	112992173	112992173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatgccgtagtccagctgCggacctccaggccaagtgag	12	15	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:112992173C>T	uc003dzx.2	+	8	1840	c.1219C>T	c.(1219-1221)CGG>TGG	p.R407W	BOC_uc003dzy.2_Missense_Mutation_p.R407W|BOC_uc003dzz.2_Missense_Mutation_p.R407W|BOC_uc003eab.2_Missense_Mutation_p.R108W	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	407	Ig-like C2-type 4.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			AGTCCAGCTGCGGACCTCCAG	0.502													T	112992173	C	T	112992173	3	4	63	1	0	0	0	0	1	0	0	0	1481	759	27	1	1241	1	BOC	3	112992173	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	634904	112992173	85030257	387	45120											
BOC	91653	broad.mit.edu	37	chr3	113003371	113003371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggctgcagtgggctaccCgggcatgaagccccagcagc	14	15	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:113003371C>T	uc003dzx.2	+	17	3464	c.2843C>T	c.(2842-2844)CCG>CTG	p.P948L	BOC_uc003dzy.2_Missense_Mutation_p.P948L|BOC_uc003dzz.2_Missense_Mutation_p.P949L|BOC_uc003eab.2_Missense_Mutation_p.P649L|BOC_uc003eac.2_Missense_Mutation_p.P263L	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	948	Cytoplasmic (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			GTGGGCTACCCGGGCATGAAG	0.647													T	113003371	C	T	113003371	3	4	63	1	0	0	0	0	1	0	0	0	1481	652	23	1	2901	1	BOC	3	113003371	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	11198	113003371	85019059	388	45121											
IGSF11	152404	broad.mit.edu	37	chr3	118621453	118621453	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcgtggctgatggtgtAggaatgagtgtgtggaggcc	19	4	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:118621453A>G	uc003ebw.2	-	7	1457	c.1210T>C	c.(1210-1212)TAC>CAC	p.Y404H	IGSF11_uc011biv.1_Missense_Mutation_p.Y376H|IGSF11_uc003ebx.2_Missense_Mutation_p.Y380H|IGSF11_uc003eby.2_Missense_Mutation_p.Y403H|IGSF11_uc003ebz.2_Missense_Mutation_p.Y379H|IGSF11_uc010hqs.2_Missense_Mutation_p.Y403H	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	404	Cytoplasmic (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0						CTGATGGTGTAGGAATGAGTG	0.552													G	118621453	A	G	118621453	3	3	63	1	0	0	0	0	1	0	0	0	7598	420	15	3	89	3	IGSF11	3	118621453	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	5618082	118621453	79400977	389	45122											
KTELC1	56983	broad.mit.edu	37	chr3	119198988	119198988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatcctacaggtcttggaCggtgggacctcttcagagaa	11	9	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:119198988C>T	uc003ecm.2	+	5	631	c.547C>T	c.(547-549)CGG>TGG	p.R183W	KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Missense_Mutation_p.R24W	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor	183						endoplasmic reticulum lumen	UDP-glucosyltransferase activity				0				GBM - Glioblastoma multiforme(114;0.233)		AGGTCTTGGACGGTGGGACCT	0.408													T	119198988	C	T	119198988	3	4	63	1	0	0	0	0	1	0	0	0	8583	527	19	1	565	1	KTELC1	3	119198988	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	577535	119198988	78823442	390	45123											
GOLGB1	2804	broad.mit.edu	37	chr3	121395743	121395743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacaagaaacacttacgttGctgttcagttgctgaattct	7	8	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:121395743G>A	uc003eei.3	-	17	9285	c.9159C>T	c.(9157-9159)AGC>AGT	p.S3053S	GOLGB1_uc010hrc.2_Silent_p.S3058S|GOLGB1_uc003eej.3_Silent_p.S3019S	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	3053	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		CACTTACGTTGCTGTTCAGTT	0.403													A	121395743	G	A	121395743	2	1	63	1	0	0	0	0	0	0	0	1	6565	1310	46	2		2	GOLGB1	3	121395743	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2196755	121395743	76626687	391	45124											
DTX3L	151636	broad.mit.edu	37	chr3	122289345	122289345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagataccctggaatacagcGaactgcatacttgcctgata	9	10	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:122289345G>A	uc003efk.2	+	4	2068	c.1979G>A	c.(1978-1980)CGA>CAA	p.R660Q	DTX3L_uc010hrj.2_Missense_Mutation_p.R148Q	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	deltex 3-like	660					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)	4				GBM - Glioblastoma multiforme(114;0.0459)		GGAATACAGCGAACTGCATAC	0.418													A	122289345	G	A	122289345	3	1	63	1	0	0	0	0	1	0	0	0	4796	1058	37	1	1993	1	DTX3L	3	122289345	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	893602	122289345	75733085	392	45125											
PARP14	54625	broad.mit.edu	37	chr3	122399864	122399864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcggcgagtgtgaggtccGccaggatcccaggagcccat	16	12	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:122399864G>A	uc003efq.3	+	1	193	c.134G>A	c.(133-135)CGC>CAC	p.R45H		NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		TGTGAGGTCCGCCAGGATCCC	0.672													A	122399864	G	A	122399864	3	1	63	1	0	0	0	0	1	0	0	0	11458	1087	38	1	136	1	PARP14	3	122399864	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	110519	122399864	75622566	393	45126											
SEMA5B	54437	broad.mit.edu	37	chr3	122631702	122631702	+	Frame_Shift_Del	DEL	G	G	-													agggttacctgggcaagcctGggggttgcagtcctggtact							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:122631701_122631701TG>T	uc003efz.1	-	17	3018	c.2714_2714CA>A	c.(2713-2715)cagfs	p.Q905fs	SEMA5B_uc011bju.1_Frame_Shift_Del_p.Q847fs|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Frame_Shift_Del_p.Q905fs|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	905	TSP type-1 3.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGGGCAAGCCTGGGGGTTGCA	0.677													-	122631702	G	-	122631702	7	5	63	1	0	1	0	1	0	0	0	0	14038	1357	47	0	766	0	SEMA5B	3	122631702	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	231838	122631702	75390728	394	45127											
SEMA5B	54437	broad.mit.edu	37	chr3	122634315	122634315	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttggcgatgtggatggctgGccccaggcagtcaaggcccc	16	12	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:122634315G>T	uc003efz.1	-	14	2264	c.1960C>A	c.(1960-1962)CCA>ACA	p.P654T	SEMA5B_uc011bju.1_Missense_Mutation_p.P596T|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.P654T|SEMA5B_uc010hro.1_Missense_Mutation_p.P596T	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	654	Extracellular (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		TGGATGGCTGGCCCCAGGCAG	0.607													T	122634315	G	T	122634315	3	4	63	1	0	0	0	0	1	0	0	0	14038	1203	42	5	1535	5	SEMA5B	3	122634315	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2613	122634315	75388115	395	45128											
MYLK	4638	broad.mit.edu	37	chr3	123368044	123368045	+	Splice_Site	INS	-	-	G													cacttcatccttcggctctgINSgggggggcacaaggaaggac					rs138786404		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:123368043_123368044T>TG	uc003ego.3	-	25	4571	c.4289_splice	c.e25-1	p.E1430_splice	MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.E230_splice|MYLK_uc011bjw.2_Splice_Site_p.E1430_splice|MYLK_uc003egp.3_Splice_Site_p.E1361_splice|MYLK_uc003egq.3_Splice_Site_p.E1430_splice|MYLK_uc003egr.3_Splice_Site_p.E1361_splice|MYLK_uc003egs.3_Splice_Site_p.E1254_splice	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1430	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCAC	0.624													G	123368045	-	G	123368044	8	5	63	1	0	1	1	0	0	0	1	0	10056	1363	47	0		0	MYLK	3	123368044	Splice_Site	INS	-	TCGA-BR-8078-01A-11D-2340-08	733729	123368044	74654386	396	45129											
CCDC14	64770	broad.mit.edu	37	chr3	123665727	123665727	+	Frame_Shift_Del	DEL	T	T	-													tttcagctgtcttgttcacaTtttttgccttctgtacatcc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:123665726_123665726AT>A	uc011bjx.2	-	7	1360	c.1269_1269AT>T	c.(1267-1269)aatfs	p.N423fs	CCDC14_uc003egv.4_Intron|CCDC14_uc003egx.4_Frame_Shift_Del_p.N223fs|CCDC14_uc010hrt.3_Frame_Shift_Del_p.N382fs|CCDC14_uc003egy.4_Frame_Shift_Del_p.N223fs|CCDC14_uc003egz.2_Frame_Shift_Del_p.N223fs	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	Homo sapiens coiled-coil domain containing 14 (CCDC14), mRNA.	423						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TCTTGTTCACATTTTTTGCCT	0.388													-	123665727	T	-	123665727	7	5	63	1	0	1	0	1	0	0	0	0	2773	1493	52	0	1617	0	CCDC14	3	123665727	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	297683	123665727	74356703	397	45130											
KALRN	8997	broad.mit.edu	37	chr3	124438053	124438053	+	Frame_Shift_Del	DEL	C	C	-													tgcagggtggatttcagcttCccccatgaatacttctgtgg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:124438053delC	uc003ehg.2	+	60	8824	c.8697delC	c.(8695-8697)TTCfs	p.F2899fs	KALRN_uc003ehk.2_Frame_Shift_Del_p.F1202fs	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2898	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						ATTTCAGCTTCCCCCATGAAT	0.502													-	124438053	C	-	124438053	7	5	63	1	0	1	0	1	0	0	0	0	7975	854	30	0	9091	0	KALRN	3	124438053	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	772326	124438053	73584377	398	45131											
HEG1	57493	broad.mit.edu	37	chr3	124731472	124731472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgactgtgttttacctgagGctgaagaggacactgttgtt	13	6	0	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:124731472G>A	uc003ehs.3	-	6	3019	c.2951C>T	c.(2950-2952)GCC>GTC	p.A984V	HEG1_uc011bke.1_Missense_Mutation_p.A1084V	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	984	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						TTTACCTGAGGCTGAAGAGGA	0.498													A	124731472	G	A	124731472	3	1	63	1	0	0	0	0	1	0	0	0	7044	1203	42	2	1242	2	HEG1	3	124731472	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	293419	124731472	73290958	399	45132											
ZNF148	7707	broad.mit.edu	37	chr3	125032219	125032219	+	Frame_Shift_Del	DEL	T	T	-													tttccatctgctcttcatcaTttttcactgtctcctcatgg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:125032218_125032218AT>A	uc003ehx.4	-	3	753	c.267_267AT>T	c.(265-267)aatfs	p.N89fs	ZNF148_uc003ehz.4_Frame_Shift_Del_p.N89fs|ZNF148_uc010hsa.3_Frame_Shift_Del_p.N89fs|ZNF148_uc003eia.4_Frame_Shift_Del_p.N89fs|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	89					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						GCTCTTCATCATTTTTCACTG	0.368													-	125032219	T	-	125032219	7	5	63	1	0	1	0	1	0	0	0	0	17731	1493	52	0	2142	0	ZNF148	3	125032219	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	300747	125032219	72990211	400	45133											
PLXND1	23129	broad.mit.edu	37	chr3	129305017	129305017	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtgtccagcctcaccgCgtctccagggcacaccagcc	11	18	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:129305017C>T	uc003emx.2	-	4	1819	c.1719G>A	c.(1717-1719)ACG>ACA	p.T573T		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	573	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						AGCCTCACCGCGTCTCCAGGG	0.692													T	129305017	C	T	129305017	2	4	63	1	0	0	0	0	0	0	0	1	12127	755	27	1		1	PLXND1	3	129305017	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4272798	129305017	68717413	401	45134											
CPNE4	131034	broad.mit.edu	37	chr3	131388544	131388544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggcggtctgggtctccgCtgcatagagaatttacagat	13	10	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:131388544C>T	uc003eok.2	-	7	1091	c.656G>A	c.(655-657)AGC>AAC	p.S219N	CPNE4_uc011blq.1_Missense_Mutation_p.S237N|CPNE4_uc003eol.2_Missense_Mutation_p.S237N|CPNE4_uc003eom.2_Missense_Mutation_p.S219N	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	219	C2 2.									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TGGGTCTCCGCTGCATAGAGA	0.388													T	131388544	C	T	131388544	3	4	63	1	0	0	0	0	1	0	0	0	3814	797	28	2	1057	2	CPNE4	3	131388544	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2083527	131388544	66633886	402	45135											
DZIP1L	199221	broad.mit.edu	37	chr3	137822384	137822384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcatcttgcgacgccggcGgctctcctcccgcacaccct	9	19	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:137822384G>A	uc003erq.2	-	2	793	c.430C>T	c.(430-432)CGC>TGC	p.R144C	DZIP1L_uc003err.1_Missense_Mutation_p.R144C	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	144						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						CGACGCCGGCGGCTCTCCTCC	0.657													A	137822384	G	A	137822384	3	1	63	1	0	0	0	0	1	0	0	0	4864	1116	39	1	1942	1	DZIP1L	3	137822384	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	6433840	137822384	60200046	403	45136											
DZIP1L	199221	broad.mit.edu	37	chr3	137822423	137822423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgagctcgtcagcctggcGtcccagctcctgctgaccac	10	17	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:137822423G>A	uc003erq.2	-	2	754	c.391C>T	c.(391-393)CGC>TGC	p.R131C	DZIP1L_uc003err.1_Missense_Mutation_p.R131C	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	131						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						TCAGCCTGGCGTCCCAGCTCC	0.662													A	137822423	G	A	137822423	3	1	63	1	0	0	0	0	1	0	0	0	4864	1145	40	1	1981	1	DZIP1L	3	137822423	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	39	137822423	60200007	404	45137											
DBR1	51163	broad.mit.edu	37	chr3	137892418	137892418	+	Frame_Shift_Del	DEL	C	C	-													gatttgaggcttcatggtttCccccaatgaagagcgtgaga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:137892418delC	uc003erv.2	-	2	384	c.248delG	c.(247-249)GGAfs	p.G83fs	DBR1_uc003eru.2_Frame_Shift_Del_p.G32fs	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	83						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						TTCATGGTTTCCCCCAATGAA	0.413													-	137892418	C	-	137892418	7	5	63	1	0	1	0	1	0	0	0	0	4257	855	30	0	1414	0	DBR1	3	137892418	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	69995	137892418	60130012	405	45138											
ARMC8	25852	broad.mit.edu	37	chr3	137953909	137953909	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaacaattttatttaaccacGgtgcagttcagaatattgct	6	7	1	1	rs139253596		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:137953909G>T	uc003esa.1	+	8	887	c.520G>T	c.(520-522)GGT>TGT	p.G174C	ARMC8_uc003erw.2_Missense_Mutation_p.G174C|ARMC8_uc003erx.2_Missense_Mutation_p.G174C|ARMC8_uc003ery.2_Missense_Mutation_p.G146C|ARMC8_uc003erz.2_Missense_Mutation_p.G146C|ARMC8_uc011bmf.1_Missense_Mutation_p.G157C|ARMC8_uc011bmg.1_Missense_Mutation_p.G188C|ARMC8_uc011bmh.1_Missense_Mutation_p.G115C|ARMC8_uc003esb.1_Missense_Mutation_p.G146C|ARMC8_uc003esc.1_5'Flank	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8 isoform 2	188	ARM 4.						binding				0						ATTTAACCACGGTGCAGTTCA	0.333													T	137953909	G	T	137953909	3	4	63	1	0	0	0	0	1	0	0	0	957	1116	39	5	546	5	ARMC8	3	137953909	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	61491	137953909	60068521	406	45139											
PIK3CB	5291	broad.mit.edu	37	chr3	138413710	138413710	+	Frame_Shift_Del	DEL	G	G	-													cagaagctctagggcctcccGggggggcagtttaggccaaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:138413709_138413709CG>C	uc011bmq.2	-	11	1811	c.1811_1811CG>G	c.(1810-1812)cggfs	p.R604fs	PIK3CB_uc011bmn.2_Frame_Shift_Del_p.R116fs|PIK3CB_uc011bmo.2_Frame_Shift_Del_p.R50fs|PIK3CB_uc011bmp.2_Frame_Shift_Del_p.R191fs	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	604	PI3K helical.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TAGGGCCTCCCGGGGGGGCAG	0.468													-	138413710	G	-	138413710	7	5	63	1	0	1	0	1	0	0	0	0	11914	1115	39	0	1444	0	PIK3CB	3	138413710	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	459801	138413710	59608720	407	45140											
CLSTN2	64084	broad.mit.edu	37	chr3	140282887	140282887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggtgtgtaccgggtccGgatcgcccaccagcacttca	12	14	1	0	rs140778211		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:140282887G>A	uc003etn.2	+	16	2757	c.2567G>A	c.(2566-2568)CGG>CAG	p.R856Q		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	856	Cytoplasmic (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						TACCGGGTCCGGATCGCCCAC	0.547										HNSCC(16;0.037)			A	140282887	G	A	140282887	3	1	63	1	0	0	0	0	1	0	0	0	3562	1116	39	1	2629	1	CLSTN2	3	140282887	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1869177	140282887	57739543	408	45141											
ZBTB38	253461	broad.mit.edu	37	chr3	141162875	141162875	+	Frame_Shift_Del	DEL	A	A	-													atcatagactttccatcagtAaaaaaacagcaaatggaggc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:141162875delA	uc003etw.2	+	8	2627	c.1645delA	c.(1645-1647)AAAfs	p.K549fs	ZBTB38_uc010hun.2_Frame_Shift_Del_p.K546fs|ZBTB38_uc010huo.2_Frame_Shift_Del_p.K549fs|ZBTB38_uc003ety.2_Frame_Shift_Del_p.K549fs|ZBTB38_uc010hup.2_Frame_Shift_Del_p.K550fs	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	549					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						TTCCATCAGTAAAAAAACAGC	0.383													-	141162875	A	-	141162875	7	5	63	1	0	1	0	1	0	0	0	0	17536	363	13	0	1647	0	ZBTB38	3	141162875	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	879988	141162875	56859555	409	45142											
CHST2	9435	broad.mit.edu	37	chr3	142840396	142840396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggggcgcaacctcaccacGctgggcatcttcggcgcagc	15	15	2	0	rs150194588		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:142840396G>A	uc003evm.2	+	2	1627	c.738G>A	c.(736-738)ACG>ACA	p.T246T		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	246	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3						ACCTCACCACGCTGGGCATCT	0.667													A	142840396	G	A	142840396	2	1	63	1	0	0	0	0	0	0	0	1	3404	1074	38	1		1	CHST2	3	142840396	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1677521	142840396	55182034	410	45143											
ZIC4	84107	broad.mit.edu	37	chr3	147113965	147113965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcctgtttgatgggctggCgcatgtagcggaagaaagcg	16	8	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:147113965C>T	uc003ewd.1	-	3	635	c.362G>A	c.(361-363)CGC>CAC	p.R121H	ZIC4_uc003ewc.1_Missense_Mutation_p.R51H|ZIC4_uc011bno.1_Missense_Mutation_p.R171H	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	121						nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						GATGGGCTGGCGCATGTAGCG	0.657													T	147113965	C	T	147113965	3	4	63	1	0	0	0	0	1	0	0	0	17678	768	27	1	654	1	ZIC4	3	147113965	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4273569	147113965	50908465	411	45144											
ZIC1	7545	broad.mit.edu	37	chr3	147128745	147128745	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtccgcgcgagggcaagccCttcaaagccaaatacaaact	9	13	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:147128745C>A	uc003ewe.2	+	1	1565	c.846C>A	c.(844-846)CCC>CCA	p.P282P		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	282	C2H2-type 2; atypical.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						AGGGCAAGCCCTTCAAAGCCA	0.602													A	147128745	C	A	147128745	2	1	63	1	0	0	0	0	0	0	0	1	17675	668	24	5		5	ZIC1	3	147128745	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	14780	147128745	50893685	412	45145											
CPB1	1360	broad.mit.edu	37	chr3	148545657	148545657	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggccctggcatctgctcAtcatggtggtgagcactttg	13	10	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:148545657A>G	uc003ewl.2	+	1	70	c.47A>G	c.(46-48)CAT>CGT	p.H16R		NM_001871	NP_001862	P15086	CBPB1_HUMAN	pancreatic carboxypeptidase B1 preproprotein	16				H -> A (in Ref. 1; AA sequence).	proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GCATCTGCTCATCATGGTGGT	0.473													G	148545657	A	G	148545657	3	3	63	1	0	0	0	0	1	0	0	0	3796	217	8	3	49	3	CPB1	3	148545657	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	1416912	148545657	49476773	413	45146											
HLTF	6596	broad.mit.edu	37	chr3	148789134	148789134	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttatagtataagtcatttcGctgttcccagaatggtggaa	10	6	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:148789134G>A	uc003ewq.1	-	7	1017	c.799C>T	c.(799-801)CGA>TGA	p.R267*	HLTF_uc003ewr.1_Nonsense_Mutation_p.R267*|HLTF_uc003ews.1_Nonsense_Mutation_p.R267*|HLTF_uc010hve.1_Nonsense_Mutation_p.R267*	NM_139048	NP_620636	Q14527	HLTF_HUMAN	helicase-like transcription factor	267					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AAGTCATTTCGCTGTTCCCAG	0.393													A	148789134	G	A	148789134	4	1	63	1	0	0	0	0	0	1	0	0	7215	1095	38	1	2306	1	HLTF	3	148789134	Nonsense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	243477	148789134	49233296	414	45147											
FAM194A	131831	broad.mit.edu	37	chr3	150421356	150421356	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcgcgctctggctgggcacGaacgtagaggtcaggctagg	17	10	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:150421356G>A	uc003eyg.2	-	1	387	c.330C>T	c.(328-330)TTC>TTT	p.F110F	FAM194A_uc003eyh.2_Intron	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	110										skin(2)|ovary(1)	3						GGCTGGGCACGAACGTAGAGG	0.642													A	150421356	G	A	150421356	2	1	63	1	0	0	0	0	0	0	0	1	5526	1049	37	1		1	FAM194A	3	150421356	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1632222	150421356	47601074	415	45148											
MED12L	116931	broad.mit.edu	37	chr3	151112591	151112591	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagttgatacagatgaAgcttctgcagcagcagcagc	12	10	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:151112591A>G	uc003eyp.2	+	37	5689	c.5651A>G	c.(5650-5652)AAG>AGG	p.K1884R	MED12L_uc011bnz.1_Missense_Mutation_p.K1744R	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1884	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATACAGATGAAGCTTCTGCAG	0.537													G	151112591	A	G	151112591	3	3	63	1	0	0	0	0	1	0	0	0	9429	72	3	3	5797	3	MED12L	3	151112591	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	691235	151112591	46909839	416	45149											
ZBBX	79740	broad.mit.edu	37	chr3	167035316	167035316	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcattttgagaacactgtgcAtcaccagtggtttcatgtgg	10	8	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:167035316A>G	uc003fep.2	-	13	1376	c.1053T>C	c.(1051-1053)GAT>GAC	p.D351D	ZBBX_uc011bpc.1_Silent_p.D351D|ZBBX_uc003feq.2_Silent_p.D322D	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	351						intracellular	zinc ion binding			ovary(2)	2						AACACTGTGCATCACCAGTGG	0.333													G	167035316	A	G	167035316	2	3	63	1	0	0	0	0	0	0	0	1	17513	214	8	3		3	ZBBX	3	167035316	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	15922725	167035316	30987114	417	45150											
TBL1XR1	79718	broad.mit.edu	37	chr3	176769342	176769342	+	Frame_Shift_Del	DEL	T	T	-													catttgctgtgttttctccaTtttttgcagatccttgttgg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:176769342delT	uc003fiw.3	-	5	637	c.377delA	c.(376-378)AATfs	p.N126fs	TBL1XR1_uc003fix.3_Frame_Shift_Del_p.N126fs|TBL1XR1_uc011bpz.1_Translation_Start_Site|TBL1XR1_uc003fiy.2_Frame_Shift_Del_p.N126fs	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	126					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GTTTTCTCCATTTTTTGCAGA	0.418													-	176769342	T	-	176769342	7	5	63	1	0	1	0	1	0	0	0	0	15637	1493	52	0	1215	0	TBL1XR1	3	176769342	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	9734026	176769342	21253088	418	45151											
ACTL6A	86	broad.mit.edu	37	chr3	179288016	179288016	+	Frame_Shift_Del	DEL	A	A	-													atggaggccatttcacctctAaaaaatgggatgggtatgat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:179288015_179288015TA>T	uc003fjw.3	+	2	436	c.263_263TA>T	c.(262-264)ctafs	p.L88fs	ACTL6A_uc003fjx.3_Frame_Shift_Del_p.L46fs|ACTL6A_uc003fjy.3_Frame_Shift_Del_p.L46fs	NM_004301	NP_829888	O96019	ACL6A_HUMAN	Homo sapiens actin-like 6A (ACTL6A), transcript variant 1, mRNA.	88					DNA recombination|DNA repair|chromatin remodeling|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|NuA4 histone acetyltransferase complex|SWI/SNF complex|npBAF complex|plasma membrane	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			ATTTCACCTCTAAAAAATGGG	0.398													-	179288016	A	-	179288016	7	5	63	1	0	1	0	1	0	0	0	0	198	349	13	0	274	0	ACTL6A	3	179288016	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	2518674	179288016	18734414	419	45152											
USP13	8975	broad.mit.edu	37	chr3	179408081	179408081	+	Frame_Shift_Del	DEL	T	T	-													aaaaaggaggaattccaagaTttttttaggtaaatagttat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:179408080_179408080AT>A	uc003fkh.3	+	2	427	c.346_346AT>A	c.(346-348)attfs	p.I116fs		NM_003940	NP_003931	Q92995	UBP13_HUMAN	Homo sapiens ubiquitin specific peptidase 13 (isopeptidase T-3) (USP13), mRNA.	116					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GAATTCCAAGATTTTTTTAGG	0.353													-	179408081	T	-	179408081	7	5	63	1	0	1	0	1	0	0	0	0	17041	1493	52	0	357	0	USP13	3	179408081	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	120065	179408081	18614349	420	45153											
YEATS2	55689	broad.mit.edu	37	chr3	183503960	183503960	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgaaaatatccgatagcacCttgaagactgtgccagccac	8	11	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:183503960C>A	uc003fly.2	+	20	2979	c.2784C>A	c.(2782-2784)ACC>ACA	p.T928T	YEATS2_uc003flz.2_Silent_p.T7T	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	928					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCGATAGCACCTTGAAGACTG	0.502													A	183503960	C	A	183503960	2	1	63	1	0	0	0	0	0	0	0	1	17469	668	24	5		5	YEATS2	3	183503960	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4095879	183503960	14518470	421	45154											
DVL3	1857	broad.mit.edu	37	chr3	183884401	183884401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttgttttcaggcccatcAccctgactgtagccaagtgc	8	15	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:183884401A>G	uc003fms.2	+	10	1128	c.988A>G	c.(988-990)ACC>GCC	p.T330A	DVL3_uc011bqw.1_Missense_Mutation_p.T330A|DVL3_uc003fmt.2_Intron|DVL3_uc003fmu.2_Missense_Mutation_p.T162A	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	330					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CAGGCCCATCACCCTGACTGT	0.557													G	183884401	A	G	183884401	3	3	63	1	0	0	0	0	1	0	0	0	4837	159	6	3	1026	3	DVL3	3	183884401	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	380441	183884401	14138029	422	45155											
ABCF3	55324	broad.mit.edu	37	chr3	183906039	183906039	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaagatgctggccacccggaGtctgcgggttccagcccaca	13	14	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:183906039G>C	uc003fmz.2	+	7	813	c.680G>C	c.(679-681)AGT>ACT	p.S227T	ABCF3_uc003fna.2_Missense_Mutation_p.S221T|ABCF3_uc003fnb.2_5'Flank	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20),	227	ABC transporter 1.						ATP binding|ATPase activity			ovary(3)|lung(1)	4	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCACCCGGAGTCTGCGGGTT	0.612													C	183906039	G	C	183906039	3	2	63	1	0	0	0	0	1	0	0	0	67	1029	36	5	706	5	ABCF3	3	183906039	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	21638	183906039	14116391	423	45156											
CAMK2N2	94032	broad.mit.edu	37	chr3	183978963	183978963	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcttggcctggttgcccgcGaagaaggagttggtgtcctg	16	10	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:183978963G>A	uc003fnj.1	-	1	289	c.111C>T	c.(109-111)TTC>TTT	p.F37F	ECE2_uc003fni.3_Intron	NM_033259	NP_150284	Q96S95	CK2N2_HUMAN	CaM-KII inhibitory protein	37						cytosol|nucleus	protein kinase inhibitor activity				0	all_cancers(143;1.09e-10)|Ovarian(172;0.0339)		Epithelial(37;2.51e-33)|OV - Ovarian serous cystadenocarcinoma(80;5.69e-22)			GGTTGCCCGCGAAGAAGGAGT	0.692													A	183978963	G	A	183978963	2	1	63	1	0	0	0	0	0	0	0	1	2604	1049	37	1		1	CAMK2N2	3	183978963	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	72924	183978963	14043467	424	45157											
TMEM41A	90407	broad.mit.edu	37	chr3	185212518	185212518	+	Frame_Shift_Del	DEL	A	A	-													aaagtctcaaaaacaataagAaaaaaaacaagctgtttctg					rs150885877	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:185212517_185212517GA>G	uc003fpj.2	-	3	564	c.468_468TC>C	c.(466-468)ttcfs	p.F156fs	TMEM41A_uc003fpl.2_3'UTR	NM_080652	NP_542383	Q96HV5	TM41A_HUMAN	Homo sapiens transmembrane protein 41A (TMEM41A), mRNA.	156						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACA	0.443													-	185212518	A	-	185212518	7	5	63	1	0	1	0	1	0	0	0	0	16161	246	9	0	335	0	TMEM41A	3	185212518	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	1233555	185212518	12809912	425	45158											
FETUB	26998	broad.mit.edu	37	chr3	186360342	186360342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttataactgtactcttcGcccaggtaagaaatcactac	6	11	2	1	rs141401279		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:186360342G>A	uc010hyq.2	+	4	680	c.419G>A	c.(418-420)CGC>CAC	p.R140H	FETUB_uc011brz.1_Intron|FETUB_uc003fqn.2_Missense_Mutation_p.R140H|FETUB_uc003fqo.2_Missense_Mutation_p.R35H|FETUB_uc010hyr.2_Missense_Mutation_p.R103H|FETUB_uc010hys.2_Intron|FETUB_uc003fqp.3_Intron	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	fetuin B precursor	140						extracellular space	cysteine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		TGTACTCTTCGCCCAGGTAAG	0.353													A	186360342	G	A	186360342	3	1	63	1	0	0	0	0	1	0	0	0	5821	1087	38	1	429	1	FETUB	3	186360342	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1147824	186360342	11662088	426	45159											
BCL6	604	broad.mit.edu	37	chr3	187446201	187446201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccatctcctcagggaacGtggggccagcggtgtggagg	16	12	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:187446201G>A	uc003frp.3	-	6	1944	c.1487C>T	c.(1486-1488)ACG>ATG	p.T496M	BCL6_uc011bsf.1_Missense_Mutation_p.T496M|BCL6_uc010hza.2_Missense_Mutation_p.T394M|BCL6_uc003frq.1_Missense_Mutation_p.T496M	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	496					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTCAGGGAACGTGGGGCCAGC	0.602			T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL								A	187446201	G	A	187446201	3	1	63	1	0	0	0	0	1	0	0	0	1376	1145	40	1	653	1	BCL6	3	187446201	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1085859	187446201	10576229	427	45160											
BCL6	604	broad.mit.edu	37	chr3	187446270	187446270	+	Frame_Shift_Del	DEL	G	G	-													agccgcaggacgtgcacttcGgggggtgcatgtagagtggt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:187446270delG	uc003frp.3	-	6	1875	c.1418delC	c.(1417-1419)CCGfs	p.P473fs	BCL6_uc011bsf.1_Frame_Shift_Del_p.P473fs|BCL6_uc010hza.2_Frame_Shift_Del_p.P371fs|BCL6_uc003frq.1_Frame_Shift_Del_p.P473fs	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	473					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CGTGCACTTCGGGGGGTGCAT	0.627			T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL								-	187446270	G	-	187446270	7	5	63	1	0	1	0	1	0	0	0	0	1376	1116	39	0	722	0	BCL6	3	187446270	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	69	187446270	10576160	428	45161											
LPP	4026	broad.mit.edu	37	chr3	188123973	188123973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcggccatgtgcctgcacGgatggagaccacccattcct	10	16	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:188123973G>A	uc003frs.1	+	3	311	c.65G>A	c.(64-66)CGG>CAG	p.R22Q	LPP_uc011bsg.1_Missense_Mutation_p.R22Q|LPP_uc011bsi.1_Missense_Mutation_p.R22Q|LPP_uc003frt.2_Missense_Mutation_p.R22Q	NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	22					cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GTGCCTGCACGGATGGAGACC	0.502			T	HMGA2|MLL|C12orf9	lipoma|leukemia								A	188123973	G	A	188123973	3	1	63	1	0	0	0	0	1	0	0	0	8923	1116	39	1	67	1	LPP	3	188123973	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	677703	188123973	9898457	429	45162											
GP5	2814	broad.mit.edu	37	chr3	194118562	194118562	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgattctggttcagagcgagCtcctgcaggttaaccagttt	11	9	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:194118562C>A	uc003ftv.1	-	2	481	c.450G>T	c.(448-450)GAG>GAT	p.E150D		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	150	LRR 4.|Extracellular (Potential).				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				skin(2)|breast(1)	3	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TCAGAGCGAGCTCCTGCAGGT	0.483													A	194118562	C	A	194118562	3	1	63	1	0	0	0	0	1	0	0	0	6583	796	28	5	1236	5	GP5	3	194118562	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	5994589	194118562	3903868	430	45163											
ATP13A3	79572	broad.mit.edu	37	chr3	194147850	194147851	+	Frame_Shift_Ins	INS	-	-	A													caaggttgctgtttgacccaINSaaaaaaacccaaagattgaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:194147849_194147850C>CA	uc003fty.4	-	27	3481_3482	c.3079_3080G>TG	c.(3079-3081)tggfs	p.W1027fs	ATP13A3_uc003ftx.4_5'Flank	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	1027					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CTGTTTGACCCAAAAAAAACCC	0.381													A	194147851	-	A	194147850	7	5	63	1	0	1	1	0	0	0	0	0	1125	130	5	0	621	0	ATP13A3	3	194147850	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	29288	194147850	3874580	431	45164											
ATP13A3	79572	broad.mit.edu	37	chr3	194150868	194150868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggagatgccactgaagcttCgagctccgataaggaaatgc	13	9	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:194150868C>T	uc003fty.3	-	25	3112	c.2710G>A	c.(2710-2712)GAA>AAA	p.E904K	ATP13A3_uc003ftz.1_Missense_Mutation_p.E610K	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	904					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ACTGAAGCTTCGAGCTCCGAT	0.383													T	194150868	C	T	194150868	3	4	63	1	0	0	0	0	1	0	0	0	1125	893	31	1	1002	1	ATP13A3	3	194150868	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3018	194150868	3871562	432	45165											
ACAP2	23527	broad.mit.edu	37	chr3	195027343	195027343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctgcctggagcatgcaaCttctaaaaggaaataacata	7	8	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:195027343C>T	uc003fun.3	-	13	1254	c.1013G>A	c.(1012-1014)AGT>AAT	p.S338N		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	centaurin, beta 2	338	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)	2						GAGCATGCAACTTCTAAAAGG	0.368													T	195027343	C	T	195027343	3	4	63	1	0	0	0	0	1	0	0	0	119	565	20	4	1367	4	ACAP2	3	195027343	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	876475	195027343	2995087	433	45166											
TNK2	10188	broad.mit.edu	37	chr3	195594633	195594633	+	Frame_Shift_Del	DEL	G	G	-													gccaggggcctggatcacctGgggggtggcgtacttggggt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:195594632_195594632TG>T	uc003fvu.1	-	11	3035	c.2492_2492CA>A	c.(2491-2493)cagfs	p.Q831fs	TNK2_uc003fvq.1_Frame_Shift_Del_p.Q238fs|TNK2_uc003fvr.1_Frame_Shift_Del_p.Q356fs|TNK2_uc003fvs.1_Frame_Shift_Del_p.Q863fs|TNK2_uc003fvt.1_Frame_Shift_Del_p.Q909fs|TNK2_uc010hzw.1_Non-coding_Transcript	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	831	EBD domain (By similarity).|Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CTGGATCACCTGGGGGGTGGC	0.667													-	195594633	G	-	195594633	7	5	63	1	0	1	0	1	0	0	0	0	16315	1357	47	0	641	0	TNK2	3	195594633	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	567290	195594633	2427797	434	45167											
WDR53	348793	broad.mit.edu	37	chr3	196281462	196281462	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccttaaatcccagttcctGttcacacttaactcccatca	3	16	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:196281462G>A	uc003fwt.2	-	4	1168	c.697C>T	c.(697-699)CAG>TAG	p.Q233*		NM_182627	NP_872433	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	233	WD 4.									breast(1)|skin(1)	2	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CCCAGTTCCTGTTCACACTTA	0.468													A	196281462	G	A	196281462	4	1	63	1	0	0	0	0	0	1	0	0	17302	1386	48	4	383	4	WDR53	3	196281462	Nonsense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	686829	196281462	1740968	435	45168											
ZNF718	255403	broad.mit.edu	37	chr4	154927	154927	+	Frame_Shift_Del	DEL	T	T	-													atctaatatatgtgtcaaagTttttcataaattttcaaatt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:154927delT	uc003fzt.3	+	8	585	c.452delT	c.(451-453)GTTfs	p.V151fs	ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_5'UTR	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN	zinc finger protein 718	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TGTGTCAAAGTTTTTCATAAA	0.279													-	154927	T	-	154927	7	5	63	1	0	1	0	1	0	0	0	0	18117	1725	60	0	466	0	ZNF718	4	154927	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08		154927	190999349	436	45169											
MFSD7	84179	broad.mit.edu	37	chr4	677076	677076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgccaactccatggccacGgggcccaccgagaagccaaa	10	17	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:677076G>A	uc003gay.2	-	8	1134	c.1077C>T	c.(1075-1077)CCC>CCT	p.P359P	MFSD7_uc003gaw.2_Silent_p.P101P|MFSD7_uc003gax.2_Silent_p.P358P|MFSD7_uc003gaz.2_Silent_p.P240P|MFSD7_uc003gba.2_Silent_p.P262P|MFSD7_uc003gbb.1_Silent_p.P294P	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing	359	Helical; (Potential).				transmembrane transport	integral to membrane					0						CCATGGCCACGGGGCCCACCG	0.667													A	677076	G	A	677076	2	1	63	1	0	0	0	0	0	0	0	1	9537	1103	39	1		1	MFSD7	4	677076	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	522149	677076	190477200	437	45170											
CPLX1	10815	broad.mit.edu	37	chr4	780365	780365	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggatgctctcgtcctcctccTccacctcgtccccgcagccc	7	22	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:780365T>A	uc003gbi.2	-	4	520	c.329A>T	c.(328-330)GAG>GTG	p.E110V	CPLX1_uc003gbj.2_Missense_Mutation_p.E89V	NM_006651	NP_006642	O14810	CPLX1_HUMAN	complexin 1	110					glutamate secretion	cytosol					0				Colorectal(103;0.187)		GTCCTCCTCCTCCACCTCGTC	0.711													A	780365	T	A	780365	3	1	63	1	0	0	0	0	1	0	0	0	3804	1551	54	5	79	5	CPLX1	4	780365	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	103289	780365	190373911	438	45171											
LETM1	3954	broad.mit.edu	37	chr4	1834632	1834632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaataatttggaaaaacGcatgatttcctcattgctgg	7	8	2	1	rs144099418		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:1834632G>A	uc003gdv.2	-	6	1216	c.919C>T	c.(919-921)CGT>TGT	p.R307C		NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	307	Mitochondrial matrix (Potential).|LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TTGGAAAAACGCATGATTTCC	0.602													A	1834632	G	A	1834632	3	1	63	1	0	0	0	0	1	0	0	0	8734	1087	38	1	1336	1	LETM1	4	1834632	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1054267	1834632	189319644	439	45172											
ZFYVE28	57732	broad.mit.edu	37	chr4	2306441	2306441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccgccatccatcccctcGgccacgggctccgaggcggc	14	19	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:2306441G>A	uc003gex.1	-	8	1945	c.1626C>T	c.(1624-1626)GCC>GCT	p.A542A	ZFYVE28_uc011bvk.1_Silent_p.A472A|ZFYVE28_uc011bvl.1_Silent_p.A512A|ZFYVE28_uc003gew.1_Silent_p.A428A	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	542					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			skin(2)|ovary(1)	3						CCATCCCCTCGGCCACGGGCT	0.667													A	2306441	G	A	2306441	2	1	63	1	0	0	0	0	0	0	0	1	17667	1103	39	1		1	ZFYVE28	4	2306441	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	471809	2306441	188847835	440	45173											
SH3BP2	6452	broad.mit.edu	37	chr4	2831861	2831861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggccagagaagccgcagCtcccgcacctccagtgagtt	11	16	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:2831861C>T	uc003gfi.3	+	8	1348	c.1228C>T	c.(1228-1230)CTC>TTC	p.L410F	SH3BP2_uc011bvp.1_Missense_Mutation_p.L438F|SH3BP2_uc003gfj.3_Missense_Mutation_p.L467F|SH3BP2_uc003gfk.3_Missense_Mutation_p.L410F|SH3BP2_uc003gfl.3_Missense_Mutation_p.L343F|SH3BP2_uc003gfm.3_Missense_Mutation_p.L385F	NM_001122681	NP_001116153	P78314	3BP2_HUMAN	SH3-domain binding protein 2 isoform a	410					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GAAGCCGCAGCTCCCGCACCT	0.706									Cherubism				T	2831861	C	T	2831861	3	4	63	1	0	0	0	0	1	0	0	0	14245	797	28	2	1513	2	SH3BP2	4	2831861	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	525420	2831861	188322415	441	45174											
C4orf6	10141	broad.mit.edu	37	chr4	5528018	5528018	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgacccaaaccccagtgTgactgtctccggtgctcact	8	15	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:5528018T>C	uc003gii.2	+	2	417	c.242T>C	c.(241-243)GTG>GCG	p.V81A		NM_005750	NP_005741	Q99440	CD006_HUMAN	chromosome 4 open reading frame 6	81					nervous system development						0						AACCCCAGTGTGACTGTCTCC	0.468													C	5528018	T	C	5528018	3	2	63	1	0	0	0	0	1	0	0	0	2278	1696	59	3	248	3	C4orf6	4	5528018	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	2696157	5528018	185626258	442	45175											
PPP2R2C	5522	broad.mit.edu	37	chr4	6325117	6325117	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttctcagccgggtgccagGccgtgtgcaggatcttcttg	14	11	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:6325117G>T	uc003gjc.2	-	9	1626	c.1256C>A	c.(1255-1257)GCC>GAC	p.A419D	PPP2R2C_uc003gjb.2_Missense_Mutation_p.A402D|PPP2R2C_uc011bwd.1_Missense_Mutation_p.A412D|PPP2R2C_uc011bwe.1_Missense_Mutation_p.A412D|PPP2R2C_uc003gja.2_Missense_Mutation_p.A419D	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	419	WD 7.				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						CGGGTGCCAGGCCGTGTGCAG	0.577													T	6325117	G	T	6325117	3	4	63	1	0	0	0	0	1	0	0	0	12386	1203	42	5	91	5	PPP2R2C	4	6325117	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	797099	6325117	184829159	443	45176											
MAN2B2	23324	broad.mit.edu	37	chr4	6611012	6611012	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttgtgactgagatccggCagtacttctacaggtgcttc	11	10	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:6611012C>T	uc003gjf.1	+	12	2029	c.1993C>T	c.(1993-1995)CAG>TAG	p.Q665*	MAN2B2_uc003gje.1_Nonsense_Mutation_p.Q665*|MAN2B2_uc011bwf.1_Nonsense_Mutation_p.Q614*	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	665					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						TGAGATCCGGCAGTACTTCTA	0.602													T	6611012	C	T	6611012	4	4	63	1	0	0	0	0	0	1	0	0	9217	711	25	2	2039	2	MAN2B2	4	6611012	Nonsense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	285895	6611012	184543264	444	45177											
ACOX3	8310	broad.mit.edu	37	chr4	8401309	8401309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggctgacataggtgccctCgggggtgacgtctcccatcc	15	13	1	2	rs142830697		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:8401309C>T	uc010idk.2	-	8	992	c.847G>A	c.(847-849)GAG>AAG	p.E283K	ACOX3_uc003glc.3_Missense_Mutation_p.E283K|ACOX3_uc003gld.3_Missense_Mutation_p.E283K|ACOX3_uc003gle.1_Missense_Mutation_p.E188K	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	283					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			central_nervous_system(1)	1						TAGGTGCCCTCGGGGGTGACG	0.607													T	8401309	C	T	8401309	3	4	63	1	0	0	0	0	1	0	0	0	160	893	31	1	1299	1	ACOX3	4	8401309	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1790297	8401309	182752967	445	45178											
ACOX3	8310	broad.mit.edu	37	chr4	8412063	8412064	+	Frame_Shift_Ins	INS	-	-	G													cttggcagcttcgaaatcagINSgggaatgtatgatgaattcc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:8412062_8412063A>AG	uc010idk.3	-	5	708_709	c.563_564T>CT	c.(562-564)cctfs	p.P188fs	ACOX3_uc003glc.4_Frame_Shift_Ins_p.P188fs|ACOX3_uc003gld.4_Frame_Shift_Ins_p.P188fs	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	188					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CTTCGAAATCAGGGGAATGTAT	0.455													G	8412064	-	G	8412063	7	5	63	1	0	1	1	0	0	0	0	0	160	1000	35	0	1591	0	ACOX3	4	8412063	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	10754	8412063	182742213	446	45179											
ZNF518B	85460	broad.mit.edu	37	chr4	10446553	10446554	+	Frame_Shift_Ins	INS	-	-	T													tctatgtggatacaaattatINStttttttctgaaaatcctca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:10446552_10446553A>AT	uc003gmn.3	-	2	1887_1888	c.1400_1401T>AT	c.(1399-1401)aatfs	p.N467fs	ZNF518B_uc021xme.1_Frame_Shift_Ins_p.N467fs	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GATACAAATTATTTTTTTTCTG	0.337													T	10446554	-	T	10446553	7	5	63	1	0	1	1	0	0	0	0	0	17960	1493	52	0	1828	0	ZNF518B	4	10446553	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	2034490	10446553	180707723	447	45180											
NCAPG	64151	broad.mit.edu	37	chr4	17838908	17838908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctgtgactgaagaggatGttcaacttcgacattgccta	9	9	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:17838908G>A	uc003gpp.2	+	15	2412	c.2236G>A	c.(2236-2238)GTT>ATT	p.V746I	NCAPG_uc011bxj.1_Missense_Mutation_p.V255I	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	chromosome condensation protein G	746					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			large_intestine(1)	1				STAD - Stomach adenocarcinoma(129;0.18)		TGAAGAGGATGTTCAACTTCG	0.423													A	17838908	G	A	17838908	3	1	63	1	0	0	0	0	1	0	0	0	10207	1377	48	4	2294	4	NCAPG	4	17838908	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	7392355	17838908	173315368	448	45181											
SLIT2	9353	broad.mit.edu	37	chr4	20597434	20597434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcagtgaacggctatacGtgcatatgccccgaaggtta	12	9	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:20597434G>A	uc003gpr.1	+	31	3501	c.3297G>A	c.(3295-3297)ACG>ACA	p.T1099T	SLIT2_uc003gps.1_Silent_p.T1091T	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1099	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						ACGGCTATACGTGCATATGCC	0.333													A	20597434	G	A	20597434	2	1	63	1	0	0	0	0	0	0	0	1	14740	1132	40	1		1	SLIT2	4	20597434	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2758526	20597434	170556842	449	45182											
PPARGC1A	10891	broad.mit.edu	37	chr4	23830061	23830061	+	Frame_Shift_Del	DEL	T	T	-													gcgactgtgtgtgggacttcTttttggaggtgcatttgtct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:23830061delT	uc003gqs.2	-	5	839	c.719delA	c.(718-720)AAGfs	p.K240fs	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	240					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				GTGGGACTTCTTTTTGGAGGT	0.498													-	23830061	T	-	23830061	7	5	63	1	0	1	0	1	0	0	0	0	12300	1609	56	0	1713	0	PPARGC1A	4	23830061	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	3232627	23830061	167324215	450	45183											
ZCCHC4	29063	broad.mit.edu	37	chr4	25334886	25334887	+	Frame_Shift_Ins	INS	-	-	T													tgttgttaccagatgactggINSgggcaacatagtgagcatca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:25334885_25334886G>GT	uc003grl.4	+	3	446_447	c.410_411G>GT	c.(409-411)tggfs	p.W137fs	ZCCHC4_uc003grm.1_Non-coding_Transcript	NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 4 (ZCCHC4), mRNA.	137							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				CCAGATGACTGGGGGCAACATA	0.411													T	25334887	-	T	25334886	7	5	63	1	0	1	1	0	0	0	0	0	17587	1241	43	0	425	0	ZCCHC4	4	25334886	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1504825	25334886	165819390	451	45184											
RBPJ	3516	broad.mit.edu	37	chr4	26431567	26431567	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagagatgataaatgatggCgcttcctggacaatcattag	10	6	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:26431567C>T	uc003grx.1	+	10	1211	c.975C>T	c.(973-975)GGC>GGT	p.G325G	RBPJ_uc003gry.1_Silent_p.G310G|RBPJ_uc003grz.1_Silent_p.G325G|RBPJ_uc011bxt.1_Silent_p.G325G|RBPJ_uc003gsa.1_Silent_p.G311G|RBPJ_uc003gsb.1_Silent_p.G312G|RBPJ_uc003gsc.1_Silent_p.G311G	NM_005349	NP_005340	Q06330	SUH_HUMAN	recombining binding protein suppressor of	325					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)	3		Breast(46;0.0503)				TAAATGATGGCGCTTCCTGGA	0.403													T	26431567	C	T	26431567	2	4	63	1	0	0	0	0	0	0	0	1	13161	755	27	1		1	RBPJ	4	26431567	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1096681	26431567	164722709	452	45185											
PCDH7	5099	broad.mit.edu	37	chr4	30723161	30723161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccggtaccggctggcCgaggagggccccgccgacgt	15	17	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:30723161C>T	uc003gsk.1	+	1	1125	c.117C>T	c.(115-117)GCC>GCT	p.A39A	PCDH7_uc011bxw.1_Silent_p.A39A|PCDH7_uc011bxx.1_Silent_p.A39A	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	39	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						ACCGGCTGGCCGAGGAGGGCC	0.716													T	30723161	C	T	30723161	2	4	63	1	0	0	0	0	0	0	0	1	11516	639	23	1		1	PCDH7	4	30723161	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4291594	30723161	160431115	453	45186											
ARAP2	116984	broad.mit.edu	37	chr4	36081868	36081868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatactggtcatccactcCgtctgagttcgtgaactatc	8	11	2	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:36081868C>T	uc003gsq.1	-	31	4916	c.4578G>A	c.(4576-4578)ACG>ACA	p.T1526T		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1526	PH 5.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TCATCCACTCCGTCTGAGTTC	0.383													T	36081868	C	T	36081868	2	4	63	1	0	0	0	0	0	0	0	1	839	639	23	1		1	ARAP2	4	36081868	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	5358707	36081868	155072408	454	45187											
ARAP2	116984	broad.mit.edu	37	chr4	36230898	36230898	+	Frame_Shift_Del	DEL	T	T	-													atatattggaatatcttgcaTttttgacaagattatctgta							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:36230897_36230897AT>A	uc003gsq.2	-	1	550	c.212_212AT>T	c.(211-213)atgfs	p.M71fs	ARAP2_uc003gsr.1_Frame_Shift_Del_p.M71fs	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	71					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AATATCTTGCATTTTTGACAA	0.358													-	36230898	T	-	36230898	7	5	63	1	0	1	0	1	0	0	0	0	839	1493	52	0	5031	0	ARAP2	4	36230898	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	149030	36230898	154923378	455	45188											
KLF3	51274	broad.mit.edu	37	chr4	38690460	38690460	+	Frame_Shift_Del	DEL	A	A	-													ccttcttccagcccaccgatAaaaaaatactcacccccttc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:38690459_38690459TA>T	uc003gth.4	+	2	643	c.311_311TA>T	c.(310-312)atafs	p.I104fs	KLF3_uc003gtg.2_Frame_Shift_Del_p.I104fs	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	104	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AGCCCACCGATAAAAAAATAC	0.617													-	38690460	A	-	38690460	7	5	63	1	0	1	0	1	0	0	0	0	8347	352	13	0	318	0	KLF3	4	38690460	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	2459562	38690460	152463816	456	45189											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984375	41984375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagaggcctggtcctgtgCgtggtccctcaacacccggg	13	16	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:41984375C>T	uc003gwk.2	+	1	663	c.566C>T	c.(565-567)GCG>GTG	p.A189V		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	WD repeat domain 21B	189										skin(1)	1						TGGTCCTGTGCGTGGTCCCTC	0.572													T	41984375	C	T	41984375	3	4	63	1	0	0	0	0	1	0	0	0	4271	768	27	1	568	1	DCAF4L1	4	41984375	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3293915	41984375	149169901	457	45190											
OCIAD2	132299	broad.mit.edu	37	chr4	48894833	48894833	+	Frame_Shift_Del	DEL	A	A	-													gccccacggagctgatcttcAaaaaaatggaatttactctg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:48894832_48894832CA>C	uc003gyt.3	-	5	543	c.340_340TG>G	c.(340-342)gaafs	p.E114fs	OCIAD2_uc003gyu.3_Intron	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	Homo sapiens OCIA domain containing 2 (OCIAD2), transcript variant 1, mRNA.	114	OCIA.					endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						AGCTGATCTTCAAAAAAATGG	0.393													-	48894833	A	-	48894833	7	5	63	1	0	1	0	1	0	0	0	0	10818	127	5	0	133	0	OCIAD2	4	48894833	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	6910458	48894833	142259443	458	45191											
LRRC66	339977	broad.mit.edu	37	chr4	52861964	52861965	+	Frame_Shift_Ins	INS	-	-	T													cagggcttttgctctggcacINStttttttgccacagtctgtc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:52861964_52861965insT	uc003gzi.2	-	4	1236_1237	c.1223_1224insA	c.(1222-1224)AAGfs	p.K408fs		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	408						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						TGCTCTGGCACTTTTTTTGCCA	0.554													T	52861965	-	T	52861964	7	5	63	1	0	1	1	0	0	0	0	0	9018	564	20	0	1422	0	LRRC66	4	52861964	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	3967131	52861964	138292312	459	45192	166	2									
LRRC66	339977	broad.mit.edu	37	chr4	52861965	52861966	+	Frame_Shift_Ins	INS	-	-	T													agggcttttgctctggcactINSttttttgccacagtctgtca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:52861964_52861965C>CT	uc003gzi.3	-	3	1230_1231	c.1223_1224G>AG	c.(1222-1224)aagfs	p.K408fs		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	408						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGCTCTGGCACTTTTTTTGCCA	0.554													T	52861966	-	T	52861965	7	5	63	1	0	1	1	0	0	0	0	0	9018	1609	56	0	1423	0	LRRC66	4	52861965	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1	52861965	138292311	460	45193	166	2									
GSX2	170825	broad.mit.edu	37	chr4	54966575	54966575	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctcacggcctgcgccctcgCtgcctgaaccgcaccccggg	11	21	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:54966575C>G	uc010igp.1	+	1	328	c.64C>G	c.(64-66)CTG>GTG	p.L22V	PDGFRA_uc003haa.2_Intron	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	GS homeobox 2	22						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			TGCGCCCTCGCTGCCTGAACC	0.667													G	54966575	C	G	54966575	3	3	63	1	0	0	0	0	1	0	0	0	6850	796	28	5	66	5	GSX2	4	54966575	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2104610	54966575	136187701	461	45194											
PAICS	10606	broad.mit.edu	37	chr4	57318172	57318172	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacttcgagtaacatctgcGcataaaggaccagatgaaac	9	9	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:57318172G>A	uc003hbs.1	+	8	1137	c.906G>A	c.(904-906)GCG>GCA	p.A302A	PAICS_uc011cac.1_Silent_p.A302A|PAICS_uc003hbt.1_Silent_p.A309A|PAICS_uc003hbu.1_Silent_p.A302A|PAICS_uc010ihd.1_Silent_p.A303A	NM_006452	NP_006443	P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase,	302	AIR carboxylase.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	TAACATCTGCGCATAAAGGAC	0.383													A	57318172	G	A	57318172	2	1	63	1	0	0	0	0	0	0	0	1	11395	1074	38	1		1	PAICS	4	57318172	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2351597	57318172	133836104	462	45195											
LPHN3	23284	broad.mit.edu	37	chr4	62845386	62845386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcacattttgctttttcCgggggctccagagtgaccgt	10	11	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:62845386C>T	uc010ihh.2	+	15	2880	c.2707C>T	c.(2707-2709)CGG>TGG	p.R903W	LPHN3_uc003hcq.3_Missense_Mutation_p.R903W|LPHN3_uc003hct.2_Missense_Mutation_p.R296W	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	890	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						TTGCTTTTTCCGGGGGCTCCA	0.493													T	62845386	C	T	62845386	3	4	63	1	0	0	0	0	1	0	0	0	8917	643	23	1	2765	1	LPHN3	4	62845386	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	5527214	62845386	128308890	463	45196											
SCARB2	950	broad.mit.edu	37	chr4	77095433	77095433	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaggcagtccctgtacActctcatagtcactgaaagt	9	11	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:77095433A>G	uc003hju.1	-	7	1197	c.858T>C	c.(856-858)AGT>AGC	p.S286S	SCARB2_uc011cbu.1_Silent_p.S143S	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	286	Lumenal (Potential).				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity				0			Lung(101;0.196)			GTCCCTGTACACTCTCATAGT	0.443													G	77095433	A	G	77095433	2	3	63	1	0	0	0	0	0	0	0	1	13882	156	6	3		3	SCARB2	4	77095433	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	14250047	77095433	114058843	464	45197											
THAP9	79725	broad.mit.edu	37	chr4	83838125	83838125	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaaatgccaacccagtccaGgtttcaacagcaacattttt	5	13	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:83838125G>T	uc003hnt.2	+	5	879	c.760G>T	c.(760-762)GGT>TGT	p.G254C	THAP9_uc003hns.1_Missense_Mutation_p.G110C|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Translation_Start_Site	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	254							DNA binding|metal ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5		Hepatocellular(203;0.114)				ACCCAGTCCAGGTTTCAACAG	0.348													T	83838125	G	T	83838125	3	4	63	1	0	0	0	0	1	0	0	0	15848	1000	35	5	778	5	THAP9	4	83838125	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	6742692	83838125	107316151	465	45198											
LIN54	132660	broad.mit.edu	37	chr4	83905920	83905920	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataacagcctcaatactatcAtcatccactaaagttatacc	2	12	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:83905920A>G	uc003hnx.3	-	2	456	c.78T>C	c.(76-78)GAT>GAC	p.D26D	LIN54_uc003hnz.3_Intron|LIN54_uc003hny.3_Intron|LIN54_uc010ijt.2_Silent_p.D26D|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Intron	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	lin-54 homolog isoform a	26					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Hepatocellular(203;0.114)				CAATACTATCATCATCCACTA	0.433													G	83905920	A	G	83905920	2	3	63	1	0	0	0	0	0	0	0	1	8809	214	8	3		3	LIN54	4	83905920	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	67795	83905920	107248356	466	45199											
NKX6-1	4825	broad.mit.edu	37	chr4	85414577	85414577	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaggcttattgtagtcgtcGtcctcttcctcgttctccga	9	12	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:85414577G>T	uc003hpa.1	-	3	975	c.969C>A	c.(967-969)GAC>GAA	p.D323E		NM_006168	NP_006159	P78426	NKX61_HUMAN	NK6 transcription factor related, locus 1	323	Involved in DNA-binding (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus					0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		TGTAGTCGTCGTCCTCTTCCT	0.612													T	85414577	G	T	85414577	3	4	63	1	0	0	0	0	1	0	0	0	10457	1136	40	5	138	5	NKX6-1	4	85414577	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1508657	85414577	105739699	467	45200											
WDFY3	23001	broad.mit.edu	37	chr4	85617218	85617218	+	Frame_Shift_Del	DEL	A	A	-													gatatccacttgaccctcatAaaaaagatgatggaagacat					rs35329336		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:85617217_85617217TA>T	uc003hpd.3	-	57	9215	c.8807_8807TA>A	c.(8806-8808)tatfs	p.Y2936fs	WDFY3_uc003hpe.1_Frame_Shift_Del_p.Y547fs	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2936	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGACCCTCATAAAAAAGATG	0.423													-	85617218	A	-	85617218	7	5	63	1	0	1	0	1	0	0	0	0	17267	362	13	0	1818	0	WDFY3	4	85617218	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	202641	85617218	105537058	468	45201											
WDFY3	23001	broad.mit.edu	37	chr4	85676453	85676453	+	Frame_Shift_Del	DEL	A	A	-													tgcggagcattcccaataatAaaaaaacagcttctgtgcat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:85676452_85676452TA>T	uc003hpd.3	-	33	5934	c.5526_5526TA>A	c.(5524-5526)ttafs	p.L1842fs		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1842						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTCCCAATAATAAAAAAACAG	0.423													-	85676453	A	-	85676453	7	5	63	1	0	1	0	1	0	0	0	0	17267	372	13	0	5195	0	WDFY3	4	85676453	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	59235	85676453	105477823	469	45202											
FAM13A	10144	broad.mit.edu	37	chr4	89653284	89653284	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcatcgtgcactgaaatcGgttttcagagtgaccatgaa	10	8	1	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:89653284G>A	uc003hse.1	-	22	2920	c.2712C>T	c.(2710-2712)ACC>ACT	p.T904T	FAM13A_uc011cdp.1_Silent_p.T6T|FAM13A_uc003hsa.1_Silent_p.T347T|FAM13A_uc003hsb.1_Silent_p.T578T|FAM13A_uc003hsd.1_Silent_p.T550T|FAM13A_uc003hsc.1_Silent_p.T564T|FAM13A_uc011cdq.1_Silent_p.T550T|FAM13A_uc003hsf.1_Silent_p.T490T|FAM13A_uc003hsg.1_Silent_p.T347T	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	904					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						CACTGAAATCGGTTTTCAGAG	0.443													A	89653284	G	A	89653284	2	1	63	1	0	0	0	0	0	0	0	1	5452	1103	39	1		1	FAM13A	4	89653284	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3976831	89653284	101500992	470	45203											
ATOH1	474	broad.mit.edu	37	chr4	94750382	94750382	+	Frame_Shift_Del	DEL	G	G	-													ccgggacgaggtggacggccGgggggagctggtaaggagga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:94750381_94750381CG>C	uc003hta.1	+	0	304	c.304_304CG>C	c.(304-306)cggfs	p.R102fs		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	Homo sapiens atonal homolog 1 (Drosophila) (ATOH1), mRNA.	102					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GGTGGACGGCCGGGGGGAGCT	0.687													-	94750382	G	-	94750382	7	5	63	1	0	1	0	1	0	0	0	0	1112	1116	39	0	307	0	ATOH1	4	94750382	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	5097098	94750382	96403894	471	45204											
BMPR1B	658	broad.mit.edu	37	chr4	96025646	96025646	+	Frame_Shift_Del	DEL	C	C	-													tggtgagagtacagcccccaCcccccgtccaaaggtcttgc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:96025646delC	uc003htm.3	+	4	345	c.71delC	c.(70-72)ACCfs	p.T24fs	BMPR1B_uc010ilb.2_Frame_Shift_Del_p.T24fs|BMPR1B_uc003htn.3_Frame_Shift_Del_p.T24fs	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	24	Extracellular (Potential).				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		ACAGCCCCCACCCCCCGTCCA	0.433													-	96025646	C	-	96025646	7	5	63	1	0	1	0	1	0	0	0	0	1470	507	18	0	73	0	BMPR1B	4	96025646	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	1275264	96025646	95128630	472	45205											
UNC5C	8633	broad.mit.edu	37	chr4	96140171	96140171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagttgaagctgccaaatgCggtacaggatggatcagtct	13	8	2	1	rs148691835		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:96140171C>T	uc003htp.1	-	9	1748	c.1594G>A	c.(1594-1596)GCA>ACA	p.A532T	UNC5C_uc010ilc.1_Missense_Mutation_p.A551T|UNC5C_uc003htq.2_Missense_Mutation_p.A551T	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	532	Cytoplasmic (Potential).|ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CTGCCAAATGCGGTACAGGAT	0.478													T	96140171	C	T	96140171	3	4	63	1	0	0	0	0	1	0	0	0	16990	768	27	1	1233	1	UNC5C	4	96140171	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	114525	96140171	95014105	473	45206											
DDIT4L	115265	broad.mit.edu	37	chr4	101108887	101108887	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagtaaagttttttcttaaCaagtcgaaatcctgagctga	8	6	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:101108887C>A	uc003hvq.2	-	3	732	c.529G>T	c.(529-531)GTT>TTT	p.V177F		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	177					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		TTTTTCTTAACAAGTCGAAAT	0.383													A	101108887	C	A	101108887	3	1	63	1	0	0	0	0	1	0	0	0	4332	478	17	5	56	5	DDIT4L	4	101108887	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4968716	101108887	90045389	474	45207											
ENPEP	2028	broad.mit.edu	37	chr4	111474510	111474510	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacacgaaccttattaaaacTcaggatgtgtttacagtcat	7	8	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:111474510T>G	uc003iab.3	+	18	2883	c.2541T>G	c.(2539-2541)ACT>ACG	p.T847T		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	847	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TTATTAAAACTCAGGATGTGT	0.368													G	111474510	T	G	111474510	2	3	63	1	0	0	0	0	0	0	0	1	5128	1538	54	5		5	ENPEP	4	111474510	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	10365623	111474510	79679766	475	45208											
ARSJ	79642	broad.mit.edu	37	chr4	114824717	114824717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccattttccgaccatatgCgttgaatatccaacctcctt	5	13	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:114824717C>T	uc003ibq.1	-	2	1401	c.513G>A	c.(511-513)ACG>ACA	p.T171T	ARSJ_uc010imu.1_Silent_p.T171T|ARSJ_uc010imv.1_5'UTR	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	arylsulfatase J precursor	171						extracellular region	arylsulfatase activity|metal ion binding			ovary(1)	1		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CGACCATATGCGTTGAATATC	0.453													T	114824717	C	T	114824717	2	4	63	1	0	0	0	0	0	0	0	1	995	755	27	1		1	ARSJ	4	114824717	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3350207	114824717	76329559	476	45209											
TRAM1L1	133022	broad.mit.edu	37	chr4	118005517	118005517	+	Frame_Shift_Del	DEL	T	T	-													tcccactccgttttctgttcTttttttagaagatctcgacc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:118005516_118005516CT>C	uc003ibv.4	-	0	1221	c.1034_1034AG>G	c.(1033-1035)agafs	p.R345fs		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	345					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GTTTTCTGTTCTTTTTTTAGA	0.388													-	118005517	T	-	118005517	7	5	63	1	0	1	0	1	0	0	0	0	16449	1617	56	0	80	0	TRAM1L1	4	118005517	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	3180800	118005517	73148759	477	45210											
SYNPO2	171024	broad.mit.edu	37	chr4	119978598	119978598	+	Frame_Shift_Del	DEL	C	C	-													ttcctggaagatcagtcccaCcccccatttctacatctcct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:119978597_119978597AC>A	uc010inb.3	+	4	3490	c.3294_3294AC>A	c.(3292-3294)ccafs	p.P1098fs	SYNPO2_uc011cgh.2_Frame_Shift_Del_p.H100fs|SYNPO2_uc010inc.3_Frame_Shift_Del_p.P968fs	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	756						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GATCAGTCCCACCCCCCATTT	0.408													-	119978598	C	-	119978598	7	5	63	1	0	1	0	1	0	0	0	0	15454	507	18	0	3425	0	SYNPO2	4	119978598	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	1973081	119978598	71175678	478	45211											
KIAA1109	84162	broad.mit.edu	37	chr4	123193562	123193562	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttaaggaaaaaatgaaaggTatgaatgatttttctaataa	7	2	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:123193562T>C	uc003ieh.2	+	46	8491	c.8446_splice	c.e46+2	p.D2816_splice	KIAA1109_uc003iel.1_Splice_Site_p.D751_splice|KIAA1109_uc003iek.2_Splice_Site_p.D1435_splice	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein						regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AAATGAAAGGTATGAATGATT	0.363													C	123193562	T	C	123193562	5	2	63	1	0	0	0	0	0	0	1	0	8208	1652	57	3	8630	3	KIAA1109	4	123193562	Splice_Site	SNP	T	TCGA-BR-8078-01A-11D-2340-08	3214964	123193562	67960714	479	45212											
FGF2	2247	broad.mit.edu	37	chr4	123748461	123748461	+	Frame_Shift_Del	DEL	C	C	-													ggcttcttcctgcgcatccaCcccgacggccgagttgacgg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:123748460_123748460AC>A	uc003iev.1	+	0	598	c.530_530AC>A	c.(529-531)cacfs	p.H177fs		NM_002006	NP_001997	P09038	FGF2_HUMAN	Homo sapiens fibroblast growth factor 2 (basic) (FGF2), mRNA.	177					Ras protein signal transduction|activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity	p.H177N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)	CTGCGCATCCACCCCGACGGC	0.667													-	123748461	C	-	123748461	7	5	63	1	0	1	0	1	0	0	0	0	5848	506	18	0	533	0	FGF2	4	123748461	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	554899	123748461	67405815	480	45213											
FAT4	79633	broad.mit.edu	37	chr4	126372724	126372724	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtgaaggagaagtcaTggaaaacaaacggccaggca	13	7	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:126372724T>C	uc003ifj.3	+	9	10553	c.10553T>C	c.(10552-10554)ATG>ACG	p.M3518T	FAT4_uc011cgp.1_Missense_Mutation_p.M1816T|FAT4_uc003ifi.1_Missense_Mutation_p.M996T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3518	Cadherin 34.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GGAGAAGTCATGGAAAACAAA	0.488													C	126372724	T	C	126372724	3	2	63	1	0	0	0	0	1	0	0	0	5692	1464	51	3	10587	3	FAT4	4	126372724	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	2624263	126372724	64781552	481	45214											
PCDH10	57575	broad.mit.edu	37	chr4	134073510	134073510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgatcgtgctggccgtgCgttgccaaaaagagaagaag	13	9	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:134073510C>T	uc003iha.2	+	1	3041	c.2215C>T	c.(2215-2217)CGT>TGT	p.R739C	PCDH10_uc003igz.2_Missense_Mutation_p.R739C	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	739	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GCTGGCCGTGCGTTGCCAAAA	0.592													T	134073510	C	T	134073510	3	4	63	1	0	0	0	0	1	0	0	0	11507	768	27	1	2217	1	PCDH10	4	134073510	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	7700786	134073510	57080766	482	45215											
SLC7A11	23657	broad.mit.edu	37	chr4	139153476	139153476	+	Frame_Shift_Del	DEL	A	A	-													tcagggatttcacattgaatAaaaaatggttccagaatgta							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:139153475_139153475TA>T	uc021xrw.1	-	2	746	c.466_466TA>A	c.(466-468)attfs	p.I156fs		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	156					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	TCACATTGAATAAAAAATGGT	0.373													-	139153476	A	-	139153476	7	5	63	1	0	1	0	1	0	0	0	0	14694	359	13	0	1080	0	SLC7A11	4	139153476	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	5079966	139153476	52000800	483	45216											
MGST2	4258	broad.mit.edu	37	chr4	140624683	140624683	+	Frame_Shift_Del	DEL	A	A	-													ggggatattcagaagctgctAaaaaacggtaaggagaaccc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:140624682_140624682TA>T	uc003ihy.3	+	3	555	c.303_303TA>T	c.(301-303)gctfs	p.A101fs	MGST2_uc021xsf.1_Frame_Shift_Del_p.A101fs|MGST2_uc010ioi.1_Frame_Shift_Del_p.A33fs|MGST2_uc021xse.1_Frame_Shift_Del_p.*78fs	NM_002413	NP_001191296	Q99735	MGST2_HUMAN	Homo sapiens microsomal glutathione S-transferase 2 (MGST2), transcript variant 1, mRNA.	101			A -> V (in dbSNP:rs8192111).		glutathione biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane|plasma membrane	enzyme activator activity|glutathione peroxidase activity|glutathione transferase activity|leukotriene-C4 synthase activity			lung(1)|ovary(1)	2	all_hematologic(180;0.162)				Glutathione(DB00143)	CAGAAGCTGCTAAAAAACGGT	0.408													-	140624683	A	-	140624683	7	5	63	1	0	1	0	1	0	0	0	0	9561	363	13	0	318	0	MGST2	4	140624683	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	1471207	140624683	50529593	484	45217											
INPP4B	8821	broad.mit.edu	37	chr4	143045801	143045801	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacactggggcaagctgtaCgcaagttcctgaaggagcac	13	10	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:143045801C>T	uc003iix.3	-	20	2428	c.1833G>A	c.(1831-1833)GCG>GCA	p.A611A	INPP4B_uc003iiw.3_Silent_p.A611A|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Silent_p.A426A|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Silent_p.A482A	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	611					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					GCAAGCTGTACGCAAGTTCCT	0.502													T	143045801	C	T	143045801	2	4	63	1	0	0	0	0	0	0	0	1	7753	523	19	1		1	INPP4B	4	143045801	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2421118	143045801	48108475	485	45218											
HHIP	64399	broad.mit.edu	37	chr4	145629318	145629318	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actctgtcccccaatttctcAgtgatttcacaggctcagtg	7	13	4	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:145629318A>G	uc003ijs.1	+	7	1813	c.1158_splice	c.e7-2	p.S386_splice		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor							cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CCAATTTCTCAGTGATTTCAC	0.413													G	145629318	A	G	145629318	5	3	63	1	0	0	0	0	0	0	1	0	7092	202	7	3	1182	3	HHIP	4	145629318	Splice_Site	SNP	A	TCGA-BR-8078-01A-11D-2340-08	2583517	145629318	45524958	486	45219											
ZNF827	152485	broad.mit.edu	37	chr4	146791492	146791492	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggggctttagtgcgtcctcaGagacgcctggggctgacact	15	11	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:146791492G>T	uc003ikn.2	-	5	1934	c.1886C>A	c.(1885-1887)TCT>TAT	p.S629Y	ZNF827_uc003ikm.2_Missense_Mutation_p.S629Y|ZNF827_uc010iox.2_Missense_Mutation_p.S279Y	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					TGCGTCCTCAGAGACGCCTGG	0.547													T	146791492	G	T	146791492	3	4	63	1	0	0	0	0	1	0	0	0	18177	942	33	5	1383	5	ZNF827	4	146791492	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1162174	146791492	44362784	487	45220											
LRBA	987	broad.mit.edu	37	chr4	151388891	151388891	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctgattcataattagtgatGacccaaggaaacactggata	8	7	2	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:151388891G>A	uc010ipj.2	-	45	7221	c.6747C>T	c.(6745-6747)GTC>GTT	p.V2249V	LRBA_uc010ipi.2_5'UTR|LRBA_uc003ils.3_Silent_p.V139V|LRBA_uc003ilt.3_Silent_p.V897V|LRBA_uc003ilu.3_Silent_p.V2238V	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2249	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					AATTAGTGATGACCCAAGGAA	0.328													A	151388891	G	A	151388891	2	1	63	1	0	0	0	0	0	0	0	1	8931	1277	45	4		4	LRBA	4	151388891	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	4597399	151388891	39765385	488	45221											
LRBA	987	broad.mit.edu	37	chr4	151749605	151749605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgctgattgcatctgggCctgcactgacaccaggaggt	12	13	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:151749605C>T	uc010ipj.2	-	30	5372	c.4898G>A	c.(4897-4899)GGC>GAC	p.G1633D	LRBA_uc003ilt.3_Missense_Mutation_p.G292D|LRBA_uc003ilu.3_Missense_Mutation_p.G1633D	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1633						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					TGCATCTGGGCCTGCACTGAC	0.488													T	151749605	C	T	151749605	3	4	63	1	0	0	0	0	1	0	0	0	8931	739	26	2	3809	2	LRBA	4	151749605	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	360714	151749605	39404671	489	45222											
KIAA0922	23240	broad.mit.edu	37	chr4	154519885	154519885	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgatggactgccgtagacGtgagttcatatgtgtggcac	14	8	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:154519885G>A	uc003inm.3	+	21	2315	c.2263_splice	c.e21+1	p.Q755_splice	KIAA0922_uc010ipp.2_Splice_Site_p.Q756_splice|KIAA0922_uc010ipq.2_Splice_Site_p.Q524_splice	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2							integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				TGCCGTAGACGTGAGTTCATA	0.423													A	154519885	G	A	154519885	5	1	63	1	0	0	0	0	0	0	1	0	8201	1159	40	1	2349	1	KIAA0922	4	154519885	Splice_Site	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2770280	154519885	36634391	490	45223											
FSTL5	56884	broad.mit.edu	37	chr4	162402271	162402271	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgacattaacagctgatgcCcacacacacctctgaacttc	5	14	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:162402271C>A	uc003iqh.2	-	13	1945	c.1509G>T	c.(1507-1509)TGG>TGT	p.W503C	FSTL5_uc003iqi.2_Missense_Mutation_p.W502C|FSTL5_uc010iqv.2_Missense_Mutation_p.W493C	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	503						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAGCTGATGCCCACACACACC	0.388													A	162402271	C	A	162402271	3	1	63	1	0	0	0	0	1	0	0	0	6080	624	22	5	1050	5	FSTL5	4	162402271	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	7882386	162402271	28752005	491	45224											
FSTL5	56884	broad.mit.edu	37	chr4	163032431	163032431	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattgactgtaccttatgtcGcaatctcattagaggctgat	8	8	1	3	rs141917472	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:163032431G>A	uc003iqh.2	-	2	554	c.118C>T	c.(118-120)CGA>TGA	p.R40*	FSTL5_uc003iqi.2_Nonsense_Mutation_p.R40*|FSTL5_uc010iqv.2_Nonsense_Mutation_p.R40*	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	40						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ACCTTATGTCGCAATCTCATT	0.393													A	163032431	G	A	163032431	4	1	63	1	0	0	0	0	0	1	0	0	6080	1095	38	1	2485	1	FSTL5	4	163032431	Nonsense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	630160	163032431	28121845	492	45225											
NPY5R	4889	broad.mit.edu	37	chr4	164272058	164272058	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattcatacagaattgccttTactatctctttattgctagt	5	8	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:164272058T>C	uc003iqn.2	+	4	815	c.633T>C	c.(631-633)TTT>TTC	p.F211F		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	211	Helical; Name=5; (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				lung(6)|skin(1)	7	all_hematologic(180;0.166)	Prostate(90;0.109)				GAATTGCCTTTACTATCTCTT	0.388													C	164272058	T	C	164272058	2	2	63	1	0	0	0	0	0	0	0	1	10610	1751	61	3		3	NPY5R	4	164272058	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1239627	164272058	26882218	493	45226											
ANXA10	11199	broad.mit.edu	37	chr4	169105789	169105789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgctgaccataaggaaacGatacaaagagcgatatggaa	10	8	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:169105789G>A	uc003irm.2	+	11	1008	c.863G>A	c.(862-864)CGA>CAA	p.R288Q	ANXA10_uc003irn.2_Missense_Mutation_p.R160Q	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	annexin A10	288	Annexin 4.						calcium ion binding|calcium-dependent phospholipid binding				0		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		ATAAGGAAACGATACAAAGAG	0.363													A	169105789	G	A	169105789	3	1	63	1	0	0	0	0	1	0	0	0	715	1058	37	1	905	1	ANXA10	4	169105789	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	4833731	169105789	22048487	494	45227											
SH3RF1	57630	broad.mit.edu	37	chr4	170077617	170077617	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacttcaaagtcataaagtgCtttgcactgaggtgggggct	12	8	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:170077617C>A	uc003isa.1	-	3	942	c.607G>T	c.(607-609)GCA>TCA	p.A203S	SH3RF1_uc010irc.1_5'UTR	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	203	SH3 2.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCATAAAGTGCTTTGCACTGA	0.433													A	170077617	C	A	170077617	3	1	63	1	0	0	0	0	1	0	0	0	14258	797	28	5	2099	5	SH3RF1	4	170077617	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	971828	170077617	21076659	495	45228											
GLRA3	8001	broad.mit.edu	37	chr4	175749958	175749958	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccgaaagtgtctcacgtggGccatgatacggagagatatt	12	8	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:175749958G>T	uc003ity.1	-	1	508	c.5C>A	c.(4-6)GCC>GAC	p.A2D	GLRA3_uc003itz.1_Missense_Mutation_p.A2D|uc003iua.1_5'Flank|uc003iub.1_5'Flank	NM_006529	NP_006520	O75311	GLRA3_HUMAN	glycine receptor, alpha 3 isoform a	2					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(3)	3		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	TCTCACGTGGGCCATGATACG	0.453													T	175749958	G	T	175749958	3	4	63	1	0	0	0	0	1	0	0	0	6456	1203	42	5	1429	5	GLRA3	4	175749958	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	5672341	175749958	15404318	496	45229											
VEGFC	7424	broad.mit.edu	37	chr4	177650714	177650714	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatctctgtattataatgtgCtgcagcaaattttatagtct	7	6	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:177650714C>A	uc003ius.1	-	2	764	c.334G>T	c.(334-336)GCA>TCA	p.A112S		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	112					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(5)	5		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TTATAATGTGCTGCAGCAAAT	0.378													A	177650714	C	A	177650714	3	1	63	1	0	0	0	0	1	0	0	0	17149	797	28	5	952	5	VEGFC	4	177650714	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1900756	177650714	13503562	497	45230											
ODZ3	55714	broad.mit.edu	37	chr4	183651421	183651421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acttattggagtaaatgtctCgtttttccattacccagaat	6	8	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:183651421C>T	uc003ivd.1	+	14	2691	c.2654C>T	c.(2653-2655)TCG>TTG	p.S885L	ODZ3_uc003ive.1_Missense_Mutation_p.S291L	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	885	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GTAAATGTCTCGTTTTTCCAT	0.408													T	183651421	C	T	183651421	3	4	63	1	0	0	0	0	1	0	0	0	10836	893	31	1	2708	1	ODZ3	4	183651421	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	6000707	183651421	7502855	498	45231											
WWC2	80014	broad.mit.edu	37	chr4	184187099	184187099	+	Frame_Shift_Del	DEL	A	A	-													ttcttgatacctcatacttcAaaagtgtaagtaaaatcagc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:184187099delA	uc010irx.2	+	14	2384	c.2202delA	c.(2200-2202)TCAfs	p.S734fs	WWC2_uc003ivk.3_Frame_Shift_Del_p.S529fs|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Frame_Shift_Del_p.S416fs|WWC2_uc003ivn.3_Frame_Shift_Del_p.S249fs|WWC2_uc010irz.2_Frame_Shift_Del_p.S51fs	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	734	C2.									ovary(2)|lung(1)	3		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CTCATACTTCAAAAGTGTAAG	0.338													-	184187099	A	-	184187099	7	5	63	1	0	1	0	1	0	0	0	0	17409	117	5	0	2256	0	WWC2	4	184187099	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	535678	184187099	6967177	499	45232											
AHRR	57491	broad.mit.edu	37	chr5	424011	424011	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagtggggcacaggcacGcccaccgagtactcggcctt	14	14	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:424011G>A	uc003jav.2	+	7	683	c.639G>A	c.(637-639)ACG>ACA	p.T213T	AHRR_uc003jaw.2_Silent_p.T209T|AHRR_uc010isy.2_Silent_p.T59T|AHRR_uc010isz.2_Silent_p.T209T|AHRR_uc003jax.2_5'UTR|AHRR_uc003jay.2_Silent_p.T69T	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCACAGGCACGCCCACCGAGT	0.667													A	424011	G	A	424011	2	1	63	1	0	0	0	0	0	0	0	1	417	1074	38	1		1	AHRR	5	424011	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08		424011	180491249	500	45233											
CEP72	55722	broad.mit.edu	37	chr5	640665	640665	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagcagcagcagcagcaCgcccgggagatgagcgaggt	17	11	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:640665C>T	uc003jbf.2	+	9	1557	c.1485C>T	c.(1483-1485)CAC>CAT	p.H495H		NM_018140	NP_060610	Q9P209	CEP72_HUMAN	centrosomal protein 72 kDa	495	Potential.				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				ovary(1)	1			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AGCAGCAGCACGCCCGGGAGA	0.637													T	640665	C	T	640665	2	4	63	1	0	0	0	0	0	0	0	1	3260	535	19	1		1	CEP72	5	640665	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	216654	640665	180274595	501	45234											
TRIP13	9319	broad.mit.edu	37	chr5	896840	896840	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagctgaatgaagatggcCccagcagtgaaaatctggag	12	9	1	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:896840C>A	uc003jbr.2	+	3	429	c.319C>A	c.(319-321)CCC>ACC	p.P107T	TRIP13_uc010ite.1_Missense_Mutation_p.P107T	NM_004237	NP_004228	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	107					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity				0			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			TGAAGATGGCCCCAGCAGTGA	0.463													A	896840	C	A	896840	3	1	63	1	0	0	0	0	1	0	0	0	16554	623	22	5	329	5	TRIP13	5	896840	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	256175	896840	180018420	502	45235											
IRX2	153572	broad.mit.edu	37	chr5	2749519	2749519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcctctgccgaggtctccGtgccctcctgcgccttgtcg	11	18	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:2749519G>A	uc003jda.2	-	2	874	c.632C>T	c.(631-633)ACG>ATG	p.T211M	C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Missense_Mutation_p.T211M	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	211						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		CGAGGTCTCCGTGCCCTCCTG	0.667													A	2749519	G	A	2749519	3	1	63	1	0	0	0	0	1	0	0	0	7844	1145	40	1	795	1	IRX2	5	2749519	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1852679	2749519	178165741	503	45236											
ADAMTS16	170690	broad.mit.edu	37	chr5	5306750	5306750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagcctggagctggaacGtgcctgcgccccgcttccat	12	17	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:5306750G>A	uc003jdl.2	+	21	3458	c.3320G>A	c.(3319-3321)CGT>CAT	p.R1107H		NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1107	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						GAGCTGGAACGTGCCTGCGCC	0.577													A	5306750	G	A	5306750	3	1	63	1	0	0	0	0	1	0	0	0	261	1145	40	1	3402	1	ADAMTS16	5	5306750	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2557231	5306750	175608510	504	45237											
CTNND2	1501	broad.mit.edu	37	chr5	11384885	11384885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggtgggcgacagggtggCgtacgtgccgatggtggagc	20	8	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:11384885C>T	uc003jfa.1	-	7	1214	c.1069G>A	c.(1069-1071)GCC>ACC	p.A357T	CTNND2_uc010itt.2_Missense_Mutation_p.A266T|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	357					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						GACAGGGTGGCGTACGTGCCG	0.697													T	11384885	C	T	11384885	3	4	63	1	0	0	0	0	1	0	0	0	4020	768	27	1	2672	1	CTNND2	5	11384885	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	6078135	11384885	169530375	505	45238											
DNAH5	1767	broad.mit.edu	37	chr5	13729644	13729644	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgatggttttggaggacaAgctttaaggtctaatgaggc	13	4	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:13729644A>G	uc003jfd.2	-	69	11829	c.11787T>C	c.(11785-11787)GCT>GCC	p.A3929A	DNAH5_uc003jfc.2_Silent_p.A97A	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3929					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)					TTGGAGGACAAGCTTTAAGGT	0.338									Kartagener_syndrome				G	13729644	A	G	13729644	2	3	63	1	0	0	0	0	0	0	0	1	4604	59	3	3		3	DNAH5	5	13729644	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	2344759	13729644	167185616	506	45239											
DNAH5	1767	broad.mit.edu	37	chr5	13809285	13809285	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtacgcgtgttccagtgCgtccatgtacctaaggtgag	14	9	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:13809285C>T	uc003jfd.2	-	46	7662	c.7620G>A	c.(7618-7620)ACG>ACA	p.T2540T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2540					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)					TGTTCCAGTGCGTCCATGTAC	0.448									Kartagener_syndrome				T	13809285	C	T	13809285	2	4	63	1	0	0	0	0	0	0	0	1	4604	755	27	1		1	DNAH5	5	13809285	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	79641	13809285	167105975	507	45240											
CDH10	1008	broad.mit.edu	37	chr5	24511519	24511519	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgtcaccatcaataattcGgtattctacttcagcatttt	4	11	4	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:24511519G>A	uc003jgr.1	-	6	1251	c.919C>T	c.(919-921)CGA>TGA	p.R307*	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	307	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		TCAATAATTCGGTATTCTACT	0.438										HNSCC(23;0.051)			A	24511519	G	A	24511519	4	1	63	1	0	0	0	0	0	1	0	0	3096	1124	39	1	1475	1	CDH10	5	24511519	Nonsense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	10702234	24511519	156403741	508	45241											
CDH9	1007	broad.mit.edu	37	chr5	26902626	26902626	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctggatcgtatgctgtaacCtgtccaatgatactgccctc	8	12	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:26902626C>A	uc003jgs.1	-	7	1381	c.1212G>T	c.(1210-1212)CAG>CAT	p.Q404H		NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	404	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						ATGCTGTAACCTGTCCAATGA	0.323													A	26902626	C	A	26902626	3	1	63	1	0	0	0	0	1	0	0	0	3117	680	24	5	1181	5	CDH9	5	26902626	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2391107	26902626	154012634	509	45242											
RNASEN	29102	broad.mit.edu	37	chr5	31526816	31526816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaagggtacaaagtctggtCgtggagggagaaaattgggg	19	3	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:31526816C>T	uc003jhg.2	-	4	583	c.224G>A	c.(223-225)CGA>CAA	p.R75Q	RNASEN_uc003jhh.2_Missense_Mutation_p.R75Q|RNASEN_uc003jhi.2_Missense_Mutation_p.R75Q|RNASEN_uc010iui.1_Missense_Mutation_p.R66Q	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	75	Pro-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						AAAGTCTGGTCGTGGAGGGAG	0.582													T	31526816	C	T	31526816	3	4	63	1	0	0	0	0	1	0	0	0	13417	884	31	1	4028	1	RNASEN	5	31526816	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4624190	31526816	149388444	510	45243											
C5orf22	55322	broad.mit.edu	37	chr5	31541435	31541435	+	Frame_Shift_Del	DEL	T	T	-													cgaattcatcaattagaggaTttagaagccactttcgctga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:31541435delT	uc003jhj.3	+	6	1045	c.918delT	c.(916-918)GATfs	p.D306fs	C5orf22_uc011cnw.1_RNA|C5orf22_uc003jhk.3_Frame_Shift_Del_p.D41fs	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	hypothetical protein LOC55322	306										ovary(2)	2						AATTAGAGGATTTAGAAGCCA	0.348													-	31541435	T	-	31541435	7	5	63	1	0	1	0	1	0	0	0	0	2285	1490	52	0	940	0	C5orf22	5	31541435	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	14619	31541435	149373825	511	45244											
PDZD2	23037	broad.mit.edu	37	chr5	32072392	32072392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagtggctgcagcacgtcGgaggagggcagcctgcctcc	17	12	0	0	rs112339948	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:32072392G>A	uc003jhl.2	+	17	3082	c.2694G>A	c.(2692-2694)TCG>TCA	p.S898S	PDZD2_uc003jhm.2_Silent_p.S898S|PDZD2_uc011cnx.1_Silent_p.S724S	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	898					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GCAGCACGTCGGAGGAGGGCA	0.627													A	32072392	G	A	32072392	2	1	63	1	0	0	0	0	0	0	0	1	11701	1103	39	1		1	PDZD2	5	32072392	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	530957	32072392	148842868	512	45245											
RAD1	5810	broad.mit.edu	37	chr5	34915031	34915031	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcggccccgagggatgctcCtggggccaacaacttctcgg	13	14	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:34915031C>A	uc003jix.2	-	2	296	c.-33G>T	c.(-35--31)CAGGA>CATGA		RAD1_uc003jiw.2_Translation_Start_Site|RAD1_uc003jiy.2_Translation_Start_Site|BRIX1_uc003jiz.2_5'Flank|BRIX1_uc011col.1_5'Flank|BRIX1_uc003jja.2_5'Flank	NM_002853	NP_002844	O60671	RAD1_HUMAN	RAD1 homolog						DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding				0	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AGGGATGCTCCTGGGGCCAAC	0.592								Other_conserved_DNA_damage_response_genes					A	34915031	C	A	34915031	1	1	63	1	0	0	0	0	0	0	0	0	12978	696	24	5		5	RAD1	5	34915031	Translation_Start_Site	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2842639	34915031	146000229	513	45246											
SPEF2	79925	broad.mit.edu	37	chr5	35779343	35779344	+	Frame_Shift_Ins	INS	-	-	C													aaaagtcttcccagatcctcINSccccatcaatacgtcctcca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:35779342_35779343T>TC	uc003jjo.3	+	29	4452_4453	c.4341_4342T>TC	c.(4339-4344)cctcccfs	p.P1447fs	SPEF2_uc003jjp.1_Frame_Shift_Ins_p.P933fs|SPEF2_uc003jjr.3_5'UTR	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1447					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCCAGATCCTCCCCCATCAAT	0.401													C	35779344	-	C	35779343	7	5	63	1	0	1	1	0	0	0	0	0	15034	855	30	0	4481	0	SPEF2	5	35779343	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	864312	35779343	145135917	514	45247											
C5orf42	65250	broad.mit.edu	37	chr5	37169238	37169238	+	Frame_Shift_Del	DEL	T	T	-													cacgtcttctgctcaacttcTttttttctggcttcagtgtt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:37169237_37169237CT>C	uc011cpa.1	-	33	7120	c.6889_6889AG>G	c.(6889-6891)gaafs	p.E2297fs	C5orf42_uc011coy.1_Frame_Shift_Del_p.E797fs|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Frame_Shift_Del_p.E1372fs|C5orf42_uc003jkr.1_Frame_Shift_Del_p.E330fs	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2297										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGCTCAACTTCTTTTTTTCTG	0.413													-	37169238	T	-	37169238	7	5	63	1	0	1	0	1	0	0	0	0	2301	1606	56	0	2781	0	C5orf42	5	37169238	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	1389895	37169238	143746022	515	45248											
OXCT1	5019	broad.mit.edu	37	chr5	41850186	41850186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttgttgtatttgatgggCgatcctccttcttgtaccag	9	9	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:41850186C>T	uc003jmn.2	-	5	841	c.510G>A	c.(508-510)TCG>TCA	p.S170S		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	170					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)	ATTTGATGGGCGATCCTCCTT	0.512													T	41850186	C	T	41850186	2	4	63	1	0	0	0	0	0	0	0	1	11329	755	27	1		1	OXCT1	5	41850186	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4680948	41850186	139065074	516	45249											
OXCT1	5019	broad.mit.edu	37	chr5	41853524	41853524	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaaattttctcacctgTggtgtcagctccacttctaa	6	11	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:41853524T>A	uc003jmn.2	-	4	742	c.411A>T	c.(409-411)CCA>CCT	p.P137P		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	137					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)	TTCTCACCTGTGGTGTCAGCT	0.368													A	41853524	T	A	41853524	2	1	63	1	0	0	0	0	0	0	0	1	11329	1683	59	5		5	OXCT1	5	41853524	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	3338	41853524	139061736	517	45250											
DEPDC1B	55789	broad.mit.edu	37	chr5	59940657	59940657	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgaattgacaagtttgacGtctaaaacttcttctaagga	7	7	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:59940657G>A	uc003jsh.2	-	5	697	c.624C>T	c.(622-624)GAC>GAT	p.D208D	DEPDC1B_uc011cqm.1_Silent_p.D208D|DEPDC1B_uc011cqn.1_Silent_p.D181D	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	208	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CAAGTTTGACGTCTAAAACTT	0.299													A	59940657	G	A	59940657	2	1	63	1	0	0	0	0	0	0	0	1	4440	1136	40	1		1	DEPDC1B	5	59940657	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	18087133	59940657	120974603	518	45251											
KIF2A	3796	broad.mit.edu	37	chr5	61648515	61648515	+	Frame_Shift_Del	DEL	A	A	-													atatctccagttcaagctgcAaaaaaggaatttggaccccc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:61648515delA	uc003jsy.3	+	5	746	c.435delA	c.(433-435)GCAfs	p.A145fs	KIF2A_uc003jsz.3_Frame_Shift_Del_p.A145fs|KIF2A_uc010iwp.2_Intron|KIF2A_uc003jsx.3_Frame_Shift_Del_p.A125fs|KIF2A_uc010iwq.2_5'UTR	NM_004520	NP_004511	O00139	KIF2A_HUMAN	kinesin heavy chain member 2 isoform 1	145	Globular (Potential).				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding				0		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TTCAAGCTGCAAAAAAGGAAT	0.408													-	61648515	A	-	61648515	7	5	63	1	0	1	0	1	0	0	0	0	8297	117	5	0	453	0	KIF2A	5	61648515	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	1707858	61648515	119266745	519	45252											
RGS7BP	401190	broad.mit.edu	37	chr5	63905019	63905019	+	Frame_Shift_Del	DEL	C	C	-													cttctgaatctaactccctaCcccctggtgagaagacggaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:63905018_63905018AC>A	uc003jtj.3	+	5	713	c.713_713AC>A	c.(712-714)tacfs	p.Y238fs	RGS7BP_uc011cqu.2_Frame_Shift_Del_p.Y105fs	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA.	238					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CTAACTCCCTACCCCCTGGTG	0.468													-	63905019	C	-	63905019	7	5	63	1	0	1	0	1	0	0	0	0	13311	518	18	0	736	0	RGS7BP	5	63905019	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	2256504	63905019	117010241	520	45253											
ADAMTS6	11174	broad.mit.edu	37	chr5	64595832	64595832	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctagaaagctggtgatgtaGtctcgactgcaagcagacca	11	9	2	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:64595832G>A	uc003jtp.2	-	10	2164	c.1350C>T	c.(1348-1350)GAC>GAT	p.D450D	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Silent_p.D71D	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	450	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TGGTGATGTAGTCTCGACTGC	0.433													A	64595832	G	A	64595832	2	1	63	1	0	0	0	0	0	0	0	1	270	1020	36	4		4	ADAMTS6	5	64595832	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	690813	64595832	116319428	521	45254											
MARVELD2	153562	broad.mit.edu	37	chr5	68715652	68715652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggaacctttagttcccGgaaagaggctgacgcagtgt	13	8	0	3	rs143318841		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:68715652G>A	uc003jwq.2	+	2	499	c.440G>A	c.(439-441)CGG>CAG	p.R147Q	MARVELD2_uc010ixf.2_Missense_Mutation_p.R147Q|MARVELD2_uc003jwr.1_Missense_Mutation_p.R147Q|MARVELD2_uc003jws.1_RNA	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2 isoform 1	147	Cytoplasmic (Potential).				sensory perception of sound	integral to membrane|tight junction					0		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TTTAGTTCCCGGAAAGAGGCT	0.532													A	68715652	G	A	68715652	3	1	63	1	0	0	0	0	1	0	0	0	9318	1116	39	1	442	1	MARVELD2	5	68715652	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	4119820	68715652	112199608	522	45255											
MAP1B	4131	broad.mit.edu	37	chr5	71490660	71490660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcctgtttcctgggaacaGcacccagtacaacatcctgg	9	13	0	0	rs140205740		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:71490660G>A	uc003kbw.3	+	5	1719	c.1478G>A	c.(1477-1479)AGC>AAC	p.S493N	MAP1B_uc010iyw.1_Missense_Mutation_p.S510N|MAP1B_uc010iyx.1_Missense_Mutation_p.S367N|MAP1B_uc010iyy.1_Missense_Mutation_p.S367N	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	493						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCTGGGAACAGCACCCAGTAC	0.502													A	71490660	G	A	71490660	3	1	63	1	0	0	0	0	1	0	0	0	9228	971	34	2	1496	2	MAP1B	5	71490660	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2775008	71490660	109424600	523	45256											
POC5	134359	broad.mit.edu	37	chr5	74981154	74981154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgagggaacggcagtcgCgctggctcctccgacggcgg	17	13	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:74981154C>T	uc003keh.3	-	10	1482	c.1285G>A	c.(1285-1287)GCG>ACG	p.A429T	POC5_uc010izu.2_Missense_Mutation_p.A312T|POC5_uc003keg.3_Missense_Mutation_p.A404T	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN	proteome of centriole 5 isoform 1	429					cell cycle	centriole				lung(1)	1						ACGGCAGTCGCGCTGGCTCCT	0.572													T	74981154	C	T	74981154	3	4	63	1	0	0	0	0	1	0	0	0	12177	768	27	1	454	1	POC5	5	74981154	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3490494	74981154	105934106	524	45257											
CMYA5	202333	broad.mit.edu	37	chr5	79028654	79028654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagttcctcaacaactacaGcatctgtaactaagcttgat	5	12	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:79028654G>A	uc003kgc.2	+	2	4138	c.4066G>A	c.(4066-4068)GCA>ACA	p.A1356T		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1356						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACAACTACAGCATCTGTAAC	0.383													A	79028654	G	A	79028654	3	1	63	1	0	0	0	0	1	0	0	0	3590	971	34	2	4072	2	CMYA5	5	79028654	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	4047500	79028654	101886606	525	45258											
GPR98	84059	broad.mit.edu	37	chr5	89979908	89979908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctaatcagagtgaggcaaCaatagctatttcaattttgg	9	6	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:89979908C>T	uc003kju.2	+	28	6266	c.6170C>T	c.(6169-6171)ACA>ATA	p.T2057I	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2057	Calx-beta 14.|Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGTGAGGCAACAATAGCTATT	0.403													T	89979908	C	T	89979908	3	4	63	1	0	0	0	0	1	0	0	0	6721	478	17	4	6280	4	GPR98	5	89979908	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	10951254	89979908	90935352	526	45259											
ST8SIA4	7903	broad.mit.edu	37	chr5	100238558	100238558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatttacccgatgagttgCgtctcctggtgctcctcagt	10	12	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:100238558C>T	uc003knk.2	-	1	430	c.102G>A	c.(100-102)ACG>ACA	p.T34T	ST8SIA4_uc003knl.2_Silent_p.T34T	NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	34	Lumenal (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CGATGAGTTGCGTCTCCTGGT	0.413													T	100238558	C	T	100238558	2	4	63	1	0	0	0	0	0	0	0	1	15233	755	27	1		1	ST8SIA4	5	100238558	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	10258650	100238558	80676702	527	45260											
PAM	5066	broad.mit.edu	37	chr5	102237087	102237087	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catacttctgcatgtctatgCgaataccagtggatgaggaa	10	8	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:102237087C>T	uc003knw.2	+	3	611	c.238C>T	c.(238-240)CGA>TGA	p.R80*	PAM_uc003kns.2_Nonsense_Mutation_p.R80*|PAM_uc003knt.2_Nonsense_Mutation_p.R80*|PAM_uc003knu.2_Nonsense_Mutation_p.R80*|PAM_uc003knv.2_Nonsense_Mutation_p.R80*|PAM_uc011cuz.1_Intron	NM_000919	NP_000910	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	80	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).|Intragranular (Potential).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding				0		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CATGTCTATGCGAATACCAGT	0.348													T	102237087	C	T	102237087	4	4	63	1	0	0	0	0	0	1	0	0	11412	760	27	1	248	1	PAM	5	102237087	Nonsense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1998529	102237087	78678173	528	45261											
MCC	4163	broad.mit.edu	37	chr5	112824048	112824048	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgctgctgctgccgcTgccgccgccgccgccgccgc	14	21	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:112824048T>C	uc003kql.3	-	1	480	c.64A>G	c.(64-66)AGC>GGC	p.S22G		NM_001085377	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccg	0.388													C	112824048	T	C	112824048	3	2	63	1	0	0	0	0	1	0	0	0	9373	1580	55	3	3132	3	MCC	5	112824048	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	10586961	112824048	68091212	529	45262											
KCNN2	3781	broad.mit.edu	37	chr5	113698754	113698754	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcactggaggaggcggCggcggtggcgggagcgggca	24	9	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:113698754C>T	uc003kqo.2	+	1	739	c.282C>T	c.(280-282)GGC>GGT	p.G94G		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	94	Poly-Gly.					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		gaggaggcggcggcggtggcg	0.383													T	113698754	C	T	113698754	2	4	63	1	0	0	0	0	0	0	0	1	8079	755	27	1		1	KCNN2	5	113698754	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	874706	113698754	67216506	530	45263											
SNX24	28966	broad.mit.edu	37	chr5	122272504	122272504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcgaatttcatgctttgCacaaaaaggtaacttgtttt	7	7	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:122272504C>T	uc011cwo.1	+	2	305	c.136C>T	c.(136-138)CAC>TAC	p.H46Y	SNX24_uc003ktf.2_Missense_Mutation_p.H46Y|SNX24_uc010jcy.2_Missense_Mutation_p.H46Y	NM_014035	NP_054754	Q9Y343	SNX24_HUMAN	SBBI31 protein	46	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding				0		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		TCATGCTTTGCACAAAAAGGT	0.313													T	122272504	C	T	122272504	3	4	63	1	0	0	0	0	1	0	0	0	14895	710	25	2	142	2	SNX24	5	122272504	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	8573750	122272504	58642756	531	45264											
CEP120	153241	broad.mit.edu	37	chr5	122720714	122720714	+	Frame_Shift_Del	DEL	A	A	-													actgttcaccattagaacctAaaaaacgagttttttctgaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:122720713_122720713TA>T	uc003ktk.3	-	11	1811	c.1695_1695TA>A	c.(1693-1695)ttafs	p.L565fs	CEP120_uc010jcz.2_Frame_Shift_Del_p.L539fs|CEP120_uc011cwq.2_Frame_Shift_Del_p.L374fs	NM_153223	NP_001159698	Q8N960	CE120_HUMAN	Homo sapiens centrosomal protein 120kDa (CEP120), transcript variant 1, mRNA.	565						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CATTAGAACCTAAAAAACGAG	0.373													-	122720714	A	-	122720714	7	5	63	1	0	1	0	1	0	0	0	0	3246	372	13	0	1306	0	CEP120	5	122720714	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	448210	122720714	58194546	532	45265											
CHSY3	337876	broad.mit.edu	37	chr5	129521085	129521085	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccatcatctttagccagtaTgacccaaaggtaacaaacgg	7	12	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:129521085T>C	uc003kvd.2	+	3	2250	c.2250T>C	c.(2248-2250)TAT>TAC	p.Y750Y		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	750	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TTAGCCAGTATGACCCAAAGG	0.408													C	129521085	T	C	129521085	2	2	63	1	0	0	0	0	0	0	0	1	3413	1471	51	3		3	CHSY3	5	129521085	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	6800371	129521085	51394175	533	45266											
H2AFY	9555	broad.mit.edu	37	chr5	134679016	134679016	+	Frame_Shift_Del	DEL	T	T	-													catcagccagggccaagcagTttttcactgtcttttccaga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:134679015_134679015GT>G	uc003lam.1	-	7	1098	c.888_888AC>C	c.(886-888)aacfs	p.N296fs	AK026965_uc003laj.1_Non-coding_Transcript|H2AFY_uc003lal.1_Non-coding_Transcript|H2AFY_uc003lao.1_Frame_Shift_Del_p.N295fs|H2AFY_uc003lan.1_Frame_Shift_Del_p.N293fs|H2AFY_uc011cxz.1_Frame_Shift_Del_p.N124fs|H2AFY_uc003las.1_Frame_Shift_Del_p.N296fs|H2AFY_uc003lat.1_Frame_Shift_Del_p.N295fs	NM_138610	NP_613258	O75367	H2AY_HUMAN	Homo sapiens H2A histone family, member Y (H2AFY), transcript variant 3, mRNA.	296	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGCCAAGCAGTTTTTCACTG	0.512													-	134679016	T	-	134679016	7	5	63	1	0	1	0	1	0	0	0	0	6929	1725	60	0	239	0	H2AFY	5	134679016	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	5157931	134679016	46236244	534	45267											
NEUROG1	4762	broad.mit.edu	37	chr5	134871112	134871112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgacgcgccggctcctgCgcagcgagtgcagcagcgcc	14	17	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:134871112C>T	uc003lax.2	-	1	528	c.269G>A	c.(268-270)CGC>CAC	p.R90H		NM_006161	NP_006152	Q92886	NGN1_HUMAN	neurogenin 1	90					positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCGGCTCCTGCGCAGCGAGTG	0.731													T	134871112	C	T	134871112	3	4	63	1	0	0	0	0	1	0	0	0	10352	768	27	1	448	1	NEUROG1	5	134871112	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	192096	134871112	46044148	535	45268											
LOC153328	153328	broad.mit.edu	37	chr5	135186132	135186132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactcgcctgcaggctggcGttggctacggaaacaccctc	12	14	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:135186132G>A	uc003laz.1	+	3	281	c.109G>A	c.(109-111)GTT>ATT	p.V37I	LOC153328_uc003lba.2_Missense_Mutation_p.V37I			Q6ZT89	S2548_HUMAN	RecName: Full=Putative mitochondrial carrier protein FLJ44862;	37	Solcar 1.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGGCTGGCGTTGGCTACGG	0.627													A	135186132	G	A	135186132	3	1	63	1	0	0	0	0	1	0	0	0	8871	1145	40	1	119	1	LOC153328	5	135186132	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	315020	135186132	45729128	536	45269											
SPOCK1	6695	broad.mit.edu	37	chr5	136834173	136834173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgcgcctccggcgagcgcGtccaggtgccggctctcgac	14	19	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:136834173G>A	uc003lbo.2	-	1	266	c.75C>T	c.(73-75)GAC>GAT	p.D25D	SPOCK1_uc003lbp.2_Silent_p.D25D	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	25					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGCGAGCGCGTCCAGGTGCC	0.697													A	136834173	G	A	136834173	2	1	63	1	0	0	0	0	0	0	0	1	15078	1136	40	1		1	SPOCK1	5	136834173	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1648041	136834173	44081087	537	45270											
MYOT	9499	broad.mit.edu	37	chr5	137221839	137221839	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgccagatctcggctatacCtccaccaaagcttttctgga	7	13	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:137221839C>A	uc011cye.1	+	8	1144	c.1127C>A	c.(1126-1128)CCT>CAT	p.P376H	MYOT_uc003lbv.2_Missense_Mutation_p.P376H|MYOT_uc011cyg.1_Missense_Mutation_p.P192H|MYOT_uc011cyh.1_Missense_Mutation_p.P261H	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	myotilin isoform b	376	Necessary for interaction with ACTA1.|Ig-like C2-type 2.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCGGCTATACCTCCACCAAAG	0.343													A	137221839	C	A	137221839	3	1	63	1	0	0	0	0	1	0	0	0	10094	681	24	5	1153	5	MYOT	5	137221839	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	387666	137221839	43693421	538	45271											
FAM13B	51306	broad.mit.edu	37	chr5	137288332	137288332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatacctttaatttgcttccGcagttttgtaagctctgtca	6	9	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:137288332G>A	uc003lbz.2	-	16	2383	c.1849C>T	c.(1849-1851)CGG>TGG	p.R617W	FAM13B_uc003lcb.2_Missense_Mutation_p.R521W|FAM13B_uc003lca.2_Missense_Mutation_p.R617W	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	hypothetical protein LOC51306 isoform 1	617					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						ATTTGCTTCCGCAGTTTTGTA	0.313													A	137288332	G	A	137288332	3	1	63	1	0	0	0	0	1	0	0	0	5453	1086	38	1	930	1	FAM13B	5	137288332	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	66493	137288332	43626928	539	45272											
EGR1	1958	broad.mit.edu	37	chr5	137802757	137802757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccatttactcagcggcaCccaccttccccacgccgaac	6	20	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:137802757C>T	uc003ldb.1	+	2	889	c.619C>T	c.(619-621)CCC>TCC	p.P207S	EGR1_uc011cyu.1_Intron	NM_001964	NP_001955	P18146	EGR1_HUMAN	early growth response 1	207					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTCAGCGGCACCCACCTTCCC	0.657													T	137802757	C	T	137802757	3	4	63	1	0	0	0	0	1	0	0	0	4971	507	18	4	625	4	EGR1	5	137802757	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	514425	137802757	43112503	540	45273											
DNAJC18	202052	broad.mit.edu	37	chr5	138764375	138764375	+	Splice_Site	DEL	A	A	-													tttctgcatttcttgatcctAaaaaaaatcacaagcatgta							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373													-	138764375	A	-	138764375	8	5	63	1	0	1	0	1	0	0	1	0	4637	377	13	0		0	DNAJC18	5	138764375	Splice_Site	DEL	A	TCGA-BR-8078-01A-11D-2340-08	961618	138764375	42150885	541	45274											
C5orf32	84418	broad.mit.edu	37	chr5	139574029	139574029	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcattctttttgtctcttAggtgcactttacaggtcccc	6	11	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:139574029A>C	uc003lfd.2	+	2	219	c.-19_splice	c.e2-2		C5orf32_uc010jfi.2_Intron	NM_032412	NP_115788	Q9H1C7	CE032_HUMAN	hypothetical protein LOC84418												0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGTCTCTTAGGTGCACTTT	0.428													C	139574029	A	C	139574029	5	2	63	1	0	0	0	0	0	0	1	0	2291	434	15	5		5	C5orf32	5	139574029	Splice_Site	SNP	A	TCGA-BR-8078-01A-11D-2340-08	809654	139574029	41341231	542	45275											
PCDHA1	56147	broad.mit.edu	37	chr5	140167456	140167456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccctggaccacgaggaGctggagctgctgcagttcca	13	14	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140167456G>A	uc003lhb.2	+	1	1581	c.1581G>A	c.(1579-1581)GAG>GAA	p.E527E	PCDHA1_uc003lha.2_Silent_p.E527E|PCDHA1_uc003lgz.2_Silent_p.E527E	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	527	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCACGAGGAGCTGGAGCTGC	0.677													A	140167456	G	A	140167456	2	1	63	1	0	0	0	0	0	0	0	1	11519	962	34	2		2	PCDHA1	5	140167456	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	593427	140167456	40747804	543	45276											
PCDHA10	56139	broad.mit.edu	37	chr5	140237453	140237453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggatacaacgcgtggctgtCgtatgaattgcagtcggcgg	15	8	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140237453C>T	uc003lhx.2	+	1	1820	c.1820C>T	c.(1819-1821)TCG>TTG	p.S607L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.S607L	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	607	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTGTCGTATGAATTG	0.632													T	140237453	C	T	140237453	3	4	63	1	0	0	0	0	1	0	0	0	11520	893	31	1	1822	1	PCDHA10	5	140237453	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	69997	140237453	40677807	544	45277											
PCDHA10	56139	broad.mit.edu	37	chr5	140237811	140237811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgctcggcggcgcccacCgagggcgcatgtgggccggt	19	13	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140237811C>T	uc003lhx.2	+	1	2178	c.2178C>T	c.(2176-2178)ACC>ACT	p.T726T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Silent_p.T726T	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	726	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGCCCACCGAGGGCGCAT	0.652													T	140237811	C	T	140237811	2	4	63	1	0	0	0	0	0	0	0	1	11520	639	23	1		1	PCDHA10	5	140237811	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	358	140237811	40677449	545	45278											
PCDHA11	56138	broad.mit.edu	37	chr5	140250710	140250710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtggagagcggacaggcGccaaaggcctcttcccggac	15	12	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140250710G>A	uc003lia.2	+	1	2880	c.2022G>A	c.(2020-2022)GCG>GCA	p.A674A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.A674A	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	674	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGACAGGCGCCAAAGGCCT	0.662													A	140250710	G	A	140250710	2	1	63	1	0	0	0	0	0	0	0	1	11521	1074	38	1		1	PCDHA11	5	140250710	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	12899	140250710	40664550	546	45279											
PCDHA12	56137	broad.mit.edu	37	chr5	140256956	140256956	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacactggcgagatcagcacGacacgcatcctggatgaggc	12	12	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140256956G>A	uc003lic.2	+	1	2026	c.1899G>A	c.(1897-1899)ACG>ACA	p.T633T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.T633T	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	633	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATCAGCACGACACGCATCC	0.677													A	140256956	G	A	140256956	2	1	63	1	0	0	0	0	0	0	0	1	11522	1045	37	1		1	PCDHA12	5	140256956	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	6246	140256956	40658304	547	45280											
PCDHA13	56136	broad.mit.edu	37	chr5	140261916	140261916	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctctggcttctgatcctCgcagcctgggagacgggtag	14	12	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140261916C>T	uc003lif.2	+	1	63	c.63C>T	c.(61-63)CTC>CTT	p.L21L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.L21L|PCDHA13_uc003lid.2_Silent_p.L21L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	21					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGATCCTCGCAGCCTGGG	0.592													T	140261916	C	T	140261916	2	4	63	1	0	0	0	0	0	0	0	1	11523	871	31	1		1	PCDHA13	5	140261916	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4960	140261916	40653344	548	45281											
PCDHA13	56136	broad.mit.edu	37	chr5	140263419	140263419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtgtacgcgctgcagccGttggaccacgaggagctgga	16	10	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140263419G>A	uc003lif.2	+	1	1566	c.1566G>A	c.(1564-1566)CCG>CCA	p.P522P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.P522P|PCDHA13_uc003lid.2_Silent_p.P522P	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	522	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCAGCCGTTGGACCACG	0.682													A	140263419	G	A	140263419	2	1	63	1	0	0	0	0	0	0	0	1	11523	1132	40	1		1	PCDHA13	5	140263419	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1503	140263419	40651841	549	45282											
PCDHAC1	56135	broad.mit.edu	37	chr5	140307012	140307012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgggatcgcgggttgacGgcagcgaatacccggagttg	16	9	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140307012G>A	uc003lih.2	+	1	711	c.535G>A	c.(535-537)GGC>AGC	p.G179S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.G179S	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	179	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGGTTGACGGCAGCGAATA	0.607													A	140307012	G	A	140307012	3	1	63	1	0	0	0	0	1	0	0	0	11532	1116	39	1	537	1	PCDHAC1	5	140307012	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	43593	140307012	40608248	550	45283											
PCDHAC2	56134	broad.mit.edu	37	chr5	140348078	140348078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggacatgaatgaccatgCccctcacattctgtacccta	8	13	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140348078C>T	uc003lii.2	+	1	1967	c.1727C>T	c.(1726-1728)GCC>GTC	p.A576V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.A576V	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	576	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGACCATGCCCCTCACATT	0.557													T	140348078	C	T	140348078	3	4	63	1	0	0	0	0	1	0	0	0	11533	739	26	2	1729	2	PCDHAC2	5	140348078	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	41066	140348078	40567182	551	45284											
PCDHAC2	56134	broad.mit.edu	37	chr5	140348558	140348558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtgctaccgctacactgCgtatggcactgcatgctgtg	11	12	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140348558C>T	uc003lii.2	+	1	2447	c.2207C>T	c.(2206-2208)GCG>GTG	p.A736V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.A736V	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	736	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTACACTGCGTATGGCACT	0.418													T	140348558	C	T	140348558	3	4	63	1	0	0	0	0	1	0	0	0	11533	768	27	1	2209	1	PCDHAC2	5	140348558	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	480	140348558	40566702	552	45285											
PCDHB3	56132	broad.mit.edu	37	chr5	140482079	140482079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacggagcccgggctgttcGgcgtgtgggcgcacaatggc	17	13	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140482079G>A	uc003lio.2	+	1	1846	c.1846G>A	c.(1846-1848)GGC>AGC	p.G616S	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	616	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGCTGTTCGGCGTGTGGGC	0.687													A	140482079	G	A	140482079	3	1	63	1	0	0	0	0	1	0	0	0	11543	1116	39	1	1848	1	PCDHB3	5	140482079	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	133521	140482079	40433181	553	45286											
PCDHB12	56124	broad.mit.edu	37	chr5	140590138	140590138	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcgtgctggtgctggaCgccaacgacaactcgccctt	13	14	0	0	rs139693592		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140590138C>T	uc003liz.2	+	1	1848	c.1659C>T	c.(1657-1659)GAC>GAT	p.D553D	PCDHB12_uc011dak.1_Silent_p.D216D	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	553	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCTGGACGCCAACGACA	0.706													T	140590138	C	T	140590138	2	4	63	1	0	0	0	0	0	0	0	1	11537	535	19	1		1	PCDHB12	5	140590138	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	108059	140590138	40325122	554	45287											
PCDHGA5	56110	broad.mit.edu	37	chr5	140745565	140745565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttgtgctggaccagaaCgacaatacgcctgagatcct	10	11	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140745565C>T	uc003lju.1	+	1	1668	c.1668C>T	c.(1666-1668)AAC>AAT	p.N556N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Silent_p.N556N	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	556	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCAGAACGACAATACGC	0.612													T	140745565	C	T	140745565	2	4	63	1	0	0	0	0	0	0	0	1	11557	535	19	1		1	PCDHGA5	5	140745565	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	155427	140745565	40169695	555	45288											
PCDHGB6	56100	broad.mit.edu	37	chr5	140787998	140787998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagaagctgcacttcagcGtagacgcggagagcggggac	17	10	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140787998G>A	uc003lkj.1	+	1	229	c.229G>A	c.(229-231)GTA>ATA	p.V77I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.V77I	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	77	Extracellular (Potential).|Cadherin 1.				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)			GCACTTCAGCGTAGACGCGGA	0.552													A	140787998	G	A	140787998	3	1	63	1	0	0	0	0	1	0	0	0	11567	1145	40	1	231	1	PCDHGB6	5	140787998	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	42433	140787998	40127262	556	45289											
PCDHGA10	56106	broad.mit.edu	37	chr5	140795118	140795118	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagagctgtgagaaaaaCgatcctttgtctttgttaga	11	6	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140795118C>T	uc003lkl.1	+	1	2376	c.2376C>T	c.(2374-2376)AAC>AAT	p.N792N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.N792N|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	792	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGAAAAACGATCCTTTGT	0.433													T	140795118	C	T	140795118	2	4	63	1	0	0	0	0	0	0	0	1	11551	535	19	1		1	PCDHGA10	5	140795118	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	7120	140795118	40120142	557	45290											
DIAPH1	1729	broad.mit.edu	37	chr5	140953109	140953109	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcttataaagcttttTgggggttaatccaaatggca	10	7	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140953109T>G	uc003llb.3	-	16	2449	c.2308A>C	c.(2308-2310)AAA>CAA	p.K770Q	DIAPH1_uc003llc.3_Missense_Mutation_p.K761Q|DIAPH1_uc010jgc.1_Missense_Mutation_p.K209Q	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	770	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAAGCTTTTTGGGGGTTAAT	0.478													G	140953109	T	G	140953109	3	3	63	1	0	0	0	0	1	0	0	0	4518	1821	63	5	1562	5	DIAPH1	5	140953109	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	157991	140953109	39962151	558	45291											
DIAPH1	1729	broad.mit.edu	37	chr5	140958108	140958108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgatgtagccccaaacGcatcagttcacttctgatgt	7	13	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140958108G>A	uc003llb.3	-	10	1159	c.1018C>T	c.(1018-1020)CGT>TGT	p.R340C	DIAPH1_uc003llc.3_Missense_Mutation_p.R331C	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	340	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCCAAACGCATCAGTTCA	0.448													A	140958108	G	A	140958108	3	1	63	1	0	0	0	0	1	0	0	0	4518	1087	38	1	2876	1	DIAPH1	5	140958108	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	4999	140958108	39957152	559	45292											
ARAP3	64411	broad.mit.edu	37	chr5	141044603	141044603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgcgcccccaatggctgCgttccatgccgtgaagtcca	11	16	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:141044603C>T	uc003llm.2	-	19	2764	c.2686G>A	c.(2686-2688)GCA>ACA	p.A896T	ARAP3_uc003lll.2_5'UTR|ARAP3_uc011dbe.1_Missense_Mutation_p.A558T|ARAP3_uc003lln.2_Missense_Mutation_p.A798T	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	896					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7						CCAATGGCTGCGTTCCATGCC	0.642											OREG0016871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	141044603	C	T	141044603	3	4	63	1	0	0	0	0	1	0	0	0	840	768	27	1	2008	1	ARAP3	5	141044603	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	86495	141044603	39870657	560	45293											
CSF1R	1436	broad.mit.edu	37	chr5	149449476	149449476	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaggagccactccccacGctgttgtgggccctgcactc	11	18	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:149449476G>A	uc003lrl.2	-	9	1665	c.1470C>T	c.(1468-1470)AGC>AGT	p.S490S	CSF1R_uc011dcd.1_Silent_p.S342S|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Silent_p.S490S	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	490	Ig-like C2-type 5.|Extracellular (Potential).				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CACTCCCCACGCTGTTGTGGG	0.448													A	149449476	G	A	149449476	2	1	63	1	0	0	0	0	0	0	0	1	3932	1078	38	1		1	CSF1R	5	149449476	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	8404873	149449476	31465784	561	45294											
FAT2	2196	broad.mit.edu	37	chr5	150911530	150911530	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaccacctgggcattggcGcctggcagggagaccaaggg	15	11	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:150911530G>A	uc003lue.3	-	13	9442	c.9429C>T	c.(9427-9429)GGC>GGT	p.G3143G	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_5'UTR	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3143	Extracellular (Potential).|Cadherin 28.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCATTGGCGCCTGGCAGGG	0.652													A	150911530	G	A	150911530	2	1	63	1	0	0	0	0	0	0	0	1	5690	1101	38	1		1	FAT2	5	150911530	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1462054	150911530	30003730	562	45295											
GRIA1	2890	broad.mit.edu	37	chr5	152873616	152873616	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgacagctttgagatgAcctatagatgtaagtaattg	10	6	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:152873616A>G	uc003lva.3	+	2	576	c.211A>G	c.(211-213)ACC>GCC	p.T71A	GRIA1_uc003luy.3_Missense_Mutation_p.T71A|GRIA1_uc003luz.3_5'UTR|GRIA1_uc011dcv.1_Intron|GRIA1_uc011dcw.1_Missense_Mutation_p.T71A|GRIA1_uc011dcx.1_Missense_Mutation_p.T2A|GRIA1_uc011dcy.1_Missense_Mutation_p.T81A|GRIA1_uc011dcz.1_Missense_Mutation_p.T81A|GRIA1_uc010jia.1_Missense_Mutation_p.T51A	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	71	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTTGAGATGACCTATAGATG	0.463													G	152873616	A	G	152873616	3	3	63	1	0	0	0	0	1	0	0	0	6767	275	10	3	217	3	GRIA1	5	152873616	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	1962086	152873616	28041644	563	45296											
GALNT10	55568	broad.mit.edu	37	chr5	153760175	153760175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaactgcagaaagctgacCccagcgacccatttgagtaa	9	12	0	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:153760175C>T	uc003lvh.2	+	6	1054	c.922C>T	c.(922-924)CCC>TCC	p.P308S	GALNT10_uc003lvg.1_Missense_Mutation_p.P308S|GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Missense_Mutation_p.P149S	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	308	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GAAAGCTGACCCCAGCGACCC	0.577													T	153760175	C	T	153760175	3	4	63	1	0	0	0	0	1	0	0	0	6208	623	22	4	944	4	GALNT10	5	153760175	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	886559	153760175	27155085	564	45297											
LARP1	23367	broad.mit.edu	37	chr5	154173390	154173391	+	Frame_Shift_Ins	INS	-	-	C													gccacctacgtgcccgtggcINScccccccaccccagcctggc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:154173389_154173390G>GC	uc003lvo.3	+	5	691_692	c.667_668G>GC	c.(667-669)gccfs	p.A223fs	LARP1_uc021ygh.1_Frame_Shift_Ins_p.A95fs|LARP1_uc021ygi.1_Frame_Shift_Ins_p.A300fs|LARP1_uc010jie.1_Frame_Shift_Ins_p.A95fs	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	300							RNA binding|protein binding	p.T303fs*19(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGTGCCCGTGGCCCCCCCCACC	0.644													C	154173391	-	C	154173390	7	5	63	1	0	1	1	0	0	0	0	0	8628	739	26	0	690	0	LARP1	5	154173390	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	413215	154173390	26741870	565	45298											
LARP1	23367	broad.mit.edu	37	chr5	154181822	154181822	+	Frame_Shift_Del	DEL	G	G	-													attacatgcgccggcacccaGggggggaccgcacaggcaac							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:154181821_154181821AG>A	uc003lvo.3	+	10	1764	c.1740_1740AG>A	c.(1738-1740)ccafs	p.P580fs	LARP1_uc021ygh.1_Frame_Shift_Del_p.P452fs|LARP1_uc021ygi.1_Frame_Shift_Del_p.P657fs|LARP1_uc010jie.1_Frame_Shift_Del_p.P452fs	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	657							RNA binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCGGCACCCAGGGGGGGACC	0.547													-	154181822	G	-	154181822	7	5	63	1	0	1	0	1	0	0	0	0	8628	1000	35	0	1783	0	LARP1	5	154181822	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	8432	154181822	26733438	566	45299											
GEMIN5	25929	broad.mit.edu	37	chr5	154304058	154304058	+	Frame_Shift_Del	DEL	T	T	-													taggtgtcatacaatcccacTtttccatcatcagttccaaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:154304058delT	uc003lvx.3	-	9	1433	c.1350delA	c.(1348-1350)AAAfs	p.K450fs	GEMIN5_uc011ddk.1_Frame_Shift_Del_p.K449fs	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	450	WD 8.				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACAATCCCACTTTTCCATCAT	0.313													-	154304058	T	-	154304058	7	5	63	1	0	1	0	1	0	0	0	0	6331	1606	56	0	3256	0	GEMIN5	5	154304058	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	122236	154304058	26611202	567	45300											
KIF4B	285643	broad.mit.edu	37	chr5	154394713	154394713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgaatgaaaaactgaacGccaagctagaagagctcagg	11	7	1	5			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:154394713G>A	uc010jih.1	+	1	1454	c.1294G>A	c.(1294-1296)GCC>ACC	p.A432T		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	432	Potential.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAACTGAACGCCAAGCTAGA	0.448													A	154394713	G	A	154394713	3	1	63	1	0	0	0	0	1	0	0	0	8304	1087	38	1	1296	1	KIF4B	5	154394713	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	90655	154394713	26520547	568	45301											
KIF4B	285643	broad.mit.edu	37	chr5	154396039	154396039	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaatatttgattggagagCtggtctcctccaaaatacat	8	7	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:154396039C>T	uc010jih.1	+	1	2780	c.2620C>T	c.(2620-2622)CTG>TTG	p.L874L		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	874	Interaction with PRC1 (By similarity).|Potential.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GATTGGAGAGCTGGTCTCCTC	0.458													T	154396039	C	T	154396039	2	4	63	1	0	0	0	0	0	0	0	1	8304	796	28	2		2	KIF4B	5	154396039	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1326	154396039	26519221	569	45302											
SOX30	11063	broad.mit.edu	37	chr5	157078494	157078494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggcttttgcctgccccgCcttgcatcgagtctctcatg	10	16	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:157078494C>T	uc003lxb.1	-	1	935	c.593G>A	c.(592-594)GGC>GAC	p.G198D	SOX30_uc003lxc.1_Missense_Mutation_p.G198D|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	198					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCTGCCCCGCCTTGCATCGA	0.662													T	157078494	C	T	157078494	3	4	63	1	0	0	0	0	1	0	0	0	14952	739	26	2	1688	2	SOX30	5	157078494	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2682455	157078494	23836766	570	45303											
ODZ2	57451	broad.mit.edu	37	chr5	167674064	167674064	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacagtaccgccgtcaccttCgggtatgacgagaccactgg	12	13	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:167674064C>T	uc010jjd.2	+	27	6093	c.6093C>T	c.(6091-6093)TTC>TTT	p.F2031F	ODZ2_uc003lzr.3_Silent_p.F1801F|ODZ2_uc003lzt.3_Silent_p.F1404F|ODZ2_uc010jje.2_Silent_p.F1295F	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CCGTCACCTTCGGGTATGACG	0.537													T	167674064	C	T	167674064	2	4	63	1	0	0	0	0	0	0	0	1	10835	883	31	1		1	ODZ2	5	167674064	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	10595570	167674064	13241196	571	45304											
RARS	5917	broad.mit.edu	37	chr5	167929052	167929052	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgtctctttaatagagagAggggaatccttctatcaaga	10	7	3	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:167929052A>G	uc003lzx.2	+	9	1040	c.999A>G	c.(997-999)AGA>AGG	p.R333R	RARS_uc011deo.1_Silent_p.R127R	NM_002887	NP_002878	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	333					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|skin(1)	3	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TAATAGAGAGAGGGGAATCCT	0.274													G	167929052	A	G	167929052	2	3	63	1	0	0	0	0	0	0	0	1	13058	301	11	3		3	RARS	5	167929052	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	254988	167929052	12986208	572	45305											
GPRIN1	114787	broad.mit.edu	37	chr5	176025652	176025652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctgtctttgctgaagccGtagtatccgtgtggccagac	12	10	2	2	rs146734819		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:176025652G>A	uc003meo.1	-	2	1359	c.1184C>T	c.(1183-1185)ACG>ATG	p.T395M		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	395						growth cone|plasma membrane				ovary(2)	2	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTGAAGCCGTAGTATCCGT	0.537													A	176025652	G	A	176025652	3	1	63	1	0	0	0	0	1	0	0	0	6729	1145	40	1	1846	1	GPRIN1	5	176025652	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	8096600	176025652	4889608	573	45306											
PRR7	80758	broad.mit.edu	37	chr5	176882272	176882272	+	Frame_Shift_Del	DEL	C	C	-													gagggcagtctggccgggagCcccccgggcctggcgccgcc					rs17852209		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:176882272delC	uc003mgu.1	+	3	696	c.204delC	c.(202-204)AGTfs	p.S68fs	PRR7_uc003mgv.1_Frame_Shift_Del_p.S68fs|PRR7_uc003mgw.1_Frame_Shift_Del_p.S68fs	NM_030567	NP_085044	Q8TB68	PRR7_HUMAN	proline rich 7 (synaptic)	68	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane					0	all_cancers(89;1.51e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCCGGGAGCCCCCCGGGCC	0.607													-	176882272	C	-	176882272	7	5	63	1	0	1	0	1	0	0	0	0	12603	738	26	0	206	0	PRR7	5	176882272	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	856620	176882272	4032988	574	45307											
RMND5B	64777	broad.mit.edu	37	chr5	177574760	177574760	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactaggcatgaagtgctggTaccactccgtgttcgcttgc	11	11	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:177574760T>C	uc003mim.2	+	10	1174	c.994T>C	c.(994-996)TAC>CAC	p.Y332H	RMND5B_uc003min.2_Missense_Mutation_p.Y332H|RMND5B_uc003mio.2_Missense_Mutation_p.Y319H|RMND5B_uc003mip.2_Missense_Mutation_p.Y332H|RMND5B_uc011dgf.1_Missense_Mutation_p.Y373H|RMND5B_uc003miq.2_Missense_Mutation_p.Y272H	NM_022762	NP_073599	Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog	332										ovary(1)|skin(1)	2	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGTGCTGGTACCACTCCGT	0.562													C	177574760	T	C	177574760	3	2	63	1	0	0	0	0	1	0	0	0	13398	1638	57	3	1024	3	RMND5B	5	177574760	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	692488	177574760	3340500	575	45308											
HNRNPAB	3182	broad.mit.edu	37	chr5	177637177	177637194	+	In_Frame_Del	DEL	CAGGGCTACGGCTACCAG	CAGGGCTACGGCTACCAG	-													gctacggcaactactggaacCagggctacggctaccagcag							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:177637176_177637193CCAGGGCTACGGCTACCAG>C	uc003miu.3	+	6	1088_1105	c.831_848CCAGGGCTACGGCTACCAG>C	c.(829-849)aaccagggctacggctaccag>aaCg	p.QGYGYQ278del	HNRNPAB_uc003miv.3_Intron|HNRNPAB_uc003mix.3_Intron|AGXT2L2_uc003miy.3_Intron|AGXT2L2_uc003mjc.3_Intron|AGXT2L2_uc003mjb.3_Intron|AGXT2L2_uc003miz.3_Intron|AGXT2L2_uc003mja.3_Intron	NM_031266	NP_112556	Q99729	ROAA_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A/B (HNRNPAB), transcript variant 1, mRNA.	278	Gly-rich.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			large_intestine(4)|prostate(1)|urinary_tract(1)	6						ACTACTGGAACCAGGGCTACGGCTACCAGCAGGGCTAC	0.61													-	177637194	CAGGGCTACGGCTACCAG	-	177637177	7	5	63	1	0	1	0	1	0	0	0	0	7261	595	21	0	854	0	HNRNPAB	5	177637177	In_Frame_Del	DEL	CAGGGCTACGGCTACCAG	TCGA-BR-8078-01A-11D-2340-08	62417	177637177	3278083	576	45309											
TBC1D9B	23061	broad.mit.edu	37	chr5	179318408	179318408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtatgatgaggtggcaagCgtcctcctccttgctggcga	15	10	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:179318408C>T	uc003mlh.2	-	6	1052	c.1015G>A	c.(1015-1017)GCT>ACT	p.A339T	TBC1D9B_uc003mli.2_Missense_Mutation_p.A339T|TBC1D9B_uc003mlj.2_Missense_Mutation_p.A339T	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	339	GRAM 2.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGTGGCAAGCGTCCTCCTCC	0.592													T	179318408	C	T	179318408	3	4	63	1	0	0	0	0	1	0	0	0	15625	768	27	1	2805	1	TBC1D9B	5	179318408	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1681231	179318408	1596852	577	45310											
FLT4	2324	broad.mit.edu	37	chr5	180048658	180048658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggatactcaggctgagcGtggcgtggcgcgccccaggt	19	11	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:180048658G>A	uc003mma.3	-	13	1983	c.1904C>T	c.(1903-1905)ACG>ATG	p.T635M	FLT4_uc003mlz.3_Missense_Mutation_p.T635M|FLT4_uc003mmb.1_Missense_Mutation_p.T168M|FLT4_uc011dgy.1_Missense_Mutation_p.T635M	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	635	Ig-like C2-type 6.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CAGGCTGAGCGTGGCGTGGCG	0.667									Congenital_Hereditary_Lymphedema				A	180048658	G	A	180048658	3	1	63	1	0	0	0	0	1	0	0	0	5944	1145	40	1	2267	1	FLT4	5	180048658	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	730250	180048658	866602	578	45311											
FLT4	2324	broad.mit.edu	37	chr5	180058748	180058748	+	Frame_Shift_Del	DEL	G	G	-													cctccgtgatgttcaaggtcGggggggtcatggagtagcca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:180058747_180058747CG>C	uc003mlz.4	-	1	169	c.90_90CG>G	c.(88-90)ccgfs	p.P30fs	FLT4_uc003mma.4_Frame_Shift_Del_p.P30fs|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.2_Frame_Shift_Del_p.P30fs|FLT4_uc011dgz.1_Frame_Shift_Del_p.P30fs|FLT4_uc011dha.1_Frame_Shift_Del_p.P30fs	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	30	Ig-like C2-type 1.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.P30fs*3(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGTTCAAGGTCGGGGGGGTCA	0.632													-	180058748	G	-	180058748	7	5	63	1	0	1	0	1	0	0	0	0	5944	1116	39	0	4126	0	FLT4	5	180058748	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	10090	180058748	856512	579	45312											
TRIM7	81786	broad.mit.edu	37	chr5	180622403	180622403	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccgttgagctgcagggcCcagacgccctcctcgggagt	14	16	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:180622403C>T	uc003mmz.1	-	7	1366	c.1299G>A	c.(1297-1299)TGG>TGA	p.W433*	TRIM7_uc003mmv.1_Nonsense_Mutation_p.W251*|TRIM7_uc003mmw.1_Nonsense_Mutation_p.W225*|TRIM7_uc003mmx.1_Nonsense_Mutation_p.W225*|TRIM7_uc003mmy.1_Nonsense_Mutation_p.W225*	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	433	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		GCTGCAGGGCCCAGACGCCCT	0.731													T	180622403	C	T	180622403	4	4	63	1	0	0	0	0	0	1	0	0	16540	624	22	4	240	4	TRIM7	5	180622403	Nonsense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	563655	180622403	292857	580	45313											
FOXQ1	94234	broad.mit.edu	37	chr6	1313297	1313297	+	Frame_Shift_Del	DEL	C	C	-													catatacgcggcggcccaagCccccctactcgtacatcgcg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:1313297delC	uc003mtl.3	+	1	623	c.358delC	c.(358-360)CCCfs	p.P120fs		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	forkhead box Q1	120	Fork-head.				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding				0	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GCGGCCCAAGCCCCCCTACTC	0.433													-	1313297	C	-	1313297	7	5	63	1	0	1	0	1	0	0	0	0	6030	739	26	0	360	0	FOXQ1	6	1313297	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08		1313297	169801770	581	45314											
FOXQ1	94234	broad.mit.edu	37	chr6	1313402	1313402	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctcatgggcaagttccccTttttccgcggcagctacacg	9	15	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:1313402T>C	uc003mtl.3	+	1	728	c.463T>C	c.(463-465)TTT>CTT	p.F155L		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	forkhead box Q1	155	Fork-head.				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding				0	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		CAAGTTCCCCTTTTTCCGCGG	0.652													C	1313402	T	C	1313402	3	2	63	1	0	0	0	0	1	0	0	0	6030	1609	56	3	465	3	FOXQ1	6	1313402	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	105	1313402	169801665	582	45315											
NRN1	51299	broad.mit.edu	37	chr6	6002702	6002702	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaccgcatcgcacttgccCgctgctctcacggcctgcac	9	18	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:6002702C>T	uc003mwu.2	-	2	735	c.84G>A	c.(82-84)GCG>GCA	p.A28A	NRN1_uc003mwt.2_Silent_p.A54A	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN	neuritin precursor	28						anchored to membrane|plasma membrane					0	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		CGCACTTGCCCGCTGCTCTCA	0.652													T	6002702	C	T	6002702	2	4	63	1	0	0	0	0	0	0	0	1	10658	639	23	1		1	NRN1	6	6002702	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4689300	6002702	165112365	583	45316											
RREB1	6239	broad.mit.edu	37	chr6	7229265	7229265	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctgcggaggtgcatcagCgagcaacaccgttttgtctg	12	11	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:7229265C>T	uc003mxc.2	+	10	1323	c.933C>T	c.(931-933)AGC>AGT	p.S311S	RREB1_uc003mxb.2_Silent_p.S311S|RREB1_uc010jnx.2_Silent_p.S311S	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	311					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGTGCATCAGCGAGCAACACC	0.522													T	7229265	C	T	7229265	2	4	63	1	0	0	0	0	0	0	0	1	13679	767	27	1		1	RREB1	6	7229265	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1226563	7229265	163885802	584	45317											
BMP6	654	broad.mit.edu	37	chr6	7727469	7727469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggctcccgcaccggccccGgcccctgcacggcctccaac	12	22	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:7727469G>A	uc003mxu.3	+	1	459	c.281G>A	c.(280-282)CGG>CAG	p.R94Q		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	94					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					CACCGGCCCCGGCCCCTGCAC	0.612													A	7727469	G	A	7727469	3	1	63	1	0	0	0	0	1	0	0	0	1464	1116	39	1	283	1	BMP6	6	7727469	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	498204	7727469	163387598	585	45318											
BMP6	654	broad.mit.edu	37	chr6	7727519	7727519	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccccggcgctccggcagcagGaggagcagcagcagcagcag	16	15	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:7727519G>C	uc003mxu.3	+	1	509	c.331G>C	c.(331-333)GAG>CAG	p.E111Q		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	111					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					CCGgcagcaggaggagcagca	0.597													C	7727519	G	C	7727519	3	2	63	1	0	0	0	0	1	0	0	0	1464	1175	41	5	333	5	BMP6	6	7727519	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	50	7727519	163387548	586	45319											
HIVEP1	3096	broad.mit.edu	37	chr6	12122840	12122840	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagccatgtcagtgaggagcAaggcactggcacaaggccca	13	11	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:12122840A>G	uc003nac.2	+	4	2991	c.2812A>G	c.(2812-2814)AAG>GAG	p.K938E	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	938					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGTGAGGAGCAAGGCACTGGC	0.473													G	12122840	A	G	12122840	3	3	63	1	0	0	0	0	1	0	0	0	7186	131	5	3	2822	3	HIVEP1	6	12122840	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	4395321	12122840	158992227	587	45320											
JARID2	3720	broad.mit.edu	37	chr6	15496722	15496722	+	Frame_Shift_Del	DEL	G	G	-													aagtcatgcactaaggaggtGggggggcggcagctgcggga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:15496721_15496721TG>T	uc003nbj.3	+	6	1509	c.1265_1265TG>T	c.(1264-1266)gtgfs	p.V422fs	JARID2_uc011diu.1_Frame_Shift_Del_p.V286fs|JARID2_uc011div.2_Frame_Shift_Del_p.V250fs|JARID2_uc011diw.1_Frame_Shift_Del_p.V384fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	422					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ACTAAGGAGGTGGGGGGGCGG	0.667													-	15496722	G	-	15496722	7	5	63	1	0	1	0	1	0	0	0	0	7945	1335	47	0	1292	0	JARID2	6	15496722	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	3373882	15496722	155618345	588	45321											
GMPR	2766	broad.mit.edu	37	chr6	16290717	16290717	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagcagattttgtcatgcTgggaggaatgttttcgggtc	15	5	1	1	rs143277148	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:16290717T>C	uc003nbs.2	+	8	836	c.722T>C	c.(721-723)CTG>CCG	p.L241P		NM_006877	NP_006868	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	241					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			ovary(1)	1	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				TTTGTCATGCTGGGAGGAATG	0.517													C	16290717	T	C	16290717	3	2	63	1	0	0	0	0	1	0	0	0	6496	1580	55	3	752	3	GMPR	6	16290717	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	793995	16290717	154824350	589	45322											
NHLRC1	378884	broad.mit.edu	37	chr6	18122226	18122226	+	Frame_Shift_Del	DEL	A	A	-													atgacaagcttgatctggccAaaaaaatcaaacactttgat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:18122225_18122225CA>C	uc003ncl.1	-	0	627	c.613_613TG>G	c.(613-615)ggcfs	p.G205fs		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	Homo sapiens NHL repeat containing 1 (NHLRC1), mRNA.	205					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			TTGATCTGGCCAAAAAAATCA	0.522													-	18122226	A	-	18122226	7	5	63	1	0	1	0	1	0	0	0	0	10405	127	5	0	579	0	NHLRC1	6	18122226	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	1831509	18122226	152992841	590	45323											
KAAG1	353219	broad.mit.edu	37	chr6	24358032	24358032	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcgtcgggaggcacctccGctgtcccagcggcctcaccg	13	18	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:24358032G>A	uc003ndz.1	+	1	902	c.165G>A	c.(163-165)CCG>CCA	p.P55P	DCDC2_uc003ndx.2_5'UTR|DCDC2_uc003ndy.2_5'UTR	NM_181337	NP_851854	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	55					immune response						0						AGGCACCTCCGCTGTCCCAGC	0.672													A	24358032	G	A	24358032	2	1	63	1	0	0	0	0	0	0	0	1	7973	1074	38	1		1	KAAG1	6	24358032	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	6235806	24358032	146757035	591	45324											
LRRC16A	55604	broad.mit.edu	37	chr6	25600967	25600967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaagagagctgcgtgtgCgcagaaggtaagggtggacc	18	6	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:25600967C>T	uc011djw.1	+	33	3921	c.3545C>T	c.(3544-3546)GCG>GTG	p.A1182V	LRRC16A_uc010jpx.2_Intron|LRRC16A_uc010jpy.2_Missense_Mutation_p.A1182V	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1182					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						GCTGCGTGTGCGCAGAAGGTA	0.373													T	25600967	C	T	25600967	3	4	63	1	0	0	0	0	1	0	0	0	8971	768	27	1	3675	1	LRRC16A	6	25600967	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1242935	25600967	145514100	592	45325											
SLC17A3	10786	broad.mit.edu	37	chr6	25851024	25851024	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atatgatgtattctttttctGaggtgcttatccatggatag	9	5	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:25851024G>T	uc003nfi.3	-	6	670	c.560C>A	c.(559-561)TCA>TAA	p.S187*	SLC17A3_uc003nfk.3_Nonsense_Mutation_p.S265*|SLC17A3_uc011djz.1_Nonsense_Mutation_p.S265*|SLC17A3_uc011dka.1_Nonsense_Mutation_p.S187*	NM_006632	NP_006623	O00476	NPT4_HUMAN	solute carrier family 17 (sodium phosphate),	187					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity				0						TTCTTTTTCTGAGGTGCTTAT	0.413													T	25851024	G	T	25851024	4	4	63	1	0	0	0	0	0	1	0	0	14418	1294	45	5	726	5	SLC17A3	6	25851024	Nonsense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	250057	25851024	145264043	593	45326											
HIST1H1T	3010	broad.mit.edu	37	chr6	26108175	26108175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgacactgaaagggcctcGgtgatcaacttggacacaga	12	9	1	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:26108175G>A	uc003ngj.2	-	1	190	c.147C>T	c.(145-147)ACC>ACT	p.T49T		NM_005323	NP_005314	P22492	H1T_HUMAN	histone cluster 1, H1t	49	H15.				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			ovary(2)	2						AAAGGGCCTCGGTGATCAACT	0.527													A	26108175	G	A	26108175	2	1	63	1	0	0	0	0	0	0	0	1	7127	1103	39	1		1	HIST1H1T	6	26108175	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	257151	26108175	145006892	594	45327											
HIST1H2BC	8347	broad.mit.edu	37	chr6	26124113	26124113	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccttcttcggggcgggagcaGacttggctggctcaggcatc	15	12	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:26124113G>A	uc003ngk.3	-	1	42	c.20C>T	c.(19-21)TCT>TTT	p.S7F	HIST1H2BC_uc003ngl.2_Missense_Mutation_p.S7F|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank	NM_003526	NP_003517	P62807	H2B1C_HUMAN	histone cluster 1, H2bc	7					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1						GGCGGGAGCAGACTTGGCTGG	0.507													A	26124113	G	A	26124113	3	1	63	1	0	0	0	0	1	0	0	0	7142	942	33	4	364	4	HIST1H2BC	6	26124113	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	15938	26124113	144990954	595	45328											
ZSCAN16	80345	broad.mit.edu	37	chr6	28097417	28097417	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaatgtgggaaaagtttcAgtcatagctcagaccttagt	10	6	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:28097417A>G	uc003nkm.2	+	4	836	c.736A>G	c.(736-738)AGT>GGT	p.S246G	uc010jqw.1_Intron|uc003nkk.1_Intron|uc003nkl.1_Intron	NM_025231	NP_079507	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	246	C2H2-type 1.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1						GAAAAGTTTCAGTCATAGCTC	0.418													G	28097417	A	G	28097417	3	3	63	1	0	0	0	0	1	0	0	0	18226	188	7	3	746	3	ZSCAN16	6	28097417	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	1973304	28097417	143017650	596	45329											
OR5V1	81696	broad.mit.edu	37	chr6	29323493	29323494	+	Frame_Shift_Del	DEL	TG	TG	-													ggcaggcagaatgtcaacacTgtatgcaccactgagttaag					rs140274749	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:29323493_29323494delTG	uc011dlo.1	-	1	561_562	c.479_480delCA	c.(478-480)ACAfs	p.T160fs		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V,	160	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|kidney(1)	4						ATGTCAACACTGTATGCACCAC	0.441													-	29323494	TG	-	29323493	7	5	63	1	0	1	0	1	0	0	0	0	11184	1567	55	0	488	0	OR5V1	6	29323493	Frame_Shift_Del	DEL	TG	TCGA-BR-8078-01A-11D-2340-08	1226076	29323493	141791574	597	45330											
OR12D3	81797	broad.mit.edu	37	chr6	29342456	29342456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaagctcccatggatatGctgcctgtgacaatggaaag	11	8	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:29342456G>A	uc003nme.2	-	1	613	c.609C>T	c.(607-609)AGC>AGT	p.S203S		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D,	203	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3						CCATGGATATGCTGCCTGTGA	0.438													A	29342456	G	A	29342456	2	1	63	1	0	0	0	0	0	0	0	1	10932	1310	46	2		2	OR12D3	6	29342456	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	18963	29342456	141772611	598	45331											
OR12D3	81797	broad.mit.edu	37	chr6	29342488	29342488	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggaaagaagccattgatTgagtaatgtgtcactacagg	11	5	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:29342488T>C	uc003nme.2	-	1	581	c.577A>G	c.(577-579)AAT>GAT	p.N193D		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D,	193	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3						AGCCATTGATTGAGTAATGTG	0.433													C	29342488	T	C	29342488	3	2	63	1	0	0	0	0	1	0	0	0	10932	1812	63	3	377	3	OR12D3	6	29342488	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	32	29342488	141772579	599	45332											
OR2H2	7932	broad.mit.edu	37	chr6	29555792	29555793	+	Frame_Shift_Del	DEL	CT	CT	-													acacccagggctggaaaggaCtctcttcgtggttgtcctca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:29555791_29555792ACT>A	uc003nmr.1	+	0	109_110	c.70_71ACT>A	c.(70-72)actfs	p.T24fs	GABBR1_uc003nmp.4_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA.	24					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GCTGGAAAGGACTCTCTTCGTG	0.55													-	29555793	CT	-	29555792	7	5	63	1	0	1	0	1	0	0	0	0	11002	565	20	0	73	0	OR2H2	6	29555792	Frame_Shift_Del	DEL	CT	TCGA-BR-8078-01A-11D-2340-08	213304	29555792	141559275	600	45333											
GABBR1	2550	broad.mit.edu	37	chr6	29574229	29574229	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggcagaatagagacgtcAatatcttccttaggttcctc	10	9	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:29574229A>G	uc003nmt.3	-	19	2586	c.2250T>C	c.(2248-2250)ATT>ATC	p.I750I	GABBR1_uc003nmp.3_Silent_p.I633I|GABBR1_uc003nms.3_Silent_p.I633I|GABBR1_uc003nmu.3_Silent_p.I688I|GABBR1_uc011dlr.1_Silent_p.I573I	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	750	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	TAGAGACGTCAATATCTTCCT	0.522													G	29574229	A	G	29574229	2	3	63	1	0	0	0	0	0	0	0	1	6155	126	5	3		3	GABBR1	6	29574229	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	18437	29574229	141540838	601	45334											
HLA-F	3134	broad.mit.edu	37	chr6	29691261	29691261	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	atggcgccccgaagcctcctCctgctgctctcaggggccct	11	18	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:29691261C>G	uc010jrl.2	+	1	145	c.21C>G	c.(19-21)CTC>CTG	p.L7L	HLA-F_uc003nnm.3_Silent_p.L7L|HLA-F_uc003nno.3_Silent_p.L7L|HLA-F_uc011dlx.1_Silent_p.L7L|HLA-F_uc011dly.1_5'Flank	NM_018950	NP_061823	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	7					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						GAAGCCTCCTCCTGCTGCTCT	0.667													G	29691261	C	G	29691261	2	3	63	1	0	0	0	0	0	0	0	1	7211	842	30	5		5	HLA-F	6	29691261	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	117032	29691261	141423806	602	45335											
HLA-F	3134	broad.mit.edu	37	chr6	29692211	29692211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggagaatgggaaggagaCgctacagcgcgcaggtacca	15	9	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:29692211C>T	uc010jrl.2	+	3	720	c.596C>T	c.(595-597)ACG>ATG	p.T199M	HLA-F_uc003nnm.3_Missense_Mutation_p.T199M|HLA-F_uc003nno.3_Missense_Mutation_p.T199M|HLA-F_uc011dlx.1_Missense_Mutation_p.T199M|HLA-F_uc011dly.1_RNA	NM_018950	NP_061823	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	199	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						GGGAAGGAGACGCTACAGCGC	0.577													T	29692211	C	T	29692211	3	4	63	1	0	0	0	0	1	0	0	0	7211	536	19	1	606	1	HLA-F	6	29692211	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	950	29692211	141422856	603	45336											
HLA-A	3105	broad.mit.edu	37	chr6	29911900	29911900	+	Splice_Site	DEL	C	C	-													ttctgactcttcccgtcagaCccccccaagacacatatgac					rs75368153		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:29911899_29911899AC>A	uc003nol.3	+	4	704	c.620_splice	c.e4-1	p.D207_splice	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_5'Flank|HLA-A_uc021ytz.1_Splice_Site_p.D207_splice|HLA-A_uc010jrq.3_Splice_Site_p.D86_splice|HLA-A_uc003nok.3_Splice_Site_p.D86_splice|HLA-A_uc010klp.2_Splice_Site_p.D179_splice|HLA-A_uc011dmc.2_Splice_Site_p.D86_splice|HLA-A_uc011dmd.2_Splice_Site_p.D86_splice|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	207	Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TTCCCGTCAGACCCCCCCAAG	0.577									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			-	29911900	C	-	29911900	8	5	63	1	0	1	0	1	0	0	1	0	7195	521	18	0	635	0	HLA-A	6	29911900	Splice_Site	DEL	C	TCGA-BR-8078-01A-11D-2340-08	219689	29911900	141203167	604	45337											
HLA-E	3133	broad.mit.edu	37	chr6	30459139	30459139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagaggagcagagatacaCgtgccatgtgcagcatgagg	16	7	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:30459139C>T	uc003nqg.2	+	4	874	c.836C>T	c.(835-837)ACG>ATG	p.T279M	HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Missense_Mutation_p.T320M	NM_005516	NP_005507	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	279	Ig-like C1-type.|Alpha-3.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(4)|ovary(1)	5						CAGAGATACACGTGCCATGTG	0.617													T	30459139	C	T	30459139	3	4	63	1	0	0	0	0	1	0	0	0	7210	536	19	1	850	1	HLA-E	6	30459139	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	547239	30459139	140655928	605	45338											
TCF19	6941	broad.mit.edu	37	chr6	31127312	31127312	+	Frame_Shift_Del	DEL	C	C	-													ggtgatctctacaccttccaCccccccgccggggctggctg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:31127312delC	uc003nss.2	+	2	590	c.66delC	c.(64-66)CACfs	p.H22fs	CCHCR1_uc011dne.1_5'Flank|CCHCR1_uc003nsq.3_5'Flank|CCHCR1_uc003nsp.3_5'Flank|CCHCR1_uc003nsr.3_5'Flank|CCHCR1_uc010jsk.1_5'Flank|TCF19_uc003nst.2_Frame_Shift_Del_p.H22fs	NM_001077511	NP_001070979	Q9Y242	TCF19_HUMAN	transcription factor 19	22					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ACACCTTCCACCCCCCCGCCG	0.687													-	31127312	C	-	31127312	7	5	63	1	0	1	0	1	0	0	0	0	15686	506	18	0	68	0	TCF19	6	31127312	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	668173	31127312	139987755	606	45339											
HLA-C	3107	broad.mit.edu	37	chr6	31239468	31239468	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttctgtgtctcccggtccCaatactccggcccctcctgc	7	19	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:31239468C>T	uc003nsy.2	-	2	258	c.251G>A	c.(250-252)TGG>TAG	p.W84*	HLA-C_uc011dnj.1_Nonsense_Mutation_p.W56*|HLA-C_uc003nsx.2_5'UTR|HLA-C_uc003nsz.2_Nonsense_Mutation_p.W84*|HLA-C_uc010jsl.2_Nonsense_Mutation_p.W84*|HLA-C_uc003nta.2_Nonsense_Mutation_p.W84*|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_5'UTR|HLA-B_uc003ntf.2_Intron	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	84	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex					0						CTCCCGGTCCCAATACTCCGG	0.667													T	31239468	C	T	31239468	4	4	63	1	0	0	0	0	0	1	0	0	7197	595	21	4	877	4	HLA-C	6	31239468	Nonsense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	112156	31239468	139875599	607	45340											
HLA-B	3106	broad.mit.edu	37	chr6	31323266	31323266	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcctcgccatcccgctgCcaggtcagtgtgatctccgc	11	16	2	1	rs41553818		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:31323266C>T	uc003nth.2	-	4	777	c.723G>A	c.(721-723)TGG>TGA	p.W241*	HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_RNA|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Nonsense_Mutation_p.W120*|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	241	Alpha-3.|Ig-like C1-type.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0						CATCCCGCTGCCAGGTCAGTG	0.602									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				T	31323266	C	T	31323266	4	4	63	1	0	0	0	0	0	1	0	0	7196	740	26	2	381	2	HLA-B	6	31323266	Nonsense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	83798	31323266	139791801	608	45341											
MICB	4277	broad.mit.edu	37	chr6	31474138	31474138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccaagacacactatcgcGctatgcaggcagactgcctg	10	13	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:31474138G>A	uc003ntn.3	+	3	660	c.544G>A	c.(544-546)GCT>ACT	p.A182T	MICB_uc011dnm.1_Missense_Mutation_p.A150T|MICB_uc003nto.3_Missense_Mutation_p.A139T	NM_005931	NP_005922	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	182	Extracellular (Potential).				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding				0						ACACTATCGCGCTATGCAGGC	0.537													A	31474138	G	A	31474138	3	1	63	1	0	0	0	0	1	0	0	0	9575	1087	38	1	554	1	MICB	6	31474138	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	150872	31474138	139640929	609	45342											
NEU1	4758	broad.mit.edu	37	chr6	31829063	31829063	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaccatcatccttgctccAtaccaacatggtagaggcca	6	14	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:31829063A>G	uc003nxq.3	-	3	673	c.517T>C	c.(517-519)TGG>CGG	p.W173R	NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_RNA|NEU1_uc010jth.2_Missense_Mutation_p.W4R|NEU1_uc003nxs.3_Missense_Mutation_p.W173R	NM_000434	NP_000425	Q99519	NEUR1_HUMAN	neuraminidase precursor	173	BNR 2.					cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			ovary(1)	1					Oseltamivir(DB00198)|Zanamivir(DB00558)	TCCTTGCTCCATACCAACATG	0.537													G	31829063	A	G	31829063	3	3	63	1	0	0	0	0	1	0	0	0	10341	217	8	3	746	3	NEU1	6	31829063	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	354925	31829063	139286004	610	45343											
SLC44A4	80736	broad.mit.edu	37	chr6	31831489	31831489	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttggacatgtagtagggcCggtccagggagccgttgttc	15	9	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:31831489C>A	uc010jti.2	-	21	2114	c.2048G>T	c.(2047-2049)CGG>CTG	p.R683L	NEU1_uc003nxq.3_5'Flank|NEU1_uc010jtg.2_5'Flank|NEU1_uc003nxr.3_5'Flank|NEU1_uc010jth.2_5'Flank|NEU1_uc003nxs.3_5'Flank	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	683	Cytoplasmic (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)	GTAGTAGGGCCGGTCCAGGGA	0.557													A	31831489	C	A	31831489	3	1	63	1	0	0	0	0	1	0	0	0	14638	652	23	5	88	5	SLC44A4	6	31831489	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2426	31831489	139283578	611	45344											
EHMT2	10919	broad.mit.edu	37	chr6	31852462	31852462	+	Frame_Shift_Del	DEL	G	G	-													ctcccgagctgcgatgtgcaGgggggtgtccccatggtagt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:31852461_31852461AG>A	uc003nxz.1	-	19	2574	c.2564_2564CT>T	c.(2563-2565)ctgfs	p.L855fs	EHMT2_uc003nxx.1_Frame_Shift_Del_p.L53fs|EHMT2_uc003nxy.1_Frame_Shift_Del_p.L653fs|EHMT2_uc011don.1_Frame_Shift_Del_p.L878fs|EHMT2_uc003nya.1_Frame_Shift_Del_p.L821fs	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	855					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TGCGATGTGCAGGGGGGTGTC	0.652													-	31852462	G	-	31852462	7	5	63	1	0	1	0	1	0	0	0	0	4984	991	35	0	1105	0	EHMT2	6	31852462	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	20973	31852462	139262605	612	45345											
TNXB	7148	broad.mit.edu	37	chr6	32015672	32015672	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccatccttatccttgtacTggaccacgaaggagtcgaat	9	11	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:32015672T>C	uc003nzl.2	-	30	10359	c.10157A>G	c.(10156-10158)CAG>CGG	p.Q3386R	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3433	Fibronectin type-III 26.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						ATCCTTGTACTGGACCACGAA	0.632													C	32015672	T	C	32015672	3	2	63	1	0	0	0	0	1	0	0	0	16343	1580	55	3	4616	3	TNXB	6	32015672	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	163210	32015672	139099395	613	45346											
TNXB	7148	broad.mit.edu	37	chr6	32015786	32015787	+	Frame_Shift_Ins	INS	-	-	A													gggagacggtttggtgtctgINSgggctggaaaagacagtgag							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:32015785_32015786T>TA	uc003nzl.2	-	29	10245_10246	c.10043_10044A>TA	c.(10042-10044)ccafs	p.P3348fs	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3395	Fibronectin type-III 25.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTTTGGTGTCTGGGGCTGGAAA	0.634													A	32015787	-	A	32015786	7	5	63	1	0	1	1	0	0	0	0	0	16343	1348	47	0	4730	0	TNXB	6	32015786	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	114	32015786	139099281	614	45347											
FKBPL	63943	broad.mit.edu	37	chr6	32097454	32097454	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcggggctgctgcctaAtctgaataactgaatcaagg	12	9	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:32097454A>C	uc003nzr.2	-	2	374	c.104T>G	c.(103-105)ATT>AGT	p.I35S	ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	WAF-1/CIP1 stabilizing protein 39	35					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						CTGCTGCCTAATCTGAATAAC	0.498													C	32097454	A	C	32097454	3	2	63	1	0	0	0	0	1	0	0	0	5916	101	4	5	949	5	FKBPL	6	32097454	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	81668	32097454	139017613	615	45348											
COL11A2	1302	broad.mit.edu	37	chr6	33132135	33132135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtctcaggggaccgtcaCgggctgctccagagcagggg	18	11	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:33132135C>T	uc003ocx.1	-	65	5207	c.4979G>A	c.(4978-4980)CGT>CAT	p.R1660H	COL11A2_uc010jul.1_Missense_Mutation_p.R230H|COL11A2_uc003ocy.1_Missense_Mutation_p.R1574H|COL11A2_uc003ocz.1_Missense_Mutation_p.R1553H	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1660	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						GGGACCGTCACGGGCTGCTCC	0.627													T	33132135	C	T	33132135	3	4	63	1	0	0	0	0	1	0	0	0	3668	536	19	1	239	1	COL11A2	6	33132135	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1034681	33132135	137982932	616	45349											
SLC39A7	7922	broad.mit.edu	37	chr6	33170084	33170084	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgtgggttctcagtggaAttgttgcctttcttgtcgtg	13	7	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:33170084A>G	uc003odf.2	+	5	796	c.679A>G	c.(679-681)ATT>GTT	p.I227V	RXRB_uc003odb.2_5'Flank|RXRB_uc003odc.2_5'Flank|RXRB_uc003odd.2_5'Flank|RXRB_uc011dqr.1_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.2_Missense_Mutation_p.I227V|SLC39A7_uc011dqv.1_Missense_Mutation_p.I102V|SLC39A7_uc003odh.2_5'UTR|HSD17B8_uc003odi.1_5'Flank	NM_001077516	NP_001070984	Q92504	S39A7_HUMAN	solute carrier family 39, member 7	227	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			large_intestine(1)	1						TCTCAGTGGAATTGTTGCCTT	0.512													G	33170084	A	G	33170084	3	3	63	1	0	0	0	0	1	0	0	0	14623	101	4	3	693	3	SLC39A7	6	33170084	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	37949	33170084	137944983	617	45350											
SCUBE3	222663	broad.mit.edu	37	chr6	35216468	35216468	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagtttccagcttcctgAggccctacaaatagtaaccc	6	14	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:35216468A>G	uc003okf.1	+	22	2974	c.2968A>G	c.(2968-2970)AGG>GGG	p.R990G	SCUBE3_uc003okg.1_Missense_Mutation_p.R989G|SCUBE3_uc003okh.1_Missense_Mutation_p.R877G	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	990					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						CAGCTTCCTGAGGCCCTACAA	0.522													G	35216468	A	G	35216468	3	3	63	1	0	0	0	0	1	0	0	0	13946	295	11	3	3054	3	SCUBE3	6	35216468	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	2046384	35216468	135898599	618	45351											
BRPF3	27154	broad.mit.edu	37	chr6	36177640	36177640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggacaacactggacctgcTgcaggagaaggatcctgcac	13	11	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:36177640T>C	uc003olv.3	+	5	2038	c.1814T>C	c.(1813-1815)CTG>CCG	p.L605P	BRPF3_uc010jwb.2_Missense_Mutation_p.L605P|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Missense_Mutation_p.L605P	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	605					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						CTGGACCTGCTGCAGGAGAAG	0.512													C	36177640	T	C	36177640	3	2	63	1	0	0	0	0	1	0	0	0	1521	1580	55	3	1828	3	BRPF3	6	36177640	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	961172	36177640	134937427	619	45352											
CDKN1A	1026	broad.mit.edu	37	chr6	36652118	36652118	+	Frame_Shift_Del	DEL	G	G	-													cccaagctctaccttcccacGgggccccggcgaggccggga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:36652118delG	uc003omm.3	+	2	362	c.240delG	c.(238-240)ACGfs	p.T80fs	CDKN1A_uc011dtq.1_Frame_Shift_Del_p.T114fs|CDKN1A_uc003oml.2_Frame_Shift_Del_p.T80fs|CDKN1A_uc003omn.2_Frame_Shift_Del_p.T80fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	80					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						ACCTTCCCACGGGGCCCCGGC	0.657									Multiple_Endocrine_Neoplasia_type_1				-	36652118	G	-	36652118	7	5	63	1	0	1	0	1	0	0	0	0	3158	1103	39	0	242	0	CDKN1A	6	36652118	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	474478	36652118	134462949	620	45353											
TBC1D22B	55633	broad.mit.edu	37	chr6	37250063	37250064	+	Frame_Shift_Ins	INS	-	-	C													gatcagaacgcttctggggcINSccccccaatgactgtccggg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:37250062_37250063G>GC	uc003onn.3	+	3	669_670	c.523_524G>GC	c.(523-525)gccfs	p.A175fs	TBC1D22B_uc010jwt.3_Non-coding_Transcript	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA.	175						intracellular	Rab GTPase activator activity	p.A175P(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CGCTTCTGGGGCCCCCCCAATG	0.569													C	37250064	-	C	37250063	7	5	63	1	0	1	1	0	0	0	0	0	15609	739	26	0	538	0	TBC1D22B	6	37250063	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	597945	37250063	133865004	621	45354											
DNAH8	1769	broad.mit.edu	37	chr6	38897349	38897349	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagcctttccttgggccgAccccttctcattgaggacat	9	14	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:38897349A>G	uc003ooe.1	+	73	11130	c.10530A>G	c.(10528-10530)CGA>CGG	p.R3510R	DNAH8_uc003oog.1_5'UTR|uc003oof.1_Intron	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CCTTGGGCCGACCCCTTCTCA	0.413													G	38897349	A	G	38897349	2	3	63	1	0	0	0	0	0	0	0	1	4607	262	10	3		3	DNAH8	6	38897349	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	1647286	38897349	132217718	622	45355											
UNC5CL	222643	broad.mit.edu	37	chr6	41002503	41002503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgatccacctctcgagccGaaaacaccaacagtttgtgc	9	13	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:41002503G>A	uc003opi.2	-	2	400	c.311C>T	c.(310-312)TCG>TTG	p.S104L	UNC5CL_uc010jxe.1_Missense_Mutation_p.S104L	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	unc-5 homolog C-like	104	ZU5.|Cytoplasmic (Potential).				signal transduction	cytoplasm|integral to membrane				ovary(2)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTCTCGAGCCGAAAACACCAA	0.562													A	41002503	G	A	41002503	3	1	63	1	0	0	0	0	1	0	0	0	16991	1059	37	1	1277	1	UNC5CL	6	41002503	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2105154	41002503	130112564	623	45356											
TRERF1	55809	broad.mit.edu	37	chr6	42231247	42231247	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtggtggcggcggaggCggaggcggaggcggcagtgg	25	7	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:42231247C>T	uc003osd.2	-	8	2258	c.1695G>A	c.(1693-1695)CCG>CCA	p.P565P	TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Silent_p.P565P	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	565	Pro-rich.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			gcggcggaggcggaggcggag	0.383													T	42231247	C	T	42231247	2	4	63	1	0	0	0	0	0	0	0	1	16472	755	27	1		1	TRERF1	6	42231247	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1228744	42231247	128883820	624	45357											
CUL9	23113	broad.mit.edu	37	chr6	43184211	43184212	+	Frame_Shift_Del	DEL	CT	CT	-													gggtgtgacgacgacctgccCtctctctgctgcatgcacta							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:43184210_43184211CCT>C	uc003ouk.3	+	30	6326_6327	c.6251_6252CCT>C	c.(6250-6252)cccfs	p.P2084fs	CUL9_uc003oul.3_Frame_Shift_Del_p.P2056fs|CUL9_uc010jyk.3_Frame_Shift_Del_p.P1236fs|CUL9_uc003oun.3_Intron	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	2084					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GACGACCTGCCCTCTCTCTGCT	0.609													-	43184212	CT	-	43184211	7	5	63	1	0	1	0	1	0	0	0	0	4061	668	24	0	6370	0	CUL9	6	43184211	Frame_Shift_Del	DEL	CT	TCGA-BR-8078-01A-11D-2340-08	952964	43184211	127930856	625	45358											
ABCC10	89845	broad.mit.edu	37	chr6	43401046	43401046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaaagtgattgccacccGcatcatggccagcaaccagg	9	14	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:43401046G>A	uc003ouy.1	+	3	1543	c.1328G>A	c.(1327-1329)CGC>CAC	p.R443H	ABCC10_uc003ouz.1_Missense_Mutation_p.R400H|ABCC10_uc010jyo.1_5'Flank	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	443	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			ATTGCCACCCGCATCATGGCC	0.587													A	43401046	G	A	43401046	3	1	63	1	0	0	0	0	1	0	0	0	50	1087	38	1	1201	1	ABCC10	6	43401046	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	216835	43401046	127714021	626	45359											
MEP1A	4224	broad.mit.edu	37	chr6	46797282	46797282	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcacaggcaatgttcgcaAgttggtgaaggtgcagactt	13	8	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:46797282A>C	uc010jzh.1	+	10	1160	c.1118A>C	c.(1117-1119)AAG>ACG	p.K373T	MEP1A_uc011dwg.1_Missense_Mutation_p.K95T|MEP1A_uc011dwh.1_Missense_Mutation_p.K401T|MEP1A_uc011dwi.1_Missense_Mutation_p.K273T	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	373	Extracellular (Potential).|MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)			AATGTTCGCAAGTTGGTGAAG	0.413													C	46797282	A	C	46797282	3	2	63	1	0	0	0	0	1	0	0	0	9475	72	3	5	1156	5	MEP1A	6	46797282	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	3396236	46797282	124317785	627	45360											
GPR110	266977	broad.mit.edu	37	chr6	46976905	46976905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccacaacgaagttcacagCcacaatagccagtgcaggga	9	13	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:46976905C>T	uc003oyt.2	-	11	2465	c.2266G>A	c.(2266-2268)GCT>ACT	p.A756T	GPR110_uc011dwl.1_Missense_Mutation_p.A444T	NM_153840	NP_722582	Q5T601	GP110_HUMAN	G-protein coupled receptor 110 isoform 1	756	Helical; Name=5; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|pancreas(1)	3						AAGTTCACAGCCACAATAGCC	0.507													T	46976905	C	T	46976905	3	4	63	1	0	0	0	0	1	0	0	0	6627	739	26	2	486	2	GPR110	6	46976905	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	179623	46976905	124138162	628	45361											
PKHD1	5314	broad.mit.edu	37	chr6	51889477	51889477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgacgtggtactccccggCcggaagggaagggaccacgc	15	13	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:51889477C>T	uc003pah.1	-	32	5407	c.5131G>A	c.(5131-5133)GCC>ACC	p.A1711T	PKHD1_uc003pai.2_Missense_Mutation_p.A1711T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1711	IPT/TIG 12; atypical.|Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TACTCCCCGGCCGGAAGGGAA	0.527													T	51889477	C	T	51889477	3	4	63	1	0	0	0	0	1	0	0	0	11971	739	26	2	7276	2	PKHD1	6	51889477	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4912572	51889477	119225590	629	45362											
PKHD1	5314	broad.mit.edu	37	chr6	51934317	51934317	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagccatgccttcttgtggAccattgaccttcgaaaaaga	8	11	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:51934317A>C	uc003pah.1	-	11	992	c.716T>G	c.(715-717)GTC>GGC	p.V239G	PKHD1_uc003pai.2_Missense_Mutation_p.V239G	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	239	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CTTCTTGTGGACCATTGACCT	0.433													C	51934317	A	C	51934317	3	2	63	1	0	0	0	0	1	0	0	0	11971	275	10	5	11775	5	PKHD1	6	51934317	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	44840	51934317	119180750	630	45363											
HCRTR2	3062	broad.mit.edu	37	chr6	55039411	55039412	+	Frame_Shift_Ins	INS	-	-	C													ggcaccaaattggaggactcINSccccccttgtcgcaactggt					rs76774128		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:55039410_55039411T>TC	uc003pcl.3	+	0	340_341	c.25_26T>TC	c.(25-27)tccfs	p.S9fs	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564													C	55039412	-	C	55039411	7	5	63	1	0	1	1	0	0	0	0	0	7002	855	30	0	28	0	HCRTR2	6	55039411	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	3105094	55039411	116075656	631	45364											
HCRTR2	3062	broad.mit.edu	37	chr6	55128600	55128600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcttatctgcaaatatttCgcaaactctggtgtcgacag	9	9	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:55128600C>T	uc003pcl.2	+	4	1057	c.742C>T	c.(742-744)CGC>TGC	p.R248C	HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.R183C	NM_001526	NP_001517	O43614	OX2R_HUMAN	orexin receptor 2	248	Cytoplasmic (Potential).				feeding behavior	integral to plasma membrane	neuropeptide receptor activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCAAATATTTCGCAAACTCTG	0.373													T	55128600	C	T	55128600	3	4	63	1	0	0	0	0	1	0	0	0	7002	884	31	1	756	1	HCRTR2	6	55128600	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	89189	55128600	115986467	632	45365											
DST	667	broad.mit.edu	37	chr6	56328498	56328498	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggggtcggaaagcagccatAccctggctggcaccatctgc	13	14	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:56328498A>G	uc003pdf.2	-	94	16423	c.16395T>C	c.(16393-16395)GGT>GGC	p.G5465G	DST_uc003pcz.3_Silent_p.G5287G|DST_uc011dxj.1_Silent_p.G5316G|DST_uc011dxk.1_Silent_p.G5327G|DST_uc003pcy.3_Silent_p.G4961G|DST_uc003pcv.3_Silent_p.G83G|DST_uc003pcw.3_Silent_p.G44G|DST_uc003pcx.3_Silent_p.G44G	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	7397					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)			AAGCAGCCATACCCTGGCTGG	0.542													G	56328498	A	G	56328498	2	3	63	1	0	0	0	0	0	0	0	1	4783	378	14	3		3	DST	6	56328498	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	1199898	56328498	114786569	633	45366											
KHDRBS2	202559	broad.mit.edu	37	chr6	62442601	62442601	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttacctttgtgtttgggtCgcatagctgttatcataagt	9	8	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:62442601C>T	uc003peg.2	-	7	1126	c.879G>A	c.(877-879)GCG>GCA	p.A293A		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		GTGTTTGGGTCGCATAGCTGT	0.378													T	62442601	C	T	62442601	2	4	63	1	0	0	0	0	0	0	0	1	8147	871	31	1		1	KHDRBS2	6	62442601	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	6114103	62442601	108672466	634	45367											
KHDRBS2	202559	broad.mit.edu	37	chr6	62757868	62757868	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcctcttcaaggagtttcctCttggtccaagcaatttcccc	7	14	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:62757868C>A	uc003peg.2	-	3	498	c.251G>T	c.(250-252)AGA>ATA	p.R84I		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	84	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		GGAGTTTCCTCTTGGTCCAAG	0.368													A	62757868	C	A	62757868	3	1	63	1	0	0	0	0	1	0	0	0	8147	913	32	5	826	5	KHDRBS2	6	62757868	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	315267	62757868	108357199	635	45368											
EYS	346007	broad.mit.edu	37	chr6	66115078	66115078	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacttacatttgatatttTgatgcagtcagtaccattct	7	7	2	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:66115078T>C	uc011dxu.1	-	6	1583	c.1045A>G	c.(1045-1047)AAA>GAA	p.K349E	EYS_uc003peq.2_Missense_Mutation_p.K349E|EYS_uc003per.1_Missense_Mutation_p.K349E	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	349	EGF-like 4.				response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						TTTGATATTTTGATGCAGTCA	0.303													C	66115078	T	C	66115078	3	2	63	1	0	0	0	0	1	0	0	0	5332	1821	63	3	8503	3	EYS	6	66115078	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	3357210	66115078	104999989	636	45369											
B3GAT2	135152	broad.mit.edu	37	chr6	71603915	71603915	+	Missense_Mutation	SNP	C	C	T													gttttccaccagcggacgttCgtagcgccgcccaccaacca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:71603915C>T	uc003pfv.2	-	2	1308	c.652G>A	c.(652-654)GAA>AAA	p.E218K	B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.E218K	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	218	Lumenal (Potential).				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						AGCGGACGTTCGTAGCGCCGC	0.557													T	71603915	C	T	71603915	3	4	63	1	0	0	0	0	1	0	0	0	1254	893	31	1	331	1	B3GAT2	6	71603915	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	5488837	71603915	99511152	637	45370	167	2									
B3GAT2	135152	broad.mit.edu	37	chr6	71603921	71603921	+	Missense_Mutation	SNP	G	G	A													caccagcggacgttcgtagcGccgcccaccaaccaggccca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:71603921G>A	uc003pfv.2	-	2	1302	c.646C>T	c.(646-648)CGC>TGC	p.R216C	B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.R216C	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	216	Lumenal (Potential).				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						CGTTCGTAGCGCCGCCCACCA	0.542													A	71603921	G	A	71603921	3	1	63	1	0	0	0	0	1	0	0	0	1254	1087	38	1	337	1	B3GAT2	6	71603921	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	6	71603921	99511146	638	45371	167	2									
RIMS1	22999	broad.mit.edu	37	chr6	72892050	72892050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagagcgagcggaaacgCgtgccaaagacctcagcgca	13	12	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:72892050C>T	uc003pga.2	+	6	953	c.876C>T	c.(874-876)CGC>CGT	p.R292R	RIMS1_uc011dyb.1_5'UTR|RIMS1_uc003pgc.2_5'UTR|RIMS1_uc003pgb.3_5'UTR	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	292					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGCGGAAACGCGTGCCAAAGA	0.562													T	72892050	C	T	72892050	2	4	63	1	0	0	0	0	0	0	0	1	13367	755	27	1		1	RIMS1	6	72892050	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1288129	72892050	98223017	639	45372											
CD109	135228	broad.mit.edu	37	chr6	74476679	74476679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttttttctaggtgggatcGccttttgagttggtggttag	14	4	1	1	rs147947606	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:74476679G>A	uc003php.2	+	13	1868	c.1443G>A	c.(1441-1443)TCG>TCA	p.S481S	CD109_uc010kaz.2_Silent_p.S481S|CD109_uc003phq.2_Silent_p.S481S|CD109_uc010kba.2_Silent_p.S404S	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	481						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						AGGTGGGATCGCCTTTTGAGT	0.303													A	74476679	G	A	74476679	2	1	63	1	0	0	0	0	0	0	0	1	2963	1074	38	1		1	CD109	6	74476679	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1584629	74476679	96638388	640	45373											
PHIP	55023	broad.mit.edu	37	chr6	79700597	79700597	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atatgtacctttgagacagtGggtattttattctcttttgg	9	5	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:79700597G>T	uc003pir.2	-	20	2533	c.2307C>A	c.(2305-2307)CCC>CCA	p.P769P	PHIP_uc011dyp.1_Silent_p.P768P	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	769					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTGAGACAGTGGGTATTTTAT	0.303													T	79700597	G	T	79700597	2	4	63	1	0	0	0	0	0	0	0	1	11842	1335	47	5		5	PHIP	6	79700597	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	5223918	79700597	91414470	641	45374											
TTK	7272	broad.mit.edu	37	chr6	80724229	80724229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggtgtcagatgaaaagaGttctgaacttattattactg	9	5	3	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:80724229G>A	uc003pjc.2	+	10	1108	c.1034G>A	c.(1033-1035)AGT>AAT	p.S345N	TTK_uc003pjb.3_Missense_Mutation_p.S345N	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	345					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GATGAAAAGAGTTCTGAACTT	0.308													A	80724229	G	A	80724229	3	1	63	1	0	0	0	0	1	0	0	0	16717	1029	36	4	1068	4	TTK	6	80724229	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1023632	80724229	90390838	642	45375											
DOPEY1	23033	broad.mit.edu	37	chr6	83841932	83841932	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgggaccagttgggagatgGgacacctcagcatcaccaga	14	10	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:83841932G>T	uc003pjs.1	+	18	2914	c.2654G>T	c.(2653-2655)GGG>GTG	p.G885V	DOPEY1_uc011dyy.1_Missense_Mutation_p.G876V|DOPEY1_uc010kbl.1_Missense_Mutation_p.G876V	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	885					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTGGGAGATGGGACACCTCAG	0.358													T	83841932	G	T	83841932	3	4	63	1	0	0	0	0	1	0	0	0	4707	1232	43	5	2716	5	DOPEY1	6	83841932	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3117703	83841932	87273135	643	45376											
ME1	4199	broad.mit.edu	37	chr6	83921763	83921763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaatgcttctttgttttgCggttcaggataaactgtggc	10	7	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:83921763C>T	uc003pjy.2	-	14	1705	c.1599G>A	c.(1597-1599)CCG>CCA	p.P533P	ME1_uc011dzb.1_Silent_p.P458P|ME1_uc011dzc.1_Silent_p.P367P	NM_002395	NP_002386	P48163	MAOX_HUMAN	cytosolic malic enzyme 1	533					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	CTTTGTTTTGCGGTTCAGGAT	0.343													T	83921763	C	T	83921763	2	4	63	1	0	0	0	0	0	0	0	1	9417	755	27	1		1	ME1	6	83921763	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	79831	83921763	87193304	644	45377											
SNAP91	9892	broad.mit.edu	37	chr6	84368775	84368775	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	attggcatactctttagcagCttttcgggagccattgtcct	9	10	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:84368775C>G	uc011dze.1	-	6	806	c.489G>C	c.(487-489)AAG>AAC	p.K163N	SNAP91_uc003pkb.2_Missense_Mutation_p.K128N|SNAP91_uc003pkc.2_Missense_Mutation_p.K163N|SNAP91_uc003pkd.2_Missense_Mutation_p.K163N|SNAP91_uc003pka.2_Missense_Mutation_p.K163N|SNAP91_uc011dzf.1_Missense_Mutation_p.K44N	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	163					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TCTTTAGCAGCTTTTCGGGAG	0.353													G	84368775	C	G	84368775	3	3	63	1	0	0	0	0	1	0	0	0	14833	796	28	5	2326	5	SNAP91	6	84368775	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	447012	84368775	86746292	645	45378											
KIAA1009	22832	broad.mit.edu	37	chr6	84870551	84870551	+	Frame_Shift_Del	DEL	T	T	-													ttgtcgctccagatcctgaaTttttttggcatctgctgctt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:84870550_84870550AT>A	uc010kbp.3	-	20	2859	c.2762_2762AT>T	c.(2761-2763)attfs	p.I921fs	KIAA1009_uc003pkj.4_Frame_Shift_Del_p.I845fs|KIAA1009_uc003pki.4_Frame_Shift_Del_p.I307fs	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	921					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CAGATCCTGAATTTTTTTGGC	0.353													-	84870551	T	-	84870551	7	5	63	1	0	1	0	1	0	0	0	0	8203	1493	52	0	1478	0	KIAA1009	6	84870551	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	501776	84870551	86244516	646	45379											
TBX18	9096	broad.mit.edu	37	chr6	85466490	85466490	+	Frame_Shift_Del	DEL	C	C	-													aacttgtctcatccaagtctCccccgaggcaggcgagtctg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:85466490delC	uc003pkl.1	-	4	697	c.697delG	c.(697-699)GAGfs	p.E233fs	TBX18_uc010kbq.1_Frame_Shift_Del_p.E75fs	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	233	T-box.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		ATCCAAGTCTCCCCCGAGGCA	0.507													-	85466490	C	-	85466490	7	5	63	1	0	1	0	1	0	0	0	0	15650	864	30	0	1146	0	TBX18	6	85466490	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	595939	85466490	85648577	647	45380											
TBX18	9096	broad.mit.edu	37	chr6	85472405	85472405	+	Frame_Shift_Del	DEL	G	G	-													gagcgcgccggagaccccttGggggagcctcccggtgacgc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:85472404_85472404TG>T	uc003pkl.1	-	1	355	c.355_355CA>A	c.(355-357)aagfs	p.K119fs	TBX18_uc010kbq.2_5'UTR	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	119					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGAGACCCCTTGGGGGAGCCT	0.711													-	85472405	G	-	85472405	7	5	63	1	0	1	0	1	0	0	0	0	15650	1335	47	0	1497	0	TBX18	6	85472405	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	5915	85472405	85642662	648	45381											
ZNF292	23036	broad.mit.edu	37	chr6	87955302	87955302	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgagaggtgtcgtcaactTtctttgttaacgaaaacagt	9	7	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:87955302T>C	uc003plm.3	+	7	1001	c.960T>C	c.(958-960)CTT>CTC	p.L320L		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTCGTCAACTTTCTTTGTTAA	0.289													C	87955302	T	C	87955302	2	2	63	1	0	0	0	0	0	0	0	1	17823	1828	64	3		3	ZNF292	6	87955302	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	2482897	87955302	83159765	649	45382											
C6orf162	57150	broad.mit.edu	37	chr6	88049878	88049878	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtaactctttcactttgCgtggcatatattggttatct	8	7	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:88049878C>T	uc003plp.1	+	4	269	c.180C>T	c.(178-180)TGC>TGT	p.C60C	C6orf164_uc003plr.2_Intron|C6orf162_uc003plq.1_Silent_p.C60C	NM_001042493	NP_001035958	Q96KF7	CF162_HUMAN	hypothetical protein LOC57150	60	Helical; (Potential).					integral to membrane					0		all_cancers(76;3.81e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.3e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0164)		TTTCACTTTGCGTGGCATATA	0.358													T	88049878	C	T	88049878	2	4	63	1	0	0	0	0	0	0	0	1	2340	776	27	1		1	C6orf162	6	88049878	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	94576	88049878	83065189	650	45383											
MDN1	23195	broad.mit.edu	37	chr6	90428705	90428705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaacaggggatggcgggaCgggtgaggaacacagctccc	17	10	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:90428705C>T	uc003pnn.1	-	42	6218	c.6102G>A	c.(6100-6102)CCG>CCA	p.P2034P		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2034					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GATGGCGGGACGGGTGAGGAA	0.562													T	90428705	C	T	90428705	2	4	63	1	0	0	0	0	0	0	0	1	9415	523	19	1		1	MDN1	6	90428705	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2378827	90428705	80686362	651	45384											
MANEA	79694	broad.mit.edu	37	chr6	96034417	96034417	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgctgagaccaaatacagcTacttttggagctccttttgg	9	9	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:96034417T>C	uc003poo.1	+	2	242	c.102T>C	c.(100-102)GCT>GCC	p.A34A	MANEA_uc003pon.2_Silent_p.A34A	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	34	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		CAAATACAGCTACTTTTGGAG	0.363													C	96034417	T	C	96034417	2	2	63	1	0	0	0	0	0	0	0	1	9221	1509	53	3		3	MANEA	6	96034417	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	5605712	96034417	75080650	652	45385											
CCNC	892	broad.mit.edu	37	chr6	100009286	100009286	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacatgtaggagccattaatAcaggatctatacttttcaga	7	8	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:100009286A>G	uc003pqe.2	-	4	538	c.251T>C	c.(250-252)GTA>GCA	p.V84A	uc003pqc.2_Intron|CCNC_uc003pqd.2_5'UTR|CCNC_uc010kcr.2_RNA|CCNC_uc010kcs.2_Missense_Mutation_p.V84A|CCNC_uc011eah.1_5'UTR|CCNC_uc003pqf.2_Missense_Mutation_p.V84A	NM_005190	NP_005181	P24863	CCNC_HUMAN	cyclin C isoform a	84	Cyclin N-terminal.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding				0		all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		AGCCATTAATACAGGATCTAT	0.299													G	100009286	A	G	100009286	3	3	63	1	0	0	0	0	1	0	0	0	2915	391	14	3	636	3	CCNC	6	100009286	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	3974869	100009286	71105781	653	45386											
SIM1	6492	broad.mit.edu	37	chr6	100896393	100896393	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttcatgtccaggctggcGcggaacataaacatattgct	10	10	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:100896393G>A	uc003pqj.3	-	6	912	c.705C>T	c.(703-705)CGC>CGT	p.R235R	SIM1_uc010kcu.2_Silent_p.R235R	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	235	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCAGGCTGGCGCGGAACATAA	0.617													A	100896393	G	A	100896393	2	1	63	1	0	0	0	0	0	0	0	1	14323	1074	38	1		1	SIM1	6	100896393	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	887107	100896393	70218674	654	45387											
HACE1	57531	broad.mit.edu	37	chr6	105233031	105233031	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagattttcatagctcccaGgtcctggaggttcaaatgga	10	9	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:105233031G>T	uc003pqu.1	-	12	1515	c.1238C>A	c.(1237-1239)CCT>CAT	p.P413H	HACE1_uc010kcy.1_Translation_Start_Site|HACE1_uc010kcz.1_Missense_Mutation_p.P413H|HACE1_uc010kcx.1_Translation_Start_Site|HACE1_uc003pqt.1_Missense_Mutation_p.P66H	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing, E3	413					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			ovary(5)|lung(2)	7		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		ATAGCTCCCAGGTCCTGGAGG	0.433													T	105233031	G	T	105233031	3	4	63	1	0	0	0	0	1	0	0	0	6940	1000	35	5	1543	5	HACE1	6	105233031	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	4336638	105233031	65882036	655	45388											
SOBP	55084	broad.mit.edu	37	chr6	107956439	107956439	+	Frame_Shift_Del	DEL	G	G	-													atgggcgaggaggccctggcGgggggcgacaagtcagaccc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:107956438_107956438CG>C	uc003prx.3	+	5	2894	c.2390_2390CG>C	c.(2389-2391)gcgfs	p.A797fs		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA.	797							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GAGGCCCTGGCGGGGGGCGAC	0.627													-	107956439	G	-	107956439	7	5	63	1	0	1	0	1	0	0	0	0	14912	1103	39	0	2413	0	SOBP	6	107956439	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	2723408	107956439	63158628	656	45389											
SCML4	256380	broad.mit.edu	37	chr6	108067996	108067996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggcctgctgcagcaccgcCgatggccgctcgggcccaaa	13	17	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:108067996C>T	uc010kdf.2	-	4	635	c.384G>A	c.(382-384)TCG>TCA	p.S128S	SCML4_uc003prz.3_Silent_p.S70S|SCML4_uc011eam.1_Silent_p.S128S|SCML4_uc003psa.3_Silent_p.S99S	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GCAGCACCGCCGATGGCCGCT	0.622													T	108067996	C	T	108067996	2	4	63	1	0	0	0	0	0	0	0	1	13911	639	23	1		1	SCML4	6	108067996	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	111557	108067996	63047071	657	45390											
FOXO3	2309	broad.mit.edu	37	chr6	108985055	108985055	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaagtccaggacgatgAtgcgcctctctcgcccatgc	12	13	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:108985055A>G	uc003psk.2	+	3	1335	c.1019A>G	c.(1018-1020)GAT>GGT	p.D340G	FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Missense_Mutation_p.D340G|FOXO3_uc011ean.1_Missense_Mutation_p.D120G|FOXO3_uc010kdj.1_Missense_Mutation_p.D120G	NM_201559	NP_963853	O43524	FOXO3_HUMAN	forkhead box O3A	340					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(4)|lung(2)	6		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CAGGACGATGATGCGCCTCTC	0.582													G	108985055	A	G	108985055	3	3	63	1	0	0	0	0	1	0	0	0	6024	333	12	3	1025	3	FOXO3	6	108985055	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	917059	108985055	62130012	658	45391											
ZBTB24	9841	broad.mit.edu	37	chr6	109802729	109802730	+	Frame_Shift_Ins	INS	-	-	T													cctcctgcaatgtattgactINSttttttggtcttccccgttt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:109802728_109802729C>CT	uc003ptl.1	-	1	669_670	c.501_502G>AG	c.(499-504)aaagtcfs	p.K167fs	ZBTB24_uc011ear.1_Non-coding_Transcript|ZBTB24_uc010kds.1_Frame_Shift_Ins_p.K167fs|ZBTB24_uc010kdt.1_Non-coding_Transcript|ZBTB24_uc003ptm.3_Frame_Shift_Ins_p.K167fs	NM_014797	NP_055612	O43167	ZBT24_HUMAN	Homo sapiens zinc finger and BTB domain containing 24 (ZBTB24), transcript variant 1, mRNA.	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		AATGTATTGACTTTTTTTGGTC	0.416													T	109802730	-	T	109802729	7	5	63	1	0	1	1	0	0	0	0	0	17528	1606	56	0	1666	0	ZBTB24	6	109802729	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	817674	109802729	61312338	659	45392											
AKD1	221264	broad.mit.edu	37	chr6	109980432	109980434	+	Splice_Site	DEL	TCT	TCT	-													ttacctattgagatattaccTcttcttcttcttgctcttct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:109980431_109980433CTCT>C	uc003ptn.2	-	7	707	c.630_splice	c.e7+1	p.E210_splice	AKD1_uc003ptr.4_Splice_Site_p.E210_splice|AKD1_uc003pts.2_Non-coding_Transcript	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	210	Glu-rich.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						GAGATATTACCtcttcttcttct	0.35													-	109980434	TCT	-	109980432	8	5	63	1	0	1	0	1	0	0	1	0	460	1565	54	0	5258	0	AKD1	6	109980432	Splice_Site	DEL	TCT	TCGA-BR-8078-01A-11D-2340-08	177703	109980432	61134635	660	45393											
AMD1	262	broad.mit.edu	37	chr6	111213388	111213388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcatattgtatgggacGtatgaattctgactgttggt	12	5	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:111213388G>A	uc003puk.1	+	5	774	c.452G>A	c.(451-453)CGT>CAT	p.R151H	AMD1_uc011eay.1_Missense_Mutation_p.R82H|AMD1_uc011eaz.1_Missense_Mutation_p.R122H|AMD1_uc011eba.1_Intron|AMD1_uc003pul.1_Missense_Mutation_p.R3H	NM_001634	NP_001625	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1 isoform 1	151					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			upper_aerodigestive_tract(1)	1		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	TGTATGGGACGTATGAATTCT	0.333													A	111213388	G	A	111213388	3	1	63	1	0	0	0	0	1	0	0	0	566	1145	40	1	470	1	AMD1	6	111213388	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1232956	111213388	59901679	661	45394											
COL10A1	1300	broad.mit.edu	37	chr6	116441750	116441750	+	Frame_Shift_Del	DEL	G	G	-													ctggtgggcctggaggcccaGggggccctggaagaccaggc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:116441749_116441749AG>A	uc003pwm.3	-	2	1626	c.1530_1530CT>T	c.(1528-1530)cctfs	p.P510fs	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	510	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		CTGGAGGCCCAGGGGGCCCTG	0.617													-	116441750	G	-	116441750	7	5	63	1	0	1	0	1	0	0	0	0	3666	1000	35	0	517	0	COL10A1	6	116441750	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	5228362	116441750	54673317	662	45395											
RSPH4A	345895	broad.mit.edu	37	chr6	116951612	116951612	+	Frame_Shift_Del	DEL	C	C	-													ttccagagattcagaatataCccccctggacaacacggtta							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:116951611_116951611AC>A	uc003pxe.2	+	4	1957	c.1812_1812AC>A	c.(1810-1812)atafs	p.I604fs	RSPH4A_uc010kee.2_Frame_Shift_Del_p.Y559fs	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA.	604					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTCAGAATATACCCCCCTGGA	0.398									Kartagener syndrome				-	116951612	C	-	116951612	7	5	63	1	0	1	0	1	0	0	0	0	13706	519	18	0	1831	0	RSPH4A	6	116951612	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	509862	116951612	54163455	663	45396											
FAM162B	221303	broad.mit.edu	37	chr6	117086374	117086374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacagcaggattttcttgtCgaactgcgaaggcctgcgct	11	12	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:117086374C>T	uc003pxi.2	-	2	364	c.217G>A	c.(217-219)GAC>AAC	p.D73N		NM_001085480	NP_001078949	Q5T6X4	F162B_HUMAN	hypothetical protein LOC221303	73						integral to membrane					0						ATTTTCTTGTCGAACTGCGAA	0.617													T	117086374	C	T	117086374	3	4	63	1	0	0	0	0	1	0	0	0	5475	884	31	1	283	1	FAM162B	6	117086374	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	134762	117086374	54028693	664	45397											
NKAIN2	154215	broad.mit.edu	37	chr6	124676492	124676492	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggctggggacctctcaaAggtaatttacatctaatttg	11	7	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:124676492A>G	uc003pzo.2	+	3	549	c.272A>G	c.(271-273)AAG>AGG	p.K91R	NKAIN2_uc003pzn.1_Missense_Mutation_p.K91R|NKAIN2_uc003pzp.2_Missense_Mutation_p.K90R|NKAIN2_uc010keq.2_Missense_Mutation_p.K91R|NKAIN2_uc010ker.2_5'UTR	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	T-cell lymphoma breakpoint-associated target 1	91		Breakpoint for interstitial deletion to form SUSP1-NKAIN2.				integral to membrane|plasma membrane					0				GBM - Glioblastoma multiforme(226;0.104)		GACCTCTCAAAGGTAATTTAC	0.448													G	124676492	A	G	124676492	3	3	63	1	0	0	0	0	1	0	0	0	10436	86	3	3	282	3	NKAIN2	6	124676492	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	7590118	124676492	46438575	665	45398											
C6orf174	387104	broad.mit.edu	37	chr6	127837736	127837736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgtggcaggggcagcGcccccgattggtggctgact	17	12	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:127837736G>A	uc003qbd.2	-	2	889	c.24C>T	c.(22-24)GGC>GGT	p.G8G		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	8						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		CAGGGGCAGCGCCCCCGATTG	0.612													A	127837736	G	A	127837736	2	1	63	1	0	0	0	0	0	0	0	1	2345	1074	38	1		1	C6orf174	6	127837736	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3161244	127837736	43277331	666	45399											
C6orf191	253582	broad.mit.edu	37	chr6	130164743	130164743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagccaggacattcaactcaTgcaccctaaagatgttataa	7	10	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:130164743T>C	uc003qbs.2	-	3	208	c.125A>G	c.(124-126)CAT>CGT	p.H42R		NM_001010876	NP_001010876	Q5VVB8	CF191_HUMAN	hypothetical protein LOC253582	42						integral to membrane				large_intestine(1)	1				GBM - Glioblastoma multiforme(226;0.0387)|all cancers(137;0.115)|OV - Ovarian serous cystadenocarcinoma(155;0.131)		ATTCAACTCATGCACCCTAAA	0.323													C	130164743	T	C	130164743	3	2	63	1	0	0	0	0	1	0	0	0	2348	1464	51	3	273	3	C6orf191	6	130164743	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	2327007	130164743	40950324	667	45400											
ALDH8A1	64577	broad.mit.edu	37	chr6	135239672	135239672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggttcagctccctgatgaGccagcagttggtccagacca	11	12	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:135239672G>A	uc003qew.2	-	7	1398	c.1345C>T	c.(1345-1347)CTC>TTC	p.L449F	ALDH8A1_uc003qex.2_Missense_Mutation_p.L395F|ALDH8A1_uc010kgh.2_Missense_Mutation_p.L227F|ALDH8A1_uc011ecx.1_Missense_Mutation_p.L399F	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8A1 isoform 1	449					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		TCCCTGATGAGCCAGCAGTTG	0.557													A	135239672	G	A	135239672	3	1	63	1	0	0	0	0	1	0	0	0	505	971	34	2	122	2	ALDH8A1	6	135239672	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	5074929	135239672	35875395	668	45401											
SLC35D3	340146	broad.mit.edu	37	chr6	137243721	137243721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcctgaccagctccaccgCggcgctgagcctggagctgc	14	16	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:137243721C>T	uc003qhe.2	+	1	320	c.155C>T	c.(154-156)GCG>GTG	p.A52V		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	52	Helical; (Potential).				carbohydrate transport	integral to membrane				ovary(1)|central_nervous_system(1)	2	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		AGCTCCACCGCGGCGCTGAGC	0.682													T	137243721	C	T	137243721	3	4	63	1	0	0	0	0	1	0	0	0	14583	768	27	1	157	1	SLC35D3	6	137243721	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2004049	137243721	33871346	669	45402											
OLIG3	167826	broad.mit.edu	37	chr6	137815334	137815334	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggggatgcggccctaccGtggggaggctttaggcggga	19	9	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:137815334G>A	uc003qhp.1	-	1	198	c.-26C>T	c.(-28--24)CACGG>CATGG			NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		CGGCCCTACCGTGGGGAGGCT	0.468													A	137815334	G	A	137815334	1	1	63	1	0	0	0	0	0	0	0	0	10862	1160	40	1		1	OLIG3	6	137815334	Translation_Start_Site	SNP	G	TCGA-BR-8078-01A-11D-2340-08	571613	137815334	33299733	670	45403											
HECA	51696	broad.mit.edu	37	chr6	139488147	139488148	+	Frame_Shift_Ins	INS	-	-	G													gcggggttggcagttcacagINSggggggacacttcgacaccc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:139488146_139488147A>AG	uc003qin.3	+	1	1282_1283	c.997_998A>AG	c.(997-999)aggfs	p.R333fs		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	333					respiratory tube development			p.H336fs*25(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GGCAGTTCACAGGGGGGGACAC	0.589													G	139488148	-	G	139488147	7	5	63	1	0	1	1	0	0	0	0	0	7038	1000	35	0	1004	0	HECA	6	139488147	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1672813	139488147	31626920	671	45404											
PLAGL1	5325	broad.mit.edu	37	chr6	144262630	144262630	+	Frame_Shift_Del	DEL	G	G	-													gctgagaacacatgagggatGgggggcagggggagctggcc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:144262629_144262629TG>T	uc003qjv.3	-	2	2590	c.1324_1324CA>A	c.(1324-1326)atcfs	p.I442fs	PLAGL1_uc003qjx.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc003qjy.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc010khl.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc010khm.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc003qjz.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc003qka.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc003qkb.3_Frame_Shift_Del_p.I390fs|PLAGL1_uc003qkc.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc003qkd.3_Frame_Shift_Del_p.I390fs|PLAGL1_uc003qke.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc003qkf.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc003qkg.3_Frame_Shift_Del_p.I390fs|PLAGL1_uc003qkh.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc003qki.3_Frame_Shift_Del_p.I390fs|PLAGL1_uc003qkj.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc003qkk.3_Frame_Shift_Del_p.I390fs|PLAGL1_uc003qkl.3_Frame_Shift_Del_p.I390fs|PLAGL1_uc003qkm.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc010khn.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc003qkn.3_Frame_Shift_Del_p.I390fs|PLAGL1_uc003qko.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc003qkp.3_Frame_Shift_Del_p.I390fs|PLAGL1_uc003qjw.3_Frame_Shift_Del_p.I390fs|PLAGL1_uc021zgj.1_Frame_Shift_Del_p.I390fs	NM_002656	NP_002647	Q9UM63	PLAL1_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 1, mRNA.	442					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P441H(1)		endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		ACATGAGGGATGGGGGGCAGG	0.532													-	144262630	G	-	144262630	7	5	63	1	0	1	0	1	0	0	0	0	12019	1335	47	0	72	0	PLAGL1	6	144262630	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	4774483	144262630	26852437	672	45405											
FBXO30	84085	broad.mit.edu	37	chr6	146121412	146121412	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcaaatttccattcatTaacagaacaaaatgcagtac	5	9	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:146121412T>C	uc003qla.2	-	3	2267	c.2068A>G	c.(2068-2070)AAT>GAT	p.N690D	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	690							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TTCCATTCATTAACAGAACAA	0.373													C	146121412	T	C	146121412	3	2	63	1	0	0	0	0	1	0	0	0	5740	1754	61	3	173	3	FBXO30	6	146121412	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1858782	146121412	24993655	673	45406											
GRM1	2911	broad.mit.edu	37	chr6	146720412	146720412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggaagtctaccttatctGcaataccagcaacctgggtg	9	11	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:146720412G>A	uc010khw.1	+	8	2707	c.2237G>A	c.(2236-2238)TGC>TAC	p.C746Y	GRM1_uc010khv.1_Missense_Mutation_p.C746Y|GRM1_uc003qll.2_Missense_Mutation_p.C746Y|GRM1_uc011edz.1_Missense_Mutation_p.C746Y|GRM1_uc011eea.1_Missense_Mutation_p.C746Y	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	746	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TACCTTATCTGCAATACCAGC	0.522													A	146720412	G	A	146720412	3	1	63	1	0	0	0	0	1	0	0	0	6796	1319	46	2	2263	2	GRM1	6	146720412	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	599000	146720412	24394655	674	45407											
C6orf97	80129	broad.mit.edu	37	chr6	151859310	151859310	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctttgagagacagagttcAggaactagaagaagaatcag	11	6	3	6			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:151859310A>G	uc003qol.2	+	3	406	c.317A>G	c.(316-318)CAG>CGG	p.Q106R		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	106	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		GACAGAGTTCAGGAACTAGAA	0.403													G	151859310	A	G	151859310	3	3	63	1	0	0	0	0	1	0	0	0	2374	188	7	3	327	3	C6orf97	6	151859310	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	5138898	151859310	19255757	675	45408											
RSPH3	83861	broad.mit.edu	37	chr6	159403612	159403612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactcacgctgactggcccGcaggttagccagctcttctt	9	14	3	1	rs142857859		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:159403612G>A	uc003qrx.2	-	5	1217	c.1027C>T	c.(1027-1029)CGG>TGG	p.R343W	RSPH3_uc010kju.2_Missense_Mutation_p.R247W|RSPH3_uc003qry.1_Missense_Mutation_p.R343W	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog	343	Potential.									ovary(1)|skin(1)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TGACTGGCCCGCAGGTTAGCC	0.448													A	159403612	G	A	159403612	3	1	63	1	0	0	0	0	1	0	0	0	13705	1086	38	1	671	1	RSPH3	6	159403612	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	7544302	159403612	11711455	676	45409											
PNLDC1	154197	broad.mit.edu	37	chr6	160230161	160230161	+	Frame_Shift_Del	DEL	T	T	-													cagcaaggggtttttctgtcTttttccaaatgctggtgaaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:160230160_160230160CT>C	uc003qsy.1	+	8	792	c.753_753CT>C	c.(751-753)gtcfs	p.V251fs	PNLDC1_uc003qsx.1_Frame_Shift_Del_p.V240fs	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	240						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GTTTTTCTGTCTTTTTCCAAA	0.413													-	160230161	T	-	160230161	7	5	63	1	0	1	0	1	0	0	0	0	12148	1609	56	0	751	0	PNLDC1	6	160230161	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	826549	160230161	10884906	677	45410											
MLLT4	4301	broad.mit.edu	37	chr6	168325729	168325729	+	Frame_Shift_Del	DEL	A	A	-													gaaataatcactgtgaccctAaaaaagcagaatggaatggg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:168325729delA	uc003qwd.2	+	22	3175	c.3033delA	c.(3031-3033)CTAfs	p.L1011fs	MLLT4_uc003qwb.1_Frame_Shift_Del_p.L996fs|MLLT4_uc003qwc.1_Frame_Shift_Del_p.L1012fs|MLLT4_uc003qwg.1_Frame_Shift_Del_p.L321fs	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1012	PDZ.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTGTGACCCTAAAAAAGCAGA	0.423			T	MLL	AL								-	168325729	A	-	168325729	7	5	63	1	0	1	0	1	0	0	0	0	9629	349	13	0	3122	0	MLLT4	6	168325729	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	8095568	168325729	2789338	678	45411											
FAM120B	84498	broad.mit.edu	37	chr6	170627293	170627293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctgtgtcagaccatatatCgaaagttctttacttgtatc	7	8	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:170627293C>T	uc003qxp.2	+	2	923	c.815C>T	c.(814-816)TCG>TTG	p.S272L	FAM120B_uc003qxo.1_Missense_Mutation_p.S272L|FAM120B_uc011ehd.1_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	272					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GACCATATATCGAAAGTTCTT	0.333													T	170627293	C	T	170627293	3	4	63	1	0	0	0	0	1	0	0	0	5417	893	31	1	817	1	FAM120B	6	170627293	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2301564	170627293	487774	679	45412											
UNCX	340260	broad.mit.edu	37	chr7	1273302	1273302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcgaggcgctggcgctgCgcctagacctggtcgagtcc	16	14	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:1273302C>T	uc011jvw.1	+	2	421	c.421C>T	c.(421-423)CGC>TGC	p.R141C		NM_001080461	NP_001073930	A6NJT0	UNC4_HUMAN	UNC homeobox	141	Homeobox.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCTGGCGCTGCGCCTAGACCT	0.667													T	1273302	C	T	1273302	3	4	63	1	0	0	0	0	1	0	0	0	16995	768	27	1	427	1	UNCX	7	1273302	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08		1273302	157865361	680	45413											
INTS1	26173	broad.mit.edu	37	chr7	1535865	1535865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcccagcatcatggacacGgccaggacgtcggtgatgtg	14	11	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:1535865G>A	uc003skn.2	-	12	1739	c.1638C>T	c.(1636-1638)GCC>GCT	p.A546A	INTS1_uc003skp.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	546					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCATGGACACGGCCAGGACGT	0.637													A	1535865	G	A	1535865	2	1	63	1	0	0	0	0	0	0	0	1	7775	1103	39	1		1	INTS1	7	1535865	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	262563	1535865	157602798	681	45414											
NUDT1	4521	broad.mit.edu	37	chr7	2289590	2289590	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagctcatggacgtgcAtgtcttctgcacagacagca	11	12	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:2289590A>G	uc003slp.1	+	4	422	c.320A>G	c.(319-321)CAT>CGT	p.H107R	NUDT1_uc003slq.1_Missense_Mutation_p.H84R|NUDT1_uc003slr.1_Missense_Mutation_p.H84R|NUDT1_uc003sls.1_Missense_Mutation_p.H107R|NUDT1_uc003slt.1_Missense_Mutation_p.H84R|NUDT1_uc003slu.1_Missense_Mutation_p.H107R|NUDT1_uc003slv.1_Missense_Mutation_p.H84R	NM_198949	NP_945187	P36639	8ODP_HUMAN	nudix-type motif 1 isoform p22	125	Nudix hydrolase.				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding				0		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		ATGGACGTGCATGTCTTCTGC	0.637								Direct_reversal_of_damage|Modulation_of_nucleotide_pools					G	2289590	A	G	2289590	3	3	63	1	0	0	0	0	1	0	0	0	10725	217	8	3	330	3	NUDT1	7	2289590	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	753725	2289590	156849073	682	45415											
CHST12	55501	broad.mit.edu	37	chr7	2473447	2473447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctggcctggaggcagcaGctgtataaactctacgaggc	12	13	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:2473447G>A	uc003smc.2	+	2	1308	c.1173G>A	c.(1171-1173)CAG>CAA	p.Q391Q	CHST12_uc003smd.2_Silent_p.Q391Q	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN	carbohydrate sulfotransferase 12	391	Lumenal (Potential).				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			kidney(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GGAGGCAGCAGCTGTATAAAC	0.607													A	2473447	G	A	2473447	2	1	63	1	0	0	0	0	0	0	0	1	3400	962	34	2		2	CHST12	7	2473447	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	183857	2473447	156665216	683	45416											
RADIL	55698	broad.mit.edu	37	chr7	4841484	4841484	+	Frame_Shift_Del	DEL	G	G	-													cacggctgggttgccttccaGggggggcctgtgcccaggga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:4841484delG	uc003snj.1	-	12	2815	c.2642delC	c.(2641-2643)CCTfs	p.P881fs	RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Frame_Shift_Del_p.P386fs|RADIL_uc011jwc.1_Frame_Shift_Del_p.P641fs|RADIL_uc011jwd.1_RNA|RADIL_uc003snh.1_Frame_Shift_Del_p.P177fs	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	881	Pro-rich.				cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TTGCCTTCCAGGGGGGGCCTG	0.726													-	4841484	G	-	4841484	7	5	63	1	0	1	0	1	0	0	0	0	12997	1000	35	0	601	0	RADIL	7	4841484	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	2368037	4841484	154297179	684	45417											
SLC29A4	222962	broad.mit.edu	37	chr7	5336805	5336805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctaccgcgtgcaccacgaCgttgtcgccggggacgtcca	14	15	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:5336805C>T	uc003sod.2	+	7	1019	c.858C>T	c.(856-858)GAC>GAT	p.D286D	SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Silent_p.D286D|SLC29A4_uc003soe.2_Silent_p.D272D|SLC29A4_uc010ksw.2_5'Flank	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (nucleoside	286	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			liver(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		TGCACCACGACGTTGTCGCCG	0.567													T	5336805	C	T	5336805	2	4	63	1	0	0	0	0	0	0	0	1	14537	535	19	1		1	SLC29A4	7	5336805	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	495321	5336805	153801858	685	45418											
FSCN1	6624	broad.mit.edu	37	chr7	5644943	5644943	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtgggcagtgactccgcGgtcaccagcagcggcgacac	15	14	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:5644943G>A	uc003sou.2	+	5	1434	c.1320G>A	c.(1318-1320)GCG>GCA	p.A440A	FSCN1_uc003sov.2_Silent_p.A162A|FSCN1_uc003sow.2_3'UTR	NM_003088	NP_003079	Q16658	FSCN1_HUMAN	fascin 1	440				A -> V (in Ref. 8; AAH06304).	actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			ovary(1)	1		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		GTGACTCCGCGGTCACCAGCA	0.622													A	5644943	G	A	5644943	2	1	63	1	0	0	0	0	0	0	0	1	6067	1103	39	1		1	FSCN1	7	5644943	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	308138	5644943	153493720	686	45419											
AIMP2	7965	broad.mit.edu	37	chr7	6063222	6063222	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtctgtactccagcagaTcggaggctgcagtgtgacag	15	9	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:6063222T>G	uc003spo.2	+	4	976	c.863T>G	c.(862-864)ATC>AGC	p.I288S	EIF2AK1_uc003spp.2_3'UTR|EIF2AK1_uc003spq.2_3'UTR	NM_006303	NP_006294	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting	288	GST C-terminal.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			ovary(1)	1						CTCCAGCAGATCGGAGGCTGC	0.547													G	6063222	T	G	6063222	3	3	63	1	0	0	0	0	1	0	0	0	434	1435	50	5	877	5	AIMP2	7	6063222	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	418279	6063222	153075441	687	45420											
THSD7A	221981	broad.mit.edu	37	chr7	11464332	11464332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttgtcttacctcacttttCgggtttgcacgccctctcca	6	15	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:11464332C>T	uc003ssf.3	-	15	3626	c.3374G>A	c.(3373-3375)CGA>CAA	p.R1125Q		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1125	TSP type-1 11.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTCACTTTTCGGGTTTGCAC	0.483										HNSCC(18;0.044)			T	11464332	C	T	11464332	3	4	63	1	0	0	0	0	1	0	0	0	15876	884	31	1	1651	1	THSD7A	7	11464332	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	5401110	11464332	147674331	688	45421											
TMEM106B	54664	broad.mit.edu	37	chr7	12263867	12263867	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcagaaagctgtatgtgatGgcttctgtgtttgtctgtct	11	6	4	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:12263867G>T	uc011jxk.1	+	5	697	c.297G>T	c.(295-297)ATG>ATT	p.M99I	TMEM106B_uc003ssh.2_Missense_Mutation_p.M99I	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	99	Helical; (Potential).					integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		TGTATGTGATGGCTTCTGTGT	0.388													T	12263867	G	T	12263867	3	4	63	1	0	0	0	0	1	0	0	0	16018	1348	47	5	307	5	TMEM106B	7	12263867	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	799535	12263867	146874796	689	45422											
ITGB8	3696	broad.mit.edu	37	chr7	20449502	20449502	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcttctctattaaggataAgttgattctgcaaagtgttt	7	5	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:20449502A>G	uc003suu.2	+	14	2897	c.2192A>G	c.(2191-2193)AAG>AGG	p.K731R	ITGB8_uc011jyh.1_Missense_Mutation_p.K596R	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	731	Cytoplasmic (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						ATTAAGGATAAGTTGATTCTG	0.333													G	20449502	A	G	20449502	3	3	63	1	0	0	0	0	1	0	0	0	7901	72	3	3	2246	3	ITGB8	7	20449502	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	8185635	20449502	138689161	690	45423											
DNAH11	8701	broad.mit.edu	37	chr7	21583118	21583118	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtatttggaaagcgaggaCaaccggcaggttcttgggga	15	7	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:21583118C>T	uc003svc.2	+	1	286	c.255C>T	c.(253-255)GAC>GAT	p.D85D		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	85	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AAAGCGAGGACAACCGGCAGG	0.627									Kartagener_syndrome				T	21583118	C	T	21583118	2	4	63	1	0	0	0	0	0	0	0	1	4599	477	17	4		4	DNAH11	7	21583118	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1133616	21583118	137555545	691	45424											
DNAH11	8701	broad.mit.edu	37	chr7	21631141	21631141	+	Frame_Shift_Del	DEL	A	A	-													gacaagggtgatttgtttacAaaaaaatacaagttaatcca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:21631141delA	uc003svc.2	+	14	2644	c.2613delA	c.(2611-2613)ACAfs	p.T871fs		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	871	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						ATTTGTTTACAAAAAAATACA	0.468									Kartagener_syndrome				-	21631141	A	-	21631141	7	5	63	1	0	1	0	1	0	0	0	0	4599	117	5	0	2667	0	DNAH11	7	21631141	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	48023	21631141	137507522	692	45425											
DNAH11	8701	broad.mit.edu	37	chr7	21939669	21939670	+	Frame_Shift_Ins	INS	-	-	A													cttgactgctgatgttaccaINSaaaaaacaaaggaagattat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:21939668_21939669C>CA	uc003svc.3	+	81	13285_13286	c.13254_13255C>CA	c.(13252-13257)accaaafs	p.T4418fs		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4418					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGATGTTACCAAAAAAACAAA	0.465									Kartagener syndrome				A	21939670	-	A	21939669	7	5	63	1	0	1	1	0	0	0	0	0	4599	131	5	0	13578	0	DNAH11	7	21939669	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	308528	21939669	137198994	693	45426											
HOXA11	3207	broad.mit.edu	37	chr7	27224538	27224538	+	Frame_Shift_Del	DEL	G	G	-													gcagtgggccagattgccgcGggggtgccatttagtggcgg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:27224537_27224537CG>C	uc003syx.3	-	0	299	c.227_227CG>G	c.(226-228)cgcfs	p.R76fs	HOXA11_uc003syy.3_Non-coding_Transcript|HOXA11-AS_uc003syz.1_5'Flank	NM_005523	NP_005514	P31270	HXA11_HUMAN	Homo sapiens homeobox A11 (HOXA11), mRNA.	76					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						CAGATTGCCGCGGGGGTGCCA	0.657			T	NUP98	CML								-	27224538	G	-	27224538	7	5	63	1	0	1	0	1	0	0	0	0	7290	1116	39	0	723	0	HOXA11	7	27224538	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	5284869	27224538	131914125	694	45427											
CREB5	9586	broad.mit.edu	37	chr7	28848864	28848864	+	Frame_Shift_Del	DEL	G	G	-													tacagccaccccagcccacaGgggggcgccggcgaagggtg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:28848864delG	uc003szq.2	+	9	1477	c.1087delG	c.(1087-1089)GGGfs	p.G363fs	CREB5_uc003szo.2_Frame_Shift_Del_p.G330fs|CREB5_uc003szr.2_Frame_Shift_Del_p.G356fs|CREB5_uc003szs.2_Frame_Shift_Del_p.G224fs	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	363					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						CCAGCCCACAGGGGGGCGCCG	0.627													-	28848864	G	-	28848864	7	5	63	1	0	1	0	1	0	0	0	0	3860	1000	35	0	1172	0	CREB5	7	28848864	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	1624326	28848864	130289799	695	45428											
GARS	2617	broad.mit.edu	37	chr7	30638425	30638425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggctagggagatcttgtgcGaaaactcaaagaagataaag	12	5	2	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:30638425G>A	uc003tbm.2	+	2	593	c.236G>A	c.(235-237)CGA>CAA	p.R79Q		NM_002047	NP_002038	P41250	SYG_HUMAN	glycyl-tRNA synthetase	79	WHEP-TRS.				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			ovary(1)	1					Glycine(DB00145)	GATCTTGTGCGAAAACTCAAA	0.423													A	30638425	G	A	30638425	3	1	63	1	0	0	0	0	1	0	0	0	6242	1058	37	1	242	1	GARS	7	30638425	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1789561	30638425	128500238	696	45429											
ELMO1	9844	broad.mit.edu	37	chr7	37298811	37298811	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgctctccaccatctgcgTgaggagagagataccgtcca	11	14	2	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:37298811T>G	uc003tfk.1	-	6	695	c.388A>C	c.(388-390)ACG>CCG	p.T130P	ELMO1_uc011kbc.1_Missense_Mutation_p.T34P|ELMO1_uc010kxg.1_Missense_Mutation_p.T130P	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	130					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						ACCATCTGCGTGAGGAGAGAG	0.517													G	37298811	T	G	37298811	3	3	63	1	0	0	0	0	1	0	0	0	5065	1696	59	5	1863	5	ELMO1	7	37298811	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	6660386	37298811	121839852	697	45430											
INHBA	3624	broad.mit.edu	37	chr7	41739849	41739849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtacatcctttgggagggCggccagcgcacaggacggac	17	11	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:41739849C>T	uc003thq.2	-	1	359	c.124G>A	c.(124-126)GCC>ACC	p.A42T	LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Missense_Mutation_p.A42T|LOC285954_uc003ths.2_Intron	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	42					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			lung(5)|ovary(1)	6						TTTGGGAGGGCGGCCAGCGCA	0.572										TSP Lung(11;0.080)			T	41739849	C	T	41739849	3	4	63	1	0	0	0	0	1	0	0	0	7741	768	27	1	1164	1	INHBA	7	41739849	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4441038	41739849	117398814	698	45431											
GLI3	2737	broad.mit.edu	37	chr7	42004496	42004496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcatagcctggcgcctgCtgcccccaaagctggcacat	11	16	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:42004496C>T	uc011kbh.1	-	15	4266	c.4175G>A	c.(4174-4176)AGC>AAC	p.S1392N	GLI3_uc011kbg.1_Missense_Mutation_p.S1333N	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1392					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CTGGCGCCTGCTGCCCCCAAA	0.622									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42004496	C	T	42004496	3	4	63	1	0	0	0	0	1	0	0	0	6439	797	28	2	571	2	GLI3	7	42004496	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	264647	42004496	117134167	699	45432											
C7orf25	79020	broad.mit.edu	37	chr7	42949407	42949407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggcttttagggtgtctcCcgtcccaaaaattgttaatg	10	8	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:42949407C>T	uc003thw.2	-	2	1557	c.1093G>A	c.(1093-1095)GGA>AGA	p.G365R	C7orf25_uc010kxq.2_Missense_Mutation_p.G365R|C7orf25_uc003thx.3_Missense_Mutation_p.G423R|C7orf25_uc010kxr.2_Missense_Mutation_p.G423R	NM_024054	NP_076959	Q9BPX7	CG025_HUMAN	hypothetical protein LOC79020 b	365										skin(1)	1						AGGGTGTCTCCCGTCCCAAAA	0.438													T	42949407	C	T	42949407	3	4	63	1	0	0	0	0	1	0	0	0	2380	632	22	4	176	4	C7orf25	7	42949407	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	944911	42949407	116189256	700	45433											
DBNL	28988	broad.mit.edu	37	chr7	44091460	44091460	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggagatggtggaggagctCaacagcgggaaggtgatgta	19	4	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:44091460C>T	uc003tjp.3	+	3	269	c.171C>T	c.(169-171)CTC>CTT	p.L57L	DBNL_uc003tjn.2_Intron|DBNL_uc003tjo.3_Silent_p.L57L|DBNL_uc003tjr.3_Intron|DBNL_uc003tjq.3_Silent_p.L57L|DBNL_uc011kbm.1_Silent_p.L57L|DBNL_uc011kbn.1_Intron|DBNL_uc011kbo.1_Intron|DBNL_uc011kbp.1_Silent_p.L57L|DBNL_uc011kbq.1_Intron|DBNL_uc011kbr.1_Silent_p.L5L|DBNL_uc011kbs.1_5'Flank	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	drebrin-like isoform b	57	ADF-H.				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			skin(1)	1						TGGAGGAGCTCAACAGCGGGA	0.577													T	44091460	C	T	44091460	2	4	63	1	0	0	0	0	0	0	0	1	4255	813	29	4		4	DBNL	7	44091460	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1142053	44091460	115047203	701	45434											
NPC1L1	29881	broad.mit.edu	37	chr7	44579933	44579933	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggatggttgtgtaaggctcActctgggcctgcagagcaca	14	9	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:44579933A>G	uc003tlb.2	-	2	119	c.63T>C	c.(61-63)AGT>AGC	p.S21S	NPC1L1_uc003tlc.2_Silent_p.S21S|NPC1L1_uc011kbw.1_Silent_p.S21S|NPC1L1_uc003tld.2_Silent_p.S21S	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	21					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	TGTAAGGCTCACTCTGGGCCT	0.597													G	44579933	A	G	44579933	2	3	63	1	0	0	0	0	0	0	0	1	10571	156	6	3		3	NPC1L1	7	44579933	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	488473	44579933	114558730	702	45435											
CCM2	83605	broad.mit.edu	37	chr7	45115439	45115439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacttcctggagaccattgGcgtgaaggatggccgcggca	15	10	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:45115439G>A	uc003tmo.2	+	10	1264	c.1118G>A	c.(1117-1119)GGC>GAC	p.G373D	CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Missense_Mutation_p.G315D|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Missense_Mutation_p.G282D|CCM2_uc003tms.2_Missense_Mutation_p.G394D	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 2	373					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0						GAGACCATTGGCGTGAAGGAT	0.602									Familial_Cerebral_Cavernous_Angioma				A	45115439	G	A	45115439	3	1	63	1	0	0	0	0	1	0	0	0	2908	1203	42	2	1253	2	CCM2	7	45115439	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	535506	45115439	114023224	703	45436											
ADCY1	107	broad.mit.edu	37	chr7	45743274	45743274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttcaatgacttctacatcGagctggacggcaacaacatg	8	11	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:45743274G>A	uc003tne.3	+	16	2665	c.2647G>A	c.(2647-2649)GAG>AAG	p.E883K		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	883	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTTCTACATCGAGCTGGACGG	0.567													A	45743274	G	A	45743274	3	1	63	1	0	0	0	0	1	0	0	0	292	1059	37	1	2709	1	ADCY1	7	45743274	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	627835	45743274	113395389	704	45437											
CRCP	27297	broad.mit.edu	37	chr7	65610438	65610438	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccctccacagagctgagaAgctccagctgctgaaccacc	8	16	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:65610438A>G	uc003tus.2	+	5	393	c.248A>G	c.(247-249)AAG>AGG	p.K83R	CRCP_uc003tuv.2_RNA|CRCP_uc011kdw.1_Missense_Mutation_p.K76R|CRCP_uc003tut.2_Missense_Mutation_p.K50R|CRCP_uc003tuu.2_Missense_Mutation_p.K6R	NM_014478	NP_055293	O75575	RPC9_HUMAN	calcitonin gene-related peptide-receptor	83					acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA polymerase III complex|nucleus|plasma membrane	calcitonin receptor activity|DNA-directed RNA polymerase activity|nucleotide binding				0						AGAGCTGAGAAGCTCCAGCTG	0.547													G	65610438	A	G	65610438	3	3	63	1	0	0	0	0	1	0	0	0	3852	72	3	3	356	3	CRCP	7	65610438	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	19867164	65610438	93528225	705	45438											
ELN	2006	broad.mit.edu	37	chr7	73462849	73462849	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggttggcccccaggcAgcagcagcagcggcagctaa	15	14	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:73462849A>G	uc003tzw.2	+	15	853	c.762A>G	c.(760-762)GCA>GCG	p.A254A	RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_Intron|ELN_uc011kfe.1_Silent_p.A223A|ELN_uc003tzn.2_Silent_p.A254A|ELN_uc003tzz.2_Silent_p.A218A|ELN_uc003tzo.2_Silent_p.A240A|ELN_uc003tzp.2_Silent_p.A210A|ELN_uc003tzq.2_Silent_p.A137A|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Silent_p.A254A|ELN_uc003tzt.2_Silent_p.A259A|ELN_uc003tzu.2_Silent_p.A259A|ELN_uc003tzv.2_Silent_p.A244A|ELN_uc003tzx.2_Silent_p.A244A|ELN_uc011kff.1_Silent_p.A254A|ELN_uc003tzy.2_Silent_p.A249A	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	254	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GCCCCCAGgcagcagcagcag	0.517			T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome						G	73462849	A	G	73462849	2	3	63	1	0	0	0	0	0	0	0	1	5071	175	7	3		3	ELN	7	73462849	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	7852411	73462849	85675814	706	45439											
CLIP2	7461	broad.mit.edu	37	chr7	73790832	73790832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagctggctgggctgcagCggcactggcgggcccagctg	19	12	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:73790832C>T	uc003uam.2	+	10	2428	c.2101C>T	c.(2101-2103)CGG>TGG	p.R701W	CLIP2_uc003uan.2_Missense_Mutation_p.R666W|CLIP2_uc003uao.2_Missense_Mutation_p.R95W	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	701	Potential.					microtubule associated complex				skin(3)	3						TGGGCTGCAGCGGCACTGGCG	0.697													T	73790832	C	T	73790832	3	4	63	1	0	0	0	0	1	0	0	0	3533	759	27	1	2135	1	CLIP2	7	73790832	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	327983	73790832	85347831	707	45440											
SPDYE5	442590	broad.mit.edu	37	chr7	75130956	75130956	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcgtcggttccagttaggCcgttccatgaacctgagggc	13	11	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:75130956C>T	uc011kfy.1	+	6	967	c.831C>T	c.(829-831)GGC>GGT	p.G277G		NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	speedy homolog E5	277	Arg-rich.										0						TCCAGTTAGGCCGTTCCATGA	0.577													T	75130956	C	T	75130956	2	4	63	1	0	0	0	0	0	0	0	1	15031	726	26	2		2	SPDYE5	7	75130956	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1340124	75130956	84007707	708	45441											
POR	5447	broad.mit.edu	37	chr7	75614451	75614451	+	Frame_Shift_Del	DEL	C	C	-													aggactgcccgtccctgcggCcccccatcgaccacctgtgt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:75614451delC	uc003udy.2	+	12	1406	c.1324delC	c.(1324-1326)CCCfs	p.P442fs	POR_uc011kgc.1_Frame_Shift_Del_p.P250fs|POR_uc011kgd.1_Frame_Shift_Del_p.P341fs|POR_uc011kge.1_Frame_Shift_Del_p.P180fs|POR_uc003uea.2_5'Flank	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	439	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	GTCCCTGCGGCCCCCCATCGA	0.682													-	75614451	C	-	75614451	7	5	63	1	0	1	0	1	0	0	0	0	12257	739	26	0	1366	0	POR	7	75614451	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	483495	75614451	83524212	709	45442											
PHTF2	57157	broad.mit.edu	37	chr7	77569581	77569582	+	Frame_Shift_Ins	INS	-	-	T													gtctcttgtgtggattttctINStttttttgctctgtgtagca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:77569580_77569581C>CT	uc003ugs.4	+	12	1827_1828	c.1701_1702C>CT	c.(1699-1704)ttctttfs	p.F567fs	PHTF2_uc003ugp.3_Frame_Shift_Ins_p.F529fs|PHTF2_uc010ldv.3_Frame_Shift_Ins_p.F529fs|PHTF2_uc003ugq.4_Frame_Shift_Ins_p.F529fs|PHTF2_uc003ugt.4_Frame_Shift_Ins_p.F533fs|PHTF2_uc003ugu.4_Frame_Shift_Ins_p.F529fs|PHTF2_uc022agp.1_Frame_Shift_Ins_p.F567fs|PHTF2_uc010ldw.2_Frame_Shift_Ins_p.F349fs	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA.	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TGTGGATTTTCTTTTTTTTGCT	0.307													T	77569582	-	T	77569581	7	5	63	1	0	1	1	0	0	0	0	0	11863	1609	56	0	1700	0	PHTF2	7	77569581	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1955130	77569581	81569082	710	45443											
PCLO	27445	broad.mit.edu	37	chr7	82476473	82476473	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acagtcttacacatatttctGcttccccactttgctgacta	4	13	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:82476473G>C	uc003uhx.2	-	11	14034	c.13745C>G	c.(13744-13746)GCA>GGA	p.A4582G	PCLO_uc003uhv.2_Missense_Mutation_p.A4582G|PCLO_uc003uht.1_Missense_Mutation_p.A33G|PCLO_uc003uhu.1_Missense_Mutation_p.Q15E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4470	PDZ.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ACATATTTCTGCTTCCCCACT	0.358													C	82476473	G	C	82476473	3	2	63	1	0	0	0	0	1	0	0	0	11583	1319	46	5	1760	5	PCLO	7	82476473	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	4906892	82476473	76662190	711	45444											
PCLO	27445	broad.mit.edu	37	chr7	82546109	82546111	+	In_Frame_Del	DEL	CTC	CTC	-													gattgagttcctgtggaaatCtcctcaggaggtggatttgg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:82546108_82546110TCTC>T	uc003uhx.2	-	6	11481_11483	c.11192_11194GAGA>A	c.(11191-11196)gagatt>gAtt	p.3731_3732EI>D	PCLO_uc003uhv.2_In_Frame_Del_p.3731_3732EI>D|PCLO_uc010lec.3_In_Frame_Del_p.696_697EI>D	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3662					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCTGTGGAAATCTCCTCAGGAGG	0.438													-	82546111	CTC	-	82546109	7	5	63	1	0	1	0	1	0	0	0	0	11583	912	32	0	4328	0	PCLO	7	82546109	In_Frame_Del	DEL	CTC	TCGA-BR-8078-01A-11D-2340-08	69636	82546109	76592554	712	45445											
ADAM22	53616	broad.mit.edu	37	chr7	87564383	87564383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaagaggaaggaaaaccGcttcgtggagcgccagagca	15	8	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:87564383G>A	uc003ujn.2	+	2	207	c.128G>A	c.(127-129)CGC>CAC	p.R43H	ADAM22_uc003uji.1_Missense_Mutation_p.R42H|ADAM22_uc003ujj.1_Missense_Mutation_p.R43H|ADAM22_uc003ujk.1_Missense_Mutation_p.R43H|ADAM22_uc003ujl.1_Missense_Mutation_p.R43H|ADAM22_uc003ujm.2_Missense_Mutation_p.R43H|ADAM22_uc003ujo.2_Missense_Mutation_p.R43H|ADAM22_uc003ujp.1_Missense_Mutation_p.R95H	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	43					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AAGGAAAACCGCTTCGTGGAG	0.612													A	87564383	G	A	87564383	3	1	63	1	0	0	0	0	1	0	0	0	244	1087	38	1	134	1	ADAM22	7	87564383	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	5018274	87564383	71574280	713	45446											
FZD1	8321	broad.mit.edu	37	chr7	90894984	90894984	+	Frame_Shift_Del	DEL	G	G	-													gggcaccgtggcggcttcccGgggggcgccggcgcgtcgga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:90894984delG	uc003ula.2	+	1	1202	c.789delG	c.(787-789)CCGfs	p.P263fs		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	263	Extracellular (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GCGGCTTCCCGGGGGGCGCCG	0.697													-	90894984	G	-	90894984	7	5	63	1	0	1	0	1	0	0	0	0	6128	1103	39	0	791	0	FZD1	7	90894984	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	3330601	90894984	68243679	714	45447											
AKAP9	10142	broad.mit.edu	37	chr7	91651608	91651608	+	Frame_Shift_Del	DEL	A	A	-													tttggagaagaaaaccttccAaaagaggaaacagagttttt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:91651607_91651607CA>C	uc003ulg.3	+	12	4118	c.3893_3893CA>C	c.(3892-3894)ccafs	p.P1298fs	AKAP9_uc003ule.2_Frame_Shift_Del_p.P1310fs|AKAP9_uc003ulf.3_Frame_Shift_Del_p.P1298fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.P923fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1310					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAAACCTTCCAAAAGAGGAA	0.338			T	BRAF	papillary thyroid								-	91651608	A	-	91651608	7	5	63	1	0	1	0	1	0	0	0	0	459	117	5	0	3944	0	AKAP9	7	91651608	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	756624	91651608	67487055	715	45448											
CYP51A1	1595	broad.mit.edu	37	chr7	91743137	91743138	+	Frame_Shift_Ins	INS	-	-	C													tgaacataggcaaaattttcINScccaatacaacgatgacgcc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:91743136_91743137T>TC	uc003ulm.4	-	9	1534_1535	c.1372_1373A>GA	c.(1372-1374)gaafs	p.E458fs	CYP51A1_uc011khn.2_Frame_Shift_Ins_p.E353fs|CYP51A1_uc003uln.4_Frame_Shift_Ins_p.E395fs	NM_000786	NP_001139624	Q16850	CP51A_HUMAN	Homo sapiens cytochrome P450, family 51, subfamily A, polypeptide 1 (CYP51A1), transcript variant 1, mRNA.	452					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	GGCAAAATTTTCCCCAATACAA	0.317													C	91743138	-	C	91743137	7	5	63	1	0	1	1	0	0	0	0	0	4195	864	30	0	161	0	CYP51A1	7	91743137	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	91529	91743137	67395526	716	45449											
PEX1	5189	broad.mit.edu	37	chr7	92146640	92146640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttttggtatatttgatggCattgttcaattcttcaagtc	7	5	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:92146640C>T	uc003uly.2	-	5	1285	c.1189G>A	c.(1189-1191)GCC>ACC	p.A397T	PEX1_uc011khr.1_Missense_Mutation_p.A189T|PEX1_uc010ley.2_Missense_Mutation_p.A397T|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	397					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TATTTGATGGCATTGTTCAAT	0.348													T	92146640	C	T	92146640	3	4	63	1	0	0	0	0	1	0	0	0	11735	710	25	2	2742	2	PEX1	7	92146640	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	403503	92146640	66992023	717	45450											
TAC1	6863	broad.mit.edu	37	chr7	97362035	97362035	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtccgactggtacgacagCgaccagatcaaggtgaggcc	14	11	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:97362035C>T	uc003uop.3	+	2	357	c.111C>T	c.(109-111)AGC>AGT	p.S37S	TAC1_uc003uoq.3_Silent_p.S37S|TAC1_uc003uor.3_Silent_p.S37S|TAC1_uc003uos.3_Silent_p.S37S	NM_003182	NP_003173	P20366	TKN1_HUMAN	tachykinin 1 isoform beta precursor	37					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space					0	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	GGTACGACAGCGACCAGATCA	0.552													T	97362035	C	T	97362035	2	4	63	1	0	0	0	0	0	0	0	1	15495	767	27	1		1	TAC1	7	97362035	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	5215395	97362035	61776628	718	45451											
ASNS	440	broad.mit.edu	37	chr7	97488171	97488171	+	Frame_Shift_Del	DEL	A	A	-													tttaattgacttcacctgatAaaaggcagccaatccttctg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:97488170_97488170TA>T	uc003uot.4	-	5	1277	c.771_771TA>A	c.(769-771)ttafs	p.L257fs	ASNS_uc011kin.2_Frame_Shift_Del_p.L174fs|ASNS_uc011kio.2_Frame_Shift_Del_p.L236fs|ASNS_uc003uou.4_Frame_Shift_Del_p.L257fs|ASNS_uc003uov.4_Frame_Shift_Del_p.L257fs|ASNS_uc003uox.4_Frame_Shift_Del_p.L174fs	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	257	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	ATP binding|asparagine synthase (glutamine-hydrolyzing) activity			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTTCACCTGATAAAAGGCAGC	0.313													-	97488171	A	-	97488171	7	5	63	1	0	1	0	1	0	0	0	0	1048	372	13	0	947	0	ASNS	7	97488171	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	126136	97488171	61650492	719	45452											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99103706	99103706	+	Frame_Shift_Del	DEL	C	C	-													cgagaagttatagacttagaCcccccagctgagacttccca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:99103705_99103705AC>A	uc003uqv.3	+	1	162	c.38_38AC>A	c.(37-39)gacfs	p.D13fs	ZKSCAN5_uc010lfx.3_Frame_Shift_Del_p.D13fs|ZKSCAN5_uc003uqw.3_Frame_Shift_Del_p.D13fs|ZKSCAN5_uc003uqx.3_Frame_Shift_Del_p.D13fs|ZKSCAN5_uc003uqy.3_5'UTR	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	13					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ATAGACTTAGACCCCCCAGCT	0.483													-	99103706	C	-	99103706	7	5	63	1	0	1	0	1	0	0	0	0	17687	506	18	0	41	0	ZKSCAN5	7	99103706	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	1615535	99103706	60034957	720	45453											
ZNF498	221785	broad.mit.edu	37	chr7	99227411	99227411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagtgtggcaagagcttcaGcaggaatgccaatctggcgg	15	9	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:99227411G>A	uc003url.1	+	8	1730	c.1403G>A	c.(1402-1404)AGC>AAC	p.S468N	ZNF498_uc003urm.1_Missense_Mutation_p.S304N|ZNF498_uc010lge.1_Missense_Mutation_p.S304N|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Missense_Mutation_p.S396N|ZNF498_uc003uro.1_Missense_Mutation_p.S252N	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	468	C2H2-type 5.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AAGAGCTTCAGCAGGAATGCC	0.647													A	99227411	G	A	99227411	3	1	63	1	0	0	0	0	1	0	0	0	17944	971	34	2	1421	2	ZNF498	7	99227411	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	123705	99227411	59911252	721	45454											
GPC2	221914	broad.mit.edu	37	chr7	99771554	99771554	+	Frame_Shift_Del	DEL	C	C	-													gcagggcataagtgaggggaCcccccggcacaggggacagc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:99771553_99771553AC>A	uc003utv.3	-	4	965	c.797_797GT>T	c.(796-798)gtcfs	p.V266fs	GPC2_uc010lgr.3_Intron|GPC2_uc003utw.1_3'UTR	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	Homo sapiens glypican 2 (GPC2), mRNA.	266						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.V266V(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAGTGAGGGGACCCCCCGGCA	0.647													-	99771554	C	-	99771554	7	5	63	1	0	1	0	1	0	0	0	0	6598	507	18	0	967	0	GPC2	7	99771554	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	544143	99771554	59367109	722	45455											
MEPCE	56257	broad.mit.edu	37	chr7	100028980	100028980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggtttcggggccgggacGtcctagatctgggctgcaat	16	9	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:100028980G>A	uc003uuw.2	+	1	1452	c.1339G>A	c.(1339-1341)GTC>ATC	p.V447I	ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	bin3, bicoid-interacting 3	447	Bin3-type SAM.						methyltransferase activity			upper_aerodigestive_tract(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGCCGGGACGTCCTAGATCT	0.582													A	100028980	G	A	100028980	3	1	63	1	0	0	0	0	1	0	0	0	9477	1145	40	1	1341	1	MEPCE	7	100028980	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	257426	100028980	59109683	723	45456											
ZAN	7455	broad.mit.edu	37	chr7	100355909	100355909	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgagtgccagatctctcagTgtgggacacacaccgtgtgc	12	12	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:100355909T>C	uc003uwj.2	+	16	3559	c.3394T>C	c.(3394-3396)TGT>CGT	p.C1132R	ZAN_uc003uwk.2_Missense_Mutation_p.C1132R|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1132	VWFC 1.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GATCTCTCAGTGTGGGACACA	0.622													C	100355909	T	C	100355909	3	2	63	1	0	0	0	0	1	0	0	0	17510	1696	59	3	3452	3	ZAN	7	100355909	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	326929	100355909	58782754	724	45457											
MUC17	140453	broad.mit.edu	37	chr7	100675194	100675194	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacaatggcttttgtcagcaCtgcacctcttcccagttttg	7	12	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:100675194C>A	uc003uxp.1	+	3	550	c.497C>A	c.(496-498)ACT>AAT	p.T166N	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	166	Extracellular (Potential).|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TTTGTCAGCACTGCACCTCTT	0.453													A	100675194	C	A	100675194	3	1	63	1	0	0	0	0	1	0	0	0	9974	565	20	5	507	5	MUC17	7	100675194	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	319285	100675194	58463469	725	45458											
MUC17	140453	broad.mit.edu	37	chr7	100680858	100680858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtatgcctgtcagcactaCgcttgtggtcagttctgagg	13	9	3	1	rs140147544	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:100680858C>T	uc003uxp.1	+	3	6214	c.6161C>T	c.(6160-6162)ACG>ATG	p.T2054M	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2054	Extracellular (Potential).|32.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGCACTACGCTTGTGGTC	0.493													T	100680858	C	T	100680858	3	4	63	1	0	0	0	0	1	0	0	0	9974	536	19	1	6171	1	MUC17	7	100680858	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	5664	100680858	58457805	726	45459											
TRIM56	81844	broad.mit.edu	37	chr7	100731710	100731710	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcggctgtcctttgaggagCagcagccccagaaggatggt	14	10	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:100731710C>G	uc003uxq.2	+	3	1348	c.1117C>G	c.(1117-1119)CAG>GAG	p.Q373E	TRIM56_uc003uxr.2_Intron	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	373					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTTGAGGAGCAGCAGCCCCA	0.647													G	100731710	C	G	100731710	3	3	63	1	0	0	0	0	1	0	0	0	16527	711	25	5	1119	5	TRIM56	7	100731710	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	50852	100731710	58406953	727	45460											
C7orf52	375607	broad.mit.edu	37	chr7	100816741	100816741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctcccagggcgccacgcGcagcccctccaccagcaccg	11	22	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:100816741G>A	uc003uxy.1	-	3	612	c.373C>T	c.(373-375)CGC>TGC	p.R125C	C7orf52_uc003uxz.1_Missense_Mutation_p.R125C	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN	hypothetical protein LOC375607	125	N-acetyltransferase.						N-acetyltransferase activity			ovary(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)					GGCGCCACGCGCAGCCCCTCC	0.731													A	100816741	G	A	100816741	3	1	63	1	0	0	0	0	1	0	0	0	2401	1087	38	1	744	1	C7orf52	7	100816741	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	85031	100816741	58321922	728	45461											
LRRC17	10234	broad.mit.edu	37	chr7	102574474	102574474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggccgggcgggtggaggCcggagaggctccaacccggt	19	12	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:102574474C>T	uc003vau.2	+	2	503	c.114C>T	c.(112-114)GGC>GGT	p.G38G	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_Silent_p.G38G	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17 isoform 1	38					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				ovary(1)	1						CGGGTGGAGGCCGGAGAGGCT	0.537													T	102574474	C	T	102574474	2	4	63	1	0	0	0	0	0	0	0	1	8973	726	26	2		2	LRRC17	7	102574474	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1757733	102574474	56564189	729	45462											
NAPEPLD	222236	broad.mit.edu	37	chr7	102769242	102769242	+	Splice_Site	DEL	A	A	-													atgtcctttggtgaagaactAaaaaaaacaagggggaaaaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:102769241_102769241TA>T	uc011klj.1	-	2	283	c.204_splice	c.e2-1	p.S68_splice	NAPEPLD_uc003vbd.2_Splice_Site|NAPEPLD_uc003vbc.2_Splice_Site|NAPEPLD_uc003vbe.2_Splice_Site|NAPEPLD_uc003vbf.3_Intron	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	Homo sapiens N-acyl phosphatidylethanolamine phospholipase D (NAPEPLD), transcript variant 2, mRNA.	0					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGTGAAGAACTAAAAAAAACA	0.338													-	102769242	A	-	102769242	8	5	63	1	0	1	0	1	0	0	1	0	10163	377	13	0		0	NAPEPLD	7	102769242	Splice_Site	DEL	A	TCGA-BR-8078-01A-11D-2340-08	194768	102769242	56369421	730	45463											
RELN	5649	broad.mit.edu	37	chr7	103183268	103183268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccactagaaaggattccaCactttcgagatggtttccca	7	11	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:103183268C>T	uc003vca.2	-	43	6741	c.6581G>A	c.(6580-6582)TGT>TAT	p.C2194Y	RELN_uc010liz.2_Missense_Mutation_p.C2194Y	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2194					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGGATTCCACACTTTCGAGA	0.383													T	103183268	C	T	103183268	3	4	63	1	0	0	0	0	1	0	0	0	13220	478	17	4	3893	4	RELN	7	103183268	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	414026	103183268	55955395	731	45464											
RINT1	60561	broad.mit.edu	37	chr7	105182902	105182902	+	Frame_Shift_Del	DEL	A	A	-													aaaagaattcgaagtgccttAaaaaatgcagaagaatcaaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:105182901_105182901TA>T	uc003vda.1	+	3	551	c.320_320TA>T	c.(319-321)ttafs	p.L107fs	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	107					G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CGAAGTGCCTTAAAAAATGCA	0.353													-	105182902	A	-	105182902	7	5	63	1	0	1	0	1	0	0	0	0	13376	359	13	0	335	0	RINT1	7	105182902	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	1999634	105182902	53955761	732	45465											
GPR22	2845	broad.mit.edu	37	chr7	107115558	107115558	+	Frame_Shift_Del	DEL	T	T	-													ttagtaaaattaagattgtgTtttttagtcatggcttatgg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:107115557_107115557GT>G	uc003vef.3	+	2	2398	c.1052_1052GT>G	c.(1051-1053)tgtfs	p.C351fs	COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron|GPR22_uc022ajv.1_Frame_Shift_Del_p.C351fs	NM_005295	NP_005286	Q99680	GPR22_HUMAN	Homo sapiens G protein-coupled receptor 22 (GPR22), mRNA.	351						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						TTAAGATTGTGTTTTTTAGTC	0.299													-	107115558	T	-	107115558	7	5	63	1	0	1	0	1	0	0	0	0	6682	1731	60	0	1055	0	GPR22	7	107115558	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	1932656	107115558	52023105	733	45466											
BCAP29	55973	broad.mit.edu	37	chr7	107253787	107253787	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tattttctagccctttctaaGgcacaaaatgatgtgatgga	8	7	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:107253787G>T	uc003vej.2	+	7	939	c.600G>T	c.(598-600)AAG>AAT	p.K200N	BCAP29_uc011kly.1_Missense_Mutation_p.K106N|BCAP29_uc011klz.1_Missense_Mutation_p.K200N|BCAP29_uc011kma.1_Missense_Mutation_p.K200N	NM_018844	NP_061332	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein BAP29 isoform	200	Cytoplasmic (Potential).				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				large_intestine(1)|ovary(1)	2						CCCTTTCTAAGGCACAAAATG	0.254													T	107253787	G	T	107253787	3	4	63	1	0	0	0	0	1	0	0	0	1346	991	35	5	622	5	BCAP29	7	107253787	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	138229	107253787	51884876	734	45467											
SLC26A4	5172	broad.mit.edu	37	chr7	107323940	107323940	+	Frame_Shift_Del	DEL	A	A	-													ttcatatggagccaacctggAaaaaaattacaatgctggca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:107323939_107323939GA>G	uc003vep.3	+	7	1182	c.958_958GA>G	c.(958-960)gaafs	p.E320fs		NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	320					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	p.E320K(2)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AGCCAACCTGGAAAAAAATTA	0.348									Pendred syndrome				-	107323940	A	-	107323940	7	5	63	1	0	1	0	1	0	0	0	0	14519	246	9	0	985	0	SLC26A4	7	107323940	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	70153	107323940	51814723	735	45468											
LAMB1	3912	broad.mit.edu	37	chr7	107594141	107594142	+	Frame_Shift_Ins	INS	-	-	C													actggcaaggctgacacgacINScccccaacttctgatggatt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:107594140_107594141A>AC	uc003vev.2	-	19	3146_3147	c.2985_2986T>GT	c.(2983-2988)gggtcgfs	p.G995fs	LAMB1_uc003vew.2_Frame_Shift_Ins_p.G971fs	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	971	Laminin EGF-like 10.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTGACACGACCCCCCAACTT	0.505													C	107594142	-	C	107594141	7	5	63	1	0	1	1	0	0	0	0	0	8610	494	18	0	2499	0	LAMB1	7	107594141	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	270201	107594141	51544522	736	45469											
PNPLA8	50640	broad.mit.edu	37	chr7	108112874	108112874	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaaaagaatggaagtccttCatacatatcagtttttaatt	6	5	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:108112874C>T	uc003vff.1	-	12	2727	c.2320G>A	c.(2320-2322)GAA>AAA	p.E774K	PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.E774K|PNPLA8_uc003vfi.1_Missense_Mutation_p.E674K|PNPLA8_uc003vfj.1_Missense_Mutation_p.E774K|PNPLA8_uc003vfk.1_Missense_Mutation_p.E674K	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	774					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(2)	2						GGAAGTCCTTCATACATATCA	0.269													T	108112874	C	T	108112874	3	4	63	1	0	0	0	0	1	0	0	0	12171	835	29	4	32	4	PNPLA8	7	108112874	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	518733	108112874	51025789	737	45470											
DOCK4	9732	broad.mit.edu	37	chr7	111368509	111368509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggggcgccgcagagtccGctcgtagacgctgtacgggg	18	12	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:111368509G>A	uc003vfx.2	-	52	5991	c.5722C>T	c.(5722-5724)CGG>TGG	p.R1908W	DOCK4_uc011kml.1_Missense_Mutation_p.R789W|DOCK4_uc011kmm.1_Missense_Mutation_p.R777W|DOCK4_uc003vfw.2_Missense_Mutation_p.R1320W|DOCK4_uc003vfy.2_Missense_Mutation_p.R1953W|DOCK4_uc003vfv.2_Missense_Mutation_p.R221W	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1908	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				CGCAGAGTCCGCTCGTAGACG	0.731													A	111368509	G	A	111368509	3	1	63	1	0	0	0	0	1	0	0	0	4689	1086	38	1	182	1	DOCK4	7	111368509	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3255635	111368509	47770154	738	45471											
DOCK4	9732	broad.mit.edu	37	chr7	111368582	111368582	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccgccgtagctcggcacGggcaccggcactggcaccgg	14	18	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:111368582G>A	uc003vfx.2	-	52	5918	c.5649C>T	c.(5647-5649)CCC>CCT	p.P1883P	DOCK4_uc011kml.1_Silent_p.P764P|DOCK4_uc011kmm.1_Silent_p.P752P|DOCK4_uc003vfw.2_Silent_p.P1295P|DOCK4_uc003vfy.2_Silent_p.P1928P|DOCK4_uc003vfv.2_Silent_p.P196P	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1883	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				AGCTCGGCACGGGCACCGGCA	0.657													A	111368582	G	A	111368582	2	1	63	1	0	0	0	0	0	0	0	1	4689	1103	39	1		1	DOCK4	7	111368582	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	73	111368582	47770081	739	45472											
DOCK4	9732	broad.mit.edu	37	chr7	111409726	111409726	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatataagaggagggtataTgcagcttctgcaagtcacgt	11	7	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:111409726T>C	uc003vfx.2	-	36	3929	c.3660A>G	c.(3658-3660)GCA>GCG	p.A1220A	DOCK4_uc011kml.1_Silent_p.A101A|DOCK4_uc011kmm.1_Silent_p.A127A|DOCK4_uc003vfw.2_Silent_p.A670A|DOCK4_uc003vfy.2_Silent_p.A1265A	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1220	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				GGAGGGTATATGCAGCTTCTG	0.502													C	111409726	T	C	111409726	2	2	63	1	0	0	0	0	0	0	0	1	4689	1451	51	3		3	DOCK4	7	111409726	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	41144	111409726	47728937	740	45473											
DOCK4	9732	broad.mit.edu	37	chr7	111580273	111580273	+	Frame_Shift_Del	DEL	T	T	-													actggacactacaggcattcTttttttctcctgctcccatt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:111580272_111580272CT>C	uc003vfy.3	-	10	1139	c.870_870AG>G	c.(868-870)aagfs	p.K290fs	DOCK4_uc003vfx.3_Frame_Shift_Del_p.K290fs|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Frame_Shift_Del_p.K290fs	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	290					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TACAGGCATTCTTTTTTTCTC	0.453													-	111580273	T	-	111580273	7	5	63	1	0	1	0	1	0	0	0	0	4689	1609	56	0	5199	0	DOCK4	7	111580273	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	170547	111580273	47558390	741	45474											
IFRD1	3475	broad.mit.edu	37	chr7	112112339	112112340	+	Frame_Shift_Ins	INS	-	-	A													tgtatattgattgctgggtaINSaaaaaacacacctatgacac							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:112112338_112112339T>TA	uc003vgh.3	+	10	1576_1577	c.1106_1107T>TA	c.(1105-1107)gtafs	p.V369fs	IFRD1_uc011kmn.2_Frame_Shift_Ins_p.V319fs|IFRD1_uc003vgj.3_Frame_Shift_Ins_p.V369fs|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Frame_Shift_Ins_p.V319fs|IFRD1_uc003vgk.3_Frame_Shift_Ins_p.V86fs	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	369					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						GATTGCTGGGTAAAAAAACACA	0.396													A	112112340	-	A	112112339	7	5	63	1	0	1	1	0	0	0	0	0	7553	349	13	0	1145	0	IFRD1	7	112112339	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	532066	112112339	47026324	742	45475											
ASZ1	136991	broad.mit.edu	37	chr7	117067503	117067503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggcaggcctcgcagcgcGctcgccgccatgccagccaa	12	18	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:117067503G>A	uc003vjb.2	-	1	75	c.12C>T	c.(10-12)AGC>AGT	p.S4S	ASZ1_uc011kno.1_Silent_p.S4S|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper	4					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CTCGCAGCGCGCTCGCCGCCA	0.692											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	117067503	G	A	117067503	2	1	63	1	0	0	0	0	0	0	0	1	1069	1078	38	1		1	ASZ1	7	117067503	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	4955164	117067503	42071160	743	45476											
PTPRZ1	5803	broad.mit.edu	37	chr7	121650445	121650445	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaatcctggtagagacAgtgctacaaaccaaatcagg	10	8	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:121650445A>C	uc003vjy.2	+	12	1740	c.1345A>C	c.(1345-1347)AGT>CGT	p.S449R	PTPRZ1_uc003vjz.2_Missense_Mutation_p.S449R|PTPRZ1_uc011knt.1_5'UTR	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	449	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						TGGTAGAGACAGTGCTACAAA	0.408													C	121650445	A	C	121650445	3	2	63	1	0	0	0	0	1	0	0	0	12814	188	7	5	1391	5	PTPRZ1	7	121650445	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	4582942	121650445	37488218	744	45477											
CADPS2	93664	broad.mit.edu	37	chr7	122194676	122194676	+	Frame_Shift_Del	DEL	T	T	-													ttaagtcagaatcctggctaTtttttggaactaccattcgg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:122194675_122194675AT>A	uc022akp.1	-	7	1826	c.1404_1404AT>T	c.(1402-1404)aatfs	p.N468fs	CADPS2_uc003vkg.4_Frame_Shift_Del_p.N168fs|CADPS2_uc022akq.1_Frame_Shift_Del_p.N468fs|CADPS2_uc010lkq.3_Frame_Shift_Del_p.N468fs|CADPS2_uc022akr.1_Frame_Shift_Del_p.N468fs	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	468					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AATCCTGGCTATTTTTTGGAA	0.363													-	122194676	T	-	122194676	7	5	63	1	0	1	0	1	0	0	0	0	2571	1493	52	0	2623	0	CADPS2	7	122194676	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	544231	122194676	36943987	745	45478											
SLC13A1	6561	broad.mit.edu	37	chr7	122809288	122809288	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctgcattgatgatctgcTgcactacagcctccgcaatg	8	13	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:122809288T>C	uc003vkm.2	-	4	492	c.467A>G	c.(466-468)CAG>CGG	p.Q156R	SLC13A1_uc010lks.2_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	156						integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)	GATGATCTGCTGCACTACAGC	0.517													C	122809288	T	C	122809288	3	2	63	1	0	0	0	0	1	0	0	0	14391	1580	55	3	1368	3	SLC13A1	7	122809288	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	614612	122809288	36329375	746	45479											
SLC13A1	6561	broad.mit.edu	37	chr7	122839969	122839969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaccacgaagagaaatcggCgataaaccagaatgtaactg	9	8	0	2	rs143242073	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:122839969C>T	uc003vkm.2	-	1	57	c.32G>A	c.(31-33)CGC>CAC	p.R11H	SLC13A1_uc010lks.2_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	11						integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)	GAGAAATCGGCGATAAACCAG	0.428													T	122839969	C	T	122839969	3	4	63	1	0	0	0	0	1	0	0	0	14391	768	27	1	1815	1	SLC13A1	7	122839969	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	30681	122839969	36298694	747	45480											
RBM28	55131	broad.mit.edu	37	chr7	127979377	127979378	+	Splice_Site	INS	-	-	A													ttgggcactctgagttttctINSaaaaaataagaggtaatgga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:127979377_127979378insA	uc003vmp.2	-	3	393	c.278_splice	c.e3-1	p.E93_splice	RBM28_uc011koj.1_Intron|RBM28_uc011kok.1_Splice_Site_p.E40_splice	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28						mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			ovary(2)	2						CTGAGTTTTCTAAAAAATAAGA	0.401													A	127979378	-	A	127979377	8	5	63	1	0	1	1	0	0	0	1	0	13128	1536	53	0	2071	0	RBM28	7	127979377	Splice_Site	INS	-	TCGA-BR-8078-01A-11D-2340-08	5139408	127979377	31159286	748	45481	168	2									
RBM28	55131	broad.mit.edu	37	chr7	127979378	127979379	+	Splice_Site	INS	-	-	A													tgggcactctgagttttctaINSaaaaataagaggtaatggaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:127979377_127979378T>TA	uc003vmp.2	-	3	393	c.278_splice	c.e3-1	p.E93_splice	RBM28_uc011koj.1_Intron|RBM28_uc011kok.1_Splice_Site_p.E40_splice	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	93					RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTGAGTTTTCTAAAAAATAAGA	0.401													A	127979379	-	A	127979378	8	5	63	1	0	1	1	0	0	0	1	0	13128	377	13	0		0	RBM28	7	127979378	Splice_Site	INS	-	TCGA-BR-8078-01A-11D-2340-08	1	127979378	31159285	749	45482	168	2									
FLNC	2318	broad.mit.edu	37	chr7	128475415	128475415	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggatgggaacctgaagctgAtcctgggcctgatctggacg	15	9	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:128475415A>G	uc003vnz.3	+	2	597	c.388A>G	c.(388-390)ATC>GTC	p.I130V	FLNC_uc003voa.3_Missense_Mutation_p.I130V	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	130	CH 1.|Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CCTGAAGCTGATCCTGGGCCT	0.622													G	128475415	A	G	128475415	3	3	63	1	0	0	0	0	1	0	0	0	5935	333	12	3	394	3	FLNC	7	128475415	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	496037	128475415	30663248	750	45483											
SMO	6608	broad.mit.edu	37	chr7	128843389	128843389	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagcggggctggcctgacTtcctgcgctgcactcctgac	15	14	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:128843389T>C	uc003vor.2	+	2	776	c.496T>C	c.(496-498)TTC>CTC	p.F166L		NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	166	FZ.|Extracellular (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						CTGGCCTGACTTCCTGCGCTG	0.657			Mis		skin basal cell 								C	128843389	T	C	128843389	3	2	63	1	0	0	0	0	1	0	0	0	14800	1609	56	3	502	3	SMO	7	128843389	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	367974	128843389	30295274	751	45484											
FAM40B	57464	broad.mit.edu	37	chr7	129091546	129091546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaggtggtcagtagggaaCggcggctgaaggtggcccgg	20	7	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:129091546C>T	uc011koy.1	+	4	407	c.367C>T	c.(367-369)CGG>TGG	p.R123W	FAM40B_uc003vow.2_Missense_Mutation_p.R123W	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	123											0						CAGTAGGGAACGGCGGCTGAA	0.572													T	129091546	C	T	129091546	3	4	63	1	0	0	0	0	1	0	0	0	5561	527	19	1	381	1	FAM40B	7	129091546	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	248157	129091546	30047117	752	45485											
KLHDC10	23008	broad.mit.edu	37	chr7	129764312	129764312	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccgacatgaaattgcacaTgacgggcagaggatttacat	10	8	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:129764312T>C	uc003vpj.1	+	6	936	c.801T>C	c.(799-801)CAT>CAC	p.H267H	KLHDC10_uc003vpk.1_Silent_p.H238H|KLHDC10_uc010lmb.1_Silent_p.H164H	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	kelch domain containing 10	267	Kelch 3.										0						AAATTGCACATGACGGGCAGA	0.289													C	129764312	T	C	129764312	2	2	63	1	0	0	0	0	0	0	0	1	8355	1461	51	3		3	KLHDC10	7	129764312	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	672766	129764312	29374351	753	45486											
EXOC4	60412	broad.mit.edu	37	chr7	133314872	133314872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagccagaaacattaccGtcatattccacccattacta	5	13	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:133314872G>A	uc003vrk.2	+	10	1527	c.1492G>A	c.(1492-1494)GTC>ATC	p.V498I	EXOC4_uc011kpo.1_Missense_Mutation_p.V397I|EXOC4_uc003vrl.2_Missense_Mutation_p.V108I|EXOC4_uc011kpp.1_Missense_Mutation_p.V30I	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	498					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				AAACATTACCGTCATATTCCA	0.368													A	133314872	G	A	133314872	3	1	63	1	0	0	0	0	1	0	0	0	5306	1145	40	1	1539	1	EXOC4	7	133314872	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3550560	133314872	25823791	754	45487											
AKR1B10	57016	broad.mit.edu	37	chr7	134222385	134222385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaagattaaggagattgCtgcaaagcacaaaaaaaccg	8	9	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:134222385C>T	uc003vrr.2	+	7	1033	c.713C>T	c.(712-714)GCT>GTT	p.A238V		NM_020299	NP_064695	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10	238					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			skin(5)	5						AAGGAGATTGCTGCAAAGCAC	0.453													T	134222385	C	T	134222385	3	4	63	1	0	0	0	0	1	0	0	0	467	797	28	2	739	2	AKR1B10	7	134222385	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	907513	134222385	24916278	755	45488											
C7orf49	78996	broad.mit.edu	37	chr7	134851448	134851448	+	Frame_Shift_Del	DEL	C	C	-													tgctacaggcagagctggaaCcccccggcctctgggaaggg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:134851447_134851447AC>A	uc003vsl.3	-	3	703	c.390_390GT>T	c.(388-390)ggtfs	p.G130fs	C7orf49_uc003vsh.3_Intron|C7orf49_uc003vsj.3_Frame_Shift_Del_p.G101fs|C7orf49_uc022alz.1_3'UTR|C7orf49_uc022ama.1_Frame_Shift_Del_p.G75fs|C7orf49_uc022amb.1_3'UTR|C7orf49_uc003vsm.3_3'UTR|C7orf49_uc003vso.3_Frame_Shift_Del_p.G75fs|C7orf49_uc003vsk.3_3'UTR	NM_024033	NP_001230684	Q9BWK5	MRI_HUMAN	Homo sapiens chromosome 7 open reading frame 49 (C7orf49), transcript variant 1, mRNA.	130						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						CAGAGCTGGAACCCCCCGGCC	0.592													-	134851448	C	-	134851448	7	5	63	1	0	1	0	1	0	0	0	0	2398	507	18	0	88	0	C7orf49	7	134851448	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	629063	134851448	24287215	756	45489											
NUP205	23165	broad.mit.edu	37	chr7	135269638	135269638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactcgcaattgctgacaaCgttttcctgttcctcatgga	8	11	1	1	rs144217755	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:135269638C>T	uc003vsw.2	+	8	1132	c.1101C>T	c.(1099-1101)AAC>AAT	p.N367N	NUP205_uc011kqa.1_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	367					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						TTGCTGACAACGTTTTCCTGT	0.393													T	135269638	C	T	135269638	2	4	63	1	0	0	0	0	0	0	0	1	10759	535	19	1		1	NUP205	7	135269638	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	418190	135269638	23869025	757	45490											
PTN	5764	broad.mit.edu	37	chr7	136938212	136938212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtagcatgaggcttaccGccaaattgcttcttccagtt	8	11	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:136938212G>A	uc003vtq.2	-	3	651	c.288C>T	c.(286-288)GGC>GGT	p.G96G	PTN_uc010lmx.2_Silent_p.G96G|PTN_uc003vtr.1_Silent_p.G96G	NM_002825	NP_002816	P21246	PTN_HUMAN	pleiotrophin	96					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			upper_aerodigestive_tract(1)|pancreas(1)	2						GAGGCTTACCGCCAAATTGCT	0.433													A	136938212	G	A	136938212	2	1	63	1	0	0	0	0	0	0	0	1	12768	1101	38	1		1	PTN	7	136938212	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1668574	136938212	22200451	758	45491											
KIAA1549	57670	broad.mit.edu	37	chr7	138602550	138602550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctcagaaaaactggaacGttcttggtcagagaaaagtg	11	6	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:138602550G>A	uc011kql.1	-	2	1871	c.1822C>T	c.(1822-1824)CGT>TGT	p.R608C	KIAA1549_uc003vuk.3_Missense_Mutation_p.R558C|KIAA1549_uc011kqj.1_Missense_Mutation_p.R608C	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	608	Ser-rich.					integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						AAACTGGAACGTTCTTGGTCA	0.488			O	BRAF	pilocytic astrocytoma								A	138602550	G	A	138602550	3	1	63	1	0	0	0	0	1	0	0	0	8244	1145	40	1	4106	1	KIAA1549	7	138602550	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1664338	138602550	20536113	759	45492											
KLRG2	346689	broad.mit.edu	37	chr7	139168108	139168108	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggcagggcccggtgacGgcggctcggggcagaccccg	18	15	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:139168108G>T	uc003vvb.2	-	1	350	c.281C>A	c.(280-282)CCG>CAG	p.P94Q	KLRG2_uc010lnc.2_Missense_Mutation_p.P94Q	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G,	94	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)	1	Melanoma(164;0.233)					GCCCGGTGACGGCGGCTCGGG	0.746													T	139168108	G	T	139168108	3	4	63	1	0	0	0	0	1	0	0	0	8422	1116	39	5	968	5	KLRG2	7	139168108	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	565558	139168108	19970555	760	45493											
BRAF	673	broad.mit.edu	37	chr7	140482927	140482927	+	Frame_Shift_Del	DEL	G	G	-													gtgagccaggtaatgaggcaGggggggtagcagacaaacct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:140482926_140482926AG>A	uc003vwc.4	-	9	1270	c.1209_1209CT>T	c.(1207-1209)cctfs	p.P403fs		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	403					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTAATGAGGCAGGGGGGGTAG	0.428		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				-	140482927	G	-	140482927	7	5	63	1	0	1	0	1	0	0	0	0	1496	1000	35	0	1128	0	BRAF	7	140482927	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	1314819	140482927	18655736	761	45494											
MGAM	8972	broad.mit.edu	37	chr7	141800654	141800654	+	Frame_Shift_Del	DEL	G	G	-													tggatgatgaaggaactgctGggggctggctcttctgggat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:141800654delG	uc003vwy.2	+	45	5293	c.5239delG	c.(5239-5241)GGGfs	p.G1747fs		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1747	Glucoamylase.|Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGAACTGCTGGGGGCTGGCT	0.498													-	141800654	G	-	141800654	7	5	63	1	0	1	0	1	0	0	0	0	9541	1348	47	0	5413	0	MGAM	7	141800654	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	1317727	141800654	17338009	762	45495											
EPHB6	2051	broad.mit.edu	37	chr7	142561866	142561866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcgcggggcccagagggCgcacattcgactccacttct	14	15	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:142561866C>T	uc011kst.1	+	7	1095	c.308C>T	c.(307-309)GCG>GTG	p.A103V	EPHB6_uc011ksu.1_Missense_Mutation_p.A103V|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	103	Extracellular (Potential).					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					GCCCAGAGGGCGCACATTCGA	0.647													T	142561866	C	T	142561866	3	4	63	1	0	0	0	0	1	0	0	0	5178	768	27	1	318	1	EPHB6	7	142561866	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	761212	142561866	16576797	763	45496											
EPHB6	2051	broad.mit.edu	37	chr7	142566026	142566026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagtattacatcgacccctCcacctacgaggacccctgtc	7	16	0	0	rs143338098	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:142566026C>T	uc011kst.1	+	14	2733	c.1946C>T	c.(1945-1947)TCC>TTC	p.S649F	EPHB6_uc011ksu.1_Missense_Mutation_p.S649F|EPHB6_uc003wbs.2_Missense_Mutation_p.S357F|EPHB6_uc003wbt.2_Missense_Mutation_p.S123F|EPHB6_uc003wbu.2_Missense_Mutation_p.S357F|EPHB6_uc003wbv.2_Missense_Mutation_p.S33F	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	649	Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					ATCGACCCCTCCACCTACGAG	0.577													T	142566026	C	T	142566026	3	4	63	1	0	0	0	0	1	0	0	0	5178	855	30	4	1984	4	EPHB6	7	142566026	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4160	142566026	16572637	764	45497											
OR2F2	135948	broad.mit.edu	37	chr7	143633262	143633262	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaattctctgggttaacaTccaagctgggaacttgactc	9	9	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:143633262T>C	uc011ktv.1	+	1	937	c.937T>C	c.(937-939)TCC>CCC	p.S313P		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F,	313	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	Melanoma(164;0.0903)					TGGGTTAACATCCAAGCTGGG	0.418													C	143633262	T	C	143633262	3	2	63	1	0	0	0	0	1	0	0	0	10997	1435	50	3	939	3	OR2F2	7	143633262	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1067236	143633262	15505401	765	45498											
SSPO	23145	broad.mit.edu	37	chr7	149512268	149512268	+	Frame_Shift_Del	DEL	G	G	-													tttcttcctgcgtagactgcGggggtggccagagtctgcat					rs142728666	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:149512267_149512267CG>C	uc010lpk.3	+	74	10578	c.10578_10578CG>C	c.(10576-10578)tgcfs	p.C3526fs		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3529	TSP type-1 14.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCGTAGACTGCGGGGGTGGCC	0.667													-	149512268	G	-	149512268	7	5	63	1	0	1	0	1	0	0	0	0	15188	1116	39	0	10880	0	SSPO	7	149512268	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	5879006	149512268	9626395	766	45499											
LRRC61	65999	broad.mit.edu	37	chr7	150034532	150034532	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccaggccccagagccacCgaggcccagccctgggtgga	14	16	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:150034532C>T	uc003wgv.2	+	3	1256	c.582C>T	c.(580-582)ACC>ACT	p.T194T	LRRC61_uc003wgx.2_Silent_p.T194T|LRRC61_uc003wgw.2_Silent_p.T194T|LRRC61_uc003wgz.3_Silent_p.T194T	NM_023942	NP_076431	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	194											0			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCAGAGCCACCGAGGCCCAGC	0.667													T	150034532	C	T	150034532	2	4	63	1	0	0	0	0	0	0	0	1	9017	639	23	1		1	LRRC61	7	150034532	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	522264	150034532	9104131	767	45500											
GIMAP8	155038	broad.mit.edu	37	chr7	150174600	150174600	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggggcggggaatttggaagActtcatgaagaactcagata	14	5	2	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:150174600A>T	uc003whj.2	+	5	2060	c.1730A>T	c.(1729-1731)GAC>GTC	p.D577V		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	577						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AATTTGGAAGACTTCATGAAG	0.493													T	150174600	A	T	150174600	3	4	63	1	0	0	0	0	1	0	0	0	6385	275	10	5	1744	5	GIMAP8	7	150174600	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	140068	150174600	8964063	768	45501											
NOS3	4846	broad.mit.edu	37	chr7	150707211	150707211	+	Frame_Shift_Del	DEL	C	C	-													cactatccccaggtggccctCcccccggctgggtgcgggac							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:150707211delC	uc003wif.2	+	21	2817	c.2521delC	c.(2521-2523)CCCfs	p.P841fs	NOS3_uc011kuy.1_Frame_Shift_Del_p.P635fs	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	841	FAD-binding FR-type.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			central_nervous_system(5)|large_intestine(2)|skin(1)	8	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AGGTGGCCCTCCCCCCGGCTG	0.652													-	150707211	C	-	150707211	7	5	63	1	0	1	0	1	0	0	0	0	10544	855	30	0	2881	0	NOS3	7	150707211	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	532611	150707211	8431452	769	45502											
ASB10	136371	broad.mit.edu	37	chr7	150883953	150883953	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgctctgggtcgctggTatcaaagacggaatcaggag	13	10	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:150883953T>C	uc003wjm.1	-	1	526	c.400A>G	c.(400-402)ACC>GCC	p.T134A	ASB10_uc003wjl.1_Missense_Mutation_p.T134A|ASB10_uc003wjn.1_Intron	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box-containing 10	89					intracellular signal transduction						0			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGTCGCTGGTATCAAAGACG	0.642													C	150883953	T	C	150883953	3	2	63	1	0	0	0	0	1	0	0	0	1014	1638	57	3	1158	3	ASB10	7	150883953	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	176742	150883953	8254710	770	45503											
ABCF2	10061	broad.mit.edu	37	chr7	150911168	150911168	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggtcctcttggtgagcTggggctcctcatccaccagc	13	13	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:150911168T>G	uc003wjp.2	-	15	1955	c.1844A>C	c.(1843-1845)CAG>CCG	p.Q615P	ABCF2_uc003wjo.1_Missense_Mutation_p.Q615P	NM_007189	NP_009120	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F, member 2	615						ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTGGTGAGCTGGGGCTCCTC	0.567													G	150911168	T	G	150911168	3	3	63	1	0	0	0	0	1	0	0	0	66	1580	55	5	72	5	ABCF2	7	150911168	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	27215	150911168	8227495	771	45504											
GALNT11	63917	broad.mit.edu	37	chr7	151810418	151810418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcgaccatatggatctcccGaaggccaggacaccatgaca	11	13	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:151810418G>A	uc010lqg.1	+	8	1398	c.1168G>A	c.(1168-1170)GAA>AAA	p.E390K	GALNT11_uc011kvm.1_Missense_Mutation_p.E309K|GALNT11_uc003wku.2_Missense_Mutation_p.E390K|GALNT11_uc003wkw.1_Missense_Mutation_p.E138K	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	390	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TGGATCTCCCGAAGGCCAGGA	0.473													A	151810418	G	A	151810418	3	1	63	1	0	0	0	0	1	0	0	0	6209	1059	37	1	1194	1	GALNT11	7	151810418	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	899250	151810418	7328245	772	45505											
SHH	6469	broad.mit.edu	37	chr7	155604760	155604760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccgcacgccagtcccgaGcataccagcagcgaggagac	13	15	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:155604760G>A	uc003wmk.1	-	1	208	c.57C>T	c.(55-57)TGC>TGT	p.C19C	SHH_uc003wmh.1_5'Flank|SHH_uc003wmi.1_5'Flank|SHH_uc003wmj.1_5'Flank	NM_000193	NP_000184	Q15465	SHH_HUMAN	sonic hedgehog preproprotein	19					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|lung(1)	4	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGTCCCGAGCATACCAGCA	0.617													A	155604760	G	A	155604760	2	1	63	1	0	0	0	0	0	0	0	1	14279	963	34	2		2	SHH	7	155604760	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3794342	155604760	3533903	773	45506											
DLGAP2	9228	broad.mit.edu	37	chr8	1514032	1514032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgctgctgaagtccatcGgacagagaccgcttggagag	14	11	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:1514032G>A	uc003wpl.2	+	3	1271	c.1174G>A	c.(1174-1176)GGA>AGA	p.G392R	DLGAP2_uc003wpm.2_Missense_Mutation_p.G392R	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	471					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GAAGTCCATCGGACAGAGACC	0.577													A	1514032	G	A	1514032	3	1	63	1	0	0	0	0	1	0	0	0	4560	1117	39	1	1180	1	DLGAP2	8	1514032	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08		1514032	144849990	774	45507											
CSMD1	64478	broad.mit.edu	37	chr8	2813120	2813120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgacttacttttacacaCaggcgactttcctgtccatt	5	12	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:2813120C>T	uc011kwk.1	-	64	10378	c.9988G>A	c.(9988-9990)GTG>ATG	p.V3330M	CSMD1_uc011kwj.1_Missense_Mutation_p.V2659M|CSMD1_uc010lrg.2_Missense_Mutation_p.V1221M	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3330	Sushi 28.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTTTACACACAGGCGACTTT	0.488													T	2813120	C	T	2813120	3	4	63	1	0	0	0	0	1	0	0	0	3944	478	17	4	737	4	CSMD1	8	2813120	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1299088	2813120	143550902	775	45508											
CSMD1	64478	broad.mit.edu	37	chr8	3141814	3141814	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcactgtccaccggcccgtcCcagaccttgaggatgtcgtg	11	15	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:3141814C>A	uc011kwk.1	-	26	4398	c.4008G>T	c.(4006-4008)TGG>TGT	p.W1336C	CSMD1_uc011kwj.1_Missense_Mutation_p.W728C|CSMD1_uc003wqe.2_Missense_Mutation_p.W492C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1336	Extracellular (Potential).|CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCGGCCCGTCCCAGACCTTGA	0.572											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	3141814	C	A	3141814	3	1	63	1	0	0	0	0	1	0	0	0	3944	624	22	5	6869	5	CSMD1	8	3141814	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	328694	3141814	143222208	776	45509											
TNKS	8658	broad.mit.edu	37	chr8	9623842	9623842	+	Frame_Shift_Del	DEL	A	A	-													ggccgggatttattttgctgAaaactcctcaaaaagcaacc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:9623841_9623841GA>G	uc003wss.3	+	24	3651	c.3646_3646GA>G	c.(3646-3648)gaafs	p.E1216fs	TNKS_uc011kww.2_Frame_Shift_Del_p.E979fs	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	1216	PARP catalytic.				Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TTATTTTGCTGAAAACTCCTC	0.413													-	9623842	A	-	9623842	7	5	63	1	0	1	0	1	0	0	0	0	16316	246	9	0	3745	0	TNKS	8	9623842	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	6482028	9623842	136740180	777	45510											
XKR6	286046	broad.mit.edu	37	chr8	10755763	10755763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgttacggctctggtgggcGtaacctgggtcccccggtac	14	14	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:10755763G>A	uc003wtk.1	-	3	1652	c.1625C>T	c.(1624-1626)ACG>ATG	p.T542M		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	542						integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TCTGGTGGGCGTAACCTGGGT	0.637													A	10755763	G	A	10755763	3	1	63	1	0	0	0	0	1	0	0	0	17432	1145	40	1	304	1	XKR6	8	10755763	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1131921	10755763	135608259	778	45511											
AMAC1L2	83650	broad.mit.edu	37	chr8	11188646	11188646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacccctacttcaacctgCctgactccacacacccatcg	4	20	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:11188646C>T	uc003wtp.1	+	1	152	c.31C>T	c.(31-33)CCT>TCT	p.P11S		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	acyl-malonyl condensing enzyme	11						integral to membrane					0			STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)		CTTCAACCTGCCTGACTCCAC	0.652													T	11188646	C	T	11188646	3	4	63	1	0	0	0	0	1	0	0	0	560	739	26	2	33	2	AMAC1L2	8	11188646	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	432883	11188646	135175376	779	45512											
DLC1	10395	broad.mit.edu	37	chr8	12957167	12957167	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgttctccagatccgccagGtcccctgaactggagtagag	11	13	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:12957167G>T	uc003wwm.2	-	9	3123	c.2679C>A	c.(2677-2679)GAC>GAA	p.D893E	DLC1_uc003wwk.1_Missense_Mutation_p.D456E|DLC1_uc003wwl.1_Missense_Mutation_p.D490E|DLC1_uc011kxx.1_Missense_Mutation_p.D382E	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	893					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GATCCGCCAGGTCCCCTGAAC	0.572													T	12957167	G	T	12957167	3	4	63	1	0	0	0	0	1	0	0	0	4550	1252	44	5	1947	5	DLC1	8	12957167	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1768521	12957167	133406855	780	45513											
DLC1	10395	broad.mit.edu	37	chr8	12957997	12957997	+	Frame_Shift_Del	DEL	G	G	-													gctgatgacggagttagtccGgggggtggcagcatcctcgc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:12957996_12957996CG>C	uc003wwm.2	-	8	2294	c.1850_1850CG>G	c.(1849-1851)cggfs	p.R617fs	DLC1_uc003wwk.1_Frame_Shift_Del_p.R180fs|DLC1_uc003wwl.1_Frame_Shift_Del_p.R214fs|DLC1_uc011kxx.1_Frame_Shift_Del_p.R106fs	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	617					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGAGTTAGTCCGGGGGGTGGC	0.652													-	12957997	G	-	12957997	7	5	63	1	0	1	0	1	0	0	0	0	4550	1115	39	0	2777	0	DLC1	8	12957997	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	830	12957997	133406025	781	45514											
ASAH1	427	broad.mit.edu	37	chr8	17924735	17924735	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taagtgaactttacctaaagGtatatcagtaacagcggcaa	8	7	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:17924735G>T	uc003wyl.2	-	5	688	c.376C>A	c.(376-378)CCT>ACT	p.P126T	ASAH1_uc010ltb.1_RNA|ASAH1_uc003wym.2_Missense_Mutation_p.P126T|ASAH1_uc003wyn.2_Missense_Mutation_p.P142T|ASAH1_uc003wyo.2_Missense_Mutation_p.P120T	NM_177924	NP_808592	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase 1 isoform a	126					ceramide metabolic process	lysosome	ceramidase activity				0				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TTACCTAAAGGTATATCAGTA	0.343													T	17924735	G	T	17924735	3	4	63	1	0	0	0	0	1	0	0	0	1006	1261	44	5	851	5	ASAH1	8	17924735	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	4966738	17924735	128439287	782	45515											
PSD3	23362	broad.mit.edu	37	chr8	18662050	18662050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgagtgactgatccagcGtcattcctgtaaaatcaaaa	7	10	2	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:18662050G>A	uc003wza.2	-	6	1995	c.1892C>T	c.(1891-1893)ACG>ATG	p.T631M	PSD3_uc003wyy.2_Missense_Mutation_p.T97M|PSD3_uc003wyz.2_Translation_Start_Site	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	631	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTGATCCAGCGTCATTCCTGT	0.358													A	18662050	G	A	18662050	3	1	63	1	0	0	0	0	1	0	0	0	12648	1145	40	1	1295	1	PSD3	8	18662050	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	737315	18662050	127701972	783	45516											
LPL	4023	broad.mit.edu	37	chr8	19811840	19811840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattggagaagctatccgcGtgattgcagagagaggactt	13	7	0	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:19811840G>A	uc003wzk.3	+	5	1121	c.751G>A	c.(751-753)GTG>ATG	p.V251M		NM_000237	NP_000228	P06858	LIPL_HUMAN	lipoprotein lipase precursor	251					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	AGCTATCCGCGTGATTGCAGA	0.428													A	19811840	G	A	19811840	3	1	63	1	0	0	0	0	1	0	0	0	8921	1145	40	1	769	1	LPL	8	19811840	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1149790	19811840	126552182	784	45517											
REEP4	80346	broad.mit.edu	37	chr8	21996234	21996234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggggccgggctggcgccCgggggactgcctcagtatct	17	14	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:21996234C>T	uc003xau.1	-	7	1079	c.626G>A	c.(625-627)CGG>CAG	p.R209Q	REEP4_uc010ltt.1_Missense_Mutation_p.G164R	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	209						integral to membrane				skin(1)	1				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		GGCTGGCGCCCGGGGGACTGC	0.662													T	21996234	C	T	21996234	3	4	63	1	0	0	0	0	1	0	0	0	13207	652	23	1	155	1	REEP4	8	21996234	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2184394	21996234	124367788	785	45518											
BMP1	649	broad.mit.edu	37	chr8	22069141	22069141	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtactcggcgggagattctgTcctggtgaagttccactcgg	14	10	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:22069141T>G	uc003xbg.2	+	20	3105	c.2861T>G	c.(2860-2862)GTC>GGC	p.V954G	BMP1_uc011kzc.1_Missense_Mutation_p.V703G|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	954	CUB 5.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGAGATTCTGTCCTGGTGAAG	0.567													G	22069141	T	G	22069141	3	3	63	1	0	0	0	0	1	0	0	0	1456	1667	58	5	3029	5	BMP1	8	22069141	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	72907	22069141	124294881	786	45519											
NEFL	4747	broad.mit.edu	37	chr8	24813205	24813205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgaaccattcctcagcGttctgcatgttcttggcggc	9	13	4	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:24813205G>A	uc003xee.2	-	1	927	c.825C>T	c.(823-825)AAC>AAT	p.N275N		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	275	Rod.|Linker 2.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATTCCTCAGCGTTCTGCATGT	0.642													A	24813205	G	A	24813205	2	1	63	1	0	0	0	0	0	0	0	1	10315	1136	40	1		1	NEFL	8	24813205	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2744064	24813205	121550817	787	45520											
DOCK5	80005	broad.mit.edu	37	chr8	25267621	25267621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtcatttctaggctcccCatcgttgcagacagatggaa	9	11	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:25267621C>T	uc003xeg.2	+	51	5548	c.5411C>T	c.(5410-5412)CCA>CTA	p.P1804L	PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1804	Pro-rich.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CTAGGCTCCCCATCGTTGCAG	0.557													T	25267621	C	T	25267621	3	4	63	1	0	0	0	0	1	0	0	0	4690	594	21	4	5613	4	DOCK5	8	25267621	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	454416	25267621	121096401	788	45521											
EBF2	64641	broad.mit.edu	37	chr8	25897577	25897577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcgtcaggagaactcggCacatttccggattcttattc	10	11	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:25897577C>T	uc003xes.1	-	5	466	c.449G>A	c.(448-450)TGC>TAC	p.C150Y	PPP2R2A_uc003xek.2_Intron|EBF2_uc003xet.1_Missense_Mutation_p.C150Y	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	150	C5-type (Potential).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GAGAACTCGGCACATTTCCGG	0.592													T	25897577	C	T	25897577	3	4	63	1	0	0	0	0	1	0	0	0	4881	710	25	2	1326	2	EBF2	8	25897577	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	629956	25897577	120466445	789	45522											
EPHX2	2053	broad.mit.edu	37	chr8	27364393	27364394	+	Frame_Shift_Ins	INS	-	-	T													ctgttttgggctcaggtcgtINSttttttggatgacatcgggg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:27364392_27364393G>GT	uc003xfu.3	+	4	622_623	c.541_542G>GT	c.(541-543)gttfs	p.V181fs	EPHX2_uc010lut.1_Frame_Shift_Ins_p.V181fs|EPHX2_uc010luv.3_Frame_Shift_Ins_p.V115fs|EPHX2_uc003xfv.3_Frame_Shift_Ins_p.V128fs|EPHX2_uc010luw.3_Frame_Shift_Ins_p.V115fs|EPHX2_uc011lam.1_Frame_Shift_Ins_p.V37fs	NM_001979	NP_001970	P34913	HYES_HUMAN	Homo sapiens epoxide hydrolase 2, cytoplasmic (EPHX2), mRNA.	181	Phosphatase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	Golgi apparatus|cytosol|focal adhesion|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	GGCTCAGGTCGTTTTTTTGGAT	0.47													T	27364394	-	T	27364393	7	5	63	1	0	1	1	0	0	0	0	0	5180	1725	60	0	560	0	EPHX2	8	27364393	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1466816	27364393	118999629	790	45523											
FZD3	7976	broad.mit.edu	37	chr8	28378245	28378245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatttgtatggaatatggaCgtgtcacacttccctgtcgt	9	9	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:28378245C>T	uc003xgx.2	+	4	758	c.280C>T	c.(280-282)CGT>TGT	p.R94C	FZD3_uc010lvb.2_Missense_Mutation_p.R94C	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3 precursor	94	FZ.|Extracellular (Potential).				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		GGAATATGGACGTGTCACACT	0.483													T	28378245	C	T	28378245	3	4	63	1	0	0	0	0	1	0	0	0	6131	536	19	1	286	1	FZD3	8	28378245	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1013852	28378245	117985777	791	45524											
WRN	7486	broad.mit.edu	37	chr8	30969140	30969140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcattcaggttccaatcGttgcacttactgctactgca	6	12	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:30969140G>A	uc003xio.3	+	19	2886	c.2098G>A	c.(2098-2100)GTT>ATT	p.V700I	WRN_uc010lvk.2_Missense_Mutation_p.V167I	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	700	Helicase ATP-binding.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GGTTCCAATCGTTGCACTTAC	0.393			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				A	30969140	G	A	30969140	3	1	63	1	0	0	0	0	1	0	0	0	17399	1145	40	1	2168	1	WRN	8	30969140	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2590895	30969140	115394882	792	45525											
NRG1	3084	broad.mit.edu	37	chr8	31498154	31498154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgccaacagcaccagccgCgcgccggccgccttccgagc	12	20	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:31498154C>T	uc003xip.2	+	1	887	c.654C>T	c.(652-654)CGC>CGT	p.R218R		NM_013962	NP_039256	Q02297	NRG1_HUMAN	neuregulin 1 isoform GGF2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCACCAGCCGCGCGCCGGCCG	0.677													T	31498154	C	T	31498154	2	4	63	1	0	0	0	0	0	0	0	1	10647	755	27	1		1	NRG1	8	31498154	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	529014	31498154	114865868	793	45526											
NRG1	3084	broad.mit.edu	37	chr8	31498171	31498171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgcgcgccggccgccttccGagcctctttcccccctctgg	10	22	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:31498171G>A	uc003xip.2	+	1	904	c.671G>A	c.(670-672)CGA>CAA	p.R224Q		NM_013962	NP_039256	Q02297	NRG1_HUMAN	neuregulin 1 isoform GGF2	Error:Variant_position_missing_in_Q02297_after_alignment					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCCGCCTTCCGAGCCTCTTTC	0.682													A	31498171	G	A	31498171	3	1	63	1	0	0	0	0	1	0	0	0	10647	1058	37	1	673	1	NRG1	8	31498171	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	17	31498171	114865851	794	45527											
UNC5D	137970	broad.mit.edu	37	chr8	35542123	35542123	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atggaggctggtcttcctggAcagagtggtcagcctgcaat	14	9	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:35542123A>T	uc003xjr.1	+	6	1103	c.775A>T	c.(775-777)ACA>TCA	p.T259S	UNC5D_uc003xjs.1_Missense_Mutation_p.T254S|UNC5D_uc003xjt.1_Missense_Mutation_p.T28S	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	259	TSP type-1 1.|Extracellular (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTCTTCCTGGACAGAGTGGTC	0.448													T	35542123	A	T	35542123	3	4	63	1	0	0	0	0	1	0	0	0	16992	275	10	5	797	5	UNC5D	8	35542123	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	4043952	35542123	110821899	795	45528											
KCNU1	157855	broad.mit.edu	37	chr8	36768518	36768519	+	Frame_Shift_Ins	INS	-	-	C													tccatgtgtgctgtcttgtcINSccccccaccccagccatcaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:36768517_36768518T>TC	uc010lvw.3	+	21	2488_2489	c.2401_2402T>TC	c.(2401-2403)tccfs	p.S801fs	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	801						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGCTGTCTTGTCCCCCCCACCC	0.525													C	36768519	-	C	36768518	7	5	63	1	0	1	1	0	0	0	0	0	8093	855	30	0	2488	0	KCNU1	8	36768518	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1226395	36768518	109595504	796	45529											
AGPAT6	137964	broad.mit.edu	37	chr8	41469749	41469749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggccaatcatacctcacCgatcgatgtgatcatcttgg	9	11	4	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:41469749C>T	uc003xnz.2	+	7	1691	c.752C>T	c.(751-753)CCG>CTG	p.P251L		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	lysophosphatidic acid acyltransferase zeta	251	HXXXXD motif.				acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity				0	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			CATACCTCACCGATCGATGTG	0.458													T	41469749	C	T	41469749	3	4	63	1	0	0	0	0	1	0	0	0	391	652	23	1	774	1	AGPAT6	8	41469749	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4701231	41469749	104894273	797	45530											
IKBKB	3551	broad.mit.edu	37	chr8	42178300	42178300	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggatgatggctctgcagacCgacattgtggacttacagag	13	9	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:42178300C>A	uc003xow.1	+	16	1803	c.1626C>A	c.(1624-1626)ACC>ACA	p.T542T	IKBKB_uc010lxh.1_3'UTR|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Silent_p.T319T|IKBKB_uc003xox.1_Silent_p.T263T|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Silent_p.T540T|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Silent_p.T483T	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	542					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CTCTGCAGACCGACATTGTGG	0.567													A	42178300	C	A	42178300	2	1	63	1	0	0	0	0	0	0	0	1	7611	639	23	5		5	IKBKB	8	42178300	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	708551	42178300	104185722	798	45531											
FNTA	2339	broad.mit.edu	37	chr8	42924786	42924786	+	Frame_Shift_Del	DEL	A	A	-													caataattgaggagcagcccAaaaactatcaagtttggtaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:42924785_42924785CA>C	uc003xps.3	+	3	537	c.489_489CA>C	c.(487-489)cccfs	p.P163fs	FNTA_uc003xpt.3_Frame_Shift_Del_p.P72fs|FNTA_uc003xpv.3_Non-coding_Transcript	NM_002027	NP_002018	P49354	FNTA_HUMAN	Homo sapiens farnesyltransferase, CAAX box, alpha (FNTA), transcript variant 1, mRNA.	163					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	CAAX-protein geranylgeranyltransferase activity|alpha-tubulin binding|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGGAGCAGCCCAAAAACTATC	0.483													-	42924786	A	-	42924786	7	5	63	1	0	1	0	1	0	0	0	0	5977	131	5	0	504	0	FNTA	8	42924786	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	746486	42924786	103439236	799	45532											
RP1	6101	broad.mit.edu	37	chr8	55534032	55534032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacccgaagacgaggcgtgCggttcttctgagcaggaggg	17	10	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:55534032C>T	uc003xsd.1	+	2	654	c.506C>T	c.(505-507)GCG>GTG	p.A169V	RP1_uc011ldy.1_Missense_Mutation_p.A169V	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	169	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACGAGGCGTGCGGTTCTTCTG	0.647													T	55534032	C	T	55534032	3	4	63	1	0	0	0	0	1	0	0	0	13532	768	27	1	508	1	RP1	8	55534032	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	12609246	55534032	90829990	800	45533											
RP1	6101	broad.mit.edu	37	chr8	55539129	55539129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccagggcaaattctttagCttctttgaaaaaacctgatt	6	8	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:55539129C>T	uc003xsd.1	+	4	2835	c.2687C>T	c.(2686-2688)GCT>GTT	p.A896V	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	896					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AATTCTTTAGCTTCTTTGAAA	0.328													T	55539129	C	T	55539129	3	4	63	1	0	0	0	0	1	0	0	0	13532	797	28	2	2697	2	RP1	8	55539129	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	5097	55539129	90824893	801	45534											
FAM110B	90362	broad.mit.edu	37	chr8	59059060	59059060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgtgcccggctgccaagCgcgcactgggcagccccacg	15	17	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:59059060C>T	uc003xtj.1	+	5	1151	c.271C>T	c.(271-273)CGC>TGC	p.R91C		NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	91						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GGCTGCCAAGCGCGCACTGGG	0.642													T	59059060	C	T	59059060	3	4	63	1	0	0	0	0	1	0	0	0	5397	768	27	1	273	1	FAM110B	8	59059060	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3519931	59059060	87304962	802	45535											
FAM110B	90362	broad.mit.edu	37	chr8	59059079	59059079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgcactgggcagccccaCgctcaaagtgttcggcaacc	12	16	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:59059079C>T	uc003xtj.1	+	5	1170	c.290C>T	c.(289-291)ACG>ATG	p.T97M		NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	97						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GGCAGCCCCACGCTCAAAGTG	0.647													T	59059079	C	T	59059079	3	4	63	1	0	0	0	0	1	0	0	0	5397	536	19	1	292	1	FAM110B	8	59059079	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	19	59059079	87304943	803	45536											
SDCBP	6386	broad.mit.edu	37	chr8	59492251	59492251	+	Frame_Shift_Del	DEL	A	A	-													ggttttatctttaaaaatggAaaaataacatccatagtgaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:59492250_59492250GA>G	uc003xtn.3	+	6	797	c.647_647GA>G	c.(646-648)ggafs	p.G216fs	SDCBP_uc003xto.3_Frame_Shift_Del_p.G215fs|SDCBP_uc003xtr.3_Frame_Shift_Del_p.G215fs|SDCBP_uc003xtq.3_Frame_Shift_Del_p.G216fs|SDCBP_uc003xtp.3_Frame_Shift_Del_p.G210fs|SDCBP_uc003xts.3_Frame_Shift_Del_p.G222fs|SDCBP_uc011led.2_Frame_Shift_Del_p.G157fs	NM_005625	NP_005616	O00560	SDCB1_HUMAN	Homo sapiens syndecan binding protein (syntenin) (SDCBP), transcript variant 1, mRNA.	216	PDZ 2.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein N-terminus binding|protein heterodimerization activity|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TTTAAAAATGGAAAAATAACA	0.363													-	59492251	A	-	59492251	7	5	63	1	0	1	0	1	0	0	0	0	13955	233	9	0	670	0	SDCBP	8	59492251	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	433172	59492251	86871771	804	45537											
RAB2A	5862	broad.mit.edu	37	chr8	61533311	61533311	+	Frame_Shift_Del	DEL	G	G	-													atcagggaggacagcaggctGggggcggctgctgttgagtc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:61533310_61533310TG>T	uc003xud.2	+	7	919	c.621_621TG>T	c.(619-621)gctfs	p.A207fs	RAB2A_uc011lef.2_Frame_Shift_Del_p.A183fs	NM_002865	NP_002856	P61019	RAB2A_HUMAN	Homo sapiens RAB2A, member RAS oncogene family (RAB2A), transcript variant 1, mRNA.	207					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|melanosome	GDP binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			GACAGCAGGCTGGGGGCGGCT	0.512													-	61533311	G	-	61533311	7	5	63	1	0	1	0	1	0	0	0	0	12917	1348	47	0	652	0	RAB2A	8	61533311	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	2041060	61533311	84830711	805	45538											
CHD7	55636	broad.mit.edu	37	chr8	61777851	61777851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactggcaacagctgccaccGccggaggcgatgcgaagaac	14	13	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:61777851G>A	uc003xue.2	+	38	8830	c.8353G>A	c.(8353-8355)GCC>ACC	p.A2785T		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2785					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGCTGCCACCGCCGGAGGCGA	0.617													A	61777851	G	A	61777851	3	1	63	1	0	0	0	0	1	0	0	0	3330	1087	38	1	8499	1	CHD7	8	61777851	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	244540	61777851	84586171	806	45539											
CYP7B1	9420	broad.mit.edu	37	chr8	65528784	65528785	+	Frame_Shift_Ins	INS	-	-	T													aaagcttaattgtttatgatINStttttatcactagctggtac							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:65528783_65528784A>AT	uc003xvj.2	-	2	518_519	c.314_315T>AT	c.(313-315)aatfs	p.N105fs		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	105					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				ATTGTTTATGATTTTTTATCAC	0.302													T	65528785	-	T	65528784	7	5	63	1	0	1	1	0	0	0	0	0	4197	1493	52	0	1222	0	CYP7B1	8	65528784	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	3750933	65528784	80835238	807	45540											
COPS5	10987	broad.mit.edu	37	chr8	67971573	67971573	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcatggtttcaccatccaccTttcctagcatcagacccatc	4	16	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:67971573T>A	uc003xxe.2	-	2	582	c.251A>T	c.(250-252)AAG>ATG	p.K84M	COPS5_uc003xxd.2_Missense_Mutation_p.K20M|COPS5_uc003xxf.2_Missense_Mutation_p.K129M|COPS5_uc010lyu.1_5'Flank|COPS5_uc010lyv.1_Missense_Mutation_p.K84M	NM_006837	NP_006828	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	84	MPN.				cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			ovary(1)|skin(1)	2	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACCATCCACCTTTCCTAGCAT	0.468													A	67971573	T	A	67971573	3	1	63	1	0	0	0	0	1	0	0	0	3736	1609	56	5	781	5	COPS5	8	67971573	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	2442789	67971573	78392449	808	45541											
PREX2	80243	broad.mit.edu	37	chr8	68989642	68989642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttaacagggagattgccGcaccagagaagaggcaatga	14	7	0	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:68989642G>A	uc003xxv.1	+	15	1607	c.1580G>A	c.(1579-1581)CGC>CAC	p.R527H	PREX2_uc003xxu.1_Missense_Mutation_p.R527H|PREX2_uc011lez.1_Missense_Mutation_p.R462H	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	527	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GGAGATTGCCGCACCAGAGAA	0.438													A	68989642	G	A	68989642	3	1	63	1	0	0	0	0	1	0	0	0	12477	1087	38	1	1638	1	PREX2	8	68989642	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1018069	68989642	77374380	809	45542											
PREX2	80243	broad.mit.edu	37	chr8	69012063	69012063	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacacctatgtcagagaatAtccagttataaaaaggtaag	8	6	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:69012063A>G	uc003xxv.1	+	23	2727	c.2700A>G	c.(2698-2700)ATA>ATG	p.I900M	PREX2_uc003xxu.1_Missense_Mutation_p.I900M|PREX2_uc011lez.1_Missense_Mutation_p.I835M	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	900					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GTCAGAGAATATCCAGTTATA	0.289													G	69012063	A	G	69012063	3	3	63	1	0	0	0	0	1	0	0	0	12477	439	16	3	2790	3	PREX2	8	69012063	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	22421	69012063	77351959	810	45543											
EYA1	2138	broad.mit.edu	37	chr8	72211944	72211944	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatattcctgatgatgttgTaaaactgctacctaaaacaa	5	7	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:72211944T>C	uc003xys.3	-	7	855	c.568A>G	c.(568-570)ACA>GCA	p.T190A	EYA1_uc003xyr.3_Missense_Mutation_p.T185A|EYA1_uc003xyt.3_Missense_Mutation_p.T157A|EYA1_uc010lzf.2_Missense_Mutation_p.T117A|EYA1_uc003xyu.2_Missense_Mutation_p.T190A|EYA1_uc011lfe.1_Missense_Mutation_p.T184A|EYA1_uc003xyv.2_Missense_Mutation_p.T68A	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	190					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GATGATGTTGTAAAACTGCTA	0.328													C	72211944	T	C	72211944	3	2	63	1	0	0	0	0	1	0	0	0	5328	1638	57	3	1254	3	EYA1	8	72211944	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	3199881	72211944	74152078	811	45544											
TRPA1	8989	broad.mit.edu	37	chr8	72958792	72958792	+	Frame_Shift_Del	DEL	T	T	-													tataacatcctgtgtaggtgTttttttggtgaattctaatg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:72958791_72958791GT>G	uc003xza.3	-	16	2193	c.2018_2018AC>C	c.(2017-2019)acafs	p.T673fs	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	673						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTGTGTAGGTGTTTTTTTGGT	0.269													-	72958792	T	-	72958792	7	5	63	1	0	1	0	1	0	0	0	0	16574	1725	60	0	1386	0	TRPA1	8	72958792	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	746848	72958792	73405230	812	45545											
ZFHX4	79776	broad.mit.edu	37	chr8	77617547	77617548	+	Frame_Shift_Ins	INS	-	-	G													caaaggctgaagtgaatctgINSggggggctgtctagtttagt					rs13252403		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:77617546_77617547T>TG	uc003yau.2	+	1	1610_1611	c.1223_1224T>TG	c.(1222-1224)ctgfs	p.L408fs	ZFHX4_uc003yat.1_Frame_Shift_Ins_p.L408fs|ZFHX4_uc003yaw.1_Frame_Shift_Ins_p.L408fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	408						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAGTGAATCTGGGGGGGCTGT	0.535										HNSCC(33;0.089)			G	77617548	-	G	77617547	7	5	63	1	0	1	1	0	0	0	0	0	17632	1335	47	0	1226	0	ZFHX4	8	77617547	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	4658755	77617547	68746475	813	45546											
ZFHX4	79776	broad.mit.edu	37	chr8	77776234	77776234	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaaagtccttctgttatttCggtcagcctttgattgaccc	7	11	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:77776234C>T	uc003yav.2	+	11	10536	c.10149C>T	c.(10147-10149)TTC>TTT	p.F3383F		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3379						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTGTTATTTCGGTCAGCCTT	0.438										HNSCC(33;0.089)			T	77776234	C	T	77776234	2	4	63	1	0	0	0	0	0	0	0	1	17632	883	31	1		1	ZFHX4	8	77776234	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	158687	77776234	68587788	814	45547											
ZFHX4	79776	broad.mit.edu	37	chr8	77776768	77776768	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctggcctagatggtaatttCaatagcatccgaatggatat	9	7	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:77776768C>A	uc003yav.2	+	11	11070	c.10683C>A	c.(10681-10683)TTC>TTA	p.F3561L		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3557						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGGTAATTTCAATAGCATCC	0.363										HNSCC(33;0.089)			A	77776768	C	A	77776768	3	1	63	1	0	0	0	0	1	0	0	0	17632	825	29	5	10856	5	ZFHX4	8	77776768	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	534	77776768	68587254	815	45548											
CHMP4C	92421	broad.mit.edu	37	chr8	82670501	82670501	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaaatagaaaaccaggcaTgtcgtccactgcacgtcgat	9	12	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:82670501T>C	uc003ycl.2	+	4	782	c.608T>C	c.(607-609)ATG>ACG	p.M203T		NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN	chromatin modifying protein 4C	203	Intramolecular interaction with N- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			ovary(2)	2						AAACCAGGCATGTCGTCCACT	0.463													C	82670501	T	C	82670501	3	2	63	1	0	0	0	0	1	0	0	0	3358	1464	51	3	622	3	CHMP4C	8	82670501	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	4893733	82670501	63693521	816	45549											
SLC7A13	157724	broad.mit.edu	37	chr8	87242090	87242090	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctacaatccacaacatggcCaatgccagacatttcttagg	6	13	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:87242090C>A	uc003ydq.1	-	1	515	c.417G>T	c.(415-417)TTG>TTT	p.L139F	SLC7A13_uc003ydr.1_Missense_Mutation_p.L139F	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	139	Helical; Name=4; (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1						ACAACATGGCCAATGCCAGAC	0.488													A	87242090	C	A	87242090	3	1	63	1	0	0	0	0	1	0	0	0	14695	593	21	5	1011	5	SLC7A13	8	87242090	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4571589	87242090	59121932	817	45550											
FAM82B	51115	broad.mit.edu	37	chr8	87487103	87487105	+	In_Frame_Del	DEL	AGC	AGC	-													ttggctttcattagccagaaAgcagcaagctttttgttgtg					rs142797828		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:87487102_87487104AAGC>A	uc003ydu.3	-	8	999_1001	c.839_841GCTT>T	c.(838-843)gctttc>gTtc	p.280_281AF>V	FAM82B_uc011lfz.2_In_Frame_Del_p.237_238AF>V|FAM82B_uc011lga.2_In_Frame_Del_p.250_251AF>V	NM_016033	NP_057117	Q96DB5	RMD1_HUMAN	Homo sapiens family with sequence similarity 82, member B (FAM82B), mRNA.	280						microtubule|spindle pole	binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						ATTAGCCAGAAAGCAGCAAGCTT	0.379													-	87487105	AGC	-	87487103	7	5	63	1	0	1	0	1	0	0	0	0	5632	59	3	0	112	0	FAM82B	8	87487103	In_Frame_Del	DEL	AGC	TCGA-BR-8078-01A-11D-2340-08	245013	87487103	58876919	818	45551											
CNGB3	54714	broad.mit.edu	37	chr8	87645015	87645015	+	Frame_Shift_Del	DEL	A	A	-													ggagaacacaaaaactccagAaaaaaaattcaagagttgaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:87645014_87645014GA>G	uc003ydx.3	-	10	1334	c.1286_1286TC>C	c.(1285-1287)tctfs	p.S429fs	CNGB3_uc010maj.3_Frame_Shift_Del_p.S291fs	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	429					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AAAAACTCCAGAAAAAAAATT	0.348													-	87645015	A	-	87645015	7	5	63	1	0	1	0	1	0	0	0	0	3601	246	9	0	1176	0	CNGB3	8	87645015	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	157912	87645015	58719007	819	45552											
RUNX1T1	862	broad.mit.edu	37	chr8	93003866	93003866	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaggtccttcagtcttaCccataggtctgtttctgtcc	8	12	4	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:93003866C>T	uc003yfd.2	-	6	1075	c.991_splice	c.e6+1	p.G331_splice	RUNX1T1_uc003yfc.1_Splice_Site_p.G304_splice|RUNX1T1_uc003yfe.1_Splice_Site_p.G294_splice|RUNX1T1_uc010mao.2_Splice_Site_p.G304_splice|RUNX1T1_uc011lgi.1_Splice_Site_p.G342_splice|RUNX1T1_uc010man.1_Intron|RUNX1T1_uc003yfb.1_Splice_Site_p.G294_splice	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1						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)			TTCAGTCTTACCCATAGGTCT	0.488													T	93003866	C	T	93003866	5	4	63	1	0	0	0	0	0	0	1	0	13747	521	18	4	846	4	RUNX1T1	8	93003866	Splice_Site	SNP	C	TCGA-BR-8078-01A-11D-2340-08	5358851	93003866	53360156	820	45553											
GEM	2669	broad.mit.edu	37	chr8	95272705	95272705	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcatgcccacagtgccctgGcgcatggtgacattattcag	11	12	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:95272705G>T	uc003ygj.2	-	2	276	c.27C>A	c.(25-27)CGC>CGA	p.R9R	GEM_uc003ygi.2_Silent_p.R9R	NM_005261	NP_005252	P55040	GEM_HUMAN	GTP-binding mitogen-induced T-cell protein	9					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			lung(1)	1	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CAGTGCCCTGGCGCATGGTGA	0.562													T	95272705	G	T	95272705	2	4	63	1	0	0	0	0	0	0	0	1	6329	1190	42	5		5	GEM	8	95272705	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2268839	95272705	51091317	821	45554											
DPY19L4	286148	broad.mit.edu	37	chr8	95792646	95792646	+	Splice_Site	DEL	A	A	-													ctcagcttatggaaagaggtAaaaaaattagatttttatat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:95792645_95792645TA>T	uc003ygx.2	+	15	1756	c.1632_splice	c.e15+2	p.E544_splice		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	544						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TGGAAAGAGGtaaaaaaatta	0.294													-	95792646	A	-	95792646	8	5	63	1	0	1	0	1	0	0	1	0	4743	377	13	0		0	DPY19L4	8	95792646	Splice_Site	DEL	A	TCGA-BR-8078-01A-11D-2340-08	519941	95792646	50571376	822	45555											
C8orf38	137682	broad.mit.edu	37	chr8	96044275	96044275	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctccctgcagaatccCgaagctctgtttttgcactg	9	13	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:96044275C>T	uc003yhj.2	+	2	266	c.250C>T	c.(250-252)CGA>TGA	p.R84*	C8orf38_uc003yhe.1_RNA|C8orf38_uc003yhf.2_5'UTR|C8orf38_uc011lgs.1_RNA|C8orf38_uc003yhi.2_Nonsense_Mutation_p.R32*|C8orf38_uc003yhk.2_RNA|C8orf38_uc003yhl.2_5'UTR	NM_152416	NP_689629	Q330K2	CH038_HUMAN	hypothetical protein LOC137682 precursor	84					biosynthetic process	mitochondrion	transferase activity				0	Breast(36;3.32e-06)					TGCAGAATCCCGAAGCTCTGT	0.413													T	96044275	C	T	96044275	4	4	63	1	0	0	0	0	0	1	0	0	2424	644	23	1	256	1	C8orf38	8	96044275	Nonsense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	251629	96044275	50319747	823	45556											
GDF6	392255	broad.mit.edu	37	chr8	97157603	97157603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcaagggaagagctgcaCgtggagcggcccggctggtg	19	9	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:97157603C>T	uc003yhp.2	-	2	656	c.556G>A	c.(556-558)GTG>ATG	p.V186M		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	186					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					AAGAGCTGCACGTGGAGCGGC	0.711													T	97157603	C	T	97157603	3	4	63	1	0	0	0	0	1	0	0	0	6317	536	19	1	815	1	GDF6	8	97157603	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1113328	97157603	49206419	824	45557											
TSPYL5	85453	broad.mit.edu	37	chr8	98289483	98289483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatccatgctgccttccgtcGctgggggccccgaccctgca	11	17	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:98289483G>A	uc003yhy.2	-	1	694	c.590C>T	c.(589-591)GCG>GTG	p.A197V		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	197					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)					GCCTTCCGTCGCTGGGGGCCC	0.617													A	98289483	G	A	98289483	3	1	63	1	0	0	0	0	1	0	0	0	16659	1087	38	1	667	1	TSPYL5	8	98289483	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1131880	98289483	48074539	825	45558											
MTDH	92140	broad.mit.edu	37	chr8	98657012	98657012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaagcgggaggaggcggCggccgtgccggccgcggccc	20	16	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:98657012C>T	uc003yhz.2	+	1	606	c.278C>T	c.(277-279)GCG>GTG	p.A93V		NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	metadherin	93	Interaction with BCCIP.|Cytoplasmic (Potential).				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			liver(1)|central_nervous_system(1)	2	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			GAGGAggcggcggccgtgccg	0.557													T	98657012	C	T	98657012	3	4	63	1	0	0	0	0	1	0	0	0	9917	768	27	1	280	1	MTDH	8	98657012	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	367529	98657012	47707010	826	45559											
TMEM74	157753	broad.mit.edu	37	chr8	109796600	109796600	+	Frame_Shift_Del	DEL	C	C	-													acaagcaggacaggatgacgCcccccagcgtgaggaggcag							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:109796599_109796599GC>G	uc003ymy.1	-	1	834	c.729_729GC>C	c.(727-729)ggcfs	p.G243fs	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Frame_Shift_Del_p.G243fs	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	243					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		p.G243G(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			ACAGGATGACGCCCCCCAGCG	0.582													-	109796600	C	-	109796600	7	5	63	1	0	1	0	1	0	0	0	0	16199	739	26	0	193	0	TMEM74	8	109796600	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	11139588	109796600	36567422	827	45560											
EXT1	2131	broad.mit.edu	37	chr8	118834730	118834730	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagcatagtagtaaggaaaaTctcccagataagatgaatac	8	6	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:118834730T>A	uc003yok.1	-	5	2164	c.1391A>T	c.(1390-1392)GAT>GTT	p.D464V		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	464	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GTAAGGAAAATCTCCCAGATA	0.383			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				A	118834730	T	A	118834730	3	1	63	1	0	0	0	0	1	0	0	0	5323	1435	50	5	877	5	EXT1	8	118834730	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	9038130	118834730	27529292	828	45561											
TRMT12	55039	broad.mit.edu	37	chr8	125463342	125463342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccggatggctcggtggcGctaccggtgctgggagagac	18	10	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:125463342G>A	uc003yra.3	+	1	295	c.174G>A	c.(172-174)GCG>GCA	p.A58A		NM_017956	NP_060426	Q53H54	TYW2_HUMAN	homolog of yeast tRNA methyltransferase 12	58					tRNA processing		methyltransferase activity			upper_aerodigestive_tract(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCTCGGTGGCGCTACCGGTGC	0.577													A	125463342	G	A	125463342	2	1	63	1	0	0	0	0	0	0	0	1	16561	1074	38	1		1	TRMT12	8	125463342	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	6628612	125463342	20900680	829	45562											
TATDN1	83940	broad.mit.edu	37	chr8	125535186	125535186	+	Frame_Shift_Del	DEL	T	T	-													ggaaatatttaccttgatgcTtttgaacccccctataaatt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:125535185_125535185CT>C	uc003yrd.2	-	1	123	c.81_81AG>G	c.(79-81)aagfs	p.K27fs	TATDN1_uc003yre.2_Non-coding_Transcript|TATDN1_uc010mdm.2_Intron	NM_032026	NP_001139632	Q6P1N9	TATD1_HUMAN	Homo sapiens TatD DNase domain containing 1 (TATDN1), transcript variant 1, mRNA.	27						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TACCTTGATGCTTTTGAACCC	0.353													-	125535186	T	-	125535186	7	5	63	1	0	1	0	1	0	0	0	0	15588	1609	56	0	857	0	TATDN1	8	125535186	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	71844	125535186	20828836	830	45563											
MTSS1	9788	broad.mit.edu	37	chr8	125597329	125597329	+	Splice_Site	DEL	T	T	-													gcagaattttaggagttaccTttttttgctttcttctgcag							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:125597328_125597328CT>C	uc003yrl.2	-	6	994	c.460_splice	c.e6+1	p.V154_splice	MTSS1_uc003yrj.2_Splice_Site_p.G154_splice|MTSS1_uc003yrk.2_Splice_Site_p.G154_splice	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	153	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TAGGAGTTACCTTTTTTTGCT	0.373													-	125597329	T	-	125597329	8	5	63	1	0	1	0	1	0	0	1	0	9962	1623	56	0	1844	0	MTSS1	8	125597329	Splice_Site	DEL	T	TCGA-BR-8078-01A-11D-2340-08	62143	125597329	20766693	831	45564											
ASAP1	50807	broad.mit.edu	37	chr8	131226887	131226887	+	Frame_Shift_Del	DEL	A	A	-													ggtcggggttgtctcgacttAaaaaattactcccaaactta							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:131226886_131226886TA>T	uc003yta.2	-	4	549	c.321_321TA>A	c.(319-321)ttafs	p.L107fs	ASAP1_uc011liw.2_Frame_Shift_Del_p.L100fs	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	107					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TGTCTCGACTTAAAAAATTAC	0.358													-	131226887	A	-	131226887	7	5	63	1	0	1	0	1	0	0	0	0	1010	372	13	0	3173	0	ASAP1	8	131226887	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	5629558	131226887	15137135	832	45565											
ADCY8	114	broad.mit.edu	37	chr8	132051844	132051844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacccaggtgaccacgcCgctgtactgcaggtacgtgt	13	14	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:132051844C>T	uc003ytd.3	-	1	992	c.736G>A	c.(736-738)GGC>AGC	p.G246S	ADCY8_uc010mds.2_Missense_Mutation_p.G246S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	246					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTGACCACGCCGCTGTACTGC	0.637										HNSCC(32;0.087)			T	132051844	C	T	132051844	3	4	63	1	0	0	0	0	1	0	0	0	300	652	23	1	3091	1	ADCY8	8	132051844	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	824957	132051844	14312178	833	45566											
WISP1	8840	broad.mit.edu	37	chr8	134232957	134232958	+	Frame_Shift_Ins	INS	-	-	C													cactgtgcctccgagtgcgcINScccccgcgtctctggtgccc					rs140648348	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:134232956_134232957G>GC	uc003yub.3	+	2	588_589	c.482_483G>GC	c.(481-483)cgcfs	p.R161fs	WISP1_uc003yuc.3_Intron|WISP1_uc010meb.3_Intron|WISP1_uc010mec.3_Intron|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	161	VWFC.				Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CTCCGAGTGCGCCCCCCGCGTC	0.653													C	134232958	-	C	134232957	7	5	63	1	0	1	1	0	0	0	0	0	17369	726	26	0	493	0	WISP1	8	134232957	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	2181113	134232957	12131065	834	45567											
FAM135B	51059	broad.mit.edu	37	chr8	139153485	139153485	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtacagggttcccaggtgaGgcccagagagtgacaggaac	15	9	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:139153485G>T	uc003yuy.2	-	17	3917	c.3746C>A	c.(3745-3747)CCT>CAT	p.P1249H	FAM135B_uc003yux.2_Missense_Mutation_p.P1150H|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1249										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCCCAGGTGAGGCCCAGAGAG	0.537										HNSCC(54;0.14)			T	139153485	G	T	139153485	3	4	63	1	0	0	0	0	1	0	0	0	5449	1000	35	5	490	5	FAM135B	8	139153485	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	4920528	139153485	7210537	835	45568											
TRAPPC9	83696	broad.mit.edu	37	chr8	141461467	141461467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgcatgtagtcagggacGctcattttgaagtccctgtt	10	10	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:141461467G>A	uc003yvj.2	-	2	140	c.6C>T	c.(4-6)AGC>AGT	p.S2S	TRAPPC9_uc003yvh.2_Silent_p.S100S|TRAPPC9_uc003yvi.1_Silent_p.S2S	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	2					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						AGTCAGGGACGCTCATTTTGA	0.547													A	141461467	G	A	141461467	2	1	63	1	0	0	0	0	0	0	0	1	16462	1078	38	1		1	TRAPPC9	8	141461467	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2307982	141461467	4902555	836	45569											
TSNARE1	203062	broad.mit.edu	37	chr8	143427223	143427223	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgggcaggggaaatggcggAttccatactcggtccaacat	13	10	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:143427223A>G	uc003ywk.2	-	3	237	c.119T>C	c.(118-120)ATC>ACC	p.I40T	TSNARE1_uc011lju.1_Missense_Mutation_p.I40T|TSNARE1_uc003ywj.2_Missense_Mutation_p.I40T|TSNARE1_uc003ywl.3_Intron	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	40					vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAAATGGCGGATTCCATACTC	0.617													G	143427223	A	G	143427223	3	3	63	1	0	0	0	0	1	0	0	0	16627	333	12	3	1466	3	TSNARE1	8	143427223	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	1965756	143427223	2936799	837	45570											
BAI1	575	broad.mit.edu	37	chr8	143562668	143562668	+	Frame_Shift_Del	DEL	C	C	-													aaggcatcgcctactgggagCcccccacctacatccgctgt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:143562667_143562667GC>G	uc003ywm.3	+	8	2064	c.1881_1881GC>G	c.(1879-1881)gagfs	p.E627fs		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	627					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCTACTGGGAGCCCCCCACCT	0.617													-	143562668	C	-	143562668	7	5	63	1	0	1	0	1	0	0	0	0	1298	739	26	0	1916	0	BAI1	8	143562668	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	135445	143562668	2801354	838	45571											
LYNX1	66004	broad.mit.edu	37	chr8	143856744	143856744	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcgaagcagcggggcacGcaggacttactgaccttcat	12	12	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:143856744G>A	uc003yxc.1	-	4	462	c.192C>T	c.(190-192)TGC>TGT	p.C64C	LYNX1_uc003yxb.2_Intron|LYNX1_uc003yxd.1_Silent_p.C64C|LYNX1_uc003yxe.1_Silent_p.C64C	NM_177476	NP_803429	Q9BZG9	LYNX1_HUMAN	Ly-6 neurotoxin-like protein 1 isoform c	64	UPAR/Ly6.					anchored to membrane|plasma membrane					0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGCGGGGCACGCAGGACTTAC	0.647													A	143856744	G	A	143856744	2	1	63	1	0	0	0	0	0	0	0	1	9108	1079	38	1		1	LYNX1	8	143856744	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	294076	143856744	2507278	839	45572											
CYP11B1	1584	broad.mit.edu	37	chr8	143958275	143958275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccaaccaggcccagccGctctccaaaaagagccaagt	10	15	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:143958275G>A	uc003yxi.2	-	4	629	c.622C>T	c.(622-624)CGG>TGG	p.R208W	CYP11B1_uc010mex.2_5'Flank|CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.R208W|CYP11B1_uc010mey.2_Missense_Mutation_p.R279W	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	208					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	AGGCCCAGCCGCTCTCCAAAA	0.622									Familial_Hyperaldosteronism_type_I				A	143958275	G	A	143958275	3	1	63	1	0	0	0	0	1	0	0	0	4145	1086	38	1	913	1	CYP11B1	8	143958275	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	101531	143958275	2405747	840	45573											
NAPRT1	93100	broad.mit.edu	37	chr8	144658934	144658934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccccagccccaggtgggCacacacctgctccagccaca	8	21	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:144658934C>T	uc003yym.3	-	6	788	c.763G>A	c.(763-765)GCC>ACC	p.A255T	NAPRT1_uc003yyn.3_Missense_Mutation_p.A255T|NAPRT1_uc011lkh.1_Missense_Mutation_p.A255T|NAPRT1_uc003yyo.3_Missense_Mutation_p.A255T	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain	255					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCAGGTGGGCACACACCTGC	0.677													T	144658934	C	T	144658934	3	4	63	1	0	0	0	0	1	0	0	0	10165	710	25	2	885	2	NAPRT1	8	144658934	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	700659	144658934	1705088	841	45574											
SCRIB	23513	broad.mit.edu	37	chr8	144874959	144874959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctcggcctggggcacgcGcacctccagctcaaagtact	11	17	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:144874959G>A	uc003yzp.1	-	30	4103	c.4096C>T	c.(4096-4098)CGC>TGC	p.R1366C	SCRIB_uc003yzn.1_Missense_Mutation_p.R75C|SCRIB_uc003yzo.1_Missense_Mutation_p.R1366C	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1366					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGGGGCACGCGCACCTCCAGC	0.701													A	144874959	G	A	144874959	3	1	63	1	0	0	0	0	1	0	0	0	13937	1087	38	1	903	1	SCRIB	8	144874959	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	216025	144874959	1489063	842	45575											
SCRIB	23513	broad.mit.edu	37	chr8	144887175	144887175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcggcaatgcgggagaCgaagatgccctgcaggggag	17	11	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:144887175C>T	uc003yzp.1	-	20	2687	c.2680G>A	c.(2680-2682)GTC>ATC	p.V894I	SCRIB_uc003yzn.1_5'Flank|SCRIB_uc003yzo.1_Missense_Mutation_p.V894I	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	894	PDZ 2.|Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ATGCGGGAGACGAAGATGCCC	0.662													T	144887175	C	T	144887175	3	4	63	1	0	0	0	0	1	0	0	0	13937	536	19	1	2359	1	SCRIB	8	144887175	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	12216	144887175	1476847	843	45576											
SCRIB	23513	broad.mit.edu	37	chr8	144892860	144892860	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcctcaccctcatacccgcTtctcagctgcagcttcctca	4	19	4	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:144892860T>A	uc003yzp.1	-	12	1407	c.1400A>T	c.(1399-1401)AAG>ATG	p.K467M	SCRIB_uc003yzo.1_Missense_Mutation_p.K467M	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	467	Potential.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCATACCCGCTTCTCAGCTGC	0.652													A	144892860	T	A	144892860	3	1	63	1	0	0	0	0	1	0	0	0	13937	1609	56	5	3671	5	SCRIB	8	144892860	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	5685	144892860	1471162	844	45577											
PLEC	5339	broad.mit.edu	37	chr8	144996946	144996946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccacacgcagcttgaggCgctcagcctcagcgctcatc	11	17	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:144996946C>T	uc003zaf.1	-	31	7732	c.7562G>A	c.(7561-7563)CGC>CAC	p.R2521H	PLEC_uc003zab.1_Missense_Mutation_p.R2384H|PLEC_uc003zac.1_Missense_Mutation_p.R2388H|PLEC_uc003zad.2_Missense_Mutation_p.R2384H|PLEC_uc003zae.1_Missense_Mutation_p.R2352H|PLEC_uc003zag.1_Missense_Mutation_p.R2362H|PLEC_uc003zah.2_Missense_Mutation_p.R2370H|PLEC_uc003zaj.2_Missense_Mutation_p.R2411H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2521	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CAGCTTGAGGCGCTCAGCCTC	0.701													T	144996946	C	T	144996946	3	4	63	1	0	0	0	0	1	0	0	0	12052	768	27	1	6500	1	PLEC	8	144996946	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	104086	144996946	1367076	845	45578											
PARP10	84875	broad.mit.edu	37	chr8	145058891	145058891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgggctcacaggccctgCcttctccagagaccccatgg	10	17	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:145058891C>T	uc003zal.3	-	5	1387	c.1279G>A	c.(1279-1281)GCA>ACA	p.A427T	PARP10_uc003zak.3_Missense_Mutation_p.A133T|PARP10_uc011lku.1_Missense_Mutation_p.A439T|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.A427T|PARP10_uc010mfn.1_Missense_Mutation_p.A342T|PARP10_uc010mfo.1_3'UTR	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	427						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAGGCCCTGCCTTCTCCAGA	0.627													T	145058891	C	T	145058891	3	4	63	1	0	0	0	0	1	0	0	0	11455	739	26	2	1826	2	PARP10	8	145058891	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	61945	145058891	1305131	846	45579											
OPLAH	26873	broad.mit.edu	37	chr8	145109542	145109542	+	Frame_Shift_Del	DEL	G	G	-													ctgttgcagcatggtggagtGggggggcatggagcctggtg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:145109541_145109541TG>T	uc003zar.3	-	18	2691	c.2609_2609CA>A	c.(2608-2610)cacfs	p.H870fs	OPLAH_uc003zas.1_Frame_Shift_Del_p.P144fs	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	870							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CATGGTGGAGTGGGGGGGCAT	0.637													-	145109542	G	-	145109542	7	5	63	1	0	1	0	1	0	0	0	0	10876	1348	47	0	1296	0	OPLAH	8	145109542	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	50651	145109542	1254480	847	45580											
OPLAH	26873	broad.mit.edu	37	chr8	145112163	145112163	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcgatggcacatgcatGctgcccaccagctcccccaa	10	18	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:145112163G>T	uc003zar.3	-	11	1565	c.1483C>A	c.(1483-1485)CAT>AAT	p.H495N	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	495							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GCACATGCATGCTGCCCACCA	0.657													T	145112163	G	T	145112163	3	4	63	1	0	0	0	0	1	0	0	0	10876	1319	46	5	2453	5	OPLAH	8	145112163	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2621	145112163	1251859	848	45581											
DGAT1	8694	broad.mit.edu	37	chr8	145540281	145540281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggacgtacatgaggacgGctattggctgtccgatgatg	15	8	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:145540281G>A	uc003zbv.3	-	17	1671	c.1403C>T	c.(1402-1404)GCC>GTC	p.A468V	DGAT1_uc010mfv.2_Silent_p.S302S	NM_012079	NP_036211	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	468	Lumenal (Potential).				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CATGAGGACGGCTATTGGCTG	0.602													A	145540281	G	A	145540281	3	1	63	1	0	0	0	0	1	0	0	0	4457	1203	42	2	67	2	DGAT1	8	145540281	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	428118	145540281	823741	849	45582											
ARHGAP39	80728	broad.mit.edu	37	chr8	145806354	145806354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctgccctcacggctgaCgctgctgccgcgcccggggc	16	17	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:145806354C>T	uc003zdt.1	-	4	943	c.388G>A	c.(388-390)GTC>ATC	p.V130I	ARHGAP39_uc011llk.1_Missense_Mutation_p.V130I|ARHGAP39_uc003zds.1_Missense_Mutation_p.V130I	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	130					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						TCACGGCTGACGCTGCTGCCG	0.726													T	145806354	C	T	145806354	3	4	63	1	0	0	0	0	1	0	0	0	884	536	19	1	2996	1	ARHGAP39	8	145806354	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	266073	145806354	557668	850	45583											
KANK1	23189	broad.mit.edu	37	chr9	744580	744580	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgtcaactttgcaaaagcCcagtctccggtcagtgttgt	9	11	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:744580C>A	uc003zgl.1	+	15	4636	c.3987C>A	c.(3985-3987)GCC>GCA	p.A1329A	KANK1_uc003zgn.1_Silent_p.A1329A|KANK1_uc003zgs.1_Silent_p.A1171A|KANK1_uc010mgx.1_Silent_p.A307A|KANK1_uc010mgy.1_Silent_p.A241A|KANK1_uc003zgt.1_Silent_p.A241A	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	1329	ANK 5.				negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGCAAAAGCCCAGTCTCCGG	0.502													A	744580	C	A	744580	2	1	63	1	0	0	0	0	0	0	0	1	7976	610	22	5		5	KANK1	9	744580	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08		744580	140468851	851	45584											
SLC1A1	6505	broad.mit.edu	37	chr9	4585465	4585465	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatccacaatccttgacaaCgaagactcagacaccaagaa	6	12	1	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:4585465C>T	uc003zij.1	+	12	1718	c.1482C>T	c.(1480-1482)AAC>AAT	p.N494N	C9orf68_uc003zik.2_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	solute carrier family 1, member 1	494					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	TCCTTGACAACGAAGACTCAG	0.468													T	4585465	C	T	4585465	2	4	63	1	0	0	0	0	0	0	0	1	14431	535	19	1		1	SLC1A1	9	4585465	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3840885	4585465	136627966	852	45585											
ERMP1	79956	broad.mit.edu	37	chr9	5801292	5801293	+	Frame_Shift_Ins	INS	-	-	T													aaagttaaagttagcatggtINStttttttgtgctcttggcaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:5801291_5801292G>GT	uc003zjm.1	-	10	2005_2006	c.1951_1952C>AC	c.(1951-1953)accfs	p.T651fs	ERMP1_uc022bdc.1_Non-coding_Transcript|ERMP1_uc022bdd.1_Non-coding_Transcript|ERMP1_uc010mhs.1_Frame_Shift_Ins_p.T265fs	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	Homo sapiens endoplasmic reticulum metallopeptidase 1 (ERMP1), mRNA.	651					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AGTTAGCATGGTTTTTTTTGTG	0.361													T	5801293	-	T	5801292	7	5	63	1	0	1	1	0	0	0	0	0	5236	1725	60	0	783	0	ERMP1	9	5801292	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1215827	5801292	135412139	853	45586											
PSIP1	11168	broad.mit.edu	37	chr9	15468955	15468955	+	Splice_Site	DEL	T	T	-													catgacttgaaatcacttacTtttttcagtgtagtaatcat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:15468954_15468954CT>C	uc003zlv.4	-	13	1536	c.1206_splice	c.e13+1	p.K402_splice	PSIP1_uc003zlw.4_Splice_Site_p.K402_splice	NM_033222	NP_150091	O75475	PSIP1_HUMAN	Homo sapiens PC4 and SFRS1 interacting protein 1 (PSIP1), transcript variant 2, mRNA.	402					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	DNA secondary structure binding|RNA polymerase II transcription coactivator activity|activating transcription factor binding|chromatin binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		AAATCACTTACTTTTTTCAGT	0.318													-	15468955	T	-	15468955	8	5	63	1	0	1	0	1	0	0	1	0	12663	1623	56	0	402	0	PSIP1	9	15468955	Splice_Site	DEL	T	TCGA-BR-8078-01A-11D-2340-08	9667663	15468955	125744476	854	45587											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18680350	18680351	+	Frame_Shift_Ins	INS	-	-	G													cgcgtgctcctcctcgtgtgINSgggggggcatccagagccgg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:18680349_18680350T>TG	uc003zne.4	+	10	1328_1329	c.1176_1177T>TG	c.(1174-1179)tgtgggfs	p.C392fs	ADAMTSL1_uc003znb.3_Frame_Shift_Ins_p.C375fs|ADAMTSL1_uc003znc.4_Frame_Shift_Ins_p.C392fs	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	392	TSP type-1 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTCCTCGTGTGGGGGGGGCAT	0.584													G	18680351	-	G	18680350	7	5	63	1	0	1	1	0	0	0	0	0	274	1348	47	0	1219	0	ADAMTSL1	9	18680350	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	3211395	18680350	122533081	855	45588											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18829843	18829843	+	Splice_Site	DEL	C	C	-													ccctctgccttctcacagatCccccccaagtccccacacag							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:18829842_18829842TC>T	uc003zne.4	+	23	4267	c.4115_splice	c.e23-1	p.D1372_splice	ADAMTSL1_uc003znf.4_Splice_Site_p.D73_splice	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1372						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCTCACAGATCCCCCCCAAG	0.567													-	18829843	C	-	18829843	8	5	63	1	0	1	0	1	0	0	1	0	274	855	30	0	4211	0	ADAMTSL1	9	18829843	Splice_Site	DEL	C	TCGA-BR-8078-01A-11D-2340-08	149493	18829843	122383588	856	45589											
KIAA1797	54914	broad.mit.edu	37	chr9	20988333	20988333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacccttttcatttcaggcGttttgaagagaatggagtgg	11	6	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:20988333G>A	uc003zog.1	+	43	5272	c.4909G>A	c.(4909-4911)GTT>ATT	p.V1637I	KIAA1797_uc003zoh.1_Missense_Mutation_p.V1073I	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	1637						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		CATTTCAGGCGTTTTGAAGAG	0.378													A	20988333	G	A	20988333	3	1	63	1	0	0	0	0	1	0	0	0	8258	1145	40	1	5067	1	KIAA1797	9	20988333	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2158490	20988333	120225098	857	45590											
UBAP1	51271	broad.mit.edu	37	chr9	34242049	34242049	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatcctcccagatgccttcCctctctgttttgtctgtgtg	7	14	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:34242049C>A	uc003ztx.2	+	4	1261	c.1026C>A	c.(1024-1026)TCC>TCA	p.S342S	UBAP1_uc010mka.1_Silent_p.S378S|UBAP1_uc003zty.2_Silent_p.S342S|UBAP1_uc011loi.1_Silent_p.S378S|UBAP1_uc011loj.1_Silent_p.S406S|KIF24_uc010mkb.2_Intron|UBAP1_uc003ztz.2_Silent_p.S342S	NM_016525	NP_057609	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	342						cytoplasm					0			LUSC - Lung squamous cell carcinoma(29;0.00272)			AGATGCCTTCCCTCTCTGTTT	0.512													A	34242049	C	A	34242049	2	1	63	1	0	0	0	0	0	0	0	1	16833	610	22	5		5	UBAP1	9	34242049	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	13253716	34242049	106971382	858	45591											
KIF24	347240	broad.mit.edu	37	chr9	34256536	34256537	+	Frame_Shift_Del	DEL	CA	CA	-													gggacagcatgaccgtttttCacagtgctggtcacctggat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:34256535_34256536TCA>T	uc003zua.4	-	10	3189_3190	c.3069_3070TGA>A	c.(3067-3072)gtgaaafs	p.V1023fs	KIF24_uc010mkb.3_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	Homo sapiens kinesin family member 24 (KIF24), mRNA.	1023					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TGACCGTTTTTCACAGTGCTGG	0.559													-	34256537	CA	-	34256536	7	5	63	1	0	1	0	1	0	0	0	0	8292	813	29	0	1049	0	KIF24	9	34256536	Frame_Shift_Del	DEL	CA	TCGA-BR-8078-01A-11D-2340-08	14487	34256536	106956895	859	45592											
ENHO	375704	broad.mit.edu	37	chr9	34521676	34521676	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggcgatgagggccccctgGgagatggctgcccccatgac	15	13	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:34521676G>T	uc003zun.1	-	2	442	c.18C>A	c.(16-18)TCC>TCA	p.S6S	ENHO_uc003zuo.2_RNA	NM_198573	NP_940975	Q6UWT2	ENHO_HUMAN	adropin precursor	6						extracellular region					0						GGGCCCCCTGGGAGATGGCTG	0.642													T	34521676	G	T	34521676	2	4	63	1	0	0	0	0	0	0	0	1	5119	1219	43	5		5	ENHO	9	34521676	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	265140	34521676	106691755	860	45593											
C9orf131	138724	broad.mit.edu	37	chr9	35043650	35043650	+	Frame_Shift_Del	DEL	C	C	-													cttttgagcctccgatgccaCccccctgccaatccccagct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:35043649_35043649AC>A	uc003zvw.3	+	1	1052	c.1023_1023AC>A	c.(1021-1023)ccafs	p.P341fs	C9orf131_uc003zvu.3_Frame_Shift_Del_p.P293fs|C9orf131_uc003zvv.3_Frame_Shift_Del_p.P268fs|C9orf131_uc003zvx.3_Frame_Shift_Del_p.P306fs	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	341										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCCGATGCCACCCCCCTGCC	0.527													-	35043650	C	-	35043650	7	5	63	1	0	1	0	1	0	0	0	0	2457	507	18	0	1046	0	C9orf131	9	35043650	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	521974	35043650	106169781	861	45594											
RUSC2	9853	broad.mit.edu	37	chr9	35560416	35560416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgggggctcagggcgtgCcaggtgggcccgaggtgggc	22	11	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:35560416C>T	uc003zww.2	+	10	4034	c.3779C>T	c.(3778-3780)GCC>GTC	p.A1260V	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.A1260V	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1260						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TCAGGGCGTGCCAGGTGGGCC	0.488													T	35560416	C	T	35560416	3	4	63	1	0	0	0	0	1	0	0	0	13751	739	26	2	3813	2	RUSC2	9	35560416	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	516766	35560416	105653015	862	45595											
CD72	971	broad.mit.edu	37	chr9	35612993	35612993	+	Splice_Site	DEL	A	A	-													ccgacggacagcaggtgtctAaaaagcagaaagagtgtgat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:35612992_35612992TA>T	uc003zxb.2	-	6	813	c.689_splice	c.e6-1	p.D230_splice	CD72_uc010mkt.1_Splice_Site_p.D15_splice|CD72_uc010mku.2_Intron	NM_001782	NP_001773	P21854	CD72_HUMAN	Homo sapiens CD72 molecule (CD72), mRNA.	230					axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCAGGTGTCTAAAAAGCAGA	0.418													-	35612993	A	-	35612993	8	5	63	1	0	1	0	1	0	0	1	0	3034	377	13	0		0	CD72	9	35612993	Splice_Site	DEL	A	TCGA-BR-8078-01A-11D-2340-08	52577	35612993	105600438	863	45596											
PAX5	5079	broad.mit.edu	37	chr9	36846850	36846850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtactcaccaagcagcccCgggttggggaacctccagga	12	14	1	0	rs143965433		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:36846850C>T	uc003zzo.1	-	9	1537	c.1089G>A	c.(1087-1089)CCG>CCA	p.P363P	PAX5_uc011lpt.1_Silent_p.P159P|PAX5_uc011lpu.1_RNA|PAX5_uc011lpv.1_Intron|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Silent_p.P263P|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Silent_p.P320P|PAX5_uc011lqa.1_Silent_p.P255P|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Silent_p.P329P|PAX5_uc010mlp.1_Intron|PAX5_uc011lqc.1_Intron|PAX5_uc010mlr.1_Missense_Mutation_p.R286Q	NM_016734	NP_057953	Q02548	PAX5_HUMAN	paired box 5	363					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(11)	PAX5/JAK2(18)	haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2)	147		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CAAGCAGCCCCGGGTTGGGGA	0.627			T|Mis|D|F|S	IGH@|ETV6|PML|FOXP1|ZNF521|ELN	NHL|ALL|B-ALL								T	36846850	C	T	36846850	2	4	63	1	0	0	0	0	0	0	0	1	11482	639	23	1		1	PAX5	9	36846850	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1233857	36846850	104366581	864	45597											
FBXO10	26267	broad.mit.edu	37	chr9	37516069	37516069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcccggaacgagtggatcCggttctttattacctgggag	14	9	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:37516069C>T	uc004aab.2	-	10	2577	c.2528G>A	c.(2527-2529)CGG>CAG	p.R843Q	FBXO10_uc004aac.2_Missense_Mutation_p.R859Q|FBXO10_uc004aad.2_Missense_Mutation_p.R393Q	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	F-box protein 10	843	PbH1 17.					ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)		CGAGTGGATCCGGTTCTTTAT	0.408													T	37516069	C	T	37516069	3	4	63	1	0	0	0	0	1	0	0	0	5726	652	23	1	350	1	FBXO10	9	37516069	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	669219	37516069	103697362	865	45598											
PGM5	5239	broad.mit.edu	37	chr9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattattggacagaatggcAtcttgtcgacacctgcggtc	11	9	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478													G	70993145	A	G	70993145	3	3	63	1	0	0	0	0	1	0	0	0	11801	217	8	3	298	3	PGM5	9	70993145	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	33477076	70993145	70220286	866	45599											
APBA1	320	broad.mit.edu	37	chr9	72131694	72131694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcaggtggttgggcagcgCgcggcggtgcgtggcctcgg	22	10	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:72131694C>T	uc004ahh.2	-	2	709	c.433G>A	c.(433-435)GCG>ACG	p.A145T		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	145					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						TTGGGCAGCGCGCGGCGGTGC	0.687													T	72131694	C	T	72131694	3	4	63	1	0	0	0	0	1	0	0	0	756	768	27	1	2128	1	APBA1	9	72131694	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1138549	72131694	69081737	867	45600											
ALDH1A1	216	broad.mit.edu	37	chr9	75526891	75526891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctcctctttggcaatgcGcatctcatctgtaacattag	6	12	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:75526891G>A	uc004ajd.2	-	10	1236	c.1183C>T	c.(1183-1185)CGC>TGC	p.R395C	ALDH1A1_uc011lsh.1_Missense_Mutation_p.R316C|ALDH1A1_uc011lsg.1_Missense_Mutation_p.R221C	NM_000689	NP_000680	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1A1	395					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			ovary(3)|lung(1)	4					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TTGGCAATGCGCATCTCATCT	0.438													A	75526891	G	A	75526891	3	1	63	1	0	0	0	0	1	0	0	0	490	1087	38	1	338	1	ALDH1A1	9	75526891	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3395197	75526891	65686540	868	45601											
C9orf41	138199	broad.mit.edu	37	chr9	77614678	77614678	+	Frame_Shift_Del	DEL	A	A	-													aagttggaagaaaagagcatAaaaaaactccattcatttcc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:77614677_77614677TA>T	uc004ajq.3	-	3	853	c.700_700TA>A	c.(700-702)atgfs	p.M234fs	C9orf41_uc011lsi.1_Intron	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN	Homo sapiens chromosome 9 open reading frame 41 (C9orf41), mRNA.	234										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						GAAAAGAGCATAAAAAAACTC	0.343													-	77614678	A	-	77614678	7	5	63	1	0	1	0	1	0	0	0	0	2482	359	13	0	550	0	C9orf41	9	77614678	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	2087787	77614678	63598753	869	45602											
FOXB2	442425	broad.mit.edu	37	chr9	79635623	79635623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtcccggtcaagtccctGtgccactcggcaagccagag	14	14	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:79635623G>A	uc004ako.1	+	1	1053	c.1053G>A	c.(1051-1053)CTG>CTA	p.L351L		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	351					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						TCAAGTCCCTGTGCCACTCGG	0.592													A	79635623	G	A	79635623	2	1	63	1	0	0	0	0	0	0	0	1	5993	1364	48	4		4	FOXB2	9	79635623	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2020945	79635623	61577808	870	45603											
VPS13A	23230	broad.mit.edu	37	chr9	79836274	79836274	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttctcgtgtctttggaggTtagcatttaaaatgaaattg	9	5	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:79836274T>C	uc004akr.2	+	13	1421	c.1161_splice	c.e13+2	p.E387_splice	VPS13A_uc004akp.3_Splice_Site_p.E387_splice|VPS13A_uc004akq.3_Splice_Site_p.E387_splice|VPS13A_uc004aks.2_Splice_Site_p.E387_splice	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A						Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						TCTTTGGAGGTTAGCATTTAA	0.328													C	79836274	T	C	79836274	5	2	63	1	0	0	0	0	0	0	1	0	17186	1739	60	3	1213	3	VPS13A	9	79836274	Splice_Site	SNP	T	TCGA-BR-8078-01A-11D-2340-08	200651	79836274	61377157	871	45604											
DAPK1	1612	broad.mit.edu	37	chr9	90313686	90313686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatatgacaaagacacatcGttgctgaaagagattaggaa	11	5	0	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:90313686G>A	uc004apc.2	+	23	2865	c.2727G>A	c.(2725-2727)TCG>TCA	p.S909S	DAPK1_uc004apd.2_Silent_p.S909S|DAPK1_uc011ltg.1_Silent_p.S843S|DAPK1_uc011lth.1_Silent_p.S646S	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	909					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						AAGACACATCGTTGCTGAAAG	0.527									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				A	90313686	G	A	90313686	2	1	63	1	0	0	0	0	0	0	0	1	4235	1132	40	1		1	DAPK1	9	90313686	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	10477412	90313686	50899745	872	45605											
S1PR3	1903	broad.mit.edu	37	chr9	91617139	91617139	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagaagtaaatcaagcagcAgcaacaatagcagccactct	8	11	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:91617139A>G	uc004aqe.2	+	2	1420	c.1024A>G	c.(1024-1026)AGC>GGC	p.S342G		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	342	Cytoplasmic (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						ATCAAGCAGCAGCAACAATAG	0.592													G	91617139	A	G	91617139	3	3	63	1	0	0	0	0	1	0	0	0	13795	188	7	3	1026	3	S1PR3	9	91617139	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	1303453	91617139	49596292	873	45606											
SHC3	53358	broad.mit.edu	37	chr9	91661763	91661763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactataagacttacctggGctgtgtcaggagcatggggt	13	7	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:91661763G>A	uc004aqg.2	-	8	1416	c.1109C>T	c.(1108-1110)GCC>GTC	p.A370V		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	370	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4						ACTTACCTGGGCTGTGTCAGG	0.428													A	91661763	G	A	91661763	3	1	63	1	0	0	0	0	1	0	0	0	14272	1203	42	2	695	2	SHC3	9	91661763	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	44624	91661763	49551668	874	45607											
SEMA4D	10507	broad.mit.edu	37	chr9	92017805	92017805	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcatgctgcttctcggagAtgttgagtgcgttcacagcg	12	11	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:92017805A>G	uc004aqo.1	-	6	805	c.233T>C	c.(232-234)ATC>ACC	p.I78T	SEMA4D_uc011ltm.1_Missense_Mutation_p.I78T|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.I76T	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	78	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						CTTCTCGGAGATGTTGAGTGC	0.607													G	92017805	A	G	92017805	3	3	63	1	0	0	0	0	1	0	0	0	14034	333	12	3	2977	3	SEMA4D	9	92017805	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	356042	92017805	49195626	875	45608											
SYK	6850	broad.mit.edu	37	chr9	93624564	93624564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtgctgcactatcgcatcGacaaagacaagacagggaag	12	9	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:93624564G>A	uc004aqz.2	+	4	860	c.655G>A	c.(655-657)GAC>AAC	p.D219N	SYK_uc004aqy.2_Missense_Mutation_p.D219N|SYK_uc004ara.2_Missense_Mutation_p.D219N|SYK_uc004arb.2_Missense_Mutation_p.D219N|SYK_uc004arc.2_Missense_Mutation_p.D219N|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	219	SH2 2.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						CTATCGCATCGACAAAGACAA	0.572			T	ETV6|ITK	MDS|peripheral T-cell lymphoma								A	93624564	G	A	93624564	3	1	63	1	0	0	0	0	1	0	0	0	15435	1058	37	1	665	1	SYK	9	93624564	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1606759	93624564	47588867	876	45609											
PTCH1	5727	broad.mit.edu	37	chr9	98209617	98209617	+	Frame_Shift_Del	DEL	G	G	-													ggtggccacaagccttctctGggggggtccctgcggggctg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:98209616_98209616TG>T	uc004avk.4	-	22	4110	c.3922_3922CA>A	c.(3922-3924)agafs	p.R1308fs	PTCH1_uc010mrn.3_Frame_Shift_Del_p.R100fs|PTCH1_uc010mro.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc010mrp.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc010mrq.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc004avl.4_Frame_Shift_Del_p.R1157fs|PTCH1_uc004avm.4_Frame_Shift_Del_p.R1307fs|PTCH1_uc010mrr.3_Frame_Shift_Del_p.R1242fs	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1308					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.R1308G(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAGCCTTCTCTGGGGGGGTCC	0.662													-	98209617	G	-	98209617	7	5	63	1	0	1	0	1	0	0	0	0	12730	1335	47	0	426	0	PTCH1	9	98209617	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	4585053	98209617	43003814	877	45610											
TEX10	54881	broad.mit.edu	37	chr9	103090222	103090222	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtaagccagccagccaacGggataacactttactacgat	9	11	0	0	rs147616848		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:103090222G>T	uc004bas.2	-	8	1863	c.1648C>A	c.(1648-1650)CGT>AGT	p.R550S	TEX10_uc011lvf.1_Missense_Mutation_p.R389S|TEX10_uc011lvg.1_Missense_Mutation_p.R553S	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10 isoform 1	550						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		GCCAGCCAACGGGATAACACT	0.373													T	103090222	G	T	103090222	3	4	63	1	0	0	0	0	1	0	0	0	15769	1116	39	5	1173	5	TEX10	9	103090222	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	4880605	103090222	38123209	878	45611											
SMC2	10592	broad.mit.edu	37	chr9	106862422	106862422	+	Frame_Shift_Del	DEL	A	A	-													gaaccaggatgtatgaatacAaaaaaatagctgcacagaaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:106862422delA	uc004bbv.2	+	6	817	c.529delA	c.(529-531)AAAfs	p.K177fs	SMC2_uc004bbu.1_Frame_Shift_Del_p.K177fs|SMC2_uc004bbw.2_Frame_Shift_Del_p.K177fs|SMC2_uc011lvl.1_Frame_Shift_Del_p.K177fs|SMC2_uc010mtg.1_Frame_Shift_Del_p.K32fs|SMC2_uc010mth.1_Frame_Shift_Del_p.K127fs|SMC2_uc004bbx.2_Frame_Shift_Del_p.K177fs	NM_001042551	NP_001036016	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	177	Potential.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						GTATGAATACAAAAAAATAGC	0.313													-	106862422	A	-	106862422	7	5	63	1	0	1	0	1	0	0	0	0	14783	131	5	0	547	0	SMC2	9	106862422	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	3772200	106862422	34351009	879	45612											
NIPSNAP3B	55335	broad.mit.edu	37	chr9	107513348	107513348	+	Frame_Shift_Del	DEL	A	A	-													agttcctggaaaattttgagAaaaacgctcatcttcggaca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:107513347_107513347GA>G	uc004bch.1	+	1	276	c.171_171GA>G	c.(169-171)gagfs	p.E57fs	NIPSNAP3B_uc011lvt.2_Frame_Shift_Del_p.E57fs|NIPSNAP3B_uc011lvu.1_Frame_Shift_Del_p.E57fs	NM_015469	NP_056284	Q9BS92	NPS3B_HUMAN	Homo sapiens nipsnap homolog 3A (C. elegans) (NIPSNAP3A), mRNA.	57										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						AAAATTTTGAGAAAAACGCTC	0.388													-	107513348	A	-	107513348	7	5	63	1	0	1	0	1	0	0	0	0	10431	247	9	0		0	NIPSNAP3B	9	107513348	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	650926	107513348	33700083	880	45613											
ABCA1	19	broad.mit.edu	37	chr9	107546689	107546689	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttgtgtaatgagaggtcTtttaagtggtcatcatcact	9	5	4	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:107546689T>C	uc004bcl.2	-	50	7006	c.6693A>G	c.(6691-6693)AAA>AAG	p.K2231K	NIPSNAP3B_uc004bcj.1_Intron	NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	2231					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATGAGAGGTCTTTTAAGTGGT	0.373													C	107546689	T	C	107546689	2	2	63	1	0	0	0	0	0	0	0	1	28	1606	56	3		3	ABCA1	9	107546689	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	33341	107546689	33666742	881	45614											
SVEP1	79987	broad.mit.edu	37	chr9	113243565	113243565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatatgttggtttccagacGccatcttcataagcacaata	7	9	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:113243565G>A	uc010mtz.2	-	12	2659	c.2322C>T	c.(2320-2322)GGC>GGT	p.G774G	SVEP1_uc010mua.1_Silent_p.G774G|SVEP1_uc004beu.2_Silent_p.G774G	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	774	Sushi 4.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GTTTCCAGACGCCATCTTCAT	0.383													A	113243565	G	A	113243565	2	1	63	1	0	0	0	0	0	0	0	1	15417	1074	38	1		1	SVEP1	9	113243565	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	5696876	113243565	27969866	882	45615											
SVEP1	79987	broad.mit.edu	37	chr9	113341676	113341676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttcgtcgccaggagcggGcggcgcggggatactcccgg	18	14	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:113341676G>A	uc010mtz.2	-	1	485	c.148C>T	c.(148-150)CCC>TCC	p.P50S	SVEP1_uc010mua.1_Missense_Mutation_p.P50S|SVEP1_uc004beu.2_Missense_Mutation_p.P50S|uc004bew.1_RNA	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	50					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CCAGGAGCGGGCGGCGCGGGG	0.741													A	113341676	G	A	113341676	3	1	63	1	0	0	0	0	1	0	0	0	15417	1203	42	2	10759	2	SVEP1	9	113341676	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	98111	113341676	27871755	883	45616											
OR2K2	26248	broad.mit.edu	37	chr9	114090466	114090466	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgggatgacagcaagttcAccagcaaagtaggaacagag	12	8	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:114090466A>G	uc011lwp.1	-	1	248	c.248T>C	c.(247-249)GTG>GCG	p.V83A		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K,	112	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CAGCAAGTTCACCAGCAAAGT	0.458													G	114090466	A	G	114090466	3	3	63	1	0	0	0	0	1	0	0	0	11005	159	6	3	705	3	OR2K2	9	114090466	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	748790	114090466	27122965	884	45617											
PTGR1	22949	broad.mit.edu	37	chr9	114359602	114359602	+	Frame_Shift_Del	DEL	T	T	-													tttagtatgacttacctccaTtttttaagggtgggagctca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:114359601_114359601AT>A	uc010mue.3	-	1	365	c.102_102AT>T	c.(100-102)aatfs	p.N34fs	PTGR1_uc011lwr.2_Frame_Shift_Del_p.N34fs|PTGR1_uc004bfh.2_Frame_Shift_Del_p.N34fs|PTGR1_uc004bfi.3_Frame_Shift_Del_p.N34fs|PTGR1_uc004bfj.3_5'UTR	NM_001146109	NP_001139581	Q14914	PTGR1_HUMAN	Homo sapiens prostaglandin reductase 1 (PTGR1), transcript variant 3, mRNA.	34					leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						ACTTACCTCCATTTTTTAAGG	0.398													-	114359602	T	-	114359602	7	5	63	1	0	1	0	1	0	0	0	0	12753	1493	52	0	955	0	PTGR1	9	114359602	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	269136	114359602	26853829	885	45618											
KIAA1958	158405	broad.mit.edu	37	chr9	115421607	115421607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgtcaagaagagcgacgGctcggacttcctggccacct	11	15	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:115421607G>A	uc004bgf.1	+	4	1584	c.1409G>A	c.(1408-1410)GGC>GAC	p.G470D	KIAA1958_uc011lwx.1_Missense_Mutation_p.G498D	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	470										skin(1)	1						AAGAGCGACGGCTCGGACTTC	0.542													A	115421607	G	A	115421607	3	1	63	1	0	0	0	0	1	0	0	0	8264	1203	42	2	1419	2	KIAA1958	9	115421607	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1062005	115421607	25791824	886	45619											
KIAA1958	158405	broad.mit.edu	37	chr9	115421907	115421907	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagccagtacctgaacatgcGgacgctgcaggagcatgcgg	14	12	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:115421907G>T	uc004bgf.1	+	4	1884	c.1709G>T	c.(1708-1710)CGG>CTG	p.R570L	KIAA1958_uc011lwx.1_Missense_Mutation_p.R598L	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	570										skin(1)	1						CTGAACATGCGGACGCTGCAG	0.582													T	115421907	G	T	115421907	3	4	63	1	0	0	0	0	1	0	0	0	8264	1116	39	5	1719	5	KIAA1958	9	115421907	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	300	115421907	25791524	887	45620											
SLC46A2	57864	broad.mit.edu	37	chr9	115652493	115652493	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccagcgatcccagcgccaTgaccccggaccagaaggcgg	13	17	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:115652493T>C	uc004bgk.2	-	1	701	c.469A>G	c.(469-471)ATG>GTG	p.M157V		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	157	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)	1						CCCAGCGCCATGACCCCGGAC	0.687													C	115652493	T	C	115652493	3	2	63	1	0	0	0	0	1	0	0	0	14645	1464	51	3	974	3	SLC46A2	9	115652493	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	230586	115652493	25560938	888	45621											
POLE3	54107	broad.mit.edu	37	chr9	116171195	116171195	+	Frame_Shift_Del	DEL	T	T	-													gtcttgctcttccgagtctgTttttttgtctttgtccttct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:116171195delT	uc011lxg.1	-	4	722	c.340delA	c.(340-342)ACAfs	p.T114fs	POLE3_uc004bhn.2_Frame_Shift_Del_p.T114fs|C9orf43_uc004bho.3_5'Flank|C9orf43_uc004bhp.2_5'Flank	NM_017443	NP_059139	Q9NRF9	DPOE3_HUMAN	DNA-directed DNA polymerase epsilon 3	114	Potential.				DNA replication|histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex	DNA-directed DNA polymerase activity|protein binding|sequence-specific DNA binding				0						tccgagtctgtttttttgtct	0.199													-	116171195	T	-	116171195	7	5	63	1	0	1	0	1	0	0	0	0	12198	1725	60	0	107	0	POLE3	9	116171195	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	518702	116171195	25042236	889	45622											
COL27A1	85301	broad.mit.edu	37	chr9	117050984	117050984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtctttgtcattcagggCcctgtgggtgatcgaggaga	15	7	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:117050984C>T	uc011lxl.1	+	43	4047	c.4047C>T	c.(4045-4047)GGC>GGT	p.G1349G	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	1349	Collagen-like 12.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						TCATTCAGGGCCCTGTGGGTG	0.622													T	117050984	C	T	117050984	2	4	63	1	0	0	0	0	0	0	0	1	3685	726	26	2		2	COL27A1	9	117050984	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	879789	117050984	24162447	890	45623											
COL27A1	85301	broad.mit.edu	37	chr9	117071541	117071541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccgttgcttctctataggTcgagtttgccatcagccggg	12	11	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:117071541T>C	uc011lxl.1	+	60	5219	c.5219T>C	c.(5218-5220)GTC>GCC	p.V1740A	COL27A1_uc004bii.2_RNA|COL27A1_uc011lxn.1_Missense_Mutation_p.V55A	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	1740	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						TCTCTATAGGTCGAGTTTGCC	0.602													C	117071541	T	C	117071541	3	2	63	1	0	0	0	0	1	0	0	0	3685	1681	58	3	5457	3	COL27A1	9	117071541	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	20557	117071541	24141890	891	45624											
DFNB31	25861	broad.mit.edu	37	chr9	117266881	117266881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcgaagacgttgcggcgCgcgtggtaagcgttcaggca	17	9	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:117266881C>T	uc004biz.3	-	1	850	c.201G>A	c.(199-201)GCG>GCA	p.A67A	DFNB31_uc004biy.3_5'Flank|DFNB31_uc004bja.3_Silent_p.A67A|DFNB31_uc004bjb.2_Silent_p.A67A	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	67					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						CGTTGCGGCGCGCGTGGTAAG	0.677													T	117266881	C	T	117266881	2	4	63	1	0	0	0	0	0	0	0	1	4455	755	27	1		1	DFNB31	9	117266881	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	195340	117266881	23946550	892	45625											
MEGF9	1955	broad.mit.edu	37	chr9	123367553	123367553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcatcttccaacaatcccGaaacatctgcattgggaatg	6	12	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:123367553G>A	uc004bkj.1	-	8	1835	c.1835C>T	c.(1834-1836)TCG>TTG	p.S612L	MEGF9_uc011lyb.1_Missense_Mutation_p.S567L	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	575	Cytoplasmic (Potential).					integral to membrane	calcium ion binding				0						CAACAATCCCGAAACATCTGC	0.478													A	123367553	G	A	123367553	3	1	63	1	0	0	0	0	1	0	0	0	9464	1059	37	1	88	1	MEGF9	9	123367553	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	6100672	123367553	17845878	893	45626											
PTGS1	5742	broad.mit.edu	37	chr9	125145862	125145862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactacccccgaggcatcccGccccagagccagatggctgt	10	18	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:125145862G>A	uc004bmg.1	+	8	972	c.837G>A	c.(835-837)CCG>CCA	p.P279P	PTGS1_uc011lys.1_Silent_p.P254P|PTGS1_uc010mwb.1_Silent_p.P170P|PTGS1_uc004bmf.1_Silent_p.P279P|PTGS1_uc004bmh.1_Silent_p.P170P|PTGS1_uc011lyt.1_Silent_p.P170P	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	279					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|skin(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GAGGCATCCCGCCCCAGAGCC	0.627													A	125145862	G	A	125145862	2	1	63	1	0	0	0	0	0	0	0	1	12755	1074	38	1		1	PTGS1	9	125145862	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1778309	125145862	16067569	894	45627											
RABGAP1	23637	broad.mit.edu	37	chr9	125861042	125861042	+	Frame_Shift_Del	DEL	A	A	-													acaaggcagaatctgagattAaaaaaaacagttctatcatt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:125861041_125861041TA>T	uc011lzh.2	+	22	2915	c.2781_2781TA>T	c.(2779-2781)attfs	p.I927fs	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Frame_Shift_Del_p.I266fs	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	927					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AATCTGAGATTAAAAAAAACA	0.398													-	125861042	A	-	125861042	7	5	63	1	0	1	0	1	0	0	0	0	12964	363	13	0	2868	0	RABGAP1	9	125861042	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	715180	125861042	15352389	895	45628											
DENND1A	57706	broad.mit.edu	37	chr9	126319868	126319868	+	Frame_Shift_Del	DEL	T	T	-													ccggctcgattttcagagcgTttcggtagctaccgaagaaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:126319868delT	uc004bnz.1	-	13	1207	c.974delA	c.(973-975)AACfs	p.N325fs	DENND1A_uc011lzl.1_Intron|DENND1A_uc004bny.1_Frame_Shift_Del_p.N142fs|DENND1A_uc011lzm.1_Frame_Shift_Del_p.N293fs|DENND1A_uc004boa.1_Frame_Shift_Del_p.N325fs|DENND1A_uc004bob.1_Frame_Shift_Del_p.N295fs|DENND1A_uc004boc.2_Frame_Shift_Del_p.N293fs	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	325	dDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2						TTTCAGAGCGTTTCGGTAGCT	0.552													-	126319868	T	-	126319868	7	5	63	1	0	1	0	1	0	0	0	0	4426	1725	60	0	2202	0	DENND1A	9	126319868	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	458826	126319868	14893563	896	45629											
LHX2	9355	broad.mit.edu	37	chr9	126783458	126783458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagaagaccaagcgcatgCgcacgtccttcaagcaccac	9	16	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:126783458C>T	uc004boe.1	+	4	1547	c.808C>T	c.(808-810)CGC>TGC	p.R270C	LHX2_uc010mwi.1_Missense_Mutation_p.R278C	NM_004789	NP_004780	P50458	LHX2_HUMAN	LIM homeobox protein 2	270	Homeobox.					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CAAGCGCATGCGCACGTCCTT	0.572													T	126783458	C	T	126783458	3	4	63	1	0	0	0	0	1	0	0	0	8771	768	27	1	822	1	LHX2	9	126783458	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	463590	126783458	14429973	897	45630											
ARPC5L	81873	broad.mit.edu	37	chr9	127639218	127639218	+	Frame_Shift_Del	DEL	A	A	-													tacagcaagaaagactgtttAaaaaaaataaaaagactcat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:127639217_127639217TA>T	uc004bpa.4	+	3	546	c.460_460TA>T	c.(460-462)taafs	p.*154fs		NM_030978	NP_112240	Q9BPX5	ARP5L_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 5-like (ARPC5L), mRNA.	0					regulation of actin filament polymerization	cytoplasm|cytoskeleton	actin binding	p.?(1)		large_intestine(2)|lung(1)	3						AAAGACTGTTTAAAAAAAATA	0.438													-	127639218	A	-	127639218	7	5	63	1	0	1	0	1	0	0	0	0	975	369	13	0	475	0	ARPC5L	9	127639218	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	855760	127639218	13574213	898	45631											
GAPVD1	26130	broad.mit.edu	37	chr9	128088865	128088865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatcgcttgcaagaaattGcaggtaactgccatttaatg	9	7	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:128088865G>A	uc010mwx.2	+	12	2355	c.2029G>A	c.(2029-2031)GCA>ACA	p.A677T	GAPVD1_uc011lzs.1_Missense_Mutation_p.A677T|GAPVD1_uc004bpp.2_Missense_Mutation_p.A677T|GAPVD1_uc004bpq.2_Missense_Mutation_p.A677T|GAPVD1_uc004bpr.2_Missense_Mutation_p.A656T|GAPVD1_uc004bps.2_Missense_Mutation_p.A677T|GAPVD1_uc010mwy.1_Missense_Mutation_p.A536T	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	677					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GCAAGAAATTGCAGGTAACTG	0.428													A	128088865	G	A	128088865	3	1	63	1	0	0	0	0	1	0	0	0	6239	1319	46	2	2063	2	GAPVD1	9	128088865	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	449647	128088865	13124566	899	45632											
FAM129B	64855	broad.mit.edu	37	chr9	130289474	130289474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggggccaggcctcaccGctttgttttcgtagagcacc	12	15	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:130289474G>A	uc004brh.2	-	3	516	c.314C>T	c.(313-315)GCG>GTG	p.A105V	FAM129B_uc004bri.2_Missense_Mutation_p.A92V|FAM129B_uc004brj.3_Missense_Mutation_p.A105V	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	105	PH.						protein binding				0						AGGCCTCACCGCTTTGTTTTC	0.632													A	130289474	G	A	130289474	3	1	63	1	0	0	0	0	1	0	0	0	5437	1101	38	1	1974	1	FAM129B	9	130289474	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2200609	130289474	10923957	900	45633											
DOLPP1	57171	broad.mit.edu	37	chr9	131851261	131851261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttgcaggaacagacaacGcaagctggggacgaaactgc	13	9	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:131851261G>A	uc004bxc.2	+	8	720	c.692G>A	c.(691-693)CGC>CAC	p.R231H	DOLPP1_uc004bxd.2_Missense_Mutation_p.R188H|DOLPP1_uc004bxe.2_RNA|DOLPP1_uc004bxf.2_Missense_Mutation_p.R110H	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN	dolichyl pyrophosphate phosphatase 1 isoform a	231					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			skin(1)	1						AACAGACAACGCAAGCTGGGG	0.577													A	131851261	G	A	131851261	3	1	63	1	0	0	0	0	1	0	0	0	4704	1087	38	1	722	1	DOLPP1	9	131851261	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1561787	131851261	9362170	901	45634											
ABL1	25	broad.mit.edu	37	chr9	133760422	133760422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggctggaggaaagccctcGcagagcccgagccaggaggc	16	12	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:133760422G>A	uc004bzw.2	+	11	2748	c.2745G>A	c.(2743-2745)TCG>TCA	p.S915S	ABL1_uc004bzv.2_Silent_p.S934S	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	915	DNA-binding (By similarity).|Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GAAAGCCCTCGCAGAGCCCGA	0.652			T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL								A	133760422	G	A	133760422	2	1	63	1	0	0	0	0	0	0	0	1	92	1074	38	1		1	ABL1	9	133760422	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1909161	133760422	7453009	902	45635											
BAT2L1	84726	broad.mit.edu	37	chr9	134354775	134354775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagatctgggagagcagcaGccagggtgagagttgggggt	20	5	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:134354775G>A	uc004can.3	+	18	4950	c.4895G>A	c.(4894-4896)AGC>AAC	p.S1632N	BAT2L1_uc004cao.3_Missense_Mutation_p.S990N	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1632							protein binding				0						GAGAGCAGCAGCCAGGGTGAG	0.562													A	134354775	G	A	134354775	3	1	63	1	0	0	0	0	1	0	0	0	1320	971	34	2	4965	2	BAT2L1	9	134354775	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	594353	134354775	6858656	903	45636											
POMT1	10585	broad.mit.edu	37	chr9	134381551	134381553	+	In_Frame_Del	DEL	TCT	TCT	-													ctctttttacatgaaacaaaTcttcttcttggatgacagtg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:134381550_134381552ATCT>A	uc004cav.3	+	2	374_376	c.172_174ATCT>A	c.(172-174)atc>A	p.I58del	POMT1_uc011mci.1_In_Frame_Del_p.I58del|POMT1_uc004cax.3_In_Frame_Del_p.I58del|POMT1_uc011mcj.2_Intron|POMT1_uc004cau.3_In_Frame_Del_p.I58del|POMT1_uc004caw.3_In_Frame_Del_p.I4del|POMT1_uc011mck.2_Intron|POMT1_uc011mcl.2_Intron|POMT1_uc011mcm.2_Intron	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	58					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	p.I58M(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		CATGAAACAAATCTTCTTCTTGG	0.414													-	134381553	TCT	-	134381551	7	5	63	1	0	1	0	1	0	0	0	0	12245	1435	50	0	179	0	POMT1	9	134381551	In_Frame_Del	DEL	TCT	TCGA-BR-8078-01A-11D-2340-08	26776	134381551	6831880	904	45637											
CEL	1056	broad.mit.edu	37	chr9	135946988	135946989	+	Frame_Shift_Ins	INS	-	-	C													cccacgggtgactccggggcINScccccccgtgacccccacgg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:135946987_135946988G>GC	uc010naa.1	+	10	2123_2124	c.2107_2108G>GC	c.(2107-2109)gccfs	p.A703fs		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	700	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGACTCCGGGGCCCCCCCCGTG	0.822													C	135946989	-	C	135946988	7	5	63	1	0	1	1	0	0	0	0	0	3209	739	26	0	2150	0	CEL	9	135946988	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1565437	135946988	5266443	905	45638											
DBH	1621	broad.mit.edu	37	chr9	136517397	136517397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttgaagaaggtcgtgtcGgtccatccggtgagtgccca	14	9	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:136517397G>A	uc004cel.2	+	8	1374	c.1365G>A	c.(1363-1365)TCG>TCA	p.S455S		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	455	Intragranular (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	AGGTCGTGTCGGTCCATCCGG	0.617													A	136517397	G	A	136517397	2	1	63	1	0	0	0	0	0	0	0	1	4250	1103	39	1		1	DBH	9	136517397	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	570409	136517397	4696034	906	45639											
BRD3	8019	broad.mit.edu	37	chr9	136905314	136905316	+	In_Frame_Del	DEL	CTT	CTT	-													ttcttcttcttctccttctcCttcttctccttcttcttctt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:136905314_136905316delCTT	uc004cew.2	-	9	1671_1673	c.1483_1485delAAG	c.(1483-1485)AAGdel	p.K495del	BRD3_uc004cex.2_In_Frame_Del_p.K495del	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	495	Lys-rich.|Potential.					nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		tctccttctccttcttctccttc	0.34			T	NUT|C15orf55	lethal midline carcinoma of young people								-	136905316	CTT	-	136905314	7	5	63	1	0	1	0	1	0	0	0	0	1503	680	24	0	711	0	BRD3	9	136905314	In_Frame_Del	DEL	CTT	TCGA-BR-8078-01A-11D-2340-08	387917	136905314	4308117	907	45640											
KIAA0649	9858	broad.mit.edu	37	chr9	138376419	138376419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgggaggcctttggcccGccagggagctgtaggttccc	15	11	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:138376419G>A	uc004cfr.1	+	4	612	c.63G>A	c.(61-63)CCG>CCA	p.P21P		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	21						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		CCTTTGGCCCGCCAGGGAGCT	0.632													A	138376419	G	A	138376419	2	1	63	1	0	0	0	0	0	0	0	1	8187	1074	38	1		1	KIAA0649	9	138376419	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1471105	138376419	2837012	908	45641											
KCNT1	57582	broad.mit.edu	37	chr9	138670667	138670667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacgtgcagaccatgttcCggtgcgtccagtgtccgggg	14	12	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:138670667C>T	uc011mdq.1	+	23	2802	c.2728C>T	c.(2728-2730)CGG>TGG	p.R910W	KCNT1_uc011mdr.1_Missense_Mutation_p.R737W|KCNT1_uc010nbf.2_Missense_Mutation_p.R865W|KCNT1_uc004cgo.1_Missense_Mutation_p.R659W	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	910						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GACCATGTTCCGGTGCGTCCA	0.667													T	138670667	C	T	138670667	3	4	63	1	0	0	0	0	1	0	0	0	8091	666	23	1	2818	1	KCNT1	9	138670667	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	294248	138670667	2542764	909	45642											
LHX3	8022	broad.mit.edu	37	chr9	139091567	139091567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgccttgcacacgagccgGctgtcctccatgaggtagaa	11	14	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:139091567G>A	uc004cha.2	-	3	508	c.411C>T	c.(409-411)AGC>AGT	p.S137S	LHX3_uc004cgz.2_Silent_p.S142S	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN	LIM homeobox protein 3 isoform a	137	LIM zinc-binding 2.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		ACACGAGCCGGCTGTCCTCCA	0.637													A	139091567	G	A	139091567	2	1	63	1	0	0	0	0	0	0	0	1	8772	1194	42	2		2	LHX3	9	139091567	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	420900	139091567	2121864	910	45643											
NOTCH1	4851	broad.mit.edu	37	chr9	139391271	139391271	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgggacagccactcgcatTgaccattcaaactggtggac	11	13	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:139391271T>C	uc004chz.2	-	34	6920	c.6920A>G	c.(6919-6921)CAA>CGA	p.Q2307R		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2307	Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCACTCGCATTGACCATTCAA	0.662			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			C	139391271	T	C	139391271	3	2	63	1	0	0	0	0	1	0	0	0	10547	1812	63	3	751	3	NOTCH1	9	139391271	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	299704	139391271	1822160	911	45644											
DPP7	29952	broad.mit.edu	37	chr9	140008718	140008718	+	Frame_Shift_Del	DEL	C	C	-													ctccgcgaagaccagtagagCcccccgctcggccgccagct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:140008718delC	uc004clh.2	-	3	328	c.298delG	c.(298-300)GCTfs	p.A100fs	DPP7_uc011meq.1_Frame_Shift_Del_p.G123fs	NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	dipeptidyl peptidase 7 preproprotein	100						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		ACCAGTAGAGCCCCCCGCTCG	0.458													-	140008718	C	-	140008718	7	5	63	1	0	1	0	1	0	0	0	0	4731	739	26	0	1224	0	DPP7	9	140008718	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	617447	140008718	1204713	912	45645											
C9orf167	54863	broad.mit.edu	37	chr9	140174064	140174064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgggtggcgccgaggtcaCgcgcttcgtgctgcagaacg	17	13	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:140174064C>T	uc004cmn.2	+	2	1040	c.923C>T	c.(922-924)ACG>ATG	p.T308M	C9orf167_uc011mew.1_5'Flank	NM_017723	NP_060193	Q9NXH8	CI167_HUMAN	hypothetical protein LOC54863	308					chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity			pancreas(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000728)		GCCGAGGTCACGCGCTTCGTG	0.721													T	140174064	C	T	140174064	3	4	63	1	0	0	0	0	1	0	0	0	2468	536	19	1	925	1	C9orf167	9	140174064	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	165346	140174064	1039367	913	45646											
PNPLA7	375775	broad.mit.edu	37	chr9	140356679	140356679	+	Frame_Shift_Del	DEL	G	G	-													agggtgctgtagctgtcgatGggggggcgcaggtactcgca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:140356678_140356678TG>T	uc010ncj.1	-	30	3935	c.3598_3598CA>A	c.(3598-3600)atcfs	p.I1200fs	PNPLA7_uc004cnd.1_Frame_Shift_Del_p.I422fs|PNPLA7_uc004cne.1_Frame_Shift_Del_p.I441fs|PNPLA7_uc011mfa.1_Frame_Shift_Del_p.I583fs|PNPLA7_uc004cnf.2_Frame_Shift_Del_p.I1175fs|NELF_uc004cna.3_5'Flank|NELF_uc004cnb.3_5'Flank|NELF_uc004cmz.3_5'Flank|NELF_uc011mez.2_5'Flank|NELF_uc004cnc.3_5'Flank|NELF_uc022bqi.1_5'Flank	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	1175					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TAGCTGTCGATGGGGGGGCGC	0.652													-	140356679	G	-	140356679	7	5	63	1	0	1	0	1	0	0	0	0	12170	1335	47	0	451	0	PNPLA7	9	140356679	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	182615	140356679	856752	914	45647											
TUBB8	347688	broad.mit.edu	37	chr10	93798	93798	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttgtagggctccaccacGgtgtccgacaccttgggcga	14	13	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:93798G>A	uc001ifi.2	-	4	534	c.534C>T	c.(532-534)ACC>ACT	p.T178T	TUBB8_uc009xhe.2_Silent_p.T141T|TUBB8_uc010pzs.1_Silent_p.T106T	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 isoform 1	178					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GCTCCACCACGGTGTCCGACA	0.522													A	93798	G	A	93798	2	1	63	1	0	0	0	0	0	0	0	1	16758	1103	39	1		1	TUBB8	10	93798	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08		93798	135440949	915	45648											
PFKP	5214	broad.mit.edu	37	chr10	3172106	3172106	+	Frame_Shift_Del	DEL	G	G	-													tgtggctacctggccaacatGggggggctcgcggccggagc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:3172105_3172105TG>T	uc001igp.3	+	16	1854	c.1778_1778TG>T	c.(1777-1779)atgfs	p.M593fs	PFKP_uc001igq.3_Frame_Shift_Del_p.M585fs|PFKP_uc009xhr.3_Frame_Shift_Del_p.M555fs|PFKP_uc009xhs.1_Frame_Shift_Del_p.M377fs|PFKP_uc009xht.3_Frame_Shift_Del_p.M331fs|PFKP_uc009xhu.3_Frame_Shift_Del_p.M99fs	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	593					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTGGCCAACATGGGGGGGCTC	0.637													-	3172106	G	-	3172106	7	5	63	1	0	1	0	1	0	0	0	0	11766	1348	47	0	1845	0	PFKP	10	3172106	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	3078308	3172106	132362641	916	45649											
TUBAL3	79861	broad.mit.edu	37	chr10	5437355	5437355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagagtaacggcctcgcgCgtaattgttagcagcatcct	10	12	0	1	rs150997870		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:5437355C>T	uc001ihy.2	-	3	371	c.331G>A	c.(331-333)GCG>ACG	p.A111T	TUBAL3_uc001ihz.2_Missense_Mutation_p.A71T	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	111					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1						CGGCCTCGCGCGTAATTGTTA	0.622													T	5437355	C	T	5437355	3	4	63	1	0	0	0	0	1	0	0	0	16748	768	27	1	1017	1	TUBAL3	10	5437355	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2265249	5437355	130097392	917	45650											
PFKFB3	5209	broad.mit.edu	37	chr10	6262768	6262768	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgccggcacggcgagaaCgagcacaacctccagggccg	14	15	0	1	rs145448801		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:6262768C>T	uc001ije.2	+	8	1155	c.771C>T	c.(769-771)AAC>AAT	p.N257N	PFKFB3_uc001ijd.2_Silent_p.N237N|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Silent_p.N271N|PFKFB3_uc001ijf.2_Silent_p.N257N	NM_004566	NP_004557	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,	257	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(2)|central_nervous_system(1)	3						ACGGCGAGAACGAGCACAACC	0.652													T	6262768	C	T	6262768	2	4	63	1	0	0	0	0	0	0	0	1	11762	535	19	1		1	PFKFB3	10	6262768	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	825413	6262768	129271979	918	45651											
PFKFB3	5209	broad.mit.edu	37	chr10	6266162	6266162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtccgtctgcacacacCgggagaggtcagaggtgagt	16	9	2	3	rs144329353		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:6266162C>T	uc001ije.2	+	13	1711	c.1327C>T	c.(1327-1329)CGG>TGG	p.R443W	PFKFB3_uc001ijd.2_Missense_Mutation_p.R423W|PFKFB3_uc009xii.2_Intron|PFKFB3_uc010qaw.1_Missense_Mutation_p.R457W|PFKFB3_uc001ijf.2_Missense_Mutation_p.R443W|PFKFB3_uc001ijg.2_RNA|PFKFB3_uc009xij.2_RNA|PFKFB3_uc009xik.2_RNA|PFKFB3_uc009xil.2_RNA	NM_004566	NP_004557	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,	443	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(2)|central_nervous_system(1)	3						CTGCACACACCGGGAGAGGTC	0.637													T	6266162	C	T	6266162	3	4	63	1	0	0	0	0	1	0	0	0	11762	643	23	1	1397	1	PFKFB3	10	6266162	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3394	6266162	129268585	919	45652											
KIN	22944	broad.mit.edu	37	chr10	7817765	7817765	+	Splice_Site	DEL	A	A	-													cgtaaaagtagggacctcctAaaaaaaagaaagttttaagg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:7817764_7817764TA>T	uc001ijt.3	-	6	653	c.559_splice	c.e6-1	p.E187_splice	KIN_uc010qaz.2_Splice_Site|KIN_uc010qba.2_Splice_Site_p.E81_splice	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	187					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGACCTCCTAAAAAAAAGA	0.318													-	7817765	A	-	7817765	8	5	63	1	0	1	0	1	0	0	1	0	8315	377	13	0		0	KIN	10	7817765	Splice_Site	DEL	A	TCGA-BR-8078-01A-11D-2340-08	1551603	7817765	127716982	920	45653											
NSUN6	221078	broad.mit.edu	37	chr10	18905144	18905144	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gacacaattcctggggcataGacatgggctcctcttaaaac	9	11	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:18905144G>T	uc010qcp.1	-	4	808	c.390C>A	c.(388-390)GTC>GTA	p.V130V		NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	NOL1/NOP2/Sun domain family, member 6	130	PUA.						methyltransferase activity|RNA binding			ovary(2)	2						CTGGGGCATAGACATGGGCTC	0.348													T	18905144	G	T	18905144	2	4	63	1	0	0	0	0	0	0	0	1	10682	929	33	5		5	NSUN6	10	18905144	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	11087379	18905144	116629603	921	45654											
ARMC3	219681	broad.mit.edu	37	chr10	23257331	23257331	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcagacagggggtcttAaaaagctcctgtcatttgca	10	9	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:23257331A>T	uc001irm.3	+	8	912	c.829A>T	c.(829-831)AAA>TAA	p.K277*	ARMC3_uc010qcv.1_Nonsense_Mutation_p.K277*|ARMC3_uc010qcw.1_Nonsense_Mutation_p.K14*	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	277	ARM 7.						binding				0						AGGGGGTCTTAAAAAGCTCCT	0.393													T	23257331	A	T	23257331	4	4	63	1	0	0	0	0	0	1	0	0	952	363	13	5	855	5	ARMC3	10	23257331	Nonsense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	4352187	23257331	112277416	922	45655											
YME1L1	10730	broad.mit.edu	37	chr10	27434472	27434472	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaccagctgatcaatctgTccaatttttagttcagataa	5	9	4	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:27434472T>C	uc001iti.2	-	4	569	c.387A>G	c.(385-387)GGA>GGG	p.G129G	YME1L1_uc001itj.2_Silent_p.G72G|YME1L1_uc010qdl.1_Silent_p.G72G|YME1L1_uc009xkv.2_RNA|YME1L1_uc001itk.1_3'UTR	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	129					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						GATCAATCTGTCCAATTTTTA	0.363													C	27434472	T	C	27434472	2	2	63	1	0	0	0	0	0	0	0	1	17484	1654	58	3		3	YME1L1	10	27434472	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	4177141	27434472	108100275	923	45656											
MPP7	143098	broad.mit.edu	37	chr10	28343108	28343108	+	Frame_Shift_Del	DEL	A	A	-													tcatttattataattttgtcAaaaagatgaccatattgact							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:28343108delA	uc001iua.1	-	19	2021	c.1617delT	c.(1615-1617)TTTfs	p.F539fs	MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Frame_Shift_Del_p.F539fs|MPP7_uc009xla.2_Frame_Shift_Del_p.F539fs	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	palmitoylated membrane protein 7	539	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			ovary(1)	1						TAATTTTGTCAAAAAGATGAC	0.323													-	28343108	A	-	28343108	7	5	63	1	0	1	0	1	0	0	0	0	9739	127	5	0	117	0	MPP7	10	28343108	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	908636	28343108	107191639	924	45657											
SVIL	6840	broad.mit.edu	37	chr10	29770534	29770534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgctgggcaagttccccGgggttcttctcattcgatct	11	11	3	0	rs137968783	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:29770534G>A	uc001iut.1	-	28	5832	c.5079C>T	c.(5077-5079)CCC>CCT	p.P1693P	LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Silent_p.P607P|SVIL_uc001iuu.1_Silent_p.P1267P|SVIL_uc009xlc.2_Silent_p.P485P	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1693					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				CAAGTTCCCCGGGGTTCTTCT	0.458													A	29770534	G	A	29770534	2	1	63	1	0	0	0	0	0	0	0	1	15418	1103	39	1		1	SVIL	10	29770534	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1427426	29770534	105764213	925	45658											
ARHGAP12	94134	broad.mit.edu	37	chr10	32150345	32150345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgatcccctggattttggAaatctcctttgctgatgctt	8	10	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:32150345A>G	uc001ivz.1	-	4	1196	c.926T>C	c.(925-927)TTC>TCC	p.F309S	ARHGAP12_uc001ivy.1_Missense_Mutation_p.F307S|ARHGAP12_uc009xls.2_Missense_Mutation_p.F307S|ARHGAP12_uc001iwb.1_Missense_Mutation_p.F307S|ARHGAP12_uc001iwc.1_Missense_Mutation_p.F307S|ARHGAP12_uc009xlq.1_Missense_Mutation_p.F307S|ARHGAP12_uc001iwd.1_Missense_Mutation_p.F307S|ARHGAP12_uc009xlr.1_Missense_Mutation_p.F307S	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	309					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		Prostate(175;0.0199)				TGGATTTTGGAAATCTCCTTT	0.413													G	32150345	A	G	32150345	3	3	63	1	0	0	0	0	1	0	0	0	865	246	9	3	1682	3	ARHGAP12	10	32150345	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	2379811	32150345	103384402	926	45659											
KIF5B	3799	broad.mit.edu	37	chr10	32311825	32311826	+	Frame_Shift_Ins	INS	-	-	T													ctccttttcattttcttccaINStttttttgttgctctcagtt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:32311825_32311826insT	uc001iwe.3	-	16	2334_2335	c.1864_1865insA	c.(1864-1866)ATGfs	p.M622fs		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	622					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)				ATTTTCTTCCATTTTTTTGTTG	0.347													T	32311826	-	T	32311825	7	5	63	1	0	1	1	0	0	0	0	0	8306	217	8	0	1066	0	KIF5B	10	32311825	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	161480	32311825	103222922	927	45660	169	2									
KIF5B	3799	broad.mit.edu	37	chr10	32311826	32311827	+	Frame_Shift_Ins	INS	-	-	T													tccttttcattttcttccatINSttttttgttgctctcagttt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:32311825_32311826A>AT	uc001iwe.4	-	15	2334_2335	c.1864_1865T>AT	c.(1864-1866)atgfs	p.M622fs		NM_004521	NP_004512	P33176	KINH_HUMAN	Homo sapiens kinesin family member 5B (KIF5B), mRNA.	622					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				ATTTTCTTCCATTTTTTTGTTG	0.347			T	"RET, ALK"	NSCLC								T	32311827	-	T	32311826	7	5	63	1	0	1	1	0	0	0	0	0	8306	1493	52	0	1067	0	KIF5B	10	32311826	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1	32311826	103222921	928	45661	169	2									
GJD4	219770	broad.mit.edu	37	chr10	35897009	35897009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggactgctacgtgtcgCggcccacagagaagtccctg	14	12	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:35897009C>T	uc001iyy.1	+	2	726	c.568C>T	c.(568-570)CGG>TGG	p.R190W		NM_153368	NP_699199	Q96KN9	CXD4_HUMAN	connexin40.1	190	Extracellular (Potential).				cell communication	connexon complex|integral to membrane				large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						CTACGTGTCGCGGCCCACAGA	0.652													T	35897009	C	T	35897009	3	4	63	1	0	0	0	0	1	0	0	0	6419	759	27	1	574	1	GJD4	10	35897009	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3585183	35897009	99637738	929	45662											
ALOX5	240	broad.mit.edu	37	chr10	45941064	45941064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcagcgtgattgctgagCgcaacaagaagaagcagctg	13	8	1	4	rs151270582		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:45941064C>T	uc001jce.2	+	14	2053	c.1954C>T	c.(1954-1956)CGC>TGC	p.R652C	ALOX5_uc009xmt.2_Missense_Mutation_p.R620C|ALOX5_uc010qfg.1_Missense_Mutation_p.R595C	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	652	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			ovary(1)|pancreas(1)	2		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GATTGCTGAGCGCAACAAGAA	0.542													T	45941064	C	T	45941064	3	4	63	1	0	0	0	0	1	0	0	0	540	768	27	1	2008	1	ALOX5	10	45941064	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	10044055	45941064	89593683	930	45663											
GPRIN2	9721	broad.mit.edu	37	chr10	46999285	46999285	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagatgcggggacacagtggTgctcggaaggccagtctcag	16	10	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:46999285T>G	uc001jec.2	+	3	540	c.405T>G	c.(403-405)GGT>GGG	p.G135G	GPRIN2_uc010qfq.1_5'Flank	NM_014696	NP_055511	O60269	GRIN2_HUMAN	G protein-regulated inducer of neurite outgrowth	135											0						GACACAGTGGTGCTCGGAAGG	0.662													G	46999285	T	G	46999285	2	3	63	1	0	0	0	0	0	0	0	1	6730	1683	59	5		5	GPRIN2	10	46999285	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1058221	46999285	88535462	931	45664											
LRRC18	474354	broad.mit.edu	37	chr10	50122058	50122058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcgtccatgtcactaaggCgcagaatacacttggggaag	12	10	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:50122058C>T	uc001jhd.2	-	1	223	c.143G>A	c.(142-144)CGC>CAC	p.R48H	WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.R48H	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	48	LRR 1.					cytoplasm				ovary(1)|pancreas(1)	2						GTCACTAAGGCGCAGAATACA	0.507													T	50122058	C	T	50122058	3	4	63	1	0	0	0	0	1	0	0	0	8974	768	27	1	650	1	LRRC18	10	50122058	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3122773	50122058	85412689	932	45665											
SLC18A3	6572	broad.mit.edu	37	chr10	50820285	50820285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacgatgcggtgcgcctgcGtgagcgtcctgtgtctggcc	16	12	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:50820285G>A	uc001jhw.2	+	1	1939	c.1499G>A	c.(1498-1500)CGT>CAT	p.R500H	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	500	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						GTGCGCCTGCGTGAGCGTCCT	0.652													A	50820285	G	A	50820285	3	1	63	1	0	0	0	0	1	0	0	0	14427	1145	40	1	1501	1	SLC18A3	10	50820285	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	698227	50820285	84714462	933	45666											
CHAT	1103	broad.mit.edu	37	chr10	50835782	50835782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccaattggcctgctgacGtctgacgggaggagcgagtg	15	11	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:50835782G>A	uc001jhz.2	+	7	1215	c.1062G>A	c.(1060-1062)ACG>ACA	p.T354T	CHAT_uc001jhv.1_Silent_p.T236T|CHAT_uc001jhx.1_Silent_p.T236T|CHAT_uc001jhy.1_Silent_p.T236T|CHAT_uc001jia.2_Silent_p.T236T|CHAT_uc010qgs.1_Silent_p.T236T	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	354					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GCCTGCTGACGTCTGACGGGA	0.592													A	50835782	G	A	50835782	2	1	63	1	0	0	0	0	0	0	0	1	3313	1132	40	1		1	CHAT	10	50835782	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	15497	50835782	84698965	934	45667											
CSTF2T	23283	broad.mit.edu	37	chr10	53458192	53458192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcatgtgaggaagggccaCgagtgtcatgaccagaggca	14	9	2	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:53458192C>T	uc001jjp.2	-	1	1164	c.1118G>A	c.(1117-1119)CGT>CAT	p.R373H	PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit	373	Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			ovary(1)	1				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GGAAGGGCCACGAGTGTCATG	0.562													T	53458192	C	T	53458192	3	4	63	1	0	0	0	0	1	0	0	0	3985	536	19	1	736	1	CSTF2T	10	53458192	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2622410	53458192	82076555	935	45668											
TMEM26	219623	broad.mit.edu	37	chr10	63191022	63191022	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggtttgttcattggatgtCaatgtttgattgaagtcttc	10	5	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:63191022C>T	uc001jlo.2	-	3	708	c.339G>A	c.(337-339)TTG>TTA	p.L113L	TMEM26_uc010qij.1_RNA|TMEM26_uc001jlq.2_RNA	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	113						integral to membrane					0	Prostate(12;0.0112)					CATTGGATGTCAATGTTTGAT	0.408													T	63191022	C	T	63191022	2	4	63	1	0	0	0	0	0	0	0	1	16148	825	29	4		4	TMEM26	10	63191022	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	9732830	63191022	72343725	936	45669											
JMJD1C	221037	broad.mit.edu	37	chr10	64966870	64966870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtactacagattacagtgCtatccagaggaagggaggct	12	7	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:64966870C>T	uc001jmn.2	-	10	4859	c.4559G>A	c.(4558-4560)AGC>AAC	p.S1520N	JMJD1C_uc001jml.2_Missense_Mutation_p.S1301N|JMJD1C_uc001jmm.2_Missense_Mutation_p.S1232N|JMJD1C_uc010qiq.1_Missense_Mutation_p.S1338N|JMJD1C_uc009xpi.2_Missense_Mutation_p.S1338N|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.S557N	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1520					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GATTACAGTGCTATCCAGAGG	0.418													T	64966870	C	T	64966870	3	4	63	1	0	0	0	0	1	0	0	0	7950	797	28	2	3131	2	JMJD1C	10	64966870	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1775848	64966870	70567877	937	45670											
CTNNA3	29119	broad.mit.edu	37	chr10	68138968	68138968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgtgtaagcccctggctcGtaactgtccatttcacccgt	8	15	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:68138968G>A	uc009xpn.1	-	12	1797	c.1674C>T	c.(1672-1674)TAC>TAT	p.Y558Y	CTNNA3_uc001jmw.2_Silent_p.Y558Y	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	558					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						CCCCTGGCTCGTAACTGTCCA	0.468													A	68138968	G	A	68138968	2	1	63	1	0	0	0	0	0	0	0	1	4014	1140	40	1		1	CTNNA3	10	68138968	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3172098	68138968	67395779	938	45671											
DDX21	9188	broad.mit.edu	37	chr10	70730038	70730038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatagtggtcatcaaggaCgcactatcatcttttgtgaa	8	7	4	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:70730038C>T	uc001jov.1	+	8	1408	c.1318C>T	c.(1318-1320)CGC>TGC	p.R440C	DDX21_uc001jow.1_Missense_Mutation_p.R372C	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 21	440	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)	3						TCATCAAGGACGCACTATCAT	0.453													T	70730038	C	T	70730038	3	4	63	1	0	0	0	0	1	0	0	0	4349	536	19	1	1348	1	DDX21	10	70730038	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2591070	70730038	64804709	939	45672											
TSPAN15	23555	broad.mit.edu	37	chr10	71243576	71243576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcgtcgtcatgttcatgGtctccttcattggtgtgctg	13	9	4	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:71243576G>A	uc001jpo.1	+	2	351	c.226G>A	c.(226-228)GTC>ATC	p.V76I		NM_012339	NP_036471	O95858	TSN15_HUMAN	transmembrane 4 superfamily member 15	76	Helical; (Potential).					integral to plasma membrane|membrane fraction					0						CATGTTCATGGTCTCCTTCAT	0.562													A	71243576	G	A	71243576	3	1	63	1	0	0	0	0	1	0	0	0	16636	1261	44	4	232	4	TSPAN15	10	71243576	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	513538	71243576	64291171	940	45673											
C10orf35	219738	broad.mit.edu	37	chr10	71392706	71392706	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatcttggcaaccatgctgTggagccggtgacctccatcc	11	14	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:71392706T>C	uc001jpq.3	+	4	427	c.257T>C	c.(256-258)GTG>GCG	p.V86A		NM_145306	NP_660349	Q96D05	CJ035_HUMAN	hypothetical protein LOC219738	86						integral to membrane				ovary(1)|skin(1)	2						AACCATGCTGTGGAGCCGGTG	0.602													C	71392706	T	C	71392706	3	2	63	1	0	0	0	0	1	0	0	0	1603	1696	59	3	263	3	C10orf35	10	71392706	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	149130	71392706	64142041	941	45674											
UNC5B	219699	broad.mit.edu	37	chr10	73053236	73053236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggcctcctgctgtgccGccccgtcatcctcaccatgc	8	20	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:73053236G>A	uc001jro.2	+	12	2292	c.1847G>A	c.(1846-1848)CGC>CAC	p.R616H	UNC5B_uc001jrp.2_Missense_Mutation_p.R605H	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	616	Cytoplasmic (Potential).|ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						CTGCTGTGCCGCCCCGTCATC	0.637													A	73053236	G	A	73053236	3	1	63	1	0	0	0	0	1	0	0	0	16989	1087	38	1	1893	1	UNC5B	10	73053236	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1660530	73053236	62481511	942	45675											
SLC29A3	55315	broad.mit.edu	37	chr10	73115851	73115851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcaggaggagccatgggCgggacggtcagcgccgtggc	19	11	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:73115851C>T	uc001jrr.3	+	5	681	c.624C>T	c.(622-624)GGC>GGT	p.G208G	SLC29A3_uc001jrs.3_Silent_p.G208G|SLC29A3_uc010qjq.1_Silent_p.G62G|SLC29A3_uc001jrt.3_Silent_p.G2G|SLC29A3_uc001jru.3_Silent_p.G20G	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (nucleoside	208	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity				0						GAGCCATGGGCGGGACGGTCA	0.637													T	73115851	C	T	73115851	2	4	63	1	0	0	0	0	0	0	0	1	14536	755	27	1		1	SLC29A3	10	73115851	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	62615	73115851	62418896	943	45676											
CDH23	64072	broad.mit.edu	37	chr10	73558151	73558151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacgtcaatgacaatacGccccagttcaagccctttgg	9	13	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:73558151G>A	uc001jrx.3	+	48	7247	c.6870G>A	c.(6868-6870)ACG>ACA	p.T2290T	CDH23_uc001jsg.3_Silent_p.T50T|CDH23_uc001jsh.3_Silent_p.T50T|CDH23_uc001jsi.3_Silent_p.T50T	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	2290	Cadherin 21.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						ATGACAATACGCCCCAGTTCA	0.617													A	73558151	G	A	73558151	2	1	63	1	0	0	0	0	0	0	0	1	3108	1074	38	1		1	CDH23	10	73558151	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	442300	73558151	61976596	944	45677											
USP54	159195	broad.mit.edu	37	chr10	75277357	75277357	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgggggagctgtgctgtgGggcagatgactctggagata	18	6	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:75277357G>T	uc001juo.2	-	18	2844	c.2827C>A	c.(2827-2829)CCA>ACA	p.P943T	USP54_uc010qkk.1_Missense_Mutation_p.P125T|USP54_uc001juk.2_Missense_Mutation_p.P31T|USP54_uc001jul.2_Missense_Mutation_p.P31T|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	943					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					CTGTGCTGTGGGGCAGATGAC	0.502													T	75277357	G	T	75277357	3	4	63	1	0	0	0	0	1	0	0	0	17082	1232	43	5	2247	5	USP54	10	75277357	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1719206	75277357	60257390	945	45678											
USP54	159195	broad.mit.edu	37	chr10	75290072	75290072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actctctatttcccagtcacGagagtgtaaaggcagggtcc	10	11	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:75290072G>A	uc001juo.2	-	12	1674	c.1657C>T	c.(1657-1659)CGT>TGT	p.R553C	USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Missense_Mutation_p.R553C|USP54_uc010qkl.1_Missense_Mutation_p.R553C	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	553					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.G553D(1)		breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					TCCCAGTCACGAGAGTGTAAA	0.502													A	75290072	G	A	75290072	3	1	63	1	0	0	0	0	1	0	0	0	17082	1058	37	1	3441	1	USP54	10	75290072	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	12715	75290072	60244675	946	45679											
KIAA0913	23053	broad.mit.edu	37	chr10	75557339	75557339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgccagtggaggagcccGggcgaagactgttgaagttg	17	8	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:75557339G>A	uc009xrl.2	+	18	3655	c.3623G>A	c.(3622-3624)CGG>CAG	p.R1208Q	KIAA0913_uc001jve.2_Missense_Mutation_p.R1213Q|KIAA0913_uc001jvf.2_Missense_Mutation_p.R1208Q|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.R643Q|KIAA0913_uc010qkr.1_Missense_Mutation_p.R631Q|KIAA0913_uc001jvj.2_Missense_Mutation_p.R631Q|KIAA0913_uc009xrn.1_5'Flank	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	1208							zinc ion binding			breast(1)	1	Prostate(51;0.0112)					GGAGGAGCCCGGGCGAAGACT	0.597													A	75557339	G	A	75557339	3	1	63	1	0	0	0	0	1	0	0	0	8200	1116	39	1	3708	1	KIAA0913	10	75557339	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	267267	75557339	59977408	947	45680											
MYST4	23522	broad.mit.edu	37	chr10	76788343	76788343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccaaaaggaacaaagcGcggtctatctaagtggaggc	14	8	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:76788343G>A	uc001jwn.1	+	18	4254	c.3761G>A	c.(3760-3762)CGC>CAC	p.R1254H	MYST4_uc001jwo.1_Missense_Mutation_p.R962H|MYST4_uc001jwp.1_Missense_Mutation_p.R1071H	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1254					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					GGAACAAAGCGCGGTCTATCT	0.438			T	CREBBP	AML								A	76788343	G	A	76788343	3	1	63	1	0	0	0	0	1	0	0	0	10105	1087	38	1	3823	1	MYST4	10	76788343	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1231004	76788343	58746404	948	45681											
MYST4	23522	broad.mit.edu	37	chr10	76789861	76789861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtggtggagaggcctcCgagcagcagccagcagctgg	17	11	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:76789861C>T	uc001jwn.1	+	18	5772	c.5279C>T	c.(5278-5280)CCG>CTG	p.P1760L	MYST4_uc001jwo.1_Missense_Mutation_p.P1468L|MYST4_uc001jwp.1_Missense_Mutation_p.P1577L	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1760	Ser-rich.|Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					GAGAGGCCTCCGAGCAGCAGC	0.612			T	CREBBP	AML								T	76789861	C	T	76789861	3	4	63	1	0	0	0	0	1	0	0	0	10105	652	23	1	5341	1	MYST4	10	76789861	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1518	76789861	58744886	949	45682											
KCNMA1	3778	broad.mit.edu	37	chr10	78844406	78844406	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagagttacctcatgatattCgaggcatcctccgcatccgg	9	12	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:78844406C>T	uc001jxn.2	-	12	1689	c.1512G>A	c.(1510-1512)TCG>TCA	p.S504S	KCNMA1_uc001jxj.2_Silent_p.S504S|KCNMA1_uc001jxk.1_Silent_p.S119S|KCNMA1_uc009xrt.1_Silent_p.S324S|KCNMA1_uc001jxl.1_Silent_p.S158S|KCNMA1_uc001jxo.2_Silent_p.S504S|KCNMA1_uc001jxm.2_Silent_p.S504S|KCNMA1_uc001jxq.2_Silent_p.S504S	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	504	RCK N-terminal.|Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCATGATATTCGAGGCATCCT	0.532													T	78844406	C	T	78844406	2	4	63	1	0	0	0	0	0	0	0	1	8073	871	31	1		1	KCNMA1	10	78844406	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2054545	78844406	56690341	950	45683											
POLR3A	11128	broad.mit.edu	37	chr10	79741973	79741973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtgtggccatgactgccCgcaggttatcaccttccacc	10	15	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:79741973C>T	uc001jzn.2	-	28	3792	c.3698G>A	c.(3697-3699)CGG>CAG	p.R1233Q		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	1233					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CATGACTGCCCGCAGGTTATC	0.567													T	79741973	C	T	79741973	3	4	63	1	0	0	0	0	1	0	0	0	12228	652	23	1	490	1	POLR3A	10	79741973	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	897567	79741973	55792774	951	45684											
FAM190B	54462	broad.mit.edu	37	chr10	86131826	86131826	+	Frame_Shift_Del	DEL	A	A	-													ctatgacagttgatggaaatAaaaattcacctgctgacaca					rs145873640		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:86131825_86131825TA>T	uc010qmd.1	+	1	1211	c.1017_1017TA>T	c.(1015-1017)aatfs	p.N339fs	FAM190B_uc001kdg.1_Frame_Shift_Del_p.N339fs|FAM190B_uc001kdh.1_Frame_Shift_Del_p.N339fs			Q9H7U1	F190B_HUMAN	Homo sapiens family with sequence similarity 190, member B (FAM190B), mRNA.	339								p.N339K(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(11)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						TTGATGGAAATAAAAATTCAC	0.403													-	86131826	A	-	86131826	7	5	63	1	0	1	0	1	0	0	0	0	5522	363	13	0	1020	0	FAM190B	10	86131826	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	6389853	86131826	49402921	952	45685											
FAM190B	54462	broad.mit.edu	37	chr10	86273259	86273259	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacccacagatcacacccagGgaaaactaataaagccacaa	6	13	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:86273259G>T	uc001kdh.1	+	11	2659	c.2465G>T	c.(2464-2466)GGG>GTG	p.G822V	FAM190B_uc010qmd.1_Nonsense_Mutation_p.G794*|FAM190B_uc001kdi.1_5'UTR|FAM190B_uc010qme.1_Missense_Mutation_p.G249V	NM_018999	NP_061872	Q9H7U1	F190B_HUMAN	granule cell antiserum positive 14	822										ovary(3)|skin(1)	4						TCACACCCAGGGAAAACTAAT	0.468													T	86273259	G	T	86273259	3	4	63	1	0	0	0	0	1	0	0	0	5522	1232	43	5	2503	5	FAM190B	10	86273259	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	141433	86273259	49261488	953	45686											
GRID1	2894	broad.mit.edu	37	chr10	87898668	87898668	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attcagctcctctgtcttcaTcgtggtgaagaggctggtga	12	9	4	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:87898668T>A	uc001kdl.1	-	4	735	c.634A>T	c.(634-636)ATG>TTG	p.M212L	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	212	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	TCTGTCTTCATCGTGGTGAAG	0.567										Multiple Myeloma(13;0.14)			A	87898668	T	A	87898668	3	1	63	1	0	0	0	0	1	0	0	0	6771	1435	50	5	2447	5	GRID1	10	87898668	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1625409	87898668	47636079	954	45687											
FAM22A	728118	broad.mit.edu	37	chr10	88994221	88994221	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggggaccccagggaactcAtcagttcccatctgctgaga	12	12	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:88994221A>G	uc001kek.2	+	7	2776	c.2393A>G	c.(2392-2394)CAT>CGT	p.H798R	LOC728190_uc009xtc.2_Intron|LOC728190_uc009xtd.2_Intron	NM_001099338	NP_001092808	Q8IVF1	FA22A_HUMAN	hypothetical protein LOC728118	798											0						CAGGGAACTCATCAGTTCCCA	0.592													G	88994221	A	G	88994221	3	3	63	1	0	0	0	0	1	0	0	0	5543	217	8	3	2419	3	FAM22A	10	88994221	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	1095553	88994221	46540526	955	45688											
IFIT3	3437	broad.mit.edu	37	chr10	91098638	91098638	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccctggaatgcttacggCaagctgaagagttaatccag	11	10	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:91098638C>T	uc001kgf.2	+	2	455	c.226C>T	c.(226-228)CAA>TAA	p.Q76*	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Nonsense_Mutation_p.Q76*	NM_001549	NP_001540	O14879	IFIT3_HUMAN	interferon-induced protein with	76	TPR 1.				type I interferon-mediated signaling pathway		protein binding			central_nervous_system(1)	1						ATGCTTACGGCAAGCTGAAGA	0.443													T	91098638	C	T	91098638	4	4	63	1	0	0	0	0	0	1	0	0	7524	711	25	2	241	2	IFIT3	10	91098638	Nonsense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2104417	91098638	44436109	956	45689											
KIF20B	9585	broad.mit.edu	37	chr10	91497987	91497987	+	Frame_Shift_Del	DEL	A	A	-													gctgaaagaagaattgcaagAaaaaaatgttactcttgatg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:91497987delA	uc001kgs.1	+	20	3461	c.3389delA	c.(3388-3390)GAAfs	p.E1130fs	KIF20B_uc001kgr.1_Frame_Shift_Del_p.E1090fs|KIF20B_uc001kgt.1_Frame_Shift_Del_p.E341fs|KIF20B_uc009xtw.1_RNA	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	1130					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3						GAATTGCAAGAAAAAAATGTT	0.338													-	91497987	A	-	91497987	7	5	63	1	0	1	0	1	0	0	0	0	8287	246	9	0	3343	0	KIF20B	10	91497987	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	399349	91497987	44036760	957	45690											
BTAF1	9044	broad.mit.edu	37	chr10	93756247	93756247	+	Frame_Shift_Del	DEL	T	T	-													taccatggaaacaatgaataTttttttggagaaggttcttc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:93756246_93756246AT>A	uc001khr.3	+	23	3528	c.3430_3430AT>A	c.(3430-3432)attfs	p.I1144fs	BTAF1_uc001kht.1_Frame_Shift_Del_p.I582fs	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1144					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AACAATGAATATTTTTTTGGA	0.433													-	93756247	T	-	93756247	7	5	63	1	0	1	0	1	0	0	0	0	1536	1493	52	0	3525	0	BTAF1	10	93756247	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	2258260	93756247	41778500	958	45691											
EXOC6	54536	broad.mit.edu	37	chr10	94818016	94818016	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagaacaatatatttgcTcagttcaggaagaatgatcg	8	5	2	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:94818016T>C	uc001kig.2	+	22	2385	c.2319T>C	c.(2317-2319)GCT>GCC	p.A773A	EXOC6_uc010qnr.1_Silent_p.A789A|EXOC6_uc001kie.2_Silent_p.A768A|EXOC6_uc009xub.2_Silent_p.A772A|EXOC6_uc009xuc.2_Silent_p.A670A|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_Silent_p.A347A	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN	SEC15-like 1 isoform a	773					protein transport|vesicle docking involved in exocytosis	exocyst				skin(1)	1		Colorectal(252;0.123)				ATATATTTGCTCAGTTCAGGA	0.373													C	94818016	T	C	94818016	2	2	63	1	0	0	0	0	0	0	0	1	5308	1538	54	3		3	EXOC6	10	94818016	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1061769	94818016	40716731	959	45692											
CRTAC1	55118	broad.mit.edu	37	chr10	99696002	99696002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcgcaggctgtgacccCgatggcgttcccctgccggt	14	14	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:99696002C>T	uc001kou.1	-	3	702	c.346G>A	c.(346-348)GGG>AGG	p.G116R	CRTAC1_uc001kov.2_Missense_Mutation_p.G105R|CRTAC1_uc001kot.1_5'UTR	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	116	FG-GAP 2; atypical.					proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GCTGTGACCCCGATGGCGTTC	0.632													T	99696002	C	T	99696002	3	4	63	1	0	0	0	0	1	0	0	0	3896	652	23	1	1691	1	CRTAC1	10	99696002	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4877986	99696002	35838745	960	45693											
LOXL4	84171	broad.mit.edu	37	chr10	100013355	100013355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcgcgtccagtctttggaCgaaagtcagtccggcccaga	11	12	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:100013355C>T	uc001kpa.1	-	11	1941	c.1790G>A	c.(1789-1791)CGT>CAT	p.R597H		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4 precursor	597	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			ovary(3)|breast(1)|skin(1)	5		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		AGTCTTTGGACGAAAGTCAGT	0.562													T	100013355	C	T	100013355	3	4	63	1	0	0	0	0	1	0	0	0	8902	536	19	1	500	1	LOXL4	10	100013355	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	317353	100013355	35521392	961	45694											
SEC31B	25956	broad.mit.edu	37	chr10	102256140	102256140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaccccatgaggaccccGcagttgctccaagctcctgt	9	17	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:102256140G>A	uc001krc.1	-	18	2287	c.2185C>T	c.(2185-2187)CGG>TGG	p.R729W	SEC31B_uc010qpo.1_Missense_Mutation_p.R728W|SEC31B_uc001krd.1_Missense_Mutation_p.R266W|SEC31B_uc001krf.1_Missense_Mutation_p.R266W|SEC31B_uc001kre.1_Missense_Mutation_p.R266W|SEC31B_uc001krg.1_Missense_Mutation_p.R298W	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	729					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TGAGGACCCCGCAGTTGCTCC	0.587													A	102256140	G	A	102256140	3	1	63	1	0	0	0	0	1	0	0	0	13999	1086	38	1	1390	1	SEC31B	10	102256140	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2242785	102256140	33278607	962	45695											
LZTS2	84445	broad.mit.edu	37	chr10	102762593	102762593	+	Frame_Shift_Del	DEL	C	C	-													aggacttccggacagagtcaCcccccagcccaagcagtgat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:102762592_102762592AC>A	uc001ksj.3	+	1	467	c.297_297AC>A	c.(295-297)tcafs	p.S99fs	LZTS2_uc010qpw.2_Frame_Shift_Del_p.S99fs|LZTS2_uc001ksk.3_Frame_Shift_Del_p.S99fs|LZTS2_uc001ksl.3_Frame_Shift_Del_p.S99fs|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	99	Required for centrosomal localization (By similarity).				Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGACAGAGTCACCCCCCAGCC	0.617													-	102762593	C	-	102762593	7	5	63	1	0	1	0	1	0	0	0	0	9139	507	18	0	300	0	LZTS2	10	102762593	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	506453	102762593	32772154	963	45696											
PITX3	5309	broad.mit.edu	37	chr10	103990294	103990294	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacgggcctttccacggcgtActggcacggactaaggttgg	14	11	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:103990294A>G	uc001kuu.1	-	4	1040	c.886T>C	c.(886-888)TAC>CAC	p.Y296H		NM_005029	NP_005020	O75364	PITX3_HUMAN	paired-like homeodomain 3	296					dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCCACGGCGTACTGGCACGGA	0.672													G	103990294	A	G	103990294	3	3	63	1	0	0	0	0	1	0	0	0	11956	391	14	3	26	3	PITX3	10	103990294	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	1227701	103990294	31544453	964	45697											
PSD	5662	broad.mit.edu	37	chr10	104174761	104174761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtggggcaggtgggtagGcagtgcctggtgggccctca	20	10	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:104174761G>A	uc001kvg.1	-	4	1510	c.983C>T	c.(982-984)GCC>GTC	p.A328V	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.A328V	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	328					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGGTGGGTAGGCAGTGCCTGG	0.662													A	104174761	G	A	104174761	3	1	63	1	0	0	0	0	1	0	0	0	12646	1203	42	2	2147	2	PSD	10	104174761	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	184467	104174761	31359986	965	45698											
CNNM2	54805	broad.mit.edu	37	chr10	104679763	104679763	+	Frame_Shift_Del	DEL	C	C	-													cgtggatcccgatgactgtaCccccctgaaaaccatcacca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:104679762_104679762AC>A	uc001kwm.3	+	0	1688	c.1525_1525AC>A	c.(1525-1527)accfs	p.T509fs	CNNM2_uc001kwn.3_Frame_Shift_Del_p.T509fs|CNNM2_uc001kwl.3_Frame_Shift_Del_p.T509fs	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	509	CBS 1.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CGATGACTGTACCCCCCTGAA	0.488													-	104679763	C	-	104679763	7	5	63	1	0	1	0	1	0	0	0	0	3613	507	18	0	1528	0	CNNM2	10	104679763	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	505002	104679763	30854984	966	45699											
CALHM2	51063	broad.mit.edu	37	chr10	105207210	105207210	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagctggtcctcattggcgCggtactgcgcccagtaggcc	13	14	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:105207210C>A	uc001kwz.2	-	3	1057	c.671G>T	c.(670-672)CGC>CTC	p.R224L	CALHM2_uc001kxa.2_Missense_Mutation_p.R224L|CALHM2_uc001kxc.2_3'UTR|CALHM2_uc001kxb.2_Missense_Mutation_p.R224L	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	224						integral to membrane				skin(1)	1						CTCATTGGCGCGGTACTGCGC	0.622													A	105207210	C	A	105207210	3	1	63	1	0	0	0	0	1	0	0	0	2583	768	27	5	304	5	CALHM2	10	105207210	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	527447	105207210	30327537	967	45700											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105361689	105361689	+	Frame_Shift_Del	DEL	C	C	-													ctccagaacctccatggacaCcccctcctggaagcctgctg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:105361688_105361688AC>A	uc010qqu.1	-	11	3099	c.3032_3032GT>T	c.(3031-3033)gtgfs	p.V1011fs	SH3PXD2A_uc010qqr.2_Intron|SH3PXD2A_uc010qqs.1_Frame_Shift_Del_p.V903fs|SH3PXD2A_uc010qqt.1_Frame_Shift_Del_p.V945fs|SH3PXD2A_uc009xxn.1_Frame_Shift_Del_p.V903fs|SH3PXD2A_uc001kxj.1_Frame_Shift_Del_p.V1068fs	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	1096					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CTCCATGGACACCCCCTCCTG	0.532													-	105361689	C	-	105361689	7	5	63	1	0	1	0	1	0	0	0	0	14256	507	18	0	119	0	SH3PXD2A	10	105361689	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	154479	105361689	30173058	968	45701											
CCDC147	159686	broad.mit.edu	37	chr10	106152048	106152048	+	Frame_Shift_Del	DEL	A	A	-													cacagatttttgactacaggAaaaaaatagctgaatcagag							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:106152047_106152047GA>G	uc001kyh.3	+	9	1556	c.1422_1422GA>G	c.(1420-1422)aggfs	p.R474fs		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	474										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TTGACTACAGGAAAAAAATAG	0.353													-	106152048	A	-	106152048	7	5	63	1	0	1	0	1	0	0	0	0	2781	247	9	0	1461	0	CCDC147	10	106152048	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	790359	106152048	29382699	969	45702											
ADRA2A	150	broad.mit.edu	37	chr10	112838476	112838476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccagatcgccaagcgtcGcacccgcgtgccacccagcc	9	20	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:112838476G>A	uc001kzo.2	+	1	1687	c.722G>A	c.(721-723)CGC>CAC	p.R241H		NM_000681	NP_000672	P08913	ADA2A_HUMAN	alpha-2A-adrenergic receptor	226	Cytoplasmic (By similarity).				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding				0		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	GCCAAGCGTCGCACCCGCGTG	0.706													A	112838476	G	A	112838476	3	1	63	1	0	0	0	0	1	0	0	0	337	1087	38	1	724	1	ADRA2A	10	112838476	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	6686428	112838476	22696271	970	45703											
TCF7L2	6934	broad.mit.edu	37	chr10	114905796	114905796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaccagtgtacccaatcaCgacaggaggattcagacacc	8	13	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:114905796C>T	uc001lae.3	+	8	1322	c.815C>T	c.(814-816)ACG>ATG	p.T272M	TCF7L2_uc001lac.3_Missense_Mutation_p.T249M|TCF7L2_uc010qrk.1_Missense_Mutation_p.T249M|TCF7L2_uc010qrl.1_Missense_Mutation_p.T249M|TCF7L2_uc010qrm.1_Missense_Mutation_p.T272M|TCF7L2_uc010qrn.1_Missense_Mutation_p.T215M|TCF7L2_uc001lad.3_Missense_Mutation_p.T245M|TCF7L2_uc001lag.3_Missense_Mutation_p.T296M|TCF7L2_uc001laf.3_Missense_Mutation_p.T249M|TCF7L2_uc010qro.1_Missense_Mutation_p.T249M|TCF7L2_uc001lah.2_Missense_Mutation_p.T249M|TCF7L2_uc010qrp.1_Missense_Mutation_p.T249M|TCF7L2_uc010qrq.1_Missense_Mutation_p.T245M|TCF7L2_uc010qrr.1_Missense_Mutation_p.T187M|TCF7L2_uc010qrs.1_Missense_Mutation_p.T143M|TCF7L2_uc010qrt.1_Missense_Mutation_p.T143M|TCF7L2_uc010qru.1_Missense_Mutation_p.T166M|TCF7L2_uc010qrv.1_Missense_Mutation_p.T89M|TCF7L2_uc010qrw.1_Translation_Start_Site|TCF7L2_uc010qrx.1_Missense_Mutation_p.T129M	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	272	Mediates interaction with MAD2L2.|Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TACCCAATCACGACAGGAGGA	0.517													T	114905796	C	T	114905796	3	4	63	1	0	0	0	0	1	0	0	0	15695	536	19	1	990	1	TCF7L2	10	114905796	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2067320	114905796	20628951	971	45704											
C10orf118	55088	broad.mit.edu	37	chr10	115891802	115891802	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattcagactgaagctgtgcAttcttactagtgagcctttc	9	9	2	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:115891802A>G	uc001lbb.1	-	11	2449	c.1797T>C	c.(1795-1797)AAT>AAC	p.N599N	C10orf118_uc009xyd.1_Silent_p.N197N|C10orf118_uc001lbc.1_Silent_p.N599N|C10orf118_uc009xye.1_RNA	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	CTCL tumor antigen L14-2	599	Potential.									ovary(2)	2		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		GAAGCTGTGCATTCTTACTAG	0.378													G	115891802	A	G	115891802	2	3	63	1	0	0	0	0	0	0	0	1	1587	214	8	3		3	C10orf118	10	115891802	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	986006	115891802	19642945	972	45705											
ATRNL1	26033	broad.mit.edu	37	chr10	116887435	116887435	+	Frame_Shift_Del	DEL	T	T	-													tctggctatgcactgttacaTttttttagtgatgctgcgta							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:116887435delT	uc001lcg.2	+	4	956	c.570delT	c.(568-570)CATfs	p.H190fs	ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Frame_Shift_Del_p.H190fs|ATRNL1_uc009xyq.2_Frame_Shift_Del_p.H190fs	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	190	CUB.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CACTGTTACATTTTTTTAGTG	0.313													-	116887435	T	-	116887435	7	5	63	1	0	1	0	1	0	0	0	0	1207	1490	52	0	584	0	ATRNL1	10	116887435	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	995633	116887435	18647312	973	45706											
PDZD8	118987	broad.mit.edu	37	chr10	119044515	119044515	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggttggttttgacacttGtgctgggtctgttatctcag	13	6	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:119044515G>A	uc001lde.1	-	5	1928	c.1729C>T	c.(1729-1731)CAA>TAA	p.Q577*		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	577	Pro-rich.				intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		TTTGACACTTGTGCTGGGTCT	0.473													A	119044515	G	A	119044515	4	1	63	1	0	0	0	0	0	1	0	0	11705	1386	48	4	1739	4	PDZD8	10	119044515	Nonsense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2157080	119044515	16490232	974	45707											
PRLHR	2834	broad.mit.edu	37	chr10	120354633	120354633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgacggctggagcgtccgCgccagccaccgacccgttgc	14	17	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:120354633C>T	uc001ldp.1	-	2	263	c.124G>A	c.(124-126)GCG>ACG	p.A42T		NM_004248	NP_004239	P49683	PRLHR_HUMAN	G protein-coupled receptor 10	42	Extracellular (Potential).				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity				0		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GGAGCGTCCGCGCCAGCCACC	0.672													T	120354633	C	T	120354633	3	4	63	1	0	0	0	0	1	0	0	0	12530	768	27	1	992	1	PRLHR	10	120354633	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1310118	120354633	15180114	975	45708											
WDR11	55717	broad.mit.edu	37	chr10	122660586	122660586	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaataaagaatctcctccAagaacagttgaattcattgt	6	7	2	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:122660586A>G	uc010qtf.1	+	21	2901	c.2663A>G	c.(2662-2664)CAA>CGA	p.Q888R	WDR11_uc010qte.1_Missense_Mutation_p.Q490R|WDR11_uc001lfd.1_Missense_Mutation_p.Q406R|WDR11_uc009xzn.2_Missense_Mutation_p.Q179R	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	888						integral to membrane					0						AATCTCCTCCAAGAACAGTTG	0.294													G	122660586	A	G	122660586	3	3	63	1	0	0	0	0	1	0	0	0	17270	130	5	3	2745	3	WDR11	10	122660586	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	2305953	122660586	12874161	976	45709											
FAM24B	196792	broad.mit.edu	37	chr10	124608920	124608920	+	Frame_Shift_Del	DEL	T	T	-													acaccttgtctgggttgtgaTtttttacagccacagcttca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:124608919_124608919AT>A	uc001lgt.3	-	3	463	c.129_129AT>T	c.(127-129)aatfs	p.N43fs	CUZD1_uc001lgs.3_5'UTR|CUZD1_uc010qtz.2_Intron|FAM24B_uc021qai.1_Frame_Shift_Del_p.N43fs	NM_152644	NP_689857	Q8N5W8	FA24B_HUMAN	Homo sapiens family with sequence similarity 24, member B (FAM24B), transcript variant 1, mRNA.	43						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		CTGGGTTGTGATTTTTTACAG	0.473													-	124608920	T	-	124608920	7	5	63	1	0	1	0	1	0	0	0	0	5548	1493	52	0	160	0	FAM24B	10	124608920	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	1948334	124608920	10925827	977	45710											
MMP21	118856	broad.mit.edu	37	chr10	127464267	127464267	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaatgggcttggcctggcGcagtggggacggctccaggt	19	10	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:127464267G>T	uc001liu.2	-	1	124	c.124C>A	c.(124-126)CGC>AGC	p.R42S		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	matrix metalloproteinase 21 preproprotein	42					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTGGCCTGGCGCAGTGGGGAC	0.667													T	127464267	G	T	127464267	3	4	63	1	0	0	0	0	1	0	0	0	9660	1087	38	5	1613	5	MMP21	10	127464267	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2855347	127464267	8070480	978	45711											
PTPRE	5791	broad.mit.edu	37	chr10	129870413	129870413	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttgcagatgacttcaacCgagtgatcctttccatgaaa	8	10	1	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:129870413C>T	uc001lkb.2	+	16	1678	c.1399C>T	c.(1399-1401)CGA>TGA	p.R467*	PTPRE_uc009yat.2_Nonsense_Mutation_p.R478*|PTPRE_uc009yau.2_Nonsense_Mutation_p.R467*|PTPRE_uc001lkd.2_Nonsense_Mutation_p.R409*|PTPRE_uc010quq.1_Nonsense_Mutation_p.R368*	NM_006504	NP_006495	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	467	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(1)	1		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TGACTTCAACCGAGTGATCCT	0.403													T	129870413	C	T	129870413	4	4	63	1	0	0	0	0	0	1	0	0	12800	644	23	1	1492	1	PTPRE	10	129870413	Nonsense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2406146	129870413	5664334	979	45712											
JAKMIP3	282973	broad.mit.edu	37	chr10	133963536	133963536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggacatcctgggcgataaCgccgtaagtgtatgtcgctc	12	11	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:133963536C>T	uc001lkx.3	+	15	1998	c.1998C>T	c.(1996-1998)AAC>AAT	p.N666N	JAKMIP3_uc009yba.1_Silent_p.N103N	NM_001105521	NP_001098991			Janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGGGCGATAACGCCGTAAGTG	0.607													T	133963536	C	T	133963536	2	4	63	1	0	0	0	0	0	0	0	1	7942	535	19	1		1	JAKMIP3	10	133963536	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4093123	133963536	1571211	980	45713											
JAKMIP3	282973	broad.mit.edu	37	chr10	133976761	133976761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgccctgcagcaggagGccggggctaaggtggctgag	18	9	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:133976761G>A	uc001lkx.3	+	19	2263	c.2263G>A	c.(2263-2265)GCC>ACC	p.A755T	JAKMIP3_uc009yba.1_Missense_Mutation_p.A192T	NM_001105521	NP_001098991			Janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GCAGCAGGAGGCCGGGGCTAA	0.627													A	133976761	G	A	133976761	3	1	63	1	0	0	0	0	1	0	0	0	7942	1203	42	2	2337	2	JAKMIP3	10	133976761	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	13225	133976761	1557986	981	45714											
PWWP2B	170394	broad.mit.edu	37	chr10	134218281	134218281	+	Frame_Shift_Del	DEL	C	C	-													ctcctgcccgcggggttcagCcccccgagaccacccgcccc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:134218280_134218280GC>G	uc001lll.4	+	1	305	c.276_276GC>G	c.(274-276)cagfs	p.Q92fs	PWWP2B_uc009ybe.3_Frame_Shift_Del_p.Q92fs	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	92	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GCGGGGTTCAGCCCCCCGAGA	0.746													-	134218281	C	-	134218281	7	5	63	1	0	1	0	1	0	0	0	0	12846	739	26	0	283	0	PWWP2B	10	134218281	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	241520	134218281	1316466	982	45715											
C10orf93	255352	broad.mit.edu	37	chr10	134752232	134752232	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctgccagtagaggactgAtgcattgtacaccaaaaagt	9	9	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:134752232A>G	uc001llt.1	-	5	473	c.397T>C	c.(397-399)TCA>CCA	p.S133P	C10orf93_uc001llu.2_Missense_Mutation_p.S133P	NM_173572	NP_775843	Q5SR76	CJ093_HUMAN	hypothetical protein LOC255352	133							binding			pancreas(1)	1		all_cancers(35;1.8e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Colorectal(31;0.119)|Glioma(114;0.172)|Melanoma(40;0.175)		Epithelial(32;4.28e-05)|OV - Ovarian serous cystadenocarcinoma(35;4.31e-05)|all cancers(32;5.02e-05)		TAGAGGACTGATGCATTGTAC	0.562													G	134752232	A	G	134752232	3	3	63	1	0	0	0	0	1	0	0	0	1625	333	12	3	840	3	C10orf93	10	134752232	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	533951	134752232	782515	983	45716											
ZNF511	118472	broad.mit.edu	37	chr10	135125330	135125330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccggcaggtgagaggcGgatctacagacataggtcag	15	9	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:135125330G>A	uc001lml.1	+	5	690	c.665G>A	c.(664-666)CGG>CAG	p.R222Q	TUBGCP2_uc001lmg.1_5'Flank|TUBGCP2_uc010qvc.1_5'Flank|TUBGCP2_uc009ybk.1_5'Flank|TUBGCP2_uc010qvd.1_5'Flank|TUBGCP2_uc001lmh.1_RNA|ZNF511_uc001lmj.1_Missense_Mutation_p.R222Q|ZNF511_uc001lmk.1_3'UTR|ZNF511_uc001lmm.1_RNA			Q8NB15	ZN511_HUMAN	SubName: Full=cDNA FLJ78327; SubName: Full=Zinc finger protein 511, isoform CRA_d;	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		GGTGAGAGGCGGATCTACAGA	0.597													A	135125330	G	A	135125330	3	1	63	1	0	0	0	0	1	0	0	0	17952	1116	39	1	683	1	ZNF511	10	135125330	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	373098	135125330	409417	984	45717											
CYP2E1	1571	broad.mit.edu	37	chr10	135350651	135350651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagagatgccctacatggAtgctgtggtgcatgagattc	13	8	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:135350651A>G	uc001lnj.1	+	7	1085	c.1052A>G	c.(1051-1053)GAT>GGT	p.D351G	CYP2E1_uc001lnk.1_Missense_Mutation_p.D214G|CYP2E1_uc009ybl.1_Missense_Mutation_p.D152G|CYP2E1_uc009ybm.1_Missense_Mutation_p.D5G|CYP2E1_uc001lnl.1_Missense_Mutation_p.D152G	NM_000773	NP_000764	P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E,	351					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			central_nervous_system(3)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CCCTACATGGATGCTGTGGTG	0.522									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				G	135350651	A	G	135350651	3	3	63	1	0	0	0	0	1	0	0	0	4170	333	12	3	1078	3	CYP2E1	10	135350651	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	225321	135350651	184096	985	45718											
SYCE1	93426	broad.mit.edu	37	chr10	135369214	135369214	+	Splice_Site	DEL	G	G	-													tcttcctgaaacagctgcctGgggggcccagtagggggtgg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:135369213_135369213TG>T	uc001lno.2	-	11	825	c.720_splice	c.e11-1	p.V240_splice	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Splice_Site_p.V112_splice|SYCE1_uc009ybn.2_Splice_Site_p.V240_splice|SYCE1_uc001lnn.2_Splice_Site_p.V204_splice	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.	240					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AACAGCTGCCTGGGGGGCCCA	0.642													-	135369214	G	-	135369214	8	5	63	1	0	1	0	1	0	0	1	0	15425	1363	47	0		0	SYCE1	10	135369214	Splice_Site	DEL	G	TCGA-BR-8078-01A-11D-2340-08	18563	135369214	165533	986	45719											
ATHL1	80162	broad.mit.edu	37	chr11	292922	292922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaggctggtggctgggacGtggtcagggctgtggccgag	22	7	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:292922G>A	uc010qvu.1	+	7	1310	c.1195G>A	c.(1195-1197)GTG>ATG	p.V399M	ATHL1_uc001lor.3_Missense_Mutation_p.V222M|ATHL1_uc001los.1_Missense_Mutation_p.V399M|ATHL1_uc001lou.3_5'Flank|ATHL1_uc001lov.3_5'Flank	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1	399					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(1)|skin(1)	3		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGGCTGGGACGTGGTCAGGGC	0.632													A	292922	G	A	292922	3	1	63	1	0	0	0	0	1	0	0	0	1104	1145	40	1	1217	1	ATHL1	11	292922	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08		292922	134713594	987	45720											
DEAF1	10522	broad.mit.edu	37	chr11	679801	679801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgaggtcgtgatctgtcccGagggggtcacggtgactgga	17	10	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:679801G>A	uc001lqq.1	-	8	1706	c.1013C>T	c.(1012-1014)TCG>TTG	p.S338L	DEAF1_uc009ycf.1_RNA	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	338					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GATCTGTCCCGAGGGGGTCAC	0.652													A	679801	G	A	679801	3	1	63	1	0	0	0	0	1	0	0	0	4380	1059	37	1	704	1	DEAF1	11	679801	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	386879	679801	134326715	988	45721											
MUC6	4588	broad.mit.edu	37	chr11	1031856	1031856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcgctcacagtgacgaCggaggcccccagctccacga	12	16	1	1	rs148640037	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:1031856C>T	uc001lsw.2	-	3	364	c.313G>A	c.(313-315)GTC>ATC	p.V105I		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	105	VWFD 1.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTGACGACGGAGGCCCCC	0.547													T	1031856	C	T	1031856	3	4	63	1	0	0	0	0	1	0	0	0	9980	536	19	1	7130	1	MUC6	11	1031856	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	352055	1031856	133974660	989	45722											
MUC2	4583	broad.mit.edu	37	chr11	1078296	1078296	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcccctggagtttgggAacatgcagaagatcaaccag	11	10	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:1078296A>G	uc001lsx.1	+	5	610	c.583A>G	c.(583-585)AAC>GAC	p.N195D		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	195	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGAGTTTGGGAACATGCAGAA	0.662													G	1078296	A	G	1078296	3	3	63	1	0	0	0	0	1	0	0	0	9975	246	9	3	601	3	MUC2	11	1078296	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	46440	1078296	133928220	990	45723											
TNNI2	7136	broad.mit.edu	37	chr11	1861852	1861852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggcggagcactgcccgcCgctgcatatcccgggctcca	12	18	0	0	rs141603884		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:1861852C>T	uc010qxe.1	+	3	174	c.152C>T	c.(151-153)CCG>CTG	p.P51L	TNNI2_uc010qxc.1_Missense_Mutation_p.P49L|TNNI2_uc010qxd.1_Missense_Mutation_p.P49L	NM_001145841	NP_001139313	P48788	TNNI2_HUMAN	fast-twitch skeletal muscle troponin I isoform	51					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding				0		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACTGCCCGCCGCTGCATATC	0.662													T	1861852	C	T	1861852	3	4	63	1	0	0	0	0	1	0	0	0	16324	652	23	1	181	1	TNNI2	11	1861852	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	783556	1861852	133144664	991	45724											
ART1	417	broad.mit.edu	37	chr11	3681478	3681478	+	Frame_Shift_Del	DEL	C	C	-													ggagaggaagaggtgctgatCcccccctttgagaccttcca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:3681477_3681477TC>T	uc001lye.1	+	2	829	c.728_728TC>T	c.(727-729)atcfs	p.I243fs	ART1_uc009yeb.1_Frame_Shift_Del_p.I243fs	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	243					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GAGGTGCTGATCCCCCCCTTT	0.612													-	3681478	C	-	3681478	7	5	63	1	0	1	0	1	0	0	0	0	997	845	30	0	735	0	ART1	11	3681478	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	1819626	3681478	131325038	992	45725											
NUP98	4928	broad.mit.edu	37	chr11	3697519	3697519	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcaaagggactcgctgaGggtctggtgttgagtcggag	19	7	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:3697519G>T	uc001lyh.2	-	33	5564	c.5273C>A	c.(5272-5274)CCT>CAT	p.P1758H	NUP98_uc001lyi.2_Missense_Mutation_p.P1684H|NUP98_uc001lyg.2_Missense_Mutation_p.P723H	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1775					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GACTCGCTGAGGGTCTGGTGT	0.567			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								T	3697519	G	T	3697519	3	4	63	1	0	0	0	0	1	0	0	0	10773	1000	35	5	133	5	NUP98	11	3697519	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	16041	3697519	131308997	993	45726											
STIM1	6786	broad.mit.edu	37	chr11	4112898	4112898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagccagccgaaacacacGcattccccacctggctggca	9	17	0	0	rs140080199	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:4112898G>A	uc001lyv.2	+	12	2496	c.1928G>A	c.(1927-1929)CGC>CAC	p.R643H	STIM1_uc009yef.2_3'UTR|STIM1_uc009yeg.2_Missense_Mutation_p.R470H	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	643	Cytoplasmic (Potential).|Microtubule tip localization signal.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			pancreas(1)	1		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		CGAAACACACGCATTCCCCAC	0.592													A	4112898	G	A	4112898	3	1	63	1	0	0	0	0	1	0	0	0	15282	1087	38	1	1974	1	STIM1	11	4112898	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	415379	4112898	130893618	994	45727											
TRIM21	6737	broad.mit.edu	37	chr11	4406849	4406849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagcaaaaagtgccccttcCtgcgcacagagtctctgcag	9	13	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:4406849C>T	uc001lyy.1	-	7	1207	c.1094G>A	c.(1093-1095)AGG>AAG	p.R365K		NM_003141	NP_003132	P19474	RO52_HUMAN	tripartite motif protein 21	365	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		GTGCCCCTTCCTGCGCACAGA	0.527													T	4406849	C	T	4406849	3	4	63	1	0	0	0	0	1	0	0	0	16492	681	24	4	337	4	TRIM21	11	4406849	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	293951	4406849	130599667	995	45728											
FAM160A2	84067	broad.mit.edu	37	chr11	6239917	6239917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggagagaaacttgtcagCtgctcgtccatataggtcca	11	9	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:6239917C>T	uc001mcl.3	-	8	1707	c.1348G>A	c.(1348-1350)GCT>ACT	p.A450T	FAM160A2_uc001mck.3_Missense_Mutation_p.A450T|FAM160A2_uc001mcm.2_Missense_Mutation_p.A450T	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	450					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						AACTTGTCAGCTGCTCGTCCA	0.562													T	6239917	C	T	6239917	3	4	63	1	0	0	0	0	1	0	0	0	5469	797	28	2	1632	2	FAM160A2	11	6239917	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1833068	6239917	128766599	996	45729											
APBB1	322	broad.mit.edu	37	chr11	6424925	6424925	+	Frame_Shift_Del	DEL	G	G	-													tgtgagggggaggcccggccGgggggttcccactgggtggt					rs139929849		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:6424925delG	uc001mdb.1	-	3	949	c.849delC	c.(847-849)CCCfs	p.P283fs	APBB1_uc001mcz.1_5'Flank|APBB1_uc001mdd.3_Frame_Shift_Del_p.P63fs|APBB1_uc001mda.2_Intron|APBB1_uc001mdc.1_Frame_Shift_Del_p.P283fs|APBB1_uc010rab.1_5'Flank|APBB1_uc010rac.1_5'Flank|APBB1_uc010rad.1_5'Flank|APBB1_uc010rae.1_Frame_Shift_Del_p.P48fs|APBB1_uc010raf.1_Frame_Shift_Del_p.P24fs|APBB1_uc009yfa.2_Frame_Shift_Del_p.P24fs|APBB1_uc009yey.2_Frame_Shift_Del_p.P24fs|APBB1_uc010rag.1_Frame_Shift_Del_p.P24fs|APBB1_uc009yfb.2_Frame_Shift_Del_p.P24fs|APBB1_uc001mde.2_Frame_Shift_Del_p.P24fs|APBB1_uc010rah.1_Frame_Shift_Del_p.P24fs	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	283	WW.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AGGCCCGGCCGGGGGGTTCCC	0.652													-	6424925	G	-	6424925	7	5	63	1	0	1	0	1	0	0	0	0	759	1103	39	0	1331	0	APBB1	11	6424925	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	185008	6424925	128581591	997	45730											
TPP1	1200	broad.mit.edu	37	chr11	6636199	6636199	+	Frame_Shift_Del	DEL	C	C	-													tcattgatcaaggataggatCcccccaaacactggagtaga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:6636198_6636198TC>T	uc001mel.1	-	11	1511	c.1450_1450GA>A	c.(1450-1452)atcfs	p.I484fs	TAF10_uc001mej.2_5'Flank|TPP1_uc001mek.1_Frame_Shift_Del_p.I241fs	NM_000391	NP_000382	O14773	TPP1_HUMAN	Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.	484					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		AAGGATAGGATCCCCCCAAAC	0.512													-	6636199	C	-	6636199	7	5	63	1	0	1	0	1	0	0	0	0	16408	842	30	0	250	0	TPP1	11	6636199	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	211274	6636199	128370317	998	45731											
OR2D3	120775	broad.mit.edu	37	chr11	6942872	6942872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacttacagcacagaaatgGccatcttttcaatgggcgtg	9	10	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:6942872G>A	uc010rav.1	+	1	640	c.640G>A	c.(640-642)GCC>ACC	p.A214T		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	214	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACAGAAATGGCCATCTTTTC	0.468													A	6942872	G	A	6942872	3	1	63	1	0	0	0	0	1	0	0	0	10995	1203	42	2	642	2	OR2D3	11	6942872	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	306673	6942872	128063644	999	45732											
PPFIBP2	8495	broad.mit.edu	37	chr11	7663564	7663564	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggaaatttctacactgAcacgctggggatggcagagt	13	8	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:7663564A>G	uc001mfj.3	+	17	1941	c.1553A>G	c.(1552-1554)GAC>GGC	p.D518G	PPFIBP2_uc010rbb.1_Missense_Mutation_p.D441G|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Missense_Mutation_p.D452G|PPFIBP2_uc010rbd.1_Missense_Mutation_p.D360G|PPFIBP2_uc010rbe.1_Missense_Mutation_p.D406G|PPFIBP2_uc001mfl.3_Missense_Mutation_p.D375G|PPFIBP2_uc009yfj.1_Missense_Mutation_p.D162G	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2	518					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			ovary(2)|breast(2)	4				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TTCTACACTGACACGCTGGGG	0.532													G	7663564	A	G	7663564	3	3	63	1	0	0	0	0	1	0	0	0	12314	275	10	3	1615	3	PPFIBP2	11	7663564	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	720692	7663564	127342952	1000	45733											
CTR9	9646	broad.mit.edu	37	chr11	10789974	10789974	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcaacagcagatattagtgAtgtgtggctgaacttagcac	11	7	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:10789974A>T	uc001mja.2	+	16	2194	c.2045A>T	c.(2044-2046)GAT>GTT	p.D682V		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	682	TPR 15.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GATATTAGTGATGTGTGGCTG	0.393													T	10789974	A	T	10789974	3	4	63	1	0	0	0	0	1	0	0	0	4024	333	12	5	2107	5	CTR9	11	10789974	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	3126410	10789974	124216542	1001	45734											
MICAL2	9645	broad.mit.edu	37	chr11	12234929	12234929	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctttcatcttcaatcagaaAttttttcaggaccttaaaga	5	8	5	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:12234929A>T	uc001mjz.2	+	7	1107	c.819A>T	c.(817-819)AAA>AAT	p.K273N	MICAL2_uc010rch.1_Missense_Mutation_p.K273N|MICAL2_uc001mka.2_Missense_Mutation_p.K273N|MICAL2_uc010rci.1_Missense_Mutation_p.K273N|MICAL2_uc001mkb.2_Missense_Mutation_p.K273N|MICAL2_uc001mkc.2_Missense_Mutation_p.K273N|MICAL2_uc001mkd.2_Missense_Mutation_p.K102N|MICAL2_uc001mke.2_5'Flank	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	273						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		TCAATCAGAAATTTTTTCAGG	0.468													T	12234929	A	T	12234929	3	4	63	1	0	0	0	0	1	0	0	0	9570	98	4	5	837	5	MICAL2	11	12234929	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	1444955	12234929	122771587	1002	45735											
ARNTL	406	broad.mit.edu	37	chr11	13393879	13393879	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagttccacaaccagtgaaCggggaaatcagggtgaaatc	12	8	1	2	rs144535593		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:13393879C>T	uc001mkr.2	+	13	1398	c.990C>T	c.(988-990)AAC>AAT	p.N330N	ARNTL_uc001mko.2_Silent_p.N286N|ARNTL_uc001mkp.2_Silent_p.N329N|ARNTL_uc001mkq.2_Silent_p.N329N|ARNTL_uc001mks.2_Silent_p.N287N|ARNTL_uc001mkt.2_Silent_p.N330N|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Intron|ARNTL_uc001mkv.1_Silent_p.N287N|ARNTL_uc001mkw.2_Silent_p.N287N|ARNTL_uc001mkx.2_Silent_p.N328N	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	330	PAS 2.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0				Epithelial(150;0.0243)		AACCAGTGAACGGGGAAATCA	0.468													T	13393879	C	T	13393879	2	4	63	1	0	0	0	0	0	0	0	1	967	535	19	1		1	ARNTL	11	13393879	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1158950	13393879	121612637	1003	45736											
PTH	5741	broad.mit.edu	37	chr11	13514363	13514363	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaacaaattgccaacaTgacaatcataactttagcca	4	9	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:13514363T>C	uc001mlb.2	-	2	155	c.40A>G	c.(40-42)ATG>GTG	p.M14V		NM_000315	NP_000306	P01270	PTHY_HUMAN	parathyroid hormone preproprotein	14					bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		ATTGCCAACATGACAATCATA	0.303													C	13514363	T	C	13514363	3	2	63	1	0	0	0	0	1	0	0	0	12757	1464	51	3	315	3	PTH	11	13514363	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	120484	13514363	121492153	1004	45737											
PLEKHA7	144100	broad.mit.edu	37	chr11	16837793	16837793	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggagggcatggagcgtcGgtccacatgagatgagttct	15	8	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:16837793G>A	uc001mmo.2	-	12	1900	c.1885C>T	c.(1885-1887)CGA>TGA	p.R629*	PLEKHA7_uc010rcu.1_Nonsense_Mutation_p.R629*|PLEKHA7_uc010rcv.1_Nonsense_Mutation_p.R203*|PLEKHA7_uc001mmn.2_Nonsense_Mutation_p.R337*	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	629	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						ATGGAGCGTCGGTCCACATGA	0.308													A	16837793	G	A	16837793	4	1	63	1	0	0	0	0	0	1	0	0	12061	1124	39	1	1528	1	PLEKHA7	11	16837793	Nonsense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3323430	16837793	118168723	1005	45738											
NAV2	89797	broad.mit.edu	37	chr11	20122554	20122554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccatcctgcagcgctacGtctccctcctgatagagcac	8	17	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:20122554G>A	uc001mpr.3	+	32	6623	c.6262G>A	c.(6262-6264)GTC>ATC	p.V2088I	NAV2_uc001mpp.2_Missense_Mutation_p.V2021I|NAV2_uc009yhx.2_Missense_Mutation_p.V1149I|NAV2_uc009yhz.2_Missense_Mutation_p.V730I|NAV2_uc001mpu.2_Missense_Mutation_p.V523I	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	2144						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						GCAGCGCTACGTCTCCCTCCT	0.552													A	20122554	G	A	20122554	3	1	63	1	0	0	0	0	1	0	0	0	10184	1145	40	1	6497	1	NAV2	11	20122554	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3284761	20122554	114883962	1006	45739											
NAV2	89797	broad.mit.edu	37	chr11	20136150	20136150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttcagctctatggaaggCgcgccccctgggaggatcct	13	12	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:20136150C>T	uc001mpr.3	+	37	7343	c.6982C>T	c.(6982-6984)CGC>TGC	p.R2328C	NAV2_uc001mpp.2_Missense_Mutation_p.R2261C|NAV2_uc009yhx.2_Missense_Mutation_p.R1389C|NAV2_uc009yhz.2_Missense_Mutation_p.R970C|NAV2_uc001mpu.2_Missense_Mutation_p.R763C|NAV2_uc001mpv.2_Missense_Mutation_p.R87C	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	2384						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						CTATGGAAGGCGCGCCCCCTG	0.572													T	20136150	C	T	20136150	3	4	63	1	0	0	0	0	1	0	0	0	10184	768	27	1	7237	1	NAV2	11	20136150	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	13596	20136150	114870366	1007	45740											
SLC6A5	9152	broad.mit.edu	37	chr11	20628625	20628625	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcttggaggtgtcgcTgggccagtttgccagccagg	14	11	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:20628625T>C	uc001mqd.2	+	4	1025	c.752T>C	c.(751-753)CTG>CCG	p.L251P	SLC6A5_uc009yic.2_Missense_Mutation_p.L16P	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	251					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)|skin(1)	4					Glycine(DB00145)	GAGGTGTCGCTGGGCCAGTTT	0.577													C	20628625	T	C	20628625	3	2	63	1	0	0	0	0	1	0	0	0	14687	1580	55	3	766	3	SLC6A5	11	20628625	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	492475	20628625	114377891	1008	45741											
MUC15	143662	broad.mit.edu	37	chr11	26586992	26586992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagagcaggtgtagcattGggatgtgctgagatgggcaa	17	5	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:26586992G>A	uc001mqx.2	-	2	680	c.414C>T	c.(412-414)CCC>CCT	p.P138P	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Silent_p.P165P|MUC15_uc001mqy.2_Silent_p.P165P	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b	138	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						GTGTAGCATTGGGATGTGCTG	0.443													A	26586992	G	A	26586992	2	1	63	1	0	0	0	0	0	0	0	1	9972	1335	47	4		4	MUC15	11	26586992	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	5958367	26586992	108419524	1009	45742											
LGR4	55366	broad.mit.edu	37	chr11	27389978	27389978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggtgcaaatgaaaaaaaCgccacagggcagaaaaagat	10	6	0	3	rs138381781	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:27389978C>T	uc001mrj.3	-	18	2777	c.2292G>A	c.(2290-2292)GCG>GCA	p.A764A	LGR4_uc001mrk.3_Silent_p.A740A	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	leucine-rich repeat-containing G protein-coupled	764	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1						ATGAAAAAAACGCCACAGGGC	0.408													T	27389978	C	T	27389978	2	4	63	1	0	0	0	0	0	0	0	1	8756	523	19	1		1	LGR4	11	27389978	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	802986	27389978	107616538	1010	45743											
LGR4	55366	broad.mit.edu	37	chr11	27403790	27403790	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaaattcccccaagttatTataattcaagtctctagaaa	5	8	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:27403790T>C	uc001mrj.3	-	7	1188	c.703A>G	c.(703-705)AAT>GAT	p.N235D	LGR4_uc001mrk.3_Missense_Mutation_p.N211D	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	leucine-rich repeat-containing G protein-coupled	235	Extracellular (Potential).|LRR 8.					integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1						CCCAAGTTATTATAATTCAAG	0.313													C	27403790	T	C	27403790	3	2	63	1	0	0	0	0	1	0	0	0	8756	1754	61	3	2200	3	LGR4	11	27403790	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	13812	27403790	107602726	1011	45744											
DCDC1	341019	broad.mit.edu	37	chr11	31327282	31327282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaagaacactcgtcttgCggccatgttcagattcagct	9	12	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:31327282C>T	uc001msv.2	-	6	836	c.634G>A	c.(634-636)GCA>ACA	p.A212T	DCDC1_uc001msu.1_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	212	Doublecortin.				intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					ACTCGTCTTGCGGCCATGTTC	0.438													T	31327282	C	T	31327282	3	4	63	1	0	0	0	0	1	0	0	0	4284	768	27	1	446	1	DCDC1	11	31327282	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3923492	31327282	103679234	1012	45745											
PAX6	5080	broad.mit.edu	37	chr11	31822335	31822335	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacatccttagtttatcatAcatgccgtctgcgcccatct	5	14	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:31822335A>G	uc001mtd.3	-	6	1317	c.427T>C	c.(427-429)TAT>CAT	p.Y143H	PAX6_uc001mte.3_Missense_Mutation_p.Y143H|PAX6_uc001mtg.3_Missense_Mutation_p.Y157H|PAX6_uc001mtf.3_Missense_Mutation_p.Y143H|PAX6_uc001mth.3_Missense_Mutation_p.Y143H|PAX6_uc009yjr.2_Missense_Mutation_p.Y143H	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	143	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					AGTTTATCATACATGCCGTCT	0.517									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				G	31822335	A	G	31822335	3	3	63	1	0	0	0	0	1	0	0	0	11483	391	14	3	869	3	PAX6	11	31822335	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	495053	31822335	103184181	1013	45746											
CAT	847	broad.mit.edu	37	chr11	34489885	34489885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaacagaggaaacgtctGtgtgagaacattgccggcca	14	8	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:34489885G>A	uc001mvm.2	+	11	1460	c.1377G>A	c.(1375-1377)CTG>CTA	p.L459L	CAT_uc001mvn.2_Silent_p.L68L	NM_001752	NP_001743	P04040	CATA_HUMAN	catalase	459					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	GGAAACGTCTGTGTGAGAACA	0.478													A	34489885	G	A	34489885	2	1	63	1	0	0	0	0	0	0	0	1	2686	1364	48	4		4	CAT	11	34489885	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2667550	34489885	100516631	1014	45747											
EHF	26298	broad.mit.edu	37	chr11	34668230	34668230	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagcatctgaagtggaaCggtgactctctctttctgtg	11	9	4	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:34668230C>T	uc001mvr.1	+	3	453	c.342C>T	c.(340-342)AAC>AAT	p.N114N	EHF_uc009yke.1_Silent_p.N114N|EHF_uc009ykf.1_Silent_p.N117N	NM_012153	NP_036285	Q9NZC4	EHF_HUMAN	ets homologous factor	114	PNT.				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			TGAAGTGGAACGGTGACTCTC	0.557													T	34668230	C	T	34668230	2	4	63	1	0	0	0	0	0	0	0	1	4981	550	19	1		1	EHF	11	34668230	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	178345	34668230	100338286	1015	45748											
CD44	960	broad.mit.edu	37	chr11	35211581	35211581	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacgaagacagtccctggatCaccgacagcacagacagaat	10	12	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:35211581C>T	uc001mvu.2	+	5	1070	c.636C>T	c.(634-636)ATC>ATT	p.I212I	CD44_uc001mvv.2_Silent_p.I212I|CD44_uc001mvw.2_Silent_p.I212I|CD44_uc001mvx.2_Silent_p.I212I|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Silent_p.I212I|CD44_uc010rer.1_Silent_p.I212I|CD44_uc009ykh.2_RNA|CD44_uc010res.1_5'UTR|CD44_uc010ret.1_RNA|CD44_uc010reu.1_5'UTR	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	212	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			pancreas(1)	1	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	GTCCCTGGATCACCGACAGCA	0.502													T	35211581	C	T	35211581	2	4	63	1	0	0	0	0	0	0	0	1	3017	816	29	4		4	CD44	11	35211581	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	543351	35211581	99794935	1016	45749											
LRRC4C	57689	broad.mit.edu	37	chr11	40136717	40136717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtcagggatgtggaggcccGacatttcagctcagctgcca	13	11	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:40136717G>A	uc001mxa.1	-	2	3090	c.1126C>T	c.(1126-1128)CGG>TGG	p.R376W	LRRC4C_uc001mxc.1_Missense_Mutation_p.R372W|LRRC4C_uc001mxd.1_Missense_Mutation_p.R372W|LRRC4C_uc001mxb.1_Missense_Mutation_p.R372W	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	376	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGGAGGCCCGACATTTCAGC	0.517													A	40136717	G	A	40136717	3	1	63	1	0	0	0	0	1	0	0	0	9008	1057	37	1	800	1	LRRC4C	11	40136717	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	4925136	40136717	94869799	1017	45750											
HSD17B12	51144	broad.mit.edu	37	chr11	43861602	43861602	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagtataggagcaagggCgtctttgtgcaggtgagtgg	19	4	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:43861602C>T	uc001mxq.3	+	9	907	c.672C>T	c.(670-672)GGC>GGT	p.G224G		NM_016142	NP_057226	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	224					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity				0						GGAGCAAGGGCGTCTTTGTGC	0.433													T	43861602	C	T	43861602	2	4	63	1	0	0	0	0	0	0	0	1	7381	755	27	1		1	HSD17B12	11	43861602	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3724885	43861602	91144914	1018	45751											
ALX4	60529	broad.mit.edu	37	chr11	44286458	44286458	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggccttcatgcggagggcCgcgatgctcgaggtcttgcg	16	11	2	0	rs149365713		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:44286458C>T	uc001myb.2	-	4	1286	c.1182G>A	c.(1180-1182)GCG>GCA	p.A394A		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	394	OAR.				hair follicle development						0						TGCGGAGGGCCGCGATGCTCG	0.672													T	44286458	C	T	44286458	2	4	63	1	0	0	0	0	0	0	0	1	558	639	23	1		1	ALX4	11	44286458	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	424856	44286458	90720058	1019	45752											
PRDM11	56981	broad.mit.edu	37	chr11	45204538	45204538	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcaccatcccacagggcaTggaggtggtcaaggacacta	12	12	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:45204538T>C	uc001myo.2	+	5	701	c.452T>C	c.(451-453)ATG>ACG	p.M151T		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	PR domain containing 11	151	SET.									upper_aerodigestive_tract(1)	1						CCACAGGGCATGGAGGTGGTC	0.617													C	45204538	T	C	45204538	3	2	63	1	0	0	0	0	1	0	0	0	12452	1464	51	3	466	3	PRDM11	11	45204538	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	918080	45204538	89801978	1020	45753											
CHST1	8534	broad.mit.edu	37	chr11	45672017	45672017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccggctggccccgcggcGgaagatcctgtcggtggtgt	17	13	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:45672017G>A	uc001mys.1	-	4	1128	c.457C>T	c.(457-459)CGC>TGC	p.R153C		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	153	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCCCCGCGGCGGAAGATCCTG	0.692													A	45672017	G	A	45672017	3	1	63	1	0	0	0	0	1	0	0	0	3397	1116	39	1	782	1	CHST1	11	45672017	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	467479	45672017	89334499	1021	45754											
F2	2147	broad.mit.edu	37	chr11	46749689	46749689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagaatgaccttctggtgcGcattggcaagcactcccgca	11	13	1	2	rs121918485		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:46749689G>A	uc001ndf.3	+	10	1317	c.1274G>A	c.(1273-1275)CGC>CAC	p.R425H	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	425	Peptidase S1.		R -> C (in FA2D; Quick-1).		activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			ovary(3)	3		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	CTTCTGGTGCGCATTGGCAAG	0.642													A	46749689	G	A	46749689	3	1	63	1	0	0	0	0	1	0	0	0	5342	1087	38	1	1312	1	F2	11	46749689	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1077672	46749689	88256827	1022	45755											
C11orf49	79096	broad.mit.edu	37	chr11	47159253	47159253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attactgtgtcctgatttccCgctggagctcactcagaaag	9	11	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:47159253C>T	uc001ndp.2	+	4	444	c.338C>T	c.(337-339)CCG>CTG	p.P113L	C11orf49_uc001nds.2_Missense_Mutation_p.P113L|C11orf49_uc001ndq.2_Missense_Mutation_p.P113L|C11orf49_uc001ndr.2_Missense_Mutation_p.P113L|C11orf49_uc010rgx.1_Missense_Mutation_p.P16L|C11orf49_uc010rgy.1_Missense_Mutation_p.P104L|C11orf49_uc010rgz.1_Missense_Mutation_p.P29L	NM_024113	NP_077018	Q9H6J7	CK049_HUMAN	hypothetical protein LOC79096 isoform 3	113											0						CCTGATTTCCCGCTGGAGCTC	0.478													T	47159253	C	T	47159253	3	4	63	1	0	0	0	0	1	0	0	0	1645	652	23	1	352	1	C11orf49	11	47159253	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	409564	47159253	87847263	1023	45756											
MADD	8567	broad.mit.edu	37	chr11	47308066	47308066	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcccgagagaaggccacGcccttccccagtctgaaagg	13	14	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:47308066G>A	uc001ner.1	+	15	2825	c.2634G>A	c.(2632-2634)ACG>ACA	p.T878T	MADD_uc001neq.2_Silent_p.T878T|MADD_uc001nev.1_Silent_p.T835T|MADD_uc001nes.1_Silent_p.T835T|MADD_uc001net.1_Silent_p.T878T|MADD_uc009yln.1_Silent_p.T835T|MADD_uc001neu.1_Silent_p.T835T|MADD_uc001nex.2_Silent_p.T878T|MADD_uc001nez.2_Silent_p.T835T|MADD_uc001new.2_Silent_p.T878T	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	878					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		AGAAGGCCACGCCCTTCCCCA	0.562													A	47308066	G	A	47308066	2	1	63	1	0	0	0	0	0	0	0	1	9152	1074	38	1		1	MADD	11	47308066	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	148813	47308066	87698450	1024	45757											
CELF1	10658	broad.mit.edu	37	chr11	47493853	47493853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatgccaatctgaaagcCgttcatggactggatggcag	11	10	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:47493853C>T	uc001nfl.2	-	12	1400	c.1390G>A	c.(1390-1392)GGC>AGC	p.G464S	CELF1_uc001nfk.1_5'Flank|CELF1_uc001nfm.2_Missense_Mutation_p.G461S|CELF1_uc001nfn.2_Missense_Mutation_p.G460S|CELF1_uc001nfo.1_Missense_Mutation_p.G490S|CELF1_uc010rhm.1_Missense_Mutation_p.G463S|CELF1_uc001nfp.2_Missense_Mutation_p.G492S|CELF1_uc001nfq.1_Missense_Mutation_p.G464S|CELF1_uc001nfr.1_Missense_Mutation_p.G464S	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	CUG triplet repeat, RNA-binding protein 1	464	RRM 3.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|ovary(1)	3						ATCTGAAAGCCGTTCATGGAC	0.507													T	47493853	C	T	47493853	3	4	63	1	0	0	0	0	1	0	0	0	3215	652	23	1	74	1	CELF1	11	47493853	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	185787	47493853	87512663	1025	45758											
OR4A15	81328	broad.mit.edu	37	chr11	55136189	55136189	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtcactgtggtcatttTattctttgtcccctgtatct	6	12	4	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:55136189T>A	uc010rif.1	+	1	830	c.830T>A	c.(829-831)TTA>TAA	p.L277*		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	277	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GTGGTCATTTTATTCTTTGTC	0.408													A	55136189	T	A	55136189	4	1	63	1	0	0	0	0	0	1	0	0	11040	1764	61	5	832	5	OR4A15	11	55136189	Nonsense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	7642336	55136189	79870327	1026	45759											
OR8K5	219453	broad.mit.edu	37	chr11	55926924	55926924	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acctcttcgtttcttaagctGtaaatcaaagggttaagcat	7	8	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:55926924G>C	uc010rja.1	-	1	870	c.870C>G	c.(868-870)TAC>TAG	p.Y290*		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K,	290	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TTCTTAAGCTGTAAATCAAAG	0.308													C	55926924	G	C	55926924	4	2	63	1	0	0	0	0	0	1	0	0	11245	1372	48	5	56	5	OR8K5	11	55926924	Nonsense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	790735	55926924	79079592	1027	45760											
MPEG1	219972	broad.mit.edu	37	chr11	58978570	58978570	+	Frame_Shift_Del	DEL	G	G	-													tgaaaggtgggagcctggcaGggggcagggaccctcctgtg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:58978569_58978569AG>A	uc001nnu.4	-	0	1926	c.1770_1770CT>T	c.(1768-1770)cctfs	p.P590fs		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	590						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GGAGCCTGGCAGGGGGCAGGG	0.592													-	58978570	G	-	58978570	7	5	63	1	0	1	0	1	0	0	0	0	9723	1000	35	0	385	0	MPEG1	11	58978570	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	3051646	58978570	76027946	1028	45761											
OR4D11	219986	broad.mit.edu	37	chr11	59271133	59271134	+	Frame_Shift_Ins	INS	-	-	T													ccagagtttggtcttgtttcINStttttttatgtcttgtgtac							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:59271133_59271134insT	uc001noa.1	+	1	85_86	c.85_86insT	c.(85-87)CTTfs	p.L29fs		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GGTCTTGTTTCTTTTTTTATGT	0.436													T	59271134	-	T	59271133	7	5	63	1	0	1	1	0	0	0	0	0	11055	913	32	0	87	0	OR4D11	11	59271133	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	292563	59271133	75735383	1029	45762	170	2									
OR4D11	219986	broad.mit.edu	37	chr11	59271134	59271135	+	Frame_Shift_Ins	INS	-	-	T													cagagtttggtcttgtttctINSttttttatgtcttgtgtaca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:59271133_59271134C>CT	uc001noa.1	+	0	85_86	c.85_86C>CT	c.(85-87)cttfs	p.L29fs		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GGTCTTGTTTCTTTTTTTATGT	0.436													T	59271135	-	T	59271134	7	5	63	1	0	1	1	0	0	0	0	0	11055	1609	56	0	88	0	OR4D11	11	59271134	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1	59271134	75735382	1030	45763	170	2									
CCDC86	79080	broad.mit.edu	37	chr11	60609936	60609936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagtacagtcctgaatcCccacgatgtcagccgaagcc	9	15	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:60609936C>T	uc001nqa.2	+	1	508	c.339C>T	c.(337-339)TCC>TCT	p.S113S	CCDC86_uc001nqb.2_Intron	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	113	Pro-rich.				interspecies interaction between organisms	nucleus					0						GTCCTGAATCCCCACGATGTC	0.612													T	60609936	C	T	60609936	2	4	63	1	0	0	0	0	0	0	0	1	2861	610	22	4		4	CCDC86	11	60609936	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1338802	60609936	74396580	1031	45764											
TMEM132A	54972	broad.mit.edu	37	chr11	60704176	60704176	+	Frame_Shift_Del	DEL	G	G	-													ccctggcccgaaaggaggctGgggggcggcggaagcgagta							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:60704176delG	uc001nqj.2	+	11	3062	c.2869delG	c.(2869-2871)GGGfs	p.G957fs	TMEM132A_uc001nqi.2_Frame_Shift_Del_p.G958fs|TMEM132A_uc001nqm.2_Frame_Shift_Del_p.G167fs	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	957	Cytoplasmic (Potential).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						AAAGGAGGCTGGGGGGCGGCG	0.687													-	60704176	G	-	60704176	7	5	63	1	0	1	0	1	0	0	0	0	16042	1348	47	0	2914	0	TMEM132A	11	60704176	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	94240	60704176	74302340	1032	45765											
C11orf9	745	broad.mit.edu	37	chr11	61533538	61533538	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcccccctgggggtggAccctccccggggcgccatgg	16	17	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:61533538A>G	uc001nsc.1	+	3	339	c.243A>G	c.(241-243)GGA>GGG	p.G81G	C11orf9_uc001nse.1_Silent_p.G72G	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	81	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						CTGGGGGTGGACCCTCCCCGG	0.711													G	61533538	A	G	61533538	2	3	63	1	0	0	0	0	0	0	0	1	1671	262	10	3		3	C11orf9	11	61533538	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	829362	61533538	73472978	1033	45766											
FADS3	3995	broad.mit.edu	37	chr11	61646235	61646235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctttagctgccccatcaCgaacttctgggccacgtggt	9	15	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:61646235C>T	uc001nsm.2	-	4	760	c.607G>A	c.(607-609)GTG>ATG	p.V203M	FADS3_uc001nsn.2_Missense_Mutation_p.V79M	NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	203	Cytoplasmic (Potential).				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			ovary(1)|pancreas(1)	2						TGCCCCATCACGAACTTCTGG	0.637													T	61646235	C	T	61646235	3	4	63	1	0	0	0	0	1	0	0	0	5367	536	19	1	766	1	FADS3	11	61646235	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	112697	61646235	73360281	1034	45767											
EML3	256364	broad.mit.edu	37	chr11	62376111	62376111	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtcccagatgtgaaccAcaggctgcaggggctggtgg	16	10	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:62376111A>G	uc001ntu.1	-	9	1321	c.1013T>C	c.(1012-1014)GTG>GCG	p.V338A	EML3_uc001ntr.1_Missense_Mutation_p.V310A|EML3_uc001nts.1_Missense_Mutation_p.V310A|EML3_uc001ntt.1_Missense_Mutation_p.V222A|EML3_uc010rly.1_Missense_Mutation_p.V338A|EML3_uc009yny.1_Missense_Mutation_p.V121A	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	338	WD 1.					cytoplasm|microtubule	protein binding			ovary(1)	1						GATGTGAACCACAGGCTGCAG	0.567													G	62376111	A	G	62376111	3	3	63	1	0	0	0	0	1	0	0	0	5098	159	6	3	1733	3	EML3	11	62376111	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	729876	62376111	72630405	1035	45768											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62491839	62491839	+	Frame_Shift_Del	DEL	C	C	-													ctcatcccgctgtctctttaCcccccgccgctcaccatctg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:62491838_62491838AC>A	uc001nuw.3	-	1	828	c.599_599GT>T	c.(598-600)gtafs	p.V200fs	HNRNPUL2_uc001nuu.2_Non-coding_Transcript	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.	200	Glu-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTGTCTCTTTACCCCCCGCCG	0.498													-	62491839	C	-	62491839	7	5	63	1	0	1	0	1	0	0	0	0	7275	507	18	0	1697	0	HNRNPUL2	11	62491839	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	115728	62491839	72514677	1036	45769											
ATL3	25923	broad.mit.edu	37	chr11	63420050	63420050	+	Splice_Site	DEL	A	A	-													catcagaacaactgcaacctAaaaaaaaggaaaatacaaac							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:63420049_63420049TA>T	uc001nxk.1	-	4	682	c.406_splice	c.e4-1	p.V136_splice	ATL3_uc010rms.1_Splice_Site_p.V118_splice	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	Homo sapiens atlastin GTPase 3 (ATL3), mRNA.	136					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AACTGCAACCTAAAAAAAAGG	0.373													-	63420050	A	-	63420050	8	5	63	1	0	1	0	1	0	0	1	0	1108	377	13	0		0	ATL3	11	63420050	Splice_Site	DEL	A	TCGA-BR-8078-01A-11D-2340-08	928211	63420050	71586466	1037	45770											
FLRT1	23769	broad.mit.edu	37	chr11	63884684	63884684	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccccgcggcctgttcgaCgacctggggaacctggccca	13	17	0	0	rs151215662		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:63884684C>T	uc001nyi.1	+	2	1286	c.945C>T	c.(943-945)GAC>GAT	p.D315D	MACROD1_uc001nyh.2_Intron	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein	287	Extracellular (Potential).|LRR 10.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity				0						GCCTGTTCGACGACCTGGGGA	0.642													T	63884684	C	T	63884684	2	4	63	1	0	0	0	0	0	0	0	1	5938	535	19	1		1	FLRT1	11	63884684	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	464634	63884684	71121832	1038	45771											
MACROD1	28992	broad.mit.edu	37	chr11	63918791	63918791	+	Frame_Shift_Del	DEL	T	T	-													tctcattgagctgcttgtccTttttatacctgggctcctcc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:63918790_63918790CT>C	uc001nyh.3	-	2	557	c.438_438AG>G	c.(436-438)aagfs	p.K146fs		NM_014067	NP_054786	Q9BQ69	MACD1_HUMAN	Homo sapiens MACRO domain containing 1 (MACROD1), mRNA.	146	Macro.									breast(1)|large_intestine(3)|lung(6)|skin(1)	11						GCTGCTTGTCCTTTTTATACC	0.612													-	63918791	T	-	63918791	7	5	63	1	0	1	0	1	0	0	0	0	9145	1609	56	0	572	0	MACROD1	11	63918791	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	34107	63918791	71087725	1039	45772											
FERMT3	83706	broad.mit.edu	37	chr11	63987936	63987936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatgcccgctggatggctgGctgccgcctggcctccaaag	14	14	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:63987936G>A	uc001nyl.2	+	12	1501	c.1352G>A	c.(1351-1353)GGC>GAC	p.G451D	FERMT3_uc001nym.2_Missense_Mutation_p.G447D	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	fermitin family homolog 3 long form	451	PH.|FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			ovary(1)	1						TGGATGGCTGGCTGCCGCCTG	0.577													A	63987936	G	A	63987936	3	1	63	1	0	0	0	0	1	0	0	0	5819	1203	42	2	1394	2	FERMT3	11	63987936	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	69145	63987936	71018580	1040	45773											
NRXN2	9379	broad.mit.edu	37	chr11	64390437	64390437	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctctcggcggccagcgccaGcaccttgagcccattgtagt	12	15	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:64390437G>T	uc001oap.2	-	6	1334	c.823C>A	c.(823-825)CTG>ATG	p.L275M	NRXN2_uc001oar.2_Missense_Mutation_p.L1321M|NRXN2_uc001oas.2_Missense_Mutation_p.L1251M|NRXN2_uc001oao.2_Translation_Start_Site|NRXN2_uc001oaq.2_Missense_Mutation_p.L988M	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	275	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						GCCAGCGCCAGCACCTTGAGC	0.687													T	64390437	G	T	64390437	3	4	63	1	0	0	0	0	1	0	0	0	10666	962	34	5	1189	5	NRXN2	11	64390437	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	402501	64390437	70616079	1041	45774											
NRXN2	9379	broad.mit.edu	37	chr11	64397897	64397897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggtaccgctcgttgaccGgccagctgtccacctgcagg	13	16	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:64397897G>A	uc001oap.2	-	4	1107	c.596C>T	c.(595-597)CCG>CTG	p.P199L	NRXN2_uc001oar.2_Missense_Mutation_p.P1245L|NRXN2_uc001oas.2_Missense_Mutation_p.P1205L|NRXN2_uc001oaq.2_Missense_Mutation_p.P912L	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	199	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						CTCGTTGACCGGCCAGCTGTC	0.488													A	64397897	G	A	64397897	3	1	63	1	0	0	0	0	1	0	0	0	10666	1116	39	1	1424	1	NRXN2	11	64397897	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	7460	64397897	70608619	1042	45775											
SF1	7536	broad.mit.edu	37	chr11	64535117	64535117	+	Frame_Shift_Del	DEL	G	G	-													gtggtggtggctgcatccaaGggggtgggggtccattgggg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:64535117delG	uc001obb.1	-	10	1645	c.1268delC	c.(1267-1269)CCTfs	p.P423fs	SF1_uc010rnm.1_Frame_Shift_Del_p.P115fs|SF1_uc010rnn.1_Frame_Shift_Del_p.P397fs|SF1_uc001oaz.1_Frame_Shift_Del_p.P548fs|SF1_uc001oba.1_Frame_Shift_Del_p.P423fs|SF1_uc001obc.1_Frame_Shift_Del_p.P423fs|SF1_uc001obd.1_Frame_Shift_Del_p.P423fs|SF1_uc001obe.1_Frame_Shift_Del_p.P308fs|SF1_uc010rno.1_Frame_Shift_Del_p.P308fs	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	423	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3						CTGCATCCAAGGGGGTGGGGG	0.632											OREG0021062	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	64535117	G	-	64535117	7	5	63	1	0	1	0	1	0	0	0	0	14145	1000	35	0	805	0	SF1	11	64535117	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	137220	64535117	70471399	1043	45776											
SF1	7536	broad.mit.edu	37	chr11	64537456	64537457	+	Frame_Shift_Del	DEL	CA	CA	-													ctgggcccgatgagcagcccCacaaagttgatttctgggta							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:64537455_64537456CCA>C	uc001obb.2	-	4	911_912	c.459_460TGG>G	c.(457-462)gtggggfs	p.V153fs	SF1_uc010rnm.2_5'Flank|SF1_uc010rnn.2_Frame_Shift_Del_p.V127fs|SF1_uc001oaz.2_Frame_Shift_Del_p.V278fs|SF1_uc001oba.2_Frame_Shift_Del_p.V153fs|SF1_uc001obd.2_Frame_Shift_Del_p.V153fs|SF1_uc001obc.2_Frame_Shift_Del_p.V153fs|SF1_uc001obe.2_Frame_Shift_Del_p.V38fs|SF1_uc010rno.2_Frame_Shift_Del_p.V38fs	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	153	KH.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	RNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						ATGAGCAGCCCCACAAAGTTGA	0.47													-	64537457	CA	-	64537456	7	5	63	1	0	1	0	1	0	0	0	0	14145	581	21	0	1634	0	SF1	11	64537456	Frame_Shift_Del	DEL	CA	TCGA-BR-8078-01A-11D-2340-08	2339	64537456	70469060	1044	45777											
EHD1	10938	broad.mit.edu	37	chr11	64622217	64622217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcagggactcctcctgcCgcaccatcaccatcagccgc	8	19	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:64622217C>T	uc001obu.1	-	5	1448	c.1193G>A	c.(1192-1194)CGG>CAG	p.R398Q	EHD1_uc001obt.1_Missense_Mutation_p.R81Q|EHD1_uc001obv.1_Missense_Mutation_p.R398Q|EHD1_uc010rnq.1_Missense_Mutation_p.R412Q	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	398					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding				0						CTCCTCCTGCCGCACCATCAC	0.662													T	64622217	C	T	64622217	3	4	63	1	0	0	0	0	1	0	0	0	4977	652	23	1	415	1	EHD1	11	64622217	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	84761	64622217	70384299	1045	45778											
DPF2	5977	broad.mit.edu	37	chr11	65108459	65108459	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggcctccggacagctgtaCtcctaccctgcccggcgctg	11	17	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:65108459C>T	uc001odm.2	+	3	228	c.216C>T	c.(214-216)TAC>TAT	p.Y72Y	DPF2_uc001odn.2_Silent_p.Y72Y|DPF2_uc010roe.1_Silent_p.Y72Y	NM_006268	NP_006259	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	72					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						GACAGCTGTACTCCTACCCTG	0.507													T	65108459	C	T	65108459	2	4	63	1	0	0	0	0	0	0	0	1	4717	576	20	4		4	DPF2	11	65108459	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	486242	65108459	69898057	1046	45779											
SCYL1	57410	broad.mit.edu	37	chr11	65304600	65304601	+	Splice_Site	DEL	GT	GT	-													aagactggggcagcctggagGtgtgtggggctgagggagcc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:65304599_65304600GGT>G	uc001oea.1	+	14	2036	c.1959_splice	c.e14+1	p.E653_splice	SCYL1_uc009yqk.3_Splice_Site_p.E653_splice|SCYL1_uc001oeb.1_Splice_Site_p.E636_splice|SCYL1_uc001oec.1_Splice_Site_p.E653_splice|SCYL1_uc001oee.1_Splice_Site_p.E297_splice	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA.	653					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	COPI vesicle coat|ER-Golgi intermediate compartment|cis-Golgi network|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						GCAGCCTGGAGGTGTGTGGGGC	0.639													-	65304601	GT	-	65304600	8	5	63	1	0	1	0	1	0	0	1	0	13947	1275	44	0	2014	0	SCYL1	11	65304600	Splice_Site	DEL	GT	TCGA-BR-8078-01A-11D-2340-08	196141	65304600	69701916	1047	45780											
LTBP3	4054	broad.mit.edu	37	chr11	65308389	65308389	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatgttgttgtcctgggtgTagccctttccgtctgggcag	14	10	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:65308389T>C	uc001oej.2	-	21	3199	c.2930A>G	c.(2929-2931)TAC>TGC	p.Y977C	LTBP3_uc001oef.2_5'UTR|LTBP3_uc001oeg.2_5'UTR|LTBP3_uc001oeh.2_Missense_Mutation_p.Y407C|LTBP3_uc010roi.1_Missense_Mutation_p.Y860C|LTBP3_uc001oei.2_Missense_Mutation_p.Y977C|LTBP3_uc010roj.1_Missense_Mutation_p.Y678C|LTBP3_uc010rok.1_Missense_Mutation_p.Y888C	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	977						extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						GTCCTGGGTGTAGCCCTTTCC	0.701											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	65308389	T	C	65308389	3	2	63	1	0	0	0	0	1	0	0	0	9075	1638	57	3	1013	3	LTBP3	11	65308389	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	3789	65308389	69698127	1048	45781											
EHBP1L1	254102	broad.mit.edu	37	chr11	65350555	65350555	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaagaggttgggggttcAgaggttccagagatagcgac	17	5	1	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:65350555A>G	uc001oeo.3	+	9	2677	c.2412A>G	c.(2410-2412)TCA>TCG	p.S804S	EHBP1L1_uc001oep.1_Intron	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	804	Glu-rich.									central_nervous_system(1)	1						TTGGGGGTTCAGAGGTTCCAG	0.527													G	65350555	A	G	65350555	2	3	63	1	0	0	0	0	0	0	0	1	4976	175	7	3		3	EHBP1L1	11	65350555	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	42166	65350555	69655961	1049	45782											
FOSL1	8061	broad.mit.edu	37	chr11	65660374	65660374	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctcacaaagcgaggagggTtggagagccaagggggtcag	18	8	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:65660374T>C	uc001ogg.1	-	4	986	c.799A>G	c.(799-801)ACC>GCC	p.T267A	FOSL1_uc010ros.1_Missense_Mutation_p.T165A	NM_005438	NP_005429	P15407	FOSL1_HUMAN	FOS-like antigen 1	267					cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				READ - Rectum adenocarcinoma(159;0.168)		GCGAGGAGGGTTGGAGAGCCA	0.632													C	65660374	T	C	65660374	3	2	63	1	0	0	0	0	1	0	0	0	5987	1725	60	3	20	3	FOSL1	11	65660374	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	309819	65660374	69346142	1050	45783											
BRMS1	25855	broad.mit.edu	37	chr11	66108714	66108714	+	Frame_Shift_Del	DEL	C	C	-													atcttgaggctccgctgcagCcccccaaggggctccgtgta							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:66108713_66108713GC>G	uc001oho.1	-	3	469	c.322_322GC>C	c.(322-324)ctgfs	p.L108fs	BRMS1_uc001ohp.1_Frame_Shift_Del_p.L108fs|BRMS1_uc009yre.3_5'Flank	NM_001024957	NP_001020128	Q9HCU9	BRMS1_HUMAN	Homo sapiens breast cancer metastasis suppressor 1 (BRMS1), transcript variant 2, mRNA.	108					apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of anti-apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CTCCGCTGCAGCCCCCCAAGG	0.627													-	66108714	C	-	66108714	7	5	63	1	0	1	0	1	0	0	0	0	1516	726	26	0	591	0	BRMS1	11	66108714	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	448340	66108714	68897802	1051	45784											
ACTN3	89	broad.mit.edu	37	chr11	66329782	66329782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcttgcctcatctccatgGgctatgacctggtgagagct	12	11	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:66329782G>A	uc001oio.1	+	20	2395	c.2377G>A	c.(2377-2379)GGC>AGC	p.G793S	ACTN3_uc010rpi.1_RNA	NM_001104	NP_001095	Q08043	ACTN3_HUMAN	actinin, alpha 3	793	EF-hand 1.				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle				0						CATCTCCATGGGCTATGACCT	0.562													A	66329782	G	A	66329782	3	1	63	1	0	0	0	0	1	0	0	0	206	1232	43	4	2451	4	ACTN3	11	66329782	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	221068	66329782	68676734	1052	45785											
CARNS1	57571	broad.mit.edu	37	chr11	67191150	67191150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggcccaccctggcctgCgccctccctccatgctgtgc	9	21	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:67191150C>T	uc009yrp.2	+	9	2014	c.1562C>T	c.(1561-1563)GCG>GTG	p.A521V	PPP1CA_uc001okx.1_5'Flank|CARNS1_uc001olc.3_Missense_Mutation_p.A660V	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	ATP-grasp domain containing 1	521	ATP-grasp.				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding				0						CCCTGGCCTGCGCCCTCCCTC	0.657													T	67191150	C	T	67191150	3	4	63	1	0	0	0	0	1	0	0	0	2656	768	27	1	1965	1	CARNS1	11	67191150	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	861368	67191150	67815366	1053	45786											
TBX10	347853	broad.mit.edu	37	chr11	67402373	67402373	+	Frame_Shift_Del	DEL	G	G	-													cccaggatcttcacctggaaGggggggaacatcctcctgcg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:67402372_67402372AG>A	uc001omp.3	-	2	380	c.292_292CT>T	c.(292-294)ttcfs	p.F98fs		NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	98					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TTCACCTGGAAGGGGGGGAAC	0.677													-	67402373	G	-	67402373	7	5	63	1	0	1	0	1	0	0	0	0	15648	987	35	0	890	0	TBX10	11	67402373	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	211223	67402373	67604143	1054	45787											
ALDH3B1	221	broad.mit.edu	37	chr11	67789245	67789245	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccccaaacctgggccgcaTcatcaaccagaaacagttcc	6	17	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:67789245T>C	uc010rpy.1	+	8	970	c.854T>C	c.(853-855)ATC>ACC	p.I285T	ALDH3B1_uc001omz.2_Missense_Mutation_p.I285T|ALDH3B1_uc001ona.2_Missense_Mutation_p.I248T|ALDH3B1_uc001onb.2_RNA	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3B1 isoform a	285					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase				0					NADH(DB00157)	CTGGGCCGCATCATCAACCAG	0.632											OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	67789245	T	C	67789245	3	2	63	1	0	0	0	0	1	0	0	0	499	1435	50	3	875	3	ALDH3B1	11	67789245	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	386872	67789245	67217271	1055	45788											
MTL5	9633	broad.mit.edu	37	chr11	68517988	68517988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtacgcttctttgaagacGtggaactcgtcctcctcgta	10	11	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:68517988G>A	uc001ooc.2	-	2	281	c.141C>T	c.(139-141)CAC>CAT	p.H47H	MTL5_uc001ood.1_Silent_p.H47H|MTL5_uc009ysi.1_Silent_p.H47H|MTL5_uc001ooe.2_Silent_p.H47H	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific isoform	47					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			ovary(2)|breast(1)	3	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTTTGAAGACGTGGAACTCGT	0.647													A	68517988	G	A	68517988	2	1	63	1	0	0	0	0	0	0	0	1	9936	1136	40	1		1	MTL5	11	68517988	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	728743	68517988	66488528	1056	45789											
MYEOV	26579	broad.mit.edu	37	chr11	69063724	69063724	+	Frame_Shift_Del	DEL	G	G	-													gttgtgactgttgaggccctGggggggtggcgcatgggagt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:69063724delG	uc001oov.2	+	3	1257	c.807delG	c.(805-807)CTGfs	p.L269fs	MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Frame_Shift_Del_p.L269fs|MYEOV_uc001oow.2_Frame_Shift_Del_p.L211fs	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	269											0	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TTGAGGCCCTGGGGGGGTGGC	0.597													-	69063724	G	-	69063724	7	5	63	1	0	1	0	1	0	0	0	0	10025	1335	47	0	813	0	MYEOV	11	69063724	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	545736	69063724	65942792	1057	45790											
SHANK2	22941	broad.mit.edu	37	chr11	70338495	70338495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggccgctgcttgatggtcGccaccctcggttccacagcc	12	16	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:70338495G>A	uc001oqc.2	-	18	2462	c.2384C>T	c.(2383-2385)GCG>GTG	p.A795V	SHANK2_uc010rqn.1_Missense_Mutation_p.A207V|SHANK2_uc001opz.2_Missense_Mutation_p.A200V|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.A197V|SHANK2_uc001opy.2_5'UTR|SHANK2_uc010rqo.1_Missense_Mutation_p.A8V	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	416					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTTGATGGTCGCCACCCTCGG	0.647													A	70338495	G	A	70338495	3	1	63	1	0	0	0	0	1	0	0	0	14265	1087	38	1	3185	1	SHANK2	11	70338495	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1274771	70338495	64668021	1058	45791											
DHCR7	1717	broad.mit.edu	37	chr11	71146749	71146749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgccccagatgaggcagCgcccatccgtgcggcggaac	13	16	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:71146749C>T	uc001oqk.2	-	9	1350	c.1100G>A	c.(1099-1101)CGC>CAC	p.R367H	DHCR7_uc001oql.2_Missense_Mutation_p.R367H	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	367					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			ovary(1)|liver(1)	2					NADH(DB00157)	GATGAGGCAGCGCCCATCCGT	0.662									Smith-Lemli-Opitz_syndrome				T	71146749	C	T	71146749	3	4	63	1	0	0	0	0	1	0	0	0	4477	768	27	1	331	1	DHCR7	11	71146749	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	808254	71146749	63859767	1059	45792											
NUMA1	4926	broad.mit.edu	37	chr11	71726711	71726711	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatctccagcttggcagccTtctccttctccagtgcctcc	7	17	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:71726711T>G	uc001orl.1	-	15	2010	c.1838A>C	c.(1837-1839)AAG>ACG	p.K613T	NUMA1_uc009ysw.1_Missense_Mutation_p.K176T|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.K613T|NUMA1_uc001orn.2_Missense_Mutation_p.K176T|NUMA1_uc009ysx.1_Missense_Mutation_p.K613T|NUMA1_uc001oro.1_Missense_Mutation_p.K613T	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	613	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						CTTGGCAGCCTTCTCCTTCTC	0.617			T	RARA	APL								G	71726711	T	G	71726711	3	3	63	1	0	0	0	0	1	0	0	0	10750	1609	56	5	4561	5	NUMA1	11	71726711	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	579962	71726711	63279805	1060	45793											
INPPL1	3636	broad.mit.edu	37	chr11	71948748	71948748	+	Frame_Shift_Del	DEL	C	C	-													caggccccctggagctgcagCccccccggggactgccctcg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:71948748delC	uc001osf.2	+	26	3607	c.3460delC	c.(3460-3462)CCCfs	p.P1154fs	INPPL1_uc001osg.2_Frame_Shift_Del_p.P912fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1154					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						GGAGCTGCAGCCCCCCCGGGG	0.697													-	71948748	C	-	71948748	7	5	63	1	0	1	0	1	0	0	0	0	7761	739	26	0	3562	0	INPPL1	11	71948748	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	222037	71948748	63057768	1061	45794											
PDE2A	5138	broad.mit.edu	37	chr11	72295937	72295937	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcatccaccacgcccccGtcgaacaccttggccaccag	6	20	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:72295937G>A	uc010rrc.1	-	17	1581	c.1338C>T	c.(1336-1338)GAC>GAT	p.D446D	PDE2A_uc001oso.2_Silent_p.D425D|PDE2A_uc010rra.1_Silent_p.D439D|PDE2A_uc001osn.2_Silent_p.D190D|PDE2A_uc010rrb.1_Silent_p.D437D|PDE2A_uc010rrd.1_Silent_p.D331D	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	446	GAF 2.	cGMP (By similarity).			platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CCACGCCCCCGTCGAACACCT	0.652													A	72295937	G	A	72295937	2	1	63	1	0	0	0	0	0	0	0	1	11636	1136	40	1		1	PDE2A	11	72295937	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	347189	72295937	62710579	1062	45795											
PDE2A	5138	broad.mit.edu	37	chr11	72385209	72385209	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtcgcgctgccgggtactGctggctcctgcagaggatgg	17	12	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:72385209G>A	uc010rrc.1	-	1	286	c.43C>T	c.(43-45)CAG>TAG	p.Q15*	PDE2A_uc010rrd.1_Nonsense_Mutation_p.Q15*|PDE2A_uc001osq.2_RNA	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	15					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GCCGGGTACTGCTGGCTCCTG	0.677													A	72385209	G	A	72385209	4	1	63	1	0	0	0	0	0	1	0	0	11636	1328	46	2	3004	2	PDE2A	11	72385209	Nonsense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	89272	72385209	62621307	1063	45796											
ATG16L2	89849	broad.mit.edu	37	chr11	72535842	72535843	+	Frame_Shift_Ins	INS	-	-	TG													agcgataccagatcatccctINSgtgtgtgtggctgcccgact							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:72535841_72535842C>CTG	uc001otd.3	+	8	990_991	c.950_951C>CTG	c.(949-951)cctfs	p.P317fs	ATG16L2_uc010rrf.1_3'UTR|ATG16L2_uc001ote.3_Frame_Shift_Ins_p.P211fs|ATG16L2_uc009ytj.2_Intron	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA.	317					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			CAGATCATCCCTGTGTGTGTGG	0.594													TG	72535843	-	TG	72535842	7	5	63	1	0	1	1	0	0	0	0	0	1092	1567	55	0	985	0	ATG16L2	11	72535842	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	150633	72535842	62470674	1064	45797											
ARHGEF17	9828	broad.mit.edu	37	chr11	73020660	73020660	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcaggggtttctgggaGccctgagcccccaacatctc	11	15	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:73020660G>T	uc001otu.2	+	1	998	c.977G>T	c.(976-978)AGC>ATC	p.S326I		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	326					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						GTTTCTGGGAGCCCTGAGCCC	0.607													T	73020660	G	T	73020660	3	4	63	1	0	0	0	0	1	0	0	0	900	971	34	5	979	5	ARHGEF17	11	73020660	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	484818	73020660	61985856	1065	45798											
ARHGEF17	9828	broad.mit.edu	37	chr11	73021304	73021304	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcaaggacttgacagccactCtgcggagagcaaagtcattc	10	11	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:73021304C>A	uc001otu.2	+	1	1642	c.1621C>A	c.(1621-1623)CTG>ATG	p.L541M		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	541					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						GACAGCCACTCTGCGGAGAGC	0.637													A	73021304	C	A	73021304	3	1	63	1	0	0	0	0	1	0	0	0	900	912	32	5	1623	5	ARHGEF17	11	73021304	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	644	73021304	61985212	1066	45799											
RELT	84957	broad.mit.edu	37	chr11	73101832	73101832	+	Frame_Shift_Del	DEL	C	C	-													ggcacattatgcaggccctgCcccccaggcaccttctcagc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:73101832delC	uc001otv.2	+	4	318	c.153delC	c.(151-153)TGCfs	p.C51fs	RELT_uc001otw.2_Frame_Shift_Del_p.C51fs|RELT_uc009yto.1_5'UTR|RELT_uc001otx.2_5'Flank	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor precursor	51	TNFR-Cys.|Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			upper_aerodigestive_tract(1)	1						GCAGGCCCTGCCCCCCAGGCA	0.667													-	73101832	C	-	73101832	7	5	63	1	0	1	0	1	0	0	0	0	13221	747	26	0	163	0	RELT	11	73101832	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	80528	73101832	61904684	1067	45800											
CAPN5	726	broad.mit.edu	37	chr11	76831837	76831837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacatcaactcacgcagcGtcttcctgcgcaccgaccag	7	17	4	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:76831837G>A	uc001oxx.2	+	10	1554	c.1369G>A	c.(1369-1371)GTC>ATC	p.V457I	CAPN5_uc009yup.2_Missense_Mutation_p.V497I|CAPN5_uc009yuq.2_Missense_Mutation_p.V493I|CAPN5_uc001oxy.2_Missense_Mutation_p.V497I|CAPN5_uc001oya.2_Missense_Mutation_p.V19I	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	457	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0						CTCACGCAGCGTCTTCCTGCG	0.637													A	76831837	G	A	76831837	3	1	63	1	0	0	0	0	1	0	0	0	2629	1145	40	1	1403	1	CAPN5	11	76831837	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3730005	76831837	58174679	1068	45801											
EED	8726	broad.mit.edu	37	chr11	85977144	85977144	+	Frame_Shift_Del	DEL	A	A	-													ggattatgatcttttgggtgAaaaaataatgtcctgtggta							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:85977143_85977143GA>G	uc001pbp.3	+	7	1211	c.745_745GA>G	c.(745-747)gaafs	p.E249fs	EED_uc010rtm.2_Frame_Shift_Del_p.E249fs|EED_uc001pbq.3_Frame_Shift_Del_p.E249fs|EED_uc001pbr.3_Frame_Shift_Del_p.E249fs|EED_uc010rtn.1_Non-coding_Transcript	NM_003797	NP_003788	O75530	EED_HUMAN	Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA.	249	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TCTTTTGGGTGAAAAAATAAT	0.294													-	85977144	A	-	85977144	7	5	63	1	0	1	0	1	0	0	0	0	4922	246	9	0	776	0	EED	11	85977144	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	9145307	85977144	49029372	1069	45802											
FZD4	8322	broad.mit.edu	37	chr11	86662525	86662525	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctaacttgtctgtctttgTcccatccttttgaagatttg	6	9	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:86662525T>C	uc001pce.2	-	2	1579	c.1273A>G	c.(1273-1275)ACA>GCA	p.T425A	PRSS23_uc001pcc.1_RNA	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	frizzled 4 precursor	425	Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCTGTCTTTGTCCCATCCTTT	0.423													C	86662525	T	C	86662525	3	2	63	1	0	0	0	0	1	0	0	0	6132	1667	58	3	344	3	FZD4	11	86662525	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	685381	86662525	48343991	1070	45803											
TMEM135	65084	broad.mit.edu	37	chr11	87029231	87029231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttccctattttcctcatgCagatactatcatctattcca	4	12	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:87029231C>T	uc001pch.2	+	13	1153	c.1130C>T	c.(1129-1131)GCA>GTA	p.A377V	TMEM135_uc010rtt.1_Missense_Mutation_p.A238V|TMEM135_uc001pci.2_Missense_Mutation_p.A355V	NM_022918	NP_075069	Q86UB9	TM135_HUMAN	transmembrane protein 135	377						integral to membrane					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTTCCTCATGCAGATACTATC	0.353													T	87029231	C	T	87029231	3	4	63	1	0	0	0	0	1	0	0	0	16048	710	25	2	1180	2	TMEM135	11	87029231	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	366706	87029231	47977285	1071	45804											
CTSC	1075	broad.mit.edu	37	chr11	88068108	88068108	+	Frame_Shift_Del	DEL	A	A	-													cttccaacaaaactaaccttAaaaaaggcaaaccacttgta							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:88068107_88068107TA>T	uc001pck.4	-	1	417	c.316_316TA>A	c.(316-318)aagfs	p.K106fs	CTSC_uc001pcl.4_5'UTR|CTSC_uc001pcm.4_Frame_Shift_Del_p.K106fs|CTSC_uc001pcn.4_Frame_Shift_Del_p.K106fs	NM_001814	NP_001805	P53634	CATC_HUMAN	Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA.	106					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAACTAACCTTAAAAAAGGCA	0.338													-	88068108	A	-	88068108	7	5	63	1	0	1	0	1	0	0	0	0	4031	359	13	0	1231	0	CTSC	11	88068108	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	1038877	88068108	46938408	1072	45805											
FAT3	120114	broad.mit.edu	37	chr11	92531574	92531574	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ataacagcccactggtgattCgagccacagatgctgacagc	10	12	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:92531574C>A	uc001pdj.3	+	9	5412	c.5395C>A	c.(5395-5397)CGA>AGA	p.R1799R		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1799	Cadherin 16.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTGGTGATTCGAGCCACAGA	0.483										TCGA Ovarian(4;0.039)			A	92531574	C	A	92531574	2	1	63	1	0	0	0	0	0	0	0	1	5691	876	31	5		5	FAT3	11	92531574	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4463466	92531574	42474942	1073	45806											
FAT3	120114	broad.mit.edu	37	chr11	92577235	92577235	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaggatgactttcctggtGgggtcattgggaagattcat	15	5	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:92577235G>T	uc001pdj.3	+	18	10719	c.10702G>T	c.(10702-10704)GGG>TGG	p.G3568W	FAT3_uc001pdi.3_Missense_Mutation_p.G8W	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3568	Cadherin 33.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTTTCCTGGTGGGGTCATTGG	0.468										TCGA Ovarian(4;0.039)			T	92577235	G	T	92577235	3	4	63	1	0	0	0	0	1	0	0	0	5691	1348	47	5	10772	5	FAT3	11	92577235	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	45661	92577235	42429281	1074	45807											
FAT3	120114	broad.mit.edu	37	chr11	92623907	92623907	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagaccaatatgaggccctGccaccctcccagcctgtctc	7	19	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:92623907G>T	uc001pdj.3	+	25	13319	c.13302G>T	c.(13300-13302)CTG>CTT	p.L4434L	FAT3_uc001pdi.3_Silent_p.L906L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4466	Pro-rich.|Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGAGGCCCTGCCACCCTCCC	0.592										TCGA Ovarian(4;0.039)			T	92623907	G	T	92623907	2	4	63	1	0	0	0	0	0	0	0	1	5691	1306	46	5		5	FAT3	11	92623907	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	46672	92623907	42382609	1075	45808											
KIAA1377	57562	broad.mit.edu	37	chr11	101833648	101833648	+	Frame_Shift_Del	DEL	A	A	-													cagaaattccaaagaccattAaaaaactgaggtggtttgat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:101833647_101833647TA>T	uc001pgm.3	+	5	2151	c.1881_1881TA>T	c.(1879-1881)attfs	p.I627fs	KIAA1377_uc001pgn.3_Frame_Shift_Del_p.I583fs|KIAA1377_uc010run.2_Frame_Shift_Del_p.I428fs|KIAA1377_uc009yxa.1_Frame_Shift_Del_p.I428fs	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	627							protein binding	p.T626A(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CAAAGACCATTAAAAAACTGA	0.328													-	101833648	A	-	101833648	7	5	63	1	0	1	0	1	0	0	0	0	8227	363	13	0	1904	0	KIAA1377	11	101833648	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	9209741	101833648	33172868	1076	45809											
BIRC3	330	broad.mit.edu	37	chr11	102195543	102195543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgttcagagtctaaattcCgttaacaacttggaagctac	7	9	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:102195543C>T	uc001pgx.2	+	3	525	c.303C>T	c.(301-303)TCC>TCT	p.S101S		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	baculoviral IAP repeat-containing protein 3	101					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|skin(1)	4	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		GTCTAAATTCCGTTAACAACT	0.418			T	MALT1	MALT								T	102195543	C	T	102195543	2	4	63	1	0	0	0	0	0	0	0	1	1436	639	23	1		1	BIRC3	11	102195543	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	361895	102195543	32810973	1077	45810											
MMP3	4314	broad.mit.edu	37	chr11	102713563	102713563	+	Frame_Shift_Del	DEL	T	T	-													gaacttctgcatttctcggaTttttttaacaacaggaccac							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:102713562_102713562AT>A	uc001phj.1	-	1	256	c.191_191AT>T	c.(190-192)atcfs	p.I64fs		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	64					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CATTTCTCGGATTTTTTTAAC	0.438													-	102713563	T	-	102713563	7	5	63	1	0	1	0	1	0	0	0	0	9666	1493	52	0	1279	0	MMP3	11	102713563	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	518020	102713563	32292953	1078	45811											
MMP12	4321	broad.mit.edu	37	chr11	102736573	102736573	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggttaaaaacagctgcatcaAtttttttcacaaagttagga	7	6	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:102736573A>T	uc001phk.2	-	9	1184	c.1139T>A	c.(1138-1140)ATT>AAT	p.I380N		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	380	Hemopexin-like 3.				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGCTGCATCAATTTTTTTCAC	0.363													T	102736573	A	T	102736573	3	4	63	1	0	0	0	0	1	0	0	0	9651	101	4	5	285	5	MMP12	11	102736573	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	23010	102736573	32269943	1079	45812											
DDI1	414301	broad.mit.edu	37	chr11	103908557	103908557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaggcctagatatgctccGgagacatcaatgttccatcg	9	11	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:103908557G>A	uc001phr.2	+	1	1250	c.1007G>A	c.(1006-1008)CGG>CAG	p.R336Q	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	336					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GATATGCTCCGGAGACATCAA	0.448													A	103908557	G	A	103908557	3	1	63	1	0	0	0	0	1	0	0	0	4328	1116	39	1	1009	1	DDI1	11	103908557	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1171984	103908557	31097959	1080	45813											
CASP4	837	broad.mit.edu	37	chr11	104820375	104820375	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcataaagcagcacatctgGttttttctcatcatgcacag	7	10	4	0	rs138280041		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:104820375G>T	uc001pid.1	-	5	749	c.676C>A	c.(676-678)CCA>ACA	p.P226T	CASP4_uc001pib.1_Missense_Mutation_p.P170T|CASP4_uc009yxg.1_Missense_Mutation_p.P135T|CASP4_uc010rux.1_Missense_Mutation_p.P226T	NM_001225	NP_001216	P49662	CASP4_HUMAN	caspase 4 isoform alpha precursor	226					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			lung(2)|ovary(1)|skin(1)	4		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		AGCACATCTGGTTTTTTCTCA	0.488													T	104820375	G	T	104820375	3	4	63	1	0	0	0	0	1	0	0	0	2673	1261	44	5	473	5	CASP4	11	104820375	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	911818	104820375	30186141	1081	45814											
CASP4	837	broad.mit.edu	37	chr11	104825608	104825608	+	Frame_Shift_Del	DEL	T	T	-													ttttagcatcgtaatatttcTttttttcctcttccttccag							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:104825607_104825607CT>C	uc001pid.1	-	1	202	c.129_129AG>G	c.(127-129)aagfs	p.K43fs	CASP4_uc001pib.1_5'UTR|CASP4_uc009yxg.1_5'UTR|CASP4_uc010rux.1_Frame_Shift_Del_p.K43fs|CASP4_uc010ruy.1_Frame_Shift_Del_p.K43fs	NM_001225	NP_150649	P49662	CASP4_HUMAN	Homo sapiens caspase 4, apoptosis-related cysteine peptidase (CASP4), transcript variant alpha, mRNA.	43	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	p.K43N(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CGTAATATTTCTTTTTTTCCT	0.408													-	104825608	T	-	104825608	7	5	63	1	0	1	0	1	0	0	0	0	2673	1609	56	0	1033	0	CASP4	11	104825608	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	5233	104825608	30180908	1082	45815											
CWF19L2	143884	broad.mit.edu	37	chr11	107299560	107299560	+	Frame_Shift_Del	DEL	T	T	-													tttgtatcccgtagatgttcTttttttggagggtcatctct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:107299559_107299559CT>C	uc010rvp.2	-	7	1429	c.1399_1399AG>G	c.(1399-1401)gaafs	p.E467fs	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	467							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CGTAGATGTTCTTTTTTTGGA	0.363													-	107299560	T	-	107299560	7	5	63	1	0	1	0	1	0	0	0	0	4072	1606	56	0	1330	0	CWF19L2	11	107299560	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	2473952	107299560	27706956	1083	45816											
ALG9	79796	broad.mit.edu	37	chr11	111657215	111657215	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actgatctgacaggaaggggAcatagaatgcccgcagcagc	13	10	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:111657215A>T	uc001pmb.2	-	16	1841	c.1742T>A	c.(1741-1743)GTC>GAC	p.V581D	ALG9_uc001ply.2_Missense_Mutation_p.V410D|ALG9_uc001plz.2_Missense_Mutation_p.V417D|ALG9_uc010rwm.1_Missense_Mutation_p.V588D|ALG9_uc010rwn.1_3'UTR|ALG9_uc010rwo.1_Missense_Mutation_p.V409D	NM_001077690	NP_001071158	Q9H6U8	ALG9_HUMAN	asparagine-linked glycosylation 9 protein	581	Lumenal (Potential).				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			large_intestine(1)|ovary(1)	2		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		CAGGAAGGGGACATAGAATGC	0.393													T	111657215	A	T	111657215	3	4	63	1	0	0	0	0	1	0	0	0	524	275	10	5	97	5	ALG9	11	111657215	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	4357655	111657215	23349301	1084	45817											
BCO2	83875	broad.mit.edu	37	chr11	112064312	112064312	+	Frame_Shift_Del	DEL	A	A	-													catataaggccaacagtgctAaaaaccgaattgtgatctca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:112064311_112064311TA>T	uc001pnf.3	+	2	525	c.408_408TA>T	c.(406-408)gctfs	p.A136fs	BCO2_uc001pne.1_5'UTR|BCO2_uc001png.3_Frame_Shift_Del_p.A136fs|BCO2_uc001pnh.3_Frame_Shift_Del_p.A102fs|BCO2_uc010rwt.2_Frame_Shift_Del_p.A31fs|BCO2_uc009yyn.3_Frame_Shift_Del_p.A102fs|BCO2_uc001pni.3_Frame_Shift_Del_p.A102fs	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	136					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						CCAACAGTGCTAAAAACCGAA	0.463													-	112064312	A	-	112064312	7	5	63	1	0	1	0	1	0	0	0	0	1385	363	13	0	419	0	BCO2	11	112064312	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	407097	112064312	22942204	1085	45818											
TTC12	54970	broad.mit.edu	37	chr11	113230172	113230172	+	Frame_Shift_Del	DEL	T	T	-													acctgtgtcttcaggctcccTttgtctctgaggtatggcat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:113230172delT	uc001pnu.2	+	17	1639	c.1534delT	c.(1534-1536)TTTfs	p.F512fs	TTC12_uc001pnv.2_Frame_Shift_Del_p.F518fs|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Frame_Shift_Del_p.F362fs	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	512							binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TCAGGCTCCCTTTGTCTCTGA	0.502													-	113230172	T	-	113230172	7	5	63	1	0	1	0	1	0	0	0	0	16676	1609	56	0	1596	0	TTC12	11	113230172	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	1165860	113230172	21776344	1086	45819											
HTR3A	3359	broad.mit.edu	37	chr11	113860304	113860304	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggcggtgtgtgggctgcTgcaggagctgtcctccatcc	16	12	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:113860304T>C	uc010rxb.1	+	8	1603	c.1370T>C	c.(1369-1371)CTG>CCG	p.L457P	HTR3A_uc010rxa.1_Missense_Mutation_p.L425P|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.L404P	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	419	HA-stretch.|Cytoplasmic (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TGTGGGCTGCTGCAGGAGCTG	0.657													C	113860304	T	C	113860304	3	2	63	1	0	0	0	0	1	0	0	0	7444	1580	55	3	1426	3	HTR3A	11	113860304	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	630132	113860304	21146212	1087	45820											
ZNF259	8882	broad.mit.edu	37	chr11	116658284	116658284	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtgttgttccagccacAgtgctcgcaggaaaaggagc	12	12	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:116658284A>C	uc001ppp.2	-	2	280	c.247T>G	c.(247-249)TGT>GGT	p.C83G	ZNF259_uc009yzd.2_Missense_Mutation_p.C83G|ZNF259_uc001ppq.2_Intron	NM_003904	NP_003895	O75312	ZPR1_HUMAN	zinc finger protein 259	83	C4-type 1.				cell proliferation|signal transduction	cytoplasm|nucleolus					0	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TTCCAGCCACAGTGCTCGCAG	0.547													C	116658284	A	C	116658284	3	2	63	1	0	0	0	0	1	0	0	0	17798	188	7	5	1184	5	ZNF259	11	116658284	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	2797980	116658284	18348232	1088	45821											
BACE1	23621	broad.mit.edu	37	chr11	117167623	117167623	+	Frame_Shift_Del	DEL	G	G	-													gtagcgatgcaggaaggggtGgggggcagcacccactgcaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:117167622_117167622TG>T	uc001pqz.3	-	1	778	c.317_317CA>A	c.(316-318)cacfs	p.H106fs	BACE1_uc001pqw.3_Frame_Shift_Del_p.H106fs|BACE1_uc001pqx.3_Frame_Shift_Del_p.H106fs|BACE1_uc001pqy.3_Frame_Shift_Del_p.H106fs|BACE1_uc001pra.1_Frame_Shift_Del_p.H106fs|BACE1_uc010rxg.2_5'Flank|BACE1_uc010rxh.2_5'Flank	NM_012104	NP_036236	P56817	BACE1_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 1 (BACE1), transcript variant a, mRNA.	106					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CAGGAAGGGGTGGGGGGCAGC	0.567													-	117167623	G	-	117167623	7	5	63	1	0	1	0	1	0	0	0	0	1281	1348	47	0	1221	0	BACE1	11	117167623	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	509339	117167623	17838893	1089	45822											
TMPRSS13	84000	broad.mit.edu	37	chr11	117789464	117789464	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctgggctggagatgcctgGgctggagatgcccggcctgg	19	11	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:117789464G>T	uc001prs.1	-	2	204	c.111C>A	c.(109-111)GCC>GCA	p.A37A	TMPRSS13_uc009yzr.1_5'UTR|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Silent_p.A37A	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	37	1-4.|4 X 5 AA repeats of T-P-P-G-R.|12 X 5 AA repeats of A-S-P-A-[GLQR].|Cytoplasmic (Potential).|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			pancreas(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GAGATGCCTGGGCTGGAGATG	0.637													T	117789464	G	T	117789464	2	4	63	1	0	0	0	0	0	0	0	1	16242	1219	43	5		5	TMPRSS13	11	117789464	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	621841	117789464	17217052	1090	45823											
BCL9L	283149	broad.mit.edu	37	chr11	118773127	118773127	+	Frame_Shift_Del	DEL	C	C	-													ggggggcttgtgctggtgggCccccctcacccgctcctcct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:118773127delC	uc001pug.2	-	6	2290	c.1325delG	c.(1324-1326)GGCfs	p.G442fs	BCL9L_uc009zal.2_Frame_Shift_Del_p.G437fs	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	442	Pro-rich.|Necessary for interaction with CTNNB1 (By similarity).				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGCTGGTGGGCCCCCCTCACC	0.667													-	118773127	C	-	118773127	7	5	63	1	0	1	0	1	0	0	0	0	1382	739	26	0	3186	0	BCL9L	11	118773127	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	983663	118773127	16233389	1091	45824											
NLRX1	79671	broad.mit.edu	37	chr11	119050611	119050611	+	Frame_Shift_Del	DEL	G	G	-													gagctcttccccatgttcatGggggggcttctctctgccca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:119050610_119050610TG>T	uc001pvu.3	+	6	2095	c.1880_1880TG>T	c.(1879-1881)atgfs	p.M627fs	NLRX1_uc010rzc.1_Frame_Shift_Del_p.M449fs|NLRX1_uc001pvv.3_Frame_Shift_Del_p.M627fs|NLRX1_uc001pvw.3_Frame_Shift_Del_p.M627fs|NLRX1_uc001pvx.3_Frame_Shift_Del_p.M627fs	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	627	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCATGTTCATGGGGGGGCTT	0.627													-	119050611	G	-	119050611	7	5	63	1	0	1	0	1	0	0	0	0	10485	1348	47	0	1903	0	NLRX1	11	119050611	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	277484	119050611	15955905	1092	45825											
TRIM29	23650	broad.mit.edu	37	chr11	119993751	119993751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgtagttgttcacatagCgatggtcaccacctaggaag	11	9	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:119993751C>T	uc001pwz.2	-	5	1470	c.1346G>A	c.(1345-1347)CGC>CAC	p.R449H	TRIM29_uc001pwx.2_5'Flank|TRIM29_uc001pwy.2_5'UTR|TRIM29_uc010rzi.1_Missense_Mutation_p.R188H|TRIM29_uc010rzj.1_Missense_Mutation_p.R182H|TRIM29_uc001pxa.2_RNA	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	449					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GTTCACATAGCGATGGTCACC	0.572													T	119993751	C	T	119993751	3	4	63	1	0	0	0	0	1	0	0	0	16500	768	27	1	440	1	TRIM29	11	119993751	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	943140	119993751	15012765	1093	45826											
TRIM29	23650	broad.mit.edu	37	chr11	119996467	119996467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacatcttctcaacgtggCgcatgcatacattgagcagg	10	11	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:119996467C>T	uc001pwz.2	-	4	1389	c.1265G>A	c.(1264-1266)CGC>CAC	p.R422H	TRIM29_uc001pwy.2_5'Flank|TRIM29_uc010rzi.1_Missense_Mutation_p.R161H|TRIM29_uc010rzj.1_Missense_Mutation_p.R155H|TRIM29_uc001pxa.2_RNA	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	422					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CTCAACGTGGCGCATGCATAC	0.602													T	119996467	C	T	119996467	3	4	63	1	0	0	0	0	1	0	0	0	16500	768	27	1	525	1	TRIM29	11	119996467	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2716	119996467	15010049	1094	45827											
TRIM29	23650	broad.mit.edu	37	chr11	120008538	120008538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattgcccgcgaacagggCgctcctaccttcccctggct	9	18	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:120008538C>T	uc001pwz.2	-	1	326	c.202G>A	c.(202-204)GCC>ACC	p.A68T	TRIM29_uc001pxa.2_RNA	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	68					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GCGAACAGGGCGCTCCTACCT	0.632													T	120008538	C	T	120008538	3	4	63	1	0	0	0	0	1	0	0	0	16500	768	27	1	1600	1	TRIM29	11	120008538	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	12071	120008538	14997978	1095	45828											
TRIM29	23650	broad.mit.edu	37	chr11	120008669	120008669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccaggctgccactggggCccgacgggctccgggcatcc	14	17	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:120008669C>T	uc001pwz.2	-	1	195	c.71G>A	c.(70-72)GGC>GAC	p.G24D	TRIM29_uc001pxa.2_RNA	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	24					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GCCACTGGGGCCCGACGGGCT	0.672													T	120008669	C	T	120008669	3	4	63	1	0	0	0	0	1	0	0	0	16500	739	26	2	1731	2	TRIM29	11	120008669	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	131	120008669	14997847	1096	45829											
TECTA	7007	broad.mit.edu	37	chr11	121038848	121038848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatcaccagggaccgcaCgatcaatgtggaattttcat	8	11	4	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:121038848C>T	uc010rzo.1	+	18	5672	c.5672C>T	c.(5671-5673)ACG>ATG	p.T1891M		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1891	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGGGACCGCACGATCAATGTG	0.473													T	121038848	C	T	121038848	3	4	63	1	0	0	0	0	1	0	0	0	15744	536	19	1	5742	1	TECTA	11	121038848	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1030179	121038848	13967668	1097	45830											
SORL1	6653	broad.mit.edu	37	chr11	121495927	121495927	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccgtccaagcaagatgccTttttggcaaccagatctgtg	9	12	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:121495927T>C	uc001pxx.2	+	46	6385	c.6305T>C	c.(6304-6306)CTT>CCT	p.L2102P	SORL1_uc010rzp.1_Missense_Mutation_p.L948P|SORL1_uc010rzq.1_Missense_Mutation_p.L717P	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	2102	Extracellular (Potential).|Fibronectin type-III 6.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCAAGATGCCTTTTTGGCAAC	0.468													C	121495927	T	C	121495927	3	2	63	1	0	0	0	0	1	0	0	0	14934	1609	56	3	6487	3	SORL1	11	121495927	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	457079	121495927	13510589	1098	45831											
BSX	390259	broad.mit.edu	37	chr11	122848477	122848477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcctcggcggcggtggcGgcctctgaaccgcgggggct	19	14	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:122848477G>A	uc010rzs.1	-	3	582	c.582C>T	c.(580-582)GCC>GCT	p.A194A		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	brain specific homeobox	194											0		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CGGCGGTGGCGGCCTCTGAAC	0.667													A	122848477	G	A	122848477	2	1	63	1	0	0	0	0	0	0	0	1	1535	1103	39	1		1	BSX	11	122848477	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1352550	122848477	12158039	1099	45832											
GRAMD1B	57476	broad.mit.edu	37	chr11	123484322	123484322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgatgagcccggtcaccaCgcccacagatgaggatgtgg	15	11	1	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:123484322C>T	uc001pyx.2	+	15	2083	c.1754C>T	c.(1753-1755)ACG>ATG	p.T585M	GRAMD1B_uc001pyw.2_Missense_Mutation_p.T592M|GRAMD1B_uc010rzw.1_Missense_Mutation_p.T545M|GRAMD1B_uc010rzx.1_Missense_Mutation_p.T545M|GRAMD1B_uc001pyy.2_Missense_Mutation_p.T276M	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	585						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CCGGTCACCACGCCCACAGAT	0.607													T	123484322	C	T	123484322	3	4	63	1	0	0	0	0	1	0	0	0	6748	536	19	1	1812	1	GRAMD1B	11	123484322	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	635845	123484322	11522194	1100	45833											
OR8B12	219858	broad.mit.edu	37	chr11	124413368	124413368	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attaaagagaggttaaaaagGaagaagtacatgggagtgtg	14	1	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:124413368G>A	uc010sam.1	-	1	183	c.183C>T	c.(181-183)TTC>TTT	p.F61F		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	61	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GGTTAAAAAGGAAGAAGTACA	0.453													A	124413368	G	A	124413368	2	1	63	1	0	0	0	0	0	0	0	1	11226	1165	41	4		4	OR8B12	11	124413368	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	929046	124413368	10593148	1101	45834											
PUS3	83480	broad.mit.edu	37	chr11	125763900	125763900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgaggggcttatatgtgCgcatcttcactccttctaca	8	12	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:125763900C>T	uc001qcy.2	-	4	1324	c.1226G>A	c.(1225-1227)CGC>CAC	p.R409H	HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	409						nucleus	RNA binding			ovary(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		CTTATATGTGCGCATCTTCAC	0.473													T	125763900	C	T	125763900	3	4	63	1	0	0	0	0	1	0	0	0	12832	768	27	1	223	1	PUS3	11	125763900	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1350532	125763900	9242616	1102	45835											
KCNJ5	3762	broad.mit.edu	37	chr11	128786370	128786370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggccaccgattcacacCagtcctcaccttggaaaagg	10	14	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:128786370C>T	uc001qet.2	+	3	1318	c.1004C>T	c.(1003-1005)CCA>CTA	p.P335L	KCNJ5_uc009zck.2_Missense_Mutation_p.P335L|KCNJ5_uc001qew.2_Missense_Mutation_p.P335L	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	335	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CGATTCACACCAGTCCTCACC	0.537													T	128786370	C	T	128786370	3	4	63	1	0	0	0	0	1	0	0	0	8054	594	21	4	1010	4	KCNJ5	11	128786370	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3022470	128786370	6220146	1103	45836											
OPCML	4978	broad.mit.edu	37	chr11	132306587	132306587	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaccactggaattcagccaTggggactgcagaggcttcac	12	11	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:132306587T>C	uc001qgs.2	-	5	801	c.751A>G	c.(751-753)ATG>GTG	p.M251V	OPCML_uc001qgu.2_Missense_Mutation_p.M244V|OPCML_uc010sck.1_Missense_Mutation_p.M251V|OPCML_uc001qgt.2_Missense_Mutation_p.M250V|OPCML_uc010scl.1_Missense_Mutation_p.M210V	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	251	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		AATTCAGCCATGGGGACTGCA	0.483													C	132306587	T	C	132306587	3	2	63	1	0	0	0	0	1	0	0	0	10874	1464	51	3	298	3	OPCML	11	132306587	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	3520217	132306587	2699929	1104	45837											
JAM3	83700	broad.mit.edu	37	chr11	134019044	134019044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtgttggctttgcagggcGacttcagacacaagtcatcg	13	9	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:134019044G>A	uc001qhb.1	+	9	1060	c.1036G>A	c.(1036-1038)GAC>AAC	p.D346N	JAM3_uc009zcz.1_Missense_Mutation_p.D295N	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3 precursor	301	Cytoplasmic (Potential).				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TTTGCAGGGCGACTTCAGACA	0.522													A	134019044	G	A	134019044	3	1	63	1	0	0	0	0	1	0	0	0	7944	1058	37	1	1070	1	JAM3	11	134019044	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1712457	134019044	987472	1105	45838											
GLB1L3	112937	broad.mit.edu	37	chr11	134179653	134179653	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactcgggcattgtcaccagCtatggcaagtgtcgctggtg	13	11	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:134179653C>A	uc009zdf.2	+	11	1455	c.1095C>A	c.(1093-1095)AGC>AGA	p.S365R	GLB1L3_uc010scu.1_Missense_Mutation_p.S66R|GLB1L3_uc001qho.3_RNA	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1 like 3	365					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TTGTCACCAGCTATGGCAAGT	0.527													A	134179653	C	A	134179653	3	1	63	1	0	0	0	0	1	0	0	0	6430	796	28	5	1137	5	GLB1L3	11	134179653	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	160609	134179653	826863	1106	45839											
WNK1	65125	broad.mit.edu	37	chr12	1009685	1009685	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcagtcttgcacccccaGcagaccctccaccctcctgg	7	20	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:1009685G>A	uc001qio.3	+	26	6999	c.6492G>A	c.(6490-6492)CAG>CAA	p.Q2164Q	WNK1_uc001qip.3_Silent_p.Q1916Q|WNK1_uc001qir.3_Silent_p.Q1337Q|WNK1_uc009zdm.1_RNA|WNK1_uc009zdn.1_RNA|uc009zdo.1_5'Flank	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2164					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TGCACCCCCAGCAGACCCTCC	0.542													A	1009685	G	A	1009685	2	1	63	1	0	0	0	0	0	0	0	1	17374	962	34	2		2	WNK1	12	1009685	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08		1009685	132842210	1107	45840											
FGF23	8074	broad.mit.edu	37	chr12	4479894	4479894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggagagtggtagacgtcgTacccgttttccagcgtctgg	15	9	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:4479894T>C	uc001qmq.1	-	3	517	c.371A>G	c.(370-372)TAC>TGC	p.Y124C		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23 precursor	124					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			ovary(2)|breast(1)|skin(1)	4			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GTAGACGTCGTACCCGTTTTC	0.597													C	4479894	T	C	4479894	3	2	63	1	0	0	0	0	1	0	0	0	5852	1638	57	3	388	3	FGF23	12	4479894	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	3470209	4479894	129372001	1108	45841											
DYRK4	8798	broad.mit.edu	37	chr12	4705421	4705421	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacaaaaacaatgagctggTggccctgaaaatcatcagga	9	9	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:4705421T>C	uc001qmx.2	+	5	549	c.389T>C	c.(388-390)GTG>GCG	p.V130A	DYRK4_uc009zeh.1_Missense_Mutation_p.V245A|DYRK4_uc001qmy.1_Missense_Mutation_p.V130A	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	130	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)|skin(1)	3			Colorectal(7;0.103)			AATGAGCTGGTGGCCCTGAAA	0.537													C	4705421	T	C	4705421	3	2	63	1	0	0	0	0	1	0	0	0	4858	1696	59	3	399	3	DYRK4	12	4705421	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	225527	4705421	129146474	1109	45842											
DYRK4	8798	broad.mit.edu	37	chr12	4719362	4719362	+	Frame_Shift_Del	DEL	A	A	-													atataaccaacaacagggggAaaaaaagatacccagattcc					rs80196697		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:4719361_4719361GA>G	uc009zeh.1	+	12	1443	c.1401_1401GA>G	c.(1399-1401)gggfs	p.G467fs	DYRK4_uc001qmx.3_Frame_Shift_Del_p.G352fs|DYRK4_uc001qmy.2_Frame_Shift_Del_p.G352fs|DYRK4_uc021qtq.1_Frame_Shift_Del_p.G206fs|DYRK4_uc001qmz.2_Frame_Shift_Del_p.G66fs|DYRK4_uc001qna.2_5'UTR|DYRK4_uc010ser.2_5'UTR	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	352						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G754G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ACAACAGGGGGAAAAAAAGAT	0.393													-	4719362	A	-	4719362	7	5	63	1	0	1	0	1	0	0	0	0	4858	247	9	0	1091	0	DYRK4	12	4719362	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	13941	4719362	129132533	1110	45843											
AKAP3	10566	broad.mit.edu	37	chr12	4736154	4736154	+	Frame_Shift_Del	DEL	G	G	-													tcatcatcctcatatagcctGgggggagaagacgccaacgg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:4736154delG	uc001qnb.3	-	4	2143	c.1914delC	c.(1912-1914)CCCfs	p.P638fs		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	638					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						CATATAGCCTGGGGGGAGAAG	0.542													-	4736154	G	-	4736154	7	5	63	1	0	1	0	1	0	0	0	0	452	1335	47	0	655	0	AKAP3	12	4736154	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	16792	4736154	129115741	1111	45844											
ANO2	57101	broad.mit.edu	37	chr12	6031894	6031894	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttgagacactgctgtccAtgtttggggccctggccccc	11	14	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:6031894A>G	uc001qnm.2	-	2	159	c.87T>C	c.(85-87)CAT>CAC	p.H29H		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	33	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						ACTGCTGTCCATGTTTGGGGC	0.662													G	6031894	A	G	6031894	2	3	63	1	0	0	0	0	0	0	0	1	697	214	8	3		3	ANO2	12	6031894	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	1295740	6031894	127820001	1112	45845											
VWF	7450	broad.mit.edu	37	chr12	6135070	6135070	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacacagagacccagacgtActtttctggtgtcagcacac	8	14	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:6135070A>G	uc001qnn.1	-	23	3358	c.3108_splice	c.e23+1	p.K1036_splice	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein						blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	ACCCAGACGTACTTTTCTGGT	0.557													G	6135070	A	G	6135070	5	3	63	1	0	0	0	0	0	0	1	0	17243	405	14	3	5451	3	VWF	12	6135070	Splice_Site	SNP	A	TCGA-BR-8078-01A-11D-2340-08	103176	6135070	127716825	1113	45846											
CD163L1	283316	broad.mit.edu	37	chr12	7522059	7522059	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcctttgcaccgcatgtcAtccaaccagatggttccagt	7	13	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:7522059A>G	uc001qsy.2	-	15	3959	c.3933T>C	c.(3931-3933)GAT>GAC	p.D1311D	CD163L1_uc010sge.1_Silent_p.D1321D	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	1311	SRCR 12.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						ACCGCATGTCATCCAACCAGA	0.577													G	7522059	A	G	7522059	2	3	63	1	0	0	0	0	0	0	0	1	2968	214	8	3		3	CD163L1	12	7522059	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	1386989	7522059	126329836	1114	45847											
PHC1	1911	broad.mit.edu	37	chr12	9083041	9083041	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatctttcaggttcagaactTggcagtaaggaatcaacagg	10	7	4	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:9083041T>C	uc001qvd.2	+	7	779	c.623T>C	c.(622-624)TTG>TCG	p.L208S	PHC1_uc001qvc.1_Missense_Mutation_p.L163S|PHC1_uc010sgn.1_Missense_Mutation_p.L208S|PHC1_uc001qve.2_Missense_Mutation_p.L208S	NM_004426	NP_004417	P78364	PHC1_HUMAN	polyhomeotic 1-like	208					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|breast(1)	2						GTTCAGAACTTGGCAGTAAGG	0.493													C	9083041	T	C	9083041	3	2	63	1	0	0	0	0	1	0	0	0	11816	1821	63	3	645	3	PHC1	12	9083041	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1560982	9083041	124768854	1115	45848											
TAS2R19	259294	broad.mit.edu	37	chr12	11174710	11174710	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccttcatattcttttgtcCacactctctcatccatggtt	3	13	4	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:11174710C>T	uc010shj.1	-	1	461	c.461G>A	c.(460-462)TGG>TAG	p.W154*	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176888	NP_795369	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	154	Extracellular (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			skin(1)	1						TTCTTTTGTCCACACTCTCTC	0.393													T	11174710	C	T	11174710	4	4	63	1	0	0	0	0	0	1	0	0	15567	595	21	4	441	4	TAS2R19	12	11174710	Nonsense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2091669	11174710	122677185	1116	45849											
GRIN2B	2904	broad.mit.edu	37	chr12	13715915	13715915	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacaagggcccggaagtcCggcctggctttcgacgcccc	14	15	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:13715915C>T	uc001rbt.2	-	13	4436	c.4257G>A	c.(4255-4257)CCG>CCA	p.P1419P		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1419	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCGGAAGTCCGGCCTGGCTT	0.612													T	13715915	C	T	13715915	2	4	63	1	0	0	0	0	0	0	0	1	6780	639	23	1		1	GRIN2B	12	13715915	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2541205	13715915	120135980	1117	45850											
GRIN2B	2904	broad.mit.edu	37	chr12	13716141	13716141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaaaggtgctctcgccaGctgacatctcaaacatgtgg	11	11	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:13716141G>A	uc001rbt.2	-	13	4210	c.4031C>T	c.(4030-4032)GCT>GTT	p.A1344V		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1344	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCTCTCGCCAGCTGACATCTC	0.607													A	13716141	G	A	13716141	3	1	63	1	0	0	0	0	1	0	0	0	6780	971	34	2	427	2	GRIN2B	12	13716141	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	226	13716141	120135754	1118	45851											
ARHGDIB	397	broad.mit.edu	37	chr12	15095522	15095522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggtcttgcttgtcatcGtcggtgaagaaggacttgtt	14	6	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:15095522G>A	uc001rcq.1	-	6	644	c.540C>T	c.(538-540)GAC>GAT	p.D180D	ARHGDIB_uc001rcp.1_RNA	NM_001175	NP_001166	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	180					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity				0						GCTTGTCATCGTCGGTGAAGA	0.567													A	15095522	G	A	15095522	2	1	63	1	0	0	0	0	0	0	0	1	891	1136	40	1		1	ARHGDIB	12	15095522	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1379381	15095522	118756373	1119	45852											
PIK3C2G	5288	broad.mit.edu	37	chr12	18491390	18491391	+	Frame_Shift_Ins	INS	-	-	A													taatattattgaagaagttaINSaaaaaatatgcagtgttcta							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:18491389_18491390T>TA	uc001rdt.3	+	8	1418_1419	c.1302_1303T>TA	c.(1300-1305)gttaaafs	p.V434fs	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Frame_Shift_Ins_p.V434fs|PIK3C2G_uc010sic.2_Frame_Shift_Ins_p.V212fs	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	434					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTGAAGAAGTTAAAAAAATATG	0.312													A	18491391	-	A	18491390	7	5	63	1	0	1	1	0	0	0	0	0	11911	363	13	0	1333	0	PIK3C2G	12	18491390	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	3395868	18491390	115360505	1120	45853											
SLCO1C1	53919	broad.mit.edu	37	chr12	20903684	20903684	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atggggatttaaaagatgtgGaagtagaggatcatgcagat	14	2	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:20903684G>T	uc001rej.3	+	15	2229	c.1874G>T	c.(1873-1875)GGA>GTA	p.G625V	SLCO1C1_uc010sii.1_Missense_Mutation_p.G625V|SLCO1C1_uc010sij.1_Missense_Mutation_p.G576V|SLCO1C1_uc009zip.2_Missense_Mutation_p.G459V|SLCO1C1_uc001rei.2_Missense_Mutation_p.G625V|SLCO1C1_uc010sik.1_Missense_Mutation_p.G507V	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	625	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					AAAAGATGTGGAAGTAGAGGA	0.383													T	20903684	G	T	20903684	3	4	63	1	0	0	0	0	1	0	0	0	14725	1174	41	5	1924	5	SLCO1C1	12	20903684	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2412294	20903684	112948211	1121	45854											
GOLT1B	51026	broad.mit.edu	37	chr12	21661406	21661406	+	Frame_Shift_Del	DEL	T	T	-													cataaaatgaaagctacaggTttttttctgggtggtgtatt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:21661405_21661405GT>G	uc001rez.2	+	2	365	c.206_206GT>G	c.(205-207)ggtfs	p.G69fs	GOLT1B_uc009zis.2_Non-coding_Transcript|GOLT1B_uc009zit.2_Non-coding_Transcript|GOLT1B_uc009ziu.2_Intron	NM_016072	NP_057156	Q9Y3E0	GOT1B_HUMAN	Homo sapiens golgi transport 1B (GOLT1B), mRNA.	69	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum|integral to membrane	signal transducer activity			large_intestine(2)|lung(3)	5						AAAGCTACAGGTTTTTTTCTG	0.343													-	21661406	T	-	21661406	7	5	63	1	0	1	0	1	0	0	0	0	6571	1712	60	0	217	0	GOLT1B	12	21661406	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	757722	21661406	112190489	1122	45855											
GYS2	2998	broad.mit.edu	37	chr12	21721877	21721877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacacgtgagcgcaatgaaCggaagctcgctccatgcagt	12	11	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:21721877C>T	uc001rfb.2	-	5	1000	c.745G>A	c.(745-747)GTT>ATT	p.V249I		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	249					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			lung(1)|skin(1)	2						GCGCAATGAACGGAAGCTCGC	0.423													T	21721877	C	T	21721877	3	4	63	1	0	0	0	0	1	0	0	0	6913	536	19	1	1414	1	GYS2	12	21721877	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	60471	21721877	112130018	1123	45856											
KRAS	3845	broad.mit.edu	37	chr12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggcactcttgcctacgCcaccagctccaactaccaca	5	18	2	0	rs112445441		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:25398281C>T	uc001rgp.1	-	2	219	c.38G>A	c.(37-39)GGC>GAC	p.G13D	KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	13	GTP.		G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).|G -> D (in a breast carcinoma cell line and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13D(2647)|p.G13C(182)|p.G13S(58)|p.G13R(41)|p.G13V(27)|p.G13A(24)|p.G13G(11)|p.G13E(4)|p.G12_G13insG(4)|p.G13N(3)|p.G13I(1)|p.G13_V14>DI(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(NCIH647_LUNG)|G13D(MDAMB231_BREAST)|G13D(NCIH747_LARGE_INTESTINE)|G13D(T84_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT15_LARGE_INTESTINE)|G13D(HCT116_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25398281	C	T	25398281	3	4	63	1	0	0	0	0	1	0	0	0	8438	739	26	2	668	2	KRAS	12	25398281	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3676404	25398281	108453614	1124	45857											
OVCH1	341350	broad.mit.edu	37	chr12	29640731	29640731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgggaactgaacctccagCacaaccagctacccaggaag	9	14	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:29640731C>T	uc001rix.1	-	7	787	c.787G>A	c.(787-789)GCT>ACT	p.A263T		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	263	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GAACCTCCAGCACAACCAGCT	0.318													T	29640731	C	T	29640731	3	4	63	1	0	0	0	0	1	0	0	0	11323	710	25	2	2705	2	OVCH1	12	29640731	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4242450	29640731	104211164	1125	45858											
OVCH1	341350	broad.mit.edu	37	chr12	29648250	29648250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgttttagatacagcagtGcaatatcaggactcatatat	8	6	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:29648250G>A	uc001rix.1	-	4	422	c.422C>T	c.(421-423)GCA>GTA	p.A141V		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	141	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ATACAGCAGTGCAATATCAGG	0.353													A	29648250	G	A	29648250	3	1	63	1	0	0	0	0	1	0	0	0	11323	1319	46	2	3082	2	OVCH1	12	29648250	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	7519	29648250	104203645	1126	45859											
CAPRIN2	65981	broad.mit.edu	37	chr12	30888129	30888129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctctgggccttcttttgCgcttttagtagctgttaaaa	8	9	2	0	rs145888176		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:30888129C>T	uc001rji.1	-	4	1333	c.582G>A	c.(580-582)GCG>GCA	p.A194A	CAPRIN2_uc001rjf.1_5'UTR|CAPRIN2_uc001rjg.1_5'UTR|CAPRIN2_uc001rjh.1_Silent_p.A194A|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjk.3_Silent_p.A194A|CAPRIN2_uc001rjl.3_Silent_p.A194A	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	194	Potential.				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)					CCTTCTTTTGCGCTTTTAGTA	0.378													T	30888129	C	T	30888129	2	4	63	1	0	0	0	0	0	0	0	1	2636	755	27	1		1	CAPRIN2	12	30888129	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1239879	30888129	102963766	1127	45860											
KIF21A	55605	broad.mit.edu	37	chr12	39735929	39735929	+	Splice_Site	DEL	A	A	-													tcctctttaccagccacactAaaaaaaggaacataagggta							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:39735928_39735928TA>T	uc001rly.3	-	13	2133	c.1713_splice	c.e13-1	p.S571_splice	KIF21A_uc001rlw.3_5'Flank|KIF21A_uc001rlx.3_Splice_Site_p.S558_splice|KIF21A_uc001rlz.3_Splice_Site_p.S558_splice|KIF21A_uc010skl.2_Splice_Site_p.S558_splice	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	571					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCAGCCACACTAAAAAAAGGA	0.333													-	39735929	A	-	39735929	8	5	63	1	0	1	0	1	0	0	1	0	8288	377	13	0		0	KIF21A	12	39735929	Splice_Site	DEL	A	TCGA-BR-8078-01A-11D-2340-08	8847800	39735929	94115966	1128	45861											
KIF21A	55605	broad.mit.edu	37	chr12	39745735	39745735	+	Frame_Shift_Del	DEL	T	T	-													ttgctgtggctcttgtcaagTtttttcgaaggttctcattc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:39745735delT	uc001rly.2	-	11	1663	c.1517delA	c.(1516-1518)AACfs	p.N506fs	KIF21A_uc001rlx.2_Frame_Shift_Del_p.N506fs|KIF21A_uc001rlz.2_Frame_Shift_Del_p.N506fs|KIF21A_uc010skl.1_Frame_Shift_Del_p.N506fs|KIF21A_uc001rma.1_Frame_Shift_Del_p.N514fs	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	506	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				TCTTGTCAAGTTTTTTCGAAG	0.333													-	39745735	T	-	39745735	7	5	63	1	0	1	0	1	0	0	0	0	8288	1725	60	0	3619	0	KIF21A	12	39745735	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	9806	39745735	94106160	1129	45862											
LRRK2	120892	broad.mit.edu	37	chr12	40699672	40699673	+	Frame_Shift_Ins	INS	-	-	G													agatcctttcccaatgaaatINSggggaaattaagcaaaatat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:40699672_40699673insG	uc001rmg.3	+	28	3984_3985	c.3863_3864insG	c.(3862-3864)ATGfs	p.M1288fs	LRRK2_uc009zjw.2_Frame_Shift_Ins_p.M126fs|LRRK2_uc001rmi.2_Frame_Shift_Ins_p.M121fs	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1288	LRR 12.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CCCAATGAAATGGGGAAATTAA	0.356													G	40699673	-	G	40699672	7	5	63	1	0	1	1	0	0	0	0	0	9033	1464	51	0	3973	0	LRRK2	12	40699672	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	953937	40699672	93152223	1130	45863	171	2									
LRRK2	120892	broad.mit.edu	37	chr12	40699673	40699674	+	Frame_Shift_Ins	INS	-	-	G													gatcctttcccaatgaaatgINSgggaaattaagcaaaatatg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:40699672_40699673T>TG	uc001rmg.4	+	27	3984_3985	c.3863_3864T>TG	c.(3862-3864)atgfs	p.M1288fs	LRRK2_uc009zjw.3_Frame_Shift_Ins_p.M126fs|LRRK2_uc001rmi.3_Frame_Shift_Ins_p.M121fs	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1288					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CCCAATGAAATGGGGAAATTAA	0.356													G	40699674	-	G	40699673	7	5	63	1	0	1	1	0	0	0	0	0	9033	1348	47	0	3974	0	LRRK2	12	40699673	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1	40699673	93152222	1131	45864	171	2									
LRRK2	120892	broad.mit.edu	37	chr12	40702310	40702310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaggctgtgccttataaccGaatgaaacttatgattgtgg	10	6	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:40702310G>A	uc001rmg.3	+	29	4122	c.4001G>A	c.(4000-4002)CGA>CAA	p.R1334Q	LRRK2_uc009zjw.2_Missense_Mutation_p.R172Q|LRRK2_uc001rmi.2_Missense_Mutation_p.R167Q	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1334	Roc.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CCTTATAACCGAATGAAACTT	0.323													A	40702310	G	A	40702310	3	1	63	1	0	0	0	0	1	0	0	0	9033	1058	37	1	4115	1	LRRK2	12	40702310	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2637	40702310	93149585	1132	45865											
ADAMTS20	80070	broad.mit.edu	37	chr12	43822569	43822569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcacgacagcttacatagcGggcttgagtacctcttccac	8	13	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:43822569G>A	uc010skx.1	-	25	3523	c.3523C>T	c.(3523-3525)CGC>TGC	p.R1175C	ADAMTS20_uc001rno.1_Missense_Mutation_p.R293C|ADAMTS20_uc001rnp.1_Missense_Mutation_p.R329C	NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1175	TSP type-1 7.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTTACATAGCGGGCTTGAGTA	0.433													A	43822569	G	A	43822569	3	1	63	1	0	0	0	0	1	0	0	0	266	1116	39	1	2268	1	ADAMTS20	12	43822569	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3120259	43822569	90029326	1133	45866											
ADAMTS20	80070	broad.mit.edu	37	chr12	43925845	43925845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcacagtttacctgacaCactgcaatacttcagagtct	5	11	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:43925845C>T	uc010skx.1	-	3	607	c.607G>A	c.(607-609)GTG>ATG	p.V203M		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	203						proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTACCTGACACACTGCAATAC	0.308													T	43925845	C	T	43925845	3	4	63	1	0	0	0	0	1	0	0	0	266	478	17	4	5272	4	ADAMTS20	12	43925845	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	103276	43925845	89926050	1134	45867											
TMEM117	84216	broad.mit.edu	37	chr12	44781841	44781841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatggaattatcttcctcGtcttgattttggatcttaat	6	7	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:44781841G>A	uc001rod.2	+	8	997	c.931G>A	c.(931-933)GTC>ATC	p.V311I	TMEM117_uc001roe.2_Missense_Mutation_p.V207I|TMEM117_uc009zkc.2_Silent_p.S267S	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	311	Helical; (Potential).					endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TATCTTCCTCGTCTTGATTTT	0.328													A	44781841	G	A	44781841	3	1	63	1	0	0	0	0	1	0	0	0	16028	1145	40	1	957	1	TMEM117	12	44781841	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	855996	44781841	89070054	1135	45868											
NELL2	4753	broad.mit.edu	37	chr12	45173705	45173705	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgtgccacttgtcatcagCcaaaatgtaaggaaacactt	7	10	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:45173705C>A	uc001rog.2	-	4	1031	c.436G>T	c.(436-438)GCT>TCT	p.A146S	NELL2_uc001rof.3_Missense_Mutation_p.A145S|NELL2_uc001roh.2_Missense_Mutation_p.A146S|NELL2_uc009zkd.2_Missense_Mutation_p.A145S|NELL2_uc010skz.1_Missense_Mutation_p.A196S|NELL2_uc010sla.1_Missense_Mutation_p.A169S|NELL2_uc001roi.1_Missense_Mutation_p.A146S|NELL2_uc010slb.1_Missense_Mutation_p.A145S|NELL2_uc001roj.2_Missense_Mutation_p.A146S	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	146	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTGTCATCAGCCAAAATGTAA	0.458													A	45173705	C	A	45173705	3	1	63	1	0	0	0	0	1	0	0	0	10334	739	26	5	2082	5	NELL2	12	45173705	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	391864	45173705	88678190	1136	45869											
ARID2	196528	broad.mit.edu	37	chr12	46123895	46123895	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacggtctctacaccagagTcactactttaggcggattcg	9	12	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:46123895T>C	uc001ros.1	+	2	161	c.161T>C	c.(160-162)GTC>GCC	p.V54A	ARID2_uc001ror.2_Missense_Mutation_p.V54A|LOC400027_uc001roq.2_5'Flank	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	54	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TACACCAGAGTCACTACTTTA	0.527													C	46123895	T	C	46123895	3	2	63	1	0	0	0	0	1	0	0	0	915	1667	58	3	167	3	ARID2	12	46123895	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	950190	46123895	87728000	1137	45870											
HDAC7	51564	broad.mit.edu	37	chr12	48179218	48179218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggatggcattgaggttggGtttctgtttccagccttctt	13	8	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:48179218G>A	uc010slo.1	-	24	2938	c.2743C>T	c.(2743-2745)CCC>TCC	p.P915S	HDAC7_uc009zku.2_RNA|HDAC7_uc001rqe.2_Missense_Mutation_p.P349S|HDAC7_uc001rqj.3_Missense_Mutation_p.P878S|HDAC7_uc001rqk.3_Missense_Mutation_p.P898S	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7 isoform a	876					negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		TTGAGGTTGGGTTTCTGTTTC	0.557													A	48179218	G	A	48179218	3	1	63	1	0	0	0	0	1	0	0	0	7012	1261	44	4	244	4	HDAC7	12	48179218	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2055323	48179218	85672677	1138	45871											
HDAC7	51564	broad.mit.edu	37	chr12	48189044	48189045	+	Frame_Shift_Ins	INS	-	-	G													ggtgggggagcggtggcactINSggggggcaggggctctgagc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:48189044_48189045insG	uc010slo.1	-	11	1401_1402	c.1206_1207insC	c.(1204-1209)CCCAGTfs	p.P402fs	HDAC7_uc001rqe.2_5'Flank|HDAC7_uc001rqj.3_Frame_Shift_Ins_p.P365fs|HDAC7_uc001rqk.3_Frame_Shift_Ins_p.P385fs	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7 isoform a	363_364	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		GCGGTGGCACTGGGGGGCAGGG	0.658													G	48189045	-	G	48189044	7	5	63	1	0	1	1	0	0	0	0	0	7012	1580	55	0	1832	0	HDAC7	12	48189044	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	9826	48189044	85662851	1139	45872	172	2									
HDAC7	51564	broad.mit.edu	37	chr12	48189045	48189046	+	Frame_Shift_Ins	INS	-	-	G													gtgggggagcggtggcactgINSgggggcaggggctctgagcg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:48189044_48189045T>TG	uc010slo.2	-	10	1401_1402	c.1206_1207A>CA	c.(1204-1209)cccagtfs	p.P402fs	HDAC7_uc001rqe.3_5'Flank|HDAC7_uc001rqj.4_Frame_Shift_Ins_p.P365fs|HDAC7_uc001rqk.4_Frame_Shift_Ins_p.P385fs	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.	363	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GCGGTGGCACTGGGGGGCAGGG	0.658													G	48189046	-	G	48189045	7	5	63	1	0	1	1	0	0	0	0	0	7012	1335	47	0	1833	0	HDAC7	12	48189045	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1	48189045	85662850	1140	45873	172	2									
OR8S1	341568	broad.mit.edu	37	chr12	48921732	48921732	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacagcagtcatttgcctcAgctgcacaaaggccaggcca	11	13	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:48921732A>G	uc010slu.1	+	2	926	c.926A>G	c.(925-927)CAG>CGG	p.Q309R		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S,	309	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CATTTGCCTCAGCTGCACAAA	0.532													G	48921732	A	G	48921732	3	3	63	1	0	0	0	0	1	0	0	0	11246	188	7	3	932	3	OR8S1	12	48921732	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	732687	48921732	84930163	1141	45874											
WNT1	7471	broad.mit.edu	37	chr12	49374348	49374348	+	Frame_Shift_Del	DEL	G	G	-													cgggggccccgactggcactGggggggctgcagcgacaaca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:49374348delG	uc001rsu.2	+	3	698	c.500delG	c.(499-501)TGGfs	p.W167fs		NM_005430	NP_005421	P04628	WNT1_HUMAN	wingless-type MMTV integration site family,	167					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			kidney(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.244)		gACTGGCACTGGGGGGGCTGC	0.552													-	49374348	G	-	49374348	7	5	63	1	0	1	0	1	0	0	0	0	17378	1357	47	0	510	0	WNT1	12	49374348	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	452616	49374348	84477547	1142	45875											
MLL2	8085	broad.mit.edu	37	chr12	49445526	49445526	+	Frame_Shift_Del	DEL	G	G	-													ataggcgcgatacctcaggtGggggggacataggtgattct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:49445525_49445525TG>T	uc001rta.4	-	9	1941	c.1941_1941CA>A	c.(1939-1941)ccafs	p.P647fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	647	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.P647fs*38(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ATACCTCAGGTGGGGGGGACA	0.632			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	49445526	G	-	49445526	7	5	63	1	0	1	0	1	0	0	0	0	9621	1348	47	0	14853	0	MLL2	12	49445526	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	71178	49445526	84406369	1143	45876											
TUBA1B	10376	broad.mit.edu	37	chr12	49523373	49523375	+	In_Frame_Del	DEL	CTC	CTC	-													gaaggtgttgaaggagtcatCtcctcccccaatggtcttgt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:49523372_49523374TCTC>T	uc001rtm.3	-	1	356_358	c.135_137GAGA>A	c.(133-138)ggagat>ggAt	p.D47del	TUBA1B_uc021qxn.1_5'Flank|TUBA1B_uc001rtl.3_In_Frame_Del_p.D12del	NM_006082	NP_006073	P68363	TBA1B_HUMAN	Homo sapiens tubulin, alpha 1b (TUBA1B), mRNA.	47					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GAAGGAGTCATCTCCTCCCCCAA	0.576													-	49523375	CTC	-	49523373	7	5	63	1	0	1	0	1	0	0	0	0	16741	913	32	0	1231	0	TUBA1B	12	49523373	In_Frame_Del	DEL	CTC	TCGA-BR-8078-01A-11D-2340-08	77847	49523373	84328522	1144	45877											
ACCN2	41	broad.mit.edu	37	chr12	50452564	50452564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaggatggaactgaaggcCgaggaggaggaggtgggtgg	21	4	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:50452564C>T	uc001rvw.2	+	2	244	c.15C>T	c.(13-15)GCC>GCT	p.A5A	ACCN2_uc001rvv.2_Silent_p.A5A|ACCN2_uc009zln.2_5'UTR|ACCN2_uc009zlo.2_Silent_p.A5A	NM_001095	NP_001086	P78348	ACCN2_HUMAN	amiloride-sensitive cation channel 2, neuronal	5	Cytoplasmic (By similarity).				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(1)	1					Amiloride(DB00594)	AACTGAAGGCCGAGGAGGAGG	0.617													T	50452564	C	T	50452564	2	4	63	1	0	0	0	0	0	0	0	1	129	639	23	1		1	ACCN2	12	50452564	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	929191	50452564	83399331	1145	45878											
LARP4	113251	broad.mit.edu	37	chr12	50835413	50835413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagttaaaacatttcaggGcaagccaattatggtaagaa	9	5	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:50835413G>A	uc001rwp.1	+	8	935	c.791G>A	c.(790-792)GGC>GAC	p.G264D	LARP4_uc001rwo.1_Missense_Mutation_p.G270D|LARP4_uc001rwq.1_Missense_Mutation_p.G264D|LARP4_uc001rwr.1_Missense_Mutation_p.G264D|LARP4_uc001rws.1_Missense_Mutation_p.G263D|LARP4_uc009zlr.1_Missense_Mutation_p.G83D|LARP4_uc001rwt.1_5'UTR|LARP4_uc001rwm.2_Missense_Mutation_p.G264D|LARP4_uc001rwn.2_Missense_Mutation_p.G194D	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	c-Mpl binding protein isoform a	264	RRM.						nucleotide binding|RNA binding			ovary(1)	1						ACATTTCAGGGCAAGCCAATT	0.289													A	50835413	G	A	50835413	3	1	63	1	0	0	0	0	1	0	0	0	8630	1203	42	2	821	2	LARP4	12	50835413	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	382849	50835413	83016482	1146	45879											
TMPRSS12	283471	broad.mit.edu	37	chr12	51237698	51237698	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccgaagcacaagctggCgcatggccgtgggtggtgag	18	10	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:51237698C>T	uc001rwx.3	+	2	308	c.261C>T	c.(259-261)GGC>GGT	p.G87G	TMPRSS12_uc001rwy.2_Silent_p.G87G	NM_182559	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane protease, serine 12 precursor	87	Peptidase S1.|Extracellular (Potential).				proteolysis	integral to membrane	serine-type endopeptidase activity				0						CACAAGCTGGCGCATGGCCGT	0.488													T	51237698	C	T	51237698	2	4	63	1	0	0	0	0	0	0	0	1	16241	755	27	1		1	TMPRSS12	12	51237698	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	402285	51237698	82614197	1147	45880											
SLC11A2	4891	broad.mit.edu	37	chr12	51389421	51389421	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttactcaccacctgctcGttggttttcccaaaaaatgc	7	13	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:51389421G>A	uc001rxe.3	-	10	1078	c.981C>T	c.(979-981)AAC>AAT	p.N327N	SLC11A2_uc001rxd.3_Silent_p.N176N|SLC11A2_uc001rxc.3_Silent_p.N327N|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc001rxg.1_5'Flank|SLC11A2_uc010smx.1_Silent_p.N323N|SLC11A2_uc001rxh.1_Silent_p.N327N|SLC11A2_uc001rxj.1_Silent_p.N327N|SLC11A2_uc001rxi.2_Silent_p.N327N|SLC11A2_uc001rxk.1_Silent_p.N356N|SLC11A2_uc010smy.1_Silent_p.N290N	NM_000617	NP_000608	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled	327	Extracellular (Potential).				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			large_intestine(1)	1						CCACCTGCTCGTTGGTTTTCC	0.428													A	51389421	G	A	51389421	2	1	63	1	0	0	0	0	0	0	0	1	14381	1136	40	1		1	SLC11A2	12	51389421	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	151723	51389421	82462474	1148	45881											
SCN8A	6334	broad.mit.edu	37	chr12	52139762	52139762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaccaattagcctcctacGggcggaaggacagaatcaac	11	11	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:52139762G>A	uc001ryw.2	+	13	2252	c.2074G>A	c.(2074-2076)GGG>AGG	p.G692R	SCN8A_uc010snl.1_Missense_Mutation_p.G557R|SCN8A_uc001ryx.1_Missense_Mutation_p.G568R|SCN8A_uc001ryz.1_Missense_Mutation_p.G568R|SCN8A_uc001ryy.2_Missense_Mutation_p.G557R	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	692					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGCCTCCTACGGGCGGAAGGA	0.383													A	52139762	G	A	52139762	3	1	63	1	0	0	0	0	1	0	0	0	13924	1116	39	1	2120	1	SCN8A	12	52139762	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	750341	52139762	81712133	1149	45882											
KRT75	9119	broad.mit.edu	37	chr12	52827736	52827736	+	Frame_Shift_Del	DEL	G	G	-													tgacctcttggatgcctccaGggggacacacggggaagctg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:52827735_52827735AG>A	uc001saj.2	-	0	376	c.354_354CT>T	c.(352-354)cctfs	p.P118fs		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	118	Gly-rich.|Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GGATGCCTCCAGGGGGACACA	0.622													-	52827736	G	-	52827736	7	5	63	1	0	1	0	1	0	0	0	0	8488	1000	35	0	1338	0	KRT75	12	52827736	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	687974	52827736	81024159	1150	45883											
KRT2	3849	broad.mit.edu	37	chr12	53040721	53040721	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacgctgctcggcatctgcGatggcatcttgcacattctt	9	14	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:53040721G>A	uc001sat.2	-	7	1305	c.1272C>T	c.(1270-1272)ATC>ATT	p.I424I		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	424	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		CGGCATCTGCGATGGCATCTT	0.572													A	53040721	G	A	53040721	2	1	63	1	0	0	0	0	0	0	0	1	8457	1048	37	1		1	KRT2	12	53040721	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	212985	53040721	80811174	1151	45884											
OR10P1	121130	broad.mit.edu	37	chr12	56031165	56031165	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacccatgcctccctcAtcttctctctaccttttcgc	2	21	4	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:56031165A>G	uc010spq.1	+	1	490	c.490A>G	c.(490-492)ATC>GTC	p.I164V		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P,	164	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2						TGCCTCCCTCATCTTCTCTCT	0.597													G	56031165	A	G	56031165	3	3	63	1	0	0	0	0	1	0	0	0	10915	217	8	3	492	3	OR10P1	12	56031165	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	2990444	56031165	77820730	1152	45885											
ERBB3	2065	broad.mit.edu	37	chr12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccattgcccaacctccgcGtggtgcgagggacccaggtc	12	15	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:56478854G>A	uc001sjh.2	+	3	503	c.310G>A	c.(310-312)GTG>ATG	p.V104M	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45M|ERBB3_uc001sjg.2_Missense_Mutation_p.V104M	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	104	Extracellular (Potential).		V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).		cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.V104M(1)		lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517													A	56478854	G	A	56478854	3	1	63	1	0	0	0	0	1	0	0	0	5208	1145	40	1	320	1	ERBB3	12	56478854	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	447689	56478854	77373041	1153	45886											
ESYT1	23344	broad.mit.edu	37	chr12	56536104	56536104	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggcgtgctgggctcattAtccctgcccctctcagagct	10	15	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:56536104A>G	uc001sjq.2	+	25	2678	c.2628A>G	c.(2626-2628)TTA>TTG	p.L876L	ESYT1_uc001sjr.2_Silent_p.L886L	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	876	C2 4.					integral to membrane				ovary(4)|skin(1)	5						TGGGCTCATTATCCCTGCCCC	0.572													G	56536104	A	G	56536104	2	3	63	1	0	0	0	0	0	0	0	1	5264	446	16	3		3	ESYT1	12	56536104	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	57250	56536104	77315791	1154	45887											
SMARCC2	6601	broad.mit.edu	37	chr12	56557535	56557535	+	Frame_Shift_Del	DEL	G	G	-													ggctgtggggtctggaggcaGgggggtgcctgggtctgtgg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:56557535delG	uc001skb.2	-	28	3689	c.3583delC	c.(3583-3585)CTGfs	p.L1195fs	SMARCC2_uc001skd.2_Frame_Shift_Del_p.L1133fs|SMARCC2_uc001ska.2_Frame_Shift_Del_p.L1111fs|SMARCC2_uc001skc.2_Frame_Shift_Del_p.L1132fs|SMARCC2_uc010sqf.1_Frame_Shift_Del_p.L1000fs	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	1195	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCTGGAGGCAGGGGGGTGCCT	0.632													-	56557535	G	-	56557535	7	5	63	1	0	1	0	1	0	0	0	0	14776	991	35	0	65	0	SMARCC2	12	56557535	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	21431	56557535	77294360	1155	45888											
ANKRD52	283373	broad.mit.edu	37	chr12	56648052	56648052	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgtttccaaaagcattGggttcatcgatctggatatt	10	7	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:56648052G>T	uc001skm.3	-	8	795	c.705C>A	c.(703-705)CCC>CCA	p.P235P	ANKRD52_uc001skn.1_RNA	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	235							protein binding			ovary(2)	2						CAAAAGCATTGGGTTCATCGA	0.502													T	56648052	G	T	56648052	2	4	63	1	0	0	0	0	0	0	0	1	678	1335	47	5		5	ANKRD52	12	56648052	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	90517	56648052	77203843	1156	45889											
ATP5B	506	broad.mit.edu	37	chr12	57033006	57033006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagaaacgctgtattttcCgtgcacgggacacggtcaac	10	11	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:57033006C>T	uc001slr.2	-	9	1478	c.1373G>A	c.(1372-1374)CGG>CAG	p.R458Q	BAZ2A_uc001slq.1_5'Flank|BAZ2A_uc010sqr.1_5'Flank	NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	458					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1						CTGTATTTTCCGTGCACGGGA	0.478													T	57033006	C	T	57033006	3	4	63	1	0	0	0	0	1	0	0	0	1148	652	23	1	224	1	ATP5B	12	57033006	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	384954	57033006	76818889	1157	45890											
LRP1	4035	broad.mit.edu	37	chr12	57535223	57535223	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgggtactgagctgtgtgTtcccatgtcccgcctctgca	11	14	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:57535223T>C	uc001snd.2	+	3	723	c.257T>C	c.(256-258)GTT>GCT	p.V86A	LRP1_uc010sre.1_Missense_Mutation_p.V86A|LRP1_uc001snb.2_Missense_Mutation_p.V86A|LRP1_uc001snc.1_Missense_Mutation_p.V86A	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	86	Extracellular (Potential).|LDL-receptor class A 2.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GAGCTGTGTGTTCCCATGTCC	0.592													C	57535223	T	C	57535223	3	2	63	1	0	0	0	0	1	0	0	0	8951	1725	60	3	267	3	LRP1	12	57535223	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	502217	57535223	76316672	1158	45891											
LRP1	4035	broad.mit.edu	37	chr12	57554890	57554890	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgatactgctcaatggcacaGaccggaaggtgggcaggcat	14	10	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:57554890G>T	uc001snd.2	+	13	2660	c.2194G>T	c.(2194-2196)GAC>TAC	p.D732Y		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	732	LDL-receptor class B 7.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAATGGCACAGACCGGAAGGT	0.537													T	57554890	G	T	57554890	3	4	63	1	0	0	0	0	1	0	0	0	8951	942	33	5	2244	5	LRP1	12	57554890	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	19667	57554890	76297005	1159	45892											
LRP1	4035	broad.mit.edu	37	chr12	57560723	57560723	+	Frame_Shift_Del	DEL	C	C	-													tgccccccagcccgcacctgCccccccaaccagttctcctg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:57560722_57560722GC>G	uc001snd.3	+	17	3273	c.2807_2807GC>G	c.(2806-2808)tgcfs	p.C936fs	LRP1_uc009zph.1_5'Flank|LRP1_uc009zpi.1_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	936	LDL-receptor class A 5.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCCGCACCTGCCCCCCCAAC	0.592													-	57560723	C	-	57560723	7	5	63	1	0	1	0	1	0	0	0	0	8951	747	26	0	2878	0	LRP1	12	57560723	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	5833	57560723	76291172	1160	45893											
LRP1	4035	broad.mit.edu	37	chr12	57572242	57572242	+	Frame_Shift_Del	DEL	G	G	-													cgtttgcagtgacgctgtacGggggggaggtctactggact					rs139915490		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:57572241_57572241CG>C	uc001snd.3	+	26	4927	c.4461_4461CG>C	c.(4459-4461)tacfs	p.Y1487fs		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1487					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGG	0.592													-	57572242	G	-	57572242	7	5	63	1	0	1	0	1	0	0	0	0	8951	1116	39	0	4568	0	LRP1	12	57572242	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	11519	57572242	76279653	1161	45894											
LRP1	4035	broad.mit.edu	37	chr12	57598433	57598433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttcgtgtgccctcccaacCggcccttccgttgcaagaat	10	15	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:57598433C>T	uc001snd.2	+	72	11561	c.11095C>T	c.(11095-11097)CGG>TGG	p.R3699W		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3699	Extracellular (Potential).|LDL-receptor class A 30.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCTCCCAACCGGCCCTTCCG	0.627													T	57598433	C	T	57598433	3	4	63	1	0	0	0	0	1	0	0	0	8951	643	23	1	11381	1	LRP1	12	57598433	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	26191	57598433	76253462	1162	45895											
GLI1	2735	broad.mit.edu	37	chr12	57859040	57859040	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccttcccaacttgccaggTgagagtccccatattgctac	7	15	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:57859040T>C	uc001snx.2	+	5	612	c.534_splice	c.e5+2	p.Q178_splice	GLI1_uc009zpq.2_Splice_Site_p.Q50_splice	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1						epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			ACTTGCCAGGTGAGAGTCCCC	0.562													C	57859040	T	C	57859040	5	2	63	1	0	0	0	0	0	0	1	0	6437	1710	59	3	550	3	GLI1	12	57859040	Splice_Site	SNP	T	TCGA-BR-8078-01A-11D-2340-08	260607	57859040	75992855	1163	45896											
DCTN2	10540	broad.mit.edu	37	chr12	57927806	57927806	+	Frame_Shift_Del	DEL	G	G	-													aagtgacaaggctgctatctGggggggtcccagtggttttt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:57927805_57927805TG>T	uc021qzn.1	-	8	747	c.615_615CA>A	c.(613-615)ccafs	p.P205fs	DCTN2_uc001som.1_Frame_Shift_Del_p.P200fs|DCTN2_uc009zpv.1_Frame_Shift_Del_p.P113fs|DCTN2_uc009zpw.1_Frame_Shift_Del_p.P113fs	NM_006400	NP_006391	Q13561	DCTN2_HUMAN	Homo sapiens dynactin 2 (p50) (DCTN2), mRNA.	200					G2/M transition of mitotic cell cycle|cell proliferation|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						GGCTGCTATCTGGGGGGGTCC	0.502													-	57927806	G	-	57927806	7	5	63	1	0	1	0	1	0	0	0	0	4307	1348	47	0	638	0	DCTN2	12	57927806	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	68766	57927806	75924089	1164	45897											
DPY19L2	283417	broad.mit.edu	37	chr12	64055263	64055263	+	Splice_Site	DEL	T	T	-													agtatgaataataaagtcccTttttttaaaaaaagacatat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:64055262_64055262CT>C	uc001srp.1	-	4	632	c.451_splice	c.e4-1	p.G151_splice	DPY19L2_uc009zqk.1_Splice_Site	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	151					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AATAAAGTCCCTTTTTTTAAA	0.259													-	64055263	T	-	64055263	8	5	63	1	0	1	0	1	0	0	1	0	4741	1623	56	0	1903	0	DPY19L2	12	64055263	Splice_Site	DEL	T	TCGA-BR-8078-01A-11D-2340-08	6127457	64055263	69796632	1165	45898											
SRGAP1	57522	broad.mit.edu	37	chr12	64519881	64519881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgaggactggtgggaaggCaggcacaacgggattgacgg	18	7	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:64519881C>T	uc010ssp.1	+	19	2405	c.2349C>T	c.(2347-2349)GGC>GGT	p.G783G	SRGAP1_uc001srv.2_Silent_p.G720G	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	783	SH3.				axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GGTGGGAAGGCAGGCACAACG	0.532													T	64519881	C	T	64519881	2	4	63	1	0	0	0	0	0	0	0	1	15144	697	25	2		2	SRGAP1	12	64519881	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	464618	64519881	69332014	1166	45899											
TBK1	29110	broad.mit.edu	37	chr12	64895142	64895142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccatggatggtggccttcGcaacgttgactgtctttagc	11	10	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:64895142G>A	uc001ssc.1	+	21	2233	c.2171G>A	c.(2170-2172)CGC>CAC	p.R724H		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	724					I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5				GBM - Glioblastoma multiforme(28;0.0386)		GGTGGCCTTCGCAACGTTGAC	0.368													A	64895142	G	A	64895142	3	1	63	1	0	0	0	0	1	0	0	0	15634	1087	38	1	2249	1	TBK1	12	64895142	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	375261	64895142	68956753	1167	45900											
IRAK3	11213	broad.mit.edu	37	chr12	66620619	66620619	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacagattgcagtgtgtagTaagttctatctattattctg	9	5	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:66620619T>C	uc001sth.2	+	7	870	c.768_splice	c.e7+2	p.V256_splice	IRAK3_uc010ssy.1_Splice_Site_p.V195_splice	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3						interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8				GBM - Glioblastoma multiforme(28;0.0203)		CAGTGTGTAGTAAGTTCTATC	0.423													C	66620619	T	C	66620619	5	2	63	1	0	0	0	0	0	0	1	0	7824	1652	57	3	796	3	IRAK3	12	66620619	Splice_Site	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1725477	66620619	67231276	1168	45901											
CNOT2	4848	broad.mit.edu	37	chr12	70732481	70732481	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttcctcaagggatggtgacgGaccaatttggaatgattggc	13	7	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:70732481G>T	uc001svv.2	+	11	1636	c.1057G>T	c.(1057-1059)GAC>TAC	p.D353Y	CNOT2_uc009zro.2_Missense_Mutation_p.D353Y|CNOT2_uc009zrp.2_Missense_Mutation_p.D333Y|CNOT2_uc009zrq.2_Missense_Mutation_p.D353Y|CNOT2_uc001svw.1_Missense_Mutation_p.D93Y	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	353					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity				0	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GATGGTGACGGACCAATTTGG	0.388													T	70732481	G	T	70732481	3	4	63	1	0	0	0	0	1	0	0	0	3619	1174	41	5	1095	5	CNOT2	12	70732481	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	4111862	70732481	63119414	1169	45902											
E2F7	144455	broad.mit.edu	37	chr12	77449858	77449858	+	Frame_Shift_Del	DEL	T	T	-													tcgataaatcaattggttcaTtttttattggagtcttcggg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:77449857_77449857AT>A	uc001sym.4	-	2	383	c.147_147AT>T	c.(145-147)aatfs	p.N49fs		NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	Homo sapiens E2F transcription factor 7 (E2F7), mRNA.	49					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CAATTGGTTCATTTTTTATTG	0.353													-	77449858	T	-	77449858	7	5	63	1	0	1	0	1	0	0	0	0	4872	1493	52	0	2633	0	E2F7	12	77449858	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	6717377	77449858	56402037	1170	45903											
SYT1	6857	broad.mit.edu	37	chr12	79689885	79689885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggctgccgaactgcccGccttggacatggggggcaca	14	13	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:79689885G>A	uc001sys.2	+	8	1182	c.511G>A	c.(511-513)GCC>ACC	p.A171T	SYT1_uc001syt.2_Missense_Mutation_p.A171T|SYT1_uc001syu.2_Missense_Mutation_p.A168T|SYT1_uc001syv.2_Missense_Mutation_p.A171T	NM_001135805	NP_001129277	P21579	SYT1_HUMAN	synaptotagmin I	171	Cytoplasmic (Potential).|Phospholipid binding (Probable).|C2 1.				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			skin(3)|pancreas(2)|ovary(1)	6						CGAACTGCCCGCCTTGGACAT	0.423													A	79689885	G	A	79689885	3	1	63	1	0	0	0	0	1	0	0	0	15462	1087	38	1	525	1	SYT1	12	79689885	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2240027	79689885	54162010	1171	45904											
C12orf26	84190	broad.mit.edu	37	chr12	82872739	82872739	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcatggtctgctcttgtgaAgttgtttgatcccgtgaaat	11	7	2	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:82872739A>G	uc001szq.2	+	12	1769	c.1748A>G	c.(1747-1749)AAG>AGG	p.K583R		NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	hypothetical protein LOC84190	583											0						GCTCTTGTGAAGTTGTTTGAT	0.343													G	82872739	A	G	82872739	3	3	63	1	0	0	0	0	1	0	0	0	1679	72	3	3	1794	3	C12orf26	12	82872739	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	3182854	82872739	50979156	1172	45905											
ATP2B1	490	broad.mit.edu	37	chr12	90013833	90013833	+	Frame_Shift_Del	DEL	T	T	-													ttcgataacttccatctgaaTttttcaggacagtactcatg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:90013832_90013832AT>A	uc001tbh.3	-	9	1954	c.1773_1773AT>T	c.(1771-1773)aatfs	p.N591fs	ATP2B1_uc001tbg.3_Frame_Shift_Del_p.N591fs|ATP2B1_uc001tbf.3_Frame_Shift_Del_p.N261fs	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	591					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TTCCATCTGAATTTTTCAGGA	0.358													-	90013833	T	-	90013833	7	5	63	1	0	1	0	1	0	0	0	0	1139	1493	52	0	2092	0	ATP2B1	12	90013833	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	7141094	90013833	43838062	1173	45906											
EEA1	8411	broad.mit.edu	37	chr12	93251100	93251100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attccttctttaattcttccGagtaccatttttcttcctaa	2	11	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:93251100G>A	uc001tck.2	-	5	582	c.317C>T	c.(316-318)TCG>TTG	p.S106L		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	106	Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						TAATTCTTCCGAGTACCATTT	0.229													A	93251100	G	A	93251100	3	1	63	1	0	0	0	0	1	0	0	0	4921	1059	37	1	4018	1	EEA1	12	93251100	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3237267	93251100	40600795	1174	45907											
TMPO	7112	broad.mit.edu	37	chr12	98909808	98909808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaccggccgccgctccccGccggcaccaacagcaagggg	13	19	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:98909808G>A	uc001tfj.2	+	1	400	c.163G>A	c.(163-165)GCC>ACC	p.A55T	LOC100128191_uc001tfg.2_RNA|TMPO_uc001tfi.1_Missense_Mutation_p.A55T|TMPO_uc001tfk.2_Missense_Mutation_p.A55T|TMPO_uc001tfl.2_RNA|TMPO_uc001tfh.1_Missense_Mutation_p.A55T	NM_001032283	NP_001027454	P42167	LAP2B_HUMAN	thymopoietin isoform beta	55	Linker.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			ovary(2)	2						GCCGCTCCCCGCCGGCACCAA	0.627													A	98909808	G	A	98909808	3	1	63	1	0	0	0	0	1	0	0	0	16234	1087	38	1	165	1	TMPO	12	98909808	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	5658708	98909808	34942087	1175	45908											
SLC5A8	160728	broad.mit.edu	37	chr12	101588916	101588916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacccccgttgccactaccGcgccccacagatcaaatcct	5	21	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:101588916G>A	uc001thz.3	-	4	884	c.494C>T	c.(493-495)GCG>GTG	p.A165V		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	165	Helical; (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						TGCCACTACCGCGCCCCACAG	0.398													A	101588916	G	A	101588916	3	1	63	1	0	0	0	0	1	0	0	0	14671	1087	38	1	1386	1	SLC5A8	12	101588916	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2679108	101588916	32262979	1176	45909											
MYBPC1	4604	broad.mit.edu	37	chr12	102041875	102041875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatacaactgcttattgtggGgagagagtggaattagaatg	14	3	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:102041875G>A	uc001tii.2	+	12	1170	c.1068G>A	c.(1066-1068)GGG>GGA	p.G356G	MYBPC1_uc001tif.1_Silent_p.G369G|MYBPC1_uc001tig.2_Silent_p.G381G|MYBPC1_uc010svq.1_Silent_p.G343G|MYBPC1_uc001tih.2_Silent_p.G381G|MYBPC1_uc001tij.2_Silent_p.G356G|MYBPC1_uc010svr.1_Silent_p.G356G|MYBPC1_uc010svs.1_Silent_p.G356G|MYBPC1_uc010svt.1_Silent_p.G344G|MYBPC1_uc010svu.1_Silent_p.G337G|MYBPC1_uc001tik.2_Silent_p.G330G	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	356	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						CTTATTGTGGGGAGAGAGTGG	0.353													A	102041875	G	A	102041875	2	1	63	1	0	0	0	0	0	0	0	1	10011	1219	43	4		4	MYBPC1	12	102041875	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	452959	102041875	31810020	1177	45910											
GNPTAB	79158	broad.mit.edu	37	chr12	102164271	102164271	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaatgaaaatattccgaacCcatggtgcatgcctctcgat	7	11	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:102164271C>T	uc001tit.2	-	9	1205	c.1026G>A	c.(1024-1026)TGG>TGA	p.W342*	GNPTAB_uc001tiu.1_Nonsense_Mutation_p.W342*	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	342					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2						TATTCCGAACCCATGGTGCAT	0.458													T	102164271	C	T	102164271	4	4	63	1	0	0	0	0	0	1	0	0	6545	624	22	4	2796	4	GNPTAB	12	102164271	Nonsense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	122396	102164271	31687624	1178	45911											
STAB2	55576	broad.mit.edu	37	chr12	104152955	104152955	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccacctcgccaatgtcagCatgtttttctacaatgacct	5	14	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:104152955C>T	uc001tjw.2	+	65	7338	c.7152C>T	c.(7150-7152)AGC>AGT	p.S2384S	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2384	Extracellular (Potential).|FAS1 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CCAATGTCAGCATGTTTTTCT	0.512													T	104152955	C	T	104152955	2	4	63	1	0	0	0	0	0	0	0	1	15237	709	25	2		2	STAB2	12	104152955	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1988684	104152955	29698940	1179	45912											
GLT8D2	83468	broad.mit.edu	37	chr12	104388188	104388188	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attctgtcatgttggcaacaAtcacaccaggattgaaagag	9	8	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:104388188A>T	uc001tkh.1	-	9	1098	c.692T>A	c.(691-693)ATT>AAT	p.I231N	GLT8D2_uc001tki.1_Missense_Mutation_p.I231N	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	231	Lumenal (Potential).					integral to membrane	transferase activity, transferring glycosyl groups			ovary(1)|skin(1)	2						GTTGGCAACAATCACACCAGG	0.483													T	104388188	A	T	104388188	3	4	63	1	0	0	0	0	1	0	0	0	6470	101	4	5	369	5	GLT8D2	12	104388188	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	235233	104388188	29463707	1180	45913											
SLC41A2	84102	broad.mit.edu	37	chr12	105321865	105321865	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctttggtaattttggggtCacttctacaatagcatcttc	7	9	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:105321865C>T	uc001tla.2	-	1	608	c.441G>A	c.(439-441)GTG>GTA	p.V147V		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	solute carrier family 41, member 2	147	Extracellular.					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			ovary(1)|skin(1)	2						ATTTTGGGGTCACTTCTACAA	0.408													T	105321865	C	T	105321865	2	4	63	1	0	0	0	0	0	0	0	1	14630	813	29	4		4	SLC41A2	12	105321865	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	933677	105321865	28530030	1181	45914											
NUAK1	9891	broad.mit.edu	37	chr12	106460837	106460837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagagtcgctggacagcaCgctgtcatcgctgatgacac	11	11	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:106460837C>T	uc001tlj.1	-	7	3109	c.1729G>A	c.(1729-1731)GTG>ATG	p.V577M		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	577							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						CTGGACAGCACGCTGTCATCG	0.597													T	106460837	C	T	106460837	3	4	63	1	0	0	0	0	1	0	0	0	10712	536	19	1	260	1	NUAK1	12	106460837	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1138972	106460837	27391058	1182	45915											
ASCL4	121549	broad.mit.edu	37	chr12	108169097	108169097	+	Frame_Shift_Del	DEL	C	C	-													cccggactcccgcggagggaCcccctcagggtcgccctgcg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:108169097delC	uc001tmr.2	+	1	936	c.105delC	c.(103-105)GACfs	p.D35fs		NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN	achaete-scute complex-like 4	34					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)	1						CGCGGAGGGACCCCCTCAGGG	0.741													-	108169097	C	-	108169097	7	5	63	1	0	1	0	1	0	0	0	0	1036	506	18	0	107	0	ASCL4	12	108169097	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	1708260	108169097	25682798	1183	45916											
FICD	11153	broad.mit.edu	37	chr12	108912632	108912632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggagacccgctacgccGtgcccgggaagagcctggag	15	14	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:108912632G>A	uc001tmx.1	+	3	903	c.757G>A	c.(757-759)GTG>ATG	p.V253M		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Huntingtin interacting protein E	253					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity				0						CCGCTACGCCGTGCCCGGGAA	0.587													A	108912632	G	A	108912632	3	1	63	1	0	0	0	0	1	0	0	0	5887	1145	40	1	763	1	FICD	12	108912632	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	743535	108912632	24939263	1184	45917											
MYO1H	283446	broad.mit.edu	37	chr12	109826583	109826583	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggattttgtgctattggaCgcgtacaccagcgaatctgc	11	10	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:109826583C>T	uc010sxn.1	+	1	60	c.60C>T	c.(58-60)GAC>GAT	p.D20D		NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0						TGCTATTGGACGCGTACACCA	0.532													T	109826583	C	T	109826583	2	4	63	1	0	0	0	0	0	0	0	1	10075	535	19	1		1	MYO1H	12	109826583	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	913951	109826583	24025312	1185	45918											
TCHP	84260	broad.mit.edu	37	chr12	110344435	110344435	+	Frame_Shift_Del	DEL	A	A	-													ttgggaaatgcagaaagaagAaaaaaaacaggtgtggtatg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:110344434_110344434GA>G	uc001tpn.3	+	4	667	c.514_514GA>G	c.(514-516)gaafs	p.E172fs	TCHP_uc001tpo.1_Non-coding_Transcript|TCHP_uc001tpp.3_Frame_Shift_Del_p.E172fs	NM_001143852	NP_115676	Q9BT92	TCHP_HUMAN	Homo sapiens trichoplein, keratin filament binding (TCHP), transcript variant 2, mRNA.	172	Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GCAGAAAGAAGAAAAAAAACA	0.478													-	110344435	A	-	110344435	7	5	63	1	0	1	0	1	0	0	0	0	15699	246	9	0	529	0	TCHP	12	110344435	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	517852	110344435	23507460	1186	45919											
MYL2	4633	broad.mit.edu	37	chr12	111352095	111352095	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttttcacgttcactcgccCtagggtaggaaacacacact	7	12	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:111352095C>A	uc001try.3	-	4	241	c.170_splice	c.e4-1	p.G57_splice	MYL2_uc001trx.3_Splice_Site_p.G38_splice	NM_000432	NP_000423	P10916	MLRV_HUMAN	slow cardiac myosin regulatory light chain 2						cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			ovary(1)	1						TTCACTCGCCCTAGGGTAGGA	0.418													A	111352095	C	A	111352095	5	1	63	1	0	0	0	0	0	0	1	0	10047	695	24	5	347	5	MYL2	12	111352095	Splice_Site	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1007660	111352095	22499800	1187	45920											
ATXN2	6311	broad.mit.edu	37	chr12	111954046	111954046	+	Frame_Shift_Del	DEL	G	G	-													gggggtctggatggccgcgaGgggggcctggagggcggccg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:111954046delG	uc001tsj.2	-	10	1929	c.1767delC	c.(1765-1767)CCCfs	p.P589fs	ATXN2_uc001tsh.2_Frame_Shift_Del_p.P324fs|ATXN2_uc001tsi.2_Frame_Shift_Del_p.P300fs|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Frame_Shift_Del_p.P324fs	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	589	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						ATGGCCGCGAGGGGGGCCTGG	0.617													-	111954046	G	-	111954046	7	5	63	1	0	1	0	1	0	0	0	0	1211	987	35	0	2238	0	ATXN2	12	111954046	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	601951	111954046	21897849	1188	45921											
ACAD10	80724	broad.mit.edu	37	chr12	112140078	112140079	+	Frame_Shift_Ins	INS	-	-	T													cagaaataacagcagagggtINStttttacgagaatttgggag							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:112140077_112140078G>GT	uc009zvx.3	+	2	499_500	c.299_300G>GT	c.(298-300)ggtfs	p.G100fs	ACAD10_uc009zvw.2_Frame_Shift_Ins_p.G100fs|ACAD10_uc001tso.4_Frame_Shift_Ins_p.G100fs|ACAD10_uc001tsp.3_Frame_Shift_Ins_p.G100fs|ACAD10_uc001tsq.3_Frame_Shift_Ins_p.G100fs	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	100							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						ACAGCAGAGGGTTTTTTACGAG	0.401													T	112140079	-	T	112140078	7	5	63	1	0	1	1	0	0	0	0	0	108	1712	60	0	306	0	ACAD10	12	112140078	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	186032	112140078	21711817	1189	45922											
ACAD10	80724	broad.mit.edu	37	chr12	112184963	112184963	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggaggggaaagcccgCtcctgttttgctatgaccga	13	11	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:112184963C>T	uc001tsq.2	+	15	2567	c.2367C>T	c.(2365-2367)CGC>CGT	p.R789R	ACAD10_uc001tsp.2_Silent_p.R789R|ACAD10_uc009zvx.2_Silent_p.R820R|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	789							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						GGAAAGCCCGCTCCTGTTTTG	0.642													T	112184963	C	T	112184963	2	4	63	1	0	0	0	0	0	0	0	1	108	784	28	2		2	ACAD10	12	112184963	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	44885	112184963	21666932	1190	45923											
ALDH2	217	broad.mit.edu	37	chr12	112221025	112221025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgggctcaccttggcgcCgcatggacgcatcacacagg	13	14	2	0	rs140919090	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:112221025C>T	uc001tst.2	+	3	724	c.283C>T	c.(283-285)CGC>TGC	p.R95C	ALDH2_uc010syi.1_Intron|ALDH2_uc009zvy.2_Missense_Mutation_p.R95C	NM_000690	NP_000681	P05091	ALDH2_HUMAN	mitochondrial aldehyde dehydrogenase 2	95					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase|electron carrier activity			skin(2)|ovary(1)|central_nervous_system(1)	4					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	ACCTTGGCGCCGCATGGACGC	0.632			T	HMGA2	leiomyoma								T	112221025	C	T	112221025	3	4	63	1	0	0	0	0	1	0	0	0	496	652	23	1	293	1	ALDH2	12	112221025	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	36062	112221025	21630870	1191	45924											
MAPKAPK5	8550	broad.mit.edu	37	chr12	112308145	112308145	+	Frame_Shift_Del	DEL	T	T	-													cctcaagcctgaaaatctgcTttttaaggataactctttgg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:112308145delT	uc001tta.2	+	6	723	c.464delT	c.(463-465)CTTfs	p.L155fs	MAPKAPK5_uc001tsz.2_Frame_Shift_Del_p.L155fs|MAPKAPK5_uc001ttb.2_Frame_Shift_Del_p.L88fs	NM_139078	NP_620777	Q8IW41	MAPK5_HUMAN	MAP kinase-activated protein kinase 5 isoform 2	155	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)	3						GAAAATCTGCTTTTTAAGGAT	0.423													-	112308145	T	-	112308145	7	5	63	1	0	1	0	1	0	0	0	0	9291	1609	56	0	486	0	MAPKAPK5	12	112308145	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	87120	112308145	21543750	1192	45925											
ERP29	10961	broad.mit.edu	37	chr12	112457688	112457688	+	Frame_Shift_Del	DEL	G	G	-													gatctcttggtggcagaggtGgggatctcaggtatggacaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:112457687_112457687TG>T	uc001ttk.1	+	1	390	c.272_272TG>T	c.(271-273)gtgfs	p.V91fs	ERP29_uc001ttl.1_Intron	NM_006817	NP_006808	P30040	ERP29_HUMAN	Homo sapiens endoplasmic reticulum protein 29 (ERP29), transcript variant 1, mRNA.	91					intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						GTGGCAGAGGTGGGGATCTCA	0.542													-	112457688	G	-	112457688	7	5	63	1	0	1	0	1	0	0	0	0	5242	1335	47	0	279	0	ERP29	12	112457688	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	149543	112457688	21394207	1193	45926											
TRAFD1	10906	broad.mit.edu	37	chr12	112590274	112590274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcccgggtcacccctgcaGctgccaactaccgcagcaga	9	17	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:112590274G>A	uc001ttp.2	+	11	1749	c.1663G>A	c.(1663-1665)GCT>ACT	p.A555T	TRAFD1_uc001tto.2_Missense_Mutation_p.A555T	NM_006700	NP_006691	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	555					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding				0						CACCCCTGCAGCTGCCAACTA	0.542													A	112590274	G	A	112590274	3	1	63	1	0	0	0	0	1	0	0	0	16444	971	34	2	1701	2	TRAFD1	12	112590274	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	132586	112590274	21261621	1194	45927											
C12orf51	283450	broad.mit.edu	37	chr12	112622703	112622703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgagcagggtgagtgcgCggtggaaccacagcatgtcc	16	9	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:112622703C>T	uc009zwc.2	-	54	8819	c.8801G>A	c.(8800-8802)CGC>CAC	p.R2934H		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						GGTGAGTGCGCGGTGGAACCA	0.677													T	112622703	C	T	112622703	3	4	63	1	0	0	0	0	1	0	0	0	1696	768	27	1	3253	1	C12orf51	12	112622703	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	32429	112622703	21229192	1195	45928											
C12orf51	283450	broad.mit.edu	37	chr12	112688019	112688019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatcatgattcctggaggCagtctgatccgaggcagatc	11	9	2	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:112688019C>T	uc009zwc.2	-	18	2631	c.2613G>A	c.(2611-2613)CTG>CTA	p.L871L	C12orf51_uc010syk.1_Silent_p.L693L|C12orf51_uc001tts.2_Silent_p.L684L|C12orf51_uc001ttt.3_Silent_p.L682L	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						TTCCTGGAGGCAGTCTGATCC	0.458													T	112688019	C	T	112688019	2	4	63	1	0	0	0	0	0	0	0	1	1696	697	25	2		2	C12orf51	12	112688019	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	65316	112688019	21163876	1196	45929											
OAS1	4938	broad.mit.edu	37	chr12	113346491	113346492	+	Frame_Shift_Del	DEL	AG	AG	-													gacagctggaagcctgtcaaAgagagagagcattttccgtg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:113346490_113346491AAG>A	uc001tuc.3	+	1	436_437	c.330_331AAG>A	c.(328-333)caaagafs	p.Q110fs	OAS1_uc010syn.2_Frame_Shift_Del_p.Q109fs|OAS1_uc010syo.2_Frame_Shift_Del_p.Q109fs|OAS1_uc001tub.3_Frame_Shift_Del_p.Q110fs|OAS1_uc001tud.3_Frame_Shift_Del_p.Q110fs|OAS1_uc009zwf.3_Frame_Shift_Del_p.Q109fs	NM_001032409	NP_001027581	P00973	OAS1_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA.	110	Necessary for binding to dsRNA.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						AAGCCTGTCAAAGAGAGAGAGC	0.554													-	113346492	AG	-	113346491	7	5	63	1	0	1	0	1	0	0	0	0	10799	64	3	0	337	0	OAS1	12	113346491	Frame_Shift_Del	DEL	AG	TCGA-BR-8078-01A-11D-2340-08	658472	113346491	20505404	1197	45930											
DDX54	79039	broad.mit.edu	37	chr12	113600758	113600758	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttgagctgctgccggcccCtcgtcaggttctgggcttca	12	14	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:113600758C>A	uc001tup.2	-	17	2202	c.2174G>T	c.(2173-2175)AGG>ATG	p.R725M	DDX54_uc001tuq.3_Missense_Mutation_p.R725M	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	725					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						CTGCCGGCCCCTCGTCAGGTT	0.652													A	113600758	C	A	113600758	3	1	63	1	0	0	0	0	1	0	0	0	4372	681	24	5	490	5	DDX54	12	113600758	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	254267	113600758	20251137	1198	45931											
IQCD	115811	broad.mit.edu	37	chr12	113645381	113645381	+	Frame_Shift_Del	DEL	T	T	-													tccatgggactagtgagtagTttttcaaacaggaaaccacg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:113645381delT	uc001tuv.1	-	2	1013	c.591delA	c.(589-591)AAAfs	p.K197fs	IQCD_uc001tuu.2_Frame_Shift_Del_p.K197fs	NM_138451	NP_612460	Q96DY2	IQCD_HUMAN	IQ motif containing D	197										ovary(1)	1						TAGTGAGTAGTTTTTCAAACA	0.443													-	113645381	T	-	113645381	7	5	63	1	0	1	0	1	0	0	0	0	7805	1722	60	0	460	0	IQCD	12	113645381	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	44623	113645381	20206514	1199	45932											
RBM19	9904	broad.mit.edu	37	chr12	114296674	114296674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtcatcttctttggcagGcggaccgtcttcaactcccc	8	16	5	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:114296674G>A	uc009zwi.2	-	22	2730	c.2586C>T	c.(2584-2586)CGC>CGT	p.R862R	RBM19_uc001tvn.3_Silent_p.R862R|RBM19_uc001tvm.2_Silent_p.R862R	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	862	RRM 6.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCTTTGGCAGGCGGACCGTCT	0.547													A	114296674	G	A	114296674	2	1	63	1	0	0	0	0	0	0	0	1	13121	1190	42	2		2	RBM19	12	114296674	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	651293	114296674	19555221	1200	45933											
MED13L	23389	broad.mit.edu	37	chr12	116422119	116422119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccacagtttttcccacgCgcatgatcccgtcacgtagc	9	15	1	1	rs140136426		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:116422119C>T	uc001tvw.2	-	20	4452	c.4397G>A	c.(4396-4398)CGC>CAC	p.R1466H		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1466					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTTTCCCACGCGCATGATCCC	0.488													T	116422119	C	T	116422119	3	4	63	1	0	0	0	0	1	0	0	0	9431	768	27	1	2283	1	MED13L	12	116422119	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2125445	116422119	17429776	1201	45934											
HSPB8	26353	broad.mit.edu	37	chr12	119617377	119617377	+	Frame_Shift_Del	DEL	C	C	-													ggtgcctgccgagggcaggaCccccccacccttccctgggg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:119617376_119617376AC>A	uc001txb.3	+	0	782	c.259_259AC>A	c.(259-261)accfs	p.T87fs		NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN	Homo sapiens heat shock 22kDa protein 8 (HSPB8), mRNA.	87					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGAGGGCAGGACCCCCCCACC	0.647													-	119617377	C	-	119617377	7	5	63	1	0	1	0	1	0	0	0	0	7423	507	18	0	262	0	HSPB8	12	119617377	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	3195258	119617377	14234518	1202	45935											
CIT	11113	broad.mit.edu	37	chr12	120189988	120189988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgactcgcgctcctgcaggGagagctgtagctctgtgagc	15	11	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:120189988G>A	uc001txi.1	-	22	2698	c.2645C>T	c.(2644-2646)TCC>TTC	p.S882F	CIT_uc001txh.1_Missense_Mutation_p.S416F|CIT_uc001txj.1_Missense_Mutation_p.S924F	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	882	Potential.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCCTGCAGGGAGAGCTGTAG	0.527													A	120189988	G	A	120189988	3	1	63	1	0	0	0	0	1	0	0	0	3438	1174	41	4	3542	4	CIT	12	120189988	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	572611	120189988	13661907	1203	45936											
ANAPC5	51433	broad.mit.edu	37	chr12	121757618	121757618	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttgatcacatagcatccAtaactagtaagaaaaaaaaa	4	6	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:121757618A>G	uc001uag.2	-	13	1641	c.1519T>C	c.(1519-1521)TGG>CGG	p.W507R	ANAPC5_uc010szu.1_Missense_Mutation_p.W173R|ANAPC5_uc001uae.2_Missense_Mutation_p.W71R|ANAPC5_uc010szv.1_Missense_Mutation_p.W109R|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Missense_Mutation_p.W395R|ANAPC5_uc001uai.1_Missense_Mutation_p.W109R	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	anaphase-promoting complex subunit 5 isoform a	507					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			skin(3)|breast(2)|kidney(1)	6	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CATAGCATCCATAACTAGTAA	0.318													G	121757618	A	G	121757618	3	3	63	1	0	0	0	0	1	0	0	0	605	217	8	3	768	3	ANAPC5	12	121757618	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	1567630	121757618	12094277	1204	45937											
KDM2B	84678	broad.mit.edu	37	chr12	121958808	121958808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgcgtcctgtcctcgatctCgtagatccgcagctgcatgg	11	15	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:121958808C>T	uc001uat.2	-	9	1131	c.1027G>A	c.(1027-1029)GAG>AAG	p.E343K	KDM2B_uc001uas.2_Missense_Mutation_p.E312K|KDM2B_uc001uau.2_Missense_Mutation_p.E226K|KDM2B_uc001uav.3_Intron	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	343	JmjC.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						TCCTCGATCTCGTAGATCCGC	0.607													T	121958808	C	T	121958808	3	4	63	1	0	0	0	0	1	0	0	0	8125	893	31	1	3095	1	KDM2B	12	121958808	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	201190	121958808	11893087	1205	45938											
MORN3	283385	broad.mit.edu	37	chr12	122090652	122090653	+	Frame_Shift_Del	DEL	CT	CT	-													acctggcatcaatctccttcCtctgtcttcctgaacatggc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:122090651_122090652CCT>C	uc001uax.3	-	4	882_883	c.711_712AGG>G	c.(709-714)gaggaafs	p.E237fs	MORN3_uc001uay.3_Non-coding_Transcript	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	Homo sapiens MORN repeat containing 3 (MORN3), mRNA.	237										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CAATCTCCTTCCTCTGTCTTCC	0.559													-	122090653	CT	-	122090652	7	5	63	1	0	1	0	1	0	0	0	0	9709	680	24	0	15	0	MORN3	12	122090652	Frame_Shift_Del	DEL	CT	TCGA-BR-8078-01A-11D-2340-08	131844	122090652	11761243	1206	45939											
MORN3	283385	broad.mit.edu	37	chr12	122107246	122107246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccggagtcccactcaccGtgtttcacgttgtccttcca	8	16	2	0	rs147677521	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:122107246G>A	uc001uax.2	-	1	315	c.144C>T	c.(142-144)CAC>CAT	p.H48H	MORN3_uc001uay.2_RNA	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	48	MORN 1.										0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CCCACTCACCGTGTTTCACGT	0.637											OREG0022205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	122107246	G	A	122107246	2	1	63	1	0	0	0	0	0	0	0	1	9709	1159	40	1		1	MORN3	12	122107246	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	16594	122107246	11744649	1207	45940											
BCL7A	605	broad.mit.edu	37	chr12	122481866	122481866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcagcaactccagccccGctccagagcccaactcggct	8	19	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:122481866G>A	uc001ubp.2	+	4	483	c.346G>A	c.(346-348)GCT>ACT	p.A116T	BCL7A_uc001ubo.2_Missense_Mutation_p.A116T	NM_001024808	NP_001019979	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A isoform b	116					negative regulation of transcription, DNA-dependent					ovary(1)|lung(1)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		CTCCAGCCCCGCTCCAGAGCC	0.612			T	MYC	BNHL								A	122481866	G	A	122481866	3	1	63	1	0	0	0	0	1	0	0	0	1378	1087	38	1	360	1	BCL7A	12	122481866	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	374620	122481866	11370029	1208	45941											
BCL7A	605	broad.mit.edu	37	chr12	122492808	122492808	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggagactcgggtctggcCgcagagacgtctgcaatctc	13	12	4	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:122492808C>T	uc001ubp.2	+	5	674	c.537C>T	c.(535-537)GCC>GCT	p.A179A	BCL7A_uc001ubo.2_Silent_p.A179A	NM_001024808	NP_001019979	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A isoform b	179					negative regulation of transcription, DNA-dependent					ovary(1)|lung(1)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		CGGGTCTGGCCGCAGAGACGT	0.572			T	MYC	BNHL						OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	122492808	C	T	122492808	2	4	63	1	0	0	0	0	0	0	0	1	1378	639	23	1		1	BCL7A	12	122492808	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	10942	122492808	11359087	1209	45942											
IL31	386653	broad.mit.edu	37	chr12	122658459	122658459	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtacatcatcacttggtcGtagtaaacggacgggcaacg	11	10	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:122658459G>A	uc001ubv.2	-	2	124	c.97C>T	c.(97-99)CGA>TGA	p.R33*	LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron	NM_001014336	NP_001014358	Q6EBC2	IL31_HUMAN	interleukin 31 precursor	33						extracellular space	cytokine activity			central_nervous_system(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCACTTGGTCGTAGTAAACGG	0.507													A	122658459	G	A	122658459	4	1	63	1	0	0	0	0	0	1	0	0	7690	1153	40	1	405	1	IL31	12	122658459	Nonsense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	165651	122658459	11193436	1210	45943											
CLIP1	6249	broad.mit.edu	37	chr12	122848546	122848546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaccttgttccagcaacagCgccatcattcttcccaagtg	6	14	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:122848546C>T	uc001ucg.1	-	3	872	c.766G>A	c.(766-768)GCT>ACT	p.A256T	CLIP1_uc001uch.1_Missense_Mutation_p.A256T|CLIP1_uc001uci.1_Missense_Mutation_p.A256T|CLIP1_uc001ucj.1_5'UTR|CLIP1_uc010tae.1_Missense_Mutation_p.A256T	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	256	CAP-Gly 2.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CCAGCAACAGCGCCATCATTC	0.522													T	122848546	C	T	122848546	3	4	63	1	0	0	0	0	1	0	0	0	3532	768	27	1	3605	1	CLIP1	12	122848546	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	190087	122848546	11003349	1211	45944											
GPR109B	8843	broad.mit.edu	37	chr12	123201180	123201180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccaaagataaactccagCcccaacaccggcggcaacac	7	17	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:123201180C>T	uc001ucy.3	-	1	260	c.105G>A	c.(103-105)GGG>GGA	p.G35G	GPR81_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	G protein-coupled receptor 109B	35	Helical; Name=1; (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	TAAACTCCAGCCCCAACACCG	0.507													T	123201180	C	T	123201180	2	4	63	1	0	0	0	0	0	0	0	1	6626	726	26	2		2	GPR109B	12	123201180	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	352634	123201180	10650715	1212	45945											
OGFOD2	79676	broad.mit.edu	37	chr12	123463113	123463113	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaacaccatgaacaactaCggggtgggtgaggcctggcc	13	13	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:123463113C>T	uc001uea.1	+	5	549	c.528C>T	c.(526-528)TAC>TAT	p.Y176Y	OGFOD2_uc001uds.1_Silent_p.Y12Y|OGFOD2_uc001udt.1_Silent_p.Y12Y|OGFOD2_uc001udu.1_Silent_p.Y12Y|OGFOD2_uc001udv.1_Silent_p.Y12Y|OGFOD2_uc009zxs.1_Silent_p.Y12Y|OGFOD2_uc001udw.1_Silent_p.Y12Y|OGFOD2_uc001udx.1_Silent_p.Y12Y|OGFOD2_uc001udy.1_Silent_p.Y12Y|OGFOD2_uc001udz.1_Silent_p.Y116Y|OGFOD2_uc010tak.1_3'UTR|OGFOD2_uc001ueb.1_Silent_p.Y12Y|ARL6IP4_uc001uec.2_5'Flank|ARL6IP4_uc001ued.2_5'Flank|ARL6IP4_uc001uee.2_5'Flank|ARL6IP4_uc001uef.2_5'Flank|ARL6IP4_uc001ueg.2_5'Flank|ARL6IP4_uc009zxt.2_5'Flank|ARL6IP4_uc001ueh.2_5'Flank|ARL6IP4_uc001uei.2_5'Flank	NM_024623	NP_078899	Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase	176							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			pancreas(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	TGAACAACTACGGGGTGGGTG	0.637													T	123463113	C	T	123463113	2	4	63	1	0	0	0	0	0	0	0	1	10842	547	19	1		1	OGFOD2	12	123463113	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	261933	123463113	10388782	1213	45946											
C12orf65	91574	broad.mit.edu	37	chr12	123738251	123738251	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtttatttcattttccTacaccactgacccgaatatg	7	10	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:123738251T>G	uc001uen.2	+	2	296	c.30T>G	c.(28-30)CCT>CCG	p.P10P	C12orf65_uc001ueo.2_RNA|C12orf65_uc010tan.1_Silent_p.P10P	NM_152269	NP_689482	Q9H3J6	CL065_HUMAN	hypothetical protein LOC91574	10						mitochondrion	translation release factor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		TTCATTTTCCTACACCACTGA	0.532													G	123738251	T	G	123738251	2	3	63	1	0	0	0	0	0	0	0	1	1708	1509	53	5		5	C12orf65	12	123738251	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	275138	123738251	10113644	1214	45947											
DDX55	57696	broad.mit.edu	37	chr12	124102357	124102357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattggccacgggggcagcGctctggtgttcctcctgccc	14	15	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:124102357G>A	uc001ufi.2	+	11	1126	c.1102G>A	c.(1102-1104)GCT>ACT	p.A368T	DDX55_uc001ufh.2_Missense_Mutation_p.A221T|DDX55_uc001ufj.1_Missense_Mutation_p.A221T|DDX55_uc001ufk.2_Missense_Mutation_p.A221T|DDX55_uc001ufl.2_5'Flank	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	368	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CGGGGGCAGCGCTCTGGTGTT	0.413													A	124102357	G	A	124102357	3	1	63	1	0	0	0	0	1	0	0	0	4373	1087	38	1	1144	1	DDX55	12	124102357	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	364106	124102357	9749538	1215	45948											
NCOR2	9612	broad.mit.edu	37	chr12	124832801	124832802	+	Frame_Shift_Ins	INS	-	-	G													ttgggggcggccgtctcatgINSggggggtcctgagctgcttc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:124832800_124832801T>TG	uc021rga.1	-	28	4042_4043	c.3925_3926A>CA	c.(3925-3927)catfs	p.H1309fs	NCOR2_uc021rgb.1_Frame_Shift_Ins_p.H1293fs|NCOR2_uc010tbb.2_Frame_Shift_Ins_p.H1302fs|NCOR2_uc010tbc.2_Frame_Shift_Ins_p.H1292fs|NCOR2_uc021rgc.1_Frame_Shift_Ins_p.H1292fs|NCOR2_uc010tba.2_Frame_Shift_Ins_p.H1310fs|NCOR2_uc001ugj.1_Frame_Shift_Ins_p.H1310fs	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1310					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCCGTCTCATGGGGGGGTCCT	0.629											OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	124832802	-	G	124832801	7	5	63	1	0	1	1	0	0	0	0	0	10236	1348	47	0	3716	0	NCOR2	12	124832801	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	730444	124832801	9019094	1216	45949											
NCOR2	9612	broad.mit.edu	37	chr12	124870328	124870328	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaagatctcatcgaggTtctgcctcttcttgtagttg	10	10	4	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:124870328T>C	uc010tba.1	-	17	2099	c.1982A>G	c.(1981-1983)AAC>AGC	p.N661S	NCOR2_uc010tay.1_Missense_Mutation_p.N661S|NCOR2_uc010taz.1_Missense_Mutation_p.N661S|NCOR2_uc010tbb.1_Missense_Mutation_p.N661S|NCOR2_uc010tbc.1_Missense_Mutation_p.N660S|NCOR2_uc001ugj.1_Missense_Mutation_p.N661S	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	661	SANT 2.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTCATCGAGGTTCTGCCTCTT	0.592													C	124870328	T	C	124870328	3	2	63	1	0	0	0	0	1	0	0	0	10236	1725	60	3	5710	3	NCOR2	12	124870328	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	37527	124870328	8981567	1217	45950											
BRI3BP	140707	broad.mit.edu	37	chr12	125509729	125509729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcctgttttccatgtcctGcgtgtacatcctgcacaagt	8	13	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:125509729G>A	uc001uha.1	+	3	652	c.509G>A	c.(508-510)TGC>TAC	p.C170Y		NM_080626	NP_542193	Q8WY22	BRI3B_HUMAN	BRI3-binding protein	170						integral to membrane|mitochondrial outer membrane				ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		TCCATGTCCTGCGTGTACATC	0.612													A	125509729	G	A	125509729	3	1	63	1	0	0	0	0	1	0	0	0	1513	1319	46	2	519	2	BRI3BP	12	125509729	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	639401	125509729	8342166	1218	45951											
TMEM132B	114795	broad.mit.edu	37	chr12	125834260	125834260	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggagctcctgttgacatcTacagcctttggaaacatgga	10	10	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:125834260T>C	uc001uhe.1	+	2	323	c.315T>C	c.(313-315)TCT>TCC	p.S105S		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	105	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGTTGACATCTACAGCCTTTG	0.473													C	125834260	T	C	125834260	2	2	63	1	0	0	0	0	0	0	0	1	16043	1509	53	3		3	TMEM132B	12	125834260	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	324531	125834260	8017635	1219	45952											
GPR133	283383	broad.mit.edu	37	chr12	131620613	131620613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcagtggccgtgctgctgCccatcctgggtacctcgtgg	15	13	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:131620613C>T	uc001uit.3	+	22	2858	c.2299C>T	c.(2299-2301)CCC>TCC	p.P767S	GPR133_uc010tbm.1_Missense_Mutation_p.P799S|GPR133_uc009zyo.2_Missense_Mutation_p.P49S|GPR133_uc009zyp.2_RNA	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	767	Helical; Name=6; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CGTGCTGCTGCCCATCCTGGG	0.597													T	131620613	C	T	131620613	3	4	63	1	0	0	0	0	1	0	0	0	6643	739	26	2	2385	2	GPR133	12	131620613	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	5786353	131620613	2231282	1220	45953											
SFRS8	6433	broad.mit.edu	37	chr12	132211522	132211522	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacaatgaagatgatgatgaTgaagaagatgggaattacct	12	3	0	8			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:132211522T>A	uc001uja.1	+	6	1010	c.870T>A	c.(868-870)GAT>GAA	p.D290E	SFRS8_uc010tbn.1_Missense_Mutation_p.D290E|SFRS8_uc001ujb.1_Missense_Mutation_p.D83E|SFRS8_uc001uiz.1_Missense_Mutation_p.D164E	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	290	Poly-Asp.				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		ATGATGATGATGAAGAAGATG	0.358													A	132211522	T	A	132211522	3	1	63	1	0	0	0	0	1	0	0	0	14183	1461	51	5	892	5	SFRS8	12	132211522	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	590909	132211522	1640373	1221	45954											
ULK1	8408	broad.mit.edu	37	chr12	132398927	132398927	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgttctccagcagcaggtgCggcgcctctgtccccatccc	10	19	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:132398927C>T	uc001uje.2	+	16	1546	c.1278C>T	c.(1276-1278)TGC>TGT	p.C426C		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	426					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCAGCAGGTGCGGCGCCTCTG	0.627													T	132398927	C	T	132398927	2	4	63	1	0	0	0	0	0	0	0	1	16972	776	27	1		1	ULK1	12	132398927	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	187405	132398927	1452968	1222	45955											
PUS1	80324	broad.mit.edu	37	chr12	132416772	132416772	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagatgacttggtgtccgCcctcgtccggtcaggctgta	13	11	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:132416772C>A	uc001ujf.2	+	3	835	c.356C>A	c.(355-357)GCC>GAC	p.A119D	PUS1_uc001ujg.2_Missense_Mutation_p.A91D|PUS1_uc001ujh.2_Missense_Mutation_p.A91D|PUS1_uc001uji.2_Missense_Mutation_p.A66D	NM_025215	NP_079491	Q9Y606	TRUA_HUMAN	pseudouridine synthase 1 isoform 1	119						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		TTGGTGTCCGCCCTCGTCCGG	0.448													A	132416772	C	A	132416772	3	1	63	1	0	0	0	0	1	0	0	0	12830	739	26	5	366	5	PUS1	12	132416772	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	17845	132416772	1435123	1223	45956											
PUS1	80324	broad.mit.edu	37	chr12	132426072	132426072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaggatcccagtgcctgCcgctacatcctggagatgta	11	14	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:132426072C>T	uc001ujf.2	+	5	1259	c.780C>T	c.(778-780)TGC>TGT	p.C260C	PUS1_uc001ujg.2_Silent_p.C232C|PUS1_uc001ujh.2_Silent_p.C232C|PUS1_uc001uji.2_Silent_p.C207C	NM_025215	NP_079491	Q9Y606	TRUA_HUMAN	pseudouridine synthase 1 isoform 1	260						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CCAGTGCCTGCCGCTACATCC	0.592													T	132426072	C	T	132426072	2	4	63	1	0	0	0	0	0	0	0	1	12830	747	26	2		2	PUS1	12	132426072	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	9300	132426072	1425823	1224	45957											
EP400	57634	broad.mit.edu	37	chr12	132504671	132504671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcactcacccgccccggaCggcagcccccaccacggcct	9	23	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:132504671C>T	uc001ujn.2	+	21	4390	c.4355C>T	c.(4354-4356)ACG>ATG	p.T1452M	EP400_uc001ujl.2_Missense_Mutation_p.T1451M|EP400_uc001ujm.2_Missense_Mutation_p.T1452M	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1488					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCGCCCCGGACGGCAGCCCCC	0.652													T	132504671	C	T	132504671	3	4	63	1	0	0	0	0	1	0	0	0	5149	536	19	1	4434	1	EP400	12	132504671	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	78599	132504671	1347224	1225	45958											
NOC4L	79050	broad.mit.edu	37	chr12	132632496	132632496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccccgccgggagcccacCgtctccagcttctatgtgaa	10	17	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:132632496C>T	uc001ujz.1	+	6	716	c.675C>T	c.(673-675)ACC>ACT	p.T225T		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog	225					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		GGGAGCCCACCGTCTCCAGCT	0.672													T	132632496	C	T	132632496	2	4	63	1	0	0	0	0	0	0	0	1	10515	639	23	1		1	NOC4L	12	132632496	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	127825	132632496	1219399	1226	45959											
ZNF10	7556	broad.mit.edu	37	chr12	133733401	133733401	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataaatgtaatcaatgtggCattatcttcagccagaactc	6	8	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:133733401C>T	uc009zzb.2	+	5	2016	c.1569C>T	c.(1567-1569)GGC>GGT	p.G523G	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Silent_p.G523G	NM_015394	NP_056209	P21506	ZNF10_HUMAN	zinc finger protein 10	523	C2H2-type 11; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ATCAATGTGGCATTATCTTCA	0.408													T	133733401	C	T	133733401	2	4	63	1	0	0	0	0	0	0	0	1	17709	697	25	2		2	ZNF10	12	133733401	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1100905	133733401	118494	1227	45960											
XPO4	64328	broad.mit.edu	37	chr13	21384005	21384005	+	Frame_Shift_Del	DEL	A	A	-													acttgaactgcatgttgggtAaaaaagcctttatggaaatg					rs35001993		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:21384004_21384004TA>T	uc001unq.4	-	9	1312	c.1276_1276TA>A	c.(1276-1278)accfs	p.T426fs		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	426					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GCATGTTGGGTAAAAAAGCCT	0.363													-	21384005	A	-	21384005	7	5	63	1	0	1	0	1	0	0	0	0	17443	359	13	0	2236	0	XPO4	13	21384005	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08		21384005	93785873	1228	45961											
SACS	26278	broad.mit.edu	37	chr13	23911843	23911843	+	Frame_Shift_Del	DEL	A	A	-													atttggaaaaaacacttcagAaaaaaactgtttctctgaaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:23911842_23911842GA>G	uc001uon.2	-	9	6762	c.6173_6173TC>C	c.(6172-6174)tctfs	p.S2058fs	SACS_uc001uoo.2_Frame_Shift_Del_p.S1911fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2058					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAACACTTCAGAAAAAAACTG	0.333													-	23911843	A	-	23911843	7	5	63	1	0	1	0	1	0	0	0	0	13804	246	9	0	7571	0	SACS	13	23911843	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	2527838	23911843	91258035	1229	45962											
PARP4	143	broad.mit.edu	37	chr13	25030500	25030500	+	Frame_Shift_Del	DEL	T	T	-													tcgctttctttttctggatgTttttcaacccacattcttgg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:25030499_25030499GT>G	uc001upl.3	-	20	2648	c.2542_2542AC>C	c.(2542-2544)catfs	p.H848fs	PARP4_uc010tdc.2_Frame_Shift_Del_p.H848fs	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	848					DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TTTTCTGGATGTTTTTCAACC	0.393													-	25030500	T	-	25030500	7	5	63	1	0	1	0	1	0	0	0	0	11463	1722	60	0	2689	0	PARP4	13	25030500	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	1118657	25030500	90139378	1230	45963											
USPL1	10208	broad.mit.edu	37	chr13	31233355	31233355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctgacaaataatgcctgCgttagaacattaaacttgga	7	8	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:31233355C>T	uc001utc.2	+	9	3573	c.3141C>T	c.(3139-3141)TGC>TGT	p.C1047C	USPL1_uc001utd.2_Silent_p.C718C|USPL1_uc001ute.1_Silent_p.C718C	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	1047					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(2)|skin(1)	3		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		ATAATGCCTGCGTTAGAACAT	0.398													T	31233355	C	T	31233355	2	4	63	1	0	0	0	0	0	0	0	1	17089	776	27	1		1	USPL1	13	31233355	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	6202855	31233355	83936523	1231	45964											
USPL1	10208	broad.mit.edu	37	chr13	31233466	31233466	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acattagacctacctcatttCgatgaatatctgtttgagaa	6	8	2	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:31233466C>T	uc001utc.2	+	9	3684	c.3252C>T	c.(3250-3252)TTC>TTT	p.F1084F	USPL1_uc001utd.2_Silent_p.F755F|USPL1_uc001ute.1_Silent_p.F755F	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	1084					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(2)|skin(1)	3		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TACCTCATTTCGATGAATATC	0.299													T	31233466	C	T	31233466	2	4	63	1	0	0	0	0	0	0	0	1	17089	883	31	1		1	USPL1	13	31233466	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	111	31233466	83936412	1232	45965											
C13orf33	84935	broad.mit.edu	37	chr13	31480852	31480852	+	Frame_Shift_Del	DEL	G	G	-													cggggagccggcggcggcgcGggggggcttcaacgtcttcg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:31480852delG	uc001uth.3	+	1	541	c.200delG	c.(199-201)CGGfs	p.R67fs	uc001utg.1_Intron	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	hypothetical protein LOC84935	67											0		Lung SC(185;0.0281)		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)		gcggcggcgcgggggggcTTC	0.582													-	31480852	G	-	31480852	7	5	63	1	0	1	0	1	0	0	0	0	1727	1116	39	0	202	0	C13orf33	13	31480852	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	247386	31480852	83689026	1233	45966											
C13orf33	84935	broad.mit.edu	37	chr13	31480912	31480912	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacgggcagctctaccgccTcagcagctacatcaagaggt	11	14	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:31480912T>G	uc001uth.3	+	1	601	c.260T>G	c.(259-261)CTC>CGC	p.L87R	uc001utg.1_Intron	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	hypothetical protein LOC84935	87											0		Lung SC(185;0.0281)		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)		CTCTACCGCCTCAGCAGCTAC	0.587													G	31480912	T	G	31480912	3	3	63	1	0	0	0	0	1	0	0	0	1727	1551	54	5	262	5	C13orf33	13	31480912	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	60	31480912	83688966	1234	45967											
BRCA2	675	broad.mit.edu	37	chr13	32953633	32953634	+	Frame_Shift_Ins	INS	-	-	A													tgcgtattgtaagctattcaINSaaaaaagaaaaagattcagg					rs80359732		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:32953632_32953633C>CA	uc001uub.1	+	21	9160_9161	c.8933_8934C>CA	c.(8932-8934)tcafs	p.S2978fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2978					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding	p.Y2977*(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTAAGCTATTCAAAAAAAGAAA	0.322			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			A	32953634	-	A	32953633	7	5	63	1	0	1	1	0	0	0	0	0	1499	117	5	0	9016	0	BRCA2	13	32953633	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1472721	32953633	82216245	1235	45968											
BRCA2	675	broad.mit.edu	37	chr13	32954272	32954273	+	Frame_Shift_Ins	INS	-	-	A													gatttgtcgtttctgttgtgINSaaaaaaacaggtaatgcaca					rs80359190		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:32954272_32954273insA	uc001uub.1	+	24	9473_9474	c.9246_9247insA	c.(9244-9249)GTGAAAfs	p.V3082fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3082_3083					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTTCTGTTGTGAAAAAAACAGG	0.351			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			A	32954273	-	A	32954272	7	5	63	1	0	1	1	0	0	0	0	0	1499	1277	45	0	9336	0	BRCA2	13	32954272	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	639	32954272	82215606	1236	45969	173	2									
BRCA2	675	broad.mit.edu	37	chr13	32954273	32954274	+	Frame_Shift_Ins	INS	-	-	A													atttgtcgtttctgttgtgaINSaaaaaacaggtaatgcacaa					rs80359752		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:32954272_32954273G>GA	uc001uub.1	+	23	9473_9474	c.9246_9247G>GA	c.(9244-9249)gtgaaafs	p.V3082fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	3082					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTTCTGTTGTGAAAAAAACAGG	0.351			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			A	32954274	-	A	32954273	7	5	63	1	0	1	1	0	0	0	0	0	1499	247	9	0	9337	0	BRCA2	13	32954273	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1	32954273	82215605	1237	45970	173	2									
KL	9365	broad.mit.edu	37	chr13	33590827	33590827	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggcggctggcagcagcaCggcaagggtgcgtccatctg	18	11	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:33590827C>T	uc001uus.2	+	1	257	c.249C>T	c.(247-249)CAC>CAT	p.H83H	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	83	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGCAGCAGCACGGCAAGGGTG	0.741													T	33590827	C	T	33590827	2	4	63	1	0	0	0	0	0	0	0	1	8331	535	19	1		1	KL	13	33590827	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	636554	33590827	81579051	1238	45971											
KL	9365	broad.mit.edu	37	chr13	33591260	33591260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctgcttccgccacttcGgcggtcaggtcaagtactgg	12	13	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:33591260G>A	uc001uus.2	+	1	690	c.682G>A	c.(682-684)GGC>AGC	p.G228S	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	228	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCGCCACTTCGGCGGTCAGGT	0.711													A	33591260	G	A	33591260	3	1	63	1	0	0	0	0	1	0	0	0	8331	1116	39	1	684	1	KL	13	33591260	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	433	33591260	81578618	1239	45972											
SPG20	23111	broad.mit.edu	37	chr13	36909426	36909426	+	Frame_Shift_Del	DEL	C	C	-													cataggatacagtgtagtgaCcttcagcagcttgaggagta							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:36909425_36909425AC>A	uc001uvn.3	-	2	813	c.543_543GT>T	c.(541-543)ggtfs	p.G181fs	SPG20_uc010ten.2_Frame_Shift_Del_p.G181fs|SPG20_uc001uvm.3_Frame_Shift_Del_p.G181fs|SPG20_uc001uvo.3_Frame_Shift_Del_p.G181fs|SPG20_uc001uvq.3_Frame_Shift_Del_p.G181fs|SPG20_uc001uvp.2_Frame_Shift_Del_p.G181fs	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	181					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CAGTGTAGTGACCTTCAGCAG	0.483													-	36909426	C	-	36909426	7	5	63	1	0	1	0	1	0	0	0	0	15041	507	18	0	1490	0	SPG20	13	36909426	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	3318166	36909426	78260452	1240	45973											
EXOSC8	11340	broad.mit.edu	37	chr13	37582924	37582924	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atctggcaacaggaaccttaAcaatagtaatggatgaggaa	10	6	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:37582924A>C	uc001uwa.2	+	10	932	c.667A>C	c.(667-669)ACA>CCA	p.T223P	EXOSC8_uc001uvz.2_RNA|EXOSC8_uc001uwb.2_Missense_Mutation_p.T223P|EXOSC8_uc001uwc.2_RNA	NM_181503	NP_852480	Q96B26	EXOS8_HUMAN	exosome component 8	223					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			pancreas(1)	1		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		AGGAACCTTAACAATAGTAAT	0.393													C	37582924	A	C	37582924	3	2	63	1	0	0	0	0	1	0	0	0	5320	43	2	5	705	5	EXOSC8	13	37582924	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	673498	37582924	77586954	1241	45974											
FREM2	341640	broad.mit.edu	37	chr13	39435611	39435611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggttgttggagcagagccGttctcagctaaattgcgcta	14	8	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:39435611G>A	uc001uwv.2	+	15	7872	c.7563G>A	c.(7561-7563)CCG>CCA	p.P2521P	FREM2_uc001uww.2_Silent_p.P607P	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2521	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAGCAGAGCCGTTCTCAGCTA	0.438													A	39435611	G	A	39435611	2	1	63	1	0	0	0	0	0	0	0	1	6045	1132	40	1		1	FREM2	13	39435611	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1852687	39435611	75734267	1242	45975											
LHFP	10186	broad.mit.edu	37	chr13	40175215	40175215	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggatatgagcacctccggaAggtaccgaaggacacaggct	13	10	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:40175215A>G	uc001uxf.2	-	2	650	c.139T>C	c.(139-141)TTC>CTC	p.F47L		NM_005780	NP_005771	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner precursor	47						integral to membrane	DNA binding		HMGA2/LHFP(2)	soft_tissue(2)|lung(1)|breast(1)	4		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		CACCTCCGGAAGGTACCGAAG	0.567			T	HMGA2	lipoma								G	40175215	A	G	40175215	3	3	63	1	0	0	0	0	1	0	0	0	8763	72	3	3	475	3	LHFP	13	40175215	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	739604	40175215	74994663	1243	45976											
MRPS31	10240	broad.mit.edu	37	chr13	41303725	41303725	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcatgaaattctgaaccaTcatcatcaaaacctaggaaa	5	9	5	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:41303725T>C	uc001uxm.3	-	7	1046	c.971A>G	c.(970-972)GAT>GGT	p.D324G	MIR320D-1_hsa-mir-320d-1|MI0008190_5'Flank	NM_005830	NP_005821	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31 precursor	324						mitochondrion|ribosome	protein domain specific binding				0		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		TTCTGAACCATCATCATCAAA	0.323													C	41303725	T	C	41303725	3	2	63	1	0	0	0	0	1	0	0	0	9841	1435	50	3	220	3	MRPS31	13	41303725	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1128510	41303725	73866153	1244	45977											
AKAP11	11215	broad.mit.edu	37	chr13	42877676	42877676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaaagaactccacaattgCactggaaattcatctcagca	5	11	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:42877676C>T	uc001uys.1	+	8	4969	c.4794C>T	c.(4792-4794)TGC>TGT	p.C1598C		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	1598					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TCCACAATTGCACTGGAAATT	0.433													T	42877676	C	T	42877676	2	4	63	1	0	0	0	0	0	0	0	1	447	718	25	2		2	AKAP11	13	42877676	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1573951	42877676	72292202	1245	45978											
TSC22D1	8848	broad.mit.edu	37	chr13	45149774	45149774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaagaagagagatcttccGtgtgagattcatccagatca	10	9	3	5			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:45149774G>A	uc001uzn.3	-	1	928	c.437C>T	c.(436-438)ACG>ATG	p.T146M	TSC22D1_uc001uzo.1_Missense_Mutation_p.T146M	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	146					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GAGATCTTCCGTGTGAGATTC	0.478													A	45149774	G	A	45149774	3	1	63	1	0	0	0	0	1	0	0	0	16604	1145	40	1	2925	1	TSC22D1	13	45149774	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2272098	45149774	70020104	1246	45979											
COG3	83548	broad.mit.edu	37	chr13	46103989	46103989	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaaagctgcctgtgacatTgagaagtatgtccttgtacc	9	9	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:46103989T>C	uc001vak.2	+	21	2395	c.2294T>C	c.(2293-2295)TTG>TCG	p.L765S	COG3_uc010tfv.1_Missense_Mutation_p.L602S|COG3_uc010aci.2_Missense_Mutation_p.L541S	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	component of golgi transport complex 3	765					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|skin(1)	2		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CCTGTGACATTGAGAAGTATG	0.383													C	46103989	T	C	46103989	3	2	63	1	0	0	0	0	1	0	0	0	3659	1821	63	3	2376	3	COG3	13	46103989	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	954215	46103989	69065889	1247	45980											
SERPINE3	647174	broad.mit.edu	37	chr13	51935996	51935996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatttttaaagcagatcggCcattcatctatttcctgaga	6	9	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:51935996C>T	uc001vfh.2	+	7	1198	c.1138C>T	c.(1138-1140)CCA>TCA	p.P380S	SERPINE3_uc010tgp.1_Missense_Mutation_p.P380S|INTS6_uc001vfi.2_3'UTR|INTS6_uc001vfj.2_3'UTR|INTS6_uc001vfk.2_3'UTR|INTS6_uc001vfl.2_3'UTR	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	nexin-related serine protease inhibitor	380					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						AGCAGATCGGCCATTCATCTA	0.358													T	51935996	C	T	51935996	3	4	63	1	0	0	0	0	1	0	0	0	14113	739	26	2	1164	2	SERPINE3	13	51935996	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	5832007	51935996	63233882	1248	45981											
THSD1	55901	broad.mit.edu	37	chr13	52960256	52960256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgagacacactcggcgacGctctctgacaccatccccac	8	17	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:52960256G>A	uc001vgo.2	-	4	1632	c.1087C>T	c.(1087-1089)CGT>TGT	p.R363C	THSD1_uc001vgp.2_Intron|THSD1_uc010tgz.1_5'UTR|THSD1_uc010aea.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	363	Extracellular (Potential).|TSP type-1.					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ACTCGGCGACGCTCTCTGACA	0.542													A	52960256	G	A	52960256	3	1	63	1	0	0	0	0	1	0	0	0	15874	1087	38	1	1479	1	THSD1	13	52960256	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1024260	52960256	62209622	1249	45982											
THSD1	55901	broad.mit.edu	37	chr13	52960305	52960305	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacactggctccatggctgCcacagtccccaagtttctgc	8	16	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:52960305C>T	uc001vgo.2	-	4	1583	c.1038G>A	c.(1036-1038)TGG>TGA	p.W346*	THSD1_uc001vgp.2_Intron|THSD1_uc010tgz.1_5'UTR|THSD1_uc010aea.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	346	Extracellular (Potential).|TSP type-1.					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TCCATGGCTGCCACAGTCCCC	0.483													T	52960305	C	T	52960305	4	4	63	1	0	0	0	0	0	1	0	0	15874	740	26	2	1528	2	THSD1	13	52960305	Nonsense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	49	52960305	62209573	1250	45983											
THSD1	55901	broad.mit.edu	37	chr13	52971604	52971604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgaaggtgcatggtggagGcagcactgtcacctctaccc	13	12	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:52971604G>A	uc001vgo.2	-	3	1329	c.784C>T	c.(784-786)CCT>TCT	p.P262S	THSD1_uc001vgp.2_Missense_Mutation_p.P262S|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	262	Extracellular (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CATGGTGGAGGCAGCACTGTC	0.552													A	52971604	G	A	52971604	3	1	63	1	0	0	0	0	1	0	0	0	15874	1203	42	2	1786	2	THSD1	13	52971604	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	11299	52971604	62198274	1251	45984											
PCDH8	5100	broad.mit.edu	37	chr13	53420351	53420351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccattgcagcaccgaccCggacaccccgagccgagagc	11	18	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:53420351C>T	uc001vhi.2	-	1	2424	c.2221G>A	c.(2221-2223)GGG>AGG	p.G741R	PCDH8_uc001vhj.2_Missense_Mutation_p.G741R	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	741	Extracellular (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGCACCGACCCGGACACCCCG	0.711													T	53420351	C	T	53420351	3	4	63	1	0	0	0	0	1	0	0	0	11517	652	23	1	1003	1	PCDH8	13	53420351	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	448747	53420351	61749527	1252	45985											
PCDH17	27253	broad.mit.edu	37	chr13	58207290	58207290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccagaaggctctggaccgcGagcaacagaatcaccatacg	10	13	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:58207290G>A	uc001vhq.1	+	1	1502	c.610G>A	c.(610-612)GAG>AAG	p.E204K	PCDH17_uc010aec.1_Missense_Mutation_p.E204K	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	204	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCTGGACCGCGAGCAACAGAA	0.602													A	58207290	G	A	58207290	3	1	63	1	0	0	0	0	1	0	0	0	11512	1059	37	1	612	1	PCDH17	13	58207290	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	4786939	58207290	56962588	1253	45986			1	18		4	4	1062	N	G_C	4.378417e-05
PCDH17	27253	broad.mit.edu	37	chr13	58207934	58207934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagcttgaggagaactaCgacaacttctacacggtggt	10	9	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:58207934C>T	uc001vhq.1	+	1	2146	c.1254C>T	c.(1252-1254)TAC>TAT	p.Y418Y	PCDH17_uc010aec.1_Silent_p.Y418Y	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	418	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGGAGAACTACGACAACTTCT	0.522													T	58207934	C	T	58207934	2	4	63	1	0	0	0	0	0	0	0	1	11512	547	19	1		1	PCDH17	13	58207934	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	644	58207934	56961944	1254	45987			1	18		4	4	1062	N	G_C	4.378417e-05
PCDH17	27253	broad.mit.edu	37	chr13	58208012	58208012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaacgtgaccatcgtggcGcgggacgggggctctcctcc	14	14	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:58208012G>A	uc001vhq.1	+	1	2224	c.1332G>A	c.(1330-1332)GCG>GCA	p.A444A	PCDH17_uc010aec.1_Silent_p.A444A	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	444	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCATCGTGGCGCGGGACGGGG	0.587													A	58208012	G	A	58208012	2	1	63	1	0	0	0	0	0	0	0	1	11512	1074	38	1		1	PCDH17	13	58208012	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	78	58208012	56961866	1255	45988			1	18		4	4	1062	N	G_C	4.378417e-05
PCDH17	27253	broad.mit.edu	37	chr13	58208351	58208351	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtgcttgctaaggactcGggggcgcccgcgcacttgga	16	11	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:58208351G>A	uc001vhq.1	+	1	2563	c.1671G>A	c.(1669-1671)TCG>TCA	p.S557S	PCDH17_uc010aec.1_Silent_p.S557S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	557	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTAAGGACTCGGGGGCGCCCG	0.592													A	58208351	G	A	58208351	2	1	63	1	0	0	0	0	0	0	0	1	11512	1103	39	1		1	PCDH17	13	58208351	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	339	58208351	56961527	1256	45989			1	18		4	4	1062	N	G_C	4.378417e-05
PIBF1	10464	broad.mit.edu	37	chr13	73428254	73428254	+	Frame_Shift_Del	DEL	A	A	-													ggaacgagcagtgatggctgAaaaggatgctttagaaaaac							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:73428253_73428253GA>G	uc001vjc.3	+	9	1587	c.1282_1282GA>G	c.(1282-1284)gaafs	p.E428fs	PIBF1_uc010aeo.1_Non-coding_Transcript|PIBF1_uc001vjb.3_Frame_Shift_Del_p.E428fs|PIBF1_uc010aep.3_Intron	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	428						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AGTGATGGCTGAAAAGGATGC	0.348													-	73428254	A	-	73428254	7	5	63	1	0	1	0	1	0	0	0	0	11879	246	9	0	1317	0	PIBF1	13	73428254	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	15219903	73428254	41741624	1257	45990											
MYCBP2	23077	broad.mit.edu	37	chr13	77671705	77671706	+	Frame_Shift_Ins	INS	-	-	T													ctctttctcacactctttctINSttttaagaactgcacaggaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:77671704_77671705C>CT	uc021rks.1	-	55	9851_9852	c.9584_9585G>AG	c.(9583-9585)aagfs	p.K3195fs	MYCBP2_uc010aev.3_Frame_Shift_Ins_p.K2561fs|MYCBP2_uc001vkg.1_Frame_Shift_Ins_p.K680fs|MYCBP2_uc010aew.3_Frame_Shift_Ins_p.K543fs	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	3157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		cacactctttctttttAAGAAC	0.396													T	77671706	-	T	77671705	7	5	63	1	0	1	1	0	0	0	0	0	10018	1609	56	0	4564	0	MYCBP2	13	77671705	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	4243451	77671705	37498173	1258	45991											
NDFIP2	54602	broad.mit.edu	37	chr13	80125185	80125185	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttcagaggatttgttaattAtctaaaagtcagaaacatgt	7	5	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:80125185A>T	uc001vlf.2	+	7	1021	c.941A>T	c.(940-942)TAT>TTT	p.Y314F	NDFIP2_uc010tib.1_Missense_Mutation_p.Y294F|NDFIP2_uc001vlg.2_RNA	NM_019080	NP_061953	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2 isoform 1	314	Extracellular (Potential).				negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endoplasmic reticulum|Golgi membrane|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	signal transducer activity|WW domain binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		TTTGTTAATTATCTAAAAGTC	0.328													T	80125185	A	T	80125185	3	4	63	1	0	0	0	0	1	0	0	0	10246	449	16	5	967	5	NDFIP2	13	80125185	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	2453480	80125185	35044693	1259	45992											
SLITRK6	84189	broad.mit.edu	37	chr13	86369595	86369595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgataagctttcaatgttgCgctcctgacaatgtattaga	8	8	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:86369595C>T	uc001vll.1	-	2	1508	c.1049G>A	c.(1048-1050)CGC>CAC	p.R350H	SLITRK6_uc010afe.1_Missense_Mutation_p.R115H	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	350	Extracellular (Potential).|LRRNT 2.					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTCAATGTTGCGCTCCTGACA	0.418													T	86369595	C	T	86369595	3	4	63	1	0	0	0	0	1	0	0	0	14747	768	27	1	1480	1	SLITRK6	13	86369595	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	6244410	86369595	28800283	1260	45993											
SLITRK5	26050	broad.mit.edu	37	chr13	88329586	88329586	+	Frame_Shift_Del	DEL	C	C	-													ccggttgaatagcaccggggCccccgcgagcttgggcgcag							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:88329585_88329585GC>G	uc001vln.3	+	1	2161	c.1942_1942GC>G	c.(1942-1944)gccfs	p.A648fs	SLITRK5_uc010tic.1_Frame_Shift_Del_p.A407fs|SLITRK5_uc021rlc.1_Frame_Shift_Del_p.A648fs	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	648						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TAGCACCGGGGCCCCCGCGAG	0.617													-	88329586	C	-	88329586	7	5	63	1	0	1	0	1	0	0	0	0	14746	739	26	0	1945	0	SLITRK5	13	88329586	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	1959991	88329586	26840292	1261	45994											
DCT	1638	broad.mit.edu	37	chr13	95095734	95095734	+	Frame_Shift_Del	DEL	A	A	-													agccaagttggtctgaggttAaaaagagttcttcattagtc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:95095733_95095733TA>T	uc010afh.3	-	8	1864	c.1437_1437TA>A	c.(1435-1437)ttafs	p.L479fs	DCT_uc001vlv.4_Frame_Shift_Del_p.L446fs	NM_001129889	NP_001123361	P40126	TYRP2_HUMAN	Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA.	446					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GGTCTGAGGTTAAAAAGAGTT	0.458													-	95095734	A	-	95095734	7	5	63	1	0	1	0	1	0	0	0	0	4304	372	13	0	230	0	DCT	13	95095734	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	6766148	95095734	20074144	1262	45995											
DZIP1	22873	broad.mit.edu	37	chr13	96242593	96242593	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgatgttcaaggaattctcGaatttgatgaaagttaggta	10	3	2	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:96242593G>A	uc001vmk.2	-	17	2635	c.1783C>T	c.(1783-1785)CGA>TGA	p.R595*	DZIP1_uc001vmi.2_5'Flank|DZIP1_uc001vmj.2_Nonsense_Mutation_p.R71*|DZIP1_uc001vml.2_Nonsense_Mutation_p.R576*	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	595					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AGGAATTCTCGAATTTGATGA	0.368													A	96242593	G	A	96242593	4	1	63	1	0	0	0	0	0	1	0	0	4863	1066	37	1	848	1	DZIP1	13	96242593	Nonsense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1146859	96242593	18927285	1263	45996											
RNF113B	140432	broad.mit.edu	37	chr13	98829062	98829062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccccggtagatgtggtcGtgctcccgaccccgcagtgc	12	15	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:98829062G>A	uc001vnk.2	-	1	460	c.429C>T	c.(427-429)CAC>CAT	p.H143H	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	143							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			AGATGTGGTCGTGCTCCCGAC	0.642													A	98829062	G	A	98829062	2	1	63	1	0	0	0	0	0	0	0	1	13428	1136	40	1		1	RNF113B	13	98829062	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2586469	98829062	16340816	1264	45997											
ZIC5	85416	broad.mit.edu	37	chr13	100622673	100622673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggccgggggcggtggcggCggcggcggcggcggcggcgg	27	13	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:100622673C>T	uc001vom.1	-	1	1506	c.1257G>A	c.(1255-1257)CCG>CCA	p.P419P		NM_033132	NP_149123	Q96T25	ZIC5_HUMAN	zinc finger protein of the cerebellum 5	419	Pro-rich.				cell differentiation	nucleus	DNA binding|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					gcggtggcggcggcggcggcg	0.488													T	100622673	C	T	100622673	2	4	63	1	0	0	0	0	0	0	0	1	17679	755	27	1		1	ZIC5	13	100622673	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1793611	100622673	14547205	1265	45998											
ZIC2	7546	broad.mit.edu	37	chr13	100637592	100637592	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggtccatgagtcctccCcgcagggctctgaatcctcc	10	16	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:100637592C>A	uc001von.2	+	3	1255	c.1255C>A	c.(1255-1257)CCG>ACG	p.P419T		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	419					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGAGTCCTCCCCGCAGGGCTC	0.706													A	100637592	C	A	100637592	3	1	63	1	0	0	0	0	1	0	0	0	17676	623	22	5	1265	5	ZIC2	13	100637592	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	14919	100637592	14532286	1266	45999											
LIG4	3981	broad.mit.edu	37	chr13	108861786	108861786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatataaaggtgtttagatgCgagcttaccagatgccttcc	9	8	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:108861786C>T	uc001vqn.2	-	2	2104	c.1831G>A	c.(1831-1833)GCA>ACA	p.A611T	LIG4_uc001vqo.2_Missense_Mutation_p.A611T|LIG4_uc010agg.1_Missense_Mutation_p.A544T|LIG4_uc010agf.2_Missense_Mutation_p.A611T|LIG4_uc001vqp.2_Missense_Mutation_p.A611T	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	611					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TGTTTAGATGCGAGCTTACCA	0.423								NHEJ					T	108861786	C	T	108861786	3	4	63	1	0	0	0	0	1	0	0	0	8783	768	27	1	908	1	LIG4	13	108861786	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	8224194	108861786	6308092	1267	46000											
MCF2L	23263	broad.mit.edu	37	chr13	113719271	113719271	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgaaagtttcgccctcAtggtgaagcagacggctcag	11	12	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:113719271A>G	uc001vsu.2	+	7	821	c.799A>G	c.(799-801)ATG>GTG	p.M267V	MCF2L_uc001vsq.2_Missense_Mutation_p.M267V|MCF2L_uc010tjr.1_Missense_Mutation_p.M210V|MCF2L_uc001vsr.2_Missense_Mutation_p.M214V|MCF2L_uc001vss.3_Missense_Mutation_p.M208V|MCF2L_uc010tjs.1_Missense_Mutation_p.M208V|MCF2L_uc001vst.1_Missense_Mutation_p.M172V	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	240					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TTTCGCCCTCATGGTGAAGCA	0.582													G	113719271	A	G	113719271	3	3	63	1	0	0	0	0	1	0	0	0	9379	217	8	3	920	3	MCF2L	13	113719271	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	4857485	113719271	1450607	1268	46001											
PCID2	55795	broad.mit.edu	37	chr13	113835535	113835535	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcaaaggcaaatgacaggTactcctcagctgcaaagaag	10	10	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:113835535T>C	uc010tju.1	-	10	776	c.695A>G	c.(694-696)TAC>TGC	p.Y232C	PCID2_uc001vtb.2_Missense_Mutation_p.Y65C|PCID2_uc010tjv.1_Missense_Mutation_p.Y232C|PCID2_uc010tjw.1_Missense_Mutation_p.Y232C|PCID2_uc001vte.2_Missense_Mutation_p.Y125C|PCID2_uc001vtd.2_Missense_Mutation_p.Y125C|PCID2_uc001vtf.2_Missense_Mutation_p.Y125C	NM_001127203	NP_001120675	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	232					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding				0	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			AAATGACAGGTACTCCTCAGC	0.463													C	113835535	T	C	113835535	3	2	63	1	0	0	0	0	1	0	0	0	11579	1638	57	3	524	3	PCID2	13	113835535	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	116264	113835535	1334343	1269	46002											
RASA3	22821	broad.mit.edu	37	chr13	114776705	114776705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttggagatcaatgtcagcGtcctggacgtctgggggtcc	14	10	4	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:114776705G>A	uc001vui.2	-	16	1663	c.1532C>T	c.(1531-1533)ACG>ATG	p.T511M	RASA3_uc010tkk.1_Missense_Mutation_p.T479M|RASA3_uc001vuj.2_Missense_Mutation_p.T128M	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	511	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CAATGTCAGCGTCCTGGACGT	0.527													A	114776705	G	A	114776705	3	1	63	1	0	0	0	0	1	0	0	0	13062	1145	40	1	1008	1	RASA3	13	114776705	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	941170	114776705	393173	1270	46003											
OR4N5	390437	broad.mit.edu	37	chr14	20612565	20612565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgcagtcatcctctgtcGtataagggagcactcctctg	9	12	3	0	rs143406902	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:20612565G>A	uc010tla.1	+	1	671	c.671G>A	c.(670-672)CGT>CAT	p.R224H		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N,	224	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		ATCCTCTGTCGTATAAGGGAG	0.483													A	20612565	G	A	20612565	3	1	63	1	0	0	0	0	1	0	0	0	11079	1145	40	1	673	1	OR4N5	14	20612565	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08		20612565	86736975	1271	46004											
RNASE6	6039	broad.mit.edu	37	chr14	21250189	21250189	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagactcacttcaggaaagTatccccagtgccgctatagt	9	12	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:21250189T>C	uc001vye.3	+	2	624	c.331T>C	c.(331-333)TAT>CAT	p.Y111H		NM_005615	NP_005606	Q93091	RNAS6_HUMAN	ribonuclease, RNase A family, k6 precursor	111					defense response|RNA catabolic process	extracellular region	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00406)		Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		TTCAGGAAAGTATCCCCAGTG	0.512													C	21250189	T	C	21250189	3	2	63	1	0	0	0	0	1	0	0	0	13407	1638	57	3	333	3	RNASE6	14	21250189	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	637624	21250189	86099351	1272	46005											
JUB	84962	broad.mit.edu	37	chr14	23443287	23443287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcactcaaagtgataatccCggtccatggatatcaccctc	7	13	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:23443287C>T	uc001whz.2	-	7	1836	c.1460G>A	c.(1459-1461)CGG>CAG	p.R487Q	JUB_uc001why.2_Missense_Mutation_p.R70Q	NM_032876	NP_116265	Q96IF1	JUB_HUMAN	ajuba isoform 1	487	LIM zinc-binding 3.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding				0	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0122)		GTGATAATCCCGGTCCATGGA	0.552											OREG0022591	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	23443287	C	T	23443287	3	4	63	1	0	0	0	0	1	0	0	0	7968	652	23	1	164	1	JUB	14	23443287	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2193098	23443287	83906253	1273	46006											
MYH6	4624	broad.mit.edu	37	chr14	23870060	23870060	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccagagccccgatggagTagtacacctgctgcacgctc	12	14	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:23870060T>C	uc001wjv.2	-	13	1335	c.1268A>G	c.(1267-1269)TAC>TGC	p.Y423C	MYH6_uc010akp.1_Missense_Mutation_p.Y423C	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	423	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCCGATGGAGTAGTACACCTG	0.597													C	23870060	T	C	23870060	3	2	63	1	0	0	0	0	1	0	0	0	10038	1638	57	3	4659	3	MYH6	14	23870060	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	426773	23870060	83479480	1274	46007											
MYH7	4625	broad.mit.edu	37	chr14	23891463	23891463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggtcagcttcaggtcGccctccagcttccgcttcgc	10	17	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:23891463G>A	uc001wjx.2	-	25	3277	c.3171C>T	c.(3169-3171)GGC>GGT	p.G1057G		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1057	Potential.		G -> S (in CMH1).|G -> D (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCTTCAGGTCGCCCTCCAGCT	0.597													A	23891463	G	A	23891463	2	1	63	1	0	0	0	0	0	0	0	1	10039	1074	38	1		1	MYH7	14	23891463	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	21403	23891463	83458077	1275	46008											
TINF2	26277	broad.mit.edu	37	chr14	24710896	24710897	+	Frame_Shift_Ins	INS	-	-	A													tcacctgcagcttcgaggccINSaaatccacaggagcctctga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:24710896_24710897insA	uc001woa.3	-	3	725_726	c.383_384insT	c.(382-384)TTGfs	p.L128fs	TINF2_uc010alm.2_5'UTR|TINF2_uc001wob.3_Frame_Shift_Ins_p.L128fs|TINF2_uc010tof.1_Frame_Shift_Ins_p.L93fs|TINF2_uc001woc.3_Frame_Shift_Ins_p.L128fs	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	128					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|protein binding|telomeric DNA binding				0				GBM - Glioblastoma multiforme(265;0.0185)		GCTTCGAGGCCAAATCCACAGG	0.386									Ataxia_Pancytopenia_syndrome|Congenital_Dyskeratosis				A	24710897	-	A	24710896	7	5	63	1	0	1	1	0	0	0	0	0	15920	593	21	0	1003	0	TINF2	14	24710896	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	819433	24710896	82638644	1276	46009	174	2									
TINF2	26277	broad.mit.edu	37	chr14	24710897	24710898	+	Frame_Shift_Ins	INS	-	-	A													cacctgcagcttcgaggccaINSaatccacaggagcctctgac							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:24710896_24710897C>CA	uc001woa.4	-	2	725_726	c.383_384G>TG	c.(382-384)ttgfs	p.L128fs	TINF2_uc010alm.3_5'UTR|TINF2_uc001wob.4_Frame_Shift_Ins_p.L128fs|TINF2_uc010tof.2_Frame_Shift_Ins_p.L93fs|TINF2_uc001woc.4_Frame_Shift_Ins_p.L128fs	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN	Homo sapiens TERF1 (TRF1)-interacting nuclear factor 2 (TINF2), transcript variant 1, mRNA.	128					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		GCTTCGAGGCCAAATCCACAGG	0.455									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				A	24710898	-	A	24710897	7	5	63	1	0	1	1	0	0	0	0	0	15920	131	5	0	1004	0	TINF2	14	24710897	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1	24710897	82638643	1277	46010	174	2									
NYNRIN	57523	broad.mit.edu	37	chr14	24884963	24884963	+	Frame_Shift_Del	DEL	C	C	-													tatgttctatcgcccaccagCccccctgtctccctttcctt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:24884962_24884962GC>G	uc001wpf.4	+	8	4325	c.4007_4007GC>G	c.(4006-4008)agcfs	p.S1336fs		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1336					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCGCCCACCAGCCCCCCTGTC	0.612													-	24884963	C	-	24884963	7	5	63	1	0	1	0	1	0	0	0	0	10796	738	26	0	4038	0	NYNRIN	14	24884963	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	174066	24884963	82464577	1278	46011											
NYNRIN	57523	broad.mit.edu	37	chr14	24885916	24885917	+	Frame_Shift_Del	DEL	AC	AC	-													ggcattccccctgaagccctAcacacacacggctgtggccc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:24885915_24885916TAC>T	uc001wpf.4	+	8	5278_5279	c.4960_4961TAC>T	c.(4960-4962)tacfs	p.Y1654fs		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1654	Integrase catalytic.				DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCTGAAGCCCTACACACACACG	0.614													-	24885917	AC	-	24885916	7	5	63	1	0	1	0	1	0	0	0	0	10796	391	14	0	4991	0	NYNRIN	14	24885916	Frame_Shift_Del	DEL	AC	TCGA-BR-8078-01A-11D-2340-08	953	24885916	82463624	1279	46012											
GZMH	2999	broad.mit.edu	37	chr14	25076614	25076614	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acttggcctttctctccagcTggtggggaagaagcaagaaa	12	9	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:25076614T>G	uc001wpr.1	-	4	385	c.340_splice	c.e4-1	p.L114_splice	GZMH_uc010aly.1_Intron|GZMH_uc010alz.1_Intron	NM_033423	NP_219491	P20718	GRAH_HUMAN	granzyme H precursor						apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(265;0.0267)		TCTCTCCAGCTGGTGGGGAAG	0.607													G	25076614	T	G	25076614	5	3	63	1	0	0	0	0	0	0	1	0	6917	1594	55	5	410	5	GZMH	14	25076614	Splice_Site	SNP	T	TCGA-BR-8078-01A-11D-2340-08	190698	25076614	82272926	1280	46013											
FOXG1	2290	broad.mit.edu	37	chr14	29237333	29237333	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaccacctcgcgggccaAgctggccttcaagcgcggtg	12	17	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:29237333A>G	uc001wqe.2	+	1	1047	c.848A>G	c.(847-849)AAG>AGG	p.K283R		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	283					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TCGCGGGCCAAGCTGGCCTTC	0.697													G	29237333	A	G	29237333	3	3	63	1	0	0	0	0	1	0	0	0	6007	72	3	3	850	3	FOXG1	14	29237333	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	4160719	29237333	78112207	1281	46014											
G2E3	55632	broad.mit.edu	37	chr14	31084704	31084704	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacacattacctgatgtgaAagctttggggttttggaaca	10	7	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:31084704A>G	uc001wqk.2	+	14	1977	c.1823A>G	c.(1822-1824)AAA>AGA	p.K608R	G2E3_uc010tpf.1_Missense_Mutation_p.K562R|G2E3_uc001wql.1_Missense_Mutation_p.K120R	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	608	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						CCTGATGTGAAAGCTTTGGGG	0.353													G	31084704	A	G	31084704	3	3	63	1	0	0	0	0	1	0	0	0	6140	14	1	3	1873	3	G2E3	14	31084704	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	1847371	31084704	76264836	1282	46015											
HECTD1	25831	broad.mit.edu	37	chr14	31574620	31574620	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatttgtttctgaataccCgtatgcatacaaaagtcaaa	5	9	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:31574620C>T	uc001wrc.1	-	40	7857	c.7368G>A	c.(7366-7368)ACG>ACA	p.T2456T	HECTD1_uc001wra.1_Silent_p.T582T|HECTD1_uc001wrb.1_Silent_p.T582T	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	2456	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCTGAATACCCGTATGCATAC	0.318													T	31574620	C	T	31574620	2	4	63	1	0	0	0	0	0	0	0	1	7039	639	23	1		1	HECTD1	14	31574620	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	489916	31574620	75774920	1283	46016											
HEATR5A	25938	broad.mit.edu	37	chr14	31785042	31785042	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcattatataagtgactTagagcttcttttccagcctg	6	9	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:31785042T>C	uc001wrf.3	-	21	3350	c.3273A>G	c.(3271-3273)CTA>CTG	p.L1091L	HEATR5A_uc010ami.2_Silent_p.L989L	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1378							binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ATAAGTGACTTAGAGCTTCTT	0.388													C	31785042	T	C	31785042	2	2	63	1	0	0	0	0	0	0	0	1	7031	1741	61	3		3	HEATR5A	14	31785042	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	210422	31785042	75564498	1284	46017											
BAZ1A	11177	broad.mit.edu	37	chr14	35276669	35276669	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgattacctttattttaatGactccatcttgtggttcaca	5	8	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:35276669G>A	uc001wsk.2	-	6	1282	c.714C>T	c.(712-714)GTC>GTT	p.V238V	BAZ1A_uc001wsl.2_Silent_p.V238V|BAZ1A_uc001wsm.1_Silent_p.V238V	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	238					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTATTTTAATGACTCCATCTT	0.328													A	35276669	G	A	35276669	2	1	63	1	0	0	0	0	0	0	0	1	1329	1277	45	4		4	BAZ1A	14	35276669	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3491627	35276669	72072871	1285	46018											
PSMA6	5687	broad.mit.edu	37	chr14	35782126	35782126	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgaagagcaaggccctcAggtatataagtgtgatcctg	12	7	1	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:35782126A>G	uc001wtd.2	+	5	558	c.449A>G	c.(448-450)CAG>CGG	p.Q150R	KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Missense_Mutation_p.Q71R|PSMA6_uc010tpu.1_Missense_Mutation_p.Q71R	NM_002791	NP_002782	P60900	PSA6_HUMAN	proteasome alpha 6 subunit	150					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity				0	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CAAGGCCCTCAGGTATATAAG	0.378													G	35782126	A	G	35782126	3	3	63	1	0	0	0	0	1	0	0	0	12671	188	7	3	467	3	PSMA6	14	35782126	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	505457	35782126	71567414	1286	46019											
KLHL28	54813	broad.mit.edu	37	chr14	45414707	45414707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccatatgtttctgcaaaaCgagaaattccaatacaatta	4	8	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:45414707C>T	uc001wvq.2	-	2	671	c.425G>A	c.(424-426)CGT>CAT	p.R142H	KLHL28_uc001wvr.2_Missense_Mutation_p.R142H|KLHL28_uc001wvt.3_Missense_Mutation_p.R142H	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	142										ovary(1)	1						TTCTGCAAAACGAGAAATTCC	0.398													T	45414707	C	T	45414707	3	4	63	1	0	0	0	0	1	0	0	0	8382	536	19	1	1306	1	KLHL28	14	45414707	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	9632581	45414707	61934833	1287	46020											
FANCM	57697	broad.mit.edu	37	chr14	45642364	45642364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcactcagatcgatgccGccattttataggccttatgc	8	11	2	2	rs142763060		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:45642364G>A	uc001wwd.3	+	13	2366	c.2267G>A	c.(2266-2268)CGC>CAC	p.R756H	FANCM_uc010anf.2_Missense_Mutation_p.R730H|FANCM_uc001wwe.3_Missense_Mutation_p.R292H|FANCM_uc010ang.2_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	756					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						GATCGATGCCGCCATTTTATA	0.418								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				A	45642364	G	A	45642364	3	1	63	1	0	0	0	0	1	0	0	0	5671	1087	38	1	2317	1	FANCM	14	45642364	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	227657	45642364	61707176	1288	46021											
FANCM	57697	broad.mit.edu	37	chr14	45645142	45645142	+	Frame_Shift_Del	DEL	A	A	-													atgtataaattatccatctgAaaaaagttgcctttatgata							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:45645142delA	uc001wwd.3	+	14	3284	c.3185delA	c.(3184-3186)GAAfs	p.E1062fs	FANCM_uc010anf.2_Frame_Shift_Del_p.E1036fs|FANCM_uc001wwe.3_Frame_Shift_Del_p.E598fs|FANCM_uc010ang.2_Frame_Shift_Del_p.E276fs	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1062					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						TATCCATCTGAAAAAAGTTGC	0.299								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				-	45645142	A	-	45645142	7	5	63	1	0	1	0	1	0	0	0	0	5671	246	9	0	3239	0	FANCM	14	45645142	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	2778	45645142	61704398	1289	46022											
RPL10L	140801	broad.mit.edu	37	chr14	47120511	47120511	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcaatcacatgctcctcgttCtgaagcttggtgcggatgga	11	10	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:47120511C>A	uc001wwg.2	-	1	518	c.429G>T	c.(427-429)CAG>CAT	p.Q143H		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	143					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						GCTCCTCGTTCTGAAGCTTGG	0.532													A	47120511	C	A	47120511	3	1	63	1	0	0	0	0	1	0	0	0	13556	912	32	5	219	5	RPL10L	14	47120511	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1475369	47120511	60229029	1290	46023											
SDCCAG1	9147	broad.mit.edu	37	chr14	50298924	50298924	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccatgcctatatgcttaCgtcagtatgtcttcaactgg	8	11	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:50298924C>T	uc001wxc.2	-	9	874	c.806_splice	c.e9+1	p.T269_splice	SDCCAG1_uc010anj.1_Splice_Site_p.T269_splice|SDCCAG1_uc010tqi.1_Splice_Site_p.T269_splice|SDCCAG1_uc001wxe.2_Splice_Site_p.T227_splice|SDCCAG1_uc001wxd.1_5'Flank|SDCCAG1_uc010anq.1_Splice_Site_p.T40_splice	NM_004713	NP_004704	O60524	NEMF_HUMAN	serologically defined colon cancer antigen 1							cytoplasm|nucleus					0	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)		TATATGCTTACGTCAGTATGT	0.323													T	50298924	C	T	50298924	5	4	63	1	0	0	0	0	0	0	1	0	13957	550	19	1	2523	1	SDCCAG1	14	50298924	Splice_Site	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3178413	50298924	57050616	1291	46024											
SOS2	6655	broad.mit.edu	37	chr14	50606661	50606661	+	Splice_Site	DEL	A	A	-													tccatatttagtaacttaccAaaaaaaggcacacaaggtgg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:50606660_50606660CA>C	uc001wxs.4	-	17	2883	c.2785_splice	c.e17+1	p.G929_splice	SOS2_uc010tql.2_Splice_Site_p.G896_splice|SOS2_uc010tqm.1_Splice_Site	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	929	Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AGTAACTTACCAAAAAAAGGC	0.343													-	50606661	A	-	50606661	8	5	63	1	0	1	0	1	0	0	1	0	14937	144	5	0	1242	0	SOS2	14	50606661	Splice_Site	DEL	A	TCGA-BR-8078-01A-11D-2340-08	307737	50606661	56742879	1292	46025											
GPR137C	283554	broad.mit.edu	37	chr14	53100600	53100600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttccagagcttactttttcGacaatccaagacgatatgat	7	9	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:53100600G>A	uc001wzu.3	+	6	1048	c.1048G>A	c.(1048-1050)GAC>AAC	p.D350N	GPR137C_uc001wzt.3_Missense_Mutation_p.D366N	NM_001099652	NP_001093122	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	350	Cytoplasmic (Potential).					integral to membrane					0	Breast(41;0.0716)					TTACTTTTTCGACAATCCAAG	0.393													A	53100600	G	A	53100600	3	1	63	1	0	0	0	0	1	0	0	0	6647	1058	37	1	1070	1	GPR137C	14	53100600	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2493939	53100600	54248940	1293	46026											
SOCS4	122809	broad.mit.edu	37	chr14	55510994	55510996	+	In_Frame_Del	DEL	CTT	CTT	-													catcgatgcccttccaattcCttcttctatgaaattatatc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:55510993_55510995CCTT>C	uc021rti.1	+	0	1234_1236	c.1234_1236CCTT>C	c.(1234-1236)cct>C	p.P412del	SOCS4_uc001xbo.3_In_Frame_Del_p.P412del|SOCS4_uc001xbp.3_In_Frame_Del_p.P412del	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	Homo sapiens suppressor of cytokine signaling 4 (SOCS4), transcript variant 1, mRNA.	412	SOCS box.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						CCTTCCAATTCCTTCTTCTATGA	0.379													-	55510996	CTT	-	55510994	7	5	63	1	0	1	0	1	0	0	0	0	14916	681	24	0	1237	0	SOCS4	14	55510994	In_Frame_Del	DEL	CTT	TCGA-BR-8078-01A-11D-2340-08	2410394	55510994	51838546	1294	46027											
FBXO34	55030	broad.mit.edu	37	chr14	55817461	55817461	+	Frame_Shift_Del	DEL	A	A	-													gaaacctggaaataccaaggAaaaaattgcattctttgcat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:55817460_55817460GA>G	uc021rtk.1	+	0	352	c.352_352GA>G	c.(352-354)gaafs	p.E118fs	FBXO34_uc001xbv.3_5'Flank|FBXO34_uc001xbu.3_Frame_Shift_Del_p.E118fs|FBXO34_uc010aoo.3_Frame_Shift_Del_p.E118fs	NM_152231	NP_689417	Q9NWN3	FBX34_HUMAN	Homo sapiens F-box protein 34 (FBXO34), transcript variant 2, mRNA.	118								p.K117N(1)		breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AAATACCAAGGAAAAAATTGC	0.413													-	55817461	A	-	55817461	7	5	63	1	0	1	0	1	0	0	0	0	5744	246	9	0	355	0	FBXO34	14	55817461	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	306467	55817461	51532079	1295	46028											
C14orf149	112849	broad.mit.edu	37	chr14	59950879	59950879	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggtgctggcgcatgtaGcgccgcttggccagcagggt	16	11	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:59950879G>T	uc001xee.1	-	1	195	c.156C>A	c.(154-156)CGC>CGA	p.R52R	C14orf149_uc010trx.1_Silent_p.R52R|JKAMP_uc001xef.3_5'Flank|JKAMP_uc001xeh.3_5'Flank|JKAMP_uc001xeg.3_5'Flank|JKAMP_uc010try.1_5'Flank|JKAMP_uc001xei.3_5'Flank	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	proline racemase-like	52							proline racemase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	GGCGCATGTAGCGCCGCTTGG	0.697											OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	59950879	G	T	59950879	2	4	63	1	0	0	0	0	0	0	0	1	1752	958	34	5		5	C14orf149	14	59950879	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	4133418	59950879	47398661	1296	46029											
C14orf39	317761	broad.mit.edu	37	chr14	60928227	60928227	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttattttaaaaagttaccTgacttgcataaacttttgtg	5	6	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:60928227T>C	uc001xez.3	-	12	1167	c.1057A>G	c.(1057-1059)AGA>GGA	p.R353G	C14orf39_uc010apo.2_Missense_Mutation_p.R64G	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	353										ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		AAAAGTTACCTGACTTGCATA	0.249													C	60928227	T	C	60928227	3	2	63	1	0	0	0	0	1	0	0	0	1772	1594	55	3	734	3	C14orf39	14	60928227	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	977348	60928227	46421313	1297	46030											
SNAPC1	6617	broad.mit.edu	37	chr14	62242911	62242911	+	Frame_Shift_Del	DEL	T	T	-													ctcagcttgataaaggatgaTttttttgacaatattaagaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:62242911delT	uc001xft.2	+	5	737	c.633delT	c.(631-633)GATfs	p.D211fs		NM_003082	NP_003073	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex,	211	SNAPC4-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		TAAAGGATGATTTTTTTGACA	0.358													-	62242911	T	-	62242911	7	5	63	1	0	1	0	1	0	0	0	0	14834	1490	52	0	651	0	SNAPC1	14	62242911	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	1314684	62242911	45106629	1298	46031											
PLEKHG3	26030	broad.mit.edu	37	chr14	65198119	65198119	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caactggaaggggcccgaccTgaccacctacggggagcttg	14	13	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:65198119T>C	uc001xho.1	+	8	1159	c.890T>C	c.(889-891)CTG>CCG	p.L297P	PLEKHG3_uc001xhn.1_Missense_Mutation_p.L241P|PLEKHG3_uc001xhp.2_Missense_Mutation_p.L297P|PLEKHG3_uc010aqh.1_5'UTR	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	297	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGGCCCGACCTGACCACCTAC	0.577													C	65198119	T	C	65198119	3	2	63	1	0	0	0	0	1	0	0	0	12070	1580	55	3	740	3	PLEKHG3	14	65198119	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	2955208	65198119	42151421	1299	46032											
FUT8	2530	broad.mit.edu	37	chr14	66209057	66209057	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattgggaaggacgggcctaTatccctcctacaaagttcga	10	10	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:66209057T>C	uc001xin.2	+	11	2854	c.1657T>C	c.(1657-1659)TAT>CAT	p.Y553H	FUT8_uc001xio.2_Missense_Mutation_p.Y553H|FUT8_uc010tsp.1_Missense_Mutation_p.Y390H|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.Y553H|FUT8_uc001xiq.2_Missense_Mutation_p.Y424H|FUT8_uc001xis.2_Missense_Mutation_p.Y147H	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 isoform a	553	SH3.|Lumenal (Potential).				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GACGGGCCTATATCCCTCCTA	0.443													C	66209057	T	C	66209057	3	2	63	1	0	0	0	0	1	0	0	0	6110	1406	49	3	1790	3	FUT8	14	66209057	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1010938	66209057	41140483	1300	46033											
GPHN	10243	broad.mit.edu	37	chr14	67647553	67647553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccgtctgatgagcatgCgcagtgccaatggattgttg	14	9	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:67647553C>T	uc001xiy.2	+	22	3231	c.2110C>T	c.(2110-2112)CGC>TGC	p.R704C	GPHN_uc001xix.2_Missense_Mutation_p.R737C|GPHN_uc010tss.1_Missense_Mutation_p.R750C|GPHN_uc010tst.1_Missense_Mutation_p.R673C|GPHN_uc010tsu.1_Missense_Mutation_p.R627C	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	704	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GATGAGCATGCGCAGTGCCAA	0.483			T	MLL	AL								T	67647553	C	T	67647553	3	4	63	1	0	0	0	0	1	0	0	0	6610	768	27	1	2299	1	GPHN	14	67647553	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1438496	67647553	39701987	1301	46034											
ATP6V1D	51382	broad.mit.edu	37	chr14	67814169	67814169	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatactggcaaagtaacAcctgttaaacacagaagcat	6	9	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:67814169A>G	uc001xjf.2	-	5	485	c.309T>C	c.(307-309)GGT>GGC	p.G103G	ATP6V1D_uc001xje.2_RNA	NM_015994	NP_057078	Q9Y5K8	VATD_HUMAN	H(+)-transporting two-sector ATPase	103					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)|lung(1)	2				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		GCAAAGTAACACCTGTTAAAC	0.254													G	67814169	A	G	67814169	2	3	63	1	0	0	0	0	0	0	0	1	1182	173	6	3		3	ATP6V1D	14	67814169	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	166616	67814169	39535371	1302	46035											
PLEKHH1	57475	broad.mit.edu	37	chr14	68053850	68053850	+	Frame_Shift_Del	DEL	C	C	-													cattgcactacaactgtgaaCccccccaccaacccacccgg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:68053850delC	uc001xjl.1	+	29	4135	c.3993delC	c.(3991-3993)AACfs	p.N1331fs	PLEKHH1_uc010tsw.1_Frame_Shift_Del_p.N899fs|PLEKHH1_uc001xjn.1_Frame_Shift_Del_p.N846fs|PLEKHH1_uc010tsx.1_Frame_Shift_Del_p.P273fs|PLEKHH1_uc001xjo.1_3'UTR|PLEKHH1_uc001xjp.1_Frame_Shift_Del_p.N196fs	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	1331	FERM.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CAACTGTGAACCCCCCCACCA	0.478													-	68053850	C	-	68053850	7	5	63	1	0	1	0	1	0	0	0	0	12076	506	18	0	4103	0	PLEKHH1	14	68053850	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	239681	68053850	39295690	1303	46036											
SLC8A3	6547	broad.mit.edu	37	chr14	70518795	70518795	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctgctatcctcttggccTcctcttcttccatagtcagc	5	16	5	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:70518795T>C	uc001xly.2	-	5	2697	c.1943A>G	c.(1942-1944)GAG>GGG	p.E648G	SLC8A3_uc001xlu.2_Missense_Mutation_p.E5G|SLC8A3_uc001xlv.2_Missense_Mutation_p.E19G|SLC8A3_uc001xlw.2_Missense_Mutation_p.E645G|SLC8A3_uc001xlx.2_Missense_Mutation_p.E646G|SLC8A3_uc001xlz.2_Missense_Mutation_p.E642G|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Missense_Mutation_p.E5G	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	648	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CCTCTTGGCCTCCTCTTCTTC	0.453													C	70518795	T	C	70518795	3	2	63	1	0	0	0	0	1	0	0	0	14708	1551	54	3	856	3	SLC8A3	14	70518795	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	2464945	70518795	36830745	1304	46037											
MED6	10001	broad.mit.edu	37	chr14	71059641	71059641	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaccaataccctttggaaGgatgatatcgacagtatgac	9	10	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:71059641G>T	uc001xmf.2	-	5	452	c.422C>A	c.(421-423)CCT>CAT	p.P141H	MED6_uc010tth.1_Missense_Mutation_p.P148H|MED6_uc010tti.1_Missense_Mutation_p.P141H|MED6_uc001xmg.1_Missense_Mutation_p.P141H|MED6_uc010ttj.1_3'UTR	NM_005466	NP_005457	O75586	MED6_HUMAN	mediator of RNA polymerase II transcription,	141					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity				0				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		CCCTTTGGAAGGATGATATCG	0.373													T	71059641	G	T	71059641	3	4	63	1	0	0	0	0	1	0	0	0	9451	1000	35	5	334	5	MED6	14	71059641	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	540846	71059641	36289899	1305	46038											
DCAF4	26094	broad.mit.edu	37	chr14	73421139	73421139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacgtggtgacgggacaccGgcagtcctttgggaccaaca	13	12	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:73421139G>A	uc001xng.2	+	11	1173	c.953G>A	c.(952-954)CGG>CAG	p.R318Q	DCAF4_uc001xnj.2_Missense_Mutation_p.R319Q|DCAF4_uc010ttr.1_Missense_Mutation_p.R297Q|DCAF4_uc001xnh.2_Missense_Mutation_p.R218Q|DCAF4_uc010tts.1_Missense_Mutation_p.R258Q|DCAF4_uc010ttt.1_Missense_Mutation_p.R104Q|DCAF4_uc001xni.2_Intron|DCAF4_uc001xnk.2_Missense_Mutation_p.R318Q	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4 isoform 1	318						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)|skin(1)	3						ACGGGACACCGGCAGTCCTTT	0.537													A	73421139	G	A	73421139	3	1	63	1	0	0	0	0	1	0	0	0	4270	1116	39	1	994	1	DCAF4	14	73421139	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2361498	73421139	33928401	1306	46039											
C14orf43	91748	broad.mit.edu	37	chr14	74206623	74206623	+	Frame_Shift_Del	DEL	G	G	-													gctgggggggctgcaggggaGggggctgctccttgggagct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:74206622_74206622AG>A	uc010tud.1	-	0	337	c.90_90CT>T	c.(88-90)cctfs	p.P30fs	C14orf43_uc001xot.3_Frame_Shift_Del_p.P30fs|C14orf43_uc001xou.3_Frame_Shift_Del_p.P30fs|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GCTGCAGGGGAGGGGGCTGCT	0.647													-	74206623	G	-	74206623	7	5	63	1	0	1	0	1	0	0	0	0	1774	1000	35	0	3092	0	C14orf43	14	74206623	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	785484	74206623	33142917	1307	46040											
YLPM1	56252	broad.mit.edu	37	chr14	75265533	75265533	+	Frame_Shift_Del	DEL	A	A	-													agaaccaggagatggtggggAaaaaatgtatccatatcacc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:75265532_75265532GA>G	uc001xqj.4	+	4	3656	c.3532_3532GA>G	c.(3532-3534)gaafs	p.E1178fs	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	983	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGATGGTGGGGAAAAAATGTA	0.517													-	75265533	A	-	75265533	7	5	63	1	0	1	0	1	0	0	0	0	17483	246	9	0	3551	0	YLPM1	14	75265533	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	1058910	75265533	32084007	1308	46041											
YLPM1	56252	broad.mit.edu	37	chr14	75283784	75283784	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcattttgaccagttttggAgtgcagcaaaaaccaaggga	12	7	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:75283784A>G	uc001xqj.3	+	14	5960	c.5836A>G	c.(5836-5838)AGT>GGT	p.S1946G	YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Missense_Mutation_p.S429G	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1751					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCAGTTTTGGAGTGCAGCAAA	0.353													G	75283784	A	G	75283784	3	3	63	1	0	0	0	0	1	0	0	0	17483	304	11	3	5890	3	YLPM1	14	75283784	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	18251	75283784	32065756	1309	46042											
TMED10	10972	broad.mit.edu	37	chr14	75601704	75601704	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtataggacccgagtgtttgTtgactctaaaaaaaaacaaa	8	6	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:75601704T>C	uc001xrm.1	-	5	611	c.544A>G	c.(544-546)ACA>GCA	p.T182A	TMED10_uc010ash.1_RNA|TMED10_uc010asg.1_RNA|TMED10_uc010tuz.1_Missense_Mutation_p.T57A	NM_006827	NP_006818	P49755	TMEDA_HUMAN	transmembrane emp24 domain-containing protein 10	182	Lumenal (Potential).|GOLD.				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding				0				BRCA - Breast invasive adenocarcinoma(234;0.0126)		CGAGTGTTTGTTGACTCTAAA	0.433													C	75601704	T	C	75601704	3	2	63	1	0	0	0	0	1	0	0	0	16000	1725	60	3	119	3	TMED10	14	75601704	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	317920	75601704	31747836	1310	46043											
TTLL5	23093	broad.mit.edu	37	chr14	76238150	76238150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgatgaaagacagtggcGgtcagacgttcagtgccagt	14	9	2	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:76238150G>A	uc001xrx.2	+	21	2294	c.2089G>A	c.(2089-2091)GGT>AGT	p.G697S	TTLL5_uc010ask.1_Missense_Mutation_p.G711S|TTLL5_uc001xrz.2_Missense_Mutation_p.G272S|TTLL5_uc001xry.1_RNA	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	697					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		AGACAGTGGCGGTCAGACGTT	0.383													A	76238150	G	A	76238150	3	1	63	1	0	0	0	0	1	0	0	0	16727	1116	39	1	2167	1	TTLL5	14	76238150	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	636446	76238150	31111390	1311	46044											
NRXN3	9369	broad.mit.edu	37	chr14	79175877	79175877	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctttgccgtggaactcctCgatggcaacctgtacttgct	9	12	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:79175877C>T	uc001xun.2	+	4	911	c.420C>T	c.(418-420)CTC>CTT	p.L140L	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.L274L	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	513	Extracellular (Potential).|Laminin G-like 3.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGAACTCCTCGATGGCAACC	0.502													T	79175877	C	T	79175877	2	4	63	1	0	0	0	0	0	0	0	1	10667	871	31	1		1	NRXN3	14	79175877	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2937727	79175877	28173663	1312	46045											
SPATA7	55812	broad.mit.edu	37	chr14	88903905	88903905	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtttttagaacgactgttCgagcgacatataaaacaaaa	8	6	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:88903905C>T	uc001xwq.2	+	11	1330	c.1179C>T	c.(1177-1179)TTC>TTT	p.F393F	SPATA7_uc001xwr.2_Silent_p.F361F|SPATA7_uc001xws.2_Silent_p.F329F|SPATA7_uc001xwt.2_Silent_p.F287F|SPATA7_uc001xwu.2_Silent_p.F49F	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	spermatogenesis-associated protein 7 isoform a	393					response to stimulus|visual perception					ovary(1)	1						AACGACTGTTCGAGCGACATA	0.259													T	88903905	C	T	88903905	2	4	63	1	0	0	0	0	0	0	0	1	15013	883	31	1		1	SPATA7	14	88903905	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	9728028	88903905	18445635	1313	46046											
PTPN21	11099	broad.mit.edu	37	chr14	88945374	88945374	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagcggcctgacgtggtgaGgtcggactccgacatggagg	18	9	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:88945374G>T	uc001xwv.3	-	13	2732	c.2401C>A	c.(2401-2403)CTC>ATC	p.L801I	PTPN21_uc010twc.1_Missense_Mutation_p.L597I	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	801						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						GACGTGGTGAGGTCGGACTCC	0.647													T	88945374	G	T	88945374	3	4	63	1	0	0	0	0	1	0	0	0	12786	1000	35	5	1151	5	PTPN21	14	88945374	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	41469	88945374	18404166	1314	46047											
TRIP11	9321	broad.mit.edu	37	chr14	92487911	92487911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatctacctgagcaatatGcctccaatggccaacttcag	6	12	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:92487911G>A	uc001xzy.2	-	4	1365	c.577C>T	c.(577-579)CAT>TAT	p.H193Y		NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	193	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		TGAGCAATATGCCTCCAATGG	0.318			T	PDGFRB	AML								A	92487911	G	A	92487911	3	1	63	1	0	0	0	0	1	0	0	0	16552	1319	46	2	5434	2	TRIP11	14	92487911	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3542537	92487911	14861629	1315	46048											
CPSF2	53981	broad.mit.edu	37	chr14	92608661	92608661	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attggcactcctaaataatgTcagttacaatgtggtggagt	10	6	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:92608661T>C	uc001yah.1	+	8	1052	c.815T>C	c.(814-816)GTC>GCC	p.V272A		NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2	272					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			ovary(2)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		CTAAATAATGTCAGTTACAAT	0.428													C	92608661	T	C	92608661	3	2	63	1	0	0	0	0	1	0	0	0	3825	1667	58	3	837	3	CPSF2	14	92608661	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	120750	92608661	14740879	1316	46049											
RIN3	79890	broad.mit.edu	37	chr14	93118854	93118854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgagctctgcacacaggCgatggccttggagacaccca	12	14	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:93118854C>T	uc001yap.2	+	6	1612	c.1460C>T	c.(1459-1461)GCG>GTG	p.A487V	RIN3_uc010auk.2_Missense_Mutation_p.A149V|RIN3_uc001yaq.2_Missense_Mutation_p.A412V|RIN3_uc001yar.1_Missense_Mutation_p.A149V|RIN3_uc001yas.1_Missense_Mutation_p.A149V	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	487	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				TGCACACAGGCGATGGCCTTG	0.637													T	93118854	C	T	93118854	3	4	63	1	0	0	0	0	1	0	0	0	13373	768	27	1	1482	1	RIN3	14	93118854	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	510193	93118854	14230686	1317	46050											
RIN3	79890	broad.mit.edu	37	chr14	93154577	93154577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgccctgcctggtggtgCgggagcccaacttcctgtga	14	15	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:93154577C>T	uc001yap.2	+	10	3090	c.2938C>T	c.(2938-2940)CGG>TGG	p.R980W	RIN3_uc010auk.2_Missense_Mutation_p.R642W|RIN3_uc001yaq.2_Missense_Mutation_p.R905W	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	980					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				CCTGGTGGTGCGGGAGCCCAA	0.756													T	93154577	C	T	93154577	3	4	63	1	0	0	0	0	1	0	0	0	13373	759	27	1	2976	1	RIN3	14	93154577	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	35723	93154577	14194963	1318	46051											
BTBD7	55727	broad.mit.edu	37	chr14	93761188	93761188	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagggtggcaagaccagaggTtctcttttttttgtcttgtg	13	6	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:93761188T>C	uc001ybo.2	-	3	504	c.178A>G	c.(178-180)ACC>GCC	p.T60A	BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_5'UTR|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_5'UTR|BTBD7_uc001ybr.2_Missense_Mutation_p.T60A	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	60										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AGACCAGAGGTTCTCTTTTTT	0.458													C	93761188	T	C	93761188	3	2	63	1	0	0	0	0	1	0	0	0	1546	1725	60	3	3331	3	BTBD7	14	93761188	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	606611	93761188	13588352	1319	46052											
COX8C	341947	broad.mit.edu	37	chr14	93813633	93813633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgcctctcctgcgtgggCgctgtcctgcccgccgccac	11	18	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:93813633C>T	uc001ybt.1	+	1	97	c.19C>T	c.(19-21)CGC>TGC	p.R7C	KIAA1409_uc001ybs.1_Intron	NM_182971	NP_892016	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIc	7						integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity				0		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		CCTGCGTGGGCGCTGTCCTGC	0.706													T	93813633	C	T	93813633	3	4	63	1	0	0	0	0	1	0	0	0	3786	768	27	1	21	1	COX8C	14	93813633	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	52445	93813633	13535907	1320	46053											
SERPINA3	12	broad.mit.edu	37	chr14	95058423	95058423	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagctgtggtggaggtggaCgagtcgggaaccagagcagc	18	7	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:95058423C>T	uc001ydo.3	+	1	29	c.-859C>T	c.(-861--857)GACGA>GATGA		SERPINA5_uc001ydm.2_Silent_p.D356D	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3						acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TGGAGGTGGACGAGTCGGGAA	0.572													T	95058423	C	T	95058423	1	4	63	1	0	0	0	0	0	0	0	0	14090	535	19	1		1	SERPINA3	14	95058423	Translation_Start_Site	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1244790	95058423	12291117	1321	46054											
SETD3	84193	broad.mit.edu	37	chr14	99865332	99865332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttttcctccatctgttggCgatagtattcccggttgaca	8	12	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:99865332C>T	uc001ygc.2	-	13	1639	c.1469G>A	c.(1468-1470)CGC>CAC	p.R490H		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	SET domain containing 3 isoform a	490					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity				0		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CATCTGTTGGCGATAGTATTC	0.498													T	99865332	C	T	99865332	3	4	63	1	0	0	0	0	1	0	0	0	14132	768	27	1	319	1	SETD3	14	99865332	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4806909	99865332	7484208	1322	46055											
YY1	7528	broad.mit.edu	37	chr14	100706003	100706003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcccgcgccggccggcgGcgacgacgactacattgaac	15	15	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:100706003G>A	uc001ygy.1	+	1	902	c.422G>A	c.(421-423)GGC>GAC	p.G141D		NM_003403	NP_003394	P25490	TYY1_HUMAN	YY1 transcription factor	141					cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding				0		Melanoma(154;0.152)				CCGGCCGGCGGCGACGACGAC	0.468													A	100706003	G	A	100706003	3	1	63	1	0	0	0	0	1	0	0	0	17504	1203	42	2	424	2	YY1	14	100706003	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	840671	100706003	6643537	1323	46056											
DYNC1H1	1778	broad.mit.edu	37	chr14	102471550	102471550	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatggagcagcccccactcCgaaggcggaagctagaacac	11	14	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:102471550C>T	uc001yks.2	+	26	5574	c.5410C>T	c.(5410-5412)CGA>TGA	p.R1804*		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1804	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						GCCCCCACTCCGAAGGCGGAA	0.532													T	102471550	C	T	102471550	4	4	63	1	0	0	0	0	0	1	0	0	4841	644	23	1	5512	1	DYNC1H1	14	102471550	Nonsense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1765547	102471550	4877990	1324	46057											
HSP90AA1	3320	broad.mit.edu	37	chr14	102548569	102548571	+	In_Frame_Del	DEL	GTC	GTC	-													accagatccttcacagacttGtcgttcttatcagcctctgc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:102548568_102548570TGTC>T	uc001yku.4	-	9	2157_2159	c.1967_1969GACA>A	c.(1966-1971)gacaag>gAag	p.656_657DK>E	HSP90AA1_uc001ykv.4_In_Frame_Del_p.778_779DK>E	NM_005348	NP_005339	P07900	HS90A_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 2, mRNA.	656					G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TTCACAGACTTGTCGTTCTTATC	0.458													-	102548571	GTC	-	102548569	7	5	63	1	0	1	0	1	0	0	0	0	7401	1368	48	0	238	0	HSP90AA1	14	102548569	In_Frame_Del	DEL	GTC	TCGA-BR-8078-01A-11D-2340-08	77019	102548569	4800971	1325	46058											
ZNF839	55778	broad.mit.edu	37	chr14	102807760	102807760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgttccaggcgggcccGcagcttcaggcactggctaa	14	13	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:102807760G>A	uc001ylo.2	+	8	2030	c.1680G>A	c.(1678-1680)CCG>CCA	p.P560P	ZNF839_uc010awk.1_Silent_p.P676P|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Intron|ZNF839_uc001ylr.2_Silent_p.P485P|ZNF839_uc001yls.2_Silent_p.P177P|ZNF839_uc001ylt.2_Silent_p.P150P	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	zinc finger protein 839	560						intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)	2						AGGCGGGCCCGCAGCTTCAGG	0.557													A	102807760	G	A	102807760	2	1	63	1	0	0	0	0	0	0	0	1	18185	1074	38	1		1	ZNF839	14	102807760	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	259191	102807760	4541780	1326	46059											
CDC42BPB	9578	broad.mit.edu	37	chr14	103447236	103447237	+	Frame_Shift_Ins	INS	-	-	T													gaccttcaaaaaacgcatgcINStttttgaaatcctctattcc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:103447236_103447237insT	uc001ymi.1	-	8	1245_1246	c.1013_1014insA	c.(1012-1014)AAGfs	p.K338fs		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	338	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AAAACGCATGCTTTTTGAAATC	0.455													T	103447237	-	T	103447236	7	5	63	1	0	1	1	0	0	0	0	0	3073	796	28	0	4241	0	CDC42BPB	14	103447236	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	639476	103447236	3902304	1327	46060	175	2									
CDC42BPB	9578	broad.mit.edu	37	chr14	103447237	103447238	+	Frame_Shift_Ins	INS	-	-	T													accttcaaaaaacgcatgctINSttttgaaatcctctattcca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:103447236_103447237C>CT	uc001ymi.1	-	7	1245_1246	c.1013_1014G>AG	c.(1012-1014)aagfs	p.K338fs		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	338	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.K338fs*8(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AAAACGCATGCTTTTTGAAATC	0.455													T	103447238	-	T	103447237	7	5	63	1	0	1	1	0	0	0	0	0	3073	1609	56	0	4242	0	CDC42BPB	14	103447237	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1	103447237	3902303	1328	46061	175	2									
BAG5	9529	broad.mit.edu	37	chr14	104026839	104026839	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggtcagcgatcagcccCgagagcacacaggataagtg	12	12	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:104026839C>T	uc001yni.1	-	2	897	c.663G>A	c.(661-663)TCG>TCA	p.S221S	KLC1_uc010tyd.1_5'Flank|BAG5_uc001ynh.1_Silent_p.S262S|BAG5_uc001ynj.1_Silent_p.S221S|C14orf153_uc001ynl.3_5'Flank|C14orf153_uc010tyc.1_5'Flank	NM_004873	NP_004864	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5 isoform b	221	BAG 3.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			ovary(2)	2		Melanoma(154;0.155)	Epithelial(46;0.144)			CGATCAGCCCCGAGAGCACAC	0.493													T	104026839	C	T	104026839	2	4	63	1	0	0	0	0	0	0	0	1	1290	639	23	1		1	BAG5	14	104026839	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	579602	104026839	3322701	1329	46062											
AHNAK2	113146	broad.mit.edu	37	chr14	105406489	105406489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatctgagatcaggtttgGcaaagcccaaactgggaatg	13	7	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:105406489G>A	uc010axc.1	-	7	15419	c.15299C>T	c.(15298-15300)GCC>GTC	p.A5100V	AHNAK2_uc001ypx.2_Missense_Mutation_p.A5000V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5100						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)			ATCAGGTTTGGCAAAGCCCAA	0.572													A	105406489	G	A	105406489	3	1	63	1	0	0	0	0	1	0	0	0	415	1203	42	2	2092	2	AHNAK2	14	105406489	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1379650	105406489	1943051	1330	46063											
PACS2	23241	broad.mit.edu	37	chr14	105843234	105843234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatggaggatgacgacagcGtcctcagcacccccaagccg	11	15	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:105843234G>A	uc001yqt.2	+	9	1106	c.931G>A	c.(931-933)GTC>ATC	p.V311I	PACS2_uc001yqs.2_Missense_Mutation_p.V236I|PACS2_uc001yqv.2_Missense_Mutation_p.V311I|PACS2_uc001yqu.2_Missense_Mutation_p.V311I	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	311					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TGACGACAGCGTCCTCAGCAC	0.667													A	105843234	G	A	105843234	3	1	63	1	0	0	0	0	1	0	0	0	11373	1145	40	1	965	1	PACS2	14	105843234	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	436745	105843234	1506306	1331	46064											
C15orf2	23742	broad.mit.edu	37	chr15	24922914	24922914	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattccacaataccaccccaAgttttaaccaactctttgga	3	13	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:24922914A>G	uc001ywo.2	+	1	2374	c.1900A>G	c.(1900-1902)AGT>GGT	p.S634G		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	634					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TACCACCCCAAGTTTTAACCA	0.493													G	24922914	A	G	24922914	3	3	63	1	0	0	0	0	1	0	0	0	1784	72	3	3	1902	3	C15orf2	15	24922914	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08		24922914	77608478	1332	46065											
TJP1	7082	broad.mit.edu	37	chr15	30024733	30024733	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaggcctcagaaatccagCtggagagaaattcacatgaa	9	9	2	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:30024733C>T	uc001zcr.2	-	15	2397	c.1922_splice	c.e15-1	p.A641_splice	TJP1_uc010azl.2_Splice_Site_p.A629_splice|TJP1_uc001zcq.2_Splice_Site_p.A645_splice|TJP1_uc001zcs.2_Splice_Site_p.A641_splice	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a						cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AGAAATCCAGCTGGAGAGAAA	0.343													T	30024733	C	T	30024733	5	4	63	1	0	0	0	0	0	0	1	0	15926	811	28	2	3381	2	TJP1	15	30024733	Splice_Site	SNP	C	TCGA-BR-8078-01A-11D-2340-08	5101819	30024733	72506659	1333	46066											
TRPM1	4308	broad.mit.edu	37	chr15	31362235	31362235	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctgaatgcctttctcaccAtggctttattggaatatccg	8	10	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:31362235A>G	uc001zfm.2	-	3	340	c.212T>C	c.(211-213)ATG>ACG	p.M71T	TRPM1_uc010azy.2_5'Flank|TRPM1_uc001zfl.2_5'Flank|TRPM1_uc001zfn.3_Missense_Mutation_p.M71T|uc010ubn.1_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	71	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTTTCTCACCATGGCTTTATT	0.512													G	31362235	A	G	31362235	3	3	63	1	0	0	0	0	1	0	0	0	16582	231	8	3	4699	3	TRPM1	15	31362235	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	1337502	31362235	71169157	1334	46067											
FMN1	342184	broad.mit.edu	37	chr15	33256350	33256350	+	Frame_Shift_Del	DEL	T	T	-													tcataagtctctgacagaggTtttttcttctgttgagttgt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:33256349_33256349GT>G	uc001zhf.4	-	4	2428	c.2428_2428AC>C	c.(2428-2430)cctfs	p.P810fs		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	1033	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCTGACAGAGGTTTTTTCTTC	0.368													-	33256350	T	-	33256350	7	5	63	1	0	1	0	1	0	0	0	0	5949	1722	60	0	1215	0	FMN1	15	33256350	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	1894115	33256350	69275042	1335	46068											
ZNF770	54989	broad.mit.edu	37	chr15	35273805	35273807	+	In_Frame_Del	DEL	AAA	AAA	-													ctgatgctctgaataactgcAaaaaggattgctttgctctg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:35273805_35273807delAAA	uc001ziw.2	-	3	2140_2142	c.1829_1831delTTT	c.(1828-1833)TTTTGC>TGC	p.F610del		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	610					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GAATAACTGCAAAAAGGATTGCT	0.424													-	35273807	AAA	-	35273805	7	5	63	1	0	1	0	1	0	0	0	0	18140	130	5	0	248	0	ZNF770	15	35273805	In_Frame_Del	DEL	AAA	TCGA-BR-8078-01A-11D-2340-08	2017455	35273805	67257587	1336	46069											
PLCB2	5330	broad.mit.edu	37	chr15	40581555	40581555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcctctccaagttctccGtcatctgggtgggagtggat	14	10	4	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:40581555G>A	uc001zld.2	-	31	3573	c.3272C>T	c.(3271-3273)ACG>ATG	p.T1091M	PLCB2_uc001zlc.2_Missense_Mutation_p.T75M|PLCB2_uc010bbo.2_Missense_Mutation_p.T1087M|PLCB2_uc010ucm.1_Missense_Mutation_p.T1076M	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1091	Potential.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CAAGTTCTCCGTCATCTGGGT	0.388													A	40581555	G	A	40581555	3	1	63	1	0	0	0	0	1	0	0	0	12028	1145	40	1	293	1	PLCB2	15	40581555	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	5307750	40581555	61949837	1337	46070											
IVD	3712	broad.mit.edu	37	chr15	40699905	40699905	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggagatcgatcgcagCaatgagttcaagaacctgcg	12	11	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:40699905C>T	uc001zls.3	+	2	556	c.222C>T	c.(220-222)AGC>AGT	p.S74S	IVD_uc001zlq.2_Intron	NM_002225	NP_002216	P26440	IVD_HUMAN	isovaleryl Coenzyme A dehydrogenase isoform 1	71					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			ovary(1)	1		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		TCGATCGCAGCAATGAGTTCA	0.587													T	40699905	C	T	40699905	2	4	63	1	0	0	0	0	0	0	0	1	7928	709	25	2		2	IVD	15	40699905	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	118350	40699905	61831487	1338	46071											
EXD1	161829	broad.mit.edu	37	chr15	41507974	41507974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgaggacaatacttaccGcagcaccaaacttctgctgg	9	11	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:41507974G>A	uc001znk.2	-	4	463	c.272C>T	c.(271-273)GCG>GTG	p.A91V	EXD1_uc010ucv.1_Missense_Mutation_p.A149V	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	91	3'-5' exonuclease.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			ovary(1)	1						AATACTTACCGCAGCACCAAA	0.328													A	41507974	G	A	41507974	3	1	63	1	0	0	0	0	1	0	0	0	5297	1101	38	1	1300	1	EXD1	15	41507974	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	808069	41507974	61023418	1339	46072											
TGM5	9333	broad.mit.edu	37	chr15	43552730	43552730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctcctccgtgtggtgccGcacattatttctggagctct	10	12	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:43552730G>A	uc001zrd.1	-	2	66	c.58C>T	c.(58-60)CGG>TGG	p.R20W	TGM5_uc001zre.1_Missense_Mutation_p.R20W	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	20					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GTGTGGTGCCGCACATTATTT	0.577													A	43552730	G	A	43552730	3	1	63	1	0	0	0	0	1	0	0	0	15830	1086	38	1	2152	1	TGM5	15	43552730	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2044756	43552730	58978662	1340	46073											
TGM7	116179	broad.mit.edu	37	chr15	43585153	43585153	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagctctgacggcttgggtcCtgtgtaggagagaatgaccc	14	10	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:43585153C>A	uc001zrf.1	-	3	199	c.194_splice	c.e3-1	p.G65_splice		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7						peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GGCTTGGGTCCTGTGTAGGAG	0.567													A	43585153	C	A	43585153	5	1	63	1	0	0	0	0	0	0	1	0	15832	695	24	5	1983	5	TGM7	15	43585153	Splice_Site	SNP	C	TCGA-BR-8078-01A-11D-2340-08	32423	43585153	58946239	1341	46074											
C15orf43	145645	broad.mit.edu	37	chr15	45253731	45253731	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccacagaaataagaagAaaaattggtagttttatttg	7	5	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:45253731A>G	uc001zuk.2	+	4	314	c.297A>G	c.(295-297)AGA>AGG	p.R99R		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	hypothetical protein LOC145645	99											0		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		AAATAAGAAGAAAAATTGGTA	0.294													G	45253731	A	G	45253731	2	3	63	1	0	0	0	0	0	0	0	1	1797	243	9	3		3	C15orf43	15	45253731	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	1668578	45253731	57277661	1342	46075											
DUOXA2	405753	broad.mit.edu	37	chr15	45408763	45408763	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attgactacaacgagcagttCacctggcgtctgaaagagaa	10	9	2	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:45408763C>T	uc001zuo.2	+	4	670	c.390C>T	c.(388-390)TTC>TTT	p.F130F	DUOX2_uc010bea.2_5'Flank|DUOX2_uc001zun.2_5'Flank|DUOXA2_uc010beb.2_RNA	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN	dual oxidase activator 2	130	Extracellular (Potential).				protein transport	endoplasmic reticulum membrane|integral to membrane					0		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		ACGAGCAGTTCACCTGGCGTC	0.622													T	45408763	C	T	45408763	2	4	63	1	0	0	0	0	0	0	0	1	4803	825	29	4		4	DUOXA2	15	45408763	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	155032	45408763	57122629	1343	46076											
SPATA5L1	79029	broad.mit.edu	37	chr15	45710841	45710841	+	Frame_Shift_Del	DEL	T	T	-													aacctcgcagcagaaacctgTtttttttctggagctgatct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:45710840_45710840GT>G	uc001zve.3	+	6	2163	c.2054_2054GT>G	c.(2053-2055)tgtfs	p.C685fs	SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	685						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GCAGAAACCTGTTTTTTTTCT	0.363													-	45710841	T	-	45710841	7	5	63	1	0	1	0	1	0	0	0	0	15011	1731	60	0	2081	0	SPATA5L1	15	45710841	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	302078	45710841	56820551	1344	46077											
DUT	1854	broad.mit.edu	37	chr15	48633714	48633714	+	Splice_Site	DEL	A	A	-													actattctttctttgaagtcAaaaaaggtgatcgaattgca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:48633713_48633713CA>C	uc001zws.3	+	6	724	c.632_splice	c.e6-1	p.V211_splice	DUT_uc001zwt.3_Splice_Site_p.V100_splice|DUT_uc001zww.3_Splice_Site_p.V123_splice	NM_001025248	NP_001020420	P33316	DUT_HUMAN	Homo sapiens deoxyuridine triphosphatase (DUT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	211					DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process	mitochondrion|nucleoplasm	dUTP diphosphatase activity|protein binding			kidney(2)	2		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		TCTTTGAAGTCAAAAAAGGTG	0.318								Modulation of nucleotide pools					-	48633714	A	-	48633714	8	5	63	1	0	1	0	1	0	0	1	0	4833	131	5	0	672	0	DUT	15	48633714	Splice_Site	DEL	A	TCGA-BR-8078-01A-11D-2340-08	2922873	48633714	53897678	1345	46078											
FBN1	2200	broad.mit.edu	37	chr15	48796031	48796031	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggttccccaaatgcatacTcagtgctggcgcaacagcat	9	12	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:48796031T>G	uc001zwx.1	-	17	2394	c.2066A>C	c.(2065-2067)GAG>GCG	p.E689A		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	689	TB 3.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AAATGCATACTCAGTGCTGGC	0.507													G	48796031	T	G	48796031	3	3	63	1	0	0	0	0	1	0	0	0	5702	1551	54	5	6749	5	FBN1	15	48796031	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	162317	48796031	53735361	1346	46079											
TRPM7	54822	broad.mit.edu	37	chr15	50905919	50905919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttacctttggtcggtagggCtgtgctgtcttaatgaaatg	12	6	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:50905919C>T	uc001zyt.3	-	15	2019	c.1755G>A	c.(1753-1755)CAG>CAA	p.Q585Q	TRPM7_uc010bew.1_Silent_p.Q585Q|TRPM7_uc001zyu.2_Silent_p.Q143Q	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	585	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GTCGGTAGGGCTGTGCTGTCT	0.318													T	50905919	C	T	50905919	2	4	63	1	0	0	0	0	0	0	0	1	16588	796	28	2		2	TRPM7	15	50905919	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2109888	50905919	51625473	1347	46080											
MYO5C	55930	broad.mit.edu	37	chr15	52504010	52504011	+	Frame_Shift_Ins	INS	-	-	CA													ttcagagagtctgcgtagcgINScacacacatgaacaggatat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:52504010_52504011insCA	uc010bff.2	-	35	4349_4350	c.4212_4213insTG	c.(4210-4215)GTGCGCfs	p.V1404fs	MYO5C_uc010uga.1_RNA	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	1404_1405						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		TCTGCGTAGCGCACACACATGA	0.515													CA	52504011	-	CA	52504010	7	5	63	1	0	1	1	0	0	0	0	0	10080	1087	38	0	1043	0	MYO5C	15	52504010	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1598091	52504010	50027382	1348	46081	176	2									
MYO5C	55930	broad.mit.edu	37	chr15	52504011	52504012	+	Frame_Shift_Ins	INS	-	-	CA													tcagagagtctgcgtagcgcINSacacacatgaacaggatatg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:52504010_52504011G>GCA	uc010bff.3	-	34	4374_4375	c.4212_4213C>TGC	c.(4210-4215)gtgcgcfs	p.V1404fs	MYO5C_uc010uga.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1404						myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCTGCGTAGCGCACACACATGA	0.515													CA	52504012	-	CA	52504011	7	5	63	1	0	1	1	0	0	0	0	0	10080	697	25	0	1044	0	MYO5C	15	52504011	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1	52504011	50027381	1349	46082	176	2									
MYO5C	55930	broad.mit.edu	37	chr15	52564923	52564923	+	Splice_Site	DEL	A	A	-													cttggcatttccaacggcctAaaaaaaataagactctattg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:52564922_52564922TA>T	uc010bff.3	-	6	769	c.607_splice	c.e6-1	p.A203_splice	MYO5C_uc010uga.2_Splice_Site|MYO5C_uc010ugb.2_Splice_Site|MYO5C_uc010ugc.2_Splice_Site_p.A166_splice	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	203	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCCAACGGCCTAAAAAAAATA	0.363													-	52564923	A	-	52564923	8	5	63	1	0	1	0	1	0	0	1	0	10080	377	13	0		0	MYO5C	15	52564923	Splice_Site	DEL	A	TCGA-BR-8078-01A-11D-2340-08	60912	52564923	49966469	1350	46083											
UNC13C	440279	broad.mit.edu	37	chr15	54307549	54307549	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtatggaacaaaagcacaCagagtctgagtgggtatgag	13	5	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:54307549C>T	uc002ack.2	+	1	2449	c.2449C>T	c.(2449-2451)CAG>TAG	p.Q817*		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	817					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAAAAGCACACAGAGTCTGAG	0.428													T	54307549	C	T	54307549	4	4	63	1	0	0	0	0	0	1	0	0	16983	479	17	4	2451	4	UNC13C	15	54307549	Nonsense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1742626	54307549	48223843	1351	46084											
MNS1	55329	broad.mit.edu	37	chr15	56736027	56736027	+	Frame_Shift_Del	DEL	T	T	-													ataccttcgcattgcattcaTtttttctaacttttgttgtt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:56736026_56736026AT>A	uc002adr.2	-	5	878	c.713_713AT>T	c.(712-714)atgfs	p.M238fs	MNS1_uc010bfo.2_Frame_Shift_Del_p.M106fs|TEX9_uc002adp.3_Intron|TEX9_uc010ugl.2_Intron	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN	Homo sapiens meiosis-specific nuclear structural 1 (MNS1), mRNA.	238	Glu-rich.				meiosis					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		CATTGCATTCATTTTTTCTAA	0.289													-	56736027	T	-	56736027	7	5	63	1	0	1	0	1	0	0	0	0	9677	1493	52	0	795	0	MNS1	15	56736027	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	2428478	56736027	45795365	1352	46085											
TCF12	6938	broad.mit.edu	37	chr15	57489983	57489984	+	Frame_Shift_Ins	INS	-	-	A													tctgcagatcccttgcaagcINSaaaaaaagtcagaaaggtgc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:57489983_57489984insA	uc002aec.2	+	8	823_824	c.539_540insA	c.(538-540)GCAfs	p.A180fs	TCF12_uc010ugm.1_Frame_Shift_Ins_p.A232fs|TCF12_uc010ugn.1_Frame_Shift_Ins_p.A176fs|TCF12_uc002aea.2_Frame_Shift_Ins_p.A180fs|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Frame_Shift_Ins_p.A180fs|TCF12_uc002aed.2_Frame_Shift_Ins_p.A180fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	transcription factor 12 isoform b	180					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(2)|lung(1)	8		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CCCTTGCAAGCAAAAAAAGTCA	0.347			T	TEC	extraskeletal myxoid chondrosarcoma								A	57489984	-	A	57489983	7	5	63	1	0	1	1	0	0	0	0	0	15684	710	25	0	565	0	TCF12	15	57489983	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	753956	57489983	45041409	1353	46086	177	2									
TCF12	6938	broad.mit.edu	37	chr15	57489984	57489985	+	Frame_Shift_Ins	INS	-	-	A													ctgcagatcccttgcaagcaINSaaaaaagtcagaaaggtgcc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:57489983_57489984C>CA	uc002aec.3	+	7	823_824	c.539_540C>CA	c.(538-540)gcafs	p.A180fs	TCF12_uc010ugm.1_Frame_Shift_Ins_p.A232fs|TCF12_uc010ugn.1_Frame_Shift_Ins_p.A176fs|TCF12_uc002aea.3_Frame_Shift_Ins_p.A180fs|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Frame_Shift_Ins_p.A180fs|TCF12_uc002aed.3_Frame_Shift_Ins_p.A180fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	180					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CCCTTGCAAGCAAAAAAAGTCA	0.347			T	TEC	extraskeletal myxoid chondrosarcoma								A	57489985	-	A	57489984	7	5	63	1	0	1	1	0	0	0	0	0	15684	117	5	0	566	0	TCF12	15	57489984	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1	57489984	45041408	1354	46087	177	2									
ADAM10	102	broad.mit.edu	37	chr15	58902544	58902544	+	Frame_Shift_Del	DEL	T	T	-													agctctggactaaaaattgcTtttttaagcctagctagagg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:58902543_58902543CT>C	uc002afd.1	-	13	2422	c.1978_1978AG>G	c.(1978-1980)gcafs	p.A660fs	ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Frame_Shift_Del_p.A359fs|ADAM10_uc002afe.1_Intron|ADAM10_uc002aff.1_Frame_Shift_Del_p.A197fs	NM_001110	NP_001101	O14672	ADA10_HUMAN	Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.	660	Cys-rich.				Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|protein phosphorylation|response to tumor necrosis factor	Golgi-associated vesicle|cell surface|endomembrane system|integral to membrane|nucleus|plasma membrane	SH3 domain binding|integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CTAAAAATTGCTTTTTTAAGC	0.363													-	58902544	T	-	58902544	7	5	63	1	0	1	0	1	0	0	0	0	234	1606	56	0	281	0	ADAM10	15	58902544	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	1412560	58902544	43628848	1355	46088											
FAM63B	54629	broad.mit.edu	37	chr15	59146784	59146784	+	Frame_Shift_Del	DEL	A	A	-													agataaagaaaaagaaaaggAaaaaaatagctgtgttattt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:59146784delA	uc002afj.2	+	9	2043	c.1841delA	c.(1840-1842)GAAfs	p.E614fs	FAM63B_uc002afi.2_Frame_Shift_Del_p.E613fs|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	hypothetical protein LOC54629 isoform a	614										central_nervous_system(1)	1						AAAGAAAAGGAAAAAAATAGC	0.408													-	59146784	A	-	59146784	7	5	63	1	0	1	0	1	0	0	0	0	5597	246	9	0	1875	0	FAM63B	15	59146784	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	244240	59146784	43384608	1356	46089											
LDHAL6B	92483	broad.mit.edu	37	chr15	59499291	59499291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccccgtgagcaagatggCgactgtgaagagtgagctta	13	10	0	5			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:59499291C>T	uc002agb.2	+	1	250	c.152C>T	c.(151-153)GCG>GTG	p.A51V	MYO1E_uc002aga.2_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	51					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding				0					NADH(DB00157)	AGCAAGATGGCGACTGTGAAG	0.577													T	59499291	C	T	59499291	3	4	63	1	0	0	0	0	1	0	0	0	8700	768	27	1	154	1	LDHAL6B	15	59499291	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	352507	59499291	43032101	1357	46090											
RORA	6095	broad.mit.edu	37	chr15	60803702	60803702	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttgtaggtgggcgtcagCggctcagcctctccaggctg	15	11	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:60803702C>T	uc002agv.2	-	6	798	c.642G>A	c.(640-642)CCG>CCA	p.P214P	uc002ags.1_Intron|RORA_uc002agt.3_Silent_p.P126P|RORA_uc002agw.2_Silent_p.P206P|RORA_uc002agx.2_Silent_p.P181P	NM_134260	NP_599022	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform b	214	Hinge.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						TGGGCGTCAGCGGCTCAGCCT	0.577													T	60803702	C	T	60803702	2	4	63	1	0	0	0	0	0	0	0	1	13528	755	27	1		1	RORA	15	60803702	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1304411	60803702	41727690	1358	46091											
HERC1	8925	broad.mit.edu	37	chr15	63967208	63967208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagatatgttaggtccagCagcacagaagccgtcaggcc	13	10	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:63967208C>T	uc002amp.2	-	38	7327	c.7179G>A	c.(7177-7179)CTG>CTA	p.L2393L		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2393					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TTAGGTCCAGCAGCACAGAAG	0.498													T	63967208	C	T	63967208	2	4	63	1	0	0	0	0	0	0	0	1	7057	697	25	2		2	HERC1	15	63967208	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3163506	63967208	38564184	1359	46092											
HERC1	8925	broad.mit.edu	37	chr15	64045263	64045263	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taggtttatacactctgttgGtatcaccatgaccaagttta	7	8	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:64045263G>C	uc002amp.2	-	8	1944	c.1796C>G	c.(1795-1797)ACC>AGC	p.T599S	HERC1_uc010uil.1_Intron|HERC1_uc010bgt.1_Missense_Mutation_p.T599S	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	599	RCC1 5.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						CACTCTGTTGGTATCACCATG	0.338													C	64045263	G	C	64045263	3	2	63	1	0	0	0	0	1	0	0	0	7057	1261	44	5	13073	5	HERC1	15	64045263	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	78055	64045263	38486129	1360	46093											
ANP32A	8125	broad.mit.edu	37	chr15	69072443	69072443	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcatcatcttctccctcatCttcaggttctcgttttcgct	5	14	8	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:69072443C>A	uc002arl.2	-	7	898	c.727G>T	c.(727-729)GAT>TAT	p.D243Y		NM_006305	NP_006296	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32	243	Interaction with E4F1 (By similarity).|Asp/Glu-rich (highly acidic).				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding				0						TCTCCCTCATCTTCAGGTTCT	0.413													A	69072443	C	A	69072443	3	1	63	1	0	0	0	0	1	0	0	0	705	913	32	5	26	5	ANP32A	15	69072443	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	5027180	69072443	33458949	1361	46094											
THSD4	79875	broad.mit.edu	37	chr15	71535347	71535347	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccacggtgtggggacccatgGggcaactcagagcttctctc	13	13	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:71535347G>C	uc002atb.1	+	4	903	c.824G>C	c.(823-825)GGG>GCG	p.G275A	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	275	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						GGGACCCATGGGGCAACTCAG	0.537													C	71535347	G	C	71535347	3	2	63	1	0	0	0	0	1	0	0	0	15875	1232	43	5	838	5	THSD4	15	71535347	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2462904	71535347	30996045	1362	46095											
SNX33	257364	broad.mit.edu	37	chr15	75949395	75949395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattcgcaggcgctgccgcGtggtgggtttcgccctgcag	16	13	0	0	rs140532329		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:75949395G>A	uc002bau.2	+	2	1660	c.1564G>A	c.(1564-1566)GTG>ATG	p.V522M	SNX33_uc002bav.2_Missense_Mutation_p.V135M	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	sorting nexin 33	522	BAR.				cell communication		phosphatidylinositol binding|protein binding			ovary(1)	1						GCGCTGCCGCGTGGTGGGTTT	0.622													A	75949395	G	A	75949395	3	1	63	1	0	0	0	0	1	0	0	0	14903	1145	40	1	1570	1	SNX33	15	75949395	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	4414048	75949395	26581997	1363	46096											
C15orf27	123591	broad.mit.edu	37	chr15	76496111	76496111	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccagagccagctgtgtgtAtggtcaccacggccgcaata	11	13	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:76496111A>G	uc002bbq.2	+	11	1206	c.1051A>G	c.(1051-1053)ATG>GTG	p.M351V	C15orf27_uc010bkp.2_Missense_Mutation_p.M167V|C15orf27_uc002bbr.2_Missense_Mutation_p.M167V|C15orf27_uc002bbs.2_Missense_Mutation_p.M29V	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	hypothetical protein LOC123591	351						integral to membrane					0						AGCTGTGTGTATGGTCACCAC	0.592													G	76496111	A	G	76496111	3	3	63	1	0	0	0	0	1	0	0	0	1788	449	16	3	1089	3	C15orf27	15	76496111	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	546716	76496111	26035281	1364	46097											
TMC3	342125	broad.mit.edu	37	chr15	81636343	81636343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctatgagcagaatgctcGccacggtgaagagcatgtca	12	9	2	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:81636343G>A	uc002bgo.1	-	14	1562	c.1562C>T	c.(1561-1563)GCG>GTG	p.A521V	TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.A521V	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	521	Helical; (Potential).					integral to membrane				ovary(1)|liver(1)	2						CAGAATGCTCGCCACGGTGAA	0.517													A	81636343	G	A	81636343	3	1	63	1	0	0	0	0	1	0	0	0	15983	1087	38	1	1776	1	TMC3	15	81636343	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	5140232	81636343	20895049	1365	46098											
EFTUD1	79631	broad.mit.edu	37	chr15	82519819	82519819	+	Frame_Shift_Del	DEL	A	A	-													agtgcttgagtttctggtggAaaagagtcaaaagtttgtga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:82519818_82519818GA>G	uc002bgt.1	-	10	1334	c.1165_1165TC>C	c.(1165-1167)ccafs	p.P389fs	EFTUD1_uc002bgu.1_Frame_Shift_Del_p.P338fs	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	389					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GTTTCTGGTGGAAAAGAGTCA	0.458													-	82519819	A	-	82519819	7	5	63	1	0	1	0	1	0	0	0	0	4960	243	9	0	2238	0	EFTUD1	15	82519819	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	883476	82519819	20011573	1366	46099											
AP3B2	8120	broad.mit.edu	37	chr15	83328384	83328384	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attttctcgctgttgacagtCagctgggcagctccagctgg	12	11	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:83328384C>T	uc010uoh.1	-	26	3354	c.3177G>A	c.(3175-3177)CTG>CTA	p.L1059L	AP3B2_uc010uoi.1_Silent_p.L1078L|AP3B2_uc010uoj.1_Silent_p.L1027L|AP3B2_uc010bmp.2_Silent_p.L122L|AP3B2_uc010uog.1_Silent_p.L695L	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	1059					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGTTGACAGTCAGCTGGGCAG	0.557													T	83328384	C	T	83328384	2	4	63	1	0	0	0	0	0	0	0	1	745	813	29	4		4	AP3B2	15	83328384	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	808565	83328384	19203008	1367	46100											
ALPK3	57538	broad.mit.edu	37	chr15	85382261	85382261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgatacggagctggacCgctactgtggcttgccaaaa	13	9	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:85382261C>T	uc002ble.2	+	4	1128	c.961C>T	c.(961-963)CGC>TGC	p.R321C		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	321	Ig-like 1.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAGCTGGACCGCTACTGTGG	0.527													T	85382261	C	T	85382261	3	4	63	1	0	0	0	0	1	0	0	0	546	652	23	1	975	1	ALPK3	15	85382261	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2053877	85382261	17149131	1368	46101											
ALPK3	57538	broad.mit.edu	37	chr15	85405990	85405990	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagggggtggatatgggtgTggccttcggaaggcctccca	18	9	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:85405990T>C	uc002ble.2	+	10	5027	c.4860T>C	c.(4858-4860)TGT>TGC	p.C1620C	ALPK3_uc010upc.1_5'Flank	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1620	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GATATGGGTGTGGCCTTCGGA	0.607													C	85405990	T	C	85405990	2	2	63	1	0	0	0	0	0	0	0	1	546	1702	59	3		3	ALPK3	15	85405990	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	23729	85405990	17125402	1369	46102											
KIF7	374654	broad.mit.edu	37	chr15	90190209	90190209	+	Frame_Shift_Del	DEL	C	C	-													ggccattcaggagccgcgggCccccccagcctggccgcacc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:90190209delC	uc002bof.2	-	7	1717	c.1640delG	c.(1639-1641)GGCfs	p.G547fs	KIF7_uc010upw.1_Frame_Shift_Del_p.G34fs	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	kinesin family member 7	547					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			ovary(2)|lung(1)	3	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GAGCCGCGGGCCCCCCCAGCC	0.692											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	90190209	C	-	90190209	7	5	63	1	0	1	0	1	0	0	0	0	8309	739	26	0	2443	0	KIF7	15	90190209	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	4784219	90190209	12341183	1370	46103											
ZNF774	342132	broad.mit.edu	37	chr15	90904288	90904288	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctacaaatgtggagagtgtGggaagagcttcaatcagagc	13	7	2	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:90904288G>T	uc002bpk.3	+	4	1411	c.1225G>T	c.(1225-1227)GGG>TGG	p.G409W		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	zinc finger protein 774	409	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGGAGAGTGTGGGAAGAGCTT	0.502													T	90904288	G	T	90904288	3	4	63	1	0	0	0	0	1	0	0	0	18144	1348	47	5	1235	5	ZNF774	15	90904288	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	714079	90904288	11627104	1371	46104											
CRTC3	64784	broad.mit.edu	37	chr15	91181743	91181743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaagcccaggtgtcgccGccacccccttaccctgcacc	8	21	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:91181743G>A	uc002bpp.2	+	12	1438	c.1332G>A	c.(1330-1332)CCG>CCA	p.P444P	CRTC3_uc002bpo.2_Silent_p.P444P	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	transducer of regulated CREB protein 3 isoform	444	Poly-Pro.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	salivary_gland(26)|ovary(1)	27	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AGGTGTCGCCGCCACCCCCTT	0.632			T	MAML2	salivary gland mucoepidermoid								A	91181743	G	A	91181743	2	1	63	1	0	0	0	0	0	0	0	1	3901	1074	38	1		1	CRTC3	15	91181743	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	277455	91181743	11349649	1372	46105											
CRTC3	64784	broad.mit.edu	37	chr15	91185178	91185178	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcagaagactccagcaccAgcctgttcaaagacctcaac	6	14	3	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:91185178A>G	uc002bpp.2	+	15	1772	c.1666A>G	c.(1666-1668)AGC>GGC	p.S556G	CRTC3_uc002bpo.2_Missense_Mutation_p.S555G	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	transducer of regulated CREB protein 3 isoform	556					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	salivary_gland(26)|ovary(1)	27	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CTCCAGCACCAGCCTGTTCAA	0.567			T	MAML2	salivary gland mucoepidermoid								G	91185178	A	G	91185178	3	3	63	1	0	0	0	0	1	0	0	0	3901	188	7	3	1724	3	CRTC3	15	91185178	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	3435	91185178	11346214	1373	46106											
CHD2	1106	broad.mit.edu	37	chr15	93521592	93521592	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcacaagcccgagcgcaTagaattggtcaaaagaagca	11	10	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:93521592T>C	uc002bsp.2	+	21	3281	c.2706T>C	c.(2704-2706)CAT>CAC	p.H902H	CHD2_uc002bso.1_Silent_p.H902H|CHD2_uc010bog.1_Missense_Mutation_p.I176T|CHD2_uc010boh.1_Silent_p.H96H	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	902	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCCGAGCGCATAGAATTGGTC	0.517													C	93521592	T	C	93521592	2	2	63	1	0	0	0	0	0	0	0	1	3325	1403	49	3		3	CHD2	15	93521592	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	2336414	93521592	9009800	1374	46107											
SPATA8	145946	broad.mit.edu	37	chr15	97328286	97328287	+	Frame_Shift_Ins	INS	-	-	C													cgaagggtgccatctgcttcINScccactgattcagaagataa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:97328285_97328286T>TC	uc002bue.3	+	2	463_464	c.256_257T>TC	c.(256-258)tccfs	p.S86fs	DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.	86								p.S86T(2)		large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GCCATCTGCTTCCCCACTGATT	0.455													C	97328287	-	C	97328286	7	5	63	1	0	1	1	0	0	0	0	0	15014	855	30	0	267	0	SPATA8	15	97328286	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	3806694	97328286	5203106	1375	46108											
ARRDC4	91947	broad.mit.edu	37	chr15	98512505	98512505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgcgaggaaaccacatcGcttctgggagcacagacaca	11	11	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:98512505G>A	uc010bom.2	+	5	937	c.778G>A	c.(778-780)GCT>ACT	p.A260T	ARRDC4_uc002bui.3_Missense_Mutation_p.A173T	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	260					signal transduction						0	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			AAACCACATCGCTTCTGGGAG	0.458													A	98512505	G	A	98512505	3	1	63	1	0	0	0	0	1	0	0	0	985	1087	38	1	796	1	ARRDC4	15	98512505	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1184219	98512505	4018887	1376	46109											
LRRK1	79705	broad.mit.edu	37	chr15	101606847	101606847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggttttggttgcttaggcGcggtggagatgttatcgtca	16	5	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:101606847G>A	uc002bwr.2	+	33	6090	c.5771G>A	c.(5770-5772)CGC>CAC	p.R1924H	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1924					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTGCTTAGGCGCGGTGGAGAT	0.602													A	101606847	G	A	101606847	3	1	63	1	0	0	0	0	1	0	0	0	9032	1087	38	1	5897	1	LRRK1	15	101606847	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3094342	101606847	924545	1377	46110											
PCSK6	5046	broad.mit.edu	37	chr15	101938657	101938657	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagccagtcggccgggcccGtccaccgtcttgccgtcgtc	12	17	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:101938657G>A	uc002bwy.2	-	8	1262	c.948C>T	c.(946-948)GAC>GAT	p.D316D	PCSK6_uc010bpd.2_Silent_p.D186D|PCSK6_uc010bpe.2_Silent_p.D316D|PCSK6_uc002bxa.2_Silent_p.D316D|PCSK6_uc002bxb.2_Silent_p.D316D|PCSK6_uc002bxc.1_Silent_p.D316D|PCSK6_uc002bxd.1_Silent_p.D316D|PCSK6_uc002bxe.2_Silent_p.D316D|PCSK6_uc002bxg.1_Silent_p.D316D	NM_002570	NP_002561	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	316	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			pancreas(2)	2	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGCCGGGCCCGTCCACCGTCT	0.582													A	101938657	G	A	101938657	2	1	63	1	0	0	0	0	0	0	0	1	11604	1136	40	1		1	PCSK6	15	101938657	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	331810	101938657	592735	1378	46111											
RGS11	8786	broad.mit.edu	37	chr16	320824	320824	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcctcccagaagctgaggTtttctcctggggggccgggc	15	12	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:320824T>G	uc002cgj.1	-	14	989	c.986A>C	c.(985-987)AAC>ACC	p.N329T	RGS11_uc002cgi.1_Missense_Mutation_p.N308T|RGS11_uc010bqs.1_Missense_Mutation_p.N318T|RGS11_uc002cgk.1_Missense_Mutation_p.N145T	NM_183337	NP_899180	O94810	RGS11_HUMAN	regulator of G-protein signalling 11 isoform 1	329	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			lung(1)|pancreas(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GAAGCTGAGGTTTTCTCCTGG	0.657													G	320824	T	G	320824	3	3	63	1	0	0	0	0	1	0	0	0	13294	1725	60	5	433	5	RGS11	16	320824	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08		320824	90033929	1379	46112											
TMEM8A	58986	broad.mit.edu	37	chr16	424064	424064	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgacccagatggccgcccCggagcccaagaagtcgcagt	14	14	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:424064C>A	uc002cgu.3	-	11	1972	c.1843G>T	c.(1843-1845)GGG>TGG	p.G615W	TMEM8A_uc002cgv.3_Missense_Mutation_p.G422W	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	615	Helical; (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						ATGGCCGCCCCGGAGCCCAAG	0.652											OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	424064	C	A	424064	3	1	63	1	0	0	0	0	1	0	0	0	16211	652	23	5	484	5	TMEM8A	16	424064	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	103240	424064	89930689	1380	46113											
PIGQ	9091	broad.mit.edu	37	chr16	628430	628430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggctgatgggtgctcccGccgggctcaagatgaaccgt	15	11	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:628430G>A	uc002cho.2	+	5	1096	c.994G>A	c.(994-996)GCC>ACC	p.A332T	PIGQ_uc010bqw.2_Missense_Mutation_p.A332T|PIGQ_uc002chn.2_Missense_Mutation_p.A332T|PIGQ_uc010uui.1_Missense_Mutation_p.A346T	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	332	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)	1		Hepatocellular(780;0.00335)				GGGTGCTCCCGCCGGGCTCAA	0.682													A	628430	G	A	628430	3	1	63	1	0	0	0	0	1	0	0	0	11896	1087	38	1	1008	1	PIGQ	16	628430	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	204366	628430	89726323	1381	46114											
SSTR5	6755	broad.mit.edu	37	chr16	1129867	1129867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaggacgctgacgccacGgagccgcgtccagacaggat	14	14	0	2	rs138635434	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:1129867G>A	uc002ckq.2	+	1	1087	c.999G>A	c.(997-999)ACG>ACA	p.T333T	LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	NM_001053	NP_001044	P35346	SSR5_HUMAN	somatostatin receptor 5	333	Cytoplasmic (Potential).				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			lung(1)	1		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CTGACGCCACGGAGCCGCGTC	0.657													A	1129867	G	A	1129867	2	1	63	1	0	0	0	0	0	0	0	1	15200	1103	39	1		1	SSTR5	16	1129867	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	501437	1129867	89224886	1382	46115											
FAHD1	81889	broad.mit.edu	37	chr16	1877706	1877707	+	Frame_Shift_Ins	INS	-	-	G													aacggcgaactcagacaggaINSgggtgagacatcctccatga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:1877706_1877707insG	uc002cnc.1	+	1	482_483	c.476_477insG	c.(475-477)GAGfs	p.E159fs	HAGH_uc002cmz.2_5'Flank|HAGH_uc002cna.2_5'Flank|HAGH_uc010uvp.1_5'Flank|HAGH_uc002cnb.1_5'Flank|HAGH_uc010bry.1_5'Flank|FAHD1_uc002cnd.2_Frame_Shift_Ins_p.E159fs|FAHD1_uc010brz.2_Frame_Shift_Ins_p.E159fs	NM_031208	NP_112485	Q6P587	FAHD1_HUMAN	fumarylacetoacetate hydrolase domain containing	159						mitochondrion	hydrolase activity|metal ion binding|protein binding				0						CTCAGACAGGAGGGTGAGACAT	0.52													G	1877707	-	G	1877706	7	5	63	1	0	1	1	0	0	0	0	0	5372	304	11	0	478	0	FAHD1	16	1877706	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	747839	1877706	88477047	1383	46116	178	2									
FAHD1	81889	broad.mit.edu	37	chr16	1877707	1877708	+	Frame_Shift_Ins	INS	-	-	G													acggcgaactcagacaggagINSggtgagacatcctccatgat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:1877706_1877707A>AG	uc002cnc.1	+	0	482_483	c.476_477A>AG	c.(475-477)gagfs	p.E159fs	HAGH_uc002cmz.3_5'Flank|HAGH_uc002cna.3_5'Flank|HAGH_uc010uvp.2_5'Flank|HAGH_uc010bry.1_5'Flank|FAHD1_uc002cnd.3_Frame_Shift_Ins_p.E159fs|FAHD1_uc010brz.3_Frame_Shift_Ins_p.E159fs	NM_031208	NP_112485	Q6P587	FAHD1_HUMAN	Homo sapiens fumarylacetoacetate hydrolase domain containing 1 (FAHD1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	159						mitochondrion	hydrolase activity|metal ion binding|protein binding			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						CTCAGACAGGAGGGTGAGACAT	0.52													G	1877708	-	G	1877707	7	5	63	1	0	1	1	0	0	0	0	0	5372	991	35	0	479	0	FAHD1	16	1877707	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1	1877707	88477046	1384	46117	178	2									
AMDHD2	51005	broad.mit.edu	37	chr16	2570787	2570787	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggaggatctgtgggtgcGcggaggccgcatcttggacc	18	10	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:2570787G>T	uc002cqq.2	+	2	198	c.101G>T	c.(100-102)CGC>CTC	p.R34L	AMDHD2_uc002cqp.2_Missense_Mutation_p.R34L|AMDHD2_uc010uwc.1_Missense_Mutation_p.R34L|AMDHD2_uc010uwd.1_Intron	NM_015944	NP_057028	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2 isoform 1	34					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			skin(2)|large_intestine(1)|breast(1)	4						CTGTGGGTGCGCGGAGGCCGC	0.577													T	2570787	G	T	2570787	3	4	63	1	0	0	0	0	1	0	0	0	568	1087	38	5	107	5	AMDHD2	16	2570787	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	693080	2570787	87783966	1385	46118											
SRRM2	23524	broad.mit.edu	37	chr16	2818141	2818141	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagttcctcctcgtcgtcgTcgtcctctagctcctcctct	8	17	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:2818141T>C	uc002crk.2	+	11	8161	c.7612T>C	c.(7612-7614)TCG>CCG	p.S2538P	SRRM2_uc002crj.1_Missense_Mutation_p.S2442P|SRRM2_uc002crl.1_Missense_Mutation_p.S2538P|SRRM2_uc010bsu.1_Missense_Mutation_p.S2442P	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2538	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						ctcgtcgtcgtcgtcctctag	0.403													C	2818141	T	C	2818141	3	2	63	1	0	0	0	0	1	0	0	0	15168	1667	58	3	7650	3	SRRM2	16	2818141	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	247354	2818141	87536612	1386	46119											
PRSS21	10942	broad.mit.edu	37	chr16	2868785	2868785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctacacccgttacttcgtatCgaatatctatctgagccctc	5	14	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:2868785C>T	uc002crt.2	+	4	471	c.365C>T	c.(364-366)TCG>TTG	p.S122L	PRSS21_uc002crs.2_Missense_Mutation_p.S120L|PRSS21_uc002crr.2_Missense_Mutation_p.S122L	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN	testisin isoform 1	122	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			ovary(1)|skin(1)	2						TACTTCGTATCGAATATCTAT	0.537													T	2868785	C	T	2868785	3	4	63	1	0	0	0	0	1	0	0	0	12618	893	31	1	379	1	PRSS21	16	2868785	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	50644	2868785	87485968	1387	46120											
PKMYT1	9088	broad.mit.edu	37	chr16	3024375	3024375	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgcagcttggggtctggCtccagcatcatgacaaggac	13	13	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:3024375C>T	uc002csn.2	-	6	1466	c.1023G>A	c.(1021-1023)GAG>GAA	p.E341E	PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Silent_p.E341E|PKMYT1_uc002cso.2_Silent_p.E272E|PKMYT1_uc002csp.2_Silent_p.E332E|PKMYT1_uc002csq.2_Silent_p.E332E|PKMYT1_uc010bsy.1_Silent_p.E332E	NM_004203	NP_004194	Q99640	PMYT1_HUMAN	protein kinase Myt1 isoform 1	341	Protein kinase.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)	1						TGGGGTCTGGCTCCAGCATCA	0.672													T	3024375	C	T	3024375	2	4	63	1	0	0	0	0	0	0	0	1	11978	796	28	2		2	PKMYT1	16	3024375	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	155590	3024375	87330378	1388	46121											
HCFC1R1	54985	broad.mit.edu	37	chr16	3073266	3073266	+	Frame_Shift_Del	DEL	G	G	-													agggctggggagaaggtcatGggggggctgcagtaggggtg					rs147841549	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:3073265_3073265TG>T	uc002csx.1	-	3	383	c.250_250CA>A	c.(250-252)atgfs	p.M84fs	HCFC1R1_uc002csy.1_Frame_Shift_Del_p.M84fs|HCFC1R1_uc002csz.1_Frame_Shift_Del_p.M65fs|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002cta.2_5'Flank	NM_001002018	NP_060355	Q9NWW0	HPIP_HUMAN	Homo sapiens host cell factor C1 regulator 1 (XPO1 dependent) (HCFC1R1), transcript variant 3, mRNA.	84						cytoplasm|nucleus				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						GAGAAGGTCATGGGGGGGCTG	0.617													-	3073266	G	-	3073266	7	5	63	1	0	1	0	1	0	0	0	0	6992	1335	47	0	175	0	HCFC1R1	16	3073266	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	48891	3073266	87281487	1389	46122											
THOC6	79228	broad.mit.edu	37	chr16	3075953	3075954	+	Frame_Shift_Del	DEL	AA	AA	-													ctgctttgagctcagaagccAaagaggaaagtaagaagccg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:3075953_3075954delAA	uc002ctb.2	+	3	480_481	c.184_185delAA	c.(184-186)AAAfs	p.K62fs	HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Frame_Shift_Del_p.K62fs|THOC6_uc002ctc.2_Frame_Shift_Del_p.K38fs|THOC6_uc002cta.2_Frame_Shift_Del_p.K38fs	NM_024339	NP_077315	Q86W42	THOC6_HUMAN	WD repeat domain 58 isoform 1	62					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			ovary(1)|central_nervous_system(1)	2						CTCAGAAGCCAAAGAGGAAAGT	0.569													-	3075954	AA	-	3075953	7	5	63	1	0	1	0	1	0	0	0	0	15866	131	5	0	194	0	THOC6	16	3075953	Frame_Shift_Del	DEL	AA	TCGA-BR-8078-01A-11D-2340-08	2687	3075953	87278800	1390	46123											
MMP25	64386	broad.mit.edu	37	chr16	3108634	3108634	+	Frame_Shift_Del	DEL	C	C	-													tgagcctctgggaaggcgcgCccccctcccctgacgatgtc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:3108634delC	uc002cth.2	+	9	1618	c.1381delC	c.(1381-1383)CCCfs	p.P461fs	uc002ctj.1_Intron	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	matrix metalloproteinase 25 preproprotein	461	Hemopexin-like 3.				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0						GGAAGGCGCGCCCCCCTCCCC	0.726													-	3108634	C	-	3108634	7	5	63	1	0	1	0	1	0	0	0	0	9662	739	26	0	1415	0	MMP25	16	3108634	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	32681	3108634	87246119	1391	46124											
OR1F1	4992	broad.mit.edu	37	chr16	3254534	3254534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaccatctccttctgtggCtgtctcacacagatgtattt	7	12	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:3254534C>T	uc010uwu.1	+	1	288	c.288C>T	c.(286-288)GGC>GGT	p.G96G		NM_012360	NP_036492	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CCTTCTGTGGCTGTCTCACAC	0.507													T	3254534	C	T	3254534	2	4	63	1	0	0	0	0	0	0	0	1	10956	784	28	2		2	OR1F1	16	3254534	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	145900	3254534	87100219	1392	46125											
OR1F1	4992	broad.mit.edu	37	chr16	3254715	3254717	+	In_Frame_Del	DEL	CTT	CTT	-													tggttgccaacctgaatgtcCttctgcacaccctgctgatg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:3254714_3254716CCTT>C	uc010uwu.2	+	0	468_470	c.468_470CCTT>C	c.(466-471)gtcctt>gtCt	p.L158del		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						ACCTGAATGTCCTTCTGCACACC	0.527													-	3254717	CTT	-	3254715	7	5	63	1	0	1	0	1	0	0	0	0	10956	681	24	0	471	0	OR1F1	16	3254715	In_Frame_Del	DEL	CTT	TCGA-BR-8078-01A-11D-2340-08	181	3254715	87100038	1393	46126											
FAM86A	196483	broad.mit.edu	37	chr16	5141836	5141836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtggactccttggccaTcagggtctccgccagcgctt	13	14	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:5141836T>C	uc002cyo.2	-	4	350	c.301A>G	c.(301-303)ATG>GTG	p.M101V	FAM86A_uc002cyp.2_Intron	NM_201400	NP_958802	Q96G04	FA86A_HUMAN	hypothetical protein LOC196483 isoform 1	101											0						TCCTTGGCCATCAGGGTCTCC	0.562													C	5141836	T	C	5141836	3	2	63	1	0	0	0	0	1	0	0	0	5643	1435	50	3	711	3	FAM86A	16	5141836	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1887121	5141836	85212917	1394	46127											
USP7	7874	broad.mit.edu	37	chr16	9000392	9000392	+	Frame_Shift_Del	DEL	G	G	-													ttgcagggtccttaggatctGttttttgcaaaaattcatca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:9000391_9000391TG>T	uc002czl.2	-	12	1519	c.1320_1320CA>A	c.(1318-1320)acafs	p.T440fs	USP7_uc010uyk.1_Frame_Shift_Del_p.T341fs|USP7_uc010uyj.1_Frame_Shift_Del_p.T341fs|USP7_uc002czk.2_Frame_Shift_Del_p.T424fs|USP7_uc010uyl.1_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	440					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CCTTAGGATCTGTTTTTTGCA	0.333													-	9000392	G	-	9000392	7	5	63	1	0	1	0	1	0	0	0	0	17085	1377	48	0	2065	0	USP7	16	9000392	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	3858556	9000392	81354361	1395	46128											
ZC3H7A	29066	broad.mit.edu	37	chr16	11864672	11864674	+	In_Frame_Del	DEL	AAG	AAG	-													actcattgaaaatgaatttaAagaagaacaaaaatcttcta							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:11864672_11864674delAAG	uc002dbk.2	-	9	1271_1273	c.1073_1075delCTT	c.(1072-1077)TCTTTA>TTA	p.S358del	ZC3H7A_uc002dbl.2_In_Frame_Del_p.S358del|ZC3H7A_uc002dbm.1_Intron	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	358						nucleus	nucleic acid binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						AATGAATTTAAAGAAGAACAAAA	0.36													-	11864674	AAG	-	11864672	7	5	63	1	0	1	0	1	0	0	0	0	17569	11	1	0	1896	0	ZC3H7A	16	11864672	In_Frame_Del	DEL	AAG	TCGA-BR-8078-01A-11D-2340-08	2864280	11864672	78490081	1396	46129											
KIAA0430	9665	broad.mit.edu	37	chr16	15704908	15704908	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtctggaatctctgatacGatgtcaatcaactcacaaac	7	10	5	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:15704908G>A	uc002ddr.2	-	19	3868	c.3675C>T	c.(3673-3675)ATC>ATT	p.I1225I	KIAA0430_uc002ddq.2_Silent_p.I1059I|KIAA0430_uc010uzv.1_Silent_p.I1221I|KIAA0430_uc010uzw.1_Silent_p.I1224I	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	1224						peroxisome	nucleotide binding|RNA binding				0						TCTCTGATACGATGTCAATCA	0.403													A	15704908	G	A	15704908	2	1	63	1	0	0	0	0	0	0	0	1	8177	1048	37	1		1	KIAA0430	16	15704908	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3840236	15704908	74649845	1397	46130											
ABCC6	368	broad.mit.edu	37	chr16	16244559	16244559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccacggcagcagtagcctCgtccaggatgaggatctggg	15	11	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:16244559C>T	uc002den.3	-	30	4316	c.4279G>A	c.(4279-4281)GAG>AAG	p.E1427K	ABCC6_uc010bvo.2_RNA|ABCC6_uc002dem.2_Missense_Mutation_p.E179K	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	1427	Cytoplasmic (By similarity).|ABC transporter 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GCAGTAGCCTCGTCCAGGATG	0.617													T	16244559	C	T	16244559	3	4	63	1	0	0	0	0	1	0	0	0	57	893	31	1	240	1	ABCC6	16	16244559	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	539651	16244559	74110194	1398	46131											
XYLT1	64131	broad.mit.edu	37	chr16	17235115	17235115	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctccggttcagcaggaaccaGtccgaaccgccatccacggc	10	17	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:17235115G>C	uc002dfa.2	-	7	1567	c.1482C>G	c.(1480-1482)GAC>GAG	p.D494E		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	494	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						GCAGGAACCAGTCCGAACCGC	0.577													C	17235115	G	C	17235115	3	2	63	1	0	0	0	0	1	0	0	0	17460	1020	36	5	1421	5	XYLT1	16	17235115	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	990556	17235115	73119638	1399	46132											
DNAH3	55567	broad.mit.edu	37	chr16	20990771	20990771	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagaatcaattcaaggtaggAggtgggggtaacatagttgt	14	3	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:20990771A>G	uc010vbe.1	-	50	7957	c.7957T>C	c.(7957-7959)TCC>CCC	p.S2653P	DNAH3_uc010vbd.1_Missense_Mutation_p.S88P	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2653					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TCAAGGTAGGAGGTGGGGGTA	0.463													G	20990771	A	G	20990771	3	3	63	1	0	0	0	0	1	0	0	0	4603	304	11	3	4444	3	DNAH3	16	20990771	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	3755656	20990771	69363982	1400	46133											
HS3ST2	9956	broad.mit.edu	37	chr16	22926453	22926453	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actctccaagaagcccgacaTcccgacctttgagggcctct	8	16	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:22926453T>A	uc002dli.2	+	2	746	c.674T>A	c.(673-675)ATC>AAC	p.I225N	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	225	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		AAGCCCGACATCCCGACCTTT	0.597													A	22926453	T	A	22926453	3	1	63	1	0	0	0	0	1	0	0	0	7364	1435	50	5	680	5	HS3ST2	16	22926453	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1935682	22926453	67428300	1401	46134											
APOB48R	55911	broad.mit.edu	37	chr16	28507606	28507606	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctagaggaggagggggatgAggagagagaggctgaggtga	22	3	0	6			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:28507606A>G	uc002dqb.1	+	3	1227	c.1217A>G	c.(1216-1218)GAG>GGG	p.E406G	uc010vct.1_Intron|APOB48R_uc010byg.1_5'UTR	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	406	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0						GAGGGGGATGAGGAGAGAGAG	0.582													G	28507606	A	G	28507606	3	3	63	1	0	0	0	0	1	0	0	0	786	304	11	3	1227	3	APOB48R	16	28507606	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	5581153	28507606	61847147	1402	46135											
ATXN2L	11273	broad.mit.edu	37	chr16	28847350	28847350	+	Frame_Shift_Del	DEL	G	G	-													tgcacccaccccagagtcatGgggggcccccccaaggcgcg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:28847349_28847349TG>T	uc002dqy.3	+	21	3158	c.2991_2991TG>T	c.(2989-2991)catfs	p.H997fs	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002dra.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drb.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drc.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc010vdb.2_Frame_Shift_Del_p.H1003fs|ATXN2L_uc002dre.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drf.3_Frame_Shift_Del_p.H406fs|ATXN2L_uc002drg.3_Frame_Shift_Del_p.H280fs	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	997						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCAGAGTCATGGGGGGCCCC	0.687													-	28847350	G	-	28847350	7	5	63	1	0	1	0	1	0	0	0	0	1212	1348	47	0	3078	0	ATXN2L	16	28847350	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	339744	28847350	61507403	1403	46136											
SPN	6693	broad.mit.edu	37	chr16	29675887	29675887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcctgctgtggcgccggCggcagaagcggcggactggg	19	12	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:29675887C>T	uc002dtm.2	+	2	974	c.838C>T	c.(838-840)CGG>TGG	p.R280W	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Missense_Mutation_p.R280W|SPN_uc010bzd.2_RNA	NM_001030288	NP_001025459	P16150	LEUK_HUMAN	sialophorin precursor	280	Cytoplasmic (Potential).				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)	2						GTGGCGCCGGCGGCAGAAGCG	0.687													T	29675887	C	T	29675887	3	4	63	1	0	0	0	0	1	0	0	0	15072	759	27	1	840	1	SPN	16	29675887	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	828537	29675887	60678866	1404	46137											
ZNF629	23361	broad.mit.edu	37	chr16	30794413	30794413	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgaggttggagctgacGctgaagctcttgccgcactc	13	10	1	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:30794413G>A	uc002dzs.1	-	3	1444	c.1236C>T	c.(1234-1236)AGC>AGT	p.S412S		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	412	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			TGGAGCTGACGCTGAAGCTCT	0.652													A	30794413	G	A	30794413	2	1	63	1	0	0	0	0	0	0	0	1	18050	1078	38	1		1	ZNF629	16	30794413	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1118526	30794413	59560340	1405	46138											
SETD1A	9739	broad.mit.edu	37	chr16	30976311	30976311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcctacctgccccccgaGcccagccggcccaccgacca	7	24	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:30976311G>A	uc002ead.1	+	7	1934	c.1248G>A	c.(1246-1248)GAG>GAA	p.E416E		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	416	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						TGCCCCCCGAGCCCAGCCGGC	0.687													A	30976311	G	A	30976311	2	1	63	1	0	0	0	0	0	0	0	1	14130	962	34	2		2	SETD1A	16	30976311	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	181898	30976311	59378442	1406	46139											
HSD3B7	80270	broad.mit.edu	37	chr16	30998198	30998198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtgacgtgtgcccttcGtcccacgggcatctacggtg	13	14	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:30998198G>A	uc002eaf.2	+	6	675	c.569G>A	c.(568-570)CGT>CAT	p.R190H	HSD3B7_uc010cac.2_Intron|HSD3B7_uc002eag.2_Intron|HSD3B7_uc002eah.2_Missense_Mutation_p.R190H	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta-	190					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity				0						TGTGCCCTTCGTCCCACGGGC	0.677													A	30998198	G	A	30998198	3	1	63	1	0	0	0	0	1	0	0	0	7392	1145	40	1	587	1	HSD3B7	16	30998198	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	21887	30998198	59356555	1407	46140											
ZNF668	79759	broad.mit.edu	37	chr16	31072541	31072541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggggcaggtgtaggggcGcactgagctgtgagtgcggc	21	7	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:31072541G>A	uc010caf.2	-	3	2065	c.1708C>T	c.(1708-1710)CGC>TGC	p.R570C	ZNF668_uc002eao.2_Missense_Mutation_p.R570C	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4						GTGTAGGGGCGCACTGAGCTG	0.662													A	31072541	G	A	31072541	3	1	63	1	0	0	0	0	1	0	0	0	18072	1087	38	1	155	1	ZNF668	16	31072541	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	74343	31072541	59282212	1408	46141											
ZNF646	9726	broad.mit.edu	37	chr16	31088810	31088810	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttaccgccatgctgggagcCtcatcaaccatcgaaagagc	9	14	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:31088810C>A	uc002eap.2	+	2	1454	c.1165C>A	c.(1165-1167)CTC>ATC	p.L389I		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	389	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						TGCTGGGAGCCTCATCAACCA	0.597													A	31088810	C	A	31088810	3	1	63	1	0	0	0	0	1	0	0	0	18059	681	24	5	1167	5	ZNF646	16	31088810	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	16269	31088810	59265943	1409	46142											
ITGAX	3687	broad.mit.edu	37	chr16	31373508	31373508	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctcaggagaatgtggacaTgagggactcttacctgggtg	15	7	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:31373508T>C	uc002ebu.1	+	11	1266	c.1199T>C	c.(1198-1200)ATG>ACG	p.M400T	ITGAX_uc002ebt.2_Missense_Mutation_p.M400T|ITGAX_uc010vfk.1_Missense_Mutation_p.M50T	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	400	FG-GAP 4.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						AATGTGGACATGAGGGACTCT	0.597													C	31373508	T	C	31373508	3	2	63	1	0	0	0	0	1	0	0	0	7889	1464	51	3	1241	3	ITGAX	16	31373508	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	284698	31373508	58981245	1410	46143											
CBLN1	869	broad.mit.edu	37	chr16	49315156	49315156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgattactcatctcggacGgctcgtggttggtgctcctg	13	11	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:49315156G>A	uc002efq.2	-	1	560	c.221C>T	c.(220-222)CCG>CTG	p.P74L		NM_004352	NP_004343	P23435	CBLN1_HUMAN	cerebellin 1 precursor	74	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).				nervous system development|synaptic transmission	cell junction|extracellular region|synapse					0		all_cancers(37;0.0766)|all_lung(18;0.24)				CATCTCGGACGGCTCGTGGTT	0.612													A	49315156	G	A	49315156	3	1	63	1	0	0	0	0	1	0	0	0	2704	1116	39	1	372	1	CBLN1	16	49315156	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	17941648	49315156	41039597	1411	46144											
ADCY7	113	broad.mit.edu	37	chr16	50338374	50338374	+	Frame_Shift_Del	DEL	G	G	-													gacccggtacctcgagtcctGgggggcggcacggccctttg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:50338373_50338373TG>T	uc002egd.1	+	9	1739	c.1471_1471TG>T	c.(1471-1473)tggfs	p.W491fs	ADCY7_uc002egb.1_Frame_Shift_Del_p.W491fs|ADCY7_uc002egc.2_Frame_Shift_Del_p.W491fs	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	491					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CCTCGAGTCCTGGGGGGCGGC	0.697													-	50338374	G	-	50338374	7	5	63	1	0	1	0	1	0	0	0	0	299	1357	47	0	1510	0	ADCY7	16	50338374	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	1023218	50338374	40016379	1412	46145											
BRD7	29117	broad.mit.edu	37	chr16	50357600	50357600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttggcacgtggccaaaaaCtcatggatgctgcaagagac	11	10	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:50357600C>T	uc002egf.1	-	13	1408	c.1341G>A	c.(1339-1341)GAG>GAA	p.E447E	BRD7_uc002ege.1_Silent_p.E447E	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	bromodomain containing 7	447					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding				0		all_cancers(37;0.0127)				TGGCCAAAAACTCATGGATGC	0.458													T	50357600	C	T	50357600	2	4	63	1	0	0	0	0	0	0	0	1	1505	564	20	4		4	BRD7	16	50357600	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	19226	50357600	39997153	1413	46146											
NKD1	85407	broad.mit.edu	37	chr16	50667135	50667136	+	Frame_Shift_Ins	INS	-	-	C													ggcccagaagtcagaactgcINSccccccgcacctccaatccc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:50667134_50667135G>GC	uc002egg.2	+	9	1079_1080	c.855_856G>GC	c.(853-858)ctgcccfs	p.L285fs		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	285					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599													C	50667136	-	C	50667135	7	5	63	1	0	1	1	0	0	0	0	0	10441	739	26	0	894	0	NKD1	16	50667135	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	309535	50667135	39687618	1414	46147											
CYLD	1540	broad.mit.edu	37	chr16	50813911	50813911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggggtaatccgttggatcGgtcagccaccaggactgaat	13	9	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:50813911G>A	uc002egp.1	+	9	1889	c.1474G>A	c.(1474-1476)GGT>AGT	p.G492S	CYLD_uc002ego.2_Missense_Mutation_p.G489S|CYLD_uc010cbs.1_Missense_Mutation_p.G489S|CYLD_uc002egq.1_Missense_Mutation_p.G489S|CYLD_uc002egr.1_Missense_Mutation_p.G489S|CYLD_uc002egs.1_Missense_Mutation_p.G489S	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	492	CAP-Gly 3.|Interaction with TRIP.|Interaction with IKBKG/NEMO.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				CCGTTGGATCGGTCAGCCACC	0.473			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial				A	50813911	G	A	50813911	3	1	63	1	0	0	0	0	1	0	0	0	4143	1116	39	1	1500	1	CYLD	16	50813911	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	146776	50813911	39540842	1415	46148											
SALL1	6299	broad.mit.edu	37	chr16	51175930	51175930	+	Frame_Shift_Del	DEL	T	T	-													ttacgattaaaactaattgaTttttagtacagttcttcttg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:51175930delT	uc010vgs.1	-	2	234	c.203delA	c.(202-204)AATfs	p.N68fs	SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	68					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AACTAATTGATTTTTAGTACA	0.468													-	51175930	T	-	51175930	7	5	63	1	0	1	0	1	0	0	0	0	13810	1493	52	0	3779	0	SALL1	16	51175930	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	362019	51175930	39178823	1416	46149											
RBL2	5934	broad.mit.edu	37	chr16	53493431	53493431	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaggagaatagcccttgtgtGactccagtttctacagctac	9	10	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:53493431G>A	uc002ehi.3	+	9	1366	c.1248G>A	c.(1246-1248)GTG>GTA	p.V416V	RBL2_uc010vgv.1_Silent_p.V342V|RBL2_uc002ehj.2_Silent_p.V126V|RBL2_uc010vgw.1_Silent_p.V200V	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	416					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						GCCCTTGTGTGACTCCAGTTT	0.418													A	53493431	G	A	53493431	2	1	63	1	0	0	0	0	0	0	0	1	13110	1277	45	4		4	RBL2	16	53493431	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2317501	53493431	36861322	1417	46150											
RBL2	5934	broad.mit.edu	37	chr16	53504727	53504727	+	Frame_Shift_Del	DEL	A	A	-													atatttcagatgaattgaggAaaaaaatctggacctgcttt					rs67367291		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:53504726_53504726GA>G	uc002ehi.4	+	16	2713	c.2595_2595GA>G	c.(2593-2595)aggfs	p.R865fs	RBL2_uc002ehj.3_Frame_Shift_Del_p.R575fs|RBL2_uc010vgw.2_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	865	Domain B.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATGAATTGAGGAAAAAAATCT	0.378													-	53504727	A	-	53504727	7	5	63	1	0	1	0	1	0	0	0	0	13110	247	9	0	2662	0	RBL2	16	53504727	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	11296	53504727	36850026	1418	46151											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53683005	53683005	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagtattccactgtgccaaaAtttgggatgtctccttttgt	8	9	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:53683005A>T	uc002ehp.2	-	16	2239	c.2175T>A	c.(2173-2175)AAT>AAA	p.N725K	RPGRIP1L_uc002eho.3_Missense_Mutation_p.N725K|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.N725K|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.N725K|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.N725K	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	725					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				CTGTGCCAAAATTTGGGATGT	0.363													T	53683005	A	T	53683005	3	4	63	1	0	0	0	0	1	0	0	0	13550	98	4	5	1820	5	RPGRIP1L	16	53683005	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	178278	53683005	36671748	1419	46152											
SLC12A3	6559	broad.mit.edu	37	chr16	56912999	56912999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcaggctcctgcgtggtgCgtgatgcctctggggtcctg	15	12	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:56912999C>T	uc010ccm.2	+	10	1224	c.1195C>T	c.(1195-1197)CGT>TGT	p.R399C	SLC12A3_uc002ekd.3_Missense_Mutation_p.R399C|SLC12A3_uc010ccn.2_Missense_Mutation_p.R398C	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	399			R -> C (in GS).		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CTGCGTGGTGCGTGATGCCTC	0.637													T	56912999	C	T	56912999	3	4	63	1	0	0	0	0	1	0	0	0	14384	768	27	1	1233	1	SLC12A3	16	56912999	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3229994	56912999	33441754	1420	46153											
HERPUD1	9709	broad.mit.edu	37	chr16	56969317	56969317	+	Frame_Shift_Del	DEL	A	A	-													ttcgtattacttttagcaggAaaaacggcatgttttgcatc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:56969316_56969316GA>G	uc002eke.1	+	2	638	c.229_229GA>G	c.(229-231)gaafs	p.E77fs	HERPUD1_uc010vhj.1_Frame_Shift_Del_p.E138fs|HERPUD1_uc002ekf.1_Splice_Site_p.E76_splice|HERPUD1_uc002ekg.1_Intron|HERPUD1_uc010cco.1_Frame_Shift_Del_p.E138fs|HERPUD1_uc010ccp.1_Splice_Site_p.E137_splice|HERPUD1_uc002ekh.1_5'Flank	NM_014685	NP_055500	Q15011	HERP1_HUMAN	Homo sapiens homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 (HERPUD1), transcript variant 1, mRNA.	77						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CTTTTAGCAGGAAAAACGGCA	0.408			T	ERG	prostate								-	56969317	A	-	56969317	7	5	63	1	0	1	0	1	0	0	0	0	7063	260	9	0	240	0	HERPUD1	16	56969317	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	56318	56969317	33385436	1421	46154											
NLRC5	84166	broad.mit.edu	37	chr16	57110758	57110758	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaacagtatcggtgatgtCggttgctgccacctttctga	12	9	1	2	rs113401504	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:57110758C>T	uc002ekk.1	+	40	5004	c.4779C>T	c.(4777-4779)GTC>GTT	p.V1593V	NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekq.1_Silent_p.V135V|NLRC5_uc002ekr.1_Silent_p.V480V	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	1593	LRR 19.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				TCGGTGATGTCGGTTGCTGCC	0.532													T	57110758	C	T	57110758	2	4	63	1	0	0	0	0	0	0	0	1	10470	871	31	1		1	NLRC5	16	57110758	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	141441	57110758	33243995	1422	46155											
POLR2C	5432	broad.mit.edu	37	chr16	57503194	57503194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcatctccaacagccccCgggtcattccggtcagtgcg	9	17	4	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:57503194C>T	uc002elt.1	+	5	462	c.376C>T	c.(376-378)CGG>TGG	p.R126W	POLR2C_uc010vhq.1_Missense_Mutation_p.R126W	NM_032940	NP_116558	P19387	RPB3_HUMAN	DNA directed RNA polymerase II polypeptide C	126					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0						CAACAGCCCCCGGGTCATTCC	0.582													T	57503194	C	T	57503194	3	4	63	1	0	0	0	0	1	0	0	0	12216	643	23	1	394	1	POLR2C	16	57503194	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	392436	57503194	32851559	1423	46156											
CNGB1	1258	broad.mit.edu	37	chr16	57996884	57996884	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccagcagtacctgagcCgggtcctccgtgatgctgtg	13	14	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:57996884C>T	uc002emt.2	-	5	440	c.375G>A	c.(373-375)CCG>CCA	p.P125P	CNGB1_uc010cdh.2_Silent_p.P125P|CNGB1_uc002emu.2_Silent_p.P125P	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	125					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						GTACCTGAGCCGGGTCCTCCG	0.647													T	57996884	C	T	57996884	2	4	63	1	0	0	0	0	0	0	0	1	3600	639	23	1		1	CNGB1	16	57996884	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	493690	57996884	32357869	1424	46157											
MMP15	4324	broad.mit.edu	37	chr16	58075662	58075662	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agagcggcccccaaagccggGccccccagtccagccccgag	12	20	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:58075662G>C	uc002ena.2	+	6	2025	c.1052G>C	c.(1051-1053)GGC>GCC	p.G351A		NM_002428	NP_002419	P51511	MMP15_HUMAN	matrix metalloproteinase 15 preproprotein	351	Extracellular (Potential).				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			central_nervous_system(2)|breast(1)	3						CCAAAGCCGGGCCCCCCAGTC	0.726													C	58075662	G	C	58075662	3	2	63	1	0	0	0	0	1	0	0	0	9654	1203	42	5	1074	5	MMP15	16	58075662	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	78778	58075662	32279091	1425	46158											
PRSS54	221191	broad.mit.edu	37	chr16	58314324	58314324	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccctaacatctagactaTctctagagctgtttcctagt	5	12	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:58314324T>C	uc002enf.2	-	7	1387	c.992A>G	c.(991-993)GAT>GGT	p.D331G	PRSS54_uc002eng.2_Missense_Mutation_p.D331G|PRSS54_uc010vie.1_Missense_Mutation_p.D232G|CCDC113_uc002ene.2_3'UTR|CCDC113_uc010vid.1_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	331					proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						ATCTAGACTATCTCTAGAGCT	0.473													C	58314324	T	C	58314324	3	2	63	1	0	0	0	0	1	0	0	0	12633	1435	50	3	199	3	PRSS54	16	58314324	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	238662	58314324	32040429	1426	46159											
CTCF	10664	broad.mit.edu	37	chr16	67645339	67645339	+	Frame_Shift_Del	DEL	A	A	-													cagactatcagccaccagccAaaaaaacaaagaaaaccaaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:67645339delA	uc002etl.2	+	3	894	c.604delA	c.(604-606)AAAfs	p.K202fs	CTCF_uc010cek.2_Intron	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	202					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GCCACCAGCCAAAAAAACAAA	0.478													-	67645339	A	-	67645339	7	5	63	1	0	1	0	1	0	0	0	0	4000	131	5	0	606	0	CTCF	16	67645339	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	9331015	67645339	22709414	1427	46160											
SLC12A4	6560	broad.mit.edu	37	chr16	67980239	67980239	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagccgtagtgcagcgcacGgtgtctggggaggaggagca	19	9	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:67980239G>T	uc002euz.2	-	19	2583	c.2442C>A	c.(2440-2442)ACC>ACA	p.T814T	LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Silent_p.T808T|SLC12A4_uc010vkh.1_Silent_p.T783T|SLC12A4_uc010vki.1_Silent_p.T814T|SLC12A4_uc010vkj.1_Silent_p.T816T|SLC12A4_uc002eva.2_Silent_p.T814T|SLC12A4_uc010cev.1_RNA	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	814					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCAGCGCACGGTGTCTGGGG	0.667													T	67980239	G	T	67980239	2	4	63	1	0	0	0	0	0	0	0	1	14385	1103	39	5		5	SLC12A4	16	67980239	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	334900	67980239	22374514	1428	46161											
SMPD3	55512	broad.mit.edu	37	chr16	68397465	68397465	+	Splice_Site	DEL	G	G	-													tcgtgtccagcagagtacctGggggggacgagggggtgaca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:68397464_68397464TG>T	uc002ewa.3	-	7	2068	c.1646_splice	c.e7-1	p.G549_splice	SMPD3_uc010cfe.3_Splice_Site_p.G549_splice|SMPD3_uc010vlh.2_Splice_Site_p.G541_splice	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	549					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GCAGAGTACCTGGGGGGGACG	0.667													-	68397465	G	-	68397465	8	5	63	1	0	1	0	1	0	0	1	0	14806	1363	47	0		0	SMPD3	16	68397465	Splice_Site	DEL	G	TCGA-BR-8078-01A-11D-2340-08	417226	68397465	21957288	1429	46162											
WWP2	11060	broad.mit.edu	37	chr16	69963383	69963383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatggacgggtgtattacGtgaaccataacactcgcacg	10	10	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:69963383G>A	uc002exu.1	+	13	1356	c.1267G>A	c.(1267-1269)GTG>ATG	p.V423M	WWP2_uc002exv.1_Missense_Mutation_p.V423M|WWP2_uc010vlm.1_Missense_Mutation_p.V307M|WWP2_uc010vln.1_Missense_Mutation_p.V41M|WWP2_uc002exw.1_Translation_Start_Site	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	423	WW 3.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			lung(3)|ovary(1)|breast(1)|skin(1)	6						GGTGTATTACGTGAACCATAA	0.572											OREG0023910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	69963383	G	A	69963383	3	1	63	1	0	0	0	0	1	0	0	0	17413	1145	40	1	1313	1	WWP2	16	69963383	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1565918	69963383	20391370	1430	46163											
DHX38	9785	broad.mit.edu	37	chr16	72137034	72137036	+	In_Frame_Del	DEL	AAG	AAG	-													aagccagcagtgaatttgcaAagaagaagtccatcctggag							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:72137033_72137035AAAG>A	uc002fcb.3	+	11	1915_1917	c.1560_1562AAAG>A	c.(1558-1563)gcaaag>gcAg	p.K523del	DHX38_uc010vmp.2_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	523					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GTGAATTTGCAAAGAAGAAGTCC	0.522													-	72137036	AAG	-	72137034	7	5	63	1	0	1	0	1	0	0	0	0	4511	15	1	0	1603	0	DHX38	16	72137034	In_Frame_Del	DEL	AAG	TCGA-BR-8078-01A-11D-2340-08	2173651	72137034	18217719	1431	46164											
ZFHX3	463	broad.mit.edu	37	chr16	72822729	72822729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcagacccatcaagttcGgcttaggagacgttaaagct	12	9	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:72822729G>A	uc002fck.2	-	10	10119	c.9446C>T	c.(9445-9447)CCG>CTG	p.P3149L	ZFHX3_uc002fcl.2_Missense_Mutation_p.P2235L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3149					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				CATCAAGTTCGGCTTAGGAGA	0.547													A	72822729	G	A	72822729	3	1	63	1	0	0	0	0	1	0	0	0	17631	1116	39	1	1669	1	ZFHX3	16	72822729	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	685695	72822729	17532024	1432	46165											
ZFHX3	463	broad.mit.edu	37	chr16	72830903	72830904	+	Frame_Shift_Ins	INS	-	-	CT													tcccccctcggcgctgtcccINStctctctctggctttctttt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:72830902_72830903C>CCT	uc002fck.3	-	8	6351_6352	c.5678_5679G>AGG	c.(5677-5679)aggfs	p.R1893fs	ZFHX3_uc002fcl.3_Frame_Shift_Ins_p.R979fs	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1893					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGCGCTGTCCCTCTCTCTCTG	0.54													CT	72830904	-	CT	72830903	7	5	63	1	0	1	1	0	0	0	0	0	17631	681	24	0	5441	0	ZFHX3	16	72830903	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	8174	72830903	17523850	1433	46166											
CHST6	4166	broad.mit.edu	37	chr16	75512632	75512632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcgaggttgcgctgctcGtcctcagagtacacaggccg	15	12	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:75512632G>A	uc002fef.2	-	3	1275	c.1095C>T	c.(1093-1095)GAC>GAT	p.D365D	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.D365D	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	365	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						TGCGCTGCTCGTCCTCAGAGT	0.652													A	75512632	G	A	75512632	2	1	63	1	0	0	0	0	0	0	0	1	3408	1136	40	1		1	CHST6	16	75512632	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2681729	75512632	14842121	1434	46167											
CDYL2	124359	broad.mit.edu	37	chr16	80667008	80667008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacaacgatgtctcgaaaccGacagttgctttcattctggc	8	12	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:80667008G>A	uc002ffs.2	-	3	847	c.742C>T	c.(742-744)CGG>TGG	p.R248W		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	248						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						TCTCGAAACCGACAGTTGCTT	0.527													A	80667008	G	A	80667008	3	1	63	1	0	0	0	0	1	0	0	0	3186	1057	37	1	798	1	CDYL2	16	80667008	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	5154376	80667008	9687745	1435	46168											
CDYL2	124359	broad.mit.edu	37	chr16	80718567	80718567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctcatccttctcagagcCggcgtccccattttccatcc	5	19	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:80718567C>T	uc002ffs.2	-	2	589	c.484G>A	c.(484-486)GGC>AGC	p.G162S		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	162						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						TTCTCAGAGCCGGCGTCCCCA	0.507													T	80718567	C	T	80718567	3	4	63	1	0	0	0	0	1	0	0	0	3186	652	23	1	1060	1	CDYL2	16	80718567	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	51559	80718567	9636186	1436	46169											
PKD1L2	114780	broad.mit.edu	37	chr16	81167282	81167282	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccctgctgctgtttcttcGtgctcggaacaaggcatagg	11	11	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:81167282G>A	uc002fgh.1	-	35	5743	c.5743C>T	c.(5743-5745)CGA>TGA	p.R1915*	PKD1L2_uc002fgf.1_Translation_Start_Site|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1915	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CTGTTTCTTCGTGCTCGGAAC	0.562													A	81167282	G	A	81167282	4	1	63	1	0	0	0	0	0	1	0	0	11965	1153	40	1	1675	1	PKD1L2	16	81167282	Nonsense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	448715	81167282	9187471	1437	46170											
PLCG2	5336	broad.mit.edu	37	chr16	81929428	81929428	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtggactgctgggacggGcccgatgggaagccggtcat	18	9	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:81929428G>A	uc002fgt.2	+	13	1241	c.1089G>A	c.(1087-1089)GGG>GGA	p.G363G	PLCG2_uc010chg.1_Silent_p.G363G	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	363	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						GCTGGGACGGGCCCGATGGGA	0.597													A	81929428	G	A	81929428	2	1	63	1	0	0	0	0	0	0	0	1	12036	1190	42	2		2	PLCG2	16	81929428	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	762146	81929428	8425325	1438	46171											
KIAA1609	57707	broad.mit.edu	37	chr16	84514303	84514303	+	Frame_Shift_Del	DEL	C	C	-													agcccaaagtaattgtgctgCccccccataccctgcaaagg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:84514303delC	uc002fib.2	-	7	1196	c.1089delG	c.(1087-1089)GGGfs	p.G363fs	KIAA1609_uc010vod.1_Frame_Shift_Del_p.G336fs|KIAA1609_uc002fic.2_RNA	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	hypothetical protein LOC57707	363	TLD.						protein binding			ovary(2)	2						AATTGTGCTGCCCCCCCATAC	0.547													-	84514303	C	-	84514303	7	5	63	1	0	1	0	1	0	0	0	0	8247	726	26	0	289	0	KIAA1609	16	84514303	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	2584875	84514303	5840450	1439	46172											
FAM92B	339145	broad.mit.edu	37	chr16	85135923	85135924	+	Frame_Shift_Ins	INS	-	-	A													ctcaatagttacaaagtcacINSaaaaaaatttctgtggggag							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:85135923_85135924insA	uc010vok.1	-	6	703_704	c.547_548insT	c.(547-549)TGTfs	p.C183fs		NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN	hypothetical protein LOC339145	183										central_nervous_system(1)	1						TACAAAGTCACAAAAAAATTTC	0.505													A	85135924	-	A	85135923	7	5	63	1	0	1	1	0	0	0	0	0	5653	478	17	0	378	0	FAM92B	16	85135923	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	621620	85135923	5218830	1440	46173	179	2									
FAM92B	339145	broad.mit.edu	37	chr16	85135924	85135925	+	Frame_Shift_Ins	INS	-	-	A													tcaatagttacaaagtcacaINSaaaaaatttctgtggggaga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:85135923_85135924C>CA	uc021tma.1	-	6	703_704	c.547_548G>TG	c.(547-549)tgtfs	p.C183fs	FAM92B_uc021tlz.1_Frame_Shift_Ins_p.C181fs	NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN	Homo sapiens family with sequence similarity 92, member B (FAM92B), mRNA.	183								p.F182L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						TACAAAGTCACAAAAAAATTTC	0.505													A	85135925	-	A	85135924	7	5	63	1	0	1	1	0	0	0	0	0	5653	130	5	0	379	0	FAM92B	16	85135924	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1	85135924	5218829	1441	46174	179	2									
ZFPM1	161882	broad.mit.edu	37	chr16	88598420	88598420	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccccacagaagacgtcttCccctgcaaggactgtggcat	9	15	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:88598420C>T	uc002fkv.2	+	7	756	c.723C>T	c.(721-723)TTC>TTT	p.F241F		NM_153813	NP_722520	Q8IX07	FOG1_HUMAN	zinc finger protein, multitype 1	241	C2HC-type 1.				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0478)		AAGACGTCTTCCCCTGCAAGG	0.706													T	88598420	C	T	88598420	2	4	63	1	0	0	0	0	0	0	0	1	17654	854	30	4		4	ZFPM1	16	88598420	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3462496	88598420	1756333	1442	46175											
ZFPM1	161882	broad.mit.edu	37	chr16	88599306	88599306	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaagggtgagatctactcGccaggggccggacacccagc	13	14	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:88599306G>A	uc002fkv.2	+	9	1185	c.1152G>A	c.(1150-1152)TCG>TCA	p.S384S		NM_153813	NP_722520	Q8IX07	FOG1_HUMAN	zinc finger protein, multitype 1	384					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0478)		AGATCTACTCGCCAGGGGCCG	0.642													A	88599306	G	A	88599306	2	1	63	1	0	0	0	0	0	0	0	1	17654	1074	38	1		1	ZFPM1	16	88599306	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	886	88599306	1755447	1443	46176											
ZNF778	197320	broad.mit.edu	37	chr16	89294007	89294007	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtgcgctgtggccttacTagacacgtacgaacacacac	9	13	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:89294007T>C	uc002fmv.2	+	6	1566	c.1227T>C	c.(1225-1227)ACT>ACC	p.T409T	ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Silent_p.T367T|ZNF778_uc010vpg.1_Silent_p.T172T	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	409	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GTGGCCTTACTAGACACGTAC	0.493													C	89294007	T	C	89294007	2	2	63	1	0	0	0	0	0	0	0	1	18148	1509	53	3		3	ZNF778	16	89294007	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	694701	89294007	1060746	1444	46177											
C16orf7	9605	broad.mit.edu	37	chr16	89778933	89778934	+	Splice_Site	INS	-	-	G													cgctgtagagagagggtctgINSgggggggaggagggagtaag					rs143123169	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:89778932_89778933T>TG	uc002fom.1	-	6	669	c.544_splice	c.e6-1	p.T182_splice	C16orf7_uc002fol.1_Splice_Site_p.T112_splice|LOC100128881_uc002fon.1_Intron	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	182					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		AGAGAGGGTCTGGGGGGGGAGG	0.668													G	89778934	-	G	89778933	8	5	63	1	0	1	1	0	0	0	1	0	1828	1363	47	0		0	C16orf7	16	89778933	Splice_Site	INS	-	TCGA-BR-8078-01A-11D-2340-08	484926	89778933	575820	1445	46178											
TUBB3	10381	broad.mit.edu	37	chr16	89985930	89985930	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcggacctgctggtgagCgggagcaacgtgctggagac	17	9	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:89985930C>T	uc002fpf.2	+	1	672	c.264C>T	c.(262-264)AGC>AGT	p.S88S	MC1R_uc002fpe.3_Silent_p.S88S|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	Error:Variant_position_missing_in_Q13509_after_alignment					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TGCTGGTGAGCGGGAGCAACG	0.642													T	89985930	C	T	89985930	2	4	63	1	0	0	0	0	0	0	0	1	16754	767	27	1		1	TUBB3	16	89985930	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	206997	89985930	368823	1446	46179											
RPH3AL	9501	broad.mit.edu	37	chr17	171135	171135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggatggcctccacctccGccgggctgaggtgctgcttc	14	15	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:171135G>A	uc002frd.1	-	2	193	c.149C>T	c.(148-150)GCG>GTG	p.A50V	RPH3AL_uc010vpy.1_Missense_Mutation_p.A50V|RPH3AL_uc002fre.1_Missense_Mutation_p.A50V|RPH3AL_uc002frf.1_Missense_Mutation_p.A50V|RPH3AL_uc010cjl.1_Missense_Mutation_p.A50V	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	50	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CTCCACCTCCGCCGGGCTGAG	0.677													A	171135	G	A	171135	3	1	63	1	0	0	0	0	1	0	0	0	13552	1087	38	1	826	1	RPH3AL	17	171135	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08		171135	81024075	1447	46180											
RNMTL1	55178	broad.mit.edu	37	chr17	695114	695114	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccggcagctgtggtgattggCggggagacctacggcgtgag	19	9	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:695114C>A	uc002frw.2	+	4	1174	c.1068C>A	c.(1066-1068)GGC>GGA	p.G356G		NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	356		S-adenosyl-L-methionine; via carbonyl oxygen (By similarity).			RNA processing		protein binding|RNA binding|RNA methyltransferase activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		TGGTGATTGGCGGGGAGACCT	0.607													A	695114	C	A	695114	2	1	63	1	0	0	0	0	0	0	0	1	13507	755	27	5		5	RNMTL1	17	695114	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	523979	695114	80500096	1448	46181											
MYO1C	4641	broad.mit.edu	37	chr17	1387489	1387489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaggttctcgatgaaggCggcctcgctggtgaagttct	14	11	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:1387489C>T	uc002fsp.2	-	2	404	c.184G>A	c.(184-186)GCC>ACC	p.A62T	MYO1C_uc002fsn.2_Missense_Mutation_p.A43T|MYO1C_uc002fso.2_Missense_Mutation_p.A27T|MYO1C_uc010vqj.1_Missense_Mutation_p.A27T|MYO1C_uc010vqk.1_Missense_Mutation_p.A38T	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	62	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCGATGAAGGCGGCCTCGCTG	0.632													T	1387489	C	T	1387489	3	4	63	1	0	0	0	0	1	0	0	0	10070	768	27	1	3131	1	MYO1C	17	1387489	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	692375	1387489	79807721	1449	46182											
WDR81	124997	broad.mit.edu	37	chr17	1636825	1636825	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccactcctatccaggtgaCatcatccggaaaatcatccc	5	16	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:1636825C>T	uc002fti.2	+	7	1074	c.813C>T	c.(811-813)GAC>GAT	p.D271D	WDR81_uc002fth.2_Silent_p.D447D|WDR81_uc010vqp.1_Silent_p.D295D|WDR81_uc002ftj.2_Silent_p.D1498D|WDR81_uc010vqq.1_Silent_p.D129D	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN	WD repeat domain 81 isoform 4	271										skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ATCCAGGTGACATCATCCGGA	0.612													T	1636825	C	T	1636825	2	4	63	1	0	0	0	0	0	0	0	1	17327	477	17	4		4	WDR81	17	1636825	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	249336	1636825	79558385	1450	46183											
SGSM2	9905	broad.mit.edu	37	chr17	2266394	2266394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccggggtccacctactcGccaggactcccctgcaaagc	9	18	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:2266394G>A	uc002fun.3	+	6	813	c.638G>A	c.(637-639)CGC>CAC	p.R213H	SGSM2_uc002fum.3_Missense_Mutation_p.R213H|SGSM2_uc010vqw.1_Missense_Mutation_p.R213H	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	213						intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CCACCTACTCGCCAGGACTCC	0.637													A	2266394	G	A	2266394	3	1	63	1	0	0	0	0	1	0	0	0	14223	1087	38	1	660	1	SGSM2	17	2266394	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	629569	2266394	78928816	1451	46184											
KIAA0664	23277	broad.mit.edu	37	chr17	2601720	2601720	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggccgccacgtcccccccGaagtccttgtagtggtctcg	11	16	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:2601720G>A	uc002fuy.1	-	10	1403	c.1317C>T	c.(1315-1317)TTC>TTT	p.F439F	KIAA0664_uc002fux.1_Silent_p.F371F	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	439							binding			breast(2)	2						CGTCCCCCCCGAAGTCCTTGT	0.622													A	2601720	G	A	2601720	2	1	63	1	0	0	0	0	0	0	0	1	8189	1049	37	1		1	KIAA0664	17	2601720	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	335326	2601720	78593490	1452	46185											
KIAA0664	23277	broad.mit.edu	37	chr17	2604055	2604055	+	Frame_Shift_Del	DEL	G	G	-													atccatggcatgctccgcctGgggggctgtccagctgtaca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:2604054_2604054TG>T	uc002fuy.1	-	7	1063	c.977_977CA>A	c.(976-978)cagfs	p.Q326fs	KIAA0664_uc002fux.1_Frame_Shift_Del_p.Q258fs	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	326							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						ATGCTCCGCCTGGGGGGCTGT	0.667													-	2604055	G	-	2604055	7	5	63	1	0	1	0	1	0	0	0	0	8189	1357	47	0	3029	0	KIAA0664	17	2604055	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	2335	2604055	78591155	1453	46186											
ZZEF1	23140	broad.mit.edu	37	chr17	3967836	3967836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgacaagggctcttcagCtgtggcaggggacacgtctg	16	9	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:3967836C>T	uc002fxe.2	-	29	4601	c.4537G>A	c.(4537-4539)GCT>ACT	p.A1513T	ZZEF1_uc002fxh.2_5'Flank|ZZEF1_uc002fxi.2_5'UTR|ZZEF1_uc002fxj.1_Missense_Mutation_p.A126T	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1513							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GGCTCTTCAGCTGTGGCAGGG	0.662													T	3967836	C	T	3967836	3	4	63	1	0	0	0	0	1	0	0	0	18252	797	28	2	4456	2	ZZEF1	17	3967836	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1363781	3967836	77227374	1454	46187											
MYBBP1A	10514	broad.mit.edu	37	chr17	4457505	4457505	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccttcttcacctgatgCaggtcatatttttcttgtat	5	11	5	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:4457505C>T	uc002fyb.3	-	3	425	c.363G>A	c.(361-363)CTG>CTA	p.L121L	MYBBP1A_uc002fxz.3_Silent_p.L121L	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	121	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						TCACCTGATGCAGGTCATATT	0.582													T	4457505	C	T	4457505	2	4	63	1	0	0	0	0	0	0	0	1	10008	697	25	2		2	MYBBP1A	17	4457505	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	489669	4457505	76737705	1455	46188											
VMO1	284013	broad.mit.edu	37	chr17	4688833	4688833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcgccgtctgaacagcGgaagcgcacgttgttcgctg	12	13	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:4688833G>A	uc002fyx.2	-	3	515	c.433C>T	c.(433-435)CGC>TGC	p.R145C	VMO1_uc010vsh.1_3'UTR|VMO1_uc010vsi.1_3'UTR|VMO1_uc002fyy.2_3'UTR	NM_182566	NP_872372	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 isoform 1	145					vitelline membrane formation	extracellular region				ovary(1)	1						TCTGAACAGCGGAAGCGCACG	0.657													A	4688833	G	A	4688833	3	1	63	1	0	0	0	0	1	0	0	0	17174	1116	39	1	179	1	VMO1	17	4688833	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	231328	4688833	76506377	1456	46189											
PLD2	5338	broad.mit.edu	37	chr17	4718006	4718006	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attatgctcaagaggaaggcGgtgaggagagtggtcaggcc	17	6	2	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:4718006G>A	uc002fzc.2	+	12	1274	c.1173G>A	c.(1171-1173)GCG>GCA	p.A391A	PLD2_uc010vsj.1_Silent_p.A248A|PLD2_uc002fzd.2_Silent_p.A391A	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	391					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)	AGAGGAAGGCGGTGAGGAGAG	0.572													A	4718006	G	A	4718006	2	1	63	1	0	0	0	0	0	0	0	1	12046	1130	39	1		1	PLD2	17	4718006	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	29173	4718006	76477204	1457	46190											
USP6	9098	broad.mit.edu	37	chr17	5036240	5036240	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atgacacgaacgagcaagtgGatggaaatgctgggagaatg	15	5	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:5036240G>C	uc002gau.1	+	13	2461	c.231G>C	c.(229-231)TGG>TGC	p.W77C	USP6_uc002gav.1_Missense_Mutation_p.W77C|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.2_Missense_Mutation_p.W138C|uc002gay.1_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	77					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						CGAGCAAGTGGATGGAAATGC	0.532			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								C	5036240	G	C	5036240	3	2	63	1	0	0	0	0	1	0	0	0	17083	1183	41	5	245	5	USP6	17	5036240	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	318234	5036240	76158970	1458	46191											
ZNF594	84622	broad.mit.edu	37	chr17	5087271	5087271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctatgggagctttctcctGcagaaagtattttttctcct	7	9	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:5087271G>A	uc010cla.1	-	2	437	c.281C>T	c.(280-282)GCA>GTA	p.A94V		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						GCTTTCTCCTGCAGAAAGTAT	0.393													A	5087271	G	A	5087271	3	1	63	1	0	0	0	0	1	0	0	0	18021	1319	46	2	2146	2	ZNF594	17	5087271	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	51031	5087271	76107939	1459	46192											
PITPNM3	83394	broad.mit.edu	37	chr17	6371625	6371625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcagggtccaggcgggCgctttccttgatgttcacgc	14	12	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:6371625C>T	uc002gdd.3	-	14	1961	c.1810G>A	c.(1810-1812)GCC>ACC	p.A604T	PITPNM3_uc010cln.2_Missense_Mutation_p.A568T|PITPNM3_uc010clm.2_Missense_Mutation_p.A87T|PITPNM3_uc002gdc.3_Missense_Mutation_p.A195T	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	604					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TCCAGGCGGGCGCTTTCCTTG	0.617													T	6371625	C	T	6371625	3	4	63	1	0	0	0	0	1	0	0	0	11952	768	27	1	1142	1	PITPNM3	17	6371625	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1284354	6371625	74823585	1460	46193											
SLC13A5	284111	broad.mit.edu	37	chr17	6596457	6596457	+	Frame_Shift_Del	DEL	G	G	-													ccttccaatccagcaggggaGggggataaaatggagttttc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:6596456_6596456AG>A	uc002gdj.3	-	8	1270	c.1182_1182CT>T	c.(1180-1182)cctfs	p.P394fs	SLC13A5_uc010clq.3_Frame_Shift_Del_p.P351fs|SLC13A5_uc002gdk.3_Frame_Shift_Del_p.P377fs|SLC13A5_uc010vtf.2_Frame_Shift_Del_p.P394fs	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	394						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CCAGCAGGGGAGGGGGATAAA	0.512													-	6596457	G	-	6596457	7	5	63	1	0	1	0	1	0	0	0	0	14395	1000	35	0	541	0	SLC13A5	17	6596457	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	224832	6596457	74598753	1461	46194											
SLC16A11	162515	broad.mit.edu	37	chr17	6945482	6945482	+	Frame_Shift_Del	DEL	C	C	-													cagccgcggccagcaggggaCccccccagctctcttcgccg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:6945482delC	uc002gei.1	-	3	1357	c.1019delG	c.(1018-1020)GGTfs	p.G340fs		NM_153357	NP_699188	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	340	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(1)	1						CAGCAGGGGACCCCCCCAGCT	0.731													-	6945482	C	-	6945482	7	5	63	1	0	1	0	1	0	0	0	0	14404	507	18	0	404	0	SLC16A11	17	6945482	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	349025	6945482	74249728	1462	46195											
PHF23	79142	broad.mit.edu	37	chr17	7139475	7139475	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgccatctcttcttcttcTtcctcttcctcctcttcctc	2	18	6	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:7139475T>C	uc002gfa.2	-	4	998	c.771A>G	c.(769-771)GAA>GAG	p.E257E	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Silent_p.E190E|PHF23_uc010cma.2_Silent_p.E127E	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	257	Poly-Glu.						zinc ion binding				0						cttcttcttcttcctcttcct	0.512													C	7139475	T	C	7139475	2	2	63	1	0	0	0	0	0	0	0	1	11835	1606	56	3		3	PHF23	17	7139475	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	193993	7139475	74055735	1463	46196											
SENP3	26168	broad.mit.edu	37	chr17	7466636	7466636	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgaagaggaggaagaagaGgaggaggaggaggatgaaga	21	0	0	6			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:7466636G>A	uc002ghm.2	+	2	516	c.243G>A	c.(241-243)GAG>GAA	p.E81E	EIF4A1_uc002gho.1_5'Flank|SENP3_uc002ghn.1_5'Flank	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific protease 3	81	Glu-rich.				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			ovary(1)|central_nervous_system(1)	2		Prostate(122;0.157)				aggaagaagaggaggaggagg	0.493													A	7466636	G	A	7466636	2	1	63	1	0	0	0	0	0	0	0	1	14048	991	35	4		4	SENP3	17	7466636	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	327161	7466636	73728574	1464	46197											
ATP1B2	482	broad.mit.edu	37	chr17	7559161	7559161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcgccacagacgatgagcGagacaagttcgccggccgcg	13	14	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:7559161G>A	uc002gif.1	+	7	1404	c.821G>A	c.(820-822)CGA>CAA	p.R274Q		NM_001678	NP_001669	P14415	AT1B2_HUMAN	Na+/K+ -ATPase beta 2 subunit	274	Extracellular (Potential).				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|pancreas(1)	2		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		GACGATGAGCGAGACAAGTTC	0.582													A	7559161	G	A	7559161	3	1	63	1	0	0	0	0	1	0	0	0	1133	1058	37	1	847	1	ATP1B2	17	7559161	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	92525	7559161	73636049	1465	46198											
WRAP53	55135	broad.mit.edu	37	chr17	7606723	7606723	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctctggtggtgtgggggggcGccagactccagcatccctga	16	12	1	2	rs148329158	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:7606723G>C	uc010vuh.1	+	11	1721	c.1566G>C	c.(1564-1566)GCG>GCC	p.A522A	WRAP53_uc010vui.1_Silent_p.A522A|WRAP53_uc002gip.2_Silent_p.A522A|WRAP53_uc002gir.2_Silent_p.A522A|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Silent_p.A489A|EFNB3_uc002gis.2_5'Flank	NM_001143990	NP_001137462	Q9BUR4	WAP53_HUMAN	WD repeat domain 79 isoform 2	522					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding				0						GTGGGGGGGCGCCAGACTCCA	0.582													C	7606723	G	C	7606723	2	2	63	1	0	0	0	0	0	0	0	1	17397	1074	38	5		5	WRAP53	17	7606723	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	47562	7606723	73588487	1466	46199											
DNAH2	146754	broad.mit.edu	37	chr17	7678253	7678253	+	Frame_Shift_Del	DEL	A	A	-													aggctgtgcagccacacctcAaaaaatgctttgacaacatc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:7678252_7678252CA>C	uc002giu.1	+	27	4691	c.4677_4677CA>C	c.(4675-4677)ctcfs	p.L1559fs		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1559	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCCACACCTCAAAAAATGCT	0.522													-	7678253	A	-	7678253	7	5	63	1	0	1	0	1	0	0	0	0	4602	131	5	0	4788	0	DNAH2	17	7678253	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	71530	7678253	73516957	1467	46200											
DNAH2	146754	broad.mit.edu	37	chr17	7678591	7678592	+	Frame_Shift_Ins	INS	-	-	G													gcagcaaatgggaagctgtgINSgggatgttctcgggcgacgg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:7678590_7678591T>TG	uc002giu.1	+	28	4765_4766	c.4751_4752T>TG	c.(4750-4752)gtgfs	p.V1584fs		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1584	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGGAAGCTGTGGGGATGTTCT	0.584													G	7678592	-	G	7678591	7	5	63	1	0	1	1	0	0	0	0	0	4602	1335	47	0	4866	0	DNAH2	17	7678591	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	338	7678591	73516619	1468	46201											
TRAPPC1	58485	broad.mit.edu	37	chr17	7834015	7834015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgcacagtttggcccagcGggcacaggggattcttcacc	12	12	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:7834015G>A	uc002gjo.1	-	4	463	c.347C>T	c.(346-348)CCG>CTG	p.P116L	KCNAB3_uc002gjm.1_5'Flank|KCNAB3_uc010vul.1_5'Flank|CNTROB_uc002gjp.2_5'Flank|CNTROB_uc002gjq.2_5'Flank	NM_021210	NP_067033	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	116					ER to Golgi vesicle-mediated transport	endoplasmic reticulum					0		Prostate(122;0.173)				TTGGCCCAGCGGGCACAGGGG	0.542													A	7834015	G	A	7834015	3	1	63	1	0	0	0	0	1	0	0	0	16453	1116	39	1	94	1	TRAPPC1	17	7834015	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	155424	7834015	73361195	1469	46202											
ALOXE3	59344	broad.mit.edu	37	chr17	8013440	8013440	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtggcagagcggcagctgGcgcagcgtggccatggcgaa	20	10	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:8013440G>T	uc010cnr.2	-	10	1645	c.1275C>A	c.(1273-1275)CGC>CGA	p.R425R	ALOXE3_uc002gka.2_Silent_p.R581R|ALOXE3_uc010vuo.1_Silent_p.R557R|ALOXE3_uc010vup.1_RNA	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3 isoform 2	425	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			skin(3)|lung(1)|central_nervous_system(1)	5						GCGGCAGCTGGCGCAGCGTGG	0.677											OREG0024154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	8013440	G	T	8013440	2	4	63	1	0	0	0	0	0	0	0	1	542	1190	42	5		5	ALOXE3	17	8013440	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	179425	8013440	73181770	1470	46203											
C17orf68	80169	broad.mit.edu	37	chr17	8141829	8141829	+	Frame_Shift_Del	DEL	G	G	-													taacagctgctctcggggcaGggggttcccatttggtccag							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:8141829delG	uc002gkq.3	-	3	375	c.316delC	c.(316-318)CTGfs	p.L106fs	C17orf68_uc010cnv.2_RNA	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	alpha accessory factor 132	106					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding				0						TCTCGGGGCAGGGGGTTCCCA	0.562													-	8141829	G	-	8141829	7	5	63	1	0	1	0	1	0	0	0	0	1876	991	35	0	3421	0	C17orf68	17	8141829	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	128389	8141829	73053381	1471	46204											
PFAS	5198	broad.mit.edu	37	chr17	8172400	8172400	+	Frame_Shift_Del	DEL	G	G	-													tgaatcccaatgggtccccaGggggcgtggctggcatctgc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:8172400delG	uc002gkr.2	+	28	3976	c.3835delG	c.(3835-3837)GGGfs	p.G1279fs	PFAS_uc010vuv.1_Frame_Shift_Del_p.G855fs|PFAS_uc002gks.2_3'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1279	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGGGTCCCCAGGGGGCGTGGC	0.652													-	8172400	G	-	8172400	7	5	63	1	0	1	0	1	0	0	0	0	11754	1000	35	0	3941	0	PFAS	17	8172400	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	30571	8172400	73022810	1472	46205											
GAS7	8522	broad.mit.edu	37	chr17	10101644	10101644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcgcccgcggcgaagcGcagcccctggccgtgccgct	14	19	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:10101644G>A	uc002gmg.1	-	1	225	c.64C>T	c.(64-66)CGC>TGC	p.R22C		NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	22	SH3.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2						GCGGCGAAGCGCAGCCCCTGG	0.731			T	MLL	AML*								A	10101644	G	A	10101644	3	1	63	1	0	0	0	0	1	0	0	0	6250	1087	38	1	1480	1	GAS7	17	10101644	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1929244	10101644	71093566	1473	46206											
MYH1	4619	broad.mit.edu	37	chr17	10408152	10408152	+	Frame_Shift_Del	DEL	T	T	-													gaacctggagttgcaagtcaTttttttcttgcatcagagta							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:10408152delT	uc002gmo.2	-	22	2760	c.2666delA	c.(2665-2667)AATfs	p.N889fs	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	889	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						TTGCAAGTCATTTTTTTCTTG	0.413													-	10408152	T	-	10408152	7	5	63	1	0	1	0	1	0	0	0	0	10029	1493	52	0	3229	0	MYH1	17	10408152	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	306508	10408152	70787058	1474	46207											
MYH2	4620	broad.mit.edu	37	chr17	10441138	10441138	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagttgatgcacagctgCtccaggctgttgaactaaat	11	8	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:10441138C>A	uc010coi.2	-	15	1559	c.1431G>T	c.(1429-1431)GAG>GAT	p.E477D	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E477D|MYH2_uc010coj.2_Missense_Mutation_p.E477D	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	477	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						TGCACAGCTGCTCCAGGCTGT	0.368													A	10441138	C	A	10441138	3	1	63	1	0	0	0	0	1	0	0	0	10035	796	28	5	4498	5	MYH2	17	10441138	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	32986	10441138	70754072	1475	46208											
ZNF18	7566	broad.mit.edu	37	chr17	11886718	11886718	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagatttgggatgggaaAtgcctgctatagagagaaag	15	4	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:11886718A>G	uc002gng.1	-	8	1363	c.758T>C	c.(757-759)ATT>ACT	p.I253T	ZNF18_uc002gnh.1_Missense_Mutation_p.I253T|ZNF18_uc002gni.1_Missense_Mutation_p.I252T	NM_144680	NP_653281	P17022	ZNF18_HUMAN	zinc finger protein 18	253	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)	1				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		GGGATGGGAAATGCCTGCTAT	0.478													G	11886718	A	G	11886718	3	3	63	1	0	0	0	0	1	0	0	0	17744	101	4	3	899	3	ZNF18	17	11886718	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	1445580	11886718	69308492	1476	46209											
TEKT3	64518	broad.mit.edu	37	chr17	15212064	15212064	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgagccaccttcaggaaGgcagtcttgtccttgatggc	12	11	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:15212064G>A	uc002gon.2	-	8	1360	c.1173C>T	c.(1171-1173)GCC>GCT	p.A391A		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	tektin 3	391					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CCTTCAGGAAGGCAGTCTTGT	0.527													A	15212064	G	A	15212064	2	1	63	1	0	0	0	0	0	0	0	1	15751	987	35	4		4	TEKT3	17	15212064	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3325346	15212064	65983146	1477	46210											
ZNF286A	57335	broad.mit.edu	37	chr17	15620464	15620464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtgtggaaaagccttcAttcattcatcagctctcatt	8	10	5	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:15620464A>G	uc010cot.2	+	6	1822	c.1426A>G	c.(1426-1428)ATT>GTT	p.I476V	ZNF286A_uc002goz.3_Missense_Mutation_p.I364V|ZNF286A_uc010vwa.1_Missense_Mutation_p.I476V|ZNF286A_uc002gpa.2_Missense_Mutation_p.I476V	NM_001130842	NP_001124314	Q9HBT8	Z286A_HUMAN	zinc finger protein 286	476	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		AAAAGCCTTCATTCATTCATC	0.403													G	15620464	A	G	15620464	3	3	63	1	0	0	0	0	1	0	0	0	17820	217	8	3	1444	3	ZNF286A	17	15620464	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	408400	15620464	65574746	1478	46211											
ZNF624	57547	broad.mit.edu	37	chr17	16526577	16526577	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggtgtacagtaaggcaTgaataattaatgaatgcttt	10	4	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:16526577T>C	uc010cpi.1	-	6	1706	c.1623A>G	c.(1621-1623)TCA>TCG	p.S541S		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	541	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CAGTAAGGCATGAATAATTAA	0.373													C	16526577	T	C	16526577	2	2	63	1	0	0	0	0	0	0	0	1	18045	1451	51	3		3	ZNF624	17	16526577	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	906113	16526577	64668633	1479	46212											
NT5M	56953	broad.mit.edu	37	chr17	17250190	17250190	+	Frame_Shift_Del	DEL	C	C	-													accagcacctgcagctgcagCccccccgccgcaggctgcac							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:17250189_17250189GC>G	uc002grf.3	+	4	800	c.615_615GC>G	c.(613-615)cagfs	p.Q205fs	NT5M_uc002grg.3_Frame_Shift_Del_p.Q211fs	NM_020201	NP_064586	Q9NPB1	NT5M_HUMAN	Homo sapiens 5',3'-nucleotidase, mitochondrial (NT5M), nuclear gene encoding mitochondrial protein, mRNA.	205					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding	p.L204P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TGCAGCTGCAGCCCCCCCGCC	0.672													-	17250190	C	-	17250190	7	5	63	1	0	1	0	1	0	0	0	0	10694	739	26	0	634	0	NT5M	17	17250190	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	723613	17250190	63945020	1480	46213											
ATPAF2	91647	broad.mit.edu	37	chr17	17931621	17931621	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcaatggccagggcctcGctggggacggtaaagagctt	15	10	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:17931621G>A	uc002gse.1	-	3	402	c.249C>T	c.(247-249)AGC>AGT	p.S83S	ATPAF2_uc002gsd.1_Intron|ATPAF2_uc002gsf.1_RNA|ATPAF2_uc010cps.1_5'Flank|ATPAF2_uc010vxf.1_Silent_p.S83S	NM_145691	NP_663729	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly	83					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding				0	all_neural(463;0.228)					CCAGGGCCTCGCTGGGGACGG	0.507													A	17931621	G	A	17931621	2	1	63	1	0	0	0	0	0	0	0	1	1201	1078	38	1		1	ATPAF2	17	17931621	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	681431	17931621	63263589	1481	46214											
ALKBH5	54890	broad.mit.edu	37	chr17	18111551	18111551	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggccacggatcctggagatGgacaaggaagagaaccggcg	16	9	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:18111551G>T	uc010cpw.2	+	4	1717	c.1026G>T	c.(1024-1026)ATG>ATT	p.M342I	ALKBH5_uc010cpx.2_RNA	NM_017758	NP_060228	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5	342						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0	all_neural(463;0.228)					TCCTGGAGATGGACAAGGAAG	0.597													T	18111551	G	T	18111551	3	4	63	1	0	0	0	0	1	0	0	0	530	1348	47	5	1040	5	ALKBH5	17	18111551	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	179930	18111551	63083659	1482	46215											
TRIM16L	147166	broad.mit.edu	37	chr17	18635377	18635377	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgacatcagaactcaagtGtctgccattgttcagcgcaa	8	10	4	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:18635377G>A	uc002gug.1	+	9	1080	c.393G>A	c.(391-393)GTG>GTA	p.V131V	TRIM16L_uc010vyf.1_Silent_p.V185V|TRIM16L_uc002guh.1_Silent_p.V131V|TRIM16L_uc010cqg.1_Silent_p.V233V|TRIM16L_uc002gui.1_Silent_p.V131V|TRIM16L_uc010vyg.1_Silent_p.V131V|TRIM16L_uc010vyh.1_Intron	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN	tripartite motif-containing 16-like	131						cytoplasm					0						GAACTCAAGTGTCTGCCATTG	0.493													A	18635377	G	A	18635377	2	1	63	1	0	0	0	0	0	0	0	1	16489	1364	48	4		4	TRIM16L	17	18635377	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	523826	18635377	62559833	1483	46216											
TNFAIP1	7126	broad.mit.edu	37	chr17	26666694	26666694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgggccctgacccgccaCgacaccatgctcaaggccat	11	17	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:26666694C>T	uc002hax.1	+	2	166	c.147C>T	c.(145-147)CAC>CAT	p.H49H	TNFAIP1_uc002hay.2_Silent_p.H49H|TNFAIP1_uc010waf.1_Intron	NM_021137	NP_066960	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1	49	BTB.				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity				0	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TGACCCGCCACGACACCATGC	0.632													T	26666694	C	T	26666694	2	4	63	1	0	0	0	0	0	0	0	1	16269	535	19	1		1	TNFAIP1	17	26666694	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	8031317	26666694	54528516	1484	46217											
FOXN1	8456	broad.mit.edu	37	chr17	26854365	26854365	+	Frame_Shift_Del	DEL	C	C	-													atatgtactgctcctcccagCcccccttccaccaggtgggt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:26854365delC	uc010crm.2	+	4	883	c.685delC	c.(685-687)CCCfs	p.P229fs	FOXN1_uc002hbj.2_Frame_Shift_Del_p.P229fs	NM_003593	NP_003584	O15353	FOXN1_HUMAN	forkhead box N1	229					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	Lung NSC(42;0.00431)					CTCCTCCCAGCCCCCCTTCCA	0.587													-	26854365	C	-	26854365	7	5	63	1	0	1	0	1	0	0	0	0	6019	739	26	0	695	0	FOXN1	17	26854365	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	187671	26854365	54340845	1485	46218											
PROCA1	147011	broad.mit.edu	37	chr17	27030601	27030601	+	Frame_Shift_Del	DEL	G	G	-													tgaggttggggtttgatcctGggggagattttctcttgttt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:27030600_27030600TG>T	uc002hcb.3	-	4	1196	c.993_993CA>A	c.(991-993)ccafs	p.P331fs	PROCA1_uc010crv.2_Frame_Shift_Del_p.P257fs|PROCA1_uc002hca.1_Frame_Shift_Del_p.P329fs	NM_152465	NP_689678	Q8NCQ7	PRCA1_HUMAN	Homo sapiens protein interacting with cyclin A1 (PROCA1), mRNA.	357					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GGTTTGATCCTGGGGGAGATT	0.542													-	27030601	G	-	27030601	7	5	63	1	0	1	0	1	0	0	0	0	12546	1348	47	0	28	0	PROCA1	17	27030601	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	176236	27030601	54164609	1486	46219											
TLCD1	116238	broad.mit.edu	37	chr17	27052964	27052964	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acacaatggagtgagcgaagGagacgagcaggttgtgccag	16	7	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:27052964G>C	uc002hco.2	-	1	267	c.152C>G	c.(151-153)TCC>TGC	p.S51C	TLCD1_uc010waw.1_Intron|NEK8_uc002hcp.2_5'Flank	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN	TLC domain containing 1 isoform 1	51	TLC.|Helical; (Potential).					integral to membrane					0	Lung NSC(42;0.00431)					GTGAGCGAAGGAGACGAGCAG	0.697													C	27052964	G	C	27052964	3	2	63	1	0	0	0	0	1	0	0	0	15934	1174	41	5	607	5	TLCD1	17	27052964	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	22363	27052964	54142246	1487	46220											
TLCD1	116238	broad.mit.edu	37	chr17	27053070	27053070	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcgcccggaaggtcagcgTggcgcccaggagcagcggca	18	13	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:27053070T>C	uc002hco.2	-	1	161	c.46A>G	c.(46-48)ACG>GCG	p.T16A	TLCD1_uc010waw.1_Intron|NEK8_uc002hcp.2_5'Flank	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN	TLC domain containing 1 isoform 1	16						integral to membrane					0	Lung NSC(42;0.00431)					AAGGTCAGCGTGGCGCCCAGG	0.746													C	27053070	T	C	27053070	3	2	63	1	0	0	0	0	1	0	0	0	15934	1696	59	3	713	3	TLCD1	17	27053070	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	106	27053070	54142140	1488	46221											
MYO18A	399687	broad.mit.edu	37	chr17	27446421	27446421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcttcactggctgggcgCcgagccacacgcagcttctc	13	15	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:27446421C>T	uc002hdt.1	-	8	1919	c.1761G>A	c.(1759-1761)CGG>CGA	p.R587R	MYO18A_uc010wbc.1_Silent_p.R129R|MYO18A_uc002hds.2_Silent_p.R129R|MYO18A_uc010csa.1_Silent_p.R587R|MYO18A_uc002hdu.1_Silent_p.R587R|MYO18A_uc010wbd.1_Silent_p.R256R	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	587	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGGCTGGGCGCCGAGCCACAC	0.562													T	27446421	C	T	27446421	2	4	63	1	0	0	0	0	0	0	0	1	10065	726	26	2		2	MYO18A	17	27446421	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	393351	27446421	53748789	1489	46222											
ZNF207	7756	broad.mit.edu	37	chr17	30687715	30687715	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcctgttcaacctcagCaaggttatattcctccaatg	6	13	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:30687715C>T	uc002hhh.3	+	4	554	c.406C>T	c.(406-408)CAA>TAA	p.Q136*	ZNF207_uc002hhj.3_Nonsense_Mutation_p.Q136*|ZNF207_uc002hhi.3_Nonsense_Mutation_p.Q136*|ZNF207_uc010csz.2_Nonsense_Mutation_p.Q139*|ZNF207_uc002hhk.1_Nonsense_Mutation_p.Q136*|ZNF207_uc002hhl.1_RNA	NM_003457	NP_003448	O43670	ZN207_HUMAN	zinc finger protein 207 isoform a	136						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TCAACCTCAGCAAGGTTATAT	0.448													T	30687715	C	T	30687715	4	4	63	1	0	0	0	0	0	1	0	0	17762	711	25	2	420	2	ZNF207	17	30687715	Nonsense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3241294	30687715	50507495	1490	46223											
SLFN5	162394	broad.mit.edu	37	chr17	33592101	33592101	+	Frame_Shift_Del	DEL	A	A	-													tttcttacagtttcagcaagAaaaacatctgccagccagtg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:33592100_33592100GA>G	uc002hjf.4	+	4	1986	c.1869_1869GA>G	c.(1867-1869)aagfs	p.K623fs	SLFN5_uc010wcg.2_Frame_Shift_Del_p.R383fs	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	Homo sapiens schlafen family member 5 (SLFN5), mRNA.	623					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GTTTCAGCAAGAAAAACATCT	0.398													-	33592101	A	-	33592101	7	5	63	1	0	1	0	1	0	0	0	0	14737	247	9	0	1884	0	SLFN5	17	33592101	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	2904386	33592101	47603109	1491	46224											
SLFN13	146857	broad.mit.edu	37	chr17	33768996	33768996	+	Frame_Shift_Del	DEL	C	C	-													cacacaccttcccggtgtagCcccccatgttcactagcttc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:33768996delC	uc002hjk.1	-	3	1838	c.1508delG	c.(1507-1509)GGCfs	p.G503fs	SLFN13_uc010wch.1_Frame_Shift_Del_p.G503fs|SLFN13_uc002hjl.2_Frame_Shift_Del_p.G503fs|SLFN13_uc010ctt.2_Frame_Shift_Del_p.G185fs|SLFN13_uc002hjm.2_Frame_Shift_Del_p.G172fs	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	schlafen family member 13	503						intracellular	ATP binding			ovary(1)|breast(1)	2				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CCCGGTGTAGCCCCCCATGTT	0.582													-	33768996	C	-	33768996	7	5	63	1	0	1	0	1	0	0	0	0	14736	739	26	0	1193	0	SLFN13	17	33768996	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	176895	33768996	47426214	1492	46225											
GAS2L2	246176	broad.mit.edu	37	chr17	34074249	34074249	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttacttcatgctgcactgGtggggccgggggcttcagga	15	11	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:34074249G>T	uc002hjv.1	-	5	899	c.871C>A	c.(871-873)CCA>ACA	p.P291T		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	291					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCTGCACTGGTGGGGCCGGG	0.602													T	34074249	G	T	34074249	3	4	63	1	0	0	0	0	1	0	0	0	6247	1261	44	5	1779	5	GAS2L2	17	34074249	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	305253	34074249	47120961	1493	46226											
GAS2L2	246176	broad.mit.edu	37	chr17	34079505	34079505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttggatgcccatctcctttCgacaccactggatgaagtta	8	12	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:34079505C>T	uc002hjv.1	-	1	393	c.365G>A	c.(364-366)CGA>CAA	p.R122Q		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	122	CH.				cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CATCTCCTTTCGACACCACTG	0.572													T	34079505	C	T	34079505	3	4	63	1	0	0	0	0	1	0	0	0	6247	884	31	1	2301	1	GAS2L2	17	34079505	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	5256	34079505	47115705	1494	46227											
HNF1B	6928	broad.mit.edu	37	chr17	36059174	36059175	+	Frame_Shift_Ins	INS	-	-	G													cgggaggtgtgggaatactgINSggggggttcctgcttgtgtg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:36059173_36059174T>TG	uc002hok.4	-	7	1782_1783	c.1561_1562A>CA	c.(1561-1563)cagfs	p.Q521fs	HNF1B_uc021tvu.1_Frame_Shift_Ins_p.Q226fs|HNF1B_uc010wdi.2_Frame_Shift_Ins_p.Q495fs|HNF1B_uc021tvv.1_Intron|HNF1B_uc021tvw.1_Intron	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	521					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGGAATACTGGGGGGGTTCC	0.515													G	36059175	-	G	36059174	7	5	63	1	0	1	1	0	0	0	0	0	7252	1357	47	0	120	0	HNF1B	17	36059174	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1979669	36059174	45136036	1495	46228											
GPR179	440435	broad.mit.edu	37	chr17	36485586	36485586	+	Frame_Shift_Del	DEL	T	T	-													ttccccgggcctcccctctcTttttttgggagtcacctggg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:36485585_36485585CT>C	uc002hpz.3	-	10	3888	c.3867_3867AG>G	c.(3865-3867)aagfs	p.K1289fs		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1289						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTCCCCTCTCTTTTTTTGGG	0.572													-	36485586	T	-	36485586	7	5	63	1	0	1	0	1	0	0	0	0	6674	1609	56	0	3241	0	GPR179	17	36485586	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	426412	36485586	44709624	1496	46229											
PCGF2	7703	broad.mit.edu	37	chr17	36891730	36891730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcagggctgggagccttgtCgctgactgactcacactcgg	15	12	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:36891730C>T	uc002hqp.1	-	11	1024	c.781G>A	c.(781-783)GAC>AAC	p.D261N	CISD3_uc010wds.1_3'UTR|PCGF2_uc002hqn.1_3'UTR|PCGF2_uc002hqo.1_3'UTR|PCGF2_uc010cvo.1_Missense_Mutation_p.D136N|PCGF2_uc002hqq.1_3'UTR	NM_007144	NP_009075	P35227	PCGF2_HUMAN	ring finger protein 110	261	Pro/Ser-rich.				negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|skin(1)	2	Breast(7;9.07e-22)					GGAGCCTTGTCGCTGACTGAC	0.701											OREG0024367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	36891730	C	T	36891730	3	4	63	1	0	0	0	0	1	0	0	0	11575	884	31	1	257	1	PCGF2	17	36891730	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	406144	36891730	44303480	1497	46230											
STARD3	10948	broad.mit.edu	37	chr17	37809936	37809936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccatctctgatgtccgccGcaccttctgtctcttcgtca	8	16	4	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:37809936G>A	uc002hsd.2	+	2	276	c.152G>A	c.(151-153)CGC>CAC	p.R51H	STARD3_uc010weg.1_Missense_Mutation_p.R51H|STARD3_uc010weh.1_RNA|STARD3_uc002hse.2_Missense_Mutation_p.R51H|STARD3_uc010wei.1_Missense_Mutation_p.R51H|STARD3_uc002hsf.2_5'UTR	NM_006804	NP_006795	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain	51	Cytoplasmic (Potential).|MENTAL.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity				0	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GATGTCCGCCGCACCTTCTGT	0.632											OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	37809936	G	A	37809936	3	1	63	1	0	0	0	0	1	0	0	0	15256	1087	38	1	154	1	STARD3	17	37809936	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	918206	37809936	43385274	1498	46231											
MED24	9862	broad.mit.edu	37	chr17	38175815	38175815	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggctttagcagccacctgGcggcccaggggcaggctgag	16	12	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:38175815G>A	uc002htt.2	-	26	3250	c.2937C>T	c.(2935-2937)CGC>CGT	p.R979R	MED24_uc010weq.1_Silent_p.R101R|MED24_uc002htr.2_Silent_p.R91R|MED24_uc010wer.1_Silent_p.R357R|MED24_uc010wes.1_Silent_p.R839R|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Silent_p.R1004R|MED24_uc002htu.2_Silent_p.R966R|MED24_uc010cwn.2_Silent_p.R966R|MED24_uc010weu.1_Silent_p.R889R	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	979					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)					CAGCCACCTGGCGGCCCAGGG	0.667													A	38175815	G	A	38175815	2	1	63	1	0	0	0	0	0	0	0	1	9442	1190	42	2		2	MED24	17	38175815	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	365879	38175815	43019395	1499	46232											
MED24	9862	broad.mit.edu	37	chr17	38176148	38176148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgtgggggccagcggtgcGagaccccaggatggaggaga	21	8	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:38176148G>A	uc002htt.2	-	25	3056	c.2743C>T	c.(2743-2745)CGC>TGC	p.R915C	MED24_uc010weq.1_Missense_Mutation_p.R37C|MED24_uc002htr.2_Missense_Mutation_p.R27C|MED24_uc010wer.1_Missense_Mutation_p.R293C|MED24_uc010wes.1_Missense_Mutation_p.R775C|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.R940C|MED24_uc002htu.2_Missense_Mutation_p.R902C|MED24_uc010cwn.2_Missense_Mutation_p.R902C|MED24_uc010weu.1_Missense_Mutation_p.R825C	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	915					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)					CCAGCGGTGCGAGACCCCAGG	0.622													A	38176148	G	A	38176148	3	1	63	1	0	0	0	0	1	0	0	0	9442	1058	37	1	234	1	MED24	17	38176148	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	333	38176148	43019062	1500	46233											
KRT24	192666	broad.mit.edu	37	chr17	38859836	38859837	+	Frame_Shift_Ins	INS	-	-	C													gaagccctgggccgagctgcINScccccagaccacatctgctt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:38859835_38859836G>GC	uc002hvd.3	-	0	167_168	c.110_111C>GC	c.(109-111)ggcfs	p.G37fs		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	37	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GGGCCGAGCTGCCCCCCAGACC	0.658													C	38859837	-	C	38859836	7	5	63	1	0	1	1	0	0	0	0	0	8461	739	26	0	1499	0	KRT24	17	38859836	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	683688	38859836	42335374	1501	46234											
KRT27	342574	broad.mit.edu	37	chr17	38936017	38936017	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggcttcgtactcagctcGcatattgttcagcagaaccg	11	11	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:38936017G>A	uc002hvg.2	-	4	822	c.781C>T	c.(781-783)CGA>TGA	p.R261*		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	261	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)				TACTCAGCTCGCATATTGTTC	0.607													A	38936017	G	A	38936017	4	1	63	1	0	0	0	0	0	1	0	0	8464	1095	38	1	618	1	KRT27	17	38936017	Nonsense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	76181	38936017	42259193	1502	46235											
KRT39	390792	broad.mit.edu	37	chr17	39115014	39115014	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttaagctgcagggggatgAggatgtgcaagctggggccg	18	7	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:39115014A>C	uc002hvo.1	-	7	1351	c.1315T>G	c.(1315-1317)TCA>GCA	p.S439A	KRT39_uc010wfm.1_Missense_Mutation_p.S172A	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	439	Tail.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)				CAGGGGGATGAGGATGTGCAA	0.547													C	39115014	A	C	39115014	3	2	63	1	0	0	0	0	1	0	0	0	8476	304	11	5	164	5	KRT39	17	39115014	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	178997	39115014	42080196	1503	46236											
KRT16	3868	broad.mit.edu	37	chr17	39767948	39767948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatctgcaaaatgggctgcGcattctcaatggtggccgca	11	11	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:39767948G>A	uc002hxg.3	-	2	696	c.557C>T	c.(556-558)GCG>GTG	p.A186V	JUP_uc010wfs.1_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	186	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			skin(1)	1		Breast(137;0.000307)				AATGGGCTGCGCATTCTCAAT	0.582													A	39767948	G	A	39767948	3	1	63	1	0	0	0	0	1	0	0	0	8453	1087	38	1	892	1	KRT16	17	39767948	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	652934	39767948	41427262	1504	46237											
NAGLU	4669	broad.mit.edu	37	chr17	40690427	40690427	+	Frame_Shift_Del	DEL	G	G	-													tggtcctgccttcctggcctGggggcgaatgggcaacctgc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:40690426_40690426TG>T	uc002hzv.3	+	2	941	c.601_601TG>T	c.(601-603)tggfs	p.W201fs		NM_000263	NP_000254	P54802	ANAG_HUMAN	Homo sapiens N-acetylglucosaminidase, alpha (NAGLU), mRNA.	201						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CTTCCTGGCCTGGGGGCGAAT	0.572													-	40690427	G	-	40690427	7	5	63	1	0	1	0	1	0	0	0	0	10143	1357	47	0	612	0	NAGLU	17	40690427	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	922479	40690427	40504783	1505	46238											
DHX8	1659	broad.mit.edu	37	chr17	41577385	41577385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttggccaaagaaaggcGggaactcaaacaggcccagc	12	12	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:41577385G>A	uc002idu.1	+	11	1533	c.1460G>A	c.(1459-1461)CGG>CAG	p.R487Q	DHX8_uc010wif.1_Missense_Mutation_p.R396Q|DHX8_uc010wig.1_Missense_Mutation_p.R487Q	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	487						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AAAGAAAGGCGGGAACTCAAA	0.517													A	41577385	G	A	41577385	3	1	63	1	0	0	0	0	1	0	0	0	4515	1116	39	1	1502	1	DHX8	17	41577385	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	886958	41577385	39617825	1506	46239											
GRN	2896	broad.mit.edu	37	chr17	42430031	42430031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctctgaccatccagggCgtctgttgtgctgatcggcg	12	15	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:42430031C>T	uc002igp.1	+	13	1866	c.1647C>T	c.(1645-1647)GGC>GGT	p.G549G	GRN_uc002igr.1_3'UTR	NM_002087	NP_002078	P28799	GRN_HUMAN	granulin precursor	549					signal transduction	extracellular space	cytokine activity|growth factor activity			ovary(2)|central_nervous_system(2)|skin(1)	5		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCATCCAGGGCGTCTGTTGTG	0.687													T	42430031	C	T	42430031	2	4	63	1	0	0	0	0	0	0	0	1	6804	755	27	1		1	GRN	17	42430031	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	852646	42430031	38765179	1507	46240											
GJC1	10052	broad.mit.edu	37	chr17	42882323	42882323	+	Frame_Shift_Del	DEL	G	G	-													tgacagcaatgttatagccaGggggagcagatggtgtattc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:42882322_42882322AG>A	uc002ihj.3	-	1	1375	c.864_864CT>T	c.(862-864)cctfs	p.P288fs	GJC1_uc002ihk.3_Frame_Shift_Del_p.P288fs|GJC1_uc002ihl.3_Frame_Shift_Del_p.P288fs|GJC1_uc021tyf.1_Frame_Shift_Del_p.P288fs	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	288					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		p.P288fs*>109(1)		NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TGTTATAGCCAGGGGGAGCAG	0.463													-	42882323	G	-	42882323	7	5	63	1	0	1	0	1	0	0	0	0	6414	1000	35	0	331	0	GJC1	17	42882323	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	452292	42882323	38312887	1508	46241											
CRHR1	1394	broad.mit.edu	37	chr17	43911993	43911993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccctgtgcccacaggtcCgttctgccatccggaagagg	11	16	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:43911993C>T	uc010dap.2	+	14	1463	c.1198C>T	c.(1198-1200)CGT>TGT	p.R400C	CRHR1_uc010wjx.1_Missense_Mutation_p.R196C|CRHR1_uc002ijp.2_Silent_p.S224S|CRHR1_uc002ijm.2_Missense_Mutation_p.R371C|CRHR1_uc002ijn.2_Missense_Mutation_p.R331C|CRHR1_uc010dar.2_Missense_Mutation_p.R357C|CRHR1_uc010dao.2_Missense_Mutation_p.R270C|CRHR1_uc010daq.2_Missense_Mutation_p.R196C	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	400	Cytoplasmic (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(3)	3	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCCACAGGTCCGTTCTGCCAT	0.672													T	43911993	C	T	43911993	3	4	63	1	0	0	0	0	1	0	0	0	3871	652	23	1	1252	1	CRHR1	17	43911993	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1029670	43911993	37283217	1509	46242											
MAPT	4137	broad.mit.edu	37	chr17	44073996	44073996	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagtccaagatcggctccaCtgagaacctgaagcaccagc	9	14	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:44073996C>A	uc002ijr.3	+	10	2059	c.1739C>A	c.(1738-1740)ACT>AAT	p.T580N	MAPT_uc010dau.2_Missense_Mutation_p.T598N|MAPT_uc002ijs.3_Missense_Mutation_p.T263N|MAPT_uc002ijx.3_Missense_Mutation_p.T234N|MAPT_uc002ijt.3_Missense_Mutation_p.T205N|MAPT_uc002iju.3_Missense_Mutation_p.T205N|MAPT_uc002ijv.3_Missense_Mutation_p.T212N|STH_uc002ijy.2_5'Flank	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	580	Tau/MAP 1.				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)				ATCGGCTCCACTGAGAACCTG	0.662													A	44073996	C	A	44073996	3	1	63	1	0	0	0	0	1	0	0	0	9297	565	20	5	1831	5	MAPT	17	44073996	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	162003	44073996	37121214	1510	46243											
ITGB3	3690	broad.mit.edu	37	chr17	45369787	45369787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggacgaatgcagccccCgggagggtcagcccgtctgc	15	14	2	0	rs150138754		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:45369787C>T	uc002ilj.2	+	10	1563	c.1543C>T	c.(1543-1545)CGG>TGG	p.R515W	ITGB3_uc010wkr.1_RNA	NM_000212	NP_000203	P05106	ITB3_HUMAN	integrin beta chain, beta 3 precursor	515	Extracellular (Potential).|Cysteine-rich tandem repeats.|II.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			central_nervous_system(5)|large_intestine(1)	6					Abciximab(DB00054)|Tirofiban(DB00775)	ATGCAGCCCCCGGGAGGGTCA	0.627													T	45369787	C	T	45369787	3	4	63	1	0	0	0	0	1	0	0	0	7895	643	23	1	1581	1	ITGB3	17	45369787	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1295791	45369787	35825423	1511	46244											
HOXB1	3211	broad.mit.edu	37	chr17	46608130	46608130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagccccccaccgtagcggCcctcgcttgcatagctgtca	9	18	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:46608130C>T	uc002ink.1	-	1	143	c.137G>A	c.(136-138)GGC>GAC	p.G46D		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	46						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						ACCGTAGCGGCCCTCGCTTGC	0.687													T	46608130	C	T	46608130	3	4	63	1	0	0	0	0	1	0	0	0	7299	739	26	2	776	2	HOXB1	17	46608130	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1238343	46608130	34587080	1512	46245											
CALCOCO2	10241	broad.mit.edu	37	chr17	46933463	46933464	+	Frame_Shift_Del	DEL	TT	TT	-													attgttgacaggatgaaaacTttgacctgtcaaaaagactg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:46933463_46933464delTT	uc002iof.2	+	10	1001_1002	c.922_923delTT	c.(922-924)TTTfs	p.F308fs	CALCOCO2_uc010wlp.1_Frame_Shift_Del_p.F329fs|CALCOCO2_uc010wlq.1_Frame_Shift_Del_p.F236fs|CALCOCO2_uc010wlr.1_Frame_Shift_Del_p.F332fs|CALCOCO2_uc010wls.1_Frame_Shift_Del_p.F266fs	NM_005831	NP_005822	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	308	Potential.				response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			ovary(1)	1						GGATGAAAACTTTGACCTGTCA	0.371													-	46933464	TT	-	46933463	7	5	63	1	0	1	0	1	0	0	0	0	2578	1609	56	0	956	0	CALCOCO2	17	46933463	Frame_Shift_Del	DEL	TT	TCGA-BR-8078-01A-11D-2340-08	325333	46933463	34261747	1513	46246											
COL1A1	1277	broad.mit.edu	37	chr17	48275526	48275526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcctggatactcacaggtGcaccaggggggccagggaga	16	11	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:48275526G>A	uc002iqm.2	-	7	710	c.584C>T	c.(583-585)GCA>GTA	p.A195V		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	195	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	ACTCACAGGTGCACCAGGGGG	0.557			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta				OREG0024560	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	48275526	G	A	48275526	3	1	63	1	0	0	0	0	1	0	0	0	3677	1319	46	2	3990	2	COL1A1	17	48275526	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1342063	48275526	32919684	1514	46247											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602													-	48433967	C	-	48433967	7	5	63	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	158441	48433967	32761243	1515	46248											
SPATA20	64847	broad.mit.edu	37	chr17	48632978	48632978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaatcaagcctgctcagtGcccatcactgatccctgcga	9	14	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:48632978G>A	uc002irf.2	+	16	2457	c.2316G>A	c.(2314-2316)GTG>GTA	p.V772V	SPATA20_uc002irc.2_Silent_p.V439V|SPATA20_uc002ire.2_Silent_p.V728V|SPATA20_uc002ird.2_Silent_p.V788V|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	772					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCTGCTCAGTGCCCATCACTG	0.562													A	48632978	G	A	48632978	2	1	63	1	0	0	0	0	0	0	0	1	15005	1306	46	2		2	SPATA20	17	48632978	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	199011	48632978	32562232	1516	46249											
COIL	8161	broad.mit.edu	37	chr17	55028016	55028017	+	Frame_Shift_Ins	INS	-	-	T													agacttgggattcttagcctINStttttttatattcacatttc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:55028015_55028016C>CT	uc002iuu.3	-	1	618_619	c.587_588G>AG	c.(586-588)aagfs	p.K196fs		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	196	Lys-rich (basic).					Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					GATTCTTAGCCTTTTTTTTATA	0.396													T	55028017	-	T	55028016	7	5	63	1	0	1	1	0	0	0	0	0	3665	1609	56	0	1167	0	COIL	17	55028016	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	6395038	55028016	26167194	1517	46250											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	63	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1358368	56386384	24808826	1518	46251											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	63	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	48777	56435161	24760049	1519	46252											
RNF43	54894	broad.mit.edu	37	chr17	56448298	56448299	+	Frame_Shift_Ins	INS	-	-	G													gccagtgacaggcaggggcgINSgggggcccgtcgaggactct					rs2257205	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:56448297_56448298C>CG	uc002iwf.3	-	1	2305_2306	c.349_350G>CG	c.(349-351)cgcfs	p.R117fs	RNF43_uc010wnv.2_Intron|RNF43_uc002iwh.4_Frame_Shift_Ins_p.R117fs|RNF43_uc002iwg.4_Frame_Shift_Ins_p.R117fs|RNF43_uc010dcw.3_5'UTR	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	117			R -> H (in dbSNP:rs2257205).			endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGGCAGGGGCGGGGGGCCCGT	0.604													G	56448299	-	G	56448298	7	5	63	1	0	1	1	0	0	0	0	0	13495	1116	39	0	2034	0	RNF43	17	56448298	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	13137	56448298	24746912	1520	46253											
SEPT4	5414	broad.mit.edu	37	chr17	56604333	56604333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggtgtcctccaggaaacGcttgatctgggggaagcggg	17	9	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:56604333G>A	uc002iwm.1	-	2	195	c.67C>T	c.(67-69)CGT>TGT	p.R23C	SEPT4_uc002iwk.1_5'UTR|SEPT4_uc010wnw.1_5'UTR|SEPT4_uc002iwl.1_5'UTR|SEPT4_uc002iwn.1_Intron|SEPT4_uc002iwo.1_Missense_Mutation_p.R4C|SEPT4_uc002iwp.1_Missense_Mutation_p.R4C|SEPT4_uc010wnx.1_Missense_Mutation_p.R38C|SEPT4_uc010wny.1_Missense_Mutation_p.R15C|SEPT4_uc010dcy.1_Intron	NM_004574	NP_004565	O43236	SEPT4_HUMAN	septin 4 isoform 1	23					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCAGGAAACGCTTGATCTGG	0.413													A	56604333	G	A	56604333	3	1	63	1	0	0	0	0	1	0	0	0	14066	1087	38	1	1498	1	SEPT4	17	56604333	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	156035	56604333	24590877	1521	46254											
TMEM49	81671	broad.mit.edu	37	chr17	57808851	57808851	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaccagagacgtgtagcaaTgaacaaggaacatcataatg	10	7	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:57808851T>C	uc002ixu.3	+	2	317	c.44T>C	c.(43-45)ATG>ACG	p.M15T	TMEM49_uc010wog.1_5'UTR|TMEM49_uc010woh.1_Missense_Mutation_p.M15T|TMEM49_uc010woi.1_5'UTR|TMEM49_uc010woj.1_5'UTR	NM_030938	NP_112200	Q96GC9	VMP1_HUMAN	transmembrane protein 49	15	Cytoplasmic (Potential).				autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane					0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;1.15e-09)|all cancers(12;1.15e-08)			CGTGTAGCAATGAACAAGGAA	0.348													C	57808851	T	C	57808851	3	2	63	1	0	0	0	0	1	0	0	0	16170	1464	51	3	46	3	TMEM49	17	57808851	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1204518	57808851	23386359	1522	46255											
TUBD1	51174	broad.mit.edu	37	chr17	57944024	57944024	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgaccaagttagcaatggAagtgttaaaatgcaggtcct	10	6	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:57944024A>G	uc002ixw.1	-	7	1299	c.1021T>C	c.(1021-1023)TCC>CCC	p.S341P	TUBD1_uc010ddf.1_Intron|TUBD1_uc010ddg.1_Missense_Mutation_p.S306P|TUBD1_uc010ddh.1_Missense_Mutation_p.S167P|TUBD1_uc010wok.1_Missense_Mutation_p.S341P|TUBD1_uc002ixx.1_Missense_Mutation_p.S286P|TUBD1_uc010wol.1_Missense_Mutation_p.S125P|TUBD1_uc010ddi.1_Missense_Mutation_p.S87P	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	delta-tubulin	341					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			TTAGCAATGGAAGTGTTAAAA	0.383													G	57944024	A	G	57944024	3	3	63	1	0	0	0	0	1	0	0	0	16759	246	9	3	352	3	TUBD1	17	57944024	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	135173	57944024	23251186	1523	46256											
APPBP2	10513	broad.mit.edu	37	chr17	58541474	58541474	+	Splice_Site	DEL	A	A	-													gatgcaccatttgtatgcctAaaaaaattatttatagaaga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:58541473_58541473TA>T	uc002iys.1	-	6	961	c.673_splice	c.e6-1	p.A225_splice	APPBP2_uc010ddl.1_Splice_Site_p.A154_splice	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	225					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TTTGTATGCCTAAAAAAATTA	0.323													-	58541474	A	-	58541474	8	5	63	1	0	1	0	1	0	0	1	0	816	377	13	0		0	APPBP2	17	58541474	Splice_Site	DEL	A	TCGA-BR-8078-01A-11D-2340-08	597450	58541474	22653736	1524	46257											
TBX4	9496	broad.mit.edu	37	chr17	59560345	59560345	+	Frame_Shift_Del	DEL	C	C	-													ggaggatcactatttccgttCcccccctccctacgaccagc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:59560345delC	uc002izi.2	+	8	1151	c.1106delC	c.(1105-1107)TCCfs	p.S369fs	TBX4_uc010ddo.2_Frame_Shift_Del_p.S370fs|TBX4_uc010woy.1_Frame_Shift_Del_p.S370fs	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	369					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						TATTTCCGTTCCCCCCCTCCC	0.577													-	59560345	C	-	59560345	7	5	63	1	0	1	0	1	0	0	0	0	15657	855	30	0	1136	0	TBX4	17	59560345	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	1018871	59560345	21634865	1525	46258											
MRC2	9902	broad.mit.edu	37	chr17	60767425	60767425	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtggggttagcagtggTgagtgcccacctgccagggc	18	9	0	1	rs112230969		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:60767425T>C	uc002jad.2	+	25	4144	c.3742_splice	c.e25+2	p.G1248_splice	MRC2_uc002jae.2_Splice_Site_p.G319_splice|MRC2_uc002jaf.2_Splice_Site_p.G114_splice	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2						endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						TTAGCAGTGGTGAGTGCCCAC	0.677													C	60767425	T	C	60767425	5	2	63	1	0	0	0	0	0	0	1	0	9758	1710	59	3	3842	3	MRC2	17	60767425	Splice_Site	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1207080	60767425	20427785	1526	46259											
MARCH10	162333	broad.mit.edu	37	chr17	60813653	60813653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggaaataattatggttttCggcactggcaaatggagtcc	12	6	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:60813653C>T	uc010ddr.2	-	6	1814	c.1576G>A	c.(1576-1578)GAA>AAA	p.E526K	MARCH10_uc002jag.3_Missense_Mutation_p.E526K|MARCH10_uc010dds.2_Missense_Mutation_p.E564K|MARCH10_uc002jah.2_Missense_Mutation_p.E525K|uc002jaj.1_RNA|uc002jak.2_RNA	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN	ring finger protein 190	526							ligase activity|zinc ion binding				0						TTATGGTTTTCGGCACTGGCA	0.458													T	60813653	C	T	60813653	3	4	63	1	0	0	0	0	1	0	0	0	9299	893	31	1	874	1	MARCH10	17	60813653	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	46228	60813653	20381557	1527	46260											
ACE	1636	broad.mit.edu	37	chr17	61570796	61570796	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccactccactattcctaGgatcaagcagtgcaccaccg	6	18	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:61570796G>A	uc002jau.1	+	20	2935	c.2913_splice	c.e20-1	p.R971_splice	ACE_uc002jav.1_Splice_Site_p.R397_splice|ACE_uc010ddv.1_Splice_Site_p.R198_splice|ACE_uc010wpj.1_Splice_Site_p.R397_splice|ACE_uc002jaw.1_Splice_Site|ACE_uc010wpk.1_Splice_Site_p.R217_splice	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1						arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ACTATTCCTAGGATCAAGCAG	0.562													A	61570796	G	A	61570796	5	1	63	1	0	0	0	0	0	0	1	0	136	1014	35	4	3193	4	ACE	17	61570796	Splice_Site	SNP	G	TCGA-BR-8078-01A-11D-2340-08	757143	61570796	19624414	1528	46261											
STRADA	92335	broad.mit.edu	37	chr17	61781804	61781804	+	Frame_Shift_Del	DEL	G	G	-													cgagtcaccgttggagggccGgggggtgctggtggtcaggc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:61781803_61781803CG>C	uc002jbm.3	-	10	1272	c.998_998CG>G	c.(997-999)cggfs	p.R333fs	STRADA_uc002jbn.3_Frame_Shift_Del_p.R275fs|STRADA_uc010wpq.2_Frame_Shift_Del_p.R289fs|STRADA_uc010wpr.2_Frame_Shift_Del_p.R304fs|STRADA_uc002jbo.3_Frame_Shift_Del_p.R296fs|STRADA_uc002jbp.3_Frame_Shift_Del_p.R296fs|STRADA_uc010ddw.3_Frame_Shift_Del_p.R304fs|STRADA_uc002jbr.3_3'UTR	NM_001003787	NP_001003788	Q7RTN6	STRAA_HUMAN	Homo sapiens STE20-related kinase adaptor alpha (STRADA), transcript variant 1, mRNA.	333	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						GTTGGAGGGCCGGGGGGTGCT	0.647													-	61781804	G	-	61781804	7	5	63	1	0	1	0	1	0	0	0	0	15323	1115	39	0	368	0	STRADA	17	61781804	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	211008	61781804	19413406	1529	46262											
SMARCD2	6603	broad.mit.edu	37	chr17	61912828	61912828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagccaccttgtcccctgCtggggttcccccaggggtcc	13	16	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:61912828C>T	uc010deb.1	-	5	984	c.667G>A	c.(667-669)GCA>ACA	p.A223T	SMARCD2_uc010wpt.1_Missense_Mutation_p.A175T|SMARCD2_uc010dea.1_Missense_Mutation_p.A148T|SMARCD2_uc010dec.1_Missense_Mutation_p.A202T	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	SWI/SNF-related matrix-associated	223					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0						TTGTCCCCTGCTGGGGTTCCC	0.577													T	61912828	C	T	61912828	3	4	63	1	0	0	0	0	1	0	0	0	14778	797	28	2	964	2	SMARCD2	17	61912828	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	131024	61912828	19282382	1530	46263											
SCN4A	6329	broad.mit.edu	37	chr17	62038770	62038770	+	Frame_Shift_Del	DEL	T	T	-													tgtaccaccatggtgggcacTtttggtgggcctcttccagt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:62038769_62038769CT>C	uc002jds.1	-	10	1706	c.1629_1629AG>G	c.(1627-1629)aagfs	p.K543fs		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	543					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ATGGTGGGCACTTTTGGTGGG	0.562													-	62038770	T	-	62038770	7	5	63	1	0	1	0	1	0	0	0	0	13920	1609	56	0	3938	0	SCN4A	17	62038770	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	125942	62038770	19156440	1531	46264											
TEX2	55852	broad.mit.edu	37	chr17	62291159	62291159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctagctaagggccccgacGaagacgaccctggggacaca	13	13	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:62291159G>A	uc002jec.2	-	2	592	c.419C>T	c.(418-420)TCG>TTG	p.S140L	TEX2_uc002jed.2_Missense_Mutation_p.S140L|TEX2_uc002jee.2_Missense_Mutation_p.S140L	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	140	Poly-Ser.				signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GGGCCCCGACGAAGACGACCC	0.532													A	62291159	G	A	62291159	3	1	63	1	0	0	0	0	1	0	0	0	15778	1059	37	1	3029	1	TEX2	17	62291159	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	252389	62291159	18904051	1532	46265											
AXIN2	8313	broad.mit.edu	37	chr17	63545650	63545650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactcacacactgctgtccGtcatggacatggaatcatcc	7	13	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:63545650G>A	uc002jfi.2	-	3	1233	c.944C>T	c.(943-945)ACG>ATG	p.T315M	AXIN2_uc010den.1_Missense_Mutation_p.T315M|AXIN2_uc002jfh.2_Missense_Mutation_p.T315M	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	315					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						ACTGCTGTCCGTCATGGACAT	0.547									Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				A	63545650	G	A	63545650	3	1	63	1	0	0	0	0	1	0	0	0	1237	1145	40	1	1623	1	AXIN2	17	63545650	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1254491	63545650	17649560	1533	46266											
CACNG5	27091	broad.mit.edu	37	chr17	64880684	64880684	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catctccagcatcaacgatgAgatgctcaacaggaccaagg	9	12	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:64880684A>C	uc010wqi.1	+	5	713	c.476A>C	c.(475-477)GAG>GCG	p.E159A	CACNG5_uc002jfr.2_Missense_Mutation_p.E159A|CACNG5_uc010wqj.1_Missense_Mutation_p.E159A	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	159					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			ATCAACGATGAGATGCTCAAC	0.562													C	64880684	A	C	64880684	3	2	63	1	0	0	0	0	1	0	0	0	2560	304	11	5	490	5	CACNG5	17	64880684	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	1335034	64880684	16314526	1534	46267											
NOL11	25926	broad.mit.edu	37	chr17	65720242	65720242	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactcttacttggacaagaCgaaaactctgttataaagag	7	8	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:65720242C>T	uc002jgd.1	+	6	600	c.597C>T	c.(595-597)GAC>GAT	p.D199D	NOL11_uc010wql.1_Silent_p.D17D|NOL11_uc010deu.1_Translation_Start_Site	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	199						nucleolus					0	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTGGACAAGACGAAAACTCTG	0.303													T	65720242	C	T	65720242	2	4	63	1	0	0	0	0	0	0	0	1	10521	535	19	1		1	NOL11	17	65720242	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	839558	65720242	15474968	1535	46268											
SDK2	54549	broad.mit.edu	37	chr17	71394282	71394283	+	Frame_Shift_Ins	INS	-	-	G													tctttctagaaggctgactgINSggggggctggtgcccacgat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:71394281_71394282T>TG	uc010dfm.3	-	23	3246_3247	c.3246_3247A>CA	c.(3244-3249)cccagtfs	p.P1082fs	SDK2_uc002jjt.4_Frame_Shift_Ins_p.P241fs|SDK2_uc010dfn.2_Frame_Shift_Ins_p.P761fs	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1082	Fibronectin type-III 5.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GAAGGCTGACTGGGGGGGCTGG	0.619													G	71394283	-	G	71394282	7	5	63	1	0	1	1	0	0	0	0	0	13969	1335	47	0	3360	0	SDK2	17	71394282	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	5674040	71394282	9800928	1536	46269											
CD300C	10871	broad.mit.edu	37	chr17	72540750	72540750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaggaggggctcacccGggaacacggacacctcaacc	12	13	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:72540750G>A	uc002jky.1	-	2	759	c.398C>T	c.(397-399)CCG>CTG	p.P133L		NM_006678	NP_006669	Q08708	CLM6_HUMAN	CD300C antigen precursor	133	Pro-rich.|Extracellular (Potential).				cellular defense response	integral to plasma membrane	transmembrane receptor activity				0						GGGCTCACCCGGGAACACGGA	0.592													A	72540750	G	A	72540750	3	1	63	1	0	0	0	0	1	0	0	0	2997	1116	39	1	288	1	CD300C	17	72540750	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1146468	72540750	8654460	1537	46270											
GGA3	23163	broad.mit.edu	37	chr17	73235069	73235069	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagcatggacaccaccaccaCcagcacgtcaggtcgtcctg	9	17	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:73235069C>G	uc002jni.1	-	15	1885	c.1876G>C	c.(1876-1878)GTG>CTG	p.V626L	GGA3_uc002jnj.1_Missense_Mutation_p.V593L|GGA3_uc010wrw.1_Missense_Mutation_p.V504L|GGA3_uc002jnk.1_Missense_Mutation_p.V554L|GGA3_uc010wrx.1_Missense_Mutation_p.V504L|GGA3_uc010wry.1_Missense_Mutation_p.V554L	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	626	Poly-Val.|GAE.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			ACCACCACCACCAGCACGTCA	0.582											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	73235069	C	G	73235069	3	3	63	1	0	0	0	0	1	0	0	0	6354	507	18	5	395	5	GGA3	17	73235069	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	694319	73235069	7960141	1538	46271											
GGA3	23163	broad.mit.edu	37	chr17	73236985	73236985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggctagaggagcggctcCgtggaggtcctgaggcctgg	18	11	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:73236985C>T	uc002jni.1	-	11	1109	c.1100G>A	c.(1099-1101)CGG>CAG	p.R367Q	GGA3_uc002jnj.1_Missense_Mutation_p.R334Q|GGA3_uc010wrw.1_Missense_Mutation_p.R245Q|GGA3_uc002jnk.1_Missense_Mutation_p.R295Q|GGA3_uc010wrx.1_Missense_Mutation_p.R245Q|GGA3_uc010wry.1_Missense_Mutation_p.R295Q	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	367	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GGAGCGGCTCCGTGGAGGTCC	0.667											OREG0024730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	73236985	C	T	73236985	3	4	63	1	0	0	0	0	1	0	0	0	6354	652	23	1	1187	1	GGA3	17	73236985	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1916	73236985	7958225	1539	46272											
KIAA0195	9772	broad.mit.edu	37	chr17	73495057	73495057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacacacagggacagccacGtccactttggcctggaggac	13	13	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:73495057G>A	uc002jnz.3	+	31	4167	c.3892G>A	c.(3892-3894)GTC>ATC	p.V1298I	KIAA0195_uc010wsa.1_Missense_Mutation_p.V1308I|KIAA0195_uc010wsb.1_Missense_Mutation_p.V938I|KIAA0195_uc002job.3_Missense_Mutation_p.V336I	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	1298					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGACAGCCACGTCCACTTTGG	0.632													A	73495057	G	A	73495057	3	1	63	1	0	0	0	0	1	0	0	0	8160	1145	40	1	4010	1	KIAA0195	17	73495057	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	258072	73495057	7700153	1540	46273											
LLGL2	3993	broad.mit.edu	37	chr17	73564738	73564738	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgggagcggatcattgcCgccggcagccggcagaacgc	16	13	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:73564738C>A	uc002joh.2	+	11	1372	c.1218C>A	c.(1216-1218)GCC>GCA	p.A406A	LLGL2_uc002joi.2_Silent_p.A406A|LLGL2_uc010dgg.1_Silent_p.A406A|LLGL2_uc002joj.2_Silent_p.A395A|LLGL2_uc010wsd.1_Silent_p.A33A	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	406	WD 8.				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGATCATTGCCGCCGGCAGCC	0.637													A	73564738	C	A	73564738	2	1	63	1	0	0	0	0	0	0	0	1	8834	639	23	5		5	LLGL2	17	73564738	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	69681	73564738	7630472	1541	46274											
FBF1	85302	broad.mit.edu	37	chr17	73922166	73922166	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctgtgctccccggtgccCgggcgggccaggagtttggt	16	14	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:73922166C>T	uc002jqc.2	-	11	1045	c.771G>A	c.(769-771)CCG>CCA	p.P257P	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Silent_p.P247P|FBF1_uc002jqd.1_Silent_p.P257P	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	257											0						CCCCGGTGCCCGGGCGGGCCA	0.677													T	73922166	C	T	73922166	2	4	63	1	0	0	0	0	0	0	0	1	5695	639	23	1		1	FBF1	17	73922166	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	357428	73922166	7273044	1542	46275											
EXOC7	23265	broad.mit.edu	37	chr17	74084972	74084972	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgggcagcagacacgatgttCtccccttcaagcatcagccc	9	16	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:74084972C>A	uc002jqs.2	-	10	1328	c.1233G>T	c.(1231-1233)GAG>GAT	p.E411D	EXOC7_uc010dgv.1_Missense_Mutation_p.E307D|EXOC7_uc002jqq.2_Missense_Mutation_p.E360D|EXOC7_uc010wsw.1_Missense_Mutation_p.E383D|EXOC7_uc010wsx.1_Missense_Mutation_p.E352D|EXOC7_uc002jqr.2_Missense_Mutation_p.E329D|EXOC7_uc010wsv.1_Missense_Mutation_p.E319D	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	411					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			ACACGATGTTCTCCCCTTCAA	0.622													A	74084972	C	A	74084972	3	1	63	1	0	0	0	0	1	0	0	0	5310	912	32	5	1018	5	EXOC7	17	74084972	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	162806	74084972	7110238	1543	46276											
FOXJ1	2302	broad.mit.edu	37	chr17	74134113	74134113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgtactgggggtcaatgCgccagaagccccccttgcct	12	16	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:74134113C>T	uc002jqw.2	-	2	677	c.587G>A	c.(586-588)CGC>CAC	p.R196H	FOXJ1_uc002jqx.2_Missense_Mutation_p.R196H|uc002jqy.1_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	forkhead box J1	196	Fork-head.				actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			pancreas(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			GGGGTCAATGCGCCAGAAGCC	0.627													T	74134113	C	T	74134113	3	4	63	1	0	0	0	0	1	0	0	0	6011	768	27	1	682	1	FOXJ1	17	74134113	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	49141	74134113	7061097	1544	46277											
MGAT5B	146664	broad.mit.edu	37	chr17	74902116	74902116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagatcctggtccacatcgGcttcctgacggaggagtccg	12	14	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:74902116G>A	uc002jti.2	+	7	1008	c.905G>A	c.(904-906)GGC>GAC	p.G302D	MGAT5B_uc002jth.2_Missense_Mutation_p.G291D	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	N-acetylglucosaminyltranferase VB isoform 2	291	Lumenal (Potential).					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(2)|skin(1)	3						GTCCACATCGGCTTCCTGACG	0.682													A	74902116	G	A	74902116	3	1	63	1	0	0	0	0	1	0	0	0	9549	1203	42	2	1003	2	MGAT5B	17	74902116	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	768003	74902116	6293094	1545	46278											
MGAT5B	146664	broad.mit.edu	37	chr17	74942514	74942514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatgctggagcggatccaCgcctacatccagcaccaggt	13	13	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:74942514C>T	uc002jti.2	+	14	2035	c.1932C>T	c.(1930-1932)CAC>CAT	p.H644H	MGAT5B_uc002jth.2_Silent_p.H633H|MGAT5B_uc002jtj.2_Silent_p.H40H	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	N-acetylglucosaminyltranferase VB isoform 2	635	Lumenal (Potential).					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(2)|skin(1)	3						AGCGGATCCACGCCTACATCC	0.642													T	74942514	C	T	74942514	2	4	63	1	0	0	0	0	0	0	0	1	9549	535	19	1		1	MGAT5B	17	74942514	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	40398	74942514	6252696	1546	46279											
TMC6	11322	broad.mit.edu	37	chr17	76117721	76117721	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagccacacaagccccagCacagccgcctgccgcagcct	9	20	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:76117721C>T	uc002juj.1	-	10	1425	c.1299G>A	c.(1297-1299)GTG>GTA	p.V433V	TMC6_uc002jui.1_Silent_p.V72V|TMC6_uc010dhf.1_Silent_p.V266V|TMC6_uc002juk.2_Silent_p.V433V|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Silent_p.V433V|TMC6_uc002jum.3_Silent_p.V224V|TMC6_uc002jun.3_Silent_p.V433V|TMC6_uc002juo.2_Silent_p.V206V	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	433	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAAGCCCCAGCACAGCCGCCT	0.721									Epidermodysplasia_Verruciformis_Familial_Clustering_of				T	76117721	C	T	76117721	2	4	63	1	0	0	0	0	0	0	0	1	15986	697	25	2		2	TMC6	17	76117721	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1175207	76117721	5077489	1547	46280											
TMC8	147138	broad.mit.edu	37	chr17	76134254	76134256	+	In_Frame_Del	DEL	CTT	CTT	-													agcgtcttcctcttcctcacCttctacatcaagaaggtgac							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:76134254_76134256delCTT	uc002jup.2	+	12	1900_1902	c.1518_1520delCTT	c.(1516-1521)ACCTTC>ACC	p.F507del	TMC8_uc002juq.2_In_Frame_Del_p.F284del|TMC8_uc010wtr.1_3'UTR|TMC8_uc002jur.1_5'UTR	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	507	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			TCTTCCTCACCTTCTACATCAAG	0.621									Epidermodysplasia_Verruciformis_Familial_Clustering_of				-	76134256	CTT	-	76134254	7	5	63	1	0	1	0	1	0	0	0	0	15988	668	24	0	1560	0	TMC8	17	76134254	In_Frame_Del	DEL	CTT	TCGA-BR-8078-01A-11D-2340-08	16533	76134254	5060956	1548	46281											
BIRC5	332	broad.mit.edu	37	chr17	76210416	76210416	+	Frame_Shift_Del	DEL	C	C	-													gcatgggtgccccgacgttgCcccctgcctggcagcccttt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:76210415_76210415GC>G	uc002jvg.3	+	0	139	c.18_18GC>G	c.(16-18)ttgfs	p.L6fs	BIRC5_uc002jvc.3_Frame_Shift_Del_p.C30fs|BIRC5_uc002jve.1_Frame_Shift_Del_p.C30fs|BIRC5_uc002jvd.1_Frame_Shift_Del_p.L6fs|BIRC5_uc010dhl.1_Frame_Shift_Del_p.C30fs|BIRC5_uc010dhk.1_Non-coding_Transcript|BIRC5_uc002jvf.3_Frame_Shift_Del_p.L6fs|BIRC5_uc002jvh.3_Frame_Shift_Del_p.L6fs|BIRC5_uc002jvi.3_Non-coding_Transcript	NM_001168	NP_001159	O15392	BIRC5_HUMAN	Homo sapiens baculoviral IAP repeat containing 5 (BIRC5), transcript variant 1, mRNA.	6					G2/M transition of mitotic cell cycle|anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	Ran GTPase binding|caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			CCCCGACGTTGCCCCCTGCCT	0.672													-	76210416	C	-	76210416	7	5	63	1	0	1	0	1	0	0	0	0	1437	739	26	0	21	0	BIRC5	17	76210416	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	76162	76210416	4984794	1549	46282											
USP36	57602	broad.mit.edu	37	chr17	76825015	76825015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggagacgggcttgatggCgttgccgctgttggcgaagg	19	7	0	2	rs139783752	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:76825015C>T	uc002jvz.1	-	5	875	c.550G>A	c.(550-552)GCC>ACC	p.A184T	USP36_uc002jwa.1_Missense_Mutation_p.A184T|USP36_uc002jwd.1_Missense_Mutation_p.A184T	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	184					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GGCTTGATGGCGTTGCCGCTG	0.438													T	76825015	C	T	76825015	3	4	63	1	0	0	0	0	1	0	0	0	17064	768	27	1	2885	1	USP36	17	76825015	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	614599	76825015	4370195	1550	46283											
CANT1	124583	broad.mit.edu	37	chr17	76993149	76993149	+	Frame_Shift_Del	DEL	C	C	-													gccttcgatctggtagacgaCccccgtccggtcatccacgg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:76993148_76993148AC>A	uc002jwj.3	-	1	1052	c.557_557GT>T	c.(556-558)gtcfs	p.V186fs	CANT1_uc002jwn.3_Frame_Shift_Del_p.V186fs|CANT1_uc002jwk.3_Frame_Shift_Del_p.V186fs|CANT1_uc002jwl.2_Non-coding_Transcript	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	186					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CTGGTAGACGACCCCCGTCCG	0.582			T	ETV4	prostate								-	76993149	C	-	76993149	7	5	63	1	0	1	0	1	0	0	0	0	2617	507	18	0	661	0	CANT1	17	76993149	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	168134	76993149	4202061	1551	46284											
RNF213	57674	broad.mit.edu	37	chr17	78320825	78320825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgccaagatgaaccgggGcatttttgtgtcacgtggca	12	11	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:78320825G>A	uc002jyh.1	+	4	3132	c.2909G>A	c.(2908-2910)GGC>GAC	p.G970D		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATGAACCGGGGCATTTTTGTG	0.592													A	78320825	G	A	78320825	3	1	63	1	0	0	0	0	1	0	0	0	13477	1203	42	2	9119	2	RNF213	17	78320825	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1327676	78320825	2874385	1552	46285											
RNF213	57674	broad.mit.edu	37	chr17	78346918	78346918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagggcctctccaagcccGgccgcccgcaccagtgggtg	14	17	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:78346918G>A	uc002jyh.1	+	24	7337	c.7114G>A	c.(7114-7116)GGC>AGC	p.G2372S	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.G754S	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTCCAAGCCCGGCCGCCCGCA	0.582													A	78346918	G	A	78346918	3	1	63	1	0	0	0	0	1	0	0	0	13477	1116	39	1	13404	1	RNF213	17	78346918	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	26093	78346918	2848292	1553	46286											
BAHCC1	57597	broad.mit.edu	37	chr17	79409593	79409593	+	Frame_Shift_Del	DEL	C	C	-													cacctggccgacaagggccgCcccttccaggccgccgaggc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:79409592_79409592GC>G	uc002kaf.2	+	3	1031	c.1031_1031GC>G	c.(1030-1032)cgcfs	p.R344fs	BAHCC1_uc002kae.2_5'Flank	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	406							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			GACAAGGGCCGCCCCTTCCAG	0.711													-	79409593	C	-	79409593	7	5	63	1	0	1	0	1	0	0	0	0	1296	726	26	0	1067	0	BAHCC1	17	79409593	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	1062675	79409593	1785617	1554	46287											
RAB40B	10966	broad.mit.edu	37	chr17	80616484	80616484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgacctcaaagaaggtcaCgcccaggcgctcggcgtagg	14	13	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:80616484C>T	uc002kft.2	-	5	574	c.448G>A	c.(448-450)GTG>ATG	p.V150M	RAB40B_uc002kfs.2_RNA	NM_006822	NP_006813	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	150					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)	1	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			AAGAAGGTCACGCCCAGGCGC	0.652													T	80616484	C	T	80616484	3	4	63	1	0	0	0	0	1	0	0	0	12941	536	19	1	396	1	RAB40B	17	80616484	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1206891	80616484	578726	1555	46288											
TBCD	6904	broad.mit.edu	37	chr17	80885144	80885144	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcccagatttactgtgcgCtgctgggctgcatggacgac	12	11	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:80885144C>A	uc002kfz.2	+	29	2684	c.2554C>A	c.(2554-2556)CTG>ATG	p.L852M	TBCD_uc002kfy.1_Missense_Mutation_p.L852M|TBCD_uc002kgb.1_Missense_Mutation_p.L177M|TBCD_uc002kgc.2_Translation_Start_Site|TBCD_uc002kgd.2_5'Flank	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	852					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TTACTGTGCGCTGCTGGGCTG	0.542													A	80885144	C	A	80885144	3	1	63	1	0	0	0	0	1	0	0	0	15630	796	28	5	2668	5	TBCD	17	80885144	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	268660	80885144	310066	1556	46289											
COLEC12	81035	broad.mit.edu	37	chr18	331763	331763	+	Frame_Shift_Del	DEL	T	T	-													ctctctctccctaccatctgTttttttatccattgctgaaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:331763delT	uc002kkm.2	-	8	2183	c.1968delA	c.(1966-1968)AAAfs	p.K656fs		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	656	Extracellular (Potential).|C-type lectin.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CTACCATCTGTTTTTTTATCC	0.423													-	331763	T	-	331763	7	5	63	1	0	1	0	1	0	0	0	0	3712	1722	60	0	272	0	COLEC12	18	331763	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08		331763	77745485	1557	46290											
TMEM200C	645369	broad.mit.edu	37	chr18	5891837	5891837	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attggtcccggtggccttggGccagtagcccaccaccgcca	12	16	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:5891837G>T	uc002kmx.1	-	1	267	c.226C>A	c.(226-228)CCC>ACC	p.P76T		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	transmembrane protein 200C	76						integral to membrane					0						GTGGCCTTGGGCCAGTAGCCC	0.662													T	5891837	G	T	5891837	3	4	63	1	0	0	0	0	1	0	0	0	16122	1203	42	5	1643	5	TMEM200C	18	5891837	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	5560074	5891837	72185411	1558	46291											
LAMA1	284217	broad.mit.edu	37	chr18	7037643	7037643	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtctctgcatgaccgcGgtgttgttgatgctgacctg	13	11	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:7037643G>A	uc002knm.2	-	12	1765	c.1671C>T	c.(1669-1671)ACC>ACT	p.T557T	LAMA1_uc010wzj.1_Silent_p.T33T	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	557	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)	GCATGACCGCGGTGTTGTTGA	0.587													A	7037643	G	A	7037643	2	1	63	1	0	0	0	0	0	0	0	1	8605	1103	39	1		1	LAMA1	18	7037643	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1145806	7037643	71039605	1559	46292											
ANKRD12	23253	broad.mit.edu	37	chr18	9255186	9255187	+	Frame_Shift_Ins	INS	-	-	A													aaattcagattgcacactgaINSaaaaaatggataaagaaggt					rs11374717		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:9255185_9255186G>GA	uc002knv.3	+	8	2184_2185	c.1920_1921G>GA	c.(1918-1923)ctgaaafs	p.L640fs	ANKRD12_uc002knw.3_Frame_Shift_Ins_p.L617fs|ANKRD12_uc002knx.3_Frame_Shift_Ins_p.L617fs|ANKRD12_uc010dkx.1_Frame_Shift_Ins_p.L347fs	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	640						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						attgcacactgaaaaaaatgga	0.282													A	9255187	-	A	9255186	7	5	63	1	0	1	1	0	0	0	0	0	640	247	9	0	1951	0	ANKRD12	18	9255186	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	2217543	9255186	68822062	1560	46293											
RNMT	8731	broad.mit.edu	37	chr18	13731813	13731813	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagattgtggtgatgctgaAggcaattcaaagaaaagaaa	11	3	1	5			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:13731813A>C	uc002ksk.1	+	2	364	c.297A>C	c.(295-297)GAA>GAC	p.E99D	RNMT_uc002ksl.1_Missense_Mutation_p.E99D|RNMT_uc002ksm.1_Missense_Mutation_p.E99D|RNMT_uc010dlk.2_Missense_Mutation_p.E99D|RNMT_uc010xae.1_Intron	NM_003799	NP_003790	O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	99					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding				0						GTGATGCTGAAGGCAATTCAA	0.373													C	13731813	A	C	13731813	3	2	63	1	0	0	0	0	1	0	0	0	13506	69	3	5	299	5	RNMT	18	13731813	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	4476627	13731813	64345435	1561	46294											
ZNF519	162655	broad.mit.edu	37	chr18	14105975	14105975	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgaggattggtaaaatacTttttcacattcattacaatt	5	5	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:14105975T>C	uc002kst.1	-	3	717	c.564A>G	c.(562-564)AAA>AAG	p.K188K	ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	zinc finger protein 519	188	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGTAAAATACTTTTTCACATT	0.274													C	14105975	T	C	14105975	2	2	63	1	0	0	0	0	0	0	0	1	17961	1606	56	3		3	ZNF519	18	14105975	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	374162	14105975	63971273	1562	46295											
CTAGE1	64693	broad.mit.edu	37	chr18	19995559	19995559	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatgtgggggctggggggAaaaatgcaggtcttggggga	21	3	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:19995559A>G	uc002ktv.1	-	1	2320	c.2216T>C	c.(2215-2217)TTC>TCC	p.F739S		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	739	Pro-rich.					integral to membrane				ovary(1)	1	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGCTGGGGGGAAAAATGCAGG	0.502													G	19995559	A	G	19995559	3	3	63	1	0	0	0	0	1	0	0	0	3992	246	9	3	25	3	CTAGE1	18	19995559	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	5889584	19995559	58081689	1563	46296											
RBBP8	5932	broad.mit.edu	37	chr18	20572908	20572909	+	Frame_Shift_Ins	INS	-	-	A													acttgtatatctagattagaINSaaaaactagatcaaaatctg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:20572907_20572908G>GA	uc002kua.3	+	10	1240_1241	c.1117_1118G>GA	c.(1117-1119)gaafs	p.E373fs	RBBP8_uc002ktw.3_Frame_Shift_Ins_p.E373fs|RBBP8_uc002kty.3_Frame_Shift_Ins_p.E373fs|RBBP8_uc002ktz.3_Frame_Shift_Ins_p.E373fs|RBBP8_uc002ktx.1_Frame_Shift_Ins_p.E373fs	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	373					DNA double-strand break processing involved in repair via single-strand annealing|cell cycle checkpoint|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			ATCTAGATTAGAAAAAACTAGA	0.342								Homologous recombination					A	20572909	-	A	20572908	7	5	63	1	0	1	1	0	0	0	0	0	13105	246	9	0	1156	0	RBBP8	18	20572908	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	577349	20572908	57504340	1564	46297											
IMPACT	55364	broad.mit.edu	37	chr18	22008870	22008870	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacccaggtacagctccacCtatctaccagttgaagtaag	7	12	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:22008870C>A	uc002kvh.3	+	3	315	c.203C>A	c.(202-204)CCT>CAT	p.P68H	IMPACT_uc002kvg.3_Missense_Mutation_p.P50H	NM_018439	NP_060909	Q9P2X3	IMPCT_HUMAN	Impact homolog	68	RWD.										0	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					ACAGCTCCACCTATCTACCAG	0.338													A	22008870	C	A	22008870	3	1	63	1	0	0	0	0	1	0	0	0	7724	681	24	5	213	5	IMPACT	18	22008870	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1435962	22008870	56068378	1565	46298											
ZNF521	25925	broad.mit.edu	37	chr18	22804319	22804319	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgagttacctcatccgacTgggagggactgattctgggc	15	10	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:22804319T>C	uc002kvk.2	-	4	3810	c.3563A>G	c.(3562-3564)CAG>CGG	p.Q1188R	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.Q1188R|ZNF521_uc002kvl.2_Missense_Mutation_p.Q968R	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	1188					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTCATCCGACTGGGAGGGACT	0.463			T	PAX5	ALL								C	22804319	T	C	22804319	3	2	63	1	0	0	0	0	1	0	0	0	17962	1580	55	3	392	3	ZNF521	18	22804319	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	795449	22804319	55272929	1566	46299											
DSC2	1824	broad.mit.edu	37	chr18	28669460	28669461	+	Frame_Shift_Del	DEL	TC	TC	-													tacaatacaagtttccagtgTctctctccacataaaataaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:28669459_28669460GTC>G	uc002kwl.4	-	4	1026_1027	c.572_573GAC>C	c.(571-573)gacfs	p.D191fs	DSC2_uc002kwk.4_Frame_Shift_Del_p.D191fs	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	191	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AGTTTCCAGTGTCTCTCTCCAC	0.391													-	28669461	TC	-	28669460	7	5	63	1	0	1	0	1	0	0	0	0	4766	1667	58	0	2221	0	DSC2	18	28669460	Frame_Shift_Del	DEL	TC	TCGA-BR-8078-01A-11D-2340-08	5865141	28669460	49407788	1567	46300											
KLHL14	57565	broad.mit.edu	37	chr18	30257165	30257165	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtagcctcccacaaggtAaatgctgtcatcaagcactg	9	12	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:30257165A>G	uc002kxm.1	-	8	2105	c.1717T>C	c.(1717-1719)TAC>CAC	p.Y573H	KLHL14_uc010dmd.1_Missense_Mutation_p.Y122H	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	573	Kelch 6.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						CCCACAAGGTAAATGCTGTCA	0.463													G	30257165	A	G	30257165	3	3	63	1	0	0	0	0	1	0	0	0	8370	362	13	3	177	3	KLHL14	18	30257165	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	1587705	30257165	47820083	1568	46301											
SLC39A6	25800	broad.mit.edu	37	chr18	33694127	33694127	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accatccaggccagagtggcGacgccggcatctttcagctc	11	15	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:33694127G>A	uc010dmy.2	-	7	2066	c.1776C>T	c.(1774-1776)GTC>GTT	p.V592V	SLC39A6_uc002kzj.2_Silent_p.V317V	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	592	Cytoplasmic (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2						CCAGAGTGGCGACGCCGGCAT	0.318													A	33694127	G	A	33694127	2	1	63	1	0	0	0	0	0	0	0	1	14622	1045	37	1		1	SLC39A6	18	33694127	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3436962	33694127	44383121	1569	46302											
FHOD3	80206	broad.mit.edu	37	chr18	34349297	34349297	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agatgatgcagctgatgagaTcatggaccgcatcgtcaagt	12	8	2	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:34349297T>A	uc002kzt.1	+	23	4191	c.4094T>A	c.(4093-4095)ATC>AAC	p.I1365N	FHOD3_uc002kzs.1_Missense_Mutation_p.I1382N|FHOD3_uc010dmz.1_Missense_Mutation_p.I1097N|FHOD3_uc010dnb.1_Missense_Mutation_p.S303T	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1365	DAD.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GCTGATGAGATCATGGACCGC	0.527													A	34349297	T	A	34349297	3	1	63	1	0	0	0	0	1	0	0	0	5883	1435	50	5	4239	5	FHOD3	18	34349297	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	655170	34349297	43727951	1570	46303											
PIK3C3	5289	broad.mit.edu	37	chr18	39637886	39637886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttggatatattttgggtcGggatccaaagcctcttcctc	9	10	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:39637886G>A	uc002lap.2	+	22	2361	c.2303G>A	c.(2302-2304)CGG>CAG	p.R768Q	PIK3C3_uc010xcl.1_Missense_Mutation_p.R705Q|PIK3C3_uc002laq.2_Missense_Mutation_p.R253Q	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	768	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10						ATTTTGGGTCGGGATCCAAAG	0.428										TSP Lung(28;0.18)			A	39637886	G	A	39637886	3	1	63	1	0	0	0	0	1	0	0	0	11912	1116	39	1	2389	1	PIK3C3	18	39637886	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	5288589	39637886	38439362	1571	46304											
SYT4	6860	broad.mit.edu	37	chr18	40857246	40857246	+	Frame_Shift_Del	DEL	T	T	-													gctggtggtgatcggagccaTtttttactgcgtgttctgtc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:40857246delT	uc002law.2	-	1	370	c.1delA	c.(1-3)ATGfs	p.M1fs	SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Frame_Shift_Del_p.M1fs|SYT4_uc010dnh.2_Intron	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	1	Vesicular (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(5)	5						ATCGGAGCCATTTTTTACTGC	0.493													-	40857246	T	-	40857246	7	5	63	1	0	1	0	1	0	0	0	0	15473	1493	52	0	1292	0	SYT4	18	40857246	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	1219360	40857246	37220002	1572	46305											
SLC14A2	8170	broad.mit.edu	37	chr18	43207012	43207012	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcctctcagcggcctcatcAtcttcatagggctgctgatc	8	14	5	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:43207012A>G	uc010dnj.2	+	5	742	c.421A>G	c.(421-423)ATC>GTC	p.I141V	SLC14A2_uc002lbb.2_Missense_Mutation_p.I141V|SLC14A2_uc002lbe.2_Missense_Mutation_p.I141V	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	141						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						CGGCCTCATCATCTTCATAGG	0.557													G	43207012	A	G	43207012	3	3	63	1	0	0	0	0	1	0	0	0	14397	217	8	3	431	3	SLC14A2	18	43207012	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	2349766	43207012	34870236	1573	46306											
PSTPIP2	9050	broad.mit.edu	37	chr18	43595906	43595906	+	Splice_Site	DEL	A	A	-													agggcccgcttcagggtgctAaaaaaaacaagcacatatat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:43595905_43595905TA>T	uc002lbp.4	-	4	309	c.213_splice	c.e4-1	p.N71_splice	PSTPIP2_uc002lbq.4_Splice_Site_p.N71_splice	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	71	FCH.					membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TTCAGGGTGCTAAAAAAAACA	0.383													-	43595906	A	-	43595906	8	5	63	1	0	1	0	1	0	0	1	0	12722	377	13	0		0	PSTPIP2	18	43595906	Splice_Site	DEL	A	TCGA-BR-8078-01A-11D-2340-08	388894	43595906	34481342	1574	46307											
PIAS2	9063	broad.mit.edu	37	chr18	44470593	44470593	+	Frame_Shift_Del	DEL	T	T	-													ggacatcataaaagggcagaTtttttaactgcacatcagga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:44470593delT	uc002lck.2	-	2	607	c.449delA	c.(448-450)AATfs	p.N150fs	PIAS2_uc010dnp.2_5'UTR|PIAS2_uc002lcl.2_Frame_Shift_Del_p.N150fs|PIAS2_uc010xda.1_Intron|PIAS2_uc002lcm.2_Frame_Shift_Del_p.N150fs|PIAS2_uc002lcn.1_Frame_Shift_Del_p.N154fs	NM_004671	NP_004662	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT X isoform	150	PINIT.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						AAAGGGCAGATTTTTTAACTG	0.423													-	44470593	T	-	44470593	7	5	63	1	0	1	0	1	0	0	0	0	11876	1493	52	0	1543	0	PIAS2	18	44470593	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	874687	44470593	33606655	1575	46308											
ZBTB7C	201501	broad.mit.edu	37	chr18	45567076	45567076	+	Frame_Shift_Del	DEL	C	C	-													gtcctccttgtcatcctcctCccccccgtcccccccaggct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:45567076delC	uc002lda.2	-	1	419	c.403delG	c.(403-405)GAGfs	p.E135fs	ZBTB7C_uc002ldb.2_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnu.2_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dnv.2_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dnw.2_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnx.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dny.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnz.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dob.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doc.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dod.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010doe.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dof.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dog.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doh.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010doi.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doj.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dok.1_Frame_Shift_Del_p.E184fs|ZBTB7C_uc010dol.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010doa.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010don.1_Frame_Shift_Del_p.E143fs|ZBTB7C_uc010doo.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dop.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doq.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dor.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dos.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dot.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dou.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dom.1_Frame_Shift_Del_p.E144fs	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	135	Glu-rich.|Asp-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						tcatcctcctcccccccgtcc	0.279													-	45567076	C	-	45567076	7	5	63	1	0	1	0	1	0	0	0	0	17552	864	30	0	1464	0	ZBTB7C	18	45567076	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	1096483	45567076	32510172	1576	46309											
CCDC11	220136	broad.mit.edu	37	chr18	47777861	47777861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggcccaccacaaggcgtGcctcctcttccttcagcagc	8	17	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:47777861G>A	uc002lee.2	-	4	858	c.767C>T	c.(766-768)GCA>GTA	p.A256V		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	256	Potential.									ovary(1)|pancreas(1)|skin(1)	3				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CACAAGGCGTGCCTCCTCTTC	0.532													A	47777861	G	A	47777861	3	1	63	1	0	0	0	0	1	0	0	0	2746	1319	46	2	797	2	CCDC11	18	47777861	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2210785	47777861	30299387	1577	46310											
NEDD4L	23327	broad.mit.edu	37	chr18	56008369	56008369	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actatgtcaatcataacaatCgaaccacaacttggactcga	5	11	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:56008369C>T	uc002lgy.2	+	14	1499	c.1225C>T	c.(1225-1227)CGA>TGA	p.R409*	NEDD4L_uc002lgz.2_Intron|NEDD4L_uc002lgx.2_Nonsense_Mutation_p.R389*|NEDD4L_uc010xee.1_Nonsense_Mutation_p.R288*|NEDD4L_uc002lhc.2_Nonsense_Mutation_p.R401*|NEDD4L_uc002lhd.2_Nonsense_Mutation_p.R288*|NEDD4L_uc002lhb.2_Nonsense_Mutation_p.R268*|NEDD4L_uc002lhe.2_Nonsense_Mutation_p.R381*|NEDD4L_uc002lhf.2_Nonsense_Mutation_p.R268*|NEDD4L_uc002lhg.2_Nonsense_Mutation_p.R288*|NEDD4L_uc002lhh.2_Intron|NEDD4L_uc010dpm.1_Intron	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally	409	WW 2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			lung(4)	4						TCATAACAATCGAACCACAAC	0.488													T	56008369	C	T	56008369	4	4	63	1	0	0	0	0	0	1	0	0	10311	876	31	1	1307	1	NEDD4L	18	56008369	Nonsense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	8230508	56008369	22068879	1578	46311											
LMAN1	3998	broad.mit.edu	37	chr18	57013285	57013286	+	Splice_Site	INS	-	-	T													ttctttatctggtgtgggctINStttttttggagttttggaat							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:57013284_57013285C>CT	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CTGGTGTGGGCTTTTTTTTGGA	0.297													T	57013286	-	T	57013285	8	5	63	1	0	1	1	0	0	0	1	0	8836	1623	56	0	735	0	LMAN1	18	57013285	Splice_Site	INS	-	TCGA-BR-8078-01A-11D-2340-08	1004916	57013285	21063963	1579	46312											
CDH20	28316	broad.mit.edu	37	chr18	59158026	59158026	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggaccgaccctttgtatgtCggcaaggtaagaaatgccaa	12	9	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:59158026C>T	uc010dps.1	+	1	252	c.240C>T	c.(238-240)GTC>GTT	p.V80V	CDH20_uc002lif.2_Silent_p.V74V	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	80	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				CTTTGTATGTCGGCAAGGTAA	0.448													T	59158026	C	T	59158026	2	4	63	1	0	0	0	0	0	0	0	1	3106	871	31	1		1	CDH20	18	59158026	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2144741	59158026	18919222	1580	46313											
RNF152	220441	broad.mit.edu	37	chr18	59483784	59483784	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtgtctttgcagtgcaGgtaatggcaagctcacaggc	12	11	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:59483784G>T	uc002lih.1	-	2	325	c.-87C>A	c.(-89--85)ACCTG>ACATG			NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	ring finger protein 152						apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)	1		Colorectal(73;0.186)				TTGCAGTGCAGGTAATGGCAA	0.493													T	59483784	G	T	59483784	1	4	63	1	0	0	0	0	0	0	0	0	13453	1015	35	5		5	RNF152	18	59483784	Translation_Start_Site	SNP	G	TCGA-BR-8078-01A-11D-2340-08	325758	59483784	18593464	1581	46314											
RTTN	25914	broad.mit.edu	37	chr18	67684875	67684875	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttatttcctccttttggCaatgctagagagaggaagtt	10	6	0	2	rs77798966	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:67684875C>T	uc002lkp.2	-	46	6257	c.6189G>A	c.(6187-6189)TTG>TTA	p.L2063L	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.L1151L|RTTN_uc002lkn.2_Silent_p.L53L|RTTN_uc010dqp.2_Silent_p.L315L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	2063							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				CTCCTTTTGGCAATGCTAGAG	0.343													T	67684875	C	T	67684875	2	4	63	1	0	0	0	0	0	0	0	1	13737	709	25	2		2	RTTN	18	67684875	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	8201091	67684875	10392373	1582	46315											
RTTN	25914	broad.mit.edu	37	chr18	67869182	67869182	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattacttttgtcttggggAaaatatcctgttaagatttc	7	5	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:67869182A>G	uc002lkp.2	-	4	503	c.435T>C	c.(433-435)TTT>TTC	p.F145F	RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Silent_p.F145F	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	145							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				TGTCTTGGGGAAAATATCCTG	0.373													G	67869182	A	G	67869182	2	3	63	1	0	0	0	0	0	0	0	1	13737	243	9	3		3	RTTN	18	67869182	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	184307	67869182	10208066	1583	46316											
CBLN2	147381	broad.mit.edu	37	chr18	70205457	70205457	+	Frame_Shift_Del	DEL	C	C	-													agaatgtggagtatttccagCcccccatgaggttgcctctc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:70205457delC	uc002lku.2	-	4	864	c.629delG	c.(628-630)GGCfs	p.G210fs	CBLN2_uc002lkv.2_Frame_Shift_Del_p.G210fs	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	210	C1q.					integral to membrane					0		Esophageal squamous(42;0.131)				GTATTTCCAGCCCCCCATGAG	0.537													-	70205457	C	-	70205457	7	5	63	1	0	1	0	1	0	0	0	0	2705	739	26	0	49	0	CBLN2	18	70205457	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	2336275	70205457	7871791	1584	46317											
NETO1	81832	broad.mit.edu	37	chr18	70417577	70417577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatttggaagatgacctccGcagtttatggtaattttcaa	9	7	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:70417577G>A	uc002lkw.2	-	9	1545	c.1261C>T	c.(1261-1263)CGG>TGG	p.R421W	NETO1_uc002lkx.1_Missense_Mutation_p.R420W|NETO1_uc002lky.1_Missense_Mutation_p.R421W	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	421	Cytoplasmic (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GATGACCTCCGCAGTTTATGG	0.458													A	70417577	G	A	70417577	3	1	63	1	0	0	0	0	1	0	0	0	10339	1086	38	1	348	1	NETO1	18	70417577	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	212120	70417577	7659671	1585	46318											
CNDP2	55748	broad.mit.edu	37	chr18	72185805	72185805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaggtgtacatgggccaCggtgggaagccctgggtctc	15	10	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:72185805C>T	uc002llm.1	+	10	1302	c.1140C>T	c.(1138-1140)CAC>CAT	p.H380H	CNDP2_uc002lln.1_Silent_p.H296H|CNDP2_uc010dqs.2_Intron	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2	380						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			ovary(2)|skin(1)	3		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		ACATGGGCCACGGTGGGAAGC	0.512													T	72185805	C	T	72185805	2	4	63	1	0	0	0	0	0	0	0	1	3594	535	19	1		1	CNDP2	18	72185805	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1768228	72185805	5891443	1586	46319											
SALL3	27164	broad.mit.edu	37	chr18	76753717	76753717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcaaccacgtggagtccGgcgtgtcggccaccgccgag	14	16	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:76753717G>A	uc002lmt.2	+	2	1726	c.1726G>A	c.(1726-1728)GGC>AGC	p.G576S	SALL3_uc010dra.2_Missense_Mutation_p.G183S	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGTGGAGTCCGGCGTGTCGGC	0.746													A	76753717	G	A	76753717	3	1	63	1	0	0	0	0	1	0	0	0	13812	1116	39	1	1732	1	SALL3	18	76753717	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	4567912	76753717	1323531	1587	46320											
ATP9B	374868	broad.mit.edu	37	chr18	77090075	77090075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtggccatgtctcctatcGtgcagtataatgactggctg	11	10	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:77090075G>A	uc002lmx.2	+	17	2013	c.1999G>A	c.(1999-2001)GTG>ATG	p.V667M	ATP9B_uc002lmw.1_Missense_Mutation_p.V667M|ATP9B_uc002lmz.1_Missense_Mutation_p.V361M	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	667	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GTCTCCTATCGTGCAGTATAA	0.463													A	77090075	G	A	77090075	3	1	63	1	0	0	0	0	1	0	0	0	1199	1145	40	1	2065	1	ATP9B	18	77090075	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	336358	77090075	987173	1588	46321											
ADNP2	22850	broad.mit.edu	37	chr18	77895658	77895658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatcaaaggtctttcagagCacagcaggaataggcacctg	10	9	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:77895658C>T	uc002lnw.2	+	4	2817	c.2362C>T	c.(2362-2364)CAC>TAC	p.H788Y		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	788	C2H2-type 3.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TCTTTCAGAGCACAGCAGGAA	0.473													T	77895658	C	T	77895658	3	4	63	1	0	0	0	0	1	0	0	0	324	710	25	2	2372	2	ADNP2	18	77895658	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	805583	77895658	181590	1589	46322											
C19orf21	126353	broad.mit.edu	37	chr19	761663	761663	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcggacggtatcaactcagaGgtgagtatgctcctgggcac	13	10	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:761663G>T	uc002lpo.2	+	4	2033	c.1950G>T	c.(1948-1950)GAG>GAT	p.E650D		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	hypothetical protein LOC126353	650										upper_aerodigestive_tract(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAACTCAGAGGTGAGTATGC	0.607													T	761663	G	T	761663	3	4	63	1	0	0	0	0	1	0	0	0	1913	1014	35	5	1960	5	C19orf21	19	761663	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08		761663	58367320	1590	46323											
PTBP1	5725	broad.mit.edu	37	chr19	807901	807901	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaagcctctttattcttttCggtatgttatcgttcacact	5	10	3	0	rs138165723		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:807901C>T	uc002lpr.2	+	10	1180	c.1074C>T	c.(1072-1074)TTC>TTT	p.F358F	PTBP1_uc002lpp.2_Silent_p.F384F|PTBP1_uc002lpq.2_Silent_p.F377F|PTBP1_uc002lps.2_Silent_p.F24F|PTBP1_uc002lpt.2_Intron|PTBP1_uc002lpu.1_Silent_p.F354F	NM_031991	NP_114368	P26599	PTBP1_HUMAN	polypyrimidine tract-binding protein 1 isoform	358	RRM 3.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			kidney(1)|skin(1)	2		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTATTCTTTTCGGTATGTTAT	0.468													T	807901	C	T	807901	2	4	63	1	0	0	0	0	0	0	0	1	12725	898	31	1		1	PTBP1	19	807901	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	46238	807901	58321082	1591	46324											
WDR18	57418	broad.mit.edu	37	chr19	990308	990308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcacggacctgcactgcGgctttgggggccccctggcc	13	17	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:990308G>A	uc002lqm.1	+	4	567	c.541G>A	c.(541-543)GGC>AGC	p.G181S	WDR18_uc002lqn.1_RNA|WDR18_uc010drx.1_Missense_Mutation_p.G144S|WDR18_uc010dry.1_Missense_Mutation_p.G181S	NM_024100	NP_077005	Q9BV38	WDR18_HUMAN	WD repeat domain 18	181	WD 4.									skin(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCACTGCGGCTTTGGGGG	0.726													A	990308	G	A	990308	3	1	63	1	0	0	0	0	1	0	0	0	17275	1116	39	1	555	1	WDR18	19	990308	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	182407	990308	58138675	1592	46325											
GRIN3B	116444	broad.mit.edu	37	chr19	1007861	1007861	+	Frame_Shift_Del	DEL	C	C	-													cccggccccagcaggagcgaCccccccaagctcaacgcctt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:1007860_1007860AC>A	uc002lqo.1	+	4	2204	c.2204_2204AC>A	c.(2203-2205)gacfs	p.D735fs	FLJ00277_uc002lqp.1_Non-coding_Transcript	NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	735					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	AGCAGGAGCGACCCCCCCAAG	0.706													-	1007861	C	-	1007861	7	5	63	1	0	1	0	1	0	0	0	0	6784	506	18	0	2223	0	GRIN3B	19	1007861	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	17553	1007861	58121122	1593	46326											
ABCA7	10347	broad.mit.edu	37	chr19	1056183	1056183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctggcggggccctcgacCgtgtcctgaaaaacctcaca	11	15	1	1	rs144562001	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:1056183C>T	uc002lqw.3	+	32	4588	c.4357C>T	c.(4357-4359)CGT>TGT	p.R1453C	ABCA7_uc002lqy.2_5'Flank|ABCA7_uc010dsc.2_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1453	Extracellular (By similarity).				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCTCGACCGTGTCCTGAA	0.677													T	1056183	C	T	1056183	3	4	63	1	0	0	0	0	1	0	0	0	37	652	23	1	4479	1	ABCA7	19	1056183	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	48322	1056183	58072800	1594	46327											
MIDN	90007	broad.mit.edu	37	chr19	1257111	1257111	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgggacgcgcggggtccgtAccactggtcacccagccgca	15	16	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:1257111A>G	uc002lrp.2	+	8	1762	c.1247A>G	c.(1246-1248)TAC>TGC	p.Y416C		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	416						nucleolus					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGTCCGTACCACTGGTCA	0.706													G	1257111	A	G	1257111	3	3	63	1	0	0	0	0	1	0	0	0	9579	391	14	3	1273	3	MIDN	19	1257111	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	200928	1257111	57871872	1595	46328											
EFNA2	1943	broad.mit.edu	37	chr19	1299833	1299833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacccgcagacgagaccctGtacgaggctcctgagcccat	10	17	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:1299833G>A	uc002lry.1	+	4	531	c.531G>A	c.(529-531)CTG>CTA	p.L177L		NM_001405	NP_001396	O43921	EFNA2_HUMAN	ephrin-A2 precursor	177					cell-cell signaling	anchored to membrane|plasma membrane	ephrin receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGAGACCCTGTACGAGGCTC	0.687													A	1299833	G	A	1299833	2	1	63	1	0	0	0	0	0	0	0	1	4951	1364	48	4		4	EFNA2	19	1299833	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	42722	1299833	57829150	1596	46329											
MBD3	53615	broad.mit.edu	37	chr19	1581146	1581146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggctgcgtggtgttgaGccatacgccggggttcttct	16	10	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:1581146G>A	uc002ltl.1	-	5	644	c.622C>T	c.(622-624)CTC>TTC	p.L208F	MBD3_uc002ltj.2_Missense_Mutation_p.L208F|MBD3_uc002ltk.2_Missense_Mutation_p.L176F	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	208					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGTGTTGAGCCATACGCCG	0.642													A	1581146	G	A	1581146	3	1	63	1	0	0	0	0	1	0	0	0	9344	971	34	2	261	2	MBD3	19	1581146	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	281313	1581146	57547837	1597	46330											
ATP8B3	148229	broad.mit.edu	37	chr19	1796734	1796734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctcacgggggctctcccGcaccatcaccgtgtggcaga	13	16	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:1796734G>A	uc002ltw.2	-	16	1963	c.1729C>T	c.(1729-1731)CGG>TGG	p.R577W	ATP8B3_uc002ltv.2_Missense_Mutation_p.R530W|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	577	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCTCTCCCGCACCATCACC	0.721													A	1796734	G	A	1796734	3	1	63	1	0	0	0	0	1	0	0	0	1196	1086	38	1	2259	1	ATP8B3	19	1796734	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	215588	1796734	57332249	1598	46331											
C19orf36	113177	broad.mit.edu	37	chr19	2099002	2099002	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgccttctcctggccTgggacacacagagccacccc	8	19	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:2099002T>C	uc002luw.1	+	9	659	c.582T>C	c.(580-582)CCT>CCC	p.P194P	C19orf36_uc002lux.1_Intron|C19orf36_uc010xgw.1_3'UTR	NM_001039846	NP_001034935	Q1ZYL8	IZUM4_HUMAN	hypothetical protein LOC113177 isoform 3	194						extracellular region					0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCCTGGCCTGGGACACACA	0.622													C	2099002	T	C	2099002	2	2	63	1	0	0	0	0	0	0	0	1	1921	1567	55	3		3	C19orf36	19	2099002	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	302268	2099002	57029981	1599	46332											
C19orf28	126321	broad.mit.edu	37	chr19	3542859	3542859	+	Frame_Shift_Del	DEL	G	G	-													cctggtgcacctccaggccaGgggggcttcccagaggaagg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:3542859delG	uc002lxw.2	-	10	1707	c.1537delC	c.(1537-1539)CTGfs	p.L513fs	C19orf28_uc002lxx.2_Intron|C19orf28_uc010dtl.1_5'Flank|C19orf71_uc010xhm.1_Intron	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform a	Error:Variant_position_missing_in_Q6NUT3_after_alignment					transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAGGCCAGGGGGGCTTCC	0.557													-	3542859	G	-	3542859	7	5	63	1	0	1	0	1	0	0	0	0	1917	991	35	0	89	0	C19orf28	19	3542859	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	1443857	3542859	55586124	1600	46333											
GIPC3	126326	broad.mit.edu	37	chr19	3589527	3589527	+	Frame_Shift_Del	DEL	G	G	-													agaccctgcggcttcgttctGggggggctgccacagtggag							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:3589526_3589526TG>T	uc002lyd.4	+	3	705	c.678_678TG>T	c.(676-678)tctfs	p.S226fs		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 3 (GIPC3), mRNA.	226								p.S226F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTTCGTTCTGGGGGGGCTG	0.612													-	3589527	G	-	3589527	7	5	63	1	0	1	0	1	0	0	0	0	6394	1348	47	0	693	0	GIPC3	19	3589527	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	46668	3589527	55539456	1601	46334											
MATK	4145	broad.mit.edu	37	chr19	3779589	3779589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggatcacgcccaggagaCgcaccaggttctcgtgttgc	13	13	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:3779589C>T	uc002lyt.2	-	10	1269	c.869G>A	c.(868-870)CGT>CAT	p.R290H	MATK_uc002lyv.2_Missense_Mutation_p.R291H|MATK_uc002lyu.2_Missense_Mutation_p.R249H|MATK_uc010dtq.2_Missense_Mutation_p.R290H	NM_139355	NP_647612	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase isoform	290	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCAGGAGACGCACCAGGTT	0.721													T	3779589	C	T	3779589	3	4	63	1	0	0	0	0	1	0	0	0	9332	536	19	1	674	1	MATK	19	3779589	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	190062	3779589	55349394	1602	46335											
TMIGD2	126259	broad.mit.edu	37	chr19	4298063	4298063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccgcccagcacacgtacGccccgctgtggttgaggctc	13	17	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:4298063G>A	uc002lzx.1	-	2	372	c.326C>T	c.(325-327)GCG>GTG	p.A109V	TMIGD2_uc010dtv.1_Missense_Mutation_p.A109V	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain	109	Extracellular (Potential).|Ig-like.					integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACACGTACGCCCCGCTGTG	0.662													A	4298063	G	A	4298063	3	1	63	1	0	0	0	0	1	0	0	0	16228	1087	38	1	538	1	TMIGD2	19	4298063	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	518474	4298063	54830920	1603	46336											
DPP9	91039	broad.mit.edu	37	chr19	4703929	4703929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtcagccgccgctcctcGcctgtctcgatgttggccac	11	16	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:4703929G>A	uc002mba.2	-	7	996	c.738C>T	c.(736-738)GGC>GGT	p.G246G	DPP9_uc002mbb.2_Silent_p.G246G|DPP9_uc002mbc.2_Silent_p.G246G	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9	217					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCCGCTCCTCGCCTGTCTCGA	0.642													A	4703929	G	A	4703929	2	1	63	1	0	0	0	0	0	0	0	1	4733	1074	38	1		1	DPP9	19	4703929	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	405866	4703929	54425054	1604	46337											
UHRF1	29128	broad.mit.edu	37	chr19	4932935	4932935	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggaagcgcgagaccaggaCggcgcgggaactctacgcca	15	13	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:4932935C>A	uc002mbo.2	+	5	920	c.752C>A	c.(751-753)ACG>AAG	p.T251K	UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.T264K	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	251					cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GAGACCAGGACGGCGCGGGAA	0.677													A	4932935	C	A	4932935	3	1	63	1	0	0	0	0	1	0	0	0	16964	536	19	5	805	5	UHRF1	19	4932935	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	229006	4932935	54196048	1605	46338											
KDM4B	23030	broad.mit.edu	37	chr19	5144107	5144107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgtgctcatggagccggacGactggccctatgtggtctcc	14	13	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:5144107G>A	uc002mbq.3	+	19	2906	c.2680G>A	c.(2680-2682)GAC>AAC	p.D894N	KDM4B_uc010xim.1_Missense_Mutation_p.D928N|KDM4B_uc002mbr.3_Missense_Mutation_p.D652N	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	894	PHD-type 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						GGAGCCGGACGACTGGCCCTA	0.667													A	5144107	G	A	5144107	3	1	63	1	0	0	0	0	1	0	0	0	8129	1058	37	1	2746	1	KDM4B	19	5144107	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	211172	5144107	53984876	1606	46339											
KDM4B	23030	broad.mit.edu	37	chr19	5144277	5144277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtccaactcctgagggccGtgtccctaggccaggtggtc	14	13	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:5144277G>A	uc002mbq.3	+	20	2981	c.2755G>A	c.(2755-2757)GTG>ATG	p.V919M	KDM4B_uc010xim.1_Missense_Mutation_p.V953M|KDM4B_uc002mbr.3_Missense_Mutation_p.V677M	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	919	Tudor 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						CCTGAGGGCCGTGTCCCTAGG	0.687													A	5144277	G	A	5144277	3	1	63	1	0	0	0	0	1	0	0	0	8129	1145	40	1	2825	1	KDM4B	19	5144277	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	170	5144277	53984706	1607	46340											
PTPRS	5802	broad.mit.edu	37	chr19	5222849	5222849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgcccggctcagccgctGccggcagctcagtctctcgg	13	19	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:5222849G>A	uc002mbv.2	-	18	3188	c.2954C>T	c.(2953-2955)GCA>GTA	p.A985V	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Missense_Mutation_p.A963V|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	985	Fibronectin type-III 7.|Extracellular (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CTCAGCCGCTGCCGGCAGCTC	0.736													A	5222849	G	A	5222849	3	1	63	1	0	0	0	0	1	0	0	0	12811	1319	46	2	2976	2	PTPRS	19	5222849	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	78572	5222849	53906134	1608	46341											
PTPRS	5802	broad.mit.edu	37	chr19	5244269	5244269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctggccgatggagttgaCggccgacacccagatctcgt	12	15	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:5244269C>T	uc002mbv.2	-	11	1447	c.1213G>A	c.(1213-1215)GTC>ATC	p.V405I	PTPRS_uc002mbu.1_Missense_Mutation_p.V392I|PTPRS_uc010xin.1_Missense_Mutation_p.V392I|PTPRS_uc002mbw.2_Missense_Mutation_p.V392I|PTPRS_uc002mbx.2_Missense_Mutation_p.V396I|PTPRS_uc002mby.2_Missense_Mutation_p.V392I	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	405	Fibronectin type-III 1.|Extracellular (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		ATGGAGTTGACGGCCGACACC	0.667													T	5244269	C	T	5244269	3	4	63	1	0	0	0	0	1	0	0	0	12811	536	19	1	4745	1	PTPRS	19	5244269	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	21420	5244269	53884714	1609	46342											
ZNRF4	148066	broad.mit.edu	37	chr19	5456563	5456563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgccccgtgtgcaaacagtCggtggccgccacagaagaca	12	14	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:5456563C>T	uc002mca.3	+	1	1138	c.1061C>T	c.(1060-1062)TCG>TTG	p.S354L		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	354	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		TGCAAACAGTCGGTGGCCGCC	0.632													T	5456563	C	T	5456563	3	4	63	1	0	0	0	0	1	0	0	0	18211	893	31	1	1063	1	ZNRF4	19	5456563	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	212294	5456563	53672420	1610	46343											
SLC25A41	284427	broad.mit.edu	37	chr19	6427487	6427487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgtactggcccgtccgaCgcaaggtcaaccgcgtcttc	10	16	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:6427487C>T	uc010dus.2	-	5	736	c.650G>A	c.(649-651)CGT>CAT	p.R217H	KHSRP_uc002mer.3_5'Flank|SLC25A41_uc010dut.2_Missense_Mutation_p.R79H	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	217	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						GCCCGTCCGACGCAAGGTCAA	0.493													T	6427487	C	T	6427487	3	4	63	1	0	0	0	0	1	0	0	0	14506	536	19	1	474	1	SLC25A41	19	6427487	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	970924	6427487	52701496	1611	46344											
DENND1C	79958	broad.mit.edu	37	chr19	6468083	6468083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaaggggctggggctccGgctctggtagtttcttatcg	17	8	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:6468083G>A	uc002mfe.2	-	23	1930	c.1838C>T	c.(1837-1839)CCG>CTG	p.P613L	DENND1C_uc002mfb.2_Missense_Mutation_p.P163L|DENND1C_uc002mfc.2_Missense_Mutation_p.P163L|DENND1C_uc002mfd.2_Missense_Mutation_p.P163L|DENND1C_uc010xje.1_Missense_Mutation_p.P569L	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	613						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1						CTGGGGCTCCGGCTCTGGTAG	0.547													A	6468083	G	A	6468083	3	1	63	1	0	0	0	0	1	0	0	0	4428	1116	39	1	571	1	DENND1C	19	6468083	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	40596	6468083	52660900	1612	46345											
ARHGEF18	23370	broad.mit.edu	37	chr19	7527040	7527040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccatcactctgcagagCggttgagcatgaaagaccag	10	12	2	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:7527040C>T	uc002mgi.2	+	11	2144	c.1891C>T	c.(1891-1893)CGG>TGG	p.R631W	ARHGEF18_uc010xjm.1_Missense_Mutation_p.R473W|ARHGEF18_uc002mgh.2_Missense_Mutation_p.R473W|ARHGEF18_uc002mgj.1_Missense_Mutation_p.R274W	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	631					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				CTCTGCAGAGCGGTTGAGCAT	0.617													T	7527040	C	T	7527040	3	4	63	1	0	0	0	0	1	0	0	0	901	759	27	1	1933	1	ARHGEF18	19	7527040	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1058957	7527040	51601943	1613	46346											
SNAPC2	6618	broad.mit.edu	37	chr19	7987438	7987438	+	Frame_Shift_Del	DEL	C	C	-													gacgtacctacgcctgacagCcccccagcccattcccgctg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:7987437_7987437GC>G	uc002miw.2	+	4	851	c.793_793GC>G	c.(793-795)gccfs	p.A265fs	SNAPC2_uc002mix.2_Non-coding_Transcript	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 2, 45kDa (SNAPC2), transcript variant 1, mRNA.	265					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						ACGCCTGACAGCCCCCCAGCC	0.652													-	7987438	C	-	7987438	7	5	63	1	0	1	0	1	0	0	0	0	14835	739	26	0	812	0	SNAPC2	19	7987438	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	460398	7987438	51141545	1614	46347											
ELAVL1	1994	broad.mit.edu	37	chr19	8046031	8046031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctctctctgcatccttcGcggtcacgtagttcacaaag	8	14	4	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:8046031G>A	uc002mjb.2	-	3	379	c.212C>T	c.(211-213)GCG>GTG	p.A71V		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	ELAV-like 1	71	RRM 1.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding				0						TGCATCCTTCGCGGTCACGTA	0.527													A	8046031	G	A	8046031	3	1	63	1	0	0	0	0	1	0	0	0	5049	1087	38	1	784	1	ELAVL1	19	8046031	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	58593	8046031	51082952	1615	46348											
FBN3	84467	broad.mit.edu	37	chr19	8171112	8171112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcagctcttggcactcgtCgatgtctgtcaggaagtaag	13	9	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:8171112C>T	uc002mjf.2	-	37	4714	c.4693G>A	c.(4693-4695)GAC>AAC	p.D1565N		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1565	EGF-like 24; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						TGGCACTCGTCGATGTCTGTC	0.582													T	8171112	C	T	8171112	3	4	63	1	0	0	0	0	1	0	0	0	5704	884	31	1	3844	1	FBN3	19	8171112	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	125081	8171112	50957871	1616	46349											
ADAMTS10	81794	broad.mit.edu	37	chr19	8656952	8656952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtccacaccctctgggcgCgacccaaaggggacacagac	11	17	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:8656952C>T	uc002mkj.1	-	14	1897	c.1623G>A	c.(1621-1623)TCG>TCA	p.S541S	ADAMTS10_uc002mki.1_Missense_Mutation_p.R32H|ADAMTS10_uc002mkk.1_Silent_p.S173S	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	541	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						CCTCTGGGCGCGACCCAAAGG	0.687													T	8656952	C	T	8656952	2	4	63	1	0	0	0	0	0	0	0	1	256	755	27	1		1	ADAMTS10	19	8656952	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	485840	8656952	50472031	1617	46350											
MUC16	94025	broad.mit.edu	37	chr19	9069345	9069345	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgtgtgtccggatggcTgggagtggattgagacagag	20	4	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:9069345T>C	uc002mkp.2	-	3	18305	c.18101A>G	c.(18100-18102)CAG>CGG	p.Q6034R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6036	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCCGGATGGCTGGGAGTGGAT	0.438													C	9069345	T	C	9069345	3	2	63	1	0	0	0	0	1	0	0	0	9973	1580	55	3	25750	3	MUC16	19	9069345	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	412393	9069345	50059638	1618	46351											
OR7G3	390883	broad.mit.edu	37	chr19	9236991	9236992	+	Frame_Shift_Del	DEL	AG	AG	-													gtgtaagagaaaatgatcccAgagagaggaacaacacctaa							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:9236990_9236991CAG>C	uc010xkl.2	-	0	636_637	c.636_637CTG>G	c.(634-639)tctgggfs	p.S212fs		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AAAATGATCCCAGAGAGAGGAA	0.426													-	9236992	AG	-	9236991	7	5	63	1	0	1	0	1	0	0	0	0	11224	175	7	0	305	0	OR7G3	19	9236991	Frame_Shift_Del	DEL	AG	TCGA-BR-8078-01A-11D-2340-08	167646	9236991	49891992	1619	46352											
COL5A3	50509	broad.mit.edu	37	chr19	10077289	10077289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcagtgccgggaggacgcCgcagctgctccagctccaag	14	16	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:10077289C>T	uc002mmq.1	-	63	4678	c.4592G>A	c.(4591-4593)CGG>CAG	p.R1531Q		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1531	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			GGGAGGACGCCGCAGCTGCTC	0.726													T	10077289	C	T	10077289	3	4	63	1	0	0	0	0	1	0	0	0	3698	652	23	1	665	1	COL5A3	19	10077289	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	840298	10077289	49051694	1620	46353											
CDC37	11140	broad.mit.edu	37	chr19	10504054	10504054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcagcttggcacggccccGcacacgctccttgaaggctt	12	16	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:10504054G>A	uc002mof.1	-	6	906	c.790C>T	c.(790-792)CGG>TGG	p.R264W	CDC37_uc002moe.1_Missense_Mutation_p.R219W|CDC37_uc010dxf.1_Missense_Mutation_p.R101W|CDC37_uc002mog.1_Intron|CDC37_uc002moh.2_Missense_Mutation_p.R264W	NM_007065	NP_008996	Q16543	CDC37_HUMAN	cell division cycle 37 protein	264					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding				0			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		GCACGGCCCCGCACACGCTCC	0.657													A	10504054	G	A	10504054	3	1	63	1	0	0	0	0	1	0	0	0	3068	1086	38	1	358	1	CDC37	19	10504054	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	426765	10504054	48624929	1621	46354											
SMARCA4	6597	broad.mit.edu	37	chr19	11169473	11169473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccactgcaggagcgcattCgcaaccacaagtaccgcagc	10	15	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:11169473C>T	uc002mqf.3	+	32	4827	c.4543C>T	c.(4543-4545)CGC>TGC	p.R1515C	SMARCA4_uc010dxp.2_Missense_Mutation_p.R1515C|SMARCA4_uc010dxo.2_Missense_Mutation_p.R1547C|SMARCA4_uc010dxq.2_Missense_Mutation_p.R1482C|SMARCA4_uc010dxr.2_Missense_Mutation_p.R1481C|SMARCA4_uc002mqj.3_Missense_Mutation_p.R1485C|SMARCA4_uc010dxs.2_Missense_Mutation_p.R1484C|SMARCA4_uc002mqh.3_Missense_Mutation_p.R605C	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1515	Bromo.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGAGCGCATTCGCAACCACAA	0.647			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				T	11169473	C	T	11169473	3	4	63	1	0	0	0	0	1	0	0	0	14770	884	31	1	4774	1	SMARCA4	19	11169473	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	665419	11169473	47959510	1622	46355											
LDLR	3949	broad.mit.edu	37	chr19	11213391	11213391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgggggccgtgtcaaccGctgcattcctcagttctgga	13	12	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:11213391G>A	uc002mqk.3	+	3	410	c.242G>A	c.(241-243)CGC>CAC	p.R81H	LDLR_uc010xlk.1_Missense_Mutation_p.R81H|LDLR_uc010xll.1_Intron|LDLR_uc010xlm.1_Intron|LDLR_uc010xln.1_Missense_Mutation_p.R81H|LDLR_uc010xlo.1_Missense_Mutation_p.R81H	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	81	Extracellular (Potential).|LDL-receptor class A 2.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CGTGTCAACCGCTGCATTCCT	0.552													A	11213391	G	A	11213391	3	1	63	1	0	0	0	0	1	0	0	0	8704	1087	38	1	252	1	LDLR	19	11213391	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	43918	11213391	47915592	1623	46356											
RAB3D	9545	broad.mit.edu	37	chr19	11447929	11447929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacagtactgacgaaggcGggagtgaaggagtcgtccgc	15	11	0	2	rs151261006		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:11447929G>A	uc002mqy.2	-	2	385	c.147C>T	c.(145-147)CCC>CCT	p.P49P		NM_004283	NP_004274	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	49					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			ovary(2)	2						TGACGAAGGCGGGAGTGAAGG	0.527													A	11447929	G	A	11447929	2	1	63	1	0	0	0	0	0	0	0	1	12934	1103	39	1		1	RAB3D	19	11447929	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	234538	11447929	47681054	1624	46357											
LPPR2	64748	broad.mit.edu	37	chr19	11470601	11470601	+	Frame_Shift_Del	DEL	C	C	-													ggggcctgctgccgcttcagCcccccagtgcggaggctggt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:11470601delC	uc002mre.1	+	5	697	c.360delC	c.(358-360)AGCfs	p.S120fs	LPPR2_uc002mrf.1_Frame_Shift_Del_p.S95fs|LPPR2_uc010dxy.1_5'UTR	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN	lipid phosphate phosphatase-related protein type	120						integral to membrane	phosphatidate phosphatase activity			large_intestine(1)	1						GCCGCTTCAGCCCCCCAGTGC	0.627													-	11470601	C	-	11470601	7	5	63	1	0	1	0	1	0	0	0	0	8925	738	26	0	370	0	LPPR2	19	11470601	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	22672	11470601	47658382	1625	46358											
CNN1	1264	broad.mit.edu	37	chr19	11660584	11660584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccgcccacaaccaccacGcacacaactactacaattcc	3	20	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:11660584G>A	uc002msc.1	+	7	1032	c.868G>A	c.(868-870)GCA>ACA	p.A290T	CNN1_uc010xmb.1_Missense_Mutation_p.A240T|CNN1_uc010xmc.1_Missense_Mutation_p.A240T	NM_001299	NP_001290	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	290					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding				0						CAACCACCACGCACACAACTA	0.632													A	11660584	G	A	11660584	3	1	63	1	0	0	0	0	1	0	0	0	3609	1087	38	1	894	1	CNN1	19	11660584	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	189983	11660584	47468399	1626	46359											
FBXW9	84261	broad.mit.edu	37	chr19	12805508	12805508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaagttgacgttgcgatctCgggagcccgacagacagagt	13	10	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:12805508C>T	uc010dyx.2	-	3	548	c.548G>A	c.(547-549)CGA>CAA	p.R183Q	FBXW9_uc010xmp.1_RNA|FBXW9_uc002mum.1_Missense_Mutation_p.R193Q|FBXW9_uc002mun.1_Missense_Mutation_p.R30Q	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	F-box and WD-40 domain protein 9	193	WD 1.						protein binding			ovary(1)	1						GTTGCGATCTCGGGAGCCCGA	0.612													T	12805508	C	T	12805508	3	4	63	1	0	0	0	0	1	0	0	0	5771	884	31	1	830	1	FBXW9	19	12805508	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1144924	12805508	46323475	1627	46360											
HOOK2	29911	broad.mit.edu	37	chr19	12882099	12882099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccctgcattctcttgcGccaggctctgcttctcctct	8	17	4	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:12882099G>A	uc002muy.2	-	9	806	c.635C>T	c.(634-636)GCG>GTG	p.A212V	HOOK2_uc002muz.2_Missense_Mutation_p.A212V	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	212	Sufficient for interaction with microtubules.|Potential.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			ovary(1)|breast(1)|skin(1)	3						ATTCTCTTGCGCCAGGCTCTG	0.637													A	12882099	G	A	12882099	3	1	63	1	0	0	0	0	1	0	0	0	7283	1087	38	1	1584	1	HOOK2	19	12882099	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	76591	12882099	46246884	1628	46361											
FARSA	2193	broad.mit.edu	37	chr19	13039163	13039165	+	In_Frame_Del	DEL	GAA	GAA	-													ggggctgacccacctcgaagGaagaaggtgtcgtgctggtc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:13039162_13039164GGAA>G	uc002mvs.2	-	6	881_883	c.833_835TTCC>C	c.(832-837)ttcctt>tCtt	p.278_279FL>S	FARSA_uc010xmv.1_In_Frame_Del_p.247_248FL>S	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	278					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CCACCTCGAAGGAAGAAGGTGTC	0.571													-	13039165	GAA	-	13039163	7	5	63	1	0	1	0	1	0	0	0	0	5679	1165	41	0	720	0	FARSA	19	13039163	In_Frame_Del	DEL	GAA	TCGA-BR-8078-01A-11D-2340-08	157064	13039163	46089820	1629	46362											
CACNA1A	773	broad.mit.edu	37	chr19	13368350	13368350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcaaaggtggcgtccacCgaatgcttgaggaccctgca	11	12	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:13368350C>T	uc010dze.2	-	28	4643	c.4407G>A	c.(4405-4407)TCG>TCA	p.S1469S	CACNA1A_uc010xnd.1_Silent_p.S174S|CACNA1A_uc002mwx.3_Silent_p.S174S|CACNA1A_uc010dzc.2_Silent_p.S994S|CACNA1A_uc002mwy.3_Silent_p.S1468S|CACNA1A_uc010xne.1_Silent_p.S997S|CACNA1A_uc002mwv.3_5'UTR	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1469	III.|Extracellular (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGGCGTCCACCGAATGCTTGA	0.338													T	13368350	C	T	13368350	2	4	63	1	0	0	0	0	0	0	0	1	2538	639	23	1		1	CACNA1A	19	13368350	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	329187	13368350	45760633	1630	46363											
CACNA1A	773	broad.mit.edu	37	chr19	13565925	13565925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagacatcactcaccagcCgttcagacatcggggtcttg	9	12	4	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:13565925C>T	uc010dze.2	-	2	631	c.395G>A	c.(394-396)CGG>CAG	p.R132Q	CACNA1A_uc002mwy.3_Missense_Mutation_p.R132Q	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	132	Extracellular (Potential).|I.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ACTCACCAGCCGTTCAGACAT	0.502													T	13565925	C	T	13565925	3	4	63	1	0	0	0	0	1	0	0	0	2538	652	23	1	7423	1	CACNA1A	19	13565925	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	197575	13565925	45563058	1631	46364											
ZSWIM4	65249	broad.mit.edu	37	chr19	13941742	13941742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaattcctgggcaaggccCgggagaccttcctgctggcg	14	13	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:13941742C>T	uc002mxh.1	+	13	3037	c.2848C>T	c.(2848-2850)CGG>TGG	p.R950W	ZSWIM4_uc010xng.1_Missense_Mutation_p.R873W	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	950							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GGGCAAGGCCCGGGAGACCTT	0.592													T	13941742	C	T	13941742	3	4	63	1	0	0	0	0	1	0	0	0	18240	643	23	1	2898	1	ZSWIM4	19	13941742	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	375817	13941742	45187241	1632	46365											
C19orf57	79173	broad.mit.edu	37	chr19	14000612	14000612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcccagccacctccagagCcctctcttccagctcagtgg	10	18	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:14000612C>T	uc002mxl.1	-	6	1116	c.1057G>A	c.(1057-1059)GCT>ACT	p.A353T	C19orf57_uc002mxk.1_Missense_Mutation_p.A235T|C19orf57_uc002mxm.1_Intron	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	353					multicellular organismal development		protein binding			ovary(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ACCTCCAGAGCCCTCTCTTCC	0.642													T	14000612	C	T	14000612	3	4	63	1	0	0	0	0	1	0	0	0	1939	739	26	2	868	2	C19orf57	19	14000612	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	58870	14000612	45128371	1633	46366											
LPHN1	22859	broad.mit.edu	37	chr19	14269241	14269241	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgatgacctgtgagttcAccactagagaggcgccccca	11	14	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:14269241A>C	uc010xnn.1	-	13	2584	c.2288T>G	c.(2287-2289)GTG>GGG	p.V763G	LPHN1_uc010xno.1_Missense_Mutation_p.V758G|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	763	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						CTGTGAGTTCACCACTAGAGA	0.617													C	14269241	A	C	14269241	3	2	63	1	0	0	0	0	1	0	0	0	8915	159	6	5	2184	5	LPHN1	19	14269241	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	268629	14269241	44859742	1634	46367											
CD97	976	broad.mit.edu	37	chr19	14507207	14507207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaaagctacggcacctgcGtcaacacccttggcagctat	9	13	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:14507207G>A	uc002myl.2	+	5	523	c.400G>A	c.(400-402)GTC>ATC	p.V134I	CD97_uc002mym.2_Missense_Mutation_p.V134I|CD97_uc002myn.2_Intron	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	134	Extracellular (Potential).|EGF-like 3; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)|breast(1)	4						CGGCACCTGCGTCAACACCCT	0.572													A	14507207	G	A	14507207	3	1	63	1	0	0	0	0	1	0	0	0	3049	1145	40	1	418	1	CD97	19	14507207	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	237966	14507207	44621776	1635	46368											
OR7C1	26664	broad.mit.edu	37	chr19	14910543	14910543	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccacagagctgggggttcaTgatgaccgtatagtgcaggg	15	8	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:14910543T>C	uc010xnz.1	-	1	406	c.406A>G	c.(406-408)ATG>GTG	p.M136V		NM_198944	NP_945182	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C,	136	Cytoplasmic (Potential).				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						TGGGGGTTCATGATGACCGTA	0.532													C	14910543	T	C	14910543	3	2	63	1	0	0	0	0	1	0	0	0	11217	1464	51	3	558	3	OR7C1	19	14910543	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	403336	14910543	44218440	1636	46369											
SYDE1	85360	broad.mit.edu	37	chr19	15224500	15224501	+	Frame_Shift_Ins	INS	-	-	C													ggtcgaggaggccccgaaagINSccccccgagcaaccgctacg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:15224500_15224501insC	uc002nah.1	+	8	1965_1966	c.1934_1935insC	c.(1933-1935)AGCfs	p.S645fs	SYDE1_uc002nai.1_Frame_Shift_Ins_p.S578fs|SYDE1_uc002naj.1_Frame_Shift_Ins_p.S302fs	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1	645					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|pancreas(1)	2						GGCCCCGAAAGCCCCCCGAGCA	0.688													C	15224501	-	C	15224500	7	5	63	1	0	1	1	0	0	0	0	0	15432	971	34	0	1964	0	SYDE1	19	15224500	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	313957	15224500	43904483	1637	46370	180	2									
SYDE1	85360	broad.mit.edu	37	chr19	15224501	15224502	+	Frame_Shift_Ins	INS	-	-	C													gtcgaggaggccccgaaagcINScccccgagcaaccgctacgc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:15224500_15224501G>GC	uc002nah.1	+	7	1965_1966	c.1934_1935G>GC	c.(1933-1935)agcfs	p.S645fs	SYDE1_uc002nai.1_Frame_Shift_Ins_p.S578fs|SYDE1_uc002naj.1_Frame_Shift_Ins_p.S302fs	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 1 (C. elegans) (SYDE1), mRNA.	645					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						GGCCCCGAAAGCCCCCCGAGCA	0.688													C	15224502	-	C	15224501	7	5	63	1	0	1	1	0	0	0	0	0	15432	738	26	0	1965	0	SYDE1	19	15224501	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1	15224501	43904482	1638	46371	180	2									
CYP4F22	126410	broad.mit.edu	37	chr19	15636167	15636167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctgcccatcacagaccGcctgctgcacctcctggggc	11	17	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:15636167G>A	uc002nbh.3	+	3	187	c.20G>A	c.(19-21)CGC>CAC	p.R7H		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	7						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.R7H(1)		ovary(1)|pancreas(1)	2						ATCACAGACCGCCTGCTGCAC	0.612													A	15636167	G	A	15636167	3	1	63	1	0	0	0	0	1	0	0	0	4189	1087	38	1	22	1	CYP4F22	19	15636167	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	411666	15636167	43492816	1639	46372											
OR10H1	26539	broad.mit.edu	37	chr19	15918460	15918460	+	Frame_Shift_Del	DEL	G	G	-													catgagcacgttgtagcgcaGggggtggcagatggccacgt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:15918460delG	uc002nbq.2	-	1	477	c.388delC	c.(388-390)CTGfs	p.L130fs		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTGTAGCGCAGGGGGTGGCAG	0.642													-	15918460	G	-	15918460	7	5	63	1	0	1	0	1	0	0	0	0	10905	991	35	0	572	0	OR10H1	19	15918460	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	282293	15918460	43210523	1640	46373											
CYP4F11	57834	broad.mit.edu	37	chr19	16045144	16045144	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaggagccaggagcctccAaccagcagcagaagcagcca	12	15	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:16045144A>G	uc002nbu.2	-	2	111	c.75T>C	c.(73-75)GTT>GTC	p.V25V	CYP4F11_uc010eab.1_Silent_p.V25V|CYP4F11_uc002nbt.2_Silent_p.V25V	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	25	Helical; (Potential).				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1						AGGAGCCTCCAACCAGCAGCA	0.657													G	16045144	A	G	16045144	2	3	63	1	0	0	0	0	0	0	0	1	4186	117	5	3		3	CYP4F11	19	16045144	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	126684	16045144	43083839	1641	46374											
CHERP	10523	broad.mit.edu	37	chr19	16640564	16640565	+	In_Frame_Ins	INS	-	-	GCT													tccatctgcggcatctggagINSctgctgctgctgctgttgct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:16640563_16640564A>AGCT	uc002nei.1	-	7	1098_1099	c.1024_1025T>AGCT	c.(1024-1026)ctc>AGCTc	p.L342S	MED26_uc002nee.2_Intron	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	342	Gln-rich.				RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CGGCATCTGGAgctgctgctgc	0.673													GCT	16640565	-	GCT	16640564	7	5	63	1	0	1	1	0	0	0	0	0	3336	971	34	0	1766	0	CHERP	19	16640564	In_Frame_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	595420	16640564	42488419	1642	46375											
NWD1	284434	broad.mit.edu	37	chr19	16860457	16860457	+	Frame_Shift_Del	DEL	C	C	-													cgatgacagcaagcagcacaCccccctggtactctttgggc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:16860456_16860456AC>A	uc002neu.4	+	5	1425	c.1003_1003AC>A	c.(1003-1005)accfs	p.T335fs	NWD1_uc002net.4_Frame_Shift_Del_p.T200fs|NWD1_uc002nev.4_Frame_Shift_Del_p.T129fs|NWD1_uc021uqg.1_Frame_Shift_Del_p.T200fs	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	335	NACHT.						ATP binding	p.S335S(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAAGCAGCACACCCCCCTGGT	0.617													-	16860457	C	-	16860457	7	5	63	1	0	1	0	1	0	0	0	0	10781	507	18	0	605	0	NWD1	19	16860457	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	219893	16860457	42268526	1643	46376											
USHBP1	83878	broad.mit.edu	37	chr19	17373608	17373608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcgccaggctgcagccGctgcctccagggagctcaga	16	14	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:17373608G>A	uc002nfs.1	-	4	508	c.395C>T	c.(394-396)GCG>GTG	p.A132V	USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.A68V|USHBP1_uc010eam.1_Missense_Mutation_p.A60V	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	132							PDZ domain binding			ovary(1)	1						GGCTGCAGCCGCTGCCTCCAG	0.647													A	17373608	G	A	17373608	3	1	63	1	0	0	0	0	1	0	0	0	17034	1087	38	1	1756	1	USHBP1	19	17373608	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	513151	17373608	41755375	1644	46377											
SLC27A1	376497	broad.mit.edu	37	chr19	17612144	17612144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcctgctggaccccaacGcgatataccaggagctgcag	11	14	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:17612144G>A	uc002ngu.1	+	11	1749	c.1699G>A	c.(1699-1701)GCG>ACG	p.A567T	SLC27A1_uc010xpp.1_Missense_Mutation_p.A388T|SLC27A1_uc002ngv.1_Missense_Mutation_p.A169T	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	567	Cytoplasmic (Potential).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding				0						GGACCCCAACGCGATATACCA	0.672													A	17612144	G	A	17612144	3	1	63	1	0	0	0	0	1	0	0	0	14525	1087	38	1	1741	1	SLC27A1	19	17612144	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	238536	17612144	41516839	1645	46378											
UNC13A	23025	broad.mit.edu	37	chr19	17743609	17743609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcagggtactcaggcacgCggtccttgaaggcgggaagt	16	10	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:17743609C>T	uc002nhd.2	-	28	3674	c.3674G>A	c.(3673-3675)CGC>CAC	p.R1225H		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	1137	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						CTCAGGCACGCGGTCCTTGAA	0.478													T	17743609	C	T	17743609	3	4	63	1	0	0	0	0	1	0	0	0	16981	768	27	1	1765	1	UNC13A	19	17743609	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	131465	17743609	41385374	1646	46379											
MAP1S	55201	broad.mit.edu	37	chr19	17845108	17845108	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatccccactttcgactcGgtggccatgcatacgtggta	10	13	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:17845108G>A	uc002nhe.1	+	7	3060	c.3051G>A	c.(3049-3051)TCG>TCA	p.S1017S	MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Silent_p.S265S|MAP1S_uc010xpv.1_Silent_p.S991S	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	1017	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						CTTTCGACTCGGTGGCCATGC	0.662													A	17845108	G	A	17845108	2	1	63	1	0	0	0	0	0	0	0	1	9234	1103	39	1		1	MAP1S	19	17845108	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	101499	17845108	41283875	1647	46380											
PDE4C	5143	broad.mit.edu	37	chr19	18327613	18327613	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gctgaggttctggaagatatCgcagttctctgcctgcagca	12	10	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:18327613C>A	uc010xqc.1	-	12	1903	c.1423G>T	c.(1423-1425)GAT>TAT	p.D475Y	PDE4C_uc002nik.3_Missense_Mutation_p.D475Y|PDE4C_uc002nil.3_Missense_Mutation_p.D475Y|PDE4C_uc002nif.3_Missense_Mutation_p.D244Y|PDE4C_uc002nig.3_Missense_Mutation_p.D190Y|PDE4C_uc002nih.3_Missense_Mutation_p.D245Y|PDE4C_uc010ebk.2_Missense_Mutation_p.D369Y|PDE4C_uc002nii.3_Missense_Mutation_p.D443Y|PDE4C_uc010ebl.2_Missense_Mutation_p.D189Y|PDE4C_uc010xqd.1_Missense_Mutation_p.D244Y	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	phosphodiesterase 4C isoform PDE4C-2	475					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|skin(2)|central_nervous_system(1)	5					Dyphylline(DB00651)	TGGAAGATATCGCAGTTCTCT	0.602													A	18327613	C	A	18327613	3	1	63	1	0	0	0	0	1	0	0	0	11641	884	31	5	731	5	PDE4C	19	18327613	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	482505	18327613	40801370	1648	46381											
CRLF1	9244	broad.mit.edu	37	chr19	18709685	18709685	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgttcttggaccagcagcTgatgttgacgggtttctctg	12	9	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:18709685T>C	uc010ebt.1	-	3	618	c.424A>G	c.(424-426)AGC>GGC	p.S142G		NM_004750	NP_004741	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1 precursor	142	Fibronectin type-III 1.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(1)	1						GACCAGCAGCTGATGTTGACG	0.617													C	18709685	T	C	18709685	3	2	63	1	0	0	0	0	1	0	0	0	3886	1580	55	3	872	3	CRLF1	19	18709685	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	382072	18709685	40419298	1649	46382											
TM6SF2	53345	broad.mit.edu	37	chr19	19381886	19381886	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacaagctgtagaccgccacGaaaagcagacccaggattag	11	11	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:19381886G>A	uc002nmd.1	-	2	194	c.144C>T	c.(142-144)TTC>TTT	p.F48F	HAPLN4_uc002nmc.2_5'UTR	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	48	Helical; (Potential).					integral to membrane					0			Epithelial(12;0.0151)			AGACCGCCACGAAAAGCAGAC	0.602													A	19381886	G	A	19381886	2	1	63	1	0	0	0	0	0	0	0	1	15970	1049	37	1		1	TM6SF2	19	19381886	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	672201	19381886	39747097	1650	46383											
PBX4	80714	broad.mit.edu	37	chr19	19675819	19675819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatccacagccgttttacccGtgtaaatggtagcctcttct	7	12	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:19675819G>A	uc002nmy.2	-	6	849	c.848C>T	c.(847-849)ACG>ATG	p.T283M	PBX4_uc010xqz.1_RNA|PBX4_uc010xra.1_Missense_Mutation_p.T118M	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	283			T -> M (in a colorectal cancer sample; somatic mutation).				sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T283M(1)		large_intestine(1)|ovary(1)	2						CGTTTTACCCGTGTAAATGGT	0.537													A	19675819	G	A	19675819	3	1	63	1	0	0	0	0	1	0	0	0	11495	1145	40	1	288	1	PBX4	19	19675819	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	293933	19675819	39453164	1651	46384											
GMIP	51291	broad.mit.edu	37	chr19	19749285	19749285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctcagtccgtttggcggCgaggggctggcaagggttgg	18	8	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:19749285C>T	uc002nnd.2	-	8	661	c.544G>A	c.(544-546)GCC>ACC	p.A182T	GMIP_uc010xrb.1_Missense_Mutation_p.A182T|GMIP_uc010xrc.1_Missense_Mutation_p.A182T	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	182					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						CGTTTGGCGGCGAGGGGCTGG	0.592													T	19749285	C	T	19749285	3	4	63	1	0	0	0	0	1	0	0	0	6491	768	27	1	2424	1	GMIP	19	19749285	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	73466	19749285	39379698	1652	46385											
ZNF626	199777	broad.mit.edu	37	chr19	20808338	20808338	+	Frame_Shift_Del	DEL	T	T	-													tcatccacacttatacatccTttttttaactgtaaattgtc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:20808337_20808337CT>C	uc002npb.1	-	3	496	c.346_346AG>G	c.(346-348)ggafs	p.G116fs	ZNF626_uc002npc.1_Frame_Shift_Del_p.G40fs	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CTTATACATCCTTTTTTTAAC	0.348													-	20808338	T	-	20808338	7	5	63	1	0	1	0	1	0	0	0	0	18047	1606	56	0	1245	0	ZNF626	19	20808338	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	1059053	20808338	38320645	1653	46386											
ZNF708	7562	broad.mit.edu	37	chr19	21493361	21493361	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctatataaattctgctgTgctgtgtccaggcactgcca	8	11	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:21493361T>C	uc002npq.1	-	2	270	c.72A>G	c.(70-72)GCA>GCG	p.A24A	ZNF708_uc002npr.1_Intron|ZNF708_uc010ecs.1_Intron	NM_021269	NP_067092	P17019	ZN708_HUMAN	zinc finger protein 708	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(4)|skin(2)	6						AATTCTGCTGTGCTGTGTCCA	0.353													C	21493361	T	C	21493361	2	2	63	1	0	0	0	0	0	0	0	1	18109	1683	59	3		3	ZNF708	19	21493361	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	685023	21493361	37635622	1654	46387											
ZNF43	7594	broad.mit.edu	37	chr19	22002026	22002026	+	Splice_Site	DEL	A	A	-													cataaatgtcaatggtccctAaaaaaaacaacacatacaca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383													-	22002026	A	-	22002026	8	5	63	1	0	1	0	1	0	0	1	0	17900	377	13	0		0	ZNF43	19	22002026	Splice_Site	DEL	A	TCGA-BR-8078-01A-11D-2340-08	508665	22002026	37126957	1655	46388											
ZNF507	22847	broad.mit.edu	37	chr19	32845552	32845552	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accaaaacgcttcagacgatGacattttgaaagagttgcag	9	8	1	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:32845552G>A	uc002nte.2	+	3	2088	c.1816G>A	c.(1816-1818)GAC>AAC	p.D606N	ZNF507_uc002ntc.2_Missense_Mutation_p.D606N|ZNF507_uc010xrn.1_Missense_Mutation_p.D606N|ZNF507_uc002ntd.2_Missense_Mutation_p.D606N	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(110;0.162)					TTCAGACGATGACATTTTGAA	0.468													A	32845552	G	A	32845552	3	1	63	1	0	0	0	0	1	0	0	0	17950	1290	45	4	1818	4	ZNF507	19	32845552	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	10843526	32845552	26283431	1656	46389											
RHPN2	85415	broad.mit.edu	37	chr19	33482773	33482773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtgaacctgaacgggggCgttccctctcaaggtgaacc	13	11	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:33482773C>T	uc002nuf.2	-	13	1666	c.1600G>A	c.(1600-1602)GCC>ACC	p.A534T	RHPN2_uc010xro.1_Missense_Mutation_p.A383T|RHPN2_uc002nue.2_Missense_Mutation_p.A264T	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	534	PDZ.				signal transduction	perinuclear region of cytoplasm	protein binding			central_nervous_system(5)|ovary(1)	6	Esophageal squamous(110;0.137)					TGAACGGGGGCGTTCCCTCTC	0.522													T	33482773	C	T	33482773	3	4	63	1	0	0	0	0	1	0	0	0	13351	768	27	1	472	1	RHPN2	19	33482773	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	637221	33482773	25646210	1657	46390											
CHST8	64377	broad.mit.edu	37	chr19	34263827	34263827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggttcaaggaccggcactcGcaggaggcgcggaccacagc	15	14	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:34263827G>A	uc002nus.3	+	5	1639	c.1134G>A	c.(1132-1134)TCG>TCA	p.S378S	CHST8_uc002nut.3_Silent_p.S378S|CHST8_uc002nuu.2_Silent_p.S378S	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	378	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					ACCGGCACTCGCAGGAGGCGC	0.617													A	34263827	G	A	34263827	2	1	63	1	0	0	0	0	0	0	0	1	3410	1074	38	1		1	CHST8	19	34263827	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	781054	34263827	24865156	1658	46391											
PDCD2L	84306	broad.mit.edu	37	chr19	34916951	34916951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtgagaagagttgctggCccccaaatcatcagactccc	9	13	2	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:34916951C>T	uc002nvj.2	+	7	1036	c.1003C>T	c.(1003-1005)CCC>TCC	p.P335S	UBA2_uc010xrx.1_5'Flank|UBA2_uc002nvk.2_5'Flank|UBA2_uc002nvl.2_5'Flank	NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	335						cytoplasm				ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAGTTGCTGGCCCCCAAATCA	0.343													T	34916951	C	T	34916951	3	4	63	1	0	0	0	0	1	0	0	0	11620	739	26	2	1029	2	PDCD2L	19	34916951	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	653124	34916951	24212032	1659	46392											
FAM187B	148109	broad.mit.edu	37	chr19	35719208	35719208	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcgttctgcaggggccTctgacccaggtccttgtgtg	14	12	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:35719208T>G	uc002nyk.1	-	1	421	c.376A>C	c.(376-378)AGG>CGG	p.R126R		NM_152481	NP_689694	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	126	Extracellular (Potential).					integral to membrane				ovary(2)	2						TGCAGGGGCCTCTGACCCAGG	0.557													G	35719208	T	G	35719208	2	3	63	1	0	0	0	0	0	0	0	1	5513	1550	54	5		5	FAM187B	19	35719208	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	802257	35719208	23409775	1660	46393											
MAG	4099	broad.mit.edu	37	chr19	35801066	35801066	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccttccagggagcccgTgagtggcgtggacttggggt	17	11	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:35801066T>C	uc002nyy.1	+	8	1668	c.1519_splice	c.e8+2	p.H507_splice	MAG_uc002nyx.1_Splice_Site_p.H507_splice|MAG_uc010eds.1_Splice_Site_p.H482_splice|MAG_uc002nyz.1_Splice_Site_p.H507_splice	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a						blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGGGAGCCCGTGAGTGGCGTG	0.672													C	35801066	T	C	35801066	5	2	63	1	0	0	0	0	0	0	1	0	9162	1710	59	3	1543	3	MAG	19	35801066	Splice_Site	SNP	T	TCGA-BR-8078-01A-11D-2340-08	81858	35801066	23327917	1661	46394											
GAPDHS	26330	broad.mit.edu	37	chr19	36033264	36033265	+	Frame_Shift_Ins	INS	-	-	A													gagggctgtcgggagcccctINSacgtggtggagtccacaggc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:36033263_36033264C>CA	uc002oaf.1	+	4	608_609	c.492_493C>CA	c.(490-495)ccctacfs	p.P164fs	AX747325_uc002oag.3_Intron|AX747325_uc021usq.1_3'UTR	NM_014364	NP_055179	O14556	G3PT_HUMAN	Homo sapiens glyceraldehyde-3-phosphate dehydrogenase, spermatogenic (GAPDHS), mRNA.	164					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	NAD binding|glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	TCGGGAGCCCCTACGTGGTGGA	0.619													A	36033265	-	A	36033264	7	5	63	1	0	1	1	0	0	0	0	0	6237	1522	53	0	511	0	GAPDHS	19	36033264	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	232198	36033264	23095719	1662	46395											
RBM42	79171	broad.mit.edu	37	chr19	36128120	36128120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgatgacatcttggcacGcgccttcagccgcttcccat	9	15	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:36128120G>A	uc002oan.2	+	9	1272	c.1196G>A	c.(1195-1197)CGC>CAC	p.R399H	RBM42_uc010eef.2_Missense_Mutation_p.R345H|RBM42_uc002oao.2_Missense_Mutation_p.R377H|RBM42_uc002oap.2_Missense_Mutation_p.R369H|RBM42_uc002oaq.2_Missense_Mutation_p.R370H|RBM42_uc010eeg.2_Intron	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	399	Necessary for interaction with HNRNPK (By similarity).|RRM.					cytoplasm|nucleus	nucleotide binding|RNA binding				0	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ATCTTGGCACGCGCCTTCAGC	0.572													A	36128120	G	A	36128120	3	1	63	1	0	0	0	0	1	0	0	0	13136	1087	38	1	1230	1	RBM42	19	36128120	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	94856	36128120	23000863	1663	46396											
MLL4	9757	broad.mit.edu	37	chr19	36223002	36223002	+	Frame_Shift_Del	DEL	G	G	-													tcgccatcccggaggcccttGgggggtgtctcctttggccc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:36223002delG	uc010eei.2	+	28	5631	c.5631delG	c.(5629-5631)TTGfs	p.L1877fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1877					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGAGGCCCTTGGGGGGTGTCT	0.672													-	36223002	G	-	36223002	7	5	63	1	0	1	0	1	0	0	0	0	9623	1339	47	0	5737	0	MLL4	19	36223002	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	94882	36223002	22905981	1664	46397											
WDR62	284403	broad.mit.edu	37	chr19	36558217	36558217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattcttccagaaagacatcGtagtggcctccaacaaggta	8	10	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:36558217G>A	uc002odc.2	+	6	662	c.571G>A	c.(571-573)GTA>ATA	p.V191I	WDR62_uc002odd.2_Missense_Mutation_p.V191I|WDR62_uc002odb.2_Missense_Mutation_p.V191I	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	191	WD 2.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAAAGACATCGTAGTGGCCTC	0.512													A	36558217	G	A	36558217	3	1	63	1	0	0	0	0	1	0	0	0	17310	1145	40	1	593	1	WDR62	19	36558217	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	335215	36558217	22570766	1665	46398											
ZNF570	148268	broad.mit.edu	37	chr19	37974994	37974994	+	Frame_Shift_Del	DEL	T	T	-													aatcactcatgaagaaccccTttttgatgagagagaacaag							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:37974993_37974993CT>C	uc010efl.1	+	5	756	c.637_637CT>C	c.(637-639)cttfs	p.L213fs	ZNF570_uc002ogk.1_Frame_Shift_Del_p.L157fs|ZNF570_uc010xtr.1_5'UTR	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAAGAACCCCTTTTTGATGA	0.398													-	37974994	T	-	37974994	7	5	63	1	0	1	0	1	0	0	0	0	17999	1609	56	0	484	0	ZNF570	19	37974994	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	1416777	37974994	21153989	1666	46399											
ZNF607	84775	broad.mit.edu	37	chr19	38200708	38200708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtctatggccacatcccCgaatgttattgatccctgaa	8	11	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:38200708C>T	uc002ohc.1	-	3	621	c.25G>A	c.(25-27)GGG>AGG	p.G9R	ZNF607_uc002ohb.1_Missense_Mutation_p.G9R	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	9	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GCCACATCCCCGAATGTTATT	0.383													T	38200708	C	T	38200708	3	4	63	1	0	0	0	0	1	0	0	0	18030	652	23	1	2077	1	ZNF607	19	38200708	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	225714	38200708	20928275	1667	46400											
ZNF573	126231	broad.mit.edu	37	chr19	38230302	38230302	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaaagtaaaggttttcttAcactccttacattcataggg	6	8	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:38230302A>G	uc002ohe.2	-	4	1111	c.1089T>C	c.(1087-1089)TGT>TGC	p.C363C	ZNF573_uc010efs.2_Silent_p.C276C|ZNF573_uc002ohd.2_Silent_p.C361C|ZNF573_uc002ohf.2_Silent_p.C305C|ZNF573_uc002ohg.2_Silent_p.C275C	NM_152360	NP_689573	Q86YE8	ZN573_HUMAN	zinc finger protein 573	343	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			AGGTTTTCTTACACTCCTTAC	0.368													G	38230302	A	G	38230302	2	3	63	1	0	0	0	0	0	0	0	1	18002	389	14	3		3	ZNF573	19	38230302	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	29594	38230302	20898681	1668	46401											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572684	38572684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggtggccccggtcccccgGcagggccttcctcccccttc	12	21	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:38572684G>A	uc002ohk.2	+	3	988	c.479G>A	c.(478-480)GGC>GAC	p.G160D		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	160					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGTCCCCCGGCAGGGCCTTC	0.706													A	38572684	G	A	38572684	3	1	63	1	0	0	0	0	1	0	0	0	14331	1203	42	2	481	2	SIPA1L3	19	38572684	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	342382	38572684	20556299	1669	46402											
FAM98C	147965	broad.mit.edu	37	chr19	38899416	38899417	+	Frame_Shift_Ins	INS	-	-	G													atgggcaacgttccagaccgINSggggggccgcccaaatgagc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:38899415_38899416C>CG	uc002oin.1	+	7	962_963	c.943_944C>CG	c.(943-945)cggfs	p.R315fs	FAM98C_uc002oio.1_Frame_Shift_Ins_p.R233fs|FAM98C_uc010xtz.1_Frame_Shift_Ins_p.P181fs	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Homo sapiens family with sequence similarity 98, member C (FAM98C), mRNA.	315								p.R315L(2)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGTTCCAGACCGGGGGGGCCGC	0.564													G	38899417	-	G	38899416	7	5	63	1	0	1	1	0	0	0	0	0	5658	1116	39	0	974	0	FAM98C	19	38899416	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	326732	38899416	20229567	1670	46403											
ACTN4	81	broad.mit.edu	37	chr19	39218595	39218595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccccggcaggatcatggcGgggcgctggggcccgaggag	21	12	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:39218595G>A	uc002oja.1	+	19	2406	c.2347G>A	c.(2347-2349)GGG>AGG	p.G783R	ACTN4_uc002ojb.1_Missense_Mutation_p.G105R	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	783	1 (Potential).|EF-hand 1.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGATCATGGCGGGGCGCTGGG	0.692													A	39218595	G	A	39218595	3	1	63	1	0	0	0	0	1	0	0	0	207	1116	39	1	2421	1	ACTN4	19	39218595	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	319179	39218595	19910388	1671	46404											
HNRNPL	3191	broad.mit.edu	37	chr19	39330869	39330869	+	Frame_Shift_Del	DEL	G	G	-													cgggtggtgggggagggggtGgggggtgcccatactggggg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:39330869delG	uc010xul.1	-	8	1111	c.1100delC	c.(1099-1101)CCAfs	p.P367fs	HNRNPL_uc010ege.1_Frame_Shift_Del_p.P23fs|HNRNPL_uc002ojj.1_Frame_Shift_Del_p.P23fs|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojk.2_Frame_Shift_Del_p.P23fs|HNRNPL_uc002ojl.2_Frame_Shift_Del_p.P23fs|HNRNPL_uc010xum.1_Frame_Shift_Del_p.P234fs|HNRNPL_uc002ojp.1_Frame_Shift_Del_p.P23fs|HNRNPL_uc010xun.1_Frame_Shift_Del_p.H75fs	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	367	Pro-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGGAGGGGGTGGGGGGTGCCC	0.647													-	39330869	G	-	39330869	7	5	63	1	0	1	0	1	0	0	0	0	7270	1348	47	0	693	0	HNRNPL	19	39330869	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	112274	39330869	19798114	1672	46405											
PLEKHG2	64857	broad.mit.edu	37	chr19	39914556	39914556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcctaagcaagaccttcCgggcatccacgtttcagctg	9	13	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:39914556C>T	uc010xuz.1	+	19	3108	c.2783C>T	c.(2782-2784)CCG>CTG	p.P928L	PLEKHG2_uc010xuy.1_Missense_Mutation_p.P869L|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.P706L	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	928					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAAGACCTTCCGGGCATCCAC	0.582													T	39914556	C	T	39914556	3	4	63	1	0	0	0	0	1	0	0	0	12069	652	23	1	2853	1	PLEKHG2	19	39914556	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	583687	39914556	19214427	1673	46406											
PLEKHG2	64857	broad.mit.edu	37	chr19	39914847	39914847	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cactccagctttgcccaaggAgatttgttctgatttcacag	8	11	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:39914847A>C	uc010xuz.1	+	19	3399	c.3074A>C	c.(3073-3075)GAG>GCG	p.E1025A	PLEKHG2_uc010xuy.1_Missense_Mutation_p.E966A|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.E803A	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	1025					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTGCCCAAGGAGATTTGTTCT	0.522													C	39914847	A	C	39914847	3	2	63	1	0	0	0	0	1	0	0	0	12069	304	11	5	3144	5	PLEKHG2	19	39914847	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	291	39914847	19214136	1674	46407											
SUPT5H	6829	broad.mit.edu	37	chr19	39955492	39955492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgaagggctacatctacGtggaggcctacaagcagacc	12	10	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:39955492G>A	uc002olo.3	+	11	858	c.679G>A	c.(679-681)GTG>ATG	p.V227M	SUPT5H_uc002olp.3_Missense_Mutation_p.V227M|SUPT5H_uc002olq.3_Missense_Mutation_p.V223M|SUPT5H_uc002oln.3_Missense_Mutation_p.V227M|SUPT5H_uc002olr.3_Missense_Mutation_p.V227M|SUPT5H_uc002ols.1_5'Flank	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	227	Interaction with SUPT4H1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTACATCTACGTGGAGGCCTA	0.587													A	39955492	G	A	39955492	3	1	63	1	0	0	0	0	1	0	0	0	15396	1145	40	1	717	1	SUPT5H	19	39955492	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	40645	39955492	19173491	1675	46408											
TIMM50	92609	broad.mit.edu	37	chr19	39971319	39971319	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcccagttgtcgcccccaggGtcagccaggagactagtcag	12	14	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:39971319G>C	uc002olu.1	+	1	268	c.135G>C	c.(133-135)GGG>GGC	p.G45G	TIMM50_uc002olt.1_RNA	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50	21					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			ovary(1)	1	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCCCCCAGGGTCAGCCAGGA	0.647													C	39971319	G	C	39971319	2	2	63	1	0	0	0	0	0	0	0	1	15910	1248	44	5		5	TIMM50	19	39971319	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	15827	39971319	19157664	1676	46409											
DLL3	10683	broad.mit.edu	37	chr19	39998592	39998592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccccgctacacactgggcGcgctgggcagaggcagcacc	13	18	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:39998592G>A	uc002olx.2	+	8	1854	c.1796G>A	c.(1795-1797)CGC>CAC	p.R599H	DLL3_uc002olw.2_Intron	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	599	Cytoplasmic (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CACACTGGGCGCGCTGGGCAG	0.532													A	39998592	G	A	39998592	3	1	63	1	0	0	0	0	1	0	0	0	4567	1087	38	1	1826	1	DLL3	19	39998592	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	27273	39998592	19130391	1677	46410											
HIPK4	147746	broad.mit.edu	37	chr19	40889761	40889761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtcagggtgggggttgcGcttgaagaagtggtgggcct	20	6	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:40889761G>A	uc002onp.2	-	2	1036	c.751C>T	c.(751-753)CGC>TGC	p.R251C		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	251	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TGGGGGTTGCGCTTGAAGAAG	0.617													A	40889761	G	A	40889761	3	1	63	1	0	0	0	0	1	0	0	0	7119	1087	38	1	1111	1	HIPK4	19	40889761	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	891169	40889761	18239222	1678	46411											
SPTBN4	57731	broad.mit.edu	37	chr19	40993659	40993659	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtgggtgaactcgcacctCgcccgcgtgggctgccacat	13	14	0	1	rs148022541	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:40993659C>T	uc002ony.2	+	3	311	c.225C>T	c.(223-225)CTC>CTT	p.L75L	SPTBN4_uc002onx.2_Silent_p.L75L|SPTBN4_uc002onz.2_Silent_p.L75L	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	75	CH 1.|Actin-binding.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTCGCACCTCGCCCGCGTGG	0.642													T	40993659	C	T	40993659	2	4	63	1	0	0	0	0	0	0	0	1	15120	871	31	1		1	SPTBN4	19	40993659	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	103898	40993659	18135324	1679	46412											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41811718	41811718	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggccccctataccccaccGccaccccccactgcacagac	5	25	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:41811718G>A	uc002oqb.3	+	14	2689	c.2400G>A	c.(2398-2400)CCG>CCA	p.P800P	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Silent_p.P700P|HNRNPUL1_uc002oqa.3_Silent_p.P710P|HNRNPUL1_uc010ehm.2_Intron|HNRNPUL1_uc002oqc.3_Silent_p.P696P|HNRNPUL1_uc002oqe.3_Silent_p.P109P|HNRNPUL1_uc002oqd.3_Silent_p.P700P|HNRNPUL1_uc010ehn.2_Silent_p.P710P|HNRNPUL1_uc010eho.2_Silent_p.P700P|HNRNPUL1_uc010xvy.1_Silent_p.P700P|HNRNPUL1_uc010ehp.2_Intron|HNRNPUL1_uc002oqf.3_Silent_p.P334P	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	800	Tyr-rich.|Pro-rich.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	p.P800P(1)		central_nervous_system(1)|skin(1)	2						ATACCCCACCGCCACCCCCCA	0.627													A	41811718	G	A	41811718	2	1	63	1	0	0	0	0	0	0	0	1	7274	1074	38	1		1	HNRNPUL1	19	41811718	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	818059	41811718	17317265	1680	46413											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41812469	41812469	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtggcacaagtacacagtAgccagtgtgacccagaggct	14	10	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:41812469A>G	uc002oqb.3	+	15	2859	c.2570A>G	c.(2569-2571)TAG>TGG	p.*857W	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Nonstop_Mutation_p.*757W|HNRNPUL1_uc002oqa.3_Nonstop_Mutation_p.*767W|HNRNPUL1_uc010ehm.2_Nonstop_Mutation_p.*805W|HNRNPUL1_uc002oqc.3_Nonstop_Mutation_p.*753W|HNRNPUL1_uc002oqe.3_Nonstop_Mutation_p.*166W|HNRNPUL1_uc002oqd.3_Nonstop_Mutation_p.*757W|HNRNPUL1_uc010ehn.2_Nonstop_Mutation_p.*767W|HNRNPUL1_uc010eho.2_Nonstop_Mutation_p.*757W|HNRNPUL1_uc010xvy.1_Nonstop_Mutation_p.*757W|HNRNPUL1_uc010ehp.2_Nonstop_Mutation_p.*649W|HNRNPUL1_uc002oqf.3_Nonstop_Mutation_p.*391W	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	857					nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						AGTACACAGTAGCCAGTGTGA	0.652													G	41812469	A	G	41812469	4	3	63	1	0	0	0	0	0	0	0	0	7274	433	15	3	2628	3	HNRNPUL1	19	41812469	Nonstop_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	751	41812469	17316514	1681	46414											
BCKDHA	593	broad.mit.edu	37	chr19	41920016	41920016	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcacgtggggagtgccgcCgccctggacaacacggacct	14	15	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:41920016C>T	uc002oqq.2	+	4	467	c.438C>T	c.(436-438)GCC>GCT	p.A146A	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Silent_p.A180A|BCKDHA_uc002oqp.1_Silent_p.A38A|BCKDHA_uc002oqr.2_Silent_p.A146A|BCKDHA_uc010xvz.1_Silent_p.A124A	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	146					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0						GGAGTGCCGCCGCCCTGGACA	0.607													T	41920016	C	T	41920016	2	4	63	1	0	0	0	0	0	0	0	1	1359	639	23	1		1	BCKDHA	19	41920016	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	107547	41920016	17208967	1682	46415											
TMEM145	284339	broad.mit.edu	37	chr19	42828932	42828932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgggctcccgctgttccGtgacctccggccccctggcc	11	19	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:42828932G>A	uc002otk.1	+	15	1497	c.1445G>A	c.(1444-1446)CGT>CAT	p.R482H	MEGF8_uc002otl.3_5'Flank	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	transmembrane protein 145	482						integral to membrane					0		Prostate(69;0.00682)				CCGCTGTTCCGTGACCTCCGG	0.726													A	42828932	G	A	42828932	3	1	63	1	0	0	0	0	1	0	0	0	16056	1145	40	1	1503	1	TMEM145	19	42828932	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	908916	42828932	16300051	1683	46416											
MEGF8	1954	broad.mit.edu	37	chr19	42847703	42847703	+	Frame_Shift_Del	DEL	G	G	-													gcagcgtcctgttggtggctGgggggtacagcggccggccc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:42847703delG	uc002otl.3	+	9	2223	c.1588delG	c.(1588-1590)GGGfs	p.G530fs	MEGF8_uc002otm.3_Frame_Shift_Del_p.G71fs	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	530	Extracellular (Potential).|Kelch 6.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				GTTGGTGGCTGGGGGGTACAG	0.647													-	42847703	G	-	42847703	7	5	63	1	0	1	0	1	0	0	0	0	9463	1348	47	0	1622	0	MEGF8	19	42847703	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	18771	42847703	16281280	1684	46417											
LIPE	3991	broad.mit.edu	37	chr19	42914870	42914870	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgtacaccggcaaaaacGcctgacagccgctgggccgt	11	16	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:42914870G>A	uc002otr.2	-	2	1285	c.1008C>T	c.(1006-1008)GGC>GGT	p.G336G	uc010eif.1_Intron|LIPE_uc002ots.1_Silent_p.G81G	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	336					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				CGGCAAAAACGCCTGACAGCC	0.662													A	42914870	G	A	42914870	2	1	63	1	0	0	0	0	0	0	0	1	8821	1074	38	1		1	LIPE	19	42914870	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	67167	42914870	16214113	1685	46418											
ZNF404	342908	broad.mit.edu	37	chr19	44377220	44377220	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacattctttacattcatgTggcttctcaccagtatgaat	5	11	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:44377220T>C	uc002oxs.3	-	2	1146	c.1137A>G	c.(1135-1137)CCA>CCG	p.P379P		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	zinc finger protein 404	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TACATTCATGTGGCTTCTCAC	0.353													C	44377220	T	C	44377220	2	2	63	1	0	0	0	0	0	0	0	1	17883	1683	59	3		3	ZNF404	19	44377220	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1462350	44377220	14751763	1686	46419											
ZNF224	7767	broad.mit.edu	37	chr19	44611764	44611764	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtggagaaaaaccatTccaatgtgaagagtgtggga	12	7	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:44611764T>C	uc002oyh.1	+	6	1753	c.1451T>C	c.(1450-1452)TTC>TCC	p.F484S	uc002oyi.2_RNA	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	484	C2H2-type 12.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				GAAAAACCATTCCAATGTGAA	0.413													C	44611764	T	C	44611764	3	2	63	1	0	0	0	0	1	0	0	0	17775	1783	62	3	1465	3	ZNF224	19	44611764	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	234544	44611764	14517219	1687	46420											
TOMM40	10452	broad.mit.edu	37	chr19	45406424	45406424	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttggcctcaccatcggcTgagccctcctggcccccgcc	10	20	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:45406424T>C	uc002ozx.3	+	10	1185	c.1084T>C	c.(1084-1086)TGA>CGA	p.*362R	TOMM40_uc002ozy.3_Nonstop_Mutation_p.*362R|TOMM40_uc002paa.3_Nonstop_Mutation_p.*362R|TOMM40_uc002ozz.2_3'UTR|APOE_uc002pab.2_5'Flank	NM_006114	NP_006105	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40	362					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity				0	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		CACCATCGGCTGAGCCCTCCT	0.652													C	45406424	T	C	45406424	4	2	63	1	0	0	0	0	0	0	0	0	16355	1593	55	3	1118	3	TOMM40	19	45406424	Nonstop_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	794660	45406424	13722559	1688	46421											
MARK4	57787	broad.mit.edu	37	chr19	45762390	45762390	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccgcctgctgaggaccatTgggaagggcaactttgccaa	12	11	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:45762390T>C	uc002pbb.1	+	2	200	c.195T>C	c.(193-195)ATT>ATC	p.I65I	MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Silent_p.I65I			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;	65	ATP (By similarity).|Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGAGGACCATTGGGAAGGGCA	0.657													C	45762390	T	C	45762390	2	2	63	1	0	0	0	0	0	0	0	1	9315	1800	63	3		3	MARK4	19	45762390	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	355966	45762390	13366593	1689	46422											
FOSB	2354	broad.mit.edu	37	chr19	45976070	45976070	+	Frame_Shift_Del	DEL	C	C	-													tccagaccagccaagacgcaCcccccaacctgacggcttct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:45976070delC	uc002pbx.3	+	4	1409	c.817delC	c.(817-819)CCCfs	p.P273fs	ERCC1_uc002pbu.1_Intron|FOSB_uc010eke.2_Frame_Shift_Del_p.P198fs|FOSB_uc002pby.3_Frame_Shift_Del_p.P237fs|FOSB_uc010eka.1_Intron|FOSB_uc010ekb.1_Intron|FOSB_uc010ekc.1_Intron|FOSB_uc010ekf.2_Frame_Shift_Del_p.P234fs|FOSB_uc010ekd.1_Intron|FOSB_uc010ekg.2_Frame_Shift_Del_p.P130fs|FOSB_uc002pca.3_Frame_Shift_Del_p.P224fs	NM_006732	NP_006723	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	273					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|lung(1)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CCAAGACGCACCCCCCAACCT	0.602													-	45976070	C	-	45976070	7	5	63	1	0	1	0	1	0	0	0	0	5986	507	18	0	831	0	FOSB	19	45976070	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	213680	45976070	13152913	1690	46423											
GIPR	2696	broad.mit.edu	37	chr19	46180362	46180362	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctactacctgctcctcggCtggggtgagctccgatcccg	12	16	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:46180362C>A	uc002pcu.1	+	8	888	c.789C>A	c.(787-789)GGC>GGA	p.G263G	GIPR_uc002pct.1_Silent_p.G263G|GIPR_uc010xxp.1_Silent_p.G227G|GIPR_uc010xxq.1_RNA	NM_000164	NP_000155	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	263	Helical; Name=4; (Potential).				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TGCTCCTCGGCTGGGGTGAGC	0.687													A	46180362	C	A	46180362	2	1	63	1	0	0	0	0	0	0	0	1	6395	784	28	5		5	GIPR	19	46180362	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	204292	46180362	12948621	1691	46424											
FBXO46	23403	broad.mit.edu	37	chr19	46215278	46215278	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacttgagggcggccagCgcgcgcgtgggcaggaagct	19	11	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:46215278C>T	uc002pcy.2	-	2	1601	c.1476G>A	c.(1474-1476)GCG>GCA	p.A492A	FBXO46_uc002pcz.2_Silent_p.A492A	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	492	F-box.						protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGGCGGCCAGCGCGCGCGTGG	0.652													T	46215278	C	T	46215278	2	4	63	1	0	0	0	0	0	0	0	1	5755	755	27	1		1	FBXO46	19	46215278	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	34916	46215278	12913705	1692	46425											
SYMPK	8189	broad.mit.edu	37	chr19	46330880	46330880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgcccagataggtgcgaCtctgcagcaaaaggaaaggg	13	9	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:46330880C>T	uc002pdn.2	-	16	2314	c.2069G>A	c.(2068-2070)AGT>AAT	p.S690N	SYMPK_uc002pdo.1_Missense_Mutation_p.S690N|SYMPK_uc002pdp.1_Missense_Mutation_p.S690N	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	690					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ATAGGTGCGACTCTGCAGCAA	0.587													T	46330880	C	T	46330880	3	4	63	1	0	0	0	0	1	0	0	0	15436	579	20	4	1803	4	SYMPK	19	46330880	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	115602	46330880	12798103	1693	46426											
CCDC9	26093	broad.mit.edu	37	chr19	47768157	47768157	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcacggccgcaactggggggGccccgacttcgagcgggtgc	18	14	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:47768157G>C	uc010xym.1	+	7	881	c.674G>C	c.(673-675)GGC>GCC	p.G225A		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	225											0		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		AACTGGGGGGGCCCCGACTTC	0.721													C	47768157	G	C	47768157	3	2	63	1	0	0	0	0	1	0	0	0	2867	1203	42	5	696	5	CCDC9	19	47768157	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1437277	47768157	11360826	1694	46427											
DHX34	9704	broad.mit.edu	37	chr19	47880430	47880430	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagaccaacaagccgtaCctggtgaactgcgtccgcat	11	13	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:47880430C>T	uc010xyn.1	+	13	3014	c.2673C>T	c.(2671-2673)TAC>TAT	p.Y891Y	DHX34_uc010xyo.1_Silent_p.Y20Y	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	891						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ACAAGCCGTACCTGGTGAACT	0.627													T	47880430	C	T	47880430	2	4	63	1	0	0	0	0	0	0	0	1	4507	518	18	4		4	DHX34	19	47880430	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	112273	47880430	11248553	1695	46428											
ELSPBP1	64100	broad.mit.edu	37	chr19	48519210	48519210	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggcttataacagctgcatctCccagggcagcttcttaggca	10	12	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:48519210C>A	uc002pht.2	+	4	424	c.269C>A	c.(268-270)TCC>TAC	p.S90Y		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1 precursor	90	Fibronectin type-II 2.				single fertilization	extracellular region					0		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		AGCTGCATCTCCCAGGGCAGC	0.478													A	48519210	C	A	48519210	3	1	63	1	0	0	0	0	1	0	0	0	5083	855	30	5	279	5	ELSPBP1	19	48519210	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	638780	48519210	10609773	1696	46429											
PLA2G4C	8605	broad.mit.edu	37	chr19	48588317	48588317	+	Splice_Site	DEL	A	A	-													ctgttccccaaatactcaccAaaaataaggtgtccaatgct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:48588316_48588316CA>C	uc010xzd.2	-	10	1211	c.874_splice	c.e10+1	p.A292_splice	PLA2G4C_uc002phw.3_Splice_Site_p.A217_splice|PLA2G4C_uc010elr.3_Splice_Site_p.A282_splice|PLA2G4C_uc002phx.3_Splice_Site_p.A282_splice	NM_001159322	NP_001152794	Q9UP65	PA24C_HUMAN	Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA.	282	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AAATACTCACCAAAAATAAGG	0.393													-	48588317	A	-	48588317	8	5	63	1	0	1	0	1	0	0	1	0	12003	144	5	0	818	0	PLA2G4C	19	48588317	Splice_Site	DEL	A	TCGA-BR-8078-01A-11D-2340-08	69107	48588317	10540666	1697	46430											
LIG1	3978	broad.mit.edu	37	chr19	48660365	48660365	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagatgtggcaggacggggCggggagacctgtgagcagtc	21	7	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:48660365C>T	uc002pia.1	-	5	396	c.276G>A	c.(274-276)CCG>CCA	p.P92P	LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Silent_p.P92P|LIG1_uc010xzg.1_Silent_p.P62P|LIG1_uc010xzh.1_RNA	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	92					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CAGGACGGGGCGGGGAGACCT	0.562								NER					T	48660365	C	T	48660365	2	4	63	1	0	0	0	0	0	0	0	1	8781	755	27	1		1	LIG1	19	48660365	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	72048	48660365	10468618	1698	46431											
KCNA7	3743	broad.mit.edu	37	chr19	49573738	49573738	+	Frame_Shift_Del	DEL	A	A	-													ggaccacaccgatgaagaggAaaaagatgaggaggcccagc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:49573737_49573737GA>G	uc002pmg.3	-	1	1310	c.954_954TC>C	c.(952-954)ttcfs	p.F318fs		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7), mRNA.	318						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CGATGAAGAGGAAAAAGATGA	0.572													-	49573738	A	-	49573738	7	5	63	1	0	1	0	1	0	0	0	0	8008	246	9	0	421	0	KCNA7	19	49573738	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	913373	49573738	9555245	1699	46432											
HRC	3270	broad.mit.edu	37	chr19	49656780	49656780	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccagcccctcctcctccTcctcttcctcctcgctgtgg	5	23	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:49656780T>C	uc002pmv.2	-	1	1902	c.1715A>G	c.(1714-1716)GAG>GGG	p.E572G		NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	572					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		ctcctcctcctcctcttcctc	0.378													C	49656780	T	C	49656780	3	2	63	1	0	0	0	0	1	0	0	0	7352	1551	54	3	408	3	HRC	19	49656780	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	83042	49656780	9472203	1700	46433											
SLC17A7	57030	broad.mit.edu	37	chr19	49938077	49938077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacacagccatagtggacgCgggcagctgaggggatcagc	16	10	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:49938077C>T	uc002pnp.2	-	4	669	c.497G>A	c.(496-498)CGC>CAC	p.R166H	SLC17A7_uc002pnq.1_Missense_Mutation_p.R99H|SLC17A7_uc002pno.2_5'Flank	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	166	Extracellular (Potential).				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			ovary(1)|pancreas(1)|skin(1)	3		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		ATAGTGGACGCGGGCAGCTGA	0.542													T	49938077	C	T	49938077	3	4	63	1	0	0	0	0	1	0	0	0	14422	768	27	1	1221	1	SLC17A7	19	49938077	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	281297	49938077	9190906	1701	46434											
PRR12	57479	broad.mit.edu	37	chr19	50101104	50101104	+	Frame_Shift_Del	DEL	G	G	-													tgatgggccaccccggccacGggggaggccccggatccgcc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:50101104delG	uc002poo.3	+	4	3512	c.3512delG	c.(3511-3513)CGGfs	p.R1171fs		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	350	A.T hook 1.|Pro-rich.						DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCCGGCCACGGGGGAGGCCC	0.761													-	50101104	G	-	50101104	7	5	63	1	0	1	0	1	0	0	0	0	12584	1116	39	0	3526	0	PRR12	19	50101104	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	163027	50101104	9027879	1702	46435											
BCL2L12	83596	broad.mit.edu	37	chr19	50173481	50173481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaccctacagctggcctcGgaccccgccctgcgcagcaa	9	20	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:50173481G>A	uc002ppa.2	+	6	1372	c.690G>A	c.(688-690)TCG>TCA	p.S230S	BCL2L12_uc002ppb.2_Silent_p.S229S	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	BCL2-like 12 isoform 1	230					apoptosis					central_nervous_system(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		AGCTGGCCTCGGACCCCGCCC	0.697													A	50173481	G	A	50173481	2	1	63	1	0	0	0	0	0	0	0	1	1370	1103	39	1		1	BCL2L12	19	50173481	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	72377	50173481	8955502	1703	46436											
TSKS	60385	broad.mit.edu	37	chr19	50266482	50266482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctttggactgccagatcGtcttcaccaccacgctcgcc	7	17	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:50266482G>A	uc002ppm.2	-	1	34	c.23C>T	c.(22-24)ACG>ATG	p.T8M		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	8							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CTGCCAGATCGTCTTCACCAC	0.642													A	50266482	G	A	50266482	3	1	63	1	0	0	0	0	1	0	0	0	16623	1145	40	1	1799	1	TSKS	19	50266482	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	93001	50266482	8862501	1704	46437											
AKT1S1	84335	broad.mit.edu	37	chr19	50373232	50373233	+	Frame_Shift_Ins	INS	-	-	C													aagccgcggccgtggcaggtINSccccgaagacctgggtgtcc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:50373232_50373233insC	uc002pql.3	-	5	1438_1439	c.712_713insG	c.(712-714)GACfs	p.D238fs	PNKP_uc002pqg.2_5'Flank|PNKP_uc002pqh.2_5'Flank|PNKP_uc002pqi.2_5'Flank|PNKP_uc002pqj.2_5'Flank|PNKP_uc010enm.2_5'Flank|PNKP_uc002pqk.2_5'Flank|AKT1S1_uc002pqn.3_Frame_Shift_Ins_p.D238fs|AKT1S1_uc002pqm.3_Frame_Shift_Ins_p.D238fs	NM_032375	NP_115751	Q96B36	AKTS1_HUMAN	AKT1 substrate 1 (proline-rich)	238					negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression	cytosolic part	protein binding				0		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CCGTGGCAGGTCCCCGAAGACC	0.708													C	50373233	-	C	50373232	7	5	63	1	0	1	1	0	0	0	0	0	479	1667	58	0	61	0	AKT1S1	19	50373232	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	106750	50373232	8755751	1705	46438											
SIGLEC10	89790	broad.mit.edu	37	chr19	51918574	51918574	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctgggaggggctcagaacCtgtcccctctgggtccagct	15	13	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:51918574C>A	uc002pwo.2	-	7	1807	c.1191G>T	c.(1189-1191)CAG>CAT	p.Q397H	SIGLEC10_uc002pwp.2_Missense_Mutation_p.Q339H|SIGLEC10_uc002pwq.2_Missense_Mutation_p.Q339H|SIGLEC10_uc002pwr.2_Missense_Mutation_p.Q397H|SIGLEC10_uc010ycy.1_Missense_Mutation_p.Q307H|SIGLEC10_uc010ycz.1_Missense_Mutation_p.Q349H|SIGLEC10_uc010eow.2_Missense_Mutation_p.Q209H|SIGLEC10_uc002pws.1_Missense_Mutation_p.Q233H	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	397	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGCTCAGAACCTGTCCCCTCT	0.662													A	51918574	C	A	51918574	3	1	63	1	0	0	0	0	1	0	0	0	14306	680	24	5	922	5	SIGLEC10	19	51918574	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1545342	51918574	7210409	1706	46439											
ZNF350	59348	broad.mit.edu	37	chr19	52468751	52468751	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttccacattcattgcataTataaggtttctcacctgtat	4	9	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:52468751T>C	uc002pyd.2	-	5	1183	c.955A>G	c.(955-957)ATA>GTA	p.I319V	uc002pyb.2_Intron|uc002pyc.2_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	319	C2H2-type 5.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(1)	1		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TCATTGCATATATAAGGTTTC	0.423													C	52468751	T	C	52468751	3	2	63	1	0	0	0	0	1	0	0	0	17860	1406	49	3	647	3	ZNF350	19	52468751	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	550177	52468751	6660232	1707	46440											
ZNF610	162963	broad.mit.edu	37	chr19	52869533	52869533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaagcttttagagagtgttCgggacttactacccatcttg	9	9	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:52869533C>T	uc002pyx.3	+	6	1308	c.902C>T	c.(901-903)TCG>TTG	p.S301L	ZNF610_uc002pyy.3_Missense_Mutation_p.S301L|ZNF610_uc002pyz.3_Missense_Mutation_p.S258L|ZNF610_uc002pza.2_Missense_Mutation_p.S301L	NM_001161426	NP_001154898	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610 isoform a	301	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGAGAGTGTTCGGGACTTACT	0.393													T	52869533	C	T	52869533	3	4	63	1	0	0	0	0	1	0	0	0	18033	893	31	1	916	1	ZNF610	19	52869533	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	400782	52869533	6259450	1708	46441											
ZNF600	162966	broad.mit.edu	37	chr19	53270553	53270553	+	Frame_Shift_Del	DEL	T	T	-													tctctcatgtatacttcctgTttttgtgggagtagtgaaga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:53270552_53270552GT>G	uc002qab.4	-	2	743	c.457_457AC>C	c.(457-459)cagfs	p.Q153fs	ZNF600_uc021uyz.1_Frame_Shift_Del_p.Q153fs	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TATACTTCCTGTTTTTGTGGG	0.388													-	53270553	T	-	53270553	7	5	63	1	0	1	0	1	0	0	0	0	18027	1722	60	0	1716	0	ZNF600	19	53270553	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	401020	53270553	5858430	1709	46442											
ZNF347	84671	broad.mit.edu	37	chr19	53644231	53644231	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtttctctccagtatgaattCgctgatgccttgaaaggtat	9	8	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:53644231C>A	uc002qbb.1	-	5	1919	c.1850G>T	c.(1849-1851)CGA>CTA	p.R617L	ZNF347_uc010eql.1_Missense_Mutation_p.R618L|ZNF347_uc002qbc.1_Missense_Mutation_p.R618L	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	617	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		AGTATGAATTCGCTGATGCCT	0.393													A	53644231	C	A	53644231	3	1	63	1	0	0	0	0	1	0	0	0	17858	884	31	5	673	5	ZNF347	19	53644231	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	373678	53644231	5484752	1710	46443											
ZNF765	91661	broad.mit.edu	37	chr19	53911306	53911306	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgataatcaagttgtgaaGtctatccacgatgcttcctt	7	8	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:53911306G>A	uc010ydx.1	+	6	825	c.498G>A	c.(496-498)AAG>AAA	p.K166K	ZNF765_uc002qbm.2_Silent_p.K166K|ZNF765_uc002qbn.2_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00379)		AAGTTGTGAAGTCTATCCACG	0.378													A	53911306	G	A	53911306	2	1	63	1	0	0	0	0	0	0	0	1	18136	1020	36	4		4	ZNF765	19	53911306	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	267075	53911306	5217677	1711	46444											
NLRP12	91662	broad.mit.edu	37	chr19	54299272	54299272	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagccttggctgtgaggccaCagctatccagcctggtgaag	13	11	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:54299272C>A	uc002qch.3	-	9	3159	c.2939G>T	c.(2938-2940)TGT>TTT	p.C980F	NLRP12_uc010eqw.2_Missense_Mutation_p.C206F|NLRP12_uc002qci.3_Missense_Mutation_p.C923F|NLRP12_uc002qcj.3_Missense_Mutation_p.C981F|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	980	LRR 6.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGTGAGGCCACAGCTATCCAG	0.423													A	54299272	C	A	54299272	3	1	63	1	0	0	0	0	1	0	0	0	10474	478	17	5	254	5	NLRP12	19	54299272	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	387966	54299272	4829711	1712	46445											
NLRP12	91662	broad.mit.edu	37	chr19	54313572	54313572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggaggcgcggggccccCggcttgggttgcatcagact	18	12	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:54313572C>T	uc002qch.3	-	3	1561	c.1341G>A	c.(1339-1341)CCG>CCA	p.P447P	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.P447P|NLRP12_uc002qcj.3_Silent_p.P447P|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.P447P	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	447	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCGGGGCCCCCGGCTTGGGTT	0.617													T	54313572	C	T	54313572	2	4	63	1	0	0	0	0	0	0	0	1	10474	639	23	1		1	NLRP12	19	54313572	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	14300	54313572	4815411	1713	46446											
PRKCG	5582	broad.mit.edu	37	chr19	54394937	54394937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccgtttagttggcgaggCccgtaacctaattcctatgg	10	12	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:54394937C>T	uc002qcq.1	+	6	821	c.539C>T	c.(538-540)GCC>GTC	p.A180V	PRKCG_uc010eqz.1_Missense_Mutation_p.A180V|PRKCG_uc010yef.1_Missense_Mutation_p.A180V|PRKCG_uc010yeg.1_Missense_Mutation_p.A180V|PRKCG_uc010yeh.1_Missense_Mutation_p.A67V	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	180	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GTTGGCGAGGCCCGTAACCTA	0.542													T	54394937	C	T	54394937	3	4	63	1	0	0	0	0	1	0	0	0	12512	739	26	2	561	2	PRKCG	19	54394937	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	81365	54394937	4734046	1714	46447											
PRKCG	5582	broad.mit.edu	37	chr19	54401306	54401306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcggggcgagtccaggaCgcctgcacatctccgacttc	11	15	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:54401306C>T	uc002qcq.1	+	10	1315	c.1033C>T	c.(1033-1035)CGC>TGC	p.R345C	PRKCG_uc010yef.1_Silent_p.D315D|PRKCG_uc010yeg.1_Missense_Mutation_p.R345C|PRKCG_uc010yeh.1_Missense_Mutation_p.R232C	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	345					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GAGTCCAGGACGCCTGCACAT	0.493													T	54401306	C	T	54401306	3	4	63	1	0	0	0	0	1	0	0	0	12512	536	19	1	1071	1	PRKCG	19	54401306	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	6369	54401306	4727677	1715	46448											
TMC4	147798	broad.mit.edu	37	chr19	54667579	54667579	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggacggaaggtaattcaccCcaagcttcagcagtggcaac	11	11	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:54667579C>A	uc010erf.2	-	8	1304	c.1172G>T	c.(1171-1173)GGG>GTG	p.G391V	TMC4_uc002qdn.2_Missense_Mutation_p.W81C|TMC4_uc002qdo.2_Missense_Mutation_p.G385V	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4 isoform 1	391	Cytoplasmic (Potential).					integral to membrane				pancreas(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTAATTCACCCCAAGCTTCAG	0.577											OREG0003641	type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	54667579	C	A	54667579	3	1	63	1	0	0	0	0	1	0	0	0	15984	623	22	5	998	5	TMC4	19	54667579	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	266273	54667579	4461404	1716	46449											
LILRA4	23547	broad.mit.edu	37	chr19	54844919	54844919	+	Frame_Shift_Del	DEL	G	G	-													ttgcctcctggctgcaccttGgggggcttctctggctgtgc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:54844918_54844918TG>T	uc002qfj.3	-	7	1482	c.1425_1425CA>A	c.(1423-1425)ccafs	p.P475fs	LILRA4_uc002qfi.3_Frame_Shift_Del_p.P409fs	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	475						integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGCTGCACCTTGGGGGGCTTC	0.547													-	54844919	G	-	54844919	7	5	63	1	0	1	0	1	0	0	0	0	8787	1348	47	0	79	0	LILRA4	19	54844919	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	177340	54844919	4284064	1717	46450											
RDH13	112724	broad.mit.edu	37	chr19	55556595	55556595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtactttccggaaacatcCgccagttcctccgccacggc	8	16	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:55556595C>T	uc002qio.3	-	7	1028	c.843G>A	c.(841-843)GCG>GCA	p.A281A	RDH13_uc002qip.2_Silent_p.A210A|RDH13_uc010esr.1_RNA	NM_001145971	NP_001139443	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 isoform 1	281							binding|oxidoreductase activity			large_intestine(1)|ovary(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CGGAAACATCCGCCAGTTCCT	0.647													T	55556595	C	T	55556595	2	4	63	1	0	0	0	0	0	0	0	1	13192	639	23	1		1	RDH13	19	55556595	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	711676	55556595	3572388	1718	46451											
BRSK1	84446	broad.mit.edu	37	chr19	55812995	55812995	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagagcctcctgaggggaaTgatcgaagtggagcccgaaa	14	10	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:55812995T>C	uc002qkg.2	+	8	1071	c.794T>C	c.(793-795)ATG>ACG	p.M265T	BRSK1_uc002qkf.2_Missense_Mutation_p.M281T|BRSK1_uc002qkh.2_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	265	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CTGAGGGGAATGATCGAAGTG	0.587													C	55812995	T	C	55812995	3	2	63	1	0	0	0	0	1	0	0	0	1523	1464	51	3	824	3	BRSK1	19	55812995	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	256400	55812995	3315988	1719	46452											
TMEM190	147744	broad.mit.edu	37	chr19	55889366	55889366	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccaagcgccgggacgtgcTgcatatgcccggtttcctgg	15	13	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:55889366T>C	uc002qkt.1	+	5	347	c.329T>C	c.(328-330)CTG>CCG	p.L110P		NM_139172	NP_631911	Q8WZ59	TM190_HUMAN	transmembrane protein 190 precursor	110	Cytoplasmic (Potential).					integral to membrane					0	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CGGGACGTGCTGCATATGCCC	0.711													C	55889366	T	C	55889366	3	2	63	1	0	0	0	0	1	0	0	0	16111	1580	55	3	347	3	TMEM190	19	55889366	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	76371	55889366	3239617	1720	46453											
ISOC2	79763	broad.mit.edu	37	chr19	55966406	55966406	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacaagctgcagaatgagccCttcgctggtggagaggaagg	15	9	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:55966406C>A	uc002qlb.2	-	5	661	c.487G>T	c.(487-489)GGG>TGG	p.G163W	ISOC2_uc002qla.2_Missense_Mutation_p.G179W|ISOC2_uc002qlc.2_Missense_Mutation_p.G93W	NM_001136201	NP_001129673	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2 isoform 1	163					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			ovary(1)	1	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		AGAATGAGCCCTTCGCTGGTG	0.642											OREG0025682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	55966406	C	A	55966406	3	1	63	1	0	0	0	0	1	0	0	0	7863	681	24	5	138	5	ISOC2	19	55966406	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	77040	55966406	3162577	1721	46454											
FIZ1	84922	broad.mit.edu	37	chr19	56103953	56103953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgaggtagcactcgtggcGgaagaacttgccgcactcca	12	12	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:56103953G>A	uc002qli.3	-	3	1444	c.1354C>T	c.(1354-1356)CGC>TGC	p.R452C	FIZ1_uc002qlj.3_Missense_Mutation_p.R452C	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	452	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CACTCGTGGCGGAAGAACTTG	0.657													A	56103953	G	A	56103953	3	1	63	1	0	0	0	0	1	0	0	0	5900	1116	39	1	140	1	FIZ1	19	56103953	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	137547	56103953	3025030	1722	46455											
ZNF581	51545	broad.mit.edu	37	chr19	56156448	56156448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgggtgcactctggggaaCgcccgtttcagtgtccacac	13	14	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:56156448C>T	uc002qln.2	+	2	1227	c.511C>T	c.(511-513)CGC>TGC	p.R171C	ZNF581_uc002qlq.2_Missense_Mutation_p.R171C|CCDC106_uc002qlr.2_5'Flank	NM_016535	NP_057619	Q9P0T4	ZN581_HUMAN	zinc finger protein 581	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CTCTGGGGAACGCCCGTTTCA	0.692													T	56156448	C	T	56156448	3	4	63	1	0	0	0	0	1	0	0	0	18010	536	19	1	513	1	ZNF581	19	56156448	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	52495	56156448	2972535	1723	46456											
NLRP9	338321	broad.mit.edu	37	chr19	56235376	56235376	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatcttgcacattggatgtTtcagcgtctcacacaggtgt	9	10	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:56235376T>C	uc002qly.2	-	4	2157	c.2129A>G	c.(2128-2130)AAA>AGA	p.K710R		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	710						cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CATTGGATGTTTCAGCGTCTC	0.468													C	56235376	T	C	56235376	3	2	63	1	0	0	0	0	1	0	0	0	10484	1841	64	3	870	3	NLRP9	19	56235376	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	78928	56235376	2893607	1724	46457											
ZNF71	58491	broad.mit.edu	37	chr19	57133862	57133862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcatcgtgcaccagatcGtgcacaccggggagaagccc	11	16	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:57133862G>A	uc002qnm.3	+	3	1445	c.1207G>A	c.(1207-1209)GTG>ATG	p.V403M		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	403	C2H2-type 10.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCACCAGATCGTGCACACCGG	0.642													A	57133862	G	A	57133862	3	1	63	1	0	0	0	0	1	0	0	0	18111	1145	40	1	1209	1	ZNF71	19	57133862	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	898486	57133862	1995121	1725	46458											
ZNF543	125919	broad.mit.edu	37	chr19	57838089	57838089	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagacctctcccaaagctcCtatccaggtaggagccaaca	7	14	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:57838089C>A	uc002qoi.1	+	3	579	c.234C>A	c.(232-234)TCC>TCA	p.S78S		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCCAAAGCTCCTATCCAGGTA	0.493													A	57838089	C	A	57838089	2	1	63	1	0	0	0	0	0	0	0	1	17973	668	24	5		5	ZNF543	19	57838089	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	704227	57838089	1290894	1726	46459											
ZNF772	400720	broad.mit.edu	37	chr19	57984642	57984642	+	Nonstop_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacggaattatctcccatcCtaaggcctttctccagtgtg	7	12	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:57984642C>A	uc002qot.2	-	5	1731	c.1470G>T	c.(1468-1470)TAG>TAT	p.*490Y	ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Nonstop_Mutation_p.*449Y|ZNF772_uc010ygz.1_Nonstop_Mutation_p.*378Y|ZNF772_uc010yha.1_Nonstop_Mutation_p.*436Y|ZNF772_uc002qou.2_Nonstop_Mutation_p.*378Y	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	zinc finger protein 772 isoform 1	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		ATCTCCCATCCTAAGGCCTTT	0.478													A	57984642	C	A	57984642	4	1	63	1	0	0	0	0	0	0	0	0	18142	692	24	5	3	5	ZNF772	19	57984642	Nonstop_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	146553	57984642	1144341	1727	46460											
ZSCAN18	65982	broad.mit.edu	37	chr19	58600101	58600102	+	Frame_Shift_Ins	INS	-	-	G													cagctccaagggcctggctgINSgggctcgcgagctcgcctgg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:58600100_58600101T>TG	uc010yht.1	-	2	705_706	c.675_676A>CA	c.(673-678)cccagcfs	p.P225fs	ZSCAN18_uc002qrj.3_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc010yhs.1_Frame_Shift_Ins_p.P34fs|ZSCAN18_uc002qrh.2_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc002qri.2_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc002qrk.1_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc002qrl.2_Frame_Shift_Ins_p.P169fs	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	169					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGGGCCTGGCTGGGGCTCGCGA	0.649													G	58600102	-	G	58600101	7	5	63	1	0	1	1	0	0	0	0	0	18227	1335	47	0	1045	0	ZSCAN18	19	58600101	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	615459	58600101	528882	1728	46461											
ZNF132	7691	broad.mit.edu	37	chr19	58945229	58945229	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgctgaatcaggctggAgctgcggctgaaggatttcc	14	10	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:58945229A>G	uc002qst.3	-	3	1983	c.1582T>C	c.(1582-1584)TCC>CCC	p.S528P		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	528	C2H2-type 12.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		ATCAGGCTGGAGCTGCGGCTG	0.498													G	58945229	A	G	58945229	3	3	63	1	0	0	0	0	1	0	0	0	17719	304	11	3	542	3	ZNF132	19	58945229	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	345128	58945229	183754	1729	46462											
MZF1	7593	broad.mit.edu	37	chr19	59073500	59073500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctctggtggaagcggcggCcacagtcctggcaggcgaag	17	11	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:59073500C>T	uc002qto.2	-	6	2705	c.2144G>A	c.(2143-2145)GGC>GAC	p.G715D	LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Missense_Mutation_p.G715D	NM_198055	NP_932172	P28698	MZF1_HUMAN	zinc finger protein 42 isoform 2	715	C2H2-type 13.				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GAAGCGGCGGCCACAGTCCTG	0.642													T	59073500	C	T	59073500	3	4	63	1	0	0	0	0	1	0	0	0	10108	739	26	2	64	2	MZF1	19	59073500	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	128271	59073500	55483	1730	46463											
NRSN2	80023	broad.mit.edu	37	chr20	334250	334250	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgggcaatcttctgtgCagactatccagcccaagagg	10	12	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:334250C>T	uc002wdi.3	+	4	1124	c.586C>T	c.(586-588)CAG>TAG	p.Q196*	NRSN2_uc002wdj.2_RNA|NRSN2_uc002wdl.2_Intron	NM_024958	NP_079234	Q9GZP1	NRSN2_HUMAN	neurensin 2	196						integral to membrane|plasma membrane|transport vesicle					0		all_cancers(10;0.0834)				ATCTTCTGTGCAGACTATCCA	0.587													T	334250	C	T	334250	4	4	63	1	0	0	0	0	0	1	0	0	10663	711	25	2	592	2	NRSN2	20	334250	Nonsense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08		334250	62691270	1731	46464											
C20orf54	113278	broad.mit.edu	37	chr20	746209	746209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagatgatgggcacttcGgaaaggcagctgggccggaa	17	7	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:746209G>A	uc002wed.3	-	2	549	c.210C>T	c.(208-210)TCC>TCT	p.S70S	C20orf54_uc002wee.2_Silent_p.S70S	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	hypothetical protein LOC113278 precursor	70					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity			ovary(2)	2						TGGGCACTTCGGAAAGGCAGC	0.622													A	746209	G	A	746209	2	1	63	1	0	0	0	0	0	0	0	1	2114	1103	39	1		1	C20orf54	20	746209	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	411959	746209	62279311	1732	46465											
SIRPA	140885	broad.mit.edu	37	chr20	1918079	1918079	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcattcagaccagcccGcagcccgcgtcggaggacac	12	17	1	1	rs143207818	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:1918079G>A	uc002wfq.2	+	9	1740	c.1380G>A	c.(1378-1380)CCG>CCA	p.P460P	SIRPA_uc010zps.1_Silent_p.P440P|SIRPA_uc002wfr.2_Silent_p.P460P|SIRPA_uc002wfs.2_Silent_p.P460P|SIRPA_uc002wft.2_Silent_p.P464P	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN	signal-regulatory protein alpha precursor	460	Cytoplasmic (Potential).		P -> L.		blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			ovary(1)	1				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		AGACCAGCCCGCAGCCCGCGT	0.637													A	1918079	G	A	1918079	2	1	63	1	0	0	0	0	0	0	0	1	14332	1074	38	1		1	SIRPA	20	1918079	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1171870	1918079	61107441	1733	46466											
SNRPB	6628	broad.mit.edu	37	chr20	2443740	2443740	+	Frame_Shift_Del	DEL	G	G	-													ttatgggctcctcacctggaGggggtgctcctcggcccata							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:2443739_2443739AG>A	uc002wfz.1	-	4	718	c.555_555CT>T	c.(553-555)cctfs	p.P185fs	SNRPB_uc002wga.1_Frame_Shift_Del_p.P185fs|SNRPB_uc010zpv.2_Frame_Shift_Del_p.P106fs|SNRPB_uc002wgb.3_Frame_Shift_Del_p.P185fs|SNORD119_uc010gam.1_5'Flank	NM_198216	NP_937859	P14678	RSMB_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 1, mRNA.	185	Repeat-rich region.				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	RNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTCACCTGGAGGGGGTGCTC	0.567													-	2443740	G	-	2443740	7	5	63	1	0	1	0	1	0	0	0	0	14861	1000	35	0	195	0	SNRPB	20	2443740	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	525661	2443740	60581780	1734	46467											
VPS16	64601	broad.mit.edu	37	chr20	2843946	2843946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctaccaggctcgtgttgCggagactttaccccctggcc	12	14	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:2843946C>T	uc002whe.2	+	15	1426	c.1378C>T	c.(1378-1380)CGG>TGG	p.R460W	VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.R316W|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.R146W|VPS16_uc002whi.2_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 isoform 1	460					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				ovary(2)|pancreas(1)|skin(1)	4						GCTCGTGTTGCGGAGACTTTA	0.597													T	2843946	C	T	2843946	3	4	63	1	0	0	0	0	1	0	0	0	17190	759	27	1	1436	1	VPS16	20	2843946	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	400206	2843946	60181574	1735	46468											
SLC4A11	83959	broad.mit.edu	37	chr20	3215452	3215452	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggatactctcgccagacacGatggaggagttggcagtgtc	14	10	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:3215452G>A	uc002wig.2	-	2	273	c.225C>T	c.(223-225)ATC>ATT	p.I75I	SLC4A11_uc010zqe.1_Silent_p.I102I|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Silent_p.I59I	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	75	Cytoplasmic (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						CGCCAGACACGATGGAGGAGT	0.567													A	3215452	G	A	3215452	2	1	63	1	0	0	0	0	0	0	0	1	14652	1048	37	1		1	SLC4A11	20	3215452	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	371506	3215452	59810068	1736	46469											
C20orf194	25943	broad.mit.edu	37	chr20	3354734	3354734	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatccatcccctccaatgccCtcaagtgcaaaggcctgtac	6	16	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:3354734C>A	uc002wii.2	-	6	624	c.573G>T	c.(571-573)GAG>GAT	p.E191D	C20orf194_uc002wik.2_Translation_Start_Site|C20orf194_uc010gay.1_RNA	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	191											0						CTCCAATGCCCTCAAGTGCAA	0.393													A	3354734	C	A	3354734	3	1	63	1	0	0	0	0	1	0	0	0	2099	680	24	5	3088	5	C20orf194	20	3354734	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	139282	3354734	59670786	1737	46470											
SIGLEC1	6614	broad.mit.edu	37	chr20	3673238	3673238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcctggcaagagtaggcGcctgcatgagcccgcgtggc	17	12	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:3673238G>A	uc002wja.2	-	15	3960	c.3960C>T	c.(3958-3960)GGC>GGT	p.G1320G	SIGLEC1_uc002wjb.1_5'UTR|SIGLEC1_uc002wiz.3_Silent_p.G1320G	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1320	Ig-like C2-type 13.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						AAGAGTAGGCGCCTGCATGAG	0.652													A	3673238	G	A	3673238	2	1	63	1	0	0	0	0	0	0	0	1	14305	1074	38	1		1	SIGLEC1	20	3673238	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	318504	3673238	59352282	1738	46471											
SIGLEC1	6614	broad.mit.edu	37	chr20	3684491	3684491	+	Frame_Shift_Del	DEL	G	G	-													ctgaagatgtggaggctgatGgggggtgagaccaaagagcc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:3684490_3684490TG>T	uc002wja.3	-	3	955	c.955_955CA>A	c.(955-957)atcfs	p.I319fs	SIGLEC1_uc002wiz.4_Frame_Shift_Del_p.I319fs|SIGLEC1_uc002wjc.3_Frame_Shift_Del_p.I230fs	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	319	Ig-like C2-type 2.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.P318L(2)|p.P318P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TGGAGGCTGATGGGGGGTGAG	0.617													-	3684491	G	-	3684491	7	5	63	1	0	1	0	1	0	0	0	0	14305	1335	47	0	4247	0	SIGLEC1	20	3684491	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	11253	3684491	59341029	1739	46472											
HSPA12B	116835	broad.mit.edu	37	chr20	3719363	3719363	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctgcaggggctgtacatCggtaagaacccccaccattc	11	14	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:3719363C>T	uc002wjd.2	+	2	145	c.42C>T	c.(40-42)ATC>ATT	p.I14I	HSPA12B_uc010zqi.1_Silent_p.I14I|HSPA12B_uc002wje.2_5'UTR|HSPA12B_uc010zqj.1_5'UTR	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	14							ATP binding				0						GGCTGTACATCGGTAAGAACC	0.572													T	3719363	C	T	3719363	2	4	63	1	0	0	0	0	0	0	0	1	7405	898	31	1		1	HSPA12B	20	3719363	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	34872	3719363	59306157	1740	46473											
PROKR2	128674	broad.mit.edu	37	chr20	5282772	5282772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcactggacttgctcccccGctgggagggacgccagtgca	14	14	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:5282772G>A	uc010zqw.1	-	2	1069	c.1069C>T	c.(1069-1071)CGG>TGG	p.R357W	PROKR2_uc010zqx.1_Missense_Mutation_p.R357W|PROKR2_uc010zqy.1_Missense_Mutation_p.R357W	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	357	Cytoplasmic (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5						TTGCTCCCCCGCTGGGAGGGA	0.557										HNSCC(71;0.22)			A	5282772	G	A	5282772	3	1	63	1	0	0	0	0	1	0	0	0	12553	1086	38	1	88	1	PROKR2	20	5282772	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1563409	5282772	57742748	1741	46474											
FERMT1	55612	broad.mit.edu	37	chr20	6091015	6091015	+	Frame_Shift_Del	DEL	G	G	-													cgcaagtgcttctggggactGggggggttggctgaatgcga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:6091014_6091014TG>T	uc002wmr.3	-	4	1466	c.677_677CA>A	c.(676-678)cagfs	p.Q226fs	FERMT1_uc010gbt.3_Intron|FERMT1_uc002wms.3_Frame_Shift_Del_p.Q226fs|FERMT1_uc002wmt.3_5'Flank	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	226	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TTCTGGGGACTGGGGGGGTTG	0.527													-	6091015	G	-	6091015	7	5	63	1	0	1	0	1	0	0	0	0	5817	1357	47	0	1401	0	FERMT1	20	6091015	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	808243	6091015	56934505	1742	46475											
JAG1	182	broad.mit.edu	37	chr20	10626634	10626634	+	Frame_Shift_Del	DEL	C	C	-													ctcactggtttcacagtaggCcccctcccagccgtcactac							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:10626634delC	uc002wnw.2	-	15	2500	c.1984delG	c.(1984-1986)GCCfs	p.A662fs	JAG1_uc010gcd.1_Frame_Shift_Del_p.A220fs	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	662	Extracellular (Potential).|EGF-like 11; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						TCACAGTAGGCCCCCTCCCAG	0.502									Alagille_Syndrome				-	10626634	C	-	10626634	7	5	63	1	0	1	0	1	0	0	0	0	7934	739	26	0	1720	0	JAG1	20	10626634	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	4535619	10626634	52398886	1743	46476											
JAG1	182	broad.mit.edu	37	chr20	10653395	10653395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatgcggttgcggtcgttgCcgcggctggccttgaggttg	18	10	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:10653395C>T	uc002wnw.2	-	2	857	c.341G>A	c.(340-342)GGC>GAC	p.G114D		NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	114	Extracellular (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						GCGGTCGTTGCCGCGGCTGGC	0.687									Alagille_Syndrome				T	10653395	C	T	10653395	3	4	63	1	0	0	0	0	1	0	0	0	7934	739	26	2	3415	2	JAG1	20	10653395	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	26761	10653395	52372125	1744	46477											
ISM1	140862	broad.mit.edu	37	chr20	13260475	13260475	+	Frame_Shift_Del	DEL	C	C	-													gacgacagcaacttcctcaaCccccccagggggtgggacca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:13260474_13260474AC>A	uc010gce.1	+	2	578	c.572_572AC>A	c.(571-573)aacfs	p.N191fs	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	191						extracellular region		p.L190I(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						AACTTCCTCAACCCCCCCAGG	0.552													-	13260475	C	-	13260475	7	5	63	1	0	1	0	1	0	0	0	0	7860	506	18	0	583	0	ISM1	20	13260475	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	2607080	13260475	49765045	1745	46478											
ESF1	51575	broad.mit.edu	37	chr20	13763492	13763492	+	Frame_Shift_Del	DEL	T	T	-													gatttcttttttagtctgggTttttttcttctttattttct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:13763492delT	uc002woj.2	-	2	403	c.295delA	c.(295-297)ACCfs	p.T99fs	ESF1_uc002wok.1_Frame_Shift_Del_p.T99fs|C20orf7_uc002wol.1_5'Flank|C20orf7_uc002wom.2_5'Flank|C20orf7_uc002won.2_5'Flank|C20orf7_uc002woo.2_5'Flank	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	99	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1						TTAGTCTGGGTTTTTTTCTTC	0.323													-	13763492	T	-	13763492	7	5	63	1	0	1	0	1	0	0	0	0	5251	1725	60	0	2312	0	ESF1	20	13763492	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	503017	13763492	49262028	1746	46479											
MACROD2	140733	broad.mit.edu	37	chr20	14665540	14665540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttgctagctgaatgtcGtaacctgaatggctgtgata	11	7	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:14665540G>A	uc002wou.2	+	5	617	c.353G>A	c.(352-354)CGT>CAT	p.R118H	MACROD2_uc002wot.2_Missense_Mutation_p.R118H|MACROD2_uc002wox.2_RNA	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2 isoform 1	118	Macro.										0		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GCTGAATGTCGTAACCTGAAT	0.413													A	14665540	G	A	14665540	3	1	63	1	0	0	0	0	1	0	0	0	9146	1145	40	1	371	1	MACROD2	20	14665540	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	902048	14665540	48359980	1747	46480											
KIF16B	55614	broad.mit.edu	37	chr20	16488710	16488710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatccataagttcttctaCgtcaccataattctgtacta	4	12	4	0	rs144734414	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:16488710C>T	uc002wpg.1	-	7	750	c.592G>A	c.(592-594)GTA>ATA	p.V198I	KIF16B_uc010gch.1_Missense_Mutation_p.V198I|KIF16B_uc010gci.1_Missense_Mutation_p.V198I|KIF16B_uc010gcj.1_Missense_Mutation_p.V198I	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	198	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						AGTTCTTCTACGTCACCATAA	0.413													T	16488710	C	T	16488710	3	4	63	1	0	0	0	0	1	0	0	0	8278	536	19	1	3441	1	KIF16B	20	16488710	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1823170	16488710	46536810	1748	46481											
BFSP1	631	broad.mit.edu	37	chr20	17479597	17479597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctcctcaatctccttgCgcagtgtctcaatctgctcg	7	15	5	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:17479597C>T	uc002wpo.2	-	6	863	c.824G>A	c.(823-825)CGC>CAC	p.R275H	BFSP1_uc002wpp.2_Missense_Mutation_p.R150H|BFSP1_uc010zrn.1_Missense_Mutation_p.R136H|BFSP1_uc010zro.1_Missense_Mutation_p.R136H	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	filensin isoform 1	275	Rod.|Coil 2.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)	1						AATCTCCTTGCGCAGTGTCTC	0.522													T	17479597	C	T	17479597	3	4	63	1	0	0	0	0	1	0	0	0	1415	768	27	1	1185	1	BFSP1	20	17479597	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	990887	17479597	45545923	1749	46482											
RRBP1	6238	broad.mit.edu	37	chr20	17601408	17601410	+	In_Frame_Del	DEL	CTC	CTC	-													accttggccctccacacctgCtcctcctcctccacgctctt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:17601407_17601409GCTC>G	uc002wpw.1	-	16	2436_2438	c.2159_2161GAGC>C	c.(2158-2163)gagcag>gCag	p.720_721EQ>A	RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_In_Frame_Del_p.90_91EQ>A|RRBP1_uc002wpu.3_In_Frame_Del_p.494_495EQ>A|RRBP1_uc010gcl.1_In_Frame_Del_p.494_495EQ>A|RRBP1_uc002wpv.1_In_Frame_Del_p.720_721EQ>A|RRBP1_uc010gcm.1_In_Frame_Del_p.173_174EQ>A	NM_004587	NP_004578	Q9P2E9	RRBP1_HUMAN	Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA.	1153					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CTCCACACCTGCTCCTCCTCCTC	0.675													-	17601410	CTC	-	17601408	7	5	63	1	0	1	0	1	0	0	0	0	13678	796	28	0	809	0	RRBP1	20	17601408	In_Frame_Del	DEL	CTC	TCGA-BR-8078-01A-11D-2340-08	121811	17601408	45424112	1750	46483											
SEC23B	10483	broad.mit.edu	37	chr20	18523027	18523027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacccagagacgcatccgcGtgaccaccatcgcccgaaag	10	17	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:18523027G>A	uc002wqz.1	+	13	1935	c.1492G>A	c.(1492-1494)GTG>ATG	p.V498M	SEC23B_uc002wra.1_Missense_Mutation_p.V498M|SEC23B_uc002wrb.1_Missense_Mutation_p.V498M|SEC23B_uc010zsb.1_Missense_Mutation_p.V480M|SEC23B_uc002wrc.1_Missense_Mutation_p.V498M	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B	498					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1						ACGCATCCGCGTGACCACCAT	0.502													A	18523027	G	A	18523027	3	1	63	1	0	0	0	0	1	0	0	0	13992	1145	40	1	1538	1	SEC23B	20	18523027	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	921619	18523027	44502493	1751	46484											
C20orf26	26074	broad.mit.edu	37	chr20	20123534	20123534	+	Frame_Shift_Del	DEL	A	A	-													gagtagcagccaaggttcccAaaaaatagtcgaggagttgc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:20123534delA	uc002wru.2	+	9	969	c.893delA	c.(892-894)CAAfs	p.Q298fs	C20orf26_uc010gcw.1_Frame_Shift_Del_p.Q252fs|C20orf26_uc010zse.1_Frame_Shift_Del_p.Q298fs|C20orf26_uc010zsf.1_Frame_Shift_Del_p.Q298fs	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	298										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		CAAGGTTCCCAAAAAATAGTC	0.458													-	20123534	A	-	20123534	7	5	63	1	0	1	0	1	0	0	0	0	2106	130	5	0	923	0	C20orf26	20	20123534	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	1600507	20123534	42901986	1752	46485											
ACSS1	84532	broad.mit.edu	37	chr20	25038592	25038592	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctggctgtgctgctgctgcTgcaactgcgggagcgctgcc	15	14	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:25038592T>A	uc002wub.2	-	1	1025	c.147A>T	c.(145-147)GCA>GCT	p.A49A	ACSS1_uc002wuc.2_Silent_p.A49A|ACSS1_uc010gdc.2_Silent_p.A49A	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	49	Poly-Ala.				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTGCTGCTGCTGCAACTGCGG	0.771													A	25038592	T	A	25038592	2	1	63	1	0	0	0	0	0	0	0	1	188	1567	55	5		5	ACSS1	20	25038592	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	4915058	25038592	37986928	1753	46486											
REM1	28954	broad.mit.edu	37	chr20	30070226	30070226	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgcacacatcaggcagaccAtgtgcccatcatcctcgtgg	10	15	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:30070226A>G	uc002wwa.2	+	4	844	c.560A>G	c.(559-561)CAT>CGT	p.H187R		NM_014012	NP_054731	O75628	REM1_HUMAN	RAS-like GTP-binding protein REM	187					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			lung(2)|pancreas(2)	4	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CAGGCAGACCATGTGCCCATC	0.602													G	30070226	A	G	30070226	3	3	63	1	0	0	0	0	1	0	0	0	13222	217	8	3	570	3	REM1	20	30070226	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	5031634	30070226	32955294	1754	46487											
MYLK2	85366	broad.mit.edu	37	chr20	30407987	30407987	+	Frame_Shift_Del	DEL	C	C	-													gctgcagggaaagaccctggCcccccagacccaaagaaagc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:30407986_30407986GC>G	uc002wwq.2	+	2	212	c.110_110GC>G	c.(109-111)ggcfs	p.G37fs		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	37					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AAAGACCCTGGCCCCCCAGAC	0.592													-	30407987	C	-	30407987	7	5	63	1	0	1	0	1	0	0	0	0	10057	726	26	0	117	0	MYLK2	20	30407987	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	337761	30407987	32617533	1755	46488											
C20orf160	140706	broad.mit.edu	37	chr20	30602874	30602874	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacctggagaaagaggtcaaGgtgcgtgcaggatgagaagg	17	5	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:30602874G>T	uc002wxf.2	+	2	211	c.198G>T	c.(196-198)AAG>AAT	p.K66N		NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	hypothetical protein LOC140706	66										central_nervous_system(3)|ovary(1)	4						AAGAGGTCAAGGTGCGTGCAG	0.577													T	30602874	G	T	30602874	3	4	63	1	0	0	0	0	1	0	0	0	2093	1014	35	5	204	5	C20orf160	20	30602874	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	194887	30602874	32422646	1756	46489											
NCOA6	23054	broad.mit.edu	37	chr20	33346694	33346694	+	Frame_Shift_Del	DEL	G	G	-													aagatgacacatttccacccGggggtatcataacagtggca					rs143078359		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:33346693_33346693CG>C	uc002xav.3	-	6	3129	c.558_558CG>G	c.(556-558)ccgfs	p.P186fs	NCOA6_uc002xaw.3_Frame_Shift_Del_p.P186fs|NCOA6_uc021wcd.1_Frame_Shift_Del_p.P186fs|NCOA6_uc021wce.1_Frame_Shift_Del_p.P186fs|NCOA6_uc021wcf.1_Frame_Shift_Del_p.P186fs|NCOA6_uc010gew.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	186	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATTTCCACCCGGGGGTATCA	0.453													-	33346694	G	-	33346694	7	5	63	1	0	1	0	1	0	0	0	0	10233	1116	39	0	5674	0	NCOA6	20	33346694	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	2743820	33346694	29678826	1757	46490											
GDF5	8200	broad.mit.edu	37	chr20	34025552	34025552	+	Frame_Shift_Del	DEL	G	G	-													cctgaagacgttccgggccaGggggggcctctccttggcct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:34025552delG	uc002xck.1	-	1	476	c.157delC	c.(157-159)CTGfs	p.L53fs	GDF5_uc010gfc.1_Frame_Shift_Del_p.L53fs|GDF5_uc010zvc.1_Frame_Shift_Del_p.L53fs	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	53					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TTCCGGGCCAGGGGGGGCCTC	0.657													-	34025552	G	-	34025552	7	5	63	1	0	1	0	1	0	0	0	0	6316	991	35	0	1356	0	GDF5	20	34025552	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	678858	34025552	28999968	1758	46491											
SPAG4	6676	broad.mit.edu	37	chr20	34205465	34205465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcttccaggggctgagcGtgttgttatccctggcagga	14	10	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:34205465G>A	uc002xdb.1	+	3	550	c.433G>A	c.(433-435)GTG>ATG	p.V145M	SPAG4_uc010zvi.1_Missense_Mutation_p.V68M	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	145	Helical; (Potential).				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity				0	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GGGGCTGAGCGTGTTGTTATC	0.662													A	34205465	G	A	34205465	3	1	63	1	0	0	0	0	1	0	0	0	14980	1145	40	1	443	1	SPAG4	20	34205465	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	179913	34205465	28820055	1759	46492											
PHF20	51230	broad.mit.edu	37	chr20	34505541	34505541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgacttcgaggtggtccGctgcatctgtgaggtccagg	14	10	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:34505541G>A	uc002xek.1	+	13	2072	c.1961G>A	c.(1960-1962)CGC>CAC	p.R654H		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	654	PHD-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					GAGGTGGTCCGCTGCATCTGT	0.507													A	34505541	G	A	34505541	3	1	63	1	0	0	0	0	1	0	0	0	11831	1087	38	1	2007	1	PHF20	20	34505541	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	300076	34505541	28519979	1760	46493											
C20orf117	140710	broad.mit.edu	37	chr20	35444513	35444513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggtgcaccttcagctcGgtctcccgcgagtggggggc	15	13	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:35444513G>A	uc002xgd.1	-	5	945	c.618C>T	c.(616-618)ACC>ACT	p.T206T	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	206											0		Myeloproliferative disorder(115;0.00874)				CCTTCAGCTCGGTCTCCCGCG	0.662													A	35444513	G	A	35444513	2	1	63	1	0	0	0	0	0	0	0	1	2083	1103	39	1		1	C20orf117	20	35444513	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	938972	35444513	27581007	1761	46494											
RBL1	5933	broad.mit.edu	37	chr20	35635937	35635937	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggtccactggaacagtcAggtgtttttgtagcatcttc	10	9	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:35635937A>G	uc002xgi.2	-	20	2827	c.2748T>C	c.(2746-2748)CCT>CCC	p.P916P	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Silent_p.P916P	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	916	Domain B.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				TGGAACAGTCAGGTGTTTTTG	0.284													G	35635937	A	G	35635937	2	3	63	1	0	0	0	0	0	0	0	1	13109	175	7	3		3	RBL1	20	35635937	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	191424	35635937	27389583	1762	46495											
MAFB	9935	broad.mit.edu	37	chr20	39316588	39316588	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccctgaagccggagttggcGagtttctcgcacttgacctt	11	12	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:39316588G>A	uc002xji.2	-	1	1289	c.903C>T	c.(901-903)CTC>CTT	p.L301L		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	transcription factor MAFB	301					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		Myeloproliferative disorder(115;0.00878)				CGGAGTTGGCGAGTTTCTCGC	0.542			T	IGH@	MM								A	39316588	G	A	39316588	2	1	63	1	0	0	0	0	0	0	0	1	9158	1045	37	1		1	MAFB	20	39316588	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3680651	39316588	23708932	1763	46496											
TOP1	7150	broad.mit.edu	37	chr20	39750659	39750661	+	In_Frame_Del	DEL	AAG	AAG	-													cttctagggtagtagagtcaAagaagaaggctgttcagaga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:39750658_39750660AAAG>A	uc002xjl.3	+	19	2304_2306	c.2058_2060AAAG>A	c.(2056-2061)tcaaag>tcAg	p.K689del	BC035080_uc002xjn.1_Intron	NM_003286	NP_003277	P11387	TOP1_HUMAN	Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	689					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	TAGTAGAGTCAAAGAAGAAGGCT	0.468			T	NUP98	AML*								-	39750661	AAG	-	39750659	7	5	63	1	0	1	0	1	0	0	0	0	16360	15	1	0	2137	0	TOP1	20	39750659	In_Frame_Del	DEL	AAG	TCGA-BR-8078-01A-11D-2340-08	434071	39750659	23274861	1764	46497											
ACOT8	10005	broad.mit.edu	37	chr20	44472965	44472965	+	Frame_Shift_Del	DEL	G	G	-													cattctctgcagctggctcaGgggggatgggtttactggct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:44472965delG	uc002xqa.1	-	4	664	c.583delC	c.(583-585)CTGfs	p.L195fs	ACOT8_uc010zxe.1_Frame_Shift_Del_p.L195fs|ACOT8_uc002xqc.1_Frame_Shift_Del_p.L142fs|ACOT8_uc010zxf.1_Frame_Shift_Del_p.L75fs	NM_005469	NP_005460	O14734	ACOT8_HUMAN	peroxisomal acyl-CoA thioesterase 1 isoform a	195					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				AGCTGGCTCAGGGGGGATGGG	0.552													-	44472965	G	-	44472965	7	5	63	1	0	1	0	1	0	0	0	0	156	991	35	0	388	0	ACOT8	20	44472965	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	4722306	44472965	18552555	1765	46498											
ELMO2	63916	broad.mit.edu	37	chr20	45000493	45000493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcatcctctcagactggCgcagtcgtagaatctcagag	10	12	3	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:45000493C>T	uc002xrt.1	-	17	1742	c.1532G>A	c.(1531-1533)CGC>CAC	p.R511H	ELMO2_uc010zxq.1_Missense_Mutation_p.R243H|ELMO2_uc002xrs.1_Missense_Mutation_p.R258H|ELMO2_uc002xru.1_Missense_Mutation_p.R511H|ELMO2_uc010zxr.1_Missense_Mutation_p.R523H|ELMO2_uc010zxs.1_Missense_Mutation_p.R328H|ELMO2_uc002xrv.1_Missense_Mutation_p.R230H	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	511					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CTCAGACTGGCGCAGTCGTAG	0.542													T	45000493	C	T	45000493	3	4	63	1	0	0	0	0	1	0	0	0	5066	768	27	1	654	1	ELMO2	20	45000493	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	527528	45000493	18025027	1766	46499											
FAM65C	140876	broad.mit.edu	37	chr20	49218795	49218795	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctactcgaggctgtgccGctgtggaacagggagccctg	16	11	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:49218795G>A	uc002xvm.2	-	13	1779	c.1461C>T	c.(1459-1461)AGC>AGT	p.S487S	FAM65C_uc010zyt.1_Silent_p.S491S|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Silent_p.S487S	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	487										ovary(2)	2						AGGCTGTGCCGCTGTGGAACA	0.682													A	49218795	G	A	49218795	2	1	63	1	0	0	0	0	0	0	0	1	5601	1078	38	1		1	FAM65C	20	49218795	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	4218302	49218795	13806725	1767	46500											
KCNG1	3755	broad.mit.edu	37	chr20	49626482	49626482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgcagcttgcccgcgcGcaggaaggtcaggatagtgc	15	13	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:49626482G>A	uc002xwa.3	-	2	689	c.394C>T	c.(394-396)CGC>TGC	p.R132C	KCNG1_uc002xwb.2_Missense_Mutation_p.R132C	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	132	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						TTGCCCGCGCGCAGGAAGGTC	0.647													A	49626482	G	A	49626482	3	1	63	1	0	0	0	0	1	0	0	0	8027	1087	38	1	1155	1	KCNG1	20	49626482	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	407687	49626482	13399038	1768	46501											
ZFP64	55734	broad.mit.edu	37	chr20	50701514	50701514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcacgcgcagggcggccGcgctggagcaggagtagctg	19	11	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:50701514G>A	uc002xwk.2	-	9	1869	c.1520C>T	c.(1519-1521)GCG>GTG	p.A507V	ZFP64_uc002xwj.2_Missense_Mutation_p.A288V	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CAGGGCGGCCGCGCTGGAGCA	0.667													A	50701514	G	A	50701514	3	1	63	1	0	0	0	0	1	0	0	0	17649	1087	38	1	421	1	ZFP64	20	50701514	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1075032	50701514	12324006	1769	46502											
RAE1	8480	broad.mit.edu	37	chr20	55948793	55948793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcctcaggacatttatgCggtacgtttttagacacttt	8	9	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:55948793C>T	uc002xyg.2	+	10	1165	c.824C>T	c.(823-825)GCG>GTG	p.A275V	RAE1_uc010gis.1_Missense_Mutation_p.A228V|RAE1_uc010git.1_Missense_Mutation_p.A275V|RAE1_uc002xyh.2_Missense_Mutation_p.A275V|RAE1_uc002xyi.2_Missense_Mutation_p.A275V	NM_003610	NP_003601	P78406	RAE1L_HUMAN	RAE1 (RNA export 1, S.pombe) homolog	275	WD 4.				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding				0	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			GACATTTATGCGGTACGTTTT	0.423													T	55948793	C	T	55948793	3	4	63	1	0	0	0	0	1	0	0	0	12998	782	27	1	858	1	RAE1	20	55948793	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	5247279	55948793	7076727	1770	46503											
CTCFL	140690	broad.mit.edu	37	chr20	56099047	56099047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtacttctcgctctcctccGagggggccagcaccagctcc	10	17	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:56099047G>A	uc010gix.1	-	1	877	c.215C>T	c.(214-216)TCG>TTG	p.S72L	CTCFL_uc010giw.1_Missense_Mutation_p.S72L|CTCFL_uc002xym.2_Missense_Mutation_p.S72L|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.S72L|CTCFL_uc010gjb.1_Missense_Mutation_p.S72L|CTCFL_uc010gjc.1_Missense_Mutation_p.S72L|CTCFL_uc010gjd.1_Missense_Mutation_p.S72L|CTCFL_uc010gje.2_Missense_Mutation_p.S72L|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.S72L|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Missense_Mutation_p.S72L|CTCFL_uc010gjk.1_Missense_Mutation_p.S72L|CTCFL_uc010gjl.1_Missense_Mutation_p.S72L	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	72					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GCTCTCCTCCGAGGGGGCCAG	0.582													A	56099047	G	A	56099047	3	1	63	1	0	0	0	0	1	0	0	0	4001	1059	37	1	1816	1	CTCFL	20	56099047	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	150254	56099047	6926473	1771	46504											
PCK1	5105	broad.mit.edu	37	chr20	56138664	56138664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgagaagaagtacctggCggccgcatttcccagcgcct	14	12	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:56138664C>T	uc002xyn.3	+	6	1005	c.842C>T	c.(841-843)GCG>GTG	p.A281V	PCK1_uc010zzm.1_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	281					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			skin(1)	1	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AAGTACCTGGCGGCCGCATTT	0.557													T	56138664	C	T	56138664	3	4	63	1	0	0	0	0	1	0	0	0	11581	768	27	1	860	1	PCK1	20	56138664	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	39617	56138664	6886856	1772	46505											
ZNF831	128611	broad.mit.edu	37	chr20	57766302	57766302	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctccagccccgcgccccGctagtgacgggcagcctaga	13	18	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:57766302G>A	uc002yan.2	+	1	228	c.228G>A	c.(226-228)CCG>CCA	p.P76P		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	76	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CCCGCGCCCCGCTAGTGACGG	0.716													A	57766302	G	A	57766302	2	1	63	1	0	0	0	0	0	0	0	1	18182	1074	38	1		1	ZNF831	20	57766302	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1627638	57766302	5259218	1773	46506											
OGFR	11054	broad.mit.edu	37	chr20	61444236	61444236	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccctcagccagggcagCctcaggacggggacccagga	15	14	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:61444236C>T	uc002ydj.2	+	7	1304	c.1269C>T	c.(1267-1269)AGC>AGT	p.S423S	OGFR_uc002ydk.2_Silent_p.S406S|OGFR_uc002ydl.2_Silent_p.S371S|uc011aam.1_3'UTR	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	423					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity				0	Breast(26;3.65e-08)					GCCAGGGCAGCCTCAGGACGG	0.692													T	61444236	C	T	61444236	2	4	63	1	0	0	0	0	0	0	0	1	10843	738	26	2		2	OGFR	20	61444236	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3677934	61444236	1581284	1774	46507											
BHLHE23	128408	broad.mit.edu	37	chr20	61637536	61637536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccgaagggcgtcaagggCgcggcgtttacgggcgcggc	20	11	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:61637536C>T	uc002yeb.2	-	1	852	c.543G>A	c.(541-543)GCG>GCA	p.A181A		NM_080606	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix domain containing, class	181					transcription, DNA-dependent	nucleus	DNA binding				0						GCGTCAAGGGCGCGGCGTTTA	0.711													T	61637536	C	T	61637536	2	4	63	1	0	0	0	0	0	0	0	1	1422	755	27	1		1	BHLHE23	20	61637536	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	193300	61637536	1387984	1775	46508											
PRIC285	85441	broad.mit.edu	37	chr20	62195762	62195762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggccggcagctcacggccGgcacccgggtgctgcctgat	16	16	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:62195762G>A	uc002yfm.2	-	9	5305	c.4413C>T	c.(4411-4413)GCC>GCT	p.A1471A	PRIC285_uc002yfl.1_Silent_p.A902A	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1471					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GCTCACGGCCGGCACCCGGGT	0.711													A	62195762	G	A	62195762	2	1	63	1	0	0	0	0	0	0	0	1	12485	1103	39	1		1	PRIC285	20	62195762	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	558226	62195762	829758	1776	46509											
RTEL1	51750	broad.mit.edu	37	chr20	62326158	62326158	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggaagcagggccagcaCgccgtgagcgcctacctggc	16	14	0	1	rs146247083		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:62326158C>T	uc002yfu.1	+	32	3517	c.3174C>T	c.(3172-3174)CAC>CAT	p.H1058H	RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Silent_p.H1058H|RTEL1_uc011abd.1_Silent_p.H1082H|RTEL1_uc011abe.1_Silent_p.H835H|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Silent_p.H303H|TNFRSF6B_uc002yfy.2_5'Flank|TNFRSF6B_uc002yfz.2_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	1058					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding				0	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			AGGGCCAGCACGCCGTGAGCG	0.667													T	62326158	C	T	62326158	2	4	63	1	0	0	0	0	0	0	0	1	13720	535	19	1		1	RTEL1	20	62326158	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	130396	62326158	699362	1777	46510											
PCMTD2	55251	broad.mit.edu	37	chr20	62904614	62904614	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccaggacttggctcgcatCgccatccggggcaccattaa	10	15	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:62904614C>T	uc002yil.3	+	6	947	c.747C>T	c.(745-747)ATC>ATT	p.I249I	PCMTD2_uc002yim.3_Silent_p.I222I	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	249						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGGCTCGCATCGCCATCCGGG	0.512													T	62904614	C	T	62904614	2	4	63	1	0	0	0	0	0	0	0	1	11587	874	31	1		1	PCMTD2	20	62904614	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	578456	62904614	120906	1778	46511											
TMPRSS15	5651	broad.mit.edu	37	chr21	19713805	19713805	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgcaaatcccatatgttaGgctaatgtcatccaacgcaa	6	10	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:19713805G>T	uc002ykw.2	-	13	1520	c.1489C>A	c.(1489-1491)CTA>ATA	p.L497I		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	497	Extracellular (Potential).|MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						CCATATGTTAGGCTAATGTCA	0.388													T	19713805	G	T	19713805	3	4	63	1	0	0	0	0	1	0	0	0	16243	991	35	5	1622	5	TMPRSS15	21	19713805	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08		19713805	28416090	1779	46512											
NCAM2	4685	broad.mit.edu	37	chr21	22804468	22804468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgaagatcatagagctGtcgcagaccacggccaaggt	14	9	1	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:22804468G>A	uc002yld.1	+	12	1770	c.1521G>A	c.(1519-1521)CTG>CTA	p.L507L	NCAM2_uc011acb.1_Silent_p.L365L	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	507	Fibronectin type-III 1.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TCATAGAGCTGTCGCAGACCA	0.448													A	22804468	G	A	22804468	2	1	63	1	0	0	0	0	0	0	0	1	10203	1364	48	4		4	NCAM2	21	22804468	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3090663	22804468	25325427	1780	46513											
NCAM2	4685	broad.mit.edu	37	chr21	22804561	22804561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggatgtcaaagaagtagcGtcagaaatctggaaaattgt	12	4	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:22804561G>A	uc002yld.1	+	12	1863	c.1614G>A	c.(1612-1614)GCG>GCA	p.A538A	NCAM2_uc011acb.1_Silent_p.A396A	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	538	Fibronectin type-III 1.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAGAAGTAGCGTCAGAAATCT	0.433													A	22804561	G	A	22804561	2	1	63	1	0	0	0	0	0	0	0	1	10203	1132	40	1		1	NCAM2	21	22804561	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	93	22804561	25325334	1781	46514											
ADAMTS5	11096	broad.mit.edu	37	chr21	28296840	28296840	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtttttctttttcagggcTaaataggcagtgaatctagt	9	7	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:28296840T>C	uc002ymg.2	-	8	3054	c.2325A>G	c.(2323-2325)TTA>TTG	p.L775L		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	775	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						TTTTCAGGGCTAAATAGGCAG	0.418													C	28296840	T	C	28296840	2	2	63	1	0	0	0	0	0	0	0	1	269	1519	53	3		3	ADAMTS5	21	28296840	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	5492279	28296840	19833055	1782	46515											
ADAMTS5	11096	broad.mit.edu	37	chr21	28327159	28327159	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccaacgtctgccattcccAgggtgtcacatgaatgatgc	9	13	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:28327159A>G	uc002ymg.2	-	2	1865	c.1136T>C	c.(1135-1137)CTG>CCG	p.L379P		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	379	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						TGCCATTCCCAGGGTGTCACA	0.498													G	28327159	A	G	28327159	3	3	63	1	0	0	0	0	1	0	0	0	269	188	7	3	1684	3	ADAMTS5	21	28327159	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	30319	28327159	19802736	1783	46516											
ADAMTS5	11096	broad.mit.edu	37	chr21	28338050	28338050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgctgtgcgccggagcatGctcgtgggcctccggtgtgg	18	11	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:28338050G>A	uc002ymg.2	-	1	1390	c.661C>T	c.(661-663)CAT>TAT	p.H221Y		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	221					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						GCCGGAGCATGCTCGTGGGCC	0.716													A	28338050	G	A	28338050	3	1	63	1	0	0	0	0	1	0	0	0	269	1319	46	2	2163	2	ADAMTS5	21	28338050	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	10891	28338050	19791845	1784	46517											
RNF160	26046	broad.mit.edu	37	chr21	30302779	30302779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaaaaatctcagaaaaaCgtctcacgacacagtggaca	7	9	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:30302779C>T	uc002ymr.2	-	30	5443	c.5430G>A	c.(5428-5430)ACG>ACA	p.T1810T		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	1764							ligase activity|zinc ion binding				0						CTCAGAAAAACGTCTCACGAC	0.383													T	30302779	C	T	30302779	2	4	63	1	0	0	0	0	0	0	0	1	13455	523	19	1		1	RNF160	21	30302779	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1964729	30302779	17827116	1785	46518											
RNF160	26046	broad.mit.edu	37	chr21	30341860	30341860	+	Frame_Shift_Del	DEL	A	A	-													attataaaacgtaagcattcAaaaaaagcagatattactgc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:30341860delA	uc002ymr.2	-	9	1390	c.1377delT	c.(1375-1377)TTTfs	p.F459fs	RNF160_uc010gll.1_RNA	NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	413				F -> Y (in Ref. 5; BAA91976).			ligase activity|zinc ion binding				0						GTAAGCATTCAAAAAAAGCAG	0.358													-	30341860	A	-	30341860	7	5	63	1	0	1	0	1	0	0	0	0	13455	127	5	0	4149	0	RNF160	21	30341860	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	39081	30341860	17788035	1786	46519											
CLDN17	26285	broad.mit.edu	37	chr21	31538698	31538698	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacacacatgagggcccgggCtgtttccagggcaggcggga	16	12	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:31538698C>A	uc011acv.1	-	1	238	c.238G>T	c.(238-240)GCC>TCC	p.A80S		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	80	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2						AGGGCCCGGGCTGTTTCCAGG	0.572													A	31538698	C	A	31538698	3	1	63	1	0	0	0	0	1	0	0	0	3478	797	28	5	440	5	CLDN17	21	31538698	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1196838	31538698	16591197	1787	46520											
PDE9A	5152	broad.mit.edu	37	chr21	44182195	44182195	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctccttgcctcccaggtAccagatcaatgcccgcacag	7	17	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:44182195A>G	uc002zbm.2	+	14	1151	c.1088A>G	c.(1087-1089)TAC>TGC	p.Y363C	PDE9A_uc002zbn.2_Missense_Mutation_p.Y236C|PDE9A_uc002zbo.2_Missense_Mutation_p.Y310C|PDE9A_uc002zbp.2_Missense_Mutation_p.Y156C|PDE9A_uc002zbq.2_Missense_Mutation_p.Y261C|PDE9A_uc002zbs.2_Missense_Mutation_p.Y156C|PDE9A_uc002zbr.2_Missense_Mutation_p.Y156C|PDE9A_uc002zbt.2_Missense_Mutation_p.Y235C|PDE9A_uc002zbu.2_Missense_Mutation_p.Y229C|PDE9A_uc002zbv.2_Missense_Mutation_p.Y203C|PDE9A_uc002zbw.2_Missense_Mutation_p.Y146C|PDE9A_uc002zbx.2_Missense_Mutation_p.Y303C|PDE9A_uc002zby.2_Missense_Mutation_p.Y146C|PDE9A_uc002zbz.2_Missense_Mutation_p.Y255C|PDE9A_uc002zca.2_Missense_Mutation_p.Y322C|PDE9A_uc002zcb.2_Missense_Mutation_p.Y337C|PDE9A_uc002zcc.2_Missense_Mutation_p.Y262C|PDE9A_uc002zcd.2_Missense_Mutation_p.Y277C|PDE9A_uc002zce.2_Missense_Mutation_p.Y296C|PDE9A_uc002zcf.2_Missense_Mutation_p.Y156C|PDE9A_uc002zcg.2_Missense_Mutation_p.Y156C|PDE9A_uc002zch.2_Missense_Mutation_p.Y146C|PDE9A_uc010gpf.1_Missense_Mutation_p.Y156C	NM_002606	NP_002597	O76083	PDE9A_HUMAN	phosphodiesterase 9A isoform a	363	Catalytic (By similarity).				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|skin(1)	2						CCTCCCAGGTACCAGATCAAT	0.617													G	44182195	A	G	44182195	3	3	63	1	0	0	0	0	1	0	0	0	11655	391	14	3	1222	3	PDE9A	21	44182195	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	12643497	44182195	3947700	1788	46521											
PKNOX1	5316	broad.mit.edu	37	chr21	44438315	44438315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacagacattgtcgcctgGgacaattaggatccagaact	9	11	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:44438315G>A	uc002zcq.1	+	7	883	c.695G>A	c.(694-696)GGG>GAG	p.G232E	PKNOX1_uc002zcp.1_Missense_Mutation_p.G232E|PKNOX1_uc011aex.1_Missense_Mutation_p.G115E	NM_004571	NP_004562	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	232							sequence-specific DNA binding			large_intestine(2)	2						TTGTCGCCTGGGACAATTAGG	0.542													A	44438315	G	A	44438315	3	1	63	1	0	0	0	0	1	0	0	0	11982	1232	43	4	717	4	PKNOX1	21	44438315	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	256120	44438315	3691580	1789	46522											
KRTAP10-6	386674	broad.mit.edu	37	chr21	46012220	46012221	+	In_Frame_Ins	INS	-	-	GGGGCGCAGCAGCTG													caggctcaggcagggggccgINSgggcgcagcaggggggctca					rs71199613		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:46012219_46012220C>CGGGGCGCAGCAGCTG	uc002zfm.3	-	0	167_168	c.146_147G>CAGCTGCTGCGCCCCG	c.(145-147)ccg>cCAGCTGCTGCGCCCCG	p.49_49P>PAAAP	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	49	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGGCCGGGGCGCAGCA	0.688													GGGGCGCAGCAGCTG	46012221	-	GGGGCGCAGCAGCTG	46012220	7	5	63	1	0	1	1	0	0	0	0	0	8513	1116	39	0	955	0	KRTAP10-6	21	46012220	In_Frame_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1573905	46012220	2117675	1790	46523											
KRTAP12-2	353323	broad.mit.edu	37	chr21	46086770	46086770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggcgcgcagcaggctgGctggcagcccgaggagcagc	19	13	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:46086770G>A	uc002zfu.2	-	1	75	c.34C>T	c.(34-36)CCA>TCA	p.P12S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181684	NP_859012	P59991	KR122_HUMAN	keratin associated protein 12-2	12	1.|23 X 5 AA approximate repeats.					keratin filament					0						CAGCAGGCTGGCTGGCAGCCC	0.677													A	46086770	G	A	46086770	3	1	63	1	0	0	0	0	1	0	0	0	8519	1203	42	2	410	2	KRTAP12-2	21	46086770	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	74550	46086770	2043125	1791	46524											
POFUT2	23275	broad.mit.edu	37	chr21	46705828	46705828	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccttccggggggttgacGtcatacagaagatacctgag	13	9	1	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:46705828G>A	uc002zhc.2	-	2	172	c.147C>T	c.(145-147)GAC>GAT	p.D49D	POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Silent_p.D49D|POFUT2_uc011afp.1_Silent_p.D49D|POFUT2_uc011afq.1_Silent_p.D49D|LOC642852_uc002zhf.2_5'Flank	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2 isoform C	49					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity				0				Colorectal(79;0.243)		GGGGGTTGACGTCATACAGAA	0.557													A	46705828	G	A	46705828	2	1	63	1	0	0	0	0	0	0	0	1	12184	1136	40	1		1	POFUT2	21	46705828	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	619058	46705828	1424067	1792	46525											
COL18A1	80781	broad.mit.edu	37	chr21	46924392	46924392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggggagcccgggggcggCggtttcttcggctccagcct	19	12	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:46924392C>T	uc011afs.1	+	33	4056	c.4035C>T	c.(4033-4035)GGC>GGT	p.G1345G	COL18A1_uc002zhg.2_Silent_p.G930G|COL18A1_uc002zhi.2_Silent_p.G1110G|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_5'UTR	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1345	Triple-helical region 8 (COL8).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCGGGGGCGGCGGTTTCTTCG	0.517													T	46924392	C	T	46924392	2	4	63	1	0	0	0	0	0	0	0	1	3675	755	27	1		1	COL18A1	21	46924392	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	218564	46924392	1205503	1793	46526											
PCNT	5116	broad.mit.edu	37	chr21	47831338	47831338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccaggccgggggccctcGtgggcaggccctacagggcg	17	16	0	0	rs139624079		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:47831338G>A	uc002zji.3	+	28	5458	c.5351G>A	c.(5350-5352)CGT>CAT	p.R1784H	PCNT_uc002zjj.2_Missense_Mutation_p.R1666H	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1784	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GGGGGCCCTCGTGGGCAGGCC	0.701													A	47831338	G	A	47831338	3	1	63	1	0	0	0	0	1	0	0	0	11590	1145	40	1	5461	1	PCNT	21	47831338	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	906946	47831338	298557	1794	46527											
CECR6	27439	broad.mit.edu	37	chr22	17600895	17600895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgccgatcccgggggcgCgcccgcctcgctgatggccc	14	19	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:17600895C>T	uc002zmb.2	-	1	1319	c.1123G>A	c.(1123-1125)GCG>ACG	p.A375T	CECR6_uc002zma.2_Missense_Mutation_p.A20T|uc002zmc.2_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	375											0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		CCCGGGGGCGCGCCCGCCTCG	0.721													T	17600895	C	T	17600895	3	4	63	1	0	0	0	0	1	0	0	0	3208	768	27	1	617	1	CECR6	22	17600895	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08		17600895	33703671	1795	46528											
MICAL3	57553	broad.mit.edu	37	chr22	18300180	18300182	+	In_Frame_Del	DEL	CTT	CTT	-													tcggccttcttcttcttgtcCttcttgtacccggagaagac							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:18300179_18300181CCTT>C	uc002zng.4	-	25	5599_5601	c.5246_5248AAGG>G	c.(5245-5250)aaggac>aGac	p.1749_1750KD>R	MICAL3_uc011agl.2_In_Frame_Del_p.1665_1666KD>R|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1749						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTCTTCTTGTCCTTCTTGTACCC	0.645													-	18300182	CTT	-	18300180	7	5	63	1	0	1	0	1	0	0	0	0	9571	680	24	0	789	0	MICAL3	22	18300180	In_Frame_Del	DEL	CTT	TCGA-BR-8078-01A-11D-2340-08	699285	18300180	33004386	1796	46529											
PEX26	55670	broad.mit.edu	37	chr22	18566233	18566233	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacagcaaaatgcaagagccTggagctgtgctggatgtggt	14	7	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:18566233T>C	uc002znp.3	+	4	611	c.402T>C	c.(400-402)CCT>CCC	p.P134P	TUBA8_uc002znr.2_Intron|PEX26_uc002znq.3_Silent_p.P134P|PEX26_uc002znt.2_Silent_p.P134P	NM_017929	NP_060399	Q7Z412	PEX26_HUMAN	peroxisome biogenesis factor 26	134	Cytoplasmic (Potential).				protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			skin(1)	1						TGCAAGAGCCTGGAGCTGTGC	0.493													C	18566233	T	C	18566233	2	2	63	1	0	0	0	0	0	0	0	1	11746	1567	55	3		3	PEX26	22	18566233	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	266053	18566233	32738333	1797	46530											
GNB1L	54584	broad.mit.edu	37	chr22	19776447	19776447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccggatcgtgacctcggCgatcccgggattggtgagtt	16	10	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:19776447C>T	uc002zqe.1	-	7	1163	c.769G>A	c.(769-771)GCC>ACC	p.A257T	GNB1L_uc002zqd.1_Missense_Mutation_p.A113T|GNB1L_uc002zqf.1_Missense_Mutation_p.A257T	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein	257	WD 5.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)	1	Colorectal(54;0.0993)					GTGACCTCGGCGATCCCGGGA	0.637													T	19776447	C	T	19776447	3	4	63	1	0	0	0	0	1	0	0	0	6516	768	27	1	218	1	GNB1L	22	19776447	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1210214	19776447	31528119	1798	46531											
DGCR8	54487	broad.mit.edu	37	chr22	20073923	20073923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagagcgcgacgtgcgggCggagtgcggtctgctcctta	17	11	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:20073923C>T	uc002zri.2	+	2	787	c.437C>T	c.(436-438)GCG>GTG	p.A146V	DGCR8_uc010grz.2_Missense_Mutation_p.A146V|DGCR8_uc002zrj.2_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	146	Necessary for nuclear localization and retention.|Necessary for interaction with NCL.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					GACGTGCGGGCGGAGTGCGGT	0.577													T	20073923	C	T	20073923	3	4	63	1	0	0	0	0	1	0	0	0	4464	768	27	1	439	1	DGCR8	22	20073923	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	297476	20073923	31230643	1799	46532											
MED15	51586	broad.mit.edu	37	chr22	20918929	20918930	+	Missense_Mutation	DNP	AG	AG	TC													gcagctccagcagcagcagcAgcagcagcagcatctaatta							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:20918929_20918930AG>TC	uc002zsp.2	+	6	724_725	c.644_645AG>TC	c.(643-645)CAG>CTC	p.Q215L	MED15_uc002zsn.1_Missense_Mutation_p.Q134L|MED15_uc002zso.2_Missense_Mutation_p.Q144L|MED15_uc002zsq.2_Missense_Mutation_p.Q215L|MED15_uc010gso.2_Missense_Mutation_p.Q215L|MED15_uc002zsr.2_Missense_Mutation_p.Q189L|MED15_uc011ahs.1_Missense_Mutation_p.Q189L|MED15_uc011aht.1_Missense_Mutation_p.Q189L|MED15_uc002zss.2_Missense_Mutation_p.Q134L|MED15_uc011ahu.1_5'Flank	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	215	Poly-Gln.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			cagcagcagcagcagcagcagc	0.233											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	TC	20918930	AG	TC	20918929	3	4	63	1	0	0	0	0	1	0	0	0	9433	188	7	5	666	5	MED15	22	20918929	Missense_Mutation	DNP	AG	TCGA-BR-8078-01A-11D-2340-08	845006	20918929	30385637	1800	46533											
LZTR1	8216	broad.mit.edu	37	chr22	21346541	21346541	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgagcgagcctgtgcttcCgaggaggtgcccaccctgac	13	16	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:21346541C>T	uc002zto.2	+	10	1135	c.1032C>T	c.(1030-1032)TCC>TCT	p.S344S	LZTR1_uc002ztn.2_Silent_p.S303S|LZTR1_uc011ahy.1_Silent_p.S325S|LZTR1_uc010gsr.1_Silent_p.S215S	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	344					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCTGTGCTTCCGAGGAGGTGC	0.612													T	21346541	C	T	21346541	2	4	63	1	0	0	0	0	0	0	0	1	9137	639	23	1		1	LZTR1	22	21346541	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	427612	21346541	29958025	1801	46534											
HIC2	23119	broad.mit.edu	37	chr22	21800988	21800988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcaagttcacccagcagCgcaacctcatcagccacctg	10	16	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:21800988C>T	uc002zur.3	+	3	2034	c.1804C>T	c.(1804-1806)CGC>TGC	p.R602C	HIC2_uc002zus.3_Missense_Mutation_p.R602C	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	602	C2H2-type 5.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CACCCAGCAGCGCAACCTCAT	0.652													T	21800988	C	T	21800988	3	4	63	1	0	0	0	0	1	0	0	0	7102	768	27	1	1810	1	HIC2	22	21800988	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	454447	21800988	29503578	1802	46535											
YPEL1	29799	broad.mit.edu	37	chr22	22064942	22064942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgagctcgtcatgattgGccaggtgtgctctgcagtgg	15	8	2	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:22064942G>A	uc002zvl.2	-	2	424	c.92C>T	c.(91-93)GCC>GTC	p.A31V	YPEL1_uc002zvm.2_RNA	NM_013313	NP_037445	O60688	YPEL1_HUMAN	yippee-like 1	31						nucleus					0	Colorectal(54;0.105)					GTCATGATTGGCCAGGTGTGC	0.453													A	22064942	G	A	22064942	3	1	63	1	0	0	0	0	1	0	0	0	17486	1203	42	2	283	2	YPEL1	22	22064942	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	263954	22064942	29239624	1803	46536											
ZNF280A	129025	broad.mit.edu	37	chr22	22869135	22869135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaaagttgctaagtaacaCgatgggattttctttcttgg	10	5	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:22869135C>T	uc002zwe.2	-	2	1073	c.820G>A	c.(820-822)GTG>ATG	p.V274M	LOC96610_uc011aim.1_Intron	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CTAAGTAACACGATGGGATTT	0.443													T	22869135	C	T	22869135	3	4	63	1	0	0	0	0	1	0	0	0	17811	536	19	1	812	1	ZNF280A	22	22869135	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	804193	22869135	28435431	1804	46537											
GNAZ	2781	broad.mit.edu	37	chr22	23438488	23438488	+	Frame_Shift_Del	DEL	G	G	-													accttcaagatggtggacgtGggggggcagaggtcagagcg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:23438487_23438487TG>T	uc002zwu.1	+	1	1142	c.605_605TG>T	c.(604-606)gtgfs	p.V202fs	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	202						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	p.D201D(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		ATGGTGGACGTGGGGGGGCAG	0.577													-	23438488	G	-	23438488	7	5	63	1	0	1	0	1	0	0	0	0	6514	1335	47	0	608	0	GNAZ	22	23438488	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	569353	23438488	27866078	1805	46538											
MN1	4330	broad.mit.edu	37	chr22	28193690	28193690	+	Frame_Shift_Del	DEL	T	T	-													gctcacgtgaccactgtcccTttttctgcgaccccgtcccc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:28193689_28193689CT>C	uc003adj.3	-	0	3798	c.2843_2843AG>G	c.(2842-2844)aggfs	p.R948fs		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	948							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ACCACTGTCCCTTTTTCTGCG	0.687			T	ETV6	"AML, meningioma"								-	28193690	T	-	28193690	7	5	63	1	0	1	0	1	0	0	0	0	9673	1608	56	0	1128	0	MN1	22	28193690	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	4755202	28193690	23110876	1806	46539											
ZNRF3	84133	broad.mit.edu	37	chr22	29445999	29445999	+	Frame_Shift_Del	DEL	G	G	-													ccctgtcgtgccagtgaggcGgggggctcgggcagctcggg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:29445999delG	uc003aeg.2	+	8	1695	c.1530delG	c.(1528-1530)GCGfs	p.A510fs	ZNRF3_uc003aeh.1_Frame_Shift_Del_p.A510fs	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	610	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1						CCAGTGAGGCGGGGGGCTCGG	0.716													-	29445999	G	-	29445999	7	5	63	1	0	1	0	1	0	0	0	0	18210	1103	39	0	1556	0	ZNRF3	22	29445999	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	1252309	29445999	21858567	1807	46540											
AP1B1	162	broad.mit.edu	37	chr22	29727444	29727444	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctcatgactcacccatctTcccgtcctccacaaagagga	5	18	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:29727444T>C	uc003afj.2	-	19	2702	c.2518A>G	c.(2518-2520)AAG>GAG	p.K840E	AP1B1_uc003afi.2_Missense_Mutation_p.K833E|AP1B1_uc003afk.2_Missense_Mutation_p.K833E|AP1B1_uc003afl.2_Missense_Mutation_p.K813E|AP1B1_uc003afh.2_Missense_Mutation_p.K37E|AP1B1_uc011ako.1_Missense_Mutation_p.K393E	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	840					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						TCACCCATCTTCCCGTCCTCC	0.577													C	29727444	T	C	29727444	3	2	63	1	0	0	0	0	1	0	0	0	731	1792	62	3	351	3	AP1B1	22	29727444	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	281445	29727444	21577122	1808	46541											
DEPDC5	9681	broad.mit.edu	37	chr22	32242937	32242937	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctctctgccctgttggagAtggaggccagtcagaagtaa	12	10	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:32242937A>G	uc003als.2	+	31	3254	c.3112A>G	c.(3112-3114)ATG>GTG	p.M1038V	DEPDC5_uc011als.1_Missense_Mutation_p.M969V|DEPDC5_uc011alu.1_Missense_Mutation_p.M1047V|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.M1038V|DEPDC5_uc003alu.2_Missense_Mutation_p.M487V|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.M368V|DEPDC5_uc003alw.2_Missense_Mutation_p.M336V|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_Missense_Mutation_p.M42V	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1038					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						CCTGTTGGAGATGGAGGCCAG	0.562													G	32242937	A	G	32242937	3	3	63	1	0	0	0	0	1	0	0	0	4442	333	12	3	3248	3	DEPDC5	22	32242937	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	2515493	32242937	19061629	1809	46542											
MYH9	4627	broad.mit.edu	37	chr22	36681986	36681986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcgcttggcacgctccGcggctgccagttcctgccac	12	18	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:36681986G>A	uc003apg.2	-	36	5306	c.5075C>T	c.(5074-5076)GCG>GTG	p.A1692V		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1692	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GGCACGCTCCGCGGCTGCCAG	0.647			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				A	36681986	G	A	36681986	3	1	63	1	0	0	0	0	1	0	0	0	10042	1087	38	1	831	1	MYH9	22	36681986	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	4439049	36681986	14622580	1810	46543											
CSF2RB	1439	broad.mit.edu	37	chr22	37329915	37329915	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaacgcccacagcatggcCctgccagccctggagccctc	10	19	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:37329915C>T	uc003aqa.3	+	10	1411	c.1194C>T	c.(1192-1194)GCC>GCT	p.A398A	CSF2RB_uc003aqc.3_Silent_p.A404A	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	398	Extracellular (Potential).|Fibronectin type-III 2.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	ACAGCATGGCCCTGCCAGCCC	0.677													T	37329915	C	T	37329915	2	4	63	1	0	0	0	0	0	0	0	1	3935	610	22	4		4	CSF2RB	22	37329915	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	647929	37329915	13974651	1811	46544											
SSTR3	6753	broad.mit.edu	37	chr22	37602621	37602622	+	Frame_Shift_Ins	INS	-	-	C													cgcatcgtgctggacttctcINScccagtggaagcctcttggg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:37602620_37602621T>TC	uc003ara.3	-	1	1284_1285	c.1222_1223A>GA	c.(1222-1224)gagfs	p.E408fs	SSTR3_uc003arb.3_Frame_Shift_Ins_p.E408fs|SSTR3_uc021wos.1_Frame_Shift_Ins_p.E408fs	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	408					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GCTGGACTTCTCCCCAGTGGAA	0.653													C	37602622	-	C	37602621	7	5	63	1	0	1	1	0	0	0	0	0	15198	864	30	0	38	0	SSTR3	22	37602621	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	272706	37602621	13701945	1812	46545											
LGALS2	3957	broad.mit.edu	37	chr22	37966414	37966415	+	Frame_Shift_Del	DEL	TG	TG	-													ttgtcactctcaaaggtcacTgtgaactgtggggagggagg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:37966414_37966415delTG	uc003ata.2	-	4	366_367	c.254_255delCA	c.(253-255)ACAfs	p.T85fs		NM_006498	NP_006489	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	85	Galectin.									breast(1)|skin(1)	2	Melanoma(58;0.0574)					CAAAGGTCACTGTGAACTGTGG	0.589													-	37966415	TG	-	37966414	7	5	63	1	0	1	0	1	0	0	0	0	8742	1567	55	0	147	0	LGALS2	22	37966414	Frame_Shift_Del	DEL	TG	TCGA-BR-8078-01A-11D-2340-08	363793	37966414	13338152	1813	46546											
TRIOBP	11078	broad.mit.edu	37	chr22	38154108	38154108	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagccgcggagagcgccgagGgcccccaagtgacggccacg	16	15	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:38154108G>T	uc003atr.2	+	16	6447	c.6176G>T	c.(6175-6177)GGG>GTG	p.G2059V	TRIOBP_uc003atu.2_Missense_Mutation_p.G1887V|TRIOBP_uc003atv.2_Missense_Mutation_p.G346V|TRIOBP_uc003atw.2_Missense_Mutation_p.G346V|TRIOBP_uc003atx.1_5'UTR|TRIOBP_uc010gxh.2_5'UTR	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	2059					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					GAGCGCCGAGGGCCCCCAAGT	0.662													T	38154108	G	T	38154108	3	4	63	1	0	0	0	0	1	0	0	0	16550	1232	43	5	6417	5	TRIOBP	22	38154108	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	187694	38154108	13150458	1814	46547											
GCAT	23464	broad.mit.edu	37	chr22	38208895	38208895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcactcattttcttcagaGcatccacaagaatctagaag	5	11	5	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:38208895G>A	uc003atz.2	+	3	349	c.329G>A	c.(328-330)AGC>AAC	p.S110N	GCAT_uc003aua.1_Missense_Mutation_p.S136N	NM_014291	NP_055106	O75600	KBL_HUMAN	glycine C-acetyltransferase precursor	110					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups				0	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTTCTTCAGAGCATCCACAAG	0.542													A	38208895	G	A	38208895	3	1	63	1	0	0	0	0	1	0	0	0	6284	985	34	2	417	2	GCAT	22	38208895	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	54787	38208895	13095671	1815	46548											
MICALL1	85377	broad.mit.edu	37	chr22	38323740	38323740	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtccccagccagccaagccCtgcagtggcgccaccccaac	10	20	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:38323740C>A	uc003aui.2	+	9	1872	c.1788C>A	c.(1786-1788)CCC>CCA	p.P596P		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13	596	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)					CAGCCAAGCCCTGCAGTGGCG	0.642													A	38323740	C	A	38323740	2	1	63	1	0	0	0	0	0	0	0	1	9573	668	24	5		5	MICALL1	22	38323740	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	114845	38323740	12980826	1816	46549											
NPTXR	23467	broad.mit.edu	37	chr22	39222642	39222642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccgcagccacatgcaggCggtgaatgcgtagagctcgg	16	11	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:39222642C>T	uc003awk.2	-	3	1115	c.961G>A	c.(961-963)GCC>ACC	p.A321T		NM_014293	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	321	Pentaxin.|Extracellular (Potential).					integral to membrane	metal ion binding			central_nervous_system(2)|skin(1)	3	Melanoma(58;0.04)					CACATGCAGGCGGTGAATGCG	0.622													T	39222642	C	T	39222642	3	4	63	1	0	0	0	0	1	0	0	0	10604	768	27	1	553	1	NPTXR	22	39222642	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	898902	39222642	12081924	1817	46550											
APOBEC3D	140564	broad.mit.edu	37	chr22	39427960	39427960	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggaaggggcctccgtgAagatcatgggctacaaaggt	15	8	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:39427960A>G	uc011aoe.1	+	6	1078	c.1024A>G	c.(1024-1026)AAG>GAG	p.K342E	APOBEC3D_uc011aof.1_Missense_Mutation_p.K158E|APOBEC3D_uc003awu.3_Missense_Mutation_p.K158E|APOBEC3D_uc003awt.3_Missense_Mutation_p.K342E|APOBEC3D_uc010gxu.2_Missense_Mutation_p.K138E	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	342					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding				0	Melanoma(58;0.04)					GGCCTCCGTGAAGATCATGGG	0.622													G	39427960	A	G	39427960	3	3	63	1	0	0	0	0	1	0	0	0	792	247	9	3	1046	3	APOBEC3D	22	39427960	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	205318	39427960	11876606	1818	46551											
TAB1	10454	broad.mit.edu	37	chr22	39772049	39772049	+	Frame_Shift_Del	DEL	C	C	-													tattctgcccggtcctgggaCcccccagccttctgggcttt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:39772048_39772048AC>A	uc003axr.3	+	1	1889	c.107_107AC>A	c.(106-108)gacfs	p.D36fs	TAB1_uc003axo.4_Intron|TAB1_uc003axq.4_Intron|TAB1_uc003axs.4_Intron	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	0					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CGGTCCTGGGACCCCCCAGCC	0.597													-	39772049	C	-	39772049	7	5	63	1	0	1	0	1	0	0	0	0	15492	522	18	0		0	TAB1	22	39772049	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	344089	39772049	11532517	1819	46552											
TAB1	10454	broad.mit.edu	37	chr22	39817856	39817856	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccaagtccaaaccaatcatCgcagagccagaaatccatgg	8	13	1	2	rs145765457		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:39817856C>T	uc003axt.2	+	8	850	c.801C>T	c.(799-801)ATC>ATT	p.I267I	TAB1_uc003axr.2_Silent_p.I343I|TAB1_uc011aok.1_Silent_p.I101I|TAB1_uc003axu.1_Silent_p.I267I	NM_006116	NP_006107	Q15750	TAB1_HUMAN	mitogen-activated protein kinase kinase kinase 7	267	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)	1						AACCAATCATCGCAGAGCCAG	0.587													T	39817856	C	T	39817856	2	4	63	1	0	0	0	0	0	0	0	1	15492	874	31	1		1	TAB1	22	39817856	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	45807	39817856	11486710	1820	46553											
CACNA1I	8911	broad.mit.edu	37	chr22	40056439	40056439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaaggcctggacagcagcGgaggtaaacaggccctcgct	15	11	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:40056439G>A	uc003ayc.2	+	15	2695	c.2695G>A	c.(2695-2697)GGA>AGA	p.G899R	CACNA1I_uc003ayd.2_Missense_Mutation_p.G864R|CACNA1I_uc003aye.2_Missense_Mutation_p.G814R|CACNA1I_uc003ayf.2_Missense_Mutation_p.G779R	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	899	Cytoplasmic (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGACAGCAGCGGAGGTAAACA	0.587													A	40056439	G	A	40056439	3	1	63	1	0	0	0	0	1	0	0	0	2546	1117	39	1	2753	1	CACNA1I	22	40056439	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	238583	40056439	11248127	1821	46554											
DNAJB7	150353	broad.mit.edu	37	chr22	41257619	41257619	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctctgtttctgtttccaTaggagcttcctggacgattt	8	10	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:41257619T>C	uc003azj.2	-	1	512	c.380A>G	c.(379-381)TAT>TGT	p.Y127C	XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_Intron|XPNPEP3_uc003azf.1_Intron|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	127					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)	1						TCTGTTTCCATAGGAGCTTCC	0.358													C	41257619	T	C	41257619	3	2	63	1	0	0	0	0	1	0	0	0	4625	1406	49	3	553	3	DNAJB7	22	41257619	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1201180	41257619	10046947	1822	46555											
A4GALT	53947	broad.mit.edu	37	chr22	43089138	43089138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagggtggtgacgccgcGgcaggcgcggctctcggcca	20	13	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:43089138G>A	uc003bdb.2	-	3	1081	c.820C>T	c.(820-822)CGC>TGC	p.R274C	A4GALT_uc010gzd.2_Missense_Mutation_p.R274C	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	274	Lumenal (Potential).				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			central_nervous_system(2)	2						GTGACGCCGCGGCAGGCGCGG	0.662													A	43089138	G	A	43089138	3	1	63	1	0	0	0	0	1	0	0	0	6	1116	39	1	245	1	A4GALT	22	43089138	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1831519	43089138	8215428	1823	46556											
NUP50	10762	broad.mit.edu	37	chr22	45580379	45580379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacccaatatgccatgtaCgcgaacagggaagaataacg	9	11	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:45580379C>T	uc003bfr.2	+	8	1712	c.1250C>T	c.(1249-1251)ACG>ATG	p.T417M	NUP50_uc003bfs.2_Missense_Mutation_p.T389M|NUP50_uc011aqn.1_Missense_Mutation_p.T167M|NUP50_uc003bft.2_Missense_Mutation_p.T389M|NUP50_uc011aqo.1_3'UTR	NM_007172	NP_009103	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa isoform b	417	RanBD1.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATGCCATGTACGCGAACAGGG	0.418													T	45580379	C	T	45580379	3	4	63	1	0	0	0	0	1	0	0	0	10766	536	19	1	1276	1	NUP50	22	45580379	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2491241	45580379	5724187	1824	46557											
CELSR1	9620	broad.mit.edu	37	chr22	46765689	46765689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagccctgggggtccaggCcgaccgccagtcctgaacac	13	16	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:46765689C>T	uc003bhw.1	-	26	7772	c.7772G>A	c.(7771-7773)GGC>GAC	p.G2591D	CELSR1_uc011arc.1_Silent_p.R1056R	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2591	Helical; Name=4; (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGGGTCCAGGCCGACCGCCAG	0.637													T	46765689	C	T	46765689	3	4	63	1	0	0	0	0	1	0	0	0	3221	739	26	2	1312	2	CELSR1	22	46765689	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1185310	46765689	4538877	1825	46558											
CELSR1	9620	broad.mit.edu	37	chr22	46931227	46931227	+	Frame_Shift_Del	DEL	C	C	-													tcttaggcccagcgctgccgCcccccagaaaggtggaggcc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:46931226_46931226GC>G	uc003bhw.1	-	0	1842	c.1842_1842GC>C	c.(1840-1842)ggcfs	p.G614fs		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	614	Cadherin 4.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGCGCTGCCGCCCCCCAGAA	0.657													-	46931227	C	-	46931227	7	5	63	1	0	1	0	1	0	0	0	0	3221	739	26	0	7343	0	CELSR1	22	46931227	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	165538	46931227	4373339	1826	46559											
BRD1	23774	broad.mit.edu	37	chr22	50169703	50169703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagccgtactcaccagtgCcgggtaggaggggtagccgc	17	11	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:50169703C>T	uc003biv.2	-	10	3320	c.2833G>A	c.(2833-2835)GCA>ACA	p.A945T	BRD1_uc011arf.1_Missense_Mutation_p.A671T|BRD1_uc011arg.1_Missense_Mutation_p.A994T|BRD1_uc011arh.1_Missense_Mutation_p.A945T|BRD1_uc003biu.3_Missense_Mutation_p.A1076T	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	945	PWWP.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTCACCAGTGCCGGGTAGGAG	0.692													T	50169703	C	T	50169703	3	4	63	1	0	0	0	0	1	0	0	0	1501	739	26	2	355	2	BRD1	22	50169703	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3238476	50169703	1134863	1827	46560											
MOV10L1	54456	broad.mit.edu	37	chr22	50582604	50582604	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacctcgtgtgtctgcggCtgcacgagagcaaggtgcta	14	11	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:50582604C>T	uc003bjj.2	+	18	2520	c.2437C>T	c.(2437-2439)CTG>TTG	p.L813L	MOV10L1_uc003bjk.3_Silent_p.L813L|MOV10L1_uc011arp.1_Silent_p.L793L|MOV10L1_uc003bjl.2_5'Flank	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	813					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTGTCTGCGGCTGCACGAGAG	0.602													T	50582604	C	T	50582604	2	4	63	1	0	0	0	0	0	0	0	1	9719	796	28	2		2	MOV10L1	22	50582604	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	412901	50582604	721962	1828	46561											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51043393	51043393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcgcggcgctgctaggcGgcggtcaggtctcgggggac	21	12	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:51043393G>A	uc003bmx.2	+	6	1783	c.1666G>A	c.(1666-1668)GGC>AGC	p.G556S	MAPK8IP2_uc003bmy.2_Missense_Mutation_p.G529S|MAPK8IP2_uc011asc.1_5'Flank	NM_012324	NP_036456	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting	556					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			large_intestine(2)|central_nervous_system(1)	3		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCTGCTAGGCGGCGGTCAGGT	0.677													A	51043393	G	A	51043393	3	1	63	1	0	0	0	0	1	0	0	0	9285	1103	39	1	1773	1	MAPK8IP2	22	51043393	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	460789	51043393	261173	1829	46562											
PPP2R3B	28227	broad.mit.edu	37	chrX	302052	302052	+	Frame_Shift_Del	DEL	T	T	-													aggaacccacctggtcggtgTttttttgtcttcctcagaga							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:302051_302051GT>G	uc004cpg.3	-	8	1430	c.1166_1166AC>C	c.(1165-1167)acafs	p.T389fs	PPP2R3B_uc004cpf.3_5'UTR	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA.	389	EF-hand.				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGGTCGGTGTTTTTTTGTC	0.562													-	302052	T	-	302052	7	5	63	1	0	1	0	1	0	0	0	0	12389	1725	60	0	582	0	PPP2R3B	23	302052	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08		302052	154968508	1830	46563											
ZBED1	9189	broad.mit.edu	37	chrX	2408343	2408343	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtccacgatggaggctgGgtacagcccctcgcagatga	13	13	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:2408343G>T	uc004cqg.2	-	2	619	c.418C>A	c.(418-420)CCA>ACA	p.P140T	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.P140T	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	140						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATGGAGGCTGGGTACAGCCCC	0.662													T	2408343	G	T	2408343	3	4	63	1	0	0	0	0	1	0	0	0	17514	1232	43	5	1670	5	ZBED1	23	2408343	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2106291	2408343	152862217	1831	46564											
ARSE	415	broad.mit.edu	37	chrX	2867493	2867493	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataggagcttgcgaggaggaGgacggccgaaagggctgacc	18	8	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:2867493G>T	uc004crc.3	-	6	956	c.706C>A	c.(706-708)CTC>ATC	p.L236I	ARSE_uc011mhi.1_Missense_Mutation_p.L182I|ARSE_uc011mhh.1_Missense_Mutation_p.L261I	NM_000047	NP_000038	P51690	ARSE_HUMAN	arylsulfatase E precursor	236					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGAGGAGGAGGACGGCCGAA	0.567													T	2867493	G	T	2867493	3	4	63	1	0	0	0	0	1	0	0	0	990	1000	35	5	1087	5	ARSE	23	2867493	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	459150	2867493	152403067	1832	46565											
NLGN4X	57502	broad.mit.edu	37	chrX	5947435	5947435	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaagatcccccatggatatAgaccatgacgggcttcttac	9	11	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:5947435A>G	uc010ndh.2	-	3	1012	c.511T>C	c.(511-513)TAT>CAT	p.Y171H	NLGN4X_uc004crp.2_Missense_Mutation_p.Y191H|NLGN4X_uc004crq.2_Missense_Mutation_p.Y171H|NLGN4X_uc010ndi.2_Missense_Mutation_p.Y171H|NLGN4X_uc004crr.2_Missense_Mutation_p.Y171H|NLGN4X_uc010ndj.2_Missense_Mutation_p.Y171H	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	171	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						CCATGGATATAGACCATGACG	0.438													G	5947435	A	G	5947435	3	3	63	1	0	0	0	0	1	0	0	0	10464	420	15	3	1955	3	NLGN4X	23	5947435	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	3079942	5947435	149323125	1833	46566											
KAL1	3730	broad.mit.edu	37	chrX	8538695	8538695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacactcccatcactgttgaCggtggagttggccagccgga	12	13	1	1	rs144634904	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:8538695C>T	uc004csf.2	-	7	1057	c.907G>A	c.(907-909)GTC>ATC	p.V303I		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	303	Fibronectin type-III 2.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						TCACTGTTGACGGTGGAGTTG	0.522													T	8538695	C	T	8538695	3	4	63	1	0	0	0	0	1	0	0	0	7974	536	19	1	1167	1	KAL1	23	8538695	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2591260	8538695	146731865	1834	46567											
KAL1	3730	broad.mit.edu	37	chrX	8555939	8555939	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggctcaatagaaatattgaAtttcgaggaccacttaacct	7	8	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:8555939A>T	uc004csf.2	-	5	772	c.622T>A	c.(622-624)TTC>ATC	p.F208I		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	208	Fibronectin type-III 1.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						GAAATATTGAATTTCGAGGAC	0.463													T	8555939	A	T	8555939	3	4	63	1	0	0	0	0	1	0	0	0	7974	101	4	5	1460	5	KAL1	23	8555939	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	17244	8555939	146714621	1835	46568											
GEMIN8	54960	broad.mit.edu	37	chrX	14038456	14038456	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatagaaggactgaggataCgcagcctcattatcgtaaga	10	8	2	3	rs145346660		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:14038456C>T	uc004cwb.2	-	4	556	c.213G>A	c.(211-213)GCG>GCA	p.A71A	GEMIN8_uc004cwc.2_Silent_p.A71A|GEMIN8_uc004cwd.2_Silent_p.A71A	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	71					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding				0						ACTGAGGATACGCAGCCTCAT	0.493													T	14038456	C	T	14038456	2	4	63	1	0	0	0	0	0	0	0	1	6334	523	19	1		1	GEMIN8	23	14038456	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	5482517	14038456	141232104	1836	46569											
TXLNG	55787	broad.mit.edu	37	chrX	16838317	16838317	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttattactgatgcaagcccTaaacaccctttcaaccccag	4	14	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:16838317T>G	uc004cxq.1	+	3	488	c.437T>G	c.(436-438)CTA>CGA	p.L146R	TXLNG_uc010ney.1_Intron	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	146					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1						ATGCAAGCCCTAAACACCCTT	0.373													G	16838317	T	G	16838317	3	3	63	1	0	0	0	0	1	0	0	0	16786	1522	53	5	447	5	TXLNG	23	16838317	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	2799861	16838317	138432243	1837	46570											
TXLNG	55787	broad.mit.edu	37	chrX	16847735	16847735	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcacgagaggaagaagaaCgacgtaaagaagcaactgca	13	7	0	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:16847735C>T	uc004cxq.1	+	5	757	c.706C>T	c.(706-708)CGA>TGA	p.R236*	TXLNG_uc010ney.1_Nonsense_Mutation_p.R104*	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	236	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1						GGAAGAAGAACGACGTAAAGA	0.408													T	16847735	C	T	16847735	4	4	63	1	0	0	0	0	0	1	0	0	16786	528	19	1	724	1	TXLNG	23	16847735	Nonsense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	9418	16847735	138422825	1838	46571											
TXLNG	55787	broad.mit.edu	37	chrX	16850813	16850813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgccaaactgcagcaaaCgacacaactgataaaagaag	9	9	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:16850813C>T	uc004cxq.1	+	6	983	c.932C>T	c.(931-933)ACG>ATG	p.T311M	TXLNG_uc010ney.1_Missense_Mutation_p.T179M|TXLNG_uc004cxr.1_5'Flank	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	311	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1						CTGCAGCAAACGACACAACTG	0.388													T	16850813	C	T	16850813	3	4	63	1	0	0	0	0	1	0	0	0	16786	536	19	1	954	1	TXLNG	23	16850813	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3078	16850813	138419747	1839	46572											
REPS2	9185	broad.mit.edu	37	chrX	17092244	17092244	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctttgtttcagcaactccCaaggattccaacagtctcaa	5	12	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:17092244C>T	uc004cxv.1	+	12	1512	c.1341C>T	c.(1339-1341)CCC>CCT	p.P447P	REPS2_uc004cxw.1_Silent_p.P446P|REPS2_uc011miw.1_Intron	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	447					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			skin(2)|central_nervous_system(1)	3	Hepatocellular(33;0.183)					CAGCAACTCCCAAGGATTCCA	0.418													T	17092244	C	T	17092244	2	4	63	1	0	0	0	0	0	0	0	1	13229	581	21	4		4	REPS2	23	17092244	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	241431	17092244	138178316	1840	46573											
SMS	6611	broad.mit.edu	37	chrX	21995317	21995317	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataaaaattctacactcgaaGcagtttggaaatattctcat	5	7	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:21995317G>T	uc004dag.2	+	5	569	c.468G>T	c.(466-468)AAG>AAT	p.K156N	SMS_uc011mjq.1_Missense_Mutation_p.K60N|SMS_uc004daf.1_Missense_Mutation_p.K103N|SMS_uc010nfs.2_5'Flank|SMS_uc010nft.2_5'Flank	NM_004595	NP_004586	P52788	SPSY_HUMAN	spermine synthase	156					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			ovary(1)	1					Spermine(DB00127)	TACACTCGAAGCAGTTTGGAA	0.428													T	21995317	G	T	21995317	3	4	63	1	0	0	0	0	1	0	0	0	14813	962	34	5	486	5	SMS	23	21995317	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	4903073	21995317	133275243	1841	46574											
MAGEB18	286514	broad.mit.edu	37	chrX	26157454	26157454	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtgtcgctggtgcatttcTtgcttcagaagtatgaaacg	11	7	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:26157454T>G	uc004dbq.1	+	2	539	c.352T>G	c.(352-354)TTG>GTG	p.L118V		NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	118	MAGE.						protein binding			central_nervous_system(1)	1						GGTGCATTTCTTGCTTCAGAA	0.418													G	26157454	T	G	26157454	3	3	63	1	0	0	0	0	1	0	0	0	9175	1606	56	5	354	5	MAGEB18	23	26157454	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	4162137	26157454	129113106	1842	46575											
DCAF8L1	139425	broad.mit.edu	37	chrX	27999324	27999324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccggtcgatggctctgtgGctgccatttcaatgtctgag	12	11	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:27999324G>A	uc004dbx.1	-	1	243	c.128C>T	c.(127-129)GCC>GTC	p.A43V		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	43										ovary(3)|skin(1)	4						TGGCTCTGTGGCTGCCATTTC	0.532													A	27999324	G	A	27999324	3	1	63	1	0	0	0	0	1	0	0	0	4277	1203	42	2	1678	2	DCAF8L1	23	27999324	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1841870	27999324	127271236	1843	46576											
DMD	1756	broad.mit.edu	37	chrX	32305784	32305784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctatgaataatgtcaatcCgacctgagctttgttgtaga	9	7	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:32305784C>T	uc004dda.1	-	43	6396	c.6152G>A	c.(6151-6153)CGG>CAG	p.R2051Q	DMD_uc004dcw.2_Missense_Mutation_p.R707Q|DMD_uc004dcx.2_Missense_Mutation_p.R710Q|DMD_uc004dcz.2_Missense_Mutation_p.R1928Q|DMD_uc004dcy.1_Missense_Mutation_p.R2047Q|DMD_uc004ddb.1_Missense_Mutation_p.R2043Q|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_RNA	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2051	Spectrin 14.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AATGTCAATCCGACCTGAGCT	0.348													T	32305784	C	T	32305784	3	4	63	1	0	0	0	0	1	0	0	0	4580	652	23	1	5201	1	DMD	23	32305784	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4306460	32305784	122964776	1844	46577											
FAM47B	170062	broad.mit.edu	37	chrX	34961045	34961045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccaagtacttcgcgaagCgcaagcacaggcgcctgagg	12	13	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:34961045C>T	uc004ddi.1	+	1	115	c.97C>T	c.(97-99)CGC>TGC	p.R33C		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	33										ovary(3)|breast(1)	4						CTTCGCGAAGCGCAAGCACAG	0.617													T	34961045	C	T	34961045	3	4	63	1	0	0	0	0	1	0	0	0	5570	768	27	1	99	1	FAM47B	23	34961045	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2655261	34961045	120309515	1845	46578											
FAM47C	442444	broad.mit.edu	37	chrX	37027077	37027077	+	Frame_Shift_Del	DEL	C	C	-													gagactcgggtgtcctgtctCcccccggagcctcccaagac							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:37027077delC	uc004ddl.1	+	1	608	c.594delC	c.(592-594)CTCfs	p.L198fs		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	198										ovary(3)	3						TGTCCTGTCTCCCCCCGGAGC	0.642													-	37027077	C	-	37027077	7	5	63	1	0	1	0	1	0	0	0	0	5571	842	30	0	596	0	FAM47C	23	37027077	Frame_Shift_Del	DEL	C	TCGA-BR-8078-01A-11D-2340-08	2066032	37027077	118243483	1846	46579											
PRRG1	5638	broad.mit.edu	37	chrX	37312611	37312612	+	Frame_Shift_Ins	INS	-	-	C													ccttaatattatcaccccacINScccccccaccagatgaagtg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:37312610_37312611A>AC	uc004ddn.3	+	4	646_647	c.393_394A>AC	c.(391-396)ccacccfs	p.P131fs	PRRG1_uc004ddo.3_Frame_Shift_Ins_p.P131fs|PRRG1_uc022buu.1_Frame_Shift_Ins_p.P131fs|PRRG1_uc022buv.1_Frame_Shift_Ins_p.P131fs	NM_000950	NP_001166961	O14668	TMG1_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 1 (PRRG1), transcript variant 1, mRNA.	131	Poly-Pro.					extracellular region|integral to plasma membrane	calcium ion binding	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TTATCACCCCACCCCCCCCACC	0.485													C	37312612	-	C	37312611	7	5	63	1	0	1	1	0	0	0	0	0	12605	507	18	0	486	0	PRRG1	23	37312611	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	285534	37312611	117957949	1847	46580											
CYBB	1536	broad.mit.edu	37	chrX	37664356	37664356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattggggtcacacccttcGcatccattctcaagtcagtc	9	13	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:37664356G>A	uc004ddr.2	+	10	1310	c.1249G>A	c.(1249-1251)GCA>ACA	p.A417T	CYBB_uc011mkf.1_Missense_Mutation_p.A385T|CYBB_uc011mkg.1_Missense_Mutation_p.A150T	NM_000397	NP_000388	P04839	CY24B_HUMAN	cytochrome b-245 beta polypeptide	417	Cytoplasmic (Potential).				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						CACACCCTTCGCATCCATTCT	0.488													A	37664356	G	A	37664356	3	1	63	1	0	0	0	0	1	0	0	0	4133	1087	38	1	1287	1	CYBB	23	37664356	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	351745	37664356	117606204	1848	46581											
USP9X	8239	broad.mit.edu	37	chrX	41075795	41075795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccattgagagaagtgtacGgaaacagaacgtacaattca	10	7	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:41075795G>A	uc004dfb.2	+	35	6608	c.5975G>A	c.(5974-5976)CGG>CAG	p.R1992Q	USP9X_uc004dfc.2_Missense_Mutation_p.R1992Q	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1992					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						AGAAGTGTACGGAAACAGAAC	0.368													A	41075795	G	A	41075795	3	1	63	1	0	0	0	0	1	0	0	0	17087	1116	39	1	6109	1	USP9X	23	41075795	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3411439	41075795	114194765	1849	46582											
CDK16	5127	broad.mit.edu	37	chrX	47083076	47083076	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgagagtggtggtggtggCggcagtgaccctggagaggc	21	6	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:47083076C>T	uc004dho.2	+	2	516	c.120C>T	c.(118-120)GGC>GGT	p.G40G	CDK16_uc011mli.1_Silent_p.G46G|CDK16_uc011mlj.1_Silent_p.G40G|CDK16_uc011mlk.1_Silent_p.G40G|CDK16_uc011mll.1_Silent_p.G114G	NM_006201	NP_006192	Q00536	CDK16_HUMAN	PCTAIRE protein kinase 1 isoform 1	40							ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						GTGGTGGTGGCGGCAGTGACC	0.622													T	47083076	C	T	47083076	2	4	63	1	0	0	0	0	0	0	0	1	3132	755	27	1		1	CDK16	23	47083076	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	6007281	47083076	108187484	1850	46583											
SLC38A5	92745	broad.mit.edu	37	chrX	48325406	48325406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagccccaggatgccgctgCccatgatggcgttgctgagg	14	14	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:48325406C>T	uc010nid.2	-	5	366	c.188G>A	c.(187-189)GGC>GAC	p.G63D	SLC38A5_uc004djk.3_Missense_Mutation_p.G12D	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	63	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				ovary(3)	3						GATGCCGCTGCCCATGATGGC	0.617											OREG0019763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	48325406	C	T	48325406	3	4	63	1	0	0	0	0	1	0	0	0	14607	739	26	2	1282	2	SLC38A5	23	48325406	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1242330	48325406	106945154	1851	46584											
PORCN	64840	broad.mit.edu	37	chrX	48368302	48368302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttgaccagatctggctgCtccttgccatctgcctcgcc	9	17	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:48368302C>T	uc010nie.1	+	2	252	c.94C>T	c.(94-96)CTC>TTC	p.L32F	PORCN_uc004djq.1_Missense_Mutation_p.L145F|PORCN_uc004djr.1_Missense_Mutation_p.L32F|PORCN_uc004djs.1_Missense_Mutation_p.L32F|PORCN_uc004djt.1_5'UTR|PORCN_uc011mlx.1_5'UTR|PORCN_uc004dju.1_5'UTR|PORCN_uc004djv.1_Missense_Mutation_p.L32F|PORCN_uc004djw.1_Missense_Mutation_p.L32F	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	porcupine isoform D	32	Helical; (Potential).|Leu-rich.				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(2)|central_nervous_system(1)	3						GATCTGGCTGCTCCTTGCCAT	0.463													T	48368302	C	T	48368302	3	4	63	1	0	0	0	0	1	0	0	0	12258	797	28	2	96	2	PORCN	23	48368302	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	42896	48368302	106902258	1852	46585											
TFE3	7030	broad.mit.edu	37	chrX	48887952	48887953	+	Frame_Shift_Ins	INS	-	-	C													gggagcattctgggcaggtcINSccccccctacatggaacgtt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:48887951_48887952T>TC	uc004dmb.3	-	9	1683_1684	c.1445_1446A>GA	c.(1444-1446)ggafs	p.G482fs	TFE3_uc004dmc.3_Frame_Shift_Ins_p.G377fs	NM_006521	NP_006512	P19532	TFE3_HUMAN	Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA.	482					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"								C	48887953	-	C	48887952	7	5	63	1	0	1	1	0	0	0	0	0	15797	855	30	0	286	0	TFE3	23	48887952	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	519650	48887952	106382608	1853	46586											
DGKK	139189	broad.mit.edu	37	chrX	50213090	50213090	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgatggcgatggcgatggCgaggtctttagacctctctc	15	10	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:50213090C>T	uc010njr.1	-	1	648	c.588G>A	c.(586-588)TCG>TCA	p.S196S		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	196					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					atggcgatggcgaGGTCTTTA	0.463													T	50213090	C	T	50213090	2	4	63	1	0	0	0	0	0	0	0	1	4472	755	27	1		1	DGKK	23	50213090	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1325138	50213090	105057470	1854	46587											
GSPT2	23708	broad.mit.edu	37	chrX	51487453	51487453	+	Frame_Shift_Del	DEL	A	A	-													atatgaaagagaagctaaggAaaaaaacagagaaacctggt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:51487452_51487452GA>G	uc004dpl.3	+	0	972	c.730_730GA>G	c.(730-732)gaafs	p.E244fs		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	244					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					AGAAGCTAAGGAAAAAAACAG	0.428													-	51487453	A	-	51487453	7	5	63	1	0	1	0	1	0	0	0	0	6827	246	9	0	733	0	GSPT2	23	51487453	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	1274363	51487453	103783107	1855	46588											
SSX7	280658	broad.mit.edu	37	chrX	52682511	52682511	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctccttgcaaaggcgtcGtctccgttcatggcaccagg	12	13	3	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:52682511G>A	uc004dqx.1	-	2	171	c.12C>T	c.(10-12)GAC>GAT	p.D4D		NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			skin(1)	1	Ovarian(276;0.236)					CAAAGGCGTCGTCTCCGTTCA	0.547													A	52682511	G	A	52682511	2	1	63	1	0	0	0	0	0	0	0	1	15208	1136	40	1		1	SSX7	23	52682511	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1195058	52682511	102588049	1856	46589											
KDM5C	8242	broad.mit.edu	37	chrX	53241077	53241077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccaaaggcttctgggggCcgcttacactcctgaaaccc	10	14	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:53241077C>T	uc004drz.2	-	9	1667	c.1134G>A	c.(1132-1134)CGG>CGA	p.R378R	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Silent_p.R311R|KDM5C_uc004dsa.2_Silent_p.R377R	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	378					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						CTTCTGGGGGCCGCTTACACT	0.512			N|F|S		clear cell renal carcinoma								T	53241077	C	T	53241077	2	4	63	1	0	0	0	0	0	0	0	1	8135	726	26	2		2	KDM5C	23	53241077	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	558566	53241077	102029483	1857	46590											
KDM5C	8242	broad.mit.edu	37	chrX	53246351	53246351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagtctcttggcccgccGgccatagctgttgaacttgg	12	13	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:53246351G>A	uc004drz.2	-	5	1164	c.631C>T	c.(631-633)CGG>TGG	p.R211W	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.R144W|KDM5C_uc004dsa.2_Missense_Mutation_p.R210W	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	211					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						TTGGCCCGCCGGCCATAGCTG	0.532			N|F|S		clear cell renal carcinoma								A	53246351	G	A	53246351	3	1	63	1	0	0	0	0	1	0	0	0	8135	1115	39	1	4237	1	KDM5C	23	53246351	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	5274	53246351	102024209	1858	46591											
HUWE1	10075	broad.mit.edu	37	chrX	53566005	53566005	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctctcccgctctgtggcaTggaccagaaagaaggcctcg	12	13	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:53566005T>C	uc004dsp.2	-	76	12071	c.11669A>G	c.(11668-11670)CAT>CGT	p.H3890R	HUWE1_uc004dsn.2_Missense_Mutation_p.H2698R|HUWE1_uc004dsq.1_Missense_Mutation_p.H190R	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3890					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CTCTGTGGCATGGACCAGAAA	0.542													C	53566005	T	C	53566005	3	2	63	1	0	0	0	0	1	0	0	0	7461	1464	51	3	1491	3	HUWE1	23	53566005	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	319654	53566005	101704555	1859	46592											
WNK3	65267	broad.mit.edu	37	chrX	54278032	54278032	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgtggcaaagtggacaTgaaggatctcctgggcttga	13	7	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:54278032T>C	uc004dtd.1	-	14	2895	c.2456A>G	c.(2455-2457)CAT>CGT	p.H819R	WNK3_uc004dtc.1_Missense_Mutation_p.H819R	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	819					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						AAAGTGGACATGAAGGATCTC	0.418													C	54278032	T	C	54278032	3	2	63	1	0	0	0	0	1	0	0	0	17376	1464	51	3	2990	3	WNK3	23	54278032	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	712027	54278032	100992528	1860	46593											
FGD1	2245	broad.mit.edu	37	chrX	54472572	54472572	+	Frame_Shift_Del	DEL	G	G	-													tctcgggtctggggggattcGgggggttcagcagtggctcc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:54472572delG	uc004dtg.2	-	18	3590	c.2856delC	c.(2854-2856)CCCfs	p.P952fs		NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	952					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GGGGGGATTCGGGGGGTTCAG	0.642													-	54472572	G	-	54472572	7	5	63	1	0	1	0	1	0	0	0	0	5832	1103	39	0	33	0	FGD1	23	54472572	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	194540	54472572	100797988	1861	46594											
MAGED2	10916	broad.mit.edu	37	chrX	54836447	54836447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaaacagaatgctgaccCgcaggctgtgacaatgcctg	11	11	0	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:54836447C>T	uc004dtk.1	+	3	432	c.338C>T	c.(337-339)CCG>CTG	p.P113L	MAGED2_uc004dtl.1_Missense_Mutation_p.P113L|MAGED2_uc004dtm.1_Missense_Mutation_p.P75L|MAGED2_uc010nkc.1_Missense_Mutation_p.P113L|MAGED2_uc004dtn.1_Missense_Mutation_p.P113L|MAGED2_uc004dto.1_Missense_Mutation_p.P87L	NM_177433	NP_803182	Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	113										ovary(2)|breast(1)	3						AATGCTGACCCGCAGGCTGTG	0.527													T	54836447	C	T	54836447	3	4	63	1	0	0	0	0	1	0	0	0	9184	652	23	1	344	1	MAGED2	23	54836447	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	363875	54836447	100434113	1862	46595											
ZXDA	7789	broad.mit.edu	37	chrX	57935671	57935671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgataaatgtcttcttgcagCcagaaaacgcgcactggtaa	9	9	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:57935671C>T	uc004dve.2	-	1	1397	c.1184G>A	c.(1183-1185)GGC>GAC	p.G395D		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	395	C2H2-type 5.|Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						CTTCTTGCAGCCAGAAAACGC	0.572													T	57935671	C	T	57935671	3	4	63	1	0	0	0	0	1	0	0	0	18247	739	26	2	1219	2	ZXDA	23	57935671	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3099224	57935671	97334889	1863	46596											
MTMR8	55613	broad.mit.edu	37	chrX	63551494	63551494	+	Frame_Shift_Del	DEL	A	A	-													agtttccaaactggcaggagAaaacatggtcatgaatctcc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:63551494delA	uc004dvs.2	-	11	1363	c.1295delT	c.(1294-1296)TTCfs	p.F432fs	MTMR8_uc011mou.1_Intron|MTMR8_uc004dvt.1_Frame_Shift_Del_p.F432fs	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	432	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						CTGGCAGGAGAAAACATGGTC	0.438													-	63551494	A	-	63551494	7	5	63	1	0	1	0	1	0	0	0	0	9949	246	9	0	835	0	MTMR8	23	63551494	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	5615823	63551494	91719066	1864	46597											
STARD8	9754	broad.mit.edu	37	chrX	67941513	67941513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggaaaaccagatgacagCaggcaacctggcagtgtgcc	13	11	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:67941513C>T	uc004dxa.2	+	9	2516	c.2144C>T	c.(2143-2145)GCA>GTA	p.A715V	STARD8_uc004dxb.2_Missense_Mutation_p.A795V|STARD8_uc004dxc.3_Missense_Mutation_p.A715V	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	715	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6						CAGATGACAGCAGGCAACCTG	0.572													T	67941513	C	T	67941513	3	4	63	1	0	0	0	0	1	0	0	0	15262	710	25	2	2422	2	STARD8	23	67941513	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4390019	67941513	87329047	1865	46598											
FOXO4	4303	broad.mit.edu	37	chrX	70316610	70316610	+	Frame_Shift_Del	DEL	G	G	-													ctcggctcccagagccggccGggggcccccagcccggaatc							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:70316610delG	uc004dys.1	+	1	585	c.232delG	c.(232-234)GGGfs	p.G78fs	FOXO4_uc010nkz.2_Frame_Shift_Del_p.G78fs|FOXO4_uc004dyt.1_Intron	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	78					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(2)|prostate(1)	3	Renal(35;0.156)					AGAGCCGGCCGGGGGCCCCCA	0.662													-	70316610	G	-	70316610	7	5	63	1	0	1	0	1	0	0	0	0	6025	1116	39	0	234	0	FOXO4	23	70316610	Frame_Shift_Del	DEL	G	TCGA-BR-8078-01A-11D-2340-08	2375097	70316610	84953950	1866	46599											
ZMYM3	9203	broad.mit.edu	37	chrX	70468578	70468578	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctgcagaactggtagacTgtgcggtcaaccttgttgta	14	8	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:70468578T>G	uc004dzh.1	-	9	1782	c.1695A>C	c.(1693-1695)ACA>ACC	p.T565T	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Silent_p.T565T|ZMYM3_uc004dzj.1_Silent_p.T565T	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	565					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)					ACTGGTAGACTGTGCGGTCAA	0.537													G	70468578	T	G	70468578	2	3	63	1	0	0	0	0	0	0	0	1	17698	1567	55	5		5	ZMYM3	23	70468578	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	151968	70468578	84801982	1867	46600											
TAF1	6872	broad.mit.edu	37	chrX	70612474	70612474	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cattgctgccatgaagggcaAgtgtctgctagaggtgactg	14	8	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:70612474A>T	uc004dzu.3	+	19	2885	c.2834A>T	c.(2833-2835)AAG>ATG	p.K945M	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.K966M|TAF1_uc004dzv.3_Missense_Mutation_p.K119M	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	945					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				ATGAAGGGCAAGTGTCTGCTA	0.502													T	70612474	A	T	70612474	3	4	63	1	0	0	0	0	1	0	0	0	15510	72	3	5	2971	5	TAF1	23	70612474	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	143896	70612474	84658086	1868	46601											
CXCR3	2833	broad.mit.edu	37	chrX	70836494	70836495	+	Frame_Shift_Ins	INS	-	-	T													ggtccatgaggatgtccaccINSagcaccaccaggtgataggg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:70836494_70836495insT	uc004eaf.2	-	2	895_896	c.827_828insA	c.(826-828)CTGfs	p.L276fs	BCYRN1_uc011mpt.1_Intron|CXCR3_uc011mpx.1_Frame_Shift_Ins_p.L323fs	NM_001504	NP_001495	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3 isoform A	276	Helical; Name=6; (Potential).				cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			ovary(2)|central_nervous_system(1)	3	Renal(35;0.156)					GGATGTCCACCAGCACCACCAG	0.663													T	70836495	-	T	70836494	7	5	63	1	0	1	1	0	0	0	0	0	4092	581	21	0	282	0	CXCR3	23	70836494	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	224020	70836494	84434066	1869	46602	181	2									
CXCR3	2833	broad.mit.edu	37	chrX	70836495	70836496	+	Frame_Shift_Ins	INS	-	-	T													gtccatgaggatgtccaccaINSgcaccaccaggtgatagggg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:70836494_70836495C>CT	uc022bys.1	-	0	968_969	c.968_969G>AG	c.(967-969)ctgfs	p.L323fs	BCYRN1_uc011mpt.1_Intron|CXCR3_uc004eaf.3_Frame_Shift_Ins_p.L276fs|CXCR3_uc011mpx.2_Frame_Shift_Ins_p.L323fs	NM_001142797	NP_001136269	P49682	CXCR3_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 3 (CXCR3), transcript variant 2, mRNA.	276					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					GGATGTCCACCAGCACCACCAG	0.663													T	70836496	-	T	70836495	7	5	63	1	0	1	1	0	0	0	0	0	4092	188	7	0	283	0	CXCR3	23	70836495	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1	70836495	84434065	1870	46603	181	2									
ERCC6L	54821	broad.mit.edu	37	chrX	71428342	71428342	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcaaagagttggttgtgcAgttctcgataaagtagcaag	12	6	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:71428342A>G	uc004eaq.1	-	2	372	c.275T>C	c.(274-276)CTG>CCG	p.L92P	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_5'UTR	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	92					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)					TTGGTTGTGCAGTTCTCGATA	0.438													G	71428342	A	G	71428342	3	3	63	1	0	0	0	0	1	0	0	0	5218	188	7	3	3481	3	ERCC6L	23	71428342	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	591847	71428342	83842218	1871	46604											
RLIM	51132	broad.mit.edu	37	chrX	73811803	73811803	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccagaactactaccaccaccAgaacctcctcttccactccg	3	20	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:73811803A>T	uc004ebu.2	-	5	1637	c.1347T>A	c.(1345-1347)TCT>TCA	p.S449S	RLIM_uc004ebw.2_Silent_p.S449S	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	449	Ser-rich.				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TACCACCACCAGAACCTCCTC	0.284													T	73811803	A	T	73811803	2	4	63	1	0	0	0	0	0	0	0	1	13390	175	7	5		5	RLIM	23	73811803	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	2383461	73811803	81458757	1872	46605											
MAGEE1	57692	broad.mit.edu	37	chrX	75648366	75648366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgccgccgccgccgccgcGttgcaaaggctactgcgcac	13	19	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:75648366G>A	uc004ecm.1	+	1	250	c.43G>A	c.(43-45)GTT>ATT	p.V15I		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	15						dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						ccgccgccgcgTTGCAAAGGC	0.572													A	75648366	G	A	75648366	3	1	63	1	0	0	0	0	1	0	0	0	9185	1145	40	1	45	1	MAGEE1	23	75648366	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1836563	75648366	79622194	1873	46606											
CYSLTR1	10800	broad.mit.edu	37	chrX	77528566	77528566	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctatagcctttttatgactTgacagattttttttcattga	5	7	1	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:77528566T>C	uc004edb.2	-	3	1078	c.678A>G	c.(676-678)TCA>TCG	p.S226S	CYSLTR1_uc010nma.2_Silent_p.S226S|CYSLTR1_uc010nmb.2_Silent_p.S226S	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	226	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			ovary(1)	1					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TTTTATGACTTGACAGATTTT	0.323													C	77528566	T	C	77528566	2	2	63	1	0	0	0	0	0	0	0	1	4201	1799	63	3		3	CYSLTR1	23	77528566	Silent	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1880200	77528566	77741994	1874	46607											
BRWD3	254065	broad.mit.edu	37	chrX	79978170	79978171	+	Frame_Shift_Ins	INS	-	-	A													gatttccatcaacatccaccINSaaaaatggaggaggcatgag							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:79978170_79978171insA	uc004edt.2	-	17	2029_2030	c.1766_1767insT	c.(1765-1767)TTGfs	p.L589fs	BRWD3_uc004edo.2_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edp.2_Frame_Shift_Ins_p.L418fs|BRWD3_uc004edq.2_Frame_Shift_Ins_p.L185fs|BRWD3_uc010nmj.1_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edr.2_Frame_Shift_Ins_p.L259fs|BRWD3_uc004eds.2_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edu.2_Frame_Shift_Ins_p.L259fs|BRWD3_uc004edv.2_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edw.2_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edx.2_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edy.2_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edz.2_Frame_Shift_Ins_p.L259fs|BRWD3_uc004eea.2_Frame_Shift_Ins_p.L259fs|BRWD3_uc004eeb.2_Frame_Shift_Ins_p.L185fs	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	589										ovary(4)	4						CAACATCCACCAAAAATGGAGG	0.436													A	79978171	-	A	79978170	7	5	63	1	0	1	1	0	0	0	0	0	1526	593	21	0	3741	0	BRWD3	23	79978170	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	2449604	79978170	75292390	1875	46608	182	2									
BRWD3	254065	broad.mit.edu	37	chrX	79978171	79978172	+	Frame_Shift_Ins	INS	-	-	A													atttccatcaacatccaccaINSaaaatggaggaggcatgagg							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:79978170_79978171C>CA	uc004edt.3	-	16	2029_2030	c.1766_1767G>TG	c.(1765-1767)ttgfs	p.L589fs	BRWD3_uc004edp.3_Frame_Shift_Ins_p.L418fs|BRWD3_uc004edq.3_Frame_Shift_Ins_p.L185fs|BRWD3_uc010nmj.2_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edr.3_Frame_Shift_Ins_p.L259fs|BRWD3_uc004eds.3_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edo.3_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edu.3_Frame_Shift_Ins_p.L259fs|BRWD3_uc004edv.3_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edw.3_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edx.3_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edy.3_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edz.3_Frame_Shift_Ins_p.L259fs|BRWD3_uc004eea.3_Frame_Shift_Ins_p.L259fs|BRWD3_uc004eeb.3_Frame_Shift_Ins_p.L185fs	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	589										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CAACATCCACCAAAAATGGAGG	0.436													A	79978172	-	A	79978171	7	5	63	1	0	1	1	0	0	0	0	0	1526	131	5	0	3742	0	BRWD3	23	79978171	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	1	79978171	75292389	1876	46609	182	2									
POU3F4	5456	broad.mit.edu	37	chrX	82763842	82763842	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtgctccgagagcccccGgatcacggcgaactgggctc	14	16	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:82763842G>A	uc004eeg.2	+	1	574	c.510G>A	c.(508-510)CCG>CCA	p.P170P		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	170					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GAGAGCCCCCGGATCACGGCG	0.617													A	82763842	G	A	82763842	2	1	63	1	0	0	0	0	0	0	0	1	12277	1103	39	1		1	POU3F4	23	82763842	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2785671	82763842	72506718	1877	46610											
ZNF711	7552	broad.mit.edu	37	chrX	84510755	84510755	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttactataaaaaccgaagaTgatgatgatgatgatgtcaa	9	4	1	6			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:84510755T>A	uc004eeo.2	+	4	917	c.570T>A	c.(568-570)GAT>GAA	p.D190E	ZNF711_uc004eep.2_Missense_Mutation_p.D190E|ZNF711_uc004eeq.2_Missense_Mutation_p.D190E	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	190					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			ovary(3)|skin(1)	4						AAACCGAAGATGATGATGATG	0.358													A	84510755	T	A	84510755	3	1	63	1	0	0	0	0	1	0	0	0	18113	1461	51	5	576	5	ZNF711	23	84510755	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	1746913	84510755	70759805	1878	46611											
DACH2	117154	broad.mit.edu	37	chrX	85906124	85906124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcttcagggaaatggaagCcaaaatgggaccgaatcaga	11	8	3	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:85906124C>T	uc004eew.2	+	4	896	c.726C>T	c.(724-726)AGC>AGT	p.S242S	DACH2_uc004eex.2_Silent_p.S229S|DACH2_uc010nmq.2_Silent_p.S108S|DACH2_uc011mra.1_Silent_p.S75S|DACH2_uc010nmr.2_Silent_p.S23S	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						GAAATGGAAGCCAAAATGGGA	0.443													T	85906124	C	T	85906124	2	4	63	1	0	0	0	0	0	0	0	1	4221	738	26	2		2	DACH2	23	85906124	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1395369	85906124	69364436	1879	46612											
FAM133A	286499	broad.mit.edu	37	chrX	92964569	92964569	+	Frame_Shift_Del	DEL	A	A	-													taaagaaacaattagaaaatAaaaaaacaggttcaaaagca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:92964569delA	uc004efr.1	+	4	464	c.151delA	c.(151-153)AAAfs	p.K51fs		NM_173698	NP_775969	Q8N9E0	F133A_HUMAN	hypothetical protein LOC286499	51	Lys-rich.										0						ATTAGAAAATAAAAAAACAGG	0.348													-	92964569	A	-	92964569	7	5	63	1	0	1	0	1	0	0	0	0	5443	363	13	0	153	0	FAM133A	23	92964569	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	7058445	92964569	62305991	1880	46613											
DIAPH2	1730	broad.mit.edu	37	chrX	96212939	96212939	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctctacccggaggagctcCtcttcctcctccaccacctc	5	21	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:96212939C>A	uc004efu.3	+	16	2123	c.1727C>A	c.(1726-1728)CCT>CAT	p.P576H	DIAPH2_uc004eft.3_Missense_Mutation_p.P576H	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	576	Poly-Pro.|FH1.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						GGAGGAGCTCCTCTTCCTCCT	0.602													A	96212939	C	A	96212939	3	1	63	1	0	0	0	0	1	0	0	0	4519	681	24	5	1789	5	DIAPH2	23	96212939	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	3248370	96212939	59057621	1881	46614											
TSPAN6	7105	broad.mit.edu	37	chrX	99891687	99891687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtctccgagacggggacGccatgactagcccgagaccc	13	15	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:99891687G>A	uc004ega.1	-	1	108	c.5C>T	c.(4-6)GCG>GTG	p.A2V	TSPAN6_uc010nna.1_5'UTR	NM_003270	NP_003261	O43657	TSN6_HUMAN	transmembrane 4 superfamily member 6	2	Cytoplasmic (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			ovary(1)	1						AGACGGGGACGCCATGACTAG	0.557													A	99891687	G	A	99891687	3	1	63	1	0	0	0	0	1	0	0	0	16648	1087	38	1	760	1	TSPAN6	23	99891687	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3678748	99891687	55378873	1882	46615											
XKRX	402415	broad.mit.edu	37	chrX	100169733	100169733	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccagcatagaggatggtgActgaaatcaggaccaccaga	12	9	1	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:100169733A>G	uc004egn.2	-	3	1549	c.944T>C	c.(943-945)GTC>GCC	p.V315A	XKRX_uc011mre.1_Missense_Mutation_p.V111A	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	315	Helical; (Potential).					integral to membrane|plasma membrane				breast(1)	1						GAGGATGGTGACTGAAATCAG	0.507													G	100169733	A	G	100169733	3	3	63	1	0	0	0	0	1	0	0	0	17436	275	10	3	409	3	XKRX	23	100169733	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	278046	100169733	55100827	1883	46616											
BTK	695	broad.mit.edu	37	chrX	100613619	100613619	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcaccctgtggatttagcAaacacagacactgtatattt	6	10	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:100613619A>G	uc004ehg.2	-	11	1153	c.960T>C	c.(958-960)TTT>TTC	p.F320F	BTK_uc004ehf.2_5'Flank|BTK_uc010nnh.2_5'Flank|BTK_uc010nni.2_5'Flank|BTK_uc004ehe.2_5'Flank|BTK_uc010nnj.2_5'Flank|BTK_uc010nnk.2_5'Flank|BTK_uc010nnl.2_5'Flank|BTK_uc010nnm.2_5'Flank|BTK_uc010nnn.2_Silent_p.F320F|BTK_uc010nno.2_Silent_p.F354F|BTK_uc004ehh.1_5'Flank|BTK_uc004ehi.2_Silent_p.F320F	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	320	SH2.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			lung(3)|central_nervous_system(2)|ovary(1)	6						TGGATTTAGCAAACACAGACA	0.488									Agammaglobulinemia_X-linked				G	100613619	A	G	100613619	2	3	63	1	0	0	0	0	0	0	0	1	1557	127	5	3		3	BTK	23	100613619	Silent	SNP	A	TCGA-BR-8078-01A-11D-2340-08	443886	100613619	54656941	1884	46617											
ARMCX1	51309	broad.mit.edu	37	chrX	100809163	100809163	+	Frame_Shift_Del	DEL	T	T	-													agaattcagcagaagttcacTttttttcttattcaaagagt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:100809162_100809162CT>C	uc022cak.1	+	0	1249	c.1249_1249CT>C	c.(1249-1251)cttfs	p.L417fs	ARMCX1_uc004ehv.3_Frame_Shift_Del_p.L417fs|ARMCX1_uc004ehw.3_Frame_Shift_Del_p.L417fs	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	Homo sapiens armadillo repeat containing, X-linked 1 (ARMCX1), mRNA.	417						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						CAGAAGTTCACTTTTTTTCTT	0.333													-	100809163	T	-	100809163	7	5	63	1	0	1	0	1	0	0	0	0	959	1609	56	0	1252	0	ARMCX1	23	100809163	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	195544	100809163	54461397	1885	46618											
TMSB15A	11013	broad.mit.edu	37	chrX	101770012	101770012	+	Frame_Shift_Del	DEL	T	T	-													tttcctttgagggaagagtaTttttttcttcagtattagtt							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:101770011_101770011AT>A	uc004eje.3	-	1	204	c.81_81AT>T	c.(79-81)aatfs	p.N27fs		NM_021992	NP_919305	P0CG34	TB15A_HUMAN	Homo sapiens thymosin beta 15a (TMSB15A), mRNA.	27					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			large_intestine(1)|lung(1)	2						AGGGAAGAGTATTTTTTTCTT	0.373													-	101770012	T	-	101770012	7	5	63	1	0	1	0	1	0	0	0	0	16252	1493	52	0	65	0	TMSB15A	23	101770012	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	960849	101770012	53500548	1886	46619											
GPRASP2	114928	broad.mit.edu	37	chrX	101971768	101971768	+	Frame_Shift_Del	DEL	T	T	-													tcctctagagttaggacaagTtttttggaaaatatgattca							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:101971768delT	uc004ejk.2	+	4	3305	c.1971delT	c.(1969-1971)AGTfs	p.S657fs	GPRASP2_uc004ejl.2_Frame_Shift_Del_p.S657fs|GPRASP2_uc004ejm.2_Frame_Shift_Del_p.S657fs|GPRASP2_uc011mrp.1_5'UTR	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	657						cytoplasm	protein binding			ovary(1)	1						TTAGGACAAGTTTTTTGGAAA	0.378													-	101971768	T	-	101971768	7	5	63	1	0	1	0	1	0	0	0	0	6723	1722	60	0	1973	0	GPRASP2	23	101971768	Frame_Shift_Del	DEL	T	TCGA-BR-8078-01A-11D-2340-08	201756	101971768	53298792	1887	46620											
BHLHB9	80823	broad.mit.edu	37	chrX	102005119	102005119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggggatgaaagacaacGcaaaattgaattacatgtta	9	5	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:102005119G>A	uc010nog.2	+	4	1767	c.1196G>A	c.(1195-1197)CGC>CAC	p.R399H	BHLHB9_uc011mrq.1_Missense_Mutation_p.R399H|BHLHB9_uc011mrr.1_Missense_Mutation_p.R399H|BHLHB9_uc011mrs.1_Missense_Mutation_p.R399H|BHLHB9_uc011mrt.1_Missense_Mutation_p.R399H|BHLHB9_uc004ejo.2_Missense_Mutation_p.R399H|BHLHB9_uc011mru.1_Missense_Mutation_p.R399H|BHLHB9_uc011mrv.1_Missense_Mutation_p.R399H	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	399						cytoplasm|nucleus	binding			ovary(2)	2						GAAAGACAACGCAAAATTGAA	0.383													A	102005119	G	A	102005119	3	1	63	1	0	0	0	0	1	0	0	0	1420	1087	38	1	1198	1	BHLHB9	23	102005119	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	33351	102005119	53265441	1888	46621											
NRK	203447	broad.mit.edu	37	chrX	105197095	105197095	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgcgctctttgcaatccaGggttctggaaagtgagctga	13	8	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:105197095G>T	uc004emd.2	+	28	4886	c.4583G>T	c.(4582-4584)AGG>ATG	p.R1528M	NRK_uc011msi.1_Missense_Mutation_p.R109M	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1528	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						TTGCAATCCAGGGTTCTGGAA	0.453										HNSCC(51;0.14)			T	105197095	G	T	105197095	3	4	63	1	0	0	0	0	1	0	0	0	10655	1000	35	5	4693	5	NRK	23	105197095	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	3191976	105197095	50073465	1889	46622											
TEX13B	56156	broad.mit.edu	37	chrX	107224610	107224610	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctcctcccagcccctgcaaGacctctgcgggggcaggccc	11	20	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:107224610G>T	uc004enn.1	-	3	732	c.639C>A	c.(637-639)GTC>GTA	p.V213V		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	testis expressed 13B	213										ovary(1)	1						GCCCCTGCAAGACCTCTGCGG	0.607													T	107224610	G	T	107224610	2	4	63	1	0	0	0	0	0	0	0	1	15774	929	33	5		5	TEX13B	23	107224610	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2027515	107224610	48045950	1890	46623											
DCX	1641	broad.mit.edu	37	chrX	110654094	110654094	+	Frame_Shift_Del	DEL	A	A	-													aaatgaatccatagcctgacAaaattccccttgaagagaac							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:110654093_110654093CA>C	uc004epd.3	-	0	282	c.110_110TG>G	c.(109-111)tgtfs	p.C37fs	DCX_uc011msv.2_Frame_Shift_Del_p.C37fs|DCX_uc004epe.3_Intron|DCX_uc004epf.3_Intron|DCX_uc004epg.3_Intron	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	37					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CATAGCCTGACAAAATTCCCC	0.428													-	110654094	A	-	110654094	7	5	63	1	0	1	0	1	0	0	0	0	4318	130	5	0	1259	0	DCX	23	110654094	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	3429484	110654094	44616466	1891	46624											
PLS3	5358	broad.mit.edu	37	chrX	114869331	114869331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattaagatcggtttgttcGctgacattgaattaagcagg	10	6	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:114869331G>A	uc004eqd.2	+	7	1111	c.721G>A	c.(721-723)GCT>ACT	p.A241T	PLS3_uc010nqg.2_Intron|PLS3_uc011mtf.1_Missense_Mutation_p.A219T|PLS3_uc004eqe.2_Missense_Mutation_p.A241T|PLS3_uc011mtg.1_Missense_Mutation_p.A214T|PLS3_uc011mth.1_Missense_Mutation_p.A196T	NM_005032	NP_005023	P13797	PLST_HUMAN	plastin 3	241	Actin-binding 1.					cytoplasm	actin binding|calcium ion binding			lung(1)|breast(1)	2						CGGTTTGTTCGCTGACATTGA	0.423													A	114869331	G	A	114869331	3	1	63	1	0	0	0	0	1	0	0	0	12108	1087	38	1	743	1	PLS3	23	114869331	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	4215237	114869331	40401229	1892	46625											
NKAP	79576	broad.mit.edu	37	chrX	119068456	119068456	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataaaacttaaaaaactgaCgatctgtgtttcttcttctt	4	7	4	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:119068456C>T	uc004esh.2	-	5	904	c.737_splice	c.e5+1	p.S246_splice	NKAP_uc004esg.2_Splice_Site_p.S133_splice	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	NFKB activating protein						negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			ovary(2)	2						AAAAAACTGACGATCTGTGTT	0.184													T	119068456	C	T	119068456	5	4	63	1	0	0	0	0	0	0	1	0	10439	550	19	1	529	1	NKAP	23	119068456	Splice_Site	SNP	C	TCGA-BR-8078-01A-11D-2340-08	4199125	119068456	36202104	1893	46626											
FAM70A	55026	broad.mit.edu	37	chrX	119438315	119438315	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agcaaagtcacggtgacataGatggagtttcgtttcctccg	11	9	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:119438315G>C	uc004eso.3	-	2	317	c.90C>G	c.(88-90)ATC>ATG	p.I30M	FAM70A_uc004esp.3_Missense_Mutation_p.I30M|FAM70A_uc010nqo.2_Missense_Mutation_p.I30M	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	hypothetical protein LOC55026 isoform 1	30	Helical; (Potential).					integral to membrane				lung(1)|breast(1)	2						CGGTGACATAGATGGAGTTTC	0.433													C	119438315	G	C	119438315	3	2	63	1	0	0	0	0	1	0	0	0	5605	932	33	5	995	5	FAM70A	23	119438315	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	369859	119438315	35832245	1894	46627											
FAM70A	55026	broad.mit.edu	37	chrX	119445132	119445132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcgggcagggacatgtcGctggaccgctgctgagtcag	16	10	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:119445132G>A	uc004eso.3	-	1	260	c.33C>T	c.(31-33)AGC>AGT	p.S11S	FAM70A_uc004esp.3_Silent_p.S11S|FAM70A_uc010nqo.2_Silent_p.S11S	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	hypothetical protein LOC55026 isoform 1	11						integral to membrane				lung(1)|breast(1)	2						GGGACATGTCGCTGGACCGCT	0.672													A	119445132	G	A	119445132	2	1	63	1	0	0	0	0	0	0	0	1	5605	1078	38	1		1	FAM70A	23	119445132	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	6817	119445132	35825428	1895	46628											
GRIA3	2892	broad.mit.edu	37	chrX	122319770	122319770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaccaaccagaacaccaccGagaagcccttccatttgaat	5	15	0	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:122319770G>A	uc004etq.3	+	3	489	c.196G>A	c.(196-198)GAG>AAG	p.E66K	GRIA3_uc004etr.3_Missense_Mutation_p.E66K|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.E50K|GRIA3_uc010nqs.1_Missense_Mutation_p.E66K	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	66	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)	GAACACCACCGAGAAGCCCTT	0.458													A	122319770	G	A	122319770	3	1	63	1	0	0	0	0	1	0	0	0	6769	1059	37	1	202	1	GRIA3	23	122319770	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	2874638	122319770	32950790	1896	46629											
THOC2	57187	broad.mit.edu	37	chrX	122765540	122765540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaagacacttgtacttaccGaaatatgatgggcatacatt	7	8	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:122765540G>A	uc004etu.2	-	22	2512	c.2480C>T	c.(2479-2481)TCG>TTG	p.S827L	THOC2_uc011muh.1_Missense_Mutation_p.S752L	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	827					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						TGTACTTACCGAAATATGATG	0.393													A	122765540	G	A	122765540	3	1	63	1	0	0	0	0	1	0	0	0	15862	1072	37	1	2369	1	THOC2	23	122765540	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	445770	122765540	32505020	1897	46630											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298904	125298904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgttctgctggcgctggCgcggatccaggaaggagacg	18	9	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:125298904C>T	uc004euk.1	-	1	1031	c.1004G>A	c.(1003-1005)CGC>CAC	p.R335H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	335										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						CTGGCGCTGGCGCGGATCCAG	0.627													T	125298904	C	T	125298904	3	4	63	1	0	0	0	0	1	0	0	0	4265	768	27	1	391	1	DCAF12L2	23	125298904	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2533364	125298904	29971656	1898	46631											
ZDHHC9	51114	broad.mit.edu	37	chrX	128963037	128963037	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgaagctggtcctcaacAgtgtagccatggagaaaagg	12	9	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:128963037A>G	uc004euv.2	-	3	617	c.248T>C	c.(247-249)CTG>CCG	p.L83P	ZDHHC9_uc004euw.2_Missense_Mutation_p.L83P|ZDHHC9_uc004eux.1_Missense_Mutation_p.L83P|ZDHHC9_uc004euy.1_Missense_Mutation_p.L10P	NM_001008222	NP_001008223	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC domain containing 9	83	Helical; (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1						GGTCCTCAACAGTGTAGCCAT	0.522													G	128963037	A	G	128963037	3	3	63	1	0	0	0	0	1	0	0	0	17619	188	7	3	878	3	ZDHHC9	23	128963037	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	3664133	128963037	26307523	1899	46632											
FRMD7	90167	broad.mit.edu	37	chrX	131214037	131214038	+	Frame_Shift_Ins	INS	-	-	T													ttttcagaaaccttacttgtINStttgacacatcagagaggag							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:131214036_131214037G>GT	uc004ewn.3	-	10	1225_1226	c.1047_1048C>AC	c.(1045-1050)aaacaafs	p.K349fs	FRMD7_uc022cdy.1_Frame_Shift_Ins_p.K229fs|FRMD7_uc011muy.2_Frame_Shift_Ins_p.K334fs	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	349					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AACCTTACTTGTTTTGACACAT	0.396													T	131214038	-	T	131214037	7	5	63	1	0	1	1	0	0	0	0	0	6055	1722	60	0	1105	0	FRMD7	23	131214037	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	2251000	131214037	24056523	1900	46633											
TFDP3	51270	broad.mit.edu	37	chrX	132351559	132351559	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttgggcagcggccgctgGctgacctgctcctccacata	13	14	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:132351559G>A	uc004exb.1	-	1	818	c.729C>T	c.(727-729)AGC>AGT	p.S243S		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	243	Involved in negatively regulating E2F activity.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					GCGGCCGCTGGCTGACCTGCT	0.488													A	132351559	G	A	132351559	2	1	63	1	0	0	0	0	0	0	0	1	15796	1194	42	2		2	TFDP3	23	132351559	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1137522	132351559	22919001	1901	46634											
GPC4	2239	broad.mit.edu	37	chrX	132438841	132438841	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaacgttgctcggaagggAggaccagaatttcttggcct	13	9	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:132438841A>G	uc004exc.1	-	7	1416	c.1204T>C	c.(1204-1206)TCC>CCC	p.S402P	GPC4_uc011mvg.1_Missense_Mutation_p.S332P	NM_001448	NP_001439	O75487	GPC4_HUMAN	glypican 4 precursor	402					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	Acute lymphoblastic leukemia(192;0.000127)					CTCGGAAGGGAGGACCAGAAT	0.423													G	132438841	A	G	132438841	3	3	63	1	0	0	0	0	1	0	0	0	6600	304	11	3	478	3	GPC4	23	132438841	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	87282	132438841	22831719	1902	46635											
GPC4	2239	broad.mit.edu	37	chrX	132439828	132439828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaactagtgccagctgctGtggttgggcgttcctcgggg	15	11	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:132439828G>A	uc004exc.1	-	6	1339	c.1127C>T	c.(1126-1128)ACA>ATA	p.T376I	GPC4_uc011mvg.1_Missense_Mutation_p.T306I	NM_001448	NP_001439	O75487	GPC4_HUMAN	glypican 4 precursor	376					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	Acute lymphoblastic leukemia(192;0.000127)					GCCAGCTGCTGTGGTTGGGCG	0.517													A	132439828	G	A	132439828	3	1	63	1	0	0	0	0	1	0	0	0	6600	1377	48	4	559	4	GPC4	23	132439828	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	987	132439828	22830732	1903	46636											
GPR112	139378	broad.mit.edu	37	chrX	135426886	135426886	+	Frame_Shift_Del	DEL	A	A	-													acaatactaccaattccatgAaaaaaacgaaatctccatct							TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:135426885_135426885GA>G	uc004ezu.1	+	5	1311	c.1020_1020GA>G	c.(1018-1020)atgfs	p.M340fs	GPR112_uc010nsb.1_Frame_Shift_Del_p.M135fs|GPR112_uc010nsc.1_Frame_Shift_Del_p.M107fs	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	340					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S339S(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCAATTCCATGAAAAAAACGA	0.388													-	135426886	A	-	135426886	7	5	63	1	0	1	0	1	0	0	0	0	6629	247	9	0	1031	0	GPR112	23	135426886	Frame_Shift_Del	DEL	A	TCGA-BR-8078-01A-11D-2340-08	2987058	135426886	19843674	1904	46637											
ZIC3	7547	broad.mit.edu	37	chrX	136651098	136651098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaatttgaaggctgtgaCagacgctttgccaacagcag	12	8	0	4			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:136651098C>T	uc004fak.2	+	2	1603	c.1098C>T	c.(1096-1098)GAC>GAT	p.D366D		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	366	C2H2-type 4.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					AAGGCTGTGACAGACGCTTTG	0.502													T	136651098	C	T	136651098	2	4	63	1	0	0	0	0	0	0	0	1	17677	477	17	4		4	ZIC3	23	136651098	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	1224212	136651098	18619462	1905	46638											
FGF13	2258	broad.mit.edu	37	chrX	137939797	137939797	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattggatggaatcttgtcGtaacataatgtattcctgtg	10	5	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:137939797G>A	uc004faq.2	-	2	270	c.94C>T	c.(94-96)CGA>TGA	p.R32*	FGF13_uc011mwi.1_Nonsense_Mutation_p.R3*|FGF13_uc004far.2_Nonsense_Mutation_p.R3*|FGF13_uc011mwj.1_Nonsense_Mutation_p.R32*|FGF13_uc011mwk.1_Intron	NM_001139502	NP_001132974	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 3	Error:Variant_position_missing_in_Q92913_after_alignment					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GAATCTTGTCGTAACATAATG	0.463													A	137939797	G	A	137939797	4	1	63	1	0	0	0	0	0	1	0	0	5842	1153	40	1	916	1	FGF13	23	137939797	Nonsense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1288699	137939797	17330763	1906	46639											
SPANXC	64663	broad.mit.edu	37	chrX	140336519	140336519	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaacctaacaatcttacCgtctcattcacctcgttgga	5	13	4	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:140336519C>T	uc004fbk.2	-	1	128	c.72G>A	c.(70-72)ACG>ACA	p.T24T	SPANXC_uc004fbl.2_Intron	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	sperm protein associated with the nucleus, X	24						cytoplasm|nucleus					0	Acute lymphoblastic leukemia(192;7.65e-05)					acaATCTTACCGTCTCATTCA	0.269													T	140336519	C	T	140336519	2	4	63	1	0	0	0	0	0	0	0	1	14987	666	23	1		1	SPANXC	23	140336519	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	2396722	140336519	14934041	1907	46640											
MAGEC3	139081	broad.mit.edu	37	chrX	140985151	140985151	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacctcacctatgagggaaGcctgattgatgaccagggca	12	10	1	5			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:140985151G>T	uc011mwp.1	+	7	1607	c.1607G>T	c.(1606-1608)AGC>ATC	p.S536I	MAGEC3_uc004fbs.2_Missense_Mutation_p.S238I|MAGEC3_uc010nsj.2_Missense_Mutation_p.S238I	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	536	MAGE 2.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TATGAGGGAAGCCTGATTGAT	0.473													T	140985151	G	T	140985151	3	4	63	1	0	0	0	0	1	0	0	0	9182	971	34	5	1862	5	MAGEC3	23	140985151	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	648632	140985151	14285409	1908	46641											
MAGEC2	51438	broad.mit.edu	37	chrX	141291102	141291102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaggaggctgttctcgggCatgccctcatcatcactacc	9	14	5	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:141291102C>T	uc004fbu.1	-	3	1020	c.672G>A	c.(670-672)ATG>ATA	p.M224I		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	224	MAGE.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTCTCGGGCATGCCCTCAT	0.507										HNSCC(46;0.14)			T	141291102	C	T	141291102	3	4	63	1	0	0	0	0	1	0	0	0	9181	710	25	2	453	2	MAGEC2	23	141291102	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	305951	141291102	13979458	1909	46642											
CXorf40A	91966	broad.mit.edu	37	chrX	148627251	148627251	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatcaagactgtggagacGcgctggcgtcccctgctgag	15	11	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:148627251G>A	uc004fdb.2	+	4	347	c.75G>A	c.(73-75)ACG>ACA	p.T25T	CXorf40A_uc011mxm.1_Silent_p.T25T|CXorf40A_uc011mxn.1_Silent_p.T25T|CXorf40A_uc004fdd.2_Silent_p.T25T|CXorf40A_uc004fde.1_Silent_p.T25T|CXorf40A_uc011mxo.1_Missense_Mutation_p.A115T|CXorf40A_uc004fdg.2_Silent_p.T25T|CXorf40A_uc004fdf.2_Silent_p.T25T|CXorf40A_uc004fdh.2_Silent_p.T25T|CXorf40A_uc010nsy.2_Silent_p.T25T|CXorf40A_uc004fdi.2_Silent_p.T42T	NM_178124	NP_835225	Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40	25							protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTGTGGAGACGCGCTGGCGTC	0.617													A	148627251	G	A	148627251	2	1	63	1	0	0	0	0	0	0	0	1	4108	1074	38	1		1	CXorf40A	23	148627251	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	7336149	148627251	6643309	1910	46643											
MTM1	4534	broad.mit.edu	37	chrX	149814219	149814219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgcagtcagcctcttgtcGgtatgagtgggaaacgaaat	13	7	2	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:149814219G>A	uc004fef.3	+	9	818	c.742G>A	c.(742-744)GGT>AGT	p.G248S	MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.G211S|MTM1_uc011mxz.1_Missense_Mutation_p.G133S|MTM1_uc010nte.2_Missense_Mutation_p.G116S	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	248	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTCTTGTCGGTATGAGTGG	0.383													A	149814219	G	A	149814219	3	1	63	1	0	0	0	0	1	0	0	0	9937	1116	39	1	772	1	MTM1	23	149814219	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1186968	149814219	5456341	1911	46644											
MTMR1	8776	broad.mit.edu	37	chrX	149931081	149931081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgctggccgtcagggCggagctgcagaagcgtgtgg	20	9	1	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:149931081C>T	uc004fei.2	+	15	2012	c.1877C>T	c.(1876-1878)GCG>GTG	p.A626V	MTMR1_uc011mya.1_Missense_Mutation_p.A532V|MTMR1_uc004feh.1_Missense_Mutation_p.A634V|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_Intron	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	626						plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					GCCGTCAGGGCGGAGCTGCAG	0.637													T	149931081	C	T	149931081	3	4	63	1	0	0	0	0	1	0	0	0	9938	768	27	1	1935	1	MTMR1	23	149931081	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	116862	149931081	5339479	1912	46645											
GPR50	9248	broad.mit.edu	37	chrX	150348872	150348872	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatggcaggcaagatccccAactggctttatcttgcagcc	10	12	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:150348872A>C	uc010ntg.1	+	2	952	c.817A>C	c.(817-819)AAC>CAC	p.N273H	uc004fes.1_5'Flank|GPR50_uc011myc.1_Intron	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	273	Extracellular (Potential).				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGATCCCCAACTGGCTTTA	0.507													C	150348872	A	C	150348872	3	2	63	1	0	0	0	0	1	0	0	0	6697	130	5	5	823	5	GPR50	23	150348872	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	417791	150348872	4921688	1913	46646											
PRRG3	79057	broad.mit.edu	37	chrX	150869297	150869298	+	Frame_Shift_Ins	INS	-	-	G													gtggtgctggggcccagtcgINSggggggcaggaccacagtcc					rs139807152	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:150869296_150869297C>CG	uc022cgt.1	+	3	536_537	c.487_488C>CG	c.(487-489)cggfs	p.R163fs	PRRG3_uc004few.2_Frame_Shift_Ins_p.R163fs	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	163						extracellular region|integral to membrane	calcium ion binding	p.R163P(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGCCCAGTCGGGGGGGCAGG	0.673													G	150869298	-	G	150869297	7	5	63	1	0	1	1	0	0	0	0	0	12607	1116	39	0	498	0	PRRG3	23	150869297	Frame_Shift_Ins	INS	-	TCGA-BR-8078-01A-11D-2340-08	520425	150869297	4401263	1914	46647											
GABRA3	2556	broad.mit.edu	37	chrX	151532939	151532939	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacaaagtccccgggttctTgtcgtcttgattccccttga	8	13	3	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:151532939T>C	uc010ntk.1	-	2	344	c.104A>G	c.(103-105)CAA>CGA	p.Q35R		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	35	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCCGGGTTCTTGTCGTCTTGA	0.443													C	151532939	T	C	151532939	3	2	63	1	0	0	0	0	1	0	0	0	6162	1812	63	3	1410	3	GABRA3	23	151532939	Missense_Mutation	SNP	T	TCGA-BR-8078-01A-11D-2340-08	663642	151532939	3737621	1915	46648											
ATP2B3	492	broad.mit.edu	37	chrX	152807798	152807798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggcgacctgctgccagccGacggcgtgctcatccaggcc	13	16	1	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:152807798G>A	uc004fht.1	+	4	808	c.682G>A	c.(682-684)GAC>AAC	p.D228N	ATP2B3_uc004fhs.1_Missense_Mutation_p.D228N	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	228	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGCCAGCCGACGGCGTGCT	0.657													A	152807798	G	A	152807798	3	1	63	1	0	0	0	0	1	0	0	0	1141	1058	37	1	696	1	ATP2B3	23	152807798	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	1274859	152807798	2462762	1916	46649											
DUSP9	1852	broad.mit.edu	37	chrX	152915736	152915736	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacccccaccagtgatggCgccttcgagctggcccccac	9	20	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:152915736C>T	uc004fhx.3	+	4	1335	c.1131C>T	c.(1129-1131)GGC>GGT	p.G377G	DUSP9_uc004fhy.3_Silent_p.G377G	NM_001395	NP_001386	Q99956	DUS9_HUMAN	dual specificity phosphatase 9	377	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTGATGGCGCCTTCGAGC	0.736													T	152915736	C	T	152915736	2	4	63	1	0	0	0	0	0	0	0	1	4832	755	27	1		1	DUSP9	23	152915736	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	107938	152915736	2354824	1917	46650											
IDH3G	3421	broad.mit.edu	37	chrX	153052285	153052285	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccgcgtacacatggccatAgttggccccagccacaaggc	10	16	0	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:153052285A>G	uc004fip.2	-	10	1081	c.895T>C	c.(895-897)TAT>CAT	p.Y299H	IDH3G_uc004fio.2_Missense_Mutation_p.Y241H|IDH3G_uc004fiq.2_Missense_Mutation_p.Y299H|IDH3G_uc010num.2_Missense_Mutation_p.Y241H|IDH3G_uc004fir.2_Missense_Mutation_p.Y241H|IDH3G_uc004fit.1_Missense_Mutation_p.Y299H|IDH3G_uc004fis.2_Missense_Mutation_p.Y241H|IDH3G_uc004fiu.2_Missense_Mutation_p.Y75H	NM_004135	NP_004126	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma isoform	299					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	ACATGGCCATAGTTGGCCCCA	0.517													G	153052285	A	G	153052285	3	3	63	1	0	0	0	0	1	0	0	0	7498	420	15	3	365	3	IDH3G	23	153052285	Missense_Mutation	SNP	A	TCGA-BR-8078-01A-11D-2340-08	136549	153052285	2218275	1918	46651											
TKTL1	8277	broad.mit.edu	37	chrX	153549180	153549180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttgctgcctttctgactcGagcatttgatcacatccgga	8	12	2	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:153549180G>A	uc004fkg.2	+	8	1292	c.1106G>A	c.(1105-1107)CGA>CAA	p.R369Q	TKTL1_uc011mzl.1_Missense_Mutation_p.R363Q|TKTL1_uc011mzm.1_Missense_Mutation_p.R165Q|TKTL1_uc004fkh.2_Missense_Mutation_p.R313Q	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	369					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTTCTGACTCGAGCATTTGAT	0.517													A	153549180	G	A	153549180	3	1	63	1	0	0	0	0	1	0	0	0	15932	1058	37	1	1136	1	TKTL1	23	153549180	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	496895	153549180	1721380	1919	46652											
RPL10	6134	broad.mit.edu	37	chrX	153626868	153626868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggtgtcgccatgggccGccgccccgcccgttggtgag	15	16	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:153626868G>A	uc004fkm.2	+	2	196	c.8G>A	c.(7-9)CGC>CAC	p.R3H	uc010nuv.1_5'UTR|RPL10_uc004fko.2_Missense_Mutation_p.R3H|RPL10_uc004fkn.1_Missense_Mutation_p.R3H|RPL10_uc004fkp.1_Missense_Mutation_p.R3H|RPL10_uc004fkq.1_5'Flank|RPL10_uc004fkr.1_5'Flank|SNORA70_uc010nux.1_5'Flank	NM_006013	NP_006004	P27635	RL10_HUMAN	ribosomal protein L10	3					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCATGGGCCGCCGCCCCGCC	0.562													A	153626868	G	A	153626868	3	1	63	1	0	0	0	0	1	0	0	0	13554	1087	38	1	10	1	RPL10	23	153626868	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	77688	153626868	1643692	1920	46653											
SLC10A3	8273	broad.mit.edu	37	chrX	153716404	153716404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagccagtggcagccacCgtagagaggaaagtcatgga	14	8	1	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:153716404C>T	uc004flq.2	-	3	1140	c.876G>A	c.(874-876)ACG>ACA	p.T292T	UBL4A_uc004flo.2_5'Flank|SLC10A3_uc004flr.2_Silent_p.T263T|SLC10A3_uc004flp.2_Silent_p.T292T	NM_001142392	NP_001135864	P09131	P3_HUMAN	solute carrier family 10, member 3 isoform 1	292	Helical; (Potential).				organic anion transport	integral to membrane	bile acid:sodium symporter activity			ovary(1)|skin(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGCAGCCACCGTAGAGAGGA	0.617													T	153716404	C	T	153716404	2	4	63	1	0	0	0	0	0	0	0	1	14375	639	23	1		1	SLC10A3	23	153716404	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	89536	153716404	1554156	1921	46654											
SLC10A3	8273	broad.mit.edu	37	chrX	153716482	153716482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggtagctccccccgccGccaggcgacgagcaggtgat	14	14	0	2			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:153716482G>A	uc004flq.2	-	3	1062	c.798C>T	c.(796-798)GGC>GGT	p.G266G	UBL4A_uc004flo.2_5'Flank|SLC10A3_uc004flr.2_Silent_p.G237G|SLC10A3_uc004flp.2_Silent_p.G266G	NM_001142392	NP_001135864	P09131	P3_HUMAN	solute carrier family 10, member 3 isoform 1	266	Helical; (Potential).				organic anion transport	integral to membrane	bile acid:sodium symporter activity			ovary(1)|skin(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCCCCCGCCGCCAGGCGACG	0.607													A	153716482	G	A	153716482	2	1	63	1	0	0	0	0	0	0	0	1	14375	1074	38	1		1	SLC10A3	23	153716482	Silent	SNP	G	TCGA-BR-8078-01A-11D-2340-08	78	153716482	1554078	1922	46655											
CTAG2	30848	broad.mit.edu	37	chrX	153880696	153880696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctagctttctgcccctccGgggaggcggatcccagcccc	11	18	2	0			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:153880696G>A	uc004fmi.1	-	2	532	c.479C>T	c.(478-480)CCG>CTG	p.P160L	CTAG2_uc004fmh.1_Intron	NM_020994	NP_066274	O75638	CTAG2_HUMAN	cancer/testis antigen 2 isoform LAGE-1b	160						centrosome				pancreas(1)	1	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCCCCTCCGGGGAGGCGGA	0.632													A	153880696	G	A	153880696	3	1	63	1	0	0	0	0	1	0	0	0	3991	1116	39	1	296	1	CTAG2	23	153880696	Missense_Mutation	SNP	G	TCGA-BR-8078-01A-11D-2340-08	164214	153880696	1389864	1923	46656											
CTAG2	30848	broad.mit.edu	37	chrX	153880812	153880812	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggtgaagtccttcagaacCgcccctggtcgggggagagg	16	11	1	3			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:153880812C>T	uc004fmi.1	-	2	416	c.363G>A	c.(361-363)GCG>GCA	p.A121A	CTAG2_uc004fmh.1_Silent_p.A121A	NM_020994	NP_066274	O75638	CTAG2_HUMAN	cancer/testis antigen 2 isoform LAGE-1b	121						centrosome				pancreas(1)	1	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTTCAGAACCGCCCCTGGTC	0.647													T	153880812	C	T	153880812	2	4	63	1	0	0	0	0	0	0	0	1	3991	639	23	1		1	CTAG2	23	153880812	Silent	SNP	C	TCGA-BR-8078-01A-11D-2340-08	116	153880812	1389748	1924	46657											
GAB3	139716	broad.mit.edu	37	chrX	153944591	153944591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgccggaggacaaaccagCgcttgcgccaggcctgcaga	13	15	0	1			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:153944591C>T	uc004fmj.1	-	2	134	c.86G>A	c.(85-87)CGC>CAC	p.R29H	GAB3_uc004fmk.1_Missense_Mutation_p.R29H|GAB3_uc010nve.1_Missense_Mutation_p.R29H|GAB3_uc004fml.1_5'UTR	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN	Gab3 protein isoform 2	29	PH.									ovary(1)	1	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GACAAACCAGCGCTTGCGCCA	0.542													T	153944591	C	T	153944591	3	4	63	1	0	0	0	0	1	0	0	0	6150	768	27	1	1713	1	GAB3	23	153944591	Missense_Mutation	SNP	C	TCGA-BR-8078-01A-11D-2340-08	63779	153944591	1325969	1925	46658											
LPHN2	23266	broad.mit.edu	37	chr1	82421583	82421583	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aattgttgacacagtggacaAccttctgagacccgaagctt	9	10	1	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr1:82421583A>T	uc001dit.3	+	10	1986	c.1805A>T	c.(1804-1806)AAC>ATC	p.N602I	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.N602I|LPHN2_uc001div.2_Missense_Mutation_p.N602I|LPHN2_uc009wcd.2_Missense_Mutation_p.N602I|LPHN2_uc001diw.2_Missense_Mutation_p.N186I	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	615	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACAGTGGACAACCTTCTGAGA	0.388													T	82421583	A	T	82421583	3	4	64	1	0	0	0	0	1	0	0	0	8916	43	2	5	1835	5	LPHN2	1	82421583	Missense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08		82421583	166829038	1	46659											
PKN2	5586	broad.mit.edu	37	chr1	89273385	89273385	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcttttagctgaatatAaaaacacaaatgagatgttt	8	4	0	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr1:89273385A>T	uc001dmn.2	+	15	2371	c.2029A>T	c.(2029-2031)AAA>TAA	p.K677*	PKN2_uc010osp.1_Nonsense_Mutation_p.K661*|PKN2_uc010osq.1_Nonsense_Mutation_p.K520*|PKN2_uc009wcv.2_Nonsense_Mutation_p.K629*|PKN2_uc010osr.1_Nonsense_Mutation_p.K342*	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	677	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		AGCTGAATATAAAAACACAAA	0.264													T	89273385	A	T	89273385	4	4	64	1	0	0	0	0	0	1	0	0	11980	363	13	5	2087	5	PKN2	1	89273385	Nonsense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08	6851802	89273385	159977236	2	46660											
LASS2	29956	broad.mit.edu	37	chr1	150940919	150940919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaaatgttccaaggtggcGttgggaggtgcccgcagccg	16	9	0	1	rs143495079	byFrequency	TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr1:150940919G>A	uc001evy.2	-	3	630	c.243C>T	c.(241-243)AAC>AAT	p.N81N	LASS2_uc001evz.2_Silent_p.N81N|LASS2_uc009wmh.2_Translation_Start_Site	NM_181746	NP_859530	Q96G23	CERS2_HUMAN	LAG1 longevity assurance 2	81	Cytoplasmic (Potential).|Homeobox.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity				0	all_lung(15;8.07e-35)|Lung NSC(24;7.93e-31)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCAAGGTGGCGTTGGGAGGTG	0.557													A	150940919	G	A	150940919	2	1	64	1	0	0	0	0	0	0	0	1	8639	1136	40	1		1	LASS2	1	150940919	Silent	SNP	G	TCGA-BR-8080-01A-11D-2340-08	61667534	150940919	98309702	3	46661											
IQGAP3	128239	broad.mit.edu	37	chr1	156524092	156524092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaccaggctgctccagaaGccactggcatcccgggcctc	10	17	1	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr1:156524092G>A	uc001fpf.2	-	13	1458	c.1383C>T	c.(1381-1383)GGC>GGT	p.G461G	IQGAP3_uc009wsb.1_Silent_p.G418G	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	461					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGCTCCAGAAGCCACTGGCAT	0.607													A	156524092	G	A	156524092	2	1	64	1	0	0	0	0	0	0	0	1	7816	958	34	2		2	IQGAP3	1	156524092	Silent	SNP	G	TCGA-BR-8080-01A-11D-2340-08	5583173	156524092	92726529	4	46662											
CD1C	911	broad.mit.edu	37	chr1	158261141	158261141	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatttcgtttctacctcttTggattaactcgggagattca	7	8	3	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr1:158261141T>C	uc001fru.2	+	2	571	c.279T>C	c.(277-279)TTT>TTC	p.F93F	CD1C_uc001frv.2_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	93	Extracellular (Potential).				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					TCTACCTCTTTGGATTAACTC	0.378													C	158261141	T	C	158261141	2	2	64	1	0	0	0	0	0	0	0	1	2976	1809	63	3		3	CD1C	1	158261141	Silent	SNP	T	TCGA-BR-8080-01A-11D-2340-08	1737049	158261141	90989480	5	46663											
SPTA1	6708	broad.mit.edu	37	chr1	158595998	158595998	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attgccattggtctttaggcTtgtttccttatcagctaaaa	7	8	2	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr1:158595998T>G	uc001fst.1	-	42	6047	c.5848A>C	c.(5848-5850)AGC>CGC	p.S1950R		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1950	Spectrin 19.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GTCTTTAGGCTTGTTTCCTTA	0.408													G	158595998	T	G	158595998	3	3	64	1	0	0	0	0	1	0	0	0	15115	1609	56	5	1455	5	SPTA1	1	158595998	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	334857	158595998	90654623	6	46664											
SPTA1	6708	broad.mit.edu	37	chr1	158606546	158606546	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagctcactcgtatcaacTtctccctaaaatcaaggaag	8	11	4	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr1:158606546T>G	uc001fst.1	-	37	5394	c.5195A>C	c.(5194-5196)AAG>ACG	p.K1732T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1732	Spectrin 17.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCGTATCAACTTCTCCCTAAA	0.473													G	158606546	T	G	158606546	3	3	64	1	0	0	0	0	1	0	0	0	15115	1609	56	5	2128	5	SPTA1	1	158606546	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	10548	158606546	90644075	7	46665											
LMX1A	4009	broad.mit.edu	37	chr1	165182992	165182992	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtccttgccttcctcagcAgttcctttccctgccccatg	7	17	1	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr1:165182992A>G	uc001gcy.1	-	4	776	c.555T>C	c.(553-555)ACT>ACC	p.T185T	LMX1A_uc001gcz.1_Silent_p.T185T|LMX1A_uc001gcw.1_5'Flank|LMX1A_uc001gcx.1_5'Flank	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	185						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	all_hematologic(923;0.248)					CTTCCTCAGCAGTTCCTTTCC	0.488													G	165182992	A	G	165182992	2	3	64	1	0	0	0	0	0	0	0	1	8861	175	7	3		3	LMX1A	1	165182992	Silent	SNP	A	TCGA-BR-8080-01A-11D-2340-08	6576446	165182992	84067629	8	46666											
ASPM	259266	broad.mit.edu	37	chr1	197111713	197111713	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttacctcgtttttataacTcttagatttacttaatattg	4	6	1	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr1:197111713T>A	uc001gtu.2	-	3	1926	c.1669A>T	c.(1669-1671)AGT>TGT	p.S557C	ASPM_uc001gtv.2_Missense_Mutation_p.S557C|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	557					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TTTTTATAACTCTTAGATTTA	0.343													A	197111713	T	A	197111713	3	1	64	1	0	0	0	0	1	0	0	0	1056	1551	54	5	8868	5	ASPM	1	197111713	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	31928721	197111713	52138908	9	46667											
PTPRC	5788	broad.mit.edu	37	chr1	198711490	198711490	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagatgcctgatggttcaAgtagaggtatgttctaacct	11	7	2	3			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr1:198711490A>C	uc001gur.1	+	25	2865	c.2685A>C	c.(2683-2685)CAA>CAC	p.Q895H	PTPRC_uc001gus.1_Missense_Mutation_p.Q847H|PTPRC_uc001gut.1_Missense_Mutation_p.Q734H	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	895	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.	Substrate (By similarity).			axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						TGATGGTTCAAGTAGAGGTAT	0.363													C	198711490	A	C	198711490	3	2	64	1	0	0	0	0	1	0	0	0	12797	69	3	5	2790	5	PTPRC	1	198711490	Missense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08	1599777	198711490	50539131	10	46668											
MYBPH	4608	broad.mit.edu	37	chr1	203144565	203144565	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcacatcatccagggtcAgcagcagtggggcactgggg	15	11	3	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr1:203144565A>G	uc001gzh.1	-	2	289	c.230T>C	c.(229-231)CTG>CCG	p.L77P	FMOD_uc010pqi.1_Intron	NM_004997	NP_004988	Q13203	MYBPH_HUMAN	myosin binding protein H	77	Fibronectin type-III 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle				0			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		ATCCAGGGTCAGCAGCAGTGG	0.652													G	203144565	A	G	203144565	3	3	64	1	0	0	0	0	1	0	0	0	10014	188	7	3	1239	3	MYBPH	1	203144565	Missense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08	4433075	203144565	46106056	11	46669											
ESRRG	2104	broad.mit.edu	37	chr1	216692701	216692701	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatacgacaccaaggatcaAaatttccatccaagcactct	5	12	2	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr1:216692701A>C	uc001hkw.1	-	6	1091	c.925T>G	c.(925-927)TTG>GTG	p.L309V	ESRRG_uc001hky.1_Missense_Mutation_p.L286V|ESRRG_uc009xdp.1_Missense_Mutation_p.L286V|ESRRG_uc001hkz.1_Missense_Mutation_p.L247V|ESRRG_uc010puc.1_Missense_Mutation_p.L286V|ESRRG_uc001hla.1_Missense_Mutation_p.L286V|ESRRG_uc001hlb.1_Missense_Mutation_p.L286V|ESRRG_uc010pud.1_Missense_Mutation_p.L117V|ESRRG_uc001hlc.1_Missense_Mutation_p.L286V|ESRRG_uc001hld.1_Missense_Mutation_p.L286V|ESRRG_uc001hkx.1_Missense_Mutation_p.L321V|ESRRG_uc009xdo.1_Missense_Mutation_p.L286V|ESRRG_uc001hle.1_Missense_Mutation_p.L286V	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	309					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CCAAGGATCAAAATTTCCATC	0.473													C	216692701	A	C	216692701	3	2	64	1	0	0	0	0	1	0	0	0	5262	11	1	5	459	5	ESRRG	1	216692701	Missense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08	13548136	216692701	32557920	12	46670											
ALK	238	broad.mit.edu	37	chr2	29416759	29416759	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaagtggaccatattctatCggcaaagcggtgttgattac	10	8	1	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr2:29416759C>T	uc002rmy.2	-	29	5101	c.4194G>A	c.(4192-4194)CCG>CCA	p.P1398P	ALK_uc010ymo.1_Silent_p.P330P	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	1398	Cytoplasmic (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CATATTCTATCGGCAAAGCGG	0.398			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				T	29416759	C	T	29416759	2	4	64	1	0	0	0	0	0	0	0	1	525	871	31	1		1	ALK	2	29416759	Silent	SNP	C	TCGA-BR-8080-01A-11D-2340-08		29416759	213782614	13	46671											
PCBP1	5093	broad.mit.edu	37	chr2	70315122	70315122	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcgacaagctggaggaagatAtcaacagctccatgaccaac	9	11	1	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr2:70315122A>T	uc002sgf.2	+	1	538	c.247A>T	c.(247-249)ATC>TTC	p.I83F	ASPRV1_uc002sga.2_5'Flank|uc002sgb.1_5'Flank|uc002sgd.2_5'Flank|uc002sge.1_5'Flank	NM_006196	NP_006187	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	83					nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding				0						GGAGGAAGATATCAACAGCTC	0.592													T	70315122	A	T	70315122	3	4	64	1	0	0	0	0	1	0	0	0	11500	449	16	5	249	5	PCBP1	2	70315122	Missense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08	40898363	70315122	172884251	14	46672											
DPP10	57628	broad.mit.edu	37	chr2	116503686	116503686	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagtgaacccaacaataAaattatatgttgtaaacctg	6	7	1	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr2:116503686A>T	uc002tla.1	+	10	1334	c.877A>T	c.(877-879)AAA>TAA	p.K293*	DPP10_uc002tlb.1_Nonsense_Mutation_p.K243*|DPP10_uc002tlc.1_Nonsense_Mutation_p.K289*|DPP10_uc002tle.2_Nonsense_Mutation_p.K297*|DPP10_uc002tlf.1_Nonsense_Mutation_p.K286*	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	293	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						CCCAACAATAAAATTATATGT	0.333													T	116503686	A	T	116503686	4	4	64	1	0	0	0	0	0	1	0	0	4727	15	1	5	1086	5	DPP10	2	116503686	Nonsense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08	46188564	116503686	126695687	15	46673											
LRP1B	53353	broad.mit.edu	37	chr2	140995737	140995737	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacctttgttgggtctatcAtaaagccaggatctaaaaga	8	8	3	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr2:140995737A>C	uc002tvj.1	-	89	14516	c.13544T>G	c.(13543-13545)ATG>AGG	p.M4515R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4515	Cytoplasmic (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGGTCTATCATAAAGCCAGG	0.373										TSP Lung(27;0.18)			C	140995737	A	C	140995737	3	2	64	1	0	0	0	0	1	0	0	0	8955	217	8	5	267	5	LRP1B	2	140995737	Missense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08	24492051	140995737	102203636	16	46674											
LRP1B	53353	broad.mit.edu	37	chr2	141093238	141093238	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccagccatatttgttaagAgtctggtgcagttggggcca	12	9	1	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr2:141093238A>G	uc002tvj.1	-	78	13034	c.12062T>C	c.(12061-12063)CTC>CCC	p.L4021P		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4021	Extracellular (Potential).|LDL-receptor class B 34.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTTGTTAAGAGTCTGGTGCA	0.413										TSP Lung(27;0.18)			G	141093238	A	G	141093238	3	3	64	1	0	0	0	0	1	0	0	0	8955	304	11	3	1793	3	LRP1B	2	141093238	Missense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08	97501	141093238	102106135	17	46675											
SCN3A	6328	broad.mit.edu	37	chr2	166003271	166003271	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaggggagcagaattttTtgtcactggtcagtctgttt	13	5	3	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr2:166003271T>C	uc002ucx.2	-	12	2141	c.1649A>G	c.(1648-1650)AAA>AGA	p.K550R	SCN3A_uc002ucy.2_Missense_Mutation_p.K550R|SCN3A_uc002ucz.2_Missense_Mutation_p.K550R|SCN3A_uc002uda.1_Missense_Mutation_p.K419R|SCN3A_uc002udb.1_Missense_Mutation_p.K419R	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	550						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	GCAGAATTTTTTGTCACTGGT	0.398													C	166003271	T	C	166003271	3	2	64	1	0	0	0	0	1	0	0	0	13918	1841	64	3	4421	3	SCN3A	2	166003271	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	24910033	166003271	77196102	18	46676											
HOXD10	3236	broad.mit.edu	37	chr2	176981726	176981726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacctgtggactgctcccGtctctggccaaaagagaagt	10	12	1	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr2:176981726G>A	uc002ukj.2	+	1	235	c.165G>A	c.(163-165)CCG>CCA	p.P55P		NM_002148	NP_002139	P28358	HXD10_HUMAN	homeobox D10	55						nucleus	sequence-specific DNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GACTGCTCCCGTCTCTGGCCA	0.488													A	176981726	G	A	176981726	2	1	64	1	0	0	0	0	0	0	0	1	7319	1132	40	1		1	HOXD10	2	176981726	Silent	SNP	G	TCGA-BR-8080-01A-11D-2340-08	10978455	176981726	66217647	19	46677											
TTN	7273	broad.mit.edu	37	chr2	179413171	179413171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgataacctgccaactaCggcgacttgcctctcgtttc	7	15	1	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr2:179413171C>T	uc010zfg.1	-	288	85702	c.85478G>A	c.(85477-85479)CGT>CAT	p.R28493H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R22188H|TTN_uc010zfi.1_Missense_Mutation_p.R22121H|TTN_uc010zfj.1_Missense_Mutation_p.R21996H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29420							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCCAACTACGGCGACTTGC	0.498													T	179413171	C	T	179413171	3	4	64	1	0	0	0	0	1	0	0	0	16732	536	19	1	14893	1	TTN	2	179413171	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	2431445	179413171	63786202	20	46678											
TTN	7273	broad.mit.edu	37	chr2	179424681	179424681	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaccaaccttattgacagaTtttactctgaaaacatattc	4	10	1	3			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr2:179424681T>G	uc010zfg.1	-	275	78698	c.78474A>C	c.(78472-78474)AAA>AAC	p.K26158N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K19853N|TTN_uc010zfi.1_Missense_Mutation_p.K19786N|TTN_uc010zfj.1_Missense_Mutation_p.K19661N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27085							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTGACAGATTTTACTCTGA	0.403													G	179424681	T	G	179424681	3	3	64	1	0	0	0	0	1	0	0	0	16732	1490	52	5	21949	5	TTN	2	179424681	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	11510	179424681	63774692	21	46679											
TTN	7273	broad.mit.edu	37	chr2	179439187	179439187	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cataagcaataccatctgtaAgtccacttgatttgaaaatg	6	8	1	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr2:179439187A>G	uc010zfg.1	-	275	64192	c.63968T>C	c.(63967-63969)CTT>CCT	p.L21323P	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L15018P|TTN_uc010zfi.1_Missense_Mutation_p.L14951P|TTN_uc010zfj.1_Missense_Mutation_p.L14826P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22250							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCATCTGTAAGTCCACTTGA	0.418													G	179439187	A	G	179439187	3	3	64	1	0	0	0	0	1	0	0	0	16732	72	3	3	36455	3	TTN	2	179439187	Missense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08	14506	179439187	63760186	22	46680											
TTN	7273	broad.mit.edu	37	chr2	179600580	179600580	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttggaagccttacaagaatAaactcctctatcttgaatgg	8	8	2	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr2:179600580A>G	uc010zfg.1	-	47	11085	c.10861T>C	c.(10861-10863)TAT>CAT	p.Y3621H	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Y282H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4548							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACAAGAATAAACTCCTCTA	0.413													G	179600580	A	G	179600580	3	3	64	1	0	0	0	0	1	0	0	0	16732	362	13	3	90188	3	TTN	2	179600580	Missense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08	161393	179600580	63598793	23	46681											
ZDBF2	57683	broad.mit.edu	37	chr2	207172843	207172843	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaatcaatgttgtggttcTgaagtaagttttgattctga	9	5	3	3			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr2:207172843T>C	uc002vbp.2	+	5	3841	c.3591T>C	c.(3589-3591)TCT>TCC	p.S1197S		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1197							nucleic acid binding|zinc ion binding			ovary(3)	3						GTTGTGGTTCTGAAGTAAGTT	0.418													C	207172843	T	C	207172843	2	2	64	1	0	0	0	0	0	0	0	1	17596	1567	55	3		3	ZDBF2	2	207172843	Silent	SNP	T	TCGA-BR-8080-01A-11D-2340-08	27572263	207172843	36026530	24	46682											
DAG1	1605	broad.mit.edu	37	chr3	49568587	49568587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgacctcctgcacaggatgCggagcttctcagaagtagag	12	10	1	3			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr3:49568587C>T	uc003cxc.3	+	3	1061	c.643C>T	c.(643-645)CGG>TGG	p.R215W		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	215	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GCACAGGATGCGGAGCTTCTC	0.507													T	49568587	C	T	49568587	3	4	64	1	0	0	0	0	1	0	0	0	4225	759	27	1	649	1	DAG1	3	49568587	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08		49568587	148453843	25	46683											
LRTM1	57408	broad.mit.edu	37	chr3	54958847	54958847	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggatgtgggaaggtggcTtatgttgtttgatgacaaat	14	3	0	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr3:54958847T>C	uc003dhl.2	-	2	537	c.403A>G	c.(403-405)AGC>GGC	p.S135G	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	135	LRR 4.|Extracellular (Potential).					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GGAAGGTGGCTTATGTTGTTT	0.473													C	54958847	T	C	54958847	3	2	64	1	0	0	0	0	1	0	0	0	9044	1609	56	3	642	3	LRTM1	3	54958847	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	5390260	54958847	143063583	26	46684											
FLNB	2317	broad.mit.edu	37	chr3	58109299	58109299	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccctgacggccggcatgtaCacgttgaccatgaagtatgg	12	12	0	3			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr3:58109299C>G	uc003djj.2	+	21	3771	c.3606C>G	c.(3604-3606)TAC>TAG	p.Y1202*	FLNB_uc010hne.2_Nonsense_Mutation_p.Y1202*|FLNB_uc003djk.2_Nonsense_Mutation_p.Y1202*|FLNB_uc010hnf.2_Nonsense_Mutation_p.Y1202*|FLNB_uc003djl.2_Nonsense_Mutation_p.Y1033*|FLNB_uc003djm.2_Nonsense_Mutation_p.Y1033*	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	1202	Interaction with FBLP1.|Filamin 10.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCGGCATGTACACGTTGACCA	0.577													G	58109299	C	G	58109299	4	3	64	1	0	0	0	0	0	1	0	0	5934	489	17	5	3688	5	FLNB	3	58109299	Nonsense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	3150452	58109299	139913131	27	46685											
OR5H14	403273	broad.mit.edu	37	chr3	97868494	97868494	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatcaacttcttagctaagAgtaagatgatatctctctct	6	8	4	4			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr3:97868494A>G	uc003dsg.1	+	1	265	c.265A>G	c.(265-267)AGT>GGT	p.S89G		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H,	89	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CTTAGCTAAGAGTAAGATGAT	0.388													G	97868494	A	G	97868494	3	3	64	1	0	0	0	0	1	0	0	0	11160	304	11	3	267	3	OR5H14	3	97868494	Missense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08	39759195	97868494	100153936	28	46686											
AMOTL2	51421	broad.mit.edu	37	chr3	134080535	134080535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgagctgcccggccctgcGcattgcccagagcctgctcc	11	19	0	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr3:134080535G>A	uc003eqf.2	-	6	1685	c.1568C>T	c.(1567-1569)GCG>GTG	p.A523V	AMOTL2_uc003eqg.1_Missense_Mutation_p.A465V|AMOTL2_uc003eqh.1_Missense_Mutation_p.A465V|AMOTL2_uc003eqe.1_Missense_Mutation_p.A90V	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	465	Potential.									large_intestine(1)	1						CCGGCCCTGCGCATTGCCCAG	0.682													A	134080535	G	A	134080535	3	1	64	1	0	0	0	0	1	0	0	0	584	1087	38	1	968	1	AMOTL2	3	134080535	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	36212041	134080535	63941895	29	46687											
PLD1	5337	broad.mit.edu	37	chr3	171330103	171330103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaagtcctcgggcaaaccGgccagcttggtactcttttc	10	14	1	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr3:171330103G>A	uc003fhs.2	-	25	2964	c.2848C>T	c.(2848-2850)CGG>TGG	p.R950W	PLD1_uc003fht.2_Missense_Mutation_p.R912W|PLD1_uc003fhu.3_Missense_Mutation_p.R244W	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	950					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CGGGCAAACCGGCCAGCTTGG	0.542													A	171330103	G	A	171330103	3	1	64	1	0	0	0	0	1	0	0	0	12045	1115	39	1	388	1	PLD1	3	171330103	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	37249568	171330103	26692327	30	46688											
GAK	2580	broad.mit.edu	37	chr4	861053	861053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtcctgctgcaccagccCtgctgccaggccggggggct	14	16	0	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr4:861053C>T	uc003gbm.3	-	21	2762	c.2563G>A	c.(2563-2565)GGG>AGG	p.G855R	GAK_uc003gbn.3_Missense_Mutation_p.G776R|GAK_uc010ibk.1_Missense_Mutation_p.G749R|GAK_uc010ibi.2_Missense_Mutation_p.G36R|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.G719R	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	855					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		TGCACCAGCCCTGCTGCCAGG	0.662													T	861053	C	T	861053	3	4	64	1	0	0	0	0	1	0	0	0	6195	681	24	4	1404	4	GAK	4	861053	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08		861053	190293223	31	46689											
TADA2B	93624	broad.mit.edu	37	chr4	7056285	7056285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggaggagaaggagctgcGcctgaagctgaggccgctgt	17	9	0	3			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr4:7056285G>A	uc003gjw.3	+	2	918	c.767G>A	c.(766-768)CGC>CAC	p.R256H	TADA2B_uc010idi.2_Missense_Mutation_p.R181H	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2 (ADA2 homolog,	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding				0						AAGGAGCTGCGCCTGAAGCTG	0.522													A	7056285	G	A	7056285	3	1	64	1	0	0	0	0	1	0	0	0	15508	1087	38	1	773	1	TADA2B	4	7056285	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	6195232	7056285	184097991	32	46690											
PCDH7	5099	broad.mit.edu	37	chr4	30724803	30724803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggatctttgccatcgatcccGattctggggacatcctggtc	11	12	2	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr4:30724803G>A	uc003gsk.1	+	1	2767	c.1759G>A	c.(1759-1761)GAT>AAT	p.D587N	PCDH7_uc011bxw.1_Missense_Mutation_p.D540N|PCDH7_uc011bxx.1_Missense_Mutation_p.D587N	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	587	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						CATCGATCCCGATTCTGGGGA	0.572													A	30724803	G	A	30724803	3	1	64	1	0	0	0	0	1	0	0	0	11516	1058	37	1	1761	1	PCDH7	4	30724803	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	23668518	30724803	160429473	33	46691											
GRXCR1	389207	broad.mit.edu	37	chr4	42895621	42895621	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaggcgtcaaatacaaagTgagtgctggccaggctctat	12	9	2	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr4:42895621T>C	uc003gwt.2	+	1	338	c.338T>C	c.(337-339)GTG>GCG	p.V113A		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	113					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1						AAATACAAAGTGAGTGCTGGC	0.428													C	42895621	T	C	42895621	3	2	64	1	0	0	0	0	1	0	0	0	6812	1696	59	3	340	3	GRXCR1	4	42895621	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	12170818	42895621	148258655	34	46692											
CXCL9	4283	broad.mit.edu	37	chr4	76925962	76925962	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatcttccttttcaccaacCtgtttctcccactttttaat	2	13	3	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr4:76925962C>A	uc003hjh.1	-	3	315	c.276G>T	c.(274-276)CAG>CAT	p.Q92H		NM_002416	NP_002407	Q07325	CXCL9_HUMAN	small inducible cytokine B9 precursor	92					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			ovary(1)	1			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTTCACCAACCTGTTTCTCCC	0.328													A	76925962	C	A	76925962	3	1	64	1	0	0	0	0	1	0	0	0	4089	695	24	5	109	5	CXCL9	4	76925962	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	34030341	76925962	114228314	35	46693											
GRID2	2895	broad.mit.edu	37	chr4	94137982	94137982	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccagttccccagaacataAgtcagcggtgtttccgtggc	10	12	1	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr4:94137982A>C	uc011cdt.1	+	6	1141	c.883A>C	c.(883-885)AGT>CGT	p.S295R	GRID2_uc010ikx.2_Missense_Mutation_p.S295R|GRID2_uc011cdu.1_Missense_Mutation_p.S200R|GRID2_uc010ikz.1_5'UTR	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	295	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CCAGAACATAAGTCAGCGGTG	0.403													C	94137982	A	C	94137982	3	2	64	1	0	0	0	0	1	0	0	0	6772	72	3	5	905	5	GRID2	4	94137982	Missense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08	17212020	94137982	97016294	36	46694											
C4orf31	79625	broad.mit.edu	37	chr4	121961132	121961132	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagctcctggaggctcagcTtccactccaaaggcgcatca	10	15	2	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr4:121961132T>A	uc003idq.1	-	3	793	c.266A>T	c.(265-267)AAG>ATG	p.K89M		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	89											0						GAGGCTCAGCTTCCACTCCAA	0.512													A	121961132	T	A	121961132	3	1	64	1	0	0	0	0	1	0	0	0	2261	1609	56	5	1448	5	C4orf31	4	121961132	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	27823150	121961132	69193144	37	46695											
EDNRA	1909	broad.mit.edu	37	chr4	148407147	148407147	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaactctgctcaggatcaTttaccagaacaaatgtatga	7	9	3	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr4:148407147T>G	uc003iky.2	+	2	1006	c.314T>G	c.(313-315)ATT>AGT	p.I105S	EDNRA_uc011cid.1_Intron|EDNRA_uc010ipe.1_Missense_Mutation_p.I105S|EDNRA_uc010ipf.1_RNA|EDNRA_uc010ipg.1_Missense_Mutation_p.I105S	NM_001957	NP_001948	P25101	EDNRA_HUMAN	endothelin receptor type A isoform a precursor	105	Cytoplasmic (Potential).				activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)|breast(1)	2	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	CTCAGGATCATTTACCAGAAC	0.418													G	148407147	T	G	148407147	3	3	64	1	0	0	0	0	1	0	0	0	4919	1493	52	5	316	5	EDNRA	4	148407147	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	26446015	148407147	42747129	38	46696											
DCHS2	54798	broad.mit.edu	37	chr4	155254538	155254538	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacaaccacgggctgcgtcTcgtgatccaggggcttccgg	14	14	1	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr4:155254538T>C	uc003inw.2	-	9	1325	c.1325A>G	c.(1324-1326)GAG>GGG	p.E442G	DCHS2_uc003inx.2_Missense_Mutation_p.E941G	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	442	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGGCTGCGTCTCGTGATCCAG	0.587													C	155254538	T	C	155254538	3	2	64	1	0	0	0	0	1	0	0	0	4288	1551	54	3	7589	3	DCHS2	4	155254538	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	6847391	155254538	35899738	39	46697											
GLRB	2743	broad.mit.edu	37	chr4	158041808	158041808	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcccaggataagaccaaacTtcaaaggtttgtctccccca	6	13	2	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr4:158041808T>G	uc003ipj.2	+	3	425	c.223T>G	c.(223-225)TTC>GTC	p.F75V		NM_000824	NP_000815	P48167	GLRB_HUMAN	glycine receptor, beta isoform A precursor	75	Extracellular (Probable).				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			skin(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	AAGACCAAACTTCAAAGGTTT	0.343													G	158041808	T	G	158041808	3	3	64	1	0	0	0	0	1	0	0	0	6458	1609	56	5	229	5	GLRB	4	158041808	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	2787270	158041808	33112468	40	46698											
RAPGEF2	9693	broad.mit.edu	37	chr4	160251157	160251157	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caagaaagggacacattgtcAtcaaggtaggacacaggacc	11	9	2	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr4:160251157A>T	uc003iqg.3	+	6	1124	c.814A>T	c.(814-816)ATC>TTC	p.I272F		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	272	N-terminal Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ACACATTGTCATCAAGGTAGG	0.393													T	160251157	A	T	160251157	3	4	64	1	0	0	0	0	1	0	0	0	13044	217	8	5	836	5	RAPGEF2	4	160251157	Missense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08	2209349	160251157	30903119	41	46699											
WDR17	116966	broad.mit.edu	37	chr4	177052829	177052829	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catgcagtgtgttgtttcttGgatggtggagttggacttta	14	4	1	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr4:177052829G>C	uc003iuj.2	+	8	1266	c.1110G>C	c.(1108-1110)TTG>TTC	p.L370F	WDR17_uc003iuk.2_Missense_Mutation_p.L346F|WDR17_uc003ium.3_Missense_Mutation_p.L346F|WDR17_uc003iul.1_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	370										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		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;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GTTGTTTCTTGGATGGTGGAG	0.383													C	177052829	G	C	177052829	3	2	64	1	0	0	0	0	1	0	0	0	17274	1339	47	5	1136	5	WDR17	4	177052829	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	16801672	177052829	14101447	42	46700											
AGA	175	broad.mit.edu	37	chr4	178355641	178355641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtattggtgagtctcctacaCggctttgagagggtattaac	12	7	1	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr4:178355641C>T	uc003iuu.1	-	7	763	c.701G>A	c.(700-702)CGT>CAT	p.R234H	AGA_uc010irt.1_RNA|AGA_uc003iuv.1_Missense_Mutation_p.V113M|AGA_uc003iuw.2_Intron	NM_000027	NP_000018	P20933	ASPG_HUMAN	aspartylglucosaminidase precursor	234					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity				0		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		GTCTCCTACACGGCTTTGAGA	0.478													T	178355641	C	T	178355641	3	4	64	1	0	0	0	0	1	0	0	0	365	536	19	1	351	1	AGA	4	178355641	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	1302812	178355641	12798635	43	46701											
ING2	3622	broad.mit.edu	37	chr4	184431507	184431507	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaaaccagaagaaacgtcTacagcagcttctccagagag	8	10	2	3			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr4:184431507T>C	uc003ivs.1	+	2	374	c.245T>C	c.(244-246)CTA>CCA	p.L82P	ING2_uc011ckk.1_Missense_Mutation_p.L42P	NM_001564	NP_001555	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	82	Potential.				chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding			ovary(1)	1		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AAGAAACGTCTACAGCAGCTT	0.333													C	184431507	T	C	184431507	3	2	64	1	0	0	0	0	1	0	0	0	7736	1522	53	3	251	3	ING2	4	184431507	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	6075866	184431507	6722769	44	46702											
PLEKHG4B	153478	broad.mit.edu	37	chr5	156286	156286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggggggcaccgtcctggCgcggctgaggagagaagagc	21	9	0	3			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr5:156286C>T	uc003jak.2	+	8	1291	c.1241C>T	c.(1240-1242)GCG>GTG	p.A414V		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	414					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		ACCGTCCTGGCGCGGCTGAGG	0.617													T	156286	C	T	156286	3	4	64	1	0	0	0	0	1	0	0	0	12072	768	27	1	1271	1	PLEKHG4B	5	156286	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08		156286	180758974	45	46703											
SLC9A3	6550	broad.mit.edu	37	chr5	483432	483432	+	Frame_Shift_Del	DEL	C	C	-													aggagcacgaaggccgtgttCcaggtccagatgaacgggtt							TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr5:483432delC	uc003jbe.2	-	6	1210	c.1098delG	c.(1096-1098)TGGfs	p.W366fs	SLC9A3_uc011clx.1_Frame_Shift_Del_p.W366fs	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	366	Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGGCCGTGTTCCAGGTCCAGA	0.647													-	483432	C	-	483432	7	5	64	1	0	1	0	1	0	0	0	0	14713	856	30	0	1454	0	SLC9A3	5	483432	Frame_Shift_Del	DEL	C	TCGA-BR-8080-01A-11D-2340-08	327146	483432	180431828	46	46704											
ADCY2	108	broad.mit.edu	37	chr5	7789859	7789859	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccgcgtgctgctggagaaCgtgcttcccgcgcacgtggc	14	14	0	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr5:7789859C>T	uc003jdz.1	+	20	2641	c.2574C>T	c.(2572-2574)AAC>AAT	p.N858N	ADCY2_uc011cmo.1_Silent_p.N678N|ADCY2_uc010itm.1_Silent_p.N54N	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	858	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.N858N(1)		ovary(5)|pancreas(1)|skin(1)	7						TGCTGGAGAACGTGCTTCCCG	0.557													T	7789859	C	T	7789859	2	4	64	1	0	0	0	0	0	0	0	1	294	535	19	1		1	ADCY2	5	7789859	Silent	SNP	C	TCGA-BR-8080-01A-11D-2340-08	7306427	7789859	173125401	47	46705											
ADCY2	108	broad.mit.edu	37	chr5	7820795	7820795	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccggagtcctggacaAaatacaggtaatgcagagtg	12	9	0	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr5:7820795A>G	uc003jdz.1	+	24	3183	c.3116A>G	c.(3115-3117)AAA>AGA	p.K1039R	ADCY2_uc011cmo.1_Missense_Mutation_p.K859R|ADCY2_uc010itm.1_Missense_Mutation_p.K235R	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	1039	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						GTCCTGGACAAAATACAGGTA	0.443													G	7820795	A	G	7820795	3	3	64	1	0	0	0	0	1	0	0	0	294	14	1	3	3210	3	ADCY2	5	7820795	Missense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08	30936	7820795	173094465	48	46706											
CTNND2	1501	broad.mit.edu	37	chr5	11022936	11022936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgatgccaccggcatcccGtaaggccttggcgttctcca	10	16	1	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr5:11022936G>A	uc003jfa.1	-	17	3089	c.2944C>T	c.(2944-2946)CGG>TGG	p.R982W	CTNND2_uc010itt.2_Missense_Mutation_p.R891W|CTNND2_uc011cmy.1_Missense_Mutation_p.R645W|CTNND2_uc011cmz.1_Missense_Mutation_p.R549W|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.R574W	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	982	ARM 9.				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						CCGGCATCCCGTAAGGCCTTG	0.507													A	11022936	G	A	11022936	3	1	64	1	0	0	0	0	1	0	0	0	4020	1144	40	1	757	1	CTNND2	5	11022936	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	3202141	11022936	169892324	49	46707											
JMY	133746	broad.mit.edu	37	chr5	78533384	78533384	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggacacctgcggctggaagaTcctctcccaggtgctcttca	11	14	3	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr5:78533384T>A	uc003kfx.3	+	1	1431	c.911T>A	c.(910-912)ATC>AAC	p.I304N		NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	junction-mediating and regulatory protein	304					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity				0		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		GGCTGGAAGATCCTCTCCCAG	0.607													A	78533384	T	A	78533384	3	1	64	1	0	0	0	0	1	0	0	0	7957	1435	50	5	913	5	JMY	5	78533384	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	67510448	78533384	102381876	50	46708											
VCAN	1462	broad.mit.edu	37	chr5	82836238	82836238	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaacatcctgaggtgccAagcgctaaagctgttactgc	10	10	0	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr5:82836238A>G	uc003kii.3	+	8	7772	c.7416A>G	c.(7414-7416)CCA>CCG	p.P2472P	VCAN_uc003kij.3_Silent_p.P1485P|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.P1136P	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2472	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTGAGGTGCCAAGCGCTAAAG	0.468													G	82836238	A	G	82836238	2	3	64	1	0	0	0	0	0	0	0	1	17135	117	5	3		3	VCAN	5	82836238	Silent	SNP	A	TCGA-BR-8080-01A-11D-2340-08	4302854	82836238	98079022	51	46709											
HAPLN1	1404	broad.mit.edu	37	chr5	82937440	82937440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctagagatggggtagcggaCgctgccatccgccaaccagc	13	14	0	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr5:82937440C>T	uc003kim.2	-	4	1011	c.940G>A	c.(940-942)GTC>ATC	p.V314I	HAPLN1_uc003kin.2_Missense_Mutation_p.V314I	NM_001884	NP_001875	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	314	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			large_intestine(3)|ovary(1)|skin(1)	5		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GGGTAGCGGACGCTGCCATCC	0.537													T	82937440	C	T	82937440	3	4	64	1	0	0	0	0	1	0	0	0	6954	536	19	1	128	1	HAPLN1	5	82937440	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	101202	82937440	97977820	52	46710											
SLCO4C1	353189	broad.mit.edu	37	chr5	101593707	101593707	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attttctataaatttaggtaAaaatgtagcaaatccagtag	6	4	1	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr5:101593707A>C	uc003knm.2	-	7	1500	c.1213T>G	c.(1213-1215)TTA>GTA	p.L405V		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	405	Extracellular (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AATTTAGGTAAAAATGTAGCA	0.294													C	101593707	A	C	101593707	3	2	64	1	0	0	0	0	1	0	0	0	14730	11	1	5	989	5	SLCO4C1	5	101593707	Missense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08	18656267	101593707	79321553	53	46711											
CAMK4	814	broad.mit.edu	37	chr5	110712565	110712565	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatctttccctagataaaacTtaaagagatatttgaaaccc	4	8	1	3			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr5:110712565T>G	uc011cvj.1	+	5	410	c.311T>G	c.(310-312)CTT>CGT	p.L104R	CAMK4_uc003kpf.2_Missense_Mutation_p.L104R|CAMK4_uc010jbv.2_Intron	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	104	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TAGATAAAACTTAAAGAGATA	0.343													G	110712565	T	G	110712565	3	3	64	1	0	0	0	0	1	0	0	0	2605	1609	56	5	325	5	CAMK4	5	110712565	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	9118858	110712565	70202695	54	46712											
MATR3	9782	broad.mit.edu	37	chr5	138658622	138658622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgtgaaaaaagatggaaGtgcttcagcagcagcaaaga	12	6	1	3			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr5:138658622G>A	uc003ldu.2	+	15	2541	c.2114G>A	c.(2113-2115)AGT>AAT	p.S705N	MATR3_uc010jfb.2_Missense_Mutation_p.S705N|MATR3_uc003ldt.2_Missense_Mutation_p.S367N|MATR3_uc003ldw.2_Missense_Mutation_p.S705N|MATR3_uc003ldx.2_Missense_Mutation_p.S705N|MATR3_uc010jfc.2_Missense_Mutation_p.S705N|MATR3_uc003ldy.2_Missense_Mutation_p.S382N|MATR3_uc011czb.1_Missense_Mutation_p.S417N|MATR3_uc003ldz.2_Missense_Mutation_p.S705N|MATR3_uc003lea.2_Missense_Mutation_p.S705N|MATR3_uc003leb.2_Missense_Mutation_p.S367N|MATR3_uc003lec.2_Missense_Mutation_p.S382N	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	705						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAAGATGGAAGTGCTTCAGCA	0.363													A	138658622	G	A	138658622	3	1	64	1	0	0	0	0	1	0	0	0	9337	1029	36	4	2156	4	MATR3	5	138658622	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	27946057	138658622	42256638	55	46713											
PCDHA13	56136	broad.mit.edu	37	chr5	140263637	140263637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgtggtggcgaaggtgcGcgcggtggacgccgattcgg	19	11	0	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr5:140263637G>A	uc003lif.2	+	1	1784	c.1784G>A	c.(1783-1785)CGC>CAC	p.R595H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.R595H|PCDHA13_uc003lid.2_Missense_Mutation_p.R595H	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	595	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAAGGTGCGCGCGGTGGAC	0.706													A	140263637	G	A	140263637	3	1	64	1	0	0	0	0	1	0	0	0	11523	1087	38	1	1786	1	PCDHA13	5	140263637	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	1605015	140263637	40651623	56	46714											
PCDHB3	56132	broad.mit.edu	37	chr5	140480968	140480968	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaccagaatttgcacagccGctctatgaggttgcagttct	10	11	2	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr5:140480968G>T	uc003lio.2	+	1	735	c.735G>T	c.(733-735)CCG>CCT	p.P245P	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	245	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGCACAGCCGCTCTATGAGG	0.498													T	140480968	G	T	140480968	2	4	64	1	0	0	0	0	0	0	0	1	11543	1074	38	5		5	PCDHB3	5	140480968	Silent	SNP	G	TCGA-BR-8080-01A-11D-2340-08	217331	140480968	40434292	57	46715											
PCDHB11	56125	broad.mit.edu	37	chr5	140579789	140579789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatcccagagaacagtcccGttggtgctgtgttcttacta	9	10	1	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr5:140579789G>A	uc003liy.2	+	1	442	c.442G>A	c.(442-444)GTT>ATT	p.V148I	PCDHB11_uc011daj.1_Intron	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	148	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAACAGTCCCGTTGGTGCTGT	0.398													A	140579789	G	A	140579789	3	1	64	1	0	0	0	0	1	0	0	0	11536	1145	40	1	444	1	PCDHB11	5	140579789	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	98821	140579789	40335471	58	46716											
JAKMIP2	9832	broad.mit.edu	37	chr5	147016608	147016608	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctctgcttggagctgttcttGagcctggtgaaaccaaaatt	10	9	2	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr5:147016608G>T	uc003loq.1	-	11	1916	c.1534C>A	c.(1534-1536)CAA>AAA	p.Q512K	JAKMIP2_uc011dbx.1_Missense_Mutation_p.Q470K|JAKMIP2_uc003lor.1_Missense_Mutation_p.Q512K|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.Q512K	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	512	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGTTCTTGAGCCTGGTGA	0.433													T	147016608	G	T	147016608	3	4	64	1	0	0	0	0	1	0	0	0	7941	1299	45	5	942	5	JAKMIP2	5	147016608	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	6436819	147016608	33898652	59	46717											
RANBP17	64901	broad.mit.edu	37	chr5	170722912	170722912	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttcagtgaactgagagcaAgtttgataaacagccagccc	9	9	1	3			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr5:170722912A>C	uc003mba.2	+	27	3080	c.3064A>C	c.(3064-3066)AGT>CGT	p.S1022R	RANBP17_uc003mbb.2_Missense_Mutation_p.S347R|RANBP17_uc010jjs.2_RNA	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1022					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACTGAGAGCAAGTTTGATAAA	0.532			T	TRD@	ALL								C	170722912	A	C	170722912	3	2	64	1	0	0	0	0	1	0	0	0	13027	72	3	5	3170	5	RANBP17	5	170722912	Missense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08	23706304	170722912	10192348	60	46718											
BTN1A1	696	broad.mit.edu	37	chr6	26508948	26508948	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcaatcggcgtgtgtaGggagaatgtgatgaagaaag	17	4	0	4			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr6:26508948G>T	uc003nif.3	+	7	1147	c.1127G>T	c.(1126-1128)AGG>ATG	p.R376M		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1 precursor	376	B30.2/SPRY.|Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	receptor activity			ovary(1)|skin(1)	2						GGCGTGTGTAGGGAGAATGTG	0.552													T	26508948	G	T	26508948	3	4	64	1	0	0	0	0	1	0	0	0	1559	1000	35	5	1153	5	BTN1A1	6	26508948	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08		26508948	144606119	61	46719											
RARS2	57038	broad.mit.edu	37	chr6	88224725	88224725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtagtgttttgtgtgccaCagctgcaagatgactgaaac	11	7	0	3			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr6:88224725C>T	uc003pme.2	-	19	1660	c.1600G>A	c.(1600-1602)GTG>ATG	p.V534M	RARS2_uc003pmb.2_Missense_Mutation_p.V359M|RARS2_uc003pmc.2_Missense_Mutation_p.V359M|RARS2_uc003pmd.2_Missense_Mutation_p.V146M|RARS2_uc003pmf.2_RNA	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	534					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|central_nervous_system(1)	3		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TTGTGTGCCACAGCTGCAAGA	0.393													T	88224725	C	T	88224725	3	4	64	1	0	0	0	0	1	0	0	0	13059	478	17	4	144	4	RARS2	6	88224725	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	61715777	88224725	82890342	62	46720											
BEND3	57673	broad.mit.edu	37	chr6	107390253	107390253	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggtagggagaaggcacCgggaagtcaggcgaggggac	20	7	1	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr6:107390253C>T	uc003prs.2	-	5	2792	c.2142G>A	c.(2140-2142)CCG>CCA	p.P714P		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	714										ovary(3)	3						GAGAAGGCACCGGGAAGTCAG	0.647													T	107390253	C	T	107390253	2	4	64	1	0	0	0	0	0	0	0	1	1399	639	23	1		1	BEND3	6	107390253	Silent	SNP	C	TCGA-BR-8080-01A-11D-2340-08	19165528	107390253	63724814	63	46721											
PLG	5340	broad.mit.edu	37	chr6	161143543	161143543	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggaaagaagtgtcagtcTtggtcatctatgacaccaca	9	9	4	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr6:161143543T>C	uc003qtm.3	+	10	1263	c.1200T>C	c.(1198-1200)TCT>TCC	p.S400S		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	400	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGTGTCAGTCTTGGTCATCTA	0.517													C	161143543	T	C	161143543	2	2	64	1	0	0	0	0	0	0	0	1	12086	1596	56	3		3	PLG	6	161143543	Silent	SNP	T	TCGA-BR-8080-01A-11D-2340-08	53753290	161143543	9971524	64	46722											
FOXK1	221937	broad.mit.edu	37	chr7	4800738	4800738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtttgccacaatccccgcGgctggtggagtcatccagac	12	14	1	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr7:4800738G>A	uc003snc.1	+	8	1750	c.1740G>A	c.(1738-1740)GCG>GCA	p.A580A	FOXK1_uc003sna.1_Silent_p.A417A	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	forkhead box K1	580					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			upper_aerodigestive_tract(1)|skin(1)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CAATCCCCGCGGCTGGTGGAG	0.652													A	4800738	G	A	4800738	2	1	64	1	0	0	0	0	0	0	0	1	6014	1103	39	1		1	FOXK1	7	4800738	Silent	SNP	G	TCGA-BR-8080-01A-11D-2340-08		4800738	154337925	65	46723											
RNF216	54476	broad.mit.edu	37	chr7	5780920	5780920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacctggtttgttatttcaCggggctgttggttcagagac	13	8	2	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr7:5780920C>T	uc003soy.1	-	4	747	c.557G>A	c.(556-558)CGT>CAT	p.R186H	RNF216_uc010ksz.1_Translation_Start_Site|RNF216_uc010kta.1_Intron|RNF216_uc011jwj.1_Intron|RNF216_uc003sox.1_Missense_Mutation_p.R243H	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	186					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TGTTATTTCACGGGGCTGTTG	0.512													T	5780920	C	T	5780920	3	4	64	1	0	0	0	0	1	0	0	0	13480	536	19	1	2099	1	RNF216	7	5780920	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	980182	5780920	153357743	66	46724											
EIF2AK1	27102	broad.mit.edu	37	chr7	6082613	6082613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagatggcaactcaatggCagctctgtctgctgaatgaa	11	9	3	3			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr7:6082613C>T	uc003spp.2	-	8	888	c.742G>A	c.(742-744)GCC>ACC	p.A248T	EIF2AK1_uc003spq.2_Missense_Mutation_p.A247T|EIF2AK1_uc011jwm.1_Missense_Mutation_p.A124T|EIF2AK1_uc003spr.1_Missense_Mutation_p.A40T	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha	248	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		AACTCAATGGCAGCTCTGTCT	0.408													T	6082613	C	T	6082613	3	4	64	1	0	0	0	0	1	0	0	0	4996	710	25	2	1182	2	EIF2AK1	7	6082613	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	301693	6082613	153056050	67	46725											
ZNF12	7559	broad.mit.edu	37	chr7	6731622	6731622	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctcccctgtgtgtgtTctctgatgcacagtaagggt	12	10	2	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr7:6731622T>G	uc003sqt.1	-	5	1505	c.951A>C	c.(949-951)AGA>AGC	p.R317S	ZNF12_uc011jxa.1_Missense_Mutation_p.R155S|ZNF12_uc003sqs.1_Missense_Mutation_p.R279S	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	317	C2H2-type 2.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CTGTGTGTGTTCTCTGATGCA	0.438													G	6731622	T	G	6731622	3	3	64	1	0	0	0	0	1	0	0	0	17715	1780	62	5	1146	5	ZNF12	7	6731622	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	649009	6731622	152407041	68	46726											
ZPBP	11055	broad.mit.edu	37	chr7	50057879	50057879	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacagttatggtctgtacatCgcttgggtcctttttcagtg	10	9	2	0	rs147255783		TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr7:50057879C>A	uc003tou.2	-	6	810	c.740G>T	c.(739-741)CGA>CTA	p.R247L	ZPBP_uc011kci.1_Missense_Mutation_p.R173L|ZPBP_uc010kyw.2_Missense_Mutation_p.R246L	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein isoform 1	247					binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)					GTCTGTACATCGCTTGGGTCC	0.313													A	50057879	C	A	50057879	3	1	64	1	0	0	0	0	1	0	0	0	18216	884	31	5	327	5	ZPBP	7	50057879	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	43326257	50057879	109080784	69	46727											
AKAP9	10142	broad.mit.edu	37	chr7	91570197	91570198	+	Translation_Start_Site	INS	-	-	GGC													gtttacgtggagacgaagatINSggcggcggcggcggcggtga							TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr7:91570197_91570198insGGC	uc003ulg.2	+	1	9_10	c.-216_-215insGGC	c.(-218--213)GATGGC>GATGGCGGC		AKAP9_uc003uld.3_Translation_Start_Site|AKAP9_uc003ule.2_Translation_Start_Site|AKAP9_uc003ulf.2_Translation_Start_Site	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2						G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAGACGAAGATggcggcggcgg	0.629			T	BRAF	papillary thyroid								GGC	91570198	-	GGC	91570197	6	5	64	1	0	1	1	0	0	0	0	0	459	1479	51	0		0	AKAP9	7	91570197	Translation_Start_Site	INS	-	TCGA-BR-8080-01A-11D-2340-08	41512318	91570197	67568466	70	46728											
NPTX2	4885	broad.mit.edu	37	chr7	98257796	98257796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catatgggaccgcgtccttcGcgcacaagaaattgtcaaca	9	12	1	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr7:98257796G>A	uc003upl.2	+	5	1328	c.1151G>A	c.(1150-1152)CGC>CAC	p.R384H		NM_002523	NP_002514	P47972	NPTX2_HUMAN	neuronal pentraxin II precursor	384	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			central_nervous_system(2)|skin(1)	3	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CGCGTCCTTCGCGCACAAGAA	0.567													A	98257796	G	A	98257796	3	1	64	1	0	0	0	0	1	0	0	0	10603	1087	38	1	1169	1	NPTX2	7	98257796	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	6687599	98257796	60880867	71	46729											
AGK	55750	broad.mit.edu	37	chr7	141336807	141336807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagcagcccactttttcaGcactcttaaggtaaatgtga	7	10	2	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr7:141336807G>A	uc003vwi.2	+	11	887	c.716G>A	c.(715-717)AGC>AAC	p.S239N	AGK_uc011krg.1_RNA	NM_018238	NP_060708	Q53H12	AGK_HUMAN	acylglycerol kinase precursor	239					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			ovary(1)|breast(1)	2	Melanoma(164;0.0171)					CACTTTTTCAGCACTCTTAAG	0.318													A	141336807	G	A	141336807	3	1	64	1	0	0	0	0	1	0	0	0	383	971	34	2	754	2	AGK	7	141336807	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	43079011	141336807	17801856	72	46730											
TRPV5	56302	broad.mit.edu	37	chr7	142630549	142630549	+	Frame_Shift_Del	DEL	C	C	-													cttctgccttaggtagaaaaCcccccatgtcttctccttgc					rs149773774	byFrequency	TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr7:142630548_142630548AC>A	uc003wby.1	-	0	273	c.9_9GT>T	c.(7-9)ggtfs	p.G3fs	TRPV5_uc003wbz.3_Frame_Shift_Del_p.G3fs	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	3					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TAGGTAGAAAACCCCCCATGT	0.512													-	142630549	C	-	142630549	7	5	64	1	0	1	0	1	0	0	0	0	16596	507	18	0	2241	0	TRPV5	7	142630549	Frame_Shift_Del	DEL	C	TCGA-BR-8080-01A-11D-2340-08	1293742	142630549	16508114	73	46731											
CSMD1	64478	broad.mit.edu	37	chr8	2832041	2832041	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctctcgtgtcgttgcctatgAggctctcgctccctctgcag	10	15	3	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr8:2832041A>T	uc011kwk.1	-	56	9065	c.8675T>A	c.(8674-8676)CTC>CAC	p.L2892H	CSMD1_uc011kwj.1_Missense_Mutation_p.L2221H|CSMD1_uc010lrg.2_Missense_Mutation_p.L902H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2892	Sushi 21.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTTGCCTATGAGGCTCTCGCT	0.602													T	2832041	A	T	2832041	3	4	64	1	0	0	0	0	1	0	0	0	3944	304	11	5	2082	5	CSMD1	8	2832041	Missense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08		2832041	143531981	74	46732											
PREX2	80243	broad.mit.edu	37	chr8	68995528	68995528	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctattaatggtgacctagtTtttatgagacctttcaatga	8	6	1	3			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr8:68995528T>A	uc003xxv.1	+	18	1959	c.1932T>A	c.(1930-1932)GTT>GTA	p.V644V	PREX2_uc003xxu.1_Silent_p.V644V|PREX2_uc011lez.1_Silent_p.V579V	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	644	PDZ 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GTGACCTAGTTTTTATGAGAC	0.348													A	68995528	T	A	68995528	2	1	64	1	0	0	0	0	0	0	0	1	12477	1828	64	5		5	PREX2	8	68995528	Silent	SNP	T	TCGA-BR-8080-01A-11D-2340-08	66163487	68995528	77368494	75	46733											
C8orf34	116328	broad.mit.edu	37	chr8	69445301	69445301	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcaatgctctctcaagAttcttttgagtccatccaca	7	13	3	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr8:69445301A>G	uc010lyz.2	+	7	813	c.764A>G	c.(763-765)GAT>GGT	p.D255G	C8orf34_uc010lyy.1_Missense_Mutation_p.D255G|C8orf34_uc003xyb.2_Missense_Mutation_p.D230G	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	255					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CTCTCTCAAGATTCTTTTGAG	0.368													G	69445301	A	G	69445301	3	3	64	1	0	0	0	0	1	0	0	0	2422	333	12	3	711	3	C8orf34	8	69445301	Missense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08	449773	69445301	76918721	76	46734											
CRISPLD1	83690	broad.mit.edu	37	chr8	75937820	75937820	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgcaagcaaatccacaTtatgctcgtgtaattggaac	8	8	0	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr8:75937820T>A	uc003yan.2	+	13	1659	c.1284T>A	c.(1282-1284)CAT>CAA	p.H428Q	CRISPLD1_uc011lfk.1_Missense_Mutation_p.H240Q|CRISPLD1_uc011lfl.1_Missense_Mutation_p.H240Q	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	428	LCCL 2.					extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CAAATCCACATTATGCTCGTG	0.254													A	75937820	T	A	75937820	3	1	64	1	0	0	0	0	1	0	0	0	3882	1490	52	5	1330	5	CRISPLD1	8	75937820	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	6492519	75937820	70426202	77	46735											
RGS22	26166	broad.mit.edu	37	chr8	100999827	100999827	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgattttacaagatgaagaGatccacttactctccacagg	7	9	1	4			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr8:100999827G>T	uc003yjb.1	-	21	3234	c.3039C>A	c.(3037-3039)ATC>ATA	p.I1013I	RGS22_uc003yja.1_Silent_p.I832I|RGS22_uc003yjc.1_Silent_p.I1001I	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1013					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AAGATGAAGAGATCCACTTAC	0.353													T	100999827	G	T	100999827	2	4	64	1	0	0	0	0	0	0	0	1	13305	932	33	5		5	RGS22	8	100999827	Silent	SNP	G	TCGA-BR-8080-01A-11D-2340-08	25062007	100999827	45364195	78	46736											
DCAF13	25879	broad.mit.edu	37	chr8	104427572	104427572	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctccgcgagtcacgtgacTggaagtagtctgggaaaagc	14	10	2	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr8:104427572T>C	uc003yln.2	+	1	631	c.354T>C	c.(352-354)ACT>ACC	p.T118T	SLC25A32_uc003yll.2_5'Flank|SLC25A32_uc011lhr.1_5'Flank|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	Error:Variant_position_missing_in_Q9NV06_after_alignment					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						GTCACGTGACTGGAAGTAGTC	0.637													C	104427572	T	C	104427572	2	2	64	1	0	0	0	0	0	0	0	1	4266	1567	55	3		3	DCAF13	8	104427572	Silent	SNP	T	TCGA-BR-8080-01A-11D-2340-08	3427745	104427572	41936450	79	46737											
CSMD3	114788	broad.mit.edu	37	chr8	113421186	113421186	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaagataacagagaagatTgctgagttggcccatcatac	12	7	1	4			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr8:113421186T>C	uc003ynu.2	-	33	5630	c.5471A>G	c.(5470-5472)CAA>CGA	p.Q1824R	CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Missense_Mutation_p.Q1784R|CSMD3_uc011lhx.1_Missense_Mutation_p.Q1720R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1824	Extracellular (Potential).|CUB 10.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CAGAGAAGATTGCTGAGTTGG	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113421186	T	C	113421186	3	2	64	1	0	0	0	0	1	0	0	0	3946	1812	63	3	5808	3	CSMD3	8	113421186	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	8993614	113421186	32942836	80	46738											
CSMD3	114788	broad.mit.edu	37	chr8	113599416	113599416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagttgagtggataatttGgagacagcaaaattccttca	9	6	1	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr8:113599416G>A	uc003ynu.2	-	23	3923	c.3764C>T	c.(3763-3765)CCA>CTA	p.P1255L	CSMD3_uc003yns.2_Missense_Mutation_p.P527L|CSMD3_uc003ynt.2_Missense_Mutation_p.P1215L|CSMD3_uc011lhx.1_Missense_Mutation_p.P1151L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1255	Extracellular (Potential).|CUB 7.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TGGATAATTTGGAGACAGCAA	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113599416	G	A	113599416	3	1	64	1	0	0	0	0	1	0	0	0	3946	1348	47	4	7555	4	CSMD3	8	113599416	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	178230	113599416	32764606	81	46739											
TLE4	7091	broad.mit.edu	37	chr9	82323081	82323081	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtccaatacccctactccaCgaactgatgcgcccacccca	5	19	0	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr9:82323081C>A	uc004ald.2	+	13	1909	c.1060C>A	c.(1060-1062)CGA>AGA	p.R354R	TLE4_uc004alc.2_Silent_p.R329R|TLE4_uc010mpr.2_Silent_p.R208R|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Silent_p.R297R|TLE4_uc010mps.2_Silent_p.R253R|TLE4_uc004alf.2_Silent_p.R268R	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						CCCTACTCCACGAACTGATGC	0.443													A	82323081	C	A	82323081	2	1	64	1	0	0	0	0	0	0	0	1	15938	528	19	5		5	TLE4	9	82323081	Silent	SNP	C	TCGA-BR-8080-01A-11D-2340-08		82323081	58890350	82	46740											
OR13F1	138805	broad.mit.edu	37	chr9	107267259	107267259	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggtcgaagtaaagccttttCaacgtgcacagcccacctga	9	12	1	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr9:107267259C>A	uc011lvm.1	+	1	716	c.716C>A	c.(715-717)TCA>TAA	p.S239*		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F,	239	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)|skin(1)	3						AAAGCCTTTTCAACGTGCACA	0.478													A	107267259	C	A	107267259	4	1	64	1	0	0	0	0	0	1	0	0	10941	838	29	5	718	5	OR13F1	9	107267259	Nonsense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	24944178	107267259	33946172	83	46741											
DBH	1621	broad.mit.edu	37	chr9	136507403	136507403	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggccatcaacggctcgggCctgcagatggggctgcagag	17	11	1	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr9:136507403C>T	uc004cel.2	+	3	570	c.561C>T	c.(559-561)GGC>GGT	p.G187G		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	187	Intragranular (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	ACGGCTCGGGCCTGCAGATGG	0.632													T	136507403	C	T	136507403	2	4	64	1	0	0	0	0	0	0	0	1	4250	726	26	2		2	DBH	9	136507403	Silent	SNP	C	TCGA-BR-8080-01A-11D-2340-08	29240144	136507403	4706028	84	46742											
KIAA0649	9858	broad.mit.edu	37	chr9	138378506	138378506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagggagcccagggctgCgtgcaggaagaaggtcaggt	19	8	1	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr9:138378506C>T	uc004cfr.1	+	4	2699	c.2150C>T	c.(2149-2151)GCG>GTG	p.A717V		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	717						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		CCCAGGGCTGCGTGCAGGAAG	0.612													T	138378506	C	T	138378506	3	4	64	1	0	0	0	0	1	0	0	0	8187	768	27	1	2152	1	KIAA0649	9	138378506	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	1871103	138378506	2834925	85	46743											
ABCA2	20	broad.mit.edu	37	chr9	139911417	139911417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgaggatgccatagaccaCggcgtccaccatcagcatgg	12	13	1	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr9:139911417C>T	uc011mem.1	-	18	2858	c.2710G>A	c.(2710-2712)GTG>ATG	p.V904M	ABCA2_uc011mel.1_Missense_Mutation_p.V905M|ABCA2_uc004ckl.1_Missense_Mutation_p.V835M|ABCA2_uc004ckm.1_Missense_Mutation_p.V935M|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	904	Helical; (Potential).				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCATAGACCACGGCGTCCACC	0.652													T	139911417	C	T	139911417	3	4	64	1	0	0	0	0	1	0	0	0	32	536	19	1	4721	1	ABCA2	9	139911417	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	1532911	139911417	1302014	86	46744											
CUBN	8029	broad.mit.edu	37	chr10	16918918	16918918	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	attatcctataggaaaacttGaatccgaagtctgtgatttg	8	6	1	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr10:16918918G>C	uc001ioo.2	-	57	9136	c.9084C>G	c.(9082-9084)TTC>TTG	p.F3028L	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.F384L	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3028	CUB 22.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGAAAACTTGAATCCGAAGT	0.433													C	16918918	G	C	16918918	3	2	64	1	0	0	0	0	1	0	0	0	4051	1281	45	5	1831	5	CUBN	10	16918918	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08		16918918	118615829	87	46745											
MYO3A	53904	broad.mit.edu	37	chr10	26463375	26463375	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaaacactcataatttgtaTtcctatcccacaaaacatga	3	10	1	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr10:26463375T>A	uc001isn.2	+	30	4542	c.4182T>A	c.(4180-4182)TAT>TAA	p.Y1394*	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1394					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						ATAATTTGTATTCCTATCCCA	0.383													A	26463375	T	A	26463375	4	1	64	1	0	0	0	0	0	1	0	0	10076	1500	52	5	4292	5	MYO3A	10	26463375	Nonsense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	9544457	26463375	109071372	88	46746											
SORBS1	10580	broad.mit.edu	37	chr10	97141493	97141493	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggctgatattcgtaaatGctcttgggctctgcacgata	10	10	2	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr10:97141493G>A	uc001kkp.2	-	16	1647	c.1602C>T	c.(1600-1602)AGC>AGT	p.S534S	SORBS1_uc001kkk.2_Silent_p.S112S|SORBS1_uc001kkl.2_Silent_p.S136S|SORBS1_uc001kkn.2_Silent_p.S321S|SORBS1_uc001kkm.2_Silent_p.S390S|SORBS1_uc001kko.2_Silent_p.S556S|SORBS1_uc001kkq.2_Silent_p.S419S|SORBS1_uc001kkr.2_Silent_p.S324S|SORBS1_uc001kks.2_Silent_p.S324S|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Silent_p.S365S|SORBS1_uc001kkv.2_Silent_p.S456S|SORBS1_uc001kkw.2_Silent_p.S488S|SORBS1_uc010qoe.1_Silent_p.S333S|SORBS1_uc010qof.1_Silent_p.S686S	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	534					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATTCGTAAATGCTCTTGGGCT	0.393													A	97141493	G	A	97141493	2	1	64	1	0	0	0	0	0	0	0	1	14927	1310	46	2		2	SORBS1	10	97141493	Silent	SNP	G	TCGA-BR-8080-01A-11D-2340-08	70678118	97141493	38393254	89	46747											
CPN1	1369	broad.mit.edu	37	chr10	101824989	101824989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggggtgctggcggtgcGgcggacccctcggacccggt	20	13	0	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr10:101824989G>A	uc001kql.2	-	4	975	c.715C>T	c.(715-717)CGC>TGC	p.R239C		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	239	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CTGGCGGTGCGGCGGACCCCT	0.607													A	101824989	G	A	101824989	3	1	64	1	0	0	0	0	1	0	0	0	3809	1116	39	1	685	1	CPN1	10	101824989	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	4683496	101824989	33709758	90	46748											
OR51D1	390038	broad.mit.edu	37	chr11	4661157	4661157	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggctttcccactgtgttTtatgtatgccttggccaccc	9	13	0	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr11:4661157T>G	uc010qyk.1	+	1	137	c.137T>G	c.(136-138)TTT>TGT	p.F46C		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D,	46	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCACTGTGTTTTATGTATGCC	0.522													G	4661157	T	G	4661157	3	3	64	1	0	0	0	0	1	0	0	0	11093	1841	64	5	139	5	OR51D1	11	4661157	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08		4661157	130345359	91	46749											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5624861	5624861	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggagaaaaactgcagctcTtctgtcaggaggatgggaag	14	6	3	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr11:5624861T>C	uc001mbf.2	+	2	647	c.403T>C	c.(403-405)TTC>CTC	p.F135L	HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Intron|TRIM6_uc010qzj.1_5'UTR|TRIM6_uc001mbc.1_Missense_Mutation_p.F107L|TRIM6_uc001mbe.2_5'UTR|TRIM6_uc010qzk.1_Intron|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Missense_Mutation_p.F135L|TRIM6_uc001mbg.1_5'Flank|TRIM6_uc009yep.1_5'Flank	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN	tripartite motif-containing 6 and tripartite	135						intracellular	zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		ACTGCAGCTCTTCTGTCAGGA	0.557													C	5624861	T	C	5624861	3	2	64	1	0	0	0	0	1	0	0	0	16531	1609	56	3	409	3	TRIM6-TRIM34	11	5624861	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	963704	5624861	129381655	92	46750											
OR52N1	79473	broad.mit.edu	37	chr11	5809592	5809592	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taacaagcatcacacccctaAgaaaagtgaggaacccagct	7	12	1	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr11:5809592A>G	uc010qzo.1	-	1	455	c.455T>C	c.(454-456)CTT>CCT	p.L152P	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CACACCCCTAAGAAAAGTGAG	0.517													G	5809592	A	G	5809592	3	3	64	1	0	0	0	0	1	0	0	0	11127	72	3	3	510	3	OR52N1	11	5809592	Missense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08	184731	5809592	129196924	93	46751											
OR2AG2	338755	broad.mit.edu	37	chr11	6789842	6789842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtcataggccatgaagGccagtaggaggtcctcagcg	13	11	2	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr11:6789842G>A	uc001meq.1	-	1	347	c.347C>T	c.(346-348)GCC>GTC	p.A116V		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG,	116	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGCCATGAAGGCCAGTAGGAG	0.527													A	6789842	G	A	6789842	3	1	64	1	0	0	0	0	1	0	0	0	10985	1203	42	2	607	2	OR2AG2	11	6789842	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	980250	6789842	128216674	94	46752											
SYT9	143425	broad.mit.edu	37	chr11	7439317	7439317	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtccctcccgagaacaTtgaccaaatccacttgtcca	6	14	0	3			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr11:7439317T>C	uc001mfe.2	+	5	1532	c.1295T>C	c.(1294-1296)ATT>ACT	p.I432T	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	432	Cytoplasmic (Potential).|C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CCCGAGAACATTGACCAAATC	0.488													C	7439317	T	C	7439317	3	2	64	1	0	0	0	0	1	0	0	0	15478	1493	52	3	1313	3	SYT9	11	7439317	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	649475	7439317	127567199	95	46753											
BTBD10	84280	broad.mit.edu	37	chr11	13441177	13441177	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcttacagctaccatctgaActtgactgactactgtttct	6	11	3	3			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr11:13441177A>C	uc001mkz.2	-	4	671	c.414T>G	c.(412-414)AGT>AGG	p.S138R	BTBD10_uc010rcl.1_Missense_Mutation_p.S146R|BTBD10_uc001mla.2_Missense_Mutation_p.S122R|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Missense_Mutation_p.S90R|BTBD10_uc010rcn.1_Missense_Mutation_p.S107R|BTBD10_uc009ygo.2_Missense_Mutation_p.S90R	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	K+ channel tetramerization protein	138	Ser-rich.					nucleus					0				Epithelial(150;0.0214)		TACCATCTGAACTTGACTGAC	0.463													C	13441177	A	C	13441177	3	2	64	1	0	0	0	0	1	0	0	0	1538	40	2	5	1037	5	BTBD10	11	13441177	Missense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08	6001860	13441177	121565339	96	46754											
TRAF6	7189	broad.mit.edu	37	chr11	36512115	36512115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccagagtcgggtataacgCtcaaactatgaacagcctgg	10	11	1	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr11:36512115C>T	uc001mwr.1	-	8	1182	c.842G>A	c.(841-843)AGC>AAC	p.S281N	TRAF6_uc001mws.1_Missense_Mutation_p.S281N	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6	281	Interaction with TAX1BP1.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)				GGGTATAACGCTCAAACTATG	0.478													T	36512115	C	T	36512115	3	4	64	1	0	0	0	0	1	0	0	0	16442	797	28	2	730	2	TRAF6	11	36512115	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	23070938	36512115	98494401	97	46755											
HSD17B12	51144	broad.mit.edu	37	chr11	43876699	43876699	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attctgtttccctagggctcGataatctcaaacctgccttc	6	13	2	0	rs139099004	byFrequency	TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr11:43876699G>A	uc001mxq.3	+	11	1075	c.840G>A	c.(838-840)TCG>TCA	p.S280S		NM_016142	NP_057226	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	280	Helical; (Potential).				long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity				0						CCTAGGGCTCGATAATCTCAA	0.333													A	43876699	G	A	43876699	2	1	64	1	0	0	0	0	0	0	0	1	7381	1045	37	1		1	HSD17B12	11	43876699	Silent	SNP	G	TCGA-BR-8080-01A-11D-2340-08	7364584	43876699	91129817	98	46756											
OR4P4	81300	broad.mit.edu	37	chr11	55405859	55405859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagcaataatagcacttTgtttattctcttggggtttt	7	5	1	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr11:55405859T>C	uc010rij.1	+	1	26	c.26T>C	c.(25-27)TTG>TCG	p.L9S		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						AATAGCACTTTGTTTATTCTC	0.323													C	55405859	T	C	55405859	3	2	64	1	0	0	0	0	1	0	0	0	11080	1821	63	3	28	3	OR4P4	11	55405859	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	11529160	55405859	79600657	99	46757											
PCNXL3	399909	broad.mit.edu	37	chr11	65387008	65387008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggcctctctctgggcagCggccgaggagactggcaggc	19	12	2	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr11:65387008C>T	uc001oey.2	+	7	1706	c.1706C>T	c.(1705-1707)GCG>GTG	p.A569V		NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	569						integral to membrane					0						CTCTGGGCAGCGGCCGAGGAG	0.607													T	65387008	C	T	65387008	3	4	64	1	0	0	0	0	1	0	0	0	11593	782	27	1	1732	1	PCNXL3	11	65387008	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	9981149	65387008	69619508	100	46758											
LRRC32	2615	broad.mit.edu	37	chr11	76371306	76371306	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccaggctcaggctgcggaggGaggtgatgccggagaaggcc	19	10	1	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr11:76371306G>C	uc001oxq.3	-	3	1574	c.1331C>G	c.(1330-1332)TCC>TGC	p.S444C	LRRC32_uc001oxr.3_Missense_Mutation_p.S444C|LRRC32_uc010rsf.1_Missense_Mutation_p.S444C	NM_005512	NP_005503	Q14392	LRC32_HUMAN	leucine rich repeat containing 32 precursor	444	LRR 16.|Extracellular (Potential).					integral to plasma membrane					0						GCTGCGGAGGGAGGTGATGCC	0.642													C	76371306	G	C	76371306	3	2	64	1	0	0	0	0	1	0	0	0	8987	1174	41	5	661	5	LRRC32	11	76371306	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	10984298	76371306	58635210	101	46759											
CCDC89	220388	broad.mit.edu	37	chr11	85396349	85396349	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttcaatggacagctgcagCaactcctctttctctctagt	6	13	4	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr11:85396349C>A	uc001pau.1	-	1	972	c.825G>T	c.(823-825)TTG>TTT	p.L275F		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	275	Potential.					cytoplasm|nucleus					0		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ACAGCTGCAGCAACTCCTCTT	0.532													A	85396349	C	A	85396349	3	1	64	1	0	0	0	0	1	0	0	0	2866	709	25	5	303	5	CCDC89	11	85396349	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	9025043	85396349	49610167	102	46760											
PGR	5241	broad.mit.edu	37	chr11	100999184	100999184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggcttcactggggccccGgaccagtgagggctctcaga	15	13	2	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr11:100999184G>A	uc001pgh.2	-	1	1361	c.618C>T	c.(616-618)TCC>TCT	p.S206S	PGR_uc001pgi.2_Silent_p.S206S|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	206	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CTGGGGCCCCGGACCAGTGAG	0.692													A	100999184	G	A	100999184	2	1	64	1	0	0	0	0	0	0	0	1	11805	1103	39	1		1	PGR	11	100999184	Silent	SNP	G	TCGA-BR-8080-01A-11D-2340-08	15602835	100999184	34007332	103	46761											
OR10G7	390265	broad.mit.edu	37	chr11	123908818	123908818	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatttttcagcttcaacagAgctttctttacctccttgtt	4	12	3	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr11:123908818A>C	uc001pzq.1	-	1	891	c.891T>G	c.(889-891)GCT>GCG	p.A297A		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G,	297	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCTTCAACAGAGCTTTCTTTA	0.408													C	123908818	A	C	123908818	2	2	64	1	0	0	0	0	0	0	0	1	10902	291	11	5		5	OR10G7	11	123908818	Silent	SNP	A	TCGA-BR-8080-01A-11D-2340-08	22909634	123908818	11097698	104	46762											
CD163	9332	broad.mit.edu	37	chr12	7639263	7639263	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accagtggcattaatggcctCtccacagcccagctgtctgc	9	15	2	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr12:7639263C>A	uc001qsz.3	-	10	2418	c.2290G>T	c.(2290-2292)GAG>TAG	p.E764*	CD163_uc001qta.3_Nonsense_Mutation_p.E764*|CD163_uc009zfw.2_Nonsense_Mutation_p.E797*	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	764	SRCR 7.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						TTAATGGCCTCTCCACAGCCC	0.532													A	7639263	C	A	7639263	4	1	64	1	0	0	0	0	0	1	0	0	2967	922	32	5	1208	5	CD163	12	7639263	Nonsense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08		7639263	126212632	105	46763											
A2ML1	144568	broad.mit.edu	37	chr12	9004550	9004550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcccttactcagtagtccGtggggaatcctttcgtctta	8	12	3	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr12:9004550G>A	uc001quz.3	+	19	2503	c.2405G>A	c.(2404-2406)CGT>CAT	p.R802H	A2ML1_uc001qva.1_Missense_Mutation_p.R382H|A2ML1_uc010sgm.1_Missense_Mutation_p.R302H	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	646						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						TCAGTAGTCCGTGGGGAATCC	0.502													A	9004550	G	A	9004550	3	1	64	1	0	0	0	0	1	0	0	0	5	1145	40	1	2479	1	A2ML1	12	9004550	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	1365287	9004550	124847345	106	46764											
SP1	6667	broad.mit.edu	37	chr12	53777235	53777235	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccagcagcagcaacaccactCtcacacccattgcctcagct	5	19	2	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr12:53777235C>G	uc001scw.2	+	3	1601	c.1504C>G	c.(1504-1506)CTC>GTC	p.L502V	SP1_uc010sog.1_Missense_Mutation_p.L495V	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	502	Transactivation domain C (highly charged).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CAACACCACTCTCACACCCAT	0.552													G	53777235	C	G	53777235	3	3	64	1	0	0	0	0	1	0	0	0	14959	913	32	5	1514	5	SP1	12	53777235	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	44772685	53777235	80074660	107	46765											
MYF6	4618	broad.mit.edu	37	chr12	81101535	81101535	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaactggctcctatttcTtctacttggatggggaaaat	9	7	2	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr12:81101535T>G	uc001szf.1	+	1	90	c.37T>G	c.(37-39)TTC>GTC	p.F13V		NM_002469	NP_002460	P23409	MYF6_HUMAN	myogenic factor 6	13					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						CTCCTATTTCTTCTACTTGGA	0.493													G	81101535	T	G	81101535	3	3	64	1	0	0	0	0	1	0	0	0	10028	1609	56	5	39	5	MYF6	12	81101535	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	27324300	81101535	52750360	108	46766											
OAS1	4938	broad.mit.edu	37	chr12	113346553	113346553	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctggggcaacccccgtgcGctcagcttcgtactgagttc	12	15	1	1	rs147639145	by1000genomes	TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr12:113346553G>A	uc001tud.2	+	2	499	c.393G>A	c.(391-393)GCG>GCA	p.A131A	OAS1_uc010syn.1_Silent_p.A130A|OAS1_uc010syo.1_Silent_p.A130A|OAS1_uc001tub.2_Silent_p.A131A|OAS1_uc001tuc.2_Silent_p.A131A|OAS1_uc009zwf.2_Silent_p.A130A	NM_016816	NP_058132	P00973	OAS1_HUMAN	2',5'-oligoadenylate synthetase 1 isoform 1	131	Necessary for binding to dsRNA.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(2)	2						ACCCCCGTGCGCTCAGCTTCG	0.572													A	113346553	G	A	113346553	2	1	64	1	0	0	0	0	0	0	0	1	10799	1074	38	1		1	OAS1	12	113346553	Silent	SNP	G	TCGA-BR-8080-01A-11D-2340-08	32245018	113346553	20505342	109	46767											
POU4F1	5457	broad.mit.edu	37	chr13	79175862	79175862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatgttgttgtgcgagagCgtgagcgactcgaacctgca	13	9	1	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr13:79175862C>T	uc001vkv.2	-	2	1182	c.948G>A	c.(946-948)ACG>ACA	p.T316T	uc001vku.1_Intron	NM_006237	NP_006228	Q01851	PO4F1_HUMAN	POU domain, class 4, transcription factor 1	316	POU-specific.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TGTGCGAGAGCGTGAGCGACT	0.652													T	79175862	C	T	79175862	2	4	64	1	0	0	0	0	0	0	0	1	12278	755	27	1		1	POU4F1	13	79175862	Silent	SNP	C	TCGA-BR-8080-01A-11D-2340-08		79175862	35994016	110	46768											
NALCN	259232	broad.mit.edu	37	chr13	101717784	101717784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatggaaggtgacgtcgcCgccattgtggagcctctcca	12	12	2	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr13:101717784C>T	uc001vox.1	-	40	4765	c.4576G>A	c.(4576-4578)GGC>AGC	p.G1526S		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1526	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGACGTCGCCGCCATTGTGG	0.587													T	101717784	C	T	101717784	3	4	64	1	0	0	0	0	1	0	0	0	10148	652	23	1	660	1	NALCN	13	101717784	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	22541922	101717784	13452094	111	46769											
NALCN	259232	broad.mit.edu	37	chr13	101747941	101747941	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccaaacacggggcacccAaaatccaggttttttctctc	6	13	1	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr13:101747941A>G	uc001vox.1	-	28	3442	c.3253T>C	c.(3253-3255)TGG>CGG	p.W1085R		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1085	Extracellular (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CGGGGCACCCAAAATCCAGGT	0.333													G	101747941	A	G	101747941	3	3	64	1	0	0	0	0	1	0	0	0	10148	130	5	3	2031	3	NALCN	13	101747941	Missense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08	30157	101747941	13421937	112	46770											
SOS2	6655	broad.mit.edu	37	chr14	50666574	50666574	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttgtaccctaatacttcCtgtgaaaagaataaataatt	4	7	0	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr14:50666574C>T	uc001wxs.3	-	4	444	c.346_splice	c.e4-1	p.E116_splice	SOS2_uc010tql.1_Splice_Site_p.E116_splice	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2						apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					CTAATACTTCCTGTGAAAAGA	0.294													T	50666574	C	T	50666574	5	4	64	1	0	0	0	0	0	0	1	0	14937	695	24	4	3733	4	SOS2	14	50666574	Splice_Site	SNP	C	TCGA-BR-8080-01A-11D-2340-08		50666574	56682966	113	46771											
ACOT4	122970	broad.mit.edu	37	chr14	74060458	74060458	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttggtattggagggggcctCttggaatatcgagccagcct	14	8	1	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr14:74060458C>T	uc001xoo.2	+	2	764	c.510C>T	c.(508-510)CTC>CTT	p.L170L		NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	170					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GAGGGGGCCTCTTGGAATATC	0.423													T	74060458	C	T	74060458	2	4	64	1	0	0	0	0	0	0	0	1	153	900	32	4		4	ACOT4	14	74060458	Silent	SNP	C	TCGA-BR-8080-01A-11D-2340-08	23393884	74060458	33289082	114	46772											
FLRT2	23768	broad.mit.edu	37	chr14	86089626	86089626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcggaaagatgattattgcGaggcaggcaccaagaaggac	15	7	0	3			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr14:86089626G>A	uc001xvr.2	+	2	2535	c.1768G>A	c.(1768-1770)GAG>AAG	p.E590K	FLRT2_uc010atd.2_Missense_Mutation_p.E590K	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	590	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGATTATTGCGAGGCAGGCAC	0.488													A	86089626	G	A	86089626	3	1	64	1	0	0	0	0	1	0	0	0	5939	1059	37	1	1770	1	FLRT2	14	86089626	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	12029168	86089626	21259914	115	46773											
KIAA1409	57578	broad.mit.edu	37	chr14	94088470	94088470	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcaacctccgacagcgacTctcttgtatttgagcctctt	6	14	3	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr14:94088470T>G	uc001ybv.1	+	28	4509	c.4426T>G	c.(4426-4428)TCT>GCT	p.S1476A	KIAA1409_uc001ybs.1_Missense_Mutation_p.S1454A	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1631						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		CGACAGCGACTCTCTTGTATT	0.488													G	94088470	T	G	94088470	3	3	64	1	0	0	0	0	1	0	0	0	8230	1551	54	5	4466	5	KIAA1409	14	94088470	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	7998844	94088470	13261070	116	46774											
SERPINA5	5104	broad.mit.edu	37	chr14	95058443	95058443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagtcgggaaccagagcagCggcagccacggggacaatat	15	11	0	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr14:95058443C>T	uc001ydm.2	+	6	1298	c.1088C>T	c.(1087-1089)GCG>GTG	p.A363V	SERPINA3_uc001ydo.3_5'UTR	NM_000624	NP_000615	P05154	IPSP_HUMAN	serine (or cysteine) proteinase inhibitor, clade	363					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(2)	2				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	ACCAGAGCAGCGGCAGCCACG	0.567													T	95058443	C	T	95058443	3	4	64	1	0	0	0	0	1	0	0	0	14092	768	27	1	1102	1	SERPINA5	14	95058443	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	969973	95058443	12291097	117	46775											
MKRN3	7681	broad.mit.edu	37	chr15	23811873	23811873	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggtgtgtggcatctgcaTggaggttgtctatgagaagg	16	5	2	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr15:23811873T>C	uc001ywh.3	+	1	1420	c.944T>C	c.(943-945)ATG>ACG	p.M315T	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.M315T	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	315	RING-type.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGCATCTGCATGGAGGTTGTC	0.498													C	23811873	T	C	23811873	3	2	64	1	0	0	0	0	1	0	0	0	9608	1464	51	3	946	3	MKRN3	15	23811873	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08		23811873	78719519	118	46776											
BAHD1	22893	broad.mit.edu	37	chr15	40754422	40754422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcgcccacgccctcgcCgccgccgtcgccgccgcact	10	24	0	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr15:40754422C>T	uc001zlu.2	+	3	1815	c.1744C>T	c.(1744-1746)CGC>TGC	p.R582C	BAHD1_uc001zlt.2_Missense_Mutation_p.R581C|BAHD1_uc010bbp.1_Missense_Mutation_p.R581C|BAHD1_uc001zlv.2_Missense_Mutation_p.R582C	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	582	Arg-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		ACGCCCTCGCCGCCGCCGTCG	0.647													T	40754422	C	T	40754422	3	4	64	1	0	0	0	0	1	0	0	0	1297	652	23	1	1750	1	BAHD1	15	40754422	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	16942549	40754422	61776970	119	46777											
PKM2	5315	broad.mit.edu	37	chr15	72511293	72511293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacccactcaccaatggtaCagatgatgccagtgttccgg	9	13	1	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr15:72511293C>T	uc002atx.1	-	2	387	c.146G>A	c.(145-147)TGT>TAT	p.C49Y	PKM2_uc010bit.1_Missense_Mutation_p.C54Y|PKM2_uc010uki.1_Missense_Mutation_p.C123Y|PKM2_uc002atv.1_Missense_Mutation_p.C84Y|PKM2_uc002atw.1_Missense_Mutation_p.C49Y|PKM2_uc002aty.1_Missense_Mutation_p.C49Y|PKM2_uc010ukj.1_Missense_Mutation_p.V65I|PKM2_uc010ukk.1_Missense_Mutation_p.C49Y|PKM2_uc010biu.1_Missense_Mutation_p.C70Y|PKM2_uc002atz.1_RNA	NM_182471	NP_872271	P14618	KPYM_HUMAN	pyruvate kinase, muscle isoform M1	49					glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)	1					Pyruvic acid(DB00119)	ACCAATGGTACAGATGATGCC	0.527													T	72511293	C	T	72511293	3	4	64	1	0	0	0	0	1	0	0	0	11977	478	17	4	1660	4	PKM2	15	72511293	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	31756871	72511293	30020099	120	46778											
BBS4	585	broad.mit.edu	37	chr15	73023934	73023934	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgagccaactacttggcaccCtttgattggaagattctgta	9	10	1	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr15:73023934C>G	uc002avb.2	+	12	946	c.903C>G	c.(901-903)CCC>CCG	p.P301P	BBS4_uc010ukv.1_Silent_p.P289P|BBS4_uc002avc.2_Silent_p.P129P|BBS4_uc002avd.2_Silent_p.P309P|BBS4_uc010bja.2_Silent_p.P57P	NM_033028	NP_149017	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	301	Interaction with PCM1.|TPR 7.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity				0						ACTTGGCACCCTTTGATTGGA	0.473									Bardet-Biedl_syndrome				G	73023934	C	G	73023934	2	3	64	1	0	0	0	0	0	0	0	1	1339	668	24	5		5	BBS4	15	73023934	Silent	SNP	C	TCGA-BR-8080-01A-11D-2340-08	512641	73023934	29507458	121	46779											
HAPLN3	145864	broad.mit.edu	37	chr15	89421211	89421211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccaggtcctagtgctggCggtagcagtaaacaccgtac	12	13	0	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr15:89421211C>T	uc002bnc.2	-	5	1201	c.1073G>A	c.(1072-1074)CGC>CAC	p.R358H	HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Missense_Mutation_p.R420H	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	358	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	Lung NSC(78;0.0392)|all_lung(78;0.077)					CTAGTGCTGGCGGTAGCAGTA	0.587													T	89421211	C	T	89421211	3	4	64	1	0	0	0	0	1	0	0	0	6956	768	27	1	13	1	HAPLN3	15	89421211	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	16397277	89421211	13110181	122	46780											
TRAF7	84231	broad.mit.edu	37	chr16	2223996	2223996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgtgtggtgtctctgcGtctactccatgggtgacctg	13	12	2	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr16:2223996G>A	uc002cow.2	+	13	1309	c.1210G>A	c.(1210-1212)GTC>ATC	p.V404I		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	404	WD 1.				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						GTGTCTCTGCGTCTACTCCAT	0.597													A	2223996	G	A	2223996	3	1	64	1	0	0	0	0	1	0	0	0	16443	1145	40	1	1256	1	TRAF7	16	2223996	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08		2223996	88130757	123	46781											
SULT1A2	6799	broad.mit.edu	37	chr16	28606764	28606764	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaggagtcgtggggctggtGtgtttttcagagtctccatc	14	8	3	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr16:28606764G>T	uc002dqg.1	-	4	647	c.296C>A	c.(295-297)ACA>AAA	p.T99K	uc010vct.1_Intron|SULT1A2_uc002dqh.1_Missense_Mutation_p.T99K	NM_177528	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A,	99					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						TGGGGCTGGTGTGTTTTTCAG	0.537													T	28606764	G	T	28606764	3	4	64	1	0	0	0	0	1	0	0	0	15372	1377	48	5	611	5	SULT1A2	16	28606764	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	26382768	28606764	61747989	124	46782											
KIF22	3835	broad.mit.edu	37	chr16	29810471	29810471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccacccggctcaaccagcGctcctcccgcagtcatgctg	9	19	2	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr16:29810471G>A	uc002dts.3	+	5	749	c.725G>A	c.(724-726)CGC>CAC	p.R242H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Missense_Mutation_p.R174H|KIF22_uc010vdw.1_Missense_Mutation_p.R174H|KIF22_uc010bzf.2_Missense_Mutation_p.R174H	NM_007317	NP_015556	Q14807	KIF22_HUMAN	kinesin family member 22	242	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding				0						CTCAACCAGCGCTCCTCCCGC	0.612													A	29810471	G	A	29810471	3	1	64	1	0	0	0	0	1	0	0	0	8290	1087	38	1	743	1	KIF22	16	29810471	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	1203707	29810471	60544282	125	46783											
SALL1	6299	broad.mit.edu	37	chr16	51173596	51173596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggataagctgtcttgggagGcgtctgcagacttaggtgta	15	6	2	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr16:51173596G>A	uc010vgs.1	-	2	2568	c.2537C>T	c.(2536-2538)GCC>GTC	p.A846V	SALL1_uc010vgr.1_Missense_Mutation_p.A749V|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	846					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTCTTGGGAGGCGTCTGCAGA	0.478													A	51173596	G	A	51173596	3	1	64	1	0	0	0	0	1	0	0	0	13810	1203	42	2	1445	2	SALL1	16	51173596	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	21363125	51173596	39181157	126	46784											
IRX6	79190	broad.mit.edu	37	chr16	55363013	55363013	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcccggcctaggccacgaAgtcctgagtgccgtatgatt	12	13	0	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr16:55363013A>C	uc002ehy.2	+	5	1656	c.1123A>C	c.(1123-1125)AGT>CGT	p.S375R	IRX6_uc002ehx.2_Missense_Mutation_p.S375R	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	375						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						TAGGCCACGAAGTCCTGAGTG	0.637													C	55363013	A	C	55363013	3	2	64	1	0	0	0	0	1	0	0	0	7848	72	3	5	1141	5	IRX6	16	55363013	Missense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08	4189417	55363013	34991740	127	46785											
KARS	3735	broad.mit.edu	37	chr16	75665710	75665710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccctcattccggaactggCgtccaatttcataaacccgg	7	15	2	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr16:75665710C>T	uc002feq.2	-	8	1007	c.959G>A	c.(958-960)CGC>CAC	p.R320H	KARS_uc002fer.2_Missense_Mutation_p.R348H|KARS_uc002fes.2_Missense_Mutation_p.R164H	NM_005548	NP_005539	Q15046	SYK_HUMAN	lysyl-tRNA synthetase isoform 2	320					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			ovary(2)	2					L-Lysine(DB00123)	CCGGAACTGGCGTCCAATTTC	0.438													T	75665710	C	T	75665710	3	4	64	1	0	0	0	0	1	0	0	0	7980	768	27	1	862	1	KARS	16	75665710	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	20302697	75665710	14689043	128	46786											
CNTNAP4	85445	broad.mit.edu	37	chr16	76569647	76569647	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggttcttttgtgactgcacTttctctgcatacacagggcc	10	11	2	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr16:76569647T>G	uc002feu.1	+	20	3346	c.2961T>G	c.(2959-2961)ACT>ACG	p.T987T	CNTNAP4_uc002fev.1_Silent_p.T851T|CNTNAP4_uc010chb.1_Silent_p.T914T|CNTNAP4_uc002fex.1_Silent_p.T990T	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	987	Extracellular (Potential).|EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						GTGACTGCACTTTCTCTGCAT	0.458													G	76569647	T	G	76569647	2	3	64	1	0	0	0	0	0	0	0	1	3649	1596	56	5		5	CNTNAP4	16	76569647	Silent	SNP	T	TCGA-BR-8080-01A-11D-2340-08	903937	76569647	13785106	129	46787											
SMG6	23293	broad.mit.edu	37	chr17	2202841	2202841	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaatgccacgaccacgaccCcgaagttcttgtttcgggtt	10	12	1	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr17:2202841C>A	uc002fub.1	-	2	1261	c.1206G>T	c.(1204-1206)CGG>CGT	p.R402R	SMG6_uc002fud.1_Silent_p.R371R	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	402	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4						GACCACGACCCCGAAGTTCTT	0.532													A	2202841	C	A	2202841	2	1	64	1	0	0	0	0	0	0	0	1	14797	610	22	5		5	SMG6	17	2202841	Silent	SNP	C	TCGA-BR-8080-01A-11D-2340-08		2202841	78992369	130	46788											
TP53	7157	broad.mit.edu	37	chr17	7573994	7573994	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgagttccaaggcctcatTcagctctcggaacatctcga	8	13	4	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr17:7573994T>C	uc002gim.2	-	10	1227	c.1033A>G	c.(1033-1035)AAT>GAT	p.N345D	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.N213D|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.N345D	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	345	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2.				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.N345fs*25(3)|p.L344fs*23(2)|p.L344fs*22(1)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AAGGCCTCATTCAGCTCTCGG	0.527		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C	7573994	T	C	7573994	3	2	64	1	0	0	0	0	1	0	0	0	16378	1783	62	3	156	3	TP53	17	7573994	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	5371153	7573994	73621216	131	46789											
SSH2	85464	broad.mit.edu	37	chr17	27999110	27999110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagtagttatgcgctctggCgacttcacaagccttgtgta	11	9	2	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr17:27999110C>T	uc002heo.1	-	8	571	c.571G>A	c.(571-573)GCC>ACC	p.A191T	SSH2_uc010wbh.1_Missense_Mutation_p.A218T|SSH2_uc002hep.1_Missense_Mutation_p.A191T	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	191					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						TGCGCTCTGGCGACTTCACAA	0.468													T	27999110	C	T	27999110	3	4	64	1	0	0	0	0	1	0	0	0	15184	768	27	1	3732	1	SSH2	17	27999110	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	20425116	27999110	53196100	132	46790											
THRA	7067	broad.mit.edu	37	chr17	38244651	38244651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagaatggcggcctgggcGtagtctccgacgccatcttt	12	12	3	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr17:38244651G>A	uc002htw.2	+	8	1363	c.880G>A	c.(880-882)GTA>ATA	p.V294I	THRA_uc010cwp.1_Missense_Mutation_p.V294I|THRA_uc002htv.2_Missense_Mutation_p.V294I|THRA_uc002htx.2_Missense_Mutation_p.V294I	NM_003250	NP_003241	P10827	THA_HUMAN	thyroid hormone receptor, alpha isoform 2	294	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding				0	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	CGGCCTGGGCGTAGTCTCCGA	0.607													A	38244651	G	A	38244651	3	1	64	1	0	0	0	0	1	0	0	0	15870	1145	40	1	906	1	THRA	17	38244651	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	10245541	38244651	42950559	133	46791											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	64	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-BR-8080-01A-11D-2340-08	18141733	56386384	24808826	134	46792											
COLEC12	81035	broad.mit.edu	37	chr18	321787	321787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccatgaccccagttatccGgctgtccagctttccaattt	8	14	0	1	rs138304922		TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr18:321787G>A	uc002kkm.2	-	9	2299	c.2084C>T	c.(2083-2085)CCG>CTG	p.P695L		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	695	Extracellular (Potential).|C-type lectin.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CCAGTTATCCGGCTGTCCAGC	0.428													A	321787	G	A	321787	3	1	64	1	0	0	0	0	1	0	0	0	3712	1116	39	1	152	1	COLEC12	18	321787	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08		321787	77755461	135	46793											
DLGAP1	9229	broad.mit.edu	37	chr18	3879582	3879582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggccttgcccccgttgaCgctgcccttggacggcccct	12	18	0	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr18:3879582C>T	uc002kmf.2	-	1	554	c.487G>A	c.(487-489)GTC>ATC	p.V163I	DLGAP1_uc010wyz.1_Missense_Mutation_p.V163I|DLGAP1_uc002kmk.2_Missense_Mutation_p.V163I|uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	163					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				CCCCCGTTGACGCTGCCCTTG	0.716													T	3879582	C	T	3879582	3	4	64	1	0	0	0	0	1	0	0	0	4559	536	19	1	2541	1	DLGAP1	18	3879582	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	3557795	3879582	74197666	136	46794											
C18orf34	374864	broad.mit.edu	37	chr18	30847187	30847187	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagcataaaaatcattaacTgcttccagatactgattttc	5	9	1	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr18:30847187T>A	uc002kxn.2	-	12	1393	c.1251A>T	c.(1249-1251)GCA>GCT	p.A417A	C18orf34_uc010dme.1_5'Flank|C18orf34_uc010xbr.1_Silent_p.A417A|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Silent_p.A417A|C18orf34_uc002kxp.2_Silent_p.A417A	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	417										ovary(1)	1						AATCATTAACTGCTTCCAGAT	0.318													A	30847187	T	A	30847187	2	1	64	1	0	0	0	0	0	0	0	1	1902	1567	55	5		5	C18orf34	18	30847187	Silent	SNP	T	TCGA-BR-8080-01A-11D-2340-08	26967605	30847187	47230061	137	46795											
ASXL3	80816	broad.mit.edu	37	chr18	31324793	31324793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttcatcccaggaatcttGtaacaaatgttgctcttcct	5	11	3	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr18:31324793G>A	uc010dmg.1	+	12	5036	c.4981G>A	c.(4981-4983)GTA>ATA	p.V1661I	ASXL3_uc002kxq.2_Missense_Mutation_p.V1368I	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						CAGGAATCTTGTAACAAATGT	0.438													A	31324793	G	A	31324793	3	1	64	1	0	0	0	0	1	0	0	0	1068	1377	48	4	5027	4	ASXL3	18	31324793	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	477606	31324793	46752455	138	46796											
CDH7	1005	broad.mit.edu	37	chr18	63511174	63511174	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgtgaagataattgtggaaGatgtagatgagccccctgtg	13	6	0	5			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr18:63511174G>T	uc002ljz.2	+	7	1433	c.1108G>T	c.(1108-1110)GAT>TAT	p.D370Y	CDH7_uc002lka.2_Missense_Mutation_p.D370Y|CDH7_uc002lkb.2_Missense_Mutation_p.D370Y	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	370	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				AATTGTGGAAGATGTAGATGA	0.493													T	63511174	G	T	63511174	3	4	64	1	0	0	0	0	1	0	0	0	3115	942	33	5	1130	5	CDH7	18	63511174	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	32186381	63511174	14566074	139	46797											
CDH7	1005	broad.mit.edu	37	chr18	63547907	63547907	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catctttagggaatttatttGggaaagattaaaagaagccg	10	4	1	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr18:63547907G>T	uc002ljz.2	+	12	2460	c.2135G>T	c.(2134-2136)TGG>TTG	p.W712L	CDH7_uc002lkb.2_Missense_Mutation_p.W712L	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	712	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				GAATTTATTTGGGAAAGATTA	0.438													T	63547907	G	T	63547907	3	4	64	1	0	0	0	0	1	0	0	0	3115	1357	47	5	2177	5	CDH7	18	63547907	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	36733	63547907	14529341	140	46798											
DAPK3	1613	broad.mit.edu	37	chr19	3969700	3969700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcccccatctcataatGgtcctccacgtcctcctgcc	4	21	1	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr19:3969700G>A	uc002lzc.1	-	1	127	c.34C>T	c.(34-36)CAT>TAT	p.H12Y	DAPK3_uc002lzd.1_Missense_Mutation_p.H12Y	NM_001348	NP_001339	O43293	DAPK3_HUMAN	death-associated protein kinase 3	12					apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTCATAATGGTCCTCCACG	0.632											OREG0025158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	3969700	G	A	3969700	3	1	64	1	0	0	0	0	1	0	0	0	4237	1348	47	4	1362	4	DAPK3	19	3969700	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08		3969700	55159283	141	46799											
MUC16	94025	broad.mit.edu	37	chr19	9087815	9087815	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtagagacctgagctgaacTtgtatccttaggatccgtag	11	8	0	3			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr19:9087815T>C	uc002mkp.2	-	1	4204	c.4000A>G	c.(4000-4002)AGT>GGT	p.S1334G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1334	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGAGCTGAACTTGTATCCTTA	0.527													C	9087815	T	C	9087815	3	2	64	1	0	0	0	0	1	0	0	0	9973	1609	56	3	39859	3	MUC16	19	9087815	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	5118115	9087815	50041168	142	46800											
ZNF208	7757	broad.mit.edu	37	chr19	22155381	22155381	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgccttatgtgtagtaagggTtgagaccttactaaaggttt	11	5	0	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr19:22155381T>A	uc002nqp.2	-	5	2304	c.2155A>T	c.(2155-2157)ACC>TCC	p.T719S	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTAGTAAGGGTTGAGACCTTA	0.353													A	22155381	T	A	22155381	3	1	64	1	0	0	0	0	1	0	0	0	17763	1725	60	5	1391	5	ZNF208	19	22155381	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	13067566	22155381	36973602	143	46801											
HKR1	284459	broad.mit.edu	37	chr19	37853775	37853775	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctcaagccttatgtgtgcAaggaatgtgggcagagcttt	14	7	1	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr19:37853775A>G	uc002ogb.2	+	6	1347	c.1078A>G	c.(1078-1080)AAG>GAG	p.K360E	HKR1_uc002ofx.2_Missense_Mutation_p.K76E|HKR1_uc002ofy.2_Missense_Mutation_p.K76E|HKR1_uc002oga.2_Missense_Mutation_p.K342E|HKR1_uc010xto.1_Missense_Mutation_p.K342E|HKR1_uc002ogc.2_Missense_Mutation_p.K341E|HKR1_uc010xtp.1_Missense_Mutation_p.K299E|HKR1_uc002ogd.2_Missense_Mutation_p.K299E	NM_181786	NP_861451	P10072	HKR1_HUMAN	GLI-Kruppel family member HKR1	360	C2H2-type 3.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTATGTGTGCAAGGAATGTGG	0.517													G	37853775	A	G	37853775	3	3	64	1	0	0	0	0	1	0	0	0	7194	131	5	3	1092	3	HKR1	19	37853775	Missense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08	15698394	37853775	21275208	144	46802											
PSG4	5672	broad.mit.edu	37	chr19	43698670	43698670	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccgtgggttagactcggcGaagcaggacaagtagaggtt	16	8	0	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr19:43698670G>A	uc002ovy.2	-	5	1167	c.1065C>T	c.(1063-1065)TTC>TTT	p.F355F	PSG6_uc010xwk.1_Intron|PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Silent_p.F262F|PSG4_uc002ovz.2_Silent_p.F262F	NM_002780	NP_002771	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4 isoform	355	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)				TAGACTCGGCGAAGCAGGACA	0.453													A	43698670	G	A	43698670	2	1	64	1	0	0	0	0	0	0	0	1	12657	1049	37	1		1	PSG4	19	43698670	Silent	SNP	G	TCGA-BR-8080-01A-11D-2340-08	5844895	43698670	15430313	145	46803											
CARD8	22900	broad.mit.edu	37	chr19	48733886	48733886	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagaaaggctccacccgggCtggatgctccaggaccatcc	11	14	0	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr19:48733886C>A	uc002pie.3	-	6	839	c.526G>T	c.(526-528)GCC>TCC	p.A176S	CARD8_uc002pii.3_Missense_Mutation_p.A282S|CARD8_uc010xzi.1_Missense_Mutation_p.A177S|CARD8_uc010els.2_Missense_Mutation_p.A215S|CARD8_uc010xzj.1_Missense_Mutation_p.A282S|CARD8_uc010xzk.1_Missense_Mutation_p.A201S|CARD8_uc002pif.3_Missense_Mutation_p.A176S|CARD8_uc002pig.3_Missense_Mutation_p.A7S|CARD8_uc002pih.3_Missense_Mutation_p.A232S|CARD8_uc010xzl.1_Missense_Mutation_p.A232S|CARD8_uc010xzm.1_Missense_Mutation_p.A282S	NM_014959	NP_055774	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	176					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity				0		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		TCCACCCGGGCTGGATGCTCC	0.577													A	48733886	C	A	48733886	3	1	64	1	0	0	0	0	1	0	0	0	2651	797	28	5	789	5	CARD8	19	48733886	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	5035216	48733886	10395097	146	46804											
PTOV1	53635	broad.mit.edu	37	chr19	50360274	50360274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatctccccctgtgaggtgCgcgtgctcatgctcctgtac	10	15	2	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr19:50360274C>T	uc002pqf.1	+	6	771	c.601C>T	c.(601-603)CGC>TGC	p.R201C	PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Missense_Mutation_p.R169C|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	201	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CTGTGAGGTGCGCGTGCTCAT	0.657													T	50360274	C	T	50360274	3	4	64	1	0	0	0	0	1	0	0	0	12769	768	27	1	623	1	PTOV1	19	50360274	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	1626388	50360274	8768709	147	46805											
ZNF534	147658	broad.mit.edu	37	chr19	52937331	52937331	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actacaggaacctggtctccCtaggtgaggataatgtccgt	11	10	1	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr19:52937331C>G	uc002pzk.2	+	2	200	c.139C>G	c.(139-141)CTA>GTA	p.L47V	ZNF534_uc002pzj.1_Missense_Mutation_p.L47V|ZNF534_uc010epo.1_Missense_Mutation_p.L47V|ZNF534_uc002pzl.2_Missense_Mutation_p.L47V	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	zinc finger protein 534 isoform 2	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCTGGTCTCCCTAGGTGAGGA	0.498													G	52937331	C	G	52937331	3	3	64	1	0	0	0	0	1	0	0	0	17970	680	24	5	145	5	ZNF534	19	52937331	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	2577057	52937331	6191652	148	46806											
NLRP7	199713	broad.mit.edu	37	chr19	55449462	55449462	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gttacgtggtcacaaagaatCcgcacagaagagtcactcag	10	10	3	3			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr19:55449462C>A	uc002qih.3	-	5	2155	c.2079G>T	c.(2077-2079)CGG>CGT	p.R693R	NLRP7_uc002qig.3_Silent_p.R665R|NLRP7_uc002qii.3_Silent_p.R693R|NLRP7_uc010esk.2_Silent_p.R693R|NLRP7_uc010esl.2_Silent_p.R721R	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	693	LRR 2.		R -> W (in HYDM).|R -> P (in HYDM).|R -> Q (in HYDM).				ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		CACAAAGAATCCGCACAGAAG	0.468													A	55449462	C	A	55449462	2	1	64	1	0	0	0	0	0	0	0	1	10482	842	30	5		5	NLRP7	19	55449462	Silent	SNP	C	TCGA-BR-8080-01A-11D-2340-08	2512131	55449462	3679521	149	46807											
USP29	57663	broad.mit.edu	37	chr19	57641627	57641627	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgaagaataacgagcaAgtttatattcccaaatcttt	7	7	1	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr19:57641627A>G	uc002qny.2	+	4	1940	c.1584A>G	c.(1582-1584)CAA>CAG	p.Q528Q		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	528					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATAACGAGCAAGTTTATATTC	0.408													G	57641627	A	G	57641627	2	3	64	1	0	0	0	0	0	0	0	1	17056	69	3	3		3	USP29	19	57641627	Silent	SNP	A	TCGA-BR-8080-01A-11D-2340-08	2192165	57641627	1487356	150	46808											
ZNF135	7694	broad.mit.edu	37	chr19	58578607	58578607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaatgcttaaaaggcttccGgaacagctcggcacttacca	9	12	0	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr19:58578607G>A	uc010yhq.1	+	5	887	c.791G>A	c.(790-792)CGG>CAG	p.R264Q	ZNF135_uc002qre.2_Missense_Mutation_p.R252Q|ZNF135_uc002qrd.1_Missense_Mutation_p.R210Q|ZNF135_uc002qrf.2_Missense_Mutation_p.R210Q|ZNF135_uc002qrg.2_Missense_Mutation_p.R222Q|ZNF135_uc010yhr.1_Missense_Mutation_p.R73Q	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	264					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AAAGGCTTCCGGAACAGCTCG	0.507													A	58578607	G	A	58578607	3	1	64	1	0	0	0	0	1	0	0	0	17722	1116	39	1	958	1	ZNF135	19	58578607	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	936980	58578607	550376	151	46809											
A1BG	1	broad.mit.edu	37	chr19	58862776	58862776	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatcgctcagaatcagctcGaccggcgcgctgtccccgga	11	17	2	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr19:58862776G>A	uc002qsd.3	-	5	953	c.891C>T	c.(889-891)GTC>GTT	p.V297V	NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_5'Flank	NM_130786	NP_570602	P04217	A1BG_HUMAN	alpha 1B-glycoprotein precursor	297	Ig-like V-type 3.					extracellular region					0		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GAATCAGCTCGACCGGCGCGC	0.662													A	58862776	G	A	58862776	2	1	64	1	0	0	0	0	0	0	0	1	1	1045	37	1		1	A1BG	19	58862776	Silent	SNP	G	TCGA-BR-8080-01A-11D-2340-08	284169	58862776	266207	152	46810											
PROKR2	128674	broad.mit.edu	37	chr20	5294674	5294674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagagctgccgtaccacGtagtagtccatctcgaaggg	13	11	1	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr20:5294674G>A	uc010zqw.1	-	1	342	c.342C>T	c.(340-342)TAC>TAT	p.Y114Y	PROKR2_uc010zqx.1_Silent_p.Y114Y|PROKR2_uc010zqy.1_Silent_p.Y114Y|uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	114	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5						GCCGTACCACGTAGTAGTCCA	0.582										HNSCC(71;0.22)			A	5294674	G	A	5294674	2	1	64	1	0	0	0	0	0	0	0	1	12553	1140	40	1		1	PROKR2	20	5294674	Silent	SNP	G	TCGA-BR-8080-01A-11D-2340-08		5294674	57730846	153	46811											
DNMT3B	1789	broad.mit.edu	37	chr20	31387101	31387101	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcccgaaggcggcccattCgagtcctgtcattgtttgat	11	12	1	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr20:31387101C>T	uc002wyc.2	+	16	2047	c.1726C>T	c.(1726-1728)CGA>TGA	p.R576*	DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Nonsense_Mutation_p.R556*|DNMT3B_uc002wye.2_Nonsense_Mutation_p.R556*|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Nonsense_Mutation_p.R514*|DNMT3B_uc010zua.1_Nonsense_Mutation_p.R480*|DNMT3B_uc002wyf.2_Nonsense_Mutation_p.R568*|DNMT3B_uc002wyg.2_Nonsense_Mutation_p.R275*|DNMT3B_uc010geg.2_5'Flank|DNMT3B_uc010geh.2_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	576					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5						GCGGCCCATTCGAGTCCTGTC	0.587													T	31387101	C	T	31387101	4	4	64	1	0	0	0	0	0	1	0	0	4677	876	31	1	1824	1	DNMT3B	20	31387101	Nonsense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	26092427	31387101	31638419	154	46812											
DLGAP4	22839	broad.mit.edu	37	chr20	35125434	35125434	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtcccaccccgaggccGcccccaaaaggaaactgtca	9	17	1	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr20:35125434G>T	uc002xff.2	+	8	2410	c.1975G>T	c.(1975-1977)GCC>TCC	p.A659S	DLGAP4_uc010zvp.1_Missense_Mutation_p.A659S|DLGAP4_uc002xfg.2_5'UTR|DLGAP4_uc002xfh.2_Missense_Mutation_p.A120S|DLGAP4_uc002xfi.2_5'UTR|DLGAP4_uc002xfj.2_5'Flank	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	659					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCCGAGGCCGCCCCCAAAAG	0.577													T	35125434	G	T	35125434	3	4	64	1	0	0	0	0	1	0	0	0	4562	1087	38	5	2032	5	DLGAP4	20	35125434	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	3738333	35125434	27900086	155	46813											
ZHX3	23051	broad.mit.edu	37	chr20	39830759	39830759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagctggcctcagggacaCggggctcccacgactcactg	13	15	2	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr20:39830759C>T	uc002xjs.1	-	3	3176	c.2798G>A	c.(2797-2799)CGT>CAT	p.R933H	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Intron|ZHX3_uc002xjt.1_Missense_Mutation_p.R933H|ZHX3_uc002xju.1_Missense_Mutation_p.R933H|ZHX3_uc010ggg.1_Missense_Mutation_p.R933H	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	933					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				CTCAGGGACACGGGGCTCCCA	0.602													T	39830759	C	T	39830759	3	4	64	1	0	0	0	0	1	0	0	0	17674	536	19	1	80	1	ZHX3	20	39830759	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	4705325	39830759	23194761	156	46814											
BCAS1	8537	broad.mit.edu	37	chr20	52674669	52674669	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgacaccaccactggaaCcccgttcagagcagacgcgt	11	15	1	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr20:52674669C>A	uc002xws.2	-	3	435	c.97G>T	c.(97-99)GTT>TTT	p.V33F	BCAS1_uc002xwt.2_Missense_Mutation_p.V33F|BCAS1_uc010gil.1_Missense_Mutation_p.V33F|BCAS1_uc010zzc.1_Intron	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	33						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			ACCACTGGAACCCCGTTCAGA	0.537													A	52674669	C	A	52674669	3	1	64	1	0	0	0	0	1	0	0	0	1350	507	18	5	1697	5	BCAS1	20	52674669	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	12843910	52674669	10350851	157	46815											
MYH9	4627	broad.mit.edu	37	chr22	36696948	36696948	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcaggtgctggcagcgCtcctcctcctcctccaccct	9	20	0	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr22:36696948C>A	uc003apg.2	-	22	3018	c.2787G>T	c.(2785-2787)GAG>GAT	p.E929D	MYH9_uc003aph.1_Missense_Mutation_p.E793D	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	929	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GCTGGCAGCGCTCCTCCTCCT	0.667			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				A	36696948	C	A	36696948	3	1	64	1	0	0	0	0	1	0	0	0	10042	796	28	5	3175	5	MYH9	22	36696948	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08		36696948	14607618	158	46816											
NAGA	4668	broad.mit.edu	37	chr22	42458989	42458989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagggccatctgggcccGggattgctctaagctgagac	13	13	2	1	rs138546784		TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chr22:42458989G>A	uc003bbx.2	-	8	936	c.799C>T	c.(799-801)CGG>TGG	p.R267W	NAGA_uc003bby.2_Missense_Mutation_p.R267W|NAGA_uc003bbw.3_Missense_Mutation_p.R267W	NM_000262	NP_000253	P17050	NAGAB_HUMAN	alpha-N-acetylgalactosaminidase precursor	267					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)	1						ATCTGGGCCCGGGATTGCTCT	0.582													A	42458989	G	A	42458989	3	1	64	1	0	0	0	0	1	0	0	0	10141	1115	39	1	448	1	NAGA	22	42458989	Missense_Mutation	SNP	G	TCGA-BR-8080-01A-11D-2340-08	5762041	42458989	8845577	159	46817											
ARSD	414	broad.mit.edu	37	chrX	2826865	2826866	+	Missense_Mutation	DNP	GC	GC	AT													ccctgcagcaagggtaccagGctgtggccatcaatcaccct							TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chrX:2826865_2826866GC>AT	uc004cqy.2	-	9	1392_1393	c.1316_1317GC>AT	c.(1315-1317)AGC>AAT	p.S439N	ARSD_uc004cqz.1_Intron	NM_001669	NP_001660	P51689	ARSD_HUMAN	arylsulfatase D isoform a precursor	439						lysosome	arylsulfatase activity|metal ion binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGGTACCAGGCTGTGGCCATC	0.535													AT	2826866	GC	AT	2826865	3	1	64	1	0	0	0	0	1	0	0	0	989	1194	42	2	472	2	ARSD	23	2826865	Missense_Mutation	DNP	GC	TCGA-BR-8080-01A-11D-2340-08		2826865	152443695	160	46818											
DMD	1756	broad.mit.edu	37	chrX	31515045	31515045	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgcttccactggtcagaacTggcttccaaatgggacctga	10	12	1	2			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chrX:31515045T>C	uc004dda.1	-	57	8651	c.8407A>G	c.(8407-8409)AGT>GGT	p.S2803G	DMD_uc004dcq.1_Missense_Mutation_p.S74G|DMD_uc004dcr.1_Missense_Mutation_p.S343G|DMD_uc004dcs.1_Missense_Mutation_p.S343G|DMD_uc004dct.1_Missense_Mutation_p.S343G|DMD_uc004dcu.1_Missense_Mutation_p.S343G|DMD_uc004dcv.1_Missense_Mutation_p.S343G|DMD_uc004dcw.2_Missense_Mutation_p.S1459G|DMD_uc004dcx.2_Missense_Mutation_p.S1462G|DMD_uc004dcz.2_Missense_Mutation_p.S2680G|DMD_uc004dcy.1_Missense_Mutation_p.S2799G|DMD_uc004ddb.1_Missense_Mutation_p.S2795G	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2803					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGGTCAGAACTGGCTTCCAAA	0.438													C	31515045	T	C	31515045	3	2	64	1	0	0	0	0	1	0	0	0	4580	1580	55	3	2856	3	DMD	23	31515045	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	28688180	31515045	123755515	161	46819											
FAM47A	158724	broad.mit.edu	37	chrX	34149532	34149532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccaggctctgtgggttcGtcagttgtcttctcccggcc	11	13	4	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chrX:34149532G>A	uc004ddg.2	-	1	897	c.864C>T	c.(862-864)GAC>GAT	p.D288D		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	288										ovary(4)|central_nervous_system(1)	5						CTGTGGGTTCGTCAGTTGTCT	0.577													A	34149532	G	A	34149532	2	1	64	1	0	0	0	0	0	0	0	1	5569	1136	40	1		1	FAM47A	23	34149532	Silent	SNP	G	TCGA-BR-8080-01A-11D-2340-08	2634487	34149532	121121028	162	46820											
ALAS2	212	broad.mit.edu	37	chrX	55052271	55052271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcctccagcctttgttgCcttaaggtggatttgagaac	9	11	0	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chrX:55052271C>T	uc004dua.3	-	2	301	c.163G>A	c.(163-165)GCA>ACA	p.A55T	ALAS2_uc004dub.3_Missense_Mutation_p.A79T|ALAS2_uc004dud.3_Missense_Mutation_p.A55T	NM_000032	NP_000023	P22557	HEM0_HUMAN	5-aminolevulinate synthase 2 isoform a	55					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(1)	1					Glycine(DB00145)	GCCTTTGTTGCCTTAAGGTGG	0.493													T	55052271	C	T	55052271	3	4	64	1	0	0	0	0	1	0	0	0	485	739	26	2	1640	2	ALAS2	23	55052271	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	20902739	55052271	100218289	163	46821											
RAB40A	142684	broad.mit.edu	37	chrX	102755054	102755054	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtactggggagcgggagctTgtccaccagatgcacaggtg	17	9	0	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chrX:102755054T>C	uc004ekk.2	-	3	973	c.631A>G	c.(631-633)AAG>GAG	p.K211E		NM_080879	NP_543155	Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	211	SOCS box.				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0						AGCGGGAGCTTGTCCACCAGA	0.587													C	102755054	T	C	102755054	3	2	64	1	0	0	0	0	1	0	0	0	12939	1821	63	3	206	3	RAB40A	23	102755054	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	47702783	102755054	52515506	164	46822											
TRPC5	7224	broad.mit.edu	37	chrX	111155645	111155645	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agttccctggagctccgagcTtggtccagcaggtctttggc	13	12	1	0			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chrX:111155645T>G	uc004epl.1	-	3	1693	c.774A>C	c.(772-774)CAA>CAC	p.Q258H	TRPC5_uc004epm.1_Missense_Mutation_p.Q258H	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	258	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						AGCTCCGAGCTTGGTCCAGCA	0.542													G	111155645	T	G	111155645	3	3	64	1	0	0	0	0	1	0	0	0	16579	1606	56	5	2183	5	TRPC5	23	111155645	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	8400591	111155645	44114915	165	46823											
SLITRK4	139065	broad.mit.edu	37	chrX	142716880	142716880	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggaatgaaagcttctgtgCtcagtccatcttttttattg	9	7	3	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chrX:142716880C>A	uc004fbx.2	-	2	2421	c.2045G>T	c.(2044-2046)AGC>ATC	p.S682I	SLITRK4_uc004fby.2_Missense_Mutation_p.S682I	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	682	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTTCTGTGCTCAGTCCATC	0.473													A	142716880	C	A	142716880	3	1	64	1	0	0	0	0	1	0	0	0	14745	797	28	5	472	5	SLITRK4	23	142716880	Missense_Mutation	SNP	C	TCGA-BR-8080-01A-11D-2340-08	31561235	142716880	12553680	166	46824											
FMR1NB	158521	broad.mit.edu	37	chrX	147088343	147088343	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaccacgagcttcaaatgTtttgctccatttagagatgg	11	8	1	1			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chrX:147088343T>G	uc004fcm.2	+	3	593	c.519T>G	c.(517-519)TGT>TGG	p.C173W		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	173	P-type.|Extracellular (Potential).					integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTCAAATGTTTTGCTCCAT	0.348													G	147088343	T	G	147088343	3	3	64	1	0	0	0	0	1	0	0	0	5961	1731	60	5	529	5	FMR1NB	23	147088343	Missense_Mutation	SNP	T	TCGA-BR-8080-01A-11D-2340-08	4371463	147088343	8182217	167	46825											
CNGA2	1260	broad.mit.edu	37	chrX	150912264	150912264	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgagcgagaaattctcaAgaatctgccagccaagctca	10	10	3	3			TCGA-BR-8080-01A-11D-2340-08	TCGA-BR-8080-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4058de-9986-4dfe-b5f8-2503d0346e2e	b3aac2f9-d2de-4398-a22c-4b4a2509e824	g.chrX:150912264A>G	uc004fey.1	+	7	1513	c.1289A>G	c.(1288-1290)AAG>AGG	p.K430R		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	430	Extracellular (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GAAATTCTCAAGAATCTGCCA	0.498													G	150912264	A	G	150912264	3	3	64	1	0	0	0	0	1	0	0	0	3597	72	3	3	1311	3	CNGA2	23	150912264	Missense_Mutation	SNP	A	TCGA-BR-8080-01A-11D-2340-08	3823921	150912264	4358296	168	46826											
MXRA8	54587	broad.mit.edu	37	chr1	1289837	1289837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggaagaagtgggctcgGctctcggggacgatgacatt	16	8	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:1289837G>A	uc001aew.2	-	6	1033	c.1002C>T	c.(1000-1002)AGC>AGT	p.S334S	MXRA8_uc001aex.3_Silent_p.S334S|MXRA8_uc001aey.3_Silent_p.S334S|MXRA8_uc010nyl.1_Silent_p.S334S|MXRA8_uc001aez.2_Silent_p.S233S|MXRA8_uc001afa.2_Silent_p.S325S	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	334	Extracellular (Potential).					integral to membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGTGGGCTCGGCTCTCGGGGA	0.682													A	1289837	G	A	1289837	2	1	65	1	0	0	0	0	0	0	0	1	10005	1194	42	2		2	MXRA8	1	1289837	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08		1289837	247960784	1	46827											
CCNL2	81669	broad.mit.edu	37	chr1	1328774	1328774	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaaggaagctcaactcAccatgaggtctggaccaggt	10	10	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:1328774A>G	uc001afi.2	-	5	691	c.659_splice	c.e5+1	p.W220_splice	CCNL2_uc010nym.1_5'Flank|CCNL2_uc001aff.1_5'Flank|CCNL2_uc001afg.1_Splice_Site|CCNL2_uc001afh.2_Splice_Site_p.W220_splice|CCNL2_uc001afj.2_Splice_Site_p.W220_splice|CCNL2_uc001afk.2_Splice_Site_p.W220_splice	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	cyclin L2 isoform A						regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		AGCTCAACTCACCATGAGGTC	0.498													G	1328774	A	G	1328774	5	3	65	1	0	0	0	0	0	0	1	0	2932	173	6	3	955	3	CCNL2	1	1328774	Splice_Site	SNP	A	TCGA-BR-8081-01A-11D-2340-08	38937	1328774	247921847	2	46828											
ACTRT2	140625	broad.mit.edu	37	chr1	2939080	2939080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagccagagccccgggctctCgaatatggtctccagcagca	11	15	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:2939080C>T	uc001ajz.2	+	1	1035	c.830C>T	c.(829-831)TCG>TTG	p.S277L		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	277						cytoplasm|cytoskeleton					0	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCCGGGCTCTCGAATATGGTC	0.642													T	2939080	C	T	2939080	3	4	65	1	0	0	0	0	1	0	0	0	219	893	31	1	832	1	ACTRT2	1	2939080	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1610306	2939080	246311541	3	46829											
ARHGEF16	27237	broad.mit.edu	37	chr1	3390004	3390004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgagagagattgagaggcGgccggcgtgcgggggcctgc	20	10	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:3390004G>A	uc001akg.3	+	8	1471	c.1223G>A	c.(1222-1224)CGG>CAG	p.R408Q	ARHGEF16_uc001aki.2_Missense_Mutation_p.R120Q|ARHGEF16_uc001akj.2_Missense_Mutation_p.R120Q|ARHGEF16_uc009vli.1_Missense_Mutation_p.R112Q|ARHGEF16_uc010nzh.1_Missense_Mutation_p.R112Q	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	408	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ATTGAGAGGCGGCCGGCGTGC	0.647													A	3390004	G	A	3390004	3	1	65	1	0	0	0	0	1	0	0	0	899	1116	39	1	1249	1	ARHGEF16	1	3390004	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	450924	3390004	245860617	4	46830											
CHD5	26038	broad.mit.edu	37	chr1	6215730	6215730	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgagaacaggtagtccacGtcgtccaggccccactcggc	11	16	0	1	rs140138233		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:6215730G>A	uc001amb.1	-	4	535	c.435C>T	c.(433-435)GAC>GAT	p.D145D		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	145					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGTAGTCCACGTCGTCCAGGC	0.617													A	6215730	G	A	6215730	2	1	65	1	0	0	0	0	0	0	0	1	3328	1136	40	1		1	CHD5	1	6215730	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2825726	6215730	243034891	5	46831											
NOL9	79707	broad.mit.edu	37	chr1	6585974	6585974	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctctttatgtgcctcctcAggttctcttgctccaatttt	5	12	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:6585974A>G	uc001ans.2	-	12	2068	c.2049T>C	c.(2047-2049)CCT>CCC	p.P683P	NOL9_uc010nzs.1_RNA	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	683					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			skin(1)	1	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GTGCCTCCTCAGGTTCTCTTG	0.423													G	6585974	A	G	6585974	2	3	65	1	0	0	0	0	0	0	0	1	10528	175	7	3		3	NOL9	1	6585974	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	370244	6585974	242664647	6	46832											
THAP3	90326	broad.mit.edu	37	chr1	6692557	6692557	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggccacgtaaaacaggTaagactgagtgcaaaggtgg	14	7	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:6692557T>C	uc001aoc.2	+	5	597	c.438_splice	c.e5+2	p.Q146_splice	THAP3_uc001aod.2_Splice_Site_p.Q145_splice|THAP3_uc001aoe.1_Splice_Site_p.Q153_splice			Q8WTV1	THAP3_HUMAN	RecName: Full=THAP domain-containing protein 3;								DNA binding|metal ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GTAAAACAGGTAAGACTGAGT	0.547													C	6692557	T	C	6692557	5	2	65	1	0	0	0	0	0	0	1	0	15842	1652	57	3	475	3	THAP3	1	6692557	Splice_Site	SNP	T	TCGA-BR-8081-01A-11D-2340-08	106583	6692557	242558064	7	46833											
PIK3CD	5293	broad.mit.edu	37	chr1	9780209	9780209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccccacgggcactgtgcGcagtaaccccaacacggata	10	15	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:9780209G>A	uc001aqb.3	+	11	1587	c.1379G>A	c.(1378-1380)CGC>CAC	p.R460H	PIK3CD_uc010oaf.1_Missense_Mutation_p.R460H|PIK3CD_uc001aqe.3_Missense_Mutation_p.R425H	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	460					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(4)|skin(2)|central_nervous_system(1)	7	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GGCACTGTGCGCAGTAACCCC	0.637													A	9780209	G	A	9780209	3	1	65	1	0	0	0	0	1	0	0	0	11915	1087	38	1	1413	1	PIK3CD	1	9780209	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	3087652	9780209	239470412	8	46834											
LZIC	84328	broad.mit.edu	37	chr1	9990468	9990469	+	Frame_Shift_Ins	INS	-	-	T													gcaccatgtcatttttttgtINStttttcaacctcaaaacttg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:9990467_9990468G>GT	uc010oah.2	-	7	693_694	c.625_626C>AC	c.(625-627)acafs	p.T209fs	LZIC_uc001aqm.3_Frame_Shift_Ins_p.T188fs|LZIC_uc001aqo.3_Frame_Shift_Ins_p.T188fs|LZIC_uc009vmr.3_Frame_Shift_Ins_p.T188fs	NM_032368	NP_115744	Q8WZA0	LZIC_HUMAN	Homo sapiens leucine zipper and CTNNBIP1 domain containing (LZIC), mRNA.	188							beta-catenin binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)		TCATTTTTTTGTTTTTTCAACC	0.332													T	9990469	-	T	9990468	7	5	65	1	0	1	1	0	0	0	0	0	9135	1725	60	0	14	0	LZIC	1	9990468	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	210259	9990468	239260153	9	46835											
KIF1B	23095	broad.mit.edu	37	chr1	10318557	10318557	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttactctttacagcccgaaGatccctgttttgcatctcaa	5	12	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:10318557G>A	uc001aqx.3	+	4	392	c.190G>A	c.(190-192)GAT>AAT	p.D64N	KIF1B_uc001aqv.3_Missense_Mutation_p.D64N|KIF1B_uc001aqw.3_Missense_Mutation_p.D64N|KIF1B_uc001aqy.2_Missense_Mutation_p.D64N|KIF1B_uc001aqz.2_Missense_Mutation_p.D64N|KIF1B_uc001ara.2_Missense_Mutation_p.D64N|KIF1B_uc001arb.2_Missense_Mutation_p.D64N|KIF1B_uc009vmt.2_RNA	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	64	Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACAGCCCGAAGATCCCTGTTT	0.358													A	10318557	G	A	10318557	3	1	65	1	0	0	0	0	1	0	0	0	8284	942	33	4	200	4	KIF1B	1	10318557	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	328089	10318557	238932064	10	46836											
PTCHD2	57540	broad.mit.edu	37	chr1	11579854	11579854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctccaacacgggcagccGcggccatctcatcgtgcagc	11	17	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:11579854G>A	uc001ash.3	+	9	2255	c.2117G>A	c.(2116-2118)CGC>CAC	p.R706H	PTCHD2_uc001asi.1_Missense_Mutation_p.R706H	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	706	Cytoplasmic (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACGGGCAGCCGCGGCCATCTC	0.667													A	11579854	G	A	11579854	3	1	65	1	0	0	0	0	1	0	0	0	12733	1087	38	1	2147	1	PTCHD2	1	11579854	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1261297	11579854	237670767	11	46837											
FBXO44	93611	broad.mit.edu	37	chr1	11718602	11718602	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccagcacctgcctcaaGtcccaggtggtggacctcaa	10	17	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:11718602G>A	uc001asm.2	+	4	531	c.405G>A	c.(403-405)AAG>AAA	p.K135K	FBXO44_uc001ask.2_Intron|FBXO44_uc010oaq.1_3'UTR|FBXO44_uc001asl.2_Silent_p.K135K|FBXO44_uc001asn.2_Intron|FBXO44_uc010oar.1_Missense_Mutation_p.V126I|FBXO44_uc010oas.1_Intron	NM_033182	NP_149438	Q9H4M3	FBX44_HUMAN	F-box protein 44 isoform 1	135	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCCTCAAGTCCCAGGTGG	0.657													A	11718602	G	A	11718602	2	1	65	1	0	0	0	0	0	0	0	1	5753	1020	36	4		4	FBXO44	1	11718602	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	138748	11718602	237532019	12	46838											
VPS13D	55187	broad.mit.edu	37	chr1	12405567	12405567	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaattcatcttcctctacgGtgtgtgacattcaggaagtc	8	9	4	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:12405567G>A	uc001atv.2	+	43	9162	c.9021_splice	c.e43+1	p.T3007_splice	VPS13D_uc001atw.2_Splice_Site_p.T2982_splice|VPS13D_uc001atx.2_Splice_Site_p.T2194_splice	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1						protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTCCTCTACGGTGTGTGACAT	0.433													A	12405567	G	A	12405567	5	1	65	1	0	0	0	0	0	0	1	0	17189	1275	44	4	9188	4	VPS13D	1	12405567	Splice_Site	SNP	G	TCGA-BR-8081-01A-11D-2340-08	686965	12405567	236845054	13	46839											
PRDM2	7799	broad.mit.edu	37	chr1	14105136	14105136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgaagaagaagaagaAgatgatgatgatgatgagtt	15	0	0	11			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:14105136A>T	uc001avi.2	+	8	1702	c.846A>T	c.(844-846)GAA>GAT	p.E282D	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.E282D|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.E39D|PRDM2_uc001avk.2_Missense_Mutation_p.E81D|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	282	Asp/Glu-rich (acidic).			EDEEEEEDDDDDELEDEG -> VGGGGGVVVVVSWKARGE (in Ref. 4; AAA87023).		Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		aagaagaagaagatgatgatg	0.259													T	14105136	A	T	14105136	3	4	65	1	0	0	0	0	1	0	0	0	12458	69	3	5	872	5	PRDM2	1	14105136	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	1699569	14105136	235145485	14	46840											
SPEN	23013	broad.mit.edu	37	chr1	16259385	16259385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgaaacagagctggctgCggccatcggctccatcatca	11	12	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:16259385C>T	uc001axk.1	+	11	6854	c.6650C>T	c.(6649-6651)GCG>GTG	p.A2217V	SPEN_uc010obp.1_Missense_Mutation_p.A2176V	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2217	RID.|Interaction with MSX2 (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAGCTGGCTGCGGCCATCGGC	0.577													T	16259385	C	T	16259385	3	4	65	1	0	0	0	0	1	0	0	0	15037	768	27	1	6692	1	SPEN	1	16259385	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2154249	16259385	232991236	15	46841											
PADI3	51702	broad.mit.edu	37	chr1	17601227	17601227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagccctccagtggtggCcaatgggaaagagtaccccc	13	13	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:17601227C>T	uc001bai.2	+	11	1293	c.1253C>T	c.(1252-1254)GCC>GTC	p.A418V		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	418					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCAGTGGTGGCCAATGGGAAA	0.607											OREG0013148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	17601227	C	T	17601227	3	4	65	1	0	0	0	0	1	0	0	0	11379	739	26	2	1295	2	PADI3	1	17601227	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1341842	17601227	231649394	16	46842											
PADI3	51702	broad.mit.edu	37	chr1	17609502	17609502	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actccataccacatgctgcaTggggaggtgcactgtggcac	12	12	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:17609502T>C	uc001bai.2	+	16	1963	c.1923T>C	c.(1921-1923)CAT>CAC	p.H641H		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	641					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ACATGCTGCATGGGGAGGTGC	0.592													C	17609502	T	C	17609502	2	2	65	1	0	0	0	0	0	0	0	1	11379	1461	51	3		3	PADI3	1	17609502	Silent	SNP	T	TCGA-BR-8081-01A-11D-2340-08	8275	17609502	231641119	17	46843											
PADI6	353238	broad.mit.edu	37	chr1	17727905	17727905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatccgccgggtgccctttGccttcaaatggtggaagatg	12	11	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:17727905G>A	uc001bak.1	+	17	2056	c.2056G>A	c.(2056-2058)GCC>ACC	p.A686T		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	peptidylarginine deiminase type 6	678				A -> T (in Ref. 1; AAR38850).	peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGTGCCCTTTGCCTTCAAATG	0.572													A	17727905	G	A	17727905	3	1	65	1	0	0	0	0	1	0	0	0	11381	1319	46	2	2119	2	PADI6	1	17727905	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	118403	17727905	231522716	18	46844											
UBR4	23352	broad.mit.edu	37	chr1	19467976	19467976	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggggagaggggttgcCattgttgacattttcagctg	14	8	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:19467976C>A	uc001bbi.2	-	57	8357	c.8353G>T	c.(8353-8355)GGC>TGC	p.G2785C	UBR4_uc001bbk.1_Missense_Mutation_p.G467C	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2785					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GAGGGGTTGCCATTGTTGACA	0.557													A	19467976	C	A	19467976	3	1	65	1	0	0	0	0	1	0	0	0	16901	594	21	5	7398	5	UBR4	1	19467976	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1740071	19467976	229782645	19	46845											
UBR4	23352	broad.mit.edu	37	chr1	19488197	19488197	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacactgtgcagacacccacGccatccaccattttacaggt	6	16	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:19488197G>A	uc001bbi.2	-	37	5065	c.5061C>T	c.(5059-5061)GGC>GGT	p.G1687G	UBR4_uc001bbm.1_Silent_p.G898G	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1687	UBR-type.				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGACACCCACGCCATCCACCA	0.483													A	19488197	G	A	19488197	2	1	65	1	0	0	0	0	0	0	0	1	16901	1074	38	1		1	UBR4	1	19488197	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	20221	19488197	229762424	20	46846											
PQLC2	54896	broad.mit.edu	37	chr1	19652849	19652849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagggaagccttccgggggCgggcgctcctgtccgtggag	18	12	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:19652849C>T	uc001bby.2	+	6	845	c.493C>T	c.(493-495)CGG>TGG	p.R165W	PQLC2_uc001bbz.2_Missense_Mutation_p.R100W|PQLC2_uc001bca.2_Missense_Mutation_p.R165W|PQLC2_uc001bcb.2_Missense_Mutation_p.R54W|PQLC2_uc001bcc.2_Missense_Mutation_p.R54W	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	165	Extracellular (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCCGGGGGCGGGCGCTCCT	0.692													T	19652849	C	T	19652849	3	4	65	1	0	0	0	0	1	0	0	0	12419	759	27	1	507	1	PQLC2	1	19652849	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	164652	19652849	229597772	21	46847											
HP1BP3	50809	broad.mit.edu	37	chr1	21097459	21097459	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatttaattctcttttcagTgcttgtttaaggagataacc	6	7	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:21097459T>C	uc001bdw.1	-	6	758	c.618A>G	c.(616-618)GCA>GCG	p.A206A	HP1BP3_uc001bdv.1_Silent_p.A168A|HP1BP3_uc010odh.1_Silent_p.A168A|HP1BP3_uc001bdy.1_Silent_p.A206A|HP1BP3_uc001bdz.2_RNA|HP1BP3_uc001bea.2_Silent_p.A205A|HP1BP3_uc010odg.1_Silent_p.A54A	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	HP1-BP74	206	H15 1.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|skin(1)	2		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		CTCTTTTCAGTGCTTGTTTAA	0.368													C	21097459	T	C	21097459	2	2	65	1	0	0	0	0	0	0	0	1	7328	1683	59	3		3	HP1BP3	1	21097459	Silent	SNP	T	TCGA-BR-8081-01A-11D-2340-08	1444610	21097459	228153162	22	46848											
LDLRAD2	401944	broad.mit.edu	37	chr1	22140919	22140919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggaactgtgcgggcagacGtggcagggggacgggctgct	21	9	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:22140919G>A	uc001bfg.1	+	2	301	c.114G>A	c.(112-114)ACG>ACA	p.T38T		NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain	38	Extracellular (Potential).					integral to membrane	receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		GCGGGCAGACGTGGCAGGGGG	0.468													A	22140919	G	A	22140919	2	1	65	1	0	0	0	0	0	0	0	1	8706	1132	40	1		1	LDLRAD2	1	22140919	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1043460	22140919	227109702	23	46849											
HSPG2	3339	broad.mit.edu	37	chr1	22176669	22176669	+	Frame_Shift_Del	DEL	G	G	-													gatgactcgatccggaccgtGggggtgaccccaagtgctgg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:22176668_22176668TG>T	uc009vqd.3	-	56	7355	c.7315_7315CA>A	c.(7315-7317)acgfs	p.T2439fs	HSPG2_uc001bfj.3_Frame_Shift_Del_p.T2438fs	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2438	Ig-like C2-type 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ATCCGGACCGTGGGGGTGACC	0.632													-	22176669	G	-	22176669	7	5	65	1	0	1	0	1	0	0	0	0	7430	1335	47	0	6028	0	HSPG2	1	22176669	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	35750	22176669	227073952	24	46850											
HSPG2	3339	broad.mit.edu	37	chr1	22188329	22188329	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccaggctctcacaggtgcGggaaaacctgggatcgggga	15	11	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:22188329G>T	uc001bfj.2	-	39	4916	c.4876C>A	c.(4876-4878)CGC>AGC	p.R1626S	HSPG2_uc009vqd.2_Missense_Mutation_p.R1627S	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	1626	Laminin EGF-like 11.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TCACAGGTGCGGGAAAACCTG	0.587													T	22188329	G	T	22188329	3	4	65	1	0	0	0	0	1	0	0	0	7430	1116	39	5	8535	5	HSPG2	1	22188329	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	11660	22188329	227062292	25	46851											
ASAP3	55616	broad.mit.edu	37	chr1	23758199	23758199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaccaacctgaatctgaCggggaggtacatctccgaag	10	13	3	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:23758199C>T	uc001bha.2	-	23	2660	c.2536G>A	c.(2536-2538)GTC>ATC	p.V846I	ASAP3_uc001bgy.1_Missense_Mutation_p.V350I|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Missense_Mutation_p.V736I|ASAP3_uc010oea.1_Missense_Mutation_p.V837I|ASAP3_uc001bhb.2_Intron	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	846					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						CTGAATCTGACGGGGAGGTAC	0.398													T	23758199	C	T	23758199	3	4	65	1	0	0	0	0	1	0	0	0	1012	536	19	1	187	1	ASAP3	1	23758199	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1569870	23758199	225492422	26	46852											
C1orf63	57035	broad.mit.edu	37	chr1	25571717	25571717	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggaacagttctgagactaGctggcaagtcaatgttggtt	12	6	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:25571717G>T	uc001bjw.2	-	3	848	c.596C>A	c.(595-597)GCT>GAT	p.A199D		NM_020317	NP_064713	Q9BUV0	CA063_HUMAN	hypothetical protein LOC57035	199										pancreas(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCTGAGACTAGCTGGCAAGTC	0.398													T	25571717	G	T	25571717	3	4	65	1	0	0	0	0	1	0	0	0	2053	971	34	5	288	5	C1orf63	1	25571717	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1813518	25571717	223678904	27	46853											
CNKSR1	10256	broad.mit.edu	37	chr1	26514778	26514779	+	Frame_Shift_Ins	INS	-	-	C													taccagtctccaggccgggcINSccccccaccccgagaggaag							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:26514777_26514778G>GC	uc001bln.4	+	16	1586_1587	c.1528_1529G>GC	c.(1528-1530)gccfs	p.A510fs	CNKSR1_uc001blm.4_Frame_Shift_Ins_p.A503fs|CNKSR1_uc009vsd.3_Frame_Shift_Ins_p.A245fs|CNKSR1_uc009vse.3_Frame_Shift_Ins_p.A245fs|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	510					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	p.A503T(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGGCCGGGCCCCCCCACCC	0.604													C	26514779	-	C	26514778	7	5	65	1	0	1	1	0	0	0	0	0	3606	739	26	0	1574	0	CNKSR1	1	26514778	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	943061	26514778	222735843	28	46854											
ARID1A	8289	broad.mit.edu	37	chr1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-													tgctgcactggcggattggtGggggggacaccactgagcat							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACA	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27105931	G	-	27105931	7	5	65	1	0	1	0	1	0	0	0	0	913	1348	47	0	5620	0	ARID1A	1	27105931	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	591153	27105931	222144690	29	46855											
WDTC1	23038	broad.mit.edu	37	chr1	27621108	27621109	+	Frame_Shift_Ins	INS	-	-	G													cagagctactagtcaacatgINSgggggggaacaggtatgtac					rs145339479		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:27621107_27621108T>TG	uc009vst.2	+	8	1395_1396	c.860_861T>TG	c.(859-861)atgfs	p.M287fs	WDTC1_uc001bno.3_Frame_Shift_Ins_p.M287fs|WDTC1_uc001bnp.1_Non-coding_Transcript|WDTC1_uc001bnq.3_5'Flank	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA.	287							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTAGTCAACATGGGGGGGGAAC	0.54													G	27621109	-	G	27621108	7	5	65	1	0	1	1	0	0	0	0	0	17339	1348	47	0	891	0	WDTC1	1	27621108	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	515177	27621108	221629513	30	46856											
MAP3K6	9064	broad.mit.edu	37	chr1	27687240	27687240	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgatggcgatgcgcaccctCgtgtggcgatcgcggcccgc	15	14	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:27687240C>T	uc001bny.1	-	15	2259	c.2010G>A	c.(2008-2010)ACG>ACA	p.T670T	MAP3K6_uc009vsw.1_Silent_p.T662T|MAP3K6_uc001bnz.1_Silent_p.T193T	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	670	Protein kinase.				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGCGCACCCTCGTGTGGCGAT	0.701													T	27687240	C	T	27687240	2	4	65	1	0	0	0	0	0	0	0	1	9254	871	31	1		1	MAP3K6	1	27687240	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	66132	27687240	221563381	31	46857											
MATN1	4146	broad.mit.edu	37	chr1	31189718	31189718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgggggagctgatgcacaCctgctcacagtcatggtccc	12	14	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:31189718C>T	uc001brz.2	-	4	743	c.709G>A	c.(709-711)GTG>ATG	p.V237M	uc001bsb.1_5'Flank|MATN1_uc001bsa.1_Missense_Mutation_p.V155M	NM_002379	NP_002370	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein precursor	237	EGF-like.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)	1		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		CTGATGCACACCTGCTCACAG	0.592													T	31189718	C	T	31189718	3	4	65	1	0	0	0	0	1	0	0	0	9333	507	18	4	801	4	MATN1	1	31189718	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	3502478	31189718	218060903	32	46858											
BAI2	576	broad.mit.edu	37	chr1	32207516	32207516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgccagcctgtgtcacaCgtcttagagcacaggctcca	10	15	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:32207516C>T	uc001btn.2	-	9	1824	c.1470G>A	c.(1468-1470)ACG>ACA	p.T490T	BAI2_uc010ogo.1_Silent_p.T132T|BAI2_uc010ogp.1_Silent_p.T423T|BAI2_uc010ogq.1_Silent_p.T490T|BAI2_uc001bto.2_Silent_p.T490T|BAI2_uc001btq.1_Silent_p.T423T|BAI2_uc010ogr.1_Silent_p.T423T	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	490	TSP type-1 4.|Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGTGTCACACGTCTTAGAGC	0.642													T	32207516	C	T	32207516	2	4	65	1	0	0	0	0	0	0	0	1	1299	523	19	1		1	BAI2	1	32207516	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1017798	32207516	217043105	33	46859											
KPNA6	23633	broad.mit.edu	37	chr1	32623924	32623924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagagtggtggatcggttcGtggagtttctgaagaggaat	16	4	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:32623924G>A	uc001bug.2	+	5	476	c.388G>A	c.(388-390)GTG>ATG	p.V130M	KPNA6_uc001buh.2_Translation_Start_Site|KPNA6_uc010ogx.1_Missense_Mutation_p.V127M|KPNA6_uc010ogy.1_Missense_Mutation_p.V135M|KPNA6_uc009vtz.2_Missense_Mutation_p.V69M	NM_012316	NP_036448	O60684	IMA7_HUMAN	karyopherin alpha 6	130	ARM 2.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGATCGGTTCGTGGAGTTTCT	0.373													A	32623924	G	A	32623924	3	1	65	1	0	0	0	0	1	0	0	0	8434	1145	40	1	406	1	KPNA6	1	32623924	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	416408	32623924	216626697	34	46860											
ZNF362	149076	broad.mit.edu	37	chr1	33764618	33764618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagaggacggagtcccccGgcatcccggtgcgaatctct	12	16	1	1	rs35620942	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:33764618G>A	uc001bxc.1	+	9	1404	c.1234G>A	c.(1234-1236)GGC>AGC	p.G412S		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGAGTCCCCCGGCATCCCGGT	0.662											OREG0013343	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	33764618	G	A	33764618	3	1	65	1	0	0	0	0	1	0	0	0	17865	1116	39	1	1264	1	ZNF362	1	33764618	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1140694	33764618	215486003	35	46861											
CSMD2	114784	broad.mit.edu	37	chr1	33985245	33985245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattggtgttctcgtggccaGcatagccattgaaaggaact	11	9	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:33985245G>A	uc001bxn.1	-	69	10366	c.10337C>T	c.(10336-10338)GCT>GTT	p.A3446V	CSMD2_uc001bxm.1_Missense_Mutation_p.A3590V	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3446	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTCGTGGCCAGCATAGCCATT	0.542													A	33985245	G	A	33985245	3	1	65	1	0	0	0	0	1	0	0	0	3945	971	34	2	130	2	CSMD2	1	33985245	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	220627	33985245	215265376	36	46862											
NCDN	23154	broad.mit.edu	37	chr1	36026370	36026370	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggggctgctggctgctgcCgagacacagtgctggaagga	18	9	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:36026370C>T	uc001bza.2	+	4	745	c.618C>T	c.(616-618)GCC>GCT	p.A206A	KIAA0319L_uc010ohw.1_5'Flank|NCDN_uc001bzb.2_Silent_p.A206A|NCDN_uc001bzc.2_Silent_p.A189A	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	206					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGGCTGCTGCCGAGACACAGT	0.637													T	36026370	C	T	36026370	2	4	65	1	0	0	0	0	0	0	0	1	10214	639	23	1		1	NCDN	1	36026370	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2041125	36026370	213224251	37	46863											
NCDN	23154	broad.mit.edu	37	chr1	36028834	36028834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctggtgccacctgaccGttgaagatgggccccgggag	16	12	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:36028834G>A	uc001bza.2	+	6	1544	c.1417G>A	c.(1417-1419)GTT>ATT	p.V473I	NCDN_uc001bzb.2_Missense_Mutation_p.V473I|NCDN_uc001bzc.2_Missense_Mutation_p.V456I	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	473					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCACCTGACCGTTGAAGATGG	0.582													A	36028834	G	A	36028834	3	1	65	1	0	0	0	0	1	0	0	0	10214	1145	40	1	1435	1	NCDN	1	36028834	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2464	36028834	213221787	38	46864											
TFAP2E	339488	broad.mit.edu	37	chr1	36056352	36056352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgggggagctgcacagccGcaagagcatgctgctggctg	16	13	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:36056352G>A	uc010ohy.1	+	6	1230	c.1022G>A	c.(1021-1023)CGC>CAC	p.R341H	PSMB2_uc001bzd.1_Intron	NM_178548	NP_848643	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating	341	H-S-H (helix-span-helix), dimerization.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CTGCACAGCCGCAAGAGCATG	0.622													A	36056352	G	A	36056352	3	1	65	1	0	0	0	0	1	0	0	0	15788	1087	38	1	1044	1	TFAP2E	1	36056352	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	27518	36056352	213194269	39	46865											
MACF1	23499	broad.mit.edu	37	chr1	39910508	39910508	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaagatggaagaaagaaagGtacagtgtatgatccccatg	12	5	0	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:39910508G>A	uc010oiu.1	+	45	15065	c.14934_splice	c.e45+1	p.K4978_splice	MACF1_uc010ois.1_Splice_Site_p.K4476_splice	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker						cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAAGAAAGGTACAGTGTAT	0.413													A	39910508	G	A	39910508	5	1	65	1	0	0	0	0	0	0	1	0	9144	1275	44	4	19882	4	MACF1	1	39910508	Splice_Site	SNP	G	TCGA-BR-8081-01A-11D-2340-08	3854156	39910508	209340113	40	46866											
NT5C1A	84618	broad.mit.edu	37	chr1	40124850	40124850	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccggggtgtctgtgccacAccataaggcacatgggcggc	15	13	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:40124850A>G	uc001cdq.1	-	6	1050	c.1050T>C	c.(1048-1050)GGT>GGC	p.G350G		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	350					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCTGTGCCACACCATAAGGCA	0.582													G	40124850	A	G	40124850	2	3	65	1	0	0	0	0	0	0	0	1	10685	146	6	3		3	NT5C1A	1	40124850	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	214342	40124850	209125771	41	46867											
YBX1	4904	broad.mit.edu	37	chr1	43166532	43166532	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagatgagacccaaggtcAgcagccacctcaacgtcggt	12	12	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:43166532A>C	uc001chs.2	+	7	992	c.821A>C	c.(820-822)CAG>CCG	p.Q274P		NM_004559	NP_004550	P67809	YBOX1_HUMAN	nuclease sensitive element binding protein 1	274					CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			ovary(4)|upper_aerodigestive_tract(1)	5	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCCAAGGTCAGCAGCCACCT	0.517													C	43166532	A	C	43166532	3	2	65	1	0	0	0	0	1	0	0	0	17466	188	7	5	847	5	YBX1	1	43166532	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	3041682	43166532	206084089	42	46868											
C1orf50	79078	broad.mit.edu	37	chr1	43240471	43240471	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgtaatatagtgaaaaaaCctggcaacatttactatctc	5	8	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:43240471C>A	uc001cia.3	+	4	413	c.346C>A	c.(346-348)CCT>ACT	p.P116T		NM_024097	NP_077002	Q9BV19	CA050_HUMAN	hypothetical protein LOC79078	116										ovary(1)	1	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGTGAAAAAACCTGGCAACAT	0.373													A	43240471	C	A	43240471	3	1	65	1	0	0	0	0	1	0	0	0	2042	507	18	5	360	5	C1orf50	1	43240471	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	73939	43240471	206010150	43	46869											
PTPRF	5792	broad.mit.edu	37	chr1	44069443	44069443	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccatagatttcggcaaggatGaccagcacttcacagtcacc	8	13	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:44069443G>A	uc001cjr.2	+	16	2960	c.2620G>A	c.(2620-2622)GAC>AAC	p.D874N	PTPRF_uc001cjs.2_Missense_Mutation_p.D865N|PTPRF_uc001cju.2_Intron|PTPRF_uc009vwt.2_Missense_Mutation_p.D434N|PTPRF_uc001cjv.2_Missense_Mutation_p.D334N|PTPRF_uc001cjw.2_Missense_Mutation_p.D100N	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	874	Extracellular (Potential).|Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGGCAAGGATGACCAGCACTT	0.632													A	44069443	G	A	44069443	3	1	65	1	0	0	0	0	1	0	0	0	12801	1290	45	4	2674	4	PTPRF	1	44069443	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	828972	44069443	205181178	44	46870											
SLC6A9	6536	broad.mit.edu	37	chr1	44482788	44482788	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgagcgatcgcagcccgCgtgtctccgccgctcattca	13	16	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:44482788C>T	uc001cll.2	-	1	210	c.18G>A	c.(16-18)ACG>ACA	p.T6T	SLC6A9_uc009vxe.2_5'Flank|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.2_Silent_p.T6T|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Silent_p.T6T|SLC6A9_uc001cln.2_Intron|SLC6A9_uc010oko.1_Intron|SLC6A9_uc010okp.1_Intron	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	6	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TCGCAGCCCGCGTGTCTCCGC	0.652													T	44482788	C	T	44482788	2	4	65	1	0	0	0	0	0	0	0	1	14691	755	27	1		1	SLC6A9	1	44482788	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	413345	44482788	204767833	45	46871											
DMAP1	55929	broad.mit.edu	37	chr1	44680454	44680454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgggctccaagaaggtgCggccttggaagtggatgcca	16	8	0	1	rs34697342	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:44680454C>T	uc001clq.1	+	4	357	c.277C>T	c.(277-279)CGG>TGG	p.R93W	DMAP1_uc010okq.1_Missense_Mutation_p.R119W|DMAP1_uc010okr.1_Missense_Mutation_p.R93W|DMAP1_uc010oks.1_Missense_Mutation_p.R93W|DMAP1_uc010okt.1_Missense_Mutation_p.R93W|DMAP1_uc001clr.1_Missense_Mutation_p.R93W|DMAP1_uc001cls.1_Missense_Mutation_p.R93W|DMAP1_uc010oku.1_Missense_Mutation_p.R93W	NM_001034024	NP_001029196	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	93					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					CAAGAAGGTGCGGCCTTGGAA	0.612													T	44680454	C	T	44680454	3	4	65	1	0	0	0	0	1	0	0	0	4576	759	27	1	287	1	DMAP1	1	44680454	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	197666	44680454	204570167	46	46872											
ERI3	79033	broad.mit.edu	37	chr1	44713617	44713617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaagggactgaccaatgcCgctgtggggccggcctatgt	16	11	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:44713617C>T	uc001clt.2	-	8	1166	c.925G>A	c.(925-927)GGC>AGC	p.G309S	ERI3_uc010okv.1_Missense_Mutation_p.G132S|ERI3_uc009vxg.2_Missense_Mutation_p.G337S|ERI3_uc010okw.1_Missense_Mutation_p.G231S|ERI3_uc001clu.2_Intron	NM_024066	NP_076971	O43414	ERI3_HUMAN	prion protein interacting protein	309	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding			ovary(2)|large_intestine(1)	3						TGACCAATGCCGCTGTGGGGC	0.602													T	44713617	C	T	44713617	3	4	65	1	0	0	0	0	1	0	0	0	5229	652	23	1	96	1	ERI3	1	44713617	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	33163	44713617	204537004	47	46873											
HPDL	84842	broad.mit.edu	37	chr1	45793416	45793416	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtgaggatcccgagcTgggcctcgaaatgacagcag	14	12	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:45793416T>C	uc001cne.2	+	1	872	c.596T>C	c.(595-597)CTG>CCG	p.L199P		NM_032756	NP_116145	Q96IR7	HPDL_HUMAN	glyoxalase domain containing 1	199					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding				0	Acute lymphoblastic leukemia(166;0.155)					GATCCCGAGCTGGGCCTCGAA	0.642													C	45793416	T	C	45793416	3	2	65	1	0	0	0	0	1	0	0	0	7333	1580	55	3	598	3	HPDL	1	45793416	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	1079799	45793416	203457205	48	46874											
LRRC41	10489	broad.mit.edu	37	chr1	46751495	46751496	+	Frame_Shift_Ins	INS	-	-	G													agcctcatgggaggtggctgINSgggggtgcagctccctctta							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:46751494_46751495T>TG	uc001cpn.3	-	3	1078_1079	c.1034_1035A>CA	c.(1033-1035)ccafs	p.P345fs	LRRC41_uc010omb.2_Frame_Shift_Ins_p.P345fs|LRRC41_uc001cpo.1_Frame_Shift_Ins_p.P345fs	NM_006369	NP_006360	Q15345	LRC41_HUMAN	Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA.	345										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGGAGGTGGCTGGGGGGTGCAG	0.619													G	46751496	-	G	46751495	7	5	65	1	0	1	1	0	0	0	0	0	8999	1348	47	0	1432	0	LRRC41	1	46751495	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	958079	46751495	202499126	49	46875											
FAAH	2166	broad.mit.edu	37	chr1	46876093	46876093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgatttcgtggacccctGcctgggggacctggtctcaa	14	11	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:46876093G>A	uc001cpu.2	+	10	1281	c.1199G>A	c.(1198-1200)TGC>TAC	p.C400Y	FAAH_uc001cpv.2_RNA	NM_001441	NP_001432	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	400	Cytoplasmic (By similarity).				fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GTGGACCCCTGCCTGGGGGAC	0.592													A	46876093	G	A	46876093	3	1	65	1	0	0	0	0	1	0	0	0	5353	1319	46	2	1237	2	FAAH	1	46876093	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	124598	46876093	202374528	50	46876											
TMEM48	55706	broad.mit.edu	37	chr1	54291559	54291559	+	Frame_Shift_Del	DEL	A	A	-													taaatgctccagtcagtaggAaaaaaagatgatattcattt							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:54291558_54291558GA>G	uc001cvs.3	-	4	798	c.507_507TC>C	c.(505-507)ttcfs	p.F169fs	TMEM48_uc010onu.2_Frame_Shift_Del_p.F129fs|TMEM48_uc001cvt.3_Frame_Shift_Del_p.F46fs|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_5'UTR	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	169					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						CAGTCAGTAGGAAAAAAAGAT	0.373													-	54291559	A	-	54291559	7	5	65	1	0	1	0	1	0	0	0	0	16169	246	9	0	1574	0	TMEM48	1	54291559	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	7415466	54291559	194959062	51	46877											
HOOK1	51361	broad.mit.edu	37	chr1	60314140	60314140	+	Frame_Shift_Del	DEL	A	A	-													gtcagcttagaagaagaattAaaaaaagcaaatgcagcacg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:60314139_60314139TA>T	uc009wad.3	+	11	1184	c.1082_1082TA>T	c.(1081-1083)ttafs	p.L361fs	HOOK1_uc001czo.3_Frame_Shift_Del_p.L361fs|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Frame_Shift_Del_p.L319fs	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	361	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GAAGAAGAATTAAAAAAAGCA	0.323													-	60314140	A	-	60314140	7	5	65	1	0	1	0	1	0	0	0	0	7282	359	13	0	1125	0	HOOK1	1	60314140	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	6022581	60314140	188936481	52	46878											
C1orf87	127795	broad.mit.edu	37	chr1	60506705	60506705	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccatctgttccaaggaCcagtctctaagctttctcct	5	15	4	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:60506705C>T	uc001czs.1	-	4	533	c.441G>A	c.(439-441)TGG>TGA	p.W147*		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	hypothetical protein LOC127795	147							calcium ion binding			ovary(1)|breast(1)	2						GTTCCAAGGACCAGTCTCTAA	0.478													T	60506705	C	T	60506705	4	4	65	1	0	0	0	0	0	1	0	0	2064	508	18	4	1235	4	C1orf87	1	60506705	Nonsense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	192565	60506705	188743916	53	46879											
USP1	7398	broad.mit.edu	37	chr1	62916034	62916034	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagctatggattatttgcGgttgtgatgcatagtggcat	13	5	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:62916034G>A	uc001daj.1	+	9	2068	c.1740G>A	c.(1738-1740)GCG>GCA	p.A580A	USP1_uc001dak.1_Silent_p.A580A|USP1_uc001dal.1_Silent_p.A580A	NM_001017415	NP_001017415	O94782	UBP1_HUMAN	ubiquitin specific protease 1	580					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)	1		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		GATTATTTGCGGTTGTGATGC	0.383													A	62916034	G	A	62916034	2	1	65	1	0	0	0	0	0	0	0	1	17037	1103	39	1		1	USP1	1	62916034	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2409329	62916034	186334587	54	46880											
DOCK7	85440	broad.mit.edu	37	chr1	63090936	63090936	+	Frame_Shift_Del	DEL	A	A	-													tgacagaacaatacctgcttAaaaaaatttgtcactgtgag							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:63090935_63090935TA>T	uc001daq.3	-	11	1454	c.1420_1420TA>A	c.(1420-1422)aagfs	p.K474fs	DOCK7_uc001dan.3_Frame_Shift_Del_p.K366fs|DOCK7_uc001dao.3_Frame_Shift_Del_p.K366fs|DOCK7_uc001dap.3_Frame_Shift_Del_p.K474fs|DOCK7_uc009wah.1_Frame_Shift_Del_p.K474fs	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	474					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AATACCTGCTTAAAAAAATTT	0.373													-	63090936	A	-	63090936	7	5	65	1	0	1	0	1	0	0	0	0	4692	359	13	0	5062	0	DOCK7	1	63090936	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	174902	63090936	186159685	55	46881											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507249	74507249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcaaatgttcattaacagCtactctaactctttctcgag	4	10	5	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:74507249C>T	uc001dfy.3	-	7	1558	c.1366G>A	c.(1366-1368)GCT>ACT	p.A456T	LRRIQ3_uc001dfz.3_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	456										ovary(2)	2						TCATTAACAGCTACTCTAACT	0.318													T	74507249	C	T	74507249	3	4	65	1	0	0	0	0	1	0	0	0	9030	797	28	2	516	2	LRRIQ3	1	74507249	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	11416313	74507249	174743372	56	46882											
LRRIQ3	127255	broad.mit.edu	37	chr1	74649285	74649285	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacttcacaaaaacaaaatcTttttgaccttctcttatgtt	2	9	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:74649285T>C	uc001dfy.3	-	2	276	c.84A>G	c.(82-84)AAA>AAG	p.K28K	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	28										ovary(2)	2						aaacaAAATCTTTTTGACCTT	0.179													C	74649285	T	C	74649285	2	2	65	1	0	0	0	0	0	0	0	1	9030	1606	56	3		3	LRRIQ3	1	74649285	Silent	SNP	T	TCGA-BR-8081-01A-11D-2340-08	142036	74649285	174601336	57	46883											
COL24A1	255631	broad.mit.edu	37	chr1	86591529	86591529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatagtaatggcaaatgagtGccattgctcatcatgaacac	8	8	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:86591529G>A	uc001dlj.2	-	3	532	c.490C>T	c.(490-492)CAC>TAC	p.H164Y	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.H164Y	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	164	TSP N-terminal.|Laminin G-like.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		GCAAATGAGTGCCATTGCTCA	0.363													A	86591529	G	A	86591529	3	1	65	1	0	0	0	0	1	0	0	0	3683	1319	46	2	4886	2	COL24A1	1	86591529	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	11942244	86591529	162659092	58	46884											
LMO4	8543	broad.mit.edu	37	chr1	87805253	87805253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtgcttgcagcgcttgcGgacagtcgattcctgcgagt	15	11	0	0	rs149550347		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:87805253G>A	uc001dmi.2	+	3	1051	c.271G>A	c.(271-273)GGA>AGA	p.G91R	LMO4_uc001dmj.2_Missense_Mutation_p.G91R	NM_006769	NP_006760	P61968	LMO4_HUMAN	LIM domain only 4	91	LIM zinc-binding 2.				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding				0		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		CAGCGCTTGCGGACAGTCGAT	0.383													A	87805253	G	A	87805253	3	1	65	1	0	0	0	0	1	0	0	0	8854	1117	39	1	277	1	LMO4	1	87805253	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1213724	87805253	161445368	59	46885											
ABCA4	24	broad.mit.edu	37	chr1	94497458	94497458	+	Frame_Shift_Del	DEL	G	G	-													ggcctgggcactctggctctGggggaggctggccctctggg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:94497457_94497457TG>T	uc001dqh.3	-	26	4109	c.4005_4005CA>A	c.(4003-4005)ccafs	p.P1335fs		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1335					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACTCTGGCTCTGGGGGAGGCT	0.657													-	94497458	G	-	94497458	7	5	65	1	0	1	0	1	0	0	0	0	34	1348	47	0	2913	0	ABCA4	1	94497458	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	6692205	94497458	154753163	60	46886											
LPPR4	9890	broad.mit.edu	37	chr1	99772446	99772446	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccatttcttcttcccgCgactccaccctgcggagaaa	7	16	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:99772446C>T	uc001dse.2	+	7	2278	c.2172C>T	c.(2170-2172)CGC>CGT	p.R724R	LPPR4_uc010oue.1_Silent_p.R666R	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	724							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTTCTTCCCGCGACTCCACCC	0.507													T	99772446	C	T	99772446	2	4	65	1	0	0	0	0	0	0	0	1	8927	755	27	1		1	LPPR4	1	99772446	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	5274988	99772446	149478175	61	46887											
AKNAD1	254268	broad.mit.edu	37	chr1	109369927	109369927	+	Splice_Site	DEL	A	A	-													ttctccacgttttgcttcctAaaaaaaggtgcataagatcc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:109369926_109369926TA>T	uc001dwa.3	-	11	2108	c.1839_splice	c.e11-1	p.W613_splice	AKNAD1_uc010ovb.2_Splice_Site_p.W320_splice|AKNAD1_uc001dwb.3_Splice_Site	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	613										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTTGCTTCCTAAAAAAAGGT	0.378													-	109369927	A	-	109369927	8	5	65	1	0	1	0	1	0	0	1	0	464	377	13	0		0	AKNAD1	1	109369927	Splice_Site	DEL	A	TCGA-BR-8081-01A-11D-2340-08	9597481	109369927	139880694	62	46888											
CLCC1	23155	broad.mit.edu	37	chr1	109484090	109484090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttaatggctccatcttggCgacttcagcctgatgctgtg	11	10	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:109484090C>T	uc001dwe.1	-	7	825	c.733G>A	c.(733-735)GCC>ACC	p.A245T	AKNAD1_uc010ovb.1_Intron|CLCC1_uc001dwf.1_Missense_Mutation_p.A245T|CLCC1_uc001dwg.1_Missense_Mutation_p.A195T|CLCC1_uc009wes.1_Missense_Mutation_p.A124T|CLCC1_uc009wet.1_Intron	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Mid-1-related chloride channel 1 isoform 1	245						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				liver(1)	1		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		TCCATCTTGGCGACTTCAGCC	0.468													T	109484090	C	T	109484090	3	4	65	1	0	0	0	0	1	0	0	0	3460	768	27	1	942	1	CLCC1	1	109484090	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	114163	109484090	139766531	63	46889											
GSTM3	2947	broad.mit.edu	37	chr1	110280306	110280306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcaaaccatgagaatttcCccagaaacatggagaattgt	9	9	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:110280306C>T	uc001dyo.2	-	7	750	c.440G>A	c.(439-441)GGG>GAG	p.G147E	GSTM3_uc001dyp.2_Missense_Mutation_p.G144E|GSTM3_uc010ovv.1_Missense_Mutation_p.G147E	NM_000849	NP_000840	P21266	GSTM3_HUMAN	glutathione S-transferase mu 3	147	GST C-terminal.			G -> W (in Ref. 1; AAA60964).	establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding				0		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TGAGAATTTCCCCAGAAACAT	0.438													T	110280306	C	T	110280306	3	4	65	1	0	0	0	0	1	0	0	0	6839	623	22	4	249	4	GSTM3	1	110280306	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	796216	110280306	138970315	64	46890											
DENND2C	163259	broad.mit.edu	37	chr1	115142883	115142883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggagagaggcacagacccGgatgagatgacacacactca	12	10	1	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:115142883G>A	uc001efd.1	-	15	2749	c.2047C>T	c.(2047-2049)CGG>TGG	p.R683W	DENND2C_uc001eez.2_Intron|DENND2C_uc001efc.1_Missense_Mutation_p.R626W	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	683	DENN.									skin(3)	3	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCACAGACCCGGATGAGATGA	0.423													A	115142883	G	A	115142883	3	1	65	1	0	0	0	0	1	0	0	0	4430	1115	39	1	767	1	DENND2C	1	115142883	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	4862577	115142883	134107738	65	46891											
IGSF3	3321	broad.mit.edu	37	chr1	117156549	117156549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggaaggtggtcctccccaGcttgtccagccgcacctccc	11	18	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:117156549G>A	uc001egr.1	-	4	1375	c.670C>T	c.(670-672)CTG>TTG	p.L224L	IGSF3_uc001egq.1_Silent_p.L224L	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	224	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GTCCTCCCCAGCTTGTCCAGC	0.622													A	117156549	G	A	117156549	2	1	65	1	0	0	0	0	0	0	0	1	7601	962	34	2		2	IGSF3	1	117156549	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2013666	117156549	132094072	66	46892											
CD101	9398	broad.mit.edu	37	chr1	117559831	117559831	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgtgagctggtggcacAtcccacgggaccagacacag	13	12	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:117559831A>G	uc010oxb.1	+	5	1406	c.1348A>G	c.(1348-1350)ATC>GTC	p.I450V	CD101_uc009whd.2_Missense_Mutation_p.I450V|CD101_uc010oxc.1_Missense_Mutation_p.I450V|CD101_uc010oxd.1_Missense_Mutation_p.I388V	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	450	Extracellular (Potential).|Ig-like C2-type 4.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						CTGGTGGCACATCCCACGGGA	0.572													G	117559831	A	G	117559831	3	3	65	1	0	0	0	0	1	0	0	0	2962	217	8	3	1366	3	CD101	1	117559831	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	403282	117559831	131690790	67	46893											
TTF2	8458	broad.mit.edu	37	chr1	117644049	117644050	+	Frame_Shift_Ins	INS	-	-	A													aagatcttacagctccaagaINSaaaaaagaaagatttggcca							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:117644048_117644049G>GA	uc001egy.3	+	22	3411_3412	c.3391_3392G>GA	c.(3391-3393)gaafs	p.E1131fs		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	1131	Helicase C-terminal.				RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		ACAGCTCCAAGAAAAAAAGAAA	0.381													A	117644050	-	A	117644049	7	5	65	1	0	1	1	0	0	0	0	0	16716	246	9	0	3482	0	TTF2	1	117644049	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	84218	117644049	131606572	68	46894											
CA14	23632	broad.mit.edu	37	chr1	150234016	150234016	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcaccgagcctttggacCtgcacaacaatggccacaca	9	15	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:150234016C>T	uc001etx.2	+	3	544	c.235C>T	c.(235-237)CTG>TTG	p.L79L		NM_012113	NP_036245	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV precursor	79	Extracellular (Potential).					integral to membrane	carbonate dehydratase activity|metal ion binding			ovary(1)	1	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCTTTGGACCTGCACAACAA	0.473													T	150234016	C	T	150234016	2	4	65	1	0	0	0	0	0	0	0	1	2515	680	24	4		4	CA14	1	150234016	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	32589967	150234016	99016605	69	46895											
RPRD2	23248	broad.mit.edu	37	chr1	150443735	150443735	+	Frame_Shift_Del	DEL	C	C	-													ccagcagtacaagatcaccaCcccctgggagagatgaaagc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:150443734_150443734AC>A	uc009wlr.3	+	10	2511	c.2310_2310AC>A	c.(2308-2310)ccafs	p.P770fs	RPRD2_uc010pcc.1_Frame_Shift_Del_p.P744fs|RPRD2_uc001eup.4_Frame_Shift_Del_p.P744fs	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	770	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAAGATCACCACCCCCTGGGA	0.498													-	150443735	C	-	150443735	7	5	65	1	0	1	0	1	0	0	0	0	13617	507	18	0	2353	0	RPRD2	1	150443735	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	209719	150443735	98806886	70	46896											
SEMA6C	10500	broad.mit.edu	37	chr1	151106915	151106915	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccagactgactcccagtaGctccatctatgaagaaggga	11	11	1	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:151106915G>T	uc001ewu.2	-	18	2021	c.1721C>A	c.(1720-1722)GCT>GAT	p.A574D	SEMA6C_uc001ewv.2_Missense_Mutation_p.A574D|SEMA6C_uc001eww.2_Missense_Mutation_p.A534D|SEMA6C_uc010pcq.1_Missense_Mutation_p.A574D	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	574	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|skin(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACTCCCAGTAGCTCCATCTAT	0.527													T	151106915	G	T	151106915	3	4	65	1	0	0	0	0	1	0	0	0	14041	971	34	5	1179	5	SEMA6C	1	151106915	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	663180	151106915	98143706	71	46897											
SEMA6C	10500	broad.mit.edu	37	chr1	151108068	151108068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctccaaaggcctcaccGggcagggctgtaggcatcaa	12	14	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:151108068G>A	uc001ewu.2	-	14	1732	c.1432C>T	c.(1432-1434)CGG>TGG	p.R478W	SEMA6C_uc001ewv.2_Missense_Mutation_p.R478W|SEMA6C_uc001eww.2_Missense_Mutation_p.R438W|SEMA6C_uc010pcq.1_Missense_Mutation_p.R478W	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	478	Extracellular (Potential).|Sema.					integral to membrane	receptor activity			ovary(1)|skin(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGGCCTCACCGGGCAGGGCTG	0.597													A	151108068	G	A	151108068	3	1	65	1	0	0	0	0	1	0	0	0	14041	1130	39	1	1484	1	SEMA6C	1	151108068	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1153	151108068	98142553	72	46898											
LINGO4	339398	broad.mit.edu	37	chr1	151773687	151773687	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacctggatgacttccagCcaggtcctcagggagtcatt	10	13	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:151773687C>T	uc001ezf.1	-	2	1684	c.1494G>A	c.(1492-1494)TGG>TGA	p.W498*		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	498	Extracellular (Potential).|Ig-like C2-type.					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGACTTCCAGCCAGGTCCTCA	0.567													T	151773687	C	T	151773687	4	4	65	1	0	0	0	0	0	1	0	0	8817	740	26	2	291	2	LINGO4	1	151773687	Nonsense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	665619	151773687	97476934	73	46899											
TCHH	7062	broad.mit.edu	37	chr1	152080052	152080052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcggatgtgttcttcccGtaatttcctttcccgttcct	9	13	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:152080052G>A	uc001ezp.2	-	2	5641	c.5641C>T	c.(5641-5643)CGG>TGG	p.R1881W	TCHH_uc009wne.1_Missense_Mutation_p.R1881W	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1881	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTTCTTCCCGTAATTTCCTT	0.562													A	152080052	G	A	152080052	3	1	65	1	0	0	0	0	1	0	0	0	15697	1144	40	1	194	1	TCHH	1	152080052	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	306365	152080052	97170569	74	46900											
TCHH	7062	broad.mit.edu	37	chr1	152085552	152085553	+	Frame_Shift_Del	DEL	TC	TC	-													accgtcttagggtcatgtggTctctataaaaatggtgaaaa							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:152085551_152085552GTC>G	uc009wne.1	-	2	413_414	c.141_142GAC>C	c.(139-144)agaccafs	p.R47fs	TCHH_uc001ezp.2_Frame_Shift_Del_p.R47fs	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	47	EF-hand 1.|S-100-like.				keratinization	cytoskeleton	calcium ion binding	p.R46L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGTCATGTGGTCTCTATAAAA	0.342													-	152085553	TC	-	152085552	7	5	65	1	0	1	0	1	0	0	0	0	15697	1664	58	0	5694	0	TCHH	1	152085552	Frame_Shift_Del	DEL	TC	TCGA-BR-8081-01A-11D-2340-08	5500	152085552	97165069	75	46901											
FLG	2312	broad.mit.edu	37	chr1	152276179	152276179	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcctccagtactgggcCcagcccgtccatgggcagac	11	16	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:152276179C>A	uc001ezu.1	-	3	11219	c.11183G>T	c.(11182-11184)GGG>GTG	p.G3728V		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3728	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTACTGGGCCCAGCCCGTCC	0.607									Ichthyosis				A	152276179	C	A	152276179	3	1	65	1	0	0	0	0	1	0	0	0	5922	623	22	5	1006	5	FLG	1	152276179	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	190627	152276179	96974442	76	46902											
LCE1C	353133	broad.mit.edu	37	chr1	152777656	152777656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacagcagctggagccccccGagggctggctgcagcagcca	14	16	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:152777656G>A	uc001fap.1	-	2	350	c.299C>T	c.(298-300)TCG>TTG	p.S100L		NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	100	Gly-rich.				keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAGCCCCCCGAGGGCTGGCT	0.667													A	152777656	G	A	152777656	3	1	65	1	0	0	0	0	1	0	0	0	8661	1059	37	1	61	1	LCE1C	1	152777656	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	501477	152777656	96472965	77	46903											
S100A7A	338324	broad.mit.edu	37	chr1	153390574	153390574	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaagatgagcaacactcaaGctgagaggtccataataggc	10	9	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:153390574G>T	uc001fbt.1	+	2	73	c.16G>T	c.(16-18)GCT>TCT	p.A6S		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7-like 1	6						cytoplasm	calcium ion binding			skin(1)	1	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAACACTCAAGCTGAGAGGTC	0.418													T	153390574	G	T	153390574	3	4	65	1	0	0	0	0	1	0	0	0	13784	971	34	5	18	5	S100A7A	1	153390574	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	612918	153390574	95860047	78	46904											
S100A6	6277	broad.mit.edu	37	chr1	153507253	153507253	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaagttcacctcctggtcCttgttccggtccaagtcttc	9	13	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:153507253C>A	uc001fbw.1	-	3	506	c.192G>T	c.(190-192)AAG>AAT	p.K64N		NM_014624	NP_055439	P06703	S10A6_HUMAN	S100 calcium-binding protein A6	64	EF-hand 2.|2.				axonogenesis|positive regulation of fibroblast proliferation|signal transduction	cytosol|extrinsic to internal side of plasma membrane|nuclear envelope|perinuclear region of cytoplasm|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding|tropomyosin binding			ovary(1)	1	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTCCTGGTCCTTGTTCCGGT	0.478													A	153507253	C	A	153507253	3	1	65	1	0	0	0	0	1	0	0	0	13782	680	24	5	84	5	S100A6	1	153507253	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	116679	153507253	95743368	79	46905											
DENND4B	9909	broad.mit.edu	37	chr1	153907390	153907390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattccggagcttggcccaGcgcagacgcccacctggtgt	12	15	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:153907390G>A	uc001fdd.1	-	18	3020	c.2619C>T	c.(2617-2619)CGC>CGT	p.R873R	uc001fdc.1_RNA	NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	873										ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTGGCCCAGCGCAGACGCC	0.502													A	153907390	G	A	153907390	2	1	65	1	0	0	0	0	0	0	0	1	4434	958	34	2		2	DENND4B	1	153907390	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	400137	153907390	95343231	80	46906											
CREB3L4	148327	broad.mit.edu	37	chr1	153946103	153946103	+	Frame_Shift_Del	DEL	T	T	-													tgcttcctcccagattcttcTtttttccctggctctcatca							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:153946103delT	uc001fdn.3	+	9	1171	c.905delT	c.(904-906)CTTfs	p.L302fs	CREB3L4_uc010pef.1_Frame_Shift_Del_p.L155fs|CREB3L4_uc001fdo.3_Frame_Shift_Del_p.L282fs|CREB3L4_uc001fdm.1_Frame_Shift_Del_p.L302fs|CREB3L4_uc001fdp.1_Frame_Shift_Del_p.L282fs|CREB3L4_uc001fdr.2_Frame_Shift_Del_p.L302fs|CREB3L4_uc001fdq.2_Frame_Shift_Del_p.L282fs	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like	302	Helical; Signal-anchor for type II membrane protein; (Potential).				response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGATTCTTCTTTTTTCCCTG	0.552													-	153946103	T	-	153946103	7	5	65	1	0	1	0	1	0	0	0	0	3859	1609	56	0	935	0	CREB3L4	1	153946103	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	38713	153946103	95304518	81	46907											
NUP210L	91181	broad.mit.edu	37	chr1	154125250	154125250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatactgctgaggcgtatcGgttgcgtagattcagcaatg	12	7	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:154125250G>A	uc001fdw.2	-	2	374	c.302C>T	c.(301-303)CCG>CTG	p.P101L	NUP210L_uc010peh.1_Missense_Mutation_p.P101L	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	101						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GAGGCGTATCGGTTGCGTAGA	0.408													A	154125250	G	A	154125250	3	1	65	1	0	0	0	0	1	0	0	0	10761	1116	39	1	5520	1	NUP210L	1	154125250	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	179147	154125250	95125371	82	46908											
PYGO2	90780	broad.mit.edu	37	chr1	154931946	154931946	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatcatctgcccactgggaGgactaaagttttgacccaga	10	11	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:154931946G>T	uc001fft.2	-	3	736	c.530C>A	c.(529-531)CCT>CAT	p.P177H		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	pygopus homolog 2	177	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			skin(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCACTGGGAGGACTAAAGTT	0.607													T	154931946	G	T	154931946	3	4	65	1	0	0	0	0	1	0	0	0	12864	1000	35	5	694	5	PYGO2	1	154931946	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	806696	154931946	94318675	83	46909											
SHC1	6464	broad.mit.edu	37	chr1	154942610	154942610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggcgggtccactcctcGcccccaagctggcccccttc	10	21	0	0	rs150853919	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:154942610G>A	uc001ffv.2	-	1	614	c.393C>T	c.(391-393)GGC>GGT	p.G131G	SHC1_uc001ffz.1_5'Flank|SHC1_uc001ffw.2_Silent_p.G131G|SHC1_uc001ffx.2_Silent_p.G21G|SHC1_uc001ffy.2_Silent_p.G21G	NM_183001	NP_892113	P29353	SHC1_HUMAN	SHC-transforming protein 1 isoform 1	131					activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(1)|skin(1)	2	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCCACTCCTCGCCCCCAAGCT	0.652													A	154942610	G	A	154942610	2	1	65	1	0	0	0	0	0	0	0	1	14270	1074	38	1		1	SHC1	1	154942610	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	10664	154942610	94308011	84	46910											
CLK2	1196	broad.mit.edu	37	chr1	155233104	155233104	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagggcttcacccaaggTcagccgcttagctggttcat	11	12	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:155233104T>C	uc001fjy.2	-	13	1695	c.1405A>G	c.(1405-1407)ACC>GCC	p.T469A	RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjr.2_5'Flank|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Missense_Mutation_p.T468A|CLK2_uc001fjx.2_Missense_Mutation_p.T241A|CLK2_uc009wqm.2_Missense_Mutation_p.T469A	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	469	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCACCCAAGGTCAGCCGCTTA	0.567								Other_conserved_DNA_damage_response_genes					C	155233104	T	C	155233104	3	2	65	1	0	0	0	0	1	0	0	0	3537	1667	58	3	98	3	CLK2	1	155233104	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	290494	155233104	94017517	85	46911											
ARHGEF2	9181	broad.mit.edu	37	chr1	155920171	155920171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcactgctgtcttgcagccGctcttcggggctccccagtt	11	15	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:155920171G>A	uc001fmt.2	-	21	2924	c.2806C>T	c.(2806-2808)CGG>TGG	p.R936W	ARHGEF2_uc001fmq.2_Missense_Mutation_p.R174W|ARHGEF2_uc001fmr.2_Missense_Mutation_p.R908W|ARHGEF2_uc001fms.2_Missense_Mutation_p.R935W|ARHGEF2_uc001fmu.2_Missense_Mutation_p.R980W	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	936					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTTGCAGCCGCTCTTCGGGG	0.627													A	155920171	G	A	155920171	3	1	65	1	0	0	0	0	1	0	0	0	903	1086	38	1	162	1	ARHGEF2	1	155920171	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	687067	155920171	93330450	86	46912											
SLC25A44	9673	broad.mit.edu	37	chr1	156169979	156169979	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taacacagtcaaatcactggTggctggtggctcagcctccc	10	13	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:156169979T>C	uc001fnp.2	+	2	663	c.341T>C	c.(340-342)GTG>GCG	p.V114A	SLC25A44_uc010phc.1_Intron|SLC25A44_uc009wrr.2_Missense_Mutation_p.V114A|SLC25A44_uc010phd.1_Intron|SLC25A44_uc010phe.1_Intron	NM_014655	NP_055470	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	114	Solcar 2.|Helical; Name=3; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			ovary(1)	1	Hepatocellular(266;0.158)					AAATCACTGGTGGCTGGTGGC	0.532													C	156169979	T	C	156169979	3	2	65	1	0	0	0	0	1	0	0	0	14509	1696	59	3	343	3	SLC25A44	1	156169979	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	249808	156169979	93080642	87	46913											
BCAN	63827	broad.mit.edu	37	chr1	156622678	156622678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggagtggccgtggtccccGcatcaggtaattctgcccaa	13	12	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:156622678G>A	uc001fpp.2	+	8	2272	c.1936G>A	c.(1936-1938)GCA>ACA	p.A646T	BCAN_uc001fpo.2_Missense_Mutation_p.A646T	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	646	EGF-like.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGTGGTCCCCGCATCAGGTAA	0.592													A	156622678	G	A	156622678	3	1	65	1	0	0	0	0	1	0	0	0	1345	1087	38	1	1962	1	BCAN	1	156622678	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	452699	156622678	92627943	88	46914											
HDGF	3068	broad.mit.edu	37	chr1	156714905	156714905	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttctccttggattcctcGtaagggaagaggtctttggg	12	8	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:156714905G>A	uc001fpy.3	-	3	520	c.198C>T	c.(196-198)TAC>TAT	p.Y66Y	HDGF_uc009wsd.2_Silent_p.Y34Y|HDGF_uc001fpz.3_Silent_p.Y59Y|HDGF_uc009wse.2_Silent_p.Y82Y|HDGF_uc010phr.1_Silent_p.Y82Y|HDGF_uc009wsf.2_Silent_p.Y34Y|HDGF_uc009wsg.2_Silent_p.Y66Y	NM_004494	NP_004485	P51858	HDGF_HUMAN	hepatoma-derived growth factor isoform a	66	PWWP.				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding	p.Y66D(1)		lung(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		TGGATTCCTCGTAAGGGAAGA	0.582													A	156714905	G	A	156714905	2	1	65	1	0	0	0	0	0	0	0	1	7018	1140	40	1		1	HDGF	1	156714905	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	92227	156714905	92535716	89	46915											
PEAR1	375033	broad.mit.edu	37	chr1	156883234	156883234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctgagcggccaggtgggGcccaagggcatgataaccac	14	13	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:156883234G>A	uc001fqj.1	+	20	2679	c.2563G>A	c.(2563-2565)GCC>ACC	p.A855T	PEAR1_uc001fqk.1_Missense_Mutation_p.A480T	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	855	Pro-rich.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCAGGTGGGGCCCAAGGGCA	0.667													A	156883234	G	A	156883234	3	1	65	1	0	0	0	0	1	0	0	0	11712	1203	42	2	2637	2	PEAR1	1	156883234	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	168329	156883234	92367387	90	46916											
OR10Z1	128368	broad.mit.edu	37	chr1	158577123	158577123	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaggaatagggctatacagAcagctctgaggaatgctttc	11	7	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:158577123A>G	uc010pio.1	+	1	895	c.895A>G	c.(895-897)ACA>GCA	p.T299A		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					GGCTATACAGACAGCTCTGAG	0.453													G	158577123	A	G	158577123	3	3	65	1	0	0	0	0	1	0	0	0	10923	275	10	3	897	3	OR10Z1	1	158577123	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	1693889	158577123	90673498	91	46917											
SPTA1	6708	broad.mit.edu	37	chr1	158651438	158651438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcaggtcccacaggtggCgtagctcctctatatgggcc	12	13	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:158651438C>T	uc001fst.1	-	4	609	c.410G>A	c.(409-411)CGC>CAC	p.R137H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	137	Spectrin 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CCACAGGTGGCGTAGCTCCTC	0.552													T	158651438	C	T	158651438	3	4	65	1	0	0	0	0	1	0	0	0	15115	768	27	1	7045	1	SPTA1	1	158651438	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	74315	158651438	90599183	92	46918											
CD48	962	broad.mit.edu	37	chr1	160650962	160650963	+	Frame_Shift_Ins	INS	-	-	C													caactccagttaccctgtgcINSccccctcagctcccagggat					rs112983858		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:160650961_160650962G>GC	uc001fwo.1	-	2	714_715	c.682_683C>GC	c.(682-684)gcafs	p.A228fs	CD48_uc001fwn.3_Intron	NM_001778	NP_001769	P09326	CD48_HUMAN	Homo sapiens CD48 molecule (CD48), transcript variant 1, mRNA.	0					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GTTACCCTGTGCCCCCCTCAGC	0.545													C	160650963	-	C	160650962	7	5	65	1	0	1	1	0	0	0	0	0	3020	754	26	0		0	CD48	1	160650962	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	1999524	160650962	88599659	93	46919											
ARHGAP30	257106	broad.mit.edu	37	chr1	161018315	161018315	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgttccttgctgacctcCcctgctcctccttcagttgc	6	19	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:161018315C>T	uc001fxl.2	-	12	2842	c.2496G>A	c.(2494-2496)GGG>GGA	p.G832G	USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Intron|ARHGAP30_uc001fxm.2_Silent_p.G678G|ARHGAP30_uc009wtx.2_Silent_p.G505G	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	832	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TGCTGACCTCCCCTGCTCCTC	0.547													T	161018315	C	T	161018315	2	4	65	1	0	0	0	0	0	0	0	1	879	610	22	4		4	ARHGAP30	1	161018315	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	367353	161018315	88232306	94	46920											
ADAMTS4	9507	broad.mit.edu	37	chr1	161166501	161166501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccccaggatcactagcCgagtcaccaccaagctgaca	8	16	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:161166501C>T	uc001fyt.3	-	2	1231	c.803G>A	c.(802-804)CGG>CAG	p.R268Q	ADAMTS4_uc001fyu.2_Missense_Mutation_p.R268Q|NDUFS2_uc001fyv.2_5'Flank	NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	268	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GATCACTAGCCGAGTCACCAC	0.647													T	161166501	C	T	161166501	3	4	65	1	0	0	0	0	1	0	0	0	268	652	23	1	1742	1	ADAMTS4	1	161166501	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	148186	161166501	88084120	95	46921											
C1orf111	284680	broad.mit.edu	37	chr1	162344047	162344047	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgaggaagtccagggtggGgtacatgcggcagcaggcca	17	9	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:162344047G>T	uc001gbx.2	-	3	641	c.577C>A	c.(577-579)CCC>ACC	p.P193T		NM_182581	NP_872387	Q5T0L3	CA111_HUMAN	hypothetical protein LOC284680	193										ovary(1)	1	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			TCCAGGGTGGGGTACATGCGG	0.587													T	162344047	G	T	162344047	3	4	65	1	0	0	0	0	1	0	0	0	1984	1232	43	5	212	5	C1orf111	1	162344047	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1177546	162344047	86906574	96	46922											
UAP1	6675	broad.mit.edu	37	chr1	162549290	162549290	+	Frame_Shift_Del	DEL	A	A	-													aagcacaagtactttggtttAaaaaaagagaatgtaatctt							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:162549289_162549289TA>T	uc001gce.4	+	3	886	c.557_557TA>T	c.(556-558)ttafs	p.L186fs		NM_003115	NP_003106	Q16222	UAP1_HUMAN	Homo sapiens UDP-N-acteylglucosamine pyrophosphorylase 1 (UAP1), mRNA.	186					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TACTTTGGTTTAAAAAAAGAG	0.363													-	162549290	A	-	162549290	7	5	65	1	0	1	0	1	0	0	0	0	16822	359	13	0	568	0	UAP1	1	162549290	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	205243	162549290	86701331	97	46923											
PBX1	5087	broad.mit.edu	37	chr1	164776856	164776856	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccatctcagcaacccttAccccagtgaggaagccaaag	7	15	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:164776856A>G	uc001gct.2	+	5	1037	c.779A>G	c.(778-780)TAC>TGC	p.Y260C	PBX1_uc010pku.1_Missense_Mutation_p.Y260C|PBX1_uc010pkv.1_Missense_Mutation_p.Y177C|PBX1_uc001gcs.2_Missense_Mutation_p.Y260C|PBX1_uc010pkw.1_Missense_Mutation_p.Y150C	NM_002585	NP_002576	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	260	Homeobox; TALE-type.				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	soft_tissue(3)|lung(1)|skin(1)	5						AGCAACCCTTACCCCAGTGAG	0.473			T	TCF3|EWSR1	pre B-ALL|myoepithelioma								G	164776856	A	G	164776856	3	3	65	1	0	0	0	0	1	0	0	0	11492	391	14	3	797	3	PBX1	1	164776856	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	2227566	164776856	84473765	98	46924											
BAT2L2	23215	broad.mit.edu	37	chr1	171494056	171494056	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcccaaatacctgcccaAccatcagtagcaaaagttcc	4	15	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:171494056A>G	uc010pmg.1	+	10	1412	c.1146A>G	c.(1144-1146)CAA>CAG	p.Q382Q	BAT2L2_uc001ghr.1_Silent_p.Q384Q	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	382							protein C-terminus binding				0						TACCTGCCCAACCATCAGTAG	0.388													G	171494056	A	G	171494056	2	3	65	1	0	0	0	0	0	0	0	1	1321	40	2	3		3	BAT2L2	1	171494056	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	6717200	171494056	77756565	99	46925											
RASAL2	9462	broad.mit.edu	37	chr1	178063757	178063757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcccagtcagtggagccGtcgccggtggcatgttggat	15	10	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:178063757G>A	uc001glq.2	+	1	894	c.130G>A	c.(130-132)GTC>ATC	p.V44I	RASAL2_uc009wxb.2_Missense_Mutation_p.V44I|LOC100302401_uc001gln.1_5'Flank|LOC100302401_uc001glo.1_5'Flank|RASAL2_uc009wxa.2_RNA	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 2	Error:Variant_position_missing_in_Q9UJF2_after_alignment					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						CAGTGGAGCCGTCGCCGGTGG	0.672													A	178063757	G	A	178063757	3	1	65	1	0	0	0	0	1	0	0	0	13064	1145	40	1	132	1	RASAL2	1	178063757	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	6569701	178063757	71186864	100	46926											
ZNF648	127665	broad.mit.edu	37	chr1	182025680	182025680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttggtgccgcttcagggtcGaagagcgggcaaaggcctgg	18	9	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:182025680G>A	uc001goz.2	-	2	1674	c.1466C>T	c.(1465-1467)TCG>TTG	p.S489L		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	489	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTTCAGGGTCGAAGAGCGGGC	0.667													A	182025680	G	A	182025680	3	1	65	1	0	0	0	0	1	0	0	0	18060	1059	37	1	244	1	ZNF648	1	182025680	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	3961923	182025680	67224941	101	46927											
C1orf14	81626	broad.mit.edu	37	chr1	182869270	182869270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgagagcttcttctgctaCgataaaaaactgttccattg	8	8	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:182869270C>T	uc001gpu.2	-	10	2095	c.1810G>A	c.(1810-1812)GTA>ATA	p.V604I	C1orf14_uc001gpv.2_Missense_Mutation_p.V485I|C1orf14_uc010pnz.1_Missense_Mutation_p.V462I|C1orf14_uc001gpw.2_Missense_Mutation_p.V324I	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	676											0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)		TCTTCTGCTACGATAAAAAAC	0.343													T	182869270	C	T	182869270	3	4	65	1	0	0	0	0	1	0	0	0	2000	536	19	1	155	1	C1orf14	1	182869270	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	843590	182869270	66381351	102	46928											
HMCN1	83872	broad.mit.edu	37	chr1	186086701	186086701	+	Frame_Shift_Del	DEL	A	A	-													ttccctcaattcactggaccAaaaatggtataagactgctt					rs76430089	by1000genomes	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:186086700_186086700CA>C	uc001grq.1	+	76	12022	c.11793_11793CA>C	c.(11791-11793)accfs	p.T3931fs	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3931	Ig-like C2-type 38.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTCACTGGACCAAAAATGGTA	0.433													-	186086701	A	-	186086701	7	5	65	1	0	1	0	1	0	0	0	0	7220	131	5	0	12100	0	HMCN1	1	186086701	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	3217431	186086701	63163920	103	46929											
TPR	7175	broad.mit.edu	37	chr1	186328998	186328998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacgttcatattcctcaCgctggcgtttcaaaattggt	9	10	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:186328998C>T	uc001grv.2	-	12	1619	c.1322G>A	c.(1321-1323)CGT>CAT	p.R441H	TPR_uc010pop.1_Missense_Mutation_p.R517H	NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	441	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ATATTCCTCACGCTGGCGTTT	0.383			T	NTRK1	papillary thyroid								T	186328998	C	T	186328998	3	4	65	1	0	0	0	0	1	0	0	0	16413	536	19	1	5929	1	TPR	1	186328998	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	242297	186328998	62921623	104	46930											
FAM5C	339479	broad.mit.edu	37	chr1	190068096	190068096	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcggttgtctggtgcgcaTgtcaggcaggcagaggcgtc	18	9	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:190068096T>C	uc001gse.1	-	8	1585	c.1353A>G	c.(1351-1353)ACA>ACG	p.T451T	FAM5C_uc010pot.1_Silent_p.T349T	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	451						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					CTGGTGCGCATGTCAGGCAGG	0.632													C	190068096	T	C	190068096	2	2	65	1	0	0	0	0	0	0	0	1	5594	1451	51	3		3	FAM5C	1	190068096	Silent	SNP	T	TCGA-BR-8081-01A-11D-2340-08	3739098	190068096	59182525	105	46931											
CFHR3	10878	broad.mit.edu	37	chr1	196749098	196749098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctactcccagatgcatccGtgtcagtaagtacaccgctc	7	15	1	1	rs144960443		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:196749098G>A	uc001gtl.2	+	3	512	c.425G>A	c.(424-426)CGT>CAT	p.R142H	CFHR3_uc001gtk.2_Missense_Mutation_p.R142H|CFHR3_uc010poy.1_Missense_Mutation_p.R142H|CFHR1_uc001gtm.2_Intron	NM_021023	NP_066303	Q02985	FHR3_HUMAN	complement factor H-related 3 precursor	142	Sushi 2.					extracellular space					0						AGATGCATCCGTGTCAGTAAG	0.483													A	196749098	G	A	196749098	3	1	65	1	0	0	0	0	1	0	0	0	3286	1145	40	1	435	1	CFHR3	1	196749098	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	6681002	196749098	52501523	106	46932											
ASPM	259266	broad.mit.edu	37	chr1	197093329	197093329	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaggaaccactatcccTtttgccttttttcttattaa	3	10	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:197093329T>C	uc001gtu.2	-	13	3558	c.3301A>G	c.(3301-3303)AGG>GGG	p.R1101G	ASPM_uc001gtv.2_Missense_Mutation_p.R1101G|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1101					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						CCACTATCCCTTTTGCCTTTT	0.303													C	197093329	T	C	197093329	3	2	65	1	0	0	0	0	1	0	0	0	1056	1608	56	3	7196	3	ASPM	1	197093329	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	344231	197093329	52157292	107	46933											
ASPM	259266	broad.mit.edu	37	chr1	197108943	197108943	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaactggactgtgccacagcGataatgggttttgtcctttt	10	8	0	0	rs151087446		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:197108943G>A	uc001gtu.2	-	4	2237	c.1980C>T	c.(1978-1980)ATC>ATT	p.I660I	ASPM_uc001gtv.2_Silent_p.I660I|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	660					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						GTGCCACAGCGATAATGGGTT	0.294													A	197108943	G	A	197108943	2	1	65	1	0	0	0	0	0	0	0	1	1056	1048	37	1		1	ASPM	1	197108943	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	15614	197108943	52141678	108	46934											
KIF21B	23046	broad.mit.edu	37	chr1	200944791	200944791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtcacacactcgcccagctCgaacatctgtgggaggaggg	13	13	2	0	rs146030020	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:200944791C>T	uc001gvs.1	-	33	4767	c.4450G>A	c.(4450-4452)GAG>AAG	p.E1484K	KIF21B_uc001gvr.1_Missense_Mutation_p.E1471K|KIF21B_uc009wzl.1_Missense_Mutation_p.E1484K|KIF21B_uc010ppn.1_Missense_Mutation_p.E1471K	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	1484	WD 4.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						TCGCCCAGCTCGAACATCTGT	0.632													T	200944791	C	T	200944791	3	4	65	1	0	0	0	0	1	0	0	0	8289	893	31	1	475	1	KIF21B	1	200944791	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	3835848	200944791	48305830	109	46935											
IPO9	55705	broad.mit.edu	37	chr1	201840319	201840319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgttcgctcatctggtgCacactcagctagaacctctc	9	13	4	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:201840319C>T	uc001gwz.2	+	19	2490	c.2440C>T	c.(2440-2442)CAC>TAC	p.H814Y		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	814					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						TCATCTGGTGCACACTCAGCT	0.493													T	201840319	C	T	201840319	3	4	65	1	0	0	0	0	1	0	0	0	7799	710	25	2	2514	2	IPO9	1	201840319	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	895528	201840319	47410302	110	46936											
SYT2	127833	broad.mit.edu	37	chr1	202568475	202568475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaggtggatcttcacgtaCgggtctgcggagggagaatc	15	8	4	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:202568475C>T	uc001gye.2	-	8	1117	c.924G>A	c.(922-924)CCG>CCA	p.P308P	SYT2_uc010pqb.1_Silent_p.P308P|SYT2_uc009xaf.2_Silent_p.P138P	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	synaptotagmin II	308	Phospholipid binding (By similarity).|C2 2.|Cytoplasmic (Potential).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TCTTCACGTACGGGTCTGCGG	0.552													T	202568475	C	T	202568475	2	4	65	1	0	0	0	0	0	0	0	1	15471	523	19	1		1	SYT2	1	202568475	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	728156	202568475	46682146	111	46937											
PIK3C2B	5287	broad.mit.edu	37	chr1	204403573	204403573	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagatcacttaccgcttgAtgttgccaaacatctgggca	10	10	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:204403573A>G	uc001haw.2	-	25	4159	c.3680T>C	c.(3679-3681)ATC>ACC	p.I1227T	PIK3C2B_uc010pqv.1_Missense_Mutation_p.I1199T	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	1227	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TTACCGCTTGATGTTGCCAAA	0.512													G	204403573	A	G	204403573	3	3	65	1	0	0	0	0	1	0	0	0	11910	333	12	3	1264	3	PIK3C2B	1	204403573	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	1835098	204403573	44847048	112	46938											
YOD1	55432	broad.mit.edu	37	chr1	207222856	207222856	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgctacaatttgtgctaTgaggcgtctcatctcagggg	12	9	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:207222856T>C	uc001hfe.1	-	2	603	c.556A>G	c.(556-558)ATA>GTA	p.I186V	PFKFB2_uc010psc.1_5'UTR|YOD1_uc001hff.1_Missense_Mutation_p.I142V	NM_018566	NP_061036	Q5VVQ6	OTU1_HUMAN	YOD1 OTU deubiquinating enzyme 1 homolog	186	OTU.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1	Prostate(682;0.19)					ATTTGTGCTATGAGGCGTCTC	0.468													C	207222856	T	C	207222856	3	2	65	1	0	0	0	0	1	0	0	0	17485	1464	51	3	494	3	YOD1	1	207222856	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	2819283	207222856	42027765	113	46939											
CR2	1380	broad.mit.edu	37	chr1	207646356	207646356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttgctgtccagtgctcaCatgtccatattgcaaatgga	8	11	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:207646356C>T	uc001hfw.2	+	10	1904	c.1810C>T	c.(1810-1812)CAT>TAT	p.H604Y	CR2_uc001hfv.2_Missense_Mutation_p.H604Y|CR2_uc009xch.2_Missense_Mutation_p.H604Y|CR2_uc009xci.1_Missense_Mutation_p.H89Y	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	604	Sushi 10.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						CCAGTGCTCACATGTCCATAT	0.448													T	207646356	C	T	207646356	3	4	65	1	0	0	0	0	1	0	0	0	3842	478	17	4	1848	4	CR2	1	207646356	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	423500	207646356	41604265	114	46940											
CR1	1378	broad.mit.edu	37	chr1	207748941	207748941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccattttttgcctttaggCaccgactcattggtcactca	6	12	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:207748941C>T	uc001hfy.2	+	20	3243	c.3103C>T	c.(3103-3105)CAC>TAC	p.H1035Y	CR1_uc009xcl.1_Missense_Mutation_p.H585Y|CR1_uc001hfx.2_Missense_Mutation_p.H1485Y	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1035	Extracellular (Potential).|Sushi 16.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TGCCTTTAGGCACCGACTCAT	0.423													T	207748941	C	T	207748941	3	4	65	1	0	0	0	0	1	0	0	0	3840	724	25	2	4563	2	CR1	1	207748941	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	102585	207748941	41501680	115	46941											
CD46	4179	broad.mit.edu	37	chr1	207940426	207940426	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatttggaaaaaaattttacTacaaagcaacagttatgttt	6	4	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:207940426T>C	uc001hgc.2	+	6	898	c.742T>C	c.(742-744)TAC>CAC	p.Y248H	CD46_uc001hgd.2_Missense_Mutation_p.Y248H|CD46_uc001hge.2_Missense_Mutation_p.Y248H|CD46_uc001hgf.2_Missense_Mutation_p.Y248H|CD46_uc001hgg.2_Missense_Mutation_p.Y248H|CD46_uc001hgh.2_Missense_Mutation_p.Y248H|CD46_uc001hgi.2_Missense_Mutation_p.Y248H|CD46_uc001hgj.2_Missense_Mutation_p.Y248H|CD46_uc001hgk.2_Missense_Mutation_p.Y248H|CD46_uc001hgl.2_Missense_Mutation_p.Y248H|CD46_uc001hgm.2_Missense_Mutation_p.Y248H|CD46_uc001hgn.2_Missense_Mutation_p.Y248H|CD46_uc001hgo.2_Missense_Mutation_p.Y248H|CD46_uc001hgp.2_Missense_Mutation_p.Y248H	NM_002389	NP_002380	P15529	MCP_HUMAN	CD46 antigen, complement regulatory protein	248	Extracellular (Potential).|Sushi 4.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			large_intestine(2)|lung(1)|central_nervous_system(1)	4						AAAATTTTACTACAAAGCAAC	0.388													C	207940426	T	C	207940426	3	2	65	1	0	0	0	0	1	0	0	0	3018	1522	53	3	764	3	CD46	1	207940426	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	191485	207940426	41310195	116	46942											
PLXNA2	5362	broad.mit.edu	37	chr1	208219401	208219401	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtccaggccagggcggTagtccgtggtcagagagggt	18	9	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:208219401T>C	uc001hgz.2	-	18	4075	c.3317A>G	c.(3316-3318)TAC>TGC	p.Y1106C		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1106	Extracellular (Potential).|IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCCAGGGCGGTAGTCCGTGGT	0.507													C	208219401	T	C	208219401	3	2	65	1	0	0	0	0	1	0	0	0	12120	1638	57	3	2427	3	PLXNA2	1	208219401	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	278975	208219401	41031220	117	46943											
RPS6KC1	26750	broad.mit.edu	37	chr1	213403856	213403856	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaggttttacttgtaatggAcacaaggacagaacagactt	10	6	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:213403856A>G	uc010ptr.1	+	9	1220	c.1061A>G	c.(1060-1062)GAC>GGC	p.D354G	RPS6KC1_uc001hkd.2_Missense_Mutation_p.D342G|RPS6KC1_uc010pts.1_Missense_Mutation_p.D142G|RPS6KC1_uc010ptt.1_Missense_Mutation_p.D142G|RPS6KC1_uc010ptu.1_Missense_Mutation_p.D173G|RPS6KC1_uc010ptv.1_Intron|RPS6KC1_uc001hke.2_Missense_Mutation_p.D173G	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	354	Protein kinase 1.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CTTGTAATGGACACAAGGACA	0.199													G	213403856	A	G	213403856	3	3	65	1	0	0	0	0	1	0	0	0	13658	275	10	3	1095	3	RPS6KC1	1	213403856	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	5184455	213403856	35846765	118	46944											
USH2A	7399	broad.mit.edu	37	chr1	216419954	216419954	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acactgattacaccttcttcCttgacgattaggcacacaca	5	13	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:216419954C>A	uc001hku.1	-	13	3169	c.2782G>T	c.(2782-2784)GGA>TGA	p.G928*	USH2A_uc001hkv.2_Nonsense_Mutation_p.G928*	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	928	Laminin EGF-like 8.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACCTTCTTCCTTGACGATTA	0.438										HNSCC(13;0.011)			A	216419954	C	A	216419954	4	1	65	1	0	0	0	0	0	1	0	0	17033	690	24	5	13080	5	USH2A	1	216419954	Nonsense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	3016098	216419954	32830667	119	46945											
SPATA17	128153	broad.mit.edu	37	chr1	217955552	217955552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccgaagtattagaacaaCgctacaggcctttggagcca	9	11	1	1	rs145142638	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:217955552C>T	uc001hlh.1	+	8	786	c.760C>T	c.(760-762)CGC>TGC	p.R254C	SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.R254C	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	254						cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ATTAGAACAACGCTACAGGCC	0.458													T	217955552	C	T	217955552	3	4	65	1	0	0	0	0	1	0	0	0	15001	536	19	1	790	1	SPATA17	1	217955552	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1535598	217955552	31295069	120	46946											
EPRS	2058	broad.mit.edu	37	chr1	220191853	220191853	+	Splice_Site	DEL	A	A	-													gactgaacgtgaggagccctAaaaaacaataacaacatgat							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:220191852_220191852TA>T	uc001hly.1	-	12	1705	c.1435_splice	c.e12-1	p.G479_splice	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Splice_Site_p.G230_splice|EPRS_uc001hlz.1_Splice_Site_p.G479_splice|EPRS_uc009xdt.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	479	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TGAGGAGCCCTAAAAAACAAT	0.348													-	220191853	A	-	220191853	8	5	65	1	0	1	0	1	0	0	1	0	5191	377	13	0		0	EPRS	1	220191853	Splice_Site	DEL	A	TCGA-BR-8081-01A-11D-2340-08	2236301	220191853	29058768	121	46947											
FBXO28	23219	broad.mit.edu	37	chr1	224301979	224301980	+	Frame_Shift_Ins	INS	-	-	C													ggggtcccaggcgctcccagINScccccgcgctggctccggac							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:224301979_224301980insC	uc001hoh.2	+	1	189_190	c.148_149insC	c.(148-150)GCCfs	p.A50fs	FBXO28_uc009xef.2_Frame_Shift_Ins_p.A50fs|FBXO28_uc010pvc.1_5'UTR	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	F-box protein 28 isoform a	50										ovary(2)|kidney(2)|lung(1)	5	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		GGCGCTCCCAGCCCCCGCGCTG	0.668													C	224301980	-	C	224301979	7	5	65	1	0	1	1	0	0	0	0	0	5738	971	34	0	150	0	FBXO28	1	224301979	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	4110126	224301979	24948642	122	46948											
WDR26	80232	broad.mit.edu	37	chr1	224607320	224607320	+	Splice_Site	DEL	A	A	-													tggctacacatcagatacctAaaaatacaacagagaaagca							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:224607319_224607319TA>T	uc001hop.4	-	5	959	c.765_splice	c.e5-1	p.G255_splice	WDR26_uc001hoq.4_Splice_Site_p.G239_splice|WDR26_uc021pjp.1_Splice_Site|WDR26_uc009xei.2_Splice_Site_p.G239_splice|WDR26_uc021pjs.1_5'Flank	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	Homo sapiens WD repeat domain 26 (WDR26), transcript variant 1, mRNA.	255						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		ATCAGATACCTAAAAATACAA	0.378													-	224607320	A	-	224607320	8	5	65	1	0	1	0	1	0	0	1	0	17280	377	13	0		0	WDR26	1	224607320	Splice_Site	DEL	A	TCGA-BR-8081-01A-11D-2340-08	305341	224607320	24643301	123	46949											
PARP1	142	broad.mit.edu	37	chr1	226576414	226576414	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttttttagatttcttcttCgccacttcatccactccatc	2	14	4	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:226576414C>T	uc001hqd.3	-	5	831	c.660G>A	c.(658-660)GCG>GCA	p.A220A		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	220					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		ATTTCTTCTTCGCCACTTCAT	0.433								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					T	226576414	C	T	226576414	2	4	65	1	0	0	0	0	0	0	0	1	11454	871	31	1		1	PARP1	1	226576414	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1969094	226576414	22674207	124	46950											
WNT3A	89780	broad.mit.edu	37	chr1	228210473	228210473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcttctgcaggaactaCgtggagatcatgcccagcgt	11	13	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:228210473C>T	uc001hrq.1	+	2	255	c.177C>T	c.(175-177)TAC>TAT	p.Y59Y	WNT3A_uc001hrp.1_Silent_p.Y59Y	NM_033131	NP_149122	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family,	59					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	p.Y59Y(1)		ovary(1)	1		Prostate(94;0.0405)				GCAGGAACTACGTGGAGATCA	0.652													T	228210473	C	T	228210473	2	4	65	1	0	0	0	0	0	0	0	1	17386	547	19	1		1	WNT3A	1	228210473	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1634059	228210473	21040148	125	46951											
OBSCN	84033	broad.mit.edu	37	chr1	228495098	228495098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggcgtggagctgcatgCgggccccaagtacgagatgc	18	10	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:228495098C>T	uc009xez.1	+	46	12376	c.12332C>T	c.(12331-12333)GCG>GTG	p.A4111V	OBSCN_uc001hsn.2_Missense_Mutation_p.A4111V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4111	Ig-like 42.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GAGCTGCATGCGGGCCCCAAG	0.652													T	228495098	C	T	228495098	3	4	65	1	0	0	0	0	1	0	0	0	10812	768	27	1	12510	1	OBSCN	1	228495098	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	284625	228495098	20755523	126	46952											
HIST3H2BB	128312	broad.mit.edu	37	chr1	228646120	228646120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgtcccgcgaagtgcagaCggccgttcgcctgctgctgc	13	16	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:228646120C>T	uc001hsz.2	+	1	313	c.290C>T	c.(289-291)ACG>ATG	p.T97M	HIST3H2A_uc001hsy.2_5'Flank	NM_175055	NP_778225	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	97					nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		Prostate(94;0.183)				GAAGTGCAGACGGCCGTTCGC	0.637													T	228646120	C	T	228646120	3	4	65	1	0	0	0	0	1	0	0	0	7183	536	19	1	292	1	HIST3H2BB	1	228646120	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	151022	228646120	20604501	127	46953											
C1orf96	126731	broad.mit.edu	37	chr1	229462512	229462514	+	In_Frame_Del	DEL	GTT	GTT	-													acaggagcggacgcacagacGttgtgagtcttctggcttcc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:229462511_229462513CGTT>C	uc001htl.4	-	2	686_688	c.608_610AACG>G	c.(607-612)aacgtc>aGtc	p.203_204NV>S	C1orf96_uc009xfc.3_Non-coding_Transcript	NM_145257	NP_660300	Q6IQ19	CA096_HUMAN	Homo sapiens chromosome 1 open reading frame 96 (C1orf96), mRNA.	203						centrosome				breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				GACGCACAGACGTTGTGAGTCTT	0.532													-	229462514	GTT	-	229462512	7	5	65	1	0	1	0	1	0	0	0	0	2073	1136	40	0	211	0	C1orf96	1	229462512	In_Frame_Del	DEL	GTT	TCGA-BR-8081-01A-11D-2340-08	816392	229462512	19788109	128	46954											
ACTA1	58	broad.mit.edu	37	chr1	229567918	229567918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctccttgatgtcgcgcaCgatctcgcgctcagctgcgg	11	15	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:229567918C>T	uc001htm.2	-	5	736	c.631G>A	c.(631-633)GTG>ATG	p.V211M		NM_001100	NP_001091	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	211					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton				0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	ATGTCGCGCACGATCTCGCGC	0.483													T	229567918	C	T	229567918	3	4	65	1	0	0	0	0	1	0	0	0	191	536	19	1	514	1	ACTA1	1	229567918	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	105406	229567918	19682703	129	46955											
RYR2	6262	broad.mit.edu	37	chr1	237659953	237659953	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggctgggcttccactgaaGgatattctccctaccctgga	11	12	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:237659953G>T	uc001hyl.1	+	20	2224	c.2104G>T	c.(2104-2106)GGA>TGA	p.G702*		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	702	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCCACTGAAGGATATTCTCC	0.507													T	237659953	G	T	237659953	4	4	65	1	0	0	0	0	0	1	0	0	13769	1001	35	5	2182	5	RYR2	1	237659953	Nonsense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	8092035	237659953	11590668	130	46956											
RYR2	6262	broad.mit.edu	37	chr1	237806708	237806708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgggagatttggtgggcGttatcagcatcgcttttcag	13	9	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:237806708G>A	uc001hyl.1	+	48	7423	c.7303G>A	c.(7303-7305)GTT>ATT	p.V2435I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2435	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTGGTGGGCGTTATCAGCAT	0.433													A	237806708	G	A	237806708	3	1	65	1	0	0	0	0	1	0	0	0	13769	1145	40	1	7493	1	RYR2	1	237806708	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	146755	237806708	11443913	131	46957											
RYR2	6262	broad.mit.edu	37	chr1	237947057	237947057	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacgtggagatgattctcaaAttttttgacatgttcttaaa	7	5	2	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:237947057A>T	uc001hyl.1	+	90	12165	c.12045A>T	c.(12043-12045)AAA>AAT	p.K4015N	RYR2_uc010pya.1_Missense_Mutation_p.K430N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4015					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGATTCTCAAATTTTTTGACA	0.403													T	237947057	A	T	237947057	3	4	65	1	0	0	0	0	1	0	0	0	13769	98	4	5	12403	5	RYR2	1	237947057	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	140349	237947057	11303564	132	46958											
PLD5	200150	broad.mit.edu	37	chr1	242277235	242277235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaggtagtccatgacagCgatgtacacatactgcttgg	12	9	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:242277235C>T	uc001hzn.1	-	7	1154	c.1027G>A	c.(1027-1029)GCT>ACT	p.A343T	PLD5_uc001hzl.3_Missense_Mutation_p.A281T|PLD5_uc001hzm.3_Missense_Mutation_p.A133T|PLD5_uc001hzo.1_Missense_Mutation_p.A251T			Q8N7P1	PLD5_HUMAN	RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;	343						integral to membrane	catalytic activity			ovary(6)	6	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TCCATGACAGCGATGTACACA	0.453													T	242277235	C	T	242277235	3	4	65	1	0	0	0	0	1	0	0	0	12049	768	27	1	599	1	PLD5	1	242277235	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	4330178	242277235	6973386	133	46959											
SCCPDH	51097	broad.mit.edu	37	chr1	246903516	246903516	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtatcatgagaaagctgcaGacaaaggggtttatatcatt	10	5	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:246903516G>T	uc001ibr.2	+	4	774	c.427G>T	c.(427-429)GAC>TAC	p.D143Y		NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	143						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			ovary(1)	1	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		GAAAGCTGCAGACAAAGGGGT	0.348													T	246903516	G	T	246903516	3	4	65	1	0	0	0	0	1	0	0	0	13885	942	33	5	441	5	SCCPDH	1	246903516	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	4626281	246903516	2347105	134	46960											
OR2B11	127623	broad.mit.edu	37	chr1	247614943	247614943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggccaggacgatgcactcCgtgcatcccagccagtggaa	13	14	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:247614943C>T	uc010pyx.1	-	1	342	c.342G>A	c.(340-342)ACG>ACA	p.T114T		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B,	114	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)	1	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CGATGCACTCCGTGCATCCCA	0.597													T	247614943	C	T	247614943	2	4	65	1	0	0	0	0	0	0	0	1	10988	639	23	1		1	OR2B11	1	247614943	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	711427	247614943	1635678	135	46961											
OR2G3	81469	broad.mit.edu	37	chr1	247769083	247769083	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtacttttttctcagcaacCtctctttactggacatctgc	5	12	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:247769083C>A	uc010pyz.1	+	1	196	c.196C>A	c.(196-198)CTC>ATC	p.L66I		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	66	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCTCAGCAACCTCTCTTTACT	0.448													A	247769083	C	A	247769083	3	1	65	1	0	0	0	0	1	0	0	0	10999	681	24	5	198	5	OR2G3	1	247769083	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	154140	247769083	1481538	136	46962											
OR11L1	391189	broad.mit.edu	37	chr1	248004808	248004808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcatgaggaaggggtagcGgagtgggctgcagatggcca	19	6	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:248004808G>A	uc001idn.1	-	1	391	c.391C>T	c.(391-393)CGC>TGC	p.R131C		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGGGGTAGCGGAGTGGGCTG	0.587													A	248004808	G	A	248004808	3	1	65	1	0	0	0	0	1	0	0	0	10930	1116	39	1	581	1	OR11L1	1	248004808	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	235725	248004808	1245813	137	46963											
OR2L8	391190	broad.mit.edu	37	chr1	248112563	248112563	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccactatctcatccgcaTgagcaaaagagtgtgtgtgc	9	11	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:248112563T>C	uc001idt.1	+	1	404	c.404T>C	c.(403-405)ATG>ACG	p.M135T	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTCATCCGCATGAGCAAAAGA	0.433													C	248112563	T	C	248112563	3	2	65	1	0	0	0	0	1	0	0	0	11009	1464	51	3	406	3	OR2L8	1	248112563	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	107755	248112563	1138058	138	46964											
OR2T12	127064	broad.mit.edu	37	chr1	248458349	248458349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgcaccaacacgggggcctCgcagaagaagtgatcgatct	12	12	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:248458349C>T	uc010pzj.1	-	1	532	c.532G>A	c.(532-534)GAG>AAG	p.E178K		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	178	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ACGGGGGCCTCGCAGAAGAAG	0.567													T	248458349	C	T	248458349	3	4	65	1	0	0	0	0	1	0	0	0	11019	893	31	1	433	1	OR2T12	1	248458349	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	345786	248458349	792272	139	46965											
OR2M7	391196	broad.mit.edu	37	chr1	248487386	248487386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaggagaaggaaaatgtcGctacagcatcaatgattcca	10	7	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:248487386G>A	uc010pzk.1	-	1	485	c.485C>T	c.(484-486)GCG>GTG	p.A162V		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	162	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGAAAATGTCGCTACAGCATC	0.453													A	248487386	G	A	248487386	3	1	65	1	0	0	0	0	1	0	0	0	11014	1087	38	1	456	1	OR2M7	1	248487386	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	29037	248487386	763235	140	46966											
OR14I1	401994	broad.mit.edu	37	chr1	248844882	248844882	+	Frame_Shift_Del	DEL	G	G	-													gagcatgatgacaatgagctGgggggagcaggtggagaagg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:248844881_248844881TG>T	uc001ieu.1	-	0	725	c.725_725CA>A	c.(724-726)cagfs	p.Q242fs		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GACAATGAGCTGGGGGGAGCA	0.463													-	248844882	G	-	248844882	7	5	65	1	0	1	0	1	0	0	0	0	10947	1357	47	0	215	0	OR14I1	1	248844882	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	357496	248844882	405739	141	46967											
ZNF692	55657	broad.mit.edu	37	chr1	249151606	249151606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcttggccgccaggccccCgaagcccgggcaccaggctg	13	18	1	0	rs143513211		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:249151606C>T	uc001ifc.1	-	4	469	c.302G>A	c.(301-303)CGG>CAG	p.R101Q	ZNF692_uc001iez.1_5'Flank|ZNF692_uc001ifa.1_5'UTR|ZNF692_uc001ifb.1_5'UTR|ZNF692_uc001ifd.1_Missense_Mutation_p.R101Q|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Missense_Mutation_p.R101Q|ZNF692_uc010pzr.1_Missense_Mutation_p.R106Q	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	zinc finger protein 692 isoform 2	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCCAGGCCCCCGAAGCCCGGG	0.632													T	249151606	C	T	249151606	3	4	65	1	0	0	0	0	1	0	0	0	18094	652	23	1	1293	1	ZNF692	1	249151606	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	306724	249151606	99015	142	46968											
PXDN	7837	broad.mit.edu	37	chr2	1652415	1652415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgtggtactctcccagcGtcctcatgcccacctccccc	7	21	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:1652415G>A	uc002qxa.2	-	17	3201	c.3137C>T	c.(3136-3138)ACG>ATG	p.T1046M		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1046					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTCTCCCAGCGTCCTCATGCC	0.602													A	1652415	G	A	1652415	3	1	65	1	0	0	0	0	1	0	0	0	12847	1145	40	1	1330	1	PXDN	2	1652415	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08		1652415	241546958	143	46969											
GRHL1	29841	broad.mit.edu	37	chr2	10136026	10136026	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctctgtcttgaaaagggggCcgtacggcacagaagatgac	14	9	2	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:10136026C>A	uc002raa.2	+	13	1690	c.1519C>A	c.(1519-1521)CCG>ACG	p.P507T	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.P318T|GRHL1_uc010yjb.1_Missense_Mutation_p.P356T	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	507					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GAAAAGGGGGCCGTACGGCAC	0.473													A	10136026	C	A	10136026	3	1	65	1	0	0	0	0	1	0	0	0	6763	739	26	5	1569	5	GRHL1	2	10136026	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	8483611	10136026	233063347	144	46970											
GREB1	9687	broad.mit.edu	37	chr2	11780503	11780503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaggacgagtggcagttcCggctgcgcgatgagttccag	16	10	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:11780503C>T	uc002rbk.1	+	33	6073	c.5773C>T	c.(5773-5775)CGG>TGG	p.R1925W	GREB1_uc002rbp.1_Missense_Mutation_p.R923W	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1925						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GTGGCAGTTCCGGCTGCGCGA	0.617													T	11780503	C	T	11780503	3	4	65	1	0	0	0	0	1	0	0	0	6760	643	23	1	6007	1	GREB1	2	11780503	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1644477	11780503	231418870	145	46971											
MFSD2B	388931	broad.mit.edu	37	chr2	24247090	24247090	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgcatcctcatggtcggctCcactccaaagacacccagtc	7	17	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:24247090C>A	uc002reo.1	+	13	1453	c.1439C>A	c.(1438-1440)TCC>TAC	p.S480Y		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing	480					transport	integral to membrane				ovary(2)	2						ATGGTCGGCTCCACTCCAAAG	0.647													A	24247090	C	A	24247090	3	1	65	1	0	0	0	0	1	0	0	0	9531	855	30	5	1489	5	MFSD2B	2	24247090	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	12466587	24247090	218952283	146	46972											
ITSN2	50618	broad.mit.edu	37	chr2	24524945	24524945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcttctgcttttagctgtCcatcaccatcaacgtcagcc	5	15	5	0	rs146161429	by1000genomes	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:24524945C>T	uc002rfe.2	-	10	1142	c.884G>A	c.(883-885)GGA>GAA	p.G295E	ITSN2_uc002rff.2_Missense_Mutation_p.G295E|ITSN2_uc002rfg.2_Missense_Mutation_p.G295E|ITSN2_uc010eyd.2_Missense_Mutation_p.G320E	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	295	EH 2.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTAGCTGTCCATCACCATC	0.378													T	24524945	C	T	24524945	3	4	65	1	0	0	0	0	1	0	0	0	7927	855	30	4	4384	4	ITSN2	2	24524945	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	277855	24524945	218674428	147	46973											
ADCY3	109	broad.mit.edu	37	chr2	25042948	25042948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctcacaaagcggaagccGtactctcggaggatgacttg	12	12	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:25042948G>A	uc002rfs.3	-	21	3487	c.3288C>T	c.(3286-3288)TAC>TAT	p.Y1096Y	ADCY3_uc002rfr.3_Silent_p.Y683Y|ADCY3_uc010ykm.1_Silent_p.Y1097Y	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	1096	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGCGGAAGCCGTACTCTCGGA	0.612													A	25042948	G	A	25042948	2	1	65	1	0	0	0	0	0	0	0	1	295	1140	40	1		1	ADCY3	2	25042948	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	518003	25042948	218156425	148	46974											
ADCY3	109	broad.mit.edu	37	chr2	25061489	25061489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctctgggagatgtgcacgCgcctggattgcagagagaga	16	8	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:25061489C>T	uc002rfs.3	-	7	1557	c.1358G>A	c.(1357-1359)CGC>CAC	p.R453H	ADCY3_uc002rfr.3_Missense_Mutation_p.R86H|ADCY3_uc010ykm.1_Missense_Mutation_p.R453H	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	453	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GATGTGCACGCGCCTGGATTG	0.642													T	25061489	C	T	25061489	3	4	65	1	0	0	0	0	1	0	0	0	295	768	27	1	2136	1	ADCY3	2	25061489	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	18541	25061489	218137884	149	46975											
DNAJC27	51277	broad.mit.edu	37	chr2	25194767	25194767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccgcttcggcatgttggCctccatggccctggctctct	10	16	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:25194767C>T	uc002rft.1	-	1	58	c.7G>A	c.(7-9)GCC>ACC	p.A3T	DNAJC27_uc010ykn.1_5'Flank|DNAJC27_uc002rfu.1_RNA|DNAJC27_uc010eyg.1_Missense_Mutation_p.A3T|uc002rfv.2_5'Flank	NM_016544	NP_057628	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	3					protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding			skin(1)	1						GGCATGTTGGCCTCCATGGCC	0.662													T	25194767	C	T	25194767	3	4	65	1	0	0	0	0	1	0	0	0	4645	739	26	2	842	2	DNAJC27	2	25194767	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	133278	25194767	218004606	150	46976											
CAD	790	broad.mit.edu	37	chr2	27458503	27458503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttctacactgagcatggcGtcaaggtgcaggaactctgg	12	10	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:27458503G>A	uc002rji.2	+	25	4231	c.4069G>A	c.(4069-4071)GTC>ATC	p.V1357I	CAD_uc010eyw.2_Missense_Mutation_p.V1294I	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1357	CPSase B.|CPSase (Carbamoyl-phosphate synthase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGAGCATGGCGTCAAGGTGCA	0.512													A	27458503	G	A	27458503	3	1	65	1	0	0	0	0	1	0	0	0	2565	1145	40	1	4167	1	CAD	2	27458503	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2263736	27458503	215740870	151	46977											
PPM1G	5496	broad.mit.edu	37	chr2	27608664	27608664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcttcatcctcagtgggtCgccctgcaatctgtgccagc	9	15	4	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:27608664C>T	uc002rkl.2	-	5	466	c.359G>A	c.(358-360)CGA>CAA	p.R120Q	PPM1G_uc002rkm.2_5'UTR	NM_002707	NP_002698	O15355	PPM1G_HUMAN	protein phosphatase 1G	120					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					CTCAGTGGGTCGCCCTGCAAT	0.408													T	27608664	C	T	27608664	3	4	65	1	0	0	0	0	1	0	0	0	12340	884	31	1	1309	1	PPM1G	2	27608664	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	150161	27608664	215590709	152	46978											
CLIP4	79745	broad.mit.edu	37	chr2	29404624	29404624	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacttgagctccgaagcgcCaagggaaaaaatgatgggtc	14	8	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:29404624C>A	uc002rmv.2	+	16	2222	c.1983C>A	c.(1981-1983)GCC>GCA	p.A661A	CLIP4_uc002rmw.2_RNA	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	661	CAP-Gly 3.									ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					TCCGAAGCGCCAAGGGAAAAA	0.527													A	29404624	C	A	29404624	2	1	65	1	0	0	0	0	0	0	0	1	3535	581	21	5		5	CLIP4	2	29404624	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1795960	29404624	213794749	153	46979											
EHD3	30845	broad.mit.edu	37	chr2	31489099	31489099	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgaagagcaagctgctGgaggtagtggacgacatgct	15	9	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:31489099G>T	uc002rnu.2	+	6	1745	c.1137G>T	c.(1135-1137)CTG>CTT	p.L379L	EHD3_uc010ymt.1_3'UTR	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	379					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)					GCAAGCTGCTGGAGGTAGTGG	0.582													T	31489099	G	T	31489099	2	4	65	1	0	0	0	0	0	0	0	1	4979	1335	47	5		5	EHD3	2	31489099	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2084475	31489099	211710274	154	46980											
XDH	7498	broad.mit.edu	37	chr2	31593290	31593290	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccaggaacatcatcagcGgaaatgaaacaaacaaaccc	6	13	2	1	rs142197675	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:31593290G>A	uc002rnv.1	-	18	1990	c.1911C>T	c.(1909-1911)TCC>TCT	p.S637S		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	637					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CATCATCAGCGGAAATGAAAC	0.418													A	31593290	G	A	31593290	2	1	65	1	0	0	0	0	0	0	0	1	17423	1103	39	1		1	XDH	2	31593290	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	104191	31593290	211606083	155	46981											
LTBP1	4052	broad.mit.edu	37	chr2	33572473	33572473	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcagtggggtgtgtggtgAagccttctgtgaaaacgtgg	17	6	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:33572473A>G	uc002ros.2	+	26	3899	c.3899A>G	c.(3898-3900)GAA>GGA	p.E1300G	LTBP1_uc002rot.2_Missense_Mutation_p.E974G|LTBP1_uc002rou.2_Missense_Mutation_p.E973G|LTBP1_uc002rov.2_Missense_Mutation_p.E920G|LTBP1_uc010ymz.1_Missense_Mutation_p.E931G|LTBP1_uc010yna.1_Missense_Mutation_p.E878G|LTBP1_uc010ynb.1_Missense_Mutation_p.E197G	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1299	EGF-like 14; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTGTGTGGTGAAGCCTTCTGT	0.527													G	33572473	A	G	33572473	3	3	65	1	0	0	0	0	1	0	0	0	9073	246	9	3	4053	3	LTBP1	2	33572473	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	1979183	33572473	209626900	156	46982											
SLC8A1	6546	broad.mit.edu	37	chr2	40656427	40656427	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tggatgcttctgcttaagttCcttcagaatcctagccattt	7	10	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:40656427C>A	uc002rrx.2	-	1	1018	c.994G>T	c.(994-996)GAA>TAA	p.E332*	SLC8A1_uc002rry.2_Nonsense_Mutation_p.E332*|SLC8A1_uc002rrz.2_Nonsense_Mutation_p.E332*|SLC8A1_uc002rsa.2_Nonsense_Mutation_p.E332*|SLC8A1_uc002rsd.3_Nonsense_Mutation_p.E332*|SLC8A1_uc002rsb.1_Nonsense_Mutation_p.E332*|SLC8A1_uc010fan.1_Nonsense_Mutation_p.E332*|SLC8A1_uc002rsc.1_Nonsense_Mutation_p.E332*	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	332	Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGCTTAAGTTCCTTCAGAATC	0.398													A	40656427	C	A	40656427	4	1	65	1	0	0	0	0	0	1	0	0	14706	864	30	5	2075	5	SLC8A1	2	40656427	Nonsense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	7083954	40656427	202542946	157	46983											
EFEMP1	2202	broad.mit.edu	37	chr2	56098186	56098186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggatttcgtggataacaaCggaagccgccatgataattc	10	8	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:56098186C>T	uc002rzh.2	-	9	1403	c.1073G>A	c.(1072-1074)CGT>CAT	p.R358H	EFEMP1_uc002rzi.2_Missense_Mutation_p.R358H|EFEMP1_uc002rzj.2_Missense_Mutation_p.R358H|EFEMP1_uc010ypc.1_Missense_Mutation_p.R220H	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	358	Mediates interaction with TIMP3.|EGF-like 6; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGGATAACAACGGAAGCCGCC	0.393													T	56098186	C	T	56098186	3	4	65	1	0	0	0	0	1	0	0	0	4941	536	19	1	420	1	EFEMP1	2	56098186	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	15441759	56098186	187101187	158	46984											
USP34	9736	broad.mit.edu	37	chr2	61433932	61433932	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgtgtagacttcaaaacCgaaagaaatattgacagaag	11	6	1	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:61433932C>T	uc002sbe.2	-	71	9031	c.9009G>A	c.(9007-9009)TCG>TCA	p.S3003S	USP34_uc002sbd.2_5'Flank	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	3003					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			ACTTCAAAACCGAAAGAAATA	0.373													T	61433932	C	T	61433932	2	4	65	1	0	0	0	0	0	0	0	1	17062	639	23	1		1	USP34	2	61433932	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	5335746	61433932	181765441	159	46985											
XPO1	7514	broad.mit.edu	37	chr2	61709583	61709583	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaaagatttggttgttAactggatttccaggatttaa	10	3	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:61709583A>G	uc002sbj.2	-	23	3632	c.2904T>C	c.(2902-2904)GTT>GTC	p.V968V	XPO1_uc010fcl.2_Silent_p.V964V|XPO1_uc010ypn.1_Silent_p.V964V|XPO1_uc002sbk.2_Silent_p.V529V|XPO1_uc002sbg.2_Silent_p.V165V|XPO1_uc002sbh.2_Silent_p.V615V	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	968					intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TTTGGTTGTTAACTGGATTTC	0.328													G	61709583	A	G	61709583	2	3	65	1	0	0	0	0	0	0	0	1	17442	349	13	3		3	XPO1	2	61709583	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	275651	61709583	181489790	160	46986											
ARHGAP25	9938	broad.mit.edu	37	chr2	69049474	69049474	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccatttcttttctagacAagcgactctgatacaaccag	7	11	3	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:69049474A>G	uc002seu.2	+	10	1564	c.1200A>G	c.(1198-1200)ACA>ACG	p.T400T	ARHGAP25_uc010fdg.2_Silent_p.T401T|ARHGAP25_uc010yql.1_Silent_p.T361T|ARHGAP25_uc002sew.2_Silent_p.T393T|ARHGAP25_uc002sex.2_Silent_p.T394T|ARHGAP25_uc002sey.2_Silent_p.T127T	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	400					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						TTTTCTAGACAAGCGACTCTG	0.512													G	69049474	A	G	69049474	2	3	65	1	0	0	0	0	0	0	0	1	874	117	5	3		3	ARHGAP25	2	69049474	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	7339891	69049474	174149899	161	46987											
AAK1	22848	broad.mit.edu	37	chr2	69732777	69732777	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgggatcaaactctcagcTgagcctccaagcttctcggg	10	14	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:69732777T>C	uc002sfp.2	-	16	2698	c.2193A>G	c.(2191-2193)TCA>TCG	p.S731S	AAK1_uc010fdk.2_Silent_p.S731S|AAK1_uc010yqm.1_Silent_p.S732S	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	731						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0						AACTCTCAGCTGAGCCTCCAA	0.483													C	69732777	T	C	69732777	2	2	65	1	0	0	0	0	0	0	0	1	16	1567	55	3		3	AAK1	2	69732777	Silent	SNP	T	TCGA-BR-8081-01A-11D-2340-08	683303	69732777	173466596	162	46988											
ATP6V1B1	525	broad.mit.edu	37	chr2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-													tttcttctccctcagatctaCccccccatcaacgtgctccc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:71191572_71191572AC>A	uc002shj.3	+	11	1235	c.1148_1148AC>A	c.(1147-1149)tacfs	p.Y383fs	ATP6V1B1_uc010fdx.3_Frame_Shift_Del_p.Y341fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	383					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATC	0.542											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	71191573	C	-	71191573	7	5	65	1	0	1	0	1	0	0	0	0	1178	518	18	0	1195	0	ATP6V1B1	2	71191573	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	1458796	71191573	172007800	163	46989											
ZNF638	27332	broad.mit.edu	37	chr2	71576635	71576635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaatgcgaaaaatggggcGccgattacctaatttacctt	9	8	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:71576635G>A	uc002shx.2	+	2	870	c.551G>A	c.(550-552)CGC>CAC	p.R184H	ZNF638_uc010fec.2_Missense_Mutation_p.R290H|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.R184H|ZNF638_uc002shy.2_Missense_Mutation_p.R184H|ZNF638_uc002shz.2_Missense_Mutation_p.R184H|ZNF638_uc002sia.2_Missense_Mutation_p.R184H|ZNF638_uc002sib.1_Missense_Mutation_p.R184H	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	184					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						AAAATGGGGCGCCGATTACCT	0.373													A	71576635	G	A	71576635	3	1	65	1	0	0	0	0	1	0	0	0	18052	1087	38	1	553	1	ZNF638	2	71576635	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	385062	71576635	171622738	164	46990											
FAM176A	84141	broad.mit.edu	37	chr2	75720679	75720679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagagcagccagggtcaGcaccagcccgatgcacacgc	11	17	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:75720679G>A	uc002sni.2	-	4	620	c.142C>T	c.(142-144)CTG>TTG	p.L48L	FAM176A_uc002snj.1_Silent_p.L35L|FAM176A_uc002snk.1_Silent_p.L48L	NM_001135032	NP_001128504	Q9H8M9	F176A_HUMAN	family with sequence similarity 176, member A	48	Necessary for the localization and biological activity.|Helical; (Potential).				apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane					0						GCCAGGGTCAGCACCAGCCCG	0.552													A	75720679	G	A	75720679	2	1	65	1	0	0	0	0	0	0	0	1	5499	962	34	2		2	FAM176A	2	75720679	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	4144044	75720679	167478694	165	46991											
LRRTM4	80059	broad.mit.edu	37	chr2	77746720	77746720	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctaatgtaattatggtcaAgataaagccatataagctgg	9	5	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:77746720A>C	uc002snr.2	-	3	690	c.275T>G	c.(274-276)CTT>CGT	p.L92R	LRRTM4_uc002snq.2_Missense_Mutation_p.L92R|LRRTM4_uc002sns.2_Missense_Mutation_p.L92R|LRRTM4_uc002snt.2_Missense_Mutation_p.L93R	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	92	LRR 2.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		ATTATGGTCAAGATAAAGCCA	0.388													C	77746720	A	C	77746720	3	2	65	1	0	0	0	0	1	0	0	0	9042	72	3	5	1511	5	LRRTM4	2	77746720	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	2026041	77746720	165452653	166	46992											
CTNNA2	1496	broad.mit.edu	37	chr2	80101447	80101447	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgggcatcggcgagctggcTgcggctcttaatgagtttga	15	9	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:80101447T>C	uc010ysh.1	+	5	836	c.831T>C	c.(829-831)GCT>GCC	p.A277A	CTNNA2_uc010yse.1_Silent_p.A277A|CTNNA2_uc010ysf.1_Silent_p.A277A|CTNNA2_uc010ysg.1_Silent_p.A277A	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	277					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						GCGAGCTGGCTGCGGCTCTTA	0.547													C	80101447	T	C	80101447	2	2	65	1	0	0	0	0	0	0	0	1	4013	1567	55	3		3	CTNNA2	2	80101447	Silent	SNP	T	TCGA-BR-8081-01A-11D-2340-08	2354727	80101447	163097926	167	46993											
USP39	10713	broad.mit.edu	37	chr2	85846392	85846392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaggagccgccactgcccGtacctggacaccattaacag	11	15	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:85846392G>A	uc002sqe.2	+	2	354	c.318G>A	c.(316-318)CCG>CCA	p.P106P	USP39_uc002sqb.2_5'UTR|USP39_uc010ysu.1_Silent_p.P28P|USP39_uc010ysv.1_Silent_p.P28P|USP39_uc010fgn.1_Silent_p.P106P|USP39_uc002sqf.2_Silent_p.P106P|USP39_uc002sqg.2_Silent_p.P106P|USP39_uc010fgo.2_Silent_p.P106P	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	ubiquitin specific protease 39	106					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)	1						GCCACTGCCCGTACCTGGACA	0.473													A	85846392	G	A	85846392	2	1	65	1	0	0	0	0	0	0	0	1	17067	1132	40	1		1	USP39	2	85846392	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	5744945	85846392	157352981	168	46994											
FER1L5	90342	broad.mit.edu	37	chr2	97370099	97370099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttcatctattcagctccGgtgagtggcagccatggggg	13	10	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:97370099G>A	uc010fia.2	+	51	6057	c.6057G>A	c.(6055-6057)CCG>CCA	p.P2019P	FER1L5_uc002sws.3_Silent_p.P728P|FER1L5_uc002swt.3_Silent_p.P728P|FER1L5_uc010yus.1_Silent_p.P727P	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	2019						integral to membrane				ovary(1)	1						ATTCAGCTCCGGTGAGTGGCA	0.483													A	97370099	G	A	97370099	2	1	65	1	0	0	0	0	0	0	0	1	5814	1130	39	1		1	FER1L5	2	97370099	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	11523707	97370099	145829274	169	46995											
AFF3	3899	broad.mit.edu	37	chr2	100210562	100210563	+	Frame_Shift_Del	DEL	TC	TC	-													gcaagtgctcttgatctcctTctctctcaggctgggctggc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:100210561_100210562TTC>T	uc002taf.3	-	13	1780_1781	c.1636_1637GAA>A	c.(1636-1638)aagfs	p.K546fs	AFF3_uc002tag.3_Frame_Shift_Del_p.K521fs|AFF3_uc010fiq.1_Frame_Shift_Del_p.K521fs|AFF3_uc010yvr.1_Frame_Shift_Del_p.K674fs|AFF3_uc002tah.1_Frame_Shift_Del_p.K546fs	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	521					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTTGATCTCCTTCTCTCTCAGG	0.594													-	100210563	TC	-	100210562	7	5	65	1	0	1	0	1	0	0	0	0	358	1792	62	0	2163	0	AFF3	2	100210562	Frame_Shift_Del	DEL	TC	TCGA-BR-8081-01A-11D-2340-08	2840463	100210562	142988811	170	46996											
NCK2	8440	broad.mit.edu	37	chr2	106509597	106509597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcttcaccagcgagcacGgggagaagctctacctcgtc	10	15	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:106509597G>A	uc002tdg.2	+	5	1550	c.1108G>A	c.(1108-1110)GGG>AGG	p.G370R	NCK2_uc002tdh.2_3'UTR|NCK2_uc002tdi.2_Missense_Mutation_p.G370R	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	370	SH2.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			ovary(1)|lung(1)	2						CAGCGAGCACGGGGAGAAGCT	0.672													A	106509597	G	A	106509597	3	1	65	1	0	0	0	0	1	0	0	0	10220	1116	39	1	1118	1	NCK2	2	106509597	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	6299035	106509597	136689776	171	46997											
FOXD4L1	200350	broad.mit.edu	37	chr2	114257389	114257389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctactggagcctggaccccGcctcccaggacatgttcgac	10	17	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:114257389G>A	uc002tjw.3	+	1	729	c.556G>A	c.(556-558)GCC>ACC	p.A186T		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	186	Fork-head.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						CCTGGACCCCGCCTCCCAGGA	0.652													A	114257389	G	A	114257389	3	1	65	1	0	0	0	0	1	0	0	0	6000	1087	38	1	558	1	FOXD4L1	2	114257389	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	7747792	114257389	128941984	172	46998											
DPP10	57628	broad.mit.edu	37	chr2	116572537	116572537	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaagattaggttcagtagaAgtaaaggaccaaataacagc	10	6	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:116572537A>C	uc002tla.1	+	20	2326	c.1869A>C	c.(1867-1869)GAA>GAC	p.E623D	DPP10_uc002tlb.1_Missense_Mutation_p.E573D|DPP10_uc002tlc.1_Missense_Mutation_p.E619D|DPP10_uc002tle.2_Missense_Mutation_p.E627D|DPP10_uc002tlf.1_Missense_Mutation_p.E616D	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	623	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						GTTCAGTAGAAGTAAAGGACC	0.358													C	116572537	A	C	116572537	3	2	65	1	0	0	0	0	1	0	0	0	4727	69	3	5	2118	5	DPP10	2	116572537	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	2315148	116572537	126626836	173	46999											
SMPD4	55627	broad.mit.edu	37	chr2	130930247	130930247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatatgtaatactcgaacGgatctgagagcagcgtcagg	12	7	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:130930247G>A	uc002tqq.1	-	7	1095	c.575C>T	c.(574-576)CCG>CTG	p.P192L	SMPD4_uc002tqp.1_5'UTR|SMPD4_uc010yzy.1_Intron|SMPD4_uc010yzz.1_Intron|SMPD4_uc002tqr.1_Missense_Mutation_p.P192L|SMPD4_uc002tqs.1_Missense_Mutation_p.P60L|SMPD4_uc002tqt.1_Missense_Mutation_p.P70L|SMPD4_uc010zaa.1_Missense_Mutation_p.P79L|SMPD4_uc010zab.1_Missense_Mutation_p.P119L|SMPD4_uc010zac.1_Intron|SMPD4_uc010zad.1_Intron	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4 isoform 2	153					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity				0	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	atactcGAACGGATCTGAGAG	0.473													A	130930247	G	A	130930247	3	1	65	1	0	0	0	0	1	0	0	0	14807	1116	39	1	2081	1	SMPD4	2	130930247	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	14357710	130930247	112269126	174	47000											
NCKAP5	344148	broad.mit.edu	37	chr2	133541594	133541594	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggacctgcctggagggggCggaggggaaggggatttcac	20	8	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:133541594C>T	uc002ttp.2	-	14	3164	c.2790G>A	c.(2788-2790)CCG>CCA	p.P930P	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	930	Poly-Pro.						protein binding				0						CTGGAGGGGGCGGAGGGGAAG	0.622													T	133541594	C	T	133541594	2	4	65	1	0	0	0	0	0	0	0	1	10223	755	27	1		1	NCKAP5	2	133541594	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2611347	133541594	109657779	175	47001											
NEB	4703	broad.mit.edu	37	chr2	152522788	152522788	+	Frame_Shift_Del	DEL	T	T	-													tcttgctggcttcatagcccTttttgtactcacgatcagac							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:152522787_152522787CT>C	uc021vrb.1	-	38	4877	c.4848_4848AG>G	c.(4846-4848)aagfs	p.K1616fs	NEB_uc002txu.3_Frame_Shift_Del_p.K1616fs|NEB_uc021vrc.1_Frame_Shift_Del_p.K1616fs|NEB_uc010fnx.3_Frame_Shift_Del_p.K1616fs|NEB_uc021vrd.1_Frame_Shift_Del_p.K1616fs	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1616					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTCATAGCCCTTTTTGTACT	0.468													-	152522788	T	-	152522788	7	5	65	1	0	1	0	1	0	0	0	0	10302	1609	56	0	21407	0	NEB	2	152522788	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	18981194	152522788	90676585	176	47002											
BAZ2B	29994	broad.mit.edu	37	chr2	160181327	160181327	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgatttacttactgtccActacttagtttctctctaat	3	9	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:160181327A>G	uc002uao.2	-	36	6700	c.6348T>C	c.(6346-6348)AGT>AGC	p.S2116S	BAZ2B_uc002uap.2_Silent_p.S2080S	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	2116	Bromo.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						CTTACTGTCCACTACTTAGTT	0.199													G	160181327	A	G	160181327	2	3	65	1	0	0	0	0	0	0	0	1	1332	156	6	3		3	BAZ2B	2	160181327	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	7658539	160181327	83018046	177	47003											
FAP	2191	broad.mit.edu	37	chr2	163099429	163099429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcttacctcttgaagggCgtaagacaatgcacatcacc	8	11	3	2	rs145562225		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:163099429C>T	uc002ucd.2	-	2	288	c.80G>A	c.(79-81)CGC>CAC	p.R27H	FAP_uc010zct.1_Missense_Mutation_p.R27H|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Missense_Mutation_p.R27H	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	27	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3						TCTTGAAGGGCGTAAGACAAT	0.388													T	163099429	C	T	163099429	3	4	65	1	0	0	0	0	1	0	0	0	5673	768	27	1	2302	1	FAP	2	163099429	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2918102	163099429	80099944	178	47004											
XIRP2	129446	broad.mit.edu	37	chr2	168105457	168105457	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacagattgcgcctcttAtaaaatctcattcatttcca	3	10	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:168105457A>G	uc002udx.2	+	8	7573	c.7555A>G	c.(7555-7557)ATA>GTA	p.I2519V	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.I2344V|XIRP2_uc010fpq.2_Missense_Mutation_p.I2297V|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2344					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TGCGCCTCTTATAAAATCTCA	0.348													G	168105457	A	G	168105457	3	3	65	1	0	0	0	0	1	0	0	0	17427	449	16	3	7585	3	XIRP2	2	168105457	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	5006028	168105457	75093916	179	47005											
LRP2	4036	broad.mit.edu	37	chr2	169996081	169996081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagatgccttttgaaaaCgccatttcacaatattttcc	7	9	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:169996081C>T	uc002ues.2	-	73	13452	c.13239G>A	c.(13237-13239)GCG>GCA	p.A4413A		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4413	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTTTTGAAAACGCCATTTCAC	0.398													T	169996081	C	T	169996081	2	4	65	1	0	0	0	0	0	0	0	1	8956	523	19	1		1	LRP2	2	169996081	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1890624	169996081	73203292	180	47006											
FASTKD1	79675	broad.mit.edu	37	chr2	170416906	170416906	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgaacttactgtttctttTcttcaggtcctgcaatgggt	8	9	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:170416906T>C	uc002uev.3	-	5	1350	c.962A>G	c.(961-963)GAA>GGA	p.E321G	FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.E307G|FASTKD1_uc002uey.2_Missense_Mutation_p.E284G	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	321					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(4)	4						CTGTTTCTTTTCTTCAGGTCC	0.383													C	170416906	T	C	170416906	3	2	65	1	0	0	0	0	1	0	0	0	5685	1783	62	3	1625	3	FASTKD1	2	170416906	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	420825	170416906	72782467	181	47007											
GORASP2	26003	broad.mit.edu	37	chr2	171822458	171822458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcccgcccaccagcaacGcaccctccgaccctgccaca	5	25	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:171822458G>A	uc002ugk.2	+	10	1317	c.1177G>A	c.(1177-1179)GCA>ACA	p.A393T	GORASP2_uc002ugj.2_Missense_Mutation_p.A325T|GORASP2_uc010zdl.1_Missense_Mutation_p.A405T|GORASP2_uc010zdm.1_Missense_Mutation_p.A349T|GORASP2_uc002ugl.2_Missense_Mutation_p.A325T|GORASP2_uc002ugm.2_Missense_Mutation_p.A175T	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2	393						Golgi membrane				breast(1)|central_nervous_system(1)	2						CACCAGCAACGCACCCTCCGA	0.627													A	171822458	G	A	171822458	3	1	65	1	0	0	0	0	1	0	0	0	6576	1087	38	1	1215	1	GORASP2	2	171822458	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1405552	171822458	71376915	182	47008											
CDCA7	83879	broad.mit.edu	37	chr2	174229545	174229545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaaggagaccgcgaaggcGtacattcccgggtgttgctt	13	10	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:174229545G>A	uc002uid.1	+	5	616	c.485G>A	c.(484-486)CGT>CAT	p.R162H	CDCA7_uc002uic.1_Missense_Mutation_p.R241H|CDCA7_uc010zej.1_Missense_Mutation_p.R197H|CDCA7_uc010zek.1_Missense_Mutation_p.R120H	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7 isoform 2	162	Arg-rich.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.116)			CCGCGAAGGCGTACATTCCCG	0.498													A	174229545	G	A	174229545	3	1	65	1	0	0	0	0	1	0	0	0	3090	1145	40	1	744	1	CDCA7	2	174229545	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2407087	174229545	68969828	183	47009											
OSBPL6	114880	broad.mit.edu	37	chr2	179259111	179259111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggaactccagagatctcGgagacgatatatggaagaaa	12	6	1	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:179259111G>A	uc002ulx.2	+	24	3023	c.2645G>A	c.(2644-2646)CGG>CAG	p.R882Q	OSBPL6_uc002uly.2_Missense_Mutation_p.R907Q|OSBPL6_uc010zfe.1_Missense_Mutation_p.R851Q|OSBPL6_uc002ulz.2_Missense_Mutation_p.R846Q|OSBPL6_uc002uma.2_Missense_Mutation_p.R886Q	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	882					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CAGAGATCTCGGAGACGATAT	0.358													A	179259111	G	A	179259111	3	1	65	1	0	0	0	0	1	0	0	0	11281	1116	39	1	2853	1	OSBPL6	2	179259111	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	5029566	179259111	63940262	184	47010											
TTN	7273	broad.mit.edu	37	chr2	179397429	179397429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataatcaggagaaggtgtaCgccggcgggctggtctcact	14	10	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:179397429C>T	uc010zfg.1	-	307	96433	c.96209G>A	c.(96208-96210)CGT>CAT	p.R32070H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R25765H|TTN_uc010zfi.1_Missense_Mutation_p.R25698H|TTN_uc010zfj.1_Missense_Mutation_p.R25573H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32997							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAAGGTGTACGCCGGCGGGC	0.458													T	179397429	C	T	179397429	3	4	65	1	0	0	0	0	1	0	0	0	16732	536	19	1	4086	1	TTN	2	179397429	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	138318	179397429	63801944	185	47011											
TTN	7273	broad.mit.edu	37	chr2	179414715	179414715	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagctattttaaaagtacctTgtactttcactttaatttct	3	7	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:179414715T>C	uc010zfg.1	-	286	84370	c.84146A>G	c.(84145-84147)CAA>CGA	p.Q28049R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q21744R|TTN_uc010zfi.1_Missense_Mutation_p.Q21677R|TTN_uc010zfj.1_Missense_Mutation_p.Q21552R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28976							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAAGTACCTTGTACTTTCAC	0.353													C	179414715	T	C	179414715	3	2	65	1	0	0	0	0	1	0	0	0	16732	1812	63	3	16233	3	TTN	2	179414715	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	17286	179414715	63784658	186	47012											
TTN	7273	broad.mit.edu	37	chr2	179535860	179535861	+	Frame_Shift_Ins	INS	-	-	T													gaacaactttagtgggcggtINSttttttggagggatgatttt							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:179535859_179535860G>GT	uc021vsy.1	-	150	31587_31588	c.31362_31363C>AC	c.(31360-31365)aaaccgfs	p.K10454fs	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Frame_Shift_Ins_p.K7115fs|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11381	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGTGGGCGGTTTTTTTGGAG	0.366													T	179535861	-	T	179535860	7	5	65	1	0	1	1	0	0	0	0	0	16732	1722	60	0	69271	0	TTN	2	179535860	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	121145	179535860	63663513	187	47013											
TTN	7273	broad.mit.edu	37	chr2	179590652	179590652	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgctgcttctgagttgCcgcttgtctttgtaccatac	8	11	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:179590652C>T	uc010zfg.1	-	67	16889	c.16665G>A	c.(16663-16665)CGG>CGA	p.R5555R	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.R2216R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6482							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGAGTTGCCGCTTGTCTT	0.423													T	179590652	C	T	179590652	2	4	65	1	0	0	0	0	0	0	0	1	16732	726	26	2		2	TTN	2	179590652	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	54792	179590652	63608721	188	47014											
ITGA4	3676	broad.mit.edu	37	chr2	182374394	182374394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttccttagaaagatgtgCgggacatcctcaccccaatt	7	11	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:182374394C>T	uc002unu.2	+	16	2468	c.1705C>T	c.(1705-1707)CGG>TGG	p.R569W	ITGA4_uc010frj.1_Missense_Mutation_p.R51W	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	569	Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GAAAGATGTGCGGGACATCCT	0.398													T	182374394	C	T	182374394	3	4	65	1	0	0	0	0	1	0	0	0	7878	759	27	1	1767	1	ITGA4	2	182374394	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2783742	182374394	60824979	189	47015											
NCKAP1	10787	broad.mit.edu	37	chr2	183860434	183860434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaatagaaccatacagtgtCggactgtgctggattaagca	10	7	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:183860434C>T	uc002upc.2	-	7	1138	c.736G>A	c.(736-738)GAC>AAC	p.D246N	NCKAP1_uc002upb.2_Missense_Mutation_p.D252N	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	246					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CATACAGTGTCGGACTGTGCT	0.368													T	183860434	C	T	183860434	3	4	65	1	0	0	0	0	1	0	0	0	10221	884	31	1	2750	1	NCKAP1	2	183860434	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1486040	183860434	59338939	190	47016											
COL5A2	1290	broad.mit.edu	37	chr2	189927977	189927977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctggaggacctggacggCcatcttcccctggcgcaccc	12	17	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:189927977C>T	uc002uqk.2	-	27	2065	c.1790G>A	c.(1789-1791)GGC>GAC	p.G597D	COL5A2_uc010frx.2_Missense_Mutation_p.G173D	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	597					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACCTGGACGGCCATCTTCCCC	0.507													T	189927977	C	T	189927977	3	4	65	1	0	0	0	0	1	0	0	0	3697	739	26	2	2821	2	COL5A2	2	189927977	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	6067543	189927977	53271396	191	47017											
ANKRD44	91526	broad.mit.edu	37	chr2	197986194	197986194	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccgtagtcaatcaactcGttaaccacagcatcctgtcc	6	15	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:197986194G>A	uc002uuc.2	-	8	935	c.768C>T	c.(766-768)AAC>AAT	p.N256N	ANKRD44_uc002utz.3_Translation_Start_Site|ANKRD44_uc002uua.1_Silent_p.N231N|ANKRD44_uc002uub.2_Silent_p.N256N|ANKRD44_uc010zgw.1_Silent_p.N184N	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	256	ANK 8.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAATCAACTCGTTAACCACAG	0.463													A	197986194	G	A	197986194	2	1	65	1	0	0	0	0	0	0	0	1	672	1136	40	1		1	ANKRD44	2	197986194	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	8058217	197986194	45213179	192	47018											
RFTN2	130132	broad.mit.edu	37	chr2	198540105	198540105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtctttgtttccacttgCggtctcttcagggtagaaaa	9	9	4	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:198540105C>T	uc002uuo.3	-	1	480	c.78G>A	c.(76-78)CCG>CCA	p.P26P		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	26						plasma membrane					0						TTTCCACTTGCGGTCTCTTCA	0.373													T	198540105	C	T	198540105	2	4	65	1	0	0	0	0	0	0	0	1	13259	755	27	1		1	RFTN2	2	198540105	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	553911	198540105	44659268	193	47019											
PLCL1	5334	broad.mit.edu	37	chr2	198949404	198949405	+	Frame_Shift_Ins	INS	-	-	T													ttgtcatcagaatgtgacatINSttttgatcctgagcaaaaga							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:198949403_198949404A>AT	uc010fsp.3	+	1	1560_1561	c.1162_1163A>AT	c.(1162-1164)attfs	p.I388fs	PLCL1_uc002uuv.4_Frame_Shift_Ins_p.I309fs	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	388					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGAATGTGACATTTTTGATCCT	0.391													T	198949405	-	T	198949404	7	5	65	1	0	1	1	0	0	0	0	0	12039	1493	52	0	1169	0	PLCL1	2	198949404	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	409299	198949404	44249969	194	47020											
KCTD18	130535	broad.mit.edu	37	chr2	201371662	201371662	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcggcacaaggactcccgCcgggctgtgtaaatacagcc	12	13	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:201371662C>T	uc002uvs.2	-	2	595	c.78G>A	c.(76-78)CGG>CGA	p.R26R	KCTD18_uc002uvt.2_Silent_p.R26R|KCTD18_uc002uvu.1_Silent_p.R26R	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain	26	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1						AGGACTCCCGCCGGGCTGTGT	0.502													T	201371662	C	T	201371662	2	4	65	1	0	0	0	0	0	0	0	1	8105	726	26	2		2	KCTD18	2	201371662	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2422258	201371662	41827711	195	47021											
BMPR2	659	broad.mit.edu	37	chr2	203383560	203383560	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcagctgattggccgaggtCgatatggagcagtatataaa	13	6	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:203383560C>T	uc002uzf.3	+	6	1785	c.637C>T	c.(637-639)CGA>TGA	p.R213*	BMPR2_uc010ftr.2_Nonsense_Mutation_p.R213*	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	213	ATP.|Protein kinase.|Cytoplasmic (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						TGGCCGAGGTCGATATGGAGC	0.343													T	203383560	C	T	203383560	4	4	65	1	0	0	0	0	0	1	0	0	1471	876	31	1	659	1	BMPR2	2	203383560	Nonsense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2011898	203383560	39815813	196	47022											
FAM117B	150864	broad.mit.edu	37	chr2	203622015	203622015	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgcgcagcattgacacacAgacgcctggtggggcagaca	13	13	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:203622015A>C	uc010zhx.1	+	6	1194	c.1184A>C	c.(1183-1185)CAG>CCG	p.Q395P		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	395										ovary(1)	1						ATTGACACACAGACGCCTGGT	0.542													C	203622015	A	C	203622015	3	2	65	1	0	0	0	0	1	0	0	0	5410	188	7	5	1206	5	FAM117B	2	203622015	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	238455	203622015	39577358	197	47023											
CTLA4	1493	broad.mit.edu	37	chr2	204735367	204735367	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agccgaggcatcgccagcttTgtgtgtgagtatgcatctcc	12	11	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:204735367T>A	uc002vak.1	+	2	325	c.168T>A	c.(166-168)TTT>TTA	p.F56L	CTLA4_uc002val.1_Missense_Mutation_p.F56L|CTLA4_uc010fty.1_Missense_Mutation_p.F56L|CTLA4_uc010ftz.1_Intron	NM_005214	NP_005205	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	56	Ig-like V-type.|Extracellular (Potential).				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm					0					Abatacept(DB01281)	TCGCCAGCTTTGTGTGTGAGT	0.577													A	204735367	T	A	204735367	3	1	65	1	0	0	0	0	1	0	0	0	4011	1809	63	5	174	5	CTLA4	2	204735367	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	1113352	204735367	38464006	198	47024											
PARD3B	117583	broad.mit.edu	37	chr2	206305302	206305302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggaccatttggttaccctCgggatggccatccactgtct	10	13	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:206305302C>T	uc002var.1	+	20	3157	c.2950C>T	c.(2950-2952)CGG>TGG	p.R984W	PARD3B_uc002vao.1_Intron|PARD3B_uc002vap.1_Missense_Mutation_p.R922W|PARD3B_uc002vaq.1_Missense_Mutation_p.R915W	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	984					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TGGTTACCCTCGGGATGGCCA	0.507													T	206305302	C	T	206305302	3	4	65	1	0	0	0	0	1	0	0	0	11444	875	31	1	3028	1	PARD3B	2	206305302	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1569935	206305302	36894071	199	47025											
MAP2	4133	broad.mit.edu	37	chr2	210560533	210560533	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccagatatatccatcacGccttctgatgttgcagagcc	7	14	2	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:210560533G>A	uc002vde.1	+	7	3887	c.3639G>A	c.(3637-3639)ACG>ACA	p.T1213T	MAP2_uc002vdc.1_Silent_p.T1213T|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.T1209T	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1213					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TATCCATCACGCCTTCTGATG	0.453													A	210560533	G	A	210560533	2	1	65	1	0	0	0	0	0	0	0	1	9235	1074	38	1		1	MAP2	2	210560533	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	4255231	210560533	32638840	200	47026											
MAP2	4133	broad.mit.edu	37	chr2	210574923	210574923	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actgccagacctgaagaatgTcaaatccaaaatcggatcaa	7	10	2	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:210574923T>A	uc002vde.1	+	12	5266	c.5018T>A	c.(5017-5019)GTC>GAC	p.V1673D	MAP2_uc002vdd.1_Missense_Mutation_p.V374D|MAP2_uc002vdf.1_Missense_Mutation_p.V317D|MAP2_uc002vdg.1_Missense_Mutation_p.V317D|MAP2_uc002vdh.1_Missense_Mutation_p.V374D|MAP2_uc002vdi.1_Missense_Mutation_p.V1669D	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1673	Tau/MAP 1.				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CTGAAGAATGTCAAATCCAAA	0.438													A	210574923	T	A	210574923	3	1	65	1	0	0	0	0	1	0	0	0	9235	1667	58	5	5227	5	MAP2	2	210574923	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	14390	210574923	32624450	201	47027											
RPE	6120	broad.mit.edu	37	chr2	210882238	210882238	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcccatctttggatatagaGgtcgatggtggagtaggtcc	13	7	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:210882238G>T	uc002vdn.2	+	5	524	c.519G>T	c.(517-519)GAG>GAT	p.E173D	RPE_uc002vdm.2_Missense_Mutation_p.E173D|RPE_uc002vdo.2_Missense_Mutation_p.E123D|RPE_uc010zjf.1_Intron|RPE_uc002vdp.2_Missense_Mutation_p.E120D|RPE_uc010fup.2_Missense_Mutation_p.E105D|RPE_uc002vdq.2_Missense_Mutation_p.E123D|RPE_uc002vdr.2_Missense_Mutation_p.E88D	NM_199229	NP_954699	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase isoform 1	173					pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity				0				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		TGGATATAGAGGTCGATGGTG	0.403													T	210882238	G	T	210882238	3	4	65	1	0	0	0	0	1	0	0	0	13544	991	35	5	595	5	RPE	2	210882238	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	307315	210882238	32317135	202	47028											
SPEG	10290	broad.mit.edu	37	chr2	220353375	220353375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcaccagctcctgtaccGtggctgtggcccgtgagcct	12	15	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:220353375G>A	uc010fwg.2	+	33	8014	c.8014G>A	c.(8014-8016)GTG>ATG	p.V2672M		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2672	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTCCTGTACCGTGGCTGTGGC	0.672													A	220353375	G	A	220353375	3	1	65	1	0	0	0	0	1	0	0	0	15035	1145	40	1	8156	1	SPEG	2	220353375	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	9471137	220353375	22845998	203	47029											
INHA	3623	broad.mit.edu	37	chr2	220439842	220439842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggggagagagcccgacGctcaactcccctgatgtcct	13	13	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:220439842G>A	uc002vmk.1	+	2	839	c.695G>A	c.(694-696)CGC>CAC	p.R232H		NM_002191	NP_002182	P05111	INHA_HUMAN	inhibin alpha subunit precursor	232		Cleavage.		RR->EA: Loss of cleavage.	cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGAGCCCGACGCTCAACTCCC	0.672													A	220439842	G	A	220439842	3	1	65	1	0	0	0	0	1	0	0	0	7740	1087	38	1	701	1	INHA	2	220439842	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	86467	220439842	22759531	204	47030											
SLC4A3	6508	broad.mit.edu	37	chr2	220494917	220494917	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcctcccgactcgctggggaGaaaagccggccctggagccc	14	16	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:220494917G>A	uc002vmp.3	+	6	923	c.654G>A	c.(652-654)GAG>GAA	p.E218E	SLC4A3_uc002vmn.2_Silent_p.E245E|SLC4A3_uc002vmo.3_Silent_p.E245E|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'Flank	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	218	Cytoplasmic.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGCTGGGGAGAAAAGCCGGC	0.692													A	220494917	G	A	220494917	2	1	65	1	0	0	0	0	0	0	0	1	14655	933	33	4		4	SLC4A3	2	220494917	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	55075	220494917	22704456	205	47031											
CUL3	8452	broad.mit.edu	37	chr2	225376167	225376167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgagttccctttcaaccaCctttacaattggttcttccg	5	12	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:225376167C>T	uc002vny.2	-	6	1171	c.787G>A	c.(787-789)GTG>ATG	p.V263M	CUL3_uc010zls.1_Missense_Mutation_p.V197M|CUL3_uc010fwy.1_Missense_Mutation_p.V269M	NM_003590	NP_003581	Q13618	CUL3_HUMAN	cullin 3	263					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTTTCAACCACCTTTACAATT	0.358													T	225376167	C	T	225376167	3	4	65	1	0	0	0	0	1	0	0	0	4056	507	18	4	1563	4	CUL3	2	225376167	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	4881250	225376167	17823206	206	47032											
SP110	3431	broad.mit.edu	37	chr2	231042288	231042288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagggtcattccttcacaaCgtatattccgtttccagttc	6	12	2	0	rs140285393	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:231042288C>T	uc002vqh.3	-	14	1796	c.1556G>A	c.(1555-1557)CGT>CAT	p.R519H	SP110_uc002vqg.3_Missense_Mutation_p.R519H|SP110_uc002vqi.3_Missense_Mutation_p.R519H|SP110_uc010fxk.2_Missense_Mutation_p.R517H|SP110_uc010fxj.2_Missense_Mutation_p.R162H	NM_004509	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform a	519	SAND.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TCCTTCACAACGTATATTCCG	0.423													T	231042288	C	T	231042288	3	4	65	1	0	0	0	0	1	0	0	0	14961	536	19	1	673	1	SP110	2	231042288	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	5666121	231042288	12157085	207	47033											
GIGYF2	26058	broad.mit.edu	37	chr2	233715062	233715062	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccaattttgaggctgtgCagagtggcaagaagaagaaa	12	5	0	5			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:233715062C>T	uc002vti.3	+	30	4112	c.3775C>T	c.(3775-3777)CAG>TAG	p.Q1259*	GIGYF2_uc002vtj.3_Nonsense_Mutation_p.Q1280*|GIGYF2_uc002vtk.3_Nonsense_Mutation_p.Q1259*|GIGYF2_uc002vth.3_Nonsense_Mutation_p.Q1253*|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc002vtq.3_Nonsense_Mutation_p.Q592*	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	1259					cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TGAGGCTGTGCAGAGTGGCAA	0.468													T	233715062	C	T	233715062	4	4	65	1	0	0	0	0	0	1	0	0	6378	711	25	2	3947	2	GIGYF2	2	233715062	Nonsense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2672774	233715062	9484311	208	47034											
ANKMY1	51281	broad.mit.edu	37	chr2	241463633	241463633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggtgtcctggaagtggcCgccctcgtggctgcctgaga	15	14	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:241463633C>T	uc002vyz.1	-	7	1463	c.1234G>A	c.(1234-1236)GGC>AGC	p.G412S	ANKMY1_uc002vza.1_Missense_Mutation_p.G271S|ANKMY1_uc010fzd.1_Missense_Mutation_p.G501S|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Missense_Mutation_p.G271S|ANKMY1_uc002vzd.1_Missense_Mutation_p.G271S|ANKMY1_uc010fze.1_Missense_Mutation_p.G81S|ANKMY1_uc002vze.2_Missense_Mutation_p.G173S	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	412							zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TGGAAGTGGCCGCCCTCGTGG	0.637													T	241463633	C	T	241463633	3	4	65	1	0	0	0	0	1	0	0	0	634	652	23	1	1635	1	ANKMY1	2	241463633	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	7748571	241463633	1735740	209	47035											
CAPN10	11132	broad.mit.edu	37	chr2	241536127	241536127	+	Frame_Shift_Del	DEL	C	C	-													ggcagtggccaagaacaccaCccccggggcagccctgcctg					rs7607759	by1000genomes	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:241536126_241536126AC>A	uc002vzk.2	+	8	1706	c.1510_1510AC>A	c.(1510-1512)accfs	p.T504fs	CAPN10_uc002vzp.2_Intron|CAPN10_uc002vzm.2_Intron|CAPN10_uc002vzl.2_Intron|CAPN10_uc002vzn.2_Frame_Shift_Del_p.T376fs|CAPN10_uc002vzo.2_Intron|CAPN10_uc010fzg.2_Intron|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	504			T -> A (in dbSNP:rs7607759).		actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		CAAGAACACCACCCCCGGGGC	0.672													-	241536127	C	-	241536127	7	5	65	1	0	1	0	1	0	0	0	0	2623	507	18	0	1545	0	CAPN10	2	241536127	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	72494	241536127	1663246	210	47036											
PASK	23178	broad.mit.edu	37	chr2	242066674	242066674	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccatcctcagctgggacTggagcttcagaatcttcgca	9	15	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:242066674T>C	uc002wao.1	-	10	1748	c.1656A>G	c.(1654-1656)CCA>CCG	p.P552P	PASK_uc010zol.1_Silent_p.P366P|PASK_uc010zom.1_Silent_p.P517P|PASK_uc010fzl.1_Silent_p.P552P|PASK_uc010zon.1_Silent_p.P333P|PASK_uc002wap.2_Silent_p.P95P|PASK_uc002waq.2_Silent_p.P552P	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	552					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CAGCTGGGACTGGAGCTTCAG	0.577													C	242066674	T	C	242066674	2	2	65	1	0	0	0	0	0	0	0	1	11472	1567	55	3		3	PASK	2	242066674	Silent	SNP	T	TCGA-BR-8081-01A-11D-2340-08	530547	242066674	1132699	211	47037											
GAL3ST2	64090	broad.mit.edu	37	chr2	242741267	242741267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagacgcacaagacggccaGcagcacggtgctcaacatcc	11	14	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:242741267G>A	uc002wcj.1	+	3	322	c.191G>A	c.(190-192)AGC>AAC	p.S64N		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	64	Lumenal (Potential).				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		AAGACGGCCAGCAGCACGGTG	0.667													A	242741267	G	A	242741267	3	1	65	1	0	0	0	0	1	0	0	0	6198	971	34	2	201	2	GAL3ST2	2	242741267	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	674593	242741267	458106	212	47038											
BRPF1	7862	broad.mit.edu	37	chr3	9781452	9781452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggttcagcacgccgactgCctgccctgtcccacagcgag	11	17	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:9781452C>T	uc003bse.2	+	3	1768	c.1369C>T	c.(1369-1371)CCT>TCT	p.P457S	BRPF1_uc003bsf.2_Missense_Mutation_p.P457S|BRPF1_uc003bsg.2_Missense_Mutation_p.P457S|BRPF1_uc011ati.1_Missense_Mutation_p.P457S	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	457					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					ACGCCGACTGCCTGCCCTGTC	0.507													T	9781452	C	T	9781452	3	4	65	1	0	0	0	0	1	0	0	0	1520	739	26	2	1375	2	BRPF1	3	9781452	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08		9781452	188240978	213	47039											
IL17RE	132014	broad.mit.edu	37	chr3	9950934	9950934	+	Frame_Shift_Del	DEL	A	A	-													aagaggacactgtgaggcgcAaaaaatgtcccttccagagc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:9950933_9950933CA>C	uc003btu.3	+	8	892	c.888_888CA>C	c.(886-888)cgcfs	p.R296fs	CIDEC_uc003bto.3_Intron|IL17RE_uc003btv.3_Frame_Shift_Del_p.R256fs|IL17RE_uc011atn.1_Intron|IL17RE_uc003bty.3_Non-coding_Transcript|IL17RE_uc003btx.3_Frame_Shift_Del_p.R140fs|IL17RE_uc010hcq.3_Frame_Shift_Del_p.R256fs|IL17RE_uc003btw.3_Frame_Shift_Del_p.R256fs	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	Homo sapiens interleukin 17 receptor E (IL17RE), transcript variant 5, mRNA.	256						cytoplasm|extracellular region|integral to membrane	receptor activity	p.C295C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CTGTGAGGCGCAAAAAATGTC	0.537													-	9950934	A	-	9950934	7	5	65	1	0	1	0	1	0	0	0	0	7643	131	5	0	799	0	IL17RE	3	9950934	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	169482	9950934	188071496	214	47040											
RAF1	5894	broad.mit.edu	37	chr3	12645699	12645699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggacattaggtgtggatgtcGacctctgcctctgggagagg	16	8	2	1	rs80338796		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:12645699G>A	uc003bxf.3	-	7	1185	c.770C>T	c.(769-771)TCG>TTG	p.S257L	RAF1_uc011aut.1_Missense_Mutation_p.S42L|RAF1_uc011auu.1_Missense_Mutation_p.S175L	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	257			S -> L (in NS5 and LEOPARD2; shows in vitro greater kinase activity and enhanced ERK activation than wild-type).		activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)	TGTGGATGTCGACCTCTGCCT	0.527			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome				A	12645699	G	A	12645699	3	1	65	1	0	0	0	0	1	0	0	0	13002	1059	37	1	1220	1	RAF1	3	12645699	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2694765	12645699	185376731	215	47041											
TMEM40	55287	broad.mit.edu	37	chr3	12790209	12790209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaagaggaggaggaGgaagaagacttgtttctctc	17	4	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:12790209G>A	uc003bxg.1	-	3	283	c.156C>T	c.(154-156)TCC>TCT	p.S52S	TMEM40_uc003bxh.1_Silent_p.S52S|TMEM40_uc003bxi.1_Intron|TMEM40_uc011auv.1_Silent_p.S68S	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	52	Ser-rich.					integral to membrane					0						aggaggaggaggaagaagaCT	0.259													A	12790209	G	A	12790209	2	1	65	1	0	0	0	0	0	0	0	1	16160	987	35	4		4	TMEM40	3	12790209	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	144510	12790209	185232221	216	47042											
COLQ	8292	broad.mit.edu	37	chr3	15516433	15516433	+	Splice_Site	DEL	T	T	-													atccaagaaaagcactaaccTtttcccctctggatccaggg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:15516432_15516432CT>C	uc003bzx.3	-	8	681	c.555_splice	c.e8+1	p.K185_splice	COLQ_uc003bzv.3_Splice_Site_p.K175_splice|COLQ_uc010heo.3_Splice_Site_p.K151_splice|COLQ_uc003cad.1_Splice_Site|COLQ_uc003cae.1_Splice_Site_p.K44_splice	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA.	185	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						AAGCACTAACCTTTTCCCCTC	0.478													-	15516433	T	-	15516433	8	5	65	1	0	1	0	1	0	0	1	0	3713	1623	56	0	853	0	COLQ	3	15516433	Splice_Site	DEL	T	TCGA-BR-8081-01A-11D-2340-08	2726224	15516433	182505997	217	47043											
EFHB	151651	broad.mit.edu	37	chr3	19975208	19975208	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcctggcaacagagaaggTtttgttccctgtgaagctga	11	9	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:19975208T>G	uc003cbl.3	-	1	499	c.303A>C	c.(301-303)AAA>AAC	p.K101N	EFHB_uc003cbm.2_Intron	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	101					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0						ACAGAGAAGGTTTTGTTCCCT	0.463													G	19975208	T	G	19975208	3	3	65	1	0	0	0	0	1	0	0	0	4945	1722	60	5	2250	5	EFHB	3	19975208	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	4458775	19975208	178047222	218	47044											
RBMS3	27303	broad.mit.edu	37	chr3	29925682	29925682	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttgacctatgaccccacAgctgccatacagaatgggta	9	12	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:29925682A>G	uc003cel.2	+	8	1004	c.774A>G	c.(772-774)ACA>ACG	p.T258T	RBMS3_uc003cek.2_Silent_p.T258T|RBMS3_uc010hfq.2_Silent_p.T271T|RBMS3_uc003cem.2_Silent_p.T257T|RBMS3_uc010hfr.2_Silent_p.T258T	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	258						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				ATGACCCCACAGCTGCCATAC	0.353													G	29925682	A	G	29925682	2	3	65	1	0	0	0	0	0	0	0	1	13150	175	7	3		3	RBMS3	3	29925682	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	9950474	29925682	168096748	219	47045											
TRANK1	9881	broad.mit.edu	37	chr3	36893222	36893223	+	Frame_Shift_Ins	INS	-	-	A													gacatacctcagaatcagtaINSaaaaagttgtaaaggaggac							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:36893221_36893222T>TA	uc003cgj.3	-	13	4991_4992	c.4743_4744A>TA	c.(4741-4746)tttactfs	p.F1581fs		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1581					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCAGAATCAGTAAAAAAGTTGT	0.376													A	36893223	-	A	36893222	7	5	65	1	0	1	1	0	0	0	0	0	16451	359	13	0	4074	0	TRANK1	3	36893222	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	6967540	36893222	161129208	220	47046											
SLC22A14	9389	broad.mit.edu	37	chr3	38357085	38357085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcaagtggccacgttgtcCggccacagagctgaaatcca	10	13	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:38357085C>T	uc010hhc.1	+	9	1457	c.1415C>T	c.(1414-1416)CCG>CTG	p.P472L	SLC22A14_uc003cib.2_Missense_Mutation_p.P472L|SLC22A14_uc011ayo.1_RNA	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	organic cation transporter like 4	472	Extracellular (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CCACGTTGTCCGGCCACAGAG	0.582													T	38357085	C	T	38357085	3	4	65	1	0	0	0	0	1	0	0	0	14445	652	23	1	1445	1	SLC22A14	3	38357085	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1463863	38357085	159665345	221	47047											
EXOSC7	23016	broad.mit.edu	37	chr3	45038709	45038709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaccctctgcattagtcctCgggagcactgctgggttctc	11	13	2	1	rs150001306		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:45038709C>T	uc003coi.2	+	4	414	c.385C>T	c.(385-387)CGG>TGG	p.R129W	EXOSC7_uc003coh.1_Missense_Mutation_p.R64W|EXOSC7_uc011bae.1_Missense_Mutation_p.R129W|EXOSC7_uc010his.1_Missense_Mutation_p.R48W|EXOSC7_uc003coj.2_Missense_Mutation_p.R129W	NM_015004	NP_055819	Q15024	EXOS7_HUMAN	exosome component 7	129					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		CATTAGTCCTCGGGAGCACTG	0.468													T	45038709	C	T	45038709	3	4	65	1	0	0	0	0	1	0	0	0	5319	875	31	1	399	1	EXOSC7	3	45038709	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	6681624	45038709	152983721	222	47048											
SACM1L	22908	broad.mit.edu	37	chr3	45780148	45780148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattataagaacaacttttcCgatggatttagacaagtaag	7	5	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:45780148C>T	uc003cos.2	+	17	1665	c.1461C>T	c.(1459-1461)TCC>TCT	p.S487S	SACM1L_uc011bag.1_Silent_p.S384S|SACM1L_uc011bah.1_Silent_p.S421S|SACM1L_uc003cot.2_Silent_p.S130S	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN	suppressor of actin 1	487						Golgi apparatus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		ACAACTTTTCCGATGGATTTA	0.343													T	45780148	C	T	45780148	2	4	65	1	0	0	0	0	0	0	0	1	13803	639	23	1		1	SACM1L	3	45780148	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	741439	45780148	152242282	223	47049											
CCR2	729230	broad.mit.edu	37	chr3	46399158	46399158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggcccaactcctgcctcCgctctactcgctggtgttca	10	16	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:46399158C>T	uc003cpn.3	+	2	625	c.140C>T	c.(139-141)CCG>CTG	p.P47L	CCR2_uc003cpm.3_Missense_Mutation_p.P47L	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2 isoform A	47	Helical; Name=1; (Potential).				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			lung(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CTCCTGCCTCCGCTCTACTCG	0.458													T	46399158	C	T	46399158	3	4	65	1	0	0	0	0	1	0	0	0	2941	652	23	1	142	1	CCR2	3	46399158	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	619010	46399158	151623272	224	47050											
CCR5	1234	broad.mit.edu	37	chr3	46415343	46415343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttccaaaagcacattgCcaaacgcttctgcaaatgct	5	13	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:46415343C>T	uc003cpo.3	+	3	1072	c.950C>T	c.(949-951)GCC>GTC	p.A317V	CCR5_uc010hjd.2_Missense_Mutation_p.A317V	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5	317	Cytoplasmic (Potential).				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	AAGCACATTGCCAAACGCTTC	0.493													T	46415343	C	T	46415343	3	4	65	1	0	0	0	0	1	0	0	0	2944	739	26	2	952	2	CCR5	3	46415343	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	16185	46415343	151607087	225	47051											
COL7A1	1294	broad.mit.edu	37	chr3	48621170	48621170	+	Frame_Shift_Del	DEL	G	G	-													ctttttctcctttctttccaGgggggccaacggggccttgg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:48621169_48621169AG>A	uc003ctz.2	-	38	4324	c.4323_4323CT>T	c.(4321-4323)cctfs	p.P1441fs		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1441	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.P1441S(2)|p.P1440P(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTTCTTTCCAGGGGGGCCAA	0.577													-	48621170	G	-	48621170	7	5	65	1	0	1	0	1	0	0	0	0	3704	1000	35	0	4832	0	COL7A1	3	48621170	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	2205827	48621170	149401260	226	47052											
COL7A1	1294	broad.mit.edu	37	chr3	48622168	48622168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttcccccttcacctaccGgctccccctttgggcctcga	6	22	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:48622168G>A	uc003ctz.2	-	34	4047	c.4046C>T	c.(4045-4047)CCG>CTG	p.P1349L		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1349	Triple-helical region.|Interrupted collagenous region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCACCTACCGGCTCCCCCTT	0.647													A	48622168	G	A	48622168	3	1	65	1	0	0	0	0	1	0	0	0	3704	1130	39	1	5128	1	COL7A1	3	48622168	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	998	48622168	149400262	227	47053											
CELSR3	1951	broad.mit.edu	37	chr3	48677486	48677486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtcccttgagagttgccGctggggagacaggggcagag	20	8	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:48677486G>A	uc003cul.2	-	34	9813	c.9532C>T	c.(9532-9534)CGG>TGG	p.R3178W	CELSR3_uc003cuf.1_Missense_Mutation_p.R3276W|CELSR3_uc010hkf.2_Missense_Mutation_p.R468W|CELSR3_uc010hkg.2_Missense_Mutation_p.R1161W	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	3178	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGAGTTGCCGCTGGGGAGAC	0.682													A	48677486	G	A	48677486	3	1	65	1	0	0	0	0	1	0	0	0	3223	1086	38	1	414	1	CELSR3	3	48677486	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	55318	48677486	149344944	228	47054											
DALRD3	55152	broad.mit.edu	37	chr3	49053239	49053239	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attttgctgtgtgctcacccCcaggatgtgtacccggttgt	11	11	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:49053239C>A	uc003cvk.1	-	11	1530	c.1510G>T	c.(1510-1512)GGG>TGG	p.G504W	WDR6_uc003cvj.2_3'UTR|WDR6_uc011bby.1_3'UTR|WDR6_uc010hkn.2_3'UTR|WDR6_uc011bbz.1_3'UTR|DALRD3_uc003cvl.1_Missense_Mutation_p.G495V|DALRD3_uc003cvm.1_Missense_Mutation_p.G337W|DALRD3_uc010hko.1_Intron	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	504					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTGCTCACCCCCAGGATGTGT	0.522													A	49053239	C	A	49053239	3	1	65	1	0	0	0	0	1	0	0	0	4229	623	22	5	129	5	DALRD3	3	49053239	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	375753	49053239	148969191	229	47055											
KLHDC8B	200942	broad.mit.edu	37	chr3	49212303	49212303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccatggctgaaggcagcGtctttagcctgggtggcctg	16	11	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:49212303G>A	uc003cwh.2	+	4	855	c.670G>A	c.(670-672)GTC>ATC	p.V224I	KLHDC8B_uc003cwi.1_Missense_Mutation_p.V97I	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	224	Kelch 6.					cytoplasm					0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAAGGCAGCGTCTTTAGCCT	0.592													A	49212303	G	A	49212303	3	1	65	1	0	0	0	0	1	0	0	0	8363	1145	40	1	680	1	KLHDC8B	3	49212303	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	159064	49212303	148810127	230	47056											
MST1R	4486	broad.mit.edu	37	chr3	49940022	49940022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatagtacttcctggccctCggcgatgctcagctcagtgg	11	12	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:49940022C>T	uc003cxy.3	-	1	1285	c.1021G>A	c.(1021-1023)GAG>AAG	p.E341K	MST1R_uc011bdd.1_Missense_Mutation_p.E341K|MST1R_uc011bde.1_Missense_Mutation_p.E341K|MST1R_uc011bdf.1_Missense_Mutation_p.E341K|MST1R_uc011bdg.1_Missense_Mutation_p.E341K	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	341	Extracellular (Potential).|Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TCCTGGCCCTCGGCGATGCTC	0.652													T	49940022	C	T	49940022	3	4	65	1	0	0	0	0	1	0	0	0	9891	893	31	1	3261	1	MST1R	3	49940022	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	727719	49940022	148082408	231	47057											
CACNA2D2	9254	broad.mit.edu	37	chr3	50402516	50402518	+	In_Frame_Del	DEL	CTT	CTT	-													ggcaggatacagtgcgtctcCttctgcagcagccggccagc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:50402515_50402517CCTT>C	uc003daq.3	-	36	3256_3258	c.3218_3220AAGG>G	c.(3217-3222)aaggag>aGag	p.1073_1074KE>R	CACNA2D2_uc003dap.3_In_Frame_Del_p.1066_1067KE>R	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	1073					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CAGTGCGTCTCCTTCTGCAGCAG	0.709													-	50402518	CTT	-	50402516	7	5	65	1	0	1	0	1	0	0	0	0	2549	680	24	0	251	0	CACNA2D2	3	50402516	In_Frame_Del	DEL	CTT	TCGA-BR-8081-01A-11D-2340-08	462494	50402516	147619914	232	47058											
RRP9	9136	broad.mit.edu	37	chr3	51968519	51968519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagagaaggtcaagctgcCggaagccttccccacactgc	10	15	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:51968519C>T	uc003dbw.1	-	13	1268	c.1229G>A	c.(1228-1230)CGG>CAG	p.R410Q		NM_004704	NP_004695	O43818	U3IP2_HUMAN	RNA, U3 small nucleolar interacting protein 2	410	WD 6.				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		GTCAAGCTGCCGGAAGCCTTC	0.622													T	51968519	C	T	51968519	3	4	65	1	0	0	0	0	1	0	0	0	13691	652	23	1	210	1	RRP9	3	51968519	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1566003	51968519	146053911	233	47059											
CACNA1D	776	broad.mit.edu	37	chr3	53531422	53531422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaacagccgacctgcccGcgcccttttctgtttatcac	7	17	2	0	rs144915770		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:53531422G>A	uc003dgv.3	+	2	474	c.311G>A	c.(310-312)CGC>CAC	p.R104H	CACNA1D_uc003dgu.3_Missense_Mutation_p.R104H|CACNA1D_uc003dgy.3_Missense_Mutation_p.R104H	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	104	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CGACCTGCCCGCGCCCTTTTC	0.478													A	53531422	G	A	53531422	3	1	65	1	0	0	0	0	1	0	0	0	2541	1087	38	1	317	1	CACNA1D	3	53531422	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1562903	53531422	144491008	234	47060											
CHDH	55349	broad.mit.edu	37	chr3	53854543	53854543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaccaatgcagaccttccGcaggggcttctgtgctgaat	11	12	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:53854543G>A	uc003dgz.2	-	6	1518	c.1078C>T	c.(1078-1080)CGG>TGG	p.R360W		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	choline dehydrogenase precursor	360					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			ovary(1)|central_nervous_system(1)	2		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CAGACCTTCCGCAGGGGCTTC	0.552													A	53854543	G	A	53854543	3	1	65	1	0	0	0	0	1	0	0	0	3333	1086	38	1	722	1	CHDH	3	53854543	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	323121	53854543	144167887	235	47061											
PDHB	5162	broad.mit.edu	37	chr3	58417706	58417706	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgatttatagcatcacgaacTgtcacctgtcacaggtatgc	8	10	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:58417706T>A	uc003dkf.3	-	3	131	c.102A>T	c.(100-102)ACA>ACT	p.T34T	PDHB_uc003dke.3_5'UTR|PDHB_uc003dkg.3_Silent_p.T16T|PDHB_uc010hnl.2_Silent_p.T16T|PDHB_uc011bff.1_Silent_p.T34T	NM_000925	NP_000916	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	34					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	NADH(DB00157)|Pyruvic acid(DB00119)	CATCACGAACTGTCACCTGTC	0.418													A	58417706	T	A	58417706	2	1	65	1	0	0	0	0	0	0	0	1	11666	1567	55	5		5	PDHB	3	58417706	Silent	SNP	T	TCGA-BR-8081-01A-11D-2340-08	4563163	58417706	139604724	236	47062											
FAM3D	131177	broad.mit.edu	37	chr3	58639469	58639469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgaataaacatccatgtcGtgactatggcaaagatgagg	10	7	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:58639469G>A	uc003dkq.2	-	3	350	c.53C>T	c.(52-54)ACG>ATG	p.T18M		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	18					negative regulation of insulin secretion	extracellular region	cytokine activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CATCCATGTCGTGACTATGGC	0.567													A	58639469	G	A	58639469	3	1	65	1	0	0	0	0	1	0	0	0	5559	1145	40	1	653	1	FAM3D	3	58639469	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	221763	58639469	139382961	237	47063											
ATXN7	6314	broad.mit.edu	37	chr3	63981492	63981492	+	Frame_Shift_Del	DEL	C	C	-													cctttcctcggttccttcctCccccatgtccaggaaacctc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:63981491_63981491TC>T	uc003dlv.3	+	11	2546	c.1993_1993TC>T	c.(1993-1995)tccfs	p.S665fs	ATXN7_uc003dlw.4_Frame_Shift_Del_p.S665fs|ATXN7_uc021wzy.1_Frame_Shift_Del_p.S665fs|ATXN7_uc011bfn.2_Frame_Shift_Del_p.S520fs	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	665	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GGTTCCTTCCTCCCCCATGTC	0.512													-	63981492	C	-	63981492	7	5	65	1	0	1	0	1	0	0	0	0	1215	855	30	0	2100	0	ATXN7	3	63981492	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	5342023	63981492	134040938	238	47064											
MAGI1	9223	broad.mit.edu	37	chr3	65342220	65342220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaccgctctctcctgcgctCgggggagcgtgcgcgcctcc	15	17	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:65342220C>T	uc003dmn.2	-	23	4748	c.4222G>A	c.(4222-4224)GAG>AAG	p.E1408K	MAGI1_uc003dmm.2_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	1437					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTCCTGCGCTCGGGGGAGCGT	0.667													T	65342220	C	T	65342220	3	4	65	1	0	0	0	0	1	0	0	0	9190	893	31	1	170	1	MAGI1	3	65342220	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1360728	65342220	132680210	239	47065											
NIT2	56954	broad.mit.edu	37	chr3	100065064	100065064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcatctgctacgacatgcGgtttgcagagcttgcacaaa	12	10	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:100065064G>A	uc003dtv.2	+	6	544	c.470G>A	c.(469-471)CGG>CAG	p.R157Q	NIT2_uc011bha.1_Missense_Mutation_p.G126S	NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	157	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			ovary(1)	1						TACGACATGCGGTTTGCAGAG	0.493													A	100065064	G	A	100065064	3	1	65	1	0	0	0	0	1	0	0	0	10434	1116	39	1	492	1	NIT2	3	100065064	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	34722844	100065064	97957366	240	47066											
KTELC1	56983	broad.mit.edu	37	chr3	119209485	119209485	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgttttccatgttggtgaTgagtggctagaattcttcta	10	6	2	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:119209485T>C	uc003ecm.2	+	9	969	c.885T>C	c.(883-885)GAT>GAC	p.D295D	KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Silent_p.D136D	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor	295						endoplasmic reticulum lumen	UDP-glucosyltransferase activity				0				GBM - Glioblastoma multiforme(114;0.233)		ATGTTGGTGATGAGTGGCTAG	0.443													C	119209485	T	C	119209485	2	2	65	1	0	0	0	0	0	0	0	1	8583	1461	51	3		3	KTELC1	3	119209485	Silent	SNP	T	TCGA-BR-8081-01A-11D-2340-08	19144421	119209485	78812945	241	47067											
ILDR1	286676	broad.mit.edu	37	chr3	121720675	121720675	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtaatacactccatggTcccaccacatcacttcattt	4	14	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:121720675T>C	uc003ees.2	-	4	522	c.416A>G	c.(415-417)GAC>GGC	p.D139G	ILDR1_uc003eeq.2_Missense_Mutation_p.D151G|ILDR1_uc003eer.2_Missense_Mutation_p.D139G|ILDR1_uc010hrg.2_Intron	NM_175924	NP_787120	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor	139	Extracellular (Potential).|Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			skin(1)	1				GBM - Glioblastoma multiforme(114;0.156)		CACTCCATGGTCCCACCACAT	0.502													C	121720675	T	C	121720675	3	2	65	1	0	0	0	0	1	0	0	0	7709	1667	58	3	1108	3	ILDR1	3	121720675	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	2511190	121720675	76301755	242	47068											
ADCY5	111	broad.mit.edu	37	chr3	123021992	123021992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgactccgccacgtgacaCgcgttgacctggctcgcgct	12	17	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:123021992C>T	uc003egh.1	-	14	2634	c.2634G>A	c.(2632-2634)GCG>GCA	p.A878A	ADCY5_uc003egg.1_Silent_p.A511A|ADCY5_uc003egi.1_Silent_p.A437A	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	878	Extracellular (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		CCACGTGACACGCGTTGACCT	0.642													T	123021992	C	T	123021992	2	4	65	1	0	0	0	0	0	0	0	1	297	523	19	1		1	ADCY5	3	123021992	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1301317	123021992	75000438	243	47069											
MYLK	4638	broad.mit.edu	37	chr3	123419658	123419658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctcctgctggcggatcGcctcctcagtgtgctgcctc	10	18	1	0	rs140989388		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:123419658G>A	uc003ego.2	-	18	2939	c.2657C>T	c.(2656-2658)GCG>GTG	p.A886V	MYLK_uc011bjw.1_Missense_Mutation_p.A886V|MYLK_uc003egp.2_Missense_Mutation_p.A817V|MYLK_uc003egq.2_Missense_Mutation_p.A886V|MYLK_uc003egr.2_Missense_Mutation_p.A817V|MYLK_uc003egs.2_Missense_Mutation_p.A710V|MYLK_uc003egt.2_Missense_Mutation_p.A77V	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	886	5 X 28 AA approximate tandem repeats.|1-1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTGGCGGATCGCCTCCTCAGT	0.622													A	123419658	G	A	123419658	3	1	65	1	0	0	0	0	1	0	0	0	10056	1087	38	1	3155	1	MYLK	3	123419658	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	397666	123419658	74602772	244	47070											
UROC1	131669	broad.mit.edu	37	chr3	126229603	126229603	+	Frame_Shift_Del	DEL	G	G	-													ccagcagctcctggacatccGgggggaagtagcgcagggcg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:126229602_126229602CG>C	uc010hsi.2	-	1	216	c.162_162CG>G	c.(160-162)ccgfs	p.P54fs	UROC1_uc003eiz.2_Frame_Shift_Del_p.P54fs	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	54					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCTGGACATCCGGGGGGAAGT	0.637													-	126229603	G	-	126229603	7	5	65	1	0	1	0	1	0	0	0	0	17025	1116	39	0	2129	0	UROC1	3	126229603	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	2809945	126229603	71792827	245	47071											
SEC61A1	29927	broad.mit.edu	37	chr3	127779411	127779411	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcaaaaaggatatggcCttggctctggtatttctctc	9	10	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:127779411C>A	uc003ekb.2	+	7	707	c.523C>A	c.(523-525)CTT>ATT	p.L175I	SEC61A1_uc003ekc.2_Missense_Mutation_p.L122I|SEC61A1_uc003ekd.2_Missense_Mutation_p.L55I	NM_013336	NP_037468	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit	175	Helical; (Potential).				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			ovary(1)	1						AGGATATGGCCTTGGCTCTGG	0.428													A	127779411	C	A	127779411	3	1	65	1	0	0	0	0	1	0	0	0	14000	681	24	5	549	5	SEC61A1	3	127779411	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1549808	127779411	70243019	246	47072											
CPNE4	131034	broad.mit.edu	37	chr3	131293941	131293941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggatttggcagccacccaTgatgtagtccaagaaagaat	10	9	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:131293941T>C	uc003eok.2	-	10	1336	c.901A>G	c.(901-903)ATG>GTG	p.M301V	CPNE4_uc011blq.1_Missense_Mutation_p.M319V|CPNE4_uc003eol.2_Missense_Mutation_p.M319V|CPNE4_uc003eom.2_Missense_Mutation_p.M301V	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	301										upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						CAGCCACCCATGATGTAGTCC	0.438													C	131293941	T	C	131293941	3	2	65	1	0	0	0	0	1	0	0	0	3814	1464	51	3	800	3	CPNE4	3	131293941	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	3514530	131293941	66728489	247	47073											
SLCO2A1	6578	broad.mit.edu	37	chr3	133661493	133661493	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgtgggagatgcaggctatCagggacacgaaggagatgag	17	5	1	3	rs145832999	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:133661493C>T	uc003eqa.3	-	11	1855	c.1581G>A	c.(1579-1581)CTG>CTA	p.L527L	SLCO2A1_uc003eqb.3_Silent_p.L451L|SLCO2A1_uc011blv.1_Silent_p.L346L	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	527	Helical; Name=10; (Potential).				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1						TGCAGGCTATCAGGGACACGA	0.602													T	133661493	C	T	133661493	2	4	65	1	0	0	0	0	0	0	0	1	14726	813	29	4		4	SLCO2A1	3	133661493	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2367552	133661493	64360937	248	47074											
GRK7	131890	broad.mit.edu	37	chr3	141497441	141497441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacccaccaaagacagcgcGctgcaggggctggtggccac	15	14	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:141497441G>A	uc011bnd.1	+	1	399	c.315G>A	c.(313-315)GCG>GCA	p.A105A		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	105	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						AAGACAGCGCGCTGCAGGGGC	0.667													A	141497441	G	A	141497441	2	1	65	1	0	0	0	0	0	0	0	1	6794	1074	38	1		1	GRK7	3	141497441	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	7835948	141497441	56524989	249	47075											
PLSCR4	57088	broad.mit.edu	37	chr3	145917640	145917640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagaagcaacagcaggtgCatctgaagggtctctgcatt	11	9	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:145917640C>T	uc010huy.2	-	6	913	c.584G>A	c.(583-585)TGC>TAC	p.C195Y	PLSCR4_uc010huz.2_Missense_Mutation_p.C195Y|PLSCR4_uc003evt.3_Missense_Mutation_p.C195Y|PLSCR4_uc010hva.2_Intron|PLSCR4_uc003evu.3_Intron	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4 isoform a	195	Cys-rich.|Cytoplasmic (By similarity).				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding				0						ACAGCAGGTGCATCTGAAGGG	0.507													T	145917640	C	T	145917640	3	4	65	1	0	0	0	0	1	0	0	0	12112	710	25	2	421	2	PLSCR4	3	145917640	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	4420199	145917640	52104790	250	47076											
ZIC1	7545	broad.mit.edu	37	chr3	147128485	147128485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctgcgccgcagctgcacGgctacgggcccatgaacgtg	14	14	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:147128485G>A	uc003ewe.2	+	1	1305	c.586G>A	c.(586-588)GGC>AGC	p.G196S		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	196					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GCAGCTGCACGGCTACGGGCC	0.652													A	147128485	G	A	147128485	3	1	65	1	0	0	0	0	1	0	0	0	17675	1116	39	1	588	1	ZIC1	3	147128485	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1210845	147128485	50893945	251	47077											
FAM194A	131831	broad.mit.edu	37	chr3	150398595	150398595	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttttgccttgagtctgtcGacctcactaccatgggctgc	9	13	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:150398595G>A	uc003eyg.2	-	8	1062	c.1005C>T	c.(1003-1005)GTC>GTT	p.V335V	FAM194A_uc003eyh.2_Silent_p.V189V	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	335										skin(2)|ovary(1)	3						TGAGTCTGTCGACCTCACTAC	0.413													A	150398595	G	A	150398595	2	1	65	1	0	0	0	0	0	0	0	1	5526	1045	37	1		1	FAM194A	3	150398595	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	3270110	150398595	47623835	252	47078											
IGSF10	285313	broad.mit.edu	37	chr3	151174864	151174864	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcagggattgtgtgaatgcCattgctgtgaagcatgagta	14	5	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:151174864C>A	uc011bod.1	-	2	274	c.274G>T	c.(274-276)GGC>TGC	p.G92C		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	92	LRR 2.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTGTGAATGCCATTGCTGTGA	0.453													A	151174864	C	A	151174864	3	1	65	1	0	0	0	0	1	0	0	0	7597	594	21	5	7665	5	IGSF10	3	151174864	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	776269	151174864	46847566	253	47079											
ARPM1	84517	broad.mit.edu	37	chr3	169485486	169485486	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagaaggaattcctcaggcCtgtatcacatttcattatgc	7	9	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:169485486C>A	uc003ffs.1	-	2	1228	c.853G>T	c.(853-855)GGC>TGC	p.G285C	TERC_uc003ffr.1_5'Flank	NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	actin related protein M1	285						cytoplasm|cytoskeleton					0	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TTCCTCAGGCCTGTATCACAT	0.458													A	169485486	C	A	169485486	3	1	65	1	0	0	0	0	1	0	0	0	976	681	24	5	269	5	ARPM1	3	169485486	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	18310622	169485486	28536944	254	47080											
PLD1	5337	broad.mit.edu	37	chr3	171392296	171392296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaacttacttacctgtacGttagcatggacagacccagg	9	11	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:171392296G>A	uc003fhs.2	-	19	2339	c.2223C>T	c.(2221-2223)AAC>AAT	p.N741N	PLD1_uc003fht.2_Silent_p.N703N|PLD1_uc003fhu.3_Silent_p.N35N|PLD1_uc003fhv.1_Silent_p.N66N	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	741	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTACCTGTACGTTAGCATGGA	0.388													A	171392296	G	A	171392296	2	1	65	1	0	0	0	0	0	0	0	1	12045	1136	40	1		1	PLD1	3	171392296	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1906810	171392296	26630134	255	47081											
PIK3CA	5290	broad.mit.edu	37	chr3	178952084	178952084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaacaaatgaatgatgcaCatcatggtggctggacaaca	10	7	1	3	rs121913281		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:178952084C>T	uc003fjk.2	+	21	3296	c.3139C>T	c.(3139-3141)CAT>TAT	p.H1047Y		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1247)|p.H1047L(145)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAATGATGCACATCATGGTGG	0.373	H1047Y(MFE280_ENDOMETRIUM)|H1047Y(TOV21G_OVARY)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			T	178952084	C	T	178952084	3	4	65	1	0	0	0	0	1	0	0	0	11913	478	17	4	3217	4	PIK3CA	3	178952084	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	7559788	178952084	19070346	256	47082											
FAM131A	131408	broad.mit.edu	37	chr3	184059734	184059734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgctcaggtgaatctcaGccccttctcccacccaaagg	7	17	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:184059734G>A	uc003fog.2	+	1	1477	c.113G>A	c.(112-114)AGC>AAC	p.S38N	FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Intron|FAM131A_uc003foe.2_Intron	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	38						extracellular region				breast(1)	1	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGAATCTCAGCCCCTTCTCC	0.547													A	184059734	G	A	184059734	3	1	65	1	0	0	0	0	1	0	0	0	5439	986	34	2		2	FAM131A	3	184059734	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	5107650	184059734	13962696	257	47083											
ETV5	2119	broad.mit.edu	37	chr3	185769835	185769835	+	Frame_Shift_Del	DEL	T	T	-													tcaccttctgcatgatgcccTtttcatagtaatagcggaga							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:185769834_185769834CT>C	uc003fpy.3	-	11	1487	c.1422_1422AG>G	c.(1420-1422)aagfs	p.K474fs	ETV5_uc003fpz.3_Frame_Shift_Del_p.K432fs	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	432					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.C473C(1)		breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GCATGATGCCCTTTTCATAGT	0.512			T	"TMPRSS2, SCL45A3"	Prostate								-	185769835	T	-	185769835	7	5	65	1	0	1	0	1	0	0	0	0	5282	1609	56	0	245	0	ETV5	3	185769835	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	1710101	185769835	12252595	258	47084											
HRG	3273	broad.mit.edu	37	chr3	186390618	186390618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcgtggacttctctgtgCggaactgccccagacaccat	9	14	1	1	rs140916341		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:186390618C>T	uc003fqq.2	+	5	624	c.601C>T	c.(601-603)CGG>TGG	p.R201W		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	201	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CTTCTCTGTGCGGAACTGCCC	0.403													T	186390618	C	T	186390618	3	4	65	1	0	0	0	0	1	0	0	0	7354	759	27	1	619	1	HRG	3	186390618	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	620783	186390618	11631812	259	47085											
BCL6	604	broad.mit.edu	37	chr3	187444578	187444578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggaaggaggcctggcagCggtcacacttgtagggtttg	17	8	1	0	rs147650939		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:187444578C>T	uc003frp.3	-	7	2106	c.1649G>A	c.(1648-1650)CGC>CAC	p.R550H	BCL6_uc011bsf.1_Intron|BCL6_uc010hza.2_Missense_Mutation_p.R448H|BCL6_uc003frq.1_Missense_Mutation_p.R550H	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	550	C2H2-type 2.				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GGCCTGGCAGCGGTCACACTT	0.587			T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL								T	187444578	C	T	187444578	3	4	65	1	0	0	0	0	1	0	0	0	1376	768	27	1	487	1	BCL6	3	187444578	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1053960	187444578	10577852	260	47086											
TFRC	7037	broad.mit.edu	37	chr3	195782167	195782168	+	Frame_Shift_Del	DEL	TG	TG	-													gtacccaaataaggataatcTgtgtcctgcaagacaacgcg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:195782167_195782168delTG	uc003fvz.3	-	17	1965_1966	c.1682_1683delCA	c.(1681-1683)ACAfs	p.T561fs	TFRC_uc003fwa.3_Frame_Shift_Del_p.T561fs|TFRC_uc010hzy.2_Frame_Shift_Del_p.T480fs|TFRC_uc011btr.1_Frame_Shift_Del_p.T279fs	NM_003234	NP_003225	P02786	TFR1_HUMAN	transferrin receptor	561	Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			ovary(3)	3	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		AAGGATAATCTGTGTCCTGCAA	0.5			T	BCL6	NHL								-	195782168	TG	-	195782167	7	5	65	1	0	1	0	1	0	0	0	0	15809	1567	55	0	611	0	TFRC	3	195782167	Frame_Shift_Del	DEL	TG	TCGA-BR-8081-01A-11D-2340-08	8337589	195782167	2240263	261	47087											
TFRC	7037	broad.mit.edu	37	chr3	195796404	195796404	+	Frame_Shift_Del	DEL	T	T	-													gtgtataaatcctcaaaatcTtttttagtaccaaaattagc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:195796403_195796403CT>C	uc003fvz.4	-	6	1007	c.724_724AG>G	c.(724-726)gatfs	p.D242fs	TFRC_uc003fwa.4_Frame_Shift_Del_p.D242fs|TFRC_uc010hzy.3_Frame_Shift_Del_p.D161fs|TFRC_uc011btr.2_5'UTR	NM_003234	NP_003225	P02786	TFR1_HUMAN	Homo sapiens transferrin receptor (p90, CD71) (TFRC), transcript variant 1, mRNA.	242	PA.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TCCTCAAAATCTTTTTTAGTA	0.343			T	BCL6	NHL								-	195796404	T	-	195796404	7	5	65	1	0	1	0	1	0	0	0	0	15809	1606	56	0	1611	0	TFRC	3	195796404	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	14237	195796404	2226026	262	47088											
TCTEX1D2	255758	broad.mit.edu	37	chr3	196043062	196043062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttgccagttcctccttgaGcacagcatggatacagtctt	8	11	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:196043062G>A	uc003fwi.2	-	2	290	c.154C>T	c.(154-156)CTC>TTC	p.L52F	TM4SF19_uc003fwj.2_RNA|uc003fwk.1_5'Flank	NM_152773	NP_689986	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	52							protein binding			ovary(1)|breast(1)	2	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TCCTCCTTGAGCACAGCATGG	0.403													A	196043062	G	A	196043062	3	1	65	1	0	0	0	0	1	0	0	0	15717	971	34	2	290	2	TCTEX1D2	3	196043062	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	246658	196043062	1979368	263	47089											
DGKQ	1609	broad.mit.edu	37	chr4	959075	959075	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcaacgtccaacactacCgcgcctgcggcaggagccca	11	17	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:959075C>T	uc003gbw.2	-	15	1697	c.1623G>A	c.(1621-1623)GCG>GCA	p.A541A	DGKQ_uc010ibn.2_Silent_p.A528A	NM_001347	NP_001338	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta	541					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCAACACTACCGCGCCTGCGG	0.682													T	959075	C	T	959075	2	4	65	1	0	0	0	0	0	0	0	1	4473	639	23	1		1	DGKQ	4	959075	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08		959075	190195201	264	47090											
NOP14	8602	broad.mit.edu	37	chr4	2941000	2941001	+	Frame_Shift_Del	DEL	TG	TG	-													ggcccctttaaattcacgctTgtgtttgtggatcagcctct							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:2940999_2941000TTG>T	uc003ggj.1	-	16	2461_2462	c.2389_2390CAA>A	c.(2389-2391)aagfs	p.K797fs	NOP14-AS1_uc003ggd.1_Intron|NOP14-AS1_uc003gge.1_Intron|NOP14-AS1_uc003ggg.1_Intron|NOP14-AS1_uc003ggh.3_Intron|NOP14-AS1_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc021xkt.1_5'Flank|NOP14_uc003ggl.3_Frame_Shift_Del_p.K797fs	NM_003703	NP_003694	P78316	NOP14_HUMAN	Homo sapiens NOP14 nucleolar protein homolog (yeast) (NOP14), mRNA.	797					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)	Noc4p-Nop14p complex|mitochondrion|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						AAATTCACGCTTGTGTTTGTGG	0.495													-	2941001	TG	-	2941000	7	5	65	1	0	1	0	1	0	0	0	0	10536	1821	63	0	192	0	NOP14	4	2941000	Frame_Shift_Del	DEL	TG	TCGA-BR-8081-01A-11D-2340-08	1981925	2941000	188213276	265	47091											
EVC2	132884	broad.mit.edu	37	chr4	5578094	5578094	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcccatcggccacccactGctgccagctcgccagggcct	12	19	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:5578094G>A	uc003gij.2	-	18	3199	c.3145C>T	c.(3145-3147)CAG>TAG	p.Q1049*	EVC2_uc011bwb.1_Nonsense_Mutation_p.Q489*|EVC2_uc003gik.2_Nonsense_Mutation_p.Q969*	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1049	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5						GCCACCCACTGCTGCCAGCTC	0.627													A	5578094	G	A	5578094	4	1	65	1	0	0	0	0	0	1	0	0	5286	1328	46	2	801	2	EVC2	4	5578094	Nonsense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2637094	5578094	185576182	266	47092											
WFS1	7466	broad.mit.edu	37	chr4	6302887	6302887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccatgcagagccctacacGcgcagggccctggccaccga	11	18	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:6302887G>A	uc003giy.2	+	8	1531	c.1365G>A	c.(1363-1365)ACG>ACA	p.T455T	WFS1_uc003gix.2_Silent_p.T455T|WFS1_uc003giz.2_Silent_p.T273T	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	455					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)		AGCCCTACACGCGCAGGGCCC	0.637													A	6302887	G	A	6302887	2	1	65	1	0	0	0	0	0	0	0	1	17357	1074	38	1		1	WFS1	4	6302887	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	724793	6302887	184851389	267	47093											
PPP2R2C	5522	broad.mit.edu	37	chr4	6325119	6325119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcagccgggtgccaggcCgtgtgcaggatcttcttggt	14	11	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:6325119C>T	uc003gjc.2	-	9	1624	c.1254G>A	c.(1252-1254)ACG>ACA	p.T418T	PPP2R2C_uc003gjb.2_Silent_p.T401T|PPP2R2C_uc011bwd.1_Silent_p.T411T|PPP2R2C_uc011bwe.1_Silent_p.T411T|PPP2R2C_uc003gja.2_Silent_p.T418T	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	418	WD 7.				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						GGTGCCAGGCCGTGTGCAGGA	0.587													T	6325119	C	T	6325119	2	4	65	1	0	0	0	0	0	0	0	1	12386	639	23	1		1	PPP2R2C	4	6325119	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	22232	6325119	184829157	268	47094											
KIAA0232	9778	broad.mit.edu	37	chr4	6843887	6843888	+	Frame_Shift_Ins	INS	-	-	A													tctaactctagaagaaatgaINSaaaaacaggctgctgtccag							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:6843886_6843887G>GA	uc003gjr.4	+	3	787_788	c.324_325G>GA	c.(322-327)atgaaafs	p.M108fs	KIAA0232_uc003gjq.4_Frame_Shift_Ins_p.M108fs	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	108							ATP binding	p.K109E(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TAGAAGAAATGAAAAAACAGGC	0.371													A	6843888	-	A	6843887	7	5	65	1	0	1	1	0	0	0	0	0	8163	247	9	0	331	0	KIAA0232	4	6843887	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	518768	6843887	184310389	269	47095											
ZNF518B	85460	broad.mit.edu	37	chr4	10447064	10447064	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacttcatttggctcagacaGggtcattttatttggaatac	9	7	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:10447064G>T	uc003gmn.2	-	3	1376	c.889C>A	c.(889-891)CTG>ATG	p.L297M		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4						GGCTCAGACAGGGTCATTTTA	0.373													T	10447064	G	T	10447064	3	4	65	1	0	0	0	0	1	0	0	0	17960	991	35	5	2339	5	ZNF518B	4	10447064	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	3603177	10447064	180707212	270	47096											
ZNF518B	85460	broad.mit.edu	37	chr4	10447911	10447911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaggaattatgtccgccGttcaagtgtgtagtgtatag	12	6	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:10447911G>A	uc003gmn.2	-	3	529	c.42C>T	c.(40-42)AAC>AAT	p.N14N		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4						TATGTCCGCCGTTCAAGTGTG	0.403													A	10447911	G	A	10447911	2	1	65	1	0	0	0	0	0	0	0	1	17960	1136	40	1		1	ZNF518B	4	10447911	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	847	10447911	180706365	271	47097											
PROM1	8842	broad.mit.edu	37	chr4	15995680	15995681	+	Frame_Shift_Ins	INS	-	-	T													agtgccgtaagtgcctctatINStttttttgcagtcactgtgg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:15995679_15995680A>AT	uc003goo.2	-	14	1909_1910	c.1697_1698T>AT	c.(1696-1698)aatfs	p.N566fs	PROM1_uc003gor.2_Frame_Shift_Ins_p.N566fs|PROM1_uc003gos.2_Frame_Shift_Ins_p.N557fs|PROM1_uc003got.2_Frame_Shift_Ins_p.N566fs|PROM1_uc003gou.2_Frame_Shift_Ins_p.N557fs|PROM1_uc003gop.2_Frame_Shift_Ins_p.N557fs|PROM1_uc003goq.3_Frame_Shift_Ins_p.N557fs	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	566					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	p.N565N(4)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AAGTGCCTCTATTTTTTTTGCA	0.426													T	15995681	-	T	15995680	7	5	65	1	0	1	1	0	0	0	0	0	12555	1493	52	0	948	0	PROM1	4	15995680	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	5547769	15995680	175158596	272	47098											
GPR125	166647	broad.mit.edu	37	chr4	22390560	22390560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaaggagggttcccatgCcatccagcaactggaaaaga	10	12	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:22390560C>T	uc003gqm.1	-	19	2999	c.2734G>A	c.(2734-2736)GCA>ACA	p.A912T	GPR125_uc010ieo.1_Missense_Mutation_p.A768T|GPR125_uc003gql.1_Missense_Mutation_p.A39T	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	912	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				GGTTCCCATGCCATCCAGCAA	0.403													T	22390560	C	T	22390560	3	4	65	1	0	0	0	0	1	0	0	0	6639	739	26	2	1235	2	GPR125	4	22390560	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	6394880	22390560	168763716	273	47099											
TLR10	81793	broad.mit.edu	37	chr4	38777063	38777063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggataaatccagtgtcgttGtggctggggtcaagtctgcg	15	7	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:38777063G>A	uc003gti.2	-	2	528	c.149C>T	c.(148-150)ACA>ATA	p.T50I	TLR10_uc003gtj.2_Missense_Mutation_p.T50I|TLR10_uc003gtk.2_Missense_Mutation_p.T50I	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	50	Extracellular (Potential).|LRR 2.				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2						CAGTGTCGTTGTGGCTGGGGT	0.458													A	38777063	G	A	38777063	3	1	65	1	0	0	0	0	1	0	0	0	15947	1377	48	4	2290	4	TLR10	4	38777063	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	16386503	38777063	152377213	274	47100											
LRRC66	339977	broad.mit.edu	37	chr4	52861526	52861526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccagctacagaagagacGcccactgaatgtgcactgag	12	11	0	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:52861526G>A	uc003gzi.2	-	4	1675	c.1662C>T	c.(1660-1662)GGC>GGT	p.G554G		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	554						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						CAGAAGAGACGCCCACTGAAT	0.512													A	52861526	G	A	52861526	2	1	65	1	0	0	0	0	0	0	0	1	9018	1074	38	1		1	LRRC66	4	52861526	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	14084463	52861526	138292750	275	47101											
KDR	3791	broad.mit.edu	37	chr4	55964877	55964877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttacccgcttaacggtcCgtaggatgatgacaagaagt	10	8	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:55964877C>T	uc003has.2	-	16	2662	c.2360G>A	c.(2359-2361)CGG>CAG	p.R787Q	KDR_uc003hat.1_Missense_Mutation_p.R787Q	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	787	Helical; (Potential).			R -> G (in Ref. 4; AAA59459/CAA43837).	angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTTAACGGTCCGTAGGATGAT	0.433			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			T	55964877	C	T	55964877	3	4	65	1	0	0	0	0	1	0	0	0	8139	652	23	1	1770	1	KDR	4	55964877	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	3103351	55964877	135189399	276	47102											
YTHDC1	91746	broad.mit.edu	37	chr4	69184427	69184427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccatttaaaaacacatctCggcgaactcctgaaaatcgt	5	13	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:69184427C>T	uc003hdx.2	-	14	2095	c.1742G>A	c.(1741-1743)CGA>CAA	p.R581Q	YTHDC1_uc003hdy.2_Missense_Mutation_p.R563Q	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	581	Arg-rich.									upper_aerodigestive_tract(1)|ovary(1)	2						AAACACATCTCGGCGAACTCC	0.308													T	69184427	C	T	69184427	3	4	65	1	0	0	0	0	1	0	0	0	17493	884	31	1	457	1	YTHDC1	4	69184427	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	13219550	69184427	121969849	277	47103											
SULT1B1	27284	broad.mit.edu	37	chr4	70599153	70599153	+	Frame_Shift_Del	DEL	A	A	-													ctttcatatcttcatagtacAaaaaaagtattgggtgttct							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:70599152_70599152CA>C	uc003hen.3	-	5	874	c.576_576TG>G	c.(574-576)ttgfs	p.L192fs		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	192					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CTTCATAGTACAAAAAAAGTA	0.348													-	70599153	A	-	70599153	7	5	65	1	0	1	0	1	0	0	0	0	15373	131	5	0	327	0	SULT1B1	4	70599153	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	1414726	70599153	120555123	278	47104											
PPBP	5473	broad.mit.edu	37	chr4	74853698	74853698	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttcgccaagtttctcttAgtttgtcctttggtggagga	10	9	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:74853698A>G	uc003hhj.2	-	1	203	c.123T>C	c.(121-123)ACT>ACC	p.T41T		NM_002704	NP_002695	P02775	CXCL7_HUMAN	pro-platelet basic protein precursor	41					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			AGTTTCTCTTAGTTTGTCCTT	0.532													G	74853698	A	G	74853698	2	3	65	1	0	0	0	0	0	0	0	1	12303	407	15	3		3	PPBP	4	74853698	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	4254545	74853698	116300578	279	47105											
PTPN13	5783	broad.mit.edu	37	chr4	87622904	87622904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtgctttggaccgaatccGagagagacaaaagaaacttc	10	8	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:87622904G>A	uc003hpz.2	+	7	1625	c.1145G>A	c.(1144-1146)CGA>CAA	p.R382Q	PTPN13_uc003hpy.2_Missense_Mutation_p.R382Q|PTPN13_uc003hqa.2_Missense_Mutation_p.R382Q|PTPN13_uc003hqb.2_Missense_Mutation_p.R382Q	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	382						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GACCGAATCCGAGAGAGACAA	0.393													A	87622904	G	A	87622904	3	1	65	1	0	0	0	0	1	0	0	0	12782	1058	37	1	1167	1	PTPN13	4	87622904	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	12769206	87622904	103531372	280	47106											
ADH1A	124	broad.mit.edu	37	chr4	100205900	100205900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagcagtagttgctctccGggtttttacaaattctgcat	8	9	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:100205900G>A	uc003hur.1	-	4	391	c.320C>T	c.(319-321)CCG>CTG	p.P107L	uc003hum.1_Intron|ADH1A_uc011ceg.1_Missense_Mutation_p.P107L|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.1_Missense_Mutation_p.P107L	NM_000667	NP_000658	P07327	ADH1A_HUMAN	class I alcohol dehydrogenase, alpha subunit	107					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	GTTGCTCTCCGGGTTTTTACA	0.418													A	100205900	G	A	100205900	3	1	65	1	0	0	0	0	1	0	0	0	307	1116	39	1	831	1	ADH1A	4	100205900	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	12582996	100205900	90948376	281	47107											
TACR3	6870	broad.mit.edu	37	chr4	104640560	104640560	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgccaccaccacaccataCgccagggaccagagcgcgat	9	17	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:104640560C>T	uc003hxe.1	-	1	416	c.273G>A	c.(271-273)GCG>GCA	p.A91A		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	91	Helical; Name=1; (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CCACACCATACGCCAGGGACC	0.617													T	104640560	C	T	104640560	2	4	65	1	0	0	0	0	0	0	0	1	15504	523	19	1		1	TACR3	4	104640560	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	4434660	104640560	86513716	282	47108											
ALPK1	80216	broad.mit.edu	37	chr4	113356416	113356416	+	Frame_Shift_Del	DEL	T	T	-													aaaggcagacaaagaaatgcTttttgggttcatcatcttca							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:113356415_113356415CT>C	uc003ian.4	+	11	3373	c.3146_3146CT>C	c.(3145-3147)gctfs	p.A1049fs	ALPK1_uc003iap.4_Frame_Shift_Del_p.A1049fs|ALPK1_uc011cfx.2_Frame_Shift_Del_p.A971fs|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_Frame_Shift_Del_p.A877fs	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	1049	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAAAGAAATGCTTTTTGGGTT	0.353													-	113356416	T	-	113356416	7	5	65	1	0	1	0	1	0	0	0	0	544	1596	56	0	3185	0	ALPK1	4	113356416	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	8715856	113356416	77797860	283	47109											
ANK2	287	broad.mit.edu	37	chr4	114277438	114277438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggttacacccaaaaccaCagatgtaagtacaccaaaac	6	11	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:114277438C>T	uc003ibe.3	+	38	7764	c.7664C>T	c.(7663-7665)ACA>ATA	p.T2555I	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.T2570I	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2522					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)		CCCAAAACCACAGATGTAAGT	0.493													T	114277438	C	T	114277438	3	4	65	1	0	0	0	0	1	0	0	0	621	478	17	4	7879	4	ANK2	4	114277438	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	921022	114277438	76876838	284	47110											
FAT4	79633	broad.mit.edu	37	chr4	126373367	126373367	+	Frame_Shift_Del	DEL	T	T	-													ttgaccaaccactatcttcaTtttttacgcattgccagctc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:126373366_126373366AT>A	uc003ifj.4	+	8	11195	c.11195_11195AT>A	c.(11194-11196)catfs	p.H3732fs	FAT4_uc011cgp.2_Frame_Shift_Del_p.H2030fs|FAT4_uc003ifi.1_Frame_Shift_Del_p.H1210fs	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3732					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CACTATCTTCATTTTTTACGC	0.443													-	126373367	T	-	126373367	7	5	65	1	0	1	0	1	0	0	0	0	5692	1490	52	0	11230	0	FAT4	4	126373367	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	12095929	126373367	64780909	285	47111											
HSPA4L	22824	broad.mit.edu	37	chr4	128724950	128724950	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaactaaagaagctaaTgagtgcaaatgcatcagatc	8	6	1	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:128724950T>C	uc003ifm.2	+	7	1083	c.830T>C	c.(829-831)ATG>ACG	p.M277T	HSPA4L_uc010iny.1_Missense_Mutation_p.M236T|HSPA4L_uc011cgr.1_Missense_Mutation_p.M244T	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	277					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						AAGAAGCTAATGAGTGCAAAT	0.343													C	128724950	T	C	128724950	3	2	65	1	0	0	0	0	1	0	0	0	7413	1464	51	3	856	3	HSPA4L	4	128724950	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	2351583	128724950	62429326	286	47112											
PLK4	10733	broad.mit.edu	37	chr4	128814507	128814507	+	Frame_Shift_Del	DEL	A	A	-													acagggaagtcttacactttAaaaagtgaaagtgaagttaa							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:128814506_128814506TA>T	uc003ifo.3	+	10	2529	c.2255_2255TA>T	c.(2254-2256)ttafs	p.L752fs	PLK4_uc011cgs.2_Frame_Shift_Del_p.L720fs|PLK4_uc011cgt.2_Frame_Shift_Del_p.L711fs	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	752					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TCTTACACTTTAAAAAGTGAA	0.303													-	128814507	A	-	128814507	7	5	65	1	0	1	0	1	0	0	0	0	12098	359	13	0	2298	0	PLK4	4	128814507	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	89557	128814507	62339769	287	47113											
PCDH10	57575	broad.mit.edu	37	chr4	134084187	134084187	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaagctctgggccactcagaTcggtgctggatgccttcttt	11	11	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:134084187T>A	uc003iha.2	+	4	3679	c.2853T>A	c.(2851-2853)GAT>GAA	p.D951E		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	951	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GCCACTCAGATCGGTGCTGGA	0.488													A	134084187	T	A	134084187	3	1	65	1	0	0	0	0	1	0	0	0	11507	1432	50	5	2927	5	PCDH10	4	134084187	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	5269680	134084187	57070089	288	47114											
PCDH18	54510	broad.mit.edu	37	chr4	138450912	138450912	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggagatgaagatggagaCgatctgtgatgagatctgat	15	3	2	7	rs140521915		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:138450912C>T	uc003ihe.3	-	1	2718	c.2331G>A	c.(2329-2331)TCG>TCA	p.S777S	PCDH18_uc003ihf.3_Silent_p.S770S|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Silent_p.S557S|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	777	Cytoplasmic (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					AAGATGGAGACGATCTGTGAT	0.502													T	138450912	C	T	138450912	2	4	65	1	0	0	0	0	0	0	0	1	11513	523	19	1		1	PCDH18	4	138450912	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	4366725	138450912	52703364	289	47115											
INPP4B	8821	broad.mit.edu	37	chr4	143007332	143007332	+	Frame_Shift_Del	DEL	T	T	-													cataatttctacattctttcTttttttggattggatatttt							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:143007331_143007331CT>C	uc003iix.4	-	24	3048	c.2453_2453AG>G	c.(2452-2454)agafs	p.R818fs	INPP4B_uc003iiw.4_Frame_Shift_Del_p.R818fs|INPP4B_uc011chm.2_Non-coding_Transcript|INPP4B_uc011chn.1_Frame_Shift_Del_p.R633fs|INPP4B_uc011cho.1_Non-coding_Transcript	NM_003866	NP_003857	O15327	INP4B_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type II, 105kDa (INPP4B), transcript variant 1, mRNA.	818					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TACATTCTTTCTTTTTTTGGA	0.338													-	143007332	T	-	143007332	7	5	65	1	0	1	0	1	0	0	0	0	7753	1617	56	0	334	0	INPP4B	4	143007332	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	4556420	143007332	48146944	290	47116											
SMARCA5	8467	broad.mit.edu	37	chr4	144442710	144442710	+	Frame_Shift_Del	DEL	A	A	-													aaaccagggcgcccacgaatAaaaaaagatgagaagcagaa							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:144442709_144442709TA>T	uc003ijg.3	+	2	842	c.380_380TA>T	c.(379-381)atafs	p.I127fs		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	127					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	p.R126Q(1)	EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CGCCCACGAATAAAAAAAGAT	0.378													-	144442710	A	-	144442710	7	5	65	1	0	1	0	1	0	0	0	0	14771	352	13	0	391	0	SMARCA5	4	144442710	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	1435378	144442710	46711566	291	47117											
ABCE1	6059	broad.mit.edu	37	chr4	146044706	146044706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctatctagcggatcgcGtcatcgtttttgatggtgtt	10	10	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:146044706G>A	uc003ijx.2	+	16	2034	c.1594G>A	c.(1594-1596)GTC>ATC	p.V532I	ABCE1_uc003ijy.2_Missense_Mutation_p.V532I|ABCE1_uc010iot.2_RNA	NM_001040876	NP_001035809	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E, member 1	532	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			skin(1)	1	all_hematologic(180;0.151)					AGCGGATCGCGTCATCGTTTT	0.338													A	146044706	G	A	146044706	3	1	65	1	0	0	0	0	1	0	0	0	64	1145	40	1	1652	1	ABCE1	4	146044706	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1601996	146044706	45109570	292	47118											
OTUD4	54726	broad.mit.edu	37	chr4	146058622	146058624	+	In_Frame_Del	DEL	CTC	CTC	-													ggccatctcccatccctgatCtcctcctatctcccctaaat							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:146058621_146058623TCTC>T	uc003ika.4	-	20	3247_3249	c.3109_3111GAGA>A	c.(3109-3111)aga>A	p.R1037del		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	1101							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATCCCTGATCTCCTCCTATCT	0.478													-	146058624	CTC	-	146058622	7	5	65	1	0	1	0	1	0	0	0	0	11314	913	32	0	43	0	OTUD4	4	146058622	In_Frame_Del	DEL	CTC	TCGA-BR-8081-01A-11D-2340-08	13916	146058622	45095654	293	47119											
EDNRA	1909	broad.mit.edu	37	chr4	148441069	148441069	+	Frame_Shift_Del	DEL	T	T	-													ttctttgcaagctgttccccTttttgcagaagtcctcggtg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:148441068_148441068CT>C	uc003iky.3	+	2	1016	c.486_486CT>C	c.(484-486)cccfs	p.P162fs	EDNRA_uc011cid.2_5'UTR|EDNRA_uc010ipg.2_Intron|EDNRA_uc010ipe.1_Intron|EDNRA_uc010ipf.1_Non-coding_Transcript	NM_001957	NP_001948	P25101	EDNRA_HUMAN	Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA.	162					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity	p.P162P(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	AGCTGTTCCCCTTTTTGCAGA	0.502													-	148441069	T	-	148441069	7	5	65	1	0	1	0	1	0	0	0	0	4919	1609	56	0	493	0	EDNRA	4	148441069	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	2382447	148441069	42713207	294	47120											
ARHGAP10	79658	broad.mit.edu	37	chr4	148827846	148827846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaaaggaagcagtggttGgaagctctgggtggaaagga	19	3	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:148827846G>A	uc003ilf.2	+	11	1092	c.1092G>A	c.(1090-1092)TTG>TTA	p.L364L	ARHGAP10_uc003ilg.2_Silent_p.L13L	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	364	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			skin(2)|pancreas(1)|lung(1)	4	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AGCAGTGGTTGGAAGCTCTGG	0.418													A	148827846	G	A	148827846	2	1	65	1	0	0	0	0	0	0	0	1	862	1339	47	4		4	ARHGAP10	4	148827846	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	386777	148827846	42326430	295	47121											
LRBA	987	broad.mit.edu	37	chr4	151199013	151199013	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagtgttacctctggtcGtaagacagcgccatggcccg	11	13	1	1	rs76608264	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:151199013G>A	uc010ipj.2	-	57	8967	c.8493C>T	c.(8491-8493)TAC>TAT	p.Y2831Y	LRBA_uc010ipi.2_Silent_p.Y353Y|LRBA_uc003ils.3_Silent_p.Y726Y|LRBA_uc003ilt.3_Silent_p.Y1479Y|LRBA_uc003ilu.3_Silent_p.Y2819Y|LRBA_uc003ilr.3_Silent_p.Y251Y	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2831	WD 6.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					ACCTCTGGTCGTAAGACAGCG	0.443													A	151199013	G	A	151199013	2	1	65	1	0	0	0	0	0	0	0	1	8931	1140	40	1		1	LRBA	4	151199013	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2371167	151199013	39955263	296	47122											
FHDC1	85462	broad.mit.edu	37	chr4	153897118	153897118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtggccaagtctgtgcGgaccctgaccgcctcagaga	14	13	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:153897118G>A	uc003inf.2	+	11	2750	c.2675G>A	c.(2674-2676)CGG>CAG	p.R892Q		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	892					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					AAGTCTGTGCGGACCCTGACC	0.672													A	153897118	G	A	153897118	3	1	65	1	0	0	0	0	1	0	0	0	5876	1116	39	1	2717	1	FHDC1	4	153897118	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2698105	153897118	37257158	297	47123											
LRAT	9227	broad.mit.edu	37	chr4	155665779	155665779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagcgtctcatcctgggcGttattgtcaaagtggccagc	11	11	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:155665779G>A	uc003iom.1	+	1	628	c.301G>A	c.(301-303)GTT>ATT	p.V101I	uc003iol.2_Intron|LRAT_uc003ion.1_Missense_Mutation_p.V101I	NM_004744	NP_004735	O95237	LRAT_HUMAN	lecithin retinol acyltransferase	101	Cytoplasmic (By similarity).				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)	1	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	CATCCTGGGCGTTATTGTCAA	0.572													A	155665779	G	A	155665779	3	1	65	1	0	0	0	0	1	0	0	0	8930	1145	40	1	303	1	LRAT	4	155665779	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1768661	155665779	35488497	298	47124											
FAM198B	51313	broad.mit.edu	37	chr4	159092400	159092400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccaagtagatggcacacGcagtgcccagcagaaggttt	12	11	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:159092400G>A	uc003ipp.3	-	2	580	c.128C>T	c.(127-129)GCG>GTG	p.A43V	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.A43V|FAM198B_uc003ipr.3_Missense_Mutation_p.A43V|FAM198B_uc003ips.2_Missense_Mutation_p.A43V|uc003ipt.1_RNA	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	43	Helical; Signal-anchor for type II membrane protein; (Potential).					Golgi membrane|integral to membrane					0						GATGGCACACGCAGTGCCCAG	0.642													A	159092400	G	A	159092400	3	1	65	1	0	0	0	0	1	0	0	0	5529	1087	38	1	1552	1	FAM198B	4	159092400	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	3426621	159092400	32061876	299	47125											
GLRA3	8001	broad.mit.edu	37	chr4	175649729	175649729	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcattggcaaagaacaaatCaggtttccaaatggagtcca	8	8	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:175649729C>T	uc003ity.1	-	4	891	c.388G>A	c.(388-390)GAT>AAT	p.D130N	GLRA3_uc003itz.1_Missense_Mutation_p.D130N	NM_006529	NP_006520	O75311	GLRA3_HUMAN	glycine receptor, alpha 3 isoform a	130	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(3)	3		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	AAGAACAAATCAGGTTTCCAA	0.408													T	175649729	C	T	175649729	3	4	65	1	0	0	0	0	1	0	0	0	6456	826	29	4	1034	4	GLRA3	4	175649729	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	16557329	175649729	15504547	300	47126											
NEIL3	55247	broad.mit.edu	37	chr4	178283532	178283532	+	Frame_Shift_Del	DEL	T	T	-													ggacctaacaatggaaagaaTttttttgtgtgtcctcttgg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:178283531_178283531AT>A	uc003iut.2	+	9	1841	c.1724_1724AT>A	c.(1723-1725)aatfs	p.N575fs		NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	575					base-excision repair|nucleotide-excision repair	nucleus	DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		AATGGAAAGAATTTTTTTGTG	0.403								Base excision repair (BER), DNA glycosylases					-	178283532	T	-	178283532	7	5	65	1	0	1	0	1	0	0	0	0	10320	1490	52	0	1763	0	NEIL3	4	178283532	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	2633803	178283532	12870744	301	47127											
ODZ3	55714	broad.mit.edu	37	chr4	183713497	183713497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtgggaccgcctgtctgCcatcaccatgcccagtgtgg	12	13	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:183713497C>T	uc003ivd.1	+	25	5709	c.5672C>T	c.(5671-5673)GCC>GTC	p.A1891V		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1891	YD 7.|Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CGCCTGTCTGCCATCACCATG	0.522													T	183713497	C	T	183713497	3	4	65	1	0	0	0	0	1	0	0	0	10836	739	26	2	5770	2	ODZ3	4	183713497	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	5429965	183713497	7440779	302	47128											
AHRR	57491	broad.mit.edu	37	chr5	427768	427768	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcccgggggtcacaggCttggcagctgcggctctgct	17	13	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:427768C>A	uc003jav.2	+	8	781	c.737C>A	c.(736-738)GCT>GAT	p.A246D	AHRR_uc003jaw.2_Intron|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Intron|AHRR_uc003jax.2_Intron|AHRR_uc003jay.2_Intron	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GGGTCACAGGCTTGGCAGCTG	0.512													A	427768	C	A	427768	3	1	65	1	0	0	0	0	1	0	0	0	417	797	28	5	767	5	AHRR	5	427768	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08		427768	180487492	303	47129											
AHRR	57491	broad.mit.edu	37	chr5	434269	434269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagacccatgcgggatgtcGgtgaggaccaggtgcaccct	15	12	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:434269G>A	uc003jav.2	+	12	1524	c.1480G>A	c.(1480-1482)GGT>AGT	p.G494S	AHRR_uc003jaw.2_Missense_Mutation_p.G472S|AHRR_uc010isy.2_Missense_Mutation_p.G322S|AHRR_uc010isz.2_Missense_Mutation_p.G472S|AHRR_uc003jax.2_Missense_Mutation_p.G235S|AHRR_uc003jay.2_Missense_Mutation_p.G332S|AHRR_uc003jaz.2_Missense_Mutation_p.G93S	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCGGGATGTCGGTGAGGACCA	0.657													A	434269	G	A	434269	3	1	65	1	0	0	0	0	1	0	0	0	417	1116	39	1	1526	1	AHRR	5	434269	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	6501	434269	180480991	304	47130											
SLC9A3	6550	broad.mit.edu	37	chr5	482775	482775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaaaggccacggccccgCgcaggcccccgtaggacagg	16	16	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:482775C>T	uc003jbe.2	-	7	1356	c.1244G>A	c.(1243-1245)CGC>CAC	p.R415H	SLC9A3_uc011clx.1_Missense_Mutation_p.R415H	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	415						cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CACGGCCCCGCGCAGGCCCCC	0.607													T	482775	C	T	482775	3	4	65	1	0	0	0	0	1	0	0	0	14713	768	27	1	1304	1	SLC9A3	5	482775	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	48506	482775	180432485	305	47131											
TERT	7015	broad.mit.edu	37	chr5	1294331	1294331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggctggcactgcccccgcGcctcctcgcacccggggctg	13	20	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:1294331G>A	uc003jcb.1	-	2	728	c.670C>T	c.(670-672)CGC>TGC	p.R224C	TERT_uc003jca.1_Missense_Mutation_p.R224C|TERT_uc003jcc.1_Missense_Mutation_p.R224C|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	224	RNA-interacting domain 1.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGCCCCCGCGCCTCCTCGCA	0.741									TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic				A	1294331	G	A	1294331	3	1	65	1	0	0	0	0	1	0	0	0	15761	1087	38	1	2788	1	TERT	5	1294331	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	811556	1294331	179620929	306	47132											
SLC6A3	6531	broad.mit.edu	37	chr5	1409934	1409934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctggaactcatcgatgaGcccggtgatcactgactcca	10	13	2	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:1409934G>A	uc003jck.2	-	10	1421	c.1300C>T	c.(1300-1302)CTC>TTC	p.L434F		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	434					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TCATCGATGAGCCCGGTGATC	0.617													A	1409934	G	A	1409934	3	1	65	1	0	0	0	0	1	0	0	0	14685	971	34	2	586	2	SLC6A3	5	1409934	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	115603	1409934	179505326	307	47133											
IRX1	79192	broad.mit.edu	37	chr5	3599501	3599501	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacgctcaaggcctggctcAacgagcaccgcaagaatccc	10	16	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:3599501A>G	uc003jde.2	+	2	491	c.439A>G	c.(439-441)AAC>GAC	p.N147D		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	147	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						GGCCTGGCTCAACGAGCACCG	0.632													G	3599501	A	G	3599501	3	3	65	1	0	0	0	0	1	0	0	0	7843	130	5	3	445	3	IRX1	5	3599501	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	2189567	3599501	177315759	308	47134											
ADAMTS16	170690	broad.mit.edu	37	chr5	5232611	5232611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagtatctcataggagtcGcctctgcaccaaccccaagt	10	13	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:5232611G>A	uc003jdl.2	+	12	1970	c.1832G>A	c.(1831-1833)CGC>CAC	p.R611H	ADAMTS16_uc003jdk.1_Missense_Mutation_p.R611H|ADAMTS16_uc010itk.1_5'Flank	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	611	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CATAGGAGTCGCCTCTGCACC	0.572													A	5232611	G	A	5232611	3	1	65	1	0	0	0	0	1	0	0	0	261	1087	38	1	1878	1	ADAMTS16	5	5232611	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1633110	5232611	175682649	309	47135											
CDH10	1008	broad.mit.edu	37	chr5	24505238	24505238	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tactgatttcagcagcaataAcagtaagattatgccactga	7	8	1	3	rs13174039		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:24505238A>C	uc003jgr.1	-	8	1708	c.1376T>G	c.(1375-1377)GTT>GGT	p.V459G	CDH10_uc011cnu.1_Intron	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	459	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		AGCAGCAATAACAGTAAGATT	0.294										HNSCC(23;0.051)			C	24505238	A	C	24505238	3	2	65	1	0	0	0	0	1	0	0	0	3096	43	2	5	1010	5	CDH10	5	24505238	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	19272627	24505238	156410022	310	47136											
PDZD2	23037	broad.mit.edu	37	chr5	32058080	32058080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacacacatgagcagatccGcctccccgaacttcaatacc	5	18	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:32058080G>A	uc003jhl.2	+	12	2459	c.2071G>A	c.(2071-2073)GCC>ACC	p.A691T	PDZD2_uc003jhm.2_Missense_Mutation_p.A691T|PDZD2_uc011cnx.1_Missense_Mutation_p.A517T	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	691					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GAGCAGATCCGCCTCCCCGAA	0.572													A	32058080	G	A	32058080	3	1	65	1	0	0	0	0	1	0	0	0	11701	1087	38	1	2113	1	PDZD2	5	32058080	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	7552842	32058080	148857180	311	47137											
NPR3	4883	broad.mit.edu	37	chr5	32712054	32712054	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagatcgaggtgctggtgTtactgccccaggatgactcg	14	9	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:32712054T>G	uc003jhv.2	+	1	390	c.172T>G	c.(172-174)TTA>GTA	p.L58V	NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.L58V	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	58	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	GGTGCTGGTGTTACTGCCCCA	0.542													G	32712054	T	G	32712054	3	3	65	1	0	0	0	0	1	0	0	0	10596	1722	60	5	174	5	NPR3	5	32712054	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	653974	32712054	148203206	312	47138											
SPEF2	79925	broad.mit.edu	37	chr5	35700715	35700715	+	Frame_Shift_Del	DEL	A	A	-													aacctcacagaagtggaaagAaaaaaagcacaaaaatccac							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:35700714_35700714GA>G	uc003jjo.3	+	15	2369	c.2258_2258GA>G	c.(2257-2259)agafs	p.R753fs	SPEF2_uc003jjq.4_Frame_Shift_Del_p.R748fs|SPEF2_uc003jjp.1_Frame_Shift_Del_p.R239fs	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	753					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAAGTGGAAAGAAAAAAAGCA	0.388													-	35700715	A	-	35700715	7	5	65	1	0	1	0	1	0	0	0	0	15034	243	9	0	2342	0	SPEF2	5	35700715	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	2988661	35700715	145214545	313	47139											
WDR70	55100	broad.mit.edu	37	chr5	37701208	37701209	+	Frame_Shift_Ins	INS	-	-	T													cgacaatttaataaaccactINStttttcagcctcgggtcttc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:37701207_37701208C>CT	uc003jkv.3	+	11	1298_1299	c.1240_1241C>CT	c.(1240-1242)cttfs	p.L414fs		NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	414										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAATAAACCACTTTTTTCAGCC	0.347													T	37701209	-	T	37701208	7	5	65	1	0	1	1	0	0	0	0	0	17318	1609	56	0	1287	0	WDR70	5	37701208	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	2000493	37701208	143214052	314	47140											
DAB2	1601	broad.mit.edu	37	chr5	39382876	39382876	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcttcccacaaaagggttCggggaggatttgacagagaa	15	7	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:39382876C>T	uc003jlx.2	-	10	1716	c.1185G>A	c.(1183-1185)CCG>CCA	p.P395P	DAB2_uc003jlw.2_Silent_p.P374P	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	395					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			CAAAAGGGTTCGGGGAGGATT	0.512													T	39382876	C	T	39382876	2	4	65	1	0	0	0	0	0	0	0	1	4218	871	31	1		1	DAB2	5	39382876	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1681668	39382876	141532384	315	47141											
PTGER4	5734	broad.mit.edu	37	chr5	40681632	40681632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactggaccaccaacgtgacGgcgcacgccgcctactccta	10	17	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:40681632G>A	uc003jlz.2	+	2	1129	c.537G>A	c.(535-537)ACG>ACA	p.T179T		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	179	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			lung(2)	2						CCAACGTGACGGCGCACGCCG	0.632													A	40681632	G	A	40681632	2	1	65	1	0	0	0	0	0	0	0	1	12745	1103	39	1		1	PTGER4	5	40681632	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1298756	40681632	140233628	316	47142											
C5orf34	375444	broad.mit.edu	37	chr5	43506054	43506054	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctctggacaggcagccacaGaccagcactgcttgacccat	9	16	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:43506054G>A	uc003jnz.1	-	5	1045	c.728C>T	c.(727-729)TCT>TTT	p.S243F	C5orf34_uc011cpx.1_Missense_Mutation_p.S129F	NM_198566	NP_940968	Q96MH7	CE034_HUMAN	hypothetical protein LOC375444	243										breast(1)	1	Lung NSC(6;2.07e-05)					GGCAGCCACAGACCAGCACTG	0.413													A	43506054	G	A	43506054	3	1	65	1	0	0	0	0	1	0	0	0	2293	942	33	4	1228	4	C5orf34	5	43506054	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2824422	43506054	137409206	317	47143											
GZMA	3001	broad.mit.edu	37	chr5	54404137	54404137	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacagaaaagtctgcaatgAtcgaaatcactataatttta	6	6	2	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:54404137A>G	uc003jpm.2	+	4	579	c.542A>G	c.(541-543)GAT>GGT	p.D181G		NM_006144	NP_006135	P12544	GRAA_HUMAN	granzyme A precursor	181	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GTCTGCAATGATCGAAATCAC	0.428													G	54404137	A	G	54404137	3	3	65	1	0	0	0	0	1	0	0	0	6915	333	12	3	556	3	GZMA	5	54404137	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	10898083	54404137	126511123	318	47144											
MAST4	375449	broad.mit.edu	37	chr5	66456371	66456371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaaacagctataagagcCggatggtgaggcggagcaag	17	6	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:66456371C>T	uc003jut.1	+	26	3237	c.3169C>T	c.(3169-3171)CGG>TGG	p.R1057W	MAST4_uc003juw.2_Missense_Mutation_p.R985W	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1249						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CTATAAGAGCCGGATGGTGAG	0.398													T	66456371	C	T	66456371	3	4	65	1	0	0	0	0	1	0	0	0	9327	643	23	1	3972	1	MAST4	5	66456371	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	12052234	66456371	114458889	319	47145											
RAD17	5884	broad.mit.edu	37	chr5	68687822	68687822	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttcagagctttggggAaaattctatattgtaaaagt	8	5	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:68687822A>G	uc003jwo.2	+	10	1266	c.1204A>G	c.(1204-1206)AAA>GAA	p.K402E	RAD17_uc003jwg.2_Missense_Mutation_p.K391E|RAD17_uc003jwh.2_Missense_Mutation_p.K391E|RAD17_uc003jwi.2_Missense_Mutation_p.K391E|RAD17_uc003jwj.2_Missense_Mutation_p.K391E|RAD17_uc003jwk.2_Missense_Mutation_p.K391E|RAD17_uc003jwl.2_Missense_Mutation_p.K391E|RAD17_uc003jwm.2_Missense_Mutation_p.K226E|RAD17_uc003jwn.2_Missense_Mutation_p.K305E|RAD17_uc003jwp.2_5'Flank	NM_133339	NP_579917	O75943	RAD17_HUMAN	RAD17 homolog isoform 2	402					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding				0		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AGCTTTGGGGAAAATTCTATA	0.294								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					G	68687822	A	G	68687822	3	3	65	1	0	0	0	0	1	0	0	0	12979	247	9	3	1255	3	RAD17	5	68687822	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	2231451	68687822	112227438	320	47146											
ZNF366	167465	broad.mit.edu	37	chr5	71756247	71756247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttctcgcgcccactggcGtgcttggcttcgtgggcctt	13	13	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:71756247G>A	uc003kce.1	-	2	1263	c.1077C>T	c.(1075-1077)CAC>CAT	p.H359H		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	359	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCCCACTGGCGTGCTTGGCTT	0.662													A	71756247	G	A	71756247	2	1	65	1	0	0	0	0	0	0	0	1	17867	1136	40	1		1	ZNF366	5	71756247	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	3068425	71756247	109159013	321	47147											
GFM2	84340	broad.mit.edu	37	chr5	74028900	74028900	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actgggatcttcacgctgaaGacatttcaacgcatgttcca	8	11	3	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:74028900G>A	uc003kdh.1	-	16	1838	c.1534C>T	c.(1534-1536)CTT>TTT	p.L512F	GFM2_uc003kdi.1_Missense_Mutation_p.L465F|GFM2_uc010izj.1_Missense_Mutation_p.L544F|GFM2_uc010izk.1_RNA	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	mitochondrial elongation factor G2 isoform 1	512					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity				0		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TCACGCTGAAGACATTTCAAC	0.289													A	74028900	G	A	74028900	3	1	65	1	0	0	0	0	1	0	0	0	6342	942	33	4	829	4	GFM2	5	74028900	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2272653	74028900	106886360	322	47148											
COL4A3BP	10087	broad.mit.edu	37	chr5	74698880	74698880	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attaatcagactgttagggcCttcctattccaacacacagt	6	11	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:74698880C>A	uc011csu.1	-	9	1356	c.934G>T	c.(934-936)GGC>TGC	p.G312C	COL4A3BP_uc003kds.2_Missense_Mutation_p.G312C|COL4A3BP_uc003kdt.2_Missense_Mutation_p.G440C|COL4A3BP_uc003kdu.2_Missense_Mutation_p.G312C	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	alpha 3 type IV collagen binding protein isoform	312					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			skin(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		CTGTTAGGGCCTTCCTATTCC	0.333													A	74698880	C	A	74698880	3	1	65	1	0	0	0	0	1	0	0	0	3692	681	24	5	976	5	COL4A3BP	5	74698880	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	669980	74698880	106216380	323	47149											
CAMK4	814	broad.mit.edu	37	chr5	110560283	110560283	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgtcccggattactggatCgacggctccaacagggatgc	12	13	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:110560283C>T	uc011cvj.1	+	2	201	c.102C>T	c.(100-102)ATC>ATT	p.I34I	CAMK4_uc003kpf.2_Silent_p.I34I|CAMK4_uc010jbv.2_5'UTR	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	34					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATTACTGGATCGACGGCTCCA	0.687													T	110560283	C	T	110560283	2	4	65	1	0	0	0	0	0	0	0	1	2605	874	31	1		1	CAMK4	5	110560283	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	35861403	110560283	70354977	324	47150											
APC	324	broad.mit.edu	37	chr5	112177857	112177857	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctgaaagtaaaggaatcaAaggaggaaaaaaagtttata	9	2	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:112177857A>G	uc010jby.2	+	16	6946	c.6566A>G	c.(6565-6567)AAA>AGA	p.K2189R	APC_uc011cvt.1_Missense_Mutation_p.K2171R|APC_uc003kpz.3_Missense_Mutation_p.K2189R|APC_uc003kpy.3_Missense_Mutation_p.K2189R|APC_uc010jbz.2_Missense_Mutation_p.K1906R|APC_uc010jca.2_Missense_Mutation_p.K1489R	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2189	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAAGGAATCAAAGGAGGAAAA	0.343		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			G	112177857	A	G	112177857	3	3	65	1	0	0	0	0	1	0	0	0	763	14	1	3	6624	3	APC	5	112177857	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	1617574	112177857	68737403	325	47151											
CHSY3	337876	broad.mit.edu	37	chr5	129241210	129241210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatcgcgctaccgggtgtgGacgactcctatcctccccag	10	16	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:129241210G>A	uc003kvd.2	+	1	688	c.688G>A	c.(688-690)GAC>AAC	p.D230N		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	230	Lumenal (Potential).|Pro-rich.					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		ACCGGGTGTGGACGACTCCTA	0.612													A	129241210	G	A	129241210	3	1	65	1	0	0	0	0	1	0	0	0	3413	1174	41	4	690	4	CHSY3	5	129241210	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	17063353	129241210	51674050	326	47152											
TRPC7	57113	broad.mit.edu	37	chr5	135549172	135549172	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtctttgtttaagttcTttccaaacttctcgctgagt	9	8	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:135549172T>G	uc003lbn.1	-	11	2540	c.2537A>C	c.(2536-2538)AAG>ACG	p.K846T	TRPC7_uc010jef.1_Missense_Mutation_p.K783T|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.K777T|TRPC7_uc010jei.1_Missense_Mutation_p.K722T|TRPC7_uc010jej.1_Missense_Mutation_p.K398T	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	847	Cytoplasmic (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTAAGTTCTTTCCAAACTT	0.488													G	135549172	T	G	135549172	3	3	65	1	0	0	0	0	1	0	0	0	16581	1609	56	5	52	5	TRPC7	5	135549172	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	6307962	135549172	45366088	327	47153											
TRPC7	57113	broad.mit.edu	37	chr5	135692820	135692820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctaggtgctcgttgcccaCggccagctgcagagcgttct	12	14	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:135692820C>T	uc003lbn.1	-	1	256	c.253G>A	c.(253-255)GTG>ATG	p.V85M	TRPC7_uc010jef.1_Missense_Mutation_p.V77M|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.V77M|TRPC7_uc010jei.1_Missense_Mutation_p.V77M|TRPC7_uc010jej.1_Translation_Start_Site	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	86	Cytoplasmic (Potential).|ANK 2.				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCGTTGCCCACGGCCAGCTGC	0.597													T	135692820	C	T	135692820	3	4	65	1	0	0	0	0	1	0	0	0	16581	536	19	1	2376	1	TRPC7	5	135692820	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	143648	135692820	45222440	328	47154											
CDC25C	995	broad.mit.edu	37	chr5	137627690	137627691	+	Frame_Shift_Ins	INS	-	-	T													tccttggccagaaaaatactINStttttttaactttatctggt							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:137627689_137627690C>CT	uc003lcs.1	-	7	1165_1166	c.965_966G>AG	c.(964-966)aagfs	p.K322fs	CDC25C_uc003lcp.1_Frame_Shift_Ins_p.K244fs|CDC25C_uc003lcq.1_Frame_Shift_Ins_p.K171fs|CDC25C_uc003lcr.1_Frame_Shift_Ins_p.K244fs|CDC25C_uc011cyp.1_Frame_Shift_Ins_p.K261fs	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	244	Rhodanese.				DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGAAAAATACTTTTTTTTAAC	0.386													T	137627691	-	T	137627690	7	5	65	1	0	1	1	0	0	0	0	0	3064	1609	56	0	718	0	CDC25C	5	137627690	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	1934870	137627690	43287570	329	47155											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139865292	139865292	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacagatgtgtctcagctccCtccaccttctcaagatcagt	6	15	3	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:139865292C>A	uc003lfs.1	+	13	2241	c.2117C>A	c.(2116-2118)CCT>CAT	p.P706H	ANKHD1_uc003lfq.1_Missense_Mutation_p.P725H|ANKHD1_uc003lfr.2_Missense_Mutation_p.P706H|ANKHD1_uc003lft.1_Missense_Mutation_p.P186H|ANKHD1_uc003lfu.1_Missense_Mutation_p.P186H|ANKHD1_uc003lfv.1_Missense_Mutation_p.P36H	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	706						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCAGCTCCCTCCACCTTCT	0.358													A	139865292	C	A	139865292	3	1	65	1	0	0	0	0	1	0	0	0	629	681	24	5	2167	5	ANKHD1-EIF4EBP3	5	139865292	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2237602	139865292	41049968	330	47156											
PCDHA1	56147	broad.mit.edu	37	chr5	140166076	140166076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgcctgttccgggtggcGtccaaaacacacagggacct	11	15	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:140166076G>A	uc003lhb.2	+	1	201	c.201G>A	c.(199-201)GCG>GCA	p.A67A	PCDHA1_uc003lha.2_Silent_p.A67A|PCDHA1_uc003lgz.2_Silent_p.A67A	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	67	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGGTGGCGTCCAAAACAC	0.602													A	140166076	G	A	140166076	2	1	65	1	0	0	0	0	0	0	0	1	11519	1132	40	1		1	PCDHA1	5	140166076	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	300784	140166076	40749184	331	47157											
PCDHA4	56144	broad.mit.edu	37	chr5	140188623	140188623	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagccggggactggtggCgcgcgcatcccgttccgcgt	16	15	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:140188623C>T	uc003lhi.2	+	1	1952	c.1851C>T	c.(1849-1851)GGC>GGT	p.G617G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.G617G|PCDHA4_uc011daa.1_Silent_p.G617G	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	617	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACTGGTGGCGCGCGCATCC	0.682													T	140188623	C	T	140188623	2	4	65	1	0	0	0	0	0	0	0	1	11526	755	27	1		1	PCDHA4	5	140188623	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	22547	140188623	40726637	332	47158											
PCDHA7	56141	broad.mit.edu	37	chr5	140215888	140215888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacgagccctagatgagacGgacgcaccgcgccaccgcct	11	17	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:140215888G>A	uc003lhq.2	+	1	1920	c.1920G>A	c.(1918-1920)ACG>ACA	p.T640T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.T640T	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	640	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGATGAGACGGACGCACCGC	0.652													A	140215888	G	A	140215888	2	1	65	1	0	0	0	0	0	0	0	1	11529	1103	39	1		1	PCDHA7	5	140215888	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	27265	140215888	40699372	333	47159											
PCDHA11	56138	broad.mit.edu	37	chr5	140249016	140249016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatccacctggaggtgatcGtggacaggccgctgcaggtt	15	11	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:140249016G>A	uc003lia.2	+	1	1186	c.328G>A	c.(328-330)GTG>ATG	p.V110M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.V110M	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	110	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGTGATCGTGGACAGGCC	0.552													A	140249016	G	A	140249016	3	1	65	1	0	0	0	0	1	0	0	0	11521	1145	40	1	330	1	PCDHA11	5	140249016	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	33128	140249016	40666244	334	47160											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773918	140773918	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcaactctgacaccggtgTcctgtatgcgctgcaatctt	8	13	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:140773918T>C	uc003lkd.1	+	1	2436	c.1538T>C	c.(1537-1539)GTC>GCC	p.V513A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.V513A	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	513	Extracellular (Potential).|Cadherin 5.				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)			GACACCGGTGTCCTGTATGCG	0.592													C	140773918	T	C	140773918	3	2	65	1	0	0	0	0	1	0	0	0	11560	1667	58	3	1540	3	PCDHGA8	5	140773918	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	524902	140773918	40141342	335	47161											
PCDHGB5	56101	broad.mit.edu	37	chr5	140779258	140779258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgactacgagcagctgCgcaccttcgaactcacacta	7	15	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:140779258C>T	uc003lkf.1	+	1	1564	c.1564C>T	c.(1564-1566)CGC>TGC	p.R522C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.R522C	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	522	Extracellular (Potential).|Cadherin 5.				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)			CGAGCAGCTGCGCACCTTCGA	0.652													T	140779258	C	T	140779258	3	4	65	1	0	0	0	0	1	0	0	0	11566	768	27	1	1566	1	PCDHGB5	5	140779258	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	5340	140779258	40136002	336	47162											
GRIA1	2890	broad.mit.edu	37	chr5	153085479	153085479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcctcttcctggtcagcCgcttcagtccctatgaatgg	9	13	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:153085479C>T	uc003lva.3	+	11	2040	c.1675C>T	c.(1675-1677)CGC>TGC	p.R559C	GRIA1_uc003luy.3_Missense_Mutation_p.R559C|GRIA1_uc003luz.3_Missense_Mutation_p.R464C|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.R479C|GRIA1_uc011dcx.1_Missense_Mutation_p.R490C|GRIA1_uc011dcy.1_Missense_Mutation_p.R569C|GRIA1_uc011dcz.1_Missense_Mutation_p.R569C|GRIA1_uc010jia.1_Missense_Mutation_p.R539C	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	559	Cytoplasmic (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCTGGTCAGCCGCTTCAGTCC	0.483													T	153085479	C	T	153085479	3	4	65	1	0	0	0	0	1	0	0	0	6767	652	23	1	1717	1	GRIA1	5	153085479	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	12306221	153085479	27829781	337	47163											
RNF145	153830	broad.mit.edu	37	chr5	158596066	158596066	+	Splice_Site	DEL	A	A	-													actccttctgtcatgcccctAaaaaaagcatacattttcag							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:158596065_158596065TA>T	uc010jiq.2	-	8	1179	c.1029_splice	c.e8-1	p.R343_splice	RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	313						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATGCCCCTAAAAAAAGCA	0.363													-	158596066	A	-	158596066	8	5	65	1	0	1	0	1	0	0	1	0	13447	377	13	0		0	RNF145	5	158596066	Splice_Site	DEL	A	TCGA-BR-8081-01A-11D-2340-08	5510587	158596066	22319194	338	47164											
FGFR4	2264	broad.mit.edu	37	chr5	176524326	176524326	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgagtgctggcacgcagcGccctcccagaggcctacctt	12	16	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:176524326G>A	uc003mfl.2	+	17	2354	c.2187G>A	c.(2185-2187)GCG>GCA	p.A729A	FGFR4_uc003mfm.2_Silent_p.A729A|FGFR4_uc011dfu.1_Silent_p.A661A|FGFR4_uc003mfo.2_Silent_p.A689A	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	729	Protein kinase.|Cytoplasmic (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	p.A689A(1)|p.A729A(1)		lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GGCACGCAGCGCCCTCCCAGA	0.687										TSP Lung(9;0.080)			A	176524326	G	A	176524326	2	1	65	1	0	0	0	0	0	0	0	1	5868	1074	38	1		1	FGFR4	5	176524326	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	17928260	176524326	4390934	339	47165											
HNRNPH1	3187	broad.mit.edu	37	chr5	179042578	179042578	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgattgaaaatcactggagTtttcctgtaaaacttggtct	8	6	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:179042578T>A	uc003mkf.3	-	13	1425	c.1319A>T	c.(1318-1320)AAC>ATC	p.N440I	HNRNPH1_uc011dgn.1_Missense_Mutation_p.N150I|HNRNPH1_uc003mkg.3_Missense_Mutation_p.N348I|HNRNPH1_uc003mke.3_Missense_Mutation_p.N440I|HNRNPH1_uc003mkh.3_Missense_Mutation_p.N440I	NM_005520	NP_005511	P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1	440					regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding				0						ATCACTGGAGTTTTCCTGTAA	0.274													A	179042578	T	A	179042578	3	1	65	1	0	0	0	0	1	0	0	0	7266	1725	60	5	34	5	HNRNPH1	5	179042578	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	2518252	179042578	1872682	340	47166											
MGAT4B	11282	broad.mit.edu	37	chr5	179226099	179226099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacatgctccttccgcagcGcctgctttccaaagtctttg	7	15	2	0	rs146600579		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:179226099G>A	uc003mks.2	-	11	1541	c.1172C>T	c.(1171-1173)GCG>GTG	p.A391V	MGAT4B_uc003mkp.2_Missense_Mutation_p.A245V|MGAT4B_uc003mkq.2_Silent_p.G166G|MGAT4B_uc003mkr.2_Missense_Mutation_p.A406V|MIR1229_hsa-mir-1229|MI0006319_5'Flank	NM_014275	NP_055090	Q9UQ53	MGT4B_HUMAN	alpha-1,3-mannosyl-glycoprotein	391	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding				0	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCCGCAGCGCCTGCTTTCC	0.622													A	179226099	G	A	179226099	3	1	65	1	0	0	0	0	1	0	0	0	9546	1087	38	1	494	1	MGAT4B	5	179226099	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	183521	179226099	1689161	341	47167											
TBC1D9B	23061	broad.mit.edu	37	chr5	179290483	179290483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgctcatggtcactggCggtgctgaactgtctctcca	12	12	3	1	rs151265651	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:179290483C>T	uc003mlh.2	-	22	3755	c.3718G>A	c.(3718-3720)GCC>ACC	p.A1240T	TBC1D9B_uc003mli.2_Missense_Mutation_p.A1223T|TBC1D9B_uc003mlj.2_Missense_Mutation_p.A1222T|TBC1D9B_uc003mlf.2_Missense_Mutation_p.A314T|TBC1D9B_uc003mlg.2_Missense_Mutation_p.A399T|TBC1D9B_uc011dgv.1_Missense_Mutation_p.A399T	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1240						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGTCACTGGCGGTGCTGAAC	0.562													T	179290483	C	T	179290483	3	4	65	1	0	0	0	0	1	0	0	0	15625	768	27	1	38	1	TBC1D9B	5	179290483	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	64384	179290483	1624777	342	47168											
MGAT1	4245	broad.mit.edu	37	chr5	180219400	180219400	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagacctggcccagcgccCagcggtagtggcgcgcgatc	16	14	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:180219400C>T	uc003mmg.3	-	2	1067	c.572G>A	c.(571-573)TGG>TAG	p.W191*	MGAT1_uc010jlf.2_Nonsense_Mutation_p.W191*|MGAT1_uc010jlg.2_Nonsense_Mutation_p.W191*|MGAT1_uc003mmh.3_Nonsense_Mutation_p.W191*|MGAT1_uc010jlh.2_Nonsense_Mutation_p.W191*|MGAT1_uc003mmi.3_Nonsense_Mutation_p.W191*	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	191	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(1)	1	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCAGCGCCCAGCGGTAGTG	0.677													T	180219400	C	T	180219400	4	4	65	1	0	0	0	0	0	1	0	0	9542	595	21	4	769	4	MGAT1	5	180219400	Nonsense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	928917	180219400	695860	343	47169											
RIPK1	8737	broad.mit.edu	37	chr6	3077208	3077208	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaacagtgtacaaggggCccaactgcattgagtgagta	12	7	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:3077208C>A	uc010jni.2	+	2	383	c.151C>A	c.(151-153)CCC>ACC	p.P51T	RIPK1_uc003muv.3_5'UTR|RIPK1_uc003muw.3_Intron|RIPK1_uc011dhs.1_Missense_Mutation_p.P51T|RIPK1_uc003mux.2_Missense_Mutation_p.P51T	NM_003804	NP_003795	Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine	51	Protein kinase.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			large_intestine(3)|lung(1)|skin(1)	5	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GTACAAGGGGCCCAACTGCAT	0.582													A	3077208	C	A	3077208	3	1	65	1	0	0	0	0	1	0	0	0	13380	739	26	5	153	5	RIPK1	6	3077208	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08		3077208	168037859	344	47170											
HIVEP1	3096	broad.mit.edu	37	chr6	12124092	12124092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctggcttgaatactctgaAtgttcctggatgtcaccggg	12	9	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:12124092A>G	uc003nac.2	+	4	4243	c.4064A>G	c.(4063-4065)AAT>AGT	p.N1355S	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1355					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AATACTCTGAATGTTCCTGGA	0.428													G	12124092	A	G	12124092	3	3	65	1	0	0	0	0	1	0	0	0	7186	101	4	3	4074	3	HIVEP1	6	12124092	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	9046884	12124092	158990975	345	47171											
HIST1H3C	8352	broad.mit.edu	37	chr6	26046023	26046023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaagatatccagctggcaCgtcgcatccgtggggaaagg	13	11	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:26046023C>T	uc003nfv.2	+	1	385	c.385C>T	c.(385-387)CGT>TGT	p.R129C	HIST1H2BB_uc003nfu.2_5'Flank	NM_003531	NP_003522	P68431	H31_HUMAN	histone cluster 1, H3c	129					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						CCAGCTGGCACGTCGCATCCG	0.498													T	26046023	C	T	26046023	3	4	65	1	0	0	0	0	1	0	0	0	7157	536	19	1	387	1	HIST1H3C	6	26046023	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	13921931	26046023	145069044	346	47172											
BTN2A2	10385	broad.mit.edu	37	chr6	26390383	26390383	+	Frame_Shift_Del	DEL	A	A	-													catcaagaaacttcaaagggAaaaaaagattctgtcagggg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:26390382_26390382GA>G	uc003nht.3	+	4	1007	c.874_874GA>G	c.(874-876)gaafs	p.E292fs	BTN2A2_uc003nhs.3_Frame_Shift_Del_p.E292fs|BTN2A2_uc011dkf.2_Frame_Shift_Del_p.E176fs|BTN2A2_uc003nhq.3_Frame_Shift_Del_p.E292fs|BTN2A2_uc003nhr.3_Frame_Shift_Del_p.E176fs|BTN2A2_uc011dkh.2_Frame_Shift_Del_p.E82fs|BTN2A2_uc011dkg.2_Frame_Shift_Del_p.E198fs|BTN2A2_uc011dki.1_Frame_Shift_Del_p.E41fs	NM_001197237	NP_001184166	Q8WVV5	BT2A2_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A2 (BTN2A2), transcript variant 3, mRNA.	292					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						ACTTCAAAGGGAAAAAAAGAT	0.398													-	26390383	A	-	26390383	7	5	65	1	0	1	0	1	0	0	0	0	1561	246	9	0	889	0	BTN2A2	6	26390383	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	344360	26390383	144724684	347	47173											
BTN2A1	11120	broad.mit.edu	37	chr6	26468713	26468713	+	Missense_Mutation	SNP	A	A	G													ccctgcactcacaggagccaAtggggtcacggtgcctgaag					rs149725979	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:26468713A>G	uc003nib.1	+	8	1732	c.1520A>G	c.(1519-1521)AAT>AGT	p.N507S	BTN2A1_uc003nic.1_3'UTR|BTN2A1_uc003nid.1_Missense_Mutation_p.N355S|BTN2A1_uc011dko.1_Missense_Mutation_p.N446S|BTN2A1_uc010jqk.1_Intron	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1 isoform 1	507	Cytoplasmic (Potential).				lipid metabolic process	integral to plasma membrane				ovary(1)|skin(1)	2						ACAGGAGCCAATGGGGTCACG	0.567													G	26468713	A	G	26468713	3	3	65	1	0	0	0	0	1	0	0	0	1560	101	4	3	1573	3	BTN2A1	6	26468713	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	78330	26468713	144646354	348	47174	183	2									
BTN2A1	11120	broad.mit.edu	37	chr6	26468722	26468722	+	Missense_Mutation	SNP	C	C	T													cacaggagccaatggggtcaCggtgcctgaagagggcctga					rs145758816	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:26468722C>T	uc003nib.1	+	8	1741	c.1529C>T	c.(1528-1530)ACG>ATG	p.T510M	BTN2A1_uc003nic.1_3'UTR|BTN2A1_uc003nid.1_Missense_Mutation_p.T358M|BTN2A1_uc011dko.1_Missense_Mutation_p.T449M|BTN2A1_uc010jqk.1_Intron	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1 isoform 1	510	Cytoplasmic (Potential).				lipid metabolic process	integral to plasma membrane				ovary(1)|skin(1)	2						AATGGGGTCACGGTGCCTGAA	0.567													T	26468722	C	T	26468722	3	4	65	1	0	0	0	0	1	0	0	0	1560	536	19	1	1582	1	BTN2A1	6	26468722	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	9	26468722	144646345	349	47175	183	2									
SCAND3	114821	broad.mit.edu	37	chr6	28540669	28540669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactttctcgatgaatgaaGcaatgtgttgttttacattc	8	6	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:28540669G>A	uc003nlo.2	-	4	3615	c.2997C>T	c.(2995-2997)TGC>TGT	p.C999C		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	999					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						gatgaatgaagcaatgtgttg	0													A	28540669	G	A	28540669	2	1	65	1	0	0	0	0	0	0	0	1	13876	963	34	2		2	SCAND3	6	28540669	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2071947	28540669	142574398	350	47176											
OR11A1	26531	broad.mit.edu	37	chr6	29394924	29394924	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggccacagaacctcagctgGgccaccagggccacaaccag	12	16	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:29394924G>T	uc003nmg.2	-	1	586	c.495C>A	c.(493-495)GCC>GCA	p.A165A		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A,	165	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ACCTCAGCTGGGCCACCAGGG	0.572													T	29394924	G	T	29394924	2	4	65	1	0	0	0	0	0	0	0	1	10924	1219	43	5		5	OR11A1	6	29394924	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	854255	29394924	141720143	351	47177											
HLA-A	3105	broad.mit.edu	37	chr6	29911900	29911900	+	Splice_Site	DEL	C	C	-													ttctgactcttcccgtcagaCccccccaagacacatatgac					rs75368153		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:29911899_29911899AC>A	uc003nol.3	+	4	704	c.620_splice	c.e4-1	p.D207_splice	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_5'Flank|HLA-A_uc021ytz.1_Splice_Site_p.D207_splice|HLA-A_uc010jrq.3_Splice_Site_p.D86_splice|HLA-A_uc003nok.3_Splice_Site_p.D86_splice|HLA-A_uc010klp.2_Splice_Site_p.D179_splice|HLA-A_uc011dmc.2_Splice_Site_p.D86_splice|HLA-A_uc011dmd.2_Splice_Site_p.D86_splice|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	207	Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TTCCCGTCAGACCCCCCCAAG	0.577									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			-	29911900	C	-	29911900	8	5	65	1	0	1	0	1	0	0	1	0	7195	521	18	0	635	0	HLA-A	6	29911900	Splice_Site	DEL	C	TCGA-BR-8081-01A-11D-2340-08	516976	29911900	141203167	352	47178											
TRIM26	7726	broad.mit.edu	37	chr6	30166814	30166814	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatggtcacagggtcccgcaGgtaatcaagacagatggagc	13	9	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:30166814G>T	uc003npr.2	-	3	276	c.67C>A	c.(67-69)CTG>ATG	p.L23M	TRIM26_uc003nps.2_Missense_Mutation_p.L23M|TRIM26_uc010jry.2_Translation_Start_Site|TRIM26_uc003npt.2_Missense_Mutation_p.L23M|TRIM26_uc003npu.1_Missense_Mutation_p.L23M	NM_003449	NP_003440	Q12899	TRI26_HUMAN	tripartite motif-containing 26	23	RING-type.						DNA binding|zinc ion binding			ovary(2)|lung(1)	3						GGGTCCCGCAGGTAATCAAGA	0.612													T	30166814	G	T	30166814	3	4	65	1	0	0	0	0	1	0	0	0	16497	991	35	5	1580	5	TRIM26	6	30166814	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	254914	30166814	140948253	353	47179											
MUC21	394263	broad.mit.edu	37	chr6	30955787	30955787	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttttttagagaaacagccTgtccctgagaaacaccttta	6	10	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:30955787T>G	uc003nsh.2	+	3	1768	c.1517T>G	c.(1516-1518)CTG>CGG	p.L506R	MUC21_uc003nsi.1_RNA	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	mucin 21 precursor	506	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)|skin(1)	2						AGAAACAGCCTGTCCCTGAGA	0.522													G	30955787	T	G	30955787	3	3	65	1	0	0	0	0	1	0	0	0	9977	1580	55	5	1527	5	MUC21	6	30955787	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	788973	30955787	140159280	354	47180											
NFKBIL1	4795	broad.mit.edu	37	chr6	31525449	31525449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctaagccgctgtccctccGccatgggaataaagaataag	10	11	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:31525449G>A	uc003nub.2	+	3	498	c.379G>A	c.(379-381)GCC>ACC	p.A127T	NFKBIL1_uc011dnr.1_Missense_Mutation_p.A104T|NFKBIL1_uc011dns.1_Missense_Mutation_p.A104T|NFKBIL1_uc011dnt.1_RNA|NFKBIL1_uc003nuc.2_Missense_Mutation_p.A127T	NM_005007	NP_004998	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene	127	ANK 2.				cytoplasmic sequestering of transcription factor		protein binding				0						CTGTCCCTCCGCCATGGGAAT	0.577													A	31525449	G	A	31525449	3	1	65	1	0	0	0	0	1	0	0	0	10381	1087	38	1	389	1	NFKBIL1	6	31525449	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	569662	31525449	139589618	355	47181											
RXRB	6257	broad.mit.edu	37	chr6	33163388	33163388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctgaatgggctgagttGcggtgcacgtgaagacctgt	15	9	0	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:33163388G>A	uc003odb.2	-	7	1394	c.1215C>T	c.(1213-1215)CGC>CGT	p.R405R	RXRB_uc003odc.2_Silent_p.R405R|RXRB_uc003odd.2_Silent_p.R309R|RXRB_uc011dqr.1_Silent_p.R215R|RXRB_uc011dqs.1_3'UTR	NM_021976	NP_068811	P28702	RXRB_HUMAN	retinoid X receptor, beta	405	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			ovary(3)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGGCTGAGTTGCGGTGCACGT	0.572													A	33163388	G	A	33163388	2	1	65	1	0	0	0	0	0	0	0	1	13764	1306	46	2		2	RXRB	6	33163388	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1637939	33163388	137951679	356	47182											
ZBTB9	221504	broad.mit.edu	37	chr6	33424018	33424018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggacaccccctgcagatGgaaaacgctttggttgcctg	14	11	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:33424018G>A	uc003oeq.2	+	2	1409	c.1141G>A	c.(1141-1143)GGA>AGA	p.G381R		NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	381	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCCTGCAGATGGAAAACGCTT	0.597													A	33424018	G	A	33424018	3	1	65	1	0	0	0	0	1	0	0	0	17555	1349	47	4	1143	4	ZBTB9	6	33424018	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	260630	33424018	137691049	357	47183											
SPDEF	25803	broad.mit.edu	37	chr6	34512112	34512112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggactgggactccagtcccGtctctcgagacccactgccc	10	17	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:34512112G>A	uc003ojq.1	-	2	536	c.121C>T	c.(121-123)CGG>TGG	p.R41W	SPDEF_uc011dsq.1_Missense_Mutation_p.R41W	NM_012391	NP_036523	O95238	SPDEF_HUMAN	SAM pointed domain containing ets transcription	41					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(3)|ovary(1)|central_nervous_system(1)	5						CTCCAGTCCCGTCTCTCGAGA	0.672													A	34512112	G	A	34512112	3	1	65	1	0	0	0	0	1	0	0	0	15025	1144	40	1	906	1	SPDEF	6	34512112	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1088094	34512112	136602955	358	47184											
ZNF76	7629	broad.mit.edu	37	chr6	35259412	35259412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatccgcaaggtacatgtgCgcacccacacaggcgagagg	12	13	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:35259412C>T	uc003oki.1	+	9	1034	c.829C>T	c.(829-831)CGC>TGC	p.R277C	ZNF76_uc011dsy.1_Missense_Mutation_p.R277C|ZNF76_uc011dsz.1_Missense_Mutation_p.R277C|ZNF76_uc003okj.1_Missense_Mutation_p.R277C	NM_003427	NP_003418	P36508	ZNF76_HUMAN	zinc finger protein 76 (expressed in testis)	277	C2H2-type 4.				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGTACATGTGCGCACCCACAC	0.602													T	35259412	C	T	35259412	3	4	65	1	0	0	0	0	1	0	0	0	18132	768	27	1	859	1	ZNF76	6	35259412	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	747300	35259412	135855655	359	47185											
STK38	11329	broad.mit.edu	37	chr6	36475326	36475326	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctataaaattctgtcctAtgtgcttttttcagtcctgt	5	9	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:36475326A>G	uc003omg.2	-	7	1311	c.723T>C	c.(721-723)CAT>CAC	p.H241H	STK38_uc003omh.2_Silent_p.H241H|STK38_uc003omi.2_Silent_p.H241H	NM_007271	NP_009202	Q15208	STK38_HUMAN	serine/threonine kinase 38	241	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						ATTCTGTCCTATGTGCTTTTT	0.423													G	36475326	A	G	36475326	2	3	65	1	0	0	0	0	0	0	0	1	15302	446	16	3		3	STK38	6	36475326	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	1215914	36475326	134639741	360	47186											
MTCH1	23787	broad.mit.edu	37	chr6	36946332	36946332	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggcgttggacatcagccgGggactcaggcctcggaacag	16	11	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:36946332G>T	uc003ond.1	-	3	462	c.462C>A	c.(460-462)CCC>CCA	p.P154P	MTCH1_uc003onc.1_Silent_p.P154P|MTCH1_uc010jwo.1_RNA|MTCH1_uc003one.3_Silent_p.P154P|MTCH1_uc011dtt.1_5'UTR	NM_014341	NP_055156	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier homolog 1	154	Solcar 1.				activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding				0						ACATCAGCCGGGGACTCAGGC	0.557													T	36946332	G	T	36946332	2	4	65	1	0	0	0	0	0	0	0	1	9913	1219	43	5		5	MTCH1	6	36946332	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	471006	36946332	134168735	361	47187											
MDGA1	266727	broad.mit.edu	37	chr6	37613720	37613720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtctcacctgaaaggttcGgagagttgatggctgagaaa	14	6	1	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:37613720G>A	uc003onu.1	-	12	3416	c.2237C>T	c.(2236-2238)CCG>CTG	p.P746L	MDGA1_uc003onv.1_Missense_Mutation_p.P15L	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	746					brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						TGAAAGGTTCGGAGAGTTGAT	0.547													A	37613720	G	A	37613720	3	1	65	1	0	0	0	0	1	0	0	0	9406	1116	39	1	654	1	MDGA1	6	37613720	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	667388	37613720	133501347	362	47188											
ZFAND3	60685	broad.mit.edu	37	chr6	38084410	38084410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactacttgagaatacggaaCggtccgaggaaaccagtcga	12	9	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:38084410C>T	uc003onx.2	+	5	839	c.424C>T	c.(424-426)CGG>TGG	p.R142W		NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	142							DNA binding|zinc ion binding			ovary(1)	1						GAATACGGAACGGTCCGAGGA	0.498													T	38084410	C	T	38084410	3	4	65	1	0	0	0	0	1	0	0	0	17626	527	19	1	442	1	ZFAND3	6	38084410	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	470690	38084410	133030657	363	47189											
DAAM2	23500	broad.mit.edu	37	chr6	39869739	39869739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacttatgcaagctcaagCgcagccgcaagcgatcaggg	13	11	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:39869739C>T	uc003oow.2	+	25	3289	c.3133C>T	c.(3133-3135)CGC>TGC	p.R1045C	DAAM2_uc003oox.2_Missense_Mutation_p.R1044C	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	1045	DAD.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAAGCTCAAGCGCAGCCGCAA	0.612													T	39869739	C	T	39869739	3	4	65	1	0	0	0	0	1	0	0	0	4216	768	27	1	3224	1	DAAM2	6	39869739	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1785329	39869739	131245328	364	47190											
PGC	5225	broad.mit.edu	37	chr6	41712453	41712453	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaaagcggtacttccaAgcaggatcatacttgtgggt	10	10	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:41712453A>T	uc003ora.1	-	2	202	c.153T>A	c.(151-153)GCT>GCA	p.A51A		NM_002630	NP_002621	P20142	PEPC_HUMAN	progastricsin (pepsinogen C) precursor	51					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity				0	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GGTACTTCCAAGCAGGATCAT	0.537													T	41712453	A	T	41712453	2	4	65	1	0	0	0	0	0	0	0	1	11785	59	3	5		5	PGC	6	41712453	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	1842714	41712453	129402614	365	47191											
BYSL	705	broad.mit.edu	37	chr6	41900303	41900303	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtccagcgctacaaggcCgacttggccacagaccagaa	11	13	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:41900303C>T	uc003orl.2	+	7	1509	c.1173C>T	c.(1171-1173)GCC>GCT	p.A391A		NM_004053	NP_004044	Q13895	BYST_HUMAN	bystin	391					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus					0	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCTACAAGGCCGACTTGGCCA	0.592													T	41900303	C	T	41900303	2	4	65	1	0	0	0	0	0	0	0	1	1576	639	23	1		1	BYSL	6	41900303	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	187850	41900303	129214764	366	47192											
CUL9	23113	broad.mit.edu	37	chr6	43166460	43166460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttggagcgtgtgctgtgcCgtgagggcagccccggaggt	18	10	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:43166460C>T	uc003ouk.2	+	12	2992	c.2917C>T	c.(2917-2919)CGT>TGT	p.R973C	CUL9_uc003oul.2_Missense_Mutation_p.R973C|CUL9_uc010jyk.2_Missense_Mutation_p.R125C	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	973					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						TGTGCTGTGCCGTGAGGGCAG	0.642													T	43166460	C	T	43166460	3	4	65	1	0	0	0	0	1	0	0	0	4061	652	23	1	2959	1	CUL9	6	43166460	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1266157	43166460	127948607	367	47193											
TDRD6	221400	broad.mit.edu	37	chr6	46656498	46656498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgttcgctgctggagcgCtatctcacagcggccactgc	11	15	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:46656498C>T	uc003oyj.2	+	1	633	c.633C>T	c.(631-633)CGC>CGT	p.R211R	TDRD6_uc010jze.2_Silent_p.R205R	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	211					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			TGCTGGAGCGCTATCTCACAG	0.647													T	46656498	C	T	46656498	2	4	65	1	0	0	0	0	0	0	0	1	15731	784	28	2		2	TDRD6	6	46656498	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	3490038	46656498	124458569	368	47194											
TDRD6	221400	broad.mit.edu	37	chr6	46661523	46661523	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagagtgtgtcacaaaaggCgccatggagctatttacact	10	9	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:46661523C>T	uc003oyj.2	+	1	5658	c.5658C>T	c.(5656-5658)GGC>GGT	p.G1886G	TDRD6_uc010jze.2_Silent_p.G1880G	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1886					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			TCACAAAAGGCGCCATGGAGC	0.498													T	46661523	C	T	46661523	2	4	65	1	0	0	0	0	0	0	0	1	15731	755	27	1		1	TDRD6	6	46661523	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	5025	46661523	124453544	369	47195											
EFHC1	114327	broad.mit.edu	37	chr6	52329890	52329890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgtattgatgtgagcaagCgggaaccacctccagtaaaa	10	10	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:52329890C>T	uc003pap.3	+	6	1329	c.1114C>T	c.(1114-1116)CGG>TGG	p.R372W	EFHC1_uc011dwv.1_Missense_Mutation_p.R281W|EFHC1_uc011dww.1_Missense_Mutation_p.R353W	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	372						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)					TGTGAGCAAGCGGGAACCACC	0.353													T	52329890	C	T	52329890	3	4	65	1	0	0	0	0	1	0	0	0	4946	759	27	1	1146	1	EFHC1	6	52329890	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	5668367	52329890	118785177	370	47196											
ICK	22858	broad.mit.edu	37	chr6	52878462	52878462	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaatctgggctgctcaccgActgtggatgcttgttgtgga	14	8	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:52878462A>G	uc003pbh.2	-	10	1640	c.1150T>C	c.(1150-1152)TCG>CCG	p.S384P	ICK_uc003pbi.2_Missense_Mutation_p.S384P	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	intestinal cell kinase	384					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5	Lung NSC(77;0.103)					CTGCTCACCGACTGTGGATGC	0.493													G	52878462	A	G	52878462	3	3	65	1	0	0	0	0	1	0	0	0	7484	275	10	3	772	3	ICK	6	52878462	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	548572	52878462	118236605	371	47197											
PHIP	55023	broad.mit.edu	37	chr6	79752650	79752650	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatgcattttcatgtgctgAtacactgcagttggaacaag	9	7	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:79752650A>G	uc003pir.2	-	7	736	c.510T>C	c.(508-510)TAT>TAC	p.Y170Y	PHIP_uc011dyp.1_Silent_p.Y170Y	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	170					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCATGTGCTGATACACTGCAG	0.378													G	79752650	A	G	79752650	2	3	65	1	0	0	0	0	0	0	0	1	11842	340	12	3		3	PHIP	6	79752650	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	26874188	79752650	91362417	372	47198											
SNAP91	9892	broad.mit.edu	37	chr6	84417539	84417539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggtgctttttcttgggGcccattacttcatgagtagt	10	9	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:84417539G>A	uc011dze.1	-	2	425	c.108C>T	c.(106-108)GGC>GGT	p.G36G	SNAP91_uc003pkb.2_5'UTR|SNAP91_uc003pkc.2_Silent_p.G36G|SNAP91_uc003pkd.2_Silent_p.G36G|SNAP91_uc003pka.2_Silent_p.G36G|SNAP91_uc011dzf.1_5'UTR	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	36	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TTTTCTTGGGGCCCATTACTT	0.572													A	84417539	G	A	84417539	2	1	65	1	0	0	0	0	0	0	0	1	14833	1190	42	2		2	SNAP91	6	84417539	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	4664889	84417539	86697528	373	47199											
ZNF292	23036	broad.mit.edu	37	chr6	87970331	87970331	+	Frame_Shift_Del	DEL	A	A	-													agatgtggaaaggaaggaatAaaaatgcccaagaccaaacg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:87970330_87970330TA>T	uc003plm.4	+	7	7024	c.6983_6983TA>T	c.(6982-6984)atafs	p.I2328fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAGGAAGGAATAAAAATGCCC	0.368													-	87970331	A	-	87970331	7	5	65	1	0	1	0	1	0	0	0	0	17823	352	13	0	7014	0	ZNF292	6	87970331	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	3552792	87970331	83144736	374	47200											
C6orf165	154313	broad.mit.edu	37	chr6	88138405	88138405	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacgaaactattgtggttgGtgtcctcagtaatttattca	9	6	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:88138405G>T	uc003plv.2	+	9	1114	c.1022G>T	c.(1021-1023)GGT>GTT	p.G341V	C6orf165_uc003plw.2_Missense_Mutation_p.G153V|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.G341V	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	341										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		ATTGTGGTTGGTGTCCTCAGT	0.408													T	88138405	G	T	88138405	3	4	65	1	0	0	0	0	1	0	0	0	2341	1261	44	5	1052	5	C6orf165	6	88138405	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	168074	88138405	82976662	375	47201											
RRAGD	58528	broad.mit.edu	37	chr6	90097137	90097137	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaattgacaaaggagctGttggaaacatcttcccggca	10	8	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:90097137G>A	uc003pnd.3	-	2	604	c.321C>T	c.(319-321)AAC>AAT	p.N107N	RRAGD_uc010kcc.2_Intron	NM_021244	NP_067067	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	107					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			ovary(2)|central_nervous_system(1)	3		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CAAAGGAGCTGTTGGAAACAT	0.428													A	90097137	G	A	90097137	2	1	65	1	0	0	0	0	0	0	0	1	13675	1368	48	4		4	RRAGD	6	90097137	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1958732	90097137	81017930	376	47202											
MDN1	23195	broad.mit.edu	37	chr6	90461284	90461284	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctggataagccgacctccTtttggctctggaataggctg	11	11	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:90461284T>G	uc003pnn.1	-	23	3209	c.3093A>C	c.(3091-3093)AAA>AAC	p.K1031N	MDN1_uc003pno.1_Missense_Mutation_p.K450N	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1031					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCCGACCTCCTTTTGGCTCTG	0.458													G	90461284	T	G	90461284	3	3	65	1	0	0	0	0	1	0	0	0	9415	1606	56	5	14017	5	MDN1	6	90461284	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	364147	90461284	80653783	377	47203											
CASP8AP2	9994	broad.mit.edu	37	chr6	90573907	90573907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttaatggaccacagaatgGcaactggtgaaacaaactca	9	8	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:90573907G>A	uc003pnr.2	+	7	2675	c.2479G>A	c.(2479-2481)GCA>ACA	p.A827T	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.A827T|CASP8AP2_uc011dzz.1_Missense_Mutation_p.A827T	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	827					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CCACAGAATGGCAACTGGTGA	0.433													A	90573907	G	A	90573907	3	1	65	1	0	0	0	0	1	0	0	0	2678	1203	42	2	2501	2	CASP8AP2	6	90573907	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	112623	90573907	80541160	378	47204											
ASCC3	10973	broad.mit.edu	37	chr6	101077033	101077033	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atggatttcatatcaggagtCacatcccctgttagttcaat	7	9	4	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:101077033C>T	uc003pqk.2	-	27	4562	c.4233G>A	c.(4231-4233)GTG>GTA	p.V1411V		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1411	Helicase ATP-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TATCAGGAGTCACATCCCCTG	0.423													T	101077033	C	T	101077033	2	4	65	1	0	0	0	0	0	0	0	1	1033	813	29	4		4	ASCC3	6	101077033	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	10503126	101077033	70038034	379	47205											
NR2E1	7101	broad.mit.edu	37	chr6	108492665	108492665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcctgcgatttcaggccGcattttagatatcccctgca	7	13	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:108492665G>A	uc003psg.2	+	2	784	c.29G>A	c.(28-30)CGC>CAC	p.R10H		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	10					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		ATTTCAGGCCGCATTTTAGAT	0.363													A	108492665	G	A	108492665	3	1	65	1	0	0	0	0	1	0	0	0	10625	1087	38	1	35	1	NR2E1	6	108492665	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	7415632	108492665	62622402	380	47206											
AKD1	221264	broad.mit.edu	37	chr6	109850222	109850222	+	Frame_Shift_Del	DEL	T	T	-													aaaactacttacctccctccTttttttatctctctctaata							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:109850221_109850221CT>C	uc003ptn.2	-	28	3703	c.3626_3626AG>G	c.(3625-3627)aggfs	p.R1209fs	AKD1_uc011eat.1_Frame_Shift_Del_p.R288fs	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1209					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						TACCTCCCTCCTTTTTTTATC	0.378													-	109850222	T	-	109850222	7	5	65	1	0	1	0	1	0	0	0	0	460	1608	56	0	2162	0	AKD1	6	109850222	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	1357557	109850222	61264845	381	47207											
AKD1	221264	broad.mit.edu	37	chr6	109867151	109867151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgtttggcagcttgctcGttctcagaatcttcctcaaa	7	11	4	1	rs151316525		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:109867151G>A	uc003ptn.2	-	26	3221	c.3144C>T	c.(3142-3144)AAC>AAT	p.N1048N	AKD1_uc011eat.1_Silent_p.N127N	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1048					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						CAGCTTGCTCGTTCTCAGAAT	0.348													A	109867151	G	A	109867151	2	1	65	1	0	0	0	0	0	0	0	1	460	1136	40	1		1	AKD1	6	109867151	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	16929	109867151	61247916	382	47208											
SLC16A10	117247	broad.mit.edu	37	chr6	111409136	111409136	+	Frame_Shift_Del	DEL	C	C	-													cgaccgcggagccccatgagCcccccgaaccccccgagggc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:111409135_111409135GC>G	uc003pus.3	+	0	355	c.180_180GC>G	c.(178-180)gagfs	p.E60fs	SLC16A10_uc003pur.4_Frame_Shift_Del_p.E60fs	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	Homo sapiens solute carrier family 16, member 10 (aromatic amino acid transporter) (SLC16A10), mRNA.	60					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		AGCCCCATGAGCCCCCCGAAC	0.756													-	111409136	C	-	111409136	7	5	65	1	0	1	0	1	0	0	0	0	14403	739	26	0	183	0	SLC16A10	6	111409136	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	1541985	111409136	59705931	383	47209											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111896928	111896928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaggcacagcagctggggaCggaggctggggaacctgtgg	19	9	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:111896928C>T	uc011ebc.1	-	5	1734	c.1119G>A	c.(1117-1119)CCG>CCA	p.P373P	TRAF3IP2_uc003pvd.2_5'Flank|TRAF3IP2_uc003pvg.2_Silent_p.P373P|TRAF3IP2_uc003pvf.2_Silent_p.P373P|TRAF3IP2_uc010kdw.2_Silent_p.P373P|TRAF3IP2_uc010kdx.2_Silent_p.P373P	NM_147686	NP_679211	O43734	CIKS_HUMAN	TRAF3 interacting protein 2 isoform 2	382					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				ovary(2)|central_nervous_system(1)	3		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CAGCTGGGGACGGAGGCTGGG	0.557													T	111896928	C	T	111896928	2	4	65	1	0	0	0	0	0	0	0	1	16438	523	19	1		1	TRAF3IP2	6	111896928	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	487792	111896928	59218139	384	47210											
NUS1	116150	broad.mit.edu	37	chr6	118015303	118015303	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagcccagaagcaaaagagAcccacagatttggatgtaga	11	8	0	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:118015303A>G	uc003pxw.2	+	3	868	c.651A>G	c.(649-651)AGA>AGG	p.R217R		NM_138459	NP_612468	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1	217	Cytoplasmic (Potential).				angiogenesis|cell differentiation	integral to membrane	receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups			central_nervous_system(1)	1		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		AGCAAAAGAGACCCACAGATT	0.333													G	118015303	A	G	118015303	2	3	65	1	0	0	0	0	0	0	0	1	10777	272	10	3		3	NUS1	6	118015303	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	6118375	118015303	53099764	385	47211											
C6orf174	387104	broad.mit.edu	37	chr6	127796990	127796990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatgttggacataagcacGcggttctcgtactgcagctg	12	10	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:127796990G>A	uc003qbd.2	-	6	3046	c.2181C>T	c.(2179-2181)CGC>CGT	p.R727R	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	727						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		ACATAAGCACGCGGTTCTCGT	0.667													A	127796990	G	A	127796990	2	1	65	1	0	0	0	0	0	0	0	1	2345	1074	38	1		1	C6orf174	6	127796990	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	9781687	127796990	43318077	386	47212											
MYB	4602	broad.mit.edu	37	chr6	135518338	135518338	+	Frame_Shift_Del	DEL	A	A	-													attccactggtcatccttcgAaaaaaacggggccaggccag							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:135518337_135518337GA>G	uc003qfh.3	+	9	1641	c.1442_1442GA>G	c.(1441-1443)cgafs	p.R481fs	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Intron|MYB_uc003qfk.3_Intron|MYB_uc003qfc.3_Intron|MYB_uc003qfr.3_Intron|MYB_uc003qft.3_Intron|MYB_uc003qfs.3_Intron|MYB_uc003qfw.3_Intron|MYB_uc010kgi.3_Intron|MYB_uc003qfq.3_Frame_Shift_Del_p.R478fs|MYB_uc010kgj.3_Intron|MYB_uc003qfo.3_Intron|MYB_uc003qfu.3_Intron|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Intron|MYB_uc003qfv.3_Intron|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Intron|MYB_uc003qga.3_Intron|MYB_uc003qgb.3_Intron|MYB_uc010kgk.3_Intron|MYB_uc003qfd.3_Intron|MYB_uc003qfi.3_Frame_Shift_Del_p.R465fs|MYB_uc003qfe.3_Intron|MYB_uc003qfg.3_Intron|MYB_uc003qff.3_Intron|MYB_uc003qfj.3_Intron|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Intron|MYB_uc003qfb.1_Intron|MYB_uc003qge.1_Non-coding_Transcript	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	449					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GTCATCCTTCGAAAAAAACGG	0.522			T	NFIB	adenoid cystic carcinoma								-	135518338	A	-	135518338	7	5	65	1	0	1	0	1	0	0	0	0	10007	233	9	0	1481	0	MYB	6	135518338	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	7721348	135518338	35596729	387	47213											
HIVEP2	3097	broad.mit.edu	37	chr6	143082659	143082660	+	Frame_Shift_Ins	INS	-	-	T													agactcccaattccaggcatINStttttcatgtgtgctttaga							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:143082658_143082659A>AT	uc003qjd.3	-	7	6305_6306	c.5562_5563T>AT	c.(5560-5565)aaatgcfs	p.K1854fs		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1854					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AATTCCAGGCATTTTTTCATGT	0.356													T	143082660	-	T	143082659	7	5	65	1	0	1	1	0	0	0	0	0	7187	1490	52	0	1790	0	HIVEP2	6	143082659	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	7564321	143082659	28032408	388	47214											
HIVEP2	3097	broad.mit.edu	37	chr6	143091558	143091558	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggctggagaaagcattcGcttgctacctcccagggtgg	13	11	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:143091558G>A	uc003qjd.2	-	5	5061	c.4318C>T	c.(4318-4320)CGA>TGA	p.R1440*		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAAAGCATTCGCTTGCTACCT	0.517													A	143091558	G	A	143091558	4	1	65	1	0	0	0	0	0	1	0	0	7187	1095	38	1	3046	1	HIVEP2	6	143091558	Nonsense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	8899	143091558	28023509	389	47215											
SYNE1	23345	broad.mit.edu	37	chr6	152671800	152671800	+	Frame_Shift_Del	DEL	T	T	-													atcactttgaagttgatctaTtttgtcctttaaagtgacgt							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:152671799_152671799AT>A	uc021zhb.1	-	68	11910	c.11687_11687AT>T	c.(11686-11688)atafs	p.I3896fs	SYNE1_uc003qot.4_Frame_Shift_Del_p.I3881fs|SYNE1_uc003qou.4_Frame_Shift_Del_p.I3896fs|SYNE1_uc010kja.2_Frame_Shift_Del_p.I601fs	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3896					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGTTGATCTATTTTGTCCTT	0.443										HNSCC(10;0.0054)			-	152671800	T	-	152671800	7	5	65	1	0	1	0	1	0	0	0	0	15442	1493	52	0	15084	0	SYNE1	6	152671800	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	9580242	152671800	18443267	390	47216											
TIAM2	26230	broad.mit.edu	37	chr6	155574136	155574136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttggacccatttaaattcCgctggttgatccccatctcc	6	14	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:155574136C>T	uc003qqb.2	+	26	5447	c.4174C>T	c.(4174-4176)CGC>TGC	p.R1392C	TIAM2_uc003qqe.2_Missense_Mutation_p.R1392C|TIAM2_uc010kjj.2_Missense_Mutation_p.R954C|TIAM2_uc003qqf.2_Missense_Mutation_p.R768C|TIAM2_uc011efl.1_Missense_Mutation_p.R728C|TIAM2_uc003qqg.2_Missense_Mutation_p.R704C|TIAM2_uc003qqh.2_Missense_Mutation_p.R317C	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1392	PH 2.				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)		ATTTAAATTCCGCTGGTTGAT	0.488													T	155574136	C	T	155574136	3	4	65	1	0	0	0	0	1	0	0	0	15888	652	23	1	4256	1	TIAM2	6	155574136	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2902336	155574136	15540931	391	47217											
TFB1M	51106	broad.mit.edu	37	chr6	155581523	155581523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggagtgaagtgcaccacGcccacgtccaccttcgttgt	11	13	0	1	rs149796947	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:155581523G>A	uc003qqj.3	-	6	742	c.678C>T	c.(676-678)GGC>GGT	p.G226G	TFB1M_uc003qqk.2_Intron	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			skin(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		AGTGCACCACGCCCACGTCCA	0.438													A	155581523	G	A	155581523	2	1	65	1	0	0	0	0	0	0	0	1	15790	1074	38	1		1	TFB1M	6	155581523	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	7387	155581523	15533544	392	47218											
ARID1B	57492	broad.mit.edu	37	chr6	157527817	157527817	+	Frame_Shift_Del	DEL	C	C	-													ctcctcgcaggcgcccacctCcccccttaagctccgcaggt					rs35441529		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:157527816_157527816TC>T	uc003qqp.3	+	18	5502	c.5502_5502TC>T	c.(5500-5502)cctfs	p.P1834fs	ARID1B_uc003qqo.3_Frame_Shift_Del_p.P1847fs|ARID1B_uc003qqn.3_Frame_Shift_Del_p.P1887fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1834	Poly-Pro.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGCGCCCACCTCCCCCCTTAA	0.557													-	157527817	C	-	157527817	7	5	65	1	0	1	0	1	0	0	0	0	914	855	30	0	5620	0	ARID1B	6	157527817	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	1946294	157527817	13587250	393	47219											
SYNJ2	8871	broad.mit.edu	37	chr6	158508009	158508010	+	Frame_Shift_Ins	INS	-	-	C													acctcaacccccgcagagacINSccccccctccaagtaagact							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:158508008_158508009A>AC	uc003qqx.2	+	22	3436_3437	c.3330_3331A>AC	c.(3328-3333)agacccfs	p.R1110fs	SYNJ2_uc003qqw.2_Frame_Shift_Ins_p.R1110fs|SYNJ2_uc003qqy.2_Frame_Shift_Ins_p.R873fs|SYNJ2_uc003qqz.2_Frame_Shift_Ins_p.R727fs|SYNJ2_uc003qra.2_Frame_Shift_Ins_p.R453fs	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1110	Pro-rich.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	p.P1113fs*5(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCCCGCAGAGACCCCCCCCTCC	0.634													C	158508010	-	C	158508009	7	5	65	1	0	1	1	0	0	0	0	0	15450	507	18	0	3421	0	SYNJ2	6	158508009	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	980192	158508009	12607058	394	47220											
TULP4	56995	broad.mit.edu	37	chr6	158924563	158924564	+	Frame_Shift_Ins	INS	-	-	C													acacttggtggtggagaagcINScccttgtgtccccaccacct							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:158924562_158924563G>GC	uc003qrf.3	+	12	5224_5225	c.3867_3868G>GC	c.(3865-3870)aagcccfs	p.K1289fs	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	1289					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.E1288D(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TGGTGGAGAAGCCCCTTGTGTC	0.614													C	158924564	-	C	158924563	7	5	65	1	0	1	1	0	0	0	0	0	16773	739	26	0	3918	0	TULP4	6	158924563	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	416554	158924563	12190504	395	47221											
SMOC2	64094	broad.mit.edu	37	chr6	168999659	168999659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcctggtggacacggggCgccccattcccggcacatcc	13	17	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:168999659C>T	uc003qws.1	+	8	819	c.799C>T	c.(799-801)CGC>TGC	p.R267C	SMOC2_uc003qwr.1_Missense_Mutation_p.R278C	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	267	Thyroglobulin type-1 2.				signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		GGACACGGGGCGCCCCATTCC	0.652													T	168999659	C	T	168999659	3	4	65	1	0	0	0	0	1	0	0	0	14802	768	27	1	862	1	SMOC2	6	168999659	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	10075096	168999659	2115408	396	47222											
PRKAR1B	5575	broad.mit.edu	37	chr7	618981	618981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgggctccagcgcatccGccacggtcagacgctcccac	12	18	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:618981G>A	uc003siu.1	-	10	909	c.803C>T	c.(802-804)GCG>GTG	p.A268V	PRKAR1B_uc003siv.2_Missense_Mutation_p.A268V|PRKAR1B_uc003siw.1_Missense_Mutation_p.A268V|PRKAR1B_uc003six.1_RNA	NM_002735	NP_002726	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type	268	cAMP 2.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity				0		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CAGCGCATCCGCCACGGTCAG	0.607													A	618981	G	A	618981	3	1	65	1	0	0	0	0	1	0	0	0	12504	1087	38	1	354	1	PRKAR1B	7	618981	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08		618981	158519682	397	47223											
INTS1	26173	broad.mit.edu	37	chr7	1523451	1523451	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatggtggctgtctccccGctgctccagcgtaggaagac	13	13	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:1523451G>A	uc003skn.2	-	26	3569	c.3468C>T	c.(3466-3468)AGC>AGT	p.S1156S	INTS1_uc003skp.1_Silent_p.S503S	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1156					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTGTCTCCCCGCTGCTCCAGC	0.662													A	1523451	G	A	1523451	2	1	65	1	0	0	0	0	0	0	0	1	7775	1078	38	1		1	INTS1	7	1523451	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	904470	1523451	157615212	398	47224											
TMEM184A	202915	broad.mit.edu	37	chr7	1590549	1590549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgaaggcgtagatgggcaCgatgaggagcaggcggatga	19	6	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:1590549C>T	uc003skv.3	-	3	606	c.289G>A	c.(289-291)GTG>ATG	p.V97M	TMEM184A_uc003skt.3_Translation_Start_Site|TMEM184A_uc003skw.3_Translation_Start_Site	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	97	Helical; (Potential).					integral to membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		TAGATGGGCACGATGAGGAGC	0.612													T	1590549	C	T	1590549	3	4	65	1	0	0	0	0	1	0	0	0	16101	536	19	1	980	1	TMEM184A	7	1590549	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	67098	1590549	157548114	399	47225											
AMZ1	155185	broad.mit.edu	37	chr7	2752350	2752350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgggagatgttcacgggCcagctcccggccaccaggca	14	15	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:2752350C>T	uc003smr.1	+	7	1696	c.1335C>T	c.(1333-1335)GGC>GGT	p.G445G	AMZ1_uc003sms.1_3'UTR|AMZ1_uc011jwa.1_Silent_p.G194G	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	445							metallopeptidase activity|zinc ion binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		TGTTCACGGGCCAGCTCCCGG	0.677													T	2752350	C	T	2752350	2	4	65	1	0	0	0	0	0	0	0	1	596	726	26	2		2	AMZ1	7	2752350	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1161801	2752350	156386313	400	47226											
SDK1	221935	broad.mit.edu	37	chr7	4201429	4201429	+	Frame_Shift_Del	DEL	C	C	-													gtgtttcagttccaggagagCccccgggatctgtctcagcg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:4201428_4201428GC>G	uc003smx.3	+	31	4879	c.4740_4740GC>G	c.(4738-4740)gagfs	p.E1580fs	SDK1_uc010kso.3_Frame_Shift_Del_p.E856fs|SDK1_uc003smy.3_Frame_Shift_Del_p.E67fs	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1580	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TTCCAGGAGAGCCCCCGGGAT	0.592													-	4201429	C	-	4201429	7	5	65	1	0	1	0	1	0	0	0	0	13968	739	26	0	4867	0	SDK1	7	4201429	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	1449079	4201429	154937234	401	47227											
PMS2	5395	broad.mit.edu	37	chr7	6026895	6026895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaacccctcagaatccaCggaagtgctgccgtgccccg	11	16	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:6026895C>T	uc003spl.2	-	11	1588	c.1501G>A	c.(1501-1503)GTG>ATG	p.V501M	PMS2_uc003spj.2_Missense_Mutation_p.V395M|PMS2_uc003spk.2_Missense_Mutation_p.V366M|PMS2_uc011jwl.1_Missense_Mutation_p.V366M|PMS2_uc010ktg.2_Missense_Mutation_p.V190M|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Missense_Mutation_p.V501M	NM_000535	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 isoform	501					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TCAGAATCCACGGAAGTGCTG	0.627			Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				T	6026895	C	T	6026895	3	4	65	1	0	0	0	0	1	0	0	0	12143	536	19	1	1107	1	PMS2	7	6026895	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1825466	6026895	153111768	402	47228											
PMS2	5395	broad.mit.edu	37	chr7	6042145	6042145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggaaaataactgctgcAcgctgactgtggtccctctg	12	10	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:6042145A>G	uc003spl.2	-	5	563	c.476T>C	c.(475-477)GTG>GCG	p.V159A	PMS2_uc003spj.2_Missense_Mutation_p.V53A|PMS2_uc003spk.2_Missense_Mutation_p.V24A|PMS2_uc011jwl.1_Missense_Mutation_p.V24A|PMS2_uc010ktg.2_5'UTR|PMS2_uc010kte.2_Missense_Mutation_p.V159A|PMS2_uc010ktf.1_Missense_Mutation_p.V159A	NM_000535	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 isoform	159					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TAACTGCTGCACGCTGACTGT	0.453			Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				G	6042145	A	G	6042145	3	3	65	1	0	0	0	0	1	0	0	0	12143	159	6	3	2156	3	PMS2	7	6042145	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	15250	6042145	153096518	403	47229											
THSD7A	221981	broad.mit.edu	37	chr7	11441596	11441596	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccttcaaataacagtcacCtgtaaaacacatatttgtaa	4	9	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:11441596C>A	uc003ssf.3	-	22	4490	c.4238_splice	c.e22-1	p.G1413_splice		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A							integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TAACAGTCACCTGTAAAACAC	0.443										HNSCC(18;0.044)			A	11441596	C	A	11441596	5	1	65	1	0	0	0	0	0	0	1	0	15876	695	24	5	760	5	THSD7A	7	11441596	Splice_Site	SNP	C	TCGA-BR-8081-01A-11D-2340-08	5399451	11441596	147697067	404	47230											
OSBPL3	26031	broad.mit.edu	37	chr7	24874117	24874117	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcaccatcctttccagGgggctgggaatctgcgcggc	12	15	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:24874117G>T	uc003sxf.2	-	15	2139	c.1734C>A	c.(1732-1734)CCC>CCA	p.P578P	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Silent_p.P542P|OSBPL3_uc003sxh.2_Silent_p.P547P|OSBPL3_uc003sxi.2_Silent_p.P511P|OSBPL3_uc003sxj.1_Silent_p.P307P|OSBPL3_uc003sxk.1_Silent_p.P276P	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	578					lipid transport		lipid binding|protein binding			skin(1)	1						TCCTTTCCAGGGGGCTGGGAA	0.647													T	24874117	G	T	24874117	2	4	65	1	0	0	0	0	0	0	0	1	11279	1219	43	5		5	OSBPL3	7	24874117	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	13432521	24874117	134264546	405	47231											
CCDC129	223075	broad.mit.edu	37	chr7	31690787	31690787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagatggaagccatgaagaCgatatgccaaagtttccggg	13	7	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:31690787C>T	uc003tcj.1	+	12	3608	c.2615C>T	c.(2614-2616)ACG>ATG	p.T872M	CCDC129_uc011kad.1_Missense_Mutation_p.T882M|CCDC129_uc003tci.1_Missense_Mutation_p.T723M|CCDC129_uc011kae.1_Missense_Mutation_p.T898M|CCDC129_uc003tck.1_Missense_Mutation_p.T780M	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	872											0						GCCATGAAGACGATATGCCAA	0.468													T	31690787	C	T	31690787	3	4	65	1	0	0	0	0	1	0	0	0	2764	536	19	1	2657	1	CCDC129	7	31690787	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	6816670	31690787	127447876	406	47232											
EPDR1	54749	broad.mit.edu	37	chr7	37960699	37960699	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgggaggggcgccaggTtatgtaccagcaaagtagcg	17	8	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:37960699T>C	uc003tfp.2	+	1	537	c.518T>C	c.(517-519)GTT>GCT	p.V173A	EPDR1_uc003tfq.2_Missense_Mutation_p.V173A|EPDR1_uc010kxh.2_5'Flank	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	53					cell-matrix adhesion	extracellular region	calcium ion binding			upper_aerodigestive_tract(1)	1						GGGCGCCAGGTTATGTACCAG	0.726													C	37960699	T	C	37960699	3	2	65	1	0	0	0	0	1	0	0	0	5163	1725	60	3	520	3	EPDR1	7	37960699	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	6269912	37960699	121177964	407	47233											
AEBP1	165	broad.mit.edu	37	chr7	44153500	44153500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcggctgcggcgcctcaaCgccaccaccaccctaggccc	10	20	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:44153500C>T	uc003tkb.2	+	21	3422	c.3117C>T	c.(3115-3117)AAC>AAT	p.N1039N	AEBP1_uc003tkc.3_Silent_p.N614N|AEBP1_uc003tkd.2_Silent_p.N289N	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	1039	Required for transcriptional repression (By similarity).|Interaction with MAPK1 and MAPK3 (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GGCGCCTCAACGCCACCACCA	0.697													T	44153500	C	T	44153500	2	4	65	1	0	0	0	0	0	0	0	1	349	535	19	1		1	AEBP1	7	44153500	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	6192801	44153500	114985163	408	47234											
ADCY1	107	broad.mit.edu	37	chr7	45632428	45632428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcggattctgactgagcGttcacagaggaaggcgttcc	14	9	2	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:45632428G>A	uc003tne.3	+	2	728	c.710G>A	c.(709-711)CGT>CAT	p.R237H	ADCY1_uc003tnd.2_Missense_Mutation_p.R12H	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	237	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTGACTGAGCGTTCACAGAGG	0.577													A	45632428	G	A	45632428	3	1	65	1	0	0	0	0	1	0	0	0	292	1145	40	1	716	1	ADCY1	7	45632428	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1478928	45632428	113506235	409	47235											
ADCY1	107	broad.mit.edu	37	chr7	45742987	45742987	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccccaggcagaggaggagCgagaggacatggagaaggtg	18	7	0	3	rs61738404		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:45742987C>T	uc003tne.3	+	15	2485	c.2467C>T	c.(2467-2469)CGA>TGA	p.R823*		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	823	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGAGGAGGAGCGAGAGGACAT	0.567													T	45742987	C	T	45742987	4	4	65	1	0	0	0	0	0	1	0	0	292	760	27	1	2525	1	ADCY1	7	45742987	Nonsense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	110559	45742987	113395676	410	47236											
PKD1L1	168507	broad.mit.edu	37	chr7	47851593	47851593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacagacacagccctggtgCtgcggtcaatccacatgctg	11	14	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:47851593C>T	uc003tny.1	-	50	7403	c.7403G>A	c.(7402-7404)AGC>AAC	p.S2468N	C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Missense_Mutation_p.S195N	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2468	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						AGCCCTGGTGCTGCGGTCAAT	0.587													T	47851593	C	T	47851593	3	4	65	1	0	0	0	0	1	0	0	0	11964	797	28	2	1178	2	PKD1L1	7	47851593	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2108606	47851593	111287070	411	47237											
PKD1L1	168507	broad.mit.edu	37	chr7	47944773	47944773	+	Frame_Shift_Del	DEL	T	T	-													ccattgggggatgctgagtcTttttttaatgcttcttgaag							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:47944772_47944772CT>C	uc003tny.2	-	10	1707	c.1673_1673AG>G	c.(1672-1674)agafs	p.R558fs		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	558	PKD 1.				cell-cell adhesion	integral to membrane		p.R558fs*10(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GATGCTGAGTCTTTTTTTAAT	0.443													-	47944773	T	-	47944773	7	5	65	1	0	1	0	1	0	0	0	0	11964	1617	56	0	7065	0	PKD1L1	7	47944773	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	93180	47944773	111193890	412	47238											
ZNF713	349075	broad.mit.edu	37	chr7	56007543	56007543	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcaacatgaaagaactcaTacaggagagaaaccctataa	6	8	2	3	rs113149662		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:56007543T>C	uc003trc.1	+	4	1175	c.1137T>C	c.(1135-1137)CAT>CAC	p.H379H	ZNF713_uc003tra.1_Silent_p.H392H|MRPS17_uc003trb.2_Intron	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	zinc finger protein 713	379	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AAAGAACTCATACAGGAGAGA	0.413													C	56007543	T	C	56007543	2	2	65	1	0	0	0	0	0	0	0	1	18114	1403	49	3		3	ZNF713	7	56007543	Silent	SNP	T	TCGA-BR-8081-01A-11D-2340-08	8062770	56007543	103131120	413	47239											
POM121	9883	broad.mit.edu	37	chr7	72409181	72409181	+	Frame_Shift_Del	DEL	C	C	-													cttctctagcccagcctcctCccgctcccagacaccggaga							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:72409180_72409180TC>T	uc003twk.2	+	5	1327	c.1327_1327TC>T	c.(1327-1329)tccfs	p.S443fs	POM121_uc003twj.3_Frame_Shift_Del_p.S178fs|POM121_uc010lam.1_Frame_Shift_Del_p.S178fs	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	443	Pore side (Potential).|Ser-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCCAGCCTCCTCCCGCTCCCA	0.527													-	72409181	C	-	72409181	7	5	65	1	0	1	0	1	0	0	0	0	12239	855	30	0	551	0	POM121	7	72409181	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	16401638	72409181	86729482	414	47240											
ABHD11	83451	broad.mit.edu	37	chr7	73153053	73153053	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaagctagggccgtggggGccgagtccctcacgcgggag	19	12	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:73153053G>A	uc003tzb.2	-	1	132	c.75C>T	c.(73-75)GGC>GGT	p.G25G	RFC2_uc011kfa.1_Intron|ABHD11_uc011kfb.1_Silent_p.G25G|ABHD11_uc003tzc.2_Silent_p.G25G|ABHD11_uc003tza.2_5'UTR|ABHD11_uc003tzf.2_Silent_p.G25G|ABHD11_uc011kfc.1_Silent_p.G25G	NM_148912	NP_683710	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11 isoform 1	25							hydrolase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGCCGTGGGGGCCGAGTCCCT	0.692													A	73153053	G	A	73153053	2	1	65	1	0	0	0	0	0	0	0	1	75	1190	42	2		2	ABHD11	7	73153053	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	743872	73153053	85985610	415	47241											
WBSCR28	135886	broad.mit.edu	37	chr7	73280112	73280112	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggttgaaccccaggaggTctcagggtcttccttgctgc	14	11	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:73280112T>C	uc003tzk.2	+	3	743	c.707T>C	c.(706-708)GTC>GCC	p.V236A	RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_Missense_Mutation_p.V135A	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	hypothetical protein LOC135886	236						integral to membrane				breast(1)	1		Lung NSC(55;0.159)				CCCCAGGAGGTCTCAGGGTCT	0.592													C	73280112	T	C	73280112	3	2	65	1	0	0	0	0	1	0	0	0	17264	1667	58	3	717	3	WBSCR28	7	73280112	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	127059	73280112	85858551	416	47242											
CROT	54677	broad.mit.edu	37	chr7	86978480	86978480	+	Frame_Shift_Del	DEL	A	A	-													ccttcacttgaagaatcattAaaaaaataccttgaatcagg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:86978479_86978479TA>T	uc003uiu.3	+	2	340	c.95_95TA>T	c.(94-96)ttafs	p.L32fs	CROT_uc003uis.3_Frame_Shift_Del_p.L32fs|CROT_uc003uit.3_Frame_Shift_Del_p.L32fs	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	32					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GAAGAATCATTAAAAAAATAC	0.318													-	86978480	A	-	86978480	7	5	65	1	0	1	0	1	0	0	0	0	3894	359	13	0	98	0	CROT	7	86978480	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	13698368	86978480	72160183	417	47243											
ZNF804B	219578	broad.mit.edu	37	chr7	88963218	88963218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaattttgcaagacaaacacGactctattgatgagacacta	6	8	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:88963218G>A	uc011khi.1	+	4	1460	c.922G>A	c.(922-924)GAC>AAC	p.D308N		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	308						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGACAAACACGACTCTATTGA	0.358										HNSCC(36;0.09)			A	88963218	G	A	88963218	3	1	65	1	0	0	0	0	1	0	0	0	18168	1058	37	1	936	1	ZNF804B	7	88963218	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1984738	88963218	70175445	418	47244											
SAMD9	54809	broad.mit.edu	37	chr7	92733171	92733171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcccagagaatgtgcataGccaaggtagttcccccacag	10	12	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:92733171G>A	uc003umf.2	-	3	2496	c.2240C>T	c.(2239-2241)GCT>GTT	p.A747V	SAMD9_uc003umg.2_Missense_Mutation_p.A747V	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	747						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AATGTGCATAGCCAAGGTAGT	0.393													A	92733171	G	A	92733171	3	1	65	1	0	0	0	0	1	0	0	0	13826	971	34	2	2533	2	SAMD9	7	92733171	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	3769953	92733171	66405492	419	47245											
COL1A2	1278	broad.mit.edu	37	chr7	94041414	94041414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggaaatatcggccccgCtggaaaagaaggtcctgtcg	12	12	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:94041414C>T	uc003ung.1	+	24	1856	c.1385C>T	c.(1384-1386)GCT>GTT	p.A462V	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	462			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ATCGGCCCCGCTGGAAAAGAA	0.368										HNSCC(75;0.22)			T	94041414	C	T	94041414	3	4	65	1	0	0	0	0	1	0	0	0	3678	797	28	2	1479	2	COL1A2	7	94041414	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1308243	94041414	65097249	420	47246											
DYNC1I1	1780	broad.mit.edu	37	chr7	95499216	95499216	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaagactgcataaactgggCgtgtcaaaggtcacccaagt	11	9	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:95499216C>A	uc003uoc.3	+	6	724	c.447C>A	c.(445-447)GGC>GGA	p.G149G	DYNC1I1_uc003uod.3_Silent_p.G132G|DYNC1I1_uc003uob.2_Silent_p.G112G|DYNC1I1_uc003uoe.3_Silent_p.G129G|DYNC1I1_uc010lfl.2_Silent_p.G138G	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	149					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ATAAACTGGGCGTGTCAAAGG	0.453													A	95499216	C	A	95499216	2	1	65	1	0	0	0	0	0	0	0	1	4842	755	27	5		5	DYNC1I1	7	95499216	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1457802	95499216	63639447	421	47247											
TRRAP	8295	broad.mit.edu	37	chr7	98540640	98540640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagaggagcgacggaaaCgtgagtgacttgtttgtttc	15	7	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:98540640C>T	uc003upp.2	+	31	4682	c.4473C>T	c.(4471-4473)AAC>AAT	p.N1491N	TRRAP_uc011kis.1_Silent_p.N1491N|TRRAP_uc003upr.2_Silent_p.N1183N	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1491					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCGACGGAAACGTGAGTGACT	0.522													T	98540640	C	T	98540640	2	4	65	1	0	0	0	0	0	0	0	1	16598	550	19	1		1	TRRAP	7	98540640	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	3041424	98540640	60598023	422	47248											
TRRAP	8295	broad.mit.edu	37	chr7	98574288	98574288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctctggttccggtccacGctgatgttggagcaccaggc	12	13	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:98574288G>A	uc003upp.2	+	54	8330	c.8121G>A	c.(8119-8121)ACG>ACA	p.T2707T	TRRAP_uc011kis.1_Silent_p.T2689T|TRRAP_uc003upr.2_Silent_p.T2406T	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2707	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCGGTCCACGCTGATGTTGG	0.562													A	98574288	G	A	98574288	2	1	65	1	0	0	0	0	0	0	0	1	16598	1074	38	1		1	TRRAP	7	98574288	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	33648	98574288	60564375	423	47249											
SMURF1	57154	broad.mit.edu	37	chr7	98649848	98649848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtagccttcgggcagttccGgggactggtggccgtgtggt	18	10	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:98649848G>A	uc003upu.1	-	7	1021	c.701C>T	c.(700-702)CCG>CTG	p.P234L	SMURF1_uc003upv.1_Missense_Mutation_p.P234L|SMURF1_uc003upt.2_Missense_Mutation_p.P234L	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	234	WW 1.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GGGCAGTTCCGGGGACTGGTG	0.502													A	98649848	G	A	98649848	3	1	65	1	0	0	0	0	1	0	0	0	14819	1116	39	1	1624	1	SMURF1	7	98649848	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	75560	98649848	60488815	424	47250											
MUC17	140453	broad.mit.edu	37	chr7	100676090	100676090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcagcaccactccagtgGccagttctgaggctagcaac	10	14	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:100676090G>A	uc003uxp.1	+	3	1446	c.1393G>A	c.(1393-1395)GCC>ACC	p.A465T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	465	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|5.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTCCAGTGGCCAGTTCTGA	0.488													A	100676090	G	A	100676090	3	1	65	1	0	0	0	0	1	0	0	0	9974	1203	42	2	1403	2	MUC17	7	100676090	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2026242	100676090	58462573	425	47251											
CUX1	1523	broad.mit.edu	37	chr7	101840004	101840004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcagttgccccgcaaccCgggggagcaggcttccaata	11	14	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:101840004C>T	uc003uyx.3	+	15	1351	c.1313C>T	c.(1312-1314)CCG>CTG	p.P438L	CUX1_uc003uys.3_Missense_Mutation_p.P449L|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	438					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						CCCCGCAACCCGGGGGAGCAG	0.592													T	101840004	C	T	101840004	3	4	65	1	0	0	0	0	1	0	0	0	4064	652	23	1	1438	1	CUX1	7	101840004	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1163914	101840004	57298659	426	47252											
RELN	5649	broad.mit.edu	37	chr7	103179672	103179672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagtagagccacacacggGcatcttggtgcctcctgggt	12	13	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:103179672G>A	uc003vca.2	-	45	7193	c.7033C>T	c.(7033-7035)CCC>TCC	p.P2345S	RELN_uc010liz.2_Missense_Mutation_p.P2345S	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2345					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCACACACGGGCATCTTGGTG	0.493													A	103179672	G	A	103179672	3	1	65	1	0	0	0	0	1	0	0	0	13220	1203	42	2	3433	2	RELN	7	103179672	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1339668	103179672	55958991	427	47253											
PUS7	54517	broad.mit.edu	37	chr7	105135657	105135657	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccttatatagtacgaagtgGcagtaacttcccctagattt	7	9	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:105135657G>T	uc003vcx.2	-	6	993	c.774C>A	c.(772-774)TGC>TGA	p.C258*	PUS7_uc010lji.2_Nonsense_Mutation_p.C264*|PUS7_uc003vcy.2_Nonsense_Mutation_p.C258*|PUS7_uc003vcz.1_Nonsense_Mutation_p.C258*	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog	258					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1						GTACGAAGTGGCAGTAACTTC	0.318													T	105135657	G	T	105135657	4	4	65	1	0	0	0	0	0	1	0	0	12833	1195	42	5	1255	5	PUS7	7	105135657	Nonsense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1955985	105135657	54003006	428	47254											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432324	117432324	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattttctgtcactaggtctGtctggcatgcaacagacctt	8	11	4	1	rs151077142		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:117432324G>T	uc003vjf.2	-	4	1018	c.926C>A	c.(925-927)ACA>AAA	p.T309K		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	309										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CACTAGGTCTGTCTGGCATGC	0.453													T	117432324	G	T	117432324	3	4	65	1	0	0	0	0	1	0	0	0	4045	1377	48	5	4145	5	CTTNBP2	7	117432324	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	12296667	117432324	41706339	429	47255											
WNT16	51384	broad.mit.edu	37	chr7	120971879	120971879	+	Frame_Shift_Del	DEL	G	G	-													agcaagtgaaggctggcactGggggggctgctccgatgatg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:120971878_120971878TG>T	uc003vjw.3	+	2	750	c.493_493TG>T	c.(493-495)tggfs	p.W165fs	WNT16_uc003vjv.3_Frame_Shift_Del_p.W155fs|WNT16_uc010lkl.3_Intron	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA.	165					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	p.C168fs*4(2)|p.H164P(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					AGGCTGGCACTGGGGGGGCTG	0.537													-	120971879	G	-	120971879	7	5	65	1	0	1	0	1	0	0	0	0	17382	1357	47	0	573	0	WNT16	7	120971879	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	3539555	120971879	38166784	430	47256											
AASS	10157	broad.mit.edu	37	chr7	121755182	121755182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgagaacttgcccggaGccaggagactctgagcatct	13	11	2	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:121755182G>A	uc003vka.2	-	8	1085	c.989C>T	c.(988-990)GCT>GTT	p.A330V	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.A330V|AASS_uc011knw.1_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	330	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTTGCCCGGAGCCAGGAGACT	0.488													A	121755182	G	A	121755182	3	1	65	1	0	0	0	0	1	0	0	0	24	971	34	2	1855	2	AASS	7	121755182	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	783303	121755182	37383481	431	47257											
WASL	8976	broad.mit.edu	37	chr7	123332485	123332486	+	Frame_Shift_Ins	INS	-	-	T													gccgactgttctgctccactINSttttttagctgagcaccctc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:123332484_123332485C>CT	uc003vkz.3	-	8	1591_1592	c.1263_1264G>AG	c.(1261-1266)aaagtgfs	p.K421fs		NM_003941	NP_003932	O00401	WASL_HUMAN	Homo sapiens Wiskott-Aldrich syndrome-like (WASL), mRNA.	421	WH2 1.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCTGCTCCACTTTTTTTAGCT	0.47													T	123332486	-	T	123332485	7	5	65	1	0	1	1	0	0	0	0	0	17253	1606	56	0	266	0	WASL	7	123332485	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	1577303	123332485	35806178	432	47258											
ZNF800	168850	broad.mit.edu	37	chr7	127014561	127014561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactagaacattcttactgcGtcctttagaggattggtttg	9	7	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:127014561G>A	uc003vlx.1	-	5	1092	c.829C>T	c.(829-831)CGC>TGC	p.R277C	ZNF800_uc003vlw.1_Missense_Mutation_p.R180C|ZNF800_uc003vly.1_Missense_Mutation_p.R277C|ZNF800_uc010lla.2_Missense_Mutation_p.R277C	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	zinc finger protein 800	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTCTTACTGCGTCCTTTAGAG	0.368													A	127014561	G	A	127014561	3	1	65	1	0	0	0	0	1	0	0	0	18166	1145	40	1	1173	1	ZNF800	7	127014561	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	3682076	127014561	32124102	433	47259											
FAM40B	57464	broad.mit.edu	37	chr7	129096467	129096467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctccaagctgcgaggccGccgtggctctcgaagggtat	13	14	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:129096467G>A	uc011koy.1	+	9	1062	c.1022G>A	c.(1021-1023)CGC>CAC	p.R341H	FAM40B_uc003vow.2_Missense_Mutation_p.R341H|FAM40B_uc011koz.1_5'Flank	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	341											0						CTGCGAGGCCGCCGTGGCTCT	0.562													A	129096467	G	A	129096467	3	1	65	1	0	0	0	0	1	0	0	0	5561	1087	38	1	1056	1	FAM40B	7	129096467	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2081906	129096467	30042196	434	47260											
AKR1B15	441282	broad.mit.edu	37	chr7	134254170	134254170	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacactctttgcaggtgtgGcccactttctttgagagacc	9	12	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:134254170G>A	uc011kpr.1	+	5	623	c.324G>A	c.(322-324)TGG>TGA	p.W108*	AKR1B15_uc003vrt.2_Nonsense_Mutation_p.W80*|AKR1B15_uc011kps.1_Nonsense_Mutation_p.W80*	NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	108							oxidoreductase activity			ovary(1)	1						TGCAGGTGTGGCCCACTTTCT	0.463													A	134254170	G	A	134254170	4	1	65	1	0	0	0	0	0	1	0	0	468	1212	42	2	334	2	AKR1B15	7	134254170	Nonsense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	5157703	134254170	24884493	435	47261											
KIAA1549	57670	broad.mit.edu	37	chr7	138552754	138552754	+	Frame_Shift_Del	DEL	G	G	-													taggctgagttgtggacgccGgggggcctcctgtaggtgcc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:138552753_138552753CG>C	uc011kql.2	-	14	4946	c.4897_4897CG>G	c.(4897-4899)ggcfs	p.G1633fs	KIAA1549_uc011kqi.2_Frame_Shift_Del_p.G417fs|KIAA1549_uc011kqk.2_Frame_Shift_Del_p.G417fs|KIAA1549_uc011kqj.2_Frame_Shift_Del_p.G1633fs	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1633						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TTGTGGACGCCGGGGGGCCTC	0.632			O	BRAF	pilocytic astrocytoma								-	138552754	G	-	138552754	7	5	65	1	0	1	0	1	0	0	0	0	8244	1103	39	0	980	0	KIAA1549	7	138552754	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	4298584	138552754	20585909	436	47262											
KIAA1549	57670	broad.mit.edu	37	chr7	138566238	138566238	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagaggtcctggcagtggCgctggctcatgaataatcaa	12	9	3	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:138566238C>T	uc011kql.1	-	11	4174	c.4125G>A	c.(4123-4125)GCG>GCA	p.A1375A	KIAA1549_uc011kqi.1_Silent_p.A159A|KIAA1549_uc003vuk.3_Silent_p.A1325A|KIAA1549_uc011kqj.1_Silent_p.A1375A|KIAA1549_uc011kqk.1_Silent_p.A159A	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1375						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						CTGGCAGTGGCGCTGGCTCAT	0.507			O	BRAF	pilocytic astrocytoma								T	138566238	C	T	138566238	2	4	65	1	0	0	0	0	0	0	0	1	8244	755	27	1		1	KIAA1549	7	138566238	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	13484	138566238	20572425	437	47263											
KIAA1549	57670	broad.mit.edu	37	chr7	138603140	138603140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtctgaatgaggacaccGggctcaggatatgagtgttg	15	6	2	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:138603140G>A	uc011kql.1	-	2	1281	c.1232C>T	c.(1231-1233)CCG>CTG	p.P411L	KIAA1549_uc003vuk.3_Missense_Mutation_p.P361L|KIAA1549_uc011kqj.1_Missense_Mutation_p.P411L	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	411						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						TGAGGACACCGGGCTCAGGAT	0.542			O	BRAF	pilocytic astrocytoma								A	138603140	G	A	138603140	3	1	65	1	0	0	0	0	1	0	0	0	8244	1116	39	1	4696	1	KIAA1549	7	138603140	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	36902	138603140	20535523	438	47264											
RAB19	401409	broad.mit.edu	37	chr7	140107546	140107546	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtggggaagacgtgtgtgGtgcagcatttcaagtctgga	16	5	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:140107546G>T	uc010lni.2	+	2	298	c.100G>T	c.(100-102)GTG>TTG	p.V34L	RAB19_uc011krc.1_Missense_Mutation_p.V34L	NM_001008749	NP_001008749	A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	34					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0	Melanoma(164;0.0142)					GACGTGTGTGGTGCAGCATTT	0.473													T	140107546	G	T	140107546	3	4	65	1	0	0	0	0	1	0	0	0	12904	1261	44	5	102	5	RAB19	7	140107546	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1504406	140107546	19031117	439	47265											
EPHA1	2041	broad.mit.edu	37	chr7	143092451	143092451	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagatgcagaatatgcgggtGgctaaactggcccatgatag	13	8	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:143092451G>T	uc003wcz.2	-	12	2131	c.2044C>A	c.(2044-2046)CAC>AAC	p.H682N		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	682	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ATATGCGGGTGGCTAAACTGG	0.547											OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	143092451	G	T	143092451	3	4	65	1	0	0	0	0	1	0	0	0	5165	1348	47	5	914	5	EPHA1	7	143092451	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2984905	143092451	16046212	440	47266											
SLC4A2	6522	broad.mit.edu	37	chr7	150759083	150759083	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagattcggccatgagcagCgcccctcggcgccccgccaa	11	17	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:150759083C>T	uc003wit.3	+	2	265	c.9C>T	c.(7-9)AGC>AGT	p.S3S	SLC4A2_uc011kve.1_5'Flank|SLC4A2_uc003wiu.3_5'Flank	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	3	Cytoplasmic (Potential).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCATGAGCAGCGCCCCTCGGC	0.652													T	150759083	C	T	150759083	2	4	65	1	0	0	0	0	0	0	0	1	14654	767	27	1		1	SLC4A2	7	150759083	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	7666632	150759083	8379580	441	47267											
CRYGN	155051	broad.mit.edu	37	chr7	151135100	151135100	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accattcctacaggccgacaGgagcccatgtggtcactgtg	11	13	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:151135100G>T	uc003wke.2	-	2	348	c.252C>A	c.(250-252)TCC>TCA	p.S84S	CRYGN_uc003wkf.2_Silent_p.S84S|CRYGN_uc003wkg.2_RNA|CRYGN_uc010lqd.1_5'Flank	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	gammaN-crystallin	84	Beta/gamma crystallin 'Greek key' 2.										0			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGGCCGACAGGAGCCCATGT	0.622													T	151135100	G	T	151135100	2	4	65	1	0	0	0	0	0	0	0	1	3918	987	35	5		5	CRYGN	7	151135100	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	376017	151135100	8003563	442	47268											
NOM1	64434	broad.mit.edu	37	chr7	156762322	156762322	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcccacagaagcgccgaCgaagccaacgtgctgagaga	13	13	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:156762322C>T	uc003wmy.2	+	11	2523	c.2508C>T	c.(2506-2508)GAC>GAT	p.D836D		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	836					RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GAAGCGCCGACGAAGCCAACG	0.527													T	156762322	C	T	156762322	2	4	65	1	0	0	0	0	0	0	0	1	10530	535	19	1		1	NOM1	7	156762322	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	5627222	156762322	2376341	443	47269											
MYOM2	9172	broad.mit.edu	37	chr8	2064029	2064029	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcattcaagactgtgctggaAgaggctgagtttcaaaggaa	13	6	2	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:2064029A>C	uc003wpx.3	+	27	3483	c.3345A>C	c.(3343-3345)GAA>GAC	p.E1115D	MYOM2_uc011kwi.1_Missense_Mutation_p.E540D	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	1115					muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTGTGCTGGAAGAGGCTGAGT	0.378													C	2064029	A	C	2064029	3	2	65	1	0	0	0	0	1	0	0	0	10092	69	3	5	3447	5	MYOM2	8	2064029	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08		2064029	144299993	444	47270											
CSMD1	64478	broad.mit.edu	37	chr8	3253820	3253820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaactggggtgcctgggtgCcgtggtactcgccgatcagt	17	10	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:3253820C>T	uc011kwk.1	-	17	2882	c.2492G>A	c.(2491-2493)GGC>GAC	p.G831D	CSMD1_uc011kwj.1_Missense_Mutation_p.G223D|CSMD1_uc003wqe.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	831	Extracellular (Potential).|CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCCTGGGTGCCGTGGTACTC	0.537													T	3253820	C	T	3253820	3	4	65	1	0	0	0	0	1	0	0	0	3944	739	26	2	8421	2	CSMD1	8	3253820	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1189791	3253820	143110202	445	47271											
MCPH1	79648	broad.mit.edu	37	chr8	6266828	6266828	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctatgttgaagtgtggtcAtccaatggaacagaaaatta	10	6	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:6266828A>G	uc003wqi.2	+	2	119	c.51A>G	c.(49-51)TCA>TCG	p.S17S	MCPH1_uc003wqh.2_Silent_p.S17S|MCPH1_uc011kwl.1_Silent_p.S17S|uc003wqf.2_5'Flank	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	17	BRCT 1.					microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGTGTGGTCATCCAATGGAA	0.368													G	6266828	A	G	6266828	2	3	65	1	0	0	0	0	0	0	0	1	9398	204	8	3		3	MCPH1	8	6266828	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	3013008	6266828	140097194	446	47272											
SGK223	157285	broad.mit.edu	37	chr8	8234263	8234263	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacggtgacaccggggacccTacagggctactcttggacaa	13	12	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:8234263T>C	uc003wsh.3	-	2	1656	c.1656A>G	c.(1654-1656)GTA>GTG	p.V552V		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	552							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						CCGGGGACCCTACAGGGCTAC	0.652													C	8234263	T	C	8234263	2	2	65	1	0	0	0	0	0	0	0	1	14210	1509	53	3		3	SGK223	8	8234263	Silent	SNP	T	TCGA-BR-8081-01A-11D-2340-08	1967435	8234263	138129759	447	47273											
SGK223	157285	broad.mit.edu	37	chr8	8234544	8234544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgggtctgggctgtcccGgccccagccagatgctgctt	14	13	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:8234544G>A	uc003wsh.3	-	2	1375	c.1375C>T	c.(1375-1377)CGG>TGG	p.R459W		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	459							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GGGCTGTCCCGGCCCCAGCCA	0.622													A	8234544	G	A	8234544	3	1	65	1	0	0	0	0	1	0	0	0	14210	1115	39	1	2849	1	SGK223	8	8234544	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	281	8234544	138129478	448	47274											
FAM167A	83648	broad.mit.edu	37	chr8	11282093	11282093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcttgttgatgtcgccaCgcaggcgcatgagctgtctg	13	11	2	2	rs145481836	by1000genomes	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:11282093C>T	uc010lry.1	-	3	1054	c.434G>A	c.(433-435)CGT>CAT	p.R145H	C8orf12_uc003wtu.2_Intron|C8orf12_uc003wtv.2_Intron|FAM167A_uc003wtw.2_Missense_Mutation_p.R145H	NM_053279	NP_444509	Q96KS9	F167A_HUMAN	hypothetical protein LOC83648	145	Potential.										0						GATGTCGCCACGCAGGCGCAT	0.627													T	11282093	C	T	11282093	3	4	65	1	0	0	0	0	1	0	0	0	5483	536	19	1	214	1	FAM167A	8	11282093	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	3047549	11282093	135081929	449	47275											
DLC1	10395	broad.mit.edu	37	chr8	12957132	12957132	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtagaggatgtcgtccagcTcggggaagatgtcctcgttc	15	9	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:12957132T>G	uc003wwm.2	-	9	3158	c.2714A>C	c.(2713-2715)GAG>GCG	p.E905A	DLC1_uc003wwk.1_Missense_Mutation_p.E468A|DLC1_uc003wwl.1_Missense_Mutation_p.E502A|DLC1_uc011kxx.1_Missense_Mutation_p.E394A	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	905					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GTCGTCCAGCTCGGGGAAGAT	0.577													G	12957132	T	G	12957132	3	3	65	1	0	0	0	0	1	0	0	0	4550	1551	54	5	1912	5	DLC1	8	12957132	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	1675039	12957132	133406890	450	47276											
BMP1	649	broad.mit.edu	37	chr8	22053003	22053003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgctctcggcccaaccgCgggggctgtgagcagcggtg	18	12	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:22053003C>T	uc003xbg.2	+	13	1912	c.1668C>T	c.(1666-1668)CGC>CGT	p.R556R	BMP1_uc003xba.2_Silent_p.R556R|BMP1_uc003xbb.2_Silent_p.R556R|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Silent_p.R305R|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Silent_p.R305R|BMP1_uc011kzc.1_Silent_p.R305R|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	556	EGF-like 1; calcium-binding (Potential).				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGCCCAACCGCGGGGGCTGTG	0.637													T	22053003	C	T	22053003	2	4	65	1	0	0	0	0	0	0	0	1	1456	755	27	1		1	BMP1	8	22053003	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	9095871	22053003	124311019	451	47277											
KIAA1967	57805	broad.mit.edu	37	chr8	22473324	22473324	+	Frame_Shift_Del	DEL	C	C	-													atctcccagaggcccctccaCcccccctagaacctgctgtc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:22473323_22473323AC>A	uc003xch.3	+	12	1755	c.1506_1506AC>A	c.(1504-1506)ccafs	p.P502fs	KIAA1967_uc003xci.3_Frame_Shift_Del_p.P502fs|KIAA1967_uc003xcj.1_Frame_Shift_Del_p.P171fs	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	502					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AGGCCCCTCCACCCCCCCTAG	0.572													-	22473324	C	-	22473324	7	5	65	1	0	1	0	1	0	0	0	0	8265	507	18	0	1553	0	KIAA1967	8	22473324	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	420321	22473324	123890698	452	47278											
TNFRSF10D	8793	broad.mit.edu	37	chr8	23002133	23002133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcgtgaaggacatgaacGccgccggaaaaggaccttgg	13	10	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:23002133G>A	uc003xcz.1	-	7	876	c.784C>T	c.(784-786)CGT>TGT	p.R262C		NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily,	262	Cytoplasmic (Potential).				anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		GGACATGAACGCCGCCGGAAA	0.592													A	23002133	G	A	23002133	3	1	65	1	0	0	0	0	1	0	0	0	16280	1087	38	1	388	1	TNFRSF10D	8	23002133	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	528809	23002133	123361889	453	47279											
LOXL2	4017	broad.mit.edu	37	chr8	23198632	23198632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgccctccttcacctccaCgtagccctccatcactgggg	7	19	2	0	rs140591037		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:23198632C>T	uc003xdh.1	-	4	955	c.616G>A	c.(616-618)GTG>ATG	p.V206M	uc003xdj.2_RNA|uc003xdi.2_RNA	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	206	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TTCACCTCCACGTAGCCCTCC	0.577													T	23198632	C	T	23198632	3	4	65	1	0	0	0	0	1	0	0	0	8900	536	19	1	1752	1	LOXL2	8	23198632	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	196499	23198632	123165390	454	47280											
PPP2R2A	5520	broad.mit.edu	37	chr8	26221281	26221281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtaacaggtcatttttttccGaaatcatctcctctatttcg	5	10	4	0	rs146354435		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:26221281G>A	uc003xeu.2	+	8	1149	c.847G>A	c.(847-849)GAA>AAA	p.E283K	PPP2R2A_uc003xek.2_Missense_Mutation_p.E284K|PPP2R2A_uc011laf.1_Missense_Mutation_p.E293K	NM_002717	NP_002708	P63151	2ABA_HUMAN	alpha isoform of regulatory subunit B55, protein	283	WD 5.				protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			ovary(1)|kidney(1)	2		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		ATTTTTTTCCGAAATCATCTC	0.333													A	26221281	G	A	26221281	3	1	65	1	0	0	0	0	1	0	0	0	12384	1059	37	1	918	1	PPP2R2A	8	26221281	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	3022649	26221281	120142741	455	47281											
CHRNA2	1135	broad.mit.edu	37	chr8	27321182	27321182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcggcagccgccggatgaCgaaggcgtaggtgacgtcgg	19	10	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:27321182C>T	uc010lur.2	-	6	1387	c.778G>A	c.(778-780)GTC>ATC	p.V260I	CHRNA2_uc011lal.1_Missense_Mutation_p.V245I|CHRNA2_uc010lus.2_Missense_Mutation_p.V62I	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	260	Extracellular.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	CGCCGGATGACGAAGGCGTAG	0.612													T	27321182	C	T	27321182	3	4	65	1	0	0	0	0	1	0	0	0	3383	536	19	1	819	1	CHRNA2	8	27321182	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1099901	27321182	119042840	456	47282											
KIF13B	23303	broad.mit.edu	37	chr8	28974486	28974486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgctgagctgagggcaGccatgcaccgcggagtccca	13	16	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:28974486G>A	uc003xhh.3	-	31	3758	c.3699C>T	c.(3697-3699)GGC>GGT	p.G1233G	uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1233					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GCTGAGGGCAGCCATGCACCG	0.577													A	28974486	G	A	28974486	2	1	65	1	0	0	0	0	0	0	0	1	8275	958	34	2		2	KIF13B	8	28974486	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1653304	28974486	117389536	457	47283											
KIF13B	23303	broad.mit.edu	37	chr8	29035015	29035015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccttccttcagcctgtcCcctgcagcgcctgtcttcgt	7	19	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:29035015C>T	uc003xhh.3	-	9	860	c.801G>A	c.(799-801)GGG>GGA	p.G267G	KIF13B_uc003xhj.2_Silent_p.G164G|KIF13B_uc010lvf.1_Silent_p.G203G	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	267	Kinesin-motor.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TCAGCCTGTCCCCTGCAGCGC	0.438											OREG0018684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	29035015	C	T	29035015	2	4	65	1	0	0	0	0	0	0	0	1	8275	610	22	4		4	KIF13B	8	29035015	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	60529	29035015	117329007	458	47284											
BRF2	55290	broad.mit.edu	37	chr8	37704629	37704629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgttggtagtaggcaacCgcggtatcctcaaatgttgg	13	9	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:37704629C>T	uc003xkk.2	-	3	389	c.279G>A	c.(277-279)GCG>GCA	p.A93A		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	RNA polymerase III transcription initiation	93	1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding				0		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			AGTAGGCAACCGCGGTATCCT	0.552													T	37704629	C	T	37704629	2	4	65	1	0	0	0	0	0	0	0	1	1511	639	23	1		1	BRF2	8	37704629	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	8669614	37704629	108659393	459	47285											
SLC20A2	6575	broad.mit.edu	37	chr8	42323320	42323320	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgacaagctccatccactgCacacctttggtaccgattgc	7	14	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:42323320C>T	uc010lxl.2	-	3	1099	c.405G>A	c.(403-405)GTG>GTA	p.V135V	SLC20A2_uc010lxm.2_Silent_p.V135V|SLC20A2_uc003xpe.2_Silent_p.V135V	NM_006749	NP_006740	Q08357	S20A2_HUMAN	solute carrier family 20, member 2	135	Extracellular (Potential).				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(2)	2	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCATCCACTGCACACCTTTGG	0.408													T	42323320	C	T	42323320	2	4	65	1	0	0	0	0	0	0	0	1	14439	697	25	2		2	SLC20A2	8	42323320	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	4618691	42323320	104040702	460	47286											
PXDNL	137902	broad.mit.edu	37	chr8	52284448	52284448	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgacctgcacagcagtcttGccacactcgcaggtccacct	8	17	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:52284448G>T	uc003xqu.3	-	19	3987	c.3886C>A	c.(3886-3888)CAA>AAA	p.Q1296K	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1296					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CAGCAGTCTTGCCACACTCGC	0.468													T	52284448	G	T	52284448	3	4	65	1	0	0	0	0	1	0	0	0	12848	1328	46	5	525	5	PXDNL	8	52284448	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	9961128	52284448	94079574	461	47287											
ATP6V1H	51606	broad.mit.edu	37	chr8	54742014	54742014	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atatacctacctgcagcataTcatccaccatagttagtata	4	11	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:54742014T>A	uc003xrl.2	-	4	448	c.296A>T	c.(295-297)GAT>GTT	p.D99V	ATP6V1H_uc003xrk.2_Missense_Mutation_p.D59V|ATP6V1H_uc003xrm.2_Missense_Mutation_p.D99V|ATP6V1H_uc003xrn.2_Missense_Mutation_p.D99V|ATP6V1H_uc011ldv.1_Missense_Mutation_p.D19V|ATP6V1H_uc010lyd.2_Missense_Mutation_p.D35V	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	99					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			CTGCAGCATATCATCCACCAT	0.318													A	54742014	T	A	54742014	3	1	65	1	0	0	0	0	1	0	0	0	1189	1435	50	5	1199	5	ATP6V1H	8	54742014	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	2457566	54742014	91622008	462	47288											
RP1	6101	broad.mit.edu	37	chr8	55537789	55537789	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcatcgtttttataggccCcctacacctggactaagaag	8	11	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:55537789C>T	uc003xsd.1	+	4	1495	c.1347C>T	c.(1345-1347)CCC>CCT	p.P449P	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	449					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTTATAGGCCCCCTACACCTG	0.438													T	55537789	C	T	55537789	2	4	65	1	0	0	0	0	0	0	0	1	13532	610	22	4		4	RP1	8	55537789	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	795775	55537789	90826233	463	47289											
MOS	4342	broad.mit.edu	37	chr8	57025637	57025637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcgagtcctcgaagacgGcagcggagagggacgggcgc	20	10	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:57025637G>A	uc011leb.1	-	1	905	c.905C>T	c.(904-906)GCC>GTC	p.A302V		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	302	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			CTCGAAGACGGCAGCGGAGAG	0.687													A	57025637	G	A	57025637	3	1	65	1	0	0	0	0	1	0	0	0	9712	1203	42	2	138	2	MOS	8	57025637	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1487848	57025637	89338385	464	47290											
VCPIP1	80124	broad.mit.edu	37	chr8	67577678	67577678	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagggaaagctgtaattttTgtcagtcctcagctgtccat	9	9	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:67577678T>C	uc003xwn.2	-	1	1775	c.1516A>G	c.(1516-1518)AAA>GAA	p.K506E	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	506					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CTGTAATTTTTGTCAGTCCTC	0.423													C	67577678	T	C	67577678	3	2	65	1	0	0	0	0	1	0	0	0	17138	1821	63	3	2164	3	VCPIP1	8	67577678	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	10552041	67577678	78786344	465	47291											
ARFGEF1	10565	broad.mit.edu	37	chr8	68184034	68184034	+	Frame_Shift_Del	DEL	T	T	-													ctggaacagatgagactccaTtttttgagagtgcaacacaa							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:68184033_68184033AT>A	uc003xxo.2	-	9	1866	c.1476_1476AT>T	c.(1474-1476)aatfs	p.N492fs		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	492					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATGAGACTCCATTTTTTGAGA	0.348													-	68184034	T	-	68184034	7	5	65	1	0	1	0	1	0	0	0	0	852	1493	52	0	4194	0	ARFGEF1	8	68184034	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	606356	68184034	78179988	466	47292											
SLCO5A1	81796	broad.mit.edu	37	chr8	70617426	70617426	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttataatgtagcctccgaGgacaataccaacaccagcac	6	12	0	0	rs138620020		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:70617426G>T	uc003xyl.2	-	6	2169	c.1462C>A	c.(1462-1464)CTC>ATC	p.L488I	SLCO5A1_uc010lzb.2_Missense_Mutation_p.L433I|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Missense_Mutation_p.L488I|SLCO5A1_uc010lzc.2_Missense_Mutation_p.L433I	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	488	Helical; Name=8; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TAGCCTCCGAGGACAATACCA	0.398													T	70617426	G	T	70617426	3	4	65	1	0	0	0	0	1	0	0	0	14731	1000	35	5	1104	5	SLCO5A1	8	70617426	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2433392	70617426	75746596	467	47293											
GDAP1	54332	broad.mit.edu	37	chr8	75276270	75276270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatccttcaccctggcagacGtctcactcgctgtcacattg	7	15	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:75276270G>A	uc003yah.2	+	6	824	c.745G>A	c.(745-747)GTC>ATC	p.V249I	GDAP1_uc011lfj.1_Missense_Mutation_p.V134I|GDAP1_uc003yai.2_Missense_Mutation_p.V181I	NM_018972	NP_061845	Q8TB36	GDAP1_HUMAN	ganglioside-induced differentiation-associated	249	GST C-terminal.					cytoplasm					0	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CCTGGCAGACGTCTCACTCGC	0.502													A	75276270	G	A	75276270	3	1	65	1	0	0	0	0	1	0	0	0	6307	1145	40	1	767	1	GDAP1	8	75276270	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	4658844	75276270	71087752	468	47294											
ZFHX4	79776	broad.mit.edu	37	chr8	77775599	77775599	+	Frame_Shift_Del	DEL	A	A	-													ccaaacccgaaaaacaccccAaaaaagaggaaaaaatctca							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:77775598_77775598CA>C	uc003yau.2	+	10	10035	c.9648_9648CA>C	c.(9646-9648)cccfs	p.P3216fs		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3167						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAAACACCCCAAAAAAGAGG	0.398										HNSCC(33;0.089)			-	77775599	A	-	77775599	7	5	65	1	0	1	0	1	0	0	0	0	17632	131	5	0	9687	0	ZFHX4	8	77775599	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	2499329	77775599	68588423	469	47295											
RBM12B	389677	broad.mit.edu	37	chr8	94746562	94746562	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtcatcctcgggtggtcGcctccattctccctgaagag	11	13	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:94746562G>A	uc003yfz.2	-	3	2270	c.2077C>T	c.(2077-2079)CGA>TGA	p.R693*		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	693							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCGGGTGGTCGCCTCCATTCT	0.627													A	94746562	G	A	94746562	4	1	65	1	0	0	0	0	0	1	0	0	13114	1095	38	1	932	1	RBM12B	8	94746562	Nonsense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	16970963	94746562	51617460	470	47296											
INTS8	55656	broad.mit.edu	37	chr8	95837172	95837172	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttggaacaggcttccaaacCttcagttaatgaacaaaacc	6	10	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:95837172C>A	uc003yhb.2	+	2	308	c.182C>A	c.(181-183)CCT>CAT	p.P61H	INTS8_uc003yha.1_Missense_Mutation_p.P61H|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	61					snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					GCTTCCAAACCTTCAGTTAAT	0.328													A	95837172	C	A	95837172	3	1	65	1	0	0	0	0	1	0	0	0	7784	681	24	5	188	5	INTS8	8	95837172	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1090610	95837172	50526850	471	47297											
POP1	10940	broad.mit.edu	37	chr8	99168468	99168468	+	Frame_Shift_Del	DEL	A	A	-													tgccttgtgctcccatgcctAaaaaaactcatcagccatct							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:99168467_99168467TA>T	uc003yij.4	+	14	2347	c.2247_2247TA>T	c.(2245-2247)cctfs	p.P749fs	POP1_uc011lgv.2_Frame_Shift_Del_p.P749fs|POP1_uc003yik.3_Frame_Shift_Del_p.P749fs	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	749					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CTCCCATGCCTAAAAAAACTC	0.507													-	99168468	A	-	99168468	7	5	65	1	0	1	0	1	0	0	0	0	12251	363	13	0	2302	0	POP1	8	99168468	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	3331296	99168468	47195554	472	47298											
KCNS2	3788	broad.mit.edu	37	chr8	99440481	99440481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcacaccggcaagcttcacGtcatggctgagctatgtgtc	10	12	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:99440481G>A	uc003yin.2	+	2	624	c.274G>A	c.(274-276)GTC>ATC	p.V92I		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	92	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CAAGCTTCACGTCATGGCTGA	0.547													A	99440481	G	A	99440481	3	1	65	1	0	0	0	0	1	0	0	0	8089	1145	40	1	276	1	KCNS2	8	99440481	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	272013	99440481	46923541	473	47299											
RRM2B	50484	broad.mit.edu	37	chr8	103220371	103220371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggttttttaaaaatctGcatccaaggtgaagacgtta	9	5	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:103220371G>A	uc003ykn.2	-	9	1290	c.1046C>T	c.(1045-1047)GCA>GTA	p.A349V	RRM2B_uc003yko.2_RNA|RRM2B_uc010mbv.1_Missense_Mutation_p.A297V|RRM2B_uc010mbw.1_Missense_Mutation_p.A137V|RRM2B_uc010mbx.1_RNA|RRM2B_uc010mby.1_RNA	NM_015713	NP_056528	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	349					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			ovary(2)	2	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			TTAAAAATCTGCATCCAAGGT	0.308								Direct_reversal_of_damage|Modulation_of_nucleotide_pools					A	103220371	G	A	103220371	3	1	65	1	0	0	0	0	1	0	0	0	13683	1319	46	2	13	2	RRM2B	8	103220371	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	3779890	103220371	43143651	474	47300											
UBR5	51366	broad.mit.edu	37	chr8	103289205	103289205	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttagcaaatacctgaaAgatgtgagaggtggcccttc	12	8	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:103289205A>G	uc003ykr.1	-	45	6537	c.6504T>C	c.(6502-6504)TCT>TCC	p.S2168S	UBR5_uc003yks.1_Silent_p.S2168S	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	2168					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATACCTGAAAGATGTGAGAG	0.378													G	103289205	A	G	103289205	2	3	65	1	0	0	0	0	0	0	0	1	16902	59	3	3		3	UBR5	8	103289205	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	68834	103289205	43074817	475	47301											
AZIN1	51582	broad.mit.edu	37	chr8	103855874	103855874	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcatcatcaataaatcCtttcatctcagccgtattcc	4	12	4	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:103855874C>A	uc003ykx.2	-	4	749	c.7G>T	c.(7-9)GGA>TGA	p.G3*	AZIN1_uc003yky.2_Nonsense_Mutation_p.G3*	NM_015878	NP_056962	O14977	AZIN1_HUMAN	ornithine decarboxylase antizyme inhibitor	3					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding				0	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			TCAATAAATCCTTTCATCTCA	0.418													A	103855874	C	A	103855874	4	1	65	1	0	0	0	0	0	1	0	0	1242	690	24	5	1379	5	AZIN1	8	103855874	Nonsense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	566669	103855874	42508148	476	47302											
LRP12	29967	broad.mit.edu	37	chr8	105503269	105503269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatgtaaaacgtacccagcGtagcccctgagtcatacgac	8	12	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:105503269G>A	uc003yma.2	-	7	2307	c.2212C>T	c.(2212-2214)CGC>TGC	p.R738C	LRP12_uc003ymb.2_Missense_Mutation_p.R719C|LRP12_uc003ylz.2_Missense_Mutation_p.R144C	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	738	Cytoplasmic (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CGTACCCAGCGTAGCCCCTGA	0.478													A	105503269	G	A	105503269	3	1	65	1	0	0	0	0	1	0	0	0	8954	1145	40	1	371	1	LRP12	8	105503269	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1647395	105503269	40860753	477	47303											
OXR1	55074	broad.mit.edu	37	chr8	107715191	107715191	+	Frame_Shift_Del	DEL	A	A	-													atataatgtttgatccacatAaaaatgaccctttggttcaa							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:107715190_107715190TA>T	uc011lht.2	+	6	834	c.735_735TA>T	c.(733-735)catfs	p.H245fs	OXR1_uc022azp.1_Frame_Shift_Del_p.H244fs|OXR1_uc003ymf.3_Frame_Shift_Del_p.H244fs|OXR1_uc011lhu.2_Frame_Shift_Del_p.H237fs|OXR1_uc010mcg.3_Intron|OXR1_uc003ymg.1_Frame_Shift_Del_p.H177fs|OXR1_uc003ymi.1_Frame_Shift_Del_p.H156fs	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	245	GRAM.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		p.E244*(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TTGATCCACATAAAAATGACC	0.383													-	107715191	A	-	107715191	7	5	65	1	0	1	0	1	0	0	0	0	11334	363	13	0	962	0	OXR1	8	107715191	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	2211922	107715191	38648831	478	47304											
KLHL38	340359	broad.mit.edu	37	chr8	124664881	124664881	+	Frame_Shift_Del	DEL	C	C	-													gtcagtggcaatatgtgcctCccccgtatacacgtaggaga							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:124664880_124664880TC>T	uc003yqs.1	-	0	311	c.287_287GA>A	c.(286-288)gagfs	p.E96fs		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	96	BTB.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						AATATGTGCCTCCCCCGTATA	0.572													-	124664881	C	-	124664881	7	5	65	1	0	1	0	1	0	0	0	0	8390	864	30	0	1471	0	KLHL38	8	124664881	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	16949690	124664881	21699141	479	47305											
EFR3A	23167	broad.mit.edu	37	chr8	133015532	133015532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatattggaactcaccatacGgtaagggttttgttatcaca	8	7	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:133015532G>A	uc003yte.2	+	22	2561	c.2360G>A	c.(2359-2361)CGT>CAT	p.R787H		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A	787						plasma membrane	binding			ovary(3)|breast(1)|central_nervous_system(1)	5	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CTCACCATACGGTAAGGGTTT	0.328													A	133015532	G	A	133015532	3	1	65	1	0	0	0	0	1	0	0	0	4958	1130	39	1	2446	1	EFR3A	8	133015532	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	8350651	133015532	13348490	480	47306											
KCNK9	51305	broad.mit.edu	37	chr8	140631097	140631097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcacactgggagaaggCggccgccccgatgcacagcg	13	16	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:140631097C>T	uc003yvf.1	-	2	593	c.529G>A	c.(529-531)GCC>ACC	p.A177T	KCNK9_uc003yvg.1_Missense_Mutation_p.A177T|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	177	Helical; (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TGGGAGAAGGCGGCCGCCCCG	0.572													T	140631097	C	T	140631097	3	4	65	1	0	0	0	0	1	0	0	0	8072	768	27	1	599	1	KCNK9	8	140631097	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	7615565	140631097	5732925	481	47307											
EPPK1	83481	broad.mit.edu	37	chr8	144945087	144945087	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagcgctccagaagctgcaGgtacgtgaggttctcgtgcg	14	11	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:144945087G>T	uc003zaa.1	-	1	2348	c.2335C>A	c.(2335-2337)CTG>ATG	p.L779M		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	779	Plectin 15.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGAAGCTGCAGGTACGTGAGG	0.617													T	144945087	G	T	144945087	3	4	65	1	0	0	0	0	1	0	0	0	5190	991	35	5	4931	5	EPPK1	8	144945087	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	4313990	144945087	1418935	482	47308											
PLEC	5339	broad.mit.edu	37	chr8	144993009	144993010	+	Frame_Shift_Del	DEL	GA	GA	-													cggagcaggttgtaggtctcGagagagatgatccgagcctc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:144993008_144993009CGA>C	uc003zaf.1	-	31	11561_11562	c.11391_11392TCG>G	c.(11389-11394)ctcgagfs	p.L3797fs	PLEC_uc003zab.1_Frame_Shift_Del_p.L3660fs|PLEC_uc003zac.1_Frame_Shift_Del_p.L3664fs|PLEC_uc003zad.2_Frame_Shift_Del_p.L3660fs|PLEC_uc003zae.1_Frame_Shift_Del_p.L3628fs|PLEC_uc003zag.1_Frame_Shift_Del_p.L3638fs|PLEC_uc003zah.2_Frame_Shift_Del_p.L3646fs|PLEC_uc003zaj.2_Frame_Shift_Del_p.L3687fs	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3797	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTGTAGGTCTCGAGAGAGATGA	0.653													-	144993010	GA	-	144993009	7	5	65	1	0	1	0	1	0	0	0	0	12052	1045	37	0	2667	0	PLEC	8	144993009	Frame_Shift_Del	DEL	GA	TCGA-BR-8081-01A-11D-2340-08	47922	144993009	1371013	483	47309											
PLEC	5339	broad.mit.edu	37	chr8	144999695	144999695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccctcagccccgccacGctggcgctcggtggcctcca	10	22	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:144999695G>A	uc003zaf.1	-	31	4983	c.4813C>T	c.(4813-4815)CGT>TGT	p.R1605C	PLEC_uc003zab.1_Missense_Mutation_p.R1468C|PLEC_uc003zac.1_Missense_Mutation_p.R1472C|PLEC_uc003zad.2_Missense_Mutation_p.R1468C|PLEC_uc003zae.1_Missense_Mutation_p.R1436C|PLEC_uc003zag.1_Missense_Mutation_p.R1446C|PLEC_uc003zah.2_Missense_Mutation_p.R1454C|PLEC_uc003zaj.2_Missense_Mutation_p.R1495C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1605	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCCCCGCCACGCTGGCGCTCG	0.731													A	144999695	G	A	144999695	3	1	65	1	0	0	0	0	1	0	0	0	12052	1087	38	1	9249	1	PLEC	8	144999695	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	6686	144999695	1364327	484	47310											
SLC39A4	55630	broad.mit.edu	37	chr8	145638296	145638296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcagtgcttggcgcacGgacagccccgcgtgcagcaa	14	14	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:145638296G>A	uc003zcq.2	-	11	1762	c.1662C>T	c.(1660-1662)TCC>TCT	p.S554S	SLC39A4_uc003zcm.1_Silent_p.S56S|SLC39A4_uc003zcn.2_Silent_p.S56S|SLC39A4_uc003zco.2_Silent_p.S278S|SLC39A4_uc003zcp.2_Silent_p.S529S	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	554	Cytoplasmic (Potential).					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CTTGGCGCACGGACAGCCCCG	0.672													A	145638296	G	A	145638296	2	1	65	1	0	0	0	0	0	0	0	1	14620	1103	39	1		1	SLC39A4	8	145638296	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	638601	145638296	725726	485	47311											
KIAA0020	9933	broad.mit.edu	37	chr9	2829847	2829847	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctccaaaatggctttgtcaTtgtatgcgtactccacgatg	9	10	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:2829847T>C	uc003zhp.1	-	8	875	c.779A>G	c.(778-780)AAT>AGT	p.N260S	KIAA0020_uc010mhc.1_Missense_Mutation_p.N259S|KIAA0020_uc003zhq.1_Missense_Mutation_p.N259S	NM_014878	NP_055693	Q15397	K0020_HUMAN	KIAA0020 protein	260	Pumilio 3.|PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(50;0.0319)		GGCTTTGTCATTGTATGCGTA	0.458													C	2829847	T	C	2829847	3	2	65	1	0	0	0	0	1	0	0	0	8152	1493	52	3	1211	3	KIAA0020	9	2829847	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08		2829847	138383584	486	47312											
RFX3	5991	broad.mit.edu	37	chr9	3225156	3225156	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttggttgcacgccagtctcGagaacaggctgcatgcagcc	12	13	1	1	rs113424988		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:3225156G>A	uc003zhr.2	-	18	2448	c.2136C>T	c.(2134-2136)CTC>CTT	p.L712L	RFX3_uc010mhd.2_Silent_p.L712L	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	712					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CGCCAGTCTCGAGAACAGGCT	0.498													A	3225156	G	A	3225156	2	1	65	1	0	0	0	0	0	0	0	1	13264	1045	37	1		1	RFX3	9	3225156	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	395309	3225156	137988275	487	47313											
GLIS3	169792	broad.mit.edu	37	chr9	4118080	4118080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccgggtggtgaaggtgCgcatgggcatggtaaggggg	21	6	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:4118080C>T	uc003zhw.1	-	3	1127	c.933G>A	c.(931-933)GCG>GCA	p.A311A	GLIS3_uc003zhx.1_Silent_p.A466A|GLIS3_uc003zic.1_Silent_p.A466A|GLIS3_uc003zie.1_Silent_p.A466A|GLIS3_uc010mhh.1_Silent_p.A341A|GLIS3_uc003zid.1_Silent_p.A244A|GLIS3_uc010mhi.1_Silent_p.A273A|GLIS3_uc003zif.1_Silent_p.A244A|GLIS3_uc003zig.1_Silent_p.A310A|GLIS3_uc003zih.1_Silent_p.A244A|GLIS3_uc003zhy.1_Silent_p.A244A|GLIS3_uc003zhz.1_Silent_p.A244A|GLIS3_uc003zib.1_Silent_p.A310A|GLIS3_uc010mhg.1_Silent_p.A244A	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	311					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GGTGAAGGTGCGCATGGGCAT	0.507													T	4118080	C	T	4118080	2	4	65	1	0	0	0	0	0	0	0	1	6447	755	27	1		1	GLIS3	9	4118080	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	892924	4118080	137095351	488	47314											
JAK2	3717	broad.mit.edu	37	chr9	5072572	5072572	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagactacggtcaactgcaTgaaacagaagttcttttaaa	9	7	2	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:5072572T>C	uc010mhm.2	+	12	1835	c.1722T>C	c.(1720-1722)CAT>CAC	p.H574H	JAK2_uc003ziw.2_Silent_p.H574H	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	574	Protein kinase 1.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GTCAACTGCATGAAACAGAAG	0.353		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				C	5072572	T	C	5072572	2	2	65	1	0	0	0	0	0	0	0	1	7938	1461	51	3		3	JAK2	9	5072572	Silent	SNP	T	TCGA-BR-8081-01A-11D-2340-08	954492	5072572	136140859	489	47315											
MPDZ	8777	broad.mit.edu	37	chr9	13150616	13150616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacttctccattgcttagcCgactccccatccctcgtcca	4	19	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:13150616C>T	uc010mia.1	-	24	3581	c.3524G>A	c.(3523-3525)CGG>CAG	p.R1175Q	MPDZ_uc010mhx.2_Missense_Mutation_p.R67Q|MPDZ_uc011lmm.1_Missense_Mutation_p.R67Q|MPDZ_uc003zkz.3_Intron|MPDZ_uc010mhy.2_Missense_Mutation_p.R1175Q|MPDZ_uc010mhz.2_Missense_Mutation_p.R1175Q|MPDZ_uc011lmn.1_Missense_Mutation_p.R1175Q|MPDZ_uc003zlb.3_Missense_Mutation_p.R1175Q	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1175	PDZ 7.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		ATTGCTTAGCCGACTCCCCAT	0.418													T	13150616	C	T	13150616	3	4	65	1	0	0	0	0	1	0	0	0	9722	652	23	1	2689	1	MPDZ	9	13150616	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	8078044	13150616	128062815	490	47316											
FREM1	158326	broad.mit.edu	37	chr9	14813042	14813042	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcctttaagactggtggCtcatcgttgacagggaatac	11	9	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:14813042C>T	uc003zlm.2	-	16	3251	c.2661G>A	c.(2659-2661)GAG>GAA	p.E887E	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	887	CSPG 6.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		AGACTGGTGGCTCATCGTTGA	0.418													T	14813042	C	T	14813042	2	4	65	1	0	0	0	0	0	0	0	1	6044	796	28	2		2	FREM1	9	14813042	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1662426	14813042	126400389	491	47317											
IFNA13	3447	broad.mit.edu	37	chr9	21367455	21367455	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttattccttcctccttaaTctttcttgcaagtttgttga	5	9	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:21367455T>C	uc003zpa.2	-	1	621	c.555A>G	c.(553-555)AGA>AGG	p.R185R		NM_006900	NP_008831	P01562	IFNA1_HUMAN	interferon, alpha 13 precursor	184					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			ovary(1)	1				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		TCCTCCTTAATCTTTCTTGCA	0.413													C	21367455	T	C	21367455	2	2	65	1	0	0	0	0	0	0	0	1	7533	1432	50	3		3	IFNA13	9	21367455	Silent	SNP	T	TCGA-BR-8081-01A-11D-2340-08	6554413	21367455	119845976	492	47318											
TLN1	7094	broad.mit.edu	37	chr9	35713993	35713993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgccatctcgagctgctGccttcacttcctgtagatct	8	14	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:35713993G>A	uc003zxt.2	-	25	3560	c.3206C>T	c.(3205-3207)GCA>GTA	p.A1069V		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1069					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCGAGCTGCTGCCTTCACTTC	0.453													A	35713993	G	A	35713993	3	1	65	1	0	0	0	0	1	0	0	0	15944	1319	46	2	4551	2	TLN1	9	35713993	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	14346538	35713993	105499438	493	47319											
PGM5	5239	broad.mit.edu	37	chr9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattattggacagaatggcAtcttgtcgacacctgcggtc	11	9	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478													G	70993145	A	G	70993145	3	3	65	1	0	0	0	0	1	0	0	0	11801	217	8	3	298	3	PGM5	9	70993145	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	35279152	70993145	70220286	494	47320											
TRPM3	80036	broad.mit.edu	37	chr9	73233803	73233803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgaggcctgagttcttgcGcatgcggagccggcccatcc	13	14	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:73233803G>A	uc004aid.2	-	16	2546	c.2302C>T	c.(2302-2304)CGC>TGC	p.R768C	TRPM3_uc004ahu.2_Missense_Mutation_p.R598C|TRPM3_uc004ahv.2_Missense_Mutation_p.R570C|TRPM3_uc004ahw.2_Missense_Mutation_p.R640C|TRPM3_uc004ahx.2_Missense_Mutation_p.R627C|TRPM3_uc004ahy.2_Missense_Mutation_p.R630C|TRPM3_uc004ahz.2_Missense_Mutation_p.R617C|TRPM3_uc004aia.2_Missense_Mutation_p.R615C|TRPM3_uc004aib.2_Missense_Mutation_p.R605C|TRPM3_uc004aic.2_Missense_Mutation_p.R768C	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	793	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						GAGTTCTTGCGCATGCGGAGC	0.622													A	73233803	G	A	73233803	3	1	65	1	0	0	0	0	1	0	0	0	16584	1087	38	1	2861	1	TRPM3	9	73233803	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2240658	73233803	67979628	495	47321											
GNAQ	2776	broad.mit.edu	37	chr9	80336284	80336284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaactggaggatggtgtcCttgacggcagcaaagacaaa	12	8	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:80336284C>A	uc004akw.2	-	7	1076	c.1035G>T	c.(1033-1035)AAG>AAT	p.K345N	GNAQ_uc011lso.1_Missense_Mutation_p.K143N|GNAQ_uc004akv.1_5'Flank	NM_002072	NP_002063	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein),	345					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			eye(136)|skin(44)|meninges(11)|ovary(1)|kidney(1)	193						GGATGGTGTCCTTGACGGCAG	0.517			Mis		uveal melanoma								A	80336284	C	A	80336284	3	1	65	1	0	0	0	0	1	0	0	0	6509	680	24	5	48	5	GNAQ	9	80336284	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	7102481	80336284	60877147	496	47322											
CDK20	23552	broad.mit.edu	37	chr9	90585494	90585494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtctcaccacagatcgacGccctggtcatactggcgggc	13	14	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:90585494G>A	uc004apr.2	-	5	858	c.552C>T	c.(550-552)GGC>GGT	p.G184G	CDK20_uc004aps.2_Intron|CDK20_uc004apt.2_Intron|CDK20_uc004apu.2_Intron	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	cell cycle related kinase isoform 3	184	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						ACAGATCGACGCCCTGGTCAT	0.592													A	90585494	G	A	90585494	2	1	65	1	0	0	0	0	0	0	0	1	3137	1074	38	1		1	CDK20	9	90585494	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	10249210	90585494	50627937	497	47323											
ASPN	54829	broad.mit.edu	37	chr9	95228784	95228784	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggacagatacagccttcGcaacttctttgtggttagaa	11	8	1	2	rs143358512	by1000genomes	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:95228784G>A	uc004ase.1	-	4	701	c.457C>T	c.(457-459)CGA>TGA	p.R153*	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ASPN_uc010mqy.1_Nonsense_Mutation_p.R153*	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN	asporin precursor	153	LRR 3.				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding				0						TACAGCCTTCGCAACTTCTTT	0.358													A	95228784	G	A	95228784	4	1	65	1	0	0	0	0	0	1	0	0	1057	1095	38	1	705	1	ASPN	9	95228784	Nonsense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	4643290	95228784	45984647	498	47324											
ASPN	54829	broad.mit.edu	37	chr9	95236979	95236979	+	Frame_Shift_Del	DEL	A	A	-													attggaaacagatcaaatggAaaaaaatggcttcttggctc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:95236978_95236978GA>G	uc004ase.2	-	1	502	c.202_202TC>C	c.(202-204)ccafs	p.P68fs	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ASPN_uc010mqy.2_Frame_Shift_Del_p.P68fs	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN	Homo sapiens asporin (ASPN), transcript variant 1, mRNA.	68	LRRNT.				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						AGATCAAATGGAAAAAAATGG	0.368													-	95236979	A	-	95236979	7	5	65	1	0	1	0	1	0	0	0	0	1057	243	9	0	969	0	ASPN	9	95236979	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	8195	95236979	45976452	499	47325											
ANKS6	203286	broad.mit.edu	37	chr9	101552769	101552769	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcttccaggagcagcttcAccacacccaggtggccgccc	11	18	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:101552769A>G	uc004ayu.2	-	2	500	c.479T>C	c.(478-480)GTG>GCG	p.V160A	ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	160	ANK 4.									ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				GAGCAGCTTCACCACACCCAG	0.637													G	101552769	A	G	101552769	3	3	65	1	0	0	0	0	1	0	0	0	692	159	6	3	2192	3	ANKS6	9	101552769	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	6315790	101552769	39660662	500	47326											
IKBKAP	8518	broad.mit.edu	37	chr9	111644449	111644449	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctccttctaacagcaagaGcacagcttcttcataatcct	5	13	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:111644449G>T	uc004bdm.3	-	30	3761	c.3241C>A	c.(3241-3243)CTC>ATC	p.L1081I	IKBKAP_uc004bdl.2_Missense_Mutation_p.L732I|IKBKAP_uc011lwc.1_Missense_Mutation_p.L967I|IKBKAP_uc010mtq.2_Missense_Mutation_p.L732I|IKBKAP_uc004bdk.2_Missense_Mutation_p.L85I|IKBKAP_uc010mtp.2_RNA	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	1081					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						AACAGCAAGAGCACAGCTTCT	0.458													T	111644449	G	T	111644449	3	4	65	1	0	0	0	0	1	0	0	0	7610	971	34	5	789	5	IKBKAP	9	111644449	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	10091680	111644449	29568982	501	47327											
CTNNAL1	8727	broad.mit.edu	37	chr9	111746708	111746708	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttgcctttttcttttcatcTttcaaatcctaaatatgaaa	2	8	4	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:111746708T>A	uc004bdo.1	-	5	690	c.648A>T	c.(646-648)AAA>AAT	p.K216N	CTNNAL1_uc010mts.1_5'Flank|CTNNAL1_uc010mtt.1_Missense_Mutation_p.K216N|CTNNAL1_uc004bdp.1_Missense_Mutation_p.K216N	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	catenin, alpha-like 1	216					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			ovary(1)	1				STAD - Stomach adenocarcinoma(157;0.0768)		TCTTTTCATCTTTCAAATCCT	0.333													A	111746708	T	A	111746708	3	1	65	1	0	0	0	0	1	0	0	0	4015	1606	56	5	1616	5	CTNNAL1	9	111746708	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	102259	111746708	29466723	502	47328											
RGS3	5998	broad.mit.edu	37	chr9	116269637	116269637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagccaggaccagatggcGgggtcctgcggcgggcctcc	16	14	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:116269637G>A	uc004bhq.2	+	14	1365	c.1156G>A	c.(1156-1158)GGG>AGG	p.G386R	RGS3_uc004bhr.2_Missense_Mutation_p.G274R|RGS3_uc004bhs.2_Missense_Mutation_p.G276R|RGS3_uc004bht.2_Missense_Mutation_p.G105R|RGS3_uc010muy.2_Missense_Mutation_p.G105R|RGS3_uc004bhu.2_Missense_Mutation_p.G12R	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	386					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						ACCAGATGGCGGGGTCCTGCG	0.632													A	116269637	G	A	116269637	3	1	65	1	0	0	0	0	1	0	0	0	13306	1116	39	1	1347	1	RGS3	9	116269637	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	4522929	116269637	24943794	503	47329											
C9orf91	203197	broad.mit.edu	37	chr9	117405501	117405501	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctcaggcaatggggacaCgacacacgaactctccgaga	10	14	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:117405501C>T	uc004bjd.3	+	9	1154	c.937C>T	c.(937-939)CGA>TGA	p.R313*	C9orf91_uc004bje.3_Nonsense_Mutation_p.R292*|C9orf91_uc004bjf.3_Nonsense_Mutation_p.R212*	NM_153045	NP_694590	Q5VZI3	CI091_HUMAN	hypothetical protein LOC203197	313						integral to membrane				pancreas(1)	1						AATGGGGACACGACACACGAA	0.597													T	117405501	C	T	117405501	4	4	65	1	0	0	0	0	0	1	0	0	2505	528	19	1	967	1	C9orf91	9	117405501	Nonsense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1135864	117405501	23807930	504	47330											
TNC	3371	broad.mit.edu	37	chr9	117846648	117846648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaccaccctcgtgggtgggCgtgtacacgacaaggtactc	13	12	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:117846648C>T	uc004bjj.3	-	4	2333	c.1971G>A	c.(1969-1971)ACG>ACA	p.T657T	TNC_uc010mvf.2_Silent_p.T657T	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	657	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CGTGGGTGGGCGTGTACACGA	0.577													T	117846648	C	T	117846648	2	4	65	1	0	0	0	0	0	0	0	1	16267	755	27	1		1	TNC	9	117846648	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	441147	117846648	23366783	505	47331											
OR1J4	26219	broad.mit.edu	37	chr9	125281745	125281745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttcatatttttcactgAtctagacaatttccttctca	2	9	4	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:125281745A>G	uc011lyw.1	+	1	326	c.326A>G	c.(325-327)GAT>GGT	p.D109G		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J,	109	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTTTTCACTGATCTAGACAAT	0.418													G	125281745	A	G	125281745	3	3	65	1	0	0	0	0	1	0	0	0	10961	333	12	3	328	3	OR1J4	9	125281745	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	7435097	125281745	15931686	506	47332											
LHX2	9355	broad.mit.edu	37	chr9	126783526	126783526	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccattaaccacaaccccgaCgccaaggacttgaagcagct	8	15	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:126783526C>T	uc004boe.1	+	4	1615	c.876C>T	c.(874-876)GAC>GAT	p.D292D	LHX2_uc010mwi.1_Silent_p.D300D	NM_004789	NP_004780	P50458	LHX2_HUMAN	LIM homeobox protein 2	292	Homeobox.					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ACAACCCCGACGCCAAGGACT	0.607													T	126783526	C	T	126783526	2	4	65	1	0	0	0	0	0	0	0	1	8771	535	19	1		1	LHX2	9	126783526	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1501781	126783526	14429905	507	47333											
LRSAM1	90678	broad.mit.edu	37	chr9	130223460	130223460	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctttcttaggtcttaaaCgtggaaaggaatcaactgat	8	8	4	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:130223460C>T	uc004brb.1	+	8	675	c.330C>T	c.(328-330)AAC>AAT	p.N110N	LRSAM1_uc010mxk.1_Silent_p.N110N|LRSAM1_uc004brc.1_Silent_p.N110N|LRSAM1_uc004brd.1_Silent_p.N110N	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif	110	LRR 4.				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding				0						AGGTCTTAAACGTGGAAAGGA	0.323													T	130223460	C	T	130223460	2	4	65	1	0	0	0	0	0	0	0	1	9043	535	19	1		1	LRSAM1	9	130223460	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	3439934	130223460	10989971	508	47334											
C9orf119	375757	broad.mit.edu	37	chr9	131038608	131038608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcacctgagaggtcgctctCcgactcccgcgctggaccct	11	17	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:131038608C>T	uc004bup.2	+	1	184	c.184C>T	c.(184-186)CCG>TCG	p.P62S	GOLGA2_uc011maw.1_5'Flank|GOLGA2_uc010mxw.2_5'Flank|GOLGA2_uc004bul.1_5'Flank|C9orf119_uc010mxx.1_Missense_Mutation_p.P62S	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	hypothetical protein LOC375757	62					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding				0						AGGTCGCTCTCCGACTCCCGC	0.682													T	131038608	C	T	131038608	3	4	65	1	0	0	0	0	1	0	0	0	2452	855	30	4	186	4	C9orf119	9	131038608	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	815148	131038608	10174823	509	47335											
FAM73B	84895	broad.mit.edu	37	chr9	131830576	131830576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcggtgctcgccgtcctgCggaaccgctggctgtcagac	13	16	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:131830576C>T	uc004bxa.2	+	13	1555	c.1369C>T	c.(1369-1371)CGG>TGG	p.R457W	FAM73B_uc004bwy.2_RNA|FAM73B_uc004bwz.2_RNA|FAM73B_uc011mbn.1_Missense_Mutation_p.R457W|FAM73B_uc004bxb.2_5'Flank	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	hypothetical protein LOC84895	457						integral to membrane				skin(1)	1						CGCCGTCCTGCGGAACCGCTG	0.617													T	131830576	C	T	131830576	3	4	65	1	0	0	0	0	1	0	0	0	5618	759	27	1	1415	1	FAM73B	9	131830576	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	791968	131830576	9382855	510	47336											
CRAT	1384	broad.mit.edu	37	chr9	131862207	131862207	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccgctgcagcatgctcGtacacaagcccacaggagcc	9	18	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:131862207G>A	uc004bxh.2	-	8	1305	c.1023C>T	c.(1021-1023)TAC>TAT	p.Y341Y	CRAT_uc004bxg.2_Silent_p.Y320Y|CRAT_uc004bxk.3_Silent_p.Y320Y	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	341					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CAGCATGCTCGTACACAAGCC	0.607													A	131862207	G	A	131862207	2	1	65	1	0	0	0	0	0	0	0	1	3847	1140	40	1		1	CRAT	9	131862207	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	31631	131862207	9351224	511	47337											
USP20	10868	broad.mit.edu	37	chr9	132630616	132630616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagcagcgtacaaactcGgagcaagtggacgaggacgc	15	11	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:132630616G>A	uc004bys.2	+	11	1234	c.1023G>A	c.(1021-1023)TCG>TCA	p.S341S	USP20_uc004byr.2_Silent_p.S341S|USP20_uc004byt.1_Silent_p.S341S	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	341					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)				GTACAAACTCGGAGCAAGTGG	0.652													A	132630616	G	A	132630616	2	1	65	1	0	0	0	0	0	0	0	1	17049	1103	39	1		1	USP20	9	132630616	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	768409	132630616	8582815	512	47338											
GTF3C4	9329	broad.mit.edu	37	chr9	135553410	135553410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcaaggagaaattcgccgCctccaaggaccccacggtca	11	14	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:135553410C>T	uc010mzv.2	+	2	662	c.404C>T	c.(403-405)GCC>GTC	p.A135V	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	135					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		AAATTCGCCGCCTCCAAGGAC	0.463													T	135553410	C	T	135553410	3	4	65	1	0	0	0	0	1	0	0	0	6875	739	26	2	410	2	GTF3C4	9	135553410	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2922794	135553410	5660021	513	47339											
MED22	6837	broad.mit.edu	37	chr9	136208458	136208458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggacgccagcagaggggccGagaggccatcagcagagtct	17	11	2	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:136208458G>A	uc004cdc.2	-	5	734	c.500C>T	c.(499-501)TCG>TTG	p.S167L	MED22_uc004cdd.2_3'UTR	NM_133640	NP_598395	Q15528	MED22_HUMAN	mediator complex subunit 22 isoform b	167					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		CAGAGGGGCCGAGAGGCCATC	0.657													A	136208458	G	A	136208458	3	1	65	1	0	0	0	0	1	0	0	0	9440	1059	37	1	106	1	MED22	9	136208458	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	655048	136208458	5004973	514	47340											
BRD3	8019	broad.mit.edu	37	chr9	136918529	136918530	+	Frame_Shift_Ins	INS	-	-	G													gctggggttggagacctccgINSgggggggtgggttcacaggg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:136918528_136918529C>CG	uc004cew.3	-	1	259_260	c.71_72G>CG	c.(70-72)ccgfs	p.P24fs	BRD3_uc004cex.2_Frame_Shift_Ins_p.P24fs	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	24						nucleus	protein binding	p.P24fs*24(1)	BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TGGAGACCTCCGGGGGGGGTGG	0.658			T	C15orf55	lethal midline carcinoma of young people								G	136918530	-	G	136918529	7	5	65	1	0	1	1	0	0	0	0	0	1503	1116	39	0	2153	0	BRD3	9	136918529	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	710071	136918529	4294902	515	47341											
SNAPC4	6621	broad.mit.edu	37	chr9	139272011	139272011	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctacctgaatggggcatgtgGctgtcgtgcagcccggctgc	15	12	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:139272011G>T	uc004chh.2	-	21	4277	c.4268C>A	c.(4267-4269)GCC>GAC	p.A1423D		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	1423					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGGGCATGTGGCTGTCGTGCA	0.672													T	139272011	G	T	139272011	3	4	65	1	0	0	0	0	1	0	0	0	14837	1203	42	5	149	5	SNAPC4	9	139272011	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2353482	139272011	1941420	516	47342											
SNAPC4	6621	broad.mit.edu	37	chr9	139287157	139287157	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctccttctcggcttccctGccctgcttctccagggcttg	8	17	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:139287157G>A	uc004chh.2	-	7	714	c.705C>T	c.(703-705)GGC>GGT	p.G235G		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	235					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGGCTTCCCTGCCCTGCTTCT	0.627													A	139287157	G	A	139287157	2	1	65	1	0	0	0	0	0	0	0	1	14837	1306	46	2		2	SNAPC4	9	139287157	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	15146	139287157	1926274	517	47343											
SEC16A	9919	broad.mit.edu	37	chr9	139358902	139358902	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacctccaccaaggccggCtgtccttctgaaggcagatt	11	13	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:139358902C>T	uc004chx.2	-	9	4725	c.4416G>A	c.(4414-4416)CAG>CAA	p.Q1472Q	SEC16A_uc004chv.3_Silent_p.Q862Q|SEC16A_uc004chw.2_Silent_p.Q1472Q|SEC16A_uc010nbn.2_Silent_p.Q1472Q	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1294					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCAAGGCCGGCTGTCCTTCTG	0.542													T	139358902	C	T	139358902	2	4	65	1	0	0	0	0	0	0	0	1	13986	796	28	2		2	SEC16A	9	139358902	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	71745	139358902	1854529	518	47344											
FAM69B	138311	broad.mit.edu	37	chr9	139612048	139612048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccggctcccaggcctcaGggtccgctgcatcttcctgg	14	16	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:139612048G>A	uc004cik.2	+	2	177	c.83G>A	c.(82-84)AGG>AAG	p.R28K		NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	hypothetical protein LOC138311	28	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane					0	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		CCAGGCCTCAGGGTCCGCTGC	0.677													A	139612048	G	A	139612048	3	1	65	1	0	0	0	0	1	0	0	0	5603	1000	35	4	89	4	FAM69B	9	139612048	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	253146	139612048	1601383	519	47345											
ABCA2	20	broad.mit.edu	37	chr9	139907311	139907311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagaagccggtgccctgcGcagagcaggtgcagcggacg	18	11	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:139907311G>A	uc011mem.1	-	30	5079	c.4931C>T	c.(4930-4932)GCG>GTG	p.A1644V	ABCA2_uc011mel.1_Missense_Mutation_p.A1645V|ABCA2_uc004ckl.1_Missense_Mutation_p.A1575V|ABCA2_uc004ckm.1_Missense_Mutation_p.A1675V|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1644					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGTGCCCTGCGCAGAGCAGGT	0.687													A	139907311	G	A	139907311	3	1	65	1	0	0	0	0	1	0	0	0	32	1087	38	1	2452	1	ABCA2	9	139907311	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	295263	139907311	1306120	520	47346											
EXD3	54932	broad.mit.edu	37	chr9	140243958	140243958	+	Frame_Shift_Del	DEL	G	G	-													ccctggccctgtccacggctGgggctggcacgctcgccacc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:140243958delG	uc004cmp.2	-	15	1716	c.1520delC	c.(1519-1521)CCAfs	p.P507fs	C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Frame_Shift_Del_p.P187fs|EXD3_uc004cmq.1_RNA	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	507					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0						GTCCACGGCTGGGGCTGGCAC	0.682													-	140243958	G	-	140243958	7	5	65	1	0	1	0	1	0	0	0	0	5299	1348	47	0	1142	0	EXD3	9	140243958	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	336647	140243958	969473	521	47347											
ARRDC1	92714	broad.mit.edu	37	chr9	140508544	140508544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggtgaagacgggcagcGtggtcctcacagccagcact	14	12	1	2	rs146599172		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:140508544G>A	uc004cns.2	+	5	570	c.496G>A	c.(496-498)GTG>ATG	p.V166M	ARRDC1_uc004cnt.2_Missense_Mutation_p.V41M|ARRDC1_uc004cnu.2_RNA|ARRDC1_uc004cnv.2_Missense_Mutation_p.V146M|ARRDC1_uc004cnw.2_Missense_Mutation_p.V41M|ARRDC1_uc004cnp.1_Missense_Mutation_p.V166M|ARRDC1_uc004cnq.1_Missense_Mutation_p.V148M|ARRDC1_uc011mfb.1_Missense_Mutation_p.V41M|ARRDC1_uc004cnx.1_Missense_Mutation_p.V41M|ARRDC1_uc004cny.2_RNA	NM_152285	NP_689498	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	166											0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		GACGGGCAGCGTGGTCCTCAC	0.637													A	140508544	G	A	140508544	3	1	65	1	0	0	0	0	1	0	0	0	982	1145	40	1	514	1	ARRDC1	9	140508544	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	264586	140508544	704887	522	47348											
ZMYND11	10771	broad.mit.edu	37	chr10	255984	255984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atattggttgccaggagatgAgattgtaagtacattttatt	10	3	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:255984A>G	uc010pzt.1	+	3	700	c.272A>G	c.(271-273)GAG>GGG	p.E91G	ZMYND11_uc001ifk.2_Missense_Mutation_p.E91G|ZMYND11_uc010pzu.1_Missense_Mutation_p.E91G|ZMYND11_uc010pzv.1_Missense_Mutation_p.E91G|ZMYND11_uc010pzw.1_Missense_Mutation_p.E91G|ZMYND11_uc001ifm.2_Missense_Mutation_p.E91G|ZMYND11_uc010pzx.1_Missense_Mutation_p.E91G|ZMYND11_uc001ifn.2_Missense_Mutation_p.E91G|ZMYND11_uc009xhg.2_Missense_Mutation_p.E74G|ZMYND11_uc009xhh.2_Missense_Mutation_p.E45G|ZMYND11_uc010pzy.1_Missense_Mutation_p.E45G	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	51					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCAGGAGATGAGATTGTAAGT	0.323													G	255984	A	G	255984	3	3	65	1	0	0	0	0	1	0	0	0	17703	304	11	3	278	3	ZMYND11	10	255984	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08		255984	135278763	523	47349											
DIP2C	22982	broad.mit.edu	37	chr10	394598	394598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctccacaatcatcttgaCggtaggcaacgtcgtcgcga	9	13	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:394598C>T	uc001ifp.2	-	26	3304	c.3214G>A	c.(3214-3216)GTC>ATC	p.V1072I	DIP2C_uc009xhi.1_Missense_Mutation_p.V458I	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	1072						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ATCATCTTGACGGTAGGCAAC	0.572													T	394598	C	T	394598	3	4	65	1	0	0	0	0	1	0	0	0	4529	536	19	1	1504	1	DIP2C	10	394598	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	138614	394598	135140149	524	47350											
WDR37	22884	broad.mit.edu	37	chr10	1170870	1170870	+	Frame_Shift_Del	DEL	A	A	-													gatcaatgtatgtgtcggccAaaaaatcatagccctccccc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:1170869_1170869CA>C	uc009xhm.1	+	12	1434	c.1261_1261CA>C	c.(1261-1263)caafs	p.Q421fs	WDR37_uc001igf.1_Frame_Shift_Del_p.Q420fs|WDR37_uc009xhn.1_Non-coding_Transcript|WDR37_uc001igg.1_Non-coding_Transcript	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	Homo sapiens WD repeat domain 37 (WDR37), mRNA.	420										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		ATGTGTCGGCCAAAAAATCAT	0.493													-	1170870	A	-	1170870	7	5	65	1	0	1	0	1	0	0	0	0	17288	130	5	0	1305	0	WDR37	10	1170870	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	776272	1170870	134363877	525	47351											
C10orf18	54906	broad.mit.edu	37	chr10	5777426	5777426	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttccaagggctaagccacCtgtgaagaaatctccacaaa	8	11	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:5777426C>A	uc001iij.2	+	12	1989	c.1364C>A	c.(1363-1365)CCT>CAT	p.P455H	C10orf18_uc001iik.2_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	455										ovary(1)|central_nervous_system(1)	2						GCTAAGCCACCTGTGAAGAAA	0.408													A	5777426	C	A	5777426	3	1	65	1	0	0	0	0	1	0	0	0	1596	681	24	5	1398	5	C10orf18	10	5777426	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	4606556	5777426	129757321	526	47352											
CDC123	8872	broad.mit.edu	37	chr10	12288245	12288245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgagaacaacttaaacgGcgattttagtgaagttgacg	10	6	1	3	rs142243159		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:12288245G>A	uc001ill.2	+	11	1099	c.815G>A	c.(814-816)GGC>GAC	p.G272D	CDC123_uc001ilm.2_Missense_Mutation_p.G284D	NM_006023	NP_006014	O75794	CD123_HUMAN	cell division cycle 123	272					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)	1						AACTTAAACGGCGATTTTAGT	0.418													A	12288245	G	A	12288245	3	1	65	1	0	0	0	0	1	0	0	0	3055	1203	42	2	857	2	CDC123	10	12288245	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	6510819	12288245	123246502	527	47353											
CUBN	8029	broad.mit.edu	37	chr10	17061870	17061870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgaaatcctttctcacggCggccaaccccatctgtaagg	8	14	3	1	rs139600855		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:17061870C>T	uc001ioo.2	-	28	4182	c.4130G>A	c.(4129-4131)CGC>CAC	p.R1377H		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1377	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTCTCACGGCGGCCAACCCC	0.502													T	17061870	C	T	17061870	3	4	65	1	0	0	0	0	1	0	0	0	4051	768	27	1	6901	1	CUBN	10	17061870	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	4773625	17061870	118472877	528	47354											
ARMC3	219681	broad.mit.edu	37	chr10	23235188	23235188	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catttataaatttgctttaaAaggtttggatttttttcagt	6	3	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:23235188A>C	uc001irm.3	+	3	247	c.164A>C	c.(163-165)AAA>ACA	p.K55T	ARMC3_uc010qcv.1_Missense_Mutation_p.K55T|ARMC3_uc010qcw.1_Intron	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	55							binding				0						TTTGCTTTAAAAGGTTTGGAT	0.308													C	23235188	A	C	23235188	3	2	65	1	0	0	0	0	1	0	0	0	952	14	1	5	170	5	ARMC3	10	23235188	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	6173318	23235188	112299559	529	47355											
MYO3A	53904	broad.mit.edu	37	chr10	26385330	26385330	+	Frame_Shift_Del	DEL	T	T	-													tggagaaaaaaattttcataTtttttactacatttatgctg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:26385330delT	uc001isn.2	+	16	1943	c.1583delT	c.(1582-1584)ATTfs	p.I528fs	MYO3A_uc009xko.1_Frame_Shift_Del_p.I528fs|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Frame_Shift_Del_p.I528fs	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	528	Myosin head-like.				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						AATTTTCATATTTTTTACTAC	0.313													-	26385330	T	-	26385330	7	5	65	1	0	1	0	1	0	0	0	0	10076	1493	52	0	1637	0	MYO3A	10	26385330	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	3150142	26385330	109149417	530	47356											
ANKRD26	22852	broad.mit.edu	37	chr10	27311608	27311608	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgtcatttttaagaggTtcttaaatctgcaggaaggt	9	5	4	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:27311608T>C	uc001ith.2	-	29	4263	c.4091A>G	c.(4090-4092)AAC>AGC	p.N1364S	ANKRD26_uc001itg.2_Missense_Mutation_p.N1051S|ANKRD26_uc009xku.1_Missense_Mutation_p.N1365S	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1364	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						TTTTAAGAGGTTCTTAAATCT	0.259													C	27311608	T	C	27311608	3	2	65	1	0	0	0	0	1	0	0	0	654	1725	60	3	1062	3	ANKRD26	10	27311608	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	926278	27311608	108223139	531	47357											
SVIL	6840	broad.mit.edu	37	chr10	29821496	29821496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgttggcagatgccaggaaCgcacttcggagctgggcgac	16	11	0	1	rs144823074		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:29821496C>T	uc001iut.1	-	8	2553	c.1800G>A	c.(1798-1800)GCG>GCA	p.A600A	SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Silent_p.A600A	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	600					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				ATGCCAGGAACGCACTTCGGA	0.582													T	29821496	C	T	29821496	2	4	65	1	0	0	0	0	0	0	0	1	15418	523	19	1		1	SVIL	10	29821496	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2509888	29821496	105713251	532	47358											
C10orf68	79741	broad.mit.edu	37	chr10	33018260	33018260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctatttttttctatttagCgtttcctttagaaatcaaaa	3	6	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:33018260C>T	uc001iwn.3	+	10	1174	c.701C>T	c.(700-702)ACG>ATG	p.T234M	C10orf68_uc001iwl.1_Missense_Mutation_p.T242M|C10orf68_uc001iwm.1_Missense_Mutation_p.T210M|C10orf68_uc010qei.1_Missense_Mutation_p.T146M|C10orf68_uc001iwo.3_RNA	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	234										skin(2)|ovary(1)	3						TTCTATTTAGCGTTTCCTTTA	0.313													T	33018260	C	T	33018260	3	4	65	1	0	0	0	0	1	0	0	0	1613	782	27	1	731	1	C10orf68	10	33018260	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	3196764	33018260	102516487	533	47359											
CUL2	8453	broad.mit.edu	37	chr10	35299267	35299267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtagctgtattcatctgccGacgcctggctgcgttctatg	11	12	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:35299267G>A	uc001ixv.2	-	21	2420	c.2210C>T	c.(2209-2211)TCG>TTG	p.S737L	CUL2_uc009xma.2_Missense_Mutation_p.S606L|CUL2_uc010qer.1_Missense_Mutation_p.S756L|CUL2_uc001ixw.2_Missense_Mutation_p.S737L	NM_003591	NP_003582	Q13617	CUL2_HUMAN	cullin 2	737					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			ovary(3)	3						TTCATCTGCCGACGCCTGGCT	0.463													A	35299267	G	A	35299267	3	1	65	1	0	0	0	0	1	0	0	0	4055	1059	37	1	31	1	CUL2	10	35299267	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2281007	35299267	100235480	534	47360											
GJD4	219770	broad.mit.edu	37	chr10	35896743	35896743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgtcctgcaccgaggagCcacgctcgccgcgctgggcc	13	17	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:35896743C>T	uc001iyy.1	+	2	460	c.302C>T	c.(301-303)GCC>GTC	p.A101V		NM_153368	NP_699199	Q96KN9	CXD4_HUMAN	connexin40.1	101	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane				large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						CACCGAGGAGCCACGCTCGCC	0.746													T	35896743	C	T	35896743	3	4	65	1	0	0	0	0	1	0	0	0	6419	739	26	2	308	2	GJD4	10	35896743	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	597476	35896743	99638004	535	47361											
PCDH15	65217	broad.mit.edu	37	chr10	55582606	55582606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaatttgcctcttcagttGtaagcaatggattgctgcta	8	8	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:55582606G>A	uc001jju.1	-	33	5275	c.4880C>T	c.(4879-4881)ACA>ATA	p.T1627I	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.T1624I|PCDH15_uc010qhw.1_Missense_Mutation_p.T1587I|PCDH15_uc010qhx.1_Missense_Mutation_p.T1558I|PCDH15_uc010qhy.1_Missense_Mutation_p.T1634I|PCDH15_uc010qhz.1_Missense_Mutation_p.T1629I|PCDH15_uc010qia.1_Missense_Mutation_p.T1607I|PCDH15_uc010qib.1_Missense_Mutation_p.T1604I	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1627	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CTCTTCAGTTGTAAGCAATGG	0.413										HNSCC(58;0.16)			A	55582606	G	A	55582606	3	1	65	1	0	0	0	0	1	0	0	0	11511	1377	48	4	2597	4	PCDH15	10	55582606	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	19685863	55582606	79952141	536	47362											
ANK3	288	broad.mit.edu	37	chr10	61833777	61833777	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacagacctgccagttcttTggaaggatcccgcccggact	10	13	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:61833777T>C	uc001jky.2	-	37	7054	c.6862A>G	c.(6862-6864)AAA>GAA	p.K2288E	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2288					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GCCAGTTCTTTGGAAGGATCC	0.502													C	61833777	T	C	61833777	3	2	65	1	0	0	0	0	1	0	0	0	622	1821	63	3	6612	3	ANK3	10	61833777	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	6251171	61833777	73700970	537	47363											
ZNF365	22891	broad.mit.edu	37	chr10	64403708	64403708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgcgctgggtcagataaCcatcactgtctccaggtaaa	10	11	4	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:64403708C>T	uc001jmd.1	+	2	357	c.23C>T	c.(22-24)ACC>ATC	p.T8I	ZNF365_uc001jmc.2_Intron|ZNF365_uc001jme.1_RNA|ZNF365_uc001jmf.1_RNA|ZNF365_uc009xpg.1_RNA	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform D	8										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGTCAGATAACCATCACTGTC	0.458													T	64403708	C	T	64403708	3	4	65	1	0	0	0	0	1	0	0	0	17866	507	18	4	1503	4	ZNF365	10	64403708	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2569931	64403708	71131039	538	47364											
EGR2	1959	broad.mit.edu	37	chr10	64574120	64574120	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaatggagaacttgcccAtgtaagtgaaggtctggttt	13	6	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:64574120A>G	uc010qim.1	-	3	432	c.278T>C	c.(277-279)ATG>ACG	p.M93T	EGR2_uc010qin.1_Missense_Mutation_p.M43T|EGR2_uc001jmi.2_Missense_Mutation_p.M93T|EGR2_uc010qio.1_Missense_Mutation_p.M106T|EGR2_uc009xph.2_Missense_Mutation_p.M93T	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	93					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GAACTTGCCCATGTAAGTGAA	0.507													G	64574120	A	G	64574120	3	3	65	1	0	0	0	0	1	0	0	0	4972	217	8	3	1156	3	EGR2	10	64574120	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	170412	64574120	70960627	539	47365											
KIAA1274	27143	broad.mit.edu	37	chr10	72299505	72299505	+	Frame_Shift_Del	DEL	C	C	-													ccccatgccggacttctgtgCcccccgagaggaggtgaggg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:72299504_72299504GC>G	uc001jrd.4	+	14	2175	c.1894_1894GC>G	c.(1894-1896)gccfs	p.A632fs	KIAA1274_uc001jre.4_5'UTR	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	632										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						GGACTTCTGTGCCCCCCGAGA	0.652													-	72299505	C	-	72299505	7	5	65	1	0	1	0	1	0	0	0	0	8220	739	26	0	1949	0	KIAA1274	10	72299505	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	7725385	72299505	63235242	540	47366											
DLG5	9231	broad.mit.edu	37	chr10	79614032	79614032	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcacacctcttcaaggcGttggtgtgctggttctgcag	11	12	4	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:79614032G>A	uc001jzk.2	-	4	703	c.633C>T	c.(631-633)AAC>AAT	p.N211N	DLG5_uc001jzj.2_5'Flank|DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	211					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCTTCAAGGCGTTGGTGTGCT	0.592													A	79614032	G	A	79614032	2	1	65	1	0	0	0	0	0	0	0	1	4558	1136	40	1		1	DLG5	10	79614032	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	7314527	79614032	55920715	541	47367											
IFIT2	3433	broad.mit.edu	37	chr10	91066903	91066903	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccatccaccactttatagAgggtgtaaaaataaaccaga	8	9	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:91066903A>C	uc009xts.2	+	2	1365	c.1190A>C	c.(1189-1191)GAG>GCG	p.E397A	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	interferon-induced protein with	397	TPR 6.				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			ovary(1)|skin(1)	2		Colorectal(252;0.0161)				CACTTTATAGAGGGTGTAAAA	0.403													C	91066903	A	C	91066903	3	2	65	1	0	0	0	0	1	0	0	0	7523	304	11	5	1196	5	IFIT2	10	91066903	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	11452871	91066903	44467844	542	47368											
RPP30	10556	broad.mit.edu	37	chr10	92656136	92656136	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaccaactgccgagcagcGcttctccatggaggtaagca	10	14	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:92656136G>A	uc009xtx.2	+	10	719	c.684G>A	c.(682-684)GCG>GCA	p.A228A	RPP30_uc001khd.2_Silent_p.A228A	NM_006413	NP_006404	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit isoform b	228					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity				0						GCCGAGCAGCGCTTCTCCATG	0.478													A	92656136	G	A	92656136	2	1	65	1	0	0	0	0	0	0	0	1	13612	1074	38	1		1	RPP30	10	92656136	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1589233	92656136	42878611	543	47369											
MYOF	26509	broad.mit.edu	37	chr10	95076536	95076536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgatcagcctgggtgggattCgaaattccgtttggtcaata	12	7	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:95076536C>T	uc001kin.2	-	50	5756	c.5633G>A	c.(5632-5634)CGA>CAA	p.R1878Q	MYOF_uc001kio.2_Missense_Mutation_p.R1865Q|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1878	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						GGGTGGGATTCGAAATTCCGT	0.403													T	95076536	C	T	95076536	3	4	65	1	0	0	0	0	1	0	0	0	10089	884	31	1	572	1	MYOF	10	95076536	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2420400	95076536	40458211	544	47370											
CNNM1	26507	broad.mit.edu	37	chr10	101147941	101147941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgggctgagaagccccagcGaggtagtgtacctgaggatg	16	9	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:101147941G>A	uc001kpp.3	+	9	2846	c.2557G>A	c.(2557-2559)GAG>AAG	p.E853K	CNNM1_uc010qpi.1_Missense_Mutation_p.E874K|CNNM1_uc009xwf.2_Intron|CNNM1_uc009xwg.2_Missense_Mutation_p.E253K	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	853					ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		AAGCCCCAGCGAGGTAGTGTA	0.607													A	101147941	G	A	101147941	3	1	65	1	0	0	0	0	1	0	0	0	3612	1059	37	1	2591	1	CNNM1	10	101147941	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	6071405	101147941	34386806	545	47371											
CPN1	1369	broad.mit.edu	37	chr10	101824970	101824970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagagcttgtcgtcaggcGtgggggtgctggcggtgcgg	22	7	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:101824970G>A	uc001kql.2	-	4	994	c.734C>T	c.(733-735)ACG>ATG	p.T245M		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	245	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GTCGTCAGGCGTGGGGGTGCT	0.607													A	101824970	G	A	101824970	3	1	65	1	0	0	0	0	1	0	0	0	3809	1145	40	1	666	1	CPN1	10	101824970	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	677029	101824970	33709777	546	47372											
C10orf2	56652	broad.mit.edu	37	chr10	102749148	102749148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggcctccgctggagccGctttccagacctcaatcgta	10	15	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:102749148G>A	uc001ksf.2	+	1	1856	c.1181G>A	c.(1180-1182)CGC>CAC	p.R394H	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Missense_Mutation_p.R394H|C10orf2_uc001ksi.2_Intron|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksh.2_Intron	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A	394	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CGCTGGAGCCGCTTTCCAGAC	0.542													A	102749148	G	A	102749148	3	1	65	1	0	0	0	0	1	0	0	0	1597	1087	38	1	1183	1	C10orf2	10	102749148	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	924178	102749148	32785599	547	47373											
PDCD11	22984	broad.mit.edu	37	chr10	105178275	105178275	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccacaacatccgtgctttcCtccccacatctcatctgtcg	4	19	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:105178275C>A	uc001kwy.1	+	15	2077	c.1990C>A	c.(1990-1992)CTC>ATC	p.L664I		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	664	S1 motif 7.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCGTGCTTTCCTCCCCACATC	0.537													A	105178275	C	A	105178275	3	1	65	1	0	0	0	0	1	0	0	0	11617	681	24	5	2044	5	PDCD11	10	105178275	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2429127	105178275	30356472	548	47374											
ABLIM1	3983	broad.mit.edu	37	chr10	116247743	116247743	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttttcctcggtcttcgtagAttgcttacagtcgggatgcc	10	11	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:116247743A>T	uc010qsg.1	-	8	1114	c.1015T>A	c.(1015-1017)TCT>ACT	p.S339T	ABLIM1_uc010qsh.1_Missense_Mutation_p.S279T|ABLIM1_uc010qsi.1_Missense_Mutation_p.S279T|ABLIM1_uc010qsk.1_Missense_Mutation_p.S263T|ABLIM1_uc009xyp.2_Missense_Mutation_p.S273T|ABLIM1_uc010qsf.1_Missense_Mutation_p.S23T|ABLIM1_uc009xyn.2_Missense_Mutation_p.S16T|ABLIM1_uc010qsj.1_Missense_Mutation_p.S16T|ABLIM1_uc009xyo.2_Missense_Mutation_p.S187T	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	339	LIM zinc-binding 4.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GTCTTCGTAGATTGCTTACAG	0.483													T	116247743	A	T	116247743	3	4	65	1	0	0	0	0	1	0	0	0	94	333	12	5	1469	5	ABLIM1	10	116247743	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	11069468	116247743	19287004	549	47375											
BAG3	9531	broad.mit.edu	37	chr10	121429568	121429568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaactgaggcggcagcagCggctcctcagaggtcccagt	14	14	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:121429568C>T	uc001lem.2	+	2	692	c.386C>T	c.(385-387)GCG>GTG	p.A129V	BAG3_uc001lel.2_Missense_Mutation_p.A129V	NM_004281	NP_004272	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	129	WW 2.				anti-apoptosis|apoptosis|protein folding	cytosol				ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GCGGCAGCAGCGGCTCCTCAG	0.632													T	121429568	C	T	121429568	3	4	65	1	0	0	0	0	1	0	0	0	1288	768	27	1	392	1	BAG3	10	121429568	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	5181825	121429568	14105179	550	47376											
SEC23IP	11196	broad.mit.edu	37	chr10	121691686	121691686	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatgggatctgatttgaagCagggttttattagctctctc	11	6	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:121691686C>T	uc001leu.1	+	16	2686	c.2614C>T	c.(2614-2616)CAG>TAG	p.Q872*	SEC23IP_uc010qtc.1_Nonsense_Mutation_p.Q661*|SEC23IP_uc009xzk.1_RNA	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	872	DDHD.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TGATTTGAAGCAGGGTTTTAT	0.408													T	121691686	C	T	121691686	4	4	65	1	0	0	0	0	0	1	0	0	13993	711	25	2	2676	2	SEC23IP	10	121691686	Nonsense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	262118	121691686	13843061	551	47377											
TACC2	10579	broad.mit.edu	37	chr10	123842944	123842944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggaattcctcagggcctGccatctccctaggagcaatt	9	13	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:123842944G>A	uc001lfv.2	+	4	1289	c.929G>A	c.(928-930)TGC>TAC	p.C310Y	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.C310Y|TACC2_uc010qtv.1_Missense_Mutation_p.C310Y	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	310						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTCAGGGCCTGCCATCTCCCT	0.582													A	123842944	G	A	123842944	3	1	65	1	0	0	0	0	1	0	0	0	15499	1319	46	2	939	2	TACC2	10	123842944	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2151258	123842944	11691803	552	47378											
FAM175B	23172	broad.mit.edu	37	chr10	126517969	126517970	+	Frame_Shift_Ins	INS	-	-	T													tttgtcttccagtactgactINStttttgacaaggatggagtg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:126517968_126517969C>CT	uc001lib.4	+	6	630_631	c.585_586C>CT	c.(583-588)gactttfs	p.D195fs		NM_032182	NP_115558	Q15018	F175B_HUMAN	Homo sapiens family with sequence similarity 175, member B (FAM175B), mRNA.	195						BRISC complex	polyubiquitin binding			NS(1)	1						CCAGTACTGACTTTTTTGACAA	0.361													T	126517970	-	T	126517969	7	5	65	1	0	1	1	0	0	0	0	0	5498	1609	56	0	612	0	FAM175B	10	126517969	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	2675025	126517969	9016778	553	47379											
MTG1	92170	broad.mit.edu	37	chr10	135233048	135233048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcgtgctgaagagtgtgGctgtgaagctggggaagacg	19	6	0	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:135233048G>A	uc001lnd.2	+	10	921	c.817G>A	c.(817-819)GCT>ACT	p.A273T	MTG1_uc010qve.1_Missense_Mutation_p.A138T	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN	GTP_binding protein precursor	273						mitochondrion	GTP binding|protein binding			skin(1)	1		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		GAAGAGTGTGGCTGTGAAGCT	0.647													A	135233048	G	A	135233048	3	1	65	1	0	0	0	0	1	0	0	0	9926	1203	42	2	855	2	MTG1	10	135233048	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	8715079	135233048	301699	554	47380											
RNH1	6050	broad.mit.edu	37	chr11	502099	502099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggagcagagggaggagctCggcccatctagcgtcgctca	15	12	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:502099C>T	uc001lpk.1	-	1	1472	c.64G>A	c.(64-66)GAG>AAG	p.E22K	RNH1_uc001lpl.1_Missense_Mutation_p.E22K|RNH1_uc001lpm.1_Missense_Mutation_p.E22K|RNH1_uc001lpn.1_Missense_Mutation_p.E22K|RNH1_uc001lpo.1_Missense_Mutation_p.E22K|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Missense_Mutation_p.E22K|RNH1_uc001lpt.1_5'UTR|RNH1_uc001lpq.1_Missense_Mutation_p.E22K|RNH1_uc001lpr.1_Missense_Mutation_p.E22K|RNH1_uc001lps.1_Missense_Mutation_p.E22K|RNH1_uc009ybx.1_Missense_Mutation_p.E22K	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	22	LRR 1.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGAGGAGCTCGGCCCATCTA	0.667													T	502099	C	T	502099	3	4	65	1	0	0	0	0	1	0	0	0	13504	893	31	1	1357	1	RNH1	11	502099	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08		502099	134504417	555	47381											
PHRF1	57661	broad.mit.edu	37	chr11	598487	598487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgcgcactcccgcccgaCggaagaggaagacaagtaag	13	14	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:598487C>T	uc001lqe.2	+	9	1140	c.1009C>T	c.(1009-1011)CGG>TGG	p.R337W	PHRF1_uc010qwc.1_Missense_Mutation_p.R337W|PHRF1_uc010qwd.1_Missense_Mutation_p.R336W|PHRF1_uc010qwe.1_Missense_Mutation_p.R333W|PHRF1_uc009ybz.1_Missense_Mutation_p.R128W	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	337	Arg-rich.						RNA polymerase binding|zinc ion binding				0						TCCCGCCCGACGGAAGAGGAA	0.657													T	598487	C	T	598487	3	4	65	1	0	0	0	0	1	0	0	0	11861	527	19	1	1039	1	PHRF1	11	598487	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	96388	598487	134408029	556	47382											
MUC6	4588	broad.mit.edu	37	chr11	1016540	1016543	+	Frame_Shift_Del	DEL	GAAG	GAAG	-													agccaagacgaggaggatatGaaggaagaagaggctgtagc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:1016539_1016542TGAAG>T	uc001lsw.2	-	30	6310_6313	c.6259_6262CTTCA>A	c.(6259-6264)ttcatafs	p.F2087fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	2087	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGGAGGATATGAAGGAAGAAGAG	0.564													-	1016543	GAAG	-	1016540	7	5	65	1	0	1	0	1	0	0	0	0	9980	1281	45	0	1070	0	MUC6	11	1016540	Frame_Shift_Del	DEL	GAAG	TCGA-BR-8081-01A-11D-2340-08	418053	1016540	133989976	557	47383											
MUC5B	727897	broad.mit.edu	37	chr11	1251245	1251246	+	Frame_Shift_Ins	INS	-	-	G													cctccccagcacctgctccgINSgggggctatggcagtgccag							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:1251244_1251245C>CG	uc001lta.3	+	10	1289_1290	c.1230_1231C>CG	c.(1228-1233)tccgggfs	p.S410fs	MUC5B_uc021qbr.1_Intron|MUC5B_uc009yct.2_Frame_Shift_Ins_p.S410fs	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	410					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCACCTGCTCCGGGGGGCTATG	0.688													G	1251246	-	G	1251245	7	5	65	1	0	1	1	0	0	0	0	0	9979	1116	39	0	1282	0	MUC5B	11	1251245	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	234705	1251245	133755271	558	47384											
KRTAP5-5	439915	broad.mit.edu	37	chr11	1651497	1651497	+	Frame_Shift_Del	DEL	G	G	-													aggggggctgtggctcctgtGgggggtccaaggggggctgt							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:1651496_1651496TG>T	uc001lty.3	+	0	464	c.426_426TG>T	c.(424-426)tgtfs	p.C142fs	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	142	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GTGGCTCCTGTGGGGGGTCCA	0.687													-	1651497	G	-	1651497	7	5	65	1	0	1	0	1	0	0	0	0	8564	1348	47	0	429	0	KRTAP5-5	11	1651497	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	400252	1651497	133355019	559	47385											
OR51G1	79324	broad.mit.edu	37	chr11	4945194	4945194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgggttgcagacggccaCgtagcggtcaatggacatgg	16	9	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:4945194C>T	uc010qyr.1	-	1	376	c.376G>A	c.(376-378)GTG>ATG	p.V126M		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGACGGCCACGTAGCGGTCA	0.507													T	4945194	C	T	4945194	3	4	65	1	0	0	0	0	1	0	0	0	11098	536	19	1	591	1	OR51G1	11	4945194	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	3293697	4945194	130061322	560	47386											
CYB5R2	51700	broad.mit.edu	37	chr11	7694036	7694037	+	Frame_Shift_Del	DEL	CT	CT	-													gggtcctgtaaggtgattggCtctctcctcctggagttcat							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:7694035_7694036GCT>G	uc001mfm.3	-	1	259_260	c.21_22AGC>C	c.(19-24)gagccafs	p.E7fs	CYB5R2_uc001mfn.3_Non-coding_Transcript|CYB5R2_uc009yfk.3_Frame_Shift_Del_p.E7fs|CYB5R2_uc009yfl.1_Frame_Shift_Del_p.E7fs	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	Homo sapiens cytochrome b5 reductase 2 (CYB5R2), mRNA.	7					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity	p.E7E(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGGTGATTGGCTCTCTCCTCC	0.559													-	7694037	CT	-	7694036	7	5	65	1	0	1	0	1	0	0	0	0	4127	796	28	0	841	0	CYB5R2	11	7694036	Frame_Shift_Del	DEL	CT	TCGA-BR-8081-01A-11D-2340-08	2748842	7694036	127312480	561	47387											
DENND5A	23258	broad.mit.edu	37	chr11	9161272	9161272	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtgatgttgaactcctgCaatgtctgcagcacacgaat	10	10	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:9161272C>T	uc001mhl.2	-	23	4065	c.3810G>A	c.(3808-3810)TTG>TTA	p.L1270L	DENND5A_uc001mhk.2_Silent_p.L613L|DENND5A_uc010rbw.1_3'UTR	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	1270	RUN 2.									liver(1)	1						TGAACTCCTGCAATGTCTGCA	0.532													T	9161272	C	T	9161272	2	4	65	1	0	0	0	0	0	0	0	1	4436	709	25	2		2	DENND5A	11	9161272	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1467236	9161272	125845244	562	47388											
SBF2	81846	broad.mit.edu	37	chr11	9878270	9878270	+	Splice_Site	DEL	A	A	-													gtcatcaggaagcttatcctAaaaaataaagcaacacaatc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:9878269_9878269TA>T	uc001mib.2	-	19	2239	c.2101_splice	c.e19-1	p.D701_splice	SBF2_uc001mif.3_Splice_Site_p.D457_splice|U80769_uc001mig.3_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	701					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAGCTTATCCTAAAAAATAAA	0.408													-	9878270	A	-	9878270	8	5	65	1	0	1	0	1	0	0	1	0	13859	377	13	0		0	SBF2	11	9878270	Splice_Site	DEL	A	TCGA-BR-8081-01A-11D-2340-08	716998	9878270	125128246	563	47389											
LGR4	55366	broad.mit.edu	37	chr11	27390555	27390555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcctataaacaatttggacGaaggcagtgatgtacaagat	10	6	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:27390555G>A	uc001mrj.3	-	18	2200	c.1715C>T	c.(1714-1716)TCG>TTG	p.S572L	LGR4_uc001mrk.3_Missense_Mutation_p.S548L	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	leucine-rich repeat-containing G protein-coupled	572	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1						CAATTTGGACGAAGGCAGTGA	0.378													A	27390555	G	A	27390555	3	1	65	1	0	0	0	0	1	0	0	0	8756	1059	37	1	1144	1	LGR4	11	27390555	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	17512285	27390555	107615961	564	47390											
HIPK3	10114	broad.mit.edu	37	chr11	33358693	33358694	+	Frame_Shift_Ins	INS	-	-	T													gggtactaaatccacaagatINSttttttgcaaagaaacagat							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:33358692_33358693A>AT	uc001mul.1	+	3	1563_1564	c.1293_1294A>AT	c.(1291-1296)agatttfs	p.R431fs	HIPK3_uc001mum.1_Frame_Shift_Ins_p.R431fs|HIPK3_uc009yjv.1_Frame_Shift_Ins_p.R431fs|HIPK3_uc009yjw.1_Non-coding_Transcript	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	431	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.R431I(2)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AATCCACAAGATTTTTTTGCAA	0.312													T	33358694	-	T	33358693	7	5	65	1	0	1	1	0	0	0	0	0	7118	1493	52	0	1304	0	HIPK3	11	33358693	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	5968138	33358693	101647823	565	47391											
HIPK3	10114	broad.mit.edu	37	chr11	33362656	33362656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaaattttactaaaatcGgaacattaagaagtcaggta	7	6	1	1	rs140757794	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:33362656G>A	uc001mul.1	+	7	2026	c.1756G>A	c.(1756-1758)GGA>AGA	p.G586R	HIPK3_uc001mum.1_Missense_Mutation_p.G586R|HIPK3_uc009yjv.1_Missense_Mutation_p.G586R	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	586					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						TACTAAAATCGGAACATTAAG	0.318													A	33362656	G	A	33362656	3	1	65	1	0	0	0	0	1	0	0	0	7118	1117	39	1	1778	1	HIPK3	11	33362656	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	3963	33362656	101643860	566	47392											
C11orf41	25758	broad.mit.edu	37	chr11	33565180	33565180	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taggagacatgaaaaagccaGcaaccacagatgttttctgg	10	8	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:33565180G>T	uc001mup.3	+	1	1304	c.1180G>T	c.(1180-1182)GCA>TCA	p.A394S	C11orf41_uc001mun.1_Missense_Mutation_p.A394S	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	394						integral to membrane				ovary(2)	2						GAAAAAGCCAGCAACCACAGA	0.428											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	33565180	G	T	33565180	3	4	65	1	0	0	0	0	1	0	0	0	1640	971	34	5	1182	5	C11orf41	11	33565180	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	202524	33565180	101441336	567	47393											
C11orf41	25758	broad.mit.edu	37	chr11	33565323	33565323	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagttgggaaactcatttAgctccaacagctcctcccaa	6	13	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:33565323A>G	uc001mup.3	+	1	1447	c.1323A>G	c.(1321-1323)TTA>TTG	p.L441L	C11orf41_uc001mun.1_Silent_p.L441L	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	441						integral to membrane				ovary(2)	2						AAACTCATTTAGCTCCAACAG	0.418											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	33565323	A	G	33565323	2	3	65	1	0	0	0	0	0	0	0	1	1640	417	15	3		3	C11orf41	11	33565323	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	143	33565323	101441193	568	47394											
PHF21A	51317	broad.mit.edu	37	chr11	46001356	46001356	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagctgactgctgggcGtggtggtggtggtactgctg	19	8	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:46001356G>A	uc001ncc.3	-	6	939	c.315C>T	c.(313-315)CAC>CAT	p.H105H	PHF21A_uc001ncb.3_Silent_p.H105H|PHF21A_uc009ykx.2_Silent_p.H105H|PHF21A_uc001nce.2_Silent_p.H105H	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	BRAF35/HDAC2 complex isoform a	105	Gln-rich.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						actgctgggcgtggtggtggt	0.259													A	46001356	G	A	46001356	2	1	65	1	0	0	0	0	0	0	0	1	11833	1136	40	1		1	PHF21A	11	46001356	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	12436033	46001356	89005160	569	47395											
AMBRA1	55626	broad.mit.edu	37	chr11	46455113	46455113	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgcagcaggatccttcGtgaggccaagcccaccatta	13	12	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:46455113G>A	uc010rgu.1	-	14	3247	c.2887C>T	c.(2887-2889)CGA>TGA	p.R963*	AMBRA1_uc010rgt.1_Nonsense_Mutation_p.R529*|AMBRA1_uc009ylc.1_Nonsense_Mutation_p.R934*|AMBRA1_uc001ncu.1_Nonsense_Mutation_p.R873*|AMBRA1_uc001ncv.2_Nonsense_Mutation_p.R966*|AMBRA1_uc001ncw.2_Nonsense_Mutation_p.R844*|AMBRA1_uc001ncx.2_Nonsense_Mutation_p.R903*	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	963					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		p.R873*(1)		large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGGATCCTTCGTGAGGCCAAG	0.562													A	46455113	G	A	46455113	4	1	65	1	0	0	0	0	0	1	0	0	565	1153	40	1	1029	1	AMBRA1	11	46455113	Nonsense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	453757	46455113	88551403	570	47396											
LRP4	4038	broad.mit.edu	37	chr11	46895077	46895077	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccacccagtccactgccaGcccgtcagtggtcttcagcc	10	18	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:46895077G>T	uc001ndn.3	-	29	4443	c.4297C>A	c.(4297-4299)CTG>ATG	p.L1433M	uc001ndl.2_RNA	NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1433	Extracellular (Potential).|LDL-receptor class B 16.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		TCCACTGCCAGCCCGTCAGTG	0.587													T	46895077	G	T	46895077	3	4	65	1	0	0	0	0	1	0	0	0	8959	962	34	5	1460	5	LRP4	11	46895077	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	439964	46895077	88111439	571	47397											
PSMC3	5702	broad.mit.edu	37	chr11	47444173	47444173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgaagatgatagagggcGctttctccttggccagggca	13	9	1	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:47444173G>A	uc001nfh.2	-	8	1030	c.836C>T	c.(835-837)GCG>GTG	p.A279V	PSMC3_uc009ylr.1_Missense_Mutation_p.A237V	NM_002804	NP_002795	P17980	PRS6A_HUMAN	proteasome 26S ATPase subunit 3	279					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			ovary(4)	4				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GATAGAGGGCGCTTTCTCCTT	0.587													A	47444173	G	A	47444173	3	1	65	1	0	0	0	0	1	0	0	0	12687	1087	38	1	503	1	PSMC3	11	47444173	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	549096	47444173	87562343	572	47398											
RAPSN	5913	broad.mit.edu	37	chr11	47470379	47470379	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggctgtgaccaggcagccCagcacgcggaagcgccccat	14	15	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:47470379C>T	uc001nfi.1	-	1	352	c.138G>A	c.(136-138)CTG>CTA	p.L46L	RAPSN_uc001nfj.1_Silent_p.L46L|RAPSN_uc009yls.1_Silent_p.L46L	NM_005055	NP_005046	Q13702	RAPSN_HUMAN	43 kD receptor-associated protein of the synapse	46					synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			ovary(1)	1						CCAGGCAGCCCAGCACGCGGA	0.647													T	47470379	C	T	47470379	2	4	65	1	0	0	0	0	0	0	0	1	13051	581	21	4		4	RAPSN	11	47470379	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	26206	47470379	87536137	573	47399											
PTPRJ	5795	broad.mit.edu	37	chr11	48149351	48149351	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgctattcaggtttttgaCgtcaccgctgtgaacatcag	10	9	3	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:48149351C>T	uc001ngp.3	+	7	1468	c.1113C>T	c.(1111-1113)GAC>GAT	p.D371D	PTPRJ_uc001ngo.3_Silent_p.D371D	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	371	Extracellular (Potential).|Fibronectin type-III 4.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						AGGTTTTTGACGTCACCGCTG	0.493													T	48149351	C	T	48149351	2	4	65	1	0	0	0	0	0	0	0	1	12804	535	19	1		1	PTPRJ	11	48149351	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	678972	48149351	86857165	574	47400											
OR5D13	390142	broad.mit.edu	37	chr11	55541171	55541171	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacctaaactgttggagaaCttggttgtggaatacagaac	10	7	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:55541171C>T	uc010ril.1	+	1	258	c.258C>T	c.(256-258)AAC>AAT	p.N86N		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	86	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				TGTTGGAGAACTTGGTTGTGG	0.383													T	55541171	C	T	55541171	2	4	65	1	0	0	0	0	0	0	0	1	11154	564	20	4		4	OR5D13	11	55541171	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	7391820	55541171	79465345	575	47401											
OR5R1	219479	broad.mit.edu	37	chr11	56185444	56185444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggaaaggaatggtgttgcGttccacaacaaaattcacca	9	8	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:56185444G>A	uc010rji.1	-	1	265	c.265C>T	c.(265-267)CGC>TGC	p.R89C		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	89	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					ATGGTGTTGCGTTCCACAACA	0.463													A	56185444	G	A	56185444	3	1	65	1	0	0	0	0	1	0	0	0	11180	1145	40	1	711	1	OR5R1	11	56185444	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	644273	56185444	78821072	576	47402											
OR5M9	390162	broad.mit.edu	37	chr11	56230791	56230791	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtgatcatgtaaaccgctagGaacaccacaaaaaagagaac	8	9	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:56230791G>T	uc010rjj.1	-	1	87	c.87C>A	c.(85-87)TTC>TTA	p.F29L		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					AAACCGCTAGGAACACCACAA	0.438													T	56230791	G	T	56230791	3	4	65	1	0	0	0	0	1	0	0	0	11177	1165	41	5	847	5	OR5M9	11	56230791	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	45347	56230791	78775725	577	47403											
OR4D9	390199	broad.mit.edu	37	chr11	59282922	59282922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcttgacactttctactgCgatgtcccccaggtcctcaa	7	14	3	1	rs145873782		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:59282922C>T	uc010rkv.1	+	1	537	c.537C>T	c.(535-537)TGC>TGT	p.C179C		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D,	179	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTTTCTACTGCGATGTCCCCC	0.493													T	59282922	C	T	59282922	2	4	65	1	0	0	0	0	0	0	0	1	11059	776	27	1		1	OR4D9	11	59282922	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	3052131	59282922	75723594	578	47404											
PLCB3	5331	broad.mit.edu	37	chr11	64032517	64032517	+	Frame_Shift_Del	DEL	C	C	-													ccccagcccactggatgcctCcccccgccggccccctggcc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:64032517delC	uc001nzb.2	+	23	2747	c.2747delC	c.(2746-2748)TCCfs	p.S916fs	PLCB3_uc009ypg.1_Frame_Shift_Del_p.S916fs|PLCB3_uc009yph.1_Frame_Shift_Del_p.S849fs|PLCB3_uc009ypi.2_Frame_Shift_Del_p.S916fs	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	916					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						CTGGATGCCTCCCCCCGCCGG	0.701													-	64032517	C	-	64032517	7	5	65	1	0	1	0	1	0	0	0	0	12029	855	30	0	2837	0	PLCB3	11	64032517	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	4749595	64032517	70973999	579	47405											
ATG2A	23130	broad.mit.edu	37	chr11	64679671	64679671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaatcagccacaggtcttCggcacctagcgggcggctct	11	15	4	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:64679671C>T	uc001obx.2	-	8	1088	c.973G>A	c.(973-975)GAA>AAA	p.E325K		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	325							protein binding			ovary(1)|central_nervous_system(1)	2						CACAGGTCTTCGGCACCTAGC	0.652													T	64679671	C	T	64679671	3	4	65	1	0	0	0	0	1	0	0	0	1093	893	31	1	4979	1	ATG2A	11	64679671	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	647154	64679671	70326845	580	47406											
KAT5	10524	broad.mit.edu	37	chr11	65480454	65480455	+	Frame_Shift_Ins	INS	-	-	C													acctaaagaagatccagttcINScccaagaaagaggccaagac							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:65480453_65480454T>TC	uc001ofi.3	+	3	475_476	c.209_210T>TC	c.(208-210)ttcfs	p.F70fs	KAT5_uc001ofj.3_Frame_Shift_Ins_p.F70fs|KAT5_uc001ofk.3_Frame_Shift_Ins_p.F103fs|KAT5_uc010roo.2_Frame_Shift_Ins_p.F103fs|KAT5_uc001ofl.3_5'UTR	NM_006388	NP_006379	Q92993	KAT5_HUMAN	Homo sapiens K(lysine) acetyltransferase 5 (KAT5), transcript variant 2, mRNA.	70					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|androgen receptor signaling pathway|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						AAGATCCAGTTCCCCAAGAAAG	0.554													C	65480455	-	C	65480454	7	5	65	1	0	1	1	0	0	0	0	0	7983	854	30	0	319	0	KAT5	11	65480454	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	800783	65480454	69526062	581	47407											
DKFZp761E198	91056	broad.mit.edu	37	chr11	65545526	65545526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaaaaggctccaggtggCgggacaccaagccctccagg	12	15	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:65545526C>T	uc001ofo.3	-	1	2297	c.2267G>A	c.(2266-2268)CGC>CAC	p.R756H		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	hypothetical protein LOC91056	756							protein binding				0				READ - Rectum adenocarcinoma(159;0.167)		CTCCAGGTGGCGGGACACCAA	0.637													T	65545526	C	T	65545526	3	4	65	1	0	0	0	0	1	0	0	0	4543	768	27	1	202	1	DKFZp761E198	11	65545526	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	65072	65545526	69460990	582	47408											
KLC2	64837	broad.mit.edu	37	chr11	66033656	66033656	+	Frame_Shift_Del	DEL	G	G	-													atgctggtaaagaagctgcaGgggggcaccccccaggagcc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:66033655_66033655AG>A	uc010rov.1	+	13	1937	c.1694_1694AG>A	c.(1693-1695)cagfs	p.Q565fs	KLC2_uc010row.1_Frame_Shift_Del_p.Q565fs|KLC2_uc001ohb.2_Frame_Shift_Del_p.Q565fs|KLC2_uc010rox.1_Frame_Shift_Del_p.Q488fs|KLC2_uc001ohc.2_Frame_Shift_Del_p.Q565fs|KLC2_uc001ohd.2_Frame_Shift_Del_p.Q488fs|KLC2_uc001ohe.1_Frame_Shift_Del_p.Q426fs|RAB1B_uc001ohf.3_5'Flank	NM_001134775	NP_073733	Q9H0B6	KLC2_HUMAN	Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.	565					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AAGAAGCTGCAGGGGGGCACC	0.647													-	66033656	G	-	66033656	7	5	65	1	0	1	0	1	0	0	0	0	8334	991	35	0	1745	0	KLC2	11	66033656	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	488130	66033656	68972860	583	47409											
CNIH2	254263	broad.mit.edu	37	chr11	66050763	66050763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgaggtcatgtatgatgCggtctccatcatgaatgctg	11	9	4	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:66050763C>T	uc001ohi.1	+	5	588	c.356C>T	c.(355-357)GCG>GTG	p.A119V	CNIH2_uc001ohh.2_Missense_Mutation_p.A119V|CNIH2_uc009yrb.1_RNA	NM_182553	NP_872359	Q6PI25	CNIH2_HUMAN	cornichon homolog 2	119	Cytoplasmic (Potential).				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	protein binding				0						ATGTATGATGCGGTCTCCATC	0.547											OREG0021100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	66050763	C	T	66050763	3	4	65	1	0	0	0	0	1	0	0	0	3603	768	27	1	374	1	CNIH2	11	66050763	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	17107	66050763	68955753	584	47410											
TBX10	347853	broad.mit.edu	37	chr11	67402652	67402652	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgggaatggtgaccccagCcggggctcccagccagagct	15	13	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:67402652C>T	uc001omp.2	-	2	178	c.90G>A	c.(88-90)CGG>CGA	p.R30R		NM_005995	NP_005986	O75333	TBX10_HUMAN	T-box 10	30					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						GTGACCCCAGCCGGGGCTCCC	0.642													T	67402652	C	T	67402652	2	4	65	1	0	0	0	0	0	0	0	1	15648	726	26	2		2	TBX10	11	67402652	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1351889	67402652	67603864	585	47411											
SAPS3	55291	broad.mit.edu	37	chr11	68338536	68338536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaatgtcaattaatagaacGaatacttgaagcctgggaaa	8	5	1	2	rs148673066		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:68338536G>A	uc001onw.2	+	12	1574	c.1307G>A	c.(1306-1308)CGA>CAA	p.R436Q	SAPS3_uc001onv.2_Missense_Mutation_p.R436Q|SAPS3_uc001ony.3_Missense_Mutation_p.R436Q|SAPS3_uc001onx.2_Missense_Mutation_p.R436Q|SAPS3_uc009ysh.2_Missense_Mutation_p.R385Q|SAPS3_uc001onu.2_Missense_Mutation_p.R385Q|SAPS3_uc010rqc.1_Missense_Mutation_p.R204Q|SAPS3_uc010rqd.1_Missense_Mutation_p.R148Q	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	SAPS domain family, member 3 isoform 6	436					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding				0			LUAD - Lung adenocarcinoma(13;0.102)			TTAATAGAACGAATACTTGAA	0.284													A	68338536	G	A	68338536	3	1	65	1	0	0	0	0	1	0	0	0	13838	1058	37	1	1345	1	SAPS3	11	68338536	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	935884	68338536	66667980	586	47412											
MRGPRD	116512	broad.mit.edu	37	chr11	68748320	68748320	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagccagatcaccatgcTgttgcctgccatcccgcaca	8	17	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:68748320T>G	uc010rqf.1	-	1	136	c.136A>C	c.(136-138)AGC>CGC	p.S46R		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	46	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(1)	1			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ATCACCATGCTGTTGCCTGCC	0.582													G	68748320	T	G	68748320	3	3	65	1	0	0	0	0	1	0	0	0	9763	1580	55	5	832	5	MRGPRD	11	68748320	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	409784	68748320	66258196	587	47413											
TPCN2	219931	broad.mit.edu	37	chr11	68835058	68835058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggtgctgctgaccacgGccaacaaccccgatggtgcg	12	15	0	1	rs142288453	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:68835058G>A	uc001oos.2	+	8	930	c.814G>A	c.(814-816)GCC>ACC	p.A272T	TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Missense_Mutation_p.A187T|TPCN2_uc010rqg.1_Missense_Mutation_p.A272T	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	272					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCTGACCACGGCCAACAACCC	0.637													A	68835058	G	A	68835058	3	1	65	1	0	0	0	0	1	0	0	0	16393	1203	42	2	844	2	TPCN2	11	68835058	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	86738	68835058	66171458	588	47414											
CTTN	2017	broad.mit.edu	37	chr11	70266595	70266595	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatcaccaggagaaattgCagctgcatgaatcccaaaaa	10	9	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:70266595C>T	uc001opv.3	+	10	975	c.769C>T	c.(769-771)CAG>TAG	p.Q257*	CTTN_uc001opu.2_Nonsense_Mutation_p.Q257*|CTTN_uc001opw.3_Nonsense_Mutation_p.Q257*|CTTN_uc010rqm.1_5'UTR|CTTN_uc001opx.2_5'Flank	NM_005231	NP_005222	Q14247	SRC8_HUMAN	cortactin isoform a	257	Cortactin 5.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGAGAAATTGCAGCTGCATGA	0.448													T	70266595	C	T	70266595	4	4	65	1	0	0	0	0	0	1	0	0	4044	711	25	2	799	2	CTTN	11	70266595	Nonsense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1431537	70266595	64739921	589	47415											
FOLR1	2348	broad.mit.edu	37	chr11	71906954	71906954	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacagggtttaacaagtgCgcagtgggagctgcctgcca	13	10	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:71906954C>T	uc001orz.1	+	6	645	c.507C>T	c.(505-507)TGC>TGT	p.C169C	FOLR1_uc001osa.1_Silent_p.C169C|FOLR1_uc001osb.1_Silent_p.C169C|FOLR1_uc001osc.1_Silent_p.C169C|FOLR1_uc001osd.1_Silent_p.C169C	NM_016724	NP_057936	P15328	FOLR1_HUMAN	folate receptor 1 precursor	169					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			ovary(1)	1						TTAACAAGTGCGCAGTGGGAG	0.512													T	71906954	C	T	71906954	2	4	65	1	0	0	0	0	0	0	0	1	5981	776	27	1		1	FOLR1	11	71906954	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1640359	71906954	63099562	590	47416											
RELT	84957	broad.mit.edu	37	chr11	73106534	73106534	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgagagcaacctggtcatcTgaggggcggtctagtctaag	15	8	4	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:73106534T>C	uc001otv.2	+	11	1456	c.1291T>C	c.(1291-1293)TGA>CGA	p.*431R	RELT_uc001otw.2_Nonstop_Mutation_p.*431R|RELT_uc001otx.2_RNA	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor precursor	431						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			upper_aerodigestive_tract(1)	1						cctggtcatctgaggggcggt	0.03													C	73106534	T	C	73106534	4	2	65	1	0	0	0	0	0	0	0	0	13221	1593	55	3	1329	3	RELT	11	73106534	Nonstop_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	1199580	73106534	61899982	591	47417											
NEU3	10825	broad.mit.edu	37	chr11	74717419	74717419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttgtttgaatgtgggaCcaagcaagagtgtgagcaga	15	4	0	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:74717419C>T	uc001ovw.2	+	3	1424	c.1268C>T	c.(1267-1269)ACC>ATC	p.T423I	NEU3_uc001ovv.2_Missense_Mutation_p.T413I|NEU3_uc010rrl.1_Missense_Mutation_p.T314I	NM_006656	NP_006647	A8K327	A8K327_HUMAN	sialidase 3	423										ovary(2)	2						GAATGTGGGACCAAGCAAGAG	0.587													T	74717419	C	T	74717419	3	4	65	1	0	0	0	0	1	0	0	0	10343	507	18	4	1278	4	NEU3	11	74717419	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1610885	74717419	60289097	592	47418											
PRKRIR	5612	broad.mit.edu	37	chr11	76062779	76062779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcaaaatctgacactgcaCtgcagagtacaaatgctcgg	8	10	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:76062779C>T	uc001oxh.1	-	5	1415	c.1415G>A	c.(1414-1416)AGT>AAT	p.S472N	PRKRIR_uc010rrz.1_Missense_Mutation_p.S297N	NM_004705	NP_004696	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double	472					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			ovary(2)|pancreas(1)	3						TGACACTGCACTGCAGAGTAC	0.368													T	76062779	C	T	76062779	3	4	65	1	0	0	0	0	1	0	0	0	12526	565	20	4	874	4	PRKRIR	11	76062779	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1345360	76062779	58943737	593	47419											
LRRC32	2615	broad.mit.edu	37	chr11	76372210	76372210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgcctcccccagcagccGctccagcaggccgctgtaca	12	18	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:76372210G>A	uc001oxq.3	-	3	670	c.427C>T	c.(427-429)CGG>TGG	p.R143W	LRRC32_uc001oxr.3_Missense_Mutation_p.R143W|LRRC32_uc010rsf.1_Missense_Mutation_p.R143W	NM_005512	NP_005503	Q14392	LRC32_HUMAN	leucine rich repeat containing 32 precursor	143	Extracellular (Potential).|LRR 4.					integral to plasma membrane					0						CCCAGCAGCCGCTCCAGCAGG	0.687													A	76372210	G	A	76372210	3	1	65	1	0	0	0	0	1	0	0	0	8987	1086	38	1	1565	1	LRRC32	11	76372210	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	309431	76372210	58634306	594	47420											
RSF1	51773	broad.mit.edu	37	chr11	77413116	77413116	+	Frame_Shift_Del	DEL	T	T	-													tcactcagtttaatttctcgTttttttagtggtatcttggc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:77413115_77413115GT>G	uc001oyn.3	-	5	1279	c.1159_1159AC>C	c.(1159-1161)cgafs	p.R387fs	RSF1_uc001oym.3_Frame_Shift_Del_p.R135fs	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	387					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTAATTTCTCGTTTTTTTAGT	0.338													-	77413116	T	-	77413116	7	5	65	1	0	1	0	1	0	0	0	0	13699	1722	60	0	3211	0	RSF1	11	77413116	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	1040906	77413116	57593400	595	47421											
CCDC90B	60492	broad.mit.edu	37	chr11	82989836	82989836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttgataaagcagttaacGctgatacaattgtttctgct	7	7	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:82989836G>A	uc001pae.2	-	3	619	c.257C>T	c.(256-258)GCG>GTG	p.A86V	CCDC90B_uc001pac.2_5'UTR|CCDC90B_uc001pad.2_5'UTR|CCDC90B_uc001paf.2_Missense_Mutation_p.A77V	NM_021825	NP_068597	Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B precursor	86						integral to membrane|mitochondrion|mitochondrion					0		Acute lymphoblastic leukemia(157;0.103)				AGCAGTTAACGCTGATACAAT	0.333													A	82989836	G	A	82989836	3	1	65	1	0	0	0	0	1	0	0	0	2869	1087	38	1	535	1	CCDC90B	11	82989836	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	5576720	82989836	52016680	596	47422											
FAT3	120114	broad.mit.edu	37	chr11	92258089	92258090	+	Frame_Shift_Ins	INS	-	-	T													caagtggaaatcctcagaatINSttttttgccatcaatatcaa							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:92258088_92258089A>AT	uc001pdj.4	+	1	3598_3599	c.3581_3582A>AT	c.(3580-3582)aatfs	p.N1194fs		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1194	Cadherin 11.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AATCCTCAGAATTTTTTTGCCA	0.381										TCGA Ovarian(4;0.039)			T	92258090	-	T	92258089	7	5	65	1	0	1	1	0	0	0	0	0	5691	1490	52	0	3588	0	FAT3	11	92258089	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	9268253	92258089	42748427	597	47423											
HEPHL1	341208	broad.mit.edu	37	chr11	93796776	93796776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggtgagagaagaatatgCacctactccagccgatgcca	11	12	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:93796776C>T	uc001pep.2	+	3	675	c.518C>T	c.(517-519)GCA>GTA	p.A173V		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	173	Plastocyanin-like 1.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GAAGAATATGCACCTACTCCA	0.537													T	93796776	C	T	93796776	3	4	65	1	0	0	0	0	1	0	0	0	7055	710	25	2	528	2	HEPHL1	11	93796776	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1538687	93796776	41209740	598	47424											
KBTBD3	143879	broad.mit.edu	37	chr11	105929633	105929633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctaacacacaacgatgacaCgggattatttcatctttcat	6	10	3	1	rs73554750	by1000genomes	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:105929633C>T	uc001pja.2	-	3	832	c.192G>A	c.(190-192)CCG>CCA	p.P64P	KBTBD3_uc001pjb.2_Silent_p.P64P|KBTBD3_uc009yxm.2_Intron	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	BTB and kelch domain containing 3	60	BTB.									ovary(1)|central_nervous_system(1)	2		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		AACGATGACACGGGATTATTT	0.303													T	105929633	C	T	105929633	2	4	65	1	0	0	0	0	0	0	0	1	7994	523	19	1		1	KBTBD3	11	105929633	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	12132857	105929633	29076883	599	47425											
ATM	472	broad.mit.edu	37	chr11	108114817	108114818	+	Frame_Shift_Ins	INS	-	-	T													aaattccaaatttttggactINSttttttccaaggctattcag							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:108114816_108114817C>CT	uc001pkb.1	+	5	1018_1019	c.633_634C>CT	c.(631-636)gactttfs	p.D211fs	ATM_uc009yxr.1_Frame_Shift_Ins_p.D211fs	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	211					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AATTTTTGGACTTTTTTTCCAA	0.342			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			T	108114818	-	T	108114817	7	5	65	1	0	1	1	0	0	0	0	0	1109	1609	56	0	652	0	ATM	11	108114817	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	2185184	108114817	26891699	600	47426											
ATM	472	broad.mit.edu	37	chr11	108160475	108160475	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtggcttaggaggagcttgGgcctttgttcttcgagacgt	15	7	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:108160475G>T	uc001pkb.1	+	29	4768	c.4383G>T	c.(4381-4383)TGG>TGT	p.W1461C	ATM_uc009yxr.1_Missense_Mutation_p.W1461C|ATM_uc001pkd.3_Missense_Mutation_p.W113C|ATM_uc001pke.1_Missense_Mutation_p.W113C|ATM_uc010rvw.1_Missense_Mutation_p.W113C|ATM_uc001pkf.2_Missense_Mutation_p.W113C	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1461					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAGGAGCTTGGGCCTTTGTTC	0.299			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			T	108160475	G	T	108160475	3	4	65	1	0	0	0	0	1	0	0	0	1109	1241	43	5	4493	5	ATM	11	108160475	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	45658	108160475	26846041	601	47427											
ZC3H12C	85463	broad.mit.edu	37	chr11	110035729	110035729	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggagcagtgactcctAcgtgggttacaatgaccggt	14	9	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:110035729A>G	uc009yxw.2	+	6	1970	c.1919A>G	c.(1918-1920)TAC>TGC	p.Y640C	ZC3H12C_uc010rwc.1_Missense_Mutation_p.Y641C|ZC3H12C_uc010rwd.1_Missense_Mutation_p.Y641C|ZC3H12C_uc001pkr.3_Missense_Mutation_p.Y609C	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	640							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		AGTGACTCCTACGTGGGTTAC	0.512													G	110035729	A	G	110035729	3	3	65	1	0	0	0	0	1	0	0	0	17560	391	14	3	1941	3	ZC3H12C	11	110035729	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	1875254	110035729	24970787	602	47428											
ARHGAP20	57569	broad.mit.edu	37	chr11	110451319	110451319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacgtgatttccttcactaCcagacaagcttttcttctta	4	12	4	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:110451319C>T	uc001pkz.1	-	16	2636	c.2351G>A	c.(2350-2352)GGT>GAT	p.G784D	ARHGAP20_uc001pky.1_Missense_Mutation_p.G761D|ARHGAP20_uc009yyb.1_Missense_Mutation_p.G748D|ARHGAP20_uc001pla.1_Missense_Mutation_p.G748D|ARHGAP20_uc001plb.2_Missense_Mutation_p.G327D	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	784					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCCTTCACTACCAGACAAGCT	0.413													T	110451319	C	T	110451319	3	4	65	1	0	0	0	0	1	0	0	0	870	507	18	4	1228	4	ARHGAP20	11	110451319	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	415590	110451319	24555197	603	47429											
USP28	57646	broad.mit.edu	37	chr11	113699980	113699980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacatcaccctccaccatgGccccttccaaacactcgtct	3	20	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:113699980G>A	uc001poh.2	-	10	1031	c.998C>T	c.(997-999)GCC>GTC	p.A333V	USP28_uc001pog.2_Missense_Mutation_p.A41V|USP28_uc010rwy.1_Missense_Mutation_p.A208V|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.A333V	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	333					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTCCACCATGGCCCCTTCCAA	0.478													A	113699980	G	A	113699980	3	1	65	1	0	0	0	0	1	0	0	0	17055	1203	42	2	2299	2	USP28	11	113699980	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	3248661	113699980	21306536	604	47430											
IL10RA	3587	broad.mit.edu	37	chr11	117869725	117869725	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcagcagcaatagcacagAcagcgggatctgcctgcagg	14	11	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:117869725A>C	uc001prv.2	+	7	1183	c.1106A>C	c.(1105-1107)GAC>GCC	p.D369A	IL10RA_uc010rxl.1_Missense_Mutation_p.D349A|IL10RA_uc010rxm.1_Missense_Mutation_p.D349A|IL10RA_uc010rxn.1_Missense_Mutation_p.D220A|IL10RA_uc001prw.2_Missense_Mutation_p.D220A	NM_001558	NP_001549	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha precursor	369	Cytoplasmic (Potential).					integral to membrane|plasma membrane	interleukin-10 receptor activity			ovary(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		AATAGCACAGACAGCGGGATC	0.662													C	117869725	A	C	117869725	3	2	65	1	0	0	0	0	1	0	0	0	7620	275	10	5	1132	5	IL10RA	11	117869725	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	4169745	117869725	17136791	605	47431											
MPZL3	196264	broad.mit.edu	37	chr11	118122995	118122995	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccacggcttccagctgcTcctctctgctgcatcccggc	9	19	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:118122995T>G	uc001psm.2	-	1	17	c.15A>C	c.(13-15)GGA>GGC	p.G5G	MPZL3_uc010rxy.1_Silent_p.G5G|MPZL3_uc010rxz.1_RNA|MPZL3_uc009yzy.2_RNA	NM_198275	NP_938016	Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3 precursor	5					cell adhesion	integral to membrane					0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTCCAGCTGCTCCTCTCTGCT	0.622													G	118122995	T	G	118122995	2	3	65	1	0	0	0	0	0	0	0	1	9751	1538	54	5		5	MPZL3	11	118122995	Silent	SNP	T	TCGA-BR-8081-01A-11D-2340-08	253270	118122995	16883521	606	47432											
MLL	4297	broad.mit.edu	37	chr11	118343010	118343010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagcaactcttacagagggCaaaaaagggggctcaaaaga	11	7	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:118343010C>T	uc001pta.2	+	3	1159	c.1136C>T	c.(1135-1137)GCA>GTA	p.A379V	MLL_uc001ptb.2_Missense_Mutation_p.A379V|MLL_uc001psz.1_Missense_Mutation_p.A412V|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	379					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TTACAGAGGGCAAAAAAGGGG	0.423			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								T	118343010	C	T	118343010	3	4	65	1	0	0	0	0	1	0	0	0	9620	710	25	2	1146	2	MLL	11	118343010	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	220015	118343010	16663506	607	47433											
MLL	4297	broad.mit.edu	37	chr11	118344186	118344187	+	Frame_Shift_Ins	INS	-	-	C													tctgagctctcacctctcacINSccccccgtcttctgtctctt							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:118344185_118344186A>AC	uc001pta.3	+	2	2334_2335	c.2311_2312A>AC	c.(2311-2313)accfs	p.T771fs	MLL_uc001ptb.3_Frame_Shift_Ins_p.T771fs|MLL_uc001psz.1_Frame_Shift_Ins_p.T804fs|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	771					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CTCACCTCTCACCCCCCCGTCT	0.45			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								C	118344187	-	C	118344186	7	5	65	1	0	1	1	0	0	0	0	0	9620	507	18	0	2322	0	MLL	11	118344186	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	1176	118344186	16662330	608	47434											
TMEM25	84866	broad.mit.edu	37	chr11	118405013	118405015	+	In_Frame_Del	DEL	AAC	AAC	-													cagaccggcagatggctcagAacaacagccggccagagctt							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:118405012_118405014GAAC>G	uc001ptk.4	+	7	1140_1142	c.966_968GAAC>G	c.(964-969)cagaac>caGc	p.N324del	TMEM25_uc010ryf.2_In_Frame_Del_p.N228del|TMEM25_uc010rye.2_In_Frame_Del_p.N325del|TMEM25_uc009zad.3_In_Frame_Del_p.N281del|TMEM25_uc001pth.3_In_Frame_Del_p.N281del|TMEM25_uc001pti.3_In_Frame_Del_p.N177del|TMEM25_uc001ptl.2_In_Frame_Del_p.N325del|TMEM25_uc001ptm.2_In_Frame_Del_p.N280del	NM_001144037	NP_001137509	Q86YD3	TMM25_HUMAN	Homo sapiens transmembrane protein 25 (TMEM25), transcript variant 4, mRNA.	325						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AGATGGCTCAGAACAACAGCCGG	0.655													-	118405015	AAC	-	118405013	7	5	65	1	0	1	0	1	0	0	0	0	16147	246	9	0	996	0	TMEM25	11	118405013	In_Frame_Del	DEL	AAC	TCGA-BR-8081-01A-11D-2340-08	60827	118405013	16601503	609	47435											
UPK2	7379	broad.mit.edu	37	chr11	118827661	118827661	+	Frame_Shift_Del	DEL	C	C	-													agagcctgctggttgccttgCccccctgtcacctcacagga							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:118827660_118827660GC>G	uc001puh.3	+	1	197	c.144_144GC>G	c.(142-144)ttgfs	p.L48fs		NM_006760	NP_006751	O00526	UPK2_HUMAN	Homo sapiens uroplakin 2 (UPK2), mRNA.	48					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TGGTTGCCTTGCCCCCCTGTC	0.602											OREG0021391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	118827661	C	-	118827661	7	5	65	1	0	1	0	1	0	0	0	0	17006	739	26	0	151	0	UPK2	11	118827661	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	422648	118827661	16178855	610	47436											
MCAM	4162	broad.mit.edu	37	chr11	119185618	119185619	+	Frame_Shift_Ins	INS	-	-	G													aagaagatgcgctcgtcttgINSgggggtgacttgagtcaggg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:119185617_119185618T>TG	uc001pwf.3	-	2	354_355	c.325_326A>CA	c.(325-327)caafs	p.Q109fs		NM_006500	NP_006491	P43121	MUC18_HUMAN	Homo sapiens melanoma cell adhesion molecule (MCAM), mRNA.	109	Ig-like V-type 1.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GCGCTCGTCTTGGGGGGTGACT	0.658													G	119185619	-	G	119185618	7	5	65	1	0	1	1	0	0	0	0	0	9368	1357	47	0	1671	0	MCAM	11	119185618	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	357957	119185618	15820898	611	47437											
MFRP	83552	broad.mit.edu	37	chr11	119212679	119212679	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcacatctccacctggacaGgctcacaggccagctctgca	10	16	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:119212679G>T	uc001pwj.2	-	12	1563	c.1403C>A	c.(1402-1404)CCT>CAT	p.P468H	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Intron	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CACCTGGACAGGCTCACAGGC	0.622													T	119212679	G	T	119212679	3	4	65	1	0	0	0	0	1	0	0	0	9526	1000	35	5	344	5	MFRP	11	119212679	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	27061	119212679	15793837	612	47438											
GRIK4	2900	broad.mit.edu	37	chr11	120827494	120827494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttttctcccacaggttgaCgccctacgagtggtacagcc	9	15	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:120827494C>T	uc001pxn.2	+	16	1993	c.1706C>T	c.(1705-1707)ACG>ATG	p.T569M	GRIK4_uc009zav.1_Missense_Mutation_p.T569M|GRIK4_uc009zaw.1_Missense_Mutation_p.T569M|GRIK4_uc009zax.1_Missense_Mutation_p.T569M	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	569	Cytoplasmic (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CACAGGTTGACGCCCTACGAG	0.418													T	120827494	C	T	120827494	3	4	65	1	0	0	0	0	1	0	0	0	6776	536	19	1	1760	1	GRIK4	11	120827494	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1614815	120827494	14179022	613	47439											
TECTA	7007	broad.mit.edu	37	chr11	121016339	121016339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttttcctttggcttccacGtggtggtggaaactgatttt	10	8	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:121016339G>A	uc010rzo.1	+	11	3619	c.3619G>A	c.(3619-3621)GTG>ATG	p.V1207M		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1207	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGGCTTCCACGTGGTGGTGGA	0.502													A	121016339	G	A	121016339	3	1	65	1	0	0	0	0	1	0	0	0	15744	1145	40	1	3661	1	TECTA	11	121016339	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	188845	121016339	13990177	614	47440											
C11orf63	79864	broad.mit.edu	37	chr11	122817342	122817342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaggggccttatccagcGtcacgcttccacctatactg	10	13	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:122817342G>A	uc001pym.2	+	6	2068	c.1771G>A	c.(1771-1773)GTC>ATC	p.V591I		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	591										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CTTATCCAGCGTCACGCTTCC	0.502													A	122817342	G	A	122817342	3	1	65	1	0	0	0	0	1	0	0	0	1654	1145	40	1	1853	1	C11orf63	11	122817342	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1801003	122817342	12189174	615	47441											
SRPR	6734	broad.mit.edu	37	chr11	126135176	126135176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgaccttggcaagattaGtagatttccccactccatta	6	12	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:126135176G>A	uc001qdh.2	-	10	1349	c.1298C>T	c.(1297-1299)ACT>ATT	p.T433I	SRPR_uc010sbm.1_Missense_Mutation_p.T405I	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	433					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		GGCAAGATTAGTAGATTTCCC	0.507													A	126135176	G	A	126135176	3	1	65	1	0	0	0	0	1	0	0	0	15161	1029	36	4	638	4	SRPR	11	126135176	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	3317834	126135176	8871340	616	47442											
KIRREL3	84623	broad.mit.edu	37	chr11	126314880	126314880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgagggtcttaccattgaCggtcagggtcacctctctct	11	12	5	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:126314880C>T	uc001qea.2	-	10	1607	c.1246G>A	c.(1246-1248)GTC>ATC	p.V416I	KIRREL3_uc001qeb.2_Missense_Mutation_p.V416I|KIRREL3_uc001qec.1_Missense_Mutation_p.V416I	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	416	Extracellular (Potential).				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TTACCATTGACGGTCAGGGTC	0.652													T	126314880	C	T	126314880	3	4	65	1	0	0	0	0	1	0	0	0	8326	536	19	1	1229	1	KIRREL3	11	126314880	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	179704	126314880	8691636	617	47443											
ETS1	2113	broad.mit.edu	37	chr11	128391832	128391832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaggggaaaagctccagatCgactttttccgtcttgatga	12	8	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:128391832C>T	uc010sbs.1	-	1	374	c.58G>A	c.(58-60)GAT>AAT	p.D20N	ETS1_uc001qej.2_Intron|ETS1_uc009zch.2_Missense_Mutation_p.D20N|ETS1_uc009zcg.2_Missense_Mutation_p.D20N	NM_005238	NP_005229	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	20					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(4)|central_nervous_system(1)|pleura(1)	6	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		AGCTCCAGATCGACTTTTTCC	0.627													T	128391832	C	T	128391832	3	4	65	1	0	0	0	0	1	0	0	0	5275	884	31	1	1299	1	ETS1	11	128391832	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2076952	128391832	6614684	618	47444											
ARHGAP32	9743	broad.mit.edu	37	chr11	128842462	128842462	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggacgattagttctgtgCgtgcgctgaagtgtggcagc	17	7	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:128842462C>T	uc009zcp.2	-	21	3897	c.3897G>A	c.(3895-3897)ACG>ACA	p.T1299T	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.T258T|ARHGAP32_uc001qez.2_Silent_p.T950T	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1299					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						TAGTTCTGTGCGTGCGCTGAA	0.552													T	128842462	C	T	128842462	2	4	65	1	0	0	0	0	0	0	0	1	881	755	27	1		1	ARHGAP32	11	128842462	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	450630	128842462	6164054	619	47445											
PRDM10	56980	broad.mit.edu	37	chr11	129780429	129780430	+	In_Frame_Ins	INS	-	-	CTG													tgtgctgcacagaggaattcINStgctgctgctgctgctgctg					rs113169112		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:129780428_129780429T>TCTG	uc001qfm.3	-	19	3349_3350	c.3117_3118A>CAGA	c.(3115-3120)cagaat>caCAGAat	p.1039_1040QN>HR	PRDM10_uc001qfj.3_In_Frame_Ins_p.940_941QN>HR|PRDM10_uc001qfk.3_In_Frame_Ins_p.902_903QN>HR|PRDM10_uc001qfl.3_In_Frame_Ins_p.953_954QN>HR|PRDM10_uc010sbx.2_In_Frame_Ins_p.949_950QN>HR|PRDM10_uc001qfn.3_In_Frame_Ins_p.1035_1036QN>HR	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	1026					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ACAGAGGAATTctgctgctgct	0.614													CTG	129780430	-	CTG	129780429	7	5	65	1	0	1	1	0	0	0	0	0	12451	912	32	0	377	0	PRDM10	11	129780429	In_Frame_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	937967	129780429	5226087	620	47446											
NCAPD3	23310	broad.mit.edu	37	chr11	134048586	134048586	+	Frame_Shift_Del	DEL	G	G	-													catgacagaacctctgacctGggggggtggctgagacgctg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:134048585_134048585TG>T	uc001qhd.1	-	21	3332	c.2726_2726CA>A	c.(2725-2727)cagfs	p.Q909fs	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	909					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.Q909fs*12(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGG	0.522													-	134048586	G	-	134048586	7	5	65	1	0	1	0	1	0	0	0	0	10206	1357	47	0	1827	0	NCAPD3	11	134048586	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	4268157	134048586	957930	621	47447											
KCNA1	3736	broad.mit.edu	37	chr12	5021217	5021217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagaccccttcttcatcgtgGaaacgctgtgtatcatctgg	9	12	4	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:5021217G>A	uc001qnh.2	+	2	1778	c.673G>A	c.(673-675)GAA>AAA	p.E225K		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	225	Helical; Name=Segment S2; (Potential).				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTCATCGTGGAAACGCTGTG	0.512													A	5021217	G	A	5021217	3	1	65	1	0	0	0	0	1	0	0	0	8001	1175	41	4	675	4	KCNA1	12	5021217	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08		5021217	128830678	622	47448											
VWF	7450	broad.mit.edu	37	chr12	6120863	6120863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacgaaggcctcagccccCggtcacagttgacccgatga	12	15	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:6120863C>T	uc001qnn.1	-	34	6012	c.5762G>A	c.(5761-5763)CGG>CAG	p.R1921Q	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1921					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CCTCAGCCCCCGGTCACAGTT	0.617													T	6120863	C	T	6120863	3	4	65	1	0	0	0	0	1	0	0	0	17243	652	23	1	2755	1	VWF	12	6120863	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1099646	6120863	127731032	623	47449											
NCAPD2	9918	broad.mit.edu	37	chr12	6635473	6635473	+	Frame_Shift_Del	DEL	C	C	-													ccttctctgggcaaacgtcaCccccccttccggctgcctca							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:6635472_6635472AC>A	uc001qoo.2	+	19	2547	c.2501_2501AC>A	c.(2500-2502)cacfs	p.H834fs	NCAPD2_uc009zen.1_Frame_Shift_Del_p.H706fs|NCAPD2_uc010sfd.1_Frame_Shift_Del_p.H789fs	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	834					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GGCAAACGTCACCCCCCCTTC	0.572													-	6635473	C	-	6635473	7	5	65	1	0	1	0	1	0	0	0	0	10205	506	18	0	2576	0	NCAPD2	12	6635473	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	514610	6635473	127216422	624	47450											
CHD4	1108	broad.mit.edu	37	chr12	6703729	6703729	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcccaggagaagcgcaAccaattcaggccctccattt	9	14	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:6703729A>G	uc001qpo.2	-	15	2373	c.2209T>C	c.(2209-2211)TTG>CTG	p.L737L	CHD4_uc001qpn.2_Silent_p.L730L|CHD4_uc001qpp.2_Silent_p.L734L	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	737					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GAGAAGCGCAACCAATTCAGG	0.517													G	6703729	A	G	6703729	2	3	65	1	0	0	0	0	0	0	0	1	3327	40	2	3		3	CHD4	12	6703729	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	68256	6703729	127148166	625	47451											
LPAR5	57121	broad.mit.edu	37	chr12	6729440	6729440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattgcgcgagcgccgcccgCgtcccgttggtggccgaggt	17	14	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:6729440C>T	uc009zer.2	-	2	1256	c.975G>A	c.(973-975)ACG>ACA	p.T325T	LPAR5_uc001qps.2_Silent_p.T325T|LPAR5_uc010sff.1_Silent_p.T325T	NM_001142961	NP_001136433	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	325	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2						GCGCCGCCCGCGTCCCGTTGG	0.716													T	6729440	C	T	6729440	2	4	65	1	0	0	0	0	0	0	0	1	8908	755	27	1		1	LPAR5	12	6729440	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	25711	6729440	127122455	626	47452											
ENO2	2026	broad.mit.edu	37	chr12	7030885	7030885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggcagtggaagaaaaggCctgcaactgtctgctgctca	14	10	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:7030885C>T	uc001qru.1	+	9	1229	c.1007C>T	c.(1006-1008)GCC>GTC	p.A336V	ENO2_uc009zfi.1_Missense_Mutation_p.A336V|ENO2_uc010sfq.1_Missense_Mutation_p.A293V|ENO2_uc001qrv.1_Missense_Mutation_p.A336V|ATN1_uc001qrw.1_5'Flank	NM_001975	NP_001966	P09104	ENOG_HUMAN	enolase 2	336					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity				0						GAAGAAAAGGCCTGCAACTGT	0.547													T	7030885	C	T	7030885	3	4	65	1	0	0	0	0	1	0	0	0	5122	739	26	2	1037	2	ENO2	12	7030885	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	301445	7030885	126821010	627	47453											
PHB2	11331	broad.mit.edu	37	chr12	7075615	7075615	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttcatcctgtaggttcaGcacaaggttgtcagctgtga	10	9	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:7075615G>A	uc001qsd.2	-	8	1048	c.838C>T	c.(838-840)CTG>TTG	p.L280L	PHB2_uc010sft.1_Silent_p.L242L|PHB2_uc001qse.1_RNA|PHB2_uc001qsf.1_RNA|PHB2_uc009zfn.1_Intron	NM_001144831	NP_001138303	Q99623	PHB2_HUMAN	prohibitin 2 isoform 1	280					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						TGTAGGTTCAGCACAAGGTTG	0.483													A	7075615	G	A	7075615	2	1	65	1	0	0	0	0	0	0	0	1	11815	962	34	2		2	PHB2	12	7075615	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	44730	7075615	126776280	628	47454											
C1R	715	broad.mit.edu	37	chr12	7242010	7242011	+	Frame_Shift_Del	DEL	GG	GG	-													tgtagttgcagcgcaggtcaGgggggtaggaccgagggtac							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:7242009_7242010AGG>A	uc010sfy.2	-	4	706_707	c.647_648CCT>T	c.(646-648)cctfs	p.P216fs	C1R_uc010sfz.1_Frame_Shift_Del_p.P230fs|C1R_uc021quh.1_Frame_Shift_Del_p.P105fs|C1R_uc010sga.1_Frame_Shift_Del_p.P182fs	NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	216	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	p.P230fs*100(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCGCAGGTCAGGGGGGTAGGA	0.594													-	7242011	GG	-	7242010	7	5	65	1	0	1	0	1	0	0	0	0	1972	1000	35	0	1177	0	C1R	12	7242010	Frame_Shift_Del	DEL	GG	TCGA-BR-8081-01A-11D-2340-08	166395	7242010	126609885	629	47455											
FAM90A1	55138	broad.mit.edu	37	chr12	8374554	8374554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgagcgaggaaggctcccGgcttctcaggagagtgaaat	14	9	2	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:8374554G>A	uc001qui.2	-	7	1818	c.1259C>T	c.(1258-1260)CCG>CTG	p.P420L	FAM90A1_uc001quh.2_Missense_Mutation_p.P420L	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	hypothetical protein LOC55138	420							nucleic acid binding|zinc ion binding			ovary(1)	1				Kidney(36;0.0866)		GAAGGCTCCCGGCTTCTCAGG	0.602													A	8374554	G	A	8374554	3	1	65	1	0	0	0	0	1	0	0	0	5650	1116	39	1	139	1	FAM90A1	12	8374554	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1132544	8374554	125477341	630	47456											
MFAP5	8076	broad.mit.edu	37	chr12	8803134	8803134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgaatgcattgtttaaccGgccgatgcacagagtagagc	12	8	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:8803134G>A	uc001qut.1	-	8	512	c.299C>T	c.(298-300)CCG>CTG	p.P100L	MFAP5_uc001qus.2_Missense_Mutation_p.P90L|MFAP5_uc009zge.1_Missense_Mutation_p.P75L	NM_003480	NP_003471	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5 precursor	100						microfibril	extracellular matrix structural constituent			breast(1)	1	Lung SC(5;0.184)					TTGTTTAACCGGCCGATGCAC	0.433													A	8803134	G	A	8803134	3	1	65	1	0	0	0	0	1	0	0	0	9518	1116	39	1	234	1	MFAP5	12	8803134	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	428580	8803134	125048761	631	47457											
A2ML1	144568	broad.mit.edu	37	chr12	8988128	8988128	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatagcaacaggattgcacAgtggctggaagtggtacctg	13	7	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:8988128A>C	uc001quz.3	+	6	607	c.509A>C	c.(508-510)CAG>CCG	p.Q170P		NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	14						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						AGGATTGCACAGTGGCTGGAA	0.522													C	8988128	A	C	8988128	3	2	65	1	0	0	0	0	1	0	0	0	5	188	7	5	531	5	A2ML1	12	8988128	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	184994	8988128	124863767	632	47458											
STYK1	55359	broad.mit.edu	37	chr12	10782235	10782235	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtattgatggaattggattcGccctaagaaatcttgtacct	9	7	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:10782235G>A	uc001qys.2	-	6	1011	c.490C>T	c.(490-492)CGA>TGA	p.R164*		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	164	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						AATTGGATTCGCCCTAAGAAA	0.512										HNSCC(73;0.22)			A	10782235	G	A	10782235	4	1	65	1	0	0	0	0	0	1	0	0	15358	1095	38	1	802	1	STYK1	12	10782235	Nonsense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1794107	10782235	123069660	633	47459											
TAS2R42	353164	broad.mit.edu	37	chr12	11338799	11338800	+	Frame_Shift_Ins	INS	-	-	A													ccattggccacttgtaaggaINSaaaaaaatgaactatgaaga							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:11338798_11338799G>GA	uc001qzr.1	-	0	745_746	c.745_746C>TC	c.(745-747)tccfs	p.S249fs	PRB4_uc001qzf.1_Intron	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	Homo sapiens taste receptor, type 2, member 42 (TAS2R42), mRNA.	249					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			CACTTGTAAGGAAAAAAAATGA	0.421													A	11338800	-	A	11338799	7	5	65	1	0	1	1	0	0	0	0	0	15577	246	9	0	203	0	TAS2R42	12	11338799	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	556564	11338799	122513096	634	47460											
GRIN2B	2904	broad.mit.edu	37	chr12	13716277	13716277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtaggagtgctgccggcGcagtttgttccggttcttct	14	10	2	0	rs45540034		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:13716277G>A	uc001rbt.2	-	13	4074	c.3895C>T	c.(3895-3897)CGC>TGC	p.R1299C		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1299	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGCTGCCGGCGCAGTTTGTTC	0.612													A	13716277	G	A	13716277	3	1	65	1	0	0	0	0	1	0	0	0	6780	1087	38	1	563	1	GRIN2B	12	13716277	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2377478	13716277	120135618	635	47461											
C12orf69	440087	broad.mit.edu	37	chr12	14959221	14959221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcccacaagtttaacagCgactgcactggctgcagatg	11	11	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:14959221C>T	uc001rck.1	-	2	467	c.394G>A	c.(394-396)GCT>ACT	p.A132T	WBP11_uc001rci.2_5'Flank|C12orf60_uc001rcj.3_Intron	NM_001013698	NP_001013720	A2RU48	CL069_HUMAN	hypothetical protein LOC440087	132						integral to membrane					0						AGTTTAACAGCGACTGCACTG	0.418													T	14959221	C	T	14959221	3	4	65	1	0	0	0	0	1	0	0	0	1711	768	27	1	287	1	C12orf69	12	14959221	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1242944	14959221	118892674	636	47462											
TMTC1	83857	broad.mit.edu	37	chr12	29757135	29757135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgtaaaggactctctccGccaccacaaaacccaccctg	6	17	1	0	rs144467040		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:29757135G>A	uc001rjb.2	-	7	1376	c.902C>T	c.(901-903)GCG>GTG	p.A301V	TMTC1_uc001riz.2_Missense_Mutation_p.A58V|TMTC1_uc001rja.2_Missense_Mutation_p.A145V|TMTC1_uc001rjc.1_Missense_Mutation_p.A363V	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	409	Helical; (Potential).					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GACTCTCTCCGCCACCACAAA	0.507													A	29757135	G	A	29757135	3	1	65	1	0	0	0	0	1	0	0	0	16257	1087	38	1	1470	1	TMTC1	12	29757135	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	14797914	29757135	104094760	637	47463											
DDX11	1663	broad.mit.edu	37	chr12	31245812	31245812	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattcccagctgctgcagtaCgtggagcgatacgggtgaga	14	10	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:31245812C>T	uc001rjt.1	+	11	1526	c.1275C>T	c.(1273-1275)TAC>TAT	p.Y425Y	DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Silent_p.Y425Y|DDX11_uc001rjs.1_Silent_p.Y425Y|DDX11_uc001rju.1_Silent_p.Y103Y|DDX11_uc001rjv.1_Silent_p.Y425Y|DDX11_uc001rjw.1_Silent_p.Y399Y|DDX11_uc001rjx.1_Silent_p.Y103Y|DDX11_uc009zjn.1_RNA	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	425	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGCTGCAGTACGTGGAGCGAT	0.587										Multiple Myeloma(12;0.14)			T	31245812	C	T	31245812	2	4	65	1	0	0	0	0	0	0	0	1	4343	547	19	1		1	DDX11	12	31245812	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1488677	31245812	102606083	638	47464											
BICD1	636	broad.mit.edu	37	chr12	32446952	32446952	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgagatggtggagctacagAgaatacggatgaaggatgaa	15	3	0	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:32446952A>G	uc001rku.2	+	3	532	c.451A>G	c.(451-453)AGA>GGA	p.R151G	BICD1_uc001rkv.2_Missense_Mutation_p.R151G|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	151	Potential.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGAGCTACAGAGAATACGGAT	0.383													G	32446952	A	G	32446952	3	3	65	1	0	0	0	0	1	0	0	0	1428	296	11	3	461	3	BICD1	12	32446952	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	1201140	32446952	101404943	639	47465											
BICD1	636	broad.mit.edu	37	chr12	32490545	32490545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctatccagcaaaaactcGccctgacccagaggctggag	11	13	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:32490545G>A	uc001rku.2	+	7	2446	c.2365G>A	c.(2365-2367)GCC>ACC	p.A789T	BICD1_uc001rkv.2_Missense_Mutation_p.A789T|BICD1_uc010skd.1_RNA|BICD1_uc001rkw.1_Missense_Mutation_p.A71T	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	789	Potential.|Interacts with RAB6A.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GCAAAAACTCGCCCTGACCCA	0.502													A	32490545	G	A	32490545	3	1	65	1	0	0	0	0	1	0	0	0	1428	1087	38	1	2391	1	BICD1	12	32490545	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	43593	32490545	101361350	640	47466											
FGD4	121512	broad.mit.edu	37	chr12	32777996	32777996	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gataatgacattcactcagaGgtttctgtgagttgaattaa	9	5	3	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:32777996G>T	uc001rkz.2	+	13	2106	c.1629G>T	c.(1627-1629)GAG>GAT	p.E543D	FGD4_uc001rlc.2_Missense_Mutation_p.E628D|FGD4_uc001rky.2_Missense_Mutation_p.E295D|FGD4_uc001rla.2_Missense_Mutation_p.E199D|FGD4_uc010ske.1_Missense_Mutation_p.E655D|FGD4_uc001rlb.1_RNA	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	543					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TTCACTCAGAGGTTTCTGTGA	0.358													T	32777996	G	T	32777996	3	4	65	1	0	0	0	0	1	0	0	0	5835	991	35	5	1671	5	FGD4	12	32777996	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	287451	32777996	101073899	641	47467											
KIF21A	55605	broad.mit.edu	37	chr12	39756911	39756911	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tatgcatacctattacccccGagggaatcctgtagtagtct	8	11	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:39756911G>T	uc001rly.2	-	7	1154	c.1008C>A	c.(1006-1008)CTC>CTA	p.L336L	KIF21A_uc001rlx.2_Silent_p.L336L|KIF21A_uc001rlz.2_Silent_p.L336L|KIF21A_uc010skl.1_Silent_p.L336L|KIF21A_uc001rma.1_Silent_p.L344L	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	336					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				TATTACCCCCGAGGGAATCCT	0.378													T	39756911	G	T	39756911	2	4	65	1	0	0	0	0	0	0	0	1	8288	1045	37	5		5	KIF21A	12	39756911	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	6978915	39756911	94094984	642	47468											
PDZRN4	29951	broad.mit.edu	37	chr12	41966842	41966842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactccgctcactgtagaccGttcccctgacagttcccttc	6	17	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:41966842G>A	uc010skn.1	+	10	1732	c.1664G>A	c.(1663-1665)CGT>CAT	p.R555H	PDZRN4_uc001rmq.3_Missense_Mutation_p.R496H|PDZRN4_uc009zjz.2_Missense_Mutation_p.R494H|PDZRN4_uc001rmr.2_Missense_Mutation_p.R381H	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	754							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ACTGTAGACCGTTCCCCTGAC	0.502													A	41966842	G	A	41966842	3	1	65	1	0	0	0	0	1	0	0	0	11710	1145	40	1	2372	1	PDZRN4	12	41966842	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2209931	41966842	91885053	643	47469											
PRICKLE1	144165	broad.mit.edu	37	chr12	42854270	42854270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcactggcagatgtactgGcttctcttcaggcaggattt	12	9	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:42854270G>A	uc010skv.1	-	8	2124	c.1837C>T	c.(1837-1839)CCA>TCA	p.P613S	PRICKLE1_uc001rnl.2_Missense_Mutation_p.P613S|PRICKLE1_uc010skw.1_Missense_Mutation_p.P613S|PRICKLE1_uc001rnm.2_Missense_Mutation_p.P613S|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	613					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AGATGTACTGGCTTCTCTTCA	0.458													A	42854270	G	A	42854270	3	1	65	1	0	0	0	0	1	0	0	0	12486	1203	42	2	662	2	PRICKLE1	12	42854270	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	887428	42854270	90997625	644	47470											
ANO6	196527	broad.mit.edu	37	chr12	45771877	45771877	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttggaaccctggtctttgcAgtatttatgggagtatgggg	14	5	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:45771877A>G	uc001roo.2	+	10	1481	c.1146A>G	c.(1144-1146)GCA>GCG	p.A382A	ANO6_uc010sld.1_Silent_p.A382A|ANO6_uc010sle.1_Silent_p.A382A|ANO6_uc010slf.1_Silent_p.A403A|ANO6_uc010slg.1_Silent_p.A364A	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	382	Helical; (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						TGGTCTTTGCAGTATTTATGG	0.323													G	45771877	A	G	45771877	2	3	65	1	0	0	0	0	0	0	0	1	701	175	7	3		3	ANO6	12	45771877	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	2917607	45771877	88080018	645	47471											
ANO6	196527	broad.mit.edu	37	chr12	45822989	45822989	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaatacctaacccaaaaGcttcttcatgagaatcacct	4	11	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:45822989G>T	uc001roo.2	+	20	2963	c.2628G>T	c.(2626-2628)AAG>AAT	p.K876N	ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slf.1_Missense_Mutation_p.K897N|ANO6_uc010slg.1_Missense_Mutation_p.K858N	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	876	Cytoplasmic (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						TAACCCAAAAGCTTCTTCATG	0.383													T	45822989	G	T	45822989	3	4	65	1	0	0	0	0	1	0	0	0	701	962	34	5	2726	5	ANO6	12	45822989	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	51112	45822989	88028906	646	47472											
ASB8	140461	broad.mit.edu	37	chr12	48547247	48547247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagagtatttgctctgaatGctctgcataatataccacat	7	8	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:48547247G>A	uc001rrh.2	-	2	202	c.33C>T	c.(31-33)AGC>AGT	p.S11S	ASB8_uc010slr.1_Silent_p.S7S	NM_024095	NP_077000	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box-containing 8	11					intracellular signal transduction	cytoplasm|nucleus				kidney(1)	1						TGCTCTGAATGCTCTGCATAA	0.443													A	48547247	G	A	48547247	2	1	65	1	0	0	0	0	0	0	0	1	1029	1310	46	2		2	ASB8	12	48547247	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2724258	48547247	85304648	647	47473											
CCNT1	904	broad.mit.edu	37	chr12	49086828	49086828	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctttttttacttaggaagGggtggaagtggtggaggagg	17	2	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:49086828G>A	uc001rse.1	-	9	2492	c.2169C>T	c.(2167-2169)CCC>CCT	p.P723P	LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Silent_p.P438P	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	723	Pro-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			ovary(3)|lung(1)|breast(1)|skin(1)	6						ACTTAGGAAGGGGTGGAAGTG	0.388													A	49086828	G	A	49086828	2	1	65	1	0	0	0	0	0	0	0	1	2934	1219	43	4		4	CCNT1	12	49086828	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	539581	49086828	84765067	648	47474											
ADCY6	112	broad.mit.edu	37	chr12	49176653	49176653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgagccccacgaacagggCggcggcacaggccaacagtg	14	14	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:49176653C>T	uc001rsh.3	-	1	1225	c.565G>A	c.(565-567)GCC>ACC	p.A189T	ADCY6_uc001rsj.3_Missense_Mutation_p.A189T|ADCY6_uc001rsi.3_Missense_Mutation_p.A189T	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	189	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0						ACGAACAGGGCGGCGGCACAG	0.667													T	49176653	C	T	49176653	3	4	65	1	0	0	0	0	1	0	0	0	298	768	27	1	3025	1	ADCY6	12	49176653	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	89825	49176653	84675242	649	47475											
MLL2	8085	broad.mit.edu	37	chr12	49444688	49444688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtggcatcagctgaggCgacaaggatggctccccaga	14	12	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:49444688C>T	uc001rta.3	-	10	2778	c.2778G>A	c.(2776-2778)TCG>TCA	p.S926S		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	926	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TCAGCTGAGGCGACAAGGATG	0.547			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			T	49444688	C	T	49444688	2	4	65	1	0	0	0	0	0	0	0	1	9621	755	27	1		1	MLL2	12	49444688	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	268035	49444688	84407207	650	47476											
AQP5	362	broad.mit.edu	37	chr12	50357276	50357276	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acccgctatccccttgcagcTcaacaacaacacaacgcagg	6	17	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:50357276T>G	uc001rvo.2	+	2	887	c.365T>G	c.(364-366)CTC>CGC	p.L122R		NM_001651	NP_001642	P55064	AQP5_HUMAN	aquaporin 5	122	Extracellular (Potential).				carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity				0						CCCTTGCAGCTCAACAACAAC	0.617													G	50357276	T	G	50357276	3	3	65	1	0	0	0	0	1	0	0	0	829	1565	54	5	371	5	AQP5	12	50357276	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	912588	50357276	83494619	651	47477											
ESPL1	9700	broad.mit.edu	37	chr12	53668729	53668729	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgaacacatggctgagccAgtcactttctgggttcgggt	12	11	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:53668729A>G	uc001sck.2	+	7	1726	c.1635A>G	c.(1633-1635)CCA>CCG	p.P545P	ESPL1_uc001scj.2_Silent_p.P220P	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	545					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						TGGCTGAGCCAGTCACTTTCT	0.478													G	53668729	A	G	53668729	2	3	65	1	0	0	0	0	0	0	0	1	5253	175	7	3		3	ESPL1	12	53668729	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	3311453	53668729	80183166	652	47478											
LRP1	4035	broad.mit.edu	37	chr12	57592321	57592321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgggtccagccgcagcGtcatcgtggacaccaagatc	13	12	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:57592321G>A	uc001snd.2	+	60	10010	c.9544G>A	c.(9544-9546)GTC>ATC	p.V3182I		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3182	LDL-receptor class B 28.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGCCGCAGCGTCATCGTGGA	0.597													A	57592321	G	A	57592321	3	1	65	1	0	0	0	0	1	0	0	0	8951	1145	40	1	9782	1	LRP1	12	57592321	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	3923592	57592321	76259574	653	47479											
SHMT2	6472	broad.mit.edu	37	chr12	57626343	57626343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgctcgcctcattgactaCgcccgcatgagagaggttgg	12	11	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:57626343C>T	uc001snf.1	+	6	712	c.702C>T	c.(700-702)TAC>TAT	p.Y234Y	SHMT2_uc001sng.1_Silent_p.Y130Y|SHMT2_uc001snh.1_Silent_p.Y73Y|SHMT2_uc009zpk.1_Silent_p.Y224Y|SHMT2_uc001sni.1_Silent_p.Y213Y|SHMT2_uc010srg.1_Silent_p.Y243Y|SHMT2_uc001snj.1_Silent_p.Y138Y|SHMT2_uc010srh.1_Silent_p.Y213Y|SHMT2_uc001snk.1_Silent_p.Y138Y|SHMT2_uc010sri.1_Silent_p.Y213Y|SHMT2_uc001snl.2_Silent_p.Y138Y|SHMT2_uc010srj.1_5'Flank	NM_005412	NP_005403	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2	234						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			ovary(1)|central_nervous_system(1)	2					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TCATTGACTACGCCCGCATGA	0.642													T	57626343	C	T	57626343	2	4	65	1	0	0	0	0	0	0	0	1	14286	547	19	1		1	SHMT2	12	57626343	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	34022	57626343	76225552	654	47480											
ARHGAP9	64333	broad.mit.edu	37	chr12	57870384	57870384	+	Frame_Shift_Del	DEL	C	C	-													ggttctcacctgagcttgcgCcccccttgggcaatcttggt							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:57870383_57870383GC>G	uc001sod.3	-	9	1421	c.1228_1228GC>C	c.(1228-1230)cgcfs	p.R410fs	ARHGAP9_uc001sny.3_5'Flank|ARHGAP9_uc001snz.3_Frame_Shift_Del_p.R155fs|ARHGAP9_uc001soa.3_Frame_Shift_Del_p.R9fs|ARHGAP9_uc001sob.3_Frame_Shift_Del_p.R339fs|ARHGAP9_uc001soc.3_Frame_Shift_Del_p.R339fs|ARHGAP9_uc001soe.1_Frame_Shift_Del_p.R418fs	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	339	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CTGAGCTTGCGCCCCCCTTGG	0.562													-	57870384	C	-	57870384	7	5	65	1	0	1	0	1	0	0	0	0	889	726	26	0	1229	0	ARHGAP9	12	57870384	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	244041	57870384	75981511	655	47481											
USP15	9958	broad.mit.edu	37	chr12	62687994	62687995	+	Frame_Shift_Ins	INS	-	-	A													tcgctggttcaaacagtggaINSaaaaatatgttggctttgac							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:62687993_62687994G>GA	uc001src.2	+	1	198_199	c.123_124G>GA	c.(121-126)tggaaafs	p.W41fs	USP15_uc001srb.2_Frame_Shift_Ins_p.W41fs|USP15_uc010ssj.2_Frame_Shift_Ins_p.W41fs|USP15_uc010ssk.2_Frame_Shift_Ins_p.W41fs|USP15_uc001sra.3_Frame_Shift_Ins_p.W41fs	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	41	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TCAAACAGTGGAAAAAATATGT	0.376													A	62687995	-	A	62687994	7	5	65	1	0	1	1	0	0	0	0	0	17043	247	9	0	130	0	USP15	12	62687994	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	4817610	62687994	71163901	656	47482											
FRS2	10818	broad.mit.edu	37	chr12	69968091	69968091	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctatgacagtgatgaaCgaagagatgcaccctctgtt	11	9	1	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:69968091C>T	uc001suy.2	+	10	1393	c.883C>T	c.(883-885)CGA>TGA	p.R295*	FRS2_uc001suz.2_Nonsense_Mutation_p.R295*|FRS2_uc009zrj.2_Nonsense_Mutation_p.R295*|FRS2_uc009zrk.2_Nonsense_Mutation_p.R295*	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	295					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			prostate(1)|kidney(1)	2	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CAGTGATGAACGAAGAGATGC	0.443													T	69968091	C	T	69968091	4	4	65	1	0	0	0	0	0	1	0	0	6061	528	19	1	901	1	FRS2	12	69968091	Nonsense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	7280097	69968091	63883804	657	47483											
TMTC2	160335	broad.mit.edu	37	chr12	83250837	83250837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccagaaactccatggacGcacattttctacaatgattt	5	12	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:83250837G>A	uc001szt.2	+	2	564	c.132G>A	c.(130-132)ACG>ACA	p.T44T	TMTC2_uc001szr.1_Silent_p.T44T|TMTC2_uc001szs.1_Silent_p.T44T|TMTC2_uc010suk.1_Intron	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	44						endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						CTCCATGGACGCACATTTTCT	0.423													A	83250837	G	A	83250837	2	1	65	1	0	0	0	0	0	0	0	1	16258	1074	38	1		1	TMTC2	12	83250837	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	13282746	83250837	50601058	658	47484											
SLC6A15	55117	broad.mit.edu	37	chr12	85264301	85264301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaagtgtccacaataggcGtgacaatcccttcaatggtt	9	9	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:85264301G>A	uc001szv.2	-	9	1944	c.1451C>T	c.(1450-1452)ACG>ATG	p.T484M	SLC6A15_uc010sul.1_Missense_Mutation_p.T377M|SLC6A15_uc001szw.1_Missense_Mutation_p.T192M	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	484					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3						CACAATAGGCGTGACAATCCC	0.403													A	85264301	G	A	85264301	3	1	65	1	0	0	0	0	1	0	0	0	14678	1145	40	1	757	1	SLC6A15	12	85264301	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2013464	85264301	48587594	659	47485											
CEP290	80184	broad.mit.edu	37	chr12	88478558	88478558	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaatcgaagcctcagttcAttgattactttgtctcttga	8	9	3	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:88478558A>G	uc001tar.2	-	35	4853	c.4509T>C	c.(4507-4509)AAT>AAC	p.N1503N	CEP290_uc001taq.2_Silent_p.N563N	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1503					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						GCCTCAGTTCATTGATTACTT	0.353													G	88478558	A	G	88478558	2	3	65	1	0	0	0	0	0	0	0	1	3253	214	8	3		3	CEP290	12	88478558	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	3214257	88478558	45373337	660	47486											
ATP2B1	490	broad.mit.edu	37	chr12	90028814	90028814	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccaacagtaatgtcagcTacaggtatctgaatgacctg	8	10	3	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:90028814T>C	uc001tbh.2	-	3	802	c.621A>G	c.(619-621)GTA>GTG	p.V207V	ATP2B1_uc001tbg.2_Silent_p.V207V	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	207	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						TAATGTCAGCTACAGGTATCT	0.378													C	90028814	T	C	90028814	2	2	65	1	0	0	0	0	0	0	0	1	1139	1509	53	3		3	ATP2B1	12	90028814	Silent	SNP	T	TCGA-BR-8081-01A-11D-2340-08	1550256	90028814	43823081	661	47487											
PLXNC1	10154	broad.mit.edu	37	chr12	94648663	94648663	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccggaaagagatacgtgaCggtaggctccaaaattgtgt	12	8	0	2	rs115290199	by1000genomes	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:94648663C>T	uc001tdc.2	+	16	3231	c.2982C>T	c.(2980-2982)GAC>GAT	p.D994D	PLXNC1_uc010sut.1_Silent_p.D41D	NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	994	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						AGATACGTGACGGTAGGCTCC	0.433													T	94648663	C	T	94648663	2	4	65	1	0	0	0	0	0	0	0	1	12126	550	19	1		1	PLXNC1	12	94648663	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	4619849	94648663	39203232	662	47488											
APAF1	317	broad.mit.edu	37	chr12	99102474	99102474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagttgaccatataagaCgtctgcaagtgagtattttt	9	6	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:99102474C>T	uc001tfz.2	+	20	3410	c.2833C>T	c.(2833-2835)CGT>TGT	p.R945C	APAF1_uc001tfy.2_Missense_Mutation_p.R934C|APAF1_uc001tga.2_Missense_Mutation_p.R891C|APAF1_uc001tgb.2_Missense_Mutation_p.R902C|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Missense_Mutation_p.R311C	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	945					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	CCATATAAGACGTCTGCAAGT	0.318													T	99102474	C	T	99102474	3	4	65	1	0	0	0	0	1	0	0	0	755	536	19	1	2907	1	APAF1	12	99102474	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	4453811	99102474	34749421	663	47489											
APPL2	55198	broad.mit.edu	37	chr12	105600965	105600966	+	Frame_Shift_Del	DEL	TT	TT	-													cgccgggccgcggccacctcTtttccgacttcggtcttcac							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:105600964_105600965CTT>C	uc010swu.1	-	7	731_732	c.513_514AAG>G	c.(511-516)aaagagfs	p.K171fs	APPL2_uc010swt.2_Frame_Shift_Del_p.K122fs|APPL2_uc001tlf.1_Frame_Shift_Del_p.K165fs|APPL2_uc001tlg.1_5'UTR|APPL2_uc009zuq.3_Frame_Shift_Del_p.K122fs	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.	165	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GCGGCCACCTCTTTTCCGACTT	0.51													-	105600966	TT	-	105600965	7	5	65	1	0	1	0	1	0	0	0	0	818	1606	56	0	1555	0	APPL2	12	105600965	Frame_Shift_Del	DEL	TT	TCGA-BR-8081-01A-11D-2340-08	6498491	105600965	28250930	664	47490											
NUAK1	9891	broad.mit.edu	37	chr12	106461214	106461214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttggggctgagttttcccGgcacctctgcctctggtgag	14	12	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:106461214G>A	uc001tlj.1	-	7	2732	c.1352C>T	c.(1351-1353)CCG>CTG	p.P451L		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	451							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						GAGTTTTCCCGGCACCTCTGC	0.557													A	106461214	G	A	106461214	3	1	65	1	0	0	0	0	1	0	0	0	10712	1116	39	1	637	1	NUAK1	12	106461214	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	860249	106461214	27390681	665	47491											
POLR3B	55703	broad.mit.edu	37	chr12	106786837	106786837	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgagagtgaccaggaaaTtgtgcagatgattggaacag	14	4	0	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:106786837T>C	uc001tlp.2	+	10	974	c.752T>C	c.(751-753)ATT>ACT	p.I251T	POLR3B_uc001tlq.2_Missense_Mutation_p.I193T	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	251					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						GACCAGGAAATTGTGCAGATG	0.453													C	106786837	T	C	106786837	3	2	65	1	0	0	0	0	1	0	0	0	12229	1493	52	3	790	3	POLR3B	12	106786837	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	325623	106786837	27065058	666	47492											
SELPLG	6404	broad.mit.edu	37	chr12	109016933	109016933	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgggctcttggccttggacAggcccccattggctgtggca	14	14	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:109016933A>G	uc001tni.2	-	2	1311	c.1151T>C	c.(1150-1152)CTG>CCG	p.L384P	SELPLG_uc001tnh.2_Missense_Mutation_p.L374P|SELPLG_uc010sxe.1_Missense_Mutation_p.L400P	NM_003006	NP_002997	Q14242	SELPL_HUMAN	selectin P ligand	384	Cytoplasmic (Potential).				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding				0						GGCCTTGGACAGGCCCCCATT	0.637													G	109016933	A	G	109016933	3	3	65	1	0	0	0	0	1	0	0	0	14020	188	7	3	91	3	SELPLG	12	109016933	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	2230096	109016933	24834962	667	47493											
SSH1	54434	broad.mit.edu	37	chr12	109192889	109192889	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctttttccagaggccagccGaattccttcattgcataggc	9	12	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:109192889G>A	uc001tnm.2	-	13	1323	c.1236C>T	c.(1234-1236)TTC>TTT	p.F412F	SSH1_uc001tnl.2_Silent_p.F100F|SSH1_uc010sxg.1_Silent_p.F423F|SSH1_uc001tnn.3_Silent_p.F412F	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	412	Tyrosine-protein phosphatase.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4						GAGGCCAGCCGAATTCCTTCA	0.542													A	109192889	G	A	109192889	2	1	65	1	0	0	0	0	0	0	0	1	15183	1049	37	1		1	SSH1	12	109192889	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	175956	109192889	24659006	668	47494											
ACACB	32	broad.mit.edu	37	chr12	109704115	109704115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacatcagcccagctgagcGggcgcaggtcgttcacctgc	13	15	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:109704115G>A	uc001tob.2	+	53	7444	c.7325G>A	c.(7324-7326)CGG>CAG	p.R2442Q	ACACB_uc001toc.2_Missense_Mutation_p.R2442Q|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.R1108Q	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	2442					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	CCAGCTGAGCGGGCGCAGGTC	0.652													A	109704115	G	A	109704115	3	1	65	1	0	0	0	0	1	0	0	0	107	1116	39	1	7531	1	ACACB	12	109704115	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	511226	109704115	24147780	669	47495											
MYL2	4633	broad.mit.edu	37	chr12	111348961	111348961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcacgtcaggggggaaggCggcgaacatctggtcaacct	15	10	4	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:111348961C>T	uc001try.3	-	7	492	c.421G>A	c.(421-423)GCC>ACC	p.A141T	MYL2_uc001trx.3_Missense_Mutation_p.A122T	NM_000432	NP_000423	P10916	MLRV_HUMAN	slow cardiac myosin regulatory light chain 2	141	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			ovary(1)	1						GGGGGGAAGGCGGCGAACATC	0.627													T	111348961	C	T	111348961	3	4	65	1	0	0	0	0	1	0	0	0	10047	768	27	1	83	1	MYL2	12	111348961	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1644846	111348961	22502934	670	47496											
NAA25	80018	broad.mit.edu	37	chr12	112485518	112485518	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttaagtctctgttgtctcGcaaatcttcccatggaatgt	7	9	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:112485518G>A	uc001ttm.2	-	17	1977	c.1957C>T	c.(1957-1959)CGA>TGA	p.R653*	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Nonsense_Mutation_p.R625*|NAA25_uc009zwa.1_Nonsense_Mutation_p.R653*	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	653						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						CTGTTGTCTCGCAAATCTTCC	0.353													A	112485518	G	A	112485518	4	1	65	1	0	0	0	0	0	1	0	0	10121	1095	38	1	993	1	NAA25	12	112485518	Nonsense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1136557	112485518	21366377	671	47497											
NOS1	4842	broad.mit.edu	37	chr12	117664550	117664550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgagccaggaggagcatacGccgtggtgaattggtccttc	14	9	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:117664550G>A	uc001twm.1	-	24	4328	c.3642C>T	c.(3640-3642)GGC>GGT	p.G1214G		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1214	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGGAGCATACGCCGTGGTGAA	0.542													A	117664550	G	A	117664550	2	1	65	1	0	0	0	0	0	0	0	1	10541	1074	38	1		1	NOS1	12	117664550	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	5179032	117664550	16187345	672	47498											
MLXIP	22877	broad.mit.edu	37	chr12	122614587	122614587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acacagacatgctcatgtcgGaattcagcgacaccctcttc	7	14	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:122614587G>A	uc001ubq.2	+	6	838	c.838G>A	c.(838-840)GAA>AAA	p.E280K	MLXIP_uc001ubr.2_Missense_Mutation_p.E31K|MLXIP_uc001ubs.1_5'Flank	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	MLX interacting protein	280	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			ovary(2)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GCTCATGTCGGAATTCAGCGA	0.582													A	122614587	G	A	122614587	3	1	65	1	0	0	0	0	1	0	0	0	9636	1175	41	4	860	4	MLXIP	12	122614587	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	4950037	122614587	11237308	673	47499											
VPS33A	65082	broad.mit.edu	37	chr12	122723199	122723199	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccactattacacacggattGgaggcaaactagtcttaaca	7	11	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:122723199G>A	uc001ucd.2	-	10	1350	c.1237C>T	c.(1237-1239)CAA>TAA	p.Q413*	VPS33A_uc001ucc.2_RNA	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33A	413					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			skin(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CACACGGATTGGAGGCAAACT	0.338													A	122723199	G	A	122723199	4	1	65	1	0	0	0	0	0	1	0	0	17198	1357	47	4	569	4	VPS33A	12	122723199	Nonsense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	108612	122723199	11128696	674	47500											
CLIP1	6249	broad.mit.edu	37	chr12	122845598	122845598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggctgcgcttcaggctggCggacgtggtcgccatcactc	15	13	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:122845598C>T	uc001ucg.1	-	4	1019	c.913G>A	c.(913-915)GCC>ACC	p.A305T	CLIP1_uc001uch.1_Missense_Mutation_p.A305T|CLIP1_uc001uci.1_Missense_Mutation_p.A305T|CLIP1_uc001ucj.1_Missense_Mutation_p.A6T|CLIP1_uc010tae.1_Missense_Mutation_p.A305T	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	305	Ser-rich.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTCAGGCTGGCGGACGTGGTC	0.602													T	122845598	C	T	122845598	3	4	65	1	0	0	0	0	1	0	0	0	3532	768	27	1	3454	1	CLIP1	12	122845598	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	122399	122845598	11006297	675	47501											
NCOR2	9612	broad.mit.edu	37	chr12	124827627	124827627	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggctgcgatacaggtccacGccactcacgccccgaagcag	11	16	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:124827627G>T	uc010tba.1	-	33	5001	c.4884C>A	c.(4882-4884)GGC>GGA	p.G1628G	NCOR2_uc010tay.1_Silent_p.G1627G|NCOR2_uc010taz.1_Silent_p.G1611G|NCOR2_uc010tbb.1_Silent_p.G1620G|NCOR2_uc010tbc.1_Silent_p.G1610G|NCOR2_uc010tax.1_5'Flank	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1628					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ACAGGTCCACGCCACTCACGC	0.672													T	124827627	G	T	124827627	2	4	65	1	0	0	0	0	0	0	0	1	10236	1074	38	5		5	NCOR2	12	124827627	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1982029	124827627	9024268	676	47502											
PIWIL1	9271	broad.mit.edu	37	chr12	130855769	130855769	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaagtggtagtgtttcTcccacacattacaatgtcat	9	8	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:130855769T>G	uc001uik.2	+	20	2460	c.2370T>G	c.(2368-2370)TCT>TCG	p.S790S	PIWIL1_uc001uij.1_Silent_p.S790S	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	790	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GTAGTGTTTCTCCCACACATT	0.448													G	130855769	T	G	130855769	2	3	65	1	0	0	0	0	0	0	0	1	11957	1538	54	5		5	PIWIL1	12	130855769	Silent	SNP	T	TCGA-BR-8081-01A-11D-2340-08	6028142	130855769	2996126	677	47503											
GALNT9	50614	broad.mit.edu	37	chr12	132688125	132688125	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcggcggcgcgcagggcGttgcgcttggcatagtagtc	16	12	0	0	rs149887053	by1000genomes	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:132688125G>A	uc001ukc.3	-	7	1304	c.1188C>T	c.(1186-1188)AAC>AAT	p.N396N	GALNT9_uc009zyr.2_Silent_p.N170N|GALNT9_uc001ukb.2_Silent_p.N253N|GALNT9_uc001uka.2_Silent_p.N30N	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	396	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CGCGCAGGGCGTTGCGCTTGG	0.642													A	132688125	G	A	132688125	2	1	65	1	0	0	0	0	0	0	0	1	6220	1136	40	1		1	GALNT9	12	132688125	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1832356	132688125	1163770	678	47504											
GOLGA3	2802	broad.mit.edu	37	chr12	133351739	133351739	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtaccgtcttggccgcGccgcggcgtaggtccagctt	14	14	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:133351739G>A	uc001ukz.1	-	22	4690	c.4131C>T	c.(4129-4131)GGC>GGT	p.G1377G	GOLGA3_uc001ula.1_Silent_p.G1377G	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1377	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCTTGGCCGCGCCGCGGCGTA	0.592													A	133351739	G	A	133351739	2	1	65	1	0	0	0	0	0	0	0	1	6554	1074	38	1		1	GOLGA3	12	133351739	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	663614	133351739	500156	679	47505											
TUBA3C	7278	broad.mit.edu	37	chr13	19751314	19751314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgaccggggcgtaggtgGccagggggaagtggatgcgg	22	6	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:19751314G>A	uc009zzj.2	-	4	858	c.809C>T	c.(808-810)GCC>GTC	p.A270V		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	270					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)|skin(2)	5		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGCGTAGGTGGCCAGGGGGAA	0.612													A	19751314	G	A	19751314	3	1	65	1	0	0	0	0	1	0	0	0	16743	1203	42	2	551	2	TUBA3C	13	19751314	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08		19751314	95418564	680	47506											
ATP12A	479	broad.mit.edu	37	chr13	25280558	25280558	+	Frame_Shift_Del	DEL	C	C	-													gattgtctttgcccggacatCcccccagcagaagctgatca							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:25280557_25280557TC>T	uc010aaa.3	+	14	2476	c.2143_2143TC>T	c.(2143-2145)tccfs	p.S715fs	ATP12A_uc001upp.3_Frame_Shift_Del_p.S709fs	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	709					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TGCCCGGACATCCCCCCAGCA	0.572													-	25280558	C	-	25280558	7	5	65	1	0	1	0	1	0	0	0	0	1122	855	30	0	2202	0	ATP12A	13	25280558	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	5529244	25280558	89889320	681	47507											
MTUS2	23281	broad.mit.edu	37	chr13	29600969	29600969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaagggtcttcagttccGgattgatggtgtctggaatc	13	8	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:29600969G>A	uc001usl.3	+	1	2222	c.2164G>A	c.(2164-2166)GGA>AGA	p.G722R		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	712	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						CTTCAGTTCCGGATTGATGGT	0.483													A	29600969	G	A	29600969	3	1	65	1	0	0	0	0	1	0	0	0	9966	1117	39	1	2166	1	MTUS2	13	29600969	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	4320411	29600969	85568909	682	47508											
NBEA	26960	broad.mit.edu	37	chr13	35733663	35733664	+	Frame_Shift_Ins	INS	-	-	A													tggaagtgttggtatcattaINSaaaaaaatgaagaaaaggat							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:35733662_35733663T>TA	uc021rid.1	+	21	3888_3889	c.3354_3355T>TA	c.(3352-3357)attaaafs	p.I1118fs	NBEA_uc021ric.1_Frame_Shift_Ins_p.I1118fs|NBEA_uc010abi.3_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1118						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTGGTATCATTAAAAAAAATGA	0.356													A	35733664	-	A	35733663	7	5	65	1	0	1	1	0	0	0	0	0	10187	363	13	0	3441	0	NBEA	13	35733663	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	6132694	35733663	79436215	683	47509											
SPG20	23111	broad.mit.edu	37	chr13	36909272	36909272	+	Frame_Shift_Del	DEL	A	A	-													acctcccctgcaggatttacAaaaaaaatctgtactccatt							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:36909271_36909271CA>C	uc001uvn.3	-	2	967	c.697_697TG>G	c.(697-699)gtafs	p.V233fs	SPG20_uc010ten.2_Frame_Shift_Del_p.V233fs|SPG20_uc001uvm.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvo.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvq.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvp.2_Frame_Shift_Del_p.V233fs	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	233					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		GCAGGATTTACAAAAAAAATC	0.438													-	36909272	A	-	36909272	7	5	65	1	0	1	0	1	0	0	0	0	15041	127	5	0	1336	0	SPG20	13	36909272	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	1175609	36909272	78260606	684	47510											
KIAA0564	23078	broad.mit.edu	37	chr13	42144798	42144798	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgttctgtcccttctaaCgtgtggtccccactcatgca	8	14	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:42144798C>T	uc001uyj.2	-	44	5485	c.5415G>A	c.(5413-5415)ACG>ACA	p.T1805T		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1805	VWFA.					extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TCCCTTCTAACGTGTGGTCCC	0.423													T	42144798	C	T	42144798	2	4	65	1	0	0	0	0	0	0	0	1	8185	523	19	1		1	KIAA0564	13	42144798	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	5235526	42144798	73025080	685	47511											
EPSTI1	94240	broad.mit.edu	37	chr13	43544769	43544769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttgtatctcatttctccGgtttatatttggtgctatca	6	8	4	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:43544769G>A	uc001uyw.1	-	2	302	c.226C>T	c.(226-228)CGG>TGG	p.R76W	EPSTI1_uc001uyx.1_Missense_Mutation_p.R76W	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 isoform 1	76	Potential.									ovary(1)	1		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TCATTTCTCCGGTTTATATTT	0.323													A	43544769	G	A	43544769	3	1	65	1	0	0	0	0	1	0	0	0	5198	1115	39	1	1054	1	EPSTI1	13	43544769	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1399971	43544769	71625109	686	47512											
PCDH17	27253	broad.mit.edu	37	chr13	58207391	58207391	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaggtgattgactccaaCgacaacagcccggtcttcga	11	11	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:58207391C>T	uc001vhq.1	+	1	1603	c.711C>T	c.(709-711)AAC>AAT	p.N237N	PCDH17_uc010aec.1_Silent_p.N237N	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	237	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TTGACTCCAACGACAACAGCC	0.602													T	58207391	C	T	58207391	2	4	65	1	0	0	0	0	0	0	0	1	11512	535	19	1		1	PCDH17	13	58207391	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	14662622	58207391	56962487	687	47513											
PCDH20	64881	broad.mit.edu	37	chr13	61986571	61986572	+	Frame_Shift_Ins	INS	-	-	A													tgtagcatacagcttagtcaINSaaaaggcattgggtgagttg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:61986570_61986571C>CA	uc001vid.4	-	1	2025_2026	c.1661_1662G>TG	c.(1660-1662)ttgfs	p.L554fs	PCDH20_uc010thj.2_Frame_Shift_Ins_p.L554fs	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	527	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ACAGCTTAGTCAAAAAGGCATT	0.401													A	61986572	-	A	61986571	7	5	65	1	0	1	1	0	0	0	0	0	11515	131	5	0	1198	0	PCDH20	13	61986571	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	3779180	61986571	53183307	688	47514											
TBC1D4	9882	broad.mit.edu	37	chr13	76055542	76055542	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgagatatgctgcgccttgTgctcgaagatgaataccgcc	12	11	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:76055542T>C	uc001vjl.1	-	1	709	c.362A>G	c.(361-363)CAC>CGC	p.H121R	TBC1D4_uc010aer.2_Missense_Mutation_p.H121R|TBC1D4_uc010aes.2_Missense_Mutation_p.H121R	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	121	PID 1.					cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTGCGCCTTGTGCTCGAAGAT	0.667													C	76055542	T	C	76055542	3	2	65	1	0	0	0	0	1	0	0	0	15619	1696	59	3	3618	3	TBC1D4	13	76055542	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	14068971	76055542	39114336	689	47515											
SLITRK5	26050	broad.mit.edu	37	chr13	88328684	88328684	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtgcgccccacctctcgGcagccctctaaggacttggg	13	15	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:88328684G>A	uc001vln.2	+	2	1260	c.1041G>A	c.(1039-1041)CGG>CGA	p.R347R	SLITRK5_uc010tic.1_Silent_p.R106R	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	347	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCACCTCTCGGCAGCCCTCTA	0.592													A	88328684	G	A	88328684	2	1	65	1	0	0	0	0	0	0	0	1	14746	1190	42	2		2	SLITRK5	13	88328684	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	12273142	88328684	26841194	690	47516											
ABCC4	10257	broad.mit.edu	37	chr13	95726498	95726498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcagggacccaaaggcaaCgatgatgacaaacatggcac	10	10	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:95726498C>T	uc001vmd.3	-	23	3006	c.2887G>A	c.(2887-2889)GTT>ATT	p.V963I	ABCC4_uc010afk.2_Missense_Mutation_p.V916I	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	963	Helical; (Potential).|ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CCAAAGGCAACGATGATGACA	0.403													T	95726498	C	T	95726498	3	4	65	1	0	0	0	0	1	0	0	0	55	536	19	1	1126	1	ABCC4	13	95726498	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	7397814	95726498	19443380	691	47517											
UBAC2	337867	broad.mit.edu	37	chr13	99966382	99966382	+	Frame_Shift_Del	DEL	T	T	-													tgtttgctctgtttgtaccaTtttactgctccataccaaga							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:99966381_99966381AT>A	uc010tiu.2	+	4	821	c.486_486AT>A	c.(484-486)ccafs	p.P162fs	UBAC2_uc001voa.4_Frame_Shift_Del_p.P140fs|UBAC2_uc001vob.4_Frame_Shift_Del_p.P113fs|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Frame_Shift_Del_p.P27fs|UBAC2_uc001voc.3_Frame_Shift_Del_p.P105fs|UBAC2_uc010tiw.2_Intron|MIR548AN_uc021rly.1_Intron|UBAC2_uc001voh.3_5'UTR	NM_177967	NP_808882	Q8NBM4	UBAC2_HUMAN	Homo sapiens UBA domain containing 2 (UBAC2), transcript variant 2, mRNA.	140						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGTTTGTACCATTTTACTGCT	0.373													-	99966382	T	-	99966382	7	5	65	1	0	1	0	1	0	0	0	0	16832	1493	52	0	599	0	UBAC2	13	99966382	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	4239884	99966382	15203496	692	47518											
FAM155A	728215	broad.mit.edu	37	chr13	108518597	108518597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagtctgtgtgcctgggcGgcgggcgaggactcccccat	17	12	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:108518597G>A	uc001vql.2	-	1	864	c.348C>T	c.(346-348)GCC>GCT	p.A116A		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	116						integral to membrane	binding			skin(1)	1						GTGCCTGGGCGGCGGGCGAGG	0.562													A	108518597	G	A	108518597	2	1	65	1	0	0	0	0	0	0	0	1	5465	1103	39	1		1	FAM155A	13	108518597	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	8552215	108518597	6651281	693	47519											
PROZ	8858	broad.mit.edu	37	chr13	113818958	113818958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaacagtgtgtgccccacGgtgagtgctcagaccacagc	11	13	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:113818958G>A	uc001vta.1	+	5	512	c.505G>A	c.(505-507)GAC>AAC	p.D169N	PROZ_uc010agr.1_Missense_Mutation_p.D191N	NM_003891	NP_003882	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma	169					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TGTGCCCCACGGTGAGTGCTC	0.587													A	113818958	G	A	113818958	3	1	65	1	0	0	0	0	1	0	0	0	12562	1130	39	1	523	1	PROZ	13	113818958	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	5300361	113818958	1350920	694	47520											
OR4K2	390431	broad.mit.edu	37	chr14	20344817	20344817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaatatgcaagcccctgCactatgcttctgtcattagt	7	11	2	0	rs145217057		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:20344817C>T	uc001vwh.1	+	1	391	c.391C>T	c.(391-393)CAC>TAC	p.H131Y		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAAGCCCCTGCACTATGCTTC	0.453													T	20344817	C	T	20344817	3	4	65	1	0	0	0	0	1	0	0	0	11072	710	25	2	393	2	OR4K2	14	20344817	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08		20344817	87004723	695	47521											
ACIN1	22985	broad.mit.edu	37	chr14	23530554	23530554	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttcgcacgttccttgcggCggcggtcacgggaccttgat	13	13	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:23530554C>A	uc001wit.3	-	17	3879	c.3551G>T	c.(3550-3552)CGC>CTC	p.R1184L	ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.R426L|ACIN1_uc001wiq.3_Missense_Mutation_p.R426L|ACIN1_uc001wir.3_Missense_Mutation_p.R457L|ACIN1_uc001wis.3_Missense_Mutation_p.R865L|ACIN1_uc010akg.2_Missense_Mutation_p.R1171L	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1184	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTCCTTGCGGCGGCGGTCACG	0.567													A	23530554	C	A	23530554	3	1	65	1	0	0	0	0	1	0	0	0	142	768	27	5	486	5	ACIN1	14	23530554	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	3185737	23530554	83818986	696	47522											
IPO4	79711	broad.mit.edu	37	chr14	24652234	24652234	+	Frame_Shift_Del	DEL	G	G	-													agagctcagcgaggcgcccaGggggcttcagtgtgagggtc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:24652233_24652233AG>A	uc001wmv.1	-	22	3391	c.2370_2370CT>T	c.(2368-2370)cctfs	p.P790fs	IPO4_uc001wmt.1_Frame_Shift_Del_p.P268fs|IPO4_uc001wmu.2_Frame_Shift_Del_p.P452fs|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Frame_Shift_Del_p.P654fs|IPO4_uc001wmy.1_Frame_Shift_Del_p.P654fs|IPO4_uc001wmz.2_Frame_Shift_Del_p.P790fs	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	790					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CGAGGCGCCCAGGGGGCTTCA	0.672													-	24652234	G	-	24652234	7	5	65	1	0	1	0	1	0	0	0	0	7795	1000	35	0	908	0	IPO4	14	24652234	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	1121680	24652234	82697306	697	47523											
CIDEB	27141	broad.mit.edu	37	chr14	24775286	24775286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgtcaaaggtgaatcgggCgatgtccttgctgtgcttgg	14	9	1	1	rs147369401		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:24775286C>T	uc001won.2	-	4	518	c.394G>A	c.(394-396)GCC>ACC	p.A132T	CIDEB_uc001woo.2_Missense_Mutation_p.A132T|CIDEB_uc001wop.2_Missense_Mutation_p.A132T|LTB4R2_uc001woq.1_5'Flank	NM_014430	NP_055245	Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	132				A -> G (in Ref. 1; AAF23324).	apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis	cytosol					0				GBM - Glioblastoma multiforme(265;0.0181)		GTGAATCGGGCGATGTCCTTG	0.527													T	24775286	C	T	24775286	3	4	65	1	0	0	0	0	1	0	0	0	3426	768	27	1	273	1	CIDEB	14	24775286	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	123052	24775286	82574254	698	47524											
NFATC4	4776	broad.mit.edu	37	chr14	24838800	24838800	+	Frame_Shift_Del	DEL	C	C	-													tcggtattccccgacctccaCcccctcggcctggcatgcat							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:24838799_24838799AC>A	uc001wpc.3	+	1	516	c.195_195AC>A	c.(193-195)ccafs	p.P65fs	NFATC4_uc010alr.3_Frame_Shift_Del_p.P128fs|NFATC4_uc010tok.2_Frame_Shift_Del_p.P128fs|NFATC4_uc010tol.2_Frame_Shift_Del_p.P128fs|NFATC4_uc010als.2_Frame_Shift_Del_p.P78fs|NFATC4_uc010too.2_Frame_Shift_Del_p.P78fs|NFATC4_uc010tom.2_Frame_Shift_Del_p.P78fs|NFATC4_uc010ton.2_Frame_Shift_Del_p.P78fs|NFATC4_uc010toq.2_Frame_Shift_Del_p.P97fs|NFATC4_uc010alt.3_Frame_Shift_Del_p.P97fs|NFATC4_uc010top.2_Frame_Shift_Del_p.P97fs|NFATC4_uc010alu.3_Frame_Shift_Del_p.P65fs|NFATC4_uc010tor.2_Frame_Shift_Del_p.P65fs|NFATC4_uc010tos.2_5'UTR|NFATC4_uc010tot.2_Frame_Shift_Del_p.P53fs|NFATC4_uc010tou.2_5'UTR|NFATC4_uc010tov.2_Frame_Shift_Del_p.P53fs|NFATC4_uc010tow.2_5'UTR|NFATC4_uc010alv.3_Frame_Shift_Del_p.P53fs|NFATC4_uc010tox.2_5'UTR	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	65	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCCGACCTCCACCCCCTCGGC	0.687													-	24838800	C	-	24838800	7	5	65	1	0	1	0	1	0	0	0	0	10365	507	18	0	395	0	NFATC4	14	24838800	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	63514	24838800	82510740	699	47525											
ARHGAP5	394	broad.mit.edu	37	chr14	32562346	32562347	+	Frame_Shift_Ins	INS	-	-	A													cttgataaaatcattggtgaINSaaaaaggaggcgaatacaga							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:32562345_32562346G>GA	uc001wrl.3	+	1	2709_2710	c.2470_2471G>GA	c.(2470-2472)gaafs	p.E824fs	ARHGAP5_uc001wrm.3_Frame_Shift_Ins_p.E824fs|ARHGAP5_uc001wrn.3_Frame_Shift_Ins_p.E824fs|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	824					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AATCATTGGTGAAAAAAGGAGG	0.361													A	32562347	-	A	32562346	7	5	65	1	0	1	1	0	0	0	0	0	886	246	9	0	2473	0	ARHGAP5	14	32562346	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	7723546	32562346	74787194	700	47526											
CTAGE5	4253	broad.mit.edu	37	chr14	39815175	39815175	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttgttctaattctggtagActgtctggaccagcagaact	9	8	3	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:39815175A>T	uc001wvg.3	+	21	2235	c.1899A>T	c.(1897-1899)AGA>AGT	p.R633S	CTAGE5_uc010tqe.1_Missense_Mutation_p.R595S|CTAGE5_uc001wuz.3_Missense_Mutation_p.R621S|CTAGE5_uc001wuy.3_Missense_Mutation_p.R553S|CTAGE5_uc001wvb.3_Missense_Mutation_p.R561S|CTAGE5_uc001wvc.3_Missense_Mutation_p.R535S|CTAGE5_uc001wva.3_Missense_Mutation_p.R604S|CTAGE5_uc001wvh.3_Missense_Mutation_p.R590S|CTAGE5_uc001wvf.3_Missense_Mutation_p.R558S|CTAGE5_uc001wvi.3_Missense_Mutation_p.R638S|CTAGE5_uc010amz.2_Missense_Mutation_p.R249S|CTAGE5_uc001wvj.3_Missense_Mutation_p.R604S	NM_005930	NP_005921	O15320	CTGE5_HUMAN	CTAGE family, member 5 isoform 1	633	Pro-rich.						enzyme activator activity|protein binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		ATTCTGGTAGACTGTCTGGAC	0.348													T	39815175	A	T	39815175	3	4	65	1	0	0	0	0	1	0	0	0	3994	272	10	5	2012	5	CTAGE5	14	39815175	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	7252829	39815175	67534365	701	47527											
C14orf106	55320	broad.mit.edu	37	chr14	45711523	45711523	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaattagtactgagagtcTcagcattagtattttgaaat	7	5	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:45711523T>C	uc001wwf.2	-	4	1316	c.857A>G	c.(856-858)GAG>GGG	p.E286G	C14orf106_uc010anh.2_RNA	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	286					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						ACTGAGAGTCTCAGCATTAGT	0.368													C	45711523	T	C	45711523	3	2	65	1	0	0	0	0	1	0	0	0	1738	1551	54	3	2597	3	C14orf106	14	45711523	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	5896348	45711523	61638017	702	47528											
SOS2	6655	broad.mit.edu	37	chr14	50666416	50666416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaacacttaccttatccGcacacattgacactttaatg	4	11	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:50666416G>A	uc001wxs.3	-	4	601	c.503C>T	c.(502-504)GCG>GTG	p.A168V	SOS2_uc010tql.1_Missense_Mutation_p.A168V	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	168					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					TACCTTATCCGCACACATTGA	0.299													A	50666416	G	A	50666416	3	1	65	1	0	0	0	0	1	0	0	0	14937	1087	38	1	3575	1	SOS2	14	50666416	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	4954893	50666416	56683124	703	47529											
PTGDR	5729	broad.mit.edu	37	chr14	52735102	52735102	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatccagatggtccacgaGgagggctcgctgtcggtgct	14	10	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:52735102G>A	uc001wzq.2	+	1	672	c.570G>A	c.(568-570)GAG>GAA	p.E190E		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	190	Extracellular (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	p.E190K(1)		ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TGGTCCACGAGGAGGGCTCGC	0.637													A	52735102	G	A	52735102	2	1	65	1	0	0	0	0	0	0	0	1	12741	991	35	4		4	PTGDR	14	52735102	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2068686	52735102	54614438	704	47530											
PTGER2	5732	broad.mit.edu	37	chr14	52781549	52781549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtactggcttcgtacgcgCggaaccagaccctggtggca	14	12	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:52781549C>T	uc001wzr.2	+	1	534	c.283C>T	c.(283-285)CGG>TGG	p.R95W		NM_000956	NP_000947	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	95	Extracellular (Potential).					integral to plasma membrane	prostaglandin E receptor activity			lung(1)|breast(1)	2	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	TTCGTACGCGCGGAACCAGAC	0.632													T	52781549	C	T	52781549	3	4	65	1	0	0	0	0	1	0	0	0	12743	759	27	1	285	1	PTGER2	14	52781549	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	46447	52781549	54567991	705	47531											
DDHD1	80821	broad.mit.edu	37	chr14	53539354	53539354	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctagtataatacattatgtcCattgcactgctgttcagcat	6	9	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:53539354C>A	uc001xai.2	-	6	1694	c.1464G>T	c.(1462-1464)ATG>ATT	p.M488I	DDHD1_uc001xaj.2_Missense_Mutation_p.M495I|DDHD1_uc001xah.2_Missense_Mutation_p.M488I|DDHD1_uc001xag.2_Missense_Mutation_p.M70I	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	488					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)					ACATTATGTCCATTGCACTGC	0.343													A	53539354	C	A	53539354	3	1	65	1	0	0	0	0	1	0	0	0	4326	594	21	5	1270	5	DDHD1	14	53539354	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	757805	53539354	53810186	706	47532											
CNIH	10175	broad.mit.edu	37	chr14	54896992	54896992	+	Frame_Shift_Del	DEL	A	A	-													aacttacccatataggtagtAaaaaaatgctagaagataaa							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:54896992delA	uc001xat.1	-	4	497	c.394delT	c.(394-396)TACfs	p.Y132fs	CNIH_uc001xav.1_Intron	NM_005776	NP_005767	O95406	CNIH_HUMAN	cornichon-like	132	Helical; (Potential).				immune response|intracellular signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane					0				GBM - Glioblastoma multiforme(112;0.00341)		TATAGGTAGTAAAAAAATGCT	0.348													-	54896992	A	-	54896992	7	5	65	1	0	1	0	1	0	0	0	0	3602	362	13	0	48	0	CNIH	14	54896992	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	1357638	54896992	52452548	707	47533											
JKAMP	51528	broad.mit.edu	37	chr14	59954419	59954419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaggacagagaacgaatGcacagaaatattgtcagcct	10	8	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:59954419G>A	uc001xei.3	+	3	668	c.166G>A	c.(166-168)GCA>ACA	p.A56T	JKAMP_uc001xef.3_Missense_Mutation_p.A42T|JKAMP_uc001xeh.3_Missense_Mutation_p.A36T|JKAMP_uc001xeg.3_Missense_Mutation_p.A50T|JKAMP_uc010try.1_5'UTR|JKAMP_uc001xej.3_5'UTR	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	JNK1-associated membrane protein isoform 2	57	Lumenal (Potential).				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)	1						GAGAACGAATGCACAGAAATA	0.358													A	59954419	G	A	59954419	3	1	65	1	0	0	0	0	1	0	0	0	7949	1319	46	2	134	2	JKAMP	14	59954419	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	5057427	59954419	47395121	708	47534											
SYNE2	23224	broad.mit.edu	37	chr14	64632037	64632037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttaaggattttggagtccGgctggaatctttaaaaggtc	12	5	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:64632037G>A	uc001xgm.2	+	90	16744	c.16514G>A	c.(16513-16515)CGG>CAG	p.R5505Q	SYNE2_uc001xgl.2_Missense_Mutation_p.R5505Q|SYNE2_uc010apy.2_Missense_Mutation_p.R1890Q|SYNE2_uc001xgn.2_Missense_Mutation_p.R467Q|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR|SYNE2_uc001xgq.2_5'Flank	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5505	Cytoplasmic (Potential).|Potential.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTTGGAGTCCGGCTGGAATCT	0.338													A	64632037	G	A	64632037	3	1	65	1	0	0	0	0	1	0	0	0	15443	1116	39	1	16868	1	SYNE2	14	64632037	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	4677618	64632037	42717503	709	47535											
GALNTL1	57452	broad.mit.edu	37	chr14	69798192	69798192	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctaggaccacacccgCgtggtgagtcccatcattga	9	15	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:69798192C>T	uc010aqu.1	+	7	795	c.702C>T	c.(700-702)CGC>CGT	p.R234R	GALNTL1_uc001xla.1_Silent_p.R234R|GALNTL1_uc001xlb.1_Silent_p.R234R	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	234	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)	2				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		ACCACACCCGCGTGGTGAGTC	0.562													T	69798192	C	T	69798192	2	4	65	1	0	0	0	0	0	0	0	1	6221	755	27	1		1	GALNTL1	14	69798192	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	5166155	69798192	37551348	710	47536											
PCNX	22990	broad.mit.edu	37	chr14	71514590	71514590	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttttagcagccctacAtatcagtatgttacagtcat	5	11	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:71514590A>T	uc001xmo.2	+	22	4673	c.4227A>T	c.(4225-4227)ACA>ACT	p.T1409T	PCNX_uc010are.1_Silent_p.T1298T|PCNX_uc010arf.1_Silent_p.T269T	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1409						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GCAGCCCTACATATCAGTATG	0.378													T	71514590	A	T	71514590	2	4	65	1	0	0	0	0	0	0	0	1	11591	204	8	5		5	PCNX	14	71514590	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	1716398	71514590	35834950	711	47537											
C14orf169	79697	broad.mit.edu	37	chr14	73959112	73959112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatggattacatgggggCccagcattcagattctaagg	11	9	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:73959112C>T	uc001xok.1	+	3	1470	c.1391C>T	c.(1390-1392)GCC>GTC	p.A464V	HEATR4_uc010tua.1_Intron	NM_024644	NP_078920	Q9H6W3	NO66_HUMAN	chromosome 14 open reading frame 169	464					negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215)		TACATGGGGGCCCAGCATTCA	0.547													T	73959112	C	T	73959112	3	4	65	1	0	0	0	0	1	0	0	0	1758	739	26	2	1392	2	C14orf169	14	73959112	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2444522	73959112	33390428	712	47538											
LTBP2	4053	broad.mit.edu	37	chr14	74969585	74969585	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggccggaagtggaccccGgcctcccgctctgcctcaat	11	18	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:74969585G>A	uc001xqa.2	-	34	5328	c.4941C>T	c.(4939-4941)GCC>GCT	p.A1647A		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1647					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGTGGACCCCGGCCTCCCGCT	0.627													A	74969585	G	A	74969585	2	1	65	1	0	0	0	0	0	0	0	1	9074	1103	39	1		1	LTBP2	14	74969585	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1010473	74969585	32379955	713	47539											
LTBP2	4053	broad.mit.edu	37	chr14	74995322	74995322	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgccagttcctcctcctcGgctttcctcatggacaggcg	9	16	1	0	rs150924217		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:74995322G>A	uc001xqa.2	-	12	2619	c.2232C>T	c.(2230-2232)GCC>GCT	p.A744A		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	744					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCTCCTCCTCGGCTTTCCTCA	0.672													A	74995322	G	A	74995322	2	1	65	1	0	0	0	0	0	0	0	1	9074	1103	39	1		1	LTBP2	14	74995322	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	25737	74995322	32354218	714	47540											
KIAA0317	9870	broad.mit.edu	37	chr14	75130503	75130503	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcataggagtcatatgTagggaggcacagctggttaa	12	7	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:75130503T>C	uc001xqb.2	-	20	2897	c.2392A>G	c.(2392-2394)ACA>GCA	p.T798A		NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	798	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)		GAGTCATATGTAGGGAGGCAC	0.532													C	75130503	T	C	75130503	3	2	65	1	0	0	0	0	1	0	0	0	8167	1638	57	3	83	3	KIAA0317	14	75130503	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	135181	75130503	32219037	715	47541											
YLPM1	56252	broad.mit.edu	37	chr14	75265533	75265533	+	Frame_Shift_Del	DEL	A	A	-													agaaccaggagatggtggggAaaaaatgtatccatatcacc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:75265532_75265532GA>G	uc001xqj.4	+	4	3656	c.3532_3532GA>G	c.(3532-3534)gaafs	p.E1178fs	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	983	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGATGGTGGGGAAAAAATGTA	0.517													-	75265533	A	-	75265533	7	5	65	1	0	1	0	1	0	0	0	0	17483	246	9	0	3551	0	YLPM1	14	75265533	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	135030	75265533	32084007	716	47542											
ISM2	145501	broad.mit.edu	37	chr14	77948722	77948722	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccagccagccctggtcccAgttgtctgtagttccattga	11	13	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:77948722A>G	uc001xtz.2	-	4	990	c.916T>C	c.(916-918)TGG>CGG	p.W306R	ISM2_uc001xua.2_Intron|ISM2_uc001xty.2_Missense_Mutation_p.W218R|ISM2_uc010tvl.1_Missense_Mutation_p.W225R	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	isthmin 2 homolog isoform 1	306						extracellular region				skin(1)	1						CCCTGGTCCCAGTTGTCTGTA	0.393													G	77948722	A	G	77948722	3	3	65	1	0	0	0	0	1	0	0	0	7861	188	7	3	815	3	ISM2	14	77948722	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	2683189	77948722	29400818	717	47543											
FLRT2	23768	broad.mit.edu	37	chr14	86089442	86089442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcaacacagcgtccagCcatgagcagacgacgtccca	11	15	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:86089442C>T	uc001xvr.2	+	2	2351	c.1584C>T	c.(1582-1584)AGC>AGT	p.S528S	FLRT2_uc010atd.2_Silent_p.S528S	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	528	Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CAGCGTCCAGCCATGAGCAGA	0.582													T	86089442	C	T	86089442	2	4	65	1	0	0	0	0	0	0	0	1	5939	738	26	2		2	FLRT2	14	86089442	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	8140720	86089442	21260098	718	47544											
CCDC88C	440193	broad.mit.edu	37	chr14	91760652	91760652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccaagttccccttgagaCgggagagcagctagaacaca	10	13	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:91760652C>T	uc010aty.2	-	23	4076	c.3977G>A	c.(3976-3978)CGT>CAT	p.R1326H		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	1326	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				CCCCTTGAGACGGGAGAGCAG	0.363													T	91760652	C	T	91760652	3	4	65	1	0	0	0	0	1	0	0	0	2865	536	19	1	2141	1	CCDC88C	14	91760652	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	5671210	91760652	15588888	719	47545											
SLC24A4	123041	broad.mit.edu	37	chr14	92790234	92790234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggcgagagatgctgccGcagcaagtcggcttcgtgtg	17	9	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:92790234G>A	uc001yak.2	+	1	33	c.9G>A	c.(7-9)CCG>CCA	p.P3P	SLC24A4_uc001yai.2_Intron|SLC24A4_uc010twm.1_Silent_p.P20P|SLC24A4_uc001yaj.2_Silent_p.P3P	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	20						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		AGATGCTGCCGCAGCAAGTCG	0.697													A	92790234	G	A	92790234	2	1	65	1	0	0	0	0	0	0	0	1	14468	1074	38	1		1	SLC24A4	14	92790234	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1029582	92790234	14559306	720	47546											
SERPINA6	866	broad.mit.edu	37	chr14	94770841	94770841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgaagggctggttgaaacGcaagatgataggcttggacg	16	5	0	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:94770841G>A	uc001ycv.2	-	5	1236	c.1132C>T	c.(1132-1134)CGT>TGT	p.R378C	SERPINA6_uc010auv.2_RNA	NM_001756	NP_001747	P08185	CBG_HUMAN	corticosteroid binding globulin precursor	378					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			skin(3)|ovary(1)|central_nervous_system(1)	5		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TGGTTGAAACGCAAGATGATA	0.542													A	94770841	G	A	94770841	3	1	65	1	0	0	0	0	1	0	0	0	14093	1087	38	1	89	1	SERPINA6	14	94770841	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1980607	94770841	12578699	721	47547											
SERPINA6	866	broad.mit.edu	37	chr14	94772522	94772522	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgaggtcatagactccagaGatggtgacctttggaatgta	12	8	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:94772522G>T	uc001ycv.2	-	4	1022	c.918C>A	c.(916-918)ATC>ATA	p.I306I	SERPINA6_uc010auv.2_RNA	NM_001756	NP_001747	P08185	CBG_HUMAN	corticosteroid binding globulin precursor	306					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			skin(3)|ovary(1)|central_nervous_system(1)	5		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AGACTCCAGAGATGGTGACCT	0.567													T	94772522	G	T	94772522	2	4	65	1	0	0	0	0	0	0	0	1	14093	932	33	5		5	SERPINA6	14	94772522	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1681	94772522	12577018	722	47548											
DICER1	23405	broad.mit.edu	37	chr14	95569709	95569709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttctcatatatgaaaggcGgccctcatgcgcatcagggt	11	11	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:95569709G>A	uc001ydw.2	-	22	4206	c.4024C>T	c.(4024-4026)CGC>TGC	p.R1342C	DICER1_uc010avh.1_Missense_Mutation_p.R240C|DICER1_uc001ydv.2_Missense_Mutation_p.R1332C|DICER1_uc001ydx.2_Missense_Mutation_p.R1342C|DICER1_uc001ydy.1_Missense_Mutation_p.R194C	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1342	RNase III 1.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TATGAAAGGCGGCCCTCATGC	0.403			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				A	95569709	G	A	95569709	3	1	65	1	0	0	0	0	1	0	0	0	4521	1116	39	1	1772	1	DICER1	14	95569709	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	797187	95569709	11779831	723	47549											
PPP1R13B	23368	broad.mit.edu	37	chr14	104216136	104216136	+	Frame_Shift_Del	DEL	T	T	-													aactttttcacatgcctgaaTttttttcccatagagacgtt							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:104216136delT	uc001yof.1	-	8	1247	c.964delA	c.(964-966)ATTfs	p.I322fs	PPP1R13B_uc001yog.1_Frame_Shift_Del_p.I189fs	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	322					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CATGCCTGAATTTTTTTCCCA	0.428													-	104216136	T	-	104216136	7	5	65	1	0	1	0	1	0	0	0	0	12357	1493	52	0	2348	0	PPP1R13B	14	104216136	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	8646427	104216136	3133404	724	47550											
KIF26A	26153	broad.mit.edu	37	chr14	104642480	104642480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggctcagcgaggtcagcGtctgcactgccgacagccgt	13	15	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:104642480G>A	uc001yos.3	+	12	3355	c.3355G>A	c.(3355-3357)GTC>ATC	p.V1119I		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1119					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CGAGGTCAGCGTCTGCACTGC	0.726													A	104642480	G	A	104642480	3	1	65	1	0	0	0	0	1	0	0	0	8294	1145	40	1	3401	1	KIF26A	14	104642480	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	426344	104642480	2707060	725	47551											
AHNAK2	113146	broad.mit.edu	37	chr14	105407181	105407181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggactgaaaacacaaaCtttggtttatagaatttagg	11	4	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:105407181C>T	uc010axc.1	-	7	14727	c.14607G>A	c.(14605-14607)AAG>AAA	p.K4869K	AHNAK2_uc001ypx.2_Silent_p.K4769K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4869						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)			AAAACACAAACTTTGGTTTAT	0.478													T	105407181	C	T	105407181	2	4	65	1	0	0	0	0	0	0	0	1	415	564	20	4		4	AHNAK2	14	105407181	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	764701	105407181	1942359	726	47552											
AHNAK2	113146	broad.mit.edu	37	chr14	105413931	105413931	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagctttgctctcggggcCtggacgtccacctccatgct	10	16	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:105413931C>A	uc010axc.1	-	7	7977	c.7857G>T	c.(7855-7857)CAG>CAT	p.Q2619H	AHNAK2_uc001ypx.2_Missense_Mutation_p.Q2519H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2619						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)			CTCTCGGGGCCTGGACGTCCA	0.602													A	105413931	C	A	105413931	3	1	65	1	0	0	0	0	1	0	0	0	415	680	24	5	9534	5	AHNAK2	14	105413931	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	6750	105413931	1935609	727	47553											
AHNAK2	113146	broad.mit.edu	37	chr14	105419812	105419812	+	Frame_Shift_Del	DEL	T	T	-													tttctgtcagaatttgttccTtttttaagcgtttttcatcg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:105419811_105419811CT>C	uc010axc.1	-	6	2097	c.1977_1977AG>G	c.(1975-1977)aagfs	p.K659fs	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Frame_Shift_Del_p.K559fs	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	659						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		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)			GAATTTGTTCCTTTTTTAAGC	0.418													-	105419812	T	-	105419812	7	5	65	1	0	1	0	1	0	0	0	0	415	1609	56	0	15415	0	AHNAK2	14	105419812	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	5881	105419812	1929728	728	47554											
MTA1	9112	broad.mit.edu	37	chr14	105936409	105936409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgcccacaggaagatcCgcaagctgctctcatcctcg	8	17	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:105936409C>T	uc001yqx.2	+	21	2192	c.2005C>T	c.(2005-2007)CGC>TGC	p.R669C	MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Missense_Mutation_p.R434C|CRIP2_uc010tyr.1_5'Flank|CRIP2_uc001yrc.2_5'Flank	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	669					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CAGGAAGATCCGCAAGCTGCT	0.716													T	105936409	C	T	105936409	3	4	65	1	0	0	0	0	1	0	0	0	9908	652	23	1	2087	1	MTA1	14	105936409	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	516597	105936409	1413131	729	47555											
MTA1	9112	broad.mit.edu	37	chr14	105936528	105936528	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacctgcgcccgtcaacgaCgagcccatcgtcatcgagga	10	17	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:105936528C>T	uc001yqx.2	+	21	2311	c.2124C>T	c.(2122-2124)GAC>GAT	p.D708D	MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Silent_p.D473D|CRIP2_uc010tyr.1_5'Flank|CRIP2_uc001yrc.2_5'Flank	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	708					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CCGTCAACGACGAGCCCATCG	0.488													T	105936528	C	T	105936528	2	4	65	1	0	0	0	0	0	0	0	1	9908	535	19	1		1	MTA1	14	105936528	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	119	105936528	1413012	730	47556											
C14orf80	283643	broad.mit.edu	37	chr14	105958492	105958492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actatgctcccagggctaccCgaggctggcactggcacaac	11	15	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:105958492C>T	uc001yrm.2	+	3	402	c.275C>T	c.(274-276)CCG>CTG	p.P92L	C14orf80_uc001yrj.2_Missense_Mutation_p.P53L|C14orf80_uc001yrk.2_Missense_Mutation_p.P51L|C14orf80_uc001yrn.2_Missense_Mutation_p.P92L|C14orf80_uc001yro.2_Missense_Mutation_p.P92L|C14orf80_uc010tys.1_5'UTR	NM_001134875	NP_001128347	Q86SX3	CN080_HUMAN	hypothetical protein LOC283643 isoform 1	92											0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)		CAGGGCTACCCGAGGCTGGCA	0.642													T	105958492	C	T	105958492	3	4	65	1	0	0	0	0	1	0	0	0	1781	652	23	1	313	1	C14orf80	14	105958492	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	21964	105958492	1391048	731	47557											
HERC2	8924	broad.mit.edu	37	chr15	28386693	28386693	+	Frame_Shift_Del	DEL	C	C	-													tgacttttgcgccttcaatgCccccgagctggcccctgtga							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:28386692_28386692GC>G	uc001zbj.3	-	77	12007	c.11901_11901GC>C	c.(11899-11901)ggcfs	p.G3967fs		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3967					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGCCTTCAATGCCCCCGAGCT	0.527													-	28386693	C	-	28386693	7	5	65	1	0	1	0	1	0	0	0	0	7058	739	26	0	2668	0	HERC2	15	28386693	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08		28386693	74144699	732	47558											
MTMR15	22909	broad.mit.edu	37	chr15	31202890	31202890	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaaaatccctagccaagacCttccacttggtgaatcccaa	5	14	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:31202890C>A	uc001zff.2	+	4	1740	c.1449C>A	c.(1447-1449)ACC>ACA	p.T483T	MTMR15_uc001zfc.3_Silent_p.T483T|MTMR15_uc010azw.2_Silent_p.T483T|MTMR15_uc001zfd.3_Silent_p.T483T|MTMR15_uc001zfe.2_Silent_p.T88T	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	483					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		TAGCCAAGACCTTCCACTTGG	0.433								Direct_reversal_of_damage|Editing_and_processing_nucleases					A	31202890	C	A	31202890	2	1	65	1	0	0	0	0	0	0	0	1	9943	668	24	5		5	MTMR15	15	31202890	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2816197	31202890	71328502	733	47559											
FMN1	342184	broad.mit.edu	37	chr15	33194232	33194232	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaggaatctgggctaactcAtgtaaaaatctgtaaaaaag	8	5	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:33194232A>G	uc001zhf.3	-	9	2718	c.2718T>C	c.(2716-2718)CAT>CAC	p.H906H		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	1129	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GGGCTAACTCATGTAAAAATC	0.383													G	33194232	A	G	33194232	2	3	65	1	0	0	0	0	0	0	0	1	5949	214	8	3		3	FMN1	15	33194232	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	1991342	33194232	69337160	734	47560											
RYR3	6263	broad.mit.edu	37	chr15	34030749	34030749	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagagctgcacctaacGgagaagcttttctgggggat	14	7	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:34030749G>A	uc001zhi.2	+	50	7684	c.7614G>A	c.(7612-7614)ACG>ACA	p.T2538T	RYR3_uc010bar.2_Silent_p.T2538T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2538	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGCACCTAACGGAGAAGCTTT	0.478											OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	34030749	G	A	34030749	2	1	65	1	0	0	0	0	0	0	0	1	13770	1103	39	1		1	RYR3	15	34030749	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	836517	34030749	68500643	735	47561											
IVD	3712	broad.mit.edu	37	chr15	40708280	40708280	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catccctttgtgcccagttgAtgcaggggaagatggctgac	13	10	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:40708280A>G	uc001zls.3	+	10	1307	c.973A>G	c.(973-975)ATG>GTG	p.M325V	IVD_uc001zlq.2_Missense_Mutation_p.M295V|IVD_uc001zlr.2_Missense_Mutation_p.M28V	NM_002225	NP_002216	P26440	IVD_HUMAN	isovaleryl Coenzyme A dehydrogenase isoform 1	322					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			ovary(1)	1		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		TGCCCAGTTGATGCAGGGGAA	0.532													G	40708280	A	G	40708280	3	3	65	1	0	0	0	0	1	0	0	0	7928	333	12	3	1011	3	IVD	15	40708280	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	6677531	40708280	61823112	736	47562											
CASC5	57082	broad.mit.edu	37	chr15	40912959	40912959	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatgattaccaaaggcctttTagataatcccataagtgaaa	6	7	0	3	rs7169142		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:40912959T>A	uc010bbs.1	+	11	736	c.575T>A	c.(574-576)TTA>TAA	p.L192*	CASC5_uc010ucq.1_Nonsense_Mutation_p.L16*|CASC5_uc001zme.2_Nonsense_Mutation_p.L166*|CASC5_uc010bbt.1_Nonsense_Mutation_p.L166*	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	192	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAAGGCCTTTTAGATAATCCC	0.373													A	40912959	T	A	40912959	4	1	65	1	0	0	0	0	0	1	0	0	2663	1764	61	5	613	5	CASC5	15	40912959	Nonsense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	204679	40912959	61618433	737	47563											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42138489	42138489	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcaccgatcttctgacgtgGcgtccactggcccaggccac	10	16	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:42138489G>T	uc010bco.2	+	17	1790	c.1689G>T	c.(1687-1689)TGG>TGT	p.W563C	JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.W794C|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.W794C|JMJD7-PLA2G4B_uc001zoq.3_Missense_Mutation_p.W264C|JMJD7-PLA2G4B_uc001zor.1_3'UTR	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	563	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						TTCTGACGTGGCGTCCACTGG	0.522													T	42138489	G	T	42138489	3	4	65	1	0	0	0	0	1	0	0	0	7955	1212	42	5	2468	5	JMJD7-PLA2G4B	15	42138489	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1225530	42138489	60392903	738	47564											
EHD4	30844	broad.mit.edu	37	chr15	42211660	42211660	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcgtgtccacttggtcGgccttgttcagcacgacacg	12	13	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:42211660G>A	uc001zot.2	-	4	735	c.672C>T	c.(670-672)GCC>GCT	p.A224A		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	EH-domain containing 4	224					endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			ovary(2)	2		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCACTTGGTCGGCCTTGTTCA	0.582													A	42211660	G	A	42211660	2	1	65	1	0	0	0	0	0	0	0	1	4980	1103	39	1		1	EHD4	15	42211660	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	73171	42211660	60319732	739	47565											
ZFP106	64397	broad.mit.edu	37	chr15	42743852	42743852	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactatttgaaagccaaccAcctccagaattactatggtt	5	12	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:42743852A>G	uc001zpw.2	-	2	884	c.549T>C	c.(547-549)GGT>GGC	p.G183G	ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_5'UTR|ZFP106_uc001zpy.1_Silent_p.G206G	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	183						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		AAAGCCAACCACCTCCAGAAT	0.488													G	42743852	A	G	42743852	2	3	65	1	0	0	0	0	0	0	0	1	17634	146	6	3		3	ZFP106	15	42743852	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	532192	42743852	59787540	740	47566											
MAP1A	4130	broad.mit.edu	37	chr15	43820988	43820988	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggccccagggatgtgccacTgagcctcggccccatcgtgg	15	15	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:43820988T>C	uc001zrt.2	+	4	7784	c.7317T>C	c.(7315-7317)ACT>ACC	p.T2439T		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2439						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GATGTGCCACTGAGCCTCGGC	0.652													C	43820988	T	C	43820988	2	2	65	1	0	0	0	0	0	0	0	1	9227	1567	55	3		3	MAP1A	15	43820988	Silent	SNP	T	TCGA-BR-8081-01A-11D-2340-08	1077136	43820988	58710404	741	47567											
SLC30A4	7782	broad.mit.edu	37	chr15	45803424	45803426	+	In_Frame_Del	DEL	GTC	GTC	-													gtgagtatgatggcgcttagGtcagttaacatatgaagtgc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:45803423_45803425GGTC>G	uc001zvj.3	-	2	761_763	c.449_451GACC>C	c.(448-453)gaccta>gCta	p.150_151DL>A	HMGN2P46_uc001zvk.3_Intron|HMGN2P46_uc010beg.1_Intron|HMGN2P46_uc010beh.1_Intron|HMGN2P46_uc010bei.1_Intron|HMGN2P46_uc010bej.1_Intron|HMGN2P46_uc001zvn.1_Intron|HMGN2P46_uc001zvm.1_Intron	NM_013309	NP_037441	O14863	ZNT4_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 4 (SLC30A4), mRNA.	150					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		ATGGCGCTTAGGTCAGTTAACAT	0.389													-	45803426	GTC	-	45803424	7	5	65	1	0	1	0	1	0	0	0	0	14557	1252	44	0	863	0	SLC30A4	15	45803424	In_Frame_Del	DEL	GTC	TCGA-BR-8081-01A-11D-2340-08	1982436	45803424	56727968	742	47568											
FBN1	2200	broad.mit.edu	37	chr15	48797224	48797225	+	Splice_Site	DEL	AC	AC	-													gccatgatgttttcttaccaAcacacacacggccatccaga							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:48797223_48797224AAC>A	uc001zwx.2	-	16	2355	c.1960_splice	c.e16+1	p.D654_splice		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	654			D -> N (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTTCTTACCAACACACACACG	0.49													-	48797225	AC	-	48797224	8	5	65	1	0	1	0	1	0	0	1	0	5702	43	2	0	6861	0	FBN1	15	48797224	Splice_Site	DEL	AC	TCGA-BR-8081-01A-11D-2340-08	2993800	48797224	53734168	743	47569											
TMOD3	29766	broad.mit.edu	37	chr15	52161500	52161500	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatagagagcatctcctttcAtatctggagaaagaagcatt	9	7	3	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:52161500A>T	uc002abm.2	+	3	432	c.213A>T	c.(211-213)TCA>TCT	p.S71S		NM_014547	NP_055362	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	71						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1				all cancers(107;0.00194)		ATCTCCTTTCATATCTGGAGA	0.453													T	52161500	A	T	52161500	2	4	65	1	0	0	0	0	0	0	0	1	16232	204	8	5		5	TMOD3	15	52161500	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	3364276	52161500	50369892	744	47570											
ONECUT1	3175	broad.mit.edu	37	chr15	53049924	53049924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcaattctttggatggaCgcttattttccttgaatatt	7	6	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:53049924C>T	uc002aci.1	-	2	1354	c.1226G>A	c.(1225-1227)CGT>CAT	p.R409H		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	409	Homeobox.				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)		TTTGGATGGACGCTTATTTTC	0.483													T	53049924	C	T	53049924	3	4	65	1	0	0	0	0	1	0	0	0	10868	536	19	1	175	1	ONECUT1	15	53049924	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	888424	53049924	49481468	745	47571											
ONECUT1	3175	broad.mit.edu	37	chr15	53049957	53049957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaatattgcatgtagagttCgacgctggacatctgtgaag	12	6	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:53049957C>T	uc002aci.1	-	2	1321	c.1193G>A	c.(1192-1194)CGA>CAA	p.R398Q		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	398	Homeobox.				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)		ATGTAGAGTTCGACGCTGGAC	0.463													T	53049957	C	T	53049957	3	4	65	1	0	0	0	0	1	0	0	0	10868	884	31	1	208	1	ONECUT1	15	53049957	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	33	53049957	49481435	746	47572											
PRTG	283659	broad.mit.edu	37	chr15	55912281	55912281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggactcatgagaaaaccGcccagaatccccagtctcat	8	13	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:55912281G>A	uc002adg.2	-	20	3430	c.3382C>T	c.(3382-3384)CGG>TGG	p.R1128W		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor	1128					multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGAGAAAACCGCCCAGAATCC	0.493													A	55912281	G	A	55912281	3	1	65	1	0	0	0	0	1	0	0	0	12638	1086	38	1	74	1	PRTG	15	55912281	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2862324	55912281	46619111	747	47573											
FOXB1	27023	broad.mit.edu	37	chr15	60297516	60297516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaagtccgaccacctggcGcccagcaagccagccgacgc	10	18	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:60297516G>A	uc002agj.1	+	2	833	c.354G>A	c.(352-354)GCG>GCA	p.A118A	FOXB1_uc010bgh.1_Intron	NM_012182	NP_036314	Q99853	FOXB1_HUMAN	forkhead box B1	118					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)|central_nervous_system(1)	2						ACCACCTGGCGCCCAGCAAGC	0.697													A	60297516	G	A	60297516	2	1	65	1	0	0	0	0	0	0	0	1	5992	1074	38	1		1	FOXB1	15	60297516	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	4385235	60297516	42233876	748	47574											
ANXA2	302	broad.mit.edu	37	chr15	60641281	60641281	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acctcgggcttacctggataTaatagtacagggacttgccg	11	10	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:60641281T>A	uc002agn.2	-	13	1113	c.953A>T	c.(952-954)TAT>TTT	p.Y318F	ANXA2_uc002agk.2_Missense_Mutation_p.Y318F|ANXA2_uc002agl.2_Missense_Mutation_p.Y318F|ANXA2_uc002agm.2_Missense_Mutation_p.Y336F|ANXA2_uc010uhd.1_RNA	NM_001136015	NP_001129487	P07355	ANXA2_HUMAN	annexin A2 isoform 2	318	Annexin 4.				angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	TACCTGGATATAATAGTACAG	0.532													A	60641281	T	A	60641281	3	1	65	1	0	0	0	0	1	0	0	0	718	1406	49	5	74	5	ANXA2	15	60641281	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	343765	60641281	41890111	749	47575											
VPS13C	54832	broad.mit.edu	37	chr15	62208112	62208112	+	Frame_Shift_Del	DEL	T	T	-													tgcggaaatgtccattccagTttttgccctggtatttcacc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:62208111_62208111GT>G	uc002agz.3	-	60	8257	c.8166_8166AC>C	c.(8164-8166)aacfs	p.N2722fs	VPS13C_uc002aha.3_Frame_Shift_Del_p.N2679fs|VPS13C_uc002ahb.2_Frame_Shift_Del_p.N2722fs|VPS13C_uc002ahc.2_Frame_Shift_Del_p.N2679fs|VPS13C_uc002ahd.1_Frame_Shift_Del_p.N99fs	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2722					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GTCCATTCCAGTTTTTGCCCT	0.448													-	62208112	T	-	62208112	7	5	65	1	0	1	0	1	0	0	0	0	17188	1725	60	0	3224	0	VPS13C	15	62208112	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	1566831	62208112	40323280	750	47576											
DPP8	54878	broad.mit.edu	37	chr15	65793059	65793059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caattccgactgttccaatgCgttttctttctcttaatagt	5	10	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:65793059C>T	uc002aov.2	-	4	2057	c.479G>A	c.(478-480)CGC>CAC	p.R160H	DPP8_uc002aow.2_Missense_Mutation_p.R160H|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.R144H|DPP8_uc002aoy.2_Missense_Mutation_p.R160H|DPP8_uc002aoz.2_Missense_Mutation_p.R144H|DPP8_uc010bhj.2_Missense_Mutation_p.R160H|DPP8_uc002apa.2_Missense_Mutation_p.R57H	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	dipeptidyl peptidase 8 isoform 1	160					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			ovary(1)	1						TGTTCCAATGCGTTTTCTTTC	0.393													T	65793059	C	T	65793059	3	4	65	1	0	0	0	0	1	0	0	0	4732	768	27	1	2285	1	DPP8	15	65793059	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	3584947	65793059	36738333	751	47577											
NOX5	79400	broad.mit.edu	37	chr15	69347808	69347808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcacggggctgcagacgCgcacccagcctgggcggcct	14	17	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:69347808C>T	uc002ars.1	+	15	2154	c.2134C>T	c.(2134-2136)CGC>TGC	p.R712C	NOX5_uc002arp.1_Missense_Mutation_p.R694C|NOX5_uc002arq.1_Missense_Mutation_p.R666C|NOX5_uc010bid.1_Missense_Mutation_p.R677C|NOX5_uc002arr.1_Missense_Mutation_p.R684C|NOX5_uc010bie.1_Missense_Mutation_p.R512C|NOX5_uc010bif.1_RNA	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	712	Extracellular (Potential).				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(1)|pancreas(1)	2						GCTGCAGACGCGCACCCAGCC	0.607													T	69347808	C	T	69347808	3	4	65	1	0	0	0	0	1	0	0	0	10559	768	27	1	2225	1	NOX5	15	69347808	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	3554749	69347808	33183584	752	47578											
LOXL1	4016	broad.mit.edu	37	chr15	74219771	74219771	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cggcggcgtgggcgcgggggCggcggccgtggcctcggcgg	25	13	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:74219771C>G	uc002awc.1	+	1	983	c.647C>G	c.(646-648)GCG>GGG	p.A216G	uc002awa.1_Intron|uc002awb.1_Intron	NM_005576	NP_005567	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1 preproprotein	216					protein deamination	extracellular space	copper ion binding				0						ggcgcgggggcggcggccgtg	0.473													G	74219771	C	G	74219771	3	3	65	1	0	0	0	0	1	0	0	0	8899	768	27	5	649	5	LOXL1	15	74219771	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	4871963	74219771	28311621	753	47579											
SEMA7A	8482	broad.mit.edu	37	chr15	74702973	74702973	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcgggaggccctagtggaCcagcaagccaagagtgagtg	15	11	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:74702973C>A	uc002axv.2	-	14	2033	c.1993G>T	c.(1993-1995)GTC>TTC	p.V665F	SEMA7A_uc010ulk.1_Missense_Mutation_p.V500F|SEMA7A_uc010ull.1_Missense_Mutation_p.V651F	NM_003612	NP_003603	O75326	SEM7A_HUMAN	semaphorin 7A isoform 1 preproprotein	665					axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(1)|central_nervous_system(1)	2						CCCTAGTGGACCAGCAAGCCA	0.677													A	74702973	C	A	74702973	3	1	65	1	0	0	0	0	1	0	0	0	14043	507	18	5	11	5	SEMA7A	15	74702973	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	483202	74702973	27828419	754	47580											
NEIL1	79661	broad.mit.edu	37	chr15	75644674	75644674	+	Frame_Shift_Del	DEL	C	C	-													ccccactacaggctgaagatCcccccctttgagaaggcccg					rs34322656		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:75644673_75644673TC>T	uc002bae.3	+	3	974	c.821_821TC>T	c.(820-822)atcfs	p.I274fs	NEIL1_uc002bad.3_Frame_Shift_Del_p.I188fs	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	Homo sapiens nei endonuclease VIII-like 1 (E. coli) (NEIL1), mRNA.	188					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	DNA-(apurinic or apyrimidinic site) lyase activity|damaged DNA binding|protein C-terminus binding|zinc ion binding	p.R274R(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						AGGCTGAAGATCCCCCCCTTT	0.647								Base excision repair (BER), DNA glycosylases					-	75644674	C	-	75644674	7	5	65	1	0	1	0	1	0	0	0	0	10318	845	30	0	574	0	NEIL1	15	75644674	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	941701	75644674	26886718	755	47581											
KIAA1199	57214	broad.mit.edu	37	chr15	81229194	81229194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaccagacggcccccgcCgaactcgccatctggctcat	11	17	2	1	rs79713495	by1000genomes	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:81229194C>T	uc002bfw.1	+	23	3449	c.3189C>T	c.(3187-3189)GCC>GCT	p.A1063A	KIAA1199_uc010unn.1_Silent_p.A1063A	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	1063										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						CGGCCCCCGCCGAACTCGCCA	0.582													T	81229194	C	T	81229194	2	4	65	1	0	0	0	0	0	0	0	1	8213	639	23	1		1	KIAA1199	15	81229194	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	5584520	81229194	21302198	756	47582											
IL16	3603	broad.mit.edu	37	chr15	81598461	81598462	+	Frame_Shift_Del	DEL	CT	CT	-													gacctcaactcctccactgaCtctgcagcctcagcctctgc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:81598460_81598461ACT>A	uc021ssh.1	+	15	3733_3734	c.3632_3633ACT>A	c.(3631-3633)gacfs	p.D1211fs	IL16_uc010blq.1_Frame_Shift_Del_p.D1165fs|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Frame_Shift_Del_p.D1253fs|IL16_uc002bgg.3_Frame_Shift_Del_p.D1211fs|IL16_uc002bgi.1_Frame_Shift_Del_p.D601fs|IL16_uc002bgj.3_Frame_Shift_Del_p.D705fs|IL16_uc021ssi.1_Frame_Shift_Del_p.D510fs|IL16_uc002bgl.1_Frame_Shift_Del_p.D510fs|IL16_uc010unq.1_Frame_Shift_Del_p.D510fs	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	1211					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCCTCCACTGACTCTGCAGCCT	0.559													-	81598462	CT	-	81598461	7	5	65	1	0	1	0	1	0	0	0	0	7633	564	20	0	3695	0	IL16	15	81598461	Frame_Shift_Del	DEL	CT	TCGA-BR-8081-01A-11D-2340-08	369267	81598461	20932931	757	47583											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84651707	84651707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagtcagctcatggaaacCggagaggtcagcgatgatct	13	8	4	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:84651707C>T	uc002bjz.3	+	21	3551	c.3327C>T	c.(3325-3327)ACC>ACT	p.T1109T	ADAMTSL3_uc010bmt.1_Silent_p.T1109T|ADAMTSL3_uc010bmu.1_Silent_p.T1109T	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1109						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCATGGAAACCGGAGAGGTCA	0.498													T	84651707	C	T	84651707	2	4	65	1	0	0	0	0	0	0	0	1	276	639	23	1		1	ADAMTSL3	15	84651707	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	3053246	84651707	17879685	758	47584											
POLG	5428	broad.mit.edu	37	chr15	89864210	89864210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcccctgctcttcctgCcctgcagtgtcatccaccca	7	19	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:89864210C>T	uc002bns.3	-	18	3050	c.2768G>A	c.(2767-2769)GGC>GAC	p.G923D	POLG_uc002bnr.3_Missense_Mutation_p.G923D	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	923			G -> D (in PEOA1).		base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GCTCTTCCTGCCCTGCAGTGT	0.527								DNA_polymerases_(catalytic_subunits)					T	89864210	C	T	89864210	3	4	65	1	0	0	0	0	1	0	0	0	12200	739	26	2	975	2	POLG	15	89864210	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	5212503	89864210	12667182	759	47585											
C15orf42	90381	broad.mit.edu	37	chr15	90168411	90168411	+	Frame_Shift_Del	DEL	C	C	-													ctgaacccacctatgtgtcaCccccctgcccccgcctctcc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:90168410_90168410AC>A	uc002boe.3	+	19	4869	c.4869_4869AC>A	c.(4867-4869)tcafs	p.S1623fs	C15orf42_uc021sug.1_Frame_Shift_Del_p.S1622fs	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1623					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	p.S1623S(2)		NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCTATGTGTCACCCCCCTGCC	0.627													-	90168411	C	-	90168411	7	5	65	1	0	1	0	1	0	0	0	0	1796	507	18	0	4948	0	C15orf42	15	90168411	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	304201	90168411	12362981	760	47586											
KIF7	374654	broad.mit.edu	37	chr15	90171812	90171812	+	Frame_Shift_Del	DEL	G	G	-													tcccgctgcctcagttcctcGggggacccctgctcctcacc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:90171811_90171811CG>C	uc002bof.2	-	18	3948	c.3871_3871CG>G	c.(3871-3873)gagfs	p.E1291fs	KIF7_uc010upw.1_Frame_Shift_Del_p.E777fs	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	1291					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTCAGTTCCTCGGGGGACCCC	0.692													-	90171812	G	-	90171812	7	5	65	1	0	1	0	1	0	0	0	0	8309	1103	39	0	165	0	KIF7	15	90171812	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	3401	90171812	12359580	761	47587											
FES	2242	broad.mit.edu	37	chr15	91432867	91432867	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggagagcgtgcagcacacGtgggtggtggctttgcacct	17	9	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:91432867G>A	uc002bpv.2	+	7	1022	c.926_splice	c.e7+1	p.T309_splice	FES_uc010uqj.1_Splice_Site_p.T251_splice|FES_uc010uqk.1_Splice_Site_p.T291_splice|FES_uc002bpw.2_Splice_Site|FES_uc010bny.2_Splice_Site_p.T251_splice|FES_uc002bpx.2_Splice_Site_p.T309_splice|FES_uc002bpy.2_Splice_Site_p.T251_splice	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1						axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGCAGCACACGTGGGTGGTGG	0.622													A	91432867	G	A	91432867	5	1	65	1	0	0	0	0	0	0	1	0	5820	1159	40	1	949	1	FES	15	91432867	Splice_Site	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1261055	91432867	11098525	762	47588											
ARHGDIG	398	broad.mit.edu	37	chr16	332056	332056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaatgtgcaggtgaccagGctgacactcctgtcggaaca	11	13	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:332056G>A	uc002cgm.1	+	3	360	c.285G>A	c.(283-285)AGG>AGA	p.R95R	PDIA2_uc002cgn.1_5'UTR|PDIA2_uc010bqt.1_5'Flank|PDIA2_uc002cgo.1_5'Flank	NM_001176	NP_001167	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	95					negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			central_nervous_system(1)	1		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				AGGTGACCAGGCTGACACTCC	0.642													A	332056	G	A	332056	2	1	65	1	0	0	0	0	0	0	0	1	892	1194	42	2		2	ARHGDIG	16	332056	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08		332056	90022697	763	47589											
WFIKKN1	117166	broad.mit.edu	37	chr16	682785	682785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgtgagaaggagcccagCttcacctgcgcctcggacgg	14	14	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:682785C>T	uc002cht.1	+	2	617	c.375C>T	c.(373-375)AGC>AGT	p.S125S	WFIKKN1_uc002chs.1_3'UTR	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz	125	Kazal-like.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity				0		Hepatocellular(780;0.00335)				AGGAGCCCAGCTTCACCTGCG	0.682													T	682785	C	T	682785	2	4	65	1	0	0	0	0	0	0	0	1	17355	796	28	2		2	WFIKKN1	16	682785	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	350729	682785	89671968	764	47590											
METRN	79006	broad.mit.edu	37	chr16	767217	767218	+	Frame_Shift_Ins	INS	-	-	C													ggggctgacctccattcgtaINSccccactgcgctgtggcgtc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:767217_767218insC	uc002cjd.2	+	4	829_830	c.712_713insC	c.(712-714)ACCfs	p.T238fs	uc010bra.1_5'Flank	NM_024042	NP_076947	Q9UJH8	METRN_HUMAN	meteorin, glial cell differentiation regulator	238											0		Hepatocellular(780;0.00335)				CTCCATTCGTACCCCACTGCGC	0.698													C	767218	-	C	767217	7	5	65	1	0	1	1	0	0	0	0	0	9488	391	14	0	726	0	METRN	16	767217	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	84432	767217	89587536	765	47591											
MSLN	10232	broad.mit.edu	37	chr16	814677	814677	+	Frame_Shift_Del	DEL	C	C	-													tggctcaccggctctctgagCcccccgaggacctggacgcc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:814676_814676GC>G	uc002cjw.2	+	5	441	c.330_330GC>G	c.(328-330)gagfs	p.E110fs	MSLN_uc002cju.1_Frame_Shift_Del_p.E110fs|MSLN_uc002cjt.1_Frame_Shift_Del_p.E110fs|MSLN_uc010brd.1_Frame_Shift_Del_p.E109fs|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	110					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GGCTCTCTGAGCCCCCCGAGG	0.687													-	814677	C	-	814677	7	5	65	1	0	1	0	1	0	0	0	0	9881	739	26	0	349	0	MSLN	16	814677	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	47460	814677	89540076	766	47592											
CACNA1H	8912	broad.mit.edu	37	chr16	1257285	1257285	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcccccagatcctgacccAggaggactggaacgtggtcc	11	14	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:1257285A>G	uc002cks.2	+	14	3166	c.2918A>G	c.(2917-2919)CAG>CGG	p.Q973R	CACNA1H_uc002ckt.2_Missense_Mutation_p.Q973R|CACNA1H_uc002cku.2_5'Flank|CACNA1H_uc010brj.2_5'Flank|CACNA1H_uc002ckv.2_5'Flank	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	973	II.|Extracellular (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ATCCTGACCCAGGAGGACTGG	0.642													G	1257285	A	G	1257285	3	3	65	1	0	0	0	0	1	0	0	0	2545	188	7	3	2968	3	CACNA1H	16	1257285	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	442608	1257285	89097468	767	47593											
IFT140	9742	broad.mit.edu	37	chr16	1616233	1616233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtcttgaagtcaaagacGgtcactgtgtccatttcaac	8	11	4	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:1616233G>A	uc002cmb.2	-	16	2192	c.1830C>T	c.(1828-1830)ACC>ACT	p.T610T	IFT140_uc002clz.2_Silent_p.T261T	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	610										ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)				AGTCAAAGACGGTCACTGTGT	0.448													A	1616233	G	A	1616233	2	1	65	1	0	0	0	0	0	0	0	1	7556	1103	39	1		1	IFT140	16	1616233	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	358948	1616233	88738520	768	47594											
IGFALS	3483	broad.mit.edu	37	chr16	1841073	1841073	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggaagaggcggtggggcAggtgcgtgagctggttggag	22	6	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:1841073A>G	uc002cmy.2	-	2	1427	c.1346T>C	c.(1345-1347)CTG>CCG	p.L449P	IGFALS_uc010uvn.1_Missense_Mutation_p.L487P|IGFALS_uc010uvo.1_Missense_Mutation_p.L83P	NM_004970	NP_004961	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid	449	LRR 16.				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding				0						GCGGTGGGGCAGGTGCGTGAG	0.692													G	1841073	A	G	1841073	3	3	65	1	0	0	0	0	1	0	0	0	7577	188	7	3	475	3	IGFALS	16	1841073	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	224840	1841073	88513680	769	47595											
NTHL1	4913	broad.mit.edu	37	chr16	2090230	2090230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgattctgtgcacatgcGtgtccactgctgctgggagg	15	10	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:2090230G>A	uc002col.1	-	5	738	c.719C>T	c.(718-720)ACG>ATG	p.T240M	NTHL1_uc002com.1_Missense_Mutation_p.T241M	NM_002528	NP_002519	P78549	NTHL1_HUMAN	nth endonuclease III-like 1	240					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						GTGCACATGCGTGTCCACTGC	0.667								BER_DNA_glycosylases					A	2090230	G	A	2090230	3	1	65	1	0	0	0	0	1	0	0	0	10698	1145	40	1	227	1	NTHL1	16	2090230	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	249157	2090230	88264523	770	47596											
TSC2	7249	broad.mit.edu	37	chr16	2124276	2124276	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcgtggccttgtccatcTgcagcgtggagatgcctgac	14	12	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:2124276T>C	uc002con.2	+	22	2537	c.2431T>C	c.(2431-2433)TGC>CGC	p.C811R	TSC2_uc010bsd.2_Missense_Mutation_p.C811R|TSC2_uc002coo.2_Missense_Mutation_p.C811R|TSC2_uc010uvv.1_Missense_Mutation_p.C774R|TSC2_uc010uvw.1_Missense_Mutation_p.C762R|TSC2_uc002cop.2_Missense_Mutation_p.C611R	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	811					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				CTTGTCCATCTGCAGCGTGGA	0.622			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				C	2124276	T	C	2124276	3	2	65	1	0	0	0	0	1	0	0	0	16603	1580	55	3	2513	3	TSC2	16	2124276	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	34046	2124276	88230477	771	47597											
PKD1	5310	broad.mit.edu	37	chr16	2159842	2159842	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtcatggtgaccaagtgcaGgccgggtgtggggaagctat	17	8	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:2159842G>T	uc002cos.1	-	15	5535	c.5326C>A	c.(5326-5328)CTG>ATG	p.L1776M	PKD1_uc002cot.1_Missense_Mutation_p.L1776M	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1776	PKD 13.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						ACCAAGTGCAGGCCGGGTGTG	0.632													T	2159842	G	T	2159842	3	4	65	1	0	0	0	0	1	0	0	0	11963	991	35	5	7713	5	PKD1	16	2159842	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	35566	2159842	88194911	772	47598											
PKD1	5310	broad.mit.edu	37	chr16	2162823	2162823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggccgagtccaccagcaCgcccgccgtcagtgctagcg	12	18	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:2162823C>T	uc002cos.1	-	13	3336	c.3127G>A	c.(3127-3129)GTG>ATG	p.V1043M	PKD1_uc002cot.1_Missense_Mutation_p.V1043M	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1043	PKD 5.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						TCCACCAGCACGCCCGCCGTC	0.672													T	2162823	C	T	2162823	3	4	65	1	0	0	0	0	1	0	0	0	11963	536	19	1	9920	1	PKD1	16	2162823	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2981	2162823	88191930	773	47599											
E4F1	1877	broad.mit.edu	37	chr16	2285285	2285285	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcgccggccaccagatcatCgtgcagaacgtcaccatgga	11	14	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:2285285C>T	uc002cpm.2	+	14	2115	c.2067C>T	c.(2065-2067)ATC>ATT	p.I689I	E4F1_uc010bsi.2_3'UTR|E4F1_uc010bsj.2_Silent_p.I512I|DNASE1L2_uc002cpn.2_5'Flank|DNASE1L2_uc002cpo.2_5'Flank|DNASE1L2_uc002cpp.2_5'Flank|DNASE1L2_uc002cpq.2_5'Flank	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	p120E4F	689					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						ACCAGATCATCGTGCAGAACG	0.662													T	2285285	C	T	2285285	2	4	65	1	0	0	0	0	0	0	0	1	4874	874	31	1		1	E4F1	16	2285285	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	122462	2285285	88069468	774	47600											
ZNF205	7755	broad.mit.edu	37	chr16	3170202	3170202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtgcggcaagagcttcaGccggcgctccaacctgcacc	12	15	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:3170202G>A	uc002cub.2	+	7	1676	c.1541G>A	c.(1540-1542)AGC>AAC	p.S514N	ZNF205_uc002cua.2_Missense_Mutation_p.S514N	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	514	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						AAGAGCTTCAGCCGGCGCTCC	0.617													A	3170202	G	A	3170202	3	1	65	1	0	0	0	0	1	0	0	0	17761	971	34	2	1563	2	ZNF205	16	3170202	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	884917	3170202	87184551	775	47601											
TRAP1	10131	broad.mit.edu	37	chr16	3740886	3740886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcctccttgtcctcggcGgtctgcgtgctgaacagtcg	13	13	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:3740886G>A	uc002cvt.3	-	2	278	c.189C>T	c.(187-189)ACC>ACT	p.T63T	TRAP1_uc010uxf.1_Intron	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	63					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)				TGTCCTCGGCGGTCTGCGTGC	0.597											OREG0023572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	3740886	G	A	3740886	2	1	65	1	0	0	0	0	0	0	0	1	16452	1103	39	1		1	TRAP1	16	3740886	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	570684	3740886	86613867	776	47602											
CREBBP	1387	broad.mit.edu	37	chr16	3823777	3823777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacgcctgtttgggctggcGgctgccccatgcccacactc	11	17	0	0	rs150767375		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:3823777G>A	uc002cvv.2	-	13	2642	c.2438C>T	c.(2437-2439)CCG>CTG	p.P813L	CREBBP_uc002cvw.2_Missense_Mutation_p.P775L	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	813					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGGGCTGGCGGCTGCCCCAT	0.552			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				A	3823777	G	A	3823777	3	1	65	1	0	0	0	0	1	0	0	0	3861	1116	39	1	4966	1	CREBBP	16	3823777	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	82891	3823777	86530976	777	47603											
CREBBP	1387	broad.mit.edu	37	chr16	3824616	3824617	+	Frame_Shift_Ins	INS	-	-	G													ctggacagagtggttcattgINSgggaggctgcacgaggtccc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:3824615_3824616T>TG	uc002cvv.3	-	11	2441_2442	c.2237_2238A>CA	c.(2236-2238)ccafs	p.P746fs	CREBBP_uc002cvw.3_Frame_Shift_Ins_p.P708fs	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	746					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGTGGTTCATTGGGGAGGCTGC	0.53			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						G	3824617	-	G	3824616	7	5	65	1	0	1	1	0	0	0	0	0	3861	1348	47	0	5171	0	CREBBP	16	3824616	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	839	3824616	86530137	778	47604											
MKL2	57496	broad.mit.edu	37	chr16	14341277	14341277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaggctttactgaccacGcagactgctcagctgctgct	9	16	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:14341277G>A	uc010uza.1	+	12	2315	c.2160G>A	c.(2158-2160)ACG>ACA	p.T720T	MKL2_uc002dcg.2_Intron|MKL2_uc002dcj.2_5'UTR	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	709	Gln-rich.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5						TACTGACCACGCAGACTGCTC	0.587													A	14341277	G	A	14341277	2	1	65	1	0	0	0	0	0	0	0	1	9602	1102	38	1		1	MKL2	16	14341277	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	10516661	14341277	76013476	779	47605											
NOMO1	23420	broad.mit.edu	37	chr16	14932348	14932348	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actttatgatccctttgtatGataaggtaagaggggactgc	11	6	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:14932348G>T	uc002dcv.2	+	2	316	c.250G>T	c.(250-252)GAT>TAT	p.D84Y		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	84	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1						CCCTTTGTATGATAAGGTAAG	0.443													T	14932348	G	T	14932348	3	4	65	1	0	0	0	0	1	0	0	0	10531	1290	45	5	256	5	NOMO1	16	14932348	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	591071	14932348	75422405	780	47606											
C16orf88	400506	broad.mit.edu	37	chr16	19725713	19725713	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctggtggatttttttTttcttcttcaccttcccatt	4	13	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:19725713T>C	uc002dgq.2	-	2	660	c.645A>G	c.(643-645)AAA>AAG	p.K215K	IQCK_uc002dgr.2_5'Flank|IQCK_uc002dgs.2_5'Flank	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	hypothetical protein LOC400506	215	Lys-rich.					nucleolus					0						GGATTTTTTTTTTCTTCTTCA	0.537													C	19725713	T	C	19725713	2	2	65	1	0	0	0	0	0	0	0	1	1841	1838	64	3		3	C16orf88	16	19725713	Silent	SNP	T	TCGA-BR-8081-01A-11D-2340-08	4793365	19725713	70629040	781	47607											
ACSM2B	348158	broad.mit.edu	37	chr16	20548586	20548586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcctagacgcctcactgCgcacgggcttttccggacat	10	15	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:20548586C>T	uc002dhj.3	-	15	1938	c.1728G>A	c.(1726-1728)GCG>GCA	p.A576A	ACSM2B_uc002dhk.3_Silent_p.A576A	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	576					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5						CGCCTCACTGCGCACGGGCTT	0.458													T	20548586	C	T	20548586	2	4	65	1	0	0	0	0	0	0	0	1	184	755	27	1		1	ACSM2B	16	20548586	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	822873	20548586	69806167	782	47608											
ZP2	7783	broad.mit.edu	37	chr16	21222918	21222918	+	Frame_Shift_Del	DEL	T	T	-													agagggtaggctgctctgtgTttttatagcaggaagccagc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:21222917_21222917GT>G	uc010bwn.1	-	0	151	c.69_69AC>C	c.(67-69)aacfs	p.N23fs	ZP2_uc002dii.2_5'UTR|ZP2_uc010bwo.3_Frame_Shift_Del_p.N23fs	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	0					binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GCTGCTCTGTGTTTTTATAGC	0.557													-	21222918	T	-	21222918	7	5	65	1	0	1	0	1	0	0	0	0	18213	1740	60	0		0	ZP2	16	21222918	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	674332	21222918	69131835	783	47609											
CRYM	1428	broad.mit.edu	37	chr16	21278978	21278978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccacagcctcctggacCgaagaacagacccgtacctc	8	18	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:21278978C>T	uc002dik.2	-	5	655	c.570G>A	c.(568-570)TCG>TCA	p.S190S	CRYM_uc010bwq.1_RNA|CRYM_uc002dil.2_Silent_p.S148S|CRYM_uc002dim.2_Silent_p.S190S	NM_001888	NP_001879	Q14894	CRYM_HUMAN	crystallin, mu isoform 1	190					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity				0				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	CCTCCTGGACCGAAGAACAGA	0.512													T	21278978	C	T	21278978	2	4	65	1	0	0	0	0	0	0	0	1	3921	639	23	1		1	CRYM	16	21278978	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	56060	21278978	69075775	784	47610											
GGA2	23062	broad.mit.edu	37	chr16	23505687	23505687	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgggccagtagccagggCgcatgtgtggggctacaggg	19	8	0	0	rs150275766	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:23505687C>T	uc002dlq.2	-	3	265	c.189G>A	c.(187-189)GCG>GCA	p.A63A	GGA2_uc010bxo.1_RNA	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	ADP-ribosylation factor binding protein 2	63	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.0386)		GTAGCCAGGGCGCATGTGTGG	0.502													T	23505687	C	T	23505687	2	4	65	1	0	0	0	0	0	0	0	1	6353	755	27	1		1	GGA2	16	23505687	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2226709	23505687	66849066	785	47611											
EARS2	124454	broad.mit.edu	37	chr16	23544081	23544081	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcagggtcctgcccatttGgttctctgcaaagaagagag	13	10	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:23544081G>T	uc002dlt.3	-	5	996	c.964C>A	c.(964-966)CAA>AAA	p.Q322K	EARS2_uc002dlr.3_RNA|EARS2_uc002dls.3_RNA|EARS2_uc002dlu.2_Missense_Mutation_p.Q322K	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2 precursor	322					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding				0				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	CTGCCCATTTGGTTCTCTGCA	0.453													T	23544081	G	T	23544081	3	4	65	1	0	0	0	0	1	0	0	0	4878	1357	47	5	627	5	EARS2	16	23544081	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	38394	23544081	66810672	786	47612											
PALB2	79728	broad.mit.edu	37	chr16	23647028	23647028	+	Frame_Shift_Del	DEL	T	T	-													caggtgaagtaaatctaatgTtttttaggtcgtgagtagta							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:23647027_23647027GT>G	uc002dlx.1	-	3	1040	c.840_840AC>C	c.(838-840)aacfs	p.N280fs		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	280	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.K279K(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TAAATCTAATGTTTTTTAGGT	0.393			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					-	23647028	T	-	23647028	7	5	65	1	0	1	0	1	0	0	0	0	11406	1725	60	0	2761	0	PALB2	16	23647028	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	102947	23647028	66707725	787	47613											
ARHGAP17	55114	broad.mit.edu	37	chr16	24942188	24942188	+	Frame_Shift_Del	DEL	G	G	-													caccaggaggttgggggggtGggggcacgctgggccggttc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:24942187_24942187TG>T	uc002dnb.3	-	18	2526	c.2433_2433CA>A	c.(2431-2433)ccafs	p.P811fs	ARHGAP17_uc002dmw.3_Frame_Shift_Del_p.P73fs|ARHGAP17_uc002dmy.3_Frame_Shift_Del_p.P256fs|ARHGAP17_uc002dmz.3_Frame_Shift_Del_p.P335fs|ARHGAP17_uc002dna.3_Frame_Shift_Del_p.P538fs|ARHGAP17_uc002dnc.3_Frame_Shift_Del_p.P733fs|ARHGAP17_uc010vcf.2_Frame_Shift_Del_p.P554fs	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	811	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GTTGGGGGGGTGGGGGCACGC	0.587													-	24942188	G	-	24942188	7	5	65	1	0	1	0	1	0	0	0	0	867	1348	47	0	221	0	ARHGAP17	16	24942188	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	1295160	24942188	65412565	788	47614											
ARHGAP17	55114	broad.mit.edu	37	chr16	24950837	24950837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgggcggaagtggcggCtggaaagcgggggatatgtg	21	5	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:24950837C>T	uc002dnb.2	-	17	1665	c.1572G>A	c.(1570-1572)CAG>CAA	p.Q524Q	ARHGAP17_uc002dmy.2_5'Flank|ARHGAP17_uc002dmz.2_Silent_p.Q48Q|ARHGAP17_uc002dna.2_Silent_p.Q251Q|ARHGAP17_uc002dnc.2_Intron|ARHGAP17_uc010vcf.1_Intron	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	524	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		GAAGTGGCGGCTGGAAAGCGG	0.612													T	24950837	C	T	24950837	2	4	65	1	0	0	0	0	0	0	0	1	867	796	28	2		2	ARHGAP17	16	24950837	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	8649	24950837	65403916	789	47615											
GTF3C1	2975	broad.mit.edu	37	chr16	27497443	27497443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggcttcatcatggtagcGcagccttttgcttttttctc	9	11	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:27497443G>A	uc002dov.1	-	24	3773	c.3733C>T	c.(3733-3735)CGC>TGC	p.R1245C	GTF3C1_uc002dou.2_Missense_Mutation_p.R1245C	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1245						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						TCATGGTAGCGCAGCCTTTTG	0.562													A	27497443	G	A	27497443	3	1	65	1	0	0	0	0	1	0	0	0	6872	1087	38	1	2652	1	GTF3C1	16	27497443	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2546606	27497443	62857310	790	47616											
ZNF48	197407	broad.mit.edu	37	chr16	30409299	30409299	+	Frame_Shift_Del	DEL	G	G	-													caagcaccagcggacacaccGgggggagcagcccccccgac							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:30409298_30409298CG>C	uc002dya.2	+	1	1103	c.727_727CG>C	c.(727-729)cggfs	p.R243fs	ZNF48_uc021tgi.1_Frame_Shift_Del_p.R243fs|ZNF48_uc021tgj.1_Frame_Shift_Del_p.R120fs|ZNF48_uc021tgk.1_Frame_Shift_Del_p.R243fs	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R243W(2)|p.R243L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GCGGACACACCGGGGGGAGCA	0.647													-	30409299	G	-	30409299	7	5	65	1	0	1	0	1	0	0	0	0	17931	1116	39	0	734	0	ZNF48	16	30409299	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	2911856	30409299	59945454	791	47617											
ZNF48	197407	broad.mit.edu	37	chr16	30410362	30410362	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggcacctggtcctgacGccctttgggataggggatgg	17	10	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:30410362G>A	uc002dya.1	+	2	1850	c.1791G>A	c.(1789-1791)ACG>ACA	p.T597T	ZNF48_uc002dxz.1_Silent_p.T474T	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGGTCCTGACGCCCTTTGGGA	0.622													A	30410362	G	A	30410362	2	1	65	1	0	0	0	0	0	0	0	1	17931	1074	38	1		1	ZNF48	16	30410362	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1063	30410362	59944391	792	47618											
FBRS	64319	broad.mit.edu	37	chr16	30680911	30680911	+	Frame_Shift_Del	DEL	C	C	-													accacctccgcttgtgcccgCcccccggcccagttccccac							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:30680910_30680910GC>G	uc002dzd.4	+	11	1590	c.1327_1327GC>G	c.(1327-1329)gccfs	p.A443fs	FBRS_uc002dzc.4_Frame_Shift_Del_p.A355fs	NM_001105079	NP_001098549	Q9HAH7	FBRS_HUMAN	Homo sapiens fibrosin (FBRS), mRNA.	443										ovary(1)	1			Colorectal(24;0.103)			GCTTGTGCCCGCCCCCCGGCC	0.716													-	30680911	C	-	30680911	7	5	65	1	0	1	0	1	0	0	0	0	5707	739	26	0	1370	0	FBRS	16	30680911	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	270549	30680911	59673842	793	47619											
SRCAP	10847	broad.mit.edu	37	chr16	30745021	30745022	+	Frame_Shift_Del	DEL	TG	TG	-													aacctgacaggagcagacacTgttgttttttatgacagcga							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:30745020_30745021CTG>C	uc002dze.1	+	28	6780_6781	c.6395_6396CTG>C	c.(6394-6396)actfs	p.T2132fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Del_p.T1927fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2132	Helicase C-terminal.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.D2131N(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGAGCAGACACTGTTGTTTTTT	0.525													-	30745022	TG	-	30745021	7	5	65	1	0	1	0	1	0	0	0	0	15134	1567	55	0	6502	0	SRCAP	16	30745021	Frame_Shift_Del	DEL	TG	TCGA-BR-8081-01A-11D-2340-08	64110	30745021	59609732	794	47620											
C16orf93	90835	broad.mit.edu	37	chr16	30768881	30768881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgctgagcctttcctcGctggccttgagccgctcctc	10	16	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:30768881G>A	uc002dzm.2	-	9	1243	c.912C>T	c.(910-912)AGC>AGT	p.S304S	C16orf93_uc002dzn.2_Silent_p.S369S|C16orf93_uc002dzo.2_Silent_p.S267S	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN	hypothetical protein LOC90835	304	Potential.										0						GCCTTTCCTCGCTGGCCTTGA	0.592													A	30768881	G	A	30768881	2	1	65	1	0	0	0	0	0	0	0	1	1846	1078	38	1		1	C16orf93	16	30768881	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	23860	30768881	59585872	795	47621											
ZNF629	23361	broad.mit.edu	37	chr16	30794106	30794106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcccgcagtcggagcacaCgaacaggttctcgtccatgt	10	14	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:30794106C>T	uc002dzs.1	-	3	1751	c.1543G>A	c.(1543-1545)GTG>ATG	p.V515M		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	515	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			TCGGAGCACACGAACAGGTTC	0.642													T	30794106	C	T	30794106	3	4	65	1	0	0	0	0	1	0	0	0	18050	536	19	1	1070	1	ZNF629	16	30794106	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	25225	30794106	59560647	796	47622											
SETD1A	9739	broad.mit.edu	37	chr16	30982826	30982826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctcctcctcctcctcGtcctcatcctcctcgtcctc	2	23	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:30982826G>A	uc002ead.1	+	13	3830	c.3144G>A	c.(3142-3144)TCG>TCA	p.S1048S		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1048	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						cctcctcctcgtcctcatcct	0.418													A	30982826	G	A	30982826	2	1	65	1	0	0	0	0	0	0	0	1	14130	1132	40	1		1	SETD1A	16	30982826	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	188720	30982826	59371927	797	47623											
ZNF668	79759	broad.mit.edu	37	chr16	31072732	31072732	+	Frame_Shift_Del	DEL	C	C	-													gcttctcgtcagcctcctcaCcccccgcctcgcctgcccct							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:31072731_31072731AC>A	uc021tgt.1	-	3	1943	c.1587_1587GT>T	c.(1585-1587)ggtfs	p.G529fs	ZNF668_uc010cag.2_Frame_Shift_Del_p.G506fs|ZNF668_uc010caf.3_Frame_Shift_Del_p.G506fs|ZNF668_uc002eao.3_Frame_Shift_Del_p.G506fs	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CAGCCTCCTCACCCCCCGCCT	0.652													-	31072732	C	-	31072732	7	5	65	1	0	1	0	1	0	0	0	0	18072	507	18	0	346	0	ZNF668	16	31072732	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	89906	31072732	59282021	798	47624											
ZNF423	23090	broad.mit.edu	37	chr16	49764857	49764857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacggctggttttctgatcGcactctggctctccttctag	10	13	4	1	rs139517505		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:49764857G>A	uc002efs.2	-	4	400	c.102C>T	c.(100-102)TGC>TGT	p.C34C		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	34					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				TTTTCTGATCGCACTCTGGCT	0.493													A	49764857	G	A	49764857	2	1	65	1	0	0	0	0	0	0	0	1	17895	1079	38	1		1	ZNF423	16	49764857	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	18692125	49764857	40589896	799	47625											
CYLD	1540	broad.mit.edu	37	chr16	50813710	50813710	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttaccattcagtctcaccAagatgcccaataccaatgga	5	13	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:50813710A>G	uc002egp.1	+	9	1688	c.1273A>G	c.(1273-1275)AAG>GAG	p.K425E	CYLD_uc002ego.2_Missense_Mutation_p.K422E|CYLD_uc010cbs.1_Missense_Mutation_p.K422E|CYLD_uc002egq.1_Missense_Mutation_p.K422E|CYLD_uc002egr.1_Missense_Mutation_p.K422E|CYLD_uc002egs.1_Missense_Mutation_p.K422E	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	425	Interaction with TRAF2.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				CAGTCTCACCAAGATGCCCAA	0.498			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial				G	50813710	A	G	50813710	3	3	65	1	0	0	0	0	1	0	0	0	4143	131	5	3	1299	3	CYLD	16	50813710	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	1048853	50813710	39541043	800	47626											
CHD9	80205	broad.mit.edu	37	chr16	53276823	53276823	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgattcttggaggctgTggagagcttaatgcaattga	13	4	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:53276823T>A	uc002ehb.2	+	12	3113	c.2949T>A	c.(2947-2949)TGT>TGA	p.C983*	CHD9_uc002egy.2_Nonsense_Mutation_p.C983*|CHD9_uc002eha.1_Nonsense_Mutation_p.C983*|CHD9_uc002ehc.2_Nonsense_Mutation_p.C983*|CHD9_uc002ehf.2_Nonsense_Mutation_p.C97*|CHD9_uc002ehd.2_Nonsense_Mutation_p.C509*|CHD9_uc002ehe.1_Nonsense_Mutation_p.C97*	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	983	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				TTGGAGGCTGTGGAGAGCTTA	0.368													A	53276823	T	A	53276823	4	1	65	1	0	0	0	0	0	1	0	0	3332	1702	59	5	2995	5	CHD9	16	53276823	Nonsense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	2463113	53276823	37077930	801	47627											
NUDT21	11051	broad.mit.edu	37	chr16	56485037	56485037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtgaggggcttcgtctgCtggatgtacttgttgccgaa	16	7	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:56485037C>T	uc002eja.2	-	1	225	c.78G>A	c.(76-78)CAG>CAA	p.Q26Q	OGFOD1_uc002ejb.2_5'Flank|OGFOD1_uc002ejc.2_5'Flank	NM_007006	NP_008937	O43809	CPSF5_HUMAN	cleavage and polyadenylation specific factor 5	26	Necessary for RNA-binding.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity				0						GCTTCGTCTGCTGGATGTACT	0.637													T	56485037	C	T	56485037	2	4	65	1	0	0	0	0	0	0	0	1	10738	796	28	2		2	NUDT21	16	56485037	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	3208214	56485037	33869716	802	47628											
NUP93	9688	broad.mit.edu	37	chr16	56864565	56864565	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggagagtttaaaacctgGttccaggagtacatgaacag	12	7	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:56864565G>A	uc002eka.2	+	10	1174	c.1053G>A	c.(1051-1053)TGG>TGA	p.W351*	NUP93_uc002ekb.2_Nonsense_Mutation_p.W228*|NUP93_uc010vhi.1_Nonsense_Mutation_p.W228*	NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	351					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(1)|lung(1)	2						TTAAAACCTGGTTCCAGGAGT	0.532													A	56864565	G	A	56864565	4	1	65	1	0	0	0	0	0	1	0	0	10772	1270	44	4	1087	4	NUP93	16	56864565	Nonsense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	379528	56864565	33490188	803	47629											
SLC12A3	6559	broad.mit.edu	37	chr16	56906652	56906652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttctccatcttcttcccctCggccacaggcatcctggcag	8	17	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:56906652C>T	uc010ccm.2	+	8	1078	c.1049C>T	c.(1048-1050)TCG>TTG	p.S350L	SLC12A3_uc002ekd.3_Missense_Mutation_p.S350L|SLC12A3_uc010ccn.2_Missense_Mutation_p.S349L	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	350	Helical; (Potential).				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTCTTCCCCTCGGCCACAGGC	0.572													T	56906652	C	T	56906652	3	4	65	1	0	0	0	0	1	0	0	0	14384	893	31	1	1079	1	SLC12A3	16	56906652	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	42087	56906652	33448101	804	47630											
CCL22	6367	broad.mit.edu	37	chr16	57394460	57394460	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacctcagactcctgcccgaGgcctggcgtggtgtgagtag	15	12	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:57394460G>T	uc002elh.2	+	2	196	c.185G>T	c.(184-186)AGG>ATG	p.R62M		NM_002990	NP_002981	O00626	CCL22_HUMAN	small inducible cytokine A22 precursor	62					cell-cell signaling|chemotaxis|immune response|inflammatory response|response to virus|signal transduction	extracellular space	chemokine activity				0						TCCTGCCCGAGGCCTGGCGTG	0.647													T	57394460	G	T	57394460	3	4	65	1	0	0	0	0	1	0	0	0	2894	1000	35	5	191	5	CCL22	16	57394460	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	487808	57394460	32960293	805	47631											
CIAPIN1	57019	broad.mit.edu	37	chr16	57473215	57473217	+	In_Frame_Del	DEL	AAT	AAT	-													cctgggactaaacctgacaaAataatgtcaaagctggattc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:57473214_57473216AAAT>A	uc002ell.1	-	2	359_361	c.188_190ATTT>T	c.(187-192)attttg>aTtg	p.L64del	CIAPIN1_uc002elm.1_Intron|CIAPIN1_uc010vhm.1_In_Frame_Del_p.L64del	NM_020313	NP_064709	Q6FI81	CPIN1_HUMAN	Homo sapiens cytokine induced apoptosis inhibitor 1 (CIAPIN1), mRNA.	64					anti-apoptosis|apoptosis	cytoplasm|nucleolus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						AAACCTGACAAAATAATGTCAAA	0.493													-	57473217	AAT	-	57473215	7	5	65	1	0	1	0	1	0	0	0	0	3419	10	1	0	777	0	CIAPIN1	16	57473215	In_Frame_Del	DEL	AAT	TCGA-BR-8081-01A-11D-2340-08	78755	57473215	32881538	806	47632											
KATNB1	10300	broad.mit.edu	37	chr16	57789377	57789377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagaacctggacactgtgCgggctgtgtggaccatgggc	15	10	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:57789377C>T	uc002eml.1	+	16	1911	c.1537C>T	c.(1537-1539)CGG>TGG	p.R513W		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	513	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity				0		all_neural(199;0.223)				GGACACTGTGCGGGCTGTGTG	0.657													T	57789377	C	T	57789377	3	4	65	1	0	0	0	0	1	0	0	0	7987	759	27	1	1595	1	KATNB1	16	57789377	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	316162	57789377	32565376	807	47633											
TEPP	374739	broad.mit.edu	37	chr16	58019155	58019155	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggtacttgaagcccgacgTgacccagacctggcgggtag	15	12	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:58019155T>C	uc002emw.3	+	5	708	c.671T>C	c.(670-672)GTG>GCG	p.V224A	TEPP_uc002emv.3_Missense_Mutation_p.V224A	NM_199456	NP_955535	Q6URK8	TEPP_HUMAN	testis/prostate/placenta-expressed protein	224						extracellular region				kidney(1)|central_nervous_system(1)|skin(1)	3						AAGCCCGACGTGACCCAGACC	0.716													C	58019155	T	C	58019155	3	2	65	1	0	0	0	0	1	0	0	0	15757	1696	59	3	689	3	TEPP	16	58019155	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	229778	58019155	32335598	808	47634											
FBXL8	55336	broad.mit.edu	37	chr16	67197644	67197644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctggacgccttccgcgCgcactgcccgcgcctgcgca	14	18	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:67197644C>T	uc002erj.1	+	3	1166	c.1046C>T	c.(1045-1047)GCG>GTG	p.A349V	FBXL8_uc002erk.1_Missense_Mutation_p.A349V|HSF4_uc002erl.1_5'UTR|HSF4_uc002erm.1_5'UTR|HSF4_uc002ern.1_5'Flank|HSF4_uc010cec.1_5'Flank	NM_018378	NP_060848	Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	349							protein binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		GCCTTCCGCGCGCACTGCCCG	0.706													T	67197644	C	T	67197644	3	4	65	1	0	0	0	0	1	0	0	0	5725	768	27	1	1052	1	FBXL8	16	67197644	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	9178489	67197644	23157109	809	47635											
CTCF	10664	broad.mit.edu	37	chr16	67645339	67645340	+	Frame_Shift_Ins	INS	-	-	A													agactatcagccaccagccaINSaaaaaacaaagaaaaccaaa							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:67645338_67645339C>CA	uc002etl.3	+	2	1047_1048	c.603_604C>CA	c.(601-606)gccaaafs	p.A201fs	CTCF_uc010cek.3_Intron	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	201					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGCCACCAGCCAAAAAAACAAA	0.475													A	67645340	-	A	67645339	7	5	65	1	0	1	1	0	0	0	0	0	4000	131	5	0	606	0	CTCF	16	67645339	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	447695	67645339	22709414	810	47636											
ACD	65057	broad.mit.edu	37	chr16	67691945	67691945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggtcctgggaaaaggcgGccgattcttgcagggcaacc	14	12	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:67691945G>A	uc002etq.3	-	10	1745	c.1408C>T	c.(1408-1410)CCG>TCG	p.P470S	ACD_uc002etp.3_Missense_Mutation_p.P467S|ACD_uc002etr.3_Missense_Mutation_p.P467S|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	470					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGAAAAGGCGGCCGATTCTTG	0.612													A	67691945	G	A	67691945	3	1	65	1	0	0	0	0	1	0	0	0	135	1203	42	2	238	2	ACD	16	67691945	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	46606	67691945	22662808	811	47637											
C16orf48	84080	broad.mit.edu	37	chr16	67699037	67699037	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaatctccctgatccgcctCaggttctccttctcatggtc	7	15	4	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:67699037C>T	uc002etw.1	-	3	598	c.315G>A	c.(313-315)CTG>CTA	p.L105L	C16orf48_uc002etv.1_5'Flank|C16orf48_uc010cem.1_Silent_p.L105L|C16orf86_uc002etx.1_5'Flank|C16orf86_uc002ety.2_5'Flank|C16orf86_uc002etz.2_5'Flank	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN	hypothetical protein LOC84080	105						microtubule cytoskeleton	protein binding				0		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGATCCGCCTCAGGTTCTCCT	0.597													T	67699037	C	T	67699037	2	4	65	1	0	0	0	0	0	0	0	1	1816	813	29	4		4	C16orf48	16	67699037	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	7092	67699037	22655716	812	47638											
C16orf86	388284	broad.mit.edu	37	chr16	67701280	67701280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaccagcgcccagcaggcGcagcttcggagtcggagctc	14	14	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:67701280G>A	uc002ety.2	+	2	341	c.184G>A	c.(184-186)GCA>ACA	p.A62T	C16orf48_uc002etv.1_5'Flank|C16orf48_uc002etw.1_5'Flank|C16orf48_uc010cem.1_5'Flank|C16orf86_uc002etx.1_5'UTR|C16orf86_uc002etz.2_RNA	NM_001012984	NP_001013002	Q6ZW13	CP086_HUMAN	hypothetical protein LOC388284	62											0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCCAGCAGGCGCAGCTTCGGA	0.682													A	67701280	G	A	67701280	3	1	65	1	0	0	0	0	1	0	0	0	1839	1087	38	1	190	1	C16orf86	16	67701280	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2243	67701280	22653473	813	47639											
ESRP2	80004	broad.mit.edu	37	chr16	68265946	68265946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccgagaagggcagtcccCgcagccgcaggatcacttgg	14	14	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:68265946C>T	uc010cfa.1	-	10	1276	c.1088G>A	c.(1087-1089)CGG>CAG	p.R363Q	ESRP2_uc002evp.1_RNA|ESRP2_uc002evq.1_Missense_Mutation_p.R353Q	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	RNA binding motif protein 35B	363	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1						GGGCAGTCCCCGCAGCCGCAG	0.612													T	68265946	C	T	68265946	3	4	65	1	0	0	0	0	1	0	0	0	5259	652	23	1	1119	1	ESRP2	16	68265946	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	564666	68265946	22088807	814	47640											
SNTB2	6645	broad.mit.edu	37	chr16	69334794	69334794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttgcacacgtttttatcGgccaaagtcactcgtatggg	11	9	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:69334794G>A	uc002ewu.2	+	7	1610	c.1590G>A	c.(1588-1590)TCG>TCA	p.S530S	SNTB2_uc010cfk.2_5'Flank	NM_006750	NP_006741	Q13425	SNTB2_HUMAN	basic beta 2 syntrophin	530	Calmodulin-binding (By similarity).|SU.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		CGTTTTTATCGGCCAAAGTCA	0.423													A	69334794	G	A	69334794	2	1	65	1	0	0	0	0	0	0	0	1	14873	1103	39	1		1	SNTB2	16	69334794	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1068848	69334794	21019959	815	47641											
PHLPP2	23035	broad.mit.edu	37	chr16	71689196	71689196	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtgtcattagttgactgCtgtacctcttctaaaagcac	7	10	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:71689196C>T	uc002fax.2	-	16	2538	c.2532G>A	c.(2530-2532)CAG>CAA	p.Q844Q	PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Silent_p.Q777Q	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	844	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						TAGTTGACTGCTGTACCTCTT	0.478													T	71689196	C	T	71689196	2	4	65	1	0	0	0	0	0	0	0	1	11855	796	28	2		2	PHLPP2	16	71689196	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2354402	71689196	18665557	816	47642											
AP1G1	164	broad.mit.edu	37	chr16	71779115	71779115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatggtttgcttgtaggcGcagttggaataacaggtgtt	14	4	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:71779115G>A	uc010cgg.2	-	19	2245	c.1931C>T	c.(1930-1932)GCG>GTG	p.A644V	AP1G1_uc002fba.2_Missense_Mutation_p.A647V|AP1G1_uc002fbb.2_Missense_Mutation_p.A667V|AP1G1_uc002faz.2_Missense_Mutation_p.A61V	NM_001128	NP_001119	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1	644					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			ovary(2)	2		Ovarian(137;0.125)				GCTTGTAGGCGCAGTTGGAAT	0.408													A	71779115	G	A	71779115	3	1	65	1	0	0	0	0	1	0	0	0	732	1087	38	1	557	1	AP1G1	16	71779115	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	89919	71779115	18575638	817	47643											
ATMIN	23300	broad.mit.edu	37	chr16	81078429	81078429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctgggtttgaaaccctgGggagcttgttcttcaccagc	12	10	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:81078429G>A	uc002ffz.1	+	4	2344	c.2326G>A	c.(2326-2328)GGG>AGG	p.G776R	ATMIN_uc002fga.2_Missense_Mutation_p.G618R|ATMIN_uc010vnn.1_Missense_Mutation_p.G547R|ATMIN_uc002fgb.1_Missense_Mutation_p.G618R	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	776					response to DNA damage stimulus	nucleus	zinc ion binding				0						TGAAACCCTGGGGAGCTTGTT	0.463													A	81078429	G	A	81078429	3	1	65	1	0	0	0	0	1	0	0	0	1110	1232	43	4	2340	4	ATMIN	16	81078429	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	9299314	81078429	9276324	818	47644											
CDH13	1012	broad.mit.edu	37	chr16	83378583	83378583	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcgggaaggcccctacatCggccacgtcatggaagggtc	13	12	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:83378583C>T	uc002fgx.2	+	6	873	c.753C>T	c.(751-753)ATC>ATT	p.I251I	CDH13_uc010vns.1_Silent_p.I298I|CDH13_uc010vnt.1_5'UTR|CDH13_uc010vnu.1_Silent_p.I212I	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	251	Cadherin 2.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GCCCCTACATCGGCCACGTCA	0.507													T	83378583	C	T	83378583	2	4	65	1	0	0	0	0	0	0	0	1	3099	874	31	1		1	CDH13	16	83378583	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2300154	83378583	6976170	819	47645											
KLHL36	79786	broad.mit.edu	37	chr16	84684525	84684525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcggccatacaagatcagcGaatcatcaaaggtctgtgaa	9	10	4	2	rs79842977	by1000genomes	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:84684525G>A	uc002fig.2	+	2	193	c.52G>A	c.(52-54)GAA>AAA	p.E18K	KLHL36_uc010chl.2_Missense_Mutation_p.E17K	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	kelch-like 36	18										skin(2)	2						CAAGATCAGCGAATCATCAAA	0.438													A	84684525	G	A	84684525	3	1	65	1	0	0	0	0	1	0	0	0	8389	1059	37	1	54	1	KLHL36	16	84684525	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1305942	84684525	5670228	820	47646											
FOXF1	2294	broad.mit.edu	37	chr16	86544715	86544715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcggccggcggcctctcGtgcccgcccaacagcctggc	14	19	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:86544715G>A	uc002fjl.2	+	1	583	c.540G>A	c.(538-540)TCG>TCA	p.S180S	uc002fjk.1_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	180					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0						GCGGCCTCTCGTGCCCGCCCA	0.687													A	86544715	G	A	86544715	2	1	65	1	0	0	0	0	0	0	0	1	6005	1132	40	1		1	FOXF1	16	86544715	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1860190	86544715	3810038	821	47647											
MTHFSD	64779	broad.mit.edu	37	chr16	86582174	86582174	+	Frame_Shift_Del	DEL	T	T	-													tggtgttggaaccaacaatgTttttttgctcttttaaagaa							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:86582173_86582173GT>G	uc002fjn.3	-	3	299	c.248_248AC>C	c.(247-249)acafs	p.T83fs	MTHFSD_uc002fjm.3_Frame_Shift_Del_p.T82fs|MTHFSD_uc010voo.2_Frame_Shift_Del_p.T63fs|MTHFSD_uc010vop.2_5'UTR|MTHFSD_uc010voq.2_Frame_Shift_Del_p.T82fs|MTHFSD_uc010vor.2_Frame_Shift_Del_p.T83fs|MTHFSD_uc002fjo.3_5'UTR|MTHFSD_uc002fjp.2_Frame_Shift_Del_p.T63fs	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	Homo sapiens methenyltetrahydrofolate synthetase domain containing (MTHFSD), transcript variant 1, mRNA.	83					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						AACCAACAATGTTTTTTTGCT	0.358													-	86582174	T	-	86582174	7	5	65	1	0	1	0	1	0	0	0	0	9933	1725	60	0	924	0	MTHFSD	16	86582174	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	37459	86582174	3772579	822	47648											
ZC3H18	124245	broad.mit.edu	37	chr16	88691141	88691142	+	Frame_Shift_Ins	INS	-	-	CC													aaggagcggccagccaggacINScccccccaggaggtgagcac							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:88691140_88691141A>ACC	uc010voz.2	+	12	2301_2302	c.2101_2102A>ACC	c.(2101-2103)accfs	p.T701fs	ZC3H18_uc002fky.3_Frame_Shift_Ins_p.T677fs|ZC3H18_uc010chw.3_Non-coding_Transcript|ZC3H18_uc002fkz.3_5'Flank	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	677	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding	p.R680fs*5(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GCCAGCCAGGACCCCCCCCAGG	0.663													CC	88691142	-	CC	88691141	7	5	65	1	0	1	1	0	0	0	0	0	17565	507	18	0	2072	0	ZC3H18	16	88691141	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	2108967	88691141	1663612	823	47649											
SMG6	23293	broad.mit.edu	37	chr17	2202634	2202634	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaagaaatgtagctggggCgtctgagtctttagagcagg	14	7	2	3	rs149206280	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:2202634C>T	uc002fub.1	-	2	1468	c.1413G>A	c.(1411-1413)ACG>ACA	p.T471T	SMG6_uc002fud.1_Silent_p.T440T	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	471	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4						GTAGCTGGGGCGTCTGAGTCT	0.517													T	2202634	C	T	2202634	2	4	65	1	0	0	0	0	0	0	0	1	14797	755	27	1		1	SMG6	17	2202634	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08		2202634	78992576	824	47650											
ATP2A3	489	broad.mit.edu	37	chr17	3850715	3850715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatctgattggtggtgagCgtgcccgtcttgtcggagca	15	9	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:3850715C>T	uc002fxb.1	-	8	1216	c.1065G>A	c.(1063-1065)ACG>ACA	p.T355T	ATP2A3_uc002fwx.1_Silent_p.T355T|ATP2A3_uc002fwy.1_Silent_p.T355T|ATP2A3_uc002fwz.1_Silent_p.T355T|ATP2A3_uc002fxa.1_Silent_p.T355T|ATP2A3_uc002fxc.1_Silent_p.T355T|ATP2A3_uc002fxd.1_Silent_p.T355T	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	355	Cytoplasmic (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TGGTGGTGAGCGTGCCCGTCT	0.647													T	3850715	C	T	3850715	2	4	65	1	0	0	0	0	0	0	0	1	1138	755	27	1		1	ATP2A3	17	3850715	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1648081	3850715	77344495	825	47651											
MYBBP1A	10514	broad.mit.edu	37	chr17	4446270	4446270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttctcctgtgtctcatGcacgcagccctcagcagtgt	9	15	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:4446270G>A	uc002fyb.3	-	20	2892	c.2830C>T	c.(2830-2832)CAT>TAT	p.H944Y	MYBBP1A_uc002fxz.3_Missense_Mutation_p.H944Y|MYBBP1A_uc002fya.3_5'Flank|MYBBP1A_uc010vsa.1_5'UTR	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	944					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						TGTGTCTCATGCACGCAGCCC	0.662													A	4446270	G	A	4446270	3	1	65	1	0	0	0	0	1	0	0	0	10008	1319	46	2	1224	2	MYBBP1A	17	4446270	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	595555	4446270	76748940	826	47652											
PELP1	27043	broad.mit.edu	37	chr17	4576294	4576294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggggcccggaggatggaaCggtggggccctgaagggcga	21	8	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:4576294C>T	uc002fyi.3	-	16	2218	c.1992G>A	c.(1990-1992)CCG>CCA	p.P664P	PELP1_uc010vsf.1_Silent_p.P517P	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	664	Pro-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2						GAGGATGGAACGGTGGGGCCC	0.721													T	4576294	C	T	4576294	2	4	65	1	0	0	0	0	0	0	0	1	11725	523	19	1		1	PELP1	17	4576294	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	130024	4576294	76618916	827	47653											
ZMYND15	84225	broad.mit.edu	37	chr17	4647919	4647919	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccactcctggggcccctcaGgacagcctggaggtgtctgt	13	15	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:4647919G>T	uc002fyt.2	+	10	1606	c.1567_splice	c.e10-1	p.D523_splice	ZMYND15_uc002fyv.2_Splice_Site_p.D562_splice|ZMYND15_uc002fyu.2_Splice_Site_p.D562_splice	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15 isoform 2								zinc ion binding				0						GGGCCCCTCAGGACAGCCTGG	0.642													T	4647919	G	T	4647919	5	4	65	1	0	0	0	0	0	0	1	0	17705	1014	35	5	1721	5	ZMYND15	17	4647919	Splice_Site	SNP	G	TCGA-BR-8081-01A-11D-2340-08	71625	4647919	76547291	828	47654											
CAMTA2	23125	broad.mit.edu	37	chr17	4875560	4875560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcctgtgggctgtcagcGtcctctggagcagccccatc	12	15	2	0	rs147321617		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:4875560G>A	uc002gah.1	-	16	2883	c.2775C>T	c.(2773-2775)GAC>GAT	p.D925D	CAMTA2_uc010cku.1_Silent_p.D948D|CAMTA2_uc002gag.1_Silent_p.D924D|CAMTA2_uc002gai.1_Silent_p.D927D|CAMTA2_uc010ckv.1_Silent_p.D572D	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	925					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						GGCTGTCAGCGTCCTCTGGAG	0.577													A	4875560	G	A	4875560	2	1	65	1	0	0	0	0	0	0	0	1	2614	1136	40	1		1	CAMTA2	17	4875560	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	227641	4875560	76319650	829	47655											
NUP88	4927	broad.mit.edu	37	chr17	5314064	5314064	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttcggcttctgaaagTattatcacgttagtgggtgt	10	8	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:5314064T>C	uc002gbo.1	-	4	665	c.639A>G	c.(637-639)ATA>ATG	p.I213M	NUP88_uc010vsx.1_Missense_Mutation_p.I213M|NUP88_uc010cle.1_Missense_Mutation_p.I213M|NUP88_uc010vsy.1_Missense_Mutation_p.I213M	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	213					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1						CTTCTGAAAGTATTATCACGT	0.348													C	5314064	T	C	5314064	3	2	65	1	0	0	0	0	1	0	0	0	10771	1628	57	3	1642	3	NUP88	17	5314064	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	438504	5314064	75881146	830	47656											
DVL2	1856	broad.mit.edu	37	chr17	7129594	7129594	+	Frame_Shift_Del	DEL	C	C	-													gggcctccccgtgcgccctgCccccccatcactccgtgtcg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:7129593_7129593GC>G	uc002gez.1	-	14	2084	c.1802_1802GC>C	c.(1801-1803)gcafs	p.A601fs	MIR324_uc002gey.2_5'Flank|DVL2_uc010vtr.1_Frame_Shift_Del_p.A595fs	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	601					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	p.A601fs*80(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CGTGCGCCCTGCCCCCCCATC	0.726													-	7129594	C	-	7129594	7	5	65	1	0	1	0	1	0	0	0	0	4836	739	26	0	413	0	DVL2	17	7129594	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	1815530	7129594	74065616	831	47657											
C17orf81	23587	broad.mit.edu	37	chr17	7158035	7158035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcctgtcaccattgctctcGattcactcagctggctgcta	7	14	4	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:7158035G>A	uc002gfg.1	+	5	477	c.370G>A	c.(370-372)GAT>AAT	p.D124N	DULLARD_uc002gfe.2_5'Flank|DULLARD_uc002gff.2_5'Flank|C17orf81_uc002gfj.2_Missense_Mutation_p.D124N|C17orf81_uc010cmb.2_Missense_Mutation_p.D124N|C17orf81_uc002gfh.1_Missense_Mutation_p.D124N|C17orf81_uc002gfi.1_Missense_Mutation_p.D124N|C17orf81_uc002gfk.1_Missense_Mutation_p.D124N|C17orf81_uc002gfl.1_Missense_Mutation_p.D124N	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN	S-phase 2 protein isoform 4	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding				0						CATTGCTCTCGATTCACTCAG	0.582													A	7158035	G	A	7158035	3	1	65	1	0	0	0	0	1	0	0	0	1886	1058	37	1	384	1	C17orf81	17	7158035	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	28441	7158035	74037175	832	47658											
SLC2A4	6517	broad.mit.edu	37	chr17	7186563	7186563	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctttgtgtctgcctgttcaGgatggggaaccccctcagca	11	12	4	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:7186563G>T	uc002gfp.2	+	2	234	c.34_splice	c.e2-1	p.D12_splice	SLC2A4_uc002gfo.2_Splice_Site_p.D12_splice|SLC2A4_uc010cmd.2_Splice_Site	NM_001042	NP_001033	P14672	GTR4_HUMAN	glucose transporter 4						carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding				0						TGCCTGTTCAGGATGGGGAAC	0.572													T	7186563	G	T	7186563	5	4	65	1	0	0	0	0	0	0	1	0	14546	1014	35	5	39	5	SLC2A4	17	7186563	Splice_Site	SNP	G	TCGA-BR-8081-01A-11D-2340-08	28528	7186563	74008647	833	47659											
NLGN2	57555	broad.mit.edu	37	chr17	7319189	7319189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggtggcaccagctgtggCcactgccaagctgcacgccg	14	14	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:7319189C>T	uc002ggt.1	+	6	1470	c.1397C>T	c.(1396-1398)GCC>GTC	p.A466V		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2 precursor	466	Extracellular (Potential).				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)	1		Prostate(122;0.157)				CCAGCTGTGGCCACTGCCAAG	0.612													T	7319189	C	T	7319189	3	4	65	1	0	0	0	0	1	0	0	0	10462	739	26	2	1419	2	NLGN2	17	7319189	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	132626	7319189	73876021	834	47660											
CHRNB1	1140	broad.mit.edu	37	chr17	7351982	7351982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagggagggaaggacagcGccaggaagtcatcttctacc	16	9	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:7351982G>A	uc002ghb.2	+	7	736	c.695G>A	c.(694-696)CGC>CAC	p.R232H	CHRNB1_uc010vty.1_Missense_Mutation_p.R160H|CHRNB1_uc010vtz.1_Missense_Mutation_p.R66H	NM_000747	NP_000738	P11230	ACHB_HUMAN	nicotinic acetylcholine receptor beta 1 subunit	232	Extracellular (Potential).				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			ovary(2)	2		Prostate(122;0.157)				GAAGGACAGCGCCAGGAAGTC	0.562													A	7351982	G	A	7351982	3	1	65	1	0	0	0	0	1	0	0	0	3390	1087	38	1	721	1	CHRNB1	17	7351982	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	32793	7351982	73843228	835	47661											
TP53	7157	broad.mit.edu	37	chr17	7577036	7577036	+	Frame_Shift_Del	DEL	G	G	-													tacctcgcttagtgctccctGggggcagctcgtggtgaggc					rs72661120		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:7577035_7577035TG>T	uc002gim.2	-	7	1097	c.903_903CA>A	c.(901-903)ccafs	p.P301fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.P301fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.P169fs|TP53_uc010cnf.1_Frame_Shift_Del_p.P169fs|TP53_uc002gii.1_Frame_Shift_Del_p.P169fs|TP53_uc010cni.1_Frame_Shift_Del_p.P301fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P301fs|TP53_uc002gij.2_Frame_Shift_Del_p.P301fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	301	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P301fs*44(9)|p.0?(8)|p.P300L(6)|p.G302fs*4(5)|p.P301P(4)|p.P301S(3)|p.P300S(3)|p.?(3)|p.P301fs*5(3)|p.P300A(2)|p.H296_S303delHHELPPGS(2)|p.P301_S303delPGS(2)|p.L265_K305del41(2)|p.E298_P301delELPP(2)|p.P300P(1)|p.P300fs*44(1)|p.P300R(1)|p.G293fs*1(1)|p.P300fs*6(1)|p.L299fs*2(1)|p.P301fs*45(1)|p.P301fs*?(1)|p.P301Q(1)|p.P301T(1)|p.P301L(1)|p.P301A(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TAGTGCTCCCTGGGGGCAGCT	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			-	7577036	G	-	7577036	7	5	65	1	0	1	0	1	0	0	0	0	16378	1348	47	0	384	0	TP53	17	7577036	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	225054	7577036	73618174	836	47662											
LSMD1	84316	broad.mit.edu	37	chr17	7760760	7760760	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attctcttctcgtagcagcaTggtcggtccagctccggcca	10	14	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:7760760T>C	uc002giz.2	-	1	121	c.22A>G	c.(22-24)ATG>GTG	p.M8V	LSMD1_uc002gja.2_5'UTR|CYB5D1_uc010cnn.1_5'Flank|CYB5D1_uc002gjb.3_5'Flank			Q9BRA0	LSMD1_HUMAN	RecName: Full=LSM domain-containing protein 1; AltName: Full=Phosphonoformate immuno-associated protein 2;	8						cytoplasm|nucleus				ovary(1)	1		all_cancers(10;0.11)|Prostate(122;0.219)				CGTAGCAGCATGGTCGGTCCA	0.612													C	7760760	T	C	7760760	3	2	65	1	0	0	0	0	1	0	0	0	9062	1479	51	3		3	LSMD1	17	7760760	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	183724	7760760	73434450	837	47663											
CNTROB	116840	broad.mit.edu	37	chr17	7852792	7852792	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaagtgggcaccctgccccGagtagcatgaggagccgggg	16	11	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:7852792G>A	uc002gjq.2	+	20	3595	c.2676G>A	c.(2674-2676)CCG>CCA	p.P892P	CNTROB_uc002gjp.2_Silent_p.P914P|CNTROB_uc002gjr.2_Silent_p.P795P	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	892	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)				ACCCTGCCCCGAGTAGCATGA	0.547													A	7852792	G	A	7852792	2	1	65	1	0	0	0	0	0	0	0	1	3651	1045	37	1		1	CNTROB	17	7852792	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	92032	7852792	73342418	838	47664											
ARHGEF15	22899	broad.mit.edu	37	chr17	8215445	8215445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctccttctcgttccaggGctgcccagtccccagggcct	10	19	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:8215445G>A	uc002glc.2	+	2	209	c.88G>A	c.(88-90)GCT>ACT	p.A30T	ARHGEF15_uc002glb.1_Missense_Mutation_p.A30T|ARHGEF15_uc002gld.2_Missense_Mutation_p.A30T|ARHGEF15_uc010vuw.1_Missense_Mutation_p.A30T	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	30	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						TCGTTCCAGGGCTGCCCAGTC	0.622													A	8215445	G	A	8215445	3	1	65	1	0	0	0	0	1	0	0	0	898	1203	42	2	90	2	ARHGEF15	17	8215445	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	362653	8215445	72979765	839	47665											
ARHGEF15	22899	broad.mit.edu	37	chr17	8224298	8224299	+	Frame_Shift_Ins	INS	-	-	C													tcttcaggcacccccaatgcINSccccccaccctaatgcaggc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:8224297_8224298G>GC	uc002glc.3	+	15	2667_2668	c.2512_2513G>GC	c.(2512-2514)gccfs	p.A838fs	ARHGEF15_uc002gld.3_Frame_Shift_Ins_p.A838fs|ARHGEF15_uc010vuw.2_Frame_Shift_Ins_p.A727fs	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	838					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CACCCCCAATGCCCCCCCACCC	0.574													C	8224299	-	C	8224298	7	5	65	1	0	1	1	0	0	0	0	0	898	739	26	0	2571	0	ARHGEF15	17	8224298	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	8853	8224298	72970912	840	47666											
PIK3R5	23533	broad.mit.edu	37	chr17	8790929	8790929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagggctggtcccatgacttCgcttcacaggcacgtagaag	12	12	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:8790929C>T	uc002glt.2	-	11	1755	c.1688G>A	c.(1687-1689)CGA>CAA	p.R563Q	PIK3R5_uc010vuz.1_Missense_Mutation_p.R563Q|PIK3R5_uc002glu.3_Missense_Mutation_p.R177Q	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	563					platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						CCCATGACTTCGCTTCACAGG	0.607													T	8790929	C	T	8790929	3	4	65	1	0	0	0	0	1	0	0	0	11922	884	31	1	990	1	PIK3R5	17	8790929	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	566631	8790929	72404281	841	47667											
MYH13	8735	broad.mit.edu	37	chr17	10258072	10258072	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggctcacgaaggggaagtcGaaggggttggtggagatcag	19	5	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:10258072G>A	uc002gmk.1	-	11	1020	c.930C>T	c.(928-930)TTC>TTT	p.F310F		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	310	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						AGGGGAAGTCGAAGGGGTTGG	0.463													A	10258072	G	A	10258072	2	1	65	1	0	0	0	0	0	0	0	1	10032	1049	37	1		1	MYH13	17	10258072	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1467143	10258072	70937138	842	47668											
MYH8	4626	broad.mit.edu	37	chr17	10296236	10296236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctgcaggtccttcaccGtctgctccaggttcttcttc	9	14	4	0	rs144962215		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:10296236G>A	uc002gmm.2	-	37	5470	c.5375C>T	c.(5374-5376)ACG>ATG	p.T1792M	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1792	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						GTCCTTCACCGTCTGCTCCAG	0.557									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				A	10296236	G	A	10296236	3	1	65	1	0	0	0	0	1	0	0	0	10041	1145	40	1	454	1	MYH8	17	10296236	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	38164	10296236	70898974	843	47669											
MYH1	4619	broad.mit.edu	37	chr17	10404747	10404747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccgggagagatcagagcGctgcttctctgctttggccc	12	14	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:10404747G>A	uc002gmo.2	-	27	3512	c.3418C>T	c.(3418-3420)CGC>TGC	p.R1140C	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1140	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						AGATCAGAGCGCTGCTTCTCT	0.587													A	10404747	G	A	10404747	3	1	65	1	0	0	0	0	1	0	0	0	10029	1087	38	1	2457	1	MYH1	17	10404747	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	108511	10404747	70790463	844	47670											
MYH2	4620	broad.mit.edu	37	chr17	10441021	10441021	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggcagccaggtccatcccGaagtcgatgaacgtccactc	10	15	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:10441021G>A	uc010coi.2	-	15	1676	c.1548C>T	c.(1546-1548)TTC>TTT	p.F516F	uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.F516F|MYH2_uc010coj.2_Silent_p.F516F	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	516	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						GGTCCATCCCGAAGTCGATGA	0.463													A	10441021	G	A	10441021	2	1	65	1	0	0	0	0	0	0	0	1	10035	1049	37	1		1	MYH2	17	10441021	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	36274	10441021	70754189	845	47671											
DNAH9	1770	broad.mit.edu	37	chr17	11775053	11775053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcttcacaaagaaatacCggcagagcctcctggacaga	9	12	2	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:11775053C>T	uc002gne.2	+	52	10260	c.10192C>T	c.(10192-10194)CGG>TGG	p.R3398W	DNAH9_uc010coo.2_Missense_Mutation_p.R2692W	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3398					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAAGAAATACCGGCAGAGCCT	0.383													T	11775053	C	T	11775053	3	4	65	1	0	0	0	0	1	0	0	0	4608	643	23	1	10398	1	DNAH9	17	11775053	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1334032	11775053	69420157	846	47672											
TEKT3	64518	broad.mit.edu	37	chr17	15212047	15212047	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctcatccagtctggtcTgagccaccttcaggaaggca	11	13	4	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:15212047T>C	uc002gon.2	-	8	1377	c.1190A>G	c.(1189-1191)CAG>CGG	p.Q397R		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	tektin 3	397					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CAGTCTGGTCTGAGCCACCTT	0.547													C	15212047	T	C	15212047	3	2	65	1	0	0	0	0	1	0	0	0	15751	1580	55	3	290	3	TEKT3	17	15212047	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	3436994	15212047	65983163	847	47673											
TOM1L2	146691	broad.mit.edu	37	chr17	17788064	17788064	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgagatcaggactgcttcGaaaggcatcagcccatgcct	12	11	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:17788064G>A	uc002grz.3	-	5	542	c.385C>T	c.(385-387)CGA>TGA	p.R129*	TOM1L2_uc002gry.3_Nonsense_Mutation_p.R79*|TOM1L2_uc010vwy.1_Nonsense_Mutation_p.R129*|TOM1L2_uc010cpr.2_Intron|TOM1L2_uc010vwz.1_Intron|TOM1L2_uc010vxa.1_Intron|TOM1L2_uc010vxb.1_Nonsense_Mutation_p.R79*	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 isoform 3	129	VHS.				intracellular protein transport	intracellular					0	all_neural(463;0.228)					GGACTGCTTCGAAAGGCATCA	0.512													A	17788064	G	A	17788064	4	1	65	1	0	0	0	0	0	1	0	0	16350	1066	37	1	1182	1	TOM1L2	17	17788064	Nonsense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2576017	17788064	63407146	848	47674											
MYO15A	51168	broad.mit.edu	37	chr17	18058634	18058634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctctgccccagggcagcGtgggcactggtgtgcagctc	14	14	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:18058634G>A	uc010vxh.1	+	46	8685	c.8347G>A	c.(8347-8349)GTG>ATG	p.V2783M	MYO15A_uc010vxi.1_Missense_Mutation_p.V47M|MYO15A_uc010vxj.1_Translation_Start_Site|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	2783	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CCAGGGCAGCGTGGGCACTGG	0.647													A	18058634	G	A	18058634	3	1	65	1	0	0	0	0	1	0	0	0	10063	1145	40	1	8525	1	MYO15A	17	18058634	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	270570	18058634	63136576	849	47675											
CYTSB	92521	broad.mit.edu	37	chr17	20109123	20109123	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagaaatgttgaaagtagcCcgagcagagaaagatctact	10	7	1	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:20109123C>A	uc002gwq.2	+	4	1906	c.1761C>A	c.(1759-1761)GCC>GCA	p.A587A	CYTSB_uc010cqx.2_Silent_p.A587A|CYTSB_uc002gwr.2_Silent_p.A587A|CYTSB_uc002gws.2_Silent_p.A587A|CYTSB_uc002gwv.2_Silent_p.A506A|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Silent_p.A363A|CYTSB_uc002gwt.2_Silent_p.A506A|CYTSB_uc002gwu.2_Silent_p.A506A	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	587	Potential.					nucleus					0						TGAAAGTAGCCCGAGCAGAGA	0.473													A	20109123	C	A	20109123	2	1	65	1	0	0	0	0	0	0	0	1	4210	610	22	5		5	CYTSB	17	20109123	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2050489	20109123	61086087	850	47676											
LGALS9B	284194	broad.mit.edu	37	chr17	20354904	20354904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagcattctcatcaaaacGggggttcatgtggaaggcga	12	9	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:20354904G>A	uc002gxa.1	-	10	879	c.814C>T	c.(814-816)CGT>TGT	p.R272C	LGALS9B_uc002gwz.1_Missense_Mutation_p.R271C|LGALS9B_uc010vzh.1_Missense_Mutation_p.R184C	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	galectin-9 like	272	Galectin 2.						sugar binding			skin(1)	1						TCATCAAAACGGGGGTTCATG	0.572													A	20354904	G	A	20354904	3	1	65	1	0	0	0	0	1	0	0	0	8749	1116	39	1	264	1	LGALS9B	17	20354904	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	245781	20354904	60840306	851	47677											
DHRS7B	25979	broad.mit.edu	37	chr17	21087756	21087756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatccagggcaagatgaGcattccttttcgatcagcat	9	11	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:21087756G>A	uc002gyo.2	+	5	626	c.599G>A	c.(598-600)AGC>AAC	p.S200N		NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	200	Peroxisomal (Potential).					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			pancreas(1)	1						GGCAAGATGAGCATTCCTTTT	0.448													A	21087756	G	A	21087756	3	1	65	1	0	0	0	0	1	0	0	0	4496	971	34	2	617	2	DHRS7B	17	21087756	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	732852	21087756	60107454	852	47678											
SEZ6	124925	broad.mit.edu	37	chr17	27287983	27287983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcattgcggatcactccgcCgcaagcagctgttaagacca	11	13	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:27287983C>T	uc002hdp.2	-	6	1443	c.1249G>A	c.(1249-1251)GGC>AGC	p.G417S	SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.G417S|SEZ6_uc002hdq.1_Missense_Mutation_p.G292S	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	seizure related 6 homolog isoform 1	417	Extracellular (Potential).|CUB 1.			AACG -> GECP (in Ref. 1; AAM22213/ AAK71497).|G -> P (in Ref. 1; AAM22213/AAK71497).		integral to membrane|plasma membrane				large_intestine(1)|central_nervous_system(1)	2	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ATCACTCCGCCGCAAGCAGCT	0.607													T	27287983	C	T	27287983	3	4	65	1	0	0	0	0	1	0	0	0	14142	652	23	1	1796	1	SEZ6	17	27287983	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	6200227	27287983	53907227	853	47679											
ABHD15	116236	broad.mit.edu	37	chr17	27889934	27889934	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactgcagatacacagcacaGgcacggctgcctcatcgaca	9	15	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:27889934G>T	uc002hed.1	-	2	1116	c.1052C>A	c.(1051-1053)CCT>CAT	p.P351H		NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15 precursor	351						extracellular region	carboxylesterase activity				0						ACACAGCACAGGCACGGCTGC	0.592													T	27889934	G	T	27889934	3	4	65	1	0	0	0	0	1	0	0	0	81	1000	35	5	358	5	ABHD15	17	27889934	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	601951	27889934	53305276	854	47680											
SSH2	85464	broad.mit.edu	37	chr17	27994231	27994231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcctttctgttcgttcacGttcagtaggtctgagaagag	11	8	4	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:27994231G>A	uc002heo.1	-	9	739	c.739C>T	c.(739-741)CGT>TGT	p.R247C	SSH2_uc010wbh.1_Missense_Mutation_p.R274C|SSH2_uc002hep.1_Missense_Mutation_p.R247C	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	247					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						GTTCGTTCACGTTCAGTAGGT	0.343													A	27994231	G	A	27994231	3	1	65	1	0	0	0	0	1	0	0	0	15184	1145	40	1	3560	1	SSH2	17	27994231	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	104297	27994231	53200979	855	47681											
EVI2B	2124	broad.mit.edu	37	chr17	29632035	29632035	+	Frame_Shift_Del	DEL	T	T	-													cagctattgaattataattgTttttttgtggggtttgtttg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:29632034_29632034GT>G	uc010csq.2	-	2	822	c.639_639AC>C	c.(637-639)aacfs	p.N213fs	NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_Frame_Shift_Del_p.N198fs|EVI2B_uc021tuk.1_Frame_Shift_Del_p.N198fs	NM_006495	NP_006486	P34910	EVI2B_HUMAN	Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA.	198						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)|p.N199fs*3(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		AATTATAATTGTTTTTTTGTG	0.353													-	29632035	T	-	29632035	7	5	65	1	0	1	0	1	0	0	0	0	5288	1725	60	0	757	0	EVI2B	17	29632035	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	1637804	29632035	51563175	856	47682											
NF1	4763	broad.mit.edu	37	chr17	29670156	29670156	+	Splice_Site	DEL	A	A	-													ttggacaccttttaaaaggtAaaaaagccttatttagaata							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:29670155_29670155TA>T	uc002hgg.3	+	48	7572	c.7189_splice	c.e48+2	p.G2397_splice	NF1_uc002hgh.3_Splice_Site_p.G2376_splice|NF1_uc010cso.3_Splice_Site_p.G585_splice|NF1_uc010wbt.1_Splice_Site|NF1_uc010wbu.1_Splice_Site	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2397					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTAAAAGGTAAAAAAGCCT	0.318			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29670156	A	-	29670156	8	5	65	1	0	1	0	1	0	0	1	0	10356	377	13	0		0	NF1	17	29670156	Splice_Site	DEL	A	TCGA-BR-8081-01A-11D-2340-08	38121	29670156	51525054	857	47683											
TMEM132E	124842	broad.mit.edu	37	chr17	32957032	32957033	+	Frame_Shift_Del	DEL	AG	AG	-													ttctcctccctgcaggacacAgagatcatcaacacggccat							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:32957031_32957032CAG>C	uc002hif.3	+	5	1401_1402	c.1073_1074CAG>C	c.(1072-1074)acafs	p.T358fs		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	358						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CTGCAGGACACAGAGATCATCA	0.624													-	32957033	AG	-	32957032	7	5	65	1	0	1	0	1	0	0	0	0	16045	175	7	0	1096	0	TMEM132E	17	32957032	Frame_Shift_Del	DEL	AG	TCGA-BR-8081-01A-11D-2340-08	3286876	32957032	48238178	858	47684											
GAS2L2	246176	broad.mit.edu	37	chr17	34072083	34072083	+	Frame_Shift_Del	DEL	G	G	-													gctctcaacagcctgtccttGgggggctgcctggctggacc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:34072082_34072082TG>T	uc002hjv.2	-	5	2462	c.2434_2434CA>A	c.(2434-2436)aagfs	p.K812fs		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	812					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGCCTGTCCTTGGGGGGCTGC	0.632													-	34072083	G	-	34072083	7	5	65	1	0	1	0	1	0	0	0	0	6247	1335	47	0	213	0	GAS2L2	17	34072083	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	1115051	34072083	47123127	859	47685											
GAS2L2	246176	broad.mit.edu	37	chr17	34077256	34077256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaaagcgccacgcccggCggcccagctccagcaaacac	9	20	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:34077256C>T	uc002hjv.1	-	2	495	c.467G>A	c.(466-468)CGC>CAC	p.R156H		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	156	CH.				cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCACGCCCGGCGGCCCAGCTC	0.677													T	34077256	C	T	34077256	3	4	65	1	0	0	0	0	1	0	0	0	6247	768	27	1	2195	1	GAS2L2	17	34077256	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	5173	34077256	47117954	860	47686											
ACACA	31	broad.mit.edu	37	chr17	35478397	35478397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgggaaccaaacctggcCagcctgctggattatctatt	9	11	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:35478397C>T	uc002hnm.2	-	50	6234	c.6043G>A	c.(6043-6045)GGC>AGC	p.G2015S	ACACA_uc002hnk.2_Missense_Mutation_p.G1937S|ACACA_uc002hnl.2_Missense_Mutation_p.G1957S|ACACA_uc002hnn.2_Missense_Mutation_p.G2015S|ACACA_uc002hno.2_Missense_Mutation_p.G2052S|ACACA_uc010cuy.2_Missense_Mutation_p.G660S|ACACA_uc010wdb.1_Missense_Mutation_p.G53S|ACACA_uc010wdc.1_Missense_Mutation_p.G141S	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	2015	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CAAACCTGGCCAGCCTGCTGG	0.458													T	35478397	C	T	35478397	3	4	65	1	0	0	0	0	1	0	0	0	106	594	21	4	1025	4	ACACA	17	35478397	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1401141	35478397	45716813	861	47687											
ACACA	31	broad.mit.edu	37	chr17	35614709	35614709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgaagtccccctgcagcaGcaacactgaaatatccccaa	6	15	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:35614709G>A	uc002hnm.2	-	14	1822	c.1631C>T	c.(1630-1632)GCT>GTT	p.A544V	ACACA_uc002hnk.2_Missense_Mutation_p.A466V|ACACA_uc002hnl.2_Missense_Mutation_p.A486V|ACACA_uc002hnn.2_Missense_Mutation_p.A544V|ACACA_uc002hno.2_Missense_Mutation_p.A581V|ACACA_uc010cuz.2_Missense_Mutation_p.A544V	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	544	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCCTGCAGCAGCAACACTGAA	0.418													A	35614709	G	A	35614709	3	1	65	1	0	0	0	0	1	0	0	0	106	971	34	2	5581	2	ACACA	17	35614709	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	136312	35614709	45580501	862	47688											
CDK12	51755	broad.mit.edu	37	chr17	37687472	37687472	+	Frame_Shift_Del	DEL	G	G	-													ctcaggagcaggccttcactGggggggcccaactcagtctt							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:37687471_37687471TG>T	uc010cvv.3	+	13	4961	c.4375_4375TG>T	c.(4375-4377)tggfs	p.W1459fs	CDK12_uc002hrw.4_Frame_Shift_Del_p.W1450fs	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	1459					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGGCCTTCACTGGGGGGGCCC	0.557			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			-	37687472	G	-	37687472	7	5	65	1	0	1	0	1	0	0	0	0	3128	1357	47	0	4430	0	CDK12	17	37687472	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	2072763	37687472	43507738	863	47689											
PNMT	5409	broad.mit.edu	37	chr17	37826401	37826401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctggaccacatcaccaCgctgctgaggcctggggggc	15	15	1	1	rs111272760		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:37826401C>T	uc002hsi.1	+	3	830	c.608C>T	c.(607-609)ACG>ATG	p.T203M		NM_002686	NP_002677	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	203					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			ovary(1)	1	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CACATCACCACGCTGCTGAGG	0.672													T	37826401	C	T	37826401	3	4	65	1	0	0	0	0	1	0	0	0	12159	536	19	1	618	1	PNMT	17	37826401	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	138929	37826401	43368809	864	47690											
MED24	9862	broad.mit.edu	37	chr17	38183270	38183270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacctcagctcctgtgcgCgactcggacagaatcacctg	11	15	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:38183270C>T	uc002htt.2	-	17	1861	c.1548G>A	c.(1546-1548)TCG>TCA	p.S516S	MED24_uc010wes.1_Silent_p.S376S|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Silent_p.S541S|MED24_uc002htu.2_Silent_p.S503S|MED24_uc010cwn.2_Silent_p.S503S|MED24_uc010weu.1_Silent_p.S426S|MED24_uc010wev.1_Silent_p.S466S|MED24_uc010wew.1_Silent_p.S457S|MED24_uc010wex.1_Silent_p.S221S|SNORD124_uc010wey.1_5'Flank	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	516					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)					CTCCTGTGCGCGACTCGGACA	0.672											OREG0024386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	38183270	C	T	38183270	2	4	65	1	0	0	0	0	0	0	0	1	9442	755	27	1		1	MED24	17	38183270	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	356869	38183270	43011940	865	47691											
KRT16	3868	broad.mit.edu	37	chr17	39767342	39767342	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcaggaaccaggtctcAgcgtctctgcggtttttctc	10	12	4	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:39767342A>G	uc002hxg.3	-	4	1051	c.912T>C	c.(910-912)GCT>GCC	p.A304A	JUP_uc010wfs.1_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	304	Rod.|Coil 2.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			skin(1)	1		Breast(137;0.000307)				ACCAGGTCTCAGCGTCTCTGC	0.602													G	39767342	A	G	39767342	2	3	65	1	0	0	0	0	0	0	0	1	8453	175	7	3		3	KRT16	17	39767342	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	1584072	39767342	41427868	866	47692											
KCNH4	23415	broad.mit.edu	37	chr17	40328259	40328260	+	Frame_Shift_Ins	INS	-	-	C													ggaggaggaggcagcgagacINSccccccacggaggccacctt							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:40328258_40328259A>AC	uc002hzb.2	-	4	975_976	c.642_643T>GT	c.(640-645)gggtctfs	p.G214fs		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	214					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCAGCGAGACCCCCCCACGG	0.604													C	40328260	-	C	40328259	7	5	65	1	0	1	1	0	0	0	0	0	8034	494	18	0	2459	0	KCNH4	17	40328259	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	560917	40328259	40866951	867	47693											
LSM12	124801	broad.mit.edu	37	chr17	42141192	42141192	+	Frame_Shift_Del	DEL	G	G	-													actaacattgagtgaagctaGgggaggaggggtttctgttc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:42141191_42141191AG>A	uc002iev.3	-	2	559	c.236_236CT>T	c.(235-237)ctafs	p.L79fs	LSM12_uc010wit.2_Intron|LSM12_uc002iew.1_Non-coding_Transcript	NM_152344	NP_689557	Q3MHD2	LSM12_HUMAN	Homo sapiens LSM12 homolog (S. cerevisiae) (LSM12), mRNA.	79							protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	6		Breast(137;0.0313)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GAGTGAAGCTAGGGGAGGAGG	0.423													-	42141192	G	-	42141192	7	5	65	1	0	1	0	1	0	0	0	0	9053	991	35	0	368	0	LSM12	17	42141192	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	1812933	42141192	39054018	868	47694											
HDAC5	10014	broad.mit.edu	37	chr17	42165936	42165936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggccacacgttcacccGtcactagtggggactgcccg	13	14	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:42165936G>A	uc002ifd.1	-	12	1629	c.1418C>T	c.(1417-1419)ACG>ATG	p.T473M	HDAC5_uc002ife.1_Missense_Mutation_p.T473M|HDAC5_uc002iff.1_Missense_Mutation_p.T474M|HDAC5_uc010czp.1_Missense_Mutation_p.T473M|HDAC5_uc002ifh.2_Missense_Mutation_p.T473M	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	473					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		ACGTTCACCCGTCACTAGTGG	0.657													A	42165936	G	A	42165936	3	1	65	1	0	0	0	0	1	0	0	0	7010	1145	40	1	2014	1	HDAC5	17	42165936	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	24744	42165936	39029274	869	47695											
GPATCH8	23131	broad.mit.edu	37	chr17	42513884	42513884	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgcccatgacatcatactTgacaacgattggaatgggat	9	9	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:42513884T>C	uc002igw.1	-	4	287	c.223A>G	c.(223-225)AAG>GAG	p.K75E	GPATCH8_uc002igv.1_5'UTR|GPATCH8_uc010wiz.1_5'UTR	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	75	G-patch.					intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ACATCATACTTGACAACGATT	0.373													C	42513884	T	C	42513884	3	2	65	1	0	0	0	0	1	0	0	0	6594	1821	63	3	4305	3	GPATCH8	17	42513884	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	347948	42513884	38681326	870	47696											
FZD2	2535	broad.mit.edu	37	chr17	42635443	42635443	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctcatgaacaagttcggTtttcagtggcccgagcgcct	11	13	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:42635443T>C	uc002igx.1	+	1	519	c.387T>C	c.(385-387)GGT>GGC	p.G129G		NM_001466	NP_001457	Q14332	FZD2_HUMAN	frizzled 2 precursor	129	FZ.|Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ACAAGTTCGGTTTTCAGTGGC	0.692													C	42635443	T	C	42635443	2	2	65	1	0	0	0	0	0	0	0	1	6130	1712	60	3		3	FZD2	17	42635443	Silent	SNP	T	TCGA-BR-8081-01A-11D-2340-08	121559	42635443	38559767	871	47697											
PLCD3	113026	broad.mit.edu	37	chr17	43196222	43196222	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgaatgagctgctgggcGcgggccagtgtggcgccctc	17	12	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:43196222G>A	uc002iib.2	-	5	987	c.873C>T	c.(871-873)CGC>CGT	p.R291R		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	291					intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	GCTGCTGGGCGCGGGCCAGTG	0.423													A	43196222	G	A	43196222	2	1	65	1	0	0	0	0	0	0	0	1	12032	1074	38	1		1	PLCD3	17	43196222	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	560779	43196222	37998988	872	47698											
ACBD4	79777	broad.mit.edu	37	chr17	43221001	43221001	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgccctgagccttcctaGggtttagaagaacagcattc	10	11	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:43221001G>T	uc010wjj.1	+	12	1488	c.1019G>T	c.(1018-1020)AGG>ATG	p.R340M	ACBD4_uc002iie.2_Missense_Mutation_p.R340M|ACBD4_uc002iif.2_3'UTR|ACBD4_uc002iic.2_3'UTR|ACBD4_uc010dae.2_Missense_Mutation_p.R262M	NM_001135704	NP_001129176	Q8NC06	ACBD4_HUMAN	acyl-Coenzyme A binding domain containing 4	Error:Variant_position_missing_in_Q8NC06_after_alignment							fatty-acyl-CoA binding			ovary(1)|kidney(1)	2						AGCCTTCCTAGGGTTTAGAAG	0.547													T	43221001	G	T	43221001	3	4	65	1	0	0	0	0	1	0	0	0	124	1000	35	5	1085	5	ACBD4	17	43221001	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	24779	43221001	37974209	873	47699											
FMNL1	752	broad.mit.edu	37	chr17	43321564	43321564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgaatgccatcattgcaGcctcaatgtccatcaagtcc	6	13	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:43321564G>A	uc002iin.2	+	19	2670	c.2470G>A	c.(2470-2472)GCC>ACC	p.A824T	FMNL1_uc002iiq.2_Missense_Mutation_p.A402T|FMNL1_uc010dag.2_RNA	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	824	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						CATCATTGCAGCCTCAATGTC	0.582													A	43321564	G	A	43321564	3	1	65	1	0	0	0	0	1	0	0	0	5951	971	34	2	2544	2	FMNL1	17	43321564	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	100563	43321564	37873646	874	47700											
DLX3	1747	broad.mit.edu	37	chr17	48072218	48072218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggctggcccgagtagtaatCgtgctggggagcgctgtagt	18	8	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:48072218C>T	uc002ipy.2	-	1	371	c.145G>A	c.(145-147)GAT>AAT	p.D49N		NM_005220	NP_005211	O60479	DLX3_HUMAN	distal-less homeobox 3	49						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GAGTAGTAATCGTGCTGGGGA	0.607													T	48072218	C	T	48072218	3	4	65	1	0	0	0	0	1	0	0	0	4572	884	31	1	730	1	DLX3	17	48072218	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	4750654	48072218	33122992	875	47701											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602													-	48433967	C	-	48433967	7	5	65	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	361749	48433967	32761243	876	47702											
LPO	4025	broad.mit.edu	37	chr17	56329565	56329565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacccaatgaccccaaggCggggactcaagggaaatgca	11	14	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:56329565C>T	uc002ivt.2	+	8	1119	c.803C>T	c.(802-804)GCG>GTG	p.A268V	LPO_uc010wns.1_Missense_Mutation_p.A209V|LPO_uc010dcp.2_Missense_Mutation_p.A185V|LPO_uc010dcq.2_Intron|LPO_uc010dcr.2_5'UTR	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	268					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2						GACCCCAAGGCGGGGACTCAA	0.607													T	56329565	C	T	56329565	3	4	65	1	0	0	0	0	1	0	0	0	8922	768	27	1	829	1	LPO	17	56329565	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	7895598	56329565	24865645	877	47703											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	65	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	56819	56386384	24808826	878	47704											
RNF43	54894	broad.mit.edu	37	chr17	56435591	56435592	+	Frame_Shift_Ins	INS	-	-	C													atgtccactcgctggggatcINSccctttagggctgcagtaca							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:56435590_56435591T>TC	uc002iwf.3	-	7	3502_3503	c.1546_1547A>GA	c.(1546-1548)gatfs	p.D516fs	RNF43_uc010wnv.2_Frame_Shift_Ins_p.D475fs|RNF43_uc002iwh.4_Frame_Shift_Ins_p.D516fs|RNF43_uc002iwg.4_Frame_Shift_Ins_p.D516fs|RNF43_uc010dcw.3_Frame_Shift_Ins_p.D389fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	516						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCGCTGGGGATCCCCTTTAGGG	0.589													C	56435592	-	C	56435591	7	5	65	1	0	1	1	0	0	0	0	0	13495	855	30	0	813	0	RNF43	17	56435591	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	49207	56435591	24759619	879	47705											
MTMR4	9110	broad.mit.edu	37	chr17	56585898	56585898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccatccttgcaagctccGcctcctgtcgacaacgtatg	8	16	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:56585898G>A	uc002iwj.2	-	7	592	c.482C>T	c.(481-483)GCG>GTG	p.A161V		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	161	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCAAGCTCCGCCTCCTGTCG	0.542													A	56585898	G	A	56585898	3	1	65	1	0	0	0	0	1	0	0	0	9946	1087	38	1	3157	1	MTMR4	17	56585898	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	150307	56585898	24609312	880	47706											
DHX40	79665	broad.mit.edu	37	chr17	57679954	57679954	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagatgtctttgtgcgggCtatttcaaaaatgtagctcg	11	7	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:57679954C>T	uc002ixn.1	+	15	2025	c.1878C>T	c.(1876-1878)GGC>GGT	p.G626G	DHX40_uc010woe.1_Silent_p.G549G|DHX40_uc010wof.1_Silent_p.G141G	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	626							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTTGTGCGGGCTATTTCAAAA	0.328													T	57679954	C	T	57679954	2	4	65	1	0	0	0	0	0	0	0	1	4512	784	28	2		2	DHX40	17	57679954	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1094056	57679954	23515256	881	47707											
BCAS3	54828	broad.mit.edu	37	chr17	58786631	58786631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatagtactgggaatgaacCgcctttgttgattatgattg	10	6	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:58786631C>T	uc002iyv.3	+	5	375	c.266C>T	c.(265-267)CCG>CTG	p.P89L	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Missense_Mutation_p.P89L|BCAS3_uc002iyw.3_Missense_Mutation_p.P85L	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	89	WD 1.					nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GGGAATGAACCGCCTTTGTTG	0.368													T	58786631	C	T	58786631	3	4	65	1	0	0	0	0	1	0	0	0	1352	652	23	1	280	1	BCAS3	17	58786631	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1106677	58786631	22408579	882	47708											
ACE	1636	broad.mit.edu	37	chr17	61573866	61573866	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccagtccaaggaggccggGcagcgcctggcgtgagtgtc	16	12	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:61573866G>A	uc002jau.1	+	23	3514	c.3492G>A	c.(3490-3492)GGG>GGA	p.G1164G	ACE_uc002jav.1_Silent_p.G590G|ACE_uc010ddv.1_Silent_p.G391G|ACE_uc010wpj.1_Intron|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Intron	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	1164	Extracellular (Potential).|Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AGGAGGCCGGGCAGCGCCTGG	0.627													A	61573866	G	A	61573866	2	1	65	1	0	0	0	0	0	0	0	1	136	1190	42	2		2	ACE	17	61573866	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2787235	61573866	19621344	883	47709											
PSMD12	5718	broad.mit.edu	37	chr17	65353654	65353655	+	Frame_Shift_Del	DEL	AG	AG	-													cagtacgagtctgcttttccAgagagagaagggtttcaatg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:65353653_65353654CAG>C	uc002jfy.3	-	1	235_236	c.149_150CTG>G	c.(148-150)ctgfs	p.L50fs	PSMD12_uc002jga.3_Intron|PSMD12_uc002jfz.3_5'UTR|PSMD12_uc010det.1_Frame_Shift_Del_p.L50fs	NM_002816	NP_002807	O00232	PSD12_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 (PSMD12), transcript variant 1, mRNA.	50					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TCTGCTTTTCCAGAGAGAGAAG	0.327													-	65353655	AG	-	65353654	7	5	65	1	0	1	0	1	0	0	0	0	12695	188	7	0	1261	0	PSMD12	17	65353654	Frame_Shift_Del	DEL	AG	TCGA-BR-8081-01A-11D-2340-08	3779788	65353654	15841556	884	47710											
NOL11	25926	broad.mit.edu	37	chr17	65720271	65720271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttataaagagttttactgCatctgtagatcggaaattca	8	5	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:65720271C>T	uc002jgd.1	+	6	629	c.626C>T	c.(625-627)GCA>GTA	p.A209V	NOL11_uc010wql.1_Missense_Mutation_p.A27V|NOL11_uc010deu.1_5'UTR	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	209						nucleolus					0	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGTTTTACTGCATCTGTAGAT	0.303													T	65720271	C	T	65720271	3	4	65	1	0	0	0	0	1	0	0	0	10521	710	25	2	648	2	NOL11	17	65720271	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	366617	65720271	15474939	885	47711											
BPTF	2186	broad.mit.edu	37	chr17	65942195	65942195	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggttgtggctcagatacaGgctcagcaaagtggtgtgcc	14	9	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:65942195G>T	uc002jgf.2	+	21	7432	c.7371G>T	c.(7369-7371)CAG>CAT	p.Q2457H	BPTF_uc002jge.2_Intron|BPTF_uc002jgg.2_Intron|BPTF_uc002jgh.2_5'Flank	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2583					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTCAGATACAGGCTCAGCAAA	0.493													T	65942195	G	T	65942195	3	4	65	1	0	0	0	0	1	0	0	0	1495	991	35	5	7839	5	BPTF	17	65942195	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	221924	65942195	15253015	886	47712											
SOX9	6662	broad.mit.edu	37	chr17	70119910	70119910	+	Frame_Shift_Del	DEL	G	G	-													ctgccgcccaacggccacccGggggtgccggccacgcacgg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:70119909_70119909CG>C	uc002jiw.3	+	2	1283	c.911_911CG>C	c.(910-912)ccgfs	p.P304fs	AK094963_uc002jiv.3_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	304					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			AACGGCCACCCGGGGGTGCCG	0.682													-	70119910	G	-	70119910	7	5	65	1	0	1	0	1	0	0	0	0	14958	1103	39	0	922	0	SOX9	17	70119910	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	4177715	70119910	11075300	887	47713											
C17orf77	146723	broad.mit.edu	37	chr17	72588709	72588709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactgcctggaggagaggaCggacaaggccagccatgagg	16	10	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:72588709C>T	uc002jla.1	+	3	886	c.524C>T	c.(523-525)ACG>ATG	p.T175M	CD300LD_uc002jkz.2_5'Flank	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	hypothetical protein LOC146723	175						extracellular region					0						GAGGAGAGGACGGACAAGGCC	0.612													T	72588709	C	T	72588709	3	4	65	1	0	0	0	0	1	0	0	0	1882	536	19	1	526	1	C17orf77	17	72588709	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2468799	72588709	8606501	888	47714											
TMEM104	54868	broad.mit.edu	37	chr17	72791152	72791152	+	Splice_Site	DEL	G	G	-													atggctgtgttcctttcagtGggggtcaacttgttctattt							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:72791151_72791151TG>T	uc002jls.4	+	7	590	c.428_splice	c.e7-1	p.V143_splice	TMEM104_uc010wrf.1_Splice_Site_p.V143_splice|TMEM104_uc010wrg.1_Splice_Site_p.V156_splice|TMEM104_uc010dfx.3_Splice_Site_p.V143_splice	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	Homo sapiens transmembrane protein 104 (TMEM104), mRNA.	143						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TTCCTTTCAGTGGGGGTCAAC	0.463													-	72791152	G	-	72791152	8	5	65	1	0	1	0	1	0	0	1	0	16015	1362	47	0	451	0	TMEM104	17	72791152	Splice_Site	DEL	G	TCGA-BR-8081-01A-11D-2340-08	202443	72791152	8404058	889	47715											
GGA3	23163	broad.mit.edu	37	chr17	73235131	73235131	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaggatgcggaagccgTttttatcgtaggctgtcaca	14	7	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:73235131T>G	uc002jni.1	-	15	1823	c.1814A>C	c.(1813-1815)AAC>ACC	p.N605T	GGA3_uc002jnj.1_Missense_Mutation_p.N572T|GGA3_uc010wrw.1_Missense_Mutation_p.N483T|GGA3_uc002jnk.1_Missense_Mutation_p.N533T|GGA3_uc010wrx.1_Missense_Mutation_p.N483T|GGA3_uc010wry.1_Missense_Mutation_p.N533T	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	605	GAE.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GCGGAAGCCGTTTTTATCGTA	0.592											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	73235131	T	G	73235131	3	3	65	1	0	0	0	0	1	0	0	0	6354	1725	60	5	457	5	GGA3	17	73235131	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	443979	73235131	7960079	890	47716											
GGA3	23163	broad.mit.edu	37	chr17	73237561	73237561	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgttttgtaagagttgatgAcccgggagaggttgtcactg	14	5	1	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:73237561A>G	uc002jni.1	-	10	875	c.866T>C	c.(865-867)GTC>GCC	p.V289A	GGA3_uc002jnj.1_Missense_Mutation_p.V256A|GGA3_uc010wrw.1_Missense_Mutation_p.V167A|GGA3_uc002jnk.1_Missense_Mutation_p.V217A|GGA3_uc010wrx.1_Missense_Mutation_p.V167A|GGA3_uc010wry.1_Missense_Mutation_p.V217A	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	289	GAT.|Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			AGAGTTGATGACCCGGGAGAG	0.522													G	73237561	A	G	73237561	3	3	65	1	0	0	0	0	1	0	0	0	6354	275	10	3	1425	3	GGA3	17	73237561	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	2430	73237561	7957649	891	47717											
TSEN54	283989	broad.mit.edu	37	chr17	73518266	73518266	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaggaagatgtcaacgcCgatcccgaggtgcagcggtg	14	11	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:73518266C>T	uc002jof.1	+	8	1137	c.1104C>T	c.(1102-1104)GCC>GCT	p.A368A		NM_207346	NP_997229	Q7Z6J9	SEN54_HUMAN	tRNA splicing endonuclease 54 homolog	368					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATGTCAACGCCGATCCCGAGG	0.682													T	73518266	C	T	73518266	2	4	65	1	0	0	0	0	0	0	0	1	16611	639	23	1		1	TSEN54	17	73518266	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	280705	73518266	7676944	892	47718											
ITGB4	3691	broad.mit.edu	37	chr17	73748326	73748326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctgcttattgagaaccttCgggagtcccagccctaccgc	10	14	0	1	rs34092482		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:73748326C>T	uc002jpg.2	+	31	4052	c.3865C>T	c.(3865-3867)CGG>TGG	p.R1289W	ITGB4_uc002jph.2_Missense_Mutation_p.R1289W|ITGB4_uc002jpi.3_Missense_Mutation_p.R1289W|ITGB4_uc002jpj.2_Missense_Mutation_p.R1289W|GALK1_uc010wsi.1_Intron	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1289	Fibronectin type-III 2.|Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGAGAACCTTCGGGAGTCCCA	0.617													T	73748326	C	T	73748326	3	4	65	1	0	0	0	0	1	0	0	0	7897	875	31	1	3983	1	ITGB4	17	73748326	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	230060	73748326	7446884	893	47719											
FBF1	85302	broad.mit.edu	37	chr17	73922938	73922938	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcataggagagaagtcCtctcaatgggtcttccaagt	9	9	4	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:73922938C>A	uc002jqc.2	-	9	728	c.454G>T	c.(454-456)GGA>TGA	p.G152*	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Nonsense_Mutation_p.G142*|FBF1_uc002jqd.1_Nonsense_Mutation_p.G152*	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	152											0						GAGAGAAGTCCTCTCAATGGG	0.522													A	73922938	C	A	73922938	4	1	65	1	0	0	0	0	0	1	0	0	5695	690	24	5	3031	5	FBF1	17	73922938	Nonsense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	174612	73922938	7272272	894	47720											
EVPL	2125	broad.mit.edu	37	chr17	74004912	74004914	+	In_Frame_Del	DEL	CTC	CTC	-													acttcctccatgatgatcttCtcctgcaccgtgggaggccg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:74004911_74004913TCTC>T	uc010wss.1	-	21	4667_4669	c.4439_4441GAGA>A	c.(4438-4443)gagaag>gAag	p.K1481del	EVPL_uc002jqi.2_In_Frame_Del_p.K1459del|EVPL_uc010wst.1_In_Frame_Del_p.K929del	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1459	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						ATGATGATCTTCTCCTGCACCGT	0.626													-	74004914	CTC	-	74004912	7	5	65	1	0	1	0	1	0	0	0	0	5292	912	32	0	1731	0	EVPL	17	74004912	In_Frame_Del	DEL	CTC	TCGA-BR-8081-01A-11D-2340-08	81974	74004912	7190298	895	47721											
GALR2	8811	broad.mit.edu	37	chr17	74071298	74071298	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctcaccatgcacgccAgcagcttcacgctggccgcc	8	19	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:74071298A>G	uc002jqm.1	+	1	415	c.334A>G	c.(334-336)AGC>GGC	p.S112G	SRP68_uc010wsu.1_5'Flank|SRP68_uc002jqk.1_5'Flank|SRP68_uc002jql.1_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	112	Helical; Name=3; (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0						CATGCACGCCAGCAGCTTCAC	0.677													G	74071298	A	G	74071298	3	3	65	1	0	0	0	0	1	0	0	0	6228	188	7	3	336	3	GALR2	17	74071298	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	66386	74071298	7123912	896	47722											
RHBDF2	79651	broad.mit.edu	37	chr17	74475291	74475291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgctgcagtggtgcaggCtgcggcgctgccactgctgc	16	13	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:74475291C>T	uc002jrq.1	-	5	721	c.428G>A	c.(427-429)AGC>AAC	p.S143N	RHBDF2_uc002jrp.1_Missense_Mutation_p.S114N|RHBDF2_uc002jrr.1_5'UTR|RHBDF2_uc010wtf.1_Missense_Mutation_p.S114N|RHBDF2_uc002jrs.1_Missense_Mutation_p.S114N	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	rhomboid, veinlet-like 6 isoform 1	143	Cytoplasmic (Potential).				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity				0						GTGGTGCAGGCTGCGGCGCTG	0.692													T	74475291	C	T	74475291	3	4	65	1	0	0	0	0	1	0	0	0	13320	797	28	2	2202	2	RHBDF2	17	74475291	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	403993	74475291	6719919	897	47723											
TMC8	147138	broad.mit.edu	37	chr17	76137013	76137013	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccaagtaccctgcctcccaAgcttcgcgcccgcagtcctt	7	20	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:76137013A>T	uc002jup.2	+	16	2383	c.2001A>T	c.(1999-2001)CAA>CAT	p.Q667H	TMC8_uc002juq.2_Missense_Mutation_p.Q444H	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	667	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CTGCCTCCCAAGCTTCGCGCC	0.731									Epidermodysplasia_Verruciformis_Familial_Clustering_of				T	76137013	A	T	76137013	3	4	65	1	0	0	0	0	1	0	0	0	15988	69	3	5	2059	5	TMC8	17	76137013	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	1661722	76137013	5058197	898	47724											
LGALS3BP	3959	broad.mit.edu	37	chr17	76970808	76970808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtctctctcgtgcctgCagttgctcttcagccagccc	9	17	4	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:76970808C>T	uc002jwh.2	-	4	517	c.338G>A	c.(337-339)TGC>TAC	p.C113Y	LGALS3BP_uc002jwi.2_Intron|LGALS3BP_uc010dhr.2_Intron	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	galectin 3 binding protein	113	SRCR.				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			central_nervous_system(3)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CTCGTGCCTGCAGTTGCTCTT	0.672													T	76970808	C	T	76970808	3	4	65	1	0	0	0	0	1	0	0	0	8744	710	25	2	1431	2	LGALS3BP	17	76970808	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	833795	76970808	4224402	899	47725											
RNF213	57674	broad.mit.edu	37	chr17	78345759	78345759	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagataaaactgaactgTacatgctcttcatcaactgc	6	10	3	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:78345759T>C	uc002jyh.1	+	22	6953	c.6730T>C	c.(6730-6732)TAC>CAC	p.Y2244H	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.Y626H	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AACTGAACTGTACATGCTCTT	0.333													C	78345759	T	C	78345759	3	2	65	1	0	0	0	0	1	0	0	0	13477	1638	57	3	13012	3	RNF213	17	78345759	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	1374951	78345759	2849451	900	47726											
CCDC57	284001	broad.mit.edu	37	chr17	80141781	80141782	+	Frame_Shift_Ins	INS	-	-	T													tttgagcatcccaggcagatINStttacagttgatgcatcttc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:80141780_80141781A>AT	uc002kdx.1	-	7	1117_1118	c.1080_1081T>AT	c.(1078-1083)aaatctfs	p.K360fs	CCDC57_uc010dik.1_5'UTR|CCDC57_uc002kdz.1_Frame_Shift_Ins_p.K360fs	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	Homo sapiens coiled-coil domain containing 57 (CCDC57), mRNA.	360										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TCCCAGGCAGATTTTACAGTTG	0.455													T	80141782	-	T	80141781	7	5	65	1	0	1	1	0	0	0	0	0	2827	1490	52	0	1707	0	CCDC57	17	80141781	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	1796022	80141781	1053429	901	47727											
SMCHD1	23347	broad.mit.edu	37	chr18	2700849	2700849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagcacaaataaattgaCgtttatggatcttgagctaa	9	6	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:2700849C>T	uc002klm.3	+	12	1769	c.1580C>T	c.(1579-1581)ACG>ATG	p.T527M	SMCHD1_uc002klk.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	527					chromosome organization		ATP binding				0						AATAAATTGACGTTTATGGAT	0.328													T	2700849	C	T	2700849	3	4	65	1	0	0	0	0	1	0	0	0	14788	536	19	1	1626	1	SMCHD1	18	2700849	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08		2700849	75376399	902	47728											
SMCHD1	23347	broad.mit.edu	37	chr18	2706440	2706440	+	Frame_Shift_Del	DEL	A	A	-													cagttgctgagaaagctgttAaaaaatatgtagaagatgaa							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:2706440delA	uc002klm.3	+	15	2224	c.2035delA	c.(2035-2037)AAAfs	p.K679fs	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	679					chromosome organization		ATP binding				0						GAAAGCTGTTAAAAAATATGT	0.353													-	2706440	A	-	2706440	7	5	65	1	0	1	0	1	0	0	0	0	14788	363	13	0	2093	0	SMCHD1	18	2706440	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	5591	2706440	75370808	903	47729											
DLGAP1	9229	broad.mit.edu	37	chr18	3879724	3879724	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagggtgtgatagccatcGcggctgagtggcagctgccg	17	10	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:3879724G>A	uc002kmf.2	-	1	412	c.345C>T	c.(343-345)CGC>CGT	p.R115R	DLGAP1_uc010wyz.1_Silent_p.R115R|DLGAP1_uc002kmk.2_Silent_p.R115R|uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	115					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				GATAGCCATCGCGGCTGAGTG	0.687													A	3879724	G	A	3879724	2	1	65	1	0	0	0	0	0	0	0	1	4559	1074	38	1		1	DLGAP1	18	3879724	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1173284	3879724	74197524	904	47730											
SEH1L	81929	broad.mit.edu	37	chr18	12951893	12951893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgattggcattgtactGctagctggaaggttagtatt	14	4	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:12951893G>A	uc002krr.2	+	2	289	c.151G>A	c.(151-153)GCT>ACT	p.A51T	SEH1L_uc002krq.2_Missense_Mutation_p.A51T	NM_031216	NP_112493	Q96EE3	SEH1_HUMAN	sec13-like protein isoform 2	51					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex					0						GCATTGTACTGCTAGCTGGAA	0.249													A	12951893	G	A	12951893	3	1	65	1	0	0	0	0	1	0	0	0	14009	1319	46	2	157	2	SEH1L	18	12951893	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	9072169	12951893	65125355	905	47731											
ZNF521	25925	broad.mit.edu	37	chr18	22806905	22806905	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgactgtccatgtggctgTacagttcctcaactgtgtgg	13	9	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:22806905T>C	uc002kvk.2	-	4	1224	c.977A>G	c.(976-978)TAC>TGC	p.Y326C	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.Y326C|ZNF521_uc002kvl.2_Missense_Mutation_p.Y106C	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	326	C2H2-type 8.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CATGTGGCTGTACAGTTCCTC	0.537			T	PAX5	ALL								C	22806905	T	C	22806905	3	2	65	1	0	0	0	0	1	0	0	0	17962	1638	57	3	2978	3	ZNF521	18	22806905	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	9855012	22806905	55270343	906	47732											
GALNT1	2589	broad.mit.edu	37	chr18	33243730	33243730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggcaagtgagatgattgCactcaacagatctttaccag	9	8	2	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:33243730C>T	uc010dmu.2	+	3	331	c.278C>T	c.(277-279)GCA>GTA	p.A93V	GALNT1_uc002kyz.3_Missense_Mutation_p.A33V|GALNT1_uc002kza.2_Missense_Mutation_p.A93V|GALNT1_uc002kzb.2_Missense_Mutation_p.A93V	NM_020474	NP_065207	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	93	Lumenal (Potential).				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						GAGATGATTGCACTCAACAGA	0.343													T	33243730	C	T	33243730	3	4	65	1	0	0	0	0	1	0	0	0	6207	710	25	2	284	2	GALNT1	18	33243730	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	10436825	33243730	44833518	907	47733											
SLC14A2	8170	broad.mit.edu	37	chr18	43253755	43253755	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttctacgtcatcacctggCagacgcacctcctcgccatc	7	17	3	1	rs151319242		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:43253755C>T	uc010dnj.2	+	19	2806	c.2485C>T	c.(2485-2487)CAG>TAG	p.Q829*	SLC14A2_uc002lbe.2_Nonsense_Mutation_p.Q829*	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	829						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						CATCACCTGGCAGACGCACCT	0.478													T	43253755	C	T	43253755	4	4	65	1	0	0	0	0	0	1	0	0	14397	711	25	2	2551	2	SLC14A2	18	43253755	Nonsense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	10010025	43253755	34823493	908	47734											
C18orf25	147339	broad.mit.edu	37	chr18	43795786	43795786	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttgtacaggttgctttcCtgttgcatctttgatatcat	7	7	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:43795786C>A	uc002lbw.2	+	2	319	c.-60C>A	c.(-62--58)TCCTG>TCATG		C18orf25_uc002lbx.2_Translation_Start_Site	NM_145055	NP_659492	Q96B23	CR025_HUMAN	ARKadia-like 1 isoform a											central_nervous_system(2)	2						GGTTGCTTTCCTGTTGCATCT	0.383													A	43795786	C	A	43795786	1	1	65	1	0	0	0	0	0	0	0	0	1899	696	24	5		5	C18orf25	18	43795786	Translation_Start_Site	SNP	C	TCGA-BR-8081-01A-11D-2340-08	542031	43795786	34281462	909	47735											
DCC	1630	broad.mit.edu	37	chr18	50936877	50936877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaattgatgactggattatGgaaacaatcagtggtgatag	11	5	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:50936877G>A	uc002lfe.1	+	20	3578	c.2991G>A	c.(2989-2991)ATG>ATA	p.M997I	DCC_uc010xdr.1_Missense_Mutation_p.M825I|DCC_uc010dpf.1_Missense_Mutation_p.M632I	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	997	Extracellular (Potential).|Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACTGGATTATGGAAACAATCA	0.363													A	50936877	G	A	50936877	3	1	65	1	0	0	0	0	1	0	0	0	4282	1348	47	4	3069	4	DCC	18	50936877	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	7141091	50936877	27140371	910	47736											
LMAN1	3998	broad.mit.edu	37	chr18	57013285	57013285	+	Splice_Site	DEL	T	T	-													tttctttatctggtgtgggcTtttttttggagttttggaat							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:57013284_57013284CT>C	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CTGGTGTGGGCTTTTTTTTGG	0.294													-	57013285	T	-	57013285	8	5	65	1	0	1	0	1	0	0	1	0	8836	1623	56	0	735	0	LMAN1	18	57013285	Splice_Site	DEL	T	TCGA-BR-8081-01A-11D-2340-08	6076408	57013285	21063963	911	47737											
SERPINB4	6318	broad.mit.edu	37	chr18	61306894	61306894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccaaaatttttcctcttTagtgttttcttttttaaatt	4	6	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:61306894T>C	uc002ljf.2	-	6	672	c.586A>G	c.(586-588)AAA>GAA	p.K196E	SERPINB4_uc002lje.2_Missense_Mutation_p.K196E|SERPINB4_uc002ljg.2_Intron	NM_002974	NP_002965	P48594	SPB4_HUMAN	serine (or cysteine) proteinase inhibitor, clade	196					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3						TTTTCCTCTTTAGTGTTTTCT	0.308													C	61306894	T	C	61306894	3	2	65	1	0	0	0	0	1	0	0	0	14103	1763	61	3	598	3	SERPINB4	18	61306894	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	4293609	61306894	16770354	912	47738											
CDH7	1005	broad.mit.edu	37	chr18	63547708	63547708	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttgacgaagaaagagacAtcagagaaaatattgtgaga	10	3	1	5			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:63547708A>G	uc002ljz.2	+	12	2261	c.1936A>G	c.(1936-1938)ATC>GTC	p.I646V	CDH7_uc002lkb.2_Missense_Mutation_p.I646V	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	646	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				AGAAAGAGACATCAGAGAAAA	0.453													G	63547708	A	G	63547708	3	3	65	1	0	0	0	0	1	0	0	0	3115	217	8	3	1978	3	CDH7	18	63547708	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	2240814	63547708	14529540	913	47739											
CDH19	28513	broad.mit.edu	37	chr18	64235727	64235727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttcattgtcattgatatccGaaactttgatgacaaactca	6	8	3	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:64235727G>A	uc002lkc.1	-	3	554	c.416C>T	c.(415-417)TCG>TTG	p.S139L	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.S139L|CDH19_uc002lkd.2_Missense_Mutation_p.S139L	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	139	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				ATTGATATCCGAAACTTTGAT	0.418													A	64235727	G	A	64235727	3	1	65	1	0	0	0	0	1	0	0	0	3104	1059	37	1	1942	1	CDH19	18	64235727	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	688019	64235727	13841521	914	47740											
NETO1	81832	broad.mit.edu	37	chr18	70450955	70450955	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catctgaaatcggctgtttcGactgccctcatctgcccaca	7	15	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:70450955G>A	uc002lkw.2	-	7	1110	c.826C>T	c.(826-828)CGA>TGA	p.R276*	NETO1_uc002lkx.1_Nonsense_Mutation_p.R275*|NETO1_uc002lky.1_Nonsense_Mutation_p.R276*	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	276	CUB 2.|Extracellular (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CGGCTGTTTCGACTGCCCTCA	0.468													A	70450955	G	A	70450955	4	1	65	1	0	0	0	0	0	1	0	0	10339	1066	37	1	791	1	NETO1	18	70450955	Nonsense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	6215228	70450955	7626293	915	47741											
MBP	4155	broad.mit.edu	37	chr18	74729219	74729219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgttctggttcgcatctgCctctcctgcaaacaacaatg	7	12	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:74729219C>T	uc010xfd.1	-	4	409	c.145G>A	c.(145-147)GCA>ACA	p.A49T	MBP_uc002lml.2_5'Flank|MBP_uc002lmn.2_5'Flank|MBP_uc002lmp.2_5'Flank|MBP_uc010xfe.1_5'UTR|MBP_uc002lmr.2_Missense_Mutation_p.A49T	NM_001025101	NP_001020272	P02686	MBP_HUMAN	Golli-mbp isoform 1	49					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			haematopoietic_and_lymphoid_tissue(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		TTCGCATCTGCCTCTCCTGCA	0.562													T	74729219	C	T	74729219	3	4	65	1	0	0	0	0	1	0	0	0	9359	739	26	2	893	2	MBP	18	74729219	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	4278264	74729219	3348029	916	47742											
MIER2	54531	broad.mit.edu	37	chr19	327209	327209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcgtcagcagatgattgCgtctcttcctcttcttcccc	8	14	4	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:327209C>T	uc002lok.1	-	5	426	c.417G>A	c.(415-417)ACG>ACA	p.T139T		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGATGATTGCGTCTCTTCCT	0.463													T	327209	C	T	327209	2	4	65	1	0	0	0	0	0	0	0	1	9581	755	27	1		1	MIER2	19	327209	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08		327209	58801774	917	47743											
GNA11	2767	broad.mit.edu	37	chr19	3119273	3119273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggttccagaactcctccGtcatcctcttcctcaacaag	5	17	3	1	rs144829732		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:3119273G>A	uc002lxd.2	+	6	1047	c.805G>A	c.(805-807)GTC>ATC	p.V269I	uc010xhe.1_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein),	269					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			eye(70)|skin(16)	86		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GAACTCCTCCGTCATCCTCTT	0.597			Mis		uveal melanoma								A	3119273	G	A	3119273	3	1	65	1	0	0	0	0	1	0	0	0	6499	1145	40	1	827	1	GNA11	19	3119273	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2792064	3119273	56009710	918	47744											
TJP3	27134	broad.mit.edu	37	chr19	3748014	3748014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcccggtcctcggagcccGtgcaggcagatgagtcccag	15	14	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:3748014G>A	uc010xhv.1	+	18	2644	c.2644G>A	c.(2644-2646)GTG>ATG	p.V882M	TJP3_uc010xhs.1_Missense_Mutation_p.V849M|TJP3_uc010xht.1_Missense_Mutation_p.V813M|TJP3_uc010xhu.1_Missense_Mutation_p.V858M|TJP3_uc010xhw.1_Missense_Mutation_p.V868M	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	863						tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCGGAGCCCGTGCAGGCAGA	0.692													A	3748014	G	A	3748014	3	1	65	1	0	0	0	0	1	0	0	0	15928	1145	40	1	2714	1	TJP3	19	3748014	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	628741	3748014	55380969	919	47745											
MAP2K2	5605	broad.mit.edu	37	chr19	4117450	4117450	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaggcccgagggtctgtgCtggactttggtgaccacccc	14	12	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:4117450C>T	uc002lzk.2	-	2	524	c.270G>A	c.(268-270)CAG>CAA	p.Q90Q		NM_030662	NP_109587	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	90	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGTCTGTGCTGGACTTTGG	0.632									Cardiofaciocutaneous_syndrome				T	4117450	C	T	4117450	2	4	65	1	0	0	0	0	0	0	0	1	9237	796	28	2		2	MAP2K2	19	4117450	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	369436	4117450	55011533	920	47746											
MPND	84954	broad.mit.edu	37	chr19	4357406	4357406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcttccagccctgcctcGccctgctctgctgtacgcgg	11	17	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:4357406G>A	uc002mae.2	+	9	1220	c.1153G>A	c.(1153-1155)GCC>ACC	p.A385T	MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Missense_Mutation_p.A335T|MPND_uc002maf.2_Missense_Mutation_p.A385T|MPND_uc002mah.2_Missense_Mutation_p.A273T|MPND_uc002mai.2_Missense_Mutation_p.A244T	NM_032868	NP_116257	Q8N594	MPND_HUMAN	MPN domain containing isoform 1	385							peptidase activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCTGCCTCGCCCTGCTCTG	0.692													A	4357406	G	A	4357406	3	1	65	1	0	0	0	0	1	0	0	0	9731	1087	38	1	1187	1	MPND	19	4357406	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	239956	4357406	54771577	921	47747											
C3	718	broad.mit.edu	37	chr19	6680187	6680187	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccaggttgtaataggcgtAgaccttgactgctccaggct	11	11	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:6680187A>G	uc002mfm.2	-	36	4500	c.4438T>C	c.(4438-4440)TAC>CAC	p.Y1480H	C3_uc002mfl.2_Missense_Mutation_p.Y216H	NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	1480					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TAATAGGCGTAGACCTTGACT	0.512													G	6680187	A	G	6680187	3	3	65	1	0	0	0	0	1	0	0	0	2204	420	15	3	577	3	C3	19	6680187	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	2322781	6680187	52448796	922	47748											
LRRC8E	80131	broad.mit.edu	37	chr19	7964276	7964276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcctgtagggtggagaCgtcagaggtcacgggctacg	19	8	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:7964276C>T	uc002mir.2	+	3	970	c.869C>T	c.(868-870)ACG>ATG	p.T290M		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	290						integral to membrane				lung(1)|pancreas(1)	2						AGGGTGGAGACGTCAGAGGTC	0.547													T	7964276	C	T	7964276	3	4	65	1	0	0	0	0	1	0	0	0	9025	536	19	1	875	1	LRRC8E	19	7964276	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1284089	7964276	51164707	923	47749											
ACTL9	284382	broad.mit.edu	37	chr19	8808894	8808894	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgtgcccatgtcaataAccaccacgccggtctttggt	9	14	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:8808894A>T	uc002mkl.2	-	1	279	c.158T>A	c.(157-159)GTT>GAT	p.V53D		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	53						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						CATGTCAATAACCACCACGCC	0.647													T	8808894	A	T	8808894	3	4	65	1	0	0	0	0	1	0	0	0	203	43	2	5	1096	5	ACTL9	19	8808894	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	844618	8808894	50320089	924	47750											
MUC16	94025	broad.mit.edu	37	chr19	9060506	9060506	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagcaggtatggttgtAgaaacaatgtcttttatggt	13	3	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:9060506A>G	uc002mkp.2	-	3	27144	c.26940T>C	c.(26938-26940)TCT>TCC	p.S8980S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8982	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTATGGTTGTAGAAACAATGT	0.498													G	9060506	A	G	9060506	2	3	65	1	0	0	0	0	0	0	0	1	9973	407	15	3		3	MUC16	19	9060506	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	251612	9060506	50068477	925	47751											
YIPF2	78992	broad.mit.edu	37	chr19	11038348	11038348	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagctctgatagtagctgaaGgtccagaatcccggctgctg	12	10	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:11038348G>T	uc002mqb.2	-	4	361	c.237C>A	c.(235-237)ACC>ACA	p.T79T	YIPF2_uc002mqc.2_Silent_p.T79T|C19orf52_uc002mqd.1_5'Flank	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	79	Cytoplasmic (Potential).					integral to membrane|transport vesicle					0						AGTAGCTGAAGGTCCAGAATC	0.527													T	11038348	G	T	11038348	2	4	65	1	0	0	0	0	0	0	0	1	17475	987	35	5		5	YIPF2	19	11038348	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1977842	11038348	48090635	926	47752											
SMARCA4	6597	broad.mit.edu	37	chr19	11138595	11138595	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatggaagattactttgcGtatcgcggctttaaatacct	8	8	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:11138595G>A	uc002mqf.3	+	24	3635	c.3351G>A	c.(3349-3351)GCG>GCA	p.A1117A	SMARCA4_uc010dxp.2_Silent_p.A1117A|SMARCA4_uc010dxo.2_Silent_p.A1117A|SMARCA4_uc002mqg.1_Silent_p.A1117A|SMARCA4_uc010dxq.2_Silent_p.A1117A|SMARCA4_uc010dxr.2_Silent_p.A1117A|SMARCA4_uc002mqj.3_Silent_p.A1117A|SMARCA4_uc010dxs.2_Silent_p.A1117A|SMARCA4_uc010dxt.1_Silent_p.A337A|SMARCA4_uc002mqh.3_Silent_p.A240A|SMARCA4_uc002mqi.1_Silent_p.A320A	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1117	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(2)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ATTACTTTGCGTATCGCGGCT	0.473			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				A	11138595	G	A	11138595	2	1	65	1	0	0	0	0	0	0	0	1	14770	1132	40	1		1	SMARCA4	19	11138595	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	100247	11138595	47990388	927	47753											
KANK2	25959	broad.mit.edu	37	chr19	11280823	11280823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatgagggccgtggagccGtcatcatcttgcacgttgac	12	12	3	2	rs146928170		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:11280823G>A	uc010dxv.2	-	13	2871	c.2313C>T	c.(2311-2313)GAC>GAT	p.D771D	KANK2_uc002mqm.2_Silent_p.D779D|KANK2_uc002mqo.3_Silent_p.D771D|KANK2_uc002mqp.1_Silent_p.D580D	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1	771	ANK 4.										0						CCGTGGAGCCGTCATCATCTT	0.647													A	11280823	G	A	11280823	2	1	65	1	0	0	0	0	0	0	0	1	7977	1136	40	1		1	KANK2	19	11280823	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	142228	11280823	47848160	928	47754											
ZNF709	163051	broad.mit.edu	37	chr19	12638030	12638031	+	Frame_Shift_Del	DEL	TT	TT	-													agtgtgcctaatcatatgacTttgaaaatttgtgaaagaaa							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:12638029_12638030CTT>C	uc002mty.3	-	3	1102_1103	c.892_893AAG>G	c.(892-894)agtfs	p.S298fs	ZNF709_uc002mtx.4_Intron	NM_144976	NP_659413	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 564 (ZNF564), mRNA.	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						AATCATATGACTTTGAAAATTT	0.381													-	12638031	TT	-	12638030	7	5	65	1	0	1	0	1	0	0	0	0	18110	1609	56	0		0	ZNF709	19	12638030	Frame_Shift_Del	DEL	TT	TCGA-BR-8081-01A-11D-2340-08	1357207	12638030	46490953	929	47755											
MAN2B1	4125	broad.mit.edu	37	chr19	12774530	12774530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctaccagtgaagaggtcCgcggtcgggggcttcaggct	15	13	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:12774530C>T	uc002mub.2	-	5	826	c.750G>A	c.(748-750)GCG>GCA	p.A250A	MAN2B1_uc010dyv.1_Silent_p.A250A	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	250					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						TGAAGAGGTCCGCGGTCGGGG	0.443													T	12774530	C	T	12774530	2	4	65	1	0	0	0	0	0	0	0	1	9216	639	23	1		1	MAN2B1	19	12774530	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	136500	12774530	46354453	930	47756											
MAST1	22983	broad.mit.edu	37	chr19	12985409	12985409	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccccggggccgggagcgcTgggtgttggaggtggtggag	22	10	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:12985409T>C	uc002mvm.2	+	26	4566	c.4438T>C	c.(4438-4440)TGG>CGG	p.W1480R		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1480					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CCGGGAGCGCTGGGTGTTGGA	0.731													C	12985409	T	C	12985409	3	2	65	1	0	0	0	0	1	0	0	0	9324	1580	55	3	4540	3	MAST1	19	12985409	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	210879	12985409	46143574	931	47757											
PRKACA	5566	broad.mit.edu	37	chr19	14211688	14211688	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatctccccgccgggcacGtactccatgaccatgtataa	7	15	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:14211688G>A	uc002myc.2	-	5	569	c.369C>T	c.(367-369)TAC>TAT	p.Y123Y	PRKACA_uc002myb.2_Silent_p.Y115Y|PRKACA_uc010xnm.1_Silent_p.Y65Y|PRKACA_uc002myd.2_Silent_p.Y65Y	NM_002730	NP_002721	P17612	KAPCA_HUMAN	cAMP-dependent protein kinase catalytic subunit	123	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			lung(1)	1						CGCCGGGCACGTACTCCATGA	0.602													A	14211688	G	A	14211688	2	1	65	1	0	0	0	0	0	0	0	1	12497	1140	40	1		1	PRKACA	19	14211688	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1226279	14211688	44917295	932	47758											
PKN1	5585	broad.mit.edu	37	chr19	14574680	14574680	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggcagatgaacatcgatgtCgccacgtgggtgcggctgct	15	10	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:14574680C>T	uc002myp.2	+	11	1704	c.1536C>T	c.(1534-1536)GTC>GTT	p.V512V	PKN1_uc002myq.2_Silent_p.V518V	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	512					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						ACATCGATGTCGCCACGTGGG	0.682													T	14574680	C	T	14574680	2	4	65	1	0	0	0	0	0	0	0	1	11979	871	31	1		1	PKN1	19	14574680	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	362992	14574680	44554303	933	47759											
EMR2	30817	broad.mit.edu	37	chr19	14854579	14854579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgaacagctgagctgtcGctttaaatgccagcatcctg	11	10	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:14854579G>A	uc002mzp.1	-	19	2657	c.2201C>T	c.(2200-2202)GCG>GTG	p.A734V	EMR2_uc010dzs.1_Missense_Mutation_p.A193V|EMR2_uc010xnw.1_Missense_Mutation_p.A676V|EMR2_uc002mzo.1_Missense_Mutation_p.A723V|EMR2_uc002mzq.1_Missense_Mutation_p.A674V|EMR2_uc002mzr.1_Missense_Mutation_p.A685V|EMR2_uc002mzs.1_Missense_Mutation_p.A592V|EMR2_uc002mzt.1_Missense_Mutation_p.A630V|EMR2_uc002mzu.1_Missense_Mutation_p.A641V|EMR2_uc010xnx.1_RNA	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	734	Cytoplasmic (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4						CTGAGCTGTCGCTTTAAATGC	0.547													A	14854579	G	A	14854579	3	1	65	1	0	0	0	0	1	0	0	0	5105	1087	38	1	282	1	EMR2	19	14854579	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	279899	14854579	44274404	934	47760											
SLC1A6	6511	broad.mit.edu	37	chr19	15079275	15079275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtagtacacagctgcccGcatccccatccgccccgtgg	9	18	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:15079275G>A	uc002naa.1	-	3	396	c.388C>T	c.(388-390)CGG>TGG	p.R130W	SLC1A6_uc010dzu.1_Missense_Mutation_p.R130W|SLC1A6_uc010xod.1_Intron|SLC1A6_uc002nab.2_Missense_Mutation_p.R130W|SLC1A6_uc002nac.2_Missense_Mutation_p.R130W|SLC1A6_uc002nad.1_Missense_Mutation_p.R130W	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	130					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	ACAGCTGCCCGCATCCCCATC	0.607													A	15079275	G	A	15079275	3	1	65	1	0	0	0	0	1	0	0	0	14436	1086	38	1	1334	1	SLC1A6	19	15079275	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	224696	15079275	44049708	935	47761											
BRD4	23476	broad.mit.edu	37	chr19	15383721	15383721	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccactctgagcaggtattGcagttggttggtctgcctct	11	11	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:15383721G>A	uc002nar.2	-	2	412	c.190C>T	c.(190-192)CAA>TAA	p.Q64*	BRD4_uc002nas.2_Nonsense_Mutation_p.Q64*|BRD4_uc002nat.3_Nonsense_Mutation_p.Q64*|BRD4_uc002nau.3_Nonsense_Mutation_p.Q64*	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	64					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)			AGCAGGTATTGCAGTTGGTTG	0.602			T	NUT|C15orf55	lethal midline carcinoma of young people								A	15383721	G	A	15383721	4	1	65	1	0	0	0	0	0	1	0	0	1504	1328	46	2	3989	2	BRD4	19	15383721	Nonsense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	304446	15383721	43745262	936	47762											
CYP4F3	4051	broad.mit.edu	37	chr19	15752261	15752261	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcctcgctgggcctttgGccaatggcagcatccccgtg	12	15	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:15752261G>A	uc002nbj.2	+	2	86	c.36G>A	c.(34-36)TGG>TGA	p.W12*	CYP4F3_uc010xok.1_Nonsense_Mutation_p.W12*|CYP4F3_uc010xol.1_Nonsense_Mutation_p.W12*|CYP4F3_uc010xom.1_5'UTR|CYP4F3_uc002nbk.2_Nonsense_Mutation_p.W12*	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	12	Helical; (Potential).				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3						TGGGCCTTTGGCCAATGGCAG	0.652													A	15752261	G	A	15752261	4	1	65	1	0	0	0	0	0	1	0	0	4190	1212	42	2	38	2	CYP4F3	19	15752261	Nonsense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	368540	15752261	43376722	937	47763											
SIN3B	23309	broad.mit.edu	37	chr19	16976446	16976446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctgtcaccgctgtccccGttgtcctgaaaaggtgccct	9	16	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:16976446G>A	uc002ney.1	+	12	1719	c.1705G>A	c.(1705-1707)GTT>ATT	p.V569I	SIN3B_uc002nez.1_Missense_Mutation_p.V537I|SIN3B_uc010xpi.1_Missense_Mutation_p.V127I	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	569	Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						CGCTGTCCCCGTTGTCCTGAA	0.448													A	16976446	G	A	16976446	3	1	65	1	0	0	0	0	1	0	0	0	14326	1145	40	1	1751	1	SIN3B	19	16976446	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1224185	16976446	42152537	938	47764											
USHBP1	83878	broad.mit.edu	37	chr19	17361173	17361173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctgctccaacttccggCgttgctcttcctgcttccgg	9	16	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:17361173C>T	uc002nfs.1	-	13	2086	c.1973G>A	c.(1972-1974)CGC>CAC	p.R658H	USHBP1_uc002nfr.1_Missense_Mutation_p.R284H|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.R594H	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	658	Potential.						PDZ domain binding			ovary(1)	1						CAACTTCCGGCGTTGCTCTTC	0.672													T	17361173	C	T	17361173	3	4	65	1	0	0	0	0	1	0	0	0	17034	768	27	1	142	1	USHBP1	19	17361173	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	384727	17361173	41767810	939	47765											
PIK3R2	5296	broad.mit.edu	37	chr19	18277076	18277076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaaggaatacctggagcGcttccggcgtgagggcaacg	15	11	0	1	rs143821279		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:18277076G>A	uc002nia.1	+	12	2035	c.1523G>A	c.(1522-1524)CGC>CAC	p.R508H	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	508					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						TACCTGGAGCGCTTCCGGCGT	0.502													A	18277076	G	A	18277076	3	1	65	1	0	0	0	0	1	0	0	0	11919	1087	38	1	1565	1	PIK3R2	19	18277076	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	915903	18277076	40851907	940	47766											
KIAA1683	80726	broad.mit.edu	37	chr19	18376403	18376403	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacagccatgtctacaggCacatacacgtgaggtggctt	12	10	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:18376403C>T	uc002nin.2	-	3	2163	c.1947G>A	c.(1945-1947)GTG>GTA	p.V649V	KIAA1683_uc010ebn.2_Silent_p.V649V|KIAA1683_uc010xqe.1_Silent_p.V603V	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	649						mitochondrion				ovary(2)	2						TGTCTACAGGCACATACACGT	0.587													T	18376403	C	T	18376403	2	4	65	1	0	0	0	0	0	0	0	1	8251	697	25	2		2	KIAA1683	19	18376403	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	99327	18376403	40752580	941	47767											
KIAA0892	23383	broad.mit.edu	37	chr19	19431805	19431805	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcccgcccaaaatccgccTgtgcgtgcactgcctgcagg	11	17	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:19431805T>C	uc002nmk.3	+	1	176	c.137T>C	c.(136-138)CTG>CCG	p.L46P	SF4_uc002nmh.2_5'Flank|SF4_uc002nmi.2_5'Flank|SF4_uc002nmj.2_5'Flank|SF4_uc010xqr.1_5'Flank|SF4_uc010xqs.1_5'Flank	NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN	hypothetical protein LOC23383 precursor	46	Sufficient for interaction with NIPBL.				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding				0						AAAATCCGCCTGTGCGTGCAC	0.557													C	19431805	T	C	19431805	3	2	65	1	0	0	0	0	1	0	0	0	8196	1580	55	3	139	3	KIAA0892	19	19431805	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	1055402	19431805	39697178	942	47768											
ZNF43	7594	broad.mit.edu	37	chr19	21992087	21992087	+	Frame_Shift_Del	DEL	T	T	-													agagtttgtatctagtataaTtttttttatgtgtagtaagg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:21992086_21992086AT>A	uc002nqj.3	-	3	883	c.753_753AT>T	c.(751-753)aatfs	p.N251fs	ZNF43_uc002nql.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqm.3_Frame_Shift_Del_p.N245fs|ZNF43_uc010ecv.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqk.3_Frame_Shift_Del_p.N181fs	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATCTAGTATAATTTTTTTTAT	0.348													-	21992087	T	-	21992087	7	5	65	1	0	1	0	1	0	0	0	0	17900	1493	52	0	1681	0	ZNF43	19	21992087	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	2560282	21992087	37136896	943	47769											
RHPN2	85415	broad.mit.edu	37	chr19	33493301	33493301	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgtagctgttggtagacCtctcccacctgaaatagaag	11	10	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:33493301C>G	uc002nuf.2	-	9	1023	c.957G>C	c.(955-957)GAG>GAC	p.E319D	RHPN2_uc010xro.1_Missense_Mutation_p.E168D|RHPN2_uc002nue.2_Missense_Mutation_p.E49D	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	319	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			central_nervous_system(5)|ovary(1)	6	Esophageal squamous(110;0.137)					GTTGGTAGACCTCTCCCACCT	0.587													G	33493301	C	G	33493301	3	3	65	1	0	0	0	0	1	0	0	0	13351	680	24	5	1131	5	RHPN2	19	33493301	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	11501214	33493301	25635682	944	47770											
LRP3	4037	broad.mit.edu	37	chr19	33697253	33697253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaagctctactcactgcGcacgcaggaatacaggtggg	11	12	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:33697253G>A	uc010edh.2	+	5	1670	c.1577G>A	c.(1576-1578)CGC>CAC	p.R526H	LRP3_uc010xrp.1_Missense_Mutation_p.R400H|LRP3_uc002nuk.3_Missense_Mutation_p.R400H	NM_002333	NP_002324	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein	526	Cytoplasmic (Potential).				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			pancreas(2)|ovary(1)	3	Esophageal squamous(110;0.137)					TACTCACTGCGCACGCAGGAA	0.657													A	33697253	G	A	33697253	3	1	65	1	0	0	0	0	1	0	0	0	8958	1087	38	1	1595	1	LRP3	19	33697253	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	203952	33697253	25431730	945	47771											
KCTD15	79047	broad.mit.edu	37	chr19	34297878	34297878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacgtcctgagcttcctgcGgacgtccaagctgctgcttc	10	15	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:34297878G>A	uc002nuy.3	+	5	621	c.353G>A	c.(352-354)CGG>CAG	p.R118Q	KCTD15_uc002nuv.2_Missense_Mutation_p.R118Q|KCTD15_uc002nuw.3_Missense_Mutation_p.R118Q|KCTD15_uc010xrt.1_Missense_Mutation_p.R118Q|KCTD15_uc002nux.3_Missense_Mutation_p.R118Q	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	118	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)					AGCTTCCTGCGGACGTCCAAG	0.542													A	34297878	G	A	34297878	3	1	65	1	0	0	0	0	1	0	0	0	8102	1116	39	1	363	1	KCTD15	19	34297878	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	600625	34297878	24831105	946	47772											
KCTD15	79047	broad.mit.edu	37	chr19	34302307	34302307	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgacttgggcgagcggatCgcactcagcggcgagaaggc	16	13	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:34302307C>T	uc002nuy.3	+	6	811	c.543C>T	c.(541-543)ATC>ATT	p.I181I	KCTD15_uc002nuv.2_Silent_p.I181I|KCTD15_uc002nuw.3_Silent_p.I181I|KCTD15_uc010xrt.1_Silent_p.I181I|KCTD15_uc002nux.3_Silent_p.I181I	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	181						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)					GCGAGCGGATCGCACTCAGCG	0.701													T	34302307	C	T	34302307	2	4	65	1	0	0	0	0	0	0	0	1	8102	874	31	1		1	KCTD15	19	34302307	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	4429	34302307	24826676	947	47773											
FAM187B	148109	broad.mit.edu	37	chr19	35719411	35719411	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggtgagcctgcccttcttgCcttgtgtgaataaatagtac	10	9	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:35719411C>G	uc002nyk.1	-	1	218	c.173G>C	c.(172-174)GGC>GCC	p.G58A		NM_152481	NP_689694	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	58	Extracellular (Potential).					integral to membrane				ovary(2)	2						GCCCTTCTTGCCTTGTGTGAA	0.517													G	35719411	C	G	35719411	3	3	65	1	0	0	0	0	1	0	0	0	5513	739	26	5	944	5	FAM187B	19	35719411	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1417104	35719411	23409572	948	47774											
MLL2	8085	broad.mit.edu	37	chr19	36210764	36210765	+	Frame_Shift_Ins	INS	-	-	C													ctagcagatgtggctcctacINSccccccaaagacccctgccc					rs60207923	by1000genomes	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:36210763_36210764A>AC	uc021usv.1	+	2	514_515	c.514_515A>AC	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAAG	0.634			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			C	36210765	-	C	36210764	7	5	65	1	0	1	1	0	0	0	0	0	9621	507	18	0		0	MLL2	19	36210764	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	491353	36210764	22918219	949	47775											
MLL4	9757	broad.mit.edu	37	chr19	36229305	36229305	+	Frame_Shift_Del	DEL	C	C	-													tgcttctctcgggtcatccaCgtggagggccagaaacacat							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:36229305delC	uc010eei.2	+	38	7995	c.7995delC	c.(7993-7995)CACfs	p.H2665fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2665	SET.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGTCATCCACGTGGAGGGCC	0.572													-	36229305	C	-	36229305	7	5	65	1	0	1	0	1	0	0	0	0	9623	535	19	0	8141	0	MLL4	19	36229305	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	18541	36229305	22899678	950	47776											
LRFN3	79414	broad.mit.edu	37	chr19	36435744	36435744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacggcggccagcccccCggcaaggccaagattcccgc	13	18	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:36435744C>T	uc002oco.2	+	3	2162	c.1710C>T	c.(1708-1710)CCC>CCT	p.P570P		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	570	Cytoplasmic (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCAGCCCCCCGGCAAGGCCA	0.468													T	36435744	C	T	36435744	2	4	65	1	0	0	0	0	0	0	0	1	8939	639	23	1		1	LRFN3	19	36435744	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	206439	36435744	22693239	951	47777											
ZNF420	147923	broad.mit.edu	37	chr19	37618888	37618888	+	Frame_Shift_Del	DEL	A	A	-													tcagaaaattcataatggggAaaaaccatatgaatgtaagg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:37618887_37618887GA>G	uc002ofl.3	+	4	1209	c.994_994GA>G	c.(994-996)gaafs	p.E332fs		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	Homo sapiens zinc finger protein 420 (ZNF420), mRNA.	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCATAATGGGGAAAAACCATA	0.393													-	37618888	A	-	37618888	7	5	65	1	0	1	0	1	0	0	0	0	17894	246	9	0	1005	0	ZNF420	19	37618888	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	1183144	37618888	21510095	952	47778											
ZNF793	390927	broad.mit.edu	37	chr19	38028433	38028433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttttttttgtgggaaagcCtttacccagaagtcacaccg	9	9	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:38028433C>T	uc010efm.2	+	8	1315	c.873C>T	c.(871-873)GCC>GCT	p.A291A	ZNF793_uc010xts.1_Silent_p.A291A|ZNF793_uc010efo.2_Intron	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	zinc finger protein 793	291	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGGGAAAGCCTTTACCCAGA	0.458													T	38028433	C	T	38028433	2	4	65	1	0	0	0	0	0	0	0	1	18162	668	24	4		4	ZNF793	19	38028433	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	409545	38028433	21100550	953	47779											
PLD3	23646	broad.mit.edu	37	chr19	40877625	40877625	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaactgcagctgcctggctCgagacctgaccaagatcttt	9	13	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:40877625C>T	uc002onm.3	+	9	1122	c.724C>T	c.(724-726)CGA>TGA	p.R242*	PLD3_uc002onj.3_Nonsense_Mutation_p.R242*|PLD3_uc002onk.3_Nonsense_Mutation_p.R242*|PLD3_uc002onl.3_Nonsense_Mutation_p.R242*|PLD3_uc002onn.2_Nonsense_Mutation_p.R242*	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	phospholipase D3	242	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			skin(2)|ovary(1)	3			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CTGCCTGGCTCGAGACCTGAC	0.587													T	40877625	C	T	40877625	4	4	65	1	0	0	0	0	0	1	0	0	12047	876	31	1	750	1	PLD3	19	40877625	Nonsense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2849192	40877625	18251358	954	47780											
NUMBL	9253	broad.mit.edu	37	chr19	41188832	41188832	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaccgcatcttcacacacGtgcattccccgggactcctc	6	18	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:41188832G>A	uc002oon.2	-	4	459	c.291C>T	c.(289-291)CAC>CAT	p.H97H	NUMBL_uc010xvq.1_Silent_p.H56H|NUMBL_uc002ooo.2_Silent_p.H97H|NUMBL_uc010xvr.1_Silent_p.H56H	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	97	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			lung(3)|ovary(1)|breast(1)	5			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CTTCACACACGTGCATTCCCC	0.597													A	41188832	G	A	41188832	2	1	65	1	0	0	0	0	0	0	0	1	10752	1136	40	1		1	NUMBL	19	41188832	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	311207	41188832	17940151	955	47781											
CYP2A7	1549	broad.mit.edu	37	chr19	41386388	41386388	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaaccttactcaccgtgCgtgctccggatggcctcgat	13	13	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:41386388C>T	uc002opm.2	-	3	1031	c.489G>A	c.(487-489)ACG>ACA	p.T163T	CYP2A7_uc002opo.2_Silent_p.T163T|CYP2A7_uc002opn.2_Silent_p.T112T	NM_000764	NP_000755	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A,	163				T -> S (in Ref. 1; AAA52138).		endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACTCACCGTGCGTGCTCCGGA	0.662													T	41386388	C	T	41386388	2	4	65	1	0	0	0	0	0	0	0	1	4163	755	27	1		1	CYP2A7	19	41386388	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	197556	41386388	17742595	956	47782											
PSG9	5678	broad.mit.edu	37	chr19	43772054	43772054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggatcagcagggatgcGttggaatatactgtttctct	11	7	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:43772054G>A	uc002owd.3	-	2	411	c.312C>T	c.(310-312)AAC>AAT	p.N104N	PSG9_uc002owe.3_Silent_p.N104N|PSG9_uc010xwm.1_Silent_p.N104N|PSG9_uc002owf.3_Silent_p.N104N|PSG9_uc002owg.2_Silent_p.N104N|PSG9_uc002owh.2_Silent_p.N104N	NM_002784	NP_002775	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	104	Ig-like V-type.				female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				GCAGGGATGCGTTGGAATATA	0.403													A	43772054	G	A	43772054	2	1	65	1	0	0	0	0	0	0	0	1	12662	1136	40	1		1	PSG9	19	43772054	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2385666	43772054	15356929	957	47783											
APOE	348	broad.mit.edu	37	chr19	45411139	45411139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgcttttgggattacctgCgctgggtgcagacactgtct	13	10	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:45411139C>T	uc002pab.2	+	3	249	c.166C>T	c.(166-168)CGC>TGC	p.R56C		NM_000041	NP_000032	P02649	APOE_HUMAN	apolipoprotein E precursor	56					anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding				0	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGATTACCTGCGCTGGGTGCA	0.652													T	45411139	C	T	45411139	3	4	65	1	0	0	0	0	1	0	0	0	802	768	27	1	172	1	APOE	19	45411139	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1639085	45411139	13717844	958	47784											
SFRS16	11129	broad.mit.edu	37	chr19	45543570	45543570	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagtattatgaaaagatcGtgagtaactggccttttgtc	12	5	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:45543570G>A	uc002pak.2	+	2	197	c.99_splice	c.e2+1	p.I33_splice	SFRS16_uc002pal.2_Splice_Site|SFRS16_uc010xxh.1_Splice_Site_p.I33_splice|SFRS16_uc002pam.2_Splice_Site_p.I33_splice|SFRS16_uc002pan.1_Splice_Site	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	splicing factor, arginine/serine-rich 16						mRNA processing|RNA splicing	nucleus					0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGAAAAGATCGTGAGTAACTG	0.542													A	45543570	G	A	45543570	5	1	65	1	0	0	0	0	0	0	1	0	14172	1159	40	1	102	1	SFRS16	19	45543570	Splice_Site	SNP	G	TCGA-BR-8081-01A-11D-2340-08	132431	45543570	13585413	959	47785											
RTN2	6253	broad.mit.edu	37	chr19	45996513	45996513	+	Frame_Shift_Del	DEL	G	G	-													gaacccggaggacaggagtaGggggggtggggcccctttgg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:45996512_45996512AG>A	uc002pcb.3	-	4	1169	c.939_939CT>T	c.(937-939)cctfs	p.P313fs	RTN2_uc002pcc.3_Intron|RTN2_uc002pcd.3_Intron	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	313						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGACAGGAGTAGGGGGGGTGG	0.572													-	45996513	G	-	45996513	7	5	65	1	0	1	0	1	0	0	0	0	13726	1000	35	0	727	0	RTN2	19	45996513	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	452943	45996513	13132470	960	47786											
GIPR	2696	broad.mit.edu	37	chr19	46180981	46180981	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccccaggtgctgggagcgcAacgaagtcaaggccatttgg	14	11	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:46180981A>G	uc002pcu.1	+	10	967	c.868A>G	c.(868-870)AAC>GAC	p.N290D	GIPR_uc002pct.1_Missense_Mutation_p.N290D|GIPR_uc010xxp.1_Missense_Mutation_p.N254D|GIPR_uc010xxq.1_Intron	NM_000164	NP_000155	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	290	Extracellular (Potential).				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CTGGGAGCGCAACGAAGTCAA	0.577													G	46180981	A	G	46180981	3	3	65	1	0	0	0	0	1	0	0	0	6395	130	5	3	902	3	GIPR	19	46180981	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	184468	46180981	12948002	961	47787											
PNMAL2	57469	broad.mit.edu	37	chr19	46998569	46998569	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaaagccttcatgtgtcGcaacctgaacgtgcccaggg	10	13	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:46998569G>A	uc002pes.2	-	1	601	c.154C>T	c.(154-156)CGA>TGA	p.R52*	uc002peu.1_3'UTR	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	52										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ttcatgtgtcgcaacctgaac	0													A	46998569	G	A	46998569	4	1	65	1	0	0	0	0	0	1	0	0	12158	1095	38	1	1757	1	PNMAL2	19	46998569	Nonsense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	817588	46998569	12130414	962	47788											
ZC3H4	23211	broad.mit.edu	37	chr19	47572412	47572412	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cctcgctctctcctcctcctCctgctgcttctgctggatcc	6	20	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:47572412C>G	uc002pga.3	-	14	2373	c.2335G>C	c.(2335-2337)GAG>CAG	p.E779Q	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	779	Potential.						nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCCTCCTCCTGCTGCTTC	0.701													G	47572412	C	G	47572412	3	3	65	1	0	0	0	0	1	0	0	0	17567	864	30	5	1584	5	ZC3H4	19	47572412	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	573843	47572412	11556571	963	47789											
GLTSCR1	29998	broad.mit.edu	37	chr19	48184029	48184029	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtgttggccccccactcCggggcccacagcgcgcacat	11	20	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:48184029C>T	uc002phh.3	+	6	1796	c.1602C>T	c.(1600-1602)TCC>TCT	p.S534S	GLTSCR1_uc002phi.3_Silent_p.S292S	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	534							protein binding			pancreas(3)	3		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCCCCCACTCCGGGGCCCACA	0.711													T	48184029	C	T	48184029	2	4	65	1	0	0	0	0	0	0	0	1	6474	639	23	1		1	GLTSCR1	19	48184029	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	611617	48184029	10944954	964	47790											
GYS1	2997	broad.mit.edu	37	chr19	49477974	49477974	+	Frame_Shift_Del	DEL	G	G	-													gcatattgtgggtgcacacaGgggggaaagactgccgctgc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:49477973_49477973AG>A	uc002plp.3	-	10	1567	c.1326_1326CT>T	c.(1324-1326)cctfs	p.P442fs	GYS1_uc010emm.3_Frame_Shift_Del_p.P378fs|GYS1_uc010xzz.2_Frame_Shift_Del_p.P362fs|GYS1_uc010yaa.1_Non-coding_Transcript|Mir_324_uc021uxe.1_5'Flank	NM_002103	NP_002094	P13807	GYS1_HUMAN	Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA.	442					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		GGGTGCACACAGGGGGGAAAG	0.587													-	49477974	G	-	49477974	7	5	65	1	0	1	0	1	0	0	0	0	6912	1000	35	0	912	0	GYS1	19	49477974	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	1293945	49477974	9651009	965	47791											
KCNA7	3743	broad.mit.edu	37	chr19	49575417	49575417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagactacggcgagcacgcgCgcggcctgagagctctcggg	17	13	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:49575417C>T	uc002pmg.2	-	1	782	c.426G>A	c.(424-426)GCG>GCA	p.A142A		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related	142						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)	1		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CGAGCACGCGCGCGGCCTGAG	0.711													T	49575417	C	T	49575417	2	4	65	1	0	0	0	0	0	0	0	1	8008	755	27	1		1	KCNA7	19	49575417	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	97443	49575417	9553566	966	47792											
SYT3	84258	broad.mit.edu	37	chr19	51129177	51129177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagccagtgaggtccatcGctttgaggttagaggctttg	14	7	0	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:51129177G>A	uc002pst.2	-	5	2013	c.1379C>T	c.(1378-1380)GCG>GTG	p.A460V	SYT3_uc002psv.2_Missense_Mutation_p.A460V|SYT3_uc010ycd.1_Missense_Mutation_p.A460V	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	460	C2 2.|Cytoplasmic (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GAGGTCCATCGCTTTGAGGTT	0.373													A	51129177	G	A	51129177	3	1	65	1	0	0	0	0	1	0	0	0	15472	1087	38	1	409	1	SYT3	19	51129177	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1553760	51129177	7999806	967	47793											
ACPT	93650	broad.mit.edu	37	chr19	51297840	51297840	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcccgccaaagatggagggTgagaatggtttggtgcccag	15	8	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:51297840T>C	uc002pta.1	+	9	986	c.986_splice	c.e9+2	p.G329_splice		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	testicular acid phosphatase precursor							integral to membrane	acid phosphatase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AGATGGAGGGTGAGAATGGTT	0.617													C	51297840	T	C	51297840	5	2	65	1	0	0	0	0	0	0	1	0	168	1710	59	3	1022	3	ACPT	19	51297840	Splice_Site	SNP	T	TCGA-BR-8081-01A-11D-2340-08	168663	51297840	7831143	968	47794											
ZNF665	79788	broad.mit.edu	37	chr19	53667933	53667933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttgagtgaagaccttgcCacattcattacatttgtaag	7	7	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:53667933C>T	uc010eqm.1	-	4	1910	c.1810G>A	c.(1810-1812)GGC>AGC	p.G604S		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	539	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		AAGACCTTGCCACATTCATTA	0.388													T	53667933	C	T	53667933	3	4	65	1	0	0	0	0	1	0	0	0	18070	594	21	4	230	4	ZNF665	19	53667933	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2370093	53667933	5461050	969	47795											
LENG9	94059	broad.mit.edu	37	chr19	54973657	54973657	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggcagcggcctcctccccAgcgcctgccagtcgcagcag	12	18	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:54973657A>G	uc010yez.1	-	1	1238	c.1119T>C	c.(1117-1119)GCT>GCC	p.A373A		NM_198988	NP_945339	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	373					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CCTCCTCCCCAGCGCCTGCCA	0.652													G	54973657	A	G	54973657	2	3	65	1	0	0	0	0	0	0	0	1	8725	175	7	3		3	LENG9	19	54973657	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	1305724	54973657	4155326	970	47796											
ZNF606	80095	broad.mit.edu	37	chr19	58490991	58490991	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggatgagaaataaaagaTattctcatattctttgtaat	6	3	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:58490991T>C	uc002qqw.2	-	7	1675	c.1057A>G	c.(1057-1059)ATC>GTC	p.I353V	ZNF606_uc010yhp.1_Missense_Mutation_p.I263V	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AAATAAAAGATATTCTCATAT	0.333													C	58490991	T	C	58490991	3	2	65	1	0	0	0	0	1	0	0	0	18029	1406	49	3	1325	3	ZNF606	19	58490991	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	3517334	58490991	637992	971	47797											
C20orf54	113278	broad.mit.edu	37	chr20	744159	744159	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgttaggcaggaacatGgagaccaacgaggcaagagg	14	9	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:744159G>A	uc002wed.3	-	3	1395	c.1056C>T	c.(1054-1056)TCC>TCT	p.S352S	C20orf54_uc002wee.2_Silent_p.S352S	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	hypothetical protein LOC113278 precursor	352	Helical; (Potential).				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity			ovary(2)	2						GCAGGAACATGGAGACCAACG	0.567													A	744159	G	A	744159	2	1	65	1	0	0	0	0	0	0	0	1	2114	1335	47	4		4	C20orf54	20	744159	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08		744159	62281361	972	47798											
SNPH	9751	broad.mit.edu	37	chr20	1285978	1285978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgacacactgagccggacGgacgcgctggaagccagcag	15	12	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:1285978G>A	uc002wes.2	+	6	1001	c.765G>A	c.(763-765)ACG>ACA	p.T255T	SNPH_uc002wet.2_Silent_p.T299T	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	255					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						TGAGCCGGACGGACGCGCTGG	0.682													A	1285978	G	A	1285978	2	1	65	1	0	0	0	0	0	0	0	1	14850	1103	39	1		1	SNPH	20	1285978	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	541819	1285978	61739542	973	47799											
ADAM33	80332	broad.mit.edu	37	chr20	3653445	3653445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccggcggcaccgggagtcCggggtccggggcattggaga	20	12	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:3653445C>T	uc002wit.2	-	12	1321	c.1234G>A	c.(1234-1236)GGA>AGA	p.G412R	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.G412R|ADAM33_uc002wis.2_5'UTR|ADAM33_uc002wiu.2_Missense_Mutation_p.G412R|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_3'UTR|ADAM33_uc010zqh.1_3'UTR	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	412	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4						ACCGGGAGTCCGGGGTCCGGG	0.741													T	3653445	C	T	3653445	3	4	65	1	0	0	0	0	1	0	0	0	250	661	23	1	1251	1	ADAM33	20	3653445	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2367467	3653445	59372075	974	47800											
MCM8	84515	broad.mit.edu	37	chr20	5974312	5974312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatttcaatttcatcaacttCggcagattgccaaagaacta	5	9	3	2	rs147649536		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:5974312C>T	uc002wmi.2	+	18	2778	c.2401C>T	c.(2401-2403)CGG>TGG	p.R801W	MCM8_uc002wmj.2_Missense_Mutation_p.R785W|MCM8_uc002wmk.2_Missense_Mutation_p.R841W|MCM8_uc002wml.2_Missense_Mutation_p.R801W|MCM8_uc010gbp.2_Missense_Mutation_p.R754W|MCM8_uc002wmm.2_Missense_Mutation_p.R339W	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	801					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1						TCATCAACTTCGGCAGATTGC	0.318													T	5974312	C	T	5974312	3	4	65	1	0	0	0	0	1	0	0	0	9393	875	31	1	2467	1	MCM8	20	5974312	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2320867	5974312	57051208	975	47801											
CRLS1	54675	broad.mit.edu	37	chr20	6012658	6012658	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttttggtcctctgccagCgaacacttgccaagtatttc	7	12	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:6012658C>T	uc002wmn.3	+	5	815	c.661C>T	c.(661-663)CGA>TGA	p.R221*	CRLS1_uc010gbq.2_RNA|CRLS1_uc010gbr.2_Nonsense_Mutation_p.R122*	NM_019095	NP_061968	Q9UJA2	CRLS1_HUMAN	cardiolipin synthase 1 isoform 1	221					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphotransferase activity, for other substituted phosphate groups				0						CCTCTGCCAGCGAACACTTGC	0.303													T	6012658	C	T	6012658	4	4	65	1	0	0	0	0	0	1	0	0	3889	782	27	1	692	1	CRLS1	20	6012658	Nonsense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	38346	6012658	57012862	976	47802											
RRBP1	6238	broad.mit.edu	37	chr20	17641004	17641004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctggtggtgagttttcGccatctccttgcgctggttg	12	10	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:17641004G>A	uc010zrq.1	-	3	503	c.149C>T	c.(148-150)GCG>GTG	p.A50V	RRBP1_uc002wpu.2_5'Flank|RRBP1_uc002wpv.1_Missense_Mutation_p.A50V|RRBP1_uc002wpw.1_Missense_Mutation_p.A50V|RRBP1_uc010gcl.1_Intron|RRBP1_uc010zrr.1_Missense_Mutation_p.A50V			Q9P2E9	RRBP1_HUMAN	SubName: Full=RRBP1 protein; Flags: Fragment;	50	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						GTGAGTTTTCGCCATCTCCTT	0.333													A	17641004	G	A	17641004	3	1	65	1	0	0	0	0	1	0	0	0	13678	1087	38	1	2880	1	RRBP1	20	17641004	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	11628346	17641004	45384516	977	47803											
CD93	22918	broad.mit.edu	37	chr20	23066077	23066077	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacagagggggcccgagctGccccagtcgaacacatcggg	14	14	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:23066077G>A	uc002wsv.2	-	1	901	c.753C>T	c.(751-753)GGC>GGT	p.G251G		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	251	Extracellular (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCCCGAGCTGCCCCAGTCGA	0.592													A	23066077	G	A	23066077	2	1	65	1	0	0	0	0	0	0	0	1	3047	1306	46	2		2	CD93	20	23066077	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	5425073	23066077	39959443	978	47804											
GZF1	64412	broad.mit.edu	37	chr20	23350271	23350271	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcagttcacccagctcAacgccctccagcgccaccgc	8	20	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:23350271A>G	uc010gdb.2	+	6	1852	c.1678A>G	c.(1678-1680)AAC>GAC	p.N560D	GZF1_uc002wsy.2_Missense_Mutation_p.N560D|GZF1_uc010zsq.1_Missense_Mutation_p.N84D|GZF1_uc010zsr.1_Missense_Mutation_p.N69D|GZF1_uc002wsz.2_Missense_Mutation_p.N560D	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	560	C2H2-type 9.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CACCCAGCTCAACGCCCTCCA	0.632													G	23350271	A	G	23350271	3	3	65	1	0	0	0	0	1	0	0	0	6914	130	5	3	1692	3	GZF1	20	23350271	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	284194	23350271	39675249	979	47805											
NINL	22981	broad.mit.edu	37	chr20	25507059	25507059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccctggcgaaatggtcGtttccgagaagcgtctgcag	12	12	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:25507059G>A	uc002wux.1	-	2	239	c.165C>T	c.(163-165)AAC>AAT	p.N55N	NINL_uc010gdn.1_Silent_p.N55N|NINL_uc010gdo.1_Translation_Start_Site|NINL_uc010ztf.1_Silent_p.N71N	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	55	EF-hand 2.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						CGAAATGGTCGTTTCCGAGAA	0.532													A	25507059	G	A	25507059	2	1	65	1	0	0	0	0	0	0	0	1	10420	1136	40	1		1	NINL	20	25507059	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2156788	25507059	37518461	980	47806											
HM13	81502	broad.mit.edu	37	chr20	30132838	30132838	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttctggggaaaacaaggaaGgtcagtgctaaccactttcc	11	9	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:30132838G>T	uc002wwe.2	+	4	568	c.454G>T	c.(454-456)GAG>TAG	p.E152*	HM13_uc002wwc.2_Nonsense_Mutation_p.E152*|HM13_uc002wwd.2_Nonsense_Mutation_p.E152*|HM13_uc002wwf.2_5'Flank|HM13_uc010gdu.2_5'Flank|PSIMCT-1_uc010gdt.2_5'Flank	NM_030789	NP_110416	Q8TCT9	HM13_HUMAN	minor histocompatibility antigen 13 isoform 1	152	Cytoplasmic (Potential).				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)	1	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			AAACAAGGAAGGTCAGTGCTA	0.453													T	30132838	G	T	30132838	4	4	65	1	0	0	0	0	0	1	0	0	7217	1014	35	5	535	5	HM13	20	30132838	Nonsense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	4625779	30132838	32892682	981	47807											
CBFA2T2	9139	broad.mit.edu	37	chr20	32232206	32232206	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acatgcagtggctgcaatatCgcgcgatactgtggctcttt	11	10	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:32232206C>T	uc002wzg.1	+	12	2106	c.1569C>T	c.(1567-1569)ATC>ATT	p.I523I	CBFA2T2_uc010zug.1_Silent_p.I297I|CBFA2T2_uc002wze.1_Silent_p.I514I|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.I494I|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA|CBFA2T2_uc002wzk.1_Silent_p.I71I	NM_005093	NP_005084	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit	523	MYND-type.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)|skin(1)	2						GCTGCAATATCGCGCGATACT	0.612													T	32232206	C	T	32232206	2	4	65	1	0	0	0	0	0	0	0	1	2697	874	31	1		1	CBFA2T2	20	32232206	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2099368	32232206	30793314	982	47808											
RALY	22913	broad.mit.edu	37	chr20	32663747	32663747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtccctgtgaagcgacccCgggtcacagtccctttggtc	12	15	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:32663747C>T	uc002xab.2	+	6	743	c.445C>T	c.(445-447)CGG>TGG	p.R149W	RALY_uc002xac.2_Missense_Mutation_p.R133W|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.R149W	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	RNA binding protein (autoantigenic,	149						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(1)	1						GAAGCGACCCCGGGTCACAGT	0.627													T	32663747	C	T	32663747	3	4	65	1	0	0	0	0	1	0	0	0	13019	643	23	1	459	1	RALY	20	32663747	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	431541	32663747	30361773	983	47809											
RALGAPB	57148	broad.mit.edu	37	chr20	37203485	37203485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaaagtgactcctacagtCccccccatgtccgccggaaa	9	15	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:37203485C>T	uc002xiw.2	+	30	4617	c.4360C>T	c.(4360-4362)CCC>TCC	p.P1454S	RALGAPB_uc002xix.2_Missense_Mutation_p.P1451S|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.P1233S	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	1454					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						CTCCTACAGTCCCCCCCATGT	0.428													T	37203485	C	T	37203485	3	4	65	1	0	0	0	0	1	0	0	0	13015	855	30	4	4474	4	RALGAPB	20	37203485	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	4539738	37203485	25822035	984	47810											
TOP1	7150	broad.mit.edu	37	chr20	39721180	39721180	+	Frame_Shift_Del	DEL	C	C	-													acataaaggtccagtatttgCcccaccatatgagcctcttc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:39721179_39721179GC>G	uc002xjl.3	+	8	928	c.682_682GC>G	c.(682-684)gccfs	p.A228fs	TOP1_uc010gge.1_Non-coding_Transcript	NM_003286	NP_003277	P11387	TOP1_HUMAN	Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	228					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	TCCAGTATTTGCCCCACCATA	0.413			T	NUP98	AML*								-	39721180	C	-	39721180	7	5	65	1	0	1	0	1	0	0	0	0	16360	739	26	0	717	0	TOP1	20	39721180	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	2517695	39721180	23304340	985	47811											
PTPRT	11122	broad.mit.edu	37	chr20	40980779	40980779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccaaagccctttgctgtGctggccttgatggtgaagga	14	10	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:40980779G>A	uc002xkg.2	-	10	1891	c.1707C>T	c.(1705-1707)AGC>AGT	p.S569S	PTPRT_uc010ggj.2_Silent_p.S569S	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	569	Extracellular (Potential).|Fibronectin type-III 3.				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)				CCTTTGCTGTGCTGGCCTTGA	0.522													A	40980779	G	A	40980779	2	1	65	1	0	0	0	0	0	0	0	1	12812	1310	46	2		2	PTPRT	20	40980779	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1259599	40980779	22044741	986	47812											
C20orf111	51526	broad.mit.edu	37	chr20	42825844	42825844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagccagacagagttctggCgtgcagcgactgagagtagt	15	8	1	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:42825844C>T	uc002xlk.2	-	4	864	c.727G>A	c.(727-729)GCC>ACC	p.A243T		NM_016470	NP_057554	Q9NX31	CT111_HUMAN	oxidative stress responsive 1	243											0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			AGAGTTCTGGCGTGCAGCGAC	0.522													T	42825844	C	T	42825844	3	4	65	1	0	0	0	0	1	0	0	0	2080	768	27	1	155	1	C20orf111	20	42825844	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1845065	42825844	20199676	987	47813											
RBPJL	11317	broad.mit.edu	37	chr20	43938299	43938299	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcggatcctgcatgccaAggtggcccagaaatcatacg	12	11	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:43938299A>C	uc002xns.2	+	3	296	c.224A>C	c.(223-225)AAG>ACG	p.K75T	MATN4_uc002xnn.2_5'Flank|MATN4_uc002xno.2_5'Flank|MATN4_uc002xnp.2_5'Flank|MATN4_uc002xnr.1_5'Flank|RBPJL_uc002xnt.2_Missense_Mutation_p.K75T	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	recombining binding protein L	75					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CTGCATGCCAAGGTGGCCCAG	0.602													C	43938299	A	C	43938299	3	2	65	1	0	0	0	0	1	0	0	0	13162	72	3	5	234	5	RBPJL	20	43938299	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	1112455	43938299	19087221	988	47814											
ZNF334	55713	broad.mit.edu	37	chr20	45130815	45130815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagtaagggctgactgaCagaagaaggttttcccacat	12	9	0	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:45130815C>T	uc002xsc.2	-	5	1347	c.1163G>A	c.(1162-1164)TGT>TAT	p.C388Y	ZNF334_uc002xsa.2_Missense_Mutation_p.C411Y|ZNF334_uc002xsb.2_Missense_Mutation_p.C350Y|ZNF334_uc002xsd.2_Missense_Mutation_p.C350Y|ZNF334_uc010ghl.2_Missense_Mutation_p.C387Y	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	388	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				GGCTGACTGACAGAAGAAGGT	0.418													T	45130815	C	T	45130815	3	4	65	1	0	0	0	0	1	0	0	0	17848	478	17	4	883	4	ZNF334	20	45130815	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1192516	45130815	17894705	989	47815											
ZNF334	55713	broad.mit.edu	37	chr20	45131154	45131154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgaggcttgtcttcacaCgaaaagttttcctacaatca	8	9	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:45131154C>T	uc002xsc.2	-	5	1008	c.824G>A	c.(823-825)CGT>CAT	p.R275H	ZNF334_uc002xsa.2_Missense_Mutation_p.R298H|ZNF334_uc002xsb.2_Missense_Mutation_p.R237H|ZNF334_uc002xsd.2_Missense_Mutation_p.R237H|ZNF334_uc010ghl.2_Missense_Mutation_p.R274H	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	275	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				TGTCTTCACACGAAAAGTTTT	0.413													T	45131154	C	T	45131154	3	4	65	1	0	0	0	0	1	0	0	0	17848	536	19	1	1222	1	ZNF334	20	45131154	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	339	45131154	17894366	990	47816											
MC3R	4159	broad.mit.edu	37	chr20	54824345	54824345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacgtcaccatcttttacgCgctccgctaccacagcatca	6	16	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:54824345C>T	uc002xxb.2	+	1	558	c.446C>T	c.(445-447)GCG>GTG	p.A149V		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	186	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)|breast(2)	4			Colorectal(105;0.202)			ATCTTTTACGCGCTCCGCTAC	0.582													T	54824345	C	T	54824345	3	4	65	1	0	0	0	0	1	0	0	0	9365	768	27	1	448	1	MC3R	20	54824345	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	9693191	54824345	8201175	991	47817											
LAMA5	3911	broad.mit.edu	37	chr20	60890152	60890152	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccctcgtactggccctgcCaccgctccacattctcctgc	8	20	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:60890152C>A	uc002ycq.2	-	59	8046	c.7979G>T	c.(7978-7980)TGG>TTG	p.W2660L		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2660	Potential.|Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGGCCCTGCCACCGCTCCAC	0.677													A	60890152	C	A	60890152	3	1	65	1	0	0	0	0	1	0	0	0	8609	595	21	5	3196	5	LAMA5	20	60890152	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	6065807	60890152	2135368	992	47818											
DIDO1	11083	broad.mit.edu	37	chr20	61513091	61513091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctttccacctcgtggcgcCgccctcgctccacaagctga	8	20	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:61513091C>T	uc002ydr.1	-	16	4481	c.4217G>A	c.(4216-4218)CGG>CAG	p.R1406Q	DIDO1_uc002yds.1_Missense_Mutation_p.R1406Q	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1406					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CTCGTGGCGCCGCCCTCGCTC	0.607													T	61513091	C	T	61513091	3	4	65	1	0	0	0	0	1	0	0	0	4522	652	23	1	2509	1	DIDO1	20	61513091	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	622939	61513091	1512429	993	47819											
PRIC285	85441	broad.mit.edu	37	chr20	62196357	62196357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggtagtagaagccttgcCgccacaggacaatttggacc	13	11	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:62196357C>T	uc002yfm.2	-	9	4710	c.3818G>A	c.(3817-3819)CGG>CAG	p.R1273Q	PRIC285_uc002yfl.1_Missense_Mutation_p.R704Q	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1273					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GAAGCCTTGCCGCCACAGGAC	0.677													T	62196357	C	T	62196357	3	4	65	1	0	0	0	0	1	0	0	0	12485	652	23	1	4179	1	PRIC285	20	62196357	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	683266	62196357	829163	994	47820											
C20orf135	140701	broad.mit.edu	37	chr20	62493649	62493649	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctgttggcggcttcacGgccacctgggccaccatgac	13	14	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:62493649G>A	uc002ygx.1	+	1	1084	c.756G>A	c.(754-756)ACG>ACA	p.T252T	TPD52L2_uc002ygy.2_5'Flank|TPD52L2_uc002ygz.2_5'Flank|TPD52L2_uc002yha.2_5'Flank|TPD52L2_uc002yhb.2_5'Flank|TPD52L2_uc002yhc.2_5'Flank|TPD52L2_uc002yhd.2_5'Flank|TPD52L2_uc011abk.1_5'Flank|TPD52L2_uc011abl.1_5'Flank	NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN	hypothetical protein LOC140701	252							hydrolase activity				0	all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					GCGGCTTCACGGCCACCTGGG	0.672													A	62493649	G	A	62493649	2	1	65	1	0	0	0	0	0	0	0	1	2088	1103	39	1		1	C20orf135	20	62493649	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	297292	62493649	531871	995	47821											
PCMTD2	55251	broad.mit.edu	37	chr20	62904787	62904787	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggatttccaacccctcagAtgacaacagctgtgaagact	8	12	1	4	rs149434467	by1000genomes	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:62904787A>G	uc002yil.3	+	6	1120	c.920A>G	c.(919-921)GAT>GGT	p.D307G	PCMTD2_uc002yim.3_Missense_Mutation_p.D280G	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	307						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AACCCCTCAGATGACAACAGC	0.522													G	62904787	A	G	62904787	3	3	65	1	0	0	0	0	1	0	0	0	11587	333	12	3	938	3	PCMTD2	20	62904787	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	411138	62904787	120733	996	47822											
TMPRSS15	5651	broad.mit.edu	37	chr21	19666643	19666643	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgacgagagatgcgccGcagagcagtcggccgccata	14	13	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:19666643G>A	uc002ykw.2	-	21	2461	c.2430C>T	c.(2428-2430)TGC>TGT	p.C810C		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	810	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						GAGATGCGCCGCAGAGCAGTC	0.567													A	19666643	G	A	19666643	2	1	65	1	0	0	0	0	0	0	0	1	16243	1079	38	1		1	TMPRSS15	21	19666643	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08		19666643	28463252	997	47823											
TMPRSS15	5651	broad.mit.edu	37	chr21	19737468	19737468	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtattaccgtatgatccaCtggcagacaacacttgtttc	7	10	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:19737468C>T	uc002ykw.2	-	7	793	c.762G>A	c.(760-762)CAG>CAA	p.Q254Q		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	254	Extracellular (Potential).|CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						GTATGATCCACTGGCAGACAA	0.363													T	19737468	C	T	19737468	2	4	65	1	0	0	0	0	0	0	0	1	16243	564	20	4		4	TMPRSS15	21	19737468	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	70825	19737468	28392427	998	47824											
NCAM2	4685	broad.mit.edu	37	chr21	22881276	22881276	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagctgcttctttattcggCaatgtgggttgctgatgtgc	12	8	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:22881276C>T	uc002yld.1	+	16	2431	c.2182C>T	c.(2182-2184)CAA>TAA	p.Q728*	NCAM2_uc011acb.1_Nonsense_Mutation_p.Q586*	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	728	Cytoplasmic (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CTTTATTCGGCAATGTGGGTT	0.468													T	22881276	C	T	22881276	4	4	65	1	0	0	0	0	0	1	0	0	10203	711	25	2	2244	2	NCAM2	21	22881276	Nonsense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	3143808	22881276	25248619	999	47825											
APP	351	broad.mit.edu	37	chr21	27327992	27327992	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaccatgcgcacatgctcGaaatgctttagggtgtgctg	11	11	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:27327992G>A	uc002ylz.2	-	12	1736	c.1536C>T	c.(1534-1536)TTC>TTT	p.F512F	APP_uc011acg.1_Silent_p.F20F|APP_uc010glk.2_Silent_p.F488F|APP_uc002yma.2_Silent_p.F493F|APP_uc011ach.1_Silent_p.F456F|APP_uc002ymb.2_Silent_p.F437F|APP_uc010glj.2_Silent_p.F381F|APP_uc011aci.1_Silent_p.F402F	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	512	Heparin-binding.|Extracellular (Potential).				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				GCACATGCTCGAAATGCTTTA	0.493													A	27327992	G	A	27327992	2	1	65	1	0	0	0	0	0	0	0	1	815	1049	37	1		1	APP	21	27327992	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	4446716	27327992	20801903	1000	47826											
RWDD2B	10069	broad.mit.edu	37	chr21	30380391	30380391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaatgtttttgcaggaatGcagtcagatctgtgttcagc	11	7	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:30380391G>A	uc002yms.2	-	4	503	c.416C>T	c.(415-417)GCA>GTA	p.A139V	RWDD2B_uc002ymt.2_Missense_Mutation_p.A110V|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_Missense_Mutation_p.A59V	NM_016940	NP_058636	P57060	RWD2B_HUMAN	RWD domain containing 2B	139	RWD.										0						TTGCAGGAATGCAGTCAGATC	0.393													A	30380391	G	A	30380391	3	1	65	1	0	0	0	0	1	0	0	0	13756	1319	46	2	551	2	RWDD2B	21	30380391	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	3052399	30380391	17749504	1001	47827											
SON	6651	broad.mit.edu	37	chr21	34923165	34923165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggggcagcctgaggcaaCgatggtgctggagttgccag	18	9	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:34923165C>T	uc002yse.1	+	3	1677	c.1628C>T	c.(1627-1629)ACG>ATG	p.T543M	SON_uc002ysb.1_Missense_Mutation_p.T543M|SON_uc002ysc.2_Missense_Mutation_p.T543M|SON_uc002ysd.2_Translation_Start_Site|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	543					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						CCTGAGGCAACGATGGTGCTG	0.632													T	34923165	C	T	34923165	3	4	65	1	0	0	0	0	1	0	0	0	14926	536	19	1	1638	1	SON	21	34923165	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	4542774	34923165	13206730	1002	47828											
DOPEY2	9980	broad.mit.edu	37	chr21	37617398	37617398	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctctttcagagaggcatgCgcagtgcccgagcctcagga	12	13	3	1	rs145948712		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:37617398C>T	uc002yvg.2	+	19	3199	c.3120C>T	c.(3118-3120)TGC>TGT	p.C1040C	DOPEY2_uc011aeb.1_Silent_p.C989C|DOPEY2_uc002yvh.2_5'UTR	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1040					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						GAGAGGCATGCGCAGTGCCCG	0.512													T	37617398	C	T	37617398	2	4	65	1	0	0	0	0	0	0	0	1	4708	776	27	1		1	DOPEY2	21	37617398	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2694233	37617398	10512497	1003	47829											
HLCS	3141	broad.mit.edu	37	chr21	38269298	38269298	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctccatgttggtcaccacaGgtatacaagatggggttatt	10	9	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:38269298G>T	uc010gnb.2	-	6	2514	c.1313C>A	c.(1312-1314)CCT>CAT	p.P438H	HLCS_uc002yvs.2_Missense_Mutation_p.P438H	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	438					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GGTCACCACAGGTATACAAGA	0.423													T	38269298	G	T	38269298	3	4	65	1	0	0	0	0	1	0	0	0	7213	1000	35	5	891	5	HLCS	21	38269298	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	651900	38269298	9860597	1004	47830											
DSCAM	1826	broad.mit.edu	37	chr21	41385265	41385265	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcctggaccacctcggTttaacaaaaagtccattcta	8	11	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:41385265T>C	uc002yyq.1	-	33	6187	c.5735A>G	c.(5734-5736)AAC>AGC	p.N1912S	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1912	Cytoplasmic (Potential).			HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACCACCTCGGTTTAACAAAAA	0.517													C	41385265	T	C	41385265	3	2	65	1	0	0	0	0	1	0	0	0	4768	1725	60	3	307	3	DSCAM	21	41385265	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	3115967	41385265	6744630	1005	47831											
U2AF1	7307	broad.mit.edu	37	chr21	44515560	44515560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctaccttgacgtacacGttccccaccaggtggtctcc	8	17	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:44515560G>A	uc002zda.1	-	5	420	c.336C>T	c.(334-336)AAC>AAT	p.N112N	U2AF1_uc002zcy.1_Silent_p.N39N|U2AF1_uc002zcz.1_Silent_p.N39N|U2AF1_uc002zdb.1_Silent_p.N112N|U2AF1_uc010gpi.1_Silent_p.N112N	NM_001025203	NP_001020374	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxillary factor 1 isoform	112	RRM.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding				0						TGACGTACACGTTCCCCACCA	0.587													A	44515560	G	A	44515560	2	1	65	1	0	0	0	0	0	0	0	1	16818	1136	40	1		1	U2AF1	21	44515560	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	3130295	44515560	3614335	1006	47832											
TRAPPC10	7109	broad.mit.edu	37	chr21	45507747	45507748	+	Frame_Shift_Ins	INS	-	-	C													catgctggggatggcagagcINScccacaggaagcataaggac							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:45507746_45507747G>GC	uc002zea.3	+	16	2875_2876	c.2706_2707G>GC	c.(2704-2709)gagcccfs	p.E902fs	TRAPPC10_uc010gpo.3_Frame_Shift_Ins_p.E613fs|TRAPPC10_uc011afa.2_Frame_Shift_Ins_p.E280fs|TRAPPC10_uc011afb.1_5'Flank	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	902					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GGATGGCAGAGCCCCACAGGAA	0.554													C	45507748	-	C	45507747	7	5	65	1	0	1	1	0	0	0	0	0	16454	739	26	0	2773	0	TRAPPC10	21	45507747	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	992187	45507747	2622148	1007	47833											
TRAPPC10	7109	broad.mit.edu	37	chr21	45514004	45514004	+	Frame_Shift_Del	DEL	C	C	-													tcaagtggacagaagagcctCccccttctctgcattgccgg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:45514003_45514003TC>T	uc002zea.3	+	19	3226	c.3057_3057TC>T	c.(3055-3057)cctfs	p.P1019fs	TRAPPC10_uc010gpo.3_Frame_Shift_Del_p.P730fs|TRAPPC10_uc011afa.2_Frame_Shift_Del_p.P397fs|TRAPPC10_uc011afb.1_Frame_Shift_Del_p.P124fs	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	1019					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAGAAGAGCCTCCCCCTTCTC	0.498													-	45514004	C	-	45514004	7	5	65	1	0	1	0	1	0	0	0	0	16454	855	30	0	3136	0	TRAPPC10	21	45514004	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	6257	45514004	2615891	1008	47834											
PWP2	5822	broad.mit.edu	37	chr21	45546795	45546795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccaggtgacatgagttctCggcacttcaaacctgagatc	9	13	2	3	rs138442552		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:45546795C>T	uc002zeb.2	+	17	2179	c.2089C>T	c.(2089-2091)CGG>TGG	p.R697W		NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	697						cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CATGAGTTCTCGGCACTTCAA	0.567													T	45546795	C	T	45546795	3	4	65	1	0	0	0	0	1	0	0	0	12844	875	31	1	2155	1	PWP2	21	45546795	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	32791	45546795	2583100	1009	47835											
ITGB2	3689	broad.mit.edu	37	chr21	46308785	46308785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcccaaaggggcccttttCgaacttcaggcactcggcgc	10	15	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:46308785C>T	uc002zgd.2	-	13	1947	c.1903G>A	c.(1903-1905)GAA>AAA	p.E635K	ITGB2_uc002zge.2_Missense_Mutation_p.E635K|ITGB2_uc002zgf.3_Missense_Mutation_p.E635K|ITGB2_uc011afl.1_Missense_Mutation_p.E557K|ITGB2_uc010gpw.2_Missense_Mutation_p.E578K|ITGB2_uc002zgg.2_Missense_Mutation_p.E635K	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	635	Extracellular (Potential).				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGGCCCTTTTCGAACTTCAGG	0.672													T	46308785	C	T	46308785	3	4	65	1	0	0	0	0	1	0	0	0	7894	893	31	1	418	1	ITGB2	21	46308785	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	761990	46308785	1821110	1010	47836											
GAB4	128954	broad.mit.edu	37	chr22	17488876	17488876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgacttcctcagccagccGctgtacagcacgtggccact	11	16	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:17488876G>A	uc002zlw.2	-	1	237	c.129C>T	c.(127-129)AGC>AGT	p.S43S	GAB4_uc010gqs.1_Silent_p.S43S	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	43	PH.									large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCAGCCAGCCGCTGTACAGCA	0.677													A	17488876	G	A	17488876	2	1	65	1	0	0	0	0	0	0	0	1	6151	1078	38	1		1	GAB4	22	17488876	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08		17488876	33815690	1011	47837											
IL17RA	23765	broad.mit.edu	37	chr22	17590340	17590340	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacctccttccagaggacgTgagggagcacctcgaaggct	13	12	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:17590340T>C	uc002zly.2	+	13	2364	c.2231T>C	c.(2230-2232)GTG>GCG	p.V744A	IL17RA_uc010gqt.2_Missense_Mutation_p.V692A	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	744	Cytoplasmic (Potential).				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCAGAGGACGTGAGGGAGCAC	0.652													C	17590340	T	C	17590340	3	2	65	1	0	0	0	0	1	0	0	0	7639	1696	59	3	2281	3	IL17RA	22	17590340	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	101464	17590340	33714226	1012	47838											
PPIL2	23759	broad.mit.edu	37	chr22	22024875	22024875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctcccacaaacaaattttCgtcgtttaccttttgaccac	3	13	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:22024875C>T	uc010gtj.1	+	3	219	c.103C>T	c.(103-105)CGT>TGT	p.R35C	PPIL2_uc002zvh.3_Missense_Mutation_p.R35C|PPIL2_uc002zvi.3_Missense_Mutation_p.R35C|PPIL2_uc002zvg.3_Missense_Mutation_p.R35C|PPIL2_uc011aij.1_Missense_Mutation_p.R35C	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	peptidylprolyl isomerase-like 2 isoform a	35					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			ovary(2)	2	Colorectal(54;0.105)					AACAAATTTTCGTCGTTTACC	0.368													T	22024875	C	T	22024875	3	4	65	1	0	0	0	0	1	0	0	0	12327	884	31	1	113	1	PPIL2	22	22024875	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	4434535	22024875	29279691	1013	47839											
PRAME	23532	broad.mit.edu	37	chr22	22892556	22892556	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaggcaccttccttgaggAacaggtctacgagcacctct	9	14	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:22892556A>G	uc002zwf.2	-	4	701	c.545T>C	c.(544-546)TTC>TCC	p.F182S	LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.F166S|PRAME_uc010gtr.2_Missense_Mutation_p.F182S|PRAME_uc002zwg.2_Missense_Mutation_p.F182S|PRAME_uc002zwh.2_Missense_Mutation_p.F182S|PRAME_uc002zwi.2_Missense_Mutation_p.F182S|PRAME_uc002zwj.2_Missense_Mutation_p.F182S|PRAME_uc002zwk.2_Missense_Mutation_p.F182S	NM_206956	NP_996839	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	182					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			central_nervous_system(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TTCCTTGAGGAACAGGTCTAC	0.473													G	22892556	A	G	22892556	3	3	65	1	0	0	0	0	1	0	0	0	12424	246	9	3	992	3	PRAME	22	22892556	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	867681	22892556	28412010	1014	47840											
GGT1	2678	broad.mit.edu	37	chr22	25010758	25010758	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagggatgcactgcgggaCggtggctctgcggtggatgc	20	9	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:25010758C>T	uc003aan.1	+	6	667	c.180C>T	c.(178-180)GAC>GAT	p.D60D	GGT1_uc003aas.1_Silent_p.D60D|GGT1_uc003aat.1_Silent_p.D60D|GGT1_uc003aau.1_Silent_p.D60D|GGT1_uc003aav.1_Silent_p.D60D|GGT1_uc003aaw.1_Silent_p.D60D|GGT1_uc003aax.1_Silent_p.D60D	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	60	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)	CACTGCGGGACGGTGGCTCTG	0.622													T	25010758	C	T	25010758	2	4	65	1	0	0	0	0	0	0	0	1	6361	535	19	1		1	GGT1	22	25010758	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2118202	25010758	26293808	1015	47841											
TFIP11	24144	broad.mit.edu	37	chr22	26890229	26890231	+	In_Frame_Del	DEL	CTC	CTC	-													cccaggtaccacttggtgatCtcctcataatttgggctgtt					rs145696489		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:26890228_26890230TCTC>T	uc003acr.2	-	12	2407_2409	c.2033_2035GAGA>A	c.(2032-2037)gagatc>gAtc	p.678_679EI>D	TFIP11_uc003acq.2_In_Frame_Del_p.37_38EI>D|TFIP11_uc003acs.2_In_Frame_Del_p.678_679EI>D|TFIP11_uc003act.2_In_Frame_Del_p.678_679EI>D	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	678					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CACTTGGTGATCTCCTCATAATT	0.438													-	26890231	CTC	-	26890229	7	5	65	1	0	1	0	1	0	0	0	0	15804	912	32	0	487	0	TFIP11	22	26890229	In_Frame_Del	DEL	CTC	TCGA-BR-8081-01A-11D-2340-08	1879471	26890229	24414337	1016	47842											
MN1	4330	broad.mit.edu	37	chr22	28195359	28195359	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctccgtcctgcaggccGccgctgggcgtgcccgcctc	15	19	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:28195359G>A	uc003adj.2	-	1	2128	c.1173C>T	c.(1171-1173)GGC>GGT	p.G391G		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	391							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						CCTGCAGGCCGCCGCTGGGCG	0.612			T	ETV6	AML|meningioma								A	28195359	G	A	28195359	2	1	65	1	0	0	0	0	0	0	0	1	9673	1074	38	1		1	MN1	22	28195359	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1305130	28195359	23109207	1017	47843											
CHEK2	11200	broad.mit.edu	37	chr22	29091778	29091778	+	Frame_Shift_Del	DEL	A	A	-													ccaacagaaacaagaacttcAggcgccaagtaggtgggggt							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:29091777_29091777CA>C	uc003adu.1	-	10	1252	c.1180_1180TG>G	c.(1180-1182)gaafs	p.E394fs	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Frame_Shift_Del_p.E173fs|CHEK2_uc010gvh.1_Frame_Shift_Del_p.E303fs|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Frame_Shift_Del_p.E437fs|CHEK2_uc003adv.1_Frame_Shift_Del_p.E365fs|CHEK2_uc003adx.1_Frame_Shift_Del_p.E173fs	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	394	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						ACAAGAACTTCAGGCGCCAAG	0.423			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					-	29091778	A	-	29091778	7	5	65	1	0	1	0	1	0	0	0	0	3335	175	7	0	472	0	CHEK2	22	29091778	Frame_Shift_Del	DEL	A	TCGA-BR-8081-01A-11D-2340-08	896419	29091778	22212788	1018	47844											
PES1	23481	broad.mit.edu	37	chr22	30977552	30977552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgagcaactggtaaaggCggaagttgacaaagcccagc	14	8	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:30977552C>T	uc003aij.1	-	7	784	c.710G>A	c.(709-711)CGC>CAC	p.R237H	PES1_uc003aik.1_Missense_Mutation_p.R237H|PES1_uc003ail.1_Missense_Mutation_p.R220H|PES1_uc003aim.1_Missense_Mutation_p.R237H|PES1_uc003ain.1_Missense_Mutation_p.R98H|PES1_uc003aio.1_Missense_Mutation_p.R98H	NM_014303	NP_055118	O00541	PESC_HUMAN	pescadillo homolog 1, containing BRCT domain	237	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						CTGGTAAAGGCGGAAGTTGAC	0.597													T	30977552	C	T	30977552	3	4	65	1	0	0	0	0	1	0	0	0	11733	768	27	1	1092	1	PES1	22	30977552	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1885774	30977552	20327014	1019	47845											
INPP5J	27124	broad.mit.edu	37	chr22	31522407	31522407	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcactgccatgcccccagaCgatgtcacatccctcctcca	7	19	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:31522407C>T	uc003aju.3	+	3	1409	c.1317C>T	c.(1315-1317)GAC>GAT	p.D439D	INPP5J_uc010gwf.2_Silent_p.D439D|INPP5J_uc003ajv.3_Silent_p.D72D|INPP5J_uc003ajs.3_Silent_p.D72D|INPP5J_uc011alk.1_Silent_p.D372D|INPP5J_uc010gwg.2_Silent_p.D4D|INPP5J_uc003ajw.2_Translation_Start_Site|INPP5J_uc003ajt.3_Silent_p.D71D|INPP5J_uc003ajx.2_5'Flank|INPP5J_uc003ajy.2_5'Flank|INPP5J_uc003ajz.2_5'Flank	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	phosphatidylinositol (4,5) bisphosphate	439	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			skin(1)	1						TGCCCCCAGACGATGTCACAT	0.632													T	31522407	C	T	31522407	2	4	65	1	0	0	0	0	0	0	0	1	7759	535	19	1		1	INPP5J	22	31522407	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	544855	31522407	19782159	1020	47846											
DEPDC5	9681	broad.mit.edu	37	chr22	32210985	32210985	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgcctggcagatctgtgCgagagcgagagagtcacagt	14	9	3	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:32210985C>T	uc003als.2	+	21	1595	c.1453C>T	c.(1453-1455)CGA>TGA	p.R485*	DEPDC5_uc011als.1_Nonsense_Mutation_p.R485*|DEPDC5_uc011alu.1_Nonsense_Mutation_p.R485*|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Nonsense_Mutation_p.R485*|DEPDC5_uc003alr.1_Nonsense_Mutation_p.R485*|DEPDC5_uc011alt.1_Nonsense_Mutation_p.R457*	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	485					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						CAGATCTGTGCGAGAGCGAGA	0.527													T	32210985	C	T	32210985	4	4	65	1	0	0	0	0	0	1	0	0	4442	760	27	1	1531	1	DEPDC5	22	32210985	Nonsense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	688578	32210985	19093581	1021	47847											
HMGXB4	10042	broad.mit.edu	37	chr22	35660704	35660704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccacagtctactgataCagctatggacctgttgaaag	9	11	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:35660704C>T	uc003anl.2	+	5	497	c.323C>T	c.(322-324)ACA>ATA	p.T108I	HMGXB4_uc011amh.1_5'UTR|HMGXB4_uc003ank.2_5'UTR	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	high-mobility group protein 2-like 1	108					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|skin(1)	2						TCTACTGATACAGCTATGGAC	0.448													T	35660704	C	T	35660704	3	4	65	1	0	0	0	0	1	0	0	0	7239	478	17	4	337	4	HMGXB4	22	35660704	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	3449719	35660704	15643862	1022	47848											
APOL2	23780	broad.mit.edu	37	chr22	36624092	36624092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggatgccagaggtagtGccaacagagttggacaccac	13	10	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:36624092G>A	uc003aoz.2	-	5	708	c.372C>T	c.(370-372)GGC>GGT	p.G124G	APOL2_uc011amm.1_Silent_p.G236G|APOL2_uc003apa.2_Silent_p.G124G	NM_030882	NP_112092	Q9BQE5	APOL2_HUMAN	apolipoprotein L2	124					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding				0						CAGAGGTAGTGCCAACAGAGT	0.567													A	36624092	G	A	36624092	2	1	65	1	0	0	0	0	0	0	0	1	806	1306	46	2		2	APOL2	22	36624092	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	963388	36624092	14680474	1023	47849											
ELFN2	114794	broad.mit.edu	37	chr22	37771205	37771205	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggcggctcatgcctcGcagcatgccctccgtcaggt	12	16	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:37771205G>A	uc003asq.3	-	3	1156	c.370C>T	c.(370-372)CGA>TGA	p.R124*		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	124	LRR 3.|Extracellular (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					CTCATGCCTCGCAGCATGCCC	0.622													A	37771205	G	A	37771205	4	1	65	1	0	0	0	0	0	1	0	0	5058	1095	38	1	2096	1	ELFN2	22	37771205	Nonsense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1147113	37771205	13533361	1024	47850											
KCNJ4	3761	broad.mit.edu	37	chr22	38823343	38823343	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaagcgggctgtcctcgtcGatctcgtggacaatgatgat	12	9	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:38823343G>A	uc003avs.1	-	2	892	c.795C>T	c.(793-795)ATC>ATT	p.I265I	KCNJ4_uc003avt.1_Silent_p.I265I	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	265	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					TGTCCTCGTCGATCTCGTGGA	0.617													A	38823343	G	A	38823343	2	1	65	1	0	0	0	0	0	0	0	1	8053	1048	37	1		1	KCNJ4	22	38823343	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1052138	38823343	12481223	1025	47851											
DDX17	10521	broad.mit.edu	37	chr22	38895455	38895455	+	Frame_Shift_Del	DEL	C	C	-													cgggtttaggacaaacatctCcccccctcactgtaatctcc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:38895454_38895454TC>T	uc003avy.4	-	2	592	c.489_489GA>A	c.(487-489)ggafs	p.G163fs	DDX17_uc003avx.4_Frame_Shift_Del_p.G163fs|DDX17_uc011anu.2_Frame_Shift_Del_p.G76fs	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCA	0.383													-	38895455	C	-	38895455	7	5	65	1	0	1	0	1	0	0	0	0	4344	855	30	0	1751	0	DDX17	22	38895455	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	72112	38895455	12409111	1026	47852											
APOBEC3B	9582	broad.mit.edu	37	chr22	39388072	39388072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggacacctttgtgtaccGccagggatgtcccttccagc	11	14	0	0	rs1053813	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:39388072G>A	uc003awo.1	+	7	1106	c.1052G>A	c.(1051-1053)CGC>CAC	p.R351H	APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.R326H|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	351					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(58;0.04)					TTTGTGTACCGCCAGGGATGT	0.612													A	39388072	G	A	39388072	3	1	65	1	0	0	0	0	1	0	0	0	790	1087	38	1	1078	1	APOBEC3B	22	39388072	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	492617	39388072	11916494	1027	47853											
ST13	6767	broad.mit.edu	37	chr22	41222545	41222545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttatcagaaggacattaCgcttgacctccaaatttggc	7	9	1	2	rs12373984		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:41222545C>T	uc003aze.2	-	12	1250	c.1107G>A	c.(1105-1107)GCG>GCA	p.A369A	ST13_uc011aow.1_Silent_p.A359A	NM_003932	NP_003923	P50502	F10A1_HUMAN	heat shock 70kD protein binding protein	369							protein binding, bridging				0						AAGGACATTACGCTTGACCTC	0.413													T	41222545	C	T	41222545	2	4	65	1	0	0	0	0	0	0	0	1	15209	523	19	1		1	ST13	22	41222545	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1834473	41222545	10082021	1028	47854											
TOB2	10766	broad.mit.edu	37	chr22	41833202	41833202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggaagccagagcctttcaGtggcttctcagggtaccagt	13	11	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:41833202G>A	uc003azz.1	-	2	855	c.148C>T	c.(148-150)CTG>TTG	p.L50L		NM_016272	NP_057356	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	50					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				ovary(1)	1						GAGCCTTTCAGTGGCTTCTCA	0.602													A	41833202	G	A	41833202	2	1	65	1	0	0	0	0	0	0	0	1	16345	1020	36	4		4	TOB2	22	41833202	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	610657	41833202	9471364	1029	47855											
MCAT	27349	broad.mit.edu	37	chr22	43529111	43529111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctgcagcacatccacggCgctgtaggacttccaggcct	12	14	1	0	rs143026395		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:43529111C>T	uc003bdl.1	-	4	1160	c.1111G>A	c.(1111-1113)GCC>ACC	p.A371T	MCAT_uc003bdm.1_3'UTR	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN	mitochondrial malonyltransferase isoform a	371					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			ovary(1)	1		Ovarian(80;0.0694)				ACATCCACGGCGCTGTAGGAC	0.612													T	43529111	C	T	43529111	3	4	65	1	0	0	0	0	1	0	0	0	9372	768	27	1	65	1	MCAT	22	43529111	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1695909	43529111	7775455	1030	47856											
SCUBE1	80274	broad.mit.edu	37	chr22	43619155	43619155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagcagctctccacaccGcctgccttgctgcaggacag	11	15	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:43619155G>A	uc003bdt.1	-	11	1363	c.1275C>T	c.(1273-1275)GGC>GGT	p.G425G		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	425					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				TCTCCACACCGCCTGCCTTGC	0.627													A	43619155	G	A	43619155	2	1	65	1	0	0	0	0	0	0	0	1	13944	1074	38	1		1	SCUBE1	22	43619155	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	90044	43619155	7685411	1031	47857											
EFCAB6	64800	broad.mit.edu	37	chr22	44031028	44031028	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagctcatcccttccttctcGaagcctattttagtggtcag	7	12	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:44031028G>A	uc003bdy.1	-	18	2267	c.2052C>T	c.(2050-2052)TTC>TTT	p.F684F	EFCAB6_uc003bdz.1_Silent_p.F532F|EFCAB6_uc010gzi.1_Silent_p.F532F|EFCAB6_uc010gzj.1_Intron|EFCAB6_uc010gzk.1_Intron	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	684					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTCCTTCTCGAAGCCTATTT	0.537													A	44031028	G	A	44031028	2	1	65	1	0	0	0	0	0	0	0	1	4939	1049	37	1		1	EFCAB6	22	44031028	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	411873	44031028	7273538	1032	47858											
PNPLA3	80339	broad.mit.edu	37	chr22	44328952	44328953	+	Frame_Shift_Ins	INS	-	-	C													ttctctcgagagcttttgtcINScccccggatctcaaggtgag							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:44328951_44328952T>TC	uc003bei.1	+	3	853_854	c.680_681T>TC	c.(679-681)gtcfs	p.V227fs	PNPLA3_uc010gzm.1_Non-coding_Transcript	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN	Homo sapiens patatin-like phospholipase domain containing 3 (PNPLA3), mRNA.	227					triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				AGAGCTTTTGTCCCCCCGGATC	0.545													C	44328953	-	C	44328952	7	5	65	1	0	1	1	0	0	0	0	0	12166	842	30	0	695	0	PNPLA3	22	44328952	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	297924	44328952	6975614	1033	47859											
SAMM50	25813	broad.mit.edu	37	chr22	44368144	44368144	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacttccaaatgggttagaCgttacctttgaagtaactga	9	8	0	3	rs142640319		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:44368144C>T	uc003bej.2	+	5	548	c.351C>T	c.(349-351)GAC>GAT	p.D117D	SAMM50_uc011aqd.1_Intron|SAMM50_uc003bek.2_5'Flank	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	sorting and assembly machinery component 50	117					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			skin(1)	1		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				ATGGGTTAGACGTTACCTTTG	0.363													T	44368144	C	T	44368144	2	4	65	1	0	0	0	0	0	0	0	1	13829	535	19	1		1	SAMM50	22	44368144	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	39192	44368144	6936422	1034	47860											
GRAMD4	23151	broad.mit.edu	37	chr22	47033823	47033823	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatgagatcaaaggtcaCctggaaattgccttattgga	10	7	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:47033823C>A	uc003bhx.2	+	2	288	c.249C>A	c.(247-249)CAC>CAA	p.H83Q	GRAMD4_uc010had.2_Missense_Mutation_p.H22Q	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	83	Potential.				apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		TCAAAGGTCACCTGGAAATTG	0.502													A	47033823	C	A	47033823	3	1	65	1	0	0	0	0	1	0	0	0	6752	506	18	5	255	5	GRAMD4	22	47033823	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2665679	47033823	4270743	1035	47861											
ALG12	79087	broad.mit.edu	37	chr22	50297991	50297991	+	Frame_Shift_Del	DEL	G	G	-													cccccagcacccacctgtctGggggggcaccagctggtgca							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:50297990_50297990TG>T	uc003biy.3	-	7	1431	c.1157_1157CA>A	c.(1156-1158)cagfs	p.Q386fs		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.	386					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CCCACCTGTCTGGGGGGGCAC	0.642													-	50297991	G	-	50297991	7	5	65	1	0	1	0	1	0	0	0	0	514	1357	47	0	322	0	ALG12	22	50297991	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	3264168	50297991	1006575	1036	47862											
CRELD2	79174	broad.mit.edu	37	chr22	50318101	50318101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggagcacggacagtgtgCaggtcagtgacggggtctgt	19	7	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:50318101C>T	uc003bja.2	+	8	1001	c.866C>T	c.(865-867)GCA>GTA	p.A289V	CRELD2_uc010haj.2_Missense_Mutation_p.A289V|CRELD2_uc010hal.2_Missense_Mutation_p.A338V|CRELD2_uc010hak.2_Missense_Mutation_p.A261V|CRELD2_uc010ham.2_Intron	NM_024324	NP_077300	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2 isoform b	289	FU 2.					endoplasmic reticulum|extracellular region	calcium ion binding				0		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		GGACAGTGTGCAGGTCAGTGA	0.592													T	50318101	C	T	50318101	3	4	65	1	0	0	0	0	1	0	0	0	3867	710	25	2	1047	2	CRELD2	22	50318101	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	20110	50318101	986465	1037	47863											
TRABD	80305	broad.mit.edu	37	chr22	50635771	50635771	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcgagttcagggaggcCttcaaggaggtgggcacagg	20	7	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:50635771C>A	uc003bjq.1	+	6	608	c.522C>A	c.(520-522)GCC>GCA	p.A174A	TRABD_uc003bjr.1_Silent_p.A58A|TRABD_uc003bjs.1_Silent_p.A174A|TRABD_uc003bjt.1_Silent_p.A174A|TRABD_uc003bju.1_Silent_p.A174A|TRABD_uc003bjv.2_Silent_p.A174A|TRABD_uc003bjw.1_Silent_p.A174A	NM_025204	NP_079480	Q9H4I3	TRABD_HUMAN	TraB domain containing	174											0		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		TCAGGGAGGCCTTCAAGGAGG	0.652													A	50635771	C	A	50635771	2	1	65	1	0	0	0	0	0	0	0	1	16432	668	24	5		5	TRABD	22	50635771	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	317670	50635771	668795	1038	47864											
SBF1	6305	broad.mit.edu	37	chr22	50892961	50892961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagcaggcgtgagatggCgtcaggctgggcccgcgggc	18	13	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:50892961C>T	uc003blh.2	-	36	5218	c.5023G>A	c.(5023-5025)GCC>ACC	p.A1675T	SBF1_uc003ble.2_Missense_Mutation_p.A139T|SBF1_uc003blf.2_Missense_Mutation_p.A151T|SBF1_uc011arx.1_Missense_Mutation_p.A1313T	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1649					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGTGAGATGGCGTCAGGCTGG	0.672													T	50892961	C	T	50892961	3	4	65	1	0	0	0	0	1	0	0	0	13858	768	27	1	682	1	SBF1	22	50892961	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	257190	50892961	411605	1039	47865											
SHANK3	85358	broad.mit.edu	37	chr22	51160524	51160524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcccaagctcaagtccccGctggggaaggggccggtgac	15	13	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:51160524G>A	uc003bne.1	+	22	4311	c.4311G>A	c.(4309-4311)CCG>CCA	p.P1437P	SHANK3_uc003bnf.1_Silent_p.P884P|SHANK3_uc010hbg.1_Silent_p.P619P	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1437										central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TCAAGTCCCCGCTGGGGAAGG	0.652													A	51160524	G	A	51160524	2	1	65	1	0	0	0	0	0	0	0	1	14266	1074	38	1		1	SHANK3	22	51160524	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	267563	51160524	144042	1040	47866											
P2RY8	286530	broad.mit.edu	37	chrX	1584880	1584880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatggtgaagaggaacacgGcccacatggccacgctgggg	16	10	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:1584880G>A	uc004cpz.2	-	2	820	c.572C>T	c.(571-573)GCC>GTC	p.A191V		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	191	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGGAACACGGCCCACATGGC	0.612			T	CRLF2	B-ALL|Downs associated ALL								A	1584880	G	A	1584880	3	1	65	1	0	0	0	0	1	0	0	0	11355	1203	42	2	511	2	P2RY8	23	1584880	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08		1584880	153685680	1041	47867											
NLGN4X	57502	broad.mit.edu	37	chrX	5821701	5821701	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccgtcgatcaccggcccgaAggctatgtggtaggtggccg	16	12	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:5821701A>T	uc010ndh.2	-	5	1519	c.1018T>A	c.(1018-1020)TTC>ATC	p.F340I	NLGN4X_uc004crp.2_Missense_Mutation_p.F360I|NLGN4X_uc004crq.2_Missense_Mutation_p.F340I|NLGN4X_uc010ndi.2_Missense_Mutation_p.F377I|NLGN4X_uc004crr.2_Missense_Mutation_p.F340I|NLGN4X_uc010ndj.2_Missense_Mutation_p.F340I	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	340	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						ACCGGCCCGAAGGCTATGTGG	0.582													T	5821701	A	T	5821701	3	4	65	1	0	0	0	0	1	0	0	0	10464	72	3	5	1440	5	NLGN4X	23	5821701	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	4236821	5821701	149448859	1042	47868											
WWC3	55841	broad.mit.edu	37	chrX	10077877	10077877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtcctggccaagcacggCcgaggctgacagggaccggc	16	13	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:10077877C>T	uc004csx.3	+	9	989	c.791C>T	c.(790-792)GCC>GTC	p.A264V	WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	264	Potential.									ovary(4)	4						CCAAGCACGGCCGAGGCTGAC	0.617													T	10077877	C	T	10077877	3	4	65	1	0	0	0	0	1	0	0	0	17410	739	26	2	821	2	WWC3	23	10077877	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	4256176	10077877	145192683	1043	47869											
MSL3	10943	broad.mit.edu	37	chrX	11790307	11790307	+	Frame_Shift_Del	DEL	C	C	-													aagcttgtgcctgacaattaCcccccaggtgaccagccgcc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:11790306_11790306AC>A	uc004cuw.3	+	10	1418	c.1313_1313AC>A	c.(1312-1314)tacfs	p.Y438fs	MSL3_uc011mig.2_Frame_Shift_Del_p.Y289fs|MSL3_uc011mih.2_Frame_Shift_Del_p.Y426fs|MSL3_uc004cuy.3_Frame_Shift_Del_p.Y272fs	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN	Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.	438					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						CCTGACAATTACCCCCCAGGT	0.458													-	11790307	C	-	11790307	7	5	65	1	0	1	0	1	0	0	0	0	9879	518	18	0	1436	0	MSL3	23	11790307	Frame_Shift_Del	DEL	C	TCGA-BR-8081-01A-11D-2340-08	1712430	11790307	143480253	1044	47870											
TLR8	51311	broad.mit.edu	37	chrX	12939421	12939421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaaaacaatcaacaaatcCgcacttgaaactaagaccac	3	12	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:12939421C>T	uc004cve.2	+	2	2330	c.2262C>T	c.(2260-2262)TCC>TCT	p.S754S	TLR8_uc004cvd.2_Silent_p.S772S	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	754	LRR 23.|Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						TCAACAAATCCGCACTTGAAA	0.423													T	12939421	C	T	12939421	2	4	65	1	0	0	0	0	0	0	0	1	15954	639	23	1		1	TLR8	23	12939421	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1149114	12939421	142331139	1045	47871											
GRPR	2925	broad.mit.edu	37	chrX	16142438	16142438	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgatcccctttatacagcTtacctctgttggggtgtctg	9	11	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:16142438T>C	uc004cxj.2	+	1	1015	c.362T>C	c.(361-363)CTT>CCT	p.L121P		NM_005314	NP_005305	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	121	Helical; Name=3; (Potential).				cell proliferation	integral to plasma membrane	bombesin receptor activity			ovary(3)|lung(1)	4	Hepatocellular(33;0.183)					TTTATACAGCTTACCTCTGTT	0.527											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	16142438	T	C	16142438	3	2	65	1	0	0	0	0	1	0	0	0	6808	1609	56	3	364	3	GRPR	23	16142438	Missense_Mutation	SNP	T	TCGA-BR-8081-01A-11D-2340-08	3203017	16142438	139128122	1046	47872											
CTPS2	56474	broad.mit.edu	37	chrX	16717193	16717193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctaaatcaacttctccacCatcatttaagacgaagactt	4	11	4	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:16717193C>T	uc004cxk.2	-	3	934	c.190G>A	c.(190-192)GGT>AGT	p.G64S	CTPS2_uc004cxl.2_Missense_Mutation_p.G64S|CTPS2_uc004cxm.2_Missense_Mutation_p.G64S	NM_001144002	NP_001137474	Q9NRF8	PYRG2_HUMAN	cytidine triphosphate synthase II	64					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			ovary(1)	1	Hepatocellular(33;0.0997)					ACTTCTCCACCATCATTTAAG	0.313													T	16717193	C	T	16717193	3	4	65	1	0	0	0	0	1	0	0	0	4023	594	21	4	1634	4	CTPS2	23	16717193	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	574755	16717193	138553367	1047	47873											
SYAP1	94056	broad.mit.edu	37	chrX	16778386	16778386	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattgggaaaaagaactgcaGcaggaacttcaagaatatga	11	5	1	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:16778386G>T	uc004cxp.2	+	9	1056	c.963G>T	c.(961-963)CAG>CAT	p.Q321H	SYAP1_uc004cxo.2_Missense_Mutation_p.A321S|SYAP1_uc011miv.1_Missense_Mutation_p.Q287H	NM_032796	NP_116185	Q96A49	SYAP1_HUMAN	SYAP1 protein	321										skin(1)	1	Hepatocellular(33;0.0997)					AAGAACTGCAGCAGGAACTTC	0.373													T	16778386	G	T	16778386	3	4	65	1	0	0	0	0	1	0	0	0	15423	962	34	5	997	5	SYAP1	23	16778386	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	61193	16778386	138492174	1048	47874											
SH3KBP1	30011	broad.mit.edu	37	chrX	19610206	19610206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttttcttctgttctgtttgGaagcatttctggtctttcag	8	7	6	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:19610206G>A	uc004czm.2	-	11	1433	c.1117C>T	c.(1117-1119)CCA>TCA	p.P373S	SH3KBP1_uc011mje.1_Missense_Mutation_p.P112S|SH3KBP1_uc011mjf.1_Missense_Mutation_p.P135S|SH3KBP1_uc004czl.2_Missense_Mutation_p.P336S	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	373	Pro-rich.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0						GTTCTGTTTGGAAGCATTTCT	0.408													A	19610206	G	A	19610206	3	1	65	1	0	0	0	0	1	0	0	0	14255	1174	41	4	912	4	SH3KBP1	23	19610206	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2831820	19610206	135660354	1049	47875											
PTCHD1	139411	broad.mit.edu	37	chrX	23397938	23397938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgggcaccagcttgggggCgtcactgtgcacagcaaaga	14	10	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:23397938C>T	uc004dal.3	+	2	590	c.582C>T	c.(580-582)GGC>GGT	p.G194G	PTCHD1_uc010nfu.1_Silent_p.G194G	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	194					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						AGCTTGGGGGCGTCACTGTGC	0.527													T	23397938	C	T	23397938	2	4	65	1	0	0	0	0	0	0	0	1	12732	755	27	1		1	PTCHD1	23	23397938	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	3787732	23397938	131872622	1050	47876											
ZFX	7543	broad.mit.edu	37	chrX	24226349	24226349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttagatgttgctgaaatcGctgacgaagtttatatggaa	10	5	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:24226349G>A	uc004dbf.2	+	7	1213	c.955G>A	c.(955-957)GCT>ACT	p.A319T	ZFX_uc004dbd.1_Missense_Mutation_p.A319T|ZFX_uc010nfx.1_Missense_Mutation_p.A90T|ZFX_uc004dbe.2_Missense_Mutation_p.A319T|ZFX_uc011mjv.1_Missense_Mutation_p.A358T|ZFX_uc010nfy.1_Intron|ZFX_uc010nfz.2_Missense_Mutation_p.A22T	NM_003410	NP_003401	P17010	ZFX_HUMAN	zinc finger protein, X-linked	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(2)	2						TGCTGAAATCGCTGACGAAGT	0.438													A	24226349	G	A	24226349	3	1	65	1	0	0	0	0	1	0	0	0	17658	1087	38	1	973	1	ZFX	23	24226349	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	828411	24226349	131044211	1051	47877											
DCAF8L1	139425	broad.mit.edu	37	chrX	27999217	27999217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccatgctttcaagttcgaCgtcttcacttgaactttctg	6	12	4	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:27999217C>T	uc004dbx.1	-	1	350	c.235G>A	c.(235-237)GTC>ATC	p.V79I		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	79	Glu-rich.									ovary(3)|skin(1)	4						TCAAGTTCGACGTCTTCACTT	0.393													T	27999217	C	T	27999217	3	4	65	1	0	0	0	0	1	0	0	0	4277	536	19	1	1571	1	DCAF8L1	23	27999217	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	3772868	27999217	127271343	1052	47878											
DMD	1756	broad.mit.edu	37	chrX	31986498	31986498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcagacctcctgccacCgcagattcaggcttcccaat	8	15	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:31986498C>T	uc004dda.1	-	45	6816	c.6572G>A	c.(6571-6573)CGG>CAG	p.R2191Q	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.R847Q|DMD_uc004dcx.2_Missense_Mutation_p.R850Q|DMD_uc004dcz.2_Missense_Mutation_p.R2068Q|DMD_uc004dcy.1_Missense_Mutation_p.R2187Q|DMD_uc004ddb.1_Missense_Mutation_p.R2183Q|DMD_uc010ngo.1_Missense_Mutation_p.R100Q|DMD_uc010ngn.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2191	Spectrin 15.		R -> W.		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCCTGCCACCGCAGATTCAG	0.408													T	31986498	C	T	31986498	3	4	65	1	0	0	0	0	1	0	0	0	4580	652	23	1	4773	1	DMD	23	31986498	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	3987281	31986498	123284062	1053	47879											
DMD	1756	broad.mit.edu	37	chrX	32481587	32481587	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatcccactgagtgttaAgttctttgagttctgtctca	9	8	3	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:32481587A>C	uc004dda.1	-	25	3645	c.3401T>G	c.(3400-3402)CTT>CGT	p.L1134R	DMD_uc004dcz.2_Missense_Mutation_p.L1011R|DMD_uc004dcy.1_Missense_Mutation_p.L1130R|DMD_uc004ddb.1_Missense_Mutation_p.L1126R|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1134	Spectrin 7.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGAGTGTTAAGTTCTTTGAG	0.433													C	32481587	A	C	32481587	3	2	65	1	0	0	0	0	1	0	0	0	4580	72	3	5	8119	5	DMD	23	32481587	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	495089	32481587	122788973	1054	47880											
CYBB	1536	broad.mit.edu	37	chrX	37655252	37655252	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaccctgttggcaggcatcActggagttgtcatcacgctg	12	11	3	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:37655252A>G	uc004ddr.2	+	6	593	c.532A>G	c.(532-534)ACT>GCT	p.T178A	CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.T146A|CYBB_uc011mkg.1_Intron	NM_000397	NP_000388	P04839	CY24B_HUMAN	cytochrome b-245 beta polypeptide	178	Helical; (Potential).|Ferric oxidoreductase.		T -> P (in AMCBX2).		electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						GGCAGGCATCACTGGAGTTGT	0.368													G	37655252	A	G	37655252	3	3	65	1	0	0	0	0	1	0	0	0	4133	159	6	3	554	3	CYBB	23	37655252	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	5173665	37655252	117615308	1055	47881											
MED14	9282	broad.mit.edu	37	chrX	40522275	40522275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaactacctgccaggccggGcacaaggcctggagttggag	15	11	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:40522275G>A	uc004dex.3	-	26	3726	c.3586C>T	c.(3586-3588)CCC>TCC	p.P1196S	MED14_uc004dey.1_Missense_Mutation_p.P98S	NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	1196					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4						GCCAGGCCGGGCACAAGGCCT	0.488													A	40522275	G	A	40522275	3	1	65	1	0	0	0	0	1	0	0	0	9432	1203	42	2	802	2	MED14	23	40522275	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2867023	40522275	114748285	1056	47882											
CASK	8573	broad.mit.edu	37	chrX	41420817	41420817	+	Frame_Shift_Del	DEL	T	T	-													ctttcatttacttacaagcaTtttttgcagttgttccactg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:41420816_41420816AT>A	uc004dfk.4	-	11	1235	c.1109_1109AT>T	c.(1108-1110)atgfs	p.M370fs	CASK_uc004dfj.4_Frame_Shift_Del_p.M118fs|CASK_uc004dfl.4_Frame_Shift_Del_p.M555fs|CASK_uc004dfm.4_Frame_Shift_Del_p.M555fs|CASK_uc004dfn.4_Frame_Shift_Del_p.M549fs	NM_003688	NP_003679	O14936	CSKP_HUMAN	Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA.	555	L27 1.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						ACTTACAAGCATTTTTTGCAG	0.303													-	41420817	T	-	41420817	7	5	65	1	0	1	0	1	0	0	0	0	2665	1493	52	0	1161	0	CASK	23	41420817	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	898542	41420817	113849743	1057	47883											
ZNF674	641339	broad.mit.edu	37	chrX	46387797	46387797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcacctgcacaggtccGtaccggggtccctccatctg	10	17	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:46387797G>A	uc004dgr.2	-	5	453	c.226C>T	c.(226-228)CGG>TGG	p.R76W	ZNF674_uc011mlg.1_Missense_Mutation_p.R76W|ZNF674_uc010nhm.2_Missense_Mutation_p.R76W	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN	zinc finger family member 674 isoform 1	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						GCACAGGTCCGTACCGGGGTC	0.587													A	46387797	G	A	46387797	3	1	65	1	0	0	0	0	1	0	0	0	18078	1144	40	1	1527	1	ZNF674	23	46387797	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	4966980	46387797	108882763	1058	47884											
TBC1D25	4943	broad.mit.edu	37	chrX	48417659	48417659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcacacgtacctgaaccaCgagggccagctctcccgacc	8	17	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:48417659C>T	uc004dka.1	+	5	741	c.630C>T	c.(628-630)CAC>CAT	p.H210H	TBC1D25_uc011mly.1_Silent_p.H152H|TBC1D25_uc004dkb.1_Translation_Start_Site|TBC1D25_uc011mlz.1_Translation_Start_Site|TBC1D25_uc011mma.1_Translation_Start_Site|TBC1D25_uc004dkc.1_Translation_Start_Site|TBC1D25_uc011mmb.1_Silent_p.H214H|TBC1D25_uc011mmc.1_Translation_Start_Site|TBC1D25_uc011mmd.1_Translation_Start_Site	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	210						intracellular	Rab GTPase activator activity			ovary(1)	1						ACCTGAACCACGAGGGCCAGC	0.582													T	48417659	C	T	48417659	2	4	65	1	0	0	0	0	0	0	0	1	15612	535	19	1		1	TBC1D25	23	48417659	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2029862	48417659	106852901	1059	47885											
HDAC6	10013	broad.mit.edu	37	chrX	48674553	48674553	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccccactgctagccaccAccctgaggtaccccagcgca	7	19	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:48674553A>G	uc011mmi.1	+	18	1594	c.1499A>G	c.(1498-1500)CAC>CGC	p.H500R	HDAC6_uc004dks.1_Missense_Mutation_p.H500R|HDAC6_uc010nig.1_Missense_Mutation_p.H348R|HDAC6_uc004dkt.1_Missense_Mutation_p.H500R|HDAC6_uc011mmk.1_Missense_Mutation_p.H481R|HDAC6_uc004dkv.1_Missense_Mutation_p.H148R|HDAC6_uc004dkw.1_Missense_Mutation_p.H148R	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	500	Histone deacetylase 2.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4					Vorinostat(DB02546)	GCTAGCCACCACCCTGAGGTA	0.647													G	48674553	A	G	48674553	3	3	65	1	0	0	0	0	1	0	0	0	7011	159	6	3	1565	3	HDAC6	23	48674553	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	256894	48674553	106596007	1060	47886											
PQBP1	10084	broad.mit.edu	37	chrX	48759692	48759692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagagagcgagacagggaaCgggatcgggaccgcgggtat	19	7	0	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:48759692C>T	uc004dle.2	+	5	664	c.475C>T	c.(475-477)CGG>TGG	p.R159W	PQBP1_uc004dlf.2_Missense_Mutation_p.R159W|PQBP1_uc004dlg.2_Missense_Mutation_p.R159W|PQBP1_uc004dld.2_Intron|PQBP1_uc004dlh.2_Missense_Mutation_p.R159W|PQBP1_uc004dli.2_Missense_Mutation_p.R159W|PQBP1_uc004dlj.1_Missense_Mutation_p.R159W|PQBP1_uc004dln.2_Missense_Mutation_p.R159W|PQBP1_uc010nih.2_RNA|PQBP1_uc010nii.2_Missense_Mutation_p.R117W|PQBP1_uc004dlk.2_Intron|PQBP1_uc004dll.2_Intron|PQBP1_uc004dlm.2_Missense_Mutation_p.R117W|PQBP1_uc010nij.2_Intron	NM_001032382	NP_001027554	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	159	3-5.|Arg-rich.|7 X 2 AA tandem repeats of [DE]-R.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity			large_intestine(1)	1						AGACAGGGAACGGGATCGGGA	0.617													T	48759692	C	T	48759692	3	4	65	1	0	0	0	0	1	0	0	0	12417	527	19	1	489	1	PQBP1	23	48759692	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	85139	48759692	106510868	1061	47887											
WDR45	11152	broad.mit.edu	37	chrX	48933234	48933234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagggtcagtgcctcggCgcagctccaccagtttctcc	12	15	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:48933234C>T	uc004dmk.1	-	8	867	c.695G>A	c.(694-696)CGC>CAC	p.R232H	PRAF2_uc004dmh.2_5'Flank|PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Missense_Mutation_p.R130H|WDR45_uc004dmj.1_Missense_Mutation_p.R193H|WDR45_uc004dml.1_Missense_Mutation_p.R233H|WDR45_uc004dmm.1_Missense_Mutation_p.R197H|WDR45_uc010nim.1_Missense_Mutation_p.R232H|WDR45_uc004dmn.1_Missense_Mutation_p.R123H|WDR45_uc004dmo.1_Missense_Mutation_p.R255H|WDR45_uc004dmp.1_Missense_Mutation_p.R233H	NM_001029896	NP_001025067	Q9Y484	WIPI4_HUMAN	WD repeat domain 45 isoform 2	232					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			ovary(1)	1						AGTGCCTCGGCGCAGCTCCAC	0.567													T	48933234	C	T	48933234	3	4	65	1	0	0	0	0	1	0	0	0	17294	768	27	1	403	1	WDR45	23	48933234	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	173542	48933234	106337326	1062	47888											
GPKOW	27238	broad.mit.edu	37	chrX	48973467	48973467	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaccacccggctccccAcagccagacgaaccatggcc	8	20	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:48973467A>G	uc004dmr.2	-	6	837	c.830T>C	c.(829-831)GTG>GCG	p.V277A		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	277						nucleus	nucleic acid binding			ovary(2)	2						CCGGCTCCCCACAGCCAGACG	0.552													G	48973467	A	G	48973467	3	3	65	1	0	0	0	0	1	0	0	0	6613	159	6	3	624	3	GPKOW	23	48973467	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	40233	48973467	106297093	1063	47889											
DGKK	139189	broad.mit.edu	37	chrX	50136226	50136226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgaattttcggaggaagaCgatcccctgatgatcgccac	10	11	0	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:50136226C>T	uc010njr.1	-	9	1579	c.1519G>A	c.(1519-1521)GTC>ATC	p.V507I		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	507	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					CGGAGGAAGACGATCCCCTGA	0.453													T	50136226	C	T	50136226	3	4	65	1	0	0	0	0	1	0	0	0	4472	536	19	1	2375	1	DGKK	23	50136226	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1162759	50136226	105134334	1064	47890											
KDM5C	8242	broad.mit.edu	37	chrX	53240993	53240993	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgggcatgttgaagtagtcAgctttaaaggagtcggccat	13	7	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:53240993A>G	uc004drz.2	-	9	1751	c.1218T>C	c.(1216-1218)GCT>GCC	p.A406A	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Silent_p.A339A|KDM5C_uc004dsa.2_Silent_p.A405A	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	406					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						TGAAGTAGTCAGCTTTAAAGG	0.537			N|F|S		clear cell renal carcinoma								G	53240993	A	G	53240993	2	3	65	1	0	0	0	0	0	0	0	1	8135	175	7	3		3	KDM5C	23	53240993	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	3104767	53240993	102029567	1065	47891											
IQSEC2	23096	broad.mit.edu	37	chrX	53279577	53279577	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagtctgcttgcacaggccGgtagccggaggctcccttag	13	12	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:53279577G>A	uc004dsd.2	-	5	2382	c.2181C>T	c.(2179-2181)ACC>ACT	p.T727T	IQSEC2_uc004dsc.2_Silent_p.T522T	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	717					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						TGCACAGGCCGGTAGCCGGAG	0.577													A	53279577	G	A	53279577	2	1	65	1	0	0	0	0	0	0	0	1	7818	1103	39	1		1	IQSEC2	23	53279577	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	38584	53279577	101990983	1066	47892											
FAM120C	54954	broad.mit.edu	37	chrX	54209257	54209257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccatagagccgcggcagCgccgagccggcgtccaccag	14	18	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:54209257C>T	uc004dsz.3	-	1	458	c.375G>A	c.(373-375)GCG>GCA	p.A125A	FAM120C_uc011moh.1_Silent_p.A125A|FAM120C_uc004dta.2_Silent_p.A125A	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	125										ovary(1)|central_nervous_system(1)	2						GCCGCGGCAGCGCCGAGCCGG	0.721													T	54209257	C	T	54209257	2	4	65	1	0	0	0	0	0	0	0	1	5418	755	27	1		1	FAM120C	23	54209257	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	929680	54209257	101061303	1067	47893											
PFKFB1	5207	broad.mit.edu	37	chrX	54986275	54986275	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaccgcaacatgaccttcCtcatggctgagatagttgtg	9	10	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:54986275C>T	uc004dty.1	-	4	440	c.369G>A	c.(367-369)GAG>GAA	p.E123E	PFKFB1_uc010nkd.1_Silent_p.E109E|PFKFB1_uc011mol.1_Silent_p.E58E	NM_002625	NP_002616	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,	123	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(1)	1						CATGACCTTCCTCATGGCTGA	0.378													T	54986275	C	T	54986275	2	4	65	1	0	0	0	0	0	0	0	1	11760	680	24	4		4	PFKFB1	23	54986275	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	777018	54986275	100284285	1068	47894											
ALAS2	212	broad.mit.edu	37	chrX	55042055	55042055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttatgcataattccatcaCgctccccaatcccagcgccc	4	18	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:55042055C>T	uc004dua.3	-	8	1262	c.1124G>A	c.(1123-1125)CGT>CAT	p.R375H	ALAS2_uc004dub.3_Missense_Mutation_p.R362H|ALAS2_uc004dud.3_Missense_Mutation_p.R338H	NM_000032	NP_000023	P22557	HEM0_HUMAN	5-aminolevulinate synthase 2 isoform a	375					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(1)	1					Glycine(DB00145)	AATTCCATCACGCTCCCCAAT	0.517													T	55042055	C	T	55042055	3	4	65	1	0	0	0	0	1	0	0	0	485	536	19	1	655	1	ALAS2	23	55042055	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	55780	55042055	100228505	1069	47895											
ALAS2	212	broad.mit.edu	37	chrX	55052394	55052394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgtggggccccgggcaaGcactgggcagcactgtagca	16	12	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:55052394G>A	uc004dua.3	-	2	178	c.40C>T	c.(40-42)CTT>TTT	p.L14F	ALAS2_uc004dub.3_Missense_Mutation_p.L38F|ALAS2_uc004dud.3_Missense_Mutation_p.L14F	NM_000032	NP_000023	P22557	HEM0_HUMAN	5-aminolevulinate synthase 2 isoform a	14					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(1)	1					Glycine(DB00145)	CCCCGGGCAAGCACTGGGCAG	0.557													A	55052394	G	A	55052394	3	1	65	1	0	0	0	0	1	0	0	0	485	971	34	2	1763	2	ALAS2	23	55052394	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	10339	55052394	100218166	1070	47896											
USP51	158880	broad.mit.edu	37	chrX	55515175	55515175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaagttctcctccggcgcGggctcacgctcttgtaatgg	12	13	4	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:55515175G>A	uc004dun.1	-	2	277	c.198C>T	c.(196-198)CCC>CCT	p.P66P	USP51_uc011moo.1_Silent_p.P11P	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	66					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						CCTCCGGCGCGGGCTCACGCT	0.647													A	55515175	G	A	55515175	2	1	65	1	0	0	0	0	0	0	0	1	17080	1103	39	1		1	USP51	23	55515175	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	462781	55515175	99755385	1071	47897											
MSN	4478	broad.mit.edu	37	chrX	64887722	64887722	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccaccatgcccaaaacggTgagtgccggaggtgggcgct	15	13	0	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:64887722T>C	uc004dwf.2	+	1	210	c.12_splice	c.e1+2	p.T4_splice		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin						leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						CCCAAAACGGTGAGTGCCGGA	0.642			T	ALK	ALCL								C	64887722	T	C	64887722	5	2	65	1	0	0	0	0	0	0	1	0	9885	1710	59	3	16	3	MSN	23	64887722	Splice_Site	SNP	T	TCGA-BR-8081-01A-11D-2340-08	9372547	64887722	90382838	1072	47898											
RAB41	347517	broad.mit.edu	37	chrX	69502190	69502190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttattcctgggagagcagagCggtgtgggtctgggttgggc	19	6	1	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:69502190C>T	uc004dyc.2	+	1	123	c.123C>T	c.(121-123)AGC>AGT	p.S41S	RAB41_uc010nkv.2_Silent_p.S31S	NM_001032726	NP_001027898	Q5JT25	RAB41_HUMAN	RAB41, member RAS oncogene family	41	GTP (By similarity).				protein transport|small GTPase mediated signal transduction		GTP binding			ovary(2)|breast(2)	4						GAGAGCAGAGCGGTGTGGGTC	0.552													T	69502190	C	T	69502190	2	4	65	1	0	0	0	0	0	0	0	1	12943	782	27	1		1	RAB41	23	69502190	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	4614468	69502190	85768370	1073	47899											
SLC7A3	84889	broad.mit.edu	37	chrX	70149828	70149828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcttttgaccaaatctgCgaaatgcttgccacggcatc	8	13	1	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:70149828C>T	uc004dyn.2	-	2	178	c.20G>A	c.(19-21)CGC>CAC	p.R7H	SLC7A3_uc004dyo.2_Missense_Mutation_p.R7H	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid	7	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				ovary(1)|kidney(1)	2	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACCAAATCTGCGAAATGCTTG	0.502													T	70149828	C	T	70149828	3	4	65	1	0	0	0	0	1	0	0	0	14698	768	27	1	1883	1	SLC7A3	23	70149828	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	647638	70149828	85120732	1074	47900											
FOXO4	4303	broad.mit.edu	37	chrX	70316714	70316714	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatgcagaactcatcagccaGgccattgaaagcgccccgga	10	13	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:70316714G>T	uc004dys.1	+	1	689	c.336G>T	c.(334-336)CAG>CAT	p.Q112H	FOXO4_uc010nkz.2_Missense_Mutation_p.Q112H|FOXO4_uc004dyt.1_Splice_Site_p.A58_splice	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	112	Fork-head.				cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(2)|prostate(1)	3	Renal(35;0.156)					TCATCAGCCAGGCCATTGAAA	0.587													T	70316714	G	T	70316714	3	4	65	1	0	0	0	0	1	0	0	0	6025	1014	35	5	338	5	FOXO4	23	70316714	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	166886	70316714	84953846	1075	47901											
CXorf65	158830	broad.mit.edu	37	chrX	70326403	70326403	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatgtttgatgaagatgaAcatgccctcaagatcgcctc	8	11	1	5			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:70326403A>G	uc011mpo.1	-	1	18	c.4T>C	c.(4-6)TTC>CTC	p.F2L	CXorf65_uc011mpp.1_5'UTR	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN	hypothetical protein LOC158830	2										central_nervous_system(1)	1						ATGAAGATGAACATGCCCTCA	0.537													G	70326403	A	G	70326403	3	3	65	1	0	0	0	0	1	0	0	0	4117	43	2	3	571	3	CXorf65	23	70326403	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	9689	70326403	84944157	1076	47902											
MED12	9968	broad.mit.edu	37	chrX	70356410	70356410	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggctccagagccccccaaaActgacaaaccgggggctgct	11	15	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:70356410A>C	uc004dyy.2	+	37	5504	c.5305A>C	c.(5305-5307)ACT>CCT	p.T1769P	MED12_uc011mpq.1_Missense_Mutation_p.T1769P|MED12_uc004dyz.2_Missense_Mutation_p.T1769P|MED12_uc004dza.2_Missense_Mutation_p.T1616P|MED12_uc010nla.2_Missense_Mutation_p.T395P	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1769	Pro-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					GCCCCCCAAAACTGACAAACC	0.592													C	70356410	A	C	70356410	3	2	65	1	0	0	0	0	1	0	0	0	9428	43	2	5	5451	5	MED12	23	70356410	Missense_Mutation	SNP	A	TCGA-BR-8081-01A-11D-2340-08	30007	70356410	84914150	1077	47903											
MED12	9968	broad.mit.edu	37	chrX	70360600	70360608	+	In_Frame_Del	DEL	CAGCAGCAA	CAGCAGCAA	-													tcctacctgagcagcagcagCagcagcaacagcagcaacag					rs77728008		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:70360599_70360607GCAGCAGCAA>G	uc004dyy.3	+	41	6358_6366	c.6159_6167GCAGCAGCAA>G	c.(6157-6168)cagcagcagcaa>caGa	p.2053_2056QQQQ>Q	MED12_uc004dyz.3_In_Frame_Del_p.2052_2055QQQQ>Q|MED12_uc004dza.3_In_Frame_Del_p.1903_1906QQQQ>Q|MED12_uc010nla.3_In_Frame_Del_p.682_685QQQQ>Q	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	2053	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					agcagcagcagcagcagcaacagcagcaa	0.598			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						-	70360608	CAGCAGCAA	-	70360600	7	5	65	1	0	1	0	1	0	0	0	0	9428	711	25	0	6326	0	MED12	23	70360600	In_Frame_Del	DEL	CAGCAGCAA	TCGA-BR-8081-01A-11D-2340-08	4190	70360600	84909960	1078	47904											
MAGEE2	139599	broad.mit.edu	37	chrX	75004754	75004754	+	Frame_Shift_Del	DEL	G	G	-													gattggcgcctgagggcactGgggggcatcaacgactagca							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:75004753_75004753TG>T	uc004ecj.2	-	0	327	c.134_134CA>A	c.(133-135)cagfs	p.Q45fs		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	45								p.Q45L(2)|p.Q45fs*27(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGAGGGCACTGGGGGGCATC	0.587													-	75004754	G	-	75004754	7	5	65	1	0	1	0	1	0	0	0	0	9186	1357	47	0	1442	0	MAGEE2	23	75004754	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	4644154	75004754	80265806	1079	47905											
ATP7A	538	broad.mit.edu	37	chrX	77267084	77267084	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagaaatgatcaacctTcattcttctatgttcctgga	6	8	4	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:77267084T>C	uc004ecx.3	+	9	2245	c.2085T>C	c.(2083-2085)CTT>CTC	p.L695L	ATP7A_uc004ecw.2_3'UTR	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	695	Extracellular (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						TGATCAACCTTCATTCTTCTA	0.388													C	77267084	T	C	77267084	2	2	65	1	0	0	0	0	0	0	0	1	1190	1770	62	3		3	ATP7A	23	77267084	Silent	SNP	T	TCGA-BR-8081-01A-11D-2340-08	2262330	77267084	78003476	1080	47906											
NAP1L3	4675	broad.mit.edu	37	chrX	92927974	92927974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcttgaatgtttctaagCgcttgcacacgatttctaac	6	10	4	1	rs139070318		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:92927974C>T	uc004efq.2	-	1	635	c.330G>A	c.(328-330)GCG>GCA	p.A110A	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	110					nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2						TGTTTCTAAGCGCTTGCACAC	0.468													T	92927974	C	T	92927974	2	4	65	1	0	0	0	0	0	0	0	1	10158	755	27	1		1	NAP1L3	23	92927974	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	15660890	92927974	62342586	1081	47907											
TNMD	64102	broad.mit.edu	37	chrX	99854133	99854133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgaaagtagagaagacccGtcacgccagacaagcaagtg	12	9	1	4			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:99854133G>A	uc004efy.3	+	6	924	c.698G>A	c.(697-699)CGT>CAT	p.R233H	TNMD_uc004efz.2_3'UTR	NM_022144	NP_071427	Q9H2S6	TNMD_HUMAN	tenomodulin	233	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1						GAGAAGACCCGTCACGCCAGA	0.428													A	99854133	G	A	99854133	3	1	65	1	0	0	0	0	1	0	0	0	16319	1145	40	1	720	1	TNMD	23	99854133	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	6926159	99854133	55416427	1082	47908											
NOX1	27035	broad.mit.edu	37	chrX	100117698	100117698	+	Frame_Shift_Del	DEL	T	T	-													gatttagccaagaaccccccTttttctcatcatgagatagg							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:100117697_100117697CT>C	uc004egj.3	-	4	656	c.450_450AG>G	c.(448-450)aagfs	p.K150fs	NOX1_uc004egl.4_Frame_Shift_Del_p.K150fs|NOX1_uc010nne.3_Frame_Shift_Del_p.K113fs	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	150	Ferric oxidoreductase.				FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						AAGAACCCCCCTTTTTCTCAT	0.502													-	100117698	T	-	100117698	7	5	65	1	0	1	0	1	0	0	0	0	10556	1609	56	0	1281	0	NOX1	23	100117698	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	263565	100117698	55152862	1083	47909											
MORC4	79710	broad.mit.edu	37	chrX	106186092	106186093	+	Frame_Shift_Del	DEL	CT	CT	-													tttgtttatggttgtgctacCtctgttagattcttctgcca					rs113069970		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:106186091_106186092CCT>C	uc004emu.4	-	14	2304_2305	c.2029_2030AGG>G	c.(2029-2031)ggtfs	p.G677fs	MORC4_uc004emp.4_Intron|MORC4_uc004emv.4_Frame_Shift_Del_p.G677fs|MORC4_uc004emw.4_Frame_Shift_Del_p.G425fs	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.	677							ATP binding|zinc ion binding	p.Q677*(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GGTTGTGCTACCTCTGTTAGAT	0.47													-	106186093	CT	-	106186092	7	5	65	1	0	1	0	1	0	0	0	0	9704	681	24	0	796	0	MORC4	23	106186092	Frame_Shift_Del	DEL	CT	TCGA-BR-8081-01A-11D-2340-08	6068394	106186092	49084468	1084	47910											
MID2	11043	broad.mit.edu	37	chrX	107169389	107169389	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatctccaatgatggattgCagatggagaaggatgaaagc	13	5	1	5			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:107169389C>T	uc004enl.2	+	9	2236	c.1663C>T	c.(1663-1665)CAG>TAG	p.Q555*	MID2_uc004enk.2_Nonsense_Mutation_p.Q525*	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	midline 2 isoform 1	555	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			ovary(1)	1						TGATGGATTGCAGATGGAGAA	0.408													T	107169389	C	T	107169389	4	4	65	1	0	0	0	0	0	1	0	0	9578	711	25	2	1697	2	MID2	23	107169389	Nonsense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	983297	107169389	48101171	1085	47911											
COL4A6	1288	broad.mit.edu	37	chrX	107423838	107423838	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggggtcccagggaggcctcGagaccctttagggcctgaaa	15	11	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:107423838G>A	uc004enw.3	-	25	2144	c.2041C>T	c.(2041-2043)CGA>TGA	p.R681*	COL4A6_uc004env.3_Nonsense_Mutation_p.R680*|COL4A6_uc011msn.1_Nonsense_Mutation_p.R680*|COL4A6_uc010npk.2_Nonsense_Mutation_p.R680*	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	681	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						GGGAGGCCTCGAGACCCTTTA	0.507									Alport_syndrome_with_Diffuse_Leiomyomatosis				A	107423838	G	A	107423838	4	1	65	1	0	0	0	0	0	1	0	0	3695	1066	37	1	3118	1	COL4A6	23	107423838	Nonsense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	254449	107423838	47846722	1086	47912											
GUCY2F	2986	broad.mit.edu	37	chrX	108635326	108635326	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctttttgagagattcagcAactgatctgaaaagcagaca	8	9	2	5			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:108635326A>G	uc004eod.3	-	14	2871	c.2595T>C	c.(2593-2595)GTT>GTC	p.V865V	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	865	Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						GAGATTCAGCAACTGATCTGA	0.443													G	108635326	A	G	108635326	2	3	65	1	0	0	0	0	0	0	0	1	6898	117	5	3		3	GUCY2F	23	108635326	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	1211488	108635326	46635234	1087	47913											
SLC25A43	203427	broad.mit.edu	37	chrX	118540544	118540544	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctacagacctcatcaaaaccCggttgatcatgcagaacata	6	12	3	3			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:118540544C>A	uc004erd.2	+	2	741	c.397C>A	c.(397-399)CGG>AGG	p.R133R	SLC25A43_uc004erc.1_RNA|SLC25A43_uc011mtt.1_Silent_p.R133R	NM_145305	NP_660348	Q8WUT9	S2543_HUMAN	mitochondrial solute carrier protein	133	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			skin(1)	1						CATCAAAACCCGGTTGATCAT	0.502													A	118540544	C	A	118540544	2	1	65	1	0	0	0	0	0	0	0	1	14508	643	23	5		5	SLC25A43	23	118540544	Silent	SNP	C	TCGA-BR-8081-01A-11D-2340-08	9905218	118540544	36730016	1088	47914											
ODZ1	10178	broad.mit.edu	37	chrX	123787483	123787483	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgccataaattcccagcagaGagtccttggctaaagaaata	8	9	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:123787483G>T	uc004euj.2	-	7	1383	c.1319C>A	c.(1318-1320)TCT>TAT	p.S440Y	ODZ1_uc011muj.1_Missense_Mutation_p.S439Y|ODZ1_uc010nqy.2_Missense_Mutation_p.S440Y	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	440	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TCCCAGCAGAGAGTCCTTGGC	0.393													T	123787483	G	T	123787483	3	4	65	1	0	0	0	0	1	0	0	0	10834	942	33	5	6983	5	ODZ1	23	123787483	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	5246939	123787483	31483077	1089	47915											
BCORL1	63035	broad.mit.edu	37	chrX	129147983	129147983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccacctctgcacccatccCggcctccttcagtttgagta	6	18	2	1			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:129147983C>T	uc004evb.1	+	4	1349	c.1235C>T	c.(1234-1236)CCG>CTG	p.P412L	BCORL1_uc010nrd.1_Missense_Mutation_p.P314L	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	412	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						gcacccatcccggcctccTTC	0.254													T	129147983	C	T	129147983	3	4	65	1	0	0	0	0	1	0	0	0	1387	652	23	1	1245	1	BCORL1	23	129147983	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	5360500	129147983	26122577	1090	47916											
ZNF280C	55609	broad.mit.edu	37	chrX	129364678	129364678	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaattactcccaaaaatttAgttatcatgtctggacaaca	4	9	2	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:129364678A>G	uc004evm.2	-	9	949	c.795T>C	c.(793-795)ACT>ACC	p.T265T	ZNF280C_uc010nrf.1_Silent_p.T265T	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3						CCAAAAATTTAGTTATCATGT	0.323													G	129364678	A	G	129364678	2	3	65	1	0	0	0	0	0	0	0	1	17813	407	15	3		3	ZNF280C	23	129364678	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	216695	129364678	25905882	1091	47917											
ZNF280C	55609	broad.mit.edu	37	chrX	129370543	129370544	+	Frame_Shift_Ins	INS	-	-	T													catcttcactggtctttggtINSttttttggagtaacactgtt							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:129370542_129370543G>GT	uc004evm.3	-	6	767_768	c.564_565C>AC	c.(562-567)aaaccafs	p.K188fs	ZNF280C_uc010nrf.2_Frame_Shift_Ins_p.K188fs	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	188	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						CTGGTCTTTGGTTTTTTTGGAG	0.361													T	129370544	-	T	129370543	7	5	65	1	0	1	1	0	0	0	0	0	17813	1722	60	0	1701	0	ZNF280C	23	129370543	Frame_Shift_Ins	INS	-	TCGA-BR-8081-01A-11D-2340-08	5865	129370543	25900017	1092	47918											
HS6ST2	90161	broad.mit.edu	37	chrX	132092382	132092382	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcgcgaaaagcggggcGcacgcggctcccgccaggga	17	14	0	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:132092382G>A	uc011mve.1	-	2	665	c.249C>T	c.(247-249)TGC>TGT	p.C83C	HS6ST2_uc011mvb.1_5'Flank|HS6ST2_uc011mvc.1_5'Flank|HS6ST2_uc011mvd.1_Silent_p.C83C	NM_147175	NP_671704	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2 isoform	83	Lumenal (Potential).					integral to membrane	sulfotransferase activity				0	Acute lymphoblastic leukemia(192;0.000127)					AAAGCGGGGCGCACGCGGCTC	0.721													A	132092382	G	A	132092382	2	1	65	1	0	0	0	0	0	0	0	1	7371	1079	38	1		1	HS6ST2	23	132092382	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	2721839	132092382	23178178	1093	47919											
FAM127C	441518	broad.mit.edu	37	chrX	134156235	134156235	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgaggagggggctctccttCttgatgtaggggatcaccca	14	10	3	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:134156235C>A	uc004eyc.1	-	1	332	c.255G>T	c.(253-255)AAG>AAT	p.K85N		NM_001078173	NP_001071641	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	85											0	Acute lymphoblastic leukemia(192;0.000127)					GGCTCTCCTTCTTGATGTAGG	0.617													A	134156235	C	A	134156235	3	1	65	1	0	0	0	0	1	0	0	0	5433	912	32	5	90	5	FAM127C	23	134156235	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	2063853	134156235	21114325	1094	47920											
MAP7D3	79649	broad.mit.edu	37	chrX	135314030	135314030	+	Frame_Shift_Del	DEL	G	G	-													agtgcttctatgctcaactcGggggatgcgtccatgctcat							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:135314029_135314029CG>C	uc004ezt.3	-	7	1308	c.1087_1087CG>G	c.(1087-1089)gagfs	p.E363fs	MAP7D3_uc004ezs.3_Frame_Shift_Del_p.E328fs|MAP7D3_uc011mwc.2_Frame_Shift_Del_p.E345fs|MAP7D3_uc010nsa.2_Frame_Shift_Del_p.E321fs	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	363						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ATGCTCAACTCGGGGGATGCG	0.592													-	135314030	G	-	135314030	7	5	65	1	0	1	0	1	0	0	0	0	9269	1103	39	0	1588	0	MAP7D3	23	135314030	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	1157795	135314030	19956530	1095	47921											
CXorf66	347487	broad.mit.edu	37	chrX	139038625	139038625	+	Frame_Shift_Del	DEL	T	T	-													aggtgagatgacttgcttaaTttttttgagcatgatgactt							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:139038624_139038624AT>A	uc004fbb.3	-	2	539	c.517_517AT>T	c.(517-519)ttafs	p.L173fs		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA.	173	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GACTTGCTTAATTTTTTTGAG	0.408													-	139038625	T	-	139038625	7	5	65	1	0	1	0	1	0	0	0	0	4118	1490	52	0	573	0	CXorf66	23	139038625	Frame_Shift_Del	DEL	T	TCGA-BR-8081-01A-11D-2340-08	3724595	139038625	16231935	1096	47922											
FMR1NB	158521	broad.mit.edu	37	chrX	147062865	147062865	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccggaagcttctgggccaCggactgccggaccgttgggc	15	15	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:147062865C>T	uc004fcm.2	+	1	17	c.-57C>T	c.(-59--55)CACGG>CATGG			NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor							integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGGGCCACGGACTGCCGG	0.662													T	147062865	C	T	147062865	1	4	65	1	0	0	0	0	0	0	0	0	5961	551	19	1		1	FMR1NB	23	147062865	Translation_Start_Site	SNP	C	TCGA-BR-8081-01A-11D-2340-08	8024240	147062865	8207695	1097	47923											
MAGEA11	4110	broad.mit.edu	37	chrX	148797716	148797716	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccatggatgccatctttggGagcctatctgatgagggctc	13	10	2	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:148797716G>A	uc004fdq.2	+	5	672	c.570G>A	c.(568-570)GGG>GGA	p.G190G	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Silent_p.G161G	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	190						cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCATCTTTGGGAGCCTATCTG	0.547													A	148797716	G	A	148797716	2	1	65	1	0	0	0	0	0	0	0	1	9165	1161	41	4		4	MAGEA11	23	148797716	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	1734851	148797716	6472844	1098	47924											
MAGEA10	4109	broad.mit.edu	37	chrX	151303922	151303922	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcaggaggaggaggaggaAgaggaggaggagggaaaaga	22	1	0	2			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:151303922A>G	uc004ffk.2	-	5	579	c.171T>C	c.(169-171)TCT>TCC	p.S57S	MAGEA10_uc004ffl.2_Silent_p.S57S	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	57	Poly-Ser.										0	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaggaagaggaggagg	0.413													G	151303922	A	G	151303922	2	3	65	1	0	0	0	0	0	0	0	1	9164	59	3	3		3	MAGEA10	23	151303922	Silent	SNP	A	TCGA-BR-8081-01A-11D-2340-08	2506206	151303922	3966638	1099	47925											
FAM58A	92002	broad.mit.edu	37	chrX	152860096	152860096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccggagttcccagaagCgggagtccaattccaggggc	14	12	0	1	rs150562029	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:152860096C>T	uc010nug.2	-	2	255	c.152G>A	c.(151-153)CGC>CAC	p.R51H				Q8N1B3	FA58A_HUMAN	RecName: Full=Cyclin-related protein FAM58B;	113					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCCCAGAAGCGGGAGTCCAA	0.562													T	152860096	C	T	152860096	3	4	65	1	0	0	0	0	1	0	0	0	5590	768	27	1	420	1	FAM58A	23	152860096	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	1556174	152860096	2410464	1100	47926											
DUSP9	1852	broad.mit.edu	37	chrX	152915674	152915674	+	Frame_Shift_Del	DEL	G	G	-													actcgcaggagcagggcagtGgggggcaggcatctgcggcc							TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:152915673_152915673TG>T	uc004fhx.4	+	3	1272	c.1068_1068TG>T	c.(1066-1068)agtfs	p.S356fs	DUSP9_uc004fhy.4_Frame_Shift_Del_p.S356fs	NM_001395	NP_001386	Q99956	DUS9_HUMAN	Homo sapiens dual specificity phosphatase 9 (DUSP9), mRNA.	356	Tyrosine-protein phosphatase.				JNK cascade|inactivation of MAPK activity	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.S356I(1)|p.G355S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGGGCAGTGGGGGGCAGG	0.657													-	152915674	G	-	152915674	7	5	65	1	0	1	0	1	0	0	0	0	4832	1348	47	0	1079	0	DUSP9	23	152915674	Frame_Shift_Del	DEL	G	TCGA-BR-8081-01A-11D-2340-08	55578	152915674	2354886	1101	47927											
L1CAM	3897	broad.mit.edu	37	chrX	153128940	153128940	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccggctcacctgtactcGccgaaggtctcatctttcat	8	16	4	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:153128940G>A	uc004fjb.2	-	26	3630	c.3522C>T	c.(3520-3522)GGC>GGT	p.G1174G	L1CAM_uc004fjc.2_Silent_p.G1174G|L1CAM_uc010nuo.2_Silent_p.G1169G	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	1174	Cytoplasmic (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCTGTACTCGCCGAAGGTCT	0.612													A	153128940	G	A	153128940	2	1	65	1	0	0	0	0	0	0	0	1	8588	1074	38	1		1	L1CAM	23	153128940	Silent	SNP	G	TCGA-BR-8081-01A-11D-2340-08	213266	153128940	2141620	1102	47928											
HCFC1	3054	broad.mit.edu	37	chrX	153228708	153228708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacaggtcccccagcctgCagccactcatcccgccgtag	8	20	1	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:153228708C>T	uc004fjp.2	-	4	1208	c.680G>A	c.(679-681)TGC>TAC	p.C227Y		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	227	Kelch 4.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCAGCCTGCAGCCACTCAT	0.607													T	153228708	C	T	153228708	3	4	65	1	0	0	0	0	1	0	0	0	6991	710	25	2	5519	2	HCFC1	23	153228708	Missense_Mutation	SNP	C	TCGA-BR-8081-01A-11D-2340-08	99768	153228708	2041852	1103	47929											
UBL4A	8266	broad.mit.edu	37	chrX	153714222	153714222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagtcggccagcctctggGcctcgccttcttctagtagc	13	14	3	0			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:153714222G>A	uc004flo.2	-	3	260	c.251C>T	c.(250-252)GCC>GTC	p.A84V		NM_014235	NP_055050	P11441	UBL4A_HUMAN	ubiquitin-like 4	84					protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity				0	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGCCTCTGGGCCTCGCCTTC	0.602													A	153714222	G	A	153714222	3	1	65	1	0	0	0	0	1	0	0	0	16884	1203	42	2	230	2	UBL4A	23	153714222	Missense_Mutation	SNP	G	TCGA-BR-8081-01A-11D-2340-08	485514	153714222	1556338	1104	47930											
DFFB	1677	broad.mit.edu	37	chr1	3775293	3775293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctgcagctccctgagcgCggttcccggctgtgcctgta	12	16	0	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:3775293C>T	uc001alc.2	+	2	449	c.126C>T	c.(124-126)CGC>CGT	p.R42R	DFFB_uc001ale.2_RNA|DFFB_uc009vlp.2_RNA|DFFB_uc001alb.2_RNA|DFFB_uc010nzn.1_Silent_p.R42R|DFFB_uc009vlq.2_RNA|DFFB_uc009vlr.2_5'UTR|DFFB_uc001ald.2_5'UTR|KIAA0562_uc001aky.2_5'Flank|KIAA0562_uc010nzm.1_5'Flank|KIAA0562_uc001akz.2_5'Flank|DFFB_uc009vln.1_Silent_p.R42R|DFFB_uc001ala.1_Silent_p.R42R|DFFB_uc009vlo.1_Silent_p.R42R	NM_004402	NP_004393	O76075	DFFB_HUMAN	DNA fragmentation factor, 40 kD, beta	42	CIDE-N.				apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TCCCTGAGCGCGGTTCCCGGC	0.617													T	3775293	C	T	3775293	2	4	66	1	0	0	0	0	0	0	0	1	4453	755	27	1		1	DFFB	1	3775293	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08		3775293	245475328	1	47931											
CHD5	26038	broad.mit.edu	37	chr1	6189120	6189120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccgatgcggtgggcgcGgctgaaggcctggggagacc	20	11	0	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:6189120G>A	uc001amb.1	-	23	3497	c.3397C>T	c.(3397-3399)CGC>TGC	p.R1133C	CHD5_uc001alz.1_5'UTR|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1133	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CGGTGGGCGCGGCTGAAGGCC	0.627													A	6189120	G	A	6189120	3	1	66	1	0	0	0	0	1	0	0	0	3328	1116	39	1	2543	1	CHD5	1	6189120	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	2413827	6189120	243061501	2	47932											
PRDM2	7799	broad.mit.edu	37	chr1	14107267	14107267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctcccctccttcctaccGtacctcttccagccccctct	2	25	2	0	rs150941804	byFrequency	TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:14107267G>A	uc001avi.2	+	8	3833	c.2977G>A	c.(2977-2979)GTA>ATA	p.V993I	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.V993I|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.V792I|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	993	Pro-rich.|SH3-binding (Potential).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CCTTCCTACCGTACCTCTTCC	0.602													A	14107267	G	A	14107267	3	1	66	1	0	0	0	0	1	0	0	0	12458	1145	40	1	3003	1	PRDM2	1	14107267	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	7918147	14107267	235143354	3	47933											
PAX7	5081	broad.mit.edu	37	chr1	19062320	19062320	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacccacctacagcaccacCggctacagcgtggaccccgt	8	20	0	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:19062320C>T	uc001bay.2	+	8	1948	c.1350C>T	c.(1348-1350)ACC>ACT	p.T450T	PAX7_uc001baz.2_Silent_p.T448T|PAX7_uc010oct.1_Silent_p.T450T	NM_002584	NP_002575	P23759	PAX7_HUMAN	paired box 7 isoform 1	450					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		ACAGCACCACCGGCTACAGCG	0.677			T	FOXO1A	alveolar rhabdomyosarcoma								T	19062320	C	T	19062320	2	4	66	1	0	0	0	0	0	0	0	1	11484	639	23	1		1	PAX7	1	19062320	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	4955053	19062320	230188301	4	47934											
EPHB2	2048	broad.mit.edu	37	chr1	23191577	23191577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaggcctgaccgagccacGcatttacatcagtgacctgc	10	14	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:23191577G>A	uc009vqj.1	+	5	1320	c.1175G>A	c.(1174-1176)CGC>CAC	p.R392H	EPHB2_uc001bge.2_Missense_Mutation_p.R392H|EPHB2_uc001bgf.2_Missense_Mutation_p.R392H|EPHB2_uc010odu.1_Missense_Mutation_p.R392H|hsa-mir-4253|MI0015860_5'Flank	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	392	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACCGAGCCACGCATTTACATC	0.617									Hereditary_Prostate_Cancer				A	23191577	G	A	23191577	3	1	66	1	0	0	0	0	1	0	0	0	5175	1087	38	1	1193	1	EPHB2	1	23191577	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	4129257	23191577	226059044	5	47935											
EPHB2	2048	broad.mit.edu	37	chr1	23233321	23233321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgccgggacttcctgagCgaagcctccatcatgggcca	12	15	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:23233321C>T	uc009vqj.1	+	11	2152	c.2007C>T	c.(2005-2007)AGC>AGT	p.S669S	EPHB2_uc001bge.2_Silent_p.S670S|EPHB2_uc001bgf.2_Silent_p.S669S|EPHB2_uc010odu.1_Silent_p.S611S	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	669	Cytoplasmic (Potential).|Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACTTCCTGAGCGAAGCCTCCA	0.582									Hereditary_Prostate_Cancer				T	23233321	C	T	23233321	2	4	66	1	0	0	0	0	0	0	0	1	5175	767	27	1		1	EPHB2	1	23233321	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	41744	23233321	226017300	6	47936											
RHD	6007	broad.mit.edu	37	chr1	25617155	25617155	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggctggccaccatgagtgCtttgtcggtgctgatctcag	13	11	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:25617155C>A	uc001bjz.2	+	3	417	c.359C>A	c.(358-360)GCT>GAT	p.A120D	RHD_uc010oep.1_Missense_Mutation_p.A120D|RHD_uc001bkc.2_Missense_Mutation_p.A120D|RHD_uc009vrm.2_5'UTR|RHD_uc001bka.2_Missense_Mutation_p.A120D|RHD_uc001bkb.2_Missense_Mutation_p.A120D|RHD_uc009vrn.2_Missense_Mutation_p.A120D|RHD_uc009vro.2_Missense_Mutation_p.A120D|RHD_uc009vrp.2_Missense_Mutation_p.A120D	NM_016124	NP_057208	Q02161	RHD_HUMAN	Rh blood group D antigen isoform 1	120	Helical; (Potential).					integral to plasma membrane				breast(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACCATGAGTGCTTTGTCGGTG	0.493													A	25617155	C	A	25617155	3	1	66	1	0	0	0	0	1	0	0	0	13327	797	28	5	369	5	RHD	1	25617155	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	2383834	25617155	223633466	7	47937											
ARID1A	8289	broad.mit.edu	37	chr1	27105513	27105513	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgttctttctctttttaGctcccagggttgctagagct	8	11	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:27105513G>A	uc001bmv.1	+	20	5498	c.5125_splice	c.e20-1	p.L1709_splice	ARID1A_uc001bmu.1_Splice_Site_p.L1492_splice|ARID1A_uc001bmx.1_Splice_Site_p.L555_splice|ARID1A_uc009vsm.1_Splice_Site_p.L37_splice|ARID1A_uc009vsn.1_Splice_Site	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a						androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCTCTTTTTAGCTCCCAGGGT	0.433			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								A	27105513	G	A	27105513	5	1	66	1	0	0	0	0	0	0	1	0	913	985	34	2	5202	2	ARID1A	1	27105513	Splice_Site	SNP	G	TCGA-BR-8284-01A-11D-2340-08	1488358	27105513	222145108	8	47938											
MAP3K6	9064	broad.mit.edu	37	chr1	27685227	27685227	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggcagcctgtgggctcccGagctcgtggaagggggggcg	20	10	0	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:27685227G>A	uc001bny.1	-	19	2805	c.2556C>T	c.(2554-2556)CTC>CTT	p.L852L	MAP3K6_uc009vsw.1_Silent_p.L844L|MAP3K6_uc001bnz.1_Silent_p.L375L	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	852	Protein kinase.				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGGCTCCCGAGCTCGTGGA	0.617													A	27685227	G	A	27685227	2	1	66	1	0	0	0	0	0	0	0	1	9254	1045	37	1		1	MAP3K6	1	27685227	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	579714	27685227	221565394	9	47939											
PTPRU	10076	broad.mit.edu	37	chr1	29630479	29630479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggggcagctgcaccctgcGgtgcgtgtcgcagaccttct	14	14	1	1	rs145675393		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:29630479G>A	uc001bru.2	+	17	2729	c.2619G>A	c.(2617-2619)GCG>GCA	p.A873A	PTPRU_uc001brv.2_Silent_p.A863A|PTPRU_uc001brw.2_Silent_p.A863A|PTPRU_uc009vtq.2_Silent_p.A863A|PTPRU_uc009vtr.2_Silent_p.A863A	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	873	Mediates interaction with CTNNB1 (By similarity).|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCACCCTGCGGTGCGTGTCG	0.687													A	29630479	G	A	29630479	2	1	66	1	0	0	0	0	0	0	0	1	12813	1103	39	1		1	PTPRU	1	29630479	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	1945252	29630479	219620142	10	47940											
ZNF362	149076	broad.mit.edu	37	chr1	33741707	33741707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcttcccgcaggatggcCgagcctcgatttaacaaccc	8	16	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:33741707C>T	uc001bxc.1	+	3	215	c.45C>T	c.(43-45)GCC>GCT	p.A15A		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GCAGGATGGCCGAGCCTCGAT	0.662													T	33741707	C	T	33741707	2	4	66	1	0	0	0	0	0	0	0	1	17865	639	23	1		1	ZNF362	1	33741707	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	4111228	33741707	215508914	11	47941											
MACF1	23499	broad.mit.edu	37	chr1	39851472	39851472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttggagcagttagaccacGaggttaaggaggctcagaca	13	8	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:39851472G>A	uc010oiu.1	+	21	9666	c.9535G>A	c.(9535-9537)GAG>AAG	p.E3179K	MACF1_uc010ois.1_Missense_Mutation_p.E2677K|MACF1_uc001cda.1_Missense_Mutation_p.E2564K|MACF1_uc001cdc.1_Missense_Mutation_p.E1743K	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4744					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTTAGACCACGAGGTTAAGGA	0.502													A	39851472	G	A	39851472	3	1	66	1	0	0	0	0	1	0	0	0	9144	1059	37	1	14386	1	MACF1	1	39851472	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	6109765	39851472	209399149	12	47942											
PTCH2	8643	broad.mit.edu	37	chr1	45292608	45292608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtggtgtcgtatttgtcGtgcagccattcaggaggtgg	15	9	1	0	rs149815763	byFrequency	TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:45292608G>A	uc010olf.1	-	17	2673	c.2661C>T	c.(2659-2661)CAC>CAT	p.H887H	PTCH2_uc010olg.1_Silent_p.H585H	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	887	Extracellular (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					CGTATTTGTCGTGCAGCCATT	0.632									Basal_Cell_Nevus_syndrome				A	45292608	G	A	45292608	2	1	66	1	0	0	0	0	0	0	0	1	12731	1136	40	1		1	PTCH2	1	45292608	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	5441136	45292608	203958013	13	47943											
WDR78	79819	broad.mit.edu	37	chr1	67292680	67292681	+	Frame_Shift_Ins	INS	-	-	A													ccaatctgcagaacagcttaINSaaaatacatcatgacaaaat							TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:67292679_67292680T>TA	uc001dcx.3	-	14	2218_2219	c.2162_2163A>TA	c.(2161-2163)ttafs	p.L721fs	WDR78_uc009waw.3_Frame_Shift_Ins_p.L434fs|WDR78_uc009wax.3_Non-coding_Transcript	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	721										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CAGAACAGCTTAAAAATACATC	0.327													A	67292681	-	A	67292680	7	5	66	1	0	1	1	0	0	0	0	0	17325	372	13	0	396	0	WDR78	1	67292680	Frame_Shift_Ins	INS	-	TCGA-BR-8284-01A-11D-2340-08	22000072	67292680	181957941	14	47944											
TNNI3K	51086	broad.mit.edu	37	chr1	74957799	74957799	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgatgtctcctgcatcaAgtaacagcagtgggtctctc	10	11	3	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:74957799A>C	uc001dgf.1	+	23	2251	c.2200A>C	c.(2200-2202)AGT>CGT	p.S734R	TNNI3K_uc001dge.1_Missense_Mutation_p.S835R	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	734	Poly-Ser.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						TCCTGCATCAAGTAACAGCAG	0.453													C	74957799	A	C	74957799	3	2	66	1	0	0	0	0	1	0	0	0	16326	72	3	5	2645	5	TNNI3K	1	74957799	Missense_Mutation	SNP	A	TCGA-BR-8284-01A-11D-2340-08	7665119	74957799	174292822	15	47945											
LRRC8C	84230	broad.mit.edu	37	chr1	90178606	90178606	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccaaaatagaacatttcatCtccattctggggaagtgttt	7	8	3	1	rs34247046	byFrequency	TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:90178606C>A	uc001dnl.3	+	3	719	c.477C>A	c.(475-477)ATC>ATA	p.I159I		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member	159						endoplasmic reticulum membrane|integral to membrane				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AACATTTCATCTCCATTCTGG	0.448													A	90178606	C	A	90178606	2	1	66	1	0	0	0	0	0	0	0	1	9023	903	32	5		5	LRRC8C	1	90178606	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	15220807	90178606	159072015	16	47946											
LRRC8D	55144	broad.mit.edu	37	chr1	90400677	90400677	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtttccagcatttaaaaCgactgacttgtttaaaatta	5	7	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:90400677C>T	uc001dnm.2	+	3	2475	c.2050C>T	c.(2050-2052)CGA>TGA	p.R684*	LRRC8D_uc001dnn.2_Nonsense_Mutation_p.R684*	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	684	LRR 8.					integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GCATTTAAAACGACTGACTTG	0.343													T	90400677	C	T	90400677	4	4	66	1	0	0	0	0	0	1	0	0	9024	528	19	1	2052	1	LRRC8D	1	90400677	Nonsense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	222071	90400677	158849944	17	47947											
TGFBR3	7049	broad.mit.edu	37	chr1	92177810	92177810	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccacaaaccttaggcaacTtctgggggtgcttctccatc	9	14	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:92177810T>C	uc001doh.2	-	13	2622	c.2156A>G	c.(2155-2157)AAG>AGG	p.K719R	TGFBR3_uc009wde.2_Missense_Mutation_p.K414R|TGFBR3_uc010osy.1_Missense_Mutation_p.K677R|TGFBR3_uc001doi.2_Missense_Mutation_p.K718R|TGFBR3_uc001doj.2_Missense_Mutation_p.K718R	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	719	ZP.|Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CTTAGGCAACTTCTGGGGGTG	0.468													C	92177810	T	C	92177810	3	2	66	1	0	0	0	0	1	0	0	0	15820	1609	56	3	419	3	TGFBR3	1	92177810	Missense_Mutation	SNP	T	TCGA-BR-8284-01A-11D-2340-08	1777133	92177810	157072811	18	47948											
RPAP2	79871	broad.mit.edu	37	chr1	92846337	92846337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggtatggtgtttacacGgtttctagacaccctccttg	11	9	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:92846337G>A	uc001dot.2	+	12	1854	c.1745G>A	c.(1744-1746)CGG>CAG	p.R582Q	RPAP2_uc009wdh.2_RNA	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	582						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		GTGTTTACACGGTTTCTAGAC	0.363													A	92846337	G	A	92846337	3	1	66	1	0	0	0	0	1	0	0	0	13542	1116	39	1	1791	1	RPAP2	1	92846337	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	668527	92846337	156404284	19	47949											
HIST2H3D	653604	broad.mit.edu	37	chr1	149785231	149785231	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgggcagtctgcttagtacgGgccatgctgtctcattgata	12	10	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:149785231G>C	uc010pbl.1	-	1	6	c.6C>G	c.(4-6)GCC>GCG	p.A2A	HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank	NM_001123375	NP_001116847	Q71DI3	H32_HUMAN	histone cluster 2, H3d	2					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding				0						GCTTAGTACGGGCCATGCTGT	0.567													C	149785231	G	C	149785231	2	2	66	1	0	0	0	0	0	0	0	1	7181	1219	43	5		5	HIST2H3D	1	149785231	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	56938894	149785231	99465390	20	47950											
POGZ	23126	broad.mit.edu	37	chr1	151378718	151378718	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggctccctctgtagccagCggtggaagggctaaagcctg	14	12	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:151378718C>T	uc001eyd.1	-	19	3099	c.2793G>A	c.(2791-2793)CCG>CCA	p.P931P	POGZ_uc001eye.1_Silent_p.P878P|POGZ_uc010pdb.1_Silent_p.P922P|POGZ_uc001eyf.1_Silent_p.P887P|POGZ_uc010pdc.1_Silent_p.P869P|POGZ_uc009wmv.1_Silent_p.P836P|POGZ_uc010pdd.1_Silent_p.P422P	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	931	Pro-rich.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGTAGCCAGCGGTGGAAGGG	0.572													T	151378718	C	T	151378718	2	4	66	1	0	0	0	0	0	0	0	1	12186	755	27	1		1	POGZ	1	151378718	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	1593487	151378718	97871903	21	47951											
INTS3	65123	broad.mit.edu	37	chr1	153745683	153745683	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccaggaagaggaagacacGaaaccgaagcctaccaagcg	11	11	0	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:153745683G>A	uc009wom.2	+	31	3287	c.3066G>A	c.(3064-3066)ACG>ACA	p.T1022T	INTS3_uc001fct.2_Silent_p.T1022T|INTS3_uc001fcu.2_Silent_p.T714T|INTS3_uc001fcv.2_Silent_p.T816T|INTS3_uc010peb.1_Silent_p.T882T|INTS3_uc001fcw.2_Silent_p.T535T|INTS3_uc010pec.1_Silent_p.T535T|INTS3_uc001fcy.2_Silent_p.T385T|INTS3_uc001fcx.2_Silent_p.T319T	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	1023					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGAAGACACGAAACCGAAGC	0.602													A	153745683	G	A	153745683	2	1	66	1	0	0	0	0	0	0	0	1	7779	1045	37	1		1	INTS3	1	153745683	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	2366965	153745683	95504938	22	47952											
PKLR	5313	broad.mit.edu	37	chr1	155264957	155264957	+	Frame_Shift_Del	DEL	C	C	-													cgtcgtcaatgtagatgcggCcccccaccggcacgacccgg							TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:155264956_155264956GC>G	uc001fkb.4	-	4	684	c.645_645GC>C	c.(643-645)ggcfs	p.G215fs	PKLR_uc001fka.4_Frame_Shift_Del_p.G184fs	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	215					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	TGTAGATGCGGCCCCCCACCG	0.657													-	155264957	C	-	155264957	7	5	66	1	0	1	0	1	0	0	0	0	11976	739	26	0	1108	0	PKLR	1	155264957	Frame_Shift_Del	DEL	C	TCGA-BR-8284-01A-11D-2340-08	1519274	155264957	93985664	23	47953											
SEMA4A	64218	broad.mit.edu	37	chr1	156132886	156132886	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacccccggccaggcagtGtgagtactaccccccacact	8	19	0	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:156132886G>A	uc001fnl.2	+	10	1238	c.1134_splice	c.e10+1	p.S378_splice	SEMA4A_uc009wrq.2_Splice_Site_p.S378_splice|SEMA4A_uc001fnm.2_Splice_Site_p.S378_splice|SEMA4A_uc001fnn.2_Splice_Site_p.S246_splice|SEMA4A_uc001fno.2_Splice_Site_p.S378_splice	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor						axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					GCCAGGCAGTGTGAGTACTAC	0.453													A	156132886	G	A	156132886	5	1	66	1	0	0	0	0	0	0	1	0	14031	1391	48	4	1169	4	SEMA4A	1	156132886	Splice_Site	SNP	G	TCGA-BR-8284-01A-11D-2340-08	867929	156132886	93117735	24	47954											
TMEM79	84283	broad.mit.edu	37	chr1	156255196	156255196	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggatctcccacagccatagAgggggctgaggatggtctag	15	9	2	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:156255196A>G	uc010phi.1	+	2	375	c.179A>G	c.(178-180)GAG>GGG	p.E60G	SMG5_uc001foc.3_5'Flank|TMEM79_uc001fod.2_Intron|TMEM79_uc009wrw.2_Missense_Mutation_p.E60G	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	60						integral to membrane				central_nervous_system(1)	1	Hepatocellular(266;0.158)					ACAGCCATAGAGGGGGCTGAG	0.652													G	156255196	A	G	156255196	3	3	66	1	0	0	0	0	1	0	0	0	16200	304	11	3	181	3	TMEM79	1	156255196	Missense_Mutation	SNP	A	TCGA-BR-8284-01A-11D-2340-08	122310	156255196	92995425	25	47955											
FCRL2	79368	broad.mit.edu	37	chr1	157740399	157740399	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agttctgttctccctggcatTtcagaacgatgctgtctcct	8	12	4	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:157740399T>G	uc001fre.2	-	3	169	c.110A>C	c.(109-111)AAA>ACA	p.K37T	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.K37T|FCRL2_uc009wsp.2_Missense_Mutation_p.K37T|FCRL2_uc010pia.1_Missense_Mutation_p.K37T	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	37	Ig-like C2-type 1.|Extracellular (Potential).				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCCCTGGCATTTCAGAACGAT	0.438													G	157740399	T	G	157740399	3	3	66	1	0	0	0	0	1	0	0	0	5795	1841	64	5	1456	5	FCRL2	1	157740399	Missense_Mutation	SNP	T	TCGA-BR-8284-01A-11D-2340-08	1485203	157740399	91510222	26	47956											
FCRL6	343413	broad.mit.edu	37	chr1	159779472	159779472	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaagaagctgtctctgaaGggtgtgttttgttctccaac	10	10	2	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:159779472G>T	uc001fud.3	+	5	927	c.885G>T	c.(883-885)AAG>AAT	p.K295N	FCRL6_uc001fuc.2_Missense_Mutation_p.K302N|FCRL6_uc009wsz.1_Missense_Mutation_p.K200N|FCRL6_uc009wta.2_Missense_Mutation_p.K295N	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6 precursor	295	Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.0597)					TGTCTCTGAAGGGTGTGTTTT	0.552													T	159779472	G	T	159779472	3	4	66	1	0	0	0	0	1	0	0	0	5799	1014	35	5	903	5	FCRL6	1	159779472	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	2039073	159779472	89471149	27	47957											
SELE	6401	broad.mit.edu	37	chr1	169696647	169696647	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgatctttcccggaactgcCaggcttgaacattttaccac	7	12	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:169696647C>A	uc001ggm.3	-	10	1645	c.1488G>T	c.(1486-1488)CTG>CTT	p.L496L	C1orf112_uc001ggj.2_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	selectin E precursor	496	Extracellular (Potential).|Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			ovary(3)|skin(2)	5	all_hematologic(923;0.208)					CCGGAACTGCCAGGCTTGAAC	0.468													A	169696647	C	A	169696647	2	1	66	1	0	0	0	0	0	0	0	1	14013	581	21	5		5	SELE	1	169696647	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	9917175	169696647	79553974	28	47958											
CACNA1E	777	broad.mit.edu	37	chr1	181727101	181727101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggcgtgcatcgacttcGccatcagcgccaaacctctc	10	15	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:181727101G>A	uc001gow.2	+	31	4513	c.4348G>A	c.(4348-4350)GCC>ACC	p.A1450T	CACNA1E_uc009wxs.2_Missense_Mutation_p.A1338T|CACNA1E_uc001gox.1_Missense_Mutation_p.A676T|CACNA1E_uc009wxt.2_Missense_Mutation_p.A676T	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1450	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						CATCGACTTCGCCATCAGCGC	0.527													A	181727101	G	A	181727101	3	1	66	1	0	0	0	0	1	0	0	0	2542	1087	38	1	4470	1	CACNA1E	1	181727101	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	12030454	181727101	67523520	29	47959											
PRELP	5549	broad.mit.edu	37	chr1	203455927	203455927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacacctgcgctacctgcGgctggatggaaactacttga	11	13	0	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:203455927G>A	uc001gzs.2	+	3	1267	c.1067G>A	c.(1066-1068)CGG>CAG	p.R356Q	PRELP_uc001gzt.2_Missense_Mutation_p.R356Q	NM_002725	NP_002716	P51888	PRELP_HUMAN	proline arginine-rich end leucine-rich repeat	356	LRR 11.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(1)|central_nervous_system(1)|pancreas(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGCTACCTGCGGCTGGATGGA	0.597													A	203455927	G	A	203455927	3	1	66	1	0	0	0	0	1	0	0	0	12473	1116	39	1	1073	1	PRELP	1	203455927	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	21728826	203455927	45794694	30	47960											
KIF26B	55083	broad.mit.edu	37	chr1	245704126	245704126	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacatcggccttccacttcTtccgctgccgaaccaccgct	6	18	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:245704126T>G	uc001ibf.1	+	5	1664	c.1224T>G	c.(1222-1224)TCT>TCG	p.S408S	KIF26B_uc010pyq.1_Silent_p.S408S|KIF26B_uc001ibg.1_Silent_p.S26S	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	408					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTTCCACTTCTTCCGCTGCCG	0.522													G	245704126	T	G	245704126	2	3	66	1	0	0	0	0	0	0	0	1	8295	1596	56	5		5	KIF26B	1	245704126	Silent	SNP	T	TCGA-BR-8284-01A-11D-2340-08	42248199	245704126	3546495	31	47961											
OR2W3	343171	broad.mit.edu	37	chr1	248059005	248059005	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcgcgtacctcctgaccctCgtaggcaacaccaccatcat	6	17	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:248059005C>T	uc001idp.1	+	3	386	c.117C>T	c.(115-117)CTC>CTT	p.L39L	OR2W3_uc010pzb.1_Silent_p.L39L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	39	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCCTGACCCTCGTAGGCAACA	0.577													T	248059005	C	T	248059005	2	4	66	1	0	0	0	0	0	0	0	1	11033	871	31	1		1	OR2W3	1	248059005	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	2354879	248059005	1191616	32	47962											
OR2L13	284521	broad.mit.edu	37	chr1	248263219	248263219	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatttcttctgcgatgtccCagccatgttgcttcttgcct	7	14	3	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:248263219C>A	uc001ids.2	+	3	879	c.542C>A	c.(541-543)CCA>CAA	p.P181Q		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	181	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGCGATGTCCCAGCCATGTTG	0.458													A	248263219	C	A	248263219	3	1	66	1	0	0	0	0	1	0	0	0	11006	594	21	5	544	5	OR2L13	1	248263219	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	204214	248263219	987402	33	47963											
OR2T3	343173	broad.mit.edu	37	chr1	248637256	248637256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacgtctccctctataagaCgctcatgtacctgtgctgca	8	13	3	2	rs79885009	byFrequency	TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:248637256C>T	uc001iel.1	+	1	605	c.605C>T	c.(604-606)ACG>ATG	p.T202M		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	202	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCTATAAGACGCTCATGTAC	0.507													T	248637256	C	T	248637256	3	4	66	1	0	0	0	0	1	0	0	0	11023	536	19	1	607	1	OR2T3	1	248637256	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	374037	248637256	613365	34	47964											
OSR1	130497	broad.mit.edu	37	chr2	19552099	19552099	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtagcgtcttgtggacagcGagagtcctggactggcagaa	15	8	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:19552099G>A	uc002rdc.2	-	3	1041	c.738C>T	c.(736-738)CTC>CTT	p.L246L		NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN	odd-skipped related 1	246	C2H2-type 3.				chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				TGTGGACAGCGAGAGTCCTGG	0.498													A	19552099	G	A	19552099	2	1	66	1	0	0	0	0	0	0	0	1	11293	1045	37	1		1	OSR1	2	19552099	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08		19552099	223647274	35	47965											
FOSL2	2355	broad.mit.edu	37	chr2	28634855	28634860	+	In_Frame_Del	DEL	AGAAGG	AGAAGG	-													gaaggagattgctgagctgcAgaaggagaaggagaagctgg							TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:28634854_28634859CAGAAGG>C	uc002rma.3	+	3	1329_1334	c.520_525CAGAAGG>C	c.(520-525)cagaag>C	p.QK174del	FOSL2_uc021vfg.1_In_Frame_Del_p.QK166del|FOSL2_uc010ymi.2_In_Frame_Del_p.QK135del	NM_005253	NP_005244	P15408	FOSL2_HUMAN	Homo sapiens FOS-like antigen 2 (FOSL2), mRNA.	174	Leucine-zipper.				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TGCTGAGCTGCAGAAGGAGAAGGAGA	0.617													-	28634860	AGAAGG	-	28634855	7	5	66	1	0	1	0	1	0	0	0	0	5988	188	7	0	535	0	FOSL2	2	28634855	In_Frame_Del	DEL	AGAAGG	TCGA-BR-8284-01A-11D-2340-08	9082756	28634855	214564518	36	47966											
SOCS5	9655	broad.mit.edu	37	chr2	46985797	46985797	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtttgtctgtcaaagagaAaaacatcagcataggagact	9	6	3	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:46985797A>G	uc002rvf.2	+	2	292	c.128A>G	c.(127-129)AAA>AGA	p.K43R	SOCS5_uc010yoe.1_Missense_Mutation_p.K12R|SOCS5_uc002rvg.2_Missense_Mutation_p.K43R	NM_014011	NP_054730	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	43					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					ovary(1)|lung(1)|central_nervous_system(1)	3		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GTCAAAGAGAAAAACATCAGC	0.418													G	46985797	A	G	46985797	3	3	66	1	0	0	0	0	1	0	0	0	14917	14	1	3	130	3	SOCS5	2	46985797	Missense_Mutation	SNP	A	TCGA-BR-8284-01A-11D-2340-08	18350942	46985797	196213576	37	47967											
MSH2	4436	broad.mit.edu	37	chr2	47630387	47630387	+	Frame_Shift_Del	DEL	C	C	-													agcgcggccgaggtcggcttCgtgcgcttctttcagggcat							TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:47630387delC	uc002rvy.1	+	1	125	c.57delC	c.(55-57)TTCfs	p.F19fs	MSH2_uc010yoh.1_Intron|MSH2_uc002rvz.2_Frame_Shift_Del_p.F19fs|MSH2_uc010fbf.1_Frame_Shift_Del_p.F19fs	NM_000251	NP_000242	P43246	MSH2_HUMAN	mutS homolog 2	19					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding			large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGGTCGGCTTCGTGCGCTTCT	0.647			D|Mis|N|F|S		colorectal|endometrial|ovarian	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				-	47630387	C	-	47630387	7	5	66	1	0	1	0	1	0	0	0	0	9870	883	31	0	59	0	MSH2	2	47630387	Frame_Shift_Del	DEL	C	TCGA-BR-8284-01A-11D-2340-08	644590	47630387	195568986	38	47968											
VRK2	7444	broad.mit.edu	37	chr2	58366924	58366924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaccactggacttttccaCaaaaggacagagtataaatg	9	8	0	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:58366924C>T	uc002rzo.2	+	14	1725	c.980C>T	c.(979-981)ACA>ATA	p.T327I	VRK2_uc010fcb.2_Missense_Mutation_p.T327I|VRK2_uc002rzs.2_Missense_Mutation_p.T327I|VRK2_uc002rzr.2_Missense_Mutation_p.T327I|VRK2_uc010fcc.2_Missense_Mutation_p.T209I|VRK2_uc002rzv.2_Missense_Mutation_p.T327I|VRK2_uc010fcd.2_Missense_Mutation_p.T304I|VRK2_uc002rzp.2_Missense_Mutation_p.T327I|VRK2_uc010ypg.1_Missense_Mutation_p.T327I|VRK2_uc002rzq.2_Missense_Mutation_p.T327I|VRK2_uc002rzu.2_Missense_Mutation_p.T327I|VRK2_uc002rzt.2_Missense_Mutation_p.T209I	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	vaccinia related kinase 2 isoform 2	327						integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1						GACTTTTCCACAAAAGGACAG	0.363													T	58366924	C	T	58366924	3	4	66	1	0	0	0	0	1	0	0	0	17217	478	17	4	1018	4	VRK2	2	58366924	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	10736537	58366924	184832449	39	47969											
DCTN1	1639	broad.mit.edu	37	chr2	74598237	74598237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgctttgtcttctgcccGtttcagtctcagggtctcta	8	12	5	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:74598237G>A	uc002skx.2	-	9	1023	c.712C>T	c.(712-714)CGG>TGG	p.R238W	DCTN1_uc002skv.2_Missense_Mutation_p.R104W|DCTN1_uc002sku.2_Missense_Mutation_p.R104W|DCTN1_uc002skw.1_Missense_Mutation_p.R214W|DCTN1_uc010ffd.2_Missense_Mutation_p.R218W|DCTN1_uc002sky.2_Missense_Mutation_p.R201W	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	238	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						TCTTCTGCCCGTTTCAGTCTC	0.552													A	74598237	G	A	74598237	3	1	66	1	0	0	0	0	1	0	0	0	4306	1144	40	1	3220	1	DCTN1	2	74598237	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	16231313	74598237	168601136	40	47970											
LRRTM1	347730	broad.mit.edu	37	chr2	80530368	80530368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcttgagctgattgtatcCgatgtcgagaaacttgaggc	11	8	1	4			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:80530368C>T	uc002sok.1	-	2	847	c.577G>A	c.(577-579)GGA>AGA	p.G193R	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	193	LRR 5.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						TGATTGTATCCGATGTCGAGA	0.572										HNSCC(69;0.2)			T	80530368	C	T	80530368	3	4	66	1	0	0	0	0	1	0	0	0	9039	661	23	1	995	1	LRRTM1	2	80530368	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	5932131	80530368	162669005	41	47971											
GPR45	11250	broad.mit.edu	37	chr2	105859168	105859168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctggctgccccactccGtctacagcctcctgtctgtg	9	17	3	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:105859168G>A	uc002tco.1	+	1	969	c.853G>A	c.(853-855)GTC>ATC	p.V285I		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	285	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.V285I(1)		ovary(1)|breast(1)|central_nervous_system(1)	3						GCCCCACTCCGTCTACAGCCT	0.582													A	105859168	G	A	105859168	3	1	66	1	0	0	0	0	1	0	0	0	6696	1145	40	1	855	1	GPR45	2	105859168	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	25328800	105859168	137340205	42	47972											
C2orf40	84417	broad.mit.edu	37	chr2	106690499	106690499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatgggctttgacgaagcGgtaggtgttgcctccggctg	15	9	0	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:106690499G>A	uc010fjf.2	+	3	393	c.285G>A	c.(283-285)GCG>GCA	p.A95A		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	esophageal cancer related gene 4 protein	95						extracellular region|transport vesicle					0						TTGACGAAGCGGTAGGTGTTG	0.612													A	106690499	G	A	106690499	2	1	66	1	0	0	0	0	0	0	0	1	2165	1130	39	1		1	C2orf40	2	106690499	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	831331	106690499	136508874	43	47973											
FBLN7	129804	broad.mit.edu	37	chr2	112944983	112944983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacctggaggggcctcagaCgctggaggtggacgtcgaca	17	10	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:112944983C>T	uc002tho.1	+	8	1491	c.1220C>T	c.(1219-1221)ACG>ATG	p.T407M	FBLN7_uc002thn.2_Missense_Mutation_p.R323C|FBLN7_uc010fki.1_Missense_Mutation_p.T361M|FBLN7_uc010fkj.1_Missense_Mutation_p.T273M	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	fibulin 7 isoform 1	407					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	p.T407M(1)		ovary(1)|central_nervous_system(1)	2						GGGCCTCAGACGCTGGAGGTG	0.592													T	112944983	C	T	112944983	3	4	66	1	0	0	0	0	1	0	0	0	5701	536	19	1	1250	1	FBLN7	2	112944983	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	6254484	112944983	130254390	44	47974											
THSD7B	80731	broad.mit.edu	37	chr2	137990641	137990641	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagccacgtgtggtgtAggcattcagactcggagagt	16	7	1	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:137990641A>G	uc002tva.1	+	8	1995	c.1995A>G	c.(1993-1995)GTA>GTG	p.V665V	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.V555V	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGTGTGGTGTAGGCATTCAGA	0.468													G	137990641	A	G	137990641	2	3	66	1	0	0	0	0	0	0	0	1	15877	407	15	3		3	THSD7B	2	137990641	Silent	SNP	A	TCGA-BR-8284-01A-11D-2340-08	25045658	137990641	105208732	45	47975											
STAM2	10254	broad.mit.edu	37	chr2	152992113	152992113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcctttccaccaattggCatcactaaaaatacagtgca	4	12	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:152992113C>T	uc002tyc.3	-	8	1059	c.709G>A	c.(709-711)GCC>ACC	p.A237T	STAM2_uc010foa.1_Missense_Mutation_p.A237T|STAM2_uc002tyd.2_Missense_Mutation_p.A237T	NM_005843	NP_005834	O75886	STAM2_HUMAN	signal transducing adaptor molecule 2	237	SH3.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.22)		CACCAATTGGCATCACTAAAA	0.303													T	152992113	C	T	152992113	3	4	66	1	0	0	0	0	1	0	0	0	15248	710	25	2	896	2	STAM2	2	152992113	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	15001472	152992113	90207260	46	47976											
TTN	7273	broad.mit.edu	37	chr2	179408275	179408275	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcagcttcacgcttctcaAcgatgtaattgttgactgga	9	9	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:179408275A>G	uc010zfg.1	-	296	88945	c.88721T>C	c.(88720-88722)GTT>GCT	p.V29574A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V23269A|TTN_uc010zfi.1_Missense_Mutation_p.V23202A|TTN_uc010zfj.1_Missense_Mutation_p.V23077A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30501							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGCTTCTCAACGATGTAATT	0.408													G	179408275	A	G	179408275	3	3	66	1	0	0	0	0	1	0	0	0	16732	43	2	3	11618	3	TTN	2	179408275	Missense_Mutation	SNP	A	TCGA-BR-8284-01A-11D-2340-08	26416162	179408275	63791098	47	47977											
TTN	7273	broad.mit.edu	37	chr2	179417845	179417845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtgtcaagcactttaaCactcacagttgaagacttag	9	8	2	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:179417845C>T	uc010zfg.1	-	284	82302	c.82078G>A	c.(82078-82080)GTT>ATT	p.V27360I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V21055I|TTN_uc010zfi.1_Missense_Mutation_p.V20988I|TTN_uc010zfj.1_Missense_Mutation_p.V20863I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28287							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCACTTTAACACTCACAGTT	0.428													T	179417845	C	T	179417845	3	4	66	1	0	0	0	0	1	0	0	0	16732	478	17	4	18309	4	TTN	2	179417845	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	9570	179417845	63781528	48	47978											
C2orf69	205327	broad.mit.edu	37	chr2	200790353	200790353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaatgtattggctggatgGtggtcattctggaggaagca	14	5	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:200790353G>A	uc010zhb.1	+	2	1085	c.902G>A	c.(901-903)GGT>GAT	p.G301D		NM_153689	NP_710156	Q8N8R5	CB069_HUMAN	hypothetical protein LOC205327 precursor	301						extracellular region				central_nervous_system(1)	1						TGGCTGGATGGTGGTCATTCT	0.363													A	200790353	G	A	200790353	3	1	66	1	0	0	0	0	1	0	0	0	2188	1261	44	4	908	4	C2orf69	2	200790353	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	21372508	200790353	42409020	49	47979											
CPO	130749	broad.mit.edu	37	chr2	207820188	207820188	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctcccttgctgtttcagaTctatgagtggatgagagaga	11	8	2	4			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:207820188T>A	uc002vby.2	+	3	213	c.167T>A	c.(166-168)ATC>AAC	p.I56N		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	carboxypeptidase O precursor	56					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CTGTTTCAGATCTATGAGTGG	0.438													A	207820188	T	A	207820188	3	1	66	1	0	0	0	0	1	0	0	0	3820	1449	50	5	177	5	CPO	2	207820188	Missense_Mutation	SNP	T	TCGA-BR-8284-01A-11D-2340-08	7029835	207820188	35379185	50	47980											
IRS1	3667	broad.mit.edu	37	chr2	227662669	227662669	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgcgagggcggaactcAtcactcatggcccgcatggc	13	13	3	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:227662669A>G	uc002voh.3	-	1	838	c.786T>C	c.(784-786)GAT>GAC	p.D262D		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	262	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGCGGAACTCATCACTCATGG	0.647											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	227662669	A	G	227662669	2	3	66	1	0	0	0	0	0	0	0	1	7840	214	8	3		3	IRS1	2	227662669	Silent	SNP	A	TCGA-BR-8284-01A-11D-2340-08	19842481	227662669	15536704	51	47981											
CHRND	1144	broad.mit.edu	37	chr2	233396134	233396134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctgctcatctccaagcGtctgcctgccacatccatgg	8	17	3	0	rs139722128		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:233396134G>A	uc002vsw.2	+	8	897	c.893G>A	c.(892-894)CGT>CAT	p.R298H	CHRND_uc010zmg.1_Missense_Mutation_p.R283H|CHRND_uc010fyc.2_Missense_Mutation_p.R171H|CHRND_uc010zmh.1_Missense_Mutation_p.R104H	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	298	Helical; (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)|skin(1)	3		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		ATCTCCAAGCGTCTGCCTGCC	0.612													A	233396134	G	A	233396134	3	1	66	1	0	0	0	0	1	0	0	0	3394	1145	40	1	923	1	CHRND	2	233396134	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	5733465	233396134	9803239	52	47982											
CNTN4	152330	broad.mit.edu	37	chr3	2967352	2967352	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaacactcttgaaaagagTaactcttgtcaaagtgggag	10	6	3	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:2967352T>C	uc003bpc.2	+	12	1468	c.1247T>C	c.(1246-1248)GTA>GCA	p.V416A	CNTN4_uc003bpb.1_Missense_Mutation_p.V88A|CNTN4_uc003bpd.1_Missense_Mutation_p.V416A|CNTN4_uc003bpe.2_Missense_Mutation_p.V88A|CNTN4_uc003bpf.2_Missense_Mutation_p.V88A	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	416	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTGAAAAGAGTAACTCTTGTC	0.368													C	2967352	T	C	2967352	3	2	66	1	0	0	0	0	1	0	0	0	3643	1638	57	3	1285	3	CNTN4	3	2967352	Missense_Mutation	SNP	T	TCGA-BR-8284-01A-11D-2340-08		2967352	195055078	53	47983											
RAB5A	5868	broad.mit.edu	37	chr3	20017628	20017628	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttatcgggaaacaaggcCgacctagcaaataaaagagc	10	9	0	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:20017628C>T	uc003cbn.2	+	4	940	c.405C>T	c.(403-405)GCC>GCT	p.A135A	RAB5A_uc010hey.2_RNA|RAB5A_uc011awg.1_Silent_p.A121A	NM_004162	NP_004153	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	135	GTP.				blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity				0						GAAACAAGGCCGACCTAGCAA	0.363													T	20017628	C	T	20017628	2	4	66	1	0	0	0	0	0	0	0	1	12948	639	23	1		1	RAB5A	3	20017628	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	17050276	20017628	178004802	54	47984											
SUSD5	26032	broad.mit.edu	37	chr3	33195442	33195442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcatctgcctctgtccGggaatcctccatgagctctc	8	16	4	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:33195442G>A	uc003cfo.1	-	5	1100	c.682C>T	c.(682-684)CGG>TGG	p.R228W		NM_015551	NP_056366	O60279	SUSD5_HUMAN	sushi domain containing 5 precursor	228	Extracellular (Potential).				cell adhesion	integral to membrane	hyaluronic acid binding			ovary(1)|central_nervous_system(1)	2						GCCTCTGTCCGGGAATCCTCC	0.512													A	33195442	G	A	33195442	3	1	66	1	0	0	0	0	1	0	0	0	15408	1115	39	1	1211	1	SUSD5	3	33195442	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	13177814	33195442	164826988	55	47985											
ZNF621	285268	broad.mit.edu	37	chr3	40574034	40574034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcatcagagattacacaCgggagagaaactctataaat	9	8	2	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:40574034C>T	uc003ckm.2	+	5	989	c.773C>T	c.(772-774)ACG>ATG	p.T258M	ZNF621_uc003ckn.2_Missense_Mutation_p.T258M|ZNF621_uc003cko.2_Missense_Mutation_p.T223M|ZNF621_uc011aze.1_Missense_Mutation_p.T250M	NM_001098414	NP_001091884	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		AGATTACACACGGGAGAGAAA	0.433													T	40574034	C	T	40574034	3	4	66	1	0	0	0	0	1	0	0	0	18042	536	19	1	787	1	ZNF621	3	40574034	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	7378592	40574034	157448396	56	47986											
LOC646498	646498	broad.mit.edu	37	chr3	49227333	49227333	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgacatctcagagaagaaAggtaaagcctgtcccaggga	11	9	2	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:49227333A>C	uc011bcj.1	-	1	95	c.89T>G	c.(88-90)CTT>CGT	p.L30R		NM_001080528	NP_001073997			hypothetical LOC646498												0				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.00221)|KIRC - Kidney renal clear cell carcinoma(197;0.00247)		CAGAGAAGAAAGGTAAAGCCT	0.507													C	49227333	A	C	49227333	3	2	66	1	0	0	0	0	1	0	0	0	8884	87	3	5		5	LOC646498	3	49227333	Missense_Mutation	SNP	A	TCGA-BR-8284-01A-11D-2340-08	8653299	49227333	148795097	57	47987											
STAB1	23166	broad.mit.edu	37	chr3	52556204	52556204	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcacagatggccaccgCgggggctgcagcgagcacgc	15	16	0	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:52556204C>T	uc003dej.2	+	59	6497	c.6423C>T	c.(6421-6423)CGC>CGT	p.R2141R	STAB1_uc003dek.1_Silent_p.R156R|STAB1_uc003del.2_Silent_p.R28R	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	2141	EGF-like 16.|Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ATGGCCACCGCGGGGGCTGCA	0.667													T	52556204	C	T	52556204	2	4	66	1	0	0	0	0	0	0	0	1	15236	755	27	1		1	STAB1	3	52556204	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	3328871	52556204	145466226	58	47988											
PBRM1	55193	broad.mit.edu	37	chr3	52610695	52610695	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaatatgcagctccatctcGaacccatactttttcaattc	3	12	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:52610695G>A	uc003des.2	-	22	3565	c.3553C>T	c.(3553-3555)CGA>TGA	p.R1185*	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Nonsense_Mutation_p.R1185*|PBRM1_uc003der.2_Nonsense_Mutation_p.R1153*|PBRM1_uc003det.2_Nonsense_Mutation_p.R1200*|PBRM1_uc003deu.2_Nonsense_Mutation_p.R1200*|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Nonsense_Mutation_p.R1185*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.R1160*|PBRM1_uc003dey.2_Nonsense_Mutation_p.R1160*|PBRM1_uc003dez.1_Nonsense_Mutation_p.R1184*	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	1185	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.R1185*(1)		kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GCTCCATCTCGAACCCATACT	0.338			Mis|N|F|S|D|O		clear cell renal carcinoma|breast								A	52610695	G	A	52610695	4	1	66	1	0	0	0	0	0	1	0	0	11491	1066	37	1	1383	1	PBRM1	3	52610695	Nonsense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	54491	52610695	145411735	59	47989											
ABHD6	57406	broad.mit.edu	37	chr3	58260420	58260420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacaatcaatttgtacaaCggctcaaagaactgcagggc	9	10	2	2	rs34260150		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:58260420C>T	uc003djs.3	+	6	969	c.559C>T	c.(559-561)CGG>TGG	p.R187W	ABHD6_uc003djr.2_Missense_Mutation_p.R187W|ABHD6_uc003djt.3_Missense_Mutation_p.R187W	NM_020676	NP_065727	Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	187	Cytoplasmic (Potential).					integral to membrane	acylglycerol lipase activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		ATTTGTACAACGGCTCAAAGA	0.468													T	58260420	C	T	58260420	3	4	66	1	0	0	0	0	1	0	0	0	86	527	19	1	577	1	ABHD6	3	58260420	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	5649725	58260420	139762010	60	47990											
PROS1	5627	broad.mit.edu	37	chr3	93619668	93619668	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcacaagactttgatttgAgattatatctgtagccttcg	7	8	2	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:93619668A>G	uc003drb.3	-	7	1048	c.707T>C	c.(706-708)CTC>CCC	p.L236P	PROS1_uc010hoo.2_Missense_Mutation_p.L105P|PROS1_uc003dqz.3_Missense_Mutation_p.L105P	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	236	EGF-like 3; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CTTTGATTTGAGATTATATCT	0.433													G	93619668	A	G	93619668	3	3	66	1	0	0	0	0	1	0	0	0	12558	304	11	3	1359	3	PROS1	3	93619668	Missense_Mutation	SNP	A	TCGA-BR-8284-01A-11D-2340-08	35359248	93619668	104402762	61	47991											
TOMM70A	9868	broad.mit.edu	37	chr3	100093959	100093959	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaggctgctgctgttgcatgTacatgctgcctcttttgatg	11	9	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:100093959T>A	uc003dtw.2	-	7	1562	c.1130A>T	c.(1129-1131)TAC>TTC	p.Y377F		NM_014820	NP_055635	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70	377	Cytoplasmic (Potential).|TPR 5.				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			ovary(1)	1						CTGTTGCATGTACATGCTGCC	0.428													A	100093959	T	A	100093959	3	1	66	1	0	0	0	0	1	0	0	0	16359	1638	57	5	720	5	TOMM70A	3	100093959	Missense_Mutation	SNP	T	TCGA-BR-8284-01A-11D-2340-08	6474291	100093959	97928471	62	47992											
ALCAM	214	broad.mit.edu	37	chr3	105264131	105264131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggtgatgccctacccgtGtcatgcacaatatctgctag	9	11	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:105264131G>A	uc003dvx.2	+	9	1596	c.1056G>A	c.(1054-1056)GTG>GTA	p.V352V	ALCAM_uc003dvw.1_Silent_p.V352V|ALCAM_uc003dvy.2_Silent_p.V352V|ALCAM_uc011bhh.1_3'UTR|ALCAM_uc010hpp.2_Silent_p.V74V|ALCAM_uc003dvz.2_5'UTR	NM_001627	NP_001618	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	352	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(2)|breast(1)	3						CCCTACCCGTGTCATGCACAA	0.403													A	105264131	G	A	105264131	2	1	66	1	0	0	0	0	0	0	0	1	487	1364	48	4		4	ALCAM	3	105264131	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	5170172	105264131	92758299	63	47993											
ZBTB20	26137	broad.mit.edu	37	chr3	114058128	114058128	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtggaggcgcatgtgcacGttgagggagctcttctgggt	18	8	2	1	rs144019743	byFrequency	TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:114058128G>A	uc003ebi.2	-	5	2130	c.1950C>T	c.(1948-1950)AAC>AAT	p.N650N	ZBTB20_uc003ebj.2_Silent_p.N577N|ZBTB20_uc010hqp.2_Silent_p.N577N|ZBTB20_uc003ebk.2_Silent_p.N577N|ZBTB20_uc003ebl.2_Silent_p.N577N|ZBTB20_uc003ebm.2_Silent_p.N577N|ZBTB20_uc003ebn.2_Silent_p.N577N	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	650	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCATGTGCACGTTGAGGGAGC	0.532													A	114058128	G	A	114058128	2	1	66	1	0	0	0	0	0	0	0	1	17526	1136	40	1		1	ZBTB20	3	114058128	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	8793997	114058128	83964302	64	47994											
POLQ	10721	broad.mit.edu	37	chr3	121207489	121207489	+	Frame_Shift_Del	DEL	A	A	-													cagaaacttcattcttttttAaaaaaagaccattttcctcc							TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:121207488_121207488TA>T	uc003eee.4	-	15	4419	c.4290_4290TA>A	c.(4288-4290)ttafs	p.L1430fs	POLQ_uc003eed.3_Frame_Shift_Del_p.L602fs	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1430					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CATTCTTTTTTAAAAAAAGAC	0.343								DNA polymerases (catalytic subunits)					-	121207489	A	-	121207489	7	5	66	1	0	1	0	1	0	0	0	0	12208	372	13	0	3543	0	POLQ	3	121207489	Frame_Shift_Del	DEL	A	TCGA-BR-8284-01A-11D-2340-08	7149361	121207489	76814941	65	47995											
SEMA5B	54437	broad.mit.edu	37	chr3	122632748	122632748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagatgcggcccccgtggcGgggagcagggttgctgcaac	18	12	0	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:122632748G>A	uc003efz.1	-	15	2393	c.2089C>T	c.(2089-2091)CGC>TGC	p.R697C	SEMA5B_uc011bju.1_Missense_Mutation_p.R639C|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R697C|SEMA5B_uc010hro.1_Missense_Mutation_p.R639C|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	697	Extracellular (Potential).|TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		CCCCCGTGGCGGGGAGCAGGG	0.672													A	122632748	G	A	122632748	3	1	66	1	0	0	0	0	1	0	0	0	14038	1116	39	1	1402	1	SEMA5B	3	122632748	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	1425259	122632748	75389682	66	47996											
KALRN	8997	broad.mit.edu	37	chr3	124103819	124103819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcatccaagacttcgtgcGcagggtggagcagcggaagc	16	11	0	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:124103819G>A	uc003ehg.2	+	11	2019	c.1892G>A	c.(1891-1893)CGC>CAC	p.R631H	KALRN_uc010hrv.1_Missense_Mutation_p.R631H|KALRN_uc003ehf.1_Missense_Mutation_p.R631H|KALRN_uc011bjy.1_Missense_Mutation_p.R631H|KALRN_uc003ehh.1_5'UTR	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	631	Spectrin 3.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GACTTCGTGCGCAGGGTGGAG	0.572													A	124103819	G	A	124103819	3	1	66	1	0	0	0	0	1	0	0	0	7975	1087	38	1	1934	1	KALRN	3	124103819	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	1471071	124103819	73918611	67	47997											
UROC1	131669	broad.mit.edu	37	chr3	126229550	126229550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtacatgtagatgtgtcCgtacagttgcagctcctggg	13	10	0	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:126229550C>T	uc003eiz.1	-	2	246	c.214G>A	c.(214-216)GGA>AGA	p.G72R	UROC1_uc010hsi.1_Missense_Mutation_p.G72R	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	72					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		TAGATGTGTCCGTACAGTTGC	0.612													T	126229550	C	T	126229550	3	4	66	1	0	0	0	0	1	0	0	0	17025	661	23	1	2076	1	UROC1	3	126229550	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	2125731	126229550	71792880	68	47998											
CPNE4	131034	broad.mit.edu	37	chr3	131442406	131442406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacctcctcaaagtaaaagtCcacagtaaacagttttgagt	6	10	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:131442406C>T	uc003eok.2	-	3	679	c.244G>A	c.(244-246)GAC>AAC	p.D82N	CPNE4_uc011blq.1_Missense_Mutation_p.D100N|CPNE4_uc003eol.2_Missense_Mutation_p.D100N|CPNE4_uc003eom.2_Missense_Mutation_p.D82N	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	82	C2 1.									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						AAGTAAAAGTCCACAGTAAAC	0.493													T	131442406	C	T	131442406	3	4	66	1	0	0	0	0	1	0	0	0	3814	855	30	4	1485	4	CPNE4	3	131442406	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	5212856	131442406	66580024	69	47999											
BCHE	590	broad.mit.edu	37	chr3	165547539	165547539	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtgaactccaaggcagggCatatgaaattataatcccca	9	9	0	2	rs149097236		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:165547539C>A	uc003fem.3	-	2	1443	c.1283G>T	c.(1282-1284)TGC>TTC	p.C428F	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	428					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CAAGGCAGGGCATATGAAATT	0.438													A	165547539	C	A	165547539	3	1	66	1	0	0	0	0	1	0	0	0	1358	710	25	5	537	5	BCHE	3	165547539	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	34105133	165547539	32474891	70	48000											
SERPINI2	5276	broad.mit.edu	37	chr3	167183292	167183292	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgttctcagaagagccttCatcattggaattttgacagt	8	7	3	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:167183292C>A	uc003fer.1	-	3	706	c.648G>T	c.(646-648)ATG>ATT	p.M216I	SERPINI2_uc003fes.1_Missense_Mutation_p.M226I|SERPINI2_uc003fet.1_Missense_Mutation_p.M216I	NM_006217	NP_006208	O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin),	216					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(2)|urinary_tract(1)	3						GAAGAGCCTTCATCATTGGAA	0.313													A	167183292	C	A	167183292	3	1	66	1	0	0	0	0	1	0	0	0	14119	826	29	5	593	5	SERPINI2	3	167183292	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	1635753	167183292	30839138	71	48001											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	8	11	3	4	rs121913273		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936082	G	A	178936082	3	1	66	1	0	0	0	0	1	0	0	0	11913	1291	45	4	1658	4	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	11752790	178936082	19086348	72	48002											
PIK3CA	5290	broad.mit.edu	37	chr3	178936094	178936094	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctctctgaaatcactgagCaggagaaagattttctatgg	9	8	4	4	rs121913286		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:178936094C>A	uc003fjk.2	+	10	1793	c.1636C>A	c.(1636-1638)CAG>AAG	p.Q546K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	546	PI3K helical.		Q -> K (in cancer).|Q -> P (in cancer).|Q -> E (in cancer).|Q -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Q546K(54)|p.Q546R(17)|p.Q546P(10)|p.Q546E(9)|p.Q546L(6)|p.Q546H(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATCACTGAGCAGGAGAAAGA	0.358		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936094	C	A	178936094	3	1	66	1	0	0	0	0	1	0	0	0	11913	711	25	5	1670	5	PIK3CA	3	178936094	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	12	178936094	19086336	73	48003											
VPS8	23355	broad.mit.edu	37	chr3	184573526	184573526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccagtgtgccactgctgGcctggcactttgtagcagta	11	12	0	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:184573526G>A	uc003fpb.1	+	13	1228	c.1057G>A	c.(1057-1059)GCC>ACC	p.A353T	VPS8_uc010hyd.1_Missense_Mutation_p.A353T	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	355							zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GCCACTGCTGGCCTGGCACTT	0.388													A	184573526	G	A	184573526	3	1	66	1	0	0	0	0	1	0	0	0	17215	1203	42	2	1109	2	VPS8	3	184573526	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	5637432	184573526	13448904	74	48004											
ATP13A5	344905	broad.mit.edu	37	chr3	193080199	193080199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcttcactggtcagaccCaatccaaatgtctgatggat	8	11	4	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:193080199C>T	uc011bsq.1	-	5	507	c.507G>A	c.(505-507)TTG>TTA	p.L169L		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	169					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGGTCAGACCCAATCCAAATG	0.418													T	193080199	C	T	193080199	2	4	66	1	0	0	0	0	0	0	0	1	1127	593	21	4		4	ATP13A5	3	193080199	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	8506673	193080199	4942231	75	48005											
UBXN7	26043	broad.mit.edu	37	chr3	196098766	196098766	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgattaactctccttctcaCctgccagaaaatgaaatgtt	5	11	2	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:196098766C>T	uc003fwm.3	-	6	690	c.615_splice	c.e6+1	p.Q205_splice	UBXN7_uc003fwn.3_Splice_Site_p.Q57_splice|UBXN7_uc010iae.2_Splice_Site_p.Q43_splice	NM_015562	NP_056377	O94888	UBXN7_HUMAN	UBX domain containing 7								protein binding			ovary(2)|pancreas(1)	3						CTCCTTCTCACCTGCCAGAAA	0.378													T	196098766	C	T	196098766	5	4	66	1	0	0	0	0	0	0	1	0	16915	521	18	4	877	4	UBXN7	3	196098766	Splice_Site	SNP	C	TCGA-BR-8284-01A-11D-2340-08	3018567	196098766	1923664	76	48006											
EVC2	132884	broad.mit.edu	37	chr4	5627539	5627539	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggagctttttcttttcctgCtttaagtcattgtccaactt	6	9	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:5627539C>A	uc003gij.2	-	13	2037	c.1983G>T	c.(1981-1983)AAG>AAT	p.K661N	EVC2_uc011bwb.1_Missense_Mutation_p.K101N|EVC2_uc003gik.2_Missense_Mutation_p.K581N	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	661	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5						TCTTTTCCTGCTTTAAGTCAT	0.368													A	5627539	C	A	5627539	3	1	66	1	0	0	0	0	1	0	0	0	5286	796	28	5	1983	5	EVC2	4	5627539	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08		5627539	185526737	77	48007											
EVC	2121	broad.mit.edu	37	chr4	5803748	5803748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagccgcctggtgcaggcGtattaccagcaaatcggaag	13	11	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:5803748G>A	uc003gil.1	+	16	2560	c.2376G>A	c.(2374-2376)GCG>GCA	p.A792A	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	792					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				TGGTGCAGGCGTATTACCAGC	0.607													A	5803748	G	A	5803748	2	1	66	1	0	0	0	0	0	0	0	1	5285	1132	40	1		1	EVC	4	5803748	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	176209	5803748	185350528	78	48008											
MAN2B2	23324	broad.mit.edu	37	chr4	6606906	6606906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagagggcacccaggagcCggctgccactgtggcgagca	15	14	0	1	rs142864633		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:6606906C>T	uc003gjf.1	+	11	1700	c.1664C>T	c.(1663-1665)CCG>CTG	p.P555L	MAN2B2_uc003gje.1_Missense_Mutation_p.P555L|MAN2B2_uc011bwf.1_Missense_Mutation_p.P504L	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	555					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						ACCCAGGAGCCGGCTGCCACT	0.607													T	6606906	C	T	6606906	3	4	66	1	0	0	0	0	1	0	0	0	9217	652	23	1	1706	1	MAN2B2	4	6606906	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	803158	6606906	184547370	79	48009											
BOD1L	259282	broad.mit.edu	37	chr4	13606646	13606646	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccgggcaggtttacttggTtcactttttgcatgaacatg	10	9	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:13606646T>C	uc003gmz.1	-	10	1995	c.1878A>G	c.(1876-1878)GAA>GAG	p.E626E	BOD1L_uc010idr.1_5'UTR	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	626	Lys-rich.						DNA binding			ovary(5)|breast(1)	6						GTTTACTTGGTTCACTTTTTG	0.343													C	13606646	T	C	13606646	2	2	66	1	0	0	0	0	0	0	0	1	1483	1722	60	3		3	BOD1L	4	13606646	Silent	SNP	T	TCGA-BR-8284-01A-11D-2340-08	6999740	13606646	177547630	80	48010											
PPARGC1A	10891	broad.mit.edu	37	chr4	23803856	23803856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagattctcacccatcatccCgcagatttactgtgcactcc	5	15	2	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:23803856C>T	uc003gqs.2	-	11	2252	c.2132G>A	c.(2131-2133)CGG>CAG	p.R711Q	PPARGC1A_uc003gqt.2_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	711	RRM.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				CCCATCATCCCGCAGATTTAC	0.403													T	23803856	C	T	23803856	3	4	66	1	0	0	0	0	1	0	0	0	12300	652	23	1	276	1	PPARGC1A	4	23803856	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	10197210	23803856	167350420	81	48011											
GABRA4	2557	broad.mit.edu	37	chr4	46995377	46995377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaccgccaggcacaggaagCgcaggagggcgaaactgacc	14	12	0	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:46995377C>T	uc003gxg.2	-	1	204	c.65G>A	c.(64-66)CGC>CAC	p.R22H		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	22					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCACAGGAAGCGCAGGAGGGC	0.592													T	46995377	C	T	46995377	3	4	66	1	0	0	0	0	1	0	0	0	6163	768	27	1	1635	1	GABRA4	4	46995377	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	23191521	46995377	144158899	82	48012											
ATP10D	57205	broad.mit.edu	37	chr4	47517498	47517498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttgggttgcagagctgCcaatttatatttcctgttcc	10	8	0	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:47517498C>T	uc003gxk.1	+	3	460	c.296C>T	c.(295-297)GCC>GTC	p.A99V	ATP10D_uc003gxj.3_Missense_Mutation_p.A99V	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	99	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						TGCAGAGCTGCCAATTTATAT	0.418													T	47517498	C	T	47517498	3	4	66	1	0	0	0	0	1	0	0	0	1118	739	26	2	302	2	ATP10D	4	47517498	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	522121	47517498	143636778	83	48013											
YTHDC1	91746	broad.mit.edu	37	chr4	69184574	69184574	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggtatcgtggatcctttAaataccctgttcaaacatca	6	11	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:69184574A>G	uc003hdx.2	-	13	2044	c.1691T>C	c.(1690-1692)TTA>TCA	p.L564S	YTHDC1_uc003hdy.2_Missense_Mutation_p.L546S	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	564	Arg-rich.									upper_aerodigestive_tract(1)|ovary(1)	2						TGGATCCTTTAAATACCCTGT	0.323													G	69184574	A	G	69184574	3	3	66	1	0	0	0	0	1	0	0	0	17493	372	13	3	512	3	YTHDC1	4	69184574	Missense_Mutation	SNP	A	TCGA-BR-8284-01A-11D-2340-08	21667076	69184574	121969702	84	48014											
NPFFR2	10886	broad.mit.edu	37	chr4	72897896	72897896	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggattctggttcctgccgCcgacagggctcgccgggaga	16	12	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:72897896C>A	uc003hgg.2	+	1	376	c.278C>A	c.(277-279)GCC>GAC	p.A93D	NPFFR2_uc010iig.1_5'UTR	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	93	Extracellular (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GTTCCTGCCGCCGACAGGGCT	0.642													A	72897896	C	A	72897896	3	1	66	1	0	0	0	0	1	0	0	0	10578	739	26	5	280	5	NPFFR2	4	72897896	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	3713322	72897896	118256380	85	48015											
FRAS1	80144	broad.mit.edu	37	chr4	79461950	79461950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccctgtcacagactggggCgtccattggcagtgccctgg	14	13	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:79461950C>T	uc003hlb.2	+	74	12151	c.11711C>T	c.(11710-11712)GCG>GTG	p.A3904V		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3899	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						CAGACTGGGGCGTCCATTGGC	0.493													T	79461950	C	T	79461950	3	4	66	1	0	0	0	0	1	0	0	0	6042	768	27	1	12080	1	FRAS1	4	79461950	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	6564054	79461950	111692326	86	48016											
SLC10A6	345274	broad.mit.edu	37	chr4	87744985	87744985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtcgatttcctcgtatgGcagacttctgtgcaacctga	10	10	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:87744985G>A	uc003hqd.2	-	6	1138	c.990C>T	c.(988-990)TGC>TGT	p.C330C		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	sodium-dependent organic anion transporter	330	Cytoplasmic (Potential).					integral to membrane|plasma membrane	bile acid:sodium symporter activity				0		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TCCTCGTATGGCAGACTTCTG	0.448													A	87744985	G	A	87744985	2	1	66	1	0	0	0	0	0	0	0	1	14378	1195	42	2		2	SLC10A6	4	87744985	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	8283035	87744985	103409291	87	48017											
ABCG2	9429	broad.mit.edu	37	chr4	89034556	89034556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgtagctgatctcctTgaagactgtgatcttcttct	11	8	4	4			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:89034556T>C	uc003hrg.2	-	9	1586	c.1093A>G	c.(1093-1095)AAG>GAG	p.K365E	ABCG2_uc003hrh.2_Missense_Mutation_p.K365E|ABCG2_uc003hrf.2_Missense_Mutation_p.K233E	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G, member 2	365	Cytoplasmic (Potential).				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CTGATCTCCTTGAAGACTGTG	0.443													C	89034556	T	C	89034556	3	2	66	1	0	0	0	0	1	0	0	0	69	1821	63	3	906	3	ABCG2	4	89034556	Missense_Mutation	SNP	T	TCGA-BR-8284-01A-11D-2340-08	1289571	89034556	102119720	88	48018											
DDIT4L	115265	broad.mit.edu	37	chr4	101109029	101109029	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcaaaagtaggtacgacGctagaatcacacacaatcct	7	11	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:101109029G>A	uc003hvq.2	-	3	590	c.387C>T	c.(385-387)AGC>AGT	p.S129S		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	129					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		TAGGTACGACGCTAGAATCAC	0.453													A	101109029	G	A	101109029	2	1	66	1	0	0	0	0	0	0	0	1	4332	1078	38	1		1	DDIT4L	4	101109029	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	12074473	101109029	90045247	89	48019											
TRAM1L1	133022	broad.mit.edu	37	chr4	118005517	118005517	+	Frame_Shift_Del	DEL	T	T	-													tcccactccgttttctgttcTttttttagaagatctcgacc							TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:118005516_118005516CT>C	uc003ibv.4	-	0	1221	c.1034_1034AG>G	c.(1033-1035)agafs	p.R345fs		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	345					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GTTTTCTGTTCTTTTTTTAGA	0.388													-	118005517	T	-	118005517	7	5	66	1	0	1	0	1	0	0	0	0	16449	1617	56	0	80	0	TRAM1L1	4	118005517	Frame_Shift_Del	DEL	T	TCGA-BR-8284-01A-11D-2340-08	16896488	118005517	73148759	90	48020											
C4orf31	79625	broad.mit.edu	37	chr4	121966924	121966924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagttcctcatcccgggtGggtaacttctgggtccttga	11	10	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:121966924G>A	uc003idq.1	-	2	596	c.69C>T	c.(67-69)CCC>CCT	p.P23P		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	23											0						CATCCCGGGTGGGTAACTTCT	0.473													A	121966924	G	A	121966924	2	1	66	1	0	0	0	0	0	0	0	1	2261	1335	47	4		4	C4orf31	4	121966924	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	3961407	121966924	69187352	91	48021											
PCDH10	57575	broad.mit.edu	37	chr4	134073201	134073201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgcatggactggcgcaccGgggagctgcgcacagcacgc	15	14	0	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:134073201G>A	uc003iha.2	+	1	2732	c.1906G>A	c.(1906-1908)GGG>AGG	p.G636R	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.G636R	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	636	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)		CTGGCGCACCGGGGAGCTGCG	0.682													A	134073201	G	A	134073201	3	1	66	1	0	0	0	0	1	0	0	0	11507	1116	39	1	1908	1	PCDH10	4	134073201	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	12106277	134073201	57081075	92	48022											
TLL1	7092	broad.mit.edu	37	chr4	166986858	166986858	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgcaaatatgattatgtggaGatctggagtggtctttcctc	11	6	2	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:166986858G>T	uc003irh.1	+	16	2678	c.2031G>T	c.(2029-2031)GAG>GAT	p.E677D	TLL1_uc011cjn.1_Missense_Mutation_p.E700D|TLL1_uc011cjo.1_Missense_Mutation_p.E501D	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	677	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATTATGTGGAGATCTGGAGTG	0.373													T	166986858	G	T	166986858	3	4	66	1	0	0	0	0	1	0	0	0	15942	933	33	5	2093	5	TLL1	4	166986858	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	32913657	166986858	24167418	93	48023											
FAM149A	25854	broad.mit.edu	37	chr4	187074826	187074826	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagacagctgatcctgccCactgacaaaggcgtccagca	11	13	0	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:187074826C>T	uc003iyt.3	+	5	693	c.114C>T	c.(112-114)CCC>CCT	p.P38P	FAM149A_uc011cla.1_Silent_p.P38P|FAM149A_uc010isj.2_Silent_p.P38P|FAM149A_uc010isk.2_RNA|FAM149A_uc003iyu.3_Silent_p.P38P|FAM149A_uc010isl.2_Silent_p.P38P|FAM149A_uc011clb.1_Silent_p.P38P	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	hypothetical protein LOC25854	329										breast(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TGATCCTGCCCACTGACAAAG	0.507													T	187074826	C	T	187074826	2	4	66	1	0	0	0	0	0	0	0	1	5455	581	21	4		4	FAM149A	4	187074826	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	20087968	187074826	4079450	94	48024											
ZFP42	132625	broad.mit.edu	37	chr4	188924094	188924094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaaatagaacctgtcagcGcggtgtgggccttatgtgat	14	8	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:188924094G>A	uc003izg.1	+	3	378	c.133G>A	c.(133-135)GCG>ACG	p.A45T	ZFP42_uc003izh.1_Missense_Mutation_p.A45T|ZFP42_uc003izi.1_Missense_Mutation_p.A45T	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	45					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		ACCTGTCAGCGCGGTGTGGGC	0.557													A	188924094	G	A	188924094	3	1	66	1	0	0	0	0	1	0	0	0	17647	1087	38	1	135	1	ZFP42	4	188924094	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	1849268	188924094	2230182	95	48025											
NDUFS6	4726	broad.mit.edu	37	chr5	1814513	1814513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgtgagcgaggtggagactCgggtgatagcgtgcgatggc	19	8	0	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:1814513C>T	uc003jcy.2	+	3	270	c.247C>T	c.(247-249)CGG>TGG	p.R83W		NM_004553	NP_004544	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6,	83					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)	1					NADH(DB00157)	GGTGGAGACTCGGGTGATAGC	0.507													T	1814513	C	T	1814513	3	4	66	1	0	0	0	0	1	0	0	0	10296	875	31	1	257	1	NDUFS6	5	1814513	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08		1814513	179100747	96	48026											
ADCY2	108	broad.mit.edu	37	chr5	7626396	7626396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtaattgcatcaagtcGcggatcaagttggaatttga	10	7	2	1	rs149422716		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:7626396G>A	uc003jdz.1	+	4	754	c.687G>A	c.(685-687)TCG>TCA	p.S229S		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	229	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						GCATCAAGTCGCGGATCAAGT	0.393													A	7626396	G	A	7626396	2	1	66	1	0	0	0	0	0	0	0	1	294	1074	38	1		1	ADCY2	5	7626396	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	5811883	7626396	173288864	97	48027											
DNAH5	1767	broad.mit.edu	37	chr5	13717570	13717570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgcaggaaagccactgCgtacagcatgggcttccact	13	11	0	0	rs141993196		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:13717570C>T	uc003jfd.2	-	73	12601	c.12559G>A	c.(12559-12561)GCA>ACA	p.A4187T	DNAH5_uc003jfc.2_Missense_Mutation_p.A355T	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4187	AAA 6 (By similarity).				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)					AAAGCCACTGCGTACAGCATG	0.537									Kartagener_syndrome				T	13717570	C	T	13717570	3	4	66	1	0	0	0	0	1	0	0	0	4604	768	27	1	1343	1	DNAH5	5	13717570	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	6091174	13717570	167197690	98	48028											
MYO10	4651	broad.mit.edu	37	chr5	16701576	16701576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagttgggcttctcctcGcatgcgctctcagccagctc	10	14	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:16701576G>A	uc003jft.3	-	25	3396	c.2928C>T	c.(2926-2928)TGC>TGT	p.C976C	MYO10_uc011cnc.1_5'Flank|MYO10_uc011cnd.1_Silent_p.C333C|MYO10_uc011cne.1_Silent_p.C333C|MYO10_uc010itx.2_Silent_p.C599C	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	976					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						GCTTCTCCTCGCATGCGCTCT	0.592													A	16701576	G	A	16701576	2	1	66	1	0	0	0	0	0	0	0	1	10062	1079	38	1		1	MYO10	5	16701576	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	2984006	16701576	164213684	99	48029											
CDH10	1008	broad.mit.edu	37	chr5	24492973	24492974	+	Frame_Shift_Ins	INS	-	-	A													attgacagcagctaaactgaINSaaaaaaatttctgtccacct							TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:24492972_24492973G>GA	uc003jgr.2	-	9	2083_2084	c.1577_1578C>TC	c.(1576-1578)ttcfs	p.F526fs	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	526	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F525V(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CAGCTAAACTGAAAAAAAATTT	0.317										HNSCC(23;0.051)			A	24492974	-	A	24492973	7	5	66	1	0	1	1	0	0	0	0	0	3096	246	9	0	801	0	CDH10	5	24492973	Frame_Shift_Ins	INS	-	TCGA-BR-8284-01A-11D-2340-08	7791397	24492973	156422287	100	48030											
RANBP3L	202151	broad.mit.edu	37	chr5	36257585	36257585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagttgacaggaaatttcGgaatggatttgaatggtttt	11	2	0	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:36257585G>A	uc003jkh.2	-	9	1236	c.743C>T	c.(742-744)CCG>CTG	p.P248L	RANBP3L_uc011cow.1_Missense_Mutation_p.P273L	NM_145000	NP_659437	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like isoform 2	248					intracellular transport					ovary(1)	1	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			AGGAAATTTCGGAATGGATTT	0.313													A	36257585	G	A	36257585	3	1	66	1	0	0	0	0	1	0	0	0	13030	1116	39	1	678	1	RANBP3L	5	36257585	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	11764612	36257585	144657675	101	48031											
CMYA5	202333	broad.mit.edu	37	chr5	79024982	79024982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggatgaagtgaaaaaggttCggaaaaggactcataagtca	12	4	2	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:79024982C>T	uc003kgc.2	+	2	466	c.394C>T	c.(394-396)CGG>TGG	p.R132W		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	132						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAAAAAGGTTCGGAAAAGGAC	0.408													T	79024982	C	T	79024982	3	4	66	1	0	0	0	0	1	0	0	0	3590	875	31	1	400	1	CMYA5	5	79024982	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	42767397	79024982	101890278	102	48032											
FBN2	2201	broad.mit.edu	37	chr5	127671202	127671202	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccctcactgcagctgcattcGtagcttccctctgaatttgt	7	14	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:127671202G>C	uc003kuu.2	-	29	4231	c.3792C>G	c.(3790-3792)TAC>TAG	p.Y1264*	FBN2_uc003kuv.2_Nonsense_Mutation_p.Y1231*	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1264	EGF-like 19; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGCTGCATTCGTAGCTTCCCT	0.438													C	127671202	G	C	127671202	4	2	66	1	0	0	0	0	0	1	0	0	5703	1140	40	5	5094	5	FBN2	5	127671202	Nonsense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	48646220	127671202	53244058	103	48033											
VDAC1	7416	broad.mit.edu	37	chr5	133311636	133311636	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttactgtttcctgctgtccAggcaagattgacagcggtct	11	10	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:133311636A>G	uc003kyp.1	-	7	727	c.628T>C	c.(628-630)TGG>CGG	p.W210R	VDAC1_uc003kyq.1_Missense_Mutation_p.W210R|VDAC1_uc003kyr.1_Missense_Mutation_p.W210R	NM_003374	NP_003365	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	210	Beta stranded.				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	CCTGCTGTCCAGGCAAGATTG	0.512													G	133311636	A	G	133311636	3	3	66	1	0	0	0	0	1	0	0	0	17143	188	7	3	235	3	VDAC1	5	133311636	Missense_Mutation	SNP	A	TCGA-BR-8284-01A-11D-2340-08	5640434	133311636	47603624	104	48034											
SMAD5	4090	broad.mit.edu	37	chr5	135513027	135513027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatctgttcattttcataggGttggggagcagaatatcacc	10	7	4	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:135513027G>A	uc003lbj.1	+	9	1700	c.1256G>A	c.(1255-1257)GGT>GAT	p.G419D	SMAD5_uc003lbk.1_Missense_Mutation_p.G419D|SMAD5_uc003lbl.1_Missense_Mutation_p.G419D	NM_001001419	NP_001001419	Q99717	SMAD5_HUMAN	SMAD family member 5	419	MH2.			G->S: Loss of phosphorylation.	BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTTCATAGGGTTGGGGAGCA	0.408													A	135513027	G	A	135513027	3	1	66	1	0	0	0	0	1	0	0	0	14761	1275	44	4	1278	4	SMAD5	5	135513027	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	2201391	135513027	45402233	105	48035											
CXXC5	51523	broad.mit.edu	37	chr5	139060342	139060342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgcgccgctcccgcccGctctcccactactcttcttt	6	21	3	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:139060342G>A	uc010jfg.1	+	2	524	c.234G>A	c.(232-234)CCG>CCA	p.P78P	CXXC5_uc003let.2_Silent_p.P78P	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	CXXC finger 5	78					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCCCGCCCGCTCTCCCACT	0.637													A	139060342	G	A	139060342	2	1	66	1	0	0	0	0	0	0	0	1	4099	1074	38	1		1	CXXC5	5	139060342	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	3547315	139060342	41854918	106	48036											
NRG2	9542	broad.mit.edu	37	chr5	139231209	139231209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcgctgtgtggggagtcGcgaagggagtccacggaatc	16	10	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:139231209G>A	uc003lex.1	-	9	1977	c.1752C>T	c.(1750-1752)CGC>CGT	p.R584R	NRG2_uc003lev.1_Silent_p.R592R|NRG2_uc003lew.1_Silent_p.R586R|NRG2_uc003ley.1_Silent_p.R578R	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	584	Cytoplasmic (Potential).				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|breast(2)|ovary(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGGAGTCGCGAAGGGAGT	0.672													A	139231209	G	A	139231209	2	1	66	1	0	0	0	0	0	0	0	1	10648	1074	38	1		1	NRG2	5	139231209	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	170867	139231209	41684051	107	48037											
PCDHAC2	56134	broad.mit.edu	37	chr5	140346661	140346661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgctcttcgtcaacgagCgcattgatcgggaggcgctg	15	11	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:140346661C>T	uc003lii.2	+	1	550	c.310C>T	c.(310-312)CGC>TGC	p.R104C	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.R104C	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	104	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCAACGAGCGCATTGATCG	0.667													T	140346661	C	T	140346661	3	4	66	1	0	0	0	0	1	0	0	0	11533	768	27	1	312	1	PCDHAC2	5	140346661	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	1115452	140346661	40568599	108	48038											
PCDHB10	56126	broad.mit.edu	37	chr5	140574118	140574118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacttgctcctggtggacGgcttctcccagccctacctg	10	16	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:140574118G>A	uc003lix.2	+	1	2167	c.1993G>A	c.(1993-1995)GGC>AGC	p.G665S		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	665	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGTGGACGGCTTCTCCCA	0.701													A	140574118	G	A	140574118	3	1	66	1	0	0	0	0	1	0	0	0	11535	1116	39	1	1995	1	PCDHB10	5	140574118	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	227457	140574118	40341142	109	48039											
PCDHB15	56121	broad.mit.edu	37	chr5	140627116	140627116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcgctcggccaccgccaCgctgcaagtgctcctggtgg	13	17	0	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:140627116C>T	uc003lje.2	+	1	1970	c.1970C>T	c.(1969-1971)ACG>ATG	p.T657M		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	657	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACCGCCACGCTGCAAGTG	0.697													T	140627116	C	T	140627116	3	4	66	1	0	0	0	0	1	0	0	0	11540	536	19	1	1972	1	PCDHB15	5	140627116	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	52998	140627116	40288144	110	48040											
TAF7	6879	broad.mit.edu	37	chr5	140699167	140699167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttctttgctgtcttccGgaaccttctcttcctgacat	5	13	4	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:140699167G>A	uc003ljg.2	-	1	1185	c.445C>T	c.(445-447)CGG>TGG	p.R149W		NM_005642	NP_005633	Q15545	TAF7_HUMAN	TATA box-binding protein-associated factor 2F	149					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGTCTTCCGGAACCTTCTC	0.398													A	140699167	G	A	140699167	3	1	66	1	0	0	0	0	1	0	0	0	15529	1115	39	1	608	1	TAF7	5	140699167	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	72051	140699167	40216093	111	48041											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720916	140720916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaaggattttttatcagCgcctcaatctctactcgaag	7	9	3	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:140720916C>T	uc003ljk.1	+	1	2563	c.2378C>T	c.(2377-2379)GCG>GTG	p.A793V	PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Missense_Mutation_p.A793V|PCDHGA3_uc011dap.1_5'Flank	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	793	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTTATCAGCGCCTCAATCT	0.453													T	140720916	C	T	140720916	3	4	66	1	0	0	0	0	1	0	0	0	11554	768	27	1	2380	1	PCDHGA2	5	140720916	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	21749	140720916	40194344	112	48042											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812130	140812130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagagactccggccagaacGcctggctgtcctaccgtctg	11	15	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:140812130G>A	uc003lkt.1	+	1	1973	c.1804G>A	c.(1804-1806)GCC>ACC	p.A602T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.A602T	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	602	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCCAGAACGCCTGGCTGTC	0.697													A	140812130	G	A	140812130	3	1	66	1	0	0	0	0	1	0	0	0	11553	1087	38	1	1806	1	PCDHGA12	5	140812130	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	91214	140812130	40103130	113	48043											
PDE6A	5145	broad.mit.edu	37	chr5	149294523	149294523	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacgggatgactttgatgtcCtctttgccatgcaggatgta	11	8	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:149294523C>A	uc003lrg.3	-	6	1101	c.981G>T	c.(979-981)GAG>GAT	p.E327D		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A	327	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTTTGATGTCCTCTTTGCCAT	0.194													A	149294523	C	A	149294523	3	1	66	1	0	0	0	0	1	0	0	0	11645	680	24	5	1669	5	PDE6A	5	149294523	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	8482393	149294523	31620737	114	48044											
KIF4B	285643	broad.mit.edu	37	chr5	154396439	154396439	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcagacagaaacatcttcCtaatgatacccttctatctc	4	13	3	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:154396439C>A	uc010jih.1	+	1	3180	c.3020C>A	c.(3019-3021)CCT>CAT	p.P1007H		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1007	Interaction with PRC1 (By similarity).|Globular (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAACATCTTCCTAATGATACC	0.428													A	154396439	C	A	154396439	3	1	66	1	0	0	0	0	1	0	0	0	8304	681	24	5	3022	5	KIF4B	5	154396439	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	5101916	154396439	26518821	115	48045											
FAM71B	153745	broad.mit.edu	37	chr5	156589984	156589984	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtctgtccttcttttctcttCtttccttgttttcattccag	4	12	5	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:156589984C>A	uc003lwn.2	-	2	1392	c.1292G>T	c.(1291-1293)AGA>ATA	p.R431I		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	431						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTTTCTCTTCTTTCCTTGTT	0.498													A	156589984	C	A	156589984	3	1	66	1	0	0	0	0	1	0	0	0	5608	913	32	5	529	5	FAM71B	5	156589984	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	2193545	156589984	24325276	116	48046											
EBF1	1879	broad.mit.edu	37	chr5	158141123	158141123	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctagacacccacagcgctcAcctggttgttgtgtggcatc	11	13	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:158141123A>G	uc010jip.2	-	12	1493	c.1191_splice	c.e12+1	p.Q397_splice	EBF1_uc011ddw.1_Splice_Site_p.Q265_splice|EBF1_uc011ddx.1_Splice_Site_p.Q398_splice|EBF1_uc003lxl.3_Splice_Site_p.Q366_splice	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor						multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACAGCGCTCACCTGGTTGTT	0.448			T	HMGA2	lipoma								G	158141123	A	G	158141123	5	3	66	1	0	0	0	0	0	0	1	0	4880	173	6	3	602	3	EBF1	5	158141123	Splice_Site	SNP	A	TCGA-BR-8284-01A-11D-2340-08	1551139	158141123	22774137	117	48047											
LCP2	3937	broad.mit.edu	37	chr5	169680150	169680150	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgggggatgggggccgAggtttgtttggaagtggcaa	20	6	0	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:169680150A>C	uc003man.1	-	18	1425	c.1218T>G	c.(1216-1218)CCT>CCG	p.P406P	LCP2_uc011des.1_Silent_p.P201P|LCP2_uc011det.1_Silent_p.P235P	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	406					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		ATGGGGGCCGAGGTTTGTTTG	0.453													C	169680150	A	C	169680150	2	2	66	1	0	0	0	0	0	0	0	1	8692	291	11	5		5	LCP2	5	169680150	Silent	SNP	A	TCGA-BR-8284-01A-11D-2340-08	11539027	169680150	11235110	118	48048											
CPEB4	80315	broad.mit.edu	37	chr5	173317108	173317108	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcaaggggacaattcttcGgaaaatggcaatgggaagga	13	5	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:173317108G>A	uc003mcs.3	+	1	1778	c.372G>A	c.(370-372)TCG>TCA	p.S124S	CPEB4_uc010jju.1_Silent_p.S124S|CPEB4_uc010jjv.2_Silent_p.S124S|CPEB4_uc011dfg.1_Silent_p.S124S|CPEB4_uc003mct.3_5'Flank|CPEB4_uc003mcu.3_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	124							nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACAATTCTTCGGAAAATGGCA	0.453													A	173317108	G	A	173317108	2	1	66	1	0	0	0	0	0	0	0	1	3803	1103	39	1		1	CPEB4	5	173317108	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	3636958	173317108	7598152	119	48049											
SERPINB6	5269	broad.mit.edu	37	chr6	2948552	2948552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacggagaggaaaagcggcCgcagaagagaatcccgttgg	15	9	1	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:2948552C>T	uc003muk.2	-	6	3106	c.1111G>A	c.(1111-1113)GGC>AGC	p.G371S	SERPINB6_uc003mui.2_Missense_Mutation_p.G254S|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.G371S|SERPINB6_uc003mum.2_Missense_Mutation_p.G371S|SERPINB6_uc003mun.2_Missense_Mutation_p.G371S|SERPINB6_uc003muo.2_Missense_Mutation_p.G371S	NM_004568	NP_004559	P35237	SPB6_HUMAN	serine (or cysteine) proteinase inhibitor, clade	371					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity				0	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	GAAAAGCGGCCGCAGAAGAGA	0.597													T	2948552	C	T	2948552	3	4	66	1	0	0	0	0	1	0	0	0	14105	652	23	1	23	1	SERPINB6	6	2948552	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08		2948552	168166515	120	48050											
HIVEP1	3096	broad.mit.edu	37	chr6	12164647	12164647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcccactgtgcacttcagcGacgtgagcagcgatgatgac	12	12	1	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:12164647G>A	uc003nac.2	+	9	8289	c.8110G>A	c.(8110-8112)GAC>AAC	p.D2704N	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	2704					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCACTTCAGCGACGTGAGCAG	0.468													A	12164647	G	A	12164647	3	1	66	1	0	0	0	0	1	0	0	0	7186	1058	37	1	8140	1	HIVEP1	6	12164647	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	9216095	12164647	158950420	121	48051											
BTN3A2	11118	broad.mit.edu	37	chr6	26370758	26370758	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatcatgagaggcggctcCggggagggtgtatcctgcat	17	8	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:26370758C>T	uc010jqh.1	+	5	901	c.642C>T	c.(640-642)TCC>TCT	p.S214S	BTN3A2_uc003nho.1_Silent_p.S212S|BTN3A2_uc003nhp.2_Silent_p.S214S|BTN3A2_uc011dkd.1_Silent_p.S172S|BTN3A2_uc011dke.1_Silent_p.S191S|BTN3A2_uc010jqi.1_Silent_p.S212S	NM_007047	NP_008978	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2 precursor	214	Extracellular (Potential).					integral to membrane					0						GAGGCGGCTCCGGGGAGGGTG	0.547													T	26370758	C	T	26370758	2	4	66	1	0	0	0	0	0	0	0	1	1563	639	23	1		1	BTN3A2	6	26370758	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	14206111	26370758	144744309	122	48052											
BTN2A2	10385	broad.mit.edu	37	chr6	26388404	26388404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttccatcgctgatgctgaCggcctcttcatggtcaccac	9	14	3	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:26388404C>T	uc003nhq.2	+	4	692	c.606C>T	c.(604-606)GAC>GAT	p.D202D	BTN2A2_uc011dkf.1_Silent_p.D86D|BTN2A2_uc011dkg.1_Intron|BTN2A2_uc003nhr.2_Silent_p.D86D|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Silent_p.D202D|BTN2A2_uc003nht.2_Silent_p.D202D|BTN2A2_uc011dki.1_5'Flank	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	202	Extracellular (Potential).|Ig-like C2-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						CTGATGCTGACGGCCTCTTCA	0.567													T	26388404	C	T	26388404	2	4	66	1	0	0	0	0	0	0	0	1	1561	535	19	1		1	BTN2A2	6	26388404	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	17646	26388404	144726663	123	48053											
HIST1H2BJ	8970	broad.mit.edu	37	chr6	27100525	27100525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagacttcgctggctctGgcatagcactgtgtagctat	12	10	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:27100525G>A	uc003niv.2	-	1	51	c.5C>T	c.(4-6)CCA>CTA	p.P2L	HIST1H2BJ_uc003niu.1_RNA|HIST1H2AG_uc003niw.2_5'Flank	NM_021058	NP_066402	P06899	H2B1J_HUMAN	histone cluster 1, H2bj	2					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding				0						CGCTGGCTCTGGCATAGCACT	0.522													A	27100525	G	A	27100525	3	1	66	1	0	0	0	0	1	0	0	0	7149	1348	47	4	379	4	HIST1H2BJ	6	27100525	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	712121	27100525	144014542	124	48054											
HIST1H1B	3009	broad.mit.edu	37	chr6	27834673	27834673	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcctttgcagctttaggtTttgctgctttgggcttagcg	13	8	0	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:27834673T>C	uc003njx.2	-	1	687	c.635A>G	c.(634-636)AAA>AGA	p.K212R		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	212					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						AGCTTTAGGTTTTGCTGCTTT	0.547													C	27834673	T	C	27834673	3	2	66	1	0	0	0	0	1	0	0	0	7123	1841	64	3	49	3	HIST1H1B	6	27834673	Missense_Mutation	SNP	T	TCGA-BR-8284-01A-11D-2340-08	734148	27834673	143280394	125	48055											
USP49	25862	broad.mit.edu	37	chr6	41774530	41774530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccggacttccatggctagCgggtgtcccgtctcctcaaa	10	15	2	0	rs139392645		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:41774530C>T	uc003ori.2	-	4	414	c.192G>A	c.(190-192)CCG>CCA	p.P64P		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	64	UBP-type.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCATGGCTAGCGGGTGTCCCG	0.582													T	41774530	C	T	41774530	2	4	66	1	0	0	0	0	0	0	0	1	17077	755	27	1		1	USP49	6	41774530	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	13939857	41774530	129340537	126	48056											
CUL7	9820	broad.mit.edu	37	chr6	43013989	43013989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttacctgatgaggatgcccCggcgcatgtgcagggtgatg	16	9	0	3	rs45574335	byFrequency	TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:43013989C>T	uc003otq.2	-	12	2948	c.2645G>A	c.(2644-2646)CGG>CAG	p.R882Q	CUL7_uc010jyg.2_Missense_Mutation_p.R161Q|CUL7_uc011dvb.1_Missense_Mutation_p.R966Q|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	882	DOC.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GAGGATGCCCCGGCGCATGTG	0.612													T	43013989	C	T	43013989	3	4	66	1	0	0	0	0	1	0	0	0	4060	652	23	1	2511	1	CUL7	6	43013989	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	1239459	43013989	128101078	127	48057											
CRISP1	167	broad.mit.edu	37	chr6	49803156	49803156	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catagtagatgcaggggttaGctgaaagaaaatagtatggt	13	3	0	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:49803156G>T	uc003ozw.2	-	8	702	c.623C>A	c.(622-624)ACT>AAT	p.T208N	CRISP1_uc003ozx.2_Missense_Mutation_p.D178E	NM_001131	NP_001122	P54107	CRIS1_HUMAN	acidic epididymal glycoprotein-like 1 isoform 1	208					fusion of sperm to egg plasma membrane	extracellular space					0	Lung NSC(77;0.0358)					GCAGGGGTTAGCTGAAAGAAA	0.348													T	49803156	G	T	49803156	3	4	66	1	0	0	0	0	1	0	0	0	3879	985	34	5	130	5	CRISP1	6	49803156	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	6789167	49803156	121311911	128	48058											
LMBRD1	55788	broad.mit.edu	37	chr6	70423555	70423555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttcaggggacgcagagcGccacaaaattttgtccacca	9	13	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:70423555G>A	uc003pfa.2	-	9	1012	c.897C>T	c.(895-897)GGC>GGT	p.G299G	LMBRD1_uc003pey.2_Silent_p.G95G|LMBRD1_uc003pez.2_Silent_p.G226G|LMBRD1_uc010kal.2_Silent_p.G226G|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	299	Cytoplasmic (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1						GACGCAGAGCGCCACAAAATT	0.393													A	70423555	G	A	70423555	2	1	66	1	0	0	0	0	0	0	0	1	8842	1074	38	1		1	LMBRD1	6	70423555	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	20620399	70423555	100691512	129	48059											
MDN1	23195	broad.mit.edu	37	chr6	90402780	90402780	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcctgaaccagggactcGtaggcaggcagctggggtct	14	11	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:90402780G>A	uc003pnn.1	-	63	10085	c.9969C>T	c.(9967-9969)TAC>TAT	p.Y3323Y		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3323					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCAGGGACTCGTAGGCAGGCA	0.552													A	90402780	G	A	90402780	2	1	66	1	0	0	0	0	0	0	0	1	9415	1140	40	1		1	MDN1	6	90402780	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	19979225	90402780	80712287	130	48060											
C6orf182	285753	broad.mit.edu	37	chr6	109466443	109466443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatggattctgaattaatgCatagtatagtaggaagctat	9	3	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:109466443C>T	uc010kdk.2	+	4	596	c.19C>T	c.(19-21)CAT>TAT	p.H7Y	C6orf182_uc003psv.3_Missense_Mutation_p.H7Y|C6orf182_uc003psw.3_Missense_Mutation_p.H7Y|C6orf182_uc003psx.3_Missense_Mutation_p.H7Y|C6orf182_uc010kdl.2_Missense_Mutation_p.H7Y|C6orf182_uc003psy.3_Missense_Mutation_p.H7Y	NM_001083535	NP_001077004	Q8IYX8	CE57L_HUMAN	hypothetical protein LOC285753	7						microtubule|microtubule organizing center					0		all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11)		BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)		TGAATTAATGCATAGTATAGT	0.338													T	109466443	C	T	109466443	3	4	66	1	0	0	0	0	1	0	0	0	2346	710	25	2	21	2	C6orf182	6	109466443	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	19063663	109466443	61648624	131	48061											
MICAL1	64780	broad.mit.edu	37	chr6	109771540	109771540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccagtcccagcagcaggCgggcgccatgcttctcttgc	11	17	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:109771540C>T	uc003ptj.2	-	7	1408	c.1154G>A	c.(1153-1155)CGC>CAC	p.R385H	MICAL1_uc003ptk.2_Missense_Mutation_p.R385H|MICAL1_uc010kdr.2_Intron|MICAL1_uc011eaq.1_Missense_Mutation_p.R404H	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	385					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CAGCAGCAGGCGGGCGCCATG	0.617													T	109771540	C	T	109771540	3	4	66	1	0	0	0	0	1	0	0	0	9569	768	27	1	2121	1	MICAL1	6	109771540	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	305097	109771540	61343527	132	48062											
RSPO3	84870	broad.mit.edu	37	chr6	127440347	127440347	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgggttactatgcacttgCgactgatttcttggcttttt	9	8	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:127440347C>T	uc003qar.2	+	1	300	c.10C>T	c.(10-12)CGA>TGA	p.R4*	uc003qaq.1_Intron|RSPO3_uc003qas.1_Nonsense_Mutation_p.R4*	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	R-spondin 3 precursor	4						extracellular region	heparin binding				0				GBM - Glioblastoma multiforme(226;0.0555)		TATGCACTTGCGACTGATTTC	0.398													T	127440347	C	T	127440347	4	4	66	1	0	0	0	0	0	1	0	0	13711	760	27	1	12	1	RSPO3	6	127440347	Nonsense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	17668807	127440347	43674720	133	48063											
TCF21	6943	broad.mit.edu	37	chr6	134210545	134210545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccccaaacatgtccaccGgctccctcagcgatgtggag	9	17	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:134210545G>A	uc003qei.3	+	1	286	c.10G>A	c.(10-12)GGC>AGC	p.G4S	uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.G4S	NM_003206	NP_003197	O43680	TCF21_HUMAN	transcription factor 21	4					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity				0	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CATGTCCACCGGCTCCCTCAG	0.343													A	134210545	G	A	134210545	3	1	66	1	0	0	0	0	1	0	0	0	15688	1116	39	1	12	1	TCF21	6	134210545	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	6770198	134210545	36904522	134	48064											
ALDH8A1	64577	broad.mit.edu	37	chr6	135239833	135239833	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggggacgacacacgtcactGgaccaaatatctcttccgtc	9	13	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:135239833G>T	uc003qew.2	-	7	1237	c.1184C>A	c.(1183-1185)CCA>CAA	p.P395Q	ALDH8A1_uc003qex.2_Missense_Mutation_p.P341Q|ALDH8A1_uc010kgh.2_Missense_Mutation_p.P173Q|ALDH8A1_uc011ecx.1_Missense_Mutation_p.P345Q	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8A1 isoform 1	395					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		ACACGTCACTGGACCAAATAT	0.512													T	135239833	G	T	135239833	3	4	66	1	0	0	0	0	1	0	0	0	505	1348	47	5	283	5	ALDH8A1	6	135239833	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	1029288	135239833	35875234	135	48065											
MYCT1	80177	broad.mit.edu	37	chr6	153043061	153043061	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacagaactggattttaccgCcacagtggctgtgaacgtcg	11	10	0	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:153043061C>A	uc003qpd.3	+	2	389	c.381C>A	c.(379-381)CGC>CGA	p.R127R	MYCT1_uc010kjc.1_Intron|MYCT1_uc003qpc.3_Silent_p.R127R	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	myc target 1	127						nucleus				ovary(1)	1		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		GATTTTACCGCCACAGTGGCT	0.512													A	153043061	C	A	153043061	2	1	66	1	0	0	0	0	0	0	0	1	10022	726	26	5		5	MYCT1	6	153043061	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	17803228	153043061	18072006	136	48066											
IPCEF1	26034	broad.mit.edu	37	chr6	154520863	154520863	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaagatggtcatgattgctActcaatgaagaagtatcatc	9	6	3	4			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:154520863A>G	uc003qpx.2	-	10	1002	c.846T>C	c.(844-846)AGT>AGC	p.S282S	OPRM1_uc003qpt.1_Intron|IPCEF1_uc003qpv.2_Silent_p.S153S|IPCEF1_uc003qpw.2_Silent_p.S283S|IPCEF1_uc010kjh.2_Silent_p.S283S	NM_015553	NP_056368	Q8WWN9	ICEF1_HUMAN	phosphoinositide-binding protein PIP3-E isoform	282	Ser-rich.				response to oxidative stress	cytoplasm|plasma membrane	oxygen transporter activity|peroxidase activity				0						CATGATTGCTACTCAATGAAG	0.393													G	154520863	A	G	154520863	2	3	66	1	0	0	0	0	0	0	0	1	7791	388	14	3		3	IPCEF1	6	154520863	Silent	SNP	A	TCGA-BR-8284-01A-11D-2340-08	1477802	154520863	16594204	137	48067											
ARID1B	57492	broad.mit.edu	37	chr6	157222537	157222537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtatggacagcaaggtGtgagtggttactgccagcag	14	8	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:157222537G>A	uc003qqn.2	+	3	1743	c.1591G>A	c.(1591-1593)GTG>ATG	p.V531M	ARID1B_uc003qqo.2_Missense_Mutation_p.V544M|ARID1B_uc003qqp.2_Missense_Mutation_p.V531M	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	589	Gln-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ACAGCAAGGTGTGAGTGGTTA	0.502													A	157222537	G	A	157222537	3	1	66	1	0	0	0	0	1	0	0	0	914	1377	48	4	1818	4	ARID1B	6	157222537	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	2701674	157222537	13892530	138	48068											
IGF2R	3482	broad.mit.edu	37	chr6	160468929	160468929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctccacgctggagcagtacGacctctccaggtgaggcaga	12	14	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:160468929G>A	uc003qta.2	+	17	2483	c.2335G>A	c.(2335-2337)GAC>AAC	p.D779N		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	779	5.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GGAGCAGTACGACCTCTCCAG	0.577													A	160468929	G	A	160468929	3	1	66	1	0	0	0	0	1	0	0	0	7576	1058	37	1	2401	1	IGF2R	6	160468929	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	3246392	160468929	10646138	139	48069											
LPA	4018	broad.mit.edu	37	chr6	161006078	161006078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctaacatgatagacatacGcatttggatagtataatggg	11	5	0	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:161006078G>A	uc003qtl.2	-	27	4409	c.4289C>T	c.(4288-4290)GCT>GTT	p.A1430V		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3938	Kringle 35.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAGACATACGCATTTGGATA	0.433													A	161006078	G	A	161006078	3	1	66	1	0	0	0	0	1	0	0	0	8903	1101	38	1	1889	1	LPA	6	161006078	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	537149	161006078	10108989	140	48070											
PARK2	5071	broad.mit.edu	37	chr6	161781145	161781145	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttccactggtacatggcaGcggggacagggcttggtggt	16	8	0	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:161781145G>A	uc003qtx.3	-	11	1394	c.1260C>T	c.(1258-1260)CGC>CGT	p.R420R	PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Silent_p.R229R|PARK2_uc003qtw.3_Intron|PARK2_uc003qty.3_Silent_p.R392R|PARK2_uc003qtz.3_Silent_p.R271R|PARK2_uc011egf.1_Silent_p.R94R	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	420	RING-type 2.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTACATGGCAGCGGGGACAGG	0.458													A	161781145	G	A	161781145	2	1	66	1	0	0	0	0	0	0	0	1	11449	958	34	2		2	PARK2	6	161781145	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	775067	161781145	9333922	141	48071											
SUN1	23353	broad.mit.edu	37	chr7	892494	892494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcttttcgttcttgcccGtgttgaactgggcaagcatg	10	9	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:892494G>A	uc011jvp.1	+	10	1037	c.958G>A	c.(958-960)GTG>ATG	p.V320M	GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.V237M|SUN1_uc011jvq.1_Missense_Mutation_p.V217M|SUN1_uc003sjg.2_Missense_Mutation_p.V225M|SUN1_uc011jvr.1_Missense_Mutation_p.V129M|SUN1_uc003sji.2_Missense_Mutation_p.V158M|SUN1_uc003sjk.2_Translation_Start_Site	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	347	Perinuclear space.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						GTTCTTGCCCGTGTTGAACTG	0.532													A	892494	G	A	892494	3	1	66	1	0	0	0	0	1	0	0	0	15388	1145	40	1	1175	1	SUN1	7	892494	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08		892494	158246169	142	48072											
SDK1	221935	broad.mit.edu	37	chr7	4185509	4185509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agacgaggcagggctgggggGagccactggaggccaccgtc	19	11	0	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:4185509G>A	uc003smx.2	+	29	4523	c.4384G>A	c.(4384-4386)GAG>AAG	p.E1462K	SDK1_uc010kso.2_Missense_Mutation_p.E738K|SDK1_uc003smy.2_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1462	Fibronectin type-III 8.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGGCTGGGGGGAGCCACTGGA	0.642													A	4185509	G	A	4185509	3	1	66	1	0	0	0	0	1	0	0	0	13968	1175	41	4	4498	4	SDK1	7	4185509	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	3293015	4185509	154953154	143	48073											
USP42	84132	broad.mit.edu	37	chr7	6187480	6187480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaccaacaaacaggctgCgccaggctttatcggaccac	9	14	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:6187480C>T	uc011jwo.1	+	12	1466	c.1343C>T	c.(1342-1344)GCG>GTG	p.A448V	USP42_uc010kth.1_Missense_Mutation_p.A381V|USP42_uc011jwp.1_Missense_Mutation_p.A448V|USP42_uc011jwq.1_Missense_Mutation_p.A255V|USP42_uc011jwr.1_Missense_Mutation_p.A293V	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	448					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AAACAGGCTGCGCCAGGCTTT	0.478													T	6187480	C	T	6187480	3	4	66	1	0	0	0	0	1	0	0	0	17070	768	27	1	1385	1	USP42	7	6187480	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	2001971	6187480	152951183	144	48074											
DAGLB	221955	broad.mit.edu	37	chr7	6485687	6485687	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaaggctccaccagcacaGtccagctttcctctgtgcat	8	15	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:6485687G>A	uc003sqa.2	-	2	314	c.144C>T	c.(142-144)GAC>GAT	p.D48D	DAGLB_uc011jwu.1_Silent_p.D48D|DAGLB_uc003sqb.2_Intron|DAGLB_uc003sqc.2_5'UTR|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Silent_p.D7D|DAGLB_uc011jww.1_RNA	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	48	Extracellular (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CACCAGCACAGTCCAGCTTTC	0.473													A	6485687	G	A	6485687	2	1	66	1	0	0	0	0	0	0	0	1	4227	1020	36	4		4	DAGLB	7	6485687	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	298207	6485687	152652976	145	48075											
AGR3	155465	broad.mit.edu	37	chr7	16900207	16900207	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctaactgttaaagaagggTctgtcaaggaaaaaaccaag	9	7	3	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:16900207T>C	uc003sts.2	-	7	441	c.368A>G	c.(367-369)GAC>GGC	p.D123G		NM_176813	NP_789783	Q8TD06	AGR3_HUMAN	breast cancer membrane protein 11 precursor	123						extracellular region					0	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TAAAGAAGGGTCTGTCAAGGA	0.303													C	16900207	T	C	16900207	3	2	66	1	0	0	0	0	1	0	0	0	396	1681	58	3	140	3	AGR3	7	16900207	Missense_Mutation	SNP	T	TCGA-BR-8284-01A-11D-2340-08	10414520	16900207	142238456	146	48076											
SP4	6671	broad.mit.edu	37	chr7	21521594	21521594	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatctgtcatattgaaggaTgtggtaaagtttatggcaaa	10	3	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:21521594T>C	uc003sva.2	+	5	2141	c.1960T>C	c.(1960-1962)TGT>CGT	p.C654R	SP4_uc003svb.2_Missense_Mutation_p.C341R	NM_003112	NP_003103	Q02446	SP4_HUMAN	Sp4 transcription factor	654	C2H2-type 1.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(3)|skin(2)	5						TATTGAAGGATGTGGTAAAGT	0.378													C	21521594	T	C	21521594	3	2	66	1	0	0	0	0	1	0	0	0	14966	1464	51	3	1978	3	SP4	7	21521594	Missense_Mutation	SNP	T	TCGA-BR-8284-01A-11D-2340-08	4621387	21521594	137617069	147	48077											
DNAH11	8701	broad.mit.edu	37	chr7	21779241	21779241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccataactgccagtatgtcGcctgcatgaatccgatggtg	10	11	0	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:21779241G>A	uc003svc.2	+	49	7916	c.7885G>A	c.(7885-7887)GCC>ACC	p.A2629T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2629	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CCAGTATGTCGCCTGCATGAA	0.423									Kartagener_syndrome				A	21779241	G	A	21779241	3	1	66	1	0	0	0	0	1	0	0	0	4599	1087	38	1	8076	1	DNAH11	7	21779241	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	257647	21779241	137359422	148	48078											
DNAH11	8701	broad.mit.edu	37	chr7	21923928	21923928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcccatgggaagatctccGttatctctttggtgagatca	11	9	3	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:21923928G>A	uc003svc.2	+	77	12459	c.12428G>A	c.(12427-12429)CGT>CAT	p.R4143H		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4143					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GAAGATCTCCGTTATCTCTTT	0.488									Kartagener_syndrome				A	21923928	G	A	21923928	3	1	66	1	0	0	0	0	1	0	0	0	4599	1145	40	1	12731	1	DNAH11	7	21923928	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	144687	21923928	137214735	149	48079											
OSBPL3	26031	broad.mit.edu	37	chr7	24901354	24901354	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaattaggattggaggagTgtagtcttactgggccagaa	13	5	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:24901354T>C	uc003sxf.2	-	10	1310	c.905A>G	c.(904-906)CAC>CGC	p.H302R	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.H302R|OSBPL3_uc003sxh.2_Missense_Mutation_p.H271R|OSBPL3_uc003sxi.2_Missense_Mutation_p.H271R|OSBPL3_uc003sxj.1_Missense_Mutation_p.H67R|OSBPL3_uc003sxk.1_Missense_Mutation_p.H36R	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	302					lipid transport		lipid binding|protein binding			skin(1)	1						ATTGGAGGAGTGTAGTCTTAC	0.368													C	24901354	T	C	24901354	3	2	66	1	0	0	0	0	1	0	0	0	11279	1696	59	3	1814	3	OSBPL3	7	24901354	Missense_Mutation	SNP	T	TCGA-BR-8284-01A-11D-2340-08	2977426	24901354	134237309	150	48080											
SFRP4	6424	broad.mit.edu	37	chr7	37951870	37951870	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttacatccaccaccgttgtGacctcattgcagccactcct	5	16	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:37951870G>A	uc003tfo.3	-	4	1028	c.642C>T	c.(640-642)GTC>GTT	p.V214V		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	214	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(1)	1						CCACCGTTGTGACCTCATTGC	0.418													A	37951870	G	A	37951870	2	1	66	1	0	0	0	0	0	0	0	1	14163	1277	45	4		4	SFRP4	7	37951870	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	13050516	37951870	121186793	151	48081											
NPC1L1	29881	broad.mit.edu	37	chr7	44579712	44579712	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcgcttccagtgataccagcTgcttggcggagcagcaggct	13	12	0	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:44579712T>A	uc003tlb.2	-	2	340	c.284A>T	c.(283-285)CAG>CTG	p.Q95L	NPC1L1_uc003tlc.2_Missense_Mutation_p.Q95L|NPC1L1_uc011kbw.1_Missense_Mutation_p.Q95L|NPC1L1_uc003tld.2_Missense_Mutation_p.Q95L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	95	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	TGATACCAGCTGCTTGGCGGA	0.597													A	44579712	T	A	44579712	3	1	66	1	0	0	0	0	1	0	0	0	10571	1580	55	5	3871	5	NPC1L1	7	44579712	Missense_Mutation	SNP	T	TCGA-BR-8284-01A-11D-2340-08	6627842	44579712	114558951	152	48082											
PKD1L1	168507	broad.mit.edu	37	chr7	47968815	47968815	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttaccttttgagtactggTggtaggcagtcaccgccatt	10	11	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:47968815T>C	uc003tny.1	-	7	1046	c.1046A>G	c.(1045-1047)CAC>CGC	p.H349R		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	349	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						TGAGTACTGGTGGTAGGCAGT	0.522													C	47968815	T	C	47968815	3	2	66	1	0	0	0	0	1	0	0	0	11964	1696	59	3	7707	3	PKD1L1	7	47968815	Missense_Mutation	SNP	T	TCGA-BR-8284-01A-11D-2340-08	3389103	47968815	111169848	153	48083											
ABCA13	154664	broad.mit.edu	37	chr7	48391962	48391962	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgggttcaaatataactaCgtctttgccccactgcaaga	8	10	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:48391962C>A	uc003toq.2	+	31	10591	c.10566C>A	c.(10564-10566)TAC>TAA	p.Y3522*	ABCA13_uc010kys.1_Nonsense_Mutation_p.Y596*|ABCA13_uc003tos.1_Nonsense_Mutation_p.Y348*	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3522					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AATATAACTACGTCTTTGCCC	0.502													A	48391962	C	A	48391962	4	1	66	1	0	0	0	0	0	1	0	0	31	547	19	5	10517	5	ABCA13	7	48391962	Nonsense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	423147	48391962	110746701	154	48084											
AKAP9	10142	broad.mit.edu	37	chr7	91694563	91694563	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaattactacaggagacagAaaaattaatgaaggaaaaac	8	4	0	4			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:91694563A>G	uc003ulg.2	+	25	6221	c.5996A>G	c.(5995-5997)GAA>GGA	p.E1999G	AKAP9_uc003ulf.2_Missense_Mutation_p.E1999G|AKAP9_uc003uli.2_Missense_Mutation_p.E1622G	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2011	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAGGAGACAGAAAAATTAATG	0.289			T	BRAF	papillary thyroid								G	91694563	A	G	91694563	3	3	66	1	0	0	0	0	1	0	0	0	459	246	9	3	6094	3	AKAP9	7	91694563	Missense_Mutation	SNP	A	TCGA-BR-8284-01A-11D-2340-08	43302601	91694563	67444100	155	48085											
ZAN	7455	broad.mit.edu	37	chr7	100348417	100348417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcctgggaagtcctgcGgggagtcccccgattcctct	11	16	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:100348417G>A	uc003uwj.2	+	12	1584	c.1419G>A	c.(1417-1419)GCG>GCA	p.A473A	ZAN_uc003uwk.2_Silent_p.A473A|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	473	MAM 3.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GAAGTCCTGCGGGGAGTCCCC	0.622													A	100348417	G	A	100348417	2	1	66	1	0	0	0	0	0	0	0	1	17510	1103	39	1		1	ZAN	7	100348417	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	8653854	100348417	58790246	156	48086											
SLC26A4	5172	broad.mit.edu	37	chr7	107303837	107303837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaatggctgcttagtgaCgtcatttcgggagttagtac	13	6	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:107303837C>T	uc003vep.2	+	3	485	c.261C>T	c.(259-261)GAC>GAT	p.D87D	LOC286002_uc003veo.3_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	87	Cytoplasmic (Potential).				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)	7						TGCTTAGTGACGTCATTTCGG	0.498									Pendred_syndrome				T	107303837	C	T	107303837	2	4	66	1	0	0	0	0	0	0	0	1	14519	535	19	1		1	SLC26A4	7	107303837	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	6955420	107303837	51834826	157	48087											
DOCK4	9732	broad.mit.edu	37	chr7	111368486	111368486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggagaggctgtgaggtagCgggacggggcgccgcagagt	21	7	0	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:111368486C>T	uc003vfx.2	-	52	6014	c.5745G>A	c.(5743-5745)CCG>CCA	p.P1915P	DOCK4_uc011kml.1_Silent_p.P796P|DOCK4_uc011kmm.1_Silent_p.P784P|DOCK4_uc003vfw.2_Silent_p.P1327P|DOCK4_uc003vfy.2_Silent_p.P1960P|DOCK4_uc003vfv.2_Silent_p.P228P	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1915	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				TGTGAGGTAGCGGGACGGGGC	0.716													T	111368486	C	T	111368486	2	4	66	1	0	0	0	0	0	0	0	1	4689	755	27	1		1	DOCK4	7	111368486	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	4064649	111368486	47770177	158	48088											
PLXNA4	91584	broad.mit.edu	37	chr7	131830026	131830026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatggtctcaaagaggtcatCcacaaacttctgcagtgtgc	10	10	3	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:131830026C>T	uc003vra.3	-	29	5306	c.5077G>A	c.(5077-5079)GAT>AAT	p.D1693N	PLXNA4_uc003vqz.3_5'UTR	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1693	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						AAGAGGTCATCCACAAACTTC	0.537													T	131830026	C	T	131830026	3	4	66	1	0	0	0	0	1	0	0	0	12122	855	30	4	623	4	PLXNA4	7	131830026	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	20461540	131830026	27308637	159	48089											
OR2A5	393046	broad.mit.edu	37	chr7	143747978	143747978	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggccctggtccatgtggttCtcatcctgaggctgcccttc	11	14	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:143747978C>T	uc011ktw.1	+	1	484	c.484C>T	c.(484-486)CTC>TTC	p.L162F		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A,	162	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0783)					CCATGTGGTTCTCATCCTGAG	0.537													T	143747978	C	T	143747978	3	4	66	1	0	0	0	0	1	0	0	0	10981	913	32	4	486	4	OR2A5	7	143747978	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	11917952	143747978	15390685	160	48090											
OR2A25	392138	broad.mit.edu	37	chr7	143772113	143772113	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccagtatgagagccccaaGgagcagaagaaatatctcct	9	12	1	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:143772113G>T	uc011ktx.1	+	1	801	c.801G>T	c.(799-801)AAG>AAT	p.K267N		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)					AGAGCCCCAAGGAGCAGAAGA	0.463													T	143772113	G	T	143772113	3	4	66	1	0	0	0	0	1	0	0	0	10978	991	35	5	803	5	OR2A25	7	143772113	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	24135	143772113	15366550	161	48091											
GIMAP6	474344	broad.mit.edu	37	chr7	150325544	150325544	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcttcccactccctgtttTccccatgagaatgagcctca	5	16	2	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:150325544T>C	uc003whn.2	-	3	566	c.142A>G	c.(142-144)AAA>GAA	p.K48E	GIMAP6_uc003whm.2_Intron	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	48	GTP (Potential).						GTP binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCCTGTTTTCCCCATGAGA	0.532													C	150325544	T	C	150325544	3	2	66	1	0	0	0	0	1	0	0	0	6383	1792	62	3	740	3	GIMAP6	7	150325544	Missense_Mutation	SNP	T	TCGA-BR-8284-01A-11D-2340-08	6553431	150325544	8813119	162	48092											
SGK223	157285	broad.mit.edu	37	chr8	8176049	8176049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcggcaggtcctcctgcCggtagtctctctcccgcagc	13	17	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr8:8176049C>T	uc003wsh.3	-	5	3836	c.3836G>A	c.(3835-3837)CGG>CAG	p.R1279Q		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	1279	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GTCCTCCTGCCGGTAGTCTCT	0.647													T	8176049	C	T	8176049	3	4	66	1	0	0	0	0	1	0	0	0	14210	652	23	1	376	1	SGK223	8	8176049	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08		8176049	138187973	163	48093											
GNRH1	2796	broad.mit.edu	37	chr8	25280807	25280807	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccttccacgcaccaagtcaGtagaataaggccagctagga	10	12	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr8:25280807G>T	uc003xem.3	-	2	881	c.40C>A	c.(40-42)CTG>ATG	p.L14M	PPP2R2A_uc003xek.2_Intron|GNRH1_uc003xen.3_Missense_Mutation_p.L14M	NM_001083111	NP_001076580	P01148	GON1_HUMAN	gonadotropin-releasing hormone 1 precursor	14					cell-cell signaling|multicellular organismal development|negative regulation of cell proliferation|signal transduction	soluble fraction	gonadotropin hormone-releasing hormone activity			large_intestine(1)	1		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385)		CACCAAGTCAGTAGAATAAGG	0.443													T	25280807	G	T	25280807	3	4	66	1	0	0	0	0	1	0	0	0	6547	1020	36	5	250	5	GNRH1	8	25280807	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	17104758	25280807	121083215	164	48094											
DUSP26	78986	broad.mit.edu	37	chr8	33449592	33449592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgcctcaggaagcccCggttggggatgatgcctcgg	17	11	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr8:33449592C>T	uc003xjp.2	-	4	908	c.575G>A	c.(574-576)CGG>CAG	p.R192Q	DUSP26_uc003xjq.2_Missense_Mutation_p.R192Q	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26	192	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		CAGGAAGCCCCGGTTGGGGAT	0.647													T	33449592	C	T	33449592	3	4	66	1	0	0	0	0	1	0	0	0	4823	652	23	1	64	1	DUSP26	8	33449592	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	8168785	33449592	112914430	165	48095											
PXDNL	137902	broad.mit.edu	37	chr8	52321502	52321502	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgtaaacgttggagccatcGatgtaggctgtttgctggtt	13	8	0	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr8:52321502G>A	uc003xqu.3	-	17	2783	c.2682C>T	c.(2680-2682)ATC>ATT	p.I894I	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	894					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGGAGCCATCGATGTAGGCTG	0.622													A	52321502	G	A	52321502	2	1	66	1	0	0	0	0	0	0	0	1	12848	1048	37	1		1	PXDNL	8	52321502	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	18871910	52321502	94042520	166	48096											
XKR4	114786	broad.mit.edu	37	chr8	56436682	56436682	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttttggaccgaagcctcCgaaaggctattttagctttt	9	8	0	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr8:56436682C>T	uc003xsf.2	+	3	1881	c.1849C>T	c.(1849-1851)CGA>TGA	p.R617*		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	617						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			CCGAAGCCTCCGAAAGGCTAT	0.458													T	56436682	C	T	56436682	4	4	66	1	0	0	0	0	0	1	0	0	17430	644	23	1	1859	1	XKR4	8	56436682	Nonsense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	4115180	56436682	89927340	167	48097											
CSMD3	114788	broad.mit.edu	37	chr8	113702268	113702268	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accaggatcaccacaactttCtttctcaatttctggaaaaa	4	11	4	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr8:113702268C>A	uc003ynu.2	-	14	2143	c.1984G>T	c.(1984-1986)GAA>TAA	p.E662*	CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Nonsense_Mutation_p.E622*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.E558*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	662	Extracellular (Potential).|Sushi 3.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCACAACTTTCTTTCTCAATT	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113702268	C	A	113702268	4	1	66	1	0	0	0	0	0	1	0	0	3946	922	32	5	9371	5	CSMD3	8	113702268	Nonsense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	57265586	113702268	32661754	168	48098											
SLC45A4	57210	broad.mit.edu	37	chr8	142228927	142228927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggctcgcccccatccaggGcgccgggctcctcagcgctg	14	19	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr8:142228927G>A	uc003ywd.1	-	4	967	c.659C>T	c.(658-660)GCC>GTC	p.A220V	SLC45A4_uc003ywc.1_Missense_Mutation_p.A220V|SLC45A4_uc010meq.1_Missense_Mutation_p.A218V	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	271					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CCCATCCAGGGCGCCGGGCTC	0.687													A	142228927	G	A	142228927	3	1	66	1	0	0	0	0	1	0	0	0	14643	1203	42	2	1757	2	SLC45A4	8	142228927	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	28526659	142228927	4135095	169	48099											
PLEC	5339	broad.mit.edu	37	chr8	144990986	144990986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaggcccttgttgacggCgtcggtgacagggaagcgct	15	12	0	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr8:144990986C>T	uc003zaf.1	-	32	13584	c.13414G>A	c.(13414-13416)GCC>ACC	p.A4472T	PLEC_uc003zab.1_Missense_Mutation_p.A4335T|PLEC_uc003zac.1_Missense_Mutation_p.A4339T|PLEC_uc003zad.2_Missense_Mutation_p.A4335T|PLEC_uc003zae.1_Missense_Mutation_p.A4303T|PLEC_uc003zag.1_Missense_Mutation_p.A4313T|PLEC_uc003zah.2_Missense_Mutation_p.A4321T|PLEC_uc003zaj.2_Missense_Mutation_p.A4362T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4472	Globular 2.|Plectin 30.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TTGTTGACGGCGTCGGTGACA	0.647													T	144990986	C	T	144990986	3	4	66	1	0	0	0	0	1	0	0	0	12052	768	27	1	644	1	PLEC	8	144990986	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	2762059	144990986	1373036	170	48100											
FOXD4	2298	broad.mit.edu	37	chr9	117070	117070	+	Frame_Shift_Del	DEL	G	G	-													gcttgacggtcgctggagcaGggggcagtagctccacgcgg							TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:117069_117069AG>A	uc003zfz.3	-	0	1349	c.1051_1051CT>T	c.(1051-1053)tgcfs	p.C351fs		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	351					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCGCTGGAGCAGGGGGCAGTA	0.627													-	117070	G	-	117070	7	5	66	1	0	1	0	1	0	0	0	0	5999	987	35	0	273	0	FOXD4	9	117070	Frame_Shift_Del	DEL	G	TCGA-BR-8284-01A-11D-2340-08		117070	141096361	171	48101											
FREM1	158326	broad.mit.edu	37	chr9	14859271	14859271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggccatgggctggcagccGagttctcgcagtgtccaggc	15	13	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:14859271G>A	uc003zlm.2	-	4	1131	c.541C>T	c.(541-543)CGG>TGG	p.R181W	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	181					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		GCTGGCAGCCGAGTTCTCGCA	0.527													A	14859271	G	A	14859271	3	1	66	1	0	0	0	0	1	0	0	0	6044	1057	37	1	6184	1	FREM1	9	14859271	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	14742201	14859271	126354160	172	48102											
MLLT3	4300	broad.mit.edu	37	chr9	20620722	20620722	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaaagtgctgtatgttacTgtgctccggaccgcgtacga	11	11	0	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:20620722T>C	uc003zoe.2	-	2	383	c.124A>G	c.(124-126)AGT>GGT	p.S42G	MLLT3_uc011lne.1_Missense_Mutation_p.S10G|MLLT3_uc011lnf.1_Missense_Mutation_p.S39G|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.S10G	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	42	YEATS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGTATGTTACTGTGCTCCGGA	0.542			T	MLL	ALL								C	20620722	T	C	20620722	3	2	66	1	0	0	0	0	1	0	0	0	9628	1580	55	3	1622	3	MLLT3	9	20620722	Missense_Mutation	SNP	T	TCGA-BR-8284-01A-11D-2340-08	5761451	20620722	120592709	173	48103											
TAF1L	138474	broad.mit.edu	37	chr9	32634323	32634323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtcaccatcaggaagttttCgtcagccagaagatcagtgc	10	10	4	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:32634323C>T	uc003zrg.1	-	1	1345	c.1255G>A	c.(1255-1257)GAA>AAA	p.E419K	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	419					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGGAAGTTTTCGTCAGCCAGA	0.443													T	32634323	C	T	32634323	3	4	66	1	0	0	0	0	1	0	0	0	15520	893	31	1	4229	1	TAF1L	9	32634323	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	12013601	32634323	108579108	174	48104											
FRMPD1	22844	broad.mit.edu	37	chr9	37740286	37740286	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgacagacagtgccgagtcCgaggcgtccgactcagccaa	12	14	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:37740286C>T	uc004aag.1	+	15	1805	c.1761C>T	c.(1759-1761)TCC>TCT	p.S587S	FRMPD1_uc004aah.1_Silent_p.S587S|FRMPD1_uc011lqm.1_Silent_p.S409S|FRMPD1_uc011lqn.1_Silent_p.S456S	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	587						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		GTGCCGAGTCCGAGGCGTCCG	0.637													T	37740286	C	T	37740286	2	4	66	1	0	0	0	0	0	0	0	1	6057	639	23	1		1	FRMPD1	9	37740286	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	5105963	37740286	103473145	175	48105											
NTRK2	4915	broad.mit.edu	37	chr9	87339221	87339221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcagatctcttgtgtggCggaaaatcttgtaggagaag	14	5	2	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:87339221C>T	uc004aoa.1	+	10	1741	c.803C>T	c.(802-804)GCG>GTG	p.A268V	NTRK2_uc004anv.1_Missense_Mutation_p.A268V|NTRK2_uc004any.1_Missense_Mutation_p.A268V|NTRK2_uc004anz.1_Missense_Mutation_p.A268V|NTRK2_uc011lsz.1_Missense_Mutation_p.A268V|NTRK2_uc011lta.1_Missense_Mutation_p.A268V|NTRK2_uc004aob.1_Missense_Mutation_p.A268V|NTRK2_uc011ltb.1_Missense_Mutation_p.A112V	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	268	Extracellular (Potential).|Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						TCTTGTGTGGCGGAAAATCTT	0.408										TSP Lung(25;0.17)			T	87339221	C	T	87339221	3	4	66	1	0	0	0	0	1	0	0	0	10707	768	27	1	829	1	NTRK2	9	87339221	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	49598935	87339221	53874210	176	48106											
NTRK2	4915	broad.mit.edu	37	chr9	87549188	87549188	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctgtcctgagcaggacaAgatcttggtggcagtgaagg	14	9	2	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:87549188A>C	uc004aoa.1	+	16	2635	c.1697A>C	c.(1696-1698)AAG>ACG	p.K566T	NTRK2_uc004any.1_Missense_Mutation_p.K566T|NTRK2_uc004anz.1_Missense_Mutation_p.K582T	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	566	Protein kinase.|Cytoplasmic (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						GAGCAGGACAAGATCTTGGTG	0.403										TSP Lung(25;0.17)			C	87549188	A	C	87549188	3	2	66	1	0	0	0	0	1	0	0	0	10707	72	3	5	1874	5	NTRK2	9	87549188	Missense_Mutation	SNP	A	TCGA-BR-8284-01A-11D-2340-08	209967	87549188	53664243	177	48107											
BICD2	23299	broad.mit.edu	37	chr9	95491364	95491364	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccgactgcgtgttggtgAggacattgcgcaactgcttc	12	11	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:95491364A>G	uc004aso.1	-	2	452	c.395T>C	c.(394-396)CTC>CCC	p.L132P	BICD2_uc004asp.1_Missense_Mutation_p.L132P	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	132	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						CGTGTTGGTGAGGACATTGCG	0.627													G	95491364	A	G	95491364	3	3	66	1	0	0	0	0	1	0	0	0	1429	304	11	3	2206	3	BICD2	9	95491364	Missense_Mutation	SNP	A	TCGA-BR-8284-01A-11D-2340-08	7942176	95491364	45722067	178	48108											
PTCH1	5727	broad.mit.edu	37	chr9	98278952	98278952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcgtctttttcttctcCtccgttttcttcttcttctt	3	14	7	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:98278952C>T	uc004avm.3	-	1	296	c.151G>A	c.(151-153)GGA>AGA	p.G51R	PTCH1_uc010mrr.2_5'UTR|PTCH1_uc004avo.2_5'UTR|PTCH1_uc010mrv.1_RNA|PTCH1_uc010mrw.1_RNA	NM_001083603	NP_001077072	Q13635	PTC1_HUMAN	patched isoform L'	Error:Variant_position_missing_in_Q13635_after_alignment					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ttttcttctcctccgttttct	0.468									Basal_Cell_Nevus_syndrome				T	98278952	C	T	98278952	3	4	66	1	0	0	0	0	1	0	0	0	12730	690	24	4	4493	4	PTCH1	9	98278952	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	2787588	98278952	42934479	179	48109											
NR4A3	8013	broad.mit.edu	37	chr9	102590482	102590482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcacggctacagccaccaCgtccctgcccagcatcagta	8	17	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:102590482C>T	uc004baf.1	+	3	887	c.158C>T	c.(157-159)ACG>ATG	p.T53M	NR4A3_uc004bae.2_Missense_Mutation_p.T53M|NR4A3_uc004bag.1_Missense_Mutation_p.T53M|NR4A3_uc004bai.2_Missense_Mutation_p.T64M	NM_006981	NP_008912	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	53					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		EWSR1/NR4A3(140)|TAF15/NR4A3(33)	bone(173)	173		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ACAGCCACCACGTCCCTGCCC	0.557			T	EWSR1	extraskeletal myxoid chondrosarcoma								T	102590482	C	T	102590482	3	4	66	1	0	0	0	0	1	0	0	0	10634	536	19	1	197	1	NR4A3	9	102590482	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	4311530	102590482	38622949	180	48110											
NIPSNAP3B	55335	broad.mit.edu	37	chr9	107533147	107533147	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taggagtctatgaactagctGtttttcagatgaaacctggt	10	6	2	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:107533147G>T	uc004bci.2	+	4	519	c.448G>T	c.(448-450)GTT>TTT	p.V150F	NIPSNAP3A_uc011lvu.1_Intron|NIPSNAP3B_uc004bcj.1_RNA	NM_018376	NP_060846	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B	150										pancreas(1)|skin(1)	2						TGAACTAGCTGTTTTTCAGAT	0.383													T	107533147	G	T	107533147	3	4	66	1	0	0	0	0	1	0	0	0	10431	1377	48	5	462	5	NIPSNAP3B	9	107533147	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	4942665	107533147	33680284	181	48111											
GAPVD1	26130	broad.mit.edu	37	chr9	128064646	128064646	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttttctgaaggactgttTtctgccaaacttttcctcac	5	11	3	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:128064646T>C	uc010mwx.2	+	5	896	c.570T>C	c.(568-570)TTT>TTC	p.F190F	GAPVD1_uc004bpo.2_Silent_p.F190F|GAPVD1_uc011lzs.1_Silent_p.F190F|GAPVD1_uc004bpp.2_Silent_p.F190F|GAPVD1_uc004bpq.2_Silent_p.F190F|GAPVD1_uc004bpr.2_Silent_p.F190F|GAPVD1_uc004bps.2_Silent_p.F190F|GAPVD1_uc010mwy.1_Silent_p.F49F	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	190	Ras-GAP.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						AAGGACTGTTTTCTGCCAAAC	0.388													C	128064646	T	C	128064646	2	2	66	1	0	0	0	0	0	0	0	1	6239	1838	64	3		3	GAPVD1	9	128064646	Silent	SNP	T	TCGA-BR-8284-01A-11D-2340-08	20531499	128064646	13148785	182	48112											
ANAPC2	29882	broad.mit.edu	37	chr9	140074684	140074684	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagggctgccctgatatcCtcggggacctccagcttctc	10	16	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:140074684C>A	uc004clr.1	-	10	1912	c.1839G>T	c.(1837-1839)GAG>GAT	p.E613D	ANAPC2_uc004clq.1_Missense_Mutation_p.E469D	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	anaphase-promoting complex subunit 2	613					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CCCTGATATCCTCGGGGACCT	0.622													A	140074684	C	A	140074684	3	1	66	1	0	0	0	0	1	0	0	0	603	680	24	5	645	5	ANAPC2	9	140074684	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	12010038	140074684	1138747	183	48113											
MKX	283078	broad.mit.edu	37	chr10	28023608	28023608	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagtcctcactggcccgtgaCtctggcctcactcccgcttt	8	17	3	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr10:28023608C>A	uc001ity.3	-	5	840	c.615G>T	c.(613-615)GAG>GAT	p.E205D	MKX_uc001itx.3_Missense_Mutation_p.E205D	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	mohawk homeobox	205					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TGGCCCGTGACTCTGGCCTCA	0.502													A	28023608	C	A	28023608	3	1	66	1	0	0	0	0	1	0	0	0	9610	564	20	5	455	5	MKX	10	28023608	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08		28023608	107511139	184	48114											
EPC1	80314	broad.mit.edu	37	chr10	32576130	32576130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtctgttggggagtagcagCggcagacgatggtaagactt	16	7	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr10:32576130C>T	uc001iwg.1	-	7	1318	c.1048G>A	c.(1048-1050)GCT>ACT	p.A350T	EPC1_uc001iwi.3_Missense_Mutation_p.A300T|EPC1_uc009xlt.2_Missense_Mutation_p.A300T|EPC1_uc001iwh.1_Missense_Mutation_p.A350T	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	enhancer of polycomb 1	350					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				ovary(3)|central_nervous_system(1)	4		Prostate(175;0.0199)				GGAGTAGCAGCGGCAGACGAT	0.453													T	32576130	C	T	32576130	3	4	66	1	0	0	0	0	1	0	0	0	5160	768	27	1	1498	1	EPC1	10	32576130	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	4552522	32576130	102958617	185	48115											
ARID5B	84159	broad.mit.edu	37	chr10	63851485	63851485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccatcagtgattcagcacGtccagagtttcagaagcaag	11	10	3	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr10:63851485G>A	uc001jlt.1	+	10	2289	c.2263G>A	c.(2263-2265)GTC>ATC	p.V755I		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	755					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					GATTCAGCACGTCCAGAGTTT	0.512													A	63851485	G	A	63851485	3	1	66	1	0	0	0	0	1	0	0	0	922	1145	40	1	2301	1	ARID5B	10	63851485	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	31275355	63851485	71683262	186	48116											
PTEN	5728	broad.mit.edu	37	chr10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccaattcaggacccacaCgacgggaagacaagttcatg	9	13	2	1	rs121909219		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr10:89717672C>T	uc001kfb.2	+	8	1728	c.697C>T	c.(697-699)CGA>TGA	p.R233*		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)|p.G165_K342del(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(JHUEM1_ENDOMETRIUM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(HEC59_ENDOMETRIUM)	31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89717672	C	T	89717672	4	4	66	1	0	0	0	0	0	1	0	0	12738	528	19	1	723	1	PTEN	10	89717672	Nonsense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	25866187	89717672	45817075	187	48117											
PTEN	5728	broad.mit.edu	37	chr10	89717770	89717770	+	Frame_Shift_Del	DEL	A	A	-													cacaaacagaacaagatgctAaaaaaggtttgtactttact					rs121913289		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr10:89717769_89717769TA>T	uc001kfb.3	+	6	1826	c.794_794TA>T	c.(793-795)ctafs	p.L265fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	265	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.M264fs*8(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.D268fs*30(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AACAAGATGCTAAAAAAGGTT	0.348		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89717770	A	-	89717770	7	5	66	1	0	1	0	1	0	0	0	0	12738	349	13	0	821	0	PTEN	10	89717770	Frame_Shift_Del	DEL	A	TCGA-BR-8284-01A-11D-2340-08	98	89717770	45816977	188	48118											
DNTT	1791	broad.mit.edu	37	chr10	98079101	98079101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaaagatctcccagtatgCgtgtcagagaagaaccactt	8	10	2	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr10:98079101C>T	uc001kmf.2	+	3	631	c.461C>T	c.(460-462)GCG>GTG	p.A154V	DNTT_uc001kmg.2_Missense_Mutation_p.A154V	NM_004088	NP_004079	P04053	TDT_HUMAN	terminal deoxynucleotidyltransferase isoform 1	154	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(1)	1		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TCCCAGTATGCGTGTCAGAGA	0.463													T	98079101	C	T	98079101	3	4	66	1	0	0	0	0	1	0	0	0	4680	768	27	1	471	1	DNTT	10	98079101	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	8361331	98079101	37455646	189	48119											
EXOSC1	51013	broad.mit.edu	37	chr10	99196230	99196230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaagaattcgggttgtactCgggctactttccggaattct	11	9	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr10:99196230C>T	uc001kni.2	-	8	586	c.560G>A	c.(559-561)CGA>CAA	p.R187Q	EXOSC1_uc009xvp.1_RNA	NM_016046	NP_057130	Q9Y3B2	EXOS1_HUMAN	exosomal core protein CSL4	187					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	protein binding|RNA binding				0		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		GGGTTGTACTCGGGCTACTTT	0.483													T	99196230	C	T	99196230	3	4	66	1	0	0	0	0	1	0	0	0	5313	884	31	1	31	1	EXOSC1	10	99196230	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	1117129	99196230	36338517	190	48120											
C10orf90	118611	broad.mit.edu	37	chr10	128149986	128149986	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttacttgcaaggtcaaagatCttgcaggcgtttgctgagac	11	8	2	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr10:128149986C>G	uc001ljq.2	-	5	1824	c.1703G>C	c.(1702-1704)AGA>ACA	p.R568T	C10orf90_uc001ljp.2_Missense_Mutation_p.R424T|C10orf90_uc010qum.1_Missense_Mutation_p.R665T|C10orf90_uc001ljo.2_RNA	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	568										ovary(1)|skin(1)	2		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GGTCAAAGATCTTGCAGGCGT	0.587													G	128149986	C	G	128149986	3	3	66	1	0	0	0	0	1	0	0	0	1623	913	32	5	416	5	C10orf90	10	128149986	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	28953756	128149986	7384761	191	48121											
KNDC1	85442	broad.mit.edu	37	chr10	135011860	135011860	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcctgccggtgaacagCgacaccgggcttgtggctgt	15	12	0	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr10:135011860C>T	uc001llz.1	+	13	1927	c.1926C>T	c.(1924-1926)AGC>AGT	p.S642S	KNDC1_uc001lma.1_Silent_p.S577S|KNDC1_uc001lmb.1_Silent_p.S54S	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	642					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CGGTGAACAGCGACACCGGGC	0.726													T	135011860	C	T	135011860	2	4	66	1	0	0	0	0	0	0	0	1	8426	767	27	1		1	KNDC1	10	135011860	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	6861874	135011860	522887	192	48122											
CDHR5	53841	broad.mit.edu	37	chr11	619478	619478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccctgccccgcacctctGcgtagaaggctcccgcctgt	10	19	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:619478G>A	uc001lqj.2	-	11	1394	c.1289C>T	c.(1288-1290)GCA>GTA	p.A430V	CDHR5_uc001lqk.2_Missense_Mutation_p.A430V|CDHR5_uc009ycc.2_Missense_Mutation_p.A264V|CDHR5_uc009ycd.2_Missense_Mutation_p.A430V|CDHR5_uc001lql.2_Missense_Mutation_p.A430V|CDHR5_uc001lqm.2_Missense_Mutation_p.A264V|CDHR5_uc009yce.1_Missense_Mutation_p.A399V	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	430	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						CCGCACCTCTGCGTAGAAGGC	0.607													A	619478	G	A	619478	3	1	66	1	0	0	0	0	1	0	0	0	3122	1319	46	2	1268	2	CDHR5	11	619478	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08		619478	134387038	193	48123											
TRPM5	29850	broad.mit.edu	37	chr11	2432908	2432908	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggggcccagctgcttgtgtAtggcaaagatatggatcagc	14	8	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:2432908A>T	uc001lwm.3	-	17	2573	c.2564T>A	c.(2563-2565)ATA>AAA	p.I855K	TRPM5_uc010qxl.1_Missense_Mutation_p.I855K|TRPM5_uc009ydn.2_Missense_Mutation_p.I857K	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	855	Helical; (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTGCTTGTGTATGGCAAAGAT	0.642													T	2432908	A	T	2432908	3	4	66	1	0	0	0	0	1	0	0	0	16586	449	16	5	965	5	TRPM5	11	2432908	Missense_Mutation	SNP	A	TCGA-BR-8284-01A-11D-2340-08	1813430	2432908	132573608	194	48124											
OR51E1	143503	broad.mit.edu	37	chr11	4674130	4674130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggccatggcttttgaccGctatgtggccatctgtcacc	11	13	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:4674130G>A	uc001lzi.3	+	2	518	c.374G>A	c.(373-375)CGC>CAC	p.R125H		NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|pancreas(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTTTGACCGCTATGTGGCC	0.547													A	4674130	G	A	4674130	3	1	66	1	0	0	0	0	1	0	0	0	11094	1087	38	1	376	1	OR51E1	11	4674130	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	2241222	4674130	130332386	195	48125											
OR52A4	390053	broad.mit.edu	37	chr11	5142343	5142343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaattaccagaatggcagGccgcaatgtcactccaacta	9	11	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:5142343G>A	uc001lzz.1	-	1	466	c.466C>T	c.(466-468)CCT>TCT	p.P156S		NM_001005222	NP_001005222			olfactory receptor, family 52, subfamily A,											ovary(2)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGAATGGCAGGCCGCAATGTC	0.463													A	5142343	G	A	5142343	3	1	66	1	0	0	0	0	1	0	0	0	11109	1203	42	2	452	2	OR52A4	11	5142343	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	468213	5142343	129864173	196	48126											
OR52L1	338751	broad.mit.edu	37	chr11	6008025	6008025	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggatgcccaggggcagtgCaatccagtgctggctttcct	13	11	0	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:6008025C>A	uc001mcd.2	-	1	191	c.136G>T	c.(136-138)GCA>TCA	p.A46S		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	46	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGGCAGTGCAATCCAGTGC	0.488													A	6008025	C	A	6008025	3	1	66	1	0	0	0	0	1	0	0	0	11125	710	25	5	857	5	OR52L1	11	6008025	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	865682	6008025	128998491	197	48127											
NRIP3	56675	broad.mit.edu	37	chr11	9007342	9007342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccactactttgagatgccGgggtagagaaagcttttctc	11	10	1	2	rs61756060	byFrequency	TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:9007342G>A	uc001mhg.2	-	4	592	c.478C>T	c.(478-480)CGG>TGG	p.R160W	NRIP3_uc010rbu.1_Intron	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	160					proteolysis		aspartic-type endopeptidase activity				0				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		TTGAGATGCCGGGGTAGAGAA	0.512													A	9007342	G	A	9007342	3	1	66	1	0	0	0	0	1	0	0	0	10654	1115	39	1	263	1	NRIP3	11	9007342	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	2999317	9007342	125999174	198	48128											
SCUBE2	57758	broad.mit.edu	37	chr11	9082038	9082038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaagtatccttacaggtgCggtcacagcctccattgttg	10	11	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:9082038C>T	uc001mhh.1	-	8	964	c.884G>A	c.(883-885)CGC>CAC	p.R295H	SCUBE2_uc001mhi.1_Missense_Mutation_p.R295H|SCUBE2_uc001mhj.1_Missense_Mutation_p.R295H	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	295	EGF-like 6 (Potential).					extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CTTACAGGTGCGGTCACAGCC	0.498													T	9082038	C	T	9082038	3	4	66	1	0	0	0	0	1	0	0	0	13945	768	27	1	2266	1	SCUBE2	11	9082038	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	74696	9082038	125924478	199	48129											
AMPD3	272	broad.mit.edu	37	chr11	10526171	10526171	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgacctgtgtgagatcgccAggaacagcgtgctgcagagc	15	11	0	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:10526171A>G	uc001mio.1	+	14	2427	c.2092A>G	c.(2092-2094)AGG>GGG	p.R698G	AMPD3_uc010rbz.1_Missense_Mutation_p.R539G|AMPD3_uc001min.1_Missense_Mutation_p.R707G|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.R705G|AMPD3_uc009yfy.2_Missense_Mutation_p.R698G	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	698					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGAGATCGCCAGGAACAGCGT	0.512													G	10526171	A	G	10526171	3	3	66	1	0	0	0	0	1	0	0	0	587	179	7	3	2193	3	AMPD3	11	10526171	Missense_Mutation	SNP	A	TCGA-BR-8284-01A-11D-2340-08	1444133	10526171	124480345	200	48130											
SOX6	55553	broad.mit.edu	37	chr11	16007846	16007846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccatcaacaatgcaggtgCgtttcggtcggggtttgtat	13	8	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:16007846C>T	uc001mme.2	-	15	2159	c.2126G>A	c.(2125-2127)CGC>CAC	p.R709H	SOX6_uc001mmd.2_Missense_Mutation_p.R672H|SOX6_uc001mmf.2_Missense_Mutation_p.R669H|SOX6_uc001mmg.2_Missense_Mutation_p.R676H	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	696					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						AATGCAGGTGCGTTTCGGTCG	0.473													T	16007846	C	T	16007846	3	4	66	1	0	0	0	0	1	0	0	0	14955	768	27	1	407	1	SOX6	11	16007846	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	5481675	16007846	118998670	201	48131											
UEVLD	55293	broad.mit.edu	37	chr11	18579822	18579822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagatttcaaggtccatcGtggctcctttagtcccttct	8	11	2	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:18579822G>A	uc001mot.2	-	7	748	c.668C>T	c.(667-669)ACG>ATG	p.T223M	UEVLD_uc001mou.2_Missense_Mutation_p.T223M|UEVLD_uc010rde.1_Missense_Mutation_p.T93M|UEVLD_uc010rdf.1_Missense_Mutation_p.T201M|UEVLD_uc010rdg.1_Missense_Mutation_p.T93M|UEVLD_uc001mov.2_Missense_Mutation_p.T201M	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN	ubiquitin-conjugating enzyme E2-like isoform a	223					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor				0						AAGGTCCATCGTGGCTCCTTT	0.408													A	18579822	G	A	18579822	3	1	66	1	0	0	0	0	1	0	0	0	16930	1145	40	1	771	1	UEVLD	11	18579822	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	2571976	18579822	116426694	202	48132											
SPTY2D1	144108	broad.mit.edu	37	chr11	18636447	18636447	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggccacgagagctgcccaaGggtcttgcagaactaactga	13	11	1	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:18636447G>T	uc001moy.2	-	3	1590	c.1374C>A	c.(1372-1374)CCC>CCA	p.P458P	SPTY2D1_uc010rdi.1_Silent_p.P458P	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	458	Ser-rich.									breast(1)	1						AGCTGCCCAAGGGTCTTGCAG	0.637													T	18636447	G	T	18636447	2	4	66	1	0	0	0	0	0	0	0	1	15125	987	35	5		5	SPTY2D1	11	18636447	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	56625	18636447	116370069	203	48133											
HTATIP2	10553	broad.mit.edu	37	chr11	20398124	20398124	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgtccttttcccccttAggagggatttgttcgtgttg	10	10	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:20398124A>G	uc009yia.1	+	4	370	c.304_splice	c.e4-2	p.E102_splice	HTATIP2_uc009yib.1_Splice_Site_p.E102_splice|HTATIP2_uc001mpx.2_Splice_Site_p.E136_splice|HTATIP2_uc001mpz.2_Splice_Site_p.E102_splice	NM_006410	NP_006401	Q9BUP3	HTAI2_HUMAN	HIV-1 Tat interactive protein 2, 30kDa isoform						angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity				0						TTTCCCCCTTAGGAGGGATTT	0.458													G	20398124	A	G	20398124	5	3	66	1	0	0	0	0	0	0	1	0	7432	434	15	3	517	3	HTATIP2	11	20398124	Splice_Site	SNP	A	TCGA-BR-8284-01A-11D-2340-08	1761677	20398124	114608392	204	48134											
KCNA4	3739	broad.mit.edu	37	chr11	30033696	30033696	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgacacatttatcaccacaCgttcacaacagtcactgtag	5	13	3	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:30033696C>A	uc001msk.2	-	2	1682	c.530G>T	c.(529-531)CGT>CTT	p.R177L		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	177						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TATCACCACACGTTCACAACA	0.517													A	30033696	C	A	30033696	3	1	66	1	0	0	0	0	1	0	0	0	8005	536	19	5	1435	5	KCNA4	11	30033696	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	9635572	30033696	104972820	205	48135											
LMO2	4005	broad.mit.edu	37	chr11	33880991	33880991	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggtatctgtcacctacacAgaaatgcttctgacaggcgg	11	10	3	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:33880991A>C	uc001mve.2	-	3	827	c.388T>G	c.(388-390)TGT>GGT	p.C130G	LMO2_uc001mvc.2_Missense_Mutation_p.C123G|LMO2_uc001mvd.2_Missense_Mutation_p.C123G|LMO2_uc010rel.1_Missense_Mutation_p.C130G|LMO2_uc010rem.1_Missense_Mutation_p.C199G	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN	LIM domain only 2 isoform 2	130	LIM zinc-binding 2.				multicellular organismal development	nucleus	protein binding|zinc ion binding			lung(1)	1						TCACCTACACAGAAATGCTTC	0.483			T	TRD@	T-ALL								C	33880991	A	C	33880991	3	2	66	1	0	0	0	0	1	0	0	0	8852	188	7	5	92	5	LMO2	11	33880991	Missense_Mutation	SNP	A	TCGA-BR-8284-01A-11D-2340-08	3847295	33880991	101125525	206	48136											
EXT2	2132	broad.mit.edu	37	chr11	44129759	44129759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttaaccagaacacactgcGcatcaaggagacagcacaag	9	12	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:44129759G>A	uc001mxz.2	+	2	831	c.497G>A	c.(496-498)CGC>CAC	p.R166H	EXT2_uc010rfo.1_Missense_Mutation_p.R194H|EXT2_uc001mxy.2_Missense_Mutation_p.R179H|EXT2_uc009ykt.2_Missense_Mutation_p.R166H|EXT2_uc001mya.2_Missense_Mutation_p.R199H	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	166	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			lung(2)|breast(2)|skin(1)	5						AACACACTGCGCATCAAGGAG	0.532			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses				A	44129759	G	A	44129759	3	1	66	1	0	0	0	0	1	0	0	0	5324	1087	38	1	602	1	EXT2	11	44129759	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	10248768	44129759	90876757	207	48137											
CHST1	8534	broad.mit.edu	37	chr11	45672345	45672345	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcctcgcacagtcgctcGgccagcccggcctctgccag	10	20	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:45672345G>A	uc001mys.1	-	4	800	c.129C>T	c.(127-129)GCC>GCT	p.A43A		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	43	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		ACAGTCGCTCGGCCAGCCCGG	0.662													A	45672345	G	A	45672345	2	1	66	1	0	0	0	0	0	0	0	1	3397	1103	39	1		1	CHST1	11	45672345	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	1542586	45672345	89334171	208	48138											
FOLH1	2346	broad.mit.edu	37	chr11	49208318	49208318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atagttaacatacactagatCgccctgttgagatcgggaat	9	8	0	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:49208318C>T	uc001ngy.2	-	5	778	c.517G>A	c.(517-519)GAT>AAT	p.D173N	FOLH1_uc001ngz.2_Missense_Mutation_p.D173N|FOLH1_uc009yly.2_Missense_Mutation_p.D158N|FOLH1_uc009ylz.2_Missense_Mutation_p.D158N|FOLH1_uc009yma.2_5'UTR	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	173	Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TACACTAGATCGCCCTGTTGA	0.393													T	49208318	C	T	49208318	3	4	66	1	0	0	0	0	1	0	0	0	5979	884	31	1	1795	1	FOLH1	11	49208318	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	3535973	49208318	85798198	209	48139											
OR5M3	219482	broad.mit.edu	37	chr11	56237824	56237824	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggggttgttaagctgaggActgaccttgattaacaccat	11	7	0	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:56237824A>G	uc010rjk.1	-	1	150	c.150T>C	c.(148-150)AGT>AGC	p.S50S		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	50	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TAAGCTGAGGACTGACCTTGA	0.433													G	56237824	A	G	56237824	2	3	66	1	0	0	0	0	0	0	0	1	11175	272	10	3		3	OR5M3	11	56237824	Silent	SNP	A	TCGA-BR-8284-01A-11D-2340-08	7029506	56237824	78768692	210	48140											
CTNND1	1500	broad.mit.edu	37	chr11	57577664	57577664	+	Frame_Shift_Del	DEL	A	A	-													ggaactgcggaagccactggAaaaagaaggatggaagaaat							TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:57577663_57577663GA>G	uc001nmc.4	+	15	3089	c.2518_2518GA>G	c.(2518-2520)gaafs	p.E840fs	CTNND1_uc001nlf.2_Frame_Shift_Del_p.E840fs|CTNND1_uc021qjk.1_Frame_Shift_Del_p.E834fs|CTNND1_uc001nlh.1_Frame_Shift_Del_p.E840fs|CTNND1_uc001nlj.4_Frame_Shift_Del_p.E780fs|CTNND1_uc001nlq.4_Frame_Shift_Del_p.E739fs|CTNND1_uc001nlr.4_Frame_Shift_Del_p.E780fs|CTNND1_uc001nln.4_Frame_Shift_Del_p.E834fs|CTNND1_uc001nli.4_Frame_Shift_Del_p.E834fs|CTNND1_uc001nlo.4_Frame_Shift_Del_p.E733fs|CTNND1_uc001nlp.4_Frame_Shift_Del_p.E780fs|CTNND1_uc001nlu.4_Frame_Shift_Del_p.E733fs|CTNND1_uc001nlt.4_Frame_Shift_Del_p.E733fs|CTNND1_uc001nlv.4_Frame_Shift_Del_p.E733fs|CTNND1_uc001nls.4_Frame_Shift_Del_p.E733fs|CTNND1_uc001nlw.4_Frame_Shift_Del_p.E733fs|CTNND1_uc001nmf.4_Frame_Shift_Del_p.E840fs|CTNND1_uc001nlx.4_Frame_Shift_Del_p.E517fs|CTNND1_uc001nlz.4_Frame_Shift_Del_p.E517fs|CTNND1_uc009ymn.3_Frame_Shift_Del_p.E511fs|CTNND1_uc001nly.4_Frame_Shift_Del_p.E511fs|CTNND1_uc001nmb.4_Frame_Shift_Del_p.E511fs|CTNND1_uc001nma.4_Frame_Shift_Del_p.E511fs|CTNND1_uc001nmd.4_Frame_Shift_Del_p.E786fs|CTNND1_uc001nlk.4_Frame_Shift_Del_p.E786fs|CTNND1_uc001nme.4_Frame_Shift_Del_p.E834fs|CTNND1_uc001nll.4_Frame_Shift_Del_p.E780fs|CTNND1_uc001nlm.4_Frame_Shift_Del_p.E834fs|CTNND1_uc001nmi.4_Frame_Shift_Del_p.E739fs|CTNND1_uc001nmg.4_Frame_Shift_Del_p.E780fs|CTNND1_uc001nmh.4_Frame_Shift_Del_p.E834fs	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	840					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GAAGCCACTGGAAAAAGAAGG	0.398													-	57577664	A	-	57577664	7	5	66	1	0	1	0	1	0	0	0	0	4019	246	9	0	2573	0	CTNND1	11	57577664	Frame_Shift_Del	DEL	A	TCGA-BR-8284-01A-11D-2340-08	1339840	57577664	77428852	211	48141											
MEN1	4221	broad.mit.edu	37	chr11	64572229	64572229	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgggcttcctcgccccaCggctcctcggcctcggccgc	11	22	0	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:64572229C>T	uc001obj.2	-	10	1498	c.1425G>A	c.(1423-1425)CCG>CCA	p.P475P	MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Silent_p.P475P|MEN1_uc001obl.2_Silent_p.P435P|MEN1_uc001obm.2_Silent_p.P470P|MEN1_uc001obn.2_Silent_p.P475P|MEN1_uc001obo.2_Silent_p.P475P|MEN1_uc001obp.2_Silent_p.P470P|MEN1_uc001obq.2_Silent_p.P475P|MEN1_uc001obr.2_Silent_p.P475P	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	475					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						CCTCGCCCCACGGCTCCTCGG	0.731			D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1				T	64572229	C	T	64572229	2	4	66	1	0	0	0	0	0	0	0	1	9472	523	19	1		1	MEN1	11	64572229	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	6994565	64572229	70434287	212	48142											
MYO7A	4647	broad.mit.edu	37	chr11	76900480	76900480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattctcgtgtctctctgcGtgggctgtttcgccccctcc	11	15	3	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:76900480G>A	uc001oyb.2	+	28	3867	c.3595G>A	c.(3595-3597)GTG>ATG	p.V1199M	MYO7A_uc010rsm.1_Missense_Mutation_p.V1188M|MYO7A_uc001oyc.2_Missense_Mutation_p.V1199M|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.V410M	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1199	MyTH4 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						GTCTCTCTGCGTGGGCTGTTT	0.622													A	76900480	G	A	76900480	3	1	66	1	0	0	0	0	1	0	0	0	10082	1145	40	1	3735	1	MYO7A	11	76900480	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	12328251	76900480	58106036	213	48143											
PDGFD	80310	broad.mit.edu	37	chr11	103866942	103866942	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctaataatggtactggtttCggatatatcttcaacttcca	6	8	3	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:103866942C>A	uc001phq.2	-	3	733	c.361G>T	c.(361-363)GAA>TAA	p.E121*	PDGFD_uc001php.2_Nonsense_Mutation_p.E115*	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	121	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GTACTGGTTTCGGATATATCT	0.343													A	103866942	C	A	103866942	4	1	66	1	0	0	0	0	0	1	0	0	11660	893	31	5	771	5	PDGFD	11	103866942	Nonsense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	26966462	103866942	31139574	214	48144											
DDI1	414301	broad.mit.edu	37	chr11	103908214	103908214	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagaggaaatccggcagcaaAacattgaagaaaacatgaat	9	6	0	4			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:103908214A>T	uc001phr.2	+	1	907	c.664A>T	c.(664-666)AAC>TAC	p.N222Y	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	222					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCGGCAGCAAAACATTGAAGA	0.478													T	103908214	A	T	103908214	3	4	66	1	0	0	0	0	1	0	0	0	4328	14	1	5	666	5	DDI1	11	103908214	Missense_Mutation	SNP	A	TCGA-BR-8284-01A-11D-2340-08	41272	103908214	31098302	215	48145											
ANKK1	255239	broad.mit.edu	37	chr11	113268051	113268051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgcaagctgtcgctgcGccagcccggggaggtgagtg	17	12	0	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:113268051G>A	uc001pny.2	+	6	1038	c.944G>A	c.(943-945)CGC>CAC	p.R315H		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	315							ATP binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|ovary(1)|breast(1)	8		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CTGTCGCTGCGCCAGCCCGGG	0.607													A	113268051	G	A	113268051	3	1	66	1	0	0	0	0	1	0	0	0	631	1087	38	1	966	1	ANKK1	11	113268051	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	9359837	113268051	21738465	216	48146											
BACE1	23621	broad.mit.edu	37	chr11	117161234	117161234	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgacagcaaagccaattcGttttcgggcccgatcaaaga	10	11	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:117161234G>A	uc001pqz.2	-	8	1695	c.1234C>T	c.(1234-1236)CGA>TGA	p.R412*	BACE1_uc001pqw.2_Nonsense_Mutation_p.R387*|BACE1_uc001pqx.2_Nonsense_Mutation_p.R343*|BACE1_uc001pqy.2_Nonsense_Mutation_p.R368*|BACE1_uc010rxg.1_Nonsense_Mutation_p.R287*|BACE1_uc010rxh.1_Nonsense_Mutation_p.R312*|BACE1_uc009yzo.1_Silent_p.N79N|uc010rxi.1_5'Flank	NM_012104	NP_036236	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1 isoform A	412	Extracellular (Potential).				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			ovary(1)	1	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		AAGCCAATTCGTTTTCGGGCC	0.498													A	117161234	G	A	117161234	4	1	66	1	0	0	0	0	0	1	0	0	1281	1153	40	1	279	1	BACE1	11	117161234	Nonsense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	3893183	117161234	17845282	217	48147											
IL10RA	3587	broad.mit.edu	37	chr11	117860290	117860290	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggctgtggacggcagccggCactccaactggaccgtcacc	14	15	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:117860290C>A	uc001prv.2	+	3	399	c.322C>A	c.(322-324)CAC>AAC	p.H108N	IL10RA_uc010rxl.1_Missense_Mutation_p.H88N|IL10RA_uc010rxm.1_Missense_Mutation_p.H88N|IL10RA_uc010rxn.1_Intron|IL10RA_uc001prw.2_5'UTR	NM_001558	NP_001549	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha precursor	108	Extracellular (Potential).					integral to membrane|plasma membrane	interleukin-10 receptor activity			ovary(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CGGCAGCCGGCACTCCAACTG	0.582													A	117860290	C	A	117860290	3	1	66	1	0	0	0	0	1	0	0	0	7620	710	25	5	332	5	IL10RA	11	117860290	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	699056	117860290	17146226	218	48148											
NLRX1	79671	broad.mit.edu	37	chr11	119044381	119044381	+	Frame_Shift_Del	DEL	C	C	-													cagccaccccaggccgggctCcccccactggccttgtctca							TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:119044380_119044380TC>T	uc001pvu.3	+	4	637	c.422_422TC>T	c.(421-423)ctcfs	p.L141fs	NLRX1_uc010rzc.1_5'UTR|NLRX1_uc001pvv.3_Frame_Shift_Del_p.L141fs|NLRX1_uc001pvw.3_Frame_Shift_Del_p.L141fs|NLRX1_uc001pvx.3_Frame_Shift_Del_p.L141fs	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	141	Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CAGGCCGGGCTCCCCCCACTG	0.657													-	119044381	C	-	119044381	7	5	66	1	0	1	0	1	0	0	0	0	10485	842	30	0	437	0	NLRX1	11	119044381	Frame_Shift_Del	DEL	C	TCGA-BR-8284-01A-11D-2340-08	1184091	119044381	15962135	219	48149											
ROBO3	64221	broad.mit.edu	37	chr11	124747173	124747173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttccccagtgtccttcccGcactcagagggcctctctgg	9	16	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:124747173G>A	uc001qbc.2	+	19	3006	c.2814G>A	c.(2812-2814)CCG>CCA	p.P938P	ROBO3_uc010saq.1_5'UTR|ROBO3_uc001qbd.2_5'UTR|ROBO3_uc010sar.1_Intron|ROBO3_uc001qbe.2_Intron|ROBO3_uc001qbf.1_5'Flank	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	938	Cytoplasmic (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGTCCTTCCCGCACTCAGAGG	0.612													A	124747173	G	A	124747173	2	1	66	1	0	0	0	0	0	0	0	1	13515	1074	38	1		1	ROBO3	11	124747173	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	5702792	124747173	10259343	220	48150											
C1S	716	broad.mit.edu	37	chr12	7177276	7177276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacccatgggctggtggagCgctcattaatgagtactggg	14	9	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:7177276C>T	uc001qsj.2	+	15	2107	c.1388C>T	c.(1387-1389)GCG>GTG	p.A463V	C1S_uc001qsk.2_Missense_Mutation_p.A463V|C1S_uc001qsl.2_Missense_Mutation_p.A463V|C1S_uc009zfr.2_Missense_Mutation_p.A296V|C1S_uc009zfs.2_RNA	NM_201442	NP_958850	P09871	C1S_HUMAN	complement component 1, s subcomponent	463	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			skin(1)	1					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GCTGGTGGAGCGCTCATTAAT	0.498													T	7177276	C	T	7177276	3	4	66	1	0	0	0	0	1	0	0	0	1974	768	27	1	1430	1	C1S	12	7177276	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08		7177276	126674619	221	48151											
CD163	9332	broad.mit.edu	37	chr12	7640606	7640606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccgaatcacagatggagcCccacgtgtcaccatgcttca	9	14	3	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:7640606C>T	uc001qsz.3	-	7	1626	c.1498G>A	c.(1498-1500)GGC>AGC	p.G500S	CD163_uc001qta.3_Missense_Mutation_p.G500S|CD163_uc009zfw.2_Missense_Mutation_p.G500S	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	500	SRCR 5.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						CAGATGGAGCCCCACGTGTCA	0.507													T	7640606	C	T	7640606	3	4	66	1	0	0	0	0	1	0	0	0	2967	623	22	4	2012	4	CD163	12	7640606	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	463330	7640606	126211289	222	48152											
FAM90A1	55138	broad.mit.edu	37	chr12	8374624	8374624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgtccgttttccagtctccGaaagagcactctgagaggct	11	12	2	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:8374624G>A	uc001qui.2	-	7	1748	c.1189C>T	c.(1189-1191)CGG>TGG	p.R397W	FAM90A1_uc001quh.2_Missense_Mutation_p.R397W	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	hypothetical protein LOC55138	397							nucleic acid binding|zinc ion binding			ovary(1)	1				Kidney(36;0.0866)		TCCAGTCTCCGAAAGAGCACT	0.632													A	8374624	G	A	8374624	3	1	66	1	0	0	0	0	1	0	0	0	5650	1057	37	1	209	1	FAM90A1	12	8374624	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	734018	8374624	125477271	223	48153											
FGD4	121512	broad.mit.edu	37	chr12	32755181	32755181	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatgtgaaaggatttgataAtgcaatggaattggttaaaa	10	1	0	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:32755181A>G	uc001rkz.2	+	7	1400	c.923A>G	c.(922-924)AAT>AGT	p.N308S	FGD4_uc001rlc.2_Missense_Mutation_p.N393S|FGD4_uc001rky.2_Missense_Mutation_p.N60S|FGD4_uc001rla.2_5'UTR|FGD4_uc010ske.1_Missense_Mutation_p.N420S|FGD4_uc001rlb.1_RNA	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	308	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GGATTTGATAATGCAATGGAA	0.353													G	32755181	A	G	32755181	3	3	66	1	0	0	0	0	1	0	0	0	5835	101	4	3	941	3	FGD4	12	32755181	Missense_Mutation	SNP	A	TCGA-BR-8284-01A-11D-2340-08	24380557	32755181	101096714	224	48154											
SYT10	341359	broad.mit.edu	37	chr12	33529822	33529822	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttgactatcaaaactggtCgcccggccaggtaactgaaa	9	12	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:33529822C>T	uc001rll.1	-	7	1812	c.1515G>A	c.(1513-1515)GCG>GCA	p.A505A	SYT10_uc009zju.1_Silent_p.A315A	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	505	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CAAAACTGGTCGCCCGGCCAG	0.403													T	33529822	C	T	33529822	2	4	66	1	0	0	0	0	0	0	0	1	15463	871	31	1		1	SYT10	12	33529822	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	774641	33529822	100322073	225	48155											
ALG10B	144245	broad.mit.edu	37	chr12	38714359	38714359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttttctgtttgacttggCcctacatccttctgggattt	8	10	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:38714359C>T	uc001rln.3	+	3	905	c.766C>T	c.(766-768)CCC>TCC	p.P256S	ALG10B_uc001rlo.3_Missense_Mutation_p.P226S|ALG10B_uc010skk.1_Missense_Mutation_p.P196S	NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	asparagine-linked glycosylation 10 homolog B	256	Cytoplasmic (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			ovary(2)|skin(1)	3	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTTGACTTGGCCCTACATCCT	0.368													T	38714359	C	T	38714359	3	4	66	1	0	0	0	0	1	0	0	0	512	739	26	2	776	2	ALG10B	12	38714359	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	5184537	38714359	95137536	226	48156											
KRT81	3887	broad.mit.edu	37	chr12	52681893	52681893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtccagcttgacaaccaCggaggtgtctgagatgtgcg	14	9	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:52681893C>T	uc001sab.2	-	5	825	c.775G>A	c.(775-777)GTG>ATG	p.V259M	KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_Intron	NM_002281	NP_002272	Q14533	KRT81_HUMAN	keratin, hair, basic, 1	259	Linker 12.|Rod.					keratin filament	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGACAACCACGGAGGTGTCT	0.557													T	52681893	C	T	52681893	3	4	66	1	0	0	0	0	1	0	0	0	8495	536	19	1	762	1	KRT81	12	52681893	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	13967534	52681893	81170002	227	48157											
KRT84	3890	broad.mit.edu	37	chr12	52776281	52776281	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggtatccacgttggcctcGagatcagacttgttcatgaa	11	9	2	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:52776281G>A	uc001sah.1	-	4	900	c.852C>T	c.(850-852)CTC>CTT	p.L284L		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	284	Rod.|Coil 1B.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CGTTGGCCTCGAGATCAGACT	0.458													A	52776281	G	A	52776281	2	1	66	1	0	0	0	0	0	0	0	1	8498	1045	37	1		1	KRT84	12	52776281	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	94388	52776281	81075614	228	48158											
IRAK3	11213	broad.mit.edu	37	chr12	66641720	66641720	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttatgtttctgagcttggaCaaaaagccagagagcaagag	12	6	1	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:66641720C>T	uc001sth.2	+	12	1662	c.1560C>T	c.(1558-1560)GAC>GAT	p.D520D	IRAK3_uc010ssy.1_Silent_p.D459D	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	520					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8				GBM - Glioblastoma multiforme(28;0.0203)		TGAGCTTGGACAAAAAGCCAG	0.428													T	66641720	C	T	66641720	2	4	66	1	0	0	0	0	0	0	0	1	7824	477	17	4		4	IRAK3	12	66641720	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	13865439	66641720	67210175	229	48159											
TMCC3	57458	broad.mit.edu	37	chr12	94976111	94976111	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcactagtttcagatactcCgcaacattcccatcgcgcga	6	14	2	1	rs140629808	byFrequency	TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:94976111C>T	uc001tdj.2	-	2	400	c.282G>A	c.(280-282)GCG>GCA	p.A94A	TMCC3_uc001tdi.2_Silent_p.A63A	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	94						integral to membrane				ovary(1)|skin(1)	2						TCAGATACTCCGCAACATTCC	0.458													T	94976111	C	T	94976111	2	4	66	1	0	0	0	0	0	0	0	1	15991	639	23	1		1	TMCC3	12	94976111	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	28334391	94976111	38875784	230	48160											
UTP20	27340	broad.mit.edu	37	chr12	101720872	101720872	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcagaattttgtatgggCgaatgaagaataagactggg	12	3	1	4			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:101720872C>T	uc001tia.1	+	26	3211	c.3055C>T	c.(3055-3057)CGA>TGA	p.R1019*		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	1019					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						TTTGTATGGGCGAATGAAGAA	0.433													T	101720872	C	T	101720872	4	4	66	1	0	0	0	0	0	1	0	0	17096	760	27	1	3157	1	UTP20	12	101720872	Nonsense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	6744761	101720872	32131023	231	48161											
CCDC60	160777	broad.mit.edu	37	chr12	119954458	119954458	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggagatggttcgggAagatgcccggaggacagtca	16	9	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:119954458A>G	uc001txe.2	+	8	1379	c.914A>G	c.(913-915)GAA>GGA	p.E305G	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	305										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ATGGTTCGGGAAGATGCCCGG	0.493													G	119954458	A	G	119954458	3	3	66	1	0	0	0	0	1	0	0	0	2831	246	9	3	944	3	CCDC60	12	119954458	Missense_Mutation	SNP	A	TCGA-BR-8284-01A-11D-2340-08	18233586	119954458	13897437	232	48162											
CLIP1	6249	broad.mit.edu	37	chr12	122825399	122825399	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatttccgatttaccttcGgaactggctttccgaagtgc	8	11	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:122825399G>A	uc001ucg.1	-	10	2458	c.2352C>T	c.(2350-2352)TCC>TCT	p.S784S	CLIP1_uc001uch.1_Silent_p.S773S|CLIP1_uc001uci.1_Silent_p.S738S|CLIP1_uc001ucj.1_Intron	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	784	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ATTTACCTTCGGAACTGGCTT	0.388													A	122825399	G	A	122825399	2	1	66	1	0	0	0	0	0	0	0	1	3532	1103	39	1		1	CLIP1	12	122825399	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	2870941	122825399	11026496	233	48163											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124209219	124209219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagcagttgcagaagctcGaggttgaactgagagaagtc	15	6	0	4	rs146676679		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:124209219G>A	uc001ufr.2	+	4	561	c.313G>A	c.(313-315)GAG>AAG	p.E105K	ATP6V0A2_uc001ufq.1_Missense_Mutation_p.E105K	NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	105	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GCAGAAGCTCGAGGTTGAACT	0.388													A	124209219	G	A	124209219	3	1	66	1	0	0	0	0	1	0	0	0	1169	1059	37	1	327	1	ATP6V0A2	12	124209219	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	1383820	124209219	9642676	234	48164											
P2RX2	22953	broad.mit.edu	37	chr12	133196038	133196038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgcaggtacgtattcatcGtgcagaaaagctaccaggag	11	11	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:133196038G>A	uc001ukj.1	+	2	187	c.187G>A	c.(187-189)GTG>ATG	p.V63M	P2RX2_uc001uki.1_Missense_Mutation_p.V63M|P2RX2_uc001ukk.1_Missense_Mutation_p.V63M|P2RX2_uc001ukl.1_Missense_Mutation_p.V63M|P2RX2_uc001ukm.1_Missense_Mutation_p.R40H|P2RX2_uc001ukn.1_Intron|P2RX2_uc009zyt.1_Missense_Mutation_p.V63M|P2RX2_uc001uko.1_Missense_Mutation_p.V63M	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X2 isoform A	63	Helical; Name=1; (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CGTATTCATCGTGCAGAAAAG	0.677													A	133196038	G	A	133196038	3	1	66	1	0	0	0	0	1	0	0	0	11340	1145	40	1	193	1	P2RX2	12	133196038	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	8986819	133196038	655857	235	48165											
POLE	5426	broad.mit.edu	37	chr12	133237570	133237570	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaccttgctgtacagcacGtccagccagtagtcagccac	8	14	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:133237570G>A	uc001uks.1	-	25	3089	c.3045C>T	c.(3043-3045)GAC>GAT	p.D1015D	POLE_uc001ukr.1_5'Flank|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Silent_p.D988D	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1015					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGTACAGCACGTCCAGCCAGT	0.567								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	133237570	G	A	133237570	2	1	66	1	0	0	0	0	0	0	0	1	12196	1136	40	1		1	POLE	12	133237570	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	41532	133237570	614325	236	48166											
DCLK1	9201	broad.mit.edu	37	chr13	36686031	36686031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccatccaacgtgtacaggCgtttcaccactcccgagtcc	7	17	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr13:36686031C>T	uc001uvf.2	-	3	931	c.698G>A	c.(697-699)CGC>CAC	p.R233H		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	233	Doublecortin 2.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CGTGTACAGGCGTTTCACCAC	0.502													T	36686031	C	T	36686031	3	4	66	1	0	0	0	0	1	0	0	0	4291	768	27	1	1555	1	DCLK1	13	36686031	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08		36686031	78483847	237	48167											
PCDH9	5101	broad.mit.edu	37	chr13	67801710	67801710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggcaccaaaaatgtacCggatttcagcattactgcct	8	12	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr13:67801710C>T	uc001vik.2	-	2	1555	c.863G>A	c.(862-864)CGG>CAG	p.R288Q	PCDH9_uc001vil.2_Missense_Mutation_p.R288Q|PCDH9_uc010thl.1_Missense_Mutation_p.R288Q|PCDH9_uc001vin.3_Missense_Mutation_p.R288Q	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	288	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AAAAATGTACCGGATTTCAGC	0.463													T	67801710	C	T	67801710	3	4	66	1	0	0	0	0	1	0	0	0	11518	652	23	1	2866	1	PCDH9	13	67801710	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	31115679	67801710	47368168	238	48168											
NALCN	259232	broad.mit.edu	37	chr13	101712255	101712255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggcgggttcagaaacCggctcagctcttgctgctga	14	11	3	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr13:101712255C>T	uc001vox.1	-	42	5009	c.4820G>A	c.(4819-4821)CGG>CAG	p.R1607Q		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1607	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTTCAGAAACCGGCTCAGCTC	0.532													T	101712255	C	T	101712255	3	4	66	1	0	0	0	0	1	0	0	0	10148	652	23	1	408	1	NALCN	13	101712255	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	33910545	101712255	13457623	239	48169											
COL4A2	1284	broad.mit.edu	37	chr13	111082904	111082904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccatagggacctcccggcCgccctgggcatgtgggacag	14	14	0	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr13:111082904C>T	uc001vqx.2	+	10	887	c.598C>T	c.(598-600)CGC>TGC	p.R200C		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	200	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			ACCTCCCGGCCGCCCTGGGCA	0.537													T	111082904	C	T	111082904	3	4	66	1	0	0	0	0	1	0	0	0	3690	652	23	1	632	1	COL4A2	13	111082904	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	9370649	111082904	4086974	240	48170											
OR4K5	79317	broad.mit.edu	37	chr14	20389116	20389116	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagatggtgctacttgtttcGatggcctatgacaggtatgt	13	6	0	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr14:20389116G>A	uc010tkw.1	+	1	351	c.351G>A	c.(349-351)TCG>TCA	p.S117S		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACTTGTTTCGATGGCCTATG	0.448													A	20389116	G	A	20389116	2	1	66	1	0	0	0	0	0	0	0	1	11073	1045	37	1		1	OR4K5	14	20389116	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08		20389116	86960424	241	48171											
OR11H4	390442	broad.mit.edu	37	chr14	20711877	20711877	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtaataaggacatgaaactCgctctgagaaatgtcctgtt	9	8	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr14:20711877C>T	uc010tld.1	+	1	927	c.927C>T	c.(925-927)CTC>CTT	p.L309L		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H,	309	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ACATGAAACTCGCTCTGAGAA	0.393													T	20711877	C	T	20711877	2	4	66	1	0	0	0	0	0	0	0	1	10928	871	31	1		1	OR11H4	14	20711877	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	322761	20711877	86637663	242	48172											
FLJ10357	55701	broad.mit.edu	37	chr14	21549161	21549161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgggccctgcggctacagCgcttcttccagcaggtgcat	12	14	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr14:21549161C>T	uc001vzp.2	+	13	2655	c.2626C>T	c.(2626-2628)CGC>TGC	p.R876C	FLJ10357_uc001vzo.1_5'UTR|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.R162C	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	876					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		GCGGCTACAGCGCTTCTTCCA	0.537													T	21549161	C	T	21549161	3	4	66	1	0	0	0	0	1	0	0	0	5926	768	27	1	2676	1	FLJ10357	14	21549161	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	837284	21549161	85800379	243	48173											
RPGRIP1	57096	broad.mit.edu	37	chr14	21793997	21793997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacatctttccagttcagatCggagtcttgggaacctcaga	9	10	4	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr14:21793997C>T	uc001wag.2	+	16	2375	c.2375C>T	c.(2374-2376)TCG>TTG	p.S792L	RPGRIP1_uc001wah.2_Missense_Mutation_p.S434L|RPGRIP1_uc001wai.2_Intron|RPGRIP1_uc001wak.2_Missense_Mutation_p.S267L|RPGRIP1_uc010aim.2_Missense_Mutation_p.S175L|RPGRIP1_uc001wal.2_Missense_Mutation_p.S151L|RPGRIP1_uc001wam.2_Missense_Mutation_p.S109L	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	792					response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAGTTCAGATCGGAGTCTTGG	0.507													T	21793997	C	T	21793997	3	4	66	1	0	0	0	0	1	0	0	0	13549	893	31	1	2437	1	RPGRIP1	14	21793997	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	244836	21793997	85555543	244	48174											
SLC22A17	51310	broad.mit.edu	37	chr14	23817839	23817839	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccaccaactcccctgccaGggccacccgaagcctctggg	9	21	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr14:23817839G>T	uc001wjl.2	-	4	624	c.568C>A	c.(568-570)CTG>ATG	p.L190M	SLC22A17_uc010akk.2_Intron|SLC22A17_uc001wjn.2_Intron|SLC22A17_uc001wjm.2_Missense_Mutation_p.L190M|SLC22A17_uc010akl.1_3'UTR	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17 isoform a	190	Helical; (Potential).				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity				0	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TCCCCTGCCAGGGCCACCCGA	0.512													T	23817839	G	T	23817839	3	4	66	1	0	0	0	0	1	0	0	0	14448	991	35	5	1072	5	SLC22A17	14	23817839	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	2023842	23817839	83531701	245	48175											
ARHGAP5	394	broad.mit.edu	37	chr14	32561828	32561828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagtcagttatggactgcCgcctttaaaccacatgggtg	11	9	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr14:32561828C>T	uc001wrl.2	+	2	2192	c.1953C>T	c.(1951-1953)GCC>GCT	p.A651A	ARHGAP5_uc001wrm.2_Silent_p.A651A|ARHGAP5_uc001wrn.2_Silent_p.A651A|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	651					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TATGGACTGCCGCCTTTAAAC	0.393													T	32561828	C	T	32561828	2	4	66	1	0	0	0	0	0	0	0	1	886	639	23	1		1	ARHGAP5	14	32561828	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	8743989	32561828	74787712	246	48176											
SNX6	58533	broad.mit.edu	37	chr14	35037121	35037121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataattgttgggaagtttcGgcctgtagaacatctttatt	9	6	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr14:35037121G>A	uc001wsf.1	-	12	1064	c.1056C>T	c.(1054-1056)GCC>GCT	p.A352A	SNX6_uc001wse.1_Silent_p.A224A|SNX6_uc010tpm.1_Silent_p.A228A|SNX6_uc010amm.1_Silent_p.A228A	NM_152233	NP_689419	Q9UNH7	SNX6_HUMAN	sorting nexin 6 isoform b	340					cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity				0	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		GGGAAGTTTCGGCCTGTAGAA	0.348													A	35037121	G	A	35037121	2	1	66	1	0	0	0	0	0	0	0	1	14906	1103	39	1		1	SNX6	14	35037121	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	2475293	35037121	72312419	247	48177											
C14orf101	54916	broad.mit.edu	37	chr14	57070685	57070685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgtacattttgaggaagCagcaactgctaaggagagat	11	6	0	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr14:57070685C>T	uc001xcm.2	+	4	619	c.497C>T	c.(496-498)GCA>GTA	p.A166V	C14orf101_uc001xcj.2_RNA|C14orf101_uc001xck.2_Missense_Mutation_p.A166V|C14orf101_uc010aot.1_Missense_Mutation_p.A166V|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_Intron	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	hypothetical protein LOC54916	166						integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)		TTTGAGGAAGCAGCAACTGCT	0.373													T	57070685	C	T	57070685	3	4	66	1	0	0	0	0	1	0	0	0	1734	710	25	2	511	2	C14orf101	14	57070685	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	22033564	57070685	50278855	248	48178											
ARID4A	5926	broad.mit.edu	37	chr14	58831119	58831119	+	Frame_Shift_Del	DEL	T	T	-													gaatgaacaaatagtacagaTttttgggaacaaaatggaaa							TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr14:58831118_58831118AT>A	uc001xdp.3	+	19	2565	c.2311_2311AT>A	c.(2311-2313)attfs	p.I771fs	ARID4A_uc001xdo.3_Frame_Shift_Del_p.I771fs|ARID4A_uc001xdq.3_Frame_Shift_Del_p.I771fs|ARID4A_uc010apg.1_Frame_Shift_Del_p.I449fs	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	771					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AATAGTACAGATTTTTGGGAA	0.333													-	58831119	T	-	58831119	7	5	66	1	0	1	0	1	0	0	0	0	919	1493	52	0	2386	0	ARID4A	14	58831119	Frame_Shift_Del	DEL	T	TCGA-BR-8284-01A-11D-2340-08	1760434	58831119	48518421	249	48179											
RDH11	51109	broad.mit.edu	37	chr14	68151905	68151905	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccagggtgtacagaataCgtcgtaacgccagagcctgg	14	10	0	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr14:68151905C>T	uc001xjv.3	-	6	771	c.681G>A	c.(679-681)ACG>ACA	p.T227T	RDH11_uc001xjw.3_Silent_p.T214T|RDH11_uc001xjx.3_Silent_p.T157T	NM_016026	NP_057110	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11	227	Cytoplasmic (Potential).				retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(1)	1				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	GTACAGAATACGTCGTAACGC	0.468													T	68151905	C	T	68151905	2	4	66	1	0	0	0	0	0	0	0	1	13190	523	19	1		1	RDH11	14	68151905	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	9320786	68151905	39197635	250	48180											
HERC2	8924	broad.mit.edu	37	chr15	28441687	28441687	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgctggggaaagtcgacAatgatatcttttccattggc	11	8	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr15:28441687A>G	uc001zbj.2	-	51	8146	c.8040T>C	c.(8038-8040)ATT>ATC	p.I2680I	HERC2_uc001zbk.1_Silent_p.I215I	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2680					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAAAGTCGACAATGATATCTT	0.428													G	28441687	A	G	28441687	2	3	66	1	0	0	0	0	0	0	0	1	7058	126	5	3		3	HERC2	15	28441687	Silent	SNP	A	TCGA-BR-8284-01A-11D-2340-08		28441687	74089705	251	48181											
MTMR15	22909	broad.mit.edu	37	chr15	31197648	31197648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggattctcagataatgCgatcatgttattctcaccag	7	11	3	1	rs137920161		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr15:31197648C>T	uc001zff.2	+	2	1073	c.782C>T	c.(781-783)GCG>GTG	p.A261V	MTMR15_uc001zfc.3_Missense_Mutation_p.A261V|MTMR15_uc010azw.2_Missense_Mutation_p.A261V|MTMR15_uc001zfd.3_Missense_Mutation_p.A261V|MTMR15_uc001zfe.2_5'UTR	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	261					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		TCAGATAATGCGATCATGTTA	0.403								Direct_reversal_of_damage|Editing_and_processing_nucleases					T	31197648	C	T	31197648	3	4	66	1	0	0	0	0	1	0	0	0	9943	768	27	1	784	1	MTMR15	15	31197648	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	2755961	31197648	71333744	252	48182											
SPTBN5	51332	broad.mit.edu	37	chr15	42145505	42145505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctgctgtccttcctgcCgcaggtcctgggcttgaagg	13	14	0	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr15:42145505C>T	uc001zos.2	-	59	10349	c.10016G>A	c.(10015-10017)CGG>CAG	p.R3339Q		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3374	Spectrin 30.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCTTCCTGCCGCAGGTCCTG	0.627													T	42145505	C	T	42145505	3	4	66	1	0	0	0	0	1	0	0	0	15121	652	23	1	943	1	SPTBN5	15	42145505	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	10947857	42145505	60385887	253	48183											
SHF	90525	broad.mit.edu	37	chr15	45491037	45491039	+	In_Frame_Del	DEL	TTC	TTC	-													ttgtactccgccagttgcttTtcttcttctgttttggccca							TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr15:45491036_45491038TTTC>T	uc001zuy.3	-	1	730_732	c.235_237GAAA>A	c.(235-237)aaa>A	p.K79del	TRNA_uc021skk.1_5'Flank|TRNA_uc021skl.1_5'Flank	NM_138356	NP_612365	B3KTY1	B3KTY1_HUMAN	Homo sapiens Src homology 2 domain containing F (SHF), mRNA.	79										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		GCCAGTTGCTTTTCTTCTTCTGT	0.571											OREG0023105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	45491039	TTC	-	45491037	7	5	66	1	0	1	0	1	0	0	0	0	14277	1841	64	0	1063	0	SHF	15	45491037	In_Frame_Del	DEL	TTC	TCGA-BR-8284-01A-11D-2340-08	3345532	45491037	57040355	254	48184											
SEMA6D	80031	broad.mit.edu	37	chr15	48059278	48059278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagattacaaaatatttggcGgtccaacatctggttagttt	8	7	1	1	rs150769593		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr15:48059278G>A	uc010bek.2	+	17	2113	c.1753G>A	c.(1753-1755)GGT>AGT	p.G585S	SEMA6D_uc001zvw.2_Intron|SEMA6D_uc001zvy.2_Missense_Mutation_p.G585S|SEMA6D_uc001zvz.2_Missense_Mutation_p.G585S|SEMA6D_uc001zwa.2_Intron|SEMA6D_uc001zwb.2_Intron|SEMA6D_uc001zwc.2_Intron	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	585	Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AATATTTGGCGGTCCAACATC	0.338													A	48059278	G	A	48059278	3	1	66	1	0	0	0	0	1	0	0	0	14042	1116	39	1	1858	1	SEMA6D	15	48059278	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	2568241	48059278	54472114	255	48185											
CCPG1	9236	broad.mit.edu	37	chr15	55724733	55724733	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgacagaatgctgttccaCgtcgtacatgtgccttcatt	9	10	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr15:55724733C>T	uc002acy.2	-	8	1370	c.-47G>A	c.(-49--45)ACGTG>ACATG		DYX1C1_uc010ugh.1_Intron|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Intron|DYX1C1_uc002adc.2_Missense_Mutation_p.R372H|DYX1C1_uc002add.2_Intron	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2						cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)		TGCTGTTCCACGTCGTACATG	0.338													T	55724733	C	T	55724733	1	4	66	1	0	0	0	0	0	0	0	0	2938	536	19	1		1	CCPG1	15	55724733	Translation_Start_Site	SNP	C	TCGA-BR-8284-01A-11D-2340-08	7665455	55724733	46806659	256	48186											
ITGA11	22801	broad.mit.edu	37	chr15	68649512	68649512	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaattcaatgccaaatgcCgtccgggtctctgttcctcc	8	14	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr15:68649512C>T	uc002ari.2	-	7	813	c.726G>A	c.(724-726)ACG>ACA	p.T242T	ITGA11_uc010bib.2_Silent_p.T242T	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	242	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	TGCCAAATGCCGTCCGGGTCT	0.363													T	68649512	C	T	68649512	2	4	66	1	0	0	0	0	0	0	0	1	7874	639	23	1		1	ITGA11	15	68649512	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	12924779	68649512	33881880	257	48187											
ISLR2	57611	broad.mit.edu	37	chr15	74425596	74425596	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgctggcgcctggcaccttCgacgcgcttagcgcgctgtc	13	16	0	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr15:74425596C>T	uc002axd.2	+	4	1270	c.501C>T	c.(499-501)TTC>TTT	p.F167F	ISLR2_uc002axe.2_Silent_p.F167F|ISLR2_uc010bjg.2_Silent_p.F167F|ISLR2_uc010bjf.2_Silent_p.F167F	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	167	Extracellular (Potential).|LRR 5.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						CTGGCACCTTCGACGCGCTTA	0.677													T	74425596	C	T	74425596	2	4	66	1	0	0	0	0	0	0	0	1	7859	883	31	1		1	ISLR2	15	74425596	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	5776084	74425596	28105796	258	48188											
CLK3	1198	broad.mit.edu	37	chr15	74918311	74918312	+	Splice_Site	INS	-	-	T													tctgccacgcccttagatgtINSaagtgtccaccctcaaaaga							TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr15:74918310_74918311G>GT	uc010uln.2	+	7	1722	c.1261_splice	c.e7+1	p.F421_splice	CLK3_uc002ayg.4_Splice_Site_p.F273_splice|CLK3_uc002ayh.4_Splice_Site_p.F52_splice|CLK3_uc002ayj.4_Splice_Site_p.F250_splice|CLK3_uc002ayk.4_Splice_Site_p.F200_splice|CLK3_uc002ayl.4_Splice_Site_p.F106_splice	NM_001130028	NP_003983	P49761	CLK3_HUMAN	Homo sapiens CDC-like kinase 3 (CLK3), transcript variant 1, mRNA.	421	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						GCCCTTAGATGTAAGTGTCCAC	0.515													T	74918312	-	T	74918311	8	5	66	1	0	1	1	0	0	0	1	0	3538	1652	57	0	1289	0	CLK3	15	74918311	Splice_Site	INS	-	TCGA-BR-8284-01A-11D-2340-08	492715	74918311	27613081	259	48189											
IL16	3603	broad.mit.edu	37	chr15	81592262	81592262	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagagactgagcctccaGccctcctctggggaggcagc	13	16	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr15:81592262G>A	uc002bgh.3	+	14	2971	c.2595G>A	c.(2593-2595)CAG>CAA	p.Q865Q	IL16_uc010blq.1_Silent_p.Q819Q|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.Q907Q|IL16_uc002bgg.2_Silent_p.Q865Q|IL16_uc002bgi.1_Silent_p.Q255Q|IL16_uc002bgj.2_Silent_p.Q359Q|IL16_uc002bgk.2_Silent_p.Q164Q|IL16_uc002bgl.1_Silent_p.Q164Q|IL16_uc010unq.1_Silent_p.Q164Q	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	865					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						TGAGCCTCCAGCCCTCCTCTG	0.522													A	81592262	G	A	81592262	2	1	66	1	0	0	0	0	0	0	0	1	7633	962	34	2		2	IL16	15	81592262	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	6673951	81592262	20939130	260	48190											
ARRDC4	91947	broad.mit.edu	37	chr15	98514381	98514381	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgacccacatcctagcgaCgtagaagagagccagcctgt	11	12	0	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr15:98514381C>T	uc010bom.2	+	8	1380	c.1221C>T	c.(1219-1221)GAC>GAT	p.D407D	ARRDC4_uc002bui.3_Silent_p.D320D	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	407					signal transduction						0	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			ATCCTAGCGACGTAGAAGAGA	0.378													T	98514381	C	T	98514381	2	4	66	1	0	0	0	0	0	0	0	1	985	535	19	1		1	ARRDC4	15	98514381	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	16922119	98514381	4017011	261	48191											
ZNF205	7755	broad.mit.edu	37	chr16	3168941	3168941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctttctgggcccctcaaGcgcacggcaagggtgaggcc	15	14	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:3168941G>A	uc002cub.2	+	6	655	c.520G>A	c.(520-522)GCG>ACG	p.A174T	ZNF205_uc002cua.2_Missense_Mutation_p.A174T	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	174	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						GGCCCCTCAAGCGCACGGCAA	0.652													A	3168941	G	A	3168941	3	1	66	1	0	0	0	0	1	0	0	0	17761	971	34	2	538	2	ZNF205	16	3168941	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08		3168941	87185812	262	48192											
TFAP4	7023	broad.mit.edu	37	chr16	4312613	4312613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgttgatgctctgcatgCgtctccgctcgttgctgttg	12	13	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:4312613C>T	uc010uxg.1	-	2	433	c.179G>A	c.(178-180)CGC>CAC	p.R60H		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	60	Basic motif.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						GCTCTGCATGCGTCTCCGCTC	0.622													T	4312613	C	T	4312613	3	4	66	1	0	0	0	0	1	0	0	0	15789	768	27	1	861	1	TFAP4	16	4312613	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	1143672	4312613	86042140	263	48193											
C16orf68	79091	broad.mit.edu	37	chr16	8722947	8722947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggaagcacaaggcagccCgcacgatatcatcagaatag	11	10	2	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:8722947C>T	uc002cyz.2	+	3	770	c.494C>T	c.(493-495)CCG>CTG	p.P165L	C16orf68_uc002cza.2_Missense_Mutation_p.P109L	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	hypothetical protein LOC79091	165							methyltransferase activity				0						CAAGGCAGCCCGCACGATATC	0.532													T	8722947	C	T	8722947	3	4	66	1	0	0	0	0	1	0	0	0	1827	652	23	1	500	1	C16orf68	16	8722947	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	4410334	8722947	81631806	264	48194											
GRIN2A	2903	broad.mit.edu	37	chr16	9857287	9857287	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccaagcgttggtcatcccTgtgggagtggaggaaagggt	16	7	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:9857287T>G	uc002czo.3	-	13	4662	c.4114A>C	c.(4114-4116)AGG>CGG	p.R1372R	GRIN2A_uc010uym.1_Silent_p.R1372R|GRIN2A_uc010uyn.1_Intron|GRIN2A_uc002czr.3_Intron	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1372	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGTCATCCCTGTGGGAGTGG	0.542													G	9857287	T	G	9857287	2	3	66	1	0	0	0	0	0	0	0	1	6779	1594	55	5		5	GRIN2A	16	9857287	Silent	SNP	T	TCGA-BR-8284-01A-11D-2340-08	1134340	9857287	80497466	265	48195											
CLEC16A	23274	broad.mit.edu	37	chr16	11260312	11260312	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcacagtcgccaccctcCgccagcgggagccccagcgg	11	20	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:11260312C>T	uc002dao.2	+	23	2939	c.2709C>T	c.(2707-2709)TCC>TCT	p.S903S	CLEC16A_uc002dap.2_5'UTR	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	903	Ser-rich.									ovary(1)|central_nervous_system(1)	2						CGCCACCCTCCGCCAGCGGGA	0.657													T	11260312	C	T	11260312	2	4	66	1	0	0	0	0	0	0	0	1	3500	639	23	1		1	CLEC16A	16	11260312	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	1403025	11260312	79094441	266	48196											
LOC81691	81691	broad.mit.edu	37	chr16	20855996	20855996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttgattgtgacaccctcGtgaatgagctggaaggagat	13	8	0	5			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:20855996G>A	uc002dhv.2	+	17	2028	c.1765G>A	c.(1765-1767)GTG>ATG	p.V589M	ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.V558M|LOC81691_uc002dhw.2_Missense_Mutation_p.V332M|LOC81691_uc002dhy.3_Missense_Mutation_p.V589M	NM_030941	NP_112203	Q96IC2	REXON_HUMAN	exonuclease NEF-sp isoform 1	589						nucleolus	exonuclease activity|nucleotide binding|RNA binding			ovary(1)|kidney(1)	2						TGACACCCTCGTGAATGAGCT	0.468													A	20855996	G	A	20855996	3	1	66	1	0	0	0	0	1	0	0	0	8890	1145	40	1	1827	1	LOC81691	16	20855996	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	9595684	20855996	69498757	267	48197											
DNAH3	55567	broad.mit.edu	37	chr16	21042477	21042477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgaagacgcttgctcccGgaaagcattggcaaggacac	13	10	0	2	rs142410393	byFrequency	TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:21042477G>A	uc010vbe.1	-	37	5329	c.5329C>T	c.(5329-5331)CGG>TGG	p.R1777W		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1777	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GCTTGCTCCCGGAAAGCATTG	0.483													A	21042477	G	A	21042477	3	1	66	1	0	0	0	0	1	0	0	0	4603	1115	39	1	7124	1	DNAH3	16	21042477	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	186481	21042477	69312276	268	48198											
POLR3E	55718	broad.mit.edu	37	chr16	22319478	22319478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctccccagtaccctgtgCgtccagcctcgatgacctac	7	20	0	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:22319478C>T	uc002dkk.2	+	4	253	c.97C>T	c.(97-99)CGT>TGT	p.R33C	POLR3E_uc002dkj.1_Missense_Mutation_p.R33C|POLR3E_uc002dkm.2_5'UTR|POLR3E_uc010vbr.1_Missense_Mutation_p.R33C|POLR3E_uc002dkl.2_Missense_Mutation_p.R33C|POLR3E_uc010vbs.1_Intron|POLR3E_uc010vbt.1_5'UTR	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	RNA polymerase III polypeptide E	33					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.012)		GTACCCTGTGCGTCCAGCCTC	0.622													T	22319478	C	T	22319478	3	4	66	1	0	0	0	0	1	0	0	0	12232	768	27	1	107	1	POLR3E	16	22319478	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	1277001	22319478	68035275	269	48199											
RBBP6	5930	broad.mit.edu	37	chr16	24579195	24579195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaaaagattcaaaaggagCgtaggcgctcattttccagg	10	8	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:24579195C>T	uc002dmh.2	+	16	3075	c.2035C>T	c.(2035-2037)CGT>TGT	p.R679C	RBBP6_uc010vcb.1_Missense_Mutation_p.R546C|RBBP6_uc002dmi.2_Intron|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Intron	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	679					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		TCAAAAGGAGCGTAGGCGCTC	0.348													T	24579195	C	T	24579195	3	4	66	1	0	0	0	0	1	0	0	0	13103	768	27	1	2151	1	RBBP6	16	24579195	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	2259717	24579195	65775558	270	48200											
SRCAP	10847	broad.mit.edu	37	chr16	30750774	30750774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagactgagaagttgcctcGcaaacgagcaggggccccag	14	11	0	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:30750774G>A	uc002dze.1	+	34	9798	c.9413G>A	c.(9412-9414)CGC>CAC	p.R3138H	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R2933H	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	3138					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			AAGTTGCCTCGCAAACGAGCA	0.632													A	30750774	G	A	30750774	3	1	66	1	0	0	0	0	1	0	0	0	15134	1087	38	1	9539	1	SRCAP	16	30750774	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	6171579	30750774	59603979	271	48201											
TRIM72	493829	broad.mit.edu	37	chr16	31234251	31234251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtggaggaagatgttcCgggctctgatgccaggtacc	16	8	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:31234251C>T	uc002ebn.1	+	6	1073	c.844C>T	c.(844-846)CGG>TGG	p.R282W	uc002ebp.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	tripartite motif-containing 72	282	B30.2/SPRY.				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding				0						GAAGATGTTCCGGGCTCTGAT	0.597													T	31234251	C	T	31234251	3	4	66	1	0	0	0	0	1	0	0	0	16542	643	23	1	862	1	TRIM72	16	31234251	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	483477	31234251	59120502	272	48202											
CES7	221223	broad.mit.edu	37	chr16	55903586	55903586	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagcacgtcctcataggcaGccagggcggacccatcaaag	11	15	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:55903586G>T	uc002eip.2	-	4	637	c.488C>A	c.(487-489)GCT>GAT	p.A163D	CES7_uc002eio.2_Missense_Mutation_p.A163D|CES7_uc002eiq.2_Translation_Start_Site|CES7_uc002eir.2_Missense_Mutation_p.A57D	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	163						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		CTCATAGGCAGCCAGGGCGGA	0.557													T	55903586	G	T	55903586	3	4	66	1	0	0	0	0	1	0	0	0	3272	971	34	5	1279	5	CES7	16	55903586	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	24669335	55903586	34451167	273	48203											
SLC9A5	6553	broad.mit.edu	37	chr16	67290943	67290943	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcgtcatcctactggataGgaccaaggtccctgccaagg	10	13	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:67290943G>T	uc002esm.2	+	7	1325	c.1262G>T	c.(1261-1263)AGG>ATG	p.R421M	SLC9A5_uc010cee.2_Missense_Mutation_p.R126M|SLC9A5_uc010vji.1_Translation_Start_Site	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	421					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CTACTGGATAGGACCAAGGTC	0.567													T	67290943	G	T	67290943	3	4	66	1	0	0	0	0	1	0	0	0	14717	1000	35	5	1288	5	SLC9A5	16	67290943	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	11387357	67290943	23063810	274	48204											
CTRL	1506	broad.mit.edu	37	chr16	67964638	67964638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcactcacccgagagacGgacagaacctgcaagggctc	12	14	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:67964638G>A	uc002euw.2	-	4	319	c.309C>T	c.(307-309)TCC>TCT	p.S103S		NM_001907	NP_001898	P40313	CTRL_HUMAN	chymotrypsin-like precursor	103	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CCCGAGAGACGGACAGAACCT	0.607													A	67964638	G	A	67964638	2	1	66	1	0	0	0	0	0	0	0	1	4028	1103	39	1		1	CTRL	16	67964638	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	673695	67964638	22390115	275	48205											
CHST5	23563	broad.mit.edu	37	chr16	75563965	75563965	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgtgcagcgttgccgcGctgccctgcgacagggtggt	16	13	0	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:75563965G>A	uc002fei.2	-	3	1713	c.318C>T	c.(316-318)AGC>AGT	p.S106S	CHST5_uc002fej.1_Silent_p.S112S	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	106	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GCGTTGCCGCGCTGCCCTGCG	0.612													A	75563965	G	A	75563965	2	1	66	1	0	0	0	0	0	0	0	1	3407	1078	38	1		1	CHST5	16	75563965	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	7599327	75563965	14790788	276	48206											
SLC7A5	8140	broad.mit.edu	37	chr16	87870208	87870208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagctgaagaagttgatgaCggagaagatgtccttggaga	15	4	0	7	rs149119495		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:87870208C>T	uc002fkm.2	-	8	1258	c.1186G>A	c.(1186-1188)GTC>ATC	p.V396I		NM_003486	NP_003477	Q01650	LAT1_HUMAN	solute carrier family 7 (cationic amino acid	396	Helical; (Potential).				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding				0				BRCA - Breast invasive adenocarcinoma(80;0.049)		AAGTTGATGACGGAGAAGATG	0.602													T	87870208	C	T	87870208	3	4	66	1	0	0	0	0	1	0	0	0	14700	536	19	1	349	1	SLC7A5	16	87870208	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	12306243	87870208	2484545	277	48207											
TUBB3	10381	broad.mit.edu	37	chr16	89986277	89986277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctatgctggtgctcatggCcgtgctgtacgtccacatgc	13	12	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:89986277C>T	uc002fpf.2	+	1	1019	c.611C>T	c.(610-612)GCC>GTC	p.A204V	MC1R_uc002fpe.3_Missense_Mutation_p.A204V|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	Error:Variant_position_missing_in_Q13509_after_alignment					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GTGCTCATGGCCGTGCTGTAC	0.657													T	89986277	C	T	89986277	3	4	66	1	0	0	0	0	1	0	0	0	16754	739	26	2		2	TUBB3	16	89986277	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	2116069	89986277	368476	278	48208											
USP6	9098	broad.mit.edu	37	chr17	5048857	5048857	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actaccaatggacagttacaTggacttagaaataacaggta	8	7	0	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:5048857T>C	uc002gau.1	+	27	4380	c.2150T>C	c.(2149-2151)ATG>ACG	p.M717T	USP6_uc002gav.1_Missense_Mutation_p.M717T|USP6_uc010ckz.1_Missense_Mutation_p.M400T	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	717					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						GACAGTTACATGGACTTAGAA	0.333			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								C	5048857	T	C	5048857	3	2	66	1	0	0	0	0	1	0	0	0	17083	1464	51	3	2220	3	USP6	17	5048857	Missense_Mutation	SNP	T	TCGA-BR-8284-01A-11D-2340-08		5048857	76146353	279	48209											
MYH4	4622	broad.mit.edu	37	chr17	10354172	10354172	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctcgggatagctgagaAaccatagcatctttttcatc	8	10	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:10354172A>G	uc002gmn.2	-	29	4017	c.3906T>C	c.(3904-3906)GTT>GTC	p.V1302V	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1302	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						ATAGCTGAGAAACCATAGCAT	0.383													G	10354172	A	G	10354172	2	3	66	1	0	0	0	0	0	0	0	1	10037	1	1	3		3	MYH4	17	10354172	Silent	SNP	A	TCGA-BR-8284-01A-11D-2340-08	5305315	10354172	70841038	280	48210											
DNAH9	1770	broad.mit.edu	37	chr17	11806090	11806090	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcgggacatagagggatctGctaagagctggaaaaagttt	13	5	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:11806090G>T	uc002gne.2	+	60	11529	c.11461G>T	c.(11461-11463)GCT>TCT	p.A3821S	DNAH9_uc010coo.2_Missense_Mutation_p.A3115S|DNAH9_uc002gnf.2_Missense_Mutation_p.A133S|DNAH9_uc010vvh.1_Missense_Mutation_p.A174S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3821					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGAGGGATCTGCTAAGAGCTG	0.468													T	11806090	G	T	11806090	3	4	66	1	0	0	0	0	1	0	0	0	4608	1319	46	5	11699	5	DNAH9	17	11806090	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	1451918	11806090	69389120	281	48211											
FLOT2	2319	broad.mit.edu	37	chr17	27211272	27211272	+	Frame_Shift_Del	DEL	C	C	-													acccgtcacagttaaagctaCcccctcggccgtctctacgt							TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:27211271_27211271AC>A	uc002hdc.3	-	2	317	c.194_194GT>T	c.(193-195)gtafs	p.V65fs		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	Homo sapiens flotillin 2 (FLOT2), mRNA.	65					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AGTTAAAGCTACCCCCTCGGC	0.607													-	27211272	C	-	27211272	7	5	66	1	0	1	0	1	0	0	0	0	5937	507	18	0	1129	0	FLOT2	17	27211272	Frame_Shift_Del	DEL	C	TCGA-BR-8284-01A-11D-2340-08	15405182	27211272	53983938	282	48212											
SSH2	85464	broad.mit.edu	37	chr17	27959108	27959108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatattcaatgatttctaccCtcttgggaaggggaagaggg	12	6	3	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:27959108C>T	uc002heo.1	-	15	3023	c.3023G>A	c.(3022-3024)AGG>AAG	p.R1008K	SSH2_uc010wbh.1_Missense_Mutation_p.R1035K	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	1008					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						GATTTCTACCCTCTTGGGAAG	0.502													T	27959108	C	T	27959108	3	4	66	1	0	0	0	0	1	0	0	0	15184	681	24	4	1252	4	SSH2	17	27959108	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	747836	27959108	53236102	283	48213											
NF1	4763	broad.mit.edu	37	chr17	29552243	29552243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcctggagcctctctccGgaagggaaaagggaactcct	11	12	1	0	rs151138158		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:29552243G>A	uc002hgg.2	+	17	2309	c.1976G>A	c.(1975-1977)CGG>CAG	p.R659Q	NF1_uc002hgh.2_Missense_Mutation_p.R659Q|NF1_uc010csn.1_Missense_Mutation_p.R519Q|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	659					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCCTCTCTCCGGAAGGGAAAA	0.393			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29552243	G	A	29552243	3	1	66	1	0	0	0	0	1	0	0	0	10356	1116	39	1	2103	1	NF1	17	29552243	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	1593135	29552243	51642967	284	48214											
PLXDC1	57125	broad.mit.edu	37	chr17	37235398	37235398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccactcctggcgatagcGgtcaaagccactggagcatc	10	14	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:37235398G>A	uc002hrg.2	-	10	1221	c.1009C>T	c.(1009-1011)CGC>TGC	p.R337C	uc002hre.1_Intron|uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Missense_Mutation_p.R45C|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1 precursor	337	Extracellular (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)|skin(1)	3						TGGCGATAGCGGTCAAAGCCA	0.527													A	37235398	G	A	37235398	3	1	66	1	0	0	0	0	1	0	0	0	12117	1116	39	1	513	1	PLXDC1	17	37235398	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	7683155	37235398	43959812	285	48215											
CASC3	22794	broad.mit.edu	37	chr17	38318390	38318390	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgatcttcgagggcaaactCaggaggaggaagtcaggtaa	14	6	3	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:38318390C>T	uc010cwt.1	+	5	887	c.592C>T	c.(592-594)CAG>TAG	p.Q198*	CASC3_uc010cws.1_Nonsense_Mutation_p.Q198*|CASC3_uc002hue.2_Nonsense_Mutation_p.Q198*	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	198	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						AGGGCAAACTCAGGAGGAGGA	0.348													T	38318390	C	T	38318390	4	4	66	1	0	0	0	0	0	1	0	0	2661	827	29	4	610	4	CASC3	17	38318390	Nonsense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	1082992	38318390	42876820	286	48216			1	19		10	10	7292	C		8.893235e-16
CASC3	22794	broad.mit.edu	37	chr17	38319064	38319064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatgagcaggccccaaagtCccgacaggagctcattgctc	11	13	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:38319064C>T	uc010cwt.1	+	6	990	c.695C>T	c.(694-696)TCC>TTC	p.S232F	CASC3_uc010cws.1_Missense_Mutation_p.S232F|CASC3_uc002hue.2_Missense_Mutation_p.S232F	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	232	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						GCCCCAAAGTCCCGACAGGAG	0.512													T	38319064	C	T	38319064	3	4	66	1	0	0	0	0	1	0	0	0	2661	855	30	4	717	4	CASC3	17	38319064	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	674	38319064	42876146	287	48217			1	19		10	10	7292	C		8.893235e-16
CASC3	22794	broad.mit.edu	37	chr17	38319117	38319117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acattcgctcagctcataatCctgatgacatcaaacctcga	5	13	3	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:38319117C>T	uc010cwt.1	+	6	1043	c.748C>T	c.(748-750)CCT>TCT	p.P250S	CASC3_uc010cws.1_Missense_Mutation_p.P250S|CASC3_uc002hue.2_Missense_Mutation_p.P250S	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	250	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						AGCTCATAATCCTGATGACAT	0.458													T	38319117	C	T	38319117	3	4	66	1	0	0	0	0	1	0	0	0	2661	855	30	4	770	4	CASC3	17	38319117	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	53	38319117	42876093	288	48218			1	19		10	10	7292	C		8.893235e-16
CASC3	22794	broad.mit.edu	37	chr17	38323834	38323834	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccgcccctccagtgcatatCagtatcatggagggacatta	9	13	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:38323834C>T	uc010cwt.1	+	9	1915	c.1620C>T	c.(1618-1620)ATC>ATT	p.I540I	CASC3_uc002hue.2_Silent_p.I540I	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	540	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CAGTGCATATCAGTATCATGG	0.517													T	38323834	C	T	38323834	2	4	66	1	0	0	0	0	0	0	0	1	2661	816	29	4		4	CASC3	17	38323834	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	4717	38323834	42871376	289	48219			1	19		10	10	7292	C		8.893235e-16
CASC3	22794	broad.mit.edu	37	chr17	38323862	38323862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggagggacattactatgatCcacgtgagttttttcttact	9	7	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:38323862C>T	uc010cwt.1	+	9	1943	c.1648C>T	c.(1648-1650)CCA>TCA	p.P550S	CASC3_uc002hue.2_Missense_Mutation_p.P550S	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	550	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						TTACTATGATCCACGTGAGTT	0.502													T	38323862	C	T	38323862	3	4	66	1	0	0	0	0	1	0	0	0	2661	855	30	4	1682	4	CASC3	17	38323862	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	28	38323862	42871348	290	48220			1	19		10	10	7292	C		8.893235e-16
CASC3	22794	broad.mit.edu	37	chr17	38324513	38324513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggcctctatcccccacCagtgtccatgtctccaggac	7	18	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:38324513C>T	uc010cwt.1	+	11	2103	c.1808C>T	c.(1807-1809)CCA>CTA	p.P603L	CASC3_uc002hue.2_Missense_Mutation_p.P603L	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	603	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						TATCCCCCACCAGTGTCCATG	0.488											OREG0024392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	38324513	C	T	38324513	3	4	66	1	0	0	0	0	1	0	0	0	2661	594	21	4	1850	4	CASC3	17	38324513	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	651	38324513	42870697	291	48221			1	19		10	10	7292	C		8.893235e-16
CASC3	22794	broad.mit.edu	37	chr17	38324586	38324586	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacttttctgctccaggcgtCatgaactttggtaatcccag	8	11	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:38324586C>T	uc010cwt.1	+	11	2176	c.1881C>T	c.(1879-1881)GTC>GTT	p.V627V	CASC3_uc002hue.2_Silent_p.V627V	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	627	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CTCCAGGCGTCATGAACTTTG	0.542											OREG0024392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	38324586	C	T	38324586	2	4	66	1	0	0	0	0	0	0	0	1	2661	813	29	4		4	CASC3	17	38324586	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	73	38324586	42870624	292	48222			1	19		10	10	7292	C		8.893235e-16
CASC3	22794	broad.mit.edu	37	chr17	38324639	38324639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggggcactgcctccccCaccaccgcctcatctgtatc	7	20	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:38324639C>T	uc010cwt.1	+	11	2229	c.1934C>T	c.(1933-1935)CCA>CTA	p.P645L	CASC3_uc002hue.2_Missense_Mutation_p.P645L	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	645	Necessary for localization in cytoplasmic stress granules.|Poly-Pro.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CTGCCTCCCCCACCACCGCCT	0.478											OREG0024392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	38324639	C	T	38324639	3	4	66	1	0	0	0	0	1	0	0	0	2661	594	21	4	1976	4	CASC3	17	38324639	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	53	38324639	42870571	293	48223			1	19		10	10	7292	C		8.893235e-16
CASC3	22794	broad.mit.edu	37	chr17	38325584	38325584	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtggggtcccaggccccatCacaggtatatggaggagtga	15	9	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:38325584C>T	uc010cwt.1	+	12	2268	c.1973C>T	c.(1972-1974)TCA>TTA	p.S658L	CASC3_uc002hue.2_Missense_Mutation_p.S658L	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	658	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CAGGCCCCATCACAGGTATAT	0.517													T	38325584	C	T	38325584	3	4	66	1	0	0	0	0	1	0	0	0	2661	838	29	4	2019	4	CASC3	17	38325584	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	945	38325584	42869626	294	48224			1	19		10	10	7292	C		8.893235e-16
CASC3	22794	broad.mit.edu	37	chr17	38325681	38325681	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actccccagccagtcaccatCaagccccctccacctgaggt	6	20	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:38325681C>T	uc010cwt.1	+	12	2365	c.2070C>T	c.(2068-2070)ATC>ATT	p.I690I	CASC3_uc002hue.2_Silent_p.I690I	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	690	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CAGTCACCATCAAGCCCCCTC	0.557													T	38325681	C	T	38325681	2	4	66	1	0	0	0	0	0	0	0	1	2661	816	29	4		4	CASC3	17	38325681	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	97	38325681	42869529	295	48225			1	19		10	10	7292	C		8.893235e-16
CDC6	990	broad.mit.edu	37	chr17	38458232	38458232	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaagctttaattggaaatatCttagctactggattgcctta	7	6	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:38458232C>G	uc002huj.1	+	12	1872	c.1662C>G	c.(1660-1662)ATC>ATG	p.I554M		NM_001254	NP_001245	Q99741	CDC6_HUMAN	cell division cycle 6 protein	554					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			ovary(2)|breast(1)	3						TTGGAAATATCTTAGCTACTG	0.358													G	38458232	C	G	38458232	3	3	66	1	0	0	0	0	1	0	0	0	3083	903	32	5	1704	5	CDC6	17	38458232	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	132551	38458232	42736978	296	48226											
HAP1	9001	broad.mit.edu	37	chr17	39888482	39888482	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcctccccacccggttacCtcctccttggctgagcccag	7	20	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:39888482C>T	uc002hxm.1	-	3	726	c.714G>A	c.(712-714)GAG>GAA	p.E238E	JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Silent_p.E238E|HAP1_uc002hxo.1_Silent_p.E246E|HAP1_uc002hxp.1_Silent_p.E238E	NM_177977	NP_817084	P54257	HAP1_HUMAN	huntingtin-associated protein 1 isoform 2	238	HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			ovary(2)	2		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ACCCGGTTACCTCCTCCTTGG	0.602													T	39888482	C	T	39888482	2	4	66	1	0	0	0	0	0	0	0	1	6953	695	24	4		4	HAP1	17	39888482	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	1430250	39888482	41306728	297	48227											
HAP1	9001	broad.mit.edu	37	chr17	39890671	39890671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccttggctccagcctcCgaggccgggcgagctccggt	14	17	0	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:39890671C>T	uc002hxm.1	-	1	228	c.216G>A	c.(214-216)TCG>TCA	p.S72S	JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Silent_p.S72S|HAP1_uc002hxo.1_Silent_p.S72S|HAP1_uc002hxp.1_Silent_p.S72S	NM_177977	NP_817084	P54257	HAP1_HUMAN	huntingtin-associated protein 1 isoform 2	72					brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			ovary(2)	2		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CTCCAGCCTCCGAGGCCGGGC	0.697													T	39890671	C	T	39890671	2	4	66	1	0	0	0	0	0	0	0	1	6953	639	23	1		1	HAP1	17	39890671	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	2189	39890671	41304539	298	48228											
CNTNAP1	8506	broad.mit.edu	37	chr17	40842152	40842152	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcggctcagtgggaaaacTtctggaaacttcaccattga	9	9	3	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:40842152T>G	uc002iay.2	+	12	1998	c.1782T>G	c.(1780-1782)ACT>ACG	p.T594T	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	594	Extracellular (Potential).|Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GTGGGAAAACTTCTGGAAACT	0.468													G	40842152	T	G	40842152	2	3	66	1	0	0	0	0	0	0	0	1	3646	1596	56	5		5	CNTNAP1	17	40842152	Silent	SNP	T	TCGA-BR-8284-01A-11D-2340-08	951481	40842152	40353058	299	48229											
HOXB5	3215	broad.mit.edu	37	chr17	46669802	46669802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtccgggcccttttcccGtccggcccggtcatatctgg	13	16	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:46669802G>A	uc002inr.2	-	2	638	c.579C>T	c.(577-579)GAC>GAT	p.D193D	HOXB3_uc010wlm.1_5'Flank|HOXB3_uc010dbf.2_5'Flank|HOXB3_uc010dbg.2_5'Flank	NM_002147	NP_002138	P09067	HXB5_HUMAN	homeobox B5	193						nucleus	sequence-specific DNA binding				0						CCCTTTTCCCGTCCGGCCCGG	0.632													A	46669802	G	A	46669802	2	1	66	1	0	0	0	0	0	0	0	1	7304	1136	40	1		1	HOXB5	17	46669802	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	5827650	46669802	34525408	300	48230											
XYLT2	64132	broad.mit.edu	37	chr17	48434434	48434435	+	Frame_Shift_Ins	INS	-	-	T													taggtttgagcccaggggctINStgccgtccagcgtgcacctg							TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:48434433_48434434C>CT	uc002iqo.3	+	8	1870_1871	c.1761_1762C>CT	c.(1759-1764)ggcttgfs	p.G587fs	XYLT2_uc010dbo.3_Intron	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	587					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					AGCCCAGGGGCTTGCCGTCCAG	0.639													T	48434435	-	T	48434434	7	5	66	1	0	1	1	0	0	0	0	0	17461	1606	56	0	1796	0	XYLT2	17	48434434	Frame_Shift_Ins	INS	-	TCGA-BR-8284-01A-11D-2340-08	1764632	48434434	32760776	301	48231											
CACNA1G	8913	broad.mit.edu	37	chr17	48701418	48701418	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggacacaggggctgggggCtccccaaagctcagtcaggt	16	11	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:48701418C>A	uc002irk.1	+	36	6583	c.6211C>A	c.(6211-6213)CTC>ATC	p.L2071I	CACNA1G_uc002irj.1_Missense_Mutation_p.L1944I|CACNA1G_uc002irl.1_Missense_Mutation_p.L1955I|CACNA1G_uc002irm.1_Missense_Mutation_p.L1992I|CACNA1G_uc002irn.1_Missense_Mutation_p.L1937I|CACNA1G_uc002iro.1_Missense_Mutation_p.L1944I|CACNA1G_uc002irp.1_Missense_Mutation_p.L2026I|CACNA1G_uc002irq.1_Missense_Mutation_p.L2048I|CACNA1G_uc002irr.1_Missense_Mutation_p.L1978I|CACNA1G_uc002irs.1_Missense_Mutation_p.L2015I|CACNA1G_uc002irt.1_Missense_Mutation_p.L1960I|CACNA1G_uc002irv.1_Missense_Mutation_p.L1967I|CACNA1G_uc002irw.1_Missense_Mutation_p.L2000I|CACNA1G_uc002iru.1_Missense_Mutation_p.L2037I|CACNA1G_uc002irx.1_Missense_Mutation_p.L1891I|CACNA1G_uc002iry.1_Missense_Mutation_p.L1880I|CACNA1G_uc002irz.1_Missense_Mutation_p.L1884I|CACNA1G_uc002isa.1_Missense_Mutation_p.L1857I|CACNA1G_uc002isb.1_Missense_Mutation_p.L1898I|CACNA1G_uc002isc.1_Missense_Mutation_p.L1973I|CACNA1G_uc002isd.1_Missense_Mutation_p.L1866I|CACNA1G_uc002ise.1_Missense_Mutation_p.L1894I|CACNA1G_uc002isf.1_Missense_Mutation_p.L1921I|CACNA1G_uc002isg.1_Missense_Mutation_p.L1839I|CACNA1G_uc002ish.1_Missense_Mutation_p.L1846I|CACNA1G_uc002isi.1_Missense_Mutation_p.L1834I	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	2071	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGCTGGGGGCTCCCCAAAGC	0.617													A	48701418	C	A	48701418	3	1	66	1	0	0	0	0	1	0	0	0	2544	797	28	5	6620	5	CACNA1G	17	48701418	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	266984	48701418	32493792	302	48232											
KIF2B	84643	broad.mit.edu	37	chr17	51901324	51901324	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacgggaagtgggaagacGtacaccatgggtggagactt	16	7	0	3	rs139246128		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:51901324G>A	uc002iua.2	+	1	1086	c.930G>A	c.(928-930)ACG>ACA	p.T310T	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	310	ATP (By similarity).|Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						GTGGGAAGACGTACACCATGG	0.547													A	51901324	G	A	51901324	2	1	66	1	0	0	0	0	0	0	0	1	8298	1132	40	1		1	KIF2B	17	51901324	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	3199906	51901324	29293886	303	48233											
DGKE	8526	broad.mit.edu	37	chr17	54923170	54923170	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcttgttgaatccagtccaGgtaactaaagaaaaaaactt	6	7	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:54923170G>T	uc002iur.2	+	4	924	c.744G>T	c.(742-744)CAG>CAT	p.Q248H	DGKE_uc002ius.1_Missense_Mutation_p.Q248H	NM_003647	NP_003638	P52429	DGKE_HUMAN	diacylglycerol kinase epsilon	248	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(2)	2	Breast(9;3.59e-07)					ATCCAGTCCAGGTAACTAAAG	0.363													T	54923170	G	T	54923170	3	4	66	1	0	0	0	0	1	0	0	0	4468	1014	35	5	754	5	DGKE	17	54923170	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	3021846	54923170	26272040	304	48234											
EPX	8288	broad.mit.edu	37	chr17	56272519	56272519	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcccagctgcccccctgCtttcccatcaaggtacctac	7	19	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:56272519C>A	uc002ivq.2	+	6	875	c.789C>A	c.(787-789)TGC>TGA	p.C263*		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	263					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						TGCCCCCCTGCTTTCCCATCA	0.622													A	56272519	C	A	56272519	4	1	66	1	0	0	0	0	0	1	0	0	5200	805	28	5	811	5	EPX	17	56272519	Nonsense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	1349349	56272519	24922691	305	48235											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	66	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-BR-8284-01A-11D-2340-08	113865	56386384	24808826	306	48236											
TRIM47	91107	broad.mit.edu	37	chr17	73871176	73871176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggaacttgtctgctgtGtcgctgtccaaatccacaat	9	11	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:73871176G>A	uc002jpw.2	-	6	1332	c.1305C>T	c.(1303-1305)GAC>GAT	p.D435D	TRIM47_uc002jpv.2_Silent_p.D197D	NM_033452	NP_258411	Q96LD4	TRI47_HUMAN	tripartite motif-containing 47	435	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			ovary(2)|prostate(1)|lung(1)|breast(1)	5			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGTCTGCTGTGTCGCTGTCCA	0.572													A	73871176	G	A	73871176	2	1	66	1	0	0	0	0	0	0	0	1	16519	1368	48	4		4	TRIM47	17	73871176	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	17484792	73871176	7324034	307	48237											
MGAT5B	146664	broad.mit.edu	37	chr17	74878309	74878309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatggtgaagcgcatggaCgcactggccaggctggagaa	16	9	0	3	rs149427118		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:74878309C>T	uc002jtg.3	+	3	572	c.258C>T	c.(256-258)GAC>GAT	p.D86D	MGAT5B_uc002jth.2_Silent_p.D86D|MGAT5B_uc002jti.2_Silent_p.D97D			Q3V5L5	MGT5B_HUMAN	Homo sapiens GnT-IX mRNA for N-Acetylglucosaminyltransferase IX, complete cds.	86	Lumenal (Potential).					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(2)|skin(1)	3						AGCGCATGGACGCACTGGCCA	0.677													T	74878309	C	T	74878309	2	4	66	1	0	0	0	0	0	0	0	1	9549	535	19	1		1	MGAT5B	17	74878309	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	1007133	74878309	6316901	308	48238											
RNF213	57674	broad.mit.edu	37	chr17	78360611	78360611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggagggcagagagaccGtgcaggagttcgatctggag	19	6	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:78360611G>A	uc002jyh.1	+	38	9284	c.9061G>A	c.(9061-9063)GTG>ATG	p.V3021M	uc002jyi.1_Intron|RNF213_uc010dhx.1_Translation_Start_Site	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGAGAGACCGTGCAGGAGTT	0.587													A	78360611	G	A	78360611	3	1	66	1	0	0	0	0	1	0	0	0	13477	1145	40	1	15407	1	RNF213	17	78360611	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	3482302	78360611	2834599	309	48239											
RPTOR	57521	broad.mit.edu	37	chr17	78857671	78857671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagtgggtggccatctgcCtcggcaggatctggcagaac	15	12	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:78857671C>T	uc002jyt.1	+	16	2546	c.1741C>T	c.(1741-1743)CTC>TTC	p.L581F	RPTOR_uc010wug.1_Intron	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	581					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						GGCCATCTGCCTCGGCAGGAT	0.637													T	78857671	C	T	78857671	3	4	66	1	0	0	0	0	1	0	0	0	13665	681	24	4	1803	4	RPTOR	17	78857671	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	497060	78857671	2337539	310	48240											
FASN	2194	broad.mit.edu	37	chr17	80044363	80044363	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggtcccgggggatctgggCcccatccagtccgggcacca	16	15	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:80044363C>A	uc002kdu.2	-	22	3616	c.3499G>T	c.(3499-3501)GCC>TCC	p.A1167S	FASN_uc002kdw.1_Missense_Mutation_p.A383S	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	1167					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGGATCTGGGCCCCATCCAGT	0.682													A	80044363	C	A	80044363	3	1	66	1	0	0	0	0	1	0	0	0	5683	739	26	5	4124	5	FASN	17	80044363	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	1186692	80044363	1150847	311	48241											
CCDC57	284001	broad.mit.edu	37	chr17	80159471	80159471	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgccagctgctgctgctgcTgcagctcctccaccttcctg	9	17	0	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:80159471T>A	uc002kdz.1	-	3	705	c.350A>T	c.(349-351)CAG>CTG	p.Q117L	CCDC57_uc002kdx.1_Missense_Mutation_p.Q117L	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	117	Potential.									ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTGCTGCTGCTGCAGCTCCTC	0.662													A	80159471	T	A	80159471	3	1	66	1	0	0	0	0	1	0	0	0	2827	1580	55	5	2461	5	CCDC57	17	80159471	Missense_Mutation	SNP	T	TCGA-BR-8284-01A-11D-2340-08	115108	80159471	1035739	312	48242											
TBCD	6904	broad.mit.edu	37	chr17	80887103	80887103	+	Frame_Shift_Del	DEL	C	C	-													cactttgacagccctcccatCccccacgtgccccaccgagg							TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:80887102_80887102TC>T	uc002kfy.1	+	30	2937	c.2807_2807TC>T	c.(2806-2808)atcfs	p.I936fs	TBCD_uc002kfz.3_Frame_Shift_Del_p.I936fs|TBCD_uc002kgb.1_Frame_Shift_Del_p.I261fs|TBCD_uc002kgd.3_5'Flank	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	936					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			AGCCCTCCCATCCCCCACGTG	0.627													-	80887103	C	-	80887103	7	5	66	1	0	1	0	1	0	0	0	0	15630	845	30	0	2930	0	TBCD	17	80887103	Frame_Shift_Del	DEL	C	TCGA-BR-8284-01A-11D-2340-08	727632	80887103	308107	313	48243											
ANKRD29	147463	broad.mit.edu	37	chr18	21214092	21214092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccgtactgactggcagCcaacagggcggtgcccccgt	14	15	0	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr18:21214092C>T	uc002kun.2	-	5	509	c.352G>A	c.(352-354)GCT>ACT	p.A118T	ANKRD29_uc002kuo.2_Missense_Mutation_p.A118T	NM_173505	NP_775776	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	118	ANK 4.									ovary(3)|breast(1)	4	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGACTGGCAGCCAACAGGGCG	0.517													T	21214092	C	T	21214092	3	4	66	1	0	0	0	0	1	0	0	0	657	739	26	2	577	2	ANKRD29	18	21214092	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08		21214092	56863156	314	48244											
LAMA3	3909	broad.mit.edu	37	chr18	21407422	21407422	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcatggtggacctcagCgggagagaggtgggccagcc	17	11	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr18:21407422C>T	uc002kuq.2	+	23	2900	c.2814C>T	c.(2812-2814)AGC>AGT	p.S938S	LAMA3_uc002kur.2_Silent_p.S938S	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	938	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGACCTCAGCGGGAGAGAGG	0.522													T	21407422	C	T	21407422	2	4	66	1	0	0	0	0	0	0	0	1	8607	767	27	1		1	LAMA3	18	21407422	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	193330	21407422	56669826	315	48245											
ZNF521	25925	broad.mit.edu	37	chr18	22806394	22806394	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcaaatccatgagaacatcgGatgtgttcctgaagagtgtt	11	7	0	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr18:22806394G>T	uc002kvk.2	-	4	1735	c.1488C>A	c.(1486-1488)ATC>ATA	p.I496I	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.I496I|ZNF521_uc002kvl.2_Silent_p.I276I	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	496	C2H2-type 11.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAGAACATCGGATGTGTTCCT	0.463			T	PAX5	ALL								T	22806394	G	T	22806394	2	4	66	1	0	0	0	0	0	0	0	1	17962	1164	41	5		5	ZNF521	18	22806394	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	1398972	22806394	55270854	316	48246											
FHOD3	80206	broad.mit.edu	37	chr18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-													gcgatgagaccacggagccaCcccccagtgggtgccgggac							TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr18:34205515_34205515AC>A	uc021uiv.1	+	9	1096	c.999_999AC>A	c.(997-999)ccafs	p.P333fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzt.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P158fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P86fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	333	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCACGGAGCCACCCCCCAGTG	0.677													-	34205516	C	-	34205516	7	5	66	1	0	1	0	1	0	0	0	0	5883	507	18	0	1038	0	FHOD3	18	34205516	Frame_Shift_Del	DEL	C	TCGA-BR-8284-01A-11D-2340-08	11399122	34205516	43871732	317	48247											
DCC	1630	broad.mit.edu	37	chr18	51013255	51013255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtggatatccccacccGcagttcactctccggcctgt	8	17	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr18:51013255G>A	uc002lfe.1	+	26	4412	c.3825G>A	c.(3823-3825)CCG>CCA	p.P1275P	DCC_uc010dpf.1_Silent_p.P910P	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1275	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATCCCCACCCGCAGTTCACTC	0.537													A	51013255	G	A	51013255	2	1	66	1	0	0	0	0	0	0	0	1	4282	1074	38	1		1	DCC	18	51013255	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	16807739	51013255	27063993	318	48248											
SERPINB12	89777	broad.mit.edu	37	chr18	61223522	61223522	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccttggtatggtacgcTtgggtgctagaagtgacagt	14	8	0	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr18:61223522T>C	uc010xen.1	+	1	130	c.130T>C	c.(130-132)TTG>CTG	p.L44L	SERPINB12_uc010xeo.1_Silent_p.L44L	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	44					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity				0						TATGGTACGCTTGGGTGCTAG	0.458													C	61223522	T	C	61223522	2	2	66	1	0	0	0	0	0	0	0	1	14099	1606	56	3		3	SERPINB12	18	61223522	Silent	SNP	T	TCGA-BR-8284-01A-11D-2340-08	10210267	61223522	16853726	319	48249											
DSEL	92126	broad.mit.edu	37	chr18	65179723	65179723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacatgttcagtattattgAcattgagagaaatctgaagt	8	5	2	4			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr18:65179723A>G	uc002lke.1	-	2	3377	c.2153T>C	c.(2152-2154)GTC>GCC	p.V718A		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	708						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				AGTATTATTGACATTGAGAGA	0.373													G	65179723	A	G	65179723	3	3	66	1	0	0	0	0	1	0	0	0	4775	275	10	3	1519	3	DSEL	18	65179723	Missense_Mutation	SNP	A	TCGA-BR-8284-01A-11D-2340-08	3956201	65179723	12897525	320	48250											
CNDP2	55748	broad.mit.edu	37	chr18	72180886	72180886	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggagcacaagctgtacgacGacatcgactttgacatagag	11	9	0	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr18:72180886G>T	uc002llm.1	+	8	997	c.835G>T	c.(835-837)GAC>TAC	p.D279Y	CNDP2_uc002lln.1_Missense_Mutation_p.D195Y|CNDP2_uc010dqs.2_Intron	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2	279						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			ovary(2)|skin(1)	3		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GCTGTACGACGACATCGACTT	0.597													T	72180886	G	T	72180886	3	4	66	1	0	0	0	0	1	0	0	0	3594	1058	37	5	861	5	CNDP2	18	72180886	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	7001163	72180886	5896362	321	48251											
ZNF236	7776	broad.mit.edu	37	chr18	74620354	74620354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtagaccagcagagcatGcaggcctccactcaaatgca	9	13	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr18:74620354G>A	uc002lmi.2	+	14	2568	c.2370G>A	c.(2368-2370)ATG>ATA	p.M790I	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	790					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGCAGAGCATGCAGGCCTCCA	0.572													A	74620354	G	A	74620354	3	1	66	1	0	0	0	0	1	0	0	0	17786	1319	46	2	2424	2	ZNF236	18	74620354	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	2439468	74620354	3456894	322	48252											
POLR2E	5434	broad.mit.edu	37	chr19	1093981	1093981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtccgtgcgccgcggccGcccctcactcggcttgtccc	13	19	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:1093981G>A	uc002lre.3	-	2	231	c.154C>T	c.(154-156)CGG>TGG	p.R52W	POLR2E_uc010xgf.1_Intron	NM_002695	NP_002686	P19388	RPAB1_HUMAN	DNA directed RNA polymerase II polypeptide E	52					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCGCGGCCGCCCCTCACTC	0.647													A	1093981	G	A	1093981	3	1	66	1	0	0	0	0	1	0	0	0	12218	1086	38	1	502	1	POLR2E	19	1093981	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08		1093981	58035002	323	48253											
C3	718	broad.mit.edu	37	chr19	6707183	6707183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccttcttgcacgcctcgcCcagggagatgaaacgggtcc	12	14	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:6707183C>T	uc002mfm.2	-	17	2211	c.2149G>A	c.(2149-2151)GGC>AGC	p.G717S		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	717	Anaphylatoxin-like.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CACGCCTCGCCCAGGGAGATG	0.662													T	6707183	C	T	6707183	3	4	66	1	0	0	0	0	1	0	0	0	2204	623	22	4	2942	4	C3	19	6707183	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	5613202	6707183	52421800	324	48254											
MYO1F	4542	broad.mit.edu	37	chr19	8620596	8620596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttggcggcaatggcgtcttCggtgatctggggaagaagca	17	7	2	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:8620596C>T	uc002mkg.2	-	2	202	c.88G>A	c.(88-90)GAA>AAA	p.E30K	MYO1F_uc002mkh.2_Missense_Mutation_p.E30K|MYO1F_uc010xkf.1_Missense_Mutation_p.E30K	NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	30	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						ATGGCGTCTTCGGTGATCTGG	0.617													T	8620596	C	T	8620596	3	4	66	1	0	0	0	0	1	0	0	0	10073	893	31	1	3316	1	MYO1F	19	8620596	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	1913413	8620596	50508387	325	48255											
ADAMTS10	81794	broad.mit.edu	37	chr19	8651552	8651552	+	Frame_Shift_Del	DEL	G	G	-													tagaggcagacggtggggctGgggggtcccaggcagcccct							TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:8651551_8651551TG>T	uc002mkj.1	-	19	2568	c.2294_2294CA>A	c.(2293-2295)cagfs	p.Q765fs	ADAMTS10_uc002mki.1_Frame_Shift_Del_p.Q252fs|ADAMTS10_uc002mkk.1_Frame_Shift_Del_p.Q397fs	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	765	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACGGTGGGGCTGGGGGGTCCC	0.627											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	8651552	G	-	8651552	7	5	66	1	0	1	0	1	0	0	0	0	256	1357	47	0	1046	0	ADAMTS10	19	8651552	Frame_Shift_Del	DEL	G	TCGA-BR-8284-01A-11D-2340-08	30956	8651552	50477431	326	48256											
S1PR5	53637	broad.mit.edu	37	chr19	10625085	10625085	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atagcggccaggatgcccacGaaggcgagcacgcagaagag	15	11	0	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:10625085G>A	uc002mot.1	-	2	660	c.603C>T	c.(601-603)TTC>TTT	p.F201F	S1PR5_uc002mou.1_Silent_p.F201F	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN	endothelial differentiation, sphingolipid	201	Helical; Name=5; (By similarity).					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|pancreas(1)	2						GGATGCCCACGAAGGCGAGCA	0.682													A	10625085	G	A	10625085	2	1	66	1	0	0	0	0	0	0	0	1	13797	1049	37	1		1	S1PR5	19	10625085	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	1973533	10625085	48503898	327	48257											
NOTCH3	4854	broad.mit.edu	37	chr19	15281167	15281167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagcgcgtcctggcccaCgggttcccgccggcccttgt	13	19	0	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:15281167C>T	uc002nan.2	-	27	5165	c.5089G>A	c.(5089-5091)GTG>ATG	p.V1697M		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1697	Cytoplasmic (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCCTGGCCCACGGGTTCCCGC	0.667													T	15281167	C	T	15281167	3	4	66	1	0	0	0	0	1	0	0	0	10550	536	19	1	1904	1	NOTCH3	19	15281167	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	4656082	15281167	43847816	328	48258											
SLC5A5	6528	broad.mit.edu	37	chr19	17983472	17983472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctaccgcctgggcctcaCcagcacctacgaggtaccgg	10	17	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:17983472C>T	uc002nhr.3	+	1	691	c.344C>T	c.(343-345)ACC>ATC	p.T115I		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium iodide	115	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4						CTGGGCCTCACCAGCACCTAC	0.672													T	17983472	C	T	17983472	3	4	66	1	0	0	0	0	1	0	0	0	14668	507	18	4	346	4	SLC5A5	19	17983472	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	2702305	17983472	41145511	329	48259											
TSSK6	83983	broad.mit.edu	37	chr19	19625866	19625866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgatgatcgtgcaggtagCgcacggcgccggcgatctgc	17	11	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:19625866C>T	uc002nmr.2	-	1	604	c.371G>A	c.(370-372)CGC>CAC	p.R124H	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	124	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1						GTGCAGGTAGCGCACGGCGCC	0.682													T	19625866	C	T	19625866	3	4	66	1	0	0	0	0	1	0	0	0	16669	768	27	1	454	1	TSSK6	19	19625866	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	1642394	19625866	39503117	330	48260											
ZNF626	199777	broad.mit.edu	37	chr19	20807757	20807757	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacatttgtagggtttttctCcagtatgaattatcttatgt	7	6	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:20807757C>A	uc002npb.1	-	4	1076	c.926G>T	c.(925-927)GGA>GTA	p.G309V	ZNF626_uc002npc.1_Missense_Mutation_p.G233V	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						GGGTTTTTCTCCAGTATGAAT	0.368													A	20807757	C	A	20807757	3	1	66	1	0	0	0	0	1	0	0	0	18047	855	30	5	664	5	ZNF626	19	20807757	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	1181891	20807757	38321226	331	48261											
PLEKHF1	79156	broad.mit.edu	37	chr19	30165559	30165559	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtggagttctacgcctcgggGgtggcctggtctgccttcca	15	12	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:30165559G>C	uc002nsh.3	+	2	915	c.813G>C	c.(811-813)GGG>GGC	p.G271G	PLEKHF1_uc002nsi.3_Silent_p.G356G	NM_024310	NP_077286	Q96S99	PKHF1_HUMAN	apoptosis-inducing protein D	271					apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding				0	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			ACGCCTCGGGGGTGGCCTGGT	0.667													C	30165559	G	C	30165559	2	2	66	1	0	0	0	0	0	0	0	1	12066	1219	43	5		5	PLEKHF1	19	30165559	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	9357802	30165559	28963424	332	48262											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572746	38572746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccctcagcgagtgtgacGcggaggacgcgggggagccg	18	12	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:38572746G>A	uc002ohk.2	+	3	1050	c.541G>A	c.(541-543)GCG>ACG	p.A181T		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	181					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGAGTGTGACGCGGAGGACGC	0.736													A	38572746	G	A	38572746	3	1	66	1	0	0	0	0	1	0	0	0	14331	1087	38	1	543	1	SIPA1L3	19	38572746	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	8407187	38572746	20556237	333	48263											
GRIK5	2901	broad.mit.edu	37	chr19	42566769	42566769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgaaggtactgaaggcGgggtgtctcctcgggaccca	16	10	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:42566769G>A	uc002osj.1	-	4	414	c.379C>T	c.(379-381)CGC>TGC	p.R127C	GRIK5_uc010eib.1_Missense_Mutation_p.R46C	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	127	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	TACTGAAGGCGGGGTGTCTCC	0.612													A	42566769	G	A	42566769	3	1	66	1	0	0	0	0	1	0	0	0	6777	1116	39	1	2627	1	GRIK5	19	42566769	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	3994023	42566769	16562214	334	48264											
C19orf61	56006	broad.mit.edu	37	chr19	44237020	44237020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagctcttaccagttcttctCggtgaggatcgtgtgtgaca	12	9	3	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:44237020C>T	uc002oxj.2	-	13	1817	c.1474G>A	c.(1474-1476)GAG>AAG	p.E492K	C19orf61_uc002oxk.2_Missense_Mutation_p.E492K	NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN	SMG9 protein	492					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding				0		Prostate(69;0.0352)				CAGTTCTTCTCGGTGAGGATC	0.582													T	44237020	C	T	44237020	3	4	66	1	0	0	0	0	1	0	0	0	1943	893	31	1	96	1	C19orf61	19	44237020	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	1670251	44237020	14891963	335	48265											
TEAD2	8463	broad.mit.edu	37	chr19	49863201	49863201	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcaatgtctgggctccaCaccccctctgcatccgggcc	9	18	3	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:49863201C>T	uc002pnj.2	-	2	223	c.132G>A	c.(130-132)GTG>GTA	p.V44V	TEAD2_uc002png.2_Silent_p.V44V|TEAD2_uc002pnh.2_Silent_p.V44V|TEAD2_uc002pni.2_Silent_p.V44V|TEAD2_uc010yao.1_Intron|TEAD2_uc010emw.2_Silent_p.V44V	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	44	TEA.				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		CTGGGCTCCACACCCCCTCTG	0.632													T	49863201	C	T	49863201	2	4	66	1	0	0	0	0	0	0	0	1	15736	465	17	4		4	TEAD2	19	49863201	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	5626181	49863201	9265782	336	48266											
LRRC4B	94030	broad.mit.edu	37	chr19	51022587	51022587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcagcccgttgaaggcgCccacctcgatcttgcgcacc	12	16	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:51022587C>T	uc002pss.2	-	3	520	c.383G>A	c.(382-384)GGC>GAC	p.G128D		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	128	Extracellular (Potential).|LRR 2.					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTTGAAGGCGCCCACCTCGAT	0.627													T	51022587	C	T	51022587	3	4	66	1	0	0	0	0	1	0	0	0	9007	739	26	2	1762	2	LRRC4B	19	51022587	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	1159386	51022587	8106396	337	48267											
ZNF350	59348	broad.mit.edu	37	chr19	52469108	52469108	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgcttctctaattttcGtgttttctgatgcttgggac	9	7	2	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:52469108G>A	uc002pyd.2	-	5	826	c.598C>T	c.(598-600)CGA>TGA	p.R200*	uc002pyb.2_Intron|uc002pyc.2_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	200					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(1)	1		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TCTAATTTTCGTGTTTTCTGA	0.418													A	52469108	G	A	52469108	4	1	66	1	0	0	0	0	0	1	0	0	17860	1153	40	1	1004	1	ZNF350	19	52469108	Nonsense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	1446521	52469108	6659875	338	48268											
ZNF415	55786	broad.mit.edu	37	chr19	53612518	53612518	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatgaactctccaatgacgCgcaaggtttgatttttgact	9	8	1	4	rs142864555		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:53612518C>T	uc002qax.2	-	7	1273	c.924G>A	c.(922-924)GCG>GCA	p.A308A	ZNF415_uc002qat.2_Silent_p.A272A|ZNF415_uc002qaw.2_Silent_p.A260A|ZNF415_uc010yds.1_Silent_p.A260A|ZNF415_uc010ydt.1_Silent_p.A260A|ZNF415_uc002qau.2_Silent_p.A247A|ZNF415_uc002qav.2_Silent_p.A272A|ZNF415_uc002qba.2_Silent_p.A30A|ZNF415_uc002qay.2_Silent_p.A247A|ZNF415_uc002qaz.2_Silent_p.A308A	NR_028343		Q09FC8	ZN415_HUMAN	RecName: Full=Zinc finger protein 415;	308	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.0191)		TCCAATGACGCGCAAGGTTTG	0.423													T	53612518	C	T	53612518	2	4	66	1	0	0	0	0	0	0	0	1	17889	755	27	1		1	ZNF415	19	53612518	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	1143410	53612518	5516465	339	48269											
TFPT	29844	broad.mit.edu	37	chr19	54611352	54611352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcaccggggccagctctGgagtcagcgcatttcctgct	12	15	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:54611352G>A	uc010yej.1	-	5	1029	c.623C>T	c.(622-624)CCA>CTA	p.P208L		NM_013342	NP_037474	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner	208					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding				0	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					GGCCAGCTCTGGAGTCAGCGC	0.711			T	TCF3	pre-B ALL								A	54611352	G	A	54611352	3	1	66	1	0	0	0	0	1	0	0	0	15807	1348	47	4	146	4	TFPT	19	54611352	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	998834	54611352	4517631	340	48270											
ZIM3	114026	broad.mit.edu	37	chr19	57647341	57647341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaagtattttcttagatcCgtcacattctacacctttct	5	10	4	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:57647341C>T	uc002qnz.1	-	5	750	c.364G>A	c.(364-366)GGA>AGA	p.G122R		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCTTAGATCCGTCACATTCT	0.393													T	57647341	C	T	57647341	3	4	66	1	0	0	0	0	1	0	0	0	17682	661	23	1	1058	1	ZIM3	19	57647341	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	3035989	57647341	1481642	341	48271											
ZNF324B	388569	broad.mit.edu	37	chr19	58967763	58967763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagcccttcgtgtgcacGcagtgtggccgcgccttccg	14	14	0	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:58967763G>A	uc002qsv.1	+	4	1559	c.1452G>A	c.(1450-1452)ACG>ACA	p.T484T	ZNF324B_uc002qsu.1_Silent_p.T474T|ZNF324B_uc010euq.1_Silent_p.T484T	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	484	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCGTGTGCACGCAGTGTGGCC	0.672													A	58967763	G	A	58967763	2	1	66	1	0	0	0	0	0	0	0	1	17842	1074	38	1		1	ZNF324B	19	58967763	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	1320422	58967763	161220	342	48272											
SLC23A2	9962	broad.mit.edu	37	chr20	4880333	4880333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggaagggcactgcgatcGtgccgctgaagcatgtcagg	15	10	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr20:4880333G>A	uc002wlg.1	-	6	725	c.350C>T	c.(349-351)ACG>ATG	p.T117M	SLC23A2_uc010zqr.1_Missense_Mutation_p.T116M|SLC23A2_uc002wlh.1_Missense_Mutation_p.T117M|SLC23A2_uc002wli.2_Missense_Mutation_p.T116M	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	117	Helical; (Potential).				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2						CACTGCGATCGTGCCGCTGAA	0.517													A	4880333	G	A	4880333	3	1	66	1	0	0	0	0	1	0	0	0	14463	1145	40	1	1650	1	SLC23A2	20	4880333	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08		4880333	58145187	343	48273											
SNX5	27131	broad.mit.edu	37	chr20	17928170	17928170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgttcaaatttctggcaGcactcctgctggtgtgcctc	10	11	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr20:17928170G>A	uc002wqc.2	-	11	1124	c.1038C>T	c.(1036-1038)TGC>TGT	p.C346C	SNX5_uc002wqb.2_RNA|SNX5_uc002wqd.2_Silent_p.C346C|SNX5_uc002wqe.2_Silent_p.C241C|SNX5_uc010zrt.1_Silent_p.C346C	NM_014426	NP_055241	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	346	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			large_intestine(1)	1						ATTTCTGGCAGCACTCCTGCT	0.393													A	17928170	G	A	17928170	2	1	66	1	0	0	0	0	0	0	0	1	14905	963	34	2		2	SNX5	20	17928170	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	13047837	17928170	45097350	344	48274											
TMEM90B	79953	broad.mit.edu	37	chr20	24524112	24524112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcccaccaaagacagcctcGagtacccggatgggaagttc	11	14	0	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr20:24524112G>A	uc002wtw.1	+	2	1012	c.379G>A	c.(379-381)GAG>AAG	p.E127K		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	transmembrane protein 90B	127	Cytoplasmic (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane					0						AGACAGCCTCGAGTACCCGGA	0.597													A	24524112	G	A	24524112	3	1	66	1	0	0	0	0	1	0	0	0	16216	1059	37	1	381	1	TMEM90B	20	24524112	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	6595942	24524112	38501408	345	48275											
XKR7	343702	broad.mit.edu	37	chr20	30585189	30585189	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactggagtactcctcacctGccacgccccggttgcagtac	9	17	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr20:30585189G>T	uc002wxe.2	+	3	1843	c.1669G>T	c.(1669-1671)GCC>TCC	p.A557S		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	557						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTCCTCACCTGCCACGCCCCG	0.592													T	30585189	G	T	30585189	3	4	66	1	0	0	0	0	1	0	0	0	17433	1319	46	5	1679	5	XKR7	20	30585189	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	6061077	30585189	32440331	346	48276											
ZNF341	84905	broad.mit.edu	37	chr20	32344953	32344953	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgactgtgttgtcctcctaGgtgccaaaccagtgtgtgga	12	10	0	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr20:32344953G>T	uc002wzy.2	+	6	762	c.742_splice	c.e6-1	p.V248_splice	ZNF341_uc002wzx.2_Splice_Site_p.V248_splice|ZNF341_uc010geq.2_Splice_Site_p.V158_splice|ZNF341_uc010ger.2_Splice_Site	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TGTCCTCCTAGGTGCCAAACC	0.607													T	32344953	G	T	32344953	5	4	66	1	0	0	0	0	0	0	1	0	17854	1014	35	5	763	5	ZNF341	20	32344953	Splice_Site	SNP	G	TCGA-BR-8284-01A-11D-2340-08	1759764	32344953	30680567	347	48277											
PROCR	10544	broad.mit.edu	37	chr20	33764082	33764082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctttgtgagtttccggcCggagagagccttgtggcagg	15	10	0	2	rs144485700	byFrequency	TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr20:33764082C>T	uc002xbt.2	+	3	618	c.434C>T	c.(433-435)CCG>CTG	p.P145L	EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Missense_Mutation_p.P182L	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	endothelial protein C receptor precursor	145	Extracellular (Potential).				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity				0			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	AGTTTCCGGCCGGAGAGAGCC	0.597													T	33764082	C	T	33764082	3	4	66	1	0	0	0	0	1	0	0	0	12547	652	23	1	444	1	PROCR	20	33764082	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	1419129	33764082	29261438	348	48278											
MMP24	10893	broad.mit.edu	37	chr20	33842535	33842535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactccgatgagccatggacGctaggaaatgccaaccatga	11	11	0	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr20:33842535G>A	uc002xbu.2	+	4	798	c.795G>A	c.(793-795)ACG>ACA	p.T265T	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	matrix metalloproteinase 24 preproprotein	265	Extracellular (Potential).				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AGCCATGGACGCTAGGAAATG	0.562													A	33842535	G	A	33842535	2	1	66	1	0	0	0	0	0	0	0	1	9661	1074	38	1		1	MMP24	20	33842535	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	78453	33842535	29182985	349	48279											
CPNE1	8904	broad.mit.edu	37	chr20	34214684	34214684	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacgtgtggcttccacatcCgtcacagcaccatcagtcag	8	15	4	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr20:34214684C>T	uc002xdf.2	-	17	1641	c.1278G>A	c.(1276-1278)ACG>ACA	p.T426T	CPNE1_uc002xdc.2_Silent_p.T88T|CPNE1_uc010zvj.1_Silent_p.T431T|CPNE1_uc002xde.2_Silent_p.T402T|CPNE1_uc002xdg.2_Silent_p.T426T|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Silent_p.T426T|CPNE1_uc002xdi.2_Silent_p.T426T|CPNE1_uc002xdj.2_Silent_p.T426T|CPNE1_uc002xdk.2_Silent_p.T426T|CPNE1_uc002xdl.2_Silent_p.T426T|CPNE1_uc002xdm.2_Silent_p.T426T	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	426	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CTTCCACATCCGTCACAGCAC	0.557													T	34214684	C	T	34214684	2	4	66	1	0	0	0	0	0	0	0	1	3811	639	23	1		1	CPNE1	20	34214684	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	372149	34214684	28810836	350	48280											
ZHX3	23051	broad.mit.edu	37	chr20	39831076	39831076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctcgcttatagtcttcGtaccatttgagttggccgtt	9	10	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr20:39831076G>A	uc002xjs.1	-	3	2859	c.2481C>T	c.(2479-2481)TAC>TAT	p.Y827Y	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Silent_p.Y827Y|ZHX3_uc002xjt.1_Silent_p.Y827Y|ZHX3_uc002xju.1_Silent_p.Y827Y|ZHX3_uc002xjv.1_Silent_p.Y827Y|ZHX3_uc002xjw.1_Silent_p.Y827Y|ZHX3_uc010ggg.1_Silent_p.Y827Y	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	827					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				TATAGTCTTCGTACCATTTGA	0.557													A	39831076	G	A	39831076	2	1	66	1	0	0	0	0	0	0	0	1	17674	1140	40	1		1	ZHX3	20	39831076	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	5616392	39831076	23194444	351	48281											
R3HDML	140902	broad.mit.edu	37	chr20	42973989	42973989	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaacacctggcatcgggcGgcatacctggtctgcaacta	12	13	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr20:42973989G>A	uc002xls.1	+	4	772	c.600G>A	c.(598-600)GCG>GCA	p.A200A		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like precursor	200						extracellular region	peptidase inhibitor activity				0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GGCATCGGGCGGCATACCTGG	0.572													A	42973989	G	A	42973989	2	1	66	1	0	0	0	0	0	0	0	1	12889	1103	39	1		1	R3HDML	20	42973989	Silent	SNP	G	TCGA-BR-8284-01A-11D-2340-08	3142913	42973989	20051531	352	48282											
UCKL1	54963	broad.mit.edu	37	chr20	62571599	62571599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcataggccactgagtgcaCgcccatctctgccatgagca	10	14	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr20:62571599C>T	uc010gkn.2	-	14	1514	c.1471G>A	c.(1471-1473)GTG>ATG	p.V491M	UCKL1_uc002yhj.2_Missense_Mutation_p.V134M|UCKL1_uc011abm.1_Missense_Mutation_p.V476M|UCKL1_uc011abn.1_RNA	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	491					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ACTGAGTGCACGCCCATCTCT	0.557													T	62571599	C	T	62571599	3	4	66	1	0	0	0	0	1	0	0	0	16922	536	19	1	183	1	UCKL1	20	62571599	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	19597610	62571599	453921	353	48283											
CECR2	27443	broad.mit.edu	37	chr22	18028575	18028575	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctaccaccactatcagcgaActccttactatgcctgtcca	4	17	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr22:18028575A>G	uc010gqw.1	+	16	3658	c.3532A>G	c.(3532-3534)ACT>GCT	p.T1178A	CECR2_uc010gqv.1_Missense_Mutation_p.T1036A|CECR2_uc002zml.2_Missense_Mutation_p.T1037A|CECR2_uc002zmo.2_RNA	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1220					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		CTATCAGCGAACTCCTTACTA	0.602													G	18028575	A	G	18028575	3	3	66	1	0	0	0	0	1	0	0	0	3206	43	2	3	3596	3	CECR2	22	18028575	Missense_Mutation	SNP	A	TCGA-BR-8284-01A-11D-2340-08		18028575	33275991	354	48284											
DGCR8	54487	broad.mit.edu	37	chr22	20077195	20077195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtcttcctgtgcaggtcGtggccgcccacctacagagc	11	15	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr22:20077195G>A	uc002zri.2	+	4	1234	c.884G>A	c.(883-885)CGT>CAT	p.R295H	DGCR8_uc010grz.2_Missense_Mutation_p.R295H|DGCR8_uc002zrj.2_Translation_Start_Site	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	295	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with NCL.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					TGTGCAGGTCGTGGCCGCCCA	0.522													A	20077195	G	A	20077195	3	1	66	1	0	0	0	0	1	0	0	0	4464	1145	40	1	894	1	DGCR8	22	20077195	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	2048620	20077195	31227371	355	48285											
PI4KA	5297	broad.mit.edu	37	chr22	21075694	21075694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccacagaatatactcccGcacatagcccatctgcagga	7	15	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr22:21075694G>A	uc002zsz.3	-	43	5065	c.4834C>T	c.(4834-4836)CGG>TGG	p.R1612W	PI4KA_uc010gsp.2_Missense_Mutation_p.R5W|PI4KA_uc002zsy.3_Missense_Mutation_p.R422W	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	1612					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ATATACTCCCGCACATAGCCC	0.547													A	21075694	G	A	21075694	3	1	66	1	0	0	0	0	1	0	0	0	11873	1086	38	1	1352	1	PI4KA	22	21075694	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	998499	21075694	30228872	356	48286											
AP1B1	162	broad.mit.edu	37	chr22	29745311	29745311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatccagatcatggcagcccGggcctcaggctcatccaggg	12	14	3	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr22:29745311G>A	uc003afj.2	-	11	1517	c.1333C>T	c.(1333-1335)CGG>TGG	p.R445W	AP1B1_uc003afi.2_Missense_Mutation_p.R445W|AP1B1_uc003afk.2_Missense_Mutation_p.R445W|AP1B1_uc003afl.2_Missense_Mutation_p.R445W|AP1B1_uc011ako.1_5'UTR	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	445					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						ATGGCAGCCCGGGCCTCAGGC	0.587													A	29745311	G	A	29745311	3	1	66	1	0	0	0	0	1	0	0	0	731	1115	39	1	1568	1	AP1B1	22	29745311	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	8669617	29745311	21559255	357	48287											
DMC1	11144	broad.mit.edu	37	chr22	38935386	38935386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcatggtctacattaaagcGatcagcaatgtccctaaggc	8	10	3	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr22:38935386G>A	uc003avz.1	-	9	701	c.526C>T	c.(526-528)CGC>TGC	p.R176C	DMC1_uc011anv.1_Intron	NM_007068	NP_008999	Q14565	DMC1_HUMAN	DMC1 dosage suppressor of mck1 homolog	176					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			ovary(1)	1	Melanoma(58;0.0286)					ACATTAAAGCGATCAGCAATG	0.423								Homologous_recombination					A	38935386	G	A	38935386	3	1	66	1	0	0	0	0	1	0	0	0	4579	1058	37	1	520	1	DMC1	22	38935386	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	9190075	38935386	12369180	358	48288											
MGAT3	4248	broad.mit.edu	37	chr22	39884327	39884327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgagatcccggcccgtgaCggcgtccttttcctcaagct	11	15	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr22:39884327C>T	uc003axv.3	+	2	1214	c.975C>T	c.(973-975)GAC>GAT	p.D325D	MGAT3_uc010gxy.2_Silent_p.D325D	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	325	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					CGGCCCGTGACGGCGTCCTTT	0.647													T	39884327	C	T	39884327	2	4	66	1	0	0	0	0	0	0	0	1	9544	535	19	1		1	MGAT3	22	39884327	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	948941	39884327	11420239	359	48289											
MCHR1	2847	broad.mit.edu	37	chr22	41075595	41075595	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcgctggaggctgccgcAgcctgcgtgggtggagggga	21	10	0	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr22:41075595A>G	uc003ayz.2	+	1	414	c.146A>G	c.(145-147)CAG>CGG	p.Q49R	MCHR1_uc003aza.2_Intron	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	G protein-coupled receptor 24	49	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity				0						AGGCTGCCGCAGCCTGCGTGG	0.701													G	41075595	A	G	41075595	3	3	66	1	0	0	0	0	1	0	0	0	9382	188	7	3	148	3	MCHR1	22	41075595	Missense_Mutation	SNP	A	TCGA-BR-8284-01A-11D-2340-08	1191268	41075595	10228971	360	48290											
EFCAB6	64800	broad.mit.edu	37	chr22	44022428	44022428	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acactaagtctcaagccaagAaggccaaggaagcgctcaaa	9	11	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr22:44022428A>G	uc003bdy.1	-	20	2579	c.2364T>C	c.(2362-2364)CTT>CTC	p.L788L	EFCAB6_uc003bdz.1_Silent_p.L636L|EFCAB6_uc010gzi.1_Silent_p.L636L|EFCAB6_uc010gzj.1_Silent_p.L86L|EFCAB6_uc010gzk.1_RNA	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	788					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				TCAAGCCAAGAAGGCCAAGGA	0.438													G	44022428	A	G	44022428	2	3	66	1	0	0	0	0	0	0	0	1	4939	233	9	3		3	EFCAB6	22	44022428	Silent	SNP	A	TCGA-BR-8284-01A-11D-2340-08	2946833	44022428	7282138	361	48291											
CELSR1	9620	broad.mit.edu	37	chr22	46931227	46931227	+	Frame_Shift_Del	DEL	C	C	-													tcttaggcccagcgctgccgCcccccagaaaggtggaggcc							TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr22:46931226_46931226GC>G	uc003bhw.1	-	0	1842	c.1842_1842GC>C	c.(1840-1842)ggcfs	p.G614fs		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	614	Cadherin 4.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGCGCTGCCGCCCCCCAGAA	0.657													-	46931227	C	-	46931227	7	5	66	1	0	1	0	1	0	0	0	0	3221	739	26	0	7343	0	CELSR1	22	46931227	Frame_Shift_Del	DEL	C	TCGA-BR-8284-01A-11D-2340-08	2908799	46931227	4373339	362	48292											
PRKX	5613	broad.mit.edu	37	chrX	3573440	3573440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagaggaagcgctcgtcatGccacgtccagaacctgcggg	14	12	1	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:3573440G>A	uc010nde.2	-	3	716	c.349C>T	c.(349-351)CAT>TAT	p.H117Y		NM_005044	NP_005035	P51817	PRKX_HUMAN	protein kinase, X-linked	117	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			skin(2)|lung(1)	3		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CGCTCGTCATGCCACGTCCAG	0.657													A	3573440	G	A	3573440	3	1	66	1	0	0	0	0	1	0	0	0	12527	1319	46	2	751	2	PRKX	23	3573440	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08		3573440	151697120	363	48293											
DMD	1756	broad.mit.edu	37	chrX	31191669	31191669	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcatacctgctagcataatGttcaatgcgtgaatgagtat	8	8	2	2			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:31191669G>T	uc004dda.1	-	72	10559	c.10315C>A	c.(10315-10317)CAT>AAT	p.H3439N	DMD_uc004dcq.1_Missense_Mutation_p.H710N|DMD_uc004dcr.1_Intron|DMD_uc004dcs.1_Intron|DMD_uc004dct.1_Missense_Mutation_p.H979N|DMD_uc004dcu.1_Missense_Mutation_p.H979N|DMD_uc004dcv.1_Missense_Mutation_p.H966N|DMD_uc004dcw.2_Missense_Mutation_p.H2095N|DMD_uc004dcx.2_Missense_Mutation_p.H2098N|DMD_uc004dcz.2_Missense_Mutation_p.H3316N|DMD_uc004dcy.1_Missense_Mutation_p.H3435N|DMD_uc004ddb.1_Missense_Mutation_p.H3431N|DMD_uc004dcm.1_Missense_Mutation_p.H371N|DMD_uc004dcn.1_Missense_Mutation_p.H358N|DMD_uc004dco.1_Missense_Mutation_p.H371N|DMD_uc004dcp.1_Missense_Mutation_p.H358N|DMD_uc011mkb.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3439					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTAGCATAATGTTCAATGCGT	0.378													T	31191669	G	T	31191669	3	4	66	1	0	0	0	0	1	0	0	0	4580	1377	48	5	860	5	DMD	23	31191669	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	27618229	31191669	124078891	364	48294											
FAM47A	158724	broad.mit.edu	37	chrX	34149433	34149433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgggcggagactggacacCggagtcttgggaggctcctg	17	11	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:34149433C>T	uc004ddg.2	-	1	996	c.963G>A	c.(961-963)CCG>CCA	p.P321P		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	321										ovary(4)|central_nervous_system(1)	5						GACTGGACACCGGAGTCTTGG	0.612													T	34149433	C	T	34149433	2	4	66	1	0	0	0	0	0	0	0	1	5569	639	23	1		1	FAM47A	23	34149433	Silent	SNP	C	TCGA-BR-8284-01A-11D-2340-08	2957764	34149433	121121127	365	48295											
CDK16	5127	broad.mit.edu	37	chrX	47088011	47088011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattcagctacaaaaggaggCcagccttcggtcttcgtcga	11	11	2	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:47088011C>T	uc004dho.2	+	15	1817	c.1421C>T	c.(1420-1422)GCC>GTC	p.A474V	CDK16_uc011mli.1_Missense_Mutation_p.A480V|CDK16_uc011mlk.1_Missense_Mutation_p.A481V|CDK16_uc011mll.1_Missense_Mutation_p.A548V	NM_006201	NP_006192	Q00536	CDK16_HUMAN	PCTAIRE protein kinase 1 isoform 1	474							ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						CAAAAGGAGGCCAGCCTTCGG	0.537													T	47088011	C	T	47088011	3	4	66	1	0	0	0	0	1	0	0	0	3132	739	26	2	1717	2	CDK16	23	47088011	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	12938578	47088011	108182549	366	48296											
MSN	4478	broad.mit.edu	37	chrX	64947739	64947739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtaccaggacactaaaGgtttctccacctggctgaaa	9	11	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:64947739G>A	uc004dwf.2	+	3	358	c.160G>A	c.(160-162)GGT>AGT	p.G54S	MSN_uc010nkp.1_RNA	NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	54	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						GGACACTAAAGGTTTCTCCAC	0.378			T	ALK	ALCL								A	64947739	G	A	64947739	3	1	66	1	0	0	0	0	1	0	0	0	9885	1000	35	4	170	4	MSN	23	64947739	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	17859728	64947739	90322821	367	48297											
MSN	4478	broad.mit.edu	37	chrX	64959699	64959699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacaaatacaagaccctgCgccagatccggcagggcaac	11	13	0	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:64959699C>T	uc004dwf.2	+	13	1876	c.1678C>T	c.(1678-1680)CGC>TGC	p.R560C		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	560					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						CAAGACCCTGCGCCAGATCCG	0.542			T	ALK	ALCL								T	64959699	C	T	64959699	3	4	66	1	0	0	0	0	1	0	0	0	9885	768	27	1	1728	1	MSN	23	64959699	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	11960	64959699	90310861	368	48298											
HEPH	9843	broad.mit.edu	37	chrX	65476119	65476119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccatgggtcccaggatcCaggcagtattaacctacagg	10	12	0	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:65476119C>T	uc011moz.1	+	17	2912	c.2852C>T	c.(2851-2853)CCA>CTA	p.P951L	HEPH_uc004dwn.2_Missense_Mutation_p.P951L|HEPH_uc004dwo.2_Missense_Mutation_p.P681L|HEPH_uc010nkr.2_Missense_Mutation_p.P759L|HEPH_uc011mpa.1_Missense_Mutation_p.P951L|HEPH_uc010nks.2_Missense_Mutation_p.P240L	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	948	Extracellular (Potential).|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						TCCCAGGATCCAGGCAGTATT	0.408													T	65476119	C	T	65476119	3	4	66	1	0	0	0	0	1	0	0	0	7054	594	21	4	3071	4	HEPH	23	65476119	Missense_Mutation	SNP	C	TCGA-BR-8284-01A-11D-2340-08	516420	65476119	89794441	369	48299											
MAGEE1	57692	broad.mit.edu	37	chrX	75650837	75650837	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggcctggcaacaactttttGatgcaggtcctaagcttcat	9	10	1	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:75650837G>C	uc004ecm.1	+	1	2721	c.2514G>C	c.(2512-2514)TTG>TTC	p.L838F		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	838	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						ACAACTTTTTGATGCAGGTCC	0.502													C	75650837	G	C	75650837	3	2	66	1	0	0	0	0	1	0	0	0	9185	1281	45	5	2516	5	MAGEE1	23	75650837	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	10174718	75650837	79619723	370	48300											
ATP7A	538	broad.mit.edu	37	chrX	77245353	77245353	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatccatacgagtctcccTtgcaaatagcaatgggactg	8	10	1	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:77245353T>C	uc004ecx.3	+	4	1395	c.1235T>C	c.(1234-1236)CTT>CCT	p.L412P	ATP7A_uc004ecw.2_Missense_Mutation_p.L412P	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	412	HMA 4.|Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						CGAGTCTCCCTTGCAAATAGC	0.418													C	77245353	T	C	77245353	3	2	66	1	0	0	0	0	1	0	0	0	1190	1609	56	3	1245	3	ATP7A	23	77245353	Missense_Mutation	SNP	T	TCGA-BR-8284-01A-11D-2340-08	1594516	77245353	78025207	371	48301											
P2RY10	27334	broad.mit.edu	37	chrX	78216864	78216864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtcccgttgtccgaatcGcactgtatttccaccctttt	7	13	0	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:78216864G>A	uc004ede.2	+	4	1216	c.847G>A	c.(847-849)GCA>ACA	p.A283T	P2RY10_uc004edf.2_Missense_Mutation_p.A283T	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	283	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5						TGTCCGAATCGCACTGTATTT	0.413													A	78216864	G	A	78216864	3	1	66	1	0	0	0	0	1	0	0	0	11347	1087	38	1	849	1	P2RY10	23	78216864	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	971511	78216864	77053696	372	48302											
TBX22	50945	broad.mit.edu	37	chrX	79279618	79279618	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttggatccagggaagcagtAccatgtggccatcgatgtgg	15	8	0	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:79279618A>G	uc010nmg.1	+	4	547	c.413A>G	c.(412-414)TAC>TGC	p.Y138C	TBX22_uc004edi.1_Missense_Mutation_p.Y18C|TBX22_uc004edj.1_Missense_Mutation_p.Y138C	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	138	T-box.				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						GGGAAGCAGTACCATGTGGCC	0.507													G	79279618	A	G	79279618	3	3	66	1	0	0	0	0	1	0	0	0	15655	391	14	3	423	3	TBX22	23	79279618	Missense_Mutation	SNP	A	TCGA-BR-8284-01A-11D-2340-08	1062754	79279618	75990942	373	48303											
CPXCR1	53336	broad.mit.edu	37	chrX	88008424	88008424	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atagaacccaggatgagttaTcctactaaagaaggaagtga	10	6	0	4			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:88008424T>A	uc004efd.3	+	3	268	c.9T>A	c.(7-9)TAT>TAA	p.Y3*	CPXCR1_uc004efc.3_Nonsense_Mutation_p.Y3*	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	3						intracellular	zinc ion binding			ovary(3)	3						GGATGAGTTATCCTACTAAAG	0.353													A	88008424	T	A	88008424	4	1	66	1	0	0	0	0	0	1	0	0	3836	1442	50	5	11	5	CPXCR1	23	88008424	Nonsense_Mutation	SNP	T	TCGA-BR-8284-01A-11D-2340-08	8728806	88008424	67262136	374	48304											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177431	89177431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggatatgcttcaacagcGtagaaacgaccccatcattg	8	13	2	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:89177431G>A	uc004efe.2	+	2	396	c.347G>A	c.(346-348)CGT>CAT	p.R116H		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	116						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CTTCAACAGCGTAGAAACGAC	0.522													A	89177431	G	A	89177431	3	1	66	1	0	0	0	0	1	0	0	0	15824	1145	40	1	349	1	TGIF2LX	23	89177431	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	1169007	89177431	66093129	375	48305											
HTATSF1	27336	broad.mit.edu	37	chrX	135581814	135581814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcttctctaacgatggcGcatctagttctaccgcaaat	8	11	3	0			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:135581814G>A	uc004ezw.2	+	3	666	c.244G>A	c.(244-246)GCA>ACA	p.A82T	HTATSF1_uc004ezx.2_Missense_Mutation_p.A82T	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	82					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					TAACGATGGCGCATCTAGTTC	0.448													A	135581814	G	A	135581814	3	1	66	1	0	0	0	0	1	0	0	0	7433	1087	38	1	250	1	HTATSF1	23	135581814	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	46404383	135581814	19688746	376	48306											
FMR1	2332	broad.mit.edu	37	chrX	147026475	147026475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtcattagctccaacagagGaagagagggagagcttcctg	14	8	1	3			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:147026475G>A	uc010nst.2	+	15	1747	c.1558G>A	c.(1558-1560)GAA>AAA	p.E520K	FMR1_uc004fcj.2_Missense_Mutation_p.E497K|FMR1_uc004fck.3_Missense_Mutation_p.E474K|FMR1_uc004fcl.3_Missense_Mutation_p.E360K|FMR1_uc011mxa.1_Missense_Mutation_p.E167K	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	520	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAACAGAGGAAGAGAGGGA	0.373									Fragile_X_syndrome				A	147026475	G	A	147026475	3	1	66	1	0	0	0	0	1	0	0	0	5960	1175	41	4	1616	4	FMR1	23	147026475	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	11444661	147026475	8244085	377	48307											
ATP2B3	492	broad.mit.edu	37	chrX	152823642	152823642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacaacttcaccagcatcGtcaaggcagtcatgtggggc	11	11	3	1			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:152823642G>A	uc004fht.1	+	15	2632	c.2506G>A	c.(2506-2508)GTC>ATC	p.V836I	ATP2B3_uc004fhs.1_Missense_Mutation_p.V836I|ATP2B3_uc010nuf.1_5'Flank	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	836	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCAGCATCGTCAAGGCAGT	0.572													A	152823642	G	A	152823642	3	1	66	1	0	0	0	0	1	0	0	0	1141	1145	40	1	2564	1	ATP2B3	23	152823642	Missense_Mutation	SNP	G	TCGA-BR-8284-01A-11D-2340-08	5797167	152823642	2446918	378	48308											
NOC2L	26155	broad.mit.edu	37	chr1	889226	889226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccagcacgctgatgtgcCgcagcacggccgccaacacc	11	18	0	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:889226C>T	uc001abz.3	-	8	883	c.824G>A	c.(823-825)CGG>CAG	p.R275Q	NOC2L_uc001aby.3_Missense_Mutation_p.R72Q|NOC2L_uc009vjq.2_Missense_Mutation_p.R275Q	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	275						nucleolus	protein binding			ovary(1)|skin(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GCTGATGTGCCGCAGCACGGC	0.622													T	889226	C	T	889226	3	4	67	1	0	0	0	0	1	0	0	0	10513	652	23	1	1473	1	NOC2L	1	889226	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08		889226	248361395	1	48309											
KIF1B	23095	broad.mit.edu	37	chr1	10336421	10336421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgctgctctgagccccgCggatatcaactacgatgaga	12	11	2	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:10336421C>T	uc001aqx.3	+	12	1203	c.1001C>T	c.(1000-1002)GCG>GTG	p.A334V	KIF1B_uc001aqv.3_Missense_Mutation_p.A328V|KIF1B_uc001aqw.3_Missense_Mutation_p.A328V|KIF1B_uc001aqy.2_Missense_Mutation_p.A334V|KIF1B_uc001aqz.2_Missense_Mutation_p.A334V|KIF1B_uc001ara.2_Missense_Mutation_p.A334V|KIF1B_uc001arb.2_Missense_Mutation_p.A334V	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	334	Kinesin-motor.|Interaction with KBP.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CTGAGCCCCGCGGATATCAAC	0.398													T	10336421	C	T	10336421	3	4	67	1	0	0	0	0	1	0	0	0	8284	768	27	1	1021	1	KIF1B	1	10336421	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	9447195	10336421	238914200	2	48310											
MCOLN2	255231	broad.mit.edu	37	chr1	85431387	85431387	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaatcacgatgtgccattgCatttctgccacagaagatta	8	9	2	3			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:85431387C>A	uc001dkm.2	-	2	323	c.82G>T	c.(82-84)GCA>TCA	p.A28S	MCOLN2_uc001dkn.2_RNA	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	mucolipin 2	28						integral to membrane	ion channel activity			ovary(3)|upper_aerodigestive_tract(1)	4				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TGTGCCATTGCATTTCTGCCA	0.408													A	85431387	C	A	85431387	3	1	67	1	0	0	0	0	1	0	0	0	9396	710	25	5	1670	5	MCOLN2	1	85431387	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	75094966	85431387	163819234	3	48311											
COL11A1	1301	broad.mit.edu	37	chr1	103355063	103355063	+	Frame_Shift_Del	DEL	C	C	-													ttccagggagccctcggtcaCctttttccccttgttctcct							TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:103355062_103355062AC>A	uc001dum.3	-	58	4767	c.4449_4449GT>T	c.(4447-4449)ggtfs	p.G1483fs	COL11A1_uc001duk.3_Frame_Shift_Del_p.G667fs|COL11A1_uc001dul.3_Frame_Shift_Del_p.G1471fs|COL11A1_uc001dun.3_Frame_Shift_Del_p.G1432fs|COL11A1_uc009weh.3_Frame_Shift_Del_p.G1355fs	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1471	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCCTCGGTCACCTTTTTCCC	0.408													-	103355063	C	-	103355063	7	5	67	1	0	1	0	1	0	0	0	0	3667	507	18	0	1044	0	COL11A1	1	103355063	Frame_Shift_Del	DEL	C	TCGA-BR-8286-01A-12D-2340-08	17923676	103355063	145895558	4	48312											
CGN	57530	broad.mit.edu	37	chr1	151497219	151497219	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgagtagaggagcagctgAggctgcgggagcgggagttg	21	6	0	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:151497219A>G	uc009wmw.2	+	8	1615	c.1471A>G	c.(1471-1473)AGG>GGG	p.R491G		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	485	Glu-rich.|Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGAGCAGCTGAGGCTGCGGGA	0.587													G	151497219	A	G	151497219	3	3	67	1	0	0	0	0	1	0	0	0	3303	295	11	3	1497	3	CGN	1	151497219	Missense_Mutation	SNP	A	TCGA-BR-8286-01A-12D-2340-08	48142156	151497219	97753402	5	48313											
LCE1C	353133	broad.mit.edu	37	chr1	152777707	152777707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtggcagtgggacctaCggcgcctgtggtggctcagg	18	10	2	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:152777707C>T	uc001fap.1	-	2	299	c.248G>A	c.(247-249)CGT>CAT	p.R83H		NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	83	Gly-rich.				keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGGGACCTACGGCGCCTGTG	0.706													T	152777707	C	T	152777707	3	4	67	1	0	0	0	0	1	0	0	0	8661	536	19	1	112	1	LCE1C	1	152777707	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	1280488	152777707	96472914	6	48314											
NES	10763	broad.mit.edu	37	chr1	156645073	156645073	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgctgccgaccttccagGacctgagcgatctggctctg	12	14	2	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:156645073G>A	uc001fpq.2	-	2	976	c.843C>T	c.(841-843)GTC>GTT	p.V281V		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	281	Coil 2B.|Rod.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GACCTTCCAGGACCTGAGCGA	0.652													A	156645073	G	A	156645073	2	1	67	1	0	0	0	0	0	0	0	1	10337	1161	41	4		4	NES	1	156645073	Silent	SNP	G	TCGA-BR-8286-01A-12D-2340-08	3867366	156645073	92605548	7	48315											
CD5L	922	broad.mit.edu	37	chr1	157804319	157804319	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggctcagccagatgggtTttcggccataggcatgcttg	13	10	2	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:157804319T>C	uc001frk.3	-	4	739	c.596A>G	c.(595-597)AAA>AGA	p.K199R		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	199	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCAGATGGGTTTTCGGCCATA	0.582													C	157804319	T	C	157804319	3	2	67	1	0	0	0	0	1	0	0	0	3027	1841	64	3	459	3	CD5L	1	157804319	Missense_Mutation	SNP	T	TCGA-BR-8286-01A-12D-2340-08	1159246	157804319	91446302	8	48316											
CD5L	922	broad.mit.edu	37	chr1	157804432	157804432	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcctgtctggcacacGgtataccactggttctggtg	11	13	2	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:157804432G>A	uc001frk.3	-	4	626	c.483C>T	c.(481-483)ACC>ACT	p.T161T		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	161	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCTGGCACACGGTATACCACT	0.612													A	157804432	G	A	157804432	2	1	67	1	0	0	0	0	0	0	0	1	3027	1103	39	1		1	CD5L	1	157804432	Silent	SNP	G	TCGA-BR-8286-01A-12D-2340-08	113	157804432	91446189	9	48317											
TNR	7143	broad.mit.edu	37	chr1	175324675	175324675	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggatttgtaggtcaagacAtaattttcaatctctgccct	8	8	3	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:175324675A>G	uc001gkp.1	-	15	3294	c.3213T>C	c.(3211-3213)TAT>TAC	p.Y1071Y	TNR_uc009wwu.1_Silent_p.Y1071Y	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1071	Fibronectin type-III 9.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					AGGTCAAGACATAATTTTCAA	0.507													G	175324675	A	G	175324675	2	3	67	1	0	0	0	0	0	0	0	1	16335	224	8	3		3	TNR	1	175324675	Silent	SNP	A	TCGA-BR-8286-01A-12D-2340-08	17520243	175324675	73925946	10	48318											
ASTN1	460	broad.mit.edu	37	chr1	176903398	176903398	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcttcctggatgtaatggTtgccgaactggtccaacagc	11	10	0	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:176903398T>C	uc001glc.2	-	16	2773	c.2561A>G	c.(2560-2562)AAC>AGC	p.N854S	ASTN1_uc001glb.1_Missense_Mutation_p.N854S|ASTN1_uc001gld.1_Missense_Mutation_p.N854S	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	862					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						GATGTAATGGTTGCCGAACTG	0.542													C	176903398	T	C	176903398	3	2	67	1	0	0	0	0	1	0	0	0	1064	1725	60	3	1359	3	ASTN1	1	176903398	Missense_Mutation	SNP	T	TCGA-BR-8286-01A-12D-2340-08	1578723	176903398	72347223	11	48319											
CFH	3075	broad.mit.edu	37	chr1	196694307	196694307	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tagttcctgatcgcaagaaaGaccagtataaagttggagag	11	6	0	4			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:196694307G>A	uc001gtj.3	+	12	1993	c.1753G>A	c.(1753-1755)GAC>AAC	p.D585N		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	585	Sushi 10.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						TCGCAAGAAAGACCAGTATAA	0.353													A	196694307	G	A	196694307	3	1	67	1	0	0	0	0	1	0	0	0	3283	942	33	4	1817	4	CFH	1	196694307	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	19790909	196694307	52556314	12	48320											
SUSD4	55061	broad.mit.edu	37	chr1	223465898	223465898	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgtcttggcagtgaaatcGggctacagagccttcaaaga	11	10	2	3			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:223465898G>A	uc001hnx.2	-	2	878	c.244C>T	c.(244-246)CGA>TGA	p.R82*	SUSD4_uc001hny.3_Nonsense_Mutation_p.R82*|SUSD4_uc010puw.1_5'UTR|SUSD4_uc001hnz.2_Nonsense_Mutation_p.R82*|SUSD4_uc010pux.1_Intron	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	sushi domain containing 4 isoform a	82	Sushi 1.|Extracellular (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(131;0.0611)		CAGTGAAATCGGGCTACAGAG	0.512													A	223465898	G	A	223465898	4	1	67	1	0	0	0	0	0	1	0	0	15407	1124	39	1	1409	1	SUSD4	1	223465898	Nonsense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	26771591	223465898	25784723	13	48321											
OBSCN	84033	broad.mit.edu	37	chr1	228475397	228475397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtgcctgtctgcagcgCggccagtgcggttccaggag	16	13	1	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:228475397C>T	uc009xez.1	+	36	9591	c.9547C>T	c.(9547-9549)CGG>TGG	p.R3183W	OBSCN_uc001hsn.2_Missense_Mutation_p.R3183W|OBSCN_uc001hsq.1_Missense_Mutation_p.R439W	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3183	Ig-like 31.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GTCTGCAGCGCGGCCAGTGCG	0.657													T	228475397	C	T	228475397	3	4	67	1	0	0	0	0	1	0	0	0	10812	759	27	1	9685	1	OBSCN	1	228475397	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	5009499	228475397	20775224	14	48322											
PCNXL2	80003	broad.mit.edu	37	chr1	233393811	233393811	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcttcattctgctcagctgaGccattcagttgactggatgc	9	11	5	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:233393811G>C	uc001hvl.2	-	5	2032	c.1797C>G	c.(1795-1797)GGC>GGG	p.G599G	PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	599						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				GCTCAGCTGAGCCATTCAGTT	0.443													C	233393811	G	C	233393811	2	2	67	1	0	0	0	0	0	0	0	1	11592	958	34	5		5	PCNXL2	1	233393811	Silent	SNP	G	TCGA-BR-8286-01A-12D-2340-08	4918414	233393811	15856810	15	48323											
OR14C36	127066	broad.mit.edu	37	chr1	248512867	248512867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaggccacctgcgatacCtgcagccacccaggatctga	9	17	2	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:248512867C>T	uc010pzl.1	+	1	791	c.791C>T	c.(790-792)CCT>CTT	p.P264L		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CCTGCGATACCTGCAGCCACC	0.463													T	248512867	C	T	248512867	3	4	67	1	0	0	0	0	1	0	0	0	10946	681	24	4	793	4	OR14C36	1	248512867	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	15119056	248512867	737754	16	48324											
TPO	7173	broad.mit.edu	37	chr2	1499847	1499847	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctcgggtcatctgtgacaAcactggcctcaccagggtgc	12	13	4	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:1499847A>C	uc002qww.2	+	12	2184	c.2093A>C	c.(2092-2094)AAC>ACC	p.N698T	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.N641T|TPO_uc002qwr.2_Missense_Mutation_p.N698T|TPO_uc002qwx.2_Missense_Mutation_p.N641T|TPO_uc010yio.1_Missense_Mutation_p.N525T|TPO_uc010yip.1_Missense_Mutation_p.N698T|TPO_uc002qwy.1_Missense_Mutation_p.N38T|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	698	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ATCTGTGACAACACTGGCCTC	0.567													C	1499847	A	C	1499847	3	2	67	1	0	0	0	0	1	0	0	0	16407	43	2	5	2135	5	TPO	2	1499847	Missense_Mutation	SNP	A	TCGA-BR-8286-01A-12D-2340-08		1499847	241699526	17	48325											
TPO	7173	broad.mit.edu	37	chr2	1500483	1500483	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggtatgagctccaaggccggGagcagctcacttgcacccag	13	13	1	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:1500483G>C	uc002qww.2	+	13	2423	c.2332G>C	c.(2332-2334)GAG>CAG	p.E778Q	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.E721Q|TPO_uc002qwr.2_Missense_Mutation_p.E778Q|TPO_uc002qwx.2_Missense_Mutation_p.E721Q|TPO_uc010yio.1_Missense_Mutation_p.E605Q|TPO_uc010yip.1_Missense_Mutation_p.E778Q|TPO_uc002qwy.1_Missense_Mutation_p.E118Q|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	778	Extracellular (Potential).|Sushi.				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCAAGGCCGGGAGCAGCTCAC	0.552													C	1500483	G	C	1500483	3	2	67	1	0	0	0	0	1	0	0	0	16407	1175	41	5	2378	5	TPO	2	1500483	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	636	1500483	241698890	18	48326											
GREB1	9687	broad.mit.edu	37	chr2	11725893	11725893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgggtgttcctagagagcGcaggcatgtcctgcgtgccg	15	11	0	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:11725893G>A	uc002rbk.1	+	9	1321	c.1021G>A	c.(1021-1023)GCA>ACA	p.A341T	GREB1_uc002rbl.2_Missense_Mutation_p.A341T|GREB1_uc002rbn.1_Missense_Mutation_p.A341T|GREB1_uc002rbo.1_5'Flank	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	341						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCTAGAGAGCGCAGGCATGTC	0.532													A	11725893	G	A	11725893	3	1	67	1	0	0	0	0	1	0	0	0	6760	1087	38	1	1051	1	GREB1	2	11725893	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	10225410	11725893	231473480	19	48327											
PUM2	23369	broad.mit.edu	37	chr2	20463105	20463105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attataccgaagccgggaagGaggaaagagctggctgctgg	16	7	0	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:20463105G>A	uc002rds.1	-	13	2097	c.2074C>T	c.(2074-2076)CCT>TCT	p.P692S	PUM2_uc002rdq.1_Missense_Mutation_p.P69S|PUM2_uc002rdt.1_Missense_Mutation_p.P692S|PUM2_uc002rdr.2_Missense_Mutation_p.P552S|PUM2_uc010yjy.1_Missense_Mutation_p.P613S|PUM2_uc002rdu.1_Missense_Mutation_p.P692S|PUM2_uc010yjz.1_Missense_Mutation_p.P631S	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	692					regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCCGGGAAGGAGGAAAGAGC	0.463													A	20463105	G	A	20463105	3	1	67	1	0	0	0	0	1	0	0	0	12826	1174	41	4	1152	4	PUM2	2	20463105	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	8737212	20463105	222736268	20	48328											
ALK	238	broad.mit.edu	37	chr2	29551215	29551215	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcagccccatctactcaCggcacatctggctctcatct	9	16	5	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:29551215C>T	uc002rmy.2	-	6	2321	c.1414_splice	c.e6+1	p.R472_splice		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor						protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CATCTACTCACGGCACATCTG	0.592			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				T	29551215	C	T	29551215	5	4	67	1	0	0	0	0	0	0	1	0	525	550	19	1	3543	1	ALK	2	29551215	Splice_Site	SNP	C	TCGA-BR-8286-01A-12D-2340-08	9088110	29551215	213648158	21	48329											
THADA	63892	broad.mit.edu	37	chr2	43800003	43800003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattcttgcatcagacacgaGgttctcccaggtatcagttg	9	10	4	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:43800003G>A	uc002rsw.3	-	12	2210	c.1858C>T	c.(1858-1860)CTC>TTC	p.L620F	THADA_uc010far.2_5'Flank|THADA_uc002rsx.3_Missense_Mutation_p.L620F|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.L330F|THADA_uc010fat.1_5'Flank|THADA_uc002rta.2_Missense_Mutation_p.L330F|THADA_uc002rtb.1_Missense_Mutation_p.L620F|THADA_uc002rtc.3_Missense_Mutation_p.L620F|THADA_uc002rtd.2_Missense_Mutation_p.L620F	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	620							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCAGACACGAGGTTCTCCCAG	0.443													A	43800003	G	A	43800003	3	1	67	1	0	0	0	0	1	0	0	0	15837	1000	35	4	4111	4	THADA	2	43800003	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	14248788	43800003	199399370	22	48330											
SPTBN1	6711	broad.mit.edu	37	chr2	54851961	54851961	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggaaagactggaaaaAgcggaacacgaaagagaact	13	7	0	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:54851961A>C	uc002rxu.2	+	11	1452	c.1203A>C	c.(1201-1203)AAA>AAC	p.K401N	SPTBN1_uc002rxv.1_Missense_Mutation_p.K401N|SPTBN1_uc002rxx.2_Missense_Mutation_p.K388N	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	401	Spectrin 2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			GACTGGAAAAAGCGGAACACG	0.473													C	54851961	A	C	54851961	3	2	67	1	0	0	0	0	1	0	0	0	15118	69	3	5	1354	5	SPTBN1	2	54851961	Missense_Mutation	SNP	A	TCGA-BR-8286-01A-12D-2340-08	11051958	54851961	188347412	23	48331											
ETAA1	54465	broad.mit.edu	37	chr2	67632028	67632028	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccacaaatttgactatGtattctaagatctcaaactg	7	8	2	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:67632028G>T	uc002sdz.1	+	5	2353	c.2214G>T	c.(2212-2214)ATG>ATT	p.M738I		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	ETAA16 protein	738						cytoplasm|nucleus				ovary(3)|large_intestine(1)	4						ATTTGACTATGTATTCTAAGA	0.343													T	67632028	G	T	67632028	3	4	67	1	0	0	0	0	1	0	0	0	5267	1377	48	5	2232	5	ETAA1	2	67632028	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	12780067	67632028	175567345	24	48332											
WBP1	23559	broad.mit.edu	37	chr2	74687410	74687411	+	Frame_Shift_Ins	INS	-	-	C													tcaccgcccaggcacaccacINScccccccttatactgtggcc							TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:74687409_74687410A>AC	uc002slj.2	+	3	614_615	c.411_412A>AC	c.(409-414)ccacccfs	p.P137fs	INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002sll.2_Non-coding_Transcript	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	Homo sapiens WW domain binding protein 1 (WBP1), mRNA.	137							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CAGGCACACCACCCCCCCCTTA	0.584													C	74687411	-	C	74687410	7	5	67	1	0	1	1	0	0	0	0	0	17254	507	18	0	426	0	WBP1	2	74687410	Frame_Shift_Ins	INS	-	TCGA-BR-8286-01A-12D-2340-08	7055382	74687410	168511963	25	48333											
INPP4A	3631	broad.mit.edu	37	chr2	99182628	99182628	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgagcagcagacactggccGagaggtgcgtgccggctcct	15	12	0	3			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:99182628G>T	uc002syy.2	+	22	2824	c.2431G>T	c.(2431-2433)GAG>TAG	p.E811*	INPP4A_uc010yvj.1_Nonsense_Mutation_p.E772*|INPP4A_uc010yvk.1_Nonsense_Mutation_p.E772*|INPP4A_uc002syx.2_Nonsense_Mutation_p.E806*|INPP4A_uc010fik.2_Nonsense_Mutation_p.E140*	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type 1	811					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			kidney(1)	1						GACACTGGCCGAGAGGTGCGT	0.622													T	99182628	G	T	99182628	4	4	67	1	0	0	0	0	0	1	0	0	7752	1059	37	5	2509	5	INPP4A	2	99182628	Nonsense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	24495218	99182628	144016745	26	48334											
SLC4A10	57282	broad.mit.edu	37	chr2	162719565	162719566	+	Frame_Shift_Ins	INS	-	-	A													cagaaccaaattccatggacINSaaaaatggtaaatgtttatt							TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:162719565_162719566insA	uc002ubx.3	+	6	943_944	c.759_760insA	c.(757-762)GACAAAfs	p.D253fs	SLC4A10_uc010fpa.1_Frame_Shift_Ins_p.D265fs|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Frame_Shift_Ins_p.D253fs|SLC4A10_uc010zcs.1_Frame_Shift_Ins_p.D264fs	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	253_254	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						ATTCCATGGACAAAAATGGTAA	0.332													A	162719566	-	A	162719565	7	5	67	1	0	1	1	0	0	0	0	0	14651	477	17	0	866	0	SLC4A10	2	162719565	Frame_Shift_Ins	INS	-	TCGA-BR-8286-01A-12D-2340-08	63536937	162719565	80479808	27	48335	184	2									
SLC4A10	57282	broad.mit.edu	37	chr2	162719566	162719567	+	Frame_Shift_Ins	INS	-	-	A													agaaccaaattccatggacaINSaaaatggtaaatgtttattt							TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:162719565_162719566C>CA	uc002ubx.4	+	5	943_944	c.759_760C>CA	c.(757-762)gacaaafs	p.D253fs	SLC4A10_uc010fpa.1_Frame_Shift_Ins_p.D265fs|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Frame_Shift_Ins_p.D264fs|SLC4A10_uc002uby.4_Frame_Shift_Ins_p.D253fs	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	253					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATTCCATGGACAAAAATGGTAA	0.332													A	162719567	-	A	162719566	7	5	67	1	0	1	1	0	0	0	0	0	14651	131	5	0	867	0	SLC4A10	2	162719566	Frame_Shift_Ins	INS	-	TCGA-BR-8286-01A-12D-2340-08	1	162719566	80479807	28	48336	184	2									
TTN	7273	broad.mit.edu	37	chr2	179452836	179452836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttggtctcatttccacaaCatatccaatgatcggtgcac	6	11	1	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:179452836C>T	uc010zfg.1	-	254	55818	c.55594G>A	c.(55594-55596)GTT>ATT	p.V18532I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V12227I|TTN_uc010zfi.1_Missense_Mutation_p.V12160I|TTN_uc010zfj.1_Missense_Mutation_p.V12035I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19459							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCCACAACATATCCAATG	0.453													T	179452836	C	T	179452836	3	4	67	1	0	0	0	0	1	0	0	0	16732	478	17	4	44913	4	TTN	2	179452836	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	16733270	179452836	63746537	29	48337											
TTN	7273	broad.mit.edu	37	chr2	179604777	179604777	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcagatttgaattttcaGgtttaatctctgctcttctg	8	9	4	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:179604777G>A	uc010zfh.1	-	46	12894	c.12670C>T	c.(12670-12672)CTG>TTG	p.L4224L	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.L4157L|TTN_uc010zfj.1_Silent_p.L4032L|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	4152							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAATTTTCAGGTTTAATCTC	0.483													A	179604777	G	A	179604777	2	1	67	1	0	0	0	0	0	0	0	1	16732	991	35	4		4	TTN	2	179604777	Silent	SNP	G	TCGA-BR-8286-01A-12D-2340-08	151941	179604777	63594596	30	48338											
ZNF804A	91752	broad.mit.edu	37	chr2	185801900	185801900	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgaatactggttccataaaAgtagaagaaagaaaaaaaga	8	3	0	5	rs113810390		TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:185801900A>T	uc002uph.2	+	4	2371	c.1777A>T	c.(1777-1779)AGT>TGT	p.S593C		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	593						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						GTTCCATAAAAGTAGAAGAAA	0.303													T	185801900	A	T	185801900	3	4	67	1	0	0	0	0	1	0	0	0	18167	72	3	5	1791	5	ZNF804A	2	185801900	Missense_Mutation	SNP	A	TCGA-BR-8286-01A-12D-2340-08	6197123	185801900	57397473	31	48339											
COL5A2	1290	broad.mit.edu	37	chr2	189915305	189915305	+	Frame_Shift_Del	DEL	G	G	-													agctactcaccgctgggcctGgtaggccgggcatgcctctc							TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:189915305delG	uc002uqk.2	-	43	3304	c.3029delC	c.(3028-3030)CCAfs	p.P1010fs	COL5A2_uc010frx.2_Frame_Shift_Del_p.P586fs	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1010					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CGCTGGGCCTGGTAGGCCGGG	0.493													-	189915305	G	-	189915305	7	5	67	1	0	1	0	1	0	0	0	0	3697	1348	47	0	1518	0	COL5A2	2	189915305	Frame_Shift_Del	DEL	G	TCGA-BR-8286-01A-12D-2340-08	4113405	189915305	53284068	32	48340											
ABCA12	26154	broad.mit.edu	37	chr2	215812220	215812220	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtgccataactgcacaTagaggtagctctgtccttga	9	9	1	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:215812220T>A	uc002vew.2	-	48	7385	c.7165A>T	c.(7165-7167)ATG>TTG	p.M2389L	ABCA12_uc002vev.2_Missense_Mutation_p.M2071L|ABCA12_uc010zjn.1_Missense_Mutation_p.M1316L	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	2389	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAACTGCACATAGAGGTAGCT	0.433													A	215812220	T	A	215812220	3	1	67	1	0	0	0	0	1	0	0	0	30	1406	49	5	646	5	ABCA12	2	215812220	Missense_Mutation	SNP	T	TCGA-BR-8286-01A-12D-2340-08	25896915	215812220	27387153	33	48341											
PTPRN	5798	broad.mit.edu	37	chr2	220164507	220164507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcagccaggctcagggGcctggagatgggagaaggca	17	10	1	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:220164507G>A	uc002vkz.2	-	10	1527	c.1438C>T	c.(1438-1440)CCC>TCC	p.P480S	PTPRN_uc010zlc.1_Missense_Mutation_p.P390S|PTPRN_uc002vla.2_Intron	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	480	Extracellular (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGGCTCAGGGGCCTGGAGATG	0.572													A	220164507	G	A	220164507	3	1	67	1	0	0	0	0	1	0	0	0	12807	1217	42	2	1557	2	PTPRN	2	220164507	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	4352287	220164507	23034866	34	48342											
KIF1A	547	broad.mit.edu	37	chr2	241726728	241726728	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccgagagaagaggtcctcGcagagctgcaggaatggggg	17	8	0	3			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:241726728G>A	uc002vzy.2	-	5	515	c.369C>T	c.(367-369)TGC>TGT	p.C123C	KIF1A_uc010fzk.2_Silent_p.C123C|KIF1A_uc002vzz.1_Silent_p.C123C	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	123	Kinesin-motor.				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)		AGAGGTCCTCGCAGAGCTGCA	0.667													A	241726728	G	A	241726728	2	1	67	1	0	0	0	0	0	0	0	1	8283	1079	38	1		1	KIF1A	2	241726728	Silent	SNP	G	TCGA-BR-8286-01A-12D-2340-08	21562221	241726728	1472645	35	48343											
TMEM111	55831	broad.mit.edu	37	chr3	10018730	10018730	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataatattttcgtgtcaagAaagactagtaaaaaaaaaaa	5	3	1	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:10018730A>G	uc003bun.2	-	3	397	c.218T>C	c.(217-219)TTC>TCC	p.F73S	CIDEC_uc003bto.2_Intron|TMEM111_uc003buo.2_Missense_Mutation_p.F73S	NM_018447	NP_060917	Q9P0I2	TM111_HUMAN	transmembrane protein 111	73						integral to membrane					0						TCGTGTCAAGAAAGACTAGTA	0.353													G	10018730	A	G	10018730	3	3	67	1	0	0	0	0	1	0	0	0	16025	246	9	3	591	3	TMEM111	3	10018730	Missense_Mutation	SNP	A	TCGA-BR-8286-01A-12D-2340-08		10018730	188003700	36	48344											
VILL	50853	broad.mit.edu	37	chr3	38047335	38047335	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaaggaggcggtggcctGgggccaggagtacctgaaga	20	7	0	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:38047335G>A	uc003chj.2	+	17	2289	c.2003G>A	c.(2002-2004)TGG>TAG	p.W668*	VILL_uc003chl.2_Nonsense_Mutation_p.W668*	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	668					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCGGTGGCCTGGGGCCAGGAG	0.647													A	38047335	G	A	38047335	4	1	67	1	0	0	0	0	0	1	0	0	17162	1357	47	4	2065	4	VILL	3	38047335	Nonsense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	28028605	38047335	159975095	37	48345											
SCN11A	11280	broad.mit.edu	37	chr3	38888324	38888324	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtcaccttcatcatgtacTttcgaaaggccttttgaata	7	9	3	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:38888324T>G	uc011ays.1	-	26	5436	c.5237A>C	c.(5236-5238)AAG>ACG	p.K1746T		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1746					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CATCATGTACTTTCGAAAGGC	0.378													G	38888324	T	G	38888324	3	3	67	1	0	0	0	0	1	0	0	0	13913	1609	56	5	142	5	SCN11A	3	38888324	Missense_Mutation	SNP	T	TCGA-BR-8286-01A-12D-2340-08	840989	38888324	159134106	38	48346											
PRSS45	377047	broad.mit.edu	37	chr3	46784042	46784042	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaatccatctgccctcaActtcacaagccaatggccct	5	17	3	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:46784042A>C	uc010hjl.2	-	4	485	c.485T>G	c.(484-486)GTT>GGT	p.V162G	PRSS45_uc011bam.1_RNA	NM_199183	NP_954652	Q7RTY3	PRS45_HUMAN	testis serine protease 5	194	Peptidase S1.				proteolysis		serine-type endopeptidase activity				0						TCTGCCCTCAACTTCACAAGC	0.572													C	46784042	A	C	46784042	3	2	67	1	0	0	0	0	1	0	0	0	12629	43	2	5	205	5	PRSS45	3	46784042	Missense_Mutation	SNP	A	TCGA-BR-8286-01A-12D-2340-08	7895718	46784042	151238388	39	48347											
DALRD3	55152	broad.mit.edu	37	chr3	49055175	49055175	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attagcagaggtaagttcttCaagggcgtggctcctcaggg	14	8	3	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:49055175C>T	uc003cvk.1	-	3	609	c.589G>A	c.(589-591)GAA>AAA	p.E197K	DALRD3_uc003cvl.1_Missense_Mutation_p.E197K|DALRD3_uc003cvm.1_Missense_Mutation_p.E30K|DALRD3_uc010hko.1_Missense_Mutation_p.E30K|DALRD3_uc011bca.1_Missense_Mutation_p.E197K|NDUFAF3_uc003cvn.2_5'Flank	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	197					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTAAGTTCTTCAAGGGCGTGG	0.622													T	49055175	C	T	49055175	3	4	67	1	0	0	0	0	1	0	0	0	4229	835	29	4	1082	4	DALRD3	3	49055175	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	2271133	49055175	148967255	40	48348											
CACNA1D	776	broad.mit.edu	37	chr3	53835248	53835248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttcctccagcaggaaattCggtgtgtcataaccatcata	8	10	2	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:53835248C>T	uc003dgv.3	+	42	5367	c.5204C>T	c.(5203-5205)TCG>TTG	p.S1735L	CACNA1D_uc003dgu.3_Missense_Mutation_p.S1755L|CACNA1D_uc003dgy.3_Missense_Mutation_p.S1720L|CACNA1D_uc003dgw.3_Missense_Mutation_p.S1402L|CACNA1D_uc011bes.1_RNA	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1735	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCAGGAAATTCGGTGTGTCAT	0.468													T	53835248	C	T	53835248	3	4	67	1	0	0	0	0	1	0	0	0	2541	893	31	1	5542	1	CACNA1D	3	53835248	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	4780073	53835248	144187182	41	48349											
ARL13B	200894	broad.mit.edu	37	chr3	93768349	93768349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgagagtccaacgccacCcccaccccctcctcctggtg	7	21	0	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:93768349C>T	uc003drc.2	+	8	1410	c.1124C>T	c.(1123-1125)CCC>CTC	p.P375L	ARL13B_uc010hop.2_Missense_Mutation_p.P226L|ARL13B_uc003drd.2_Missense_Mutation_p.P268L|ARL13B_uc003dre.2_Missense_Mutation_p.P360L|ARL13B_uc003drf.2_Missense_Mutation_p.P375L|ARL13B_uc003drg.2_Missense_Mutation_p.P272L	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 2-like 1 isoform 1	375	Pro-rich.						GTP binding				0						CCAACGCCACCCCCACCCCCT	0.378													T	93768349	C	T	93768349	3	4	67	1	0	0	0	0	1	0	0	0	929	623	22	4	1154	4	ARL13B	3	93768349	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	39933101	93768349	104254081	42	48350											
OR5H14	403273	broad.mit.edu	37	chr3	97868965	97868965	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgtggagctcatctcTtatctgtatctttatactat	5	11	4	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:97868965T>C	uc003dsg.1	+	1	736	c.736T>C	c.(736-738)TTA>CTA	p.L246L		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H,	246	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AGCTCATCTCTTATCTGTATC	0.413													C	97868965	T	C	97868965	2	2	67	1	0	0	0	0	0	0	0	1	11160	1606	56	3		3	OR5H14	3	97868965	Silent	SNP	T	TCGA-BR-8286-01A-12D-2340-08	4100616	97868965	100153465	43	48351											
IMPG2	50939	broad.mit.edu	37	chr3	100951812	100951812	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaattcattacaggcctgaaActtgcaagggttggcttcat	9	8	2	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:100951812A>T	uc003duq.1	-	15	3249	c.3046T>A	c.(3046-3048)TTT>ATT	p.F1016I	IMPG2_uc011bhe.1_Missense_Mutation_p.F879I|IMPG2_uc010hpj.1_RNA	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1016	Extracellular (Potential).|EGF-like 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						CAGGCCTGAAACTTGCAAGGG	0.438													T	100951812	A	T	100951812	3	4	67	1	0	0	0	0	1	0	0	0	7729	43	2	5	699	5	IMPG2	3	100951812	Missense_Mutation	SNP	A	TCGA-BR-8286-01A-12D-2340-08	3082847	100951812	97070618	44	48352											
BBX	56987	broad.mit.edu	37	chr3	107492475	107492475	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctctctgcgagctaatgTtgacagaggtaagtaacttc	9	10	1	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:107492475T>C	uc010hpr.2	+	11	2234	c.1907T>C	c.(1906-1908)GTT>GCT	p.V636A	BBX_uc003dwk.3_Missense_Mutation_p.V636A|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.V657A|BBX_uc003dwm.3_Missense_Mutation_p.V636A|BBX_uc003dwo.3_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	636					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CGAGCTAATGTTGACAGAGGT	0.393													C	107492475	T	C	107492475	3	2	67	1	0	0	0	0	1	0	0	0	1343	1725	60	3	1937	3	BBX	3	107492475	Missense_Mutation	SNP	T	TCGA-BR-8286-01A-12D-2340-08	6540663	107492475	90529955	45	48353											
ALDH1L1	10840	broad.mit.edu	37	chr3	125879818	125879818	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtccaatcactgcaatcTtcatggtagcaggagggttg	11	9	4	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:125879818T>G	uc003eim.1	-	2	195	c.5A>C	c.(4-6)AAG>ACG	p.K2T	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.K2T|ALDH1L1_uc010hsf.1_5'UTR|ALDH1L1_uc003eip.1_5'Flank|ALDH1L1_uc011bkj.1_5'UTR	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	2	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CACTGCAATCTTCATGGTAGC	0.532													G	125879818	T	G	125879818	3	3	67	1	0	0	0	0	1	0	0	0	494	1609	56	5	2791	5	ALDH1L1	3	125879818	Missense_Mutation	SNP	T	TCGA-BR-8286-01A-12D-2340-08	18387343	125879818	72142612	46	48354											
STAG1	10274	broad.mit.edu	37	chr3	136057238	136057238	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttctatgatagctgcagAgtcaaagaagtctggcctta	9	8	4	3			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:136057238A>G	uc003era.1	-	33	4019	c.3727T>C	c.(3727-3729)TCT>CCT	p.S1243P	STAG1_uc003erb.1_Missense_Mutation_p.S1206P	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1243					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						ATAGCTGCAGAGTCAAAGAAG	0.358													G	136057238	A	G	136057238	3	3	67	1	0	0	0	0	1	0	0	0	15241	304	11	3	57	3	STAG1	3	136057238	Missense_Mutation	SNP	A	TCGA-BR-8286-01A-12D-2340-08	10177420	136057238	61965192	47	48355											
PRR23B	389151	broad.mit.edu	37	chr3	138739227	138739227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggatgagggtgtgtccacCgagagacactcgcaggatcg	15	10	0	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:138739227C>T	uc003esy.1	-	1	542	c.277G>A	c.(277-279)GGT>AGT	p.G93S		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	proline rich 23B	93										breast(1)	1						GTGTGTCCACCGAGAGACACT	0.662													T	138739227	C	T	138739227	3	4	67	1	0	0	0	0	1	0	0	0	12595	652	23	1	524	1	PRR23B	3	138739227	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	2681989	138739227	59283203	48	48356											
IGSF10	285313	broad.mit.edu	37	chr3	151163065	151163065	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattggttttctgcccagggAgatggagttaatttagaatt	11	4	1	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:151163065A>G	uc011bod.1	-	4	4704	c.4704T>C	c.(4702-4704)TCT>TCC	p.S1568S		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1568					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGCCCAGGGAGATGGAGTTA	0.413													G	151163065	A	G	151163065	2	3	67	1	0	0	0	0	0	0	0	1	7597	291	11	3		3	IGSF10	3	151163065	Silent	SNP	A	TCGA-BR-8286-01A-12D-2340-08	12423838	151163065	46859365	49	48357											
RBM47	54502	broad.mit.edu	37	chr4	40438548	40438548	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgctgctttcctttccCttcatgatatcggctatata	5	11	2	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr4:40438548C>A	uc003gvc.2	-	5	1950	c.1240G>T	c.(1240-1242)GGG>TGG	p.G414W	RBM47_uc003gvd.2_Intron|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.G376W	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	414						nucleus	nucleotide binding|RNA binding			breast(3)	3						TTTCCTTTCCCTTCATGATAT	0.517													A	40438548	C	A	40438548	3	1	67	1	0	0	0	0	1	0	0	0	13141	681	24	5	553	5	RBM47	4	40438548	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08		40438548	150715728	50	48358											
ANTXR2	118429	broad.mit.edu	37	chr4	80898743	80898743	+	Frame_Shift_Del	DEL	A	A	-													ttatactgactcaagcagttAgctctttctcaatacattcc							TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr4:80898743delA	uc003hlz.3	-	16	2223	c.1460delT	c.(1459-1461)CTAfs	p.L487fs	ANTXR2_uc003hly.3_Intron|ANTXR2_uc003hlx.1_Intron|ANTXR2_uc010ijn.2_Frame_Shift_Del_p.L384fs	NM_001145794	NP_001139266	P58335	ANTR2_HUMAN	anthrax toxin receptor 2 isoform 2	487	Cytoplasmic (Potential).					endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			ovary(1)	1						TCAAGCAGTTAGCTCTTTCTC	0.418									Juvenile_Hyaline_Fibromatosis				-	80898743	A	-	80898743	7	5	67	1	0	1	0	1	0	0	0	0	712	420	15	0	56	0	ANTXR2	4	80898743	Frame_Shift_Del	DEL	A	TCGA-BR-8286-01A-12D-2340-08	40460195	80898743	110255533	51	48359											
DNAH5	1767	broad.mit.edu	37	chr5	13717530	13717530	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaccccagggcaccgaacTtgcgcctctcctggacagtg	10	17	1	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr5:13717530T>G	uc003jfd.2	-	73	12641	c.12599A>C	c.(12598-12600)AAG>ACG	p.K4200T	DNAH5_uc003jfc.2_Missense_Mutation_p.K368T	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4200	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K4200T(1)		ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GGCACCGAACTTGCGCCTCTC	0.552									Kartagener_syndrome				G	13717530	T	G	13717530	3	3	67	1	0	0	0	0	1	0	0	0	4604	1609	56	5	1303	5	DNAH5	5	13717530	Missense_Mutation	SNP	T	TCGA-BR-8286-01A-12D-2340-08		13717530	167197730	52	48360											
DNAH5	1767	broad.mit.edu	37	chr5	13824440	13824440	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggccaaagtcataatgAacctagagaatgtgagatac	10	8	1	3			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr5:13824440A>C	uc003jfd.2	-	39	6489	c.6447T>G	c.(6445-6447)GTT>GTG	p.V2149V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2149	AAA 1 (By similarity).				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)					AGTCATAATGAACCTAGAGAA	0.383									Kartagener_syndrome				C	13824440	A	C	13824440	2	2	67	1	0	0	0	0	0	0	0	1	4604	233	9	5		5	DNAH5	5	13824440	Silent	SNP	A	TCGA-BR-8286-01A-12D-2340-08	106910	13824440	167090820	53	48361											
CDH12	1010	broad.mit.edu	37	chr5	21751873	21751873	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actttatcagggttataactCtcttcttcgccaaacatgtc	5	11	3	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr5:21751873C>T	uc010iuc.2	-	12	2816	c.2358G>A	c.(2356-2358)GAG>GAA	p.E786E	CDH12_uc011cno.1_Silent_p.E746E|CDH12_uc003jgk.2_Silent_p.E786E|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	786	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						GGTTATAACTCTCTTCTTCGC	0.418										HNSCC(59;0.17)			T	21751873	C	T	21751873	2	4	67	1	0	0	0	0	0	0	0	1	3098	912	32	4		4	CDH12	5	21751873	Silent	SNP	C	TCGA-BR-8286-01A-12D-2340-08	7927433	21751873	159163387	54	48362											
CDH6	1004	broad.mit.edu	37	chr5	31313471	31313471	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggacagaatattcaacattGattctggaaatggttcgatt	9	5	2	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr5:31313471G>A	uc003jhe.1	+	8	1626	c.1300G>A	c.(1300-1302)GAT>AAT	p.D434N	CDH6_uc003jhd.1_Missense_Mutation_p.D434N	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	434	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						ATTCAACATTGATTCTGGAAA	0.373													A	31313471	G	A	31313471	3	1	67	1	0	0	0	0	1	0	0	0	3114	1290	45	4	1326	4	CDH6	5	31313471	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	9561598	31313471	149601789	55	48363											
RASA1	5921	broad.mit.edu	37	chr5	86564739	86564740	+	Frame_Shift_Del	DEL	CT	CT	-													gggacagtggacgaaggtgaCtctctggatggaccagaata							TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr5:86564739_86564740delCT	uc003kiw.2	+	1	589_590	c.471_472delCT	c.(469-474)GACTCTfs	p.D157fs	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_5'Flank|RASA1_uc011ctv.1_5'Flank|RASA1_uc011ctw.1_5'Flank|RASA1_uc010jaw.2_5'Flank|RASA1_uc011ctu.1_Frame_Shift_Del_p.D157fs	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	157_158					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ACGAAGGTGACTCTCTGGATGG	0.594													-	86564740	CT	-	86564739	7	5	67	1	0	1	0	1	0	0	0	0	13060	564	20	0	473	0	RASA1	5	86564739	Frame_Shift_Del	DEL	CT	TCGA-BR-8286-01A-12D-2340-08	55251268	86564739	94350521	56	48364											
GPR150	285601	broad.mit.edu	37	chr5	94956706	94956706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccgtcgcgggcttcgtcGcgcctgttacggtcctgggc	16	14	0	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr5:94956706G>A	uc003kle.1	+	1	727	c.727G>A	c.(727-729)GCG>ACG	p.A243T		NM_199243	NP_954713	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	243	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		GGGCTTCGTCGCGCCTGTTAC	0.687													A	94956706	G	A	94956706	3	1	67	1	0	0	0	0	1	0	0	0	6656	1087	38	1	729	1	GPR150	5	94956706	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	8391967	94956706	85958554	57	48365											
SRP19	6728	broad.mit.edu	37	chr5	112228594	112228594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaaacgcacatcaaagagtCgggagaggcacaattcacca	9	11	2	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr5:112228594C>T	uc011cvv.1	+	4	1588	c.1333C>T	c.(1333-1335)CGG>TGG	p.R445W	SRP19_uc011cvu.1_Missense_Mutation_p.R430W|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron			P09132	SRP19_HUMAN	SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;	Error:Variant_position_missing_in_P09132_after_alignment					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		ATCAAAGAGTCGGGAGAGGCA	0.552													T	112228594	C	T	112228594	3	4	67	1	0	0	0	0	1	0	0	0	15153	899	31	1		1	SRP19	5	112228594	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	17271888	112228594	68686666	58	48366											
AQPEP	206338	broad.mit.edu	37	chr5	115346505	115346505	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgaagaagatgaaattAtagtatggcatacagtcttg	10	4	1	4			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr5:115346505A>G	uc003kro.2	+	14	2325	c.2161A>G	c.(2161-2163)ATA>GTA	p.I721V	AQPEP_uc003krp.2_Intron|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_Intron	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	721	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						AGATGAAATTATAGTATGGCA	0.313													G	115346505	A	G	115346505	3	3	67	1	0	0	0	0	1	0	0	0	834	449	16	3	2215	3	AQPEP	5	115346505	Missense_Mutation	SNP	A	TCGA-BR-8286-01A-12D-2340-08	3117911	115346505	65568755	59	48367											
NRN1	51299	broad.mit.edu	37	chr6	5999379	5999379	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttatcccacatatctttcgCcccttcctggcaatccgtaa	4	15	1	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr6:5999379C>G	uc003mwu.2	-	3	910	c.259G>C	c.(259-261)GCG>CCG	p.A87P	NRN1_uc003mwt.2_Missense_Mutation_p.A113P	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN	neuritin precursor	87						anchored to membrane|plasma membrane					0	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		ATATCTTTCGCCCCTTCCTGG	0.522													G	5999379	C	G	5999379	3	3	67	1	0	0	0	0	1	0	0	0	10658	739	26	5	173	5	NRN1	6	5999379	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08		5999379	165115688	60	48368											
HLA-DQA2	3118	broad.mit.edu	37	chr6	32714123	32714123	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtgggcactgtcttcatcatCcaaggcctgcgttcagttgg	12	11	4	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr6:32714123C>A	uc003obx.2	+	4	778	c.720C>A	c.(718-720)ATC>ATA	p.I240I		NM_020056	NP_064440	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ	240	Helical; (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTCATCATCCAAGGCCTGC	0.522													A	32714123	C	A	32714123	2	1	67	1	0	0	0	0	0	0	0	1	7205	845	30	5		5	HLA-DQA2	6	32714123	Silent	SNP	C	TCGA-BR-8286-01A-12D-2340-08	26714744	32714123	138400944	61	48369											
HLA-DMB	3109	broad.mit.edu	37	chr6	32905013	32905013	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacaggtgtaagtgtccccGtaagagggggttaaggctaa	14	7	0	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr6:32905013G>A	uc003ocl.1	-	3	791	c.558C>T	c.(556-558)TAC>TAT	p.Y186Y	HLA-DMB_uc003ocj.1_3'UTR|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_Silent_p.Y55Y|HLA-DMB_uc010jue.1_Silent_p.Y55Y|HLA-DMB_uc010juf.1_Silent_p.Y55Y|HLA-DMB_uc011dql.1_Silent_p.Y186Y	NM_002118	NP_002109	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM	186	Lumenal (Potential).|Ig-like C1-type.|Beta-2.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex					0						AAGTGTCCCCGTAAGAGGGGG	0.547													A	32905013	G	A	32905013	2	1	67	1	0	0	0	0	0	0	0	1	7199	1140	40	1		1	HLA-DMB	6	32905013	Silent	SNP	G	TCGA-BR-8286-01A-12D-2340-08	190890	32905013	138210054	62	48370											
ZNF292	23036	broad.mit.edu	37	chr6	87969804	87969804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcagcagaggtcgaagagGaaagtgaagctggtaaagaa	14	4	1	4			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr6:87969804G>A	uc003plm.3	+	8	6498	c.6457G>A	c.(6457-6459)GAA>AAA	p.E2153K		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGTCGAAGAGGAAAGTGAAGC	0.398													A	87969804	G	A	87969804	3	1	67	1	0	0	0	0	1	0	0	0	17823	1175	41	4	6487	4	ZNF292	6	87969804	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	55064791	87969804	83145263	63	48371											
C6orf174	387104	broad.mit.edu	37	chr6	127837556	127837556	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgctgccgaacagaAttgagtttagtgccggcccc	12	12	0	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr6:127837556A>G	uc003qbd.2	-	2	1069	c.204T>C	c.(202-204)AAT>AAC	p.N68N		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	68						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		gcCGAACAGAATTGAGTTTAG	0.572													G	127837556	A	G	127837556	2	3	67	1	0	0	0	0	0	0	0	1	2345	98	4	3		3	C6orf174	6	127837556	Silent	SNP	A	TCGA-BR-8286-01A-12D-2340-08	39867752	127837556	43277511	64	48372											
FAM188B	84182	broad.mit.edu	37	chr7	30890083	30890083	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgcaggggactgcagcctTcagatgcccaccggacccgc	12	17	1	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr7:30890083T>C	uc003tbt.2	+	10	1536	c.1459T>C	c.(1459-1461)TCA>CCA	p.S487P	FAM188B_uc010kwe.2_Missense_Mutation_p.S458P|AQP1_uc011kac.1_5'Flank	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	hypothetical protein LOC84182	487											0						ACTGCAGCCTTCAGATGCCCA	0.597													C	30890083	T	C	30890083	3	2	67	1	0	0	0	0	1	0	0	0	5515	1783	62	3	1497	3	FAM188B	7	30890083	Missense_Mutation	SNP	T	TCGA-BR-8286-01A-12D-2340-08		30890083	128248580	65	48373											
CDK13	8621	broad.mit.edu	37	chr7	40132389	40132389	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taattttgtctttagtaaaaAcaggccctggacagcactta	7	8	1	0	rs67805104		TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr7:40132389A>G	uc003thh.3	+	13	3523	c.3241A>G	c.(3241-3243)ACA>GCA	p.T1081A	CDK13_uc003thi.3_Intron|CDK13_uc003thj.2_Missense_Mutation_p.T132A|CDK13_uc003thk.2_Missense_Mutation_p.T14A	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1081					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						TTTAGTAAAAACAGGCCCTGG	0.348													G	40132389	A	G	40132389	3	3	67	1	0	0	0	0	1	0	0	0	3129	43	2	3	3291	3	CDK13	7	40132389	Missense_Mutation	SNP	A	TCGA-BR-8286-01A-12D-2340-08	9242306	40132389	119006274	66	48374											
GLI3	2737	broad.mit.edu	37	chr7	42005605	42005605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgaggctgctgaagcgCggcacacgaggcagggccag	17	12	0	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr7:42005605C>T	uc011kbh.1	-	15	3157	c.3066G>A	c.(3064-3066)CCG>CCA	p.P1022P	GLI3_uc011kbg.1_Silent_p.P963P	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1022					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						TGCTGAAGCGCGGCACACGAG	0.736									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42005605	C	T	42005605	2	4	67	1	0	0	0	0	0	0	0	1	6439	755	27	1		1	GLI3	7	42005605	Silent	SNP	C	TCGA-BR-8286-01A-12D-2340-08	1873216	42005605	117133058	67	48375											
GLI3	2737	broad.mit.edu	37	chr7	42085089	42085089	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggccagttagcagggccatCtgatgatagtattctgctgg	13	8	2	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr7:42085089C>T	uc011kbh.1	-	6	811	c.720G>A	c.(718-720)CAG>CAA	p.Q240Q	GLI3_uc011kbg.1_Silent_p.Q181Q	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	240					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GCAGGGCCATCTGATGATAGT	0.532									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42085089	C	T	42085089	2	4	67	1	0	0	0	0	0	0	0	1	6439	912	32	4		4	GLI3	7	42085089	Silent	SNP	C	TCGA-BR-8286-01A-12D-2340-08	79484	42085089	117053574	68	48376											
IGFBP1	3484	broad.mit.edu	37	chr7	45931573	45931573	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagagtcgtagagagtttaGccaaggcacaggagacatca	12	8	1	3			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr7:45931573G>T	uc003tnp.2	+	3	855	c.562G>T	c.(562-564)GCC>TCC	p.A188S	IGFBP1_uc003tno.3_Missense_Mutation_p.A188S|IGFBP1_uc010kyn.2_Intron	NM_000596	NP_000587	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	188	Thyroglobulin type-1.					extracellular space	insulin-like growth factor binding			lung(1)	1						AGAGAGTTTAGCCAAGGCACA	0.428											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	45931573	G	T	45931573	3	4	67	1	0	0	0	0	1	0	0	0	7578	971	34	5	572	5	IGFBP1	7	45931573	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	3846484	45931573	113207090	69	48377											
PCLO	27445	broad.mit.edu	37	chr7	82582874	82582874	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccattacttctcagaacagcTgtggtctctagagtagtaac	8	10	2	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr7:82582874T>G	uc003uhx.2	-	5	7684	c.7395A>C	c.(7393-7395)ACA>ACC	p.T2465T	PCLO_uc003uhv.2_Silent_p.T2465T|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2396	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TCAGAACAGCTGTGGTCTCTA	0.408													G	82582874	T	G	82582874	2	3	67	1	0	0	0	0	0	0	0	1	11583	1567	55	5		5	PCLO	7	82582874	Silent	SNP	T	TCGA-BR-8286-01A-12D-2340-08	36651301	82582874	76555789	70	48378											
MUC17	140453	broad.mit.edu	37	chr7	100687003	100687003	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acaaaacccagcacacggacCacttccttccccacggtgac	6	18	0	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr7:100687003C>G	uc003uxp.1	+	3	12359	c.12306C>G	c.(12304-12306)ACC>ACG	p.T4102T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	4102	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACACGGACCACTTCCTTCC	0.552													G	100687003	C	G	100687003	2	3	67	1	0	0	0	0	0	0	0	1	9974	581	21	5		5	MUC17	7	100687003	Silent	SNP	C	TCGA-BR-8286-01A-12D-2340-08	18104129	100687003	58451660	71	48379											
ANKRD7	56311	broad.mit.edu	37	chr7	117864908	117864908	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aataagcttttcagcttctgGaagaggaagaatgagacccg	11	7	2	3			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr7:117864908G>T	uc003vji.2	+	1	197	c.24G>T	c.(22-24)TGG>TGT	p.W8C		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	8					male gonad development						0						TCAGCTTCTGGAAGAGGAAGA	0.527													T	117864908	G	T	117864908	3	4	67	1	0	0	0	0	1	0	0	0	686	1183	41	5	26	5	ANKRD7	7	117864908	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	17177905	117864908	41273755	72	48380											
TPK1	27010	broad.mit.edu	37	chr7	144463012	144463012	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaatagttgtccaaaggctGattaagaattacaaggcagt	9	5	0	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr7:144463012G>A	uc003weq.2	-	3	179	c.76C>T	c.(76-78)CAG>TAG	p.Q26*	TPK1_uc003wer.2_Nonsense_Mutation_p.Q26*|TPK1_uc003wes.2_RNA	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1 isoform a	26					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			ovary(2)	2					Thiamine(DB00152)	TCCAAAGGCTGATTAAGAATT	0.318													A	144463012	G	A	144463012	4	1	67	1	0	0	0	0	0	1	0	0	16401	1299	45	4	683	4	TPK1	7	144463012	Nonsense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	26598104	144463012	14675651	73	48381											
PTPRN2	5799	broad.mit.edu	37	chr7	157370783	157370783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgccggacgccgttctccGcgaggggtgtcagcatgacg	15	13	2	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr7:157370783G>A	uc003wno.2	-	18	2667	c.2546C>T	c.(2545-2547)GCG>GTG	p.A849V	PTPRN2_uc003wnp.2_Missense_Mutation_p.A832V|PTPRN2_uc003wnq.2_Missense_Mutation_p.A820V|PTPRN2_uc003wnr.2_Missense_Mutation_p.A811V|PTPRN2_uc011kwa.1_Missense_Mutation_p.A872V	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	849	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCCGTTCTCCGCGAGGGGTGT	0.622													A	157370783	G	A	157370783	3	1	67	1	0	0	0	0	1	0	0	0	12808	1087	38	1	525	1	PTPRN2	7	157370783	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	12907771	157370783	1767880	74	48382											
NCAPG2	54892	broad.mit.edu	37	chr7	158448112	158448112	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcactgaagccacgaggcttCccacccggtgtctgcagaag	11	14	2	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr7:158448112C>T	uc003wnv.1	-	20	2569	c.2424G>A	c.(2422-2424)GGG>GGA	p.G808G	NCAPG2_uc010lqu.1_Silent_p.G600G|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Silent_p.G808G|NCAPG2_uc011kwe.1_Silent_p.G808G|NCAPG2_uc011kwc.1_Silent_p.G309G|NCAPG2_uc011kwd.1_Silent_p.G251G	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	808					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CACGAGGCTTCCCACCCGGTG	0.587													T	158448112	C	T	158448112	2	4	67	1	0	0	0	0	0	0	0	1	10208	842	30	4		4	NCAPG2	7	158448112	Silent	SNP	C	TCGA-BR-8286-01A-12D-2340-08	1077329	158448112	690551	75	48383											
PREX2	80243	broad.mit.edu	37	chr8	68930087	68930087	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgtttcatgcaggcattcTtacacagaatgaaccagtgt	8	9	2	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr8:68930087T>G	uc003xxv.1	+	2	175	c.148T>G	c.(148-150)TTA>GTA	p.L50V	PREX2_uc003xxu.1_Missense_Mutation_p.L50V|PREX2_uc011lez.1_Intron	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	50	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GCAGGCATTCTTACACAGAAT	0.378													G	68930087	T	G	68930087	3	3	67	1	0	0	0	0	1	0	0	0	12477	1606	56	5	154	5	PREX2	8	68930087	Missense_Mutation	SNP	T	TCGA-BR-8286-01A-12D-2340-08		68930087	77433935	76	48384											
ATP6V1C1	528	broad.mit.edu	37	chr8	104068162	104068162	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtagttccaaggtctagCaagtaagtagaagtctttgt	11	5	2	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr8:104068162C>T	uc003ykz.3	+	8	884	c.639C>T	c.(637-639)AGC>AGT	p.S213S	ATP6V1C1_uc010mbz.2_Silent_p.S138S|ATP6V1C1_uc003yla.2_Silent_p.S213S|ATP6V1C1_uc011lhl.1_Silent_p.S138S	NM_001695	NP_001686	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit	213					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism				0	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CAAGGTCTAGCAAGTAAGTAG	0.373													T	104068162	C	T	104068162	2	4	67	1	0	0	0	0	0	0	0	1	1180	709	25	2		2	ATP6V1C1	8	104068162	Silent	SNP	C	TCGA-BR-8286-01A-12D-2340-08	35138075	104068162	42295860	77	48385											
CSMD3	114788	broad.mit.edu	37	chr8	113585844	113585844	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgcatagatgcaccagtaaAagcacctagtagatgagtcg	11	9	0	3			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr8:113585844A>T	uc003ynu.2	-	24	4087	c.3928T>A	c.(3928-3930)TTT>ATT	p.F1310I	CSMD3_uc003yns.2_Missense_Mutation_p.F582I|CSMD3_uc003ynt.2_Missense_Mutation_p.F1270I|CSMD3_uc011lhx.1_Missense_Mutation_p.F1206I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1310	Extracellular (Potential).|CUB 7.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GCACCAGTAAAAGCACCTAGT	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113585844	A	T	113585844	3	4	67	1	0	0	0	0	1	0	0	0	3946	14	1	5	7387	5	CSMD3	8	113585844	Missense_Mutation	SNP	A	TCGA-BR-8286-01A-12D-2340-08	9517682	113585844	32778178	78	48386											
BAI1	575	broad.mit.edu	37	chr8	143624776	143624776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcagcggcggaagtcgCggtatgcagaactggacttt	14	11	0	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr8:143624776C>T	uc003ywm.2	+	28	4609	c.4426C>T	c.(4426-4428)CGG>TGG	p.R1476W		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1476	Cytoplasmic (Potential).|Necessary for interaction with MAGI1.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCGGAAGTCGCGGTATGCAGA	0.627													T	143624776	C	T	143624776	3	4	67	1	0	0	0	0	1	0	0	0	1298	759	27	1	4536	1	BAI1	8	143624776	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	30038932	143624776	2739246	79	48387											
CYP11B1	1584	broad.mit.edu	37	chr8	143961157	143961157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccgggcggctctcgtgcCcagtgcctgtgccctttgca	13	16	1	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr8:143961157C>T	uc003yxi.2	-	1	80	c.73G>A	c.(73-75)GGC>AGC	p.G25S	CYP11B1_uc003yxj.2_Missense_Mutation_p.G25S|CYP11B1_uc010mey.2_Missense_Mutation_p.G25S	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	25					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GCTCTCGTGCCCAGTGCCTGT	0.647									Familial_Hyperaldosteronism_type_I				T	143961157	C	T	143961157	3	4	67	1	0	0	0	0	1	0	0	0	4145	623	22	4	1474	4	CYP11B1	8	143961157	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	336381	143961157	2402865	80	48388											
PTPRD	5789	broad.mit.edu	37	chr9	8404618	8404618	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttggtttgtttacttccaAgtttgaatgttcccaagtga	8	7	0	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr9:8404618A>G	uc003zkk.2	-	35	4840	c.4129T>C	c.(4129-4131)TTG>CTG	p.L1377L	PTPRD_uc003zkp.2_Silent_p.L971L|PTPRD_uc003zkq.2_Silent_p.L970L|PTPRD_uc003zkr.2_Silent_p.L961L|PTPRD_uc003zks.2_Silent_p.L970L|PTPRD_uc003zkl.2_Silent_p.L1368L|PTPRD_uc003zkm.2_Silent_p.L1364L|PTPRD_uc003zkn.2_Silent_p.L966L|PTPRD_uc003zko.2_Silent_p.L967L	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1377	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTTACTTCCAAGTTTGAATGT	0.378										TSP Lung(15;0.13)			G	8404618	A	G	8404618	2	3	67	1	0	0	0	0	0	0	0	1	12799	69	3	3		3	PTPRD	9	8404618	Silent	SNP	A	TCGA-BR-8286-01A-12D-2340-08		8404618	132808813	81	48389											
BNC2	54796	broad.mit.edu	37	chr9	16436012	16436012	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtttgggctccgaagacTcagactcgttctcatagtcc	9	13	2	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr9:16436012T>C	uc003zml.2	-	6	2320	c.2180A>G	c.(2179-2181)GAG>GGG	p.E727G	BNC2_uc011lmw.1_Missense_Mutation_p.E632G|BNC2_uc003zmm.2_Missense_Mutation_p.E685G|BNC2_uc003zmq.1_Missense_Mutation_p.E741G|BNC2_uc003zmr.1_Missense_Mutation_p.E764G|BNC2_uc003zmp.1_Missense_Mutation_p.E755G|BNC2_uc010mij.1_Missense_Mutation_p.E649G|BNC2_uc011lmv.1_Missense_Mutation_p.E553G|BNC2_uc003zmo.1_Missense_Mutation_p.E649G|BNC2_uc003zmj.2_Missense_Mutation_p.E492G|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.E492G|BNC2_uc003zmn.1_Missense_Mutation_p.E492G	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	727					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		CTCCGAAGACTCAGACTCGTT	0.507													C	16436012	T	C	16436012	3	2	67	1	0	0	0	0	1	0	0	0	1475	1551	54	3	1127	3	BNC2	9	16436012	Missense_Mutation	SNP	T	TCGA-BR-8286-01A-12D-2340-08	8031394	16436012	124777419	82	48390											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18680489	18680489	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caacatttttgactgccctaAatggctggcacaggagtggt	11	9	0	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr9:18680489A>C	uc003zne.3	+	11	1443	c.1316A>C	c.(1315-1317)AAA>ACA	p.K439T	ADAMTSL1_uc003znb.2_Missense_Mutation_p.K422T|ADAMTSL1_uc003znc.3_Missense_Mutation_p.K439T	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	439	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		GACTGCCCTAAATGGCTGGCA	0.527													C	18680489	A	C	18680489	3	2	67	1	0	0	0	0	1	0	0	0	274	14	1	5	1358	5	ADAMTSL1	9	18680489	Missense_Mutation	SNP	A	TCGA-BR-8286-01A-12D-2340-08	2244477	18680489	122532942	83	48391											
CORO2A	7464	broad.mit.edu	37	chr9	100890891	100890891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcccgactgcccttacccGccggggcacaatcatggaga	12	15	1	1	rs141466107		TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr9:100890891G>A	uc004ayl.2	-	9	1344	c.1078C>T	c.(1078-1080)CGG>TGG	p.R360W	CORO2A_uc004aym.2_Missense_Mutation_p.R360W|CORO2A_uc004ayk.2_5'Flank	NM_003389	NP_003380	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	360				R -> G (in Ref. 1; AAB47807).	actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			skin(2)|ovary(1)|pancreas(1)	4		Acute lymphoblastic leukemia(62;0.0559)				GCCCTTACCCGCCGGGGCACA	0.607													A	100890891	G	A	100890891	3	1	67	1	0	0	0	0	1	0	0	0	3756	1086	38	1	515	1	CORO2A	9	100890891	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	82210402	100890891	40322540	84	48392											
SVEP1	79987	broad.mit.edu	37	chr9	113261433	113261433	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggcaacttacatagcagatCgtcccaaatttggctggctg	10	11	0	1	rs3737156	by1000genomes	TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr9:113261433C>T	uc010mtz.2	-	7	1906	c.1569G>A	c.(1567-1569)ACG>ACA	p.T523T	SVEP1_uc010mua.1_Silent_p.T523T|SVEP1_uc004beu.2_Silent_p.T523T	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	523	Sushi 3.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CATAGCAGATCGTCCCAAATT	0.488													T	113261433	C	T	113261433	2	4	67	1	0	0	0	0	0	0	0	1	15417	871	31	1		1	SVEP1	9	113261433	Silent	SNP	C	TCGA-BR-8286-01A-12D-2340-08	12370542	113261433	27951998	85	48393											
FKBP15	23307	broad.mit.edu	37	chr9	115959233	115959233	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcctaacctccacctcgaaCaccaggatcgagtccgttgc	8	17	0	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr9:115959233C>A	uc004bgs.2	-	9	961	c.843G>T	c.(841-843)GTG>GTT	p.V281V	FKBP15_uc010muu.1_Silent_p.V345V|FKBP15_uc011lxd.1_Silent_p.V213V|FKBP15_uc010mut.1_Silent_p.V149V|FKBP15_uc004bgt.2_Silent_p.V281V	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	281	PPIase FKBP-type.				endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3						CCACCTCGAACACCAGGATCG	0.463													A	115959233	C	A	115959233	2	1	67	1	0	0	0	0	0	0	0	1	5905	465	17	5		5	FKBP15	9	115959233	Silent	SNP	C	TCGA-BR-8286-01A-12D-2340-08	2697800	115959233	25254198	86	48394											
TLR4	7099	broad.mit.edu	37	chr9	120476848	120476848	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggagacgactcagaaaagcCctgctggatggtaaatcatg	12	8	2	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr9:120476848C>G	uc004bjz.2	+	3	2733	c.2442C>G	c.(2440-2442)GCC>GCG	p.A814A	TLR4_uc004bka.2_Silent_p.A774A|TLR4_uc004bkb.2_Silent_p.A614A	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	814	Cytoplasmic (Potential).|TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.A814T(1)		lung(10)|ovary(4)|breast(1)|skin(1)	16						TCAGAAAAGCCCTGCTGGATG	0.507													G	120476848	C	G	120476848	2	3	67	1	0	0	0	0	0	0	0	1	15950	610	22	5		5	TLR4	9	120476848	Silent	SNP	C	TCGA-BR-8286-01A-12D-2340-08	4517615	120476848	20736583	87	48395											
LRSAM1	90678	broad.mit.edu	37	chr9	130249962	130249962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctttctggcagcatggccGaaatggatgaacgattccag	12	9	2	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr9:130249962G>A	uc004brb.1	+	18	1612	c.1267G>A	c.(1267-1269)GAA>AAA	p.E423K	LRSAM1_uc010mxk.1_Missense_Mutation_p.E423K|LRSAM1_uc004brc.1_Missense_Mutation_p.E423K|LRSAM1_uc004brd.1_Missense_Mutation_p.E423K|LRSAM1_uc004bre.1_Missense_Mutation_p.E3K	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif	423					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding				0						CAGCATGGCCGAAATGGATGA	0.358													A	130249962	G	A	130249962	3	1	67	1	0	0	0	0	1	0	0	0	9043	1059	37	1	1329	1	LRSAM1	9	130249962	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	9773114	130249962	10963469	88	48396											
GRIN1	2902	broad.mit.edu	37	chr9	140040199	140040199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatccacctgagcttcctgCgcaccgtgccgccctactcc	8	20	0	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr9:140040199C>T	uc004clk.2	+	3	745	c.415C>T	c.(415-417)CGC>TGC	p.R139C	GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Missense_Mutation_p.R136C|GRIN1_uc004cll.2_Missense_Mutation_p.R139C|GRIN1_uc004clm.2_Missense_Mutation_p.R139C|GRIN1_uc004cln.2_Missense_Mutation_p.R136C|GRIN1_uc004clo.2_Missense_Mutation_p.R136C	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	139	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			skin(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GAGCTTCCTGCGCACCGTGCC	0.677													T	140040199	C	T	140040199	3	4	67	1	0	0	0	0	1	0	0	0	6778	768	27	1	425	1	GRIN1	9	140040199	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	9790237	140040199	1173232	89	48397											
MEIG1	644890	broad.mit.edu	37	chr10	15014613	15014613	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaatgtgatgacaaagaagtCcacaaagtgaaaatttatgc	9	5	0	4			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr10:15014613C>T	uc009xjk.1	+	3	388	c.240C>T	c.(238-240)GTC>GTT	p.V80V		NM_001080836	NP_001074305	Q5JSS6	MEIG1_HUMAN	meiosis expressed gene 1 homolog	80											0						ACAAAGAAGTCCACAAAGTGA	0.353													T	15014613	C	T	15014613	2	4	67	1	0	0	0	0	0	0	0	1	9466	842	30	4		4	MEIG1	10	15014613	Silent	SNP	C	TCGA-BR-8286-01A-12D-2340-08		15014613	120520134	90	48398											
PLXDC2	84898	broad.mit.edu	37	chr10	20500613	20500613	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatgttccagtggattTgatcgtcatcggcaggactg	13	7	1	3			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr10:20500613T>C	uc001iqg.1	+	10	1714	c.1077T>C	c.(1075-1077)TTT>TTC	p.F359F	PLXDC2_uc001iqh.1_Silent_p.F310F|PLXDC2_uc009xkc.1_Intron	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	359	Extracellular (Potential).|PSI.					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						CCAGTGGATTTGATCGTCATC	0.448													C	20500613	T	C	20500613	2	2	67	1	0	0	0	0	0	0	0	1	12118	1809	63	3		3	PLXDC2	10	20500613	Silent	SNP	T	TCGA-BR-8286-01A-12D-2340-08	5486000	20500613	115034134	91	48399											
ZEB1	6935	broad.mit.edu	37	chr10	31816022	31816022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaggaagaggaggaggagGaggaagaagtggaagaagaa	20	0	0	5			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr10:31816022G>A	uc001ivs.3	+	9	3268	c.3205G>A	c.(3205-3207)GAG>AAG	p.E1069K	ZEB1_uc001ivr.3_Missense_Mutation_p.E851K|ZEB1_uc010qee.1_Missense_Mutation_p.E851K|ZEB1_uc010qef.1_Missense_Mutation_p.E851K|ZEB1_uc001ivt.3_Missense_Mutation_p.E851K|ZEB1_uc001ivu.3_Missense_Mutation_p.E1070K|ZEB1_uc001ivv.3_Missense_Mutation_p.E1049K|ZEB1_uc010qeh.1_Missense_Mutation_p.E1002K|ZEB1_uc009xlp.2_Missense_Mutation_p.E1053K	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	1069	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				ggaggaggaggaggaagaagt	0.114													A	31816022	G	A	31816022	3	1	67	1	0	0	0	0	1	0	0	0	17620	1175	41	4	3253	4	ZEB1	10	31816022	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	11315409	31816022	103718725	92	48400											
TMEM72	643236	broad.mit.edu	37	chr10	45430170	45430170	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcggaagaagaggaaagctgCccccgaggtgctggcctccc	15	13	0	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr10:45430170C>A	uc001jbn.2	+	5	613	c.416C>A	c.(415-417)GCC>GAC	p.A139D	uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.A21D	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	transmembrane protein 72	139						integral to membrane					0						AGGAAAGCTGCCCCCGAGGTG	0.592													A	45430170	C	A	45430170	3	1	67	1	0	0	0	0	1	0	0	0	16198	739	26	5	434	5	TMEM72	10	45430170	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	13614148	45430170	90104577	93	48401											
ZWINT	11130	broad.mit.edu	37	chr10	58118593	58118593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgtcccgctcctgttctGcctgctgcttcaggtttcca	9	15	2	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr10:58118593G>A	uc001jjx.1	-	6	633	c.596C>T	c.(595-597)GCA>GTA	p.A199V	ZWINT_uc001jjy.1_Intron|ZWINT_uc001jka.1_Missense_Mutation_p.A199V|ZWINT_uc009xoy.1_RNA	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	199	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						CTCCTGTTCTGCCTGCTGCTT	0.537													A	58118593	G	A	58118593	3	1	67	1	0	0	0	0	1	0	0	0	18246	1319	46	2	249	2	ZWINT	10	58118593	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	12688423	58118593	77416154	94	48402											
PBLD	64081	broad.mit.edu	37	chr10	70051949	70051950	+	In_Frame_Ins	INS	-	-	TAGTTCTCC													cctctgctcgtctggcccttINSagttctccactcagagtgac							TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr10:70051948_70051949T>TTAGTTCTCC	uc001jns.1	-	4	533_534	c.330_331A>GGAGAACTAA	c.(328-333)ctaagg>ctGGAGAACTAAgg	p.111_111R>EN*	PBLD_uc001jnr.1_In_Frame_Ins_p.78_78R>EN*|PBLD_uc001jnt.1_In_Frame_Ins_p.111_111R>EN*|PBLD_uc001jnu.1_In_Frame_Ins_p.111_111R>EN*|PBLD_uc001jnv.1_In_Frame_Ins_p.78_78R>EN*	NM_022129	NP_071412	P30039	PBLD_HUMAN	Homo sapiens phenazine biosynthesis-like protein domain containing (PBLD), transcript variant 1, mRNA.	111					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						CGTCTGGCCCTTAGTTCTCCAC	0.455													TAGTTCTCC	70051950	-	TAGTTCTCC	70051949	7	5	67	1	0	1	1	0	0	0	0	0	11489	1741	61	0	649	0	PBLD	10	70051949	In_Frame_Ins	INS	-	TCGA-BR-8286-01A-12D-2340-08	11933356	70051949	65482798	95	48403											
CCAR1	55749	broad.mit.edu	37	chr10	70547722	70547722	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtagtgctccgtgaatcTtgcttttaccggaaattaac	8	8	1	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr10:70547722T>G	uc001joo.2	+	22	3038	c.2919T>G	c.(2917-2919)TCT>TCG	p.S973S	CCAR1_uc010qiz.1_Silent_p.S958S|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	973					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7						TCCGTGAATCTTGCTTTTACC	0.348													G	70547722	T	G	70547722	2	3	67	1	0	0	0	0	0	0	0	1	2730	1596	56	5		5	CCAR1	10	70547722	Silent	SNP	T	TCGA-BR-8286-01A-12D-2340-08	495773	70547722	64987025	96	48404											
AVPI1	60370	broad.mit.edu	37	chr10	99439503	99439503	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcccagatgatctgtgcccGttcctcggccagctggtccc	10	16	1	2	rs147898720		TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr10:99439503G>C	uc001koh.1	-	2	271	c.160C>G	c.(160-162)CGG>GGG	p.R54G	AVPI1_uc001koi.2_Missense_Mutation_p.R54G	NM_021732	NP_068378	Q5T686	AVPI1_HUMAN	vasopressin-induced protein, 32kDa	54					cell cycle					breast(1)	1		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		ATCTGTGCCCGTTCCTCGGCC	0.662													C	99439503	G	C	99439503	3	2	67	1	0	0	0	0	1	0	0	0	1230	1144	40	5	291	5	AVPI1	10	99439503	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	28891781	99439503	36095244	97	48405											
C10orf137	26098	broad.mit.edu	37	chr10	127427012	127427012	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatggccttgtttttggacaAaagtaagttgaattgatgtg	12	3	0	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr10:127427012A>C	uc001liq.1	+	15	2272	c.1979A>C	c.(1978-1980)AAA>ACA	p.K660T	C10orf137_uc001lin.2_Missense_Mutation_p.K626T|C10orf137_uc001lio.1_Missense_Mutation_p.K626T|C10orf137_uc001lip.1_Missense_Mutation_p.K364T|C10orf137_uc001lir.2_Missense_Mutation_p.K154T|C10orf137_uc001lis.1_5'Flank	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	660					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTTTTGGACAAAAGTAAGTTG	0.418													C	127427012	A	C	127427012	3	2	67	1	0	0	0	0	1	0	0	0	1594	14	1	5	1931	5	C10orf137	10	127427012	Missense_Mutation	SNP	A	TCGA-BR-8286-01A-12D-2340-08	27987509	127427012	8107735	98	48406											
OR51G2	81282	broad.mit.edu	37	chr11	4936037	4936037	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatcacaggaggaaagagaAgatacatgaaacccatgacc	9	9	2	4			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr11:4936037A>C	uc001lzr.1	-	1	857	c.857T>G	c.(856-858)CTT>CGT	p.L286R		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGAAAGAGAAGATACATGAA	0.498													C	4936037	A	C	4936037	3	2	67	1	0	0	0	0	1	0	0	0	11099	72	3	5	91	5	OR51G2	11	4936037	Missense_Mutation	SNP	A	TCGA-BR-8286-01A-12D-2340-08		4936037	130070479	99	48407											
OR51G2	81282	broad.mit.edu	37	chr11	4936528	4936528	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaagcggtcaaaggccatAgacagtagcacagaggactc	11	10	1	2	rs142042736	byFrequency	TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr11:4936528A>G	uc001lzr.1	-	1	366	c.366T>C	c.(364-366)TCT>TCC	p.S122S		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	122	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAAGGCCATAGACAGTAGCA	0.502													G	4936528	A	G	4936528	2	3	67	1	0	0	0	0	0	0	0	1	11099	407	15	3		3	OR51G2	11	4936528	Silent	SNP	A	TCGA-BR-8286-01A-12D-2340-08	491	4936528	130069988	100	48408											
APBB1	322	broad.mit.edu	37	chr11	6422615	6422615	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtttagagtggtccagggaGagtccatttaccaagcagcg	13	8	0	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr11:6422615G>T	uc001mdb.1	-	10	1648	c.1548C>A	c.(1546-1548)CTC>CTA	p.L516L	APBB1_uc001mcz.1_Silent_p.L135L|APBB1_uc001mdd.3_Silent_p.L294L|APBB1_uc001mda.2_Silent_p.L41L|APBB1_uc001mdc.1_Silent_p.L514L|APBB1_uc010rab.1_Silent_p.L41L|APBB1_uc010rac.1_RNA|APBB1_uc010rad.1_Silent_p.L233L	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	516					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGTCCAGGGAGAGTCCATTTA	0.547													T	6422615	G	T	6422615	2	4	67	1	0	0	0	0	0	0	0	1	759	929	33	5		5	APBB1	11	6422615	Silent	SNP	G	TCGA-BR-8286-01A-12D-2340-08	1486087	6422615	128583901	101	48409											
C11orf41	25758	broad.mit.edu	37	chr11	33572687	33572687	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgatcgaaatgctgggtgtGtatggagtcagcaacgtcac	14	7	2	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr11:33572687G>T	uc001mup.3	+	4	2854	c.2730G>T	c.(2728-2730)GTG>GTT	p.V910V	C11orf41_uc001mun.1_Silent_p.V910V	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	904						integral to membrane				ovary(2)	2						TGCTGGGTGTGTATGGAGTCA	0.493													T	33572687	G	T	33572687	2	4	67	1	0	0	0	0	0	0	0	1	1640	1364	48	5		5	C11orf41	11	33572687	Silent	SNP	G	TCGA-BR-8286-01A-12D-2340-08	27150072	33572687	101433829	102	48410											
OR5T3	390154	broad.mit.edu	37	chr11	56020329	56020329	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctctccttgctatttcTtgttctgacactcacacaaa	3	15	4	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr11:56020329T>G	uc010rjd.1	+	1	654	c.654T>G	c.(652-654)TCT>TCG	p.S218S		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	218	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					TTGCTATTTCTTGTTCTGACA	0.398													G	56020329	T	G	56020329	2	3	67	1	0	0	0	0	0	0	0	1	11183	1596	56	5		5	OR5T3	11	56020329	Silent	SNP	T	TCGA-BR-8286-01A-12D-2340-08	22447642	56020329	78986187	103	48411											
OR5B2	390190	broad.mit.edu	37	chr11	58189920	58189920	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcatagcatagaacacagatGccattttgtctgtgtccatg	8	9	2	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr11:58189920G>C	uc010rkg.1	-	1	815	c.815C>G	c.(814-816)GCA>GGA	p.A272G		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B,	272	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAACACAGATGCCATTTTGTC	0.488													C	58189920	G	C	58189920	3	2	67	1	0	0	0	0	1	0	0	0	11150	1319	46	5	118	5	OR5B2	11	58189920	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	2169591	58189920	76816596	104	48412											
NADSYN1	55191	broad.mit.edu	37	chr11	71208604	71208604	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggccaagatggggccctacAgcatgttctgcaaactcctc	10	13	1	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr11:71208604A>T	uc001oqn.2	+	19	1966	c.1840A>T	c.(1840-1842)AGC>TGC	p.S614C	NADSYN1_uc001oqo.2_Missense_Mutation_p.S354C|NADSYN1_uc001oqp.2_Missense_Mutation_p.S243C	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	614	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGGGCCCTACAGCATGTTCTG	0.522													T	71208604	A	T	71208604	3	4	67	1	0	0	0	0	1	0	0	0	10138	188	7	5	1914	5	NADSYN1	11	71208604	Missense_Mutation	SNP	A	TCGA-BR-8286-01A-12D-2340-08	13018684	71208604	63797912	105	48413											
PDE2A	5138	broad.mit.edu	37	chr11	72307657	72307658	+	Frame_Shift_Ins	INS	-	-	C													aagatgacagctgccacggcINScccagcctccttgtccgcta					rs142944983		TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr11:72307656_72307657G>GC	uc010rrc.2	-	5	715_716	c.469_470C>GC	c.(469-471)gccfs	p.A157fs	PDE2A_uc001oso.3_Frame_Shift_Ins_p.A136fs|PDE2A_uc010rra.2_Frame_Shift_Ins_p.A150fs|PDE2A_uc001osn.3_Intron|PDE2A_uc010rrb.2_Frame_Shift_Ins_p.A148fs|PDE2A_uc010rrd.2_Intron	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	157					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	AGCTGCCACGGCCCCAGCCTCC	0.644													C	72307658	-	C	72307657	7	5	67	1	0	1	1	0	0	0	0	0	11636	739	26	0	2460	0	PDE2A	11	72307657	Frame_Shift_Ins	INS	-	TCGA-BR-8286-01A-12D-2340-08	1099053	72307657	62698859	106	48414											
APOA4	337	broad.mit.edu	37	chr11	116692384	116692384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccaggcgctgctgaagCtctcgcaggttgtccccgat	13	14	1	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr11:116692384C>T	uc001pps.1	-	3	494	c.390G>A	c.(388-390)GAG>GAA	p.E130E		NM_000482	NP_000473			apolipoprotein A-IV precursor												0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		gctgctgaagctctcgcaggt	0.284													T	116692384	C	T	116692384	2	4	67	1	0	0	0	0	0	0	0	1	783	796	28	2		2	APOA4	11	116692384	Silent	SNP	C	TCGA-BR-8286-01A-12D-2340-08	44384727	116692384	18314132	107	48415											
MCAM	4162	broad.mit.edu	37	chr11	119183298	119183298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaacacctgatttccacgCggtccccttccttcagcatt	5	17	1	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr11:119183298C>T	uc001pwf.2	-	7	829	c.800G>A	c.(799-801)CGC>CAC	p.R267H	MCAM_uc001pwg.1_5'Flank	NM_006500	NP_006491	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	267	Ig-like C2-type 1.|Extracellular (Potential).				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		p.R267H(1)		ovary(2)|breast(1)|central_nervous_system(1)	4		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GATTTCCACGCGGTCCCCTTC	0.577													T	119183298	C	T	119183298	3	4	67	1	0	0	0	0	1	0	0	0	9368	768	27	1	1180	1	MCAM	11	119183298	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	2490914	119183298	15823218	108	48416											
OR10G4	390264	broad.mit.edu	37	chr11	123886393	123886393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtttacgtgctcactgtgCtggggaacctcctcatcctg	11	12	2	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr11:123886393C>T	uc010sac.1	+	1	112	c.112C>T	c.(112-114)CTG>TTG	p.L38L		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G,	38	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCTCACTGTGCTGGGGAACCT	0.562													T	123886393	C	T	123886393	2	4	67	1	0	0	0	0	0	0	0	1	10901	796	28	2		2	OR10G4	11	123886393	Silent	SNP	C	TCGA-BR-8286-01A-12D-2340-08	4703095	123886393	11120123	109	48417											
FLI1	2313	broad.mit.edu	37	chr11	128679074	128679074	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccgtatcagatcctgggcccGaccagcagtcgcctagccaa	10	16	1	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr11:128679074G>T	uc010sbu.1	+	8	1145	c.804G>T	c.(802-804)CCG>CCT	p.P268P	FLI1_uc010sbt.1_Silent_p.P75P|FLI1_uc010sbv.1_Silent_p.P235P|FLI1_uc009zci.2_Silent_p.P202P	NM_002017	NP_002008	Q01543	FLI1_HUMAN	Friend leukemia virus integration 1	268					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2266)	bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TCCTGGGCCCGACCAGCAGTC	0.423			T	EWSR1	Ewing sarcoma								T	128679074	G	T	128679074	2	4	67	1	0	0	0	0	0	0	0	1	5924	1045	37	5		5	FLI1	11	128679074	Silent	SNP	G	TCGA-BR-8286-01A-12D-2340-08	4792681	128679074	6327442	110	48418											
FAM90A1	55138	broad.mit.edu	37	chr12	8375360	8375360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttactggttgtgtggacCggcattggcccgcttgcaac	12	12	1	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr12:8375360C>T	uc001qui.2	-	7	1012	c.453G>A	c.(451-453)CCG>CCA	p.P151P	FAM90A1_uc001quh.2_Silent_p.P151P	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	hypothetical protein LOC55138	151							nucleic acid binding|zinc ion binding			ovary(1)	1				Kidney(36;0.0866)		TTGTGTGGACCGGCATTGGCC	0.527													T	8375360	C	T	8375360	2	4	67	1	0	0	0	0	0	0	0	1	5650	639	23	1		1	FAM90A1	12	8375360	Silent	SNP	C	TCGA-BR-8286-01A-12D-2340-08		8375360	125476535	111	48419											
KRT5	3852	broad.mit.edu	37	chr12	52912853	52912853	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtactgctcgaacaacggcTccaggttctgcctcacagtc	9	14	2	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr12:52912853T>A	uc001san.2	-	2	810	c.647A>T	c.(646-648)GAG>GTG	p.E216V	KRT5_uc009zmh.2_Missense_Mutation_p.E216V	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	216	Rod.|Linker 1.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		GAACAACGGCTCCAGGTTCTG	0.607													A	52912853	T	A	52912853	3	1	67	1	0	0	0	0	1	0	0	0	8479	1551	54	5	1157	5	KRT5	12	52912853	Missense_Mutation	SNP	T	TCGA-BR-8286-01A-12D-2340-08	44537493	52912853	80939042	112	48420											
IKZF4	64375	broad.mit.edu	37	chr12	56420736	56420736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactcccctgggggcatccGgctgcccaatggcaagctca	11	16	2	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr12:56420736G>A	uc001sjb.1	+	5	617	c.458G>A	c.(457-459)CGG>CAG	p.R153Q	IKZF4_uc010sqa.1_Missense_Mutation_p.R106Q|IKZF4_uc001sjc.1_Missense_Mutation_p.R153Q|IKZF4_uc001sjd.1_Missense_Mutation_p.R51Q|IKZF4_uc009zoi.1_Missense_Mutation_p.R108Q|IKZF4_uc001sje.1_Missense_Mutation_p.R112Q	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	zinc finger protein, subfamily 1A, 4	153					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGGGCATCCGGCTGCCCAAT	0.577													A	56420736	G	A	56420736	3	1	67	1	0	0	0	0	1	0	0	0	7617	1116	39	1	472	1	IKZF4	12	56420736	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	3507883	56420736	77431159	113	48421											
KSR2	283455	broad.mit.edu	37	chr12	117914308	117914308	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgcttggagaaggggagcTtatcctcctctgtgtcgggg	16	8	1	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr12:117914308T>G	uc001two.2	-	17	2511	c.2456A>C	c.(2455-2457)AAG>ACG	p.K819T		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	848	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAAGGGGAGCTTATCCTCCTC	0.607													G	117914308	T	G	117914308	3	3	67	1	0	0	0	0	1	0	0	0	8582	1609	56	5	325	5	KSR2	12	117914308	Missense_Mutation	SNP	T	TCGA-BR-8286-01A-12D-2340-08	61493572	117914308	15937587	114	48422											
BRCA2	675	broad.mit.edu	37	chr13	32911315	32911315	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gataaacaagcaacccaagtGtcaattaaaaaagatttggt	7	6	1	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr13:32911315G>C	uc001uub.1	+	11	3050	c.2823G>C	c.(2821-2823)GTG>GTC	p.V941V		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	941	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAACCCAAGTGTCAATTAAAA	0.343			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			C	32911315	G	C	32911315	2	2	67	1	0	0	0	0	0	0	0	1	1499	1364	48	5		5	BRCA2	13	32911315	Silent	SNP	G	TCGA-BR-8286-01A-12D-2340-08		32911315	82258563	115	48423											
MAB21L1	4081	broad.mit.edu	37	chr13	36049997	36049997	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaccgcgcagccgggcagTgagccatcgtccacgaagtt	13	14	0	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr13:36049997T>G	uc001uvc.2	-	1	836	c.279A>C	c.(277-279)TCA>TCC	p.S93S	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	93					anatomical structure morphogenesis	nucleus				ovary(2)	2		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		AGCCGGGCAGTGAGCCATCGT	0.592													G	36049997	T	G	36049997	2	3	67	1	0	0	0	0	0	0	0	1	9141	1683	59	5		5	MAB21L1	13	36049997	Silent	SNP	T	TCGA-BR-8286-01A-12D-2340-08	3138682	36049997	79119881	116	48424											
DCLK1	9201	broad.mit.edu	37	chr13	36367576	36367576	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aatgcttctttatctttccaGctactgacagctgatgttca	6	10	3	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr13:36367576G>C	uc001uvf.2	-	16	2218	c.1985C>G	c.(1984-1986)GCT>GGT	p.A662G	DCLK1_uc001uve.3_Missense_Mutation_p.A355G|DCLK1_uc010teh.1_Missense_Mutation_p.A355G|DCLK1_uc010abk.2_Missense_Mutation_p.A182G	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	662					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TATCTTTCCAGCTACTGACAG	0.338													C	36367576	G	C	36367576	3	2	67	1	0	0	0	0	1	0	0	0	4291	971	34	5	216	5	DCLK1	13	36367576	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	317579	36367576	78802302	117	48425											
FAM155A	728215	broad.mit.edu	37	chr13	108518522	108518522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcggttgcccttgccgccGccgccgccgccgtctcccgg	12	22	1	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr13:108518522G>A	uc001vql.2	-	1	939	c.423C>T	c.(421-423)GGC>GGT	p.G141G		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	141	Poly-Gly.					integral to membrane	binding			skin(1)	1						CCTTGCCGCCGCCGCCGCCGC	0.701													A	108518522	G	A	108518522	2	1	67	1	0	0	0	0	0	0	0	1	5465	1074	38	1		1	FAM155A	13	108518522	Silent	SNP	G	TCGA-BR-8286-01A-12D-2340-08	72150946	108518522	6651356	118	48426											
DAAM1	23002	broad.mit.edu	37	chr14	59791093	59791093	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttggactttagacttcatCttcgctatgaatttctgatg	8	7	3	3			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr14:59791093C>A	uc001xdz.1	+	8	1035	c.910C>A	c.(910-912)CTT>ATT	p.L304I	DAAM1_uc001xea.1_Missense_Mutation_p.L304I|DAAM1_uc001xeb.1_Missense_Mutation_p.L304I	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	304	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TAGACTTCATCTTCGCTATGA	0.279													A	59791093	C	A	59791093	3	1	67	1	0	0	0	0	1	0	0	0	4215	913	32	5	936	5	DAAM1	14	59791093	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08		59791093	47558447	119	48427											
NGB	58157	broad.mit.edu	37	chr14	77737252	77737252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactgcccgccagctctgcCggatcagctcgggctccggg	13	17	3	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr14:77737252C>T	uc001xtg.1	-	1	404	c.29G>A	c.(28-30)CGG>CAG	p.R10Q		NM_021257	NP_067080	Q9NPG2	NGB_HUMAN	neuroglobin	10	Globin.					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		CCAGCTCTGCCGGATCAGCTC	0.751													T	77737252	C	T	77737252	3	4	67	1	0	0	0	0	1	0	0	0	10392	652	23	1	442	1	NGB	14	77737252	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	17946159	77737252	29612288	120	48428											
SHC4	399694	broad.mit.edu	37	chr15	49148239	49148239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catatctgaaacaccacctaCtggtggctgcttccctggaa	8	13	1	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr15:49148239C>T	uc001zxb.1	-	8	1582	c.1153G>A	c.(1153-1155)GTA>ATA	p.V385I	SHC4_uc010uey.1_Missense_Mutation_p.V142I|SHC4_uc010uez.1_Missense_Mutation_p.V99I	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	rai-like protein	385	CH1.				intracellular signal transduction	cell junction|postsynaptic membrane				ovary(3)|pancreas(2)	5		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		ACACCACCTACTGGTGGCTGC	0.428													T	49148239	C	T	49148239	3	4	67	1	0	0	0	0	1	0	0	0	14273	565	20	4	759	4	SHC4	15	49148239	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08		49148239	53383153	121	48429											
HCN4	10021	broad.mit.edu	37	chr15	73615229	73615229	+	Frame_Shift_Del	DEL	G	G	-													ggtgagcgggggtgtgccccGgcgctgggggacctggggtg							TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr15:73615229delG	uc002avp.2	-	8	4199	c.3205delC	c.(3205-3207)CGGfs	p.R1069fs		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	1069	Pro-rich.|Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		GGTGTGCCCCGGCGCTGGGGG	0.726													-	73615229	G	-	73615229	7	5	67	1	0	1	0	1	0	0	0	0	6999	1115	39	0	410	0	HCN4	15	73615229	Frame_Shift_Del	DEL	G	TCGA-BR-8286-01A-12D-2340-08	24466990	73615229	28916163	122	48430											
ROGDI	79641	broad.mit.edu	37	chr16	4848162	4848162	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgttgaccagcaggtcggaCggcagggcaggggcgaacat	17	10	0	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr16:4848162C>T	uc002cxv.2	-	8	657	c.555G>A	c.(553-555)CCG>CCA	p.P185P	ROGDI_uc002cxu.2_Silent_p.P95P|ROGDI_uc010bua.2_RNA|ROGDI_uc002cxw.2_Silent_p.P95P	NM_024589	NP_078865	Q9GZN7	ROGDI_HUMAN	leucine zipper domain protein	185						intracellular				ovary(1)|skin(1)	2						GCAGGTCGGACGGCAGGGCAG	0.652													T	4848162	C	T	4848162	2	4	67	1	0	0	0	0	0	0	0	1	13520	523	19	1		1	ROGDI	16	4848162	Silent	SNP	C	TCGA-BR-8286-01A-12D-2340-08		4848162	85506591	123	48431											
GRIN2A	2903	broad.mit.edu	37	chr16	9857925	9857925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcgtggagtcccccttgCggaagttttcactgggatcc	13	12	1	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr16:9857925C>T	uc002czo.3	-	13	4024	c.3476G>A	c.(3475-3477)CGC>CAC	p.R1159H	GRIN2A_uc010uym.1_Missense_Mutation_p.R1159H|GRIN2A_uc010uyn.1_Missense_Mutation_p.R1002H|GRIN2A_uc002czr.3_Missense_Mutation_p.R1159H	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1159	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCCCCCTTGCGGAAGTTTTC	0.532													T	9857925	C	T	9857925	3	4	67	1	0	0	0	0	1	0	0	0	6779	768	27	1	922	1	GRIN2A	16	9857925	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	5009763	9857925	80496828	124	48432											
ATXN2L	11273	broad.mit.edu	37	chr16	28841303	28841303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccatggagaacgacgatGggcgcactgaagaggagaag	16	8	0	4			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr16:28841303G>A	uc002drc.2	+	8	1126	c.958G>A	c.(958-960)GGG>AGG	p.G320R	uc010vct.1_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.G320R|ATXN2L_uc002drb.2_Missense_Mutation_p.G320R|ATXN2L_uc002dqy.2_Missense_Mutation_p.G320R|ATXN2L_uc002dra.2_Missense_Mutation_p.G320R|ATXN2L_uc002dqz.2_Missense_Mutation_p.G320R|ATXN2L_uc010vdb.1_Missense_Mutation_p.G320R|ATXN2L_uc002dre.2_Missense_Mutation_p.G320R|ATXN2L_uc002drf.2_5'UTR	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	320						membrane				upper_aerodigestive_tract(1)|ovary(1)	2						GAACGACGATGGGCGCACTGA	0.612													A	28841303	G	A	28841303	3	1	67	1	0	0	0	0	1	0	0	0	1212	1348	47	4	988	4	ATXN2L	16	28841303	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	18983378	28841303	61513450	125	48433											
CES2	8824	broad.mit.edu	37	chr16	66976138	66976138	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatccctgcactccaagTagcacattttcagtgtgagt	9	10	1	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr16:66976138T>C	uc002eqr.2	+	9	2460	c.1460T>C	c.(1459-1461)GTA>GCA	p.V487A	CES2_uc002eqq.2_Missense_Mutation_p.V487A|CES2_uc002eqs.2_Missense_Mutation_p.V330A	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	423					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GCACTCCAAGTAGCACATTTT	0.567													C	66976138	T	C	66976138	3	2	67	1	0	0	0	0	1	0	0	0	3270	1638	57	3	1494	3	CES2	16	66976138	Missense_Mutation	SNP	T	TCGA-BR-8286-01A-12D-2340-08	38134835	66976138	23378615	126	48434											
EDC4	23644	broad.mit.edu	37	chr16	67918031	67918031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcatgctgcatggcctcGtgacccccagcctcccttag	9	18	1	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr16:67918031G>A	uc002eur.2	+	29	4352	c.4186G>A	c.(4186-4188)GTG>ATG	p.V1396M	EDC4_uc010cer.2_Missense_Mutation_p.V1015M|EDC4_uc002eus.2_Missense_Mutation_p.V1126M|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.2_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	1396					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GCATGGCCTCGTGACCCCCAG	0.632											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	67918031	G	A	67918031	3	1	67	1	0	0	0	0	1	0	0	0	4908	1145	40	1	4300	1	EDC4	16	67918031	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	941893	67918031	22436722	127	48435											
FTSJD1	55783	broad.mit.edu	37	chr16	71319389	71319389	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctataaaagctcctggagcTtcacaaaggtgtagagaatt	10	7	1	1	rs111584309		TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr16:71319389T>C	uc010cga.2	-	3	841	c.435A>G	c.(433-435)GAA>GAG	p.E145E	FTSJD1_uc002ezy.3_Silent_p.E145E|FTSJD1_uc002ezz.3_Silent_p.E145E	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN	FtsJ methyltransferase domain containing 1	145						integral to membrane	methyltransferase activity|nucleic acid binding			skin(1)	1						CTCCTGGAGCTTCACAAAGGT	0.418													C	71319389	T	C	71319389	2	2	67	1	0	0	0	0	0	0	0	1	6090	1606	56	3		3	FTSJD1	16	71319389	Silent	SNP	T	TCGA-BR-8286-01A-12D-2340-08	3401358	71319389	19035364	128	48436											
CHST6	4166	broad.mit.edu	37	chr16	75513372	75513372	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cacggcccactggaagaggtCggacaggttgcggcgccaag	16	12	0	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr16:75513372C>G	uc002fef.2	-	3	535	c.355G>C	c.(355-357)GAC>CAC	p.D119H	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.D119H	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	119	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						TGGAAGAGGTCGGACAGGTTG	0.657													G	75513372	C	G	75513372	3	3	67	1	0	0	0	0	1	0	0	0	3408	884	31	5	836	5	CHST6	16	75513372	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	4193983	75513372	14841381	129	48437											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	12	13	1	0	rs28934575		TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr17:7577548C>T	uc002gim.2	-	7	927	c.733G>A	c.(733-735)GGC>AGC	p.G245S	TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	245	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577548	C	T	7577548	3	4	67	1	0	0	0	0	1	0	0	0	16378	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08		7577548	73617662	130	48438											
SMCR7	125170	broad.mit.edu	37	chr17	18166065	18166065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcccagaaacgggggaagCggcgtagcgacgaagggctg	17	10	1	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr17:18166065C>T	uc002gst.2	+	2	242	c.31C>T	c.(31-33)CGG>TGG	p.R11W	SMCR7_uc002gsu.2_Missense_Mutation_p.R11W|SMCR7_uc010vxq.1_Missense_Mutation_p.R22W	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN	Smith-Magenis syndrome chromosome region,	11						integral to membrane	protein binding				0	all_neural(463;0.228)					ACGGGGGAAGCGGCGTAGCGA	0.672													T	18166065	C	T	18166065	3	4	67	1	0	0	0	0	1	0	0	0	14790	759	27	1	70	1	SMCR7	17	18166065	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	10588517	18166065	63029145	131	48439											
TBC1D29	26083	broad.mit.edu	37	chr17	28887643	28887643	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttccccacagatctctctCgggctcaccccgtgcctgtg	8	18	3	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr17:28887643C>T	uc002hfh.2	+	3	236	c.87C>T	c.(85-87)CTC>CTT	p.L29L	TBC1D29_uc002hfi.2_RNA|uc002hfj.1_5'Flank	NM_015594	NP_056409	Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	29	Rab-GAP TBC; truncated.					intracellular	Rab GTPase activator activity				0		Myeloproliferative disorder(56;0.0255)				AGATCTCTCTCGGGCTCACCC	0.552													T	28887643	C	T	28887643	2	4	67	1	0	0	0	0	0	0	0	1	15615	871	31	1		1	TBC1D29	17	28887643	Silent	SNP	C	TCGA-BR-8286-01A-12D-2340-08	10721578	28887643	52307567	132	48440											
SMARCE1	6605	broad.mit.edu	37	chr17	38792281	38792281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctaaagcagcttctgcaCgactttttgcatttatgtaa	6	10	2	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr17:38792281C>T	uc002hux.2	-	7	567	c.443G>A	c.(442-444)CGT>CAT	p.R148H	SMARCE1_uc010wff.1_Missense_Mutation_p.R113H|SMARCE1_uc010wfg.1_Missense_Mutation_p.R78H|SMARCE1_uc002huy.2_Missense_Mutation_p.R113H|SMARCE1_uc010wfh.1_Missense_Mutation_p.R78H|SMARCE1_uc010wfi.1_Missense_Mutation_p.R130H|SMARCE1_uc002huz.1_Missense_Mutation_p.R113H|SMARCE1_uc010wfj.1_Missense_Mutation_p.R130H	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	SWI/SNF-related matrix-associated	148					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity				0		Breast(137;0.000812)				AGCTTCTGCACGACTTTTTGC	0.413													T	38792281	C	T	38792281	3	4	67	1	0	0	0	0	1	0	0	0	14780	536	19	1	812	1	SMARCE1	17	38792281	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	9904638	38792281	42402929	133	48441											
DNAI2	64446	broad.mit.edu	37	chr17	72295929	72295929	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccagccaccgagaccctgTgtatggcaccatctggctgc	11	15	1	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr17:72295929T>C	uc002jkf.2	+	7	896	c.797T>C	c.(796-798)GTG>GCG	p.V266A	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	266	WD 3.				cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						CGAGACCCTGTGTATGGCACC	0.612									Kartagener_syndrome				C	72295929	T	C	72295929	3	2	67	1	0	0	0	0	1	0	0	0	4610	1696	59	3	819	3	DNAI2	17	72295929	Missense_Mutation	SNP	T	TCGA-BR-8286-01A-12D-2340-08	33503648	72295929	8899281	134	48442											
IER3IP1	51124	broad.mit.edu	37	chr18	44683851	44683851	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaataaggttcattagctgtGatttaattcccggctcttct	8	8	3	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr18:44683851G>A	uc002lcu.2	-	2	246	c.149C>T	c.(148-150)TCA>TTA	p.S50L		NM_016097	NP_057181	Q9Y5U9	IR3IP_HUMAN	immediate early response 3 interacting protein	50						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane					0						CATTAGCTGTGATTTAATTCC	0.378													A	44683851	G	A	44683851	3	1	67	1	0	0	0	0	1	0	0	0	7507	1294	45	4	107	4	IER3IP1	18	44683851	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08		44683851	33393397	135	48443											
SERPINB12	89777	broad.mit.edu	37	chr18	61231355	61231355	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctttctgtctaaatgcggTagtgtatcagaactcatggt	9	8	4	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr18:61231355T>C	uc010xen.1	+	5	645	c.645_splice	c.e5+2	p.A215_splice	SERPINB12_uc010xeo.1_Splice_Site_p.A235_splice	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	serine (or cysteine) proteinase inhibitor, clade						negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity				0						CTAAATGCGGTAGTGTATCAG	0.388													C	61231355	T	C	61231355	5	2	67	1	0	0	0	0	0	0	1	0	14099	1652	57	3	665	3	SERPINB12	18	61231355	Splice_Site	SNP	T	TCGA-BR-8286-01A-12D-2340-08	16547504	61231355	16845893	136	48444											
SERPINB13	5275	broad.mit.edu	37	chr18	61255944	61255944	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcactcgacttgggtttgatCttttcaaagagctgaagaaa	10	7	2	4			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr18:61255944C>A	uc002ljc.2	+	2	211	c.43C>A	c.(43-45)CTT>ATT	p.L15I	SERPINB13_uc002ljd.2_5'UTR|SERPINB13_uc010xep.1_Missense_Mutation_p.L15I|SERPINB13_uc010xeq.1_5'UTR|SERPINB13_uc010xer.1_5'UTR	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	serine (or cysteine) proteinase inhibitor, clade	15					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1						TGGGTTTGATCTTTTCAAAGA	0.453													A	61255944	C	A	61255944	3	1	67	1	0	0	0	0	1	0	0	0	14100	913	32	5	45	5	SERPINB13	18	61255944	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	24589	61255944	16821304	137	48445											
RFX2	5990	broad.mit.edu	37	chr19	6004219	6004219	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accccggacgcaccttggtcTggatgacctgttgtgggaag	14	11	1	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr19:6004219T>A	uc002meb.2	-	13	1762	c.1493A>T	c.(1492-1494)CAG>CTG	p.Q498L	RFX2_uc002mec.2_Missense_Mutation_p.Q473L	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						CACCTTGGTCTGGATGACCTG	0.597													A	6004219	T	A	6004219	3	1	67	1	0	0	0	0	1	0	0	0	13263	1580	55	5	702	5	RFX2	19	6004219	Missense_Mutation	SNP	T	TCGA-BR-8286-01A-12D-2340-08		6004219	53124764	138	48446											
ZNF266	10781	broad.mit.edu	37	chr19	9524819	9524819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtttctctccagtgtgaGtttttctgtgctgagtaagt	11	6	2	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr19:9524819G>A	uc002mll.2	-	4	1048	c.782C>T	c.(781-783)ACT>ATT	p.T261I	ZNF266_uc002mlm.2_Missense_Mutation_p.T261I|ZNF266_uc002mln.2_Missense_Mutation_p.T261I|ZNF266_uc002mlo.2_Missense_Mutation_p.T261I|ZNF266_uc010dwp.2_Missense_Mutation_p.T261I|ZNF266_uc010dwq.2_Missense_Mutation_p.T261I	NM_198058	NP_932175	Q14584	ZN266_HUMAN	zinc finger protein 266	261	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCCAGTGTGAGTTTTTCTGTG	0.433													A	9524819	G	A	9524819	3	1	67	1	0	0	0	0	1	0	0	0	17802	1029	36	4	871	4	ZNF266	19	9524819	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	3520600	9524819	49604164	139	48447											
ZNF181	339318	broad.mit.edu	37	chr19	35232159	35232159	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataagccatagtggagagaaAccttacaaatgtattgaatg	9	5	0	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr19:35232159A>G	uc002nvu.3	+	4	1336	c.873A>G	c.(871-873)AAA>AAG	p.K291K	ZNF181_uc010xsa.1_Silent_p.K290K|ZNF181_uc010xsb.1_Silent_p.K290K|ZNF181_uc010xsc.1_Silent_p.K226K	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	zinc finger protein 181 isoform 1	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GTGGAGAGAAACCTTACAAAT	0.428													G	35232159	A	G	35232159	2	3	67	1	0	0	0	0	0	0	0	1	17746	40	2	3		3	ZNF181	19	35232159	Silent	SNP	A	TCGA-BR-8286-01A-12D-2340-08	25707340	35232159	23896824	140	48448											
ZNF781	163115	broad.mit.edu	37	chr19	38160229	38160229	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgtgaattctctggtgTtgaataagagctgaacaatt	10	6	1	4			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr19:38160229T>C	uc002ogy.2	-	4	1563	c.821A>G	c.(820-822)AAC>AGC	p.N274S	ZNF781_uc002ogz.2_Missense_Mutation_p.N269S	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTCTCTGGTGTTGAATAAGAG	0.368													C	38160229	T	C	38160229	3	2	67	1	0	0	0	0	1	0	0	0	18151	1725	60	3	166	3	ZNF781	19	38160229	Missense_Mutation	SNP	T	TCGA-BR-8286-01A-12D-2340-08	2928070	38160229	20968754	141	48449											
RYR1	6261	broad.mit.edu	37	chr19	38948159	38948160	+	Frame_Shift_Ins	INS	-	-	TG													ctggacgtgctatgctccctINSgtgtgtgtgtaatggtgtgg							TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr19:38948158_38948159C>CTG	uc002oit.3	+	16	1943_1944	c.1813_1814C>CTG	c.(1813-1815)ctgfs	p.L605fs	RYR1_uc002oiu.3_Frame_Shift_Ins_p.L605fs	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	605	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTATGCTCCCTGTGTGTGTGT	0.535													TG	38948160	-	TG	38948159	7	5	67	1	0	1	1	0	0	0	0	0	13768	1580	55	0	1880	0	RYR1	19	38948159	Frame_Shift_Ins	INS	-	TCGA-BR-8286-01A-12D-2340-08	787930	38948159	20180824	142	48450											
LRFN1	57622	broad.mit.edu	37	chr19	39805107	39805107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacacaggaactcctcctcGgggatggaccagaagtagcg	12	12	1	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr19:39805107G>A	uc002okw.2	-	1	870	c.870C>T	c.(868-870)CCC>CCT	p.P290P		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	290	LRRCT.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			ACTCCTCCTCGGGGATGGACC	0.706													A	39805107	G	A	39805107	2	1	67	1	0	0	0	0	0	0	0	1	8937	1103	39	1		1	LRFN1	19	39805107	Silent	SNP	G	TCGA-BR-8286-01A-12D-2340-08	856948	39805107	19323876	143	48451											
PSG11	5680	broad.mit.edu	37	chr19	43523024	43523024	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtgacaccaaatagaaAgagggtcctgttggtttcag	11	7	1	3			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr19:43523024A>G	uc002ovm.1	-	3	714	c.607T>C	c.(607-609)TTT>CTT	p.F203L	PSG11_uc002ouw.2_Missense_Mutation_p.F209L|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.F209L|PSG11_uc002ovn.1_Missense_Mutation_p.F209L|PSG11_uc002ovo.1_Missense_Mutation_p.F81L|PSG11_uc002ovp.1_Missense_Mutation_p.F81L	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	203	Ig-like C2-type 1.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				CCAAATAGAAAGAGGGTCCTG	0.502													G	43523024	A	G	43523024	3	3	67	1	0	0	0	0	1	0	0	0	12654	72	3	3	412	3	PSG11	19	43523024	Missense_Mutation	SNP	A	TCGA-BR-8286-01A-12D-2340-08	3717917	43523024	15605959	144	48452											
CRX	1406	broad.mit.edu	37	chr19	48342758	48342758	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcagattcctacagtccccCtctgcccggcccctcaggct	7	20	3	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr19:48342758C>A	uc002phq.3	+	4	638	c.434C>A	c.(433-435)CCT>CAT	p.P145H		NM_000554	NP_000545	O43186	CRX_HUMAN	cone-rod homeobox protein	145					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TACAGTCCCCCTCTGCCCGGC	0.672													A	48342758	C	A	48342758	3	1	67	1	0	0	0	0	1	0	0	0	3902	681	24	5	444	5	CRX	19	48342758	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	4819734	48342758	10786225	145	48453											
VN1R2	317701	broad.mit.edu	37	chr19	53762734	53762734	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagcccttttgttctcatgtGccgtgaccccagcagatcca	8	14	1	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr19:53762734G>T	uc002qbi.2	+	1	1190	c.1106G>T	c.(1105-1107)TGC>TTC	p.C369F		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	369	Cytoplasmic (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0				GBM - Glioblastoma multiforme(134;0.00301)		GTTCTCATGTGCCGTGACCCC	0.428													T	53762734	G	T	53762734	3	4	67	1	0	0	0	0	1	0	0	0	17176	1319	46	5	1108	5	VN1R2	19	53762734	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	5419976	53762734	5366249	146	48454											
NLRP9	338321	broad.mit.edu	37	chr19	56235402	56235402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcacacaggtgtctgatGtcagactgggagaggctagt	14	8	3	3			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr19:56235402G>A	uc002qly.2	-	4	2131	c.2103C>T	c.(2101-2103)GAC>GAT	p.D701D		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	701						cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GGTGTCTGATGTCAGACTGGG	0.468													A	56235402	G	A	56235402	2	1	67	1	0	0	0	0	0	0	0	1	10484	1368	48	4		4	NLRP9	19	56235402	Silent	SNP	G	TCGA-BR-8286-01A-12D-2340-08	2472668	56235402	2893581	147	48455											
PEG3	5178	broad.mit.edu	37	chr19	57335005	57335005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaggactctcttctgttcCgggtcatgtcgtcgtcgctg	13	11	3	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr19:57335005C>T	uc002qnu.2	-	2	788	c.437G>A	c.(436-438)CGG>CAG	p.R146Q	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.R20Q|ZIM2_uc002qnq.2_Missense_Mutation_p.R20Q|ZIM2_uc010etp.2_Missense_Mutation_p.R20Q|ZIM2_uc010ygs.1_Missense_Mutation_p.R20Q|PEG3_uc002qnt.2_Missense_Mutation_p.R146Q|PEG3_uc002qnv.2_Missense_Mutation_p.R146Q|PEG3_uc002qnw.2_Missense_Mutation_p.R20Q|PEG3_uc002qnx.2_Missense_Mutation_p.R20Q|PEG3_uc010etr.2_Missense_Mutation_p.R146Q	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	146					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTTCTGTTCCGGGTCATGTC	0.552													T	57335005	C	T	57335005	3	4	67	1	0	0	0	0	1	0	0	0	11720	652	23	1	4359	1	PEG3	19	57335005	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	1099603	57335005	1793978	148	48456											
ZNF530	348327	broad.mit.edu	37	chr19	58117212	58117212	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagagacattttacaaatgAttgagctccatgcctcaccc	7	11	1	4			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr19:58117212A>C	uc002qpk.2	+	3	539	c.319A>C	c.(319-321)ATT>CTT	p.I107L	ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTTACAAATGATTGAGCTCCA	0.473													C	58117212	A	C	58117212	3	2	67	1	0	0	0	0	1	0	0	0	17968	333	12	5	329	5	ZNF530	19	58117212	Missense_Mutation	SNP	A	TCGA-BR-8286-01A-12D-2340-08	782207	58117212	1011771	149	48457											
ADARB1	104	broad.mit.edu	37	chr21	46602630	46602630	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataatatctcggagatccttGctcagatttctttatacaca	5	9	3	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr21:46602630G>T	uc002zgy.2	+	6	1644	c.1209G>T	c.(1207-1209)TTG>TTT	p.L403F	ADARB1_uc002zgr.2_Missense_Mutation_p.L403F|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.L403F|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.L403F|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	403	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		GGAGATCCTTGCTCAGATTTC	0.328													T	46602630	G	T	46602630	3	4	67	1	0	0	0	0	1	0	0	0	282	1310	46	5	1223	5	ADARB1	21	46602630	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08		46602630	1527265	150	48458											
CLTCL1	8218	broad.mit.edu	37	chr22	19207439	19207439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttggtctcctcaaggacGtgagcccagagctccggatc	14	12	2	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr22:19207439G>A	uc002zpb.2	-	18	2949	c.2874C>T	c.(2872-2874)CAC>CAT	p.H958H	CLTCL1_uc011agv.1_Silent_p.H958H|CLTCL1_uc011agw.1_Silent_p.H958H	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	958	Proximal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					CCTCAAGGACGTGAGCCCAGA	0.522			T	?	ALCL								A	19207439	G	A	19207439	2	1	67	1	0	0	0	0	0	0	0	1	3567	1136	40	1		1	CLTCL1	22	19207439	Silent	SNP	G	TCGA-BR-8286-01A-12D-2340-08		19207439	32097127	151	48459											
SEC14L4	284904	broad.mit.edu	37	chr22	30886231	30886231	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgttgtcgaagcgcaggaCatctgcagtgatggagaggt	17	6	1	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr22:30886231C>A	uc003aid.2	-	12	1184	c.1084G>T	c.(1084-1086)GTC>TTC	p.V362F	SEC14L4_uc011akz.1_Intron|SEC14L4_uc003aie.2_Missense_Mutation_p.V347F|SEC14L4_uc003aif.2_Missense_Mutation_p.M322I	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	SEC14p-like protein TAP3 isoform a	362	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			skin(1)	1					Vitamin E(DB00163)	AAGCGCAGGACATCTGCAGTG	0.587													A	30886231	C	A	30886231	3	1	67	1	0	0	0	0	1	0	0	0	13984	478	17	5	146	5	SEC14L4	22	30886231	Missense_Mutation	SNP	C	TCGA-BR-8286-01A-12D-2340-08	11678792	30886231	20418335	152	48460											
TMEM184B	25829	broad.mit.edu	37	chr22	38620889	38620889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacacagatgatgaagtcCtggtagccggcagccacggt	12	12	0	3			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr22:38620889C>T	uc003avf.1	-	8	1109	c.885G>A	c.(883-885)CAG>CAA	p.Q295Q	TMEM184B_uc003avg.1_Silent_p.Q295Q|TMEM184B_uc003avh.1_Silent_p.Q229Q	NM_012264	NP_036396	Q9Y519	T184B_HUMAN	transmembrane protein 184B	295	Helical; (Potential).					integral to membrane					0	Melanoma(58;0.045)					TGATGAAGTCCTGGTAGCCGG	0.617													T	38620889	C	T	38620889	2	4	67	1	0	0	0	0	0	0	0	1	16102	680	24	4		4	TMEM184B	22	38620889	Silent	SNP	C	TCGA-BR-8286-01A-12D-2340-08	7734658	38620889	12683677	153	48461											
PKDREJ	10343	broad.mit.edu	37	chr22	46656654	46656654	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atacatgttgaaattgggggTtctcattgaggtggttttgt	13	3	1	2			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr22:46656654T>C	uc003bhh.2	-	1	2566	c.2566A>G	c.(2566-2568)ACC>GCC	p.T856A		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	856	Extracellular (Potential).|REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAATTGGGGGTTCTCATTGAG	0.378													C	46656654	T	C	46656654	3	2	67	1	0	0	0	0	1	0	0	0	11970	1725	60	3	4199	3	PKDREJ	22	46656654	Missense_Mutation	SNP	T	TCGA-BR-8286-01A-12D-2340-08	8035765	46656654	4647912	154	48462											
ALG12	79087	broad.mit.edu	37	chr22	50302920	50302921	+	In_Frame_Ins	INS	-	-	GTG													ggagcttttgttcaggacagINStgttgtaccaaagcaccttt							TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr22:50302919_50302920A>AGTG	uc003biy.3	-	5	1014_1015	c.740_741T>CACT	c.(739-741)act>aCACT	p.T247T		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.	247					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TGTTCAGGACAGTGTTGTACCA	0.535													GTG	50302921	-	GTG	50302920	7	5	67	1	0	1	1	0	0	0	0	0	514	1029	36	0	746	0	ALG12	22	50302920	In_Frame_Ins	INS	-	TCGA-BR-8286-01A-12D-2340-08	3646266	50302920	1001646	155	48463											
MXRA5	25878	broad.mit.edu	37	chrX	3261861	3261861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagagggccccccagtgcGcgcgcttgggcatcttgtcg	16	14	1	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chrX:3261861G>A	uc004crg.3	-	2	171	c.14C>T	c.(13-15)GCG>GTG	p.A5V		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	5						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCCCCAGTGCGCGCGCTTGGG	0.627													A	3261861	G	A	3261861	3	1	67	1	0	0	0	0	1	0	0	0	10003	1087	38	1	8496	1	MXRA5	23	3261861	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08		3261861	152008699	156	48464											
CXorf23	256643	broad.mit.edu	37	chrX	19947942	19947942	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctttctctgaacttatgagtGataaatccccttgggccagt	8	10	1	3			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chrX:19947942G>A	uc004czp.2	-	10	1980	c.1980C>T	c.(1978-1980)ATC>ATT	p.I660I	CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Intron|CXorf23_uc004czo.2_Silent_p.I639I	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	hypothetical protein LOC256643	689						mitochondrion				lung(1)|skin(1)	2						ACTTATGAGTGATAAATCCCC	0.358													A	19947942	G	A	19947942	2	1	67	1	0	0	0	0	0	0	0	1	4103	1280	45	4		4	CXorf23	23	19947942	Silent	SNP	G	TCGA-BR-8286-01A-12D-2340-08	16686081	19947942	135322618	157	48465											
FAM47B	170062	broad.mit.edu	37	chrX	34962853	34962853	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaagtttacaagtacaaAgaagacgtcacagatgcatc	9	8	1	3			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chrX:34962853A>G	uc004ddi.1	+	1	1923	c.1905A>G	c.(1903-1905)AAA>AAG	p.K635K		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	635										ovary(3)|breast(1)	4						ACAAGTACAAAGAAGACGTCA	0.378													G	34962853	A	G	34962853	2	3	67	1	0	0	0	0	0	0	0	1	5570	69	3	3		3	FAM47B	23	34962853	Silent	SNP	A	TCGA-BR-8286-01A-12D-2340-08	15014911	34962853	120307707	158	48466											
SLC35A2	7355	broad.mit.edu	37	chrX	48762575	48762575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaggaggccacgacggctGccaggcctgccccagggttc	15	15	0	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chrX:48762575G>A	uc004dlo.1	-	4	615	c.611C>T	c.(610-612)GCA>GTA	p.A204V	SLC35A2_uc011mml.1_Missense_Mutation_p.A217V|SLC35A2_uc004dlp.1_Missense_Mutation_p.A204V|SLC35A2_uc011mmm.1_Missense_Mutation_p.A232V|SLC35A2_uc011mmn.1_Missense_Mutation_p.A143V|SLC35A2_uc004dlr.1_Intron|SLC35A2_uc004dlq.2_Intron	NM_005660	NP_005651	P78381	S35A2_HUMAN	solute carrier family 35, member A2 isoform a	204	Helical; (Potential).				galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)	1						CACGACGGCTGCCAGGCCTGC	0.642													A	48762575	G	A	48762575	3	1	67	1	0	0	0	0	1	0	0	0	14571	1319	46	2	743	2	SLC35A2	23	48762575	Missense_Mutation	SNP	G	TCGA-BR-8286-01A-12D-2340-08	13799722	48762575	106507985	159	48467											
PPP1R3F	89801	broad.mit.edu	37	chrX	49127037	49127037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatccgcctcctcgcccgaCgacggcggccgcaccgaccg	12	21	0	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chrX:49127037C>T	uc004dnh.1	+	1	721	c.705C>T	c.(703-705)GAC>GAT	p.D235D	PPP1R3F_uc011mnd.1_Intron|PPP1R3F_uc004dni.2_Intron	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	235	CBM21.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)					CCTCGCCCGACGACGGCGGCC	0.726													T	49127037	C	T	49127037	2	4	67	1	0	0	0	0	0	0	0	1	12375	535	19	1		1	PPP1R3F	23	49127037	Silent	SNP	C	TCGA-BR-8286-01A-12D-2340-08	364462	49127037	106143523	160	48468											
LAS1L	81887	broad.mit.edu	37	chrX	64744084	64744084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgcaggcccctgagcagGggctgccagaactgagagaa	16	10	0	4			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chrX:64744084G>A	uc004dwa.1	-	10	1224	c.1152C>T	c.(1150-1152)CCC>CCT	p.P384P	LAS1L_uc004dwc.1_Silent_p.P367P|LAS1L_uc004dwd.1_Silent_p.P325P	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	LAS1-like	384						MLL1 complex|nucleolus	protein binding			ovary(3)|large_intestine(1)	4						CCCTGAGCAGGGGCTGCCAGA	0.567													A	64744084	G	A	64744084	2	1	67	1	0	0	0	0	0	0	0	1	8636	1219	43	4		4	LAS1L	23	64744084	Silent	SNP	G	TCGA-BR-8286-01A-12D-2340-08	15617047	64744084	90526476	161	48469											
KLHL13	90293	broad.mit.edu	37	chrX	117043899	117043899	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttaaggctattactggaaAgcacgaaggcaagacgctca	11	9	1	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chrX:117043899A>C	uc004eql.2	-	5	793	c.731T>G	c.(730-732)CTT>CGT	p.L244R	KLHL13_uc004eqk.2_Missense_Mutation_p.L193R|KLHL13_uc011mtn.1_Missense_Mutation_p.L84R|KLHL13_uc011mto.1_Missense_Mutation_p.L238R|KLHL13_uc011mtp.1_Missense_Mutation_p.L246R|KLHL13_uc004eqm.2_Missense_Mutation_p.L193R|KLHL13_uc011mtq.1_Missense_Mutation_p.L228R	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	244	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)|skin(1)	2						ATTACTGGAAAGCACGAAGGC	0.463													C	117043899	A	C	117043899	3	2	67	1	0	0	0	0	1	0	0	0	8369	72	3	5	1248	5	KLHL13	23	117043899	Missense_Mutation	SNP	A	TCGA-BR-8286-01A-12D-2340-08	52299815	117043899	38226661	162	48470											
MAMLD1	10046	broad.mit.edu	37	chrX	149639247	149639247	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagctctctagcccaggcTtgccacagcagtccttcacc	8	16	2	1			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chrX:149639247T>C	uc004fee.1	+	3	1478	c.1402T>C	c.(1402-1404)TTG>CTG	p.L468L	MAMLD1_uc011mxt.1_Silent_p.L430L|MAMLD1_uc011mxu.1_Silent_p.L443L|MAMLD1_uc011mxv.1_Silent_p.L443L|MAMLD1_uc011mxw.1_Silent_p.L395L	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	468					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					TAGCCCAGGCTTGCCACAGCA	0.498													C	149639247	T	C	149639247	2	2	67	1	0	0	0	0	0	0	0	1	9208	1606	56	3		3	MAMLD1	23	149639247	Silent	SNP	T	TCGA-BR-8286-01A-12D-2340-08	32595348	149639247	5631313	163	48471											
ATP2B3	492	broad.mit.edu	37	chrX	152825250	152825250	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcatggacacatttgcctctCtggccctggcgacggagcca	11	14	2	0			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chrX:152825250C>T	uc004fht.1	+	16	2815	c.2689C>T	c.(2689-2691)CTG>TTG	p.L897L	ATP2B3_uc004fhs.1_Silent_p.L897L|ATP2B3_uc010nuf.1_5'Flank|ATP2B3_uc004fhu.1_5'Flank	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	897	Helical; (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATTTGCCTCTCTGGCCCTGGC	0.592													T	152825250	C	T	152825250	2	4	67	1	0	0	0	0	0	0	0	1	1141	912	32	4		4	ATP2B3	23	152825250	Silent	SNP	C	TCGA-BR-8286-01A-12D-2340-08	3186003	152825250	2445310	164	48472											
EIF4G3	8672	broad.mit.edu	37	chr1	21143964	21143964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgcttatacagctcttcgGcagacagttctttctttgaa	8	10	3	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:21143964G>A	uc001bec.2	-	29	4524	c.4268C>T	c.(4267-4269)GCC>GTC	p.A1423V	EIF4G3_uc010odi.1_Missense_Mutation_p.A1027V|EIF4G3_uc010odj.1_Missense_Mutation_p.A1422V|EIF4G3_uc009vpz.2_Missense_Mutation_p.A1143V|EIF4G3_uc001bed.2_Missense_Mutation_p.A1423V|EIF4G3_uc001bef.2_Missense_Mutation_p.A1459V|EIF4G3_uc001bee.2_Missense_Mutation_p.A1429V	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	1423	W2.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAGCTCTTCGGCAGACAGTTC	0.393													A	21143964	G	A	21143964	3	1	68	1	0	0	0	0	1	0	0	0	5038	1203	42	2	505	2	EIF4G3	1	21143964	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08		21143964	228106657	1	48473											
EPHA8	2046	broad.mit.edu	37	chr1	22913108	22913108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccgtgcagccctggaccCgccgtcctcagcctgcaccc	9	21	1	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:22913108C>T	uc001bfx.1	+	4	1084	c.959C>T	c.(958-960)CCG>CTG	p.P320L	EPHA8_uc001bfw.2_Missense_Mutation_p.P320L	NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	320	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCCCTGGACCCGCCGTCCTCA	0.672													T	22913108	C	T	22913108	3	4	68	1	0	0	0	0	1	0	0	0	5173	652	23	1	973	1	EPHA8	1	22913108	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	1769144	22913108	226337513	2	48474											
S100PBP	64766	broad.mit.edu	37	chr1	33321539	33321539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgatagaaactacgcccgccGacagaaacatctgcaaagat	8	12	1	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:33321539G>A	uc001bvz.2	+	7	1404	c.1127G>A	c.(1126-1128)CGA>CAA	p.R376Q	S100PBP_uc001bwc.2_Missense_Mutation_p.R376Q|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	376						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TACGCCCGCCGACAGAAACAT	0.463													A	33321539	G	A	33321539	3	1	68	1	0	0	0	0	1	0	0	0	13791	1058	37	1	1154	1	S100PBP	1	33321539	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	10408431	33321539	215929082	3	48475											
NCDN	23154	broad.mit.edu	37	chr1	36028833	36028833	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggctggtgccacctgacCgttgaagatgggccccggga	15	13	0	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:36028833C>T	uc001bza.2	+	6	1543	c.1416C>T	c.(1414-1416)ACC>ACT	p.T472T	NCDN_uc001bzb.2_Silent_p.T472T|NCDN_uc001bzc.2_Silent_p.T455T	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	472					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCACCTGACCGTTGAAGATG	0.587													T	36028833	C	T	36028833	2	4	68	1	0	0	0	0	0	0	0	1	10214	639	23	1		1	NCDN	1	36028833	Silent	SNP	C	TCGA-BR-8289-01A-11D-2340-08	2707294	36028833	213221788	4	48476											
CLDN19	149461	broad.mit.edu	37	chr1	43205530	43205530	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accgtccagggcgagcagcgAgtcgtagagcttgcactgca	14	12	0	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:43205530A>C	uc001cht.1	-	1	396	c.205T>G	c.(205-207)TCG>GCG	p.S69A	CLDN19_uc001chu.2_Missense_Mutation_p.S69A|CLDN19_uc010ojv.1_Missense_Mutation_p.S69A	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	claudin 19 isoform a	69	Extracellular (Potential).				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCGAGCAGCGAGTCGTAGAGC	0.642													C	43205530	A	C	43205530	3	2	68	1	0	0	0	0	1	0	0	0	3480	304	11	5	605	5	CLDN19	1	43205530	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	7176697	43205530	206045091	5	48477											
LRP8	7804	broad.mit.edu	37	chr1	53712697	53712697	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatcccatcctcagggtAgtccatcatcttcaaggctt	9	12	4	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:53712697A>G	uc001cvi.1	-	19	3027	c.2885T>C	c.(2884-2886)CTA>CCA	p.L962P	LRP8_uc001cvh.1_Missense_Mutation_p.L456P|LRP8_uc001cvk.1_Missense_Mutation_p.L792P|LRP8_uc001cvj.1_Missense_Mutation_p.L903P|LRP8_uc001cvl.1_Missense_Mutation_p.L699P	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	962	Cytoplasmic (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0						TCCTCAGGGTAGTCCATCATC	0.333													G	53712697	A	G	53712697	3	3	68	1	0	0	0	0	1	0	0	0	8963	420	15	3	10	3	LRP8	1	53712697	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	10507167	53712697	195537924	6	48478											
CA14	23632	broad.mit.edu	37	chr1	150233945	150233945	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgatattcagacagacagtgTgacatttgaccctgatttgc	9	9	1	5			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:150233945T>G	uc001etx.2	+	3	473	c.164T>G	c.(163-165)GTG>GGG	p.V55G		NM_012113	NP_036245	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV precursor	55	Extracellular (Potential).					integral to membrane	carbonate dehydratase activity|metal ion binding			ovary(1)	1	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACAGACAGTGTGACATTTGAC	0.557													G	150233945	T	G	150233945	3	3	68	1	0	0	0	0	1	0	0	0	2515	1696	59	5	174	5	CA14	1	150233945	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	96521248	150233945	99016676	7	48479											
TMOD4	29765	broad.mit.edu	37	chr1	151143000	151143000	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagttactcacgtagtTcattgtttcgggtcatggcc	10	10	4	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:151143000T>G	uc001exc.3	-	9	1200	c.1010A>C	c.(1009-1011)GAA>GCA	p.E337A	TMOD4_uc001exb.2_Missense_Mutation_p.E165A|TMOD4_uc001exd.2_RNA|TMOD4_uc010pct.1_Missense_Mutation_p.E268A	NM_013353	NP_037485	Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	337					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTCACGTAGTTCATTGTTTCG	0.542													G	151143000	T	G	151143000	3	3	68	1	0	0	0	0	1	0	0	0	16233	1783	62	5	35	5	TMOD4	1	151143000	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	909055	151143000	98107621	8	48480											
RPTN	126638	broad.mit.edu	37	chr1	152129286	152129286	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttcttgctgtgaggtccTgcctccatgtgacttattgt	9	11	1	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:152129286T>G	uc001ezs.1	-	3	354	c.289A>C	c.(289-291)AGG>CGG	p.R97R		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	97						proteinaceous extracellular matrix	calcium ion binding				0						TGTGAGGTCCTGCCTCCATGT	0.488													G	152129286	T	G	152129286	2	3	68	1	0	0	0	0	0	0	0	1	13664	1579	55	5		5	RPTN	1	152129286	Silent	SNP	T	TCGA-BR-8289-01A-11D-2340-08	986286	152129286	97121335	9	48481											
HRNR	388697	broad.mit.edu	37	chr1	152195644	152195644	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctttcagctctgccttgTtcaacgtatcatactcccca	5	14	5	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:152195644T>C	uc001ezt.1	-	2	162	c.86A>G	c.(85-87)AAC>AGC	p.N29S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	29	1 (Potential).|EF-hand 1.|S-100-like.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGCCTTGTTCAACGTATC	0.408													C	152195644	T	C	152195644	3	2	68	1	0	0	0	0	1	0	0	0	7359	1725	60	3	8474	3	HRNR	1	152195644	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	66358	152195644	97054977	10	48482											
LCE1B	353132	broad.mit.edu	37	chr1	152785235	152785235	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agccctccgggggctccagcTgctgtggaggagggagtggc	19	11	0	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:152785235T>A	uc001faq.2	+	1	789	c.313T>A	c.(313-315)TGC>AGC	p.C105S		NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	105	Gly-rich.				keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGCTCCAGCTGCTGTGGAGG	0.627													A	152785235	T	A	152785235	3	1	68	1	0	0	0	0	1	0	0	0	8660	1580	55	5	315	5	LCE1B	1	152785235	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	589591	152785235	96465386	11	48483											
AQP10	89872	broad.mit.edu	37	chr1	154295731	154295731	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacagatgccctacagaacTatacaggtgggaacctgaca	9	12	0	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:154295731T>C	uc001feu.2	+	4	425	c.385T>C	c.(385-387)TAT>CAT	p.Y129H	AQP10_uc001fev.2_Missense_Mutation_p.Y129H|ATP8B2_uc001few.2_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	aquaporin 10	129	Extracellular (Potential).				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)	1	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTACAGAACTATACAGGTGG	0.547													C	154295731	T	C	154295731	3	2	68	1	0	0	0	0	1	0	0	0	822	1522	53	3	399	3	AQP10	1	154295731	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	1510496	154295731	94954890	12	48484											
THBS3	7059	broad.mit.edu	37	chr1	155170258	155170258	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccatccccatccacgtcGttgtcacaggcatctccttc	6	18	2	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:155170258G>A	uc001fix.2	-	14	1715	c.1692C>T	c.(1690-1692)AAC>AAT	p.N564N	RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Silent_p.N555N|THBS3_uc001fiz.2_Silent_p.N527N|THBS3_uc001fiy.2_Silent_p.N93N|THBS3_uc010pfu.1_Silent_p.N444N|THBS3_uc010pfv.1_Intron|THBS3_uc001fja.2_RNA	NM_007112	NP_009043	P49746	TSP3_HUMAN	thrombospondin 3 precursor	564	TSP type-3 4.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(3)|ovary(2)	5	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CATCCACGTCGTTGTCACAGG	0.547													A	155170258	G	A	155170258	2	1	68	1	0	0	0	0	0	0	0	1	15852	1136	40	1		1	THBS3	1	155170258	Silent	SNP	G	TCGA-BR-8289-01A-11D-2340-08	874527	155170258	94080363	13	48485											
IFI16	3428	broad.mit.edu	37	chr1	158986333	158986333	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactttcagaaaagaaaaaAatcaaccaaagaaaaggctg	6	8	2	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:158986333A>C	uc001ftf.1	+	5	999	c.392A>C	c.(391-393)AAA>ACA	p.K131T	IFI16_uc001ftg.2_Missense_Mutation_p.K131T|IFI16_uc010pis.1_Intron	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	131	Lys-rich.|Nuclear localization signal (Potential).				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)					AAAAGAAAAAAATCAACCAAA	0.438													C	158986333	A	C	158986333	3	2	68	1	0	0	0	0	1	0	0	0	7511	14	1	5	402	5	IFI16	1	158986333	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	3816075	158986333	90264288	14	48486											
OR10J3	441911	broad.mit.edu	37	chr1	159284068	159284068	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaataccttagggggttgcAgatggccacatagcggtcat	13	8	1	2	rs141882038		TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:159284068A>G	uc010piu.1	-	1	382	c.382T>C	c.(382-384)TGC>CGC	p.C128R		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)					AGGGGGTTGCAGATGGCCACA	0.522													G	159284068	A	G	159284068	3	3	68	1	0	0	0	0	1	0	0	0	10911	188	7	3	609	3	OR10J3	1	159284068	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	297735	159284068	89966553	15	48487											
ATP1B1	481	broad.mit.edu	37	chr1	169100726	169100726	+	RNA	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaaggcgtacggtgagaAcattgggtacagtgagaaag	16	4	0	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:169100726A>C	uc001gfs.1	+	6		c.970A>C						P05026	AT1B1_HUMAN	Synthetic construct DNA, clone: pF1KB8186, Homo sapiens ATP1B1 gene for ATPase, Na+/K+ transporting, beta 1 polypeptide, without stop codon, in Flexi system.						ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	all_hematologic(923;0.208)					TACGGTGAGAACATTGGGTAC	0.458													C	169100726	A	C	169100726	1	2	68	0	1	0	0	0	0	0	0	0	1132	43	2	5		5	ATP1B1	1	169100726	RNA	SNP	A	TCGA-BR-8289-01A-11D-2340-08	9816658	169100726	80149895	16	48488											
PAPPA2	60676	broad.mit.edu	37	chr1	176668266	176668266	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtggatcagccctgcgagcCaagcttacaggcctggagcc	13	13	1	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:176668266C>G	uc001gkz.2	+	8	3941	c.2777C>G	c.(2776-2778)CCA>CGA	p.P926R	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	926					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						CCCTGCGAGCCAAGCTTACAG	0.547													G	176668266	C	G	176668266	3	3	68	1	0	0	0	0	1	0	0	0	11433	594	21	5	2856	5	PAPPA2	1	176668266	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	7567540	176668266	72582355	17	48489											
HMCN1	83872	broad.mit.edu	37	chr1	185966642	185966642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatcaacgcattgaatttcCatgtcctgcaaaaggtacgt	7	10	1	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:185966642C>A	uc001grq.1	+	25	4089	c.3860C>A	c.(3859-3861)CCA>CAA	p.P1287Q		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1287	Ig-like C2-type 10.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ATTGAATTTCCATGTCCTGCA	0.323													A	185966642	C	A	185966642	3	1	68	1	0	0	0	0	1	0	0	0	7220	594	21	5	3958	5	HMCN1	1	185966642	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	9298376	185966642	63283979	18	48490											
PIK3C2B	5287	broad.mit.edu	37	chr1	204438205	204438205	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacatctccgcatcataggtCgatttcaagttgagcctagt	8	10	3	1	rs146926130	byFrequency	TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:204438205C>T	uc001haw.2	-	3	1205	c.726G>A	c.(724-726)TCG>TCA	p.S242S	PIK3C2B_uc010pqv.1_Silent_p.S242S|PIK3C2B_uc001hax.1_Silent_p.S242S|PIK3C2B_uc009xbd.1_RNA	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	242	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CATCATAGGTCGATTTCAAGT	0.572													T	204438205	C	T	204438205	2	4	68	1	0	0	0	0	0	0	0	1	11910	871	31	1		1	PIK3C2B	1	204438205	Silent	SNP	C	TCGA-BR-8289-01A-11D-2340-08	18471563	204438205	44812416	19	48491											
RYR2	6262	broad.mit.edu	37	chr1	237580424	237580424	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagagacgctaagagttgcGtaagtagaacttctaaacac	9	8	1	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:237580424G>A	uc001hyl.1	+	11	968	c.848_splice	c.e11+1	p.A283_splice		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAAGAGTTGCGTAAGTAGAAC	0.448													A	237580424	G	A	237580424	5	1	68	1	0	0	0	0	0	0	1	0	13769	1159	40	1	891	1	RYR2	1	237580424	Splice_Site	SNP	G	TCGA-BR-8289-01A-11D-2340-08	33142219	237580424	11670197	20	48492											
PXDN	7837	broad.mit.edu	37	chr2	1652664	1652664	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggggatggggctctcgttcTcgtcccgcatgcactccgtg	14	13	2	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:1652664T>C	uc002qxa.2	-	17	2952	c.2888A>G	c.(2887-2889)GAG>GGG	p.E963G		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	963					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCTCTCGTTCTCGTCCCGCAT	0.721													C	1652664	T	C	1652664	3	2	68	1	0	0	0	0	1	0	0	0	12847	1551	54	3	1579	3	PXDN	2	1652664	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08		1652664	241546709	21	48493											
TP53I3	9540	broad.mit.edu	37	chr2	24303724	24303726	+	In_Frame_Del	DEL	TCT	TCT	-													gcgttgcttcagagaaatccTcttttttgtaattgaatcca					rs61758081	byFrequency	TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:24303723_24303725CTCT>C	uc002rey.2	-	3	1073_1075	c.583_585AGAG>G	c.(583-585)gag>G	p.E195del	LOC375190_uc002rew.3_Intron|TP53I3_uc002rex.2_In_Frame_Del_p.E195del|TP53I3_uc002rez.2_In_Frame_Del_p.E195del|TP53I3_uc010ykk.2_In_Frame_Del_p.E106del	NM_147184	NP_671713	Q53FA7	QORX_HUMAN	Homo sapiens tumor protein p53 inducible protein 3 (TP53I3), transcript variant 2, mRNA.	195					NADP metabolic process|induction of apoptosis by oxidative stress		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding	p.E195D(2)		endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGAGAAATCCTCTTTTTTGTAA	0.443													-	24303726	TCT	-	24303724	7	5	68	1	0	1	0	1	0	0	0	0	16384	1551	54	0	426	0	TP53I3	2	24303724	In_Frame_Del	DEL	TCT	TCGA-BR-8289-01A-11D-2340-08	22651060	24303724	218895649	22	48494											
ZC3H6	376940	broad.mit.edu	37	chr2	113088967	113088967	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaaaagaggcgatgatgaTgatgaagatacagaaagaga	12	4	0	8			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:113088967T>C	uc002thq.1	+	12	2866	c.2472T>C	c.(2470-2472)GAT>GAC	p.D824D		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	824							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4						GCGATGATGATGATGAAGATA	0.423													C	113088967	T	C	113088967	2	2	68	1	0	0	0	0	0	0	0	1	17568	1461	51	3		3	ZC3H6	2	113088967	Silent	SNP	T	TCGA-BR-8289-01A-11D-2340-08	88785243	113088967	130110406	23	48495											
TUBA3D	113457	broad.mit.edu	37	chr2	132240311	132240311	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acgtgggcgaaggcatggaaGagggagagttctctgaggcc	18	7	1	3	rs138195510		TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:132240311G>A	uc002tsu.3	+	5	1350	c.1243G>A	c.(1243-1245)GAG>AAG	p.E415K		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	415					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(221;0.13)		AGGCATGGAAGAGGGAGAGTT	0.597													A	132240311	G	A	132240311	3	1	68	1	0	0	0	0	1	0	0	0	16744	943	33	4	1261	4	TUBA3D	2	132240311	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	19151344	132240311	110959062	24	48496											
NCKAP5	344148	broad.mit.edu	37	chr2	133540288	133540288	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcctcaaaggcaacttacTtgggctcccatgctgactgc	9	13	1	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:133540288T>G	uc002ttp.2	-	14	4470	c.4096A>C	c.(4096-4098)AGT>CGT	p.S1366R	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1366							protein binding				0						GGCAACTTACTTGGGCTCCCA	0.632													G	133540288	T	G	133540288	3	3	68	1	0	0	0	0	1	0	0	0	10223	1609	56	5	1661	5	NCKAP5	2	133540288	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	1299977	133540288	109659085	25	48497											
LRP1B	53353	broad.mit.edu	37	chr2	141208232	141208232	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagttttgcaacgaaacTtaaaaaagaaaaaaagaaaa	6	4	1	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:141208232T>G	uc002tvj.1	-	63	10936	c.9964_splice	c.e63-1	p.F3322_splice		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCAACGAAACTTAAAAAAGAA	0.363										TSP Lung(27;0.18)			G	141208232	T	G	141208232	5	3	68	1	0	0	0	0	0	0	1	0	8955	1623	56	5	3953	5	LRP1B	2	141208232	Splice_Site	SNP	T	TCGA-BR-8289-01A-11D-2340-08	7667944	141208232	101991141	26	48498											
SCN3A	6328	broad.mit.edu	37	chr2	165952151	165952151	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcatatacaggctgaAgtttaacctaaatgatattg	6	6	2	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:165952151A>C	uc002ucx.2	-	25	4793	c.4301T>G	c.(4300-4302)CTT>CGT	p.L1434R	SCN3A_uc010zcy.1_5'Flank|SCN3A_uc002ucy.2_Missense_Mutation_p.L1385R|SCN3A_uc002ucz.2_Missense_Mutation_p.L1385R	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1434						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	TACAGGCTGAAGTTTAACCTA	0.264													C	165952151	A	C	165952151	3	2	68	1	0	0	0	0	1	0	0	0	13918	72	3	5	1717	5	SCN3A	2	165952151	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	24743919	165952151	77247222	27	48499											
TTN	7273	broad.mit.edu	37	chr2	179428834	179428834	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatatattgtcctccatcaGtccgtatacagtctttgaca	6	10	2	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:179428834G>T	uc010zfg.1	-	275	74545	c.74321C>A	c.(74320-74322)ACT>AAT	p.T24774N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T18469N|TTN_uc010zfi.1_Missense_Mutation_p.T18402N|TTN_uc010zfj.1_Missense_Mutation_p.T18277N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25701							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTCCATCAGTCCGTATACA	0.403													T	179428834	G	T	179428834	3	4	68	1	0	0	0	0	1	0	0	0	16732	1029	36	5	26102	5	TTN	2	179428834	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	13476683	179428834	63770539	28	48500											
GTF3C3	9330	broad.mit.edu	37	chr2	197656104	197656104	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaatatcgcctcttcacgTtctcctcgagcaaaacgaat	5	13	4	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:197656104T>G	uc002uts.2	-	4	582	c.492A>C	c.(490-492)GAA>GAC	p.E164D	GTF3C3_uc010zgu.1_Missense_Mutation_p.E164D|GTF3C3_uc002utu.2_Missense_Mutation_p.E164D	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	164	TPR 1.					transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						CCTCTTCACGTTCTCCTCGAG	0.418													G	197656104	T	G	197656104	3	3	68	1	0	0	0	0	1	0	0	0	6874	1722	60	5	2228	5	GTF3C3	2	197656104	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	18227270	197656104	45543269	29	48501											
NIF3L1	60491	broad.mit.edu	37	chr2	201757042	201757042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagagtcggtatctactctCctcatacagcctatgatgct	7	12	3	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:201757042C>T	uc002uwm.2	+	2	467	c.376C>T	c.(376-378)CCT>TCT	p.P126S	NIF3L1_uc002uwl.2_Missense_Mutation_p.P99S|NIF3L1_uc002uwn.2_Missense_Mutation_p.P99S|NIF3L1_uc002uwo.2_Missense_Mutation_p.P126S|NIF3L1_uc002uwp.2_Missense_Mutation_p.P126S|NIF3L1_uc002uwq.2_Missense_Mutation_p.P126S	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 isoform 1	126					positive regulation of transcription, DNA-dependent		transcription factor binding			skin(1)	1						TATCTACTCTCCTCATACAGC	0.522													T	201757042	C	T	201757042	3	4	68	1	0	0	0	0	1	0	0	0	10416	855	30	4	378	4	NIF3L1	2	201757042	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	4100938	201757042	41442331	30	48502											
ZDBF2	57683	broad.mit.edu	37	chr2	207171207	207171207	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gataaatcttctgaaggagaAgaatgctgaccttatggata	10	5	2	4			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:207171207A>C	uc002vbp.2	+	5	2205	c.1955A>C	c.(1954-1956)AAG>ACG	p.K652T		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	652	Potential.						nucleic acid binding|zinc ion binding			ovary(3)	3						CTGAAGGAGAAGAATGCTGAC	0.438													C	207171207	A	C	207171207	3	2	68	1	0	0	0	0	1	0	0	0	17596	72	3	5	1965	5	ZDBF2	2	207171207	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	5414165	207171207	36028166	31	48503			1	20		3	3	1742	A		7.9344e-05
ZDBF2	57683	broad.mit.edu	37	chr2	207171930	207171930	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccgaagtagctgttaaaaAgctaaatcctcaaaaagaag	7	8	1	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:207171930A>G	uc002vbp.2	+	5	2928	c.2678A>G	c.(2677-2679)AAG>AGG	p.K893R		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	893							nucleic acid binding|zinc ion binding			ovary(3)	3						GCTGTTAAAAAGCTAAATCCT	0.348													G	207171930	A	G	207171930	3	3	68	1	0	0	0	0	1	0	0	0	17596	72	3	3	2688	3	ZDBF2	2	207171930	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	723	207171930	36027443	32	48504			1	20		3	3	1742	A		7.9344e-05
ZDBF2	57683	broad.mit.edu	37	chr2	207172948	207172948	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagaagttgacacggaAgataggagaaatgaagctaa	13	3	0	6			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:207172948A>C	uc002vbp.2	+	5	3946	c.3696A>C	c.(3694-3696)GAA>GAC	p.E1232D		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1232							nucleic acid binding|zinc ion binding			ovary(3)	3						TTGACACGGAAGATAGGAGAA	0.428													C	207172948	A	C	207172948	3	2	68	1	0	0	0	0	1	0	0	0	17596	69	3	5	3706	5	ZDBF2	2	207172948	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	1018	207172948	36026425	33	48505			1	20		3	3	1742	A		7.9344e-05
FN1	2335	broad.mit.edu	37	chr2	216238071	216238071	+	Frame_Shift_Del	DEL	T	T	-													ttttccttccaatcaggggcTcgctcttctgattattcttc							TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:216238071delT	uc002vfa.2	-	39	6487	c.6221delA	c.(6220-6222)GAGfs	p.E2074fs	FN1_uc002vfb.2_Frame_Shift_Del_p.E1893fs|FN1_uc002vfc.2_Frame_Shift_Del_p.E1893fs|FN1_uc002vfd.2_Frame_Shift_Del_p.E2074fs|FN1_uc002vfe.2_Frame_Shift_Del_p.E1983fs|FN1_uc002vff.2_Frame_Shift_Del_p.E1983fs|FN1_uc002vfg.2_Frame_Shift_Del_p.E1893fs|FN1_uc002vfh.2_Frame_Shift_Del_p.E1893fs|FN1_uc002vfi.2_Frame_Shift_Del_p.E2074fs|FN1_uc002vfj.2_Frame_Shift_Del_p.E1984fs|FN1_uc002vez.2_Frame_Shift_Del_p.E268fs|FN1_uc010zjp.1_Frame_Shift_Del_p.E611fs|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA|FN1_uc010fvc.1_Frame_Shift_Del_p.E436fs|FN1_uc010fvd.1_Frame_Shift_Del_p.E165fs	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1983	Binds to FBLN1.|Heparin-binding 2.|Fibronectin type-III 15.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATCAGGGGCTCGCTCTTCTG	0.403													-	216238071	T	-	216238071	7	5	68	1	0	1	0	1	0	0	0	0	5962	1551	54	0	1244	0	FN1	2	216238071	Frame_Shift_Del	DEL	T	TCGA-BR-8289-01A-11D-2340-08	9065123	216238071	26961302	34	48506											
SERPINE2	5270	broad.mit.edu	37	chr2	224847456	224847456	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtcagtaatgccaagaacTttcagcggctccttcaaatc	7	11	3	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:224847456T>G	uc002vnu.2	-	6	1170	c.927A>C	c.(925-927)AAA>AAC	p.K309N	SERPINE2_uc002vnt.2_Missense_Mutation_p.K309N|SERPINE2_uc010zlr.1_Missense_Mutation_p.K321N|SERPINE2_uc002vnv.2_Missense_Mutation_p.K309N	NM_006216	NP_006207	P07093	GDN_HUMAN	plasminogen activator inhibitor type 1, member 2	309					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|ovary(1)|central_nervous_system(1)	4		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TGCCAAGAACTTTCAGCGGCT	0.338													G	224847456	T	G	224847456	3	3	68	1	0	0	0	0	1	0	0	0	14112	1606	56	5	285	5	SERPINE2	2	224847456	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	8609385	224847456	18351917	35	48507											
DOCK10	55619	broad.mit.edu	37	chr2	225659637	225659637	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgaatcttggccatacTttccagccaggtcctgcgta	10	12	1	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:225659637T>C	uc010fwz.1	-	45	5352	c.5113A>G	c.(5113-5115)AGT>GGT	p.S1705G	DOCK10_uc002vob.2_Missense_Mutation_p.S1699G|DOCK10_uc002voa.2_Missense_Mutation_p.S361G|DOCK10_uc002voc.2_Missense_Mutation_p.S559G	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1705	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTGGCCATACTTTCCAGCCAG	0.493													C	225659637	T	C	225659637	3	2	68	1	0	0	0	0	1	0	0	0	4685	1609	56	3	1495	3	DOCK10	2	225659637	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	812181	225659637	17539736	36	48508											
COL4A3	1285	broad.mit.edu	37	chr2	228135486	228135486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatttgtgtactaccctagGgtttcccaggtgcccagggt	11	11	1	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:228135486G>A	uc002vom.1	+	25	1738	c.1576G>A	c.(1576-1578)GGT>AGT	p.G526S	COL4A3_uc002von.1_Missense_Mutation_p.G526S|COL4A3_uc002voo.1_Missense_Mutation_p.G526S|COL4A3_uc002vop.1_Missense_Mutation_p.G526S|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	526	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ACTACCCTAGGGTTTCCCAGG	0.448													A	228135486	G	A	228135486	3	1	68	1	0	0	0	0	1	0	0	0	3691	1246	43	4	1674	4	COL4A3	2	228135486	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	2475849	228135486	15063887	37	48509											
PSMD1	5707	broad.mit.edu	37	chr2	231931790	231931790	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcattgctctggagacacgaAgactggacgtctttgaaaag	12	8	2	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:231931790A>T	uc002vrn.1	+	5	606	c.475A>T	c.(475-477)AGA>TGA	p.R159*	PSMD1_uc002vrm.1_Nonsense_Mutation_p.R159*|PSMD1_uc010fxu.1_Nonsense_Mutation_p.R23*	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	proteasome 26S non-ATPase subunit 1	159					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			ovary(1)|skin(1)	2		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GGAGACACGAAGACTGGACGT	0.383													T	231931790	A	T	231931790	4	4	68	1	0	0	0	0	0	1	0	0	12692	64	3	5	493	5	PSMD1	2	231931790	Nonsense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	3796304	231931790	11267583	38	48510											
PER2	8864	broad.mit.edu	37	chr2	239186565	239186565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctgggcggaaattccgCgtatccattcatgctgggct	15	10	1	0	rs35572922	byFrequency	TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:239186565C>T	uc002vyc.2	-	2	250	c.13G>A	c.(13-15)GCG>ACG	p.A5T	PER2_uc010znv.1_Missense_Mutation_p.A5T|PER2_uc010znw.1_Missense_Mutation_p.A5T|PER2_uc010fyx.1_Missense_Mutation_p.A5T	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	5					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGAAATTCCGCGTATCCATTC	0.602													T	239186565	C	T	239186565	3	4	68	1	0	0	0	0	1	0	0	0	11730	768	27	1	3842	1	PER2	2	239186565	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	7254775	239186565	4012808	39	48511											
NBEAL2	23218	broad.mit.edu	37	chr3	47047069	47047069	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtgaaggagctcatcccGgaattcttctactttcctga	9	10	3	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr3:47047069G>A	uc003cqp.2	+	41	6830	c.6651G>A	c.(6649-6651)CCG>CCA	p.P2217P	NBEAL2_uc010hjm.1_Silent_p.P1594P|NBEAL2_uc010hjn.1_Silent_p.P613P|NBEAL2_uc010hjo.1_5'UTR	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2217	BEACH.						binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGCTCATCCCGGAATTCTTCT	0.612													A	47047069	G	A	47047069	2	1	68	1	0	0	0	0	0	0	0	1	10189	1103	39	1		1	NBEAL2	3	47047069	Silent	SNP	G	TCGA-BR-8289-01A-11D-2340-08		47047069	150975361	40	48512											
QARS	5859	broad.mit.edu	37	chr3	49136421	49136421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggcacctggatgtccaagGactatagcaggagacaggag	15	8	0	1	rs144563810	byFrequency	TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr3:49136421G>A	uc003cvx.2	-	19	1765	c.1760C>T	c.(1759-1761)TCC>TTC	p.S587F	QARS_uc011bcc.1_Missense_Mutation_p.S40F|QARS_uc011bcd.1_Missense_Mutation_p.S442F|QARS_uc003cvy.2_Missense_Mutation_p.S442F|QARS_uc011bce.1_Missense_Mutation_p.S576F	NM_005051	NP_005042	P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	587					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GATGTCCAAGGACTATAGCAG	0.517													A	49136421	G	A	49136421	3	1	68	1	0	0	0	0	1	0	0	0	12871	1188	41	4	591	4	QARS	3	49136421	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	2089352	49136421	148886009	41	48513											
ERC2	26059	broad.mit.edu	37	chr3	56173555	56173555	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctcagtctgaaggatggcAgccctctgttctttggcagt	11	11	4	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr3:56173555A>G	uc003dhr.1	-	6	1711	c.1455T>C	c.(1453-1455)GCT>GCC	p.A485A		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	485	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GAAGGATGGCAGCCCTCTGTT	0.418													G	56173555	A	G	56173555	2	3	68	1	0	0	0	0	0	0	0	1	5211	175	7	3		3	ERC2	3	56173555	Silent	SNP	A	TCGA-BR-8289-01A-11D-2340-08	7037134	56173555	141848875	42	48514											
SNTN	132203	broad.mit.edu	37	chr3	63645500	63645500	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taaacttgaaaaagctattgCcaaagatctgctgcaaaccc	6	10	1	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr3:63645500C>G	uc003dlr.2	+	3	265	c.245C>G	c.(244-246)GCC>GGC	p.A82G		NM_001080537	NP_001074006	A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	82						cilium	calcium ion binding			ovary(1)	1						AAAGCTATTGCCAAAGATCTG	0.418													G	63645500	C	G	63645500	3	3	68	1	0	0	0	0	1	0	0	0	14876	739	26	5	255	5	SNTN	3	63645500	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	7471945	63645500	134376930	43	48515											
ROBO1	6091	broad.mit.edu	37	chr3	78680440	78680440	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgttcttgcccctttcTtgtgcccctgactccctaga	9	14	2	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr3:78680440T>A	uc003dqe.2	-	25	3705	c.3497A>T	c.(3496-3498)AAG>ATG	p.K1166M	ROBO1_uc003dqb.2_Missense_Mutation_p.K1127M|ROBO1_uc003dqc.2_Missense_Mutation_p.K1066M|ROBO1_uc003dqd.2_Missense_Mutation_p.K1121M|ROBO1_uc010hoh.2_Missense_Mutation_p.K358M|ROBO1_uc011bgl.1_Missense_Mutation_p.K738M	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1166	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGCCCCTTTCTTGTGCCCCTG	0.443													A	78680440	T	A	78680440	3	1	68	1	0	0	0	0	1	0	0	0	13513	1609	56	5	1486	5	ROBO1	3	78680440	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	15034940	78680440	119341990	44	48516											
BOC	91653	broad.mit.edu	37	chr3	113005559	113005559	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccttgtgccagttgaagaGgtggacagtcctgactcctg	14	10	0	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr3:113005559G>C	uc003dzx.2	+	20	3816	c.3195G>C	c.(3193-3195)GAG>GAC	p.E1065D	BOC_uc003dzy.2_Missense_Mutation_p.E1065D|BOC_uc003dzz.2_Missense_Mutation_p.E1066D|BOC_uc003eab.2_Missense_Mutation_p.E766D|BOC_uc003eac.2_Missense_Mutation_p.E380D	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	1065	Cytoplasmic (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			CAGTTGAAGAGGTGGACAGTC	0.582													C	113005559	G	C	113005559	3	2	68	1	0	0	0	0	1	0	0	0	1481	991	35	5	3265	5	BOC	3	113005559	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	34325119	113005559	85016871	45	48517											
CLSTN2	64084	broad.mit.edu	37	chr3	140280993	140280993	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctacagaccccaaatcagaAgtcttagaggaaatgcttca	7	11	3	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr3:140280993A>C	uc003etn.2	+	13	2245	c.2055A>C	c.(2053-2055)GAA>GAC	p.E685D		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	685	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						CCAAATCAGAAGTCTTAGAGG	0.478										HNSCC(16;0.037)			C	140280993	A	C	140280993	3	2	68	1	0	0	0	0	1	0	0	0	3562	69	3	5	2105	5	CLSTN2	3	140280993	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	27275434	140280993	57741437	46	48518											
IGSF10	285313	broad.mit.edu	37	chr3	151166629	151166629	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcagaggagaatcactgtaCaaagccaaaatttgccacac	7	10	2	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr3:151166629C>G	uc011bod.1	-	4	1140	c.1140G>C	c.(1138-1140)TTG>TTC	p.L380F		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	380					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATCACTGTACAAAGCCAAAA	0.398													G	151166629	C	G	151166629	3	3	68	1	0	0	0	0	1	0	0	0	7597	477	17	5	6791	5	IGSF10	3	151166629	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	10885636	151166629	46855801	47	48519											
C3orf79	152118	broad.mit.edu	37	chr3	153220203	153220203	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attaaacaggaaagaagattCaaggaggaactgaaatacag	10	4	1	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr3:153220203C>T	uc003ezt.2	+	3	297	c.235C>T	c.(235-237)CAA>TAA	p.Q79*		NM_001101337	NP_001094807	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	79											0						AAAGAAGATTCAAGGAGGAAC	0.388													T	153220203	C	T	153220203	4	4	68	1	0	0	0	0	0	1	0	0	2246	827	29	4	245	4	C3orf79	3	153220203	Nonsense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	2053574	153220203	44802227	48	48520											
MLF1	4291	broad.mit.edu	37	chr3	158315949	158315949	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaaaataggagatgaaccGccaaaggtttttcaggcctc	9	10	1	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr3:158315949G>A	uc003fcb.2	+	4	497	c.360G>A	c.(358-360)CCG>CCA	p.P120P	MLF1_uc003fbz.2_Silent_p.P95P|MLF1_uc003fca.2_Silent_p.P95P|MLF1_uc003fbx.2_Silent_p.P110P|MLF1_uc003fcc.2_Silent_p.P151P|MLF1_uc003fby.2_Silent_p.P46P|MLF1_uc010hvx.2_Intron	NM_022443	NP_071888	P58340	MLF1_HUMAN	myeloid leukemia factor 1 isoform 1	120	Interaction with COPS3.				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding				0		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			GAGATGAACCGCCAAAGGTTT	0.383			T	NPM1	AML								A	158315949	G	A	158315949	2	1	68	1	0	0	0	0	0	0	0	1	9614	1074	38	1		1	MLF1	3	158315949	Silent	SNP	G	TCGA-BR-8289-01A-11D-2340-08	5095746	158315949	39706481	49	48521											
GFM1	85476	broad.mit.edu	37	chr3	158364655	158364655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaatcgtcagatgaagcGctacaacgttccgtttctaa	8	10	3	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr3:158364655G>A	uc003fce.2	+	4	598	c.491G>A	c.(490-492)CGC>CAC	p.R164H	GFM1_uc003fcd.2_Missense_Mutation_p.R164H|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Missense_Mutation_p.R76H	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1 precursor	164					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CAGATGAAGCGCTACAACGTT	0.498													A	158364655	G	A	158364655	3	1	68	1	0	0	0	0	1	0	0	0	6341	1087	38	1	505	1	GFM1	3	158364655	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	48706	158364655	39657775	50	48522											
SLITRK3	22865	broad.mit.edu	37	chr3	164905717	164905717	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgttgtcttctccaggacttCgaggtaatccggcttggttt	11	9	2	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr3:164905717C>G	uc003fej.3	-	2	3346	c.2902G>C	c.(2902-2904)GAA>CAA	p.E968Q	SLITRK3_uc003fek.2_Missense_Mutation_p.E968Q	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	968	Cytoplasmic (Potential).					integral to membrane		p.E968*(1)		ovary(6)|skin(3)|pancreas(1)	10						TCCAGGACTTCGAGGTAATCC	0.388										HNSCC(40;0.11)			G	164905717	C	G	164905717	3	3	68	1	0	0	0	0	1	0	0	0	14744	893	31	5	35	5	SLITRK3	3	164905717	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	6541062	164905717	33116713	51	48523											
MRFAP1L1	114932	broad.mit.edu	37	chr4	6710983	6710983	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctcctccttcaagaagacTcgcttctctctattcgccag	5	15	4	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr4:6710983T>C	uc003gjn.2	-	1	614	c.374A>G	c.(373-375)GAG>GGG	p.E125G	MRFAP1L1_uc003gjo.2_Missense_Mutation_p.E125G	NM_203462	NP_982287	Q96HT8	MR1L1_HUMAN	Morf4 family associated protein 1-like 1	125											0						TCAAGAAGACTCGCTTCTCTC	0.527													C	6710983	T	C	6710983	3	2	68	1	0	0	0	0	1	0	0	0	9762	1551	54	3	13	3	MRFAP1L1	4	6710983	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08		6710983	184443293	52	48524											
KLF3	51274	broad.mit.edu	37	chr4	38696529	38696529	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagaagaacacacacaggTaatagaaacaccagacccac	6	13	0	4			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr4:38696529T>C	uc003gth.3	+	5	1188	c.856_splice	c.e5+2	p.G286_splice		NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)						multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						CACACACAGGTAATAGAAACA	0.398													C	38696529	T	C	38696529	5	2	68	1	0	0	0	0	0	0	1	0	8347	1652	57	3	872	3	KLF3	4	38696529	Splice_Site	SNP	T	TCGA-BR-8289-01A-11D-2340-08	31985546	38696529	152457747	53	48525											
GABRA2	2555	broad.mit.edu	37	chr4	46307630	46307630	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccgattgattggcccagcaGgtcatattgatttaacctag	9	9	1	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr4:46307630G>T	uc003gxc.3	-	6	1331	c.658C>A	c.(658-660)CTG>ATG	p.L220M	GABRA2_uc010igc.2_Missense_Mutation_p.L220M|GABRA2_uc011bzc.1_Missense_Mutation_p.L165M|GABRA2_uc003gxe.2_Missense_Mutation_p.L220M	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	220	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGGCCCAGCAGGTCATATTGA	0.363													T	46307630	G	T	46307630	3	4	68	1	0	0	0	0	1	0	0	0	6161	991	35	5	713	5	GABRA2	4	46307630	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	7611101	46307630	144846646	54	48526											
GABRA4	2557	broad.mit.edu	37	chr4	46930536	46930536	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatatccagttcggatagaAgtaggagaagcagatggaag	13	4	0	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr4:46930536A>C	uc003gxg.2	-	9	1510	c.1371T>G	c.(1369-1371)ACT>ACG	p.T457T		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	457	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCGGATAGAAGTAGGAGAAG	0.473													C	46930536	A	C	46930536	2	2	68	1	0	0	0	0	0	0	0	1	6163	59	3	5		5	GABRA4	4	46930536	Silent	SNP	A	TCGA-BR-8289-01A-11D-2340-08	622906	46930536	144223740	55	48527											
ADAMTS3	9508	broad.mit.edu	37	chr4	73280572	73280572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatgtctatgggagcctgTtctacagctgatctcttgta	10	9	3	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr4:73280572T>G	uc003hgk.1	-	4	658	c.621A>C	c.(619-621)GAA>GAC	p.E207D		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	207					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGGAGCCTGTTCTACAGCTG	0.368													G	73280572	T	G	73280572	3	3	68	1	0	0	0	0	1	0	0	0	267	1722	60	5	3072	5	ADAMTS3	4	73280572	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	26350036	73280572	117873704	56	48528											
PRKG2	5593	broad.mit.edu	37	chr4	82090920	82090920	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatgttttaacattggtaaTagctttagaaaattcaagaa	6	5	1	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr4:82090920T>C	uc003hmh.2	-	4	759	c.745A>G	c.(745-747)ATT>GTT	p.I249V	PRKG2_uc011cch.1_Missense_Mutation_p.I249V	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	249	cGMP 1.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						ACATTGGTAATAGCTTTAGAA	0.318													C	82090920	T	C	82090920	3	2	68	1	0	0	0	0	1	0	0	0	12523	1406	49	3	1603	3	PRKG2	4	82090920	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	8810348	82090920	109063356	57	48529											
RASGEF1B	153020	broad.mit.edu	37	chr4	82355043	82355043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatactgcaagatcttccgGtccctctcaaatggacactc	7	13	2	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr4:82355043G>A	uc003hmi.1	-	12	1419	c.1275C>T	c.(1273-1275)GAC>GAT	p.D425D	RASGEF1B_uc003hmj.1_Silent_p.D424D|RASGEF1B_uc010ijq.1_Silent_p.D383D	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	425	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						AGATCTTCCGGTCCCTCTCAA	0.408													A	82355043	G	A	82355043	2	1	68	1	0	0	0	0	0	0	0	1	13070	1252	44	4		4	RASGEF1B	4	82355043	Silent	SNP	G	TCGA-BR-8289-01A-11D-2340-08	264123	82355043	108799233	58	48530											
KIAA0947	23379	broad.mit.edu	37	chr5	5464018	5464018	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtatatggattagttctcAaatctatgatcaaaacttcg	6	6	3	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:5464018A>C	uc003jdm.3	+	13	4793	c.4571A>C	c.(4570-4572)CAA>CCA	p.Q1524P		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1524										ovary(1)|central_nervous_system(1)	2						ATTAGTTCTCAAATCTATGAT	0.393													C	5464018	A	C	5464018	3	2	68	1	0	0	0	0	1	0	0	0	8202	130	5	5	4621	5	KIAA0947	5	5464018	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08		5464018	175451242	59	48531											
CDH12	1010	broad.mit.edu	37	chr5	21755799	21755799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attacaagacaggatggtgcCatcagagtcacatctacaga	9	9	3	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:21755799C>T	uc010iuc.2	-	11	2244	c.1786G>A	c.(1786-1788)GGC>AGC	p.G596S	CDH12_uc011cno.1_Missense_Mutation_p.G556S|CDH12_uc003jgk.2_Missense_Mutation_p.G596S|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	596	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						AGGATGGTGCCATCAGAGTCA	0.433										HNSCC(59;0.17)			T	21755799	C	T	21755799	3	4	68	1	0	0	0	0	1	0	0	0	3098	594	21	4	606	4	CDH12	5	21755799	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	16291781	21755799	159159461	60	48532											
CDH10	1008	broad.mit.edu	37	chr5	24491771	24491771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagggcttcagcactgcagGattgcatgttgccttggctg	14	10	1	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:24491771G>A	uc003jgr.1	-	11	2122	c.1790C>T	c.(1789-1791)TCC>TTC	p.S597F	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	597	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		AGCACTGCAGGATTGCATGTT	0.527										HNSCC(23;0.051)			A	24491771	G	A	24491771	3	1	68	1	0	0	0	0	1	0	0	0	3096	1174	41	4	584	4	CDH10	5	24491771	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	2735972	24491771	156423489	61	48533											
CDH9	1007	broad.mit.edu	37	chr5	26988365	26988365	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taaataactgttaggtttttCttgtaataggatggtgtcaa	9	3	2	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:26988365C>T	uc003jgs.1	-	2	245	c.76G>A	c.(76-78)GAA>AAA	p.E26K	CDH9_uc010iug.2_Missense_Mutation_p.E26K	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	26					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						TTAGGTTTTTCTTGTAATAGG	0.398													T	26988365	C	T	26988365	3	4	68	1	0	0	0	0	1	0	0	0	3117	922	32	4	2337	4	CDH9	5	26988365	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	2496594	26988365	153926895	62	48534											
NLN	57486	broad.mit.edu	37	chr5	65073295	65073295	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaaacctgaggccagacgAtacttggaaaagtcaattaa	8	7	1	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:65073295A>G	uc003juf.2	+	4	608	c.492A>G	c.(490-492)CGA>CGG	p.R164R	NLN_uc003jue.2_Silent_p.R164R|NLN_uc003jug.2_5'UTR	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	neurolysin precursor	164					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AGGCCAGACGATACTTGGAAA	0.358													G	65073295	A	G	65073295	2	3	68	1	0	0	0	0	0	0	0	1	10467	320	12	3		3	NLN	5	65073295	Silent	SNP	A	TCGA-BR-8289-01A-11D-2340-08	38084930	65073295	115841965	63	48535											
AP3B1	8546	broad.mit.edu	37	chr5	77334987	77334987	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgtatagagaccatcttatCaccaaaaatgcaaggctgtc	7	9	2	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:77334987C>G	uc003kfj.2	-	23	2814	c.2689G>C	c.(2689-2691)GAT>CAT	p.D897H		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	897					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ACCATCTTATCACCAAAAATG	0.373									Hermansky-Pudlak_syndrome				G	77334987	C	G	77334987	3	3	68	1	0	0	0	0	1	0	0	0	744	826	29	5	615	5	AP3B1	5	77334987	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	12261692	77334987	103580273	64	48536											
GPR98	84059	broad.mit.edu	37	chr5	89979689	89979689	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatattcattttttctgagaAaaacagacctgttaaagttg	7	5	2	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:89979689A>C	uc003kju.2	+	28	6047	c.5951A>C	c.(5950-5952)AAA>ACA	p.K1984T	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1984	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTTCTGAGAAAAACAGACCT	0.398													C	89979689	A	C	89979689	3	2	68	1	0	0	0	0	1	0	0	0	6721	14	1	5	6061	5	GPR98	5	89979689	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	12644702	89979689	90935571	65	48537											
GIN1	54826	broad.mit.edu	37	chr5	102432413	102432413	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgaccatccttccaccaatTtttcctttgtcttaaaactt	2	13	1	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:102432413T>G	uc003koa.1	-	7	1208	c.1126A>C	c.(1126-1128)AAT>CAT	p.N376H	GIN1_uc003kob.1_Missense_Mutation_p.N229H|GIN1_uc003koc.1_Intron	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	zinc finger, H2C2 domain containing	376					DNA integration		DNA binding			ovary(1)|skin(1)	2		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TTCCACCAATTTTTCCTTTGT	0.363													G	102432413	T	G	102432413	3	3	68	1	0	0	0	0	1	0	0	0	6386	1841	64	5	450	5	GIN1	5	102432413	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	12452724	102432413	78482847	66	48538											
EPB41L4A	64097	broad.mit.edu	37	chr5	111541193	111541193	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctattttcattctttgctTtcttaaagctttaattttaa	4	6	3	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:111541193T>C	uc003kpv.1	-	14	1461	c.1187A>G	c.(1186-1188)AAA>AGA	p.K396R	EPB41L4A_uc003kpp.1_Missense_Mutation_p.K23R	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	396						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		ATTCTTTGCTTTCTTAAAGCT	0.289													C	111541193	T	C	111541193	3	2	68	1	0	0	0	0	1	0	0	0	5155	1841	64	3	913	3	EPB41L4A	5	111541193	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	9108780	111541193	69374067	67	48539											
PCDHA10	56139	broad.mit.edu	37	chr5	140237119	140237119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctactctctggtggagCggcggttgggcgagcgctcg	17	11	1	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:140237119C>T	uc003lhx.2	+	1	1486	c.1486C>T	c.(1486-1488)CGG>TGG	p.R496W	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.R496W|PCDHA10_uc011dad.1_Missense_Mutation_p.R496W	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	496	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGTGGAGCGGCGGTTGGG	0.672													T	140237119	C	T	140237119	3	4	68	1	0	0	0	0	1	0	0	0	11520	759	27	1	1488	1	PCDHA10	5	140237119	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	28695926	140237119	40678141	68	48540											
PCDHGB2	56103	broad.mit.edu	37	chr5	140742086	140742086	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acaaaatacaaatcatggagCcgctggggtcccttttgcct	9	11	1	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:140742086C>G	uc003ljs.1	+	1	2384	c.2384C>G	c.(2383-2385)GCC>GGC	p.A795G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.A795G|PCDHGA5_uc011das.1_5'Flank	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	795	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCATGGAGCCGCTGGGGTC	0.408													G	140742086	C	G	140742086	3	3	68	1	0	0	0	0	1	0	0	0	11563	739	26	5	2386	5	PCDHGB2	5	140742086	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	504967	140742086	40173174	69	48541											
GABRA6	2559	broad.mit.edu	37	chr5	161113276	161113276	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactcgaagttgaaggcaacTtctactcagaaaacgtcagt	8	9	3	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:161113276T>G	uc003lyu.2	+	2	417	c.79T>G	c.(79-81)TTC>GTC	p.F27V		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	27	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGAAGGCAACTTCTACTCAGA	0.478										TCGA Ovarian(5;0.080)			G	161113276	T	G	161113276	3	3	68	1	0	0	0	0	1	0	0	0	6165	1609	56	5	85	5	GABRA6	5	161113276	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	20371190	161113276	19801984	70	48542											
LMAN2	10960	broad.mit.edu	37	chr5	176765499	176765499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcccacctggcacgagGcggtcccgggtgtaccacaa	12	16	0	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:176765499G>A	uc003mge.2	-	3	660	c.423C>T	c.(421-423)CGC>CGT	p.R141R	LMAN2_uc003mgd.2_Silent_p.R141R	NM_006816	NP_006807	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2 precursor	141	Lumenal (Potential).|L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGCACGAGGCGGTCCCGGG	0.652													A	176765499	G	A	176765499	2	1	68	1	0	0	0	0	0	0	0	1	8838	1190	42	2		2	LMAN2	5	176765499	Silent	SNP	G	TCGA-BR-8289-01A-11D-2340-08	15652223	176765499	4149761	71	48543											
ZNF454	285676	broad.mit.edu	37	chr5	178392185	178392185	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgagctcctcacttacGtaccatcagaaaattcatac	5	12	4	2	rs149750769		TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:178392185G>A	uc003mjo.1	+	5	1051	c.780G>A	c.(778-780)ACG>ACA	p.T260T	ZNF454_uc010jkz.1_Silent_p.T260T	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	260	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		CCTCACTTACGTACCATCAGA	0.418													A	178392185	G	A	178392185	2	1	68	1	0	0	0	0	0	0	0	1	17920	1132	40	1		1	ZNF454	5	178392185	Silent	SNP	G	TCGA-BR-8289-01A-11D-2340-08	1626686	178392185	2523075	72	48544											
KIF13A	63971	broad.mit.edu	37	chr6	17794587	17794587	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcagtgtccctgaatgctGcacaggtttcaccgtgactt	11	11	1	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:17794587G>T	uc003ncg.3	-	25	3220	c.3115C>A	c.(3115-3117)CAG>AAG	p.Q1039K	KIF13A_uc003ncf.2_Missense_Mutation_p.Q1039K|KIF13A_uc003nch.3_Missense_Mutation_p.Q1039K|KIF13A_uc003nci.3_Missense_Mutation_p.Q1039K	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1039					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CCTGAATGCTGCACAGGTTTC	0.517													T	17794587	G	T	17794587	3	4	68	1	0	0	0	0	1	0	0	0	8274	1328	46	5	2387	5	KIF13A	6	17794587	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08		17794587	153320480	73	48545											
HIST1H3J	8356	broad.mit.edu	37	chr6	27858243	27858243	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttggcgtgaatagcacagaGgttggtgtcttcaaagagac	13	7	2	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:27858243G>C	uc003nka.2	-	1	328	c.328C>G	c.(328-330)CTC>GTC	p.L110V	HIST1H2BO_uc003nkc.1_5'Flank	NM_003535	NP_003526	P68431	H31_HUMAN	histone cluster 1, H3j	110					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						ATAGCACAGAGGTTGGTGTCT	0.552													C	27858243	G	C	27858243	3	2	68	1	0	0	0	0	1	0	0	0	7164	1000	35	5	86	5	HIST1H3J	6	27858243	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	10063656	27858243	143256824	74	48546											
VARS	7407	broad.mit.edu	37	chr6	31748259	31748259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaacccttcccaaggccacGaagggcaaacttggtggcat	10	12	0	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:31748259G>A	uc003nxe.2	-	25	3307	c.2884C>T	c.(2884-2886)CGT>TGT	p.R962C	VARS_uc003nxf.1_5'Flank	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	962					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	CCAAGGCCACGAAGGGCAAAC	0.602													A	31748259	G	A	31748259	3	1	68	1	0	0	0	0	1	0	0	0	17120	1058	37	1	934	1	VARS	6	31748259	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	3890016	31748259	139366808	75	48547											
TULP1	7287	broad.mit.edu	37	chr6	35478785	35478785	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtcctcctcttcctcctcctCctctgcaggtagaaactctt	5	17	3	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:35478785C>A	uc003okv.3	-	5	364	c.352G>T	c.(352-354)GAG>TAG	p.E118*	TULP1_uc003okw.3_Nonsense_Mutation_p.E65*	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	118	Poly-Glu.				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			ovary(2)|central_nervous_system(1)	3						tcctcctcctcctcTGCAGGT	0.383													A	35478785	C	A	35478785	4	1	68	1	0	0	0	0	0	1	0	0	16770	864	30	5	1320	5	TULP1	6	35478785	Nonsense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	3730526	35478785	135636282	76	48548											
TDRD6	221400	broad.mit.edu	37	chr6	46657864	46657864	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccaagctggatatgccAagtatcaggaatttgaaaca	9	8	1	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:46657864A>G	uc003oyj.2	+	1	1999	c.1999A>G	c.(1999-2001)AAG>GAG	p.K667E	TDRD6_uc010jze.2_Missense_Mutation_p.K661E	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	667					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			TGGATATGCCAAGTATCAGGA	0.378													G	46657864	A	G	46657864	3	3	68	1	0	0	0	0	1	0	0	0	15731	131	5	3	2001	3	TDRD6	6	46657864	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	11179079	46657864	124457203	77	48549											
C6orf150	115004	broad.mit.edu	37	chr6	74161872	74161872	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggctccggcctcggaagcTctctgcatggcctttccgtg	13	14	1	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:74161872T>C	uc003pgx.1	-	1	172	c.33A>G	c.(31-33)AGA>AGG	p.R11R		NM_138441	NP_612450	Q8N884	M21D1_HUMAN	hypothetical protein LOC115004	11											0						CCTCGGAAGCTCTCTGCATGG	0.657													C	74161872	T	C	74161872	2	2	68	1	0	0	0	0	0	0	0	1	2337	1548	54	3		3	C6orf150	6	74161872	Silent	SNP	T	TCGA-BR-8289-01A-11D-2340-08	27504008	74161872	96953195	78	48550											
COL12A1	1303	broad.mit.edu	37	chr6	75833720	75833720	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatttggtgtctgcacaaaaAcagtgacaccataatcagtg	9	8	2	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:75833720A>C	uc003phs.2	-	42	6981	c.6815T>G	c.(6814-6816)GTT>GGT	p.V2272G	COL12A1_uc003pht.2_Missense_Mutation_p.V1108G	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2272	Fibronectin type-III 18.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CTGCACAAAAACAGTGACACC	0.428													C	75833720	A	C	75833720	3	2	68	1	0	0	0	0	1	0	0	0	3669	43	2	5	2476	5	COL12A1	6	75833720	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	1671848	75833720	95281347	79	48551											
KIAA1009	22832	broad.mit.edu	37	chr6	84894937	84894937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttgattggaggtagaaatcGatctcaagtttttgcttttt	10	4	1	2	rs150209774		TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:84894937G>A	uc010kbp.2	-	13	1728	c.1631C>T	c.(1630-1632)TCG>TTG	p.S544L	KIAA1009_uc003pkj.3_Missense_Mutation_p.S468L|KIAA1009_uc003pkk.2_Missense_Mutation_p.S544L|KIAA1009_uc003pki.3_5'UTR	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	544					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GGTAGAAATCGATCTCAAGTT	0.343													A	84894937	G	A	84894937	3	1	68	1	0	0	0	0	1	0	0	0	8203	1059	37	1	2640	1	KIAA1009	6	84894937	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	9061217	84894937	86220130	80	48552											
C6orf167	253714	broad.mit.edu	37	chr6	97599657	97599657	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccagttacctaaacacagAagtcagctgggaggaaggtt	11	8	1	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:97599657A>G	uc003ppb.2	-	23	3738	c.3472T>C	c.(3472-3474)TCT>CCT	p.S1158P	C6orf167_uc011eaf.1_Missense_Mutation_p.S1118P	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	1158					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		CTAAACACAGAAGTCAGCTGG	0.413													G	97599657	A	G	97599657	3	3	68	1	0	0	0	0	1	0	0	0	2342	246	9	3	271	3	C6orf167	6	97599657	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	12704720	97599657	73515410	81	48553											
CCNC	892	broad.mit.edu	37	chr6	100010763	100010763	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccaatattcttcctctgagaGaaactttaaatccttttggc	5	10	2	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:100010763G>C	uc003pqe.2	-	2	381	c.94C>G	c.(94-96)CTC>GTC	p.L32V	uc003pqc.2_Intron|CCNC_uc003pqd.2_5'UTR|CCNC_uc010kcr.2_RNA|CCNC_uc010kcs.2_Missense_Mutation_p.L32V|CCNC_uc011eah.1_Intron|CCNC_uc003pqf.2_Missense_Mutation_p.L32V	NM_005190	NP_005181	P24863	CCNC_HUMAN	cyclin C isoform a	32					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding				0		all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		TCCTCTGAGAGAAACTTTAAA	0.303													C	100010763	G	C	100010763	3	2	68	1	0	0	0	0	1	0	0	0	2915	942	33	5	801	5	CCNC	6	100010763	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	2411106	100010763	71104304	82	48554											
MCHR2	84539	broad.mit.edu	37	chr6	100390875	100390875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcacaactctcaacaccGtctttaaatttgatgacctt	4	11	2	2	rs139619654	byFrequency	TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:100390875G>A	uc003pqh.1	-	4	852	c.537C>T	c.(535-537)GAC>GAT	p.D179D	MCHR2_uc003pqi.1_Silent_p.D179D	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	179	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TCTCAACACCGTCTTTAAATT	0.428													A	100390875	G	A	100390875	2	1	68	1	0	0	0	0	0	0	0	1	9383	1136	40	1		1	MCHR2	6	100390875	Silent	SNP	G	TCGA-BR-8289-01A-11D-2340-08	380112	100390875	70724192	83	48555											
RFPL4B	442247	broad.mit.edu	37	chr6	112671505	112671505	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acacccacctggagagaattCctgcaagccctcgccttcgc	8	17	0	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:112671505C>A	uc003pvx.1	+	3	907	c.595C>A	c.(595-597)CCT>ACT	p.P199T		NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	199	B30.2/SPRY.						zinc ion binding				0		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		GGAGAGAATTCCTGCAAGCCC	0.473													A	112671505	C	A	112671505	3	1	68	1	0	0	0	0	1	0	0	0	13256	855	30	5	597	5	RFPL4B	6	112671505	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	12280630	112671505	58443562	84	48556											
TSPYL1	7259	broad.mit.edu	37	chr6	116600397	116600397	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgccacttctatttcttcAccttctggcggctgctcctc	6	17	4	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:116600397A>G	uc003pwp.3	-	1	884	c.597T>C	c.(595-597)GGT>GGC	p.G199G	DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'UTR|DSE_uc003pwr.2_5'Flank|DSE_uc003pws.2_5'Flank	NM_003309	NP_003300	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	199					nucleosome assembly	nucleolus					0		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		ctatttcttcaccttctggcg	0.209													G	116600397	A	G	116600397	2	3	68	1	0	0	0	0	0	0	0	1	16656	146	6	3		3	TSPYL1	6	116600397	Silent	SNP	A	TCGA-BR-8289-01A-11D-2340-08	3928892	116600397	54514670	85	48557											
FTSJ2	29960	broad.mit.edu	37	chr7	2274902	2274902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtaaccgacggctttgaCttccagcccaggttttacaa	8	12	1	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr7:2274902C>T	uc003slm.2	-	3	625	c.596G>A	c.(595-597)AGT>AAT	p.S199N	MAD1L1_uc003slh.1_5'Flank|MAD1L1_uc003slf.1_5'Flank|MAD1L1_uc003slg.1_5'Flank|MAD1L1_uc010ksh.1_5'Flank|MAD1L1_uc003sli.1_5'Flank|MAD1L1_uc010ksi.1_5'Flank|MAD1L1_uc010ksj.2_5'Flank|FTSJ2_uc003slk.2_Missense_Mutation_p.S45N|FTSJ2_uc003sll.2_Missense_Mutation_p.S45N|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_Missense_Mutation_p.S45N	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	FtsJ homolog 2	199					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		ACGGCTTTGACTTCCAGCCCA	0.512													T	2274902	C	T	2274902	3	4	68	1	0	0	0	0	1	0	0	0	6088	565	20	4	148	4	FTSJ2	7	2274902	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08		2274902	156863761	86	48558											
PDE1C	5137	broad.mit.edu	37	chr7	32109917	32109917	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atacttacagcccgcggagcCgaagccagattttctcgatc	9	13	1	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr7:32109917C>G	uc003tcm.1	-	1	558	c.89G>C	c.(88-90)CGG>CCG	p.R30P	PDE1C_uc003tcn.1_Missense_Mutation_p.R30P|PDE1C_uc003tco.1_Intron|PDE1C_uc003tcr.2_Missense_Mutation_p.R30P|PDE1C_uc003tcs.2_Missense_Mutation_p.R30P	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	30					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			CCCGCGGAGCCGAAGCCAGAT	0.507													G	32109917	C	G	32109917	3	3	68	1	0	0	0	0	1	0	0	0	11635	652	23	5	1883	5	PDE1C	7	32109917	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	29835015	32109917	127028746	87	48559											
ABCA13	154664	broad.mit.edu	37	chr7	48431709	48431709	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcgcctcagtggaccaAgaaggagctgcatcagcaag	13	10	2	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr7:48431709A>C	uc003toq.2	+	38	11871	c.11846A>C	c.(11845-11847)AAG>ACG	p.K3949T	ABCA13_uc010kys.1_Missense_Mutation_p.K1023T|ABCA13_uc003tos.1_Missense_Mutation_p.K775T|ABCA13_uc010kyt.1_RNA	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3949	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CAGTGGACCAAGAAGGAGCTG	0.507													C	48431709	A	C	48431709	3	2	68	1	0	0	0	0	1	0	0	0	31	72	3	5	11825	5	ABCA13	7	48431709	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	16321792	48431709	110706954	88	48560											
ZKSCAN1	7586	broad.mit.edu	37	chr7	99621500	99621500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaataccgccccgatagtgGagaggaggccgtgacccttc	14	12	0	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr7:99621500G>A	uc003usk.1	+	2	590	c.371G>A	c.(370-372)GGA>GAA	p.G124E	ZKSCAN1_uc003usj.2_Missense_Mutation_p.G123E|ZKSCAN1_uc003usl.1_Missense_Mutation_p.G88E|ZKSCAN1_uc003usm.1_Intron	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	zinc finger protein 36	124	SCAN box.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CCCGATAGTGGAGAGGAGGCC	0.517													A	99621500	G	A	99621500	3	1	68	1	0	0	0	0	1	0	0	0	17683	1174	41	4	373	4	ZKSCAN1	7	99621500	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	51189791	99621500	59517163	89	48561											
SLC12A9	56996	broad.mit.edu	37	chr7	100457773	100457773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggattctgtttttctaggCgtgatcttggcaccggccaa	12	9	3	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr7:100457773C>T	uc003uwp.2	+	9	1279	c.1137C>T	c.(1135-1137)GGC>GGT	p.G379G	SLC12A9_uc003uwq.2_Silent_p.G290G|SLC12A9_uc011kki.1_5'UTR|SLC12A9_uc003uwr.2_Silent_p.G115G|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_Silent_p.G115G|SLC12A9_uc003uwv.2_5'UTR	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	379	Cytoplasmic (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					TTTTTCTAGGCGTGATCTTGG	0.587													T	100457773	C	T	100457773	2	4	68	1	0	0	0	0	0	0	0	1	14390	782	27	1		1	SLC12A9	7	100457773	Silent	SNP	C	TCGA-BR-8289-01A-11D-2340-08	836273	100457773	58680890	90	48562											
RELN	5649	broad.mit.edu	37	chr7	103338449	103338449	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacttcacctacacgaagatTttcctgcttccactgaaatt	4	13	1	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr7:103338449T>A	uc003vca.2	-	10	1154	c.994A>T	c.(994-996)AAT>TAT	p.N332Y	RELN_uc010liz.2_Missense_Mutation_p.N332Y	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	332					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACACGAAGATTTTCCTGCTTC	0.453													A	103338449	T	A	103338449	3	1	68	1	0	0	0	0	1	0	0	0	13220	1841	64	5	9612	5	RELN	7	103338449	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	2880676	103338449	55800214	91	48563											
CBLL1	79872	broad.mit.edu	37	chr7	107399250	107399250	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggtactcctcacttggTatatagccaagctccacctc	7	14	1	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr7:107399250T>C	uc003veq.2	+	6	1433	c.1103T>C	c.(1102-1104)GTA>GCA	p.V368A	CBLL1_uc011kme.1_Missense_Mutation_p.V247A|CBLL1_uc011kmf.1_Missense_Mutation_p.V367A	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Cas-Br-M (murine) ecotropic retroviral	368	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|skin(2)|lung(1)	5						CCTCACTTGGTATATAGCCAA	0.527													C	107399250	T	C	107399250	3	2	68	1	0	0	0	0	1	0	0	0	2703	1638	57	3	1125	3	CBLL1	7	107399250	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	4060801	107399250	51739413	92	48564											
CFTR	1080	broad.mit.edu	37	chr7	117292912	117292912	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atagaaagtatttattttttCtggaacatttagaaaaaact	5	3	1	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr7:117292912C>G	uc003vjd.2	+	24	4022	c.3890C>G	c.(3889-3891)TCT>TGT	p.S1297C	CFTR_uc011knq.1_Missense_Mutation_p.S703C	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	1297	Cytoplasmic (Potential).|ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTTATTTTTTCTGGAACATTT	0.279									Cystic_Fibrosis				G	117292912	C	G	117292912	3	3	68	1	0	0	0	0	1	0	0	0	3294	913	32	5	3984	5	CFTR	7	117292912	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	9893662	117292912	41845751	93	48565											
SLC13A1	6561	broad.mit.edu	37	chr7	122811949	122811949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaaatccttgaaataagCagatgccacctgaaataaca	7	8	0	4			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr7:122811949C>T	uc003vkm.2	-	3	263	c.238G>A	c.(238-240)GCT>ACT	p.A80T	SLC13A1_uc010lks.2_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	80	Helical; (Potential).					integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)	TTGAAATAAGCAGATGCCACC	0.333													T	122811949	C	T	122811949	3	4	68	1	0	0	0	0	1	0	0	0	14391	710	25	2	1601	2	SLC13A1	7	122811949	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	5519037	122811949	36326714	94	48566											
LUC7L2	51631	broad.mit.edu	37	chr7	139090517	139090517	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtagagaaagcacgggcaaAgaaaagagaagcagaggtaa	14	4	0	4			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr7:139090517A>C	uc003vux.2	+	5	868	c.494A>C	c.(493-495)AAG>ACG	p.K165T	LUC7L2_uc011kqs.1_Missense_Mutation_p.K162T|LUC7L2_uc011kqt.1_Missense_Mutation_p.K231T|LUC7L2_uc003vuy.2_Missense_Mutation_p.K164T|LUC7L2_uc003vuz.1_Missense_Mutation_p.K112T|LUC7L2_uc003vva.2_Missense_Mutation_p.K112T	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN	LUC7-like 2	165	Potential.						enzyme binding|metal ion binding				0	Melanoma(164;0.242)					GCACGGGCAAAGAAAAGAGAA	0.368													C	139090517	A	C	139090517	3	2	68	1	0	0	0	0	1	0	0	0	9083	72	3	5	512	5	LUC7L2	7	139090517	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	16278568	139090517	20048146	95	48567											
TBXAS1	6916	broad.mit.edu	37	chr7	139706972	139706972	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacgctgaggatgtacccgCcagctttcaggtgtgtggta	14	9	1	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr7:139706972C>A	uc011kqv.1	+	11	1521	c.1357C>A	c.(1357-1359)CCA>ACA	p.P453T	TBXAS1_uc003vvh.2_Missense_Mutation_p.P407T|TBXAS1_uc010lne.2_Missense_Mutation_p.P339T|TBXAS1_uc011kqu.1_Missense_Mutation_p.P358T|TBXAS1_uc003vvi.2_Missense_Mutation_p.P407T|TBXAS1_uc003vvj.2_Missense_Mutation_p.P407T|TBXAS1_uc011kqw.1_Missense_Mutation_p.P387T	NM_001130966	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1, platelet isoform	406	Cytoplasmic (Potential).				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			ovary(2)|breast(1)	3	Melanoma(164;0.0142)					GATGTACCCGCCAGCTTTCAG	0.642													A	139706972	C	A	139706972	3	1	68	1	0	0	0	0	1	0	0	0	15661	739	26	5	1399	5	TBXAS1	7	139706972	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	616455	139706972	19431691	96	48568											
HTR5A	3361	broad.mit.edu	37	chr7	154863136	154863136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgtcatctctctggcccCgctgctttttggctggggag	13	13	3	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr7:154863136C>T	uc003wlu.1	+	1	591	c.527C>T	c.(526-528)CCG>CTG	p.P176L	uc011kvt.1_5'UTR|uc003wlt.2_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	176	Helical; Name=4; (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TCTCTGGCCCCGCTGCTTTTT	0.627													T	154863136	C	T	154863136	3	4	68	1	0	0	0	0	1	0	0	0	7450	652	23	1	529	1	HTR5A	7	154863136	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	15156164	154863136	4275527	97	48569											
CSMD1	64478	broad.mit.edu	37	chr8	2966175	2966175	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaagtcgctgtggaacTtgagcaggacttggttggtg	15	5	0	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr8:2966175T>G	uc011kwk.1	-	44	7097	c.6707A>C	c.(6706-6708)AAG>ACG	p.K2236T	CSMD1_uc011kwj.1_Missense_Mutation_p.K1628T|CSMD1_uc010lrg.2_Missense_Mutation_p.K304T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2236	Extracellular (Potential).|CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTGTGGAACTTGAGCAGGAC	0.502													G	2966175	T	G	2966175	3	3	68	1	0	0	0	0	1	0	0	0	3944	1609	56	5	4098	5	CSMD1	8	2966175	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08		2966175	143397847	98	48570											
DLC1	10395	broad.mit.edu	37	chr8	13356730	13356730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgacattccattggggCaggaaggaggctgcagaagg	16	8	0	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr8:13356730C>T	uc003wwm.2	-	2	1295	c.851G>A	c.(850-852)TGC>TAC	p.C284Y	DLC1_uc003wwn.2_Missense_Mutation_p.C284Y|DLC1_uc011kxy.1_Missense_Mutation_p.C284Y	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	284					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TCCATTGGGGCAGGAAGGAGG	0.438													T	13356730	C	T	13356730	3	4	68	1	0	0	0	0	1	0	0	0	4550	710	25	2	3888	2	DLC1	8	13356730	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	10390555	13356730	133007292	99	48571											
MTUS1	57509	broad.mit.edu	37	chr8	17570732	17570732	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggtcactcacctgcattaaGagctgtaaataaattttttc	6	8	2	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr8:17570732G>C	uc003wxv.2	-	6	3088	c.2614C>G	c.(2614-2616)CTT>GTT	p.L872V	MTUS1_uc003wxt.2_Missense_Mutation_p.L119V|MTUS1_uc011kyg.1_Missense_Mutation_p.L17V|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.L818V	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	872						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		CCTGCATTAAGAGCTGTAAAT	0.294													C	17570732	G	C	17570732	3	2	68	1	0	0	0	0	1	0	0	0	9965	942	33	5	1363	5	MTUS1	8	17570732	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	4214002	17570732	128793290	100	48572											
ATP6V1B2	526	broad.mit.edu	37	chr8	20055041	20055041	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcagtcggaactacctctccCagcctcgcctcagtgagtat	8	15	3	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr8:20055041C>G	uc003wzp.2	+	1	338	c.124C>G	c.(124-126)CAG>GAG	p.Q42E		NM_001693	NP_001684	P21281	VATB2_HUMAN	vacuolar H+ATPase B2	42					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		CTACCTCTCCCAGCCTCGCCT	0.647													G	20055041	C	G	20055041	3	3	68	1	0	0	0	0	1	0	0	0	1179	595	21	5	126	5	ATP6V1B2	8	20055041	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	2484309	20055041	126308981	101	48573											
KCNU1	157855	broad.mit.edu	37	chr8	36766874	36766874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttcggaaccatattgtaGcatgtgtatttggagatgcc	11	6	0	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr8:36766874G>A	uc010lvw.2	+	21	2239	c.2152G>A	c.(2152-2154)GCA>ACA	p.A718T	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	718	Segment S9.|Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCATATTGTAGCATGTGTATT	0.458													A	36766874	G	A	36766874	3	1	68	1	0	0	0	0	1	0	0	0	8093	971	34	2	2234	2	KCNU1	8	36766874	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	16711833	36766874	109597148	102	48574											
ASH2L	9070	broad.mit.edu	37	chr8	37972519	37972519	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aatttggacttttggatcagGtacattaatatgttttacat	7	4	1	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr8:37972519G>C	uc003xkt.3	+	7	835	c.777_splice	c.e7+1	p.Q259_splice	ASH2L_uc011lbk.1_Splice_Site_p.Q120_splice|ASH2L_uc003xku.3_Splice_Site_p.Q165_splice|ASH2L_uc010lwa.2_Splice_Site_p.Q165_splice	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	ash2-like isoform a						hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				TTTGGATCAGGTACATTAATA	0.358													C	37972519	G	C	37972519	5	2	68	1	0	0	0	0	0	0	1	0	1042	1275	44	5	804	5	ASH2L	8	37972519	Splice_Site	SNP	G	TCGA-BR-8289-01A-11D-2340-08	1205645	37972519	108391503	103	48575											
SNTG1	54212	broad.mit.edu	37	chr8	51314780	51314780	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	taatctgaagacaaagacagGaatttgtttgctgcaggatg	11	5	1	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr8:51314780G>T	uc010lxy.1	+	5	409	c.38G>T	c.(37-39)GGA>GTA	p.G13V	SNTG1_uc003xqs.1_Missense_Mutation_p.G13V|SNTG1_uc010lxz.1_Missense_Mutation_p.G13V|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	13					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ACAAAGACAGGAATTTGTTTG	0.383													T	51314780	G	T	51314780	3	4	68	1	0	0	0	0	1	0	0	0	14874	1174	41	5	44	5	SNTG1	8	51314780	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	13342261	51314780	95049242	104	48576											
PREX2	80243	broad.mit.edu	37	chr8	69002838	69002838	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggctgcagcagctggtcTtcaccctggacagtgcatta	12	11	2	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr8:69002838T>G	uc003xxv.1	+	20	2165	c.2138T>G	c.(2137-2139)CTT>CGT	p.L713R	PREX2_uc003xxu.1_Missense_Mutation_p.L713R|PREX2_uc011lez.1_Missense_Mutation_p.L648R	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	713	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GCAGCTGGTCTTCACCCTGGA	0.393													G	69002838	T	G	69002838	3	3	68	1	0	0	0	0	1	0	0	0	12477	1609	56	5	2216	5	PREX2	8	69002838	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	17688058	69002838	77361184	105	48577											
TMEM70	54968	broad.mit.edu	37	chr8	74893615	74893615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaacagacacttataaagCcattacctacaatgctatgc	4	12	0	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr8:74893615C>T	uc003yab.2	+	3	629	c.542C>T	c.(541-543)GCC>GTC	p.A181V	TMEM70_uc003yac.2_3'UTR	NM_017866	NP_060336	Q9BUB7	TMM70_HUMAN	transmembrane protein 70 isoform a	181					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane				ovary(1)	1	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			ACTTATAAAGCCATTACCTAC	0.403													T	74893615	C	T	74893615	3	4	68	1	0	0	0	0	1	0	0	0	16196	739	26	2	560	2	TMEM70	8	74893615	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	5890777	74893615	71470407	106	48578											
VPS13B	157680	broad.mit.edu	37	chr8	100108564	100108564	+	Frame_Shift_Del	DEL	A	A	-													accatgaaagctgtggttctAattctaccaaccgtagtact							TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr8:100108563_100108563TA>T	uc003yiv.3	+	3	426	c.315_315TA>T	c.(313-315)tctfs	p.S105fs	VPS13B_uc003yiw.3_Frame_Shift_Del_p.S105fs|VPS13B_uc003yit.3_Frame_Shift_Del_p.S105fs|VPS13B_uc003yiu.1_Frame_Shift_Del_p.S105fs|VPS13B_uc003yis.3_Frame_Shift_Del_p.S105fs|VPS13B_uc011lgy.2_5'UTR	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	105					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCTGTGGTTCTAATTCTACCA	0.358													-	100108564	A	-	100108564	7	5	68	1	0	1	0	1	0	0	0	0	17187	362	13	0	326	0	VPS13B	8	100108564	Frame_Shift_Del	DEL	A	TCGA-BR-8289-01A-11D-2340-08	25214949	100108564	46255458	107	48579											
LRRC24	441381	broad.mit.edu	37	chr8	145749546	145749546	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggctgcagggcctctcggctGatggtgcccagctggttcct	15	13	1	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr8:145749546G>A	uc003zdm.2	-	4	687	c.555C>T	c.(553-555)ATC>ATT	p.I185I	LRRC24_uc003zdn.2_Silent_p.I182I|LRRC14_uc003zdk.1_3'UTR|LRRC14_uc003zdl.1_3'UTR|LRRC14_uc003zdo.2_Intron	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24 precursor	185	LRR 6.					integral to membrane					0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCTCTCGGCTGATGGTGCCCA	0.627													A	145749546	G	A	145749546	2	1	68	1	0	0	0	0	0	0	0	1	8979	1280	45	4		4	LRRC24	8	145749546	Silent	SNP	G	TCGA-BR-8289-01A-11D-2340-08	45640982	145749546	614476	108	48580											
LINGO2	158038	broad.mit.edu	37	chr9	27950090	27950090	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgggagagggcttctgTtggtactgctgttaagttgc	17	5	1	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:27950090T>C	uc003zqu.1	-	2	774	c.580A>G	c.(580-582)ACA>GCA	p.T194A	LINGO2_uc010mjf.1_Missense_Mutation_p.T194A|LINGO2_uc003zqv.1_Missense_Mutation_p.T194A	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	194	Extracellular (Potential).|LRR 6.					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AGGGCTTCTGTTGGTACTGCT	0.473													C	27950090	T	C	27950090	3	2	68	1	0	0	0	0	1	0	0	0	8815	1725	60	3	1244	3	LINGO2	9	27950090	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08		27950090	113263341	109	48581											
ANKRD20A4	728747	broad.mit.edu	37	chr9	69423643	69423643	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctgtacaagtagaaatgAgttctgctatttccaaagta	7	6	2	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:69423643A>G	uc004afn.2	+	15	2051	c.1939A>G	c.(1939-1941)AGT>GGT	p.S647G	uc010mnx.1_5'Flank	NM_001098805	NP_001092275	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	647	Potential.										0						AGTAGAAATGAGTTCTGCTAT	0.333													G	69423643	A	G	69423643	3	3	68	1	0	0	0	0	1	0	0	0	650	304	11	3	1997	3	ANKRD20A4	9	69423643	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	41473553	69423643	71789788	110	48582											
PIP5K1B	8395	broad.mit.edu	37	chr9	71532553	71532553	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagagaaagaggaggagacCccacaaaatgtgcctgatgc	12	8	0	4			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:71532553C>A	uc004agu.2	+	9	1166	c.861C>A	c.(859-861)ACC>ACA	p.T287T	PIP5K1B_uc011lrq.1_Silent_p.T287T|PIP5K1B_uc004agv.2_RNA	NM_003558	NP_003549	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	287	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			stomach(1)	1				Lung(182;0.133)		AGGAGGAGACCCCACAAAATG	0.473													A	71532553	C	A	71532553	2	1	68	1	0	0	0	0	0	0	0	1	11940	610	22	5		5	PIP5K1B	9	71532553	Silent	SNP	C	TCGA-BR-8289-01A-11D-2340-08	2108910	71532553	69680878	111	48583											
VPS13A	23230	broad.mit.edu	37	chr9	79836216	79836216	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcaatataaagaactgTataaaaaaaagttaacaagt	6	3	0	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:79836216T>C	uc004akr.2	+	13	1365	c.1105T>C	c.(1105-1107)TAT>CAT	p.Y369H	VPS13A_uc004akp.3_Missense_Mutation_p.Y369H|VPS13A_uc004akq.3_Missense_Mutation_p.Y369H|VPS13A_uc004aks.2_Missense_Mutation_p.Y369H	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	369					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						TAAAGAACTGTATAAAAAAAA	0.348													C	79836216	T	C	79836216	3	2	68	1	0	0	0	0	1	0	0	0	17186	1638	57	3	1155	3	VPS13A	9	79836216	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	8303663	79836216	61377215	112	48584											
ZNF169	169841	broad.mit.edu	37	chr9	97062730	97062730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgtgcagggaatgtgggcGacacttcaggtatacatcct	13	8	1	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:97062730G>A	uc004aum.1	+	5	995	c.890G>A	c.(889-891)CGA>CAA	p.R297Q		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	297	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				GAATGTGGGCGACACTTCAGG	0.562													A	97062730	G	A	97062730	3	1	68	1	0	0	0	0	1	0	0	0	17739	1058	37	1	904	1	ZNF169	9	97062730	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	17226514	97062730	44150701	113	48585											
SVEP1	79987	broad.mit.edu	37	chr9	113170371	113170371	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gagaatttgccattcaaaatCtccttgggtttcaggcactc	8	10	3	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:113170371C>G	uc010mtz.2	-	38	7846	c.7509G>C	c.(7507-7509)GAG>GAC	p.E2503D	SVEP1_uc010mty.2_Missense_Mutation_p.E429D	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2503	Sushi 19.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CATTCAAAATCTCCTTGGGTT	0.473													G	113170371	C	G	113170371	3	3	68	1	0	0	0	0	1	0	0	0	15417	912	32	5	3250	5	SVEP1	9	113170371	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	16107641	113170371	28043060	114	48586											
COL27A1	85301	broad.mit.edu	37	chr9	116931258	116931258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtaagccggcctctgccCgcaccagcacccacaaacct	7	20	1	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:116931258C>T	uc011lxl.1	+	3	1423	c.1423C>T	c.(1423-1425)CGC>TGC	p.R475C	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.R325C	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	475	Pro-rich.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						GGCCTCTGCCCGCACCAGCAC	0.577													T	116931258	C	T	116931258	3	4	68	1	0	0	0	0	1	0	0	0	3685	652	23	1	1433	1	COL27A1	9	116931258	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	3760887	116931258	24282173	115	48587											
ASTN2	23245	broad.mit.edu	37	chr9	119976963	119976963	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgcttctgccaacgtcgcTgggcgtacagcgccacggtg	14	14	1	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:119976963T>C	uc004bjs.1	-	3	790	c.689A>G	c.(688-690)CAG>CGG	p.Q230R	ASTN2_uc004bjr.1_Missense_Mutation_p.Q230R|ASTN2_uc004bjt.1_Missense_Mutation_p.Q230R	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	230	Cytoplasmic (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						CCAACGTCGCTGGGCGTACAG	0.612													C	119976963	T	C	119976963	3	2	68	1	0	0	0	0	1	0	0	0	1065	1580	55	3	3489	3	ASTN2	9	119976963	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	3045705	119976963	21236468	116	48588											
PTGS1	5742	broad.mit.edu	37	chr9	125140225	125140225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaccagggcatctgtgtcCgcttcggccttgaccgctac	11	15	1	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:125140225C>T	uc004bmg.1	+	3	277	c.142C>T	c.(142-144)CGC>TGC	p.R48C	PTGS1_uc011lys.1_Missense_Mutation_p.R23C|PTGS1_uc010mwb.1_5'UTR|PTGS1_uc004bmf.1_Missense_Mutation_p.R48C|PTGS1_uc004bmh.1_5'UTR|PTGS1_uc011lyt.1_5'UTR	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	48	EGF-like.				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|skin(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CATCTGTGTCCGCTTCGGCCT	0.607													T	125140225	C	T	125140225	3	4	68	1	0	0	0	0	1	0	0	0	12755	652	23	1	152	1	PTGS1	9	125140225	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	5163262	125140225	16073206	117	48589											
ZNF79	7633	broad.mit.edu	37	chr9	130206601	130206601	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccttcagttactgttcttccCtttctcagcatcagaagagc	6	13	4	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:130206601C>G	uc004bqw.3	+	5	1036	c.622C>G	c.(622-624)CTT>GTT	p.L208V	ZNF79_uc011maf.1_Missense_Mutation_p.L184V|ZNF79_uc011mag.1_Missense_Mutation_p.L184V	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	zinc finger protein 79	208	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						CTGTTCTTCCCTTTCTCAGCA	0.483													G	130206601	C	G	130206601	3	3	68	1	0	0	0	0	1	0	0	0	18158	681	24	5	640	5	ZNF79	9	130206601	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	5066376	130206601	11006830	118	48590											
NUP188	23511	broad.mit.edu	37	chr9	131757647	131757647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactgaagaaattttccatcGagaaacgctttgcctactgg	8	10	0	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:131757647G>A	uc004bws.1	+	30	3227	c.3205G>A	c.(3205-3207)GAG>AAG	p.E1069K	NUP188_uc004bwu.2_Missense_Mutation_p.E412K	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1069					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						ATTTTCCATCGAGAAACGCTT	0.443													A	131757647	G	A	131757647	3	1	68	1	0	0	0	0	1	0	0	0	10758	1059	37	1	3323	1	NUP188	9	131757647	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	1551046	131757647	9455784	119	48591											
TOR1B	27348	broad.mit.edu	37	chr9	132571733	132571733	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgagggccgagatgagggcCcgtggttctgccatagatga	17	8	1	5			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:132571733C>A	uc004byk.1	+	5	942	c.882C>A	c.(880-882)GCC>GCA	p.A294A		NM_014506	NP_055321	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B) precursor	294					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding				0		Ovarian(14;0.0586)				AGATGAGGGCCCGTGGTTCTG	0.473													A	132571733	C	A	132571733	2	1	68	1	0	0	0	0	0	0	0	1	16371	610	22	5		5	TOR1B	9	132571733	Silent	SNP	C	TCGA-BR-8289-01A-11D-2340-08	814086	132571733	8641698	120	48592											
MRPS2	51116	broad.mit.edu	37	chr9	138395577	138395577	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatggcccgtgactgtggCgagtacgcccacactcgcta	11	14	0	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:138395577C>T	uc004cfv.3	+	4	563	c.489C>T	c.(487-489)GGC>GGT	p.G163G	MRPS2_uc004cfw.3_Silent_p.G73G|MRPS2_uc004cfx.3_Silent_p.G78G|MRPS2_uc010nat.2_Silent_p.G144G|uc004cfy.2_Intron	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	163					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome				0				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		GTGACTGTGGCGAGTACGCCC	0.607													T	138395577	C	T	138395577	2	4	68	1	0	0	0	0	0	0	0	1	9831	755	27	1		1	MRPS2	9	138395577	Silent	SNP	C	TCGA-BR-8289-01A-11D-2340-08	5823844	138395577	2817854	121	48593											
USP6NL	9712	broad.mit.edu	37	chr10	11505655	11505655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggctgtgctctctcgggCgtcccggtcctgctctgggg	17	14	2	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:11505655C>T	uc001ikt.3	-	15	1593	c.1272G>A	c.(1270-1272)ACG>ACA	p.T424T	USP6NL_uc001iks.1_Silent_p.T441T	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	424						intracellular	Rab GTPase activator activity				0						CTCTCTCGGGCGTCCCGGTCC	0.657													T	11505655	C	T	11505655	2	4	68	1	0	0	0	0	0	0	0	1	17084	755	27	1		1	USP6NL	10	11505655	Silent	SNP	C	TCGA-BR-8289-01A-11D-2340-08		11505655	124029092	122	48594											
CUBN	8029	broad.mit.edu	37	chr10	16970303	16970303	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccaagttattatctcCtacgttgaaagaaagggaac	10	8	1	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:16970303C>A	uc001ioo.2	-	41	6177	c.6125_splice	c.e41-1	p.G2042_splice		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor						cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTATTATCTCCTACGTTGAAA	0.458													A	16970303	C	A	16970303	5	1	68	1	0	0	0	0	0	0	1	0	4051	695	24	5	4855	5	CUBN	10	16970303	Splice_Site	SNP	C	TCGA-BR-8289-01A-11D-2340-08	5464648	16970303	118564444	123	48595											
ARMC4	55130	broad.mit.edu	37	chr10	28233225	28233225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcaacattcgcgatagtctCggctgccaaacattttagac	9	11	1	1	rs145742175		TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:28233225C>T	uc009xky.2	-	12	1767	c.1669G>A	c.(1669-1671)GAG>AAG	p.E557K	ARMC4_uc010qds.1_Missense_Mutation_p.E82K|ARMC4_uc010qdt.1_Missense_Mutation_p.E249K|ARMC4_uc001itz.2_Missense_Mutation_p.E557K|ARMC4_uc010qdu.1_Missense_Mutation_p.E249K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	557	ARM 2.						binding			ovary(4)|skin(2)	6						GCGATAGTCTCGGCTGCCAAA	0.463													T	28233225	C	T	28233225	3	4	68	1	0	0	0	0	1	0	0	0	953	893	31	1	1501	1	ARMC4	10	28233225	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	11262922	28233225	107301522	124	48596											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508309	37508309	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaagtcaagaacctgctttCcacattgcaggagatgcttg	9	9	1	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:37508309C>T	uc001iza.1	+	34	3600	c.3501C>T	c.(3499-3501)TTC>TTT	p.F1167F		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1223						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						AACCTGCTTTCCACATTGCAG	0.398													T	37508309	C	T	37508309	2	4	68	1	0	0	0	0	0	0	0	1	658	854	30	4		4	ANKRD30A	10	37508309	Silent	SNP	C	TCGA-BR-8289-01A-11D-2340-08	9275084	37508309	98026438	125	48597											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508493	37508493	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattggtttcagaacatgcaCaaagagaccaacgtgaaaca	8	9	1	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:37508493C>A	uc001iza.1	+	34	3784	c.3685C>A	c.(3685-3687)CAA>AAA	p.Q1229K		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1285	Potential.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						AGAACATGCACAAAGAGACCA	0.378													A	37508493	C	A	37508493	3	1	68	1	0	0	0	0	1	0	0	0	658	479	17	5	3819	5	ANKRD30A	10	37508493	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	184	37508493	98026254	126	48598											
A1CF	29974	broad.mit.edu	37	chr10	52588038	52588038	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctactgcaataccatgtcCccataactgaattcttcctg	5	13	2	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:52588038C>A	uc001jjj.2	-	7	810	c.622G>T	c.(622-624)GGA>TGA	p.G208*	A1CF_uc010qhn.1_Nonsense_Mutation_p.G216*|A1CF_uc001jji.2_Nonsense_Mutation_p.G208*|A1CF_uc001jjh.2_Nonsense_Mutation_p.G216*|A1CF_uc010qho.1_Nonsense_Mutation_p.G216*|A1CF_uc009xov.2_Nonsense_Mutation_p.G208*	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	apobec-1 complementation factor isoform 2	208	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			central_nervous_system(1)	1						ATACCATGTCCCCATAACTGA	0.348													A	52588038	C	A	52588038	4	1	68	1	0	0	0	0	0	1	0	0	2	632	22	5	1190	5	A1CF	10	52588038	Nonsense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	15079545	52588038	82946709	127	48599											
CDH23	64072	broad.mit.edu	37	chr10	73461941	73461941	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccatgaggccgagctgatgCgcaaaatcgtcgtctctgtt	11	12	1	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:73461941C>A	uc001jrx.3	+	22	2937	c.2560C>A	c.(2560-2562)CGC>AGC	p.R854S	CDH23_uc001jry.2_Missense_Mutation_p.R470S|CDH23_uc001jrz.2_Missense_Mutation_p.R470S	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	854	Cadherin 8.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CGAGCTGATGCGCAAAATCGT	0.632													A	73461941	C	A	73461941	3	1	68	1	0	0	0	0	1	0	0	0	3108	768	27	5	2873	5	CDH23	10	73461941	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	20873903	73461941	62072806	128	48600											
P4HA1	5033	broad.mit.edu	37	chr10	74804758	74804758	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttttgctaattctgtaatGtaccgtctccaagtctcctg	6	12	3	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:74804758G>T	uc010qka.1	-	10	1463	c.1129C>A	c.(1129-1131)CAT>AAT	p.H377N	P4HA1_uc001jtg.2_Missense_Mutation_p.H377N|P4HA1_uc001jth.2_Intron|P4HA1_uc010qkb.1_Intron|P4HA1_uc001jti.2_Intron	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha I subunit isoform 2	377						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			ovary(1)	1	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATTCTGTAATGTACCGTCTCC	0.368													T	74804758	G	T	74804758	3	4	68	1	0	0	0	0	1	0	0	0	11356	1377	48	5	578	5	P4HA1	10	74804758	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	1342817	74804758	60729989	129	48601											
NRG3	10718	broad.mit.edu	37	chr10	83635467	83635467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagctctttccccaaggCcatggagaccaccaccacta	7	18	1	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:83635467C>T	uc001kco.2	+	1	398	c.371C>T	c.(370-372)GCC>GTC	p.A124V	NRG3_uc010qlz.1_Missense_Mutation_p.A124V|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	124	Ser/Thr-rich.|Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TTCCCCAAGGCCATGGAGacc	0.498													T	83635467	C	T	83635467	3	4	68	1	0	0	0	0	1	0	0	0	10649	739	26	2	373	2	NRG3	10	83635467	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	8830709	83635467	51899280	130	48602											
NRG3	10718	broad.mit.edu	37	chr10	84718767	84718767	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatggtaaaagctacagtcTcaaagcatccagcacaatgg	8	9	1	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:84718767T>C	uc001kco.2	+	6	1247	c.1220T>C	c.(1219-1221)CTC>CCC	p.L407P	NRG3_uc010qlz.1_Missense_Mutation_p.L406P|NRG3_uc001kcp.2_Missense_Mutation_p.L186P|NRG3_uc001kcq.2_Missense_Mutation_p.L57P|NRG3_uc001kcr.2_Missense_Mutation_p.L57P	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	407	Cytoplasmic (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGCTACAGTCTCAAAGCATCC	0.423													C	84718767	T	C	84718767	3	2	68	1	0	0	0	0	1	0	0	0	10649	1551	54	3	1410	3	NRG3	10	84718767	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	1083300	84718767	50815980	131	48603											
COX15	1355	broad.mit.edu	37	chr10	101476185	101476185	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattctccgagagaggaagtAgagcactgtaatggcagtga	13	6	1	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:101476185A>G	uc001kqb.3	-	8	1638	c.1021T>C	c.(1021-1023)TAC>CAC	p.Y341H	COX15_uc001kqc.3_Missense_Mutation_p.Y341H|COX15_uc010qpj.1_Missense_Mutation_p.Y162H	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	COX15 homolog isoform 1	341	Helical; (Potential).				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		GAGAGGAAGTAGAGCACTGTA	0.453													G	101476185	A	G	101476185	3	3	68	1	0	0	0	0	1	0	0	0	3764	420	15	3	289	3	COX15	10	101476185	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	16757418	101476185	34058562	132	48604											
SORCS1	114815	broad.mit.edu	37	chr10	108434807	108434807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatacttttcaacttacGtcatgatgagagtctcttct	5	10	5	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:108434807G>A	uc001kym.2	-	14	1948	c.1940C>T	c.(1939-1941)ACA>ATA	p.T647I	SORCS1_uc001kyl.2_Missense_Mutation_p.T647I|SORCS1_uc009xxs.2_Missense_Mutation_p.T647I|SORCS1_uc001kyn.1_Missense_Mutation_p.T647I|SORCS1_uc001kyo.2_Missense_Mutation_p.T647I	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	647	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTCAACTTACGTCATGATGAG	0.403													A	108434807	G	A	108434807	3	1	68	1	0	0	0	0	1	0	0	0	14930	1159	40	1	1852	1	SORCS1	10	108434807	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	6958622	108434807	27099940	133	48605											
SHOC2	8036	broad.mit.edu	37	chr10	112769019	112769019	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcattaggttcttatcttatCaaacaatcttctaaagaagc	4	8	6	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:112769019C>G	uc001kzl.3	+	7	1647	c.1298C>G	c.(1297-1299)TCA>TGA	p.S433*	SHOC2_uc009xxx.2_Nonsense_Mutation_p.S433*|SHOC2_uc010qrg.1_Nonsense_Mutation_p.S72*|SHOC2_uc001kzn.2_Nonsense_Mutation_p.S387*	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog	433	LRR 15.				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			ovary(1)|skin(1)	2				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CTTATCTTATCAAACAATCTT	0.318													G	112769019	C	G	112769019	4	3	68	1	0	0	0	0	0	1	0	0	14287	838	29	5	1320	5	SHOC2	10	112769019	Nonsense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	4334212	112769019	22765728	134	48606											
DOCK1	1793	broad.mit.edu	37	chr10	129202588	129202589	+	Splice_Site	INS	-	-	A													attttcttttttccttccagINSaaaaaacaggctcagtttta							TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:129202588_129202589insA	uc001ljt.2	+	40	4019	c.3955_splice	c.e40-1	p.K1319_splice	DOCK1_uc010qun.1_Splice_Site_p.K1340_splice|DOCK1_uc009yaq.2_Splice_Site_p.K314_splice	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1						apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTTCCTTCCAGAAAAAACAGGC	0.426													A	129202589	-	A	129202588	8	5	68	1	0	1	1	0	0	0	1	0	4684	956	33	0	4112	0	DOCK1	10	129202588	Splice_Site	INS	-	TCGA-BR-8289-01A-11D-2340-08	16433569	129202588	6332159	135	48607	185	2									
DOCK1	1793	broad.mit.edu	37	chr10	129202589	129202590	+	Splice_Site	INS	-	-	A													ttttcttttttccttccagaINSaaaaacaggctcagttttat							TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:129202588_129202589G>GA	uc010qun.2	+	40	4082	c.4018_splice	c.e40-1	p.K1340_splice	DOCK1_uc001ljt.3_Splice_Site_p.K1319_splice|DOCK1_uc009yaq.3_Splice_Site_p.K314_splice	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1319	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTTCCTTCCAGAAAAAACAGGC	0.426													A	129202590	-	A	129202589	8	5	68	1	0	1	1	0	0	0	1	0	4684	260	9	0	4113	0	DOCK1	10	129202589	Splice_Site	INS	-	TCGA-BR-8289-01A-11D-2340-08	1	129202589	6332158	136	48608	185	2									
UBQLNL	143630	broad.mit.edu	37	chr11	5536964	5536964	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttggatctgcattatctcTtggatcatagcaaggttcct	9	8	3	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr11:5536964T>G	uc001maz.3	-	1	993	c.708A>C	c.(706-708)CAA>CAC	p.Q236H	HBG2_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	236										large_intestine(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GCATTATCTCTTGGATCATAG	0.468													G	5536964	T	G	5536964	3	3	68	1	0	0	0	0	1	0	0	0	16897	1606	56	5	723	5	UBQLNL	11	5536964	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08		5536964	129469552	137	48609											
OR52L1	338751	broad.mit.edu	37	chr11	6008074	6008074	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaatccctaccaggagaaaAgaaggctgggatagcctcca	12	10	0	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr11:6008074A>G	uc001mcd.2	-	1	142	c.87T>C	c.(85-87)TCT>TCC	p.S29S		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	29	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGGAGAAAAGAAGGCTGGG	0.468													G	6008074	A	G	6008074	2	3	68	1	0	0	0	0	0	0	0	1	11125	59	3	3		3	OR52L1	11	6008074	Silent	SNP	A	TCGA-BR-8289-01A-11D-2340-08	471110	6008074	128998442	138	48610											
MICALCL	84953	broad.mit.edu	37	chr11	12316167	12316167	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaagaaaagaatctcacttTtttcctccctcagactcaaa	3	12	3	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr11:12316167T>A	uc001mkg.1	+	3	1480	c.1189T>A	c.(1189-1191)TTT>ATT	p.F397I		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	397					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)		AATCTCACTTTTTTCCTCCCT	0.453													A	12316167	T	A	12316167	3	1	68	1	0	0	0	0	1	0	0	0	9572	1841	64	5	1195	5	MICALCL	11	12316167	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	6308093	12316167	122690349	139	48611											
OR4C46	119749	broad.mit.edu	37	chr11	51515532	51515532	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taacctgatcacacattcacTctatggaaagaaggccatcc	6	12	3	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr11:51515532T>C	uc010ric.1	+	1	251	c.251T>C	c.(250-252)CTC>CCC	p.L84P		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	84	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ACACATTCACTCTATGGAAAG	0.483													C	51515532	T	C	51515532	3	2	68	1	0	0	0	0	1	0	0	0	11051	1551	54	3	253	3	OR4C46	11	51515532	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	39199365	51515532	83490984	140	48612											
OR4C15	81309	broad.mit.edu	37	chr11	55322128	55322128	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcctatgtacttcttcTtgggcttcctgtccttcctg	7	13	3	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr11:55322128T>C	uc010rig.1	+	1	346	c.346T>C	c.(346-348)TTG>CTG	p.L116L		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	62	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GTACTTCTTCTTGGGCTTCCT	0.448										HNSCC(20;0.049)			C	55322128	T	C	55322128	2	2	68	1	0	0	0	0	0	0	0	1	11048	1606	56	3		3	OR4C15	11	55322128	Silent	SNP	T	TCGA-BR-8289-01A-11D-2340-08	3806596	55322128	79684388	141	48613											
OR5D14	219436	broad.mit.edu	37	chr11	55563500	55563500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catatctctggggcatgtttGgccccttggtactcctttgt	10	11	1	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr11:55563500G>A	uc010rim.1	+	1	469	c.469G>A	c.(469-471)GGC>AGC	p.G157S		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	157	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)				GGGCATGTTTGGCCCCTTGGT	0.498													A	55563500	G	A	55563500	3	1	68	1	0	0	0	0	1	0	0	0	11155	1348	47	4	471	4	OR5D14	11	55563500	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	241372	55563500	79443016	142	48614											
OR5T2	219464	broad.mit.edu	37	chr11	55999981	55999981	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgtgagtgtcagaataAgaaatagcaaggagaggagg	15	2	1	4			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr11:55999981A>G	uc010rjc.1	-	1	681	c.681T>C	c.(679-681)TCT>TCC	p.S227S		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	227	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TGTCAGAATAAGAAATAGCAA	0.423													G	55999981	A	G	55999981	2	3	68	1	0	0	0	0	0	0	0	1	11182	59	3	3		3	OR5T2	11	55999981	Silent	SNP	A	TCGA-BR-8289-01A-11D-2340-08	436481	55999981	79006535	143	48615											
GLYATL2	219970	broad.mit.edu	37	chr11	58602155	58602155	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcacaatccaagagacaAgctggccctctggacccagc	8	16	2	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr11:58602155A>C	uc001nnd.3	-	6	763	c.632T>G	c.(631-633)CTT>CGT	p.L211R	GLYATL2_uc009ymq.2_Missense_Mutation_p.L211R	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	211						mitochondrion	glycine N-acyltransferase activity			ovary(1)|skin(1)	2		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CCAAGAGACAAGCTGGCCCTC	0.458													C	58602155	A	C	58602155	3	2	68	1	0	0	0	0	1	0	0	0	6481	72	3	5	256	5	GLYATL2	11	58602155	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	2602174	58602155	76404361	144	48616											
ODZ4	26011	broad.mit.edu	37	chr11	78381433	78381433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagtcctgtatgactgagGcattgccctcagggggctga	14	9	1	4			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr11:78381433G>A	uc001ozl.3	-	32	6420	c.5957C>T	c.(5956-5958)GCC>GTC	p.A1986V	ODZ4_uc001ozk.3_Missense_Mutation_p.A211V|ODZ4_uc009yvb.1_Missense_Mutation_p.A570V	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1986	Extracellular (Potential).|YD 8.				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						TATGACTGAGGCATTGCCCTC	0.547													A	78381433	G	A	78381433	3	1	68	1	0	0	0	0	1	0	0	0	10837	1203	42	2	2364	2	ODZ4	11	78381433	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	19779278	78381433	56625083	145	48617											
FOLH1B	219595	broad.mit.edu	37	chr11	89429883	89429883	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattagggttaccagacagaCctttttataggtaagaaaag	9	6	0	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr11:89429883C>A	uc001pda.2	+	13	1655	c.1129C>A	c.(1129-1131)CCT>ACT	p.P377T		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	377					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6						ACCAGACAGACCTTTTTATAG	0.299													A	89429883	C	A	89429883	3	1	68	1	0	0	0	0	1	0	0	0	5980	507	18	5	1171	5	FOLH1B	11	89429883	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	11048450	89429883	45576633	146	48618											
MTMR2	8898	broad.mit.edu	37	chr11	95574830	95574830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaattgaagaaaaacaggcGatctgtctgcatctgcatgg	10	7	3	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr11:95574830G>A	uc001pfu.2	-	12	1683	c.1430C>T	c.(1429-1431)TCG>TTG	p.S477L	MTMR2_uc001pfv.2_Missense_Mutation_p.S405L|MTMR2_uc001pfs.2_Missense_Mutation_p.S405L|MTMR2_uc001pft.2_Missense_Mutation_p.S405L	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	477	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAAACAGGCGATCTGTCTGC	0.388													A	95574830	G	A	95574830	3	1	68	1	0	0	0	0	1	0	0	0	9944	1059	37	1	517	1	MTMR2	11	95574830	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	6144947	95574830	39431686	147	48619											
KRT74	121391	broad.mit.edu	37	chr12	52964498	52964498	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcggccttgctcttcagggcGatctcctcataatgcatgcg	10	13	4	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr12:52964498G>A	uc001sap.1	-	5	1011	c.963C>T	c.(961-963)ATC>ATT	p.I321I		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	keratin 6 irs4	321	Rod.|Coil 2.					keratin filament	structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.191)		TCTTCAGGGCGATCTCCTCAT	0.607													A	52964498	G	A	52964498	2	1	68	1	0	0	0	0	0	0	0	1	8487	1048	37	1		1	KRT74	12	52964498	Silent	SNP	G	TCGA-BR-8289-01A-11D-2340-08		52964498	80887397	148	48620											
EPYC	1833	broad.mit.edu	37	chr12	91371910	91371910	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtgaattcaggctcctGgggagaagagccatcaatca	11	11	3	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr12:91371910G>A	uc001tbk.2	-	3	388	c.295C>T	c.(295-297)CAG>TAG	p.Q99*		NM_004950	NP_004941	Q99645	EPYC_HUMAN	dermatan sulfate proteoglycan 3 precursor	99					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			skin(1)	1						TCAGGCTCCTGGGGAGAAGAG	0.522											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	91371910	G	A	91371910	4	1	68	1	0	0	0	0	0	1	0	0	5201	1357	47	4	693	4	EPYC	12	91371910	Nonsense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	38407412	91371910	42479985	149	48621											
POLR3B	55703	broad.mit.edu	37	chr12	106895167	106895167	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagctgaaacacatggtgctAgataaaatgcatgcccgggc	11	9	0	2	rs144051136		TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr12:106895167A>T	uc001tlp.2	+	26	3273	c.3051A>T	c.(3049-3051)CTA>CTT	p.L1017L	POLR3B_uc001tlq.2_Silent_p.L959L	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	1017					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						ACATGGTGCTAGATAAAATGC	0.448													T	106895167	A	T	106895167	2	4	68	1	0	0	0	0	0	0	0	1	12229	407	15	5		5	POLR3B	12	106895167	Silent	SNP	A	TCGA-BR-8289-01A-11D-2340-08	15523257	106895167	26956728	150	48622											
TBX3	6926	broad.mit.edu	37	chr12	115114134	115114134	+	Frame_Shift_Del	DEL	C	C	-													ttacctttgaggttcgatgtCcctacagtggaggcggctgg							TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr12:115114134delC	uc001tvt.1	-	6	2047	c.1083delG	c.(1081-1083)GGGfs	p.G361fs	TBX3_uc001tvu.1_Frame_Shift_Del_p.G341fs	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	361					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			ovary(2)|skin(1)	3	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GGTTCGATGTCCCTACAGTGG	0.547													-	115114134	C	-	115114134	7	5	68	1	0	1	0	1	0	0	0	0	15656	842	30	0	1160	0	TBX3	12	115114134	Frame_Shift_Del	DEL	C	TCGA-BR-8289-01A-11D-2340-08	8218967	115114134	18737761	151	48623											
PRKAB1	5564	broad.mit.edu	37	chr12	120110200	120110201	+	Frame_Shift_Ins	INS	-	-	G													ccaacggtgtttcgatggacINSggggggcggaaaggaagttt					rs115821895	byFrequency	TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr12:120110200_120110201insG	uc009zwu.2	+	3	357_358	c.254_255insG	c.(253-255)ACGfs	p.T85fs	PRKAB1_uc001txg.2_Frame_Shift_Ins_p.T85fs	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN	AMP-activated protein kinase beta 1	85					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol					0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	TTTCGATGGACGGGGGGCGGAA	0.52													G	120110201	-	G	120110200	7	5	68	1	0	1	1	0	0	0	0	0	12495	536	19	0	260	0	PRKAB1	12	120110200	Frame_Shift_Ins	INS	-	TCGA-BR-8289-01A-11D-2340-08	4996066	120110200	13741695	152	48624	186	2									
PRKAB1	5564	broad.mit.edu	37	chr12	120110201	120110202	+	Frame_Shift_Ins	INS	-	-	G													caacggtgtttcgatggacgINSgggggcggaaaggaagttta					rs115821895	byFrequency	TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr12:120110200_120110201C>CG	uc009zwu.3	+	2	357_358	c.254_255C>CG	c.(253-255)acgfs	p.T85fs	PRKAB1_uc001txg.3_Frame_Shift_Ins_p.T85fs	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN	Homo sapiens protein kinase, AMP-activated, beta 1 non-catalytic subunit (PRKAB1), mRNA.	85					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	TTTCGATGGACGGGGGGCGGAA	0.52													G	120110202	-	G	120110201	7	5	68	1	0	1	1	0	0	0	0	0	12495	1103	39	0	261	0	PRKAB1	12	120110201	Frame_Shift_Ins	INS	-	TCGA-BR-8289-01A-11D-2340-08	1	120110201	13741694	153	48625	186	2									
ZCCHC8	55596	broad.mit.edu	37	chr12	122958719	122958719	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttgggagtggaggggtgaaGacgggtggaggagttccccg	21	5	0	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr12:122958719G>A	uc001ucn.2	-	14	1580	c.1449C>T	c.(1447-1449)GTC>GTT	p.V483V	ZCCHC8_uc001ucl.2_Silent_p.V94V|ZCCHC8_uc001ucm.2_Silent_p.V245V|ZCCHC8_uc009zxp.2_Silent_p.V245V|ZCCHC8_uc009zxq.2_Silent_p.V245V	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	483	Pro-rich.					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GAGGGGTGAAGACGGGTGGAG	0.587													A	122958719	G	A	122958719	2	1	68	1	0	0	0	0	0	0	0	1	17591	929	33	4		4	ZCCHC8	12	122958719	Silent	SNP	G	TCGA-BR-8289-01A-11D-2340-08	2848518	122958719	10893176	154	48626											
TMEM132D	121256	broad.mit.edu	37	chr12	129569124	129569124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgatctgcagcggaagccGgggcacccacaccgtcatct	11	16	3	0	rs144267550		TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr12:129569124G>A	uc009zyl.1	-	6	1895	c.1567C>T	c.(1567-1569)CGG>TGG	p.R523W	TMEM132D_uc001uia.2_Missense_Mutation_p.R61W	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	523	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGCGGAAGCCGGGGCACCCAC	0.567													A	129569124	G	A	129569124	3	1	68	1	0	0	0	0	1	0	0	0	16044	1115	39	1	1748	1	TMEM132D	12	129569124	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	6610405	129569124	4282771	155	48627											
FRY	10129	broad.mit.edu	37	chr13	32798522	32798522	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccccgggggccactccacaGgtgagcagcatgtgtgggga	16	12	0	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr13:32798522G>T	uc001utx.2	+	37	5412	c.4916G>T	c.(4915-4917)AGG>ATG	p.R1639M	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCACTCCACAGGTGAGCAGCA	0.537													T	32798522	G	T	32798522	3	4	68	1	0	0	0	0	1	0	0	0	6063	1014	35	5	5062	5	FRY	13	32798522	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08		32798522	82371356	156	48628											
TNFSF11	8600	broad.mit.edu	37	chr13	43148629	43148629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggccaggttgtctgcagcGtcgccctgttcttctatttc	11	12	3	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr13:43148629G>A	uc001uyu.2	+	1	339	c.190G>A	c.(190-192)GTC>ATC	p.V64I	TNFSF11_uc001uyt.2_Intron	NM_003701	NP_003692	O14788	TNF11_HUMAN	tumor necrosis factor ligand superfamily, member	64	Helical; Signal-anchor for type II membrane protein; (Potential).				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding				0		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		TGTCTGCAGCGTCGCCCTGTT	0.697													A	43148629	G	A	43148629	3	1	68	1	0	0	0	0	1	0	0	0	16299	1145	40	1	192	1	TNFSF11	13	43148629	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	10350107	43148629	72021249	157	48629											
UTP14C	9724	broad.mit.edu	37	chr13	52603712	52603712	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atcacaaagtcgtgaagaaaGgaaaggccaagaaagcctta	10	7	1	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr13:52603712G>C	uc001vgb.2	+	2	1307	c.772G>C	c.(772-774)GGA>CGA	p.G258R	UTP14C_uc001vga.2_3'UTR|UTP14C_uc001vgc.2_RNA	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	258					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				ovary(3)|large_intestine(1)|breast(1)	5		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CGTGAAGAAAGGAAAGGCCAA	0.418													C	52603712	G	C	52603712	3	2	68	1	0	0	0	0	1	0	0	0	17093	1001	35	5	774	5	UTP14C	13	52603712	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	9455083	52603712	62566166	158	48630											
OR4K5	79317	broad.mit.edu	37	chr14	20388855	20388855	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagcttttctatttttgtttCttctctgtgttgtatacagt	6	7	3	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr14:20388855C>A	uc010tkw.1	+	1	90	c.90C>A	c.(88-90)TTC>TTA	p.F30L		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTTTTGTTTCTTCTCTGTGT	0.413													A	20388855	C	A	20388855	3	1	68	1	0	0	0	0	1	0	0	0	11073	912	32	5	92	5	OR4K5	14	20388855	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08		20388855	86960685	159	48631											
OR4K15	81127	broad.mit.edu	37	chr14	20444306	20444306	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttcctctagtgaccaAgttagcctgcatagacactt	7	12	1	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr14:20444306A>C	uc010tkx.1	+	1	629	c.629A>C	c.(628-630)AAG>ACG	p.K210T		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	210	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTAGTGACCAAGTTAGCCTGC	0.418													C	20444306	A	C	20444306	3	2	68	1	0	0	0	0	1	0	0	0	11070	72	3	5	631	5	OR4K15	14	20444306	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	55451	20444306	86905234	160	48632											
TOX4	9878	broad.mit.edu	37	chr14	21955783	21955783	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggggtccagacattggaCatgcctgtgggcatgaccca	13	10	0	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr14:21955783C>T	uc001waz.2	+	3	352	c.249C>T	c.(247-249)GAC>GAT	p.D83D	TOX4_uc001way.2_5'UTR|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Silent_p.D60D|TOX4_uc010tlv.1_Intron	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	83						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			ovary(1)	1	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGACATTGGACATGCCTGTGG	0.577													T	21955783	C	T	21955783	2	4	68	1	0	0	0	0	0	0	0	1	16377	477	17	4		4	TOX4	14	21955783	Silent	SNP	C	TCGA-BR-8289-01A-11D-2340-08	1511477	21955783	85393757	161	48633											
PRKD1	5587	broad.mit.edu	37	chr14	30093429	30093429	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcgtaatttgtcaatgatttTaatagctacatctcttcctg	5	8	2	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr14:30093429T>A	uc001wqh.2	-	13	2015	c.1834A>T	c.(1834-1836)AAA>TAA	p.K612*		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	612	Protein kinase.	ATP.		K->W: Loss of kinase activity.	cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCAATGATTTTAATAGCTACA	0.318													A	30093429	T	A	30093429	4	1	68	1	0	0	0	0	0	1	0	0	12518	1763	61	5	928	5	PRKD1	14	30093429	Nonsense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	8137646	30093429	77256111	162	48634											
KIAA0586	9786	broad.mit.edu	37	chr14	58955445	58955445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttcctgccggcaccaagGccccttccccctcacagatg	7	19	1	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr14:58955445G>A	uc001xdv.3	+	23	3679	c.3406G>A	c.(3406-3408)GCC>ACC	p.A1136T	KIAA0586_uc010trr.1_Missense_Mutation_p.A1253T|KIAA0586_uc001xdt.3_Missense_Mutation_p.A1168T|KIAA0586_uc001xdu.3_Missense_Mutation_p.A1197T|KIAA0586_uc010trs.1_Missense_Mutation_p.A1127T|KIAA0586_uc010trt.1_Missense_Mutation_p.A1072T	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	1136										ovary(1)	1						CGGCACCAAGGCCCCTTCCCC	0.502													A	58955445	G	A	58955445	3	1	68	1	0	0	0	0	1	0	0	0	8186	1203	42	2	3496	2	KIAA0586	14	58955445	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	28862016	58955445	48394095	163	48635											
SIX4	51804	broad.mit.edu	37	chr14	61190154	61190154	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggtgcggggcagggggaaTttcctgcgcagccggtactt	17	9	0	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr14:61190154T>C	uc001xfc.2	-	1	639	c.639A>G	c.(637-639)AAA>AAG	p.K213K	SIX4_uc010app.1_Silent_p.K205K	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	sine oculis homeobox homolog 4	213						nucleus				breast(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GCAGGGGGAATTTCCTGCGCA	0.647													C	61190154	T	C	61190154	2	2	68	1	0	0	0	0	0	0	0	1	14349	1490	52	3		3	SIX4	14	61190154	Silent	SNP	T	TCGA-BR-8289-01A-11D-2340-08	2234709	61190154	46159386	164	48636											
SYNE2	23224	broad.mit.edu	37	chr14	64596767	64596767	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcttctcttttcaggAtgtacttgacagtatgtggg	10	9	3	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr14:64596767A>G	uc001xgm.2	+	76	14371	c.14141A>G	c.(14140-14142)GAT>GGT	p.D4714G	SYNE2_uc001xgl.2_Missense_Mutation_p.D4714G|SYNE2_uc010apy.2_Missense_Mutation_p.D1099G|SYNE2_uc010apz.1_Missense_Mutation_p.D606G	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4714	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTTTTCAGGATGTACTTGAC	0.473													G	64596767	A	G	64596767	3	3	68	1	0	0	0	0	1	0	0	0	15443	347	12	3	14439	3	SYNE2	14	64596767	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	3406613	64596767	42752773	165	48637											
ADAM21	8747	broad.mit.edu	37	chr14	70925003	70925003	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggaattgaaatttggaatCaaggaaatgttttcccaatg	9	4	1	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr14:70925003C>A	uc001xmd.2	+	1	787	c.787C>A	c.(787-789)CAA>AAA	p.Q263K		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	263	Peptidase M12B.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AATTTGGAATCAAGGAAATGT	0.373													A	70925003	C	A	70925003	3	1	68	1	0	0	0	0	1	0	0	0	243	827	29	5	789	5	ADAM21	14	70925003	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	6328236	70925003	36424537	166	48638											
KIAA1409	57578	broad.mit.edu	37	chr14	94044270	94044270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctttccagagtccgtttcGgagtcctttgcgtagtccgt	10	12	0	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr14:94044270G>A	uc001ybv.1	+	15	1846	c.1763G>A	c.(1762-1764)CGG>CAG	p.R588Q	KIAA1409_uc001ybs.1_Missense_Mutation_p.R588Q	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	765						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		AGTCCGTTTCGGAGTCCTTTG	0.448													A	94044270	G	A	94044270	3	1	68	1	0	0	0	0	1	0	0	0	8230	1116	39	1	1821	1	KIAA1409	14	94044270	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	23119267	94044270	13305270	167	48639											
AHNAK2	113146	broad.mit.edu	37	chr14	105414728	105414728	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccccctgcatggaggggaGgctcacgtcggcctccacct	13	16	1	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr14:105414728G>T	uc010axc.1	-	7	7180	c.7060C>A	c.(7060-7062)CTC>ATC	p.L2354I	AHNAK2_uc001ypx.2_Missense_Mutation_p.L2254I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2354						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)			ATGGAGGGGAGGCTCACGTCG	0.617													T	105414728	G	T	105414728	3	4	68	1	0	0	0	0	1	0	0	0	415	1000	35	5	10331	5	AHNAK2	14	105414728	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	11370458	105414728	1934812	168	48640											
SLC12A1	6557	broad.mit.edu	37	chr15	48559802	48559802	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagatgaacagtggcatggcGaaaaaacaggcctggcttat	13	7	0	2	rs150609105	byFrequency	TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr15:48559802G>A	uc001zwn.3	+	18	2415	c.2199G>A	c.(2197-2199)GCG>GCA	p.A733A	SLC12A1_uc010uew.1_Silent_p.A539A|SLC12A1_uc010bem.2_Silent_p.A733A|SLC12A1_uc001zwq.3_Silent_p.A504A|SLC12A1_uc001zwr.3_Silent_p.A460A	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	733					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GTGGCATGGCGAAAAAACAGG	0.443													A	48559802	G	A	48559802	2	1	68	1	0	0	0	0	0	0	0	1	14382	1045	37	1		1	SLC12A1	15	48559802	Silent	SNP	G	TCGA-BR-8289-01A-11D-2340-08		48559802	53971590	169	48641											
FBN1	2200	broad.mit.edu	37	chr15	48797233	48797233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttaccaacacacacaCggccatccagacccacagcc	4	18	1	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr15:48797233C>T	uc001zwx.1	-	16	2277	c.1949G>A	c.(1948-1950)CGT>CAT	p.R650H		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	650	EGF-like 10; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AACACACACACGGCCATCCAG	0.498													T	48797233	C	T	48797233	3	4	68	1	0	0	0	0	1	0	0	0	5702	536	19	1	6870	1	FBN1	15	48797233	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	237431	48797233	53734159	170	48642											
SECISBP2L	9728	broad.mit.edu	37	chr15	49308888	49308888	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttttttccagctgcttttGataaagcttcctacaaaata	4	9	1	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr15:49308888G>A	uc001zxe.1	-	11	1564	c.1430C>T	c.(1429-1431)TCA>TTA	p.S477L	SECISBP2L_uc001zxd.1_Missense_Mutation_p.S432L|SECISBP2L_uc010bep.1_Missense_Mutation_p.S239L	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	477										breast(1)|skin(1)	2						AGCTGCTTTTGATAAAGCTTC	0.333													A	49308888	G	A	49308888	3	1	68	1	0	0	0	0	1	0	0	0	14007	1294	45	4	1907	4	SECISBP2L	15	49308888	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	511655	49308888	53222504	171	48643											
MYO5A	4644	broad.mit.edu	37	chr15	52613705	52613705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgttgtgcttcataaagCcctagagtcataaggcaaag	10	7	2	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr15:52613705C>T	uc002aby.2	-	37	4971	c.4727G>A	c.(4726-4728)GGC>GAC	p.G1576D	MYO5A_uc002abx.3_Missense_Mutation_p.G1549D|MYO5A_uc010ugd.1_Missense_Mutation_p.G298D	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	1576	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTTCATAAAGCCCTAGAGTCA	0.433													T	52613705	C	T	52613705	3	4	68	1	0	0	0	0	1	0	0	0	10078	753	26	2	860	2	MYO5A	15	52613705	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	3304817	52613705	49917687	172	48644											
DPP8	54878	broad.mit.edu	37	chr15	65739344	65739344	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctctcctgaggatagaTcttaccaacaacaaaaaata	6	9	2	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr15:65739344T>A	uc002aov.2	-	20	4153	c.2575A>T	c.(2575-2577)ATC>TTC	p.I859F	DPP8_uc002aow.2_Missense_Mutation_p.I859F|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.I843F|DPP8_uc002aoy.2_Missense_Mutation_p.I808F|DPP8_uc002aoz.2_Missense_Mutation_p.I743F|DPP8_uc010bhj.2_Missense_Mutation_p.I859F|DPP8_uc002apa.2_Intron|DPP8_uc010bhi.2_Missense_Mutation_p.I162F	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	dipeptidyl peptidase 8 isoform 1	859					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			ovary(1)	1						TGAGGATAGATCTTACCAACA	0.328													A	65739344	T	A	65739344	3	1	68	1	0	0	0	0	1	0	0	0	4732	1449	50	5	125	5	DPP8	15	65739344	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	13125639	65739344	36792048	173	48645											
NTRK3	4916	broad.mit.edu	37	chr15	88680715	88680715	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggttctggctgttgagcTtggcctccccctgctcctgc	12	14	1	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr15:88680715T>C	uc002bme.1	-	6	704	c.542A>G	c.(541-543)AAG>AGG	p.K181R	NTRK3_uc002bmh.2_Missense_Mutation_p.K181R|NTRK3_uc002bmf.1_Missense_Mutation_p.K181R|NTRK3_uc010upl.1_Missense_Mutation_p.K83R|NTRK3_uc010bnh.1_Missense_Mutation_p.K181R|NTRK3_uc002bmg.2_Missense_Mutation_p.K181R	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	181	Extracellular (Potential).|LRRCT.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTGTTGAGCTTGGCCTCCCC	0.572			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			C	88680715	T	C	88680715	3	2	68	1	0	0	0	0	1	0	0	0	10708	1609	56	3	2295	3	NTRK3	15	88680715	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	22941371	88680715	13850677	174	48646											
LRRK1	79705	broad.mit.edu	37	chr15	101528929	101528929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaagctcctggtcctgaCgcacggggctgacccggaga	15	12	0	4			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr15:101528929C>T	uc002bwr.2	+	5	843	c.524C>T	c.(523-525)ACG>ATG	p.T175M	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bwq.1_Missense_Mutation_p.T175M	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	175	ANK 3.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.T148M(1)		ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGGTCCTGACGCACGGGGCT	0.632													T	101528929	C	T	101528929	3	4	68	1	0	0	0	0	1	0	0	0	9032	536	19	1	538	1	LRRK1	15	101528929	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	12848214	101528929	1002463	175	48647											
SETD1A	9739	broad.mit.edu	37	chr16	30982811	30982811	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctcttccagctcctcatcCtcctcctcctcctcgtcctc	3	22	2	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr16:30982811C>A	uc002ead.1	+	13	3815	c.3129C>A	c.(3127-3129)TCC>TCA	p.S1043S		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1043	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						Gctcctcatcctcctcctcct	0.383													A	30982811	C	A	30982811	2	1	68	1	0	0	0	0	0	0	0	1	14130	668	24	5		5	SETD1A	16	30982811	Silent	SNP	C	TCGA-BR-8289-01A-11D-2340-08		30982811	59371942	176	48648											
ZNF646	9726	broad.mit.edu	37	chr16	31089848	31089848	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actgtttgcaggctgaatctGaaggggacaaatgtgggctt	14	6	1	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr16:31089848G>A	uc002eap.2	+	2	2492	c.2203G>A	c.(2203-2205)GAA>AAA	p.E735K		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	735					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						GGCTGAATCTGAAGGGGACAA	0.542													A	31089848	G	A	31089848	3	1	68	1	0	0	0	0	1	0	0	0	18059	1291	45	4	2205	4	ZNF646	16	31089848	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	107037	31089848	59264905	177	48649											
CNOT1	23019	broad.mit.edu	37	chr16	58633182	58633182	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcggtaatttttcttggtTaaattgtccaccaggtagct	9	8	1	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr16:58633182T>G	uc002env.2	-	2	353	c.60A>C	c.(58-60)TTA>TTC	p.L20F	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.L20F|CNOT1_uc002enx.2_Missense_Mutation_p.L20F|CNOT1_uc002enz.1_5'UTR	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	20					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTTTCTTGGTTAAATTGTCCA	0.493													G	58633182	T	G	58633182	3	3	68	1	0	0	0	0	1	0	0	0	3617	1751	61	5	7484	5	CNOT1	16	58633182	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	27543334	58633182	31721571	178	48650											
RLTPR	146206	broad.mit.edu	37	chr16	67688536	67688536	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acacaagagatagcaaggccTactcgatgatactgctgcct	9	11	0	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr16:67688536T>A	uc002etn.2	+	31	3643	c.3523T>A	c.(3523-3525)TAC>AAC	p.Y1175N	RLTPR_uc010vjr.1_Missense_Mutation_p.Y1139N	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	1175										breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TAGCAAGGCCTACTCGATGAT	0.647													A	67688536	T	A	67688536	3	1	68	1	0	0	0	0	1	0	0	0	13394	1522	53	5	3645	5	RLTPR	16	67688536	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	9055354	67688536	22666217	179	48651											
ANKRD11	29123	broad.mit.edu	37	chr16	89351933	89351933	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgtccttgacgggggccgtGgccttctgtggctctgggtt	16	11	2	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr16:89351933G>C	uc002fmx.1	-	9	1478	c.1017C>G	c.(1015-1017)GCC>GCG	p.A339A	ANKRD11_uc002fmy.1_Silent_p.A339A|ANKRD11_uc002fnc.1_Silent_p.A339A|ANKRD11_uc002fnb.1_Silent_p.A296A	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	339						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGGGGGCCGTGGCCTTCTGTG	0.552													C	89351933	G	C	89351933	2	2	68	1	0	0	0	0	0	0	0	1	639	1335	47	5		5	ANKRD11	16	89351933	Silent	SNP	G	TCGA-BR-8289-01A-11D-2340-08	21663397	89351933	1002820	180	48652											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576	by1000genomes	TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr17:7577120C>T	uc002gim.2	-	8	1012	c.818G>A	c.(817-819)CGT>CAT	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577120	C	T	7577120	3	4	68	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08		7577120	73618090	181	48653											
RPL23A	6147	broad.mit.edu	37	chr17	27047880	27047880	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tccggagacagcccaaatatCctcggaagagcgctcccagg	11	14	0	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr17:27047880C>G	uc002hci.2	+	2	205	c.181C>G	c.(181-183)CCT>GCT	p.P61A	RAB34_uc002hce.2_5'Flank|RAB34_uc002hcg.2_5'Flank|RAB34_uc002hcf.2_5'Flank|RAB34_uc010was.1_5'Flank|RAB34_uc010wat.1_5'Flank|RAB34_uc002hch.2_5'Flank|RAB34_uc010wau.1_5'Flank|RAB34_uc010wav.1_5'Flank|RPL23A_uc002hck.1_RNA|SNORD4A_uc002hcl.2_5'Flank|SNORD42A_uc002hcm.1_5'Flank|SNORD4B_uc002hcn.1_5'Flank	NM_000984	NP_000975	P62750	RL23A_HUMAN	ribosomal protein L23a	61					cell proliferation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	nucleotide binding|protein binding|rRNA binding|structural constituent of ribosome			ovary(1)	1	Lung NSC(42;0.00431)					GCCCAAATATCCTCGGAAGAG	0.512											OREG0024282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	27047880	C	G	27047880	3	3	68	1	0	0	0	0	1	0	0	0	13571	855	30	5	187	5	RPL23A	17	27047880	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	19470760	27047880	54147330	182	48654											
C17orf37	84299	broad.mit.edu	37	chr17	37886535	37886535	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtaggtcgcctcgaagccGcagggttcactggggagtca	16	10	2	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr17:37886535G>T	uc002hsq.2	-	2	139	c.99C>A	c.(97-99)TGC>TGA	p.C33*		NM_032339	NP_115715	Q9BRT3	CQ037_HUMAN	hypothetical protein LOC84299	33					cell redox homeostasis	cytosol|membrane	selenium binding				0	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;3.72e-63)|all cancers(3;1.87e-56)|BRCA - Breast invasive adenocarcinoma(8;6.8e-45)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCTCGAAGCCGCAGGGTTCAC	0.697											OREG0024383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	37886535	G	T	37886535	4	4	68	1	0	0	0	0	0	1	0	0	1854	1079	38	5	260	5	C17orf37	17	37886535	Nonsense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	10838655	37886535	43308675	183	48655											
UNK	85451	broad.mit.edu	37	chr17	73820418	73820418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgctgccgtgccaacacGctgcgctgtgtgagctctgc	13	14	1	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr17:73820418G>A	uc002jpm.2	+	17	2581	c.2581G>A	c.(2581-2583)GCT>ACT	p.A861T		NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	785	RING-type; degenerate.						nucleic acid binding|zinc ion binding				0			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGCCAACACGCTGCGCTGTG	0.657													A	73820418	G	A	73820418	3	1	68	1	0	0	0	0	1	0	0	0	16997	1087	38	1	2647	1	UNK	17	73820418	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	35933883	73820418	7374792	184	48656											
CDK3	1018	broad.mit.edu	37	chr17	73997514	73997514	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctctgtggccatggataTgttccagaaggtagagaaga	13	7	1	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr17:73997514T>C	uc010dgt.2	+	2	84	c.8T>C	c.(7-9)ATG>ACG	p.M3T	CDK3_uc002jqg.3_Missense_Mutation_p.M31T	NM_001258	NP_001249	Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	3					cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						GCCATGGATATGTTCCAGAAG	0.577													C	73997514	T	C	73997514	3	2	68	1	0	0	0	0	1	0	0	0	3140	1464	51	3	10	3	CDK3	17	73997514	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	177096	73997514	7197696	185	48657											
SEC14L1	6397	broad.mit.edu	37	chr17	75196731	75196731	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccttcaggattactacgcgGgaggctggcatcatcacgac	11	12	3	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr17:75196731G>T	uc002jto.2	+	9	1252	c.985G>T	c.(985-987)GGA>TGA	p.G329*	SEC14L1_uc010dhc.2_Nonsense_Mutation_p.G329*|SEC14L1_uc010wth.1_Nonsense_Mutation_p.G329*|SEC14L1_uc002jtm.2_Nonsense_Mutation_p.G329*|SEC14L1_uc010wti.1_Nonsense_Mutation_p.G295*	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	329	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						TTACTACGCGGGAGGCTGGCA	0.488													T	75196731	G	T	75196731	4	4	68	1	0	0	0	0	0	1	0	0	13981	1233	43	5	1011	5	SEC14L1	17	75196731	Nonsense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	1199217	75196731	5998479	186	48658											
SEC14L1	6397	broad.mit.edu	37	chr17	75208180	75208180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccacagcatcacctctcCgggtgggaacaatgtgcagc	11	14	2	0	rs143885262	byFrequency	TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr17:75208180C>T	uc002jto.2	+	15	2027	c.1760C>T	c.(1759-1761)CCG>CTG	p.P587L	SEC14L1_uc010dhc.2_Missense_Mutation_p.P587L|SEC14L1_uc010wth.1_Missense_Mutation_p.P587L|SEC14L1_uc002jtm.2_Missense_Mutation_p.P587L|SEC14L1_uc010wti.1_Missense_Mutation_p.P553L|SEC14L1_uc010wtj.1_Intron|SEC14L1_uc002jtr.2_5'UTR	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	587	GOLD.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						ATCACCTCTCCGGGTGGGAAC	0.547													T	75208180	C	T	75208180	3	4	68	1	0	0	0	0	1	0	0	0	13981	652	23	1	1810	1	SEC14L1	17	75208180	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	11449	75208180	5987030	187	48659											
EPB41L3	23136	broad.mit.edu	37	chr18	5398038	5398038	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgaacccagctttgagaAgtagaagtaacccctcctat	7	12	0	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr18:5398038A>C	uc002kmt.1	-	17	2540	c.2454T>G	c.(2452-2454)ACT>ACG	p.T818T	EPB41L3_uc010wzh.1_Silent_p.T649T|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Silent_p.T123T|EPB41L3_uc010wzf.1_Silent_p.T115T|EPB41L3_uc010wzg.1_Silent_p.T90T|EPB41L3_uc010dkr.2_Silent_p.T210T	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	818	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						AGCTTTGAGAAGTAGAAGTAA	0.463													C	5398038	A	C	5398038	2	2	68	1	0	0	0	0	0	0	0	1	5154	59	3	5		5	EPB41L3	18	5398038	Silent	SNP	A	TCGA-BR-8289-01A-11D-2340-08		5398038	72679210	188	48660											
MYO5B	4645	broad.mit.edu	37	chr18	47402144	47402144	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccagctcccgtactctcttCtgcagcttcaggaagaccgt	8	15	3	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr18:47402144C>T	uc002leb.2	-	26	3738	c.3450G>A	c.(3448-3450)CAG>CAA	p.Q1150Q	MYO5B_uc002lea.2_Silent_p.Q291Q	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1150	Potential.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		GTACTCTCTTCTGCAGCTTCA	0.507													T	47402144	C	T	47402144	2	4	68	1	0	0	0	0	0	0	0	1	10079	912	32	4		4	MYO5B	18	47402144	Silent	SNP	C	TCGA-BR-8289-01A-11D-2340-08	42004106	47402144	30675104	189	48661											
DENND1C	79958	broad.mit.edu	37	chr19	6475579	6475579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaccacgacgtcctccagGgctttttctcgtactctctg	8	15	2	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:6475579G>A	uc002mfe.2	-	13	935	c.843C>T	c.(841-843)GCC>GCT	p.A281A	DENND1C_uc002mfb.2_5'UTR|DENND1C_uc002mfc.2_5'UTR|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Silent_p.A237A	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	281	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1						CGTCCTCCAGGGCTTTTTCTC	0.622													A	6475579	G	A	6475579	2	1	68	1	0	0	0	0	0	0	0	1	4428	1219	43	4		4	DENND1C	19	6475579	Silent	SNP	G	TCGA-BR-8289-01A-11D-2340-08		6475579	52653404	190	48662											
C3	718	broad.mit.edu	37	chr19	6707204	6707204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggagatgaaacgggtccGgcgctggcacgagaacctca	15	11	1	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:6707204G>A	uc002mfm.2	-	17	2190	c.2128C>T	c.(2128-2130)CGG>TGG	p.R710W		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	710	Anaphylatoxin-like.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AAACGGGTCCGGCGCTGGCAC	0.657													A	6707204	G	A	6707204	3	1	68	1	0	0	0	0	1	0	0	0	2204	1115	39	1	2963	1	C3	19	6707204	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	231625	6707204	52421779	191	48663											
MUC16	94025	broad.mit.edu	37	chr19	9061337	9061337	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatccagaagtcagggaggaAgttggctgtgtcatcatagt	13	6	3	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:9061337A>C	uc002mkp.2	-	3	26313	c.26109T>G	c.(26107-26109)ACT>ACG	p.T8703T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8705	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCAGGGAGGAAGTTGGCTGTG	0.493													C	9061337	A	C	9061337	2	2	68	1	0	0	0	0	0	0	0	1	9973	59	3	5		5	MUC16	19	9061337	Silent	SNP	A	TCGA-BR-8289-01A-11D-2340-08	2354133	9061337	50067646	192	48664											
MUC16	94025	broad.mit.edu	37	chr19	9061989	9061989	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgctgattctgtcataAtgggggaagtagaaagcctg	12	6	3	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:9061989A>C	uc002mkp.2	-	3	25661	c.25457T>G	c.(25456-25458)ATT>AGT	p.I8486S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8488	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTCTGTCATAATGGGGGAAGT	0.488													C	9061989	A	C	9061989	3	2	68	1	0	0	0	0	1	0	0	0	9973	101	4	5	18394	5	MUC16	19	9061989	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	652	9061989	50066994	193	48665											
KLF1	10661	broad.mit.edu	37	chr19	12997936	12997936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctgatggagggcaaggCggtctcggctgtggccatgg	19	8	1	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:12997936C>T	uc002mvo.2	-	1	82	c.19G>A	c.(19-21)GCC>ACC	p.A7T		NM_006563	NP_006554	Q13351	KLF1_HUMAN	erythroid Kruppel-like factor	7	Pro-rich.				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGGCAAGGCGGTCTCGGCT	0.652													T	12997936	C	T	12997936	3	4	68	1	0	0	0	0	1	0	0	0	8337	768	27	1	1081	1	KLF1	19	12997936	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	3935947	12997936	46131047	194	48666											
CALR	811	broad.mit.edu	37	chr19	13054654	13054674	+	In_Frame_Del	DEL	ATGAGGAGGATGAGGAGGACA	ATGAGGAGGATGAGGAGGACA	-													tgatgaggacaaagatgaggAtgaggaggatgaggaggaca					rs141114321	byFrequency	TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:13054654_13054674delATGAGGAGGATGAGGAGGACA	uc002mvu.2	+	9	1261_1281	c.1181_1201delATGAGGAGGATGAGGAGGACA	c.(1180-1203)GATGAGGAGGATGAGGAGGACAAG>GAG	p.394_401DEEDEEDK>E	CALR_uc002mvv.2_RNA|RAD23A_uc002mvw.1_5'Flank|RAD23A_uc002mvx.1_5'Flank|RAD23A_uc002mvz.1_5'Flank|RAD23A_uc002mwa.1_5'Flank|RAD23A_uc002mvy.1_5'Flank|RAD23A_uc010xmw.1_5'Flank	NM_004343	NP_004334	P27797	CALR_HUMAN	calreticulin precursor	394_401	C-domain.|Asp/Glu/Lys-rich.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	aaagatgaggatgaggaggatgaggaggacaaggaggaaga	0.362													-	13054674	ATGAGGAGGATGAGGAGGACA	-	13054654	7	5	68	1	0	1	0	1	0	0	0	0	2592	333	12	0	1215	0	CALR	19	13054654	In_Frame_Del	DEL	ATGAGGAGGATGAGGAGGACA	TCGA-BR-8289-01A-11D-2340-08	56718	13054654	46074329	195	48667											
CD97	976	broad.mit.edu	37	chr19	14517953	14517953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgttcatcttcgacgatcGgagcttggtgctgacctatg	11	11	2	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:14517953G>A	uc002myl.2	+	18	2411	c.2288G>A	c.(2287-2289)CGG>CAG	p.R763Q	CD97_uc002mym.2_Missense_Mutation_p.R714Q|CD97_uc002myn.2_Missense_Mutation_p.R670Q	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	763	Extracellular (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)|breast(1)	4						TTCGACGATCGGAGCTTGGTG	0.597													A	14517953	G	A	14517953	3	1	68	1	0	0	0	0	1	0	0	0	3049	1116	39	1	2358	1	CD97	19	14517953	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	1463299	14517953	44611030	196	48668											
PLEKHF1	79156	broad.mit.edu	37	chr19	30165082	30165082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagtcctttgtggtgtcGgccgcctccgctacggagcg	14	12	0	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:30165082G>A	uc002nsh.3	+	2	438	c.336G>A	c.(334-336)TCG>TCA	p.S112S	PLEKHF1_uc002nsi.3_Silent_p.S197S	NM_024310	NP_077286	Q96S99	PKHF1_HUMAN	apoptosis-inducing protein D	112	PH.				apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding				0	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			TTGTGGTGTCGGCCGCCTCCG	0.657													A	30165082	G	A	30165082	2	1	68	1	0	0	0	0	0	0	0	1	12066	1103	39	1		1	PLEKHF1	19	30165082	Silent	SNP	G	TCGA-BR-8289-01A-11D-2340-08	15647129	30165082	28963901	197	48669											
LRP3	4037	broad.mit.edu	37	chr19	33696647	33696647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggaccgcctgctgcagaCgctgtcctaccgcagcaacc	12	17	0	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:33696647C>T	uc010edh.2	+	5	1064	c.971C>T	c.(970-972)ACG>ATG	p.T324M	LRP3_uc010xrp.1_Missense_Mutation_p.T198M|LRP3_uc002nuk.3_Missense_Mutation_p.T198M	NM_002333	NP_002324	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein	324	Extracellular (Potential).|CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			pancreas(2)|ovary(1)	3	Esophageal squamous(110;0.137)					CTGCTGCAGACGCTGTCCTAC	0.736													T	33696647	C	T	33696647	3	4	68	1	0	0	0	0	1	0	0	0	8958	536	19	1	989	1	LRP3	19	33696647	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	3531565	33696647	25432336	198	48670											
NFKBID	84807	broad.mit.edu	37	chr19	36386962	36386962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgtgtgctcagcacccGgggacagaggtcggaagggc	18	11	1	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:36386962G>A	uc002oci.1	-	9	1100	c.526C>T	c.(526-528)CGG>TGG	p.R176W	NFKBID_uc002och.1_5'UTR|NFKBID_uc002ocj.1_Missense_Mutation_p.R191W	NM_139239	NP_640332	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene	176	ANK 4.				inflammatory response	nucleus					0						CTCAGCACCCGGGGACAGAGG	0.627													A	36386962	G	A	36386962	3	1	68	1	0	0	0	0	1	0	0	0	10379	1115	39	1	431	1	NFKBID	19	36386962	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	2690315	36386962	22742021	199	48671											
ZNF573	126231	broad.mit.edu	37	chr19	38229531	38229531	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaacaaggtttgaagcacgActgaaggccttcccacattc	9	11	0	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:38229531A>G	uc002ohe.2	-	4	1882	c.1860T>C	c.(1858-1860)AGT>AGC	p.S620S	ZNF573_uc010efs.2_Silent_p.S533S|ZNF573_uc002ohd.2_Silent_p.S618S|ZNF573_uc002ohf.2_Silent_p.S562S|ZNF573_uc002ohg.2_Silent_p.S532S	NM_152360	NP_689573	Q86YE8	ZN573_HUMAN	zinc finger protein 573	600	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTGAAGCACGACTGAAGGCCT	0.413													G	38229531	A	G	38229531	2	3	68	1	0	0	0	0	0	0	0	1	18002	272	10	3		3	ZNF573	19	38229531	Silent	SNP	A	TCGA-BR-8289-01A-11D-2340-08	1842569	38229531	20899452	200	48672											
MARK4	57787	broad.mit.edu	37	chr19	45801008	45801008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatcaggggagcggagccGcctggcacgtggttccacca	14	15	1	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:45801008G>A	uc002pbb.1	+	15	1678	c.1673G>A	c.(1672-1674)CGC>CAC	p.R558H	MARK4_uc002pba.1_Missense_Mutation_p.R558H			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;	558					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GAGCGGAGCCGCCTGGCACGT	0.711													A	45801008	G	A	45801008	3	1	68	1	0	0	0	0	1	0	0	0	9315	1087	38	1	1731	1	MARK4	19	45801008	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	7571477	45801008	13327975	201	48673											
CCDC155	147872	broad.mit.edu	37	chr19	49913073	49913073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgtggcagtgggaggaaGtcatccatgagaccagtgag	18	6	1	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:49913073G>A	uc002pnm.1	+	15	1384	c.1210G>A	c.(1210-1212)GTC>ATC	p.V404I	CCDC155_uc010emx.1_Missense_Mutation_p.V375I	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	404						integral to membrane	calcium ion binding			ovary(1)|central_nervous_system(1)	2						GTGGGAGGAAGTCATCCATGA	0.552													A	49913073	G	A	49913073	3	1	68	1	0	0	0	0	1	0	0	0	2788	1029	36	4	1264	4	CCDC155	19	49913073	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	4112065	49913073	9215910	202	48674											
PPP2R1A	5518	broad.mit.edu	37	chr19	52722958	52722958	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcagtgccctgaggtacgGctgaacatcatctctaacct	8	14	3	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:52722958G>T	uc002pyp.2	+	10	1302	c.1143G>T	c.(1141-1143)CGG>CGT	p.R381R	PPP2R1A_uc010ydk.1_Silent_p.R326R|PPP2R1A_uc002pyq.2_Silent_p.R202R	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	381	PP2A subunit B binding.|HEAT 10.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CTGAGGTACGGCTGAACATCA	0.547			Mis		clear cell ovarian carcinoma								T	52722958	G	T	52722958	2	4	68	1	0	0	0	0	0	0	0	1	12382	1190	42	5		5	PPP2R1A	19	52722958	Silent	SNP	G	TCGA-BR-8289-01A-11D-2340-08	2809885	52722958	6406025	203	48675											
EPS8L1	54869	broad.mit.edu	37	chr19	55597230	55597230	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccgagacttggagccagaAtctgagcctcagctggagtc	12	12	2	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:55597230A>G	uc002qis.3	+	15	1511	c.1407A>G	c.(1405-1407)GAA>GAG	p.E469E	EPS8L1_uc010ess.1_Silent_p.E483E|EPS8L1_uc010yfr.1_Silent_p.E405E|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Silent_p.E342E|EPS8L1_uc002qiv.2_Silent_p.E147E|EPS8L1_uc002qiw.2_Silent_p.E248E	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	epidermal growth factor receptor pathway	469						cytoplasm					0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TGGAGCCAGAATCTGAGCCTC	0.587													G	55597230	A	G	55597230	2	3	68	1	0	0	0	0	0	0	0	1	5195	98	4	3		3	EPS8L1	19	55597230	Silent	SNP	A	TCGA-BR-8289-01A-11D-2340-08	2874272	55597230	3531753	204	48676											
ZNF71	58491	broad.mit.edu	37	chr19	57132977	57132977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtccacccgtaaggcgtGgcaagaacttctccagcact	9	15	1	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:57132977G>A	uc002qnm.3	+	3	560	c.322G>A	c.(322-324)GGC>AGC	p.G108S		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	108						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CGTAAGGCGTGGCAAGAACTT	0.582													A	57132977	G	A	57132977	3	1	68	1	0	0	0	0	1	0	0	0	18111	1348	47	4	324	4	ZNF71	19	57132977	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	1535747	57132977	1996006	205	48677											
PEG3	5178	broad.mit.edu	37	chr19	57333083	57333083	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccatttcaaagcttgttTtcgccaccacaggaagggaa	9	10	1	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:57333083T>G	uc002qnu.2	-	4	956	c.605A>C	c.(604-606)AAA>ACA	p.K202T	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.K77T|ZIM2_uc002qnq.2_Missense_Mutation_p.K77T|ZIM2_uc010etp.2_Missense_Mutation_p.K77T|ZIM2_uc010ygs.1_Missense_Mutation_p.K77T|PEG3_uc002qnt.2_Missense_Mutation_p.K203T|PEG3_uc002qnv.2_Missense_Mutation_p.K202T|PEG3_uc002qnw.2_Missense_Mutation_p.K77T|PEG3_uc002qnx.2_Missense_Mutation_p.K76T|PEG3_uc010etr.2_Missense_Mutation_p.K202T	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	202					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAAGCTTGTTTTCGCCACCAC	0.532													G	57333083	T	G	57333083	3	3	68	1	0	0	0	0	1	0	0	0	11720	1841	64	5	4180	5	PEG3	19	57333083	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	200106	57333083	1795900	206	48678											
C20orf12	55184	broad.mit.edu	37	chr20	18407803	18407803	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggcccggcaaattaccttctCcttaacaacaaaaaataaga	5	11	1	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr20:18407803C>A	uc010zsa.1	-	10	1128	c.919G>T	c.(919-921)GAG>TAG	p.E307*	C20orf12_uc002wqp.3_Nonsense_Mutation_p.E39*|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Nonsense_Mutation_p.E174*|C20orf12_uc002wqq.3_Nonsense_Mutation_p.E288*|C20orf12_uc002wqu.1_RNA|C20orf12_uc010gct.1_RNA	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	hypothetical protein LOC55184	115						intracellular	zinc ion binding			ovary(1)	1		Myeloproliferative disorder(85;0.0122)				ATTACCTTCTCCTTAACAACA	0.468													A	18407803	C	A	18407803	4	1	68	1	0	0	0	0	0	1	0	0	2085	869	30	5	1444	5	C20orf12	20	18407803	Nonsense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08		18407803	44617717	207	48679											
C20orf26	26074	broad.mit.edu	37	chr20	20232238	20232238	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggagcttctctctttgcaGccactgttttaatgataaag	8	9	2	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr20:20232238G>T	uc002wru.2	+	20	2236	c.2160_splice	c.e20-1	p.D720_splice	C20orf26_uc010zse.1_Splice_Site_p.D700_splice|C20orf26_uc002wrw.2_Splice_Site|C20orf26_uc002wrv.2_Splice_Site_p.D76_splice	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074											ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		TCTCTTTGCAGCCACTGTTTT	0.502													T	20232238	G	T	20232238	5	4	68	1	0	0	0	0	0	0	1	0	2106	985	34	5	2265	5	C20orf26	20	20232238	Splice_Site	SNP	G	TCGA-BR-8289-01A-11D-2340-08	1824435	20232238	42793282	208	48680											
HCK	3055	broad.mit.edu	37	chr20	30671801	30671801	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcttctacatatcccccCgaagcaccttcagcactctg	8	16	3	0	rs144393224		TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr20:30671801C>T	uc002wxh.2	+	7	808	c.637C>T	c.(637-639)CGA>TGA	p.R213*	HCK_uc010gdy.2_Nonsense_Mutation_p.R192*|HCK_uc002wxi.2_Nonsense_Mutation_p.R191*	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	213	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CATATCCCCCCGAAGCACCTT	0.587													T	30671801	C	T	30671801	4	4	68	1	0	0	0	0	0	1	0	0	6994	644	23	1	669	1	HCK	20	30671801	Nonsense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	10439563	30671801	32353719	209	48681											
FAM83D	81610	broad.mit.edu	37	chr20	37580424	37580424	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctggctaggctgtcaagtaCtcccaggaaggcggacctgg	15	11	1	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr20:37580424C>G	uc002xjg.2	+	4	1150	c.1109C>G	c.(1108-1110)ACT>AGT	p.T370S		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	hypothetical protein LOC81610	340					cell division|mitosis	cytoplasm|spindle pole				ovary(3)	3		Myeloproliferative disorder(115;0.00878)				CTGTCAAGTACTCCCAGGAAG	0.582													G	37580424	C	G	37580424	3	3	68	1	0	0	0	0	1	0	0	0	5636	565	20	5	1123	5	FAM83D	20	37580424	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	6908623	37580424	25445096	210	48682											
ZNF335	63925	broad.mit.edu	37	chr20	44587884	44587884	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtggtccaggggccgcacTgtgctgctgcttcagctcct	14	13	1	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr20:44587884T>G	uc002xqw.2	-	15	2332	c.2209A>C	c.(2209-2211)AGT>CGT	p.S737R	ZNF335_uc010zxk.1_Missense_Mutation_p.S582R	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	737					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				GGGGCCGCACTGTGCTGCTGC	0.662													G	44587884	T	G	44587884	3	3	68	1	0	0	0	0	1	0	0	0	17849	1580	55	5	1875	5	ZNF335	20	44587884	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	7007460	44587884	18437636	211	48683											
TPTE	7179	broad.mit.edu	37	chr21	10944719	10944719	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaatgtaaacgacatcaAccagcagaagaatcacaata	5	8	2	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr21:10944719A>C	uc002yip.1	-	11	883	c.515T>G	c.(514-516)GTT>GGT	p.V172G	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.V154G|TPTE_uc002yir.1_Missense_Mutation_p.V134G|TPTE_uc010gkv.1_Missense_Mutation_p.V34G	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	172	Helical; (Potential).				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AACGACATCAACCAGCAGAAG	0.284													C	10944719	A	C	10944719	3	2	68	1	0	0	0	0	1	0	0	0	16427	43	2	5	1196	5	TPTE	21	10944719	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08		10944719	37185176	212	48684											
KRTAP13-2	337959	broad.mit.edu	37	chr21	31744089	31744089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaagccaagtaggttgggCggcagaatccagatccatag	13	8	0	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr21:31744089C>T	uc002ynz.3	-	1	469	c.443G>A	c.(442-444)CGC>CAC	p.R148H		NM_181621	NP_853652	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	148						intermediate filament					0						GTAGGTTGGGCGGCAGAATCC	0.532													T	31744089	C	T	31744089	3	4	68	1	0	0	0	0	1	0	0	0	8523	768	27	1	88	1	KRTAP13-2	21	31744089	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	20799370	31744089	16385806	213	48685											
PCNT	5116	broad.mit.edu	37	chr21	47776997	47776997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagcacaaggtgcaactttCgcttcttcagactgagctca	9	11	3	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr21:47776997C>T	uc002zji.3	+	13	2152	c.2045C>T	c.(2044-2046)TCG>TTG	p.S682L	PCNT_uc002zjj.2_Missense_Mutation_p.S564L	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	682	Glu-rich.|Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GTGCAACTTTCGCTTCTTCAG	0.488													T	47776997	C	T	47776997	3	4	68	1	0	0	0	0	1	0	0	0	11590	893	31	1	2095	1	PCNT	21	47776997	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	16032908	47776997	352898	214	48686											
UPB1	51733	broad.mit.edu	37	chr22	24891382	24891382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccgtggccatggcgggcgCtgagtggaagtcgctggagg	20	9	0	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr22:24891382C>T	uc003aaf.2	+	1	132	c.11C>T	c.(10-12)GCT>GTT	p.A4V	UPB1_uc003aae.2_5'UTR|UPB1_uc011ajt.1_Missense_Mutation_p.A4V|C22orf45_uc003aad.1_5'Flank	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	beta-ureidopropionase	4					pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			ovary(2)	2	Colorectal(2;0.0339)					ATGGCGGGCGCTGAGTGGAAG	0.662													T	24891382	C	T	24891382	3	4	68	1	0	0	0	0	1	0	0	0	16999	797	28	2	13	2	UPB1	22	24891382	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08		24891382	26413184	215	48687											
APOBEC3B	9582	broad.mit.edu	37	chr22	39387489	39387489	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctggggctgtgccggggaAgtgcgtgcgttccttcagga	17	10	1	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr22:39387489A>G	uc003awo.1	+	6	930	c.876A>G	c.(874-876)GAA>GAG	p.E292E	APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Silent_p.E267E|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	292					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(58;0.04)					GTGCCGGGGAAGTGCGTGCGT	0.577													G	39387489	A	G	39387489	2	3	68	1	0	0	0	0	0	0	0	1	790	69	3	3		3	APOBEC3B	22	39387489	Silent	SNP	A	TCGA-BR-8289-01A-11D-2340-08	14496107	39387489	11917077	216	48688											
ZNF645	158506	broad.mit.edu	37	chrX	22292332	22292332	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acgcggagtccacctccttcAaccctacatggtcgatcaca	7	16	2	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chrX:22292332A>C	uc004dai.1	+	1	1273	c.1224A>C	c.(1222-1224)TCA>TCC	p.S408S		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	408						intracellular	zinc ion binding			lung(1)|pancreas(1)	2						CACCTCCTTCAACCCTACATG	0.463													C	22292332	A	C	22292332	2	2	68	1	0	0	0	0	0	0	0	1	18058	117	5	5		5	ZNF645	23	22292332	Silent	SNP	A	TCGA-BR-8289-01A-11D-2340-08		22292332	132978228	217	48689											
DMD	1756	broad.mit.edu	37	chrX	32430014	32430014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgctctgttcaagcaacTtttgcctccttacagcctaa	7	12	2	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chrX:32430014T>C	uc004dda.1	-	30	4332	c.4088A>G	c.(4087-4089)AAG>AGG	p.K1363R	DMD_uc004dcw.2_Missense_Mutation_p.K19R|DMD_uc004dcx.2_Missense_Mutation_p.K22R|DMD_uc004dcz.2_Missense_Mutation_p.K1240R|DMD_uc004dcy.1_Missense_Mutation_p.K1359R|DMD_uc004ddb.1_Missense_Mutation_p.K1355R|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1363	Spectrin 9.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCAAGCAACTTTTGCCTCCT	0.393													C	32430014	T	C	32430014	3	2	68	1	0	0	0	0	1	0	0	0	4580	1609	56	3	7317	3	DMD	23	32430014	Missense_Mutation	SNP	T	TCGA-BR-8289-01A-11D-2340-08	10137682	32430014	122840546	218	48690											
AKAP4	8852	broad.mit.edu	37	chrX	49958929	49958929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggatgctctgtgatattcGccctctgtgtctcctacttt	9	11	3	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chrX:49958929G>A	uc004dow.1	-	5	559	c.435C>T	c.(433-435)GGC>GGT	p.G145G	AKAP4_uc004dov.1_Silent_p.G136G|AKAP4_uc010njp.1_5'UTR|AKAP4_uc004dou.1_Silent_p.G136G	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	145					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					TGTGATATTCGCCCTCTGTGT	0.448													A	49958929	G	A	49958929	2	1	68	1	0	0	0	0	0	0	0	1	453	1074	38	1		1	AKAP4	23	49958929	Silent	SNP	G	TCGA-BR-8289-01A-11D-2340-08	17528915	49958929	105311631	219	48691											
COX7B	1349	broad.mit.edu	37	chrX	77158163	77158163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcattcagcaaacaatgGcaaggcagagccaccagaaa	10	10	1	2			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chrX:77158163G>A	uc004ecu.1	+	2	154	c.64G>A	c.(64-66)GCA>ACA	p.A22T		NM_001866	NP_001857	P24311	COX7B_HUMAN	cytochrome c oxidase subunit VIIb precursor	22					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity				0						GCAAACAATGGCAAGGCAGAG	0.373													A	77158163	G	A	77158163	3	1	68	1	0	0	0	0	1	0	0	0	3782	1203	42	2	70	2	COX7B	23	77158163	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	27199234	77158163	78112397	220	48692											
NOX1	27035	broad.mit.edu	37	chrX	100106242	100106242	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttggtaatcacaaccttctGctgggagcggtaaaaccgga	11	10	2	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chrX:100106242G>T	uc004egj.2	-	8	1083	c.877C>A	c.(877-879)CAG>AAG	p.Q293K	NOX1_uc004egl.3_Missense_Mutation_p.Q293K|NOX1_uc010nne.2_Missense_Mutation_p.Q256K	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1 isoform long	293	FAD-binding FR-type.|Extracellular (Potential).				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			ovary(1)	1						ACAACCTTCTGCTGGGAGCGG	0.423													T	100106242	G	T	100106242	3	4	68	1	0	0	0	0	1	0	0	0	10556	1328	46	5	841	5	NOX1	23	100106242	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	22948079	100106242	55164318	221	48693											
GPRASP2	114928	broad.mit.edu	37	chrX	101971307	101971307	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aattcaaacctggtctttttCatggggttggcttccgatcc	9	10	3	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chrX:101971307C>T	uc004ejk.2	+	4	2844	c.1510C>T	c.(1510-1512)CAT>TAT	p.H504Y	GPRASP2_uc004ejl.2_Missense_Mutation_p.H504Y|GPRASP2_uc004ejm.2_Missense_Mutation_p.H504Y|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	504						cytoplasm	protein binding			ovary(1)	1						TGGTCTTTTTCATGGGGTTGG	0.517													T	101971307	C	T	101971307	3	4	68	1	0	0	0	0	1	0	0	0	6723	826	29	4	1512	4	GPRASP2	23	101971307	Missense_Mutation	SNP	C	TCGA-BR-8289-01A-11D-2340-08	1865065	101971307	53299253	222	48694											
NRK	203447	broad.mit.edu	37	chrX	105153261	105153261	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaacaacagcagaggcacaAccaggtgcctgaacaagagc	11	11	0	4			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chrX:105153261A>C	uc004emd.2	+	13	1931	c.1628A>C	c.(1627-1629)AAC>ACC	p.N543T	NRK_uc010npc.1_Missense_Mutation_p.N211T	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	543	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						CAGAGGCACAACCAGGTGCCT	0.572										HNSCC(51;0.14)			C	105153261	A	C	105153261	3	2	68	1	0	0	0	0	1	0	0	0	10655	43	2	5	1678	5	NRK	23	105153261	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	3181954	105153261	50117299	223	48695											
TMEM164	84187	broad.mit.edu	37	chrX	109247079	109247079	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagttttgcaggcaatggggGccccgactgtgctgccttcc	13	13	0	0			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chrX:109247079G>T	uc004eom.2	+	2	396	c.77G>T	c.(76-78)GGC>GTC	p.G26V	TMEM164_uc004eol.2_Intron|TMEM164_uc010npq.2_Missense_Mutation_p.G26V	NM_032227	NP_115603	Q5U3C3	TM164_HUMAN	transmembrane protein 164 isoform b	26						integral to membrane				large_intestine(1)|lung(1)|skin(1)	3						GGCAATGGGGGCCCCGACTGT	0.622													T	109247079	G	T	109247079	3	4	68	1	0	0	0	0	1	0	0	0	16076	1203	42	5	79	5	TMEM164	23	109247079	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	4093818	109247079	46023481	224	48696											
OCRL	4952	broad.mit.edu	37	chrX	128695194	128695194	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcacagaagccttcttctActttgaatctgtgaaggaac	9	9	3	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chrX:128695194A>C	uc004euq.2	+	10	1028	c.863A>C	c.(862-864)TAC>TCC	p.Y288S	OCRL_uc004eur.2_Missense_Mutation_p.Y288S	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	288					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			lung(2)|ovary(1)|kidney(1)	4						GCCTTCTTCTACTTTGAATCT	0.393													C	128695194	A	C	128695194	3	2	68	1	0	0	0	0	1	0	0	0	10823	391	14	5	901	5	OCRL	23	128695194	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	19448115	128695194	26575366	225	48697											
ARHGAP36	158763	broad.mit.edu	37	chrX	130217933	130217933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccgggagttcactcgccGtgggcgtcgagtgagttaaa	15	11	1	1			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chrX:130217933G>A	uc004evz.2	+	4	890	c.545G>A	c.(544-546)CGT>CAT	p.R182H	ARHGAP36_uc004ewa.2_Missense_Mutation_p.R170H|ARHGAP36_uc004ewb.2_Missense_Mutation_p.R151H|ARHGAP36_uc004ewc.2_Missense_Mutation_p.R46H	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	182	Arg-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3						TTCACTCGCCGTGGGCGTCGA	0.627													A	130217933	G	A	130217933	3	1	68	1	0	0	0	0	1	0	0	0	883	1145	40	1	555	1	ARHGAP36	23	130217933	Missense_Mutation	SNP	G	TCGA-BR-8289-01A-11D-2340-08	1522739	130217933	25052627	226	48698											
F8	2157	broad.mit.edu	37	chrX	154159499	154159499	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgatggagctgtggcctgaAgtgtgtcatttcagacaggc	15	7	2	3			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chrX:154159499A>C	uc004fmt.2	-	14	2737	c.2566T>G	c.(2566-2568)TTC>GTC	p.F856V		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	856	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGTGGCCTGAAGTGTGTCATT	0.443													C	154159499	A	C	154159499	3	2	68	1	0	0	0	0	1	0	0	0	5350	72	3	5	4569	5	F8	23	154159499	Missense_Mutation	SNP	A	TCGA-BR-8289-01A-11D-2340-08	23941566	154159499	1111061	227	48699											
FCRL3	115352	broad.mit.edu	37	chr1	157667132	157667132	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctggcctctgtggagagagCtgggtctcacaggtcagggt	16	9	4	1			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr1:157667132C>G	uc001frb.2	-	6	934	c.642G>C	c.(640-642)CAG>CAC	p.Q214H	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.Q214H|FCRL3_uc009wsn.2_Intron|FCRL3_uc009wso.2_Intron|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Missense_Mutation_p.Q214H	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	214	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					GTGGAGAGAGCTGGGTCTCAC	0.557													G	157667132	C	G	157667132	3	3	69	1	0	0	0	0	1	0	0	0	5796	796	28	5	1602	5	FCRL3	1	157667132	Missense_Mutation	SNP	C	TCGA-BR-8291-01A-11D-2340-08		157667132	91583489	1	48700											
MFSD4	148808	broad.mit.edu	37	chr1	205538403	205538403	+	Frame_Shift_Del	DEL	C	C	-													ctgcctcctgctgggcagcgCcctcgggggcgtcttcaaaa							TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr1:205538403delC	uc001hcv.3	+	1	292	c.206delC	c.(205-207)GCCfs	p.A69fs	MFSD4_uc010prk.1_Frame_Shift_Del_p.A69fs|MFSD4_uc010prl.1_RNA	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing	69	Helical; (Potential).				transmembrane transport	integral to membrane				skin(2)|central_nervous_system(1)	3	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CTGGGCAGCGCCCTCGGGGGC	0.488													-	205538403	C	-	205538403	7	5	69	1	0	1	0	1	0	0	0	0	9533	739	26	0	208	0	MFSD4	1	205538403	Frame_Shift_Del	DEL	C	TCGA-BR-8291-01A-11D-2340-08	47871271	205538403	43712218	2	48701											
C2orf49	79074	broad.mit.edu	37	chr2	105959525	105959525	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaatttgcctgtgaacaatAaaacggaacacaataataat	5	8	0	1			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr2:105959525A>G	uc002tcs.1	+	3	519	c.487A>G	c.(487-489)AAA>GAA	p.K163E	C2orf49_uc010fjd.1_Intron	NM_024093	NP_076998	Q9BVC5	ASHWN_HUMAN	ashwin	163						tRNA-splicing ligase complex					0						TGTGAACAATAAAACGGAACA	0.428													G	105959525	A	G	105959525	3	3	69	1	0	0	0	0	1	0	0	0	2171	363	13	3	497	3	C2orf49	2	105959525	Missense_Mutation	SNP	A	TCGA-BR-8291-01A-11D-2340-08		105959525	137239848	3	48702											
MBD5	55777	broad.mit.edu	37	chr2	149243323	149243323	+	Frame_Shift_Del	DEL	C	C	-													aactgtaggtgatatgtcatCaataaacaatactttgagta							TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr2:149243323delC	uc002twm.3	+	11	3846	c.2858delC	c.(2857-2859)TCAfs	p.S953fs	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Frame_Shift_Del_p.S953fs|MBD5_uc002two.2_Frame_Shift_Del_p.S211fs|MBD5_uc002twp.2_Frame_Shift_Del_p.S3fs	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	953						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GATATGTCATCAATAAACAAT	0.363													-	149243323	C	-	149243323	7	5	69	1	0	1	0	1	0	0	0	0	9347	838	29	0	2880	0	MBD5	2	149243323	Frame_Shift_Del	DEL	C	TCGA-BR-8291-01A-11D-2340-08	43283798	149243323	93956050	4	48703											
SPEG	10290	broad.mit.edu	37	chr2	220331910	220331910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcagcacaccctgaaagcCggtccctggccgtgctggcc	11	18	1	1			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr2:220331910C>T	uc010fwg.2	+	10	2896	c.2896C>T	c.(2896-2898)CGG>TGG	p.R966W		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	966	Ig-like 4.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCTGAAAGCCGGTCCCTGGC	0.672											OREG0004000	type=REGULATORY REGION|Gene=APEG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	220331910	C	T	220331910	3	4	69	1	0	0	0	0	1	0	0	0	15035	643	23	1	2946	1	SPEG	2	220331910	Missense_Mutation	SNP	C	TCGA-BR-8291-01A-11D-2340-08	71088587	220331910	22867463	5	48704											
AKAP12	9590	broad.mit.edu	37	chr6	151671966	151671966	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagaagtttattcctggaCgaaggaagaaaaggccagat	11	6	1	3			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr6:151671966C>T	uc011eep.1	+	4	2680	c.2440C>T	c.(2440-2442)CGA>TGA	p.R814*	AKAP12_uc003qoe.2_Nonsense_Mutation_p.R814*|AKAP12_uc003qof.2_Nonsense_Mutation_p.R716*|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Nonsense_Mutation_p.R709*	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	814	AKAP 3.				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TATTCCTGGACGAAGGAAGAA	0.517													T	151671966	C	T	151671966	4	4	69	1	0	0	0	0	0	1	0	0	448	528	19	1	2479	1	AKAP12	6	151671966	Nonsense_Mutation	SNP	C	TCGA-BR-8291-01A-11D-2340-08		151671966	19443101	6	48705											
ABCB4	5244	broad.mit.edu	37	chr7	87031414	87031414	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatactgtagcaaaagttcAtaagttctgtgtcccagcct	7	9	2	0			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr7:87031414A>G	uc003uiv.1	-	28	3935	c.3859T>C	c.(3859-3861)TGA>CGA	p.*1287R	ABCB4_uc003uiw.1_Nonstop_Mutation_p.*1280R|ABCB4_uc003uix.1_Nonstop_Mutation_p.*1233R	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	1287					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GCAAAAGTTCATAAGTTCTGT	0.368													G	87031414	A	G	87031414	4	3	69	1	0	0	0	0	0	0	0	0	43	230	8	3	5	3	ABCB4	7	87031414	Nonstop_Mutation	SNP	A	TCGA-BR-8291-01A-11D-2340-08		87031414	72107249	7	48706											
ZNF804B	219578	broad.mit.edu	37	chr7	88966144	88966144	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacccatctcacataacacTtcagcctctgccccctacag	3	20	3	0			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr7:88966144T>G	uc011khi.1	+	4	4386	c.3848T>G	c.(3847-3849)CTT>CGT	p.L1283R		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1283						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CACATAACACTTCAGCCTCTG	0.468										HNSCC(36;0.09)			G	88966144	T	G	88966144	3	3	69	1	0	0	0	0	1	0	0	0	18168	1609	56	5	3862	5	ZNF804B	7	88966144	Missense_Mutation	SNP	T	TCGA-BR-8291-01A-11D-2340-08	1934730	88966144	70172519	8	48707											
CNTFR	1271	broad.mit.edu	37	chr9	34568927	34568929	+	In_Frame_Del	DEL	GCG	GCG	-													gtctctgggcgtagacaactGcggcggcggcggcaagcaca							TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr9:34568927_34568929delGCG	uc003zup.1	-	3	332_334	c.51_53delCGC	c.(49-54)GCCGCA>GCA	p.17_18AA>A	CNTFR_uc003zuq.1_In_Frame_Del_p.17_18AA>A|LOC415056_uc003zut.2_Intron|LOC415056_uc003zur.2_Intron|LOC415056_uc003zus.2_Intron	NM_147164	NP_671693	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	17_18					nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			ovary(3)|central_nervous_system(1)|skin(1)	5	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		GTAGACAACTGCGGCGGCGGCGG	0.665													-	34568929	GCG	-	34568927	7	5	69	1	0	1	0	1	0	0	0	0	3638	1319	46	0	1097	0	CNTFR	9	34568927	In_Frame_Del	DEL	GCG	TCGA-BR-8291-01A-11D-2340-08		34568927	106644504	9	48708											
OR51B5	282763	broad.mit.edu	37	chr11	5364208	5364208	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcagcacaggcgagtttaaTgacatcctggtgaaggcaga	12	8	1	3			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr11:5364208T>A	uc001map.1	-	1	547	c.547A>T	c.(547-549)ATT>TTT	p.I183F	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Missense_Mutation_p.I183F	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	183	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCGAGTTTAATGACATCCTGG	0.438													A	5364208	T	A	5364208	3	1	69	1	0	0	0	0	1	0	0	0	11091	1464	51	5	395	5	OR51B5	11	5364208	Missense_Mutation	SNP	T	TCGA-BR-8291-01A-11D-2340-08		5364208	129642308	10	48709											
OPCML	4978	broad.mit.edu	37	chr11	132290138	132290138	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccctgatagccagagacaAgccagtgctctggaggccga	13	12	1	2			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr11:132290138A>G	uc001qgs.2	-	7	1037	c.987T>C	c.(985-987)GCT>GCC	p.A329A	OPCML_uc001qgu.2_Silent_p.A322A|OPCML_uc010sck.1_Silent_p.A338A|OPCML_uc001qgt.2_Silent_p.A328A|OPCML_uc010scl.1_Silent_p.A288A	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	329					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GCCAGAGACAAGCCAGTGCTC	0.512													G	132290138	A	G	132290138	2	3	69	1	0	0	0	0	0	0	0	1	10874	59	3	3		3	OPCML	11	132290138	Silent	SNP	A	TCGA-BR-8291-01A-11D-2340-08	126925930	132290138	2716378	11	48710											
SOX5	6660	broad.mit.edu	37	chr12	23893843	23893843	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctccatttgctgacgctgTttctcaatctgagaggcagc	10	11	2	2			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr12:23893843T>G	uc001rfw.2	-	5	801	c.699A>C	c.(697-699)AAA>AAC	p.K233N	SOX5_uc001rfx.2_Missense_Mutation_p.K220N|SOX5_uc001rfy.2_Missense_Mutation_p.K220N|SOX5_uc010siv.1_Missense_Mutation_p.K220N|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.K185N	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	233	Potential.				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						GCTGACGCTGTTTCTCAATCT	0.498													G	23893843	T	G	23893843	3	3	69	1	0	0	0	0	1	0	0	0	14954	1722	60	5	1646	5	SOX5	12	23893843	Missense_Mutation	SNP	T	TCGA-BR-8291-01A-11D-2340-08		23893843	109958052	12	48711											
WNT10B	7480	broad.mit.edu	37	chr12	49361823	49361823	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aatcccgagagaacttctctCcaaagtccatgtcatggtta	7	11	2	1			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr12:49361823C>G	uc001rss.2	-	4	963	c.617G>C	c.(616-618)GGA>GCA	p.G206A	WNT10B_uc001rst.2_Intron	NM_003394	NP_003385	O00744	WN10B_HUMAN	wingless-type MMTV integration site family,	206					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			skin(4)|lung(3)	7						GAACTTCTCTCCAAAGTCCAT	0.453													G	49361823	C	G	49361823	3	3	69	1	0	0	0	0	1	0	0	0	17380	855	30	5	560	5	WNT10B	12	49361823	Missense_Mutation	SNP	C	TCGA-BR-8291-01A-11D-2340-08	25467980	49361823	84490072	13	48712											
PTGES3	10728	broad.mit.edu	37	chr12	57066579	57066579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaatgcttaaaattatcaCttcctccgagacaactgtat	4	9	1	1			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr12:57066579C>T	uc001slu.3	-	3	426	c.131G>A	c.(130-132)AGT>AAT	p.S44N	PTGES3_uc001slw.3_RNA|PTGES3_uc010sqs.1_Missense_Mutation_p.S44N|PTGES3_uc001slv.3_Missense_Mutation_p.S44N|PTGES3_uc010sqt.1_Missense_Mutation_p.S44N|PTGES3_uc009zox.2_Intron	NM_006601	NP_006592	Q15185	TEBP_HUMAN	prostaglandin-E synthase 3	44	CS.				chaperone cofactor-dependent protein refolding|hormone biosynthetic process|prostaglandin biosynthetic process|signal transduction|telomere maintenance	cytosol|telomerase holoenzyme complex	prostaglandin-E synthase activity|telomerase activity|unfolded protein binding				0						AAAATTATCACTTCCTCCGAG	0.279													T	57066579	C	T	57066579	3	4	69	1	0	0	0	0	1	0	0	0	12748	565	20	4	375	4	PTGES3	12	57066579	Missense_Mutation	SNP	C	TCGA-BR-8291-01A-11D-2340-08	7704756	57066579	76785316	14	48713											
PTPRB	5787	broad.mit.edu	37	chr12	70918346	70918346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgaggacatctcttacaCactgatgtaggtagacatac	8	10	2	3			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr12:70918346C>T	uc001swb.3	-	31	5906	c.5876G>A	c.(5875-5877)TGT>TAT	p.C1959Y	uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.C1869Y|PTPRB_uc010stp.1_Missense_Mutation_p.C1869Y|PTPRB_uc001swc.3_Missense_Mutation_p.C2177Y|PTPRB_uc001swa.3_Missense_Mutation_p.C2089Y	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1959	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATCTCTTACACACTGATGTAG	0.428													T	70918346	C	T	70918346	3	4	69	1	0	0	0	0	1	0	0	0	12796	478	17	4	125	4	PTPRB	12	70918346	Missense_Mutation	SNP	C	TCGA-BR-8291-01A-11D-2340-08	13851767	70918346	62933549	15	48714											
UTP20	27340	broad.mit.edu	37	chr12	101679619	101679619	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcagagtttgaagactcacCtgcaagttaagaacagtttt	8	7	2	4			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr12:101679619C>G	uc001tia.1	+	4	442	c.286C>G	c.(286-288)CTG>GTG	p.L96V	UTP20_uc009ztz.1_Missense_Mutation_p.L96V	NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	96					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						GAAGACTCACCTGCAAGTTAA	0.363													G	101679619	C	G	101679619	3	3	69	1	0	0	0	0	1	0	0	0	17096	680	24	5	300	5	UTP20	12	101679619	Missense_Mutation	SNP	C	TCGA-BR-8291-01A-11D-2340-08	30761273	101679619	32172276	16	48715											
PAH	5053	broad.mit.edu	37	chr12	103249044	103249044	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttatacaaggacttcagagtCttgaacactgtgccccatgt	8	10	2	2			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr12:103249044C>A	uc001tjq.1	-	7	1048	c.576G>T	c.(574-576)AAG>AAT	p.K192N	PAH_uc010swc.1_Missense_Mutation_p.K192N	NM_000277	NP_000268	P00439	PH4H_HUMAN	phenylalanine hydroxylase	192					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	ACTTCAGAGTCTTGAACACTG	0.433													A	103249044	C	A	103249044	3	1	69	1	0	0	0	0	1	0	0	0	11394	912	32	5	814	5	PAH	12	103249044	Missense_Mutation	SNP	C	TCGA-BR-8291-01A-11D-2340-08	1569425	103249044	30602851	17	48716											
ATP11A	23250	broad.mit.edu	37	chr13	113460568	113460568	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtccagtgacaagcggactTccactcttctttgtcattac	7	12	3	1			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr13:113460568T>C	uc001vsi.3	+	4	382	c.294T>C	c.(292-294)CTT>CTC	p.L98L	ATP11A_uc001vsj.3_Silent_p.L98L|ATP11A_uc001vsm.1_5'UTR	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	98	Helical; (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CAAGCGGACTTCCACTCTTCT	0.393													C	113460568	T	C	113460568	2	2	69	1	0	0	0	0	0	0	0	1	1119	1770	62	3		3	ATP11A	13	113460568	Silent	SNP	T	TCGA-BR-8291-01A-11D-2340-08		113460568	1709310	18	48717											
TRIM69	140691	broad.mit.edu	37	chr15	45047126	45047126	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacccctcctccaacatcgAtccaggcgactatgttgaaa	6	15	0	1			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr15:45047126A>G	uc001zuf.2	+	3	930	c.35A>G	c.(34-36)GAT>GGT	p.D12G	TRIM69_uc001zui.1_Intron|TRIM69_uc010bdy.1_Intron|TRIM69_uc001zug.1_Missense_Mutation_p.D12G|TRIM69_uc001zuh.1_Intron	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	tripartite motif-containing 69 isoform a	12	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding				0		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TCCAACATCGATCCAGGCGAC	0.433													G	45047126	A	G	45047126	3	3	69	1	0	0	0	0	1	0	0	0	16539	333	12	3	41	3	TRIM69	15	45047126	Missense_Mutation	SNP	A	TCGA-BR-8291-01A-11D-2340-08		45047126	57484266	19	48718											
HCN4	10021	broad.mit.edu	37	chr15	73615350	73615351	+	Frame_Shift_Ins	INS	-	-	G													gggggcctgggctgtggccaINSggggggctgagacctcctcg							TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr15:73615350_73615351insG	uc002avp.2	-	8	4077_4078	c.3083_3084insC	c.(3082-3084)CCTfs	p.P1028fs		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	1028	Pro-rich.|Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		GGCTGTGGCCAGGGGGGCTGAG	0.718													G	73615351	-	G	73615350	7	5	69	1	0	1	1	0	0	0	0	0	6999	175	7	0	531	0	HCN4	15	73615350	Frame_Shift_Ins	INS	-	TCGA-BR-8291-01A-11D-2340-08	28568224	73615350	28916042	20	48719											
SPACA3	124912	broad.mit.edu	37	chr17	31323950	31323950	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaacgggatcttccagAtcaacagccggaggtggtgc	12	12	2	1			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr17:31323950A>C	uc002hhs.1	+	3	508	c.433A>C	c.(433-435)ATC>CTC	p.I145L	SPACA3_uc010cte.1_RNA	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	145	Extracellular (Potential).				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.193)			GATCTTCCAGATCAACAGCCG	0.602													C	31323950	A	C	31323950	3	2	69	1	0	0	0	0	1	0	0	0	14973	333	12	5	443	5	SPACA3	17	31323950	Missense_Mutation	SNP	A	TCGA-BR-8291-01A-11D-2340-08		31323950	49871260	21	48720											
RSAD1	55316	broad.mit.edu	37	chr17	48562190	48562190	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccaagaagcctggcagCagagaaccccctcccctgtg	10	16	0	2			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr17:48562190C>T	uc002iqw.1	+	9	1353	c.1297C>T	c.(1297-1299)CAG>TAG	p.Q433*	RSAD1_uc010wmq.1_RNA	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing	433					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGCCTGGCAGCAGAGAACCCC	0.572													T	48562190	C	T	48562190	4	4	69	1	0	0	0	0	0	1	0	0	13694	711	25	2	1331	2	RSAD1	17	48562190	Nonsense_Mutation	SNP	C	TCGA-BR-8291-01A-11D-2340-08	17238240	48562190	32633020	22	48721											
ABCA9	10350	broad.mit.edu	37	chr17	66980283	66980283	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggtcaggagggcgcccctCtccgtgtttctaaaggtggc	15	11	3	0			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr17:66980283C>T	uc002jhu.2	-	35	4556	c.4413G>A	c.(4411-4413)GAG>GAA	p.E1471E	ABCA9_uc010dez.2_Silent_p.E1433E	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1471	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					GGGCGCCCCTCTCCGTGTTTC	0.522													T	66980283	C	T	66980283	2	4	69	1	0	0	0	0	0	0	0	1	39	912	32	4		4	ABCA9	17	66980283	Silent	SNP	C	TCGA-BR-8291-01A-11D-2340-08	18418093	66980283	14214927	23	48722											
TSSK6	83983	broad.mit.edu	37	chr19	19625817	19625817	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtccgggctcagcagcacGttttcgcacttgaggtcgcg	13	13	1	1			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr19:19625817G>A	uc002nmr.2	-	1	653	c.420C>T	c.(418-420)AAC>AAT	p.N140N	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	140	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1						TCAGCAGCACGTTTTCGCACT	0.672													A	19625817	G	A	19625817	2	1	69	1	0	0	0	0	0	0	0	1	16669	1136	40	1		1	TSSK6	19	19625817	Silent	SNP	G	TCGA-BR-8291-01A-11D-2340-08		19625817	39503166	24	48723											
ZNF461	92283	broad.mit.edu	37	chr19	37130886	37130886	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttaacccactgggataattCtgtttcataaatatcccttt	5	9	2	0			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr19:37130886C>A	uc002oem.2	-	6	589	c.361G>T	c.(361-363)GAA>TAA	p.E121*	ZNF461_uc002oen.2_Nonsense_Mutation_p.E90*|ZNF461_uc010xtj.1_Nonsense_Mutation_p.E98*	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	gonadotropin inducible transcription repressor	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGGGATAATTCTGTTTCATAA	0.378													A	37130886	C	A	37130886	4	1	69	1	0	0	0	0	0	1	0	0	17922	922	32	5	1334	5	ZNF461	19	37130886	Nonsense_Mutation	SNP	C	TCGA-BR-8291-01A-11D-2340-08	17505069	37130886	21998097	25	48724											
RYR1	6261	broad.mit.edu	37	chr19	38966037	38966037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccccgactccctcacgacGtggtgcctgcagacaaccgc	10	18	1	1			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr19:38966037G>A	uc002oit.2	+	29	4370	c.4240G>A	c.(4240-4242)GTG>ATG	p.V1414M	RYR1_uc002oiu.2_Missense_Mutation_p.V1414M	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1414	Cytoplasmic.|B30.2/SPRY 3.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCTCACGACGTGGTGCCTGC	0.612													A	38966037	G	A	38966037	3	1	69	1	0	0	0	0	1	0	0	0	13768	1145	40	1	4354	1	RYR1	19	38966037	Missense_Mutation	SNP	G	TCGA-BR-8291-01A-11D-2340-08	1835151	38966037	20162946	26	48725											
NLRP2	55655	broad.mit.edu	37	chr19	55489171	55489171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggacgaaatgctggagcGcttcaaaacagaagcacaag	12	9	1	1			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr19:55489171G>A	uc002qij.2	+	4	463	c.377G>A	c.(376-378)CGC>CAC	p.R126H	NLRP2_uc010yfp.1_Missense_Mutation_p.R103H|NLRP2_uc010esn.2_Intron|NLRP2_uc010eso.2_Missense_Mutation_p.R126H|NLRP2_uc010esp.2_Missense_Mutation_p.R126H	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	126					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ATGCTGGAGCGCTTCAAAACA	0.537													A	55489171	G	A	55489171	3	1	69	1	0	0	0	0	1	0	0	0	10477	1087	38	1	387	1	NLRP2	19	55489171	Missense_Mutation	SNP	G	TCGA-BR-8291-01A-11D-2340-08	16523134	55489171	3639812	27	48726											
SLMO2	51012	broad.mit.edu	37	chr20	57613669	57613669	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttctgcattgcagctgttGtaacagtttcccacgggtgg	11	9	1	0			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr20:57613669G>T	uc002yam.2	-	2	169	c.53C>A	c.(52-54)ACA>AAA	p.T18K	SLMO2_uc010zzv.1_Missense_Mutation_p.T18K	NM_016045	NP_057129	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2	18	PRELI/MSF1.									skin(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)			TGCAGCTGTTGTAACAGTTTC	0.373													T	57613669	G	T	57613669	3	4	69	1	0	0	0	0	1	0	0	0	14751	1377	48	5	551	5	SLMO2	20	57613669	Missense_Mutation	SNP	G	TCGA-BR-8291-01A-11D-2340-08		57613669	5411851	28	48727											
ZBTB46	140685	broad.mit.edu	37	chr20	62407312	62407312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcggtgacggacaggtccGcatctggggacagagggaca	16	10	1	2			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr20:62407312G>A	uc002ygv.1	-	3	1142	c.941C>T	c.(940-942)GCG>GTG	p.A314V	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GGACAGGTCCGCATCTGGGGA	0.617													A	62407312	G	A	62407312	3	1	69	1	0	0	0	0	1	0	0	0	17544	1087	38	1	840	1	ZBTB46	20	62407312	Missense_Mutation	SNP	G	TCGA-BR-8291-01A-11D-2340-08	4793643	62407312	618208	29	48728											
ATP7A	538	broad.mit.edu	37	chrX	77298826	77298826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcttagaatgatcttctGgatgtagtggcaagtattga	11	4	3	3			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chrX:77298826G>A	uc004ecx.3	+	21	4177	c.4017G>A	c.(4015-4017)CTG>CTA	p.L1339L		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1339	Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						ATGATCTTCTGGATGTAGTGG	0.328													A	77298826	G	A	77298826	2	1	69	1	0	0	0	0	0	0	0	1	1190	1335	47	4		4	ATP7A	23	77298826	Silent	SNP	G	TCGA-BR-8291-01A-11D-2340-08		77298826	77971734	30	48729											
MCOLN2	255231	broad.mit.edu	37	chr1	85424250	85424250	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gatgctctcataggcatcctCttgagtatatacactgcagc	8	11	2	1			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr1:85424250C>G	uc001dkm.2	-	3	614	c.373G>C	c.(373-375)GAG>CAG	p.E125Q	MCOLN2_uc001dkn.2_RNA	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	mucolipin 2	125						integral to membrane	ion channel activity			ovary(3)|upper_aerodigestive_tract(1)	4				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TAGGCATCCTCTTGAGTATAT	0.353													G	85424250	C	G	85424250	3	3	70	1	0	0	0	0	1	0	0	0	9396	922	32	5	1375	5	MCOLN2	1	85424250	Missense_Mutation	SNP	C	TCGA-BR-8295-01A-11D-2340-08		85424250	163826371	1	48730											
POLR3C	10623	broad.mit.edu	37	chr1	145608112	145608112	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggttaaaattccttacctatCaagctgagtttaggaaccag	8	8	1	1			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr1:145608112C>G	uc001eoh.2	-	4	746	c.585G>C	c.(583-585)TTG>TTC	p.L195F	NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Missense_Mutation_p.L208F|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Missense_Mutation_p.L195F	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	195					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			CCTTACCTATCAAGCTGAGTT	0.413													G	145608112	C	G	145608112	3	3	70	1	0	0	0	0	1	0	0	0	12230	825	29	5	1067	5	POLR3C	1	145608112	Missense_Mutation	SNP	C	TCGA-BR-8295-01A-11D-2340-08	60183862	145608112	103642509	2	48731											
F11R	50848	broad.mit.edu	37	chr1	160970514	160970514	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccagtgtcttcccgtgtcaCggacttgaaggtgataccag	11	12	2	2			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr1:160970514C>G	uc009wtt.2	-	4	565	c.295G>C	c.(295-297)GTG>CTG	p.V99L	F11R_uc010pjv.1_Intron|F11R_uc001fxe.3_Missense_Mutation_p.V99L|F11R_uc009wtu.2_Missense_Mutation_p.V99L|F11R_uc010pjw.1_Missense_Mutation_p.V103L|F11R_uc001fxf.3_Missense_Mutation_p.V99L	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	F11 receptor precursor	99	Extracellular (Potential).|Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				ovary(2)	2	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TCCCGTGTCACGGACTTGAAG	0.537													G	160970514	C	G	160970514	3	3	70	1	0	0	0	0	1	0	0	0	5338	536	19	5	632	5	F11R	1	160970514	Missense_Mutation	SNP	C	TCGA-BR-8295-01A-11D-2340-08	15362402	160970514	88280107	3	48732											
LHX9	56956	broad.mit.edu	37	chr1	197898303	197898303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagacctgaccaatcccactAtcactgtagtgacatccgtg	7	14	1	3			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr1:197898303A>G	uc001guk.1	+	5	1545	c.1108A>G	c.(1108-1110)ATC>GTC	p.I370V	LHX9_uc001gui.1_Missense_Mutation_p.I361V|LHX9_uc001guj.1_Intron	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	370					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CAATCCCACTATCACTGTAGT	0.532													G	197898303	A	G	197898303	3	3	70	1	0	0	0	0	1	0	0	0	8777	449	16	3	1158	3	LHX9	1	197898303	Missense_Mutation	SNP	A	TCGA-BR-8295-01A-11D-2340-08	36927789	197898303	51352318	4	48733											
OBSCN	84033	broad.mit.edu	37	chr1	228430943	228430944	+	Frame_Shift_Ins	INS	-	-	G													tgaggtgcaggctgaggcagINSgggccagtgccacgctgagc							TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr1:228430942_228430943A>AG	uc009xez.1	+	9	3032_3033	c.2988_2989A>AG	c.(2986-2991)gcagggfs	p.A996fs	OBSCN_uc001hsn.3_Frame_Shift_Ins_p.A996fs	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	996	Ig-like 10.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGCTGAGGCAGGGGCCAGTGC	0.589													G	228430944	-	G	228430943	7	5	70	1	0	1	1	0	0	0	0	0	10812	1000	35	0	3023	0	OBSCN	1	228430943	Frame_Shift_Ins	INS	-	TCGA-BR-8295-01A-11D-2340-08	30532640	228430943	20819678	5	48734											
OR2W5	441932	broad.mit.edu	37	chr1	247654603	247654603	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcaggctccacacaccCatgtacttctttcttgggaa	8	12	3	0			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr1:247654603C>A	uc001icz.1	+	1	174	c.174C>A	c.(172-174)CCC>CCA	p.P58P		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	58	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCCACACACCCATGTACTTCT	0.498													A	247654603	C	A	247654603	2	1	70	1	0	0	0	0	0	0	0	1	11034	581	21	5		5	OR2W5	1	247654603	Silent	SNP	C	TCGA-BR-8295-01A-11D-2340-08	19223660	247654603	1596018	6	48735											
OR2L13	284521	broad.mit.edu	37	chr1	248262671	248262671	+	Translation_Start_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttcaacagttacagcagaaAgttttcatggagaaatggaa	9	5	2	2			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr1:248262671A>T	uc001ids.2	+	3	331	c.-6A>T	c.(-8--4)AAAGT>AATGT			NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TACAGCAGAAAGTTTTCATGG	0.259													T	248262671	A	T	248262671	1	4	70	1	0	0	0	0	0	0	0	0	11006	87	3	5		5	OR2L13	1	248262671	Translation_Start_Site	SNP	A	TCGA-BR-8295-01A-11D-2340-08	608068	248262671	987950	7	48736											
RAD51AP2	729475	broad.mit.edu	37	chr2	17699573	17699573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctccaggctcctcaagaCagagccgcttgctactaggt	9	15	1	2			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr2:17699573C>T	uc002rcl.1	-	1	134	c.110G>A	c.(109-111)TGT>TAT	p.C37Y	RAD51AP2_uc010exn.1_Missense_Mutation_p.C28Y	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	37										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTCCTCAAGACAGAGCCGCTT	0.612													T	17699573	C	T	17699573	3	4	70	1	0	0	0	0	1	0	0	0	12987	478	17	4	3381	4	RAD51AP2	2	17699573	Missense_Mutation	SNP	C	TCGA-BR-8295-01A-11D-2340-08		17699573	225499800	8	48737											
DGUOK	1716	broad.mit.edu	37	chr2	74173903	74173903	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgtaccgggagccagcaCgatggtcctacacattccag	11	12	0	1	rs104893630		TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr2:74173903C>T	uc002sjx.2	+	3	398	c.313C>T	c.(313-315)CGA>TGA	p.R105*	DGUOK_uc002sjy.2_Nonsense_Mutation_p.R105*|DGUOK_uc002sjz.2_RNA	NM_080916	NP_550438	Q16854	DGUOK_HUMAN	deoxyguanosine kinase isoform a precursor	105					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor				0						GGAGCCAGCACGATGGTCCTA	0.478													T	74173903	C	T	74173903	4	4	70	1	0	0	0	0	0	1	0	0	4475	528	19	1	323	1	DGUOK	2	74173903	Nonsense_Mutation	SNP	C	TCGA-BR-8295-01A-11D-2340-08	56474330	74173903	169025470	9	48738											
ZAP70	7535	broad.mit.edu	37	chr2	98351812	98351812	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatcatgcaccagctggaCaacccctacatcgtgcggct	9	15	1	1			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr2:98351812C>T	uc002syd.1	+	10	1389	c.1182C>T	c.(1180-1182)GAC>GAT	p.D394D	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Silent_p.D284D|ZAP70_uc002syf.1_Silent_p.D87D	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	394	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						ACCAGCTGGACAACCCCTACA	0.632													T	98351812	C	T	98351812	2	4	70	1	0	0	0	0	0	0	0	1	17511	477	17	4		4	ZAP70	2	98351812	Silent	SNP	C	TCGA-BR-8295-01A-11D-2340-08	24177909	98351812	144847561	10	48739											
OBFC2A	64859	broad.mit.edu	37	chr2	192543750	192543750	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	accaaagacggccatgaagtGagatcgtgcaaagtagcaga	12	8	0	4			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr2:192543750G>C	uc002usx.2	+	2	606	c.126G>C	c.(124-126)GTG>GTC	p.V42V	OBFC2A_uc002usw.2_5'UTR|OBFC2A_uc002usy.2_RNA|OBFC2A_uc002usz.2_RNA|OBFC2A_uc002uta.2_5'UTR	NM_001031716	NP_001026886	Q96AH0	SOSB2_HUMAN	oligonucleotide/oligosaccharide-binding fold	42	OB.				double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	single-stranded DNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.061)|Epithelial(96;0.244)			GCCATGAAGTGAGATCGTGCA	0.463													C	192543750	G	C	192543750	2	2	70	1	0	0	0	0	0	0	0	1	10808	1277	45	5		5	OBFC2A	2	192543750	Silent	SNP	G	TCGA-BR-8295-01A-11D-2340-08	94191938	192543750	50655623	11	48740											
ERBB4	2066	broad.mit.edu	37	chr2	212566719	212566719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcttttctgttgtcccGgattactattctctggttga	8	9	3	1			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr2:212566719G>A	uc002veg.1	-	12	1560	c.1462C>T	c.(1462-1464)CGG>TGG	p.R488W	ERBB4_uc002veh.1_Missense_Mutation_p.R488W|ERBB4_uc010zji.1_Missense_Mutation_p.R488W|ERBB4_uc010zjj.1_Missense_Mutation_p.R488W|ERBB4_uc010fut.1_Missense_Mutation_p.R488W	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	488	Extracellular (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTGTTGTCCCGGATTACTATT	0.343										TSP Lung(8;0.080)			A	212566719	G	A	212566719	3	1	70	1	0	0	0	0	1	0	0	0	5209	1115	39	1	2532	1	ERBB4	2	212566719	Missense_Mutation	SNP	G	TCGA-BR-8295-01A-11D-2340-08	20022969	212566719	30632654	12	48741											
SPHKAP	80309	broad.mit.edu	37	chr2	228882483	228882483	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgacagaatctgggacatcTtcaaggttcatggactcatc	9	9	5	2			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr2:228882483T>A	uc002vpq.2	-	7	3134	c.3087A>T	c.(3085-3087)GAA>GAT	p.E1029D	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1029D|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1029D	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1029						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGGGACATCTTCAAGGTTCA	0.512													A	228882483	T	A	228882483	3	1	70	1	0	0	0	0	1	0	0	0	15047	1606	56	5	2039	5	SPHKAP	2	228882483	Missense_Mutation	SNP	T	TCGA-BR-8295-01A-11D-2340-08	16315764	228882483	14316890	13	48742											
KCNH8	131096	broad.mit.edu	37	chr3	19498281	19498281	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaaaggggatttaattggagCaaatctatcaattaaggacc	10	5	2	0			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr3:19498281C>G	uc003cbk.1	+	11	2042	c.1847C>G	c.(1846-1848)GCA>GGA	p.A616G	KCNH8_uc010hex.1_Missense_Mutation_p.A77G	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	616	cNMP.|Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						TTAATTGGAGCAAATCTATCA	0.378													G	19498281	C	G	19498281	3	3	70	1	0	0	0	0	1	0	0	0	8038	710	25	5	1889	5	KCNH8	3	19498281	Missense_Mutation	SNP	C	TCGA-BR-8295-01A-11D-2340-08		19498281	178524149	14	48743											
PHLDB2	90102	broad.mit.edu	37	chr3	111603422	111603422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtctactctcttggaggGctggaaggtcggaaggcatc	14	8	2	0			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr3:111603422G>A	uc010hqa.2	+	2	909	c.498G>A	c.(496-498)GGG>GGA	p.G166G	PHLDB2_uc003dyc.2_Silent_p.G193G|PHLDB2_uc003dyd.2_Silent_p.G166G|PHLDB2_uc003dyg.2_Silent_p.G166G|PHLDB2_uc003dyh.2_Silent_p.G166G|PHLDB2_uc003dye.3_Silent_p.G166G|PHLDB2_uc003dyf.3_Silent_p.G166G	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	166						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						CTCTTGGAGGGCTGGAAGGTC	0.557													A	111603422	G	A	111603422	2	1	70	1	0	0	0	0	0	0	0	1	11852	1190	42	2		2	PHLDB2	3	111603422	Silent	SNP	G	TCGA-BR-8295-01A-11D-2340-08	92105141	111603422	86419008	15	48744											
ZBTB38	253461	broad.mit.edu	37	chr3	141161650	141161650	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgtattctgtattactgaAaagggagtggttaaagaaga	11	2	1	3			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr3:141161650A>G	uc003etw.2	+	8	1402	c.420A>G	c.(418-420)GAA>GAG	p.E140E	ZBTB38_uc010hun.2_Silent_p.E137E|ZBTB38_uc010huo.2_Silent_p.E140E|ZBTB38_uc003ety.2_Silent_p.E140E|ZBTB38_uc010hup.2_Silent_p.E141E	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	140					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						GTATTACTGAAAAGGGAGTGG	0.418													G	141161650	A	G	141161650	2	3	70	1	0	0	0	0	0	0	0	1	17536	11	1	3		3	ZBTB38	3	141161650	Silent	SNP	A	TCGA-BR-8295-01A-11D-2340-08	29558228	141161650	56860780	16	48745											
AGTR1	185	broad.mit.edu	37	chr3	148459062	148459062	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacttatgctttttactgacTttgccactatgggctgtcta	8	9	1	1			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr3:148459062T>G	uc003ewg.2	+	4	686	c.240T>G	c.(238-240)ACT>ACG	p.T80T	AGTR1_uc003ewh.2_Silent_p.T80T|AGTR1_uc003ewi.2_Silent_p.T80T|AGTR1_uc003ewj.2_Silent_p.T80T|AGTR1_uc003ewk.2_Silent_p.T80T	NM_031850	NP_114038	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	80	Helical; Name=2; (Potential).				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity				0			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TTTTACTGACTTTGCCACTAT	0.433													G	148459062	T	G	148459062	2	3	70	1	0	0	0	0	0	0	0	1	401	1596	56	5		5	AGTR1	3	148459062	Silent	SNP	T	TCGA-BR-8295-01A-11D-2340-08	7297412	148459062	49563368	17	48746											
SERPINI2	5276	broad.mit.edu	37	chr3	167189651	167189651	+	Translation_Start_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtattgtttaaatcaaAatatattcattttcaaaata	2	5	4	0			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr3:167189651A>C	uc003fer.1	-	1	30	c.-28T>G	c.(-30--26)ATTTT>ATGTT		SERPINI2_uc003fes.1_Intron|SERPINI2_uc003fet.1_Intron	NM_006217	NP_006208	O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin),						cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(2)|urinary_tract(1)	3						TTTAAATCAAAATATATTCAT	0.343													C	167189651	A	C	167189651	1	2	70	1	0	0	0	0	0	0	0	0	14119	29	1	5		5	SERPINI2	3	167189651	Translation_Start_Site	SNP	A	TCGA-BR-8295-01A-11D-2340-08	18730589	167189651	30832779	18	48747											
TLR6	10333	broad.mit.edu	37	chr4	38829331	38829331	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggtggcaccgatggtgacGatcagcagagttatgttgca	14	7	1	2			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr4:38829331G>A	uc003gtm.2	-	1	1830	c.1764C>T	c.(1762-1764)ATC>ATT	p.I588I	TLR6_uc010ifg.1_Silent_p.I588I	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6 precursor	588	Helical; (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			ovary(2)	2						CGATGGTGACGATCAGCAGAG	0.493													A	38829331	G	A	38829331	2	1	70	1	0	0	0	0	0	0	0	1	15952	1048	37	1		1	TLR6	4	38829331	Silent	SNP	G	TCGA-BR-8295-01A-11D-2340-08		38829331	152324945	19	48748											
PRDM9	56979	broad.mit.edu	37	chr5	23522495	23522495	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaaagaggtcagcgagccGcaggatgatgattacctctg	12	9	2	3			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr5:23522495G>A	uc003jgo.2	+	7	773	c.591G>A	c.(589-591)CCG>CCA	p.P197P		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	197					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						TCAGCGAGCCGCAGGATGATG	0.443										HNSCC(3;0.000094)			A	23522495	G	A	23522495	2	1	70	1	0	0	0	0	0	0	0	1	12463	1074	38	1		1	PRDM9	5	23522495	Silent	SNP	G	TCGA-BR-8295-01A-11D-2340-08		23522495	157392765	20	48749											
OCLN	4950	broad.mit.edu	37	chr5	68809860	68809860	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaactcgaagaaagatggAcaggtatgacaagtccaata	10	6	0	3			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr5:68809860A>G	uc003jwu.2	+	4	1251	c.815A>G	c.(814-816)GAC>GGC	p.D272G	OCLN_uc003jwv.3_Missense_Mutation_p.D272G	NM_002538	NP_002529			occludin												0		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		AGAAAGATGGACAGGTATGAC	0.393													G	68809860	A	G	68809860	3	3	70	1	0	0	0	0	1	0	0	0	10820	275	10	3	825	3	OCLN	5	68809860	Missense_Mutation	SNP	A	TCGA-BR-8295-01A-11D-2340-08	45287365	68809860	112105400	21	48750											
PCDHA12	56137	broad.mit.edu	37	chr5	140257093	140257093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggccaggccccaaagacgtCgtcgcgggcctcagtgggcg	16	15	1	1			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr5:140257093C>T	uc003lic.2	+	1	2163	c.2036C>T	c.(2035-2037)TCG>TTG	p.S679L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.S679L	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	679	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAAGACGTCGTCGCGGGCC	0.657													T	140257093	C	T	140257093	3	4	70	1	0	0	0	0	1	0	0	0	11522	893	31	1	2038	1	PCDHA12	5	140257093	Missense_Mutation	SNP	C	TCGA-BR-8295-01A-11D-2340-08	71447233	140257093	40658167	22	48751											
NQO2	4835	broad.mit.edu	37	chr6	3017158	3017158	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgtaaccacgggaggcacggCcgagatgtacacgaagacag	14	11	0	2			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr6:3017158C>G	uc003mus.2	+	6	796	c.458C>G	c.(457-459)GCC>GGC	p.A153G	NQO2_uc003mut.2_Missense_Mutation_p.A153G	NM_000904	NP_000895	P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	153						cytoplasm|nucleus	coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity			ovary(1)	1	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Menadione(DB00170)|NADH(DB00157)	GGAGGCACGGCCGAGATGTAC	0.527													G	3017158	C	G	3017158	3	3	70	1	0	0	0	0	1	0	0	0	10612	739	26	5	476	5	NQO2	6	3017158	Missense_Mutation	SNP	C	TCGA-BR-8295-01A-11D-2340-08		3017158	168097909	23	48752											
LRRC1	55227	broad.mit.edu	37	chr6	53764636	53764636	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatcagtggcctgacttcatTaacggatttagtcatttccc	7	10	3	1			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr6:53764636T>A	uc003pcd.1	+	8	1011	c.734T>A	c.(733-735)TTA>TAA	p.L245*		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	245	LRR 11.					cytoplasm|membrane				ovary(1)	1	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CTGACTTCATTAACGGATTTA	0.403													A	53764636	T	A	53764636	4	1	70	1	0	0	0	0	0	1	0	0	8966	1764	61	5	764	5	LRRC1	6	53764636	Nonsense_Mutation	SNP	T	TCGA-BR-8295-01A-11D-2340-08	50747478	53764636	117350431	24	48753											
FAM46A	55603	broad.mit.edu	37	chr6	82461589	82461589	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggctgcagctcgagcgtgggGaagttgccgcgcccgtgaat	17	11	0	1			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr6:82461589G>T	uc003pjg.2	-	2	588	c.270C>A	c.(268-270)TTC>TTA	p.F90L	FAM46A_uc003pjf.2_Missense_Mutation_p.F109L|FAM46A_uc003pjh.1_Missense_Mutation_p.F90L	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN	hypothetical protein LOC55603	90											0		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		CGAGCGTGGGGAAGTTGCCGC	0.667													T	82461589	G	T	82461589	3	4	70	1	0	0	0	0	1	0	0	0	5565	1165	41	5	1066	5	FAM46A	6	82461589	Missense_Mutation	SNP	G	TCGA-BR-8295-01A-11D-2340-08	28696953	82461589	88653478	25	48754											
SYNCRIP	10492	broad.mit.edu	37	chr6	86328634	86328635	+	Frame_Shift_Ins	INS	-	-	T													tattttctccctccaagtctINSttgccattcatttcttccat							TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr6:86328633_86328634C>CT	uc003pla.2	-	9	1723_1724	c.1182_1183G>AG	c.(1180-1185)aaagacfs	p.K394fs	SYNCRIP_uc003pku.3_Frame_Shift_Ins_p.K394fs|SYNCRIP_uc003pkv.3_Frame_Shift_Ins_p.K394fs|SYNCRIP_uc003pkw.3_Frame_Shift_Ins_p.K359fs|SYNCRIP_uc003pkx.3_Frame_Shift_Ins_p.K242fs|SYNCRIP_uc003pky.3_Frame_Shift_Ins_p.K296fs|SYNCRIP_uc003pkz.2_Frame_Shift_Ins_p.K359fs	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein (SYNCRIP), transcript variant 1, mRNA.	394	RRM 3.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CCCTCCAAGTCTTTGCCATTCA	0.312													T	86328635	-	T	86328634	7	5	70	1	0	1	1	0	0	0	0	0	15441	1606	56	0	743	0	SYNCRIP	6	86328634	Frame_Shift_Ins	INS	-	TCGA-BR-8295-01A-11D-2340-08	3867045	86328634	84786433	26	48755											
MIOS	54468	broad.mit.edu	37	chr7	7612723	7612723	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctccttgctggtatgcatcGtaacctagctatatttgatc	7	10	1	1			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr7:7612723G>C	uc003srf.2	+	4	925	c.617G>C	c.(616-618)CGT>CCT	p.R206P	MIOS_uc010ktp.1_Missense_Mutation_p.R206P	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	206	WD 3.										0						GGTATGCATCGTAACCTAGCT	0.413													C	7612723	G	C	7612723	3	2	70	1	0	0	0	0	1	0	0	0	9589	1145	40	5	619	5	MIOS	7	7612723	Missense_Mutation	SNP	G	TCGA-BR-8295-01A-11D-2340-08		7612723	151525940	27	48756											
WBSCR17	64409	broad.mit.edu	37	chr7	70800605	70800605	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggggccttccggctactcTttccccggctgaagaagaaa	12	12	1	3			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr7:70800605T>C	uc003tvy.2	+	2	308	c.308T>C	c.(307-309)CTT>CCT	p.L103P	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	103	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCGGCTACTCTTTCCCCGGCT	0.463													C	70800605	T	C	70800605	3	2	70	1	0	0	0	0	1	0	0	0	17261	1609	56	3	314	3	WBSCR17	7	70800605	Missense_Mutation	SNP	T	TCGA-BR-8295-01A-11D-2340-08	63187882	70800605	88338058	28	48757											
CAV2	858	broad.mit.edu	37	chr7	116140362	116140365	+	Frame_Shift_Del	DEL	GACA	GACA	-													cggtgactacgcactcctttGacaaagtgtggatctgcagc							TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr7:116140362_116140365delGACA	uc003vid.2	+	2	591_594	c.199_202delGACA	c.(199-204)GACAAAfs	p.D67fs	CAV2_uc003vhv.2_Intron|CAV2_uc003vhw.2_Intron|CAV2_uc003vhx.2_Intron|CAV2_uc010lkb.1_Intron|CAV2_uc010lkc.2_RNA|CAV2_uc003vib.2_Intron|CAV2_uc003vhz.2_RNA|CAV2_uc003via.2_RNA|CAV1_uc010lkd.1_Intron|CAV1_uc010lke.1_Intron|CAV2_uc003vie.2_Intron	NM_001233	NP_001224	P51636	CAV2_HUMAN	caveolin 2 isoform a and b	67_68	Cytoplasmic (Potential).				caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion	caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle	D1 dopamine receptor binding|protein homodimerization activity				0	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			GCACTCCTTTGACAAAGTGTGGAT	0.569													-	116140365	GACA	-	116140362	7	5	70	1	0	1	0	1	0	0	0	0	2694	1290	45	0	205	0	CAV2	7	116140362	Frame_Shift_Del	DEL	GACA	TCGA-BR-8295-01A-11D-2340-08	45339757	116140362	42998301	29	48758											
CFTR	1080	broad.mit.edu	37	chr7	117267653	117267653	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaagtcaaccaaaccataCaagaatggccaactctcgaa	5	13	2	1			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr7:117267653C>T	uc003vjd.2	+	22	3678	c.3546C>T	c.(3544-3546)TAC>TAT	p.Y1182Y	CFTR_uc011knq.1_Silent_p.Y588Y	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	1182	Cytoplasmic (Potential).				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CCAAACCATACAAGAATGGCC	0.403									Cystic_Fibrosis				T	117267653	C	T	117267653	2	4	70	1	0	0	0	0	0	0	0	1	3294	489	17	4		4	CFTR	7	117267653	Silent	SNP	C	TCGA-BR-8295-01A-11D-2340-08	1127291	117267653	41871010	30	48759											
CNTNAP2	26047	broad.mit.edu	37	chr7	146536859	146536859	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaatggcttcaggttgacTttggcaatcggaagcagatc	11	8	2	2			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr7:146536859T>G	uc003weu.1	+	3	781	c.265T>G	c.(265-267)TTT>GTT	p.F89V		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	89	F5/8 type C.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCAGGTTGACTTTGGCAATCG	0.488										HNSCC(39;0.1)			G	146536859	T	G	146536859	3	3	70	1	0	0	0	0	1	0	0	0	3647	1609	56	5	275	5	CNTNAP2	7	146536859	Missense_Mutation	SNP	T	TCGA-BR-8295-01A-11D-2340-08	29269206	146536859	12601804	31	48760											
ERLIN2	11160	broad.mit.edu	37	chr8	37611483	37611483	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgaagtacaaggccattgcTtccaacagcaagatttactt	7	9	0	2			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr8:37611483T>A	uc003xke.3	+	12	985	c.870T>A	c.(868-870)GCT>GCA	p.A290A		NM_007175	NP_009106	O94905	ERLN2_HUMAN	ER lipid raft associated 2 isoform 1	290	Interaction with ERLIN1.|Lumenal (Potential).				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding				0		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGGCCATTGCTTCCAACAGCA	0.418													A	37611483	T	A	37611483	2	1	70	1	0	0	0	0	0	0	0	1	5233	1596	56	5		5	ERLIN2	8	37611483	Silent	SNP	T	TCGA-BR-8295-01A-11D-2340-08		37611483	108752539	32	48761											
LAMC3	10319	broad.mit.edu	37	chr9	133901754	133901754	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatctacaagcgcagccgCgccgacggcccatgggagcc	13	17	1	0			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr9:133901754C>T	uc004caa.1	+	2	554	c.456C>T	c.(454-456)CGC>CGT	p.R152R		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	152	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGCGCAGCCGCGCCGACGGCC	0.642													T	133901754	C	T	133901754	2	4	70	1	0	0	0	0	0	0	0	1	8616	755	27	1		1	LAMC3	9	133901754	Silent	SNP	C	TCGA-BR-8295-01A-11D-2340-08		133901754	7311677	33	48762											
DMBT1	1755	broad.mit.edu	37	chr10	124377716	124377716	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcagccccaggaaatgcccAgtttggccagggctcaggac	13	13	2	0			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr10:124377716A>G	uc001lgk.1	+	38	4794	c.4688A>G	c.(4687-4689)CAG>CGG	p.Q1563R	DMBT1_uc001lgl.1_Missense_Mutation_p.Q1553R|DMBT1_uc001lgm.1_Missense_Mutation_p.Q935R|DMBT1_uc009xzz.1_Missense_Mutation_p.Q1563R|DMBT1_uc010qtx.1_Missense_Mutation_p.Q414R|DMBT1_uc009yab.1_Missense_Mutation_p.Q266R|DMBT1_uc009yac.1_5'Flank	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1563	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGAAATGCCCAGTTTGGCCAG	0.612													G	124377716	A	G	124377716	3	3	70	1	0	0	0	0	1	0	0	0	4577	188	7	3	4838	3	DMBT1	10	124377716	Missense_Mutation	SNP	A	TCGA-BR-8295-01A-11D-2340-08		124377716	11157031	34	48763											
MRVI1	10335	broad.mit.edu	37	chr11	10650316	10650316	+	Frame_Shift_Del	DEL	T	T	-													acctggcggggtggggactgTaagtgagttgctccgagagg							TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr11:10650316delT	uc010rcc.1	-	6	1020	c.634delA	c.(634-636)ACAfs	p.T212fs	MRVI1_uc001miw.2_Frame_Shift_Del_p.T203fs|MRVI1_uc010rcb.1_Frame_Shift_Del_p.T203fs|MRVI1_uc009ygb.1_5'UTR|MRVI1_uc001mix.2_5'UTR|MRVI1_uc001miz.2_Frame_Shift_Del_p.T121fs|MRVI1_uc009ygc.1_Frame_Shift_Del_p.T121fs|MRVI1_uc010rcd.1_Frame_Shift_Del_p.T212fs|MRVI1_uc009ygd.1_5'UTR|MRVI1_uc010rce.1_RNA	NM_001100167	NP_001093637	Q9Y6F6	MRVI1_HUMAN	JAW1-related protein isoform c	203					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				ovary(2)|central_nervous_system(1)	3				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GTGGGGACTGTAAGTGAGTTG	0.607													-	10650316	T	-	10650316	7	5	70	1	0	1	0	1	0	0	0	0	9853	1638	57	0	2168	0	MRVI1	11	10650316	Frame_Shift_Del	DEL	T	TCGA-BR-8295-01A-11D-2340-08		10650316	124356200	35	48764											
OR4A47	403253	broad.mit.edu	37	chr11	48510989	48510989	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgctcttactcatctcTtatggtgtcatcttgcactc	5	12	6	0			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr11:48510989T>C	uc010rhx.1	+	1	645	c.645T>C	c.(643-645)TCT>TCC	p.S215S		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	215	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TACTCATCTCTTATGGTGTCA	0.463													C	48510989	T	C	48510989	2	2	70	1	0	0	0	0	0	0	0	1	11042	1596	56	3		3	OR4A47	11	48510989	Silent	SNP	T	TCGA-BR-8295-01A-11D-2340-08	37860673	48510989	86495527	36	48765											
OR5M3	219482	broad.mit.edu	37	chr11	56237826	56237826	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggttgttaagctgaggacTgaccttgattaacaccatca	11	8	1	3			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr11:56237826T>C	uc010rjk.1	-	1	148	c.148A>G	c.(148-150)AGT>GGT	p.S50G		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	50	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					AGCTGAGGACTGACCTTGATT	0.433													C	56237826	T	C	56237826	3	2	70	1	0	0	0	0	1	0	0	0	11175	1580	55	3	777	3	OR5M3	11	56237826	Missense_Mutation	SNP	T	TCGA-BR-8295-01A-11D-2340-08	7726837	56237826	78768690	37	48766											
LRRK2	120892	broad.mit.edu	37	chr12	40692056	40692056	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttttcagactctgaagagTttgacacatttggacttgca	8	8	3	4			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr12:40692056T>G	uc001rmg.3	+	24	3229	c.3108T>G	c.(3106-3108)AGT>AGG	p.S1036R	LRRK2_uc001rmh.1_Missense_Mutation_p.S658R|LRRK2_uc009zjw.2_5'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1036	LRR 3.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTCTGAAGAGTTTGACACATT	0.333													G	40692056	T	G	40692056	3	3	70	1	0	0	0	0	1	0	0	0	9033	1722	60	5	3202	5	LRRK2	12	40692056	Missense_Mutation	SNP	T	TCGA-BR-8295-01A-11D-2340-08		40692056	93159839	38	48767											
C12orf66	144577	broad.mit.edu	37	chr12	64587772	64587772	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtaaagtgaggttccgggcgGgttaggaagtaggtactctg	17	5	1	1			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr12:64587772G>C	uc001srw.3	-	3	1247	c.1188C>G	c.(1186-1188)ACC>ACG	p.T396T	C12orf66_uc009zql.2_Silent_p.T343T	NM_152440	NP_689653	Q96MD2	CL066_HUMAN	hypothetical protein LOC144577	396										ovary(1)	1						GTTCCGGGCGGGTTAGGAAGT	0.448													C	64587772	G	C	64587772	2	2	70	1	0	0	0	0	0	0	0	1	1709	1219	43	5		5	C12orf66	12	64587772	Silent	SNP	G	TCGA-BR-8295-01A-11D-2340-08	23895716	64587772	69264123	39	48768											
PLBD2	196463	broad.mit.edu	37	chr12	113812717	113812717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagctgctccctggccagaGtgacctcctggttgcccaca	10	16	0	2			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr12:113812717G>A	uc001tve.2	+	5	799	c.764G>A	c.(763-765)AGT>AAT	p.S255N	PLBD2_uc001tvf.2_Missense_Mutation_p.S255N	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2 isoform 1	255					lipid catabolic process	lysosomal lumen	hydrolase activity				0						CCTGGCCAGAGTGACCTCCTG	0.582													A	113812717	G	A	113812717	3	1	70	1	0	0	0	0	1	0	0	0	12026	1029	36	4	782	4	PLBD2	12	113812717	Missense_Mutation	SNP	G	TCGA-BR-8295-01A-11D-2340-08	49224945	113812717	20039178	40	48769											
GCN1L1	10985	broad.mit.edu	37	chr12	120575538	120575538	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctcagggctgcgggtggcCtccagcagatactcgatgat	13	12	1	2			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr12:120575538C>G	uc001txo.2	-	49	6487	c.6474G>C	c.(6472-6474)GAG>GAC	p.E2158D		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2158					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCGGGTGGCCTCCAGCAGAT	0.572													G	120575538	C	G	120575538	3	3	70	1	0	0	0	0	1	0	0	0	6299	680	24	5	1581	5	GCN1L1	12	120575538	Missense_Mutation	SNP	C	TCGA-BR-8295-01A-11D-2340-08	6762821	120575538	13276357	41	48770											
RIMBP2	23504	broad.mit.edu	37	chr12	130898838	130898838	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtctggagaaaggcggtcTcgcccgtaatcgtctgcgag	14	10	3	1			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr12:130898838T>C	uc001uil.2	-	14	2648	c.2484A>G	c.(2482-2484)CGA>CGG	p.R828R		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	828						cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AAAGGCGGTCTCGCCCGTAAT	0.572													C	130898838	T	C	130898838	2	2	70	1	0	0	0	0	0	0	0	1	13363	1538	54	3		3	RIMBP2	12	130898838	Silent	SNP	T	TCGA-BR-8295-01A-11D-2340-08	10323300	130898838	2953057	42	48771											
C14orf145	145508	broad.mit.edu	37	chr14	81251532	81251532	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atctgctcggatggcactcaGgtccttgatggactcttgca	11	11	3	1			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr14:81251532G>C	uc001xux.2	-	14	2089	c.1918C>G	c.(1918-1920)CTG>GTG	p.L640V	C14orf145_uc010asz.1_RNA	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	640	Potential.					centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		ATGGCACTCAGGTCCTTGATG	0.478													C	81251532	G	C	81251532	3	2	70	1	0	0	0	0	1	0	0	0	1749	991	35	5	1410	5	C14orf145	14	81251532	Missense_Mutation	SNP	G	TCGA-BR-8295-01A-11D-2340-08		81251532	26098008	43	48772											
NEIL1	79661	broad.mit.edu	37	chr15	75641581	75641582	+	Frame_Shift_Del	DEL	TA	TA	-													gcctggcccccggctcgcccTatgtttcgtggacatccgcc							TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr15:75641580_75641581CTA>C	uc002bae.3	+	1	745_746	c.592_593CTA>C	c.(592-594)ctafs	p.L198fs	NEIL1_uc002bad.3_Frame_Shift_Del_p.L112fs	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	Homo sapiens nei endonuclease VIII-like 1 (E. coli) (NEIL1), mRNA.	112					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	DNA-(apurinic or apyrimidinic site) lyase activity|damaged DNA binding|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						CCGGCTCGCCCTATGTTTCGTG	0.683								Base excision repair (BER), DNA glycosylases					-	75641582	TA	-	75641581	7	5	70	1	0	1	0	1	0	0	0	0	10318	1522	53	0	337	0	NEIL1	15	75641581	Frame_Shift_Del	DEL	TA	TCGA-BR-8295-01A-11D-2340-08		75641581	26889811	44	48773											
C15orf26	161502	broad.mit.edu	37	chr15	81428957	81428957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagctgatgtgtttctgcGtggggacctgagcctgtgta	15	7	1	3			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr15:81428957G>A	uc002bgb.2	+	3	287	c.260G>A	c.(259-261)CGT>CAT	p.R87H	C15orf26_uc010blp.1_Missense_Mutation_p.R62H	NM_173528	NP_775799	Q6P656	CO026_HUMAN	hypothetical protein LOC161502	87											0						GTGTTTCTGCGTGGGGACCTG	0.473													A	81428957	G	A	81428957	3	1	70	1	0	0	0	0	1	0	0	0	1787	1145	40	1	270	1	C15orf26	15	81428957	Missense_Mutation	SNP	G	TCGA-BR-8295-01A-11D-2340-08	5787376	81428957	21102435	45	48774											
RANBP10	57610	broad.mit.edu	37	chr16	67763622	67763622	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	actactggggccatgtcgggGactgaggctgggggagccag	19	9	0	1	rs142221372		TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr16:67763622G>C	uc002eud.2	-	9	1224	c.1108C>G	c.(1108-1110)CCC>GCC	p.P370A	RANBP10_uc010ceo.2_Missense_Mutation_p.P141A|RANBP10_uc010vju.1_Missense_Mutation_p.P314A|RANBP10_uc010vjv.1_Missense_Mutation_p.P253A|RANBP10_uc010vjw.1_Missense_Mutation_p.P31A	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	370	Ser-rich.									ovary(1)	1		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CCATGTCGGGGACTGAGGCTG	0.602													C	67763622	G	C	67763622	3	2	70	1	0	0	0	0	1	0	0	0	13026	1174	41	5	778	5	RANBP10	16	67763622	Missense_Mutation	SNP	G	TCGA-BR-8295-01A-11D-2340-08		67763622	22591131	46	48775											
TP53	7157	broad.mit.edu	37	chr17	7577554	7577562	+	In_Frame_Del	DEL	TGCAGGAAC	TGCAGGAAC	-													cctccggttcatgccgcccaTgcaggaactgttacacatgt					rs121912655		TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr17:7577553_7577561ATGCAGGAAC>A	uc002gim.2	-	6	914_922	c.720_728GTTCCTGCAT>T	c.(718-729)agttcctgcatg>agTg	p.SCM241del	TP53_uc002gig.1_In_Frame_Del_p.SCM241del|TP53_uc002gih.3_In_Frame_Del_p.SCM241del|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_In_Frame_Del_p.SCM109del|TP53_uc010cnf.1_In_Frame_Del_p.SCM109del|TP53_uc002gii.1_In_Frame_Del_p.SCM109del|TP53_uc010cni.1_In_Frame_Del_p.SCM241del|TP53_uc010cnh.1_In_Frame_Del_p.SCM241del|TP53_uc002gij.2_In_Frame_Del_p.SCM241del|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_In_Frame_Del_p.SCM148del|TP53_uc002gio.2_In_Frame_Del_p.SCM109del|DL476309_uc021tpg.1_5'UTR|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(163)|p.C242F(156)|p.C242Y(85)|p.C242S(53)|p.S241C(50)|p.C242fs*5(32)|p.C242R(24)|p.M243L(20)|p.S241fs*6(18)|p.S241A(17)|p.S240R(16)|p.S241Y(16)|p.S240G(14)|p.C242W(14)|p.S241T(14)|p.S241del(10)|p.M243T(10)|p.0?(8)|p.M243I(7)|p.N239_C242delNSSC(6)|p.S241P(6)|p.M243V(6)|p.C242*(6)|p.S241S(6)|p.C149F(6)|p.S240I(6)|p.?(5)|p.S148F(4)|p.S240S(4)|p.C242C(4)|p.C242G(4)|p.M243R(4)|p.M243K(4)|p.N239_S240delNS(4)|p.S241fs*22(4)|p.S240C(3)|p.C242fs*20(2)|p.C242fs*23(2)|p.Y236_M243delYMCNSSCM(2)|p.C242_M246>L(2)|p.S240>CSC(2)|p.C238_M246delCNSSCMGGM(2)|p.S240P(2)|p.S241_C242insX(2)|p.S240T(2)|p.M243fs*4(2)|p.C242fs*98(2)|p.S240fs*7(2)|p.M243fs*18(2)|p.S241fs*7(2)|p.C149Y(2)|p.H233_C242del10(2)|p.N239_C242>S(2)|p.N239_S240insX(2)|p.S241fs*23(2)|p.S241_G245delSCMGG(2)|p.N239_C242del(2)|p.S148T(1)|p.M243_G244>IC(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.S240fs*26(1)|p.S148C(1)|p.N239_S240insN(1)|p.S240fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CATGCCGCCCATGCAGGAACTGTTACACA	0.579		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			-	7577562	TGCAGGAAC	-	7577554	7	5	70	1	0	1	0	1	0	0	0	0	16378	1464	51	0	563	0	TP53	17	7577554	In_Frame_Del	DEL	TGCAGGAAC	TCGA-BR-8295-01A-11D-2340-08		7577554	73617656	47	48776											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917788	48917788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatgctggcctgcatgaGcgggccgctggccgcgtgca	16	14	0	1			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr17:48917788G>A	uc002isv.3	+	2	1833	c.1139G>A	c.(1138-1140)AGC>AAC	p.S380N	WFIKKN2_uc010dbu.2_Missense_Mutation_p.S287N	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	380						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GCCTGCATGAGCGGGCCGCTG	0.662													A	48917788	G	A	48917788	3	1	70	1	0	0	0	0	1	0	0	0	17356	971	34	2	1145	2	WFIKKN2	17	48917788	Missense_Mutation	SNP	G	TCGA-BR-8295-01A-11D-2340-08	41340234	48917788	32277422	48	48777											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	70	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-BR-8295-01A-11D-2340-08	7468596	56386384	24808826	49	48778											
LAMA1	284217	broad.mit.edu	37	chr18	7080363	7080363	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacctggcacatgctccacaAgtttgcagaacatctccggc	9	14	1	1			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr18:7080363A>T	uc002knm.2	-	2	249	c.155T>A	c.(154-156)CTT>CAT	p.L52H	LAMA1_uc010wzj.1_Translation_Start_Site	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	52	Laminin N-terminal.				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)	ATGCTCCACAAGTTTGCAGAA	0.562													T	7080363	A	T	7080363	3	4	70	1	0	0	0	0	1	0	0	0	8605	72	3	5	9320	5	LAMA1	18	7080363	Missense_Mutation	SNP	A	TCGA-BR-8295-01A-11D-2340-08		7080363	70996885	50	48779											
CEP192	55125	broad.mit.edu	37	chr18	13087566	13087566	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ataatccatcagacagaggaAtcaataataaaactgcaaca	5	8	2	2	rs138701530		TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr18:13087566A>T	uc010xac.1	+	32	5994	c.5914A>T	c.(5914-5916)ATC>TTC	p.I1972F	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.I1497F|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.I394F|CEP192_uc002krw.2_Missense_Mutation_p.I121F|CEP192_uc002krx.2_5'UTR|CEP192_uc002kry.2_5'Flank	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1972										ovary(4)|pancreas(1)	5						AGACAGAGGAATCAATAATAA	0.284													T	13087566	A	T	13087566	3	4	70	1	0	0	0	0	1	0	0	0	3251	101	4	5	6036	5	CEP192	18	13087566	Missense_Mutation	SNP	A	TCGA-BR-8295-01A-11D-2340-08	6007203	13087566	64989682	51	48780											
DOK6	220164	broad.mit.edu	37	chr18	67406320	67406320	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acatgaaagattaatgctagAaatggaacagaaggcccggg	12	6	0	4			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr18:67406320A>T	uc002lkl.2	+	6	909	c.719A>T	c.(718-720)GAA>GTA	p.E240V		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	docking protein 6	240							insulin receptor binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TTAATGCTAGAAATGGAACAG	0.458													T	67406320	A	T	67406320	3	4	70	1	0	0	0	0	1	0	0	0	4701	246	9	5	741	5	DOK6	18	67406320	Missense_Mutation	SNP	A	TCGA-BR-8295-01A-11D-2340-08	54318754	67406320	10670928	52	48781											
MUC16	94025	broad.mit.edu	37	chr19	9045953	9045954	+	Frame_Shift_Del	DEL	AG	AG	-													agacagcaggggaaacagtcAgagttagagtactcgtgctg							TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr19:9045952_9045953CAG>C	uc002mkp.3	-	4	35882_35883	c.35678_35679CTG>G	c.(35677-35679)ctgfs	p.L11893fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11895	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAAACAGTCAGAGTTAGAGT	0.48													-	9045954	AG	-	9045953	7	5	70	1	0	1	0	1	0	0	0	0	9973	188	7	0	8165	0	MUC16	19	9045953	Frame_Shift_Del	DEL	AG	TCGA-BR-8295-01A-11D-2340-08		9045953	50083030	53	48782											
ZNF714	148206	broad.mit.edu	37	chr19	21300801	21300801	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaaccttactacacataagaGaattcacactggagagaaac	6	9	1	2			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr19:21300801G>C	uc002npo.3	+	6	1694	c.1334G>C	c.(1333-1335)AGA>ACA	p.R445T	ZNF714_uc002npl.2_Missense_Mutation_p.R290T|ZNF714_uc010ecp.1_Missense_Mutation_p.R396T|ZNF714_uc002npn.2_RNA	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	445	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ACACATAAGAGAATTCACACT	0.368													C	21300801	G	C	21300801	3	2	70	1	0	0	0	0	1	0	0	0	18115	942	33	5	1341	5	ZNF714	19	21300801	Missense_Mutation	SNP	G	TCGA-BR-8295-01A-11D-2340-08	12254848	21300801	37828182	54	48783											
PNMAL2	57469	broad.mit.edu	37	chr19	46997109	46997109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcccctgggggccgtgcgCgccctcttggcccggggctt	17	16	1	0			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr19:46997109C>T	uc002pes.2	-	1	2061	c.1614G>A	c.(1612-1614)GCG>GCA	p.A538A	uc002peu.1_5'Flank	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	538										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GGGCCGTGCGCGCCCTCTTGG	0.761													T	46997109	C	T	46997109	2	4	70	1	0	0	0	0	0	0	0	1	12158	755	27	1		1	PNMAL2	19	46997109	Silent	SNP	C	TCGA-BR-8295-01A-11D-2340-08	25696308	46997109	12131874	55	48784											
CLDN8	9073	broad.mit.edu	37	chr21	31587611	31587611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctcggtgacttctttccGgtgtgataacttttttgggt	11	8	1	2			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr21:31587611G>A	uc002ynu.1	-	1	708	c.633C>T	c.(631-633)ACC>ACT	p.T211T		NM_199328	NP_955360	P56748	CLD8_HUMAN	claudin 8	211	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0						ACTTCTTTCCGGTGTGATAAC	0.403													A	31587611	G	A	31587611	2	1	70	1	0	0	0	0	0	0	0	1	3491	1103	39	1		1	CLDN8	21	31587611	Silent	SNP	G	TCGA-BR-8295-01A-11D-2340-08		31587611	16542284	56	48785											
RFPL2	10739	broad.mit.edu	37	chr22	32588982	32588982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccagcctctctagctgccGattgcgcctgattttgttct	9	13	2	1			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr22:32588982G>A	uc003amg.3	-	4	1399	c.463C>T	c.(463-465)CGG>TGG	p.R155W	RFPL2_uc003ame.3_Missense_Mutation_p.R94W|RFPL2_uc003amf.3_Missense_Mutation_p.R65W|RFPL2_uc003amh.3_Missense_Mutation_p.R65W	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN	ret finger protein-like 2 isoform 2	155							zinc ion binding			skin(1)	1						TCTAGCTGCCGATTGCGCCTG	0.517													A	32588982	G	A	32588982	3	1	70	1	0	0	0	0	1	0	0	0	13254	1057	37	1	681	1	RFPL2	22	32588982	Missense_Mutation	SNP	G	TCGA-BR-8295-01A-11D-2340-08		32588982	18715584	57	48786											
KDELR3	11015	broad.mit.edu	37	chr22	38877230	38877233	+	Frame_Shift_Del	DEL	TCTC	TCTC	-													ggctcagatcctctggacttTctctatctatctggaatcag					rs142887079	byFrequency	TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr22:38877229_38877232TTCTC>T	uc003avu.3	+	3	520_523	c.364_367TTCTC>T	c.(364-369)ttctctfs	p.F122fs	KDELR3_uc003avv.3_Frame_Shift_Del_p.F122fs	NM_016657	NP_057839	O43731	ERD23_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 (KDELR3), transcript variant 2, mRNA.	122					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					CCTCTGGACTTTCTCTATCTATCT	0.451													-	38877233	TCTC	-	38877230	7	5	70	1	0	1	0	1	0	0	0	0	8121	1783	62	0	379	0	KDELR3	22	38877230	Frame_Shift_Del	DEL	TCTC	TCGA-BR-8295-01A-11D-2340-08	6288248	38877230	12427336	58	48787											
MAGEB1	4112	broad.mit.edu	37	chrX	30269583	30269583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccagtgttagagccaggCgtcgcactactgccacgact	11	13	0	1			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chrX:30269583C>T	uc004dcc.2	+	4	1293	c.973C>T	c.(973-975)CGT>TGT	p.R325C	MAGEB1_uc004dcd.2_Missense_Mutation_p.R325C|MAGEB1_uc004dce.2_Missense_Mutation_p.R325C	NM_002363	NP_002354	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	325											0						TAGAGCCAGGCGTCGCACTAC	0.527													T	30269583	C	T	30269583	3	4	70	1	0	0	0	0	1	0	0	0	9172	768	27	1	975	1	MAGEB1	23	30269583	Missense_Mutation	SNP	C	TCGA-BR-8295-01A-11D-2340-08		30269583	125000977	59	48788											
WAS	7454	broad.mit.edu	37	chrX	48544341	48544341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctatccacagacagacGccagctacccccaccaccaa	4	20	1	2			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chrX:48544341G>A	uc004dkm.3	+	5	527	c.470G>A	c.(469-471)CGC>CAC	p.R157H		NM_000377	NP_000368	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome protein	157					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			ovary(1)	1		all_lung(315;1.27e-10)				ACAGACAGACGCCAGCTACCC	0.567			Mis|N|F|S			lymphoma			Wiskott-Aldrich_syndrome				A	48544341	G	A	48544341	3	1	70	1	0	0	0	0	1	0	0	0	17248	1087	38	1	488	1	WAS	23	48544341	Missense_Mutation	SNP	G	TCGA-BR-8295-01A-11D-2340-08	18274758	48544341	106726219	60	48789											
TTC4	7268	broad.mit.edu	37	chr1	55186864	55186864	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgttctgctctcaatgatgtGacagctgccagaaagctaaa	9	10	2	3			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr1:55186864G>A	uc001cxx.3	+	4	473	c.420G>A	c.(418-420)GTG>GTA	p.V140V	C1orf175_uc001cxq.2_RNA|TTC4_uc001cxw.3_Silent_p.V140V|TTC4_uc001cxv.2_Silent_p.V151V	NM_004623	NP_004614	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	140	TPR 2.						binding				0						TCAATGATGTGACAGCTGCCA	0.343													A	55186864	G	A	55186864	2	1	71	1	0	0	0	0	0	0	0	1	16707	1277	45	4		4	TTC4	1	55186864	Silent	SNP	G	TCGA-BR-8296-01A-11D-2340-08		55186864	194063757	1	48790											
TLR5	7100	broad.mit.edu	37	chr1	223285764	223285764	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctatacaagctattagctgCgaggctaaaaaaggagagcg	12	7	0	1			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr1:223285764C>A	uc001hnv.1	-	4	1056	c.610G>T	c.(610-612)GCA>TCA	p.A204S	TLR5_uc001hnw.1_Missense_Mutation_p.A204S	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	204	Extracellular (Potential).				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)		CTATTAGCTGCGAGGCTAAAA	0.428													A	223285764	C	A	223285764	3	1	71	1	0	0	0	0	1	0	0	0	15951	768	27	5	1970	5	TLR5	1	223285764	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08	168098900	223285764	25964857	2	48791											
OBSCN	84033	broad.mit.edu	37	chr1	228481244	228481244	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagctgcagatccgcggcctCgtggcagaggacgctgggga	18	11	0	2			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr1:228481244C>T	uc009xez.1	+	41	11102	c.11058C>T	c.(11056-11058)CTC>CTT	p.L3686L	OBSCN_uc001hsn.2_Silent_p.L3686L|OBSCN_uc001hsq.1_Silent_p.L942L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3686	Ig-like 37.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TCCGCGGCCTCGTGGCAGAGG	0.642													T	228481244	C	T	228481244	2	4	71	1	0	0	0	0	0	0	0	1	10812	871	31	1		1	OBSCN	1	228481244	Silent	SNP	C	TCGA-BR-8296-01A-11D-2340-08	5195480	228481244	20769377	3	48792											
MTR	4548	broad.mit.edu	37	chr1	237026774	237026774	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacccttaccagggcaccatCgtgctggccactgttaaagg	11	13	0	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr1:237026774C>T	uc001hyi.3	+	22	2748	c.2325C>T	c.(2323-2325)ATC>ATT	p.I775I	MTR_uc010pxw.1_Silent_p.I368I|MTR_uc010pxx.1_Silent_p.I724I|MTR_uc010pxy.1_Silent_p.I629I	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	775	B12-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGGCACCATCGTGCTGGCCA	0.547													T	237026774	C	T	237026774	2	4	71	1	0	0	0	0	0	0	0	1	9958	874	31	1		1	MTR	1	237026774	Silent	SNP	C	TCGA-BR-8296-01A-11D-2340-08	8545530	237026774	12223847	4	48793											
RAB10	10890	broad.mit.edu	37	chr2	26332773	26332773	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatggcttagaaacatagatGaggtaagacctagaacttgt	10	5	0	5			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr2:26332773G>T	uc002rgv.2	+	3	1074	c.325G>T	c.(325-327)GAG>TAG	p.E109*		NM_016131	NP_057215	P61026	RAB10_HUMAN	ras-related GTP-binding protein RAB10	109					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAACATAGATGAGGTAAGACC	0.368													T	26332773	G	T	26332773	4	4	71	1	0	0	0	0	0	1	0	0	12890	1291	45	5	335	5	RAB10	2	26332773	Nonsense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08		26332773	216866600	5	48794											
PLB1	151056	broad.mit.edu	37	chr2	28812361	28812361	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgggcgatatgacacaagGgaagattttactgtggttgt	14	4	0	2			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr2:28812361G>A	uc002rmb.1	+	27	1860	c.1860G>A	c.(1858-1860)AGG>AGA	p.R620R	PLB1_uc010ezj.1_Silent_p.R609R|PLB1_uc002rmc.2_Silent_p.R308R|PLB1_uc002rmd.1_Silent_p.R130R	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	620	4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential).				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					ATGACACAAGGGAAGATTTTA	0.488													A	28812361	G	A	28812361	2	1	71	1	0	0	0	0	0	0	0	1	12024	1223	43	4		4	PLB1	2	28812361	Silent	SNP	G	TCGA-BR-8296-01A-11D-2340-08	2479588	28812361	214387012	6	48795											
TMEM178	130733	broad.mit.edu	37	chr2	39893123	39893123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgggaagccatggagccGcgggcgctcgtcacggcgct	19	13	1	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr2:39893123G>A	uc002rrt.2	+	1	34	c.9G>A	c.(7-9)CCG>CCA	p.P3P	TMEM178_uc010fam.1_Silent_p.P3P	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	transmembrane protein 178 precursor	3						integral to membrane					0		all_hematologic(82;0.248)				CCATGGAGCCGCGGGCGCTCG	0.473													A	39893123	G	A	39893123	2	1	71	1	0	0	0	0	0	0	0	1	16092	1074	38	1		1	TMEM178	2	39893123	Silent	SNP	G	TCGA-BR-8296-01A-11D-2340-08	11080762	39893123	203306250	7	48796											
PSD4	23550	broad.mit.edu	37	chr2	113942985	113942985	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagagaggaggtcctttttGgccccaggtgactcttaact	12	10	1	2			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr2:113942985G>A	uc002tjc.2	+	4	1400	c.1217G>A	c.(1216-1218)TGG>TAG	p.W406*	PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Nonsense_Mutation_p.W405*|PSD4_uc002tjf.2_5'UTR	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	406					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						GGTCCTTTTTGGCCCCAGGTG	0.512													A	113942985	G	A	113942985	4	1	71	1	0	0	0	0	0	1	0	0	12649	1357	47	4	1227	4	PSD4	2	113942985	Nonsense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08	74049862	113942985	129256388	8	48797											
C2orf85	285093	broad.mit.edu	37	chr2	242814250	242814250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggggtggcactggcacCgtctccaggggcaaaccgct	15	14	1	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr2:242814250C>T	uc010fzu.1	+	2	566	c.543C>T	c.(541-543)ACC>ACT	p.T181T		NM_173821	NP_776182	Q14D33	CB085_HUMAN	hypothetical protein LOC285093	181						integral to membrane				ovary(1)	1						GCACTGGCACCGTCTCCAGGG	0.662													T	242814250	C	T	242814250	2	4	71	1	0	0	0	0	0	0	0	1	2200	639	23	1		1	C2orf85	2	242814250	Silent	SNP	C	TCGA-BR-8296-01A-11D-2340-08	128871265	242814250	385123	9	48798											
ATP2B2	491	broad.mit.edu	37	chr3	10417266	10417266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacggcttcttgttgaccaCgaaggtgtccacagtgaagt	11	11	1	2			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr3:10417266C>T	uc003bvt.2	-	11	1703	c.1264G>A	c.(1264-1266)GTG>ATG	p.V422M	ATP2B2_uc003bvv.2_Missense_Mutation_p.V377M|ATP2B2_uc003bvw.2_Missense_Mutation_p.V377M|ATP2B2_uc010hdo.2_Missense_Mutation_p.V127M	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	422	Extracellular (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						TTGTTGACCACGAAGGTGTCC	0.562													T	10417266	C	T	10417266	3	4	71	1	0	0	0	0	1	0	0	0	1140	536	19	1	2519	1	ATP2B2	3	10417266	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08		10417266	187605164	10	48799											
FBLN2	2199	broad.mit.edu	37	chr3	13669425	13669425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactgccaggccaggcagcGctgcatggatggcttcctgc	13	14	0	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr3:13669425G>A	uc011avb.1	+	10	2509	c.2384G>A	c.(2383-2385)CGC>CAC	p.R795H	FBLN2_uc011auz.1_Missense_Mutation_p.R821H|FBLN2_uc011ava.1_Missense_Mutation_p.R842H|FBLN2_uc011avc.1_Missense_Mutation_p.R842H	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	795	EGF-like 4; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCCAGGCAGCGCTGCATGGAT	0.627													A	13669425	G	A	13669425	3	1	71	1	0	0	0	0	1	0	0	0	5699	1087	38	1	1253	1	FBLN2	3	13669425	Missense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08	3252159	13669425	184353005	11	48800											
MBD4	8930	broad.mit.edu	37	chr3	129152786	129152786	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attaaaaggtgaccgaggagGtgtccatttcttaaaggctt	11	6	1	1			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr3:129152786G>T	uc003emh.1	-	5	1494	c.1318C>A	c.(1318-1320)CCT>ACT	p.P440T	MBD4_uc003emi.1_Missense_Mutation_p.P440T|MBD4_uc003emj.1_Missense_Mutation_p.P434T|MBD4_uc003emk.1_Missense_Mutation_p.P122T|MBD4_uc011bkw.1_Missense_Mutation_p.P440T	NM_003925	NP_003916	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	440					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			ovary(1)|lung(1)	2						GACCGAGGAGGTGTCCATTTC	0.413								BER_DNA_glycosylases					T	129152786	G	T	129152786	3	4	71	1	0	0	0	0	1	0	0	0	9346	1261	44	5	440	5	MBD4	3	129152786	Missense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08	115483361	129152786	68869644	12	48801											
EPHB1	2047	broad.mit.edu	37	chr3	134920403	134920403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtacctggctgagatgaatTatgtgcatcgggacctggct	13	8	0	2			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr3:134920403T>C	uc003eqt.2	+	12	2438	c.2218T>C	c.(2218-2220)TAT>CAT	p.Y740H	EPHB1_uc003equ.2_Missense_Mutation_p.Y301H	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	740	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						TGAGATGAATTATGTGCATCG	0.532													C	134920403	T	C	134920403	3	2	71	1	0	0	0	0	1	0	0	0	5174	1754	61	3	2264	3	EPHB1	3	134920403	Missense_Mutation	SNP	T	TCGA-BR-8296-01A-11D-2340-08	5767617	134920403	63102027	13	48802											
CLDN11	5010	broad.mit.edu	37	chr3	170150502	170150502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccgtttctactacactgcGggctctagctccccgactca	7	16	3	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr3:170150502G>A	uc003fgx.2	+	3	784	c.582G>A	c.(580-582)GCG>GCA	p.A194A	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fgy.2_Silent_p.A110A	NM_005602	NP_005593	O75508	CLD11_HUMAN	claudin 11	194	Cytoplasmic (Potential).			RFYYTAGSSSPTHAKSAHV -> VSTTLRALAPRLMRRVPT YKRAARLPTEVL (in Ref. 1; AAC25187).	calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(1)	1	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			ACTACACTGCGGGCTCTAGCT	0.612													A	170150502	G	A	170150502	2	1	71	1	0	0	0	0	0	0	0	1	3473	1103	39	1		1	CLDN11	3	170150502	Silent	SNP	G	TCGA-BR-8296-01A-11D-2340-08	35230099	170150502	27871928	14	48803											
ECT2	1894	broad.mit.edu	37	chr3	172486836	172486836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagtcttctaaaagctccaCtccagttccttcaaagcagt	5	12	3	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr3:172486836C>T	uc003fii.2	+	12	1376	c.1238C>T	c.(1237-1239)ACT>ATT	p.T413I	ECT2_uc010hwv.1_Missense_Mutation_p.T444I|ECT2_uc003fih.2_Missense_Mutation_p.T412I|ECT2_uc003fij.1_Missense_Mutation_p.T413I|ECT2_uc003fik.1_Missense_Mutation_p.T413I|ECT2_uc003fil.1_Missense_Mutation_p.T444I	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	413					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAAAGCTCCACTCCAGTTCCT	0.348													T	172486836	C	T	172486836	3	4	71	1	0	0	0	0	1	0	0	0	4901	565	20	4	1280	4	ECT2	3	172486836	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08	2336334	172486836	25535594	15	48804											
ATP13A5	344905	broad.mit.edu	37	chr3	193081122	193081122	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttacaggaaacttcagtgtgGataagtagaggcagaatacc	11	6	1	2	rs12637558	byFrequency	TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr3:193081122G>T	uc011bsq.1	-	3	287	c.287C>A	c.(286-288)TCC>TAC	p.S96Y		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	96					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.S96Y(1)		ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CTTCAGTGTGGATAAGTAGAG	0.398													T	193081122	G	T	193081122	3	4	71	1	0	0	0	0	1	0	0	0	1127	1174	41	5	3479	5	ATP13A5	3	193081122	Missense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08	20594286	193081122	4941308	16	48805											
EPHA5	2044	broad.mit.edu	37	chr4	66217148	66217148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatcatcttccagtacccGggaaagtccaaagtcagaca	10	11	3	1			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr4:66217148G>A	uc003hcy.2	-	14	2660	c.2467C>T	c.(2467-2469)CGG>TGG	p.R823W	EPHA5_uc003hcx.2_Missense_Mutation_p.R755W|EPHA5_uc003hcz.2_Missense_Mutation_p.R801W|EPHA5_uc011cah.1_Missense_Mutation_p.R824W|EPHA5_uc011cai.1_Missense_Mutation_p.R802W|EPHA5_uc003hda.2_Missense_Mutation_p.R824W	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	823	Cytoplasmic (Potential).|Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TCCAGTACCCGGGAAAGTCCA	0.433										TSP Lung(17;0.13)			A	66217148	G	A	66217148	3	1	71	1	0	0	0	0	1	0	0	0	5170	1115	39	1	666	1	EPHA5	4	66217148	Missense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08		66217148	124937128	17	48806											
RG9MTD2	93587	broad.mit.edu	37	chr4	100470352	100470352	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atattcctcctcactggaatCactgtccgatccaccttcct	4	16	2	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr4:100470352C>T	uc003huy.2	-	8	1226	c.913G>A	c.(913-915)GAT>AAT	p.D305N	RG9MTD2_uc003huz.3_Missense_Mutation_p.D305N|RG9MTD2_uc003hva.3_Missense_Mutation_p.D305N	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	RNA (guanine-9-) methyltransferase domain	305							methyltransferase activity			ovary(2)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		TCACTGGAATCACTGTCCGAT	0.463													T	100470352	C	T	100470352	3	4	71	1	0	0	0	0	1	0	0	0	13272	826	29	4	110	4	RG9MTD2	4	100470352	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08	34253204	100470352	90683924	18	48807											
PCDH10	57575	broad.mit.edu	37	chr4	134073378	134073378	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggggcgggagcggaggcggaGggtcaggagagcaccagcgc	23	9	1	1			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr4:134073378G>C	uc003iha.2	+	1	2909	c.2083G>C	c.(2083-2085)GGG>CGG	p.G695R	PCDH10_uc003igz.2_Missense_Mutation_p.G695R	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	695	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		cggaggcggaggGTCAGGAGA	0.577													C	134073378	G	C	134073378	3	2	71	1	0	0	0	0	1	0	0	0	11507	1000	35	5	2085	5	PCDH10	4	134073378	Missense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08	33603026	134073378	57080898	19	48808											
CTNND2	1501	broad.mit.edu	37	chr5	11364949	11364949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggggactgcagggcccGcaactctgggcccaggtgcc	15	14	2	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr5:11364949G>A	uc003jfa.1	-	8	1376	c.1231C>T	c.(1231-1233)CGG>TGG	p.R411W	CTNND2_uc010itt.2_Missense_Mutation_p.R320W|CTNND2_uc011cmy.1_Missense_Mutation_p.R74W|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	411	ARM 1.				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						TGCAGGGCCCGCAACTCTGGG	0.577													A	11364949	G	A	11364949	3	1	71	1	0	0	0	0	1	0	0	0	4020	1086	38	1	2506	1	CTNND2	5	11364949	Missense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08		11364949	169550311	20	48809											
F2R	2149	broad.mit.edu	37	chr5	76028449	76028449	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcatcctgaaaatgaaggtCaagaagccggcggtggtgta	13	7	2	3			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr5:76028449C>T	uc003ken.3	+	2	664	c.399C>T	c.(397-399)GTC>GTT	p.V133V		NM_001992	NP_001983	P25116	PAR1_HUMAN	coagulation factor II receptor precursor	133	Cytoplasmic (Potential).				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			ovary(3)	3		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	AAATGAAGGTCAAGAAGCCGG	0.512													T	76028449	C	T	76028449	2	4	71	1	0	0	0	0	0	0	0	1	5343	813	29	4		4	F2R	5	76028449	Silent	SNP	C	TCGA-BR-8296-01A-11D-2340-08	64663500	76028449	104886811	21	48810											
FKBP5	2289	broad.mit.edu	37	chr6	35586920	35586920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaatatccctctcctttcCgtttggttctccggataatg	7	11	2	1	rs140297532	byFrequency	TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr6:35586920C>T	uc011dte.1	-	5	664	c.461G>A	c.(460-462)CGG>CAG	p.R154Q	FKBP5_uc003okx.2_Missense_Mutation_p.R154Q|FKBP5_uc011dtf.1_Intron|FKBP5_uc003oky.2_Missense_Mutation_p.R154Q|FKBP5_uc003okz.2_Missense_Mutation_p.R154Q	NM_001145776	NP_001139248	Q13451	FKBP5_HUMAN	FK506 binding protein 5 isoform 1	154					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1						CTCTCCTTTCCGTTTGGTTCT	0.383													T	35586920	C	T	35586920	3	4	71	1	0	0	0	0	1	0	0	0	5911	652	23	1	998	1	FKBP5	6	35586920	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08		35586920	135528147	22	48811											
MCHR2	84539	broad.mit.edu	37	chr6	100382330	100382330	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatagcataaaattaaaatAtagcacaccaaaatcaaggg	6	6	1	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr6:100382330A>G	uc003pqh.1	-	5	966	c.651T>C	c.(649-651)TAT>TAC	p.Y217Y	MCHR2_uc003pqi.1_Silent_p.Y217Y	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	217	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAATTAAAATATAGCACACCA	0.259													G	100382330	A	G	100382330	2	3	71	1	0	0	0	0	0	0	0	1	9383	456	16	3		3	MCHR2	6	100382330	Silent	SNP	A	TCGA-BR-8296-01A-11D-2340-08	64795410	100382330	70732737	23	48812											
FAM162B	221303	broad.mit.edu	37	chr6	117083148	117083148	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagatactcacccttttggCtgacactatcacagcaaagc	8	12	2	2			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr6:117083148C>A	uc003pxi.2	-	3	529	c.382G>T	c.(382-384)GCC>TCC	p.A128S		NM_001085480	NP_001078949	Q5T6X4	F162B_HUMAN	hypothetical protein LOC221303	128						integral to membrane					0						ACCCTTTTGGCTGACACTATC	0.418													A	117083148	C	A	117083148	3	1	71	1	0	0	0	0	1	0	0	0	5475	797	28	5	114	5	FAM162B	6	117083148	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08	16700818	117083148	54031919	24	48813											
TULP4	56995	broad.mit.edu	37	chr6	158870124	158870124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagtcagacggtgtcctcGgcatgtcctggaactacccg	12	13	1	1	rs35262826	byFrequency	TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr6:158870124G>A	uc003qrf.2	+	4	1997	c.640G>A	c.(640-642)GGC>AGC	p.G214S	TULP4_uc011efo.1_Missense_Mutation_p.G214S|TULP4_uc003qrg.2_Missense_Mutation_p.G214S	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	214					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CGGTGTCCTCGGCATGTCCTG	0.602													A	158870124	G	A	158870124	3	1	71	1	0	0	0	0	1	0	0	0	16773	1116	39	1	654	1	TULP4	6	158870124	Missense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08	41786976	158870124	12244943	25	48814											
DLL1	28514	broad.mit.edu	37	chr6	170592399	170592399	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcacgcttgctgtgcgcGtccctgacggcggtgtcgtc	15	13	1	1	rs144070852		TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr6:170592399G>T	uc003qxm.2	-	9	2438	c.1968C>A	c.(1966-1968)GAC>GAA	p.D656E		NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	656	Cytoplasmic (Potential).				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TGCTGTGCGCGTCCCTGACGG	0.677													T	170592399	G	T	170592399	3	4	71	1	0	0	0	0	1	0	0	0	4566	1136	40	5	215	5	DLL1	6	170592399	Missense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08	11722275	170592399	522668	26	48815											
TMEM195	392636	broad.mit.edu	37	chr7	15584510	15584510	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtagttctcccagataTaaatataactggtcagttca	7	9	3	1			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr7:15584510T>A	uc003stb.1	-	3	466	c.296A>T	c.(295-297)TAT>TTT	p.Y99F		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	99					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0						CTCCCAGATATAAATATAACT	0.353													A	15584510	T	A	15584510	3	1	71	1	0	0	0	0	1	0	0	0	16114	1406	49	5	1085	5	TMEM195	7	15584510	Missense_Mutation	SNP	T	TCGA-BR-8296-01A-11D-2340-08		15584510	143554153	27	48816											
CAMK2B	816	broad.mit.edu	37	chr7	44259793	44259793	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcccgtcaatgtactgCgtgagccggatgtaagcgat	12	12	1	1	rs149916298	byFrequency	TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr7:44259793C>T	uc003tkq.2	-	23	2079	c.1869G>A	c.(1867-1869)ACG>ACA	p.T623T	CAMK2B_uc003tkp.2_Silent_p.T499T|CAMK2B_uc003tkx.2_Silent_p.T459T|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Silent_p.T475T|CAMK2B_uc003tks.2_Silent_p.T474T|CAMK2B_uc003tku.2_Silent_p.T460T|CAMK2B_uc003tkv.2_Silent_p.T436T|CAMK2B_uc003tkt.2_Silent_p.T449T|CAMK2B_uc003tkw.2_Silent_p.T406T|CAMK2B_uc010kyc.2_Silent_p.T499T|CAMK2B_uc003tkn.2_Silent_p.T256T	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II	623					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)|ovary(1)	2						CAATGTACTGCGTGAGCCGGA	0.637													T	44259793	C	T	44259793	2	4	71	1	0	0	0	0	0	0	0	1	2600	755	27	1		1	CAMK2B	7	44259793	Silent	SNP	C	TCGA-BR-8296-01A-11D-2340-08	28675283	44259793	114878870	28	48817											
ABCA13	154664	broad.mit.edu	37	chr7	48559747	48559747	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aatcagatcaaatatgacctGacccacaacttcggcattga	6	11	2	4			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr7:48559747G>C	uc003toq.2	+	53	13933	c.13908G>C	c.(13906-13908)CTG>CTC	p.L4636L	ABCA13_uc010kys.1_Silent_p.L1711L|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Silent_p.L366L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4636					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AATATGACCTGACCCACAACT	0.448													C	48559747	G	C	48559747	2	2	71	1	0	0	0	0	0	0	0	1	31	1277	45	5		5	ABCA13	7	48559747	Silent	SNP	G	TCGA-BR-8296-01A-11D-2340-08	4299954	48559747	110578916	29	48818											
SEMA3A	10371	broad.mit.edu	37	chr7	83614755	83614755	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atacataatgatagtacctgCttagtggaaagctccattgc	8	8	0	1			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr7:83614755C>G	uc003uhz.2	-	13	1806	c.1491G>C	c.(1489-1491)AAG>AAC	p.K497N		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	497	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						ATAGTACCTGCTTAGTGGAAA	0.313													G	83614755	C	G	83614755	3	3	71	1	0	0	0	0	1	0	0	0	14024	796	28	5	844	5	SEMA3A	7	83614755	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08	35055008	83614755	75523908	30	48819											
MTUS1	57509	broad.mit.edu	37	chr8	17601257	17601257	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgcctcaaaccgcaggagtCaggcttggatatattcctac	9	11	2	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr8:17601257C>T	uc003wxv.2	-	3	2617	c.2143G>A	c.(2143-2145)GAC>AAC	p.D715N	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.D715N|MTUS1_uc010lsz.2_Missense_Mutation_p.D715N	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	715						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		CCGCAGGAGTCAGGCTTGGAT	0.418													T	17601257	C	T	17601257	3	4	71	1	0	0	0	0	1	0	0	0	9965	826	29	4	2040	4	MTUS1	8	17601257	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08		17601257	128762765	31	48820											
PXDNL	137902	broad.mit.edu	37	chr8	52384808	52384808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccggcaggtgaagtagaCggtatttcctgatggtacct	13	10	0	3			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr8:52384808C>T	uc003xqu.3	-	8	852	c.751G>A	c.(751-753)GTC>ATC	p.V251I		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	251	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTGAAGTAGACGGTATTTCCT	0.433													T	52384808	C	T	52384808	3	4	71	1	0	0	0	0	1	0	0	0	12848	536	19	1	3704	1	PXDNL	8	52384808	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08	34783551	52384808	93979214	32	48821											
PREX2	80243	broad.mit.edu	37	chr8	69009347	69009347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacctggaatatggtgtcGtgtatgagtacgacagcaca	11	9	0	1			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr8:69009347G>A	uc003xxv.1	+	22	2491	c.2464G>A	c.(2464-2466)GTG>ATG	p.V822M	PREX2_uc003xxu.1_Missense_Mutation_p.V822M|PREX2_uc011lez.1_Missense_Mutation_p.V757M	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	822					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						ATATGGTGTCGTGTATGAGTA	0.463													A	69009347	G	A	69009347	3	1	71	1	0	0	0	0	1	0	0	0	12477	1145	40	1	2550	1	PREX2	8	69009347	Missense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08	16624539	69009347	77354675	33	48822											
FOXD4	2298	broad.mit.edu	37	chr9	117413	117414	+	Frame_Shift_Ins	INS	-	-	G													gactggctgcggcggggcagINSgggccccaagcagagggcct							TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr9:117412_117413A>AG	uc003zfz.3	-	0	1005_1006	c.707_708T>CT	c.(706-708)cctfs	p.P236fs		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	236	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCGGCGGGGCAGGGGCCCCAAG	0.728													G	117414	-	G	117413	7	5	71	1	0	1	1	0	0	0	0	0	5999	1000	35	0	616	0	FOXD4	9	117413	Frame_Shift_Ins	INS	-	TCGA-BR-8296-01A-11D-2340-08		117413	141096018	34	48823											
APBA1	320	broad.mit.edu	37	chr9	72132004	72132004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatagtgctgctgctgcggCggctgctgctgttcctcttc	12	13	1	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr9:72132004C>T	uc004ahh.2	-	2	399	c.123G>A	c.(121-123)CCG>CCA	p.P41P		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	41					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						GCTGCTGCGGCGGCTGCTGCT	0.716													T	72132004	C	T	72132004	2	4	71	1	0	0	0	0	0	0	0	1	756	755	27	1		1	APBA1	9	72132004	Silent	SNP	C	TCGA-BR-8296-01A-11D-2340-08	72014591	72132004	69081427	35	48824											
FLJ46321	389763	broad.mit.edu	37	chr9	84609979	84609979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatccaaaccccacttgcCggcgtcaggtcagcctggtg	10	16	2	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr9:84609979C>T	uc004amn.2	+	4	4641	c.4594C>T	c.(4594-4596)CGG>TGG	p.R1532W		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	1532						integral to membrane					0						CCCCACTTGCCGGCGTCAGGT	0.532													T	84609979	C	T	84609979	3	4	71	1	0	0	0	0	1	0	0	0	5932	643	23	1	4608	1	FLJ46321	9	84609979	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08	12477975	84609979	56603452	36	48825											
SLC2A6	11182	broad.mit.edu	37	chr9	136341384	136341384	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgtagagggacagggatccGaacactgccatgagctgggg	17	9	0	2			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr9:136341384G>A	uc004cee.2	-	4	632	c.537C>T	c.(535-537)TTC>TTT	p.F179F	SLC2A6_uc004cef.2_Silent_p.F179F|SLC2A6_uc004ceg.2_Silent_p.F179F|SLC2A6_uc011mdj.1_Silent_p.F179F	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose	179	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		ACAGGGATCCGAACACTGCCA	0.652													A	136341384	G	A	136341384	2	1	71	1	0	0	0	0	0	0	0	1	14549	1049	37	1		1	SLC2A6	9	136341384	Silent	SNP	G	TCGA-BR-8296-01A-11D-2340-08	51731405	136341384	4872047	37	48826											
GAD2	2572	broad.mit.edu	37	chr10	26581413	26581413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggactaccgggtttgaagCgcatgttgataaatgtttgg	15	5	0	2			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr10:26581413C>T	uc001isp.2	+	14	1909	c.1406C>T	c.(1405-1407)GCG>GTG	p.A469V	GAD2_uc001isq.2_Missense_Mutation_p.A469V	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	469					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Glutamic Acid(DB00142)	GGGTTTGAAGCGCATGTTGAT	0.448													T	26581413	C	T	26581413	3	4	71	1	0	0	0	0	1	0	0	0	6180	768	27	1	1460	1	GAD2	10	26581413	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08		26581413	108953334	38	48827											
PTCHD3	374308	broad.mit.edu	37	chr10	27688039	27688039	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtatataaggccaggatgttAgtgatggtggtgattgtaat	14	2	0	2			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr10:27688039A>T	uc001itu.2	-	4	1606	c.1488T>A	c.(1486-1488)ACT>ACA	p.T496T		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	496	SSD.|Helical; (Potential).				spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						CCAGGATGTTAGTGATGGTGG	0.398													T	27688039	A	T	27688039	2	4	71	1	0	0	0	0	0	0	0	1	12734	407	15	5		5	PTCHD3	10	27688039	Silent	SNP	A	TCGA-BR-8296-01A-11D-2340-08	1106626	27688039	107846708	39	48828											
CHAT	1103	broad.mit.edu	37	chr10	50835788	50835788	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attggcctgctgacgtctgaCgggaggagcgagtgggccga	18	9	1	2			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr10:50835788C>T	uc001jhz.2	+	7	1221	c.1068C>T	c.(1066-1068)GAC>GAT	p.D356D	CHAT_uc001jhv.1_Silent_p.D238D|CHAT_uc001jhx.1_Silent_p.D238D|CHAT_uc001jhy.1_Silent_p.D238D|CHAT_uc001jia.2_Silent_p.D238D|CHAT_uc010qgs.1_Silent_p.D238D	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	356					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TGACGTCTGACGGGAGGAGCG	0.582													T	50835788	C	T	50835788	2	4	71	1	0	0	0	0	0	0	0	1	3313	535	19	1		1	CHAT	10	50835788	Silent	SNP	C	TCGA-BR-8296-01A-11D-2340-08	23147749	50835788	84698959	40	48829											
RRP12	23223	broad.mit.edu	37	chr10	99141471	99141471	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctcagctaaagttgcagtaCcttgaggctctgcgtagcag	11	11	2	1			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr10:99141471C>G	uc001knf.2	-	11	1459	c.1320_splice	c.e11+1	p.K440_splice	RRP12_uc009xvm.2_Splice_Site_p.K158_splice|RRP12_uc010qou.1_Splice_Site_p.K379_splice|RRP12_uc009xvn.2_Splice_Site_p.K340_splice	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1							integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		AGTTGCAGTACCTTGAGGCTC	0.607													G	99141471	C	G	99141471	5	3	71	1	0	0	0	0	0	0	1	0	13686	521	18	5	2668	5	RRP12	10	99141471	Splice_Site	SNP	C	TCGA-BR-8296-01A-11D-2340-08	48305683	99141471	36393276	41	48830											
MRGPRX4	117196	broad.mit.edu	37	chr11	18194966	18194966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctctggctcctgggctacCgcatgcgcaggaacgctgtc	13	14	1	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr11:18194966C>T	uc001mnv.1	+	1	583	c.163C>T	c.(163-165)CGC>TGC	p.R55C		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	55	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						CCTGGGCTACCGCATGCGCAG	0.547													T	18194966	C	T	18194966	3	4	71	1	0	0	0	0	1	0	0	0	9769	652	23	1	165	1	MRGPRX4	11	18194966	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08		18194966	116811550	42	48831											
DCDC1	341019	broad.mit.edu	37	chr11	31327931	31327931	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttaaagaagagaactctgCaaccctgaagaaaaagaaaa	7	6	1	5			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr11:31327931C>A	uc001msv.2	-	5	641	c.439G>T	c.(439-441)GCA>TCA	p.A147S	DCDC1_uc001msu.1_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	147					intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					GAGAACTCTGCAACCCTGAAG	0.318													A	31327931	C	A	31327931	3	1	71	1	0	0	0	0	1	0	0	0	4284	710	25	5	645	5	DCDC1	11	31327931	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08	13132965	31327931	103678585	43	48832											
RIN1	9610	broad.mit.edu	37	chr11	66099763	66099763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagctactcctctgctgccCggcttccctctgcctctggt	8	18	3	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr11:66099763C>T	uc001ohn.1	-	10	2463	c.2336G>A	c.(2335-2337)CGG>CAG	p.R779Q	RIN1_uc010roy.1_Missense_Mutation_p.R410Q|RIN1_uc009yrd.1_Missense_Mutation_p.R472Q|RIN1_uc010roz.1_Missense_Mutation_p.R674Q|RIN1_uc010rpa.1_Missense_Mutation_p.R613Q	NM_004292	NP_004283	Q13671	RIN1_HUMAN	ras inhibitor RIN1	779					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			lung(2)|breast(1)	3						CTCTGCTGCCCGGCTTCCCTC	0.622													T	66099763	C	T	66099763	3	4	71	1	0	0	0	0	1	0	0	0	13371	652	23	1	19	1	RIN1	11	66099763	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08	34771832	66099763	68906753	44	48833											
DLG2	1740	broad.mit.edu	37	chr11	84634228	84634228	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgcaagccccacacacaCgatcctgggcatgtgctact	9	16	0	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr11:84634228C>T	uc001paj.2	-	1	238	c.-65G>A	c.(-67--63)TCGTG>TCATG		DLG2_uc010rsz.1_Translation_Start_Site|DLG2_uc010rta.1_Translation_Start_Site|DLG2_uc001pak.2_Intron|DLG2_uc001pal.1_Translation_Start_Site	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2							cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CCCACACACACGATCCTGGGC	0.458													T	84634228	C	T	84634228	1	4	71	1	0	0	0	0	0	0	0	0	4555	551	19	1		1	DLG2	11	84634228	Translation_Start_Site	SNP	C	TCGA-BR-8296-01A-11D-2340-08	18534465	84634228	50372288	45	48834											
CLDN25	644672	broad.mit.edu	37	chr11	113650730	113650730	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggcctttgaatccttcttGtctctgccccaggagctcca	8	14	2	1			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr11:113650730G>T	uc009yyw.1	+	1	213	c.213G>T	c.(211-213)TTG>TTT	p.L71F		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	claudin 25	71	Extracellular (Potential).					integral to membrane|tight junction	structural molecule activity				0						AATCCTTCTTGTCTCTGCCCC	0.567													T	113650730	G	T	113650730	3	4	71	1	0	0	0	0	1	0	0	0	3485	1368	48	5	215	5	CLDN25	11	113650730	Missense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08	29016502	113650730	21355786	46	48835											
OR10G9	219870	broad.mit.edu	37	chr11	123893746	123893746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaccagcctcgtgacagcGttcatcctcacgggccttcc	9	16	2	2			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr11:123893746G>A	uc010sad.1	+	1	27	c.27G>A	c.(25-27)GCG>GCA	p.A9A		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCGTGACAGCGTTCATCCTCA	0.542													A	123893746	G	A	123893746	2	1	71	1	0	0	0	0	0	0	0	1	10904	1132	40	1		1	OR10G9	11	123893746	Silent	SNP	G	TCGA-BR-8296-01A-11D-2340-08	10243016	123893746	11112770	47	48836											
NTN4	59277	broad.mit.edu	37	chr12	96077367	96077367	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agccccagtatcccaccatgCacctgtcacaacgtcgccct	6	19	1	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr12:96077367C>G	uc001tei.2	-	6	1750	c.1301G>C	c.(1300-1302)TGC>TCC	p.C434S	NTN4_uc009ztf.2_Missense_Mutation_p.C434S|NTN4_uc009ztg.2_Missense_Mutation_p.C397S	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	netrin 4 precursor	434	Laminin EGF-like 3.				axon guidance	basement membrane|plasma membrane				upper_aerodigestive_tract(1)|ovary(1)	2						TCCCACCATGCACCTGTCACA	0.597													G	96077367	C	G	96077367	3	3	71	1	0	0	0	0	1	0	0	0	10702	710	25	5	605	5	NTN4	12	96077367	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08		96077367	37774528	48	48837											
GAS2L3	283431	broad.mit.edu	37	chr12	101016092	101016092	+	Missense_Mutation	SNP	C	C	G													accctccttgtagttgttctCatcgattttctattgagtat							TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr12:101016092C>G	uc001thu.2	+	9	914	c.688C>G	c.(688-690)CAT>GAT	p.H230D	GAS2L3_uc009zty.2_Missense_Mutation_p.H230D|GAS2L3_uc001thv.2_Missense_Mutation_p.H126D	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	230	GAR.				cell cycle arrest					skin(1)	1						TAGTTGTTCTCATCGATTTTC	0.323													G	101016092	C	G	101016092	3	3	71	1	0	0	0	0	1	0	0	0	6248	826	29	5	714	5	GAS2L3	12	101016092	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08	4938725	101016092	32835803	49	48838	187	2	1	21		5	4	2266	N	C	4.27266e-08
GAS2L3	283431	broad.mit.edu	37	chr12	101016095	101016095	+	Nonsense_Mutation	SNP	C	C	T													ctccttgtagttgttctcatCgattttctattgagtattta							TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr12:101016095C>T	uc001thu.2	+	9	917	c.691C>T	c.(691-693)CGA>TGA	p.R231*	GAS2L3_uc009zty.2_Nonsense_Mutation_p.R231*|GAS2L3_uc001thv.2_Nonsense_Mutation_p.R127*	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	231	GAR.				cell cycle arrest					skin(1)	1						TTGTTCTCATCGATTTTCTAT	0.318													T	101016095	C	T	101016095	4	4	71	1	0	0	0	0	0	1	0	0	6248	876	31	1	717	1	GAS2L3	12	101016095	Nonsense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08	3	101016095	32835800	50	48839	187	2	1	21		5	4	2266	N	C	4.27266e-08
GAS2L3	283431	broad.mit.edu	37	chr12	101017925	101017925	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cccccaaggccaaggttattCcagcccagaattcagcagat	8	14	1	2			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr12:101017925C>G	uc001thu.2	+	10	1568	c.1342C>G	c.(1342-1344)CCA>GCA	p.P448A	GAS2L3_uc009zty.2_Missense_Mutation_p.P448A|GAS2L3_uc001thv.2_Missense_Mutation_p.P344A	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	448					cell cycle arrest					skin(1)	1						CAAGGTTATTCCAGCCCAGAA	0.413													G	101017925	C	G	101017925	3	3	71	1	0	0	0	0	1	0	0	0	6248	855	30	5	1372	5	GAS2L3	12	101017925	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08	1830	101017925	32833970	51	48840			1	21		5	4	2266	N	C	4.27266e-08
GAS2L3	283431	broad.mit.edu	37	chr12	101018070	101018070	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agctgcacattcaaattcatCctcaaaatgtcccaagctgc	5	13	3	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr12:101018070C>A	uc001thu.2	+	10	1713	c.1487C>A	c.(1486-1488)TCC>TAC	p.S496Y	GAS2L3_uc009zty.2_Missense_Mutation_p.S496Y|GAS2L3_uc001thv.2_Missense_Mutation_p.S392Y	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	496					cell cycle arrest					skin(1)	1						TCAAATTCATCCTCAAAATGT	0.353													A	101018070	C	A	101018070	3	1	71	1	0	0	0	0	1	0	0	0	6248	855	30	5	1517	5	GAS2L3	12	101018070	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08	145	101018070	32833825	52	48841			1	21		5	4	2266	N	C	4.27266e-08
GAS2L3	283431	broad.mit.edu	37	chr12	101018357	101018357	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagctaccaaaaagcagcctCagaataaaagtgcatttcag	7	10	2	1			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr12:101018357C>G	uc001thu.2	+	10	2000	c.1774C>G	c.(1774-1776)CAG>GAG	p.Q592E	GAS2L3_uc009zty.2_Missense_Mutation_p.Q592E|GAS2L3_uc001thv.2_Missense_Mutation_p.Q488E	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	592					cell cycle arrest					skin(1)	1						AAAGCAGCCTCAGAATAAAAG	0.443													G	101018357	C	G	101018357	3	3	71	1	0	0	0	0	1	0	0	0	6248	827	29	5	1804	5	GAS2L3	12	101018357	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08	287	101018357	32833538	53	48842			1	21		5	4	2266	N	C	4.27266e-08
GPR109A	338442	broad.mit.edu	37	chr12	123187315	123187315	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcacaaatttgcaccGccattctggatcggcatctt	8	13	2	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr12:123187315G>A	uc001ucx.1	-	1	590	c.516C>T	c.(514-516)GGC>GGT	p.G172G	GPR81_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	G protein-coupled receptor 109A	172	Extracellular (Potential).				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	AATTTGCACCGCCATTCTGGA	0.542													A	123187315	G	A	123187315	2	1	71	1	0	0	0	0	0	0	0	1	6625	1074	38	1		1	GPR109A	12	123187315	Silent	SNP	G	TCGA-BR-8296-01A-11D-2340-08	22168958	123187315	10664580	54	48843											
N4BP2L2	10443	broad.mit.edu	37	chr13	33016759	33016759	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aggatgactatgtaaaatttCtggagaaataaaccctgcat	8	6	1	2			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr13:33016759C>G	uc010abe.1	-	7	1937	c.1915G>C	c.(1915-1917)GAA>CAA	p.E639Q	N4BP2L2_uc001uug.2_Missense_Mutation_p.E522Q|N4BP2L2_uc010abd.1_Missense_Mutation_p.E552Q|N4BP2L2_uc001uuh.2_Missense_Mutation_p.E470Q|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Missense_Mutation_p.E624Q	NM_033111	NP_149102	Q92802	N42L2_HUMAN	phosphonoformate immuno-associated protein 5	Error:Variant_position_missing_in_Q92802_after_alignment											0		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TGTAAAATTTCTGGAGAAATA	0.338													G	33016759	C	G	33016759	3	3	71	1	0	0	0	0	1	0	0	0	10112	922	32	5	355	5	N4BP2L2	13	33016759	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08		33016759	82153119	55	48844											
GPC5	2262	broad.mit.edu	37	chr13	92101163	92101163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctaatatctcgaaatgcGgctgcttttcaaggtaagtg	9	7	3	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr13:92101163G>A	uc010tif.1	+	2	678	c.312G>A	c.(310-312)GCG>GCA	p.A104A		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	104						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CTCGAAATGCGGCTGCTTTTC	0.438													A	92101163	G	A	92101163	2	1	71	1	0	0	0	0	0	0	0	1	6601	1103	39	1		1	GPC5	13	92101163	Silent	SNP	G	TCGA-BR-8296-01A-11D-2340-08	59084404	92101163	23068715	56	48845											
RASA3	22821	broad.mit.edu	37	chr13	114806557	114806557	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttctgcaagtcctccttctgGatggccaccttccctgcaac	7	16	2	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr13:114806557G>C	uc001vui.2	-	4	422	c.291C>G	c.(289-291)ATC>ATG	p.I97M	RASA3_uc010tkk.1_Missense_Mutation_p.I65M|RASA3_uc001vuj.2_Translation_Start_Site|RASA3_uc010tkl.1_Intron	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	97					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CCTCCTTCTGGATGGCCACCT	0.612													C	114806557	G	C	114806557	3	2	71	1	0	0	0	0	1	0	0	0	13062	1164	41	5	2297	5	RASA3	13	114806557	Missense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08	22705394	114806557	363321	57	48846											
PRKD1	5587	broad.mit.edu	37	chr14	30100211	30100211	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggttccagagacaaaattTcagataaaggaatttcctgt	8	7	1	2			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr14:30100211T>C	uc001wqh.2	-	10	1590	c.1409A>G	c.(1408-1410)GAA>GGA	p.E470G		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	470	PH.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AGACAAAATTTCAGATAAAGG	0.318													C	30100211	T	C	30100211	3	2	71	1	0	0	0	0	1	0	0	0	12518	1783	62	3	1365	3	PRKD1	14	30100211	Missense_Mutation	SNP	T	TCGA-BR-8296-01A-11D-2340-08		30100211	77249329	58	48847											
ARF6	382	broad.mit.edu	37	chr14	50360781	50360781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaccgcattatcaatgaCcgggagatgagggacgccat	12	11	1	3	rs117373659	by1000genomes	TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr14:50360781C>T	uc001wxg.3	+	2	948	c.327C>T	c.(325-327)GAC>GAT	p.D109D		NM_001663	NP_001654	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	109					cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport	cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle	GTP binding|GTPase activity|thioesterase binding				0	all_epithelial(31;0.000822)|Breast(41;0.0117)					TTATCAATGACCGGGAGATGA	0.582													T	50360781	C	T	50360781	2	4	71	1	0	0	0	0	0	0	0	1	848	506	18	4		4	ARF6	14	50360781	Silent	SNP	C	TCGA-BR-8296-01A-11D-2340-08	20260570	50360781	56988759	59	48848											
PAPLN	89932	broad.mit.edu	37	chr14	73730411	73730411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccctggggcagttggtgCggctctcctgctcagacgac	14	14	2	1	rs139258651	byFrequency	TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr14:73730411C>T	uc010ttx.1	+	19	2945	c.2782C>T	c.(2782-2784)CGG>TGG	p.R928W	PAPLN_uc001xnw.3_Missense_Mutation_p.R901W|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.R912W|PAPLN_uc010arm.2_Missense_Mutation_p.R127W|PAPLN_uc010arn.2_Missense_Mutation_p.R128W	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	928	Ig-like C2-type 1.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCAGTTGGTGCGGCTCTCCTG	0.637													T	73730411	C	T	73730411	3	4	71	1	0	0	0	0	1	0	0	0	11428	759	27	1	2771	1	PAPLN	14	73730411	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08	23369630	73730411	33619129	60	48849											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1808983	1808983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggacggctccctagtgcgCgatgatttctttggtaaggc	15	9	1	1			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr16:1808983C>T	uc002cmk.2	+	10	1350	c.1230C>T	c.(1228-1230)CGC>CGT	p.R410R	MAPK8IP3_uc002cml.2_Intron|MAPK8IP3_uc010uvl.1_Silent_p.R411R	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	410					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						CCCTAGTGCGCGATGATTTCT	0.602													T	1808983	C	T	1808983	2	4	71	1	0	0	0	0	0	0	0	1	9286	755	27	1		1	MAPK8IP3	16	1808983	Silent	SNP	C	TCGA-BR-8296-01A-11D-2340-08		1808983	88545770	61	48850											
ABCC1	4363	broad.mit.edu	37	chr16	16126992	16126992	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcccagagtccagcgcttcCttcctgtcgaggatcacctt	9	15	1	1			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr16:16126992C>A	uc010bvi.2	+	6	817	c.642C>A	c.(640-642)TCC>TCA	p.S214S	ABCC1_uc010bvj.2_Silent_p.S214S|ABCC1_uc010bvk.2_Silent_p.S214S|ABCC1_uc010bvl.2_Silent_p.S214S|ABCC1_uc010bvm.2_Silent_p.S214S|ABCC1_uc002del.3_Silent_p.S98S|ABCC1_uc010bvn.2_Silent_p.S77S	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	214	Cytoplasmic.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCAGCGCTTCCTTCCTGTCGA	0.478													A	16126992	C	A	16126992	2	1	71	1	0	0	0	0	0	0	0	1	49	668	24	5		5	ABCC1	16	16126992	Silent	SNP	C	TCGA-BR-8296-01A-11D-2340-08	14318009	16126992	74227761	62	48851											
SPN	6693	broad.mit.edu	37	chr16	29675436	29675436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactctctaggatcccacacCgtgacaggtggaaccataac	8	13	1	1	rs139180392	byFrequency	TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr16:29675436C>T	uc002dtm.2	+	2	523	c.387C>T	c.(385-387)ACC>ACT	p.T129T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Silent_p.T129T|SPN_uc010bzd.2_RNA	NM_001030288	NP_001025459	P16150	LEUK_HUMAN	sialophorin precursor	129	Extracellular (Potential).				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)	2						GATCCCACACCGTGACAGGTG	0.532													T	29675436	C	T	29675436	2	4	71	1	0	0	0	0	0	0	0	1	15072	639	23	1		1	SPN	16	29675436	Silent	SNP	C	TCGA-BR-8296-01A-11D-2340-08	13548444	29675436	60679317	63	48852											
MYBBP1A	10514	broad.mit.edu	37	chr17	4457494	4457494	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggccccactctcaccttcTtcacctgatgcaggtcatat	6	16	4	1			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr17:4457494T>C	uc002fyb.3	-	3	436	c.374A>G	c.(373-375)AAG>AGG	p.K125R	MYBBP1A_uc002fxz.3_Missense_Mutation_p.K125R	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	125	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						TCTCACCTTCTTCACCTGATG	0.567													C	4457494	T	C	4457494	3	2	71	1	0	0	0	0	1	0	0	0	10008	1609	56	3	3748	3	MYBBP1A	17	4457494	Missense_Mutation	SNP	T	TCGA-BR-8296-01A-11D-2340-08		4457494	76737716	64	48853											
TP53	7157	broad.mit.edu	37	chr17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcccatgcaggaactgttaCacatgtagttgtagtggatg	12	8	0	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr17:7577568C>A	uc002gim.2	-	7	907	c.713G>T	c.(712-714)TGT>TTT	p.C238F	TP53_uc002gig.1_Missense_Mutation_p.C238F|TP53_uc002gih.2_Missense_Mutation_p.C238F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C106F|TP53_uc010cng.1_Missense_Mutation_p.C106F|TP53_uc002gii.1_Missense_Mutation_p.C106F|TP53_uc010cnh.1_Missense_Mutation_p.C238F|TP53_uc010cni.1_Missense_Mutation_p.C238F|TP53_uc002gij.2_Missense_Mutation_p.C238F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C145F|TP53_uc002gio.2_Missense_Mutation_p.C106F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	238	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C238Y(47)|p.C238F(34)|p.C238S(18)|p.C238R(14)|p.0?(7)|p.C238*(4)|p.C238W(2)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.C238fs*9(1)|p.M237_N239delMCN(1)|p.C238fs*21(1)|p.C238del(1)|p.C238G(1)|p.C238C(1)|p.M237fs*1(1)|p.C145F(1)|p.H233fs*6(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.M237_C238insX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGAACTGTTACACATGTAGTT	0.572		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7577568	C	A	7577568	3	1	71	1	0	0	0	0	1	0	0	0	16378	478	17	5	577	5	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08	3120074	7577568	73617642	65	48854											
MYH1	4619	broad.mit.edu	37	chr17	10417440	10417440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccctgcgccagattctcCgctgtcaaagaccaaacgta	7	15	2	2			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr17:10417440C>T	uc002gmo.2	-	7	629	c.535G>A	c.(535-537)GGA>AGA	p.G179R	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	179	Myosin head-like.|ATP (Potential).					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						CCAGATTCTCCGCTGTCAAAG	0.418													T	10417440	C	T	10417440	3	4	71	1	0	0	0	0	1	0	0	0	10029	666	23	1	5420	1	MYH1	17	10417440	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08	2839872	10417440	70777770	66	48855											
POLG2	11232	broad.mit.edu	37	chr17	62488810	62488810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccactggagtcgatgacGtaaccagaaatcaagccact	8	13	1	2			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr17:62488810G>A	uc002jei.2	-	3	852	c.769C>T	c.(769-771)CGT>TGT	p.R257C	POLG2_uc010deg.1_Missense_Mutation_p.R257C	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	DNA polymerase subunit gamma-2, mitochondrial	257					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)	1	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			AGTCGATGACGTAACCAGAAA	0.358													A	62488810	G	A	62488810	3	1	71	1	0	0	0	0	1	0	0	0	12201	1145	40	1	712	1	POLG2	17	62488810	Missense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08	52071370	62488810	18706400	67	48856											
APOH	350	broad.mit.edu	37	chr17	64212961	64212961	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtacattctatttcttcCgggccatccagagaatatcc	7	11	2	1			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr17:64212961C>T	uc002jfn.3	-	6	788	c.729G>A	c.(727-729)CCG>CCA	p.P243P		NM_000042	NP_000033	P02749	APOH_HUMAN	apolipoprotein H precursor	243	Sushi 4.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding				0			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CTATTTCTTCCGGGCCATCCA	0.423													T	64212961	C	T	64212961	2	4	71	1	0	0	0	0	0	0	0	1	804	639	23	1		1	APOH	17	64212961	Silent	SNP	C	TCGA-BR-8296-01A-11D-2340-08	1724151	64212961	16982249	68	48857											
KCNJ16	3773	broad.mit.edu	37	chr17	68128638	68128638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccataggatatggttatcGctgtgttactgaagaatgtt	10	6	0	2	rs144258139		TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr17:68128638G>A	uc002jin.2	+	5	896	c.410G>A	c.(409-411)CGC>CAC	p.R137H	KCNJ16_uc002jio.2_Missense_Mutation_p.R137H|KCNJ16_uc002jip.2_Missense_Mutation_p.R137H|KCNJ16_uc002jiq.2_Missense_Mutation_p.R169H	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel J16	137	Extracellular (By similarity).				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Breast(10;2.96e-09)					TATGGTTATCGCTGTGTTACT	0.458													A	68128638	G	A	68128638	3	1	71	1	0	0	0	0	1	0	0	0	8050	1087	38	1	412	1	KCNJ16	17	68128638	Missense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08	3915677	68128638	13066572	69	48858											
SETBP1	26040	broad.mit.edu	37	chr18	42532485	42532485	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccttacacatcaatgcctatGatgaaccttggttattacgg	7	10	1	2			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr18:42532485G>A	uc010dni.2	+	4	3476	c.3180G>A	c.(3178-3180)ATG>ATA	p.M1060I		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1060						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAATGCCTATGATGAACCTTG	0.488									Schinzel-Giedion_syndrome				A	42532485	G	A	42532485	3	1	71	1	0	0	0	0	1	0	0	0	14129	1290	45	4	3383	4	SETBP1	18	42532485	Missense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08		42532485	35544763	70	48859											
CDH20	28316	broad.mit.edu	37	chr18	59221564	59221564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgaggccttcgacatcgCggccatgtggaacccccggg	13	16	0	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr18:59221564C>T	uc010dps.1	+	11	2054	c.2042C>T	c.(2041-2043)GCG>GTG	p.A681V	CDH20_uc002lif.2_Missense_Mutation_p.A675V	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	681	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				TTCGACATCGCGGCCATGTGG	0.667													T	59221564	C	T	59221564	3	4	71	1	0	0	0	0	1	0	0	0	3106	768	27	1	2084	1	CDH20	18	59221564	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08	16689079	59221564	18855684	71	48860											
RDH8	50700	broad.mit.edu	37	chr19	10132297	10132297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgaccacgctcaaaaccGtggattcctctggcagcctg	10	15	2	1			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr19:10132297G>A	uc002mmr.2	+	6	1057	c.808G>A	c.(808-810)GTG>ATG	p.V270M		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	270					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(3)|pancreas(1)	4			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GCTCAAAACCGTGGATTCCTC	0.607													A	10132297	G	A	10132297	3	1	71	1	0	0	0	0	1	0	0	0	13196	1145	40	1	830	1	RDH8	19	10132297	Missense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08		10132297	48996686	72	48861											
CYP4F22	126410	broad.mit.edu	37	chr19	15651382	15651382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcggatgggcggaggttcCggcaggcctgtgacatggtg	20	9	0	1	rs144569785		TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr19:15651382C>T	uc002nbh.3	+	8	960	c.793C>T	c.(793-795)CGG>TGG	p.R265W		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	265						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2						GCGGAGGTTCCGGCAGGCCTG	0.617													T	15651382	C	T	15651382	3	4	71	1	0	0	0	0	1	0	0	0	4189	643	23	1	815	1	CYP4F22	19	15651382	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08	5519085	15651382	43477601	73	48862											
NLRP12	91662	broad.mit.edu	37	chr19	54314031	54314031	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgagctcatcgaagccGtcgatgatgaaaaggaggcg	15	8	1	3	rs147080557	by1000genomes	TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr19:54314031G>A	uc002qch.3	-	3	1102	c.882C>T	c.(880-882)GAC>GAT	p.D294D	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.D294D|NLRP12_uc002qcj.3_Silent_p.D294D|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.D294D	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	294	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CATCGAAGCCGTCGATGATGA	0.582													A	54314031	G	A	54314031	2	1	71	1	0	0	0	0	0	0	0	1	10474	1136	40	1		1	NLRP12	19	54314031	Silent	SNP	G	TCGA-BR-8296-01A-11D-2340-08	38662649	54314031	4814952	74	48863											
LILRB5	10990	broad.mit.edu	37	chr19	54758651	54758651	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tggacagcaggtaggggtagGacctgattgcgctgtagcat	16	7	0	1			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr19:54758651G>C	uc002qex.2	-	6	1313	c.1202C>G	c.(1201-1203)TCC>TGC	p.S401C	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.S392C|LILRB5_uc002qey.2_Missense_Mutation_p.S401C|LILRB5_uc002qez.2_Missense_Mutation_p.S301C|LILRB5_uc002qfa.1_Missense_Mutation_p.S291C|LILRB5_uc010yes.1_RNA	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	401	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTAGGGGTAGGACCTGATTGC	0.567													C	54758651	G	C	54758651	3	2	71	1	0	0	0	0	1	0	0	0	8794	1174	41	5	605	5	LILRB5	19	54758651	Missense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08	444620	54758651	4370332	75	48864											
TTYH1	57348	broad.mit.edu	37	chr19	54932467	54932467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcactggcattggcatcGgtttctatggcaacagtgag	12	9	2	1			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr19:54932467G>A	uc002qfq.2	+	3	414	c.322G>A	c.(322-324)GGT>AGT	p.G108S	TTYH1_uc010yey.1_Missense_Mutation_p.G157S|TTYH1_uc002qfr.2_Missense_Mutation_p.G108S|TTYH1_uc002qft.2_Missense_Mutation_p.G108S|TTYH1_uc002qfu.1_Missense_Mutation_p.G23S	NM_020659	NP_065710	Q9H313	TTYH1_HUMAN	tweety 1 isoform 1	108	Helical; Name=2; (Potential).				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CATTGGCATCGGTTTCTATGG	0.642													A	54932467	G	A	54932467	3	1	71	1	0	0	0	0	1	0	0	0	16736	1116	39	1	332	1	TTYH1	19	54932467	Missense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08	173816	54932467	4196516	76	48865											
KIAA0406	9675	broad.mit.edu	37	chr20	36627656	36627656	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacgagcgagggccaggcCtgatgagccaagggaagcag	17	9	0	3			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr20:36627656C>T	uc002xhl.2	-	6	2936	c.2727G>A	c.(2725-2727)CAG>CAA	p.Q909Q	KIAA0406_uc002xhm.2_Silent_p.Q909Q	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	909							binding				0		Myeloproliferative disorder(115;0.00874)				AGGGCCAGGCCTGATGAGCCA	0.557													T	36627656	C	T	36627656	2	4	71	1	0	0	0	0	0	0	0	1	8173	680	24	4		4	KIAA0406	20	36627656	Silent	SNP	C	TCGA-BR-8296-01A-11D-2340-08		36627656	26397864	77	48866											
ZHX3	23051	broad.mit.edu	37	chr20	39833134	39833134	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattgtctggcttggccacGttccacacaaagctggcttc	10	12	1	1	rs113667928	byFrequency	TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr20:39833134G>A	uc002xjs.1	-	3	801	c.423C>T	c.(421-423)AAC>AAT	p.N141N	ZHX3_uc002xjq.1_Silent_p.N141N|ZHX3_uc002xjr.1_Silent_p.N141N|ZHX3_uc002xjt.1_Silent_p.N141N|ZHX3_uc002xju.1_Silent_p.N141N|ZHX3_uc002xjv.1_Silent_p.N141N|ZHX3_uc002xjw.1_Silent_p.N141N|ZHX3_uc010ggg.1_Silent_p.N141N	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	141					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				GCTTGGCCACGTTCCACACAA	0.567													A	39833134	G	A	39833134	2	1	71	1	0	0	0	0	0	0	0	1	17674	1136	40	1		1	ZHX3	20	39833134	Silent	SNP	G	TCGA-BR-8296-01A-11D-2340-08	3205478	39833134	23192386	78	48867											
TOM1	10043	broad.mit.edu	37	chr22	35719519	35719519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgcgttccgcagctcgcccGatctgacaggtgtggtcacc	12	15	2	1			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chr22:35719519G>A	uc003ann.2	+	5	522	c.397G>A	c.(397-399)GAT>AAT	p.D133N	TOM1_uc011ami.1_Missense_Mutation_p.D100N|TOM1_uc011amj.1_5'UTR|TOM1_uc003ans.2_5'UTR|TOM1_uc011amk.1_Missense_Mutation_p.D95N|TOM1_uc003anp.2_Missense_Mutation_p.D133N|TOM1_uc011aml.1_Intron|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Missense_Mutation_p.D127N|TOM1_uc003anr.2_5'UTR	NM_005488	NP_005479	O60784	TOM1_HUMAN	target of myb1 isoform 1	133	VHS.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			ovary(1)	1						CAGCTCGCCCGATCTGACAGG	0.617													A	35719519	G	A	35719519	3	1	71	1	0	0	0	0	1	0	0	0	16348	1058	37	1	415	1	TOM1	22	35719519	Missense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08		35719519	15585047	79	48868											
ZNF182	7569	broad.mit.edu	37	chrX	47836536	47836536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacattcattacattcataaGgtttttctcctgtgtgagtc	6	9	3	1			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chrX:47836536G>A	uc004dir.2	-	7	1296	c.950C>T	c.(949-951)CCT>CTT	p.P317L	ZNF182_uc004dis.2_Missense_Mutation_p.P298L|ZNF182_uc004dit.2_Missense_Mutation_p.P317L|ZNF182_uc011mlu.1_Missense_Mutation_p.P297L	NM_006962	NP_008893	P17025	ZN182_HUMAN	zinc finger protein 21 isoform 1	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3						ACATTCATAAGGTTTTTCTCC	0.413													A	47836536	G	A	47836536	3	1	71	1	0	0	0	0	1	0	0	0	17747	1000	35	4	973	4	ZNF182	23	47836536	Missense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08		47836536	107434024	80	48869											
HUWE1	10075	broad.mit.edu	37	chrX	53576261	53576261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctcactctcactgctgcGctgcaagatggagagcagac	11	12	2	3			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chrX:53576261G>A	uc004dsp.2	-	67	10096	c.9694C>T	c.(9694-9696)CGC>TGC	p.R3232C	HUWE1_uc004dsn.2_Missense_Mutation_p.R2040C	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3232					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						TCACTGCTGCGCTGCAAGATG	0.512													A	53576261	G	A	53576261	3	1	71	1	0	0	0	0	1	0	0	0	7461	1087	38	1	3502	1	HUWE1	23	53576261	Missense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08	5739725	53576261	101694299	81	48870											
USP51	158880	broad.mit.edu	37	chrX	55515254	55515254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcgtagcccccgccgccGcctcctccattttccccgcc	6	24	0	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chrX:55515254G>A	uc004dun.1	-	2	198	c.119C>T	c.(118-120)GCG>GTG	p.A40V	USP51_uc011moo.1_5'Flank	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	40					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						CCCCGCCGCCGCCTCCTCCAT	0.647													A	55515254	G	A	55515254	3	1	71	1	0	0	0	0	1	0	0	0	17080	1087	38	1	2020	1	USP51	23	55515254	Missense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08	1938993	55515254	99755306	82	48871											
CAPN6	827	broad.mit.edu	37	chrX	110494255	110494255	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgattccagctcctttcGgccaaaaatagggttgttca	8	12	1	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chrX:110494255G>A	uc004epc.1	-	8	1216	c.1048C>T	c.(1048-1050)CGA>TGA	p.R350*	CAPN6_uc011msu.1_Nonsense_Mutation_p.R95*	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	350	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						AGCTCCTTTCGGCCAAAAATA	0.498													A	110494255	G	A	110494255	4	1	71	1	0	0	0	0	0	1	0	0	2630	1124	39	1	901	1	CAPN6	23	110494255	Nonsense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08	54979001	110494255	44776305	83	48872											
STAG2	10735	broad.mit.edu	37	chrX	123220506	123220506	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgctagctggtggtgatgatGacaccatgtcagtcattagt	12	7	2	3			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chrX:123220506G>A	uc004etz.3	+	29	3502	c.3163G>A	c.(3163-3165)GAC>AAC	p.D1055N	STAG2_uc004eua.2_Missense_Mutation_p.D1055N|STAG2_uc004eub.2_Missense_Mutation_p.D1055N|STAG2_uc004euc.2_Missense_Mutation_p.D1055N|STAG2_uc004eud.2_Missense_Mutation_p.D1055N|STAG2_uc004eue.2_Missense_Mutation_p.D1055N	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	1055					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						TGGTGATGATGACACCATGTC	0.458													A	123220506	G	A	123220506	3	1	71	1	0	0	0	0	1	0	0	0	15242	1290	45	4	3273	4	STAG2	23	123220506	Missense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08	12726251	123220506	32050054	84	48873											
VGLL1	51442	broad.mit.edu	37	chrX	135631089	135631089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtcctcaggaatctgccGccagggagaatggcaaccct	11	15	2	1			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chrX:135631089G>A	uc004ezy.2	+	3	726	c.556G>A	c.(556-558)GCC>ACC	p.A186T	MIR934_hsa-mir-934|MI0005756_5'Flank	NM_016267	NP_057351	Q99990	VGLL1_HUMAN	vestigial like 1	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity				0	Acute lymphoblastic leukemia(192;0.000127)					GGAATCTGCCGCCAGGGAGAA	0.577													A	135631089	G	A	135631089	3	1	71	1	0	0	0	0	1	0	0	0	17155	1087	38	1	562	1	VGLL1	23	135631089	Missense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08	12410583	135631089	19639471	85	48874											
SLITRK2	84631	broad.mit.edu	37	chrX	144905642	144905642	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctcctgctaagcatgcagggGagatactaaaatttctgggg	12	8	1	1			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chrX:144905642G>C	uc004fcd.2	+	5	2689	c.1699G>C	c.(1699-1701)GAG>CAG	p.E567Q	SLITRK2_uc010nsp.2_Missense_Mutation_p.E567Q|SLITRK2_uc010nso.2_Missense_Mutation_p.E567Q|SLITRK2_uc011mwq.1_Missense_Mutation_p.E567Q|SLITRK2_uc011mwr.1_Missense_Mutation_p.E567Q|SLITRK2_uc011mws.1_Missense_Mutation_p.E567Q|SLITRK2_uc004fcg.2_Missense_Mutation_p.E567Q|SLITRK2_uc011mwt.1_Missense_Mutation_p.E567Q	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	567	Extracellular (Potential).|LRRCT 2.					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					GCATGCAGGGGAGATACTAAA	0.478													C	144905642	G	C	144905642	3	2	71	1	0	0	0	0	1	0	0	0	14743	1175	41	5	1701	5	SLITRK2	23	144905642	Missense_Mutation	SNP	G	TCGA-BR-8296-01A-11D-2340-08	9274553	144905642	10364918	86	48875											
MTMR1	8776	broad.mit.edu	37	chrX	149905805	149905805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgacggttgggaccgaaCagcccagctcacatctctgg	12	14	2	0			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chrX:149905805C>T	uc004fei.2	+	11	1469	c.1334C>T	c.(1333-1335)ACA>ATA	p.T445I	MTMR1_uc011mya.1_Missense_Mutation_p.T351I|MTMR1_uc004feh.1_Missense_Mutation_p.T453I|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_RNA	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	445	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGACCGAACAGCCCAGCTC	0.453													T	149905805	C	T	149905805	3	4	71	1	0	0	0	0	1	0	0	0	9938	478	17	4	1376	4	MTMR1	23	149905805	Missense_Mutation	SNP	C	TCGA-BR-8296-01A-11D-2340-08	5000163	149905805	5364755	87	48876											
ATP2B3	492	broad.mit.edu	37	chrX	152845624	152845624	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgggcccccccgcccccGtcccccaaccagaacaacaa	6	24	0	1			TCGA-BR-8296-01A-11D-2340-08	TCGA-BR-8296-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c0f192-0cd5-4a42-98e9-da539ffbdb8e	97c72465-c307-4e73-8a74-9d5c6da3680e	g.chrX:152845624G>A	uc004fht.1	+	20	3657	c.3531G>A	c.(3529-3531)CCG>CCA	p.P1177P	ATP2B3_uc004fhs.1_3'UTR|ATP2B3_uc010nuf.1_Silent_p.P314P|ATP2B3_uc004fhu.1_Silent_p.P129P	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	1177	Cytoplasmic (Potential).|Poly-Pro.				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCGCCCCCGTCCCCCAACC	0.602													A	152845624	G	A	152845624	2	1	71	1	0	0	0	0	0	0	0	1	1141	1132	40	1		1	ATP2B3	23	152845624	Silent	SNP	G	TCGA-BR-8296-01A-11D-2340-08	2939819	152845624	2424936	88	48877											
UBE2J2	118424	broad.mit.edu	37	chr1	1203290	1203290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcacagatgtaaggcaccGggtctttcttaatgcgaagg	13	9	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:1203290G>A	uc001adn.2	-	2	393	c.83C>T	c.(82-84)CCG>CTG	p.P28L	UBE2J2_uc001adm.2_5'UTR|UBE2J2_uc001ado.2_Missense_Mutation_p.P28L|UBE2J2_uc001adp.2_Missense_Mutation_p.P28L|UBE2J2_uc001adq.2_5'UTR|UBE2J2_uc001adr.2_Intron|UBE2J2_uc001ads.2_5'UTR	NM_194458	NP_919440	Q8N2K1	UB2J2_HUMAN	ubiquitin conjugating enzyme E2, J2 isoform 3	28	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		GTAAGGCACCGGGTCTTTCTT	0.582													A	1203290	G	A	1203290	3	1	72	1	0	0	0	0	1	0	0	0	16858	1116	39	1	772	1	UBE2J2	1	1203290	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08		1203290	248047331	1	48878											
UBR4	23352	broad.mit.edu	37	chr1	19451145	19451145	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cctcagtaccatttctgttaGaagctgagtataggcctcaa	8	10	3	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:19451145G>C	uc001bbi.2	-	65	9482	c.9478C>G	c.(9478-9480)CTA>GTA	p.L3160V	UBR4_uc001bbk.1_Missense_Mutation_p.L807V	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3160					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATTTCTGTTAGAAGCTGAGTA	0.428													C	19451145	G	C	19451145	3	2	72	1	0	0	0	0	1	0	0	0	16901	933	33	5	6241	5	UBR4	1	19451145	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	18247855	19451145	229799476	2	48879											
ZBTB40	9923	broad.mit.edu	37	chr1	22837716	22837716	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gccagccctgaagcttccctGagagcagtgctgagcagagc	13	13	0	4			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:22837716G>C	uc001bft.2	+	11	2389	c.1878G>C	c.(1876-1878)CTG>CTC	p.L626L	ZBTB40_uc001bfu.2_Silent_p.L626L|ZBTB40_uc009vqi.1_Silent_p.L514L|ZBTB40_uc001bfv.1_Silent_p.L255L	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	626					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AAGCTTCCCTGAGAGCAGTGC	0.507													C	22837716	G	C	22837716	2	2	72	1	0	0	0	0	0	0	0	1	17539	1277	45	5		5	ZBTB40	1	22837716	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08	3386571	22837716	226412905	3	48880											
HCRTR1	3061	broad.mit.edu	37	chr1	32085185	32085185	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggacagtcaccaactacttCattgtcaacctgtccctggc	7	14	3	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:32085185C>A	uc009vtx.2	+	4	637	c.252C>A	c.(250-252)TTC>TTA	p.F84L	HCRTR1_uc001btb.2_Intron|HCRTR1_uc001btc.3_Intron|HCRTR1_uc001btd.2_Missense_Mutation_p.F84L|HCRTR1_uc010ogl.1_Missense_Mutation_p.F84L	NM_001525	NP_001516	O43613	OX1R_HUMAN	orexin receptor 1	84	Helical; Name=2; (Potential).				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				ovary(1)	1		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CCAACTACTTCATTGTCAACC	0.612													A	32085185	C	A	32085185	3	1	72	1	0	0	0	0	1	0	0	0	7001	825	29	5	258	5	HCRTR1	1	32085185	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	9247469	32085185	217165436	4	48881											
KIAA0467	23334	broad.mit.edu	37	chr1	43891237	43891237	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtgtgggtggagccacAgtatgggcgagtgggacctg	20	6	0	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:43891237A>C	uc001cjk.1	+	5	674	c.212A>C	c.(211-213)CAG>CCG	p.Q71P	KIAA0467_uc009vws.1_Missense_Mutation_p.Q913P	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	913						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTGGAGCCACAGTATGGGCGA	0.557													C	43891237	A	C	43891237	3	2	72	1	0	0	0	0	1	0	0	0	8178	188	7	5	222	5	KIAA0467	1	43891237	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	11806052	43891237	205359384	5	48882											
DMAP1	55929	broad.mit.edu	37	chr1	44684006	44684006	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaggtgcctgtgtactcGgagcaggagtaccagcttta	14	9	0	0	rs145462822	byFrequency	TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:44684006G>A	uc001clq.1	+	5	497	c.417G>A	c.(415-417)TCG>TCA	p.S139S	DMAP1_uc010okt.1_Missense_Mutation_p.R178Q|DMAP1_uc001clr.1_Silent_p.S139S|DMAP1_uc001cls.1_Silent_p.S139S|DMAP1_uc010oku.1_Intron	NM_001034024	NP_001029196	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	139					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					CTGTGTACTCGGAGCAGGAGT	0.562											OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	44684006	G	A	44684006	2	1	72	1	0	0	0	0	0	0	0	1	4576	1103	39	1		1	DMAP1	1	44684006	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08	792769	44684006	204566615	6	48883											
NFIA	4774	broad.mit.edu	37	chr1	61824865	61824865	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggatgaaatggacagtcctGgtgaggagccattttataca	12	6	0	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:61824865G>C	uc001czw.2	+	6	1349	c.865G>C	c.(865-867)GGT>CGT	p.G289R	NFIA_uc001czy.2_Missense_Mutation_p.G281R|NFIA_uc010oos.1_Missense_Mutation_p.G334R|NFIA_uc001czv.2_Missense_Mutation_p.G289R	NM_001134673	NP_001128145	Q12857	NFIA_HUMAN	nuclear factor I/A isoform 1	289					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)|skin(1)	2						GGACAGTCCTGGTGAGGAGCC	0.517													C	61824865	G	C	61824865	3	2	72	1	0	0	0	0	1	0	0	0	10370	1348	47	5	1033	5	NFIA	1	61824865	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	17140859	61824865	187425756	7	48884											
NEGR1	257194	broad.mit.edu	37	chr1	72163810	72163810	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaaatattgtccatttTcaaatggttttgctataaaa	5	6	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:72163810T>G	uc001dfw.2	-	4	648	c.548A>C	c.(547-549)GAA>GCA	p.E183A	NEGR1_uc001dfv.2_Missense_Mutation_p.E55A|NEGR1_uc010oqs.1_Intron	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1 precursor	183	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				ovary(1)	1		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TTGTCCATTTTCAAATGGTTT	0.373													G	72163810	T	G	72163810	3	3	72	1	0	0	0	0	1	0	0	0	10317	1783	62	5	532	5	NEGR1	1	72163810	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	10338945	72163810	177086811	8	48885											
LPHN2	23266	broad.mit.edu	37	chr1	82436124	82436124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaagtgaatattcaaggAaaaaatattactatgttgct	7	3	1	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:82436124A>G	uc001dit.3	+	15	2990	c.2809A>G	c.(2809-2811)AAA>GAA	p.K937E	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.K937E|LPHN2_uc001div.2_Missense_Mutation_p.K937E|LPHN2_uc009wcd.2_Missense_Mutation_p.K937E|LPHN2_uc001diw.2_Missense_Mutation_p.K521E|LPHN2_uc009wce.1_Missense_Mutation_p.K23E	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	950	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATATTCAAGGAAAAAATATTA	0.378													G	82436124	A	G	82436124	3	3	72	1	0	0	0	0	1	0	0	0	8916	247	9	3	2859	3	LPHN2	1	82436124	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	10272314	82436124	166814497	9	48886											
HSD3B1	3283	broad.mit.edu	37	chr1	120056814	120056814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagttctccactgttaaccCagtctatgttggcaatgtgg	9	9	2	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:120056814C>T	uc001ehv.1	+	4	813	c.668C>T	c.(667-669)CCA>CTA	p.P223L	HSD3B1_uc001ehw.2_Missense_Mutation_p.P225L	NM_000862	NP_000853	P14060	3BHS1_HUMAN	3 beta-hydroxysteroid dehydrogenase 1	223					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	ACTGTTAACCCAGTCTATGTT	0.517													T	120056814	C	T	120056814	3	4	72	1	0	0	0	0	1	0	0	0	7390	594	21	4	678	4	HSD3B1	1	120056814	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	37620690	120056814	129193807	10	48887											
PIP5K1A	8394	broad.mit.edu	37	chr1	151211637	151211637	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttggagcactcttggaaaGccctggtacatgacggagta	13	8	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:151211637G>T	uc001exj.2	+	11	1713	c.1261G>T	c.(1261-1263)GCC>TCC	p.A421S	PIP5K1A_uc001exi.2_Missense_Mutation_p.A408S|PIP5K1A_uc010pcu.1_Missense_Mutation_p.A381S|PIP5K1A_uc001exk.2_Missense_Mutation_p.A408S|PIP5K1A_uc010pcv.1_Missense_Mutation_p.A178S	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	421	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			ovary(1)|central_nervous_system(1)|skin(1)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTCTTGGAAAGCCCTGGTACA	0.373													T	151211637	G	T	151211637	3	4	72	1	0	0	0	0	1	0	0	0	11939	971	34	5	1303	5	PIP5K1A	1	151211637	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	31154823	151211637	98038984	11	48888											
LCE1A	353131	broad.mit.edu	37	chr1	152800031	152800031	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccaagtgccccactcctaAgtgccccccaaagtgtcccc	6	20	0	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:152800031A>C	uc010pdw.1	+	1	83	c.83A>C	c.(82-84)AAG>ACG	p.K28T		NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	28	Cys-rich.				keratinization					ovary(1)|skin(1)	2	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			cccactcctaagtgcccccca	0.423													C	152800031	A	C	152800031	3	2	72	1	0	0	0	0	1	0	0	0	8659	72	3	5	85	5	LCE1A	1	152800031	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	1588394	152800031	96450590	12	48889											
PMVK	10654	broad.mit.edu	37	chr1	154904868	154904868	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggaccagagagccggaggAcagcacagacatcagctcca	13	12	1	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:154904868A>C	uc001ffq.2	-	2	442	c.119T>G	c.(118-120)GTC>GGC	p.V40G		NM_006556	NP_006547	Q15126	PMVK_HUMAN	phosphomevalonate kinase	40					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding				0	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAGCCGGAGGACAGCACAGAC	0.532													C	154904868	A	C	154904868	3	2	72	1	0	0	0	0	1	0	0	0	12144	275	10	5	475	5	PMVK	1	154904868	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	2104837	154904868	94345753	13	48890											
BCAN	63827	broad.mit.edu	37	chr1	156622677	156622677	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtggagtggccgtggtcccCgcatcaggtaattctgccca	14	12	2	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:156622677C>A	uc001fpp.2	+	8	2271	c.1935C>A	c.(1933-1935)CCC>CCA	p.P645P	BCAN_uc001fpo.2_Silent_p.P645P	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	645					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCGTGGTCCCCGCATCAGGTA	0.587													A	156622677	C	A	156622677	2	1	72	1	0	0	0	0	0	0	0	1	1345	639	23	5		5	BCAN	1	156622677	Silent	SNP	C	TCGA-BR-8297-01A-12D-2340-08	1717809	156622677	92627944	14	48891											
OR10K2	391107	broad.mit.edu	37	chr1	158390187	158390187	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataccaaggatgtgatgatcTgtgcaacagtgaagccacag	11	8	1	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:158390187T>G	uc010pii.1	-	1	470	c.470A>C	c.(469-471)CAG>CCG	p.Q157P		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	157	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					TGTGATGATCTGTGCAACAGT	0.493													G	158390187	T	G	158390187	3	3	72	1	0	0	0	0	1	0	0	0	10914	1580	55	5	470	5	OR10K2	1	158390187	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	1767510	158390187	90860434	15	48892											
OR10K2	391107	broad.mit.edu	37	chr1	158390391	158390391	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaaagaaatggtcttcTtctgggacagcaggtcaacc	11	10	4	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:158390391T>G	uc010pii.1	-	1	266	c.266A>C	c.(265-267)AAG>ACG	p.K89T		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	89	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					AATGGTCTTCTTCTGGGACAG	0.483													G	158390391	T	G	158390391	3	3	72	1	0	0	0	0	1	0	0	0	10914	1609	56	5	674	5	OR10K2	1	158390391	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	204	158390391	90860230	16	48893											
OR10K1	391109	broad.mit.edu	37	chr1	158435416	158435416	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcttctcatccctggccaGgctgcagcagctgctctttg	11	15	2	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:158435416G>T	uc010pij.1	+	1	65	c.65G>T	c.(64-66)AGG>ATG	p.R22M		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TCCCTGGCCAGGCTGCAGCAG	0.517													T	158435416	G	T	158435416	3	4	72	1	0	0	0	0	1	0	0	0	10913	1000	35	5	67	5	OR10K1	1	158435416	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	45025	158435416	90815205	17	48894											
OR10Z1	128368	broad.mit.edu	37	chr1	158576978	158576978	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccttacagtggtcattatTcattatggctgtgcttcctt	7	10	2	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:158576978T>C	uc010pio.1	+	1	750	c.750T>C	c.(748-750)ATT>ATC	p.I250I		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	250	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					TGGTCATTATTCATTATGGCT	0.522													C	158576978	T	C	158576978	2	2	72	1	0	0	0	0	0	0	0	1	10923	1771	62	3		3	OR10Z1	1	158576978	Silent	SNP	T	TCGA-BR-8297-01A-12D-2340-08	141562	158576978	90673643	18	48895											
SPTA1	6708	broad.mit.edu	37	chr1	158583547	158583547	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catccaggaacttctcaaacTtgggctcatgttcatcctcc	6	14	3	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:158583547T>C	uc001fst.1	-	50	7152	c.6953A>G	c.(6952-6954)AAG>AGG	p.K2318R		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2318	EF-hand 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CTTCTCAAACTTGGGCTCATG	0.537													C	158583547	T	C	158583547	3	2	72	1	0	0	0	0	1	0	0	0	15115	1609	56	3	318	3	SPTA1	1	158583547	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	6569	158583547	90667074	19	48896											
SPTA1	6708	broad.mit.edu	37	chr1	158606546	158606546	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagctcactcgtatcaacTtctccctaaaatcaaggaag	8	11	4	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:158606546T>G	uc001fst.1	-	37	5394	c.5195A>C	c.(5194-5196)AAG>ACG	p.K1732T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1732	Spectrin 17.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCGTATCAACTTCTCCCTAAA	0.473													G	158606546	T	G	158606546	3	3	72	1	0	0	0	0	1	0	0	0	15115	1609	56	5	2128	5	SPTA1	1	158606546	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	22999	158606546	90644075	20	48897											
SPTA1	6708	broad.mit.edu	37	chr1	158615013	158615013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtctaggatcttcttgcGtttttcccaagccttctcca	7	13	4	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:158615013G>A	uc001fst.1	-	29	4358	c.4159C>T	c.(4159-4161)CGC>TGC	p.R1387C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1387	Spectrin 13.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					ATCTTCTTGCGTTTTTCCCAA	0.433													A	158615013	G	A	158615013	3	1	72	1	0	0	0	0	1	0	0	0	15115	1145	40	1	3196	1	SPTA1	1	158615013	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	8467	158615013	90635608	21	48898											
SPTA1	6708	broad.mit.edu	37	chr1	158651331	158651331	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgataccttgtctccaatccActctaagatgtcagcacact	5	14	3	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:158651331A>G	uc001fst.1	-	4	716	c.517T>C	c.(517-519)TGG>CGG	p.W173R		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	173	Spectrin 3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCTCCAATCCACTCTAAGATG	0.522													G	158651331	A	G	158651331	3	3	72	1	0	0	0	0	1	0	0	0	15115	159	6	3	6938	3	SPTA1	1	158651331	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	36318	158651331	90599290	22	48899											
PYHIN1	149628	broad.mit.edu	37	chr1	158908331	158908331	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggagactcttggacctcAggtaagcttcaggaagagga	14	7	3	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:158908331A>G	uc001ftb.2	+	3	655	c.410A>G	c.(409-411)CAG>CGG	p.Q137R	PYHIN1_uc001fta.3_Missense_Mutation_p.Q137R|PYHIN1_uc001ftc.2_Missense_Mutation_p.Q128R|PYHIN1_uc001ftd.2_Missense_Mutation_p.Q137R|PYHIN1_uc001fte.2_Missense_Mutation_p.Q128R	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	137					cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)					CTTGGACCTCAGGTAAGCTTC	0.488													G	158908331	A	G	158908331	3	3	72	1	0	0	0	0	1	0	0	0	12865	202	7	3	416	3	PYHIN1	1	158908331	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	257000	158908331	90342290	23	48900											
FCER1A	2205	broad.mit.edu	37	chr1	159276003	159276003	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgtggcagctggactatgAgtctgagcccctcaacatta	11	10	2	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:159276003A>G	uc001ftq.2	+	5	656	c.557A>G	c.(556-558)GAG>GGG	p.E186G		NM_002001	NP_001992	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor	186	Ig-like 2.|Extracellular (Potential).					integral to plasma membrane				lung(2)|skin(2)|prostate(1)	5	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CTGGACTATGAGTCTGAGCCC	0.458													G	159276003	A	G	159276003	3	3	72	1	0	0	0	0	1	0	0	0	5774	304	11	3	571	3	FCER1A	1	159276003	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	367672	159276003	89974618	24	48901											
OR10J1	26476	broad.mit.edu	37	chr1	159410501	159410501	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagggctgttggtgggaAgttttcctgaccatgtagga	16	6	0	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:159410501A>C	uc010piv.1	+	1	953	c.953A>C	c.(952-954)AAG>ACG	p.K318T	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	318	Cytoplasmic (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					GTTGGTGGGAAGTTTTCCTGA	0.488													C	159410501	A	C	159410501	3	2	72	1	0	0	0	0	1	0	0	0	10910	72	3	5	955	5	OR10J1	1	159410501	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	134498	159410501	89840120	25	48902											
APCS	325	broad.mit.edu	37	chr1	159558396	159558396	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccccagaaaatatcctgtcTgcctatcagggtacccctct	6	16	3	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:159558396T>A	uc001ftv.2	+	2	666	c.570T>A	c.(568-570)TCT>TCA	p.S190S		NM_001639	NP_001630	P02743	SAMP_HUMAN	serum amyloid P component precursor	190	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			ovary(1)|breast(1)	2	all_hematologic(112;0.0429)					ATATCCTGTCTGCCTATCAGG	0.502													A	159558396	T	A	159558396	2	1	72	1	0	0	0	0	0	0	0	1	767	1567	55	5		5	APCS	1	159558396	Silent	SNP	T	TCGA-BR-8297-01A-12D-2340-08	147895	159558396	89692225	26	48903											
VANGL2	57216	broad.mit.edu	37	chr1	160394940	160394940	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatacttggcggctggaccTaccatccagtaccacaagga	10	13	0	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:160394940T>C	uc001fwb.1	+	9	1637	c.1338T>C	c.(1336-1338)CCT>CCC	p.P446P	VANGL2_uc001fwc.1_Silent_p.P446P	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	446	Cytoplasmic (Potential).				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGGCTGGACCTACCATCCAGT	0.557													C	160394940	T	C	160394940	2	2	72	1	0	0	0	0	0	0	0	1	17117	1509	53	3		3	VANGL2	1	160394940	Silent	SNP	T	TCGA-BR-8297-01A-12D-2340-08	836544	160394940	88855681	27	48904											
HMCN1	83872	broad.mit.edu	37	chr1	185992242	185992242	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacacatgtgtggctaccaaCgcagctggagaaacacaaca	9	11	0	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:185992242C>A	uc001grq.1	+	36	5935	c.5706C>A	c.(5704-5706)AAC>AAA	p.N1902K		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1902	Ig-like C2-type 16.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TGGCTACCAACGCAGCTGGAG	0.388													A	185992242	C	A	185992242	3	1	72	1	0	0	0	0	1	0	0	0	7220	535	19	5	5848	5	HMCN1	1	185992242	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	25597302	185992242	63258379	28	48905											
CFH	3075	broad.mit.edu	37	chr1	196684839	196684839	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttatgaaagcaatactggaAgcaccactggttccatagtg	10	8	0	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:196684839A>C	uc001gtj.3	+	11	1876	c.1636A>C	c.(1636-1638)AGC>CGC	p.S546R		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	546	Sushi 9.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						CAATACTGGAAGCACCACTGG	0.264													C	196684839	A	C	196684839	3	2	72	1	0	0	0	0	1	0	0	0	3283	72	3	5	1696	5	CFH	1	196684839	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	10692597	196684839	52565782	29	48906											
NAV1	89796	broad.mit.edu	37	chr1	201752711	201752711	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcttcacccccagtccGgcacccatcctcaatattaa	4	18	2	0	rs144457633		TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:201752711G>A	uc001gwu.2	+	7	2882	c.2535G>A	c.(2533-2535)CCG>CCA	p.P845P	NAV1_uc001gwv.1_Silent_p.P353P|NAV1_uc001gww.1_Silent_p.P454P|NAV1_uc001gwx.2_Silent_p.P454P|NAV1_uc001gwy.1_Silent_p.P226P	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	845					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						CCCCCAGTCCGGCACCCATCC	0.547													A	201752711	G	A	201752711	2	1	72	1	0	0	0	0	0	0	0	1	10183	1103	39	1		1	NAV1	1	201752711	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08	5067872	201752711	47497910	30	48907											
KLHL12	59349	broad.mit.edu	37	chr1	202861698	202861698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaacaccagcatcacagCgctgggttcccatggatgtc	9	14	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:202861698C>T	uc001gyo.1	-	12	1870	c.1670G>A	c.(1669-1671)CGC>CAC	p.R557H	KLHL12_uc001gym.1_3'UTR|KLHL12_uc001gyn.1_3'UTR|KLHL12_uc010pqc.1_Missense_Mutation_p.R595H	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	kelch-like 12	557	Kelch 6.|Interaction with DVL3.				Wnt receptor signaling pathway		protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGCATCACAGCGCTGGGTTCC	0.493													T	202861698	C	T	202861698	3	4	72	1	0	0	0	0	1	0	0	0	8368	768	27	1	40	1	KLHL12	1	202861698	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	1108987	202861698	46388923	31	48908											
CD34	947	broad.mit.edu	37	chr1	208061155	208061155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtggcctggccggtcccGttttcctgagcccctcggtt	14	14	0	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:208061155G>A	uc001hgw.1	-	8	1344	c.1086C>T	c.(1084-1086)AAC>AAT	p.N362N	CD34_uc001hgv.1_Silent_p.N204N|CD34_uc001hgx.1_3'UTR|CD34_uc010psj.1_Silent_p.N227N	NM_001025109	NP_001020280	P28906	CD34_HUMAN	CD34 antigen isoform a	362	Cytoplasmic (Potential).				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			ovary(1)	1						GGCCGGTCCCGTTTTCCTGAG	0.607													A	208061155	G	A	208061155	2	1	72	1	0	0	0	0	0	0	0	1	3006	1136	40	1		1	CD34	1	208061155	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08	5199457	208061155	41189466	32	48909											
AIDA	64853	broad.mit.edu	37	chr1	222849460	222849460	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttacactaactgtaatataGggatcgatgcactgcccagc	8	10	0	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:222849460G>C	uc001hnn.2	-	7	766	c.561C>G	c.(559-561)CCC>CCG	p.P187P	AIDA_uc001hno.2_RNA|AIDA_uc010pus.1_Silent_p.P163P	NM_022831	NP_073742	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	187	Axin-binding (By similarity).				dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity						0						CTGTAATATAGGGATCGATGC	0.363													C	222849460	G	C	222849460	2	2	72	1	0	0	0	0	0	0	0	1	423	987	35	5		5	AIDA	1	222849460	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08	14788305	222849460	26401161	33	48910											
C1orf55	163859	broad.mit.edu	37	chr1	226180108	226180108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattctcacctttgaggaCggaatcctccagacgctcag	8	14	3	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:226180108C>T	uc001hpu.3	-	4	564	c.511G>A	c.(511-513)GTC>ATC	p.V171I	C1orf55_uc001hpv.2_Missense_Mutation_p.V171I	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	hypothetical protein LOC163859	171										lung(1)	1	Breast(184;0.197)					CCTTTGAGGACGGAATCCTCC	0.527													T	226180108	C	T	226180108	3	4	72	1	0	0	0	0	1	0	0	0	2047	536	19	1	860	1	C1orf55	1	226180108	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	3330648	226180108	23070513	34	48911											
OBSCN	84033	broad.mit.edu	37	chr1	228434396	228434396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaagtgcgcatagaggctGcgggctgcatgcggcagctg	17	10	0	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:228434396G>A	uc009xez.1	+	13	3969	c.3925G>A	c.(3925-3927)GCG>ACG	p.A1309T	OBSCN_uc001hsn.2_Missense_Mutation_p.A1309T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1309	Ig-like 13.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CATAGAGGCTGCGGGCTGCAT	0.637													A	228434396	G	A	228434396	3	1	72	1	0	0	0	0	1	0	0	0	10812	1319	46	2	3971	2	OBSCN	1	228434396	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	2254288	228434396	20816225	35	48912											
EGLN1	54583	broad.mit.edu	37	chr1	231556836	231556836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgagcagcccaatggtttCgcagccgggctccttgccct	11	15	0	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:231556836C>T	uc001huv.2	-	1	3955	c.799G>A	c.(799-801)GAA>AAA	p.E267K	EGLN1_uc001huu.3_5'Flank	NM_022051	NP_071334	Q9GZT9	EGLN1_HUMAN	egl nine homolog 1	267					negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding				0		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	CCAATGGTTTCGCAGCCGGGC	0.567													T	231556836	C	T	231556836	3	4	72	1	0	0	0	0	1	0	0	0	4968	893	31	1	501	1	EGLN1	1	231556836	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	3122440	231556836	17693785	36	48913											
DISC1	27185	broad.mit.edu	37	chr1	231954086	231954086	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgtaggaaaccatttcTggacggctaaagacctcacc	10	11	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:231954086T>C	uc001huz.2	+	9	1857	c.1804T>C	c.(1804-1806)TGG>CGG	p.W602R	TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.W591R|TSNAX-DISC1_uc010pwh.1_Missense_Mutation_p.W557R|TSNAX-DISC1_uc010pwi.1_Missense_Mutation_p.W557R|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.W591R|TSNAX-DISC1_uc010pwk.1_Silent_p.S556S|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwr.1_Missense_Mutation_p.W602R|DISC1_uc010pws.1_Silent_p.S567S|DISC1_uc010pwt.1_Missense_Mutation_p.L549P|DISC1_uc010pwu.1_Missense_Mutation_p.L199P|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.W602R|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.W602R|DISC1_uc010pxb.1_Missense_Mutation_p.W602R|DISC1_uc010pxc.1_Intron|DISC1_uc010pxd.1_Missense_Mutation_p.W247R|DISC1_uc010pxe.1_Missense_Mutation_p.W602R|DISC1_uc009xfr.2_Missense_Mutation_p.W557R|DISC1_uc010pxf.1_Missense_Mutation_p.W602R|DISC1_uc010pxg.1_Intron|DISC1_uc010pxh.1_Missense_Mutation_p.W634R|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Missense_Mutation_p.W247R|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.W480R|DISC1_uc010pxn.1_Missense_Mutation_p.W247R|DISC1_uc001hva.2_Missense_Mutation_p.W602R|DISC2_uc001hvd.2_RNA	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	602	Potential.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with TRAF3IP1.|Interaction with ATF4 and ATF5.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)				AAACCATTTCTGGACGGCTAA	0.473													C	231954086	T	C	231954086	3	2	72	1	0	0	0	0	1	0	0	0	4538	1580	55	3	2211	3	DISC1	1	231954086	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	397250	231954086	17296535	37	48914											
SIPA1L2	57568	broad.mit.edu	37	chr1	232561464	232561464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaactccgggaactgccaaAggaggaccccctcctgttgc	12	14	0	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:232561464A>G	uc001hvg.2	-	16	4659	c.4501T>C	c.(4501-4503)TTT>CTT	p.F1501L	SIPA1L2_uc001hvf.2_Missense_Mutation_p.F575L	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1501					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAACTGCCAAAGGAGGACCCC	0.597													G	232561464	A	G	232561464	3	3	72	1	0	0	0	0	1	0	0	0	14330	72	3	3	691	3	SIPA1L2	1	232561464	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	607378	232561464	16689157	38	48915											
FMN2	56776	broad.mit.edu	37	chr1	240555824	240555824	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagccaaaattgaccaAgaggcagaggaaaattcact	8	9	2	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:240555824A>C	uc010pyd.1	+	15	5097	c.4872A>C	c.(4870-4872)CAA>CAC	p.Q1624H	FMN2_uc010pye.1_Missense_Mutation_p.Q1628H|FMN2_uc010pyf.1_Missense_Mutation_p.Q239H|FMN2_uc010pyg.1_Missense_Mutation_p.Q220H	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1624	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAATTGACCAAGAGGCAGAGG	0.343													C	240555824	A	C	240555824	3	2	72	1	0	0	0	0	1	0	0	0	5950	69	3	5	4930	5	FMN2	1	240555824	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	7994360	240555824	8694797	39	48916											
OR2L2	26246	broad.mit.edu	37	chr1	248201578	248201578	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taggaattccccatggaaaaTtacaatcaaacatcaactga	5	9	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:248201578T>G	uc001idw.2	+	1	105	c.9T>G	c.(7-9)AAT>AAG	p.N3K	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	3	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCATGGAAAATTACAATCAAA	0.299													G	248201578	T	G	248201578	3	3	72	1	0	0	0	0	1	0	0	0	11007	1490	52	5	11	5	OR2L2	1	248201578	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	7645754	248201578	1049043	40	48917											
OR2T4	127074	broad.mit.edu	37	chr1	248525557	248525557	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctgctcagacacctcActctatgagattttcatgta	5	13	5	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr1:248525557A>C	uc001ieh.1	+	1	675	c.675A>C	c.(673-675)TCA>TCC	p.S225S		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	225	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGACACCTCACTCTATGAGA	0.483													C	248525557	A	C	248525557	2	2	72	1	0	0	0	0	0	0	0	1	11027	146	6	5		5	OR2T4	1	248525557	Silent	SNP	A	TCGA-BR-8297-01A-12D-2340-08	323979	248525557	725064	41	48918											
APOB	338	broad.mit.edu	37	chr2	21234209	21234209	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcttgctgataaggcagcaGaagagatggcatagatgtgt	14	5	0	4			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:21234209G>A	uc002red.2	-	26	5659	c.5531C>T	c.(5530-5532)TCT>TTT	p.S1844F		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1844					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TAAGGCAGCAGAAGAGATGGC	0.468													A	21234209	G	A	21234209	3	1	72	1	0	0	0	0	1	0	0	0	785	942	33	4	8176	4	APOB	2	21234209	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08		21234209	221965164	42	48919											
EHBP1	23301	broad.mit.edu	37	chr2	63058193	63058193	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttggctagtttgatgagtatGaagcaggctgacattggcaa	13	5	0	4			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:63058193G>A	uc002sby.2	+	7	1016	c.534G>A	c.(532-534)ATG>ATA	p.M178I	EHBP1_uc010fcp.2_Missense_Mutation_p.M178I|EHBP1_uc002sbx.2_Missense_Mutation_p.M178I|EHBP1_uc002sbz.2_Missense_Mutation_p.M178I|EHBP1_uc002scb.2_Missense_Mutation_p.M178I	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	178						cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TGATGAGTATGAAGCAGGCTG	0.343									Hereditary_Prostate_Cancer				A	63058193	G	A	63058193	3	1	72	1	0	0	0	0	1	0	0	0	4975	1290	45	4	556	4	EHBP1	2	63058193	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	41823984	63058193	180141180	43	48920											
CNRIP1	25927	broad.mit.edu	37	chr2	68544371	68544371	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catatgtacccgtataaacaActctgtccccatcaggctct	5	14	3	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:68544371A>C	uc002sek.3	-	2	899	c.248T>G	c.(247-249)GTT>GGT	p.V83G	CNRIP1_uc002sej.3_Missense_Mutation_p.V83G|CNRIP1_uc002sel.3_RNA|CNRIP1_uc010fdd.1_Missense_Mutation_p.V83G	NM_015463	NP_056278	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	83							protein binding			liver(1)	1						CGTATAAACAACTCTGTCCCC	0.498													C	68544371	A	C	68544371	3	2	72	1	0	0	0	0	1	0	0	0	3633	43	2	5	315	5	CNRIP1	2	68544371	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	5486178	68544371	174655002	44	48921											
DYSF	8291	broad.mit.edu	37	chr2	71741005	71741005	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatcaaaagaaagcgaagtgCgcctacatctagaaagctgc	10	9	2	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:71741005C>A	uc002sie.2	+	6	993	c.617C>A	c.(616-618)GCG>GAG	p.A206E	DYSF_uc010feg.2_Missense_Mutation_p.A237E|DYSF_uc010feh.2_Missense_Mutation_p.A206E|DYSF_uc002sig.3_Missense_Mutation_p.A206E|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.A206E|DYSF_uc010fef.2_Missense_Mutation_p.A237E|DYSF_uc010fei.2_Missense_Mutation_p.A237E|DYSF_uc010fek.2_Missense_Mutation_p.A238E|DYSF_uc010fej.2_Missense_Mutation_p.A207E|DYSF_uc010fel.2_Missense_Mutation_p.A207E|DYSF_uc010feo.2_Missense_Mutation_p.A238E|DYSF_uc010fem.2_Missense_Mutation_p.A207E|DYSF_uc010fen.2_Missense_Mutation_p.A238E|DYSF_uc002sif.2_Missense_Mutation_p.A207E	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	206	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						AAGCGAAGTGCGCCTACATCT	0.587													A	71741005	C	A	71741005	3	1	72	1	0	0	0	0	1	0	0	0	4859	768	27	5	831	5	DYSF	2	71741005	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	3196634	71741005	171458368	45	48922											
CNTNAP5	129684	broad.mit.edu	37	chr2	125262020	125262020	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggaacaaggatggtctgcTtctgtccacagagctgtctg	12	9	3	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:125262020T>C	uc002tno.2	+	8	1575	c.1211T>C	c.(1210-1212)CTT>CCT	p.L404P	CNTNAP5_uc010flu.2_Missense_Mutation_p.L405P	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	404	Laminin G-like 2.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		GATGGTCTGCTTCTGTCCACA	0.552													C	125262020	T	C	125262020	3	2	72	1	0	0	0	0	1	0	0	0	3650	1609	56	3	1241	3	CNTNAP5	2	125262020	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	53521015	125262020	117937353	46	48923											
FAM123C	205147	broad.mit.edu	37	chr2	131520539	131520539	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagcagctggcctcgccCgcccagaatgaagcctctga	13	14	1	3	rs140458255		TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:131520539C>T	uc002trw.2	+	2	1084	c.894C>T	c.(892-894)CCC>CCT	p.P298P	FAM123C_uc010fmv.2_Silent_p.P298P|FAM123C_uc010fms.1_Silent_p.P298P|FAM123C_uc010fmt.1_Silent_p.P298P|FAM123C_uc010fmu.1_Silent_p.P298P	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	298										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		TGGCCTCGCCCGCCCAGAATG	0.657													T	131520539	C	T	131520539	2	4	72	1	0	0	0	0	0	0	0	1	5424	639	23	1		1	FAM123C	2	131520539	Silent	SNP	C	TCGA-BR-8297-01A-12D-2340-08	6258519	131520539	111678834	47	48924											
NCKAP5	344148	broad.mit.edu	37	chr2	133971302	133971302	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acttaccatggccccctcacTtgttctttgggcaacttctc	6	15	3	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:133971302T>G	uc002ttp.2	-	5	567	c.193A>C	c.(193-195)AGT>CGT	p.S65R	NCKAP5_uc002ttq.2_Missense_Mutation_p.S65R|NCKAP5_uc002ttt.1_Missense_Mutation_p.S65R|NCKAP5_uc002tts.1_Missense_Mutation_p.S40R	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	65							protein binding				0						GCCCCCTCACTTGTTCTTTGG	0.488													G	133971302	T	G	133971302	3	3	72	1	0	0	0	0	1	0	0	0	10223	1609	56	5	5600	5	NCKAP5	2	133971302	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	2450763	133971302	109228071	48	48925											
LRP1B	53353	broad.mit.edu	37	chr2	141625304	141625304	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtccagtagacttcactcccAtatagagacacagcaaaggg	9	11	1	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:141625304A>T	uc002tvj.1	-	27	5406	c.4434T>A	c.(4432-4434)TAT>TAA	p.Y1478*	LRP1B_uc010fnl.1_Nonsense_Mutation_p.Y660*	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1478	Extracellular (Potential).|LDL-receptor class B 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTCACTCCCATATAGAGACA	0.448										TSP Lung(27;0.18)			T	141625304	A	T	141625304	4	4	72	1	0	0	0	0	0	1	0	0	8955	224	8	5	9625	5	LRP1B	2	141625304	Nonsense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	7654002	141625304	101574069	49	48926											
LRP1B	53353	broad.mit.edu	37	chr2	141665505	141665505	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcccattgcagagtttcTctggctgcaggcagactgag	11	10	1	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:141665505T>C	uc002tvj.1	-	22	4433	c.3461A>G	c.(3460-3462)GAG>GGG	p.E1154G	LRP1B_uc010fnl.1_Missense_Mutation_p.E336G	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1154	Extracellular (Potential).|LDL-receptor class A 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCAGAGTTTCTCTGGCTGCAG	0.448										TSP Lung(27;0.18)			C	141665505	T	C	141665505	3	2	72	1	0	0	0	0	1	0	0	0	8955	1551	54	3	10618	3	LRP1B	2	141665505	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	40201	141665505	101533868	50	48927											
LRP1B	53353	broad.mit.edu	37	chr2	141747223	141747223	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcatcaggacagctatgaTtgactgggagggagggggaa	17	5	2	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:141747223T>G	uc002tvj.1	-	17	3620	c.2648A>C	c.(2647-2649)AAT>ACT	p.N883T	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	883	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAGCTATGATTGACTGGGAG	0.363										TSP Lung(27;0.18)			G	141747223	T	G	141747223	3	3	72	1	0	0	0	0	1	0	0	0	8955	1493	52	5	11451	5	LRP1B	2	141747223	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	81718	141747223	101452150	51	48928											
GALNT13	114805	broad.mit.edu	37	chr2	155102400	155102400	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggctgggtcagacatgacTtatgggggttttaactggaa	14	5	1	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:155102400T>C	uc002tyr.3	+	7	1329	c.762T>C	c.(760-762)ACT>ACC	p.T254T	GALNT13_uc002tyt.3_Silent_p.T254T|GALNT13_uc010foc.1_Silent_p.T73T|GALNT13_uc010fod.2_Silent_p.T7T	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	254	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						CAGACATGACTTATGGGGGTT	0.408													C	155102400	T	C	155102400	2	2	72	1	0	0	0	0	0	0	0	1	6211	1596	56	3		3	GALNT13	2	155102400	Silent	SNP	T	TCGA-BR-8297-01A-12D-2340-08	13355177	155102400	88096973	52	48929											
XIRP2	129446	broad.mit.edu	37	chr2	167760333	167760333	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaacgcttttccattgcccTtgatgagctgaggagtgtgt	12	8	0	4			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:167760333T>G	uc002udx.2	+	1	359	c.341T>G	c.(340-342)CTT>CGT	p.L114R	XIRP2_uc010fpn.2_Missense_Mutation_p.L114R|XIRP2_uc010fpo.2_Missense_Mutation_p.L114R|XIRP2_uc010fpp.2_Missense_Mutation_p.L114R	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	Error:Variant_position_missing_in_A4UGR9_after_alignment					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TCCATTGCCCTTGATGAGCTG	0.498													G	167760333	T	G	167760333	3	3	72	1	0	0	0	0	1	0	0	0	17427	1609	56	5	343	5	XIRP2	2	167760333	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	12657933	167760333	75439040	53	48930											
MYO3B	140469	broad.mit.edu	37	chr2	171258164	171258164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttcagctggattgtgaatCgcattaatacactcctgcag	8	10	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:171258164C>T	uc002ufy.2	+	18	2235	c.2092C>T	c.(2092-2094)CGC>TGC	p.R698C	MYO3B_uc002ufv.2_Missense_Mutation_p.R685C|MYO3B_uc010fqb.1_Missense_Mutation_p.R685C|MYO3B_uc002ufz.2_Missense_Mutation_p.R698C|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	698	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						GATTGTGAATCGCATTAATAC	0.547													T	171258164	C	T	171258164	3	4	72	1	0	0	0	0	1	0	0	0	10077	884	31	1	2162	1	MYO3B	2	171258164	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	3497831	171258164	71941209	54	48931											
TTN	7273	broad.mit.edu	37	chr2	179470170	179470170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtatgactacattaagaGgtagggatggttcactttca	10	6	2	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:179470170G>A	uc010zfg.1	-	228	46372	c.46148C>T	c.(46147-46149)CCT>CTT	p.P15383L	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P9078L|TTN_uc010zfi.1_Missense_Mutation_p.P9011L|TTN_uc010zfj.1_Missense_Mutation_p.P8886L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16310							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACATTAAGAGGTAGGGATGG	0.348													A	179470170	G	A	179470170	3	1	72	1	0	0	0	0	1	0	0	0	16732	1000	35	4	54177	4	TTN	2	179470170	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	8212006	179470170	63729203	55	48932											
TTN	7273	broad.mit.edu	37	chr2	179614992	179614992	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtcatggaacactgggacTttatgtgctttgacatcatg	10	7	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:179614992T>G	uc002unb.2	-	46	12359	c.12135A>C	c.(12133-12135)AAA>AAC	p.K4045N	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACTGGGACTTTATGTGCTT	0.393													G	179614992	T	G	179614992	3	3	72	1	0	0	0	0	1	0	0	0	16732	1606	56	5	98162	5	TTN	2	179614992	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	144822	179614992	63584381	56	48933											
TTN	7273	broad.mit.edu	37	chr2	179633583	179633583	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtaagagatgccttcatAgttcactgtcacctcaaaag	7	9	4	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:179633583A>C	uc010zfg.1	-	38	9204	c.8980T>G	c.(8980-8982)TAT>GAT	p.Y2994D	TTN_uc010zfh.1_Missense_Mutation_p.Y2948D|TTN_uc010zfi.1_Missense_Mutation_p.Y2948D|TTN_uc010zfj.1_Missense_Mutation_p.Y2948D|TTN_uc002unb.2_Missense_Mutation_p.Y2994D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2994							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCCTTCATAGTTCACTGTC	0.378													C	179633583	A	C	179633583	3	2	72	1	0	0	0	0	1	0	0	0	16732	420	15	5	102308	5	TTN	2	179633583	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	18591	179633583	63565790	57	48934											
STAT1	6772	broad.mit.edu	37	chr2	191848385	191848385	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccctgggttccgccaccaGcatgttgtaccaaaggatgg	11	12	0	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:191848385G>A	uc002usj.2	-	17	1817	c.1429C>T	c.(1429-1431)CTG>TTG	p.L477L	STAT1_uc010fse.1_Silent_p.L477L|STAT1_uc002usk.2_Silent_p.L477L|STAT1_uc002usl.2_Silent_p.L479L|STAT1_uc010fsf.1_Silent_p.L289L	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	477					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TCCGCCACCAGCATGTTGTAC	0.547													A	191848385	G	A	191848385	2	1	72	1	0	0	0	0	0	0	0	1	15263	962	34	2		2	STAT1	2	191848385	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08	12214802	191848385	51350988	58	48935											
PLCL1	5334	broad.mit.edu	37	chr2	198950584	198950584	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcctatttttgatgaaacTtttgagttccaagtaaacct	5	7	0	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:198950584T>G	uc010fsp.2	+	2	2634	c.2343T>G	c.(2341-2343)ACT>ACG	p.T781T	PLCL1_uc002uuv.3_Silent_p.T702T	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	781	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	TTGATGAAACTTTTGAGTTCC	0.388													G	198950584	T	G	198950584	2	3	72	1	0	0	0	0	0	0	0	1	12039	1596	56	5		5	PLCL1	2	198950584	Silent	SNP	T	TCGA-BR-8297-01A-12D-2340-08	7102199	198950584	44248789	59	48936											
PLCL1	5334	broad.mit.edu	37	chr2	198950764	198950764	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatggagcacgtaaccctTtttgtccacatagcaataac	6	11	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:198950764T>G	uc010fsp.2	+	2	2814	c.2523T>G	c.(2521-2523)CTT>CTG	p.L841L	PLCL1_uc002uuv.3_Silent_p.L762L	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	841					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	ACGTAACCCTTTTTGTCCACA	0.453													G	198950764	T	G	198950764	2	3	72	1	0	0	0	0	0	0	0	1	12039	1828	64	5		5	PLCL1	2	198950764	Silent	SNP	T	TCGA-BR-8297-01A-12D-2340-08	180	198950764	44248609	60	48937											
SPATS2L	26010	broad.mit.edu	37	chr2	201305422	201305422	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgcaacgctgcaccgtttctCtaactagatatcgcgtcatg	8	12	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:201305422C>G	uc002uvn.3	+	8	1055	c.703C>G	c.(703-705)CTA>GTA	p.L235V	SPATS2L_uc010fst.2_Missense_Mutation_p.L235V|SPATS2L_uc002uvo.3_Missense_Mutation_p.L175V|SPATS2L_uc002uvp.3_Missense_Mutation_p.L235V|SPATS2L_uc002uvq.3_Missense_Mutation_p.L166V|SPATS2L_uc002uvr.3_Missense_Mutation_p.L235V|SPATS2L_uc010zhc.1_Missense_Mutation_p.L265V	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	SPATS2-like protein isoform a	235						cytoplasm|nucleolus				ovary(2)|pancreas(1)	3						CACCGTTTCTCTAACTAGATA	0.373													G	201305422	C	G	201305422	3	3	72	1	0	0	0	0	1	0	0	0	15019	912	32	5	725	5	SPATS2L	2	201305422	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	2354658	201305422	41893951	61	48938											
RAPH1	65059	broad.mit.edu	37	chr2	204354397	204354397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtccatgctggaggctgcGgaagtgatgctggaatggga	18	6	0	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:204354397G>A	uc002vad.2	-	4	867	c.642C>T	c.(640-642)TCC>TCT	p.S214S	RAPH1_uc002vae.2_Silent_p.S214S|RAPH1_uc002vaf.2_Silent_p.S214S	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	214					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						TGGAGGCTGCGGAAGTGATGC	0.453													A	204354397	G	A	204354397	2	1	72	1	0	0	0	0	0	0	0	1	13050	1103	39	1		1	RAPH1	2	204354397	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08	3048975	204354397	38844976	62	48939											
ZDBF2	57683	broad.mit.edu	37	chr2	207170797	207170797	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccaacaatctgtaacagaAgtaaaccttcctaaggaagt	6	11	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:207170797A>C	uc002vbp.2	+	5	1795	c.1545A>C	c.(1543-1545)GAA>GAC	p.E515D		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	515							nucleic acid binding|zinc ion binding			ovary(3)	3						CTGTAACAGAAGTAAACCTTC	0.418													C	207170797	A	C	207170797	3	2	72	1	0	0	0	0	1	0	0	0	17596	69	3	5	1555	5	ZDBF2	2	207170797	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	2816400	207170797	36028576	63	48940											
MAP2	4133	broad.mit.edu	37	chr2	210557419	210557419	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctctacagctgagccttcAgaccagaaggaaaaggagtc	10	12	2	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:210557419A>C	uc002vde.1	+	7	773	c.525A>C	c.(523-525)TCA>TCC	p.S175S	MAP2_uc002vdc.1_Silent_p.S175S|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.S171S	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	175					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CTGAGCCTTCAGACCAGAAGG	0.433													C	210557419	A	C	210557419	2	2	72	1	0	0	0	0	0	0	0	1	9235	175	7	5		5	MAP2	2	210557419	Silent	SNP	A	TCGA-BR-8297-01A-12D-2340-08	3386622	210557419	32641954	64	48941											
ABCA12	26154	broad.mit.edu	37	chr2	215812241	215812241	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggtagctctgtccttgaAgggcatcaggtgaagtctcc	13	9	3	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:215812241A>C	uc002vew.2	-	48	7364	c.7144T>G	c.(7144-7146)TTC>GTC	p.F2382V	ABCA12_uc002vev.2_Missense_Mutation_p.F2064V|ABCA12_uc010zjn.1_Missense_Mutation_p.F1309V	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	2382	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGTCCTTGAAGGGCATCAGG	0.443													C	215812241	A	C	215812241	3	2	72	1	0	0	0	0	1	0	0	0	30	72	3	5	667	5	ABCA12	2	215812241	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	5254822	215812241	27387132	65	48942											
CHRND	1144	broad.mit.edu	37	chr2	233394675	233394675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagtgggagatagtccacCggccggccagggtcaacgtg	18	10	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:233394675C>T	uc002vsw.2	+	7	650	c.646C>T	c.(646-648)CGG>TGG	p.R216W	CHRND_uc010zmg.1_Missense_Mutation_p.R201W|CHRND_uc010fyc.2_Missense_Mutation_p.R89W|CHRND_uc010zmh.1_Intron	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	216	Extracellular (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)|skin(1)	3		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GATAGTCCACCGGCCGGCCAG	0.647													T	233394675	C	T	233394675	3	4	72	1	0	0	0	0	1	0	0	0	3394	643	23	1	672	1	CHRND	2	233394675	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	17582434	233394675	9804698	66	48943											
GPC1	2817	broad.mit.edu	37	chr2	241405692	241405692	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcccttacagtagccagGccccggtggcggtaactgcc	13	15	0	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr2:241405692G>A	uc002vyw.3	+	9	1883	c.1662G>A	c.(1660-1662)AGG>AGA	p.R554R		NM_002081	NP_002072	P35052	GPC1_HUMAN	glypican 1 precursor	554					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CAGTAGCCAGGCCCCGGTGGC	0.602													A	241405692	G	A	241405692	2	1	72	1	0	0	0	0	0	0	0	1	6597	1194	42	2		2	GPC1	2	241405692	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08	8011017	241405692	1793681	67	48944											
GRM7	2917	broad.mit.edu	37	chr3	7620685	7620685	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taacagctcccagactcataAgcccaacatcacaactggca	5	15	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr3:7620685A>G	uc003bqm.2	+	8	2366	c.2092A>G	c.(2092-2094)AGC>GGC	p.S698G	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.S698G|GRM7_uc003bql.2_Missense_Mutation_p.S698G|GRM7_uc003bqn.1_Missense_Mutation_p.S281G|GRM7_uc010hch.1_Missense_Mutation_p.S209G	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	698	Cytoplasmic (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	CAGACTCATAAGCCCAACATC	0.433													G	7620685	A	G	7620685	3	3	72	1	0	0	0	0	1	0	0	0	6802	72	3	3	2122	3	GRM7	3	7620685	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08		7620685	190401745	68	48945											
SRGAP3	9901	broad.mit.edu	37	chr3	9027555	9027555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctggcgcctgcttgaccGtgttctgcctctcgagttcc	10	15	3	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr3:9027555G>A	uc003brf.1	-	22	3624	c.2948C>T	c.(2947-2949)ACG>ATG	p.T983M	SRGAP3_uc003brg.1_Missense_Mutation_p.T959M	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	983	Potential.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CTGCTTGACCGTGTTCTGCCT	0.642			T	RAF1	pilocytic astrocytoma								A	9027555	G	A	9027555	3	1	72	1	0	0	0	0	1	0	0	0	15146	1145	40	1	355	1	SRGAP3	3	9027555	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	1406870	9027555	188994875	69	48946											
KCNH8	131096	broad.mit.edu	37	chr3	19554711	19554711	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcaaattcccccaaaAccaagcaggaaattgacccc	6	15	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr3:19554711A>C	uc003cbk.1	+	13	2524	c.2329A>C	c.(2329-2331)ACC>CCC	p.T777P	KCNH8_uc010hex.1_Missense_Mutation_p.T238P	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	777	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						TTCCCCCAAAACCAAGCAGGA	0.468													C	19554711	A	C	19554711	3	2	72	1	0	0	0	0	1	0	0	0	8038	43	2	5	2379	5	KCNH8	3	19554711	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	10527156	19554711	178467719	70	48947											
DCLK3	85443	broad.mit.edu	37	chr3	36778860	36778861	+	Silent	DNP	GG	GG	AA													tcctccctgcacgtactccaGgatcaggtagatttccatgt							TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr3:36778860_36778861GG>AA	uc003cgi.2	-	2	1781_1782	c.1290_1291CC>TT	c.(1288-1293)ATCCTG>ATTTTG	p.430_431IL>IL		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	430_431	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						ACGTACTCCAGGATCAGGTAGA	0.49													AA	36778861	GG	AA	36778860	2	1	72	1	0	0	0	0	0	0	0	1	4293	991	35	4		4	DCLK3	3	36778860	Silent	DNP	GG	TCGA-BR-8297-01A-12D-2340-08	17224149	36778860	161243570	71	48948											
XYLB	9942	broad.mit.edu	37	chr3	38390119	38390119	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgacagagatcttccagaaTttgggtatgtacttgatgtg	11	5	1	4			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr3:38390119T>A	uc003cic.2	+	2	245	c.136T>A	c.(136-138)TTT>ATT	p.F46I	XYLB_uc011ayp.1_5'UTR	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	46					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TCTTCCAGAATTTGGGTATGT	0.438													A	38390119	T	A	38390119	3	1	72	1	0	0	0	0	1	0	0	0	17459	1493	52	5	142	5	XYLB	3	38390119	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	1611259	38390119	159632311	72	48949											
MYRIP	25924	broad.mit.edu	37	chr3	40085715	40085715	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagagctgctgctcctaCcagaagcacgaaaaggcctg	11	12	0	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr3:40085715C>G	uc003cka.2	+	3	420	c.285C>G	c.(283-285)TAC>TAG	p.Y95*	MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Nonsense_Mutation_p.Y95*|MYRIP_uc010hhw.2_Missense_Mutation_p.T52S|MYRIP_uc010hhx.1_Nonsense_Mutation_p.Y95*	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	95	FYVE-type.|RabBD.				intracellular protein transport		actin binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GCTGCTCCTACCAGAAGCACG	0.552													G	40085715	C	G	40085715	4	3	72	1	0	0	0	0	0	1	0	0	10100	518	18	5	291	5	MYRIP	3	40085715	Nonsense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	1695596	40085715	157936715	73	48950											
ERC2	26059	broad.mit.edu	37	chr3	56207504	56207504	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgacagtctggagagccttCgtcttggctggctccggctg	14	11	2	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr3:56207504C>T	uc003dhr.1	-	4	1375	c.1119G>A	c.(1117-1119)ACG>ACA	p.T373T		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	373	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GGAGAGCCTTCGTCTTGGCTG	0.488													T	56207504	C	T	56207504	2	4	72	1	0	0	0	0	0	0	0	1	5211	871	31	1		1	ERC2	3	56207504	Silent	SNP	C	TCGA-BR-8297-01A-12D-2340-08	16121789	56207504	141814926	74	48951											
CNTN3	5067	broad.mit.edu	37	chr3	74316425	74316425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaaacttactttatatcCtgttacttctgactcattct	4	9	3	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr3:74316425C>T	uc003dpm.1	-	20	2889	c.2809G>A	c.(2809-2811)GGA>AGA	p.G937R		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	937	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACTTTATATCCTGTTACTTCT	0.353													T	74316425	C	T	74316425	3	4	72	1	0	0	0	0	1	0	0	0	3642	690	24	4	289	4	CNTN3	3	74316425	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	18108921	74316425	123706005	75	48952											
ROBO1	6091	broad.mit.edu	37	chr3	78700930	78700930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtccgtttctcttcttgcGgtgtcgataaagccagatgc	10	10	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr3:78700930G>A	uc003dqe.2	-	19	2972	c.2764C>T	c.(2764-2766)CGC>TGC	p.R922C	ROBO1_uc003dqb.2_Missense_Mutation_p.R883C|ROBO1_uc003dqc.2_Missense_Mutation_p.R886C|ROBO1_uc003dqd.2_Missense_Mutation_p.R886C|ROBO1_uc010hoh.2_Missense_Mutation_p.R114C|ROBO1_uc011bgl.1_Missense_Mutation_p.R494C	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	922	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CTCTTCTTGCGGTGTCGATAA	0.433													A	78700930	G	A	78700930	3	1	72	1	0	0	0	0	1	0	0	0	13513	1116	39	1	2243	1	ROBO1	3	78700930	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	4384505	78700930	119321500	76	48953											
HTR1F	3355	broad.mit.edu	37	chr3	88039930	88039930	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaattcatctgatcaaaacTtgacctcagaggaactgtta	6	8	4	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr3:88039930T>G	uc003dqr.2	+	2	189	c.31T>G	c.(31-33)TTG>GTG	p.L11V		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	11	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TGATCAAAACTTGACCTCAGA	0.368													G	88039930	T	G	88039930	3	3	72	1	0	0	0	0	1	0	0	0	7440	1606	56	5	33	5	HTR1F	3	88039930	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	9339000	88039930	109982500	77	48954											
HTR1F	3355	broad.mit.edu	37	chr3	88040909	88040909	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttttggcatggcttgggtAtctcaattcccttataaatc	7	8	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr3:88040909A>C	uc003dqr.2	+	2	1168	c.1010A>C	c.(1009-1011)TAT>TCT	p.Y337S		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	337	Helical; Name=7; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TGGCTTGGGTATCTCAATTCC	0.313													C	88040909	A	C	88040909	3	2	72	1	0	0	0	0	1	0	0	0	7440	449	16	5	1012	5	HTR1F	3	88040909	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	979	88040909	109981521	78	48955											
IGSF11	152404	broad.mit.edu	37	chr3	118645003	118645003	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctaacttctcccaaaggtaAgttggtcgaggaatgccttc	9	10	2	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr3:118645003A>G	uc003ebw.2	-	4	772	c.525T>C	c.(523-525)ACT>ACC	p.T175T	IGSF11_uc011biv.1_Silent_p.T175T|IGSF11_uc003ebx.2_Silent_p.T175T|IGSF11_uc003eby.2_Silent_p.T174T|IGSF11_uc003ebz.2_Silent_p.T174T|IGSF11_uc010hqs.2_Silent_p.T174T	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	175	Ig-like C2-type.|Extracellular (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0						CCCAAAGGTAAGTTGGTCGAG	0.478													G	118645003	A	G	118645003	2	3	72	1	0	0	0	0	0	0	0	1	7598	59	3	3		3	IGSF11	3	118645003	Silent	SNP	A	TCGA-BR-8297-01A-12D-2340-08	30604094	118645003	79377427	79	48956											
POLQ	10721	broad.mit.edu	37	chr3	121151768	121151768	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcattgcaaaaatacctgAacaacatcttcttctgccac	4	12	3	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr3:121151768A>G	uc003eee.3	-	29	7785	c.7656T>C	c.(7654-7656)GTT>GTC	p.V2552V	POLQ_uc003eed.2_Silent_p.V1724V	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	2552					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		AAAATACCTGAACAACATCTT	0.438								DNA_polymerases_(catalytic_subunits)					G	121151768	A	G	121151768	2	3	72	1	0	0	0	0	0	0	0	1	12208	233	9	3		3	POLQ	3	121151768	Silent	SNP	A	TCGA-BR-8297-01A-12D-2340-08	2506765	121151768	76870662	80	48957											
PLXNA1	5361	broad.mit.edu	37	chr3	126751404	126751404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctccaacaagctgctctaCgccaaggacatccccaacta	5	18	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr3:126751404C>T	uc003ejg.2	+	29	5341	c.5337C>T	c.(5335-5337)TAC>TAT	p.Y1779Y	PLXNA1_uc003ejh.2_Silent_p.Y447Y	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1802	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		AGCTGCTCTACGCCAAGGACA	0.642													T	126751404	C	T	126751404	2	4	72	1	0	0	0	0	0	0	0	1	12119	547	19	1		1	PLXNA1	3	126751404	Silent	SNP	C	TCGA-BR-8297-01A-12D-2340-08	5599636	126751404	71271026	81	48958											
KY	339855	broad.mit.edu	37	chr3	134338003	134338003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgtacctgcacattctctCgaagaggccagcatagccat	8	14	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr3:134338003C>T	uc010hty.2	-	8	759	c.697G>A	c.(697-699)GAG>AAG	p.E233K	KY_uc011blw.1_Missense_Mutation_p.E233K|KY_uc011blx.1_Missense_Mutation_p.E212K|KY_uc003eqr.1_5'UTR	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	233						cytoskeleton|Z disc	peptidase activity			ovary(2)	2						CACATTCTCTCGAAGAGGCCA	0.577													T	134338003	C	T	134338003	3	4	72	1	0	0	0	0	1	0	0	0	8586	893	31	1	1304	1	KY	3	134338003	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	7586599	134338003	63684427	82	48959											
PAQR9	344838	broad.mit.edu	37	chr3	142681901	142681901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcaggaacagcagcagcGggatgaagtgcgtccagaag	15	9	1	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr3:142681901G>A	uc003evg.2	-	1	278	c.278C>T	c.(277-279)CCG>CTG	p.P93L	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	93	Helical; (Potential).					integral to membrane	receptor activity				0						CAGCAGCAGCGGGATGAAGTG	0.642													A	142681901	G	A	142681901	3	1	72	1	0	0	0	0	1	0	0	0	11442	1116	39	1	859	1	PAQR9	3	142681901	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	8343898	142681901	55340529	83	48960											
P2RY13	53829	broad.mit.edu	37	chr3	151046239	151046239	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccatttgatgccatttcagcCccagaggcccctttaaggaa	8	13	1	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr3:151046239C>G	uc003eyv.2	-	2	626	c.605G>C	c.(604-606)GGG>GCG	p.G202A	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	202	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(3)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CCATTTCAGCCCCAGAGGCCC	0.383													G	151046239	C	G	151046239	3	3	72	1	0	0	0	0	1	0	0	0	11350	623	22	5	463	5	P2RY13	3	151046239	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	8364338	151046239	46976191	84	48961											
GPR160	26996	broad.mit.edu	37	chr3	169802666	169802666	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacaagcttaatttaaaAgacattggattacctttgga	7	6	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr3:169802666A>C	uc003fgi.2	+	4	1496	c.906A>C	c.(904-906)AAA>AAC	p.K302N	GPR160_uc010hwq.2_Missense_Mutation_p.K302N	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	302	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTAATTTAAAAGACATTGGAT	0.328													C	169802666	A	C	169802666	3	2	72	1	0	0	0	0	1	0	0	0	6664	69	3	5	908	5	GPR160	3	169802666	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	18756427	169802666	28219764	85	48962											
NAALADL2	254827	broad.mit.edu	37	chr3	175520892	175520892	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaaatgagacccttcaAgaagccctgtcagaggtgtt	10	10	3	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr3:175520892A>G	uc003fit.2	+	14	2376	c.2289A>G	c.(2287-2289)CAA>CAG	p.Q763Q		NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	763	Extracellular (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AGACCCTTCAAGAAGCCCTGT	0.438													G	175520892	A	G	175520892	2	3	72	1	0	0	0	0	0	0	0	1	10130	69	3	3		3	NAALADL2	3	175520892	Silent	SNP	A	TCGA-BR-8297-01A-12D-2340-08	5718226	175520892	22501538	86	48963											
FGF12	2257	broad.mit.edu	37	chr3	191861866	191861866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagaacttttccttgaacGcccttgtttttctccaattt	4	12	1	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr3:191861866G>A	uc003fsx.2	-	5	1490	c.664C>T	c.(664-666)CGT>TGT	p.R222C	FGF12_uc003fsy.2_Missense_Mutation_p.R160C	NM_021032	NP_066360	P61328	FGF12_HUMAN	fibroblast growth factor 12 isoform 1	222					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			ovary(1)|skin(1)|lung(1)|pancreas(1)	4	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TTCCTTGAACGCCCTTGTTTT	0.328													A	191861866	G	A	191861866	3	1	72	1	0	0	0	0	1	0	0	0	5841	1087	38	1	71	1	FGF12	3	191861866	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	16340974	191861866	6160564	87	48964											
KIAA0226	9711	broad.mit.edu	37	chr3	197402382	197402382	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatgaagcctttggcttggCagagctggggaggaaaaaca	15	6	0	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr3:197402382C>A	uc003fyc.2	-	19	2834	c.2651G>T	c.(2650-2652)TGC>TTC	p.C884F	KIAA0226_uc003fyd.3_Missense_Mutation_p.C839F|MIR922_hsa-mir-922|MI0005714_5'Flank	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	884	Cys-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TTTGGCTTGGCAGAGCTGGGG	0.542													A	197402382	C	A	197402382	3	1	72	1	0	0	0	0	1	0	0	0	8162	710	25	5	275	5	KIAA0226	3	197402382	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	5540516	197402382	620048	88	48965											
ZNF595	152687	broad.mit.edu	37	chr4	87099	87099	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccctacaaatgcaaagaaTgtggcaaagcctataactta	6	9	0	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr4:87099T>C	uc003fzv.1	+	6	1861	c.1705T>C	c.(1705-1707)TGT>CGT	p.C569R	ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.C337R|ZNF595_uc011but.1_Missense_Mutation_p.C337R	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN	zinc finger protein 595	569					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		ATGCAAAGAATGTGGCAAAGC	0.393													C	87099	T	C	87099	3	2	72	1	0	0	0	0	1	0	0	0	18022	1461	51	3	1718	3	ZNF595	4	87099	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08		87099	191067177	89	48966											
OTOP1	133060	broad.mit.edu	37	chr4	4199804	4199804	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagttgggggcgtgcagtTacactgcggtgtgtggtcat	17	7	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr4:4199804T>C	uc003ghp.1	-	5	787	c.757A>G	c.(757-759)AAC>GAC	p.N253D		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	253					biomineral tissue development	extracellular space|integral to membrane				ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCGTGCAGTTACACTGCGGT	0.522													C	4199804	T	C	4199804	3	2	72	1	0	0	0	0	1	0	0	0	11305	1754	61	3	1089	3	OTOP1	4	4199804	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	4112705	4199804	186954472	90	48967											
CD38	952	broad.mit.edu	37	chr4	15839770	15839770	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctcaatggatcccgcagtaAaatctttgacaaaaacaggt	8	9	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr4:15839770A>T	uc011bxc.1	+	5	748	c.641A>T	c.(640-642)AAA>ATA	p.K214I	CD38_uc003gol.1_Missense_Mutation_p.K214I	NM_001775	NP_001766	P28907	CD38_HUMAN	CD38 antigen	214	Extracellular (Potential).				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			ovary(2)	2						TCCCGCAGTAAAATCTTTGAC	0.368													T	15839770	A	T	15839770	3	4	72	1	0	0	0	0	1	0	0	0	3009	14	1	5	659	5	CD38	4	15839770	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	11639966	15839770	175314506	91	48968											
KIAA1211	57482	broad.mit.edu	37	chr4	57182545	57182545	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacaaaatgccactggcacaAaagccagcactggctcccaa	7	14	0	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr4:57182545A>T	uc003hbk.2	+	8	3268	c.2877A>T	c.(2875-2877)CAA>CAT	p.Q959H	KIAA1211_uc010iha.2_Missense_Mutation_p.Q952H|KIAA1211_uc011bzz.1_Missense_Mutation_p.Q869H|KIAA1211_uc003hbm.1_Missense_Mutation_p.Q845H	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	959	Pro-rich.									ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					CACTGGCACAAAAGCCAGCAC	0.637													T	57182545	A	T	57182545	3	4	72	1	0	0	0	0	1	0	0	0	8215	11	1	5	2895	5	KIAA1211	4	57182545	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	41342775	57182545	133971731	92	48969											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68956353	68956353	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcaaggtaatagaaagacTtatcatctgaaaggtaaaac	9	5	2	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr4:68956353T>G	uc003hdt.1	-	3	219	c.170A>C	c.(169-171)AAG>ACG	p.K57T		NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	57	SEA.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						ATAGAAAGACTTATCATCTGA	0.333													G	68956353	T	G	68956353	3	3	72	1	0	0	0	0	1	0	0	0	16240	1609	56	5	1178	5	TMPRSS11F	4	68956353	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	11773808	68956353	122197923	93	48970											
C4orf31	79625	broad.mit.edu	37	chr4	121958019	121958019	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgactttttggtgagaAgagactggagcaaaccgtag	14	5	0	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr4:121958019A>T	uc003idq.1	-	4	1634	c.1107T>A	c.(1105-1107)TCT>TCA	p.S369S		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	369											0						TTTGGTGAGAAGAGACTGGAG	0.413													T	121958019	A	T	121958019	2	4	72	1	0	0	0	0	0	0	0	1	2261	59	3	5		5	C4orf31	4	121958019	Silent	SNP	A	TCGA-BR-8297-01A-12D-2340-08	53001666	121958019	69196257	94	48971											
FAT4	79633	broad.mit.edu	37	chr4	126372719	126372719	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgactgtcagtgaaggagaAgtcatggaaaacaaacggcc	12	8	2	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr4:126372719A>C	uc003ifj.3	+	9	10548	c.10548A>C	c.(10546-10548)GAA>GAC	p.E3516D	FAT4_uc011cgp.1_Missense_Mutation_p.E1814D|FAT4_uc003ifi.1_Missense_Mutation_p.E994D	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3516	Cadherin 34.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GTGAAGGAGAAGTCATGGAAA	0.478													C	126372719	A	C	126372719	3	2	72	1	0	0	0	0	1	0	0	0	5692	69	3	5	10582	5	FAT4	4	126372719	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	4414700	126372719	64781557	95	48972											
FAT4	79633	broad.mit.edu	37	chr4	126411303	126411303	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaatggtggcagctgtgaGccaggcctgcactccggctt	14	12	0	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr4:126411303G>T	uc003ifj.3	+	17	13326	c.13326G>T	c.(13324-13326)GAG>GAT	p.E4442D	FAT4_uc011cgp.1_Missense_Mutation_p.E2683D|FAT4_uc003ifi.1_Missense_Mutation_p.E1919D	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4442	EGF-like 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GCAGCTGTGAGCCAGGCCTGC	0.612													T	126411303	G	T	126411303	3	4	72	1	0	0	0	0	1	0	0	0	5692	962	34	5	13392	5	FAT4	4	126411303	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	38584	126411303	64742973	96	48973											
OTUD4	54726	broad.mit.edu	37	chr4	146067479	146067479	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatagagtaaacgggattcTtctatagcttgcttctctct	7	9	5	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr4:146067479T>G	uc003ika.3	-	14	1305	c.1167A>C	c.(1165-1167)GAA>GAC	p.E389D	OTUD4_uc003ijz.3_Missense_Mutation_p.E388D	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	453							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					AACGGGATTCTTCTATAGCTT	0.413													G	146067479	T	G	146067479	3	3	72	1	0	0	0	0	1	0	0	0	11314	1606	56	5	2014	5	OTUD4	4	146067479	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	19656176	146067479	45086797	97	48974											
DCHS2	54798	broad.mit.edu	37	chr4	155219157	155219157	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgcagccagatagggaaGtattctgaagatggattttg	12	5	1	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr4:155219157G>A	uc003inw.2	-	18	4944	c.4944C>T	c.(4942-4944)TAC>TAT	p.Y1648Y		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1648	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGATAGGGAAGTATTCTGAAG	0.408													A	155219157	G	A	155219157	2	1	72	1	0	0	0	0	0	0	0	1	4288	1024	36	4		4	DCHS2	4	155219157	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08	9151678	155219157	35935119	98	48975											
NPY2R	4887	broad.mit.edu	37	chr4	156135632	156135632	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatcagtgccctgctggcaAgtcccctggccatcttccgg	11	16	2	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr4:156135632A>C	uc003ioq.2	+	2	1036	c.541A>C	c.(541-543)AGT>CGT	p.S181R	NPY2R_uc003ior.2_Missense_Mutation_p.S181R	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	181	Helical; Name=4; (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			lung(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0854)				CCTGCTGGCAAGTCCCCTGGC	0.552													C	156135632	A	C	156135632	3	2	72	1	0	0	0	0	1	0	0	0	10609	72	3	5	543	5	NPY2R	4	156135632	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	916475	156135632	35018644	99	48976											
TMEM192	201931	broad.mit.edu	37	chr4	166000876	166000876	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaatcgcttactcagcagCgcattgtgtcgcttcaggta	9	11	2	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr4:166000876C>T	uc003iqz.3	-	6	849	c.750G>A	c.(748-750)GCG>GCA	p.A250A		NM_001100389	NP_001093859	Q8IY95	TM192_HUMAN	transmembrane protein 192	250	Cytoplasmic (Potential).					Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		TACTCAGCAGCGCATTGTGTC	0.453													T	166000876	C	T	166000876	2	4	72	1	0	0	0	0	0	0	0	1	16112	755	27	1		1	TMEM192	4	166000876	Silent	SNP	C	TCGA-BR-8297-01A-12D-2340-08	9865244	166000876	25153400	100	48977											
TLL1	7092	broad.mit.edu	37	chr4	166935691	166935691	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggagatatcgcacaggcaAgaaagctgtatagatgtcca	11	7	0	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr4:166935691A>G	uc003irh.1	+	8	1668	c.1021A>G	c.(1021-1023)AGA>GGA	p.R341G	TLL1_uc011cjn.1_Missense_Mutation_p.R341G|TLL1_uc011cjo.1_Missense_Mutation_p.R165G	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	341	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CGCACAGGCAAGAAAGCTGTA	0.448													G	166935691	A	G	166935691	3	3	72	1	0	0	0	0	1	0	0	0	15942	64	3	3	1051	3	TLL1	4	166935691	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	934815	166935691	24218585	101	48978											
BRD9	65980	broad.mit.edu	37	chr5	876276	876276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatctggtccaggaggtcGtccaccactttcttgctgta	11	11	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr5:876276G>A	uc003jbq.2	-	12	1490	c.1323C>T	c.(1321-1323)GAC>GAT	p.D441D	BRD9_uc003jbl.2_Silent_p.D325D|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Silent_p.D388D|BRD9_uc003jbo.2_Silent_p.D345D|BRD9_uc003jbp.2_Silent_p.D102D|BRD9_uc011cmc.1_RNA	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	bromodomain containing 9 isoform 1	441							nucleic acid binding				0			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CCAGGAGGTCGTCCACCACTT	0.627													A	876276	G	A	876276	2	1	72	1	0	0	0	0	0	0	0	1	1507	1136	40	1		1	BRD9	5	876276	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08		876276	180038984	102	48979											
SEMA5A	9037	broad.mit.edu	37	chr5	9108375	9108375	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccagaacatgtgtgggggAcatagcaaatgttcattgca	12	7	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr5:9108375A>G	uc003jek.2	-	16	2662	c.1950T>C	c.(1948-1950)TGT>TGC	p.C650C		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	650	TSP type-1 2.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						TGTGTGGGGGACATAGCAAAT	0.512													G	9108375	A	G	9108375	2	3	72	1	0	0	0	0	0	0	0	1	14037	273	10	3		3	SEMA5A	5	9108375	Silent	SNP	A	TCGA-BR-8297-01A-12D-2340-08	8232099	9108375	171806885	103	48980											
DNAH5	1767	broad.mit.edu	37	chr5	13736033	13736033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtagaggatgctgccccGcgtagccactggaagacaaa	13	10	0	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr5:13736033G>A	uc003jfd.2	-	67	11506	c.11464C>T	c.(11464-11466)CGG>TGG	p.R3822W	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3822					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)					ATGCTGCCCCGCGTAGCCACT	0.443									Kartagener_syndrome				A	13736033	G	A	13736033	3	1	72	1	0	0	0	0	1	0	0	0	4604	1086	38	1	2462	1	DNAH5	5	13736033	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	4627658	13736033	167179227	104	48981											
RXFP3	51289	broad.mit.edu	37	chr5	33937122	33937122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtactgggtggtgtgcGccctggggttggcgggcaac	20	8	0	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr5:33937122G>A	uc003jic.1	+	1	634	c.277G>A	c.(277-279)GCC>ACC	p.A93T		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	93	Helical; Name=1; (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						GGTGGTGTGCGCCCTGGGGTT	0.662													A	33937122	G	A	33937122	3	1	72	1	0	0	0	0	1	0	0	0	13761	1087	38	1	279	1	RXFP3	5	33937122	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	20201089	33937122	146978138	105	48982											
CMYA5	202333	broad.mit.edu	37	chr5	79034410	79034410	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaggatgattcataccaAccgatagctgcagaagggga	13	7	1	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr5:79034410A>C	uc003kgc.2	+	2	9894	c.9822A>C	c.(9820-9822)CAA>CAC	p.Q3274H		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3274						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATTCATACCAACCGATAGCTG	0.438													C	79034410	A	C	79034410	3	2	72	1	0	0	0	0	1	0	0	0	3590	40	2	5	9828	5	CMYA5	5	79034410	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	45097288	79034410	101880850	106	48983											
DMXL1	1657	broad.mit.edu	37	chr5	118484496	118484496	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttatttattggcaacttcaTgttcagatgagaaagtaaga	8	5	2	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr5:118484496T>G	uc003ksd.2	+	18	3155	c.2974T>G	c.(2974-2976)TGT>GGT	p.C992G	DMXL1_uc010jcl.1_Missense_Mutation_p.C992G	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	992	WD 8.									ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GGCAACTTCATGTTCAGATGA	0.348													G	118484496	T	G	118484496	3	3	72	1	0	0	0	0	1	0	0	0	4594	1464	51	5	3044	5	DMXL1	5	118484496	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	39450086	118484496	62430764	107	48984											
ACSL6	23305	broad.mit.edu	37	chr5	131324527	131324527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtagcggatagccccaGggcccagggtgtcatagagc	15	10	1	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr5:131324527G>A	uc010jdo.1	-	6	631	c.548C>T	c.(547-549)CCT>CTT	p.P183L	ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.P208L|ACSL6_uc003kvy.1_Missense_Mutation_p.P208L|ACSL6_uc003kwb.2_Missense_Mutation_p.P173L|ACSL6_uc003kvz.1_Missense_Mutation_p.P148L|ACSL6_uc003kwa.1_Missense_Mutation_p.P194L|ACSL6_uc010jdn.1_Missense_Mutation_p.P183L|ACSL6_uc010jdp.1_5'Flank	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	183	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GATAGCCCCAGGGCCCAGGGT	0.602													A	131324527	G	A	131324527	3	1	72	1	0	0	0	0	1	0	0	0	181	1000	35	4	1691	4	ACSL6	5	131324527	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	12840031	131324527	49590733	108	48985											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720706	140720706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgctggcacaagtcacGcctgctgcaggcttcaggag	15	13	2	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr5:140720706G>A	uc003ljk.1	+	1	2353	c.2168G>A	c.(2167-2169)CGC>CAC	p.R723H	PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Missense_Mutation_p.R723H|PCDHGA3_uc011dap.1_5'Flank	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	723	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAAGTCACGCCTGCTGCAG	0.642													A	140720706	G	A	140720706	3	1	72	1	0	0	0	0	1	0	0	0	11554	1087	38	1	2170	1	PCDHGA2	5	140720706	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	9396179	140720706	40194554	109	48986											
FAT2	2196	broad.mit.edu	37	chr5	150908750	150908750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccttaccgtgaggatgaCgtcacccacaagggcattct	10	12	2	2	rs114070271	byFrequency	TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr5:150908750C>T	uc003lue.3	-	14	10028	c.10015G>A	c.(10015-10017)GTC>ATC	p.V3339I	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.V32I	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3339	Cadherin 30.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGAGGATGACGTCACCCACA	0.517													T	150908750	C	T	150908750	3	4	72	1	0	0	0	0	1	0	0	0	5690	536	19	1	3074	1	FAT2	5	150908750	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	10188044	150908750	30006510	110	48987											
STC2	8614	broad.mit.edu	37	chr5	172750412	172750412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggccttacatttcaaggCgtctttgatgaatgacttgc	11	8	2	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr5:172750412C>T	uc003mco.1	-	3	1626	c.316G>A	c.(316-318)GCC>ACC	p.A106T	STC2_uc003mcn.1_Missense_Mutation_p.A21T	NM_003714	NP_003705	O76061	STC2_HUMAN	stanniocalcin 2 precursor	106					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			skin(2)|ovary(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CATTTCAAGGCGTCTTTGATG	0.567													T	172750412	C	T	172750412	3	4	72	1	0	0	0	0	1	0	0	0	15275	768	27	1	600	1	STC2	5	172750412	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	21841662	172750412	8164848	111	48988											
FAF2	23197	broad.mit.edu	37	chr5	175916030	175916030	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgatacttgatatatttaggTatgtacctttggatttatgt	8	4	0	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr5:175916030T>G	uc003mej.3	+	4	397	c.344_splice	c.e4+2	p.R115_splice		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	UBX domain containing 8						response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			ovary(1)	1						TATATTTAGGTATGTACCTTT	0.343													G	175916030	T	G	175916030	5	3	72	1	0	0	0	0	0	0	1	0	5370	1652	57	5	360	5	FAF2	5	175916030	Splice_Site	SNP	T	TCGA-BR-8297-01A-12D-2340-08	3165618	175916030	4999230	112	48989											
GFOD1	54438	broad.mit.edu	37	chr6	13365511	13365511	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatcgctggtgatctgtcGgatgcccttgatgtggtcag	14	9	3	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr6:13365511G>A	uc003nat.1	-	2	1302	c.637C>T	c.(637-639)CGA>TGA	p.R213*	GFOD1_uc003nas.1_Nonsense_Mutation_p.R110*	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain	213						extracellular region	binding|oxidoreductase activity			ovary(2)	2	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GTGATCTGTCGGATGCCCTTG	0.592													A	13365511	G	A	13365511	4	1	72	1	0	0	0	0	0	1	0	0	6343	1124	39	1	539	1	GFOD1	6	13365511	Nonsense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08		13365511	157749556	113	48990											
ZNF311	282890	broad.mit.edu	37	chr6	28963505	28963505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttaggtctgagctccgaCtgaaggcccttccacacttg	10	13	1	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr6:28963505C>T	uc003nlu.2	-	7	1787	c.1274G>A	c.(1273-1275)AGT>AAT	p.S425N	ZNF311_uc011dlk.1_Missense_Mutation_p.S333N|ZNF311_uc003nlv.2_Missense_Mutation_p.S333N	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	425	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						TGAGCTCCGACTGAAGGCCCT	0.512													T	28963505	C	T	28963505	3	4	72	1	0	0	0	0	1	0	0	0	17831	565	20	4	730	4	ZNF311	6	28963505	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	15597994	28963505	142151562	114	48991											
BRPF3	27154	broad.mit.edu	37	chr6	36181694	36181694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccgccaaccctggagccCactgggcctgcaccttcctt	8	20	0	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr6:36181694C>T	uc003olv.3	+	8	2744	c.2520C>T	c.(2518-2520)CCC>CCT	p.P840P	BRPF3_uc010jwb.2_Intron|BRPF3_uc011dtj.1_Intron|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Intron	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	840					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						CCCTGGAGCCCACTGGGCCTG	0.493													T	36181694	C	T	36181694	2	4	72	1	0	0	0	0	0	0	0	1	1521	581	21	4		4	BRPF3	6	36181694	Silent	SNP	C	TCGA-BR-8297-01A-12D-2340-08	7218189	36181694	134933373	115	48992											
C6orf138	442213	broad.mit.edu	37	chr6	47847330	47847330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggaaccacacaggtttgCgatccaggtattctgcagaa	10	10	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr6:47847330C>T	uc011dwm.1	-	3	1284	c.1199G>A	c.(1198-1200)CGC>CAC	p.R400H	C6orf138_uc011dwn.1_Missense_Mutation_p.R164H	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	417						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1						CACAGGTTTGCGATCCAGGTA	0.507													T	47847330	C	T	47847330	3	4	72	1	0	0	0	0	1	0	0	0	2332	768	27	1	1294	1	C6orf138	6	47847330	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	11665636	47847330	123267737	116	48993											
LAMA2	3908	broad.mit.edu	37	chr6	129511389	129511389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtagtcgttgcaaatccGgcttcttcaatttgcaagag	9	9	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr6:129511389G>A	uc003qbn.2	+	11	1612	c.1507G>A	c.(1507-1509)GGC>AGC	p.G503S	LAMA2_uc003qbo.2_Missense_Mutation_p.G503S	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	503	Laminin EGF-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTGCAAATCCGGCTTCTTCAA	0.433													A	129511389	G	A	129511389	3	1	72	1	0	0	0	0	1	0	0	0	8606	1116	39	1	1549	1	LAMA2	6	129511389	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	81664059	129511389	41603678	117	48994											
TMEM200A	114801	broad.mit.edu	37	chr6	130762908	130762908	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gataggttgcttgtgccccaAgttgccatcaaaaaggactt	10	9	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr6:130762908A>C	uc003qca.2	+	3	2212	c.1341A>C	c.(1339-1341)CAA>CAC	p.Q447H	TMEM200A_uc010kfh.2_Missense_Mutation_p.Q447H|TMEM200A_uc010kfi.2_Missense_Mutation_p.Q447H|TMEM200A_uc003qcb.2_Missense_Mutation_p.Q447H	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	447	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TTGTGCCCCAAGTTGCCATCA	0.393													C	130762908	A	C	130762908	3	2	72	1	0	0	0	0	1	0	0	0	16120	69	3	5	1343	5	TMEM200A	6	130762908	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	1251519	130762908	40352159	118	48995											
SYNE1	23345	broad.mit.edu	37	chr6	152718078	152718078	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgagtcactgcatcaAgtttgctctgcccatcactg	7	13	5	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr6:152718078A>T	uc010kiw.2	-	50	7990	c.7388T>A	c.(7387-7389)CTT>CAT	p.L2463H	SYNE1_uc003qot.3_Missense_Mutation_p.L2470H|SYNE1_uc003qou.3_Missense_Mutation_p.L2463H|SYNE1_uc010kjb.1_Missense_Mutation_p.L2446H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2463	Spectrin 4.|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)		CACTGCATCAAGTTTGCTCTG	0.383										HNSCC(10;0.0054)			T	152718078	A	T	152718078	3	4	72	1	0	0	0	0	1	0	0	0	15442	72	3	5	19466	5	SYNE1	6	152718078	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	21955170	152718078	18396989	119	48996											
PLG	5340	broad.mit.edu	37	chr6	161158022	161158022	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcctggccctggcaAgtcagtcttagaacaaggta	9	12	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr6:161158022A>G	uc003qtm.3	+	14	1848	c.1785A>G	c.(1783-1785)CAA>CAG	p.Q595Q		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	595	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGCCCTGGCAAGTCAGTCTTA	0.502													G	161158022	A	G	161158022	2	3	72	1	0	0	0	0	0	0	0	1	12086	69	3	3		3	PLG	6	161158022	Silent	SNP	A	TCGA-BR-8297-01A-12D-2340-08	8439944	161158022	9957045	120	48997											
QKI	9444	broad.mit.edu	37	chr6	163984719	163984719	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccagctacatcaatccTtgagtatcctattgaaccta	6	12	1	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr6:163984719T>G	uc003qui.2	+	6	1453	c.902T>G	c.(901-903)CTT>CGT	p.L301R	QKI_uc003que.2_Missense_Mutation_p.L301R|QKI_uc003quf.2_Missense_Mutation_p.L301R|QKI_uc003qug.2_Missense_Mutation_p.L301R|QKI_uc003quh.2_Missense_Mutation_p.L293R|QKI_uc003quj.2_Missense_Mutation_p.L293R	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform	301					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		ACATCAATCCTTGAGTATCCT	0.433													G	163984719	T	G	163984719	3	3	72	1	0	0	0	0	1	0	0	0	12873	1609	56	5	924	5	QKI	6	163984719	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	2826697	163984719	7130348	121	48998											
TNRC18	84629	broad.mit.edu	37	chr7	5363972	5363972	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcagcttgctcacggcaccCcccttgccgcggttctgggg	12	16	3	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:5363972C>G	uc003soi.3	-	21	6664	c.6315G>C	c.(6313-6315)GGG>GGC	p.G2105G		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2105							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCACGGCACCCCCCTTGCCGC	0.622													G	5363972	C	G	5363972	2	3	72	1	0	0	0	0	0	0	0	1	16336	610	22	5		5	TNRC18	7	5363972	Silent	SNP	C	TCGA-BR-8297-01A-12D-2340-08		5363972	153774691	122	48999											
DNAH11	8701	broad.mit.edu	37	chr7	21760426	21760426	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagtttatgaagtctatttTgtatttgcttgtatctgggc	10	4	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:21760426T>G	uc003svc.2	+	45	7270	c.7239T>G	c.(7237-7239)TTT>TTG	p.F2413L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2413					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AAGTCTATTTTGTATTTGCTT	0.393									Kartagener_syndrome				G	21760426	T	G	21760426	3	3	72	1	0	0	0	0	1	0	0	0	4599	1809	63	5	7414	5	DNAH11	7	21760426	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	16396454	21760426	137378237	123	49000											
BMPER	168667	broad.mit.edu	37	chr7	34182850	34182850	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcctataggtcctgtgTgacagacatgtgtgaatgtc	13	7	0	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:34182850T>C	uc011kap.1	+	14	1868	c.1754T>C	c.(1753-1755)GTG>GCG	p.V585A		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	585					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3						AGGTCCTGTGTGACAGACATG	0.413													C	34182850	T	C	34182850	3	2	72	1	0	0	0	0	1	0	0	0	1468	1696	59	3	1808	3	BMPER	7	34182850	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	12422424	34182850	124955813	124	49001											
SFRP4	6424	broad.mit.edu	37	chr7	37955820	37955820	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatgaggggctcgcagTcgtcgcgcgcgcgttggcac	15	13	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:37955820T>C	uc003tfo.3	-	1	706	c.320A>G	c.(319-321)GAC>GGC	p.D107G		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	107	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(1)	1						GGGCTCGCAGTCGTCGCGCGC	0.617													C	37955820	T	C	37955820	3	2	72	1	0	0	0	0	1	0	0	0	14163	1667	58	3	744	3	SFRP4	7	37955820	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	3772970	37955820	121182843	125	49002											
C7orf10	79783	broad.mit.edu	37	chr7	40899936	40899936	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagctgtgagatacagtaAgttcaagatgtcagaggcca	11	9	2	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:40899936A>C	uc003thn.1	+	14	1220	c.1175A>C	c.(1174-1176)AAG>ACG	p.K392T	C7orf10_uc003thm.1_Missense_Mutation_p.K388T|C7orf10_uc003tho.1_Missense_Mutation_p.K344T|C7orf10_uc003thp.1_RNA	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN	dermal papilla derived protein 13	399							transferase activity			ovary(2)	2						AGATACAGTAAGTTCAAGATG	0.547													C	40899936	A	C	40899936	3	2	72	1	0	0	0	0	1	0	0	0	2376	72	3	5	1221	5	C7orf10	7	40899936	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	2944116	40899936	118238727	126	49003											
GLI3	2737	broad.mit.edu	37	chr7	42116369	42116369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatatgcaatggaggaatcGgagatggatcgtaatggtaa	13	4	0	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:42116369G>A	uc011kbh.1	-	4	546	c.455C>T	c.(454-456)CCG>CTG	p.P152L	GLI3_uc011kbg.1_Missense_Mutation_p.P93L	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	152					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						TGGAGGAATCGGAGATGGATC	0.428									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42116369	G	A	42116369	3	1	72	1	0	0	0	0	1	0	0	0	6439	1116	39	1	4335	1	GLI3	7	42116369	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	1216433	42116369	117022294	127	49004											
ADCY1	107	broad.mit.edu	37	chr7	45753498	45753498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagggcagacgtcccccCgtgtgccccatgcctggcgt	12	17	1	1	rs144524280		TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:45753498C>T	uc003tne.3	+	20	3282	c.3264C>T	c.(3262-3264)CCC>CCT	p.P1088P		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	1088	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GACGTCCCCCCGTGTGCCCCA	0.622													T	45753498	C	T	45753498	2	4	72	1	0	0	0	0	0	0	0	1	292	639	23	1		1	ADCY1	7	45753498	Silent	SNP	C	TCGA-BR-8297-01A-12D-2340-08	3637129	45753498	113385165	128	49005											
IKZF1	10320	broad.mit.edu	37	chr7	50459470	50459470	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgaaatggcagaagacctGtgcaagataggatcagagag	14	5	1	5			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:50459470G>T	uc003tow.3	+	8	927	c.759G>T	c.(757-759)CTG>CTT	p.L253L	IKZF1_uc003tox.3_Silent_p.L211L|IKZF1_uc003toy.3_Silent_p.L211L|IKZF1_uc011kck.1_Silent_p.L166L|IKZF1_uc003toz.3_Silent_p.L223L|IKZF1_uc010kyx.2_Intron|IKZF1_uc003tpa.3_Silent_p.L5L	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	253					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(74)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CAGAAGACCTGTGCAAGATAG	0.418			D		ALL								T	50459470	G	T	50459470	2	4	72	1	0	0	0	0	0	0	0	1	7614	1364	48	5		5	IKZF1	7	50459470	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08	4705972	50459470	108679193	129	49006											
ZNF680	340252	broad.mit.edu	37	chr7	63982821	63982821	+	Missense_Mutation	SNP	A	A	T													ctctcagtatcactttttgaAaagaatcttttatgctatgc							TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:63982821A>T	uc003tta.2	-	4	484	c.311T>A	c.(310-312)TTT>TAT	p.F104Y	ZNF680_uc010kzr.2_Missense_Mutation_p.F31Y	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	zinc finger protein 680 isoform 1	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.118)|all_lung(88;0.243)				CACTTTTTGAAAAGAATCTTT	0.328													T	63982821	A	T	63982821	3	4	72	1	0	0	0	0	1	0	0	0	18084	14	1	5	1285	5	ZNF680	7	63982821	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	13523351	63982821	95155842	130	49007	188	2									
ZNF680	340252	broad.mit.edu	37	chr7	63982823	63982823	+	Silent	SNP	A	A	T													ctcagtatcactttttgaaaAgaatcttttatgctatgctc							TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:63982823A>T	uc003tta.2	-	4	482	c.309T>A	c.(307-309)TCT>TCA	p.S103S	ZNF680_uc010kzr.2_Silent_p.S30S	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	zinc finger protein 680 isoform 1	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.118)|all_lung(88;0.243)				CTTTTTGAAAAGAATCTTTTA	0.333													T	63982823	A	T	63982823	2	4	72	1	0	0	0	0	0	0	0	1	18084	59	3	5		5	ZNF680	7	63982823	Silent	SNP	A	TCGA-BR-8297-01A-12D-2340-08	2	63982823	95155840	131	49008	188	2									
WBSCR17	64409	broad.mit.edu	37	chr7	70800597	70800597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggtaaagggggccttccGgctactctttccccggctga	14	13	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:70800597G>A	uc003tvy.2	+	2	300	c.300G>A	c.(298-300)CCG>CCA	p.P100P	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	100	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGGGCCTTCCGGCTACTCTTT	0.458													A	70800597	G	A	70800597	2	1	72	1	0	0	0	0	0	0	0	1	17261	1103	39	1		1	WBSCR17	7	70800597	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08	6817774	70800597	88338066	132	49009											
WBSCR17	64409	broad.mit.edu	37	chr7	71175770	71175770	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgctacaccaaggaaggcTtcctgcacttgggtgccctg	11	15	0	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:71175770T>G	uc003tvy.2	+	10	1525	c.1525T>G	c.(1525-1527)TTC>GTC	p.F509V	WBSCR17_uc003tvz.2_Missense_Mutation_p.F208V	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	509	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CAAGGAAGGCTTCCTGCACTT	0.632													G	71175770	T	G	71175770	3	3	72	1	0	0	0	0	1	0	0	0	17261	1609	56	5	1563	5	WBSCR17	7	71175770	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	375173	71175770	87962893	133	49010											
HGF	3082	broad.mit.edu	37	chr7	81355304	81355304	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggtgattcagacccatctGgatttcggcagtaattttct	10	8	3	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:81355304G>T	uc003uhl.2	-	9	1235	c.1070C>A	c.(1069-1071)CCA>CAA	p.P357Q	HGF_uc003uhm.2_Missense_Mutation_p.P352Q	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	357	Kringle 3.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						AGACCCATCTGGATTTCGGCA	0.428													T	81355304	G	T	81355304	3	4	72	1	0	0	0	0	1	0	0	0	7085	1348	47	5	1156	5	HGF	7	81355304	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	10179534	81355304	77783359	134	49011											
PCLO	27445	broad.mit.edu	37	chr7	82585193	82585193	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aattctggctcttcgtcaaaAtacaaacttgtttttttctg	5	8	4	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:82585193A>C	uc003uhx.2	-	5	5365	c.5076T>G	c.(5074-5076)TAT>TAG	p.Y1692*	PCLO_uc003uhv.2_Nonsense_Mutation_p.Y1692*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1623					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTTCGTCAAAATACAAACTTG	0.438													C	82585193	A	C	82585193	4	2	72	1	0	0	0	0	0	1	0	0	11583	108	4	5	10453	5	PCLO	7	82585193	Nonsense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	1229889	82585193	76553470	135	49012											
GRM3	2913	broad.mit.edu	37	chr7	86468784	86468784	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gactcgggctggggagttccTtcgctatctgttactcagcc	12	12	2	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:86468784T>G	uc003uid.2	+	4	3053	c.1954T>G	c.(1954-1956)TTC>GTC	p.F652V	GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.F524V|GRM3_uc010leh.2_Missense_Mutation_p.F244V	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	652	Helical; Name=3; (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGGGAGTTCCTTCGCTATCTG	0.527													G	86468784	T	G	86468784	3	3	72	1	0	0	0	0	1	0	0	0	6798	1609	56	5	1964	5	GRM3	7	86468784	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	3883591	86468784	72669879	136	49013											
ABCB1	5243	broad.mit.edu	37	chr7	87196226	87196226	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccagctgccaggcaccaAaatgaaacctgaatgtaagc	8	12	0	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:87196226A>C	uc003uiz.1	-	7	823	c.405T>G	c.(403-405)TTT>TTG	p.F135L	ABCB1_uc011khc.1_Intron	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	135	ABC transmembrane type-1 1.|Helical; (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCAGGCACCAAAATGAAACCT	0.423													C	87196226	A	C	87196226	3	2	72	1	0	0	0	0	1	0	0	0	40	11	1	5	3529	5	ABCB1	7	87196226	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	727442	87196226	71942437	137	49014											
TFPI2	7980	broad.mit.edu	37	chr7	93519622	93519622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcaggagacagatctccGcgttatttcctgaagaaggg	15	8	1	4			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:93519622G>A	uc003umy.1	-	2	173	c.98C>T	c.(97-99)GCG>GTG	p.A33V	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Missense_Mutation_p.A33V|TFPI2_uc003una.1_Intron|TFPI2_uc003unb.1_Missense_Mutation_p.A33V|TFPI2_uc010lfg.1_Intron	NM_006528	NP_006519	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2 precursor	33					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			pancreas(1)	1	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			ACAGATCTCCGCGTTATTTCC	0.572													A	93519622	G	A	93519622	3	1	72	1	0	0	0	0	1	0	0	0	15806	1087	38	1	625	1	TFPI2	7	93519622	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	6323396	93519622	65619041	138	49015											
ZKSCAN1	7586	broad.mit.edu	37	chr7	99631029	99631029	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggaagatcccagaaagagTttggagagaaacgtgaccag	13	7	0	5			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:99631029T>G	uc003usk.1	+	6	1120	c.901T>G	c.(901-903)TTT>GTT	p.F301V	ZKSCAN1_uc003usl.1_Missense_Mutation_p.F265V|ZKSCAN1_uc003usm.1_Missense_Mutation_p.F88V	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	zinc finger protein 36	301					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CCAGAAAGAGTTTGGAGAGAA	0.483													G	99631029	T	G	99631029	3	3	72	1	0	0	0	0	1	0	0	0	17683	1725	60	5	919	5	ZKSCAN1	7	99631029	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	6111407	99631029	59507634	139	49016											
RELN	5649	broad.mit.edu	37	chr7	103207203	103207203	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catttgaatactgaacaataAgccctgagttaaaagacata	6	7	0	4			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:103207203A>C	uc003vca.2	-	32	4752	c.4592T>G	c.(4591-4593)CTT>CGT	p.L1531R	RELN_uc010liz.2_Missense_Mutation_p.L1531R	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1531					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGAACAATAAGCCCTGAGTT	0.408													C	103207203	A	C	103207203	3	2	72	1	0	0	0	0	1	0	0	0	13220	72	3	5	5926	5	RELN	7	103207203	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	3576174	103207203	55931460	140	49017											
RELN	5649	broad.mit.edu	37	chr7	103275919	103275919	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatgctccaggagtttccaAgttatcccattatcataaga	6	9	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:103275919A>G	uc003vca.2	-	19	2578	c.2418T>C	c.(2416-2418)ACT>ACC	p.T806T	RELN_uc010liz.2_Silent_p.T806T	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	806	BNR 2.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGAGTTTCCAAGTTATCCCAT	0.443													G	103275919	A	G	103275919	2	3	72	1	0	0	0	0	0	0	0	1	13220	59	3	3		3	RELN	7	103275919	Silent	SNP	A	TCGA-BR-8297-01A-12D-2340-08	68716	103275919	55862744	141	49018											
GPR85	54329	broad.mit.edu	37	chr7	112724143	112724143	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactggcttcatttttcttcGatcgtggacgaaaaatatca	8	8	3	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:112724143G>A	uc010ljv.2	-	2	1151	c.634C>T	c.(634-636)CGA>TGA	p.R212*	GPR85_uc003vgp.1_Nonsense_Mutation_p.R212*|GPR85_uc003vgq.2_Nonsense_Mutation_p.R212*|GPR85_uc010ljw.1_Nonsense_Mutation_p.R212*	NM_001146266	NP_001139738	P60893	GPR85_HUMAN	G protein-coupled receptor 85	212	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)	2						ATTTTTCTTCGATCGTGGACG	0.493													A	112724143	G	A	112724143	4	1	72	1	0	0	0	0	0	1	0	0	6715	1066	37	1	482	1	GPR85	7	112724143	Nonsense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	9448224	112724143	46414520	142	49019											
PTPRZ1	5803	broad.mit.edu	37	chr7	121652018	121652018	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagccatataccaatacctaAgtcttcgttaataaccccaa	3	12	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:121652018A>C	uc003vjy.2	+	12	3313	c.2918A>C	c.(2917-2919)AAG>ACG	p.K973T	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	973	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						CCAATACCTAAGTCTTCGTTA	0.443													C	121652018	A	C	121652018	3	2	72	1	0	0	0	0	1	0	0	0	12814	72	3	5	2964	5	PTPRZ1	7	121652018	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	8927875	121652018	37486645	143	49020											
AASS	10157	broad.mit.edu	37	chr7	121717962	121717962	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccatggctgaaaagccattGatgtccccataagccacaag	9	12	0	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:121717962G>A	uc003vka.2	-	22	2688	c.2592C>T	c.(2590-2592)ATC>ATT	p.I864I	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.I864I|AASS_uc011knw.1_Silent_p.I352I	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	864	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	AAAAGCCATTGATGTCCCCAT	0.433													A	121717962	G	A	121717962	2	1	72	1	0	0	0	0	0	0	0	1	24	1280	45	4		4	AASS	7	121717962	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08	65944	121717962	37420701	144	49021											
TAS2R16	50833	broad.mit.edu	37	chr7	122635196	122635196	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagtttgtcagttacagTgctgtttcttggtagatgct	10	6	3	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:122635196T>C	uc003vkl.1	-	1	559	c.493A>G	c.(493-495)ACT>GCT	p.T165A		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	165	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2						TCAGTTACAGTGCTGTTTCTT	0.403													C	122635196	T	C	122635196	3	2	72	1	0	0	0	0	1	0	0	0	15566	1696	59	3	386	3	TAS2R16	7	122635196	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	917234	122635196	36503467	145	49022											
CHRM2	1129	broad.mit.edu	37	chr7	136700570	136700570	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccattccaaagatgagaacTctaagcaaacatgcatcaga	7	10	2	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:136700570T>A	uc003vtf.1	+	4	1581	c.958T>A	c.(958-960)TCT>ACT	p.S320T	CHRM2_uc003vtg.1_Missense_Mutation_p.S320T|CHRM2_uc003vtj.1_Missense_Mutation_p.S320T|CHRM2_uc003vtk.1_Missense_Mutation_p.S320T|CHRM2_uc003vtl.1_Missense_Mutation_p.S320T|CHRM2_uc003vtm.1_Missense_Mutation_p.S320T|CHRM2_uc003vti.1_Missense_Mutation_p.S320T|CHRM2_uc003vto.1_Missense_Mutation_p.S320T|CHRM2_uc003vtn.1_Missense_Mutation_p.S320T|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	320	Cytoplasmic (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AGATGAGAACTCTAAGCAAAC	0.463													A	136700570	T	A	136700570	3	1	72	1	0	0	0	0	1	0	0	0	3377	1551	54	5	960	5	CHRM2	7	136700570	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	14065374	136700570	22438093	146	49023											
DGKI	9162	broad.mit.edu	37	chr7	137076050	137076050	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagccaagtctgggtccccAgcctgctgtgctctttcttg	11	14	3	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:137076050A>G	uc003vtt.2	-	34	3115	c.3114T>C	c.(3112-3114)GCT>GCC	p.A1038A	DGKI_uc003vtu.2_Silent_p.A707A	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	1038					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						CTGGGTCCCCAGCCTGCTGTG	0.463													G	137076050	A	G	137076050	2	3	72	1	0	0	0	0	0	0	0	1	4471	175	7	3		3	DGKI	7	137076050	Silent	SNP	A	TCGA-BR-8297-01A-12D-2340-08	375480	137076050	22062613	147	49024											
CNTNAP2	26047	broad.mit.edu	37	chr7	146741127	146741127	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcattggactcagaattgaAgtttatggctgttcttactg	10	7	2	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:146741127A>C	uc003weu.1	+	4	1047	c.531A>C	c.(529-531)GAA>GAC	p.E177D		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	177	F5/8 type C.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCAGAATTGAAGTTTATGGCT	0.378										HNSCC(39;0.1)			C	146741127	A	C	146741127	3	2	72	1	0	0	0	0	1	0	0	0	3647	69	3	5	545	5	CNTNAP2	7	146741127	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	9665077	146741127	12397536	148	49025											
CNTNAP2	26047	broad.mit.edu	37	chr7	146997356	146997356	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taatagtccccttcaagttaAaactggcgagaagtactttt	7	8	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:146997356A>C	uc003weu.1	+	9	1988	c.1472A>C	c.(1471-1473)AAA>ACA	p.K491T		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	491	Extracellular (Potential).|Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTTCAAGTTAAAACTGGCGAG	0.388										HNSCC(39;0.1)			C	146997356	A	C	146997356	3	2	72	1	0	0	0	0	1	0	0	0	3647	14	1	5	1506	5	CNTNAP2	7	146997356	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	256229	146997356	12141307	149	49026											
CHPF2	54480	broad.mit.edu	37	chr7	150932222	150932222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacactgtccactttggccGtggctgtgaaccgtacggtg	12	12	0	1	rs138209627		TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:150932222G>A	uc003wjr.1	+	2	1865	c.352G>A	c.(352-354)GTG>ATG	p.V118M	CHPF2_uc003wjq.1_Missense_Mutation_p.V110M	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	118	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1						CACTTTGGCCGTGGCTGTGAA	0.627													A	150932222	G	A	150932222	3	1	72	1	0	0	0	0	1	0	0	0	3369	1145	40	1	358	1	CHPF2	7	150932222	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	3934866	150932222	8206441	150	49027											
UBE3C	9690	broad.mit.edu	37	chr7	157060400	157060400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacgagacacttttgcgaaGtaaacttctctatgcgattg	9	8	1	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr7:157060400G>A	uc010lqs.2	+	23	3515	c.3203G>A	c.(3202-3204)AGT>AAT	p.S1068N	UBE3C_uc003wni.3_Missense_Mutation_p.S431N	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	1068	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(2)|large_intestine(1)	5		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CTTTTGCGAAGTAAACTTCTC	0.547													A	157060400	G	A	157060400	3	1	72	1	0	0	0	0	1	0	0	0	16878	1029	36	4	3293	4	UBE3C	7	157060400	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	6128178	157060400	2078263	151	49028											
CSMD1	64478	broad.mit.edu	37	chr8	2806830	2806830	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtgcaacttaccttgcctttCtagcttaaattttccaaagt	5	10	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr8:2806830C>G	uc011kwk.1	-	68	10786	c.10396G>C	c.(10396-10398)GAA>CAA	p.E3466Q	CSMD1_uc011kwj.1_Missense_Mutation_p.E2780Q|CSMD1_uc010lrg.2_Missense_Mutation_p.E1357Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3466	Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTTGCCTTTCTAGCTTAAAT	0.343													G	2806830	C	G	2806830	3	3	72	1	0	0	0	0	1	0	0	0	3944	922	32	5	313	5	CSMD1	8	2806830	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08		2806830	143557192	152	49029											
CSMD1	64478	broad.mit.edu	37	chr8	2807839	2807839	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaagctttcaggagtaAgtgggcctcctccttcttgt	10	9	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr8:2807839A>C	uc011kwk.1	-	67	10621	c.10231T>G	c.(10231-10233)TTA>GTA	p.L3411V	CSMD1_uc011kwj.1_Missense_Mutation_p.L2725V|CSMD1_uc010lrg.2_Missense_Mutation_p.L1302V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3411	Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCAGGAGTAAGTGGGCCTCC	0.398													C	2807839	A	C	2807839	3	2	72	1	0	0	0	0	1	0	0	0	3944	69	3	5	482	5	CSMD1	8	2807839	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	1009	2807839	143556183	153	49030											
BMP1	649	broad.mit.edu	37	chr8	22064885	22064885	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctagaggtgttcgacgggCgagacgccaaggcccccgtc	14	14	0	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr8:22064885C>T	uc003xbg.2	+	18	2675	c.2431C>T	c.(2431-2433)CGA>TGA	p.R811*	BMP1_uc011kzc.1_Nonsense_Mutation_p.R560*|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	811	CUB 4.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GTTCGACGGGCGAGACGCCAA	0.612													T	22064885	C	T	22064885	4	4	72	1	0	0	0	0	0	1	0	0	1456	760	27	1	2591	1	BMP1	8	22064885	Nonsense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	19257046	22064885	124299137	154	49031											
ANK1	286	broad.mit.edu	37	chr8	41530411	41530411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcaggggacagcagctcGtcctgcagtgaggagtaacc	16	10	0	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr8:41530411G>A	uc003xok.2	-	38	4641	c.4557C>T	c.(4555-4557)GAC>GAT	p.D1519D	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Silent_p.D1519D|ANK1_uc003xoj.2_Silent_p.D1519D|ANK1_uc003xol.2_Intron|ANK1_uc003xom.2_Silent_p.D1560D	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1519	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACAGCAGCTCGTCCTGCAGTG	0.612													A	41530411	G	A	41530411	2	1	72	1	0	0	0	0	0	0	0	1	620	1136	40	1		1	ANK1	8	41530411	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08	19465526	41530411	104833611	155	49032											
MYST3	7994	broad.mit.edu	37	chr8	41836209	41836209	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggacgtcctattggattagTatagcgccgttttatctgtg	11	7	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr8:41836209T>C	uc010lxb.2	-	7	1538	c.994A>G	c.(994-996)ACT>GCT	p.T332A	MYST3_uc010lxc.2_Missense_Mutation_p.T332A|MYST3_uc003xon.3_Missense_Mutation_p.T332A|MYST3_uc010lxd.2_Missense_Mutation_p.T332A	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	332	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			ATTGGATTAGTATAGCGCCGT	0.388													C	41836209	T	C	41836209	3	2	72	1	0	0	0	0	1	0	0	0	10104	1638	57	3	5068	3	MYST3	8	41836209	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	305798	41836209	104527813	156	49033											
SNTG1	54212	broad.mit.edu	37	chr8	51465669	51465669	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgggattattcagtgccTctctgctgaagactgcgttg	11	10	2	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr8:51465669T>G	uc010lxy.1	+	13	1111	c.740T>G	c.(739-741)CTC>CGC	p.L247R	SNTG1_uc003xqs.1_Missense_Mutation_p.L247R|SNTG1_uc010lxz.1_Missense_Mutation_p.L247R|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	247					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ATTCAGTGCCTCTCTGCTGAA	0.428													G	51465669	T	G	51465669	3	3	72	1	0	0	0	0	1	0	0	0	14874	1551	54	5	778	5	SNTG1	8	51465669	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	9629460	51465669	94898353	157	49034											
SOX17	64321	broad.mit.edu	37	chr8	55372478	55372478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actccggtgtgaatctccccGacagccacggggccatttcc	10	16	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr8:55372478G>A	uc003xsb.3	+	2	1372	c.1168G>A	c.(1168-1170)GAC>AAC	p.D390N		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	390	Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GAATCTCCCCGACAGCCACGG	0.607													A	55372478	G	A	55372478	3	1	72	1	0	0	0	0	1	0	0	0	14947	1058	37	1	1174	1	SOX17	8	55372478	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	3906809	55372478	90991544	158	49035											
PREX2	80243	broad.mit.edu	37	chr8	69005938	69005938	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagatgaagcaggggatgcTtttgactgtaaagtagaagg	16	3	0	4			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr8:69005938T>C	uc003xxv.1	+	21	2376	c.2349T>C	c.(2347-2349)GCT>GCC	p.A783A	PREX2_uc003xxu.1_Silent_p.A783A|PREX2_uc011lez.1_Silent_p.A718A	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	783					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CAGGGGATGCTTTTGACTGTA	0.403													C	69005938	T	C	69005938	2	2	72	1	0	0	0	0	0	0	0	1	12477	1596	56	3		3	PREX2	8	69005938	Silent	SNP	T	TCGA-BR-8297-01A-12D-2340-08	13633460	69005938	77358084	159	49036											
JPH1	56704	broad.mit.edu	37	chr8	75156979	75156979	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gccgtcctccacgtctactgGagggtgctggggggcgttca	16	12	2	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr8:75156979G>C	uc003yae.2	-	4	1730	c.1690C>G	c.(1690-1692)CCA>GCA	p.P564A	JPH1_uc003yaf.2_Missense_Mutation_p.P564A|JPH1_uc003yag.1_Missense_Mutation_p.P428A	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	564	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			ACGTCTACTGGAGGGTGCTGG	0.577													C	75156979	G	C	75156979	3	2	72	1	0	0	0	0	1	0	0	0	7960	1174	41	5	303	5	JPH1	8	75156979	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	6151041	75156979	71207043	160	49037											
CRISPLD1	83690	broad.mit.edu	37	chr8	75941706	75941706	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtaatgcctgtggacaaaAgaaagacctacattgcttct	8	8	1	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr8:75941706A>G	uc003yan.2	+	14	1780	c.1405A>G	c.(1405-1407)AGA>GGA	p.R469G	CRISPLD1_uc011lfk.1_Missense_Mutation_p.R281G|CRISPLD1_uc011lfl.1_Missense_Mutation_p.R281G	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	469	LCCL 2.					extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TGTGGACAAAAGAAAGACCTA	0.378													G	75941706	A	G	75941706	3	3	72	1	0	0	0	0	1	0	0	0	3882	64	3	3	1455	3	CRISPLD1	8	75941706	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	784727	75941706	70422316	161	49038											
PGCP	10404	broad.mit.edu	37	chr8	97797433	97797433	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagatgggctggagaaagTtcacctggagccagtgagaa	15	7	1	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr8:97797433T>G	uc003yhw.2	+	2	474	c.308T>G	c.(307-309)GTT>GGT	p.V103G	PGCP_uc010mbe.2_Missense_Mutation_p.V103G	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	plasma glutamate carboxypeptidase precursor	103					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity			upper_aerodigestive_tract(1)	1	Breast(36;1.86e-05)					CTGGAGAAAGTTCACCTGGAG	0.498													G	97797433	T	G	97797433	3	3	72	1	0	0	0	0	1	0	0	0	11786	1725	60	5	310	5	PGCP	8	97797433	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	21855727	97797433	48566589	162	49039											
UBR5	51366	broad.mit.edu	37	chr8	103327016	103327016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caattgaggatgcatcactaCacgtggatgctggagatggt	13	7	1	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr8:103327016C>T	uc003ykr.1	-	15	1883	c.1850G>A	c.(1849-1851)TGT>TAT	p.C617Y	UBR5_uc003yks.1_Missense_Mutation_p.C617Y	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	617					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGCATCACTACACGTGGATGC	0.418													T	103327016	C	T	103327016	3	4	72	1	0	0	0	0	1	0	0	0	16902	478	17	4	6729	4	UBR5	8	103327016	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	5529583	103327016	43037006	163	49040											
RIMS2	9699	broad.mit.edu	37	chr8	105263942	105263942	+	Frame_Shift_Del	DEL	T	T	-													ggtgatcggatggttcaaacTtttcccaccttcctccctag							TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr8:105263941_105263941CT>C	uc003yls.3	+	27	4238	c.3997_3997CT>C	c.(3997-3999)cttfs	p.L1333fs	RIMS2_uc003ylp.3_Frame_Shift_Del_p.L1315fs|RIMS2_uc003ylq.3_Frame_Shift_Del_p.L1129fs|RIMS2_uc003ylr.3_Frame_Shift_Del_p.L1154fs	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1377	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATGGTTCAAACTTTTCCCACC	0.463										HNSCC(12;0.0054)			-	105263942	T	-	105263942	7	5	72	1	0	1	0	1	0	0	0	0	13368	1609	56	0	4234	0	RIMS2	8	105263942	Frame_Shift_Del	DEL	T	TCGA-BR-8297-01A-12D-2340-08	1936926	105263942	41100080	164	49041											
ZFPM2	23414	broad.mit.edu	37	chr8	106800975	106800975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggtgtacaactacgaagGccatctctgagggtgaagag	13	7	1	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr8:106800975G>A	uc003ymd.2	+	6	585	c.562G>A	c.(562-564)GCC>ACC	p.A188T	ZFPM2_uc011lhs.1_5'UTR	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	188					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AACTACGAAGGCCATCTCTGA	0.428													A	106800975	G	A	106800975	3	1	72	1	0	0	0	0	1	0	0	0	17655	1203	42	2	584	2	ZFPM2	8	106800975	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	1537033	106800975	39563047	165	49042											
ANGPT1	284	broad.mit.edu	37	chr8	108334268	108334268	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatgtttgacgagtaaccaAgccttgaaggttctctttct	8	8	2	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr8:108334268A>G	uc003ymn.2	-	4	1132	c.664T>C	c.(664-666)TTG>CTG	p.L222L	ANGPT1_uc011lhv.1_Silent_p.L22L|ANGPT1_uc003ymo.2_Silent_p.L222L|ANGPT1_uc003ymp.3_Silent_p.L22L	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	222	Potential.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CGAGTAACCAAGCCTTGAAGG	0.393													G	108334268	A	G	108334268	2	3	72	1	0	0	0	0	0	0	0	1	610	69	3	3		3	ANGPT1	8	108334268	Silent	SNP	A	TCGA-BR-8297-01A-12D-2340-08	1533293	108334268	38029754	166	49043											
CSMD3	114788	broad.mit.edu	37	chr8	113585834	113585834	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcagtccgcgcatagatGcaccagtaaaagcacctagt	10	11	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr8:113585834G>T	uc003ynu.2	-	24	4097	c.3938C>A	c.(3937-3939)GCA>GAA	p.A1313E	CSMD3_uc003yns.2_Missense_Mutation_p.A585E|CSMD3_uc003ynt.2_Missense_Mutation_p.A1273E|CSMD3_uc011lhx.1_Missense_Mutation_p.A1209E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1313	Extracellular (Potential).|CUB 7.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GCGCATAGATGCACCAGTAAA	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113585834	G	T	113585834	3	4	72	1	0	0	0	0	1	0	0	0	3946	1319	46	5	7377	5	CSMD3	8	113585834	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	5251566	113585834	32778188	167	49044											
CSMD3	114788	broad.mit.edu	37	chr8	114111188	114111188	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attgttcctccacaagcatcTtcagctgttaaaaatgacaa	5	10	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr8:114111188T>G	uc003ynu.2	-	5	873	c.714A>C	c.(712-714)GAA>GAC	p.E238D	CSMD3_uc003ynt.2_Missense_Mutation_p.E198D|CSMD3_uc011lhx.1_Missense_Mutation_p.E238D|CSMD3_uc010mcx.1_Missense_Mutation_p.E238D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	238	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CACAAGCATCTTCAGCTGTTA	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	114111188	T	G	114111188	3	3	72	1	0	0	0	0	1	0	0	0	3946	1606	56	5	10677	5	CSMD3	8	114111188	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	525354	114111188	32252834	168	49045											
TRPS1	7227	broad.mit.edu	37	chr8	116632000	116632000	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcggaaaggagggaaagtTtcctcccttactggggcttt	13	8	0	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr8:116632000T>G	uc003ynz.2	-	2	745	c.286A>C	c.(286-288)AAC>CAC	p.N96H	TRPS1_uc011lhy.1_Missense_Mutation_p.N100H|TRPS1_uc003yny.2_Missense_Mutation_p.N109H|TRPS1_uc010mcy.2_Missense_Mutation_p.N96H	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	96					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAGGGAAAGTTTCCTCCCTTA	0.488									Langer-Giedion_syndrome				G	116632000	T	G	116632000	3	3	72	1	0	0	0	0	1	0	0	0	16590	1841	64	5	3579	5	TRPS1	8	116632000	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	2520812	116632000	29732022	169	49046											
FAM91A1	157769	broad.mit.edu	37	chr8	124801870	124801870	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggttcagagcactggtgaAggagaagcacagagatattt	13	5	1	4			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr8:124801870A>G	uc003yqv.2	+	15	1357	c.1296A>G	c.(1294-1296)GAA>GAG	p.E432E	FAM91A1_uc011lik.1_Silent_p.E432E|FAM91A1_uc011lil.1_Silent_p.E190E	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	432										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GCACTGGTGAAGGAGAAGCAC	0.363													G	124801870	A	G	124801870	2	3	72	1	0	0	0	0	0	0	0	1	5651	69	3	3		3	FAM91A1	8	124801870	Silent	SNP	A	TCGA-BR-8297-01A-12D-2340-08	8169870	124801870	21562152	170	49047											
SCRIB	23513	broad.mit.edu	37	chr8	144891180	144891180	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcagcagtgcgtcctctgCgaaatgcaccgtgggctgtg	16	11	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr8:144891180C>A	uc003yzp.1	-	15	1721	c.1714G>T	c.(1714-1716)GCA>TCA	p.A572S	SCRIB_uc003yzo.1_Missense_Mutation_p.A572S	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	572	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCGTCCTCTGCGAAATGCACC	0.652													A	144891180	C	A	144891180	3	1	72	1	0	0	0	0	1	0	0	0	13937	768	27	5	3345	5	SCRIB	8	144891180	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	20089310	144891180	1472842	171	49048											
IFNB1	3456	broad.mit.edu	37	chr9	21077392	21077392	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atggtccaggcacagtgactGtactccttggccttcaggta	11	11	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr9:21077392G>C	uc003zok.2	-	1	552	c.477C>G	c.(475-477)TAC>TAG	p.Y159*		NM_002176	NP_002167	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast precursor	159					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			ovary(1)|breast(1)|kidney(1)	3				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	CACAGTGACTGTACTCCTTGG	0.443													C	21077392	G	C	21077392	4	2	72	1	0	0	0	0	0	1	0	0	7546	1372	48	5	90	5	IFNB1	9	21077392	Nonsense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08		21077392	120136039	172	49049											
TAF1L	138474	broad.mit.edu	37	chr9	32633779	32633779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattccctccaaaggtgcccCgaagaccctgttgcttgggg	11	13	0	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr9:32633779C>T	uc003zrg.1	-	1	1889	c.1799G>A	c.(1798-1800)CGG>CAG	p.R600Q	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	600					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAAGGTGCCCCGAAGACCCTG	0.488													T	32633779	C	T	32633779	3	4	72	1	0	0	0	0	1	0	0	0	15520	652	23	1	3685	1	TAF1L	9	32633779	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	11556387	32633779	108579652	173	49050											
RORB	6096	broad.mit.edu	37	chr9	77300519	77300519	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctttaatcctgactgtgcCaccggctgcaaatgaagggg	11	11	1	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr9:77300519C>T	uc004aji.2	+	10	1447	c.1398C>T	c.(1396-1398)GCC>GCT	p.A466A	RORB_uc004ajh.2_Silent_p.A455A	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	466	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						CTGACTGTGCCACCGGCTGCA	0.428													T	77300519	C	T	77300519	2	4	72	1	0	0	0	0	0	0	0	1	13529	581	21	4		4	RORB	9	77300519	Silent	SNP	C	TCGA-BR-8297-01A-12D-2340-08	44666740	77300519	63912912	174	49051											
PRUNE2	158471	broad.mit.edu	37	chr9	79320386	79320386	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggataaatgtggatcaccAtcaaacaaagctcttgcacc	8	10	3	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr9:79320386A>G	uc010mpk.2	-	8	6928	c.6804T>C	c.(6802-6804)GAT>GAC	p.D2268D	PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	2268					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						GTGGATCACCATCAAACAAAG	0.463													G	79320386	A	G	79320386	2	3	72	1	0	0	0	0	0	0	0	1	12641	214	8	3		3	PRUNE2	9	79320386	Silent	SNP	A	TCGA-BR-8297-01A-12D-2340-08	2019867	79320386	61893045	175	49052											
ROD1	9991	broad.mit.edu	37	chr9	114997138	114997138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatggctggggcaaatccaGcagcccctgcatatggtgaa	12	11	0	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr9:114997138G>A	uc004bfw.2	-	9	1113	c.926C>T	c.(925-927)GCT>GTT	p.A309V	ROD1_uc004bfv.2_Missense_Mutation_p.A315V|ROD1_uc004bfx.2_Missense_Mutation_p.A312V|ROD1_uc011lwu.1_Missense_Mutation_p.A281V|ROD1_uc004bfy.2_Missense_Mutation_p.A214V|ROD1_uc004bfz.2_Missense_Mutation_p.A281V	NM_005156	NP_005147	O95758	ROD1_HUMAN	ROD1 regulator of differentiation 1 isoform 1	309					anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding			skin(1)	1						GGCAAATCCAGCAGCCCCTGC	0.378													A	114997138	G	A	114997138	3	1	72	1	0	0	0	0	1	0	0	0	13519	971	34	2	760	2	ROD1	9	114997138	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	35676752	114997138	26216293	176	49053											
TLR4	7099	broad.mit.edu	37	chr9	120475898	120475898	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacagagctgagaaacTtgaccttcctggacctctct	7	13	3	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr9:120475898T>G	uc004bjz.2	+	3	1783	c.1492T>G	c.(1492-1494)TTG>GTG	p.L498V	TLR4_uc004bka.2_Missense_Mutation_p.L458V|TLR4_uc004bkb.2_Missense_Mutation_p.L298V	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	498	LRR 16.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						GCTGAGAAACTTGACCTTCCT	0.448													G	120475898	T	G	120475898	3	3	72	1	0	0	0	0	1	0	0	0	15950	1606	56	5	1502	5	TLR4	9	120475898	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	5478760	120475898	20737533	177	49054											
DBC1	1620	broad.mit.edu	37	chr9	122075621	122075621	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagtagaggagctcaacaaAcctccagttcatgcttttct	8	10	3	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr9:122075621A>C	uc004bkc.2	-	2	469	c.13T>G	c.(13-15)TTT>GTT	p.F5V	DBC1_uc004bkd.2_Missense_Mutation_p.F5V	NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	5					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						AGCTCAACAAACCTCCAGTTC	0.418													C	122075621	A	C	122075621	3	2	72	1	0	0	0	0	1	0	0	0	4247	43	2	5	2300	5	DBC1	9	122075621	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	1599723	122075621	19137810	178	49055											
BAT2L1	84726	broad.mit.edu	37	chr9	134305594	134305594	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaaagcaagtactcgactctCagcctgtttgataagtataa	7	8	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr9:134305594C>G	uc004can.3	+	1	118	c.63C>G	c.(61-63)CTC>CTG	p.L21L	BAT2L1_uc004cam.1_Silent_p.L21L	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	21							protein binding				0						ACTCGACTCTCAGCCTGTTTG	0.453													G	134305594	C	G	134305594	2	3	72	1	0	0	0	0	0	0	0	1	1320	813	29	5		5	BAT2L1	9	134305594	Silent	SNP	C	TCGA-BR-8297-01A-12D-2340-08	12229973	134305594	6907837	179	49056											
C9orf9	11092	broad.mit.edu	37	chr9	135762799	135762799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaacagctccacagaccGgcgggttctgctcatgttcc	10	15	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr9:135762799G>A	uc004cbx.1	+	3	299	c.188G>A	c.(187-189)CGG>CAG	p.R63Q	C9orf9_uc004cby.1_Missense_Mutation_p.R63Q|C9orf9_uc004cbz.1_Missense_Mutation_p.R63Q	NM_018956	NP_061829	Q96E40	CI009_HUMAN	Rsb-66 protein	63								p.?(1)			0				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		TCCACAGACCGGCGGGTTCTG	0.597													A	135762799	G	A	135762799	3	1	72	1	0	0	0	0	1	0	0	0	2504	1116	39	1	194	1	C9orf9	9	135762799	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	1457205	135762799	5450632	180	49057											
CARD9	64170	broad.mit.edu	37	chr9	139265018	139265018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccgggcctggagcagggCcttctcctgctgcagctccc	12	18	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr9:139265018C>T	uc004chg.3	-	5	929	c.763G>A	c.(763-765)GCC>ACC	p.A255T	CARD9_uc011mdw.1_Missense_Mutation_p.A255T|CARD9_uc011mdx.1_Missense_Mutation_p.A151T	NM_052813	NP_434700	Q9H257	CARD9_HUMAN	caspase recruitment domain protein 9 isoform 1	255	Potential.				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			pancreas(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TGGAGCAGGGCCTTCTCCTGC	0.706													T	139265018	C	T	139265018	3	4	72	1	0	0	0	0	1	0	0	0	2652	739	26	2	936	2	CARD9	9	139265018	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	3502219	139265018	1948413	181	49058											
PTCHD3	374308	broad.mit.edu	37	chr10	27703150	27703150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggcttctgctccggcccCggcctgggcttgggctccac	14	16	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr10:27703150C>T	uc001itu.2	-	1	148	c.30G>A	c.(28-30)CCG>CCA	p.P10P		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	10					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						GCTCCGGCCCCGGCCTGGGCT	0.622													T	27703150	C	T	27703150	2	4	72	1	0	0	0	0	0	0	0	1	12734	639	23	1		1	PTCHD3	10	27703150	Silent	SNP	C	TCGA-BR-8297-01A-12D-2340-08		27703150	107831597	182	49059											
ANKRD30A	91074	broad.mit.edu	37	chr10	37421204	37421204	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttactatccataacgaaaAgaagtgagcaaattgtggaa	8	5	0	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr10:37421204A>G	uc001iza.1	+	4	478	c.379A>G	c.(379-381)AGA>GGA	p.R127G		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	183	ANK 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						CATAACGAAAAGAAGTGAGCA	0.289													G	37421204	A	G	37421204	3	3	72	1	0	0	0	0	1	0	0	0	658	64	3	3	393	3	ANKRD30A	10	37421204	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	9718054	37421204	98113543	183	49060											
PCDH15	65217	broad.mit.edu	37	chr10	55581852	55581852	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgaggatgccttttggTtctctctgagggtctgtttt	12	7	4	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr10:55581852T>G	uc001jju.1	-	33	6029	c.5634A>C	c.(5632-5634)GAA>GAC	p.E1878D	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.E732D|PCDH15_uc010qhv.1_Missense_Mutation_p.E1875D|PCDH15_uc010qhw.1_Missense_Mutation_p.E1838D|PCDH15_uc010qhx.1_Missense_Mutation_p.E1809D|PCDH15_uc010qhy.1_Missense_Mutation_p.E1885D|PCDH15_uc010qhz.1_Missense_Mutation_p.E1880D|PCDH15_uc010qia.1_Missense_Mutation_p.E1858D|PCDH15_uc010qib.1_Missense_Mutation_p.E1855D	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1878	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCCTTTTGGTTCTCTCTGAG	0.393										HNSCC(58;0.16)			G	55581852	T	G	55581852	3	3	72	1	0	0	0	0	1	0	0	0	11511	1722	60	5	1843	5	PCDH15	10	55581852	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	18160648	55581852	79952895	184	49061											
DDX50	79009	broad.mit.edu	37	chr10	70666568	70666568	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgctcccaaggccaaaaaAtctaaaatgaaagagaagct	8	8	1	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr10:70666568A>G	uc001jou.2	+	2	296	c.189A>G	c.(187-189)AAA>AAG	p.K63K	DDX50_uc001jot.2_Silent_p.K63K|DDX50_uc010qjc.1_Silent_p.K63K	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	nucleolar protein GU2	63						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1						AGGCCAAAAAATCTAAAATGA	0.378													G	70666568	A	G	70666568	2	3	72	1	0	0	0	0	0	0	0	1	4368	98	4	3		3	DDX50	10	70666568	Silent	SNP	A	TCGA-BR-8297-01A-12D-2340-08	15084716	70666568	64868179	185	49062											
GRID1	2894	broad.mit.edu	37	chr10	87489289	87489289	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagacagtcaccactttaAgagtcaatccttggaggcgg	10	11	2	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr10:87489289A>G	uc001kdl.1	-	9	1417	c.1316T>C	c.(1315-1317)CTT>CCT	p.L439P	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.L10P	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	439	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	CACCACTTTAAGAGTCAATCC	0.512										Multiple Myeloma(13;0.14)			G	87489289	A	G	87489289	3	3	72	1	0	0	0	0	1	0	0	0	6771	72	3	3	1745	3	GRID1	10	87489289	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	16822721	87489289	48045458	186	49063											
AGAP11	119385	broad.mit.edu	37	chr10	88768495	88768495	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcaagcttaggtgattatatGaagaatattcataaaaaaga	7	3	2	4			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr10:88768495G>T	uc001kee.2	+	12	1690	c.486G>T	c.(484-486)ATG>ATT	p.M162I	AGAP11_uc001kef.2_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase	162	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						GTGATTATATGAAGAATATTC	0.443													T	88768495	G	T	88768495	3	4	72	1	0	0	0	0	1	0	0	0	367	1290	45	5	500	5	AGAP11	10	88768495	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	1279206	88768495	46766252	187	49064											
CC2D2B	387707	broad.mit.edu	37	chr10	97791581	97791581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtctttgatccaggtcaCgggatttcccatccagatgc	9	12	3	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr10:97791581C>T	uc001kll.2	+	9	984	c.785C>T	c.(784-786)ACG>ATG	p.T262M	uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_RNA|CC2D2B_uc010qop.1_Missense_Mutation_p.T341M|uc009xvb.1_Intron	NM_001001732	NP_001001732	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B isoform	262										ovary(1)	1		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		ATCCAGGTCACGGGATTTCCC	0.388													T	97791581	C	T	97791581	3	4	72	1	0	0	0	0	1	0	0	0	2729	536	19	1	1060	1	CC2D2B	10	97791581	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	9023086	97791581	37743166	188	49065											
INA	9118	broad.mit.edu	37	chr10	105037931	105037931	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcggcgccagctgcaggcGcgcaccatcgagatcgaggg	15	13	0	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr10:105037931G>A	uc001kws.2	+	1	1012	c.963G>A	c.(961-963)GCG>GCA	p.A321A	uc001kwr.2_5'Flank|INA_uc009xxj.2_Silent_p.A321A	NM_032727	NP_116116	Q16352	AINX_HUMAN	internexin neuronal intermediate filament	321	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			ovary(1)|breast(1)	2				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		AGCTGCAGGCGCGCACCATCG	0.677													A	105037931	G	A	105037931	2	1	72	1	0	0	0	0	0	0	0	1	7730	1074	38	1		1	INA	10	105037931	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08	7246350	105037931	30496816	189	49066											
SORCS1	114815	broad.mit.edu	37	chr10	108923912	108923912	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactccccgggggctccgacTcgcgccctctccccgttctg	10	21	2	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr10:108923912T>C	uc001kym.2	-	1	381	c.373A>G	c.(373-375)AGT>GGT	p.S125G	SORCS1_uc001kyl.2_Missense_Mutation_p.S125G|SORCS1_uc009xxs.2_Missense_Mutation_p.S125G|SORCS1_uc001kyn.1_Missense_Mutation_p.S125G|SORCS1_uc001kyo.2_Missense_Mutation_p.S125G	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	125	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GGGCTCCGACTCGCGCCCTCT	0.701													C	108923912	T	C	108923912	3	2	72	1	0	0	0	0	1	0	0	0	14930	1551	54	3	3471	3	SORCS1	10	108923912	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	3885981	108923912	26610835	190	49067											
C10orf96	374355	broad.mit.edu	37	chr10	118137945	118137945	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttaaaatagacttaaaaaaGaattagaactttataaggaa	5	2	0	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr10:118137945G>C	uc001lck.2	+	8	915	c.664G>C	c.(664-666)GAA>CAA	p.E222Q		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	hypothetical protein LOC374355	222										ovary(2)	2		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)		ACTTAAAAAAGAATTAGAACT	0.279													C	118137945	G	C	118137945	3	2	72	1	0	0	0	0	1	0	0	0	1627	943	33	5	690	5	C10orf96	10	118137945	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	9214033	118137945	17396802	191	49068											
PRLHR	2834	broad.mit.edu	37	chr10	120353892	120353892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagcggcagccagcagaCggcgaacaccaccacgatca	12	15	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr10:120353892C>T	uc001ldp.1	-	2	1004	c.865G>A	c.(865-867)GTC>ATC	p.V289I		NM_004248	NP_004239	P49683	PRLHR_HUMAN	G protein-coupled receptor 10	289	Helical; Name=6; (Potential).				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity				0		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		AGCCAGCAGACGGCGAACACC	0.692													T	120353892	C	T	120353892	3	4	72	1	0	0	0	0	1	0	0	0	12530	536	19	1	251	1	PRLHR	10	120353892	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	2215947	120353892	15180855	192	49069											
CPXM2	119587	broad.mit.edu	37	chr10	125506504	125506504	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccacatactctccagggtTcaggaggcgccagtaatccc	10	14	2	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr10:125506504T>C	uc001lhk.1	-	14	2372	c.2047A>G	c.(2047-2049)AAC>GAC	p.N683D	CPXM2_uc001lhj.2_Intron	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	683					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TCTCCAGGGTTCAGGAGGCGC	0.537													C	125506504	T	C	125506504	3	2	72	1	0	0	0	0	1	0	0	0	3838	1783	62	3	227	3	CPXM2	10	125506504	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	5152612	125506504	10028243	193	49070											
C10orf137	26098	broad.mit.edu	37	chr10	127438041	127438041	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagatcttcattacagcaagGccgcaaagctgtttcagctg	9	11	3	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr10:127438041G>T	uc001liq.1	+	22	3477	c.3184G>T	c.(3184-3186)GCC>TCC	p.A1062S	C10orf137_uc001lio.1_Missense_Mutation_p.A1028S|C10orf137_uc001lip.1_Missense_Mutation_p.A766S|C10orf137_uc001lis.1_Missense_Mutation_p.A388S|C10orf137_uc001lit.1_5'UTR	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	1062					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTACAGCAAGGCCGCAAAGCT	0.463													T	127438041	G	T	127438041	3	4	72	1	0	0	0	0	1	0	0	0	1594	1203	42	5	3164	5	C10orf137	10	127438041	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	1931537	127438041	8096706	194	49071											
EBF3	253738	broad.mit.edu	37	chr10	131666103	131666103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccgtcaaagaagttgtcGccaattatgatgacggtggc	12	9	1	3	rs149960200	by1000genomes	TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr10:131666103G>A	uc001lki.1	-	9	887	c.828C>T	c.(826-828)GGC>GGT	p.G276G		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	285	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		AGAAGTTGTCGCCAATTATGA	0.567													A	131666103	G	A	131666103	2	1	72	1	0	0	0	0	0	0	0	1	4882	1074	38	1		1	EBF3	10	131666103	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08	4228062	131666103	3868644	195	49072											
MUC5B	727897	broad.mit.edu	37	chr11	1270309	1270309	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcactcgactccagccctgTccagccctcaccctagcagc	7	20	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr11:1270309T>C	uc009ycr.1	+	51	13744	c.13618T>C	c.(13618-13620)TCC>CCC	p.S4540P	MUC5B_uc001ltb.2_Missense_Mutation_p.S4070P	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4067	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCAGCCCTGTCCAGCCCTCA	0.687													C	1270309	T	C	1270309	3	2	72	1	0	0	0	0	1	0	0	0	9979	1667	58	3	12330	3	MUC5B	11	1270309	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08		1270309	133736207	196	49073											
IGF2	3481	broad.mit.edu	37	chr11	2154256	2154256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctctgggggggcgcccccGtgggcggggtcttgggtggg	22	10	2	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr11:2154256G>A	uc009yde.2	-	4	607	c.504C>T	c.(502-504)CAC>CAT	p.H168H	IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Silent_p.H168H|IGF2_uc009ydf.2_Silent_p.H224H|IGF2_uc001lvh.2_Silent_p.H168H|INS-IGF2_uc001lvi.2_RNA	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	insulin-like growth factor 2 isoform 1	168					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)	1		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GGGCGCCCCCGTGGGCGGGGT	0.682													A	2154256	G	A	2154256	2	1	72	1	0	0	0	0	0	0	0	1	7572	1136	40	1		1	IGF2	11	2154256	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08	883947	2154256	132852260	197	49074											
OR52R1	119695	broad.mit.edu	37	chr11	4825639	4825639	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatatggtctctgctgggaAcgcaatctactctctgcaga	9	10	3	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr11:4825639A>G	uc010qym.1	-	1	209	c.209T>C	c.(208-210)GTT>GCT	p.V70A		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	Error:Variant_position_missing_in_Q8NGF1_after_alignment					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTGCTGGGAACGCAATCTAC	0.458													G	4825639	A	G	4825639	3	3	72	1	0	0	0	0	1	0	0	0	11131	58	2	3		3	OR52R1	11	4825639	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	2671383	4825639	130180877	198	49075											
OR52N4	390072	broad.mit.edu	37	chr11	5776163	5776163	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaacccatgtactacttcTtggccatgctttcctttact	4	13	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr11:5776163T>C	uc001mbu.2	+	1	241	c.193T>C	c.(193-195)TTG>CTG	p.L65L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N,	65	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GTACTACTTCTTGGCCATGCT	0.448													C	5776163	T	C	5776163	2	2	72	1	0	0	0	0	0	0	0	1	11129	1606	56	3		3	OR52N4	11	5776163	Silent	SNP	T	TCGA-BR-8297-01A-12D-2340-08	950524	5776163	129230353	199	49076											
MRVI1	10335	broad.mit.edu	37	chr11	10648081	10648081	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccagcctgccctgagacActttcctctggtcattctgc	9	15	3	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr11:10648081A>G	uc010rcc.1	-	9	1186	c.800T>C	c.(799-801)GTG>GCG	p.V267A	MRVI1_uc001miw.2_Missense_Mutation_p.V258A|MRVI1_uc010rcb.1_Missense_Mutation_p.V259A|MRVI1_uc009ygb.1_5'UTR|MRVI1_uc001mix.2_5'UTR|MRVI1_uc001miz.2_Missense_Mutation_p.V176A|MRVI1_uc009ygc.1_Missense_Mutation_p.V176A|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_5'UTR|MRVI1_uc010rce.1_Intron	NM_001100167	NP_001093637	Q9Y6F6	MRVI1_HUMAN	JAW1-related protein isoform c	240					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				ovary(2)|central_nervous_system(1)	3				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GCCCTGAGACACTTTCCTCTG	0.532													G	10648081	A	G	10648081	3	3	72	1	0	0	0	0	1	0	0	0	9853	159	6	3	1990	3	MRVI1	11	10648081	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	4871918	10648081	124358435	200	49077											
LRRC4C	57689	broad.mit.edu	37	chr11	40137506	40137506	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccccaatttcaatggttcTgatatggttcctactcaact	6	11	3	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr11:40137506T>C	uc001mxa.1	-	2	2301	c.337A>G	c.(337-339)AGA>GGA	p.R113G	LRRC4C_uc001mxc.1_Missense_Mutation_p.R109G|LRRC4C_uc001mxd.1_Missense_Mutation_p.R109G|LRRC4C_uc001mxb.1_Missense_Mutation_p.R109G	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	113	LRR 2.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCAATGGTTCTGATATGGTTC	0.438													C	40137506	T	C	40137506	3	2	72	1	0	0	0	0	1	0	0	0	9008	1588	55	3	1589	3	LRRC4C	11	40137506	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	29489425	40137506	94869010	201	49078											
CKAP5	9793	broad.mit.edu	37	chr11	46774965	46774965	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcttcaatccgagaatccAgcattaaggtgatgaggcca	10	9	2	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr11:46774965A>C	uc001ndi.1	-	37	5062	c.4952T>G	c.(4951-4953)CTG>CGG	p.L1651R	CKAP5_uc009ylg.1_Missense_Mutation_p.L1537R|CKAP5_uc001ndj.1_Missense_Mutation_p.L1591R|CKAP5_uc001ndh.1_Missense_Mutation_p.L580R	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	1651					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						CCGAGAATCCAGCATTAAGGT	0.493													C	46774965	A	C	46774965	3	2	72	1	0	0	0	0	1	0	0	0	3445	188	7	5	1178	5	CKAP5	11	46774965	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	6637459	46774965	88231551	202	49079											
LRP4	4038	broad.mit.edu	37	chr11	46890212	46890212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catacgaagtccgaggctctGgcaaagcagaggtgggtgca	15	9	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr11:46890212G>A	uc001ndn.3	-	33	5036	c.4890C>T	c.(4888-4890)GCC>GCT	p.A1630A	uc001ndl.2_Intron	NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1630	Extracellular (Potential).				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		CCGAGGCTCTGGCAAAGCAGA	0.567													A	46890212	G	A	46890212	2	1	72	1	0	0	0	0	0	0	0	1	8959	1335	47	4		4	LRP4	11	46890212	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08	115247	46890212	88116304	203	49080											
OR5D16	390144	broad.mit.edu	37	chr11	55606243	55606243	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaacatgtttctgacagagAgaaatacgacatctgaggcc	9	8	2	4			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr11:55606243A>G	uc010rio.1	+	1	16	c.16A>G	c.(16-18)AGA>GGA	p.R6G		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	6	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_epithelial(135;0.208)				TCTGACAGAGAGAAATACGAC	0.413													G	55606243	A	G	55606243	3	3	72	1	0	0	0	0	1	0	0	0	11156	296	11	3	18	3	OR5D16	11	55606243	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	8716031	55606243	79400273	204	49081											
TCN1	6947	broad.mit.edu	37	chr11	59626717	59626717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttcacacaggtcagagCcaggacagccattgcaccag	9	14	3	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr11:59626717C>T	uc001noj.2	-	5	678	c.580G>A	c.(580-582)GCT>ACT	p.A194T		NM_001062	NP_001053	P20061	TCO1_HUMAN	transcobalamin I precursor	194					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			ovary(2)	2		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGGTCAGAGCCAGGACAGCC	0.294													T	59626717	C	T	59626717	3	4	72	1	0	0	0	0	1	0	0	0	15703	739	26	2	741	2	TCN1	11	59626717	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	4020474	59626717	75379799	205	49082											
MS4A2	2206	broad.mit.edu	37	chr11	59857259	59857259	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccaccactgcatacatggCtgacagttttgaaaaaagag	8	11	0	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr11:59857259C>A	uc001nop.2	+	2	253	c.151C>A	c.(151-153)CTG>ATG	p.L51M	MS4A2_uc009ymu.2_Missense_Mutation_p.L51M	NM_000139	NP_000130	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member	51	Cytoplasmic (Potential).				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			ovary(1)	1		all_epithelial(135;0.245)			Omalizumab(DB00043)	GCATACATGGCTGACAGTTTT	0.473													A	59857259	C	A	59857259	3	1	72	1	0	0	0	0	1	0	0	0	9860	796	28	5	157	5	MS4A2	11	59857259	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	230542	59857259	75149257	206	49083											
FADS3	3995	broad.mit.edu	37	chr11	61643386	61643387	+	In_Frame_Ins	INS	-	-	CACAGC													gctgaggccgtgcttggcacINSacagcgacttgaccagcggg							TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr11:61643385_61643386A>ACACAGC	uc001nsm.3	-	10	1376_1377	c.1223_1224T>GCTGTGT	c.(1222-1224)tgt>tGCTGTGT	p.408_408C>CC		NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.	408					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGTGCTTGGCACACAGCGACTT	0.649													CACAGC	61643387	-	CACAGC	61643386	7	5	72	1	0	1	1	0	0	0	0	0	5367	478	17	0	122	0	FADS3	11	61643386	In_Frame_Ins	INS	-	TCGA-BR-8297-01A-12D-2340-08	1786127	61643386	73363130	207	49084											
B3GAT3	26229	broad.mit.edu	37	chr11	62383980	62383980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatctccattcccttacccGagtgcagttggcagcccgtg	9	16	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr11:62383980G>A	uc001ntw.2	-	4	936	c.907C>T	c.(907-909)CGG>TGG	p.R303W	B3GAT3_uc009ynz.2_Missense_Mutation_p.R296W|B3GAT3_uc001ntx.2_RNA|B3GAT3_uc010rlz.1_Missense_Mutation_p.R303W	NM_012200	NP_036332	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	303	Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding				0						TCCCTTACCCGAGTGCAGTTG	0.562													A	62383980	G	A	62383980	3	1	72	1	0	0	0	0	1	0	0	0	1255	1057	37	1	108	1	B3GAT3	11	62383980	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	740594	62383980	72622536	208	49085											
SNX32	254122	broad.mit.edu	37	chr11	65617659	65617659	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggccagactttgaggcttcGagggaaaagctacagaaatt	12	7	0	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr11:65617659G>A	uc001ofr.2	+	4	418	c.291G>A	c.(289-291)TCG>TCA	p.S97S	SNX32_uc009yqt.2_3'UTR|SNX32_uc010rop.1_Missense_Mutation_p.R137Q	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	sorting nexin 6B	97	PX.				cell communication|protein transport		phosphatidylinositol binding				0				READ - Rectum adenocarcinoma(159;0.171)		TTGAGGCTTCGAGGGAAAAGC	0.602													A	65617659	G	A	65617659	2	1	72	1	0	0	0	0	0	0	0	1	14902	1045	37	1		1	SNX32	11	65617659	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08	3233679	65617659	69388857	209	49086											
PITPNM1	9600	broad.mit.edu	37	chr11	67260437	67260437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagcttccgcacggcacGgcccacgatgtaggtctggc	13	14	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr11:67260437G>A	uc001olx.2	-	22	3628	c.3439C>T	c.(3439-3441)CGT>TGT	p.R1147C	PITPNM1_uc001olw.2_Missense_Mutation_p.R429C|PITPNM1_uc001oly.2_Missense_Mutation_p.R1147C|PITPNM1_uc001olz.2_Missense_Mutation_p.R1146C	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	1147					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						CGCACGGCACGGCCCACGATG	0.647													A	67260437	G	A	67260437	3	1	72	1	0	0	0	0	1	0	0	0	11950	1116	39	1	303	1	PITPNM1	11	67260437	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	1642778	67260437	67746079	210	49087											
UVRAG	7405	broad.mit.edu	37	chr11	75851978	75851978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccctccatgggagagaccGagagaaagataacatctcta	9	11	1	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr11:75851978G>A	uc001oxc.2	+	15	1862	c.1621G>A	c.(1621-1623)GAG>AAG	p.E541K	UVRAG_uc010rrw.1_Missense_Mutation_p.E440K|UVRAG_uc001oxd.2_Missense_Mutation_p.E169K|UVRAG_uc010rrx.1_Missense_Mutation_p.E169K|UVRAG_uc010rry.1_Missense_Mutation_p.E97K	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	541					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			skin(4)|lung(2)	6						GGGAGAGACCGAGAGAAAGAT	0.488													A	75851978	G	A	75851978	3	1	72	1	0	0	0	0	1	0	0	0	17105	1059	37	1	1679	1	UVRAG	11	75851978	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	8591541	75851978	59154538	211	49088											
DSCAML1	57453	broad.mit.edu	37	chr11	117332215	117332215	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgatagcctttgaggacGccattgagggtgctgcgcgg	15	11	0	2	rs145257382		TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr11:117332215G>A	uc001prh.1	-	18	3545	c.3543C>T	c.(3541-3543)GGC>GGT	p.G1181G		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1121	Fibronectin type-III 3.|Extracellular (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTTTGAGGACGCCATTGAGGG	0.632													A	117332215	G	A	117332215	2	1	72	1	0	0	0	0	0	0	0	1	4769	1074	38	1		1	DSCAML1	11	117332215	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08	41480237	117332215	17674301	212	49089											
C11orf63	79864	broad.mit.edu	37	chr11	122756770	122756770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggcaacggtatggagccCgacagcttagacgaggagga	17	9	0	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr11:122756770C>T	uc001pym.2	+	2	510	c.213C>T	c.(211-213)CCC>CCT	p.P71P	C11orf63_uc001pyl.1_Silent_p.P71P	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	71										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GTATGGAGCCCGACAGCTTAG	0.512													T	122756770	C	T	122756770	2	4	72	1	0	0	0	0	0	0	0	1	1654	639	23	1		1	C11orf63	11	122756770	Silent	SNP	C	TCGA-BR-8297-01A-12D-2340-08	5424555	122756770	12249746	213	49090											
PARP11	57097	broad.mit.edu	37	chr12	3923335	3923335	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggcacacctcttttttTcttgagctgagcctttttcc	7	12	2	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr12:3923335T>C	uc001qmk.1	-	6	602	c.547A>G	c.(547-549)AAA>GAA	p.K183E	PARP11_uc001qml.2_Missense_Mutation_p.K190E|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Missense_Mutation_p.K109E|PARP11_uc001qmn.2_Missense_Mutation_p.K109E	NM_020367	NP_065100	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	183	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			ovary(1)|central_nervous_system(1)	2			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			CCTCTTTTTTTCTTGAGCTGA	0.348													C	3923335	T	C	3923335	3	2	72	1	0	0	0	0	1	0	0	0	11456	1792	62	3	456	3	PARP11	12	3923335	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08		3923335	129928560	214	49091											
ANO2	57101	broad.mit.edu	37	chr12	5908717	5908717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatagaacactccatagcgCgcccattcttgatatagcag	7	11	1	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr12:5908717C>T	uc001qnm.2	-	10	1071	c.999G>A	c.(997-999)GCG>GCA	p.A333A		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	338	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						CTCCATAGCGCGCCCATTCTT	0.418													T	5908717	C	T	5908717	2	4	72	1	0	0	0	0	0	0	0	1	697	755	27	1		1	ANO2	12	5908717	Silent	SNP	C	TCGA-BR-8297-01A-12D-2340-08	1985382	5908717	127943178	215	49092											
KLRG1	10219	broad.mit.edu	37	chr12	9162086	9162086	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatggtcttcaagcctcaAgctgtgaagttcctttacac	7	10	3	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr12:9162086A>G	uc001qvh.2	+	5	534	c.523A>G	c.(523-525)AGC>GGC	p.S175G	KLRG1_uc001qvg.2_Missense_Mutation_p.S175G	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G,	175	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			central_nervous_system(1)	1						TCAAGCCTCAAGCTGTGAAGT	0.433													G	9162086	A	G	9162086	3	3	72	1	0	0	0	0	1	0	0	0	8421	72	3	3	541	3	KLRG1	12	9162086	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	3253369	9162086	124689809	216	49093											
A2M	2	broad.mit.edu	37	chr12	9231846	9231846	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttctttccttaccaggtgTtgccctggttcctgccatat	8	12	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr12:9231846T>G	uc001qvk.1	-	25	3226	c.3113A>C	c.(3112-3114)AAC>ACC	p.N1038T	A2M_uc001qvj.1_Missense_Mutation_p.N80T|A2M_uc009zgk.1_Missense_Mutation_p.N888T	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1038					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	TTACCAGGTGTTGCCCTGGTT	0.284													G	9231846	T	G	9231846	3	3	72	1	0	0	0	0	1	0	0	0	4	1725	60	5	1359	5	A2M	12	9231846	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	69760	9231846	124620049	217	49094											
CLEC12A	160364	broad.mit.edu	37	chr12	10133243	10133243	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggacagctgttatttcctaAgtgatgatgtccaaacatgg	10	7	0	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr12:10133243A>C	uc001qwr.3	+	4	630	c.442A>C	c.(442-444)AGT>CGT	p.S148R	CLEC12A_uc001qwq.2_Missense_Mutation_p.S158R|CLEC12A_uc001qws.3_Missense_Mutation_p.S115R|CLEC12A_uc001qwt.2_Missense_Mutation_p.S77R	NM_138337	NP_612210	Q5QGZ9	CL12A_HUMAN	myeloid inhibitory C-type lectin-like receptor	148	Extracellular (Potential).|C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			skin(1)	1						TTATTTCCTAAGTGATGATGT	0.413													C	10133243	A	C	10133243	3	2	72	1	0	0	0	0	1	0	0	0	3497	72	3	5	456	5	CLEC12A	12	10133243	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	901397	10133243	123718652	218	49095											
LRRK2	120892	broad.mit.edu	37	chr12	40657648	40657648	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcataagctaaatatggttaAaaaacagtgtttcaagaatg	7	4	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr12:40657648A>C	uc001rmg.3	+	14	1722	c.1601A>C	c.(1600-1602)AAA>ACA	p.K534T	LRRK2_uc001rmh.1_Missense_Mutation_p.K156T	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	534					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AATATGGTTAAAAAACAGTGT	0.294													C	40657648	A	C	40657648	3	2	72	1	0	0	0	0	1	0	0	0	9033	14	1	5	1655	5	LRRK2	12	40657648	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	30524405	40657648	93194247	219	49096											
SLC38A4	55089	broad.mit.edu	37	chr12	47186787	47186787	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccgatgtagctatctggaGcactttctccactgctgctc	8	14	2	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr12:47186787G>T	uc001rpi.2	-	3	467	c.68C>A	c.(67-69)GCT>GAT	p.A23D	SLC38A4_uc001rpj.2_Missense_Mutation_p.A23D|SLC38A4_uc009zkl.2_Missense_Mutation_p.A23D	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	23	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Lung SC(27;0.192)|Renal(347;0.236)					GCTATCTGGAGCACTTTCTCC	0.433													T	47186787	G	T	47186787	3	4	72	1	0	0	0	0	1	0	0	0	14606	971	34	5	1635	5	SLC38A4	12	47186787	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	6529139	47186787	86665108	220	49097											
KRT84	3890	broad.mit.edu	37	chr12	52774882	52774882	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgagccttggcgtgctcAatctctgccttaagcctctg	9	14	3	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr12:52774882A>C	uc001sah.1	-	6	1233	c.1185T>G	c.(1183-1185)ATT>ATG	p.I395M		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	395	Rod.|Coil 2.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGCGTGCTCAATCTCTGCCT	0.557													C	52774882	A	C	52774882	3	2	72	1	0	0	0	0	1	0	0	0	8498	126	5	5	633	5	KRT84	12	52774882	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	5588095	52774882	81077013	221	49098											
TENC1	23371	broad.mit.edu	37	chr12	53457541	53457541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctaggatctttggtttcGtggccaagaagccgggaagc	13	11	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr12:53457541G>A	uc001sbp.2	+	29	4240	c.4105G>A	c.(4105-4107)GTG>ATG	p.V1369M	TENC1_uc001sbl.2_Missense_Mutation_p.V1245M|TENC1_uc001sbn.2_Missense_Mutation_p.V1379M|TENC1_uc001sbq.2_Missense_Mutation_p.V767M|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Missense_Mutation_p.V862M|TENC1_uc001sbs.2_Missense_Mutation_p.V188M	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	1369					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2						CTTTGGTTTCGTGGCCAAGAA	0.537													A	53457541	G	A	53457541	3	1	72	1	0	0	0	0	1	0	0	0	15755	1145	40	1	4328	1	TENC1	12	53457541	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	682659	53457541	80394354	222	49099											
STAT6	6778	broad.mit.edu	37	chr12	57501478	57501478	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacagtgtctgaaagtagGgcactagccaagttgcagca	13	8	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr12:57501478G>A	uc009zpe.2	-	3	416	c.165C>T	c.(163-165)GCC>GCT	p.A55A	STAT6_uc009zpf.2_Silent_p.A55A|STAT6_uc001sna.2_Silent_p.A55A|STAT6_uc010srb.1_5'UTR|STAT6_uc010src.1_Intron|STAT6_uc010srd.1_Intron|STAT6_uc009zpg.2_Silent_p.A104A	NM_003153	NP_003144	P42226	STAT6_HUMAN	signal transducer and activator of transcription	55					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(2)|lung(1)|skin(1)	4						CTGAAAGTAGGGCACTAGCCA	0.612													A	57501478	G	A	57501478	2	1	72	1	0	0	0	0	0	0	0	1	15269	1219	43	4		4	STAT6	12	57501478	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08	4043937	57501478	76350417	223	49100											
LRP1	4035	broad.mit.edu	37	chr12	57554830	57554830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggacatcccggctgggCgcctctactgggtggatgcc	15	14	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr12:57554830C>T	uc001snd.2	+	13	2600	c.2134C>T	c.(2134-2136)CGC>TGC	p.R712C		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	712	LDL-receptor class B 7.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCGGCTGGGCGCCTCTACTG	0.597													T	57554830	C	T	57554830	3	4	72	1	0	0	0	0	1	0	0	0	8951	768	27	1	2184	1	LRP1	12	57554830	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	53352	57554830	76297065	224	49101											
ACSS3	79611	broad.mit.edu	37	chr12	81593201	81593201	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgtcttcagagtacctgtCttagaccattggtggcaaac	9	9	3	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr12:81593201C>T	uc001szl.1	+	9	1423	c.1332C>T	c.(1330-1332)GTC>GTT	p.V444V	ACSS3_uc001szm.1_Silent_p.V443V|ACSS3_uc001szn.1_Silent_p.V126V	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	444						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						GAGTACCTGTCTTAGACCATT	0.393													T	81593201	C	T	81593201	2	4	72	1	0	0	0	0	0	0	0	1	190	900	32	4		4	ACSS3	12	81593201	Silent	SNP	C	TCGA-BR-8297-01A-12D-2340-08	24038371	81593201	52258694	225	49102											
APAF1	317	broad.mit.edu	37	chr12	99077029	99077029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatcttctcttagccactGggtcaagtgactgcttcctc	7	13	4	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr12:99077029G>A	uc001tfz.2	+	15	2732	c.2155G>A	c.(2155-2157)GGG>AGG	p.G719R	APAF1_uc001tfy.2_Missense_Mutation_p.G708R|APAF1_uc001tga.2_Missense_Mutation_p.G708R|APAF1_uc001tgb.2_Missense_Mutation_p.G719R|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Missense_Mutation_p.G128R	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	719	WD 3.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	CTTAGCCACTGGGTCAAGTGA	0.393													A	99077029	G	A	99077029	3	1	72	1	0	0	0	0	1	0	0	0	755	1348	47	4	2209	4	APAF1	12	99077029	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	17483828	99077029	34774866	226	49103											
UNG	7374	broad.mit.edu	37	chr12	109541289	109541289	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcgtgcccatcaagccaactCtcataaggagcgaggctggg	12	12	2	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr12:109541289C>G	uc001tnz.1	+	6	744	c.674C>G	c.(673-675)TCT>TGT	p.S225C	UNG_uc001toa.1_Missense_Mutation_p.S216C	NM_080911	NP_550433	P13051	UNG_HUMAN	uracil-DNA glycosylase isoform UNG2	225					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			lung(1)|central_nervous_system(1)	2						CAAGCCAACTCTCATAAGGAG	0.498								BER_DNA_glycosylases	Immune_Deficiency_with_Hyper-IgM				G	109541289	C	G	109541289	3	3	72	1	0	0	0	0	1	0	0	0	16996	913	32	5	801	5	UNG	12	109541289	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	10464260	109541289	24310606	227	49104											
CCDC60	160777	broad.mit.edu	37	chr12	119943022	119943022	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggctcggatgagcccccaaGtgtgaacacccaggtgacca	12	13	0	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr12:119943022G>C	uc001txe.2	+	7	1262	c.797G>C	c.(796-798)AGT>ACT	p.S266T	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	266										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GAGCCCCCAAGTGTGAACACC	0.562													C	119943022	G	C	119943022	3	2	72	1	0	0	0	0	1	0	0	0	2831	1029	36	5	823	5	CCDC60	12	119943022	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	10401733	119943022	13908873	228	49105											
CLIP1	6249	broad.mit.edu	37	chr12	122845597	122845597	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagggctgcgcttcaggctgGcggacgtggtcgccatcact	15	12	2	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr12:122845597G>C	uc001ucg.1	-	4	1020	c.914C>G	c.(913-915)GCC>GGC	p.A305G	CLIP1_uc001uch.1_Missense_Mutation_p.A305G|CLIP1_uc001uci.1_Missense_Mutation_p.A305G|CLIP1_uc001ucj.1_Missense_Mutation_p.A6G|CLIP1_uc010tae.1_Missense_Mutation_p.A305G	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	305	Ser-rich.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTTCAGGCTGGCGGACGTGGT	0.602													C	122845597	G	C	122845597	3	2	72	1	0	0	0	0	1	0	0	0	3532	1203	42	5	3453	5	CLIP1	12	122845597	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	2902575	122845597	11006298	229	49106											
MMP17	4326	broad.mit.edu	37	chr12	132325159	132325159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccactggggcacgacaCggtgcgtgcactcatgtact	11	14	2	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr12:132325159C>T	uc001ujc.1	+	4	563	c.464C>T	c.(463-465)ACG>ATG	p.T155M	MMP17_uc001ujd.1_Missense_Mutation_p.T71M	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	155					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		GGGCACGACACGGTGCGTGCA	0.667													T	132325159	C	T	132325159	3	4	72	1	0	0	0	0	1	0	0	0	9656	536	19	1	478	1	MMP17	12	132325159	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	9479562	132325159	1526736	230	49107											
SACS	26278	broad.mit.edu	37	chr13	23907855	23907855	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttgaaatacatcaaaAgtgcctcaaaatcattttct	5	8	4	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr13:23907855A>C	uc001uon.2	-	10	10749	c.10160T>G	c.(10159-10161)CTT>CGT	p.L3387R	SACS_uc001uoo.2_Missense_Mutation_p.L3240R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3387					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATACATCAAAAGTGCCTCAAA	0.348													C	23907855	A	C	23907855	3	2	72	1	0	0	0	0	1	0	0	0	13804	72	3	5	3583	5	SACS	13	23907855	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08		23907855	91262023	231	49108											
RNF17	56163	broad.mit.edu	37	chr13	25444738	25444738	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccttgattctatagaaacTtctaaccagtctaaccagca	5	11	3	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr13:25444738T>G	uc001upr.2	+	32	4349	c.4308T>G	c.(4306-4308)ACT>ACG	p.T1436T	RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.T1432T|RNF17_uc001ups.2_Silent_p.T1375T|RNF17_uc010aac.2_Silent_p.T628T|RNF17_uc010aad.2_Silent_p.T446T	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1436					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTATAGAAACTTCTAACCAGT	0.408													G	25444738	T	G	25444738	2	3	72	1	0	0	0	0	0	0	0	1	13461	1596	56	5		5	RNF17	13	25444738	Silent	SNP	T	TCGA-BR-8297-01A-12D-2340-08	1536883	25444738	89725140	232	49109											
DCLK1	9201	broad.mit.edu	37	chr13	36686166	36686166	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccacttctgatgatggtgAccagcttgggccgaatgaaa	12	10	1	4			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr13:36686166A>G	uc001uvf.2	-	3	796	c.563T>C	c.(562-564)GTC>GCC	p.V188A		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	188	Doublecortin 2.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GATGATGGTGACCAGCTTGGG	0.532													G	36686166	A	G	36686166	3	3	72	1	0	0	0	0	1	0	0	0	4291	275	10	3	1690	3	DCLK1	13	36686166	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	11241428	36686166	78483712	233	49110											
SOHLH2	54937	broad.mit.edu	37	chr13	36748937	36748937	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaagaactgaagccgcAtcattctttctcccttttac	5	14	4	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr13:36748937A>T	uc001uvj.2	-	7	800	c.711T>A	c.(709-711)GAT>GAA	p.D237E	SOHLH2_uc010tei.1_Missense_Mutation_p.D314E	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	237	Helix-loop-helix motif.				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CTGAAGCCGCATCATTCTTTC	0.423													T	36748937	A	T	36748937	3	4	72	1	0	0	0	0	1	0	0	0	14924	214	8	5	586	5	SOHLH2	13	36748937	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	62771	36748937	78420941	234	49111											
PCDH9	5101	broad.mit.edu	37	chr13	67205373	67205373	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagagttgccatctgcttcAgtcctcttgtccggagaggc	11	12	4	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr13:67205373A>C	uc001vik.2	-	4	4001	c.3309T>G	c.(3307-3309)ACT>ACG	p.T1103T	PCDH9_uc010aei.2_RNA|PCDH9_uc001vil.2_Silent_p.T1069T|PCDH9_uc010thl.1_Silent_p.T1061T	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	1103	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CATCTGCTTCAGTCCTCTTGT	0.498													C	67205373	A	C	67205373	2	2	72	1	0	0	0	0	0	0	0	1	11518	175	7	5		5	PCDH9	13	67205373	Silent	SNP	A	TCGA-BR-8297-01A-12D-2340-08	30456436	67205373	47964505	235	49112											
CLN5	1203	broad.mit.edu	37	chr13	77574734	77574734	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgactgttccaaatttgtgtTaaggacctttaacaagttgg	9	7	0	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr13:77574734T>G	uc001vkc.2	+	4	882	c.854T>G	c.(853-855)TTA>TGA	p.L285*		NM_006493	NP_006484	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	236					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		AAATTTGTGTTAAGGACCTTT	0.378													G	77574734	T	G	77574734	4	3	72	1	0	0	0	0	0	1	0	0	3544	1764	61	5	868	5	CLN5	13	77574734	Nonsense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	10369361	77574734	37595144	236	49113											
DCT	1638	broad.mit.edu	37	chr13	95121040	95121041	+	Frame_Shift_Ins	INS	-	-	A													aataataatggagccacacaINSaaaaaatcataaacactgca							TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr13:95121039_95121040C>CA	uc010afh.3	-	1	982_983	c.555_556G>TG	c.(553-558)tttgtgfs	p.F185fs	DCT_uc001vlv.4_Frame_Shift_Ins_p.F185fs	NM_001129889	NP_001123361	P40126	TYRP2_HUMAN	Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA.	185					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TGGAGCCACACAAAAAAATCAT	0.45													A	95121041	-	A	95121040	7	5	72	1	0	1	1	0	0	0	0	0	4304	127	5	0	1139	0	DCT	13	95121040	Frame_Shift_Ins	INS	-	TCGA-BR-8297-01A-12D-2340-08	17546306	95121040	20048838	237	49114											
SLC10A2	6555	broad.mit.edu	37	chr13	103703770	103703770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaatgaggatggcgcccgCgatggacccaatctgaaaaa	11	11	1	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr13:103703770C>T	uc001vpy.3	-	4	1195	c.598G>A	c.(598-600)GCG>ACG	p.A200T		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid	200	Helical; (Potential).				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.A200A(1)		ovary(3)|skin(1)	4	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATGGCGCCCGCGATGGACCCA	0.438													T	103703770	C	T	103703770	3	4	72	1	0	0	0	0	1	0	0	0	14374	768	27	1	460	1	SLC10A2	13	103703770	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	8582730	103703770	11466108	238	49115											
NOVA1	4857	broad.mit.edu	37	chr14	26917993	26917993	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatgataagttcaacagcTtttcggttttgttcaggttc	10	6	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr14:26917993T>C	uc001wpy.2	-	5	1014	c.696A>G	c.(694-696)AAA>AAG	p.K232K	NOVA1_uc001wpz.2_Silent_p.K208K|NOVA1_uc001wqa.2_Silent_p.K110K	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	235	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5				GBM - Glioblastoma multiforme(265;0.0135)		GTTCAACAGCTTTTCGGTTTT	0.473													C	26917993	T	C	26917993	2	2	72	1	0	0	0	0	0	0	0	1	10554	1606	56	3		3	NOVA1	14	26917993	Silent	SNP	T	TCGA-BR-8297-01A-12D-2340-08		26917993	80431547	239	49116											
MDGA2	161357	broad.mit.edu	37	chr14	47426697	47426697	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtattcctgagagtcaaAttgacccgtccgtaataatt	8	8	1	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr14:47426697A>G	uc001wwj.3	-	9	1958	c.1762T>C	c.(1762-1764)TTT>CTT	p.F588L	MDGA2_uc001wwi.3_Missense_Mutation_p.F359L|MDGA2_uc010ani.2_Missense_Mutation_p.F148L	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	588	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						TGAGAGTCAAATTGACCCGTC	0.448													G	47426697	A	G	47426697	3	3	72	1	0	0	0	0	1	0	0	0	9407	101	4	3	1144	3	MDGA2	14	47426697	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	20508704	47426697	59922843	240	49117											
PYGL	5836	broad.mit.edu	37	chr14	51383825	51383825	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccttcccttcaaaaaacTtcaagccagagagatagaat	6	11	2	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr14:51383825T>G	uc001wyu.2	-	8	983	c.856_splice	c.e8-1	p.F286_splice	PYGL_uc010tqq.1_Splice_Site_p.F252_splice|PYGL_uc001wyv.2_Splice_Site|PYGL_uc010anz.1_Splice_Site_p.F89_splice	NM_002863	NP_002854	P06737	PYGL_HUMAN	liver glycogen phosphorylase isoform 1						glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			skin(1)	1	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TTCAAAAAACTTCAAGCCAGA	0.438													G	51383825	T	G	51383825	5	3	72	1	0	0	0	0	0	0	1	0	12861	1623	56	5	1741	5	PYGL	14	51383825	Splice_Site	SNP	T	TCGA-BR-8297-01A-12D-2340-08	3957128	51383825	55965715	241	49118											
KCNH5	27133	broad.mit.edu	37	chr14	63483661	63483661	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatctgggcatttcccagtaAgaaacttgattctgaagaag	9	7	2	4			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr14:63483661A>C	uc001xfx.2	-	2	136	c.85T>G	c.(85-87)TTA>GTA	p.L29V	KCNH5_uc001xfy.2_Missense_Mutation_p.L29V|KCNH5_uc001xfz.1_5'UTR|KCNH5_uc001xga.2_5'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	29	Cytoplasmic (Potential).|PAS.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTTCCCAGTAAGAAACTTGAT	0.353													C	63483661	A	C	63483661	3	2	72	1	0	0	0	0	1	0	0	0	8035	69	3	5	2955	5	KCNH5	14	63483661	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	12099836	63483661	43865879	242	49119											
DIO2	1734	broad.mit.edu	37	chr14	80669144	80669144	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcccagataagcaattTtctgtctctgcacaatgcac	5	13	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr14:80669144T>G	uc010tvq.1	-	4	1112	c.710A>C	c.(709-711)AAA>ACA	p.K237T	DIO2_uc010tvp.1_Missense_Mutation_p.K273T|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_3'UTR|DIO2_uc010tvr.1_Missense_Mutation_p.K237T|DIO2_uc010asy.2_3'UTR	NM_000793	NP_000784	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II isoform a	237					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0281)		ATAAGCAATTTTCTGTCTCTG	0.498													G	80669144	T	G	80669144	3	3	72	1	0	0	0	0	1	0	0	0	4525	1841	64	5	115	5	DIO2	14	80669144	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	17185483	80669144	26680396	243	49120											
EML5	161436	broad.mit.edu	37	chr14	89168805	89168805	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctacctggcctgttgccacGtagtctttcaaaggatgaat	9	11	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr14:89168805G>C	uc001xxg.2	-	15	2409	c.2223C>G	c.(2221-2223)TAC>TAG	p.Y741*	EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	741	WD 11.					cytoplasm|microtubule				ovary(3)	3						CTGTTGCCACGTAGTCTTTCA	0.368													C	89168805	G	C	89168805	4	2	72	1	0	0	0	0	0	1	0	0	5100	1140	40	5	3830	5	EML5	14	89168805	Nonsense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	8499661	89168805	18180735	244	49121											
ATXN3	4287	broad.mit.edu	37	chr14	92547369	92547369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtaagatttgtacctgatGtctgtgtcatatcttgagat	9	5	3	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr14:92547369G>A	uc001yac.3	-	9	881	c.812C>T	c.(811-813)ACA>ATA	p.T271I	ATXN3_uc010aug.2_Missense_Mutation_p.T256I|ATXN3_uc001yad.3_Missense_Mutation_p.T216I|ATXN3_uc010auh.2_Missense_Mutation_p.T205I|ATXN3_uc001yae.3_Missense_Mutation_p.T173I|ATXN3_uc010twl.1_RNA	NM_004993	NP_004984	P54252	ATX3_HUMAN	ataxin 3 reference isoform	271					cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		TGTACCTGATGTCTGTGTCAT	0.343													A	92547369	G	A	92547369	3	1	72	1	0	0	0	0	1	0	0	0	1213	1377	48	4	285	4	ATXN3	14	92547369	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	3378564	92547369	14802171	245	49122											
TTBK2	146057	broad.mit.edu	37	chr15	43045040	43045040	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctcctgggagagaggagaTctcaatacaatgctgccctc	10	11	2	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr15:43045040T>C	uc001zqo.2	-	14	2843	c.2404A>G	c.(2404-2406)ATC>GTC	p.I802V	TTBK2_uc010bcy.2_Missense_Mutation_p.I733V	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	802					cell death		ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AGAGAGGAGATCTCAATACAA	0.408													C	43045040	T	C	43045040	3	2	72	1	0	0	0	0	1	0	0	0	16674	1435	50	3	1338	3	TTBK2	15	43045040	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08		43045040	59486352	246	49123											
SLC12A1	6557	broad.mit.edu	37	chr15	48522588	48522588	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acttaataatttgtttccccAggagagtgattcgatgatgg	10	6	0	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr15:48522588A>C	uc001zwn.3	+	7	1081	c.865_splice	c.e7-2	p.E289_splice	SLC12A1_uc010uew.1_Splice_Site_p.E95_splice|SLC12A1_uc010bem.2_Splice_Site_p.E289_splice|SLC12A1_uc010uex.1_Splice_Site_p.E289_splice|SLC12A1_uc001zwq.3_Splice_Site_p.E60_splice|SLC12A1_uc001zwr.3_Splice_Site_p.E16_splice	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2						potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TTGTTTCCCCAGGAGAGTGAT	0.393													C	48522588	A	C	48522588	5	2	72	1	0	0	0	0	0	0	1	0	14382	202	7	5	985	5	SLC12A1	15	48522588	Splice_Site	SNP	A	TCGA-BR-8297-01A-12D-2340-08	5477548	48522588	54008804	247	49124											
ONECUT1	3175	broad.mit.edu	37	chr15	53049845	53049845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagactcctccttcttgcGttcatgaagaagttgctgac	8	12	2	4			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr15:53049845G>A	uc002aci.1	-	2	1433	c.1305C>T	c.(1303-1305)AAC>AAT	p.N435N		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	435	Homeobox.				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)		TCCTTCTTGCGTTCATGAAGA	0.473													A	53049845	G	A	53049845	2	1	72	1	0	0	0	0	0	0	0	1	10868	1136	40	1		1	ONECUT1	15	53049845	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08	4527257	53049845	49481547	248	49125											
HERC1	8925	broad.mit.edu	37	chr15	63950881	63950881	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctgctctcctaacgttattCtcccagaggagctcttttct	6	14	4	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr15:63950881C>T	uc002amp.2	-	48	9609	c.9461G>A	c.(9460-9462)AGA>AAA	p.R3154K		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3154					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TAACGTTATTCTCCCAGAGGA	0.458													T	63950881	C	T	63950881	3	4	72	1	0	0	0	0	1	0	0	0	7057	913	32	4	5248	4	HERC1	15	63950881	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	10901036	63950881	38580511	249	49126											
THSD4	79875	broad.mit.edu	37	chr15	71952875	71952875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctttttgcagagcattGgctgtgatgactacttaggc	11	8	1	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr15:71952875G>A	uc002atb.1	+	7	1238	c.1159G>A	c.(1159-1161)GGC>AGC	p.G387S	THSD4_uc002atd.1_Missense_Mutation_p.G61S|THSD4_uc010ukg.1_Missense_Mutation_p.G27S|THSD4_uc002ate.2_Missense_Mutation_p.G27S	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	387						proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						GCAGAGCATTGGCTGTGATGA	0.478													A	71952875	G	A	71952875	3	1	72	1	0	0	0	0	1	0	0	0	15875	1348	47	4	1185	4	THSD4	15	71952875	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	8001994	71952875	30578517	250	49127											
CLDN9	9080	broad.mit.edu	37	chr16	3063534	3063534	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggatgtcctgcgtggtgcaGagcacgggccagatgcagtg	17	9	0	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr16:3063534G>A	uc010uwo.1	+	1	1078	c.171G>A	c.(169-171)CAG>CAA	p.Q57Q		NM_020982	NP_066192	O95484	CLD9_HUMAN	claudin 9	57	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						GCGTGGTGCAGAGCACGGGCC	0.662													A	3063534	G	A	3063534	2	1	72	1	0	0	0	0	0	0	0	1	3492	933	33	4		4	CLDN9	16	3063534	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08		3063534	87291219	251	49128											
CLDN6	9074	broad.mit.edu	37	chr16	3065603	3065603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcccggatgatggcatgCgccgtccagcacacggggat	14	12	0	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr16:3065603C>T	uc002csu.3	-	2	480	c.420G>A	c.(418-420)GCG>GCA	p.A140A		NM_021195	NP_067018	P56747	CLD6_HUMAN	claudin 6	140	Extracellular (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						TGATGGCATGCGCCGTCCAGC	0.622													T	3065603	C	T	3065603	2	4	72	1	0	0	0	0	0	0	0	1	3489	755	27	1		1	CLDN6	16	3065603	Silent	SNP	C	TCGA-BR-8297-01A-12D-2340-08	2069	3065603	87289150	252	49129											
SLC5A11	115584	broad.mit.edu	37	chr16	24902195	24902195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctgaattctaggttttGccgcggttggtgggatggaa	14	7	2	1	rs61744722		TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr16:24902195G>A	uc002dmu.2	+	9	902	c.670G>A	c.(670-672)GCC>ACC	p.A224T	SLC5A11_uc002dms.2_Missense_Mutation_p.A160T|SLC5A11_uc010vcd.1_Missense_Mutation_p.A189T|SLC5A11_uc002dmt.2_Intron|SLC5A11_uc010vce.1_Missense_Mutation_p.A154T|SLC5A11_uc010bxt.2_Missense_Mutation_p.A160T	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	224	Helical; (Potential).				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0365)		TCTAGGTTTTGCCGCGGTTGG	0.542													A	24902195	G	A	24902195	3	1	72	1	0	0	0	0	1	0	0	0	14663	1319	46	2	700	2	SLC5A11	16	24902195	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	21836592	24902195	65452558	253	49130											
HS3ST4	9951	broad.mit.edu	37	chr16	26147507	26147507	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aattctacaaacccttcaacTtgatgttttaccaaatgact	3	10	2	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr16:26147507T>G	uc002dof.2	+	2	1701	c.1309T>G	c.(1309-1311)TTG>GTG	p.L437V		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	heparan sulfate D-glucosaminyl	437	Lumenal (Potential).				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.L437L(1)		large_intestine(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.0988)		ACCCTTCAACTTGATGTTTTA	0.473													G	26147507	T	G	26147507	3	3	72	1	0	0	0	0	1	0	0	0	7367	1606	56	5	1315	5	HS3ST4	16	26147507	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	1245312	26147507	64207246	254	49131											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67861893	67861893	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgagagccagagcctgcaagCtaggaacttgtgggcagcct	14	11	0	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr16:67861893C>A	uc002euj.2	+	16	2368	c.1974C>A	c.(1972-1974)AGC>AGA	p.S658R	TSNAXIP1_uc002euf.3_3'UTR|TSNAXIP1_uc010vka.1_Missense_Mutation_p.S712R|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.S643R|TSNAXIP1_uc002eug.3_Missense_Mutation_p.S366R|TSNAXIP1_uc002euh.3_Missense_Mutation_p.S366R|TSNAXIP1_uc002eui.3_Missense_Mutation_p.S366R|TSNAXIP1_uc002euk.2_Missense_Mutation_p.S391R	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	658					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		AGCCTGCAAGCTAGGAACTTG	0.532													A	67861893	C	A	67861893	3	1	72	1	0	0	0	0	1	0	0	0	16629	796	28	5	2028	5	TSNAXIP1	16	67861893	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	41714386	67861893	22492860	255	49132											
TAT	6898	broad.mit.edu	37	chr16	71606201	71606201	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attagatattccagttgtttCaggtcaatttcccaagattt	6	7	2	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr16:71606201C>A	uc002fap.2	-	6	693	c.594G>T	c.(592-594)CTG>CTT	p.L198L		NM_000353	NP_000344	P17735	ATTY_HUMAN	tyrosine aminotransferase	198					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(2)	2		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CCAGTTGTTTCAGGTCAATTT	0.408													A	71606201	C	A	71606201	2	1	72	1	0	0	0	0	0	0	0	1	15587	813	29	5		5	TAT	16	71606201	Silent	SNP	C	TCGA-BR-8297-01A-12D-2340-08	3744308	71606201	18748552	256	49133											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr17:7578406C>T	uc002gim.2	-	5	718	c.524G>A	c.(523-525)CGC>CAC	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	175	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7578406	C	T	7578406	3	4	72	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08		7578406	73616804	257	49134											
MYH10	4628	broad.mit.edu	37	chr17	8526315	8526315	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catatcctccaccttggaaaActtaggtgggttcatcttct	7	11	3	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr17:8526315A>C	uc002gll.2	-	2	346	c.250T>G	c.(250-252)TTT>GTT	p.F84V	MYH10_uc002glm.2_Missense_Mutation_p.F84V|MYH10_uc010cnx.2_Missense_Mutation_p.F84V	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	84	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						ACCTTGGAAAACTTAGGTGGG	0.403													C	8526315	A	C	8526315	3	2	72	1	0	0	0	0	1	0	0	0	10030	43	2	5	5840	5	MYH10	17	8526315	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	947909	8526315	72668895	258	49135											
TNFAIP1	7126	broad.mit.edu	37	chr17	26667474	26667474	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtattacctcatccagggGctggtgaatatgtgccagag	12	8	1	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr17:26667474G>A	uc002hax.1	+	3	364	c.345G>A	c.(343-345)GGG>GGA	p.G115G	TNFAIP1_uc002hay.2_Silent_p.G115G|TNFAIP1_uc010waf.1_Silent_p.G11G	NM_021137	NP_066960	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1	115					apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity				0	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TCATCCAGGGGCTGGTGAATA	0.547													A	26667474	G	A	26667474	2	1	72	1	0	0	0	0	0	0	0	1	16269	1190	42	2		2	TNFAIP1	17	26667474	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08	18141159	26667474	54527736	259	49136											
MED24	9862	broad.mit.edu	37	chr17	38191438	38191438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgagggttttctccaggCgctgaaggcacatggcaagc	14	10	1	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr17:38191438C>T	uc002htt.2	-	6	804	c.491G>A	c.(490-492)CGC>CAC	p.R164H	MED24_uc010wes.1_Missense_Mutation_p.R5H|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.R189H|MED24_uc002htu.2_Missense_Mutation_p.R151H|MED24_uc010cwn.2_Missense_Mutation_p.R151H|MED24_uc010weu.1_Missense_Mutation_p.R74H|MED24_uc010wev.1_Missense_Mutation_p.R114H|MED24_uc010wew.1_Missense_Mutation_p.R93H|MED24_uc010wex.1_Intron|MED24_uc010wez.1_5'Flank|MED24_uc010wfa.1_Missense_Mutation_p.R114H|MED24_uc010wfb.1_Missense_Mutation_p.R176H|MED24_uc010wfc.1_Missense_Mutation_p.R101H	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	164					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)					TTTCTCCAGGCGCTGAAGGCA	0.657											OREG0024387	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	38191438	C	T	38191438	3	4	72	1	0	0	0	0	1	0	0	0	9442	768	27	1	2562	1	MED24	17	38191438	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	11523964	38191438	43003772	260	49137											
KIF2B	84643	broad.mit.edu	37	chr17	51901901	51901901	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaaactcacactggtgCtccgggactcctttataggc	9	14	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr17:51901901C>A	uc002iua.2	+	1	1663	c.1507C>A	c.(1507-1509)CTC>ATC	p.L503I	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	503					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						CACACTGGTGCTCCGGGACTC	0.473													A	51901901	C	A	51901901	3	1	72	1	0	0	0	0	1	0	0	0	8298	797	28	5	1509	5	KIF2B	17	51901901	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	13710463	51901901	29293309	261	49138											
BCAS3	54828	broad.mit.edu	37	chr17	58885385	58885385	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcaaaaatgtgataacTttgctgaaaaaagacccctc	7	9	1	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr17:58885385T>G	uc002iyv.3	+	7	533	c.424T>G	c.(424-426)TTT>GTT	p.F142V	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Missense_Mutation_p.F142V|BCAS3_uc002iyw.3_Missense_Mutation_p.F138V	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	142						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			ATGTGATAACTTTGCTGAAAA	0.303													G	58885385	T	G	58885385	3	3	72	1	0	0	0	0	1	0	0	0	1352	1609	56	5	446	5	BCAS3	17	58885385	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	6983484	58885385	22309825	262	49139											
ABCA6	23460	broad.mit.edu	37	chr17	67087325	67087325	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tccaagcaaggtatatgaagGaaccaataccatggtggtaa	10	7	0	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr17:67087325G>C	uc002jhw.1	-	26	3662	c.3487C>G	c.(3487-3489)CCT>GCT	p.P1163A		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	1163	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					GTATATGAAGGAACCAATACC	0.323													C	67087325	G	C	67087325	3	2	72	1	0	0	0	0	1	0	0	0	36	1174	41	5	1422	5	ABCA6	17	67087325	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	8201940	67087325	14107885	263	49140											
SETBP1	26040	broad.mit.edu	37	chr18	42531308	42531308	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccatcaaaactatcaataAgatgaagacactcaagagga	7	8	3	4			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr18:42531308A>C	uc010dni.2	+	4	2299	c.2003A>C	c.(2002-2004)AAG>ACG	p.K668T		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	668						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACTATCAATAAGATGAAGACA	0.473									Schinzel-Giedion_syndrome				C	42531308	A	C	42531308	3	2	72	1	0	0	0	0	1	0	0	0	14129	72	3	5	2206	5	SETBP1	18	42531308	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08		42531308	35545940	264	49141											
SALL3	27164	broad.mit.edu	37	chr18	76752229	76752229	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaccaagctcccgcccgtgCtgatcgtgcacgaggacgcg	13	16	0	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr18:76752229C>A	uc002lmt.2	+	2	238	c.238C>A	c.(238-240)CTG>ATG	p.L80M	SALL3_uc010dra.2_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCGCCCGTGCTGATCGTGCA	0.716													A	76752229	C	A	76752229	3	1	72	1	0	0	0	0	1	0	0	0	13812	796	28	5	244	5	SALL3	18	76752229	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	34220921	76752229	1325019	265	49142											
GRIN3B	116444	broad.mit.edu	37	chr19	1005304	1005304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagtggcgtagcccctacGgcctcacgccacgtggccgc	13	17	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr19:1005304G>A	uc002lqo.1	+	3	1804	c.1804G>A	c.(1804-1806)GGC>AGC	p.G602S		NM_138690	NP_619635	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic,	602	Cytoplasmic (Potential).				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity				0		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TAGCCCCTACGGCCTCACGCC	0.642													A	1005304	G	A	1005304	3	1	72	1	0	0	0	0	1	0	0	0	6784	1116	39	1	1814	1	GRIN3B	19	1005304	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08		1005304	58123679	266	49143											
MUC16	94025	broad.mit.edu	37	chr19	9067492	9067492	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccatgagccagggagaatgTtgactccatctcaatccttg	9	12	1	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr19:9067492T>G	uc002mkp.2	-	3	20158	c.19954A>C	c.(19954-19956)ACA>CCA	p.T6652P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6654	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGGGAGAATGTTGACTCCATC	0.507													G	9067492	T	G	9067492	3	3	72	1	0	0	0	0	1	0	0	0	9973	1725	60	5	23897	5	MUC16	19	9067492	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	8062188	9067492	50061491	267	49144											
JUNB	3726	broad.mit.edu	37	chr19	12903585	12903585	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggtcatgacccacgtcagcAacggctgtcagctgctgctt	11	13	3	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr19:12903585A>T	uc002mvc.2	+	1	1276	c.1000A>T	c.(1000-1002)AAC>TAC	p.N334Y	JUNB_uc002mvb.2_RNA	NM_002229	NP_002220	P17275	JUNB_HUMAN	jun B proto-oncogene	334						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			lung(2)|central_nervous_system(1)	3						CCACGTCAGCAACGGCTGTCA	0.657													T	12903585	A	T	12903585	3	4	72	1	0	0	0	0	1	0	0	0	7970	130	5	5	1002	5	JUNB	19	12903585	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	3836093	12903585	46225398	268	49145											
FKBP8	23770	broad.mit.edu	37	chr19	18650400	18650400	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagagtgaacaccagctcCggctcctcctgcacccgtgt	9	18	0	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr19:18650400C>T	uc002njk.1	-	3	536	c.423G>A	c.(421-423)CCG>CCA	p.P141P	FKBP8_uc002nji.1_5'UTR|FKBP8_uc010xqi.1_Silent_p.P170P|FKBP8_uc002njj.1_Silent_p.P141P|FKBP8_uc002njl.1_Silent_p.P141P|FKBP8_uc002njm.1_Silent_p.P141P|FKBP8_uc010ebr.1_Intron|FKBP8_uc002njn.2_RNA	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	FK506-binding protein 8	141	PPIase FKBP-type.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			ovary(1)	1						ACACCAGCTCCGGCTCCTCCT	0.682													T	18650400	C	T	18650400	2	4	72	1	0	0	0	0	0	0	0	1	5914	639	23	1		1	FKBP8	19	18650400	Silent	SNP	C	TCGA-BR-8297-01A-12D-2340-08	5746815	18650400	40478583	269	49146											
ZNF257	113835	broad.mit.edu	37	chr19	22271961	22271961	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggcaaagcctttaaccAgtcttcacaccttactcaac	6	13	3	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr19:22271961A>T	uc010ecx.2	+	4	1578	c.1409A>T	c.(1408-1410)CAG>CTG	p.Q470L	ZNF257_uc010ecy.2_Missense_Mutation_p.Q438L	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	470	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCCTTTAACCAGTCTTCACAC	0.408													T	22271961	A	T	22271961	3	4	72	1	0	0	0	0	1	0	0	0	17797	188	7	5	1423	5	ZNF257	19	22271961	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	3621561	22271961	36857022	270	49147											
ZNF91	7644	broad.mit.edu	37	chr19	23544823	23544823	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcacatttgtagggttTctctccagtatgaattctct	6	9	4	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr19:23544823T>C	uc002nre.2	-	4	1071	c.958A>G	c.(958-960)AAA>GAA	p.K320E	ZNF91_uc010xrj.1_Missense_Mutation_p.K288E	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	320						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTGTAGGGTTTCTCTCCAGTA	0.388													C	23544823	T	C	23544823	3	2	72	1	0	0	0	0	1	0	0	0	18197	1792	62	3	2621	3	ZNF91	19	23544823	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	1272862	23544823	35584160	271	49148											
C19orf2	8725	broad.mit.edu	37	chr19	30503321	30503321	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaatttgatgataggcggggAgttttgaggagtatcagctg	16	3	1	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr19:30503321A>T	uc002nsr.2	+	10	1338	c.1308A>T	c.(1306-1308)GGA>GGT	p.G436G	C19orf2_uc002nsq.2_Silent_p.G418G|C19orf2_uc002nss.2_Silent_p.G396G|C19orf2_uc002nst.2_Silent_p.G360G	NM_003796	NP_003787	O94763	RMP_HUMAN	RPB5-mediating protein isoform a	436					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)|kidney(1)	2	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)		ATAGGCGGGGAGTTTTGAGGA	0.458													T	30503321	A	T	30503321	2	4	72	1	0	0	0	0	0	0	0	1	1911	291	11	5		5	C19orf2	19	30503321	Silent	SNP	A	TCGA-BR-8297-01A-12D-2340-08	6958498	30503321	28625662	272	49149											
APLP1	333	broad.mit.edu	37	chr19	36365445	36365445	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agactctggaggagcaggtgTctggtgagcgacagcgcctg	17	9	2	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr19:36365445T>C	uc002oce.2	+	9	1234	c.1096T>C	c.(1096-1098)TCT>CCT	p.S366P	APLP1_uc010xsz.1_Missense_Mutation_p.S327P|APLP1_uc002ocf.2_Missense_Mutation_p.S366P|APLP1_uc002ocg.2_Missense_Mutation_p.S269P|APLP1_uc010xta.1_Missense_Mutation_p.S360P	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	366	Extracellular (Potential).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			ovary(2)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGAGCAGGTGTCTGGTGAGCG	0.632													C	36365445	T	C	36365445	3	2	72	1	0	0	0	0	1	0	0	0	778	1667	58	3	1130	3	APLP1	19	36365445	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	5862124	36365445	22763538	273	49150											
SPRED3	399473	broad.mit.edu	37	chr19	38881012	38881012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggctgcctgtggggggcGggggcctcagccaggtgagc	21	11	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr19:38881012G>A	uc002oim.2	+	1	74	c.70G>A	c.(70-72)GGG>AGG	p.G24R	GGN_uc002oij.1_5'Flank|GGN_uc002oik.1_5'Flank|GGN_uc010efy.1_5'Flank|SPRED3_uc002oil.1_Missense_Mutation_p.G24R	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	24	WH1.				multicellular organismal development					central_nervous_system(2)|lung(1)|skin(1)	4	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGTGGGGGGCGGGGGCCTCAG	0.726													A	38881012	G	A	38881012	3	1	72	1	0	0	0	0	1	0	0	0	15093	1116	39	1	72	1	SPRED3	19	38881012	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	2515567	38881012	20247971	274	49151											
TBC1D17	79735	broad.mit.edu	37	chr19	50390983	50390983	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgcaccctcaggtgctgtgGacagggctccctggccccaa	12	17	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr19:50390983G>A	uc002pqo.2	+	15	1703	c.1551G>A	c.(1549-1551)TGG>TGA	p.W517*	TBC1D17_uc010ybg.1_Nonsense_Mutation_p.W484*|TBC1D17_uc002pqp.2_Nonsense_Mutation_p.W168*|TBC1D17_uc002pqr.2_Nonsense_Mutation_p.W168*|TBC1D17_uc002pqs.2_RNA|IL4I1_uc002pqv.1_3'UTR|IL4I1_uc010eno.1_3'UTR|IL4I1_uc002pqw.1_3'UTR	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	517	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		AGGTGCTGTGGACAGGGCTCC	0.667													A	50390983	G	A	50390983	4	1	72	1	0	0	0	0	0	1	0	0	15603	1183	41	4	1609	4	TBC1D17	19	50390983	Nonsense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	11509971	50390983	8738000	275	49152											
LENG9	94059	broad.mit.edu	37	chr19	54973371	54973371	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaccccacttcctggcTgagggtgaactccagcttgg	12	14	0	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr19:54973371T>A	uc010yez.1	-	1	1524	c.1405A>T	c.(1405-1407)AGC>TGC	p.S469C		NM_198988	NP_945339	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	469					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		ACTTCCTGGCTGAGGGTGAAC	0.652													A	54973371	T	A	54973371	3	1	72	1	0	0	0	0	1	0	0	0	8725	1580	55	5	104	5	LENG9	19	54973371	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	4582388	54973371	4155612	276	49153											
ZNF471	57573	broad.mit.edu	37	chr19	57036546	57036546	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactggaggagttatcatacTggagagaagccttttaattg	11	6	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr19:57036546T>C	uc002qnh.2	+	5	1243	c.1110T>C	c.(1108-1110)ACT>ACC	p.T370T		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GTTATCATACTGGAGAGAAGC	0.398													C	57036546	T	C	57036546	2	2	72	1	0	0	0	0	0	0	0	1	17927	1567	55	3		3	ZNF471	19	57036546	Silent	SNP	T	TCGA-BR-8297-01A-12D-2340-08	2063175	57036546	2092437	277	49154											
USP29	57663	broad.mit.edu	37	chr19	57641380	57641380	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttgtggtcatgctgttcTcaaggtagaacctaataatt	9	7	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr19:57641380T>C	uc002qny.2	+	4	1693	c.1337T>C	c.(1336-1338)CTC>CCC	p.L446P		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	446					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATGCTGTTCTCAAGGTAGAA	0.383													C	57641380	T	C	57641380	3	2	72	1	0	0	0	0	1	0	0	0	17056	1551	54	3	1339	3	USP29	19	57641380	Missense_Mutation	SNP	T	TCGA-BR-8297-01A-12D-2340-08	604834	57641380	1487603	278	49155											
ZNF135	7694	broad.mit.edu	37	chr19	58578734	58578734	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccagagaactcacacaggTgagaagccctatgaatgcag	10	11	1	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr19:58578734T>C	uc010yhq.1	+	5	1014	c.918T>C	c.(916-918)GGT>GGC	p.G306G	ZNF135_uc002qre.2_Silent_p.G294G|ZNF135_uc002qrd.1_Silent_p.G252G|ZNF135_uc002qrf.2_Silent_p.G252G|ZNF135_uc002qrg.2_Silent_p.G264G|ZNF135_uc010yhr.1_Silent_p.G115G	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	306					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CTCACACAGGTGAGAAGCCCT	0.512													C	58578734	T	C	58578734	2	2	72	1	0	0	0	0	0	0	0	1	17722	1683	59	3		3	ZNF135	19	58578734	Silent	SNP	T	TCGA-BR-8297-01A-12D-2340-08	937354	58578734	550249	279	49156											
PLCB1	23236	broad.mit.edu	37	chr20	8626804	8626804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgctggcccaaaacatgtCcagggatgcatttctggaaa	10	11	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr20:8626804C>T	uc002wnb.2	+	5	443	c.440C>T	c.(439-441)TCC>TTC	p.S147F	PLCB1_uc010zrb.1_Missense_Mutation_p.S46F|PLCB1_uc010gbv.1_Missense_Mutation_p.S147F|PLCB1_uc002wmz.1_Missense_Mutation_p.S147F|PLCB1_uc002wna.2_Missense_Mutation_p.S147F|PLCB1_uc002wnc.1_Missense_Mutation_p.S46F	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	147					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						CAAAACATGTCCAGGGATGCA	0.408													T	8626804	C	T	8626804	3	4	72	1	0	0	0	0	1	0	0	0	12027	855	30	4	458	4	PLCB1	20	8626804	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08		8626804	54398716	280	49157											
C20orf26	26074	broad.mit.edu	37	chr20	20051611	20051611	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caagcaggatgactgggtgtCagtgttccgggagctcgaca	15	9	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr20:20051611C>T	uc002wru.2	+	3	333	c.257C>T	c.(256-258)TCA>TTA	p.S86L	C20orf26_uc010gcw.1_Missense_Mutation_p.S40L|C20orf26_uc010zse.1_Missense_Mutation_p.S86L|C20orf26_uc010zsf.1_Missense_Mutation_p.S86L	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	86										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		GACTGGGTGTCAGTGTTCCGG	0.517													T	20051611	C	T	20051611	3	4	72	1	0	0	0	0	1	0	0	0	2106	838	29	4	263	4	C20orf26	20	20051611	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	11424807	20051611	42973909	281	49158											
SSTR4	6754	broad.mit.edu	37	chr20	23016284	23016284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctatccagtgcatctacgCgctggtgtgcctggtggggc	15	12	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr20:23016284C>T	uc002wsr.2	+	1	228	c.164C>T	c.(163-165)GCG>GTG	p.A55V		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	55	Helical; Name=1; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGCATCTACGCGCTGGTGTGC	0.522													T	23016284	C	T	23016284	3	4	72	1	0	0	0	0	1	0	0	0	15199	768	27	1	166	1	SSTR4	20	23016284	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	2964673	23016284	40009236	282	49159											
CD93	22918	broad.mit.edu	37	chr20	23065702	23065702	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccccctctccaggaccGcccggctcatagccaaccca	8	21	2	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr20:23065702G>A	uc002wsv.2	-	1	1276	c.1128C>T	c.(1126-1128)GGC>GGT	p.G376G		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	376	Extracellular (Potential).|EGF-like 3; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTCCAGGACCGCCCGGCTCAT	0.632													A	23065702	G	A	23065702	2	1	72	1	0	0	0	0	0	0	0	1	3047	1074	38	1		1	CD93	20	23065702	Silent	SNP	G	TCGA-BR-8297-01A-12D-2340-08	49418	23065702	39959818	283	49160											
ACSS1	84532	broad.mit.edu	37	chr20	24993551	24993551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgccctcagttcggtaaGccccgtctccagtgaagtaa	10	14	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr20:24993551G>A	uc002wub.2	-	11	2482	c.1604C>T	c.(1603-1605)GCT>GTT	p.A535V	ACSS1_uc002wuc.2_Missense_Mutation_p.A533V|ACSS1_uc010gdc.2_Missense_Mutation_p.A330V|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Missense_Mutation_p.A452V	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	535					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGTTCGGTAAGCCCCGTCTCC	0.577													A	24993551	G	A	24993551	3	1	72	1	0	0	0	0	1	0	0	0	188	971	34	2	481	2	ACSS1	20	24993551	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	1927849	24993551	38031969	284	49161											
C20orf4	25980	broad.mit.edu	37	chr20	34832708	34832708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcctgaacctcctgtgcCggtcagaagcagccatgatg	12	13	1	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr20:34832708C>T	uc002xfc.1	+	3	940	c.847C>T	c.(847-849)CGG>TGG	p.R283W	C20orf4_uc002xfd.1_Missense_Mutation_p.R283W|C20orf4_uc002xfe.1_Missense_Mutation_p.R283W	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	hypothetical protein LOC25980	283											0	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)				CCTCCTGTGCCGGTCAGAAGC	0.532													T	34832708	C	T	34832708	3	4	72	1	0	0	0	0	1	0	0	0	2111	643	23	1	853	1	C20orf4	20	34832708	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	9839157	34832708	28192812	285	49162											
ZFP64	55734	broad.mit.edu	37	chr20	50701472	50701472	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaagtcacacttgaagggaCggtccttacagtggactctg	12	9	2	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr20:50701472C>A	uc002xwk.2	-	9	1911	c.1562G>T	c.(1561-1563)CGT>CTT	p.R521L	ZFP64_uc002xwj.2_Missense_Mutation_p.R302L	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CTTGAAGGGACGGTCCTTACA	0.642													A	50701472	C	A	50701472	3	1	72	1	0	0	0	0	1	0	0	0	17649	536	19	5	379	5	ZFP64	20	50701472	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	15868764	50701472	12324048	286	49163											
RAE1	8480	broad.mit.edu	37	chr20	55931555	55931555	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	accattccaaaagcccagcaGatgcacactgggcctgtgct	9	14	0	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr20:55931555G>C	uc002xyg.2	+	4	590	c.249G>C	c.(247-249)CAG>CAC	p.Q83H	RAE1_uc010gis.1_Missense_Mutation_p.Q36H|RAE1_uc010git.1_Missense_Mutation_p.Q83H|RAE1_uc002xyh.2_Missense_Mutation_p.Q83H|RAE1_uc002xyi.2_Missense_Mutation_p.Q83H	NM_003610	NP_003601	P78406	RAE1L_HUMAN	RAE1 (RNA export 1, S.pombe) homolog	83					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding				0	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			AAGCCCAGCAGATGCACACTG	0.418													C	55931555	G	C	55931555	3	2	72	1	0	0	0	0	1	0	0	0	12998	933	33	5	259	5	RAE1	20	55931555	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	5230083	55931555	7093965	287	49164											
TAF4	6874	broad.mit.edu	37	chr20	60584158	60584158	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgctgtctctgtagactGcttgccagatgaagccagtt	11	10	1	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr20:60584158G>A	uc002ybs.2	-	5	1834	c.1834C>T	c.(1834-1836)CAG>TAG	p.Q612*		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	612	TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCTGTAGACTGCTTGCCAGAT	0.378													A	60584158	G	A	60584158	4	1	72	1	0	0	0	0	0	1	0	0	15523	1328	46	2	1467	2	TAF4	20	60584158	Nonsense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	4652603	60584158	2441362	288	49165											
TMPRSS15	5651	broad.mit.edu	37	chr21	19704431	19704431	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attagggtagctgtttggaaAgttcgtagaactgaatgttg	13	3	0	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr21:19704431A>G	uc002ykw.2	-	14	1655	c.1624T>C	c.(1624-1626)TTT>CTT	p.F542L		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	542	Extracellular (Potential).|CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						CTGTTTGGAAAGTTCGTAGAA	0.423													G	19704431	A	G	19704431	3	3	72	1	0	0	0	0	1	0	0	0	16243	72	3	3	1483	3	TMPRSS15	21	19704431	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08		19704431	28425464	289	49166											
SLC5A4	6527	broad.mit.edu	37	chr22	32625330	32625330	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagcatcaggcctcgcagTcctggagccgggaaagggta	15	10	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr22:32625330T>C	uc003ami.2	-	11	1133	c.1131A>G	c.(1129-1131)GGA>GGG	p.G377G		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	377	Extracellular (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						GGCCTCGCAGTCCTGGAGCCG	0.532													C	32625330	T	C	32625330	2	2	72	1	0	0	0	0	0	0	0	1	14667	1681	58	3		3	SLC5A4	22	32625330	Silent	SNP	T	TCGA-BR-8297-01A-12D-2340-08		32625330	18679236	290	49167											
CBX6	23466	broad.mit.edu	37	chr22	39263079	39263079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggacatacggtggcagCggcggatgtccttcttgagc	17	10	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr22:39263079C>T	uc003awl.2	-	5	437	c.374G>A	c.(373-375)CGC>CAC	p.R125H		NM_014292	NP_055107	O95503	CBX6_HUMAN	chromobox homolog 6	125					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex					0	Melanoma(58;0.04)					ACGGTGGCAGCGGCGGATGTC	0.697													T	39263079	C	T	39263079	3	4	72	1	0	0	0	0	1	0	0	0	2722	768	27	1	868	1	CBX6	22	39263079	Missense_Mutation	SNP	C	TCGA-BR-8297-01A-12D-2340-08	6637749	39263079	12041487	291	49168											
CELSR1	9620	broad.mit.edu	37	chr22	46805053	46805053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgaagagctgggggtgaGgcatggctgcggacacaggc	19	9	0	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chr22:46805053G>A	uc003bhw.1	-	9	5066	c.5066C>T	c.(5065-5067)CCT>CTT	p.P1689L	CELSR1_uc011arc.1_Missense_Mutation_p.P2L	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1689	Extracellular (Potential).|Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTGGGGGTGAGGCATGGCTGC	0.657													A	46805053	G	A	46805053	3	1	72	1	0	0	0	0	1	0	0	0	3221	1000	35	4	4086	4	CELSR1	22	46805053	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	7541974	46805053	4499513	292	49169											
PQBP1	10084	broad.mit.edu	37	chrX	48759272	48759272	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctccccacatgaccccaActccgtggttaccaaatcgg	7	17	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chrX:48759272A>G	uc004dle.2	+	4	434	c.245A>G	c.(244-246)AAC>AGC	p.N82S	PQBP1_uc004dlf.2_Missense_Mutation_p.N82S|PQBP1_uc004dlg.2_Missense_Mutation_p.N82S|PQBP1_uc004dld.2_RNA|PQBP1_uc004dlh.2_Missense_Mutation_p.N82S|PQBP1_uc004dli.2_Missense_Mutation_p.N82S|PQBP1_uc004dlj.1_Missense_Mutation_p.N82S|PQBP1_uc004dln.2_Missense_Mutation_p.N82S|PQBP1_uc010nih.2_RNA|PQBP1_uc010nii.2_Missense_Mutation_p.N40S|PQBP1_uc004dlk.2_Missense_Mutation_p.N82S|PQBP1_uc004dll.2_Missense_Mutation_p.N44S|PQBP1_uc004dlm.2_Missense_Mutation_p.N40S|PQBP1_uc010nij.2_Intron	NM_001032382	NP_001027554	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity			large_intestine(1)	1						CATGACCCCAACTCCGTGGTT	0.542													G	48759272	A	G	48759272	3	3	72	1	0	0	0	0	1	0	0	0	12417	43	2	3	255	3	PQBP1	23	48759272	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08		48759272	106511288	293	49170											
GSPT2	23708	broad.mit.edu	37	chrX	51487269	51487269	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaggaaatgatggaggaaAaagaggaaataagaaaatcc	12	4	0	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chrX:51487269A>G	uc004dpl.2	+	1	773	c.547A>G	c.(547-549)AAA>GAA	p.K183E		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	peptide chain release factor 3	183					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)	1	Ovarian(276;0.236)					GATGGAGGAAAAAGAGGAAAT	0.478													G	51487269	A	G	51487269	3	3	72	1	0	0	0	0	1	0	0	0	6827	15	1	3	549	3	GSPT2	23	51487269	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	2727997	51487269	103783291	294	49171											
MED12	9968	broad.mit.edu	37	chrX	70360572	70360572	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggcaggcgtccgttcAacagccatcctacctgagca	10	15	1	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chrX:70360572A>T	uc004dyy.2	+	42	6331	c.6132A>T	c.(6130-6132)TCA>TCT	p.S2044S	MED12_uc004dyz.2_Silent_p.S2043S|MED12_uc004dza.2_Silent_p.S1894S|MED12_uc010nla.2_Silent_p.S673S	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	2044	Gln-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					GCGTCCGTTCAACAGCCATCC	0.313													T	70360572	A	T	70360572	2	4	72	1	0	0	0	0	0	0	0	1	9428	117	5	5		5	MED12	23	70360572	Silent	SNP	A	TCGA-BR-8297-01A-12D-2340-08	18873303	70360572	84909988	295	49172											
MAGEE2	139599	broad.mit.edu	37	chrX	75004270	75004270	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggcttatcccacatatcaActtttagcagcaagtcccaa	6	12	1	0			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chrX:75004270A>G	uc004ecj.1	-	1	802	c.617T>C	c.(616-618)GTT>GCT	p.V206A		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	206	MAGE 1.									ovary(1)|skin(1)	2						CCACATATCAACTTTTAGCAG	0.498													G	75004270	A	G	75004270	3	3	72	1	0	0	0	0	1	0	0	0	9186	43	2	3	958	3	MAGEE2	23	75004270	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	4643698	75004270	80266290	296	49173											
KLHL4	56062	broad.mit.edu	37	chrX	86877393	86877393	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaactggggatgctgctttcTtacatcagactgccattact	9	10	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chrX:86877393T>C	uc004efb.2	+	5	1289	c.1107T>C	c.(1105-1107)TCT>TCC	p.S369S	KLHL4_uc004efa.2_Silent_p.S369S	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	369						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						TGCTGCTTTCTTACATCAGAC	0.413													C	86877393	T	C	86877393	2	2	72	1	0	0	0	0	0	0	0	1	8391	1596	56	3		3	KLHL4	23	86877393	Silent	SNP	T	TCGA-BR-8297-01A-12D-2340-08	11873123	86877393	68393167	297	49174											
GPRASP2	114928	broad.mit.edu	37	chrX	101970603	101970603	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcagactaatcccaggtccaGgcccagatccaagcaagaag	9	13	1	3			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chrX:101970603G>C	uc004ejk.2	+	4	2140	c.806G>C	c.(805-807)AGG>ACG	p.R269T	GPRASP2_uc004ejl.2_Missense_Mutation_p.R269T|GPRASP2_uc004ejm.2_Missense_Mutation_p.R269T|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	269						cytoplasm	protein binding			ovary(1)	1						CCCAGGTCCAGGCCCAGATCC	0.507													C	101970603	G	C	101970603	3	2	72	1	0	0	0	0	1	0	0	0	6723	1000	35	5	808	5	GPRASP2	23	101970603	Missense_Mutation	SNP	G	TCGA-BR-8297-01A-12D-2340-08	15093210	101970603	53299957	298	49175											
SERPINA7	6906	broad.mit.edu	37	chrX	105281009	105281009	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagtggattgtagcatgaAgcccaagtaccaagagaacc	10	10	0	2			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chrX:105281009A>C	uc004eme.1	-	1	57	c.41T>G	c.(40-42)CTT>CGT	p.L14R	SERPINA7_uc010npd.2_Missense_Mutation_p.L14R|SERPINA7_uc010npe.1_Missense_Mutation_p.L14R	NM_000354	NP_000345	P05543	THBG_HUMAN	serine (or cysteine) proteinase inhibitor, clade	14					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity				0					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGTAGCATGAAGCCCAAGTAC	0.438													C	105281009	A	C	105281009	3	2	72	1	0	0	0	0	1	0	0	0	14094	72	3	5	1222	5	SERPINA7	23	105281009	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	3310406	105281009	49989551	299	49176											
RGAG1	57529	broad.mit.edu	37	chrX	109696914	109696914	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgccaattagagcctctgcTtctggagcaaggtccacatc	10	13	2	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chrX:109696914T>G	uc004eor.1	+	3	3315	c.3069T>G	c.(3067-3069)GCT>GCG	p.A1023A	RGAG1_uc011msr.1_Silent_p.A1023A	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1023										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						GAGCCTCTGCTTCTGGAGCAA	0.498													G	109696914	T	G	109696914	2	3	72	1	0	0	0	0	0	0	0	1	13274	1596	56	5		5	RGAG1	23	109696914	Silent	SNP	T	TCGA-BR-8297-01A-12D-2340-08	4415905	109696914	45573646	300	49177											
ACTRT1	139741	broad.mit.edu	37	chrX	127185305	127185305	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagtacaatgtctgcataaAgtttattctggatgtcagtg	10	5	3	1			TCGA-BR-8297-01A-12D-2340-08	TCGA-BR-8297-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	722132ab-435b-4269-ac2b-ff9c6ca573ca	d576b3d8-afd5-4475-ac9b-b23933dc84bc	g.chrX:127185305A>C	uc004eum.2	-	1	1078	c.881T>G	c.(880-882)CTT>CGT	p.L294R		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	294						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)|skin(1)	5						GTCTGCATAAAGTTTATTCTG	0.522													C	127185305	A	C	127185305	3	2	72	1	0	0	0	0	1	0	0	0	218	72	3	5	253	5	ACTRT1	23	127185305	Missense_Mutation	SNP	A	TCGA-BR-8297-01A-12D-2340-08	17488391	127185305	28085255	301	49178											
CPSF3L	54973	broad.mit.edu	37	chr1	1248900	1248900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccctcaccatgttcttttCgtttccggcccatttccgga	7	15	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:1248900C>T	uc001aee.1	-	10	1088	c.1030G>A	c.(1030-1032)GAA>AAA	p.E344K	CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.E350K|CPSF3L_uc009vjz.1_Missense_Mutation_p.E322K|CPSF3L_uc010nyj.1_Missense_Mutation_p.E315K|CPSF3L_uc001aeg.1_Missense_Mutation_p.E220K|CPSF3L_uc001aeh.1_Missense_Mutation_p.E243K|CPSF3L_uc001aei.1_Missense_Mutation_p.E246K|CPSF3L_uc001aej.1_Missense_Mutation_p.E171K|CPSF3L_uc001aek.1_Missense_Mutation_p.E86K	NM_017871	NP_060341	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor	344						Golgi apparatus|nucleus	hydrolase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		ATGTTCTTTTCGTTTCCGGCC	0.592													T	1248900	C	T	1248900	3	4	73	1	0	0	0	0	1	0	0	0	3827	893	31	1	804	1	CPSF3L	1	1248900	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08		1248900	248001721	1	49179											
AURKAIP1	54998	broad.mit.edu	37	chr1	1309707	1309707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatctcctccagctccagCtgggcccccttgcgagggag	12	16	1	0	rs148649999	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:1309707C>T	uc001afb.1	-	2	281	c.171G>A	c.(169-171)CAG>CAA	p.Q57Q	AURKAIP1_uc001afc.2_Silent_p.Q57Q|AURKAIP1_uc001afd.2_Silent_p.Q57Q|AURKAIP1_uc009vkb.1_Silent_p.Q57Q	NM_017900	NP_060370	Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	57					negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCAGCTCCAGCTGGGCCCCCT	0.697													T	1309707	C	T	1309707	2	4	73	1	0	0	0	0	0	0	0	1	1222	796	28	2		2	AURKAIP1	1	1309707	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	60807	1309707	247940914	2	49180											
PRDM16	63976	broad.mit.edu	37	chr1	3328286	3328286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgcctcccacgttccccGcactcacccccggcttcccg	8	24	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:3328286G>A	uc001akf.2	+	9	1605	c.1525G>A	c.(1525-1527)GCA>ACA	p.A509T	PRDM16_uc001akc.2_Missense_Mutation_p.A509T|PRDM16_uc001akd.2_Missense_Mutation_p.A509T|PRDM16_uc001ake.2_Missense_Mutation_p.A509T|PRDM16_uc009vlh.2_Missense_Mutation_p.A210T	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	509	Pro-rich.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CACGTTCCCCGCACTCACCCC	0.677			T	EVI1	MDS|AML								A	3328286	G	A	3328286	3	1	73	1	0	0	0	0	1	0	0	0	12457	1087	38	1	1559	1	PRDM16	1	3328286	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2018579	3328286	245922335	3	49181											
ARHGEF16	27237	broad.mit.edu	37	chr1	3386085	3386085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagtccaaggagctgcGggcgaccgtgacccagatgg	15	13	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:3386085G>A	uc001akg.3	+	6	1198	c.950G>A	c.(949-951)CGG>CAG	p.R317Q	ARHGEF16_uc001aki.2_Missense_Mutation_p.R29Q|ARHGEF16_uc001akj.2_Missense_Mutation_p.R29Q|ARHGEF16_uc009vli.1_5'Flank|ARHGEF16_uc010nzh.1_5'Flank	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	317	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AAGGAGCTGCGGGCGACCGTG	0.612													A	3386085	G	A	3386085	3	1	73	1	0	0	0	0	1	0	0	0	899	1116	39	1	968	1	ARHGEF16	1	3386085	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	57799	3386085	245864536	4	49182											
CCDC27	148870	broad.mit.edu	37	chr1	3669276	3669276	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagcatggccagccgggaCgcccggtgcccagaatggaa	15	13	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:3669276C>T	uc001akv.2	+	1	312	c.231C>T	c.(229-231)GAC>GAT	p.D77D		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	77										skin(1)	1	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CCAGCCGGGACGCCCGGTGCC	0.622													T	3669276	C	T	3669276	2	4	73	1	0	0	0	0	0	0	0	1	2801	535	19	1		1	CCDC27	1	3669276	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	283191	3669276	245581345	5	49183											
CAMTA1	23261	broad.mit.edu	37	chr1	7797322	7797322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtcttctagatgtgggCgtgtgccctagggcacttgg	14	11	2	1	rs149702154		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:7797322C>T	uc001aoi.2	+	15	3557	c.3350C>T	c.(3349-3351)GCG>GTG	p.A1117V	CAMTA1_uc010nzv.1_Missense_Mutation_p.A204V|CAMTA1_uc001aok.3_Missense_Mutation_p.A160V|CAMTA1_uc001aoj.2_Missense_Mutation_p.A73V	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1117	ANK 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TAGATGTGGGCGTGTGCCCTA	0.547													T	7797322	C	T	7797322	3	4	73	1	0	0	0	0	1	0	0	0	2613	768	27	1	3408	1	CAMTA1	1	7797322	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	4128046	7797322	241453299	6	49184											
UBE4B	10277	broad.mit.edu	37	chr1	10190583	10190583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttgcggttgtggttgcCgaaatccttaagtcctggct	11	9	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:10190583C>T	uc001aqs.3	+	13	2434	c.1721C>T	c.(1720-1722)CCG>CTG	p.P574L	UBE4B_uc001aqr.3_Missense_Mutation_p.P445L|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.P29L|UBE4B_uc001aqt.1_5'Flank	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	574					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTGTGGTTGCCGAAATCCTTA	0.488													T	10190583	C	T	10190583	3	4	73	1	0	0	0	0	1	0	0	0	16880	652	23	1	1771	1	UBE4B	1	10190583	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2393261	10190583	239060038	7	49185											
CASZ1	54897	broad.mit.edu	37	chr1	10725240	10725240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttggagggctcctccgcGtggtcttcctcatcgctgca	11	15	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:10725240G>A	uc001aro.2	-	5	725	c.405C>T	c.(403-405)CAC>CAT	p.H135H	CASZ1_uc001arp.1_Silent_p.H135H|CASZ1_uc009vmx.2_Silent_p.H159H	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GCTCCTCCGCGTGGTCTTCCT	0.692													A	10725240	G	A	10725240	2	1	73	1	0	0	0	0	0	0	0	1	2685	1136	40	1		1	CASZ1	1	10725240	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	534657	10725240	238525381	8	49186											
MIIP	60672	broad.mit.edu	37	chr1	12091856	12091856	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cggccccacgtcccacggcaGaagccctgaggactgactcc	11	18	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:12091856G>A	uc001ato.1	+	10	1338	c.1158G>A	c.(1156-1158)CAG>CAA	p.Q386Q		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	invasion inhibitory protein 45	386										ovary(1)	1						TCCCACGGCAGAAGCCCTGAG	0.677													A	12091856	G	A	12091856	2	1	73	1	0	0	0	0	0	0	0	1	9585	933	33	4		4	MIIP	1	12091856	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1366616	12091856	237158765	9	49187											
SPEN	23013	broad.mit.edu	37	chr1	16263675	16263675	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggccctcctcctgaaggTgagcccctgcagcctcctca	10	18	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:16263675T>C	uc001axk.1	+	12	10248	c.10044T>C	c.(10042-10044)GGT>GGC	p.G3348G	SPEN_uc010obp.1_Silent_p.G3307G	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3348	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTCCTGAAGGTGAGCCCCTGC	0.642													C	16263675	T	C	16263675	2	2	73	1	0	0	0	0	0	0	0	1	15037	1683	59	3		3	SPEN	1	16263675	Silent	SNP	T	TCGA-BR-8360-01A-11D-2340-08	4171819	16263675	232986946	10	49188											
CLCNKA	1187	broad.mit.edu	37	chr1	16358730	16358730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtaggcatcgtgcagaggGcccagctggtgcaggccctc	16	12	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:16358730G>A	uc001axu.2	+	17	1869	c.1789G>A	c.(1789-1791)GCC>ACC	p.A597T	CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.A597T|CLCNKA_uc010obw.1_Missense_Mutation_p.A554T|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010oby.1_3'UTR	NM_004070	NP_004061	P51800	CLCKA_HUMAN	chloride channel Ka isoform 1	597	CBS 1.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CGTGCAGAGGGCCCAGCTGGT	0.642													A	16358730	G	A	16358730	3	1	73	1	0	0	0	0	1	0	0	0	3469	1203	42	2	1851	2	CLCNKA	1	16358730	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	95055	16358730	232891891	11	49189											
CROCC	9696	broad.mit.edu	37	chr1	17272894	17272894	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttggatctgaaccgccttgtCgcccaggtacgctgtgcacc	11	14	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:17272894C>T	uc001azt.2	+	16	2346	c.2277C>T	c.(2275-2277)GTC>GTT	p.V759V	CROCC_uc009voz.1_Silent_p.V522V|CROCC_uc001azu.2_Silent_p.V62V	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	759	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACCGCCTTGTCGCCCAGGTAC	0.597													T	17272894	C	T	17272894	2	4	73	1	0	0	0	0	0	0	0	1	3893	871	31	1		1	CROCC	1	17272894	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	914164	17272894	231977727	12	49190											
PADI3	51702	broad.mit.edu	37	chr1	17597402	17597402	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcccctatcttcactgAcactgtggtgttccgagtgg	11	12	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:17597402A>G	uc001bai.2	+	8	900	c.860A>G	c.(859-861)GAC>GGC	p.D287G		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	287					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ATCTTCACTGACACTGTGGTG	0.453													G	17597402	A	G	17597402	3	3	73	1	0	0	0	0	1	0	0	0	11379	275	10	3	890	3	PADI3	1	17597402	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	324508	17597402	231653219	13	49191											
UBR4	23352	broad.mit.edu	37	chr1	19441312	19441312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctggcctcaccttcttcCggtcttcttcattctcaatg	6	14	7	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:19441312C>T	uc001bbi.2	-	75	11199	c.11195G>A	c.(11194-11196)CGG>CAG	p.R3732Q	UBR4_uc001bbj.1_Missense_Mutation_p.R147Q	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3732					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CACCTTCTTCCGGTCTTCTTC	0.527													T	19441312	C	T	19441312	3	4	73	1	0	0	0	0	1	0	0	0	16901	652	23	1	4484	1	UBR4	1	19441312	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1843910	19441312	229809309	14	49192											
ALPL	249	broad.mit.edu	37	chr1	21903914	21903914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagtctgctgtgcccctgCgccacgagacccacggcggg	14	17	1	1	rs138690664		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:21903914C>T	uc001bet.2	+	12	1605	c.1348C>T	c.(1348-1350)CGC>TGC	p.R450C	ALPL_uc010odn.1_Missense_Mutation_p.R398C|ALPL_uc010odo.1_Missense_Mutation_p.R395C|ALPL_uc010odp.1_Missense_Mutation_p.R373C|ALPL_uc001beu.3_Missense_Mutation_p.R450C	NM_000478	NP_000469	P05186	PPBT_HUMAN	tissue-nonspecific alkaline phosphatase	450			R -> H (in HOPS).|R -> C (in HOPS; severe; 4% of activity).		response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	TGTGCCCCTGCGCCACGAGAC	0.687													T	21903914	C	T	21903914	3	4	73	1	0	0	0	0	1	0	0	0	547	768	27	1	1390	1	ALPL	1	21903914	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2462602	21903914	227346707	15	49193											
ARID1A	8289	broad.mit.edu	37	chr1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-													tgctgcactggcggattggtGggggggacaccactgagcat							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACA	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27105931	G	-	27105931	7	5	73	1	0	1	0	1	0	0	0	0	913	1348	47	0	5620	0	ARID1A	1	27105931	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	5202017	27105931	222144690	16	49194											
PHACTR4	65979	broad.mit.edu	37	chr1	28800273	28800273	+	Frame_Shift_Del	DEL	C	C	-													gatctcacctcgctctccgtCccccccactgcctactcata							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:28800272_28800272TC>T	uc001bpy.3	+	5	1295	c.1060_1060TC>T	c.(1060-1062)tccfs	p.S354fs	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Frame_Shift_Del_p.S344fs|PHACTR4_uc001bpx.3_Frame_Shift_Del_p.S328fs	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACT	0.512													-	28800273	C	-	28800273	7	5	73	1	0	1	0	1	0	0	0	0	11812	855	30	0	1103	0	PHACTR4	1	28800273	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	1694342	28800273	220450348	17	49195											
SFRS4	6429	broad.mit.edu	37	chr1	29475301	29475301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcactcttgctgcggctgCgactgcgactgcggctctcc	11	16	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:29475301C>T	uc001bro.2	-	6	1479	c.1106G>A	c.(1105-1107)CGC>CAC	p.R369H	SFRS4_uc010ofy.1_3'UTR	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	splicing factor, arginine/serine-rich 4	369	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding				0		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)		gctgcggctgcgactgcgact	0.09													T	29475301	C	T	29475301	3	4	73	1	0	0	0	0	1	0	0	0	14179	768	27	1	382	1	SFRS4	1	29475301	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	675028	29475301	219775320	18	49196											
EIF2C1	26523	broad.mit.edu	37	chr1	36354045	36354046	+	Frame_Shift_Ins	INS	-	-	C													agctgcgggcgcttacctgcINScccccctgcagcaggtgttc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:36354044_36354045G>GC	uc001bzl.3	+	1	255_256	c.42_43G>GC	c.(40-45)ctgcccfs	p.L14fs	EIF2C1_uc001bzk.3_5'UTR	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	14					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCGCTTACCTGCCCCCCCTGCA	0.569													C	36354046	-	C	36354045	7	5	73	1	0	1	1	0	0	0	0	0	5005	739	26	0	49	0	EIF2C1	1	36354045	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	6878744	36354045	212896576	19	49197											
THRAP3	9967	broad.mit.edu	37	chr1	36762332	36762333	+	Frame_Shift_Ins	INS	-	-	A													tcaagggaaaggtcagctgaINSaaaaacagagaaaactcata							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:36762331_36762332G>GA	uc001cae.4	+	8	2487_2488	c.2263_2264G>GA	c.(2263-2265)gaafs	p.E755fs	THRAP3_uc001caf.4_Frame_Shift_Ins_p.E755fs	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	755					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGGTCAGCTGAAAAAACAGAG	0.431			T	USP6	aneurysmal bone cysts								A	36762333	-	A	36762332	7	5	73	1	0	1	1	0	0	0	0	0	15871	246	9	0	2290	0	THRAP3	1	36762332	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	408287	36762332	212488289	20	49198											
EPHA10	284656	broad.mit.edu	37	chr1	38227513	38227513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaggcggggacgcccacgGcccaggtcggcctcagtttc	14	16	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:38227513G>A	uc009vvi.2	-	3	500	c.414C>T	c.(412-414)GGC>GGT	p.G138G	EPHA10_uc001cbw.3_Silent_p.G138G	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	138	Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GACGCCCACGGCCCAGGTCGG	0.657													A	38227513	G	A	38227513	2	1	73	1	0	0	0	0	0	0	0	1	5166	1190	42	2		2	EPHA10	1	38227513	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1465181	38227513	211023108	21	49199											
FHL3	2275	broad.mit.edu	37	chr1	38465063	38465064	+	Frame_Shift_Del	DEL	CA	CA	-													cagggactcgttgcattttgCacagtcaaatgactcgctca							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:38465062_38465063GCA>G	uc001cck.3	-	1	201_202	c.22_23TGC>C	c.(22-24)gcafs	p.A8fs	FHL3_uc001ccm.3_Intron|FHL3_uc009vvl.2_Frame_Shift_Del_p.A8fs	NM_004468	NP_004459	Q13643	FHL3_HUMAN	Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.	8					muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTTGCATTTTGCACAGTCAAAT	0.55													-	38465064	CA	-	38465063	7	5	73	1	0	1	0	1	0	0	0	0	5880	710	25	0	840	0	FHL3	1	38465063	Frame_Shift_Del	DEL	CA	TCGA-BR-8360-01A-11D-2340-08	237550	38465063	210785558	22	49200											
ZNF642	339559	broad.mit.edu	37	chr1	40945114	40945114	+	Frame_Shift_Del	DEL	G	G	-													catccaaagaaggccgtggaGggggcgcccctgtgggagga							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:40945113_40945113AG>A	uc010ojk.2	+	1	374	c.80_80AG>A	c.(79-81)gagfs	p.E27fs	ZNF642_uc001cfo.3_Frame_Shift_Del_p.E27fs|ZNF642_uc009vwb.3_Frame_Shift_Del_p.E27fs	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	Homo sapiens zinc finger protein 642 (ZNF642), mRNA.	27	SCAN box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			AAGGCCGTGGAGGGGGCGCCC	0.547													-	40945114	G	-	40945114	7	5	73	1	0	1	0	1	0	0	0	0	18055	991	35	0	83	0	ZNF642	1	40945114	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	2480051	40945114	208305507	23	49201											
ZNF684	127396	broad.mit.edu	37	chr1	41012975	41012975	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatacaggagagaaaccttAcagttgtattgaatgtggca	10	6	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:41012975A>G	uc001cft.1	+	5	1231	c.980A>G	c.(979-981)TAC>TGC	p.Y327C		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	327	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			GAGAAACCTTACAGTTGTATT	0.423													G	41012975	A	G	41012975	3	3	73	1	0	0	0	0	1	0	0	0	18088	391	14	3	994	3	ZNF684	1	41012975	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	67861	41012975	208237646	24	49202											
HIVEP3	59269	broad.mit.edu	37	chr1	42049392	42049392	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggccagcttctgcttaatCgtgtgggtgtcttcaggttt	13	8	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:42049392C>T	uc001cgz.3	-	4	2290	c.1077G>A	c.(1075-1077)ACG>ACA	p.T359T	HIVEP3_uc001cha.3_Silent_p.T359T|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	359	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCTGCTTAATCGTGTGGGTGT	0.567													T	42049392	C	T	42049392	2	4	73	1	0	0	0	0	0	0	0	1	7188	871	31	1		1	HIVEP3	1	42049392	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1036417	42049392	207201229	25	49203											
CDC20	991	broad.mit.edu	37	chr1	43825904	43825904	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttctgggaatgtactggcCgtggcactggacaacagtgt	14	8	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:43825904C>T	uc001cix.2	+	6	698	c.597C>T	c.(595-597)GCC>GCT	p.A199A	CDC20_uc001ciy.2_Silent_p.A199A	NM_001255	NP_001246	Q12834	CDC20_HUMAN	cell division cycle 20	199	WD 1.				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGTACTGGCCGTGGCACTGG	0.522													T	43825904	C	T	43825904	2	4	73	1	0	0	0	0	0	0	0	1	3059	639	23	1		1	CDC20	1	43825904	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1776512	43825904	205424717	26	49204											
ZSWIM5	57643	broad.mit.edu	37	chr1	45501386	45501386	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacgtaaggctaatttataGgacaggtctggatcatgagg	13	6	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:45501386G>T	uc001cnd.2	-	10	2493	c.2265C>A	c.(2263-2265)TCC>TCA	p.S755S		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	755							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					CTAATTTATAGGACAGGTCTG	0.488													T	45501386	G	T	45501386	2	4	73	1	0	0	0	0	0	0	0	1	18241	987	35	5		5	ZSWIM5	1	45501386	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1675482	45501386	203749235	27	49205											
LRRC41	10489	broad.mit.edu	37	chr1	46745250	46745250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcagaaattgggctgggCgcttctcaaacagacggcag	14	10	1	2	rs28363251		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:46745250C>T	uc001cpn.2	-	8	2101	c.2057G>A	c.(2056-2058)CGC>CAC	p.R686H	LRRC41_uc010omb.1_Missense_Mutation_p.R686H	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	686										ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTGGGCTGGGCGCTTCTCAAA	0.557													T	46745250	C	T	46745250	3	4	73	1	0	0	0	0	1	0	0	0	8999	768	27	1	393	1	LRRC41	1	46745250	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1243864	46745250	202505371	28	49206											
RAB3B	5865	broad.mit.edu	37	chr1	52403066	52403066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgtgatggtccggtaccGctcctgcccagctgtgtcct	12	13	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:52403066G>A	uc001cth.2	-	3	372	c.247C>T	c.(247-249)CGG>TGG	p.R83W		NM_002867	NP_002858	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	83					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			ovary(1)	1						GTCCGGTACCGCTCCTGCCCA	0.468													A	52403066	G	A	52403066	3	1	73	1	0	0	0	0	1	0	0	0	12932	1086	38	1	424	1	RAB3B	1	52403066	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	5657816	52403066	196847555	29	49207											
LDLRAD1	388633	broad.mit.edu	37	chr1	54476062	54476062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgggccacaaggaagtggGggaggctctggggcacatct	18	8	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:54476062G>A	uc001cwm.1	-	5	380	c.362C>T	c.(361-363)CCC>CTC	p.P121L	LDLRAD1_uc010onz.1_Missense_Mutation_p.P68S|LDLRAD1_uc010ooa.1_Missense_Mutation_p.P78L|LDLRAD1_uc009vzn.1_RNA	NM_001010978	NP_001010978	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain	121	LDL-receptor class A 2; atypical.					integral to membrane	receptor activity			skin(2)|large_intestine(1)	3						AAGGAAGTGGGGGAGGCTCTG	0.562													A	54476062	G	A	54476062	3	1	73	1	0	0	0	0	1	0	0	0	8705	1232	43	4	263	4	LDLRAD1	1	54476062	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2072996	54476062	194774559	30	49208											
DHCR24	1718	broad.mit.edu	37	chr1	55337163	55337163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagatagcctccaggccccGcactggctcgaaacgcagct	10	16	0	1	rs150166147		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:55337163G>A	uc001cyc.1	-	5	865	c.736C>T	c.(736-738)CGG>TGG	p.R246W	DHCR24_uc010ooj.1_Missense_Mutation_p.R108W|DHCR24_uc010ook.1_Missense_Mutation_p.R205W	NM_014762	NP_055577	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase precursor	246					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			pancreas(1)	1						TCCAGGCCCCGCACTGGCTCG	0.612													A	55337163	G	A	55337163	3	1	73	1	0	0	0	0	1	0	0	0	4476	1086	38	1	834	1	DHCR24	1	55337163	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	861101	55337163	193913458	31	49209											
PTGER3	5733	broad.mit.edu	37	chr1	71512689	71512689	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcccacgcccagcaccggcAgcagggcgaaggcgagcacg	16	16	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:71512689A>T	uc001dfg.1	-	1	803	c.572T>A	c.(571-573)CTG>CAG	p.L191Q	PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.L191Q|PTGER3_uc001dfl.1_Missense_Mutation_p.L191Q|PTGER3_uc009wbm.1_Missense_Mutation_p.L191Q|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.L191Q|PTGER3_uc009wbn.1_Missense_Mutation_p.L191Q|PTGER3_uc009wbo.2_Missense_Mutation_p.L191Q|PTGER3_uc001dfo.2_Missense_Mutation_p.L191Q|PTGER3_uc001dfp.1_Missense_Mutation_p.L191Q|PTGER3_uc001dfq.2_Missense_Mutation_p.L191Q|uc001dfr.2_RNA	NM_198714	NP_942007	P43115	PE2R3_HUMAN	prostaglandin E receptor 3, subtype EP3 isoform	191	Helical; Name=4; (Potential).				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			pancreas(1)|lung(1)|skin(1)	3					Bimatoprost(DB00905)	CAGCACCGGCAGCAGGGCGAA	0.692													T	71512689	A	T	71512689	3	4	73	1	0	0	0	0	1	0	0	0	12744	188	7	5	919	5	PTGER3	1	71512689	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	16175526	71512689	177737932	32	49210											
PTGER3	5733	broad.mit.edu	37	chr1	71512701	71512701	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaccggcagcagggcgaagGcgagcacggccagccacacg	16	15	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:71512701G>T	uc001dfg.1	-	1	791	c.560C>A	c.(559-561)GCC>GAC	p.A187D	PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.A187D|PTGER3_uc001dfl.1_Missense_Mutation_p.A187D|PTGER3_uc009wbm.1_Missense_Mutation_p.A187D|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.A187D|PTGER3_uc009wbn.1_Missense_Mutation_p.A187D|PTGER3_uc009wbo.2_Missense_Mutation_p.A187D|PTGER3_uc001dfo.2_Missense_Mutation_p.A187D|PTGER3_uc001dfp.1_Missense_Mutation_p.A187D|PTGER3_uc001dfq.2_Missense_Mutation_p.A187D|uc001dfr.2_RNA	NM_198714	NP_942007	P43115	PE2R3_HUMAN	prostaglandin E receptor 3, subtype EP3 isoform	187	Helical; Name=4; (Potential).				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			pancreas(1)|lung(1)|skin(1)	3					Bimatoprost(DB00905)	CAGGGCGAAGGCGAGCACGGC	0.716													T	71512701	G	T	71512701	3	4	73	1	0	0	0	0	1	0	0	0	12744	1203	42	5	931	5	PTGER3	1	71512701	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	12	71512701	177737920	33	49211											
WDR63	126820	broad.mit.edu	37	chr1	85592282	85592282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggagttttctacatcgGccgagaagatggatacattg	12	9	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:85592282G>A	uc001dkt.2	+	20	2392	c.2201G>A	c.(2200-2202)GGC>GAC	p.G734D	WDR63_uc009wcl.2_Missense_Mutation_p.G695D	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	734	WD 4.									upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTCTACATCGGCCGAGAAGAT	0.473													A	85592282	G	A	85592282	3	1	73	1	0	0	0	0	1	0	0	0	17311	1203	42	2	2275	2	WDR63	1	85592282	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	14079581	85592282	163658339	34	49212											
GBP1	2633	broad.mit.edu	37	chr1	89528741	89528741	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cactcaccctttttctttccAgccagcttgttcatcaggta	5	14	4	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:89528741A>T	uc001dmx.2	-	2	397	c.177T>A	c.(175-177)GCT>GCA	p.A59A		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	59					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TTTTCTTTCCAGCCAGCTTGT	0.498													T	89528741	A	T	89528741	2	4	73	1	0	0	0	0	0	0	0	1	6273	175	7	5		5	GBP1	1	89528741	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	3936459	89528741	159721880	35	49213											
NTNG1	22854	broad.mit.edu	37	chr1	107691423	107691423	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaactcgatcctccggatAttacctgtggagaccctcct	8	13	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:107691423A>G	uc001dvh.3	+	2	926	c.208A>G	c.(208-210)ATT>GTT	p.I70V	NTNG1_uc001dvf.3_Missense_Mutation_p.I70V|NTNG1_uc010out.1_Missense_Mutation_p.I70V|NTNG1_uc001dvc.3_Missense_Mutation_p.I70V|NTNG1_uc001dvd.1_Missense_Mutation_p.I70V	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	70	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TCCTCCGGATATTACCTGTGG	0.433													G	107691423	A	G	107691423	3	3	73	1	0	0	0	0	1	0	0	0	10704	449	16	3	210	3	NTNG1	1	107691423	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	18162682	107691423	141559198	36	49214											
SARS	6301	broad.mit.edu	37	chr1	109772189	109772189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttctgtacccatcagtaacGatgaggtaggtggctgtgcc	12	10	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:109772189G>A	uc001dwu.1	+	4	517	c.442G>A	c.(442-444)GAT>AAT	p.D148N	SARS_uc001dwt.1_Missense_Mutation_p.D148N|SARS_uc001dwv.1_Missense_Mutation_p.D148N|SARS_uc001dww.1_Missense_Mutation_p.D81N|SARS_uc001dwx.1_Missense_Mutation_p.D148N|SARS_uc009wfa.1_Missense_Mutation_p.D148N|SARS_uc001dwy.1_5'UTR|SARS_uc001dwz.1_5'UTR	NM_006513	NP_006504	P49591	SYSC_HUMAN	seryl-tRNA synthetase	148					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CATCAGTAACGATGAGGTAGG	0.582													A	109772189	G	A	109772189	3	1	73	1	0	0	0	0	1	0	0	0	13844	1058	37	1	456	1	SARS	1	109772189	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2080766	109772189	139478432	37	49215											
SYPL2	284612	broad.mit.edu	37	chr1	110020512	110020512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctggggcaagggcctgaccGatgtcaagggggccacacga	16	12	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:110020512G>A	uc001dxp.2	+	5	895	c.529G>A	c.(529-531)GAT>AAT	p.D177N	SYPL2_uc001dxo.2_Missense_Mutation_p.D177N|SYPL2_uc010ovk.1_Intron|SYPL2_uc001dxq.2_Missense_Mutation_p.D85N	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN	mitsugumin 29	177	Vesicular (Potential).|MARVEL.					integral to membrane|synaptic vesicle	transporter activity			ovary(1)	1		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGGCCTGACCGATGTCAAGGG	0.607													A	110020512	G	A	110020512	3	1	73	1	0	0	0	0	1	0	0	0	15460	1058	37	1	547	1	SYPL2	1	110020512	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	248323	110020512	139230109	38	49216											
ATXN7L2	127002	broad.mit.edu	37	chr1	110029769	110029769	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttccacgaaaacctcctccAgggagaagggccaggggtcc	13	13	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:110029769A>G	uc001dxr.2	+	4	454	c.439A>G	c.(439-441)AGG>GGG	p.R147G	ATXN7L2_uc001dxs.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	147										ovary(2)	2		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AACCTCCTCCAGGGAGAAGGG	0.612													G	110029769	A	G	110029769	3	3	73	1	0	0	0	0	1	0	0	0	1217	179	7	3	453	3	ATXN7L2	1	110029769	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	9257	110029769	139220852	39	49217											
OLFML3	56944	broad.mit.edu	37	chr1	114522210	114522210	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccctccaaggacagcagcaCcaccttgtggagtacatgga	10	14	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:114522210C>G	uc001eer.1	+	1	181	c.72C>G	c.(70-72)CAC>CAG	p.H24Q	OLFML3_uc001ees.1_5'UTR|OLFML3_uc001eet.1_5'UTR	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3 precursor	24					multicellular organismal development	extracellular region					0	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACAGCAGCACCACCTTGTGG	0.572											OREG0013687	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	114522210	C	G	114522210	3	3	73	1	0	0	0	0	1	0	0	0	10859	506	18	5	74	5	OLFML3	1	114522210	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	4492441	114522210	134728411	40	49218											
BCAS2	10286	broad.mit.edu	37	chr1	115123933	115123933	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacttacttcaaaggcagaaTaatccggggctgtcaggtag	11	8	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:115123933T>C	uc001efa.2	-	2	226	c.173A>G	c.(172-174)TAT>TGT	p.Y58C	DENND2C_uc001eez.2_RNA	NM_005872	NP_005863	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	58					mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding			large_intestine(1)	1	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAGGCAGAATAATCCGGGGC	0.453													C	115123933	T	C	115123933	3	2	73	1	0	0	0	0	1	0	0	0	1351	1406	49	3	528	3	BCAS2	1	115123933	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	601723	115123933	134126688	41	49219											
HAO2	51179	broad.mit.edu	37	chr1	119925576	119925576	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacctgagagatgtgtctgAggtggacaccagaaccacaa	12	9	1	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:119925576A>C	uc001ehq.1	+	4	522	c.170A>C	c.(169-171)GAG>GCG	p.E57A	HAO2_uc001ehr.1_Missense_Mutation_p.E57A	NM_001005783	NP_001005783	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2	57	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			ovary(2)|skin(2)	4	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GATGTGTCTGAGGTGGACACC	0.547													C	119925576	A	C	119925576	3	2	73	1	0	0	0	0	1	0	0	0	6952	304	11	5	176	5	HAO2	1	119925576	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	4801643	119925576	129325045	42	49220											
PDE4DIP	9659	broad.mit.edu	37	chr1	144912234	144912234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccctcctaaatattggcGcagggcctgtaattctgaat	8	11	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:144912234G>A	uc001elw.3	-	15	2332	c.2041C>T	c.(2041-2043)CGC>TGC	p.R681C	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R747C|PDE4DIP_uc001emc.1_Missense_Mutation_p.R681C|PDE4DIP_uc001emd.1_Missense_Mutation_p.R681C|PDE4DIP_uc001emb.1_Missense_Mutation_p.R844C|PDE4DIP_uc001eme.1_Missense_Mutation_p.R210C|PDE4DIP_uc001emf.1_Missense_Mutation_p.R466C	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	681	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAATATTGGCGCAGGGCCTGT	0.443			T	PDGFRB	MPD								A	144912234	G	A	144912234	3	1	73	1	0	0	0	0	1	0	0	0	11643	1087	38	1	5129	1	PDE4DIP	1	144912234	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	24986658	144912234	104338387	43	49221											
PIAS3	10401	broad.mit.edu	37	chr1	145578250	145578250	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccccggaagaccctgggGccctctgatctctcccttct	8	17	3	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:145578250G>A	uc001eoc.1	+	2	304	c.213G>A	c.(211-213)GGG>GGA	p.G71G	NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_Silent_p.G62G|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	71					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGACCCTGGGGCCCTCTGATC	0.607													A	145578250	G	A	145578250	2	1	73	1	0	0	0	0	0	0	0	1	11877	1190	42	2		2	PIAS3	1	145578250	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	666016	145578250	103672371	44	49222											
CGN	57530	broad.mit.edu	37	chr1	151498178	151498178	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttgtgcgagggctgcagAgggagctggaggagacttca	17	9	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:151498178A>C	uc009wmw.2	+	9	1819	c.1675A>C	c.(1675-1677)AGG>CGG	p.R559R		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	553	Glu-rich.|Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGGCTGCAGAGGGAGCTGGA	0.562													C	151498178	A	C	151498178	2	2	73	1	0	0	0	0	0	0	0	1	3303	295	11	5		5	CGN	1	151498178	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	5919928	151498178	97752443	45	49223											
HRNR	388697	broad.mit.edu	37	chr1	152191477	152191477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcggccgcggcccgaagcGtgatgggaggcagactcatg	17	11	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:152191477G>A	uc001ezt.1	-	3	2704	c.2628C>T	c.(2626-2628)CAC>CAT	p.H876H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	876	10.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCGAAGCGTGATGGGAGG	0.612													A	152191477	G	A	152191477	2	1	73	1	0	0	0	0	0	0	0	1	7359	1136	40	1		1	HRNR	1	152191477	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	693299	152191477	97059144	46	49224											
FLG	2312	broad.mit.edu	37	chr1	152276878	152276878	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtgcctggagccatctcctGattgttcgtcattacgagtt	10	10	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:152276878G>A	uc001ezu.1	-	3	10520	c.10484C>T	c.(10483-10485)TCA>TTA	p.S3495L		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3495	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCATCTCCTGATTGTTCGTC	0.577									Ichthyosis				A	152276878	G	A	152276878	3	1	73	1	0	0	0	0	1	0	0	0	5922	1294	45	4	1705	4	FLG	1	152276878	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	85401	152276878	96973743	47	49225											
FLG	2312	broad.mit.edu	37	chr1	152280586	152280586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggacgcagacccagacCgcctctcagaatcttctgag	9	14	4	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:152280586C>T	uc001ezu.1	-	3	6812	c.6776G>A	c.(6775-6777)CGG>CAG	p.R2259Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2259	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCCAGACCGCCTCTCAGA	0.587									Ichthyosis				T	152280586	C	T	152280586	3	4	73	1	0	0	0	0	1	0	0	0	5922	652	23	1	5413	1	FLG	1	152280586	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3708	152280586	96970035	48	49226											
FLG	2312	broad.mit.edu	37	chr1	152282533	152282533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggaagccgactcagacCgcctctcagagtcttctgag	10	13	5	3	rs148200894	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:152282533C>T	uc001ezu.1	-	3	4865	c.4829G>A	c.(4828-4830)CGG>CAG	p.R1610Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1610	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGACTCAGACCGCCTCTCAGA	0.567									Ichthyosis				T	152282533	C	T	152282533	3	4	73	1	0	0	0	0	1	0	0	0	5922	652	23	1	7360	1	FLG	1	152282533	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1947	152282533	96968088	49	49227											
LCE1D	353134	broad.mit.edu	37	chr1	152770396	152770396	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtctcttcctgctgcagtgtCagctccggaggctgctgtgg	14	12	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:152770396C>A	uc009wnp.2	+	2	169	c.126C>A	c.(124-126)GTC>GTA	p.V42V		NM_178352	NP_848129	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	42	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm					0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCAGTGTCAGCTCCGGAG	0.562													A	152770396	C	A	152770396	2	1	73	1	0	0	0	0	0	0	0	1	8662	813	29	5		5	LCE1D	1	152770396	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	487863	152770396	96480225	50	49228											
NUP210L	91181	broad.mit.edu	37	chr1	154030659	154030659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttggaagagccaagaacccTcacagtcactaacacagttt	7	11	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:154030659T>G	uc001fdw.2	-	22	3085	c.3013A>C	c.(3013-3015)AGG>CGG	p.R1005R	NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Silent_p.R1005R	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	1005				R -> K (in Ref. 1; BAC87279).		integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCAAGAACCCTCACAGTCACT	0.398													G	154030659	T	G	154030659	2	3	73	1	0	0	0	0	0	0	0	1	10761	1550	54	5		5	NUP210L	1	154030659	Silent	SNP	T	TCGA-BR-8360-01A-11D-2340-08	1260263	154030659	95219962	51	49229											
ZBTB7B	51043	broad.mit.edu	37	chr1	154988174	154988174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgctcccagatgcctcaGgagtgccctgtctgccacaa	10	17	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:154988174G>A	uc001fgk.3	+	3	1196	c.1038G>A	c.(1036-1038)CAG>CAA	p.Q346Q	ZBTB7B_uc009wpa.2_Silent_p.Q346Q|ZBTB7B_uc001fgj.3_Silent_p.Q380Q|ZBTB7B_uc010peq.1_Silent_p.Q380Q|ZBTB7B_uc001fgl.3_Silent_p.Q346Q	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	346	C2H2-type 1.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	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)			AGATGCCTCAGGAGTGCCCTG	0.622													A	154988174	G	A	154988174	2	1	73	1	0	0	0	0	0	0	0	1	17551	991	35	4		4	ZBTB7B	1	154988174	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	957515	154988174	94262447	52	49230											
MEX3A	92312	broad.mit.edu	37	chr1	156046750	156046750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtggcgttctcctggcccGcccacagcggggggctagtc	16	15	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:156046750G>A	uc001fnd.3	-	2	1178	c.1178C>T	c.(1177-1179)GCG>GTG	p.A393V		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	393						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					CTCCTGGCCCGCCCACAGCGG	0.597													A	156046750	G	A	156046750	3	1	73	1	0	0	0	0	1	0	0	0	9509	1087	38	1	388	1	MEX3A	1	156046750	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1058576	156046750	93203871	53	49231											
INSRR	3645	broad.mit.edu	37	chr1	156811544	156811544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccccttcccacccttgCggtaatagtctgtctcatac	7	16	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:156811544C>T	uc010pht.1	-	20	3694	c.3440G>A	c.(3439-3441)CGC>CAC	p.R1147H	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	1147	Cytoplasmic (Potential).|Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCACCCTTGCGGTAATAGTC	0.612													T	156811544	C	T	156811544	3	4	73	1	0	0	0	0	1	0	0	0	7774	768	27	1	464	1	INSRR	1	156811544	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	764794	156811544	92439077	54	49232											
FCRL1	115350	broad.mit.edu	37	chr1	157765955	157765955	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcctggaatagatgtctaaGgaaacctggaagcaaagatt	11	6	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:157765955G>T	uc001frg.2	-	11	1337	c.1224C>A	c.(1222-1224)TCC>TCA	p.S408S	FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Silent_p.S407S|FCRL1_uc001fri.2_Missense_Mutation_p.P366H|FCRL1_uc001frj.2_RNA	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	408	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			skin(4)|ovary(3)	7	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGATGTCTAAGGAAACCTGGA	0.448													T	157765955	G	T	157765955	2	4	73	1	0	0	0	0	0	0	0	1	5794	1000	35	5		5	FCRL1	1	157765955	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	954411	157765955	91484666	55	49233											
CD1A	909	broad.mit.edu	37	chr1	158224939	158224939	+	Missense_Mutation	SNP	C	C	A													tttacaaccattcctggaaaCaaaatctggtctcaggttgg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:158224939C>A	uc001frt.2	+	2	657	c.124C>A	c.(124-126)CAA>AAA	p.Q42K		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	42	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TTCCTGGAAACAAAATCTGGT	0.498													A	158224939	C	A	158224939	3	1	73	1	0	0	0	0	1	0	0	0	2974	479	17	5	130	5	CD1A	1	158224939	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	458984	158224939	91025682	56	49234	189	2									
CD1A	909	broad.mit.edu	37	chr1	158224948	158224948	+	Missense_Mutation	SNP	G	G	A													attcctggaaacaaaatctgGtctcaggttggctgagtgat							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:158224948G>A	uc001frt.2	+	2	666	c.133G>A	c.(133-135)GTC>ATC	p.V45I		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	45	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACAAAATCTGGTCTCAGGTTG	0.498													A	158224948	G	A	158224948	3	1	73	1	0	0	0	0	1	0	0	0	2974	1261	44	4	139	4	CD1A	1	158224948	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	9	158224948	91025673	57	49235	189	2									
MNDA	4332	broad.mit.edu	37	chr1	158813818	158813818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagagcagagtaagccccCaggtccctcaggagccagca	11	15	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:158813818C>T	uc001fsz.1	+	4	676	c.476C>T	c.(475-477)CCA>CTA	p.P159L		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	159					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					AGTAAGCCCCCAGGTCCCTCA	0.463													T	158813818	C	T	158813818	3	4	73	1	0	0	0	0	1	0	0	0	9676	594	21	4	486	4	MNDA	1	158813818	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	588870	158813818	90436803	58	49236											
CADM3	57863	broad.mit.edu	37	chr1	159163671	159163671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactctaggagaaccaaccCgcatacaggaagatcccaat	8	13	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:159163671C>T	uc001ftl.2	+	5	674	c.532C>T	c.(532-534)CGC>TGC	p.R178C	CADM3_uc009wsy.1_Missense_Mutation_p.R178C|CADM3_uc001ftk.2_Missense_Mutation_p.R212C	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	178	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					AGAACCAACCCGCATACAGGA	0.502													T	159163671	C	T	159163671	3	4	73	1	0	0	0	0	1	0	0	0	2568	652	23	1	656	1	CADM3	1	159163671	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	349853	159163671	90086950	59	49237											
IGSF8	93185	broad.mit.edu	37	chr1	160062767	160062767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgggcactggctgcttcaCgaagccgggtcccagaccct	12	15	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:160062767C>T	uc001fva.2	-	4	1304	c.1259G>A	c.(1258-1260)CGT>CAT	p.R420H	IGSF8_uc001fuz.2_Missense_Mutation_p.R420H|IGSF8_uc009wtf.2_Missense_Mutation_p.R420H	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	420	Ig-like C2-type 3.|Extracellular (Potential).				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding				0	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGCTGCTTCACGAAGCCGGGT	0.652													T	160062767	C	T	160062767	3	4	73	1	0	0	0	0	1	0	0	0	7604	536	19	1	594	1	IGSF8	1	160062767	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	899096	160062767	89187854	60	49238											
ATP1A4	480	broad.mit.edu	37	chr1	160121890	160121890	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaccagagtccaagacgaagAcctaaaaaagggcttatcaa	9	9	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:160121890A>T	uc001fve.3	+	1	539	c.60A>T	c.(58-60)AGA>AGT	p.R20S	ATP1A4_uc001fvf.3_RNA	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	20	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAGACGAAGACCTAAAAAAG	0.488													T	160121890	A	T	160121890	3	4	73	1	0	0	0	0	1	0	0	0	1131	272	10	5	62	5	ATP1A4	1	160121890	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	59123	160121890	89128731	61	49239											
CASQ1	844	broad.mit.edu	37	chr1	160165279	160165279	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccttcgaggatgcagctgaGgagtttcatccctacatccc	10	13	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:160165279G>T	uc010pja.1	+	5	863	c.606G>T	c.(604-606)GAG>GAT	p.E202D		NM_001231	NP_001222	P31415	CASQ1_HUMAN	calsequestrin 1	202						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			central_nervous_system(1)	1	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGCAGCTGAGGAGTTTCATC	0.562													T	160165279	G	T	160165279	3	4	73	1	0	0	0	0	1	0	0	0	2680	991	35	5	624	5	CASQ1	1	160165279	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	43389	160165279	89085342	62	49240											
VANGL2	57216	broad.mit.edu	37	chr1	160390844	160390844	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcctgttcctgtgcagaaAacagcaccaacaactccact	5	14	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:160390844A>C	uc001fwb.1	+	7	1239	c.940A>C	c.(940-942)AAC>CAC	p.N314H	VANGL2_uc001fwc.1_Missense_Mutation_p.N314H	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	314	Cytoplasmic (Potential).				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGTGCAGAAAACAGCACCAA	0.552													C	160390844	A	C	160390844	3	2	73	1	0	0	0	0	1	0	0	0	17117	14	1	5	958	5	VANGL2	1	160390844	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	225565	160390844	88859777	63	49241											
SLAMF7	57823	broad.mit.edu	37	chr1	160721212	160721212	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cccattctggagagaacacaGagtacgacacaatccctcac	7	14	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:160721212G>C	uc001fwq.2	+	5	862	c.847G>C	c.(847-849)GAG>CAG	p.E283Q	SLAMF7_uc010pjn.1_Missense_Mutation_p.E189Q|SLAMF7_uc001fws.2_Missense_Mutation_p.E176Q|SLAMF7_uc001fwr.2_Intron|SLAMF7_uc010pjo.1_Missense_Mutation_p.E152Q|SLAMF7_uc010pjp.1_Missense_Mutation_p.E136Q|SLAMF7_uc010pjq.1_Intron|SLAMF7_uc010pjr.1_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	283	Cytoplasmic (Potential).				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			skin(2)|ovary(1)	3	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGAGAACACAGAGTACGACAC	0.453													C	160721212	G	C	160721212	3	2	73	1	0	0	0	0	1	0	0	0	14369	943	33	5	865	5	SLAMF7	1	160721212	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	330368	160721212	88529409	64	49242											
ADAMTS4	9507	broad.mit.edu	37	chr1	161163914	161163914	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caatggcgtgagtcgggcccGaaggtcagctggcactggcg	17	11	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:161163914G>A	uc001fyt.3	-	5	1787	c.1359C>T	c.(1357-1359)TTC>TTT	p.F453F		NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	453	Disintegrin.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGTCGGGCCCGAAGGTCAGCT	0.602													A	161163914	G	A	161163914	2	1	73	1	0	0	0	0	0	0	0	1	268	1049	37	1		1	ADAMTS4	1	161163914	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	442702	161163914	88086707	65	49243											
HSPA6	3310	broad.mit.edu	37	chr1	161495916	161495916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctaatggcatcctgagcGtgacagccactgacaggagc	12	11	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:161495916G>A	uc001gap.2	+	2	2128	c.1468G>A	c.(1468-1470)GTG>ATG	p.V490M	HSPA6_uc001gaq.2_Missense_Mutation_p.V490M	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	490					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CATCCTGAGCGTGACAGCCAC	0.552													A	161495916	G	A	161495916	3	1	73	1	0	0	0	0	1	0	0	0	7415	1145	40	1	1470	1	HSPA6	1	161495916	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	332002	161495916	87754705	66	49244											
LMX1A	4009	broad.mit.edu	37	chr1	165218837	165218837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataacaaactcattgggagCgatggcctcgaagcagcccc	10	13	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:165218837C>T	uc001gcy.1	-	3	525	c.304G>A	c.(304-306)GCT>ACT	p.A102T	LMX1A_uc001gcz.1_Missense_Mutation_p.A102T	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	102	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	all_hematologic(923;0.248)					TCATTGGGAGCGATGGCCTCG	0.532													T	165218837	C	T	165218837	3	4	73	1	0	0	0	0	1	0	0	0	8861	768	27	1	868	1	LMX1A	1	165218837	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3722921	165218837	84031784	67	49245											
SELE	6401	broad.mit.edu	37	chr1	169699580	169699580	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagggatttaccattgcaGgctggaataggagcactcca	12	9	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:169699580G>T	uc001ggm.3	-	5	865	c.708C>A	c.(706-708)GCC>GCA	p.A236A	C1orf112_uc001ggj.2_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	selectin E precursor	236	Sushi 1.|Extracellular (Potential).				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			ovary(3)|skin(2)	5	all_hematologic(923;0.208)					TACCATTGCAGGCTGGAATAG	0.448													T	169699580	G	T	169699580	2	4	73	1	0	0	0	0	0	0	0	1	14013	987	35	5		5	SELE	1	169699580	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	4480743	169699580	79551041	68	49246											
KIFAP3	22920	broad.mit.edu	37	chr1	170024447	170024447	+	Frame_Shift_Del	DEL	T	T	-													gcacaaataaagaacttacaTtttttgacattcttttcgtt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:170024447delT	uc001ggv.2	-	2	434	c.163delA	c.(163-165)ATCfs	p.I55fs	KIFAP3_uc010ply.1_5'UTR|KIFAP3_uc001ggw.1_Intron	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	55					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAACTTACATTTTTTGACAT	0.333													-	170024447	T	-	170024447	7	5	73	1	0	1	0	1	0	0	0	0	8311	1507	52	0	2291	0	KIFAP3	1	170024447	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	324867	170024447	79226174	69	49247											
C1orf9	51430	broad.mit.edu	37	chr1	172558186	172558186	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctttatcggcagcgcagcCgaactgctttgagtaaagga	11	10	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:172558186C>T	uc001giq.3	+	18	2261	c.1945C>T	c.(1945-1947)CGA>TGA	p.R649*	C1orf9_uc010pmm.1_Nonsense_Mutation_p.R649*|C1orf9_uc009wwd.2_Nonsense_Mutation_p.R605*|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	649					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		GCAGCGCAGCCGAACTGCTTT	0.388													T	172558186	C	T	172558186	4	4	73	1	0	0	0	0	0	1	0	0	2067	644	23	1	2015	1	C1orf9	1	172558186	Nonsense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2533739	172558186	76692435	70	49248											
RFWD2	64326	broad.mit.edu	37	chr1	176015447	176015447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaaaatagtcacaatcccGgtcaaattcaatactaaggg	7	10	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:176015447G>A	uc001gku.1	-	12	1547	c.1291C>T	c.(1291-1293)CGG>TGG	p.R431W	RFWD2_uc001gkv.1_Missense_Mutation_p.R407W|RFWD2_uc001gkw.1_Missense_Mutation_p.R191W|RFWD2_uc009wwv.2_Missense_Mutation_p.R230W|RFWD2_uc001gkt.1_Missense_Mutation_p.R270W	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2 isoform a	431	WD 1.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						TCACAATCCCGGTCAAATTCA	0.343													A	176015447	G	A	176015447	3	1	73	1	0	0	0	0	1	0	0	0	13260	1115	39	1	940	1	RFWD2	1	176015447	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	3457261	176015447	73235174	71	49249											
ASTN1	460	broad.mit.edu	37	chr1	177001771	177001771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcccggatgctcagggtgCcactggagttgtggccctgc	14	13	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:177001771C>T	uc001glc.2	-	3	898	c.686G>A	c.(685-687)GGC>GAC	p.G229D	ASTN1_uc001glb.1_Missense_Mutation_p.G229D|ASTN1_uc001gld.1_Missense_Mutation_p.G229D|ASTN1_uc009wwx.1_Missense_Mutation_p.G229D|ASTN1_uc001gle.3_RNA	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	229					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						GCTCAGGGTGCCACTGGAGTT	0.602													T	177001771	C	T	177001771	3	4	73	1	0	0	0	0	1	0	0	0	1064	739	26	2	3286	2	ASTN1	1	177001771	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	986324	177001771	72248850	72	49250											
FAM5B	57795	broad.mit.edu	37	chr1	177199054	177199054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtttagagggcttcggccGgcggtggccccatggacagc	17	12	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:177199054G>A	uc001glf.2	+	2	354	c.42G>A	c.(40-42)CCG>CCA	p.P14P		NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	14						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						GGCTTCGGCCGGCGGTGGCCC	0.667													A	177199054	G	A	177199054	2	1	73	1	0	0	0	0	0	0	0	1	5593	1103	39	1		1	FAM5B	1	177199054	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	197283	177199054	72051567	73	49251											
GLUL	2752	broad.mit.edu	37	chr1	182353564	182353564	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttgtactggaagggctcAtcgccggtttcattgagaag	12	7	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:182353564A>G	uc001gpa.1	-	7	1310	c.1098T>C	c.(1096-1098)GAT>GAC	p.D366D	GLUL_uc010pnt.1_Silent_p.D153D|GLUL_uc001gpb.1_Silent_p.D366D|GLUL_uc001gpc.1_Silent_p.D366D|GLUL_uc001gpd.1_Silent_p.D366D	NM_001033056	NP_001028228	P15104	GLNA_HUMAN	glutamine synthetase	366					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding				0					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	GGAAGGGCTCATCGCCGGTTT	0.532													G	182353564	A	G	182353564	2	3	73	1	0	0	0	0	0	0	0	1	6478	214	8	3		3	GLUL	1	182353564	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	5154510	182353564	66897057	74	49252											
RNASEL	6041	broad.mit.edu	37	chr1	182545526	182545527	+	Splice_Site	INS	-	-	AA													cataacacattcattaatctINSaaaaaaacaaaaaataacac							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:182545526_182545527insAA	uc001gpj.1	-	5	2073	c.1906_splice	c.e5-1	p.I636_splice	RNASEL_uc009wxz.1_Splice_Site_p.I636_splice	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L						mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			ovary(4)|stomach(1)	5						TTCATTAATCTAAAAAAACAAA	0.267									Hereditary_Prostate_Cancer				AA	182545527	-	AA	182545526	8	5	73	1	0	1	1	0	0	0	1	0	13416	1536	53	0	329	0	RNASEL	1	182545526	Splice_Site	INS	-	TCGA-BR-8360-01A-11D-2340-08	191962	182545526	66705095	75	49253											
DHX9	1660	broad.mit.edu	37	chr1	182844070	182844070	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaggataaggatgatgAtggtggtgaggatgatgatg	18	0	0	6			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:182844070A>G	uc001gpr.2	+	16	1959	c.1796A>G	c.(1795-1797)GAT>GGT	p.D599G	DHX9_uc001gps.2_Missense_Mutation_p.D385G	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	599					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2						aaggatgatgatggtggtgag	0.303													G	182844070	A	G	182844070	3	3	73	1	0	0	0	0	1	0	0	0	4516	333	12	3	1854	3	DHX9	1	182844070	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	298544	182844070	66406551	76	49254											
LAMC1	3915	broad.mit.edu	37	chr1	183079760	183079760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccggccgtggaggagggCaactgcggaaagtgccagtg	18	9	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:183079760C>T	uc001gpy.3	+	4	1249	c.992C>T	c.(991-993)GCA>GTA	p.A331V		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	331	Laminin EGF-like 1.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGAGGAGGGCAACTGCGGAA	0.483													T	183079760	C	T	183079760	3	4	73	1	0	0	0	0	1	0	0	0	8614	710	25	2	1006	2	LAMC1	1	183079760	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	235690	183079760	66170861	77	49255											
IVNS1ABP	10625	broad.mit.edu	37	chr1	185277957	185277958	+	Frame_Shift_Ins	INS	-	-	T													tactcgatccatcttcagctINStttttgctgcagaataaaca							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:185277956_185277957C>CT	uc001grl.3	-	4	955_956	c.332_333G>AG	c.(331-333)aagfs	p.K111fs	IVNS1ABP_uc001grj.3_5'Flank|IVNS1ABP_uc009wyj.3_5'UTR|IVNS1ABP_uc009wyk.3_Non-coding_Transcript	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	Homo sapiens influenza virus NS1A binding protein (IVNS1ABP), mRNA.	111				K -> E (in Ref. 1; CAA10029).	RNA splicing|interspecies interaction between organisms|response to virus|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CCATCTTCAGCTTTTTTGCTGC	0.302													T	185277958	-	T	185277957	7	5	73	1	0	1	1	0	0	0	0	0	7930	1609	56	0	1640	0	IVNS1ABP	1	185277957	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	2198197	185277957	63972664	78	49256											
PRG4	10216	broad.mit.edu	37	chr1	186273298	186273298	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccaccttcaggagcatcTcaaaccatcaaatcaacaac	3	16	4	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:186273298T>G	uc001gru.3	+	5	429	c.378T>G	c.(376-378)TCT>TCG	p.S126S	PRG4_uc001grt.3_Silent_p.S85S|PRG4_uc009wyl.2_Intron|PRG4_uc009wym.2_Intron|PRG4_uc010poo.1_RNA	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	126					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CAGGAGCATCTCAAACCATCA	0.403													G	186273298	T	G	186273298	2	3	73	1	0	0	0	0	0	0	0	1	12481	1538	54	5		5	PRG4	1	186273298	Silent	SNP	T	TCGA-BR-8360-01A-11D-2340-08	995341	186273298	62977323	79	49257											
FAM5C	339479	broad.mit.edu	37	chr1	190233999	190233999	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaaactcattcttacctttAtggcagtggatgcaatttga	8	7	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:190233999A>C	uc001gse.1	-	4	846	c.614T>G	c.(613-615)ATA>AGA	p.I205R	FAM5C_uc010pot.1_Missense_Mutation_p.I103R	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	205						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					TCTTACCTTTATGGCAGTGGA	0.393													C	190233999	A	C	190233999	3	2	73	1	0	0	0	0	1	0	0	0	5594	449	16	5	1706	5	FAM5C	1	190233999	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	3960701	190233999	59016622	80	49258											
RGS1	5996	broad.mit.edu	37	chr1	192548282	192548282	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttagatcaatattgacttcCgcactcgagaatctacagcc	6	11	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:192548282C>A	uc001gsi.1	+	5	526	c.460C>A	c.(460-462)CGC>AGC	p.R154S		NM_002922	NP_002913	Q08116	RGS1_HUMAN	regulator of G-protein signalling 1	154	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity				0		Breast(1374;0.188)				TATTGACTTCCGCACTCGAGA	0.333													A	192548282	C	A	192548282	3	1	73	1	0	0	0	0	1	0	0	0	13292	652	23	5	478	5	RGS1	1	192548282	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2314283	192548282	56702339	81	49259											
ASPM	259266	broad.mit.edu	37	chr1	197070110	197070110	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgatacatttttcaaTttttgtctaactttcatgcc	3	10	4	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:197070110T>A	uc001gtu.2	-	18	8528	c.8271A>T	c.(8269-8271)AAA>AAT	p.K2757N	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.K605N	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2757	IQ 31.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						CATTTTTCAATTTTTGTCTAA	0.348													A	197070110	T	A	197070110	3	1	73	1	0	0	0	0	1	0	0	0	1056	1490	52	5	2206	5	ASPM	1	197070110	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	4521828	197070110	52180511	82	49260											
PTPRC	5788	broad.mit.edu	37	chr1	198701498	198701498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttaaccagaataaaaacCgttatgttgacattcttcct	4	10	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:198701498C>T	uc001gur.1	+	19	2218	c.2038C>T	c.(2038-2040)CGT>TGT	p.R680C	PTPRC_uc001gus.1_Missense_Mutation_p.R632C|PTPRC_uc001gut.1_Missense_Mutation_p.R519C|PTPRC_uc009wzf.1_Missense_Mutation_p.R568C|PTPRC_uc010ppg.1_Missense_Mutation_p.R616C	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	680	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						GAATAAAAACCGTTATGTTGA	0.363													T	198701498	C	T	198701498	3	4	73	1	0	0	0	0	1	0	0	0	12797	652	23	1	2119	1	PTPRC	1	198701498	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1631388	198701498	50549123	83	49261											
IGFN1	91156	broad.mit.edu	37	chr1	201186437	201186437	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccaaggccccttccgcGccagccatcctgtcggcctc	8	22	0	0	rs142174046	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:201186437G>A	uc001gwc.2	+	6	1870	c.1098G>A	c.(1096-1098)GCG>GCA	p.A366A	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						CCCCTTCCGCGCCAGCCATCC	0.677													A	201186437	G	A	201186437	2	1	73	1	0	0	0	0	0	0	0	1	7590	1074	38	1		1	IGFN1	1	201186437	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2484939	201186437	48064184	84	49262											
LEMD1	93273	broad.mit.edu	37	chr1	205388453	205388453	+	Frame_Shift_Del	DEL	T	T	-													agaccaacaactgtactaacTttttttcatacaactttctg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:205388453delT	uc001hcj.1	-	3	212	c.110delA	c.(109-111)AAGfs	p.K37fs	LEMD1_uc001hci.1_Frame_Shift_Del_p.K37fs|LEMD1_uc001hck.1_RNA|LEMD1_uc001hcl.1_Intron|LEMD1_uc001hcm.1_Intron|LEMD1_uc001hcn.1_Intron			Q68G75	LEMD1_HUMAN	RecName: Full=LEM domain-containing protein 1;          Short=LEMP-1; AltName: Full=Cancer/testis antigen 50;          Short=CT50;	37	LEM.					integral to membrane|nuclear envelope					0	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			CTGTACTAACTTTTTTTCATA	0.433													-	205388453	T	-	205388453	7	5	73	1	0	1	0	1	0	0	0	0	8719	1609	56	0	224	0	LEMD1	1	205388453	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	4202016	205388453	43862168	85	49263											
PLXNA2	5362	broad.mit.edu	37	chr1	208216456	208216456	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcccgggaacaggactcGcatagcgtaggtacgatagt	14	9	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:208216456G>A	uc001hgz.2	-	21	4725	c.3967C>T	c.(3967-3969)CGA>TGA	p.R1323*		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1323	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AACAGGACTCGCATAGCGTAG	0.602													A	208216456	G	A	208216456	4	1	73	1	0	0	0	0	0	1	0	0	12120	1095	38	1	1765	1	PLXNA2	1	208216456	Nonsense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2828003	208216456	41034165	86	49264											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209933484	209933484	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagagatccgtgaaagccgcCgctgccgtcccaatgtgacc	11	14	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:209933484C>A	uc001hho.2	+	3	390	c.100C>A	c.(100-102)CGC>AGC	p.R34S	TRAF3IP3_uc001hhl.2_Missense_Mutation_p.R34S|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.R34S|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.R34S|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.R34S	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	34	Cytoplasmic (Potential).					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TGAAAGCCGCCGCTGCCGTCC	0.627													A	209933484	C	A	209933484	3	1	73	1	0	0	0	0	1	0	0	0	16439	652	23	5	102	5	TRAF3IP3	1	209933484	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1717028	209933484	39317137	87	49265											
C1orf107	27042	broad.mit.edu	37	chr1	210004282	210004282	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagatgaggaggaggaagaGgaagaagacagtattgtaga	17	1	0	6			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:210004282G>A	uc001hhr.1	+	3	358	c.282G>A	c.(280-282)GAG>GAA	p.E94E	C1orf107_uc009xcu.1_5'UTR	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	digestive-organ expansion factor homolog	94	Glu-rich.				multicellular organismal development	nucleus					0				OV - Ovarian serous cystadenocarcinoma(81;0.0367)		aggaggaagaggaagaagaCA	0.338													A	210004282	G	A	210004282	2	1	73	1	0	0	0	0	0	0	0	1	1981	991	35	4		4	C1orf107	1	210004282	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	70798	210004282	39246339	88	49266											
KCNK2	3776	broad.mit.edu	37	chr1	215342563	215342563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttggaaacatctcaccacGcacagaaggcggcaaaatat	8	10	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:215342563G>A	uc001hkq.2	+	4	666	c.497G>A	c.(496-498)CGC>CAC	p.R166H	KCNK2_uc001hko.2_Missense_Mutation_p.R162H|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.R151H	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	166							outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	ATCTCACCACGCACAGAAGGC	0.294													A	215342563	G	A	215342563	3	1	73	1	0	0	0	0	1	0	0	0	8066	1087	38	1	554	1	KCNK2	1	215342563	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	5338281	215342563	33908058	89	49267											
IARS2	55699	broad.mit.edu	37	chr1	220311323	220311323	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggtagctgattccaatGtcttcaccgaagttgcaatt	11	8	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:220311323G>T	uc001hmc.2	+	17	2217	c.2113G>T	c.(2113-2115)GTC>TTC	p.V705F	IARS2_uc001hmd.2_Missense_Mutation_p.V41F	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	705					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGATTCCAATGTCTTCACCGA	0.413													T	220311323	G	T	220311323	3	4	73	1	0	0	0	0	1	0	0	0	7474	1377	48	5	2179	5	IARS2	1	220311323	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	4968760	220311323	28939298	90	49268											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220327384	220327384	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattgaagttaggtctttgaAaaatgcattttttccctaaa	6	5	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:220327384A>G	uc010puk.1	-	32	3735	c.3571T>C	c.(3571-3573)TTC>CTC	p.F1191L	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.F771L|RAB3GAP2_uc001hmh.2_Missense_Mutation_p.F135L	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	1191					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)		AGGTCTTTGAAAAATGCATTT	0.318													G	220327384	A	G	220327384	3	3	73	1	0	0	0	0	1	0	0	0	12936	14	1	3	626	3	RAB3GAP2	1	220327384	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	16061	220327384	28923237	91	49269											
MIA3	375056	broad.mit.edu	37	chr1	222802633	222802634	+	Frame_Shift_Ins	INS	-	-	T													ggactccttggatgaagagtINStttttcatcacaaggcaatg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:222802632_222802633G>GT	uc001hnl.3	+	3	2079_2080	c.2070_2071G>GT	c.(2068-2073)gagtttfs	p.E690fs	MIA3_uc009xea.1_Frame_Shift_Ins_p.E526fs	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	690					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TGGATGAAGAGTTTTTTCATCA	0.48													T	222802634	-	T	222802633	7	5	73	1	0	1	1	0	0	0	0	0	9565	1725	60	0	2085	0	MIA3	1	222802633	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	2475249	222802633	26447988	92	49270											
EPHX1	2052	broad.mit.edu	37	chr1	226032198	226032198	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtgttctgcgttcccaGgaagttctccctggacgacc	10	13	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:226032198G>A	uc001hpk.2	+	8	1121	c.1041_splice	c.e8-1	p.R347_splice	EPHX1_uc001hpl.2_Splice_Site_p.R347_splice	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	epoxide hydrolase 1						aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			ovary(3)|lung(1)	4	Breast(184;0.197)					TGCGTTCCCAGGAAGTTCTCC	0.567													A	226032198	G	A	226032198	5	1	73	1	0	0	0	0	0	0	1	0	5179	1014	35	4	1066	4	EPHX1	1	226032198	Splice_Site	SNP	G	TCGA-BR-8360-01A-11D-2340-08	3229565	226032198	23218423	93	49271											
SNAP47	116841	broad.mit.edu	37	chr1	227935782	227935782	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagacgcatctgtcccAaggacccggggcgaggagct	16	12	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:227935782A>G	uc001hrf.2	+	2	894	c.480A>G	c.(478-480)CCA>CCG	p.P160P	SNAP47_uc001hqz.2_Silent_p.P115P|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_Silent_p.P160P|SNAP47_uc001hre.2_Intron|SNAP47_uc001hrg.1_Silent_p.P115P	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	160	t-SNARE coiled-coil homology 1.					endomembrane system|membrane|perinuclear region of cytoplasm				ovary(1)	1						CATCTGTCCCAAGGACCCGGG	0.637													G	227935782	A	G	227935782	2	3	73	1	0	0	0	0	0	0	0	1	14832	117	5	3		3	SNAP47	1	227935782	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	1903584	227935782	21314839	94	49272											
ARF1	375	broad.mit.edu	37	chr1	228285130	228285130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagatccggcccctgtggcGccactacttccagaacacac	8	17	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:228285130G>A	uc001hrr.2	+	3	464	c.236G>A	c.(235-237)CGC>CAC	p.R79H	ARF1_uc001hrs.2_Missense_Mutation_p.R79H|ARF1_uc001hrt.2_Intron|ARF1_uc009xev.2_Intron|ARF1_uc001hru.2_Missense_Mutation_p.R79H|ARF1_uc001hrv.2_Missense_Mutation_p.R79H|ARF1_uc001hrw.2_Missense_Mutation_p.R79H	NM_001024226	NP_001019397	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	79					cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity				0		Prostate(94;0.0405)				CCCCTGTGGCGCCACTACTTC	0.602													A	228285130	G	A	228285130	3	1	73	1	0	0	0	0	1	0	0	0	844	1087	38	1	242	1	ARF1	1	228285130	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	349348	228285130	20965491	95	49273											
OBSCN	84033	broad.mit.edu	37	chr1	228538598	228538598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgtggagggagaggacGcccagttcacctgcaccatc	12	13	1	1	rs151074400	by1000genomes	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:228538598G>A	uc009xez.1	+	77	18417	c.18373G>A	c.(18373-18375)GCC>ACC	p.A6125T	OBSCN_uc001hsn.2_Missense_Mutation_p.A6125T|OBSCN_uc001hsr.1_Missense_Mutation_p.A754T|OBSCN_uc009xfa.2_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6125	Ig-like 53.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GGGAGAGGACGCCCAGTTCAC	0.597													A	228538598	G	A	228538598	3	1	73	1	0	0	0	0	1	0	0	0	10812	1087	38	1	18675	1	OBSCN	1	228538598	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	253468	228538598	20712023	96	49274											
NUP133	55746	broad.mit.edu	37	chr1	229619808	229619808	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacatgttatacctgcagtAttgcagaaaggcagctttca	8	8	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:229619808A>G	uc001htn.2	-	12	1677	c.1585T>C	c.(1585-1587)TAC>CAC	p.Y529H		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	529					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TACCTGCAGTATTGCAGAAAG	0.348													G	229619808	A	G	229619808	3	3	73	1	0	0	0	0	1	0	0	0	10754	449	16	3	1945	3	NUP133	1	229619808	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	1081210	229619808	19630813	97	49275											
TRIM67	440730	broad.mit.edu	37	chr1	231299602	231299602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggcgactgggggcagcaCggcccgcaagttccccacgt	17	14	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:231299602C>T	uc009xfn.1	+	1	929	c.887C>T	c.(886-888)ACG>ATG	p.T296M		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	296						cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGGGGCAGCACGGCCCGCAAG	0.706													T	231299602	C	T	231299602	3	4	73	1	0	0	0	0	1	0	0	0	16537	536	19	1	889	1	TRIM67	1	231299602	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1679794	231299602	17951019	98	49276											
C1orf57	84284	broad.mit.edu	37	chr1	233105691	233105691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagggcaaagagtgtgcGtcatcgatgagattgggaag	16	7	1	2	rs138687966		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:233105691G>A	uc001hvj.1	+	4	418	c.331G>A	c.(331-333)GTC>ATC	p.V111I	C1orf57_uc001hvi.2_Missense_Mutation_p.V111I|C1orf57_uc009xft.1_Intron	NM_032324	NP_115700	Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase C1orf57	111	ATP (Probable).						ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity				0		all_cancers(173;0.0818)|Prostate(94;0.137)				AAGAGTGTGCGTCATCGATGA	0.507													A	233105691	G	A	233105691	3	1	73	1	0	0	0	0	1	0	0	0	2049	1145	40	1	345	1	C1orf57	1	233105691	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1806089	233105691	16144930	99	49277											
RYR2	6262	broad.mit.edu	37	chr1	237755119	237755119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtccttgctgatgatcGggatgactatgatttcttga	11	6	1	6			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:237755119G>A	uc001hyl.1	+	32	4361	c.4241G>A	c.(4240-4242)CGG>CAG	p.R1414Q		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1414	Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTGATGATCGGGATGACTAT	0.398													A	237755119	G	A	237755119	3	1	73	1	0	0	0	0	1	0	0	0	13769	1116	39	1	4367	1	RYR2	1	237755119	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	4649428	237755119	11495502	100	49278											
KIF26B	55083	broad.mit.edu	37	chr1	245849479	245849479	+	Frame_Shift_Del	DEL	C	C	-													caagcccaggcccatgggctCcccccggctgggcatcgcca							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:245849478_245849478TC>T	uc001ibf.1	+	11	3633	c.3193_3193TC>T	c.(3193-3195)tccfs	p.S1065fs	KIF26B_uc001ibg.1_Frame_Shift_Del_p.S683fs|KIF26B_uc001ibh.1_Frame_Shift_Del_p.S307fs	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1065					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCCCATGGGCTCCCCCCGGCT	0.662													-	245849479	C	-	245849479	7	5	73	1	0	1	0	1	0	0	0	0	8295	855	30	0	3240	0	KIF26B	1	245849479	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	8094360	245849479	3401142	101	49279											
OR2W5	441932	broad.mit.edu	37	chr1	247654684	247654684	+	Frame_Shift_Del	DEL	G	G	-													cctcagctgctgtggaacctGgggggtccagagaagaccat							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:247654684delG	uc001icz.1	+	1	255	c.255delG	c.(253-255)CTGfs	p.L85fs		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGTGGAACCTGGGGGGTCCAG	0.532													-	247654684	G	-	247654684	7	5	73	1	0	1	0	1	0	0	0	0	11034	1335	47	0	257	0	OR2W5	1	247654684	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	1805205	247654684	1595937	102	49280											
OR2C3	81472	broad.mit.edu	37	chr1	247695356	247695356	+	Frame_Shift_Del	DEL	C	C	-													ccaccatgctggtggtcagaCcccccagccaggaggccaaa							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:247695355_247695355AC>A	uc021pmb.1	-	0	459	c.459_459GT>T	c.(457-459)ggtfs	p.G153fs	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Frame_Shift_Del_p.G153fs	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G152V(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGGTGGTCAGACCCCCCAGCC	0.567													-	247695356	C	-	247695356	7	5	73	1	0	1	0	1	0	0	0	0	10993	507	18	0	508	0	OR2C3	1	247695356	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	40672	247695356	1555265	103	49281											
OR6F1	343169	broad.mit.edu	37	chr1	247876039	247876039	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaaagtcctggggcagagTtttgttgcctgtgtccattg	14	7	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:247876039T>C	uc001idj.1	-	1	19	c.19A>G	c.(19-21)ACT>GCT	p.T7A		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	7	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGGGGCAGAGTTTTGTTGCCT	0.448													C	247876039	T	C	247876039	3	2	73	1	0	0	0	0	1	0	0	0	11201	1725	60	3	911	3	OR6F1	1	247876039	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	180683	247876039	1374582	104	49282											
PXDN	7837	broad.mit.edu	37	chr2	1652889	1652889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgagcagcgaagtcatgCcgctgccgcacacagggctg	13	13	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:1652889C>T	uc002qxa.2	-	17	2727	c.2663G>A	c.(2662-2664)GGC>GAC	p.G888D		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	888					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGAAGTCATGCCGCTGCCGCA	0.632													T	1652889	C	T	1652889	3	4	73	1	0	0	0	0	1	0	0	0	12847	739	26	2	1804	2	PXDN	2	1652889	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08		1652889	241546484	105	49283											
TTC15	51112	broad.mit.edu	37	chr2	3392378	3392378	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtggccacccagcagcgCggcgccgtgttcgtggacaa	15	15	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:3392378C>T	uc002qxm.1	+	2	1190	c.984C>T	c.(982-984)CGC>CGT	p.R328R	TTC15_uc002qxn.1_Silent_p.R328R|TTC15_uc010ewm.1_Silent_p.R328R|TTC15_uc002qxl.1_Silent_p.R328R	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	328							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)		CCCAGCAGCGCGGCGCCGTGT	0.697													T	3392378	C	T	3392378	2	4	73	1	0	0	0	0	0	0	0	1	16679	755	27	1		1	TTC15	2	3392378	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1739489	3392378	239806995	106	49284											
ROCK2	9475	broad.mit.edu	37	chr2	11389837	11389838	+	Frame_Shift_Ins	INS	-	-	A													ataatatctctttcttcccaINSaaaaaaggcagaatctgatc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:11389836_11389837C>CA	uc002rbd.1	-	3	861_862	c.412_413G>TG	c.(412-414)tggfs	p.W138fs		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	138	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	p.W138fs*31(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCTTTCTTCCCAAAAAAAGGCA	0.356													A	11389838	-	A	11389837	7	5	73	1	0	1	1	0	0	0	0	0	13518	130	5	0	3874	0	ROCK2	2	11389837	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	7997459	11389837	231809536	107	49285											
LPIN1	23175	broad.mit.edu	37	chr2	11907961	11907961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataatggagaagcattttttGttcaagaaacagataatgat	8	3	1	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:11907961G>A	uc010yjn.1	+	4	539	c.265G>A	c.(265-267)GTT>ATT	p.V89I	LPIN1_uc010yjm.1_Missense_Mutation_p.V138I|LPIN1_uc002rbt.2_Missense_Mutation_p.V89I|LPIN1_uc002rbs.2_Missense_Mutation_p.V89I	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	89	N-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AGCATTTTTTGTTCAAGAAAC	0.393													A	11907961	G	A	11907961	3	1	73	1	0	0	0	0	1	0	0	0	8918	1377	48	4	271	4	LPIN1	2	11907961	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	518124	11907961	231291412	108	49286											
NBAS	51594	broad.mit.edu	37	chr2	15534390	15534390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaatctaaccatcagcttgCgtgcctcttctgagctagat	7	12	5	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:15534390C>T	uc002rcc.1	-	28	3244	c.3218G>A	c.(3217-3219)CGC>CAC	p.R1073H	NBAS_uc010exl.1_Missense_Mutation_p.R145H|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1073										ovary(2)|liver(1)|skin(1)	4						CATCAGCTTGCGTGCCTCTTC	0.338													T	15534390	C	T	15534390	3	4	73	1	0	0	0	0	1	0	0	0	10186	768	27	1	3997	1	NBAS	2	15534390	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3626429	15534390	227664983	109	49287											
DTNB	1838	broad.mit.edu	37	chr2	25650468	25650468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctgctctcctgcagggccGacatcctctgctccagttca	9	17	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:25650468G>A	uc002rgh.2	-	15	1740	c.1490C>T	c.(1489-1491)TCG>TTG	p.S497L	DTNB_uc002rgg.2_Missense_Mutation_p.S126L|DTNB_uc010yko.1_Missense_Mutation_p.S440L|DTNB_uc010ykp.1_Missense_Mutation_p.S293L|DTNB_uc002rgo.2_Missense_Mutation_p.S288L|DTNB_uc002rgi.2_Missense_Mutation_p.S497L|DTNB_uc002rgj.2_Missense_Mutation_p.S497L|DTNB_uc002rgk.2_Missense_Mutation_p.S467L|DTNB_uc002rgl.2_Missense_Mutation_p.S467L|DTNB_uc002rgq.2_Missense_Mutation_p.S497L|DTNB_uc002rgm.2_Missense_Mutation_p.S467L|DTNB_uc002rgn.2_Missense_Mutation_p.S293L|DTNB_uc002rgr.1_Missense_Mutation_p.S486L|DTNB_uc010ykq.1_Missense_Mutation_p.S350L|DTNB_uc002rgp.1_Missense_Mutation_p.S2L	NM_021907	NP_068707	O60941	DTNB_HUMAN	dystrobrevin, beta isoform 1	497	Potential.					cytoplasm	calcium ion binding|zinc ion binding			large_intestine(2)|ovary(2)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCAGGGCCGACATCCTCTG	0.473													A	25650468	G	A	25650468	3	1	73	1	0	0	0	0	1	0	0	0	4789	1059	37	1	417	1	DTNB	2	25650468	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	10116078	25650468	217548905	110	49288											
OTOF	9381	broad.mit.edu	37	chr2	26699057	26699057	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggccctgggctgccttgacCtcctggaagccacagggcag	14	14	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:26699057C>A	uc002rhk.2	-	23	2932	c.2805G>T	c.(2803-2805)GAG>GAT	p.E935D	OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Missense_Mutation_p.E188D|OTOF_uc002rhi.2_Missense_Mutation_p.E245D|OTOF_uc002rhj.2_Missense_Mutation_p.E188D	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	935	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCCTTGACCTCCTGGAAGC	0.652													A	26699057	C	A	26699057	3	1	73	1	0	0	0	0	1	0	0	0	11303	680	24	5	3469	5	OTOF	2	26699057	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1048589	26699057	216500316	111	49289											
PREB	10113	broad.mit.edu	37	chr2	27355197	27355197	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtagcagggagggggcTggcgcaggcgcttgtgggga	23	6	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:27355197T>C	uc002rix.1	-	6	1080	c.827A>G	c.(826-828)CAG>CGG	p.Q276R	PREB_uc002riy.1_Missense_Mutation_p.Q204R|PREB_uc002riz.1_RNA|PREB_uc002rja.1_Intron	NM_013388	NP_037520	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding protein	276	Cytoplasmic (Potential).				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGAGGGGGCTGGCGCAGGCG	0.622													C	27355197	T	C	27355197	3	2	73	1	0	0	0	0	1	0	0	0	12470	1580	55	3	442	3	PREB	2	27355197	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	656140	27355197	215844176	112	49290											
SLC5A6	8884	broad.mit.edu	37	chr2	27426696	27426696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagagccctggcaggcctgGcaggcccttcaggagatcca	14	13	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:27426696G>A	uc002rjd.2	-	10	1436	c.1045C>T	c.(1045-1047)CCA>TCA	p.P349S	SLC5A6_uc010eyv.1_Missense_Mutation_p.P349S	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	349	Helical; (Potential).				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	GGCAGGCCTGGCAGGCCCTTC	0.587													A	27426696	G	A	27426696	3	1	73	1	0	0	0	0	1	0	0	0	14669	1203	42	2	894	2	SLC5A6	2	27426696	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	71499	27426696	215772677	113	49291											
SLC30A3	7781	broad.mit.edu	37	chr2	27478188	27478189	+	Frame_Shift_Ins	INS	-	-	G													agggccatggctcaggcttgINSggggggttcctggcagcgca							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:27478187_27478188T>TG	uc002rjk.3	-	7	1345_1346	c.1159_1160A>CA	c.(1159-1161)caafs	p.Q387fs	SLC30A3_uc002rjj.3_Frame_Shift_Ins_p.P232fs|SLC30A3_uc010ylh.2_Frame_Shift_Ins_p.Q382fs	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.	387					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTCAGGCTTGGGGGGGTTCC	0.658													G	27478189	-	G	27478188	7	5	73	1	0	1	1	0	0	0	0	0	14556	1357	47	0	11	0	SLC30A3	2	27478188	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	51492	27478188	215721185	114	49292											
CCDC88A	55704	broad.mit.edu	37	chr2	55544857	55544857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatcatagagagattttaGgtcttctcgctctttgatta	8	6	4	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:55544857G>A	uc002ryv.2	-	20	4284	c.3442C>T	c.(3442-3444)CTA>TTA	p.L1148L	CCDC88A_uc010yoz.1_Silent_p.L1149L|CCDC88A_uc010ypa.1_Silent_p.L1148L|CCDC88A_uc002ryu.2_Silent_p.L431L|CCDC88A_uc002rys.2_Silent_p.L134L|CCDC88A_uc002ryw.2_Silent_p.L432L|CCDC88A_uc010fby.1_Silent_p.L28L	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	1149	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						AGAGATTTTAGGTCTTCTCGC	0.388													A	55544857	G	A	55544857	2	1	73	1	0	0	0	0	0	0	0	1	2863	991	35	4		4	CCDC88A	2	55544857	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	28066669	55544857	187654516	115	49293											
USP34	9736	broad.mit.edu	37	chr2	61577527	61577527	+	Splice_Site	DEL	A	A	-													ggatgccaagtacagtgtctAaaaaaaagagggagagattt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:61577526_61577526TA>T	uc002sbe.3	-	12	1400	c.1378_splice	c.e12-1	p.T460_splice		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	460					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTACAGTGTCTAAAAAAAAGA	0.338													-	61577527	A	-	61577527	8	5	73	1	0	1	0	1	0	0	1	0	17062	377	13	0		0	USP34	2	61577527	Splice_Site	DEL	A	TCGA-BR-8360-01A-11D-2340-08	6032670	61577527	181621846	116	49294											
SERTAD2	9792	broad.mit.edu	37	chr2	64863927	64863927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaagacaccttggatggacCgtcacagggagacacgattt	12	9	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:64863927C>T	uc002sde.1	-	2	376	c.79G>A	c.(79-81)GGT>AGT	p.G27S		NM_014755	NP_055570	Q14140	SRTD2_HUMAN	SERTA domain containing 2	27					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus					0						TTGGATGGACCGTCACAGGGA	0.488													T	64863927	C	T	64863927	3	4	73	1	0	0	0	0	1	0	0	0	14121	652	23	1	869	1	SERTAD2	2	64863927	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3286400	64863927	178335446	117	49295											
TEX261	113419	broad.mit.edu	37	chr2	71216123	71216123	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcaaacggaattatccacaGgcagaaagtgaaataggcca	10	9	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:71216123G>T	uc002shn.2	-	5	511	c.397C>A	c.(397-399)CTG>ATG	p.L133M	TEX261_uc010fdy.2_Missense_Mutation_p.L86M	NM_144582	NP_653183	Q6UWH6	TX261_HUMAN	testis expressed sequence 261	133	Helical; (Potential).					integral to membrane					0						ATTATCCACAGGCAGAAAGTG	0.562													T	71216123	G	T	71216123	3	4	73	1	0	0	0	0	1	0	0	0	15779	991	35	5	201	5	TEX261	2	71216123	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	6352196	71216123	171983250	118	49296											
DYSF	8291	broad.mit.edu	37	chr2	71797446	71797446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggtccacagacctcaacCgggctgtcgatgagcaaggt	12	11	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:71797446C>T	uc002sie.2	+	28	3389	c.3013C>T	c.(3013-3015)CGG>TGG	p.R1005W	DYSF_uc010feg.2_Missense_Mutation_p.R1036W|DYSF_uc010feh.2_Missense_Mutation_p.R991W|DYSF_uc002sig.3_Missense_Mutation_p.R991W|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R1005W|DYSF_uc010fef.2_Missense_Mutation_p.R1022W|DYSF_uc010fei.2_Missense_Mutation_p.R1022W|DYSF_uc010fek.2_Missense_Mutation_p.R1023W|DYSF_uc010fej.2_Missense_Mutation_p.R992W|DYSF_uc010fel.2_Missense_Mutation_p.R992W|DYSF_uc010feo.2_Missense_Mutation_p.R1037W|DYSF_uc010fem.2_Missense_Mutation_p.R1006W|DYSF_uc010fen.2_Missense_Mutation_p.R1023W|DYSF_uc002sif.2_Missense_Mutation_p.R1006W	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1005	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						AGACCTCAACCGGGCTGTCGA	0.592													T	71797446	C	T	71797446	3	4	73	1	0	0	0	0	1	0	0	0	4859	643	23	1	3315	1	DYSF	2	71797446	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	581323	71797446	171401927	119	49297											
DYSF	8291	broad.mit.edu	37	chr2	71801367	71801367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcgagggctgggagtacGcctctctttttggctggaag	17	8	1	0	rs34660230		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:71801367G>A	uc002sie.2	+	30	3590	c.3214G>A	c.(3214-3216)GCC>ACC	p.A1072T	DYSF_uc010feg.2_Missense_Mutation_p.A1103T|DYSF_uc010feh.2_Missense_Mutation_p.A1058T|DYSF_uc002sig.3_Missense_Mutation_p.A1058T|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.A1072T|DYSF_uc010fef.2_Missense_Mutation_p.A1089T|DYSF_uc010fei.2_Missense_Mutation_p.A1089T|DYSF_uc010fek.2_Missense_Mutation_p.A1090T|DYSF_uc010fej.2_Missense_Mutation_p.A1059T|DYSF_uc010fel.2_Missense_Mutation_p.A1059T|DYSF_uc010feo.2_Missense_Mutation_p.A1104T|DYSF_uc010fem.2_Missense_Mutation_p.A1073T|DYSF_uc010fen.2_Missense_Mutation_p.A1090T|DYSF_uc002sif.2_Missense_Mutation_p.A1073T|DYSF_uc010yqy.1_5'Flank	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1072	Cytoplasmic (Potential).|Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CTGGGAGTACGCCTCTCTTTT	0.662													A	71801367	G	A	71801367	3	1	73	1	0	0	0	0	1	0	0	0	4859	1087	38	1	3524	1	DYSF	2	71801367	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	3921	71801367	171398006	120	49298											
FBXO41	150726	broad.mit.edu	37	chr2	73487661	73487661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctccaggacctgcagccGcatgcagtttctcgctagga	11	13	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:73487661G>A	uc002sjb.1	-	11	2488	c.2488C>T	c.(2488-2490)CGG>TGG	p.R830W		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	769						intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						ACCTGCAGCCGCATGCAGTTT	0.627													A	73487661	G	A	73487661	3	1	73	1	0	0	0	0	1	0	0	0	5750	1086	38	1	334	1	FBXO41	2	73487661	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1686294	73487661	169711712	121	49299											
DCTN1	1639	broad.mit.edu	37	chr2	74597439	74597439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttctggagcttcacatgCtcctgcttctctgaggaaga	10	11	3	2	rs72659373		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:74597439C>T	uc002skx.2	-	12	1472	c.1161G>A	c.(1159-1161)GAG>GAA	p.E387E	DCTN1_uc002skv.2_Silent_p.E253E|DCTN1_uc002sku.2_Silent_p.E253E|DCTN1_uc002skw.1_Silent_p.E363E|DCTN1_uc010ffd.2_Silent_p.E367E|DCTN1_uc002sky.2_Silent_p.E350E	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	387	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						GCTTCACATGCTCCTGCTTCT	0.547													T	74597439	C	T	74597439	2	4	73	1	0	0	0	0	0	0	0	1	4306	796	28	2		2	DCTN1	2	74597439	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1109778	74597439	168601934	122	49300											
CCDC142	84865	broad.mit.edu	37	chr2	74701702	74701702	+	Frame_Shift_Del	DEL	A	A	-													aggactggttcccaggcaggAaaaaaacggcaggtgccaac							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:74701701_74701701GA>G	uc002slr.3	-	8	2618	c.2225_2225TC>C	c.(2224-2226)tccfs	p.S742fs	MRPL53_uc002sln.3_5'Flank|CCDC142_uc002slo.3_Intron|CCDC142_uc002slq.3_Frame_Shift_Del_p.S735fs|CCDC142_uc002slp.2_3'UTR	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	Homo sapiens coiled-coil domain containing 142 (CCDC142), mRNA.	742										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						TCCCAGGCAGGAAAAAAACGG	0.572													-	74701702	A	-	74701702	7	5	73	1	0	1	0	1	0	0	0	0	2776	246	9	0	32	0	CCDC142	2	74701702	Frame_Shift_Del	DEL	A	TCGA-BR-8360-01A-11D-2340-08	104263	74701702	168497671	123	49301											
KCMF1	56888	broad.mit.edu	37	chr2	85280302	85280302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaaatgtctgaaacggagCgccagtccatggaaagcgag	12	9	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:85280302C>T	uc002sox.3	+	7	1260	c.916C>T	c.(916-918)CGC>TGC	p.R306C		NM_020122	NP_064507	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	306						intracellular	ligase activity|zinc ion binding			ovary(2)	2						TGAAACGGAGCGCCAGTCCAT	0.448													T	85280302	C	T	85280302	3	4	73	1	0	0	0	0	1	0	0	0	8000	768	27	1	942	1	KCMF1	2	85280302	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	10578600	85280302	157919071	124	49302											
C2orf51	200523	broad.mit.edu	37	chr2	88828731	88828731	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatcacaggaacatgaggcCacgagggaggacgagcgcaa	14	11	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:88828731C>A	uc002stb.1	+	4	424	c.282C>A	c.(280-282)GCC>GCA	p.A94A		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	chromosome 2 open reading frame 51	94						nucleus				skin(1)	1						AACATGAGGCCACGAGGGAGG	0.582													A	88828731	C	A	88828731	2	1	73	1	0	0	0	0	0	0	0	1	2173	581	21	5		5	C2orf51	2	88828731	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3548429	88828731	154370642	125	49303											
EIF2AK3	9451	broad.mit.edu	37	chr2	88885399	88885399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcctgcgcacaataaacGttgttgctatgatacaaaac	7	9	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:88885399G>A	uc002stc.3	-	9	1812	c.1610C>T	c.(1609-1611)ACG>ATG	p.T537M		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	537	Cytoplasmic (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						CACAATAAACGTTGTTGCTAT	0.333													A	88885399	G	A	88885399	3	1	73	1	0	0	0	0	1	0	0	0	4998	1145	40	1	1776	1	EIF2AK3	2	88885399	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	56668	88885399	154313974	126	49304											
ASTL	431705	broad.mit.edu	37	chr2	96789817	96789817	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccttgccgaggcctcTgcactgagctttttcagggc	13	13	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:96789817T>G	uc010yui.1	-	9	1068	c.1068A>C	c.(1066-1068)GCA>GCC	p.A356A		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	356					proteolysis		metalloendopeptidase activity|zinc ion binding				0						CCGAGGCCTCTGCACTGAGCT	0.672													G	96789817	T	G	96789817	2	3	73	1	0	0	0	0	0	0	0	1	1063	1567	55	5		5	ASTL	2	96789817	Silent	SNP	T	TCGA-BR-8360-01A-11D-2340-08	7904418	96789817	146409556	127	49305											
CHST10	9486	broad.mit.edu	37	chr2	101023061	101023061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtctttaaaggtcaacGtgatgaacttgctagccacc	10	10	2	2	rs148953500		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:101023061G>A	uc002tam.2	-	3	436	c.77C>T	c.(76-78)ACG>ATG	p.T26M		NM_004854	NP_004845	O43529	CHSTA_HUMAN	HNK-1 sulfotransferase	26	Helical; Signal-anchor for type II membrane protein; (Potential).				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				ovary(1)	1						AAAGGTCAACGTGATGAACTT	0.473													A	101023061	G	A	101023061	3	1	73	1	0	0	0	0	1	0	0	0	3398	1145	40	1	1013	1	CHST10	2	101023061	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	4233244	101023061	142176312	128	49306											
NPAS2	4862	broad.mit.edu	37	chr2	101606806	101606806	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgttcagcagcgccacagCtgcgctcccgccaagtctga	10	18	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:101606806C>A	uc002tap.1	+	18	2202	c.1916C>A	c.(1915-1917)GCT>GAT	p.A639D	NPAS2_uc010yvt.1_Missense_Mutation_p.A704D|NPAS2_uc010fit.1_Intron	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	639					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4						AGCGCCACAGCTGCGCTCCCG	0.612													A	101606806	C	A	101606806	3	1	73	1	0	0	0	0	1	0	0	0	10563	797	28	5	1982	5	NPAS2	2	101606806	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	583745	101606806	141592567	129	49307											
GPR45	11250	broad.mit.edu	37	chr2	105858503	105858503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatcgtgtaccagaggcCggctatgcgctcggccatca	11	14	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:105858503C>T	uc002tco.1	+	1	304	c.188C>T	c.(187-189)CCG>CTG	p.P63L		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	63	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						TACCAGAGGCCGGCTATGCGC	0.622													T	105858503	C	T	105858503	3	4	73	1	0	0	0	0	1	0	0	0	6696	652	23	1	190	1	GPR45	2	105858503	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	4251697	105858503	137340870	130	49308											
EDAR	10913	broad.mit.edu	37	chr2	109545660	109545664	+	Frame_Shift_Del	DEL	AGGCA	AGGCA	-													gggcctgtgcttacccagggAggcaagggccacactcagcg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:109545659_109545663GAGGCA>G	uc010fjn.3	-	4	894_898	c.347_351TGCCTC>C	c.(346-351)tgcctcfs	p.C116fs	EDAR_uc010yws.2_Frame_Shift_Del_p.C116fs|EDAR_uc002teq.4_Frame_Shift_Del_p.C116fs	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	116					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	p.C116Y(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTTACCCAGGGAGGCAAGGGCCACA	0.6													-	109545664	AGGCA	-	109545660	7	5	73	1	0	1	0	1	0	0	0	0	4905	304	11	0	1032	0	EDAR	2	109545660	Frame_Shift_Del	DEL	AGGCA	TCGA-BR-8360-01A-11D-2340-08	3687157	109545660	133653713	131	49309											
ANAPC1	64682	broad.mit.edu	37	chr2	112614258	112614259	+	Splice_Site	INS	-	-	T													cagcatggtgtctattttctINSaaaaaaacaaaaaagacaaa					rs4067742		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:112614257_112614258C>CT	uc002thi.3	-	13	1697	c.1450_splice	c.e13-1	p.K484_splice		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	484					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGTCTATTTTCTAAAAAAACAA	0.361													T	112614259	-	T	112614258	8	5	73	1	0	1	1	0	0	0	1	0	598	1536	53	0	4530	0	ANAPC1	2	112614258	Splice_Site	INS	-	TCGA-BR-8360-01A-11D-2340-08	3068598	112614258	130585115	132	49310											
CKAP2L	150468	broad.mit.edu	37	chr2	113514492	113514492	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccttgatctgttaactgCtgctttgtagttttcaattg	7	7	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:113514492C>T	uc002tie.2	-	4	535	c.456G>A	c.(454-456)CAG>CAA	p.Q152Q	CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_5'UTR	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	152						centrosome					0						CTGTTAACTGCTGCTTTGTAG	0.348													T	113514492	C	T	113514492	2	4	73	1	0	0	0	0	0	0	0	1	3443	796	28	2		2	CKAP2L	2	113514492	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	900234	113514492	129684881	133	49311											
INSIG2	51141	broad.mit.edu	37	chr2	118864334	118864334	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtggatttcgataacaacAtacagttgtctctcacactg	7	9	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:118864334A>G	uc002tlk.2	+	4	597	c.391A>G	c.(391-393)ATA>GTA	p.I131V	INSIG2_uc010yye.1_Missense_Mutation_p.I23V|INSIG2_uc002tll.2_Missense_Mutation_p.I23V	NM_016133	NP_057217	Q9Y5U4	INSI2_HUMAN	insulin induced protein 2	131	Helical; (Potential).				ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				ovary(1)|central_nervous_system(1)	2						CGATAACAACATACAGTTGTC	0.373													G	118864334	A	G	118864334	3	3	73	1	0	0	0	0	1	0	0	0	7766	217	8	3	401	3	INSIG2	2	118864334	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	5349842	118864334	124335039	134	49312											
STEAP3	55240	broad.mit.edu	37	chr2	120005667	120005667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccactggctacagcaccGcaagcagatcgggctgctca	12	14	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:120005667G>A	uc002tlp.2	+	4	1062	c.905G>A	c.(904-906)CGC>CAC	p.R302H	STEAP3_uc002tlq.2_Missense_Mutation_p.R312H|STEAP3_uc002tlr.2_Missense_Mutation_p.R302H|STEAP3_uc010fle.2_Missense_Mutation_p.R302H	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	302	Ferric oxidoreductase.|Cytoplasmic (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			central_nervous_system(2)|skin(1)	3						CTACAGCACCGCAAGCAGATC	0.687													A	120005667	G	A	120005667	3	1	73	1	0	0	0	0	1	0	0	0	15278	1087	38	1	945	1	STEAP3	2	120005667	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1141333	120005667	123193706	135	49313											
GLI2	2736	broad.mit.edu	37	chr2	121684992	121684992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccgattgacatgcgacaCcaggaaggaaggtaccatta	10	10	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:121684992C>T	uc010flp.2	+	2	234	c.204C>T	c.(202-204)CAC>CAT	p.H68H	GLI2_uc010yyu.1_Silent_p.H68H|GLI2_uc002tmp.1_Silent_p.H68H|GLI2_uc010fln.1_RNA|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Silent_p.H68H|GLI2_uc010flo.1_Intron|GLI2_uc002tmw.1_Silent_p.H68H	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	68					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				ACATGCGACACCAGGAAGGAA	0.572													T	121684992	C	T	121684992	2	4	73	1	0	0	0	0	0	0	0	1	6438	506	18	4		4	GLI2	2	121684992	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1679325	121684992	121514381	136	49314											
IWS1	55677	broad.mit.edu	37	chr2	128238676	128238676	+	Frame_Shift_Del	DEL	T	T	-													cactgcgtgtgcagatctgcTttttttccttatatctgtga							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:128238676delT	uc002ton.2	-	14	2707	c.2404delA	c.(2404-2406)AGCfs	p.S802fs		NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	802					transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GCAGATCTGCTTTTTTTCCTT	0.423													-	128238676	T	-	128238676	7	5	73	1	0	1	0	1	0	0	0	0	7931	1609	56	0	59	0	IWS1	2	128238676	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	6553684	128238676	114960697	137	49315											
IWS1	55677	broad.mit.edu	37	chr2	128252502	128252502	+	Frame_Shift_Del	DEL	T	T	-													ttaattttttcagtgctggcTttttttgattgttcaactgt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:128252501_128252501CT>C	uc002ton.2	-	7	2049	c.1746_1746AG>G	c.(1744-1746)aagfs	p.K582fs	IWS1_uc010yzl.1_Non-coding_Transcript	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	582					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCAGTGCTGGCTTTTTTTGAT	0.264													-	128252502	T	-	128252502	7	5	73	1	0	1	0	1	0	0	0	0	7931	1609	56	0	742	0	IWS1	2	128252502	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	13826	128252502	114946871	138	49316											
IWS1	55677	broad.mit.edu	37	chr2	128262790	128262790	+	Frame_Shift_Del	DEL	G	G	-													agtcactggcctggtgccttGggggttcctcactttctgaa							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:128262789_128262789TG>T	uc002ton.2	-	2	993	c.690_690CA>A	c.(688-690)ccafs	p.P230fs	IWS1_uc010yzl.1_Non-coding_Transcript|IWS1_uc010fma.2_Non-coding_Transcript	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	230	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding	p.P230fs*160(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CCTGGTGCCTTGGGGGTTCCT	0.522													-	128262790	G	-	128262790	7	5	73	1	0	1	0	1	0	0	0	0	7931	1348	47	0	1818	0	IWS1	2	128262790	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	10288	128262790	114936583	139	49317											
TUBA3E	112714	broad.mit.edu	37	chr2	130951495	130951495	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtacttgccatggcgaGggtcacacttgaccatctga	10	12	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:130951495G>T	uc002tqv.2	-	4	1021	c.920C>A	c.(919-921)CCT>CAT	p.P307H		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	307					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1	Colorectal(110;0.1)					GCCATGGCGAGGGTCACACTT	0.582													T	130951495	G	T	130951495	3	4	73	1	0	0	0	0	1	0	0	0	16745	1000	35	5	440	5	TUBA3E	2	130951495	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2688705	130951495	112247878	140	49318											
FAM123C	205147	broad.mit.edu	37	chr2	131520225	131520225	+	Frame_Shift_Del	DEL	G	G	-													caggggacccgtcagaccctGgggggcggcgaagcaaagcc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:131520224_131520224TG>T	uc021voy.1	+	0	579	c.579_579TG>T	c.(577-579)cctfs	p.P193fs	FAM123C_uc002trw.2_Frame_Shift_Del_p.P193fs|FAM123C_uc010fmv.2_Frame_Shift_Del_p.P193fs|FAM123C_uc010fms.1_Frame_Shift_Del_p.P193fs|FAM123C_uc010fmt.1_Frame_Shift_Del_p.P193fs|FAM123C_uc010fmu.1_Frame_Shift_Del_p.P193fs	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	193										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CGTCAGACCCTGGGGGGCGGC	0.667													-	131520225	G	-	131520225	7	5	73	1	0	1	0	1	0	0	0	0	5424	1348	47	0	582	0	FAM123C	2	131520225	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	568730	131520225	111679148	141	49319											
POTEE	445582	broad.mit.edu	37	chr2	132021451	132021451	+	Frame_Shift_Del	DEL	C	C	-													ccccatcctgctgaccgaggCccccctgaaccccaaggcca							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:132021450_132021450GC>G	uc002tsn.2	+	14	2474	c.2422_2422GC>G	c.(2422-2424)gccfs	p.A808fs	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Frame_Shift_Del_p.A408fs|POTEE_uc002tsl.2_Frame_Shift_Del_p.A390fs|POTEE_uc010fmy.1_Frame_Shift_Del_p.A272fs	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	808	Actin-like.						ATP binding										GCTGACCGAGGCCCCCCTGAA	0.597													-	132021451	C	-	132021451	7	5	73	1	0	1	0	1	0	0	0	0	12264	739	26	0	2481	0	POTEE	2	132021451	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	501226	132021451	111177922	142	49320											
GPR39	2863	broad.mit.edu	37	chr2	133402811	133402811	+	Frame_Shift_Del	DEL	T	T	-													tcctccccttctcggagacgTttttctacctcagctcggtc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:133402810_133402810GT>G	uc002ttl.3	+	1	1462	c.993_993GT>G	c.(991-993)acgfs	p.T331fs	LYPD1_uc002ttm.4_3'UTR|LYPD1_uc002ttn.3_3'UTR|LYPD1_uc002tto.3_3'UTR	NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	331						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTCGGAGACGTTTTTCTACC	0.607													-	133402811	T	-	133402811	7	5	73	1	0	1	0	1	0	0	0	0	6693	1725	60	0	1000	0	GPR39	2	133402811	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	1381360	133402811	109796562	143	49321											
MGAT5	4249	broad.mit.edu	37	chr2	135028124	135028124	+	Splice_Site	DEL	A	A	-													agaaaattaatgtggcaggtAaaaatagcaattctctgccc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:135028123_135028123TA>T	uc002ttw.4	+	2	551	c.406_splice	c.e2+2	p.D136_splice		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.	136					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		ATGTGGCAGGTAAAAATAGCA	0.443													-	135028124	A	-	135028124	8	5	73	1	0	1	0	1	0	0	1	0	9548	377	13	0		0	MGAT5	2	135028124	Splice_Site	DEL	A	TCGA-BR-8360-01A-11D-2340-08	1625313	135028124	108171249	144	49322											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135848572	135848572	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttattggtacatatagggtaTatttacttctggcacatggg	10	5	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:135848572T>C	uc002tuj.2	+	4	180	c.155T>C	c.(154-156)ATA>ACA	p.I52T	RAB3GAP1_uc010fnf.2_Missense_Mutation_p.I52T|RAB3GAP1_uc010fng.2_5'UTR|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	52						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)		ATATAGGGTATATTTACTTCT	0.343													C	135848572	T	C	135848572	3	2	73	1	0	0	0	0	1	0	0	0	12935	1406	49	3	169	3	RAB3GAP1	2	135848572	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	820448	135848572	107350801	145	49323											
ZRANB3	84083	broad.mit.edu	37	chr2	135988401	135988401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactacagtattttcctcccGgaatctctttgattcgtcac	5	13	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:135988401G>A	uc002tum.2	-	13	1753	c.1636C>T	c.(1636-1638)CGG>TGG	p.R546W	ZRANB3_uc002tuk.2_Missense_Mutation_p.R89W|ZRANB3_uc002tul.2_Missense_Mutation_p.R546W	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	546						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)		TTTTCCTCCCGGAATCTCTTT	0.368													A	135988401	G	A	135988401	3	1	73	1	0	0	0	0	1	0	0	0	18221	1115	39	1	1639	1	ZRANB3	2	135988401	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	139829	135988401	107210972	146	49324											
THSD7B	80731	broad.mit.edu	37	chr2	137988713	137988713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtgctgagcgagtggaCggagtggtcatcctgttccc	15	10	1	1	rs61741154		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:137988713C>T	uc002tva.1	+	7	1730	c.1730C>T	c.(1729-1731)ACG>ATG	p.T577M	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.T467M	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGCGAGTGGACGGAGTGGTCA	0.517													T	137988713	C	T	137988713	3	4	73	1	0	0	0	0	1	0	0	0	15877	536	19	1	1756	1	THSD7B	2	137988713	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2000312	137988713	105210660	147	49325											
HNMT	3176	broad.mit.edu	37	chr2	138758556	138758558	+	In_Frame_Del	DEL	GTT	GTT	-													gagtttgtatcaacaatgaaGttgttgagccaagtgctgaa							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:138758556_138758558delGTT	uc002tvc.2	+	4	407_409	c.259_261delGTT	c.(259-261)GTTdel	p.V88del	HNMT_uc002tvf.2_In_Frame_Del_p.V88del	NM_006895	NP_008826	P50135	HNMT_HUMAN	histamine N-methyltransferase isoform 1	88					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	CAACAATGAAGTTGTTGAGCCAA	0.399													-	138758558	GTT	-	138758556	7	5	73	1	0	1	0	1	0	0	0	0	7255	1029	36	0	487	0	HNMT	2	138758556	In_Frame_Del	DEL	GTT	TCGA-BR-8360-01A-11D-2340-08	769843	138758556	104440817	148	49326											
LRP1B	53353	broad.mit.edu	37	chr2	141607887	141607887	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acgtcttgcataaagaagaaAttttttcatttctaaaaaag	5	5	3	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:141607887A>T	uc002tvj.1	-	29	5695	c.4723T>A	c.(4723-4725)TTT>ATT	p.F1575I	LRP1B_uc010fnl.1_Missense_Mutation_p.F757I	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1575	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAAAGAAGAAATTTTTTCATT	0.303										TSP Lung(27;0.18)			T	141607887	A	T	141607887	3	4	73	1	0	0	0	0	1	0	0	0	8955	101	4	5	9328	5	LRP1B	2	141607887	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	2849331	141607887	101591486	149	49327											
MBD5	55777	broad.mit.edu	37	chr2	149227818	149227818	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgcaaacactaactttgTtcacagtaacagtccagtcc	5	12	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:149227818T>C	uc002twm.3	+	9	3294	c.2306T>C	c.(2305-2307)GTT>GCT	p.V769A	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.V769A|MBD5_uc002twn.1_Missense_Mutation_p.V210A	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	769						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ACTAACTTTGTTCACAGTAAC	0.473													C	149227818	T	C	149227818	3	2	73	1	0	0	0	0	1	0	0	0	9347	1725	60	3	2320	3	MBD5	2	149227818	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	7619931	149227818	93971555	150	49328											
NEB	4703	broad.mit.edu	37	chr2	152347012	152347012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagatcgtgactgctcccGgctccggcgctgagcttgga	15	13	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:152347012G>A	uc010fnx.2	-	147	19794	c.19603C>T	c.(19603-19605)CGG>TGG	p.R6535W	NEB_uc002txr.2_Missense_Mutation_p.R2865W|RIF1_uc002txp.2_Intron|NEB_uc010zbz.1_Missense_Mutation_p.R304W|NEB_uc002txq.2_Missense_Mutation_p.R414W|NEB_uc010zca.1_Missense_Mutation_p.R366W|NEB_uc010zcb.1_Missense_Mutation_p.R304W	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	6535	Interaction with SVIL.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GACTGCTCCCGGCTCCGGCGC	0.463													A	152347012	G	A	152347012	3	1	73	1	0	0	0	0	1	0	0	0	10302	1115	39	1	418	1	NEB	2	152347012	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	3119194	152347012	90852361	151	49329											
BAZ2B	29994	broad.mit.edu	37	chr2	160335159	160335161	+	In_Frame_Del	DEL	AGA	AGA	-													tttgaaactactgaagccacAgaaggtgtcgaagatgaagt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:160335159_160335161delAGA	uc002uao.2	-	3	422_424	c.70_72delTCT	c.(70-72)TCTdel	p.S24del	BAZ2B_uc002uap.2_In_Frame_Del_p.S24del|BAZ2B_uc002uas.1_In_Frame_Del_p.S24del|BAZ2B_uc002uau.1_In_Frame_Del_p.S24del|BAZ2B_uc002uat.3_In_Frame_Del_p.S24del|BAZ2B_uc010fop.1_In_Frame_Del_p.S24del	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						CTGAAGCCACAGAAGGTGTCGAA	0.429													-	160335161	AGA	-	160335159	7	5	73	1	0	1	0	1	0	0	0	0	1332	175	7	0	6574	0	BAZ2B	2	160335159	In_Frame_Del	DEL	AGA	TCGA-BR-8360-01A-11D-2340-08	7988147	160335159	82864214	152	49330											
KCNH7	90134	broad.mit.edu	37	chr2	163292018	163292018	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagcattagaacagcagcGccatattctgaatatcgatc	8	9	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:163292018G>A	uc002uch.1	-	8	1856	c.1644C>T	c.(1642-1644)GGC>GGT	p.G548G	KCNH7_uc002uci.2_Silent_p.G541G	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	548	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	GAACAGCAGCGCCATATTCTG	0.463													A	163292018	G	A	163292018	2	1	73	1	0	0	0	0	0	0	0	1	8037	1074	38	1		1	KCNH7	2	163292018	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2956859	163292018	79907355	153	49331											
SCN2A	6326	broad.mit.edu	37	chr2	166245809	166245809	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggatcctcctcttctcatAgcaaaacccaacaaagtcca	4	15	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:166245809A>T	uc002udc.2	+	27	5783	c.5493A>T	c.(5491-5493)ATA>ATT	p.I1831I	SCN2A_uc002udd.2_Silent_p.I1831I|SCN2A_uc002ude.2_Silent_p.I1831I	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1831					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	CTCTTCTCATAGCAAAACCCA	0.463													T	166245809	A	T	166245809	2	4	73	1	0	0	0	0	0	0	0	1	13916	410	15	5		5	SCN2A	2	166245809	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	2953791	166245809	76953564	154	49332											
SCN9A	6335	broad.mit.edu	37	chr2	167055493	167055493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacacatcctcttgtttccGttttagtgtggttgtgatgg	11	7	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:167055493G>A	uc010fpl.2	-	27	5964	c.5623C>T	c.(5623-5625)CGG>TGG	p.R1875W	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1886						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCTTGTTTCCGTTTTAGTGTG	0.403													A	167055493	G	A	167055493	3	1	73	1	0	0	0	0	1	0	0	0	13925	1144	40	1	314	1	SCN9A	2	167055493	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	809684	167055493	76143880	155	49333											
XIRP2	129446	broad.mit.edu	37	chr2	168099958	168099958	+	Frame_Shift_Del	DEL	G	G	-													ctatcagtaaggacataactGggggggatgtcaagactgtg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:168099957_168099957TG>T	uc002udx.3	+	8	2144	c.2055_2055TG>T	c.(2053-2055)actfs	p.T685fs	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Frame_Shift_Del_p.T510fs|XIRP2_uc010fpq.3_Frame_Shift_Del_p.T463fs|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	510					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATG	0.418													-	168099958	G	-	168099958	7	5	73	1	0	1	0	1	0	0	0	0	17427	1348	47	0	2086	0	XIRP2	2	168099958	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	1044465	168099958	75099415	156	49334											
XIRP2	129446	broad.mit.edu	37	chr2	168103737	168103738	+	Frame_Shift_Ins	INS	-	-	A													tacataaagaaggtgtaataINSaaaaaagatgctaaagctgt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:168103736_168103737T>TA	uc002udx.3	+	8	5923_5924	c.5834_5835T>TA	c.(5833-5835)atafs	p.I1945fs	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Frame_Shift_Ins_p.I1770fs|XIRP2_uc010fpq.3_Frame_Shift_Ins_p.I1723fs|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1770					actin cytoskeleton organization	cell junction	actin binding	p.V1944I(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAGGTGTAATAAAAAAAGATG	0.391													A	168103738	-	A	168103737	7	5	73	1	0	1	1	0	0	0	0	0	17427	352	13	0	5865	0	XIRP2	2	168103737	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	3779	168103737	75095636	157	49335											
XIRP2	129446	broad.mit.edu	37	chr2	168106617	168106617	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaagtcaagggcatacaAgagaaacaagtcttctctaa	8	9	3	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:168106617A>C	uc002udx.2	+	8	8733	c.8715A>C	c.(8713-8715)CAA>CAC	p.Q2905H	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.Q2730H|XIRP2_uc010fpq.2_Missense_Mutation_p.Q2683H|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.Q251H	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2730					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AGGGCATACAAGAGAAACAAG	0.383													C	168106617	A	C	168106617	3	2	73	1	0	0	0	0	1	0	0	0	17427	69	3	5	8745	5	XIRP2	2	168106617	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	2880	168106617	75092756	158	49336											
LRP2	4036	broad.mit.edu	37	chr2	170058203	170058203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccattgcagataaactcaCgaggtatgcaccttctgtta	7	11	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:170058203C>T	uc002ues.2	-	44	8600	c.8387G>A	c.(8386-8388)CGT>CAT	p.R2796H		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2796	LDL-receptor class A 18.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GATAAACTCACGAGGTATGCA	0.433													T	170058203	C	T	170058203	3	4	73	1	0	0	0	0	1	0	0	0	8956	536	19	1	5724	1	LRP2	2	170058203	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1951586	170058203	73141170	159	49337											
HOXD8	3234	broad.mit.edu	37	chr2	176995424	176995424	+	Frame_Shift_Del	DEL	T	T	-													gcctaccaggccgcccccccTcctcctccgcatcctccgcc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:176995423_176995423CT>C	uc002uko.3	+	0	956	c.329_329CT>C	c.(328-330)cctfs	p.P110fs	AX747372_uc002ukl.1_5'Flank|AX747372_uc002ukm.1_5'Flank|HOXD8_uc002ukn.3_Intron|HOXD8_uc002ukp.3_Frame_Shift_Del_p.P110fs	NM_019558	NP_062458	P13378	HXD8_HUMAN	Homo sapiens homeobox D8 (HOXD8), transcript variant 1, mRNA.	110	Poly-Pro.				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCCGccccccctcctcctccg	0.726													-	176995424	T	-	176995424	7	5	73	1	0	1	0	1	0	0	0	0	7325	1538	54	0	332	0	HOXD8	2	176995424	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	6937221	176995424	66203949	160	49338											
TTN	7273	broad.mit.edu	37	chr2	179648873	179648873	+	Frame_Shift_Del	DEL	T	T	-													tgatgctcacccctacttccTttttcacctcaacgccagct							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:179648872_179648872CT>C	uc021vsy.1	-	15	2925	c.2700_2700AG>G	c.(2698-2700)aagfs	p.K900fs	TTN_uc021vsz.1_Frame_Shift_Del_p.K854fs|TTN_uc021vta.1_Frame_Shift_Del_p.K854fs|TTN_uc021vtb.1_Frame_Shift_Del_p.K854fs|TTN_uc002unb.2_Frame_Shift_Del_p.K900fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	900							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCCTACTTCCTTTTTCACCT	0.547													-	179648873	T	-	179648873	7	5	73	1	0	1	0	1	0	0	0	0	16732	1609	56	0	108677	0	TTN	2	179648873	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	2653449	179648873	63550500	161	49339											
CCDC150	284992	broad.mit.edu	37	chr2	197511222	197511222	+	Frame_Shift_Del	DEL	A	A	-													aataatgttggattttggtgAaaaaaggtaacaaaaatgaa					rs34248242		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:197511221_197511221GA>G	uc002utp.1	+	1	304	c.169_169GA>G	c.(169-171)gaafs	p.E57fs	CCDC150_uc002uto.1_Frame_Shift_Del_p.E57fs|CCDC150_uc010zgq.1_Intron|CCDC150_uc010zgr.1_Non-coding_Transcript|CCDC150_uc010zgs.1_5'UTR	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	57										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGATTTTGGTGAAAAAAGGTA	0.373													-	197511222	A	-	197511222	7	5	73	1	0	1	0	1	0	0	0	0	2785	246	9	0	176	0	CCDC150	2	197511222	Frame_Shift_Del	DEL	A	TCGA-BR-8360-01A-11D-2340-08	17862349	197511222	45688151	162	49340											
SATB2	23314	broad.mit.edu	37	chr2	200137257	200137257	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aataaagctttggaggatccCcagggcttctaaggagatct	11	8	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:200137257C>A	uc002uuy.1	-	11	2696	c.1879G>T	c.(1879-1881)GGG>TGG	p.G627W	SATB2_uc010fsq.1_Missense_Mutation_p.G509W|SATB2_uc002uuz.1_Missense_Mutation_p.G627W|SATB2_uc002uva.1_Missense_Mutation_p.G627W	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	627	Homeobox.					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						TGGAGGATCCCCAGGGCTTCT	0.547													A	200137257	C	A	200137257	3	1	73	1	0	0	0	0	1	0	0	0	13854	623	22	5	326	5	SATB2	2	200137257	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2626035	200137257	43062116	163	49341											
AOX1	316	broad.mit.edu	37	chr2	201473845	201473845	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aactctggctgggtcccagaTcaggaacatggctgtatgta	12	9	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:201473845T>A	uc002uvx.2	+	11	1147	c.1046T>A	c.(1045-1047)ATC>AAC	p.I349N	AOX1_uc010zhf.1_5'Flank|AOX1_uc010fsu.2_5'Flank	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	349	FAD-binding PCMH-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GGGTCCCAGATCAGGAACATG	0.458													A	201473845	T	A	201473845	3	1	73	1	0	0	0	0	1	0	0	0	729	1435	50	5	1088	5	AOX1	2	201473845	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	1336588	201473845	41725528	164	49342											
ALS2	57679	broad.mit.edu	37	chr2	202626188	202626188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgagacccaactgacaacCggtaccccatgcccaaatct	6	15	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:202626188C>T	uc002uyo.2	-	4	885	c.529G>A	c.(529-531)GGT>AGT	p.G177S	ALS2_uc002uyp.3_Missense_Mutation_p.G177S|ALS2_uc002uyq.2_Missense_Mutation_p.G177S|ALS2_uc002uyr.2_Missense_Mutation_p.G177S	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	177	RCC1 3.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7						AACTGACAACCGGTACCCCAT	0.532													T	202626188	C	T	202626188	3	4	73	1	0	0	0	0	1	0	0	0	550	652	23	1	4646	1	ALS2	2	202626188	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1152343	202626188	40573185	165	49343											
PARD3B	117583	broad.mit.edu	37	chr2	205829969	205829969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcccagatgcttttgagaCagaagtggccgcccaactgg	13	11	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:205829969C>T	uc002var.1	+	3	524	c.317C>T	c.(316-318)ACA>ATA	p.T106I	PARD3B_uc010fub.1_Missense_Mutation_p.T106I|PARD3B_uc002vao.1_Missense_Mutation_p.T106I|PARD3B_uc002vap.1_Missense_Mutation_p.T106I|PARD3B_uc002vaq.1_Missense_Mutation_p.T106I	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	106					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GCTTTTGAGACAGAAGTGGCC	0.468													T	205829969	C	T	205829969	3	4	73	1	0	0	0	0	1	0	0	0	11444	478	17	4	327	4	PARD3B	2	205829969	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3203781	205829969	37369404	166	49344											
PARD3B	117583	broad.mit.edu	37	chr2	206023539	206023539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcaggttctgctggcctcGgggtgagcttaaaagggaac	14	8	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:206023539G>A	uc002var.1	+	11	1735	c.1528G>A	c.(1528-1530)GGG>AGG	p.G510R	PARD3B_uc010fub.1_Missense_Mutation_p.G510R|PARD3B_uc002vao.1_Missense_Mutation_p.G510R|PARD3B_uc002vap.1_Intron|PARD3B_uc002vaq.1_Missense_Mutation_p.G510R	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	510	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TGCTGGCCTCGGGGTGAGCTT	0.488													A	206023539	G	A	206023539	3	1	73	1	0	0	0	0	1	0	0	0	11444	1116	39	1	1570	1	PARD3B	2	206023539	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	193570	206023539	37175834	167	49345											
CRYGD	1421	broad.mit.edu	37	chr2	209025577	209025577	+	Frame_Shift_Del	DEL	C	C	-													agccgactttggcatctgcaCccccccagtcgtggtacctt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:209025576_209025576AC>A	uc002vcq.4	-	2	494	c.477_477GT>T	c.(475-477)ggtfs	p.G159fs	CRYGD_uc021vvu.1_Intron	NM_014617	NP_055432	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma A (CRYGA), mRNA.	159	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TGGCATCTGCACCCCCCCAGT	0.527													-	209025577	C	-	209025577	7	5	73	1	0	1	0	1	0	0	0	0	3917	507	18	0		0	CRYGD	2	209025577	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	3002038	209025577	34173796	168	49346											
RPE	6120	broad.mit.edu	37	chr2	210880764	210880764	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtagcaggagccaatcaGtacacctttcatctcgaggc	10	12	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:210880764G>A	uc002vdn.2	+	3	275	c.270G>A	c.(268-270)CAG>CAA	p.Q90Q	RPE_uc002vdm.2_Silent_p.Q90Q|RPE_uc002vdo.2_Silent_p.Q22Q|RPE_uc010zjf.1_Silent_p.Q90Q|RPE_uc002vdp.2_Silent_p.Q19Q|RPE_uc010fup.2_Silent_p.Q22Q|RPE_uc002vdq.2_Silent_p.Q22Q|RPE_uc002vdr.2_Silent_p.Q22Q	NM_199229	NP_954699	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase isoform 1	90					pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity				0				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		GAGCCAATCAGTACACCTTTC	0.438													A	210880764	G	A	210880764	2	1	73	1	0	0	0	0	0	0	0	1	13544	1020	36	4		4	RPE	2	210880764	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1855187	210880764	32318609	169	49347											
SMARCAL1	50485	broad.mit.edu	37	chr2	217279576	217279576	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcaacccattccaggccaAgcaaggcccatcccaaaatt	7	15	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:217279576A>G	uc002vgc.3	+	3	479	c.149A>G	c.(148-150)AAG>AGG	p.K50R	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.K50R|SMARCAL1_uc010fvg.2_Missense_Mutation_p.K50R	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	50					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TTCCAGGCCAAGCAAGGCCCA	0.517									Schimke_Immuno-Osseous_Dysplasia				G	217279576	A	G	217279576	3	3	73	1	0	0	0	0	1	0	0	0	14773	72	3	3	151	3	SMARCAL1	2	217279576	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	6398812	217279576	25919797	170	49348											
RNF25	64320	broad.mit.edu	37	chr2	219529010	219529010	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctttgggtgcctccgttcGggctgtcgccagggacctcg	14	15	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:219529010G>A	uc002vit.2	-	10	1138	c.1050C>T	c.(1048-1050)CCC>CCT	p.P350P	RNF25_uc010fvw.2_Silent_p.P238P	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	350					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCTCCGTTCGGGCTGTCGCC	0.617													A	219529010	G	A	219529010	2	1	73	1	0	0	0	0	0	0	0	1	13485	1103	39	1		1	RNF25	2	219529010	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2249434	219529010	23670363	171	49349											
CRYBA2	1412	broad.mit.edu	37	chr2	219855029	219855029	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtgggcctgtgtgccgAgctcaccgtaagtacagaac	13	11	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:219855029A>C	uc002vjj.1	-	5	574	c.539T>G	c.(538-540)CTC>CGC	p.L180R	CRYBA2_uc002vjk.1_Missense_Mutation_p.L180R	NM_057094	NP_476435	P53672	CRBA2_HUMAN	crystallin, beta A2	180	Beta/gamma crystallin 'Greek key' 4.						structural constituent of eye lens				0		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGTGTGCCGAGCTCACCGTA	0.612													C	219855029	A	C	219855029	3	2	73	1	0	0	0	0	1	0	0	0	3908	304	11	5	58	5	CRYBA2	2	219855029	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	326019	219855029	23344344	172	49350											
ABCB6	10058	broad.mit.edu	37	chr2	220081103	220081103	+	Frame_Shift_Del	DEL	C	C	-													tacctgtactgccagtgccaCccccctggaggaacttgagg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:220081102_220081102AC>A	uc002vkc.2	-	3	2733	c.954_954GT>T	c.(952-954)ggtfs	p.G318fs	ABCB6_uc010fwe.2_Frame_Shift_Del_p.G272fs|ABCB6_uc010zku.1_Non-coding_Transcript	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA.	318	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	p.G318fs*9(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCCAGTGCCACCCCCCTGGA	0.567													-	220081103	C	-	220081103	7	5	73	1	0	1	0	1	0	0	0	0	45	507	18	0	1639	0	ABCB6	2	220081103	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	226074	220081103	23118270	173	49351											
SPEG	10290	broad.mit.edu	37	chr2	220332024	220332024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggtggattggctgtgcCgtggccgcctgctgcagcct	17	11	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:220332024C>T	uc010fwg.2	+	10	3010	c.3010C>T	c.(3010-3012)CGT>TGT	p.R1004C		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1004	Ig-like 4.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TTGGCTGTGCCGTGGCCGCCT	0.627													T	220332024	C	T	220332024	3	4	73	1	0	0	0	0	1	0	0	0	15035	652	23	1	3060	1	SPEG	2	220332024	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	250921	220332024	22867349	174	49352											
FAM124B	79843	broad.mit.edu	37	chr2	225266179	225266179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtagggacacagccttccccGagtgtcctgggtggggtagc	16	11	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:225266179G>A	uc002vnx.2	-	1	533	c.307C>T	c.(307-309)CGG>TGG	p.R103W	FAM124B_uc002vnw.2_Missense_Mutation_p.R103W	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	hypothetical protein LOC79843 isoform a	103							protein binding			ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		AGCCTTCCCCGAGTGTCCTGG	0.592													A	225266179	G	A	225266179	3	1	73	1	0	0	0	0	1	0	0	0	5426	1057	37	1	1159	1	FAM124B	2	225266179	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	4934155	225266179	17933194	175	49353											
TM4SF20	79853	broad.mit.edu	37	chr2	228235653	228235653	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagttctgttgttgcagcacGctctttttcttgctgtcaag	9	10	4	0	rs138005777		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:228235653G>T	uc002vpb.2	-	2	265	c.227C>A	c.(226-228)GCG>GAG	p.A76E		NM_024795	NP_079071	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	76	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		GTTGCAGCACGCTCTTTTTCT	0.428													T	228235653	G	T	228235653	3	4	73	1	0	0	0	0	1	0	0	0	15966	1087	38	5	474	5	TM4SF20	2	228235653	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2969474	228235653	14963720	176	49354											
ITM2C	81618	broad.mit.edu	37	chr2	231740484	231740484	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcctgtgccccagtttggCggcggtgaccctgcagacat	14	13	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:231740484C>T	uc002vqz.2	+	3	531	c.411C>T	c.(409-411)GGC>GGT	p.G137G	ITM2C_uc002vra.2_Silent_p.G90G|ITM2C_uc002vrb.2_Silent_p.G137G|ITM2C_uc002vrc.2_Silent_p.G26G|ITM2C_uc002vrd.2_Silent_p.G26G	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C isoform 1	137	BRICHOS.				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding				0		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCCAGTTTGGCGGCGGTGACC	0.632													T	231740484	C	T	231740484	2	4	73	1	0	0	0	0	0	0	0	1	7914	755	27	1		1	ITM2C	2	231740484	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3504831	231740484	11458889	177	49355											
NEU2	4759	broad.mit.edu	37	chr2	233899664	233899664	+	Frame_Shift_Del	DEL	C	C	-													gggcaccggccctgatgggtCccccttgtttgggtgtctgt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:233899663_233899663TC>T	uc010zmn.2	+	1	1039	c.1039_1039TC>T	c.(1039-1041)tccfs	p.S347fs		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	347							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CCCTGATGGGTCCCCCTTGTT	0.592													-	233899664	C	-	233899664	7	5	73	1	0	1	0	1	0	0	0	0	10342	855	30	0	1046	0	NEU2	2	233899664	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	2159180	233899664	9299709	178	49356											
HJURP	55355	broad.mit.edu	37	chr2	234749823	234749823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcagatgtctgctgcgggcGagttgcgctgtgtgtggggt	19	7	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:234749823G>A	uc002vvg.2	-	8	1669	c.1603C>T	c.(1603-1605)CGC>TGC	p.R535C	HJURP_uc010znd.1_Missense_Mutation_p.R474C|HJURP_uc010zne.1_Missense_Mutation_p.R443C	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	535					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TGCTGCGGGCGAGTTGCGCTG	0.478													A	234749823	G	A	234749823	3	1	73	1	0	0	0	0	1	0	0	0	7189	1058	37	1	651	1	HJURP	2	234749823	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	850159	234749823	8449550	179	49357											
UBE2F	140739	broad.mit.edu	37	chr2	238881818	238881818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggacggcagccacagcGtccgactcgactcggagggt	14	15	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:238881818G>A	uc002vxk.2	+	2	160	c.69G>A	c.(67-69)GCG>GCA	p.A23A	UBE2F_uc010znn.1_Silent_p.A23A|UBE2F_uc002vxl.2_RNA|UBE2F_uc010zno.1_RNA|UBE2F_uc010znp.1_Silent_p.A23A|SCLY_uc002vxm.3_5'UTR	NM_080678	NP_542409	Q969M7	UBE2F_HUMAN	NEDD8-conjugating enzyme	23	Interaction with UBA3.				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding				0		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		CAGCCACAGCGTCCGACTCGA	0.458													A	238881818	G	A	238881818	2	1	73	1	0	0	0	0	0	0	0	1	16852	1132	40	1		1	UBE2F	2	238881818	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	4131995	238881818	4317555	180	49358											
ILKAP	80895	broad.mit.edu	37	chr2	239079235	239079235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccgagccccgctgcaccGccttgttggccagcctgttg	13	17	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:239079235G>A	uc002vxv.2	-	12	1251	c.1121C>T	c.(1120-1122)GCG>GTG	p.A374V	ILKAP_uc010zns.1_Missense_Mutation_p.A306V|ILKAP_uc002vxw.2_Missense_Mutation_p.A254V	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated protein	374	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			ovary(3)	3		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		CCGCTGCACCGCCTTGTTGGC	0.622													A	239079235	G	A	239079235	3	1	73	1	0	0	0	0	1	0	0	0	7714	1087	38	1	61	1	ILKAP	2	239079235	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	197417	239079235	4120138	181	49359											
OR6B2	389090	broad.mit.edu	37	chr2	240969019	240969019	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtgacaacagtgtacacGgcagagatgagcttgttgga	15	7	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:240969019G>A	uc002vyr.2	-	2	874	c.828C>T	c.(826-828)GCC>GCT	p.A276A	OR6B2_uc010zoc.1_Silent_p.A276A	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B,	276	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CAGTGTACACGGCAGAGATGA	0.488													A	240969019	G	A	240969019	2	1	73	1	0	0	0	0	0	0	0	1	11188	1103	39	1		1	OR6B2	2	240969019	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1889784	240969019	2230354	182	49360											
KIF1A	547	broad.mit.edu	37	chr2	241726711	241726711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttggtcgtgtcgttgatcCgagagaagaggtcctcgcag	15	9	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:241726711C>T	uc002vzy.2	-	5	532	c.386G>A	c.(385-387)CGG>CAG	p.R129Q	KIF1A_uc010fzk.2_Missense_Mutation_p.R129Q|KIF1A_uc002vzz.1_Missense_Mutation_p.R129Q	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	129	Kinesin-motor.				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)		GTCGTTGATCCGAGAGAAGAG	0.652													T	241726711	C	T	241726711	3	4	73	1	0	0	0	0	1	0	0	0	8283	652	23	1	4858	1	KIF1A	2	241726711	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	757692	241726711	1472662	183	49361											
ANO7	50636	broad.mit.edu	37	chr2	242135202	242135202	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacagaacagacatgcacaGgacctggcgggagacttttc	13	10	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:242135202G>T	uc002wax.2	+	4	516	c.413G>T	c.(412-414)AGG>ATG	p.R138M	ANO7_uc002waw.2_Missense_Mutation_p.R137M	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	138	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						GACATGCACAGGACCTGGCGG	0.612													T	242135202	G	T	242135202	3	4	73	1	0	0	0	0	1	0	0	0	702	1000	35	5	427	5	ANO7	2	242135202	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	408491	242135202	1064171	184	49362											
SEPT2	4735	broad.mit.edu	37	chr2	242265515	242265515	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaggttttgagttcacActgatggtggtcggtaagaa	12	4	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:242265515A>G	uc002wbc.2	+	4	538	c.117A>G	c.(115-117)ACA>ACG	p.T39T	SEPT2_uc002wbd.2_Silent_p.T39T|SEPT2_uc002wbf.2_Silent_p.T39T|SEPT2_uc002wbg.2_Silent_p.T39T|SEPT2_uc002wbh.2_Silent_p.T39T|SEPT2_uc010zop.1_Silent_p.T74T	NM_001008491	NP_001008491	Q15019	SEPT2_HUMAN	septin 2	39					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(1)	1		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TTGAGTTCACACTGATGGTGG	0.373													G	242265515	A	G	242265515	2	3	73	1	0	0	0	0	0	0	0	1	14064	146	6	3		3	SEPT2	2	242265515	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	130313	242265515	933858	185	49363											
C3orf32	51066	broad.mit.edu	37	chr3	8669438	8669438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgggactgcttggctttgCgcttggctccgcagcaggat	14	12	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:8669438C>T	uc003bqu.2	-	8	800	c.554G>A	c.(553-555)CGC>CAC	p.R185H	C3orf32_uc003bqz.2_Missense_Mutation_p.R185H|C3orf32_uc003bqt.2_Missense_Mutation_p.R134H|C3orf32_uc011atg.1_Missense_Mutation_p.R207H|C3orf32_uc003bqv.2_Missense_Mutation_p.R134H|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_RNA|C3orf32_uc003bqy.2_Missense_Mutation_p.R185H	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	hypothetical protein LOC51066	185	Cys-rich.									skin(1)	1						CTTGGCTTTGCGCTTGGCTCC	0.667													T	8669438	C	T	8669438	3	4	73	1	0	0	0	0	1	0	0	0	2222	768	27	1	527	1	C3orf32	3	8669438	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08		8669438	189352992	186	49364											
SLC6A6	6533	broad.mit.edu	37	chr3	14489254	14489254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcatggaggacaccatgCgcaagaacaagagtgtctgg	13	9	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:14489254C>T	uc010heg.2	+	12	820	c.529C>T	c.(529-531)CGC>TGC	p.R177C	SLC6A6_uc003byp.2_Missense_Mutation_p.R177C|SLC6A6_uc010hef.1_RNA|SLC6A6_uc003byq.2_Missense_Mutation_p.R177C|SLC6A6_uc003byr.2_RNA	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter	177	Extracellular (Potential).				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			ovary(1)	1						GGACACCATGCGCAAGAACAA	0.557													T	14489254	C	T	14489254	3	4	73	1	0	0	0	0	1	0	0	0	14688	768	27	1	539	1	SLC6A6	3	14489254	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	5819816	14489254	183533176	187	49365											
MRPS25	64432	broad.mit.edu	37	chr3	15094033	15094033	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctggggcagggcaccTgcccttccacttcacagatg	12	15	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:15094033T>C	uc003bzl.2	-	4	552	c.437A>G	c.(436-438)CAG>CGG	p.Q146R	MRPS25_uc011avl.1_Missense_Mutation_p.R117G|MRPS25_uc011avm.1_Intron	NM_022497	NP_071942	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	146					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0						GCAGGGCACCTGCCCTTCCAC	0.592													C	15094033	T	C	15094033	3	2	73	1	0	0	0	0	1	0	0	0	9836	1580	55	3	88	3	MRPS25	3	15094033	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	604779	15094033	182928397	188	49366											
ZNF385D	79750	broad.mit.edu	37	chr3	21462764	21462764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgggtccaggagctggcCgcaggagtgccggaggaagc	19	9	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:21462764C>T	uc003cce.2	-	8	1538	c.1130G>A	c.(1129-1131)CGG>CAG	p.R377Q		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	377						nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|skin(2)|ovary(1)	5						AGGAGCTGGCCGCAGGAGTGC	0.453													T	21462764	C	T	21462764	3	4	73	1	0	0	0	0	1	0	0	0	17875	652	23	1	61	1	ZNF385D	3	21462764	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	6368731	21462764	176559666	189	49367											
NEK10	152110	broad.mit.edu	37	chr3	27183068	27183068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggacacagcaattcctgCtgatgctgtgggtgataaat	12	8	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:27183068C>T	uc010hfk.2	-	12	1211	c.982G>A	c.(982-984)GCA>ACA	p.A328T	NEK10_uc010hfj.2_Missense_Mutation_p.A271T			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	1016							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						GCAATTCCTGCTGATGCTGTG	0.348													T	27183068	C	T	27183068	3	4	73	1	0	0	0	0	1	0	0	0	10322	812	28	2		2	NEK10	3	27183068	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	5720304	27183068	170839362	190	49368											
NEK10	152110	broad.mit.edu	37	chr3	27346260	27346260	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaaaatatgaagaagctGtttgatgcctccccaaatgc	8	8	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:27346260G>A	uc003cdt.1	-	13	1280	c.1006C>T	c.(1006-1008)CAG>TAG	p.Q336*		NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10 isoform 3	336							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						TGAAGAAGCTGTTTGATGCCT	0.483													A	27346260	G	A	27346260	4	1	73	1	0	0	0	0	0	1	0	0	10322	1386	48	4	1184	4	NEK10	3	27346260	Nonsense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	163192	27346260	170676170	191	49369											
CMTM7	112616	broad.mit.edu	37	chr3	32495741	32495741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccttcccaagatgcagccGtctgatgaggccacaacccc	8	16	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:32495741G>A	uc003cey.1	+	5	759	c.523G>A	c.(523-525)GTC>ATC	p.V175I	CMTM7_uc003cez.1_Missense_Mutation_p.V142I	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing	175					chemotaxis	extracellular space|integral to membrane	cytokine activity				0						AGATGCAGCCGTCTGATGAGG	0.587													A	32495741	G	A	32495741	3	1	73	1	0	0	0	0	1	0	0	0	3588	1145	40	1	541	1	CMTM7	3	32495741	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	5149481	32495741	165526689	192	49370											
CLASP2	23122	broad.mit.edu	37	chr3	33552259	33552259	+	Splice_Site	DEL	A	A	-													ctcagcagatctcaccacctAaaaaaaataggaaattaagc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:33552258_33552258TA>T	uc021wvc.1	-	37	4346	c.4135_splice	c.e37-1	p.V1379_splice	CLASP2_uc003cfs.3_Splice_Site_p.V578_splice|CLASP2_uc021wva.1_Splice_Site_p.V453_splice|CLASP2_uc021wvb.1_Splice_Site_p.V1158_splice	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	1380										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCTCACCACCTAAAAAAAATA	0.353													-	33552259	A	-	33552259	8	5	73	1	0	1	0	1	0	0	1	0	3455	377	13	0		0	CLASP2	3	33552259	Splice_Site	DEL	A	TCGA-BR-8360-01A-11D-2340-08	1056518	33552259	164470171	193	49371											
TRANK1	9881	broad.mit.edu	37	chr3	36898206	36898206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacatgctccctgcccttctCggcctctgtgtcctccacat	7	18	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:36898206C>T	uc003cgj.2	-	3	1527	c.1225G>A	c.(1225-1227)GAG>AAG	p.E409K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	959					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						CTGCCCTTCTCGGCCTCTGTG	0.483													T	36898206	C	T	36898206	3	4	73	1	0	0	0	0	1	0	0	0	16451	893	31	1	5950	1	TRANK1	3	36898206	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3345947	36898206	161124224	194	49372											
SCN10A	6336	broad.mit.edu	37	chr3	38768331	38768331	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gccttggagctggagagtggGagtttcaccaccagctcagg	15	10	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:38768331G>T	uc003ciq.2	-	16	2853	c.2853C>A	c.(2851-2853)CTC>CTA	p.L951L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	951					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGAGAGTGGGAGTTTCACCA	0.602													T	38768331	G	T	38768331	2	4	73	1	0	0	0	0	0	0	0	1	13912	1161	41	5		5	SCN10A	3	38768331	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1870125	38768331	159254099	195	49373											
CCR8	1237	broad.mit.edu	37	chr3	39374508	39374508	+	Frame_Shift_Del	DEL	A	A	-													gcaccagctgaagaggtgtcAaaaccacaacaagaccaagg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:39374507_39374507CA>C	uc010hhr.2	+	1	823	c.685_685CA>C	c.(685-687)caafs	p.Q229fs	CCR8_uc003cjm.2_Frame_Shift_Del_p.Q146fs|CCR8_uc021wwe.1_Frame_Shift_Del_p.Q229fs	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	229					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		GAAGAGGTGTCAAAACCACAA	0.423													-	39374508	A	-	39374508	7	5	73	1	0	1	0	1	0	0	0	0	2947	130	5	0	688	0	CCR8	3	39374508	Frame_Shift_Del	DEL	A	TCGA-BR-8360-01A-11D-2340-08	606177	39374508	158647922	196	49374											
LIMD1	8994	broad.mit.edu	37	chr3	45637565	45637565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgtccaccctgcctgaGttatcttgtaaagagggtcc	11	10	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:45637565G>A	uc003coq.2	+	1	1243	c.1194G>A	c.(1192-1194)GAG>GAA	p.E398E		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	398					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCCTGCCTGAGTTATCTTGTA	0.622													A	45637565	G	A	45637565	2	1	73	1	0	0	0	0	0	0	0	1	8798	1020	36	4		4	LIMD1	3	45637565	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	6263057	45637565	152384865	197	49375											
CCR3	1232	broad.mit.edu	37	chr3	46307111	46307111	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttttggtgtcatcaccagCatcgtcacctggggcctggc	11	13	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:46307111C>A	uc003cpg.1	+	4	1005	c.462C>A	c.(460-462)AGC>AGA	p.S154R	CCR3_uc003cpi.1_Missense_Mutation_p.S154R|CCR3_uc003cpj.1_Missense_Mutation_p.S154R|CCR3_uc003cpk.1_Missense_Mutation_p.S175R|CCR3_uc010hjb.1_Missense_Mutation_p.S172R|CCR3_uc003cpl.1_Missense_Mutation_p.S187R	NM_178329	NP_847899	P51677	CCR3_HUMAN	CC chemokine receptor 3 isoform 1	154	Helical; Name=4; (Potential).				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				ovary(3)|lung(3)|breast(1)|kidney(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TCATCACCAGCATCGTCACCT	0.488													A	46307111	C	A	46307111	3	1	73	1	0	0	0	0	1	0	0	0	2942	709	25	5	531	5	CCR3	3	46307111	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	669546	46307111	151715319	198	49376											
KLHL18	23276	broad.mit.edu	37	chr3	47378106	47378106	+	Missense_Mutation	SNP	G	G	T													tcccatgacaacagcccgcaGccgcgttggcgtggctgtgg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:47378106G>T	uc003crd.2	+	7	1106	c.980G>T	c.(979-981)AGC>ATC	p.S327I	KLHL18_uc003crc.2_Missense_Mutation_p.S327I|KLHL18_uc011bav.1_Missense_Mutation_p.S215I|KLHL18_uc010hjq.1_Missense_Mutation_p.S183I	NM_025010	NP_079286	O94889	KLH18_HUMAN	kelch-like 18	327	Kelch 1.										0		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		ACAGCCCGCAGCCGCGTTGGC	0.567													T	47378106	G	T	47378106	3	4	73	1	0	0	0	0	1	0	0	0	8373	971	34	5	1006	5	KLHL18	3	47378106	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1070995	47378106	150644324	199	49377	190	2									
KLHL18	23276	broad.mit.edu	37	chr3	47378108	47378108	+	Missense_Mutation	SNP	C	C	T													ccatgacaacagcccgcagcCgcgttggcgtggctgtggtg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:47378108C>T	uc003crd.2	+	7	1108	c.982C>T	c.(982-984)CGC>TGC	p.R328C	KLHL18_uc003crc.2_Missense_Mutation_p.R328C|KLHL18_uc011bav.1_Missense_Mutation_p.R216C|KLHL18_uc010hjq.1_Missense_Mutation_p.R184C	NM_025010	NP_079286	O94889	KLH18_HUMAN	kelch-like 18	328	Kelch 1.										0		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		AGCCCGCAGCCGCGTTGGCGT	0.567													T	47378108	C	T	47378108	3	4	73	1	0	0	0	0	1	0	0	0	8373	652	23	1	1008	1	KLHL18	3	47378108	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2	47378108	150644322	200	49378	190	2									
CELSR3	1951	broad.mit.edu	37	chr3	48698167	48698167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggatgctggccaggcccGtgttgttggacagcggtggc	17	11	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:48698167G>A	uc003cul.2	-	1	2182	c.1901C>T	c.(1900-1902)ACG>ATG	p.T634M	CELSR3_uc003cuf.1_Missense_Mutation_p.T704M	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	634	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCCAGGCCCGTGTTGTTGGA	0.572													A	48698167	G	A	48698167	3	1	73	1	0	0	0	0	1	0	0	0	3223	1145	40	1	8177	1	CELSR3	3	48698167	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1320059	48698167	149324263	201	49379											
LAMB2	3913	broad.mit.edu	37	chr3	49166186	49166186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccttcctgtagccgcaCgaagcctgagccagtccagg	11	15	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:49166186C>T	uc003cwe.2	-	14	2097	c.1798G>A	c.(1798-1800)GTG>ATG	p.V600M	LAMB2_uc003cwf.1_Missense_Mutation_p.V600M	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	600	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTAGCCGCACGAAGCCTGAG	0.617													T	49166186	C	T	49166186	3	4	73	1	0	0	0	0	1	0	0	0	8611	536	19	1	3674	1	LAMB2	3	49166186	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	468019	49166186	148856244	202	49380											
RNF123	63891	broad.mit.edu	37	chr3	49743092	49743092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgatgtacaacctcagcGtacaccagcagctgggcaag	10	12	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:49743092G>A	uc003cxh.2	+	24	2370	c.2284G>A	c.(2284-2286)GTA>ATA	p.V762I	RNF123_uc010hky.1_Missense_Mutation_p.V424I|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	762						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CAACCTCAGCGTACACCAGCA	0.622													A	49743092	G	A	49743092	3	1	73	1	0	0	0	0	1	0	0	0	13433	1145	40	1	2374	1	RNF123	3	49743092	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	576906	49743092	148279338	203	49381											
GMPPB	29925	broad.mit.edu	37	chr3	49760467	49760467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catggcttggaaggggaaatCgcagatcacgtcactgttga	13	8	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:49760467C>T	uc003cxk.1	-	4	565	c.340G>A	c.(340-342)GAT>AAT	p.D114N	GMPPB_uc003cxl.1_Missense_Mutation_p.D114N	NM_021971	NP_068806	Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B isoform 2	114					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAGGGGAAATCGCAGATCACG	0.607													T	49760467	C	T	49760467	3	4	73	1	0	0	0	0	1	0	0	0	6495	884	31	1	843	1	GMPPB	3	49760467	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	17375	49760467	148261963	204	49382											
MON1A	84315	broad.mit.edu	37	chr3	49949043	49949043	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccatagtgctggaaagtgCctcctcagacccatagcggg	11	13	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:49949043C>A	uc003cxz.2	-	3	946	c.820G>T	c.(820-822)GCA>TCA	p.A274S	MON1A_uc003cya.2_Intron|MON1A_uc003cyb.2_Intron	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	MON1 homolog A isoform a	177							protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTGGAAAGTGCCTCCTCAGAC	0.592													A	49949043	C	A	49949043	3	1	73	1	0	0	0	0	1	0	0	0	9698	739	26	5	1154	5	MON1A	3	49949043	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	188576	49949043	148073387	205	49383											
MON1A	84315	broad.mit.edu	37	chr3	49949063	49949063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcctcagacccatagcggGagtacacaggcttccctgcc	9	17	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:49949063G>A	uc003cxz.2	-	3	926	c.800C>T	c.(799-801)TCC>TTC	p.S267F	MON1A_uc003cya.2_Intron|MON1A_uc003cyb.2_Intron	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	MON1 homolog A isoform a	170							protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCCATAGCGGGAGTACACAGG	0.597													A	49949063	G	A	49949063	3	1	73	1	0	0	0	0	1	0	0	0	9698	1174	41	4	1174	4	MON1A	3	49949063	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	20	49949063	148073367	206	49384											
ITIH3	3699	broad.mit.edu	37	chr3	52838744	52838744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttgctgcacctgcagatGcagaaggtaagcctttagcc	10	13	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:52838744G>A	uc003dfv.2	+	15	1903	c.1867G>A	c.(1867-1869)GCA>ACA	p.A623T	ITIH3_uc011bek.1_Intron	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	623					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACCTGCAGATGCAGAAGGTAA	0.557													A	52838744	G	A	52838744	3	1	73	1	0	0	0	0	1	0	0	0	7905	1319	46	2	1925	2	ITIH3	3	52838744	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2889681	52838744	145183686	207	49385											
WNT5A	7474	broad.mit.edu	37	chr3	55513591	55513591	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggttattcatacctagcgAcctgcaagggggggagatgt	15	7	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:55513591A>G	uc003dhn.2	-	3	460	c.142T>C	c.(142-144)TCG>CCG	p.S48P	WNT5A_uc003dhm.2_Missense_Mutation_p.S33P|WNT5A_uc010hmw.2_Missense_Mutation_p.S33P|WNT5A_uc010hmx.2_Intron	NM_003392	NP_003383	P41221	WNT5A_HUMAN	wingless-type MMTV integration site family,	48					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		ATACCTAGCGACCTGCAAGGG	0.468													G	55513591	A	G	55513591	3	3	73	1	0	0	0	0	1	0	0	0	17388	289	10	3	1012	3	WNT5A	3	55513591	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	2674847	55513591	142508839	208	49386											
PTPRG	5793	broad.mit.edu	37	chr3	62189448	62189448	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaccagacgggcggaaggaGggatgccggcccaggcctgg	19	11	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:62189448G>T	uc003dlb.2	+	12	2698	c.1979G>T	c.(1978-1980)AGG>ATG	p.R660M	PTPRG_uc003dlc.2_Missense_Mutation_p.R660M	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	660	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGCGGAAGGAGGGATGCCGGC	0.652													T	62189448	G	T	62189448	3	4	73	1	0	0	0	0	1	0	0	0	12802	1000	35	5	2025	5	PTPRG	3	62189448	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	6675857	62189448	135832982	209	49387											
THOC7	80145	broad.mit.edu	37	chr3	63825431	63825431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctccatcaatgaggagaCgcttccgtataacttcgtct	7	12	3	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:63825431C>T	uc003dlt.3	-	2	169	c.38G>A	c.(37-39)CGT>CAT	p.R13H	C3orf49_uc003dls.3_Intron|THOC7_uc003dlu.3_Intron	NM_025075	NP_079351	Q6I9Y2	THOC7_HUMAN	Ngg1 interacting factor 3 like 1 binding protein	13					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		AATGAGGAGACGCTTCCGTAT	0.438													T	63825431	C	T	63825431	3	4	73	1	0	0	0	0	1	0	0	0	15867	536	19	1	604	1	THOC7	3	63825431	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1635983	63825431	134196999	210	49388											
EIF4E3	317649	broad.mit.edu	37	chr3	71739264	71739266	+	In_Frame_Del	DEL	GAC	GAC	-													gcatttacattccagacttgGacgacgtcttctcggtcccg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:71739263_71739265GGAC>G	uc003dov.4	-	5	532_534	c.524_526GTCC>C	c.(523-528)gtccaa>gCaa	p.175_176VQ>A	EIF4E3_uc011bgc.2_In_Frame_Del_p.69_70VQ>A|EIF4E3_uc003dox.3_In_Frame_Del_p.69_70VQ>A|EIF4E3_uc011bgd.2_In_Frame_Del_p.69_70VQ>A|EIF4E3_uc010hoc.3_In_Frame_Del_p.69_70VQ>A	NM_001134651	NP_775495	Q8N5X7	IF4E3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E family member 3 (EIF4E3), transcript variant 1, mRNA.	175					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			large_intestine(1)|lung(3)	4		Prostate(10;0.0166)		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)		TTCCAGACTTGGACGACGTCTTC	0.394													-	71739266	GAC	-	71739264	7	5	73	1	0	1	0	1	0	0	0	0	5031	1161	41	0	157	0	EIF4E3	3	71739264	In_Frame_Del	DEL	GAC	TCGA-BR-8360-01A-11D-2340-08	7913833	71739264	126283166	211	49389											
PDZRN3	23024	broad.mit.edu	37	chr3	73450150	73450150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatcgtagtattcatgggCtgagggatgcctgaaaagag	15	5	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:73450150C>T	uc003dpl.1	-	5	1273	c.1177G>A	c.(1177-1179)GCC>ACC	p.A393T	PDZRN3_uc011bgh.1_Missense_Mutation_p.A50T|PDZRN3_uc010hoe.1_Missense_Mutation_p.A91T|PDZRN3_uc011bgf.1_Missense_Mutation_p.A110T|PDZRN3_uc011bgg.1_Missense_Mutation_p.A113T	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	393							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TATTCATGGGCTGAGGGATGC	0.478													T	73450150	C	T	73450150	3	4	73	1	0	0	0	0	1	0	0	0	11709	797	28	2	2047	2	PDZRN3	3	73450150	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1710886	73450150	124572280	212	49390											
ROBO1	6091	broad.mit.edu	37	chr3	78796020	78796020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctactgcaaccatgacatccGaagggttttgtctgaagtca	9	10	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:78796020G>A	uc003dqe.2	-	5	738	c.530C>T	c.(529-531)TCG>TTG	p.S177L	ROBO1_uc003dqb.2_Missense_Mutation_p.S138L|ROBO1_uc003dqc.2_Missense_Mutation_p.S138L|ROBO1_uc003dqd.2_Missense_Mutation_p.S138L	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	177	Extracellular (Potential).|Ig-like C2-type 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CATGACATCCGAAGGGTTTTG	0.458													A	78796020	G	A	78796020	3	1	73	1	0	0	0	0	1	0	0	0	13513	1059	37	1	4546	1	ROBO1	3	78796020	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	5345870	78796020	119226410	213	49391											
FILIP1L	11259	broad.mit.edu	37	chr3	99569681	99569681	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctgctcttcctcctgaactCtggcttcagcaagggctagt	9	13	4	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:99569681C>A	uc003dtm.2	-	5	1302	c.839G>T	c.(838-840)AGA>ATA	p.R280I	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.R280I|FILIP1L_uc010hpf.2_Intron|FILIP1L_uc010hpg.2_Missense_Mutation_p.R40I|FILIP1L_uc003dtn.2_Missense_Mutation_p.R40I|FILIP1L_uc003dtp.1_Missense_Mutation_p.R40I	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	280	Potential.					cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						CTCCTGAACTCTGGCTTCAGC	0.483													A	99569681	C	A	99569681	3	1	73	1	0	0	0	0	1	0	0	0	5895	913	32	5	2597	5	FILIP1L	3	99569681	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	20773661	99569681	98452749	214	49392											
GPR128	84873	broad.mit.edu	37	chr3	100354673	100354673	+	Splice_Site	DEL	A	A	-													agaaatgcttcacctgaggtAaaactcacagagctttaaaa							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:100354672_100354672TA>T	uc003duc.3	+	5	865	c.597_splice	c.e5+2	p.E199_splice	GPR128_uc011bhc.2_Splice_Site	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	199					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TCACCTGAGGTAAAACTCACA	0.368													-	100354673	A	-	100354673	8	5	73	1	0	1	0	1	0	0	1	0	6641	377	13	0		0	GPR128	3	100354673	Splice_Site	DEL	A	TCGA-BR-8360-01A-11D-2340-08	784992	100354673	97667757	215	49393											
CEP97	79598	broad.mit.edu	37	chr3	101445494	101445494	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattaggtccaaatttacccTgtgaagctgatattcacact	6	9	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:101445494T>C	uc003dvk.1	+	2	127	c.100T>C	c.(100-102)TGT>CGT	p.C34R	CEP97_uc010hpm.1_Missense_Mutation_p.C34R|CEP97_uc011bhf.1_Missense_Mutation_p.C34R|CEP97_uc003dvl.1_5'Flank	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	34						centrosome|nucleus	protein binding			ovary(2)	2						AAATTTACCCTGTGAAGCTGA	0.328													C	101445494	T	C	101445494	3	2	73	1	0	0	0	0	1	0	0	0	3263	1580	55	3	106	3	CEP97	3	101445494	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	1090821	101445494	96576936	216	49394											
ALCAM	214	broad.mit.edu	37	chr3	105250904	105250904	+	Frame_Shift_Del	DEL	A	A	-													tttctcgaaacagagcagctAaaaaaggtaagaattgtttt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:105250903_105250903TA>T	uc003dvx.3	+	3	1148	c.452_452TA>T	c.(451-453)ctafs	p.L151fs	ALCAM_uc003dvw.2_Frame_Shift_Del_p.L151fs|ALCAM_uc003dvy.3_Frame_Shift_Del_p.L151fs|ALCAM_uc011bhh.1_Frame_Shift_Del_p.L100fs|ALCAM_uc010hpp.3_5'Flank	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	151	Ig-like V-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.L151L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ACAGAGCAGCTAAAAAAGGTA	0.338													-	105250904	A	-	105250904	7	5	73	1	0	1	0	1	0	0	0	0	487	349	13	0	467	0	ALCAM	3	105250904	Frame_Shift_Del	DEL	A	TCGA-BR-8360-01A-11D-2340-08	3805410	105250904	92771526	217	49395											
SEMA5B	54437	broad.mit.edu	37	chr3	122646705	122646705	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcccaggctgcggtagatgGcagggtcccgacctgagaag	16	11	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:122646705G>T	uc003efz.1	-	8	1086	c.782C>A	c.(781-783)GCC>GAC	p.A261D	SEMA5B_uc011bju.1_Missense_Mutation_p.A203D|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.A261D|SEMA5B_uc010hro.1_Missense_Mutation_p.A203D|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	261	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		GCGGTAGATGGCAGGGTCCCG	0.622													T	122646705	G	T	122646705	3	4	73	1	0	0	0	0	1	0	0	0	14038	1203	42	5	2737	5	SEMA5B	3	122646705	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	17395801	122646705	75375725	218	49396											
CCDC14	64770	broad.mit.edu	37	chr3	123667978	123667978	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcttattatctgaagaTgctaatgtggaagaagaaaa	9	3	2	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:123667978T>C	uc011bjx.1	-	6	589	c.498A>G	c.(496-498)TCA>TCG	p.S166S	CCDC14_uc003egv.3_5'UTR|CCDC14_uc003egx.3_5'UTR|CCDC14_uc010hrt.2_Silent_p.A125A|CCDC14_uc003egy.3_5'UTR|CCDC14_uc003egz.2_5'UTR	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	166						centrosome					0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TATCTGAAGATGCTAATGTGG	0.343													C	123667978	T	C	123667978	2	2	73	1	0	0	0	0	0	0	0	1	2773	1478	51	3		3	CCDC14	3	123667978	Silent	SNP	T	TCGA-BR-8360-01A-11D-2340-08	1021273	123667978	74354452	219	49397											
KALRN	8997	broad.mit.edu	37	chr3	124281775	124281775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccatccaggtggggcagaCggtagagctgctggagcggc	18	10	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:124281775C>T	uc003ehg.2	+	34	5142	c.5015C>T	c.(5014-5016)ACG>ATG	p.T1672M	KALRN_uc003ehi.2_Missense_Mutation_p.T45M	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1672	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GTGGGGCAGACGGTAGAGCTG	0.662													T	124281775	C	T	124281775	3	4	73	1	0	0	0	0	1	0	0	0	7975	536	19	1	5216	1	KALRN	3	124281775	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	613797	124281775	73740655	220	49398											
ROPN1B	152015	broad.mit.edu	37	chr3	125701213	125701213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttccagtttctctacaCgtatattgccgaagtggatg	8	11	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:125701213C>T	uc003eih.2	+	5	725	c.497C>T	c.(496-498)ACG>ATG	p.T166M	ROPN1B_uc010hsb.2_Missense_Mutation_p.T166M|ROPN1B_uc010hsc.2_Missense_Mutation_p.T74M	NM_001012337	NP_001012337	Q9BZX4	ROP1B_HUMAN	ropporin, rhophilin associated protein 1B	166					acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity				0				GBM - Glioblastoma multiforme(114;0.151)		TTTCTCTACACGTATATTGCC	0.438													T	125701213	C	T	125701213	3	4	73	1	0	0	0	0	1	0	0	0	13524	536	19	1	511	1	ROPN1B	3	125701213	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1419438	125701213	72321217	221	49399											
ALDH1L1	10840	broad.mit.edu	37	chr3	125844513	125844513	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccaggcaggcagctgtcttCcaggacagcatcatcagggg	14	12	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:125844513C>T	uc003eim.1	-	15	1936	c.1746G>A	c.(1744-1746)TGG>TGA	p.W582*	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Nonsense_Mutation_p.W481*	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	582	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CAGCTGTCTTCCAGGACAGCA	0.587													T	125844513	C	T	125844513	4	4	73	1	0	0	0	0	0	1	0	0	494	856	30	4	998	4	ALDH1L1	3	125844513	Nonsense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	143300	125844513	72177917	222	49400											
CHST13	166012	broad.mit.edu	37	chr3	126260961	126260961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttaccgcaacaagctcgCgcgcccctacagcgccgcct	10	19	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:126260961C>T	uc003eja.2	+	3	566	c.566C>T	c.(565-567)GCG>GTG	p.A189V		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	carbohydrate sulfotransferase 13	189	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.151)		AACAAGCTCGCGCGCCCCTAC	0.557													T	126260961	C	T	126260961	3	4	73	1	0	0	0	0	1	0	0	0	3401	768	27	1	576	1	CHST13	3	126260961	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	416448	126260961	71761469	223	49401											
PLXNA1	5361	broad.mit.edu	37	chr3	126707619	126707619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgcatgagcagacaggCgaggtgtatgtgggcgcagt	19	6	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:126707619C>T	uc003ejg.2	+	1	118	c.114C>T	c.(112-114)GGC>GGT	p.G38G		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	61	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		AGCAGACAGGCGAGGTGTATG	0.652													T	126707619	C	T	126707619	2	4	73	1	0	0	0	0	0	0	0	1	12119	755	27	1		1	PLXNA1	3	126707619	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	446658	126707619	71314811	224	49402											
IFT122	55764	broad.mit.edu	37	chr3	129198657	129198657	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagtgcctgtccttcagCggagtgaaggagcgggagtg	17	9	1	1	rs142641511	by1000genomes	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:129198657C>T	uc003emm.2	+	13	1586	c.1380C>T	c.(1378-1380)AGC>AGT	p.S460S	IFT122_uc003eml.2_Silent_p.S511S|IFT122_uc003emn.2_Silent_p.S401S|IFT122_uc003emo.2_Silent_p.S349S|IFT122_uc003emp.2_Silent_p.S310S|IFT122_uc010htc.2_Silent_p.S452S|IFT122_uc011bky.1_Silent_p.S251S|IFT122_uc003emq.2_Silent_p.S300S|IFT122_uc003emr.2_Silent_p.S251S|IFT122_uc011bla.1_Silent_p.S251S|IFT122_uc011bkx.1_Silent_p.S300S|IFT122_uc011bkz.1_RNA|IFT122_uc010htd.1_5'Flank	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	460					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						TGTCCTTCAGCGGAGTGAAGG	0.547													T	129198657	C	T	129198657	2	4	73	1	0	0	0	0	0	0	0	1	7555	767	27	1		1	IFT122	3	129198657	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2491038	129198657	68823773	225	49403											
ASTE1	28990	broad.mit.edu	37	chr3	130732962	130732962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaccattaacaacccaaacCggttgtttccctcataccaa	3	15	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:130732962C>T	uc003env.1	-	6	2421	c.1979G>A	c.(1978-1980)CGG>CAG	p.R660Q	ATP2C1_uc011blh.1_Intron|ATP2C1_uc011bli.1_Intron|ATP2C1_uc003enm.2_Intron|ATP2C1_uc003enn.2_Intron|ATP2C1_uc003enp.2_Intron|ATP2C1_uc003enr.2_Intron|ATP2C1_uc003ens.2_Intron|ATP2C1_uc003ent.2_Intron|ASTE1_uc010htm.1_Missense_Mutation_p.R685Q|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	660					DNA repair		nuclease activity				0						CAACCCAAACCGGTTGTTTCC	0.373													T	130732962	C	T	130732962	3	4	73	1	0	0	0	0	1	0	0	0	1062	652	23	1	64	1	ASTE1	3	130732962	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1534305	130732962	67289468	226	49404											
ZBTB38	253461	broad.mit.edu	37	chr3	141164326	141164326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatgcacatgagatgtcaCaccggggagaagccatacca	10	10	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:141164326C>T	uc003etw.2	+	8	4078	c.3096C>T	c.(3094-3096)CAC>CAT	p.H1032H	ZBTB38_uc010hun.2_Silent_p.H1029H|ZBTB38_uc010huo.2_Silent_p.H1032H|ZBTB38_uc003ety.2_Silent_p.H1032H|ZBTB38_uc010hup.2_Silent_p.H1033H	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	1032	C2H2-type 6.				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						TGAGATGTCACACCGGGGAGA	0.547													T	141164326	C	T	141164326	2	4	73	1	0	0	0	0	0	0	0	1	17536	477	17	4		4	ZBTB38	3	141164326	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	10431364	141164326	56858104	227	49405											
FAM194A	131831	broad.mit.edu	37	chr3	150421519	150421519	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccccaccaactcctcctccAccacctcctcctcctcctcc	0	28	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:150421519A>T	uc003eyg.2	-	1	224	c.167T>A	c.(166-168)GTG>GAG	p.V56E	FAM194A_uc003eyh.2_Intron	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	56	Glu-rich.									skin(2)|ovary(1)	3						ctcctcctccaccacctcctc	0.199													T	150421519	A	T	150421519	3	4	73	1	0	0	0	0	1	0	0	0	5526	159	6	5	1880	5	FAM194A	3	150421519	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	9257193	150421519	47600911	228	49406											
GMPS	8833	broad.mit.edu	37	chr3	155633847	155633849	+	In_Frame_Del	DEL	GAG	GAG	-													gagaaatgaacttgaaaccaGaggaggttttccttgcccaa							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:155633847_155633849delGAG	uc003faq.2	+	9	1413_1415	c.1078_1080delGAG	c.(1078-1080)GAGdel	p.E361del	GMPS_uc011bom.1_In_Frame_Del_p.E262del	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	361					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTTGAAACCAGAGGAGGTTTTCC	0.379			T	MLL	AML								-	155633849	GAG	-	155633847	7	5	73	1	0	1	0	1	0	0	0	0	6498	943	33	0	1112	0	GMPS	3	155633847	In_Frame_Del	DEL	GAG	TCGA-BR-8360-01A-11D-2340-08	5212328	155633847	42388583	229	49407											
SI	6476	broad.mit.edu	37	chr3	164781250	164781250	+	Frame_Shift_Del	DEL	A	A	-													ccattgcattgctattcattAaaaaaacaccgaatgacttt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:164781249_164781249TA>T	uc003fei.3	-	7	951	c.888_888TA>A	c.(886-888)ttafs	p.L296fs		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	296	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.L296fs*4(2)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGCTATTCATTAAAAAAACAC	0.259										HNSCC(35;0.089)			-	164781250	A	-	164781250	7	5	73	1	0	1	0	1	0	0	0	0	14297	372	13	0	4760	0	SI	3	164781250	Frame_Shift_Del	DEL	A	TCGA-BR-8360-01A-11D-2340-08	9147403	164781250	33241180	230	49408											
SERPINI1	5274	broad.mit.edu	37	chr3	167507093	167507093	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	attgctcttgcaatgggaatGatggaacttggggcccaagg	14	7	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:167507093G>C	uc003ffa.3	+	2	375	c.177G>C	c.(175-177)ATG>ATC	p.M59I	SERPINI1_uc003ffb.3_Missense_Mutation_p.M59I	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN	neuroserpin precursor	59					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(1)	1						CAATGGGAATGATGGAACTTG	0.413													C	167507093	G	C	167507093	3	2	73	1	0	0	0	0	1	0	0	0	14118	1290	45	5	179	5	SERPINI1	3	167507093	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2725843	167507093	30515337	231	49409											
SERPINI1	5274	broad.mit.edu	37	chr3	167507159	167507159	+	Frame_Shift_Del	DEL	A	A	-													tcaatgggatatgacagcctAaaaaatggtaagagtgatca							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:167507159delA	uc003ffa.3	+	2	441	c.243delA	c.(241-243)CTAfs	p.L81fs	SERPINI1_uc003ffb.3_Frame_Shift_Del_p.L81fs	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN	neuroserpin precursor	81					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(1)	1						ATGACAGCCTAAAAAATGGTA	0.388													-	167507159	A	-	167507159	7	5	73	1	0	1	0	1	0	0	0	0	14118	349	13	0	245	0	SERPINI1	3	167507159	Frame_Shift_Del	DEL	A	TCGA-BR-8360-01A-11D-2340-08	66	167507159	30515271	232	49410											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952085	A	G	178952085	3	3	73	1	0	0	0	0	1	0	0	0	11913	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	11444926	178952085	19070345	233	49411											
KLHL24	54800	broad.mit.edu	37	chr3	183368863	183368863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcgttgggtctatcgtgCcgttgatctgagaagaccac	12	10	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:183368863C>T	uc003flv.2	+	3	1014	c.719C>T	c.(718-720)GCC>GTC	p.A240V	KLHL24_uc003flw.2_Missense_Mutation_p.A240V|KLHL24_uc003flx.2_Missense_Mutation_p.A240V	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	240	BACK.					axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GTCTATCGTGCCGTTGATCTG	0.423													T	183368863	C	T	183368863	3	4	73	1	0	0	0	0	1	0	0	0	8379	739	26	2	721	2	KLHL24	3	183368863	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	4416778	183368863	14653567	234	49412											
PSMD2	5708	broad.mit.edu	37	chr3	184025728	184025728	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctctgcccctaccacagCgaccggcagcttatgagcca	8	18	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:184025728C>T	uc003fnn.1	+	19	2382	c.2349C>T	c.(2347-2349)AGC>AGT	p.S783S	PSMD2_uc011brj.1_Silent_p.S624S|PSMD2_uc011brk.1_Silent_p.S653S	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	783					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CCTACCACAGCGACCGGCAGC	0.522													T	184025728	C	T	184025728	2	4	73	1	0	0	0	0	0	0	0	1	12698	767	27	1		1	PSMD2	3	184025728	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	656865	184025728	13996702	235	49413											
CHRD	8646	broad.mit.edu	37	chr3	184101309	184101309	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccatccctgcccatcAggtgcaagtggtagggacaa	10	14	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:184101309A>G	uc003fov.2	+	12	1567	c.1321_splice	c.e12-2	p.V441_splice	CHRD_uc003fow.2_Splice_Site_p.V71_splice|CHRD_uc003fox.2_Splice_Site_p.V441_splice|CHRD_uc003foy.2_Splice_Site_p.V71_splice|CHRD_uc010hyc.2_Intron|CHRD_uc011brr.1_Splice_Site_p.V71_splice	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor						BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTGCCCATCAGGTGCAAGTG	0.637													G	184101309	A	G	184101309	5	3	73	1	0	0	0	0	0	0	1	0	3372	202	7	3	1365	3	CHRD	3	184101309	Splice_Site	SNP	A	TCGA-BR-8360-01A-11D-2340-08	75581	184101309	13921121	236	49414											
GP5	2814	broad.mit.edu	37	chr3	194118899	194118899	+	Frame_Shift_Del	DEL	C	C	-													cggagatgcgcgccacgtcgCcccccgagcactgcgcggcg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:194118899delC	uc003ftv.1	-	2	144	c.113delG	c.(112-114)GGCfs	p.G38fs		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	38	LRRNT.|Extracellular (Potential).				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				skin(2)|breast(1)	3	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CGCCACGTCGCCCCCCGAGCA	0.692													-	194118899	C	-	194118899	7	5	73	1	0	1	0	1	0	0	0	0	6583	739	26	0	1573	0	GP5	3	194118899	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	10017590	194118899	3903531	237	49415											
MUC4	4585	broad.mit.edu	37	chr3	195488372	195488372	+	Frame_Shift_Del	DEL	A	A	-													cacaggtcattccaaagtggAaaagcatctcctcagggctc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:195488371_195488371GA>G	uc021xjp.1	-	14	14754	c.14598_14598TC>C	c.(14596-14598)ttcfs	p.F4866fs	MUC4_uc003fuz.3_Frame_Shift_Del_p.F464fs|MUC4_uc003fva.3_Frame_Shift_Del_p.F346fs|MUC4_uc003fvb.3_Frame_Shift_Del_p.F382fs|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Frame_Shift_Del_p.F382fs|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Frame_Shift_Del_p.F375fs|MUC4_uc021xjn.1_Frame_Shift_Del_p.F555fs|MUC4_uc021xjo.1_Frame_Shift_Del_p.F346fs|MUC4_uc021xjg.1_Frame_Shift_Del_p.F346fs|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Frame_Shift_Del_p.F430fs|MUC4_uc021xjj.1_Frame_Shift_Del_p.F430fs|MUC4_uc021xjk.1_Frame_Shift_Del_p.F607fs|MUC4_uc021xjl.1_Frame_Shift_Del_p.F346fs|MUC4_uc003fvo.3_Frame_Shift_Del_p.F630fs|MUC4_uc003fvp.3_Frame_Shift_Del_p.F579fs	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1623					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTCCAAAGTGGAAAAGCATCT	0.592													-	195488372	A	-	195488372	7	5	73	1	0	1	0	1	0	0	0	0	9978	246	9	0	1685	0	MUC4	3	195488372	Frame_Shift_Del	DEL	A	TCGA-BR-8360-01A-11D-2340-08	1369473	195488372	2534058	238	49416											
PDE6B	5158	broad.mit.edu	37	chr4	656381	656381	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccatgacatcgaccaccgCggcaccaacaacctgtacca	7	17	0	1	rs140849790		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:656381C>T	uc003gap.2	+	14	1859	c.1806C>T	c.(1804-1806)CGC>CGT	p.R602R	PDE6B_uc003gao.3_Silent_p.R602R|PDE6B_uc011buy.1_Silent_p.R323R|PDE6B_uc011buz.1_Silent_p.R34R	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	602					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						TCGACCACCGCGGCACCAACA	0.577													T	656381	C	T	656381	2	4	73	1	0	0	0	0	0	0	0	1	11646	755	27	1		1	PDE6B	4	656381	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08		656381	190497895	239	49417											
GAK	2580	broad.mit.edu	37	chr4	860221	860221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacgggaaggatggtgggaCggtcacagagtccgaattga	17	6	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:860221C>T	uc003gbm.3	-	22	3173	c.2974G>A	c.(2974-2976)GTC>ATC	p.V992I	GAK_uc003gbn.3_Missense_Mutation_p.V913I|GAK_uc010ibi.2_Missense_Mutation_p.V173I|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.V845I	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	992					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		GATGGTGGGACGGTCACAGAG	0.617													T	860221	C	T	860221	3	4	73	1	0	0	0	0	1	0	0	0	6195	536	19	1	989	1	GAK	4	860221	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	203840	860221	190294055	240	49418											
SPON2	10417	broad.mit.edu	37	chr4	1165659	1165659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagcagcgaagaccactgCgcaggggggcggaacagggg	18	12	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:1165659C>T	uc003gcn.3	-	1	228	c.201G>A	c.(199-201)GCG>GCA	p.A67A	SPON2_uc003gco.3_Silent_p.A67A|SPON2_uc010ibr.2_Silent_p.A67A|SPON2_uc003gcm.1_5'Flank	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	67	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		AAGACCACTGCGCAGGGGGGC	0.687													T	1165659	C	T	1165659	2	4	73	1	0	0	0	0	0	0	0	1	15082	755	27	1		1	SPON2	4	1165659	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	305438	1165659	189988617	241	49419											
FGFR3	2261	broad.mit.edu	37	chr4	1803616	1803616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccggccaaccagacggCggtgctgggcagcgacgtgg	18	13	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:1803616C>T	uc003gdr.3	+	7	1050	c.794C>T	c.(793-795)GCG>GTG	p.A265V	FGFR3_uc003gdu.2_Missense_Mutation_p.A265V|FGFR3_uc003gds.3_Missense_Mutation_p.A265V|FGFR3_uc003gdq.3_Missense_Mutation_p.A265V|FGFR3_uc010icb.1_Missense_Mutation_p.A107V|FGFR3_uc003gdt.1_Missense_Mutation_p.A107V	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	265	Ig-like C2-type 3.|Extracellular (Potential).				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.A265T(2)		urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	AACCAGACGGCGGTGCTGGGC	0.607		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				T	1803616	C	T	1803616	3	4	73	1	0	0	0	0	1	0	0	0	5867	768	27	1	816	1	FGFR3	4	1803616	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	637957	1803616	189350660	242	49420											
WHSC1	7468	broad.mit.edu	37	chr4	1961359	1961359	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaggtgtgtcccgcgggCgagttctgccagaaccagtg	15	13	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:1961359C>T	uc003gdz.3	+	17	3323	c.3147C>T	c.(3145-3147)GGC>GGT	p.G1049G	WHSC1_uc003geb.3_Silent_p.G1049G|WHSC1_uc003gec.3_Silent_p.G1049G|WHSC1_uc003ged.3_Silent_p.G1049G|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Silent_p.G268G|WHSC1_uc011bvh.1_Silent_p.G110G|WHSC1_uc010icf.2_Silent_p.G397G	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	1049	AWS.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GTCCCGCGGGCGAGTTCTGCC	0.567			T	IGH@	MM								T	1961359	C	T	1961359	2	4	73	1	0	0	0	0	0	0	0	1	17359	755	27	1		1	WHSC1	4	1961359	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	157743	1961359	189192917	243	49421											
GRK4	2868	broad.mit.edu	37	chr4	3015460	3015460	+	Frame_Shift_Del	DEL	A	A	-													caggaaaaatgtatgcctgcAaaaagctacaaaaaaaaaga							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:3015459_3015459CA>C	uc003ggn.1	+	7	1100	c.645_645CA>C	c.(643-645)tgcfs	p.C215fs	GRK4_uc003ggo.1_Frame_Shift_Del_p.C215fs|GRK4_uc003ggp.1_Frame_Shift_Del_p.C183fs|GRK4_uc003ggq.1_Frame_Shift_Del_p.C183fs	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	215	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTATGCCTGCAAAAAGCTAC	0.388													-	3015460	A	-	3015460	7	5	73	1	0	1	0	1	0	0	0	0	6791	131	5	0	676	0	GRK4	4	3015460	Frame_Shift_Del	DEL	A	TCGA-BR-8360-01A-11D-2340-08	1054101	3015460	188138816	244	49422											
C4orf50	389197	broad.mit.edu	37	chr4	5981913	5981913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccacaccttggcctggagCtcctcctggaggcgggtggc	14	15	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:5981913C>T	uc003git.1	-	2	246	c.156G>A	c.(154-156)GAG>GAA	p.E52E		NM_207405	NP_997288	Q6ZRC1	CD050_HUMAN	hypothetical protein LOC389197	52	Potential.									pancreas(2)|breast(1)	3						TGGCCTGGAGCTCCTCCTGGA	0.642													T	5981913	C	T	5981913	2	4	73	1	0	0	0	0	0	0	0	1	2276	796	28	2		2	C4orf50	4	5981913	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2966453	5981913	185172363	245	49423											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107634	6107634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaatgtaggccgtgtgccGtcgctgctcctgctcgcgct	13	14	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:6107634G>A	uc003giu.3	-	3	466	c.190C>T	c.(190-192)CGG>TGG	p.R64W	JAKMIP1_uc010idb.1_Missense_Mutation_p.R64W|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.R64W|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.R64W|JAKMIP1_uc010ide.2_Missense_Mutation_p.R64W	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	64	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						GCCGTGTGCCGTCGCTGCTCC	0.622													A	6107634	G	A	6107634	3	1	73	1	0	0	0	0	1	0	0	0	7940	1144	40	1	2456	1	JAKMIP1	4	6107634	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	125721	6107634	185046642	246	49424											
WFS1	7466	broad.mit.edu	37	chr4	6296826	6296826	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaagaagtacgccaagggCgtcatccccagcagcctgtt	10	13	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:6296826C>T	uc003giy.2	+	7	937	c.771C>T	c.(769-771)GGC>GGT	p.G257G	WFS1_uc003gix.2_Silent_p.G257G|WFS1_uc003giz.2_Silent_p.G75G	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	257					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)		ACGCCAAGGGCGTCATCCCCA	0.577													T	6296826	C	T	6296826	2	4	73	1	0	0	0	0	0	0	0	1	17357	755	27	1		1	WFS1	4	6296826	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	189192	6296826	184857450	247	49425											
WFS1	7466	broad.mit.edu	37	chr4	6302499	6302499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccacgcaccacatcaacgCgctcatcttcttcttcatcg	4	19	6	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:6302499C>T	uc003giy.2	+	8	1143	c.977C>T	c.(976-978)GCG>GTG	p.A326V	WFS1_uc003gix.2_Missense_Mutation_p.A326V|WFS1_uc003giz.2_Missense_Mutation_p.A144V	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	326	Helical; (Potential).		A -> V.		endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)		CACATCAACGCGCTCATCTTC	0.542													T	6302499	C	T	6302499	3	4	73	1	0	0	0	0	1	0	0	0	17357	768	27	1	1003	1	WFS1	4	6302499	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	5673	6302499	184851777	248	49426											
BOD1L	259282	broad.mit.edu	37	chr4	13610188	13610189	+	Frame_Shift_Ins	INS	-	-	T													ctctttttgcttaaggctacINSttttttttctaaaactttcc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:13610188_13610189insT	uc003gmz.1	-	8	1824_1825	c.1707_1708insA	c.(1705-1710)AAAGTAfs	p.K569fs	BOD1L_uc010idr.1_5'UTR	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	569_570	Lys-rich.						DNA binding			ovary(5)|breast(1)	6						CTTAAGGCTACTTTTTTTTCTA	0.366													T	13610189	-	T	13610188	7	5	73	1	0	1	1	0	0	0	0	0	1483	565	20	0	7523	0	BOD1L	4	13610188	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	7307689	13610188	177544088	249	49427											
CCKAR	886	broad.mit.edu	37	chr4	26483548	26483548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcgtaggcccgccaggcGttggcgctgaagatgggcat	17	10	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:26483548G>A	uc003gse.1	-	5	1152	c.999C>T	c.(997-999)AAC>AAT	p.N333N		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	333	Helical; Name=6; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			lung(3)|pancreas(1)	4		Breast(46;0.0503)			Ceruletide(DB00403)	CCCGCCAGGCGTTGGCGCTGA	0.617													A	26483548	G	A	26483548	2	1	73	1	0	0	0	0	0	0	0	1	2880	1136	40	1		1	CCKAR	4	26483548	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	12873360	26483548	164670728	250	49428											
PCDH7	5099	broad.mit.edu	37	chr4	30724440	30724440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcaccgtggtgggcgacGtgcccttccagctcaagcca	12	16	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:30724440G>A	uc003gsk.1	+	1	2404	c.1396G>A	c.(1396-1398)GTG>ATG	p.V466M	PCDH7_uc011bxw.1_Missense_Mutation_p.V419M|PCDH7_uc011bxx.1_Missense_Mutation_p.V466M	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	466	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						GGTGGGCGACGTGCCCTTCCA	0.637													A	30724440	G	A	30724440	3	1	73	1	0	0	0	0	1	0	0	0	11516	1145	40	1	1398	1	PCDH7	4	30724440	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	4240892	30724440	160429836	251	49429											
TLR10	81793	broad.mit.edu	37	chr4	38776168	38776168	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatttaaatattggaatttCgtaggataattcgggaaaag	9	2	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:38776168C>T	uc003gti.2	-	2	1423	c.1044G>A	c.(1042-1044)ACG>ACA	p.T348T	TLR10_uc003gtj.2_Silent_p.T348T|TLR10_uc003gtk.2_Silent_p.T348T	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	348	LRR 8.|Extracellular (Potential).				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2						ATTGGAATTTCGTAGGATAAT	0.328													T	38776168	C	T	38776168	2	4	73	1	0	0	0	0	0	0	0	1	15947	871	31	1		1	TLR10	4	38776168	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	8051728	38776168	152378108	252	49430											
SHISA3	152573	broad.mit.edu	37	chr4	42400102	42400102	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgctggcgctttgccttcTccttggctggctgcgctggg	14	13	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:42400102T>C	uc003gwp.2	+	1	247	c.29T>C	c.(28-30)CTC>CCC	p.L10P		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	shisa homolog 3 precursor	10					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				ovary(1)|skin(1)	2						CTTTGCCTTCTCCTTGGCTGG	0.711													C	42400102	T	C	42400102	3	2	73	1	0	0	0	0	1	0	0	0	14281	1551	54	3	31	3	SHISA3	4	42400102	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	3623934	42400102	148754174	253	49431											
ATP8A1	10396	broad.mit.edu	37	chr4	42581864	42581864	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccagtcttttccagaatgCcttcgattccaaatggctga	7	11	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:42581864C>T	uc003gwr.2	-	11	1198	c.966G>A	c.(964-966)AGG>AGA	p.R322R	ATP8A1_uc003gws.2_Silent_p.R322R|ATP8A1_uc011byz.1_Silent_p.R322R	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	322	Extracellular (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)	TTCCAGAATGCCTTCGATTCC	0.338													T	42581864	C	T	42581864	2	4	73	1	0	0	0	0	0	0	0	1	1192	738	26	2		2	ATP8A1	4	42581864	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	181762	42581864	148572412	254	49432											
CNGA1	1259	broad.mit.edu	37	chr4	47939172	47939172	+	Frame_Shift_Del	DEL	T	T	-													gacttctttctcatcaactgTttttttgttggtccacaggt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:47939171_47939171GT>G	uc003gxu.3	-	9	1688	c.1547_1547AC>C	c.(1546-1548)acafs	p.T516fs	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Frame_Shift_Del_p.T447fs	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	447					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CTCATCAACTGTTTTTTTGTT	0.328													-	47939172	T	-	47939172	7	5	73	1	0	1	0	1	0	0	0	0	3596	1725	60	0	737	0	CNGA1	4	47939172	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	5357308	47939172	143215104	255	49433											
KDR	3791	broad.mit.edu	37	chr4	55968171	55968171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcggatagtgaggttcCggttcccatccttcaataca	9	12	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:55968171C>T	uc003has.2	-	15	2461	c.2159G>A	c.(2158-2160)CGG>CAG	p.R720Q	KDR_uc003hat.1_Missense_Mutation_p.R720Q	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	720	Ig-like C2-type 7.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGTGAGGTTCCGGTTCCCATC	0.438			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			T	55968171	C	T	55968171	3	4	73	1	0	0	0	0	1	0	0	0	8139	652	23	1	1975	1	KDR	4	55968171	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	8028999	55968171	135186105	256	49434											
UGT2B28	54490	broad.mit.edu	37	chr4	70148363	70148363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggactccactgcaaacctGccaaacccctacctaaggta	7	15	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:70148363G>A	uc003hej.2	+	2	855	c.853G>A	c.(853-855)GCC>ACC	p.A285T	UGT2B28_uc010ihr.2_Missense_Mutation_p.A285T	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family,	285					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1					Flunitrazepam(DB01544)	CTGCAAACCTGCCAAACCCCT	0.388													A	70148363	G	A	70148363	3	1	73	1	0	0	0	0	1	0	0	0	16957	1319	46	2	859	2	UGT2B28	4	70148363	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	14180192	70148363	121005913	257	49435											
RASSF6	166824	broad.mit.edu	37	chr4	74442417	74442417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaggagcctctgcagtagCggaatgtctgtcttctttag	12	8	4	0	rs147932445	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:74442417C>T	uc003hhd.1	-	9	972	c.849G>A	c.(847-849)CCG>CCA	p.P283P	RASSF6_uc003hhc.1_Silent_p.P251P|RASSF6_uc010iik.1_Silent_p.P217P|RASSF6_uc010iil.1_Silent_p.P239P	NM_201431	NP_958834	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family 6	283	Ras-associating.				apoptosis|signal transduction		protein binding			pancreas(2)	2	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCTGCAGTAGCGGAATGTCTG	0.403													T	74442417	C	T	74442417	2	4	73	1	0	0	0	0	0	0	0	1	13090	755	27	1		1	RASSF6	4	74442417	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	4294054	74442417	116711859	258	49436											
PTPN13	5783	broad.mit.edu	37	chr4	87691300	87691301	+	Frame_Shift_Del	DEL	TT	TT	-													tgctccagaagtattcttgcTtctctgcagacctccacctg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:87691299_87691300CTT>C	uc003hpz.3	+	29	5230_5231	c.4750_4751CTT>C	c.(4750-4752)cttfs	p.L1584fs	PTPN13_uc003hpy.3_Frame_Shift_Del_p.L1589fs|PTPN13_uc003hqa.3_Frame_Shift_Del_p.L1565fs|PTPN13_uc003hqb.3_Frame_Shift_Del_p.L1393fs|PTPN13_uc003hqc.1_5'UTR	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	1584	PDZ 3.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGTATTCTTGCTTCTCTGCAGA	0.416													-	87691301	TT	-	87691300	7	5	73	1	0	1	0	1	0	0	0	0	12782	1609	56	0	4880	0	PTPN13	4	87691300	Frame_Shift_Del	DEL	TT	TCGA-BR-8360-01A-11D-2340-08	13248883	87691300	103462976	259	49437											
PDLIM5	10611	broad.mit.edu	37	chr4	95496845	95496845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacttccacaaacaacatgGcctacaataaggcaccacgg	6	14	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:95496845G>A	uc003hti.2	+	5	521	c.370G>A	c.(370-372)GCC>ACC	p.A124T	PDLIM5_uc003htf.2_Intron|PDLIM5_uc003htg.2_Intron|PDLIM5_uc011cdx.1_Intron|PDLIM5_uc003hth.2_Intron|PDLIM5_uc003htj.2_Intron|PDLIM5_uc003htk.2_Intron|PDLIM5_uc011cdy.1_Missense_Mutation_p.A2T	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	124					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AAACAACATGGCCTACAATAA	0.463													A	95496845	G	A	95496845	3	1	73	1	0	0	0	0	1	0	0	0	11683	1203	42	2	384	2	PDLIM5	4	95496845	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	7805545	95496845	95657431	260	49438											
MANBA	4126	broad.mit.edu	37	chr4	103553381	103553381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaaccaaacaaagggagCgacagctgaggtctccaggt	11	11	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:103553381C>T	uc003hwg.2	-	17	2573	c.2473G>A	c.(2473-2475)GCT>ACT	p.A825T	MANBA_uc011ces.1_Missense_Mutation_p.A768T	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor	825					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		ACAAAGGGAGCGACAGCTGAG	0.413													T	103553381	C	T	103553381	3	4	73	1	0	0	0	0	1	0	0	0	9219	768	27	1	170	1	MANBA	4	103553381	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	8056536	103553381	87600895	261	49439											
TET2	54790	broad.mit.edu	37	chr4	106157193	106157193	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaacttatgtccccagtGttgaaacagcacttgaatca	7	9	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:106157193G>T	uc003hxk.2	+	3	2480	c.2094G>T	c.(2092-2094)GTG>GTT	p.V698V	TET2_uc011cez.1_Silent_p.V719V|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Silent_p.V698V|TET2_uc003hxi.1_Silent_p.V698V	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	698	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TGTCCCCAGTGTTGAAACAGC	0.418			Mis N|F		MDS								T	106157193	G	T	106157193	2	4	73	1	0	0	0	0	0	0	0	1	15767	1364	48	5		5	TET2	4	106157193	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2603812	106157193	84997083	262	49440											
INTS12	57117	broad.mit.edu	37	chr4	106621122	106621122	+	Frame_Shift_Del	DEL	A	A	-													gcaagaaacctagtgctttcAaaaaaatgggatcaagttcc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:106621121_106621121CA>C	uc003hxw.3	-	2	300	c.42_42TG>G	c.(40-42)ttgfs	p.L14fs	INTS12_uc010ilr.3_Frame_Shift_Del_p.L14fs	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	Homo sapiens integrator complex subunit 12 (INTS12), transcript variant 1, mRNA.	14					snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		CTAGTGCTTTCAAAAAAATGG	0.388													-	106621122	A	-	106621122	7	5	73	1	0	1	0	1	0	0	0	0	7777	131	5	0	1371	0	INTS12	4	106621122	Frame_Shift_Del	DEL	A	TCGA-BR-8360-01A-11D-2340-08	463929	106621122	84533154	263	49441											
TRAM1L1	133022	broad.mit.edu	37	chr4	118005713	118005713	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcaggattccgattctgCgatccagccaggtgaaaccc	10	13	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:118005713C>T	uc003ibv.3	-	1	1024	c.837G>A	c.(835-837)TCG>TCA	p.S279S		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like	279	Lumenal (Potential).|TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.S279S(1)		central_nervous_system(1)	1						TCCGATTCTGCGATCCAGCCA	0.453													T	118005713	C	T	118005713	2	4	73	1	0	0	0	0	0	0	0	1	16449	755	27	1		1	TRAM1L1	4	118005713	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	11384591	118005713	73148563	264	49442											
FAT4	79633	broad.mit.edu	37	chr4	126336826	126336826	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcaacagatcgaggcagCacacccagaactgatacctc	9	14	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:126336826C>T	uc003ifj.3	+	5	6708	c.6708C>T	c.(6706-6708)AGC>AGT	p.S2236S	FAT4_uc011cgp.1_Silent_p.S534S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2236	Cadherin 21.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ATCGAGGCAGCACACCCAGAA	0.448													T	126336826	C	T	126336826	2	4	73	1	0	0	0	0	0	0	0	1	5692	709	25	2		2	FAT4	4	126336826	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	8331113	126336826	64817450	265	49443											
INTU	27152	broad.mit.edu	37	chr4	128632225	128632225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcagtgttgtctttccattCgtgcagttttccaacagaca	7	10	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:128632225C>T	uc003ifk.1	+	14	2597	c.2527C>T	c.(2527-2529)CGT>TGT	p.R843C	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	843										ovary(1)	1						TCTTTCCATTCGTGCAGTTTT	0.413													T	128632225	C	T	128632225	3	4	73	1	0	0	0	0	1	0	0	0	7786	884	31	1	2581	1	INTU	4	128632225	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2295399	128632225	62522051	266	49444											
CLGN	1047	broad.mit.edu	37	chr4	141327187	141327188	+	Frame_Shift_Del	DEL	CT	CT	-													tctagattttaataccagtcCtctgtcaccaggtacctggt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:141327187_141327188delCT	uc011chi.1	-	6	545_546	c.327_328delAG	c.(325-330)AGAGGAfs	p.R109fs	CLGN_uc003iii.2_Frame_Shift_Del_p.R109fs	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	109_110	Lumenal (Potential).				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)					AATACCAGTCCTCTGTCACCAG	0.337													-	141327188	CT	-	141327187	7	5	73	1	0	1	0	1	0	0	0	0	3524	690	24	0	1548	0	CLGN	4	141327187	Frame_Shift_Del	DEL	CT	TCGA-BR-8360-01A-11D-2340-08	12694962	141327187	49827089	267	49445											
SMARCA5	8467	broad.mit.edu	37	chr4	144471250	144471250	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaagaaacgaggaccaaAgccttcagtaagtattcatg	9	7	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:144471250A>T	uc003ijg.2	+	23	3548	c.3086A>T	c.(3085-3087)AAG>ATG	p.K1029M		NM_003601	NP_003592	O60264	SMCA5_HUMAN	SWI/SNF-related matrix-associated	1029					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding			skin(1)	1	all_hematologic(180;0.158)					CGAGGACCAAAGCCTTCAGTA	0.358													T	144471250	A	T	144471250	3	4	73	1	0	0	0	0	1	0	0	0	14771	72	3	5	3176	5	SMARCA5	4	144471250	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	3144063	144471250	46683026	268	49446											
ZNF827	152485	broad.mit.edu	37	chr4	146824292	146824292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccataggatgcttctgacGgagtctctgaagagtttcca	10	11	2	3	rs149206051		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:146824292G>A	uc003ikn.2	-	2	167	c.119C>T	c.(118-120)CCG>CTG	p.P40L	ZNF827_uc003ikm.2_Missense_Mutation_p.P40L|ZNF827_uc010iox.2_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					TGCTTCTGACGGAGTCTCTGA	0.532													A	146824292	G	A	146824292	3	1	73	1	0	0	0	0	1	0	0	0	18177	1116	39	1	3162	1	ZNF827	4	146824292	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2353042	146824292	44329984	269	49447											
ARHGAP10	79658	broad.mit.edu	37	chr4	148744110	148744110	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaacagagagaaattatggTgagttgagaggggtgtaaat	16	1	0	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:148744110T>C	uc003ilf.2	+	3	312	c.312_splice	c.e3+2	p.M104_splice	ARHGAP10_uc003ile.1_Splice_Site_p.M104_splice	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10						apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			skin(2)|pancreas(1)|lung(1)	4	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GAAATTATGGTGAGTTGAGAG	0.383													C	148744110	T	C	148744110	5	2	73	1	0	0	0	0	0	0	1	0	862	1710	59	3	324	3	ARHGAP10	4	148744110	Splice_Site	SNP	T	TCGA-BR-8360-01A-11D-2340-08	1919818	148744110	42410166	270	49448											
FBXW7	55294	broad.mit.edu	37	chr4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgaagatgcatacaacGcacagtggaagtatgcccat	9	9	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:153249385G>A	uc003ims.2	-	9	1542	c.1393C>T	c.(1393-1395)CGT>TGT	p.R465C	FBXW7_uc011cii.1_Missense_Mutation_p.R465C|FBXW7_uc003imt.2_Missense_Mutation_p.R465C|FBXW7_uc011cih.1_Missense_Mutation_p.R289C|FBXW7_uc003imq.2_Missense_Mutation_p.R385C|FBXW7_uc003imr.2_Missense_Mutation_p.R347C	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	465	WD 3.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in a acute lymphoblastic leukemia cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R465C(52)|p.R465H(36)|p.R465L(2)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413			Mis|N|D|F		colorectal|endometrial|T-ALL								A	153249385	G	A	153249385	3	1	73	1	0	0	0	0	1	0	0	0	5769	1087	38	1	746	1	FBXW7	4	153249385	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	4505275	153249385	37904891	271	49449											
FHDC1	85462	broad.mit.edu	37	chr4	153881743	153881743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagttaaaagcgtttagtggCgacgtgtcgaagctgtctct	12	7	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:153881743C>T	uc003inf.2	+	4	765	c.690C>T	c.(688-690)GGC>GGT	p.G230G		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	230	FH2.				actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					CGTTTAGTGGCGACGTGTCGA	0.373													T	153881743	C	T	153881743	2	4	73	1	0	0	0	0	0	0	0	1	5876	755	27	1		1	FHDC1	4	153881743	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	632358	153881743	37272533	272	49450											
DCHS2	54798	broad.mit.edu	37	chr4	155312366	155312366	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatacacctcatatacacaGgcatcagtactttcaaactg	4	12	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:155312366G>T	uc003inw.2	-	1	84	c.84C>A	c.(82-84)GCC>GCA	p.A28A	DCHS2_uc003inx.2_Intron	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	28					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CATATACACAGGCATCAGTAC	0.199													T	155312366	G	T	155312366	2	4	73	1	0	0	0	0	0	0	0	1	4288	987	35	5		5	DCHS2	4	155312366	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1430623	155312366	35841910	273	49451											
HAND2	9464	broad.mit.edu	37	chr4	174450000	174450000	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtccatgaggtaggcgatGtagctggtggccaggcgcag	18	8	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:174450000G>A	uc003ith.1	-	1	1379	c.441C>T	c.(439-441)TAC>TAT	p.Y147Y	NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Missense_Mutation_p.H113Y|HAND2_uc010ire.1_Silent_p.Y147Y	NM_021973	NP_068808	P61296	HAND2_HUMAN	basic helix-loop-helix transcription factor	147	Helix-loop-helix motif.				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			skin(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GGTAGGCGATGTAGCTGGTGG	0.592													A	174450000	G	A	174450000	2	1	73	1	0	0	0	0	0	0	0	1	6950	1372	48	4		4	HAND2	4	174450000	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	19137634	174450000	16704276	274	49452											
ADAM29	11086	broad.mit.edu	37	chr4	175898771	175898772	+	Frame_Shift_Ins	INS	-	-	A													ttgtctttatcgactttgtaINSaaaaaagtaaaccaataaaa					rs34732497		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:175898770_175898771T>TA	uc003iuc.3	+	4	2764_2765	c.2094_2095T>TA	c.(2092-2097)tgtaaafs	p.C698fs	ADAM29_uc003iud.3_Frame_Shift_Ins_p.C698fs|ADAM29_uc010irr.3_Frame_Shift_Ins_p.C698fs|ADAM29_uc011cki.2_Frame_Shift_Ins_p.C698fs|ADAM29_uc021xuo.1_Frame_Shift_Ins_p.C698fs	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	698					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		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)		ATCGACTTTGTAAAAAAAGTAA	0.351													A	175898772	-	A	175898771	7	5	73	1	0	1	1	0	0	0	0	0	247	363	13	0	2097	0	ADAM29	4	175898771	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	1448771	175898771	15255505	275	49453											
C4orf41	60684	broad.mit.edu	37	chr4	184589196	184589196	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagggctgcagctttatgCaatgcatgtgaactctcagg	12	8	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:184589196C>T	uc003ivx.2	+	5	662	c.486C>T	c.(484-486)TGC>TGT	p.C162C	C4orf41_uc003ivw.2_Silent_p.C162C|C4orf41_uc010isc.2_Intron	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	162											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		CAGCTTTATGCAATGCATGTG	0.383													T	184589196	C	T	184589196	2	4	73	1	0	0	0	0	0	0	0	1	2270	718	25	2		2	C4orf41	4	184589196	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	8690425	184589196	6565080	276	49454											
IRF2	3660	broad.mit.edu	37	chr4	185340707	185340708	+	Frame_Shift_Ins	INS	-	-	A													gcatgcatccaggggatctgINSaaaaatcttcttttcctgaa							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:185340707_185340708insA	uc003iwf.3	-	3	302_303	c.102_103insT	c.(100-105)TTTCAGfs	p.F34fs		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	34_35	IRF tryptophan pentad repeat.				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CAGGGGATCTGAAAAATCTTCT	0.426													A	185340708	-	A	185340707	7	5	73	1	0	1	1	0	0	0	0	0	7828	1299	45	0	974	0	IRF2	4	185340707	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	751511	185340707	5813569	277	49455	191	2									
IRF2	3660	broad.mit.edu	37	chr4	185340708	185340709	+	Frame_Shift_Ins	INS	-	-	A													catgcatccaggggatctgaINSaaaatcttcttttcctgaaa							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:185340707_185340708G>GA	uc003iwf.4	-	2	302_303	c.102_103C>TC	c.(100-105)tttcagfs	p.F34fs		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	34					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CAGGGGATCTGAAAAATCTTCT	0.426													A	185340709	-	A	185340708	7	5	73	1	0	1	1	0	0	0	0	0	7828	243	9	0	975	0	IRF2	4	185340708	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	1	185340708	5813568	278	49456	191	2									
SLC12A7	10723	broad.mit.edu	37	chr5	1075484	1075484	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggggggctgacagcgcttAcccgcggtactcgatgtact	14	11	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:1075484A>G	uc003jbu.2	-	15	2033	c.1967_splice	c.e15+1	p.G656_splice		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride						potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GACAGCGCTTACCCGCGGTAC	0.657													G	1075484	A	G	1075484	5	3	73	1	0	0	0	0	0	0	1	0	14388	405	14	3	1322	3	SLC12A7	5	1075484	Splice_Site	SNP	A	TCGA-BR-8360-01A-11D-2340-08		1075484	179839776	279	49457											
IRX2	153572	broad.mit.edu	37	chr5	2749021	2749021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccctcctcgtcgtcgtcCtcgtcgtcctccaggtcgtc	9	19	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:2749021C>T	uc003jda.2	-	3	1043	c.801G>A	c.(799-801)GAG>GAA	p.E267E	IRX2_uc003jdb.2_Silent_p.E267E	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	267						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		CGTCGTCGTCCTCGTCGTCCT	0.667													T	2749021	C	T	2749021	2	4	73	1	0	0	0	0	0	0	0	1	7844	680	24	4		4	IRX2	5	2749021	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1673537	2749021	178166239	280	49458											
ADAMTS16	170690	broad.mit.edu	37	chr5	5232558	5232558	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccactggtcggactggtcTtcttggtccccatgctccag	12	14	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:5232558T>G	uc003jdl.2	+	12	1917	c.1779T>G	c.(1777-1779)TCT>TCG	p.S593S	ADAMTS16_uc003jdk.1_Silent_p.S593S|ADAMTS16_uc010itk.1_5'Flank	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	593	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CGGACTGGTCTTCTTGGTCCC	0.537													G	5232558	T	G	5232558	2	3	73	1	0	0	0	0	0	0	0	1	261	1596	56	5		5	ADAMTS16	5	5232558	Silent	SNP	T	TCGA-BR-8360-01A-11D-2340-08	2483537	5232558	175682702	281	49459											
ADCY2	108	broad.mit.edu	37	chr5	7520977	7520977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttagcgtctgcctgtctGcaacaccgggaggcaaggag	14	11	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:7520977G>A	uc003jdz.1	+	3	602	c.535G>A	c.(535-537)GCA>ACA	p.A179T		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	179	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						CTGCCTGTCTGCAACACCGGG	0.607													A	7520977	G	A	7520977	3	1	73	1	0	0	0	0	1	0	0	0	294	1319	46	2	545	2	ADCY2	5	7520977	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2288419	7520977	173394283	282	49460											
MTRR	4552	broad.mit.edu	37	chr5	7873500	7873500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtagtatgacctaaaaacCgaaacagctcctcttgttgt	7	9	1	1	rs138612190	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:7873500C>T	uc003jed.2	+	3	255	c.225C>T	c.(223-225)ACC>ACT	p.T75T	MTRR_uc010itn.1_Intron|MTRR_uc003jee.3_Silent_p.T48T|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_Intron|MTRR_uc010ito.2_RNA	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	methionine synthase reductase isoform 2	75	Flavodoxin-like.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	ACCTAAAAACCGAAACAGCTC	0.448													T	7873500	C	T	7873500	2	4	73	1	0	0	0	0	0	0	0	1	9961	639	23	1		1	MTRR	5	7873500	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	352523	7873500	173041760	283	49461											
DNAH5	1767	broad.mit.edu	37	chr5	13781052	13781052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcatttccctgaggagtaCgaatgacacgagagatctgt	13	8	1	3	rs140975593		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:13781052C>T	uc003jfd.2	-	53	8879	c.8837G>A	c.(8836-8838)CGT>CAT	p.R2946H		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2946	AAA 4 (By similarity).				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)					CTGAGGAGTACGAATGACACG	0.433									Kartagener_syndrome				T	13781052	C	T	13781052	3	4	73	1	0	0	0	0	1	0	0	0	4604	536	19	1	5145	1	DNAH5	5	13781052	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	5907552	13781052	167134208	284	49462											
TRIO	7204	broad.mit.edu	37	chr5	14297342	14297342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagcaccttgctggacatGtcctccattttccaccagaa	8	14	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:14297342G>A	uc003jff.2	+	7	1344	c.1338G>A	c.(1336-1338)ATG>ATA	p.M446I	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.M397I|TRIO_uc003jfh.1_Missense_Mutation_p.M95I	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	446					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					TGCTGGACATGTCCTCCATTT	0.562													A	14297342	G	A	14297342	3	1	73	1	0	0	0	0	1	0	0	0	16549	1377	48	4	1364	4	TRIO	5	14297342	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	516290	14297342	166617918	285	49463											
FBXL7	23194	broad.mit.edu	37	chr5	15936821	15936821	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgagcgtcagcgactgCcgcttcgtcagcgacttcgg	14	13	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:15936821C>T	uc003jfn.1	+	4	1483	c.1002C>T	c.(1000-1002)TGC>TGT	p.C334C		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	334	LRR 7.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						TCAGCGACTGCCGCTTCGTCA	0.682													T	15936821	C	T	15936821	2	4	73	1	0	0	0	0	0	0	0	1	5724	747	26	2		2	FBXL7	5	15936821	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1639479	15936821	164978439	286	49464											
MARCH11	441061	broad.mit.edu	37	chr5	16067654	16067654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcttcatggggcctcatccGattgaacaggtgcaataaca	10	10	3	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:16067654G>A	uc003jfo.2	-	4	1348	c.1135C>T	c.(1135-1137)CGG>TGG	p.R379W	MARCH11_uc010itw.1_Missense_Mutation_p.R135W	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	379						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding				0						GGCCTCATCCGATTGAACAGG	0.478													A	16067654	G	A	16067654	3	1	73	1	0	0	0	0	1	0	0	0	9300	1057	37	1	77	1	MARCH11	5	16067654	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	130833	16067654	164847606	287	49465											
CDH10	1008	broad.mit.edu	37	chr5	24491847	24491847	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctgctctgaattgggtaatCattgtctgatatcaccacag	9	9	4	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:24491847C>A	uc003jgr.1	-	11	2046	c.1714G>T	c.(1714-1716)GAT>TAT	p.D572Y	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	572	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		ATTGGGTAATCATTGTCTGAT	0.433										HNSCC(23;0.051)			A	24491847	C	A	24491847	3	1	73	1	0	0	0	0	1	0	0	0	3096	826	29	5	660	5	CDH10	5	24491847	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	8424193	24491847	156423413	288	49466											
PDZD2	23037	broad.mit.edu	37	chr5	32089364	32089364	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcacagcggctccatgTagccgaccacgaggaccctg	12	14	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:32089364T>C	uc003jhl.2	+	20	6198	c.5810T>C	c.(5809-5811)GTA>GCA	p.V1937A	PDZD2_uc003jhm.2_Missense_Mutation_p.V1937A	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1937					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CGGCTCCATGTAGCCGACCAC	0.597													C	32089364	T	C	32089364	3	2	73	1	0	0	0	0	1	0	0	0	11701	1638	57	3	5884	3	PDZD2	5	32089364	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	7597517	32089364	148825896	289	49467											
OSMR	9180	broad.mit.edu	37	chr5	38923329	38923329	+	Frame_Shift_Del	DEL	A	A	-													ggattgcttgtttattagagAaaaaaacaggatactctcag							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:38923328_38923328GA>G	uc003jln.2	+	12	2244	c.1842_1842GA>G	c.(1840-1842)gagfs	p.E614fs	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	614	Fibronectin type-III 3.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GTTTATTAGAGAAAAAAACAG	0.368													-	38923329	A	-	38923329	7	5	73	1	0	1	0	1	0	0	0	0	11292	247	9	0	1927	0	OSMR	5	38923329	Frame_Shift_Del	DEL	A	TCGA-BR-8360-01A-11D-2340-08	6833965	38923329	141991931	290	49468											
RICTOR	253260	broad.mit.edu	37	chr5	38958851	38958851	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgtagctgggtcactaacAactcaattccccaattatta	5	11	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:38958851A>G	uc003jlp.2	-	23	2285	c.2261T>C	c.(2260-2262)TTG>TCG	p.L754S	RICTOR_uc003jlo.2_Missense_Mutation_p.L754S|RICTOR_uc010ivf.2_Missense_Mutation_p.L469S	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	754					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					GGTCACTAACAACTCAATTCC	0.343													G	38958851	A	G	38958851	3	3	73	1	0	0	0	0	1	0	0	0	13358	131	5	3	2929	3	RICTOR	5	38958851	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	35522	38958851	141956409	291	49469											
HSPB3	8988	broad.mit.edu	37	chr5	53751772	53751772	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggaaaaccagggcagcGcagtctcctccagtggactc	12	13	1	1	rs139714539		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:53751772G>A	uc003jph.1	+	1	328	c.153G>A	c.(151-153)GCG>GCA	p.A51A		NM_006308	NP_006299	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	51					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus					0		Lung NSC(810;0.00104)				CCAGGGCAGCGCAGTCTCCTC	0.562													A	53751772	G	A	53751772	2	1	73	1	0	0	0	0	0	0	0	1	7421	1074	38	1		1	HSPB3	5	53751772	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	14792921	53751772	127163488	292	49470											
MAP3K1	4214	broad.mit.edu	37	chr5	56177584	56177584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactcacttcaccaggatgCgtcgccgtttgatggctatt	9	13	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:56177584C>T	uc003jqw.3	+	14	3058	c.2557C>T	c.(2557-2559)CGT>TGT	p.R853C		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	853					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CACCAGGATGCGTCGCCGTTT	0.468													T	56177584	C	T	56177584	3	4	73	1	0	0	0	0	1	0	0	0	9243	768	27	1	2611	1	MAP3K1	5	56177584	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2425812	56177584	124737676	293	49471											
IPO11	51194	broad.mit.edu	37	chr5	61770245	61770245	+	Splice_Site	DEL	T	T	-													aataatattcttttctagggTtttttacatggaatatttga							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:61770244_61770244GT>G	uc011cqr.2	+	8	959	c.829_splice	c.e8-1	p.G277_splice	IPO11_uc003jtc.3_Splice_Site_p.G237_splice	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	237						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CTTTTCTAGGGTTTTTTACAT	0.274													-	61770245	T	-	61770245	8	5	73	1	0	1	0	1	0	0	1	0	7793	1712	60	0	861	0	IPO11	5	61770245	Splice_Site	DEL	T	TCGA-BR-8360-01A-11D-2340-08	5592661	61770245	119145015	294	49472											
MAP1B	4131	broad.mit.edu	37	chr5	71495988	71495988	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggaagtctaagcccttggCagcttcaccaaaaccagcgg	11	12	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:71495988C>A	uc003kbw.3	+	5	7047	c.6806C>A	c.(6805-6807)GCA>GAA	p.A2269E	MAP1B_uc010iyw.1_Missense_Mutation_p.A2286E|MAP1B_uc010iyx.1_Missense_Mutation_p.A2143E|MAP1B_uc010iyy.1_Missense_Mutation_p.A2143E	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2269						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGCCCTTGGCAGCTTCACCA	0.453													A	71495988	C	A	71495988	3	1	73	1	0	0	0	0	1	0	0	0	9228	710	25	5	6824	5	MAP1B	5	71495988	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	9725743	71495988	109419272	295	49473											
TMEM171	134285	broad.mit.edu	37	chr5	72424240	72424240	+	Frame_Shift_Del	DEL	C	C	-													actcggtaataatatttccaCcccctccaccaccttacttt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:72424239_72424239AC>A	uc003kcm.2	+	2	867	c.663_663AC>A	c.(661-663)ccafs	p.P221fs	TMEM171_uc003kcn.3_Frame_Shift_Del_p.P221fs	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	Homo sapiens transmembrane protein 171 (TMEM171), transcript variant 1, mRNA.	221						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		TAATATTTCCACCCCCTCCAC	0.403													-	72424240	C	-	72424240	7	5	73	1	0	1	0	1	0	0	0	0	16085	507	18	0	670	0	TMEM171	5	72424240	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	928252	72424240	108491020	296	49474											
F2RL2	2151	broad.mit.edu	37	chr5	75913544	75913544	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taagccatcagtgttgttgtAgtagtagttagcatggtgaa	12	4	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:75913544A>T	uc003kem.2	-	2	1173	c.988T>A	c.(988-990)TAC>AAC	p.Y330N	IQGAP2_uc003kek.2_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron|F2RL2_uc011csw.1_Missense_Mutation_p.Y308N	NM_004101	NP_004092	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	330	Extracellular (Potential).				platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			skin(2)|ovary(1)	3		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		GTGTTGTTGTAGTAGTAGTTA	0.348													T	75913544	A	T	75913544	3	4	73	1	0	0	0	0	1	0	0	0	5345	420	15	5	140	5	F2RL2	5	75913544	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	3489304	75913544	105001716	297	49475											
CMYA5	202333	broad.mit.edu	37	chr5	79027051	79027051	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataatcaatgaggcatcccaAttcaaaccaaaaggtatttc	5	9	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:79027051A>G	uc003kgc.2	+	2	2535	c.2463A>G	c.(2461-2463)CAA>CAG	p.Q821Q		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	821						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGGCATCCCAATTCAAACCAA	0.433													G	79027051	A	G	79027051	2	3	73	1	0	0	0	0	0	0	0	1	3590	98	4	3		3	CMYA5	5	79027051	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	3113507	79027051	101888209	298	49476											
THBS4	7060	broad.mit.edu	37	chr5	79355673	79355673	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagagatggcttccagtgtgGgccctgccccgagggctaca	14	12	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:79355673G>T	uc003kgh.2	+	8	1255	c.932G>T	c.(931-933)GGG>GTG	p.G311V		NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	311	EGF-like 1.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TTCCAGTGTGGGCCCTGCCCC	0.562													T	79355673	G	T	79355673	3	4	73	1	0	0	0	0	1	0	0	0	15853	1232	43	5	958	5	THBS4	5	79355673	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	328622	79355673	101559587	299	49477											
RASGRF2	5924	broad.mit.edu	37	chr5	80363869	80363869	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttatgcagacattttgatTgagagggaagtattaatgca	11	3	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:80363869T>C	uc003kha.1	+	3	414	c.414T>C	c.(412-414)ATT>ATC	p.I138I	RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_5'Flank	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	138					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACATTTTGATTGAGAGGGAAG	0.328													C	80363869	T	C	80363869	2	2	73	1	0	0	0	0	0	0	0	1	13073	1800	63	3		3	RASGRF2	5	80363869	Silent	SNP	T	TCGA-BR-8360-01A-11D-2340-08	1008196	80363869	100551391	300	49478											
RASGRF2	5924	broad.mit.edu	37	chr5	80382675	80382675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaatgcacgatgaagtcagCgacactgaaaacataaggaa	10	7	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:80382675C>T	uc003kha.1	+	9	1293	c.1293C>T	c.(1291-1293)AGC>AGT	p.S431S	RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Silent_p.S259S	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	431					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATGAAGTCAGCGACACTGAAA	0.468													T	80382675	C	T	80382675	2	4	73	1	0	0	0	0	0	0	0	1	13073	767	27	1		1	RASGRF2	5	80382675	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	18806	80382675	100532585	301	49479											
GPR98	84059	broad.mit.edu	37	chr5	90004680	90004680	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctggtgaatttaacttaCgttggacttaccatggctgc	9	9	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:90004680C>T	uc003kju.2	+	39	8874	c.8778C>T	c.(8776-8778)TAC>TAT	p.Y2926Y	GPR98_uc003kjt.2_Silent_p.Y632Y|GPR98_uc003kjv.2_Silent_p.Y526Y	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2926	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTTAACTTACGTTGGACTTA	0.343													T	90004680	C	T	90004680	2	4	73	1	0	0	0	0	0	0	0	1	6721	547	19	1		1	GPR98	5	90004680	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	9622005	90004680	90910580	302	49480											
NR2F1	7025	broad.mit.edu	37	chr5	92921054	92921056	+	In_Frame_Del	DEL	TTC	TTC	-													cctgcgagggctgcaaaagtTtcttcaagaggagcgtccgc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:92921054_92921056delTTC	uc003kkj.2	+	1	2012_2014	c.325_327delTTC	c.(325-327)TTCdel	p.F110del		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	110	Nuclear receptor.				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CTGCAAAAGTTTCTTCAAGAGGA	0.596													-	92921056	TTC	-	92921054	7	5	73	1	0	1	0	1	0	0	0	0	10627	1841	64	0	327	0	NR2F1	5	92921054	In_Frame_Del	DEL	TTC	TCGA-BR-8360-01A-11D-2340-08	2916374	92921054	87994206	303	49481											
PPIP5K2	23262	broad.mit.edu	37	chr5	102537309	102537310	+	Frame_Shift_Ins	INS	-	-	A													aacagaaacgcatgaacacaINSaaaaaaacactgggaaaaag							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:102537308_102537309C>CA	uc003kod.4	+	30	4224_4225	c.3705_3706C>CA	c.(3703-3708)cacaaafs	p.H1235fs	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Frame_Shift_Ins_p.H1214fs|PPIP5K2_uc003kof.3_Frame_Shift_Ins_p.H417fs	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	1235					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CGCATGAACACAAAAAAAACAC	0.317													A	102537310	-	A	102537309	7	5	73	1	0	1	1	0	0	0	0	0	12333	131	5	0	3757	0	PPIP5K2	5	102537309	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	9616255	102537309	78377951	304	49482											
KCNN2	3781	broad.mit.edu	37	chr5	113798824	113798824	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataacttttctctccattggTtatggtgacatggtacctaa	7	8	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:113798824T>G	uc003kqo.2	+	4	1537	c.1080T>G	c.(1078-1080)GGT>GGG	p.G360G	KCNN2_uc003kqp.2_Silent_p.G12G|KCNN2_uc010jcg.2_RNA|uc003kqq.1_Intron	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	360						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TCTCCATTGGTTATGGTGACA	0.378													G	113798824	T	G	113798824	2	3	73	1	0	0	0	0	0	0	0	1	8079	1712	60	5		5	KCNN2	5	113798824	Silent	SNP	T	TCGA-BR-8360-01A-11D-2340-08	11261515	113798824	67116436	305	49483											
SEMA6A	57556	broad.mit.edu	37	chr5	115782765	115782765	+	Frame_Shift_Del	DEL	G	G	-													gcctcccgctgtggaactttGgggggcaggctgtccaggtt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:115782764_115782764TG>T	uc003krx.4	-	19	3398	c.2689_2689CA>A	c.(2689-2691)aaafs	p.K897fs	SEMA6A_uc010jck.3_Frame_Shift_Del_p.K880fs|SEMA6A_uc011cwe.2_Frame_Shift_Del_p.K259fs|SEMA6A_uc003krv.4_Frame_Shift_Del_p.K307fs|SEMA6A_uc003krw.4_Frame_Shift_Del_p.K357fs|SEMA6A_uc010jcj.3_Frame_Shift_Del_p.K424fs	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	880					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	p.Q897H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGG	0.607													-	115782765	G	-	115782765	7	5	73	1	0	1	0	1	0	0	0	0	14039	1335	47	0	459	0	SEMA6A	5	115782765	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	1983941	115782765	65132495	306	49484											
MEGF10	84466	broad.mit.edu	37	chr5	126746114	126746114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctgttgggacctatggCgttctctgtgctgagacctg	13	10	1	1	rs145870973	by1000genomes	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:126746114C>T	uc003kuh.3	+	10	1313	c.951C>T	c.(949-951)GGC>GGT	p.G317G	MEGF10_uc010jdc.1_Silent_p.G317G|MEGF10_uc010jdd.1_Silent_p.G317G|MEGF10_uc003kui.3_Silent_p.G317G	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	317	Extracellular (Potential).|EGF-like 6.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GGACCTATGGCGTTCTCTGTG	0.527													T	126746114	C	T	126746114	2	4	73	1	0	0	0	0	0	0	0	1	9460	755	27	1		1	MEGF10	5	126746114	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	10963349	126746114	54169146	307	49485											
CHSY3	337876	broad.mit.edu	37	chr5	129244011	129244011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtggaagtaggaagatgCgttcgccgttttggtgggac	17	5	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:129244011C>T	uc003kvd.2	+	2	1044	c.1044C>T	c.(1042-1044)TGC>TGT	p.C348C		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	348	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TAGGAAGATGCGTTCGCCGTT	0.438													T	129244011	C	T	129244011	2	4	73	1	0	0	0	0	0	0	0	1	3413	776	27	1		1	CHSY3	5	129244011	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2497897	129244011	51671249	308	49486											
SEC24A	10802	broad.mit.edu	37	chr5	134059335	134059335	+	Frame_Shift_Del	DEL	T	T	-													ggcttagagagcagagaccaTttttcccaatactttatgta					rs143698448	by1000genomes	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:134059334_134059334AT>A	uc003kzs.3	+	21	3433	c.3141_3141AT>A	c.(3139-3141)ccafs	p.P1047fs	SEC24A_uc011cxu.2_Frame_Shift_Del_p.P811fs	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	1047					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCAGAGACCATTTTTCCCAA	0.373													-	134059335	T	-	134059335	7	5	73	1	0	1	0	1	0	0	0	0	13994	1493	52	0	3228	0	SEC24A	5	134059335	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	4815324	134059335	46855925	309	49487											
FAM13B	51306	broad.mit.edu	37	chr5	137284728	137284728	+	Frame_Shift_Del	DEL	T	T	-													agggttgcttctttagatggTtttttctccttctgaatgac							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:137284727_137284727GT>G	uc003lbz.2	-	16	2545	c.2011_2011AC>C	c.(2011-2013)ccafs	p.P671fs	FAM13B_uc003lcb.2_Frame_Shift_Del_p.P575fs|FAM13B_uc003lca.2_Frame_Shift_Del_p.P671fs	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA.	671					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						TCTTTAGATGGTTTTTTCTCC	0.378													-	137284728	T	-	137284728	7	5	73	1	0	1	0	1	0	0	0	0	5453	1722	60	0	765	0	FAM13B	5	137284728	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	3225393	137284728	43630532	310	49488											
CTNNA1	1495	broad.mit.edu	37	chr5	138160446	138160446	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatgcctcacagcaccagggTggaggaggaggagaactggc	17	9	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:138160446T>A	uc003ldh.2	+	6	911	c.816T>A	c.(814-816)GGT>GGA	p.G272G	CTNNA1_uc011cyx.1_Silent_p.G169G|CTNNA1_uc011cyy.1_Silent_p.G149G|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Silent_p.G272G	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	272					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCACCAGGGTGGAGGAGGAG	0.522													A	138160446	T	A	138160446	2	1	73	1	0	0	0	0	0	0	0	1	4012	1683	59	5		5	CTNNA1	5	138160446	Silent	SNP	T	TCGA-BR-8360-01A-11D-2340-08	875718	138160446	42754814	311	49489											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139876355	139876355	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagcaagtccagaagaagaaGaaaatattgaaagaactgca	10	5	0	6			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:139876355G>A	uc003lfs.1	+	15	2620	c.2496G>A	c.(2494-2496)AAG>AAA	p.K832K	ANKHD1_uc003lfq.1_Silent_p.K851K|ANKHD1_uc003lfr.2_Silent_p.K832K|ANKHD1_uc003lft.1_Intron|ANKHD1_uc003lfu.1_Silent_p.K312K|ANKHD1_uc003lfv.1_Intron	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	832						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGAAGAAGAAAATATTGA	0.373													A	139876355	G	A	139876355	2	1	73	1	0	0	0	0	0	0	0	1	629	933	33	4		4	ANKHD1-EIF4EBP3	5	139876355	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1715909	139876355	41038905	312	49490											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139918632	139918632	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaaccctatgataaaagtTatccaaaattcaactgaatg	6	7	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:139918632T>C	uc003lfs.1	+	33	7657	c.7533T>C	c.(7531-7533)GTT>GTC	p.V2511V	ANKHD1_uc003lfr.2_Silent_p.V2511V|ANKHD1-EIF4EBP3_uc011czh.1_Silent_p.V1267V|ANKHD1_uc003lfw.2_Silent_p.V1166V|ANKHD1_uc010jfl.2_Silent_p.V887V|ANKHD1-EIF4EBP3_uc003lfx.1_Silent_p.V656V	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2511						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATAAAAGTTATCCAAAATT	0.403													C	139918632	T	C	139918632	2	2	73	1	0	0	0	0	0	0	0	1	629	1741	61	3		3	ANKHD1-EIF4EBP3	5	139918632	Silent	SNP	T	TCGA-BR-8360-01A-11D-2340-08	42277	139918632	40996628	313	49491											
SLC35A4	113829	broad.mit.edu	37	chr5	139947624	139947624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgctcgctggtggtcaaCgccgtgctctcagcagtcct	11	15	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:139947624C>T	uc003lgg.1	+	3	1598	c.870C>T	c.(868-870)AAC>AAT	p.N290N	SLC35A4_uc003lgh.1_Silent_p.N290N	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	290	Leu-rich.|Helical; (Potential).					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGTCAACGCCGTGCTCT	0.592													T	139947624	C	T	139947624	2	4	73	1	0	0	0	0	0	0	0	1	14573	535	19	1		1	SLC35A4	5	139947624	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	28992	139947624	40967636	314	49492											
PCDHA4	56144	broad.mit.edu	37	chr5	140188676	140188676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgagatcagcacaacgcGtgccctggacgaaacggacg	14	12	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:140188676G>A	uc003lhi.2	+	1	2005	c.1904G>A	c.(1903-1905)CGT>CAT	p.R635H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.R635H|PCDHA4_uc011daa.1_Missense_Mutation_p.R635H	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	635	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACAACGCGTGCCCTGGAC	0.682													A	140188676	G	A	140188676	3	1	73	1	0	0	0	0	1	0	0	0	11526	1145	40	1	1906	1	PCDHA4	5	140188676	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	241052	140188676	40726584	315	49493											
PCDHA5	56143	broad.mit.edu	37	chr5	140202836	140202836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgccctggtgtcctactcGctggtggagcggcgggtggg	18	11	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:140202836G>A	uc003lhl.2	+	1	1476	c.1476G>A	c.(1474-1476)TCG>TCA	p.S492S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.S492S|PCDHA5_uc003lhj.1_Silent_p.S492S	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	492	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCTACTCGCTGGTGGAGC	0.667													A	140202836	G	A	140202836	2	1	73	1	0	0	0	0	0	0	0	1	11527	1074	38	1		1	PCDHA5	5	140202836	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	14160	140202836	40712424	316	49494											
PCDHA9	9752	broad.mit.edu	37	chr5	140229691	140229691	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacagttccaggtgagcgcGcgcgacgcgggcgtgccgcc	16	15	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:140229691G>A	uc003lhu.2	+	1	2335	c.1611G>A	c.(1609-1611)GCG>GCA	p.A537A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.A537A	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	537	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCGG	0.662													A	140229691	G	A	140229691	2	1	73	1	0	0	0	0	0	0	0	1	11531	1074	38	1		1	PCDHA9	5	140229691	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	26855	140229691	40685569	317	49495											
PCDHB6	56130	broad.mit.edu	37	chr5	140530024	140530024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagctggcttcgcggggCgctcgggttgttttcaaagg	19	8	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:140530024C>T	uc003lir.2	+	1	186	c.186C>T	c.(184-186)GGC>GGT	p.G62G	PCDHB6_uc011dah.1_Intron	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	62	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCGCGGGGCGCTCGGGTTG	0.517													T	140530024	C	T	140530024	2	4	73	1	0	0	0	0	0	0	0	1	11546	755	27	1		1	PCDHB6	5	140530024	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	300333	140530024	40385236	318	49496											
PCDHGA4	56111	broad.mit.edu	37	chr5	140734826	140734826	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccagatctgccttctccTgggggttctggtggaaatca	12	11	4	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:140734826T>G	uc003ljq.1	+	1	59	c.59T>G	c.(58-60)CTG>CGG	p.L20R	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.L20R	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	20					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)			TGCCTTCTCCTGGGGGTTCTG	0.622													G	140734826	T	G	140734826	3	3	73	1	0	0	0	0	1	0	0	0	11556	1580	55	5	61	5	PCDHGA4	5	140734826	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	204802	140734826	40180434	319	49497											
PCDHGB6	56100	broad.mit.edu	37	chr5	140789059	140789059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccactgacaggggcaagccGcctctttcttccagtagaag	11	13	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:140789059G>A	uc003lkj.1	+	1	1290	c.1290G>A	c.(1288-1290)CCG>CCA	p.P430P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.P430P	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	430	Extracellular (Potential).|Cadherin 4.				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)			GGGGCAAGCCGCCTCTTTCTT	0.532													A	140789059	G	A	140789059	2	1	73	1	0	0	0	0	0	0	0	1	11567	1074	38	1		1	PCDHGB6	5	140789059	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	54233	140789059	40126201	320	49498											
TCOF1	6949	broad.mit.edu	37	chr5	149756083	149756083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagtactccctgggaagaCggggcctacagtcacccagg	12	14	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:149756083C>T	uc003lry.2	+	14	2348	c.2240C>T	c.(2239-2241)ACG>ATG	p.T747M	TCOF1_uc003lrw.2_Missense_Mutation_p.T747M|TCOF1_uc011dch.1_Missense_Mutation_p.T747M|TCOF1_uc003lrz.2_Missense_Mutation_p.T747M|TCOF1_uc003lrx.2_Missense_Mutation_p.T670M|TCOF1_uc003lsa.2_Missense_Mutation_p.T670M|TCOF1_uc011dci.1_Missense_Mutation_p.T236M	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	747					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGGGAAGACGGGGCCTACA	0.577													T	149756083	C	T	149756083	3	4	73	1	0	0	0	0	1	0	0	0	15705	536	19	1	2294	1	TCOF1	5	149756083	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	8967024	149756083	31159177	321	49499											
NDST1	3340	broad.mit.edu	37	chr5	149901098	149901098	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtggagagcctctactcGcaactgggccaggaggtggt	15	9	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:149901098G>A	uc003lsk.3	+	2	784	c.282G>A	c.(280-282)TCG>TCA	p.S94S	NDST1_uc011dcj.1_Silent_p.S94S|NDST1_uc003lsl.2_Silent_p.S94S	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	94	Heparan sulfate N-deacetylase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCTCTACTCGCAACTGGGCC	0.637													A	149901098	G	A	149901098	2	1	73	1	0	0	0	0	0	0	0	1	10255	1074	38	1		1	NDST1	5	149901098	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	145015	149901098	31014162	322	49500											
NDST1	3340	broad.mit.edu	37	chr5	149927851	149927851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgattaccgccggctctgaCgcatcctcgaagctgcgtgc	12	14	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:149927851C>T	uc003lsk.3	+	12	2719	c.2217C>T	c.(2215-2217)GAC>GAT	p.D739D	NDST1_uc011dcj.1_Intron	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	739	Heparan sulfate N-sulfotransferase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGGCTCTGACGCATCCTCGA	0.627													T	149927851	C	T	149927851	2	4	73	1	0	0	0	0	0	0	0	1	10255	535	19	1		1	NDST1	5	149927851	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	26753	149927851	30987409	323	49501											
FAT2	2196	broad.mit.edu	37	chr5	150932777	150932777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtccgggtctgccctctaCgctgatgacccccaccatgt	10	16	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:150932777C>T	uc003lue.3	-	5	4130	c.4117G>A	c.(4117-4119)GTA>ATA	p.V1373I	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1373	Extracellular (Potential).|Cadherin 12.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCCCTCTACGCTGATGACC	0.587													T	150932777	C	T	150932777	3	4	73	1	0	0	0	0	1	0	0	0	5690	536	19	1	9008	1	FAT2	5	150932777	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1004926	150932777	29982483	324	49502											
WWC1	23286	broad.mit.edu	37	chr5	167812251	167812251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatcctcgagtacaatggCggcgggagcaggaacatatg	15	8	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:167812251C>T	uc003lzu.2	+	3	358	c.265C>T	c.(265-267)CGG>TGG	p.R89W	WWC1_uc003lzv.2_Missense_Mutation_p.R89W|WWC1_uc011den.1_Missense_Mutation_p.R89W	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	89					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGTACAATGGCGGCGGGAGCA	0.542													T	167812251	C	T	167812251	3	4	73	1	0	0	0	0	1	0	0	0	17408	759	27	1	275	1	WWC1	5	167812251	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	16879474	167812251	13103009	325	49503											
SLIT3	6586	broad.mit.edu	37	chr5	168096822	168096822	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccgctaaagccgggctgGcacaggcagtagggctcccc	14	15	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:168096822G>A	uc003mab.2	-	35	4722	c.4302C>T	c.(4300-4302)TGC>TGT	p.C1434C	SLIT3_uc010jjg.2_Silent_p.C1441C	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	1434	EGF-like 9.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCCGGGCTGGCACAGGCAGT	0.517													A	168096822	G	A	168096822	2	1	73	1	0	0	0	0	0	0	0	1	14741	1195	42	2		2	SLIT3	5	168096822	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	284571	168096822	12818438	326	49504											
KCNIP1	30820	broad.mit.edu	37	chr5	169931586	169931586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcgctgccatgggggccGtcatgggcaccttctcatct	11	14	4	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:169931586G>A	uc003mas.2	+	1	539	c.10G>A	c.(10-12)GTC>ATC	p.V4I	KCNIP1_uc003map.2_Intron|KCNIP1_uc003mat.2_Missense_Mutation_p.V4I|KCNIP1_uc010jjp.2_5'UTR|KCNIP1_uc010jjq.2_Missense_Mutation_p.V4I	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1 isoform 1	4					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			skin(2)	2	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATGGGGGCCGTCATGGGCAC	0.577													A	169931586	G	A	169931586	3	1	73	1	0	0	0	0	1	0	0	0	8039	1145	40	1	104	1	KCNIP1	5	169931586	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1834764	169931586	10983674	327	49505											
STC2	8614	broad.mit.edu	37	chr5	172744927	172744927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtccctgagccccaaggcCcccgactctgcctcgggcat	11	18	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:172744927C>T	uc003mco.1	-	4	2142	c.832G>A	c.(832-834)GGC>AGC	p.G278S	STC2_uc003mcn.1_Missense_Mutation_p.G193S	NM_003714	NP_003705	O76061	STC2_HUMAN	stanniocalcin 2 precursor	278					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			skin(2)|ovary(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCCCCAAGGCCCCCGACTCTG	0.607													T	172744927	C	T	172744927	3	4	73	1	0	0	0	0	1	0	0	0	15275	623	22	4	80	4	STC2	5	172744927	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2813341	172744927	8170333	328	49506											
HRH2	3274	broad.mit.edu	37	chr5	175110591	175110591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcctcgaccggtactgcGctgtcatggacccactgcgg	12	15	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:175110591G>A	uc003mdd.2	+	1	2128	c.355G>A	c.(355-357)GCT>ACT	p.A119T	HRH2_uc003mdc.3_Missense_Mutation_p.A119T	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	119	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CCGGTACTGCGCTGTCATGGA	0.532													A	175110591	G	A	175110591	3	1	73	1	0	0	0	0	1	0	0	0	7356	1087	38	1	357	1	HRH2	5	175110591	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2365664	175110591	5804669	329	49507											
GPRIN1	114787	broad.mit.edu	37	chr5	176025084	176025084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccttccccgagggcacCgggactgtttttcctggagt	11	14	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:176025084C>T	uc003meo.1	-	2	1927	c.1752G>A	c.(1750-1752)CCG>CCA	p.P584P		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	584						growth cone|plasma membrane				ovary(2)	2	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGAGGGCACCGGGACTGTTT	0.562													T	176025084	C	T	176025084	2	4	73	1	0	0	0	0	0	0	0	1	6729	639	23	1		1	GPRIN1	5	176025084	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	914493	176025084	4890176	330	49508											
DOK3	79930	broad.mit.edu	37	chr5	176931829	176931829	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccctcagctggatggcgTctgggcccagcaccagcagg	13	16	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:176931829T>C	uc003mhk.2	-	5	733	c.728A>G	c.(727-729)GAC>GGC	p.D243G	DOK3_uc003mhh.3_Missense_Mutation_p.D73G|DOK3_uc003mhi.3_Missense_Mutation_p.D187G|DOK3_uc003mhj.3_Missense_Mutation_p.D85G|DOK3_uc003mhl.2_Missense_Mutation_p.D187G	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	docking protein 3 isoform 1	243	IRS-type PTB.					cytoplasm|plasma membrane	insulin receptor binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CTGGATGGCGTCTGGGCCCAG	0.687													C	176931829	T	C	176931829	3	2	73	1	0	0	0	0	1	0	0	0	4698	1667	58	3	1122	3	DOK3	5	176931829	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	906745	176931829	3983431	331	49509											
ZFP2	80108	broad.mit.edu	37	chr5	178359583	178359583	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagccttcattaagaattcAtcccttacagtgcatcagag	6	10	3	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:178359583A>G	uc003mjn.1	+	5	1778	c.1269A>G	c.(1267-1269)TCA>TCG	p.S423S	ZFP2_uc010jky.2_Silent_p.S423S|ZFP2_uc010jkx.1_Silent_p.S423S	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	423	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TTAAGAATTCATCCCTTACAG	0.418													G	178359583	A	G	178359583	2	3	73	1	0	0	0	0	0	0	0	1	17638	204	8	3		3	ZFP2	5	178359583	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	1427754	178359583	2555677	332	49510											
GRM6	2916	broad.mit.edu	37	chr5	178413361	178413361	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatggcgtagatgaggaAgatgccggtgaggaggacgt	20	4	0	5			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:178413361A>C	uc003mjr.2	-	8	2073	c.1894T>G	c.(1894-1896)TTC>GTC	p.F632V	GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.F215V|GRM6_uc003mjs.1_Missense_Mutation_p.F252V	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	632	Helical; Name=2; (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TAGATGAGGAAGATGCCGGTG	0.667													C	178413361	A	C	178413361	3	2	73	1	0	0	0	0	1	0	0	0	6801	72	3	5	751	5	GRM6	5	178413361	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	53778	178413361	2501899	333	49511											
ADAMTS2	9509	broad.mit.edu	37	chr5	178557042	178557042	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatgaaggttttggaactgGcatccacgtcattctcttca	8	10	3	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:178557042G>T	uc003mjw.2	-	16	2348	c.2348C>A	c.(2347-2349)GCC>GAC	p.A783D		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	783	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TTTGGAACTGGCATCCACGTC	0.567													T	178557042	G	T	178557042	3	4	73	1	0	0	0	0	1	0	0	0	265	1203	42	5	1315	5	ADAMTS2	5	178557042	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	143681	178557042	2358218	334	49512											
ADAMTS2	9509	broad.mit.edu	37	chr5	178634558	178634558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgtacgtgctccttccCgtggaactgcaccacagagt	9	14	1	1	rs35499429		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:178634558C>T	uc003mjw.2	-	4	847	c.847G>A	c.(847-849)GGG>AGG	p.G283R	ADAMTS2_uc011dgm.1_Missense_Mutation_p.G283R	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	283	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGCTCCTTCCCGTGGAACTGC	0.632													T	178634558	C	T	178634558	3	4	73	1	0	0	0	0	1	0	0	0	265	652	23	1	2939	1	ADAMTS2	5	178634558	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	77516	178634558	2280702	335	49513											
FLT4	2324	broad.mit.edu	37	chr5	180058748	180058749	+	Frame_Shift_Ins	INS	-	-	G													ctccgtgatgttcaaggtcgINSggggggtcatggagtagcca							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:180058747_180058748C>CG	uc003mlz.4	-	1	168_169	c.89_90G>CG	c.(88-90)ccgfs	p.P30fs	FLT4_uc003mma.4_Frame_Shift_Ins_p.P30fs|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.2_Frame_Shift_Ins_p.P30fs|FLT4_uc011dgz.1_Frame_Shift_Ins_p.P30fs|FLT4_uc011dha.1_Frame_Shift_Ins_p.P30fs	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	30	Ig-like C2-type 1.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.P30fs*3(3)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGTTCAAGGTCGGGGGGGTCAT	0.634													G	180058749	-	G	180058748	7	5	73	1	0	1	1	0	0	0	0	0	5944	1116	39	0	4126	0	FLT4	5	180058748	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	1424190	180058748	856512	336	49514											
GNB2L1	10399	broad.mit.edu	37	chr5	180664659	180664659	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactggggtggttctgcctTgctgctggtactgataactt	13	9	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:180664659T>C	uc003mni.1	-	7	944	c.838A>G	c.(838-840)AAG>GAG	p.K280E	GNB2L1_uc003mnh.1_Missense_Mutation_p.K239E|GNB2L1_uc003mnk.1_Missense_Mutation_p.K202E|GNB2L1_uc003mnj.1_Missense_Mutation_p.K234E|GNB2L1_uc003mnl.1_Missense_Mutation_p.K64E	NM_006098	NP_006089	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein),	280					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding				0	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		GGTTCTGCCTTGCTGCTGGTA	0.493													C	180664659	T	C	180664659	3	2	73	1	0	0	0	0	1	0	0	0	6518	1821	63	3	123	3	GNB2L1	5	180664659	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	605911	180664659	250601	337	49515											
ALDH5A1	7915	broad.mit.edu	37	chr6	24520684	24520684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctctatggagctgggcgGccttgctccatttatagtat	12	9	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:24520684G>A	uc003neg.2	+	6	954	c.926G>A	c.(925-927)GGC>GAC	p.G309D	ALDH5A1_uc003nef.2_Missense_Mutation_p.G322D	NM_001080	NP_001071	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5A1 isoform 2 precursor	309					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity				0					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GAGCTGGGCGGCCTTGCTCCA	0.512													A	24520684	G	A	24520684	3	1	73	1	0	0	0	0	1	0	0	0	502	1203	42	2	991	2	ALDH5A1	6	24520684	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08		24520684	146594383	338	49516											
HIST1H1A	3024	broad.mit.edu	37	chr6	26017792	26017792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaacgacacaccaccacGctccttagaggaggaagcag	10	14	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:26017792G>A	uc003nfo.2	-	1	249	c.169C>T	c.(169-171)CGT>TGT	p.R57C	HIST1H3A_uc003nfp.1_5'Flank	NM_005325	NP_005316	Q02539	H11_HUMAN	histone cluster 1, H1a	57	H15.				nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			ovary(2)	2						ACACCACCACGCTCCTTAGAG	0.572													A	26017792	G	A	26017792	3	1	73	1	0	0	0	0	1	0	0	0	7122	1087	38	1	482	1	HIST1H1A	6	26017792	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1497108	26017792	145097275	339	49517											
NKAPL	222698	broad.mit.edu	37	chr6	28228207	28228207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgcagaatggaggctgtacGactgcgtaaggagaaccaga	14	8	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:28228207G>A	uc003nkt.2	+	1	1110	c.1058G>A	c.(1057-1059)CGA>CAA	p.R353Q	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	353										upper_aerodigestive_tract(1)|ovary(1)	2						GAGGCTGTACGACTGCGTAAG	0.453													A	28228207	G	A	28228207	3	1	73	1	0	0	0	0	1	0	0	0	10440	1058	37	1	1060	1	NKAPL	6	28228207	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2210415	28228207	142886860	340	49518											
PGBD1	84547	broad.mit.edu	37	chr6	28269950	28269950	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgatgtagccatgaacaaTgcatggcaactacacagagc	9	9	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:28269950T>C	uc003nky.2	+	7	2689	c.2319T>C	c.(2317-2319)AAT>AAC	p.N773N	PGBD1_uc003nkz.2_Silent_p.N773N	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	773					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						CCATGAACAATGCATGGCAAC	0.408													C	28269950	T	C	28269950	2	2	73	1	0	0	0	0	0	0	0	1	11780	1461	51	3		3	PGBD1	6	28269950	Silent	SNP	T	TCGA-BR-8360-01A-11D-2340-08	41743	28269950	142845117	341	49519											
SCAND3	114821	broad.mit.edu	37	chr6	28554433	28554434	+	Frame_Shift_Ins	INS	-	-	C													aacctttactttgataatctINSccccttgttcttctggagcc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:28554433_28554434insC	uc003nlo.2	-	1	679_680	c.61_62insG	c.(61-63)GAGfs	p.E21fs	uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	21					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TTTGATAATCTCCCCTTGTTCT	0.505													C	28554434	-	C	28554433	7	5	73	1	0	1	1	0	0	0	0	0	13876	1551	54	0	3931	0	SCAND3	6	28554433	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	284483	28554433	142560634	342	49520	192	2									
SCAND3	114821	broad.mit.edu	37	chr6	28554434	28554435	+	Frame_Shift_Ins	INS	-	-	C													acctttactttgataatctcINScccttgttcttctggagcct							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:28554433_28554434T>TC	uc003nlo.3	-	0	679_680	c.61_62A>GA	c.(61-63)gagfs	p.E21fs	AK056211_uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	21					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTTGATAATCTCCCCTTGTTCT	0.505													C	28554435	-	C	28554434	7	5	73	1	0	1	1	0	0	0	0	0	13876	864	30	0	3932	0	SCAND3	6	28554434	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	1	28554434	142560633	343	49521	192	2									
OR2W1	26692	broad.mit.edu	37	chr6	29012665	29012665	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatagagttggatgatacaAcccacatagctgatggtctt	9	8	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:29012665A>C	uc003nlw.2	-	1	288	c.288T>G	c.(286-288)GGT>GGG	p.G96G		NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						GGATGATACAACCCACATAGC	0.433													C	29012665	A	C	29012665	2	2	73	1	0	0	0	0	0	0	0	1	11032	30	2	5		5	OR2W1	6	29012665	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	458231	29012665	142102402	344	49522											
OR2H2	7932	broad.mit.edu	37	chr6	29556131	29556131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaccatcatccacccccGcctgtgctggcagctggcat	9	18	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:29556131G>A	uc003nmr.1	+	1	449	c.410G>A	c.(409-411)CGC>CAC	p.R137H	GABBR1_uc003nmp.3_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H,	137	Cytoplasmic (Potential).				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ATCCACCCCCGCCTGTGCTGG	0.612													A	29556131	G	A	29556131	3	1	73	1	0	0	0	0	1	0	0	0	11002	1087	38	1	412	1	OR2H2	6	29556131	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	543466	29556131	141558936	345	49523											
HLA-F	3134	broad.mit.edu	37	chr6	29692855	29692855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccatctctgaccatgagGccaccctgaggtgctgggcc	11	16	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:29692855G>A	uc010jrl.2	+	4	782	c.658G>A	c.(658-660)GCC>ACC	p.A220T	HLA-F_uc003nnm.3_Intron|HLA-F_uc003nno.3_Missense_Mutation_p.A220T|HLA-F_uc011dlx.1_Missense_Mutation_p.A220T|HLA-F_uc011dly.1_RNA	NM_018950	NP_061823	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	220	Alpha-3.|Extracellular (Potential).|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						TGACCATGAGGCCACCCTGAG	0.592													A	29692855	G	A	29692855	3	1	73	1	0	0	0	0	1	0	0	0	7211	1203	42	2	672	2	HLA-F	6	29692855	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	136724	29692855	141422212	346	49524											
TRIM10	10107	broad.mit.edu	37	chr6	30121852	30121852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgggctctcgggtgacaGcgttggtgaaggtcacccag	16	9	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:30121852G>A	uc003npo.3	-	7	1416	c.1340C>T	c.(1339-1341)GCT>GTT	p.A447V	TRIM10_uc003npn.2_Intron	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	tripartite motif-containing 10 isoform 1	447	B30.2/SPRY.					cytoplasm	zinc ion binding				0						TCGGGTGACAGCGTTGGTGAA	0.612													A	30121852	G	A	30121852	3	1	73	1	0	0	0	0	1	0	0	0	16483	971	34	2	197	2	TRIM10	6	30121852	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	428997	30121852	140993215	347	49525											
ABCF1	23	broad.mit.edu	37	chr6	30550906	30550906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgaaaatgacttctccGtgtcccaggcggagatgtcc	11	12	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:30550906G>A	uc003nql.2	+	10	951	c.856G>A	c.(856-858)GTG>ATG	p.V286M	ABCF1_uc003nqk.2_Missense_Mutation_p.V287M|ABCF1_uc003nqm.2_Missense_Mutation_p.V248M|ABCF1_uc010jsb.2_Intron|MIR877_hsa-mir-877|MI0005561_5'Flank	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F, member 1	286					inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			ovary(2)	2						TGACTTCTCCGTGTCCCAGGC	0.498													A	30550906	G	A	30550906	3	1	73	1	0	0	0	0	1	0	0	0	65	1145	40	1	894	1	ABCF1	6	30550906	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	429054	30550906	140564161	348	49526											
ABCF1	23	broad.mit.edu	37	chr6	30552049	30552049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagctgctggaagaggagCggcggcttcagggacagctg	18	8	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:30552049C>T	uc003nql.2	+	13	1278	c.1183C>T	c.(1183-1185)CGG>TGG	p.R395W	ABCF1_uc003nqk.2_Missense_Mutation_p.R396W|ABCF1_uc003nqm.2_Missense_Mutation_p.R357W|ABCF1_uc010jsb.2_Intron|MIR877_hsa-mir-877|MI0005561_5'Flank	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F, member 1	395	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			ovary(2)	2						GGAAGAGGAGCGGCGGCTTCA	0.592													T	30552049	C	T	30552049	3	4	73	1	0	0	0	0	1	0	0	0	65	759	27	1	1233	1	ABCF1	6	30552049	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1143	30552049	140563018	349	49527											
TCF19	6941	broad.mit.edu	37	chr6	31127272	31127272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgcttccaactgctgcGcatagggggcggcaggggcg	17	13	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:31127272G>A	uc003nss.2	+	2	550	c.26G>A	c.(25-27)CGC>CAC	p.R9H	CCHCR1_uc011dne.1_5'Flank|CCHCR1_uc003nsq.3_5'Flank|CCHCR1_uc003nsp.3_5'Flank|CCHCR1_uc003nsr.3_5'Flank|CCHCR1_uc010jsk.1_5'Flank|TCF19_uc003nst.2_Missense_Mutation_p.R9H	NM_001077511	NP_001070979	Q9Y242	TCF19_HUMAN	transcription factor 19	9					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CAACTGCTGCGCATAGGGGGC	0.667													A	31127272	G	A	31127272	3	1	73	1	0	0	0	0	1	0	0	0	15686	1087	38	1	28	1	TCF19	6	31127272	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	575223	31127272	139987795	350	49528											
BAT2	7916	broad.mit.edu	37	chr6	31599904	31599904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttcaccagccccagccCgcttcactgcccggggtggg	11	19	2	0	rs142106114	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:31599904C>T	uc003nvb.3	+	16	3703	c.3454C>T	c.(3454-3456)CGC>TGC	p.R1152C	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.R1152C	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1152	4 X 57 AA type A repeats.		R -> H (in a breast cancer sample; somatic mutation).			cytoplasm|nucleus	protein binding				0						AGCCCCAGCCCGCTTCACTGC	0.682													T	31599904	C	T	31599904	3	4	73	1	0	0	0	0	1	0	0	0	1319	652	23	1	3512	1	BAT2	6	31599904	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	472632	31599904	139515163	351	49529											
BAT2	7916	broad.mit.edu	37	chr6	31600251	31600251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcaggaacgggagaatgcCgcaagggggtctgagggcaa	18	7	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:31600251C>T	uc003nvb.3	+	16	4050	c.3801C>T	c.(3799-3801)GCC>GCT	p.A1267A	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Silent_p.A1267A	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1267	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						GGGAGAATGCCGCAAGGGGGT	0.647													T	31600251	C	T	31600251	2	4	73	1	0	0	0	0	0	0	0	1	1319	639	23	1		1	BAT2	6	31600251	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	347	31600251	139514816	352	49530											
BAT2	7916	broad.mit.edu	37	chr6	31600727	31600727	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tggaggaaggaccgggccagGacgaggcgacaagaggagct	19	8	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:31600727G>C	uc003nvb.3	+	16	4526	c.4277G>C	c.(4276-4278)GGA>GCA	p.G1426A	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.G1426A	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1426	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						ACCGGGCCAGGACGAGGCGAC	0.607													C	31600727	G	C	31600727	3	2	73	1	0	0	0	0	1	0	0	0	1319	1174	41	5	4335	5	BAT2	6	31600727	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	476	31600727	139514340	353	49531											
BAT2	7916	broad.mit.edu	37	chr6	31602658	31602658	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaccccccaagaggcctggAggctcctcacccctgaatgc	11	17	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:31602658A>G	uc003nvb.3	+	21	5313	c.5064A>G	c.(5062-5064)GGA>GGG	p.G1688G	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Silent_p.G1688G	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1688	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						AGAGGCCTGGAGGCTCCTCAC	0.612													G	31602658	A	G	31602658	2	3	73	1	0	0	0	0	0	0	0	1	1319	291	11	3		3	BAT2	6	31602658	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	1931	31602658	139512409	354	49532											
BAT5	7920	broad.mit.edu	37	chr6	31655422	31655422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaggagctccttacccaCgctccaggggaagtcgggcc	12	17	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:31655422C>T	uc003nvy.1	-	18	1573	c.1543G>A	c.(1543-1545)GTG>ATG	p.V515M	BAT5_uc003nvx.1_Missense_Mutation_p.V296M|BAT5_uc011dny.1_Missense_Mutation_p.V482M|BAT5_uc003nvz.1_Missense_Mutation_p.V296M|BAT5_uc011dnz.1_Missense_Mutation_p.V296M	NM_021160	NP_066983	O95870	ABHGA_HUMAN	HLA-B associated transcript 5	515						integral to membrane	hydrolase activity|protein binding				0						TCCTTACCCACGCTCCAGGGG	0.597													T	31655422	C	T	31655422	3	4	73	1	0	0	0	0	1	0	0	0	1324	536	19	1	145	1	BAT5	6	31655422	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	52764	31655422	139459645	355	49533											
TNXB	7148	broad.mit.edu	37	chr6	32023769	32023769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacgcatcacctggggccGcccgtccctgtccttgtact	10	17	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:32023769G>A	uc003nzl.2	-	24	8528	c.8326C>T	c.(8326-8328)CGG>TGG	p.R2776W		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2834	Fibronectin type-III 20.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						ACCTGGGGCCGCCCGTCCCTG	0.657													A	32023769	G	A	32023769	3	1	73	1	0	0	0	0	1	0	0	0	16343	1086	38	1	6471	1	TNXB	6	32023769	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	368347	32023769	139091298	356	49534											
PRRT1	80863	broad.mit.edu	37	chr6	32118218	32118218	+	Frame_Shift_Del	DEL	C	C	-													ggtatccgggcgctacgtagCcccccagcggcagcgtgccc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:32118218delC	uc003nzt.2	-	2	601	c.485delG	c.(484-486)GGCfs	p.G162fs	PRRT1_uc003nzs.2_Frame_Shift_Del_p.G203fs|PRRT1_uc003nzu.2_Frame_Shift_Del_p.G54fs	NM_030651	NP_085154	Q99946	PRRT1_HUMAN	NG5 protein	162					response to biotic stimulus	integral to membrane				breast(1)	1						CGCTACGTAGCCCCCCAGCGG	0.617													-	32118218	C	-	32118218	7	5	73	1	0	1	0	1	0	0	0	0	12609	739	26	0	447	0	PRRT1	6	32118218	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	94449	32118218	138996849	357	49535											
B3GALT4	8705	broad.mit.edu	37	chr6	33246260	33246260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgacggggaaaggactgCgcccttttgctcctggttcc	12	13	1	1	rs149120716		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:33246260C>T	uc003odr.2	+	1	1344	c.1064C>T	c.(1063-1065)GCG>GTG	p.A355V		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	355	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2						GAAAGGACTGCGCCCTTTTGC	0.612													T	33246260	C	T	33246260	3	4	73	1	0	0	0	0	1	0	0	0	1249	768	27	1	1066	1	B3GALT4	6	33246260	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1128042	33246260	137868807	358	49536											
RGL2	5863	broad.mit.edu	37	chr6	33264042	33264042	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cggtcaagctgacccttggcCtcagagccaaaatcctcagg	10	14	3	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:33264042C>G	uc003odv.2	-	6	664	c.531G>C	c.(529-531)GAG>GAC	p.E177D	RGL2_uc003odu.2_5'UTR|RGL2_uc010jur.2_Intron|RGL2_uc003odw.2_Missense_Mutation_p.E95D|RGL2_uc011drb.1_Missense_Mutation_p.E95D	NM_004761	NP_004752	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation	177	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			skin(3)|lung(1)|breast(1)|pancreas(1)	6						GACCCTTGGCCTCAGAGCCAA	0.577													G	33264042	C	G	33264042	3	3	73	1	0	0	0	0	1	0	0	0	13277	680	24	5	1854	5	RGL2	6	33264042	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	17782	33264042	137851025	359	49537											
KIFC1	3833	broad.mit.edu	37	chr6	33371779	33371779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggagctgaagaacttgcGtgcttgtgtcctggagctgg	15	8	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:33371779G>A	uc003oef.3	+	6	1079	c.629G>A	c.(628-630)CGT>CAT	p.R210H	KIFC1_uc011drf.1_Missense_Mutation_p.R202H	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	210	Potential.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0						AAGAACTTGCGTGCTTGTGTC	0.587													A	33371779	G	A	33371779	3	1	73	1	0	0	0	0	1	0	0	0	8312	1145	40	1	651	1	KIFC1	6	33371779	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	107737	33371779	137743288	360	49538											
ITPR3	3710	broad.mit.edu	37	chr6	33653429	33653429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcccacaggccgcgtggCctccttctcgatacctggct	10	18	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:33653429C>T	uc011drk.1	+	41	5711	c.5492C>T	c.(5491-5493)GCC>GTC	p.A1831V	ITPR3_uc003oey.2_5'Flank	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1831	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						GGCCGCGTGGCCTCCTTCTCG	0.687													T	33653429	C	T	33653429	3	4	73	1	0	0	0	0	1	0	0	0	7922	739	26	2	5654	2	ITPR3	6	33653429	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	281650	33653429	137461638	361	49539											
SLC26A8	116369	broad.mit.edu	37	chr6	35912065	35912066	+	Frame_Shift_Ins	INS	-	-	T													gatgaagcctggacttacatINSttttttggcttcctagaaaa							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:35912064_35912065A>AT	uc003olm.3	-	19	2636_2637	c.2525_2526T>AT	c.(2524-2526)aatfs	p.N842fs	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Frame_Shift_Ins_p.N424fs|SLC26A8_uc003oll.3_Frame_Shift_Ins_p.N737fs|SLC26A8_uc003oln.3_Frame_Shift_Ins_p.N842fs	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	842	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTGGACTTACATTTTTTTGGCT	0.401													T	35912066	-	T	35912065	7	5	73	1	0	1	1	0	0	0	0	0	14523	1493	52	0	391	0	SLC26A8	6	35912065	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	2258636	35912065	135203002	362	49540											
SLC26A8	116369	broad.mit.edu	37	chr6	35967813	35967813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaaaattacatagattaccGaagaacagaaagctgcataa	6	7	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:35967813G>A	uc003olm.2	-	4	512	c.401C>T	c.(400-402)TCG>TTG	p.S134L	SLC26A8_uc003oln.2_Missense_Mutation_p.S134L|SLC26A8_uc003oll.2_Missense_Mutation_p.S134L	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	134	Helical; (Potential).				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			ovary(2)	2						ATAGATTACCGAAGAACAGAA	0.393													A	35967813	G	A	35967813	3	1	73	1	0	0	0	0	1	0	0	0	14523	1059	37	1	2579	1	SLC26A8	6	35967813	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	55748	35967813	135147254	363	49541											
DNAH8	1769	broad.mit.edu	37	chr6	38759438	38759438	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accaaagtagaagatatgttGaccctcaatgaggtatgcat	9	7	1	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:38759438G>A	uc003ooe.1	+	19	2838	c.2238G>A	c.(2236-2238)TTG>TTA	p.L746L		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						AAGATATGTTGACCCTCAATG	0.348													A	38759438	G	A	38759438	2	1	73	1	0	0	0	0	0	0	0	1	4607	1281	45	4		4	DNAH8	6	38759438	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2791625	38759438	132355629	364	49542											
DAAM2	23500	broad.mit.edu	37	chr6	39869799	39869799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgggagcgggcaataaacCggctaaattattgacctggg	13	10	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:39869799C>T	uc003oow.2	+	25	3349	c.3193C>T	c.(3193-3195)CGG>TGG	p.R1065W	DAAM2_uc003oox.2_Missense_Mutation_p.R1064W	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	1065					actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGCAATAAACCGGCTAAATTA	0.567													T	39869799	C	T	39869799	3	4	73	1	0	0	0	0	1	0	0	0	4216	643	23	1	3284	1	DAAM2	6	39869799	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1110361	39869799	131245268	365	49543											
FOXP4	116113	broad.mit.edu	37	chr6	41555186	41555187	+	Frame_Shift_Ins	INS	-	-	C													cgctccccccaaggtctcacINScccccctctcccaccatacc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:41555185_41555186A>AC	uc003oql.3	+	6	1265_1266	c.807_808A>AC	c.(805-810)tcacccfs	p.S269fs	FOXP4_uc003oqm.3_Frame_Shift_Ins_p.S267fs|FOXP4_uc003oqn.3_Frame_Shift_Ins_p.S268fs	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA.	269					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCAAGGTCTCACCCCCCCTCTC	0.678											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C	41555187	-	C	41555186	7	5	73	1	0	1	1	0	0	0	0	0	6029	507	18	0	830	0	FOXP4	6	41555186	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	1685387	41555186	129559881	366	49544											
TFEB	7942	broad.mit.edu	37	chr6	41652368	41652368	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccctcctccatgctgaagCtgctccggcggctgctggcc	12	18	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:41652368C>A	uc003oqs.1	-	10	1702	c.1400G>T	c.(1399-1401)AGC>ATC	p.S467I	TFEB_uc003oqt.1_Missense_Mutation_p.S467I|TFEB_uc003oqu.1_Missense_Mutation_p.S481I|TFEB_uc003oqr.1_Missense_Mutation_p.S382I	NM_007162	NP_009093	P19484	TFEB_HUMAN	transcription factor EB	467				EPLAPGHGSPFPSLSKKDLDLMLLDDSLLPLASDPLLSTMS PEASKASSRRSSFSMEEGDVL -> DRN (in Ref. 1).	embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CATGCTGAAGCTGCTCCGGCG	0.687			T	ALPHA	renal (childhood epithelioid)								A	41652368	C	A	41652368	3	1	73	1	0	0	0	0	1	0	0	0	15798	797	28	5	34	5	TFEB	6	41652368	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	97182	41652368	129462699	367	49545											
MED20	9477	broad.mit.edu	37	chr6	41877053	41877053	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccccattgtgaccgtgcccAccttcaccaggaagtcacag	9	16	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:41877053A>G	uc003ork.2	-	3	498	c.377T>C	c.(376-378)GTG>GCG	p.V126A	MED20_uc003orj.2_Missense_Mutation_p.V61A|MED20_uc011duh.1_Intron|MED20_uc011dui.1_Intron|MED20_uc011duj.1_Missense_Mutation_p.V61A	NM_004275	NP_004266	Q9H944	MED20_HUMAN	Trf (TATA binding protein-related	126					regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|protein binding				0	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GACCGTGCCCACCTTCACCAG	0.557													G	41877053	A	G	41877053	3	3	73	1	0	0	0	0	1	0	0	0	9438	159	6	3	269	3	MED20	6	41877053	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	224685	41877053	129238014	368	49546											
TAF8	129685	broad.mit.edu	37	chr6	42023690	42023690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgttttcctgtctcttagGtttcaatgtggacactctcc	7	10	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:42023690G>A	uc003ors.2	+	4	331	c.302G>A	c.(301-303)GGT>GAT	p.G101D	TAF8_uc003orr.2_Missense_Mutation_p.G101D|TAF8_uc003ort.2_Missense_Mutation_p.G101D|TAF8_uc003oru.1_Missense_Mutation_p.G101D|TAF8_uc003orv.1_Missense_Mutation_p.G101D|TAF8_uc011dun.1_Missense_Mutation_p.G38D	NM_138572	NP_612639	Q7Z7C8	TAF8_HUMAN	TBP-associated factor 8	101	Histone-fold.				cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding			ovary(1)	1	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			TGTCTCTTAGGTTTCAATGTG	0.403													A	42023690	G	A	42023690	3	1	73	1	0	0	0	0	1	0	0	0	15531	1275	44	4	316	4	TAF8	6	42023690	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	146637	42023690	129091377	369	49547											
ABCC10	89845	broad.mit.edu	37	chr6	43412000	43412000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaaagcaagaaggagggCgccgtggccttgcacgtgta	16	8	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:43412000C>T	uc003ouy.1	+	12	2813	c.2598C>T	c.(2596-2598)GGC>GGT	p.G866G	ABCC10_uc003ouz.1_Silent_p.G838G|ABCC10_uc010jyo.1_5'UTR	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	866						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGAAGGAGGGCGCCGTGGCCT	0.587													T	43412000	C	T	43412000	2	4	73	1	0	0	0	0	0	0	0	1	50	755	27	1		1	ABCC10	6	43412000	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1388310	43412000	127703067	370	49548											
GTPBP2	54676	broad.mit.edu	37	chr6	43589437	43589437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccttggtgacaccctcccGgaacagcagtttggcgccca	11	16	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:43589437G>A	uc003ovs.2	-	12	1760	c.1723C>T	c.(1723-1725)CGG>TGG	p.R575W	GTPBP2_uc010jyv.2_Missense_Mutation_p.R487W|GTPBP2_uc003ovt.1_Intron	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	575							GTP binding|GTPase activity			liver(1)|skin(1)	2	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			ACACCCTCCCGGAACAGCAGT	0.572													A	43589437	G	A	43589437	3	1	73	1	0	0	0	0	1	0	0	0	6880	1115	39	1	89	1	GTPBP2	6	43589437	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	177437	43589437	127525630	371	49549											
SUPT3H	8464	broad.mit.edu	37	chr6	44922295	44922295	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcgacaacattgggttttatCtccatactgctgcagtccaa	8	11	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:44922295C>A	uc003oxo.2	-	10	981	c.663G>T	c.(661-663)GAG>GAT	p.E221D	SUPT3H_uc003oxn.1_Missense_Mutation_p.E210D|SUPT3H_uc011dvv.1_Missense_Mutation_p.E58D|SUPT3H_uc003oxp.2_Missense_Mutation_p.E210D|SUPT3H_uc011dvw.1_Missense_Mutation_p.E124D	NM_181356	NP_852001	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog isoform 2	292					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			ovary(2)|breast(1)	3						TGGGTTTTATCTCCATACTGC	0.378													A	44922295	C	A	44922295	3	1	73	1	0	0	0	0	1	0	0	0	15394	912	32	5	339	5	SUPT3H	6	44922295	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1332858	44922295	126192772	372	49550											
DST	667	broad.mit.edu	37	chr6	56374631	56374631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcagacgttccacgatgCgttccaggctctcaaggatc	10	14	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:56374631C>T	uc003pdf.2	-	68	12492	c.12464G>A	c.(12463-12465)CGC>CAC	p.R4155H	DST_uc003pcz.3_Missense_Mutation_p.R3977H|DST_uc011dxj.1_Missense_Mutation_p.R4006H|DST_uc011dxk.1_Missense_Mutation_p.R4017H|DST_uc003pcy.3_Missense_Mutation_p.R3651H	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6063	Spectrin 12.				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)			TTCCACGATGCGTTCCAGGCT	0.423													T	56374631	C	T	56374631	3	4	73	1	0	0	0	0	1	0	0	0	4783	768	27	1	4683	1	DST	6	56374631	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	11452336	56374631	114740436	373	49551											
BAI3	577	broad.mit.edu	37	chr6	69772890	69772890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcctgaacccaaaacaaccGattcgtttctggagatagaa	9	10	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:69772890G>A	uc003pev.3	+	16	2846	c.2398G>A	c.(2398-2400)GAT>AAT	p.D800N	BAI3_uc010kak.2_Missense_Mutation_p.D800N	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	800	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				CAAAACAACCGATTCGTTTCT	0.363													A	69772890	G	A	69772890	3	1	73	1	0	0	0	0	1	0	0	0	1300	1058	37	1	2452	1	BAI3	6	69772890	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	13398259	69772890	101342177	374	49552											
IBTK	25998	broad.mit.edu	37	chr6	82909923	82909923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaactatctgaacgtttaCgtggcttctttttagctttt	7	8	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:82909923C>T	uc003pjl.1	-	21	3487	c.2960G>A	c.(2959-2961)CGT>CAT	p.R987H	IBTK_uc011dyu.1_5'UTR|IBTK_uc011dyv.1_Missense_Mutation_p.R987H|IBTK_uc011dyw.1_Missense_Mutation_p.R786H|IBTK_uc010kbi.1_Missense_Mutation_p.R681H|IBTK_uc003pjm.2_Missense_Mutation_p.R987H	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	987					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TGAACGTTTACGTGGCTTCTT	0.299													T	82909923	C	T	82909923	3	4	73	1	0	0	0	0	1	0	0	0	7476	536	19	1	1137	1	IBTK	6	82909923	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	13137033	82909923	88205144	375	49553											
HTR1E	3354	broad.mit.edu	37	chr6	87725581	87725581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagtcagtgcaccatccagCacgaccatgttatctacacc	6	15	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:87725581C>T	uc003pli.2	+	2	1232	c.529C>T	c.(529-531)CAC>TAC	p.H177Y		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	177	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)|skin(1)	3		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CACCATCCAGCACGACCATGT	0.522													T	87725581	C	T	87725581	3	4	73	1	0	0	0	0	1	0	0	0	7439	710	25	2	531	2	HTR1E	6	87725581	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	4815658	87725581	83389486	376	49554											
HTR1E	3354	broad.mit.edu	37	chr6	87725847	87725847	+	Frame_Shift_Del	DEL	C	C	-													ttccatgcctccatcaggatCccccccttcgacaatgatct							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:87725846_87725846TC>T	uc003pli.3	+	1	1497	c.794_794TC>T	c.(793-795)atcfs	p.I265fs	HTR1E_uc021zcg.1_Frame_Shift_Del_p.I265fs	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	265					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCCATCAGGATCCCCCCCTTC	0.507													-	87725847	C	-	87725847	7	5	73	1	0	1	0	1	0	0	0	0	7439	845	30	0	797	0	HTR1E	6	87725847	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	266	87725847	83389220	377	49555											
ORC3L	23595	broad.mit.edu	37	chr6	88318943	88318943	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaagacttcataattatcAgcaggtagatggtgtattac	8	6	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:88318943A>G	uc003pmh.2	+	7	753	c.709A>G	c.(709-711)AGC>GGC	p.S237G	ORC3L_uc011dzl.1_Missense_Mutation_p.S237G|ORC3L_uc011dzm.1_Missense_Mutation_p.S237G|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Missense_Mutation_p.S237G|ORC3L_uc003pmi.2_Missense_Mutation_p.S237G|ORC3L_uc011dzo.1_Missense_Mutation_p.S94G|ORC3L_uc011dzp.1_Missense_Mutation_p.S94G	NM_012381	NP_036513	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3 isoform 2	237					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.0469)		CATAATTATCAGCAGGTAGAT	0.343													G	88318943	A	G	88318943	3	3	73	1	0	0	0	0	1	0	0	0	11263	188	7	3	735	3	ORC3L	6	88318943	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	593096	88318943	82796124	378	49556											
BACH2	60468	broad.mit.edu	37	chr6	90661243	90661243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctacggggatggcggcGgcctcaaagctgatgggctc	16	11	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:90661243G>A	uc011eab.1	-	7	1391	c.582C>T	c.(580-582)GCC>GCT	p.A194A	BACH2_uc003pnw.2_Silent_p.A194A|BACH2_uc010kch.2_Silent_p.A194A	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	194						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGATGGCGGCGGCCTCAAAGC	0.597													A	90661243	G	A	90661243	2	1	73	1	0	0	0	0	0	0	0	1	1284	1103	39	1		1	BACH2	6	90661243	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2342300	90661243	80453824	379	49557											
EPHA7	2045	broad.mit.edu	37	chr6	93956681	93956681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgctggtaaacgataaCcttcttctattgcttttata	8	7	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:93956681C>T	uc003poe.2	-	15	2796	c.2555G>A	c.(2554-2556)GGT>GAT	p.G852D	EPHA7_uc003pof.2_Missense_Mutation_p.G847D|EPHA7_uc011eac.1_Missense_Mutation_p.G848D	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	852	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TAAACGATAACCTTCTTCTAT	0.388													T	93956681	C	T	93956681	3	4	73	1	0	0	0	0	1	0	0	0	5172	507	18	4	453	4	EPHA7	6	93956681	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3295438	93956681	77158386	380	49558											
SIM1	6492	broad.mit.edu	37	chr6	100895166	100895166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggacatagttgacgctgaCgatacagtgtggcctggagg	16	7	0	2	rs41285857	by1000genomes	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:100895166C>T	uc003pqj.3	-	8	1183	c.976G>A	c.(976-978)GTC>ATC	p.V326I	SIM1_uc010kcu.2_Missense_Mutation_p.V326I	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	326	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTGACGCTGACGATACAGTGT	0.622													T	100895166	C	T	100895166	3	4	73	1	0	0	0	0	1	0	0	0	14323	536	19	1	1340	1	SIM1	6	100895166	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	6938485	100895166	70219901	381	49559											
BEND3	57673	broad.mit.edu	37	chr6	107391957	107391957	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacacgtttagcaggtccccCgagggaggattcttcttctc	10	12	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:107391957C>T	uc003prs.2	-	5	1088	c.438G>A	c.(436-438)TCG>TCA	p.S146S		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	146										ovary(3)	3						GCAGGTCCCCCGAGGGAGGAT	0.572													T	107391957	C	T	107391957	2	4	73	1	0	0	0	0	0	0	0	1	1399	639	23	1		1	BEND3	6	107391957	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	6496791	107391957	63723110	382	49560											
SLC16A10	117247	broad.mit.edu	37	chr6	111498611	111498611	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggttctgattgacagcgtgGgcctcttttacacattgagg	13	8	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:111498611G>T	uc003pus.2	+	3	860	c.685G>T	c.(685-687)GGC>TGC	p.G229C	SLC16A10_uc003pur.3_Missense_Mutation_p.G229C|SLC16A10_uc003put.2_5'UTR	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	solute carrier family 16, member 10	229	Helical; (Potential).				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity				0		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TGACAGCGTGGGCCTCTTTTA	0.483													T	111498611	G	T	111498611	3	4	73	1	0	0	0	0	1	0	0	0	14403	1232	43	5	695	5	SLC16A10	6	111498611	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	4106654	111498611	59616456	383	49561											
NKAIN2	154215	broad.mit.edu	37	chr6	124125394	124125394	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatctttatctgtggcatgCaactggtaagtgacacttgg	10	7	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:124125394C>T	uc003pzo.2	+	1	326	c.49C>T	c.(49-51)CAA>TAA	p.Q17*	NKAIN2_uc003pzn.1_Nonsense_Mutation_p.Q17*|NKAIN2_uc003pzp.2_5'UTR|NKAIN2_uc010keq.2_Nonsense_Mutation_p.Q17*|NKAIN2_uc010kep.1_RNA	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	T-cell lymphoma breakpoint-associated target 1	17	Helical; (Potential).					integral to membrane|plasma membrane					0				GBM - Glioblastoma multiforme(226;0.104)		CTGTGGCATGCAACTGGTAAG	0.537													T	124125394	C	T	124125394	4	4	73	1	0	0	0	0	0	1	0	0	10436	711	25	2	51	2	NKAIN2	6	124125394	Nonsense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	12626783	124125394	46989673	384	49562											
C6orf191	253582	broad.mit.edu	37	chr6	130164727	130164727	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttttgaaatcaaatggagcCaggacattcaactcatgcac	8	9	3	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:130164727C>A	uc003qbs.2	-	3	224	c.141G>T	c.(139-141)CTG>CTT	p.L47L		NM_001010876	NP_001010876	Q5VVB8	CF191_HUMAN	hypothetical protein LOC253582	47						integral to membrane				large_intestine(1)	1				GBM - Glioblastoma multiforme(226;0.0387)|all cancers(137;0.115)|OV - Ovarian serous cystadenocarcinoma(155;0.131)		CAAATGGAGCCAGGACATTCA	0.333													A	130164727	C	A	130164727	2	1	73	1	0	0	0	0	0	0	0	1	2348	581	21	5		5	C6orf191	6	130164727	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	6039333	130164727	40950340	385	49563											
PLAGL1	5325	broad.mit.edu	37	chr6	144269239	144269239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttctccagggtgaggaacGtcttgccacataactggcag	11	11	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:144269239G>A	uc003qjv.2	-	2	1301	c.35C>T	c.(34-36)ACG>ATG	p.T12M	PLAGL1_uc003qjx.2_Missense_Mutation_p.T12M|PLAGL1_uc003qjy.2_Missense_Mutation_p.T12M|PLAGL1_uc010khl.2_Missense_Mutation_p.T12M|PLAGL1_uc010khm.2_Missense_Mutation_p.T12M|PLAGL1_uc003qjz.2_Missense_Mutation_p.T12M|PLAGL1_uc003qka.2_Missense_Mutation_p.T12M|PLAGL1_uc003qkb.2_Intron|PLAGL1_uc003qkc.2_Missense_Mutation_p.T12M|PLAGL1_uc003qkd.2_Intron|PLAGL1_uc003qke.2_Missense_Mutation_p.T12M|PLAGL1_uc003qkf.2_Missense_Mutation_p.T12M|PLAGL1_uc003qkg.2_Intron|PLAGL1_uc003qkh.2_Missense_Mutation_p.T12M|PLAGL1_uc003qki.2_Intron|PLAGL1_uc003qkj.2_Missense_Mutation_p.T12M|PLAGL1_uc003qkk.2_Intron|PLAGL1_uc003qkl.2_Intron|PLAGL1_uc003qkm.2_Missense_Mutation_p.T12M|PLAGL1_uc010khn.2_Missense_Mutation_p.T12M|PLAGL1_uc003qkn.2_Intron|PLAGL1_uc003qko.2_Missense_Mutation_p.T12M|PLAGL1_uc003qkp.2_Intron|PLAGL1_uc003qjw.2_Intron	NM_002656	NP_002647	Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1 isoform 1	12	C2H2-type 1.				cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GGTGAGGAACGTCTTGCCACA	0.512													A	144269239	G	A	144269239	3	1	73	1	0	0	0	0	1	0	0	0	12019	1145	40	1	1364	1	PLAGL1	6	144269239	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	14104512	144269239	26845828	386	49564											
UTRN	7402	broad.mit.edu	37	chr6	145114977	145114977	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctctttgcagatctcttTaaggaagttgcagggccaac	9	11	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:145114977T>C	uc003qkt.2	+	62	9020	c.8928T>C	c.(8926-8928)TTT>TTC	p.F2976F		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2976	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGATCTCTTTAAGGAAGTTG	0.453													C	145114977	T	C	145114977	2	2	73	1	0	0	0	0	0	0	0	1	17100	1751	61	3		3	UTRN	6	145114977	Silent	SNP	T	TCGA-BR-8360-01A-11D-2340-08	845738	145114977	26000090	387	49565											
SHPRH	257218	broad.mit.edu	37	chr6	146256278	146256278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggagccagtgtatttcttCggtttgtggtggtatttgga	15	4	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:146256278C>T	uc003qlf.2	-	13	3154	c.2755G>A	c.(2755-2757)GAA>AAA	p.E919K	SHPRH_uc003qld.2_Missense_Mutation_p.E919K|SHPRH_uc003qle.2_Missense_Mutation_p.E919K|SHPRH_uc003qlg.1_Missense_Mutation_p.E475K|SHPRH_uc003qlj.1_Missense_Mutation_p.E808K|SHPRH_uc003qlh.2_5'Flank	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	919					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGTATTTCTTCGGTTTGTGGT	0.388													T	146256278	C	T	146256278	3	4	73	1	0	0	0	0	1	0	0	0	14291	893	31	1	2412	1	SHPRH	6	146256278	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1141301	146256278	24858789	388	49566											
SHPRH	257218	broad.mit.edu	37	chr6	146266724	146266724	+	Frame_Shift_Del	DEL	T	T	-													atggaaaggatggacactccTttttttccattcatttcttt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:146266723_146266723CT>C	uc003qlf.3	-	7	1771	c.1372_1372AG>G	c.(1372-1374)ggafs	p.G458fs	SHPRH_uc003qle.3_Frame_Shift_Del_p.G458fs|SHPRH_uc003qlg.1_Frame_Shift_Del_p.G14fs|SHPRH_uc003qlj.1_Frame_Shift_Del_p.G347fs	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	458	H15.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.G458V(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATGGACACTCCTTTTTTTCCA	0.328													-	146266724	T	-	146266724	7	5	73	1	0	1	0	1	0	0	0	0	14291	1606	56	0	3816	0	SHPRH	6	146266724	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	10446	146266724	24848343	389	49567											
UST	10090	broad.mit.edu	37	chr6	149285691	149285691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcatgaggcaggaggagCgctacctggtaagtcctgtc	14	11	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:149285691C>T	uc003qmg.2	+	5	969	c.673C>T	c.(673-675)CGC>TGC	p.R225C	uc003qmh.1_Intron	NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	225	Lumenal (Potential).				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GCAGGAGGAGCGCTACCTGGT	0.567													T	149285691	C	T	149285691	3	4	73	1	0	0	0	0	1	0	0	0	17090	768	27	1	691	1	UST	6	149285691	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3018967	149285691	21829376	390	49568											
AKAP12	9590	broad.mit.edu	37	chr6	151674332	151674332	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaaggagaggaacctcaGgcctctgcacaggatgaaac	12	9	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:151674332G>A	uc011eep.1	+	4	5046	c.4806G>A	c.(4804-4806)CAG>CAA	p.Q1602Q	AKAP12_uc003qoe.2_Silent_p.Q1602Q|AKAP12_uc003qof.2_Silent_p.Q1504Q|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.Q1497Q	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	1602				Q -> L (in Ref. 2; BAA19927).	G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGGAACCTCAGGCCTCTGCAC	0.488													A	151674332	G	A	151674332	2	1	73	1	0	0	0	0	0	0	0	1	448	991	35	4		4	AKAP12	6	151674332	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2388641	151674332	19440735	391	49569											
C6orf97	80129	broad.mit.edu	37	chr6	151857472	151857472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaaacttacgatcatctttCggaagtcccggtcacgcggg	12	11	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:151857472C>T	uc003qol.2	+	2	166	c.77C>T	c.(76-78)TCG>TTG	p.S26L		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	26											0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		GATCATCTTTCGGAAGTCCCG	0.428													T	151857472	C	T	151857472	3	4	73	1	0	0	0	0	1	0	0	0	2374	893	31	1	83	1	C6orf97	6	151857472	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	183140	151857472	19257595	392	49570											
IPCEF1	26034	broad.mit.edu	37	chr6	154542444	154542444	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaaggtcttgatctgtggAtggctgatcttaaaagcact	10	6	3	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:154542444A>G	uc003qpx.2	-	7	492	c.336T>C	c.(334-336)CAT>CAC	p.H112H	OPRM1_uc003qpt.1_Intron|IPCEF1_uc003qpw.2_Silent_p.H113H|IPCEF1_uc010kjh.2_Silent_p.H113H	NM_015553	NP_056368	Q8WWN9	ICEF1_HUMAN	phosphoinositide-binding protein PIP3-E isoform	112	PH.				response to oxidative stress	cytoplasm|plasma membrane	oxygen transporter activity|peroxidase activity				0						TGATCTGTGGATGGCTGATCT	0.358													G	154542444	A	G	154542444	2	3	73	1	0	0	0	0	0	0	0	1	7791	330	12	3		3	IPCEF1	6	154542444	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	2684972	154542444	16572623	393	49571											
EZR	7430	broad.mit.edu	37	chr6	159206516	159206516	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagaaaagtttctgggTgatgtcctggatgagctcct	14	6	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:159206516T>C	uc003qrt.3	-	4	507	c.292A>G	c.(292-294)ACC>GCC	p.T98A	EZR_uc011efs.1_Missense_Mutation_p.T66A|EZR_uc003qru.3_Missense_Mutation_p.T98A	NM_003379	NP_003370	P15311	EZRI_HUMAN	ezrin	98	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		AGTTTCTGGGTGATGTCCTGG	0.552													C	159206516	T	C	159206516	3	2	73	1	0	0	0	0	1	0	0	0	5335	1696	59	3	1508	3	EZR	6	159206516	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	4664072	159206516	11908551	394	49572											
FNDC1	84624	broad.mit.edu	37	chr6	159655397	159655397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgcagtacaccacgcgcGccccacctggccacttctcc	9	21	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:159655397G>A	uc010kjv.2	+	11	4053	c.3853G>A	c.(3853-3855)GCC>ACC	p.A1285T	FNDC1_uc010kjw.1_Missense_Mutation_p.A1170T	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1285						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CACCACGCGCGCCCCACCTGG	0.701													A	159655397	G	A	159655397	3	1	73	1	0	0	0	0	1	0	0	0	5968	1087	38	1	3895	1	FNDC1	6	159655397	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	448881	159655397	11459670	395	49573											
SLC22A2	6582	broad.mit.edu	37	chr6	160679635	160679635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcggccactccggggctcCggcagcggtggtcaggggtg	19	13	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:160679635C>T	uc003qtf.2	-	1	325	c.155G>A	c.(154-156)CGG>CAG	p.R52Q	SLC22A2_uc003qte.1_Missense_Mutation_p.R52Q|SLC22A2_uc003qth.1_Missense_Mutation_p.R52Q	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	52	Extracellular (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)|skin(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TCCGGGGCTCCGGCAGCGGTG	0.647													T	160679635	C	T	160679635	3	4	73	1	0	0	0	0	1	0	0	0	14450	652	23	1	1556	1	SLC22A2	6	160679635	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1024238	160679635	10435432	396	49574											
MLLT4	4301	broad.mit.edu	37	chr6	168352841	168352841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccatgctgatcatgcagCgcctggaggctgaacgaaga	12	11	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:168352841C>T	uc003qwd.2	+	29	4925	c.4783C>T	c.(4783-4785)CGC>TGC	p.R1595C	MLLT4_uc003qwb.1_Missense_Mutation_p.R1580C|MLLT4_uc003qwc.1_Missense_Mutation_p.R1596C|MLLT4_uc003qwg.1_Missense_Mutation_p.R905C	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1596	Potential.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GATCATGCAGCGCCTGGAGGC	0.408			T	MLL	AL								T	168352841	C	T	168352841	3	4	73	1	0	0	0	0	1	0	0	0	9629	768	27	1	4900	1	MLLT4	6	168352841	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	7673206	168352841	2762226	397	49575											
THBS2	7058	broad.mit.edu	37	chr6	169622298	169622298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagccaacctcacctgcccCggcgtgttccccgtgtgcca	9	20	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:169622298C>T	uc003qwt.2	-	20	3515	c.3267G>A	c.(3265-3267)CCG>CCA	p.P1089P		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	1089	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCACCTGCCCCGGCGTGTTCC	0.647													T	169622298	C	T	169622298	2	4	73	1	0	0	0	0	0	0	0	1	15851	639	23	1		1	THBS2	6	169622298	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1269457	169622298	1492769	398	49576											
C7orf50	84310	broad.mit.edu	37	chr7	1037311	1037311	+	Frame_Shift_Del	DEL	G	G	-													gcgctgggccctccccggcaGggggggatcagagccctcct							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:1037311delG	uc003sju.2	-	5	605	c.535delC	c.(535-537)CTGfs	p.L179fs	C7orf50_uc003sjs.2_RNA|C7orf50_uc011jvt.1_Frame_Shift_Del_p.L179fs|C7orf50_uc011jvu.1_Frame_Shift_Del_p.L179fs	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN	hypothetical protein LOC84310	179							protein binding				0		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CTCCCCGGCAGGGGGGGATCA	0.721													-	1037311	G	-	1037311	7	5	73	1	0	1	0	1	0	0	0	0	2399	991	35	0	53	0	C7orf50	7	1037311	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08		1037311	158101352	399	49577											
MAD1L1	8379	broad.mit.edu	37	chr7	2255800	2255800	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacccctcaccgcaggtgCgcgctctcctcccgcagctg	10	20	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:2255800C>T	uc003slh.1	-	8	1067	c.801G>A	c.(799-801)GCG>GCA	p.A267A	MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Silent_p.A267A|MAD1L1_uc003slg.1_Silent_p.A267A|MAD1L1_uc010ksh.1_Silent_p.A267A|MAD1L1_uc003sli.1_Silent_p.A175A|MAD1L1_uc010ksi.1_Silent_p.A220A|MAD1L1_uc010ksj.2_Silent_p.A267A	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	267	Potential.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		ACCGCAGGTGCGCGCTCTCCT	0.632													T	2255800	C	T	2255800	2	4	73	1	0	0	0	0	0	0	0	1	9147	755	27	1		1	MAD1L1	7	2255800	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1218489	2255800	156882863	400	49578											
TNRC18	84629	broad.mit.edu	37	chr7	5401291	5401291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgctcggggcgtgggtcCgtttccgcggcctgccaggg	20	13	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:5401291C>T	uc003soi.3	-	14	4944	c.4595G>A	c.(4594-4596)CGG>CAG	p.R1532Q		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1532							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGCGTGGGTCCGTTTCCGCGG	0.672													T	5401291	C	T	5401291	3	4	73	1	0	0	0	0	1	0	0	0	16336	652	23	1	4379	1	TNRC18	7	5401291	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3145491	5401291	153737372	401	49579											
FBXL18	80028	broad.mit.edu	37	chr7	5540810	5540810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtcgtcctccgccttgcGgagcagcgagtctggggaca	15	12	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:5540810G>A	uc003soo.2	-	3	1184	c.1090C>T	c.(1090-1092)CGC>TGC	p.R364C	FBXL18_uc003son.3_Missense_Mutation_p.R364C	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	364										central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TCCGCCTTGCGGAGCAGCGAG	0.657													A	5540810	G	A	5540810	3	1	73	1	0	0	0	0	1	0	0	0	5714	1116	39	1	1078	1	FBXL18	7	5540810	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	139519	5540810	153597853	402	49580											
DAGLB	221955	broad.mit.edu	37	chr7	6464452	6464452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatccagagccactaaaaaCggcagctcgtaaacctgcag	9	12	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:6464452C>T	uc003sqa.2	-	8	1241	c.1071G>A	c.(1069-1071)CCG>CCA	p.P357P	DAGLB_uc003spz.2_5'Flank|DAGLB_uc011jwt.1_Silent_p.P171P|DAGLB_uc011jwu.1_Silent_p.P228P|DAGLB_uc003sqb.2_Silent_p.P76P|DAGLB_uc003sqc.2_Silent_p.P76P|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Silent_p.P316P|DAGLB_uc011jww.1_RNA	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	357	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CCACTAAAAACGGCAGCTCGT	0.547													T	6464452	C	T	6464452	2	4	73	1	0	0	0	0	0	0	0	1	4227	523	19	1		1	DAGLB	7	6464452	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	923642	6464452	152674211	403	49581											
GLCCI1	113263	broad.mit.edu	37	chr7	8043675	8043675	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actacccttcatgcatgaaaGacaaagctactcaggtaaaa	6	10	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:8043675G>T	uc003srk.2	+	2	1154	c.595G>T	c.(595-597)GAC>TAC	p.D199Y		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	199											0		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		ATGCATGAAAGACAAAGCTAC	0.388													T	8043675	G	T	8043675	3	4	73	1	0	0	0	0	1	0	0	0	6431	942	33	5	601	5	GLCCI1	7	8043675	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1579223	8043675	151094988	404	49582											
ETV1	2115	broad.mit.edu	37	chr7	13949284	13949284	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttctgggacaacacaggTgtcatcataaaactgcctgg	9	9	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:13949284T>G	uc011jxq.1	-	11	1652	c.913A>C	c.(913-915)ACC>CCC	p.T305P	ETV1_uc011jxn.1_Missense_Mutation_p.T265P|ETV1_uc011jxo.1_Missense_Mutation_p.T202P|ETV1_uc011jxp.1_Missense_Mutation_p.T247P|ETV1_uc003ssw.3_Missense_Mutation_p.T282P|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.T287P|ETV1_uc011jxs.1_Missense_Mutation_p.T287P|ETV1_uc010ktv.2_Silent_p.T173T	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1 isoform a	305					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						ACAACACAGGTGTCATCATAA	0.373			T	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3	Ewing sarcoma|prostate								G	13949284	T	G	13949284	3	3	73	1	0	0	0	0	1	0	0	0	5277	1696	59	5	536	5	ETV1	7	13949284	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	5905609	13949284	145189379	405	49583											
HOXA9	3205	broad.mit.edu	37	chr7	27203381	27203381	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacagaaactctttctccagTtccagggtctggtgttttgt	9	9	3	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:27203381T>A	uc003syt.2	-	2	733	c.660A>T	c.(658-660)GAA>GAT	p.E220D		NM_152739	NP_689952	P31269	HXA9_HUMAN	homeobox A9	220	Homeobox.						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E220K(1)		lung(1)|central_nervous_system(1)	2						CTTTCTCCAGTTCCAGGGTCT	0.552			T	NUP98|MSI2	AML*								A	27203381	T	A	27203381	3	1	73	1	0	0	0	0	1	0	0	0	7298	1722	60	5	162	5	HOXA9	7	27203381	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	13254097	27203381	131935282	406	49584											
CCDC129	223075	broad.mit.edu	37	chr7	31683217	31683217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgtgatcctgttaccGcaacagaaacaagactgggg	12	9	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:31683217G>A	uc003tcj.1	+	11	3226	c.2233G>A	c.(2233-2235)GCA>ACA	p.A745T	CCDC129_uc011kad.1_Missense_Mutation_p.A755T|CCDC129_uc003tci.1_Missense_Mutation_p.A596T|CCDC129_uc011kae.1_Missense_Mutation_p.A771T|CCDC129_uc003tck.1_Missense_Mutation_p.A653T	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	745											0						TCCTGTTACCGCAACAGAAAC	0.522													A	31683217	G	A	31683217	3	1	73	1	0	0	0	0	1	0	0	0	2764	1087	38	1	2271	1	CCDC129	7	31683217	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	4479836	31683217	127455446	407	49585											
C7orf10	79783	broad.mit.edu	37	chr7	40277271	40277271	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaatttctcagcgagctggTtatgatgctgttgcctcggc	11	11	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:40277271T>C	uc003thn.1	+	7	567	c.522T>C	c.(520-522)GGT>GGC	p.G174G	C7orf10_uc003thm.1_Silent_p.G144G|C7orf10_uc003tho.1_Silent_p.G174G	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN	dermal papilla derived protein 13	181							transferase activity			ovary(2)	2						AGCGAGCTGGTTATGATGCTG	0.423													C	40277271	T	C	40277271	2	2	73	1	0	0	0	0	0	0	0	1	2376	1712	60	3		3	C7orf10	7	40277271	Silent	SNP	T	TCGA-BR-8360-01A-11D-2340-08	8594054	40277271	118861392	408	49586											
ABCA13	154664	broad.mit.edu	37	chr7	48431646	48431646	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggacatcctgttggAcaacctcaccgtccgggaac	11	14	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:48431646A>G	uc003toq.2	+	38	11808	c.11783A>G	c.(11782-11784)GAC>GGC	p.D3928G	ABCA13_uc010kys.1_Missense_Mutation_p.D1002G|ABCA13_uc003tos.1_Missense_Mutation_p.D754G|ABCA13_uc010kyt.1_RNA	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3928	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						ATCCTGTTGGACAACCTCACC	0.507													G	48431646	A	G	48431646	3	3	73	1	0	0	0	0	1	0	0	0	31	275	10	3	11762	3	ABCA13	7	48431646	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	8154375	48431646	110707017	409	49587											
ZNF107	51427	broad.mit.edu	37	chr7	64167492	64167492	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaattcatgctggggagaaAccctacaaatgtaaagaatg	10	6	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:64167492A>G	uc003ttd.2	+	7	1596	c.810A>G	c.(808-810)AAA>AAG	p.K270K	ZNF107_uc003tte.2_Silent_p.K270K	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CTGGGGAGAAACCCTACAAAT	0.363													G	64167492	A	G	64167492	2	3	73	1	0	0	0	0	0	0	0	1	17712	40	2	3		3	ZNF107	7	64167492	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	15735846	64167492	94971171	410	49588											
STEAP4	79689	broad.mit.edu	37	chr7	87912360	87912360	+	Frame_Shift_Del	DEL	G	G	-													ccacattggaaatagctgcaGggggtacttttcaatttctt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:87912359_87912359AG>A	uc022agz.1	-	3	804	c.581_581CT>T	c.(580-582)ctgfs	p.L194fs	STEAP4_uc003ujs.3_Frame_Shift_Del_p.L194fs|STEAP4_uc010lek.3_Intron	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	194					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					AAATAGCTGCAGGGGGTACTT	0.408													-	87912360	G	-	87912360	7	5	73	1	0	1	0	1	0	0	0	0	15279	991	35	0	811	0	STEAP4	7	87912360	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	23744868	87912360	71226303	411	49589											
GTPBP10	85865	broad.mit.edu	37	chr7	89984426	89984426	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaataaagaaaatgacagaAttttggtagctcaaggaggt	10	4	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:89984426A>T	uc003ukm.1	+	4	412	c.346A>T	c.(346-348)ATT>TTT	p.I116F	GTPBP10_uc003uki.1_Missense_Mutation_p.I133F|GTPBP10_uc003ukj.1_Missense_Mutation_p.I107F|GTPBP10_uc003ukk.1_Intron|GTPBP10_uc003ukl.1_RNA|GTPBP10_uc003ukn.1_Intron|GTPBP10_uc003uko.1_Intron	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 isoform 2	116					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding				0						AAATGACAGAATTTTGGTAGC	0.318													T	89984426	A	T	89984426	3	4	73	1	0	0	0	0	1	0	0	0	6879	101	4	5	360	5	GTPBP10	7	89984426	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	2072066	89984426	69154237	412	49590											
MTERF	7978	broad.mit.edu	37	chr7	91503062	91503062	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgaatccagaacccgaGgattttcgattatttgtgaa	9	7	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:91503062G>T	uc003ulb.1	-	2	1090	c.1046C>A	c.(1045-1047)CCT>CAT	p.P349H	MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Missense_Mutation_p.P349H|MTERF_uc011khm.1_Missense_Mutation_p.P329H|MTERF_uc010leu.1_Missense_Mutation_p.P329H	NM_006980	NP_008911	Q99551	MTERF_HUMAN	mitochondrial transcription termination factor	349					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding				0	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			CAGAACCCGAGGATTTTCGAT	0.343													T	91503062	G	T	91503062	3	4	73	1	0	0	0	0	1	0	0	0	9918	1000	35	5	157	5	MTERF	7	91503062	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1518636	91503062	67635601	413	49591											
CYP51A1	1595	broad.mit.edu	37	chr7	91752448	91752450	+	In_Frame_Del	DEL	AAG	AAG	-													acaaacctggtcataagttaAaggaggcagattctctccac							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:91752448_91752450delAAG	uc003ulm.3	-	7	1232_1234	c.1070_1072delCTT	c.(1069-1074)CCTTTA>CTA	p.P357del	CYP51A1_uc011khn.1_In_Frame_Del_p.P252del|CYP51A1_uc003uln.3_In_Frame_Del_p.P294del	NM_000786	NP_000777	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A,	351					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity				0	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	TCATAAGTTAAAGGAGGCAGATT	0.365													-	91752450	AAG	-	91752448	7	5	73	1	0	1	0	1	0	0	0	0	4195	11	1	0	473	0	CYP51A1	7	91752448	In_Frame_Del	DEL	AAG	TCGA-BR-8360-01A-11D-2340-08	249386	91752448	67386215	414	49592											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97946561	97946561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgttcatatttgagtgcGtttcggcttccttggctttt	10	7	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:97946561G>A	uc003upj.2	-	6	719	c.456C>T	c.(454-456)AAC>AAT	p.N152N		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	152	Potential.|IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			ovary(1)	1	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			ATTTGAGTGCGTTTCGGCTTC	0.348													A	97946561	G	A	97946561	2	1	73	1	0	0	0	0	0	0	0	1	1302	1136	40	1		1	BAIAP2L1	7	97946561	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	6194113	97946561	61192102	415	49593											
GIGYF1	64599	broad.mit.edu	37	chr7	100279976	100279976	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtggcgctcagcgtgtgCagcatctgctcgcaccactg	12	16	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:100279976C>T	uc003uwg.1	-	21	3739	c.2730G>A	c.(2728-2730)CTG>CTA	p.L910L		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	910										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCAGCGTGTGCAGCATCTGCT	0.677													T	100279976	C	T	100279976	2	4	73	1	0	0	0	0	0	0	0	1	6377	697	25	2		2	GIGYF1	7	100279976	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2333415	100279976	58858687	416	49594											
EMID2	136227	broad.mit.edu	37	chr7	101183269	101183269	+	Frame_Shift_Del	DEL	C	C	-													acctggaatgaggacttcctCcccgacgccatccctcttgc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:101183268_101183268TC>T	uc010lhy.1	+	4	728	c.536_536TC>T	c.(535-537)ctcfs	p.L179fs	EMID2_uc003uyo.1_Frame_Shift_Del_p.L181fs	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	Homo sapiens EMI domain containing 2 (EMID2), mRNA.	181						collagen				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	18	Lung NSC(181;0.215)					GAGGACTTCCTCCCCGACGCC	0.682													-	101183269	C	-	101183269	7	5	73	1	0	1	0	1	0	0	0	0	5092	842	30	0	555	0	EMID2	7	101183269	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	903293	101183269	57955394	417	49595											
LRRC17	10234	broad.mit.edu	37	chr7	102574941	102574941	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaactacgccaagtgtgaaaGtccacaagaacaaaaaaata	7	8	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:102574941G>C	uc003vau.2	+	2	970	c.581G>C	c.(580-582)AGT>ACT	p.S194T	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_Missense_Mutation_p.S194T	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17 isoform 1	194	LRRCT 1.				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				ovary(1)	1						AAGTGTGAAAGTCCACAAGAA	0.413													C	102574941	G	C	102574941	3	2	73	1	0	0	0	0	1	0	0	0	8973	1029	36	5	583	5	LRRC17	7	102574941	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1391672	102574941	56563722	418	49596											
SLC26A5	375611	broad.mit.edu	37	chr7	103018957	103018957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttagcgtacttccgcatgGcctttctccttgctcccatg	7	16	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:103018957G>A	uc003vbz.2	-	17	1957	c.1721C>T	c.(1720-1722)GCC>GTC	p.A574V	SLC26A5_uc003vbt.1_Missense_Mutation_p.A574V|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.A542V|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_Intron	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	574	Cytoplasmic (Potential).|STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						CTTCCGCATGGCCTTTCTCCT	0.478													A	103018957	G	A	103018957	3	1	73	1	0	0	0	0	1	0	0	0	14520	1203	42	2	570	2	SLC26A5	7	103018957	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	444016	103018957	56119706	419	49597											
SRPK2	6733	broad.mit.edu	37	chr7	104766779	104766779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcagctctatgatgtgggCtatgtggtctatggaggaga	15	5	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:104766779C>T	uc003vct.2	-	14	1985	c.1798G>A	c.(1798-1800)GCC>ACC	p.A600T	SRPK2_uc003vcu.2_Missense_Mutation_p.A600T|SRPK2_uc003vcv.2_Missense_Mutation_p.A611T|SRPK2_uc003vcs.1_RNA	NM_182691	NP_872633	P78362	SRPK2_HUMAN	serine/arginine-rich protein-specific kinase 2	600	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						ATGATGTGGGCTATGTGGTCT	0.413													T	104766779	C	T	104766779	3	4	73	1	0	0	0	0	1	0	0	0	15159	797	28	2	276	2	SRPK2	7	104766779	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1747822	104766779	54371884	420	49598											
WNT2	7472	broad.mit.edu	37	chr7	116937798	116937798	+	Frame_Shift_Del	DEL	C	C	-													gttcatgaccacctggatggCcccattgtacttcctccaga							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:116937798delC	uc003viz.2	-	4	1021	c.721delG	c.(721-723)GCCfs	p.A241fs	WNT2_uc003vja.2_Frame_Shift_Del_p.A145fs	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	241					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACCTGGATGGCCCCATTGTAC	0.522													-	116937798	C	-	116937798	7	5	73	1	0	1	0	1	0	0	0	0	17383	739	26	0	369	0	WNT2	7	116937798	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	12171019	116937798	42200865	421	49599											
RNF148	378925	broad.mit.edu	37	chr7	122342670	122342670	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atctcatttccaacctgaaaTgttatattcaggtgagctgt	7	8	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:122342670T>A	uc003vkk.1	-	1	352	c.135A>T	c.(133-135)ACA>ACT	p.T45T	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF148_uc010lkr.1_Silent_p.T45T	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	ring finger protein 148 precursor	45						integral to membrane	zinc ion binding				0						CAACCTGAAATGTTATATTCA	0.443													A	122342670	T	A	122342670	2	1	73	1	0	0	0	0	0	0	0	1	13449	1451	51	5		5	RNF148	7	122342670	Silent	SNP	T	TCGA-BR-8360-01A-11D-2340-08	5404872	122342670	36795993	422	49600											
SND1	27044	broad.mit.edu	37	chr7	127729669	127729669	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtttgcagattccaagggCgatgtggggctgggcttggt	17	7	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:127729669C>T	uc003vmi.2	+	22	2773	c.2547C>T	c.(2545-2547)GGC>GGT	p.G849G	SND1_uc010lle.2_Silent_p.G502G	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	849					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						ATTCCAAGGGCGATGTGGGGC	0.587													T	127729669	C	T	127729669	2	4	73	1	0	0	0	0	0	0	0	1	14844	755	27	1		1	SND1	7	127729669	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	5386999	127729669	31408994	423	49601											
RBM28	55131	broad.mit.edu	37	chr7	127973348	127973349	+	Frame_Shift_Ins	INS	-	-	A													ggcagaaagacatacctgatINSaaaaacagttttcccttcat							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:127973348_127973349insA	uc003vmp.2	-	9	1129_1130	c.1014_1015insT	c.(1012-1017)TTTATCfs	p.F338fs	RBM28_uc003vmo.2_5'UTR|RBM28_uc011koj.1_Frame_Shift_Ins_p.F197fs|RBM28_uc011kok.1_Frame_Shift_Ins_p.F285fs	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	338_339	RRM 3.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			ovary(2)	2						ACATACCTGATAAAAACAGTTT	0.386													A	127973349	-	A	127973348	7	5	73	1	0	1	1	0	0	0	0	0	13128	1406	49	0	1308	0	RBM28	7	127973348	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	243679	127973348	31165315	424	49602	193	2									
RBM28	55131	broad.mit.edu	37	chr7	127973349	127973350	+	Frame_Shift_Ins	INS	-	-	A													gcagaaagacatacctgataINSaaaacagttttcccttcatt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:127973348_127973349T>TA	uc003vmp.2	-	8	1129_1130	c.1014_1015A>TA	c.(1012-1017)tttatcfs	p.F338fs	RBM28_uc011koj.1_Frame_Shift_Ins_p.F197fs|RBM28_uc011kok.1_Frame_Shift_Ins_p.F285fs	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	338	RRM 3.				RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding	p.I339T(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ACATACCTGATAAAAACAGTTT	0.386													A	127973350	-	A	127973349	7	5	73	1	0	1	1	0	0	0	0	0	13128	359	13	0	1309	0	RBM28	7	127973349	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	1	127973349	31165314	425	49603	193	2									
FLNC	2318	broad.mit.edu	37	chr7	128495311	128495311	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcccagacagcccctttgtGgtgcctgtggcctccctctc	9	17	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:128495311G>T	uc003vnz.3	+	43	7403	c.7194G>T	c.(7192-7194)GTG>GTT	p.V2398V	FLNC_uc003voa.3_Silent_p.V2365V	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2398	Filamin 21.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GCCCCTTTGTGGTGCCTGTGG	0.587													T	128495311	G	T	128495311	2	4	73	1	0	0	0	0	0	0	0	1	5935	1335	47	5		5	FLNC	7	128495311	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	521962	128495311	30643352	426	49604											
FLNC	2318	broad.mit.edu	37	chr7	128497221	128497221	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatgccggctcgggggcCttgtctgtcaccattgatgg	14	11	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:128497221C>A	uc003vnz.3	+	46	7820	c.7611C>A	c.(7609-7611)GCC>GCA	p.A2537A	FLNC_uc003voa.3_Silent_p.A2504A	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2537	Interaction with INPPL1.|Filamin 23.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GCTCGGGGGCCTTGTCTGTCA	0.607													A	128497221	C	A	128497221	2	1	73	1	0	0	0	0	0	0	0	1	5935	668	24	5		5	FLNC	7	128497221	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1910	128497221	30641442	427	49605											
PLXNA4	91584	broad.mit.edu	37	chr7	131865401	131865401	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcagctggacatctgAcacggtcacggtgcacggct	14	12	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:131865401A>T	uc003vra.3	-	19	3812	c.3583T>A	c.(3583-3585)TCA>ACA	p.S1195T		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1195	IPT/TIG 4.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						TGGACATCTGACACGGTCACG	0.602													T	131865401	A	T	131865401	3	4	73	1	0	0	0	0	1	0	0	0	12122	275	10	5	2157	5	PLXNA4	7	131865401	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	3368180	131865401	27273262	428	49606											
AKR1B10	57016	broad.mit.edu	37	chr7	134215432	134215432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagaagcagtgaaggtggCcattgatgcaggatatcggc	15	6	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:134215432C>T	uc003vrr.2	+	2	424	c.104C>T	c.(103-105)GCC>GTC	p.A35V		NM_020299	NP_064695	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10	35					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			skin(5)	5						GTGAAGGTGGCCATTGATGCA	0.393													T	134215432	C	T	134215432	3	4	73	1	0	0	0	0	1	0	0	0	467	739	26	2	110	2	AKR1B10	7	134215432	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2350031	134215432	24923231	429	49607											
BRAF	673	broad.mit.edu	37	chr7	140482927	140482928	+	Frame_Shift_Ins	INS	-	-	G													tgagccaggtaatgaggcagINSggggggtagcagacaaacct							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:140482926_140482927A>AG	uc003vwc.4	-	9	1269_1270	c.1208_1209T>CT	c.(1207-1209)cctfs	p.P403fs		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	403					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTAATGAGGCAGGGGGGGTAGC	0.431		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				G	140482928	-	G	140482927	7	5	73	1	0	1	1	0	0	0	0	0	1496	1000	35	0	1128	0	BRAF	7	140482927	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	6267495	140482927	18655736	430	49608											
CNTNAP2	26047	broad.mit.edu	37	chr7	147675067	147675067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgagcgtaggtcctctgcGctgccaaggagacagtaagt	13	9	1	2	rs73464271	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:147675067G>A	uc003weu.1	+	15	2885	c.2369G>A	c.(2368-2370)CGC>CAC	p.R790H		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	790	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGTCCTCTGCGCTGCCAAGGA	0.473										HNSCC(39;0.1)			A	147675067	G	A	147675067	3	1	73	1	0	0	0	0	1	0	0	0	3647	1087	38	1	2427	1	CNTNAP2	7	147675067	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	7192140	147675067	11463596	431	49609											
ZNF746	155061	broad.mit.edu	37	chr7	149191320	149191320	+	Frame_Shift_Del	DEL	G	G	-													gggactcccccttgctgcccGggggcagccgcaggatccag					rs75141970		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:149191319_149191319CG>C	uc010lpi.2	-	1	571	c.300_300CG>G	c.(298-300)ccgfs	p.P100fs	ZNF746_uc003wfw.2_Frame_Shift_Del_p.P100fs	NM_001163474	NP_001156946	Q6NUN9	ZN746_HUMAN	Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA.	100	KRAB.				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCTTGCTGCCCGGGGGCAGCC	0.667													-	149191320	G	-	149191320	7	5	73	1	0	1	0	1	0	0	0	0	18126	1116	39	0	1662	0	ZNF746	7	149191320	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	1516253	149191320	9947343	432	49610											
SSPO	23145	broad.mit.edu	37	chr7	149485459	149485459	+	Frame_Shift_Del	DEL	C	C	-													aggcctgtggccccacgtgtCcccccacctgccatgagcag							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:149485458_149485458TC>T	uc010lpk.3	+	26	3864	c.3864_3864TC>T	c.(3862-3864)tgtfs	p.C1288fs		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1288	TIL 3.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCCACGTGTCCCCCCACCT	0.647													-	149485459	C	-	149485459	7	5	73	1	0	1	0	1	0	0	0	0	15188	855	30	0	3967	0	SSPO	7	149485459	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	294139	149485459	9653204	433	49611											
ZNF862	643641	broad.mit.edu	37	chr7	149558011	149558011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccaaagcacggggaccGtgatattaggcaagtaccgc	11	12	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:149558011G>A	uc010lpn.2	+	7	1954	c.1762G>A	c.(1762-1764)GTG>ATG	p.V588M	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						CACGGGGACCGTGATATTAGG	0.532													A	149558011	G	A	149558011	3	1	73	1	0	0	0	0	1	0	0	0	18192	1145	40	1	1788	1	ZNF862	7	149558011	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	72552	149558011	9580652	434	49612											
ASB10	136371	broad.mit.edu	37	chr7	150873302	150873302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgccctccaggtgggagCggagcgcacagcggctcaaa	16	13	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:150873302C>T	uc003wjm.1	-	5	1562	c.1436G>A	c.(1435-1437)CGC>CAC	p.R479H	ASB10_uc003wjl.1_Missense_Mutation_p.R441H|ASB10_uc003wjn.1_Missense_Mutation_p.R419H	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box-containing 10	434	SOCS box.				intracellular signal transduction						0			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGGTGGGAGCGGAGCGCACA	0.662													T	150873302	C	T	150873302	3	4	73	1	0	0	0	0	1	0	0	0	1014	768	27	1	106	1	ASB10	7	150873302	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1315291	150873302	8265361	435	49613											
MLL3	58508	broad.mit.edu	37	chr7	151917681	151917681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtctgaaggacggccacGctattctgatttataatctt	11	8	3	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:151917681G>A	uc003wla.2	-	23	3858	c.3639C>T	c.(3637-3639)AGC>AGT	p.S1213S	MLL3_uc003wkz.2_Silent_p.S274S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1213					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGACGGCCACGCTATTCTGAT	0.398			N		medulloblastoma								A	151917681	G	A	151917681	2	1	73	1	0	0	0	0	0	0	0	1	9622	1078	38	1		1	MLL3	7	151917681	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1044379	151917681	7220982	436	49614											
HTR5A	3361	broad.mit.edu	37	chr7	154863212	154863212	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgcgagccttcctacgcCgtgttctccaccgtaggcgc	11	17	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:154863212C>T	uc003wlu.1	+	1	667	c.603C>T	c.(601-603)GCC>GCT	p.A201A	uc011kvt.1_5'UTR|uc003wlt.2_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	201	Helical; Name=5; (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTTCCTACGCCGTGTTCTCCA	0.612													T	154863212	C	T	154863212	2	4	73	1	0	0	0	0	0	0	0	1	7450	639	23	1		1	HTR5A	7	154863212	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2945531	154863212	4275451	437	49615											
CSMD1	64478	broad.mit.edu	37	chr8	3611465	3611465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttaccttggaactgagcGttaaatcctttgcgtcggtg	10	10	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:3611465G>A	uc011kwk.1	-	6	1308	c.918C>T	c.(916-918)AAC>AAT	p.N306N		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	306	Extracellular (Potential).|CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGAACTGAGCGTTAAATCCTT	0.418													A	3611465	G	A	3611465	2	1	73	1	0	0	0	0	0	0	0	1	3944	1136	40	1		1	CSMD1	8	3611465	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08		3611465	142752557	438	49616											
MFHAS1	9258	broad.mit.edu	37	chr8	8749608	8749608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccagccacaaggtgagaaGccggcccaggcccgagataa	12	13	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:8749608G>A	uc003wsj.1	-	1	1524	c.961C>T	c.(961-963)CTT>TTT	p.L321F		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	321	LRR 12.										0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		AAGGTGAGAAGCCGGCCCAGG	0.637													A	8749608	G	A	8749608	3	1	73	1	0	0	0	0	1	0	0	0	9521	971	34	2	2209	2	MFHAS1	8	8749608	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	5138143	8749608	137614414	439	49617											
FAM167A	83648	broad.mit.edu	37	chr8	11282136	11282136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttgctggtcctgcagccGcatctccgtctggaagggag	14	12	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:11282136G>A	uc010lry.1	-	3	1011	c.391C>T	c.(391-393)CGG>TGG	p.R131W	C8orf12_uc003wtu.2_Intron|C8orf12_uc003wtv.2_Intron|FAM167A_uc003wtw.2_Missense_Mutation_p.R131W	NM_053279	NP_444509	Q96KS9	F167A_HUMAN	hypothetical protein LOC83648	131	Potential.										0						TCCTGCAGCCGCATCTCCGTC	0.607													A	11282136	G	A	11282136	3	1	73	1	0	0	0	0	1	0	0	0	5483	1086	38	1	257	1	FAM167A	8	11282136	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2532528	11282136	135081886	440	49618											
DLC1	10395	broad.mit.edu	37	chr8	12956978	12956978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgggtgtggttcggtcGttgtccacatccaggtgtat	14	9	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:12956978G>A	uc003wwm.2	-	9	3312	c.2868C>T	c.(2866-2868)AAC>AAT	p.N956N	DLC1_uc003wwk.1_Silent_p.N519N|DLC1_uc003wwl.1_Silent_p.N553N|DLC1_uc011kxx.1_Silent_p.N445N	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	956					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TGGTTCGGTCGTTGTCCACAT	0.582													A	12956978	G	A	12956978	2	1	73	1	0	0	0	0	0	0	0	1	4550	1136	40	1		1	DLC1	8	12956978	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1674842	12956978	133407044	441	49619											
ADRA1A	148	broad.mit.edu	37	chr8	26627887	26627887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaatttccattcacaaaCgccatccgtcttggagatcc	6	12	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:26627887C>T	uc003xfh.1	-	2	1616	c.1180G>A	c.(1180-1182)GTT>ATT	p.V394I	ADRA1A_uc003xfc.1_Missense_Mutation_p.V394I|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.V394I|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.V394I	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	394	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CATTCACAAACGCCATCCGTC	0.552													T	26627887	C	T	26627887	3	4	73	1	0	0	0	0	1	0	0	0	334	536	19	1	515	1	ADRA1A	8	26627887	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	13670909	26627887	119736135	442	49620											
FZD3	7976	broad.mit.edu	37	chr8	28385159	28385160	+	Frame_Shift_Ins	INS	-	-	T													tgctttttatgatactctatINSttttttactatggctggcag							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:28385158_28385159A>AT	uc003xgx.3	+	4	1410_1411	c.881_882A>AT	c.(880-882)tatfs	p.Y294fs	FZD3_uc010lvb.3_Frame_Shift_Ins_p.Y294fs	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN	Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.	294					G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		ATGATACTCTATTTTTTTACTA	0.421													T	28385160	-	T	28385159	7	5	73	1	0	1	1	0	0	0	0	0	6131	1500	52	0	892	0	FZD3	8	28385159	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	1757272	28385159	117978863	443	49621											
HMBOX1	79618	broad.mit.edu	37	chr8	28827712	28827712	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgatcaagagcatagtgAcaagtttggaagaaggtcca	11	6	2	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:28827712A>G	uc003xhd.3	+	3	518	c.176A>G	c.(175-177)GAC>GGC	p.D59G	HMBOX1_uc010lvd.2_Missense_Mutation_p.D59G|HMBOX1_uc003xhc.3_Missense_Mutation_p.D59G|HMBOX1_uc010lve.2_RNA|HMBOX1_uc003xhe.2_Missense_Mutation_p.D59G|HMBOX1_uc011lay.1_Missense_Mutation_p.D59G|HMBOX1_uc003xhf.2_Missense_Mutation_p.D47G|HMBOX1_uc003xhg.2_Missense_Mutation_p.D47G	NM_001135726	NP_001129198	Q6NT76	HMBX1_HUMAN	homeobox containing 1	59					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		GAGCATAGTGACAAGTTTGGA	0.453													G	28827712	A	G	28827712	3	3	73	1	0	0	0	0	1	0	0	0	7218	275	10	3	182	3	HMBOX1	8	28827712	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	442553	28827712	117536310	444	49622											
ERLIN2	11160	broad.mit.edu	37	chr8	37607921	37607921	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcttcagggaaagtgAgaagacaaagcttctcattg	9	8	4	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:37607921A>G	uc003xke.3	+	9	681	c.566A>G	c.(565-567)GAG>GGG	p.E189G	LOC728024_uc010lvx.1_5'Flank	NM_007175	NP_009106	O94905	ERLN2_HUMAN	ER lipid raft associated 2 isoform 1	189	Interaction with ERLIN1.|Lumenal (Potential).				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding				0		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGGGAAAGTGAGAAGACAAAG	0.493													G	37607921	A	G	37607921	3	3	73	1	0	0	0	0	1	0	0	0	5233	304	11	3	635	3	ERLIN2	8	37607921	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	8780209	37607921	108756101	445	49623											
GPR124	25960	broad.mit.edu	37	chr8	37691605	37691605	+	Frame_Shift_Del	DEL	G	G	-													tgggtgccctggagcgcattGggggggccgccctcagcccc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:37691604_37691604TG>T	uc003xkj.3	+	10	1952	c.1566_1566TG>T	c.(1564-1566)attfs	p.I522fs	GPR124_uc010lvy.3_Frame_Shift_Del_p.I522fs	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	522					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGGAGCGCATTGGGGGGGCCG	0.687													-	37691605	G	-	37691605	7	5	73	1	0	1	0	1	0	0	0	0	6638	1348	47	0	1588	0	GPR124	8	37691605	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	83684	37691605	108672417	446	49624											
ADAM32	203102	broad.mit.edu	37	chr8	39022629	39022629	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataagatttctacagttggTgaggcagatgaattattgca	10	4	1	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:39022629T>C	uc003xmt.3	+	9	992	c.747T>C	c.(745-747)GGT>GGC	p.G249G	ADAM32_uc011lch.1_Silent_p.G256G|ADAM32_uc003xmu.3_Silent_p.G249G	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	a disintegrin and metalloprotease domain 32	249	Peptidase M12B.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CTACAGTTGGTGAGGCAGATG	0.303													C	39022629	T	C	39022629	2	2	73	1	0	0	0	0	0	0	0	1	249	1683	59	3		3	ADAM32	8	39022629	Silent	SNP	T	TCGA-BR-8360-01A-11D-2340-08	1331024	39022629	107341393	447	49625											
ANK1	286	broad.mit.edu	37	chr8	41530179	41530179	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccaacttccactcgtgacCtgtggcatcagagtcctcag	8	15	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:41530179C>A	uc003xok.2	-	38	4873	c.4789G>T	c.(4789-4791)GGT>TGT	p.G1597C	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.G1597C|ANK1_uc003xoj.2_Missense_Mutation_p.G1597C|ANK1_uc003xol.2_Intron|ANK1_uc003xom.2_Missense_Mutation_p.G1638C	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1597	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CACTCGTGACCTGTGGCATCA	0.602													A	41530179	C	A	41530179	3	1	73	1	0	0	0	0	1	0	0	0	620	681	24	5	1202	5	ANK1	8	41530179	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2507550	41530179	104833843	448	49626											
DKK4	27121	broad.mit.edu	37	chr8	42231818	42231818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aattttcgtccaaaaatgacGagcacagcaaagtccagggc	9	10	0	1	rs140976265		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:42231818G>A	uc003xpb.2	-	4	586	c.475C>T	c.(475-477)CGT>TGT	p.R159C		NM_014420	NP_055235	Q9UBT3	DKK4_HUMAN	dickkopf homolog 4 precursor	159	DKK-type Cys-2.				multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				ovary(1)	1	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			CAAAAATGACGAGCACAGCAA	0.448													A	42231818	G	A	42231818	3	1	73	1	0	0	0	0	1	0	0	0	4547	1058	37	1	203	1	DKK4	8	42231818	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	701639	42231818	104132204	449	49627											
KIAA0146	23514	broad.mit.edu	37	chr8	48353071	48353071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggctacctcaggggccGtccccaggacactgtccgga	13	15	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:48353071G>A	uc003xqd.2	+	8	1073	c.1064G>A	c.(1063-1065)CGT>CAT	p.R355H	KIAA0146_uc011lcz.1_RNA|KIAA0146_uc011lda.1_Missense_Mutation_p.R44H|KIAA0146_uc011ldb.1_Missense_Mutation_p.R355H|KIAA0146_uc010lxs.2_5'UTR|KIAA0146_uc011ldc.1_Missense_Mutation_p.R285H|KIAA0146_uc011ldd.1_Missense_Mutation_p.R295H|KIAA0146_uc003xqe.2_5'UTR|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Missense_Mutation_p.R44H|KIAA0146_uc010lxt.2_Missense_Mutation_p.R44H	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	355											0		Lung NSC(58;0.175)				CTCAGGGGCCGTCCCCAGGAC	0.572													A	48353071	G	A	48353071	3	1	73	1	0	0	0	0	1	0	0	0	8157	1145	40	1	1094	1	KIAA0146	8	48353071	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	6121253	48353071	98010951	450	49628											
PRKDC	5591	broad.mit.edu	37	chr8	48743276	48743276	+	Frame_Shift_Del	DEL	T	T	-													gacctgggcatcctgcttcaTttttaactcactcttgattt					rs67313876		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:48743276delT	uc003xqi.2	-	62	8344	c.8287delA	c.(8287-8289)ATGfs	p.M2763fs	PRKDC_uc003xqj.2_Frame_Shift_Del_p.M2763fs|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2763	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCCTGCTTCATTTTTAACTCA	0.483								NHEJ					-	48743276	T	-	48743276	7	5	73	1	0	1	0	1	0	0	0	0	12521	1493	52	0	4203	0	PRKDC	8	48743276	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	390205	48743276	97620746	451	49629											
PXDNL	137902	broad.mit.edu	37	chr8	52258393	52258393	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgagatatttctatacatacCtacttcttagatgacttaac	4	8	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:52258393C>G	uc003xqu.3	-	20	4117	c.4016G>C	c.(4015-4017)AGG>ACG	p.R1339T	PXDNL_uc003xqt.3_Intron	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1339					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTATACATACCTACTTCTTAG	0.348													G	52258393	C	G	52258393	3	3	73	1	0	0	0	0	1	0	0	0	12848	695	24	5	391	5	PXDNL	8	52258393	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3515117	52258393	94105629	452	49630											
TERF1	7013	broad.mit.edu	37	chr8	73942591	73942591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttagtgacaaacagtctgCggtaactgaatcctcagagg	11	8	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:73942591C>T	uc003xzd.2	+	7	933	c.908C>T	c.(907-909)GCG>GTG	p.A303V	TERF1_uc003xze.2_Intron	NM_017489	NP_059523	P54274	TERF1_HUMAN	telomeric repeat binding factor 1 isoform 1	303	Interaction with RLIM.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			ovary(1)|lung(1)|skin(1)	3	Breast(64;0.218)		Epithelial(68;0.0984)			AAACAGTCTGCGGTAACTGAA	0.333													T	73942591	C	T	73942591	3	4	73	1	0	0	0	0	1	0	0	0	15758	768	27	1	934	1	TERF1	8	73942591	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	21684198	73942591	72421431	453	49631											
ZBTB10	65986	broad.mit.edu	37	chr8	81399898	81399898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgcagatgggggaagcGtggaccttcccccagtgggg	16	13	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:81399898G>A	uc003ybx.3	+	1	1451	c.853G>A	c.(853-855)GTG>ATG	p.V285M	ZBTB10_uc003ybv.3_Intron|ZBTB10_uc003ybw.3_Missense_Mutation_p.V285M|ZBTB10_uc010lzt.2_Missense_Mutation_p.V285M	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10 isoform	285					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)	1	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TGGGGGAAGCGTGGACCTTCC	0.577													A	81399898	G	A	81399898	3	1	73	1	0	0	0	0	1	0	0	0	17520	1145	40	1	855	1	ZBTB10	8	81399898	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	7457307	81399898	64964124	454	49632											
GDF6	392255	broad.mit.edu	37	chr8	97156923	97156923	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgggcggggtggagccGgggtccatggagttcatcag	19	9	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:97156923G>A	uc003yhp.2	-	2	1336	c.1236C>T	c.(1234-1236)CCC>CCT	p.P412P		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	412					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					GGGTGGAGCCGGGGTCCATGG	0.597													A	97156923	G	A	97156923	2	1	73	1	0	0	0	0	0	0	0	1	6317	1103	39	1		1	GDF6	8	97156923	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	15757025	97156923	49207099	455	49633											
MATN2	4147	broad.mit.edu	37	chr8	98943442	98943442	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatctgtccacgggcaccaTgactgggctggccatccagt	12	14	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:98943442T>G	uc003yic.2	+	3	635	c.404T>G	c.(403-405)ATG>AGG	p.M135R	MATN2_uc003yib.1_Missense_Mutation_p.M135R|MATN2_uc010mbh.1_Missense_Mutation_p.M135R|MATN2_uc003yid.2_Missense_Mutation_p.M135R|MATN2_uc003yie.1_Missense_Mutation_p.M135R|MATN2_uc010mbi.1_Missense_Mutation_p.M9R	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	135	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			ACGGGCACCATGACTGGGCTG	0.582													G	98943442	T	G	98943442	3	3	73	1	0	0	0	0	1	0	0	0	9334	1464	51	5	410	5	MATN2	8	98943442	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	1786519	98943442	47420580	456	49634											
VPS13B	157680	broad.mit.edu	37	chr8	100287380	100287380	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagaccttcatagcaccAagtggctcaatgagagtaga	9	9	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:100287380A>G	uc003yiv.2	+	19	2833	c.2722A>G	c.(2722-2724)AAG>GAG	p.K908E	VPS13B_uc003yiw.2_Missense_Mutation_p.K908E|VPS13B_uc003yiu.1_Missense_Mutation_p.K908E|VPS13B_uc003yix.1_Missense_Mutation_p.K379E	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	908					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCATAGCACCAAGTGGCTCAA	0.383													G	100287380	A	G	100287380	3	3	73	1	0	0	0	0	1	0	0	0	17187	131	5	3	2915	3	VPS13B	8	100287380	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	1343938	100287380	46076642	457	49635											
RNF19A	25897	broad.mit.edu	37	chr8	101271170	101271170	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	catactgtcactgagggatgGagcctcaaattcacttgagt	10	9	3	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:101271170G>T	uc003yjj.1	-	11	2448	c.2131C>A	c.(2131-2133)CCA>ACA	p.P711T	RNF19A_uc003yjk.1_Missense_Mutation_p.P711T	NM_015435	NP_056250	Q9NV58	RN19A_HUMAN	ring finger protein 19	711	Interaction with CASR.				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CTGAGGGATGGAGCCTCAAAT	0.403											OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	101271170	G	T	101271170	3	4	73	1	0	0	0	0	1	0	0	0	13470	1174	41	5	389	5	RNF19A	8	101271170	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	983790	101271170	45092852	458	49636											
DCAF13	25879	broad.mit.edu	37	chr8	104432506	104432506	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttcagttccaagaaactatGatcctgctttacatcctttt	4	10	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:104432506G>T	uc003yln.2	+	2	818	c.541G>T	c.(541-543)GAT>TAT	p.D181Y	DCAF13_uc003ylm.1_Intron|DCAF13_uc003ylo.2_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	29					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						AAGAAACTATGATCCTGCTTT	0.363													T	104432506	G	T	104432506	3	4	73	1	0	0	0	0	1	0	0	0	4266	1290	45	5	547	5	DCAF13	8	104432506	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	3161336	104432506	41931516	459	49637											
RIMS2	9699	broad.mit.edu	37	chr8	105105702	105105702	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaatctgtgttaacagtatCgatcaggatgggatcctcat	9	8	4	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:105105702C>T	uc003yls.2	+	21	2966	c.2725C>T	c.(2725-2727)CGA>TGA	p.R909*	RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R982*|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	365					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTAACAGTATCGATCAGGATG	0.388										HNSCC(12;0.0054)			T	105105702	C	T	105105702	4	4	73	1	0	0	0	0	0	1	0	0	13368	899	31	1		1	RIMS2	8	105105702	Nonsense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	673196	105105702	41258320	460	49638											
LRP12	29967	broad.mit.edu	37	chr8	105509814	105509814	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaagcttgtgtggattctcCtctaatccatcatatatttt	5	8	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:105509814C>A	uc003yma.2	-	5	1061	c.966G>T	c.(964-966)GAG>GAT	p.E322D	LRP12_uc003ymb.2_Missense_Mutation_p.E303D|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	322	Extracellular (Potential).|CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTGGATTCTCCTCTAATCCAT	0.383													A	105509814	C	A	105509814	3	1	73	1	0	0	0	0	1	0	0	0	8954	680	24	5	1625	5	LRP12	8	105509814	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	404112	105509814	40854208	461	49639											
SLC30A8	169026	broad.mit.edu	37	chr8	118170071	118170071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtttccagctgcgcagtggCggccaacattgtgtaagtca	12	11	1	0	rs141202988		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:118170071C>T	uc003yoh.2	+	4	790	c.560C>T	c.(559-561)GCG>GTG	p.A187V	SLC30A8_uc010mcz.2_Missense_Mutation_p.A138V|SLC30A8_uc011lia.1_Missense_Mutation_p.A138V|SLC30A8_uc003yog.2_Missense_Mutation_p.A138V	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	187	Helical; (Potential).				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	p.A187V(1)		ovary(2)|skin(2)	4	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGCGCAGTGGCGGCCAACATT	0.517													T	118170071	C	T	118170071	3	4	73	1	0	0	0	0	1	0	0	0	14561	768	27	1	574	1	SLC30A8	8	118170071	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	12660257	118170071	28193951	462	49640											
MED30	90390	broad.mit.edu	37	chr8	118540959	118540959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaagctacaggataatcttCgccaactttcagttctcttc	5	12	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:118540959C>T	uc003yoj.2	+	2	398	c.247C>T	c.(247-249)CGC>TGC	p.R83C	MED30_uc011lib.1_Missense_Mutation_p.R83C	NM_080651	NP_542382	Q96HR3	MED30_HUMAN	TRAP/Mediator complex component TRAP25	83	Potential.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding				0	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			GGATAATCTTCGCCAACTTTC	0.393													T	118540959	C	T	118540959	3	4	73	1	0	0	0	0	1	0	0	0	9448	884	31	1	253	1	MED30	8	118540959	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	370888	118540959	27823063	463	49641											
MTBP	27085	broad.mit.edu	37	chr8	121463538	121463538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaagaagacagtaataGcagggaatcattatccttgg	11	5	1	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:121463538G>A	uc003ypc.1	+	4	446	c.401G>A	c.(400-402)AGC>AAC	p.S134N	MTBP_uc003ypb.1_Missense_Mutation_p.S134N|MTBP_uc011lie.1_RNA	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53	134					cell cycle arrest					skin(2)|ovary(1)	3	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GACAGTAATAGCAGGGAATCA	0.299													A	121463538	G	A	121463538	3	1	73	1	0	0	0	0	1	0	0	0	9912	971	34	2	415	2	MTBP	8	121463538	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2922579	121463538	24900484	464	49642											
ATAD2	29028	broad.mit.edu	37	chr8	124361578	124361578	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaaagcgaccaggccttcGtaaagcaggatctatagaat	9	9	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:124361578G>A	uc003yqh.3	-	14	1861	c.1753C>T	c.(1753-1755)CGA>TGA	p.R585*	ATAD2_uc011lii.1_Nonsense_Mutation_p.R376*|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Nonsense_Mutation_p.R585*|MIR548D1_hsa-mir-548d-1|MI0003668_5'Flank	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CCAGGCCTTCGTAAAGCAGGA	0.413													A	124361578	G	A	124361578	4	1	73	1	0	0	0	0	0	1	0	0	1071	1153	40	1	2479	1	ATAD2	8	124361578	Nonsense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2898040	124361578	22002444	465	49643											
RNF139	11236	broad.mit.edu	37	chr8	125499067	125499067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtagacattttcctgtgCtgtttgtctctgcttgcctg	9	10	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:125499067C>T	uc003yrc.2	+	2	1520	c.1177C>T	c.(1177-1179)CTG>TTG	p.L393L		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	393	Helical; (Potential).				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTTCCTGTGCTGTTTGTCTC	0.398									Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3				T	125499067	C	T	125499067	2	4	73	1	0	0	0	0	0	0	0	1	13442	796	28	2		2	RNF139	8	125499067	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1137489	125499067	20864955	466	49644											
ZNF572	137209	broad.mit.edu	37	chr8	125989004	125989004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttataaatgctctgagtGtgcaaaatgtttttgtaaca	8	6	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:125989004G>A	uc003yrr.2	+	3	649	c.494G>A	c.(493-495)TGT>TAT	p.C165Y		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	165	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TGCTCTGAGTGTGCAAAATGT	0.423										HNSCC(60;0.17)			A	125989004	G	A	125989004	3	1	73	1	0	0	0	0	1	0	0	0	18001	1377	48	4	500	4	ZNF572	8	125989004	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	489937	125989004	20375018	467	49645											
ADCY8	114	broad.mit.edu	37	chr8	131848643	131848643	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttcaggacggagttcagcCggaggaaaactgcacaggtc	14	10	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:131848643C>A	uc003ytd.3	-	12	2811	c.2555G>T	c.(2554-2556)CGG>CTG	p.R852L	ADCY8_uc010mds.2_Missense_Mutation_p.R721L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	852					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGAGTTCAGCCGGAGGAAAAC	0.542										HNSCC(32;0.087)			A	131848643	C	A	131848643	3	1	73	1	0	0	0	0	1	0	0	0	300	652	23	5	1228	5	ADCY8	8	131848643	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	5859639	131848643	14515379	468	49646											
PHF20L1	51105	broad.mit.edu	37	chr8	133836264	133836265	+	Frame_Shift_Ins	INS	-	-	A													acaggaatatcgaaaacagaINSaaaaaaagtgaaattggaag							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:133836263_133836264G>GA	uc003ytt.3	+	12	1919_1920	c.1594_1595G>GA	c.(1594-1596)gaafs	p.E532fs	PHF20L1_uc003yts.3_Frame_Shift_Ins_p.E532fs|PHF20L1_uc011lja.2_Frame_Shift_Ins_p.E506fs|PHF20L1_uc003ytu.1_Non-coding_Transcript	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	532	Lys-rich.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ATCGAAAACAGAAAAAAAAGTG	0.317													A	133836265	-	A	133836264	7	5	73	1	0	1	1	0	0	0	0	0	11832	246	9	0	1647	0	PHF20L1	8	133836264	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	1987621	133836264	12527758	469	49647											
DENND3	22898	broad.mit.edu	37	chr8	142186754	142186754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactttaaaaatcagagtggCgtccaagaaagaagtcttcg	9	8	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:142186754C>T	uc003yvy.2	+	15	2638	c.2360C>T	c.(2359-2361)GCG>GTG	p.A787V	DENND3_uc010mep.2_Missense_Mutation_p.A748V	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	787										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ATCAGAGTGGCGTCCAAGAAA	0.478													T	142186754	C	T	142186754	3	4	73	1	0	0	0	0	1	0	0	0	4432	768	27	1	2414	1	DENND3	8	142186754	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	8350490	142186754	4177268	470	49648											
CYP11B2	1585	broad.mit.edu	37	chr8	143995763	143995763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccttcaacaggagctccgCcacgatgcctgtgtagtgtt	11	13	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:143995763C>T	uc003yxk.1	-	5	874	c.871G>A	c.(871-873)GCG>ACG	p.A291T		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	291					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	AGGAGCTCCGCCACGATGCCT	0.572									Familial_Hyperaldosteronism_type_I				T	143995763	C	T	143995763	3	4	73	1	0	0	0	0	1	0	0	0	4146	739	26	2	660	2	CYP11B2	8	143995763	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1809009	143995763	2368259	471	49649											
LY6E	4061	broad.mit.edu	37	chr8	144103156	144103156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcgtcaccctgctgggtGccgggctgctgctgagcctg	15	14	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:144103156G>A	uc003yxn.2	+	4	500	c.346G>A	c.(346-348)GCC>ACC	p.A116T	LY6E_uc003yxm.2_Missense_Mutation_p.A116T|LY6E_uc003yxo.2_RNA	NM_001127213	NP_001120685	Q16553	LY6E_HUMAN	lymphocyte antigen 6 complex, locus E precursor	116					cell surface receptor linked signaling pathway	anchored to membrane|integral to plasma membrane					0	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCTGCTGGGTGCCGGGCTGCT	0.672													A	144103156	G	A	144103156	3	1	73	1	0	0	0	0	1	0	0	0	9091	1319	46	2	356	2	LY6E	8	144103156	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	107393	144103156	2260866	472	49650											
C8orf31	286122	broad.mit.edu	37	chr8	144126111	144126111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggactcactgccaaagacGctcactttctgggagacaca	10	12	3	2	rs137944456		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:144126111G>A	uc003yxp.1	+	4	584	c.232G>A	c.(232-234)GCT>ACT	p.A78T	C8orf31_uc003yxq.1_RNA|C8orf31_uc003yxr.1_RNA	NM_173687	NP_775958	Q8N9H6	CH031_HUMAN	hypothetical protein LOC286122	78										ovary(1)	1	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGCCAAAGACGCTCACTTTCT	0.617													A	144126111	G	A	144126111	3	1	73	1	0	0	0	0	1	0	0	0	2420	1087	38	1	242	1	C8orf31	8	144126111	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	22955	144126111	2237911	473	49651											
FAM83H	286077	broad.mit.edu	37	chr8	144810317	144810317	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctggaagcggaagtcgtcGccgtggctgaggaacgtctg	17	9	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:144810317G>A	uc003yzk.2	-	5	1383	c.1314C>T	c.(1312-1314)GGC>GGT	p.G438G	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	438					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGAAGTCGTCGCCGTGGCTGA	0.706													A	144810317	G	A	144810317	2	1	73	1	0	0	0	0	0	0	0	1	5640	1074	38	1		1	FAM83H	8	144810317	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	684206	144810317	1553705	474	49652											
NRBP2	340371	broad.mit.edu	37	chr8	144919465	144919465	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccatgaaggagacttcCgagtacctggcatggaagtg	13	9	0	2	rs141817014		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:144919465C>T	uc011lkt.1	-	13	1223	c.1083G>A	c.(1081-1083)TCG>TCA	p.S361S	NRBP2_uc003yzv.2_Silent_p.S118S|NRBP2_uc003yzz.1_5'Flank|NRBP2_uc003yzw.2_Silent_p.S153S|NRBP2_uc010mfl.2_Silent_p.S153S|NRBP2_uc010mfm.2_Silent_p.S118S|NRBP2_uc011lks.1_Silent_p.S118S|NRBP2_uc003yzy.2_Silent_p.S118S	NM_178564	NP_848659	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	361					negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)	2	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGGAGACTTCCGAGTACCTGG	0.473													T	144919465	C	T	144919465	2	4	73	1	0	0	0	0	0	0	0	1	10643	639	23	1		1	NRBP2	8	144919465	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	109148	144919465	1444557	475	49653											
PLEC	5339	broad.mit.edu	37	chr8	144993912	144993912	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgtcctccaggtagatGccggcgaggcagccactgcc	14	13	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:144993912G>A	uc003zaf.1	-	32	10658	c.10488C>T	c.(10486-10488)GGC>GGT	p.G3496G	PLEC_uc003zab.1_Silent_p.G3359G|PLEC_uc003zac.1_Silent_p.G3363G|PLEC_uc003zad.2_Silent_p.G3359G|PLEC_uc003zae.1_Silent_p.G3327G|PLEC_uc003zag.1_Silent_p.G3337G|PLEC_uc003zah.2_Silent_p.G3345G|PLEC_uc003zaj.2_Silent_p.G3386G	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3496	Plectin 12.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCAGGTAGATGCCGGCGAGGC	0.662													A	144993912	G	A	144993912	2	1	73	1	0	0	0	0	0	0	0	1	12052	1306	46	2		2	PLEC	8	144993912	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	74447	144993912	1370110	476	49654											
PLEC	5339	broad.mit.edu	37	chr8	144996889	144996889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcttccggaagcgctggGcgtcctcctcagcgcgggcc	14	17	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:144996889G>A	uc003zaf.1	-	31	7789	c.7619C>T	c.(7618-7620)GCC>GTC	p.A2540V	PLEC_uc003zab.1_Missense_Mutation_p.A2403V|PLEC_uc003zac.1_Missense_Mutation_p.A2407V|PLEC_uc003zad.2_Missense_Mutation_p.A2403V|PLEC_uc003zae.1_Missense_Mutation_p.A2371V|PLEC_uc003zag.1_Missense_Mutation_p.A2381V|PLEC_uc003zah.2_Missense_Mutation_p.A2389V|PLEC_uc003zaj.2_Missense_Mutation_p.A2430V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2540	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GAAGCGCTGGGCGTCCTCCTC	0.687													A	144996889	G	A	144996889	3	1	73	1	0	0	0	0	1	0	0	0	12052	1203	42	2	6443	2	PLEC	8	144996889	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2977	144996889	1367133	477	49655											
PLEC	5339	broad.mit.edu	37	chr8	145002109	145002109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcctcgtgggccctgagCacctcctcggccccctgcgt	11	19	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:145002109C>T	uc003zaf.1	-	26	3893	c.3723G>A	c.(3721-3723)GTG>GTA	p.V1241V	PLEC_uc003zab.1_Silent_p.V1104V|PLEC_uc003zac.1_Silent_p.V1108V|PLEC_uc003zad.2_Silent_p.V1104V|PLEC_uc003zae.1_Silent_p.V1072V|PLEC_uc003zag.1_Silent_p.V1082V|PLEC_uc003zah.2_Silent_p.V1090V|PLEC_uc003zaj.2_Silent_p.V1131V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1241	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GGGCCCTGAGCACCTCCTCGG	0.677													T	145002109	C	T	145002109	2	4	73	1	0	0	0	0	0	0	0	1	12052	697	25	2		2	PLEC	8	145002109	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	5220	145002109	1361913	478	49656											
OPLAH	26873	broad.mit.edu	37	chr8	145113453	145113453	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacgtagcgctggatggcGggcgtgaggtaggcgtcggc	20	9	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:145113453G>A	uc003zar.3	-	6	811	c.729C>T	c.(727-729)CCC>CCT	p.P243P	OPLAH_uc003zat.1_Silent_p.P21P	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	243							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GCTGGATGGCGGGCGTGAGGT	0.687													A	145113453	G	A	145113453	2	1	73	1	0	0	0	0	0	0	0	1	10876	1103	39	1		1	OPLAH	8	145113453	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	111344	145113453	1250569	479	49657											
VPS28	51160	broad.mit.edu	37	chr8	145649444	145649444	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggctgaccgtctggcgGccctcaaagtcgggtgggag	16	12	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:145649444G>A	uc003zcr.1	-	8	581	c.528C>T	c.(526-528)GGC>GGT	p.G176G	VPS28_uc003zcs.1_Silent_p.G176G|VPS28_uc003zct.1_Silent_p.G176G	NM_016208	NP_057292	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 isoform 1	176	VPS28 C-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCGTCTGGCGGCCCTCAAAGT	0.697													A	145649444	G	A	145649444	2	1	73	1	0	0	0	0	0	0	0	1	17196	1190	42	2		2	VPS28	8	145649444	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	535991	145649444	714578	480	49658											
PPP1R16A	84988	broad.mit.edu	37	chr8	145726929	145726929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccccgaagtggtcaggccGcacaatggccgagtaggggg	16	11	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:145726929G>A	uc003zdd.2	+	11	2143	c.1230G>A	c.(1228-1230)CCG>CCA	p.P410P	uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Silent_p.P410P|GPT_uc011lli.1_5'Flank|GPT_uc011llj.1_5'Flank|GPT_uc003zdh.3_5'Flank	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	410						plasma membrane	protein binding				0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGGTCAGGCCGCACAATGGCC	0.647													A	145726929	G	A	145726929	2	1	73	1	0	0	0	0	0	0	0	1	12365	1074	38	1		1	PPP1R16A	8	145726929	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	77485	145726929	637093	481	49659											
LRRC24	441381	broad.mit.edu	37	chr8	145747941	145747941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggccgcagtcagcgggcGcctccgccggaccctcggcg	16	19	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:145747941G>A	uc003zdm.2	-	5	1592	c.1460C>T	c.(1459-1461)GCG>GTG	p.A487V	LRRC24_uc003zdn.2_Missense_Mutation_p.A484V|LRRC14_uc003zdk.1_3'UTR|LRRC14_uc003zdl.1_3'UTR|LRRC14_uc003zdo.2_5'Flank	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24 precursor	487						integral to membrane					0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTCAGCGGGCGCCTCCGCCGG	0.726													A	145747941	G	A	145747941	3	1	73	1	0	0	0	0	1	0	0	0	8979	1087	38	1	85	1	LRRC24	8	145747941	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	21012	145747941	616081	482	49660											
ZNF16	7564	broad.mit.edu	37	chr8	146157244	146157244	+	Frame_Shift_Del	DEL	T	T	-													tcatgtgagacttttggtgcTttttaaggctcgagttctgg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:146157243_146157243CT>C	uc003zet.3	-	3	1117	c.930_930AG>G	c.(928-930)aagfs	p.K310fs	ZNF16_uc003zeu.3_Frame_Shift_Del_p.K310fs	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		ACTTTTGGTGCTTTTTAAGGC	0.443													-	146157244	T	-	146157244	7	5	73	1	0	1	0	1	0	0	0	0	17735	1609	56	0	1123	0	ZNF16	8	146157244	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	409303	146157244	206778	483	49661											
DMRT1	1761	broad.mit.edu	37	chr9	841907	841907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcacgcccccggggtaccGccgcagggcagagccggggg	17	17	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:841907G>A	uc003zgv.2	+	1	218	c.69G>A	c.(67-69)CCG>CCA	p.P23P	DMRT1_uc003zgu.1_Silent_p.P23P	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor	23					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		CCGGGGTACCGCCGCAGGGCA	0.716													A	841907	G	A	841907	2	1	73	1	0	0	0	0	0	0	0	1	4585	1074	38	1		1	DMRT1	9	841907	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08		841907	140371524	484	49662											
RLN1	6013	broad.mit.edu	37	chr9	5335330	5335330	+	Frame_Shift_Del	DEL	T	T	-													gtgccacgtagggtcgtctcTttttttgagaatgagtatcc					rs149069258		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:5335329_5335329CT>C	uc003zjb.1	-	1	607	c.480_480AG>G	c.(478-480)aagfs	p.K160fs		NM_006911	NP_008842	P04808	REL1_HUMAN	Homo sapiens relaxin 1 (RLN1), mRNA.	160					female pregnancy|signal transduction	extracellular region	hormone activity			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		AGGGTCGTCTCTTTTTTTGAG	0.383													-	5335330	T	-	5335330	7	5	73	1	0	1	0	1	0	0	0	0	13391	1609	56	0	82	0	RLN1	9	5335330	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	4493423	5335330	135878101	485	49663											
CD274	29126	broad.mit.edu	37	chr9	5457282	5457282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagctacagacagagggccCggctgttgaaggaccagctc	14	11	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:5457282C>T	uc003zje.2	+	3	308	c.256C>T	c.(256-258)CGG>TGG	p.R86W	C9orf46_uc003zjd.2_Intron|CD274_uc011lmb.1_Missense_Mutation_p.R86W|CD274_uc010mhn.2_RNA|CD274_uc003zjf.2_Intron	NM_014143	NP_054862	Q9NZQ7	PD1L1_HUMAN	CD274 molecule precursor	86	Extracellular (Potential).|Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity			lung(1)|central_nervous_system(1)	2	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		ACAGAGGGCCCGGCTGTTGAA	0.478			T	CIITA	PMBL|Hodgkin Lymphona|								T	5457282	C	T	5457282	3	4	73	1	0	0	0	0	1	0	0	0	2991	643	23	1	262	1	CD274	9	5457282	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	121952	5457282	135756149	486	49664											
TYRP1	7306	broad.mit.edu	37	chr9	12695537	12695537	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagaaatcttctggacttAagtaaagaagaaaagaacca	9	5	2	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:12695537A>G	uc003zkv.3	+	3	586	c.408A>G	c.(406-408)TTA>TTG	p.L136L		NM_000550	NP_000541	P17643	TYRP1_HUMAN	tyrosinase-related protein 1 precursor	136	Lumenal, melanosome (Potential).				melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			lung(1)	1		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCTGGACTTAAGTAAAGAAG	0.423									Oculocutaneous_Albinism				G	12695537	A	G	12695537	2	3	73	1	0	0	0	0	0	0	0	1	16813	359	13	3		3	TYRP1	9	12695537	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	7238255	12695537	128517894	487	49665											
FREM1	158326	broad.mit.edu	37	chr9	14769869	14769869	+	Splice_Site	DEL	A	A	-													tctcatggataaattcacctAaaaaaagaaataaatgaata							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:14769868_14769868TA>T	uc003zlm.3	-	28	5876	c.5060_splice	c.e28-1	p.G1687_splice	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_Splice_Site|FREM1_uc003zll.3_Splice_Site_p.G223_splice	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1687					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TAAATTCACCTAAAAAAAGAA	0.264													-	14769869	A	-	14769869	8	5	73	1	0	1	0	1	0	0	1	0	6044	377	13	0		0	FREM1	9	14769869	Splice_Site	DEL	A	TCGA-BR-8360-01A-11D-2340-08	2074332	14769869	126443562	488	49666											
BNC2	54796	broad.mit.edu	37	chr9	16435703	16435703	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cataacagattttggggtctGggctagaacataggtcacct	11	8	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:16435703G>T	uc003zml.2	-	6	2629	c.2489C>A	c.(2488-2490)CCA>CAA	p.P830Q	BNC2_uc011lmw.1_Missense_Mutation_p.P735Q|BNC2_uc003zmm.2_Missense_Mutation_p.P788Q|BNC2_uc003zmq.1_Missense_Mutation_p.P844Q|BNC2_uc003zmr.1_Missense_Mutation_p.P867Q|BNC2_uc003zmp.1_Missense_Mutation_p.P858Q|BNC2_uc010mij.1_Missense_Mutation_p.P752Q|BNC2_uc011lmv.1_Missense_Mutation_p.P656Q|BNC2_uc003zmo.1_Missense_Mutation_p.P752Q|BNC2_uc003zmj.2_Missense_Mutation_p.P595Q|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.P595Q|BNC2_uc003zmn.1_Missense_Mutation_p.P595Q	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	830					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		TTTGGGGTCTGGGCTAGAACA	0.488													T	16435703	G	T	16435703	3	4	73	1	0	0	0	0	1	0	0	0	1475	1348	47	5	818	5	BNC2	9	16435703	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1665834	16435703	124777728	489	49667											
ZBTB5	9925	broad.mit.edu	37	chr9	37441517	37441517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcttgtgaggtcacatcGctcacttcatcctgaggctc	9	13	4	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:37441517G>A	uc003zzx.2	-	2	1232	c.1032C>T	c.(1030-1032)AGC>AGT	p.S344S		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		AGGTCACATCGCTCACTTCAT	0.537													A	37441517	G	A	37441517	2	1	73	1	0	0	0	0	0	0	0	1	17548	1078	38	1		1	ZBTB5	9	37441517	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	21005814	37441517	103771914	490	49668											
APBA1	320	broad.mit.edu	37	chr9	72082835	72082835	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggagccaaggtaattggcGgcaaaaatgattccatcgat	12	7	0	1	rs141287424		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:72082835G>A	uc004ahh.2	-	5	1662	c.1386C>T	c.(1384-1386)GCC>GCT	p.A462A		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	462	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						GGTAATTGGCGGCAAAAATGA	0.552													A	72082835	G	A	72082835	2	1	73	1	0	0	0	0	0	0	0	1	756	1103	39	1		1	APBA1	9	72082835	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	34641318	72082835	69130596	491	49669											
TRPM3	80036	broad.mit.edu	37	chr9	73152148	73152148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctgacgaggtcctcgagCggattttgttggactcggcc	14	10	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:73152148C>T	uc004aid.2	-	25	4089	c.3845G>A	c.(3844-3846)CGC>CAC	p.R1282H	TRPM3_uc004ahu.2_Missense_Mutation_p.R1124H|TRPM3_uc004ahv.2_Missense_Mutation_p.R1084H|TRPM3_uc004ahw.2_Missense_Mutation_p.R1154H|TRPM3_uc004ahx.2_Missense_Mutation_p.R1141H|TRPM3_uc004ahy.2_Missense_Mutation_p.R1144H|TRPM3_uc004ahz.2_Missense_Mutation_p.R1131H|TRPM3_uc004aia.2_Missense_Mutation_p.R1129H|TRPM3_uc004aib.2_Missense_Mutation_p.R1119H|TRPM3_uc004aic.2_Missense_Mutation_p.R1282H	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1307	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						GGTCCTCGAGCGGATTTTGTT	0.612													T	73152148	C	T	73152148	3	4	73	1	0	0	0	0	1	0	0	0	16584	768	27	1	1282	1	TRPM3	9	73152148	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1069313	73152148	68061283	492	49670											
C9orf85	138241	broad.mit.edu	37	chr9	74526748	74526748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcgataaaagtgtgcagaCcaaggtaggaacctgcctgt	12	8	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:74526748C>T	uc004ain.2	+	1	326	c.98C>T	c.(97-99)ACC>ATC	p.T33I	C9orf85_uc004aio.2_RNA|C9orf85_uc010mou.2_RNA|C9orf85_uc010mov.2_RNA|FAM108B1_uc004ail.2_5'Flank|FAM108B1_uc004aim.1_5'Flank	NM_182505	NP_872311	Q96MD7	CI085_HUMAN	hypothetical protein LOC138241	33	Lys-rich.										0						AGTGTGCAGACCAAGGTAGGA	0.527													T	74526748	C	T	74526748	3	4	73	1	0	0	0	0	1	0	0	0	2501	507	18	4	100	4	C9orf85	9	74526748	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1374600	74526748	66686683	493	49671											
GDA	9615	broad.mit.edu	37	chr9	74810422	74810422	+	Frame_Shift_Del	DEL	T	T	-													tctttcttttaaagatagtgTttttagaagaagcatctcaa							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:74810421_74810421GT>G	uc004air.3	+	1	338	c.129_129GT>G	c.(127-129)gtgfs	p.V43fs	GDA_uc011lse.2_5'UTR|GDA_uc004aiq.3_Frame_Shift_Del_p.V43fs|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_5'UTR|GDA_uc004ais.3_Splice_Site_p.M1_splice|GDA_uc004ait.1_Splice_Site	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	43					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TAAAGATAGTGTTTTTAGAAG	0.313													-	74810422	T	-	74810422	7	5	73	1	0	1	0	1	0	0	0	0	6306	1725	60	0	136	0	GDA	9	74810422	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	283674	74810422	66403009	494	49672											
PRUNE2	158471	broad.mit.edu	37	chr9	79324975	79324975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggcaggttctggaacgGcaagctttcctcatttttgt	11	9	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:79324975G>A	uc010mpk.2	-	8	2339	c.2215C>T	c.(2215-2217)CCG>TCG	p.P739S		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	739					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						TTCTGGAACGGCAAGCTTTCC	0.458													A	79324975	G	A	79324975	3	1	73	1	0	0	0	0	1	0	0	0	12641	1203	42	2	7099	2	PRUNE2	9	79324975	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	4514553	79324975	61888456	495	49673											
PRUNE2	158471	broad.mit.edu	37	chr9	79469039	79469039	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtctagaaagtaagcaTatgtgaaggtagaaatgaga	11	4	1	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:79469039T>C	uc010mpk.2	-	2	246	c.122A>G	c.(121-123)TAT>TGT	p.Y41C	PRUNE2_uc004akn.2_Missense_Mutation_p.Y41C	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	41					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						AAAGTAAGCATATGTGAAGGT	0.343													C	79469039	T	C	79469039	3	2	73	1	0	0	0	0	1	0	0	0	12641	1406	49	3	9216	3	PRUNE2	9	79469039	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	144064	79469039	61744392	496	49674											
TLE1	7088	broad.mit.edu	37	chr9	84208132	84208132	+	Frame_Shift_Del	DEL	G	G	-													ccgggtccgatgagggcgtcGgggggaaaagggacaggctg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:84208131_84208131CG>C	uc004alz.3	-	14	1861	c.1420_1420CG>G	c.(1420-1422)gacfs	p.D474fs	TLE1_uc004aly.3_Frame_Shift_Del_p.D464fs|TLE1_uc011lsr.2_Frame_Shift_Del_p.D449fs|TLE1_uc004ama.1_Frame_Shift_Del_p.D463fs	NM_005077	NP_005068	Q04724	TLE1_HUMAN	Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA.	464					Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ATGAGGGCGTCGGGGGGAAAA	0.562													-	84208132	G	-	84208132	7	5	73	1	0	1	0	1	0	0	0	0	15935	1103	39	0	947	0	TLE1	9	84208132	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	4739093	84208132	57005299	497	49675											
ZCCHC6	79670	broad.mit.edu	37	chr9	88923493	88923494	+	Frame_Shift_Ins	INS	-	-	T													ctgcccaacagattctgtatINStttttccacattctgaccaa							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:88923492_88923493A>AT	uc004aou.3	-	21	3827_3828	c.3689_3690T>AT	c.(3688-3690)aatfs	p.N1230fs	ZCCHC6_uc010mqe.3_Frame_Shift_Ins_p.N130fs|ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Frame_Shift_Ins_p.N1230fs|ZCCHC6_uc004aot.3_Frame_Shift_Ins_p.N994fs|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	1230					RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CAGATTCTGTATTTTTTCCACA	0.356													T	88923494	-	T	88923493	7	5	73	1	0	1	1	0	0	0	0	0	17589	1493	52	0	822	0	ZCCHC6	9	88923493	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	4715361	88923493	52289938	498	49676											
SHC3	53358	broad.mit.edu	37	chr9	91656996	91656996	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcactgctgaccgcagccggCcaggcctgtggtgggatctg	16	13	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:91656996C>A	uc004aqg.2	-	10	1612	c.1305G>T	c.(1303-1305)TGG>TGT	p.W435C		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	435	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4						CCGCAGCCGGCCAGGCCTGTG	0.562													A	91656996	C	A	91656996	3	1	73	1	0	0	0	0	1	0	0	0	14272	740	26	5	491	5	SHC3	9	91656996	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2733503	91656996	49556435	499	49677											
SECISBP2	79048	broad.mit.edu	37	chr9	91964783	91964783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccagagggacacagagGcctcccaccttgctcccaat	9	16	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:91964783G>A	uc004aqj.1	+	13	1911	c.1831G>A	c.(1831-1833)GCC>ACC	p.A611T	SECISBP2_uc011ltk.1_Missense_Mutation_p.A610T|SECISBP2_uc004aqk.1_Missense_Mutation_p.A538T|SECISBP2_uc010mqo.1_Missense_Mutation_p.A316T|SECISBP2_uc011ltl.1_Missense_Mutation_p.A543T	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	611					translation	nucleus	mRNA 3'-UTR binding			ovary(2)|skin(1)	3						GGACACAGAGGCCTCCCACCT	0.592													A	91964783	G	A	91964783	3	1	73	1	0	0	0	0	1	0	0	0	14006	1203	42	2	1881	2	SECISBP2	9	91964783	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	307787	91964783	49248648	500	49678											
FGD3	89846	broad.mit.edu	37	chr9	95738953	95738953	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaacctgactctgagaacAccccccagaaggctgacaag	10	13	1	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:95738953A>G	uc004asw.2	+	3	1043	c.415A>G	c.(415-417)ACC>GCC	p.T139A	FGD3_uc004asx.2_Missense_Mutation_p.T139A|FGD3_uc004asz.2_Missense_Mutation_p.T139A	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	139					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						CTCTGAGAACACCCCCCAGAA	0.667													G	95738953	A	G	95738953	3	3	73	1	0	0	0	0	1	0	0	0	5834	159	6	3	417	3	FGD3	9	95738953	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	3774170	95738953	45474478	501	49679											
ZNF169	169841	broad.mit.edu	37	chr9	97063569	97063569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtctgcagggagtgtgggCgtggctttagccagaagtct	16	7	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:97063569C>T	uc004aum.1	+	5	1834	c.1729C>T	c.(1729-1731)CGT>TGT	p.R577C		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	577	C2H2-type 13; degenerate.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				GGAGTGTGGGCGTGGCTTTAG	0.557													T	97063569	C	T	97063569	3	4	73	1	0	0	0	0	1	0	0	0	17739	768	27	1	1743	1	ZNF169	9	97063569	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1324616	97063569	44149862	502	49680											
PTCH1	5727	broad.mit.edu	37	chr9	98209385	98209385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcccaggcccagggacagGcggcgggtgcacggcgacag	18	15	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:98209385G>A	uc004avk.3	-	23	4341	c.4153C>T	c.(4153-4155)CCT>TCT	p.P1385S	PTCH1_uc010mrn.2_Missense_Mutation_p.P177S|PTCH1_uc010mro.2_Missense_Mutation_p.P1234S|PTCH1_uc010mrp.2_Missense_Mutation_p.P1234S|PTCH1_uc010mrq.2_Missense_Mutation_p.P1234S|PTCH1_uc004avl.3_Missense_Mutation_p.P1234S|PTCH1_uc010mrr.2_Missense_Mutation_p.P1319S|PTCH1_uc004avm.3_Missense_Mutation_p.P1384S	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	1385	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCAGGGACAGGCGGCGGGTGC	0.692									Basal_Cell_Nevus_syndrome				A	98209385	G	A	98209385	3	1	73	1	0	0	0	0	1	0	0	0	12730	1203	42	2	194	2	PTCH1	9	98209385	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1145816	98209385	43004046	503	49681											
NANS	54187	broad.mit.edu	37	chr9	100823161	100823162	+	Frame_Shift_Ins	INS	-	-	G													tacacctcgaagcattcctgINSggggaagacgtacggggagc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:100823160_100823161T>TG	uc004ayc.3	+	1	361_362	c.229_230T>TG	c.(229-231)tggfs	p.W77fs		NM_018946	NP_061819	Q9NR45	SIAS_HUMAN	Homo sapiens N-acetylneuraminic acid synthase (NANS), mRNA.	77					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				GAAGCATTCCTGGGGGAAGACG	0.525													G	100823162	-	G	100823161	7	5	73	1	0	1	1	0	0	0	0	0	10155	1357	47	0	236	0	NANS	9	100823161	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	2613776	100823161	40390270	504	49682											
TRIM14	9830	broad.mit.edu	37	chr9	100857274	100857274	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagctccccgaggctcAtctgctgctgcatctcctgc	10	17	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:100857274A>G	uc004ayd.2	-	4	593	c.575T>C	c.(574-576)ATG>ACG	p.M192T	TRIM14_uc004ayf.1_Missense_Mutation_p.M99T|TRIM14_uc011luz.1_5'Flank|TRIM14_uc011lva.1_5'Flank|TRIM14_uc004ayg.1_Missense_Mutation_p.M192T|TRIM14_uc004ayh.1_Missense_Mutation_p.M192T|TRIM14_uc004ayi.1_Missense_Mutation_p.M192T|TRIM14_uc004ayj.1_Missense_Mutation_p.M99T	NM_033220	NP_150089	Q14142	TRI14_HUMAN	tripartite motif protein TRIM14 isoform alpha	192						cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.0559)				CCCGAGGCTCATCTGCTGCTG	0.622													G	100857274	A	G	100857274	3	3	73	1	0	0	0	0	1	0	0	0	16486	217	8	3	765	3	TRIM14	9	100857274	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	34113	100857274	40356157	505	49683											
COL15A1	1306	broad.mit.edu	37	chr9	101829281	101829281	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accgagcattcttatcttccCatttgcaagatctgtccacc	5	14	3	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:101829281C>A	uc004azb.1	+	40	3975	c.3769C>A	c.(3769-3771)CAT>AAT	p.H1257N		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1257	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				CTTATCTTCCCATTTGCAAGA	0.463													A	101829281	C	A	101829281	3	1	73	1	0	0	0	0	1	0	0	0	3672	594	21	5	3927	5	COL15A1	9	101829281	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	972007	101829281	39384150	506	49684											
TEX10	54881	broad.mit.edu	37	chr9	103090122	103090122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttagtaattctttatttgctCgtgctgcagcggtatgaatg	10	6	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:103090122C>T	uc004bas.2	-	8	1963	c.1748G>A	c.(1747-1749)CGA>CAA	p.R583Q	TEX10_uc011lvf.1_Missense_Mutation_p.R422Q|TEX10_uc011lvg.1_Missense_Mutation_p.R586Q	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10 isoform 1	583						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTTATTTGCTCGTGCTGCAGC	0.433													T	103090122	C	T	103090122	3	4	73	1	0	0	0	0	1	0	0	0	15769	884	31	1	1073	1	TEX10	9	103090122	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1260841	103090122	38123309	507	49685											
GRIN3A	116443	broad.mit.edu	37	chr9	104335629	104335629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctttcccattggtggtccGcaaggcagggagctctcttc	12	12	1	0	rs145862529		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:104335629G>A	uc004bbp.1	-	9	3776	c.3175C>T	c.(3175-3177)CGG>TGG	p.R1059W	GRIN3A_uc004bbo.1_Missense_Mutation_p.R134W	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	1059	Cytoplasmic (Potential).|Potential.				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TTGGTGGTCCGCAAGGCAGGG	0.527													A	104335629	G	A	104335629	3	1	73	1	0	0	0	0	1	0	0	0	6783	1086	38	1	176	1	GRIN3A	9	104335629	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1245507	104335629	36877802	508	49686											
GRIN3A	116443	broad.mit.edu	37	chr9	104499831	104499831	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacttccaaagacaggttgTagggtagcagcccttccacg	10	12	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:104499831T>C	uc004bbp.1	-	1	1032	c.431A>G	c.(430-432)TAC>TGC	p.Y144C	GRIN3A_uc004bbq.1_Missense_Mutation_p.Y144C	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	144	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGACAGGTTGTAGGGTAGCAG	0.637													C	104499831	T	C	104499831	3	2	73	1	0	0	0	0	1	0	0	0	6783	1638	57	3	2952	3	GRIN3A	9	104499831	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	164202	104499831	36713600	509	49687											
OR13C5	138799	broad.mit.edu	37	chr9	107360934	107360934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgtacatgaggaagatgGtcccacagaatgttatcacc	9	9	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:107360934G>A	uc011lvp.1	-	1	761	c.761C>T	c.(760-762)ACC>ATC	p.T254I		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C,	254	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4						GAGGAAGATGGTCCCACAGAA	0.433													A	107360934	G	A	107360934	3	1	73	1	0	0	0	0	1	0	0	0	10937	1261	44	4	197	4	OR13C5	9	107360934	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2861103	107360934	33852497	510	49688											
ZNF462	58499	broad.mit.edu	37	chr9	109689449	109689449	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcaattatcatttgaggtgGgtgctccaatgtctcccaaa	8	10	3	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:109689449G>T	uc004bcz.2	+	3	3545	c.3256G>T	c.(3256-3258)GGT>TGT	p.G1086C	ZNF462_uc010mto.2_Missense_Mutation_p.G934C|ZNF462_uc004bda.2_Missense_Mutation_p.G934C	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1086					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						ATTTGAGGTGGGTGCTCCAAT	0.517													T	109689449	G	T	109689449	3	4	73	1	0	0	0	0	1	0	0	0	17923	1232	43	5	3262	5	ZNF462	9	109689449	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2328515	109689449	31523982	511	49689											
SVEP1	79987	broad.mit.edu	37	chr9	113242031	113242031	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacccgtggtttgcaaaacGtttttctagaaaatgttgga	10	6	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:113242031G>T	uc010mtz.2	-	13	2708	c.2371C>A	c.(2371-2373)CGT>AGT	p.R791S	SVEP1_uc010mua.1_Missense_Mutation_p.R791S|SVEP1_uc004beu.2_Missense_Mutation_p.R791S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	791					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TTTGCAAAACGTTTTTCTAGA	0.338													T	113242031	G	T	113242031	3	4	73	1	0	0	0	0	1	0	0	0	15417	1145	40	5	8488	5	SVEP1	9	113242031	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	3552582	113242031	27971400	512	49690											
SLC46A2	57864	broad.mit.edu	37	chr9	115642093	115642093	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgggacttgtttataggcCacgatgctgtaagaattgac	11	6	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:115642093C>A	uc004bgk.2	-	4	1609	c.1377G>T	c.(1375-1377)GTG>GTT	p.V459V		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	459	Cytoplasmic (Potential).					integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)	1						GTTTATAGGCCACGATGCTGT	0.368													A	115642093	C	A	115642093	2	1	73	1	0	0	0	0	0	0	0	1	14645	581	21	5		5	SLC46A2	9	115642093	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2400062	115642093	25571338	513	49691											
TNC	3371	broad.mit.edu	37	chr9	117849317	117849317	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgcagactccatttacGcacttgccctggtcattgca	8	13	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:117849317G>A	uc004bjj.3	-	3	1055	c.693C>T	c.(691-693)TGC>TGT	p.C231C	TNC_uc010mvf.2_Silent_p.C231C	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	231	EGF-like 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CTCCATTTACGCACTTGCCCT	0.612													A	117849317	G	A	117849317	2	1	73	1	0	0	0	0	0	0	0	1	16267	1079	38	1		1	TNC	9	117849317	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2207224	117849317	23364114	514	49692											
DBC1	1620	broad.mit.edu	37	chr9	121971175	121971175	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggatgcttccgatggtcaGgaagtggttgctggggaggc	18	6	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:121971175G>T	uc004bkc.2	-	7	1423	c.967C>A	c.(967-969)CTG>ATG	p.L323M		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	323					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						CCGATGGTCAGGAAGTGGTTG	0.507													T	121971175	G	T	121971175	3	4	73	1	0	0	0	0	1	0	0	0	4247	991	35	5	1326	5	DBC1	9	121971175	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	4121858	121971175	19242256	515	49693											
CEP110	11064	broad.mit.edu	37	chr9	123860802	123860802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaagtttggaaggtcagCcagtaaccactcaggataga	12	7	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:123860802C>T	uc004bkx.1	+	5	791	c.760C>T	c.(760-762)CCA>TCA	p.P254S	CEP110_uc004bkw.2_Missense_Mutation_p.P254S	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	254	LRRCT.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						GGAAGGTCAGCCAGTAACCAC	0.378													T	123860802	C	T	123860802	3	4	73	1	0	0	0	0	1	0	0	0	3245	739	26	2	778	2	CEP110	9	123860802	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1889627	123860802	17352629	516	49694											
DAB2IP	153090	broad.mit.edu	37	chr9	124522230	124522232	+	In_Frame_Del	DEL	AAG	AAG	-													aggccaaggacctgccagccAagaagaagtacctgtgcgag							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:124522229_124522231CAAG>C	uc004bln.3	+	5	666_668	c.597_599CAAG>C	c.(595-600)gccaag>gcCg	p.K202del	DAB2IP_uc004blo.3_In_Frame_Del_p.K106del	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	230	C2.|PH.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						ACCTGCCAGCCAAGAAGAAGTAC	0.606													-	124522232	AAG	-	124522230	7	5	73	1	0	1	0	1	0	0	0	0	4219	131	5	0	620	0	DAB2IP	9	124522230	In_Frame_Del	DEL	AAG	TCGA-BR-8360-01A-11D-2340-08	661428	124522230	16691201	517	49695											
RABGAP1	23637	broad.mit.edu	37	chr9	125836582	125836582	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaatacattcctgacctgTacaaccacttcctggatata	6	11	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:125836582T>C	uc011lzh.1	+	17	2262	c.2128T>C	c.(2128-2130)TAC>CAC	p.Y710H	RABGAP1_uc004bnl.3_RNA|RABGAP1_uc011lzj.1_Missense_Mutation_p.Y49H	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	710	Rab-GAP TBC.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						TCCTGACCTGTACAACCACTT	0.428													C	125836582	T	C	125836582	3	2	73	1	0	0	0	0	1	0	0	0	12964	1638	57	3	2190	3	RABGAP1	9	125836582	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	1314352	125836582	15376849	518	49696											
DENND1A	57706	broad.mit.edu	37	chr9	126202750	126202750	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcttctggggtgggggcGcagccattctcggcaatgtc	15	11	3	0	rs141991289		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:126202750G>A	uc004bnz.1	-	19	1610	c.1377C>T	c.(1375-1377)TGC>TGT	p.C459C	DENND1A_uc011lzl.1_Silent_p.C234C|DENND1A_uc004bny.1_Silent_p.C198C|DENND1A_uc011lzm.1_Silent_p.C427C|DENND1A_uc004boa.1_Silent_p.C459C|DENND1A_uc004bob.1_Silent_p.C429C|DENND1A_uc004boc.2_Silent_p.C427C|DENND1A_uc010mwh.1_5'UTR	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	459						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2						GGGTGGGGGCGCAGCCATTCT	0.622													A	126202750	G	A	126202750	2	1	73	1	0	0	0	0	0	0	0	1	4426	1079	38	1		1	DENND1A	9	126202750	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	366168	126202750	15010681	519	49697											
NEK6	10783	broad.mit.edu	37	chr9	127101923	127101923	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagtccgacatctggtcCctgggctgtctgctgtacga	11	12	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:127101923C>T	uc004bog.2	+	8	845	c.696C>T	c.(694-696)TCC>TCT	p.S232S	NEK6_uc004bof.2_Silent_p.S250S|NEK6_uc004boh.2_Silent_p.S266S|NEK6_uc010mwj.2_Silent_p.S185S|NEK6_uc010mwk.2_Silent_p.S232S|NEK6_uc004boi.2_Silent_p.S232S	NM_014397	NP_055212	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6 isoform 2	232	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|kidney(1)	3						ACATCTGGTCCCTGGGCTGTC	0.602													T	127101923	C	T	127101923	2	4	73	1	0	0	0	0	0	0	0	1	10328	610	22	4		4	NEK6	9	127101923	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	899173	127101923	14111508	520	49698											
RABEPK	10244	broad.mit.edu	37	chr9	127982924	127982924	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctatatgtctttgggggCggagagagaggtgcccagcc	16	9	1	2	rs1045383		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:127982924C>T	uc004bpi.2	+	6	644	c.471C>T	c.(469-471)GGC>GGT	p.G157G	RABEPK_uc004bph.1_3'UTR|RABEPK_uc004bpj.2_Silent_p.G106G|RABEPK_uc004bpk.2_Silent_p.G157G|RABEPK_uc004bpl.1_Silent_p.G106G|RABEPK_uc004bpm.2_Silent_p.G157G	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	157	Kelch 3.				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1						TCTTTGGGGGCGGAGAGAGAG	0.597													T	127982924	C	T	127982924	2	4	73	1	0	0	0	0	0	0	0	1	12963	755	27	1		1	RABEPK	9	127982924	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	881001	127982924	13230507	521	49699											
RPL12	6136	broad.mit.edu	37	chr9	130211589	130211589	+	Frame_Shift_Del	DEL	G	G	-													gtttctttctgtctcttggtGgttccttgagggctttgatg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:130211588_130211588TG>T	uc004bqy.2	-	3	379	c.264_264CA>A	c.(262-264)ccafs	p.P88fs	RPL12_uc004bqz.2_Frame_Shift_Del_p.P55fs|SNORA65_uc004bra.1_5'Flank|LRSAM1_uc004brb.2_5'Flank|LRSAM1_uc010mxk.2_5'Flank|LRSAM1_uc004brc.2_5'Flank|LRSAM1_uc004brd.2_5'Flank	NM_000976	NP_000967	P30050	RL12_HUMAN	Homo sapiens ribosomal protein L12 (RPL12), mRNA.	88					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						TGTCTCTTGGTGGTTCCTTGA	0.433													-	130211589	G	-	130211589	7	5	73	1	0	1	0	1	0	0	0	0	13558	1348	47	0	250	0	RPL12	9	130211589	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	2228665	130211589	11001842	522	49700											
SH2D3C	10044	broad.mit.edu	37	chr9	130507273	130507274	+	Frame_Shift_Ins	INS	-	-	G													tgactccccatgggtctttgINSgggcacttccgggacacagc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:130507272_130507273T>TG	uc004bsc.3	-	6	1512_1513	c.1370_1371A>CA	c.(1369-1371)ccafs	p.P457fs	SH2D3C_uc010mxo.3_Frame_Shift_Ins_p.P297fs|SH2D3C_uc004bry.3_Frame_Shift_Ins_p.P299fs|SH2D3C_uc004brz.4_Frame_Shift_Ins_p.P103fs|SH2D3C_uc011mak.2_Frame_Shift_Ins_p.P103fs|SH2D3C_uc004bsb.3_Frame_Shift_Ins_p.P389fs|SH2D3C_uc004bsa.3_Frame_Shift_Ins_p.P300fs	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	457					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CATGGGTCTTTGGGGCACTTCC	0.673													G	130507274	-	G	130507273	7	5	73	1	0	1	1	0	0	0	0	0	14234	1348	47	0	1236	0	SH2D3C	9	130507273	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	295684	130507273	10706158	523	49701											
GOLGA2	2801	broad.mit.edu	37	chr9	131028142	131028142	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttctctgatacgaggatccCtatggtctgaatgtgaacct	9	9	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:131028142C>A	uc011maw.1	-	10	683	c.670G>T	c.(670-672)GGG>TGG	p.G224W	GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004bul.1_Missense_Mutation_p.G125W|GOLGA2_uc004bum.1_Missense_Mutation_p.G98W	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	224	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						ACGAGGATCCCTATGGTCTGA	0.512													A	131028142	C	A	131028142	3	1	73	1	0	0	0	0	1	0	0	0	6552	681	24	5	2406	5	GOLGA2	9	131028142	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	520869	131028142	10185289	524	49702											
SPTAN1	6709	broad.mit.edu	37	chr9	131395598	131395598	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgtggagttcacccgctcGcttttcgtgaactgagccac	10	13	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:131395598G>A	uc004bvl.3	+	56	7517	c.7404G>A	c.(7402-7404)TCG>TCA	p.S2468S	SPTAN1_uc004bvm.3_Silent_p.S2473S|SPTAN1_uc004bvn.3_Silent_p.S2448S|SPTAN1_uc004bvo.3_Silent_p.S235S|SPTAN1_uc004bvp.3_Silent_p.S211S	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2468					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TCACCCGCTCGCTTTTCGTGA	0.632													A	131395598	G	A	131395598	2	1	73	1	0	0	0	0	0	0	0	1	15116	1074	38	1		1	SPTAN1	9	131395598	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	367456	131395598	9817833	525	49703											
PKN3	29941	broad.mit.edu	37	chr9	131476529	131476529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcatggcggcctgggggCgcctcgtcatgaacctgctg	16	13	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:131476529C>T	uc004bvw.2	+	11	1759	c.1366C>T	c.(1366-1368)CGC>TGC	p.R456C	PKN3_uc010myh.2_Missense_Mutation_p.R456C|PKN3_uc011mbk.1_Missense_Mutation_p.R6C	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	protein kinase PKNbeta	456					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			stomach(2)|lung(2)	4						GGCCTGGGGGCGCCTCGTCAT	0.662													T	131476529	C	T	131476529	3	4	73	1	0	0	0	0	1	0	0	0	11981	768	27	1	1408	1	PKN3	9	131476529	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	80931	131476529	9736902	526	49704											
FAM73B	84895	broad.mit.edu	37	chr9	131825895	131825895	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagatggtgacaggcctgatGaccaaggctgagaaggtagc	15	8	0	5			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:131825895G>A	uc004bxa.2	+	11	1341	c.1155G>A	c.(1153-1155)ATG>ATA	p.M385I	FAM73B_uc004bwy.2_RNA|FAM73B_uc004bwz.2_Intron|FAM73B_uc011mbn.1_Missense_Mutation_p.M385I	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	hypothetical protein LOC84895	385						integral to membrane				skin(1)	1						CAGGCCTGATGACCAAGGCTG	0.582													A	131825895	G	A	131825895	3	1	73	1	0	0	0	0	1	0	0	0	5618	1290	45	4	1193	4	FAM73B	9	131825895	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	349366	131825895	9387536	527	49705											
RAPGEF1	2889	broad.mit.edu	37	chr9	134501510	134501510	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagagatgttgtcatactGcgagggatgccgctcgtagg	14	10	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:134501510G>A	uc004cbc.2	-	10	1580	c.1450C>T	c.(1450-1452)CAG>TAG	p.Q484*	RAPGEF1_uc004cbb.2_Nonsense_Mutation_p.Q502*|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Nonsense_Mutation_p.Q489*|RAPGEF1_uc004cbd.2_Nonsense_Mutation_p.Q489*	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	484					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TTGTCATACTGCGAGGGATGC	0.637													A	134501510	G	A	134501510	4	1	73	1	0	0	0	0	0	1	0	0	13043	1328	46	2	1843	2	RAPGEF1	9	134501510	Nonsense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2675615	134501510	6711921	528	49706											
TTF1	7270	broad.mit.edu	37	chr9	135277575	135277575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtttttatgagcagatgCtggtagttctgtaatttcac	9	6	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:135277575C>T	uc004cbl.2	-	2	686	c.634G>A	c.(634-636)GCA>ACA	p.A212T	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	212	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TGAGCAGATGCTGGTAGTTCT	0.512													T	135277575	C	T	135277575	3	4	73	1	0	0	0	0	1	0	0	0	16715	797	28	2	2123	2	TTF1	9	135277575	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	776065	135277575	5935856	529	49707											
SLC2A6	11182	broad.mit.edu	37	chr9	136340541	136340541	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctccggacgttgtccTggatctgctcgaactcccag	10	15	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:136340541T>G	uc004cee.2	-	5	850	c.755A>C	c.(754-756)CAG>CCG	p.Q252P	SLC2A6_uc004cef.2_Missense_Mutation_p.Q252P|SLC2A6_uc004ceg.2_Missense_Mutation_p.Q229P|SLC2A6_uc011mdj.1_3'UTR	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose	252	Cytoplasmic (Potential).					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GACGTTGTCCTGGATCTGCTC	0.672													G	136340541	T	G	136340541	3	3	73	1	0	0	0	0	1	0	0	0	14549	1580	55	5	792	5	SLC2A6	9	136340541	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	1062966	136340541	4872890	530	49708											
FCN2	2220	broad.mit.edu	37	chr9	137778363	137778363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcaaggtggccgacgaggCggagaagtacaatctggtcc	14	9	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:137778363C>T	uc004cfg.1	+	7	657	c.647C>T	c.(646-648)GCG>GTG	p.A216V	FCN2_uc004cfh.1_Missense_Mutation_p.A178V	NM_004108	NP_004099	Q15485	FCN2_HUMAN	ficolin 2 isoform a precursor	216	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			large_intestine(1)	1		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GCCGACGAGGCGGAGAAGTAC	0.572													T	137778363	C	T	137778363	3	4	73	1	0	0	0	0	1	0	0	0	5792	768	27	1	673	1	FCN2	9	137778363	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1437822	137778363	3435068	531	49709											
KCNT1	57582	broad.mit.edu	37	chr9	138651678	138651678	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtggtcatcatgatctgCgtggccctcgtggtgctccc	13	13	3	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:138651678C>T	uc011mdq.1	+	11	1082	c.1008C>T	c.(1006-1008)TGC>TGT	p.C336C	KCNT1_uc011mdr.1_Silent_p.C163C|KCNT1_uc010nbf.2_Silent_p.C291C|KCNT1_uc004cgo.1_Silent_p.C85C	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	336						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCATGATCTGCGTGGCCCTCG	0.642													T	138651678	C	T	138651678	2	4	73	1	0	0	0	0	0	0	0	1	8091	776	27	1		1	KCNT1	9	138651678	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	873315	138651678	2561753	532	49710											
SNAPC4	6621	broad.mit.edu	37	chr9	139272627	139272628	+	Missense_Mutation	DNP	GC	GC	CT													ggaccccggcgtcccccttgGctcagttgctgggatgacac							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:139272627_139272628GC>CT	uc004chh.2	-	21	3660_3661	c.3651_3652GC>AG	c.(3649-3654)GAGCCA>GAAGCA	p.P1218A		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	1218	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GTCCCCCTTGGCTCAGTTGCTG	0.698													CT	139272628	GC	CT	139272627	3	2	73	1	0	0	0	0	1	0	0	0	14837	1203	42	5	765	5	SNAPC4	9	139272627	Missense_Mutation	DNP	GC	TCGA-BR-8360-01A-11D-2340-08	620949	139272627	1940804	533	49711											
FAM69B	138311	broad.mit.edu	37	chr9	139617657	139617657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcgcctggcacgcggccGcccttccacccctgttgcgc	12	19	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:139617657G>A	uc004cik.2	+	5	821	c.727G>A	c.(727-729)GCC>ACC	p.A243T	FAM69B_uc004cil.2_Missense_Mutation_p.A156T|SNHG7_uc004cim.2_Intron	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	hypothetical protein LOC138311	243	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		GCACGCGGCCGCCCTTCCACC	0.706													A	139617657	G	A	139617657	3	1	73	1	0	0	0	0	1	0	0	0	5603	1087	38	1	745	1	FAM69B	9	139617657	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	345030	139617657	1595774	534	49712											
DIP2C	22982	broad.mit.edu	37	chr10	395273	395273	+	Splice_Site	DEL	G	G	-													cccaccctgcgcctgtacctGgggggtagaccaaggccacg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:395272_395272TG>T	uc001ifp.3	-	25	3199	c.3109_splice	c.e25+1	p.G1037_splice	DIP2C_uc009xhi.1_Splice_Site_p.G423_splice	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	1037						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGCCTGTACCTGGGGGGTAGA	0.667													-	395273	G	-	395273	8	5	73	1	0	1	0	1	0	0	1	0	4529	1348	47	0	1615	0	DIP2C	10	395273	Splice_Site	DEL	G	TCGA-BR-8360-01A-11D-2340-08		395273	135139474	535	49713											
DIP2C	22982	broad.mit.edu	37	chr10	468915	468915	+	Frame_Shift_Del	DEL	G	G	-													atgctgccctggctggaggtGggggtgccctgggagtcccc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:468914_468914TG>T	uc001ifp.3	-	4	544	c.454_454CA>A	c.(454-456)accfs	p.T152fs	DIP2C_uc009xhk.1_Frame_Shift_Del_p.P153fs	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	152						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGGCTGGAGGTGGGGGTGCCC	0.582													-	468915	G	-	468915	7	5	73	1	0	1	0	1	0	0	0	0	4529	1335	47	0	4349	0	DIP2C	10	468915	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	73642	468915	135065832	536	49714											
IL2RA	3559	broad.mit.edu	37	chr10	6063591	6063591	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgataataaaccatctgccCcaccacgaaatgataaattc	4	12	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:6063591C>A	uc001iiz.1	-	4	592	c.433G>T	c.(433-435)GGG>TGG	p.G145W	IL2RA_uc009xih.1_Intron|IL2RA_uc001ija.1_Intron	NM_000417	NP_000408	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha chain precursor	145	Sushi 2.|Extracellular (Potential).				cell proliferation	integral to membrane	interleukin-2 receptor activity			ovary(1)|skin(1)	2					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	ACCATCTGCCCCACCACGAAA	0.512													A	6063591	C	A	6063591	3	1	73	1	0	0	0	0	1	0	0	0	7686	623	22	5	405	5	IL2RA	10	6063591	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	5594676	6063591	129471156	537	49715											
PRKCQ	5588	broad.mit.edu	37	chr10	6472782	6472782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtccttaccactttcggcCggaacggtgggtcaatctcc	11	13	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:6472782C>T	uc001ijj.1	-	17	2030	c.1955G>A	c.(1954-1956)CGG>CAG	p.R652Q	PRKCQ_uc009xim.1_Missense_Mutation_p.R589Q|PRKCQ_uc001iji.1_Missense_Mutation_p.R685Q|PRKCQ_uc009xin.1_Missense_Mutation_p.R616Q|PRKCQ_uc010qax.1_Missense_Mutation_p.R527Q	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	652	AGC-kinase C-terminal.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						CACTTTCGGCCGGAACGGTGG	0.617													T	6472782	C	T	6472782	3	4	73	1	0	0	0	0	1	0	0	0	12515	652	23	1	173	1	PRKCQ	10	6472782	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	409191	6472782	129061965	538	49716											
SFMBT2	57713	broad.mit.edu	37	chr10	7269822	7269822	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaagcttcttacatttcGgaagcagaagggaggggctt	14	6	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:7269822G>A	uc009xio.1	-	10	1289	c.1198C>T	c.(1198-1200)CGA>TGA	p.R400*	SFMBT2_uc001ijn.1_Nonsense_Mutation_p.R400*|SFMBT2_uc010qay.1_Nonsense_Mutation_p.R400*	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	400	MBT 4.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						CTTACATTTCGGAAGCAGAAG	0.423													A	7269822	G	A	7269822	4	1	73	1	0	0	0	0	0	1	0	0	14158	1124	39	1	1534	1	SFMBT2	10	7269822	Nonsense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	797040	7269822	128264925	539	49717											
PHYH	5264	broad.mit.edu	37	chr10	13325835	13325835	+	Frame_Shift_Del	DEL	C	C	-													cgtggaacattttgttaactCccccctagaacaagaggcaa							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:13325834_13325834TC>T	uc001imf.3	-	6	772	c.684_684GA>A	c.(682-684)ggafs	p.G228fs	PHYH_uc001ime.3_Frame_Shift_Del_p.G128fs	NM_006214	NP_001032626	O14832	PAHX_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 1, mRNA.	228					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	L-ascorbic acid binding|electron carrier activity|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTTTGTTAACTCCCCCCTAGA	0.468													-	13325835	C	-	13325835	7	5	73	1	0	1	0	1	0	0	0	0	11864	855	30	0	345	0	PHYH	10	13325835	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	6056013	13325835	122208912	540	49718											
PTER	9317	broad.mit.edu	37	chr10	16528558	16528558	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaccatttcagattatcCgaatattgcaagaagcaggc	10	9	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:16528558C>T	uc001iog.1	+	4	847	c.640C>T	c.(640-642)CGA>TGA	p.R214*	PTER_uc001ioh.1_Nonsense_Mutation_p.R214*|PTER_uc001ioi.1_Nonsense_Mutation_p.R214*|PTER_uc009xjp.1_Nonsense_Mutation_p.R214*	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	phosphotriesterase related	214					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			ovary(2)	2						TCAGATTATCCGAATATTGCA	0.478													T	16528558	C	T	16528558	4	4	73	1	0	0	0	0	0	1	0	0	12739	644	23	1	646	1	PTER	10	16528558	Nonsense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3202723	16528558	119006189	541	49719											
CUBN	8029	broad.mit.edu	37	chr10	16955916	16955916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattctccactcgcagatcCggccatgaggatttgggttc	11	11	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:16955916C>T	uc001ioo.2	-	48	7479	c.7427G>A	c.(7426-7428)CGG>CAG	p.R2476Q		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2476	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCGCAGATCCGGCCATGAGG	0.532													T	16955916	C	T	16955916	3	4	73	1	0	0	0	0	1	0	0	0	4051	652	23	1	3524	1	CUBN	10	16955916	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	427358	16955916	118578831	542	49720											
KIAA1462	57608	broad.mit.edu	37	chr10	30315148	30315148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggcccaatctctgggcaCggtccccactgccaggagac	12	15	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:30315148C>T	uc001iux.2	-	2	3988	c.3929G>A	c.(3928-3930)CGT>CAT	p.R1310H	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.R1172H|KIAA1462_uc009xle.1_Missense_Mutation_p.R1310H	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	1310										ovary(4)	4						TCTCTGGGCACGGTCCCCACT	0.612													T	30315148	C	T	30315148	3	4	73	1	0	0	0	0	1	0	0	0	8234	536	19	1	158	1	KIAA1462	10	30315148	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	13359232	30315148	105219599	543	49721											
MAP3K8	1326	broad.mit.edu	37	chr10	30739267	30739267	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatcgcagagctgtatggCgcagtcctgtggggtgaaac	14	9	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:30739267C>T	uc001ivi.1	+	5	1281	c.585C>T	c.(583-585)GGC>GGT	p.G195G	MAP3K8_uc009xlf.1_Silent_p.G195G|MAP3K8_uc001ivj.1_Silent_p.G195G	NM_005204	NP_005195	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase	195	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(3)|central_nervous_system(1)	4		Prostate(175;0.151)				AGCTGTATGGCGCAGTCCTGT	0.488													T	30739267	C	T	30739267	2	4	73	1	0	0	0	0	0	0	0	1	9256	755	27	1		1	MAP3K8	10	30739267	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	424119	30739267	104795480	544	49722											
ZNF248	57209	broad.mit.edu	37	chr10	38121593	38121593	+	Frame_Shift_Del	DEL	A	A	-													atctgagatctcttatttgtAaaaaatgctgcctcatcatg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:38121593delA	uc001izd.1	-	6	1189	c.690delT	c.(688-690)TTTfs	p.F230fs	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Frame_Shift_Del_p.F230fs	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCTTATTTGTAAAAAATGCTG	0.363													-	38121593	A	-	38121593	7	5	73	1	0	1	0	1	0	0	0	0	17790	359	13	0	1053	0	ZNF248	10	38121593	Frame_Shift_Del	DEL	A	TCGA-BR-8360-01A-11D-2340-08	7382326	38121593	97413154	545	49723											
ZNF33B	7582	broad.mit.edu	37	chr10	43088761	43088761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtttctcccctgtgtgcGttctctgatgtattgtgagg	13	8	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:43088761G>A	uc001jaf.1	-	5	1752	c.1637C>T	c.(1636-1638)ACG>ATG	p.T546M	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.T434M|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	546	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CCCTGTGTGCGTTCTCTGATG	0.428													A	43088761	G	A	43088761	3	1	73	1	0	0	0	0	1	0	0	0	17852	1145	40	1	703	1	ZNF33B	10	43088761	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	4967168	43088761	92445986	546	49724											
PPYR1	5540	broad.mit.edu	37	chr10	47087582	47087582	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagcaggtcaatgtggtgCtggtggtgatggtggtggcc	19	5	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:47087582C>T	uc001jee.2	+	3	1218	c.799C>T	c.(799-801)CTG>TTG	p.L267L	ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.L267L	NM_005972	NP_005963	P50391	NPY4R_HUMAN	pancreatic polypeptide receptor 1	267	Helical; Name=6; (Potential).				blood circulation|digestion|feeding behavior	integral to plasma membrane				ovary(1)|skin(1)	2						CAATGTGGTGCTGGTGGTGAT	0.602													T	47087582	C	T	47087582	2	4	73	1	0	0	0	0	0	0	0	1	12416	796	28	2		2	PPYR1	10	47087582	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3998821	47087582	88447165	547	49725											
SLC18A3	6572	broad.mit.edu	37	chr10	50819360	50819360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcctgggctcagccttcGccgacacgtctggcatagcc	13	15	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:50819360G>A	uc001jhw.2	+	1	1014	c.574G>A	c.(574-576)GCC>ACC	p.A192T	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	192	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						CTCAGCCTTCGCCGACACGTC	0.657													A	50819360	G	A	50819360	3	1	73	1	0	0	0	0	1	0	0	0	14427	1087	38	1	576	1	SLC18A3	10	50819360	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	3731778	50819360	84715387	548	49726											
SLC18A3	6572	broad.mit.edu	37	chr10	50819836	50819836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccgtgcgcctggcggcGcgctacccacacctgcagtg	12	18	1	0	rs140704279		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:50819836G>A	uc001jhw.2	+	1	1490	c.1050G>A	c.(1048-1050)GCG>GCA	p.A350A	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	350	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						GCCTGGCGGCGCGCTACCCAC	0.697													A	50819836	G	A	50819836	2	1	73	1	0	0	0	0	0	0	0	1	14427	1074	38	1		1	SLC18A3	10	50819836	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	476	50819836	84714911	549	49727											
LRRTM3	347731	broad.mit.edu	37	chr10	68687864	68687864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaaaccccctttgccccCgacggtgggagccacagagc	12	16	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:68687864C>T	uc001jmz.1	+	2	1740	c.1190C>T	c.(1189-1191)CCG>CTG	p.P397L	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.P397L	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	397	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						CCTTTGCCCCCGACGGTGGGA	0.602													T	68687864	C	T	68687864	3	4	73	1	0	0	0	0	1	0	0	0	9041	652	23	1	1196	1	LRRTM3	10	68687864	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	17868028	68687864	66846883	550	49728											
ADAMTS14	140766	broad.mit.edu	37	chr10	72511878	72511878	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttcaccaaatacggctgccGgcgcagacgagaccaccaca	10	15	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:72511878G>T	uc001jrh.2	+	18	2624	c.2624G>T	c.(2623-2625)CGG>CTG	p.R875L	ADAMTS14_uc001jrg.2_Missense_Mutation_p.R878L	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	875	TSP type-1 2.|Poly-Arg.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						TACGGCTGCCGGCGCAGACGA	0.667													T	72511878	G	T	72511878	3	4	73	1	0	0	0	0	1	0	0	0	259	1116	39	5	2703	5	ADAMTS14	10	72511878	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	3824014	72511878	63022869	551	49729											
SGPL1	8879	broad.mit.edu	37	chr10	72636413	72636413	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcctaaagcgaagaccacaGgaatggtagggacacttgga	12	8	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:72636413G>T	uc001jrm.2	+	14	1783	c.1561G>T	c.(1561-1563)GGA>TGA	p.G521*	SGPL1_uc009xqk.2_RNA	NM_003901	NP_003892	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	521	Cytoplasmic (Potential).				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity				0					Pyridoxal Phosphate(DB00114)	GAAGACCACAGGAATGGTAGG	0.358													T	72636413	G	T	72636413	4	4	73	1	0	0	0	0	0	1	0	0	14218	1001	35	5	1611	5	SGPL1	10	72636413	Nonsense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	124535	72636413	62898334	552	49730											
UNC5B	219699	broad.mit.edu	37	chr10	73047450	73047450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggacctgcaccaaccccGctccactcaacggaggggcc	10	20	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:73047450G>A	uc001jro.2	+	6	1274	c.829G>A	c.(829-831)GCT>ACT	p.A277T	UNC5B_uc001jrp.2_Missense_Mutation_p.A277T	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	277	TSP type-1 1.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						CACCAACCCCGCTCCACTCAA	0.662													A	73047450	G	A	73047450	3	1	73	1	0	0	0	0	1	0	0	0	16989	1087	38	1	851	1	UNC5B	10	73047450	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	411037	73047450	62487297	553	49731											
CDH23	64072	broad.mit.edu	37	chr10	73537990	73537990	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggactacgagatcagccaCggccgctacaccctgatcgt	10	15	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:73537990C>T	uc001jrx.3	+	38	5489	c.5112C>T	c.(5110-5112)CAC>CAT	p.H1704H		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1704	Cadherin 16.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						AGATCAGCCACGGCCGCTACA	0.607													T	73537990	C	T	73537990	2	4	73	1	0	0	0	0	0	0	0	1	3108	535	19	1		1	CDH23	10	73537990	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	490540	73537990	61996757	554	49732											
PPP3CB	5532	broad.mit.edu	37	chr10	75239252	75239252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacttcttcagatgtcaagcGatgtgttggggggaaaggga	15	5	3	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:75239252G>A	uc001jue.2	-	2	244	c.109C>T	c.(109-111)CGC>TGC	p.R37C	PPP3CB_uc001juf.2_Missense_Mutation_p.R37C|PPP3CB_uc001jug.2_Missense_Mutation_p.R37C|PPP3CB_uc001jui.2_Missense_Mutation_p.R37C|PPP3CB_uc001juh.2_5'UTR	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	37	Catalytic.									skin(1)	1	Prostate(51;0.0119)					GATGTCAAGCGATGTGTTGGG	0.358													A	75239252	G	A	75239252	3	1	73	1	0	0	0	0	1	0	0	0	12398	1058	37	1	1520	1	PPP3CB	10	75239252	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1701262	75239252	60295495	555	49733											
USP54	159195	broad.mit.edu	37	chr10	75276308	75276308	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctggataggttacacaCgtatgggaatcatgagggga	13	7	2	1	rs138689241		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:75276308C>T	uc001juo.2	-	18	3893	c.3876G>A	c.(3874-3876)ACG>ACA	p.T1292T	USP54_uc010qkk.1_Silent_p.T474T|USP54_uc001juk.2_Silent_p.T380T|USP54_uc001jul.2_Silent_p.T380T|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1292					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					AGGTTACACACGTATGGGAAT	0.478													T	75276308	C	T	75276308	2	4	73	1	0	0	0	0	0	0	0	1	17082	523	19	1		1	USP54	10	75276308	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	37056	75276308	60258439	556	49734											
SYNPO2L	79933	broad.mit.edu	37	chr10	75407549	75407549	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcctgcaggatacccgTgcgggcagctggcacagaga	15	13	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:75407549T>C	uc001jut.3	-	4	2013	c.1861A>G	c.(1861-1863)ACG>GCG	p.T621A	SYNPO2L_uc001jus.3_Missense_Mutation_p.T397A	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	621	Pro-rich.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)					AGGATACCCGTGCGGGCAGCT	0.711													C	75407549	T	C	75407549	3	2	73	1	0	0	0	0	1	0	0	0	15455	1696	59	3	1076	3	SYNPO2L	10	75407549	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	131241	75407549	60127198	557	49735											
DLG5	9231	broad.mit.edu	37	chr10	79579711	79579711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccggctggaatgcccaggCgagtaaggtgcccactcctg	14	13	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:79579711C>T	uc001jzk.2	-	16	3538	c.3468G>A	c.(3466-3468)TCG>TCA	p.S1156S	DLG5_uc001jzi.2_5'UTR|DLG5_uc001jzj.2_Silent_p.S571S|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Silent_p.S760S	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1156					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AATGCCCAGGCGAGTAAGGTG	0.627													T	79579711	C	T	79579711	2	4	73	1	0	0	0	0	0	0	0	1	4558	755	27	1		1	DLG5	10	79579711	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	4172162	79579711	55955036	558	49736											
DYDC2	84332	broad.mit.edu	37	chr10	82122250	82122250	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaattgcctggcccaggcActggcagaggtggcgaaggt	17	9	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:82122250A>G	uc001kca.1	+	3	431	c.51A>G	c.(49-51)GCA>GCG	p.A17A	DYDC2_uc001kbz.1_RNA|DYDC2_uc001kcb.1_Silent_p.A17A	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	17							protein binding				0			Colorectal(32;0.229)			TGGCCCAGGCACTGGCAGAGG	0.463													G	82122250	A	G	82122250	2	3	73	1	0	0	0	0	0	0	0	1	4839	146	6	3		3	DYDC2	10	82122250	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	2542539	82122250	53412497	559	49737											
DYDC2	84332	broad.mit.edu	37	chr10	82126484	82126484	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccacgaagaagaccatatTcatgcaggaggacacaaacc	8	11	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:82126484T>G	uc001kca.1	+	5	691	c.311T>G	c.(310-312)TTC>TGC	p.F104C	DYDC2_uc001kbz.1_RNA|DYDC2_uc001kcb.1_Missense_Mutation_p.F104C	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	104							protein binding				0			Colorectal(32;0.229)			AAGACCATATTCATGCAGGAG	0.428													G	82126484	T	G	82126484	3	3	73	1	0	0	0	0	1	0	0	0	4839	1783	62	5	321	5	DYDC2	10	82126484	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	4234	82126484	53408263	560	49738											
FAM190B	54462	broad.mit.edu	37	chr10	86132141	86132141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagaaacatgaaaatgggCcaccacaggatatgtttgat	10	6	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:86132141C>T	uc001kdh.1	+	2	1527	c.1333C>T	c.(1333-1335)CCA>TCA	p.P445S	FAM190B_uc001kdg.1_Missense_Mutation_p.P445S|FAM190B_uc010qmd.1_Missense_Mutation_p.P445S	NM_018999	NP_061872	Q9H7U1	F190B_HUMAN	granule cell antiserum positive 14	445										ovary(3)|skin(1)	4						TGAAAATGGGCCACCACAGGA	0.353													T	86132141	C	T	86132141	3	4	73	1	0	0	0	0	1	0	0	0	5522	739	26	2	1335	2	FAM190B	10	86132141	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	4005657	86132141	49402606	561	49739											
GRID1	2894	broad.mit.edu	37	chr10	87406989	87406989	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctgaaggactggacacGcagttgtcagcccctccgtt	10	14	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:87406989G>A	uc001kdl.1	-	13	2264	c.2163C>T	c.(2161-2163)TGC>TGT	p.C721C	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.C292C|uc001kdm.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	721	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	GACTGGACACGCAGTTGTCAG	0.617										Multiple Myeloma(13;0.14)			A	87406989	G	A	87406989	2	1	73	1	0	0	0	0	0	0	0	1	6771	1079	38	1		1	GRID1	10	87406989	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1274848	87406989	48127758	562	49740											
HTR7	3363	broad.mit.edu	37	chr10	92508761	92508761	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atataaaagggttaatgagaGagtttgcatagcctagccac	10	6	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:92508761G>A	uc001kha.2	-	2	1373	c.1130C>T	c.(1129-1131)TCT>TTT	p.S377F	HTR7_uc001kgz.2_Missense_Mutation_p.S377F|HTR7_uc001khb.2_Missense_Mutation_p.S377F	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	377	Helical; Name=7; (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GTTAATGAGAGAGTTTGCATA	0.532													A	92508761	G	A	92508761	3	1	73	1	0	0	0	0	1	0	0	0	7452	942	33	4	325	4	HTR7	10	92508761	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	5101772	92508761	43025986	563	49741											
CYP26A1	1592	broad.mit.edu	37	chr10	94834167	94834167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgggcgcggacaatgtgCggcgcatcttgctcggagag	17	9	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:94834167C>T	uc001kil.2	+	2	337	c.292C>T	c.(292-294)CGG>TGG	p.R98W	CYP26A1_uc001kik.1_Missense_Mutation_p.R29W|CYP26A1_uc001kim.1_Silent_p.C2C	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	98					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.W98*(1)		upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				GGACAATGTGCGGCGCATCTT	0.617													T	94834167	C	T	94834167	3	4	73	1	0	0	0	0	1	0	0	0	4155	759	27	1	298	1	CYP26A1	10	94834167	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2325406	94834167	40700580	564	49742											
MYOF	26509	broad.mit.edu	37	chr10	95069859	95069859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgacccacttaaagcggCgccacacgatgaacttcatg	9	12	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:95069859C>T	uc001kin.2	-	53	6188	c.6065G>A	c.(6064-6066)CGC>CAC	p.R2022H	MYOF_uc001kio.2_Missense_Mutation_p.R2009H|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	2022	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						CTTAAAGCGGCGCCACACGAT	0.532													T	95069859	C	T	95069859	3	4	73	1	0	0	0	0	1	0	0	0	10089	768	27	1	128	1	MYOF	10	95069859	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	235692	95069859	40464888	565	49743											
FRA10AC1	118924	broad.mit.edu	37	chr10	95445079	95445080	+	Frame_Shift_Ins	INS	-	-	T													cccaactctttaagccttctINStttttatcacaatatttatt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:95445078_95445079C>CT	uc001kiz.2	-	8	747_748	c.549_550G>AG	c.(547-552)aaagaafs	p.K183fs	FRA10AC1_uc001kiv.2_Non-coding_Transcript	NM_145246	NP_660289	Q70Z53	F10C1_HUMAN	Homo sapiens fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 (FRA10AC1), mRNA.	183	Lys-rich.					nucleus	protein binding	p.E184K(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TTTAAGCCTTCTTTTTTATCAC	0.307													T	95445080	-	T	95445079	7	5	73	1	0	1	1	0	0	0	0	0	6041	1606	56	0	422	0	FRA10AC1	10	95445079	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	375220	95445079	40089668	566	49744											
PLCE1	51196	broad.mit.edu	37	chr10	95791574	95791574	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagtgtgatcattgtgaCaccttgaatgataaatactt	8	7	1	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:95791574C>T	uc001kjk.2	+	2	1405	c.771C>T	c.(769-771)GAC>GAT	p.D257D	PLCE1_uc010qnx.1_Silent_p.D257D	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	257					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.D257D(1)		ovary(2)|skin(1)	3		Colorectal(252;0.0458)				ATCATTGTGACACCTTGAATG	0.368													T	95791574	C	T	95791574	2	4	73	1	0	0	0	0	0	0	0	1	12034	477	17	4		4	PLCE1	10	95791574	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	346495	95791574	39743173	567	49745											
CC2D2B	387707	broad.mit.edu	37	chr10	97779061	97779061	+	Frame_Shift_Del	DEL	A	A	-													tttgacccgttttgtcccttAaaaagtgtagattgtttgtt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:97779061delA	uc001kll.2	+	7	823	c.624delA	c.(622-624)TTAfs	p.L208fs	uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_Intron|CC2D2B_uc010qop.1_Frame_Shift_Del_p.L208fs|uc009xvb.1_RNA	NM_001001732	NP_001001732	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B isoform	208										ovary(1)	1		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TTTGTCCCTTAAAAAGTGTAG	0.313													-	97779061	A	-	97779061	7	5	73	1	0	1	0	1	0	0	0	0	2729	359	13	0	646	0	CC2D2B	10	97779061	Frame_Shift_Del	DEL	A	TCGA-BR-8360-01A-11D-2340-08	1987487	97779061	37755686	568	49746											
DHDPSL	112817	broad.mit.edu	37	chr10	99371277	99371277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctttgcaggtgacccggcGctttgggatcccagggctga	15	11	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:99371277G>A	uc001kny.2	+	7	1204	c.845G>A	c.(844-846)CGC>CAC	p.R282H	DHDPSL_uc001knz.2_Missense_Mutation_p.R119H|PI4K2A_uc010qoy.1_Intron	NM_138413	NP_612422	Q86XE5	HOGA1_HUMAN	DHDPS-like protein isoform 1	282					glyoxylate catabolic process	mitochondrion	4-hydroxy-2-oxoglutarate aldolase activity				0						GTGACCCGGCGCTTTGGGATC	0.552													A	99371277	G	A	99371277	3	1	73	1	0	0	0	0	1	0	0	0	4480	1087	38	1	871	1	DHDPSL	10	99371277	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1592216	99371277	36163470	569	49747											
DNMBP	23268	broad.mit.edu	37	chr10	101645575	101645575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaactctgctgtgctcttCgtggaagatggcaataaggt	12	8	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:101645575C>T	uc001kqj.2	-	14	3759	c.3667G>A	c.(3667-3669)GAA>AAA	p.E1223K	DNMBP_uc010qpl.1_Missense_Mutation_p.E159K|DNMBP_uc001kqg.2_Missense_Mutation_p.E511K|DNMBP_uc001kqh.2_Missense_Mutation_p.E855K	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1223					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CTGTGCTCTTCGTGGAAGATG	0.398													T	101645575	C	T	101645575	3	4	73	1	0	0	0	0	1	0	0	0	4674	893	31	1	1082	1	DNMBP	10	101645575	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2274298	101645575	33889172	570	49748											
CWF19L1	55280	broad.mit.edu	37	chr10	101996719	101996719	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagagcagctgattgggacaGgaatgacctgggggttgggg	19	5	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:101996719G>T	uc001kqq.1	-	12	1349	c.1262C>A	c.(1261-1263)CCT>CAT	p.P421H	CWF19L1_uc001kqs.1_Missense_Mutation_p.P173H|CWF19L1_uc001kqr.1_Intron|CWF19L1_uc001kqt.1_Missense_Mutation_p.P125H|CWF19L1_uc010qpn.1_Missense_Mutation_p.P284H	NM_018294	NP_060764	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control	421							catalytic activity				0		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GATTGGGACAGGAATGACCTG	0.507													T	101996719	G	T	101996719	3	4	73	1	0	0	0	0	1	0	0	0	4071	1000	35	5	366	5	CWF19L1	10	101996719	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	351144	101996719	33538028	571	49749											
POLL	27343	broad.mit.edu	37	chr10	103342587	103342587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcactgtaatgcttcaggCcgatggcctgctgggttgtc	13	10	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:103342587C>T	uc001ktg.1	-	6	1893	c.1127G>A	c.(1126-1128)GGC>GAC	p.G376D	DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_Missense_Mutation_p.G49D|POLL_uc001kte.1_Missense_Mutation_p.G68D|POLL_uc001kth.1_Missense_Mutation_p.G101D|POLL_uc001kti.1_Missense_Mutation_p.G376D|POLL_uc001ktj.1_Missense_Mutation_p.G376D|POLL_uc001ktf.2_Missense_Mutation_p.G284D|POLL_uc001ktk.1_Missense_Mutation_p.G115D|POLL_uc010qqa.1_Missense_Mutation_p.G115D|POLL_uc010qqb.1_RNA|POLL_uc001ktm.2_Missense_Mutation_p.G376D|POLL_uc001ktl.2_Missense_Mutation_p.G288D|POLL_uc010qqc.1_Missense_Mutation_p.G68D	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	DNA-directed DNA polymerase lambda	376					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding				0		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		ATGCTTCAGGCCGATGGCCTG	0.567								DNA_polymerases_(catalytic_subunits)					T	103342587	C	T	103342587	3	4	73	1	0	0	0	0	1	0	0	0	12205	739	26	2	612	2	POLL	10	103342587	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1345868	103342587	32192160	572	49750											
C10orf76	79591	broad.mit.edu	37	chr10	103716445	103716445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggttggcagaaatgtgtcGccatatgtgataaacatatt	12	5	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:103716445G>A	uc009xwy.1	-	22	1716	c.1614C>T	c.(1612-1614)GGC>GGT	p.G538G	C10orf76_uc009xwx.1_RNA	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	hypothetical protein LOC79591	538	Helical; (Potential).					integral to membrane					0		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GAAATGTGTCGCCATATGTGA	0.383													A	103716445	G	A	103716445	2	1	73	1	0	0	0	0	0	0	0	1	1616	1074	38	1		1	C10orf76	10	103716445	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	373858	103716445	31818302	573	49751											
PITX3	5309	broad.mit.edu	37	chr10	103990802	103990802	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagctgcctttgcatagctcGgcctgctggctgcgctcgcg	13	14	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:103990802G>T	uc001kuu.1	-	4	532	c.378C>A	c.(376-378)GCC>GCA	p.A126A		NM_005029	NP_005020	O75364	PITX3_HUMAN	paired-like homeodomain 3	126					dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGCATAGCTCGGCCTGCTGGC	0.716													T	103990802	G	T	103990802	2	4	73	1	0	0	0	0	0	0	0	1	11956	1103	39	5		5	PITX3	10	103990802	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	274357	103990802	31543945	574	49752											
TMEM180	79847	broad.mit.edu	37	chr10	104230587	104230587	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctatgatggcttcctgacGctcgtggacctgcaccacca	9	15	1	2	rs139994075	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:104230587G>A	uc001kvt.2	+	5	636	c.417G>A	c.(415-417)ACG>ACA	p.T139T	TMEM180_uc001kvs.2_Intron|TMEM180_uc010qql.1_Intron|TMEM180_uc010qqm.1_Intron|TMEM180_uc001kvu.2_Silent_p.T139T	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	transmembrane protein 180	139	Helical; (Potential).					integral to membrane				ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCTTCCTGACGCTCGTGGACC	0.667													A	104230587	G	A	104230587	2	1	73	1	0	0	0	0	0	0	0	1	16096	1074	38	1		1	TMEM180	10	104230587	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	239785	104230587	31304160	575	49753											
ACTR1A	10121	broad.mit.edu	37	chr10	104248022	104248022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatagcggattgaaagcagcCctcggtgctcctgggaaaag	14	9	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:104248022C>T	uc001kvv.2	-	4	308	c.200G>A	c.(199-201)GGG>GAG	p.G67E	ACTR1A_uc010qqn.1_5'UTR|ACTR1A_uc010qqo.1_Missense_Mutation_p.G20E	NM_005736	NP_005727	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A,	67					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)	1		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TGAAAGCAGCCCTCGGTGCTC	0.522													T	104248022	C	T	104248022	3	4	73	1	0	0	0	0	1	0	0	0	209	623	22	4	962	4	ACTR1A	10	104248022	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	17435	104248022	31286725	576	49754											
PDCD11	22984	broad.mit.edu	37	chr10	105200319	105200319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggggcgggcgggagtgccGggagtctgggagtgagcagg	25	7	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:105200319G>A	uc001kwy.1	+	29	4508	c.4421G>A	c.(4420-4422)CGG>CAG	p.R1474Q		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1474					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CGGGAGTGCCGGGAGTCTGGG	0.567													A	105200319	G	A	105200319	3	1	73	1	0	0	0	0	1	0	0	0	11617	1116	39	1	4531	1	PDCD11	10	105200319	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	952297	105200319	30334428	577	49755											
CALHM2	51063	broad.mit.edu	37	chr10	105209370	105209370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgacaggggccacagccGcacgtcccaggatggagctt	15	12	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:105209370G>A	uc001kwz.2	-	2	715	c.329C>T	c.(328-330)GCG>GTG	p.A110V	CALHM2_uc001kxa.2_Missense_Mutation_p.A110V|CALHM2_uc001kxc.2_Missense_Mutation_p.A110V|CALHM2_uc001kxb.2_Missense_Mutation_p.A110V|CALHM2_uc001kxd.1_Missense_Mutation_p.A110V	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	110	Helical; (Potential).					integral to membrane				skin(1)	1						GGCCACAGCCGCACGTCCCAG	0.627													A	105209370	G	A	105209370	3	1	73	1	0	0	0	0	1	0	0	0	2583	1087	38	1	650	1	CALHM2	10	105209370	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	9051	105209370	30325377	578	49756											
ITPRIP	85450	broad.mit.edu	37	chr10	106075480	106075480	+	Frame_Shift_Del	DEL	C	C	-													cccaggcactcaggtgagggCccctcctggtggtcctgccg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:106075479_106075479GC>G	uc001kyf.3	-	2	784	c.331_331GC>C	c.(331-333)cccfs	p.P111fs	ITPRIP_uc001kye.3_Frame_Shift_Del_p.P111fs|ITPRIP_uc001kyg.3_Frame_Shift_Del_p.P111fs|ITPRIP_uc021pxv.1_Frame_Shift_Del_p.P111fs	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	111						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TCAGGTGAGGGCCCCTCCTGG	0.677													-	106075480	C	-	106075480	7	5	73	1	0	1	0	1	0	0	0	0	7923	726	26	0	1317	0	ITPRIP	10	106075480	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	866110	106075480	29459267	579	49757											
DUSP5	1847	broad.mit.edu	37	chr10	112258051	112258051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcggcgggcccggggcGgcgcggtgtcggcgcgctac	21	14	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:112258051G>A	uc001kzd.2	+	1	427	c.172G>A	c.(172-174)GGC>AGC	p.G58S		NM_004419	NP_004410	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	58	Nuclear localization signal (Potential).|Rhodanese.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		ggcccggggcggcgcggTGTC	0.647													A	112258051	G	A	112258051	3	1	73	1	0	0	0	0	1	0	0	0	4828	1116	39	1	174	1	DUSP5	10	112258051	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	6182571	112258051	23276696	580	49758											
ADRA2A	150	broad.mit.edu	37	chr10	112838242	112838242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacctgaagcgcacgccgcGccgcatcaaggccatcatca	9	17	3	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:112838242G>A	uc001kzo.2	+	1	1453	c.488G>A	c.(487-489)CGC>CAC	p.R163H		NM_000681	NP_000672	P08913	ADA2A_HUMAN	alpha-2A-adrenergic receptor	148	Cytoplasmic (By similarity).				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding				0		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	CGCACGCCGCGCCGCATCAAG	0.547													A	112838242	G	A	112838242	3	1	73	1	0	0	0	0	1	0	0	0	337	1087	38	1	490	1	ADRA2A	10	112838242	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	580191	112838242	22696505	581	49759											
C10orf96	374355	broad.mit.edu	37	chr10	118117366	118117366	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttttgaagatgaagagaAtgaatccatttgtactacca	8	5	0	5			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:118117366A>G	uc001lck.2	+	7	820	c.569A>G	c.(568-570)AAT>AGT	p.N190S		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	hypothetical protein LOC374355	190	Potential.									ovary(2)	2		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)		GATGAAGAGAATGAATCCATT	0.279													G	118117366	A	G	118117366	3	3	73	1	0	0	0	0	1	0	0	0	1627	101	4	3	591	3	C10orf96	10	118117366	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	5279124	118117366	17417381	582	49760											
SLC18A2	6571	broad.mit.edu	37	chr10	119014792	119014792	+	Frame_Shift_Del	DEL	C	C	-													ctttctctccctgcagtgggCccccccttcgggagtgtgct							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:119014792delC	uc001ldd.1	+	7	736	c.705delC	c.(703-705)GGCfs	p.G235fs	SLC18A2_uc009xyy.1_Frame_Shift_Del_p.G32fs	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine),	235	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity				0		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CTGCAGTGGGCCCCCCCTTCG	0.572													-	119014792	C	-	119014792	7	5	73	1	0	1	0	1	0	0	0	0	14426	726	26	0	727	0	SLC18A2	10	119014792	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	897426	119014792	16519955	583	49761											
EIF3A	8661	broad.mit.edu	37	chr10	120801712	120801712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaccctcgcctgggacccCggtcatcatccatgcctcgc	8	20	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:120801712C>T	uc001ldu.2	-	19	3466	c.3320G>A	c.(3319-3321)CGG>CAG	p.R1107Q	EIF3A_uc010qsu.1_Missense_Mutation_p.R1073Q|EIF3A_uc009xzg.1_Missense_Mutation_p.R146Q	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	1107	Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|19.				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)		CCTGGGACCCCGGTCATCATC	0.627													T	120801712	C	T	120801712	3	4	73	1	0	0	0	0	1	0	0	0	5012	652	23	1	844	1	EIF3A	10	120801712	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1786920	120801712	14733035	584	49762											
CHST15	51363	broad.mit.edu	37	chr10	125805494	125805494	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaaaaacgaggctacatcGcttcccctttttgaagcgca	7	13	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:125805494G>A	uc001lhl.2	-	1	748	c.235C>T	c.(235-237)CGA>TGA	p.R79*	CHST15_uc001lhm.2_Nonsense_Mutation_p.R79*|CHST15_uc001lhn.2_Nonsense_Mutation_p.R79*|CHST15_uc010que.1_Nonsense_Mutation_p.R79*|CHST15_uc001lho.2_Nonsense_Mutation_p.R79*	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	79	Cytoplasmic (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						AGGCTACATCGCTTCCCCTTT	0.473													A	125805494	G	A	125805494	4	1	73	1	0	0	0	0	0	1	0	0	3403	1095	38	1	1478	1	CHST15	10	125805494	Nonsense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	5003782	125805494	9729253	585	49763											
OAT	4942	broad.mit.edu	37	chr10	126097148	126097148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttgtatttctgaatgccCttcacggtatagccccactt	7	12	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:126097148C>T	uc001lhp.2	-	4	590	c.483G>A	c.(481-483)AAG>AAA	p.K161K	OAT_uc001lhq.2_RNA|OAT_uc001lhr.2_Silent_p.K23K	NM_000274	NP_000265	P04181	OAT_HUMAN	ornithine aminotransferase precursor	161					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding				0		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	TCTGAATGCCCTTCACGGTAT	0.328													T	126097148	C	T	126097148	2	4	73	1	0	0	0	0	0	0	0	1	10803	680	24	4		4	OAT	10	126097148	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	291654	126097148	9437599	586	49764											
GPR123	84435	broad.mit.edu	37	chr10	134941863	134941863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgggagcccagcctgggCgccttctacggcccagccgc	14	18	1	0	rs148877077		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:134941863C>T	uc001llx.3	+	7	967	c.531C>T	c.(529-531)GGC>GGT	p.G177G	GPR123_uc001llw.2_Silent_p.G896G	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	177	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCAGCCTGGGCGCCTTCTACG	0.692													T	134941863	C	T	134941863	2	4	73	1	0	0	0	0	0	0	0	1	6637	755	27	1		1	GPR123	10	134941863	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	8844715	134941863	592884	587	49765											
KNDC1	85442	broad.mit.edu	37	chr10	135020656	135020656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggtcatgtacgcggaaCgctggggcctggagccctgc	17	12	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:135020656C>T	uc001llz.1	+	20	3596	c.3595C>T	c.(3595-3597)CGC>TGC	p.R1199C	KNDC1_uc001lma.1_3'UTR	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1199					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GTACGCGGAACGCTGGGGCCT	0.677													T	135020656	C	T	135020656	3	4	73	1	0	0	0	0	1	0	0	0	8426	536	19	1	3673	1	KNDC1	10	135020656	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	78793	135020656	514091	588	49766											
TUBGCP2	10844	broad.mit.edu	37	chr10	135093332	135093332	+	Frame_Shift_Del	DEL	G	G	-													cccccgcaggacaggcacttGgggggtggccttctggctcc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:135093332delG	uc001lmg.1	-	18	3004	c.2647delC	c.(2647-2649)CAAfs	p.Q883fs	ADAM8_uc010quz.1_5'Flank|ADAM8_uc009ybi.2_5'Flank|ADAM8_uc010qva.1_5'Flank|ADAM8_uc009ybj.1_5'Flank|TUBGCP2_uc001lmf.1_Frame_Shift_Del_p.Q476fs|TUBGCP2_uc010qvc.1_Frame_Shift_Del_p.Q911fs|TUBGCP2_uc009ybk.1_Frame_Shift_Del_p.Q906fs|TUBGCP2_uc010qvd.1_Frame_Shift_Del_p.Q753fs|TUBGCP2_uc001lmh.1_RNA	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	883					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		ACAGGCACTTGGGGGGTGGCC	0.657													-	135093332	G	-	135093332	7	5	73	1	0	1	0	1	0	0	0	0	16763	1357	47	0	65	0	TUBGCP2	10	135093332	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	72676	135093332	441415	589	49767											
NLRP6	171389	broad.mit.edu	37	chr11	281325	281325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcgttgggacactcctgCgtggggacgcccagccgcac	16	15	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:281325C>T	uc010qvs.1	+	4	1591	c.1591C>T	c.(1591-1593)CGT>TGT	p.R531C	NLRP6_uc010qvt.1_Missense_Mutation_p.R531C	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	531						cytoplasm	ATP binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GACACTCCTGCGTGGGGACGC	0.692													T	281325	C	T	281325	3	4	73	1	0	0	0	0	1	0	0	0	10481	768	27	1	1605	1	NLRP6	11	281325	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08		281325	134725191	590	49768											
CEND1	51286	broad.mit.edu	37	chr11	788426	788426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggtgggggctgctggcgGctgctgcttctcggccgggg	21	11	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:788426G>A	uc001lrh.1	-	2	330	c.151C>T	c.(151-153)CCG>TCG	p.P51S		NM_016564	NP_057648	Q8N111	CEND_HUMAN	cell cycle exit and neuronal differentiation 1	51	Cytoplasmic (Potential).					integral to membrane					0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCTGGCGGCTGCTGCTTC	0.682													A	788426	G	A	788426	3	1	73	1	0	0	0	0	1	0	0	0	3225	1203	42	2	302	2	CEND1	11	788426	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	507101	788426	134218090	591	49769											
NAP1L4	4676	broad.mit.edu	37	chr11	2991167	2991167	+	Splice_Site	DEL	A	A	-													tttacttttcatgtctccctAaaaaaaagatgcaacatagg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:2991166_2991166TA>T	uc010qxm.2	-	8	687	c.403_splice	c.e8-1	p.G135_splice	NAP1L4_uc001lxc.3_Splice_Site_p.G135_splice|NAP1L4_uc010qxn.2_Splice_Site_p.G135_splice	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.	135					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		CATGTCTCCCTAAAAAAAAGA	0.418													-	2991167	A	-	2991167	8	5	73	1	0	1	0	1	0	0	1	0	10159	377	13	0		0	NAP1L4	11	2991167	Splice_Site	DEL	A	TCGA-BR-8360-01A-11D-2340-08	2202741	2991167	132015349	592	49770											
OR51D1	390038	broad.mit.edu	37	chr11	4661386	4661386	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttatccatgctctgtcagcCgtggagtcagctgtcctgct	10	13	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:4661386C>T	uc010qyk.1	+	1	366	c.366C>T	c.(364-366)GCC>GCT	p.A122A		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D,	122	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCTGTCAGCCGTGGAGTCAG	0.552													T	4661386	C	T	4661386	2	4	73	1	0	0	0	0	0	0	0	1	11093	639	23	1		1	OR51D1	11	4661386	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1670219	4661386	130345130	593	49771											
OR51Q1	390061	broad.mit.edu	37	chr11	5443929	5443929	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccttttcttactcaagCgactgcctttctgccactcc	4	18	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:5443929C>T	uc010qzd.1	+	1	499	c.499C>T	c.(499-501)CGA>TGA	p.R167*	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTACTCAAGCGACTGCCTTT	0.517													T	5443929	C	T	5443929	4	4	73	1	0	0	0	0	0	1	0	0	11104	760	27	1	501	1	OR51Q1	11	5443929	Nonsense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	782543	5443929	129562587	594	49772											
OR52N2	390077	broad.mit.edu	37	chr11	5842064	5842064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattcactctcctcaccaagCgcctgccctattgccggggg	9	17	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:5842064C>T	uc010qzp.1	+	1	499	c.499C>T	c.(499-501)CGC>TGC	p.R167C	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCACCAAGCGCCTGCCCTA	0.517													T	5842064	C	T	5842064	3	4	73	1	0	0	0	0	1	0	0	0	11128	768	27	1	501	1	OR52N2	11	5842064	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	398135	5842064	129164452	595	49773											
DNHD1	144132	broad.mit.edu	37	chr11	6520071	6520071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtggccctagaagaggCtgtgtggctggatggactta	16	7	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:6520071C>T	uc001mdw.3	+	3	1190	c.626C>T	c.(625-627)GCT>GTT	p.A209V	DNHD1_uc001mdp.2_Missense_Mutation_p.A209V	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	209					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTAGAAGAGGCTGTGTGGCTG	0.577													T	6520071	C	T	6520071	3	4	73	1	0	0	0	0	1	0	0	0	4668	797	28	2	628	2	DNHD1	11	6520071	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	678007	6520071	128486445	596	49774											
RRP8	23378	broad.mit.edu	37	chr11	6622758	6622758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcggcttaatgtatgagGgggtttaggggaagtggacc	17	5	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:6622758G>A	uc001med.2	-	3	617	c.538C>T	c.(538-540)CCT>TCT	p.P180S	ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase,	180					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity				0						AATGTATGAGGGGGTTTAGGG	0.542													A	6622758	G	A	6622758	3	1	73	1	0	0	0	0	1	0	0	0	13690	1232	43	4	852	4	RRP8	11	6622758	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	102687	6622758	128383758	597	49775											
SYT9	143425	broad.mit.edu	37	chr11	7324372	7324372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actctgctgggttccgtggcGagaacgaggcctgccctctg	14	13	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:7324372G>A	uc001mfe.2	+	2	485	c.248G>A	c.(247-249)CGA>CAA	p.R83Q	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	83	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GTTCCGTGGCGAGAACGAGGC	0.542													A	7324372	G	A	7324372	3	1	73	1	0	0	0	0	1	0	0	0	15478	1058	37	1	254	1	SYT9	11	7324372	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	701614	7324372	127682144	598	49776											
OR5P3	120066	broad.mit.edu	37	chr11	7847414	7847414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attacccattaaggtgacaaCataaattcctagaaacacaa	4	9	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:7847414C>T	uc010rbg.1	-	1	106	c.106G>A	c.(106-108)GTT>ATT	p.V36I		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P,	36	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGGTGACAACATAAATTCCT	0.368													T	7847414	C	T	7847414	3	4	73	1	0	0	0	0	1	0	0	0	11179	478	17	4	832	4	OR5P3	11	7847414	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	523042	7847414	127159102	599	49777											
ST5	6764	broad.mit.edu	37	chr11	8752691	8752691	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggctgaggtttcactaTcactgagcgggtagatggga	15	7	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:8752691T>A	uc001mgt.2	-	3	332	c.146A>T	c.(145-147)GAT>GTT	p.D49V	ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Missense_Mutation_p.D49V|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Missense_Mutation_p.D49V	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	49	Pro-rich.				positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGTTTCACTATCACTGAGCGG	0.562													A	8752691	T	A	8752691	3	1	73	1	0	0	0	0	1	0	0	0	15219	1435	50	5	3339	5	ST5	11	8752691	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	905277	8752691	126253825	600	49778											
WEE1	7465	broad.mit.edu	37	chr11	9603177	9603177	+	Frame_Shift_Del	DEL	T	T	-													ttttgcaagttggccgaggcTtgaggtatattcattcaatg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:9603176_9603176CT>C	uc001mhs.3	+	5	1492	c.1239_1239CT>C	c.(1237-1239)ggcfs	p.G413fs	WEE1_uc001mht.3_Frame_Shift_Del_p.G199fs	NM_003390	NP_001137448	P30291	WEE1_HUMAN	Homo sapiens WEE1 homolog (S. pombe) (WEE1), transcript variant 1, mRNA.	413	Protein kinase.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|blood coagulation|cell cycle checkpoint|cell division|mitosis	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	p.R412Q(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TTGGCCGAGGCTTGAGGTATA	0.373													-	9603177	T	-	9603177	7	5	73	1	0	1	0	1	0	0	0	0	17341	1606	56	0	1262	0	WEE1	11	9603177	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	850486	9603177	125403339	601	49779											
MICAL2	9645	broad.mit.edu	37	chr11	12246337	12246337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgggttggccctgtgtgCcatcatccaccgcttccggc	12	15	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:12246337C>T	uc001mjz.2	+	13	1946	c.1658C>T	c.(1657-1659)GCC>GTC	p.A553V	MICAL2_uc010rch.1_Missense_Mutation_p.A553V|MICAL2_uc001mka.2_Missense_Mutation_p.A553V|MICAL2_uc010rci.1_Missense_Mutation_p.A553V|MICAL2_uc001mkb.2_Missense_Mutation_p.A553V|MICAL2_uc001mkc.2_Missense_Mutation_p.A553V|MICAL2_uc001mkd.2_Missense_Mutation_p.A382V|MICAL2_uc010rcj.1_5'UTR	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	553	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		GCCCTGTGTGCCATCATCCAC	0.622													T	12246337	C	T	12246337	3	4	73	1	0	0	0	0	1	0	0	0	9570	739	26	2	1700	2	MICAL2	11	12246337	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2643160	12246337	122760179	602	49780											
ARNTL	406	broad.mit.edu	37	chr11	13398237	13398237	+	Frame_Shift_Del	DEL	C	C	-													cttcccacagctcacagcatCcccccacagcatggacagca							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:13398236_13398236TC>T	uc001mkr.3	+	15	1783	c.1375_1375TC>T	c.(1375-1377)tccfs	p.S459fs	ARNTL_uc001mko.3_Frame_Shift_Del_p.S415fs|ARNTL_uc001mkp.3_Frame_Shift_Del_p.S458fs|ARNTL_uc001mkq.3_Frame_Shift_Del_p.S458fs|ARNTL_uc001mks.3_Frame_Shift_Del_p.S416fs|ARNTL_uc001mkt.3_Frame_Shift_Del_p.S459fs|ARNTL_uc001mkw.3_Frame_Shift_Del_p.S416fs|ARNTL_uc001mkx.3_Frame_Shift_Del_p.S457fs|ARNTL_uc001mky.3_5'UTR	NM_001178	NP_001169	O00327	BMAL1_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like (ARNTL), transcript variant 1, mRNA.	459					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|Hsp90 protein binding|aryl hydrocarbon receptor binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		GCTCACAGCATCCCCCCACAG	0.582													-	13398237	C	-	13398237	7	5	73	1	0	1	0	1	0	0	0	0	967	855	30	0	1434	0	ARNTL	11	13398237	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	1151900	13398237	121608279	603	49781											
NAV2	89797	broad.mit.edu	37	chr11	20099098	20099098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgtgtcttcccctccagGctcaccttgtggcagccttt	10	14	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:20099098G>A	uc010rdm.1	+	25	5513	c.5152G>A	c.(5152-5154)GCT>ACT	p.A1718T	NAV2_uc001mpp.2_Missense_Mutation_p.A1598T|NAV2_uc001mpr.3_Missense_Mutation_p.A1662T|NAV2_uc001mpt.2_Missense_Mutation_p.A711T|NAV2_uc009yhx.2_Missense_Mutation_p.A726T|NAV2_uc009yhy.1_Missense_Mutation_p.A624T|NAV2_uc009yhz.2_Missense_Mutation_p.A307T|NAV2_uc001mpu.2_Missense_Mutation_p.A100T	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	1718	Potential.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						TCCCCTCCAGGCTCACCTTGT	0.468													A	20099098	G	A	20099098	3	1	73	1	0	0	0	0	1	0	0	0	10184	1217	42	2	5183	2	NAV2	11	20099098	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	6700861	20099098	114907418	604	49782											
DBX1	120237	broad.mit.edu	37	chr11	20177883	20177883	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcggccctggcagccgCgggtcccgcaggtgctgggg	20	14	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:20177883C>A	uc001mpw.1	-	4	1026	c.1026G>T	c.(1024-1026)CCG>CCT	p.P342P		NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	303					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTGGCAGCCGCGGGTCCCGCA	0.716													A	20177883	C	A	20177883	2	1	73	1	0	0	0	0	0	0	0	1	4259	755	27	5		5	DBX1	11	20177883	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	78785	20177883	114828633	605	49783											
C11orf46	120534	broad.mit.edu	37	chr11	30358285	30358285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgtgaccgcaagtggctGtatgagcaaattgaaattga	12	7	0	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:30358285G>A	uc001mso.1	+	4	890	c.726G>A	c.(724-726)CTG>CTA	p.L242L	C11orf46_uc001msp.2_5'Flank	NM_152316	NP_689529	Q8N8R7	CK046_HUMAN	hypothetical protein LOC120534	242											0						GCAAGTGGCTGTATGAGCAAA	0.433													A	30358285	G	A	30358285	2	1	73	1	0	0	0	0	0	0	0	1	1643	1364	48	4		4	C11orf46	11	30358285	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	10180402	30358285	104648231	606	49784											
TRAF6	7189	broad.mit.edu	37	chr11	36520186	36520186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactggacatttgtgacctgCatccctaacagaaacaaaat	6	10	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:36520186C>T	uc001mwr.1	-	4	641	c.301G>A	c.(301-303)GCA>ACA	p.A101T	TRAF6_uc001mws.1_Missense_Mutation_p.A101T	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6	101	Interaction with TAX1BP1.|RING-type.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)				TTGTGACCTGCATCCCTAACA	0.323													T	36520186	C	T	36520186	3	4	73	1	0	0	0	0	1	0	0	0	16442	710	25	2	1287	2	TRAF6	11	36520186	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	6161901	36520186	98486330	607	49785											
PTPMT1	114971	broad.mit.edu	37	chr11	47593071	47593071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagagccatcgccaagatcCggtcatacatccacatcagg	8	13	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:47593071C>T	uc001nfs.3	+	4	689	c.496C>T	c.(496-498)CGG>TGG	p.R166W	PTPMT1_uc001nfv.3_Missense_Mutation_p.P138L|PTPMT1_uc009ylt.2_Missense_Mutation_p.R102W|PTPMT1_uc001nfu.3_3'UTR|NDUFS3_uc001nft.3_5'UTR	NM_175732	NP_783859	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	166	Tyrosine-protein phosphatase.				inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(1)	1						CGCCAAGATCCGGTCATACAT	0.493													T	47593071	C	T	47593071	3	4	73	1	0	0	0	0	1	0	0	0	12778	652	23	1	615	1	PTPMT1	11	47593071	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	11072885	47593071	87413445	608	49786											
OR4C13	283092	broad.mit.edu	37	chr11	49974661	49974661	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaaagacccacagcttagaGgcaaggcacgaagccctctc	9	13	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:49974661G>T	uc010rhz.1	+	1	687	c.687G>T	c.(685-687)GAG>GAT	p.E229D		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						ACAGCTTAGAGGCAAGGCACG	0.478													T	49974661	G	T	49974661	3	4	73	1	0	0	0	0	1	0	0	0	11047	991	35	5	689	5	OR4C13	11	49974661	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2381590	49974661	85031855	609	49787											
OR5F1	338674	broad.mit.edu	37	chr11	55762042	55762042	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggataatctgtagctccagCgtgtctgctaatcccaatag	9	10	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:55762042C>T	uc010riv.1	-	1	60	c.60G>A	c.(58-60)ACG>ACA	p.T20T		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					GTAGCTCCAGCGTGTCTGCTA	0.363													T	55762042	C	T	55762042	2	4	73	1	0	0	0	0	0	0	0	1	11158	755	27	1		1	OR5F1	11	55762042	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	5787381	55762042	79244474	610	49788											
OR5AP2	338675	broad.mit.edu	37	chr11	56409703	56409703	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggcatctacaaaagagagGctactgagaaagaaatacat	10	6	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:56409703G>T	uc001njb.1	-	1	213	c.213C>A	c.(211-213)AGC>AGA	p.S71R		NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP,	71	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						CAAAAGAGAGGCTACTGAGAA	0.433													T	56409703	G	T	56409703	3	4	73	1	0	0	0	0	1	0	0	0	11144	1194	42	5	741	5	OR5AP2	11	56409703	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	647661	56409703	78596813	611	49789											
P2RX3	5024	broad.mit.edu	37	chr11	57118321	57118321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaaatactccttcacccGgctcgacagcgtttctgaga	7	16	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:57118321G>A	uc001nju.2	+	8	867	c.791G>A	c.(790-792)CGG>CAG	p.R264Q		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	264	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						TCCTTCACCCGGCTCGACAGC	0.572													A	57118321	G	A	57118321	3	1	73	1	0	0	0	0	1	0	0	0	11341	1116	39	1	821	1	P2RX3	11	57118321	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	708618	57118321	77888195	612	49790											
SMTNL1	219537	broad.mit.edu	37	chr11	57314092	57314092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggatcccgcaaagcgccGgcacaacttcaccctggcct	10	17	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:57314092G>A	uc009ymh.1	+	7	1361	c.1361G>A	c.(1360-1362)CGG>CAG	p.R454Q		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	436										ovary(1)	1						GCAAAGCGCCGGCACAACTTC	0.592													A	57314092	G	A	57314092	3	1	73	1	0	0	0	0	1	0	0	0	14815	1116	39	1	1387	1	SMTNL1	11	57314092	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	195771	57314092	77692424	613	49791											
GLYATL1	92292	broad.mit.edu	37	chr11	58714625	58714625	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccttggccaggagcatccCtgagtccctgaaggtcaggg	13	12	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:58714625C>A	uc001nnf.2	+	4	441	c.65C>A	c.(64-66)CCT>CAT	p.P22H	uc001nng.1_Intron|GLYATL1_uc001nnh.1_Intron|GLYATL1_uc001nni.1_Missense_Mutation_p.P22H|GLYATL1_uc001nnj.1_Missense_Mutation_p.P22H			Q969I3	GLYL1_HUMAN	SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	22						mitochondrion	glycine N-acyltransferase activity			ovary(1)	1					Glycine(DB00145)	AGGAGCATCCCTGAGTCCCTG	0.502													A	58714625	C	A	58714625	3	1	73	1	0	0	0	0	1	0	0	0	6480	696	24	5		5	GLYATL1	11	58714625	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1400533	58714625	76291891	614	49792											
PRPF19	27339	broad.mit.edu	37	chr11	60666067	60666067	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcctgttccaaagatgagTccgtcagggtggaactgtgc	13	9	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:60666067T>C	uc001nqf.2	-	13	1293	c.1086A>G	c.(1084-1086)GGA>GGG	p.G362G		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	PRP19/PSO4 pre-mRNA processing factor 19	362	WD 4.				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			ovary(1)	1						CAAAGATGAGTCCGTCAGGGT	0.557													C	60666067	T	C	60666067	2	2	73	1	0	0	0	0	0	0	0	1	12564	1654	58	3		3	PRPF19	11	60666067	Silent	SNP	T	TCGA-BR-8360-01A-11D-2340-08	1951442	60666067	74340449	615	49793											
DAK	26007	broad.mit.edu	37	chr11	61110303	61110303	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcatagccgacgctacCgtccgctccctgggtgagcc	12	16	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:61110303C>T	uc001nre.2	+	10	1109	c.852C>T	c.(850-852)ACC>ACT	p.T284T	DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Silent_p.T214T	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	284	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0						CCGACGCTACCGTCCGCTCCC	0.478													T	61110303	C	T	61110303	2	4	73	1	0	0	0	0	0	0	0	1	4228	639	23	1		1	DAK	11	61110303	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	444236	61110303	73896213	616	49794											
SYT7	9066	broad.mit.edu	37	chr11	61290643	61290643	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccgtggggatatcgaaggcGaaggactcattgaagatggg	16	6	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:61290643G>A	uc001nrv.2	-	8	1017	c.1011C>T	c.(1009-1011)TTC>TTT	p.F337F	SYT7_uc009ynr.2_Silent_p.F412F	NM_004200	NP_004191	O43581	SYT7_HUMAN	synaptotagmin VII	337	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4						TATCGAAGGCGAAGGACTCAT	0.527													A	61290643	G	A	61290643	2	1	73	1	0	0	0	0	0	0	0	1	15476	1049	37	1		1	SYT7	11	61290643	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	180340	61290643	73715873	617	49795											
FADS2	9415	broad.mit.edu	37	chr11	61624930	61624930	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtctctctcctgcagttggGccgccgctgctcatccccat	9	17	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:61624930G>C	uc001nsl.1	+	7	960	c.810G>C	c.(808-810)GGG>GGC	p.G270G	FADS2_uc001nsj.2_Silent_p.G248G|FADS2_uc010rlo.1_Silent_p.G239G|FADS2_uc001nsk.2_Silent_p.G270G	NM_004265	NP_004256	O95864	FADS2_HUMAN	fatty acid desaturase 2	270	Helical; (Potential).				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			ovary(1)|pancreas(1)	2					Alpha-Linolenic Acid(DB00132)	CTGCAGTTGGGCCGCCGCTGC	0.592													C	61624930	G	C	61624930	2	2	73	1	0	0	0	0	0	0	0	1	5366	1190	42	5		5	FADS2	11	61624930	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	334287	61624930	73381586	618	49796											
TAF6L	10629	broad.mit.edu	37	chr11	62554088	62554088	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcctggacgacctgccaTgggacagccttctctttcaa	11	14	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:62554088T>C	uc001nvc.2	+	11	1290	c.1189T>C	c.(1189-1191)TGG>CGG	p.W397R	TMEM179B_uc001nvd.3_5'Flank	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II	397					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			ovary(3)	3						CGACCTGCCATGGGACAGCCT	0.706											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	62554088	T	C	62554088	3	2	73	1	0	0	0	0	1	0	0	0	15528	1464	51	3	1227	3	TAF6L	11	62554088	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	929158	62554088	72452428	619	49797											
CHRM1	1128	broad.mit.edu	37	chr11	62677507	62677509	+	In_Frame_Del	DEL	AGA	AGA	-													cttcttctccttgaccagcgAgaaggtcttccgcttggcca							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:62677506_62677508GAGA>G	uc021qko.1	-	0	1065_1067	c.1065_1067TCTC>C	c.(1063-1068)ttctcg>ttCg	p.S356del	CHRM1_uc001nwi.3_In_Frame_Del_p.S356del	NM_000738	NP_000729	P11229	ACM1_HUMAN	Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA.	356					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	CTTGACCAGCGAGAAGGTCTTCC	0.596													-	62677509	AGA	-	62677507	7	5	73	1	0	1	0	1	0	0	0	0	3376	304	11	0	320	0	CHRM1	11	62677507	In_Frame_Del	DEL	AGA	TCGA-BR-8360-01A-11D-2340-08	123419	62677507	72329009	620	49798											
RPS6KA4	8986	broad.mit.edu	37	chr11	64129351	64129351	+	Frame_Shift_Del	DEL	C	C	-													ctgaagtgctcccctcccttCccccctcggatcgggcccgt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:64129350_64129350TC>T	uc001oae.3	+	7	865	c.782_782TC>T	c.(781-783)ttcfs	p.F261fs	RPS6KA4_uc001oad.3_Frame_Shift_Del_p.F261fs|RPS6KA4_uc010rnl.2_Frame_Shift_Del_p.F198fs|RPS6KA4_uc001oaf.3_Frame_Shift_Del_p.F261fs|RPS6KA4_uc009ypp.3_Frame_Shift_Del_p.F261fs	NM_003942	NP_003933	O75676	KS6A4_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA.	261	Protein kinase 1.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						TCCCCTCCCTTCCCCCCTCGG	0.692													-	64129351	C	-	64129351	7	5	73	1	0	1	0	1	0	0	0	0	13653	854	30	0	813	0	RPS6KA4	11	64129351	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	1451844	64129351	70877165	621	49799											
SLC22A12	116085	broad.mit.edu	37	chr11	64359362	64359362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaccagctggagcgaggccGacacggagccgtgtgtggat	16	12	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:64359362G>A	uc001oam.1	+	1	1081	c.334G>A	c.(334-336)GAC>AAC	p.D112N	SLC22A12_uc009ypr.1_Missense_Mutation_p.D112N|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.D112N|SLC22A12_uc001oan.1_Missense_Mutation_p.D112N|SLC22A12_uc009ypt.2_5'Flank	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	112					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1						GAGCGAGGCCGACACGGAGCC	0.677													A	64359362	G	A	64359362	3	1	73	1	0	0	0	0	1	0	0	0	14443	1058	37	1	336	1	SLC22A12	11	64359362	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	230011	64359362	70647154	622	49800											
CDC42EP2	10435	broad.mit.edu	37	chr11	65088566	65088566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaagttccacctcctgcCggggaccatggtggaggggc	17	12	0	0	rs139397769		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:65088566C>T	uc001odl.2	+	2	647	c.197C>T	c.(196-198)CCG>CTG	p.P66L		NM_006779	NP_006770	O14613	BORG1_HUMAN	Cdc42 effector protein 2	66					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity				0						CACCTCCTGCCGGGGACCATG	0.652													T	65088566	C	T	65088566	3	4	73	1	0	0	0	0	1	0	0	0	3076	652	23	1	199	1	CDC42EP2	11	65088566	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	729204	65088566	69917950	623	49801											
EHBP1L1	254102	broad.mit.edu	37	chr11	65348778	65348778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccaggggtcagaacgagCtaatgaagcggggggccagg	19	8	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:65348778C>T	uc001oeo.3	+	8	1065	c.800C>T	c.(799-801)GCT>GTT	p.A267V	EHBP1L1_uc001oep.1_5'Flank	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	267										central_nervous_system(1)	1						TCAGAACGAGCTAATGAAGCG	0.637													T	65348778	C	T	65348778	3	4	73	1	0	0	0	0	1	0	0	0	4976	797	28	2	830	2	EHBP1L1	11	65348778	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	260212	65348778	69657738	624	49802											
MAP3K11	4296	broad.mit.edu	37	chr11	65375538	65375538	+	Frame_Shift_Del	DEL	A	A	-													agttcccacagcagcaccccAaaactgtgggcgagacaaca							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:65375537_65375537CA>C	uc001oew.3	-	2	1418	c.925_925TG>G	c.(925-927)gggfs	p.G309fs	MAP3K11_uc001oev.3_5'Flank|MAP3K11_uc010rol.2_Frame_Shift_Del_p.G52fs|MAP3K11_uc001oex.1_5'UTR	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	309	Protein kinase.				G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						AGCAGCACCCCAAAACTGTGG	0.567													-	65375538	A	-	65375538	7	5	73	1	0	1	0	1	0	0	0	0	9245	127	5	0	1651	0	MAP3K11	11	65375538	Frame_Shift_Del	DEL	A	TCGA-BR-8360-01A-11D-2340-08	26760	65375538	69630978	625	49803											
SNX32	254122	broad.mit.edu	37	chr11	65617684	65617684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaagctacagaaattgggcGagggggacagctctgtcact	13	8	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:65617684G>A	uc001ofr.2	+	4	443	c.316G>A	c.(316-318)GAG>AAG	p.E106K	SNX32_uc009yqt.2_3'UTR|SNX32_uc010rop.1_Silent_p.A145A	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	sorting nexin 6B	106	PX.				cell communication|protein transport		phosphatidylinositol binding				0				READ - Rectum adenocarcinoma(159;0.171)		GAAATTGGGCGAGGGGGACAG	0.602													A	65617684	G	A	65617684	3	1	73	1	0	0	0	0	1	0	0	0	14902	1059	37	1	330	1	SNX32	11	65617684	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	242146	65617684	69388832	626	49804											
SF3B2	10992	broad.mit.edu	37	chr11	65836146	65836146	+	Splice_Site	DEL	A	A	-													tctctttctccctatacagcAaaaaaaacggaaagctcagc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:65836145_65836145CA>C	uc001ogy.1	+	22	2657	c.2617_splice	c.e22-1	p.Q873_splice	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.2_5'Flank	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	873					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCTATACAGCAAAAAAAACG	0.512											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	65836146	A	-	65836146	8	5	73	1	0	1	0	1	0	0	1	0	14151	144	5	0	2704	0	SF3B2	11	65836146	Splice_Site	DEL	A	TCGA-BR-8360-01A-11D-2340-08	218462	65836146	69170370	627	49805											
BRMS1	25855	broad.mit.edu	37	chr11	66108741	66108741	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggctccgtgtattcaggGgctctctcagcccccacttc	11	15	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:66108741G>A	uc001ohp.1	-	4	441	c.294C>T	c.(292-294)GCC>GCT	p.A98A	BRMS1_uc001oho.1_Silent_p.A98A|BRMS1_uc009yre.2_5'Flank	NM_015399	NP_056214	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1 isoform 1	98					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding				0						TGTATTCAGGGGCTCTCTCAG	0.612													A	66108741	G	A	66108741	2	1	73	1	0	0	0	0	0	0	0	1	1516	1219	43	4		4	BRMS1	11	66108741	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	272595	66108741	68897775	628	49806											
SLC29A2	3177	broad.mit.edu	37	chr11	66131818	66131818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgggacctctggggcacGtggcacagcatgaagagggg	18	10	1	2	rs144983007		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:66131818G>A	uc001oht.2	-	11	1366	c.1137C>T	c.(1135-1137)CAC>CAT	p.H379H	SLC29A2_uc001ohs.2_Silent_p.H259H|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Silent_p.H259H|SLC29A2_uc001ohu.2_Silent_p.H379H|SLC29A2_uc001ohv.2_Missense_Mutation_p.R335C	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	379	Helical; (Potential).				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1						TCTGGGGCACGTGGCACAGCA	0.607													A	66131818	G	A	66131818	2	1	73	1	0	0	0	0	0	0	0	1	14535	1136	40	1		1	SLC29A2	11	66131818	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	23077	66131818	68874698	629	49807											
ADRBK1	156	broad.mit.edu	37	chr11	67051203	67051203	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaggtgaaagagagccccTttttccgctccctggactgg	13	11	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:67051203T>C	uc009yrn.1	+	16	1620	c.1354T>C	c.(1354-1356)TTT>CTT	p.F452L	ADRBK1_uc009yrm.1_Intron	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	452	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGAGAGCCCCTTTTTCCGCTC	0.532													C	67051203	T	C	67051203	3	2	73	1	0	0	0	0	1	0	0	0	343	1609	56	3	1416	3	ADRBK1	11	67051203	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	919385	67051203	67955313	630	49808											
SHANK2	22941	broad.mit.edu	37	chr11	70338494	70338494	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgggccgctgcttgatggtCgccaccctcggttccacagc	12	16	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:70338494C>T	uc001oqc.2	-	18	2463	c.2385G>A	c.(2383-2385)GCG>GCA	p.A795A	SHANK2_uc010rqn.1_Silent_p.A207A|SHANK2_uc001opz.2_Silent_p.A200A|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Silent_p.A197A|SHANK2_uc001opy.2_5'UTR|SHANK2_uc010rqo.1_Silent_p.A8A	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	416					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCTTGATGGTCGCCACCCTCG	0.652													T	70338494	C	T	70338494	2	4	73	1	0	0	0	0	0	0	0	1	14265	871	31	1		1	SHANK2	11	70338494	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3287291	70338494	64668022	631	49809											
NUMA1	4926	broad.mit.edu	37	chr11	71746965	71746965	+	Frame_Shift_Del	DEL	C	C	-													tacccaagagaggagtgcagCcccccgggtggcgtggagtg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:71746964_71746964GC>G	uc001orl.1	-	2	198	c.26_26GC>C	c.(25-27)gctfs	p.A9fs	NUMA1_uc001ork.1_Frame_Shift_Del_p.A9fs|NUMA1_uc001orm.1_Frame_Shift_Del_p.A9fs|NUMA1_uc009ysx.1_Frame_Shift_Del_p.A9fs|NUMA1_uc001oro.1_Frame_Shift_Del_p.A9fs|NUMA1_uc009ysy.2_Frame_Shift_Del_p.A9fs|NUMA1_uc001orp.3_Frame_Shift_Del_p.A9fs|NUMA1_uc001orq.3_Frame_Shift_Del_p.A9fs|NUMA1_uc021qmw.1_Frame_Shift_Del_p.A9fs	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	9					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGAGTGCAGCCCCCCGGGT	0.507			T	RARA	APL								-	71746965	C	-	71746965	7	5	73	1	0	1	0	1	0	0	0	0	10750	739	26	0	6422	0	NUMA1	11	71746965	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	1408471	71746965	63259551	632	49810											
ARAP1	116985	broad.mit.edu	37	chr11	72408052	72408052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctccagccaggttaggcGctgggcgcgagtgaagagcc	17	12	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:72408052G>A	uc001osu.2	-	22	3331	c.3142C>T	c.(3142-3144)CGC>TGC	p.R1048C	ARAP1_uc001osv.2_Missense_Mutation_p.R1048C|ARAP1_uc001osr.2_Missense_Mutation_p.R808C|ARAP1_uc001oss.2_Missense_Mutation_p.R803C|ARAP1_uc009yth.2_Missense_Mutation_p.R742C|ARAP1_uc010rre.1_Missense_Mutation_p.R803C	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1048	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						CAGGTTAGGCGCTGGGCGCGA	0.677													A	72408052	G	A	72408052	3	1	73	1	0	0	0	0	1	0	0	0	838	1087	38	1	1266	1	ARAP1	11	72408052	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	661087	72408052	62598464	633	49811											
ARHGEF17	9828	broad.mit.edu	37	chr11	73021527	73021527	+	Frame_Shift_Del	DEL	C	C	-													acaagatgatggaagcgatgCcccccctggaagccctgact							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:73021526_73021526GC>G	uc001otu.3	+	0	1864	c.1843_1843GC>G	c.(1843-1845)gccfs	p.A615fs		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	615					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGGAAGCGATGCCCCCCCTGG	0.617													-	73021527	C	-	73021527	7	5	73	1	0	1	0	1	0	0	0	0	900	739	26	0	1846	0	ARHGEF17	11	73021527	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	613475	73021527	61984989	634	49812											
DNAJB13	374407	broad.mit.edu	37	chr11	73676057	73676058	+	Frame_Shift_Ins	INS	-	-	A													cttattctttggctgcaccaINSaaaaaattaagatctccaga							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:73676056_73676057C>CA	uc001ouo.3	+	3	1219_1220	c.468_469C>CA	c.(466-471)accaaafs	p.T156fs		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	156					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					TTGGCTGCACCAAAAAAATTAA	0.569											OREG0021218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	73676058	-	A	73676057	7	5	73	1	0	1	1	0	0	0	0	0	4618	131	5	0	483	0	DNAJB13	11	73676057	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	654530	73676057	61330459	635	49813											
KCTD14	65987	broad.mit.edu	37	chr11	77728068	77728068	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaccaaaggcttgatttcGtagaactgagcctcacggta	10	9	1	4	rs143415219	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:77728068G>A	uc001oyw.3	-	2	364	c.339C>T	c.(337-339)TAC>TAT	p.Y113Y		NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	potassium channel tetramerisation domain	113	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			GCTTGATTTCGTAGAACTGAG	0.562													A	77728068	G	A	77728068	2	1	73	1	0	0	0	0	0	0	0	1	8101	1140	40	1		1	KCTD14	11	77728068	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	4052011	77728068	57278448	636	49814											
ODZ4	26011	broad.mit.edu	37	chr11	78440668	78440668	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcttgcagccagagatAgagatttcctcctgcaaagc	8	12	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:78440668A>G	uc001ozl.3	-	22	3622	c.3159T>C	c.(3157-3159)TCT>TCC	p.S1053S		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1053	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						AGCCAGAGATAGAGATTTCCT	0.582													G	78440668	A	G	78440668	2	3	73	1	0	0	0	0	0	0	0	1	10837	407	15	3		3	ODZ4	11	78440668	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	712600	78440668	56565848	637	49815											
PCF11	51585	broad.mit.edu	37	chr11	82879875	82879875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagtggggacacctctgcGgtttgagggcccaattggtc	14	11	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:82879875G>A	uc001ozx.3	+	8	2843	c.2498G>A	c.(2497-2499)CGG>CAG	p.R833Q	PCF11_uc010rsu.1_Missense_Mutation_p.R964Q	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	833	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						ACACCTCTGCGGTTTGAGGGC	0.552													A	82879875	G	A	82879875	3	1	73	1	0	0	0	0	1	0	0	0	11573	1116	39	1	2528	1	PCF11	11	82879875	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	4439207	82879875	52126641	638	49816											
SYTL2	54843	broad.mit.edu	37	chr11	85445089	85445089	+	Frame_Shift_Del	DEL	A	A	-													tagactgtggtcttgcagttAaaacttctgaatgagaatgc					rs145312920		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:85445088_85445088TA>T	uc010rth.2	-	5	1670	c.1281_1281TA>A	c.(1279-1281)ttafs	p.L427fs	SYTL2_uc010rtg.2_Frame_Shift_Del_p.L428fs|SYTL2_uc010rti.2_Frame_Shift_Del_p.L427fs|SYTL2_uc010rtj.2_Frame_Shift_Del_p.L379fs|SYTL2_uc001pbf.4_Frame_Shift_Del_p.L427fs|SYTL2_uc010rtf.2_Frame_Shift_Del_p.L285fs	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	427					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GTCTTGCAGTTAAAACTTCTG	0.383													-	85445089	A	-	85445089	7	5	73	1	0	1	0	1	0	0	0	0	15480	372	13	0	4057	0	SYTL2	11	85445089	Frame_Shift_Del	DEL	A	TCGA-BR-8360-01A-11D-2340-08	2565214	85445089	49561427	639	49817											
FZD4	8322	broad.mit.edu	37	chr11	86662733	86662733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacaatggttttcactgcGgggatggcccaggctgcaat	13	9	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:86662733G>A	uc001pce.2	-	2	1371	c.1065C>T	c.(1063-1065)CCC>CCT	p.P355P	PRSS23_uc001pcc.1_RNA	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	frizzled 4 precursor	355	Helical; Name=4; (Potential).				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTTCACTGCGGGGATGGCCC	0.478													A	86662733	G	A	86662733	2	1	73	1	0	0	0	0	0	0	0	1	6132	1103	39	1		1	FZD4	11	86662733	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1217644	86662733	48343783	640	49818											
CCDC67	159989	broad.mit.edu	37	chr11	93088580	93088580	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggaattaatggaacaaAttgacatcatggtaagcaac	8	6	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:93088580A>G	uc001pdq.2	+	3	173	c.73A>G	c.(73-75)ATT>GTT	p.I25V	CCDC67_uc001pdo.1_Missense_Mutation_p.I25V|CCDC67_uc001pdp.2_Missense_Mutation_p.I25V	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	25	Potential.									ovary(1)	1		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AATGGAACAAATTGACATCAT	0.388													G	93088580	A	G	93088580	3	3	73	1	0	0	0	0	1	0	0	0	2839	101	4	3	79	3	CCDC67	11	93088580	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	6425847	93088580	41917936	641	49819											
FOLR4	390243	broad.mit.edu	37	chr11	94040602	94040602	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcagggaagaaccgctGccccaaaggggcccagtgcc	13	16	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:94040602G>T	uc010rud.1	+	4	476	c.476G>T	c.(475-477)TGC>TTC	p.C159F		NM_001080486	NP_001073955	A6ND01	FOLR4_HUMAN	folate receptor 4 (delta) homolog	166						extracellular region	folic acid binding|receptor activity			ovary(1)	1						AAGAACCGCTGCCCCAAAGGG	0.597													T	94040602	G	T	94040602	3	4	73	1	0	0	0	0	1	0	0	0	5984	1319	46	5	490	5	FOLR4	11	94040602	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	952022	94040602	40965914	642	49820											
PDGFD	80310	broad.mit.edu	37	chr11	103814312	103814312	+	Frame_Shift_Del	DEL	T	T	-													cactgtatcaaattctgcaaTttttttgtccagagcatccg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:103814312delT	uc001phq.2	-	5	1012	c.640delA	c.(640-642)ATTfs	p.I214fs	PDGFD_uc001php.2_Frame_Shift_Del_p.I208fs	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	214					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		AATTCTGCAATTTTTTTGTCC	0.438													-	103814312	T	-	103814312	7	5	73	1	0	1	0	1	0	0	0	0	11660	1493	52	0	484	0	PDGFD	11	103814312	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	9773710	103814312	31192204	643	49821											
CASP5	838	broad.mit.edu	37	chr11	104872817	104872817	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccttgaagcagccttttcaTccccacgatgtcatagtgag	9	12	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:104872817T>C	uc010rva.1	-	5	687	c.655A>G	c.(655-657)ATG>GTG	p.M219V	CASP5_uc010ruz.1_Missense_Mutation_p.M232V|CASP5_uc010rvb.1_Missense_Mutation_p.M161V|CASP5_uc010rvc.1_Missense_Mutation_p.M77V|CASP5_uc009yxh.2_Missense_Mutation_p.M1V|CASP5_uc010rvd.1_Missense_Mutation_p.M1V	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor	219					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		AGCCTTTTCATCCCCACGATG	0.502													C	104872817	T	C	104872817	3	2	73	1	0	0	0	0	1	0	0	0	2674	1435	50	3	669	3	CASP5	11	104872817	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	1058505	104872817	30133699	644	49822											
KBTBD3	143879	broad.mit.edu	37	chr11	105924527	105924527	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagttttgtgaatgaataTgtatttctcagttgtggatg	10	4	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:105924527T>C	uc001pja.2	-	4	1529	c.889A>G	c.(889-891)ATA>GTA	p.I297V	KBTBD3_uc001pjb.2_Missense_Mutation_p.I297V|KBTBD3_uc009yxm.2_Missense_Mutation_p.I218V	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	BTB and kelch domain containing 3	293	Kelch 1.									ovary(1)|central_nervous_system(1)	2		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TGAATGAATATGTATTTCTCA	0.368													C	105924527	T	C	105924527	3	2	73	1	0	0	0	0	1	0	0	0	7994	1464	51	3	953	3	KBTBD3	11	105924527	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	1051710	105924527	29081989	645	49823											
CUL5	8065	broad.mit.edu	37	chr11	107917013	107917014	+	Frame_Shift_Ins	INS	-	-	A													cagggatgtgcatgcagtctINSgtctttgggatgataaaggc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:107917012_107917013C>CA	uc001pjv.3	+	2	817_818	c.150_151C>CA	c.(148-153)gtctgtfs	p.V50fs	CUL5_uc001pju.3_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	50				VCL -> FCF (in Ref. 2; AAB70253).	G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TGCATGCAGTCTGTCTTTGGGA	0.337													A	107917014	-	A	107917013	7	5	73	1	0	1	1	0	0	0	0	0	4059	1580	55	0	161	0	CUL5	11	107917013	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	1992486	107917013	27089503	646	49824											
SIK2	23235	broad.mit.edu	37	chr11	111594498	111594498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctccacttccggtccccGggctgctcctcctctgccca	8	22	1	0	rs34223841	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:111594498G>A	uc001plt.2	+	15	2544	c.2426G>A	c.(2425-2427)CGG>CAG	p.R809Q		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	809					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						TCCGGTCCCCGGGCTGCTCCT	0.522													A	111594498	G	A	111594498	3	1	73	1	0	0	0	0	1	0	0	0	14318	1116	39	1	2484	1	SIK2	11	111594498	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	3677485	111594498	23412018	647	49825											
BCO2	83875	broad.mit.edu	37	chr11	112064635	112064635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactaatgtcaactatgtgcGgtacaagggtgattactacc	9	8	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:112064635G>A	uc001pnf.2	+	4	668	c.551G>A	c.(550-552)CGG>CAG	p.R184Q	BCO2_uc001pne.1_Missense_Mutation_p.R11Q|BCO2_uc001png.2_Intron|BCO2_uc001pnh.2_Missense_Mutation_p.R150Q|BCO2_uc010rwt.1_Missense_Mutation_p.R79Q|BCO2_uc009yyn.2_Missense_Mutation_p.R150Q|BCO2_uc001pni.2_Missense_Mutation_p.R150Q	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	184					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						AACTATGTGCGGTACAAGGGT	0.393													A	112064635	G	A	112064635	3	1	73	1	0	0	0	0	1	0	0	0	1385	1116	39	1	565	1	BCO2	11	112064635	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	470137	112064635	22941881	648	49826											
UPK2	7379	broad.mit.edu	37	chr11	118827067	118827068	+	Frame_Shift_Ins	INS	-	-	C													ctcccagcccagcatggcacINSccctgctgcccatccggacc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:118827066_118827067A>AC	uc001puh.3	+	0	59_60	c.6_7A>AC	c.(4-9)gcacccfs	p.A2fs		NM_006760	NP_006751	O00526	UPK2_HUMAN	Homo sapiens uroplakin 2 (UPK2), mRNA.	2					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CCAGCATGGCACCCCTGCTGCC	0.649													C	118827068	-	C	118827067	7	5	73	1	0	1	1	0	0	0	0	0	17006	507	18	0	9	0	UPK2	11	118827067	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	6762432	118827067	16179449	649	49827											
UPK2	7379	broad.mit.edu	37	chr11	118827661	118827661	+	Frame_Shift_Del	DEL	C	C	-													agagcctgctggttgccttgCccccctgtcacctcacagga							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:118827660_118827660GC>G	uc001puh.3	+	1	197	c.144_144GC>G	c.(142-144)ttgfs	p.L48fs		NM_006760	NP_006751	O00526	UPK2_HUMAN	Homo sapiens uroplakin 2 (UPK2), mRNA.	48					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TGGTTGCCTTGCCCCCCTGTC	0.602											OREG0021391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	118827661	C	-	118827661	7	5	73	1	0	1	0	1	0	0	0	0	17006	739	26	0	151	0	UPK2	11	118827661	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	594	118827661	16178855	650	49828											
CCDC153	283152	broad.mit.edu	37	chr11	119061043	119061043	+	Frame_Shift_Del	DEL	G	G	-													ctggtggcctcaaagatccaGggggggtgagtccaaactgg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:119061042_119061042AG>A	uc010rze.2	-	6	814	c.600_600CT>T	c.(598-600)cctfs	p.P200fs		NM_001145018	NP_001138490	Q494R4	CC153_HUMAN	Homo sapiens coiled-coil domain containing 153 (CCDC153), mRNA.	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGA	0.572													-	119061043	G	-	119061043	7	5	73	1	0	1	0	1	0	0	0	0	2787	1000	35	0	37	0	CCDC153	11	119061043	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	233382	119061043	15945473	651	49829											
USP2	9099	broad.mit.edu	37	chr11	119230349	119230349	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagtgttgctcaggcactGcagaattgagttcatgaagc	12	9	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:119230349G>A	uc001pwm.3	-	4	1142	c.847C>T	c.(847-849)CAG>TAG	p.Q283*	USP2_uc001pwl.3_Nonsense_Mutation_p.Q74*|USP2_uc001pwn.3_Nonsense_Mutation_p.Q40*	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	283					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CTCAGGCACTGCAGAATTGAG	0.547													A	119230349	G	A	119230349	4	1	73	1	0	0	0	0	0	1	0	0	17048	1328	46	2	1010	2	USP2	11	119230349	Nonsense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	169306	119230349	15776167	652	49830											
TRIM29	23650	broad.mit.edu	37	chr11	120008124	120008124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtggtctcggaaggcggCgccctccaggtggggcttga	18	11	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:120008124C>T	uc001pwz.2	-	1	740	c.616G>A	c.(616-618)GCC>ACC	p.A206T	TRIM29_uc001pxa.2_RNA	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	206					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CGGAAGGCGGCGCCCTCCAGG	0.642													T	120008124	C	T	120008124	3	4	73	1	0	0	0	0	1	0	0	0	16500	768	27	1	1186	1	TRIM29	11	120008124	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	777775	120008124	14998392	653	49831											
TECTA	7007	broad.mit.edu	37	chr11	120980130	120980130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagtacttcaaagacatgGcaaccttctctgccacttgg	9	11	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:120980130G>A	uc010rzo.1	+	3	409	c.409G>A	c.(409-411)GCA>ACA	p.A137T		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	137	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CAAAGACATGGCAACCTTCTC	0.458													A	120980130	G	A	120980130	3	1	73	1	0	0	0	0	1	0	0	0	15744	1203	42	2	419	2	TECTA	11	120980130	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	972006	120980130	14026386	654	49832											
SORL1	6653	broad.mit.edu	37	chr11	121393349	121393349	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctcagtcagctcctcaacCtccagctccggagaatgccc	8	18	3	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:121393349C>A	uc001pxx.2	+	10	1539	c.1459C>A	c.(1459-1461)CTC>ATC	p.L487I		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	487	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCTCCTCAACCTCCAGCTCCG	0.552													A	121393349	C	A	121393349	3	1	73	1	0	0	0	0	1	0	0	0	14934	681	24	5	1497	5	SORL1	11	121393349	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	413219	121393349	13613167	655	49833											
ROBO3	64221	broad.mit.edu	37	chr11	124742441	124742441	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggccctgctggagatAaaaggaggtacgtgcccatg	14	10	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:124742441A>C	uc001qbc.2	+	8	1515	c.1323A>C	c.(1321-1323)ATA>ATC	p.I441I		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	441	Extracellular (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGCTGGAGATAAAAGGAGGTA	0.527													C	124742441	A	C	124742441	2	2	73	1	0	0	0	0	0	0	0	1	13515	352	13	5		5	ROBO3	11	124742441	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	3349092	124742441	10264075	656	49834											
VPS26B	112936	broad.mit.edu	37	chr11	134109914	134109914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgctaccatcagccgccGcctcaatgatgttgtcaaag	9	13	3	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:134109914G>A	uc001qhe.2	+	3	866	c.410G>A	c.(409-411)CGC>CAC	p.R137H		NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B	137					protein transport|vacuolar transport	cytosol|retromer complex					0	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		ATCAGCCGCCGCCTCAATGAT	0.468													A	134109914	G	A	134109914	3	1	73	1	0	0	0	0	1	0	0	0	17195	1087	38	1	420	1	VPS26B	11	134109914	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	9367473	134109914	896602	657	49835											
CACNA2D4	93589	broad.mit.edu	37	chr12	1992068	1992068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctctgtccagatgatgtCgtggtcgtggttgatgacca	14	9	1	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:1992068C>T	uc001qjp.2	-	13	1681	c.1450G>A	c.(1450-1452)GAC>AAC	p.D484N	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.D372N	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	484	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CAGATGATGTCGTGGTCGTGG	0.592													T	1992068	C	T	1992068	3	4	73	1	0	0	0	0	1	0	0	0	2551	884	31	1	2067	1	CACNA2D4	12	1992068	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08		1992068	131859827	658	49836											
KCNA1	3736	broad.mit.edu	37	chr12	5021641	5021641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgatgctttctggtgggCggtggtgtccatgaccactg	14	12	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:5021641C>T	uc001qnh.2	+	2	2202	c.1097C>T	c.(1096-1098)GCG>GTG	p.A366V		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	366					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTCTGGTGGGCGGTGGTGTCC	0.542													T	5021641	C	T	5021641	3	4	73	1	0	0	0	0	1	0	0	0	8001	768	27	1	1099	1	KCNA1	12	5021641	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3029573	5021641	128830254	659	49837											
KCNA1	3736	broad.mit.edu	37	chr12	5021769	5021769	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgtacctgtcattgtgTccaatttcaactatttctac	5	12	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:5021769T>A	uc001qnh.2	+	2	2330	c.1225T>A	c.(1225-1227)TCC>ACC	p.S409T		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	409					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGTCATTGTGTCCAATTTCAA	0.527													A	5021769	T	A	5021769	3	1	73	1	0	0	0	0	1	0	0	0	8001	1667	58	5	1227	5	KCNA1	12	5021769	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	128	5021769	128830126	660	49838											
CHD4	1108	broad.mit.edu	37	chr12	6687228	6687228	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctagcagccagtagtcatgcCgtcgatgccagatctcataa	9	12	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:6687228C>A	uc001qpo.2	-	36	5359	c.5195G>T	c.(5194-5196)CGG>CTG	p.R1732L	CHD4_uc001qpn.2_Missense_Mutation_p.R1725L|CHD4_uc001qpp.2_Missense_Mutation_p.R1757L|uc001qpq.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1732	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GTAGTCATGCCGTCGATGCCA	0.473													A	6687228	C	A	6687228	3	1	73	1	0	0	0	0	1	0	0	0	3327	652	23	5	563	5	CHD4	12	6687228	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1665459	6687228	127164667	661	49839											
CHD4	1108	broad.mit.edu	37	chr12	6692034	6692034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaatattcccaccaacacGggccaacagaggaggcaatg	9	12	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:6692034G>A	uc001qpo.2	-	28	4380	c.4216C>T	c.(4216-4218)CGT>TGT	p.R1406C	CHD4_uc001qpn.2_Missense_Mutation_p.R1399C|CHD4_uc001qpp.2_Missense_Mutation_p.R1431C|uc001qpq.1_Silent_p.T79T|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1406					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCACCAACACGGGCCAACAGA	0.498													A	6692034	G	A	6692034	3	1	73	1	0	0	0	0	1	0	0	0	3327	1116	39	1	1574	1	CHD4	12	6692034	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	4806	6692034	127159861	662	49840											
ACRBP	84519	broad.mit.edu	37	chr12	6749371	6749371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaatccagcccgtaaaagCggcctgattctggggaccct	10	13	1	1	rs114920773	by1000genomes	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:6749371C>T	uc001qpu.1	-	8	1328	c.1280G>A	c.(1279-1281)CGC>CAC	p.R427H	LPAR5_uc010sff.1_5'Flank|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Missense_Mutation_p.R394H	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	proacrosin binding protein sp32 precursor	427						acrosomal vesicle|extracellular region				central_nervous_system(1)	1						CCCGTAAAAGCGGCCTGATTC	0.637													T	6749371	C	T	6749371	3	4	73	1	0	0	0	0	1	0	0	0	170	768	27	1	363	1	ACRBP	12	6749371	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	57337	6749371	127102524	663	49841											
CLSTN3	9746	broad.mit.edu	37	chr12	7303159	7303159	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtggagagcatcactgtGtatgaagagatcctgaggca	16	6	1	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:7303159G>A	uc001qsr.2	+	15	2543	c.2265G>A	c.(2263-2265)GTG>GTA	p.V755V	CLSTN3_uc001qss.2_Silent_p.V767V	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	755	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						GCATCACTGTGTATGAAGAGA	0.607													A	7303159	G	A	7303159	2	1	73	1	0	0	0	0	0	0	0	1	3563	1364	48	4		4	CLSTN3	12	7303159	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	553788	7303159	126548736	664	49842											
GDF3	9573	broad.mit.edu	37	chr12	7842978	7842978	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atctccaggaataacccgaaAtttttccgggggttgtcatt	9	9	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:7842978A>T	uc001qte.2	-	2	627	c.591T>A	c.(589-591)AAT>AAA	p.N197K		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	growth differentiation factor 3 precursor	197					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						ATAACCCGAAATTTTTCCGGG	0.473													T	7842978	A	T	7842978	3	4	73	1	0	0	0	0	1	0	0	0	6315	98	4	5	507	5	GDF3	12	7842978	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	539819	7842978	126008917	665	49843											
TAS2R10	50839	broad.mit.edu	37	chr12	10978047	10978047	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcctagaattaagataaaTgagtgaccccagggatagat	9	6	0	5			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:10978047T>G	uc001qyy.1	-	1	822	c.822A>C	c.(820-822)TCA>TCC	p.S274S		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	274	Helical; Name=7; (Potential).				sensory perception of taste	integral to membrane	taste receptor activity				0						TTAAGATAAATGAGTGACCCC	0.413													G	10978047	T	G	10978047	2	3	73	1	0	0	0	0	0	0	0	1	15563	1451	51	5		5	TAS2R10	12	10978047	Silent	SNP	T	TCGA-BR-8360-01A-11D-2340-08	3135069	10978047	122873848	666	49844											
TAS2R14	50840	broad.mit.edu	37	chr12	11091290	11091290	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataagactggaaaatcgtgTaaagttacttgaatcagaac	8	5	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:11091290T>C	uc010shi.1	-	1	517	c.517A>G	c.(517-519)ACA>GCA	p.T173A	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	173	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity				0						GAAAATCGTGTAAAGTTACTT	0.353													C	11091290	T	C	11091290	3	2	73	1	0	0	0	0	1	0	0	0	15565	1638	57	3	439	3	TAS2R14	12	11091290	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	113243	11091290	122760605	667	49845											
WBP11	51729	broad.mit.edu	37	chr12	14944192	14944192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaggcatatctgcaaacCgtacactcagacctaagggg	9	12	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:14944192C>T	uc001rci.2	-	9	1087	c.926G>A	c.(925-927)CGG>CAG	p.R309Q		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	309	Interaction with PP1 (By similarity).				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			ovary(1)|lung(1)	2						ATCTGCAAACCGTACACTCAG	0.428													T	14944192	C	T	14944192	3	4	73	1	0	0	0	0	1	0	0	0	17255	652	23	1	1015	1	WBP11	12	14944192	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3852902	14944192	118907703	668	49846											
C12orf60	144608	broad.mit.edu	37	chr12	14975984	14975984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgactgaattgtttagcCgcagtatgaatactcaaatc	7	9	1	3	rs150460169	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:14975984C>T	uc001rcj.3	+	2	319	c.115C>T	c.(115-117)CGC>TGC	p.R39C		NM_175874	NP_787070	Q5U649	CL060_HUMAN	hypothetical protein LOC144608	39										ovary(1)|central_nervous_system(1)	2						ATTGTTTAGCCGCAGTATGAA	0.338													T	14975984	C	T	14975984	3	4	73	1	0	0	0	0	1	0	0	0	1703	652	23	1	117	1	C12orf60	12	14975984	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	31792	14975984	118875911	669	49847											
PDE3A	5139	broad.mit.edu	37	chr12	20766597	20766597	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctatacctgttctgactctgAagagagctctgaaaaagaca	8	9	3	5			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:20766597A>T	uc001reh.1	+	3	1254	c.1232A>T	c.(1231-1233)GAA>GTA	p.E411V		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	411					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TCTGACTCTGAAGAGAGCTCT	0.428													T	20766597	A	T	20766597	3	4	73	1	0	0	0	0	1	0	0	0	11637	246	9	5	1242	5	PDE3A	12	20766597	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	5790613	20766597	113085298	670	49848											
SLCO1B1	10599	broad.mit.edu	37	chr12	21391984	21391984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatattatattaatttatgCcatgaagaaaaaatatcaag	4	3	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:21391984C>T	uc001req.3	+	15	2041	c.1937C>T	c.(1936-1938)GCC>GTC	p.A646V		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	646	Helical; Name=12; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ttaatttatGCCATGAAGAAA	0.274													T	21391984	C	T	21391984	3	4	73	1	0	0	0	0	1	0	0	0	14723	739	26	2	1991	2	SLCO1B1	12	21391984	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	625387	21391984	112459911	671	49849											
ABCC9	10060	broad.mit.edu	37	chr12	22035805	22035805	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgtttatagtttttggCtgctgcattccaaatggaaa	8	7	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:22035805C>A	uc001rfi.1	-	14	1934	c.1914G>T	c.(1912-1914)CAG>CAT	p.Q638H	ABCC9_uc001rfh.2_Missense_Mutation_p.Q638H|ABCC9_uc001rfj.1_Intron	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	638	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAGTTTTTGGCTGCTGCATTC	0.403													A	22035805	C	A	22035805	3	1	73	1	0	0	0	0	1	0	0	0	59	796	28	5	2977	5	ABCC9	12	22035805	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	643821	22035805	111816090	672	49850											
IFLTD1	160492	broad.mit.edu	37	chr12	25671789	25671789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctatccaatctgcctccagCggtggatgtattgtgtggtt	11	9	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:25671789C>T	uc001rgs.2	-	7	1216	c.1066G>A	c.(1066-1068)GCT>ACT	p.A356T	IFLTD1_uc001rgt.1_Missense_Mutation_p.A259T|IFLTD1_uc010sji.1_Missense_Mutation_p.A377T|IFLTD1_uc010sjj.1_Missense_Mutation_p.A293T|IFLTD1_uc009zjc.2_Missense_Mutation_p.A337T	NM_152590	NP_689803	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	356						intermediate filament	structural molecule activity			ovary(2)|central_nervous_system(1)	3	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					CTGCCTCCAGCGGTGGATGTA	0.522											OREG0031252	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	T	25671789	C	T	25671789	3	4	73	1	0	0	0	0	1	0	0	0	7530	768	27	1	108	1	IFLTD1	12	25671789	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3635984	25671789	108180106	673	49851											
ITPR2	3709	broad.mit.edu	37	chr12	26640150	26640151	+	Frame_Shift_Ins	INS	-	-	T													tttaaagaatttttctgactINSttttttgttcatgcaactgc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:26640149_26640150C>CT	uc001rhg.3	-	39	5822_5823	c.5405_5406G>AG	c.(5404-5406)aagfs	p.K1802fs	ITPR2_uc009zjg.1_5'UTR	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1802					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ATTTTTCTGACTTTTTTTGTTC	0.327													T	26640151	-	T	26640150	7	5	73	1	0	1	1	0	0	0	0	0	7921	1609	56	0	2772	0	ITPR2	12	26640150	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	968361	26640150	107211745	674	49852											
DENND5B	160518	broad.mit.edu	37	chr12	31604972	31604973	+	Frame_Shift_Ins	INS	-	-	A													taatctgcaaacatctgtgtINSaaaacggttagcaaagacct							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:31604972_31604973insA	uc001rki.1	-	5	1716_1717	c.1530_1531insT	c.(1528-1533)TTTACAfs	p.F510fs	DENND5B_uc001rkh.1_Frame_Shift_Ins_p.F545fs|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_Frame_Shift_Ins_p.F532fs|DENND5B_uc001rkk.1_Frame_Shift_Ins_p.F432fs	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	510_511	dDENN.					integral to membrane				ovary(1)|central_nervous_system(1)	2						AACATCTGTGTAAAACGGTTAG	0.45													A	31604973	-	A	31604972	7	5	73	1	0	1	1	0	0	0	0	0	4437	1638	57	0	2361	0	DENND5B	12	31604972	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	4964822	31604972	102246923	675	49853	194	2									
DENND5B	160518	broad.mit.edu	37	chr12	31604973	31604974	+	Frame_Shift_Ins	INS	-	-	A													aatctgcaaacatctgtgtaINSaaacggttagcaaagacctc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:31604972_31604973T>TA	uc001rkh.1	-	6	1786_1787	c.1635_1636A>TA	c.(1633-1638)tttacafs	p.F545fs	DENND5B_uc001rki.1_Frame_Shift_Ins_p.F510fs|DENND5B_uc001rkj.3_Frame_Shift_Ins_p.F532fs|DENND5B_uc001rkk.1_Frame_Shift_Ins_p.F432fs	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	510	dDENN.					integral to membrane		p.S545S(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AACATCTGTGTAAAACGGTTAG	0.45													A	31604974	-	A	31604973	7	5	73	1	0	1	1	0	0	0	0	0	4437	359	13	0	2362	0	DENND5B	12	31604973	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	1	31604973	102246922	676	49854	194	2									
ARID2	196528	broad.mit.edu	37	chr12	46245344	46245344	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtacaaactgtgcccatttcGaacttacaaatattgccagg	7	10	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:46245344G>A	uc001ros.1	+	15	3438	c.3438G>A	c.(3436-3438)TCG>TCA	p.S1146S	ARID2_uc001ror.2_Silent_p.S1146S|ARID2_uc009zkg.1_Silent_p.S602S|ARID2_uc009zkh.1_Silent_p.S773S|ARID2_uc001rou.1_Silent_p.S480S	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1146					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGCCCATTTCGAACTTACAAA	0.483													A	46245344	G	A	46245344	2	1	73	1	0	0	0	0	0	0	0	1	915	1045	37	1		1	ARID2	12	46245344	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	14640371	46245344	87606551	677	49855											
MLL2	8085	broad.mit.edu	37	chr12	49438211	49438211	+	Frame_Shift_Del	DEL	T	T	-													cgatatggtttacgcttgcgTtttttgctttcctcggtctc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:49438210_49438210GT>G	uc001rta.4	-	19	5059	c.5059_5059AC>C	c.(5059-5061)cgcfs	p.R1687fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1687					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TTACGCTTGCGTTTTTTGCTT	0.597			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)	OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	49438211	T	-	49438211	7	5	73	1	0	1	0	1	0	0	0	0	9621	1722	60	0	11695	0	MLL2	12	49438211	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	3192867	49438211	84413684	678	49856											
KCNH3	23416	broad.mit.edu	37	chr12	49935520	49935520	+	Frame_Shift_Del	DEL	G	G	-													tcagcgaaaccaagaaccgaGggggccccgacagatggaag							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:49935519_49935519AG>A	uc001ruh.1	+	2	677	c.417_417AG>A	c.(415-417)cgafs	p.R139fs	KCNH3_uc010smj.1_Frame_Shift_Del_p.R79fs	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	139	PAC.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCAAGAACCGAGGGGGCCCCG	0.587													-	49935520	G	-	49935520	7	5	73	1	0	1	0	1	0	0	0	0	8033	1000	35	0	428	0	KCNH3	12	49935520	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	497309	49935520	83916375	679	49857											
PRPF40B	25766	broad.mit.edu	37	chr12	50025258	50025258	+	Frame_Shift_Del	DEL	C	C	-													agtcagagaccaccagctatCccccccatgccacctggcat							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:50025257_50025257TC>T	uc001rur.1	+	1	155	c.92_92TC>T	c.(91-93)atcfs	p.I31fs	PRPF40B_uc001rup.1_Frame_Shift_Del_p.I53fs|PRPF40B_uc001ruq.1_Frame_Shift_Del_p.I25fs|PRPF40B_uc001rus.1_5'Flank	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	31	Pro-rich.				RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCACCAGCTATCCCCCCCATG	0.607													-	50025258	C	-	50025258	7	5	73	1	0	1	0	1	0	0	0	0	12572	845	30	0	99	0	PRPF40B	12	50025258	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	89738	50025258	83826637	680	49858											
GPD1	2819	broad.mit.edu	37	chr12	50501526	50501526	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttgctgacctgatcacTacctgctatggagggcggaa	14	9	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:50501526T>C	uc001rvz.2	+	6	822	c.789T>C	c.(787-789)ACT>ACC	p.T263T	GPD1_uc001rwa.2_Silent_p.T240T	NM_005276	NP_005267	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	263					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity				0					NADH(DB00157)	ACCTGATCACTACCTGCTATG	0.597													C	50501526	T	C	50501526	2	2	73	1	0	0	0	0	0	0	0	1	6604	1509	53	3		3	GPD1	12	50501526	Silent	SNP	T	TCGA-BR-8360-01A-11D-2340-08	476268	50501526	83350369	681	49859											
EIF4B	1975	broad.mit.edu	37	chr12	53413753	53413753	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaggttgaaaggttttggTtatgctgaatttgaggacct	14	3	0	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:53413753T>C	uc001sbh.3	+	4	626	c.420T>C	c.(418-420)GGT>GGC	p.G140G	EIF4B_uc009zmp.1_RNA|EIF4B_uc010snu.1_Silent_p.G140G|EIF4B_uc010snv.1_Intron|EIF4B_uc001sbi.2_5'UTR	NM_001417	NP_001408	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	140	RRM.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(1)|kidney(1)	2						AAGGTTTTGGTTATGCTGAAT	0.443													C	53413753	T	C	53413753	2	2	73	1	0	0	0	0	0	0	0	1	5027	1712	60	3		3	EIF4B	12	53413753	Silent	SNP	T	TCGA-BR-8360-01A-11D-2340-08	2912227	53413753	80438142	682	49860											
AAAS	8086	broad.mit.edu	37	chr12	53701391	53701391	+	Frame_Shift_Del	DEL	C	C	-													ggtcatgaatagagcctccaCccccagcagggggttcctgg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:53701390_53701390AC>A	uc001scr.4	-	15	1687	c.1524_1524GT>T	c.(1522-1524)ggtfs	p.G508fs	AAAS_uc001scs.4_Frame_Shift_Del_p.G475fs	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.	508					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						TAGAGCCTCCACCCCCAGCAG	0.617													-	53701391	C	-	53701391	7	5	73	1	0	1	0	1	0	0	0	0	8	507	18	0	121	0	AAAS	12	53701391	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	287638	53701391	80150504	683	49861											
ZBTB39	9880	broad.mit.edu	37	chr12	57398126	57398126	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgcaggctatggttagcGtcactggcaacattcttctc	10	10	3	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:57398126G>A	uc001sml.1	-	2	662	c.576C>T	c.(574-576)GAC>GAT	p.D192D	RDH16_uc010sqx.1_5'Flank	NM_014830	NP_055645	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1						TATGGTTAGCGTCACTGGCAA	0.542													A	57398126	G	A	57398126	2	1	73	1	0	0	0	0	0	0	0	1	17537	1136	40	1		1	ZBTB39	12	57398126	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	3696735	57398126	76453769	684	49862											
LRP1	4035	broad.mit.edu	37	chr12	57570998	57570998	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccggtgacattgagcaccCaagggcaatcgcactggatc	13	12	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:57570998C>A	uc001snd.2	+	25	4632	c.4166C>A	c.(4165-4167)CCA>CAA	p.P1389Q		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1389	Extracellular (Potential).|LDL-receptor class B 9.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATTGAGCACCCAAGGGCAATC	0.637													A	57570998	C	A	57570998	3	1	73	1	0	0	0	0	1	0	0	0	8951	594	21	5	4264	5	LRP1	12	57570998	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	172872	57570998	76280897	685	49863											
LRP1	4035	broad.mit.edu	37	chr12	57572242	57572243	+	Frame_Shift_Ins	INS	-	-	G													gtttgcagtgacgctgtacgINSggggggaggtctactggact					rs139915490		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:57572241_57572242C>CG	uc001snd.3	+	26	4927_4928	c.4461_4462C>CG	c.(4459-4464)tacgggfs	p.Y1487fs		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1487					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGGT	0.589													G	57572243	-	G	57572242	7	5	73	1	0	1	1	0	0	0	0	0	8951	1116	39	0	4568	0	LRP1	12	57572242	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	1244	57572242	76279653	686	49864											
R3HDM2	22864	broad.mit.edu	37	chr12	57648750	57648750	+	Frame_Shift_Del	DEL	C	C	-													ctcagcagtcccactgttgtCccccccaccccctccaggca							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:57648749_57648749TC>T	uc009zpm.1	-	21	2773	c.2738_2738GA>A	c.(2737-2739)gacfs	p.D913fs	R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Frame_Shift_Del_p.D608fs|R3HDM2_uc001snr.2_Frame_Shift_Del_p.D640fs|R3HDM2_uc001sns.2_Frame_Shift_Del_p.D913fs|R3HDM2_uc001snt.2_Frame_Shift_Del_p.D927fs	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	913						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCCACTGTTGTCCCCCCCACC	0.632													-	57648750	C	-	57648750	7	5	73	1	0	1	0	1	0	0	0	0	12888	855	30	0	197	0	R3HDM2	12	57648750	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	76508	57648750	76203145	687	49865											
MBD6	114785	broad.mit.edu	37	chr12	57921401	57921401	+	Frame_Shift_Del	DEL	C	C	-													ccccctccaactcagggagaCccccccaactccttagccct							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:57921400_57921400AC>A	uc001soj.1	+	7	2417	c.2193_2193AC>A	c.(2191-2193)agafs	p.R731fs	MBD6_uc001sok.1_Frame_Shift_Del_p.R598fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	731	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACTCAGGGAGACCCCCCCAAC	0.602													-	57921401	C	-	57921401	7	5	73	1	0	1	0	1	0	0	0	0	9348	507	18	0	2216	0	MBD6	12	57921401	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	272651	57921401	75930494	688	49866											
METTL1	4234	broad.mit.edu	37	chr12	58162893	58162893	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtagaactttcttcccctcCtcagttgaggtgcctagatg	9	12	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:58162893C>A	uc010ssd.1	-	6	765	c.717G>T	c.(715-717)GAG>GAT	p.E239D	CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.2_3'UTR	NM_005371	NP_005362	Q9UBP6	TRMB_HUMAN	methyltransferase-like protein 1 isoform a	239	S-adenosyl-L-methionine binding.					cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding				0	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			TCTTCCCCTCCTCAGTTGAGG	0.542													A	58162893	C	A	58162893	3	1	73	1	0	0	0	0	1	0	0	0	9493	680	24	5	117	5	METTL1	12	58162893	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	241492	58162893	75689002	689	49867											
LRIG3	121227	broad.mit.edu	37	chr12	59272641	59272641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgcatttgctgaaatacttCctgcactgttctgagctgtg	9	9	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:59272641C>T	uc001sqr.2	-	14	2294	c.2048G>A	c.(2047-2049)GGA>GAA	p.G683E	LRIG3_uc009zqh.2_Missense_Mutation_p.G623E|LRIG3_uc010ssh.1_RNA	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	683	Ig-like C2-type 2.					integral to membrane				skin(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;1.17e-18)			TGAAATACTTCCTGCACTGTT	0.443													T	59272641	C	T	59272641	3	4	73	1	0	0	0	0	1	0	0	0	8946	855	30	4	1335	4	LRIG3	12	59272641	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1109748	59272641	74579254	690	49868											
GRIP1	23426	broad.mit.edu	37	chr12	66814553	66814553	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgacgagggggtctcctggTtttctactggatggtgctgt	15	7	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:66814553T>G	uc001stk.2	-	14	1870	c.1629A>C	c.(1627-1629)AAA>AAC	p.K543N	GRIP1_uc010sta.1_Missense_Mutation_p.K487N|GRIP1_uc001stj.2_Missense_Mutation_p.K325N|GRIP1_uc001stl.1_Missense_Mutation_p.K435N|GRIP1_uc001stm.2_Missense_Mutation_p.K543N	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	595	PDZ 5.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GGTCTCCTGGTTTTCTACTGG	0.368													G	66814553	T	G	66814553	3	3	73	1	0	0	0	0	1	0	0	0	6787	1722	60	5	1645	5	GRIP1	12	66814553	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	7541912	66814553	67037342	691	49869											
PTPRB	5787	broad.mit.edu	37	chr12	70948972	70948972	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaccactgtgaagtatTtcacagctccattggtgtcg	8	12	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:70948972T>A	uc001swb.3	-	18	4487	c.4457A>T	c.(4456-4458)AAA>ATA	p.K1486I	PTPRB_uc010sto.1_Missense_Mutation_p.K1396I|PTPRB_uc010stp.1_Missense_Mutation_p.K1396I|PTPRB_uc001swc.3_Missense_Mutation_p.K1704I|PTPRB_uc001swa.3_Missense_Mutation_p.K1616I	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1486	Fibronectin type-III 17.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGTGAAGTATTTCACAGCTCC	0.453													A	70948972	T	A	70948972	3	1	73	1	0	0	0	0	1	0	0	0	12796	1841	64	5	1596	5	PTPRB	12	70948972	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	4134419	70948972	62902923	692	49870											
PTPRR	5801	broad.mit.edu	37	chr12	71286586	71286586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaattgacaatctggtggCgtttgcttacttgagcttcg	11	8	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:71286586C>T	uc001swi.1	-	2	646	c.230G>A	c.(229-231)CGC>CAC	p.R77H		NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	77	Extracellular (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AATCTGGTGGCGTTTGCTTAC	0.448													T	71286586	C	T	71286586	3	4	73	1	0	0	0	0	1	0	0	0	12810	768	27	1	1795	1	PTPRR	12	71286586	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	337614	71286586	62565309	693	49871											
MYF6	4618	broad.mit.edu	37	chr12	81102715	81102715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaacgcaaactcccctgCgtggaggaagtggtggagaa	16	8	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:81102715C>T	uc001szf.1	+	3	758	c.705C>T	c.(703-705)TGC>TGT	p.C235C		NM_002469	NP_002460	P23409	MYF6_HUMAN	myogenic factor 6	235					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						AACTCCCCTGCGTGGAGGAAG	0.537													T	81102715	C	T	81102715	2	4	73	1	0	0	0	0	0	0	0	1	10028	776	27	1		1	MYF6	12	81102715	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	9816129	81102715	52749180	694	49872											
CEP290	80184	broad.mit.edu	37	chr12	88443060	88443060	+	Frame_Shift_Del	DEL	T	T	-													actcccaattgttctgaaagTttttttaccttctcttctaa							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:88443059_88443059GT>G	uc001tar.3	-	53	7686	c.7342_7342AC>C	c.(7342-7344)cttfs	p.L2448fs	CEP290_uc001taq.3_Frame_Shift_Del_p.L1508fs|C12orf29_uc001tao.3_3'UTR|C12orf29_uc001tap.3_Non-coding_Transcript|C12orf29_uc009zsk.3_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	2448					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TGTTCTGAAAGTTTTTTTACC	0.313													-	88443060	T	-	88443060	7	5	73	1	0	1	0	1	0	0	0	0	3253	1722	60	0	102	0	CEP290	12	88443060	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	7340345	88443060	45408835	695	49873											
VEZT	55591	broad.mit.edu	37	chr12	95660289	95660289	+	Frame_Shift_Del	DEL	A	A	-													gccaaactacaagtgaccctAaaaaaatacagcgttcattt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:95660288_95660288TA>T	uc001tdz.2	+	4	695	c.590_590TA>T	c.(589-591)ctafs	p.L197fs	VEZT_uc001tds.3_Frame_Shift_Del_p.L149fs|VEZT_uc001tdv.3_Frame_Shift_Del_p.L166fs|VEZT_uc009zsy.1_Frame_Shift_Del_p.L39fs|VEZT_uc001tdr.2_Frame_Shift_Del_p.L39fs|VEZT_uc001tdt.2_Frame_Shift_Del_p.L149fs|VEZT_uc009zsz.1_Frame_Shift_Del_p.L197fs|VEZT_uc001tdw.1_Frame_Shift_Del_p.L149fs|VEZT_uc009zta.1_Frame_Shift_Del_p.L149fs	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA.	197						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CAAGTGACCCTAAAAAAATAC	0.423													-	95660289	A	-	95660289	7	5	73	1	0	1	0	1	0	0	0	0	17153	349	13	0	609	0	VEZT	12	95660289	Frame_Shift_Del	DEL	A	TCGA-BR-8360-01A-11D-2340-08	7217229	95660289	38191606	696	49874											
STAB2	55576	broad.mit.edu	37	chr12	104015889	104015889	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggacccagctgttcatcaGgtatgtctgatttttgtgta	10	7	3	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:104015889G>T	uc001tjw.2	+	5	673	c.487G>T	c.(487-489)GTG>TTG	p.V163L		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	163	Extracellular (Potential).|EGF-like 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CTGTTCATCAGGTATGTCTGA	0.428													T	104015889	G	T	104015889	3	4	73	1	0	0	0	0	1	0	0	0	15237	1014	35	5	505	5	STAB2	12	104015889	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	8355600	104015889	29836006	697	49875											
STAB2	55576	broad.mit.edu	37	chr12	104121068	104121068	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catttcgtgaaagatctggtCggcccaggccccttcactgt	10	13	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:104121068C>T	uc001tjw.2	+	47	5061	c.4875C>T	c.(4873-4875)GTC>GTT	p.V1625V	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1625	Extracellular (Potential).|FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						AAGATCTGGTCGGCCCAGGCC	0.527													T	104121068	C	T	104121068	2	4	73	1	0	0	0	0	0	0	0	1	15237	871	31	1		1	STAB2	12	104121068	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	105179	104121068	29730827	698	49876											
PRDM4	11108	broad.mit.edu	37	chr12	108128295	108128295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgggacacttgatctggcGttctctaagaggaacacaag	11	9	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:108128295G>A	uc001tmp.2	-	12	2535	c.2098C>T	c.(2098-2100)CGC>TGC	p.R700C	PRDM4_uc010sww.1_Missense_Mutation_p.R107C|PRDM4_uc001tmq.2_RNA	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	700					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						TTGATCTGGCGTTCTCTAAGA	0.403													A	108128295	G	A	108128295	3	1	73	1	0	0	0	0	1	0	0	0	12459	1145	40	1	311	1	PRDM4	12	108128295	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	4007227	108128295	25723600	699	49877											
PRDM4	11108	broad.mit.edu	37	chr12	108134747	108134747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtatcttgaggtgggtccGcaggttgctgggatcactaa	14	7	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:108134747G>A	uc001tmp.2	-	10	2337	c.1900C>T	c.(1900-1902)CGG>TGG	p.R634W	PRDM4_uc010sww.1_Missense_Mutation_p.R41W|PRDM4_uc001tmq.2_RNA	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	634	C2H2-type 2.				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						AGGTGGGTCCGCAGGTTGCTG	0.448													A	108134747	G	A	108134747	3	1	73	1	0	0	0	0	1	0	0	0	12459	1086	38	1	517	1	PRDM4	12	108134747	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	6452	108134747	25717148	700	49878											
GLTP	51228	broad.mit.edu	37	chr12	110293442	110293442	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctggaagatcttctgcacGatccagccatggtacttctt	8	12	3	1	rs138733952		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:110293442G>A	uc001tpm.2	-	4	543	c.429C>T	c.(427-429)ATC>ATT	p.I143I	GLTP_uc010sxt.1_RNA	NM_016433	NP_057517	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	143						cytoplasm	glycolipid binding|glycolipid transporter activity				0		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		TCTTCTGCACGATCCAGCCAT	0.617													A	110293442	G	A	110293442	2	1	73	1	0	0	0	0	0	0	0	1	6471	1048	37	1		1	GLTP	12	110293442	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2158695	110293442	23558453	701	49879											
PPP1CC	5501	broad.mit.edu	37	chr12	111158936	111158936	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggcgttacaggtctcgtgGcatttggcttctttttctct	11	9	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:111158936G>T	uc001tru.2	-	7	1162	c.917C>A	c.(916-918)GCC>GAC	p.A306D		NM_002710	NP_002701	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma	306					cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process	cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|MLL5-L complex|nuclear speck|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity	p.A306S(1)		lung(2)|central_nervous_system(1)	3						AGGTCTCGTGGCATTTGGCTT	0.393													T	111158936	G	T	111158936	3	4	73	1	0	0	0	0	1	0	0	0	12351	1203	42	5	58	5	PPP1CC	12	111158936	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	865494	111158936	22692959	702	49880											
SH2B3	10019	broad.mit.edu	37	chr12	111884789	111884789	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaggtgggagacgagcAgcagctgaattcatggatgg	16	6	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:111884789A>G	uc001tse.2	+	4	1235	c.878A>G	c.(877-879)CAG>CGG	p.Q293R	SH2B3_uc010syf.1_Missense_Mutation_p.Q293R|SH2B3_uc001tsf.2_Missense_Mutation_p.Q293R|SH2B3_uc010syg.1_Missense_Mutation_p.Q91R	NM_005475	NP_005466	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	293	PH.				blood coagulation	cytosol	signal transducer activity			ovary(1)	1						GGAGACGAGCAGCAGCTGAAT	0.577													G	111884789	A	G	111884789	3	3	73	1	0	0	0	0	1	0	0	0	14229	188	7	3	888	3	SH2B3	12	111884789	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	725853	111884789	21967106	703	49881											
ACAD10	80724	broad.mit.edu	37	chr12	112186136	112186136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggcatcctggatcctcGttgccaactctgtgtgttta	11	11	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:112186136G>A	uc001tsq.2	+	17	2701	c.2501G>A	c.(2500-2502)CGT>CAT	p.R834H	ACAD10_uc001tsp.2_Missense_Mutation_p.R834H|ACAD10_uc009zvx.2_Missense_Mutation_p.R865H|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	834							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						CTGGATCCTCGTTGCCAACTC	0.532													A	112186136	G	A	112186136	3	1	73	1	0	0	0	0	1	0	0	0	108	1145	40	1	2660	1	ACAD10	12	112186136	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	301347	112186136	21665759	704	49882											
C12orf51	283450	broad.mit.edu	37	chr12	112650376	112650376	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccgcagtatgtgaagTacacccggcccttggctggc	13	14	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:112650376T>C	uc009zwc.2	-	42	6296	c.6278A>G	c.(6277-6279)TAC>TGC	p.Y2093C	C12orf51_uc001ttr.1_Missense_Mutation_p.Y268C	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						GTATGTGAAGTACACCCGGCC	0.562													C	112650376	T	C	112650376	3	2	73	1	0	0	0	0	1	0	0	0	1696	1638	57	3	5824	3	C12orf51	12	112650376	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	464240	112650376	21201519	705	49883											
SRRM4	84530	broad.mit.edu	37	chr12	119594447	119594447	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcggagccggagccggagAcggagccggacccgcacgag	18	13	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:119594447A>C	uc001txa.1	+	13	1972	c.1680A>C	c.(1678-1680)AGA>AGC	p.R560S		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	560	Ser-rich.|Arg-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						ggagccggagacggagccgga	0.423													C	119594447	A	C	119594447	3	2	73	1	0	0	0	0	1	0	0	0	15170	272	10	5	1730	5	SRRM4	12	119594447	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	6944071	119594447	14257448	706	49884											
RPLP0	6175	broad.mit.edu	37	chr12	120636777	120636777	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgacttcacatggggcaatGgcaccagcacgggcagcagc	14	12	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:120636777G>T	uc001txp.2	-	5	582	c.345C>A	c.(343-345)GCC>GCA	p.A115A	RPLP0_uc001txq.2_Silent_p.A115A|RPLP0_uc001txr.2_Silent_p.A115A|uc001txs.1_5'Flank	NM_053275	NP_444505	P05388	RLA0_HUMAN	ribosomal protein P0	115					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGGGGCAATGGCACCAGCAC	0.517													T	120636777	G	T	120636777	2	4	73	1	0	0	0	0	0	0	0	1	13604	1335	47	5		5	RPLP0	12	120636777	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1042330	120636777	13215118	707	49885											
RNF10	9921	broad.mit.edu	37	chr12	121002881	121002881	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttttccaatgtaggatgttCgacagcgtcacagatatctc	8	9	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:121002881C>T	uc001typ.3	+	11	2155	c.1672C>T	c.(1672-1674)CGA>TGA	p.R558*	RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Nonsense_Mutation_p.R469*	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	ring finger protein 10	558					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTAGGATGTTCGACAGCGTCA	0.453													T	121002881	C	T	121002881	4	4	73	1	0	0	0	0	0	1	0	0	13422	876	31	1	1714	1	RNF10	12	121002881	Nonsense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	366104	121002881	12849014	708	49886											
WDR66	144406	broad.mit.edu	37	chr12	122386901	122386901	+	Frame_Shift_Del	DEL	T	T	-													atatttcagaactacgttacTtttaacccaacaaataataa							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:122386901delT	uc009zxk.2	+	8	1345	c.1203delT	c.(1201-1203)ACTfs	p.T401fs		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	401	WD 3.						calcium ion binding			ovary(1)|skin(1)	2	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ACTACGTTACTTTTAACCCAA	0.239													-	122386901	T	-	122386901	7	5	73	1	0	1	0	1	0	0	0	0	17314	1596	56	0	1229	0	WDR66	12	122386901	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	1384020	122386901	11464994	709	49887											
ARL6IP4	51329	broad.mit.edu	37	chr12	123464969	123464970	+	Frame_Shift_Del	DEL	GC	GC	-													accagccggggaggagggcgGcgcgcgcgagggtcgccttc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:123464969_123464970delGC	uc001ued.2	+	1	90_91	c.35_36delGC	c.(34-36)GGCfs	p.G12fs	ARL6IP4_uc001uec.2_Frame_Shift_Del_p.G12fs|ARL6IP4_uc001uee.2_Frame_Shift_Del_p.G12fs|ARL6IP4_uc001uef.2_Frame_Shift_Del_p.G12fs|ARL6IP4_uc001ueg.2_RNA|ARL6IP4_uc009zxt.2_5'Flank|ARL6IP4_uc001ueh.2_5'Flank|ARL6IP4_uc001uei.2_5'Flank	NM_018694	NP_061164	Q66PJ3	AR6P4_HUMAN	SRp25 nuclear protein isoform 1	12					RNA splicing	nucleus					0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)		GAGGAGGGCGGCGCGCGCGAGG	0.713													-	123464970	GC	-	123464969	7	5	73	1	0	1	0	1	0	0	0	0	943	1203	42	0	37	0	ARL6IP4	12	123464969	Frame_Shift_Del	DEL	GC	TCGA-BR-8360-01A-11D-2340-08	1078068	123464969	10386926	710	49888											
SBNO1	55206	broad.mit.edu	37	chr12	123782547	123782547	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaatccgttgcccatcttcCgttcttagccgcacgatctg	7	15	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:123782547C>T	uc010tap.1	-	30	4017	c.4017G>A	c.(4015-4017)ACG>ACA	p.T1339T	SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Silent_p.T1338T|SBNO1_uc010taq.1_Silent_p.T290T	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	1339							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GCCCATCTTCCGTTCTTAGCC	0.428													T	123782547	C	T	123782547	2	4	73	1	0	0	0	0	0	0	0	1	13862	639	23	1		1	SBNO1	12	123782547	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	317578	123782547	10069348	711	49889											
UBC	7316	broad.mit.edu	37	chr12	125397684	125397684	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggactctttctggatgtTgtagtcagacagggtacgac	14	7	3	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:125397684T>C	uc001ugs.3	-	2	1082	c.634A>G	c.(634-636)AAC>GAC	p.N212D	UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Missense_Mutation_p.N212D|UBC_uc001ugt.2_Missense_Mutation_p.N212D|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Missense_Mutation_p.N60D	NM_021009	NP_066289	P0CG48	UBC_HUMAN	ubiquitin C	212	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TTCTGGATGTTGTAGTCAGAC	0.498													C	125397684	T	C	125397684	3	2	73	1	0	0	0	0	1	0	0	0	16839	1812	63	3	1427	3	UBC	12	125397684	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	1615137	125397684	8454211	712	49890											
NOC4L	79050	broad.mit.edu	37	chr12	132632428	132632428	+	Frame_Shift_Del	DEL	C	C	-													caggccaggctccgcaggtgCcccccgccttttggaacaat							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:132632428delC	uc001ujz.1	+	6	648	c.607delC	c.(607-609)CCCfs	p.P203fs		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog	203					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		TCCGCAGGTGCCCCCCGCCTT	0.682													-	132632428	C	-	132632428	7	5	73	1	0	1	0	1	0	0	0	0	10515	739	26	0	629	0	NOC4L	12	132632428	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	7234744	132632428	1219467	713	49891											
ANKLE2	23141	broad.mit.edu	37	chr12	133331306	133331306	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactggacacaccccatagtAcaggggcggctccttagacg	11	14	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:133331306A>G	uc001ukx.2	-	2	662	c.595T>C	c.(595-597)TAC>CAC	p.Y199H	ANKLE2_uc001uky.3_Missense_Mutation_p.Y137H	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	199						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		ACCCCATAGTACAGGGGCGGC	0.577													G	133331306	A	G	133331306	3	3	73	1	0	0	0	0	1	0	0	0	633	391	14	3	2269	3	ANKLE2	12	133331306	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	698878	133331306	520589	714	49892											
EFHA1	221154	broad.mit.edu	37	chr13	22141028	22141028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagaaaactgcatgaagCgctgcttacgaagagacggt	13	7	0	4	rs138030448		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:22141028C>T	uc001uof.2	-	2	288	c.266G>A	c.(265-267)CGC>CAC	p.R89H		NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	EF-hand domain family, member A1	89							calcium ion binding				0		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		CTGCATGAAGCGCTGCTTACG	0.348													T	22141028	C	T	22141028	3	4	73	1	0	0	0	0	1	0	0	0	4943	768	27	1	1082	1	EFHA1	13	22141028	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08		22141028	93028850	715	49893											
PARP4	143	broad.mit.edu	37	chr13	25030500	25030500	+	Frame_Shift_Del	DEL	T	T	-													tcgctttctttttctggatgTttttcaacccacattcttgg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:25030499_25030499GT>G	uc001upl.3	-	20	2648	c.2542_2542AC>C	c.(2542-2544)catfs	p.H848fs	PARP4_uc010tdc.2_Frame_Shift_Del_p.H848fs	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	848					DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TTTTCTGGATGTTTTTCAACC	0.393													-	25030500	T	-	25030500	7	5	73	1	0	1	0	1	0	0	0	0	11463	1722	60	0	2689	0	PARP4	13	25030500	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	2889472	25030500	90139378	716	49894											
ATP12A	479	broad.mit.edu	37	chr13	25265211	25265211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagttggaaatgagaagacGcccattgccattgagatcga	13	7	0	3	rs61739266	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:25265211G>A	uc001upp.2	+	8	1078	c.891G>A	c.(889-891)ACG>ACA	p.T297T	ATP12A_uc010aaa.2_Silent_p.T303T	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	297	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ATGAGAAGACGCCCATTGCCA	0.522													A	25265211	G	A	25265211	2	1	73	1	0	0	0	0	0	0	0	1	1122	1074	38	1		1	ATP12A	13	25265211	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	234711	25265211	89904667	717	49895											
NUPL1	9818	broad.mit.edu	37	chr13	25882001	25882001	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtacttcaactccagcaacTacatctgctccttcaagtgg	6	13	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:25882001T>C	uc001uqi.2	+	2	411	c.165T>C	c.(163-165)ACT>ACC	p.T55T	NUPL1_uc001uqg.1_Silent_p.T55T|NUPL1_uc001uqj.2_Silent_p.T55T	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1 isoform a	55	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore					0		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CTCCAGCAACTACATCTGCTC	0.423													C	25882001	T	C	25882001	2	2	73	1	0	0	0	0	0	0	0	1	10774	1509	53	3		3	NUPL1	13	25882001	Silent	SNP	T	TCGA-BR-8360-01A-11D-2340-08	616790	25882001	89287877	718	49896											
MTUS2	23281	broad.mit.edu	37	chr13	29855999	29855999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaatccacttccacacccGctggtaagactttgtgcctt	6	14	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:29855999G>A	uc001usl.3	+	4	2891	c.2833G>A	c.(2833-2835)GCT>ACT	p.A945T		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	935	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						TTCCACACCCGCTGGTAAGAC	0.542													A	29855999	G	A	29855999	3	1	73	1	0	0	0	0	1	0	0	0	9966	1087	38	1	2847	1	MTUS2	13	29855999	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	3973998	29855999	85313879	719	49897											
BRCA2	675	broad.mit.edu	37	chr13	32911074	32911075	+	Frame_Shift_Ins	INS	-	-	A													acaaatctaagagtaatccaINSaaaaaatcaagaagaaacta					rs80359335		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:32911073_32911074C>CA	uc001uub.1	+	10	2808_2809	c.2581_2582C>CA	c.(2581-2583)caafs	p.Q861fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	861	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGAGTAATCCAAAAAAATCAA	0.322			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			A	32911075	-	A	32911074	7	5	73	1	0	1	1	0	0	0	0	0	1499	130	5	0	2620	0	BRCA2	13	32911074	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	3055075	32911074	82258804	720	49898											
PDS5B	23047	broad.mit.edu	37	chr13	33344286	33344286	+	Frame_Shift_Del	DEL	A	A	-													tggagaagcctagaggcaggAaaaaaacgcccgtcacagaa							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:33344285_33344285GA>G	uc010abf.3	+	31	3837	c.3651_3651GA>G	c.(3649-3651)aggfs	p.R1217fs	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	1217					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CTAGAGGCAGGAAAAAAACGC	0.388													-	33344286	A	-	33344286	7	5	73	1	0	1	0	1	0	0	0	0	11692	247	9	0	3774	0	PDS5B	13	33344286	Frame_Shift_Del	DEL	A	TCGA-BR-8360-01A-11D-2340-08	433212	33344286	81825592	721	49899											
ENOX1	55068	broad.mit.edu	37	chr13	43930092	43930092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagagcggcttcgtgctcCgagtagtgcattatggcagg	15	9	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:43930092C>T	uc001uza.3	-	8	1086	c.786G>A	c.(784-786)TCG>TCA	p.S262S	ENOX1_uc001uzb.3_Silent_p.S262S|ENOX1_uc001uzc.3_Silent_p.S262S|ENOX1_uc001uyz.3_5'UTR|ENOX1_uc010tfm.1_Silent_p.S75S	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	262					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CTTCGTGCTCCGAGTAGTGCA	0.637													T	43930092	C	T	43930092	2	4	73	1	0	0	0	0	0	0	0	1	5126	639	23	1		1	ENOX1	13	43930092	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	10585806	43930092	71239786	722	49900											
SLC25A30	253512	broad.mit.edu	37	chr13	45983139	45983139	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcctcggtatctaatttcCttaaattttgcatcattcgt	4	9	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:45983139C>A	uc001vag.2	-	3	272	c.135G>T	c.(133-135)AAG>AAT	p.K45N	SLC25A30_uc010tfs.1_Intron|SLC25A30_uc001vah.2_Intron|SLC25A30_uc010tft.1_Translation_Start_Site	NM_001010875	NP_001010875	Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	45	Solcar 1.				mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		ATCTAATTTCCTTAAATTTTG	0.398													A	45983139	C	A	45983139	3	1	73	1	0	0	0	0	1	0	0	0	14494	680	24	5	772	5	SLC25A30	13	45983139	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2053047	45983139	69186739	723	49901											
ZC3H13	23091	broad.mit.edu	37	chr13	46543661	46543661	+	Frame_Shift_Del	DEL	T	T	-													tcacctttggattttttacgTtttttttcaatgcttttctt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:46543661delT	uc010tfw.1	-	13	3024	c.3018delA	c.(3016-3018)AAAfs	p.K1006fs	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Frame_Shift_Del_p.K1006fs|ZC3H13_uc001vat.1_Frame_Shift_Del_p.K1006fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1006	Lys-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATTTTTTACGTTTTTTTTCAA	0.373													-	46543661	T	-	46543661	7	5	73	1	0	1	0	1	0	0	0	0	17562	1722	60	0	1692	0	ZC3H13	13	46543661	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	560522	46543661	68626217	724	49902											
CAB39L	81617	broad.mit.edu	37	chr13	49933960	49933960	+	Frame_Shift_Del	DEL	T	T	-													ttaaatatctgggtcacatcTttttttccctgttaaagaaa							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:49933959_49933959CT>C	uc001vcw.3	-	3	784	c.286_286AG>G	c.(286-288)gatfs	p.D96fs	CAB39L_uc001vcx.3_Frame_Shift_Del_p.D96fs|CAB39L_uc010adf.3_Frame_Shift_Del_p.D93fs	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	Homo sapiens calcium binding protein 39-like (CAB39L), transcript variant 1, mRNA.	96					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		TGGGTCACATCTTTTTTTCCC	0.333													-	49933960	T	-	49933960	7	5	73	1	0	1	0	1	0	0	0	0	2526	1606	56	0	752	0	CAB39L	13	49933960	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	3390299	49933960	65235918	725	49903											
PCDH8	5100	broad.mit.edu	37	chr13	53422116	53422116	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacctccaaggggatgcgCgtgcccactgccgcaccctc	12	18	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:53422116C>T	uc001vhi.2	-	1	659	c.456G>A	c.(454-456)ACG>ACA	p.T152T	PCDH8_uc001vhj.2_Silent_p.T152T	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	152	Extracellular (Potential).|Cadherin 2.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGGGGATGCGCGTGCCCACTG	0.711													T	53422116	C	T	53422116	2	4	73	1	0	0	0	0	0	0	0	1	11517	755	27	1		1	PCDH8	13	53422116	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3488156	53422116	61747762	726	49904											
MYCBP2	23077	broad.mit.edu	37	chr13	77844149	77844149	+	Frame_Shift_Del	DEL	T	T	-													gagcataccctaaccaagacTttttttcttttctgtttcta							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:77844148_77844148CT>C	uc021rks.1	-	6	1506	c.1239_1239AG>G	c.(1237-1239)aagfs	p.K413fs	MYCBP2_uc010aev.3_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTAACCAAGACTTTTTTTCTT	0.294													-	77844149	T	-	77844149	7	5	73	1	0	1	0	1	0	0	0	0	10018	1609	56	0	13106	0	MYCBP2	13	77844149	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	24422033	77844149	37325729	727	49905											
SLITRK1	114798	broad.mit.edu	37	chr13	84455642	84455642	+	Frame_Shift_Del	DEL	T	T	-													caacagaatccaaagcagcaTttttaaagcgagcaattcat							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:84455642delT	uc001vlk.2	-	1	887	c.1delA	c.(1-3)ATGfs	p.M1fs		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	1						integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CAAAGCAGCATTTTTAAAGCG	0.458													-	84455642	T	-	84455642	7	5	73	1	0	1	0	1	0	0	0	0	14742	1493	52	0	2093	0	SLITRK1	13	84455642	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	6611493	84455642	30714236	728	49906											
SLITRK5	26050	broad.mit.edu	37	chr13	88330333	88330333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaactatgacctgagacGcccccatcagtatttgcacc	6	17	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:88330333G>A	uc001vln.2	+	2	2909	c.2690G>A	c.(2689-2691)CGC>CAC	p.R897H	SLITRK5_uc010tic.1_Missense_Mutation_p.R656H	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	897	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GACCTGAGACGCCCCCATCAG	0.617													A	88330333	G	A	88330333	3	1	73	1	0	0	0	0	1	0	0	0	14746	1087	38	1	2692	1	SLITRK5	13	88330333	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	3874691	88330333	26839545	729	49907											
FAM155A	728215	broad.mit.edu	37	chr13	108518596	108518596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagtctgtgtgcctgggCggcgggcgaggactccccca	18	12	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:108518596C>T	uc001vql.2	-	1	865	c.349G>A	c.(349-351)GCC>ACC	p.A117T		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	117						integral to membrane	binding			skin(1)	1						TGTGCCTGGGCGGCGGGCGAG	0.562													T	108518596	C	T	108518596	3	4	73	1	0	0	0	0	1	0	0	0	5465	768	27	1	1039	1	FAM155A	13	108518596	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	20188263	108518596	6651282	730	49908											
RAB20	55647	broad.mit.edu	37	chr13	111176500	111176500	+	Frame_Shift_Del	DEL	C	C	-													ggtgaggatgatggcggccgCcccccggcagtacatggagc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:111176499_111176499GC>G	uc001vqy.3	-	1	423	c.218_218GC>C	c.(217-219)gcgfs	p.A73fs		NM_017817	NP_060287	Q9NX57	RAB20_HUMAN	Homo sapiens RAB20, member RAS oncogene family (RAB20), mRNA.	73					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			GATGGCGGCCGCCCCCCGGCA	0.607													-	111176500	C	-	111176500	7	5	73	1	0	1	0	1	0	0	0	0	12907	739	26	0	491	0	RAB20	13	111176500	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	2657904	111176500	3993378	731	49909											
MCF2L	23263	broad.mit.edu	37	chr13	113740490	113740490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgaggacctgcaggaggCgctgagctccatcctgggca	16	12	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:113740490C>T	uc001vsu.2	+	21	2493	c.2471C>T	c.(2470-2472)GCG>GTG	p.A824V	MCF2L_uc001vsq.2_Missense_Mutation_p.A824V|MCF2L_uc010tjr.1_Missense_Mutation_p.A767V|MCF2L_uc001vsr.2_Missense_Mutation_p.A771V|MCF2L_uc001vss.3_Missense_Mutation_p.A765V|MCF2L_uc010tjs.1_Missense_Mutation_p.A765V|MCF2L_uc001vst.1_Missense_Mutation_p.A729V	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	797	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CTGCAGGAGGCGCTGAGCTCC	0.627													T	113740490	C	T	113740490	3	4	73	1	0	0	0	0	1	0	0	0	9379	768	27	1	2648	1	MCF2L	13	113740490	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2563990	113740490	1429388	732	49910											
ATP4B	496	broad.mit.edu	37	chr13	114312428	114312428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaactcctccatgcgctggCcacacgtcttcttctcctgc	8	17	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:114312428C>T	uc001vtz.2	-	1	74	c.32G>A	c.(31-33)GGC>GAC	p.G11D	ATP4B_uc010agy.1_Missense_Mutation_p.G11D	NM_000705	NP_000696	P51164	ATP4B_HUMAN	hydrogen/potassium-exchanging ATPase 4B	11	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)		Rabeprazole(DB01129)	CATGCGCTGGCCACACGTCTT	0.677													T	114312428	C	T	114312428	3	4	73	1	0	0	0	0	1	0	0	0	1146	739	26	2	871	2	ATP4B	13	114312428	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	571938	114312428	857450	733	49911											
FAM70B	348013	broad.mit.edu	37	chr13	114504642	114504642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgcagagccctcgcccGcctactatgagttcatcggc	11	16	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:114504642G>A	uc001vuh.2	+	7	553	c.526G>A	c.(526-528)GCC>ACC	p.A176T		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	176						integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			GCCCTCGCCCGCCTACTATGA	0.632													A	114504642	G	A	114504642	3	1	73	1	0	0	0	0	1	0	0	0	5606	1087	38	1	552	1	FAM70B	13	114504642	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	192214	114504642	665236	734	49912											
TEP1	7011	broad.mit.edu	37	chr14	20842664	20842664	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgactctgggtcccagAgccccacagagccatcactg	10	16	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:20842664A>G	uc001vxe.2	-	44	6435	c.6395T>C	c.(6394-6396)CTC>CCC	p.L2132P	TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.2_Missense_Mutation_p.L1475P|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.L2024P|TEP1_uc010tlh.1_Missense_Mutation_p.L470P	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2132	WD 12.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGGGTCCCAGAGCCCCACAGA	0.537													G	20842664	A	G	20842664	3	3	73	1	0	0	0	0	1	0	0	0	15756	304	11	3	1536	3	TEP1	14	20842664	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08		20842664	86506876	735	49913											
METT11D1	64745	broad.mit.edu	37	chr14	21464375	21464375	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgtgttcacagtgtccccAtgaactcccttgtccccagt	7	14	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:21464375A>G	uc001vyn.2	+	12	1201	c.1004A>G	c.(1003-1005)CAT>CGT	p.H335R	METT11D1_uc001vym.2_Missense_Mutation_p.H335R|METT11D1_uc001vyo.2_Missense_Mutation_p.H335R|METT11D1_uc001vyp.2_Missense_Mutation_p.H177R|METT11D1_uc001vyq.2_Missense_Mutation_p.H177R	NM_022734	NP_073571	Q9H7H0	MET17_HUMAN	methyltransferase 11 domain containing 1 isoform	335					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity				0	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CAGTGTCCCCATGAACTCCCT	0.478													G	21464375	A	G	21464375	3	3	73	1	0	0	0	0	1	0	0	0	9491	217	8	3	1050	3	METT11D1	14	21464375	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	621711	21464375	85885165	736	49914											
SUPT16H	11198	broad.mit.edu	37	chr14	21820850	21820851	+	Frame_Shift_Ins	INS	-	-	G													gttacttcctctttttcttgINSgggggtgcagagctgtgtct							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:21820849_21820850T>TG	uc001wao.2	-	25	3465_3466	c.3126_3127A>CA	c.(3124-3129)cccaagfs	p.P1042fs	SUPT16H_uc001wan.2_Frame_Shift_Ins_p.P186fs	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	1042					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.48													G	21820851	-	G	21820850	7	5	73	1	0	1	1	0	0	0	0	0	15393	1335	47	0	21	0	SUPT16H	14	21820850	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	356475	21820850	85528690	737	49915											
SUPT16H	11198	broad.mit.edu	37	chr14	21833073	21833073	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgttagtcaggtctgagaaTcctaaattgatgctgaaaac	9	6	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:21833073T>C	uc001wao.2	-	10	1485	c.1146A>G	c.(1144-1146)GGA>GGG	p.G382G		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	382					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GGTCTGAGAATCCTAAATTGA	0.428													C	21833073	T	C	21833073	2	2	73	1	0	0	0	0	0	0	0	1	15393	1422	50	3		3	SUPT16H	14	21833073	Silent	SNP	T	TCGA-BR-8360-01A-11D-2340-08	12223	21833073	85516467	738	49916											
PRMT5	10419	broad.mit.edu	37	chr14	23392040	23392040	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacataaggcatctcaaacTgggcctgtcagagacagaaa	9	11	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:23392040T>C	uc001whm.1	-	14	1581	c.1490A>G	c.(1489-1491)CAG>CGG	p.Q497R	PRMT5_uc001whl.1_Missense_Mutation_p.Q480R|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Missense_Mutation_p.Q391R|PRMT5_uc010tng.1_Missense_Mutation_p.Q436R|PRMT5_uc010tnh.1_Missense_Mutation_p.Q453R|PRMT5_uc001whn.1_Missense_Mutation_p.Q326R	NM_006109	NP_006100	O14744	ANM5_HUMAN	protein arginine methyltransferase 5 isoform a	497					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			ovary(1)	1	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CATCTCAAACTGGGCCTGTCA	0.483													C	23392040	T	C	23392040	3	2	73	1	0	0	0	0	1	0	0	0	12539	1580	55	3	439	3	PRMT5	14	23392040	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	1558967	23392040	83957500	739	49917											
LRRC16B	90668	broad.mit.edu	37	chr14	24534215	24534215	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggactctcggaggcaccGctgcctccactccagaagaa	10	16	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:24534215G>A	uc001wlj.2	+	33	3286	c.3129G>A	c.(3127-3129)CCG>CCA	p.P1043P	LRRC16B_uc001wlk.2_Silent_p.P139P	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1043										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		CGGAGGCACCGCTGCCTCCAC	0.647													A	24534215	G	A	24534215	2	1	73	1	0	0	0	0	0	0	0	1	8972	1074	38	1		1	LRRC16B	14	24534215	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1142175	24534215	82815325	740	49918											
RNF31	55072	broad.mit.edu	37	chr14	24619997	24619997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccaagcctgggcccccacGacgccttagtgcccccctgc	9	22	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:24619997G>A	uc001wmn.1	+	8	1637	c.1388G>A	c.(1387-1389)CGA>CAA	p.R463Q	RNF31_uc001wml.1_Missense_Mutation_p.R312Q|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.R278Q|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	463	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		GGGCCCCCACGACGCCTTAGT	0.612													A	24619997	G	A	24619997	3	1	73	1	0	0	0	0	1	0	0	0	13487	1058	37	1	1418	1	RNF31	14	24619997	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	85782	24619997	82729543	741	49919											
CTSG	1511	broad.mit.edu	37	chr14	25042973	25042973	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actttccataggagacgatgCcgtgggccacattgttacac	10	11	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:25042973C>G	uc001wpq.2	-	5	675	c.638G>C	c.(637-639)GGC>GCC	p.G213A		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	213	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2				GBM - Glioblastoma multiforme(265;0.0269)		GGAGACGATGCCGTGGGCCAC	0.557													G	25042973	C	G	25042973	3	3	73	1	0	0	0	0	1	0	0	0	4035	739	26	5	133	5	CTSG	14	25042973	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	422976	25042973	82306567	742	49920											
HEATR5A	25938	broad.mit.edu	37	chr14	31856515	31856515	+	Frame_Shift_Del	DEL	A	A	-													cgcaaggcttaggatatgagAaaaaaaggcagcaaaatttt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:31856514_31856514GA>G	uc001wrf.4	-	7	1186	c.1001_1001TC>C	c.(1000-1002)tctfs	p.S334fs	HEATR5A_uc010ami.3_5'UTR|HEATR5A_uc001wrg.1_5'UTR|HEATR5A_uc010tpk.1_Frame_Shift_Del_p.S334fs	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	328							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TAGGATATGAGAAAAAAAGGC	0.403													-	31856515	A	-	31856515	7	5	73	1	0	1	0	1	0	0	0	0	7031	246	9	0	5256	0	HEATR5A	14	31856515	Frame_Shift_Del	DEL	A	TCGA-BR-8360-01A-11D-2340-08	6813542	31856515	75493025	743	49921											
BAZ1A	11177	broad.mit.edu	37	chr14	35245128	35245129	+	Frame_Shift_Ins	INS	-	-	A													ttcattgaaaatttacctgaINSaaaatgaaatttctcttcag							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:35245127_35245128G>GA	uc001wsk.3	-	17	3398_3399	c.2830_2831C>TC	c.(2830-2832)tcafs	p.S944fs	BAZ1A_uc001wsl.3_Frame_Shift_Ins_p.S912fs	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	944					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AAATTTACCTGAAAAATGAAAT	0.332													A	35245129	-	A	35245128	7	5	73	1	0	1	1	0	0	0	0	0	1329	246	9	0	1880	0	BAZ1A	14	35245128	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	3388613	35245128	72104412	744	49922											
MIA2	117153	broad.mit.edu	37	chr14	39722040	39722040	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagatagtgatgaaaattcGaaaccatcagtagacaccga	8	7	1	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:39722040G>A	uc001wux.2	+	5	1850	c.1656G>A	c.(1654-1656)TCG>TCA	p.S552S		NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						extracellular region				ovary(1)|breast(1)	2	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		ATGAAAATTCGAAACCATCAG	0.378													A	39722040	G	A	39722040	2	1	73	1	0	0	0	0	0	0	0	1	9564	1045	37	1		1	MIA2	14	39722040	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	4476912	39722040	67627500	745	49923											
FBXO33	254170	broad.mit.edu	37	chr14	39871612	39871613	+	Frame_Shift_Ins	INS	-	-	T													catataacttactgtttaatINSttttttgccatcagggtcca							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:39871611_39871612A>AT	uc001wvk.3	-	1	1041_1042	c.703_704T>AT	c.(703-705)attfs	p.I235fs		NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	Homo sapiens F-box protein 33 (FBXO33), mRNA.	235										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TTACTGTTTAATTTTTTTGCCA	0.322													T	39871613	-	T	39871612	7	5	73	1	0	1	1	0	0	0	0	0	5743	1493	52	0	976	0	FBXO33	14	39871612	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	149572	39871612	67477928	746	49924											
LRFN5	145581	broad.mit.edu	37	chr14	42356114	42356114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattacacctcatgctttcGctgacctacgaaatttgagg	7	10	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:42356114G>A	uc001wvm.2	+	3	1484	c.286G>A	c.(286-288)GCT>ACT	p.A96T	LRFN5_uc010ana.2_Missense_Mutation_p.A96T	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	96	Extracellular (Potential).|LRR 2.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCATGCTTTCGCTGACCTACG	0.348										HNSCC(30;0.082)			A	42356114	G	A	42356114	3	1	73	1	0	0	0	0	1	0	0	0	8941	1087	38	1	288	1	LRFN5	14	42356114	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2484502	42356114	64993426	747	49925											
SOS2	6655	broad.mit.edu	37	chr14	50616749	50616749	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaagatcagactccaaaagTgtcagctgacgtgcaatttc	8	9	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:50616749T>C	uc001wxs.3	-	14	2459	c.2361A>G	c.(2359-2361)ACA>ACG	p.T787T	SOS2_uc010tql.1_Silent_p.T754T|SOS2_uc010tqm.1_RNA	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	787	Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					ACTCCAAAAGTGTCAGCTGAC	0.353													C	50616749	T	C	50616749	2	2	73	1	0	0	0	0	0	0	0	1	14937	1683	59	3		3	SOS2	14	50616749	Silent	SNP	T	TCGA-BR-8360-01A-11D-2340-08	8260635	50616749	56732791	748	49926											
BMP4	652	broad.mit.edu	37	chr14	54417102	54417102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagtgatgcttagggctaCgcttggccctccggcgtcgg	16	11	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:54417102C>T	uc001xal.3	-	3	1062	c.875G>A	c.(874-876)CGT>CAT	p.R292H	BMP4_uc010aoh.2_Missense_Mutation_p.R292H|BMP4_uc001xao.3_Missense_Mutation_p.R292H|BMP4_uc001xan.3_Missense_Mutation_p.R292H	NM_130851	NP_570912	P12644	BMP4_HUMAN	bone morphogenetic protein 4 preproprotein	292					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity				0						CTTAGGGCTACGCTTGGCCCT	0.627													T	54417102	C	T	54417102	3	4	73	1	0	0	0	0	1	0	0	0	1462	536	19	1	355	1	BMP4	14	54417102	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3800353	54417102	52932438	749	49927											
PELI2	57161	broad.mit.edu	37	chr14	56757067	56757067	+	Frame_Shift_Del	DEL	G	G	-													tcctggtgatgcatccacgaGggggcttcaccgaggagtcc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:56757066_56757066AG>A	uc001xch.3	+	4	874	c.588_588AG>A	c.(586-588)cgafs	p.R196fs		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA.	196					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						TGCATCCACGAGGGGGCTTCA	0.587													-	56757067	G	-	56757067	7	5	73	1	0	1	0	1	0	0	0	0	11722	1000	35	0	607	0	PELI2	14	56757067	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	2339965	56757067	50592473	750	49928											
NAA30	122830	broad.mit.edu	37	chr14	57863536	57863536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgcacaaaaagatgttcCgcagaggttatatagccatg	9	7	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:57863536C>T	uc001xcx.3	+	3	992	c.838C>T	c.(838-840)CGC>TGC	p.R280C	NAA30_uc010trk.1_Missense_Mutation_p.R22C|NAA30_uc010aow.2_RNA	NM_001011713	NP_001011713	Q147X3	NAA30_HUMAN	N-acetyltransferase 12	280	N-acetyltransferase.					cytoplasm	peptide alpha-N-acetyltransferase activity			skin(1)	1						AAAGATGTTCCGCAGAGGTTA	0.373													T	57863536	C	T	57863536	3	4	73	1	0	0	0	0	1	0	0	0	10122	652	23	1	844	1	NAA30	14	57863536	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1106469	57863536	49486004	751	49929											
C14orf135	64430	broad.mit.edu	37	chr14	60582091	60582091	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccgaaatcccttttatccGaaggatgtgcaaactgtgac	8	10	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:60582091G>A	uc001xer.3	+	3	1089	c.567G>A	c.(565-567)CCG>CCA	p.P189P	C14orf135_uc001xeq.2_Silent_p.P189P|C14orf135_uc010apm.2_5'Flank	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	423						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		CCTTTTATCCGAAGGATGTGC	0.353													A	60582091	G	A	60582091	2	1	73	1	0	0	0	0	0	0	0	1	1745	1045	37	1		1	C14orf135	14	60582091	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2718555	60582091	46767449	752	49930											
TRMT5	57570	broad.mit.edu	37	chr14	61446378	61446378	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaagttttgtcatgcctcGgacatcagaaggtggtgaaa	11	7	3	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:61446378G>A	uc001xff.3	-	2	329	c.238C>T	c.(238-240)CGA>TGA	p.R80*	SLC38A6_uc001xfg.1_5'Flank|SLC38A6_uc001xfh.1_5'Flank|SLC38A6_uc001xfi.2_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.2_5'Flank|SLC38A6_uc010trz.1_5'Flank	NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	80						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			central_nervous_system(2)|large_intestine(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		GTCATGCCTCGGACATCAGAA	0.378													A	61446378	G	A	61446378	4	1	73	1	0	0	0	0	0	1	0	0	16564	1124	39	1	1307	1	TRMT5	14	61446378	Nonsense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	864287	61446378	45903162	753	49931											
SYT16	83851	broad.mit.edu	37	chr14	62567283	62567283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatttccgtttataacaggcGtactatgaagcgtaaagaga	10	6	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:62567283G>A	uc001xfu.1	+	6	1993	c.1796G>A	c.(1795-1797)CGT>CAT	p.R599H	SYT16_uc010tse.1_Missense_Mutation_p.R157H	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	599	C2 2.									central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TATAACAGGCGTACTATGAAG	0.488													A	62567283	G	A	62567283	3	1	73	1	0	0	0	0	1	0	0	0	15469	1145	40	1	1818	1	SYT16	14	62567283	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1120905	62567283	44782257	754	49932											
SYNE2	23224	broad.mit.edu	37	chr14	64469920	64469920	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggtacaggaggaattcacTgaggaaaacaaattactaga	12	5	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:64469920T>G	uc001xgm.2	+	30	4499	c.4269T>G	c.(4267-4269)ACT>ACG	p.T1423T	SYNE2_uc001xgl.2_Silent_p.T1423T	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1423	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGGAATTCACTGAGGAAAACA	0.373													G	64469920	T	G	64469920	2	3	73	1	0	0	0	0	0	0	0	1	15443	1567	55	5		5	SYNE2	14	64469920	Silent	SNP	T	TCGA-BR-8360-01A-11D-2340-08	1902637	64469920	42879620	755	49933											
ZBTB1	22890	broad.mit.edu	37	chr14	64988802	64988802	+	Frame_Shift_Del	DEL	A	A	-													agccactatttgatgtatgtAaaaaaagttccgtgtccaaa							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:64988801_64988801TA>T	uc021rul.1	+	0	579	c.579_579TA>T	c.(577-579)tgtfs	p.C193fs	ZBTB1_uc001xhh.4_Frame_Shift_Del_p.C193fs|ZBTB1_uc010aqg.3_Frame_Shift_Del_p.C193fs|ZBTB1_uc001xhi.2_Frame_Shift_Del_p.C193fs|ZBTB1_uc021rum.1_5'Flank	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN	Homo sapiens zinc finger and BTB domain containing 1 (ZBTB1), transcript variant 1, mRNA.	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		TTGATGTATGTAAAAAAAGTT	0.403													-	64988802	A	-	64988802	7	5	73	1	0	1	0	1	0	0	0	0	17519	363	13	0	582	0	ZBTB1	14	64988802	Frame_Shift_Del	DEL	A	TCGA-BR-8360-01A-11D-2340-08	518882	64988802	42360738	756	49934											
GPHN	10243	broad.mit.edu	37	chr14	67578617	67578617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcgaattctggtgcaagctCggccaggccaagatatcagg	13	10	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:67578617C>T	uc001xiy.2	+	14	2475	c.1354C>T	c.(1354-1356)CGG>TGG	p.R452W	GPHN_uc001xix.2_Missense_Mutation_p.R485W|GPHN_uc010tss.1_Missense_Mutation_p.R498W|GPHN_uc010tst.1_Missense_Mutation_p.R421W|GPHN_uc010tsu.1_Missense_Mutation_p.R375W	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	452	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GGTGCAAGCTCGGCCAGGCCA	0.383			T	MLL	AL								T	67578617	C	T	67578617	3	4	73	1	0	0	0	0	1	0	0	0	6610	875	31	1	1511	1	GPHN	14	67578617	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2589815	67578617	39770923	757	49935											
PLEKHH1	57475	broad.mit.edu	37	chr14	68053850	68053851	+	Frame_Shift_Ins	INS	-	-	C													attgcactacaactgtgaacINSccccccaccaacccacccgg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:68053849_68053850A>AC	uc001xjl.1	+	28	4134_4135	c.3992_3993A>AC	c.(3991-3993)aacfs	p.N1331fs	PLEKHH1_uc010tsw.1_Frame_Shift_Ins_p.N899fs|PLEKHH1_uc001xjn.1_Frame_Shift_Ins_p.N846fs|PLEKHH1_uc010tsx.1_Frame_Shift_Ins_p.E272fs|PLEKHH1_uc001xjo.1_3'UTR|PLEKHH1_uc001xjp.1_Frame_Shift_Ins_p.N196fs	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	1331	FERM.					cytoskeleton	binding	p.P1330T(1)		endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ACAACTGTGAACCCCCCCACCA	0.515													C	68053851	-	C	68053850	7	5	73	1	0	1	1	0	0	0	0	0	12076	506	18	0	4103	0	PLEKHH1	14	68053850	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	475233	68053850	39295690	758	49936											
PAPLN	89932	broad.mit.edu	37	chr14	73718836	73718836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggagtgactgcagcgcGgagtgtggcggaggtgcggg	21	7	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:73718836G>A	uc010ttx.1	+	9	1117	c.954G>A	c.(952-954)GCG>GCA	p.A318A	PAPLN_uc001xnw.3_Silent_p.A291A|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.A318A	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	318	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		ACTGCAGCGCGGAGTGTGGCG	0.697													A	73718836	G	A	73718836	2	1	73	1	0	0	0	0	0	0	0	1	11428	1103	39	1		1	PAPLN	14	73718836	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	5664986	73718836	33630704	759	49937											
HEATR4	399671	broad.mit.edu	37	chr14	73989272	73989272	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgctctggcctccttctcAggaggcagaagccaggcttc	11	15	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:73989272A>G	uc010tub.1	-	3	907	c.585T>C	c.(583-585)CCT>CCC	p.P195P	HEATR4_uc010tua.1_Silent_p.P148P	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)		CCTCCTTCTCAGGAGGCAGAA	0.592													G	73989272	A	G	73989272	2	3	73	1	0	0	0	0	0	0	0	1	7030	175	7	3		3	HEATR4	14	73989272	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	270436	73989272	33360268	760	49938											
C14orf43	91748	broad.mit.edu	37	chr14	74205773	74205773	+	Frame_Shift_Del	DEL	G	G	-													tctgggttcatatctgggttGggggggaaggggtagggtgc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:74205773delG	uc001xot.2	-	2	1722	c.939delC	c.(937-939)CCCfs	p.P313fs	C14orf43_uc001xou.2_Frame_Shift_Del_p.P313fs|C14orf43_uc010tud.1_Frame_Shift_Del_p.P313fs|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	313	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		TATCTGGGTTGGGGGGGAAGG	0.662													-	74205773	G	-	74205773	7	5	73	1	0	1	0	1	0	0	0	0	1774	1335	47	0	2242	0	C14orf43	14	74205773	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	216501	74205773	33143767	761	49939											
C14orf115	55237	broad.mit.edu	37	chr14	74823805	74823805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcctggagctgcgggccCgcaccgtggtagagatgctg	16	12	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:74823805C>T	uc001xpw.3	+	2	510	c.319C>T	c.(319-321)CGC>TGC	p.R107C		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	107					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		GCTGCGGGCCCGCACCGTGGT	0.642													T	74823805	C	T	74823805	3	4	73	1	0	0	0	0	1	0	0	0	1740	652	23	1	321	1	C14orf115	14	74823805	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	618032	74823805	32525735	762	49940											
LTBP2	4053	broad.mit.edu	37	chr14	74978021	74978021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggagccaggggaattgacGcatctcccatcagggcaggt	14	10	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:74978021G>A	uc001xqa.2	-	19	3342	c.2955C>T	c.(2953-2955)TGC>TGT	p.C985C		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	985	EGF-like 7; calcium-binding (Potential).|Cys-rich.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGGAATTGACGCATCTCCCAT	0.592													A	74978021	G	A	74978021	2	1	73	1	0	0	0	0	0	0	0	1	9074	1079	38	1		1	LTBP2	14	74978021	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	154216	74978021	32371519	763	49941											
YLPM1	56252	broad.mit.edu	37	chr14	75230562	75230562	+	Frame_Shift_Del	DEL	A	A	-													atcagaagcagcagcagtacAaacaccagatgctccaccac							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:75230561_75230561CA>C	uc001xqj.4	+	0	493	c.369_369CA>C	c.(367-369)tacfs	p.Y123fs		NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	123	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGCAGCAGTACAAACACCAGA	0.667													-	75230562	A	-	75230562	7	5	73	1	0	1	0	1	0	0	0	0	17483	131	5	0	372	0	YLPM1	14	75230562	Frame_Shift_Del	DEL	A	TCGA-BR-8360-01A-11D-2340-08	252541	75230562	32118978	764	49942											
PGF	5228	broad.mit.edu	37	chr14	75412941	75412942	+	Frame_Shift_Del	DEL	TC	TC	-													gcagtctgtgggtctctgctTctctctcctcctcttccccc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:75412940_75412941TTC>T	uc001xqz.3	-	5	982_983	c.460_461GAA>A	c.(460-462)aagfs	p.K154fs	PGF_uc001xrb.3_Intron	NM_002632	NP_002623	P49763	PLGF_HUMAN	Homo sapiens placental growth factor (PGF), transcript variant 1, mRNA.	208					angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)		GGGTCTCTGCTTCTCTCTCCTC	0.653											OREG0022810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	75412942	TC	-	75412941	7	5	73	1	0	1	0	1	0	0	0	0	11788	1792	62	0	60	0	PGF	14	75412941	Frame_Shift_Del	DEL	TC	TCGA-BR-8360-01A-11D-2340-08	182379	75412941	31936599	765	49943											
ALKBH1	8846	broad.mit.edu	37	chr14	78146294	78146294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtaaacttcggggtctccGtttagtcgcttctttatacc	8	11	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:78146294G>A	uc001xuc.1	-	4	484	c.475C>T	c.(475-477)CGG>TGG	p.R159W	ALKBH1_uc001xud.1_RNA	NM_006020	NP_006011	Q13686	ALKB1_HUMAN	alkylated DNA repair protein alkB homolog	159					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(1)|skin(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CGGGGTCTCCGTTTAGTCGCT	0.398													A	78146294	G	A	78146294	3	1	73	1	0	0	0	0	1	0	0	0	526	1144	40	1	706	1	ALKBH1	14	78146294	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2733353	78146294	29203246	766	49944											
STON2	85439	broad.mit.edu	37	chr14	81743821	81743821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtcattgaggcccaggcGgcactctgcgagcccagaca	13	13	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:81743821G>A	uc010tvu.1	-	4	2035	c.1834C>T	c.(1834-1836)CGC>TGC	p.R612C	STON2_uc001xvk.1_Missense_Mutation_p.R612C|STON2_uc010tvt.1_Missense_Mutation_p.R409C	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	612	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGGCCCAGGCGGCACTCTGCG	0.517													A	81743821	G	A	81743821	3	1	73	1	0	0	0	0	1	0	0	0	15317	1116	39	1	889	1	STON2	14	81743821	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	3597527	81743821	25605719	767	49945											
FOXN3	1112	broad.mit.edu	37	chr14	89628970	89628970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccttggcgaagtgctggcGcttcttgtgctgggatgcgt	17	9	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:89628970G>A	uc001xxo.3	-	7	1398	c.1261C>T	c.(1261-1263)CGC>TGC	p.R421C	FOXN3_uc001xxn.3_Missense_Mutation_p.R399C|FOXN3_uc010atk.2_Missense_Mutation_p.R399C	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	checkpoint suppressor 1 isoform 1	421					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(2)|ovary(1)	3						AAGTGCTGGCGCTTCTTGTGC	0.612													A	89628970	G	A	89628970	3	1	73	1	0	0	0	0	1	0	0	0	6021	1087	38	1	215	1	FOXN3	14	89628970	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	7885149	89628970	17720570	768	49946											
FOXN3	1112	broad.mit.edu	37	chr14	89878534	89878534	+	Frame_Shift_Del	DEL	G	G	-													tgtcagagtgggcaggggatGggggggtgtcatcgtccagg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:89878533_89878533TG>T	uc001xxo.4	-	1	425	c.288_288CA>A	c.(286-288)ccafs	p.P96fs	FOXN3_uc001xxn.4_Frame_Shift_Del_p.P96fs|FOXN3_uc010atk.3_Frame_Shift_Del_p.P96fs|FOXN3_uc001xxp.2_Frame_Shift_Del_p.P96fs	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	96					DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P96fs*42(2)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGCAGGGGATGGGGGGGTGT	0.587													-	89878534	G	-	89878534	7	5	73	1	0	1	0	1	0	0	0	0	6021	1348	47	0	1209	0	FOXN3	14	89878534	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	249564	89878534	17471006	769	49947											
CCDC88C	440193	broad.mit.edu	37	chr14	91787575	91787575	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggtgctctggaggctctgAttctccttctccagcttcag	10	12	5	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:91787575A>G	uc010aty.2	-	13	1515	c.1416T>C	c.(1414-1416)AAT>AAC	p.N472N		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	472	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				GGAGGCTCTGATTCTCCTTCT	0.597													G	91787575	A	G	91787575	2	3	73	1	0	0	0	0	0	0	0	1	2865	330	12	3		3	CCDC88C	14	91787575	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	1909041	91787575	15561965	770	49948											
ATXN3	4287	broad.mit.edu	37	chr14	92560113	92560113	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatcgatcctgagcctctgAtactctggactgttgaacag	11	10	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:92560113A>G	uc001yac.3	-	4	366	c.297T>C	c.(295-297)TAT>TAC	p.Y99Y	ATXN3_uc010aug.2_Silent_p.Y84Y|ATXN3_uc001yad.3_Silent_p.Y44Y|ATXN3_uc010auh.2_Intron|ATXN3_uc001yae.3_Intron|ATXN3_uc010twl.1_Intron	NM_004993	NP_004984	P54252	ATX3_HUMAN	ataxin 3 reference isoform	99	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		TGAGCCTCTGATACTCTGGAC	0.328													G	92560113	A	G	92560113	2	3	73	1	0	0	0	0	0	0	0	1	1213	340	12	3		3	ATXN3	14	92560113	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	772538	92560113	14789427	771	49949											
KIAA1409	57578	broad.mit.edu	37	chr14	94044213	94044213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttgcctctgatcctggccGacgagttcagcacaatatgc	10	12	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:94044213G>A	uc001ybv.1	+	15	1789	c.1706G>A	c.(1705-1707)CGA>CAA	p.R569Q	KIAA1409_uc001ybs.1_Missense_Mutation_p.R569Q	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	746						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		GATCCTGGCCGACGAGTTCAG	0.443													A	94044213	G	A	94044213	3	1	73	1	0	0	0	0	1	0	0	0	8230	1058	37	1	1764	1	KIAA1409	14	94044213	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1484100	94044213	13305327	772	49950											
KIAA1409	57578	broad.mit.edu	37	chr14	94121610	94121610	+	Frame_Shift_Del	DEL	G	G	-													acaaaaagaatttaccagcaGggggtgctatgattcgctgt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:94121610delG	uc001ybv.1	+	37	6048	c.5965delG	c.(5965-5967)GGGfs	p.G1989fs	KIAA1409_uc001ybs.1_Frame_Shift_Del_p.G1967fs	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2144						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		TTTACCAGCAGGGGGTGCTAT	0.423													-	94121610	G	-	94121610	7	5	73	1	0	1	0	1	0	0	0	0	8230	1000	35	0	6041	0	KIAA1409	14	94121610	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	77397	94121610	13227930	773	49951											
BCL11B	64919	broad.mit.edu	37	chr14	99641438	99641438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggccgcgccgccccccgCgcccgggaccccgggcaccc	13	24	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:99641438C>T	uc001yga.2	-	4	2002	c.1735G>A	c.(1735-1737)GCG>ACG	p.A579T	BCL11B_uc001ygb.2_Missense_Mutation_p.A508T	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	579	Gly-rich.					nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ccgccccccgcgcccgggacc	0.552			T	TLX3	T-ALL								T	99641438	C	T	99641438	3	4	73	1	0	0	0	0	1	0	0	0	1364	768	27	1	953	1	BCL11B	14	99641438	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	5519828	99641438	7708102	774	49952											
HHIPL1	84439	broad.mit.edu	37	chr14	100119154	100119154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgagtggatccgcatcagCgagttcagagtctccgagga	14	9	3	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:100119154C>T	uc010avs.2	+	2	914	c.849C>T	c.(847-849)AGC>AGT	p.S283S	HHIPL1_uc001ygl.1_Silent_p.S283S	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	HHIP-like protein 1 isoform a	283					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			skin(2)	2		Melanoma(154;0.128)				TCCGCATCAGCGAGTTCAGAG	0.617													T	100119154	C	T	100119154	2	4	73	1	0	0	0	0	0	0	0	1	7093	767	27	1		1	HHIPL1	14	100119154	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	477716	100119154	7230386	775	49953											
AHNAK2	113146	broad.mit.edu	37	chr14	105418203	105418203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggaggggagactcacgtcGgcctccactttgggtgcaga	15	10	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:105418203G>A	uc010axc.1	-	7	3705	c.3585C>T	c.(3583-3585)GCC>GCT	p.A1195A	AHNAK2_uc001ypx.2_Silent_p.A1095A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1195						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)			GACTCACGTCGGCCTCCACTT	0.622													A	105418203	G	A	105418203	2	1	73	1	0	0	0	0	0	0	0	1	415	1103	39	1		1	AHNAK2	14	105418203	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	5299049	105418203	1931337	776	49954											
MAGEL2	54551	broad.mit.edu	37	chr15	23890708	23890708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctttagaggagcccctgcGgtctatagaagaggccctgc	12	12	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:23890708G>A	uc001ywj.3	-	1	468	c.373C>T	c.(373-375)CGC>TGC	p.R125C		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GAGCCCCTGCGGTCTATAGAA	0.597													A	23890708	G	A	23890708	3	1	73	1	0	0	0	0	1	0	0	0	9189	1116	39	1	1571	1	MAGEL2	15	23890708	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08		23890708	78640684	777	49955											
OCA2	4948	broad.mit.edu	37	chr15	28273201	28273201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtaaacaggtatgcaccGtgacctggaaagcaagagag	13	7	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:28273201G>A	uc001zbh.3	-	4	441	c.331C>T	c.(331-333)CGG>TGG	p.R111W	OCA2_uc010ayv.2_Missense_Mutation_p.R111W	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	111	Cytoplasmic (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGTATGCACCGTGACCTGGAA	0.488									Oculocutaneous_Albinism				A	28273201	G	A	28273201	3	1	73	1	0	0	0	0	1	0	0	0	10815	1144	40	1	2269	1	OCA2	15	28273201	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	4382493	28273201	74258191	778	49956											
OTUD7A	161725	broad.mit.edu	37	chr15	31822980	31822980	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaagaagccgtttacagctCgtgcacacagtggaccacca	11	12	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:31822980C>T	uc001zfq.2	-	4	675	c.582G>A	c.(580-582)ACG>ACA	p.T194T	OTUD7A_uc001zfr.2_Silent_p.T194T	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	194	Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GTTTACAGCTCGTGCACACAG	0.547													T	31822980	C	T	31822980	2	4	73	1	0	0	0	0	0	0	0	1	11318	871	31	1		1	OTUD7A	15	31822980	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3549779	31822980	70708412	779	49957											
OTUD7A	161725	broad.mit.edu	37	chr15	31823008	31823008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtggaccaccagttcaggCgacctggaaaagaagctcac	11	12	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:31823008C>T	uc001zfq.2	-	4	647	c.554G>A	c.(553-555)CGC>CAC	p.R185H	OTUD7A_uc001zfr.2_Missense_Mutation_p.R185H	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	185	Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CCAGTTCAGGCGACCTGGAAA	0.517													T	31823008	C	T	31823008	3	4	73	1	0	0	0	0	1	0	0	0	11318	768	27	1	2258	1	OTUD7A	15	31823008	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	28	31823008	70708384	780	49958											
GJD2	57369	broad.mit.edu	37	chr15	35044979	35044979	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaaccctgggacactaaaGccatagagaaaatattggcc	8	10	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:35044979G>A	uc001zis.1	-	2	666	c.666C>T	c.(664-666)GGC>GGT	p.G222G	uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	222	Extracellular (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GGACACTAAAGCCATAGAGAA	0.488													A	35044979	G	A	35044979	2	1	73	1	0	0	0	0	0	0	0	1	6417	958	34	2		2	GJD2	15	35044979	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	3221971	35044979	67486413	781	49959											
SPRED1	161742	broad.mit.edu	37	chr15	38643327	38643327	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agactacagacatcctgacaTgtggaaaaatgacttggaaa	9	7	0	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:38643327T>C	uc001zka.3	+	7	1132	c.797T>C	c.(796-798)ATG>ACG	p.M266T		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	266	KBD.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CATCCTGACATGTGGAAAAAT	0.393									Legius_syndrome				C	38643327	T	C	38643327	3	2	73	1	0	0	0	0	1	0	0	0	15091	1464	51	3	823	3	SPRED1	15	38643327	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	3598348	38643327	63888065	782	49960											
BUB1B	701	broad.mit.edu	37	chr15	40468681	40468681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacacttctgttacaggggCgtttatgcaatgagcctttg	10	8	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:40468681C>T	uc001zkx.3	+	5	600	c.388C>T	c.(388-390)CGT>TGT	p.R130C	BUB1B_uc010ucl.1_5'UTR	NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	130	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|kidney(1)	4		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GTTACAGGGGCGTTTATGCAA	0.398			Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome				T	40468681	C	T	40468681	3	4	73	1	0	0	0	0	1	0	0	0	1571	768	27	1	406	1	BUB1B	15	40468681	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1825354	40468681	62062711	783	49961											
IVD	3712	broad.mit.edu	37	chr15	40703479	40703479	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgatcagtggtgagtacatCggagccctggccatgagtga	14	9	1	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:40703479C>T	uc001zls.3	+	5	820	c.486C>T	c.(484-486)ATC>ATT	p.I162I	IVD_uc001zlq.2_Silent_p.I132I	NM_002225	NP_002216	P26440	IVD_HUMAN	isovaleryl Coenzyme A dehydrogenase isoform 1	159					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			ovary(1)	1		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		GTGAGTACATCGGAGCCCTGG	0.532													T	40703479	C	T	40703479	2	4	73	1	0	0	0	0	0	0	0	1	7928	874	31	1		1	IVD	15	40703479	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	234798	40703479	61827913	784	49962											
MGA	23269	broad.mit.edu	37	chr15	42032360	42032360	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactgcaacaaatcgccctgGgaagaatctgaaggcgtttg	11	10	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:42032360G>T	uc010ucy.1	+	14	4725	c.4544G>T	c.(4543-4545)GGG>GTG	p.G1515V	MGA_uc010ucz.1_Missense_Mutation_p.G1515V|MGA_uc010uda.1_Missense_Mutation_p.G131V	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	1515						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AATCGCCCTGGGAAGAATCTG	0.512													T	42032360	G	T	42032360	3	4	73	1	0	0	0	0	1	0	0	0	9540	1232	43	5	4594	5	MGA	15	42032360	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1328881	42032360	60499032	785	49963											
SPTBN5	51332	broad.mit.edu	37	chr15	42167792	42167792	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtatgtcctcctggccacagGgcctcctactcaacagctct	8	16	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:42167792G>T	uc001zos.2	-	22	4379	c.4046C>A	c.(4045-4047)CCC>CAC	p.P1349H		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1384	Spectrin 10.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTGGCCACAGGGCCTCCTACT	0.597													T	42167792	G	T	42167792	3	4	73	1	0	0	0	0	1	0	0	0	15121	1232	43	5	7061	5	SPTBN5	15	42167792	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	135432	42167792	60363600	786	49964											
PARP16	54956	broad.mit.edu	37	chr15	65578609	65578610	+	Frame_Shift_Del	DEL	AC	AC	-													accagggcttcaaagtccttAcagtcgccgcgggcgtagga							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:65578609_65578610delAC	uc002aoo.2	-	1	409_410	c.155_156delGT	c.(154-156)TGTfs	p.C52fs	PARP16_uc002aop.2_Frame_Shift_Del_p.C52fs|PARP16_uc002aoq.2_Frame_Shift_Del_p.C52fs	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	52						integral to membrane	NAD+ ADP-ribosyltransferase activity			lung(2)	2						CAAAGTCCTTACAGTCGCCGCG	0.663													-	65578610	AC	-	65578609	7	5	73	1	0	1	0	1	0	0	0	0	11460	389	14	0	839	0	PARP16	15	65578609	Frame_Shift_Del	DEL	AC	TCGA-BR-8360-01A-11D-2340-08	23410817	65578609	36952783	787	49965											
MYO9A	4649	broad.mit.edu	37	chr15	72146864	72146864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcggtcttcactggtcaaaCgggacagttcaaccccaaat	8	12	4	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:72146864C>T	uc002atl.3	-	35	6673	c.6200G>A	c.(6199-6201)CGT>CAT	p.R2067H	MYO9A_uc002atj.2_5'UTR|MYO9A_uc002atk.2_Missense_Mutation_p.R862H	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	2067	Tail.|Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						ACTGGTCAAACGGGACAGTTC	0.368													T	72146864	C	T	72146864	3	4	73	1	0	0	0	0	1	0	0	0	10084	536	19	1	1478	1	MYO9A	15	72146864	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	6568255	72146864	30384528	788	49966											
PML	5371	broad.mit.edu	37	chr15	74325013	74325013	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgcccggggcacaccccgTgccagtgtacgccttctcca	11	17	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:74325013T>C	uc002awv.2	+	5	1495	c.1355T>C	c.(1354-1356)GTG>GCG	p.V452A	PML_uc002awm.2_Missense_Mutation_p.V452A|PML_uc002awl.2_Intron|PML_uc002awj.1_Intron|PML_uc002awk.2_Missense_Mutation_p.V452A|PML_uc002awn.2_Missense_Mutation_p.V452A|PML_uc002awo.2_Intron|PML_uc002awp.2_Intron|PML_uc002awq.2_Missense_Mutation_p.V452A|PML_uc002awr.2_Missense_Mutation_p.V452A|PML_uc002aws.2_Intron|PML_uc002awt.2_Intron|PML_uc002awu.2_Intron|PML_uc010ule.1_Missense_Mutation_p.V13A|PML_uc002awx.2_Intron|PML_uc002awy.2_Intron	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	452					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						GCACACCCCGTGCCAGTGTAC	0.627			T	RARA|PAX5	APL|ALL								C	74325013	T	C	74325013	3	2	73	1	0	0	0	0	1	0	0	0	12135	1696	59	3	1373	3	PML	15	74325013	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	2178149	74325013	28206379	789	49967											
ADAMTS7	11173	broad.mit.edu	37	chr15	79059752	79059752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccacagcccaggtggccGgacagggtacatggcggttg	15	13	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:79059752G>A	uc002bej.3	-	18	3039	c.2828C>T	c.(2827-2829)CCG>CTG	p.P943L	ADAMTS7_uc010und.1_Intron	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	943	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						CCAGGTGGCCGGACAGGGTAC	0.657													A	79059752	G	A	79059752	3	1	73	1	0	0	0	0	1	0	0	0	271	1116	39	1	2260	1	ADAMTS7	15	79059752	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	4734739	79059752	23471640	790	49968											
ADAMTS7	11173	broad.mit.edu	37	chr15	79089073	79089073	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacgcctcagccgtggccgCcgccactgctgccgctgctc	12	19	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:79089073C>T	uc002bej.3	-	4	889	c.678G>A	c.(676-678)CGG>CGA	p.R226R	ADAMTS7_uc010und.1_Silent_p.R226R|ADAMTS7_uc002bek.1_Silent_p.R226R	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	226					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						gccgtggccgccgccactgct	0.433													T	79089073	C	T	79089073	2	4	73	1	0	0	0	0	0	0	0	1	271	726	26	2		2	ADAMTS7	15	79089073	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	29321	79089073	23442319	791	49969											
ADAMTS7	11173	broad.mit.edu	37	chr15	79090417	79090417	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcactgtccaggggctcAatgaagtagtcctcgttgga	15	9	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:79090417A>G	uc002bej.3	-	3	706	c.495T>C	c.(493-495)ATT>ATC	p.I165I	ADAMTS7_uc010und.1_Silent_p.I165I|ADAMTS7_uc002bek.1_Silent_p.I165I	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	165					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						CCAGGGGCTCAATGAAGTAGT	0.642													G	79090417	A	G	79090417	2	3	73	1	0	0	0	0	0	0	0	1	271	126	5	3		3	ADAMTS7	15	79090417	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	1344	79090417	23440975	792	49970											
ARNT2	9915	broad.mit.edu	37	chr15	80885987	80885987	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacccaggggactggcaactAtaacatcgaagactttgccg	10	11	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:80885987A>G	uc002bfr.2	+	19	2268	c.2102A>G	c.(2101-2103)TAT>TGT	p.Y701C	ARNT2_uc010unm.1_Missense_Mutation_p.Y690C|ARNT2_uc002bfs.2_Missense_Mutation_p.Y690C	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	701					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			ACTGGCAACTATAACATCGAA	0.567													G	80885987	A	G	80885987	3	3	73	1	0	0	0	0	1	0	0	0	966	449	16	3	2176	3	ARNT2	15	80885987	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	1795570	80885987	21645405	793	49971											
AKAP13	11214	broad.mit.edu	37	chr15	86123175	86123177	+	In_Frame_Del	DEL	GAA	GAA	-													atttagcccttcttgggctgGaagaagatgtaatgccacac							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:86123175_86123177delGAA	uc002blv.1	+	7	2046_2048	c.1876_1878delGAA	c.(1876-1878)GAAdel	p.E627del	AKAP13_uc002blt.1_In_Frame_Del_p.E627del|AKAP13_uc002blu.1_In_Frame_Del_p.E627del|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	627					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						TCTTGGGCTGGAAGAAGATGTAA	0.433													-	86123177	GAA	-	86123175	7	5	73	1	0	1	0	1	0	0	0	0	449	1175	41	0	1898	0	AKAP13	15	86123175	In_Frame_Del	DEL	GAA	TCGA-BR-8360-01A-11D-2340-08	5237188	86123175	16408217	794	49972											
FANCI	55215	broad.mit.edu	37	chr15	89807836	89807836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgaggaacagagtggtgaCgagtgagtaatatagtgtag	15	2	0	4	rs151169233	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:89807836C>T	uc010bnp.1	+	9	843	c.753C>T	c.(751-753)GAC>GAT	p.D251D	FANCI_uc002bnm.1_Silent_p.D251D|FANCI_uc002bnn.1_RNA|FANCI_uc002bno.2_Silent_p.D251D|FANCI_uc002bnp.1_Silent_p.D72D	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	251					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGAGTGGTGACGAGTGAGTAA	0.363								Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				T	89807836	C	T	89807836	2	4	73	1	0	0	0	0	0	0	0	1	5669	535	19	1		1	FANCI	15	89807836	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3684661	89807836	12723556	795	49973											
C15orf58	390637	broad.mit.edu	37	chr15	90785087	90785087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagtaattctgtgggcccGgaagtccagctttgggataa	13	9	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:90785087G>A	uc002bpc.2	+	4	1126	c.947G>A	c.(946-948)CGG>CAG	p.R316Q		NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	hypothetical protein LOC390637	316					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity				0						CTGTGGGCCCGGAAGTCCAGC	0.557													A	90785087	G	A	90785087	3	1	73	1	0	0	0	0	1	0	0	0	1806	1116	39	1	949	1	C15orf58	15	90785087	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	977251	90785087	11746305	796	49974											
IGF1R	3480	broad.mit.edu	37	chr15	99452112	99452112	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacataaacaccaggaacaaCggggagagagcctcctgtga	12	10	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:99452112C>T	uc002bul.2	+	6	1496	c.1446C>T	c.(1444-1446)AAC>AAT	p.N482N	IGF1R_uc010urq.1_Silent_p.N482N|IGF1R_uc010bon.2_Silent_p.N482N|IGF1R_uc010urr.1_5'Flank	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	482					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCAGGAACAACGGGGAGAGAG	0.512													T	99452112	C	T	99452112	2	4	73	1	0	0	0	0	0	0	0	1	7571	535	19	1		1	IGF1R	15	99452112	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	8667025	99452112	3079280	797	49975											
TM2D3	80213	broad.mit.edu	37	chr15	102182749	102182749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcaggacgtctatcagcGtccatattcccaggccaccg	10	14	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:102182749G>A	uc002bxi.2	-	6	707	c.677C>T	c.(676-678)ACG>ATG	p.T226M	TM2D3_uc010usg.1_Intron|TM2D3_uc002bxh.2_Missense_Mutation_p.T161M|TM2D3_uc002bxj.2_Missense_Mutation_p.T200M|TM2D3_uc002bxk.2_Missense_Mutation_p.T161M	NM_078474	NP_510883	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3 isoform a	226	Helical; (Potential).					integral to membrane				ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTCTATCAGCGTCCATATTCC	0.557													A	102182749	G	A	102182749	3	1	73	1	0	0	0	0	1	0	0	0	15962	1145	40	1	70	1	TM2D3	15	102182749	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2730637	102182749	348643	798	49976											
PDIA2	64714	broad.mit.edu	37	chr16	335551	335551	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccgacaatgagcacgtgCtgcagtactttggactcaag	12	11	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:335551C>T	uc002cgn.1	+	12	2075	c.967C>T	c.(967-969)CTG>TTG	p.L323L	PDIA2_uc010bqt.1_Silent_p.L168L|PDIA2_uc002cgo.1_Silent_p.L323L	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	323					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)|skin(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TGAGCACGTGCTGCAGTACTT	0.627													T	335551	C	T	335551	2	4	73	1	0	0	0	0	0	0	0	1	11668	796	28	2		2	PDIA2	16	335551	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08		335551	90019202	799	49977											
RHBDL1	9028	broad.mit.edu	37	chr16	726836	726836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtggaccgccgctggtaCttctaccgtcaccgcagctg	13	14	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:726836C>T	uc002cis.1	+	2	588	c.561C>T	c.(559-561)TAC>TAT	p.Y187Y	RHBDL1_uc002cir.1_Silent_p.Y122Y|RHBDL1_uc010uun.1_Silent_p.Y122Y	NM_003961	NP_003952	O75783	RHBL1_HUMAN	rhomboid protease 1	187					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity				0		Hepatocellular(780;0.0218)				GCCGCTGGTACTTCTACCGTC	0.687													T	726836	C	T	726836	2	4	73	1	0	0	0	0	0	0	0	1	13321	576	20	4		4	RHBDL1	16	726836	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	391285	726836	89627917	800	49978											
WDR24	84219	broad.mit.edu	37	chr16	737628	737628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgaacatcctctcgcacCggtcgggacgccggatgtcc	12	15	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:737628C>T	uc002ciz.1	-	2	1353	c.593G>A	c.(592-594)CGG>CAG	p.R198Q		NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)				CCTCTCGCACCGGTCGGGACG	0.627													T	737628	C	T	737628	3	4	73	1	0	0	0	0	1	0	0	0	17278	652	23	1	1811	1	WDR24	16	737628	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	10792	737628	89617125	801	49979											
CACNA1H	8912	broad.mit.edu	37	chr16	1270310	1270310	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgaagcctctccggtggcCggcggcgagcgggacctgcg	17	16	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:1270310C>T	uc002cks.2	+	35	6626	c.6378C>T	c.(6376-6378)GCC>GCT	p.A2126A	CACNA1H_uc002ckt.2_Silent_p.A2120A|CACNA1H_uc002cku.2_Silent_p.A821A|CACNA1H_uc010brj.2_Silent_p.A837A|CACNA1H_uc002ckv.2_Silent_p.A815A	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	2126	Cytoplasmic (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTCCGGTGGCCGGCGGCGAGC	0.736													T	1270310	C	T	1270310	2	4	73	1	0	0	0	0	0	0	0	1	2545	639	23	1		1	CACNA1H	16	1270310	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	532682	1270310	89084443	802	49980											
CLCN7	1186	broad.mit.edu	37	chr16	1524892	1524892	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtccccccgccgggccgCgccgtcctccgcagcagcgg	15	21	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:1524892C>G	uc002clv.2	-	1	194	c.84G>C	c.(82-84)GCG>GCC	p.A28A	CLCN7_uc002clw.2_Silent_p.A28A	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	28	Cytoplasmic (By similarity).					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)				CGCCGGGCCGCGCCGTCCTCC	0.771													G	1524892	C	G	1524892	2	3	73	1	0	0	0	0	0	0	0	1	3468	755	27	5		5	CLCN7	16	1524892	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	254582	1524892	88829861	803	49981											
PKD1	5310	broad.mit.edu	37	chr16	2140034	2140034	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacaccttgtccccagccgGcccaggctcacgctcagccc	8	21	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:2140034G>A	uc002cos.1	-	46	12815	c.12606C>T	c.(12604-12606)GGC>GGT	p.G4202G	PKD1_uc002cot.1_Silent_p.G4201G	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	4202	Cytoplasmic (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						TCCCCAGCCGGCCCAGGCTCA	0.682													A	2140034	G	A	2140034	2	1	73	1	0	0	0	0	0	0	0	1	11963	1190	42	2		2	PKD1	16	2140034	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	615142	2140034	88214719	804	49982											
CASKIN1	57524	broad.mit.edu	37	chr16	2229836	2229836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccgaggccggtcggcggCgcacggtgccagtgccatta	16	14	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:2229836C>T	uc010bsg.1	-	18	3565	c.3533G>A	c.(3532-3534)CGC>CAC	p.R1178H		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1178	Pro-rich.				signal transduction	cytoplasm				skin(2)	2						CGGTCGGCGGCGCACGGTGCC	0.726													T	2229836	C	T	2229836	3	4	73	1	0	0	0	0	1	0	0	0	2666	768	27	1	774	1	CASKIN1	16	2229836	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	89802	2229836	88124917	805	49983											
MLST8	64223	broad.mit.edu	37	chr16	2256622	2256622	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggccgctggatgtacacGggcggcgaggactgcacagc	17	12	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:2256622G>A	uc002coz.2	+	4	425	c.306G>A	c.(304-306)ACG>ACA	p.T102T	MLST8_uc002coy.2_Silent_p.T102T|MLST8_uc002cpa.2_5'UTR|MLST8_uc002cpb.2_Silent_p.T101T|MLST8_uc010uvx.1_Silent_p.T36T|MLST8_uc002cpc.2_Silent_p.T102T|MLST8_uc002cpd.2_Silent_p.T36T|MLST8_uc002cpe.2_Silent_p.T102T|MLST8_uc010uvy.1_Silent_p.T102T|MLST8_uc002cpg.2_Silent_p.T121T|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Silent_p.T102T	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	G protein beta subunit-like	102	WD 3.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding				0						GGATGTACACGGGCGGCGAGG	0.622													A	2256622	G	A	2256622	2	1	73	1	0	0	0	0	0	0	0	1	9634	1103	39	1		1	MLST8	16	2256622	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	26786	2256622	88098131	806	49984											
E4F1	1877	broad.mit.edu	37	chr16	2282763	2282763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttctctctgcagatgagcGcccctacaagtgctccaagt	10	13	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:2282763G>A	uc002cpm.2	+	6	785	c.737G>A	c.(736-738)CGC>CAC	p.R246H	E4F1_uc010bsi.2_Missense_Mutation_p.R246H|E4F1_uc010bsj.2_Missense_Mutation_p.R246H	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	p120E4F	246	Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GCAGATGAGCGCCCCTACAAG	0.642													A	2282763	G	A	2282763	3	1	73	1	0	0	0	0	1	0	0	0	4874	1087	38	1	759	1	E4F1	16	2282763	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	26141	2282763	88071990	807	49985											
CREBBP	1387	broad.mit.edu	37	chr16	3828749	3828749	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttccactttcttagcataGgctaccaggttttccatgcg	7	13	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:3828749G>T	uc002cvv.2	-	9	2097	c.1893C>A	c.(1891-1893)GCC>GCA	p.A631A	CREBBP_uc002cvw.2_Silent_p.A593A	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	631	KIX.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCTTAGCATAGGCTACCAGGT	0.502			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				T	3828749	G	T	3828749	2	4	73	1	0	0	0	0	0	0	0	1	3861	987	35	5		5	CREBBP	16	3828749	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1545986	3828749	86526004	808	49986											
USP7	7874	broad.mit.edu	37	chr16	8988969	8988969	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccactgtgacaagcatctcAttctctttgtctatgtccac	6	13	3	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:8988969A>G	uc002czl.2	-	28	3157	c.2958T>C	c.(2956-2958)AAT>AAC	p.N986N	USP7_uc010uyk.1_Silent_p.N887N|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Silent_p.N887N|USP7_uc002czk.2_Silent_p.N970N	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	986					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						CAAGCATCTCATTCTCTTTGT	0.493													G	8988969	A	G	8988969	2	3	73	1	0	0	0	0	0	0	0	1	17085	214	8	3		3	USP7	16	8988969	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	5160220	8988969	81365784	809	49987											
C16orf72	29035	broad.mit.edu	37	chr16	9210617	9210617	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcgaatgctagtcgaaggAgaaatggactccatgatgtc	12	7	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:9210617A>C	uc002czm.2	+	4	1041	c.676A>C	c.(676-678)AGA>CGA	p.R226R		NM_014117	NP_054836	Q14CZ0	CP072_HUMAN	hypothetical protein LOC29035	226										large_intestine(1)	1						TAGTCGAAGGAGAAATGGACT	0.478													C	9210617	A	C	9210617	2	2	73	1	0	0	0	0	0	0	0	1	1831	296	11	5		5	C16orf72	16	9210617	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	221648	9210617	81144136	810	49988											
RBBP6	5930	broad.mit.edu	37	chr16	24581781	24581781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtcagacgaaaagtgactgGaactgaaggatccagctcaa	12	8	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:24581781G>A	uc002dmh.2	+	17	4810	c.3770G>A	c.(3769-3771)GGA>GAA	p.G1257E	RBBP6_uc010vcb.1_Missense_Mutation_p.G1124E|RBBP6_uc002dmi.2_Missense_Mutation_p.G1223E|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.G1090E	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1257					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		AAAGTGACTGGAACTGAAGGA	0.408													A	24581781	G	A	24581781	3	1	73	1	0	0	0	0	1	0	0	0	13103	1174	41	4	3890	4	RBBP6	16	24581781	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	15371164	24581781	65772972	811	49989											
ATP2A1	487	broad.mit.edu	37	chr16	28909397	28909397	+	Frame_Shift_Del	DEL	C	C	-													gtccatgtctgtctattgctCcccagccaaatcttcccggg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:28909396_28909396TC>T	uc002dro.1	+	12	1679	c.1495_1495TC>T	c.(1495-1497)tccfs	p.S499fs	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Frame_Shift_Del_p.S499fs|ATP2A1_uc002drp.1_Frame_Shift_Del_p.S374fs	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	499					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGTCTATTGCTCCCCAGCCAA	0.537													-	28909397	C	-	28909397	7	5	73	1	0	1	0	1	0	0	0	0	1136	855	30	0	1546	0	ATP2A1	16	28909397	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	4327616	28909397	61445356	812	49990											
CORO1A	11151	broad.mit.edu	37	chr16	30199821	30199821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacgtacccccaaagagccGggagctgagggtcaaccggg	14	13	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:30199821G>A	uc002dww.2	+	10	1327	c.1205G>A	c.(1204-1206)CGG>CAG	p.R402Q	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Missense_Mutation_p.R402Q|CORO1A_uc010bzr.2_Intron|CORO1A_uc002dwx.2_Missense_Mutation_p.R296Q|CORO1A_uc002dwy.1_3'UTR|LOC606724_uc002dwz.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	402					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity				0						CCAAAGAGCCGGGAGCTGAGG	0.701													A	30199821	G	A	30199821	3	1	73	1	0	0	0	0	1	0	0	0	3753	1116	39	1	1239	1	CORO1A	16	30199821	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1290424	30199821	60154932	813	49991											
ZNF689	115509	broad.mit.edu	37	chr16	30616471	30616471	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttgccacactggtcacaaAcataggggcactcgccggag	12	12	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:30616471A>G	uc002dyx.2	-	3	937	c.617T>C	c.(616-618)GTT>GCT	p.V206A	ZNF689_uc010bzy.2_5'UTR	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	zinc finger protein HIT-39	206	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			CTGGTCACAAACATAGGGGCA	0.582													G	30616471	A	G	30616471	3	3	73	1	0	0	0	0	1	0	0	0	18091	43	2	3	889	3	ZNF689	16	30616471	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	416650	30616471	59738282	814	49992											
SETD1A	9739	broad.mit.edu	37	chr16	30991144	30991144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggtggtggtggctgaggCggaggagcccaagccgcagc	20	10	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:30991144C>T	uc002ead.1	+	14	4723	c.4037C>T	c.(4036-4038)GCG>GTG	p.A1346V		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1346	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						GTGGCTGAGGCGGAGGAGCCC	0.532													T	30991144	C	T	30991144	3	4	73	1	0	0	0	0	1	0	0	0	14130	768	27	1	4087	1	SETD1A	16	30991144	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	374673	30991144	59363609	815	49993											
ITGAD	3681	broad.mit.edu	37	chr16	31405644	31405644	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggctttgggcagagcgtggTgcagttcggtggatctcggt	18	8	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:31405644T>C	uc002ebv.1	+	2	168	c.119T>C	c.(118-120)GTG>GCG	p.V40A	ITGAD_uc010vfl.1_Missense_Mutation_p.V40A|ITGAD_uc010cap.1_Missense_Mutation_p.V40A	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	40	Extracellular (Potential).|FG-GAP 1.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						CAGAGCGTGGTGCAGTTCGGT	0.562													C	31405644	T	C	31405644	3	2	73	1	0	0	0	0	1	0	0	0	7884	1696	59	3	125	3	ITGAD	16	31405644	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	414500	31405644	58949109	816	49994											
N4BP1	9683	broad.mit.edu	37	chr16	48595876	48595876	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaacagtttcatctctAgaaatattcagccctgtggc	7	10	3	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:48595876A>G	uc002efp.2	-	2	915	c.678T>C	c.(676-678)TCT>TCC	p.S226S		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Nedd4 binding protein 1	226					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body					0		all_cancers(37;0.179)|all_lung(18;0.11)				TTTCATCTCTAGAAATATTCA	0.408													G	48595876	A	G	48595876	2	3	73	1	0	0	0	0	0	0	0	1	10109	407	15	3		3	N4BP1	16	48595876	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	17190232	48595876	41758877	817	49995											
SALL1	6299	broad.mit.edu	37	chr16	51173150	51173150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtttttaaatttaccccGgtctctaaaagggaagagga	10	6	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:51173150G>A	uc010vgs.1	-	2	3014	c.2983C>T	c.(2983-2985)CGG>TGG	p.R995W	SALL1_uc010vgr.1_Missense_Mutation_p.R898W|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	995					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AATTTACCCCGGTCTCTAAAA	0.433													A	51173150	G	A	51173150	3	1	73	1	0	0	0	0	1	0	0	0	13810	1115	39	1	999	1	SALL1	16	51173150	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2577274	51173150	39181603	818	49996											
RBL2	5934	broad.mit.edu	37	chr16	53524074	53524074	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attaatagtatgatacgcacAggagaaactcctactaaaaa	6	7	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:53524074A>C	uc002ehi.3	+	22	3400	c.3282A>C	c.(3280-3282)ACA>ACC	p.T1094T	RBL2_uc002ehj.2_Silent_p.T804T|RBL2_uc010vgw.1_Silent_p.T473T	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	1094					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						TGATACGCACAGGAGAAACTC	0.348													C	53524074	A	C	53524074	2	2	73	1	0	0	0	0	0	0	0	1	13110	175	7	5		5	RBL2	16	53524074	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	2350924	53524074	36830679	819	49997											
RSPRY1	89970	broad.mit.edu	37	chr16	57269043	57269043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttctactcaggcacaggCgtcttgctctgttgaagcaa	9	10	4	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:57269043C>T	uc002elb.2	+	14	1815	c.1537C>T	c.(1537-1539)CGT>TGT	p.R513C	RSPRY1_uc002elc.2_Missense_Mutation_p.R513C|RSPRY1_uc002eld.2_Missense_Mutation_p.R513C	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	513						extracellular region	zinc ion binding			ovary(1)	1						CAGGCACAGGCGTCTTGCTCT	0.433													T	57269043	C	T	57269043	3	4	73	1	0	0	0	0	1	0	0	0	13713	768	27	1	1587	1	RSPRY1	16	57269043	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3744969	57269043	33085710	820	49998											
GPR97	222487	broad.mit.edu	37	chr16	57719834	57719834	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgcacttttcaactccttGcaaggtgaggcccctgcacc	8	14	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:57719834G>A	uc002emh.2	+	11	1639	c.1536G>A	c.(1534-1536)TTG>TTA	p.L512L	GPR97_uc010vhv.1_Silent_p.L392L|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_Silent_p.L120L	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97 precursor	512	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1						TCAACTCCTTGCAAGGTGAGG	0.592													A	57719834	G	A	57719834	2	1	73	1	0	0	0	0	0	0	0	1	6720	1310	46	2		2	GPR97	16	57719834	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	450791	57719834	32634919	821	49999											
PRSS54	221191	broad.mit.edu	37	chr16	58324946	58324946	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtgtgtactgggagtcCtgcagcgacaccacccacgg	14	12	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:58324946C>A	uc002enf.2	-	4	575	c.180G>T	c.(178-180)CAG>CAT	p.Q60H	PRSS54_uc002eng.2_Missense_Mutation_p.Q60H|PRSS54_uc010vie.1_Intron	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	60	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						ACTGGGAGTCCTGCAGCGACA	0.607													A	58324946	C	A	58324946	3	1	73	1	0	0	0	0	1	0	0	0	12633	680	24	5	1023	5	PRSS54	16	58324946	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	605112	58324946	32029807	822	50000											
SETD6	79918	broad.mit.edu	37	chr16	58549965	58549965	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgggccgcgctcctgtcgCagcacacctgctccatcggc	12	19	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:58549965C>T	uc002ens.2	+	2	357	c.298C>T	c.(298-300)CAG>TAG	p.Q100*	SETD6_uc010cdl.2_Nonsense_Mutation_p.Q100*|SETD6_uc002enr.2_Nonsense_Mutation_p.Q76*|SETD6_uc010cdm.2_RNA|SETD6_uc010vij.1_Nonsense_Mutation_p.Q24*	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN	SET domain containing 6 isoform a	100	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			ovary(1)	1						GCTCCTGTCGCAGCACACCTG	0.612													T	58549965	C	T	58549965	4	4	73	1	0	0	0	0	0	1	0	0	14135	711	25	2	304	2	SETD6	16	58549965	Nonsense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	225019	58549965	31804788	823	50001											
CDH8	1006	broad.mit.edu	37	chr16	61761058	61761058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggatgcgaattcaggggcGttgtcattgacatccagcac	12	10	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:61761058G>A	uc002eog.1	-	9	1728	c.1476C>T	c.(1474-1476)AAC>AAT	p.N492N	CDH8_uc002eoh.2_Silent_p.N261N	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	492	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATTCAGGGGCGTTGTCATTGA	0.393													A	61761058	G	A	61761058	2	1	73	1	0	0	0	0	0	0	0	1	3116	1136	40	1		1	CDH8	16	61761058	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	3211093	61761058	28593695	824	50002											
CDH8	1006	broad.mit.edu	37	chr16	61851566	61851566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggccccctgccactgaagCgtgggtcaatatggacattg	13	11	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:61851566C>T	uc002eog.1	-	7	1346	c.1094G>A	c.(1093-1095)CGC>CAC	p.R365H	CDH8_uc002eoh.2_Missense_Mutation_p.R134H	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	365	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GCCACTGAAGCGTGGGTCAAT	0.468													T	61851566	C	T	61851566	3	4	73	1	0	0	0	0	1	0	0	0	3116	768	27	1	1329	1	CDH8	16	61851566	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	90508	61851566	28503187	825	50003											
CDH16	1014	broad.mit.edu	37	chr16	66947518	66947519	+	Splice_Site	INS	-	-	G													acccccactccagtgtacctINSgggggggacaccccgggcca							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:66947518_66947519insG	uc002eql.2	-	8	854	c.781_splice	c.e8-1	p.V261_splice	CDH16_uc010cdy.2_Splice_Site_p.V261_splice|CDH16_uc002eqm.2_Splice_Site_p.V164_splice	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCAGTGTACCTGGGGGGGACAC	0.594													G	66947519	-	G	66947518	8	5	73	1	0	1	1	0	0	0	1	0	3101	1594	55	0	1754	0	CDH16	16	66947518	Splice_Site	INS	-	TCGA-BR-8360-01A-11D-2340-08	5095952	66947518	23407235	826	50004	195	2									
CDH16	1014	broad.mit.edu	37	chr16	66947519	66947520	+	Splice_Site	INS	-	-	G													cccccactccagtgtacctgINSggggggacaccccgggccaa							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:66947518_66947519T>TG	uc002eql.3	-	8	975	c.781_splice	c.e8-1	p.V261_splice	CDH16_uc010cdy.3_Splice_Site_p.V261_splice|CDH16_uc021tjx.1_Splice_Site_p.V261_splice|CDH16_uc002eqm.3_Splice_Site_p.V164_splice	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	261	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCAGTGTACCTGGGGGGGACAC	0.594													G	66947520	-	G	66947519	8	5	73	1	0	1	1	0	0	0	1	0	3101	1363	47	0		0	CDH16	16	66947519	Splice_Site	INS	-	TCGA-BR-8360-01A-11D-2340-08	1	66947519	23407234	827	50005	195	2									
KIAA0895L	653319	broad.mit.edu	37	chr16	67214240	67214240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccagggtgccacgcccccGccggccagtactatttacag	10	17	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:67214240G>A	uc002ert.2	-	2	1049	c.274C>T	c.(274-276)CGG>TGG	p.R92W	KIAA0895L_uc002err.2_5'Flank|KIAA0895L_uc002ers.2_5'Flank|KIAA0895L_uc002eru.2_Missense_Mutation_p.R92W|EXOC3L_uc002erv.1_RNA	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN	hypothetical protein LOC653319	92											0						CCACGCCCCCGCCGGCCAGTA	0.672													A	67214240	G	A	67214240	3	1	73	1	0	0	0	0	1	0	0	0	8198	1086	38	1	1165	1	KIAA0895L	16	67214240	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	266721	67214240	23140513	828	50006											
PLEKHG4	25894	broad.mit.edu	37	chr16	67321888	67321888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggaagccatcaacgaccGcaccgtcaactatgtcctga	9	14	2	1	rs56077142	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:67321888G>A	uc002eso.3	+	18	5726	c.3191G>A	c.(3190-3192)CGC>CAC	p.R1064H	PLEKHG4_uc002esp.3_Missense_Mutation_p.R871H|PLEKHG4_uc002esq.3_Missense_Mutation_p.R1064H|PLEKHG4_uc010cef.2_Missense_Mutation_p.R1064H|PLEKHG4_uc002ess.3_Missense_Mutation_p.R1064H|PLEKHG4_uc010ceg.2_Missense_Mutation_p.R983H	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	1064					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		ATCAACGACCGCACCGTCAAC	0.602													A	67321888	G	A	67321888	3	1	73	1	0	0	0	0	1	0	0	0	12071	1087	38	1	3261	1	PLEKHG4	16	67321888	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	107648	67321888	23032865	829	50007											
SLC12A4	6560	broad.mit.edu	37	chr16	67984960	67984960	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcggtttgagccagccatgAtgcctccaaaaacagatgag	11	10	0	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:67984960A>G	uc002euz.2	-	10	1442	c.1301T>C	c.(1300-1302)ATC>ACC	p.I434T	SLC12A4_uc010ceu.2_Missense_Mutation_p.I428T|SLC12A4_uc010vkh.1_Missense_Mutation_p.I403T|SLC12A4_uc010vki.1_Missense_Mutation_p.I434T|SLC12A4_uc010vkj.1_Missense_Mutation_p.I436T|SLC12A4_uc002eva.2_Missense_Mutation_p.I434T|SLC12A4_uc002evb.2_Intron	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	434					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCAGCCATGATGCCTCCAAA	0.582													G	67984960	A	G	67984960	3	3	73	1	0	0	0	0	1	0	0	0	14385	333	12	3	2016	3	SLC12A4	16	67984960	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	663072	67984960	22369793	830	50008											
PLA2G15	23659	broad.mit.edu	37	chr16	68289855	68289855	+	Frame_Shift_Del	DEL	G	G	-													cgtgtcactgggtgcgccctGggggggcgtggccaagaccc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:68289854_68289854TG>T	uc002evr.3	+	4	771	c.688_688TG>T	c.(688-690)tggfs	p.W230fs	PLA2G15_uc010vld.2_Frame_Shift_Del_p.L188fs|PLA2G15_uc010vle.2_Frame_Shift_Del_p.W136fs|PLA2G15_uc010vlf.2_Intron|PLA2G15_uc002evs.3_Frame_Shift_Del_p.W51fs	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	Homo sapiens phospholipase A2, group XV (PLA2G15), mRNA.	230					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						GGGTGCGCCCTGGGGGGGCGT	0.632													-	68289855	G	-	68289855	7	5	73	1	0	1	0	1	0	0	0	0	11992	1357	47	0	707	0	PLA2G15	16	68289855	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	304895	68289855	22064898	831	50009											
CDH3	1001	broad.mit.edu	37	chr16	68716319	68716319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctaccttatcatgggcGgtgacgacggggaccatttt	11	12	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:68716319G>A	uc002ewf.2	+	9	2243	c.1111G>A	c.(1111-1113)GGT>AGT	p.G371S	CDH3_uc010vli.1_Missense_Mutation_p.G316S	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	371	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TATCATGGGCGGTGACGACGG	0.602													A	68716319	G	A	68716319	3	1	73	1	0	0	0	0	1	0	0	0	3111	1116	39	1	1145	1	CDH3	16	68716319	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	426464	68716319	21638434	832	50010											
LDHD	197257	broad.mit.edu	37	chr16	75146546	75146546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccctgcccagttcctcggCgtcatcagggttgaccagca	11	15	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:75146546C>T	uc002fdm.2	-	10	1359	c.1312G>A	c.(1312-1314)GCC>ACC	p.A438T	LDHD_uc002fdn.2_Missense_Mutation_p.A415T	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	D-lactate dehydrogenase isoform 1 precursor	438							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding				0						AGTTCCTCGGCGTCATCAGGG	0.612													T	75146546	C	T	75146546	3	4	73	1	0	0	0	0	1	0	0	0	8703	768	27	1	219	1	LDHD	16	75146546	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	6430227	75146546	15208207	833	50011											
KCNG4	93107	broad.mit.edu	37	chr16	84256426	84256426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccgctcggcctctcgccGtcctccgggggctcctcaga	11	20	2	1	rs150509470		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:84256426G>A	uc010voc.1	-	3	1078	c.957C>T	c.(955-957)GAC>GAT	p.D319D		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	319						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						GCCTCTCGCCGTCCTCCGGGG	0.652													A	84256426	G	A	84256426	2	1	73	1	0	0	0	0	0	0	0	1	8030	1136	40	1		1	KCNG4	16	84256426	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	9109880	84256426	6098327	834	50012											
ATP2C2	9914	broad.mit.edu	37	chr16	84472790	84472809	+	Frame_Shift_Del	DEL	TCCAGAGGGTCTGCCCATCG	TCCAGAGGGTCTGCCCATCG	-													agcctggctgtggcggccatTccagagggtctgcccatcgt					rs79209156		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:84472789_84472808TTCCAGAGGGTCTGCCCATCG>T	uc010chj.3	+	11	1093_1112	c.1004_1023TTCCAGAGGGTCTGCCCATCG>T	c.(1003-1023)attccagagggtctgcccatcfs	p.I335fs	ATP2C2_uc002fhx.3_Frame_Shift_Del_p.I335fs|ATP2C2_uc002fhy.3_Frame_Shift_Del_p.I352fs|ATP2C2_uc002fhz.3_Frame_Shift_Del_p.I184fs	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	335					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GTGGCGGCCATTCCAGAGGGTCTGCCCATCGTCGTCATGG	0.564													-	84472809	TCCAGAGGGTCTGCCCATCG	-	84472790	7	5	73	1	0	1	0	1	0	0	0	0	1144	1771	62	0	1051	0	ATP2C2	16	84472790	Frame_Shift_Del	DEL	TCCAGAGGGTCTGCCCATCG	TCGA-BR-8360-01A-11D-2340-08	216364	84472790	5881963	835	50013											
KIAA1609	57707	broad.mit.edu	37	chr16	84514303	84514304	+	Frame_Shift_Ins	INS	-	-	C													gcccaaagtaattgtgctgcINSccccccataccctgcaaagg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:84514302_84514303G>GC	uc002fib.3	-	6	1196_1197	c.1089_1090C>GC	c.(1087-1092)gggcagfs	p.G363fs	KIAA1609_uc010vod.2_Frame_Shift_Ins_p.G336fs	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	Homo sapiens KIAA1609 (KIAA1609), mRNA.	363	TLD.						protein binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(2)	18						TAATTGTGCTGCCCCCCCATAC	0.55													C	84514304	-	C	84514303	7	5	73	1	0	1	1	0	0	0	0	0	8247	726	26	0	289	0	KIAA1609	16	84514303	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	41513	84514303	5840450	836	50014											
COTL1	23406	broad.mit.edu	37	chr16	84600458	84600458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggggctggggttactccGtctgggcgtcgtaattggct	18	9	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:84600458G>A	uc002fid.2	-	4	571	c.422C>T	c.(421-423)ACG>ATG	p.T141M	COTL1_uc002fie.2_3'UTR|COTL1_uc010chk.2_RNA|COTL1_uc002fif.1_RNA	NM_021149	NP_066972	Q14019	COTL1_HUMAN	coactosin-like 1	141						cytoplasm|cytoskeleton	actin binding|enzyme binding			skin(1)	1						GGGTTACTCCGTCTGGGCGTC	0.612													A	84600458	G	A	84600458	3	1	73	1	0	0	0	0	1	0	0	0	3761	1145	40	1	10	1	COTL1	16	84600458	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	86155	84600458	5754295	837	50015											
KIAA0513	9764	broad.mit.edu	37	chr16	85111120	85111120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgcaaacagctggctggccGaaaagaaggacatcgccgag	13	12	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:85111120G>A	uc002fiu.2	+	6	884	c.664G>A	c.(664-666)GAA>AAA	p.E222K	KIAA0513_uc002fis.3_Missense_Mutation_p.E222K|KIAA0513_uc010voj.1_Missense_Mutation_p.E222K|KIAA0513_uc002fit.2_Missense_Mutation_p.E222K	NM_014732	NP_055547	O60268	K0513_HUMAN	hypothetical protein LOC9764	222						cytoplasm				breast(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.234)		CTGGCTGGCCGAAAAGAAGGA	0.617													A	85111120	G	A	85111120	3	1	73	1	0	0	0	0	1	0	0	0	8181	1059	37	1	682	1	KIAA0513	16	85111120	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	510662	85111120	5243633	838	50016											
FOXL1	2300	broad.mit.edu	37	chr16	86612522	86612522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccatggcgatccaggacGcgcccgagcagagggtcacg	15	14	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:86612522G>A	uc002fjr.2	+	1	408	c.193G>A	c.(193-195)GCG>ACG	p.A65T		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	forkhead box L1	65	Fork-head.				brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1						GATCCAGGACGCGCCCGAGCA	0.662													A	86612522	G	A	86612522	3	1	73	1	0	0	0	0	1	0	0	0	6016	1087	38	1	195	1	FOXL1	16	86612522	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1501402	86612522	3742231	839	50017											
KLHDC4	54758	broad.mit.edu	37	chr16	87742975	87742975	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgccggcctcaaacatgcccCcatagacgtagagcacccca	8	18	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:87742975C>G	uc002fki.2	-	10	1389	c.1343G>C	c.(1342-1344)GGG>GCG	p.G448A	KLHDC4_uc002fkh.1_RNA|KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Missense_Mutation_p.G417A|KLHDC4_uc002fkk.2_Missense_Mutation_p.G267A|KLHDC4_uc002fkl.2_Missense_Mutation_p.G391A|KLHDC4_uc010chu.1_Missense_Mutation_p.G267A	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	448	Kelch 6.									pancreas(2)	2				BRCA - Breast invasive adenocarcinoma(80;0.0283)		AAACATGCCCCCATAGACGTA	0.657													G	87742975	C	G	87742975	3	3	73	1	0	0	0	0	1	0	0	0	8358	623	22	5	227	5	KLHDC4	16	87742975	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1130453	87742975	2611778	840	50018											
SPATA2L	124044	broad.mit.edu	37	chr16	89764374	89764374	+	Frame_Shift_Del	DEL	G	G	-													gtaagcagcaggggagcctcGggggggcaggggtggcggct							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:89764373_89764373CG>C	uc002foj.3	-	2	731	c.644_644CG>G	c.(643-645)cgafs	p.R215fs	SPATA2L_uc002fok.3_Intron	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	Homo sapiens spermatogenesis associated 2-like (SPATA2L), mRNA.	215										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGGGGAGCCTCGGGGGGGCAG	0.701													-	89764374	G	-	89764374	7	5	73	1	0	1	0	1	0	0	0	0	15008	1124	39	0	635	0	SPATA2L	16	89764374	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	2021399	89764374	590379	841	50019											
VPS53	55275	broad.mit.edu	37	chr17	465886	465886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtagacaaagaggtcggcGcagctggggagcacggcacc	16	10	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:465886G>A	uc002frn.2	-	14	1560	c.1413C>T	c.(1411-1413)TGC>TGT	p.C471C	VPS53_uc002frk.2_5'UTR|VPS53_uc010cjo.1_Silent_p.C471C|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Silent_p.C442C|VPS53_uc002fro.2_Silent_p.C273C|VPS53_uc010cjp.1_Silent_p.C194C	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 isoform 2	471					protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		AGAGGTCGGCGCAGCTGGGGA	0.562													A	465886	G	A	465886	2	1	73	1	0	0	0	0	0	0	0	1	17212	1079	38	1		1	VPS53	17	465886	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08		465886	80729324	842	50020											
ABR	29	broad.mit.edu	37	chr17	959308	959308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatcccttggcagagtggaCgatgacatgaaggaagccat	12	8	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:959308C>T	uc002fsd.2	-	14	1638	c.1528G>A	c.(1528-1530)GTC>ATC	p.V510I	ABR_uc002fse.2_Missense_Mutation_p.V464I|ABR_uc010vqg.1_Missense_Mutation_p.V292I|ABR_uc002fsg.2_Missense_Mutation_p.V473I|ABR_uc002fsh.1_Intron	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	510	C2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GCAGAGTGGACGATGACATGA	0.577											OREG0024067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	959308	C	T	959308	3	4	73	1	0	0	0	0	1	0	0	0	99	536	19	1	1091	1	ABR	17	959308	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	493422	959308	80235902	843	50021											
ABR	29	broad.mit.edu	37	chr17	973307	973307	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgacacttccaccaggaaGccgtccttcaccagctgtcg	8	16	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:973307G>A	uc002fsd.2	-	9	1028	c.918C>T	c.(916-918)GGC>GGT	p.G306G	ABR_uc002fse.2_Silent_p.G260G|ABR_uc010vqg.1_Silent_p.G88G|ABR_uc002fsg.2_Silent_p.G269G|ABR_uc002fsh.1_Silent_p.G190G	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	306	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CCACCAGGAAGCCGTCCTTCA	0.627													A	973307	G	A	973307	2	1	73	1	0	0	0	0	0	0	0	1	99	958	34	2		2	ABR	17	973307	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	13999	973307	80221903	844	50022											
PRPF8	10594	broad.mit.edu	37	chr17	1582418	1582418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcatgttgtagccctggcGgcaaacctggagcccaacct	12	13	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:1582418G>A	uc002fte.2	-	11	1606	c.1492C>T	c.(1492-1494)CGC>TGC	p.R498C		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	498						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TAGCCCTGGCGGCAAACCTGG	0.512													A	1582418	G	A	1582418	3	1	73	1	0	0	0	0	1	0	0	0	12575	1116	39	1	5647	1	PRPF8	17	1582418	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	609111	1582418	79612792	845	50023											
PRPF8	10594	broad.mit.edu	37	chr17	1585245	1585245	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcagcatagtccaagggCggctcctcatcatcaaaagg	10	11	4	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:1585245C>T	uc002fte.2	-	5	636	c.522G>A	c.(520-522)CCG>CCA	p.P174P		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	174						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGTCCAAGGGCGGCTCCTCAT	0.517													T	1585245	C	T	1585245	2	4	73	1	0	0	0	0	0	0	0	1	12575	755	27	1		1	PRPF8	17	1585245	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2827	1585245	79609965	846	50024											
KIAA0664	23277	broad.mit.edu	37	chr17	2601322	2601322	+	Frame_Shift_Del	DEL	G	G	-													cgggcaggaagttgaggtccGgggggaaggtgcgcagcagg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:2601322delG	uc002fuy.1	-	10	1801	c.1715delC	c.(1714-1716)CCGfs	p.P572fs	KIAA0664_uc002fux.1_Frame_Shift_Del_p.P504fs|KIAA0664_uc010ckc.1_5'Flank	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	572							binding			breast(2)	2						GTTGAGGTCCGGGGGGAAGGT	0.692													-	2601322	G	-	2601322	7	5	73	1	0	1	0	1	0	0	0	0	8189	1116	39	0	2282	0	KIAA0664	17	2601322	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	1016077	2601322	78593888	847	50025											
OR3A1	4994	broad.mit.edu	37	chr17	3195643	3195643	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacattgatggaacagtgacGctgatgcacccaacatccag	9	11	0	3	rs144484709		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:3195643G>A	uc002fvh.1	-	1	234	c.234C>T	c.(232-234)AGC>AGT	p.S78S		NM_002550	NP_002541	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A,	78	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|central_nervous_system(1)	3						GAACAGTGACGCTGATGCACC	0.557													A	3195643	G	A	3195643	2	1	73	1	0	0	0	0	0	0	0	1	11037	1078	38	1		1	OR3A1	17	3195643	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	594321	3195643	77999567	848	50026											
ITGAE	3682	broad.mit.edu	37	chr17	3655036	3655036	+	Frame_Shift_Del	DEL	G	G	-													atctgccccaaaaccttccaGgggggccccgatggccacat							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:3655035_3655035AG>A	uc002fwo.4	-	14	1901	c.1802_1802CT>T	c.(1801-1803)ctgfs	p.L601fs		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	601					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AAAACCTTCCAGGGGGGCCCC	0.612													-	3655036	G	-	3655036	7	5	73	1	0	1	0	1	0	0	0	0	7885	991	35	0	1806	0	ITGAE	17	3655036	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	459393	3655036	77540174	849	50027											
SMTNL2	342527	broad.mit.edu	37	chr17	4510711	4510711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacatgatggtgatgggcCgcaagccggaccccatgtgt	15	10	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:4510711C>T	uc002fyf.1	+	8	1382	c.1315C>T	c.(1315-1317)CGC>TGC	p.R439C	SMTNL2_uc002fye.2_Missense_Mutation_p.R295C	NM_001114974	NP_001108446	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2 isoform 1	439	CH.										0				READ - Rectum adenocarcinoma(115;0.0325)		GGTGATGGGCCGCAAGCCGGA	0.582													T	4510711	C	T	4510711	3	4	73	1	0	0	0	0	1	0	0	0	14816	652	23	1	1345	1	SMTNL2	17	4510711	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	855675	4510711	76684499	850	50028											
USP6	9098	broad.mit.edu	37	chr17	5041527	5041527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcatcttagggcctctaCgaagaaactaacaaggaagc	9	10	2	1	rs139849858	by1000genomes	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:5041527C>T	uc002gau.1	+	21	3267	c.1037C>T	c.(1036-1038)ACG>ATG	p.T346M	USP6_uc002gav.1_Missense_Mutation_p.T346M|USP6_uc010ckz.1_Translation_Start_Site|uc002gbd.2_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	346					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						AGGGCCTCTACGAAGAAACTA	0.582			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								T	5041527	C	T	5041527	3	4	73	1	0	0	0	0	1	0	0	0	17083	536	19	1	1083	1	USP6	17	5041527	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	530816	5041527	76153683	851	50029											
NLGN2	57555	broad.mit.edu	37	chr17	7317671	7317671	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctccccacacagatatccgtGaccctgggaagaagcctgtg	10	14	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:7317671G>A	uc002ggt.1	+	3	590	c.517G>A	c.(517-519)GAC>AAC	p.D173N		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2 precursor	173	Extracellular (Potential).				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)	1		Prostate(122;0.157)				AGATATCCGTGACCCTGGGAA	0.622													A	7317671	G	A	7317671	3	1	73	1	0	0	0	0	1	0	0	0	10462	1290	45	4	527	4	NLGN2	17	7317671	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2276144	7317671	73877539	852	50030											
TP53	7157	broad.mit.edu	37	chr17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggcctcattcagctctcGgaacatctcgaagcgctcac	8	15	5	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:7574003G>A	uc002gim.2	-	10	1218	c.1024C>T	c.(1024-1026)CGA>TGA	p.R342*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.R210*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.R342*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	342	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2.		R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> L (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R342*(49)|p.0?(7)|p.R342fs*3(5)|p.R342P(3)|p.R342Q(2)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCAGCTCTCGGAACATCTCG	0.498		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7574003	G	A	7574003	4	1	73	1	0	0	0	0	0	1	0	0	16378	1124	39	1	165	1	TP53	17	7574003	Nonsense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	256332	7574003	73621207	853	50031											
TP53	7157	broad.mit.edu	37	chr17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcggaacatctcgaagcGctcacgcccacggatctgca	9	16	4	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:7574018G>A	uc002gim.2	-	10	1203	c.1009C>T	c.(1009-1011)CGC>TGC	p.R337C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.R205C|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.R337C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	337	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R337C(12)|p.0?(7)|p.R337L(5)|p.R337H(2)|p.?(1)|p.I332fs*5(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATCTCGAAGCGCTCACGCCCA	0.448		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7574018	G	A	7574018	3	1	73	1	0	0	0	0	1	0	0	0	16378	1087	38	1	180	1	TP53	17	7574018	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	15	7574018	73621192	854	50032											
DNAH2	146754	broad.mit.edu	37	chr17	7661896	7661896	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taagaagatccacccgggacTcaagaaactgcactgggcct	10	12	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:7661896T>A	uc002giu.1	+	13	2149	c.2135T>A	c.(2134-2136)CTC>CAC	p.L712H		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	712	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CACCCGGGACTCAAGAAACTG	0.542													A	7661896	T	A	7661896	3	1	73	1	0	0	0	0	1	0	0	0	4602	1551	54	5	2185	5	DNAH2	17	7661896	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	87878	7661896	73533314	855	50033											
DNAH2	146754	broad.mit.edu	37	chr17	7736238	7736238	+	Frame_Shift_Del	DEL	C	C	-													atgacagcaacctagtgtatCcccccaaggtgggagccagt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:7736237_7736237TC>T	uc002giu.1	+	82	12983	c.12969_12969TC>T	c.(12967-12969)tatfs	p.Y4323fs		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	4323					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACCTAGTGTATCCCCCCAAGG	0.542													-	7736238	C	-	7736238	7	5	73	1	0	1	0	1	0	0	0	0	4602	855	30	0	13300	0	DNAH2	17	7736238	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	74342	7736238	73458972	856	50034											
NTN1	9423	broad.mit.edu	37	chr17	8926196	8926196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtccatggactacgggcGcacgtgggtgcccttccagt	13	13	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:8926196G>A	uc002glw.3	+	2	613	c.506G>A	c.(505-507)CGC>CAC	p.R169H		NM_004822	NP_004813	O95631	NET1_HUMAN	netrin 1 precursor	169	Laminin N-terminal.				apoptosis|axon guidance		protein binding				0						GACTACGGGCGCACGTGGGTG	0.632													A	8926196	G	A	8926196	3	1	73	1	0	0	0	0	1	0	0	0	10700	1087	38	1	508	1	NTN1	17	8926196	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1189958	8926196	72269014	857	50035											
GLP2R	9340	broad.mit.edu	37	chr17	9792953	9792953	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccggggcagcagcctgtcCgagtgcagtgagggggatgt	18	11	0	1	rs151332857		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:9792953C>T	uc002gmd.1	+	13	1593	c.1593C>T	c.(1591-1593)TCC>TCT	p.S531S		NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	531	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				lung(2)|ovary(1)	3					Glucagon recombinant(DB00040)	GCAGCCTGTCCGAGTGCAGTG	0.637													T	9792953	C	T	9792953	2	4	73	1	0	0	0	0	0	0	0	1	6453	639	23	1		1	GLP2R	17	9792953	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	866757	9792953	71402257	858	50036											
MYH13	8735	broad.mit.edu	37	chr17	10214522	10214522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccagtttctgcaatctgCtcagttaagtcggaaatctc	8	10	4	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:10214522C>T	uc002gmk.1	-	33	4644	c.4554G>A	c.(4552-4554)GAG>GAA	p.E1518E		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1518	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						CTGCAATCTGCTCAGTTAAGT	0.463													T	10214522	C	T	10214522	2	4	73	1	0	0	0	0	0	0	0	1	10032	796	28	2		2	MYH13	17	10214522	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	421569	10214522	70980688	859	50037											
MYH13	8735	broad.mit.edu	37	chr17	10222453	10222453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaatcttggctctgagcGtgtgttccgcttcaatttcc	8	12	4	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:10222453G>A	uc002gmk.1	-	27	3482	c.3392C>T	c.(3391-3393)ACG>ATG	p.T1131M		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1131	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GGCTCTGAGCGTGTGTTCCGC	0.557													A	10222453	G	A	10222453	3	1	73	1	0	0	0	0	1	0	0	0	10032	1145	40	1	2484	1	MYH13	17	10222453	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	7931	10222453	70972757	860	50038											
MYOCD	93649	broad.mit.edu	37	chr17	12656201	12656201	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgatcaatgaactcacCtggaaactccagcaagagca	9	10	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:12656201C>T	uc002gnn.2	+	10	1895	c.1596C>T	c.(1594-1596)ACC>ACT	p.T532T	MYOCD_uc002gno.2_Silent_p.T532T|MYOCD_uc002gnp.1_Silent_p.T436T|MYOCD_uc002gnq.2_Silent_p.T251T	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	532	Potential.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ATGAACTCACCTGGAAACTCC	0.537													T	12656201	C	T	12656201	2	4	73	1	0	0	0	0	0	0	0	1	10087	668	24	4		4	MYOCD	17	12656201	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2433748	12656201	68539009	861	50039											
ELAC2	60528	broad.mit.edu	37	chr17	12896212	12896212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctccccatcctccaggcCgcctgccagctccctggaca	9	20	0	0	rs147779718		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:12896212C>T	uc002gnz.3	-	24	2499	c.2404G>A	c.(2404-2406)GGC>AGC	p.G802S	ELAC2_uc002gnu.3_Missense_Mutation_p.G199S|ELAC2_uc002gnv.3_Missense_Mutation_p.G430S|ELAC2_uc002gnw.3_Missense_Mutation_p.G458S|ELAC2_uc002gnx.3_Missense_Mutation_p.G562S|ELAC2_uc010vvo.1_Missense_Mutation_p.G600S|ELAC2_uc010vvp.1_Missense_Mutation_p.G783S|ELAC2_uc010vvq.1_Missense_Mutation_p.G801S|ELAC2_uc010vvr.1_Missense_Mutation_p.G762S	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	elaC homolog 2 isoform 1	802					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding				0						TCCTCCAGGCCGCCTGCCAGC	0.662									Hereditary_Prostate_Cancer				T	12896212	C	T	12896212	3	4	73	1	0	0	0	0	1	0	0	0	5047	652	23	1	80	1	ELAC2	17	12896212	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	240011	12896212	68298998	862	50040											
MPRIP	23164	broad.mit.edu	37	chr17	17030057	17030057	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatcaacatgaaccagtgCacagatgtggtggatgggga	13	8	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:17030057C>T	uc002gqu.1	+	4	365	c.309C>T	c.(307-309)TGC>TGT	p.C103C	MPRIP_uc002gqv.1_Silent_p.C103C	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	103	Interaction with F-actin (By similarity).|PH 1.					cytoplasm|cytoskeleton	actin binding				0						TGAACCAGTGCACAGATGTGG	0.597													T	17030057	C	T	17030057	2	4	73	1	0	0	0	0	0	0	0	1	9743	718	25	2		2	MPRIP	17	17030057	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	4133845	17030057	64165153	863	50041											
MPRIP	23164	broad.mit.edu	37	chr17	17062029	17062029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggagcgggagcgtgcaCggaggcgggaggagcgccgc	22	10	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:17062029C>T	uc002gqu.1	+	14	1815	c.1759C>T	c.(1759-1761)CGG>TGG	p.R587W	MPRIP_uc002gqv.1_Missense_Mutation_p.R587W|MPRIP_uc002gqw.1_Missense_Mutation_p.R342W	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	587	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding				0						GGAGCGTGCACGGAGGCGGGA	0.746													T	17062029	C	T	17062029	3	4	73	1	0	0	0	0	1	0	0	0	9743	527	19	1	1813	1	MPRIP	17	17062029	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	31972	17062029	64133181	864	50042											
TMEM11	8834	broad.mit.edu	37	chr17	21101952	21101952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagaggcaggcggtgccCgccagcacggccgtcttgtg	17	12	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:21101952C>T	uc002gyp.2	-	2	707	c.264G>A	c.(262-264)GCG>GCA	p.A88A	TMEM11_uc002gyq.2_3'UTR	NM_003876	NP_003867	P17152	TMM11_HUMAN	transmembrane protein 11	88	Helical; (Potential).				mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding				0						AGGCGGTGCCCGCCAGCACGG	0.622													T	21101952	C	T	21101952	2	4	73	1	0	0	0	0	0	0	0	1	16023	639	23	1		1	TMEM11	17	21101952	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	4039923	21101952	60093258	865	50043											
NLK	51701	broad.mit.edu	37	chr17	26449740	26449740	+	Frame_Shift_Del	DEL	T	T	-													cgggaattgaagatgttgtgTttttttaagcatgataatgt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:26449739_26449739GT>G	uc010crj.3	+	1	781	c.569_569GT>G	c.(568-570)tgtfs	p.C190fs		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	190	Protein kinase.				Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AAGATGTTGTGTTTTTTTAAG	0.388													-	26449740	T	-	26449740	7	5	73	1	0	1	0	1	0	0	0	0	10466	1731	60	0	576	0	NLK	17	26449740	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	5347788	26449740	54745470	866	50044											
SEZ6	124925	broad.mit.edu	37	chr17	27284223	27284224	+	Frame_Shift_Ins	INS	-	-	G													gacttcgggcaccattctcaINSggggcactgagaccatggca							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:27284223_27284224insG	uc002hdp.2	-	13	2725_2726	c.2531_2532insC	c.(2530-2532)CCTfs	p.P844fs	SEZ6_uc010crx.1_Frame_Shift_Ins_p.P39fs|SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Frame_Shift_Ins_p.P844fs|SEZ6_uc002hdq.1_Frame_Shift_Ins_p.P719fs	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	seizure related 6 homolog isoform 1	844	Extracellular (Potential).|Sushi 5.					integral to membrane|plasma membrane				large_intestine(1)|central_nervous_system(1)	2	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CACCATTCTCAGGGGCACTGAG	0.589													G	27284224	-	G	27284223	7	5	73	1	0	1	1	0	0	0	0	0	14142	175	7	0	485	0	SEZ6	17	27284223	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	834483	27284223	53910987	867	50045	196	2									
SEZ6	124925	broad.mit.edu	37	chr17	27284224	27284225	+	Frame_Shift_Ins	INS	-	-	G													acttcgggcaccattctcagINSgggcactgagaccatggcat							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:27284223_27284224A>AG	uc002hdp.2	-	12	2725_2726	c.2531_2532T>CT	c.(2530-2532)cctfs	p.P844fs	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Frame_Shift_Ins_p.P844fs|SEZ6_uc002hdq.1_Frame_Shift_Ins_p.P719fs	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	844	Sushi 5.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CACCATTCTCAGGGGCACTGAG	0.589													G	27284225	-	G	27284224	7	5	73	1	0	1	1	0	0	0	0	0	14142	1000	35	0	486	0	SEZ6	17	27284224	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	1	27284224	53910986	868	50046	196	2									
TAOK1	57551	broad.mit.edu	37	chr17	27857552	27857552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacaaagctgttctgaaacGgctcaaggaggaacagaccc	11	11	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:27857552G>A	uc002hdz.1	+	18	2470	c.2276G>A	c.(2275-2277)CGG>CAG	p.R759Q	TAOK1_uc010wbe.1_Missense_Mutation_p.R611Q|TAOK1_uc010wbf.1_Missense_Mutation_p.R759Q	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	759	Potential.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)			GTTCTGAAACGGCTCAAGGAG	0.438													A	27857552	G	A	27857552	3	1	73	1	0	0	0	0	1	0	0	0	15544	1116	39	1	2342	1	TAOK1	17	27857552	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	573328	27857552	53337658	869	50047											
OMG	4974	broad.mit.edu	37	chr17	29622153	29622153	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttccctccataagttaagGgttgtgctttgttgaggcat	10	8	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:29622153G>T	uc002hgj.2	-	2	1410	c.1197C>A	c.(1195-1197)ACC>ACA	p.T399T	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron	NM_002544	NP_002535	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein precursor	399	Ser/Thr-rich.				cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		p.?(2)		ovary(1)|central_nervous_system(1)	2		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		ATAAGTTAAGGGTTGTGCTTT	0.413													T	29622153	G	T	29622153	2	4	73	1	0	0	0	0	0	0	0	1	10866	1219	43	5		5	OMG	17	29622153	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1764601	29622153	51573057	870	50048											
ZNF830	91603	broad.mit.edu	37	chr17	33289068	33289068	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttactccccgattatgaagaTgaggaggaggaggaagagga	15	5	0	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:33289068T>G	uc002hih.3	+	1	520	c.483T>G	c.(481-483)GAT>GAG	p.D161E	CCT6B_uc002hig.2_5'Flank|CCT6B_uc010ctg.2_5'Flank|CCT6B_uc010wcc.1_5'Flank	NM_052857	NP_443089	Q96NB3	ZN830_HUMAN	coiled-coil domain containing 16	161					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)	1		Ovarian(249;0.17)				ATTATGAAGATgaggaggagg	0.438													G	33289068	T	G	33289068	3	3	73	1	0	0	0	0	1	0	0	0	18181	1461	51	5	485	5	ZNF830	17	33289068	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	3666915	33289068	47906142	871	50049											
TAF15	8148	broad.mit.edu	37	chr17	34171552	34171552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaggtggagaccgaggcGgctatggtggagacagaagt	19	6	0	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:34171552G>A	uc002hkd.2	+	15	1335	c.1249G>A	c.(1249-1251)GGC>AGC	p.G417S	TAF15_uc002hkc.2_Missense_Mutation_p.G414S	NM_139215	NP_631961	Q92804	RBP56_HUMAN	TBP-associated factor 15 isoform 1	417	Arg/Gly-rich.|2.|21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	bone(33)|lung(1)|skin(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		agaccgaggcggctatggtgg	0.244			T	TEC|CHN1|ZNF384	extraskeletal myxoid chondrosarcomas|ALL								A	34171552	G	A	34171552	3	1	73	1	0	0	0	0	1	0	0	0	15515	1116	39	1	1307	1	TAF15	17	34171552	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	882484	34171552	47023658	872	50050											
THRA	7067	broad.mit.edu	37	chr17	38244713	38244713	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctttaacctggatgacacGgaagtggctctgctgcaggc	13	11	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:38244713G>T	uc002htw.2	+	8	1425	c.942G>T	c.(940-942)ACG>ACT	p.T314T	THRA_uc010cwp.1_Silent_p.T314T|THRA_uc002htv.2_Silent_p.T314T|THRA_uc002htx.2_Silent_p.T314T	NM_003250	NP_003241	P10827	THA_HUMAN	thyroid hormone receptor, alpha isoform 2	314	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding				0	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGATGACACGGAAGTGGCTC	0.572													T	38244713	G	T	38244713	2	4	73	1	0	0	0	0	0	0	0	1	15870	1103	39	5		5	THRA	17	38244713	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	4073161	38244713	42950497	873	50051											
KRT33B	3884	broad.mit.edu	37	chr17	39520144	39520144	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgaggaccacaaggattggTgacacaggatccaatgggct	13	9	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:39520144T>G	uc002hwl.2	-	7	1204	c.1159A>C	c.(1159-1161)ACC>CCC	p.T387P		NM_002279	NP_002270	Q14525	KT33B_HUMAN	type I hair keratin 3B	387	Tail.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)				CAAGGATTGGTGACACAGGAT	0.547													G	39520144	T	G	39520144	3	3	73	1	0	0	0	0	1	0	0	0	8470	1696	59	5	59	5	KRT33B	17	39520144	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	1275431	39520144	41675066	874	50052											
NKIRAS2	28511	broad.mit.edu	37	chr17	40174601	40174602	+	Frame_Shift_Del	DEL	TT	TT	-													agcacagatagcagagagtcTtttcagcgtgtggagctgct							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:40174600_40174601CTT>C	uc002hyq.3	+	2	343_344	c.278_279CTT>C	c.(277-279)tctfs	p.S93fs	NKIRAS2_uc010wgd.2_Frame_Shift_Del_p.L61fs|NKIRAS2_uc002hyr.3_Frame_Shift_Del_p.S93fs|NKIRAS2_uc002hys.3_Frame_Shift_Del_p.S93fs|NKIRAS2_uc010wge.2_Intron|NKIRAS2_uc002hyt.3_Frame_Shift_Del_p.S93fs	NM_001001349	NP_060065	Q9NYR9	KBRS2_HUMAN	Homo sapiens NFKB inhibitor interacting Ras-like 2 (NKIRAS2), transcript variant 1, mRNA.	93	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				AGCAGAGAGTCTTTTCAGCGTG	0.55													-	40174602	TT	-	40174601	7	5	73	1	0	1	0	1	0	0	0	0	10445	1609	56	0	285	0	NKIRAS2	17	40174601	Frame_Shift_Del	DEL	TT	TCGA-BR-8360-01A-11D-2340-08	654457	40174601	41020609	875	50053											
DHX58	79132	broad.mit.edu	37	chr17	40256795	40256795	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagaccttggcctggtActcggcctggtccattttct	10	14	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:40256795A>G	uc002hyw.3	-	11	1775	c.1552T>C	c.(1552-1554)TAC>CAC	p.Y518H	DHX58_uc002hyv.3_RNA|DHX58_uc010wgf.1_Missense_Mutation_p.Y511H	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	518	Potential.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding				0		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTGGCCTGGTACTCGGCCTGG	0.637													G	40256795	A	G	40256795	3	3	73	1	0	0	0	0	1	0	0	0	4514	391	14	3	500	3	DHX58	17	40256795	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	82194	40256795	40938415	876	50054											
PLEKHH3	79990	broad.mit.edu	37	chr17	40825735	40825735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggctcccgagacgccgcGcccctttcccgctgctgctg	12	19	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:40825735G>A	uc002iau.2	-	4	883	c.416C>T	c.(415-417)GCG>GTG	p.A139V	PLEKHH3_uc010cyl.1_5'Flank|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Missense_Mutation_p.A139V	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H	139	PH.				signal transduction	cytoskeleton				large_intestine(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GAGACGCCGCGCCCCTTTCCC	0.711													A	40825735	G	A	40825735	3	1	73	1	0	0	0	0	1	0	0	0	12078	1087	38	1	2005	1	PLEKHH3	17	40825735	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	568940	40825735	40369475	877	50055											
BRCA1	672	broad.mit.edu	37	chr17	41245719	41245719	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagaagacttcctcctcagcCtattctttttaggtgctttt	6	10	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:41245719C>A	uc002icq.2	-	10	2061	c.1829G>T	c.(1828-1830)AGG>ATG	p.R610M	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.R539M|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.R563M|BRCA1_uc002ict.2_Missense_Mutation_p.R610M|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.R610M|BRCA1_uc002ide.1_Missense_Mutation_p.R441M|BRCA1_uc010cyy.1_Missense_Mutation_p.R610M|BRCA1_uc010whs.1_Missense_Mutation_p.R610M|BRCA1_uc010cyz.2_Missense_Mutation_p.R563M|BRCA1_uc010cza.2_Missense_Mutation_p.R584M|BRCA1_uc010wht.1_Missense_Mutation_p.R314M	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	610					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTCCTCAGCCTATTCTTTTT	0.373			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			A	41245719	C	A	41245719	3	1	73	1	0	0	0	0	1	0	0	0	1498	681	24	5	3888	5	BRCA1	17	41245719	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	419984	41245719	39949491	878	50056											
RUNDC3A	10900	broad.mit.edu	37	chr17	42390848	42390848	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagaatacatcaccacggcTctgcgtgacacccggaccac	8	16	3	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:42390848T>G	uc002igl.3	+	4	709	c.435T>G	c.(433-435)GCT>GCG	p.A145A	RUNDC3A_uc002igi.2_Silent_p.A145A|RUNDC3A_uc002igj.2_Silent_p.A140A|RUNDC3A_uc002igk.2_Silent_p.A141A	NM_001144825	NP_001138297	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A isoform 1	145	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity				0		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCACCACGGCTCTGCGTGACA	0.562													G	42390848	T	G	42390848	2	3	73	1	0	0	0	0	0	0	0	1	13744	1538	54	5		5	RUNDC3A	17	42390848	Silent	SNP	T	TCGA-BR-8360-01A-11D-2340-08	1145129	42390848	38804362	879	50057											
KIF18B	146909	broad.mit.edu	37	chr17	43008980	43008980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatacctactgcttagaacGgtccccatccagttcccgtg	8	14	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:43008980G>A	uc010wji.1	-	11	1644	c.1543C>T	c.(1543-1545)CGT>TGT	p.R515C	KIF18B_uc002iht.2_Missense_Mutation_p.R515C|KIF18B_uc010wjh.1_Missense_Mutation_p.R503C	NM_001080443	NP_001073912			kinesin family member 18B											ovary(2)	2		Prostate(33;0.155)				TGCTTAGAACGGTCCCCATCC	0.567													A	43008980	G	A	43008980	3	1	73	1	0	0	0	0	1	0	0	0	8281	1116	39	1	1047	1	KIF18B	17	43008980	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	618132	43008980	38186230	880	50058											
HEXIM2	124790	broad.mit.edu	37	chr17	43240210	43240211	+	Frame_Shift_Ins	INS	-	-	C													aatgcagagtcaccagtggcINScctggaggaggccaaggtaa							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:43240209_43240210G>GC	uc010daf.1	+	1	140_141	c.115_116G>GC	c.(115-117)gccfs	p.A39fs	HEXIM2_uc002iih.1_Frame_Shift_Ins_p.A17fs|HEXIM2_uc002iii.1_Frame_Shift_Ins_p.A17fs|HEXIM2_uc002iij.1_Frame_Shift_Ins_p.A17fs	NM_144608	NP_653209	Q96MH2	HEXI2_HUMAN	Homo sapiens hexamethylene bis-acetamide inducible 2 (HEXIM2), mRNA.	17					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						GTCACCAGTGGCCCTGGAGGAG	0.564													C	43240211	-	C	43240210	7	5	73	1	0	1	1	0	0	0	0	0	7077	739	26	0	52	0	HEXIM2	17	43240210	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	231230	43240210	37955000	881	50059											
MAP3K14	9020	broad.mit.edu	37	chr17	43364390	43364390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtttctaacatatggggCgccgagtggagactcatcct	13	9	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:43364390C>T	uc002iiw.1	-	5	668	c.559G>A	c.(559-561)GCC>ACC	p.A187T	MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_5'UTR	NM_003954	NP_003945	Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase	187					cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						ACATATGGGGCGCCGAGTGGA	0.597													T	43364390	C	T	43364390	3	4	73	1	0	0	0	0	1	0	0	0	9248	768	27	1	2331	1	MAP3K14	17	43364390	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	124180	43364390	37830820	882	50060											
NFE2L1	4779	broad.mit.edu	37	chr17	46135782	46135782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtcagcctgcatcaggcGtccctggggggctgcagcca	14	13	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:46135782G>A	uc002imz.3	+	6	1749	c.1098G>A	c.(1096-1098)GCG>GCA	p.A366A	NFE2L1_uc002ina.3_Silent_p.A336A|NFE2L1_uc002inb.3_Silent_p.A336A|NFE2L1_uc010wle.1_Silent_p.A178A|NFE2L1_uc010wlf.1_Silent_p.A210A	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	366					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			skin(1)	1						TGCATCAGGCGTCCCTGGGGG	0.612													A	46135782	G	A	46135782	2	1	73	1	0	0	0	0	0	0	0	1	10367	1132	40	1		1	NFE2L1	17	46135782	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2771392	46135782	35059428	883	50061											
HOXB1	3211	broad.mit.edu	37	chr17	46607743	46607743	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtcgaaggtccgggccgtgGgggtgttaggttctgaaggg	20	6	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:46607743G>T	uc002ink.1	-	1	530	c.524C>A	c.(523-525)CCC>CAC	p.P175H		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	175						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCGGGCCGTGGGGGTGTTAGG	0.597													T	46607743	G	T	46607743	3	4	73	1	0	0	0	0	1	0	0	0	7299	1232	43	5	389	5	HOXB1	17	46607743	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	471961	46607743	34587467	884	50062											
HOXB3	3213	broad.mit.edu	37	chr17	46628518	46628518	+	Silent	SNP	A	A	G													ctgcctccgccgccgccgccAccgccgccgccaccacagcc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:46628518A>G	uc002inn.2	-	2	874	c.474T>C	c.(472-474)GGT>GGC	p.G158G	HOXB3_uc010wlm.1_Silent_p.G85G|HOXB3_uc010dbf.2_Silent_p.G158G|HOXB3_uc010dbg.2_Silent_p.G158G|HOXB3_uc002ino.2_Silent_p.G158G|HOXB3_uc010wlk.1_Silent_p.G26G|HOXB3_uc010wll.1_Silent_p.G85G	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	158	Gly-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						cgccgccgccaccgccgccgc	0.393													G	46628518	A	G	46628518	2	3	73	1	0	0	0	0	0	0	0	1	7302	146	6	3		3	HOXB3	17	46628518	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	20775	46628518	34566692	885	50063	197	2									
HOXB3	3213	broad.mit.edu	37	chr17	46628524	46628524	+	Silent	SNP	G	G	A													ccgccgccgccgccaccgccGccgccaccacagccctctgc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:46628524G>A	uc002inn.2	-	2	868	c.468C>T	c.(466-468)GGC>GGT	p.G156G	HOXB3_uc010wlm.1_Silent_p.G83G|HOXB3_uc010dbf.2_Silent_p.G156G|HOXB3_uc010dbg.2_Silent_p.G156G|HOXB3_uc002ino.2_Silent_p.G156G|HOXB3_uc010wlk.1_Silent_p.G24G|HOXB3_uc010wll.1_Silent_p.G83G	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	156	Gly-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						cgccaccgccgccgccaccAC	0.383													A	46628524	G	A	46628524	2	1	73	1	0	0	0	0	0	0	0	1	7302	1074	38	1		1	HOXB3	17	46628524	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	6	46628524	34566686	886	50064	197	2									
HOXB3	3213	broad.mit.edu	37	chr17	46629516	46629516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccacttttgctgggcccGcccccattactgctgttgct	10	15	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:46629516G>A	uc002inn.2	-	1	721	c.321C>T	c.(319-321)GGC>GGT	p.G107G	HOXB3_uc010wlm.1_Silent_p.G34G|HOXB3_uc010dbf.2_Silent_p.G107G|HOXB3_uc010dbg.2_Silent_p.G107G|HOXB3_uc002ino.2_Silent_p.G107G|HOXB3_uc010wlk.1_Intron|HOXB3_uc010wll.1_Silent_p.G34G	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	107					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TGCTGGGCCCGCCCCCATTAC	0.652													A	46629516	G	A	46629516	2	1	73	1	0	0	0	0	0	0	0	1	7302	1074	38	1		1	HOXB3	17	46629516	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	992	46629516	34565694	887	50065											
HOXB13	10481	broad.mit.edu	37	chr17	46804349	46804349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccttgctgtacggaatgcGtttcttgcggccgcgacgaa	12	13	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:46804349G>A	uc002ioa.2	-	2	814	c.658C>T	c.(658-660)CGC>TGC	p.R220C	hsa-mir-3185|MI0014227_5'Flank	NM_006361	NP_006352	Q92826	HXB13_HUMAN	homeobox B13	220	Homeobox.				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TACGGAATGCGTTTCTTGCGG	0.617													A	46804349	G	A	46804349	3	1	73	1	0	0	0	0	1	0	0	0	7300	1145	40	1	200	1	HOXB13	17	46804349	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	174833	46804349	34390861	888	50066											
XYLT2	64132	broad.mit.edu	37	chr17	48433258	48433258	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatggcggttctgactggtTcgtgctgacacgcagctttg	15	9	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:48433258T>C	uc002iqo.2	+	6	1314	c.1205T>C	c.(1204-1206)TTC>TCC	p.F402S	XYLT2_uc010dbo.2_RNA	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	402	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			pancreas(1)	1	Breast(11;7.18e-19)					TCTGACTGGTTCGTGCTGACA	0.607													C	48433258	T	C	48433258	3	2	73	1	0	0	0	0	1	0	0	0	17461	1783	62	3	1227	3	XYLT2	17	48433258	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	1628909	48433258	32761952	889	50067											
CACNA1G	8913	broad.mit.edu	37	chr17	48653598	48653598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcactagtagaggtggctgCcagctctgggcccccaaccc	13	15	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:48653598C>T	uc002irk.1	+	8	2207	c.1835C>T	c.(1834-1836)GCC>GTC	p.A612V	CACNA1G_uc002iri.1_Missense_Mutation_p.A612V|CACNA1G_uc002irj.1_Missense_Mutation_p.A612V|CACNA1G_uc002irl.1_Missense_Mutation_p.A612V|CACNA1G_uc002irm.1_Missense_Mutation_p.A612V|CACNA1G_uc002irn.1_Missense_Mutation_p.A612V|CACNA1G_uc002iro.1_Missense_Mutation_p.A612V|CACNA1G_uc002irp.1_Missense_Mutation_p.A612V|CACNA1G_uc002irq.1_Missense_Mutation_p.A612V|CACNA1G_uc002irr.1_Missense_Mutation_p.A612V|CACNA1G_uc002irs.1_Missense_Mutation_p.A612V|CACNA1G_uc002irt.1_Missense_Mutation_p.A612V|CACNA1G_uc002irv.1_Missense_Mutation_p.A612V|CACNA1G_uc002irw.1_Missense_Mutation_p.A612V|CACNA1G_uc002iru.1_Missense_Mutation_p.A612V|CACNA1G_uc002irx.1_Missense_Mutation_p.A525V|CACNA1G_uc002iry.1_Missense_Mutation_p.A525V|CACNA1G_uc002irz.1_Missense_Mutation_p.A525V|CACNA1G_uc002isa.1_Missense_Mutation_p.A525V|CACNA1G_uc002isb.1_Missense_Mutation_p.A525V|CACNA1G_uc002isc.1_Missense_Mutation_p.A525V|CACNA1G_uc002isd.1_Missense_Mutation_p.A525V|CACNA1G_uc002ise.1_Missense_Mutation_p.A525V|CACNA1G_uc002isf.1_Missense_Mutation_p.A525V|CACNA1G_uc002isg.1_Missense_Mutation_p.A525V|CACNA1G_uc002ish.1_Missense_Mutation_p.A525V|CACNA1G_uc002isi.1_Missense_Mutation_p.A525V	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	612	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAGGTGGCTGCCAGCTCTGGG	0.627													T	48653598	C	T	48653598	3	4	73	1	0	0	0	0	1	0	0	0	2544	739	26	2	1865	2	CACNA1G	17	48653598	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	220340	48653598	32541612	890	50068											
TRIM25	7706	broad.mit.edu	37	chr17	54969424	54969424	+	Frame_Shift_Del	DEL	C	C	-													tccacctcccagtagtggatCcccttcttgtagcagtgcag							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:54969423_54969423TC>T	uc002iut.3	-	8	1591	c.1531_1531GA>A	c.(1531-1533)atcfs	p.I511fs	TRIM25_uc010dcj.3_Frame_Shift_Del_p.I303fs|TRIM25_uc021uaj.1_5'Flank	NM_005082	NP_005073	Q14258	TRI25_HUMAN	Homo sapiens tripartite motif containing 25 (TRIM25), mRNA.	511	B30.2/SPRY.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CAGTAGTGGATCCCCTTCTTG	0.587													-	54969424	C	-	54969424	7	5	73	1	0	1	0	1	0	0	0	0	16496	842	30	0	366	0	TRIM25	17	54969424	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	6315826	54969424	26225786	891	50069											
CUEDC1	404093	broad.mit.edu	37	chr17	55945510	55945510	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccaggctggaaaggataCgactgatgcttcaacaagtg	13	8	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:55945510C>T	uc002ivd.1	-	8	1753	c.1034_splice	c.e8+1	p.S345_splice	CUEDC1_uc002ive.1_Splice_Site_p.S345_splice	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	CUE domain-containing 1											skin(2)	2						GGAAAGGATACGACTGATGCT	0.572													T	55945510	C	T	55945510	5	4	73	1	0	0	0	0	0	0	1	0	4052	550	19	1	137	1	CUEDC1	17	55945510	Splice_Site	SNP	C	TCGA-BR-8360-01A-11D-2340-08	976086	55945510	25249700	892	50070											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	73	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	489651	56435161	24760049	893	50071											
C17orf71	55181	broad.mit.edu	37	chr17	57290673	57290673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattcctggaaagagaagtgCggttgtaatgggaagaggaa	15	3	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:57290673C>T	uc002ixi.2	+	3	2531	c.2489C>T	c.(2488-2490)GCG>GTG	p.A830V		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	830					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					AAGAGAAGTGCGGTTGTAATG	0.478													T	57290673	C	T	57290673	3	4	73	1	0	0	0	0	1	0	0	0	1878	768	27	1	2499	1	C17orf71	17	57290673	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	855512	57290673	23904537	894	50072											
RPS6KB1	6198	broad.mit.edu	37	chr17	58022829	58022829	+	Frame_Shift_Del	DEL	A	A	-													gaaaagttttcctttgaaccAaaaatccgatcacctcgaag							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:58022829delA	uc002ixy.2	+	14	1393	c.1290delA	c.(1288-1290)CCAfs	p.P430fs	RPS6KB1_uc010ddj.1_Frame_Shift_Del_p.P430fs|RPS6KB1_uc010wom.1_Frame_Shift_Del_p.P377fs|RPS6KB1_uc010won.1_Frame_Shift_Del_p.P407fs|RPS6KB1_uc010woo.1_Frame_Shift_Del_p.P365fs|RPS6KB1_uc002ixz.2_RNA	NM_003161	NP_003152	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	430	Autoinhibitory domain.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			large_intestine(1)	1	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			CCTTTGAACCAAAAATCCGAT	0.368													-	58022829	A	-	58022829	7	5	73	1	0	1	0	1	0	0	0	0	13656	117	5	0	1344	0	RPS6KB1	17	58022829	Frame_Shift_Del	DEL	A	TCGA-BR-8360-01A-11D-2340-08	732156	58022829	23172381	895	50073											
PPM1D	8493	broad.mit.edu	37	chr17	58740439	58740439	+	Frame_Shift_Del	DEL	T	T	-													agcaatgccttctcagagaaTtttttagaggtttcagctga							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:58740439delT	uc002iyt.1	+	6	1566	c.1344delT	c.(1342-1344)AATfs	p.N448fs	PPM1D_uc010ddm.1_RNA	NM_003620	NP_003611	O15297	PPM1D_HUMAN	protein phosphatase 1D	448					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			upper_aerodigestive_tract(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TCTCAGAGAATTTTTTAGAGG	0.448											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	-	58740439	T	-	58740439	7	5	73	1	0	1	0	1	0	0	0	0	12337	1490	52	0	1366	0	PPM1D	17	58740439	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	717610	58740439	22454771	896	50074											
PPM1D	8493	broad.mit.edu	37	chr17	58740617	58740617	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaattcaacaaacactgtcAtggaccaaaaaaatttgaag	5	8	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:58740617A>G	uc002iyt.1	+	6	1744	c.1522A>G	c.(1522-1524)ATG>GTG	p.M508V	PPM1D_uc010ddm.1_RNA	NM_003620	NP_003611	O15297	PPM1D_HUMAN	protein phosphatase 1D	508					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			upper_aerodigestive_tract(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			AAACACTGTCATGGACCAAAA	0.378											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	G	58740617	A	G	58740617	3	3	73	1	0	0	0	0	1	0	0	0	12337	217	8	3	1544	3	PPM1D	17	58740617	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	178	58740617	22454593	897	50075											
TEX2	55852	broad.mit.edu	37	chr17	62272340	62272340	+	Frame_Shift_Del	DEL	T	T	-													agctggccctcctggatataTttttattgggctttgaaagt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:62272340delT	uc002jec.2	-	3	1933	c.1760delA	c.(1759-1761)AATfs	p.N587fs	TEX2_uc002jed.2_Frame_Shift_Del_p.N587fs|TEX2_uc002jee.2_Frame_Shift_Del_p.N587fs	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	587					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CCTGGATATATTTTTATTGGG	0.443													-	62272340	T	-	62272340	7	5	73	1	0	1	0	1	0	0	0	0	15778	1493	52	0	1684	0	TEX2	17	62272340	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	3531723	62272340	18922870	898	50076											
CCDC45	90799	broad.mit.edu	37	chr17	62532743	62532743	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaagaaactgtttgaagaAggtttaaacattcaaaagca	7	4	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:62532743A>C	uc002jem.2	+	18	2152	c.2094A>C	c.(2092-2094)GAA>GAC	p.E698D	CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Missense_Mutation_p.E534D	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45	698						centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TGTTTGAAGAAGGTTTAAACA	0.348													C	62532743	A	C	62532743	3	2	73	1	0	0	0	0	1	0	0	0	2816	69	3	5	2164	5	CCDC45	17	62532743	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	260403	62532743	18662467	899	50077											
CACNG5	27091	broad.mit.edu	37	chr17	64873462	64873462	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggaagatgagtgcctgCgggaggaaggccctgaccct	15	11	0	3	rs138908277		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:64873462C>T	uc010wqi.1	+	2	249	c.12C>T	c.(10-12)TGC>TGT	p.C4C	CACNG5_uc002jfr.2_Silent_p.C4C|CACNG5_uc010wqj.1_Silent_p.C4C	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	4					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TGAGTGCCTGCGGGAGGAAGG	0.637													T	64873462	C	T	64873462	2	4	73	1	0	0	0	0	0	0	0	1	2560	776	27	1		1	CACNG5	17	64873462	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2340719	64873462	16321748	900	50078											
PRKAR1A	5573	broad.mit.edu	37	chr17	66511682	66511682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgacctgagagacccatgGcattcctcagggaatacttt	9	12	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:66511682G>A	uc002jhg.2	+	2	322	c.142G>A	c.(142-144)GCA>ACA	p.A48T	PRKAR1A_uc002jhh.2_Missense_Mutation_p.A48T|PRKAR1A_uc002jhi.2_Missense_Mutation_p.A48T|PRKAR1A_uc002jhj.2_Missense_Mutation_p.A48T|PRKAR1A_uc002jhk.2_5'UTR|PRKAR1A_uc002jhl.2_Missense_Mutation_p.A48T|PRKAR1A_uc002jhm.2_Missense_Mutation_p.A48T	NM_212471	NP_997636	P10644	KAP0_HUMAN	cAMP-dependent protein kinase, regulatory	48	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|lung(3)|thyroid(2)|soft_tissue(2)|breast(1)	12	Breast(10;1.64e-13)					GAGACCCATGGCATTCCTCAG	0.438			T|Mis|N|F|S	RET	papillary thyroid	myxoma|endocrine|papillary thyroid			Carney_Complex|Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial|Cardiac_Myxomas_Familial_Clustering_of				A	66511682	G	A	66511682	3	1	73	1	0	0	0	0	1	0	0	0	12503	1203	42	2	144	2	PRKAR1A	17	66511682	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1638220	66511682	14683528	901	50079											
ABCA9	10350	broad.mit.edu	37	chr17	66980295	66980295	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccctctccgtgtttctAaaggtggcccgaatcacctg	10	15	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:66980295A>G	uc002jhu.2	-	35	4544	c.4401T>C	c.(4399-4401)TTT>TTC	p.F1467F	ABCA9_uc010dez.2_Silent_p.F1429F	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1467	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					CCGTGTTTCTAAAGGTGGCCC	0.507													G	66980295	A	G	66980295	2	3	73	1	0	0	0	0	0	0	0	1	39	359	13	3		3	ABCA9	17	66980295	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	468613	66980295	14214915	902	50080											
ABCA5	23461	broad.mit.edu	37	chr17	67261049	67261049	+	Splice_Site	DEL	A	A	-													ttgagtataagctttgatctAaaaaaaatgaaaaacaattt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:67261048_67261048TA>T	uc002jif.2	-	23	4363	c.3145_splice	c.e23-1	p.I1049_splice	ABCA5_uc002jib.2_Splice_Site_p.I15_splice|ABCA5_uc002jic.2_Splice_Site_p.I272_splice|ABCA5_uc002jid.2_Intron|ABCA5_uc002jie.2_Splice_Site|ABCA5_uc002jig.2_Splice_Site_p.I1049_splice	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1049					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					AGCTTTGATCTAAAAAAAATG	0.259													-	67261049	A	-	67261049	8	5	73	1	0	1	0	1	0	0	1	0	35	377	13	0		0	ABCA5	17	67261049	Splice_Site	DEL	A	TCGA-BR-8360-01A-11D-2340-08	280754	67261049	13934161	903	50081											
GRIN2C	2905	broad.mit.edu	37	chr17	72851041	72851041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgaccccaactgtgagcGgctggatctccaggggtagg	15	10	1	2	rs145634769	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:72851041G>A	uc002jlt.1	-	2	347	c.191C>T	c.(190-192)CCG>CTG	p.P64L	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.P64L|GRIN2C_uc002jlv.1_Missense_Mutation_p.P64L	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	64	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	AACTGTGAGCGGCTGGATCTC	0.657													A	72851041	G	A	72851041	3	1	73	1	0	0	0	0	1	0	0	0	6781	1116	39	1	3558	1	GRIN2C	17	72851041	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	5589992	72851041	8344169	904	50082											
FDXR	2232	broad.mit.edu	37	chr17	72859231	72859231	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggcctggatggctgcgtAgccaggcctggggccagagg	19	11	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:72859231A>G	uc002jly.2	-	11	1399	c.1312T>C	c.(1312-1314)TAC>CAC	p.Y438H	GRIN2C_uc002jlu.1_5'Flank|GRIN2C_uc002jlv.1_5'Flank|FDXR_uc010wri.1_Missense_Mutation_p.Y386H|FDXR_uc010wrj.1_Missense_Mutation_p.Y436H|FDXR_uc002jlw.2_Missense_Mutation_p.Y195H|FDXR_uc002jlx.2_Missense_Mutation_p.Y444H|FDXR_uc002jmc.2_Missense_Mutation_p.Y410H|FDXR_uc010wrk.1_Missense_Mutation_p.Y469H|FDXR_uc010wrl.1_Missense_Mutation_p.Y481H|FDXR_uc002jma.2_Missense_Mutation_p.Y439H|FDXR_uc010wrm.1_Missense_Mutation_p.Y398H|FDXR_uc002jlz.2_Missense_Mutation_p.Y430H|FDXR_uc002jmb.2_RNA	NM_024417	NP_077728	P22570	ADRO_HUMAN	ferredoxin reductase isoform 1 precursor	438					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)					ATGGCTGCGTAGCCAGGCCTG	0.647													G	72859231	A	G	72859231	3	3	73	1	0	0	0	0	1	0	0	0	5807	420	15	3	171	3	FDXR	17	72859231	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	8190	72859231	8335979	905	50083											
UBE2O	63893	broad.mit.edu	37	chr17	74394635	74394635	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtccccagactgtaccacaCcgtagacagcagggtctgga	12	13	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:74394635C>A	uc002jrm.3	-	11	1879	c.1814G>T	c.(1813-1815)GGT>GTT	p.G605V	UBE2O_uc002jrn.3_Missense_Mutation_p.G605V|UBE2O_uc002jrl.3_Missense_Mutation_p.G208V	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	605							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						CTGTACCACACCGTAGACAGC	0.587											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	74394635	C	A	74394635	3	1	73	1	0	0	0	0	1	0	0	0	16865	507	18	5	2096	5	UBE2O	17	74394635	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1535404	74394635	6800575	906	50084											
RNF213	57674	broad.mit.edu	37	chr17	78319303	78319303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccccaggccaccgaccccGacaaaacgtatgagctcaca	7	18	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:78319303G>A	uc002jyh.1	+	4	1610	c.1387G>A	c.(1387-1389)GAC>AAC	p.D463N		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CACCGACCCCGACAAAACGTA	0.527													A	78319303	G	A	78319303	3	1	73	1	0	0	0	0	1	0	0	0	13477	1058	37	1	7597	1	RNF213	17	78319303	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	3924668	78319303	2875907	907	50085											
NPLOC4	55666	broad.mit.edu	37	chr17	79539094	79539094	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgggccagctgggtgatctcGttgccaaacttgtctacgtc	12	12	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:79539094G>C	uc002kat.3	-	13	1484	c.1302C>G	c.(1300-1302)AAC>AAG	p.N434K	NPLOC4_uc002kau.3_Missense_Mutation_p.N434K|NPLOC4_uc010wur.1_Missense_Mutation_p.N273K|NPLOC4_uc002kas.2_5'Flank	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4	434					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGGTGATCTCGTTGCCAAACT	0.542													C	79539094	G	C	79539094	3	2	73	1	0	0	0	0	1	0	0	0	10586	1136	40	5	544	5	NPLOC4	17	79539094	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1219791	79539094	1656116	908	50086											
DCXR	51181	broad.mit.edu	37	chr17	79994478	79994478	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctggagacattcacgatGgcccctgggactccccgggc	14	14	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:79994478G>A	uc002kdg.2	-	5	405	c.390C>T	c.(388-390)GCC>GCT	p.A130A		NM_016286	NP_057370	Q7Z4W1	DCXR_HUMAN	dicarbonyl/L-xylulose reductase	130					D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process	membrane	binding|L-xylulose reductase (NADP+) activity				0	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CATTCACGATGGCCCCTGGGA	0.532													A	79994478	G	A	79994478	2	1	73	1	0	0	0	0	0	0	0	1	4319	1335	47	4		4	DCXR	17	79994478	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	455384	79994478	1200732	909	50087											
HEXDC	284004	broad.mit.edu	37	chr17	80397570	80397570	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccgtccctggccgcctgCctgcagttgcttctacgcgg	12	17	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:80397570C>T	uc002kew.2	+	8	1014	c.963C>T	c.(961-963)TGC>TGT	p.C321C	HEXDC_uc002kev.3_Silent_p.C321C|HEXDC_uc010diq.2_Silent_p.C321C|HEXDC_uc010wvm.1_RNA|HEXDC_uc010wvn.1_Silent_p.C84C			Q8WVB3	HEXDC_HUMAN	SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;	321					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			ovary(1)|skin(1)	2	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TGGCCGCCTGCCTGCAGTTGC	0.682													T	80397570	C	T	80397570	2	4	73	1	0	0	0	0	0	0	0	1	7075	747	26	2		2	HEXDC	17	80397570	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	403092	80397570	797640	910	50088											
ENOSF1	55556	broad.mit.edu	37	chr18	683287	683287	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgtcatcaggggaggTtggctcctcaatccacaatg	11	10	3	1	rs146518307	by1000genomes	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:683287T>A	uc002kku.3	-	11	910	c.835A>T	c.(835-837)ACC>TCC	p.T279S	ENOSF1_uc002kkt.3_Missense_Mutation_p.T197S|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Missense_Mutation_p.T300S|ENOSF1_uc002kkv.3_Missense_Mutation_p.T266S|ENOSF1_uc002kkw.3_Missense_Mutation_p.T98S|ENOSF1_uc002kkx.3_Missense_Mutation_p.T203S	NM_017512	NP_059982	Q7L5Y1	ENOF1_HUMAN	enolase superfamily 1 isoform rTS beta	279					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			ovary(1)	1						TCAGGGGAGGTTGGCTCCTCA	0.532													A	683287	T	A	683287	3	1	73	1	0	0	0	0	1	0	0	0	5125	1725	60	5	520	5	ENOSF1	18	683287	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08		683287	77393961	911	50089											
LAMA1	284217	broad.mit.edu	37	chr18	6959369	6959369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccaaggagatggaatgCgcttgtccatcactgcaggt	12	10	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:6959369C>T	uc002knm.2	-	54	7843	c.7749G>A	c.(7747-7749)GCG>GCA	p.A2583A	LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Silent_p.A36A|LAMA1_uc010wzj.1_Silent_p.A2059A	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2583	Laminin G-like 3.				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)	AGATGGAATGCGCTTGTCCAT	0.562													T	6959369	C	T	6959369	2	4	73	1	0	0	0	0	0	0	0	1	8605	755	27	1		1	LAMA1	18	6959369	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	6276082	6959369	71117879	912	50090											
TUBB6	84617	broad.mit.edu	37	chr18	12325590	12325590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgcctgcacttcttcatgCctggcttcgcgccgctcacc	9	19	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:12325590C>T	uc002kqw.2	+	4	847	c.802C>T	c.(802-804)CCT>TCT	p.P268S	TUBB6_uc002kqv.2_Missense_Mutation_p.P196S|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Missense_Mutation_p.P231S|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	268					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)		CTTCTTCATGCCTGGCTTCGC	0.672													T	12325590	C	T	12325590	3	4	73	1	0	0	0	0	1	0	0	0	16757	739	26	2	816	2	TUBB6	18	12325590	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	5366221	12325590	65751658	913	50091											
CEP192	55125	broad.mit.edu	37	chr18	13052949	13052950	+	In_Frame_Ins	INS	-	-	CAG													gtcctttggttcagcagctcINSagcagcagcagcctccctgt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:13052948_13052949T>TCAG	uc010xac.2	+	17	3128_3129	c.3048_3049T>TCAG	c.(3046-3051)gctcag>gcTCAGag	p.1016_1017AQ>AQ	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_In_Frame_Ins_p.541_542AQ>AQ|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'Flank|CEP192_uc002krs.1_In_Frame_Ins_p.757_758AQ>AQ	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	611										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTTCAGCAGCTCAGCAGCAGCA	0.525													CAG	13052950	-	CAG	13052949	7	5	73	1	0	1	1	0	0	0	0	0	3251	827	29	0	3115	0	CEP192	18	13052949	In_Frame_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	727359	13052949	65024299	914	50092											
PSMA8	143471	broad.mit.edu	37	chr18	23772332	23772332	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaactgaaatagaaaaggAaaaggaagaagcagagaaga	12	2	0	5			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:23772332A>G	uc002kvq.2	+	7	842	c.728A>G	c.(727-729)GAA>GGA	p.E243G	PSMA8_uc002kvo.2_Missense_Mutation_p.E199G|PSMA8_uc002kvp.2_Missense_Mutation_p.E237G|PSMA8_uc002kvr.2_Missense_Mutation_p.E211G	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	proteasome alpha 8 subunit isoform 1	243					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			skin(1)	1	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			ATAGAAAAGGAAAAGGAAGAA	0.299													G	23772332	A	G	23772332	3	3	73	1	0	0	0	0	1	0	0	0	12673	246	9	3	754	3	PSMA8	18	23772332	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	10719383	23772332	54304916	915	50093											
MEP1B	4225	broad.mit.edu	37	chr18	29788119	29788119	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggactcgtgcagttttgaActggaaaatgtgtgtggcat	13	5	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:29788119A>G	uc002kxj.3	+	9	851	c.804A>G	c.(802-804)GAA>GAG	p.E268E		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	meprin A beta precursor	268	Extracellular (Potential).|MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)	2						GCAGTTTTGAACTGGAAAATG	0.413													G	29788119	A	G	29788119	2	3	73	1	0	0	0	0	0	0	0	1	9476	40	2	3		3	MEP1B	18	29788119	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	6015787	29788119	48289129	916	50094											
ASXL3	80816	broad.mit.edu	37	chr18	31319986	31319986	+	Frame_Shift_Del	DEL	A	A	-													tagcgtcctgcaaagaacagAaaaaaaagtgttaccttcac							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:31319985_31319985GA>G	uc010dmg.1	+	10	2672	c.2617_2617GA>G	c.(2617-2619)gaafs	p.E873fs	ASXL3_uc002kxq.2_Frame_Shift_Del_p.E580fs	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAAAGAACAGAAAAAAAAGT	0.378													-	31319986	A	-	31319986	7	5	73	1	0	1	0	1	0	0	0	0	1068	246	9	0	2660	0	ASXL3	18	31319986	Frame_Shift_Del	DEL	A	TCGA-BR-8360-01A-11D-2340-08	1531867	31319986	46757262	917	50095											
ASXL3	80816	broad.mit.edu	37	chr18	31325872	31325872	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagtacatccgccgccgccAccgcctccccctccccctcc	5	26	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:31325872A>G	uc010dmg.1	+	12	6115	c.6060A>G	c.(6058-6060)CCA>CCG	p.P2020P	ASXL3_uc002kxq.2_Silent_p.P1727P	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	2020	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						cgccgccgccaccgcctcccc	0.274													G	31325872	A	G	31325872	2	3	73	1	0	0	0	0	0	0	0	1	1068	146	6	3		3	ASXL3	18	31325872	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	5886	31325872	46751376	918	50096											
DTNA	1837	broad.mit.edu	37	chr18	32455332	32455332	+	Frame_Shift_Del	DEL	G	G	-													aggactccctcacaggagtaGggggagatgtacaagaggca							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:32455331_32455331AG>A	uc010dmn.1	+	16	1792	c.1791_1791AG>A	c.(1789-1791)gtafs	p.V597fs	DTNA_uc002kxw.2_Frame_Shift_Del_p.V540fs|DTNA_uc002kxz.2_Frame_Shift_Del_p.V544fs|DTNA_uc002kxy.2_Frame_Shift_Del_p.V537fs|DTNA_uc010dmj.3_Frame_Shift_Del_p.V537fs|DTNA_uc010xby.1_Frame_Shift_Del_p.V287fs|DTNA_uc002kye.3_Frame_Shift_Del_p.V245fs|DTNA_uc010xca.2_Frame_Shift_Del_p.V249fs|DTNA_uc010xbz.2_Frame_Shift_Del_p.V306fs	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	597					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TCACAGGAGTAGGGGGAGATG	0.542													-	32455332	G	-	32455332	7	5	73	1	0	1	0	1	0	0	0	0	4788	1000	35	0	1948	0	DTNA	18	32455332	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	1129460	32455332	45621916	919	50097											
ELP2	55250	broad.mit.edu	37	chr18	33744530	33744530	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccacagtttgacagtcacGcagatggccttctcacctaa	7	13	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:33744530G>A	uc002kzk.1	+	18	1864	c.1854G>A	c.(1852-1854)ACG>ACA	p.T618T	ELP2_uc010xcg.1_Silent_p.T683T|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Silent_p.T592T|ELP2_uc010xch.1_Silent_p.T613T|ELP2_uc002kzn.1_Silent_p.T548T|ELP2_uc002kzo.1_Silent_p.T548T	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	618	WD 11.				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4						TGACAGTCACGCAGATGGCCT	0.433													A	33744530	G	A	33744530	2	1	73	1	0	0	0	0	0	0	0	1	5080	1074	38	1		1	ELP2	18	33744530	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1289198	33744530	44332718	920	50098											
MOCOS	55034	broad.mit.edu	37	chr18	33780119	33780139	+	In_Frame_Del	DEL	TCCCCATCTCCTTCTATAAGA	TCCCCATCTCCTTCTATAAGA	-													agctcaccaggccgactttgTccccatctccttctataaga					rs148137052	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:33780118_33780138GTCCCCATCTCCTTCTATAAGA>G	uc002kzq.4	+	3	795_815	c.772_792GTCCCCATCTCCTTCTATAAGA>G	c.(772-792)gtccccatctccttctataag>G	p.VPISFYK258del		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA.	258					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GGCCGACTTTGTCCCCATCTCCTTCTATAAGATCTTCGGGT	0.584													-	33780139	TCCCCATCTCCTTCTATAAGA	-	33780119	7	5	73	1	0	1	0	1	0	0	0	0	9689	1667	58	0	787	0	MOCOS	18	33780119	In_Frame_Del	DEL	TCCCCATCTCCTTCTATAAGA	TCGA-BR-8360-01A-11D-2340-08	35589	33780119	44297129	921	50099											
FHOD3	80206	broad.mit.edu	37	chr18	34349306	34349306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgatgagatcatggaccGcatcgtcaagtcagccaccc	10	13	3	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:34349306G>A	uc002kzt.1	+	23	4200	c.4103G>A	c.(4102-4104)CGC>CAC	p.R1368H	FHOD3_uc002kzs.1_Missense_Mutation_p.R1385H|FHOD3_uc010dmz.1_Missense_Mutation_p.R1100H|FHOD3_uc010dnb.1_Missense_Mutation_p.A306T	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1368	DAD.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ATCATGGACCGCATCGTCAAG	0.517													A	34349306	G	A	34349306	3	1	73	1	0	0	0	0	1	0	0	0	5883	1087	38	1	4248	1	FHOD3	18	34349306	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	569187	34349306	43727942	922	50100											
SETBP1	26040	broad.mit.edu	37	chr18	42281720	42281720	+	Frame_Shift_Del	DEL	G	G	-													agatcaccatcaagcagtctGgggaccagaaggtgtcccgt							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:42281719_42281719TG>T	uc010dni.3	+	1	704	c.408_408TG>T	c.(406-408)tctfs	p.S136fs	SETBP1_uc002lay.3_Frame_Shift_Del_p.S136fs	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	136						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCAAGCAGTCTGGGGACCAGA	0.463									Schinzel-Giedion syndrome				-	42281720	G	-	42281720	7	5	73	1	0	1	0	1	0	0	0	0	14129	1348	47	0	411	0	SETBP1	18	42281720	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	7932414	42281720	35795528	923	50101											
SETBP1	26040	broad.mit.edu	37	chr18	42532660	42532660	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcatggagtacacctgcagGgacctgttagcatgggcctt	13	10	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:42532660G>T	uc010dni.2	+	4	3651	c.3355G>T	c.(3355-3357)GGA>TGA	p.G1119*		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1119						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACACCTGCAGGGACCTGTTAG	0.547									Schinzel-Giedion_syndrome				T	42532660	G	T	42532660	4	4	73	1	0	0	0	0	0	1	0	0	14129	1233	43	5	3558	5	SETBP1	18	42532660	Nonsense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	250940	42532660	35544588	924	50102											
ZBTB7C	201501	broad.mit.edu	37	chr18	45567019	45567019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttcctcctcctcctcttCgtcctcctcatcatcatcat	1	20	6	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:45567019C>T	uc002lda.2	-	1	476	c.460G>A	c.(460-462)GAA>AAA	p.E154K	ZBTB7C_uc002ldb.2_Missense_Mutation_p.E154K|ZBTB7C_uc010dnu.2_Missense_Mutation_p.E163K|ZBTB7C_uc010dnv.2_Missense_Mutation_p.E176K|ZBTB7C_uc010dnw.2_Missense_Mutation_p.E154K|ZBTB7C_uc010dnx.1_Missense_Mutation_p.E154K|ZBTB7C_uc010dny.1_Missense_Mutation_p.E154K|ZBTB7C_uc010dnz.1_Missense_Mutation_p.E176K|ZBTB7C_uc010dob.1_Missense_Mutation_p.E154K|ZBTB7C_uc010doc.1_Missense_Mutation_p.E163K|ZBTB7C_uc010dod.1_Missense_Mutation_p.E176K|ZBTB7C_uc010doe.1_Missense_Mutation_p.E154K|ZBTB7C_uc010dof.1_Missense_Mutation_p.E154K|ZBTB7C_uc010dog.1_Missense_Mutation_p.E154K|ZBTB7C_uc010doh.1_Missense_Mutation_p.E163K|ZBTB7C_uc010doi.1_Missense_Mutation_p.E154K|ZBTB7C_uc010doj.1_Missense_Mutation_p.E163K|ZBTB7C_uc010dok.1_Missense_Mutation_p.E203K|ZBTB7C_uc010dol.1_Missense_Mutation_p.E163K|ZBTB7C_uc010doa.1_Missense_Mutation_p.E176K|ZBTB7C_uc010don.1_Missense_Mutation_p.E162K|ZBTB7C_uc010doo.1_Missense_Mutation_p.E154K|ZBTB7C_uc010dop.1_Missense_Mutation_p.E154K|ZBTB7C_uc010doq.1_Missense_Mutation_p.E163K|ZBTB7C_uc010dor.1_Missense_Mutation_p.E176K|ZBTB7C_uc010dos.1_Missense_Mutation_p.E154K|ZBTB7C_uc010dot.1_Missense_Mutation_p.E154K|ZBTB7C_uc010dou.1_Missense_Mutation_p.E163K|ZBTB7C_uc010dom.1_Missense_Mutation_p.E163K	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	154	Glu-rich.|Asp-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						tcctcctcttcgtcctcctca	0.284													T	45567019	C	T	45567019	3	4	73	1	0	0	0	0	1	0	0	0	17552	893	31	1	1407	1	ZBTB7C	18	45567019	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3034359	45567019	32510229	925	50103											
MYO5B	4645	broad.mit.edu	37	chr18	47431168	47431168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttctggagcaccacagcCgctctgatcctccgcaggtg	11	14	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:47431168C>T	uc002leb.2	-	20	2733	c.2445G>A	c.(2443-2445)GCG>GCA	p.A815A	MYO5B_uc002lea.2_5'Flank	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	815	Arg-rich.|IQ 2.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		GCACCACAGCCGCTCTGATCC	0.622													T	47431168	C	T	47431168	2	4	73	1	0	0	0	0	0	0	0	1	10079	639	23	1		1	MYO5B	18	47431168	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1864149	47431168	30646080	926	50104											
CXXC1	30827	broad.mit.edu	37	chr18	47809075	47809075	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatggctgtgcgcacattgCgctcctgctcaaacagctcg	10	14	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:47809075C>A	uc002leq.3	-	15	2592	c.1859G>T	c.(1858-1860)CGC>CTC	p.R620L	MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc010xdi.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc010dox.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.R477L|CXXC1_uc002ler.3_Missense_Mutation_p.R624L|CXXC1_uc010doy.2_Missense_Mutation_p.A608S	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	620					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						GCGCACATTGCGCTCCTGCTC	0.642													A	47809075	C	A	47809075	3	1	73	1	0	0	0	0	1	0	0	0	4097	768	27	5	115	5	CXXC1	18	47809075	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	377907	47809075	30268173	927	50105											
RAX	30062	broad.mit.edu	37	chr18	56939817	56939817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggctcggccgtgcctcccCgggctccttggggcagtagg	17	14	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:56939817C>T	uc002lhx.2	-	2	506	c.319G>A	c.(319-321)GGG>AGG	p.G107R	RAX_uc010dpp.2_Intron	NM_013435	NP_038463	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	107				G -> W (in Ref. 1; AAD23438).	visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		CGTGCCTCCCCGGGCTCCTTG	0.697													T	56939817	C	T	56939817	3	4	73	1	0	0	0	0	1	0	0	0	13096	652	23	1	729	1	RAX	18	56939817	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	9130742	56939817	21137431	928	50106											
SERPINB3	6317	broad.mit.edu	37	chr18	61322973	61322973	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataggaaagggtgattacaaTggaactcttcattagttgaa	10	4	2	2	rs61733404	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:61322973T>C	uc002lji.2	-	8	1235	c.1091A>G	c.(1090-1092)CAT>CGT	p.H364R	SERPINB4_uc002ljg.2_Intron|SERPINB3_uc010dqa.2_Missense_Mutation_p.H312R	NM_006919	NP_008850	P29508	SPB3_HUMAN	serine (or cysteine) proteinase inhibitor, clade	364					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GTGATTACAATGGAACTCTTC	0.458													C	61322973	T	C	61322973	3	2	73	1	0	0	0	0	1	0	0	0	14102	1464	51	3	85	3	SERPINB3	18	61322973	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	4383156	61322973	16754275	929	50107											
RTTN	25914	broad.mit.edu	37	chr18	67715346	67715346	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgcttcttcggtcaagAgaacagaaaggaattgcaag	10	7	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:67715346A>C	uc002lkp.2	-	40	5470	c.5402T>G	c.(5401-5403)CTC>CGC	p.L1801R	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.L889R|RTTN_uc010dqp.2_Missense_Mutation_p.L53R	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1801							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				TTCGGTCAAGAGAACAGAAAG	0.443													C	67715346	A	C	67715346	3	2	73	1	0	0	0	0	1	0	0	0	13737	304	11	5	1318	5	RTTN	18	67715346	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	6392373	67715346	10361902	930	50108											
SALL3	27164	broad.mit.edu	37	chr18	76753340	76753340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgagcggcccttcaagtGcaacatctgcgggaaccgct	13	13	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:76753340G>A	uc002lmt.2	+	2	1349	c.1349G>A	c.(1348-1350)TGC>TAC	p.C450Y	SALL3_uc010dra.2_Missense_Mutation_p.C57Y	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	450	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCTTCAAGTGCAACATCTGC	0.592													A	76753340	G	A	76753340	3	1	73	1	0	0	0	0	1	0	0	0	13812	1319	46	2	1355	2	SALL3	18	76753340	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	9037994	76753340	1323908	931	50109											
SALL3	27164	broad.mit.edu	37	chr18	76754516	76754516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatctccagcattgccgCcctggagaaccagatgaaga	11	12	2	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:76754516C>T	uc002lmt.2	+	2	2525	c.2525C>T	c.(2524-2526)GCC>GTC	p.A842V	SALL3_uc010dra.2_Missense_Mutation_p.A449V	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	842					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		AGCATTGCCGCCCTGGAGAAC	0.672													T	76754516	C	T	76754516	3	4	73	1	0	0	0	0	1	0	0	0	13812	739	26	2	2531	2	SALL3	18	76754516	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1176	76754516	1322732	932	50110											
KCNG2	26251	broad.mit.edu	37	chr18	77659548	77659548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacggcgacatggtcccgcGcagcctgcccgggcaggtgg	16	15	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:77659548G>A	uc010xfl.1	+	2	1133	c.1133G>A	c.(1132-1134)CGC>CAC	p.R378H		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	378					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		ATGGTCCCGCGCAGCCTGCCC	0.687													A	77659548	G	A	77659548	3	1	73	1	0	0	0	0	1	0	0	0	8028	1087	38	1	1139	1	KCNG2	18	77659548	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	905032	77659548	417700	933	50111											
KCNG2	26251	broad.mit.edu	37	chr18	77659577	77659577	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcaggtggtggcgctcAgcagcatcctcagcggcatc	15	14	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:77659577A>G	uc010xfl.1	+	2	1162	c.1162A>G	c.(1162-1164)AGC>GGC	p.S388G		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	388	Helical; Name=Segment S6; (Potential).				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GGTGGCGCTCAGCAGCATCCT	0.662													G	77659577	A	G	77659577	3	3	73	1	0	0	0	0	1	0	0	0	8028	188	7	3	1168	3	KCNG2	18	77659577	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	29	77659577	417671	934	50112											
ADNP2	22850	broad.mit.edu	37	chr18	77894261	77894261	+	Frame_Shift_Del	DEL	C	C	-													ccctggaagcctcactcattCcccccctgctgctggccaat							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:77894260_77894260TC>T	uc002lnw.3	+	3	1419	c.964_964TC>T	c.(964-966)tccfs	p.S322fs		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	322	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A325fs*59(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CCTCACTCATTCCCCCCCTGC	0.642													-	77894261	C	-	77894261	7	5	73	1	0	1	0	1	0	0	0	0	324	855	30	0	975	0	ADNP2	18	77894261	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	234684	77894261	182987	935	50113											
ABCA7	10347	broad.mit.edu	37	chr19	1058906	1058906	+	Frame_Shift_Del	DEL	G	G	-													gtggtccaaggagccacccaGggggatgtgttggtgctgag							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:1058905_1058905AG>A	uc002lqw.4	+	38	5597	c.5366_5366AG>A	c.(5365-5367)cagfs	p.Q1789fs	ABCA7_uc002lqy.3_Frame_Shift_Del_p.Q242fs|ABCA7_uc010dsc.3_Non-coding_Transcript	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1789					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCCACCCAGGGGGATGTG	0.622													-	1058906	G	-	1058906	7	5	73	1	0	1	0	1	0	0	0	0	37	991	35	0	5517	0	ABCA7	19	1058906	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08		1058906	58070077	936	50114											
MIDN	90007	broad.mit.edu	37	chr19	1257208	1257208	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccggcttgggcctcgacttCgaggactccgtgtggaagcc	14	13	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:1257208C>T	uc002lrp.2	+	8	1859	c.1344C>T	c.(1342-1344)TTC>TTT	p.F448F		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	448						nucleolus					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTCGACTTCGAGGACTCCG	0.672													T	1257208	C	T	1257208	2	4	73	1	0	0	0	0	0	0	0	1	9579	883	31	1		1	MIDN	19	1257208	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	198302	1257208	57871775	937	50115											
ZFR2	23217	broad.mit.edu	37	chr19	3823259	3823259	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacctcctccacatattcCgggcccaccggctgcgcatc	7	19	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:3823259C>T	uc002lyw.2	-	8	1368	c.1356G>A	c.(1354-1356)CCG>CCA	p.P452P	ZFR2_uc010xhx.1_RNA	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	452						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CCACATATTCCGGGCCCACCG	0.617													T	3823259	C	T	3823259	2	4	73	1	0	0	0	0	0	0	0	1	17657	639	23	1		1	ZFR2	19	3823259	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2566051	3823259	55305724	938	50116											
PIAS4	51588	broad.mit.edu	37	chr19	4037644	4037644	+	Frame_Shift_Del	DEL	C	C	-													cgccaatgggctcctgcccgCccccagcgtcaacgggagcg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:4037643_4037643GC>G	uc002lzg.3	+	10	1313	c.1303_1303GC>G	c.(1303-1305)gccfs	p.A435fs		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	Homo sapiens protein inhibitor of activated STAT, 4 (PIAS4), mRNA.	435					Wnt receptor signaling pathway|positive regulation of protein sumoylation|transcription, DNA-dependent	PML body|cytoplasm	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCTGCCCGCCCCCAGCGT	0.682													-	4037644	C	-	4037644	7	5	73	1	0	1	0	1	0	0	0	0	11878	739	26	0	1346	0	PIAS4	19	4037644	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	214385	4037644	55091339	939	50117											
SEMA6B	10501	broad.mit.edu	37	chr19	4548310	4548310	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtctcaaactcctccaggaaGacactgagcccagacgtccc	8	16	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:4548310G>A	uc010duc.1	-	12	1457	c.1419C>T	c.(1417-1419)GTC>GTT	p.V473V	SEMA6B_uc010dud.2_Silent_p.V473V|SEMA6B_uc010xih.1_Silent_p.V473V	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	473	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCAGGAAGACACTGAGCC	0.627													A	4548310	G	A	4548310	2	1	73	1	0	0	0	0	0	0	0	1	14040	929	33	4		4	SEMA6B	19	4548310	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	510666	4548310	54580673	940	50118											
TICAM1	148022	broad.mit.edu	37	chr19	4818093	4818093	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcagccagcaggtggtaCaagcgggccacagcccagga	13	14	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:4818093C>T	uc002mbi.2	-	2	548	c.297G>A	c.(295-297)TTG>TTA	p.L99L		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	99					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GCAGGTGGTACAAGCGGGCCA	0.716													T	4818093	C	T	4818093	2	4	73	1	0	0	0	0	0	0	0	1	15889	477	17	4		4	TICAM1	19	4818093	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	269783	4818093	54310890	941	50119											
KDM4B	23030	broad.mit.edu	37	chr19	5039897	5039897	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacgtatgatgacatcgaCgacgtggtgatcccggcgcc	13	12	0	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:5039897C>T	uc002mbq.3	+	4	418	c.192C>T	c.(190-192)GAC>GAT	p.D64D	KDM4B_uc010xil.1_Silent_p.D64D|KDM4B_uc010xim.1_Silent_p.D64D	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	64					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						ATGACATCGACGACGTGGTGA	0.612													T	5039897	C	T	5039897	2	4	73	1	0	0	0	0	0	0	0	1	8129	535	19	1		1	KDM4B	19	5039897	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	221804	5039897	54089086	942	50120											
SAFB	6294	broad.mit.edu	37	chr19	5661753	5661753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcgcgaggagctgaggcGccagcaggaactgcgctatg	17	10	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:5661753G>A	uc002mcf.2	+	15	2140	c.2087G>A	c.(2086-2088)CGC>CAC	p.R696H	SAFB_uc002mcg.2_Missense_Mutation_p.R696H|SAFB_uc002mce.3_Missense_Mutation_p.R695H|SAFB_uc010xir.1_Missense_Mutation_p.R695H|SAFB_uc010xis.1_Missense_Mutation_p.R627H|SAFB_uc010xit.1_Missense_Mutation_p.R538H|SAFB_uc010xiu.1_Missense_Mutation_p.R495H	NM_002967	NP_002958	Q15424	SAFB1_HUMAN	scaffold attachment factor B	696	Interaction with SAFB2.|Interaction with POLR2A.|Arg-rich.|Glu-rich.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			ovary(1)|liver(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GAGCTGAGGCGCCAGCAGGAA	0.701													A	5661753	G	A	5661753	3	1	73	1	0	0	0	0	1	0	0	0	13806	1087	38	1	2145	1	SAFB	19	5661753	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	621856	5661753	53467230	943	50121											
SAFB	6294	broad.mit.edu	37	chr19	5668284	5668284	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggcccagcgatgcccgCttcactcgccgctactgagt	11	16	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:5668284C>T	uc002mcf.2	+	21	2783	c.2730C>T	c.(2728-2730)CGC>CGT	p.R910R	SAFB_uc002mcg.2_Silent_p.R912R|SAFB_uc002mce.3_Silent_p.R911R|SAFB_uc010xir.1_Silent_p.R909R|SAFB_uc010xis.1_Silent_p.R843R|SAFB_uc010xit.1_Silent_p.R754R|SAFB_uc010xiu.1_Silent_p.R711R	NM_002967	NP_002958	Q15424	SAFB1_HUMAN	scaffold attachment factor B	910	Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			ovary(1)|liver(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GCGATGCCCGCTTCACTCGCC	0.592													T	5668284	C	T	5668284	2	4	73	1	0	0	0	0	0	0	0	1	13806	784	28	2		2	SAFB	19	5668284	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	6531	5668284	53460699	944	50122											
C19orf70	125988	broad.mit.edu	37	chr19	5679654	5679654	+	Frame_Shift_Del	DEL	G	G	-													tggctgaactggtacatggcGggggggaccacctccccagc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:5679653_5679653CG>C	uc002mch.1	-	1	565	c.151_151CG>G	c.(151-153)gccfs	p.A51fs	C19orf70_uc002mci.1_3'UTR|HSD11B1L_uc002mcj.3_5'Flank|HSD11B1L_uc002mck.3_5'Flank|HSD11B1L_uc002mcu.3_5'Flank|HSD11B1L_uc002mcn.3_5'Flank|HSD11B1L_uc002mco.3_5'Flank|HSD11B1L_uc002mcp.3_5'Flank|HSD11B1L_uc002mcr.3_5'Flank|HSD11B1L_uc002mcq.3_5'Flank|HSD11B1L_uc010dug.3_5'Flank|HSD11B1L_uc002mct.3_5'Flank|HSD11B1L_uc002mcl.3_5'Flank	NM_205767	NP_991330	Q5XKP0	QIL1_HUMAN	Homo sapiens chromosome 19 open reading frame 70 (C19orf70), mRNA.	51							protein binding			endometrium(1)|lung(1)	2						TGGTACATGGCGGGGGGGACC	0.667													-	5679654	G	-	5679654	7	5	73	1	0	1	0	1	0	0	0	0	1947	1103	39	0	218	0	C19orf70	19	5679654	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	11370	5679654	53449329	945	50123											
DENND1C	79958	broad.mit.edu	37	chr19	6468936	6468936	+	Frame_Shift_Del	DEL	C	C	-													gggctggggccctcagagagCcccccctctgcaggacagag							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:6468936delC	uc002mfe.2	-	20	1528	c.1436delG	c.(1435-1437)GGCfs	p.G479fs	DENND1C_uc002mfb.2_Frame_Shift_Del_p.G29fs|DENND1C_uc002mfc.2_Frame_Shift_Del_p.G29fs|DENND1C_uc002mfd.2_Frame_Shift_Del_p.G29fs|DENND1C_uc010xje.1_Frame_Shift_Del_p.G435fs	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	479						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1						CCTCAGAGAGCCCCCCCTCTG	0.627													-	6468936	C	-	6468936	7	5	73	1	0	1	0	1	0	0	0	0	4428	739	26	0	985	0	DENND1C	19	6468936	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	789282	6468936	52660047	946	50124											
C3	718	broad.mit.edu	37	chr19	6697481	6697481	+	Frame_Shift_Del	DEL	G	G	-													ggaacggacaacgaggacttGggggggatggttacggtctg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:6697480_6697480TG>T	uc002mfm.3	-	20	2733	c.2671_2671CA>A	c.(2671-2673)aagfs	p.K891fs		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	891					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AACGAGGACTTGGGGGGGATG	0.577													-	6697481	G	-	6697481	7	5	73	1	0	1	0	1	0	0	0	0	2204	1335	47	0	2405	0	C3	19	6697481	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	228545	6697481	52431502	947	50125											
CLEC4G	339390	broad.mit.edu	37	chr19	7796189	7796189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtggccgtcaagcagcgcCgcgcgctccgtggaggctga	16	14	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:7796189C>T	uc002mhp.3	-	3	252	c.183G>A	c.(181-183)GCG>GCA	p.A61A		NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	61	Extracellular (Potential).					integral to membrane	protein binding|sugar binding				0						CAAGCAGCGCCGCGCGCTCCG	0.731													T	7796189	C	T	7796189	2	4	73	1	0	0	0	0	0	0	0	1	3517	639	23	1		1	CLEC4G	19	7796189	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1098708	7796189	51332794	948	50126											
MAP2K7	5609	broad.mit.edu	37	chr19	7976149	7976149	+	Frame_Shift_Del	DEL	C	C	-													ctgcagcccgagcgcattgaCcccccagaccccaccaagcc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:7976148_7976148AC>A	uc002mit.3	+	7	934	c.869_869AC>A	c.(868-870)gacfs	p.D290fs	MAP2K7_uc002miv.2_Frame_Shift_Del_p.D290fs|MAP2K7_uc010xka.1_Non-coding_Transcript|MAP2K7_uc010dvv.3_Frame_Shift_Del_p.D165fs|MAP2K7_uc010xkb.2_Frame_Shift_Del_p.D290fs	NM_145185	NP_660186	O14733	MP2K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA.	290	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D290D(1)		breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	GAGCGCATTGACCCCCCAGAC	0.701													-	7976149	C	-	7976149	7	5	73	1	0	1	0	1	0	0	0	0	9242	506	18	0	900	0	MAP2K7	19	7976149	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	179960	7976149	51152834	949	50127											
MAP2K7	5609	broad.mit.edu	37	chr19	7977071	7977073	+	In_Frame_Del	DEL	AAG	AAG	-													ggaagagaccaaagtataatAagctacttgtgagtacctga					rs139511301	by1000genomes	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:7977071_7977073delAAG	uc002mit.2	+	10	1182_1184	c.1117_1119delAAG	c.(1117-1119)AAGdel	p.K373del	MAP2K7_uc002miv.2_In_Frame_Del_p.K380del|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_In_Frame_Del_p.K380del|MAP2K7_uc010dvv.2_In_Frame_Del_p.K248del	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	373	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	AAAGTATAATAAGCTACTTGTGA	0.596													-	7977073	AAG	-	7977071	7	5	73	1	0	1	0	1	0	0	0	0	9242	363	13	0	1155	0	MAP2K7	19	7977071	In_Frame_Del	DEL	AAG	TCGA-BR-8360-01A-11D-2340-08	922	7977071	51151912	950	50128											
MYO1F	4542	broad.mit.edu	37	chr19	8616964	8616964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttcattttgcatgaccaCgcgggacttctccagcaaga	8	11	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:8616964C>T	uc002mkg.2	-	7	703	c.589G>A	c.(589-591)GTG>ATG	p.V197M	MYO1F_uc002mkh.2_Missense_Mutation_p.V197M|MYO1F_uc010xkf.1_Missense_Mutation_p.V197M	NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	197	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						TGCATGACCACGCGGGACTTC	0.577													T	8616964	C	T	8616964	3	4	73	1	0	0	0	0	1	0	0	0	10073	536	19	1	2795	1	MYO1F	19	8616964	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	639893	8616964	50512019	951	50129											
MYO1F	4542	broad.mit.edu	37	chr19	8619568	8619568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaggtcgatctcacggtcGgtgaagtagggcatctgctt	14	8	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:8619568G>A	uc002mkg.2	-	3	315	c.201C>T	c.(199-201)ACC>ACT	p.T67T	MYO1F_uc002mkh.2_Silent_p.T67T|MYO1F_uc010xkf.1_Silent_p.T67T	NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	67	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						TCTCACGGTCGGTGAAGTAGG	0.612													A	8619568	G	A	8619568	2	1	73	1	0	0	0	0	0	0	0	1	10073	1103	39	1		1	MYO1F	19	8619568	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2604	8619568	50509415	952	50130											
MBD3L1	85509	broad.mit.edu	37	chr19	8953876	8953876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcaatagcactgattgcGgatggactcgctaatgaggc	12	10	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:8953876G>A	uc002mko.2	+	1	608	c.522G>A	c.(520-522)GCG>GCA	p.A174A		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						CACTGATTGCGGATGGACTCG	0.443													A	8953876	G	A	8953876	2	1	73	1	0	0	0	0	0	0	0	1	9345	1103	39	1		1	MBD3L1	19	8953876	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	334308	8953876	50175107	953	50131											
MUC16	94025	broad.mit.edu	37	chr19	9083531	9083531	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagttttcagaactctgacTgaatacaagggaaccagtag	10	7	2	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:9083531T>G	uc002mkp.2	-	1	8488	c.8284A>C	c.(8284-8286)AGT>CGT	p.S2762R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2762	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GAACTCTGACTGAATACAAGG	0.493													G	9083531	T	G	9083531	3	3	73	1	0	0	0	0	1	0	0	0	9973	1580	55	5	35575	5	MUC16	19	9083531	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	129655	9083531	50045452	954	50132											
OR7G2	390882	broad.mit.edu	37	chr19	9213400	9213400	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagaagaagagcgggaTttccaggtctgtgcagaagg	14	7	2	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:9213400T>G	uc010xkk.1	-	1	583	c.583A>C	c.(583-585)ATC>CTC	p.I195L		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G,	174	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AAGAGCGGGATTTCCAGGTCT	0.478													G	9213400	T	G	9213400	3	3	73	1	0	0	0	0	1	0	0	0	11223	1493	52	5	456	5	OR7G2	19	9213400	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	129869	9213400	49915583	955	50133											
CDKN2D	1032	broad.mit.edu	37	chr19	10677793	10677793	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcctgagcccctctctGcagtgccagctccaagggtg	13	14	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:10677793G>A	uc002mpa.2	-	2	744	c.442C>T	c.(442-444)CAG>TAG	p.Q148*	KRI1_uc002mox.1_5'Flank|KRI1_uc002moy.1_5'Flank|CDKN2D_uc002mpb.2_Nonsense_Mutation_p.Q148*	NM_001800	NP_001791	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D	148	ANK 4.				anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding				0			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GCCCCTCTCTGCAGTGCCAGC	0.612									Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System				A	10677793	G	A	10677793	4	1	73	1	0	0	0	0	0	1	0	0	3166	1328	46	2	62	2	CDKN2D	19	10677793	Nonsense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1464393	10677793	48451190	956	50134											
ELAVL3	1995	broad.mit.edu	37	chr19	11565638	11565638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaggcccacgcccgccagGccgctcataccatcgatggc	11	18	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:11565638G>A	uc002mry.1	-	7	1187	c.807C>T	c.(805-807)GGC>GGT	p.G269G	ELAVL3_uc002mrx.1_Silent_p.G262G	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	269					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)|skin(1)	3						CGCCCGCCAGGCCGCTCATAC	0.577													A	11565638	G	A	11565638	2	1	73	1	0	0	0	0	0	0	0	1	5051	1190	42	2		2	ELAVL3	19	11565638	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	887845	11565638	47563345	957	50135											
ZNF700	90592	broad.mit.edu	37	chr19	12059372	12059372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagaaagccttcaggtatcGcccatccattagaacacaag	7	11	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:12059372G>A	uc002msu.2	+	4	659	c.533G>A	c.(532-534)CGC>CAC	p.R178H	ZNF700_uc010xme.1_Missense_Mutation_p.R196H|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTCAGGTATCGCCCATCCATT	0.403													A	12059372	G	A	12059372	3	1	73	1	0	0	0	0	1	0	0	0	18101	1087	38	1	547	1	ZNF700	19	12059372	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	493734	12059372	47069611	958	50136											
ZNF878	729747	broad.mit.edu	37	chr19	12155504	12155504	+	Frame_Shift_Del	DEL	A	A	-													tctttttaacgaactgggagAaaaaaaggctttcccacata							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:12155503_12155503GA>G	uc021upl.1	-	3	879	c.713_713TC>C	c.(712-714)tctfs	p.S238fs	ZNF878_uc002mta.1_Frame_Shift_Del_p.S285fs	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CGAACTGGGAGAAAAAAAGGC	0.393													-	12155504	A	-	12155504	7	5	73	1	0	1	0	1	0	0	0	0	18193	246	9	0	887	0	ZNF878	19	12155504	Frame_Shift_Del	DEL	A	TCGA-BR-8360-01A-11D-2340-08	96132	12155504	46973479	959	50137											
DAND5	199699	broad.mit.edu	37	chr19	13084268	13084268	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgctttggtcattgctcCtctctctacatccctggctc	7	15	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:13084268C>A	uc002mwc.1	+	2	433	c.390C>A	c.(388-390)TCC>TCA	p.S130S	DAND5_uc010dyz.1_3'UTR	NM_152654	NP_689867	Q8N907	DAND5_HUMAN	dante precursor	130	CTCK.					extracellular region				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			GTCATTGCTCCTCTCTCTACA	0.627													A	13084268	C	A	13084268	2	1	73	1	0	0	0	0	0	0	0	1	4230	668	24	5		5	DAND5	19	13084268	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	928764	13084268	46044715	960	50138											
CC2D1A	54862	broad.mit.edu	37	chr19	14034616	14034616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgagcaaaggaccttcagCgtcatcaagtaaggctcctg	10	10	3	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:14034616C>T	uc002mxo.2	+	17	2231	c.1932C>T	c.(1930-1932)AGC>AGT	p.S644S	CC2D1A_uc002mxp.2_Silent_p.S644S|CC2D1A_uc010dzh.2_Silent_p.S213S|CC2D1A_uc002mxq.1_Silent_p.S289S	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	644	C2.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGACCTTCAGCGTCATCAAGT	0.622													T	14034616	C	T	14034616	2	4	73	1	0	0	0	0	0	0	0	1	2726	767	27	1		1	CC2D1A	19	14034616	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	950348	14034616	45094367	961	50139											
DCAF15	90379	broad.mit.edu	37	chr19	14067019	14067019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctacgtcagcaccgtggcCgtgccaccgccaggccgctg	12	17	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:14067019C>T	uc002mxt.2	+	5	564	c.558C>T	c.(556-558)GCC>GCT	p.A186A	PODNL1_uc010xnj.1_5'Flank|PODNL1_uc002mxs.2_5'Flank	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	186										central_nervous_system(1)	1						GCACCGTGGCCGTGCCACCGC	0.677													T	14067019	C	T	14067019	2	4	73	1	0	0	0	0	0	0	0	1	4267	639	23	1		1	DCAF15	19	14067019	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	32403	14067019	45061964	962	50140											
PKN1	5585	broad.mit.edu	37	chr19	14581440	14581440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgacagcatcgtcaacgaCgaggttcgctacccccgctt	9	15	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:14581440C>T	uc002myp.2	+	20	2658	c.2490C>T	c.(2488-2490)GAC>GAT	p.D830D	PKN1_uc002myq.2_Silent_p.D836D|PKN1_uc002myr.2_Silent_p.D170D	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	830	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						TCGTCAACGACGAGGTTCGCT	0.682													T	14581440	C	T	14581440	2	4	73	1	0	0	0	0	0	0	0	1	11979	535	19	1		1	PKN1	19	14581440	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	514421	14581440	44547543	963	50141											
CYP4F22	126410	broad.mit.edu	37	chr19	15648181	15648181	+	Frame_Shift_Del	DEL	C	C	-													gccctccacagctgccatcgCccccaaggatgacctcttct					rs139235894		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:15648181delC	uc002nbh.3	+	5	544	c.377delC	c.(376-378)GCCfs	p.A126fs		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	126						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2						GCTGCCATCGCCCCCAAGGAT	0.408													-	15648181	C	-	15648181	7	5	73	1	0	1	0	1	0	0	0	0	4189	739	26	0	387	0	CYP4F22	19	15648181	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	1066741	15648181	43480802	964	50142											
CYP4F22	126410	broad.mit.edu	37	chr19	15651358	15651358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcgacttcatttactacCgctcggcggatgggcggagg	13	12	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:15651358C>T	uc002nbh.3	+	8	936	c.769C>T	c.(769-771)CGC>TGC	p.R257C		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	257						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2						CATTTACTACCGCTCGGCGGA	0.582													T	15651358	C	T	15651358	3	4	73	1	0	0	0	0	1	0	0	0	4189	652	23	1	791	1	CYP4F22	19	15651358	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3177	15651358	43477625	965	50143											
SIN3B	23309	broad.mit.edu	37	chr19	16980624	16980624	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggccttcggggatgccccGgccactgagcagccacccct	14	17	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:16980624G>A	uc002ney.1	+	14	2270	c.2256G>A	c.(2254-2256)CCG>CCA	p.P752P	SIN3B_uc002nez.1_Silent_p.P720P|SIN3B_uc010xpi.1_Silent_p.P310P	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	752					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						GGGATGCCCCGGCCACTGAGC	0.662													A	16980624	G	A	16980624	2	1	73	1	0	0	0	0	0	0	0	1	14326	1103	39	1		1	SIN3B	19	16980624	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1329266	16980624	42148359	966	50144											
CPAMD8	27151	broad.mit.edu	37	chr19	17038831	17038831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacgcaccgatgatggaggCggtggctcgctcagacccag	15	12	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:17038831C>T	uc002nfb.2	-	25	3531	c.3499G>A	c.(3499-3501)GCC>ACC	p.A1167T		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1120						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						ATGATGGAGGCGGTGGCTCGC	0.622													T	17038831	C	T	17038831	3	4	73	1	0	0	0	0	1	0	0	0	3795	768	27	1	2371	1	CPAMD8	19	17038831	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	58207	17038831	42090152	967	50145											
PIK3R2	5296	broad.mit.edu	37	chr19	18273010	18273010	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catttgttttcctgtcccccAgcgctgccgcctaaaccccc	6	19	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:18273010A>G	uc002nia.1	+	8	1414	c.902_splice	c.e8-2	p.A301_splice	PIK3R2_uc002nib.1_Splice_Site|PIK3R2_uc010ebi.1_Splice_Site	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2						fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						CCTGTCCCCCAGCGCTGCCGC	0.627													G	18273010	A	G	18273010	5	3	73	1	0	0	0	0	0	0	1	0	11919	202	7	3	926	3	PIK3R2	19	18273010	Splice_Site	SNP	A	TCGA-BR-8360-01A-11D-2340-08	1234179	18273010	40855973	968	50146											
LRRC25	126364	broad.mit.edu	37	chr19	18502843	18502843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatccattggggcctggCccagtgactgcaggttacag	12	12	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:18502843C>T	uc002niw.2	-	2	1514	c.872G>A	c.(871-873)GGC>GAC	p.G291D	LRRC25_uc002nix.2_Missense_Mutation_p.G291D	NM_145256	NP_660299	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25 precursor	291	Cytoplasmic (Potential).					integral to membrane					0						TGGGGCCTGGCCCAGTGACTG	0.532													T	18502843	C	T	18502843	3	4	73	1	0	0	0	0	1	0	0	0	8980	739	26	2	49	2	LRRC25	19	18502843	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	229833	18502843	40626140	969	50147											
NCAN	1463	broad.mit.edu	37	chr19	19338531	19338531	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcccacaacacctgagtcccCcagggcagacttcagagaaa	9	15	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:19338531C>G	uc002nlz.2	+	8	2201	c.2102C>G	c.(2101-2103)CCC>CGC	p.P701R	NCAN_uc010ecc.1_Missense_Mutation_p.P265R	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	701					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			CCTGAGTCCCCCAGGGCAGAC	0.587													G	19338531	C	G	19338531	3	3	73	1	0	0	0	0	1	0	0	0	10204	623	22	5	2128	5	NCAN	19	19338531	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	835688	19338531	39790452	970	50148											
ZNF14	7561	broad.mit.edu	37	chr19	19822525	19822525	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatttccagtgtgaatttttTcatgttctcgaagggaactt	8	6	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:19822525T>C	uc002nnk.1	-	4	1719	c.1565A>G	c.(1564-1566)GAA>GGA	p.E522G		NM_021030	NP_066358	P17017	ZNF14_HUMAN	zinc finger protein 14	522	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Renal(1328;0.0474)				GTGAATTTTTTCATGTTCTCG	0.408													C	19822525	T	C	19822525	3	2	73	1	0	0	0	0	1	0	0	0	17725	1783	62	3	367	3	ZNF14	19	19822525	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	483994	19822525	39306458	971	50149											
ZNF626	199777	broad.mit.edu	37	chr19	20808310	20808310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attataaccttctttgtgcaCcttacactcatccacactta	2	13	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:20808310C>T	uc002npb.1	-	4	523	c.373G>A	c.(373-375)GTG>ATG	p.V125M	ZNF626_uc002npc.1_Missense_Mutation_p.V49M	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TCTTTGTGCACCTTACACTCA	0.318													T	20808310	C	T	20808310	3	4	73	1	0	0	0	0	1	0	0	0	18047	507	18	4	1217	4	ZNF626	19	20808310	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	985785	20808310	38320673	972	50150											
CHST8	64377	broad.mit.edu	37	chr19	34263898	34263898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggccctgcaaaggcagcGcacctacgacttctactaca	8	16	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:34263898G>A	uc002nus.3	+	5	1710	c.1205G>A	c.(1204-1206)CGC>CAC	p.R402H	CHST8_uc002nut.3_Missense_Mutation_p.R402H|CHST8_uc002nuu.2_Missense_Mutation_p.R402H	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	402	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					CAAAGGCAGCGCACCTACGAC	0.622													A	34263898	G	A	34263898	3	1	73	1	0	0	0	0	1	0	0	0	3410	1087	38	1	1215	1	CHST8	19	34263898	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	13455588	34263898	24865085	973	50151											
LSR	51599	broad.mit.edu	37	chr19	35741230	35741230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcagctcctgccagggCcatccaggtgaccgtgtcca	11	17	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:35741230C>T	uc002nyl.2	+	2	489	c.266C>T	c.(265-267)GCC>GTC	p.A89V	LSR_uc002nym.2_Missense_Mutation_p.A89V|LSR_uc002nyn.2_Missense_Mutation_p.A89V|LSR_uc002nyo.2_Missense_Mutation_p.A89V|LSR_uc010xsr.1_Missense_Mutation_p.A89V|LSR_uc002nyp.2_Missense_Mutation_p.A52V	NM_205834	NP_991403	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	89	Extracellular (Potential).|Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCTGCCAGGGCCATCCAGGTG	0.612													T	35741230	C	T	35741230	3	4	73	1	0	0	0	0	1	0	0	0	9064	739	26	2	272	2	LSR	19	35741230	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1477332	35741230	23387753	974	50152											
USF2	7392	broad.mit.edu	37	chr19	35761435	35761435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgatttgcctatttcccagCgtccagtgtgggagatacta	10	10	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:35761435C>T	uc002nyq.1	+	5	624	c.515C>T	c.(514-516)GCG>GTG	p.A172V	USF2_uc010xss.1_Missense_Mutation_p.A172V|USF2_uc002nyr.1_Missense_Mutation_p.A105V|USF2_uc002nys.1_5'UTR|USF2_uc002nyt.1_Intron|USF2_uc002nyu.1_5'UTR|USF2_uc002nyv.1_5'UTR	NM_003367	NP_003358	Q15853	USF2_HUMAN	upstream stimulatory factor 2 isoform 1	172					lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity				0	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TATTTCCCAGCGTCCAGTGTG	0.597													T	35761435	C	T	35761435	3	4	73	1	0	0	0	0	1	0	0	0	17030	768	27	1	533	1	USF2	19	35761435	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	20205	35761435	23367548	975	50153											
MAG	4099	broad.mit.edu	37	chr19	35791272	35791272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggccgagaatgcctatgGccaggacaaccgcaccgtgg	13	14	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:35791272G>A	uc002nyy.1	+	6	1084	c.935G>A	c.(934-936)GGC>GAC	p.G312D	MAG_uc002nyx.1_Missense_Mutation_p.G312D|MAG_uc010eds.1_Missense_Mutation_p.G287D|MAG_uc002nyz.1_Missense_Mutation_p.G312D	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	312	Ig-like C2-type 2.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AATGCCTATGGCCAGGACAAC	0.662													A	35791272	G	A	35791272	3	1	73	1	0	0	0	0	1	0	0	0	9162	1203	42	2	949	2	MAG	19	35791272	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	29837	35791272	23337711	976	50154											
FFAR2	2867	broad.mit.edu	37	chr19	35941540	35941541	+	Frame_Shift_Ins	INS	-	-	G													gaggcaaagacacagcagagINSgggacaaatgaggacagggg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:35941539_35941540A>AG	uc002nzg.2	+	1	1003_1004	c.923_924A>AG	c.(922-924)gagfs	p.E308fs	FFAR2_uc010eea.3_Frame_Shift_Ins_p.E308fs	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	308						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GACACAGCAGAGGGGACAAATG	0.579													G	35941541	-	G	35941540	7	5	73	1	0	1	1	0	0	0	0	0	5828	991	35	0	926	0	FFAR2	19	35941540	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	150268	35941540	23187443	977	50155											
GAPDHS	26330	broad.mit.edu	37	chr19	36027833	36027833	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccactgcctcctcacccCgctactcctcctcctaagat	3	22	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:36027833C>T	uc002oaf.1	+	2	302	c.186C>T	c.(184-186)CCC>CCT	p.P62P		NM_014364	NP_055179	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase,	62					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	CTCCTCACCCCGCTACTCCTC	0.592													T	36027833	C	T	36027833	2	4	73	1	0	0	0	0	0	0	0	1	6237	639	23	1		1	GAPDHS	19	36027833	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	86293	36027833	23101150	978	50156											
MLL4	9757	broad.mit.edu	37	chr19	36216189	36216189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctctgtgccagggggCcccccgatggtgtgcttgct	13	15	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:36216189C>T	uc010eei.2	+	12	3597	c.3597C>T	c.(3595-3597)GGC>GGT	p.G1199G		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1199					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCCAGGGGGCCCCCCGATGG	0.602													T	36216189	C	T	36216189	2	4	73	1	0	0	0	0	0	0	0	1	9623	726	26	2		2	MLL4	19	36216189	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	188356	36216189	22912794	979	50157											
LRFN3	79414	broad.mit.edu	37	chr19	36430331	36430331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacacccctgcccgcgatgGccatcctcccgttgctcctg	10	19	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:36430331G>A	uc002oco.2	+	2	456	c.4G>A	c.(4-6)GCC>ACC	p.A2T		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	2					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCCGCGATGGCCATCCTCCC	0.697													A	36430331	G	A	36430331	3	1	73	1	0	0	0	0	1	0	0	0	8939	1203	42	2	6	2	LRFN3	19	36430331	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	214142	36430331	22698652	980	50158											
ZNF569	148266	broad.mit.edu	37	chr19	37917233	37917233	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggatccaatctcttccaCtcctcctgagtgaagtcgat	8	13	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:37917233C>T	uc002ogi.2	-	4	621	c.63G>A	c.(61-63)GAG>GAA	p.E21E	ZNF569_uc002ogh.2_Intron|ZNF569_uc002ogj.2_Silent_p.E45E	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATCTCTTCCACTCCTCCTGAG	0.398													T	37917233	C	T	37917233	2	4	73	1	0	0	0	0	0	0	0	1	17997	564	20	4		4	ZNF569	19	37917233	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1486902	37917233	21211750	981	50159											
SIPA1L3	23094	broad.mit.edu	37	chr19	38621191	38621191	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgcttcggcggaacgggctCgggcagctgggcttccacgt	16	13	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:38621191C>T	uc002ohk.2	+	10	3431	c.2922C>T	c.(2920-2922)CTC>CTT	p.L974L		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	974	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGAACGGGCTCGGGCAGCTGG	0.667													T	38621191	C	T	38621191	2	4	73	1	0	0	0	0	0	0	0	1	14331	871	31	1		1	SIPA1L3	19	38621191	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	703958	38621191	20507792	982	50160											
ACTN4	81	broad.mit.edu	37	chr19	39191313	39191313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaacattgatgaggacttccGagacgggctcaagctcatgc	12	10	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:39191313G>A	uc002oja.1	+	2	295	c.236G>A	c.(235-237)CGA>CAA	p.R79Q	ACTN4_uc010egc.1_Missense_Mutation_p.R79Q	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	79	Actin-binding.|CH 1.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAGGACTTCCGAGACGGGCTC	0.607													A	39191313	G	A	39191313	3	1	73	1	0	0	0	0	1	0	0	0	207	1058	37	1	242	1	ACTN4	19	39191313	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	570122	39191313	19937670	983	50161											
C19orf47	126526	broad.mit.edu	37	chr19	40832311	40832311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgggcatgttgatgacGtacttcccctccatctcagc	8	14	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:40832311G>A	uc002oni.3	-	7	634	c.633C>T	c.(631-633)TAC>TAT	p.Y211Y	C19orf47_uc002ong.2_Silent_p.Y70Y|C19orf47_uc002onh.2_Silent_p.Y144Y	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	hypothetical protein LOC126526	211										ovary(1)|skin(1)	2			Lung(22;0.000636)			TGTTGATGACGTACTTCCCCT	0.647													A	40832311	G	A	40832311	2	1	73	1	0	0	0	0	0	0	0	1	1930	1140	40	1		1	C19orf47	19	40832311	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1640998	40832311	18296672	984	50162											
CYP2A6	1548	broad.mit.edu	37	chr19	41349705	41349705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcacagccctcgctcagCggggcaggaagctcatggtg	15	14	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:41349705C>T	uc002opl.3	-	9	1502	c.1481G>A	c.(1480-1482)CGC>CAC	p.R494H		NM_000762	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A,	494					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	CCTCGCTCAGCGGGGCAGGAA	0.652													T	41349705	C	T	41349705	3	4	73	1	0	0	0	0	1	0	0	0	4162	768	27	1	7	1	CYP2A6	19	41349705	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	517394	41349705	17779278	985	50163											
AXL	558	broad.mit.edu	37	chr19	41726691	41726691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacagatcctggagctcgCggacagcacccagacccagg	13	14	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:41726691C>T	uc010ehj.2	+	2	426	c.236C>T	c.(235-237)GCG>GTG	p.A79V	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.A79V|AXL_uc010ehk.2_Missense_Mutation_p.A79V	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	79	Extracellular (Potential).|Interaction with GAS6.|Ig-like C2-type 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						CTGGAGCTCGCGGACAGCACC	0.637													T	41726691	C	T	41726691	3	4	73	1	0	0	0	0	1	0	0	0	1238	768	27	1	242	1	AXL	19	41726691	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	376986	41726691	17402292	986	50164											
PSG11	5680	broad.mit.edu	37	chr19	43519387	43519387	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggataaagagcttttgtcctGatagctgaaacttcccatta	8	8	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:43519387G>T	uc002ovm.1	-	4	952	c.845C>A	c.(844-846)TCA>TAA	p.S282*	PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG11_uc002ovn.1_Nonsense_Mutation_p.S288*|PSG11_uc002ovo.1_Nonsense_Mutation_p.S160*|PSG11_uc002ovp.1_Nonsense_Mutation_p.S160*	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	282	Ig-like C2-type 2.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				CTTTTGTCCTGATAGCTGAAA	0.468													T	43519387	G	T	43519387	4	4	73	1	0	0	0	0	0	1	0	0	12654	1294	45	5	170	5	PSG11	19	43519387	Nonsense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1792696	43519387	15609596	987	50165											
ZNF428	126299	broad.mit.edu	37	chr19	44111887	44111887	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcttcctcctcctccTcccgcccagctggtcggccc	6	24	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:44111887T>C	uc002oxa.2	-	3	884	c.449A>G	c.(448-450)GAG>GGG	p.E150G	SRRM5_uc002oxb.2_Intron	NM_182498	NP_872304	Q96B54	ZN428_HUMAN	zinc finger protein 428	150	Glu-rich.					intracellular	zinc ion binding				0		Prostate(69;0.0153)				ctcctcctcctccCGCCCAGC	0.557													C	44111887	T	C	44111887	3	2	73	1	0	0	0	0	1	0	0	0	17898	1551	54	3	121	3	ZNF428	19	44111887	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	592500	44111887	15017096	988	50166											
ZNF284	342909	broad.mit.edu	37	chr19	44590402	44590402	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaattacacacaggagaaaaAcctcatatttgtgaggaatg	8	6	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:44590402A>C	uc002oyg.1	+	5	987	c.771A>C	c.(769-771)AAA>AAC	p.K257N	ZNF284_uc010ejd.2_RNA	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	zinc finger protein 284	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				CAGGAGAAAAACCTCATATTT	0.418													C	44590402	A	C	44590402	3	2	73	1	0	0	0	0	1	0	0	0	17818	40	2	5	785	5	ZNF284	19	44590402	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	478515	44590402	14538581	989	50167											
ZNF234	10780	broad.mit.edu	37	chr19	44660629	44660629	+	Frame_Shift_Del	DEL	A	A	-													tttaccaatgtgatgagtacAaaaaatccttcactgatgtc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:44660628_44660628CA>C	uc002oym.3	+	5	766	c.459_459CA>C	c.(457-459)tacfs	p.Y153fs	ZNF234_uc002oyl.4_Frame_Shift_Del_p.Y153fs	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E152D(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GTGATGAGTACAAAAAATCCT	0.408													-	44660629	A	-	44660629	7	5	73	1	0	1	0	1	0	0	0	0	17784	131	5	0	474	0	ZNF234	19	44660629	Frame_Shift_Del	DEL	A	TCGA-BR-8360-01A-11D-2340-08	70227	44660629	14468354	990	50168											
BCAM	4059	broad.mit.edu	37	chr19	45316790	45316790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcaaggatgaccgagacGccagcttccactgcgccgcc	11	17	0	2	rs144233028		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:45316790G>A	uc002ozu.2	+	6	741	c.697G>A	c.(697-699)GCC>ACC	p.A233T	BCAM_uc002ozt.1_Missense_Mutation_p.A233T	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	233	Extracellular (Potential).|Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TGACCGAGACGCCAGCTTCCA	0.697													A	45316790	G	A	45316790	3	1	73	1	0	0	0	0	1	0	0	0	1344	1087	38	1	719	1	BCAM	19	45316790	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	656161	45316790	13812193	991	50169											
NKPD1	284353	broad.mit.edu	37	chr19	45656240	45656240	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggatgaagatgaagggCgcgtggctgtcggacagcag	17	8	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:45656240C>T	uc010xxi.1	-	4	1455	c.1455G>A	c.(1453-1455)GCG>GCA	p.A485A		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		AGATGAAGGGCGCGTGGCTGT	0.662													T	45656240	C	T	45656240	2	4	73	1	0	0	0	0	0	0	0	1	10446	755	27	1		1	NKPD1	19	45656240	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	339450	45656240	13472743	992	50170											
RTN2	6253	broad.mit.edu	37	chr19	45992808	45992808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttccagtacagcaggtccGccactgtggaggggtggggg	17	11	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:45992808G>A	uc002pcb.2	-	6	1265	c.1037C>T	c.(1036-1038)GCG>GTG	p.A346V	RTN2_uc002pcc.2_Missense_Mutation_p.A273V|RTN2_uc002pcd.2_RNA	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	346	Reticulon.					integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CAGCAGGTCCGCCACTGTGGA	0.592													A	45992808	G	A	45992808	3	1	73	1	0	0	0	0	1	0	0	0	13726	1087	38	1	624	1	RTN2	19	45992808	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	336568	45992808	13136175	993	50171											
IGFL4	444882	broad.mit.edu	37	chr19	46543796	46543796	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgtgactccttctgagtttGaacccaaaagttcaaaaatg	7	9	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:46543796G>C	uc002pdy.1	-	2	104	c.50C>G	c.(49-51)TCA>TGA	p.S17*		NM_001002923	NP_001002923	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4 precursor	17						extracellular region					0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		TTCTGAGTTTGAACCCAAAAG	0.517													C	46543796	G	C	46543796	4	2	73	1	0	0	0	0	0	1	0	0	7589	1294	45	5	336	5	IGFL4	19	46543796	Nonsense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	550988	46543796	12585187	994	50172											
CYTH2	9266	broad.mit.edu	37	chr19	48977274	48977274	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggggttttccagtccacaGgtgcgggccccaaatcctgg	13	13	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:48977274G>T	uc002pjj.3	+	6	847	c.547G>T	c.(547-549)GAC>TAC	p.D183Y	CYTH2_uc002pji.2_RNA	NM_017457	NP_059431	Q99418	CYH2_HUMAN	cytohesin 2 isoform 1	183	SEC7.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						CCAGTCCACAGGtgcgggccc	0.303													T	48977274	G	T	48977274	3	4	73	1	0	0	0	0	1	0	0	0	4204	1014	35	5	569	5	CYTH2	19	48977274	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2433478	48977274	10151709	995	50173											
FAM83E	54854	broad.mit.edu	37	chr19	49107038	49107038	+	Frame_Shift_Del	DEL	G	G	-													acctatgaccgagggtttctGggggggcgcaggtgggagcg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:49107037_49107037TG>T	uc002pjn.2	-	3	955	c.890_890CA>A	c.(889-891)cagfs	p.Q297fs	SPACA4_uc002pjo.3_5'Flank	NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	297										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CGAGGGTTTCTGGGGGGGCGC	0.726													-	49107038	G	-	49107038	7	5	73	1	0	1	0	1	0	0	0	0	5637	1357	47	0	555	0	FAM83E	19	49107038	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	129764	49107038	10021945	996	50174											
MAMSTR	284358	broad.mit.edu	37	chr19	49218106	49218107	+	Frame_Shift_Ins	INS	-	-	G													ctgaagttccaacttgtgtgINSgggggggcgaggggctaggg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:49218105_49218106T>TG	uc002pkg.2	-	5	547_548	c.485_486A>CA	c.(484-486)ccafs	p.P162fs	MAMSTR_uc002pkf.2_Frame_Shift_Ins_p.P59fs	NM_001130915	NP_872380	Q6ZN01	MASTR_HUMAN	Homo sapiens MEF2 activating motif and SAP domain containing transcriptional regulator (MAMSTR), transcript variant 1, mRNA.	162	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						CCAACTTGTGTGGGGGGGGCGA	0.569													G	49218107	-	G	49218106	7	5	73	1	0	1	1	0	0	0	0	0	9209	1348	47	0	782	0	MAMSTR	19	49218106	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	111068	49218106	9910877	997	50175											
AP2A1	160	broad.mit.edu	37	chr19	50309974	50309974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcaccagcaaggagcccGtctcccgtcacctgtgtgag	12	15	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:50309974G>A	uc002ppn.2	+	24	3104	c.2893G>A	c.(2893-2895)GTC>ATC	p.V965I	AP2A1_uc002ppo.2_Missense_Mutation_p.V943I|AP2A1_uc010enk.2_Missense_Mutation_p.V96I	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	965				ENFVGAGIIQTKALQVGCLLRLEPNAQAQMYRLTLRTSKEP VSRHLCELLAQQF -> GDREDTRVWGMPGTFLRPFVFLFL FICCCLHSGGLGGVPLPPFPPQAQRGEGPGKWMSPPLPPHP VVAPPTPSPSRGCVLL (in Ref. 4; AAH14214).	axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CAAGGAGCCCGTCTCCCGTCA	0.667													A	50309974	G	A	50309974	3	1	73	1	0	0	0	0	1	0	0	0	739	1145	40	1	2987	1	AP2A1	19	50309974	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1091868	50309974	8819009	998	50176											
MED25	81857	broad.mit.edu	37	chr19	50339096	50339096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgccaggtgcccctcaagGccctcctggagcagcttctg	11	18	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:50339096G>A	uc002ppw.1	+	16	1912	c.1859G>A	c.(1858-1860)GGC>GAC	p.G620D	MED25_uc010ybe.1_Missense_Mutation_p.G407D|MED25_uc002ppx.1_Missense_Mutation_p.G401D	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	mediator complex subunit 25	620	Interaction with RARA.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				ovary(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCCCCTCAAGGCCCTCCTGGA	0.716													A	50339096	G	A	50339096	3	1	73	1	0	0	0	0	1	0	0	0	9443	1203	42	2	1921	2	MED25	19	50339096	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	29122	50339096	8789887	999	50177											
ZNF473	25888	broad.mit.edu	37	chr19	50548684	50548684	+	Frame_Shift_Del	DEL	T	T	-													tgtaacgaatgcggcaaggcTtttacccggatcttccacct							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:50548684delT	uc002prn.2	+	5	1221	c.984delT	c.(982-984)GCTfs	p.A328fs	ZNF473_uc002prm.2_Frame_Shift_Del_p.A328fs|ZNF473_uc010ybo.1_Frame_Shift_Del_p.A316fs	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	328	Interaction with SLBP/pre-mRNA complex.|C2H2-type 3.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GCGGCAAGGCTTTTACCCGGA	0.498													-	50548684	T	-	50548684	7	5	73	1	0	1	0	1	0	0	0	0	17928	1596	56	0	998	0	ZNF473	19	50548684	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	209588	50548684	8580299	1000	50178											
SYT3	84258	broad.mit.edu	37	chr19	51136065	51136065	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgacagcaggctcacggagAtgtctggagagaacgaggac	15	10	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:51136065A>C	uc002pst.2	-	2	786	c.152T>G	c.(151-153)ATC>AGC	p.I51S	SYT3_uc002psv.2_Missense_Mutation_p.I51S|SYT3_uc010ycd.1_Missense_Mutation_p.I51S	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	51	Vesicular (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GCTCACGGAGATGTCTGGAGA	0.512													C	51136065	A	C	51136065	3	2	73	1	0	0	0	0	1	0	0	0	15472	333	12	5	1648	5	SYT3	19	51136065	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	587381	51136065	7992918	1001	50179											
KLK2	3817	broad.mit.edu	37	chr19	51379894	51379894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatgacctcatgctgctcCgcctgtcagagcctgccaag	10	16	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:51379894C>T	uc002ptv.2	+	3	414	c.373C>T	c.(373-375)CGC>TGC	p.R125C	KLK2_uc010eog.2_Missense_Mutation_p.R23C|KLK2_uc010yck.1_Missense_Mutation_p.R125C|KLK2_uc002ptu.2_Missense_Mutation_p.R125C|KLK2_uc002ptt.2_RNA|KLK2_uc010ycl.1_Missense_Mutation_p.R108C|KLK2_uc010ycm.1_Missense_Mutation_p.R23C|KLK2_uc010eoh.2_Missense_Mutation_p.R23C	NM_005551	NP_005542	P20151	KLK2_HUMAN	kallikrein 2, prostatic isoform 1	125	Peptidase S1.				proteolysis		serine-type endopeptidase activity			ovary(1)|skin(1)	2		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CATGCTGCTCCGCCTGTCAGA	0.587			T	ETV4	prostate								T	51379894	C	T	51379894	3	4	73	1	0	0	0	0	1	0	0	0	8404	652	23	1	383	1	KLK2	19	51379894	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	243829	51379894	7749089	1002	50180											
KLK7	5650	broad.mit.edu	37	chr19	51483543	51483543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggagacagtacaggtggttCcagggggttcgcagcgggag	19	8	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:51483543C>T	uc002puo.2	-	4	524	c.422G>A	c.(421-423)GGA>GAA	p.G141E	KLK7_uc002pup.2_Missense_Mutation_p.G141E|KLK7_uc010yco.1_Missense_Mutation_p.G15E|KLK7_uc010eok.2_Missense_Mutation_p.G69E	NM_139277	NP_644806	P49862	KLK7_HUMAN	stratum corneum chymotryptic enzyme	141	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		ACAGGTGGTTCCAGGGGGTTC	0.458													T	51483543	C	T	51483543	3	4	73	1	0	0	0	0	1	0	0	0	8409	855	30	4	351	4	KLK7	19	51483543	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	103649	51483543	7645440	1003	50181											
ZNF808	388558	broad.mit.edu	37	chr19	53050772	53050772	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcattttagggacgctTgactttcagggatgtggcta	12	6	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:53050772T>C	uc010epq.1	+	4	248	c.71T>C	c.(70-72)TTG>TCG	p.L24S	ZNF808_uc002pzq.2_Intron	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TAGGGACGCTTGACTTTCAGG	0.393													C	53050772	T	C	53050772	3	2	73	1	0	0	0	0	1	0	0	0	18170	1821	63	3	77	3	ZNF808	19	53050772	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	1567229	53050772	6078211	1004	50182											
NLRP11	204801	broad.mit.edu	37	chr19	56320425	56320425	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taccacttgaagctgtctacCatcggtagctggtatccaaa	8	11	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:56320425C>A	uc010ygf.1	-	5	2262	c.1551G>T	c.(1549-1551)ATG>ATT	p.M517I	NLRP11_uc002qlz.2_Missense_Mutation_p.M418I|NLRP11_uc002qmb.2_Missense_Mutation_p.M418I|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	517							ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGCTGTCTACCATCGGTAGCT	0.408													A	56320425	C	A	56320425	3	1	73	1	0	0	0	0	1	0	0	0	10473	594	21	5	1582	5	NLRP11	19	56320425	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	3269653	56320425	2808558	1005	50183											
ZNF71	58491	broad.mit.edu	37	chr19	57134038	57134038	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaccagcggatccacacGggcgagaagccctaccgatg	13	14	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:57134038G>A	uc002qnm.3	+	3	1621	c.1383G>A	c.(1381-1383)ACG>ACA	p.T461T		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	461						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGATCCACACGGGCGAGAAGC	0.637													A	57134038	G	A	57134038	2	1	73	1	0	0	0	0	0	0	0	1	18111	1103	39	1		1	ZNF71	19	57134038	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	813613	57134038	1994945	1006	50184											
ZNF530	348327	broad.mit.edu	37	chr19	58118568	58118568	+	Frame_Shift_Del	DEL	A	A	-													gtgggaaatcttttacccgcAaaaatcacctcattcaacac							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:58118568delA	uc002qpk.2	+	3	1895	c.1675delA	c.(1675-1677)AAAfs	p.K559fs	ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	559	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTTTACCCGCAAAAATCACCT	0.448													-	58118568	A	-	58118568	7	5	73	1	0	1	0	1	0	0	0	0	17968	131	5	0	1685	0	ZNF530	19	58118568	Frame_Shift_Del	DEL	A	TCGA-BR-8360-01A-11D-2340-08	984530	58118568	1010415	1007	50185											
ZNF135	7694	broad.mit.edu	37	chr19	58579087	58579087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagaaaagccctatgagtGtggtgagtgtgggaaagcct	16	5	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:58579087G>A	uc010yhq.1	+	5	1367	c.1271G>A	c.(1270-1272)TGT>TAT	p.C424Y	ZNF135_uc002qre.2_Missense_Mutation_p.C412Y|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.C370Y|ZNF135_uc002qrg.2_Missense_Mutation_p.C382Y|ZNF135_uc010yhr.1_Missense_Mutation_p.C233Y	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	424					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CCCTATGAGTGTGGTGAGTGT	0.537													A	58579087	G	A	58579087	3	1	73	1	0	0	0	0	1	0	0	0	17722	1377	48	4	1438	4	ZNF135	19	58579087	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	460519	58579087	549896	1008	50186											
ZBTB45	84878	broad.mit.edu	37	chr19	59028938	59028938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacgaatgcgcacagtcaCgtcacagaagtgtcccccaa	8	14	3	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:59028938C>T	uc002qtd.2	-	2	395	c.103G>A	c.(103-105)GTG>ATG	p.V35M	ZBTB45_uc002qte.2_Missense_Mutation_p.V35M|ZBTB45_uc002qtf.2_Missense_Mutation_p.V35M	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	35	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CGCACAGTCACGTCACAGAAG	0.612											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	59028938	C	T	59028938	3	4	73	1	0	0	0	0	1	0	0	0	17543	536	19	1	1440	1	ZBTB45	19	59028938	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	449851	59028938	100045	1009	50187											
PTPRA	5786	broad.mit.edu	37	chr20	3007405	3007405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccaacatgaagaagaacCgtgttttacagatcattcca	7	10	1	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:3007405C>T	uc010zqd.1	+	17	2037	c.1720C>T	c.(1720-1722)CGT>TGT	p.R574C	PTPRA_uc002whj.2_Missense_Mutation_p.R563C|PTPRA_uc002whk.2_Missense_Mutation_p.R554C|PTPRA_uc002whl.2_Missense_Mutation_p.R554C|PTPRA_uc002whm.2_Missense_Mutation_p.R330C|PTPRA_uc002whn.2_Missense_Mutation_p.R554C|PTPRA_uc002who.2_Missense_Mutation_p.R226C	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	563	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						GAAGAAGAACCGTGTTTTACA	0.468													T	3007405	C	T	3007405	3	4	73	1	0	0	0	0	1	0	0	0	12795	652	23	1	1745	1	PTPRA	20	3007405	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08		3007405	60018115	1010	50188											
ProSAPiP1	9762	broad.mit.edu	37	chr20	3147530	3147530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgaggtagagggagttggCgagacccttgtcctctgagg	16	7	1	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:3147530C>T	uc002wia.1	-	1	1678	c.280G>A	c.(280-282)GCC>ACC	p.A94T	ProSAPiP1_uc002wib.1_Missense_Mutation_p.A94T	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	94						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						AGGGAGTTGGCGAGACCCTTG	0.682													T	3147530	C	T	3147530	3	4	73	1	0	0	0	0	1	0	0	0	12870	768	27	1	1753	1	ProSAPiP1	20	3147530	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	140125	3147530	59877990	1011	50189											
ATRN	8455	broad.mit.edu	37	chr20	3543988	3543988	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccaaatgcttctcttcAgatttcatggcctatgacat	8	11	3	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:3543988A>G	uc002wim.2	+	10	1854	c.1764A>G	c.(1762-1764)TCA>TCG	p.S588S	ATRN_uc002wil.2_Silent_p.S588S	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	588	Extracellular (Potential).|Kelch 5.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2						GCTTCTCTTCAGATTTCATGG	0.418													G	3543988	A	G	3543988	2	3	73	1	0	0	0	0	0	0	0	1	1206	175	7	3		3	ATRN	20	3543988	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	396458	3543988	59481532	1012	50190											
CENPB	1059	broad.mit.edu	37	chr20	3766457	3766457	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcgcatagcaggacgctcAggcgctgggtggcttgacgc	17	11	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:3766457A>G	uc002wjk.2	-	1	881	c.674T>C	c.(673-675)CTG>CCG	p.L225P	CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	centromere protein B	225					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding				0						CAGGACGCTCAGGCGCTGGGT	0.721													G	3766457	A	G	3766457	3	3	73	1	0	0	0	0	1	0	0	0	3227	188	7	3	1129	3	CENPB	20	3766457	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	222469	3766457	59259063	1013	50191											
ADRA1D	146	broad.mit.edu	37	chr20	4229294	4229294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccataaggatgaaggctGccaggaagacgcccacgccc	13	14	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:4229294G>A	uc002wkr.2	-	1	366	c.311C>T	c.(310-312)GCA>GTA	p.A104V		NM_000678	NP_000669	P25100	ADA1D_HUMAN	alpha-1D-adrenergic receptor	104	Helical; Name=1; (By similarity).				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity				0					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	GATGAAGGCTGCCAGGAAGAc	0.303													A	4229294	G	A	4229294	3	1	73	1	0	0	0	0	1	0	0	0	336	1319	46	2	1415	2	ADRA1D	20	4229294	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	462837	4229294	58796226	1014	50192											
PLCB1	23236	broad.mit.edu	37	chr20	8698474	8698474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgactcctccagcatgttcGagccctcatccccaggagcc	9	17	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:8698474G>A	uc002wnb.2	+	14	1495	c.1492G>A	c.(1492-1494)GAG>AAG	p.E498K	PLCB1_uc010zrb.1_Missense_Mutation_p.E397K|PLCB1_uc002wna.2_Missense_Mutation_p.E498K|PLCB1_uc002wnc.1_Missense_Mutation_p.E397K|PLCB1_uc002wnd.1_Missense_Mutation_p.E75K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	498					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						CAGCATGTTCGAGCCCTCATC	0.458													A	8698474	G	A	8698474	3	1	73	1	0	0	0	0	1	0	0	0	12027	1059	37	1	1546	1	PLCB1	20	8698474	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	4469180	8698474	54327046	1015	50193											
RALGAPA2	57186	broad.mit.edu	37	chr20	20484084	20484084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtagcatagtaaggggCcgtctgcccggtgctgccat	15	10	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:20484084C>T	uc002wrz.2	-	35	5262	c.5119G>A	c.(5119-5121)GCC>ACC	p.A1707T	RALGAPA2_uc010gcx.2_Missense_Mutation_p.A1411T|RALGAPA2_uc010zsg.1_Missense_Mutation_p.A1155T|RALGAPA2_uc002wsa.1_Missense_Mutation_p.A479T	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1707	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						TAGTAAGGGGCCGTCTGCCCG	0.517													T	20484084	C	T	20484084	3	4	73	1	0	0	0	0	1	0	0	0	13014	739	26	2	522	2	RALGAPA2	20	20484084	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	11785610	20484084	42541436	1016	50194											
SSTR4	6754	broad.mit.edu	37	chr20	23016316	23016316	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtggggctggtgggcaacGccctggtcatcttcgtgatc	16	10	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:23016316G>T	uc002wsr.2	+	1	260	c.196G>T	c.(196-198)GCC>TCC	p.A66S		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	66	Helical; Name=1; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGTGGGCAACGCCCTGGTCAT	0.507													T	23016316	G	T	23016316	3	4	73	1	0	0	0	0	1	0	0	0	15199	1087	38	5	198	5	SSTR4	20	23016316	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2532232	23016316	40009204	1017	50195											
CD93	22918	broad.mit.edu	37	chr20	23065176	23065176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccagaggcagctgtggCgtgatggatgctgggctccc	19	10	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:23065176C>T	uc002wsv.2	-	1	1802	c.1654G>A	c.(1654-1656)GCC>ACC	p.A552T		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	552	Extracellular (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCAGCTGTGGCGTGATGGATG	0.617													T	23065176	C	T	23065176	3	4	73	1	0	0	0	0	1	0	0	0	3047	768	27	1	312	1	CD93	20	23065176	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	48860	23065176	39960344	1018	50196											
C20orf3	57136	broad.mit.edu	37	chr20	24952096	24952096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgagatattgtcacatacGtttccagggatttacttcaa	7	8	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:24952096G>A	uc002wty.2	-	5	639	c.538C>T	c.(538-540)CGT>TGT	p.R180C	C20orf3_uc002wtz.2_Missense_Mutation_p.R180C|C20orf3_uc010zsw.1_Missense_Mutation_p.R180C	NM_020531	NP_065392	Q9HDC9	APMAP_HUMAN	chromosome 20 open reading frame 3	180	Extracellular (Potential).				biosynthetic process	cell surface|integral to membrane	arylesterase activity|strictosidine synthase activity			ovary(1)	1						TGTCACATACGTTTCCAGGGA	0.418													A	24952096	G	A	24952096	3	1	73	1	0	0	0	0	1	0	0	0	2109	1159	40	1	732	1	C20orf3	20	24952096	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1886920	24952096	38073424	1019	50197											
ACSS1	84532	broad.mit.edu	37	chr20	24994689	24994689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttccgagggccgtggtgCgatgcagatgccacctgttt	13	11	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:24994689C>T	uc002wub.2	-	9	2238	c.1360G>A	c.(1360-1362)GCA>ACA	p.A454T	ACSS1_uc002wuc.2_Missense_Mutation_p.A452T|ACSS1_uc010gdc.2_Missense_Mutation_p.A249T|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Missense_Mutation_p.A371T	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	454					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGCCGTGGTGCGATGCAGATG	0.567													T	24994689	C	T	24994689	3	4	73	1	0	0	0	0	1	0	0	0	188	768	27	1	733	1	ACSS1	20	24994689	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	42593	24994689	38030831	1020	50198											
NECAB3	63941	broad.mit.edu	37	chr20	32246607	32246607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgcaggccttcctctgCcacctggacctgcctctggg	11	17	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:32246607C>T	uc002wzn.3	-	9	1019	c.913G>A	c.(913-915)GCA>ACA	p.A305T	NECAB3_uc002wzl.2_Missense_Mutation_p.A50T|NECAB3_uc002wzm.3_Missense_Mutation_p.A271T|NECAB3_uc002wzo.3_RNA|NECAB3_uc002wzp.3_Missense_Mutation_p.A198T|NECAB3_uc002wzq.3_Missense_Mutation_p.A253T|NECAB3_uc002wzr.3_RNA|NECAB3_uc010geo.2_Missense_Mutation_p.A271T	NM_031232	NP_112509	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	305	ABM.				antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			lung(1)	1						CCTTCCTCTGCCACCTGGACC	0.672													T	32246607	C	T	32246607	3	4	73	1	0	0	0	0	1	0	0	0	10306	739	26	2	293	2	NECAB3	20	32246607	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	7251918	32246607	30778913	1021	50199											
TP53INP2	58476	broad.mit.edu	37	chr20	33297184	33297184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggactcggtcccgcccGcctccagagcagtcccctgg	12	19	0	1	rs143925581	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:33297184G>A	uc002xau.1	+	4	604	c.269G>A	c.(268-270)CGC>CAC	p.R90H		NM_021202	NP_067025	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	90						nucleus					0						GGTCCCGCCCGCCTCCAGAGC	0.562													A	33297184	G	A	33297184	3	1	73	1	0	0	0	0	1	0	0	0	16386	1087	38	1	275	1	TP53INP2	20	33297184	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1050577	33297184	29728336	1022	50200											
GGT7	2686	broad.mit.edu	37	chr20	33450750	33450750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggcagcatcggtcaccaCggcaccctgctggaagatct	13	14	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:33450750C>T	uc002xay.2	-	3	467	c.424G>A	c.(424-426)GTG>ATG	p.V142M	GGT7_uc002xaz.1_Missense_Mutation_p.V159M|GGT7_uc002xba.1_Missense_Mutation_p.V142M	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	142	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(1)	1						TCGGTCACCACGGCACCCTGC	0.612													T	33450750	C	T	33450750	3	4	73	1	0	0	0	0	1	0	0	0	6364	536	19	1	1616	1	GGT7	20	33450750	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	153566	33450750	29574770	1023	50201											
BPI	671	broad.mit.edu	37	chr20	36939000	36939000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaccatcacctgctccaGctgcagcagccacatcaaca	6	19	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:36939000G>A	uc002xib.2	+	4	556	c.494G>A	c.(493-495)AGC>AAC	p.S165N		NM_001725	NP_001716	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	165					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			ovary(4)	4		Myeloproliferative disorder(115;0.00878)				ACCTGCTCCAGCTGCAGCAGC	0.552													A	36939000	G	A	36939000	3	1	73	1	0	0	0	0	1	0	0	0	1490	971	34	2	508	2	BPI	20	36939000	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	3488250	36939000	26086520	1024	50202											
L3MBTL	26013	broad.mit.edu	37	chr20	42161428	42161428	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctagagtcccccacccctgGgcttccaggtgggcatgaag	12	15	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:42161428G>T	uc010zwh.1	+	12	1280	c.1234G>T	c.(1234-1236)GGC>TGC	p.G412C	L3MBTL_uc002xkl.2_Missense_Mutation_p.G344C|L3MBTL_uc002xkm.2_Missense_Mutation_p.G344C|L3MBTL_uc010ggl.2_Missense_Mutation_p.G344C|L3MBTL_uc002xkn.1_Missense_Mutation_p.G103C|L3MBTL_uc002xko.2_5'UTR	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	344	MBT 2.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCCACCCCTGGGCTTCCAGGT	0.602													T	42161428	G	T	42161428	3	4	73	1	0	0	0	0	1	0	0	0	8591	1232	43	5	1064	5	L3MBTL	20	42161428	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	5222428	42161428	20864092	1025	50203											
MMP9	4318	broad.mit.edu	37	chr20	44639956	44639956	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttctgccccagcgagaGtgagtgagggggctcgccga	17	11	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:44639956G>A	uc002xqz.2	+	5	842	c.823_splice	c.e5+1	p.R275_splice		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein						collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CCCAGCGAGAGTGAGTGAGGG	0.512													A	44639956	G	A	44639956	5	1	73	1	0	0	0	0	0	0	1	0	9669	1043	36	4	842	4	MMP9	20	44639956	Splice_Site	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2478528	44639956	18385564	1026	50204											
ARFGEF2	10564	broad.mit.edu	37	chr20	47567893	47567893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggcacatcactggcaacGcccctgacagtggagcccct	11	16	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:47567893G>A	uc002xtx.3	+	4	462	c.310G>A	c.(310-312)GCC>ACC	p.A104T		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	104					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CACTGGCAACGCCCCTGACAG	0.512													A	47567893	G	A	47567893	3	1	73	1	0	0	0	0	1	0	0	0	853	1087	38	1	324	1	ARFGEF2	20	47567893	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2927937	47567893	15457627	1027	50205											
PTGIS	5740	broad.mit.edu	37	chr20	48156225	48156225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcatgggtgcgtggcagCgcctcaattccgtaaagagt	12	10	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:48156225C>T	uc002xut.2	-	5	609	c.555G>A	c.(553-555)GCG>GCA	p.A185A	PTGIS_uc010zyi.1_Silent_p.A46A	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	prostaglandin I2 synthase	185					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TGCGTGGCAGCGCCTCAATTC	0.632													T	48156225	C	T	48156225	2	4	73	1	0	0	0	0	0	0	0	1	12752	755	27	1		1	PTGIS	20	48156225	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	588332	48156225	14869295	1028	50206											
ATP9A	10079	broad.mit.edu	37	chr20	50235243	50235243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcgctcctgaagcaggcGcacgatctgggccttctggg	15	13	2	1	rs138665384	by1000genomes	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:50235243G>A	uc002xwg.1	-	21	2308	c.2308C>T	c.(2308-2310)CGC>TGC	p.R770C	ATP9A_uc010gih.1_Missense_Mutation_p.R634C|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	770	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						TGAAGCAGGCGCACGATCTGG	0.647													A	50235243	G	A	50235243	3	1	73	1	0	0	0	0	1	0	0	0	1198	1087	38	1	867	1	ATP9A	20	50235243	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2079018	50235243	12790277	1029	50207											
MC3R	4159	broad.mit.edu	37	chr20	54824580	54824580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagcagcactgccacctgcCgacggggtggccccacagca	12	16	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:54824580C>T	uc002xxb.2	+	1	793	c.681C>T	c.(679-681)GCC>GCT	p.A227A		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	264	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)|breast(2)	4			Colorectal(105;0.202)			TGCCACCTGCCGACGGGGTGG	0.602													T	54824580	C	T	54824580	2	4	73	1	0	0	0	0	0	0	0	1	9365	639	23	1		1	MC3R	20	54824580	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	4589337	54824580	8200940	1030	50208											
EDN3	1908	broad.mit.edu	37	chr20	57897444	57897445	+	Frame_Shift_Ins	INS	-	-	A													agtaattcaaggacggcagaINSaaaaacagacaaagaagagg					rs11570344		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:57897443_57897444G>GA	uc002yap.3	+	3	928_929	c.559_560G>GA	c.(559-561)gaafs	p.E187fs	EDN3_uc002yao.1_Intron|EDN3_uc002yaq.3_Frame_Shift_Ins_p.E187fs|EDN3_uc002yar.3_Frame_Shift_Ins_p.E187fs|EDN3_uc002yas.3_Intron	NM_000114	NP_996917	P14138	EDN3_HUMAN	Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA.	187					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					AAGGACGGCAGAAAAAACAGAC	0.49													A	57897445	-	A	57897444	7	5	73	1	0	1	1	0	0	0	0	0	4918	246	9	0	574	0	EDN3	20	57897444	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	3072864	57897444	5128076	1031	50209											
SYCP2	10388	broad.mit.edu	37	chr20	58490593	58490593	+	Frame_Shift_Del	DEL	T	T	-													tttgtcaagcatagcattcaTtttttttataatctagaaaa							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:58490592_58490592AT>A	uc002yaz.3	-	7	666	c.527_527AT>T	c.(526-528)atgfs	p.M176fs	SYCP2_uc010gju.1_Frame_Shift_Del_p.M77fs	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	176					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CATAGCATTCATTTTTTTTAT	0.284													-	58490593	T	-	58490593	7	5	73	1	0	1	0	1	0	0	0	0	15429	1493	52	0	4214	0	SYCP2	20	58490593	Frame_Shift_Del	DEL	T	TCGA-BR-8360-01A-11D-2340-08	593149	58490593	4534927	1032	50210											
C20orf151	140893	broad.mit.edu	37	chr20	60989485	60989485	+	Frame_Shift_Del	DEL	G	G	-													gggggctgcagcaggggccaGggggctgctgtgggggctct							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:60989485delG	uc002ycw.1	-	10	1079	c.922delC	c.(922-924)CTGfs	p.L308fs		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	hypothetical protein LOC140893	308											0	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)			GCAGGGGCCAGGGGGCTGCTG	0.697													-	60989485	G	-	60989485	7	5	73	1	0	1	0	1	0	0	0	0	2091	991	35	0	1092	0	C20orf151	20	60989485	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	2498892	60989485	2036035	1033	50211											
DIDO1	11083	broad.mit.edu	37	chr20	61525801	61525801	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgagatcgaagaggtgtgCgcggtgctgactggtggtgt	19	5	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:61525801C>A	uc002ydr.1	-	11	2800	c.2536G>T	c.(2536-2538)GCA>TCA	p.A846S	DIDO1_uc002yds.1_Missense_Mutation_p.A846S|DIDO1_uc002ydt.1_Missense_Mutation_p.A846S|DIDO1_uc002ydu.1_Missense_Mutation_p.A846S	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	846					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					AAGAGGTGTGCGCGGTGCTGA	0.512													A	61525801	C	A	61525801	3	1	73	1	0	0	0	0	1	0	0	0	4522	768	27	5	4239	5	DIDO1	20	61525801	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	536316	61525801	1499719	1034	50212											
CHRNA4	1137	broad.mit.edu	37	chr20	61978135	61978135	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcaggaagaggcccaccgtCcccagcaggcagacgatgat	14	13	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:61978135C>T	uc002yes.2	-	6	2017	c.1839G>A	c.(1837-1839)GGG>GGA	p.G613G	CHRNA4_uc002yet.1_Silent_p.G437G|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.G542G|CHRNA4_uc002yev.1_Silent_p.G437G|CHRNA4_uc010gkf.1_Silent_p.G437G	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	613	Helical; (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GGCCCACCGTCCCCAGCAGGC	0.647													T	61978135	C	T	61978135	2	4	73	1	0	0	0	0	0	0	0	1	3385	842	30	4		4	CHRNA4	20	61978135	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	452334	61978135	1047385	1035	50213											
MYT1	4661	broad.mit.edu	37	chr20	62838987	62838987	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattttggatccaaccccatCggcagcgccactgcctcctc	7	18	0	0	rs142929665		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:62838987C>T	uc002yii.2	+	7	802	c.438C>T	c.(436-438)ATC>ATT	p.I146I	MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	146					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCAACCCCATCGGCAGCGCCA	0.562													T	62838987	C	T	62838987	2	4	73	1	0	0	0	0	0	0	0	1	10106	874	31	1		1	MYT1	20	62838987	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	860852	62838987	186533	1036	50214											
ADAMTS5	11096	broad.mit.edu	37	chr21	28337989	28337989	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagcgggcgagagagcggacTggtccaagagctgcgaggcc	18	11	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr21:28337989T>A	uc002ymg.2	-	1	1451	c.722A>T	c.(721-723)CAG>CTG	p.Q241L		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	241					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						GAGAGCGGACTGGTCCAAGAG	0.731													A	28337989	T	A	28337989	3	1	73	1	0	0	0	0	1	0	0	0	269	1580	55	5	2102	5	ADAMTS5	21	28337989	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08		28337989	19791906	1037	50215											
RWDD2B	10069	broad.mit.edu	37	chr21	30380774	30380774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaagtagacttttgaagatCgcccctccattgtcttcttt	6	10	2	3	rs146828876	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr21:30380774C>T	uc002yms.2	-	2	323	c.236G>A	c.(235-237)CGA>CAA	p.R79Q	RWDD2B_uc002ymt.2_Missense_Mutation_p.R50Q|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_5'UTR	NM_016940	NP_058636	P57060	RWD2B_HUMAN	RWD domain containing 2B	79	RWD.										0						TTTTGAAGATCGCCCCTCCAT	0.393													T	30380774	C	T	30380774	3	4	73	1	0	0	0	0	1	0	0	0	13756	884	31	1	739	1	RWDD2B	21	30380774	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2042785	30380774	17749121	1038	50216											
KRTAP19-7	337974	broad.mit.edu	37	chr21	31933432	31933432	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttattcaatagaatccagaAgaccagtatcccccatagca	5	11	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr21:31933432A>C	uc011adb.1	-	1	177	c.177T>G	c.(175-177)TCT>TCG	p.S59S		NM_181614	NP_853645	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	59						intermediate filament					0						AGAATCCAGAAGACCAGTATC	0.443													C	31933432	A	C	31933432	2	2	73	1	0	0	0	0	0	0	0	1	8534	59	3	5		5	KRTAP19-7	21	31933432	Silent	SNP	A	TCGA-BR-8360-01A-11D-2340-08	1552658	31933432	16196463	1039	50217											
KRTAP11-1	337880	broad.mit.edu	37	chr21	32253783	32253783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtaacttgggccactggaaCaatgcagcgtcctccaatgg	12	11	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr21:32253783C>T	uc002yov.2	-	1	92	c.61G>A	c.(61-63)GTT>ATT	p.V21I		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	21						keratin filament	structural molecule activity			pancreas(1)	1						GCCACTGGAACAATGCAGCGT	0.547													T	32253783	C	T	32253783	3	4	73	1	0	0	0	0	1	0	0	0	8517	478	17	4	434	4	KRTAP11-1	21	32253783	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	320351	32253783	15876112	1040	50218											
HUNK	30811	broad.mit.edu	37	chr21	33370838	33370838	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttatgctttcttggtgtgcaGattcctttggctgccgcaat	10	9	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr21:33370838G>A	uc002yph.2	+	11	1847	c.1487_splice	c.e11-1	p.D496_splice		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase						multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2						TTGGTGTGCAGATTCCTTTGG	0.537													A	33370838	G	A	33370838	5	1	73	1	0	0	0	0	0	0	1	0	7458	956	33	4	1528	4	HUNK	21	33370838	Splice_Site	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1117055	33370838	14759057	1041	50219											
SYNJ1	8867	broad.mit.edu	37	chr21	34012041	34012041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcttccagcagatgcccGcgcgtggctctgtggggcac	14	14	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr21:34012041G>A	uc002yqh.2	-	30	3754	c.3754C>T	c.(3754-3756)CGG>TGG	p.R1252W	SYNJ1_uc011ads.1_Missense_Mutation_p.R1166W|SYNJ1_uc002yqf.2_Missense_Mutation_p.R1197W|SYNJ1_uc002yqg.2_Missense_Mutation_p.R1166W|SYNJ1_uc002yqi.2_Missense_Mutation_p.R1252W|SYNJ1_uc002yqe.3_5'UTR	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	1213	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						GCAGATGCCCGCGCGTGGCTC	0.413													A	34012041	G	A	34012041	3	1	73	1	0	0	0	0	1	0	0	0	15449	1086	38	1	1121	1	SYNJ1	21	34012041	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	641203	34012041	14117854	1042	50220											
SLC5A3	6526	broad.mit.edu	37	chr21	35467627	35467627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggatacttcctggcggggCgctctatgacctgggtaaca	14	10	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr21:35467627C>T	uc002yto.2	+	2	642	c.130C>T	c.(130-132)CGC>TGC	p.R44C	MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	solute carrier family 5 (inositol transporters),	44	Helical; (Potential).					integral to plasma membrane	myo-inositol:sodium symporter activity			ovary(2)	2						CCTGGCGGGGCGCTCTATGAC	0.488													T	35467627	C	T	35467627	3	4	73	1	0	0	0	0	1	0	0	0	14666	768	27	1	132	1	SLC5A3	21	35467627	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1455586	35467627	12662268	1043	50221											
DSCAM	1826	broad.mit.edu	37	chr21	41559141	41559141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacctgagcgtaattgtgCgtgctttgacatctttgatc	9	10	1	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr21:41559141C>T	uc002yyq.1	-	14	3148	c.2696G>A	c.(2695-2697)CGC>CAC	p.R899H	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	899	Extracellular (Potential).|Fibronectin type-III 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGTAATTGTGCGTGCTTTGAC	0.438													T	41559141	C	T	41559141	3	4	73	1	0	0	0	0	1	0	0	0	4768	768	27	1	3422	1	DSCAM	21	41559141	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	6091514	41559141	6570754	1044	50222											
RIPK4	54101	broad.mit.edu	37	chr21	43161712	43161712	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacgatattctcctgcccGtgctggcaggccacgtgcat	11	15	1	0	rs150110999		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr21:43161712G>A	uc002yzn.1	-	8	1689	c.1641C>T	c.(1639-1641)CAC>CAT	p.H547H		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	547						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						TCTCCTGCCCGTGCTGGCAGG	0.657													A	43161712	G	A	43161712	2	1	73	1	0	0	0	0	0	0	0	1	13383	1136	40	1		1	RIPK4	21	43161712	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1602571	43161712	4968183	1045	50223											
UMODL1	89766	broad.mit.edu	37	chr21	43496223	43496223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtcctatgtgtcctgcggCggctggatcccctggaggcg	15	13	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr21:43496223C>T	uc002zaf.1	+	2	186	c.186C>T	c.(184-186)GGC>GGT	p.G62G	UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zag.1_Silent_p.G62G|uc002zah.1_RNA	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	62	Extracellular (Potential).|EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						TGTCCTGCGGCGGCTGGATCC	0.607													T	43496223	C	T	43496223	2	4	73	1	0	0	0	0	0	0	0	1	16977	755	27	1		1	UMODL1	21	43496223	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	334511	43496223	4633672	1046	50224											
AIRE	326	broad.mit.edu	37	chr21	45706903	45706903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggggaggaagcccccggCcgtccccaaggctttggtac	15	13	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr21:45706903C>T	uc002zei.2	+	3	477	c.350C>T	c.(349-351)GCC>GTC	p.A117V		NM_000383	NP_000374	O43918	AIRE_HUMAN	autoimmune regulator isoform 1	117					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			skin(1)	1				Colorectal(79;0.0806)		AAGCCCCCGGCCGTCCCCAAG	0.672									Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy				T	45706903	C	T	45706903	3	4	73	1	0	0	0	0	1	0	0	0	437	739	26	2	360	2	AIRE	21	45706903	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2210680	45706903	2422992	1047	50225											
COL18A1	80781	broad.mit.edu	37	chr21	46888235	46888235	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacccagacggatgacccCgacgtcgggctggcctacgt	13	15	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr21:46888235C>T	uc011afs.1	+	2	1452	c.1431C>T	c.(1429-1431)CCC>CCT	p.P477P	COL18A1_uc002zhg.2_Silent_p.P62P|COL18A1_uc002zhi.2_Silent_p.P242P	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	477	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CGGATGACCCCGACGTCGGGC	0.632													T	46888235	C	T	46888235	2	4	73	1	0	0	0	0	0	0	0	1	3675	639	23	1		1	COL18A1	21	46888235	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1181332	46888235	1241660	1048	50226											
GAB4	128954	broad.mit.edu	37	chr22	17444669	17444669	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttaccagtgctcctcggCggggctgaactgctggtgcc	14	12	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:17444669C>T	uc002zlw.2	-	9	1635	c.1527G>A	c.(1525-1527)CCG>CCA	p.P509P		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	509										large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGCTCCTCGGCGGGGCTGAAC	0.617													T	17444669	C	T	17444669	2	4	73	1	0	0	0	0	0	0	0	1	6151	755	27	1		1	GAB4	22	17444669	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08		17444669	33859897	1049	50227											
MICAL3	57553	broad.mit.edu	37	chr22	18387473	18387473	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctcgtagatcatgtatggTgaatggccagagatgcaaga	12	7	1	4			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:18387473T>C	uc002zng.3	-	3	750	c.397A>G	c.(397-399)ACC>GCC	p.T133A	MICAL3_uc011agl.1_Missense_Mutation_p.T133A|MICAL3_uc002znh.2_Missense_Mutation_p.T133A|MICAL3_uc002znj.1_5'Flank|MICAL3_uc002znk.1_Missense_Mutation_p.T133A|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Missense_Mutation_p.T133A|MICAL3_uc011agm.1_Missense_Mutation_p.T133A	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	133						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		TCATGTATGGTGAATGGCCAG	0.483													C	18387473	T	C	18387473	3	2	73	1	0	0	0	0	1	0	0	0	9571	1696	59	3	6468	3	MICAL3	22	18387473	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	942804	18387473	32917093	1050	50228											
P2RX6	9127	broad.mit.edu	37	chr22	21372319	21372319	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaccaacttccttgtgacGccagcccaagttcagggcag	11	13	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:21372319G>A	uc010gsu.1	+	3	357	c.357G>A	c.(355-357)ACG>ACA	p.T119T	P2RX6_uc002ztz.2_Silent_p.T93T|P2RX6_uc010gst.1_3'UTR|P2RX6_uc002zua.2_Intron|P2RX6_uc002zuc.1_RNA	NM_005446	NP_005437	O15547	P2RX6_HUMAN	purinergic receptor P2X6 isoform 1	119	Extracellular (Potential).				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0						TCCTTGTGACGCCAGCCCAAG	0.592													A	21372319	G	A	21372319	2	1	73	1	0	0	0	0	0	0	0	1	11344	1074	38	1		1	P2RX6	22	21372319	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2984846	21372319	29932247	1051	50229											
RTDR1	27156	broad.mit.edu	37	chr22	23406130	23406130	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggatgttctggttggcGctgaggagcttctgcttcag	15	9	3	1	rs117158573	by1000genomes	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:23406130G>A	uc002zwt.2	-	5	761	c.603C>T	c.(601-603)AGC>AGT	p.S201S		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region protein 1	201							binding			ovary(1)	1	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TCTGGTTGGCGCTGAGGAGCT	0.612													A	23406130	G	A	23406130	2	1	73	1	0	0	0	0	0	0	0	1	13719	1078	38	1		1	RTDR1	22	23406130	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	2033811	23406130	27898436	1052	50230											
MMP11	4320	broad.mit.edu	37	chr22	24124566	24124566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaggcagggactactggcGtttccaccccagcacccggc	12	17	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:24124566G>A	uc002zxx.2	+	7	1251	c.1229G>A	c.(1228-1230)CGT>CAT	p.R410H	MMP11_uc002zxy.2_RNA|MMP11_uc002zxz.2_RNA	NM_005940	NP_005931	P24347	MMP11_HUMAN	matrix metalloproteinase 11 preproprotein	410	Hemopexin-like 3.				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(2)|large_intestine(1)	3		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				GACTACTGGCGTTTCCACCCC	0.602													A	24124566	G	A	24124566	3	1	73	1	0	0	0	0	1	0	0	0	9650	1145	40	1	1255	1	MMP11	22	24124566	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	718436	24124566	27180000	1053	50231											
CABIN1	23523	broad.mit.edu	37	chr22	24515545	24515545	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctggtgctgaggagcaGcggcagtttctcacagagca	15	11	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:24515545G>A	uc002zzi.1	+	28	4639	c.4512G>A	c.(4510-4512)CAG>CAA	p.Q1504Q	CABIN1_uc002zzj.1_Silent_p.Q1425Q|CABIN1_uc002zzl.1_Silent_p.Q1504Q	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1504					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						CTGAGGAGCAGCGGCAGTTTC	0.637													A	24515545	G	A	24515545	2	1	73	1	0	0	0	0	0	0	0	1	2528	962	34	2		2	CABIN1	22	24515545	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	390979	24515545	26789021	1054	50232											
SNRPD3	6634	broad.mit.edu	37	chr22	24964106	24964106	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaataaaaaccaaggctcagGggctggccgaggaaaagctg	13	8	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:24964106G>T	uc003aam.1	+	3	721	c.281G>T	c.(280-282)GGG>GTG	p.G94V	SNRPD3_uc011aju.1_Missense_Mutation_p.G94V	NM_004175	NP_004166	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein polypeptide D3	94	Arg/Lys-rich (basic).				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding			ovary(1)	1						CAAGGCTCAGGGGCTGGCCGA	0.448													T	24964106	G	T	24964106	3	4	73	1	0	0	0	0	1	0	0	0	14866	1232	43	5	287	5	SNRPD3	22	24964106	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	448561	24964106	26340460	1055	50233											
ASCC2	84164	broad.mit.edu	37	chr22	30189452	30189452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtagacactgtggtaggGcaggctctcgcctggctgca	15	10	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:30189452G>A	uc003agr.2	-	17	1921	c.1816C>T	c.(1816-1818)CCC>TCC	p.P606S	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.P606S|ASCC2_uc011akr.1_Missense_Mutation_p.P530S	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CTGTGGTAGGGCAGGCTCTCG	0.607													A	30189452	G	A	30189452	3	1	73	1	0	0	0	0	1	0	0	0	1032	1203	42	2	473	2	ASCC2	22	30189452	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	5225346	30189452	21115114	1056	50234											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951991	30951991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacacgatgttgcgccgcGgctggcactcccccgccgag	13	16	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:30951991G>A	uc003aig.1	-	4	361	c.221C>T	c.(220-222)CCG>CTG	p.P74L	GAL3ST1_uc003aih.1_Missense_Mutation_p.P74L|GAL3ST1_uc003aii.1_Missense_Mutation_p.P74L|GAL3ST1_uc010gvz.1_Missense_Mutation_p.P74L	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	74	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						GTTGCGCCGCGGCTGGCACTC	0.672													A	30951991	G	A	30951991	3	1	73	1	0	0	0	0	1	0	0	0	6197	1116	39	1	1054	1	GAL3ST1	22	30951991	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	762539	30951991	20352575	1057	50235											
DEPDC5	9681	broad.mit.edu	37	chr22	32270319	32270319	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtactgcttcatcagcgcGgaggtggtacactggttggt	14	10	2	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:32270319G>A	uc003als.2	+	35	3673	c.3531G>A	c.(3529-3531)GCG>GCA	p.A1177A	DEPDC5_uc011als.1_Silent_p.A1108A|DEPDC5_uc011alu.1_Silent_p.A1208A|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Silent_p.A1199A|DEPDC5_uc003alu.2_Silent_p.A626A|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Silent_p.A475A|DEPDC5_uc011alx.1_Silent_p.A25A|DEPDC5_uc010gwk.2_Silent_p.A203A|DEPDC5_uc011aly.1_Silent_p.A25A	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1177	DEP.				intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						TCATCAGCGCGGAGGTGGTAC	0.592													A	32270319	G	A	32270319	2	1	73	1	0	0	0	0	0	0	0	1	4442	1103	39	1		1	DEPDC5	22	32270319	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1318328	32270319	19034247	1058	50236											
SSTR3	6753	broad.mit.edu	37	chr22	37602837	37602837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtgggctcctggctgcGcacacggcgggagggccgca	17	14	0	0	rs4988469	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:37602837G>A	uc003ara.2	-	2	1068	c.1006C>T	c.(1006-1008)CGC>TGC	p.R336C	SSTR3_uc003arb.2_Missense_Mutation_p.R336C	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	336	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1						TCCTGGCTGCGCACACGGCGG	0.542													A	37602837	G	A	37602837	3	1	73	1	0	0	0	0	1	0	0	0	15198	1087	38	1	254	1	SSTR3	22	37602837	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	5332518	37602837	13701729	1059	50237											
CYTH4	27128	broad.mit.edu	37	chr22	37699399	37699399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctttgtgtccatgaacCgcggcatcaacaatggtagc	11	11	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:37699399C>T	uc003arf.2	+	8	768	c.652C>T	c.(652-654)CGC>TGC	p.R218C	CYTH4_uc003are.2_Missense_Mutation_p.R218C|CYTH4_uc011amw.1_Missense_Mutation_p.R161C|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	218	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						GTCCATGAACCGCGGCATCAA	0.622													T	37699399	C	T	37699399	3	4	73	1	0	0	0	0	1	0	0	0	4206	652	23	1	682	1	CYTH4	22	37699399	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	96562	37699399	13605167	1060	50238											
ELFN2	114794	broad.mit.edu	37	chr22	37769395	37769395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcttgaggaaggacacgCgctggctcaggctgtcggca	17	11	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:37769395C>T	uc003asq.3	-	3	2966	c.2180G>A	c.(2179-2181)CGC>CAC	p.R727H		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	727	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					GAAGGACACGCGCTGGCTCAG	0.647													T	37769395	C	T	37769395	3	4	73	1	0	0	0	0	1	0	0	0	5058	768	27	1	286	1	ELFN2	22	37769395	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	69996	37769395	13535171	1061	50239											
SUN2	25777	broad.mit.edu	37	chr22	39146966	39146966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtcctcggtggccttgcGccccacaagcccgctggccc	12	18	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:39146966G>A	uc003awh.1	-	5	645	c.361C>T	c.(361-363)CGC>TGC	p.R121C	SUN2_uc011anz.1_Missense_Mutation_p.R156C|SUN2_uc011aoa.1_Intron|SUN2_uc003awi.1_Missense_Mutation_p.R121C|SUN2_uc010gxq.1_Missense_Mutation_p.R121C|SUN2_uc010gxr.1_Missense_Mutation_p.R121C|SUN2_uc010gxs.1_Missense_Mutation_p.R121C	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	unc-84 homolog B	121	Nuclear.|Ser-rich.|LMNA-binding (By similarity).				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			large_intestine(1)|skin(1)	2						GTGGCCTTGCGCCCCACAAGC	0.662													A	39146966	G	A	39146966	3	1	73	1	0	0	0	0	1	0	0	0	15389	1087	38	1	1852	1	SUN2	22	39146966	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	1377571	39146966	12157600	1062	50240											
MGAT3	4248	broad.mit.edu	37	chr22	39883815	39883815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccccggtacctcctgagcGcccgggagcgcacggggggc	16	17	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:39883815G>A	uc003axv.3	+	2	702	c.463G>A	c.(463-465)GCC>ACC	p.A155T	MGAT3_uc010gxy.2_Missense_Mutation_p.A155T	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	155	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					CCTCCTGAGCGCCCGGGAGCG	0.766													A	39883815	G	A	39883815	3	1	73	1	0	0	0	0	1	0	0	0	9544	1087	38	1	465	1	MGAT3	22	39883815	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	736849	39883815	11420751	1063	50241											
RANGAP1	5905	broad.mit.edu	37	chr22	41650390	41650390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgctgaggctcttcttcCtcctcctcctcctcttcttc	5	19	4	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:41650390C>T	uc003azs.2	-	10	2652	c.1182G>A	c.(1180-1182)GAG>GAA	p.E394E	RANGAP1_uc003azt.2_Silent_p.E394E|RANGAP1_uc003azu.2_Silent_p.E394E|RANGAP1_uc003azr.2_5'Flank|RANGAP1_uc010gyk.2_5'Flank|RANGAP1_uc011aoz.1_Silent_p.E339E	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	394	Asp/Glu-rich (highly acidic).|Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						Gctcttcttcctcctcctcct	0.264													T	41650390	C	T	41650390	2	4	73	1	0	0	0	0	0	0	0	1	13033	680	24	4		4	RANGAP1	22	41650390	Silent	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1766575	41650390	9654176	1064	50242											
SCUBE1	80274	broad.mit.edu	37	chr22	43634962	43634963	+	Splice_Site	INS	-	-	G													tattgactgcgcacgtctctINSggggagggaaagagacagag							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:43634962_43634963insG	uc003bdt.1	-	7	816	c.728_splice	c.e7-1	p.E243_splice	SCUBE1_uc003bdu.1_Intron	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1						adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				CGCACGTCTCTGGGGAGGGAAA	0.485													G	43634963	-	G	43634962	8	5	73	1	0	1	1	0	0	0	1	0	13944	1594	55	0	2304	0	SCUBE1	22	43634962	Splice_Site	INS	-	TCGA-BR-8360-01A-11D-2340-08	1984572	43634962	7669604	1065	50243	198	2									
SCUBE1	80274	broad.mit.edu	37	chr22	43634963	43634964	+	Splice_Site	INS	-	-	G													attgactgcgcacgtctctgINSgggagggaaagagacagaga							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:43634962_43634963T>TG	uc003bdt.2	-	7	855	c.728_splice	c.e7-1	p.E243_splice	SCUBE1_uc003bdu.2_Intron	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	243	EGF-like 6 (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CGCACGTCTCTGGGGAGGGAAA	0.589													G	43634964	-	G	43634963	8	5	73	1	0	1	1	0	0	0	1	0	13944	1363	47	0		0	SCUBE1	22	43634963	Splice_Site	INS	-	TCGA-BR-8360-01A-11D-2340-08	1	43634963	7669603	1066	50244	198	2									
ALG12	79087	broad.mit.edu	37	chr22	50304114	50304114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcacattgggcagtgtcCgcgtgcagtagaacatcagg	13	11	1	1	rs121907932		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:50304114C>T	uc003biy.2	-	4	711	c.437G>A	c.(436-438)CGG>CAG	p.R146Q		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	alpha-1,6-mannosyltransferase ALG12	146	Helical; (Potential).		R -> Q (in CDG1G).		dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane					0		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GGGCAGTGTCCGCGTGCAGTA	0.637													T	50304114	C	T	50304114	3	4	73	1	0	0	0	0	1	0	0	0	514	652	23	1	1057	1	ALG12	22	50304114	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	6669151	50304114	1000452	1067	50245											
LMF2	91289	broad.mit.edu	37	chr22	50942825	50942825	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctgggctcggacgtaggtGggcggctgcttgtggaaggg	21	8	0	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:50942825G>T	uc003blp.2	-	12	1693	c.1662C>A	c.(1660-1662)CCC>CCA	p.P554P	LMF2_uc010hba.2_Silent_p.P376P|LMF2_uc003blo.2_Silent_p.P529P	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	554						endoplasmic reticulum membrane|integral to membrane				breast(1)	1		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGACGTAGGTGGGCGGCTGCT	0.632													T	50942825	G	T	50942825	2	4	73	1	0	0	0	0	0	0	0	1	8846	1335	47	5		5	LMF2	22	50942825	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	638711	50942825	361741	1068	50246											
ASMTL	8623	broad.mit.edu	37	chrX	1536899	1536899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctgcactgcctgcggtcCggggggttggaagtgggcgg	20	9	1	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:1536899C>T	uc004cpx.1	-	11	1600	c.1489G>A	c.(1489-1491)GGA>AGA	p.G497R	ASMTL_uc011mhe.1_Missense_Mutation_p.G421R|ASMTL_uc004cpy.1_Missense_Mutation_p.G481R|ASMTL_uc011mhf.1_Missense_Mutation_p.G439R	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	497	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCTGCGGTCCGGGGGGTTGG	0.597													T	1536899	C	T	1536899	3	4	73	1	0	0	0	0	1	0	0	0	1046	661	23	1	388	1	ASMTL	23	1536899	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08		1536899	153733661	1069	50247											
ACOT9	23597	broad.mit.edu	37	chrX	23740851	23740851	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcggagtggattttgttGtgcatgtaacaaataagaac	12	4	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:23740851G>A	uc004dap.2	-	6	539	c.393C>T	c.(391-393)CAC>CAT	p.H131H	ACOT9_uc004dao.2_Silent_p.H140H|ACOT9_uc004daq.2_Silent_p.H89H|ACOT9_uc004dar.2_Silent_p.H71H|ACOT9_uc011mjt.1_RNA|ACOT9_uc004das.2_Silent_p.H71H|ACOT9_uc004dat.1_Silent_p.H131H	NM_001033583	NP_001028755	Q9Y305	ACOT9_HUMAN	acyl-Coenzyme A thioesterase 2, mitochondrial	131					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(2)|pancreas(1)	3						GGATTTTGTTGTGCATGTAAC	0.368													A	23740851	G	A	23740851	2	1	73	1	0	0	0	0	0	0	0	1	157	1368	48	4		4	ACOT9	23	23740851	Silent	SNP	G	TCGA-BR-8360-01A-11D-2340-08	22203952	23740851	131529709	1070	50248											
NDUFB11	54539	broad.mit.edu	37	chrX	47001792	47001792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggaaggccattggcctctCggtatttcacaagcctctca	10	12	3	0			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:47001792C>T	uc004dhd.2	-	3	917	c.386G>A	c.(385-387)CGA>CAA	p.R129Q	NDUFB11_uc004dhc.2_Missense_Mutation_p.R139Q|RBM10_uc004dhe.1_5'Flank|RBM10_uc004dhf.2_5'Flank|RBM10_uc004dhg.2_5'Flank|RBM10_uc004dhh.2_5'Flank|RBM10_uc010nhq.2_5'Flank|RBM10_uc004dhi.2_5'Flank	NM_001135998	NP_001129470	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	129					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I					0						ATTGGCCTCTCGGTATTTCAC	0.542													T	47001792	C	T	47001792	3	4	73	1	0	0	0	0	1	0	0	0	10280	884	31	1	79	1	NDUFB11	23	47001792	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	23260941	47001792	108268768	1071	50249											
ARAF	369	broad.mit.edu	37	chrX	47426121	47426126	+	In_Frame_Del	DEL	CCACTC	CCACTC	-													acagcgcatccgctccacgtCcactcccaacgtccatatgg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:47426121_47426126delCCACTC	uc011mlq.1	+	7	774_779	c.641_646delCCACTC	c.(640-648)TCCACTCCC>TCC	p.TP215del	ARAF_uc011mln.1_Intron|ARAF_uc011mlo.1_In_Frame_Del_p.TP81del|ARAF_uc011mlp.1_In_Frame_Del_p.TP215del|ARAF_uc004dic.1_5'UTR	NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	215_216					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	CGCTCCACGTCCACTCCCAACGTCCA	0.66													-	47426126	CCACTC	-	47426121	7	5	73	1	0	1	0	1	0	0	0	0	837	855	30	0	663	0	ARAF	23	47426121	In_Frame_Del	DEL	CCACTC	TCGA-BR-8360-01A-11D-2340-08	424329	47426121	107844439	1072	50250											
WAS	7454	broad.mit.edu	37	chrX	48544502	48544502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcccacccctgcccctgCatccaggtggagaccaagga	11	17	0	1	rs145040665	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:48544502C>T	uc004dkm.3	+	6	595	c.538C>T	c.(538-540)CAT>TAT	p.H180Y		NM_000377	NP_000368	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome protein	180					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			ovary(1)	1		all_lung(315;1.27e-10)				CCTGCCCCTGCATCCAGGTGG	0.423			Mis|N|F|S			lymphoma			Wiskott-Aldrich_syndrome				T	48544502	C	T	48544502	3	4	73	1	0	0	0	0	1	0	0	0	17248	710	25	2	560	2	WAS	23	48544502	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1118381	48544502	106726058	1073	50251											
KDM5C	8242	broad.mit.edu	37	chrX	53222309	53222309	+	Frame_Shift_Del	DEL	G	G	-													cagtggtggggatgggtgcaGgggggccctcacccccagtc							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:53222309delG	uc004drz.2	-	26	5056	c.4523delC	c.(4522-4524)CCTfs	p.P1508fs	KDM5C_uc011moc.1_Intron|KDM5C_uc011mod.1_Intron|KDM5C_uc004dsa.2_Frame_Shift_Del_p.P1507fs|uc004dsb.1_Intron	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	1508					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						GATGGGTGCAGGGGGGCCCTC	0.662			N|F|S		clear cell renal carcinoma								-	53222309	G	-	53222309	7	5	73	1	0	1	0	1	0	0	0	0	8135	1000	35	0	261	0	KDM5C	23	53222309	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	4677807	53222309	102048251	1074	50252											
ALAS2	212	broad.mit.edu	37	chrX	55040074	55040074	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttgctgttgagtgctgcaTtgcccacctggactcaggag	13	11	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:55040074T>G	uc004dua.3	-	10	1583	c.1445A>C	c.(1444-1446)AAT>ACT	p.N482T	ALAS2_uc004dub.3_Missense_Mutation_p.N469T|ALAS2_uc004dud.3_Missense_Mutation_p.N445T	NM_000032	NP_000023	P22557	HEM0_HUMAN	5-aminolevulinate synthase 2 isoform a	482					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(1)	1					Glycine(DB00145)	GAGTGCTGCATTGCCCACCTG	0.542													G	55040074	T	G	55040074	3	3	73	1	0	0	0	0	1	0	0	0	485	1493	52	5	326	5	ALAS2	23	55040074	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	1817765	55040074	100230486	1075	50253											
OPHN1	4983	broad.mit.edu	37	chrX	67273626	67273626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttttctcctggaggccGcactttgctgaaactgtcag	11	11	2	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:67273626G>A	uc004dww.3	-	22	2479	c.2185C>T	c.(2185-2187)CGG>TGG	p.R729W	OPHN1_uc011mpg.1_Missense_Mutation_p.R621W	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	729	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2						CCTGGAGGCCGCACTTTGCTG	0.547													A	67273626	G	A	67273626	3	1	73	1	0	0	0	0	1	0	0	0	10875	1086	38	1	235	1	OPHN1	23	67273626	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	12233552	67273626	87996934	1076	50254											
SLC7A3	84889	broad.mit.edu	37	chrX	70147375	70147375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtggctatgattggggtgCgtgtgccggtgtggatccga	19	7	0	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:70147375C>T	uc004dyn.2	-	7	1300	c.1142G>A	c.(1141-1143)CGC>CAC	p.R381H	SLC7A3_uc004dyo.2_Missense_Mutation_p.R381H	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid	381	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				ovary(1)|kidney(1)	2	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GATTGGGGTGCGTGTGCCGGT	0.557													T	70147375	C	T	70147375	3	4	73	1	0	0	0	0	1	0	0	0	14698	768	27	1	741	1	SLC7A3	23	70147375	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2873749	70147375	85123185	1077	50255											
IL2RG	3561	broad.mit.edu	37	chrX	70327614	70327615	+	Frame_Shift_Ins	INS	-	-	G													aggctttagggtgtaacatgINSggggggcccagtaggggcta							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:70327613_70327614T>TG	uc004dyw.2	-	7	1174_1175	c.1082_1083A>CA	c.(1081-1083)ccafs	p.P361fs	CXorf65_uc011mpo.2_5'Flank|CXorf65_uc011mpp.2_5'Flank|IL2RG_uc004dyv.2_Frame_Shift_Ins_p.P90fs|IL2RG_uc004dyx.2_Frame_Shift_Ins_p.P171fs	NM_000206	NP_000197	P31785	IL2RG_HUMAN	Homo sapiens interleukin 2 receptor, gamma (IL2RG), mRNA.	361					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGGTGTAACATGGGGGGGCCCA	0.584									Severe Combined Immunodeficiency, X-linked				G	70327615	-	G	70327614	7	5	73	1	0	1	1	0	0	0	0	0	7688	1348	47	0	31	0	IL2RG	23	70327614	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	180239	70327614	84942946	1078	50256											
PHKA1	5255	broad.mit.edu	37	chrX	71801013	71801013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaacatggtatcatctgCgccaagggttttctgtttgg	11	9	3	0	rs144813238	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:71801013C>T	uc004eax.3	-	32	3812	c.3511G>A	c.(3511-3513)GCA>ACA	p.A1171T	PHKA1_uc004eay.3_Missense_Mutation_p.A1158T|PHKA1_uc011mqi.1_Missense_Mutation_p.A1099T|PHKA1_uc010nll.2_Missense_Mutation_p.A203T	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	1171					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					GTATCATCTGCGCCAAGGGTT	0.438													T	71801013	C	T	71801013	3	4	73	1	0	0	0	0	1	0	0	0	11843	768	27	1	164	1	PHKA1	23	71801013	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	1473399	71801013	83469547	1079	50257											
MAGEE2	139599	broad.mit.edu	37	chrX	75004754	75004754	+	Frame_Shift_Del	DEL	G	G	-													gattggcgcctgagggcactGgggggcatcaacgactagca					rs61732441	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:75004754delG	uc004ecj.1	-	1	318	c.133delC	c.(133-135)CAGfs	p.Q45fs		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	45										ovary(1)|skin(1)	2						TGAGGGCACTGGGGGGCATCA	0.587													-	75004754	G	-	75004754	7	5	73	1	0	1	0	1	0	0	0	0	9186	1357	47	0	1442	0	MAGEE2	23	75004754	Frame_Shift_Del	DEL	G	TCGA-BR-8360-01A-11D-2340-08	3203741	75004754	80265806	1080	50258											
NXF2B	728343	broad.mit.edu	37	chrX	101623733	101623733	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatctccatttggcctggcTtcaacttattcttcacagag	7	12	4	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:101623733T>G	uc004ejb.3	-	19	2501	c.629A>C	c.(628-630)AAG>ACG	p.K210T	NXF2B_uc004eiz.3_Missense_Mutation_p.K122T|NXF2B_uc004eja.3_Missense_Mutation_p.K210T|NXF2_uc004eiy.3_Missense_Mutation_p.K210T	NM_001099686	NP_001093156	Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B	210					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|RNA binding			ovary(1)	1						TTGGCCTGGCTTCAACTTATT	0.478													G	101623733	T	G	101623733	3	3	73	1	0	0	0	0	1	0	0	0	10784	1609	56	5	3280	5	NXF2B	23	101623733	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	26618979	101623733	53646827	1081	50259											
GPRASP1	9737	broad.mit.edu	37	chrX	101909850	101909850	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccaggcacagggccaagCgagaagcttgcattgatttc	14	10	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:101909850C>T	uc004ejj.3	+	5	1810	c.1009C>T	c.(1009-1011)CGA>TGA	p.R337*	GPRASP1_uc004eji.3_Nonsense_Mutation_p.R337*|GPRASP1_uc010nod.2_Nonsense_Mutation_p.R337*	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	337						cytoplasm	protein binding			ovary(1)|lung(1)	2						CAGGGCCAAGCGAGAAGCTTG	0.478													T	101909850	C	T	101909850	4	4	73	1	0	0	0	0	0	1	0	0	6722	760	27	1	1011	1	GPRASP1	23	101909850	Nonsense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	286117	101909850	53360710	1082	50260											
RGAG1	57529	broad.mit.edu	37	chrX	109695155	109695155	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttccagcctctggagccaTgaccacctcactgatgacag	9	14	2	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:109695155T>C	uc004eor.1	+	3	1556	c.1310T>C	c.(1309-1311)ATG>ACG	p.M437T	RGAG1_uc011msr.1_Missense_Mutation_p.M437T	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	437										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						TCTGGAGCCATGACCACCTCA	0.507													C	109695155	T	C	109695155	3	2	73	1	0	0	0	0	1	0	0	0	13274	1464	51	3	1312	3	RGAG1	23	109695155	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08	7785305	109695155	45575405	1083	50261											
UPF3B	65109	broad.mit.edu	37	chrX	118971950	118971950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctttctcgaagtatgcGctcctgatctcgttcatatt	6	12	4	1	rs139646537	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:118971950G>A	uc004erz.1	-	10	1149	c.1072C>T	c.(1072-1074)CGC>TGC	p.R358C	UPF3B_uc004esa.1_Missense_Mutation_p.R345C	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	358	Sufficient for association with EJC core.			R -> H (in Ref. 4; AAI21018).	mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(2)|kidney(1)	3						CGAAGTATGCGCTCCTGATCT	0.473													A	118971950	G	A	118971950	3	1	73	1	0	0	0	0	1	0	0	0	17003	1087	38	1	387	1	UPF3B	23	118971950	Missense_Mutation	SNP	G	TCGA-BR-8360-01A-11D-2340-08	9276795	118971950	36298610	1084	50262											
STAG2	10735	broad.mit.edu	37	chrX	123196991	123196991	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtagatgcagaaaaggtgaCtaacttgttgcagttgcctc	11	7	0	3			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:123196991C>G	uc004etz.3	+	18	2096	c.1757C>G	c.(1756-1758)ACT>AGT	p.T586S	STAG2_uc004eua.2_Missense_Mutation_p.T586S|STAG2_uc004eub.2_Missense_Mutation_p.T586S|STAG2_uc004euc.2_Missense_Mutation_p.T586S|STAG2_uc004eud.2_Missense_Mutation_p.T586S|STAG2_uc004eue.2_Missense_Mutation_p.T586S	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	586					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						GAAAAGGTGACTAACTTGTTG	0.308													G	123196991	C	G	123196991	3	3	73	1	0	0	0	0	1	0	0	0	15242	565	20	5	1823	5	STAG2	23	123196991	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	4225041	123196991	32073569	1085	50263											
ODZ1	10178	broad.mit.edu	37	chrX	123680890	123680890	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagagaggacttatatAacagttgctttgttgacaac	10	7	0	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:123680890A>T	uc004euj.2	-	15	2549	c.2485T>A	c.(2485-2487)TAT>AAT	p.Y829N	ODZ1_uc011muj.1_Missense_Mutation_p.Y828N|ODZ1_uc010nqy.2_Missense_Mutation_p.Y829N	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	829	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						GGACTTATATAACAGTTGCTT	0.403													T	123680890	A	T	123680890	3	4	73	1	0	0	0	0	1	0	0	0	10834	362	13	5	5785	5	ODZ1	23	123680890	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	483899	123680890	31589670	1086	50264											
XPNPEP2	7512	broad.mit.edu	37	chrX	128873107	128873107	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctgctcgagcccaggaaaGgcctgaaggaagaggccggg	17	10	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:128873107G>T	uc004eut.1	+	1	162	c.-82G>T	c.(-84--80)AAGGC>AATGC		XPNPEP2_uc011mum.1_Translation_Start_Site	NM_003399	NP_003390	O43895	XPP2_HUMAN	X-prolyl aminopeptidase 2, membrane-bound						cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0						GCCCAGGAAAGGCCTGAAGGA	0.637													T	128873107	G	T	128873107	1	4	73	1	0	0	0	0	0	0	0	0	17440	1015	35	5		5	XPNPEP2	23	128873107	Translation_Start_Site	SNP	G	TCGA-BR-8360-01A-11D-2340-08	5192217	128873107	26397453	1087	50265											
SASH3	54440	broad.mit.edu	37	chrX	128922006	128922006	+	Frame_Shift_Del	DEL	C	C	-													tgccaaatccaaacccagctCccccgtggtgagcgagaagg							TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:128922006delC	uc011mun.1	+	2	295	c.113delC	c.(112-114)TCCfs	p.S38fs	SASH3_uc004euu.2_Frame_Shift_Del_p.S38fs|SASH3_uc011muo.1_5'UTR	NM_018990	NP_061863	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	38										ovary(2)|pancreas(1)	3						AAACCCAGCTCCCCCGTGGTG	0.567													-	128922006	C	-	128922006	7	5	73	1	0	1	0	1	0	0	0	0	13849	855	30	0	119	0	SASH3	23	128922006	Frame_Shift_Del	DEL	C	TCGA-BR-8360-01A-11D-2340-08	48899	128922006	26348554	1088	50266											
ELF4	2000	broad.mit.edu	37	chrX	129201300	129201300	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaactggcgttcagggggAaagaggcctgcaaagtgaag	17	6	1	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:129201300A>G	uc004evd.3	-	9	1773	c.1388T>C	c.(1387-1389)TTC>TCC	p.F463S	ELF4_uc004eve.3_Missense_Mutation_p.F463S	NM_001421	NP_001412	Q99607	ELF4_HUMAN	E74-like factor 4	463					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GTTCAGGGGGAAAGAGGCCTG	0.602			T	ERG	AML								G	129201300	A	G	129201300	3	3	73	1	0	0	0	0	1	0	0	0	5056	246	9	3	607	3	ELF4	23	129201300	Missense_Mutation	SNP	A	TCGA-BR-8360-01A-11D-2340-08	279294	129201300	26069260	1089	50267											
PRRG3	79057	broad.mit.edu	37	chrX	150869297	150869298	+	Frame_Shift_Ins	INS	-	-	G													gtggtgctggggcccagtcgINSggggggcaggaccacagtcc					rs139807152	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:150869296_150869297C>CG	uc022cgt.1	+	3	536_537	c.487_488C>CG	c.(487-489)cggfs	p.R163fs	PRRG3_uc004few.2_Frame_Shift_Ins_p.R163fs	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	163						extracellular region|integral to membrane	calcium ion binding	p.R163P(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGCCCAGTCGGGGGGGCAGG	0.673													G	150869298	-	G	150869297	7	5	73	1	0	1	1	0	0	0	0	0	12607	1116	39	0	498	0	PRRG3	23	150869297	Frame_Shift_Ins	INS	-	TCGA-BR-8360-01A-11D-2340-08	21667997	150869297	4401263	1090	50268											
G6PD	2539	broad.mit.edu	37	chrX	153762671	153762671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccggtcagagctctgcaggtCcctcccgaagggcttctcca	11	16	3	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:153762671C>T	uc004fly.1	-	6	639	c.526G>A	c.(526-528)GAC>AAC	p.D176N	G6PD_uc004flx.1_Missense_Mutation_p.D206N	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase isoform b	176			D -> G (in Shinshu; class I).		cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			ovary(4)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCTGCAGGTCCCTCCCGAAG	0.617													T	153762671	C	T	153762671	3	4	73	1	0	0	0	0	1	0	0	0	6146	855	30	4	1053	4	G6PD	23	153762671	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	2893374	153762671	1507889	1091	50269											
IKBKG	8517	broad.mit.edu	37	chrX	153770626	153770626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaagatgctgttccaggCgcacactagtctacaaggcc	12	11	1	1			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:153770626C>T	uc011mzr.1	+	1	168	c.148C>T	c.(148-150)CGC>TGC	p.R50C	G6PD_uc004flx.1_Intron|G6PD_uc004fly.1_Intron	NM_001099856	NP_001093326	Q9Y6K9	NEMO_HUMAN	inhibitor of kappa light polypeptide gene	Error:Variant_position_missing_in_Q9Y6K9_after_alignment					activation of MAPK activity|induction of apoptosis|innate immune response|interspecies interaction between organisms|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	metal ion binding|protein domain specific binding|signal transducer activity				0	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGTTCCAGGCGCACACTAGT	0.572									Incontinentia_Pigmenti_type_2				T	153770626	C	T	153770626	3	4	73	1	0	0	0	0	1	0	0	0	7613	768	27	1	150	1	IKBKG	23	153770626	Missense_Mutation	SNP	C	TCGA-BR-8360-01A-11D-2340-08	7955	153770626	1499934	1092	50270											
UTY	7404	broad.mit.edu	37	chrY	15522892	15522892	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttaaactagacttgtagTctgtgttcactttgaacatg	7	8	2	2			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrY:15522892T>C	uc004fsx.1	-	6	1541	c.536A>G	c.(535-537)GAC>GGC	p.D179G	UTY_uc004fsy.2_Missense_Mutation_p.D179G|UTY_uc004fsz.2_Missense_Mutation_p.D179G	NM_007125	NP_009056	O14607	UTY_HUMAN	tetratricopeptide repeat protein isoform 3	179	TPR 3.				chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						AGACTTGTAGTCTGTGTTCAC	0.408													C	15522892	T	C	15522892	3	2	73	1	0	0	0	0	1	0	0	0	17104	1667	58	3	3862	3	UTY	24	15522892	Missense_Mutation	SNP	T	TCGA-BR-8360-01A-11D-2340-08		15522892	43850674	1093	50271											
DVL1	1855	broad.mit.edu	37	chr1	1275518	1275518	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccgtctccacggtcgttgCtctgccccacgatgctgatg	11	16	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:1275518C>A	uc001aer.3	-	8	856	c.809G>T	c.(808-810)AGC>ATC	p.S270I	DVL1_uc002quu.2_5'UTR|DVL1_uc009vka.2_5'UTR|DVL1_uc001aeu.1_5'UTR	NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	270	PDZ.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACGGTCGTTGCTCTGCCCCAC	0.657													A	1275518	C	A	1275518	3	1	74	1	0	0	0	0	1	0	0	0	4835	797	28	5	1235	5	DVL1	1	1275518	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08		1275518	247975103	1	50272											
MXRA8	54587	broad.mit.edu	37	chr1	1290695	1290695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgatggtgcaggttgcagGtgtacagccccgcgtccgtc	15	11	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:1290695G>A	uc001aew.2	-	4	438	c.407C>T	c.(406-408)ACC>ATC	p.T136I	MXRA8_uc001aex.3_Missense_Mutation_p.T136I|MXRA8_uc001aey.3_Missense_Mutation_p.T136I|MXRA8_uc010nyl.1_Missense_Mutation_p.T136I|MXRA8_uc001aez.2_Missense_Mutation_p.T35I|MXRA8_uc001afa.2_Missense_Mutation_p.T127I	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	136	Extracellular (Potential).|Ig-like V-type 1.					integral to membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CAGGTTGCAGGTGTACAGCCC	0.517													A	1290695	G	A	1290695	3	1	74	1	0	0	0	0	1	0	0	0	10005	1261	44	4	949	4	MXRA8	1	1290695	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	15177	1290695	247959926	2	50273											
KIAA0562	9731	broad.mit.edu	37	chr1	3768978	3768978	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttgtggggcattctgcaCgtttgggctgtttataagag	13	6	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:3768978C>T	uc001aky.2	-	2	353	c.-6G>A	c.(-8--4)ACGTG>ACATG		KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Translation_Start_Site	NM_014704	NP_055519	O60308	CE104_HUMAN	glycine-, glutamate-,							centriole	binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)		GCATTCTGCACGTTTGGGCTG	0.463													T	3768978	C	T	3768978	1	4	74	1	0	0	0	0	0	0	0	0	8184	551	19	1		1	KIAA0562	1	3768978	Translation_Start_Site	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2478283	3768978	245481643	3	50274											
C1orf174	339448	broad.mit.edu	37	chr1	3809468	3809468	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacatgctgtcttggcagaCgtggaaccagcaacttcctg	11	11	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:3809468C>T	uc001alf.2	-	2	215	c.108G>A	c.(106-108)ACG>ACA	p.T36T	C1orf174_uc009vls.2_RNA	NM_207356	NP_997239	Q8IYL3	CA174_HUMAN	hypothetical protein LOC339448	36											0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		TCTTGGCAGACGTGGAACCAG	0.542													T	3809468	C	T	3809468	2	4	74	1	0	0	0	0	0	0	0	1	2015	523	19	1		1	C1orf174	1	3809468	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	40490	3809468	245441153	4	50275											
AJAP1	55966	broad.mit.edu	37	chr1	4832466	4832466	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagcctggacatattcacGgcctataacgagaccctgca	9	13	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:4832466G>T	uc001alm.1	+	4	1425	c.1044G>T	c.(1042-1044)ACG>ACT	p.T348T	AJAP1_uc001aln.2_Silent_p.T348T	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	348	Targeting signals.|Cytoplasmic (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACATATTCACGGCCTATAACG	0.612													T	4832466	G	T	4832466	2	4	74	1	0	0	0	0	0	0	0	1	438	1103	39	5		5	AJAP1	1	4832466	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1022998	4832466	244418155	5	50276											
ESPN	83715	broad.mit.edu	37	chr1	6512002	6512002	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaagcttggttcccgtgcCgcccactactcctgcgccgg	12	16	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:6512002C>A	uc001amy.2	+	10	2339	c.2171C>A	c.(2170-2172)CCG>CAG	p.P724Q	ESPN_uc001amz.2_Missense_Mutation_p.P158Q	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	espin	724	Pro-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding				0	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GTTCCCGTGCCGCCCACTACT	0.677													A	6512002	C	A	6512002	3	1	74	1	0	0	0	0	1	0	0	0	5254	652	23	5	2209	5	ESPN	1	6512002	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1679536	6512002	242738619	6	50277											
UBE4B	10277	broad.mit.edu	37	chr1	10166513	10166513	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccccaagtccccctgccctCgccagtagcccccaagcagt	7	21	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:10166513C>T	uc001aqs.3	+	7	1781	c.1068C>T	c.(1066-1068)CTC>CTT	p.L356L	UBE4B_uc001aqr.3_Intron|UBE4B_uc010oai.1_Intron|UBE4B_uc010oaj.1_Intron	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	356					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CCCCTGCCCTCGCCAGTAGCC	0.672													T	10166513	C	T	10166513	2	4	74	1	0	0	0	0	0	0	0	1	16880	871	31	1		1	UBE4B	1	10166513	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3654511	10166513	239084108	7	50278											
CASZ1	54897	broad.mit.edu	37	chr1	10714551	10714551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcttcggtggctcggaagCgctggaagccgtcgttaatg	15	9	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:10714551C>T	uc001aro.2	-	10	2083	c.1763G>A	c.(1762-1764)CGC>CAC	p.R588H	CASZ1_uc001arp.1_Missense_Mutation_p.R588H|CASZ1_uc009vmx.2_Missense_Mutation_p.R612H	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGCTCGGAAGCGCTGGAAGCC	0.582													T	10714551	C	T	10714551	3	4	74	1	0	0	0	0	1	0	0	0	2685	768	27	1	3568	1	CASZ1	1	10714551	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	548038	10714551	238536070	8	50279											
MTOR	2475	broad.mit.edu	37	chr1	11273588	11273588	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctcaatgagaagaatgatCgtgctctgaattgaggtgtt	12	5	2	5	rs147272284	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:11273588C>T	uc001asd.2	-	21	3274	c.3153G>A	c.(3151-3153)ACG>ACA	p.T1051T		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	1051					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						GAAGAATGATCGTGCTCTGAA	0.458													T	11273588	C	T	11273588	2	4	74	1	0	0	0	0	0	0	0	1	9954	871	31	1		1	MTOR	1	11273588	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	559037	11273588	237977033	9	50280											
MTOR	2475	broad.mit.edu	37	chr1	11288885	11288885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgactggtctcggaagatcCgcatcagggccaccatggac	13	12	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:11288885C>T	uc001asd.2	-	19	2991	c.2870G>A	c.(2869-2871)CGG>CAG	p.R957Q		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	957					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						TCGGAAGATCCGCATCAGGGC	0.507													T	11288885	C	T	11288885	3	4	74	1	0	0	0	0	1	0	0	0	9954	652	23	1	4939	1	MTOR	1	11288885	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	15297	11288885	237961736	10	50281											
CLCN6	1185	broad.mit.edu	37	chr1	11888655	11888655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaagtaccgtatgcgaaaCgtgcacccgaaacctaagct	9	12	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:11888655C>T	uc001ate.3	+	12	1208	c.1095C>T	c.(1093-1095)AAC>AAT	p.N365N	CLCN6_uc009vnh.1_Intron|CLCN6_uc010oat.1_Silent_p.N81N|CLCN6_uc010oau.1_Silent_p.N343N	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	365					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GTATGCGAAACGTGCACCCGA	0.597													T	11888655	C	T	11888655	2	4	74	1	0	0	0	0	0	0	0	1	3467	535	19	1		1	CLCN6	1	11888655	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	599770	11888655	237361966	11	50282											
CLCN6	1185	broad.mit.edu	37	chr1	11894370	11894370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttgggcggggtggtccGcatgaccatcagcctcacgg	14	12	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:11894370G>A	uc001ate.3	+	16	1717	c.1604G>A	c.(1603-1605)CGC>CAC	p.R535H	CLCN6_uc010oat.1_Missense_Mutation_p.R251H|CLCN6_uc010oau.1_Missense_Mutation_p.R513H	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	535					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGTGGTCCGCATGACCATC	0.557													A	11894370	G	A	11894370	3	1	74	1	0	0	0	0	1	0	0	0	3467	1087	38	1	1676	1	CLCN6	1	11894370	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	5715	11894370	237356251	12	50283											
CLCN6	1185	broad.mit.edu	37	chr1	11897527	11897527	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttgtcaccctgcttgtcCgaggagtttgttactctgaa	10	10	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:11897527C>T	uc001ate.3	+	20	2379	c.2266C>T	c.(2266-2268)CGA>TGA	p.R756*	CLCN6_uc010oat.1_Nonsense_Mutation_p.R472*|CLCN6_uc010oau.1_Nonsense_Mutation_p.R734*|CLCN6_uc010oav.1_5'Flank|CLCN6_uc010oaw.1_5'Flank|CLCN6_uc010oax.1_5'Flank|CLCN6_uc010oay.1_5'Flank|CLCN6_uc010oaz.1_5'Flank|CLCN6_uc010oba.1_5'Flank	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	756	Cytoplasmic (By similarity).				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCTTGTCCGAGGAGTTTG	0.607													T	11897527	C	T	11897527	4	4	74	1	0	0	0	0	0	1	0	0	3467	644	23	1	2354	1	CLCN6	1	11897527	Nonsense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3157	11897527	237353094	13	50284											
PRAMEF2	65122	broad.mit.edu	37	chr1	12920014	12920014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acacgtcagataatgaactcGagggatggttagtcaccaga	11	8	2	3	rs3204808		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:12920014G>A	uc001aum.1	+	3	841	c.754G>A	c.(754-756)GAG>AAG	p.E252K		NM_023014	NP_075390	O60811	PRAM2_HUMAN	PRAME family member 2	252											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TAATGAACTCGAGGGATGGTT	0.433													A	12920014	G	A	12920014	3	1	74	1	0	0	0	0	1	0	0	0	12435	1059	37	1	760	1	PRAMEF2	1	12920014	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1022487	12920014	236330607	14	50285											
RSC1A1	6248	broad.mit.edu	37	chr1	15986518	15986518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcgcattgaacctaaagCtgtgaaggctttgaaggctt	11	7	0	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:15986518C>T	uc010obn.1	+	1	155	c.155C>T	c.(154-156)GCT>GTT	p.A52V	DDI2_uc001awx.1_3'UTR|DDI2_uc009voj.1_3'UTR	NM_006511	NP_006502	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1,	52					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			ovary(1)	1		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAACCTAAAGCTGTGAAGGCT	0.448													T	15986518	C	T	15986518	3	4	74	1	0	0	0	0	1	0	0	0	13698	797	28	2	157	2	RSC1A1	1	15986518	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3066504	15986518	233264103	15	50286											
SPEN	23013	broad.mit.edu	37	chr1	16260655	16260655	+	Frame_Shift_Del	DEL	A	A	-													tcacagaagataaccttggcAaaaccagctcctcaaaccct							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:16260654_16260654CA>C	uc001axk.1	+	10	8123	c.7919_7919CA>C	c.(7918-7920)gcafs	p.A2640fs	SPEN_uc010obp.1_Frame_Shift_Del_p.A2599fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2640	RID.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATAACCTTGGCAAAACCAGCT	0.527													-	16260655	A	-	16260655	7	5	74	1	0	1	0	1	0	0	0	0	15037	117	5	0	7962	0	SPEN	1	16260655	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	274137	16260655	232989966	16	50287											
CLCNKA	1187	broad.mit.edu	37	chr1	16354587	16354587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttcatcaagaccaatcGgtacagctccaaactgctgg	8	13	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:16354587G>A	uc001axu.2	+	10	1021	c.941G>A	c.(940-942)CGG>CAG	p.R314Q	CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.R314Q|CLCNKA_uc010obw.1_Missense_Mutation_p.R271Q|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank	NM_004070	NP_004061	P51800	CLCKA_HUMAN	chloride channel Ka isoform 1	314					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	AAGACCAATCGGTACAGCTCC	0.562													A	16354587	G	A	16354587	3	1	74	1	0	0	0	0	1	0	0	0	3469	1116	39	1	975	1	CLCNKA	1	16354587	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	93932	16354587	232896034	17	50288											
CLCNKB	1188	broad.mit.edu	37	chr1	16380184	16380184	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaccacagcatcaccacacTggccaaggacatgccactgg	9	15	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:16380184T>C	uc001axw.3	+	16	1753	c.1673T>C	c.(1672-1674)CTG>CCG	p.L558P	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.L558P|CLCNKB_uc001axy.3_Missense_Mutation_p.L389P	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	558	CBS 1.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ATCACCACACTGGCCAAGGAC	0.622													C	16380184	T	C	16380184	3	2	74	1	0	0	0	0	1	0	0	0	3470	1580	55	3	1879	3	CLCNKB	1	16380184	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	25597	16380184	232870437	18	50289											
ATP13A2	23400	broad.mit.edu	37	chr1	17331924	17331924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgggccaggttgcagggcCggagccgcagccgcaccccc	16	17	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:17331924C>T	uc001baa.2	-	3	423	c.233G>A	c.(232-234)CGG>CAG	p.R78Q	ATP13A2_uc001bab.2_Missense_Mutation_p.R78Q|ATP13A2_uc001bac.2_Missense_Mutation_p.R78Q	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	78	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GTTGCAGGGCCGGAGCCGCAG	0.572													T	17331924	C	T	17331924	3	4	74	1	0	0	0	0	1	0	0	0	1124	652	23	1	3653	1	ATP13A2	1	17331924	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	951740	17331924	231918697	19	50290											
SDHB	6390	broad.mit.edu	37	chr1	17380511	17380511	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggagagggcgaccaccgccgCcatcttggctcctgacgtca	13	15	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:17380511C>G	uc001bae.2	-	1	155	c.4G>C	c.(4-6)GCG>CCG	p.A2P		NM_003000	NP_002991	P21912	DHSB_HUMAN	succinate dehydrogenase complex, subunit B, iron	2					respiratory electron transport chain|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding			breast(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	ACCACCGCCGCCATCTTGGCT	0.672			Mis|N|F			paraganglioma|pheochromocytoma			Familial_Paragangliomas|Carney-Stratakis_syndrome|Cowden_syndrome				G	17380511	C	G	17380511	3	3	74	1	0	0	0	0	1	0	0	0	13965	739	26	5	870	5	SDHB	1	17380511	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	48587	17380511	231870110	20	50291											
PADI2	11240	broad.mit.edu	37	chr1	17410241	17410241	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggatccagcgatcgcctcGgtttaggtactggaagcaga	13	10	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:17410241G>A	uc001baf.2	-	9	1112	c.1030C>T	c.(1030-1032)CGA>TGA	p.R344*	PADI2_uc010ocm.1_Nonsense_Mutation_p.R228*|PADI2_uc001bag.1_Nonsense_Mutation_p.R344*	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	344					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CGATCGCCTCGGTTTAGGTAC	0.522													A	17410241	G	A	17410241	4	1	74	1	0	0	0	0	0	1	0	0	11378	1124	39	1	999	1	PADI2	1	17410241	Nonsense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	29730	17410241	231840380	21	50292											
PADI3	51702	broad.mit.edu	37	chr1	17603150	17603150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagctttgtccctgcccccGatgggaaggtaagaacttcg	12	11	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:17603150G>A	uc001bai.2	+	12	1484	c.1444G>A	c.(1444-1446)GAT>AAT	p.D482N		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	482					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCCTGCCCCCGATGGGAAGGT	0.597													A	17603150	G	A	17603150	3	1	74	1	0	0	0	0	1	0	0	0	11379	1058	37	1	1490	1	PADI3	1	17603150	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	192909	17603150	231647471	22	50293											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809629	18809629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccggatgccttccagtgCgccgtggtggacaacctcat	11	14	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:18809629C>T	uc001bax.2	+	1	2206	c.2154C>T	c.(2152-2154)TGC>TGT	p.C718C	KLHDC7A_uc009vpg.2_Silent_p.C500C	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	718						integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTCCAGTGCGCCGTGGTGG	0.657													T	18809629	C	T	18809629	2	4	74	1	0	0	0	0	0	0	0	1	8360	776	27	1		1	KLHDC7A	1	18809629	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1206479	18809629	230440992	23	50294											
KIAA0090	23065	broad.mit.edu	37	chr1	19546113	19546113	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgtagatacctcgcattcGagaaactgtctggttatagt	10	7	1	2	rs139335524		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:19546113G>A	uc001bbo.2	-	22	2795	c.2752C>T	c.(2752-2754)CGA>TGA	p.R918*	KIAA0090_uc001bbn.2_RNA|KIAA0090_uc001bbp.2_Nonsense_Mutation_p.R917*|KIAA0090_uc001bbq.2_Nonsense_Mutation_p.R917*|KIAA0090_uc001bbr.2_Nonsense_Mutation_p.R896*	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	918	DUF1620.|Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		CCTCGCATTCGAGAAACTGTC	0.498													A	19546113	G	A	19546113	4	1	74	1	0	0	0	0	0	1	0	0	8153	1066	37	1	237	1	KIAA0090	1	19546113	Nonsense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	736484	19546113	229704508	24	50295											
PLA2G5	5322	broad.mit.edu	37	chr1	20412716	20412716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaacccccaaggatggcaccGattggtgagctgatcgctat	12	11	0	2	rs143614555		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:20412716G>A	uc001bcy.2	+	3	449	c.181G>A	c.(181-183)GAT>AAT	p.D61N	PLA2G5_uc001bcw.2_RNA|PLA2G5_uc001bcx.2_Missense_Mutation_p.D92N	NM_000929	NP_000920	P39877	PA2G5_HUMAN	phospholipase A2, group V precursor	61					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			skin(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		GGATGGCACCGATTGGTGAGC	0.403													A	20412716	G	A	20412716	3	1	74	1	0	0	0	0	1	0	0	0	12007	1058	37	1	187	1	PLA2G5	1	20412716	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	866603	20412716	228837905	25	50296											
LUZP1	7798	broad.mit.edu	37	chr1	23418572	23418572	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattggtatctgggagctccAtggtattggtggaggctctg	15	7	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:23418572A>G	uc001bgk.2	-	4	2567	c.2183T>C	c.(2182-2184)ATG>ACG	p.M728T	LUZP1_uc010odv.1_Missense_Mutation_p.M728T|LUZP1_uc001bgl.2_Missense_Mutation_p.M728T|LUZP1_uc001bgm.1_Missense_Mutation_p.M728T	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	728						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TGGGAGCTCCATGGTATTGGT	0.483													G	23418572	A	G	23418572	3	3	74	1	0	0	0	0	1	0	0	0	9086	217	8	3	1055	3	LUZP1	1	23418572	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	3005856	23418572	225832049	26	50297											
HNRNPR	10236	broad.mit.edu	37	chr1	23637497	23637497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccacctctccccccaccaCgaccccgacctctaattgga	4	21	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:23637497C>T	uc001bgr.3	-	11	1511	c.1352G>A	c.(1351-1353)CGT>CAT	p.R451H	HNRNPR_uc001bgo.2_Missense_Mutation_p.R61H|HNRNPR_uc001bgp.3_Missense_Mutation_p.R454H|HNRNPR_uc009vqk.2_Missense_Mutation_p.R353H|HNRNPR_uc001bgs.3_Missense_Mutation_p.R350H|HNRNPR_uc010odw.1_Missense_Mutation_p.R413H|HNRNPR_uc010odx.1_Missense_Mutation_p.R291H|HNRNPR_uc009vql.2_Missense_Mutation_p.R312H	NM_005826	NP_005817	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	451	RNA-binding RGG-box.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CCCCCCACCACGACCCCGACC	0.448													T	23637497	C	T	23637497	3	4	74	1	0	0	0	0	1	0	0	0	7272	536	19	1	553	1	HNRNPR	1	23637497	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	218925	23637497	225613124	27	50298											
SRRM1	10250	broad.mit.edu	37	chr1	24995906	24995906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggcccgatcaccacaaCcaaacaaacggcattcgccc	9	16	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:24995906C>T	uc001bjm.2	+	14	2256	c.2032C>T	c.(2032-2034)CCA>TCA	p.P678S	SRRM1_uc010oel.1_Missense_Mutation_p.P690S|SRRM1_uc009vrh.1_Missense_Mutation_p.P651S|SRRM1_uc009vri.1_Missense_Mutation_p.P607S	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	678	Pro-rich.|Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		ATCACCACAACCAAACAAACG	0.572													T	24995906	C	T	24995906	3	4	74	1	0	0	0	0	1	0	0	0	15167	507	18	4	2086	4	SRRM1	1	24995906	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1358409	24995906	224254715	28	50299											
TMEM57	55219	broad.mit.edu	37	chr1	25785241	25785241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcacctcgaagtcatagcGccacaaatgggagcattcct	8	13	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:25785241G>A	uc001bkk.2	+	6	1214	c.1012G>A	c.(1012-1014)GCC>ACC	p.A338T	TMEM57_uc009vru.2_Intron|TMEM57_uc009vrv.2_Intron|TMEM57_uc009vrt.2_RNA	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	338						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part					0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTCATAGCGCCACAAATGG	0.413													A	25785241	G	A	25785241	3	1	74	1	0	0	0	0	1	0	0	0	16181	1087	38	1	1034	1	TMEM57	1	25785241	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	789335	25785241	223465380	29	50300											
UBXN11	91544	broad.mit.edu	37	chr1	26608854	26608859	+	In_Frame_Del	DEL	CCGGGA	CCGGGA	-													gaccgggaccgggactggggCcgggaccgggaccgggactg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:26608853_26608858GCCGGGA>G	uc001blw.3	-	15	1768_1773	c.1495_1500TCCCGGC>C	c.(1495-1500)cccggc>C	p.PG499del	UBXN11_uc001bly.3_In_Frame_Del_p.PG379del|UBXN11_uc001blz.1_In_Frame_Del_p.PG466del|UBXN11_uc001blx.3_In_Frame_Del_p.PG257del|UBXN11_uc001bma.3_In_Frame_Del_p.PG466del	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	Homo sapiens UBX domain protein 11 (UBXN11), transcript variant 2, mRNA.	499	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.			cytoplasm|cytoskeleton		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						cgggactggggccgggaccgggaccg	0.728													-	26608859	CCGGGA	-	26608854	7	5	74	1	0	1	0	1	0	0	0	0	16910	739	26	0	67	0	UBXN11	1	26608854	In_Frame_Del	DEL	CCGGGA	TCGA-BR-8361-01A-11D-2340-08	823613	26608854	222641767	30	50301											
ARID1A	8289	broad.mit.edu	37	chr1	27088682	27088682	+	Frame_Shift_Del	DEL	C	C	-													ccagatgccccagtacagttCcccccagcccggctcagcct					rs147650363		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:27088681_27088681TC>T	uc001bmv.1	+	6	2663	c.2290_2290TC>T	c.(2290-2292)tccfs	p.S764fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.S764fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.S764fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.S381fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	764					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Q766fs*51(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAGTACAGTTCCCCCCAGCC	0.522			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27088682	C	-	27088682	7	5	74	1	0	1	0	1	0	0	0	0	913	855	30	0	2317	0	ARID1A	1	27088682	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	479828	27088682	222161939	31	50302											
ARID1A	8289	broad.mit.edu	37	chr1	27106699	27106699	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcccaggacccctttTccaccctgggccccaatgcc	8	19	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:27106699T>C	uc001bmv.1	+	20	6683	c.6310T>C	c.(6310-6312)TCC>CCC	p.S2104P	ARID1A_uc001bmu.1_Missense_Mutation_p.S1887P|ARID1A_uc001bmx.1_Missense_Mutation_p.S950P|ARID1A_uc009vsm.1_Missense_Mutation_p.S432P|ARID1A_uc009vsn.1_Missense_Mutation_p.S346P	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2104					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGACCCCTTTTCCACCCTGGG	0.577			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								C	27106699	T	C	27106699	3	2	74	1	0	0	0	0	1	0	0	0	913	1783	62	3	6388	3	ARID1A	1	27106699	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	18017	27106699	222143922	32	50303											
ARID1A	8289	broad.mit.edu	37	chr1	27106804	27106804	+	Frame_Shift_Del	DEL	C	C	-													tggacctgattctggccacaCcccccttcagccgcctggag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:27106803_27106803AC>A	uc001bmv.1	+	19	6787	c.6414_6414AC>A	c.(6412-6414)acafs	p.T2138fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.T1921fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.T984fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.T466fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.T380fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2138					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTCTGGCCACACCCCCCTTCA	0.587			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27106804	C	-	27106804	7	5	74	1	0	1	0	1	0	0	0	0	913	507	18	0	6493	0	ARID1A	1	27106804	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	105	27106804	222143817	33	50304											
WASF2	10163	broad.mit.edu	37	chr1	27741399	27741399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttctcccactcttccttaCgtgtcttgattttacgtggg	7	11	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:27741399C>T	uc001bof.1	-	6	812	c.596G>A	c.(595-597)CGT>CAT	p.R199H	WASF2_uc010ofl.1_Missense_Mutation_p.R199H	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	199					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			skin(2)|ovary(1)	3		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		CTCTTCCTTACGTGTCTTGAT	0.398													T	27741399	C	T	27741399	3	4	74	1	0	0	0	0	1	0	0	0	17250	536	19	1	916	1	WASF2	1	27741399	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	634595	27741399	221509222	34	50305											
PTAFR	5724	broad.mit.edu	37	chr1	28476590	28476590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcccgggagcatttccGgctactgcgcatgctgtaga	15	11	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:28476590G>A	uc001bpl.2	-	2	1070	c.943C>T	c.(943-945)CGG>TGG	p.R315W	PTAFR_uc001bpm.3_Missense_Mutation_p.R315W|PTAFR_uc009vte.2_Missense_Mutation_p.R315W	NM_000952	NP_000943	P25105	PTAFR_HUMAN	platelet-activating factor receptor	315	Cytoplasmic (Potential).				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCATTTCCGGCTACTGCGC	0.517													A	28476590	G	A	28476590	3	1	74	1	0	0	0	0	1	0	0	0	12723	1115	39	1	89	1	PTAFR	1	28476590	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	735191	28476590	220774031	35	50306											
MATN1	4146	broad.mit.edu	37	chr1	31194315	31194315	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgaaggctttggtgatagcGaactggatggccaggccggt	16	9	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:31194315G>A	uc001brz.2	-	2	412	c.378C>T	c.(376-378)TTC>TTT	p.F126F	uc001bsb.1_RNA|MATN1_uc001bsa.1_5'Flank	NM_002379	NP_002370	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein precursor	126	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)	1		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTGATAGCGAACTGGATGG	0.627													A	31194315	G	A	31194315	2	1	74	1	0	0	0	0	0	0	0	1	9333	1049	37	1		1	MATN1	1	31194315	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2717725	31194315	218056306	36	50307											
LCK	3932	broad.mit.edu	37	chr1	32745586	32745586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggacaacgagtacacaGccagggagggtacgtgtgag	16	7	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:32745586G>A	uc001bux.2	+	11	1324	c.1186G>A	c.(1186-1188)GCC>ACC	p.A396T	LCK_uc001buy.2_Missense_Mutation_p.A396T|LCK_uc001buz.2_Missense_Mutation_p.A426T|LCK_uc010ohc.1_Missense_Mutation_p.A440T|LCK_uc001bva.2_Missense_Mutation_p.A403T	NM_005356	NP_005347	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	396	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			lung(3)|central_nervous_system(2)|ovary(1)	6		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CGAGTACACAGCCAGGGAGGG	0.582			T	TRB@	T-ALL								A	32745586	G	A	32745586	3	1	74	1	0	0	0	0	1	0	0	0	8676	971	34	2	1224	2	LCK	1	32745586	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1551271	32745586	216505035	37	50308											
RNF19B	127544	broad.mit.edu	37	chr1	33402541	33402541	+	Frame_Shift_Del	DEL	G	G	-													gcaggctgcagtatgggagcGgggggagccacactcatctg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:33402540_33402540CG>C	uc010oho.2	-	8	2066	c.2066_2066CG>G	c.(2065-2067)cgcfs	p.R689fs	RNF19B_uc001bwm.4_3'UTR|RNF19B_uc010ohp.2_Frame_Shift_Del_p.R688fs	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	Homo sapiens ring finger protein 19B (RNF19B), transcript variant 1, mRNA.	689						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGTATGGGAGCGGGGGGAGCC	0.607													-	33402541	G	-	33402541	7	5	74	1	0	1	0	1	0	0	0	0	13471	1116	39	0	137	0	RNF19B	1	33402541	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	656955	33402541	215848080	38	50309											
ZNF362	149076	broad.mit.edu	37	chr1	33741738	33741738	+	Frame_Shift_Del	DEL	C	C	-													ttaacaacccctacttctggCcccctcctcccaccatgccc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:33741737_33741737GC>G	uc001bxc.1	+	2	245	c.75_75GC>G	c.(73-75)tggfs	p.W25fs		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	Homo sapiens zinc finger protein 362 (ZNF362), mRNA.	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTACTTCTGGCCCCCTCCTC	0.657													-	33741738	C	-	33741738	7	5	74	1	0	1	0	1	0	0	0	0	17865	739	26	0	82	0	ZNF362	1	33741738	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	339197	33741738	215508883	39	50310											
DLGAP3	58512	broad.mit.edu	37	chr1	35365852	35365852	+	Frame_Shift_Del	DEL	C	C	-													ccttgccaccggtggggtaaCccccccagtcatcttgcggc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:35365851_35365851AC>A	uc001byc.3	-	1	1131	c.1131_1131GT>T	c.(1129-1131)ggtfs	p.G377fs		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	377					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CGGTGGGGTAACCCCCCCAGT	0.607													-	35365852	C	-	35365852	7	5	74	1	0	1	0	1	0	0	0	0	4561	507	18	0	1845	0	DLGAP3	1	35365852	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	1624114	35365852	213884769	40	50311											
SFPQ	6421	broad.mit.edu	37	chr1	35653617	35653617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaactttcctctctttggCgcctcatttgttcttccatc	5	13	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:35653617C>T	uc001bys.2	-	7	1865	c.1772G>A	c.(1771-1773)CGC>CAC	p.R591H	SFPQ_uc001byr.2_RNA	NM_005066	NP_005057	P23246	SFPQ_HUMAN	splicing factor proline/glutamine rich	591					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|protein binding|RNA binding		SFPQ/TFE3(6)	kidney(4)|soft_tissue(2)|ovary(1)|skin(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CTCTCTTTGGCGCCTCATTTG	0.458			T	TFE3	papillary renal cell								T	35653617	C	T	35653617	3	4	74	1	0	0	0	0	1	0	0	0	14160	768	27	1	367	1	SFPQ	1	35653617	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	287765	35653617	213597004	41	50312											
KIAA0319L	79932	broad.mit.edu	37	chr1	35906742	35906742	+	Splice_Site	DEL	A	A	-													ttgggttttcctttttgcctAaaaaacacaacccccacccc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:35906741_35906741TA>T	uc001byx.3	-	20	3129	c.2871_splice	c.e20-1	p.R957_splice	KIAA0319L_uc001byw.3_Splice_Site_p.R399_splice|KIAA0319L_uc010ohv.1_Intron	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	957						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCTTTTTGCCTAAAAAACACA	0.542													-	35906742	A	-	35906742	8	5	74	1	0	1	0	1	0	0	1	0	8169	377	13	0		0	KIAA0319L	1	35906742	Splice_Site	DEL	A	TCGA-BR-8361-01A-11D-2340-08	253125	35906742	213343879	42	50313											
CLSPN	63967	broad.mit.edu	37	chr1	36229901	36229901	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttttttagctgtctaAttttttccatttttctctcc	2	11	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:36229901A>T	uc001bzi.2	-	3	628	c.548T>A	c.(547-549)ATT>AAT	p.I183N	CLSPN_uc009vux.2_Missense_Mutation_p.I183N	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	claspin	183	Potential.				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TAGCTGTCTAATTTTTTCCAT	0.313													T	36229901	A	T	36229901	3	4	74	1	0	0	0	0	1	0	0	0	3560	101	4	5	3563	5	CLSPN	1	36229901	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	323159	36229901	213020720	43	50314											
GRIK3	2899	broad.mit.edu	37	chr1	37337827	37337827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgccatagtgtggctgcagtCgaagataatgcggaattccc	12	10	0	1	rs143358361		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:37337827C>T	uc001caz.2	-	4	829	c.694G>A	c.(694-696)GAC>AAC	p.D232N	GRIK3_uc001cba.1_Missense_Mutation_p.D232N	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	232	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.D232N(1)		ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGGCTGCAGTCGAAGATAATG	0.612													T	37337827	C	T	37337827	3	4	74	1	0	0	0	0	1	0	0	0	6775	884	31	1	2117	1	GRIK3	1	37337827	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1107926	37337827	211912794	44	50315											
MTF1	4520	broad.mit.edu	37	chr1	38281160	38281160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgcagagtcccggcatGcacactgacactgacatgcc	9	15	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:38281160G>A	uc001cce.1	-	11	2051	c.1910C>T	c.(1909-1911)GCA>GTA	p.A637V		NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	637						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTCCCGGCATGCACACTGACA	0.607													A	38281160	G	A	38281160	3	1	74	1	0	0	0	0	1	0	0	0	9922	1319	46	2	355	2	MTF1	1	38281160	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	943333	38281160	210969461	45	50316											
MACF1	23499	broad.mit.edu	37	chr1	39934365	39934365	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgttggtggaggatggatgGccttggatgaatttttagtg	17	3	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:39934365G>T	uc010oiu.1	+	61	17310	c.17179G>T	c.(17179-17181)GCC>TCC	p.A5727S	MACF1_uc010ois.1_Missense_Mutation_p.A5219S|MACF1_uc001cde.1_Missense_Mutation_p.A96S|MACF1_uc001cdf.1_Missense_Mutation_p.A102S|MACF1_uc001cdg.2_Missense_Mutation_p.A10S|MACF1_uc001cdh.2_Missense_Mutation_p.A10S	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	7177	C-terminal tail (By similarity).|GAR.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGATGGATGGCCTTGGATGA	0.468													T	39934365	G	T	39934365	3	4	74	1	0	0	0	0	1	0	0	0	9144	1203	42	5	22190	5	MACF1	1	39934365	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1653205	39934365	209316256	46	50317											
SLFNL1	200172	broad.mit.edu	37	chr1	41486058	41486058	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacctgcaccagtgcatagGccttccgcggccgcctcacc	9	19	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:41486058G>T	uc001cgm.1	-	2	495	c.275C>A	c.(274-276)GCC>GAC	p.A92D	SLFNL1_uc009vwf.1_Missense_Mutation_p.A92D|SLFNL1_uc001cgn.1_Missense_Mutation_p.A92D|SLFNL1_uc009vwg.1_Missense_Mutation_p.A92D	NM_144990	NP_659427	Q499Z3	SLNL1_HUMAN	schlafen-like 1	92							ATP binding			skin(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CAGTGCATAGGCCTTCCGCGG	0.672													T	41486058	G	T	41486058	3	4	74	1	0	0	0	0	1	0	0	0	14738	1203	42	5	964	5	SLFNL1	1	41486058	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1551693	41486058	207764563	47	50318											
HIVEP3	59269	broad.mit.edu	37	chr1	42048868	42048868	+	Frame_Shift_Del	DEL	G	G	-													ggcttctcaggagaggcacaGggggggcggtactgggcggg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:42048867_42048867AG>A	uc001cgz.4	-	3	2815	c.1602_1602CT>T	c.(1600-1602)cctfs	p.P534fs	HIVEP3_uc001cha.4_Frame_Shift_Del_p.P534fs|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	534	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGAGAGGCACAGGGGGGGCGG	0.597													-	42048868	G	-	42048868	7	5	74	1	0	1	0	1	0	0	0	0	7188	1000	35	0	5643	0	HIVEP3	1	42048868	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	562810	42048868	207201753	48	50319											
FOXJ3	22887	broad.mit.edu	37	chr1	42645437	42645437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatctggaggcagggaacGccgcatctggaaggcttggg	17	9	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:42645437G>A	uc001che.2	-	15	2125	c.1813C>T	c.(1813-1815)CGT>TGT	p.R605C	FOXJ3_uc001chf.2_Missense_Mutation_p.R605C|FOXJ3_uc001chg.2_Missense_Mutation_p.R605C	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	605					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)	2	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGCAGGGAACGCCGCATCTGG	0.507													A	42645437	G	A	42645437	3	1	74	1	0	0	0	0	1	0	0	0	6013	1087	38	1	59	1	FOXJ3	1	42645437	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	596569	42645437	206605184	49	50320											
CCDC30	728621	broad.mit.edu	37	chr1	43108274	43108274	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggacgatatcttccatccAgagcaggtaggtgccatcct	10	11	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:43108274A>C	uc009vwk.1	+	12	1879	c.1769A>C	c.(1768-1770)CAG>CCG	p.Q590P	CCDC30_uc001chm.2_Missense_Mutation_p.Q288P|CCDC30_uc001chn.2_Missense_Mutation_p.Q379P	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	590	Potential.										0						TCTTCCATCCAGAGCAGGTAG	0.448													C	43108274	A	C	43108274	3	2	74	1	0	0	0	0	1	0	0	0	2805	188	7	5	1811	5	CCDC30	1	43108274	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	462837	43108274	206142347	50	50321											
SLC2A1	6513	broad.mit.edu	37	chr1	43392779	43392779	+	Frame_Shift_Del	DEL	C	C	-													tcttgtcactttggctggctCccccctgccggaagccggaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:43392779delC	uc001cik.2	-	10	1937	c.1412delG	c.(1411-1413)GGAfs	p.G471fs		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	471	Cytoplasmic (Potential).				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TTGGCTGGCTCCCCCCTGCCG	0.587													-	43392779	C	-	43392779	7	5	74	1	0	1	0	1	0	0	0	0	14538	855	30	0	70	0	SLC2A1	1	43392779	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	284505	43392779	205857842	51	50322											
RNF220	55182	broad.mit.edu	37	chr1	45115379	45115379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtttgaggctctgaaggctCgggtcagagaacttgaacgg	15	8	2	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:45115379C>T	uc001clv.1	+	13	1852	c.1492C>T	c.(1492-1494)CGG>TGG	p.R498W	RNF220_uc001clw.1_Missense_Mutation_p.R498W|RNF220_uc010oky.1_Missense_Mutation_p.R285W|RNF220_uc010okz.1_Missense_Mutation_p.R240W|RNF220_uc001clx.1_Missense_Mutation_p.R214W|RNF220_uc001cly.1_Missense_Mutation_p.R178W|RNF220_uc001clz.1_Missense_Mutation_p.R177W|RNF220_uc001cma.1_Missense_Mutation_p.R177W|TMEM53_uc001cmb.1_Intron	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	498	Potential.				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TCTGAAGGCTCGGGTCAGAGA	0.463													T	45115379	C	T	45115379	3	4	74	1	0	0	0	0	1	0	0	0	13483	875	31	1	1538	1	RNF220	1	45115379	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1722600	45115379	204135242	52	50323											
EIF2B3	8891	broad.mit.edu	37	chr1	45407191	45407191	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccttacctgctttttttttCcccttttgaccgggaacagg	7	12	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:45407191C>T	uc001cmt.1	-	4	568	c.441G>A	c.(439-441)GGG>GGA	p.G147G	EIF2B3_uc001cmu.1_Silent_p.G147G|EIF2B3_uc001cmv.1_Silent_p.G147G|EIF2B3_uc001cmw.2_Silent_p.G147G	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B,	147					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CTTTTTTTTTCCCCTTTTGAC	0.338													T	45407191	C	T	45407191	2	4	74	1	0	0	0	0	0	0	0	1	5002	842	30	4		4	EIF2B3	1	45407191	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	291812	45407191	203843430	53	50324											
LRRC41	10489	broad.mit.edu	37	chr1	46751470	46751470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaaggtgaccgcttggtGccaggagcctcatgggaggt	17	9	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:46751470G>A	uc001cpn.2	-	4	1103	c.1059C>T	c.(1057-1059)GGC>GGT	p.G353G	LRRC41_uc010omb.1_Silent_p.G353G|LRRC41_uc001cpo.1_Silent_p.G353G	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	353										ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					ACCGCTTGGTGCCAGGAGCCT	0.617													A	46751470	G	A	46751470	2	1	74	1	0	0	0	0	0	0	0	1	8999	1306	46	2		2	LRRC41	1	46751470	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1344279	46751470	202499151	54	50325											
MOBKL2C	148932	broad.mit.edu	37	chr1	47078721	47078721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcgtagcggggcccgccGgccatgaccgggcagctggt	16	14	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:47078721G>A	uc001cqf.3	-	2	504	c.273C>T	c.(271-273)GCC>GCT	p.A91A	MKNK1_uc010omf.1_Intron|MOBKL2C_uc001cqe.3_Silent_p.A143A	NM_201403	NP_958805	Q70IA8	MOL2C_HUMAN	MOB1, Mps One Binder kinase activator-like 2C	91							metal ion binding			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					GGGGCCCGCCGGCCATGACCG	0.652													A	47078721	G	A	47078721	2	1	74	1	0	0	0	0	0	0	0	1	9686	1103	39	1		1	MOBKL2C	1	47078721	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	327251	47078721	202171900	55	50326											
CYP4A11	1579	broad.mit.edu	37	chr1	47407043	47407043	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagaatgagcagggaggcCgcttggaggattccagagac	16	8	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:47407043C>T	uc001cqp.3	-	1	114	c.63G>A	c.(61-63)GCG>GCA	p.A21A	CYP4A11_uc001cqq.2_Silent_p.A21A|CYP4A11_uc010omm.1_RNA	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A,	21					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			ovary(2)|skin(2)	4					NADH(DB00157)	GCAGGGAGGCCGCTTGGAGGA	0.597													T	47407043	C	T	47407043	2	4	74	1	0	0	0	0	0	0	0	1	4183	639	23	1		1	CYP4A11	1	47407043	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	328322	47407043	201843578	56	50327											
OSBPL9	114883	broad.mit.edu	37	chr1	52253026	52253026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttacctctttgttttagcCtttggaaggatgtcactttc	7	9	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:52253026C>T	uc001cst.2	+	23	2021	c.2002C>T	c.(2002-2004)CTT>TTT	p.L668F	OSBPL9_uc001css.2_Missense_Mutation_p.L673F|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Missense_Mutation_p.L669F|OSBPL9_uc001csu.2_Missense_Mutation_p.L678F|OSBPL9_uc001csv.2_Missense_Mutation_p.L503F|OSBPL9_uc001csw.2_Missense_Mutation_p.L655F|OSBPL9_uc001csy.2_Missense_Mutation_p.L490F|OSBPL9_uc001csz.2_Missense_Mutation_p.L490F|OSBPL9_uc001cta.2_Missense_Mutation_p.L558F|OSBPL9_uc001ctb.2_Missense_Mutation_p.L453F	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9 isoform e	668					lipid transport		lipid binding			central_nervous_system(1)	1						TTGTTTTAGCCTTTGGAAGGA	0.413													T	52253026	C	T	52253026	3	4	74	1	0	0	0	0	1	0	0	0	11284	695	24	4	2196	4	OSBPL9	1	52253026	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	4845983	52253026	196997595	57	50328											
NRD1	4898	broad.mit.edu	37	chr1	52272466	52272466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggagggcaacattttacCtttggggattttgaatttgt	11	5	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:52272466C>T	uc001ctc.3	-	20	2636	c.2314G>A	c.(2314-2316)GCA>ACA	p.A772T	NRD1_uc009vzb.2_Missense_Mutation_p.A467T|NRD1_uc001ctd.3_Missense_Mutation_p.A704T|NRD1_uc001cte.2_Missense_Mutation_p.A640T|NRD1_uc001ctf.2_Missense_Mutation_p.A704T|NRD1_uc010ong.1_RNA	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	703					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						AACATTTTACCTTTGGGGATT	0.234													T	52272466	C	T	52272466	3	4	74	1	0	0	0	0	1	0	0	0	10645	695	24	4	1401	4	NRD1	1	52272466	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	19440	52272466	196978155	58	50329											
DIO1	1733	broad.mit.edu	37	chr1	54360030	54360030	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccatgggcgagaagacgggTatgaccaggaacccccattt	13	11	0	3	rs147857941		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:54360030T>C	uc010onx.1	+	1	170	c.147T>C	c.(145-147)GGT>GGC	p.G49G	DIO1_uc010onw.1_Splice_Site_p.G49_splice|DIO1_uc009vzl.2_Silent_p.G49G|DIO1_uc001cwb.2_Silent_p.G49G|DIO1_uc010ony.1_Silent_p.G49G|DIO1_uc001cwd.2_Splice_Site|DIO1_uc001cwe.2_Splice_Site|DIO1_uc001cwf.2_RNA|DIO1_uc001cwg.2_RNA	NM_000792	NP_000783	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I isoform a	49					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity				0						AGAAGACGGGTATGACCAGGA	0.522													C	54360030	T	C	54360030	2	2	74	1	0	0	0	0	0	0	0	1	4524	1652	57	3		3	DIO1	1	54360030	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	2087564	54360030	194890591	59	50330											
C1orf87	127795	broad.mit.edu	37	chr1	60456436	60456436	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggtcgattttctgagggCtcagggacaggttgtaaatg	14	7	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:60456436C>A	uc001czs.1	-	12	1642	c.1550G>T	c.(1549-1551)AGC>ATC	p.S517I	C1orf87_uc001czr.1_Missense_Mutation_p.S109I	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	hypothetical protein LOC127795	517							calcium ion binding			ovary(1)|breast(1)	2						TTTCTGAGGGCTCAGGGACAG	0.493													A	60456436	C	A	60456436	3	1	74	1	0	0	0	0	1	0	0	0	2064	797	28	5	94	5	C1orf87	1	60456436	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	6096406	60456436	188794185	60	50331											
LEPROT	54741	broad.mit.edu	37	chr1	65895579	65895579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattcgtcctgattttccacGccatctcccccatcccccat	3	19	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:65895579G>A	uc001dcf.2	+	3	216	c.127G>A	c.(127-129)GCC>ACC	p.A43T	LEPR_uc001dcg.2_Intron|LEPR_uc001dch.2_Intron|LEPR_uc001dci.2_Intron|LEPR_uc009waq.2_Intron|LEPROT_uc009wap.2_Missense_Mutation_p.A52T	NM_017526	NP_059996	O15243	OBRG_HUMAN	leptin receptor gene-related protein	43	Helical; (Potential).					endosome membrane|Golgi membrane|integral to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GATTTTCCACGCCATCTCCCC	0.443													A	65895579	G	A	65895579	3	1	74	1	0	0	0	0	1	0	0	0	8732	1087	38	1	137	1	LEPROT	1	65895579	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	5439143	65895579	183355042	61	50332											
C1orf141	400757	broad.mit.edu	37	chr1	67561960	67561960	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atttctatcaccttctaagaGaccaacagaatccaatggtt	5	10	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:67561960G>A	uc001ddl.1	-	5	502	c.391C>T	c.(391-393)CTC>TTC	p.L131F	C1orf141_uc001ddm.1_Missense_Mutation_p.L131F|C1orf141_uc001ddn.1_RNA	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	hypothetical protein LOC400757	131										ovary(1)	1						CCTTCTAAGAGACCAACAGAA	0.264													A	67561960	G	A	67561960	3	1	74	1	0	0	0	0	1	0	0	0	2001	942	33	4	823	4	C1orf141	1	67561960	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1666381	67561960	181688661	62	50333											
C1orf173	127254	broad.mit.edu	37	chr1	75072545	75072545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttttctttcctagatttcGgcaaagacggttttttgtca	7	8	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:75072545G>A	uc001dgg.2	-	10	1448	c.1229C>T	c.(1228-1230)CCG>CTG	p.P410L	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.P204L	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	410										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						CCTAGATTTCGGCAAAGACGG	0.408													A	75072545	G	A	75072545	3	1	74	1	0	0	0	0	1	0	0	0	2014	1116	39	1	3383	1	C1orf173	1	75072545	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	7510585	75072545	174178076	63	50334											
ASB17	127247	broad.mit.edu	37	chr1	76397757	76397757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggtatcctgatttttccaCaaatgcaatgtaatctgtga	7	8	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:76397757C>T	uc001dhe.1	-	1	360	c.220G>A	c.(220-222)GTG>ATG	p.V74M	ASB17_uc001dhf.1_RNA	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box-containing 17	74					intracellular signal transduction					ovary(1)	1						GATTTTTCCACAAATGCAATG	0.378													T	76397757	C	T	76397757	3	4	74	1	0	0	0	0	1	0	0	0	1021	478	17	4	679	4	ASB17	1	76397757	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1325212	76397757	172852864	64	50335											
WDR63	126820	broad.mit.edu	37	chr1	85547084	85547085	+	Frame_Shift_Ins	INS	-	-	A													atctgatttccacccagtcaINSaaaaaattgtccaggtaagc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:85547083_85547084C>CA	uc001dkt.3	+	3	461_462	c.270_271C>CA	c.(268-273)gtcaaafs	p.V90fs	WDR63_uc009wcl.3_Frame_Shift_Ins_p.V90fs	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	90										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TCCACCCAGTCAAAAAAATTGT	0.381													A	85547085	-	A	85547084	7	5	74	1	0	1	1	0	0	0	0	0	17311	131	5	0	281	0	WDR63	1	85547084	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	9149327	85547084	163703537	65	50336											
SYDE2	84144	broad.mit.edu	37	chr1	85666150	85666150	+	Frame_Shift_Del	DEL	C	C	-													gcggcctgaggaaggaggggCcttcctggcggtctcctttg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:85666149_85666149GC>G	uc009wcm.3	-	0	580	c.531_531GC>C	c.(529-531)ggcfs	p.G177fs	SYDE2_uc001dku.4_Frame_Shift_Del_p.G177fs	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	177					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GGAAGGAGGGGCCTTCCTGGC	0.627													-	85666150	C	-	85666150	7	5	74	1	0	1	0	1	0	0	0	0	15433	739	26	0	3082	0	SYDE2	1	85666150	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	119066	85666150	163584471	66	50337											
CLCA4	22802	broad.mit.edu	37	chr1	87036905	87036905	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctttgggaagagctgctgAtgaagcagtaatagagatga	14	4	0	5	rs2839932		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:87036905A>C	uc009wcs.2	+	8	1372	c.1328A>C	c.(1327-1329)GAT>GCT	p.D443A	CLCA4_uc009wct.2_Missense_Mutation_p.D206A|CLCA4_uc009wcu.2_Missense_Mutation_p.D263A	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	443	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AGAGCTGCTGATGAAGCAGTA	0.393													C	87036905	A	C	87036905	3	2	74	1	0	0	0	0	1	0	0	0	3459	333	12	5	1358	5	CLCA4	1	87036905	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1370755	87036905	162213716	67	50338											
GTF2B	2959	broad.mit.edu	37	chr1	89323037	89323037	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctgtacttgtttaggaagAcaaaggttggaacagaacct	10	6	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:89323037A>G	uc001dmo.3	-	6	788	c.669T>C	c.(667-669)TGT>TGC	p.C223C		NM_001514	NP_001505	Q00403	TF2B_HUMAN	general transcription factor IIB	223	2.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		GTTTAGGAAGACAAAGGTTGG	0.468													G	89323037	A	G	89323037	2	3	74	1	0	0	0	0	0	0	0	1	6855	273	10	3		3	GTF2B	1	89323037	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	2286132	89323037	159927584	68	50339											
LRRC8D	55144	broad.mit.edu	37	chr1	90400707	90400708	+	Frame_Shift_Ins	INS	-	-	A													tttaaaattatggcataacaINSaaattgttactattcctccc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:90400706_90400707C>CA	uc021opq.1	+	0	2079_2080	c.2079_2080C>CA	c.(2077-2082)aacaaafs	p.N693fs	LRRC8D_uc001dnm.3_Frame_Shift_Ins_p.N693fs|LRRC8D_uc001dnn.3_Frame_Shift_Ins_p.N693fs	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	693						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TATGGCATAACAAAATTGTTAC	0.351													A	90400708	-	A	90400707	7	5	74	1	0	1	1	0	0	0	0	0	9024	131	5	0	2082	0	LRRC8D	1	90400707	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1077670	90400707	158849914	69	50340											
ZNF644	84146	broad.mit.edu	37	chr1	91403294	91403296	+	In_Frame_Del	DEL	CTT	CTT	-													ttcatttaagaaattcagccCttcttcttctgatgcagaca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:91403293_91403295CCTT>C	uc001dnw.3	-	3	3718_3720	c.3435_3437AAGG>G	c.(3433-3438)gaaggg>gaGg	p.G1146del	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	1146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GAAATTCAGCCCTTCTTCTTCTG	0.365													-	91403296	CTT	-	91403294	7	5	74	1	0	1	0	1	0	0	0	0	18057	681	24	0	559	0	ZNF644	1	91403294	In_Frame_Del	DEL	CTT	TCGA-BR-8361-01A-11D-2340-08	1002587	91403294	157847327	70	50341											
TGFBR3	7049	broad.mit.edu	37	chr1	92185008	92185008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagggtgacgtccatccccGagtagccactggcctaaaac	10	14	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:92185008G>A	uc001doh.2	-	10	1893	c.1427C>T	c.(1426-1428)TCG>TTG	p.S476L	TGFBR3_uc009wde.2_Missense_Mutation_p.S253L|TGFBR3_uc010osy.1_Missense_Mutation_p.S434L|TGFBR3_uc001doi.2_Missense_Mutation_p.S475L|TGFBR3_uc001doj.2_Missense_Mutation_p.S475L	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	476	ZP.|Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GTCCATCCCCGAGTAGCCACT	0.512													A	92185008	G	A	92185008	3	1	74	1	0	0	0	0	1	0	0	0	15820	1059	37	1	1160	1	TGFBR3	1	92185008	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	781714	92185008	157065613	71	50342											
SNX7	51375	broad.mit.edu	37	chr1	99156668	99156668	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgactccagtgaatttgaagTtaggagacgatatcaagatt	10	5	1	5			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:99156668T>A	uc010ouc.1	+	3	453	c.401T>A	c.(400-402)GTT>GAT	p.V134D	SNX7_uc001dsa.2_Missense_Mutation_p.V70D|SNX7_uc010oud.1_Missense_Mutation_p.V134D	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN	sorting nexin 7 isoform a	70	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GAATTTGAAGTTAGGAGACGA	0.363													A	99156668	T	A	99156668	3	1	74	1	0	0	0	0	1	0	0	0	14907	1725	60	5	411	5	SNX7	1	99156668	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	6971660	99156668	150093953	72	50343											
VCAM1	7412	broad.mit.edu	37	chr1	101194858	101194858	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccctgagccctgtgagttTtgagaacgaacactcttatc	9	11	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:101194858T>G	uc001dti.2	+	5	1244	c.1124T>G	c.(1123-1125)TTT>TGT	p.F375C	VCAM1_uc001dtj.2_Intron|VCAM1_uc010ouj.1_Missense_Mutation_p.F313C	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	375	Ig-like C2-type 4.|Extracellular (Potential).				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CCTGTGAGTTTTGAGAACGAA	0.502													G	101194858	T	G	101194858	3	3	74	1	0	0	0	0	1	0	0	0	17134	1841	64	5	1142	5	VCAM1	1	101194858	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	2038190	101194858	148055763	73	50344											
COL11A1	1301	broad.mit.edu	37	chr1	103352527	103352527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcaagaatattatcatctGcatctgcttgcatgccttca	5	10	5	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:103352527G>A	uc001dul.2	-	63	5012	c.4694C>T	c.(4693-4695)GCA>GTA	p.A1565V	COL11A1_uc001duk.2_Missense_Mutation_p.A761V|COL11A1_uc001dum.2_Missense_Mutation_p.A1577V|COL11A1_uc001dun.2_Missense_Mutation_p.A1526V|COL11A1_uc009weh.2_Missense_Mutation_p.A1449V	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1565					collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATTATCATCTGCATCTGCTTG	0.393													A	103352527	G	A	103352527	3	1	74	1	0	0	0	0	1	0	0	0	3667	1319	46	2	746	2	COL11A1	1	103352527	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2157669	103352527	145898094	74	50345											
COL11A1	1301	broad.mit.edu	37	chr1	103364326	103364326	+	Frame_Shift_Del	DEL	C	C	-													aggaccttctgcacctgcttCcccctgttagaaagtaaaat							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:103364325_103364325TC>T	uc001dum.3	-	55	4499	c.4181_4181GA>A	c.(4180-4182)gaafs	p.E1394fs	COL11A1_uc001duk.3_Frame_Shift_Del_p.E578fs|COL11A1_uc001dul.3_Frame_Shift_Del_p.E1382fs|COL11A1_uc001dun.3_Frame_Shift_Del_p.E1343fs|COL11A1_uc009weh.3_Frame_Shift_Del_p.E1266fs	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1382	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGCACCTGCTTCCCCCTGTTA	0.458													-	103364326	C	-	103364326	7	5	74	1	0	1	0	1	0	0	0	0	3667	864	30	0	1324	0	COL11A1	1	103364326	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	11799	103364326	145886295	75	50346											
NTNG1	22854	broad.mit.edu	37	chr1	107950324	107950325	+	Frame_Shift_Ins	INS	-	-	T													tatccccagtatttccagtaINSttggtagtaagtaaaaacaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:107950324_107950325insT	uc001dvh.3	+	5	1799_1800	c.1081_1082insT	c.(1081-1083)ATTfs	p.I361fs	NTNG1_uc001dvf.3_Frame_Shift_Ins_p.I361fs|NTNG1_uc010out.1_Frame_Shift_Ins_p.I361fs|NTNG1_uc001dvc.3_Frame_Shift_Ins_p.I361fs|NTNG1_uc001dvi.2_5'UTR|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_RNA|NTNG1_uc009wem.2_Intron|NTNG1_uc001dvd.1_Frame_Shift_Ins_p.I361fs	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	361					axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TATTTCCAGTATTGGTAGTAAG	0.317													T	107950325	-	T	107950324	7	5	74	1	0	1	1	0	0	0	0	0	10704	449	16	0	1095	0	NTNG1	1	107950324	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	4585998	107950324	141300297	76	50347	199	2									
NTNG1	22854	broad.mit.edu	37	chr1	107950325	107950326	+	Frame_Shift_Ins	INS	-	-	T													atccccagtatttccagtatINStggtagtaagtaaaaacaaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:107950324_107950325A>AT	uc001dvh.4	+	4	1799_1800	c.1081_1082A>AT	c.(1081-1083)attfs	p.I361fs	NTNG1_uc001dvc.4_Frame_Shift_Ins_p.I361fs|NTNG1_uc010out.2_Frame_Shift_Ins_p.I361fs|NTNG1_uc001dvf.4_Frame_Shift_Ins_p.I361fs|NTNG1_uc001dvi.3_5'UTR|NTNG1_uc001dve.3_Non-coding_Transcript|NTNG1_uc009wek.3_Non-coding_Transcript|NTNG1_uc001dvg.3_Non-coding_Transcript|NTNG1_uc009wem.3_Intron|NTNG1_uc001dvd.1_Frame_Shift_Ins_p.I361fs	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	361					axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TATTTCCAGTATTGGTAGTAAG	0.317													T	107950326	-	T	107950325	7	5	74	1	0	1	1	0	0	0	0	0	10704	1493	52	0	1096	0	NTNG1	1	107950325	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1	107950325	141300296	77	50348	199	2									
PRPF38B	55119	broad.mit.edu	37	chr1	109238368	109238368	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggaagcaggaaaacagcGggccagacagggatgtgcgg	17	7	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:109238368G>A	uc001dvv.3	+	2	603	c.321G>A	c.(319-321)GCG>GCA	p.A107A	PRPF38B_uc001dvw.3_5'UTR|PRPF38B_uc010ouz.1_5'UTR	NM_018061	NP_060531	Q5VTL8	PR38B_HUMAN	PRP38 pre-mRNA processing factor 38 (yeast)	107					mRNA processing|RNA splicing	spliceosomal complex					0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GGAAAACAGCGGGCCAGACAG	0.403													A	109238368	G	A	109238368	2	1	74	1	0	0	0	0	0	0	0	1	12568	1103	39	1		1	PRPF38B	1	109238368	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1288043	109238368	140012253	78	50349											
CELSR2	1952	broad.mit.edu	37	chr1	109805496	109805496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccgagagcttcccagtccGaatgcggcagttcgtgggct	14	13	0	1	rs148197539		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:109805496G>A	uc001dxa.3	+	7	4674	c.4613G>A	c.(4612-4614)CGA>CAA	p.R1538Q		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1538	Extracellular (Potential).|Laminin G-like 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TTCCCAGTCCGAATGCGGCAG	0.627													A	109805496	G	A	109805496	3	1	74	1	0	0	0	0	1	0	0	0	3222	1058	37	1	4639	1	CELSR2	1	109805496	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	567128	109805496	139445125	79	50350											
FAM40A	85369	broad.mit.edu	37	chr1	110587676	110587676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgcccaggccaatccaCgaaagcatcaagactctgaa	10	13	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:110587676C>T	uc001dza.1	+	12	1411	c.1392C>T	c.(1390-1392)CAC>CAT	p.H464H	FAM40A_uc001dyz.1_Silent_p.H369H|FAM40A_uc009wfp.1_Silent_p.H288H	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	hypothetical protein LOC85369	464						nucleus	protein binding			ovary(3)|large_intestine(1)	4		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		GGCCAATCCACGAAAGCATCA	0.517													T	110587676	C	T	110587676	2	4	74	1	0	0	0	0	0	0	0	1	5560	535	19	1		1	FAM40A	1	110587676	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	782180	110587676	138662945	80	50351											
KCNA3	3738	broad.mit.edu	37	chr1	111216807	111216807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgcggcggggcaagggccGctcctcctcccgcaggaagc	16	16	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:111216807G>A	uc001dzv.1	-	1	849	c.625C>T	c.(625-627)CGG>TGG	p.R209W		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	209						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCAAGGGCCGCTCCTCCTCC	0.682													A	111216807	G	A	111216807	3	1	74	1	0	0	0	0	1	0	0	0	8004	1086	38	1	1106	1	KCNA3	1	111216807	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	629131	111216807	138033814	81	50352											
KCNA3	3738	broad.mit.edu	37	chr1	111217049	111217049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttggggtcgcccagcagcGtctcggggaactggcaaagg	17	11	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:111217049G>A	uc001dzv.1	-	1	607	c.383C>T	c.(382-384)ACG>ATG	p.T128M		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	128						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCAGCAGCGTCTCGGGGAA	0.662													A	111217049	G	A	111217049	3	1	74	1	0	0	0	0	1	0	0	0	8004	1145	40	1	1348	1	KCNA3	1	111217049	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	242	111217049	138033572	82	50353											
DRAM2	128338	broad.mit.edu	37	chr1	111663273	111663273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatgagcccataccaaaggTaagcacagctccacttacat	6	12	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:111663273T>C	uc001ead.3	-	6	639	c.382A>G	c.(382-384)ACC>GCC	p.T128A	DRAM2_uc001eae.3_Missense_Mutation_p.T128A|DRAM2_uc009wfy.2_RNA|DRAM2_uc001eaf.3_5'UTR	NM_178454	NP_848549	Q6UX65	DRAM2_HUMAN	transmembrane protein 77	128	Helical; (Potential).				apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane					0						ATACCAAAGGTAAGCACAGCT	0.403													C	111663273	T	C	111663273	3	2	74	1	0	0	0	0	1	0	0	0	4754	1638	57	3	434	3	DRAM2	1	111663273	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	446224	111663273	137587348	83	50354											
HIPK1	204851	broad.mit.edu	37	chr1	114483980	114483980	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacatcatgctggttgaTccagttcgccagccctaccg	9	13	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:114483980T>C	uc001eem.2	+	2	1136	c.975T>C	c.(973-975)GAT>GAC	p.D325D	HIPK1_uc001eel.2_Silent_p.D325D|HIPK1_uc001een.2_Silent_p.D325D	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	325	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCTGGTTGATCCAGTTCGCC	0.493													C	114483980	T	C	114483980	2	2	74	1	0	0	0	0	0	0	0	1	7116	1432	50	3		3	HIPK1	1	114483980	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	2820707	114483980	134766641	84	50355											
PTGFRN	5738	broad.mit.edu	37	chr1	117492145	117492145	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaacaggagctggcacaaAgtggcagaggccgtgtcttc	13	11	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:117492145A>C	uc001egv.1	+	4	1301	c.1164A>C	c.(1162-1164)AAA>AAC	p.K388N		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	388	Ig-like C2-type 3.|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			liver(1)	1	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GCTGGCACAAAGTGGCAGAGG	0.542													C	117492145	A	C	117492145	3	2	74	1	0	0	0	0	1	0	0	0	12750	69	3	5	1178	5	PTGFRN	1	117492145	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	3008165	117492145	131758476	85	50356											
NOTCH2	4853	broad.mit.edu	37	chr1	120480571	120480571	+	Frame_Shift_Del	DEL	T	T	-													cataggcactgggactctgcTtttttctgaacgcaagtacc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:120480570_120480570CT>C	uc001eik.3	-	19	3544	c.3247_3247AG>G	c.(3247-3249)gcafs	p.A1083fs	NOTCH2_uc001eil.3_Frame_Shift_Del_p.A1083fs	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1083	EGF-like 28.				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGGACTCTGCTTTTTTCTGA	0.488			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				-	120480571	T	-	120480571	7	5	74	1	0	1	0	1	0	0	0	0	10548	1606	56	0	4229	0	NOTCH2	1	120480571	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	2988426	120480571	128770050	86	50357											
PDE4DIP	9659	broad.mit.edu	37	chr1	144903085	144903085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagttccccacctccaatgGcggccagggtctccagcctg	10	18	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:144903085G>A	uc001elw.3	-	21	3098	c.2807C>T	c.(2806-2808)GCC>GTC	p.A936V	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.A1002V|PDE4DIP_uc001emc.1_Missense_Mutation_p.A936V|PDE4DIP_uc001emd.1_Missense_Mutation_p.A936V|PDE4DIP_uc001emb.1_Missense_Mutation_p.A1099V|PDE4DIP_uc001eme.1_Intron|PDE4DIP_uc001emf.1_Missense_Mutation_p.A721V	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	936	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACCTCCAATGGCGGCCAGGGT	0.552			T	PDGFRB	MPD								A	144903085	G	A	144903085	3	1	74	1	0	0	0	0	1	0	0	0	11643	1203	42	2	4339	2	PDE4DIP	1	144903085	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	24422514	144903085	104347536	87	50358											
PDE4DIP	9659	broad.mit.edu	37	chr1	145015939	145015939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaatatgtctgcacaaacGggaccttttcaccacttctc	7	12	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:145015939G>A	uc001elx.3	-	3	484	c.149C>T	c.(148-150)CCG>CTG	p.P50L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elm.3_5'UTR|PDE4DIP_uc001eln.3_Missense_Mutation_p.P50L|PDE4DIP_uc001elo.2_Missense_Mutation_p.P121L|PDE4DIP_uc001emh.2_Missense_Mutation_p.P121L|uc001emj.2_Intron	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	Error:Variant_position_missing_in_Q5VU43_after_alignment					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTGCACAAACGGGACCTTTTC	0.443			T	PDGFRB	MPD								A	145015939	G	A	145015939	3	1	74	1	0	0	0	0	1	0	0	0	11643	1116	39	1	8442	1	PDE4DIP	1	145015939	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	112854	145015939	104234682	88	50359											
ECM1	1893	broad.mit.edu	37	chr1	150484010	150484010	+	Frame_Shift_Del	DEL	G	G	-													cactggtgctgcacgcggcaGggggaggctcggttctcctg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:150484010delG	uc001eus.2	+	7	985	c.786delG	c.(784-786)CAGfs	p.Q262fs	ECM1_uc010pce.1_3'UTR|ECM1_uc010pcf.1_3'UTR|ECM1_uc001eut.2_Intron|ECM1_uc001euu.2_Frame_Shift_Del_p.Q291fs|ECM1_uc001euv.2_Frame_Shift_Del_p.Q289fs|ECM1_uc009wlu.2_Frame_Shift_Del_p.Q22fs	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	262	2 X approximate repeats.|1.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCACGCGGCAGGGGGAGGCTC	0.627													-	150484010	G	-	150484010	7	5	74	1	0	1	0	1	0	0	0	0	4897	991	35	0	812	0	ECM1	1	150484010	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	5468071	150484010	98766611	89	50360											
HORMAD1	84072	broad.mit.edu	37	chr1	150676776	150676776	+	Frame_Shift_Del	DEL	T	T	-													caagttcagaagatgcagggTttttttcctgttcttccatt					rs45439605		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:150676776delT	uc001evk.1	-	11	954	c.848delA	c.(847-849)AACfs	p.N283fs	HORMAD1_uc001evl.1_Frame_Shift_Del_p.N276fs|HORMAD1_uc001evm.1_Frame_Shift_Del_p.N203fs	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	HORMA domain containing 1	283					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGATGCAGGGTTTTTTTCCTG	0.289													-	150676776	T	-	150676776	7	5	74	1	0	1	0	1	0	0	0	0	7286	1725	60	0	356	0	HORMAD1	1	150676776	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	192766	150676776	98573845	90	50361											
PSMD4	5710	broad.mit.edu	37	chr1	151239749	151239749	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatgaagccattcgaaatgCtatgggctccctggcctccc	9	14	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:151239749C>A	uc001exl.2	+	10	1126	c.1064C>A	c.(1063-1065)GCT>GAT	p.A355D	PSMD4_uc001exn.2_Missense_Mutation_p.A358D	NM_002810	NP_002801	P55036	PSMD4_HUMAN	proteasome 26S non-ATPase subunit 4	355					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding				0	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATTCGAAATGCTATGGGCTCC	0.547													A	151239749	C	A	151239749	3	1	74	1	0	0	0	0	1	0	0	0	12700	797	28	5	1102	5	PSMD4	1	151239749	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	562973	151239749	98010872	91	50362											
POGZ	23126	broad.mit.edu	37	chr1	151377819	151377819	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctgacaagtgagtgcgaTgacagtccatcacaagcatg	10	10	2	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:151377819T>C	uc001eyd.1	-	19	3998	c.3692A>G	c.(3691-3693)CAT>CGT	p.H1231R	POGZ_uc001eye.1_Missense_Mutation_p.H1178R|POGZ_uc010pdb.1_Missense_Mutation_p.H1222R|POGZ_uc001eyf.1_Missense_Mutation_p.H1187R|POGZ_uc010pdc.1_Missense_Mutation_p.H1169R|POGZ_uc009wmv.1_Missense_Mutation_p.H1136R|POGZ_uc010pdd.1_Missense_Mutation_p.H722R	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1231	DDE.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTGAGTGCGATGACAGTCCAT	0.527													C	151377819	T	C	151377819	3	2	74	1	0	0	0	0	1	0	0	0	12186	1464	51	3	544	3	POGZ	1	151377819	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	138070	151377819	97872802	92	50363											
HRNR	388697	broad.mit.edu	37	chr1	152188393	152188393	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacccctagatgactgtccTgacctagagccgtgttgttc	9	13	1	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:152188393T>C	uc001ezt.1	-	3	5788	c.5712A>G	c.(5710-5712)TCA>TCG	p.S1904S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1904	21.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGACTGTCCTGACCTAGAGC	0.552													C	152188393	T	C	152188393	2	2	74	1	0	0	0	0	0	0	0	1	7359	1567	55	3		3	HRNR	1	152188393	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	810574	152188393	97062228	93	50364											
FLG	2312	broad.mit.edu	37	chr1	152281389	152281389	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcctgttcatgggatgaCgcagcctgtccacgagagga	13	11	1	2	rs138652718	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:152281389C>T	uc001ezu.1	-	3	6009	c.5973G>A	c.(5971-5973)GCG>GCA	p.A1991A		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1991	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGGGATGACGCAGCCTGTC	0.572									Ichthyosis				T	152281389	C	T	152281389	2	4	74	1	0	0	0	0	0	0	0	1	5922	523	19	1		1	FLG	1	152281389	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	92996	152281389	96969232	94	50365											
LCE2A	353139	broad.mit.edu	37	chr1	152671618	152671618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtctcttccaccggcacCggcaccagagccccgattgt	9	19	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:152671618C>T	uc001faj.2	+	2	292	c.241C>T	c.(241-243)CGG>TGG	p.R81W		NM_178428	NP_848515	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	81	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACCGGCACCGGCACCAGAG	0.672													T	152671618	C	T	152671618	3	4	74	1	0	0	0	0	1	0	0	0	8665	643	23	1	243	1	LCE2A	1	152671618	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	390229	152671618	96579003	95	50366											
LCE1F	353137	broad.mit.edu	37	chr1	152749084	152749084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggctgttgcctgagccaCcacagacggcgtaggtccca	14	14	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:152749084C>T	uc010pdv.1	+	1	237	c.237C>T	c.(235-237)CAC>CAT	p.H79H		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	79					keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGAGCCACCACAGACGGC	0.706													T	152749084	C	T	152749084	2	4	74	1	0	0	0	0	0	0	0	1	8664	506	18	4		4	LCE1F	1	152749084	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	77466	152749084	96501537	96	50367											
LCE1A	353131	broad.mit.edu	37	chr1	152799957	152799957	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaccgccgagatgtcctgCcagcagagccagcagcagtg	12	16	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:152799957C>T	uc010pdw.1	+	1	9	c.9C>T	c.(7-9)TGC>TGT	p.C3C		NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	3	Cys-rich.				keratinization					ovary(1)|skin(1)	2	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGATGTCCTGCCAGCAGAGCC	0.368													T	152799957	C	T	152799957	2	4	74	1	0	0	0	0	0	0	0	1	8659	747	26	2		2	LCE1A	1	152799957	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	50873	152799957	96450664	97	50368											
DENND4B	9909	broad.mit.edu	37	chr1	153916623	153916623	+	Frame_Shift_Del	DEL	G	G	-													agtccagcactgagttccaaGgggtggcccccagcagaagc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:153916622_153916622AG>A	uc001fdd.1	-	1	630	c.229_229CT>T	c.(229-231)ttgfs	p.L77fs		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	77	MABP.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGAGTTCCAAGGGGTGGCCC	0.632													-	153916623	G	-	153916623	7	5	74	1	0	1	0	1	0	0	0	0	4434	987	35	0	4370	0	DENND4B	1	153916623	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	1116666	153916623	95333998	98	50369											
UBAP2L	9898	broad.mit.edu	37	chr1	154201200	154201200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggaaggaaacccagacaCggtagagtgcttatagagtg	13	7	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:154201200C>T	uc001fep.3	+	4	445	c.278C>T	c.(277-279)ACG>ATG	p.T93M	UBAP2L_uc009wot.2_Missense_Mutation_p.T93M|UBAP2L_uc010pek.1_Missense_Mutation_p.T92M|UBAP2L_uc010pel.1_Missense_Mutation_p.T92M|UBAP2L_uc001fen.1_Missense_Mutation_p.T92M|UBAP2L_uc010pem.1_Missense_Mutation_p.T92M|UBAP2L_uc010pen.1_Translation_Start_Site	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	93					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AACCCAGACACGGTAGAGTGC	0.433													T	154201200	C	T	154201200	3	4	74	1	0	0	0	0	1	0	0	0	16835	550	19	1	288	1	UBAP2L	1	154201200	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	284577	154201200	95049421	99	50370											
PYGO2	90780	broad.mit.edu	37	chr1	154932028	154932029	+	Frame_Shift_Ins	INS	-	-	G													ggtgggtagccaggaccctgINSggggggcatgttgaaagcag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:154932027_154932028T>TG	uc001fft.3	-	2	654_655	c.448_449A>CA	c.(448-450)cagfs	p.Q150fs		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA.	150	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding	p.Q150fs*27(4)		endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCAGGACCCTGGGGGGGCATG	0.619													G	154932029	-	G	154932028	7	5	74	1	0	1	1	0	0	0	0	0	12864	1357	47	0	776	0	PYGO2	1	154932028	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	730828	154932028	94318593	100	50371											
DCST1	149095	broad.mit.edu	37	chr1	155007180	155007180	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catctacgaagaacagaagaTtatgttcttgtacagcttgg	9	7	2	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:155007180T>A	uc001fgn.1	+	4	335	c.239T>A	c.(238-240)ATT>AAT	p.I80N	DCST2_uc001fgm.2_5'Flank|DCST2_uc009wpb.2_5'Flank|DCST1_uc010per.1_Missense_Mutation_p.I105N|DCST1_uc010pes.1_Intron	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1 isoform 1	80	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(1)|skin(1)	2	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAACAGAAGATTATGTTCTTG	0.532													A	155007180	T	A	155007180	3	1	74	1	0	0	0	0	1	0	0	0	4302	1493	52	5	249	5	DCST1	1	155007180	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	75152	155007180	94243441	101	50372											
CLK2	1196	broad.mit.edu	37	chr1	155233110	155233110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcacccaaggtcagccGcttagctggttcatactcta	9	13	4	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:155233110G>A	uc001fjy.2	-	13	1689	c.1399C>T	c.(1399-1401)CGG>TGG	p.R467W	RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjr.2_5'Flank|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Missense_Mutation_p.R466W|CLK2_uc001fjx.2_Missense_Mutation_p.R239W|CLK2_uc009wqm.2_Missense_Mutation_p.R467W	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	467	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AAGGTCAGCCGCTTAGCTGGT	0.572								Other_conserved_DNA_damage_response_genes					A	155233110	G	A	155233110	3	1	74	1	0	0	0	0	1	0	0	0	3537	1086	38	1	104	1	CLK2	1	155233110	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	225930	155233110	94017511	102	50373											
RUSC1	23623	broad.mit.edu	37	chr1	155300301	155300301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggatgaggactggctccGctgtgggcgggatggcatgg	20	7	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:155300301G>A	uc001fkj.2	+	10	2877	c.2648G>A	c.(2647-2649)CGC>CAC	p.R883H	RAG1AP1_uc010pey.1_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.R777H|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_Missense_Mutation_p.R414H|RUSC1_uc001fkl.2_Missense_Mutation_p.R473H|RUSC1_uc001fkp.2_Missense_Mutation_p.R414H|RUSC1_uc001fkq.2_Missense_Mutation_p.R308H|RUSC1_uc010pgb.1_Missense_Mutation_p.R381H|RUSC1_uc009wqp.1_Missense_Mutation_p.R408H|RUSC1_uc001fkn.2_Missense_Mutation_p.R192H|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Missense_Mutation_p.R414H|RUSC1_uc001fks.2_Missense_Mutation_p.R150H	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	883	SH3.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GACTGGCTCCGCTGTGGGCGG	0.602													A	155300301	G	A	155300301	3	1	74	1	0	0	0	0	1	0	0	0	13750	1087	38	1	2813	1	RUSC1	1	155300301	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	67191	155300301	93950320	103	50374											
SSR2	6746	broad.mit.edu	37	chr1	155989860	155989860	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtctcgtccctccacggcGtatctgttcagcagtgattt	10	12	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:155989860G>A	uc001fmx.2	-	2	179	c.99C>T	c.(97-99)TAC>TAT	p.Y33Y	SSR2_uc001fmw.2_RNA|SSR2_uc001fmy.2_RNA|SSR2_uc010pgv.1_Silent_p.Y52Y|SSR2_uc010pgw.1_Silent_p.Y52Y	NM_003145	NP_003136	P43308	SSRB_HUMAN	signal sequence receptor, beta precursor	33	Lumenal (Potential).				cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding				0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCTCCACGGCGTATCTGTTCA	0.488													A	155989860	G	A	155989860	2	1	74	1	0	0	0	0	0	0	0	1	15190	1140	40	1		1	SSR2	1	155989860	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	689559	155989860	93260761	104	50375											
C1orf85	112770	broad.mit.edu	37	chr1	156264771	156264771	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatatgaagcaggttctgcaGggggcccagccagttaggga	15	8	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:156264771G>A	uc001foh.2	-	2	170	c.157C>T	c.(157-159)CTG>TTG	p.L53L	C1orf85_uc001fof.3_5'Flank|C1orf85_uc001fog.1_RNA|C1orf85_uc001foi.2_Silent_p.L53L|C1orf85_uc009wrx.2_Silent_p.L53L|C1orf85_uc001foj.2_Intron	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN	kidney predominant protein NCU-G1 precursor	53	Lumenal (Potential).				positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)	2	Hepatocellular(266;0.158)					AGGTTCTGCAGGGGGCCCAGC	0.567													A	156264771	G	A	156264771	2	1	74	1	0	0	0	0	0	0	0	1	2062	991	35	4		4	C1orf85	1	156264771	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	274911	156264771	92985850	105	50376											
IQGAP3	128239	broad.mit.edu	37	chr1	156498742	156498742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtggtccaggcaggcccGgatgtactggctgtagtagt	16	9	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:156498742G>A	uc001fpf.2	-	35	4612	c.4537C>T	c.(4537-4539)CGG>TGG	p.R1513W		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1513					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGCAGGCCCGGATGTACTGG	0.582													A	156498742	G	A	156498742	3	1	74	1	0	0	0	0	1	0	0	0	7816	1115	39	1	374	1	IQGAP3	1	156498742	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	233971	156498742	92751879	106	50377											
NES	10763	broad.mit.edu	37	chr1	156642653	156642653	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccccaggctcctctggtcCaggcaggacgctggcaggaa	14	15	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:156642653C>A	uc001fpq.2	-	4	1460	c.1327G>T	c.(1327-1329)GGA>TGA	p.G443*		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	443	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCTCTGGTCCAGGCAGGACG	0.667													A	156642653	C	A	156642653	4	1	74	1	0	0	0	0	0	1	0	0	10337	603	21	5	3542	5	NES	1	156642653	Nonsense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	143911	156642653	92607968	107	50378											
ETV3L	440695	broad.mit.edu	37	chr1	157062449	157062449	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cttcctctctagttaaggagGatccaagggccacactgctt	9	12	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:157062449G>T	uc001fqq.1	-	5	1363	c.1078C>A	c.(1078-1080)CCT>ACT	p.P360T		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	360						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Hepatocellular(266;0.158)	Prostate(1639;0.184)				AGTTAAGGAGGATCCAAGGGC	0.577													T	157062449	G	T	157062449	3	4	74	1	0	0	0	0	1	0	0	0	5280	1174	41	5	11	5	ETV3L	1	157062449	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	419796	157062449	92188172	108	50379											
KIRREL	55243	broad.mit.edu	37	chr1	158058203	158058203	+	Frame_Shift_Del	DEL	C	C	-													cctgtgtctgggttgggaatCcccccctcactctcacctgg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:158058202_158058202TC>T	uc001frn.4	+	7	1406	c.1002_1002TC>T	c.(1000-1002)aatfs	p.N334fs	KIRREL_uc010pib.2_Frame_Shift_Del_p.N234fs|KIRREL_uc009wsq.3_Frame_Shift_Del_p.N170fs|KIRREL_uc001fro.4_Frame_Shift_Del_p.N132fs	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.	334	Ig-like C2-type 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGGTTGGGAATCCCCCCCTCA	0.453													-	158058203	C	-	158058203	7	5	74	1	0	1	0	1	0	0	0	0	8324	855	30	0	1033	0	KIRREL	1	158058203	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	995754	158058203	91192418	109	50380											
CD1D	912	broad.mit.edu	37	chr1	158151369	158151369	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagctggagcaacgactcGgacaccgtccgctctctgaa	10	15	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:158151369G>A	uc001frr.2	+	3	685	c.186G>A	c.(184-186)TCG>TCA	p.S62S	CD1D_uc009wsr.1_Silent_p.S62S|CD1D_uc009wss.2_Silent_p.S62S|CD1D_uc009wst.1_5'UTR	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	62	Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			ovary(1)	1	all_hematologic(112;0.0378)					GCAACGACTCGGACACCGTCC	0.617													A	158151369	G	A	158151369	2	1	74	1	0	0	0	0	0	0	0	1	2977	1103	39	1		1	CD1D	1	158151369	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	93166	158151369	91099252	110	50381											
OR10R2	343406	broad.mit.edu	37	chr1	158449951	158449951	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctgagaccttctacacctTtgtcattctacccaagatgc	5	13	4	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:158449951T>C	uc010pik.1	+	1	284	c.284T>C	c.(283-285)TTT>TCT	p.F95S	uc001fso.1_RNA	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	95	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)					TTCTACACCTTTGTCATTCTA	0.433													C	158449951	T	C	158449951	3	2	74	1	0	0	0	0	1	0	0	0	10917	1841	64	3	286	3	OR10R2	1	158449951	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	298582	158449951	90800670	111	50382											
SLAMF9	89886	broad.mit.edu	37	chr1	159922266	159922266	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcacaccagggacatactGcaggcaccttccccagaact	9	15	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:159922266G>A	uc001fus.2	-	3	567	c.450C>T	c.(448-450)TGC>TGT	p.C150C	SLAMF9_uc009wtd.2_Intron|SLAMF9_uc001fut.2_Intron	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	SLAM family member 9 isoform 1	150	Ig-like C2-type.|Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGACATACTGCAGGCACCTT	0.537													A	159922266	G	A	159922266	2	1	74	1	0	0	0	0	0	0	0	1	14371	1311	46	2		2	SLAMF9	1	159922266	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1472315	159922266	89328355	112	50383											
CASQ1	844	broad.mit.edu	37	chr1	160168836	160168837	+	Frame_Shift_Ins	INS	-	-	C													tggattgaccctgatgacttINSccccctggtaagaggcacag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:160168836_160168837insC	uc010pja.1	+	9	1234_1235	c.977_978insC	c.(976-978)TTCfs	p.F326fs		NM_001231	NP_001222	P31415	CASQ1_HUMAN	calsequestrin 1	326						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			central_nervous_system(1)	1	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTGATGACTTCCCCCTGGTAA	0.505													C	160168837	-	C	160168836	7	5	74	1	0	1	1	0	0	0	0	0	2680	1783	62	0	1011	0	CASQ1	1	160168836	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	246570	160168836	89081785	113	50384	200	2									
CASQ1	844	broad.mit.edu	37	chr1	160168837	160168838	+	Frame_Shift_Ins	INS	-	-	C													ggattgaccctgatgacttcINScccctggtaagaggcacagc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:160168836_160168837T>TC	uc010pja.2	+	8	1234_1235	c.977_978T>TC	c.(976-978)ttcfs	p.F326fs		NM_001231	NP_001222	P31415	CASQ1_HUMAN	Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA.	326						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTGATGACTTCCCCCTGGTAA	0.505													C	160168838	-	C	160168837	7	5	74	1	0	1	1	0	0	0	0	0	2680	854	30	0	1012	0	CASQ1	1	160168837	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1	160168837	89081784	114	50385	200	2									
PVRL4	81607	broad.mit.edu	37	chr1	161049551	161049551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcgtaagccgggctcaCatgaagcccgtatttggagt	12	12	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:161049551C>T	uc001fxo.2	-	2	567	c.268G>A	c.(268-270)GTG>ATG	p.V90M		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	90	Ig-like V-type 1.|Extracellular (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCCGGGCTCACATGAAGCCCG	0.692													T	161049551	C	T	161049551	3	4	74	1	0	0	0	0	1	0	0	0	12842	478	17	4	1296	4	PVRL4	1	161049551	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	880714	161049551	88201070	115	50386											
PFDN2	5202	broad.mit.edu	37	chr1	161072141	161072141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggcctcgctgttcctgccGaaggcggttgaagccagcaa	13	13	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:161072141G>A	uc001fxu.2	-	2	150	c.100C>T	c.(100-102)CGG>TGG	p.R34W		NM_012394	NP_036526	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	34				GFNRLR -> SFNAF (in Ref. 3; AAF36151).	'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding				0	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGTTCCTGCCGAAGGCGGTTG	0.527													A	161072141	G	A	161072141	3	1	74	1	0	0	0	0	1	0	0	0	11756	1057	37	1	376	1	PFDN2	1	161072141	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	22590	161072141	88178480	116	50387											
ADAMTS4	9507	broad.mit.edu	37	chr1	161167952	161167952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggtggagttcagccccccGatattgtaacacgcctaaca	10	12	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:161167952G>A	uc001fyt.3	-	1	894	c.466C>T	c.(466-468)CGG>TGG	p.R156W	ADAMTS4_uc001fyu.2_Missense_Mutation_p.R156W|NDUFS2_uc001fyv.2_5'Flank	NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	156					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCAGCCCCCCGATATTGTAAC	0.632													A	161167952	G	A	161167952	3	1	74	1	0	0	0	0	1	0	0	0	268	1057	37	1	2083	1	ADAMTS4	1	161167952	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	95811	161167952	88082669	117	50388											
DDR2	4921	broad.mit.edu	37	chr1	162749984	162749984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagagatacgaagaaccGtccctcattccaagaaatcc	8	11	1	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:162749984G>A	uc001gcf.2	+	19	2981	c.2516G>A	c.(2515-2517)CGT>CAT	p.R839H	DDR2_uc001gcg.2_Missense_Mutation_p.R839H|uc001gch.1_5'Flank	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	839	Cytoplasmic (Potential).|Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ACGAAGAACCGTCCCTCATTC	0.498													A	162749984	G	A	162749984	3	1	74	1	0	0	0	0	1	0	0	0	4337	1145	40	1	2578	1	DDR2	1	162749984	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1582032	162749984	86500637	118	50389											
C1orf112	55732	broad.mit.edu	37	chr1	169790867	169790867	+	Frame_Shift_Del	DEL	T	T	-													aaaacactcaaattgtgtcgTttttttgccaactccctttt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:169790866_169790866GT>G	uc001ggq.3	+	8	1449	c.749_749GT>G	c.(748-750)cgtfs	p.R250fs	C1orf112_uc001ggj.3_Non-coding_Transcript|C1orf112_uc001ggp.3_Frame_Shift_Del_p.R250fs|C1orf112_uc009wvt.3_5'UTR|C1orf112_uc010plu.1_Frame_Shift_Del_p.R221fs|C1orf112_uc009wvu.1_Intron|C1orf112_uc001ggr.3_Frame_Shift_Del_p.R115fs|C1orf112_uc010plv.2_Frame_Shift_Del_p.R192fs	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA.	250										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAATTGTGTCGTTTTTTTGCC	0.299													-	169790867	T	-	169790867	7	5	74	1	0	1	0	1	0	0	0	0	1985	1712	60	0	776	0	C1orf112	1	169790867	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	7040883	169790867	79459754	119	50390											
TNN	63923	broad.mit.edu	37	chr1	175048696	175048696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcggacacggcgagtgcGtgcgcggcgtgtgccagtgc	19	12	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:175048696G>A	uc001gkl.1	+	3	750	c.637G>A	c.(637-639)GTG>ATG	p.V213M	TNN_uc010pmx.1_Missense_Mutation_p.V213M	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	213	EGF-like 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGGCGAGTGCGTGCGCGGCGT	0.692													A	175048696	G	A	175048696	3	1	74	1	0	0	0	0	1	0	0	0	16320	1145	40	1	643	1	TNN	1	175048696	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	5257829	175048696	74201925	120	50391											
CEP350	9857	broad.mit.edu	37	chr1	180063462	180063462	+	Frame_Shift_Del	DEL	A	A	-													gaagtcatcactaaatgaggAaaaaaagtcaaaacaacaac							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:180063462delA	uc001gnt.2	+	34	8605	c.8222delA	c.(8221-8223)GAAfs	p.E2741fs	CEP350_uc009wxl.2_Frame_Shift_Del_p.E2740fs|CEP350_uc001gnv.2_Frame_Shift_Del_p.E876fs|CEP350_uc001gnw.1_Frame_Shift_Del_p.E498fs|CEP350_uc001gnx.1_Frame_Shift_Del_p.E498fs	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	2741	Potential.					centrosome|nucleus|spindle				ovary(4)	4						CTAAATGAGGAAAAAAAGTCA	0.353													-	180063462	A	-	180063462	7	5	74	1	0	1	0	1	0	0	0	0	3254	246	9	0	8352	0	CEP350	1	180063462	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	5014766	180063462	69187159	121	50392											
RGS16	6004	broad.mit.edu	37	chr1	182571596	182571596	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaacgactctctccaccccAgcacatcttctgagaagttt	6	15	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:182571596A>G	uc001gpl.3	-	3	333	c.179T>C	c.(178-180)CTG>CCG	p.L60P	RGS16_uc010pnv.1_Missense_Mutation_p.L60P	NM_002928	NP_002919	O15492	RGS16_HUMAN	regulator of G-protein signalling 16	60					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(1)	1						TCTCCACCCCAGCACATCTTC	0.383													G	182571596	A	G	182571596	3	3	74	1	0	0	0	0	1	0	0	0	13298	188	7	3	441	3	RGS16	1	182571596	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	2508134	182571596	66679025	122	50393											
LAMC1	3915	broad.mit.edu	37	chr1	183094605	183094606	+	Frame_Shift_Ins	INS	-	-	T													tgacggggcagtgtgaatgtINSttgcctcacgtgactggcca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:183094604_183094605G>GT	uc001gpy.4	+	14	2977_2978	c.2720_2721G>GT	c.(2719-2721)tgtfs	p.C907fs		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	907	Laminin EGF-like 9.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGTGTGAATGTTTGCCTCACG	0.535													T	183094606	-	T	183094605	7	5	74	1	0	1	1	0	0	0	0	0	8614	1731	60	0	2779	0	LAMC1	1	183094605	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	523009	183094605	66156016	123	50394											
RGL1	23179	broad.mit.edu	37	chr1	183895311	183895311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactttgacttcattttgcGcaaaaagaactccatggaag	8	8	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:183895311G>A	uc001gqo.2	+	18	2349	c.2192G>A	c.(2191-2193)CGC>CAC	p.R731H	RGL1_uc001gqm.2_Missense_Mutation_p.R766H|RGL1_uc010pog.1_Missense_Mutation_p.R729H|RGL1_uc010poh.1_Missense_Mutation_p.R729H|RGL1_uc010poi.1_Missense_Mutation_p.R702H	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	731	Ras-associating.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|ovary(4)|lung(2)	11						TTCATTTTGCGCAAAAAGAAC	0.453													A	183895311	G	A	183895311	3	1	74	1	0	0	0	0	1	0	0	0	13276	1087	38	1	2367	1	RGL1	1	183895311	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	800706	183895311	65355310	124	50395											
C1orf21	81563	broad.mit.edu	37	chr1	184567582	184567582	+	Frame_Shift_Del	DEL	A	A	-													attcttcagaatgctggatgAaaaaattgaaaaggtaagaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:184567582delA	uc001gqv.1	+	5	791	c.314delA	c.(313-315)GAAfs	p.E105fs		NM_030806	NP_110433	Q9H246	CA021_HUMAN	chromosome 1 open reading frame 21	105											0		Breast(1374;0.00262)		Colorectal(1306;4.8e-08)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)		ATGCTGGATGAAAAAATTGAA	0.343													-	184567582	A	-	184567582	7	5	74	1	0	1	0	1	0	0	0	0	2028	246	9	0	328	0	C1orf21	1	184567582	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	672271	184567582	64683039	125	50396											
HMCN1	83872	broad.mit.edu	37	chr1	186106744	186106744	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttccagccaatggtgggaAgccctgccaaggttcagatt	11	12	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:186106744A>G	uc001grq.1	+	88	13926	c.13697A>G	c.(13696-13698)AAG>AGG	p.K4566R	HMCN1_uc001grs.1_Missense_Mutation_p.K135R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4566	TSP type-1 1.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AATGGTGGGAAGCCCTGCCAA	0.493													G	186106744	A	G	186106744	3	3	74	1	0	0	0	0	1	0	0	0	7220	72	3	3	14047	3	HMCN1	1	186106744	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1539162	186106744	63143877	126	50397											
CFHR3	10878	broad.mit.edu	37	chr1	196759285	196759285	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgagtaccaatgccagcccTactatgaacttcagggttct	8	12	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:196759285T>C	uc001gtl.2	+	5	811	c.724T>C	c.(724-726)TAC>CAC	p.Y242H	CFHR3_uc010poy.1_Missense_Mutation_p.Y181H|CFHR1_uc001gtm.2_Intron	NM_021023	NP_066303	Q02985	FHR3_HUMAN	complement factor H-related 3 precursor	242	Sushi 4.					extracellular space					0						ATGCCAGCCCTACTATGAACT	0.433													C	196759285	T	C	196759285	3	2	74	1	0	0	0	0	1	0	0	0	3286	1522	53	3	742	3	CFHR3	1	196759285	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	10652541	196759285	52491336	127	50398											
ASPM	259266	broad.mit.edu	37	chr1	197071073	197071074	+	Frame_Shift_Ins	INS	-	-	A													ctcgatatttcctctgaacaINSaaaatagtagcttttttgag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:197071072_197071073C>CA	uc001gtu.3	-	17	7565_7566	c.7308_7309G>TG	c.(7306-7311)tttgttfs	p.F2436fs	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Frame_Shift_Ins_p.F284fs	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2436	IQ 25.				mitosis	cytoplasm|nucleus	calmodulin binding	p.I2435T(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCCTCTGAACAAAAATAGTAG	0.371													A	197071074	-	A	197071073	7	5	74	1	0	1	1	0	0	0	0	0	1056	127	5	0	3169	0	ASPM	1	197071073	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	311788	197071073	52179548	128	50399											
ASPM	259266	broad.mit.edu	37	chr1	197073026	197073026	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgctttgtatgcatgAtagtaattctgaatgacaat	8	6	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:197073026A>G	uc001gtu.2	-	18	5612	c.5355T>C	c.(5353-5355)TAT>TAC	p.Y1785Y	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1785					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TGTATGCATGATAGTAATTCT	0.368													G	197073026	A	G	197073026	2	3	74	1	0	0	0	0	0	0	0	1	1056	340	12	3		3	ASPM	1	197073026	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1953	197073026	52177595	129	50400											
NR5A2	2494	broad.mit.edu	37	chr1	200017448	200017448	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgatccaagctatgccCtctgacctgaccatttcctc	7	15	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:200017448C>T	uc001gvb.2	+	5	818	c.612C>T	c.(610-612)CCC>CCT	p.P204P	NR5A2_uc001gvc.2_Silent_p.P158P|NR5A2_uc009wzh.2_Silent_p.P164P|NR5A2_uc010pph.1_Silent_p.P132P	NM_205860	NP_995582	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	204					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Prostate(682;0.19)					AAGCTATGCCCTCTGACCTGA	0.498													T	200017448	C	T	200017448	2	4	74	1	0	0	0	0	0	0	0	1	10636	668	24	4		4	NR5A2	1	200017448	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2944422	200017448	49233173	130	50401											
KIF14	9928	broad.mit.edu	37	chr1	200567387	200567388	+	Frame_Shift_Ins	INS	-	-	C													tgatcatcagcaatcagcacINScccagataactgaatatcat					rs140705314		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:200567386_200567387A>AC	uc010ppk.1	-	13	2966_2967	c.2527_2528T>GT	c.(2527-2529)gtgfs	p.V843fs	KIF14_uc010ppj.1_Frame_Shift_Ins_p.V352fs	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	843	FHA.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	p.G842G(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						AGCAATCAGCACCCCAGATAAC	0.351													C	200567388	-	C	200567387	7	5	74	1	0	1	1	0	0	0	0	0	8276	507	18	0	2487	0	KIF14	1	200567387	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	549939	200567387	48683234	131	50402											
CAMSAP1L1	23271	broad.mit.edu	37	chr1	200776602	200776602	+	Frame_Shift_Del	DEL	T	T	-													tgtgctcagcagtattcagcTttttttcaagccacagatct							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:200776602delT	uc001gvl.2	+	3	768	c.498delT	c.(496-498)GCTfs	p.A166fs	CAMSAP1L1_uc001gvk.2_Frame_Shift_Del_p.A166fs|CAMSAP1L1_uc001gvm.2_Frame_Shift_Del_p.A166fs	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	166						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						AGTATTCAGCTTTTTTTCAAG	0.398													-	200776602	T	-	200776602	7	5	74	1	0	1	0	1	0	0	0	0	2612	1596	56	0	508	0	CAMSAP1L1	1	200776602	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	209215	200776602	48474019	132	50403											
IGFN1	91156	broad.mit.edu	37	chr1	201184737	201184737	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcaaggctgggaagccGgtgatagtgaagatcccctt	15	8	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:201184737G>A	uc001gwc.2	+	4	1318	c.546G>A	c.(544-546)CCG>CCA	p.P182P	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						CTGGGAAGCCGGTGATAGTGA	0.562													A	201184737	G	A	201184737	2	1	74	1	0	0	0	0	0	0	0	1	7590	1103	39	1		1	IGFN1	1	201184737	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	408135	201184737	48065884	133	50404											
NAV1	89796	broad.mit.edu	37	chr1	201751434	201751434	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccctcgggcattgctcgCccctccacttcgggatcctt	8	20	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:201751434C>T	uc001gwu.2	+	6	2141	c.1794C>T	c.(1792-1794)CGC>CGT	p.R598R	NAV1_uc001gwv.1_Silent_p.R106R|NAV1_uc001gww.1_Silent_p.R207R|NAV1_uc001gwx.2_Silent_p.R207R|NAV1_uc001gwy.1_5'UTR	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	598					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						GCATTGCTCGCCCCTCCACTT	0.582													T	201751434	C	T	201751434	2	4	74	1	0	0	0	0	0	0	0	1	10183	726	26	2		2	NAV1	1	201751434	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	566697	201751434	47499187	134	50405											
LGR6	59352	broad.mit.edu	37	chr1	202276051	202276051	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaccttcagccagctgAgctccctgcaagccctgtga	9	16	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:202276051A>G	uc001gxu.2	+	13	1192	c.1192A>G	c.(1192-1194)AGC>GGC	p.S398G	LGR6_uc001gxv.2_Missense_Mutation_p.S346G|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.S259G|LGR6_uc009xac.1_RNA	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	398	Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						CAGCCAGCTGAGCTCCCTGCA	0.597													G	202276051	A	G	202276051	3	3	74	1	0	0	0	0	1	0	0	0	8758	304	11	3	1389	3	LGR6	1	202276051	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	524617	202276051	46974570	135	50406											
PPP1R12B	4660	broad.mit.edu	37	chr1	202462365	202462365	+	Frame_Shift_Del	DEL	G	G	-													aagggcttgaggggagccctGagaagcatgagccctcagca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:202462365delG	uc001gya.1	+	15	2209	c.2065delG	c.(2065-2067)GAGfs	p.E689fs	PPP1R12B_uc001gxz.1_Frame_Shift_Del_p.E689fs|PPP1R12B_uc001gyb.1_5'UTR|PPP1R12B_uc001gyc.1_5'UTR	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	689					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			GGGGAGCCCTGAGAAGCATGA	0.597													-	202462365	G	-	202462365	7	5	74	1	0	1	0	1	0	0	0	0	12355	1291	45	0	2213	0	PPP1R12B	1	202462365	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	186314	202462365	46788256	136	50407											
PPFIA4	8497	broad.mit.edu	37	chr1	203044748	203044748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgccctcctggaggaagcGcttccggccgcgggagcacc	15	17	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:203044748G>A	uc001gyz.2	+	16	2512	c.1919G>A	c.(1918-1920)CGC>CAC	p.R640H	PPFIA4_uc009xaj.2_Missense_Mutation_p.R1271H|PPFIA4_uc010pqf.1_Missense_Mutation_p.R853H|PPFIA4_uc001gza.2_Missense_Mutation_p.R631H|PPFIA4_uc001gzb.1_Missense_Mutation_p.R326H|PPFIA4_uc001gzc.1_Missense_Mutation_p.R182H	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	640					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						TGGAGGAAGCGCTTCCGGCCG	0.706													A	203044748	G	A	203044748	3	1	74	1	0	0	0	0	1	0	0	0	12312	1087	38	1	1981	1	PPFIA4	1	203044748	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	582383	203044748	46205873	137	50408											
CHIT1	1118	broad.mit.edu	37	chr1	203192711	203192711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggtcaaggccgtcaaagCtgtatttgcgcagaaacctg	11	10	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:203192711C>T	uc001gzn.2	-	5	488	c.392G>A	c.(391-393)AGC>AAC	p.S131N	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.S122N	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	chitotriosidase precursor	131					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0						GCCGTCAAAGCTGTATTTGCG	0.562													T	203192711	C	T	203192711	3	4	74	1	0	0	0	0	1	0	0	0	3346	797	28	2	1036	2	CHIT1	1	203192711	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	147963	203192711	46057910	138	50409											
LAX1	54900	broad.mit.edu	37	chr1	203741258	203741259	+	Frame_Shift_Ins	INS	-	-	GAGAGCCC													cctcctctccagaaattctgINSagagcccggagcatgtggta							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:203741257_203741258T>TGAGAGCCC	uc001haa.3	+	3	782_783	c.372_373T>TGAGAGCCC	c.(370-375)tctgagfs	p.S124fs	LAX1_uc010pql.2_Frame_Shift_Ins_p.S108fs|LAX1_uc001hab.3_Frame_Shift_Ins_p.S48fs	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	Homo sapiens lymphocyte transmembrane adaptor 1 (LAX1), transcript variant 1, mRNA.	124					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	SH2 domain binding|protein kinase binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCAGAAATTCTGAGAGCCCGGA	0.485													GAGAGCCC	203741259	-	GAGAGCCC	203741258	7	5	74	1	0	1	1	0	0	0	0	0	8648	1291	45	0	432	0	LAX1	1	203741258	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	548547	203741258	45509363	139	50410											
PLEKHA6	22874	broad.mit.edu	37	chr1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-													aaggtcttcaggcgggggtaCcccccggcgcagattcaccc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:204228410_204228410AC>A	uc001hau.3	-	7	1300	c.983_983GT>T	c.(982-984)gtafs	p.V328fs	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	328	Pro-rich.							p.V328fs*172(3)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			AGGCGGGGGTACCCCCCGGCG	0.627													-	204228411	C	-	204228411	7	5	74	1	0	1	0	1	0	0	0	0	12060	507	18	0	2224	0	PLEKHA6	1	204228411	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	487153	204228411	45022210	140	50411											
SLC26A9	115019	broad.mit.edu	37	chr1	205899107	205899107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaggatctgcaggccggcGgccgtcatgaagccccggat	14	13	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:205899107G>A	uc001hdq.2	-	6	744	c.630C>T	c.(628-630)GCC>GCT	p.A210A	SLC26A9_uc001hdo.2_5'Flank|SLC26A9_uc001hdp.2_Silent_p.A210A	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	solute carrier family 26, member 9 isoform a	210	Helical; (Potential).					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			ovary(1)|skin(1)	2	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GCAGGCCGGCGGCCGTCATGA	0.572													A	205899107	G	A	205899107	2	1	74	1	0	0	0	0	0	0	0	1	14524	1103	39	1		1	SLC26A9	1	205899107	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1670696	205899107	43351514	141	50412											
CTSE	1510	broad.mit.edu	37	chr1	206331126	206331126	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggatgtcttcattcgacagTtttactcagtctttgaccgt	9	9	4	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:206331126T>C	uc001hdu.2	+	9	1250	c.1132T>C	c.(1132-1134)TTT>CTT	p.F378L	CTSE_uc001hdv.2_Silent_p.S330S|CTSE_uc010prs.1_Silent_p.S255S	NM_001910	NP_001901	P14091	CATE_HUMAN	cathepsin E isoform a preproprotein	383					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CATTCGACAGTTTTACTCAGT	0.567													C	206331126	T	C	206331126	3	2	74	1	0	0	0	0	1	0	0	0	4033	1725	60	3	1166	3	CTSE	1	206331126	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	432019	206331126	42919495	142	50413											
LAMB3	3914	broad.mit.edu	37	chr1	209800902	209800902	+	Frame_Shift_Del	DEL	C	C	-													cacggcatgtccctccgggaCcccaggatgttgcagtcaca					rs2229468	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:209800901_209800901AC>A	uc001hhg.3	-	10	1702	c.1312_1312GT>T	c.(1312-1314)tccfs	p.S438fs	LAMB3_uc009xco.3_Frame_Shift_Del_p.S438fs|LAMB3_uc001hhh.3_Frame_Shift_Del_p.S438fs|LAMB3_uc010psl.1_Non-coding_Transcript	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	438	Laminin EGF-like 4.		S -> T (in dbSNP:rs2229468).		cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TCCCTCCGGGACCCCAGGATG	0.607											OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	209800902	C	-	209800902	7	5	74	1	0	1	0	1	0	0	0	0	8612	494	18	0	2255	0	LAMB3	1	209800902	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	3469776	209800902	39449719	143	50414											
C1orf107	27042	broad.mit.edu	37	chr1	210016834	210016834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagattttgccacagtatcGtgatgcagtcatgtctcaca	8	10	2	2	rs138648804		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:210016834G>A	uc001hhr.1	+	11	1896	c.1820G>A	c.(1819-1821)CGT>CAT	p.R607H	C1orf107_uc009xcu.1_Missense_Mutation_p.R322H	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	digestive-organ expansion factor homolog	607					multicellular organismal development	nucleus					0				OV - Ovarian serous cystadenocarcinoma(81;0.0367)		CCACAGTATCGTGATGCAGTC	0.398													A	210016834	G	A	210016834	3	1	74	1	0	0	0	0	1	0	0	0	1981	1145	40	1	1862	1	C1orf107	1	210016834	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	215932	210016834	39233787	144	50415											
CENPF	1063	broad.mit.edu	37	chr1	214820743	214820743	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgtcctttgttgaaaaAgtaagtggctatatctgttt	8	4	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:214820743A>C	uc001hkm.2	+	13	8004	c.7830A>C	c.(7828-7830)AAA>AAC	p.K2610N		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2706	Potential.|Sufficient for self-association.|Sufficient for centromere localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTGTTGAAAAAGTAAGTGGCT	0.353													C	214820743	A	C	214820743	3	2	74	1	0	0	0	0	1	0	0	0	3231	86	3	5	7876	5	CENPF	1	214820743	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	4803909	214820743	34429878	145	50416											
USH2A	7399	broad.mit.edu	37	chr1	216496917	216496917	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaatgaaaccttatttgCgtggcttttacgaactcttg	8	7	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:216496917C>T	uc001hku.1	-	8	1836	c.1449G>A	c.(1447-1449)ACG>ACA	p.T483T	USH2A_uc001hkv.2_Silent_p.T483T	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	483	Laminin N-terminal.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCTTATTTGCGTGGCTTTTA	0.408										HNSCC(13;0.011)			T	216496917	C	T	216496917	2	4	74	1	0	0	0	0	0	0	0	1	17033	755	27	1		1	USH2A	1	216496917	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1676174	216496917	32753704	146	50417											
USH2A	7399	broad.mit.edu	37	chr1	216498890	216498890	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagggcaacggcaatgTgattgggcatgcaatctgag	14	9	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:216498890T>C	uc001hku.1	-	6	1287	c.900A>G	c.(898-900)TCA>TCG	p.S300S	USH2A_uc001hkv.2_Silent_p.S300S	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	300	Laminin N-terminal.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AACGGCAATGTGATTGGGCAT	0.507										HNSCC(13;0.011)			C	216498890	T	C	216498890	2	2	74	1	0	0	0	0	0	0	0	1	17033	1683	59	3		3	USH2A	1	216498890	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	1973	216498890	32751731	147	50418											
DUSP10	11221	broad.mit.edu	37	chr1	221879616	221879616	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaggtcctgagcatccTgctcattgccaaggaacagg	11	12	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:221879616T>C	uc001hmy.1	-	3	1186	c.1004A>G	c.(1003-1005)CAG>CGG	p.Q335R	DUSP10_uc001hmx.1_5'UTR|DUSP10_uc001hmz.1_5'UTR	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	335					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)		CTGAGCATCCTGCTCATTGCC	0.582													C	221879616	T	C	221879616	3	2	74	1	0	0	0	0	1	0	0	0	4810	1580	55	3	452	3	DUSP10	1	221879616	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	5380726	221879616	27371005	148	50419											
FAM177B	400823	broad.mit.edu	37	chr1	222919894	222919895	+	Frame_Shift_Del	DEL	AT	AT	-													tgttttgtttcattatggagAttgacggtttccagcagtta					rs2378607	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:222919894_222919895delAT	uc001hnt.2	+	3	273_274	c.7_8delAT	c.(7-9)ATTfs	p.I3fs	uc001hnr.1_Intron|FAM177B_uc009xeb.2_RNA	NM_207468	NP_997351	A6PVY3	F177B_HUMAN	hypothetical protein LOC400823	3										ovary(1)	1						CATTATGGAGATTGACGGTTTC	0.376													-	222919895	AT	-	222919894	7	5	74	1	0	1	0	1	0	0	0	0	5502	333	12	0	9	0	FAM177B	1	222919894	Frame_Shift_Del	DEL	AT	TCGA-BR-8361-01A-11D-2340-08	1040278	222919894	26330727	149	50420											
LIN9	286826	broad.mit.edu	37	chr1	226483628	226483628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcagaaaaaagtcgacttCgttttgaatttctgaaaggc	8	7	2	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:226483628C>T	uc001hqa.2	-	4	537	c.227G>A	c.(226-228)CGA>CAA	p.R76Q	LIN9_uc001hqb.2_Intron|LIN9_uc001hqc.2_Missense_Mutation_p.R8Q|LIN9_uc009xel.1_Intron	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	lin-9 homolog	60	Sufficient for interaction with RB1.				cell cycle|DNA replication	nucleoplasm					0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		AAGTCGACTTCGTTTTGAATT	0.348													T	226483628	C	T	226483628	3	4	74	1	0	0	0	0	1	0	0	0	8813	884	31	1	1497	1	LIN9	1	226483628	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3563734	226483628	22766993	150	50421											
C1orf35	79169	broad.mit.edu	37	chr1	228290071	228290071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcgggacatcgccacgcgGcccacggagccactgcaggg	14	16	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:228290071G>A	uc001hrx.2	-	5	481	c.387C>T	c.(385-387)GGC>GGT	p.G129G	C1orf35_uc009xew.2_RNA	NM_024319	NP_077295	Q9BU76	MMTA2_HUMAN	hypothetical protein LOC79169	129											0		Prostate(94;0.0488)				TCGCCACGCGGCCCACGGAGC	0.672													A	228290071	G	A	228290071	2	1	74	1	0	0	0	0	0	0	0	1	2038	1190	42	2		2	C1orf35	1	228290071	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1806443	228290071	20960550	151	50422											
MRPL55	128308	broad.mit.edu	37	chr1	228294543	228294543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgctcgtactccttcctcGactggagctgagcctcacgc	9	17	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:228294543G>A	uc001hry.2	-	3	1049	c.305C>T	c.(304-306)TCG>TTG	p.S102L	MRPL55_uc001hrz.3_Missense_Mutation_p.S138L|MRPL55_uc009xex.2_Missense_Mutation_p.S102L|MRPL55_uc001hsa.3_Missense_Mutation_p.S102L|MRPL55_uc001hsb.3_Missense_Mutation_p.S102L|MRPL55_uc001hsc.3_Missense_Mutation_p.S102L|MRPL55_uc001hsd.3_Missense_Mutation_p.S102L|MRPL55_uc001hse.3_Missense_Mutation_p.S102L|MRPL55_uc001hsf.3_Missense_Mutation_p.S102L|MRPL55_uc001hsg.3_Missense_Mutation_p.S102L	NM_181465	NP_852130	Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55 isoform a	102					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			central_nervous_system(1)	1		Prostate(94;0.0405)				CTCCTTCCTCGACTGGAGCTG	0.612													A	228294543	G	A	228294543	3	1	74	1	0	0	0	0	1	0	0	0	9819	1059	37	1	85	1	MRPL55	1	228294543	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	4472	228294543	20956078	152	50423											
GJC2	57165	broad.mit.edu	37	chr1	228345732	228345732	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcatctccacgccctcGgtcatgtacctgggctacgc	11	15	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:228345732G>A	uc001hsk.2	+	2	448	c.273G>A	c.(271-273)TCG>TCA	p.S91S		NM_020435	NP_065168	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	91	Helical; (Potential).				cell death	connexon complex|integral to membrane					0		Prostate(94;0.0405)				CCACGCCCTCGGTCATGTACC	0.507													A	228345732	G	A	228345732	2	1	74	1	0	0	0	0	0	0	0	1	6415	1103	39	1		1	GJC2	1	228345732	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	51189	228345732	20904889	153	50424											
GJC2	57165	broad.mit.edu	37	chr1	228346017	228346017	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcggtcggcgctgacggCaaggcggcagggaccccggg	20	12	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:228346017C>T	uc001hsk.2	+	2	733	c.558C>T	c.(556-558)GGC>GGT	p.G186G		NM_020435	NP_065168	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	186	Cytoplasmic (Potential).				cell death	connexon complex|integral to membrane					0		Prostate(94;0.0405)				GCGCTGACGGCAAGGCGGCAG	0.692													T	228346017	C	T	228346017	2	4	74	1	0	0	0	0	0	0	0	1	6415	697	25	2		2	GJC2	1	228346017	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	285	228346017	20904604	154	50425											
OBSCN	84033	broad.mit.edu	37	chr1	228509183	228509183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcagctgtgaagatccagGctgcctttaagggctacaag	13	9	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:228509183G>A	uc009xez.1	+	55	14685	c.14641G>A	c.(14641-14643)GCT>ACT	p.A4881T	OBSCN_uc001hsn.2_Missense_Mutation_p.A4881T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4881	IQ.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GAAGATCCAGGCTGCCTTTAA	0.602													A	228509183	G	A	228509183	3	1	74	1	0	0	0	0	1	0	0	0	10812	1203	42	2	14855	2	OBSCN	1	228509183	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	163166	228509183	20741438	155	50426											
NUP133	55746	broad.mit.edu	37	chr1	229635470	229635470	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaagtcttatcacctccCgaatctacaaaagcctctgt	5	13	4	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:229635470C>T	uc001htn.2	-	5	701	c.609G>A	c.(607-609)TCG>TCA	p.S203S		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	203					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TATCACCTCCCGAATCTACAA	0.433													T	229635470	C	T	229635470	2	4	74	1	0	0	0	0	0	0	0	1	10754	639	23	1		1	NUP133	1	229635470	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1126287	229635470	19615151	156	50427											
NUP133	55746	broad.mit.edu	37	chr1	229635528	229635528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggcttggccaatagcggAtagatccttctctggtggca	12	10	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:229635528A>G	uc001htn.2	-	5	643	c.551T>C	c.(550-552)ATC>ACC	p.I184T		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	184					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CCAATAGCGGATAGATCCTTC	0.453													G	229635528	A	G	229635528	3	3	74	1	0	0	0	0	1	0	0	0	10754	333	12	3	3007	3	NUP133	1	229635528	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	58	229635528	19615093	157	50428											
DISC1	27185	broad.mit.edu	37	chr1	231954073	231954073	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctcccacaacgtgctgtAggaaaccatttctggacggc	9	13	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:231954073A>G	uc001huz.2	+	9	1846	c.1793_splice	c.e9-2	p.G598_splice	TSNAX-DISC1_uc010pwg.1_Splice_Site_p.G587_splice|TSNAX-DISC1_uc010pwh.1_Splice_Site_p.G553_splice|TSNAX-DISC1_uc010pwi.1_Splice_Site_p.G553_splice|TSNAX-DISC1_uc010pwj.1_Splice_Site_p.G587_splice|TSNAX-DISC1_uc010pwk.1_Splice_Site_p.E553_splice|TSNAX-DISC1_uc010pwl.1_Splice_Site|DISC1_uc010pwr.1_Splice_Site_p.G598_splice|DISC1_uc010pws.1_Splice_Site_p.E564_splice|DISC1_uc010pwt.1_Splice_Site_p.R545_splice|DISC1_uc010pwu.1_Splice_Site_p.R195_splice|DISC1_uc010pwv.1_Splice_Site|DISC1_uc010pww.1_Splice_Site_p.G598_splice|DISC1_uc010pwx.1_Splice_Site|DISC1_uc010pwy.1_Splice_Site|DISC1_uc010pwz.1_Splice_Site|DISC1_uc010pxa.1_Splice_Site|DISC1_uc001huy.2_Splice_Site_p.G598_splice|DISC1_uc010pxb.1_Splice_Site_p.G598_splice|DISC1_uc010pxc.1_Intron|DISC1_uc010pxd.1_Splice_Site_p.G243_splice|DISC1_uc010pxe.1_Splice_Site_p.G598_splice|DISC1_uc009xfr.2_Splice_Site_p.G553_splice|DISC1_uc010pxf.1_Splice_Site_p.G598_splice|DISC1_uc010pxg.1_Intron|DISC1_uc010pxh.1_Splice_Site_p.G630_splice|DISC1_uc010pxi.1_Splice_Site|DISC1_uc010pxj.1_Splice_Site_p.G243_splice|DISC1_uc010pxk.1_Splice_Site|DISC1_uc010pxl.1_Splice_Site|DISC1_uc010pxm.1_Splice_Site_p.G476_splice|DISC1_uc010pxn.1_Splice_Site_p.G243_splice|DISC1_uc001hva.2_Splice_Site_p.G598_splice|DISC2_uc001hvd.2_RNA	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L						microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)				AACGTGCTGTAGGAAACCATT	0.478													G	231954073	A	G	231954073	5	3	74	1	0	0	0	0	0	0	1	0	4538	434	15	3	2198	3	DISC1	1	231954073	Splice_Site	SNP	A	TCGA-BR-8361-01A-11D-2340-08	2318545	231954073	17296548	158	50429											
LYST	1130	broad.mit.edu	37	chr1	235964220	235964221	+	Frame_Shift_Ins	INS	-	-	A													tttctgcctaataattttcaINSaaaaactctcaaatacatgg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:235964219_235964220C>CA	uc001hxj.2	-	8	4065_4066	c.3890_3891G>TG	c.(3889-3891)ttgfs	p.L1297fs	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Frame_Shift_Ins_p.L1297fs	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1297					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TAATAATTTTCAAAAAACTCTC	0.322													A	235964221	-	A	235964220	7	5	74	1	0	1	1	0	0	0	0	0	9128	131	5	0	7695	0	LYST	1	235964220	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	4010147	235964220	13286401	159	50430											
LYST	1130	broad.mit.edu	37	chr1	235966262	235966264	+	In_Frame_Del	DEL	CTT	CTT	-													ttcactatctgcttcgtaacCttcttcttcaactaaaagtt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:235966261_235966263CCTT>C	uc001hxj.2	-	7	3832_3834	c.3657_3659AAGG>G	c.(3655-3660)gaaggt>gaGt	p.G1220del	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_In_Frame_Del_p.G1220del	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1220					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGCTTCGTAACCTTCTTCTTCAA	0.394													-	235966264	CTT	-	235966262	7	5	74	1	0	1	0	1	0	0	0	0	9128	681	24	0	7931	0	LYST	1	235966262	In_Frame_Del	DEL	CTT	TCGA-BR-8361-01A-11D-2340-08	2042	235966262	13284359	160	50431											
NID1	4811	broad.mit.edu	37	chr1	236189268	236189268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttgtacaggacgaacaCgctgtccaccgagagctgct	12	12	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:236189268C>T	uc001hxo.2	-	8	2014	c.1912G>A	c.(1912-1914)GTG>ATG	p.V638M	NID1_uc009xgd.2_Missense_Mutation_p.V638M	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	638	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AGGACGAACACGCTGTCCACC	0.597													T	236189268	C	T	236189268	3	4	74	1	0	0	0	0	1	0	0	0	10414	536	19	1	1883	1	NID1	1	236189268	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	223006	236189268	13061353	161	50432											
MTR	4548	broad.mit.edu	37	chr1	237001790	237001790	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaagggaagtgcattgTcaatagcattagtctgaagg	12	7	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:237001790T>C	uc001hyi.3	+	15	1829	c.1406T>C	c.(1405-1407)GTC>GCC	p.V469A	MTR_uc010pxw.1_Missense_Mutation_p.V62A|MTR_uc010pxx.1_Missense_Mutation_p.V469A|MTR_uc010pxy.1_Missense_Mutation_p.V469A	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	469	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AAGTGCATTGTCAATAGCATT	0.443													C	237001790	T	C	237001790	3	2	74	1	0	0	0	0	1	0	0	0	9958	1667	58	3	1464	3	MTR	1	237001790	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	812522	237001790	12248831	162	50433											
RYR2	6262	broad.mit.edu	37	chr1	237919622	237919622	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaaaagcttctataccAgcaagcccgactccacgatc	6	14	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:237919622A>G	uc001hyl.1	+	81	11300	c.11180A>G	c.(11179-11181)CAG>CGG	p.Q3727R	RYR2_uc010pya.1_Missense_Mutation_p.Q142R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3727					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTCTATACCAGCAAGCCCGA	0.468													G	237919622	A	G	237919622	3	3	74	1	0	0	0	0	1	0	0	0	13769	188	7	3	11502	3	RYR2	1	237919622	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	917832	237919622	11330999	163	50434											
FMN2	56776	broad.mit.edu	37	chr1	240255580	240255580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggagggggcggcggcggCggcggggagtcgggcaagaa	27	7	0	1	rs72042337		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:240255580C>T	uc010pyd.1	+	1	396	c.171C>T	c.(169-171)GGC>GGT	p.G57G	FMN2_uc010pye.1_Silent_p.G57G	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	57					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			gcggcggcggcggcggggAGT	0.547													T	240255580	C	T	240255580	2	4	74	1	0	0	0	0	0	0	0	1	5950	755	27	1		1	FMN2	1	240255580	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2335958	240255580	8995041	164	50435											
WDR64	128025	broad.mit.edu	37	chr1	241850767	241850767	+	Frame_Shift_Del	DEL	A	A	-													ttttcttaatccccagtgttAaaaggaagctacataatgac							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:241850767delA	uc001hze.1	+	7	1021	c.814delA	c.(814-816)AAAfs	p.K272fs	WDR64_uc001hzf.1_5'UTR			B1ANS9	WDR64_HUMAN	RecName: Full=WD repeat-containing protein 64;	272										skin(1)	1	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CCCCAGTGTTAAAAGGAAGCT	0.328													-	241850767	A	-	241850767	7	5	74	1	0	1	0	1	0	0	0	0	17312	363	13	0	840	0	WDR64	1	241850767	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	1595187	241850767	7399854	165	50436											
SDCCAG8	10806	broad.mit.edu	37	chr1	243480061	243480061	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttttgtgctgacagagaaAgagatgacttgatgtctgca	11	6	1	5			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:243480061A>G	uc001hzw.2	+	9	1090	c.934A>G	c.(934-936)AGA>GGA	p.R312G	SDCCAG8_uc010pyk.1_Missense_Mutation_p.R167G|SDCCAG8_uc010pyl.1_Missense_Mutation_p.R124G|SDCCAG8_uc001hzx.2_Missense_Mutation_p.R124G	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	312	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding				0	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TGACAGAGAAAGAGATGACTT	0.398													G	243480061	A	G	243480061	3	3	74	1	0	0	0	0	1	0	0	0	13959	64	3	3	968	3	SDCCAG8	1	243480061	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1629294	243480061	5770560	166	50437											
KIF26B	55083	broad.mit.edu	37	chr1	245850088	245850088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgagcctggatgagaaggCccaggacgcagggagcagac	17	9	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:245850088C>T	uc001ibf.1	+	12	4243	c.3803C>T	c.(3802-3804)GCC>GTC	p.A1268V	KIF26B_uc001ibg.1_Missense_Mutation_p.A886V|KIF26B_uc001ibh.1_Missense_Mutation_p.A510V	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1268					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GATGAGAAGGCCCAGGACGCA	0.622													T	245850088	C	T	245850088	3	4	74	1	0	0	0	0	1	0	0	0	8295	739	26	2	3849	2	KIF26B	1	245850088	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2370027	245850088	3400533	167	50438											
OR2G2	81470	broad.mit.edu	37	chr1	247752385	247752385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggagacagaaagcattcGggacctgcttctcccacctg	10	14	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:247752385G>A	uc010pyy.1	+	1	724	c.724G>A	c.(724-726)GGG>AGG	p.G242R		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAAAGCATTCGGGACCTGCTT	0.403													A	247752385	G	A	247752385	3	1	74	1	0	0	0	0	1	0	0	0	10998	1116	39	1	726	1	OR2G2	1	247752385	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1902297	247752385	1498236	168	50439											
OR14C36	127066	broad.mit.edu	37	chr1	248512486	248512486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctgtgatcgtgaactctcGaatctgcatccagatgacac	8	13	2	4	rs142744958		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr1:248512486G>A	uc010pzl.1	+	1	410	c.410G>A	c.(409-411)CGA>CAA	p.R137Q		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C,	137	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GTGAACTCTCGAATCTGCATC	0.512													A	248512486	G	A	248512486	3	1	74	1	0	0	0	0	1	0	0	0	10946	1058	37	1	412	1	OR14C36	1	248512486	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	760101	248512486	738135	169	50440											
PXDN	7837	broad.mit.edu	37	chr2	1652304	1652304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggaagttctcgtccagcCggtaaagcagtgggttgaca	14	9	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:1652304C>T	uc002qxa.2	-	17	3312	c.3248G>A	c.(3247-3249)CGG>CAG	p.R1083Q		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1083					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTCGTCCAGCCGGTAAAGCAG	0.577													T	1652304	C	T	1652304	3	4	74	1	0	0	0	0	1	0	0	0	12847	652	23	1	1219	1	PXDN	2	1652304	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08		1652304	241547069	170	50441											
RNASEH1	246243	broad.mit.edu	37	chr2	3604479	3604479	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaaaccggtccacctgTgctctgcactcattcctgga	10	14	2	0	rs76089149		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:3604479T>C	uc002qxt.2	-	2	234	c.144A>G	c.(142-144)GCA>GCG	p.A48A	RNASEH1_uc002qxs.2_5'UTR|uc002qxu.2_5'Flank|uc002qxv.2_5'Flank	NM_002936	NP_002927	O60930	RNH1_HUMAN	ribonuclease H1	48					RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		GGTCCACCTGTGCTCTGCACT	0.438													C	3604479	T	C	3604479	2	2	74	1	0	0	0	0	0	0	0	1	13411	1683	59	3		3	RNASEH1	2	3604479	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	1952175	3604479	239594894	171	50442											
CMPK2	129607	broad.mit.edu	37	chr2	7001506	7001506	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgccactgactgggtcacCgtggttttacctgcaggtca	11	12	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:7001506C>T	uc002qyo.2	-	3	910	c.801G>A	c.(799-801)ACG>ACA	p.T267T	CMPK2_uc010yis.1_Silent_p.T267T|CMPK2_uc010ewv.2_Silent_p.T267T	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN	UMP-CMP kinase 2 precursor	267					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACTGGGTCACCGTGGTTTTAC	0.448													T	7001506	C	T	7001506	2	4	74	1	0	0	0	0	0	0	0	1	3581	639	23	1		1	CMPK2	2	7001506	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3397027	7001506	236197867	172	50443											
RNF144A	9781	broad.mit.edu	37	chr2	7179767	7179767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctttcttccaggttgtggGcatttttgcaggatttgggc	12	7	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:7179767G>A	uc002qys.2	+	9	1197	c.755G>A	c.(754-756)GGC>GAC	p.G252D	RNF144A_uc002qyt.2_Missense_Mutation_p.G101D	NM_014746	NP_055561	P50876	R144A_HUMAN	ring finger protein 144	252	Helical; (Potential).					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			ovary(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CAGGTTGTGGGCATTTTTGCA	0.483													A	7179767	G	A	7179767	3	1	74	1	0	0	0	0	1	0	0	0	13445	1203	42	2	781	2	RNF144A	2	7179767	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	178261	7179767	236019606	173	50444											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10908853	10908853	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccaaaacagcaactggcGcagatcgagatggacctgaa	10	11	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:10908853G>A	uc002ras.2	+	6	496	c.387G>A	c.(385-387)GCG>GCA	p.A129A	ATP6V1C2_uc002rat.2_Silent_p.A129A	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	vacuolar H+ ATPase C2 isoform a	129					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AGCAACTGGCGCAGATCGAGA	0.498													A	10908853	G	A	10908853	2	1	74	1	0	0	0	0	0	0	0	1	1181	1074	38	1		1	ATP6V1C2	2	10908853	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	3729086	10908853	232290520	174	50445											
GREB1	9687	broad.mit.edu	37	chr2	11750856	11750856	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgatcaggacctttgttctCgtgcagcactacgcggccgc	12	13	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:11750856C>T	uc002rbk.1	+	18	3009	c.2709C>T	c.(2707-2709)CTC>CTT	p.L903L	GREB1_uc002rbo.1_Silent_p.L537L|GREB1_uc002rbp.1_5'Flank	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	903						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCTTTGTTCTCGTGCAGCACT	0.637													T	11750856	C	T	11750856	2	4	74	1	0	0	0	0	0	0	0	1	6760	871	31	1		1	GREB1	2	11750856	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	842003	11750856	231448517	175	50446											
RAD51AP2	729475	broad.mit.edu	37	chr2	17699325	17699326	+	Frame_Shift_Ins	INS	-	-	G													tcagaatcaggactttgtgaINSggggggagactgcaaacagc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:17699325_17699326insG	uc002rcl.1	-	1	381_382	c.357_358insC	c.(355-360)CCCTCAfs	p.P119fs	RAD51AP2_uc010exn.1_Frame_Shift_Ins_p.P110fs	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	119_120										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGACTTTGTGAGGGGGGAGACT	0.48													G	17699326	-	G	17699325	7	5	74	1	0	1	1	0	0	0	0	0	12987	304	11	0	3133	0	RAD51AP2	2	17699325	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	5948469	17699325	225500048	176	50447	201	2									
RAD51AP2	729475	broad.mit.edu	37	chr2	17699326	17699327	+	Frame_Shift_Ins	INS	-	-	G													cagaatcaggactttgtgagINSgggggagactgcaaacagct							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:17699325_17699326A>AG	uc002rcl.1	-	0	381_382	c.357_358T>CT	c.(355-360)ccctcafs	p.P119fs	RAD51AP2_uc010exn.1_Frame_Shift_Ins_p.P110fs	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	119										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGACTTTGTGAGGGGGGAGACT	0.48													G	17699327	-	G	17699326	7	5	74	1	0	1	1	0	0	0	0	0	12987	987	35	0	3134	0	RAD51AP2	2	17699326	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1	17699326	225500047	177	50448	201	2									
MSGN1	343930	broad.mit.edu	37	chr2	17997882	17997882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggactggaaggacaggGcagggccctttgagctgaat	16	9	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:17997882G>A	uc010yjt.1	+	1	97	c.97G>A	c.(97-99)GCA>ACA	p.A33T		NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN	mesogenin 1	33					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAAGGACAGGGCAGGGCCCTT	0.612													A	17997882	G	A	17997882	3	1	74	1	0	0	0	0	1	0	0	0	9869	1203	42	2	99	2	MSGN1	2	17997882	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	298556	17997882	225201491	178	50449											
HS1BP3	64342	broad.mit.edu	37	chr2	20845118	20845118	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaagaactggacgacatcCtcgggcctgtgcttggccga	12	13	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:20845118C>A	uc002rdw.1	-	2	221	c.180G>T	c.(178-180)GAG>GAT	p.E60D	HS1BP3_uc002rdx.2_Missense_Mutation_p.E60D|HS1BP3_uc002rdy.2_Missense_Mutation_p.E60D	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	60	PX.				cell communication		phosphatidylinositol binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACGACATCCTCGGGCCTGT	0.632													A	20845118	C	A	20845118	3	1	74	1	0	0	0	0	1	0	0	0	7361	680	24	5	1022	5	HS1BP3	2	20845118	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2847236	20845118	222354255	179	50450											
DNMT3A	1788	broad.mit.edu	37	chr2	25523009	25523009	+	Frame_Shift_Del	DEL	G	G	-													tgtaggatgtgacactcaccGgggggtgcttgcgcttcctc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:25523009delG	uc002rgc.2	-	3	433	c.176delC	c.(175-177)CCGfs	p.P59fs	DNMT3A_uc002rgd.2_Frame_Shift_Del_p.P59fs|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rge.2_Frame_Shift_Del_p.P56fs|DNMT3A_uc002rgf.2_Frame_Shift_Del_p.P59fs	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	59					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACACTCACCGGGGGGTGCTT	0.647			Mis|F|N|S		AML								-	25523009	G	-	25523009	7	5	74	1	0	1	0	1	0	0	0	0	4676	1130	39	0	2779	0	DNMT3A	2	25523009	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	4677891	25523009	217676364	180	50451											
EPT1	85465	broad.mit.edu	37	chr2	26597961	26597961	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggagttgaggcctggtaTgaacctttcctgtttaattt	12	6	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:26597961T>C	uc010ykz.1	+	6	774	c.627T>C	c.(625-627)TAT>TAC	p.Y209Y	EPT1_uc010eyl.1_RNA	NM_033505	NP_277040	Q9C0D9	EPT1_HUMAN	selenoprotein I	209					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding				0						AGGCCTGGTATGAACCTTTCC	0.378													C	26597961	T	C	26597961	2	2	74	1	0	0	0	0	0	0	0	1	5199	1471	51	3		3	EPT1	2	26597961	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	1074952	26597961	216601412	181	50452											
KCNK3	3777	broad.mit.edu	37	chr2	26950927	26950927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacgtggccttcagcttcGtctacatccttacgggcctc	9	14	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:26950927G>A	uc002rhn.2	+	2	839	c.676G>A	c.(676-678)GTC>ATC	p.V226I		NM_002246	NP_002237	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	226	Helical; (Potential).				synaptic transmission	integral to plasma membrane				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCAGCTTCGTCTACATCCT	0.632													A	26950927	G	A	26950927	3	1	74	1	0	0	0	0	1	0	0	0	8067	1145	40	1	682	1	KCNK3	2	26950927	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	352966	26950927	216248446	182	50453											
AGBL5	60509	broad.mit.edu	37	chr2	27278901	27278901	+	Frame_Shift_Del	DEL	C	C	-													gagtcagcccctgataccatCccccccaaagagagtggcgt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:27278900_27278900TC>T	uc002rie.3	+	6	1476	c.1259_1259TC>T	c.(1258-1260)atcfs	p.I420fs	AGBL5_uc002rid.3_Frame_Shift_Del_p.I420fs|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	420					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGATACCATCCCCCCCAAA	0.517													-	27278901	C	-	27278901	7	5	74	1	0	1	0	1	0	0	0	0	378	845	30	0	1282	0	AGBL5	2	27278901	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	327974	27278901	215920472	183	50454											
SLC5A6	8884	broad.mit.edu	37	chr2	27424662	27424662	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgctggtcacgatgctcccGatgccaatccagaaggccat	10	13	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:27424662G>A	uc002rjd.2	-	14	1807	c.1416C>T	c.(1414-1416)ATC>ATT	p.I472I	SLC5A6_uc010eyv.1_Silent_p.I472I	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	472	Helical; (Potential).				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CGATGCTCCCGATGCCAATCC	0.617													A	27424662	G	A	27424662	2	1	74	1	0	0	0	0	0	0	0	1	14669	1048	37	1		1	SLC5A6	2	27424662	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	145761	27424662	215774711	184	50455											
IFT172	26160	broad.mit.edu	37	chr2	27683894	27683894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctagtacctttcatgaatgCgttgcctttacggtagcact	9	10	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:27683894C>T	uc002rku.2	-	23	2560	c.2509G>A	c.(2509-2511)GCA>ACA	p.A837T		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	837	TPR 3.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					TTCATGAATGCGTTGCCTTTA	0.428													T	27683894	C	T	27683894	3	4	74	1	0	0	0	0	1	0	0	0	7557	768	27	1	2844	1	IFT172	2	27683894	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	259232	27683894	215515479	185	50456											
ZNF512	84450	broad.mit.edu	37	chr2	27821012	27821012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactccttaagtggttcatcGtctgcatcttcgtgtgaacc	9	11	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:27821012G>A	uc002rla.2	+	3	255	c.168G>A	c.(166-168)TCG>TCA	p.S56S	ZNF512_uc010ylv.1_5'UTR|ZNF512_uc010ylw.1_Silent_p.S55S|ZNF512_uc002rlb.2_5'UTR|ZNF512_uc010ylx.1_5'UTR|ZNF512_uc002rlc.2_5'UTR|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_5'UTR	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	zinc finger protein 512	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					GTGGTTCATCGTCTGCATCTT	0.408													A	27821012	G	A	27821012	2	1	74	1	0	0	0	0	0	0	0	1	17953	1132	40	1		1	ZNF512	2	27821012	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	137118	27821012	215378361	186	50457											
CLIP4	79745	broad.mit.edu	37	chr2	29358489	29358489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacaacttgtgtgcaggtgCtgtgaagtgcctcttggagc	13	8	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:29358489C>T	uc002rmv.2	+	6	844	c.605C>T	c.(604-606)GCT>GTT	p.A202V	CLIP4_uc002rmu.2_Missense_Mutation_p.A202V|CLIP4_uc010ezm.1_Missense_Mutation_p.A202V|CLIP4_uc002rmw.2_RNA|CLIP4_uc010ymn.1_Missense_Mutation_p.A184V	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	202	ANK 3.									ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					TGTGCAGGTGCTGTGAAGTGC	0.353													T	29358489	C	T	29358489	3	4	74	1	0	0	0	0	1	0	0	0	3535	797	28	2	623	2	CLIP4	2	29358489	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1537477	29358489	213840884	187	50458											
ALK	238	broad.mit.edu	37	chr2	29446357	29446357	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcagggctctgcagctccatCtgcatggcttgcagctcctg	11	14	3	0	rs138178848		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:29446357C>T	uc002rmy.2	-	20	4117	c.3210G>A	c.(3208-3210)CAG>CAA	p.Q1070Q	ALK_uc010ymo.1_Silent_p.Q2Q	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	1070	Cytoplasmic (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCAGCTCCATCTGCATGGCTT	0.597			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				T	29446357	C	T	29446357	2	4	74	1	0	0	0	0	0	0	0	1	525	912	32	4		4	ALK	2	29446357	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	87868	29446357	213753016	188	50459											
LCLAT1	253558	broad.mit.edu	37	chr2	30682532	30682532	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaacccatggtcaattaaCgaggcagtttctagctactg	9	10	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:30682532C>T	uc002rnj.2	+	2	263	c.54C>T	c.(52-54)AAC>AAT	p.N18N	LCLAT1_uc010ymp.1_Intron|LCLAT1_uc002rnk.1_Silent_p.N18N|LCLAT1_uc002rnl.2_Intron|LCLAT1_uc010ymq.1_Translation_Start_Site	NM_182551	NP_872357	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1 isoform 1	18					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			ovary(2)	2						GGTCAATTAACGAGGCAGTTT	0.428													T	30682532	C	T	30682532	2	4	74	1	0	0	0	0	0	0	0	1	8677	535	19	1		1	LCLAT1	2	30682532	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1236175	30682532	212516841	189	50460											
NLRC4	58484	broad.mit.edu	37	chr2	32476259	32476259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtctgcttcctgattgtgCcaggtatatccaggagttga	11	8	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:32476259C>T	uc002roi.2	-	4	920	c.674G>A	c.(673-675)GGC>GAC	p.G225D	NLRC4_uc002roj.1_Missense_Mutation_p.G225D|NLRC4_uc010ezt.1_Intron	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	225	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CCTGATTGTGCCAGGTATATC	0.502													T	32476259	C	T	32476259	3	4	74	1	0	0	0	0	1	0	0	0	10469	739	26	2	2424	2	NLRC4	2	32476259	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1793727	32476259	210723114	190	50461											
LTBP1	4052	broad.mit.edu	37	chr2	33359928	33359928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaagtgacctgcaccaagGgcagctgtcagaacagctgt	12	10	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:33359928G>A	uc002ros.2	+	5	1102	c.1102G>A	c.(1102-1104)GGC>AGC	p.G368S	LTBP1_uc002rot.2_Missense_Mutation_p.G42S|LTBP1_uc002rou.2_Missense_Mutation_p.G42S|LTBP1_uc002rov.2_Missense_Mutation_p.G42S|LTBP1_uc010ymz.1_Missense_Mutation_p.G42S|LTBP1_uc010yna.1_Missense_Mutation_p.G42S	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	368					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGCACCAAGGGCAGCTGTCA	0.547													A	33359928	G	A	33359928	3	1	74	1	0	0	0	0	1	0	0	0	9073	1232	43	4	1175	4	LTBP1	2	33359928	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	883669	33359928	209839445	191	50462											
LTBP1	4052	broad.mit.edu	37	chr2	33488371	33488371	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcatatagtagtgattgaAaaaacatcacctcctgtgcc	6	11	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:33488371A>G	uc002ros.2	+	15	2532	c.2532A>G	c.(2530-2532)GAA>GAG	p.E844E	LTBP1_uc002rot.2_Silent_p.E518E|LTBP1_uc002rou.2_Silent_p.E517E|LTBP1_uc002rov.2_Silent_p.E464E|LTBP1_uc010ymz.1_Silent_p.E517E|LTBP1_uc010yna.1_Silent_p.E464E	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	843					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TAGTGATTGAAAAAACATCAC	0.413													G	33488371	A	G	33488371	2	3	74	1	0	0	0	0	0	0	0	1	9073	11	1	3		3	LTBP1	2	33488371	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	128443	33488371	209711002	192	50463											
CRIM1	51232	broad.mit.edu	37	chr2	36749409	36749409	+	Frame_Shift_Del	DEL	G	G	-													gtcctgcccttctgtatcctGtgaaagacctgtcttgagaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:36749408_36749408TG>T	uc002rpd.3	+	12	2446	c.2380_2380TG>T	c.(2380-2382)tgtfs	p.C794fs		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	794	VWFC 5.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TTCTGTATCCTGTGAAAGACC	0.458													-	36749409	G	-	36749409	7	5	74	1	0	1	0	1	0	0	0	0	3873	1377	48	0	2431	0	CRIM1	2	36749409	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	3261038	36749409	206449964	193	50464											
HEATR5B	54497	broad.mit.edu	37	chr2	37297376	37297376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatacgtgttacaaacctgCgtaactccaactctcacttc	4	14	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:37297376C>T	uc002rpp.1	-	7	1020	c.924G>A	c.(922-924)ACG>ACA	p.T308T		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	308							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				TACAAACCTGCGTAACTCCAA	0.294													T	37297376	C	T	37297376	2	4	74	1	0	0	0	0	0	0	0	1	7032	755	27	1		1	HEATR5B	2	37297376	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	547967	37297376	205901997	194	50465											
CEBPZ	10153	broad.mit.edu	37	chr2	37430154	37430155	+	Splice_Site	DEL	AA	AA	-													ttttcttttttcttggccctAaaaaaaattgtaagtctaca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:37430153_37430154TAA>T	uc002rpz.3	-	14	2915	c.2885_splice	c.e14-1	p.G962_splice	LOC100505876_uc002rpy.2_3'UTR|LOC100505876_uc002rpx.2_3'UTR	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	962					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTCTTGGCCCTAAAAAAAATTG	0.267													-	37430155	AA	-	37430154	8	5	74	1	0	1	0	1	0	0	1	0	3204	377	13	0		0	CEBPZ	2	37430154	Splice_Site	DEL	AA	TCGA-BR-8361-01A-11D-2340-08	132778	37430154	205769219	195	50466											
ZFP36L2	678	broad.mit.edu	37	chr2	43452512	43452512	+	Frame_Shift_Del	DEL	C	C	-													agttgatctgggagccgccgCcccccttctgctgctgctgc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:43452512delC	uc002rsv.3	-	2	722	c.431delG	c.(430-432)GGCfs	p.G144fs	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	zinc finger protein 36, C3H type-like 2	144	Poly-Gly.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGAGCCGCCGCCCCCCTTCTG	0.637													-	43452512	C	-	43452512	7	5	74	1	0	1	0	1	0	0	0	0	17644	739	26	0	1057	0	ZFP36L2	2	43452512	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	6022358	43452512	199746861	196	50467											
SRBD1	55133	broad.mit.edu	37	chr2	45778293	45778293	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaattatagctaatttgcaaCcatgtttataaccaggatcc	5	8	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:45778293C>G	uc002rus.2	-	12	1722	c.1646G>C	c.(1645-1647)GGT>GCT	p.G549A	SRBD1_uc010yoc.1_Missense_Mutation_p.G68A	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	549					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TAATTTGCAACCATGTTTATA	0.388													G	45778293	C	G	45778293	3	3	74	1	0	0	0	0	1	0	0	0	15132	507	18	5	1381	5	SRBD1	2	45778293	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2325781	45778293	197421080	197	50468											
SRBD1	55133	broad.mit.edu	37	chr2	45801772	45801772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagagatactcacaagttcCgaatgaagtcaagcgtgtct	9	8	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:45801772C>T	uc002rus.2	-	8	1239	c.1163G>A	c.(1162-1164)CGG>CAG	p.R388Q		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	388					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TCACAAGTTCCGAATGAAGTC	0.378													T	45801772	C	T	45801772	3	4	74	1	0	0	0	0	1	0	0	0	15132	652	23	1	1880	1	SRBD1	2	45801772	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	23479	45801772	197397601	198	50469											
EPAS1	2034	broad.mit.edu	37	chr2	46607459	46607459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccatctgccccgaggagCggctcttggcggagaaccca	13	16	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:46607459C>T	uc002ruv.2	+	12	2136	c.1648C>T	c.(1648-1650)CGG>TGG	p.R550W	EPAS1_uc002ruw.2_Missense_Mutation_p.R16W	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	550					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CCCCGAGGAGCGGCTCTTGGC	0.602													T	46607459	C	T	46607459	3	4	74	1	0	0	0	0	1	0	0	0	5150	759	27	1	1694	1	EPAS1	2	46607459	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	805687	46607459	196591914	199	50470											
FSHR	2492	broad.mit.edu	37	chr2	49216165	49216165	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaatttctttcaattgTgtggatgtttatgttatctt	8	3	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:49216165T>A	uc002rww.2	-	6	549	c.475A>T	c.(475-477)ACA>TCA	p.T159S	FSHR_uc002rwx.2_Missense_Mutation_p.T159S|FSHR_uc010fbn.2_Intron|FSHR_uc010fbo.1_RNA	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	159	LRR 5.|Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CTTTCAATTGTGTGGATGTTT	0.328									Gonadal_Dysgenesis_46_XX				A	49216165	T	A	49216165	3	1	74	1	0	0	0	0	1	0	0	0	6073	1696	59	5	1632	5	FSHR	2	49216165	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	2608706	49216165	193983208	200	50471											
ERLEC1	27248	broad.mit.edu	37	chr2	54042070	54042070	+	Frame_Shift_Del	DEL	G	G	-													actcctgtcaatatattcttGgggtaagttaaaaagaaaat							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:54042069_54042069TG>T	uc002rxl.3	+	12	1657	c.1377_1377TG>T	c.(1375-1377)cttfs	p.L459fs	GPR75-ASB3_uc002rxi.4_Intron|ERLEC1_uc002rxm.3_Frame_Shift_Del_p.L433fs|ERLEC1_uc002rxn.3_Frame_Shift_Del_p.L405fs	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	Homo sapiens endoplasmic reticulum lectin 1 (ERLEC1), transcript variant 1, mRNA.	459					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	p.I458I(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						AATATATTCTTGGGGTAAGTT	0.299													-	54042070	G	-	54042070	7	5	74	1	0	1	0	1	0	0	0	0	5231	1348	47	0	1428	0	ERLEC1	2	54042070	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	4825905	54042070	189157303	201	50472											
PSME4	23198	broad.mit.edu	37	chr2	54128645	54128645	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatacagtcccaatcatgaaGgtttgccaagcacacaccac	6	13	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:54128645G>T	uc002rxp.2	-	28	3183	c.3127C>A	c.(3127-3129)CTT>ATT	p.L1043I	PSME4_uc010yop.1_Missense_Mutation_p.L929I|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.L418I|PSME4_uc010fbv.1_Missense_Mutation_p.L187I	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1043					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CAATCATGAAGGTTTGCCAAG	0.428													T	54128645	G	T	54128645	3	4	74	1	0	0	0	0	1	0	0	0	12709	1000	35	5	2480	5	PSME4	2	54128645	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	86575	54128645	189070728	202	50473											
USP34	9736	broad.mit.edu	37	chr2	61508272	61508272	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaaatttcaataatgTtgaggcagccaatagcagaa	10	5	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:61508272T>C	uc002sbe.2	-	38	5126	c.5104A>G	c.(5104-5106)ACA>GCA	p.T1702A	USP34_uc002sbf.2_5'Flank	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	1702					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			TTCAATAATGTTGAGGCAGCC	0.393													C	61508272	T	C	61508272	3	2	74	1	0	0	0	0	1	0	0	0	17062	1725	60	3	5708	3	USP34	2	61508272	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	7379627	61508272	181691101	203	50474											
USP34	9736	broad.mit.edu	37	chr2	61515896	61515896	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaggttcttttcctatgGctttccgctataccagacca	8	13	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:61515896G>A	uc002sbe.2	-	34	4687	c.4665C>T	c.(4663-4665)AGC>AGT	p.S1555S		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	1555					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			TTTTCCTATGGCTTTCCGCTA	0.433													A	61515896	G	A	61515896	2	1	74	1	0	0	0	0	0	0	0	1	17062	1194	42	2		2	USP34	2	61515896	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	7624	61515896	181683477	204	50475											
USP34	9736	broad.mit.edu	37	chr2	61577527	61577527	+	Splice_Site	DEL	A	A	-													ggatgccaagtacagtgtctAaaaaaaagagggagagattt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:61577526_61577526TA>T	uc002sbe.3	-	12	1400	c.1378_splice	c.e12-1	p.T460_splice		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	460					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTACAGTGTCTAAAAAAAAGA	0.338													-	61577527	A	-	61577527	8	5	74	1	0	1	0	1	0	0	1	0	17062	377	13	0		0	USP34	2	61577527	Splice_Site	DEL	A	TCGA-BR-8361-01A-11D-2340-08	61631	61577527	181621846	205	50476											
APLF	200558	broad.mit.edu	37	chr2	68765314	68765314	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctacaaggttctgaaggaaAcaaggtcaagaggacatcct	10	8	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:68765314A>G	uc002sep.2	+	7	1288	c.1115A>G	c.(1114-1116)AAC>AGC	p.N372S	APLF_uc002seq.1_RNA|APLF_uc010fdf.2_Missense_Mutation_p.N348S|APLF_uc002ser.1_Missense_Mutation_p.N103S	NM_173545	NP_775816	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	372					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			ovary(2)	2						TCTGAAGGAAACAAGGTCAAG	0.403													G	68765314	A	G	68765314	3	3	74	1	0	0	0	0	1	0	0	0	776	43	2	3	1141	3	APLF	2	68765314	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	7187787	68765314	174434059	206	50477											
SNRNP27	11017	broad.mit.edu	37	chr2	70131385	70131385	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattttctcttctcatcataGgcagtacatgaatcgaaaag	6	8	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:70131385G>A	uc002sfw.2	+	6	441	c.414_splice	c.e6-1	p.R138_splice	SNRNP27_uc002sfv.2_Splice_Site|SNRNP27_uc002sfx.2_Splice_Site_p.A117_splice	NM_006857	NP_006848	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa						mRNA processing|RNA splicing	nucleus	nucleic acid binding				0						TCTCATCATAGGCAGTACATG	0.318													A	70131385	G	A	70131385	5	1	74	1	0	0	0	0	0	0	1	0	14854	1014	35	4	435	4	SNRNP27	2	70131385	Splice_Site	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1366071	70131385	173067988	207	50478											
MXD1	4084	broad.mit.edu	37	chr2	70164405	70164405	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaaaagccgttcaccaaatCgaccagcttcagcgagagca	9	12	2	2	rs141349752	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:70164405C>T	uc002sfy.2	+	5	617	c.357C>T	c.(355-357)ATC>ATT	p.I119I	MXD1_uc010yqp.1_Silent_p.I119I|MXD1_uc010yqq.1_Silent_p.I56I|MXD1_uc010yqr.1_RNA|MXD1_uc010yqs.1_Silent_p.I109I	NM_002357	NP_002348	Q05195	MAD1_HUMAN	MAX dimerization protein 1	119					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						TTCACCAAATCGACCAGCTTC	0.557													T	70164405	C	T	70164405	2	4	74	1	0	0	0	0	0	0	0	1	9999	874	31	1		1	MXD1	2	70164405	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	33020	70164405	173034968	208	50479											
C2orf42	54980	broad.mit.edu	37	chr2	70402837	70402837	+	Frame_Shift_Del	DEL	T	T	-													acgaggaagcaaccacaggcTttttcaggccacttttcctt					rs140054933		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:70402837delT	uc002sgh.2	-	5	1335	c.1007delA	c.(1006-1008)AAGfs	p.K336fs		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	336											0						AACCACAGGCTTTTTCAGGCC	0.438													-	70402837	T	-	70402837	7	5	74	1	0	1	0	1	0	0	0	0	2166	1609	56	0	741	0	C2orf42	2	70402837	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	238432	70402837	172796536	209	50480											
ZNF638	27332	broad.mit.edu	37	chr2	71633328	71633328	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagatggacttcagtgtgTactttgtgttggacttcagt	13	5	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:71633328T>C	uc002shx.2	+	19	3390	c.3071T>C	c.(3070-3072)GTA>GCA	p.V1024A	ZNF638_uc010yqw.1_Missense_Mutation_p.V603A|ZNF638_uc002shy.2_Missense_Mutation_p.V1024A|ZNF638_uc002shz.2_Missense_Mutation_p.V1024A|ZNF638_uc002sia.2_Missense_Mutation_p.V1024A|ZNF638_uc002sib.1_Missense_Mutation_p.V1024A|ZNF638_uc010fed.2_RNA|ZNF638_uc002sic.2_Missense_Mutation_p.V121A	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	1024					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						CTTCAGTGTGTACTTTGTGTT	0.338													C	71633328	T	C	71633328	3	2	74	1	0	0	0	0	1	0	0	0	18052	1638	57	3	3141	3	ZNF638	2	71633328	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	1230491	71633328	171566045	210	50481											
INO80B	83444	broad.mit.edu	37	chr2	74683252	74683252	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagacagtaatctctctccCtctccacttcgggacctatc	6	15	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:74683252C>A	uc002slg.2	+	4	438	c.393C>A	c.(391-393)CCC>CCA	p.P131P	INO80B_uc002slf.1_Silent_p.P118P|INO80B_uc010yrr.1_Intron|WBP1_uc002slh.1_RNA|INO80B_uc002sli.1_RNA|INO80B_uc010yrs.1_Silent_p.P149P|WBP1_uc002slj.1_5'Flank|WBP1_uc002slk.1_5'Flank|WBP1_uc002sll.1_5'Flank	NM_031288	NP_112578	Q9C086	IN80B_HUMAN	high mobility group AT-hook 1-like 4	131					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			pancreas(1)	1						ATCTCTCTCCCTCTCCACTTC	0.512													A	74683252	C	A	74683252	2	1	74	1	0	0	0	0	0	0	0	1	7747	668	24	5		5	INO80B	2	74683252	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3049924	74683252	168516121	211	50482											
IMMT	10989	broad.mit.edu	37	chr2	86386713	86386713	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaagtttaccctctgcAgcagttatatgaggcttggc	11	8	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:86386713A>G	uc002sqz.3	-	9	1366	c.978T>C	c.(976-978)GCT>GCC	p.A326A	IMMT_uc002sqy.3_Silent_p.A67A|IMMT_uc002srb.3_Silent_p.A315A|IMMT_uc002sra.3_Silent_p.A325A|IMMT_uc010ytd.1_Silent_p.A314A|IMMT_uc010yte.1_Silent_p.A279A|IMMT_uc002src.1_Silent_p.A67A|IMMT_uc002srd.2_Silent_p.A326A|IMMT_uc002sre.3_Silent_p.A314A|IMMT_uc010ytf.1_Silent_p.A248A|IMMT_uc010fgs.1_Silent_p.A323A	NM_006839	NP_006830	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial isoform 1	326	Mitochondrial intermembrane (Potential).					integral to mitochondrial inner membrane	protein binding			skin(1)	1						TACCCTCTGCAGCAGTTATAT	0.338													G	86386713	A	G	86386713	2	3	74	1	0	0	0	0	0	0	0	1	7718	175	7	3		3	IMMT	2	86386713	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	11703461	86386713	156812660	212	50483											
THNSL2	55258	broad.mit.edu	37	chr2	88474159	88474159	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccccactaccctcacagaTctgatcgaccgagccttcag	6	18	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:88474159T>C	uc002ssz.3	+	3	378	c.225T>C	c.(223-225)GAT>GAC	p.D75D	THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_Silent_p.D75D|THNSL2_uc002ssx.3_Silent_p.D43D|THNSL2_uc002sta.3_Intron|THNSL2_uc002ssy.3_Silent_p.D75D|THNSL2_uc010fhe.2_5'UTR	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2	75					threonine biosynthetic process		threonine synthase activity			ovary(1)	1						CCCTCACAGATCTGATCGACC	0.517													C	88474159	T	C	88474159	2	2	74	1	0	0	0	0	0	0	0	1	15860	1449	50	3		3	THNSL2	2	88474159	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	2087446	88474159	154725214	213	50484											
MRPS5	64969	broad.mit.edu	37	chr2	95766226	95766226	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttttaaagttacctttgggTtgtttcttcatcttgatatg	8	5	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:95766226T>C	uc002sub.2	-	10	1142	c.924A>G	c.(922-924)CAA>CAG	p.Q308Q	MRPS5_uc002suc.2_RNA	NM_031902	NP_114108	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	308					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			ovary(2)|central_nervous_system(1)	3						TACCTTTGGGTTGTTTCTTCA	0.323													C	95766226	T	C	95766226	2	2	74	1	0	0	0	0	0	0	0	1	9846	1722	60	3		3	MRPS5	2	95766226	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	7292067	95766226	147433147	214	50485											
ADRA2B	151	broad.mit.edu	37	chr2	96780880	96780880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaggagcacctggccacGtagggtggccagcacccggg	16	15	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:96780880G>A	uc002svi.2	-	3	1018	c.1018C>T	c.(1018-1020)CGT>TGT	p.R340C		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	340	Cytoplasmic (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	ACCTGGCCACGTAGGGTGGCC	0.662													A	96780880	G	A	96780880	3	1	74	1	0	0	0	0	1	0	0	0	338	1145	40	1	338	1	ADRA2B	2	96780880	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1014654	96780880	146418493	215	50486											
ZAP70	7535	broad.mit.edu	37	chr2	98349407	98349407	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatctatgggaagacggtgTaccactacctcatcagccaa	8	12	4	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:98349407T>C	uc002syd.1	+	5	832	c.625T>C	c.(625-627)TAC>CAC	p.Y209H	ZAP70_uc010yvf.1_Missense_Mutation_p.Y209H|ZAP70_uc002sye.1_Missense_Mutation_p.Y99H|ZAP70_uc002syf.1_5'Flank	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	209	SH2 2.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						GAAGACGGTGTACCACTACCT	0.602													C	98349407	T	C	98349407	3	2	74	1	0	0	0	0	1	0	0	0	17511	1638	57	3	635	3	ZAP70	2	98349407	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	1568527	98349407	144849966	216	50487											
TMEM131	23505	broad.mit.edu	37	chr2	98377288	98377288	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtagccagccgtgactgcaGcaaaagtggggttgccgttc	14	11	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:98377288G>T	uc002syh.3	-	37	5208	c.4979C>A	c.(4978-4980)GCT>GAT	p.A1660D	TMEM131_uc002syg.2_Missense_Mutation_p.A40D	NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1660						integral to membrane				ovary(4)|central_nervous_system(2)	6						CGTGACTGCAGCAAAAGTGGG	0.542													T	98377288	G	T	98377288	3	4	74	1	0	0	0	0	1	0	0	0	16041	971	34	5	692	5	TMEM131	2	98377288	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	27881	98377288	144822085	217	50488											
INPP4A	3631	broad.mit.edu	37	chr2	99170738	99170738	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgtgcacctgcagacacGgcagctggtcacggtctgcg	14	12	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:99170738G>T	uc002syy.2	+	16	1760	c.1367G>T	c.(1366-1368)CGG>CTG	p.R456L	INPP4A_uc010yvj.1_Missense_Mutation_p.R456L|INPP4A_uc010yvk.1_Missense_Mutation_p.R456L|INPP4A_uc002syx.2_Missense_Mutation_p.R451L|INPP4A_uc010fik.2_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type 1	456					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			kidney(1)	1						CTGCAGACACGGCAGCTGGTC	0.612													T	99170738	G	T	99170738	3	4	74	1	0	0	0	0	1	0	0	0	7752	1116	39	5	1421	5	INPP4A	2	99170738	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	793450	99170738	144028635	218	50489											
CHST10	9486	broad.mit.edu	37	chr2	101009849	101009849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttatacacggtaatgcccGgagggatagtcgggtatgac	14	7	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:101009849G>A	uc002tam.2	-	7	1288	c.929C>T	c.(928-930)CCG>CTG	p.P310L		NM_004854	NP_004845	O43529	CHSTA_HUMAN	HNK-1 sulfotransferase	310	Lumenal (Potential).				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				ovary(1)	1						GGTAATGCCCGGAGGGATAGT	0.527													A	101009849	G	A	101009849	3	1	74	1	0	0	0	0	1	0	0	0	3398	1116	39	1	145	1	CHST10	2	101009849	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1839111	101009849	142189524	219	50490											
RNF149	284996	broad.mit.edu	37	chr2	101924856	101924856	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccttgggcgagctgtcGccgaagcggccactctccga	12	17	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:101924856G>A	uc002taz.1	-	1	297	c.195C>T	c.(193-195)GGC>GGT	p.G65G	RNF149_uc002tax.1_RNA	NM_173647	NP_775918	Q8NC42	RN149_HUMAN	ring finger protein 149 precursor	65						integral to membrane	ligase activity|zinc ion binding			ovary(1)|breast(1)	2						GCGAGCTGTCGCCGAAGCGGC	0.672													A	101924856	G	A	101924856	2	1	74	1	0	0	0	0	0	0	0	1	13450	1074	38	1		1	RNF149	2	101924856	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	915007	101924856	141274517	220	50491											
GPR45	11250	broad.mit.edu	37	chr2	105858508	105858508	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtaccagaggccggctAtgcgctcggccatcaacctg	12	14	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:105858508A>G	uc002tco.1	+	1	309	c.193A>G	c.(193-195)ATG>GTG	p.M65V		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	65	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						GAGGCCGGCTATGCGCTCGGC	0.612													G	105858508	A	G	105858508	3	3	74	1	0	0	0	0	1	0	0	0	6696	449	16	3	195	3	GPR45	2	105858508	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	3933652	105858508	137340865	221	50492											
GPR45	11250	broad.mit.edu	37	chr2	105859310	105859310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagaatcaaaaaattccGcgaggcctgcatagagttgc	11	9	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:105859310G>A	uc002tco.1	+	1	1111	c.995G>A	c.(994-996)CGC>CAC	p.R332H		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	332	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						AAAAAATTCCGCGAGGCCTGC	0.557													A	105859310	G	A	105859310	3	1	74	1	0	0	0	0	1	0	0	0	6696	1087	38	1	997	1	GPR45	2	105859310	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	802	105859310	137340063	222	50493											
ST6GAL2	84620	broad.mit.edu	37	chr2	107459646	107459646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctcggtgccgtccagcGtccgcacgcgcgcgcggctc	15	19	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:107459646G>A	uc002tdq.2	-	2	907	c.788C>T	c.(787-789)ACG>ATG	p.T263M	ST6GAL2_uc002tdr.2_Missense_Mutation_p.T263M|ST6GAL2_uc002tds.3_Missense_Mutation_p.T263M	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	263	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.T263T(1)		pancreas(6)|ovary(4)|skin(1)	11						GCCGTCCAGCGTCCGCACGCG	0.766													A	107459646	G	A	107459646	3	1	74	1	0	0	0	0	1	0	0	0	15221	1145	40	1	908	1	ST6GAL2	2	107459646	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1600336	107459646	135739727	223	50494											
RANBP2	5903	broad.mit.edu	37	chr2	109389034	109389034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccttggaagaaaatacaGcaggtatgttaagtgtaaag	11	5	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:109389034G>A	uc002tem.3	+	22	8236	c.8110G>A	c.(8110-8112)GCA>ACA	p.A2704T		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	2704	Required for E3 SUMO-ligase activity.|Interaction with SUMO1.|2 X 50 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						AGAAAATACAGCAGGTATGTT	0.299													A	109389034	G	A	109389034	3	1	74	1	0	0	0	0	1	0	0	0	13028	971	34	2	8196	2	RANBP2	2	109389034	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1929388	109389034	133810339	224	50495											
IL1F10	84639	broad.mit.edu	37	chr2	113832828	113832828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcaggcttgaggctgctGcctggcctggctggttcctg	14	13	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:113832828G>A	uc002tiu.2	+	5	421	c.346G>A	c.(346-348)GCC>ACC	p.A116T	IL1F10_uc002tiv.2_Missense_Mutation_p.A116T|IL1F10_uc002tiw.2_Missense_Mutation_p.A108T	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10	116						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			ovary(1)	1						TGAGGCTGCTGCCTGGCCTGG	0.582													A	113832828	G	A	113832828	3	1	74	1	0	0	0	0	1	0	0	0	7652	1319	46	2	360	2	IL1F10	2	113832828	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	4443794	113832828	129366545	225	50496											
INHBB	3625	broad.mit.edu	37	chr2	121104098	121104098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccctgcgcaagctgcacGcgggcaaggtgcgcgaggac	17	14	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:121104098G>A	uc002tmn.2	+	1	380	c.334G>A	c.(334-336)GCG>ACG	p.A112T		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	112					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)				CAAGCTGCACGCGGGCAAGGT	0.711													A	121104098	G	A	121104098	3	1	74	1	0	0	0	0	1	0	0	0	7742	1087	38	1	336	1	INHBB	2	121104098	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	7271270	121104098	122095275	226	50497											
CNTNAP5	129684	broad.mit.edu	37	chr2	125504943	125504943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcagcacttttgcaattgcGacgctgacaaggatgaatgg	11	8	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:125504943G>A	uc002tno.2	+	14	2576	c.2212G>A	c.(2212-2214)GAC>AAC	p.D738N	CNTNAP5_uc010flu.2_Missense_Mutation_p.D739N	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	738	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTGCAATTGCGACGCTGACAA	0.478													A	125504943	G	A	125504943	3	1	74	1	0	0	0	0	1	0	0	0	3650	1058	37	1	2266	1	CNTNAP5	2	125504943	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	4400845	125504943	117694430	227	50498											
ERCC3	2071	broad.mit.edu	37	chr2	128044555	128044555	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagacagcgttttctgacagTgcatgcagcagtcacaccaa	9	12	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:128044555T>C	uc002toh.1	-	8	1161	c.1066A>G	c.(1066-1068)ACT>GCT	p.T356A	ERCC3_uc002toe.1_Missense_Mutation_p.T111A|ERCC3_uc002tof.1_Missense_Mutation_p.T292A|ERCC3_uc002tog.1_Missense_Mutation_p.T292A|ERCC3_uc010flx.1_Missense_Mutation_p.T111A	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	356	Helicase ATP-binding.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TTTCTGACAGTGCATGCAGCA	0.527			Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				C	128044555	T	C	128044555	3	2	74	1	0	0	0	0	1	0	0	0	5214	1696	59	3	1314	3	ERCC3	2	128044555	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	2539612	128044555	115154818	228	50499											
WDR33	55339	broad.mit.edu	37	chr2	128471514	128471514	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaggccccctctcgggcCcatgctcaggcccgccgctc	12	19	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:128471514C>A	uc002tpg.1	-	18	3134	c.2951G>T	c.(2950-2952)GGG>GTG	p.G984V		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	984					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CCTCTCGGGCCCATGCTCAGG	0.642													A	128471514	C	A	128471514	3	1	74	1	0	0	0	0	1	0	0	0	17284	623	22	5	1079	5	WDR33	2	128471514	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	426959	128471514	114727859	229	50500											
POTEE	445582	broad.mit.edu	37	chr2	132021676	132021676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctagacctggctgggcGggaactgcctgactacctca	13	14	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:132021676G>A	uc002tsn.2	+	15	2700	c.2648G>A	c.(2647-2649)CGG>CAG	p.R883Q	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.R483Q|POTEE_uc002tsl.2_Missense_Mutation_p.R465Q|POTEE_uc010fmy.1_Missense_Mutation_p.R347Q	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	883	Actin-like.						ATP binding				0						CTGGCTGGGCGGGAACTGCCT	0.602													A	132021676	G	A	132021676	3	1	74	1	0	0	0	0	1	0	0	0	12264	1116	39	1	2706	1	POTEE	2	132021676	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	3550162	132021676	111177697	230	50501											
TUBA3D	113457	broad.mit.edu	37	chr2	132238309	132238309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtttgtggattggtgccCgactggatttaaggtatgac	13	7	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:132238309C>T	uc002tsu.3	+	4	1150	c.1043C>T	c.(1042-1044)CCG>CTG	p.P348L		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	348					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(221;0.13)		GATTGGTGCCCGACTGGATTT	0.552													T	132238309	C	T	132238309	3	4	74	1	0	0	0	0	1	0	0	0	16744	652	23	1	1057	1	TUBA3D	2	132238309	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	216633	132238309	110961064	231	50502											
LCT	3938	broad.mit.edu	37	chr2	136567017	136567017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggccttcaccttcaaagctCggagcatattcagatcggca	9	12	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:136567017C>T	uc002tuu.1	-	8	2911	c.2900G>A	c.(2899-2901)CGA>CAA	p.R967Q		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	967	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTTCAAAGCTCGGAGCATATT	0.493													T	136567017	C	T	136567017	3	4	74	1	0	0	0	0	1	0	0	0	8693	884	31	1	2923	1	LCT	2	136567017	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	4328708	136567017	106632356	232	50503											
THSD7B	80731	broad.mit.edu	37	chr2	137990635	137990635	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaatggagaagccacgtgTggtgtaggcattcagactcg	15	7	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:137990635T>C	uc002tva.1	+	8	1989	c.1989T>C	c.(1987-1989)TGT>TGC	p.C663C	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.C553C	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		AAGCCACGTGTGGTGTAGGCA	0.478													C	137990635	T	C	137990635	2	2	74	1	0	0	0	0	0	0	0	1	15877	1702	59	3		3	THSD7B	2	137990635	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	1423618	137990635	105208738	233	50504											
LRP1B	53353	broad.mit.edu	37	chr2	141079561	141079561	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatcattgcaggtgccaTtaatcaaatattttccttct	5	9	4	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:141079561T>C	uc002tvj.1	-	82	13583	c.12611A>G	c.(12610-12612)AAT>AGT	p.N4204S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4204	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCAGGTGCCATTAATCAAATA	0.383										TSP Lung(27;0.18)			C	141079561	T	C	141079561	3	2	74	1	0	0	0	0	1	0	0	0	8955	1493	52	3	1228	3	LRP1B	2	141079561	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	3088926	141079561	102119812	234	50505											
LRP1B	53353	broad.mit.edu	37	chr2	141457908	141457908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaaaagattcggttggtaCcttttcttctttgattatag	8	5	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:141457908C>T	uc002tvj.1	-	41	7682	c.6710G>A	c.(6709-6711)GGT>GAT	p.G2237D		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2237	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCGGTTGGTACCTTTTCTTCT	0.348										TSP Lung(27;0.18)			T	141457908	C	T	141457908	3	4	74	1	0	0	0	0	1	0	0	0	8955	507	18	4	7293	4	LRP1B	2	141457908	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	378347	141457908	101741465	235	50506											
LRP1B	53353	broad.mit.edu	37	chr2	141609279	141609279	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgggggcacgcacaggcagcActcctattgtgattgattag	13	9	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:141609279A>T	uc002tvj.1	-	28	5625	c.4653T>A	c.(4651-4653)AGT>AGA	p.S1551R	LRP1B_uc010fnl.1_Missense_Mutation_p.S733R	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1551	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACAGGCAGCACTCCTATTGT	0.413										TSP Lung(27;0.18)			T	141609279	A	T	141609279	3	4	74	1	0	0	0	0	1	0	0	0	8955	156	6	5	9402	5	LRP1B	2	141609279	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	151371	141609279	101590094	236	50507											
KYNU	8942	broad.mit.edu	37	chr2	143685243	143685243	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagagcagcctatggtcaTgaagtggggaagcgtccttg	14	8	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:143685243T>C	uc002tvl.2	+	4	436	c.306T>C	c.(304-306)CAT>CAC	p.H102H	KYNU_uc002tvk.2_Silent_p.H102H|KYNU_uc010fnm.2_Silent_p.H102H	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	102					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CCTATGGTCATGAAGTGGGGA	0.368													C	143685243	T	C	143685243	2	2	74	1	0	0	0	0	0	0	0	1	8587	1461	51	3		3	KYNU	2	143685243	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	2075964	143685243	99514130	237	50508											
GTDC1	79712	broad.mit.edu	37	chr2	144903180	144903180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatattggaaatccctctcCtgacatttcttgacaggata	6	11	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:144903180C>T	uc002tvp.2	-	5	585	c.306G>A	c.(304-306)CAG>CAA	p.Q102Q	GTDC1_uc002tvo.2_Silent_p.Q102Q|GTDC1_uc002tvq.2_Silent_p.Q102Q|GTDC1_uc002tvr.2_Silent_p.Q102Q|GTDC1_uc010fnn.2_Silent_p.Q102Q|GTDC1_uc002tvs.2_Silent_p.Q70Q|GTDC1_uc010fno.2_5'UTR|GTDC1_uc002tvt.1_Silent_p.Q102Q	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	102					biosynthetic process		transferase activity, transferring glycosyl groups			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0914)		AATCCCTCTCCTGACATTTCT	0.413													T	144903180	C	T	144903180	2	4	74	1	0	0	0	0	0	0	0	1	6851	680	24	4		4	GTDC1	2	144903180	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1217937	144903180	98296193	238	50509											
KIF5C	3800	broad.mit.edu	37	chr2	149861973	149861974	+	Frame_Shift_Ins	INS	-	-	A													ggatctgaccacccgagttaINSaaaaagtgagttctctttgt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:149861972_149861973T>TA	uc010zbu.2	+	21	2834_2835	c.2439_2440T>TA	c.(2437-2442)gttaaafs	p.V813fs	KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twu.1_Frame_Shift_Ins_p.V95fs	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	813					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CCACCCGAGTTAAAAAAGTGAG	0.426													A	149861974	-	A	149861973	7	5	74	1	0	1	1	0	0	0	0	0	8307	363	13	0	2448	0	KIF5C	2	149861973	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	4958793	149861973	93337400	239	50510											
NEB	4703	broad.mit.edu	37	chr2	152500609	152500609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgggcaccaatgtggtggCcgagctgcttgcgaaagcct	14	12	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:152500609C>T	uc010fnx.2	-	57	7870	c.7679G>A	c.(7678-7680)GGC>GAC	p.G2560D		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2560					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		AATGTGGTGGCCGAGCTGCTT	0.448													T	152500609	C	T	152500609	3	4	74	1	0	0	0	0	1	0	0	0	10302	739	26	2	18511	2	NEB	2	152500609	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2638636	152500609	90698764	240	50511											
NR4A2	4929	broad.mit.edu	37	chr2	157182695	157182695	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggcagcaatgcaggagaAggcagaaatgtcgatgttca	14	7	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:157182695A>G	uc002tyz.3	-	7	1929	c.1507T>C	c.(1507-1509)TTC>CTC	p.F503L	NR4A2_uc002tyx.3_Missense_Mutation_p.F440L|NR4A2_uc010zcf.1_Missense_Mutation_p.F503L|NR4A2_uc010zcg.1_3'UTR	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	503					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						ATGCAGGAGAAGGCAGAAATG	0.517													G	157182695	A	G	157182695	3	3	74	1	0	0	0	0	1	0	0	0	10633	72	3	3	297	3	NR4A2	2	157182695	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	4682086	157182695	86016678	241	50512											
KCNH7	90134	broad.mit.edu	37	chr2	163228392	163228392	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctatgaagacccacgattcCtacagtgcttagggatgaat	9	10	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:163228392C>A	uc002uch.1	-	16	3750	c.3538G>T	c.(3538-3540)GGA>TGA	p.G1180*		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	1180	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	CCCACGATTCCTACAGTGCTT	0.408													A	163228392	C	A	163228392	4	1	74	1	0	0	0	0	0	1	0	0	8037	690	24	5	56	5	KCNH7	2	163228392	Nonsense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	6045697	163228392	79970981	242	50513											
SCN3A	6328	broad.mit.edu	37	chr2	165946887	165946887	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aattgcctctttgttatagtTacttgatatattttttaacc	4	6	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:165946887T>A	uc002ucx.2	-	28	6268	c.5776A>T	c.(5776-5778)AAC>TAC	p.N1926Y	SCN3A_uc010zcy.1_Missense_Mutation_p.N409Y|SCN3A_uc002ucy.2_Missense_Mutation_p.N1877Y|SCN3A_uc002ucz.2_Missense_Mutation_p.N1877Y	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1926	IQ.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	TTGTTATAGTTACTTGATATA	0.338													A	165946887	T	A	165946887	3	1	74	1	0	0	0	0	1	0	0	0	13918	1754	61	5	230	5	SCN3A	2	165946887	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	2718495	165946887	77252486	243	50514											
SCN2A	6326	broad.mit.edu	37	chr2	166171996	166171996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaggcggcagctgcagccGcatctgctgaatcaagagac	12	12	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:166171996G>A	uc002udc.2	+	11	1689	c.1399G>A	c.(1399-1401)GCA>ACA	p.A467T	SCN2A_uc002udd.2_Missense_Mutation_p.A467T|SCN2A_uc002ude.2_Missense_Mutation_p.A467T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	467					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	AGCTGCAGCCGCATCTGCTGA	0.408													A	166171996	G	A	166171996	3	1	74	1	0	0	0	0	1	0	0	0	13916	1087	38	1	1533	1	SCN2A	2	166171996	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	225109	166171996	77027377	244	50515											
SCN9A	6335	broad.mit.edu	37	chr2	167168191	167168191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattttctttcagcaatgcGttgttcaatgagggcaagag	11	6	3	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:167168191G>A	uc010fpl.2	-	2	417	c.76C>T	c.(76-78)CGC>TGC	p.R26C		NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	26						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCAGCAATGCGTTGTTCAATG	0.428													A	167168191	G	A	167168191	3	1	74	1	0	0	0	0	1	0	0	0	13925	1145	40	1	5961	1	SCN9A	2	167168191	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	996195	167168191	76031182	245	50516											
ABCB11	8647	broad.mit.edu	37	chr2	169836427	169836427	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcacgtccagttgcaaaGgcttccaaacaaggagaggc	12	11	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:169836427G>A	uc002ueo.1	-	11	1272	c.1146C>T	c.(1144-1146)GCC>GCT	p.A382A		NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	382	Cytoplasmic (Potential).|ABC transmembrane type-1 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CAGTTGCAAAGGCTTCCAAAC	0.438													A	169836427	G	A	169836427	2	1	74	1	0	0	0	0	0	0	0	1	42	987	35	4		4	ABCB11	2	169836427	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2668236	169836427	73362946	246	50517											
PPIG	9360	broad.mit.edu	37	chr2	170493494	170493494	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacagaagcagaagagtgCgatcaagaacccatgacaga	13	8	1	6			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:170493494C>T	uc002uez.2	+	14	1946	c.1726C>T	c.(1726-1728)CGA>TGA	p.R576*	PPIG_uc010fpx.2_Nonsense_Mutation_p.R561*|PPIG_uc010fpy.2_Nonsense_Mutation_p.R569*|PPIG_uc002ufb.2_Nonsense_Mutation_p.R576*|PPIG_uc002ufd.2_Nonsense_Mutation_p.R573*	NM_004792	NP_004783	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G	576	Arg/Ser-rich (RS domain).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|central_nervous_system(1)	3					L-Proline(DB00172)	CAGAAGAGTGCGATCAAGAAC	0.448													T	170493494	C	T	170493494	4	4	74	1	0	0	0	0	0	1	0	0	12324	760	27	1	1772	1	PPIG	2	170493494	Nonsense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	657067	170493494	72705879	247	50518											
METTL8	79828	broad.mit.edu	37	chr2	172195839	172195839	+	Frame_Shift_Del	DEL	T	T	-													cagaacttttctcataatgaTttttttcatcaggcacagta							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:172195839delT	uc010zdo.1	-	4	602	c.461delA	c.(460-462)AATfs	p.N154fs	METTL8_uc002ugu.3_Frame_Shift_Del_p.N154fs|METTL8_uc002ugv.3_Frame_Shift_Del_p.N154fs|METTL8_uc002ugt.3_Frame_Shift_Del_p.N154fs|METTL8_uc002ugs.3_Frame_Shift_Del_p.N104fs|METTL8_uc010zdp.1_Frame_Shift_Del_p.N109fs	NM_024770	NP_079046	B3KW44	B3KW44_HUMAN	methyltransferase like 8	154							methyltransferase activity			ovary(1)	1						CTCATAATGATTTTTTTCATC	0.383													-	172195839	T	-	172195839	7	5	74	1	0	1	0	1	0	0	0	0	9507	1493	52	0	790	0	METTL8	2	172195839	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	1702345	172195839	71003534	248	50519											
HOXD1	3231	broad.mit.edu	37	chr2	177053943	177053943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccactacgccacctcggcCgtcttctcgggcggcggctc	12	18	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:177053943C>T	uc002ukv.3	+	1	637	c.414C>T	c.(412-414)GCC>GCT	p.A138A	HOXD1_uc010fqy.2_Silent_p.A138A|HOXD1_uc010zez.1_Silent_p.A138A	NM_024501	NP_078777	Q9GZZ0	HXD1_HUMAN	homeobox D1	138						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		CCACCTCGGCCGTCTTCTCGG	0.706													T	177053943	C	T	177053943	2	4	74	1	0	0	0	0	0	0	0	1	7318	639	23	1		1	HOXD1	2	177053943	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	4858104	177053943	66145430	249	50520											
RBM45	129831	broad.mit.edu	37	chr2	178986024	178986024	+	Frame_Shift_Del	DEL	T	T	-													tgaagaacagcttttcagcaTttttgatatagtaccaggat							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:178986023_178986023AT>A	uc002ulv.3	+	4	882	c.790_790AT>A	c.(790-792)attfs	p.I264fs		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	Homo sapiens RNA binding motif protein 45 (RBM45), mRNA.	266					cell differentiation|nervous system development	cytoplasm|nucleus	RNA binding|nucleotide binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			GCTTTTCAGCATTTTTGATAT	0.333													-	178986024	T	-	178986024	7	5	74	1	0	1	0	1	0	0	0	0	13139	1493	52	0	809	0	RBM45	2	178986024	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	1932081	178986024	64213349	250	50521											
DFNB59	494513	broad.mit.edu	37	chr2	179320767	179320767	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgaccacagcttgatacgTcagtcaaggagcagcagaaa	10	9	2	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:179320767T>C	uc002umi.3	+	4	794	c.438T>C	c.(436-438)CGT>CGC	p.R146R	DFNB59_uc002umj.3_Silent_p.R146R	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	146					sensory perception of sound						0			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			GCTTGATACGTCAGTCAAGGA	0.403													C	179320767	T	C	179320767	2	2	74	1	0	0	0	0	0	0	0	1	4456	1654	58	3		3	DFNB59	2	179320767	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	334743	179320767	63878606	251	50522											
TTN	7273	broad.mit.edu	37	chr2	179407141	179407141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgattcagaaacgggcaGccatcctggacgatgagcgt	12	11	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:179407141G>A	uc010zfg.1	-	298	89862	c.89638C>T	c.(89638-89640)CTG>TTG	p.L29880L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L23575L|TTN_uc010zfi.1_Silent_p.L23508L|TTN_uc010zfj.1_Silent_p.L23383L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30807							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAACGGGCAGCCATCCTGGA	0.498													A	179407141	G	A	179407141	2	1	74	1	0	0	0	0	0	0	0	1	16732	962	34	2		2	TTN	2	179407141	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	86374	179407141	63792232	252	50523											
TTN	7273	broad.mit.edu	37	chr2	179612351	179612351	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actctggacaagctttgcctGgtctctggtgtctttagttt	10	9	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:179612351G>T	uc002unb.2	-	46	15000	c.14776C>A	c.(14776-14778)CAG>AAG	p.Q4926K	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTTTGCCTGGTCTCTGGTG	0.443													T	179612351	G	T	179612351	3	4	74	1	0	0	0	0	1	0	0	0	16732	1357	47	5	95521	5	TTN	2	179612351	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	205210	179612351	63587022	253	50524											
CERKL	375298	broad.mit.edu	37	chr2	182468728	182468728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctgtttaacagaacaaCgccgtttcagtttcacagag	8	10	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:182468728C>T	uc002unx.2	-	2	418	c.317G>A	c.(316-318)CGT>CAT	p.R106H	CERKL_uc002uny.2_Missense_Mutation_p.R106H|CERKL_uc010zfm.1_Missense_Mutation_p.R106H|CERKL_uc002unz.2_5'UTR|CERKL_uc002uoa.2_Missense_Mutation_p.R106H|CERKL_uc002uob.2_5'UTR|CERKL_uc002uoc.2_Missense_Mutation_p.R106H|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_5'UTR|CERKL_uc002uoe.2_Missense_Mutation_p.R106H	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	ceramide kinase-like isoform b	106	Nuclear localization signal 2.		R -> S (in RP26).	KRR->GGG: Only cytoplasmic.	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AACAGAACAACGCCGTTTCAG	0.313													T	182468728	C	T	182468728	3	4	74	1	0	0	0	0	1	0	0	0	3268	536	19	1	1411	1	CERKL	2	182468728	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2856377	182468728	60730645	254	50525											
ZSWIM2	151112	broad.mit.edu	37	chr2	187693320	187693320	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctattttgttttaagacTaatccagtaccaggaataaa	6	6	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:187693320T>C	uc002upu.1	-	9	1333	c.1293A>G	c.(1291-1293)TTA>TTG	p.L431L		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	431					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GTTTTAAGACTAATCCAGTAC	0.353													C	187693320	T	C	187693320	2	2	74	1	0	0	0	0	0	0	0	1	18238	1519	53	3		3	ZSWIM2	2	187693320	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	5224592	187693320	55506053	255	50526											
ZSWIM2	151112	broad.mit.edu	37	chr2	187713711	187713711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcggaaatccatgtattcCggctcctcctccctcagcag	7	16	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:187713711C>T	uc002upu.1	-	1	187	c.147G>A	c.(145-147)CCG>CCA	p.P49P		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	49					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCATGTATTCCGGCTCCTCCT	0.622													T	187713711	C	T	187713711	2	4	74	1	0	0	0	0	0	0	0	1	18238	639	23	1		1	ZSWIM2	2	187713711	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	20391	187713711	55485662	256	50527											
CALCRL	10203	broad.mit.edu	37	chr2	188217046	188217047	+	Frame_Shift_Ins	INS	-	-	A													gcgtacaatatttaacaagaINSaaaaaagattcacctaaaaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:188217045_188217046G>GA	uc010frt.3	-	11	1306_1307	c.923_924C>TC	c.(922-924)ttcfs	p.F308fs	CALCRL_uc002upv.4_Frame_Shift_Ins_p.F308fs	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	308						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TATTTAACAAGAAAAAAAGATT	0.307													A	188217047	-	A	188217046	7	5	74	1	0	1	1	0	0	0	0	0	2580	246	9	0	474	0	CALCRL	2	188217046	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	503335	188217046	54982327	257	50528											
ANKAR	150709	broad.mit.edu	37	chr2	190611170	190611170	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gattctttgactttattaccTcctgtaactaacttcatggg	6	9	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:190611170T>G	uc002uqw.1	+	22	3909	c.3909T>G	c.(3907-3909)CCT>CCG	p.P1303P	ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA|ANKAR_uc002uqy.1_3'UTR	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1374						integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTTTATTACCTCCTGTAACTA	0.323													G	190611170	T	G	190611170	2	3	74	1	0	0	0	0	0	0	0	1	623	1538	54	5		5	ANKAR	2	190611170	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	2394124	190611170	52588203	258	50529											
GLS	2744	broad.mit.edu	37	chr2	191760352	191760352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actcaaatctacaggattgcGaacgtctgatcccaggttga	9	10	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:191760352G>A	uc002usf.2	+	3	770	c.506G>A	c.(505-507)CGA>CAA	p.R169Q	GLS_uc002usd.2_3'UTR|GLS_uc002use.2_Missense_Mutation_p.R169Q	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase precursor	169					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACAGGATTGCGAACGTCTGAT	0.303													A	191760352	G	A	191760352	3	1	74	1	0	0	0	0	1	0	0	0	6463	1058	37	1	516	1	GLS	2	191760352	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1149182	191760352	51439021	259	50530											
TMEFF2	23671	broad.mit.edu	37	chr2	192863895	192863896	+	Frame_Shift_Ins	INS	-	-	T													catcagaagcgcagaggggaINSttgaagttggtttgagaaca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:192863895_192863896insT	uc002utc.2	-	6	969_970	c.575_576insA	c.(574-576)AATfs	p.N192fs		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two	192	Kazal-like 2.|Extracellular (Potential).					extracellular region|integral to membrane				lung(2)|pancreas(1)|breast(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CGCAGAGGGGATTGAAGTTGGT	0.351													T	192863896	-	T	192863895	7	5	74	1	0	1	1	0	0	0	0	0	16011	330	12	0	568	0	TMEFF2	2	192863895	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1103543	192863895	50335478	260	50531	202	2									
TMEFF2	23671	broad.mit.edu	37	chr2	192863896	192863897	+	Frame_Shift_Ins	INS	-	-	T													atcagaagcgcagaggggatINStgaagttggtttgagaacag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:192863895_192863896A>AT	uc002utc.3	-	5	969_970	c.575_576T>AT	c.(574-576)aatfs	p.N192fs		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.	192	Kazal-like 2.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CGCAGAGGGGATTGAAGTTGGT	0.351													T	192863897	-	T	192863896	7	5	74	1	0	1	1	0	0	0	0	0	16011	1493	52	0	569	0	TMEFF2	2	192863896	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1	192863896	50335477	261	50532	202	2									
SLC39A10	57181	broad.mit.edu	37	chr2	196544942	196544943	+	Frame_Shift_Ins	INS	-	-	A													aagcaagctgctgaaaatgaINSaaaaaaatactatattgaaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:196544941_196544942G>GA	uc002utg.4	+	1	389_390	c.175_176G>GA	c.(175-177)gaafs	p.E59fs	SLC39A10_uc002uth.4_Frame_Shift_Ins_p.E59fs|SLC39A10_uc010zgp.2_Intron	NM_001127257	NP_065075	Q9ULF5	S39AA_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA.	59					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TGCTGAAAATGAAAAAAAATAC	0.381													A	196544943	-	A	196544942	7	5	74	1	0	1	1	0	0	0	0	0	14613	246	9	0	178	0	SLC39A10	2	196544942	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	3681046	196544942	46654431	262	50533											
DNAH7	56171	broad.mit.edu	37	chr2	196834715	196834715	+	Frame_Shift_Del	DEL	T	T	-													ttccattcagtatttgagccTtttttaggtaccgctgaaca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:196834714_196834714CT>C	uc002utj.4	-	16	2264	c.2163_2163AG>G	c.(2161-2163)aagfs	p.K721fs		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	721	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTATTTGAGCCTTTTTTAGGT	0.338													-	196834715	T	-	196834715	7	5	74	1	0	1	0	1	0	0	0	0	4606	1609	56	0	10108	0	DNAH7	2	196834715	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	289773	196834715	46364658	263	50534											
HSPD1	3329	broad.mit.edu	37	chr2	198353864	198353864	+	Frame_Shift_Del	DEL	T	T	-													tgagccttgtcaccttttccTtttaagagcatggcatcgtc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:198353864delT	uc002uui.2	-	9	1214	c.1077delA	c.(1075-1077)AAAfs	p.K359fs	HSPD1_uc002uuj.2_Frame_Shift_Del_p.K357fs|HSPD1_uc010zgx.1_Frame_Shift_Del_p.K350fs|HSPD1_uc010fsm.2_Frame_Shift_Del_p.K170fs|HSPD1_uc002uuk.2_Frame_Shift_Del_p.K359fs	NM_002156	NP_002147	P10809	CH60_HUMAN	chaperonin	359					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding				0			Epithelial(96;0.225)			CACCTTTTCCTTTTAAGAGCA	0.393													-	198353864	T	-	198353864	7	5	74	1	0	1	0	1	0	0	0	0	7428	1606	56	0	660	0	HSPD1	2	198353864	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	1519149	198353864	44845509	264	50535											
ALS2CR11	151254	broad.mit.edu	37	chr2	202483623	202483623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcccccgctcactcacGttcagcagccggtgcccggt	11	19	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:202483623G>A	uc002uye.2	-	1	279	c.231C>T	c.(229-231)AAC>AAT	p.N77N	ALS2CR11_uc002uyf.2_Silent_p.N77N|ALS2CR11_uc010fti.2_Silent_p.N77N	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	77										large_intestine(1)|ovary(1)|skin(1)	3						GCTCACTCACGTTCAGCAGCC	0.637													A	202483623	G	A	202483623	2	1	74	1	0	0	0	0	0	0	0	1	552	1159	40	1		1	ALS2CR11	2	202483623	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	4129759	202483623	40715750	265	50536											
MPP4	58538	broad.mit.edu	37	chr2	202520921	202520921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcatgctgggacatacCcatgagcactatgaggcggt	13	10	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:202520921C>T	uc002uyk.3	-	17	1508	c.1300G>A	c.(1300-1302)GGA>AGA	p.G434R	MPP4_uc002uyi.3_Missense_Mutation_p.G52R|MPP4_uc010ftj.2_Missense_Mutation_p.G427R|MPP4_uc010zhq.1_Missense_Mutation_p.G403R|MPP4_uc010zhr.1_Missense_Mutation_p.G410R|MPP4_uc010zhs.1_Missense_Mutation_p.G359R|MPP4_uc002uyj.3_Missense_Mutation_p.G399R|MPP4_uc010zht.1_Missense_Mutation_p.G376R|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.G390R	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	434	Guanylate kinase-like.					cytoplasm	protein binding				0						TGGGACATACCCATGAGCACT	0.527													T	202520921	C	T	202520921	3	4	74	1	0	0	0	0	1	0	0	0	9736	637	22	4	637	4	MPP4	2	202520921	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	37298	202520921	40678452	266	50537											
ALS2	57679	broad.mit.edu	37	chr2	202575807	202575807	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaactctctagtgtctgagtCtgtgaacgactcagtatttc	8	9	4	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:202575807C>T	uc002uyo.2	-	26	4385	c.4029G>A	c.(4027-4029)CAG>CAA	p.Q1343Q	ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	1343					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7						GTGTCTGAGTCTGTGAACGAC	0.358													T	202575807	C	T	202575807	2	4	74	1	0	0	0	0	0	0	0	1	550	912	32	4		4	ALS2	2	202575807	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	54886	202575807	40623566	267	50538											
KLF7	8609	broad.mit.edu	37	chr2	207953238	207953238	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtgtttcctgtagtgcctCgtgagctcatcgcttcgtgc	12	11	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:207953238C>T	uc002vbz.1	-	3	1123	c.801G>A	c.(799-801)ACG>ACA	p.T267T	KLF7_uc002vca.1_Missense_Mutation_p.R200Q|KLF7_uc010zix.1_Silent_p.T239T	NM_003709	NP_003700	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	267	C2H2-type 2.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			central_nervous_system(1)|skin(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		TGTAGTGCCTCGTGAGCTCAT	0.522													T	207953238	C	T	207953238	2	4	74	1	0	0	0	0	0	0	0	1	8351	871	31	1		1	KLF7	2	207953238	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	5377431	207953238	35246135	268	50539											
PLEKHM3	389072	broad.mit.edu	37	chr2	208725856	208725856	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaatatcctcaaaagggTagaggatctctccattgtta	8	7	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:208725856T>C	uc002vcl.2	-	7	2571	c.2081A>G	c.(2080-2082)TAC>TGC	p.Y694C		NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M,	694	Phorbol-ester/DAG-type.				intracellular signal transduction		metal ion binding			ovary(1)	1						CTCAAAAGGGTAGAGGATCTC	0.408													C	208725856	T	C	208725856	3	2	74	1	0	0	0	0	1	0	0	0	12082	1638	57	3	212	3	PLEKHM3	2	208725856	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	772618	208725856	34473517	269	50540											
PIKFYVE	200576	broad.mit.edu	37	chr2	209209918	209209918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagggcttccaacaaataGgtgattcatgattgagtaga	11	5	1	5			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:209209918G>A	uc002vcz.2	+	33	5269	c.5111G>A	c.(5110-5112)AGT>AAT	p.S1704N		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1704					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						CCAACAAATAGGTGATTCATG	0.333													A	209209918	G	A	209209918	3	1	74	1	0	0	0	0	1	0	0	0	11924	1014	35	4	5248	4	PIKFYVE	2	209209918	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	484062	209209918	33989455	270	50541											
PIKFYVE	200576	broad.mit.edu	37	chr2	209212722	209212722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacgggcaaggaggggacCgagaatcaaggcgttgagcc	17	9	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:209212722C>T	uc002vcz.2	+	35	5507	c.5349C>T	c.(5347-5349)ACC>ACT	p.T1783T		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1783	PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						AGGAGGGGACCGAGAATCAAG	0.448													T	209212722	C	T	209212722	2	4	74	1	0	0	0	0	0	0	0	1	11924	639	23	1		1	PIKFYVE	2	209212722	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2804	209212722	33986651	271	50542											
MAP2	4133	broad.mit.edu	37	chr2	210559225	210559225	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtaaaagctactggagaAgaaagtactcaagcggagat	11	5	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:210559225A>G	uc002vde.1	+	7	2579	c.2331A>G	c.(2329-2331)GAA>GAG	p.E777E	MAP2_uc002vdc.1_Silent_p.E777E|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.E773E	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	777					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CTACTGGAGAAGAAAGTACTC	0.443													G	210559225	A	G	210559225	2	3	74	1	0	0	0	0	0	0	0	1	9235	69	3	3		3	MAP2	2	210559225	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1346503	210559225	32640148	272	50543											
MAP2	4133	broad.mit.edu	37	chr2	210570373	210570373	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccattctccctcctcggCgaggtgtgtcaggagacaga	11	14	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:210570373C>T	uc002vde.1	+	11	4902	c.4654C>T	c.(4654-4656)CGA>TGA	p.R1552*	MAP2_uc002vdd.1_Nonsense_Mutation_p.R253*|MAP2_uc002vdf.1_Nonsense_Mutation_p.R196*|MAP2_uc002vdg.1_Nonsense_Mutation_p.R196*|MAP2_uc002vdh.1_Nonsense_Mutation_p.R253*|MAP2_uc002vdi.1_Nonsense_Mutation_p.R1548*	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1552					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CCCTCCTCGGCGAGGTGTGTC	0.473													T	210570373	C	T	210570373	4	4	74	1	0	0	0	0	0	1	0	0	9235	760	27	1	4859	1	MAP2	2	210570373	Nonsense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	11148	210570373	32629000	273	50544											
ERBB4	2066	broad.mit.edu	37	chr2	212589893	212589893	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgtagcatctgccgtcacAttgttctgcacacaccgtcc	7	16	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:212589893A>G	uc002veg.1	-	6	747	c.649T>C	c.(649-651)TGT>CGT	p.C217R	ERBB4_uc002veh.1_Missense_Mutation_p.C217R|ERBB4_uc010zji.1_Missense_Mutation_p.C217R|ERBB4_uc010zjj.1_Missense_Mutation_p.C217R|ERBB4_uc010fut.1_Missense_Mutation_p.C217R	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	217	Cys-rich.|Extracellular (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTGCCGTCACATTGTTCTGCA	0.507										TSP Lung(8;0.080)			G	212589893	A	G	212589893	3	3	74	1	0	0	0	0	1	0	0	0	5209	217	8	3	3369	3	ERBB4	2	212589893	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	2019520	212589893	30609480	274	50545											
BARD1	580	broad.mit.edu	37	chr2	215646085	215646085	+	Frame_Shift_Del	DEL	T	T	-													tcttgctgagcacttgcatcTttttttattgcaggctgggt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:215646084_215646084CT>C	uc002veu.2	-	3	649	c.514_514AG>G	c.(514-516)gatfs	p.D172fs	BARD1_uc021vwe.1_Frame_Shift_Del_p.D153fs|BARD1_uc021vwf.1_Frame_Shift_Del_p.D75fs|BARD1_uc021vwg.1_Intron|BARD1_uc021vwh.1_Intron|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Intron|BARD1_uc010zjm.1_Frame_Shift_Del_p.D28fs|BARD1_uc021vwj.1_Frame_Shift_Del_p.D172fs	NM_000465	NP_000456	Q99728	BARD1_HUMAN	Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.	172					DNA repair|cell cycle arrest|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	RNA binding|kinase binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCACTTGCATCTTTTTTTATT	0.398									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				-	215646085	T	-	215646085	7	5	74	1	0	1	0	1	0	0	0	0	1312	1606	56	0	1852	0	BARD1	2	215646085	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	3056192	215646085	27553288	275	50546											
ABCA12	26154	broad.mit.edu	37	chr2	215818621	215818621	+	Frame_Shift_Del	DEL	A	A	-													gttgattaagagtcgcaaggAaaaaaacatggtgccctgag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:215818621delA	uc002vew.2	-	44	6824	c.6604delT	c.(6604-6606)TCCfs	p.S2202fs	ABCA12_uc002vev.2_Frame_Shift_Del_p.S1884fs|ABCA12_uc010zjn.1_Frame_Shift_Del_p.S1129fs	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	2202	Helical; (Potential).				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGTCGCAAGGAAAAAAACATG	0.353													-	215818621	A	-	215818621	7	5	74	1	0	1	0	1	0	0	0	0	30	246	9	0	1223	0	ABCA12	2	215818621	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	172536	215818621	27380752	276	50547											
FN1	2335	broad.mit.edu	37	chr2	216257776	216257776	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtatcctactgaggagtccAcaaaatcttcaaaaataggg	8	8	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:216257776A>G	uc002vfa.2	-	25	4213	c.3947T>C	c.(3946-3948)GTG>GCG	p.V1316A	FN1_uc002vfb.2_Intron|FN1_uc002vfc.2_Intron|FN1_uc002vfd.2_Missense_Mutation_p.V1316A|FN1_uc002vfe.2_Intron|FN1_uc002vff.2_Intron|FN1_uc002vfg.2_Intron|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Missense_Mutation_p.V1316A|FN1_uc002vfj.2_Missense_Mutation_p.V1316A|FN1_uc002vez.2_5'Flank|FN1_uc010zjp.1_5'UTR	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1316	Fibronectin type-III 8.|Cell-attachment.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAGGAGTCCACAAAATCTTC	0.507													G	216257776	A	G	216257776	3	3	74	1	0	0	0	0	1	0	0	0	5962	159	6	3	3574	3	FN1	2	216257776	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	439155	216257776	26941597	277	50548											
TNS1	7145	broad.mit.edu	37	chr2	218674687	218674687	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgagtgactccatgtccAcagagttgacgaagagcaca	11	10	0	5			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:218674687A>G	uc002vgt.2	-	30	5218	c.4820T>C	c.(4819-4821)GTG>GCG	p.V1607A	TNS1_uc002vgr.2_Missense_Mutation_p.V1593A|TNS1_uc002vgs.2_Missense_Mutation_p.V1586A|TNS1_uc002vgq.2_Missense_Mutation_p.V107A	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1607						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTCCATGTCCACAGAGTTGAC	0.552													G	218674687	A	G	218674687	3	3	74	1	0	0	0	0	1	0	0	0	16340	159	6	3	403	3	TNS1	2	218674687	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	2416911	218674687	24524686	278	50549											
CCDC108	255101	broad.mit.edu	37	chr2	219868908	219868910	+	In_Frame_Del	DEL	TCT	TCT	-													cctcctcttcctcctccaacTcttcttcttcctcttcaccc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:219868907_219868909CTCT>C	uc002vjl.1	-	32	5404_5406	c.5320_5322AGAG>G	c.(5320-5322)gag>G	p.E1774del	MIR375_uc010fvz.1_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1774	Glu-rich.					integral to membrane	structural molecule activity	p.E1774Q(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		cctcctccaactcttcttcttcc	0.542													-	219868910	TCT	-	219868908	7	5	74	1	0	1	0	1	0	0	0	0	2743	1551	54	0	468	0	CCDC108	2	219868908	In_Frame_Del	DEL	TCT	TCGA-BR-8361-01A-11D-2340-08	1194221	219868908	23330465	279	50550											
CCDC108	255101	broad.mit.edu	37	chr2	219900384	219900384	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtgtccatggagcttgcGggctgttcaggtggcaggga	18	7	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:219900384G>A	uc002vjl.1	-	5	444	c.360C>T	c.(358-360)CCC>CCT	p.P120P	CCDC108_uc010zkp.1_Silent_p.P109P|CCDC108_uc010zkq.1_Silent_p.P55P|CCDC108_uc002vjn.2_Silent_p.P55P	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	120						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGAGCTTGCGGGCTGTTCAG	0.567													A	219900384	G	A	219900384	2	1	74	1	0	0	0	0	0	0	0	1	2743	1103	39	1		1	CCDC108	2	219900384	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	31476	219900384	23298989	280	50551											
SLC23A3	151295	broad.mit.edu	37	chr2	220033482	220033482	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggcccacagtgggggAacacgtggccgggactcccc	16	15	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:220033482A>G	uc010zks.1	-	5	677	c.566T>C	c.(565-567)TTC>TCC	p.F189S	NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Missense_Mutation_p.F197S|SLC23A3_uc010fwb.2_Missense_Mutation_p.F189S|SLC23A3_uc002vjs.1_Silent_p.V41V|SLC23A3_uc002vjt.1_Missense_Mutation_p.F47S	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN	solute carrier family 23 (nucleobase	189	Helical; (Potential).				transmembrane transport	integral to membrane	protein binding|transporter activity				0		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAGTGGGGGAACACGTGGCC	0.647													G	220033482	A	G	220033482	3	3	74	1	0	0	0	0	1	0	0	0	14464	246	9	3	1298	3	SLC23A3	2	220033482	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	133098	220033482	23165891	281	50552											
ANKZF1	55139	broad.mit.edu	37	chr2	220098560	220098560	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcaagggagcacccctgCaaaggggggatccccgactt	15	12	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:220098560C>T	uc002vkg.2	+	8	1117	c.943C>T	c.(943-945)CAA>TAA	p.Q315*	ANKZF1_uc010zkv.1_Nonsense_Mutation_p.Q259*|ANKZF1_uc010zkw.1_Nonsense_Mutation_p.Q105*|ANKZF1_uc002vkh.2_Nonsense_Mutation_p.Q105*|ANKZF1_uc002vki.2_Nonsense_Mutation_p.Q315*|ANKZF1_uc002vkj.1_Nonsense_Mutation_p.Q303*	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing	315						intracellular	zinc ion binding			ovary(2)	2		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCACCCCTGCAAAGGGGGGA	0.602													T	220098560	C	T	220098560	4	4	74	1	0	0	0	0	0	1	0	0	693	711	25	2	969	2	ANKZF1	2	220098560	Nonsense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	65078	220098560	23100813	282	50553											
SPEG	10290	broad.mit.edu	37	chr2	220331921	220331921	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaaagccggtccctggcCgtgctggcccccctgcagga	13	17	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:220331921C>T	uc010fwg.2	+	10	2907	c.2907C>T	c.(2905-2907)GCC>GCT	p.A969A		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	969	Ig-like 4.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGTCCCTGGCCGTGCTGGCCC	0.677											OREG0004000	type=REGULATORY REGION|Gene=APEG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	220331921	C	T	220331921	2	4	74	1	0	0	0	0	0	0	0	1	15035	639	23	1		1	SPEG	2	220331921	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	233361	220331921	22867452	283	50554											
ACCN4	55515	broad.mit.edu	37	chr2	220379897	220379897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaagaccgggatgggcacCgtgcggctggcctgcgctac	15	14	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:220379897C>T	uc002vma.2	+	1	846	c.832C>T	c.(832-834)CGT>TGT	p.R278C	ACCN4_uc010fwi.1_Missense_Mutation_p.R278C|ACCN4_uc010fwj.1_Missense_Mutation_p.R278C|ACCN4_uc002vly.1_Missense_Mutation_p.R278C|ACCN4_uc002vlz.2_Missense_Mutation_p.R278C|ACCN4_uc002vmb.2_5'Flank	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN	amiloride-sensitive cation channel 4 isoform 2	278	Extracellular (Potential).					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity			ovary(2)	2		Renal(207;0.0183)		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)		GGATGGGCACCGTGCGGCTGG	0.612													T	220379897	C	T	220379897	3	4	74	1	0	0	0	0	1	0	0	0	131	652	23	1	834	1	ACCN4	2	220379897	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	47976	220379897	22819476	284	50555											
SLC4A3	6508	broad.mit.edu	37	chr2	220502335	220502335	+	Frame_Shift_Del	DEL	C	C	-													cacccactgctgccgttctaCccccctgagggggccctgga							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:220502335delC	uc002vmp.3	+	17	2837	c.2568delC	c.(2566-2568)TACfs	p.Y856fs	SLC4A3_uc002vmo.3_Frame_Shift_Del_p.Y883fs|SLC4A3_uc010fwm.2_Frame_Shift_Del_p.Y406fs|SLC4A3_uc010fwn.1_Frame_Shift_Del_p.Y365fs	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	856	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCCGTTCTACCCCCCTGAGG	0.632													-	220502335	C	-	220502335	7	5	74	1	0	1	0	1	0	0	0	0	14655	518	18	0	2711	0	SLC4A3	2	220502335	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	122438	220502335	22697038	285	50556											
SERPINE2	5270	broad.mit.edu	37	chr2	224856607	224856607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgcgtttctttgtgttctCgggttggaaccgtgatttcc	12	8	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:224856607C>T	uc002vnu.2	-	4	841	c.598G>A	c.(598-600)GAG>AAG	p.E200K	SERPINE2_uc002vnt.2_Missense_Mutation_p.E200K|SERPINE2_uc010zlr.1_Missense_Mutation_p.E212K|SERPINE2_uc002vnv.2_Missense_Mutation_p.E200K	NM_006216	NP_006207	P07093	GDN_HUMAN	plasminogen activator inhibitor type 1, member 2	200					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|ovary(1)|central_nervous_system(1)	4		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTTGTGTTCTCGGGTTGGAAC	0.527													T	224856607	C	T	224856607	3	4	74	1	0	0	0	0	1	0	0	0	14112	893	31	1	622	1	SERPINE2	2	224856607	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	4354272	224856607	18342766	286	50557											
SERPINE2	5270	broad.mit.edu	37	chr2	224866442	224866442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcatccccaggaccgacGcaatcccatggggagagatc	12	13	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:224866442G>A	uc002vnu.2	-	2	419	c.176C>T	c.(175-177)GCG>GTG	p.A59V	SERPINE2_uc002vnt.2_Missense_Mutation_p.A59V|SERPINE2_uc010zlr.1_Missense_Mutation_p.A71V|SERPINE2_uc002vnv.2_Missense_Mutation_p.A59V	NM_006216	NP_006207	P07093	GDN_HUMAN	plasminogen activator inhibitor type 1, member 2	59					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|ovary(1)|central_nervous_system(1)	4		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CAGGACCGACGCAATCCCATG	0.557													A	224866442	G	A	224866442	3	1	74	1	0	0	0	0	1	0	0	0	14112	1087	38	1	1052	1	SERPINE2	2	224866442	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	9835	224866442	18332931	287	50558											
DOCK10	55619	broad.mit.edu	37	chr2	225637972	225637972	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaaaccttcttggacaTctcgtcaattgccacttcaa	5	13	5	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:225637972T>C	uc010fwz.1	-	53	6345	c.6106A>G	c.(6106-6108)ATG>GTG	p.M2036V	DOCK10_uc002vob.2_Missense_Mutation_p.M2030V|DOCK10_uc002voa.2_Missense_Mutation_p.M692V	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2036	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTCTTGGACATCTCGTCAATT	0.448													C	225637972	T	C	225637972	3	2	74	1	0	0	0	0	1	0	0	0	4685	1435	50	3	470	3	DOCK10	2	225637972	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	771530	225637972	17561401	288	50559											
SLC19A3	80704	broad.mit.edu	37	chr2	228560704	228560704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgcatgagaaataaagaaCcggcattgacaactgagaag	10	6	0	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:228560704C>T	uc002vpi.2	-	4	1162	c.1073G>A	c.(1072-1074)GGT>GAT	p.G358D	SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.G354D	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	solute carrier family 19, member 3	358	Helical; (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	AAATAAAGAACCGGCATTGAC	0.468													T	228560704	C	T	228560704	3	4	74	1	0	0	0	0	1	0	0	0	14430	507	18	4	429	4	SLC19A3	2	228560704	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2922732	228560704	14638669	289	50560											
PID1	55022	broad.mit.edu	37	chr2	230020538	230020538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacgtgccccataccttgCagccactgtgagtccttgtc	9	16	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:230020538C>T	uc002vpr.3	-	2	310	c.272G>A	c.(271-273)TGC>TAC	p.C91Y	PID1_uc002vps.3_Missense_Mutation_p.C89Y|PID1_uc002vpt.3_Missense_Mutation_p.C58Y|PID1_uc002vpu.3_Intron	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	91						cytoplasm				breast(3)|skin(1)	4		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CCATACCTTGCAGCCACTGTG	0.517													T	230020538	C	T	230020538	3	4	74	1	0	0	0	0	1	0	0	0	11882	710	25	2	488	2	PID1	2	230020538	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1459834	230020538	13178835	290	50561											
ALPP	250	broad.mit.edu	37	chr2	233244007	233244007	+	Silent	SNP	A	A	G													ctggccatggaccgcttcccAtatgtggctctgtccaaggt					rs1130339		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:233244007A>G	uc002vsq.2	+	3	456	c.291A>G	c.(289-291)CCA>CCG	p.P97P	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	97						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		ACCGCTTCCCATATGTGGCTC	0.572													G	233244007	A	G	233244007	2	3	74	1	0	0	0	0	0	0	0	1	548	204	8	3		3	ALPP	2	233244007	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	3223469	233244007	9955366	291	50562	203	2									
ALPP	250	broad.mit.edu	37	chr2	233244010	233244010	+	Silent	SNP	T	T	C													gccatggaccgcttcccataTgtggctctgtccaaggtaag					rs1130340		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:233244010T>C	uc002vsq.2	+	3	459	c.294T>C	c.(292-294)TAT>TAC	p.Y98Y	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	98						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCTTCCCATATGTGGCTCTGT	0.567													C	233244010	T	C	233244010	2	2	74	1	0	0	0	0	0	0	0	1	548	1471	51	3		3	ALPP	2	233244010	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	3	233244010	9955363	292	50563	203	2									
ECEL1	9427	broad.mit.edu	37	chr2	233350967	233350967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtggcgccgcagccaacCgccgcaggcgaacgagtaga	16	14	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:233350967C>T	uc002vsv.2	-	2	602	c.397G>A	c.(397-399)GGT>AGT	p.G133S	ECEL1_uc010fya.1_Missense_Mutation_p.G133S|ECEL1_uc010fyb.1_5'UTR	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	133	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CGCAGCCAACCGCCGCAGGCG	0.682													T	233350967	C	T	233350967	3	4	74	1	0	0	0	0	1	0	0	0	4891	652	23	1	1998	1	ECEL1	2	233350967	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	106957	233350967	9848406	293	50564											
SH3BP4	23677	broad.mit.edu	37	chr2	235950020	235950020	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgcaggtacatcctccttcAccgaatccagctcagccacc	6	18	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:235950020A>G	uc002vvp.2	+	4	1000	c.607A>G	c.(607-609)ACC>GCC	p.T203A	SH3BP4_uc010fym.2_Missense_Mutation_p.T203A|SH3BP4_uc002vvq.2_Missense_Mutation_p.T203A	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	203					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		ATCCTCCTTCACCGAATCCAG	0.542													G	235950020	A	G	235950020	3	3	74	1	0	0	0	0	1	0	0	0	14246	159	6	3	613	3	SH3BP4	2	235950020	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	2599053	235950020	7249353	294	50565											
HDAC4	9759	broad.mit.edu	37	chr2	240002823	240002823	+	Frame_Shift_Del	DEL	G	G	-													aagtactcagcgtctcccatGggggggtccaggccgccggt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:240002823delG	uc002vyk.3	-	22	3495	c.2703delC	c.(2701-2703)CCCfs	p.P901fs	HDAC4_uc010fyy.2_Frame_Shift_Del_p.P858fs	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	901	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CGTCTCCCATGGGGGGGTCCA	0.602													-	240002823	G	-	240002823	7	5	74	1	0	1	0	1	0	0	0	0	7009	1335	47	0	575	0	HDAC4	2	240002823	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	4052803	240002823	3196550	295	50566											
SNED1	25992	broad.mit.edu	37	chr2	241991207	241991207	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgccggaacgggggcacGtgcaaggaggcgggcggcga	20	12	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:241991207G>A	uc002wah.1	+	13	1782	c.1782G>A	c.(1780-1782)ACG>ACA	p.T594T		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	594	EGF-like 8.				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		ACGGGGGCACGTGCAAGGAGG	0.706													A	241991207	G	A	241991207	2	1	74	1	0	0	0	0	0	0	0	1	14845	1132	40	1		1	SNED1	2	241991207	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1988384	241991207	1208166	296	50567											
PASK	23178	broad.mit.edu	37	chr2	242051830	242051830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggatgatgtccttcaagcGcaggtatcccactgctgaca	11	11	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:242051830G>A	uc002wao.1	-	15	3450	c.3358C>T	c.(3358-3360)CGC>TGC	p.R1120C	PASK_uc010zol.1_Missense_Mutation_p.R934C|PASK_uc010zom.1_Missense_Mutation_p.R1085C|PASK_uc010fzl.1_Missense_Mutation_p.R1127C|PASK_uc010zon.1_Missense_Mutation_p.R901C	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1120	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TCCTTCAAGCGCAGGTATCCC	0.458													A	242051830	G	A	242051830	3	1	74	1	0	0	0	0	1	0	0	0	11472	1087	38	1	629	1	PASK	2	242051830	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	60623	242051830	1147543	297	50568											
THAP4	51078	broad.mit.edu	37	chr2	242573298	242573300	+	In_Frame_Del	DEL	TCT	TCT	-													gccatggcctccagccccccTcttcttctcggtcaggtgga							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr2:242573298_242573300delTCT	uc002wbt.2	-	2	495_497	c.272_274delAGA	c.(271-276)AAGAGG>AGG	p.K91del		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	THAP domain containing 4 isoform 1	91							DNA binding|metal ion binding				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CCAGCCCCCCTCTTCTTCTCGGT	0.631													-	242573300	TCT	-	242573298	7	5	74	1	0	1	0	1	0	0	0	0	15843	1550	54	0	1487	0	THAP4	2	242573298	In_Frame_Del	DEL	TCT	TCGA-BR-8361-01A-11D-2340-08	521468	242573298	626075	298	50569											
CNTN6	27255	broad.mit.edu	37	chr3	1443201	1443201	+	Frame_Shift_Del	DEL	A	A	-													ggagcatgtaaaaaccatggAaaatgagtctgaagttttgg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:1443200_1443200GA>G	uc003boz.3	+	20	3055	c.2788_2788GA>G	c.(2788-2790)gaafs	p.E930fs	CNTN6_uc011asj.2_Frame_Shift_Del_p.E858fs|CNTN6_uc003bpa.3_Frame_Shift_Del_p.E930fs	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	930	Fibronectin type-III 4.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAAAACCATGGAAAATGAGTC	0.368													-	1443201	A	-	1443201	7	5	74	1	0	1	0	1	0	0	0	0	3645	246	9	0	2867	0	CNTN6	3	1443201	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08		1443201	196579229	299	50570											
OXTR	5021	broad.mit.edu	37	chr3	8809680	8809680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcttctggcgtgtggtgCgcagcgccagcagcacacac	14	13	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:8809680C>T	uc003brc.2	-	3	816	c.194G>A	c.(193-195)CGC>CAC	p.R65H		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	65	Cytoplasmic (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GCGTGTGGTGCGCAGCGCCAG	0.662													T	8809680	C	T	8809680	3	4	74	1	0	0	0	0	1	0	0	0	11338	768	27	1	983	1	OXTR	3	8809680	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	7366479	8809680	189212750	300	50571											
TTLL3	26140	broad.mit.edu	37	chr3	9870735	9870735	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccagacaacatgtggtctAgccagaggttccaggcccac	11	14	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:9870735A>C	uc003btg.2	+	10	1426	c.1210A>C	c.(1210-1212)AGC>CGC	p.S404R	ARPC4_uc003btc.1_Missense_Mutation_p.S48R|TTLL3_uc003btd.3_Missense_Mutation_p.S371R|TTLL3_uc003btf.3_Missense_Mutation_p.S136R|TTLL3_uc010hco.1_Missense_Mutation_p.S340R|TTLL3_uc003bth.3_Missense_Mutation_p.S192R|TTLL3_uc011atj.1_Missense_Mutation_p.S340R|TTLL3_uc003btj.3_Missense_Mutation_p.S192R|TTLL3_uc003bti.3_Missense_Mutation_p.S192R	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	404	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			large_intestine(2)	2	Medulloblastoma(99;0.227)					CATGTGGTCTAGCCAGAGGTT	0.577													C	9870735	A	C	9870735	3	2	74	1	0	0	0	0	1	0	0	0	16725	420	15	5	1244	5	TTLL3	3	9870735	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1061055	9870735	188151695	301	50572											
ATP2B2	491	broad.mit.edu	37	chr3	10392233	10392233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggaccgtgatgcctgccCgctggcacttgcggatggct	15	13	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:10392233C>T	uc003bvt.2	-	15	2604	c.2165G>A	c.(2164-2166)CGG>CAG	p.R722Q	ATP2B2_uc003bvv.2_Missense_Mutation_p.R677Q|ATP2B2_uc003bvw.2_Missense_Mutation_p.R677Q|ATP2B2_uc010hdo.2_Missense_Mutation_p.R427Q	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	722	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GATGCCTGCCCGCTGGCACTT	0.632													T	10392233	C	T	10392233	3	4	74	1	0	0	0	0	1	0	0	0	1140	652	23	1	1602	1	ATP2B2	3	10392233	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	521498	10392233	187630197	302	50573											
SYN2	6854	broad.mit.edu	37	chr3	12187285	12187285	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtatgcaggcctccccAgcatcaactcactggaatcc	8	15	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:12187285A>G	uc003bwm.2	+	8	798	c.634A>G	c.(634-636)AGC>GGC	p.S212G	SYN2_uc003bwl.1_Missense_Mutation_p.S212G	NM_133625	NP_598328	Q92777	SYN2_HUMAN	synapsin II isoform IIa	212					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			ovary(1)|central_nervous_system(1)	2						AGGCCTCCCCAGCATCAACTC	0.552													G	12187285	A	G	12187285	3	3	74	1	0	0	0	0	1	0	0	0	15438	188	7	3	649	3	SYN2	3	12187285	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1795052	12187285	185835145	303	50574											
FGD5	152273	broad.mit.edu	37	chr3	14862557	14862557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagcgcttcctggcactgaCgtttaagaagaagacggaga	12	8	0	5			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:14862557C>T	uc003bzc.2	+	1	2089	c.1979C>T	c.(1978-1980)ACG>ATG	p.T660M	FGD5_uc011avk.1_Missense_Mutation_p.T660M	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	660					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						CTGGCACTGACGTTTAAGAAG	0.507													T	14862557	C	T	14862557	3	4	74	1	0	0	0	0	1	0	0	0	5836	536	19	1	1981	1	FGD5	3	14862557	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2675272	14862557	183159873	304	50575											
ANKRD28	23243	broad.mit.edu	37	chr3	15726870	15726870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagacaggtgtataggcGtccggcccctgctatcccga	12	14	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:15726870G>A	uc003caj.1	-	21	2305	c.2162C>T	c.(2161-2163)ACG>ATG	p.T721M	ANKRD28_uc003cai.1_Missense_Mutation_p.T567M|ANKRD28_uc011avz.1_Missense_Mutation_p.T567M|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.T751M|ANKRD28_uc003cam.2_Missense_Mutation_p.T754M	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	721	ANK 21.					nucleoplasm	protein binding			breast(1)	1						GTGTATAGGCGTCCGGCCCCT	0.473													A	15726870	G	A	15726870	3	1	74	1	0	0	0	0	1	0	0	0	656	1145	40	1	1031	1	ANKRD28	3	15726870	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	864313	15726870	182295560	305	50576											
PLCL2	23228	broad.mit.edu	37	chr3	17056204	17056204	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcattccatttaacagaatgCggtggtgtcattcaaggagc	10	8	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:17056204C>A	uc011awc.1	+	6	2900	c.2795C>A	c.(2794-2796)GCG>GAG	p.A932E	PLCL2_uc011awd.1_Missense_Mutation_p.A814E	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 1	940					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(2)|ovary(1)|lung(1)	4						TAACAGAATGCGGTGGTGTCA	0.453													A	17056204	C	A	17056204	3	1	74	1	0	0	0	0	1	0	0	0	12040	768	27	5	2823	5	PLCL2	3	17056204	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1329334	17056204	180966226	306	50577											
KCNH8	131096	broad.mit.edu	37	chr3	19384076	19384079	+	Splice_Site	DEL	CAGA	CAGA	-													taatgagttttattttccccCagacaaagtcaaaggaagat							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:19384076_19384079delCAGA	uc003cbk.1	+	4	638	c.443_splice	c.e4-1	p.D148_splice	KCNH8_uc011awe.1_Splice_Site_p.D148_splice|KCNH8_uc010hex.1_Splice_Site	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,							integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						TATTTTCCCCCAGACAAAGTCAAA	0.446													-	19384079	CAGA	-	19384076	8	5	74	1	0	1	0	1	0	0	1	0	8038	609	21	0		0	KCNH8	3	19384076	Splice_Site	DEL	CAGA	TCGA-BR-8361-01A-11D-2340-08	2327872	19384076	178638354	307	50578											
KCNH8	131096	broad.mit.edu	37	chr3	19389422	19389422	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaactcggagcacaaccgTcagtgacattgcagtggaga	11	11	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:19389422T>C	uc003cbk.1	+	5	971	c.776T>C	c.(775-777)GTC>GCC	p.V259A	KCNH8_uc011awe.1_Missense_Mutation_p.V259A|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	259	Helical; Name=Segment S2; (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						AGCACAACCGTCAGTGACATT	0.403													C	19389422	T	C	19389422	3	2	74	1	0	0	0	0	1	0	0	0	8038	1667	58	3	794	3	KCNH8	3	19389422	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	5346	19389422	178633008	308	50579											
SGOL1	151648	broad.mit.edu	37	chr3	20212216	20212216	+	Frame_Shift_Del	DEL	T	T	-													tcattgtatttgtttcatacTttttttagaacgtctcaaat							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:20212216delT	uc003cbs.2	-	8	1751	c.1564delA	c.(1564-1566)AGAfs	p.R522fs	SGOL1_uc003cbr.2_Frame_Shift_Del_p.R253fs|SGOL1_uc010hfa.2_Intron|SGOL1_uc003cbt.2_Frame_Shift_Del_p.R270fs|SGOL1_uc003cbu.2_Frame_Shift_Del_p.R522fs|SGOL1_uc003cbv.2_Frame_Shift_Del_p.R270fs|SGOL1_uc003cbw.2_Frame_Shift_Del_p.R253fs|SGOL1_uc003cbx.2_Frame_Shift_Del_p.S270fs|SGOL1_uc003cby.2_Frame_Shift_Del_p.S253fs|SGOL1_uc003cbz.2_Frame_Shift_Del_p.S522fs|SGOL1_uc003cca.2_Frame_Shift_Del_p.S522fs|SGOL1_uc003ccb.2_Frame_Shift_Del_p.S270fs|SGOL1_uc003ccc.2_Frame_Shift_Del_p.S253fs	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 isoform A2	522					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding				0						TGTTTCATACTTTTTTTAGAA	0.343													-	20212216	T	-	20212216	7	5	74	1	0	1	0	1	0	0	0	0	14216	1623	56	0	149	0	SGOL1	3	20212216	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	822794	20212216	177810214	309	50580											
LRRC3B	116135	broad.mit.edu	37	chr3	26751645	26751645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagttctgaggagcatggCgtccaatcatgagacagccc	12	11	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:26751645C>T	uc003cdp.2	+	2	1071	c.482C>T	c.(481-483)GCG>GTG	p.A161V	LRRC3B_uc003cdq.2_Missense_Mutation_p.A161V	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B precursor	161	LRRCT.					integral to membrane				pancreas(2)|ovary(1)|skin(1)	4						AGGAGCATGGCGTCCAATCAT	0.517													T	26751645	C	T	26751645	3	4	74	1	0	0	0	0	1	0	0	0	8996	768	27	1	484	1	LRRC3B	3	26751645	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	6539429	26751645	171270785	310	50581											
NEK10	152110	broad.mit.edu	37	chr3	27152802	27152802	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttggtcccccatggataGgaatgatacctataagattc	8	9	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:27152802G>T	uc010hfk.2	-	17	1645	c.1416C>A	c.(1414-1416)TCC>TCA	p.S472S	NEK10_uc010hfj.2_Silent_p.S415S			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	1160							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						CCCATGGATAGGAATGATACC	0.368													T	27152802	G	T	27152802	2	4	74	1	0	0	0	0	0	0	0	1	10322	1015	35	5		5	NEK10	3	27152802	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	401157	27152802	170869628	311	50582											
SLC4A7	9497	broad.mit.edu	37	chr3	27436549	27436549	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatagcagctattaataaggTccaccaaggattatctccca	6	10	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:27436549T>G	uc003cdv.2	-	19	2805	c.2734A>C	c.(2734-2736)ACC>CCC	p.T912P	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.T793P|SLC4A7_uc011aww.1_Missense_Mutation_p.T921P|SLC4A7_uc011awx.1_Missense_Mutation_p.T908P|SLC4A7_uc011awy.1_Missense_Mutation_p.T904P|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.T793P|SLC4A7_uc011axb.1_Missense_Mutation_p.T908P|SLC4A7_uc010hfl.2_Missense_Mutation_p.T462P|SLC4A7_uc003cdw.2_Missense_Mutation_p.T788P	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	912	Helical; (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						ATTAATAAGGTCCACCAAGGA	0.363													G	27436549	T	G	27436549	3	3	74	1	0	0	0	0	1	0	0	0	14658	1667	58	5	938	5	SLC4A7	3	27436549	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	283747	27436549	170585881	312	50583											
SLC4A7	9497	broad.mit.edu	37	chr3	27460079	27460079	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aattcatcaattccagataaGaggtcatttctgtcttttgc	6	8	5	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:27460079G>C	uc003cdv.2	-	11	1601	c.1530C>G	c.(1528-1530)CTC>CTG	p.L510L	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Silent_p.L391L|SLC4A7_uc011aww.1_Silent_p.L519L|SLC4A7_uc011awx.1_Silent_p.L506L|SLC4A7_uc011awy.1_Silent_p.L502L|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Silent_p.L391L|SLC4A7_uc011axb.1_Silent_p.L506L|SLC4A7_uc010hfl.2_Silent_p.L60L|SLC4A7_uc003cdw.2_Silent_p.L386L	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	510	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						TTCCAGATAAGAGGTCATTTC	0.333													C	27460079	G	C	27460079	2	2	74	1	0	0	0	0	0	0	0	1	14658	929	33	5		5	SLC4A7	3	27460079	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	23530	27460079	170562351	313	50584											
SLC4A7	9497	broad.mit.edu	37	chr3	27465559	27465559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacagtactattttctctgCttccaccacttccattacct	2	15	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:27465559C>T	uc003cdv.2	-	8	1279	c.1208G>A	c.(1207-1209)AGC>AAC	p.S403N	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.S284N|SLC4A7_uc011aww.1_Missense_Mutation_p.S412N|SLC4A7_uc011awx.1_Missense_Mutation_p.S399N|SLC4A7_uc011awy.1_Missense_Mutation_p.S395N|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.S284N|SLC4A7_uc011axb.1_Missense_Mutation_p.S399N|SLC4A7_uc010hfm.2_Missense_Mutation_p.S284N|SLC4A7_uc010hfl.2_Missense_Mutation_p.A6T|SLC4A7_uc003cdw.2_Missense_Mutation_p.S279N	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	403	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						ATTTTCTCTGCTTCCACCACT	0.353													T	27465559	C	T	27465559	3	4	74	1	0	0	0	0	1	0	0	0	14658	797	28	2	2508	2	SLC4A7	3	27465559	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	5480	27465559	170556871	314	50585											
TRIM71	131405	broad.mit.edu	37	chr3	32859698	32859698	+	Frame_Shift_Del	DEL	G	G	-													tcgcagacgtccacgtcgtcGgggggcggcggcgggggccc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:32859697_32859697CG>C	uc003cff.3	+	0	188	c.125_125CG>C	c.(124-126)tcgfs	p.S42fs		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	42	Ser-rich.				multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCACGTCGTcggggggcggc	0.741													-	32859698	G	-	32859698	7	5	74	1	0	1	0	1	0	0	0	0	16541	1103	39	0	128	0	TRIM71	3	32859698	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	5394139	32859698	165162732	315	50586											
GLB1	2720	broad.mit.edu	37	chr3	33110382	33110382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccagctcatgagccagcCgaagaaaatattccacatca	7	13	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:33110382C>T	uc003cfi.1	-	3	443	c.326G>A	c.(325-327)CGG>CAG	p.R109Q	GLB1_uc003cfh.1_Missense_Mutation_p.R79Q|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Missense_Mutation_p.R157Q	NM_000404	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1 isoform a preproprotein	109					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			large_intestine(1)	1		Melanoma(143;0.104)				ATGAGCCAGCCGAAGAAAATA	0.552													T	33110382	C	T	33110382	3	4	74	1	0	0	0	0	1	0	0	0	6427	652	23	1	1763	1	GLB1	3	33110382	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	250684	33110382	164912048	316	50587											
SUSD5	26032	broad.mit.edu	37	chr3	33255514	33255514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgcagatgccaggtgagCgcccctgctcttgcaggaaa	13	12	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:33255514C>T	uc003cfo.1	-	2	614	c.196G>A	c.(196-198)GCT>ACT	p.A66T		NM_015551	NP_056366	O60279	SUSD5_HUMAN	sushi domain containing 5 precursor	66	Extracellular (Potential).|Link.				cell adhesion	integral to membrane	hyaluronic acid binding			ovary(1)|central_nervous_system(1)	2						GCCAGGTGAGCGCCCCTGCTC	0.562													T	33255514	C	T	33255514	3	4	74	1	0	0	0	0	1	0	0	0	15408	768	27	1	1709	1	SUSD5	3	33255514	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	145132	33255514	164766916	317	50588											
CLASP2	23122	broad.mit.edu	37	chr3	33602361	33602362	+	Frame_Shift_Ins	INS	-	-	T													ccaagcaaatcagcacccatINStttttttagtagttgtgtca					rs76701586		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:33602360_33602361A>AT	uc021wvc.1	-	27	3104_3105	c.2893_2894T>AT	c.(2893-2895)atgfs	p.M965fs	CLASP2_uc003cfs.3_Frame_Shift_Ins_p.M164fs|CLASP2_uc021wva.1_Frame_Shift_Ins_p.M39fs|CLASP2_uc021wvb.1_Frame_Shift_Ins_p.M744fs|CLASP2_uc011axt.1_Frame_Shift_Ins_p.M557fs	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	966										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ATCAGCACCCATTTTTTTTAGT	0.342													T	33602362	-	T	33602361	7	5	74	1	0	1	1	0	0	0	0	0	3455	1493	52	0	1699	0	CLASP2	3	33602361	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	346847	33602361	164420069	318	50589											
DCLK3	85443	broad.mit.edu	37	chr3	36779387	36779387	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacctccctcagccccTcctctgtgacaggaagaact	6	17	4	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:36779387T>C	uc003cgi.2	-	2	1255	c.764A>G	c.(763-765)GAG>GGG	p.E255G		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	255						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						CCTCAGCCCCTCCTCTGTGAC	0.582													C	36779387	T	C	36779387	3	2	74	1	0	0	0	0	1	0	0	0	4293	1551	54	3	1198	3	DCLK3	3	36779387	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	3177026	36779387	161243043	319	50590											
ITGA9	3680	broad.mit.edu	37	chr3	37670704	37670704	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgcaggacgtcatcagcccGatcgtgtttgaagcagccta	12	11	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:37670704G>A	uc003chd.2	+	16	1769	c.1716G>A	c.(1714-1716)CCG>CCA	p.P572P	ITGA9_uc003chc.2_Silent_p.P572P	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	572	Extracellular (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TCATCAGCCCGATCGTGTTTG	0.418													A	37670704	G	A	37670704	2	1	74	1	0	0	0	0	0	0	0	1	7883	1045	37	1		1	ITGA9	3	37670704	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	891317	37670704	160351726	320	50591											
VILL	50853	broad.mit.edu	37	chr3	38044690	38044690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcagcgtgagatggcacGggtggtggtcactgtcattt	15	7	3	2	rs144181954		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:38044690G>A	uc003chj.2	+	15	1977	c.1691G>A	c.(1690-1692)CGG>CAG	p.R564Q	VILL_uc003chl.2_Missense_Mutation_p.R564Q	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	564					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GAGATGGCACGGGTGGTGGTC	0.632													A	38044690	G	A	38044690	3	1	74	1	0	0	0	0	1	0	0	0	17162	1116	39	1	1745	1	VILL	3	38044690	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	373986	38044690	159977740	321	50592											
ACAA1	30	broad.mit.edu	37	chr3	38170828	38170828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccttctccatcaagcgCgaagtaatatttccagggtt	7	11	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:38170828C>T	uc003cht.2	-	6	705	c.498G>A	c.(496-498)TCG>TCA	p.S166S	ACAA1_uc003chu.2_Intron|ACAA1_uc010hgy.2_Silent_p.S125S|ACAA1_uc010hgz.2_Silent_p.S166S|ACAA1_uc003chv.2_Silent_p.S14S	NM_001607	NP_001598	P09110	THIK_HUMAN	acetyl-Coenzyme A acyltransferase 1 isoform a	166					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CCATCAAGCGCGAAGTAATAT	0.572													T	38170828	C	T	38170828	2	4	74	1	0	0	0	0	0	0	0	1	104	755	27	1		1	ACAA1	3	38170828	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	126138	38170828	159851602	322	50593											
ACVR2B	93	broad.mit.edu	37	chr3	38523799	38523799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggggttggtgctgtgggaGcttgtgtctcgctgcaaggc	18	7	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:38523799G>A	uc003cif.2	+	9	1209	c.1185G>A	c.(1183-1185)GAG>GAA	p.E395E	ACVR2B_uc003cig.2_Silent_p.E186E	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	395	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		TGCTGTGGGAGCTTGTGTCTC	0.567													A	38523799	G	A	38523799	2	1	74	1	0	0	0	0	0	0	0	1	224	962	34	2		2	ACVR2B	3	38523799	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	352971	38523799	159498631	323	50594											
EXOG	9941	broad.mit.edu	37	chr3	38565660	38565662	+	In_Frame_Del	DEL	AGG	AGG	-													ctgtaagctcctggatttccAggagttcaccttgtacttga							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:38565659_38565661CAGG>C	uc003cih.2	+	5	1009_1011	c.913_915CAGG>C	c.(913-915)cag>C	p.Q305del	EXOG_uc010hhg.3_Non-coding_Transcript|EXOG_uc010hhf.2_In_Frame_Del_p.Q165del|EXOG_uc003cii.2_In_Frame_Del_p.Q165del|EXOG_uc011ayq.1_In_Frame_Del_p.Q255del|EXOG_uc003cij.2_In_Frame_Del_p.Q165del|EXOG_uc010hhd.2_In_Frame_Del_p.Q165del|EXOG_uc010hhe.2_In_Frame_Del_p.Q165del|EXOG_uc003cik.2_In_Frame_Del_p.Q165del	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN	Homo sapiens endo/exonuclease (5'-3'), endonuclease G-like (EXOG), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	305						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						CCTGGATTTCCAGGAGTTCACCT	0.433													-	38565662	AGG	-	38565660	7	5	74	1	0	1	0	1	0	0	0	0	5312	188	7	0	936	0	EXOG	3	38565660	In_Frame_Del	DEL	AGG	TCGA-BR-8361-01A-11D-2340-08	41861	38565660	159456770	324	50595											
SCN5A	6331	broad.mit.edu	37	chr3	38592894	38592894	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcccgatgttgaagaGggcaggcagggacatcatga	15	9	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:38592894G>T	uc003cio.2	-	28	5163	c.4969C>A	c.(4969-4971)CTC>ATC	p.L1657I	SCN5A_uc003cin.2_Missense_Mutation_p.L1656I|SCN5A_uc003cil.3_Missense_Mutation_p.L1657I|SCN5A_uc010hhi.2_Missense_Mutation_p.L1639I|SCN5A_uc010hhk.2_Missense_Mutation_p.L1624I|SCN5A_uc011ayr.1_Missense_Mutation_p.L1603I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1657				L -> P (in Ref. 6; ABR15763/ABR15764).	blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ATGTTGAAGAGGGCAGGCAGG	0.582													T	38592894	G	T	38592894	3	4	74	1	0	0	0	0	1	0	0	0	13922	1000	35	5	1085	5	SCN5A	3	38592894	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	27234	38592894	159429536	325	50596											
SCN5A	6331	broad.mit.edu	37	chr3	38671808	38671808	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgcaaaggatatgagtgaAccagaatcttcacagccgct	9	10	2	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:38671808A>G	uc003cio.2	-	3	580	c.386T>C	c.(385-387)GTT>GCT	p.V129A	SCN5A_uc003cin.2_Missense_Mutation_p.V129A|SCN5A_uc003cil.3_Missense_Mutation_p.V129A|SCN5A_uc010hhi.2_Missense_Mutation_p.V129A|SCN5A_uc010hhk.2_Missense_Mutation_p.V129A|SCN5A_uc011ayr.1_Missense_Mutation_p.V129A	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	129	Helical; Name=S1 of repeat I; (Potential).				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ATATGAGTGAACCAGAATCTT	0.557													G	38671808	A	G	38671808	3	3	74	1	0	0	0	0	1	0	0	0	13922	43	2	3	5864	3	SCN5A	3	38671808	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	78914	38671808	159350622	326	50597											
SCN11A	11280	broad.mit.edu	37	chr3	38924806	38924806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatttggtagcaggttttcCgcaggttccaccaaatgacc	9	11	0	1	rs147061364	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:38924806C>T	uc011ays.1	-	18	3336	c.3137G>A	c.(3136-3138)CGG>CAG	p.R1046Q	SCN11A_uc010hhn.1_Missense_Mutation_p.R124Q	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1046					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCAGGTTTTCCGCAGGTTCCA	0.453													T	38924806	C	T	38924806	3	4	74	1	0	0	0	0	1	0	0	0	13913	652	23	1	2274	1	SCN11A	3	38924806	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	252998	38924806	159097624	327	50598											
XIRP1	165904	broad.mit.edu	37	chr3	39226595	39226595	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggaaccttccatgggctGctctcctgaggggccggggc	17	12	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:39226595G>A	uc003cjk.1	-	2	4563	c.4342C>T	c.(4342-4344)CAG>TAG	p.Q1448*	XIRP1_uc003cji.2_3'UTR|XIRP1_uc003cjj.2_Nonsense_Mutation_p.Q131*	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1448							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCCATGGGCTGCTCTCCTGAG	0.627													A	39226595	G	A	39226595	4	1	74	1	0	0	0	0	0	1	0	0	17426	1328	46	2	1193	2	XIRP1	3	39226595	Nonsense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	301789	39226595	158795835	328	50599											
RPSA	3921	broad.mit.edu	37	chr3	39453198	39453198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggaagttctgcgcatgcGtggcaccatttcccgtgaac	12	12	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:39453198G>A	uc003cjp.2	+	5	642	c.557G>A	c.(556-558)CGT>CAT	p.R186H	RPSA_uc003cjq.2_Missense_Mutation_p.R191H|RPSA_uc003cjr.2_Missense_Mutation_p.R186H|RPSA_uc003cjt.2_RNA	NM_002295	NP_002286	P08865	RSSA_HUMAN	ribosomal protein SA	186					cell adhesion|endocrine pancreas development|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 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			lung(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CTGCGCATGCGTGGCACCATT	0.502													A	39453198	G	A	39453198	3	1	74	1	0	0	0	0	1	0	0	0	13663	1145	40	1	571	1	RPSA	3	39453198	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	226603	39453198	158569232	329	50600											
CCBP2	1238	broad.mit.edu	37	chr3	42906947	42906947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatgccttctccagtcaccGcttccgccagtacctgaagg	9	15	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:42906947G>A	uc003cme.2	+	3	1132	c.953G>A	c.(952-954)CGC>CAC	p.R318H	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmf.2_Missense_Mutation_p.R318H|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron	NM_001296	NP_001287	O00590	CCBP2_HUMAN	chemokine binding protein 2	318	Cytoplasmic (Potential).				chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			lung(4)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TCCAGTCACCGCTTCCGCCAG	0.582													A	42906947	G	A	42906947	3	1	74	1	0	0	0	0	1	0	0	0	2734	1087	38	1	955	1	CCBP2	3	42906947	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	3453749	42906947	155115483	330	50601											
ZNF35	7584	broad.mit.edu	37	chr3	44692631	44692631	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgaaaaaggaggaggaAgaagaagaaaacttcccagg	14	4	0	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:44692631A>G	uc003cnq.2	+	2	293	c.72A>G	c.(70-72)GAA>GAG	p.E24E	ZNF35_uc003cnr.2_5'UTR	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	24	Globular domain.|Poly-Glu.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		AGGAGGAGGAAGAAGAAGAAA	0.537													G	44692631	A	G	44692631	2	3	74	1	0	0	0	0	0	0	0	1	17859	69	3	3		3	ZNF35	3	44692631	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1785684	44692631	153329799	331	50602											
KIF15	56992	broad.mit.edu	37	chr3	44893702	44893702	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggattgattacctgcaggaGatggaaatgttaaggaagca	13	4	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:44893702G>C	uc003cnx.3	+	34	4124	c.3975G>C	c.(3973-3975)GAG>GAC	p.E1325D	KIF15_uc010hiq.2_Missense_Mutation_p.E1228D|KIF15_uc010hir.2_Missense_Mutation_p.E373D	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	1325	Potential.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		ACCTGCAGGAGATGGAAATGT	0.413													C	44893702	G	C	44893702	3	2	74	1	0	0	0	0	1	0	0	0	8277	933	33	5	4109	5	KIF15	3	44893702	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	201071	44893702	153128728	332	50603											
ALS2CL	259173	broad.mit.edu	37	chr3	46722846	46722846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcaaggaccccaaatccGtgccgcaggccctcctggaa	9	17	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:46722846G>A	uc003cqa.1	-	13	1516	c.1326C>T	c.(1324-1326)CAC>CAT	p.H442H	ALS2CL_uc003cpz.1_Translation_Start_Site|ALS2CL_uc003cqb.1_Silent_p.H442H|ALS2CL_uc003cqc.1_RNA	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1	442	MORN 4.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CCCCAAATCCGTGCCGCAGGC	0.647													A	46722846	G	A	46722846	2	1	74	1	0	0	0	0	0	0	0	1	551	1136	40	1		1	ALS2CL	3	46722846	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1829144	46722846	151299584	333	50604											
NBEAL2	23218	broad.mit.edu	37	chr3	47049819	47049819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgccgcggacagtttgtagCggcactacggcctctgggtg	15	12	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:47049819C>T	uc003cqp.2	+	51	7945	c.7766C>T	c.(7765-7767)GCG>GTG	p.A2589V	NBEAL2_uc010hjm.1_Missense_Mutation_p.A1966V|NBEAL2_uc010hjn.1_Missense_Mutation_p.A955V|NBEAL2_uc010hjo.1_Missense_Mutation_p.A149V	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2589	WD 4.						binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAGTTTGTAGCGGCACTACGG	0.582													T	47049819	C	T	47049819	3	4	74	1	0	0	0	0	1	0	0	0	10189	768	27	1	7968	1	NBEAL2	3	47049819	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	326973	47049819	150972611	334	50605											
SETD2	29072	broad.mit.edu	37	chr3	47061333	47061333	+	Splice_Site	DEL	A	A	-													cttgggctttttcgaggcctAaaaatggaggagaaaacaca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:47061332_47061332TA>T	uc003cqv.3	-	20	7638	c.7552_splice	c.e20-1	p.A2518_splice	SETD2_uc003cqs.3_Splice_Site_p.A2451_splice|SETD2_uc003cqr.3_Splice_Site_p.A50_splice	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	2451	Interaction with POLR2A.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTTCGAGGCCTAAAAATGGAG	0.463			"N, F, S, Mis"		clear cell renal carcinoma								-	47061333	A	-	47061333	8	5	74	1	0	1	0	1	0	0	1	0	14131	377	13	0		0	SETD2	3	47061333	Splice_Site	DEL	A	TCGA-BR-8361-01A-11D-2340-08	11514	47061333	150961097	335	50606											
PTPN23	25930	broad.mit.edu	37	chr3	47449901	47449901	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgatgcctacagccacatCccaccccagctcatggagaa	7	16	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:47449901C>T	uc003crf.1	+	15	1347	c.1251C>T	c.(1249-1251)ATC>ATT	p.I417I	PTPN23_uc011baw.1_Silent_p.I382I|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Silent_p.I287I	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	417					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACAGCCACATCCCACCCCAGC	0.597													T	47449901	C	T	47449901	2	4	74	1	0	0	0	0	0	0	0	1	12788	845	30	4		4	PTPN23	3	47449901	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	388568	47449901	150572529	336	50607											
ATRIP	84126	broad.mit.edu	37	chr3	48501288	48501288	+	Frame_Shift_Del	DEL	C	C	-													ttctgagtctcctgctggcaCccccctgcagccaccagggt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:48501287_48501287AC>A	uc003ctf.1	+	6	1059	c.1027_1027AC>A	c.(1027-1029)accfs	p.T343fs	ATRIP_uc011bbj.1_Frame_Shift_Del_p.T216fs|ATRIP_uc003ctg.1_Frame_Shift_Del_p.T343fs|TREX1_uc010hjy.3_5'UTR	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	Homo sapiens ATR interacting protein (ATRIP), transcript variant 1, mRNA.	343				T -> A (in Ref. 2; BAF84257).	DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCTGCTGGCACCCCCCTGCA	0.532								Other conserved DNA damage response genes					-	48501288	C	-	48501288	7	5	74	1	0	1	0	1	0	0	0	0	1205	507	18	0	1054	0	ATRIP	3	48501288	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	1051387	48501288	149521142	337	50608											
COL7A1	1294	broad.mit.edu	37	chr3	48608692	48608692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataccttgaaacctttgggtCctggagcccctttctgaccc	8	14	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:48608692C>T	uc003ctz.2	-	92	7089	c.7088G>A	c.(7087-7089)GGA>GAA	p.G2363E		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2363	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCTTTGGGTCCTGGAGCCCC	0.527													T	48608692	C	T	48608692	3	4	74	1	0	0	0	0	1	0	0	0	3704	855	30	4	1854	4	COL7A1	3	48608692	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	107404	48608692	149413738	338	50609											
COL7A1	1294	broad.mit.edu	37	chr3	48630567	48630567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcacgccaccagcagtcGtgcacactctccgggaaacg	11	16	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:48630567G>A	uc003ctz.2	-	5	651	c.650C>T	c.(649-651)ACG>ATG	p.T217M		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	217	Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCAGCAGTCGTGCACACTCT	0.592													A	48630567	G	A	48630567	3	1	74	1	0	0	0	0	1	0	0	0	3704	1145	40	1	8640	1	COL7A1	3	48630567	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	21875	48630567	149391863	339	50610											
CELSR3	1951	broad.mit.edu	37	chr3	48694579	48694579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccccctacgtctgtgtcGttctggatgttgaagatgaa	12	9	2	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:48694579G>A	uc003cul.2	-	2	4232	c.3951C>T	c.(3949-3951)AAC>AAT	p.N1317N	CELSR3_uc003cuf.1_Silent_p.N1387N	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1317	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGTCTGTGTCGTTCTGGATGT	0.667													A	48694579	G	A	48694579	2	1	74	1	0	0	0	0	0	0	0	1	3223	1136	40	1		1	CELSR3	3	48694579	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	64012	48694579	149327851	340	50611											
IMPDH2	3615	broad.mit.edu	37	chr3	49064248	49064248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaggctagtgggtagtcccGattcttcttcaggtctgtcc	13	10	4	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:49064248G>A	uc003cvt.2	-	7	783	c.691C>T	c.(691-693)CGG>TGG	p.R231W		NM_000884	NP_000875	P12268	IMDH2_HUMAN	inosine monophosphate dehydrogenase 2	231	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	GGGTAGTCCCGATTCTTCTTC	0.517													A	49064248	G	A	49064248	3	1	74	1	0	0	0	0	1	0	0	0	7727	1057	37	1	885	1	IMPDH2	3	49064248	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	369669	49064248	148958182	341	50612											
BSN	8927	broad.mit.edu	37	chr3	49694041	49694041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagtggggccctcagccGgccagggttcgagaaagagg	18	10	1	2	rs147218044	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:49694041G>A	uc003cxe.3	+	5	7166	c.7052G>A	c.(7051-7053)CGG>CAG	p.R2351Q		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2351	Potential.				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCCCTCAGCCGGCCAGGGTTC	0.652													A	49694041	G	A	49694041	3	1	74	1	0	0	0	0	1	0	0	0	1530	1116	39	1	7070	1	BSN	3	49694041	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	629793	49694041	148328389	342	50613											
MST1	4485	broad.mit.edu	37	chr3	49724498	49724498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccattgcaccagacacacgCggctggagacaaagagccag	12	13	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:49724498C>T	uc003cxg.2	-	6	682	c.610G>A	c.(610-612)GCG>ACG	p.A204T	MST1_uc011bcs.1_Missense_Mutation_p.A204T|MST1_uc010hkx.2_Missense_Mutation_p.A125T|MST1_uc011bct.1_Missense_Mutation_p.A204T|MST1_uc011bcu.1_RNA|RNF123_uc003cxh.2_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	190					proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGACACACGCGGCTGGAGAC	0.657													T	49724498	C	T	49724498	3	4	74	1	0	0	0	0	1	0	0	0	9890	768	27	1	1619	1	MST1	3	49724498	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	30457	49724498	148297932	343	50614											
CDHR4	389118	broad.mit.edu	37	chr3	49836868	49836868	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagcagggcaggctgcagaGgtctgtgaagagcagagaat	16	6	1	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:49836868G>T	uc010hkz.2	-	2	61	c.52C>A	c.(52-54)CTC>ATC	p.L18I	CDHR4_uc003cxp.2_Missense_Mutation_p.L18I|CDHR4_uc011bcw.1_Missense_Mutation_p.L18I	NM_001007540	NP_001007541	A6H8M9	CDHR4_HUMAN	cadherin-like 29 precursor	18	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						AGGCTGCAGAGGTCTGTGAAG	0.557													T	49836868	G	T	49836868	3	4	74	1	0	0	0	0	1	0	0	0	3121	1000	35	5	2386	5	CDHR4	3	49836868	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	112370	49836868	148185562	344	50615											
SLC38A3	10991	broad.mit.edu	37	chr3	50253036	50253036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccccaggaaagctggcagCagccctggccatcacgctcc	11	17	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:50253036C>T	uc003cyn.3	+	6	575	c.434C>T	c.(433-435)GCA>GTA	p.A145V	SLC38A3_uc011bdl.1_Missense_Mutation_p.A120V|SLC38A3_uc011bdm.1_Missense_Mutation_p.A76V	NM_006841	NP_006832	Q99624	S38A3_HUMAN	solute carrier family 38, member 3	145	Helical; (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	AAGCTGGCAGCAGCCCTGGCC	0.622													T	50253036	C	T	50253036	3	4	74	1	0	0	0	0	1	0	0	0	14605	710	25	2	452	2	SLC38A3	3	50253036	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	416168	50253036	147769394	345	50616											
HYAL2	8692	broad.mit.edu	37	chr3	50355798	50355798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcatggccaggcactaggCggaaactgttggtgctgaga	16	8	0	1	rs143678537		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:50355798C>T	uc003czu.2	-	4	1404	c.1184G>A	c.(1183-1185)CGC>CAC	p.R395H	HYAL2_uc003czx.2_Missense_Mutation_p.R395H|HYAL2_uc003czv.2_Missense_Mutation_p.R395H|HYAL2_uc003czw.2_Missense_Mutation_p.R395H	NM_033158	NP_149348	Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2 precursor	395	EGF-like.					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	AGGCACTAGGCGGAAACTGTT	0.632													T	50355798	C	T	50355798	3	4	74	1	0	0	0	0	1	0	0	0	7464	768	27	1	241	1	HYAL2	3	50355798	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	102762	50355798	147666632	346	50617											
GRM2	2912	broad.mit.edu	37	chr3	51749521	51749521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcaccatcgcctgcctcGgtgccctggccaccctcttt	8	19	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:51749521G>A	uc010hlv.2	+	4	1971	c.1732G>A	c.(1732-1734)GGT>AGT	p.G578S	GRM2_uc003dbo.3_5'UTR|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	578	Helical; Name=1; (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CGCCTGCCTCGGTGCCCTGGC	0.642													A	51749521	G	A	51749521	3	1	74	1	0	0	0	0	1	0	0	0	6797	1116	39	1	1742	1	GRM2	3	51749521	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1393723	51749521	146272909	347	50618											
PCBP4	57060	broad.mit.edu	37	chr3	51992261	51992261	+	Frame_Shift_Del	DEL	G	G	-													agggtgtgcccagcaggccaGggggagctgtgggcagggcc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:51992260_51992260AG>A	uc003dcc.2	-	9	1813	c.1092_1092CT>T	c.(1090-1092)cctfs	p.P364fs	PCBP4_uc003dcb.2_Frame_Shift_Del_p.P309fs|PCBP4_uc003dcf.2_Frame_Shift_Del_p.P343fs|PCBP4_uc003dce.2_Frame_Shift_Del_p.W345fs|PCBP4_uc003dcg.2_Frame_Shift_Del_p.P309fs|PCBP4_uc003dcj.2_Frame_Shift_Del_p.P343fs|PCBP4_uc003dck.2_Frame_Shift_Del_p.P300fs|PCBP4_uc003dch.2_Frame_Shift_Del_p.P343fs|PCBP4_uc003dci.2_Frame_Shift_Del_p.P183fs			P57723	PCBP4_HUMAN	Homo sapiens poly(rC) binding protein 4 (PCBP4), transcript variant 4, mRNA.	343						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCAGCAGGCCAGGGGGAGCTG	0.687													-	51992261	G	-	51992261	7	5	74	1	0	1	0	1	0	0	0	0	11503	1000	35	0	187	0	PCBP4	3	51992261	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	242740	51992261	146030169	348	50619											
DNAH1	25981	broad.mit.edu	37	chr3	52406352	52406352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctcaccttctcagcccGcacttcagccaaccagaccc	4	21	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:52406352G>A	uc011bef.1	+	43	7037	c.6776G>A	c.(6775-6777)CGC>CAC	p.R2259H		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2259	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTCTCAGCCCGCACTTCAGCC	0.592													A	52406352	G	A	52406352	3	1	74	1	0	0	0	0	1	0	0	0	4597	1087	38	1	6942	1	DNAH1	3	52406352	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	414091	52406352	145616078	349	50620											
BAP1	8314	broad.mit.edu	37	chr3	52442054	52442054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgcagttcaggagcaCgctcagcaaggcatgagttg	14	10	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:52442054C>T	uc003ddx.2	-	5	410	c.295G>A	c.(295-297)GTG>ATG	p.V99M	PHF7_uc003ddy.2_5'Flank|PHF7_uc003ddz.2_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	99					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TTCAGGAGCACGCTCAGCAAG	0.557			N|Mis|F|S|O		uveal melanoma|breast|NSCLC								T	52442054	C	T	52442054	3	4	74	1	0	0	0	0	1	0	0	0	1311	536	19	1	1946	1	BAP1	3	52442054	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	35702	52442054	145580376	350	50621											
STAB1	23166	broad.mit.edu	37	chr3	52547908	52547909	+	Frame_Shift_Ins	INS	-	-	C													tctgtaccaggtcttactgcINSccccccgaggggatgtgccc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:52547907_52547908G>GC	uc003dej.3	+	31	3431_3432	c.3357_3358G>GC	c.(3355-3360)ctgcccfs	p.L1119fs		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1119					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.R1122fs*37(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGGTCTTACTGCCCCCCCGAGG	0.624													C	52547909	-	C	52547908	7	5	74	1	0	1	1	0	0	0	0	0	15236	739	26	0	3484	0	STAB1	3	52547908	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	105854	52547908	145474522	351	50622											
ITIH4	3700	broad.mit.edu	37	chr3	52861195	52861195	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccttgatgatccctgggtaGgtcatgccatcgatgatcct	10	11	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:52861195G>T	uc003dfz.2	-	3	306	c.270C>A	c.(268-270)ACC>ACA	p.T90T	ITIH4_uc011bel.1_5'Flank|ITIH4_uc003dfy.2_5'Flank|ITIH4_uc011bem.1_Silent_p.T90T|ITIH4_uc011ben.1_Silent_p.T90T	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	90	VIT.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TCCCTGGGTAGGTCATGCCAT	0.612													T	52861195	G	T	52861195	2	4	74	1	0	0	0	0	0	0	0	1	7906	987	35	5		5	ITIH4	3	52861195	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	313287	52861195	145161235	352	50623											
CHDH	55349	broad.mit.edu	37	chr3	53852023	53852023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaccacggcagtgggatcGgagggctggcccatcttaca	13	13	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:53852023G>A	uc003dgz.2	-	9	2006	c.1566C>T	c.(1564-1566)TCC>TCT	p.S522S		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	choline dehydrogenase precursor	522					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			ovary(1)|central_nervous_system(1)	2		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CAGTGGGATCGGAGGGCTGGC	0.592													A	53852023	G	A	53852023	2	1	74	1	0	0	0	0	0	0	0	1	3333	1103	39	1		1	CHDH	3	53852023	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	990828	53852023	144170407	353	50624											
CACNA2D3	55799	broad.mit.edu	37	chr3	54933814	54933814	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtgttttttcttttcacaGgaccagtcaataaaagcaat	7	7	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:54933814G>T	uc003dhf.2	+	27	2417	c.2369_splice	c.e27-1	p.G790_splice	CACNA2D3_uc003dhg.1_Splice_Site_p.G696_splice|CACNA2D3_uc003dhh.1_Splice_Site|uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha							integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TCTTTTCACAGGACCAGTCAA	0.388													T	54933814	G	T	54933814	5	4	74	1	0	0	0	0	0	0	1	0	2550	1014	35	5	2474	5	CACNA2D3	3	54933814	Splice_Site	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1081791	54933814	143088616	354	50625											
ERC2	26059	broad.mit.edu	37	chr3	56052950	56052950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagagcttcctctagcgtcGccagtgcagtatctgtatta	9	11	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:56052950G>A	uc003dhr.1	-	8	2007	c.1751C>T	c.(1750-1752)GCG>GTG	p.A584V	ERC2_uc003dht.1_Missense_Mutation_p.A55V	NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	584	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CTCTAGCGTCGCCAGTGCAGT	0.468													A	56052950	G	A	56052950	3	1	74	1	0	0	0	0	1	0	0	0	5211	1087	38	1	1152	1	ERC2	3	56052950	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1119136	56052950	141969480	355	50626											
FLNB	2317	broad.mit.edu	37	chr3	58089788	58089788	+	Frame_Shift_Del	DEL	G	G	-													atacagcattgccatcacatGggggggacaccacattccaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:58089787_58089787TG>T	uc003djj.2	+	9	1750	c.1585_1585TG>T	c.(1585-1587)tggfs	p.W529fs	FLNB_uc010hne.2_Frame_Shift_Del_p.W529fs|FLNB_uc003djk.2_Frame_Shift_Del_p.W529fs|FLNB_uc010hnf.2_Frame_Shift_Del_p.W529fs|FLNB_uc003djl.2_Frame_Shift_Del_p.W360fs|FLNB_uc003djm.2_Frame_Shift_Del_p.W360fs	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	529					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGCCATCACATGGGGGGGACA	0.592													-	58089788	G	-	58089788	7	5	74	1	0	1	0	1	0	0	0	0	5934	1357	47	0	1624	0	FLNB	3	58089788	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	2036838	58089788	139932642	356	50627											
FEZF2	55079	broad.mit.edu	37	chr3	62357717	62357717	+	Frame_Shift_Del	DEL	T	T	-													cgcacacctcgcaggtgaagTttttgggcttgccatctgcg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:62357717delT	uc003dlh.2	-	1	1034	c.827delA	c.(826-828)AACfs	p.N276fs	FEZF2_uc003dli.2_Frame_Shift_Del_p.N276fs	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	276					transcription, DNA-dependent	nucleus	zinc ion binding			lung(1)	1		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GCAGGTGAAGTTTTTGGGCTT	0.677													-	62357717	T	-	62357717	7	5	74	1	0	1	0	1	0	0	0	0	5826	1725	60	0	568	0	FEZF2	3	62357717	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	4267929	62357717	135664713	357	50628											
CADPS	8618	broad.mit.edu	37	chr3	62501777	62501777	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgagaatagttgactaaCgcagcctgttccagacattt	9	10	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:62501777C>T	uc003dll.2	-	16	2898	c.2538G>A	c.(2536-2538)GCG>GCA	p.A846A	CADPS_uc003dlk.1_Silent_p.A350A|CADPS_uc003dlm.2_Silent_p.A846A|CADPS_uc003dln.2_Silent_p.A829A	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	846	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AGTTGACTAACGCAGCCTGTT	0.438													T	62501777	C	T	62501777	2	4	74	1	0	0	0	0	0	0	0	1	2570	523	19	1		1	CADPS	3	62501777	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	144060	62501777	135520653	358	50629											
PRICKLE2	166336	broad.mit.edu	37	chr3	64138947	64138947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccctccttcatgatgtagCgctggccgcccagcactgtc	9	16	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:64138947C>T	uc003dmf.2	-	6	1284	c.698G>A	c.(697-699)CGC>CAC	p.R233H		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	233	LIM zinc-binding 2.					cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CATGATGTAGCGCTGGCCGCC	0.507													T	64138947	C	T	64138947	3	4	74	1	0	0	0	0	1	0	0	0	12487	768	27	1	1848	1	PRICKLE2	3	64138947	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1637170	64138947	133883483	359	50630											
ADAMTS9	56999	broad.mit.edu	37	chr3	64526832	64526832	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactggaaaacccagcggcCgtgtaatccttccgacattg	9	12	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:64526832C>T	uc003dmg.2	-	36	5492	c.5460G>A	c.(5458-5460)ACG>ACA	p.T1820T	ADAMTS9_uc011bfo.1_Silent_p.T1792T|ADAMTS9_uc011bfp.1_Silent_p.T731T	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1820	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACCCAGCGGCCGTGTAATCCT	0.463													T	64526832	C	T	64526832	2	4	74	1	0	0	0	0	0	0	0	1	273	639	23	1		1	ADAMTS9	3	64526832	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	387885	64526832	133495598	360	50631											
FRMD4B	23150	broad.mit.edu	37	chr3	69299230	69299230	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaacttgaagatggtttcGctctctacttcgatttgccc	8	11	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:69299230G>A	uc003dnv.2	-	6	812	c.522C>T	c.(520-522)AGC>AGT	p.S174S	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnx.1_Silent_p.S120S|FRMD4B_uc011bga.1_Silent_p.S18S	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	174	FERM.					cytoplasm|cytoskeleton	binding			ovary(3)|central_nervous_system(1)	4		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		AGATGGTTTCGCTCTCTACTT	0.438													A	69299230	G	A	69299230	2	1	74	1	0	0	0	0	0	0	0	1	6052	1078	38	1		1	FRMD4B	3	69299230	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	4772398	69299230	128723200	361	50632											
MITF	4286	broad.mit.edu	37	chr3	70005622	70005622	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagttgaacgaagaagaagAtttaacataaatgaccgcat	9	5	0	5			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:70005622A>C	uc003dnz.2	+	8	1070	c.954A>C	c.(952-954)AGA>AGC	p.R318S	MITF_uc011bgb.1_Missense_Mutation_p.R266S|MITF_uc003doa.2_Missense_Mutation_p.R317S|MITF_uc003dob.2_Missense_Mutation_p.R302S|MITF_uc003dod.2_Missense_Mutation_p.R293S|MITF_uc003doe.2_Missense_Mutation_p.R211S|MITF_uc003dof.2_Missense_Mutation_p.R217S	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	324	Basic motif.		Missing (in WS2A).		melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		GAAGAAGAAGATTTAACATAA	0.363			A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome						C	70005622	A	C	70005622	3	2	74	1	0	0	0	0	1	0	0	0	9596	330	12	5	1223	5	MITF	3	70005622	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	706392	70005622	128016808	362	50633											
PDZRN3	23024	broad.mit.edu	37	chr3	73432578	73432578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtccggggattttgtgcCgtgggttaagagttcttgga	16	7	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:73432578C>T	uc003dpl.1	-	10	3235	c.3139G>A	c.(3139-3141)GGC>AGC	p.G1047S	PDZRN3_uc011bgh.1_Missense_Mutation_p.G704S|PDZRN3_uc010hoe.1_Missense_Mutation_p.G745S|PDZRN3_uc011bgf.1_Missense_Mutation_p.G764S|PDZRN3_uc011bgg.1_Missense_Mutation_p.G767S	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1047							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GATTTTGTGCCGTGGGTTAAG	0.408													T	73432578	C	T	73432578	3	4	74	1	0	0	0	0	1	0	0	0	11709	652	23	1	65	1	PDZRN3	3	73432578	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3426956	73432578	124589852	363	50634											
PROS1	5627	broad.mit.edu	37	chr3	93619652	93619652	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaccatcatcctaccttcAcaagactttgatttgagatt	4	12	2	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:93619652A>G	uc003drb.3	-	7	1064	c.723T>C	c.(721-723)TGT>TGC	p.C241C	PROS1_uc010hoo.2_Silent_p.C110C|PROS1_uc003dqz.3_Silent_p.C110C	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	241	EGF-like 3; calcium-binding (Potential).		C -> S (in PROS1D).		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TCCTACCTTCACAAGACTTTG	0.433													G	93619652	A	G	93619652	2	3	74	1	0	0	0	0	0	0	0	1	12558	157	6	3		3	PROS1	3	93619652	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	20187074	93619652	104402778	364	50635											
GABRR3	200959	broad.mit.edu	37	chr3	97705698	97705698	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcggtgctggggctgcatatCgattttcttctcatgaagtc	11	9	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:97705698C>T	uc011bgr.1	-	9	1233	c.1233G>A	c.(1231-1233)TCG>TCA	p.S411S		NM_001105580	NP_001099050	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 3	411	Cytoplasmic (Potential).|Interaction with SQSTM1 (By similarity).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0						GGCTGCATATCGATTTTCTTC	0.433													T	97705698	C	T	97705698	2	4	74	1	0	0	0	0	0	0	0	1	6178	871	31	1		1	GABRR3	3	97705698	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	4086046	97705698	100316732	365	50636											
OR5H15	403274	broad.mit.edu	37	chr3	97887908	97887908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaacaatggcatatgatcGctatgtagccatatgcaaac	9	9	0	1	rs147604293	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:97887908G>A	uc011bgu.1	+	1	365	c.365G>A	c.(364-366)CGC>CAC	p.R122H		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GCATATGATCGCTATGTAGCC	0.373													A	97887908	G	A	97887908	3	1	74	1	0	0	0	0	1	0	0	0	11161	1087	38	1	367	1	OR5H15	3	97887908	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	182210	97887908	100134522	366	50637											
FILIP1L	11259	broad.mit.edu	37	chr3	99567819	99567819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaacctttatatgaagtgGctgcccaggtgtgtggctta	12	7	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:99567819G>A	uc003dtm.2	-	5	3164	c.2701C>T	c.(2701-2703)CCA>TCA	p.P901S	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.P901S|FILIP1L_uc010hpf.2_Missense_Mutation_p.P477S|FILIP1L_uc010hpg.2_Missense_Mutation_p.P661S|FILIP1L_uc003dtn.2_Missense_Mutation_p.P661S|FILIP1L_uc003dtp.1_Missense_Mutation_p.P661S	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	901						cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						ATATGAAGTGGCTGCCCAGGT	0.463													A	99567819	G	A	99567819	3	1	74	1	0	0	0	0	1	0	0	0	5895	1203	42	2	735	2	FILIP1L	3	99567819	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1679911	99567819	98454611	367	50638											
FILIP1L	11259	broad.mit.edu	37	chr3	99569276	99569276	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactgagtttttcaacctctAgtttaaagtctttactctgt	5	8	4	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:99569276A>G	uc003dtm.2	-	5	1707	c.1244T>C	c.(1243-1245)CTA>CCA	p.L415P	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.L415P|FILIP1L_uc010hpf.2_Intron|FILIP1L_uc010hpg.2_Missense_Mutation_p.L175P|FILIP1L_uc003dtn.2_Missense_Mutation_p.L175P|FILIP1L_uc003dtp.1_Missense_Mutation_p.L175P	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	415	Potential.					cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						TTCAACCTCTAGTTTAAAGTC	0.373													G	99569276	A	G	99569276	3	3	74	1	0	0	0	0	1	0	0	0	5895	420	15	3	2192	3	FILIP1L	3	99569276	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1457	99569276	98453154	368	50639											
ABI3BP	25890	broad.mit.edu	37	chr3	100567662	100567662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccaggtttggttcttggcGgtttgggccgggggcgtcgt	18	8	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:100567662G>A	uc003dun.2	-	16	1518	c.1433C>T	c.(1432-1434)CCG>CTG	p.P478L	ABI3BP_uc003duo.2_Missense_Mutation_p.P520L|ABI3BP_uc011bhd.1_5'Flank|ABI3BP_uc003dum.2_5'Flank	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	478	Pro-rich.					extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						GGTTCTTGGCGGTTTGGGCCG	0.353													A	100567662	G	A	100567662	3	1	74	1	0	0	0	0	1	0	0	0	91	1116	39	1	1874	1	ABI3BP	3	100567662	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	998386	100567662	97454768	369	50640											
ABI3BP	25890	broad.mit.edu	37	chr3	100593724	100593724	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctgaaatctcaaacattaGggatgcaggaagttttacag	9	6	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:100593724G>T	uc003dun.2	-	9	977	c.892C>A	c.(892-894)CTA>ATA	p.L298I	ABI3BP_uc003duo.2_Missense_Mutation_p.L291I|ABI3BP_uc003dup.3_Missense_Mutation_p.L291I	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	298						extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						TCAAACATTAGGGATGCAGGA	0.353													T	100593724	G	T	100593724	3	4	74	1	0	0	0	0	1	0	0	0	91	991	35	5	2443	5	ABI3BP	3	100593724	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	26062	100593724	97428706	370	50641											
SENP7	57337	broad.mit.edu	37	chr3	101085558	101085558	+	Frame_Shift_Del	DEL	T	T	-													gttttggatcctgatgatagTtttcacttggcttttcaaac							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:101085557_101085557GT>G	uc003dut.3	-	8	1146	c.1035_1035AC>C	c.(1033-1035)aacfs	p.N345fs	SENP7_uc003duu.3_Frame_Shift_Del_p.N280fs|SENP7_uc003duv.3_Frame_Shift_Del_p.N312fs|SENP7_uc003duw.3_Frame_Shift_Del_p.N279fs|SENP7_uc003dux.3_Frame_Shift_Del_p.N181fs	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	345					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCTGATGATAGTTTTCACTTG	0.313													-	101085558	T	-	101085558	7	5	74	1	0	1	0	1	0	0	0	0	14051	1725	60	0	2182	0	SENP7	3	101085558	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	491834	101085558	96936872	371	50642											
GUCA1C	9626	broad.mit.edu	37	chr3	108672475	108672475	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttctgattcagaccttgcagAcccaaaagtgtcttaaattc	6	10	3	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:108672475A>T	uc003dxj.2	-	1	203	c.135T>A	c.(133-135)GGT>GGA	p.G45G	GUCA1C_uc003dxk.2_Silent_p.G45G	NM_005459	NP_005450	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	45	EF-hand 1.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0						GACCTTGCAGACCCAAAAGTG	0.368													T	108672475	A	T	108672475	2	4	74	1	0	0	0	0	0	0	0	1	6890	262	10	5		5	GUCA1C	3	108672475	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	7586917	108672475	89349955	372	50643											
PHLDB2	90102	broad.mit.edu	37	chr3	111603433	111603433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttggagggctggaaggtcGgaaggcatctggctcgctcc	16	10	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:111603433G>A	uc010hqa.2	+	2	920	c.509G>A	c.(508-510)CGG>CAG	p.R170Q	PHLDB2_uc003dyc.2_Missense_Mutation_p.R197Q|PHLDB2_uc003dyd.2_Missense_Mutation_p.R170Q|PHLDB2_uc003dyg.2_Missense_Mutation_p.R170Q|PHLDB2_uc003dyh.2_Missense_Mutation_p.R170Q|PHLDB2_uc003dye.3_Missense_Mutation_p.R170Q|PHLDB2_uc003dyf.3_Missense_Mutation_p.R170Q	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	170						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						CTGGAAGGTCGGAAGGCATCT	0.547													A	111603433	G	A	111603433	3	1	74	1	0	0	0	0	1	0	0	0	11852	1116	39	1	596	1	PHLDB2	3	111603433	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2930958	111603433	86418997	373	50644											
PHLDB2	90102	broad.mit.edu	37	chr3	111604167	111604167	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttcgggaacggaaaagcAgtattagctccatttcagga	10	10	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:111604167A>G	uc010hqa.2	+	2	1654	c.1243A>G	c.(1243-1245)AGT>GGT	p.S415G	PHLDB2_uc003dyc.2_Missense_Mutation_p.S442G|PHLDB2_uc003dyd.2_Missense_Mutation_p.S415G|PHLDB2_uc003dyg.2_Missense_Mutation_p.S415G|PHLDB2_uc003dyh.2_Missense_Mutation_p.S415G|PHLDB2_uc003dye.3_Missense_Mutation_p.S415G|PHLDB2_uc003dyf.3_Missense_Mutation_p.S415G	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	415						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						ACGGAAAAGCAGTATTAGCTC	0.517													G	111604167	A	G	111604167	3	3	74	1	0	0	0	0	1	0	0	0	11852	188	7	3	1330	3	PHLDB2	3	111604167	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	734	111604167	86418263	374	50645											
CD200	4345	broad.mit.edu	37	chr3	112063825	112063825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagtgcaagtggtgacccaGgatgaaagagagcagctgta	14	6	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:112063825G>A	uc003dyw.2	+	4	330	c.186G>A	c.(184-186)CAG>CAA	p.Q62Q	CD200_uc010hqd.1_5'UTR|CD200_uc003dyx.2_Silent_p.Q37Q|CD200_uc003dyy.2_5'UTR|CD200_uc003dyz.2_5'UTR	NM_001004196	NP_001004196	P41217	OX2G_HUMAN	CD200 antigen isoform b	37	Ig-like V-type.|Extracellular (Potential).				regulation of immune response	integral to plasma membrane					0		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				TGGTGACCCAGGATGAAAGAG	0.363													A	112063825	G	A	112063825	2	1	74	1	0	0	0	0	0	0	0	1	2980	991	35	4		4	CD200	3	112063825	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	459658	112063825	85958605	375	50646											
BOC	91653	broad.mit.edu	37	chr3	112993431	112993431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcatcctcagctcgcccCgcacctccaagacagactca	5	20	3	2	rs138233485		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:112993431C>T	uc003dzx.2	+	9	2065	c.1444C>T	c.(1444-1446)CGC>TGC	p.R482C	BOC_uc003dzy.2_Missense_Mutation_p.R482C|BOC_uc003dzz.2_Missense_Mutation_p.R482C|BOC_uc003eab.2_Missense_Mutation_p.R183C	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	482	Fibronectin type-III 1.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			CAGCTCGCCCCGCACCTCCAA	0.652													T	112993431	C	T	112993431	3	4	74	1	0	0	0	0	1	0	0	0	1481	652	23	1	1470	1	BOC	3	112993431	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	929606	112993431	85028999	376	50647											
KIAA2018	205717	broad.mit.edu	37	chr3	113378335	113378335	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaattggcaggctggcTaatagacaattgtacacagc	11	7	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:113378335T>C	uc003eam.2	-	7	2605	c.2194A>G	c.(2194-2196)AGC>GGC	p.S732G	KIAA2018_uc003eal.2_Missense_Mutation_p.S676G	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	732					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						GCAGGCTGGCTAATAGACAAT	0.438													C	113378335	T	C	113378335	3	2	74	1	0	0	0	0	1	0	0	0	8268	1522	53	3	4547	3	KIAA2018	3	113378335	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	384904	113378335	84644095	377	50648											
QTRTD1	79691	broad.mit.edu	37	chr3	113795748	113795748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaggctagactacgcttGctgtcatcagtcactgcaga	11	11	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:113795748G>A	uc003eay.2	+	7	935	c.705G>A	c.(703-705)TTG>TTA	p.L235L	QTRTD1_uc003eaz.2_Silent_p.L247L|QTRTD1_uc011biq.1_Silent_p.L112L|QTRTD1_uc011bir.1_Silent_p.L129L|QTRTD1_uc003eba.2_Silent_p.L112L	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain	235					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|skin(1)	2						GACTACGCTTGCTGTCATCAG	0.587													A	113795748	G	A	113795748	2	1	74	1	0	0	0	0	0	0	0	1	12886	1310	46	2		2	QTRTD1	3	113795748	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	417413	113795748	84226682	378	50649											
ARHGAP31	57514	broad.mit.edu	37	chr3	119120749	119120749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaaagatgcactccaccGgcaccggcagctcatgtgac	9	15	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:119120749G>A	uc003ecj.3	+	10	1682	c.1150G>A	c.(1150-1152)GGC>AGC	p.G384S		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	384					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						GCACTCCACCGGCACCGGCAG	0.532													A	119120749	G	A	119120749	3	1	74	1	0	0	0	0	1	0	0	0	880	1116	39	1	1188	1	ARHGAP31	3	119120749	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	5325001	119120749	78901681	379	50650											
ARHGAP31	57514	broad.mit.edu	37	chr3	119121085	119121085	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctttgcggtatctgtgccgCtccgcgtgtccgcagtcatc	11	15	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:119121085C>A	uc003ecj.3	+	10	2018	c.1486C>A	c.(1486-1488)CTC>ATC	p.L496I		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	496					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						ATCTGTGCCGCTCCGCGTGTC	0.592													A	119121085	C	A	119121085	3	1	74	1	0	0	0	0	1	0	0	0	880	797	28	5	1524	5	ARHGAP31	3	119121085	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	336	119121085	78901345	380	50651											
ADPRH	141	broad.mit.edu	37	chr3	119305260	119305260	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcatcggtctcaggttcCcacaccatagccaactggac	9	14	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:119305260C>A	uc003ecs.2	+	4	725	c.427C>A	c.(427-429)CCA>ACA	p.P143T	ADPRH_uc010hqv.2_Missense_Mutation_p.P143T|ADPRH_uc011bjb.1_Missense_Mutation_p.P36T|ADPRH_uc003ect.2_Missense_Mutation_p.P143T	NM_001125	NP_001116	P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	143					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			ovary(1)	1		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		TCTCAGGTTCCCACACCATAG	0.622													A	119305260	C	A	119305260	3	1	74	1	0	0	0	0	1	0	0	0	331	623	22	5	433	5	ADPRH	3	119305260	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	184175	119305260	78717170	381	50652											
POLQ	10721	broad.mit.edu	37	chr3	121238933	121238933	+	Splice_Site	DEL	A	A	-													tctcctcaaaagtaagacctAaaaaaaggaggtttttatat							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:121238932_121238932TA>T	uc003eee.4	-	9	1385	c.1256_splice	c.e9-1	p.G419_splice		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	419	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAGTAAGACCTAAAAAAAGGA	0.373								DNA polymerases (catalytic subunits)					-	121238933	A	-	121238933	8	5	74	1	0	1	0	1	0	0	1	0	12208	377	13	0		0	POLQ	3	121238933	Splice_Site	DEL	A	TCGA-BR-8361-01A-11D-2340-08	1933673	121238933	76783497	382	50653											
CD86	942	broad.mit.edu	37	chr3	121828232	121828232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatggaagaagaagaagcGgcctcgcaactcttataaat	10	7	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:121828232G>A	uc003eet.2	+	5	940	c.824G>A	c.(823-825)CGG>CAG	p.R275Q	CD86_uc011bjo.1_Missense_Mutation_p.R193Q|CD86_uc011bjp.1_Missense_Mutation_p.R163Q|CD86_uc003eeu.2_Missense_Mutation_p.R269Q	NM_175862	NP_787058	P42081	CD86_HUMAN	CD86 antigen isoform 1	275	Cytoplasmic (Potential).				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			pancreas(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	AAGAAGAAGCGGCCTCGCAAC	0.473													A	121828232	G	A	121828232	3	1	74	1	0	0	0	0	1	0	0	0	3043	1116	39	1	842	1	CD86	3	121828232	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	589299	121828232	76194198	383	50654											
CD86	942	broad.mit.edu	37	chr3	121838287	121838288	+	Frame_Shift_Ins	INS	-	-	A													ttcttctatttctccagagaINSaaaaatccatatacctgaaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:121838286_121838287G>GA	uc003eet.3	+	6	1023_1024	c.895_896G>GA	c.(895-897)gaafs	p.E299fs	CD86_uc011bjo.2_Frame_Shift_Ins_p.E217fs|CD86_uc011bjp.2_Frame_Shift_Ins_p.E187fs|CD86_uc003eeu.3_Frame_Shift_Ins_p.E293fs|CD86_uc021xcz.1_Frame_Shift_Ins_p.E245fs	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	299					T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TTTCTCCAGAGAAAAAATCCAT	0.337													A	121838288	-	A	121838287	7	5	74	1	0	1	1	0	0	0	0	0	3043	246	9	0	922	0	CD86	3	121838287	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	10055	121838287	76184143	384	50655											
SEMA5B	54437	broad.mit.edu	37	chr3	122658273	122658273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaagaaagcaatcgtaccTgaagaagagagacattggca	13	6	0	5			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:122658273T>C	uc003efz.1	-	5	777	c.473A>G	c.(472-474)CAG>CGG	p.Q158R	SEMA5B_uc011bju.1_Missense_Mutation_p.Q100R|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.Q158R|SEMA5B_uc010hro.1_Missense_Mutation_p.Q100R|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	158	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		CAATCGTACCTGAAGAAGAGA	0.502													C	122658273	T	C	122658273	3	2	74	1	0	0	0	0	1	0	0	0	14038	1594	55	3	3058	3	SEMA5B	3	122658273	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	819986	122658273	75364157	385	50656											
MYLK	4638	broad.mit.edu	37	chr3	123368044	123368044	+	Splice_Site	DEL	G	G	-													ccacttcatccttcggctctGgggggggcacaaggaaggac					rs138786404		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:123368043_123368043TG>T	uc003ego.3	-	25	4571	c.4289_splice	c.e25-1	p.E1430_splice	MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.E230_splice|MYLK_uc011bjw.2_Splice_Site_p.E1430_splice|MYLK_uc003egp.3_Splice_Site_p.E1361_splice|MYLK_uc003egq.3_Splice_Site_p.E1430_splice|MYLK_uc003egr.3_Splice_Site_p.E1361_splice|MYLK_uc003egs.3_Splice_Site_p.E1254_splice	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1430	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCA	0.622													-	123368044	G	-	123368044	8	5	74	1	0	1	0	1	0	0	1	0	10056	1363	47	0		0	MYLK	3	123368044	Splice_Site	DEL	G	TCGA-BR-8361-01A-11D-2340-08	709771	123368044	74654386	386	50657											
MYLK	4638	broad.mit.edu	37	chr3	123452835	123452835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaagtcttctgaaggacCggggtctgcggggccgttct	16	10	4	1	rs143682943		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:123452835C>T	uc003ego.2	-	10	1290	c.1008G>A	c.(1006-1008)CCG>CCA	p.P336P	MYLK_uc011bjw.1_Silent_p.P336P|MYLK_uc003egp.2_Silent_p.P336P|MYLK_uc003egq.2_Silent_p.P336P|MYLK_uc003egr.2_Silent_p.P336P|MYLK_uc003egs.2_Silent_p.P160P	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	336					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCTGAAGGACCGGGGTCTGCG	0.637													T	123452835	C	T	123452835	2	4	74	1	0	0	0	0	0	0	0	1	10056	639	23	1		1	MYLK	3	123452835	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	84791	123452835	74569595	387	50658											
ZNF148	7707	broad.mit.edu	37	chr3	124951658	124951658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaatgctggctgatttgGgagggtctggttatcagtca	15	5	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:124951658G>A	uc003ehx.3	-	9	2398	c.1912C>T	c.(1912-1914)CCA>TCA	p.P638S	SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Missense_Mutation_p.P638S|ZNF148_uc010hsa.2_Missense_Mutation_p.P638S|ZNF148_uc003eia.3_Missense_Mutation_p.P638S|ZNF148_uc003ehy.2_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	638					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4						GGCTGATTTGGGAGGGTCTGG	0.453													A	124951658	G	A	124951658	3	1	74	1	0	0	0	0	1	0	0	0	17731	1232	43	4	476	4	ZNF148	3	124951658	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1498823	124951658	73070772	388	50659											
UROC1	131669	broad.mit.edu	37	chr3	126219563	126219563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaccaggtccttgaacaCagcagggttggaggccatga	14	10	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:126219563C>T	uc003eiz.1	-	11	1152	c.1120G>A	c.(1120-1122)GTG>ATG	p.V374M	UROC1_uc010hsi.1_Missense_Mutation_p.V434M	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	374					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		TCCTTGAACACAGCAGGGTTG	0.582													T	126219563	C	T	126219563	3	4	74	1	0	0	0	0	1	0	0	0	17025	478	17	4	950	4	UROC1	3	126219563	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1267905	126219563	71802867	389	50660											
UROC1	131669	broad.mit.edu	37	chr3	126226631	126226631	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcatactccgtccgggaggAgtagttgggaatgacctgga	14	9	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:126226631A>G	uc003eiz.1	-	6	588	c.556T>C	c.(556-558)TCC>CCC	p.S186P	UROC1_uc010hsi.1_Missense_Mutation_p.S186P	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	186					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		GTCCGGGAGGAGTAGTTGGGA	0.562													G	126226631	A	G	126226631	3	3	74	1	0	0	0	0	1	0	0	0	17025	304	11	3	1718	3	UROC1	3	126226631	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	7068	126226631	71795799	390	50661											
PLXNA1	5361	broad.mit.edu	37	chr3	126736719	126736719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggcgcccaacctcactgGgcagcacaaggtcacggtgc	13	15	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:126736719G>A	uc003ejg.2	+	18	3579	c.3575G>A	c.(3574-3576)GGG>GAG	p.G1192E		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1215	Extracellular (Potential).|IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		AACCTCACTGGGCAGCACAAG	0.657													A	126736719	G	A	126736719	3	1	74	1	0	0	0	0	1	0	0	0	12119	1232	43	4	3714	4	PLXNA1	3	126736719	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	510088	126736719	71285711	391	50662											
ABTB1	80325	broad.mit.edu	37	chr3	127396615	127396615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagggggccccccagccGtcaccctgcatggcatctca	10	19	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:127396615G>A	uc003ejt.2	+	10	1046	c.958G>A	c.(958-960)GTC>ATC	p.V320I	ABTB1_uc003ejr.2_Missense_Mutation_p.V178I|ABTB1_uc003ejs.2_Missense_Mutation_p.V295I|ABTB1_uc003eju.2_Missense_Mutation_p.V178I|ABTB1_uc010hsm.2_Missense_Mutation_p.V47I	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	320	BTB 2.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0						CCCCCCAGCCGTCACCCTGCA	0.632													A	127396615	G	A	127396615	3	1	74	1	0	0	0	0	1	0	0	0	102	1145	40	1	996	1	ABTB1	3	127396615	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	659896	127396615	70625815	392	50663											
RPN1	6184	broad.mit.edu	37	chr3	128344800	128344800	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtgtccagataggtgtAgtgcagctcatctggggcac	13	8	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:128344800A>G	uc003ekr.1	-	7	1268	c.1192T>C	c.(1192-1194)TAC>CAC	p.Y398H	RPN1_uc011bkq.1_Missense_Mutation_p.Y226H	NM_002950	NP_002941	P04843	RPN1_HUMAN	ribophorin I precursor	398	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(114;0.189)		AGATAGGTGTAGTGCAGCTCA	0.458			T	EVI1	AML								G	128344800	A	G	128344800	3	3	74	1	0	0	0	0	1	0	0	0	13607	420	15	3	647	3	RPN1	3	128344800	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	948185	128344800	69677630	393	50664											
ACAD9	28976	broad.mit.edu	37	chr3	128603583	128603583	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccgtggaaaaattcttcactGaagagggtatgtatggtttt	11	5	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:128603583G>A	uc003ela.3	+	2	440	c.238G>A	c.(238-240)GAA>AAA	p.E80K	ACAD9_uc010hsw.1_Intron|ACAD9_uc011bks.1_5'UTR|ACAD9_uc003elb.2_Intron	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	acyl-Coenzyme A dehydrogenase family, member 9	80						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			ovary(2)|central_nervous_system(1)	3						ATTCTTCACTGAAGAGGGTAT	0.343													A	128603583	G	A	128603583	3	1	74	1	0	0	0	0	1	0	0	0	111	1291	45	4	244	4	ACAD9	3	128603583	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	258783	128603583	69418847	394	50665											
ACAD9	28976	broad.mit.edu	37	chr3	128612407	128612407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcttggcagtggactcccGaaaaattgaccaggaaggga	12	10	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:128612407G>A	uc003ela.3	+	3	456	c.254G>A	c.(253-255)CGA>CAA	p.R85Q	ACAD9_uc010hsw.1_5'UTR|ACAD9_uc011bks.1_5'UTR|ACAD9_uc003elb.2_5'UTR	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	acyl-Coenzyme A dehydrogenase family, member 9	85						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			ovary(2)|central_nervous_system(1)	3						GTGGACTCCCGAAAAATTGAC	0.358													A	128612407	G	A	128612407	3	1	74	1	0	0	0	0	1	0	0	0	111	1058	37	1	264	1	ACAD9	3	128612407	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	8824	128612407	69410023	395	50666											
C3orf37	56941	broad.mit.edu	37	chr3	129023513	129023513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaggaagactcaaaaacaCctcaaaaggaagagtcagat	8	7	3	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:129023513C>T	uc003elt.2	+	7	998	c.910C>T	c.(910-912)CCT>TCT	p.P304S	C3orf37_uc003elu.2_Missense_Mutation_p.P262S|C3orf37_uc003elv.2_Missense_Mutation_p.P304S|C3orf37_uc003elw.2_Missense_Mutation_p.P304S	NM_020187	NP_064572	Q96FZ2	CC037_HUMAN	hypothetical protein LOC56941	304										ovary(1)	1						CTCAAAAACACCTCAAAAGGA	0.507													T	129023513	C	T	129023513	3	4	74	1	0	0	0	0	1	0	0	0	2227	507	18	4	932	4	C3orf37	3	129023513	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	411106	129023513	68998917	396	50667											
TRH	7200	broad.mit.edu	37	chr3	129695643	129695643	+	Frame_Shift_Del	DEL	G	G	-													aagaagaggaagaggaagaaGggggggctgtgggaccccac							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:129695642_129695642AG>A	uc003enc.3	+	2	873	c.312_312AG>A	c.(310-312)gaafs	p.E104fs		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	104					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						aagaggaagaagggggggCTG	0.567													-	129695643	G	-	129695643	7	5	74	1	0	1	0	1	0	0	0	0	16475	1000	35	0	319	0	TRH	3	129695643	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	672130	129695643	68326787	397	50668											
COL6A6	131873	broad.mit.edu	37	chr3	130284028	130284028	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtgataaattcactgagCatgggcataaataagtcaga	9	5	2	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:130284028C>T	uc010htl.2	+	3	883	c.852C>T	c.(850-852)AGC>AGT	p.S284S		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	284	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						ATTCACTGAGCATGGGCATAA	0.448													T	130284028	C	T	130284028	2	4	74	1	0	0	0	0	0	0	0	1	3703	709	25	2		2	COL6A6	3	130284028	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	588385	130284028	67738402	398	50669											
ATP2C1	27032	broad.mit.edu	37	chr3	130660493	130660493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttggttccaggtgatacaGtttgcctttctgttggggat	12	7	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:130660493G>A	uc003enl.2	+	8	703	c.481G>A	c.(481-483)GTT>ATT	p.V161I	ATP2C1_uc011blg.1_Missense_Mutation_p.V195I|ATP2C1_uc011blh.1_Missense_Mutation_p.V156I|ATP2C1_uc011bli.1_Missense_Mutation_p.V195I|ATP2C1_uc003enk.2_Missense_Mutation_p.V145I|ATP2C1_uc003enm.2_Missense_Mutation_p.V161I|ATP2C1_uc003enn.2_Missense_Mutation_p.V145I|ATP2C1_uc003eno.2_Missense_Mutation_p.V161I|ATP2C1_uc003enp.2_Missense_Mutation_p.V161I|ATP2C1_uc003enq.2_Missense_Mutation_p.V161I|ATP2C1_uc003enr.2_Missense_Mutation_p.V161I|ATP2C1_uc003ens.2_Missense_Mutation_p.V161I|ATP2C1_uc003ent.2_Missense_Mutation_p.V161I	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	161	Cytoplasmic (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	AGGTGATACAGTTTGCCTTTC	0.388									Hailey-Hailey_disease				A	130660493	G	A	130660493	3	1	74	1	0	0	0	0	1	0	0	0	1143	1029	36	4	507	4	ATP2C1	3	130660493	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	376465	130660493	67361937	399	50670											
ASTE1	28990	broad.mit.edu	37	chr3	130743303	130743303	+	Frame_Shift_Del	DEL	T	T	-													ccttaacattttctcgatccTtttttgggaggtatttcaga					rs34815684		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:130743302_130743302CT>C	uc010htm.1	-	2	1056	c.849_849AG>G	c.(847-849)aagfs	p.K283fs	NEK11_uc003enx.3_5'Flank|NEK11_uc003eny.3_5'Flank|NEK11_uc003eoa.3_5'Flank|NEK11_uc003enz.3_5'Flank|NEK11_uc011blk.2_5'Flank|NEK11_uc011bll.2_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.2_5'Flank|ASTE1_uc003env.1_Frame_Shift_Del_p.K283fs|ASTE1_uc011blj.1_Non-coding_Transcript	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	Homo sapiens asteroid homolog 1 (Drosophila) (ASTE1), mRNA.	283					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTTCTCGATCCTTTTTTGGGA	0.448													-	130743303	T	-	130743303	7	5	74	1	0	1	0	1	0	0	0	0	1062	1609	56	0	1207	0	ASTE1	3	130743303	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	82810	130743303	67279127	400	50671											
MRPL3	11222	broad.mit.edu	37	chr3	131217124	131217124	+	Splice_Site	DEL	A	A	-													gacatgacagtcttgtacctAaaaaaacaaacataaaaaaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:131217123_131217123TA>T	uc011blp.2	-	5	646	c.451_splice	c.e5-1	p.V151_splice	MRPL3_uc011blo.2_Splice_Site_p.V19_splice|MRPL3_uc003eoh.3_Splice_Site_p.V124_splice	NM_007208	NP_009139	P09001	RM03_HUMAN	Homo sapiens mitochondrial ribosomal protein L3 (MRPL3), nuclear gene encoding mitochondrial protein, mRNA.	124					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GTCTTGTACCTAAAAAAACAA	0.348													-	131217124	A	-	131217124	8	5	74	1	0	1	0	1	0	0	1	0	9793	377	13	0		0	MRPL3	3	131217124	Splice_Site	DEL	A	TCGA-BR-8361-01A-11D-2340-08	473821	131217124	66805306	401	50672											
ACAD11	84129	broad.mit.edu	37	chr3	132277865	132277865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccgcagctccattgttgCgattgctgaaagatgaactt	10	10	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:132277865C>T	uc003eov.3	-	20	2673	c.2293G>A	c.(2293-2295)GCA>ACA	p.A765T		NM_032169	NP_115545	Q709F0	ACD11_HUMAN	putative acyl-CoA dehydrogenase	765						peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups			ovary(1)	1						TCCATTGTTGCGATTGCTGAA	0.468													T	132277865	C	T	132277865	3	4	74	1	0	0	0	0	1	0	0	0	109	768	27	1	53	1	ACAD11	3	132277865	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1060741	132277865	65744565	402	50673											
CCRL1	51554	broad.mit.edu	37	chr3	132320091	132320091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcaaacgcatggacatcGccatccaagtcacagaaagc	9	12	1	2	rs139794831		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:132320091G>A	uc003eow.2	+	2	933	c.850G>A	c.(850-852)GCC>ACC	p.A284T	ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Missense_Mutation_p.A284T	NM_016557	NP_057641	Q9NPB9	CCRL1_HUMAN	chemokine (C-C motif) receptor-like 1	284	Extracellular (Potential).				chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity				0						CATGGACATCGCCATCCAAGT	0.443													A	132320091	G	A	132320091	3	1	74	1	0	0	0	0	1	0	0	0	2949	1087	38	1	852	1	CCRL1	3	132320091	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	42226	132320091	65702339	403	50674											
C3orf36	80111	broad.mit.edu	37	chr3	133647304	133647304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctctccctgagagggcgCagagtgggtggttcccccca	13	15	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:133647304C>T	uc003epz.1	-	1	1353	c.344G>A	c.(343-345)TGC>TAC	p.C115Y		NM_025041	NP_079317	Q3SXR2	CC036_HUMAN	hypothetical protein LOC80111	115										ovary(1)	1						TGAGAGGGCGCAGAGTGGGTG	0.657													T	133647304	C	T	133647304	3	4	74	1	0	0	0	0	1	0	0	0	2226	710	25	2	157	2	C3orf36	3	133647304	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1327213	133647304	64375126	404	50675											
CEP63	80254	broad.mit.edu	37	chr3	134256014	134256014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaattccgtcagaaatcGctggactgggagaagcaacg	13	9	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:134256014G>A	uc003eqo.1	+	7	908	c.459G>A	c.(457-459)TCG>TCA	p.S153S	CEP63_uc003eql.1_Silent_p.S153S|CEP63_uc003eqm.2_Silent_p.S153S|CEP63_uc003eqn.1_Silent_p.S153S	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	153	Potential.				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			ovary(1)	1						GTCAGAAATCGCTGGACTGGG	0.443													A	134256014	G	A	134256014	2	1	74	1	0	0	0	0	0	0	0	1	3257	1074	38	1		1	CEP63	3	134256014	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	608710	134256014	63766416	405	50676											
DZIP1L	199221	broad.mit.edu	37	chr3	137786534	137786534	+	Frame_Shift_Del	DEL	G	G	-													agtcctcttcagaactgaacGggggcgtgctgccacgagga					rs147742959		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:137786533_137786533CG>C	uc003erq.3	-	13	2205	c.1842_1842CG>G	c.(1840-1842)ccgfs	p.P614fs		NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	614						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CAGAACTGAACGGGGGCGTGC	0.547													-	137786534	G	-	137786534	7	5	74	1	0	1	0	1	0	0	0	0	4864	1116	39	0	474	0	DZIP1L	3	137786534	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	3530520	137786534	60235896	406	50677											
DZIP1L	199221	broad.mit.edu	37	chr3	137822592	137822592	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtccacaggctgcccacaGcggctgcacacctcccggtc	12	18	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:137822592G>T	uc003erq.2	-	2	585	c.222C>A	c.(220-222)CGC>CGA	p.R74R	DZIP1L_uc003err.1_Silent_p.R74R	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	74						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						GCTGCCCACAGCGGCTGCACA	0.617													T	137822592	G	T	137822592	2	4	74	1	0	0	0	0	0	0	0	1	4864	958	34	5		5	DZIP1L	3	137822592	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	36058	137822592	60199838	407	50678											
MRPS22	56945	broad.mit.edu	37	chr3	139074583	139074583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctccatccagatggccagtCggctcaaggggccaaggatc	13	13	1	1	rs147932653	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:139074583C>T	uc003etb.2	+	7	946	c.938C>T	c.(937-939)TCG>TTG	p.S313L	MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.S312L|MRPS22_uc003ete.2_Missense_Mutation_p.S272L	NM_020191	NP_064576	P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	313						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			ovary(2)|skin(1)	3						GATGGCCAGTCGGCTCAAGGG	0.433													T	139074583	C	T	139074583	3	4	74	1	0	0	0	0	1	0	0	0	9833	893	31	1	964	1	MRPS22	3	139074583	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1251991	139074583	58947847	408	50679											
RASA2	5922	broad.mit.edu	37	chr3	141327408	141327408	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagctaatgaatggatagaCgtactctgcagggtgagccg	14	7	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:141327408C>T	uc003etz.1	+	21	2094	c.2094C>T	c.(2092-2094)GAC>GAT	p.D698D	RASA2_uc010huq.1_Silent_p.D702D|RASA2_uc003eua.1_Silent_p.D699D	NM_006506	NP_006497	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	698	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			ovary(2)|lung(2)|breast(1)|skin(1)	6						AATGGATAGACGTACTCTGCA	0.423													T	141327408	C	T	141327408	2	4	74	1	0	0	0	0	0	0	0	1	13061	535	19	1		1	RASA2	3	141327408	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2252825	141327408	56695022	409	50680											
XRN1	54464	broad.mit.edu	37	chr3	142051254	142051254	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaggctgagagggtaatccAtattcatctcttctgttaga	9	7	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:142051254A>G	uc003eus.2	-	36	4249	c.4182T>C	c.(4180-4182)TAT>TAC	p.Y1394Y	XRN1_uc010huu.2_Silent_p.Y861Y|XRN1_uc003eut.2_Silent_p.Y1394Y|XRN1_uc003euu.2_Silent_p.Y1395Y	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	1394					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						AGGGTAATCCATATTCATCTC	0.289													G	142051254	A	G	142051254	2	3	74	1	0	0	0	0	0	0	0	1	17456	224	8	3		3	XRN1	3	142051254	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	723846	142051254	55971176	410	50681											
PAQR9	344838	broad.mit.edu	37	chr3	142681341	142681341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaccagccagaagtagcGgcggtagaagtgcacgaaga	13	11	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:142681341G>A	uc003evg.2	-	1	838	c.838C>T	c.(838-840)CGC>TGC	p.R280C	PAQR9_uc003evf.1_RNA	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	280	Extracellular (Potential).					integral to membrane	receptor activity				0						CAGAAGTAGCGGCGGTAGAAG	0.607													A	142681341	G	A	142681341	3	1	74	1	0	0	0	0	1	0	0	0	11442	1116	39	1	299	1	PAQR9	3	142681341	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	630087	142681341	55341089	411	50682											
ZIC4	84107	broad.mit.edu	37	chr3	147114080	147114080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcgtcgctgcgggccgCaggccctggcgggaagggct	20	13	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:147114080C>T	uc003ewd.1	-	3	520	c.247G>A	c.(247-249)GCG>ACG	p.A83T	ZIC4_uc003ewc.1_Missense_Mutation_p.A13T|ZIC4_uc011bno.1_Missense_Mutation_p.A133T	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	83						nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						CTGCGGGCCGCAGGCCCTGGC	0.716													T	147114080	C	T	147114080	3	4	74	1	0	0	0	0	1	0	0	0	17678	710	25	2	769	2	ZIC4	3	147114080	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	4432739	147114080	50908350	412	50683											
CP	1356	broad.mit.edu	37	chr3	148916275	148916275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttagctagacacacaggaTctgcattagtgggtcctact	9	10	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:148916275T>C	uc003ewy.3	-	9	1845	c.1592A>G	c.(1591-1593)GAT>GGT	p.D531G	CP_uc011bnr.1_RNA|CP_uc003ewx.3_Missense_Mutation_p.D312G|CP_uc003ewz.2_Missense_Mutation_p.D531G|CP_uc010hvf.1_Missense_Mutation_p.D257G	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	531	Plastocyanin-like 3.|F5/8 type A 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ACACACAGGATCTGCATTAGT	0.448													C	148916275	T	C	148916275	3	2	74	1	0	0	0	0	1	0	0	0	3787	1435	50	3	1649	3	CP	3	148916275	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	1802195	148916275	49106155	413	50684											
CLRN1	7401	broad.mit.edu	37	chr3	150690465	150690465	+	Frame_Shift_Del	DEL	A	A	-													actgaacactccggccatgcAaaaaatgattttcttctgtt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:150690464_150690464CA>C	uc021xfs.1	-	0	323	c.32_32TG>G	c.(31-33)tgcfs	p.C11fs	CLRN1-AS1_uc011bny.1_Intron|CLRN1-AS1_uc003eyl.2_5'Flank|CLRN1_uc003eyk.1_Frame_Shift_Del_p.C11fs|CLRN1_uc021xft.1_Non-coding_Transcript|CLRN1_uc021xfu.1_Non-coding_Transcript|CLRN1_uc021xfv.1_Frame_Shift_Del_p.C11fs|CLRN1_uc021xfw.1_Non-coding_Transcript	NM_001195794	NP_001182723	P58418	CLRN1_HUMAN	Homo sapiens clarin 1 (CLRN1), transcript variant 5, mRNA.	11					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCCGGCCATGCAAAAAATGAT	0.507													-	150690465	A	-	150690465	7	5	74	1	0	1	0	1	0	0	0	0	3557	130	5	0	733	0	CLRN1	3	150690465	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	1774190	150690465	47331965	414	50685											
IGSF10	285313	broad.mit.edu	37	chr3	151161036	151161036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtttcttatatacaaagtcCcatttgaaaataagaacaac	5	7	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:151161036C>T	uc011bod.1	-	5	5699	c.5699G>A	c.(5698-5700)GGG>GAG	p.G1900E	IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1900	Ig-like C2-type 5.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATACAAAGTCCCATTTGAAAA	0.433													T	151161036	C	T	151161036	3	4	74	1	0	0	0	0	1	0	0	0	7597	623	22	4	2228	4	IGSF10	3	151161036	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	470571	151161036	46861394	415	50686											
PPM1L	151742	broad.mit.edu	37	chr3	160786870	160786870	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcatagttttacagtcattTtacagaggctgccctgacaa	8	9	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:160786870T>C	uc003fdr.2	+	4	1109	c.1008T>C	c.(1006-1008)TTT>TTC	p.F336F	PPM1L_uc003fds.2_Silent_p.F157F|PPM1L_uc003fdt.2_Silent_p.F209F|PPM1L_uc010hwf.2_RNA	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	protein phosphatase 1 (formerly 2C)-like	336	Cytoplasmic (Potential).|PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)	1			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TACAGTCATTTTACAGAGGCT	0.468													C	160786870	T	C	160786870	2	2	74	1	0	0	0	0	0	0	0	1	12344	1838	64	3		3	PPM1L	3	160786870	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	9625834	160786870	37235560	416	50687											
SI	6476	broad.mit.edu	37	chr3	164735589	164735589	+	Frame_Shift_Del	DEL	A	A	-													caacttctggagttgggcccAaaaacatataaaaatccaag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:164735588_164735588CA>C	uc003fei.3	-	29	3657	c.3594_3594TG>G	c.(3592-3594)ttgfs	p.L1198fs		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1198	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GAGTTGGGCCCAAAAACATAT	0.328										HNSCC(35;0.089)			-	164735589	A	-	164735589	7	5	74	1	0	1	0	1	0	0	0	0	14297	131	5	0	1966	0	SI	3	164735589	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	3948719	164735589	33286841	417	50688											
SI	6476	broad.mit.edu	37	chr3	164755741	164755741	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggatgatataacctcctctAagatgtaatcctattttgtc	7	8	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:164755741A>G	uc003fei.2	-	21	2435	c.2373T>C	c.(2371-2373)CTT>CTC	p.L791L		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	791	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AACCTCCTCTAAGATGTAATC	0.328										HNSCC(35;0.089)			G	164755741	A	G	164755741	2	3	74	1	0	0	0	0	0	0	0	1	14297	349	13	3		3	SI	3	164755741	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	20152	164755741	33266689	418	50689											
SERPINI2	5276	broad.mit.edu	37	chr3	167183441	167183441	+	Frame_Shift_Del	DEL	A	A	-													agggccaaattcttcccctgAaaacatgtctttaatttttc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:167183440_167183440GA>G	uc003fes.1	-	3	601	c.530_530TC>C	c.(529-531)tcafs	p.S177fs	SERPINI2_uc003fer.1_Frame_Shift_Del_p.S167fs|SERPINI2_uc003fet.1_Frame_Shift_Del_p.S167fs	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	167					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.S167L(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TTCTTCCCCTGAAAACATGTC	0.403													-	167183441	A	-	167183441	7	5	74	1	0	1	0	1	0	0	0	0	14119	246	9	0	742	0	SERPINI2	3	167183441	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	2427700	167183441	30838989	419	50690											
PLD1	5337	broad.mit.edu	37	chr3	171451263	171451263	+	Frame_Shift_Del	DEL	T	T	-													atagtttctatacatgggcaTttttagtatctttgtcaagt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:171451262_171451262AT>A	uc003fhs.3	-	5	925	c.578_578AT>T	c.(577-579)atgfs	p.M193fs	PLD1_uc003fht.3_Frame_Shift_Del_p.M193fs	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	193	PX.				Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ATACATGGGCATTTTTAGTAT	0.279													-	171451263	T	-	171451263	7	5	74	1	0	1	0	1	0	0	0	0	12045	1493	52	0	2735	0	PLD1	3	171451263	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	4267822	171451263	26571167	420	50691											
FNDC3B	64778	broad.mit.edu	37	chr3	172115243	172115243	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattttatttgcctttatatTacagtacttcttaatgaagt	4	6	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:172115243T>C	uc003fhy.2	+	26	3765	c.3593T>C	c.(3592-3594)TTA>TCA	p.L1198S	FNDC3B_uc003fhz.3_Missense_Mutation_p.L1198S	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1198	Helical; (Potential).					endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GCCTTTATATTACAGTACTTC	0.343													C	172115243	T	C	172115243	3	2	74	1	0	0	0	0	1	0	0	0	5970	1764	61	3	3691	3	FNDC3B	3	172115243	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	663980	172115243	25907187	421	50692											
GHSR	2693	broad.mit.edu	37	chr3	172166194	172166194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctcttcgctgggcgtcgCgttccacatgctgccggctc	13	16	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:172166194C>T	uc003fib.1	-	1	10	c.10G>A	c.(10-12)GCG>ACG	p.A4T	GHSR_uc011bpv.1_Missense_Mutation_p.A4T	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	4	Extracellular (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			lung(3)|ovary(1)|central_nervous_system(1)	5	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CTGGGCGTCGCGTTCCACATG	0.682													T	172166194	C	T	172166194	3	4	74	1	0	0	0	0	1	0	0	0	6375	768	27	1	1172	1	GHSR	3	172166194	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	50951	172166194	25856236	422	50693											
SOX2	6657	broad.mit.edu	37	chr3	181430415	181430415	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggagacggagaagcggccGttcatcgacgaggctaagcg	16	10	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:181430415G>A	uc003fkx.2	+	1	694	c.267G>A	c.(265-267)CCG>CCA	p.P89P	SOX2OT_uc003fkv.2_Intron|SOX2OT_uc003fkw.3_Intron	NM_003106	NP_003097	P48431	SOX2_HUMAN	sex-determining region Y-box 2	89	HMG box.				cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			AGAAGCGGCCGTTCATCGACG	0.597			A		NSCLC|oesophageal squamous carcinoma		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						A	181430415	G	A	181430415	2	1	74	1	0	0	0	0	0	0	0	1	14949	1132	40	1		1	SOX2	3	181430415	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	9264221	181430415	16592015	423	50694											
ATP11B	23200	broad.mit.edu	37	chr3	182614514	182614514	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaactggacatttggcacTttggtcttcacagtcatggt	11	8	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:182614514T>G	uc003flb.2	+	26	3266	c.3009T>G	c.(3007-3009)ACT>ACG	p.T1003T	ATP11B_uc003flc.2_Silent_p.T587T|ATP11B_uc010hxf.1_Silent_p.T165T|ATP11B_uc010hxg.2_5'Flank|ATP11B_uc010hxh.1_5'Flank	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1003	Helical; (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CATTTGGCACTTTGGTCTTCA	0.318													G	182614514	T	G	182614514	2	3	74	1	0	0	0	0	0	0	0	1	1120	1596	56	5		5	ATP11B	3	182614514	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	1184099	182614514	15407916	424	50695											
MCCC1	56922	broad.mit.edu	37	chr3	182735069	182735069	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttacctccatcttcatggcGatcataaccatgagggaatc	7	12	3	1	rs150305281		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:182735069G>A	uc003fle.2	-	18	2171	c.2034C>T	c.(2032-2034)ATC>ATT	p.I678I	MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Silent_p.I561I|MCCC1_uc003flg.2_Silent_p.I569I	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	678	Biotinyl-binding.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TCTTCATGGCGATCATAACCA	0.378													A	182735069	G	A	182735069	2	1	74	1	0	0	0	0	0	0	0	1	9374	1048	37	1		1	MCCC1	3	182735069	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	120555	182735069	15287361	425	50696											
KLHL6	89857	broad.mit.edu	37	chr3	183273230	183273230	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacacaagatgacatctgtcAgagcgttttccattcgcagg	9	11	2	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:183273230A>G	uc003flr.2	-	1	270	c.212T>C	c.(211-213)CTG>CCG	p.L71P	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Missense_Mutation_p.L69P	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	71										haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GACATCTGTCAGAGCGTTTTC	0.502													G	183273230	A	G	183273230	3	3	74	1	0	0	0	0	1	0	0	0	8393	188	7	3	1681	3	KLHL6	3	183273230	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	538161	183273230	14749200	426	50697											
ABCC5	10057	broad.mit.edu	37	chr3	183667870	183667870	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaagaacaccaggataacGttctggatgaacatctcggc	10	10	2	3	rs111257210		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:183667870G>A	uc003fmg.2	-	21	3153	c.2988C>T	c.(2986-2988)AAC>AAT	p.N996N	ABCC5_uc011bqt.1_Silent_p.N524N|ABCC5_uc010hxl.2_Silent_p.N996N	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	996	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCAGGATAACGTTCTGGATGA	0.502													A	183667870	G	A	183667870	2	1	74	1	0	0	0	0	0	0	0	1	56	1136	40	1		1	ABCC5	3	183667870	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	394640	183667870	14354560	427	50698											
HTR3E	285242	broad.mit.edu	37	chr3	183824131	183824131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacccccacccacctgcccGgtgagggaagtcacattcct	8	18	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:183824131G>A	uc010hxq.2	+	8	1607	c.1141G>A	c.(1141-1143)GGT>AGT	p.G381S	HTR3E_uc003fml.3_Missense_Mutation_p.G366S|HTR3E_uc003fmm.2_Missense_Mutation_p.G396S|HTR3E_uc010hxr.2_Missense_Mutation_p.G407S|HTR3E_uc003fmn.2_Missense_Mutation_p.G381S	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	381	Cytoplasmic (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCACCTGCCCGGTGAGGGAAG	0.448													A	183824131	G	A	183824131	3	1	74	1	0	0	0	0	1	0	0	0	7448	1130	39	1	1212	1	HTR3E	3	183824131	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	156261	183824131	14198299	428	50699											
EIF4G1	1981	broad.mit.edu	37	chr3	184044406	184044406	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggaggctcaggagccaagcCctcagacgcaggtatggagg	16	11	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:184044406C>A	uc003fnp.2	+	22	3512	c.3314C>A	c.(3313-3315)CCC>CAC	p.P1105H	EIF4G1_uc003fnt.2_Missense_Mutation_p.P816H|EIF4G1_uc003fnq.2_Missense_Mutation_p.P1018H|EIF4G1_uc003fnr.2_Missense_Mutation_p.P941H|EIF4G1_uc010hxx.2_Missense_Mutation_p.P1112H|EIF4G1_uc003fns.2_Missense_Mutation_p.P1065H|EIF4G1_uc010hxy.2_Missense_Mutation_p.P1112H|EIF4G1_uc003fnv.3_Missense_Mutation_p.P1106H|EIF4G1_uc003fnu.3_Missense_Mutation_p.P1105H|EIF4G1_uc003fnw.2_Missense_Mutation_p.P1112H|EIF4G1_uc003fnx.2_Missense_Mutation_p.P910H|EIF4G1_uc003fny.3_Missense_Mutation_p.P909H|EIF4G1_uc003foa.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1105					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGCCAAGCCCTCAGACGCA	0.587													A	184044406	C	A	184044406	3	1	74	1	0	0	0	0	1	0	0	0	5036	623	22	5	3392	5	EIF4G1	3	184044406	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	220275	184044406	13978024	429	50700											
TPRG1	285386	broad.mit.edu	37	chr3	189038562	189038562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgtcattcattggaaacCgcaacaaacttggctattcc	7	10	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:189038562C>T	uc003frv.1	+	11	2008	c.781C>T	c.(781-783)CGC>TGC	p.R261C	TPRG1_uc003frw.1_Missense_Mutation_p.R261C	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	261											0	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CATTGGAAACCGCAACAAACT	0.408													T	189038562	C	T	189038562	3	4	74	1	0	0	0	0	1	0	0	0	16415	652	23	1	799	1	TPRG1	3	189038562	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	4994156	189038562	8983868	430	50701											
LEPREL1	55214	broad.mit.edu	37	chr3	189838054	189838054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtaccttgatgtaggccCgctgcaggtagttgtagggc	16	8	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:189838054C>T	uc011bsk.1	-	1	855	c.467G>A	c.(466-468)CGG>CAG	p.R156Q	LEPREL1_uc003fsg.2_Intron	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	156	TPR 2.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GATGTAGGCCCGCTGCAGGTA	0.662													T	189838054	C	T	189838054	3	4	74	1	0	0	0	0	1	0	0	0	8730	652	23	1	1719	1	LEPREL1	3	189838054	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	799492	189838054	8184376	431	50702											
UTS2D	257313	broad.mit.edu	37	chr3	190995910	190995910	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttattcagtagagccagCaatagttcctcacgatttgt	7	8	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:190995910C>T	uc003fsu.2	-	6	940	c.153G>A	c.(151-153)TTG>TTA	p.L51L		NM_198152	NP_937795	Q765I0	UTS2B_HUMAN	urotensin 2 domain containing precursor	51						extracellular region	hormone activity				0	all_cancers(143;1.77e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000214)		GTAGAGCCAGCAATAGTTCCT	0.269													T	190995910	C	T	190995910	2	4	74	1	0	0	0	0	0	0	0	1	17102	709	25	2		2	UTS2D	3	190995910	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1157856	190995910	7026520	432	50703											
MUC4	4585	broad.mit.edu	37	chr3	195498560	195498560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgaccagtggagaagtcaGcatcgtcccagaacggagcc	12	14	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:195498560G>A	uc011bto.1	-	6	13281	c.12821C>T	c.(12820-12822)GCT>GTT	p.A4274V	MUC4_uc003fuz.2_Silent_p.L82L|MUC4_uc003fva.2_5'UTR|MUC4_uc003fvb.2_5'UTR|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_5'UTR|MUC4_uc011bti.1_5'UTR|MUC4_uc011btj.1_Missense_Mutation_p.A143V|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_5'UTR|MUC4_uc011btm.1_Missense_Mutation_p.A143V|MUC4_uc011btn.1_5'UTR|MUC4_uc003fvo.2_Missense_Mutation_p.A166V|MUC4_uc003fvp.2_Missense_Mutation_p.A115V|MUC4_uc010hzu.1_Missense_Mutation_p.A1014V	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1159	NIDO.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGAGAAGTCAGCATCGTCCCA	0.592													A	195498560	G	A	195498560	3	1	74	1	0	0	0	0	1	0	0	0	9978	971	34	2	3117	2	MUC4	3	195498560	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	4502650	195498560	2523870	433	50704											
PCYT1A	5130	broad.mit.edu	37	chr3	195969488	195969490	+	In_Frame_Del	DEL	ATC	ATC	-													ccagcagatgaataaggaatAtcatcatgggctacaaaatc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:195969487_195969489TATC>T	uc003fwg.3	-	6	682_684	c.509_511GATA>A	c.(508-513)gatatt>gAtt	p.I171del	PCYT1A_uc003fwh.3_In_Frame_Del_p.I171del	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA.	171	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	GAATAAGGAATATCATCATGGGC	0.438													-	195969490	ATC	-	195969488	7	5	74	1	0	1	0	1	0	0	0	0	11610	446	16	0	609	0	PCYT1A	3	195969488	In_Frame_Del	DEL	ATC	TCGA-BR-8361-01A-11D-2340-08	470928	195969488	2052942	434	50705											
RNF168	165918	broad.mit.edu	37	chr3	196199488	196199488	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccttcatggtaccattcGgcaccacaggcacataacca	6	14	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:196199488G>A	uc003fwq.2	-	6	1456	c.918C>T	c.(916-918)GCC>GCT	p.A306A	RNF168_uc010iah.2_Silent_p.A139A|uc010iag.1_5'Flank	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	ring finger protein 168	306					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GGTACCATTCGGCACCACAGG	0.458													A	196199488	G	A	196199488	2	1	74	1	0	0	0	0	0	0	0	1	13459	1103	39	1		1	RNF168	3	196199488	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	230000	196199488	1822942	435	50706											
LRRC33	375387	broad.mit.edu	37	chr3	196388325	196388325	+	Frame_Shift_Del	DEL	G	G	-													ctgctgtggggtggatggctGgggggccctgcagcatgggc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:196388324_196388324TG>T	uc003fwv.3	+	2	1914	c.1810_1810TG>T	c.(1810-1812)tggfs	p.W604fs		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	604						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GGTGGATGGCTGGGGGGCCCT	0.627													-	196388325	G	-	196388325	7	5	74	1	0	1	0	1	0	0	0	0	8988	1357	47	0	1817	0	LRRC33	3	196388325	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	188837	196388325	1634105	436	50707											
KIAA0226	9711	broad.mit.edu	37	chr3	197444928	197444928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccatacttagaccagaCgttggggctgttggttgata	12	9	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr3:197444928C>T	uc003fyc.2	-	2	322	c.139G>A	c.(139-141)GTC>ATC	p.V47I	KIAA0226_uc003fyd.3_5'UTR|KIAA0226_uc003fyf.2_Intron|KIAA0226_uc003fyg.2_Missense_Mutation_p.V40I	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	47					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TTAGACCAGACGTTGGGGCTG	0.527													T	197444928	C	T	197444928	3	4	74	1	0	0	0	0	1	0	0	0	8162	536	19	1	2904	1	KIAA0226	3	197444928	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1056603	197444928	577502	437	50708											
PDE6B	5158	broad.mit.edu	37	chr4	656917	656917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccttggctaagctccacGgctcctcgattttggagcgg	11	14	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:656917G>A	uc003gap.2	+	15	1914	c.1861G>A	c.(1861-1863)GGC>AGC	p.G621S	PDE6B_uc003gao.3_Missense_Mutation_p.G621S|PDE6B_uc011buy.1_Missense_Mutation_p.G342S|PDE6B_uc011buz.1_Missense_Mutation_p.G53S	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	621					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						TAAGCTCCACGGCTCCTCGAT	0.642													A	656917	G	A	656917	3	1	74	1	0	0	0	0	1	0	0	0	11646	1116	39	1	1919	1	PDE6B	4	656917	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08		656917	190497359	438	50709											
SLC26A1	10861	broad.mit.edu	37	chr4	985310	985310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcccgcgggcggtactgaCgcagccagcgcgtggcgggg	18	14	0	1	rs138449255	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:985310C>T	uc003gcb.2	-	3	560	c.182G>A	c.(181-183)CGT>CAT	p.R61H	SLC26A1_uc003gbx.2_Missense_Mutation_p.R61H|IDUA_uc003gby.2_Intron|IDUA_uc003gbz.2_Intron|IDUA_uc003gca.2_Intron|SLC26A1_uc003gcc.2_Missense_Mutation_p.R61H	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	solute carrier family 26, member 1 isoform a	61						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCGGTACTGACGCAGCCAGCG	0.677													T	985310	C	T	985310	3	4	74	1	0	0	0	0	1	0	0	0	14514	536	19	1	2034	1	SLC26A1	4	985310	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	328393	985310	190168966	439	50710											
POLN	353497	broad.mit.edu	37	chr4	2181141	2181141	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagagggtgtggcatcactaGgatctataagccatgcagca	12	8	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:2181141G>T	uc003ger.2	-	6	1073	c.1073C>A	c.(1072-1074)CCT>CAT	p.P358H	POLN_uc010ich.1_Intron|POLN_uc011bvi.1_Missense_Mutation_p.P358H	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	358					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GGCATCACTAGGATCTATAAG	0.363								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	2181141	G	T	2181141	3	4	74	1	0	0	0	0	1	0	0	0	12207	1000	35	5	1705	5	POLN	4	2181141	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1195831	2181141	188973135	440	50711											
POLN	353497	broad.mit.edu	37	chr4	2230912	2230912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgagcaacactggagagcGgtgtattacagagatcaaag	12	7	2	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:2230912G>A	uc003ger.2	-	1	47	c.47C>T	c.(46-48)CCG>CTG	p.P16L	POLN_uc011bvi.1_Missense_Mutation_p.P16L|HAUS3_uc011bvj.1_Intron|HAUS3_uc003ges.1_3'UTR|HAUS3_uc003get.1_3'UTR	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	16					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			ACTGGAGAGCGGTGTATTACA	0.343								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	2230912	G	A	2230912	3	1	74	1	0	0	0	0	1	0	0	0	12207	1116	39	1	2751	1	POLN	4	2230912	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	49771	2230912	188923364	441	50712											
GRK4	2868	broad.mit.edu	37	chr4	2986251	2986252	+	Frame_Shift_Ins	INS	-	-	A													aaattcaggaggatatggcaINSaaaaaagtggtcgtagtaaa					rs141511339		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:2986250_2986251C>CA	uc003ggn.1	+	1	518_519	c.63_64C>CA	c.(61-66)ggcaaafs	p.G21fs	GRK4_uc003ggo.1_Frame_Shift_Ins_p.G21fs|GRK4_uc003ggp.1_Intron|GRK4_uc003ggq.1_Intron	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	21	N-terminal.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGGATATGGCAAAAAAAGTGG	0.381													A	2986252	-	A	2986251	7	5	74	1	0	1	1	0	0	0	0	0	6791	131	5	0	70	0	GRK4	4	2986251	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	755339	2986251	188168025	442	50713											
RGS12	6002	broad.mit.edu	37	chr4	3318853	3318853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggttggttaccatgcagaCgaatgacgacgggagcctgg	16	9	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:3318853C>T	uc003ggw.2	+	2	1860	c.956C>T	c.(955-957)ACG>ATG	p.T319M	RGS12_uc003ggu.2_Missense_Mutation_p.T319M|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.T319M|RGS12_uc003ggx.1_Missense_Mutation_p.T319M	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	319	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCATGCAGACGAATGACGAC	0.622													T	3318853	C	T	3318853	3	4	74	1	0	0	0	0	1	0	0	0	13295	536	19	1	958	1	RGS12	4	3318853	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	332602	3318853	187835423	443	50714											
STK32B	55351	broad.mit.edu	37	chr4	5461854	5461854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccaaggatcctgagagcCgcgtgtccagccttcatgac	11	13	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:5461854C>T	uc003gih.1	+	9	872	c.808C>T	c.(808-810)CGC>TGC	p.R270C	STK32B_uc010ida.1_Missense_Mutation_p.R223C	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	270	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						TCCTGAGAGCCGCGTGTCCAG	0.567											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	5461854	C	T	5461854	3	4	74	1	0	0	0	0	1	0	0	0	15297	652	23	1	842	1	STK32B	4	5461854	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2143001	5461854	185692422	444	50715											
EVC2	132884	broad.mit.edu	37	chr4	5624499	5624499	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgggtcatggctgagtTctgcaggcgccgcagctcgt	14	13	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:5624499T>C	uc003gij.2	-	14	2320	c.2266A>G	c.(2266-2268)AAC>GAC	p.N756D	EVC2_uc011bwb.1_Missense_Mutation_p.N196D|EVC2_uc003gik.2_Missense_Mutation_p.N676D	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	756	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5						ATGGCTGAGTTCTGCAGGCGC	0.652													C	5624499	T	C	5624499	3	2	74	1	0	0	0	0	1	0	0	0	5286	1783	62	3	1696	3	EVC2	4	5624499	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	162645	5624499	185529777	445	50716											
JAKMIP1	152789	broad.mit.edu	37	chr4	6043924	6043924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatcttctgggtcagggCggcctcggtcccctctattt	11	14	4	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:6043924C>T	uc010idb.1	-	17	2545	c.2059G>A	c.(2059-2061)GCC>ACC	p.A687T	JAKMIP1_uc010idc.1_Missense_Mutation_p.A502T|JAKMIP1_uc010idd.1_Intron	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						TGGGTCAGGGCGGCCTCGGTC	0.542													T	6043924	C	T	6043924	3	4	74	1	0	0	0	0	1	0	0	0	7940	768	27	1	456	1	JAKMIP1	4	6043924	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	419425	6043924	185110352	446	50717											
JAKMIP1	152789	broad.mit.edu	37	chr4	6066712	6066713	+	Frame_Shift_Ins	INS	-	-	A													cagactcctcatcaaatccaINSaaaaatgtctccacaacatg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:6066711_6066712C>CA	uc010idb.1	-	8	1812_1813	c.1326_1327G>TG	c.(1324-1329)tttggafs	p.F442fs	JAKMIP1_uc010idc.1_Frame_Shift_Ins_p.F257fs|JAKMIP1_uc010idd.1_Frame_Shift_Ins_p.F442fs|JAKMIP1_uc003giu.4_Frame_Shift_Ins_p.F442fs|JAKMIP1_uc011bwc.2_Frame_Shift_Ins_p.F277fs|JAKMIP1_uc003giv.4_Frame_Shift_Ins_p.F442fs|JAKMIP1_uc010ide.3_Frame_Shift_Ins_p.F442fs	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	442	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCATCAAATCCAAAAAATGTCT	0.49													A	6066713	-	A	6066712	7	5	74	1	0	1	1	0	0	0	0	0	7940	127	5	0	1296	0	JAKMIP1	4	6066712	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	22788	6066712	185087564	447	50718											
MAN2B2	23324	broad.mit.edu	37	chr4	6606969	6606969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagacgcaccagccatgCgggcaggtacttggtgcctg	16	11	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:6606969C>T	uc003gjf.1	+	11	1763	c.1727C>T	c.(1726-1728)GCG>GTG	p.A576V	MAN2B2_uc003gje.1_Missense_Mutation_p.A576V|MAN2B2_uc011bwf.1_Missense_Mutation_p.A525V	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	576					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						ACCAGCCATGCGGGCAGGTAC	0.622													T	6606969	C	T	6606969	3	4	74	1	0	0	0	0	1	0	0	0	9217	768	27	1	1769	1	MAN2B2	4	6606969	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	540257	6606969	184547307	448	50719											
NKX3-2	579	broad.mit.edu	37	chr4	13545732	13545732	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccgcgcagcgccgcctgcTctcgttctcctcgctgagcg	12	18	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:13545732T>C	uc003gmx.2	-	1	383	c.307A>G	c.(307-309)AGC>GGC	p.S103G		NM_001189	NP_001180	P78367	NKX32_HUMAN	NK3 homeobox 2	103					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						cgccgccTGCTCTCGTTCTCC	0.537													C	13545732	T	C	13545732	3	2	74	1	0	0	0	0	1	0	0	0	10456	1551	54	3	702	3	NKX3-2	4	13545732	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	6938763	13545732	177608544	449	50720											
C1QTNF7	114905	broad.mit.edu	37	chr4	15444274	15444274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagtcatctatctgcagCcagaagatgaagtctggctg	10	11	4	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:15444274C>T	uc011bxb.1	+	3	948	c.721C>T	c.(721-723)CCA>TCA	p.P241S	C1QTNF7_uc003gno.2_Missense_Mutation_p.P248S|C1QTNF7_uc003gnp.2_Missense_Mutation_p.P241S	NM_001135171	NP_001128643	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	241	C1q.					collagen					0						CTATCTGCAGCCAGAAGATGA	0.498													T	15444274	C	T	15444274	3	4	74	1	0	0	0	0	1	0	0	0	1968	739	26	2	752	2	C1QTNF7	4	15444274	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1898542	15444274	175710002	450	50721											
CC2D2A	57545	broad.mit.edu	37	chr4	15572057	15572057	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggaatccatactcgtAttgagagacactggctggga	13	7	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:15572057A>G	uc010idv.2	+	29	3777	c.3532A>G	c.(3532-3534)ATT>GTT	p.I1178V	CC2D2A_uc003gnx.2_Missense_Mutation_p.I1129V|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	1178					cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3						CCATACTCGTATTGAGAGACA	0.408													G	15572057	A	G	15572057	3	3	74	1	0	0	0	0	1	0	0	0	2728	449	16	3	3841	3	CC2D2A	4	15572057	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	127783	15572057	175582219	451	50722											
DCAF16	54876	broad.mit.edu	37	chr4	17805513	17805513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagtatatggactggtgtGcttggatccaacagtttagc	12	7	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:17805513G>A	uc003gpn.2	-	3	1313	c.252C>T	c.(250-252)AGC>AGT	p.S84S	DCAF16_uc003gpo.2_RNA	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	84						CUL4 RING ubiquitin ligase complex				ovary(1)	1						GGACTGGTGTGCTTGGATCCA	0.448													A	17805513	G	A	17805513	2	1	74	1	0	0	0	0	0	0	0	1	4268	1310	46	2		2	DCAF16	4	17805513	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2233456	17805513	173348763	452	50723											
SLIT2	9353	broad.mit.edu	37	chr4	20525728	20525728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgattgagaccagtggtgccCgttgcaccagcccccgccgc	12	17	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:20525728C>T	uc003gpr.1	+	14	1570	c.1366C>T	c.(1366-1368)CGT>TGT	p.R456C	SLIT2_uc003gps.1_Missense_Mutation_p.R456C	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	456	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						CAGTGGTGCCCGTTGCACCAG	0.488													T	20525728	C	T	20525728	3	4	74	1	0	0	0	0	1	0	0	0	14740	652	23	1	1420	1	SLIT2	4	20525728	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2720215	20525728	170628548	453	50724											
SEL1L3	23231	broad.mit.edu	37	chr4	25806253	25806253	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatccacagcagctggaatcCgtcagaaaggggacgataga	12	9	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:25806253C>T	uc003gru.3	-	10	1838	c.1686G>A	c.(1684-1686)ACG>ACA	p.T562T	SEL1L3_uc003grv.2_5'UTR	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	562						integral to membrane	binding				0						AGCTGGAATCCGTCAGAAAGG	0.438													T	25806253	C	T	25806253	2	4	74	1	0	0	0	0	0	0	0	1	14012	639	23	1		1	SEL1L3	4	25806253	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	5280525	25806253	165348023	454	50725											
TBC1D1	23216	broad.mit.edu	37	chr4	38138782	38138782	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggtaggatccaaagcctTgaggccaccattgagaagct	11	9	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:38138782T>C	uc003gtb.2	+	20	3676	c.3333T>C	c.(3331-3333)CTT>CTC	p.L1111L	TBC1D1_uc011byd.1_Silent_p.L1102L|TBC1D1_uc010ifd.2_Silent_p.L898L|TBC1D1_uc003gtd.2_Silent_p.L123L	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	1111						nucleus	Rab GTPase activator activity			ovary(1)	1						TCCAAAGCCTTGAGGCCACCA	0.532													C	38138782	T	C	38138782	2	2	74	1	0	0	0	0	0	0	0	1	15594	1799	63	3		3	TBC1D1	4	38138782	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	12332529	38138782	153015494	455	50726											
RFC1	5981	broad.mit.edu	37	chr4	39318611	39318611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataagcttgataattagtgCgtttcttttcagaatcttca	7	6	4	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:39318611C>T	uc003gty.1	-	10	1261	c.1127G>A	c.(1126-1128)CGC>CAC	p.R376H	RFC1_uc003gtx.1_Missense_Mutation_p.R376H	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	376					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4						ATAATTAGTGCGTTTCTTTTC	0.388													T	39318611	C	T	39318611	3	4	74	1	0	0	0	0	1	0	0	0	13244	768	27	1	2380	1	RFC1	4	39318611	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1179829	39318611	151835665	456	50727											
KLB	152831	broad.mit.edu	37	chr4	39408649	39408649	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaaataaccacacgctataGgaatacaatgtccaacgggg	9	9	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:39408649G>T	uc003gua.2	+	1	177	c.80G>T	c.(79-81)AGG>ATG	p.R27M	KLB_uc011byj.1_Missense_Mutation_p.R27M	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	27	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						ACACGCTATAGGAATACAATG	0.473													T	39408649	G	T	39408649	3	4	74	1	0	0	0	0	1	0	0	0	8332	1000	35	5	82	5	KLB	4	39408649	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	90038	39408649	151745627	457	50728											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984733	41984733	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaaatgtgtaaggcagtaCgaaggtcacgtgaatgagtc	12	6	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:41984733C>T	uc003gwk.2	+	1	1021	c.924C>T	c.(922-924)TAC>TAT	p.Y308Y		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	WD repeat domain 21B	308										skin(1)	1						TAAGGCAGTACGAAGGTCACG	0.532													T	41984733	C	T	41984733	2	4	74	1	0	0	0	0	0	0	0	1	4271	547	19	1		1	DCAF4L1	4	41984733	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2576084	41984733	149169543	458	50729											
ATP8A1	10396	broad.mit.edu	37	chr4	42414995	42414995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcacttcagactgtgaaaCgattccattttcatcttgag	6	9	4	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:42414995C>T	uc003gwr.2	-	37	3665	c.3433G>A	c.(3433-3435)GTT>ATT	p.V1145I	ATP8A1_uc003gwq.2_Missense_Mutation_p.V371I|ATP8A1_uc003gws.2_Missense_Mutation_p.V1130I	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	1145	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)	GACTGTGAAACGATTCCATTT	0.438													T	42414995	C	T	42414995	3	4	74	1	0	0	0	0	1	0	0	0	1192	536	19	1	65	1	ATP8A1	4	42414995	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	430262	42414995	148739281	459	50730											
GABRA4	2557	broad.mit.edu	37	chr4	46967009	46967009	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggggcttcaggatgcTtctctctctgcactggagca	13	11	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:46967009T>G	uc003gxg.2	-	8	1251	c.1112A>C	c.(1111-1113)AAG>ACG	p.K371T		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	371	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCAGGATGCTTCTCTCTCTG	0.428													G	46967009	T	G	46967009	3	3	74	1	0	0	0	0	1	0	0	0	6163	1609	56	5	560	5	GABRA4	4	46967009	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	4552014	46967009	144187267	460	50731											
GABRA4	2557	broad.mit.edu	37	chr4	46995418	46995418	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcggacagagcgatcgcGggtaccttcttggcagaaac	14	12	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:46995418G>A	uc003gxg.2	-	1	163	c.24C>T	c.(22-24)CCC>CCT	p.P8P		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	8					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAGCGATCGCGGGTACCTTCT	0.592													A	46995418	G	A	46995418	2	1	74	1	0	0	0	0	0	0	0	1	6163	1103	39	1		1	GABRA4	4	46995418	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	28409	46995418	144158858	461	50732											
CORIN	10699	broad.mit.edu	37	chr4	47663848	47663848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaagaacagactcacagcGttctttagagtgttcacaca	7	12	3	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:47663848G>A	uc003gxm.2	-	12	1708	c.1615C>T	c.(1615-1617)CGC>TGC	p.R539C	CORIN_uc011bzf.1_Missense_Mutation_p.R400C|CORIN_uc011bzg.1_Missense_Mutation_p.R472C|CORIN_uc011bzh.1_Missense_Mutation_p.R502C|CORIN_uc011bzi.1_Missense_Mutation_p.R502C	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	539	Extracellular (Potential).|FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2						GACTCACAGCGTTCTTTAGAG	0.413													A	47663848	G	A	47663848	3	1	74	1	0	0	0	0	1	0	0	0	3752	1145	40	1	1557	1	CORIN	4	47663848	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	668430	47663848	143490428	462	50733											
CWH43	80157	broad.mit.edu	37	chr4	49063827	49063827	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatttattttttatttttttAgatttggatcctacaaagaa	4	3	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:49063827A>T	uc003gyv.2	+	16	2204	c.2022_splice	c.e16-2	p.R674_splice	CWH43_uc011bzl.1_Splice_Site_p.R647_splice	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog						GPI anchor biosynthetic process	integral to membrane				skin(2)|ovary(1)	3						ttatttttttaGATTTGGATC	0.234													T	49063827	A	T	49063827	5	4	74	1	0	0	0	0	0	0	1	0	4073	434	15	5	2082	5	CWH43	4	49063827	Splice_Site	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1399979	49063827	142090449	463	50734											
SPATA18	132671	broad.mit.edu	37	chr4	52938115	52938115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagctcaggaggatgcccGccacagaaacacagatcaga	10	12	3	3	rs142158631		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:52938115G>A	uc003gzl.2	+	6	829	c.551G>A	c.(550-552)CGC>CAC	p.R184H	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.R152H|SPATA18_uc003gzk.1_Missense_Mutation_p.R184H	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	184	Potential.				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GAGGATGCCCGCCACAGAAAC	0.383													A	52938115	G	A	52938115	3	1	74	1	0	0	0	0	1	0	0	0	15002	1087	38	1	573	1	SPATA18	4	52938115	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	3874288	52938115	138216161	464	50735											
POLR2B	5431	broad.mit.edu	37	chr4	57897132	57897132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttatgtctatgagtattgCaccgcgaatgatgagtgttt	10	6	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:57897132C>T	uc003hcl.1	+	25	3546	c.3503C>T	c.(3502-3504)GCA>GTA	p.A1168V	POLR2B_uc011cae.1_Missense_Mutation_p.A1161V|POLR2B_uc011caf.1_Missense_Mutation_p.A1093V|POLR2B_uc003hcm.1_Missense_Mutation_p.A661V	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	1168					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)					ATGAGTATTGCACCGCGAATG	0.333													T	57897132	C	T	57897132	3	4	74	1	0	0	0	0	1	0	0	0	12215	710	25	2	3601	2	POLR2B	4	57897132	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	4959017	57897132	133257144	465	50736											
SMR3A	26952	broad.mit.edu	37	chr4	71232432	71232432	+	Frame_Shift_Del	DEL	T	T	-													gctcctcctcctccaccatgTtttccttttggaacaggatt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:71232432delT	uc003hfg.1	+	3	207	c.126delT	c.(124-126)TGTfs	p.C42fs	SMR3B_uc011cas.1_Intron	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3	42	Pro-rich.					extracellular region					0		all_hematologic(202;0.196)				CTCCACCATGTTTTCCTTTTG	0.517													-	71232432	T	-	71232432	7	5	74	1	0	1	0	1	0	0	0	0	14811	1731	60	0	132	0	SMR3A	4	71232432	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	13335300	71232432	119921844	466	50737											
MUC7	4589	broad.mit.edu	37	chr4	71347244	71347244	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagagaccacagctgtcccAcccacaccttctgcaactac	5	19	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:71347244A>G	uc011cat.1	+	4	1071	c.783A>G	c.(781-783)CCA>CCG	p.P261P	MUC7_uc011cau.1_Silent_p.P261P|MUC7_uc003hfj.2_Silent_p.P261P|uc011cav.1_Intron	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	261	Thr-rich.|5.					extracellular region	protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4			Lung(101;0.211)			CAGCTGTCCCACCCACACCTT	0.597													G	71347244	A	G	71347244	2	3	74	1	0	0	0	0	0	0	0	1	9981	146	6	3		3	MUC7	4	71347244	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	114812	71347244	119807032	467	50738											
AMBN	258	broad.mit.edu	37	chr4	71472425	71472425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgagatgatgcatgacgCatggcatttccaagagccct	11	12	0	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:71472425C>T	uc003hfl.2	+	13	1397	c.1322C>T	c.(1321-1323)GCA>GTA	p.A441V		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	ameloblastin precursor	441					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			ovary(3)|skin(1)	4			Lung(101;0.235)			ATGCATGACGCATGGCATTTC	0.488													T	71472425	C	T	71472425	3	4	74	1	0	0	0	0	1	0	0	0	563	710	25	2	1372	2	AMBN	4	71472425	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	125181	71472425	119681851	468	50739											
FRAS1	80144	broad.mit.edu	37	chr4	79400610	79400610	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctctatgctctagaatcAggctctgattttaaatctag	7	9	5	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:79400610A>G	uc003hlb.2	+	56	8621	c.8181A>G	c.(8179-8181)TCA>TCG	p.S2727S		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2722	Extracellular (Potential).|Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						CTCTAGAATCAGGCTCTGATT	0.458													G	79400610	A	G	79400610	2	3	74	1	0	0	0	0	0	0	0	1	6042	175	7	3		3	FRAS1	4	79400610	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	7928185	79400610	111753666	469	50740											
C4orf36	132989	broad.mit.edu	37	chr4	87808944	87808944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggtcttctcaaaccgGctggcctttccctcaggaga	11	12	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:87808944G>A	uc003hqe.3	-	4	636	c.323C>T	c.(322-324)GCC>GTC	p.A108V		NM_144645	NP_653246	Q96KX1	CD036_HUMAN	hypothetical protein LOC132989	108											0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		TCTCAAACCGGCTGGCCTTTC	0.428													A	87808944	G	A	87808944	3	1	74	1	0	0	0	0	1	0	0	0	2266	1203	42	2	34	2	C4orf36	4	87808944	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	8408334	87808944	103345332	470	50741											
MANBA	4126	broad.mit.edu	37	chr4	103595217	103595217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctataagttccactgtcCtaaaataaacctgcaatgaa	4	10	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:103595217C>T	uc003hwg.2	-	8	1071	c.971G>A	c.(970-972)AGG>AAG	p.R324K	MANBA_uc011ces.1_Missense_Mutation_p.R267K	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor	324					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TTCCACTGTCCTAAAATAAAC	0.294													T	103595217	C	T	103595217	3	4	74	1	0	0	0	0	1	0	0	0	9219	681	24	4	1708	4	MANBA	4	103595217	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	15786273	103595217	87559059	471	50742											
TACR3	6870	broad.mit.edu	37	chr4	104512789	104512789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgaagtaaatatgataggGcagccagcagatagcaaatg	11	5	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:104512789G>A	uc003hxe.1	-	4	1083	c.940C>T	c.(940-942)CCC>TCC	p.P314S		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	314	Helical; Name=6; (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATATGATAGGGCAGCCAGCAG	0.343													A	104512789	G	A	104512789	3	1	74	1	0	0	0	0	1	0	0	0	15504	1203	42	2	465	2	TACR3	4	104512789	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	917572	104512789	86641487	472	50743											
HADH	3033	broad.mit.edu	37	chr4	108935649	108935649	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagcacggatgcagcctcCgttgtccacagcacagactt	9	15	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:108935649C>T	uc003hyq.2	+	3	473	c.324C>T	c.(322-324)TCC>TCT	p.S108S	HADH_uc010ilx.2_Silent_p.S108S|HADH_uc010ily.2_Intron|HADH_uc003hyr.2_Silent_p.S112S	NM_005327	NP_005318	Q16836	HCDH_HUMAN	L-3-hydroxyacyl-Coenzyme A dehydrogenase	108					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	ATGCAGCCTCCGTTGTCCACA	0.532													T	108935649	C	T	108935649	2	4	74	1	0	0	0	0	0	0	0	1	6942	639	23	1		1	HADH	4	108935649	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	4422860	108935649	82218627	473	50744											
ALPK1	80216	broad.mit.edu	37	chr4	113333097	113333097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaaaacttctgcaggtcGccaaaggtctccacaagttg	10	11	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:113333097G>A	uc003iap.3	+	5	670	c.391G>A	c.(391-393)GCC>ACC	p.A131T	ALPK1_uc011cfw.1_RNA|ALPK1_uc003ian.3_Missense_Mutation_p.A131T|ALPK1_uc011cfx.1_Missense_Mutation_p.A53T|ALPK1_uc003iao.3_RNA|ALPK1_uc003iaq.2_Missense_Mutation_p.A75T|ALPK1_uc010imo.2_5'UTR|ALPK1_uc003iar.2_Missense_Mutation_p.A101T	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	131							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TCTGCAGGTCGCCAAAGGTCT	0.597													A	113333097	G	A	113333097	3	1	74	1	0	0	0	0	1	0	0	0	544	1087	38	1	401	1	ALPK1	4	113333097	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	4397448	113333097	77821179	474	50745											
NDST4	64579	broad.mit.edu	37	chr4	115998005	115998005	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttaactgttttcagctccAttgacctatatggtagaatt	7	7	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:115998005A>G	uc003ibu.2	-	2	867	c.188T>C	c.(187-189)ATG>ACG	p.M63T	NDST4_uc010imw.2_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	63	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTTCAGCTCCATTGACCTATA	0.413													G	115998005	A	G	115998005	3	3	74	1	0	0	0	0	1	0	0	0	10258	217	8	3	2482	3	NDST4	4	115998005	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	2664908	115998005	75156271	475	50746											
BBS12	166379	broad.mit.edu	37	chr4	123663688	123663688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcagataacaacacatcacGaactctgaaaaacagcctgc	6	12	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:123663688G>A	uc003ieu.2	+	2	834	c.641G>A	c.(640-642)CGA>CAA	p.R214Q		NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	214					cellular protein metabolic process	cilium	ATP binding			ovary(2)	2						AACACATCACGAACTCTGAAA	0.398									Bardet-Biedl_syndrome				A	123663688	G	A	123663688	3	1	74	1	0	0	0	0	1	0	0	0	1337	1058	37	1	643	1	BBS12	4	123663688	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	7665683	123663688	67490588	476	50747											
PCDH10	57575	broad.mit.edu	37	chr4	134072881	134072881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctacttgtacgccctgcGctccttcgactatgagcagc	10	15	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:134072881G>A	uc003iha.2	+	1	2412	c.1586G>A	c.(1585-1587)CGC>CAC	p.R529H	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R529H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	529	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TACGCCCTGCGCTCCTTCGAC	0.577													A	134072881	G	A	134072881	3	1	74	1	0	0	0	0	1	0	0	0	11507	1087	38	1	1588	1	PCDH10	4	134072881	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	10409193	134072881	57081395	477	50748											
CLGN	1047	broad.mit.edu	37	chr4	141313501	141313502	+	Frame_Shift_Ins	INS	-	-	T													ttgtggtatacatatgtcggINStttttttatactctgtatct							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:141313501_141313502insT	uc011chi.1	-	14	1740_1741	c.1522_1523insA	c.(1522-1524)ACCfs	p.T508fs	CLGN_uc003iii.2_Frame_Shift_Ins_p.T508fs	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	508	Cytoplasmic (Potential).				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)					ACATATGTCGGTTTTTTTATAC	0.327													T	141313502	-	T	141313501	7	5	74	1	0	1	1	0	0	0	0	0	3524	1261	44	0	321	0	CLGN	4	141313501	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	7240620	141313501	49840775	478	50749	204	2									
CLGN	1047	broad.mit.edu	37	chr4	141313502	141313503	+	Frame_Shift_Ins	INS	-	-	T													tgtggtatacatatgtcggtINSttttttatactctgtatctt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:141313501_141313502G>GT	uc011chi.2	-	13	1740_1741	c.1522_1523C>AC	c.(1522-1524)accfs	p.T508fs	CLGN_uc003iii.3_Frame_Shift_Ins_p.T508fs	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	508					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					ACATATGTCGGTTTTTTTATAC	0.327													T	141313503	-	T	141313502	7	5	74	1	0	1	1	0	0	0	0	0	3524	1725	60	0	322	0	CLGN	4	141313502	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1	141313502	49840774	479	50750	204	2									
FBXW7	55294	broad.mit.edu	37	chr4	153244156	153244156	+	Frame_Shift_Del	DEL	C	C	-													cgccacacaactcccccactCcccccactctccaatgtgac					rs7679116		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:153244155_153244155TC>T	uc003ims.3	-	11	2164	c.2002_2002GA>A	c.(2002-2004)agtfs	p.S668fs	FBXW7_uc011cii.2_Frame_Shift_Del_p.S668fs|FBXW7_uc003imt.3_Frame_Shift_Del_p.S668fs|FBXW7_uc011cih.2_Frame_Shift_Del_p.S492fs|FBXW7_uc003imq.3_Frame_Shift_Del_p.S588fs|FBXW7_uc003imr.3_Frame_Shift_Del_p.S550fs	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	668			S -> G (in dbSNP:rs7679116).		SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.S668fs*26(3)|p.S668fs*39(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTCCCCCACTCCCCCCACTC	0.488			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								-	153244156	C	-	153244156	7	5	74	1	0	1	0	1	0	0	0	0	5769	842	30	0	126	0	FBXW7	4	153244156	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	11930654	153244156	37910120	480	50751											
TIGD4	201798	broad.mit.edu	37	chr4	153691554	153691554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccaactgaacatgtttcGcctttaaatgcaaatgtatt	5	8	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:153691554G>A	uc003imy.2	-	2	1385	c.603C>T	c.(601-603)GGC>GGT	p.G201G		NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	201	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			ovary(1)	1	all_hematologic(180;0.093)					AACATGTTTCGCCTTTAAATG	0.343													A	153691554	G	A	153691554	2	1	74	1	0	0	0	0	0	0	0	1	15895	1074	38	1		1	TIGD4	4	153691554	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	447398	153691554	37462722	481	50752											
FSTL5	56884	broad.mit.edu	37	chr4	162459350	162459350	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagagtcttccacaaaaagaGaagagatgtcttcatccact	7	10	3	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:162459350G>T	uc003iqh.2	-	10	1716	c.1280C>A	c.(1279-1281)TCT>TAT	p.S427Y	FSTL5_uc003iqi.2_Missense_Mutation_p.S426Y|FSTL5_uc010iqv.2_Missense_Mutation_p.S426Y	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	427						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CACAAAAAGAGAAGAGATGTC	0.408													T	162459350	G	T	162459350	3	4	74	1	0	0	0	0	1	0	0	0	6080	942	33	5	1291	5	FSTL5	4	162459350	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	8767796	162459350	28694926	482	50753											
NPY1R	4886	broad.mit.edu	37	chr4	164247331	164247331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccagagagaaaatggacaCagtgattgaaacacattgca	9	7	0	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:164247331C>T	uc003iqm.1	-	2	642	c.376G>A	c.(376-378)GTG>ATG	p.V126M	NPY1R_uc011cjj.1_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	126	Helical; Name=3; (Potential).				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			lung(1)|pancreas(1)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAAATGGACACAGTGATTGAA	0.428													T	164247331	C	T	164247331	3	4	74	1	0	0	0	0	1	0	0	0	10608	478	17	4	786	4	NPY1R	4	164247331	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1787981	164247331	26906945	483	50754											
WDR17	116966	broad.mit.edu	37	chr4	177082120	177082120	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcctaaaggagcttcatAttctgatgatatctacaagg	9	8	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:177082120A>G	uc003iuj.2	+	21	2945	c.2789A>G	c.(2788-2790)TAT>TGT	p.Y930C	WDR17_uc003iuk.2_Missense_Mutation_p.Y906C|WDR17_uc003ium.3_Missense_Mutation_p.Y906C|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.Y149C	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	930										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		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;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GGAGCTTCATATTCTGATGAT	0.343													G	177082120	A	G	177082120	3	3	74	1	0	0	0	0	1	0	0	0	17274	449	16	3	2867	3	WDR17	4	177082120	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	12834789	177082120	14072156	484	50755											
WDR17	116966	broad.mit.edu	37	chr4	177098716	177098716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaagaagagtcactgaaaGgaattattggaccagattat	9	4	1	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:177098716G>A	uc003iuj.2	+	30	3916	c.3760G>A	c.(3760-3762)GGA>AGA	p.G1254R	WDR17_uc003iuk.2_Missense_Mutation_p.G1230R|WDR17_uc003ium.3_Missense_Mutation_p.G1215R|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.G465R	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	1254										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		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;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GTCACTGAAAGGAATTATTGG	0.343													A	177098716	G	A	177098716	3	1	74	1	0	0	0	0	1	0	0	0	17274	1001	35	4	3874	4	WDR17	4	177098716	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	16596	177098716	14055560	485	50756											
WWC2	80014	broad.mit.edu	37	chr4	184166576	184166576	+	Frame_Shift_Del	DEL	A	A	-													tctcttttcacagaattgatAaaaaaatgtctggaggccag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:184166576delA	uc010irx.2	+	6	792	c.610delA	c.(610-612)AAAfs	p.K204fs	WWC2_uc003ivk.3_5'UTR|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Intron	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	204										ovary(2)|lung(1)	3		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CAGAATTGATAAAAAAATGTC	0.353													-	184166576	A	-	184166576	7	5	74	1	0	1	0	1	0	0	0	0	17409	363	13	0	632	0	WWC2	4	184166576	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	7067860	184166576	6987700	486	50757											
FAT1	2195	broad.mit.edu	37	chr4	187518870	187518870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgaatcacactgacaaaCggcgccatccaaactgtcaa	6	15	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:187518870C>T	uc003izf.2	-	24	12522	c.12334G>A	c.(12334-12336)GTT>ATT	p.V4112I	FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_5'Flank	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4112	Extracellular (Potential).|EGF-like 4.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CACTGACAAACGGCGCCATCC	0.428										HNSCC(5;0.00058)			T	187518870	C	T	187518870	3	4	74	1	0	0	0	0	1	0	0	0	5689	536	19	1	1448	1	FAT1	4	187518870	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3352294	187518870	3635406	487	50758											
FAT1	2195	broad.mit.edu	37	chr4	187532624	187532624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcatttgcttcaatatcccGacttgctgcatacacttgaa	6	11	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr4:187532624G>A	uc003izf.2	-	14	9957	c.9769C>T	c.(9769-9771)CGG>TGG	p.R3257W		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3257	Extracellular (Potential).|Cadherin 30.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TCAATATCCCGACTTGCTGCA	0.408										HNSCC(5;0.00058)			A	187532624	G	A	187532624	3	1	74	1	0	0	0	0	1	0	0	0	5689	1057	37	1	4053	1	FAT1	4	187532624	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	13754	187532624	3621652	488	50759											
TPPP	11076	broad.mit.edu	37	chr5	678052	678052	+	Frame_Shift_Del	DEL	C	C	-													gagctcaggggatgcggctgCcccctcaccagcaccctccg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:678052delC	uc003jbg.3	-	1	842	c.124delG	c.(124-126)GCAfs	p.A42fs	TPPP_uc003jbh.3_Frame_Shift_Del_p.A42fs	NM_007030	NP_008961	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	42	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding				0		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		GATGCGGCTGCCCCCTCACCA	0.697													-	678052	C	-	678052	7	5	74	1	0	1	0	1	0	0	0	0	16410	739	26	0	547	0	TPPP	5	678052	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08		678052	180237208	489	50760											
BRD9	65980	broad.mit.edu	37	chr5	881252	881252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctcggccgtgttgaccaCgctgtagagcaggctcccgt	14	14	0	2	rs145491306		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:881252C>T	uc003jbq.2	-	9	1179	c.1012G>A	c.(1012-1014)GTG>ATG	p.V338M	BRD9_uc003jbl.2_Missense_Mutation_p.V222M|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Missense_Mutation_p.V285M|BRD9_uc003jbo.2_Missense_Mutation_p.V242M|BRD9_uc003jbp.2_Intron|BRD9_uc011cmc.1_Intron	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	bromodomain containing 9 isoform 1	338							nucleic acid binding				0			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GTGTTGACCACGCTGTAGAGC	0.607													T	881252	C	T	881252	3	4	74	1	0	0	0	0	1	0	0	0	1507	536	19	1	813	1	BRD9	5	881252	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	203200	881252	180034008	490	50761											
BRD9	65980	broad.mit.edu	37	chr5	884147	884147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctctgcggtactgtccGtcaagctgcaggcattccct	10	15	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:884147G>A	uc003jbq.2	-	8	1039	c.872C>T	c.(871-873)ACG>ATG	p.T291M	BRD9_uc003jbl.2_Missense_Mutation_p.T175M|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Missense_Mutation_p.T238M|BRD9_uc003jbo.2_Missense_Mutation_p.T195M|BRD9_uc003jbp.2_5'Flank|BRD9_uc011cmc.1_RNA	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	bromodomain containing 9 isoform 1	291							nucleic acid binding				0			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GGTACTGTCCGTCAAGCTGCA	0.632													A	884147	G	A	884147	3	1	74	1	0	0	0	0	1	0	0	0	1507	1145	40	1	957	1	BRD9	5	884147	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2895	884147	180031113	491	50762											
IRX2	153572	broad.mit.edu	37	chr5	2748586	2748586	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgccgggggccgcggccgcAgagttgtaccgcaggagacc	17	14	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:2748586A>C	uc003jda.2	-	3	1478	c.1236T>G	c.(1234-1236)TCT>TCG	p.S412S	IRX2_uc003jdb.2_Silent_p.S412S	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	412						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		CCGCGGCCGCAGAGTTGTACC	0.711													C	2748586	A	C	2748586	2	2	74	1	0	0	0	0	0	0	0	1	7844	175	7	5		5	IRX2	5	2748586	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1864439	2748586	178166674	492	50763											
IRX1	79192	broad.mit.edu	37	chr5	3599762	3599762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatcgacattgacaagatcGacgagcacgatggcgaccag	12	11	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:3599762G>A	uc003jde.2	+	2	752	c.700G>A	c.(700-702)GAC>AAC	p.D234N		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	234						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						TGACAAGATCGACGAGCACGA	0.647													A	3599762	G	A	3599762	3	1	74	1	0	0	0	0	1	0	0	0	7843	1058	37	1	706	1	IRX1	5	3599762	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	851176	3599762	177315498	493	50764											
ADAMTS16	170690	broad.mit.edu	37	chr5	5306817	5306817	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgggaccctcgaggggcagCtggtttgcctcaccctggtc	15	14	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:5306817C>A	uc003jdl.2	+	21	3525	c.3387C>A	c.(3385-3387)AGC>AGA	p.S1129R		NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1129	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CGAGGGGCAGCTGGTTTGCCT	0.687													A	5306817	C	A	5306817	3	1	74	1	0	0	0	0	1	0	0	0	261	796	28	5	3469	5	ADAMTS16	5	5306817	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1707055	5306817	175608443	494	50765											
NSUN2	54888	broad.mit.edu	37	chr5	6600045	6600045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttgggcctgctcaccgGggtggatggacccccgccgg	16	15	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:6600045G>A	uc003jdu.2	-	19	2363	c.2298C>T	c.(2296-2298)CCC>CCT	p.P766P	NSUN2_uc003jds.2_Silent_p.P212P|NSUN2_uc003jdt.2_Silent_p.P530P|NSUN2_uc011cmk.1_Silent_p.P731P|NSUN2_uc003jdv.2_Silent_p.P530P	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	766						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1						CTGCTCACCGGGGTGGATGGA	0.627													A	6600045	G	A	6600045	2	1	74	1	0	0	0	0	0	0	0	1	10678	1219	43	4		4	NSUN2	5	6600045	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1293228	6600045	174315215	495	50766											
SRD5A1	6715	broad.mit.edu	37	chr5	6663023	6663023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggtctgtccaaggcgcGgcttttgctttcttcacgtt	11	11	3	0	rs144186538		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:6663023G>A	uc003jdw.2	+	4	847	c.657G>A	c.(655-657)GCG>GCA	p.A219A	SRD5A1_uc011cml.1_RNA|SRD5A1_uc011cmm.1_Silent_p.A172A	NM_001047	NP_001038	P18405	S5A1_HUMAN	steroid-5-alpha-reductase 1	219	Helical; (Potential).				androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity				0					Dutasteride(DB01126)|Finasteride(DB01216)	TCCAAGGCGCGGCTTTTGCTT	0.408													A	6663023	G	A	6663023	2	1	74	1	0	0	0	0	0	0	0	1	15137	1103	39	1		1	SRD5A1	5	6663023	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	62978	6663023	174252237	496	50767											
ADCY2	108	broad.mit.edu	37	chr5	7706929	7706929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgggaatgtcctgtgtggCgtgattggtctgcagaagtg	16	6	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:7706929C>T	uc003jdz.1	+	8	1249	c.1182C>T	c.(1180-1182)GGC>GGT	p.G394G	ADCY2_uc011cmo.1_Silent_p.G214G	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	394	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						TCCTGTGTGGCGTGATTGGTC	0.507													T	7706929	C	T	7706929	2	4	74	1	0	0	0	0	0	0	0	1	294	755	27	1		1	ADCY2	5	7706929	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1043906	7706929	173208331	497	50768											
MTRR	4552	broad.mit.edu	37	chr5	7889244	7889244	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggactataccagtgacAgtgctgaaaagcgcaggcta	12	8	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:7889244A>G	uc003jed.2	+	9	1294	c.1264A>G	c.(1264-1266)AGT>GGT	p.S422G	MTRR_uc003jee.3_Missense_Mutation_p.S395G|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	methionine synthase reductase isoform 2	422	FAD-binding FR-type.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TACCAGTGACAGTGCTGAAAA	0.483													G	7889244	A	G	7889244	3	3	74	1	0	0	0	0	1	0	0	0	9961	188	7	3	1298	3	MTRR	5	7889244	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	182315	7889244	173026016	498	50769											
SEMA5A	9037	broad.mit.edu	37	chr5	9122889	9122889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggcgctgccatctgtgtGcgtgcaaggcgtccacggag	15	13	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:9122889G>A	uc003jek.2	-	14	2372	c.1660C>T	c.(1660-1662)CAC>TAC	p.H554Y		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	554	Extracellular (Potential).|TSP type-1 1.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						CCATCTGTGTGCGTGCAAGGC	0.617													A	9122889	G	A	9122889	3	1	74	1	0	0	0	0	1	0	0	0	14037	1319	46	2	1604	2	SEMA5A	5	9122889	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1233645	9122889	171792371	499	50770											
ROPN1L	83853	broad.mit.edu	37	chr5	10461310	10461310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccagtccttgaacactgcGctgaagcacctgtgcgagat	10	13	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:10461310G>A	uc003jex.3	+	4	703	c.432G>A	c.(430-432)GCG>GCA	p.A144A		NM_031916	NP_114122	Q96C74	ROP1L_HUMAN	ropporin 1-like	144					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			ovary(1)	1						TGAACACTGCGCTGAAGCACC	0.557													A	10461310	G	A	10461310	2	1	74	1	0	0	0	0	0	0	0	1	13525	1074	38	1		1	ROPN1L	5	10461310	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1338421	10461310	170453950	500	50771											
CTNND2	1501	broad.mit.edu	37	chr5	10973727	10973727	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgatggtggacctggtcctcGaagaaggactcatcgtaatt	12	9	1	1	rs1566622	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:10973727G>A	uc003jfa.1	-	22	3661	c.3516C>T	c.(3514-3516)TTC>TTT	p.F1172F	CTNND2_uc010itt.2_Silent_p.F1081F|CTNND2_uc011cmy.1_Silent_p.F835F|CTNND2_uc011cmz.1_Silent_p.F739F|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.F764F	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1172					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.F1172F(1)		large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						CCTGGTCCTCGAAGAAGGACT	0.547													A	10973727	G	A	10973727	2	1	74	1	0	0	0	0	0	0	0	1	4020	1049	37	1		1	CTNND2	5	10973727	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	512417	10973727	169941533	501	50772											
CTNND2	1501	broad.mit.edu	37	chr5	11111073	11111073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagcccgtccagctcgtccGtgcccatgtgctgtccctga	11	16	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:11111073G>A	uc003jfa.1	-	14	2505	c.2360C>T	c.(2359-2361)ACG>ATG	p.T787M	CTNND2_uc010itt.2_Missense_Mutation_p.T696M|CTNND2_uc011cmy.1_Missense_Mutation_p.T450M|CTNND2_uc011cmz.1_Missense_Mutation_p.T354M|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.T354M	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	787					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						CAGCTCGTCCGTGCCCATGTG	0.542													A	11111073	G	A	11111073	3	1	74	1	0	0	0	0	1	0	0	0	4020	1145	40	1	1353	1	CTNND2	5	11111073	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	137346	11111073	169804187	502	50773											
CTNND2	1501	broad.mit.edu	37	chr5	11364912	11364912	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatagacgcggtcttcatagAtgggatctatgtggtgttct	13	6	4	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:11364912A>T	uc003jfa.1	-	8	1413	c.1268T>A	c.(1267-1269)ATC>AAC	p.I423N	CTNND2_uc010itt.2_Missense_Mutation_p.I332N|CTNND2_uc011cmy.1_Missense_Mutation_p.I86N|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	423	ARM 1.				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						GTCTTCATAGATGGGATCTAT	0.612													T	11364912	A	T	11364912	3	4	74	1	0	0	0	0	1	0	0	0	4020	333	12	5	2469	5	CTNND2	5	11364912	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	253839	11364912	169550348	503	50774											
CDH9	1007	broad.mit.edu	37	chr5	26881636	26881636	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccccgccgccttcatcgTtgtaggtcacaatgttgtcc	8	15	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:26881636T>C	uc003jgs.1	-	12	2148	c.1979A>G	c.(1978-1980)AAC>AGC	p.N660S	CDH9_uc011cnv.1_Missense_Mutation_p.N253S	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	660	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						GCCTTCATCGTTGTAGGTCAC	0.428													C	26881636	T	C	26881636	3	2	74	1	0	0	0	0	1	0	0	0	3117	1725	60	3	394	3	CDH9	5	26881636	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	15516724	26881636	154033624	504	50775											
CDH6	1004	broad.mit.edu	37	chr5	31299688	31299688	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attatctgggaccaccaccgTgaacatcacactgactgatg	8	12	2	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:31299688T>C	uc003jhe.1	+	5	1087	c.761T>C	c.(760-762)GTG>GCG	p.V254A	CDH6_uc003jhd.1_Missense_Mutation_p.V254A	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	254	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						ACCACCACCGTGAACATCACA	0.468													C	31299688	T	C	31299688	3	2	74	1	0	0	0	0	1	0	0	0	3114	1696	59	3	775	3	CDH6	5	31299688	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	4418052	31299688	149615572	505	50776											
PDZD2	23037	broad.mit.edu	37	chr5	32088318	32088318	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccgtgtgtctttgcacaaGgaagatccttcggagtcaga	11	10	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:32088318G>T	uc003jhl.2	+	20	5152	c.4764G>T	c.(4762-4764)AAG>AAT	p.K1588N	PDZD2_uc003jhm.2_Missense_Mutation_p.K1588N	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1588					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CTTTGCACAAGGAAGATCCTT	0.567													T	32088318	G	T	32088318	3	4	74	1	0	0	0	0	1	0	0	0	11701	991	35	5	4838	5	PDZD2	5	32088318	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	788630	32088318	148826942	506	50777											
ADAMTS12	81792	broad.mit.edu	37	chr5	33658359	33658359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcattgatgttacaactgcGgtgaggctgacacattcctg	10	9	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:33658359G>A	uc003jia.1	-	7	1283	c.1120C>T	c.(1120-1122)CGC>TGC	p.R374C	ADAMTS12_uc010iuq.1_Missense_Mutation_p.R374C	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	374	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TTACAACTGCGGTGAGGCTGA	0.507										HNSCC(64;0.19)			A	33658359	G	A	33658359	3	1	74	1	0	0	0	0	1	0	0	0	257	1116	39	1	3736	1	ADAMTS12	5	33658359	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1570041	33658359	147256901	507	50778											
FYB	2533	broad.mit.edu	37	chr5	39202091	39202091	+	Frame_Shift_Del	DEL	C	C	-													tcctgactttggccccatggCccccccactgtcagcttaga							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:39202090_39202090GC>G	uc003jls.3	-	0	1040	c.973_973GC>C	c.(973-975)ccafs	p.P325fs	FYB_uc003jlt.3_Frame_Shift_Del_p.P325fs|FYB_uc003jlu.3_Frame_Shift_Del_p.P325fs|FYB_uc011cpl.2_Frame_Shift_Del_p.P335fs	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	325					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding	p.P325A(4)|p.P335A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCCCATGGCCCCCCCACT	0.537													-	39202091	C	-	39202091	7	5	74	1	0	1	0	1	0	0	0	0	6124	726	26	0	1589	0	FYB	5	39202091	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	5543732	39202091	141713169	508	50779											
GHR	2690	broad.mit.edu	37	chr5	42719150	42719150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaggcagggatgtcccaatGtgacatgcacccggaaatgg	13	9	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:42719150G>A	uc003jmt.2	+	10	1584	c.1541G>A	c.(1540-1542)TGT>TAT	p.C514Y	GHR_uc011cpq.1_Missense_Mutation_p.C327Y	NM_000163	NP_000154	P10912	GHR_HUMAN	growth hormone receptor precursor	514	Cytoplasmic (Potential).				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			lung(4)|kidney(1)|skin(1)	6		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATGTCCCAATGTGACATGCAC	0.502													A	42719150	G	A	42719150	3	1	74	1	0	0	0	0	1	0	0	0	6371	1377	48	4	1575	4	GHR	5	42719150	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	3517059	42719150	138196110	509	50780											
HCN1	348980	broad.mit.edu	37	chr5	45303785	45303786	+	Frame_Shift_Ins	INS	-	-	T													ccgtgttgaatgaaatacatINSttttttacccacggctcctt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:45303784_45303785A>AT	uc003jok.3	-	5	1559_1560	c.1534_1535T>AT	c.(1534-1536)atgfs	p.M512fs		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	512						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.M512fs*17(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AATGAAATACATTTTTTTACCC	0.401													T	45303786	-	T	45303785	7	5	74	1	0	1	1	0	0	0	0	0	6996	1493	52	0	1150	0	HCN1	5	45303785	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	2584635	45303785	135611475	510	50781											
MOCS2	4338	broad.mit.edu	37	chr5	52402940	52402940	+	Frame_Shift_Del	DEL	G	G	-													aagcactatcctccactaatGggggggataacggcaatttc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:52402939_52402939TG>T	uc003joz.3	-	2	480	c.66_66CA>A	c.(64-66)ccafs	p.P22fs	MOCS2_uc011cqf.2_Frame_Shift_Del_p.I85fs|LOC257396_uc003jpb.2_5'Flank	NM_004531	NP_004522	O96033	MOC2A_HUMAN	Homo sapiens molybdenum cofactor synthesis 2 (MOCS2), transcript variant 3, mRNA.	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	p.P21P(1)		endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATA	0.428													-	52402940	G	-	52402940	7	5	74	1	0	1	0	1	0	0	0	0	9691	1348	47	0	521	0	MOCS2	5	52402940	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	7099155	52402940	128512320	511	50782											
ANKRD55	79722	broad.mit.edu	37	chr5	55396104	55396104	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattgcaggaagcactcggTttgtccgcagaggttctcca	12	10	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:55396104T>C	uc003jqu.2	-	12	1903	c.1751A>G	c.(1750-1752)AAC>AGC	p.N584S	ANKRD55_uc003jqt.2_Missense_Mutation_p.N296S	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	583										skin(1)	1		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				AAGCACTCGGTTTGTCCGCAG	0.458													C	55396104	T	C	55396104	3	2	74	1	0	0	0	0	1	0	0	0	681	1725	60	3	97	3	ANKRD55	5	55396104	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	2993164	55396104	125519156	512	50783											
RAB3C	115827	broad.mit.edu	37	chr5	57913586	57913586	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggggaaaacatcttttctAttccgttatgcagatgactc	9	8	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:57913586A>G	uc003jrp.2	+	2	238	c.141A>G	c.(139-141)CTA>CTG	p.L47L		NM_138453	NP_612462	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	47					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			ovary(1)|central_nervous_system(1)	2		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		CATCTTTTCTATTCCGTTATG	0.398													G	57913586	A	G	57913586	2	3	74	1	0	0	0	0	0	0	0	1	12933	436	16	3		3	RAB3C	5	57913586	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	2517482	57913586	123001674	513	50784											
HTR1A	3350	broad.mit.edu	37	chr5	63256724	63256724	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caccgcgccattggcgcacaGagcacccccagccttgctct	9	19	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:63256724G>T	uc011cqt.1	-	1	823	c.823C>A	c.(823-825)CTG>ATG	p.L275M		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	275	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TTGGCGCACAGAGCACCCCCA	0.652													T	63256724	G	T	63256724	3	4	74	1	0	0	0	0	1	0	0	0	7436	933	33	5	448	5	HTR1A	5	63256724	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	5343138	63256724	117658536	514	50785											
HTR1A	3350	broad.mit.edu	37	chr5	63257082	63257082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaagtgagcgagatgagCgcagcggcgcgccggggcgt	19	11	0	3	rs115753404	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:63257082C>T	uc011cqt.1	-	1	465	c.465G>A	c.(463-465)GCG>GCA	p.A155A		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	155	Helical; Name=4; (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCGAGATGAGCGCAGCGGCGC	0.647													T	63257082	C	T	63257082	2	4	74	1	0	0	0	0	0	0	0	1	7436	755	27	1		1	HTR1A	5	63257082	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	358	63257082	117658178	515	50786											
RNF180	285671	broad.mit.edu	37	chr5	63509644	63509644	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgaaaacagaaatcacaGgcttttaaacatggcccgaa	7	10	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:63509644G>T	uc003jti.2	+	4	601	c.491G>T	c.(490-492)AGG>ATG	p.R164M	RNF180_uc003jth.3_Missense_Mutation_p.R164M|RNF180_uc010iws.2_Intron	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN	ring finger protein 180 isoform 1	164	Cytoplasmic (Potential).					integral to membrane|nuclear envelope	zinc ion binding				0		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		AGAAATCACAGGCTTTTAAAC	0.433													T	63509644	G	T	63509644	3	4	74	1	0	0	0	0	1	0	0	0	13464	1000	35	5	501	5	RNF180	5	63509644	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	252562	63509644	117405616	516	50787											
TNPO1	3842	broad.mit.edu	37	chr5	72144271	72144271	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcttcagcaaatcctgcaGctgttgaaggagtcccagtc	12	11	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:72144271G>A	uc003kck.3	+	2	222	c.75G>A	c.(73-75)CAG>CAA	p.Q25Q	TNPO1_uc011csi.1_RNA|TNPO1_uc011csj.1_Silent_p.Q25Q|TNPO1_uc003kch.2_Silent_p.Q17Q|TNPO1_uc003kci.3_Silent_p.Q17Q|TNPO1_uc003kcg.3_Silent_p.Q17Q	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	25					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AAATCCTGCAGCTGTTGAAGG	0.527													A	72144271	G	A	72144271	2	1	74	1	0	0	0	0	0	0	0	1	16332	962	34	2		2	TNPO1	5	72144271	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	8634627	72144271	108770989	517	50788											
HMGCR	3156	broad.mit.edu	37	chr5	74651260	74651260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagttgtgcgtcttccacGtgcttgtgactctgcagaag	11	12	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:74651260G>A	uc003kdp.2	+	14	1949	c.1793G>A	c.(1792-1794)CGT>CAT	p.R598H	HMGCR_uc011cst.1_Missense_Mutation_p.R618H|HMGCR_uc003kdq.2_Missense_Mutation_p.R545H	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	598	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CGTCTTCCACGTGCTTGTGAC	0.527													A	74651260	G	A	74651260	3	1	74	1	0	0	0	0	1	0	0	0	7231	1145	40	1	1843	1	HMGCR	5	74651260	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2506989	74651260	106264000	518	50789											
POLK	51426	broad.mit.edu	37	chr5	74877075	74877075	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaactgagtgagcatgaaCgatccatctctccactactt	6	11	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:74877075C>T	uc003kdw.2	+	7	832	c.736C>T	c.(736-738)CGA>TGA	p.R246*	POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003kea.2_Nonsense_Mutation_p.R246*|POLK_uc003keb.2_Nonsense_Mutation_p.R246*|POLK_uc010izq.2_Nonsense_Mutation_p.R246*|POLK_uc003kec.2_Nonsense_Mutation_p.R156*|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Nonsense_Mutation_p.R156*|POLK_uc003kee.2_Nonsense_Mutation_p.R246*|POLK_uc003kef.2_Nonsense_Mutation_p.R156*	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	246	UmuC.				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TGAGCATGAACGATCCATCTC	0.363								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	74877075	C	T	74877075	4	4	74	1	0	0	0	0	0	1	0	0	12204	528	19	1	758	1	POLK	5	74877075	Nonsense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	225815	74877075	106038185	519	50790											
POLK	51426	broad.mit.edu	37	chr5	74880741	74880741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgggtctaggttcaacaCacctgacgaggtatctatat	9	10	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:74880741C>T	uc003kdw.2	+	9	1312	c.1216C>T	c.(1216-1218)CAC>TAC	p.H406Y	POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003keb.2_Missense_Mutation_p.H406Y|POLK_uc010izq.2_Intron|POLK_uc003kec.2_Missense_Mutation_p.H316Y|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Missense_Mutation_p.H316Y|POLK_uc003kee.2_Missense_Mutation_p.H406Y|POLK_uc003kef.2_Missense_Mutation_p.H316Y	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	406					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AGGTTCAACACACCTGACGAG	0.383								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	74880741	C	T	74880741	3	4	74	1	0	0	0	0	1	0	0	0	12204	478	17	4	1246	4	POLK	5	74880741	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3666	74880741	106034519	520	50791											
ZCCHC9	84240	broad.mit.edu	37	chr5	80608440	80608441	+	Frame_Shift_Ins	INS	-	-	A													tttggatgtacctaaaccgcINSaaaaacccaaaacaaaaata							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:80608440_80608441insA	uc003khj.2	+	6	908_909	c.775_776insA	c.(775-777)CAAfs	p.Q259fs	RNU5E_uc011cto.1_Intron|ZCCHC9_uc003khk.3_Frame_Shift_Ins_p.Q259fs|ZCCHC9_uc003khi.2_Frame_Shift_Ins_p.Q259fs	NM_001131035	NP_001124507	Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	259							nucleic acid binding|zinc ion binding			ovary(1)	1		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		ACCTAAACCGCAAAAACCCAAA	0.386													A	80608441	-	A	80608440	7	5	74	1	0	1	1	0	0	0	0	0	17592	711	25	0	793	0	ZCCHC9	5	80608440	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	5727699	80608440	100306820	521	50792	205	2									
ZCCHC9	84240	broad.mit.edu	37	chr5	80608441	80608442	+	Frame_Shift_Ins	INS	-	-	A													ttggatgtacctaaaccgcaINSaaaacccaaaacaaaaatac							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:80608440_80608441C>CA	uc003khk.4	+	5	1265_1266	c.775_776C>CA	c.(775-777)caafs	p.Q259fs	RNU5E-1_uc011cto.1_Intron|ZCCHC9_uc003khi.3_Frame_Shift_Ins_p.Q259fs|ZCCHC9_uc003khj.3_Frame_Shift_Ins_p.Q259fs	NM_032280	NP_115656	Q8N567	ZCHC9_HUMAN	Homo sapiens zinc finger, CCHC domain containing 9 (ZCCHC9), transcript variant 1, mRNA.	259							nucleic acid binding|zinc ion binding	p.P258L(2)|p.P258P(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		ACCTAAACCGCAAAAACCCAAA	0.386													A	80608442	-	A	80608441	7	5	74	1	0	1	1	0	0	0	0	0	17592	130	5	0	794	0	ZCCHC9	5	80608441	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1	80608441	100306819	522	50793	205	2									
ATP6AP1L	92270	broad.mit.edu	37	chr5	81614036	81614036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgaaagctcgagacacaGccgaagagaaggagctgctg	14	9	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:81614036G>A	uc003khv.2	+	10	1917	c.592G>A	c.(592-594)GCC>ACC	p.A198T	ATP6AP1L_uc003khw.2_Missense_Mutation_p.A198T	NM_001017971	NP_001017971	Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory	198					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						TCGAGACACAGCCGAAGAGAA	0.532													A	81614036	G	A	81614036	3	1	74	1	0	0	0	0	1	0	0	0	1166	971	34	2	606	2	ATP6AP1L	5	81614036	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1005595	81614036	99301224	523	50794											
HAPLN1	1404	broad.mit.edu	37	chr5	82940335	82940335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagccatcactgagccagcCggcattgcaccagtccagcc	10	16	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:82940335C>T	uc003kim.2	-	3	693	c.622G>A	c.(622-624)GGC>AGC	p.G208S	HAPLN1_uc003kin.2_Missense_Mutation_p.G208S	NM_001884	NP_001875	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	208	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			large_intestine(3)|ovary(1)|skin(1)	5		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		CTGAGCCAGCCGGCATTGCAC	0.622													T	82940335	C	T	82940335	3	4	74	1	0	0	0	0	1	0	0	0	6954	652	23	1	450	1	HAPLN1	5	82940335	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1326299	82940335	97974925	524	50795											
GPR98	84059	broad.mit.edu	37	chr5	89968433	89968433	+	Frame_Shift_Del	DEL	T	T	-													agctctggattatgtgcatgTtttttacaccatttcacaga							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:89968432_89968432GT>G	uc003kju.3	+	21	4918	c.4822_4822GT>G	c.(4822-4824)gttfs	p.V1608fs	GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1608					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTATGTGCATGTTTTTTACAC	0.388													-	89968433	T	-	89968433	7	5	74	1	0	1	0	1	0	0	0	0	6721	1725	60	0	4909	0	GPR98	5	89968433	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	7028098	89968433	90946827	525	50796											
ANKRD32	84250	broad.mit.edu	37	chr5	94030769	94030769	+	Frame_Shift_Del	DEL	A	A	-													ttgatttatcttcagagttcAttttagcttccaaagggtta							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:94030768_94030768CA>C	uc003kkr.4	+	20	3008	c.2928_2928CA>C	c.(2926-2928)ttcfs	p.F976fs	ANKRD32_uc003kks.3_Frame_Shift_Del_p.F340fs	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	Homo sapiens ankyrin repeat domain 32 (ANKRD32), mRNA.	976										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CTTCAGAGTTCATTTTAGCTT	0.338													-	94030769	A	-	94030769	7	5	74	1	0	1	0	1	0	0	0	0	660	217	8	0	3007	0	ANKRD32	5	94030769	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	4062336	94030769	86884491	526	50797											
FAM81B	153643	broad.mit.edu	37	chr5	94764401	94764401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattcaagaattcgtgcccGccctggaaactctttccaag	7	14	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:94764401G>A	uc003kla.1	+	6	797	c.751G>A	c.(751-753)GCC>ACC	p.A251T	FAM81B_uc010jbe.1_Missense_Mutation_p.A47T	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	hypothetical protein LOC153643	251										ovary(1)|skin(1)	2		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		ATTCGTGCCCGCCCTGGAAAC	0.403													A	94764401	G	A	94764401	3	1	74	1	0	0	0	0	1	0	0	0	5629	1087	38	1	773	1	FAM81B	5	94764401	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	733632	94764401	86150859	527	50798											
ERAP1	51752	broad.mit.edu	37	chr5	96121526	96121526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcattgttaatgagactcgCccgatcattactgctgactg	9	10	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:96121526C>T	uc003kmm.2	-	13	2256	c.1909G>A	c.(1909-1911)GCG>ACG	p.A637T	ERAP1_uc003kml.2_Missense_Mutation_p.A637T|ERAP1_uc010jbm.1_Missense_Mutation_p.A449T|ERAP1_uc003kmn.2_Missense_Mutation_p.A637T	NM_001040458	NP_001035548	Q9NZ08	ERAP1_HUMAN	type 1 tumor necrosis factor receptor shedding	637	Lumenal (Potential).				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		ATGAGACTCGCCCGATCATTA	0.423													T	96121526	C	T	96121526	3	4	74	1	0	0	0	0	1	0	0	0	5203	739	26	2	977	2	ERAP1	5	96121526	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1357125	96121526	84793734	528	50799											
ERAP1	51752	broad.mit.edu	37	chr5	96139411	96139411	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggttccccagaaggtcagCgtggtaaggtttgcatggat	15	7	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:96139411C>T	uc003kmm.2	-	2	566	c.219G>A	c.(217-219)ACG>ACA	p.T73T	ERAP1_uc003kml.2_Silent_p.T73T|ERAP1_uc010jbm.1_Intron|ERAP1_uc003kmn.2_Silent_p.T73T	NM_001040458	NP_001035548	Q9NZ08	ERAP1_HUMAN	type 1 tumor necrosis factor receptor shedding	73	Lumenal (Potential).				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		AGAAGGTCAGCGTGGTAAGGT	0.488													T	96139411	C	T	96139411	2	4	74	1	0	0	0	0	0	0	0	1	5203	755	27	1		1	ERAP1	5	96139411	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	17885	96139411	84775849	529	50800											
FBXL17	64839	broad.mit.edu	37	chr5	107559928	107559928	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcactgactgatctgtcAcctagggaaaagacatggat	9	9	3	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:107559928A>G	uc011cvc.1	-	5	1915	c.1508T>C	c.(1507-1509)GTG>GCG	p.V503A	FBXL17_uc003kon.3_Missense_Mutation_p.V105A	NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	503											0		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		CTGATCTGTCACCTAGGGAAA	0.303													G	107559928	A	G	107559928	3	3	74	1	0	0	0	0	1	0	0	0	5713	173	6	3	617	3	FBXL17	5	107559928	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	11420517	107559928	73355332	530	50801											
SLC25A46	91137	broad.mit.edu	37	chr5	110097004	110097004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatagcaaacgacttcttcCgcttctttccttgatcttcc	4	14	4	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:110097004C>T	uc003koz.2	+	8	846	c.779C>T	c.(778-780)CCG>CTG	p.P260L	SLC25A46_uc011cvi.1_Missense_Mutation_p.P169L	NM_138773	NP_620128	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	260	Helical; Name=4; (Potential).				transport	integral to membrane|mitochondrial inner membrane					0		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		CGACTTCTTCCGCTTCTTTCC	0.403													T	110097004	C	T	110097004	3	4	74	1	0	0	0	0	1	0	0	0	14511	652	23	1	809	1	SLC25A46	5	110097004	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2537076	110097004	70818256	531	50802											
EPB41L4A	64097	broad.mit.edu	37	chr5	111506045	111506045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattgttcttcggacaatccGgatggatccacaagttcttt	8	9	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:111506045G>A	uc003kpv.1	-	20	1966	c.1692C>T	c.(1690-1692)TCC>TCT	p.S564S	EPB41L4A_uc003kpp.1_Silent_p.S191S|EPB41L4A_uc003kpu.1_5'Flank	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	564				S -> F (in Ref. 2; AAI14943).		cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CGGACAATCCGGATGGATCCA	0.373													A	111506045	G	A	111506045	2	1	74	1	0	0	0	0	0	0	0	1	5155	1103	39	1		1	EPB41L4A	5	111506045	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1409041	111506045	69409215	532	50803											
REEP5	7905	broad.mit.edu	37	chr5	112222807	112222807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcttcaggaagaaaggaCggatgatgcgcttgtagagc	15	7	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:112222807C>T	uc003kqe.1	-	4	569	c.425G>A	c.(424-426)CGT>CAT	p.R142H	SRP19_uc011cvu.1_Intron|SRP19_uc011cvv.1_Intron|REEP5_uc011cvw.1_Missense_Mutation_p.R115H|REEP5_uc011cvx.1_RNA|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_RNA	NM_005669	NP_005660	Q00765	REEP5_HUMAN	receptor accessory protein 5	142						integral to membrane	protein binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		GAAGAAAGGACGGATGATGCG	0.522													T	112222807	C	T	112222807	3	4	74	1	0	0	0	0	1	0	0	0	13208	536	19	1	152	1	REEP5	5	112222807	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	716762	112222807	68692453	533	50804											
PGGT1B	5229	broad.mit.edu	37	chr5	114572215	114572215	+	Frame_Shift_Del	DEL	A	A	-													actgccttcaggtactgcacAaaaactgaaaataataacaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:114572215delA	uc003kqw.3	-	5	505	c.484delT	c.(484-486)TGTfs	p.C162fs	PGGT1B_uc003kqx.3_Frame_Shift_Del_p.C39fs|PGGT1B_uc010jch.2_Frame_Shift_Del_p.C162fs	NM_005023	NP_005014	P53609	PGTB1_HUMAN	geranylgeranyltransferase type 1 beta	162	PFTB 1.				protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity				0		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	GGTACTGCACAAAAACTGAAA	0.368													-	114572215	A	-	114572215	7	5	74	1	0	1	0	1	0	0	0	0	11789	130	5	0	669	0	PGGT1B	5	114572215	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	2349408	114572215	66343045	534	50805											
CDO1	1036	broad.mit.edu	37	chr5	115142176	115142176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggctcacagcaggttccGtatggctgatgttctctact	11	10	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:115142176G>A	uc003krg.2	-	4	754	c.443C>T	c.(442-444)ACG>ATG	p.T148M		NM_001801	NP_001792	Q16878	CDO1_HUMAN	cysteine dioxygenase	148					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity			large_intestine(1)|skin(1)	2		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	AGCAGGTTCCGTATGGCTGAT	0.403													A	115142176	G	A	115142176	3	1	74	1	0	0	0	0	1	0	0	0	3169	1145	40	1	167	1	CDO1	5	115142176	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	569961	115142176	65773084	535	50806											
SEMA6A	57556	broad.mit.edu	37	chr5	115783003	115783003	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgcaggggcaggtccgtgGgaatcacaggggagcccatg	17	12	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:115783003G>T	uc010jck.2	-	19	3108	c.2399C>A	c.(2398-2400)CCC>CAC	p.P800H	SEMA6A_uc003krx.3_Missense_Mutation_p.P817H|SEMA6A_uc011cwe.1_Missense_Mutation_p.P179H|SEMA6A_uc003krv.3_Missense_Mutation_p.P227H|SEMA6A_uc003krw.3_Missense_Mutation_p.P277H|SEMA6A_uc010jcj.2_Missense_Mutation_p.P344H	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	800	Cytoplasmic (Potential).|Pro-rich.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CAGGTCCGTGGGAATCACAGG	0.667													T	115783003	G	T	115783003	3	4	74	1	0	0	0	0	1	0	0	0	14039	1232	43	5	697	5	SEMA6A	5	115783003	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	640827	115783003	65132257	536	50807											
DMXL1	1657	broad.mit.edu	37	chr5	118465026	118465026	+	Frame_Shift_Del	DEL	T	T	-													ttttactttgtccatggaagTttttttacagcaacttagaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:118465025_118465025GT>G	uc010jcl.1	+	9	1403	c.1222_1222GT>G	c.(1222-1224)gttfs	p.V408fs	DMXL1_uc003ksd.2_Frame_Shift_Del_p.V408fs|DMXL1_uc021ycw.1_Frame_Shift_Del_p.V235fs|DMXL1_uc003ksc.1_Frame_Shift_Del_p.V408fs	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	408										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTCCATGGAAGTTTTTTTACA	0.348													-	118465026	T	-	118465026	7	5	74	1	0	1	0	1	0	0	0	0	4594	1725	60	0	1261	0	DMXL1	5	118465026	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	2682023	118465026	62450234	537	50808											
DMXL1	1657	broad.mit.edu	37	chr5	118485628	118485628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgaatctaatcatgaacGccgccttaggtctctcacaa	7	12	4	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:118485628G>A	uc003ksd.2	+	18	4287	c.4106G>A	c.(4105-4107)CGC>CAC	p.R1369H	DMXL1_uc010jcl.1_Missense_Mutation_p.R1369H	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1369										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AATCATGAACGCCGCCTTAGG	0.463													A	118485628	G	A	118485628	3	1	74	1	0	0	0	0	1	0	0	0	4594	1087	38	1	4176	1	DMXL1	5	118485628	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	20602	118485628	62429632	538	50809											
CTXN3	613212	broad.mit.edu	37	chr5	126993261	126993261	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctagtgccccttgggaaCgaatcagcagattctagcat	9	12	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:126993261C>T	uc003kul.3	+	3	622	c.48C>T	c.(46-48)AAC>AAT	p.N16N	CTXN3_uc003kum.3_Silent_p.N16N	NM_001048252	NP_001041717	Q4LDR2	CTXN3_HUMAN	cortexin 3	16						integral to membrane					0		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		CCCTTGGGAACGAATCAGCAG	0.478													T	126993261	C	T	126993261	2	4	74	1	0	0	0	0	0	0	0	1	4050	535	19	1		1	CTXN3	5	126993261	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	8507633	126993261	53921999	539	50810											
FBN2	2201	broad.mit.edu	37	chr5	127622436	127622436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccttctccatcgggccttCgggccattccaggagggcag	13	14	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:127622436C>T	uc003kuu.2	-	55	7425	c.6986G>A	c.(6985-6987)CGA>CAA	p.R2329Q		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2329	EGF-like 39; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATCGGGCCTTCGGGCCATTCC	0.512													T	127622436	C	T	127622436	3	4	74	1	0	0	0	0	1	0	0	0	5703	884	31	1	1796	1	FBN2	5	127622436	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	629175	127622436	53292824	540	50811											
FBN2	2201	broad.mit.edu	37	chr5	127624227	127624227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaccatttccacacggattGccgattgaacactcatcagt	7	12	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:127624227G>A	uc003kuu.2	-	53	7099	c.6660C>T	c.(6658-6660)GGC>GGT	p.G2220G		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2220	EGF-like 37; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACACGGATTGCCGATTGAAC	0.428													A	127624227	G	A	127624227	2	1	74	1	0	0	0	0	0	0	0	1	5703	1306	46	2		2	FBN2	5	127624227	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1791	127624227	53291033	541	50812											
FBN2	2201	broad.mit.edu	37	chr5	127873117	127873117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcctcgcgatactcgggCgctagaaacccgccttcaga	9	17	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:127873117C>T	uc003kuu.2	-	1	619	c.180G>A	c.(178-180)GCG>GCA	p.A60A	FBN2_uc003kuv.2_Silent_p.A60A|FBN2_uc003kuw.3_Silent_p.A60A|FBN2_uc003kux.1_Silent_p.A60A	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	60					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GATACTCGGGCGCTAGAAACC	0.726													T	127873117	C	T	127873117	2	4	74	1	0	0	0	0	0	0	0	1	5703	755	27	1		1	FBN2	5	127873117	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	248890	127873117	53042143	542	50813											
FNIP1	96459	broad.mit.edu	37	chr5	131042192	131042192	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaacttcgggtaagtgAggagtttggggaaggaaatg	17	4	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:131042192A>C	uc003kvs.1	-	9	968	c.826T>G	c.(826-828)TCA>GCA	p.S276A	RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.S248A|FNIP1_uc010jdm.1_Missense_Mutation_p.S231A|FNIP1_uc003kvu.2_Missense_Mutation_p.S276A	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1 isoform 1	276					regulation of protein phosphorylation	cytoplasm	protein binding			pancreas(1)|skin(1)	2		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CGGGTAAGTGAGGAGTTTGGG	0.448													C	131042192	A	C	131042192	3	2	74	1	0	0	0	0	1	0	0	0	5975	304	11	5	2714	5	FNIP1	5	131042192	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	3169075	131042192	49873068	543	50814											
ACSL6	23305	broad.mit.edu	37	chr5	131324516	131324516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtattgatgatgtagcGgatagccccagggcccaggg	14	10	0	2	rs149994861		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:131324516G>A	uc010jdo.1	-	6	642	c.559C>T	c.(559-561)CGC>TGC	p.R187C	ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.R212C|ACSL6_uc003kvy.1_Missense_Mutation_p.R212C|ACSL6_uc003kwb.2_Missense_Mutation_p.R177C|ACSL6_uc003kvz.1_Missense_Mutation_p.R152C|ACSL6_uc003kwa.1_Missense_Mutation_p.R198C|ACSL6_uc010jdn.1_Missense_Mutation_p.R187C|ACSL6_uc010jdp.1_5'Flank	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	187	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGATGTAGCGGATAGCCCCA	0.577													A	131324516	G	A	131324516	3	1	74	1	0	0	0	0	1	0	0	0	181	1116	39	1	1680	1	ACSL6	5	131324516	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	282324	131324516	49590744	544	50815											
SLC22A5	6584	broad.mit.edu	37	chr5	131719977	131719977	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccagatctccaactatgtGgcagcatttgtcctgggtat	11	10	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:131719977G>T	uc003kww.3	+	3	900	c.636G>T	c.(634-636)GTG>GTT	p.V212V	SLC22A5_uc003kwx.3_Silent_p.V236V|SLC22A5_uc010jdr.1_5'Flank	NM_003060	NP_003051	O76082	S22A5_HUMAN	solute carrier family 22 member 5	212	Helical; Name=4; (Potential).				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity				0		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CCAACTATGTGGCAGCATTTG	0.468													T	131719977	G	T	131719977	2	4	74	1	0	0	0	0	0	0	0	1	14457	1335	47	5		5	SLC22A5	5	131719977	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	395461	131719977	49195283	545	50816											
AFF4	27125	broad.mit.edu	37	chr5	132238133	132238133	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattaagcaataaacttaCgatttagactggtgcccatt	6	9	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:132238133C>T	uc003kyd.2	-	7	1541	c.1133_splice	c.e7+1	p.S378_splice	AFF4_uc011cxk.1_Splice_Site_p.S56_splice|AFF4_uc003kye.1_Splice_Site_p.S378_splice	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31						transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATAAACTTACGATTTAGACT	0.274													T	132238133	C	T	132238133	5	4	74	1	0	0	0	0	0	0	1	0	359	550	19	1	2417	1	AFF4	5	132238133	Splice_Site	SNP	C	TCGA-BR-8361-01A-11D-2340-08	518156	132238133	48677127	546	50817											
C5orf24	134553	broad.mit.edu	37	chr5	134190633	134190633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaatccagctttctgtgggCctggcaagccttcctgcctc	10	14	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:134190633C>T	uc003kzx.2	+	2	104	c.43C>T	c.(43-45)CCT>TCT	p.P15S	C5orf24_uc003kzy.3_Missense_Mutation_p.P15S|C5orf24_uc003kzz.2_Missense_Mutation_p.P15S	NM_152409	NP_689622	Q7Z6I8	CE024_HUMAN	hypothetical protein LOC134553	15											0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTCTGTGGGCCTGGCAAGCC	0.418													T	134190633	C	T	134190633	3	4	74	1	0	0	0	0	1	0	0	0	2287	739	26	2	45	2	C5orf24	5	134190633	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1952500	134190633	46724627	547	50818											
H2AFY	9555	broad.mit.edu	37	chr5	134724757	134724759	+	In_Frame_Del	DEL	CTT	CTT	-													gacctggacgtcttggtggaCttcttcttcccaccgcggct							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:134724757_134724759delCTT	uc003lam.1	-	2	235_237	c.25_27delAAG	c.(25-27)AAGdel	p.K9del	H2AFY_uc003lao.1_In_Frame_Del_p.K9del|H2AFY_uc003lan.1_In_Frame_Del_p.K9del|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_In_Frame_Del_p.K9del|H2AFY_uc003las.1_In_Frame_Del_p.K9del|H2AFY_uc003lat.1_In_Frame_Del_p.K9del	NM_138610	NP_613258	O75367	H2AY_HUMAN	H2A histone family, member Y isoform 3	9	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTTGGTGGACTTCTTCTTCCCA	0.616													-	134724759	CTT	-	134724757	7	5	74	1	0	1	0	1	0	0	0	0	6929	564	20	0	1218	0	H2AFY	5	134724757	In_Frame_Del	DEL	CTT	TCGA-BR-8361-01A-11D-2340-08	534124	134724757	46190503	548	50819											
KDM3B	51780	broad.mit.edu	37	chr5	137756625	137756625	+	Frame_Shift_Del	DEL	C	C	-													tggacacaggcataccctttCccccggtcttctctacatcc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:137756624_137756624TC>T	uc003lcy.1	+	14	4145	c.3945_3945TC>T	c.(3943-3945)tttfs	p.F1315fs	KDM3B_uc010jew.1_Frame_Shift_Del_p.F971fs|KDM3B_uc011cys.1_Frame_Shift_Del_p.F347fs	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1315					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCATACCCTTTCCCCCGGTCT	0.507													-	137756625	C	-	137756625	7	5	74	1	0	1	0	1	0	0	0	0	8127	855	30	0	4004	0	KDM3B	5	137756625	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	3031868	137756625	43158635	549	50820											
CTNNA1	1495	broad.mit.edu	37	chr5	138160275	138160275	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcagctagaggaatcctgcaGaagaacgttccgatcctcta	10	11	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:138160275G>T	uc003ldh.2	+	6	740	c.645G>T	c.(643-645)CAG>CAT	p.Q215H	CTNNA1_uc011cyx.1_Missense_Mutation_p.Q112H|CTNNA1_uc011cyy.1_Missense_Mutation_p.Q92H|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Missense_Mutation_p.Q215H	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	215	Involved in homodimerization.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAATCCTGCAGAAGAACGTTC	0.468													T	138160275	G	T	138160275	3	4	74	1	0	0	0	0	1	0	0	0	4012	933	33	5	663	5	CTNNA1	5	138160275	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	403650	138160275	42754985	550	50821											
PCDHA10	56139	broad.mit.edu	37	chr5	140237279	140237279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctgggcagcaacttgaCgctgcaggtgttcgtgctgg	15	11	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:140237279C>T	uc003lhx.2	+	1	1646	c.1646C>T	c.(1645-1647)ACG>ATG	p.T549M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.T549M	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	549	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAACTTGACGCTGCAGGTG	0.692													T	140237279	C	T	140237279	3	4	74	1	0	0	0	0	1	0	0	0	11520	536	19	1	1648	1	PCDHA10	5	140237279	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2077004	140237279	40677981	551	50822											
PCDHA12	56137	broad.mit.edu	37	chr5	140256906	140256906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgcaaccggcggcggtcGgcgcgcacatcccgttccac	13	16	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:140256906G>A	uc003lic.2	+	1	1976	c.1849G>A	c.(1849-1851)GGC>AGC	p.G617S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.G617S	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	617	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGCGGTCGGCGCGCACAT	0.682													A	140256906	G	A	140256906	3	1	74	1	0	0	0	0	1	0	0	0	11522	1116	39	1	1851	1	PCDHA12	5	140256906	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	19627	140256906	40658354	552	50823											
PCDHB3	56132	broad.mit.edu	37	chr5	140481708	140481708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtaacctactcgctgctgcCgccccaggacccgcacctgc	10	19	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:140481708C>T	uc003lio.2	+	1	1475	c.1475C>T	c.(1474-1476)CCG>CTG	p.P492L	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	492	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGCTGCTGCCGCCCCAGGAC	0.652													T	140481708	C	T	140481708	3	4	74	1	0	0	0	0	1	0	0	0	11543	652	23	1	1477	1	PCDHB3	5	140481708	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	224802	140481708	40433552	553	50824											
PCDHB5	26167	broad.mit.edu	37	chr5	140516775	140516775	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agccgggctacctggtgaccAaggtggtggcggtggacggc	19	10	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:140516775A>C	uc003liq.2	+	1	1976	c.1759A>C	c.(1759-1761)AAG>CAG	p.K587Q		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	587	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGTGACCAAGGTGGTGGC	0.687													C	140516775	A	C	140516775	3	2	74	1	0	0	0	0	1	0	0	0	11545	131	5	5	1761	5	PCDHB5	5	140516775	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	35067	140516775	40398485	554	50825											
PCDHB5	26167	broad.mit.edu	37	chr5	140517298	140517298	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccggagactcaggggccgGcgagttcaagttcctgaagc	15	11	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:140517298G>T	uc003liq.2	+	1	2499	c.2282G>T	c.(2281-2283)GGC>GTC	p.G761V		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	761	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGGGGCCGGCGAGTTCAAG	0.567													T	140517298	G	T	140517298	3	4	74	1	0	0	0	0	1	0	0	0	11545	1203	42	5	2284	5	PCDHB5	5	140517298	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	523	140517298	40397962	555	50826											
PCDHB8	56128	broad.mit.edu	37	chr5	140559171	140559171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacctgttcgccctcaggtCgctggactacgaggccctgc	11	17	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:140559171C>T	uc011dai.1	+	1	1742	c.1556C>T	c.(1555-1557)TCG>TTG	p.S519L	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	519	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTCAGGTCGCTGGACTAC	0.687													T	140559171	C	T	140559171	3	4	74	1	0	0	0	0	1	0	0	0	11548	893	31	1	1558	1	PCDHB8	5	140559171	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	41873	140559171	40356089	556	50827											
PCDHB16	57717	broad.mit.edu	37	chr5	140563197	140563197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgtctgcactcaccagcCccatcccagagaactcgcct	6	19	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:140563197C>T	uc003liv.2	+	1	2218	c.1063C>T	c.(1063-1065)CCC>TCC	p.P355S	PCDHB16_uc010jfw.1_Missense_Mutation_p.P27S	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	355	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCACCAGCCCCATCCCAGA	0.527													T	140563197	C	T	140563197	3	4	74	1	0	0	0	0	1	0	0	0	11541	623	22	4	1065	4	PCDHB16	5	140563197	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	4026	140563197	40352063	557	50828											
PCDHB10	56126	broad.mit.edu	37	chr5	140573214	140573214	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagaattctcctgagacGccgctggctgtttttaagat	11	9	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:140573214G>A	uc003lix.2	+	1	1263	c.1089G>A	c.(1087-1089)ACG>ACA	p.T363T		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	363	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCTGAGACGCCGCTGGCTG	0.418													A	140573214	G	A	140573214	2	1	74	1	0	0	0	0	0	0	0	1	11535	1074	38	1		1	PCDHB10	5	140573214	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	10017	140573214	40342046	558	50829											
PCDHB12	56124	broad.mit.edu	37	chr5	140590223	140590223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgccctgggcggccgagCcgggctacctggtgaccaag	17	13	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:140590223C>T	uc003liz.2	+	1	1933	c.1744C>T	c.(1744-1746)CCG>TCG	p.P582S	PCDHB12_uc011dak.1_Missense_Mutation_p.P245S	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	582	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGGCCGAGCCGGGCTACCT	0.692													T	140590223	C	T	140590223	3	4	74	1	0	0	0	0	1	0	0	0	11537	739	26	2	1746	2	PCDHB12	5	140590223	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	17009	140590223	40325037	559	50830											
PCDHB15	56121	broad.mit.edu	37	chr5	140627174	140627174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgccgctcccagaggcGgccccggcccaagcccaggc	12	20	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:140627174G>A	uc003lje.2	+	1	2028	c.2028G>A	c.(2026-2028)GCG>GCA	p.A676A		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	676	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCAGAGGCGGCCCCGGCCC	0.662													A	140627174	G	A	140627174	2	1	74	1	0	0	0	0	0	0	0	1	11540	1103	39	1		1	PCDHB15	5	140627174	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	36951	140627174	40288086	560	50831											
PCDHGA7	56108	broad.mit.edu	37	chr5	140764119	140764119	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacatgtcactgagcctgttCgtgctggaccagaatgacaa	10	10	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:140764119C>T	uc003lka.1	+	1	1653	c.1653C>T	c.(1651-1653)TTC>TTT	p.F551F	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Silent_p.F551F	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	551	Extracellular (Potential).|Cadherin 5.				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)			TGAGCCTGTTCGTGCTGGACC	0.577													T	140764119	C	T	140764119	2	4	74	1	0	0	0	0	0	0	0	1	11559	883	31	1		1	PCDHGA7	5	140764119	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	136945	140764119	40151141	561	50832											
PCDHGA9	56107	broad.mit.edu	37	chr5	140783163	140783163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacctggtcctcacggcctCggatggcggcgagccgcgtc	14	17	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:140783163C>T	uc003lkh.1	+	1	644	c.644C>T	c.(643-645)TCG>TTG	p.S215L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.S215L	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	215	Extracellular (Potential).|Cadherin 2.				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)			CTCACGGCCTCGGATGGCGGC	0.597													T	140783163	C	T	140783163	3	4	74	1	0	0	0	0	1	0	0	0	11561	893	31	1	646	1	PCDHGA9	5	140783163	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	19044	140783163	40132097	562	50833											
PCDHGB6	56100	broad.mit.edu	37	chr5	140789345	140789345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgatcacgagcagctgCgcgccttcgcgctcacgctg	11	16	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:140789345C>T	uc003lkj.1	+	1	1576	c.1576C>T	c.(1576-1578)CGC>TGC	p.R526C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.R526C	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	526	Extracellular (Potential).|Cadherin 5.				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)			CGAGCAGCTGCGCGCCTTCGC	0.687													T	140789345	C	T	140789345	3	4	74	1	0	0	0	0	1	0	0	0	11567	768	27	1	1578	1	PCDHGB6	5	140789345	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	6182	140789345	40125915	563	50834											
PCDHGC5	56097	broad.mit.edu	37	chr5	140885041	140885041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagccatgatcttggcgtcCgccagtggtaagtggtgtca	13	10	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:140885041C>T	uc003lla.1	+	3	2601	c.2601C>T	c.(2599-2601)TCC>TCT	p.S867S	PCDHGA1_uc003lji.1_Silent_p.S854S|PCDHGA2_uc003ljk.1_Silent_p.S855S|PCDHGA3_uc003ljm.1_Silent_p.S855S|PCDHGA3_uc010jfx.1_Silent_p.S615S|PCDHGB1_uc003ljo.1_Silent_p.S850S|PCDHGA4_uc003ljq.1_Silent_p.S854S|PCDHGB2_uc003ljs.1_Silent_p.S854S|PCDHGA5_uc003lju.1_Silent_p.S854S|PCDHGB3_uc003ljw.1_Silent_p.S852S|PCDHGA6_uc003ljy.1_Silent_p.S855S|PCDHGA7_uc003lka.1_Silent_p.S855S|PCDHGB4_uc003lkc.1_Silent_p.S846S|PCDHGA8_uc003lkd.1_Silent_p.S855S|PCDHGB5_uc003lkf.1_Silent_p.S846S|PCDHGA9_uc003lkh.1_Silent_p.S855S|PCDHGB6_uc003lkj.1_Silent_p.S853S|PCDHGA10_uc003lkl.1_Silent_p.S859S|PCDHGB7_uc003lkn.1_Silent_p.S852S|PCDHGA11_uc003lkp.1_Silent_p.S673S|PCDHGA11_uc003lkq.1_Silent_p.S858S|PCDHGA12_uc003lkt.1_Silent_p.S855S|PCDHGC3_uc003lkv.1_Silent_p.S857S|PCDHGC3_uc003lkw.1_Silent_p.S57S|PCDHGC4_uc003lky.1_Silent_p.S861S	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	867	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTGGCGTCCGCCAGTGGTA	0.567													T	140885041	C	T	140885041	2	4	74	1	0	0	0	0	0	0	0	1	11571	639	23	1		1	PCDHGC5	5	140885041	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	95696	140885041	40030219	564	50835											
PCDHGC5	56097	broad.mit.edu	37	chr5	140890548	140890548	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctccaccctgggagggggTgccggcaccatgggattgag	17	11	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:140890548T>C	uc003lla.1	+	4	2643	c.2643T>C	c.(2641-2643)GGT>GGC	p.G881G	PCDHGA1_uc003lji.1_Silent_p.G868G|PCDHGA2_uc003ljk.1_Silent_p.G869G|PCDHGA3_uc003ljm.1_Silent_p.G869G|PCDHGA3_uc010jfx.1_Silent_p.G629G|PCDHGB1_uc003ljo.1_Silent_p.G864G|PCDHGA4_uc003ljq.1_Silent_p.G868G|PCDHGB2_uc003ljs.1_Silent_p.G868G|PCDHGA5_uc003lju.1_Silent_p.G868G|PCDHGB3_uc003ljw.1_Silent_p.G866G|PCDHGA6_uc003ljy.1_Silent_p.G869G|PCDHGA7_uc003lka.1_Silent_p.G869G|PCDHGB4_uc003lkc.1_Silent_p.G860G|PCDHGA8_uc003lkd.1_Silent_p.G869G|PCDHGB5_uc003lkf.1_Silent_p.G860G|PCDHGA9_uc003lkh.1_Silent_p.G869G|PCDHGB6_uc003lkj.1_Silent_p.G867G|PCDHGA10_uc003lkl.1_Silent_p.G873G|PCDHGB7_uc003lkn.1_Silent_p.G866G|PCDHGA11_uc003lkp.1_Silent_p.G687G|PCDHGA11_uc003lkq.1_Silent_p.G872G|PCDHGA12_uc003lkt.1_Silent_p.G869G|PCDHGC3_uc003lkv.1_Silent_p.G871G|PCDHGC3_uc003lkw.1_Silent_p.G71G|PCDHGC4_uc003lky.1_Silent_p.G875G	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	881	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGAGGGGGTGCCGGCACCA	0.587													C	140890548	T	C	140890548	2	2	74	1	0	0	0	0	0	0	0	1	11571	1683	59	3		3	PCDHGC5	5	140890548	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	5507	140890548	40024712	565	50836											
DIAPH1	1729	broad.mit.edu	37	chr5	140908488	140908488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcattgaggcgaggccgCagtcggggcacagtgcccat	16	11	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:140908488C>T	uc003llb.3	-	23	2940	c.2799G>A	c.(2797-2799)CTG>CTA	p.L933L	DIAPH1_uc011dbd.1_5'Flank|DIAPH1_uc003llc.3_Silent_p.L924L|DIAPH1_uc010jgc.1_Silent_p.L369L	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	933	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGGCCGCAGTCGGGGCA	0.493													T	140908488	C	T	140908488	2	4	74	1	0	0	0	0	0	0	0	1	4518	697	25	2		2	DIAPH1	5	140908488	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	17940	140908488	40006772	566	50837											
FCHSD1	89848	broad.mit.edu	37	chr5	141029028	141029028	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcacggtatcggtcagaCgcctggagtcgggtttggcc	16	10	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:141029028C>T	uc003llk.2	-	5	360	c.309G>A	c.(307-309)GCG>GCA	p.A103A	FCHSD1_uc010jgg.2_5'Flank|FCHSD1_uc003llj.2_RNA	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	103									FCHSD1/BRAF(2)	skin(2)|ovary(1)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCGGTCAGACGCCTGGAGTC	0.637													T	141029028	C	T	141029028	2	4	74	1	0	0	0	0	0	0	0	1	5789	523	19	1		1	FCHSD1	5	141029028	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	120540	141029028	39886232	567	50838											
PCDH1	5097	broad.mit.edu	37	chr5	141244531	141244533	+	In_Frame_Del	DEL	CTT	CTT	-													gtggtagtctgcaggaaataCttcttcttgctgtcactgcc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:141244530_141244532ACTT>A	uc003llp.3	-	2	1481_1483	c.1364_1366AAGT>T	c.(1363-1368)aagtat>aTat	p.455_456KY>I	PCDH1_uc011dbf.2_In_Frame_Del_p.433_434KY>I|PCDH1_uc003llq.3_In_Frame_Del_p.455_456KY>I	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	455	Cadherin 4.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGCAGGAAATACTTCTTCTTGCT	0.562													-	141244533	CTT	-	141244531	7	5	74	1	0	1	0	1	0	0	0	0	11506	564	20	0	2444	0	PCDH1	5	141244531	In_Frame_Del	DEL	CTT	TCGA-BR-8361-01A-11D-2340-08	215503	141244531	39670729	568	50839											
PCDH1	5097	broad.mit.edu	37	chr5	141248471	141248471	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacggtctgaagccagcgggAtggggaagagtgagccgatg	18	8	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:141248471A>G	uc003llq.2	-	2	683	c.566T>C	c.(565-567)ATC>ACC	p.I189T	PCDH1_uc003llp.2_Missense_Mutation_p.I189T|PCDH1_uc011dbf.1_Missense_Mutation_p.I167T	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	189	Extracellular (Potential).|Cadherin 2.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		AGCCAGCGGGATGGGGAAGAG	0.567													G	141248471	A	G	141248471	3	3	74	1	0	0	0	0	1	0	0	0	11506	333	12	3	3247	3	PCDH1	5	141248471	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	3940	141248471	39666789	569	50840											
NR3C1	2908	broad.mit.edu	37	chr5	142780298	142780298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagaaaccttcacagtagctCctcctcttagggttttatag	7	11	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:142780298C>A	uc003lmz.2	-	2	599	c.107G>T	c.(106-108)GGA>GTA	p.G36V	NR3C1_uc003lmy.2_Missense_Mutation_p.G36V|NR3C1_uc003lna.2_Missense_Mutation_p.G36V|NR3C1_uc003lnb.2_Missense_Mutation_p.G36V|NR3C1_uc011dbk.1_Intron|NR3C1_uc003lnc.2_Missense_Mutation_p.G36V|NR3C1_uc003lnd.2_Missense_Mutation_p.G36V|NR3C1_uc003lne.2_Missense_Mutation_p.G36V|NR3C1_uc003lnf.2_Missense_Mutation_p.G36V|NR3C1_uc003lng.2_Missense_Mutation_p.G36V|NR3C1_uc003lnh.2_Missense_Mutation_p.G36V|NR3C1_uc003lni.2_Missense_Mutation_p.G36V	NM_000176	NP_000167	P04150	GCR_HUMAN	glucocorticoid receptor isoform alpha	36	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	CACAGTAGCTCCTCCTCTTAG	0.473													A	142780298	C	A	142780298	3	1	74	1	0	0	0	0	1	0	0	0	10630	855	30	5	2313	5	NR3C1	5	142780298	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1531827	142780298	38134962	570	50841											
ADRB2	154	broad.mit.edu	37	chr5	148206713	148206713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttttggcaacttctggtgcGagttttggacttccattgat	10	8	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:148206713G>A	uc003lpr.1	+	1	558	c.319G>A	c.(319-321)GAG>AAG	p.E107K	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	107	Helical; Name=3.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	CTTCTGGTGCGAGTTTTGGAC	0.522													A	148206713	G	A	148206713	3	1	74	1	0	0	0	0	1	0	0	0	341	1059	37	1	321	1	ADRB2	5	148206713	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	5426415	148206713	32708547	571	50842											
PPARGC1B	133522	broad.mit.edu	37	chr5	149216029	149216029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtcccacctgcgacatGccacagcccagccagcctcc	7	21	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:149216029G>A	uc003lrc.2	+	8	2053	c.2011G>A	c.(2011-2013)GCC>ACC	p.A671T	PPARGC1B_uc003lrb.1_Missense_Mutation_p.A671T|PPARGC1B_uc003lrd.2_Missense_Mutation_p.A632T|PPARGC1B_uc003lrf.2_Missense_Mutation_p.A650T|PPARGC1B_uc003lre.1_Missense_Mutation_p.A650T	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	671					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCTGCGACATGCCACAGCCCA	0.637													A	149216029	G	A	149216029	3	1	74	1	0	0	0	0	1	0	0	0	12301	1319	46	2	2048	2	PPARGC1B	5	149216029	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1009316	149216029	31699231	572	50843											
FAT2	2196	broad.mit.edu	37	chr5	150885493	150885493	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttttccatctccagggggAaggggaagcccccatagagg	14	10	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:150885493A>G	uc003lue.3	-	23	12696	c.12683T>C	c.(12682-12684)TTC>TCC	p.F4228S	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.F835S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	4228	Cytoplasmic (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCCAGGGGGAAGGGGAAGCC	0.637													G	150885493	A	G	150885493	3	3	74	1	0	0	0	0	1	0	0	0	5690	246	9	3	370	3	FAT2	5	150885493	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1669464	150885493	30029767	573	50844											
FAT2	2196	broad.mit.edu	37	chr5	150907597	150907597	+	Frame_Shift_Del	DEL	T	T	-													tggccacctgtagctcccccTttttggggtgaatggtgaag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:150907596_150907596CT>C	uc003lue.4	-	14	10138	c.10125_10125AG>G	c.(10123-10125)aagfs	p.K3375fs	FAT2_uc003lud.4_Frame_Shift_Del_p.K68fs	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3375	Cadherin 30.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTAGCTCCCCCTTTTTGGGGT	0.552													-	150907597	T	-	150907597	7	5	74	1	0	1	0	1	0	0	0	0	5690	1609	56	0	2961	0	FAT2	5	150907597	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	22104	150907597	30007663	574	50845											
SPARC	6678	broad.mit.edu	37	chr5	151043687	151043687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggcccactcatccagggCgatgtacttgtcattgtcca	10	14	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:151043687C>T	uc003luh.2	-	8	868	c.844G>A	c.(844-846)GCC>ACC	p.A282T	GM2A_uc011dcs.1_Intron|SPARC_uc003lug.2_Missense_Mutation_p.A116T|SPARC_uc003lui.2_Missense_Mutation_p.A282T	NM_003118	NP_003109	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich	282	|EF-hand.				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(1)	1		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	TCATCCAGGGCGATGTACTTG	0.592													T	151043687	C	T	151043687	3	4	74	1	0	0	0	0	1	0	0	0	14994	768	27	1	75	1	SPARC	5	151043687	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	136090	151043687	29871573	575	50846											
CNOT8	9337	broad.mit.edu	37	chr5	154254953	154254955	+	In_Frame_Del	DEL	AGG	AGG	-													tgaggatgtggactctgcccAggagaagatgagcatcctgg					rs79250798	by1000genomes	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:154254952_154254954CAGG>C	uc003lvu.3	+	7	1311_1313	c.832_834CAGG>C	c.(832-834)cag>C	p.Q278del	CNOT8_uc011ddf.2_In_Frame_Del_p.Q172del|CNOT8_uc011ddg.2_In_Frame_Del_p.Q172del|CNOT8_uc011ddh.2_In_Frame_Del_p.Q114del|CNOT8_uc003lvv.3_In_Frame_Del_p.Q278del|CNOT8_uc010jig.3_In_Frame_Del_p.Q172del|CNOT8_uc010jif.3_In_Frame_Del_p.Q172del|CNOT8_uc003lvw.3_In_Frame_Del_p.Q278del|CNOT8_uc011ddi.2_In_Frame_Del_p.Q172del|CNOT8_uc011ddj.2_In_Frame_Del_p.Q224del	NM_004779	NP_004770	Q9UFF9	CNOT8_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 8 (CNOT8), mRNA.	278					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGACTCTGCCCAGGAGAAGATGA	0.547													-	154254955	AGG	-	154254953	7	5	74	1	0	1	0	1	0	0	0	0	3625	188	7	0	855	0	CNOT8	5	154254953	In_Frame_Del	DEL	AGG	TCGA-BR-8361-01A-11D-2340-08	3211266	154254953	26660307	576	50847											
EBF1	1879	broad.mit.edu	37	chr5	158223392	158223392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaccgaatatgacctgtaaCccatcaaagaaattgtcccc	6	12	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:158223392C>T	uc010jip.2	-	9	1172	c.870G>A	c.(868-870)GGG>GGA	p.G290G	EBF1_uc011ddw.1_Silent_p.G158G|EBF1_uc011ddx.1_Silent_p.G291G|EBF1_uc003lxl.3_Silent_p.G259G	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	290	IPT/TIG.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGACCTGTAACCCATCAAAGA	0.453			T	HMGA2	lipoma								T	158223392	C	T	158223392	2	4	74	1	0	0	0	0	0	0	0	1	4880	494	18	4		4	EBF1	5	158223392	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3968439	158223392	22691868	577	50848											
SLU7	10569	broad.mit.edu	37	chr5	159833494	159833494	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgattgtggatcttcAcatcctcctcatacttagag	8	10	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:159833494A>G	uc003lyg.2	-	12	1423	c.1268T>C	c.(1267-1269)GTG>GCG	p.V423A		NM_006425	NP_006416	O95391	SLU7_HUMAN	step II splicing factor SLU7	423					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			ovary(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGGATCTTCACATCCTCCTC	0.428													G	159833494	A	G	159833494	3	3	74	1	0	0	0	0	1	0	0	0	14755	159	6	3	512	3	SLU7	5	159833494	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1610102	159833494	21081766	578	50849											
ODZ2	57451	broad.mit.edu	37	chr5	167674485	167674485	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgacggtgcaatatgacAgcatgggcagggtgatcaag	16	6	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:167674485A>G	uc010jjd.2	+	27	6514	c.6514A>G	c.(6514-6516)AGC>GGC	p.S2172G	ODZ2_uc003lzr.3_Missense_Mutation_p.S1942G|ODZ2_uc003lzt.3_Missense_Mutation_p.S1545G|ODZ2_uc010jje.2_Missense_Mutation_p.S1436G	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GCAATATGACAGCATGGGCAG	0.547													G	167674485	A	G	167674485	3	3	74	1	0	0	0	0	1	0	0	0	10835	188	7	3	6620	3	ODZ2	5	167674485	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	7840991	167674485	13240775	579	50850											
PANK3	79646	broad.mit.edu	37	chr5	167995867	167995867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtggatccatatgccacGttagaagtcaaatatttccg	9	10	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:167995867G>A	uc003lzz.1	-	2	465	c.165C>T	c.(163-165)AAC>AAT	p.N55N		NM_024594	NP_078870	Q9H999	PANK3_HUMAN	pantothenate kinase 3	55					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		CATATGCCACGTTAGAAGTCA	0.398													A	167995867	G	A	167995867	2	1	74	1	0	0	0	0	0	0	0	1	11418	1136	40	1		1	PANK3	5	167995867	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	321382	167995867	12919393	580	50851											
SLIT3	6586	broad.mit.edu	37	chr5	168093688	168093688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactacttgtcccaggcacGgattctctgcagagggcata	12	11	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:168093688G>A	uc003mab.2	-	36	4763	c.4343C>T	c.(4342-4344)CCG>CTG	p.P1448L	SLIT3_uc010jjg.2_Missense_Mutation_p.P1455L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	1448					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCCAGGCACGGATTCTCTGC	0.562													A	168093688	G	A	168093688	3	1	74	1	0	0	0	0	1	0	0	0	14741	1116	39	1	232	1	SLIT3	5	168093688	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	97821	168093688	12821572	581	50852											
DOCK2	1794	broad.mit.edu	37	chr5	169454916	169454916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacgaggtagaagggggccGaggcgacgagcagtacatgc	17	10	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:169454916G>A	uc003maf.2	+	34	3511	c.3431G>A	c.(3430-3432)CGA>CAA	p.R1144Q	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R636Q	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1144	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAGGGGGCCGAGGCGACGAG	0.517													A	169454916	G	A	169454916	3	1	74	1	0	0	0	0	1	0	0	0	4687	1058	37	1	3565	1	DOCK2	5	169454916	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1361228	169454916	11460344	582	50853											
DOCK2	1794	broad.mit.edu	37	chr5	169454950	169454950	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacatgcagctcctggagtcAatgtaagttcagtgccctgt	10	10	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:169454950A>G	uc003maf.2	+	34	3545	c.3465A>G	c.(3463-3465)TCA>TCG	p.S1155S	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.S647S	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1155	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTGGAGTCAATGTAAGTTC	0.572													G	169454950	A	G	169454950	2	3	74	1	0	0	0	0	0	0	0	1	4687	117	5	3		3	DOCK2	5	169454950	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	34	169454950	11460310	583	50854											
DOCK2	1794	broad.mit.edu	37	chr5	169483739	169483739	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactactcccggcccgtgcgCagggggaccgtagacccaga	13	16	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:169483739C>T	uc003maf.2	+	43	4427	c.4347C>T	c.(4345-4347)CGC>CGT	p.R1449R	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.R941R|DOCK2_uc003mah.2_5'UTR	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1449	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCCCGTGCGCAGGGGGACCG	0.572													T	169483739	C	T	169483739	2	4	74	1	0	0	0	0	0	0	0	1	4687	697	25	2		2	DOCK2	5	169483739	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	28789	169483739	11431521	584	50855											
STK10	6793	broad.mit.edu	37	chr5	171533682	171533682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgatctttagcaggacccGcatggggttgagctcgtggt	16	9	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:171533682G>A	uc003mbo.1	-	6	1030	c.730C>T	c.(730-732)CGG>TGG	p.R244W		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	244	Protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCAGGACCCGCATGGGGTTG	0.652											OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	171533682	G	A	171533682	3	1	74	1	0	0	0	0	1	0	0	0	15285	1086	38	1	2232	1	STK10	5	171533682	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2049943	171533682	9381578	585	50856											
CPLX2	10814	broad.mit.edu	37	chr5	175306962	175306962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatccctgcgggctgcgggGacgaggaggaggaggaagag	20	9	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:175306962G>A	uc003mde.1	+	5	665	c.319G>A	c.(319-321)GAC>AAC	p.D107N	CPLX2_uc003mdf.1_Missense_Mutation_p.D107N	NM_006650	NP_006641	Q6PUV4	CPLX2_HUMAN	complexin 2	107					mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol				ovary(1)	1	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGGCTGCGGGGACGAGGAGGA	0.637													A	175306962	G	A	175306962	3	1	74	1	0	0	0	0	1	0	0	0	3805	1174	41	4	329	4	CPLX2	5	175306962	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	3773280	175306962	5608298	586	50857											
C5orf25	375484	broad.mit.edu	37	chr5	175772305	175772305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagcagattgaggccttcCgcagccgcctgatccagatg	12	12	0	5			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:175772305C>T	uc003mds.3	+	12	2883	c.2476C>T	c.(2476-2478)CGC>TGC	p.R826C	C5orf25_uc003mdt.3_Missense_Mutation_p.R411C|C5orf25_uc003mdr.3_RNA|C5orf25_uc003mdv.2_Missense_Mutation_p.R287C			Q8NDZ2	CE025_HUMAN	RecName: Full=Uncharacterized protein C5orf25;	826											0	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		TGAGGCCTTCCGCAGCCGCCT	0.512													T	175772305	C	T	175772305	3	4	74	1	0	0	0	0	1	0	0	0	2288	652	23	1	1265	1	C5orf25	5	175772305	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	465343	175772305	5142955	587	50858											
CDHR2	54825	broad.mit.edu	37	chr5	176016134	176016134	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatccctttccagggtgtcTtctcgatcttcacctcctcc	5	18	4	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:176016134T>G	uc003mem.1	+	22	3025	c.2959T>G	c.(2959-2961)TTC>GTC	p.F987V	CDHR2_uc003men.1_Missense_Mutation_p.F987V	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	987	Extracellular (Potential).|Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						CCAGGGTGTCTTCTCGATCTT	0.602													G	176016134	T	G	176016134	3	3	74	1	0	0	0	0	1	0	0	0	3119	1609	56	5	3041	5	CDHR2	5	176016134	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	243829	176016134	4899126	588	50859											
UNC5A	90249	broad.mit.edu	37	chr5	176306759	176306759	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctccaagcccagccccacaGccatgatcctcaacctgtgg	7	19	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:176306759G>T	uc003mey.2	+	15	2593	c.2401G>T	c.(2401-2403)GCC>TCC	p.A801S		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	801	Death.|Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCCCCACAGCCATGATCCT	0.692													T	176306759	G	T	176306759	3	4	74	1	0	0	0	0	1	0	0	0	16988	971	34	5	2459	5	UNC5A	5	176306759	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	290625	176306759	4608501	589	50860											
FGFR4	2264	broad.mit.edu	37	chr5	176517963	176517963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactggacacacccccagcGcatggagaagaaactgcatg	10	13	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:176517963G>A	uc003mfl.2	+	5	628	c.461G>A	c.(460-462)CGC>CAC	p.R154H	FGFR4_uc003mfm.2_Missense_Mutation_p.R154H|FGFR4_uc011dfu.1_Missense_Mutation_p.R154H|FGFR4_uc011dfv.1_RNA|FGFR4_uc003mfn.1_3'UTR|FGFR4_uc011dfw.1_Missense_Mutation_p.R154H|FGFR4_uc003mfo.2_Missense_Mutation_p.R154H	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	154	Extracellular (Potential).|Ig-like C2-type 2.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CACCCCCAGCGCATGGAGAAG	0.602										TSP Lung(9;0.080)			A	176517963	G	A	176517963	3	1	74	1	0	0	0	0	1	0	0	0	5868	1087	38	1	475	1	FGFR4	5	176517963	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	211204	176517963	4397297	590	50861											
HNRNPAB	3182	broad.mit.edu	37	chr5	177637254	177637254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctatggctattacggctaCggccccggctacgactacag	10	15	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:177637254C>T	uc003miu.2	+	7	1166	c.909C>T	c.(907-909)TAC>TAT	p.Y303Y	HNRNPAB_uc003miv.2_Intron|HNRNPAB_uc010jks.2_Intron|HNRNPAB_uc003miw.2_Silent_p.Y303Y|HNRNPAB_uc003mix.2_Intron|AGXT2L2_uc003miy.2_Intron|AGXT2L2_uc003mjc.2_Intron|AGXT2L2_uc003miz.2_Intron|AGXT2L2_uc003mja.2_Intron|AGXT2L2_uc003mjb.2_Intron	NM_031266	NP_112556	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B	303	Gly-rich.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0						ATTACGGCTACGGCCCCGGCT	0.627													T	177637254	C	T	177637254	2	4	74	1	0	0	0	0	0	0	0	1	7261	547	19	1		1	HNRNPAB	5	177637254	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1119291	177637254	3278006	591	50862											
ADAMTS2	9509	broad.mit.edu	37	chr5	178771083	178771083	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgtagctgccgacaccacGtgggacaccaagcggccctg	13	15	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:178771083G>A	uc003mjw.2	-	2	219	c.219C>T	c.(217-219)CAC>CAT	p.H73H	ADAMTS2_uc011dgm.1_Silent_p.H73H	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	73					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCGACACCACGTGGGACACCA	0.736													A	178771083	G	A	178771083	2	1	74	1	0	0	0	0	0	0	0	1	265	1136	40	1		1	ADAMTS2	5	178771083	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1133829	178771083	2144177	592	50863											
MGAT1	4245	broad.mit.edu	37	chr5	180218736	180218736	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataccccggtagccagctctCggaacccccgacttaaggtc	9	16	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr5:180218736C>T	uc003mmg.3	-	2	1731	c.1236G>A	c.(1234-1236)CCG>CCA	p.P412P	MGAT1_uc010jlf.2_Silent_p.P412P|MGAT1_uc010jlg.2_Silent_p.P412P|MGAT1_uc003mmh.3_Silent_p.P412P|MGAT1_uc010jlh.2_Silent_p.P412P|MGAT1_uc003mmi.3_Silent_p.P412P	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	412	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(1)	1	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCCAGCTCTCGGAACCCCCG	0.622													T	180218736	C	T	180218736	2	4	74	1	0	0	0	0	0	0	0	1	9542	871	31	1		1	MGAT1	5	180218736	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1447653	180218736	696524	593	50864											
HUS1B	135458	broad.mit.edu	37	chr6	656489	656489	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcggatgctcgcgtcggaGgcgcgcaggctgggcggcag	21	11	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:656489G>T	uc003mtg.2	-	1	476	c.456C>A	c.(454-456)GCC>GCA	p.A152A	EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint protein B	152											0	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		TCGCGTCGGAGGCGCGCAGGC	0.697													T	656489	G	T	656489	2	4	74	1	0	0	0	0	0	0	0	1	7460	987	35	5		5	HUS1B	6	656489	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08		656489	170458578	594	50865											
HUS1B	135458	broad.mit.edu	37	chr6	656933	656933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgccggtgatcttggcGcgaaacttcatgatgccaca	10	12	2	2	rs141227587		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:656933G>A	uc003mtg.2	-	1	32	c.12C>T	c.(10-12)CGC>CGT	p.R4R	EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint protein B	4											0	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		TGATCTTGGCGCGAAACTTCA	0.657													A	656933	G	A	656933	2	1	74	1	0	0	0	0	0	0	0	1	7460	1074	38	1		1	HUS1B	6	656933	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	444	656933	170458134	595	50866											
F13A1	2162	broad.mit.edu	37	chr6	6167765	6167765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atccctggtctcattgatgcGagctgtgacaaagaagtgca	11	9	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:6167765G>A	uc003mwv.2	-	13	1957	c.1834C>T	c.(1834-1836)CGC>TGC	p.R612C	F13A1_uc011dib.1_Missense_Mutation_p.R549C	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	612					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCATTGATGCGAGCTGTGACA	0.517													A	6167765	G	A	6167765	3	1	74	1	0	0	0	0	1	0	0	0	5340	1058	37	1	376	1	F13A1	6	6167765	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	5510832	6167765	164947302	596	50867											
PAK1IP1	55003	broad.mit.edu	37	chr6	10705022	10705022	+	Frame_Shift_Del	DEL	T	T	-													gagatgaagaagttataaggTtttttgactgtgattcacta							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:10705021_10705021GT>G	uc003mzg.3	+	6	715	c.684_684GT>G	c.(682-684)aggfs	p.R228fs		NM_017906	NP_060376	Q9NWT1	PK1IP_HUMAN	Homo sapiens PAK1 interacting protein 1 (PAK1IP1), mRNA.	228					negative regulation of signal transduction	nucleolus|plasma membrane		p.I227V(1)		kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				AAGTTATAAGGTTTTTTGACT	0.373													-	10705022	T	-	10705022	7	5	74	1	0	1	0	1	0	0	0	0	11400	1725	60	0	711	0	PAK1IP1	6	10705022	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	4537257	10705022	160410045	597	50868											
C6orf114	85411	broad.mit.edu	37	chr6	13470413	13470413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcttccccagcacctgcGcgcgatgaacgcatctatct	9	16	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:13470413G>A	uc003nav.2	-	2	623	c.100C>T	c.(100-102)CGC>TGC	p.R34C	GFOD1_uc003nas.1_Intron|GFOD1_uc003nat.1_Intron|C6orf114_uc003nau.2_RNA	NM_033069	NP_149060			hypothetical protein LOC85411												0	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0504)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.147)			CAGCACCTGCGCGCGATGAAC	0.502													A	13470413	G	A	13470413	3	1	74	1	0	0	0	0	1	0	0	0	2321	1087	38	1	314	1	C6orf114	6	13470413	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2765391	13470413	157644654	598	50869											
RBM24	221662	broad.mit.edu	37	chr6	17292146	17292146	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgctgctgccgccgcCgctgctgcctatgaccagta	12	16	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:17292146C>T	uc003nbz.3	+	4	511	c.507C>T	c.(505-507)GCC>GCT	p.A169A	RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Silent_p.A111A|RBM24_uc003nca.2_Silent_p.A124A|RBM24_uc011diy.1_Missense_Mutation_p.P83L|RBM24_uc011diz.1_Missense_Mutation_p.P68L	NM_001143942	NP_001137414	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24 isoform 1	169	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			ovary(1)|skin(1)	2	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			ctgccgccgccgctgctgcCT	0.488													T	17292146	C	T	17292146	2	4	74	1	0	0	0	0	0	0	0	1	13124	639	23	1		1	RBM24	6	17292146	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3821733	17292146	153822921	599	50870											
CDKAL1	54901	broad.mit.edu	37	chr6	21000460	21000460	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccttccatttttttaaggaAatggcaaaaatccttaatca	4	8	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:21000460A>T	uc003ndc.1	+	11	1086	c.912A>T	c.(910-912)GAA>GAT	p.E304D	CDKAL1_uc003ndd.1_Missense_Mutation_p.E304D|CDKAL1_uc003nde.1_Missense_Mutation_p.E234D	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein	304					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			ovary(2)	2	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TTTTTAAGGAAATGGCAAAAA	0.388													T	21000460	A	T	21000460	3	4	74	1	0	0	0	0	1	0	0	0	3152	11	1	5	946	5	CDKAL1	6	21000460	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	3708314	21000460	150114607	600	50871											
CDKAL1	54901	broad.mit.edu	37	chr6	21108632	21108632	+	Splice_Site	DEL	A	A	-													ttttttgttttttttcacagAaaaagcaaaggacaaaagat							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:21108631_21108631GA>G	uc003ndd.2	+	13	1404	c.1237_splice	c.e13-1	p.K413_splice	CDKAL1_uc003nde.2_Intron|CDKAL1_uc021ymk.1_Splice_Site_p.K413_splice|CDKAL1_uc003ndf.2_Splice_Site_p.K9_splice	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	413					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TTTTTTCACAGAAAAAGCAAA	0.284													-	21108632	A	-	21108632	8	5	74	1	0	1	0	1	0	0	1	0	3152	260	9	0	1279	0	CDKAL1	6	21108632	Splice_Site	DEL	A	TCGA-BR-8361-01A-11D-2340-08	108172	21108632	150006435	601	50872											
PRL	5617	broad.mit.edu	37	chr6	22290519	22290519	+	Silent	SNP	G	G	A													accacgtacttccgtgaccaGatgatacagaggctcattcc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:22290519G>A	uc003ndp.2	-	4	895	c.376C>T	c.(376-378)CTG>TTG	p.L126L	PRL_uc003ndo.2_Silent_p.L127L|PRL_uc003ndq.2_Silent_p.L126L	NM_000948	NP_000939	P01236	PRL_HUMAN	prolactin precursor	126					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding				0	Ovarian(93;0.163)					TCCGTGACCAGATGATACAGA	0.453													A	22290519	G	A	22290519	2	1	74	1	0	0	0	0	0	0	0	1	12528	933	33	4		4	PRL	6	22290519	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1181887	22290519	148824548	602	50873	206	2									
PRL	5617	broad.mit.edu	37	chr6	22290529	22290529	+	Silent	SNP	A	A	G													tccgtgaccagatgatacagAggctcattccaggatcgcaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:22290529A>G	uc003ndp.2	-	4	885	c.366T>C	c.(364-366)CCT>CCC	p.P122P	PRL_uc003ndo.2_Silent_p.P123P|PRL_uc003ndq.2_Silent_p.P122P	NM_000948	NP_000939	P01236	PRL_HUMAN	prolactin precursor	122					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding				0	Ovarian(93;0.163)					GATGATACAGAGGCTCATTCC	0.428													G	22290529	A	G	22290529	2	3	74	1	0	0	0	0	0	0	0	1	12528	291	11	3		3	PRL	6	22290529	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	10	22290529	148824538	603	50874	206	2									
DCDC2	51473	broad.mit.edu	37	chr6	24178686	24178686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatttacacgagcagggcGtgcctgctgctcactgtgat	11	12	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:24178686G>A	uc003ndx.2	-	9	1500	c.1198C>T	c.(1198-1200)CGC>TGC	p.R400C	DCDC2_uc003ndy.2_Missense_Mutation_p.R400C|DCDC2_uc003ndw.2_Missense_Mutation_p.R151C	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	400					cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)				CGAGCAGGGCGTGCCTGCTGC	0.517													A	24178686	G	A	24178686	3	1	74	1	0	0	0	0	1	0	0	0	4285	1145	40	1	240	1	DCDC2	6	24178686	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1888157	24178686	146936381	604	50875											
HIST1H2AA	221613	broad.mit.edu	37	chr6	25726703	25726703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaacccgctctagaagagCgagacttagacttggcgcgt	12	11	1	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:25726703C>T	uc003nfc.2	-	1	88	c.53G>A	c.(52-54)CGC>CAC	p.R18H	HIST1H2BA_uc003nfd.2_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	18					nucleosome assembly	nucleosome|nucleus	DNA binding				0						TCTAGAAGAGCGAGACTTAGA	0.547													T	25726703	C	T	25726703	3	4	74	1	0	0	0	0	1	0	0	0	7128	768	27	1	346	1	HIST1H2AA	6	25726703	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1548017	25726703	145388364	605	50876											
HIST1H2BJ	8970	broad.mit.edu	37	chr6	27100268	27100268	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccctggaggtgatggtcgAgcgcttgttgtaatgcgcca	14	10	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:27100268A>C	uc003niv.2	-	1	308	c.262T>G	c.(262-264)TCG>GCG	p.S88A	HIST1H2BJ_uc003niu.1_Intron|HIST1H2AG_uc003niw.2_5'Flank	NM_021058	NP_066402	P06899	H2B1J_HUMAN	histone cluster 1, H2bj	88					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding				0						GTGATGGTCGAGCGCTTGTTG	0.597													C	27100268	A	C	27100268	3	2	74	1	0	0	0	0	1	0	0	0	7149	304	11	5	122	5	HIST1H2BJ	6	27100268	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1373565	27100268	144014799	606	50877											
GABBR1	2550	broad.mit.edu	37	chr6	29571394	29571394	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagggggtcccctgggcaGgcccccagagggttctgggg	18	13	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:29571394G>T	uc003nmt.3	-	23	3148	c.2812C>A	c.(2812-2814)CTG>ATG	p.L938M	GABBR1_uc003nmp.3_Missense_Mutation_p.L821M|GABBR1_uc003nms.3_Missense_Mutation_p.L821M|GABBR1_uc003nmu.3_Missense_Mutation_p.L876M|GABBR1_uc011dlr.1_Missense_Mutation_p.L761M	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	938	Cytoplasmic (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	CCCCTGGGCAGGCCCCCAGAG	0.552													T	29571394	G	T	29571394	3	4	74	1	0	0	0	0	1	0	0	0	6155	991	35	5	77	5	GABBR1	6	29571394	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2471126	29571394	141543673	607	50878											
GABBR1	2550	broad.mit.edu	37	chr6	29577144	29577144	+	Frame_Shift_Del	DEL	G	G	-													tgaccagggtctggtcagctGggggggaccctcctgcatgg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:29577143_29577143TG>T	uc003nmt.4	-	14	2058	c.1722_1722CA>A	c.(1720-1722)ccafs	p.P574fs	GABBR1_uc003nmp.4_Frame_Shift_Del_p.P457fs|GABBR1_uc003nms.4_Frame_Shift_Del_p.P457fs|GABBR1_uc003nmu.4_Frame_Shift_Del_p.P512fs|GABBR1_uc011dlr.2_Frame_Shift_Del_p.P397fs|GABBR1_uc011dls.1_Intron	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	574					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	TCTGGTCAGCTGGGGGGGACC	0.542													-	29577144	G	-	29577144	7	5	74	1	0	1	0	1	0	0	0	0	6155	1348	47	0	1200	0	GABBR1	6	29577144	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	5750	29577144	141537923	608	50879											
TRIM26	7726	broad.mit.edu	37	chr6	30166507	30166507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtgctcccgggactccCggcacatcacgcacagcagc	11	18	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:30166507C>T	uc003npr.2	-	3	583	c.374G>A	c.(373-375)CGG>CAG	p.R125Q	TRIM26_uc003nps.2_Missense_Mutation_p.R125Q|TRIM26_uc010jry.2_5'UTR|TRIM26_uc003npt.2_Missense_Mutation_p.R125Q|TRIM26_uc003npu.1_Missense_Mutation_p.R125Q	NM_003449	NP_003440	Q12899	TRI26_HUMAN	tripartite motif-containing 26	125	B box-type.						DNA binding|zinc ion binding			ovary(2)|lung(1)	3						CCGGGACTCCCGGCACATCAC	0.657													T	30166507	C	T	30166507	3	4	74	1	0	0	0	0	1	0	0	0	16497	652	23	1	1273	1	TRIM26	6	30166507	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	589363	30166507	140948560	609	50880											
TRIM39	56658	broad.mit.edu	37	chr6	30314573	30314573	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaatgcagactcagggtTccagtaaccagtgatggatt	11	7	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:30314573T>C	uc010jsa.1	+	10	1505	c.1498T>C	c.(1498-1500)TCC>CCC	p.S500P	RPP21_uc003nqd.1_Missense_Mutation_p.S174P|RPP21_uc003nqe.1_Missense_Mutation_p.S151P|RPP21_uc003nqf.1_3'UTR	NM_172016	NP_742013	Q9HCM9	TRI39_HUMAN	tripartite motif-containing 39 isoform 2	Error:Variant_position_missing_in_Q9HCM9_after_alignment					apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding			ovary(3)	3						GACTCAGGGTTCCAGTAACCA	0.428													C	30314573	T	C	30314573	3	2	74	1	0	0	0	0	1	0	0	0	16510	1783	62	3		3	TRIM39	6	30314573	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	148066	30314573	140800494	610	50881											
PPP1R10	5514	broad.mit.edu	37	chr6	30570045	30570045	+	Frame_Shift_Del	DEL	C	C	-													cgtggggacgatgtcctccaCccccacccatgctaccacca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:30570045delC	uc003nqn.1	-	19	2933	c.2381delG	c.(2380-2382)GGTfs	p.G794fs	PPP1R10_uc010jsc.1_Frame_Shift_Del_p.G448fs	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	794	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						ATGTCCTCCACCCCCACCCAT	0.667													-	30570045	C	-	30570045	7	5	74	1	0	1	0	1	0	0	0	0	12352	507	18	0	449	0	PPP1R10	6	30570045	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	255472	30570045	140545022	611	50882											
DDR1	780	broad.mit.edu	37	chr6	30864441	30864441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgagaagccaggcgccccGcttctgcccccacctcccca	8	22	1	1	rs139724741	by1000genomes	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:30864441G>A	uc003nrr.2	+	14	1927	c.1668G>A	c.(1666-1668)CCG>CCA	p.P556P	DDR1_uc010jse.2_Silent_p.P519P|DDR1_uc003nrq.2_Silent_p.P519P|DDR1_uc003nrs.2_Silent_p.P556P|DDR1_uc003nrt.2_Silent_p.P519P|DDR1_uc011dms.1_Silent_p.P537P|DDR1_uc003nru.2_Silent_p.P519P|DDR1_uc003nrv.2_Silent_p.P556P|DDR1_uc003nrw.1_Intron|DDR1_uc003nry.1_Intron|DDR1_uc003nrx.1_Intron|DDR1_uc003nrz.1_5'Flank	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	556	Gly/Pro-rich.|Cytoplasmic (Potential).				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	CAGGCGCCCCGCTTCTGCCCC	0.617													A	30864441	G	A	30864441	2	1	74	1	0	0	0	0	0	0	0	1	4336	1074	38	1		1	DDR1	6	30864441	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	294396	30864441	140250626	612	50883											
DDR1	780	broad.mit.edu	37	chr6	30866732	30866732	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgggaggtgctgatgctctGtagggcccagccctttgggc	17	10	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:30866732G>C	uc003nrr.2	+	18	2778	c.2519G>C	c.(2518-2520)TGT>TCT	p.C840S	DDR1_uc010jse.2_Missense_Mutation_p.C803S|DDR1_uc003nrq.2_Missense_Mutation_p.C803S|DDR1_uc003nrs.2_Missense_Mutation_p.C840S|DDR1_uc003nrt.2_Missense_Mutation_p.C803S|DDR1_uc011dms.1_Missense_Mutation_p.C821S|DDR1_uc003nru.2_Missense_Mutation_p.C803S|DDR1_uc003nrv.2_Missense_Mutation_p.C846S|DDR1_uc003nrz.1_Missense_Mutation_p.C165S	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	840	Cytoplasmic (Potential).|Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	CTGATGCTCTGTAGGGCCCAG	0.622													C	30866732	G	C	30866732	3	2	74	1	0	0	0	0	1	0	0	0	4336	1377	48	5	2599	5	DDR1	6	30866732	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2291	30866732	140248335	613	50884											
GTF2H4	2968	broad.mit.edu	37	chr6	30881130	30881130	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgaccagatccggctctgGgagctggaaagggacagact	14	11	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:30881130G>A	uc003nsa.1	+	13	1389	c.1182G>A	c.(1180-1182)TGG>TGA	p.W394*	GTF2H4_uc003nsb.1_Nonsense_Mutation_p.W232*|GTF2H4_uc011dmw.1_3'UTR|VARS2_uc003nsc.1_5'Flank|VARS2_uc003nsd.2_5'Flank|VARS2_uc011dmx.1_5'Flank|VARS2_uc011dmy.1_5'Flank|VARS2_uc011dmz.1_5'Flank|VARS2_uc011dna.1_5'Flank|VARS2_uc011dnb.1_5'Flank|VARS2_uc011dnc.1_5'Flank	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4,	394					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3						TCCGGCTCTGGGAGCTGGAAA	0.582								NER					A	30881130	G	A	30881130	4	1	74	1	0	0	0	0	0	1	0	0	6865	1241	43	4	1228	4	GTF2H4	6	30881130	Nonsense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	14398	30881130	140233937	614	50885											
BAT2	7916	broad.mit.edu	37	chr6	31602641	31602641	+	Frame_Shift_Del	DEL	C	C	-													tcaagggggcagcagagggaCcccccaagaggcctggaggc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:31602641delC	uc003nvb.3	+	21	5296	c.5047delC	c.(5047-5049)CCCfs	p.P1683fs	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Frame_Shift_Del_p.P1683fs	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1683	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						AGCAGAGGGACCCCCCAAGAG	0.627													-	31602641	C	-	31602641	7	5	74	1	0	1	0	1	0	0	0	0	1319	507	18	0	5125	0	BAT2	6	31602641	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	721511	31602641	139512426	615	50886											
NEU1	4758	broad.mit.edu	37	chr6	31829119	31829120	+	Frame_Shift_Ins	INS	-	-	A													gtgagcacaaagggagtagaINSaaagaaatactactcctgtc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:31829118_31829119G>GA	uc003nxq.4	-	2	617_618	c.461_462C>TC	c.(460-462)ttcfs	p.F154fs		NM_000434	NP_000425	Q99519	NEUR1_HUMAN	Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA.	154						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	AAAGGGAGTAGAAAAGAAATAC	0.53													A	31829120	-	A	31829119	7	5	74	1	0	1	1	0	0	0	0	0	10341	246	9	0	802	0	NEU1	6	31829119	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	226478	31829119	139285948	616	50887											
EHMT2	10919	broad.mit.edu	37	chr6	31852462	31852462	+	Frame_Shift_Del	DEL	G	G	-													ctcccgagctgcgatgtgcaGgggggtgtccccatggtagt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:31852462delG	uc003nxz.1	-	20	2573	c.2563delC	c.(2563-2565)CTGfs	p.L855fs	EHMT2_uc003nxv.1_5'UTR|EHMT2_uc003nxw.1_5'UTR|EHMT2_uc003nxx.1_Frame_Shift_Del_p.L53fs|EHMT2_uc003nxy.1_Frame_Shift_Del_p.L653fs|EHMT2_uc011don.1_Frame_Shift_Del_p.L878fs|EHMT2_uc003nya.1_Frame_Shift_Del_p.L821fs	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	855	ANK 7.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						GCGATGTGCAGGGGGGTGTCC	0.657													-	31852462	G	-	31852462	7	5	74	1	0	1	0	1	0	0	0	0	4984	991	35	0	1105	0	EHMT2	6	31852462	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	23343	31852462	139262605	617	50888											
CFB	629	broad.mit.edu	37	chr6	31915553	31915553	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacccctcaagaggtggcCgaagctttcctgtcttccct	9	15	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:31915553C>T	uc003nyj.3	+	5	971	c.693C>T	c.(691-693)GCC>GCT	p.A231A	CFB_uc011dor.1_Silent_p.A733A|CFB_uc003nyi.2_Silent_p.A231A	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	231					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1						AAGAGGTGGCCGAAGCTTTCC	0.552													T	31915553	C	T	31915553	2	4	74	1	0	0	0	0	0	0	0	1	3278	639	23	1		1	CFB	6	31915553	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	63091	31915553	139199514	618	50889											
CFB	629	broad.mit.edu	37	chr6	31918490	31918490	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaattcctgaattttaTgactatgacgttgccctgat	9	8	0	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:31918490T>C	uc003nyj.3	+	13	1997	c.1719T>C	c.(1717-1719)TAT>TAC	p.Y573Y	CFB_uc011dor.1_Silent_p.Y1075Y	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	573	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1						CTGAATTTTATGACTATGACG	0.463													C	31918490	T	C	31918490	2	2	74	1	0	0	0	0	0	0	0	1	3278	1471	51	3		3	CFB	6	31918490	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	2937	31918490	139196577	619	50890											
SKIV2L	6499	broad.mit.edu	37	chr6	31937383	31937383	+	Frame_Shift_Del	DEL	G	G	-													tgagatgtgtcgctcactgcGgggggcagcccgcctggtag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:31937382_31937382CG>C	uc003nyn.1	+	27	4020	c.3631_3631CG>C	c.(3631-3633)cggfs	p.R1211fs	SKIV2L_uc011dou.1_Frame_Shift_Del_p.R1053fs|SKIV2L_uc011dov.1_Frame_Shift_Del_p.R1018fs|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	1211						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TCGCTCACTGCGGGGGGCAGC	0.652													-	31937383	G	-	31937383	7	5	74	1	0	1	0	1	0	0	0	0	14359	1116	39	0	3742	0	SKIV2L	6	31937383	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	18893	31937383	139177684	620	50891											
TNXB	7148	broad.mit.edu	37	chr6	32023712	32023712	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttgtatttgcgcccgggctCcaggccccccacggtgacct	11	17	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:32023712C>A	uc003nzl.2	-	24	8585	c.8383G>T	c.(8383-8385)GAG>TAG	p.E2795*		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2853	Fibronectin type-III 20.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CGCCCGGGCTCCAGGCCCCCC	0.662													A	32023712	C	A	32023712	4	1	74	1	0	0	0	0	0	1	0	0	16343	864	30	5	6414	5	TNXB	6	32023712	Nonsense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	86329	32023712	139091355	621	50892											
PSMB9	5698	broad.mit.edu	37	chr6	32823980	32823980	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgattcccgagtgtctgcAgggtgagtaaaagtgaagat	13	6	2	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:32823980A>G	uc003sga.2	+	3	165	c.90A>G	c.(88-90)GCA>GCG	p.A30A	TAP1_uc003ocg.2_5'Flank|PSMB9_uc011dqj.1_Silent_p.A42A	NM_148954	NP_683756	P28065	PSB9_HUMAN	proteasome beta 9 subunit isoform 2 proprotein	42					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity				0						GAGTGTCTGCAGGGTGAGTAA	0.418													G	32823980	A	G	32823980	2	3	74	1	0	0	0	0	0	0	0	1	12684	175	7	3		3	PSMB9	6	32823980	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	800268	32823980	138291087	622	50893											
WDR46	9277	broad.mit.edu	37	chr6	33255457	33255457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttgttacccaatcaaggGcagccacatgacctcggcgc	9	14	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:33255457G>A	uc003ods.2	-	7	706	c.662C>T	c.(661-663)GCC>GTC	p.A221V	WDR46_uc011dra.1_Missense_Mutation_p.A167V|WDR46_uc010juo.1_RNA|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank	NM_005452	NP_005443	O15213	WDR46_HUMAN	WD repeat domain 46 isoform 1	221	WD 1.										0						CCAATCAAGGGCAGCCACATG	0.587													A	33255457	G	A	33255457	3	1	74	1	0	0	0	0	1	0	0	0	17296	1203	42	2	1206	2	WDR46	6	33255457	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	431477	33255457	137859610	623	50894											
DAXX	1616	broad.mit.edu	37	chr6	33287482	33287482	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcatctatgctggagggggCcaggggttcttctgacagta	15	8	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:33287482C>G	uc003oec.2	-	6	1819	c.1615G>C	c.(1615-1617)GCC>CCC	p.A539P	ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Missense_Mutation_p.A464P|DAXX_uc011dre.1_Missense_Mutation_p.A551P|DAXX_uc003oed.2_Missense_Mutation_p.A539P	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	539	Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						CTGGAGGGGGCCAGGGGTTCT	0.512			Mis|F|N		Pancreatic neuroendocrine tumors								G	33287482	C	G	33287482	3	3	74	1	0	0	0	0	1	0	0	0	4243	739	26	5	619	5	DAXX	6	33287482	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	32025	33287482	137827585	624	50895											
ITPR3	3710	broad.mit.edu	37	chr6	33638469	33638469	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgattccaacctcaacgcGtcccgagatgacaagaagaa	8	11	1	5			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:33638469G>A	uc011drk.1	+	20	2682	c.2463G>A	c.(2461-2463)GCG>GCA	p.A821A		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	821	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						ACCTCAACGCGTCCCGAGATG	0.587													A	33638469	G	A	33638469	2	1	74	1	0	0	0	0	0	0	0	1	7922	1132	40	1		1	ITPR3	6	33638469	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	350987	33638469	137476598	625	50896											
ITPR3	3710	broad.mit.edu	37	chr6	33657159	33657159	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctactatctgggcatcgggcCcacactcaacatcctgggtg	10	14	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:33657159C>A	uc011drk.1	+	50	7058	c.6839C>A	c.(6838-6840)CCC>CAC	p.P2280H	ITPR3_uc003oey.2_Missense_Mutation_p.P367H	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2280	Helical; (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						GGCATCGGGCCCACACTCAAC	0.597													A	33657159	C	A	33657159	3	1	74	1	0	0	0	0	1	0	0	0	7922	623	22	5	7037	5	ITPR3	6	33657159	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	18690	33657159	137457908	626	50897											
SCUBE3	222663	broad.mit.edu	37	chr6	35201059	35201059	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaagtttgtgctccatacCgacgggaagacatgcatcgg	11	10	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:35201059C>T	uc003okf.1	+	6	699	c.693C>T	c.(691-693)ACC>ACT	p.T231T	SCUBE3_uc003okg.1_Silent_p.T230T|SCUBE3_uc003okh.1_Silent_p.T102T	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	231	EGF-like 5.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						TGCTCCATACCGACGGGAAGA	0.602													T	35201059	C	T	35201059	2	4	74	1	0	0	0	0	0	0	0	1	13946	639	23	1		1	SCUBE3	6	35201059	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1543900	35201059	135914008	627	50898											
RPL10A	4736	broad.mit.edu	37	chr6	35438059	35438060	+	Frame_Shift_Del	DEL	CA	CA	-													ggaaagttcccttccctgctCacacacaacgaaaacatggt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:35438058_35438059TCA>T	uc003okp.1	+	4	447_448	c.413_414TCA>T	c.(412-414)ctcfs	p.L138fs	RPL10A_uc003oks.1_Frame_Shift_Del_p.L54fs	NM_007104	NP_009035	P62906	RL10A_HUMAN	Homo sapiens ribosomal protein L10a (RPL10A), mRNA.	138					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						CCTTCCCTGCTCACACACAACG	0.485													-	35438060	CA	-	35438059	7	5	74	1	0	1	0	1	0	0	0	0	13555	813	29	0	432	0	RPL10A	6	35438059	Frame_Shift_Del	DEL	CA	TCGA-BR-8361-01A-11D-2340-08	237000	35438059	135677008	628	50899											
STK38	11329	broad.mit.edu	37	chr6	36465583	36465583	+	Frame_Shift_Del	DEL	A	A	-													tgttcccagtcaacgccttcAaaaaaagagttactttttat							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:36465583delA	uc003omg.2	-	11	1734	c.1146delT	c.(1144-1146)TTTfs	p.F382fs	STK38_uc003omh.2_Frame_Shift_Del_p.F382fs|STK38_uc003omi.2_Frame_Shift_Del_p.F382fs	NM_007271	NP_009202	Q15208	STK38_HUMAN	serine/threonine kinase 38	382	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						CAACGCCTTCAAAAAAAGAGT	0.368													-	36465583	A	-	36465583	7	5	74	1	0	1	0	1	0	0	0	0	15302	127	5	0	263	0	STK38	6	36465583	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	1027524	36465583	134649484	629	50900											
CPNE5	57699	broad.mit.edu	37	chr6	36712850	36712850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatggcctccttggtctgcGccatgtccgagatgacccca	10	15	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:36712850G>A	uc003omr.1	-	18	1473	c.1406C>T	c.(1405-1407)GCG>GTG	p.A469V	CPNE5_uc003omp.1_Missense_Mutation_p.A177V|CPNE5_uc010jwn.1_Missense_Mutation_p.A119V|CPNE5_uc003omq.1_Missense_Mutation_p.A119V	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	copine V	469	VWFA.									skin(1)	1						CTTGGTCTGCGCCATGTCCGA	0.612													A	36712850	G	A	36712850	3	1	74	1	0	0	0	0	1	0	0	0	3815	1087	38	1	391	1	CPNE5	6	36712850	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	247267	36712850	134402217	630	50901											
FTSJD2	23070	broad.mit.edu	37	chr6	37443948	37443948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagccgtttccaagcctagtCggcccgacatgaatcccatc	8	15	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:37443948C>T	uc003ons.2	+	20	2336	c.2083C>T	c.(2083-2085)CGG>TGG	p.R695W		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	FtsJ methyltransferase domain containing 2	695					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						CAAGCCTAGTCGGCCCGACAT	0.552													T	37443948	C	T	37443948	3	4	74	1	0	0	0	0	1	0	0	0	6091	875	31	1	2157	1	FTSJD2	6	37443948	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	731098	37443948	133671119	631	50902											
KCNK17	89822	broad.mit.edu	37	chr6	39272337	39272337	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatgagatgccccagtcgGttgagcaccacgaggttgag	14	10	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:39272337G>A	uc003ooo.2	-	3	587	c.447C>T	c.(445-447)AAC>AAT	p.N149N	KCNK17_uc003oop.2_Silent_p.N149N	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	149	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(2)	2						GCCCCAGTCGGTTGAGCACCA	0.642													A	39272337	G	A	39272337	2	1	74	1	0	0	0	0	0	0	0	1	8064	1252	44	4		4	KCNK17	6	39272337	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1828389	39272337	131842730	632	50903											
KCNK16	83795	broad.mit.edu	37	chr6	39285600	39285600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcccatctttcaatggCggccagatgggcacgcagcc	11	15	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:39285600C>T	uc003ooq.2	-	3	471	c.457G>A	c.(457-459)GCC>ACC	p.A153T	KCNK16_uc003oor.3_Missense_Mutation_p.A153T|KCNK16_uc010jwy.2_Missense_Mutation_p.A153T|KCNK16_uc011dtz.1_Missense_Mutation_p.A153T	NM_032115	NP_115491	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	153	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.A153T(1)		ovary(2)|skin(1)	3						CTTTCAATGGCGGCCAGATGG	0.552													T	39285600	C	T	39285600	3	4	74	1	0	0	0	0	1	0	0	0	8063	768	27	1	873	1	KCNK16	6	39285600	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	13263	39285600	131829467	633	50904											
PPP2R5D	5528	broad.mit.edu	37	chr6	42979003	42979003	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggcggaagagttcctaacTgccagccaggaggctctctg	14	12	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:42979003T>C	uc003oth.2	+	16	1874	c.1788T>C	c.(1786-1788)ACT>ACC	p.T596T	MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Silent_p.T564T|PPP2R5D_uc010jyd.2_Silent_p.T490T|PPP2R5D_uc011dva.1_Silent_p.T445T|PPP2R5D_uc003oti.2_Silent_p.T445T|PPP2R5D_uc003otj.2_Silent_p.T427T|KLHDC3_uc003otl.2_5'Flank|KLHDC3_uc003otm.2_5'Flank|KLHDC3_uc010jyf.2_5'Flank|KLHDC3_uc003otn.2_5'Flank	NM_006245	NP_006236	Q14738	2A5D_HUMAN	delta isoform of regulatory subunit B56, protein	596					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(1)|central_nervous_system(1)	2			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGTTCCTAACTGCCAGCCAGG	0.627													C	42979003	T	C	42979003	2	2	74	1	0	0	0	0	0	0	0	1	12395	1567	55	3		3	PPP2R5D	6	42979003	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	3693403	42979003	128136064	634	50905											
CUL7	9820	broad.mit.edu	37	chr6	43008323	43008323	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcctgatccagctgctggAgctggtagacgtggaactgg	15	9	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:43008323A>C	uc003otq.2	-	21	4271	c.3968T>G	c.(3967-3969)CTC>CGC	p.L1323R	CUL7_uc010jyg.2_Missense_Mutation_p.L602R|CUL7_uc011dvb.1_Missense_Mutation_p.L1407R|CUL7_uc010jyh.2_Missense_Mutation_p.L316R|KLC4_uc003otr.1_5'Flank	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	1323					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CAGCTGCTGGAGCTGGTAGAC	0.562													C	43008323	A	C	43008323	3	2	74	1	0	0	0	0	1	0	0	0	4060	304	11	5	1152	5	CUL7	6	43008323	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	29320	43008323	128106744	635	50906											
CUL7	9820	broad.mit.edu	37	chr6	43010695	43010695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcacaaagtcatcatcccGccaggatgaggtcagaaaat	10	10	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:43010695G>A	uc003otq.2	-	19	3793	c.3490C>T	c.(3490-3492)CGG>TGG	p.R1164W	CUL7_uc010jyg.2_Missense_Mutation_p.R443W|CUL7_uc011dvb.1_Missense_Mutation_p.R1248W|CUL7_uc010jyh.2_Missense_Mutation_p.R157W|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	1164					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCATCATCCCGCCAGGATGAG	0.532													A	43010695	G	A	43010695	3	1	74	1	0	0	0	0	1	0	0	0	4060	1086	38	1	1638	1	CUL7	6	43010695	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2372	43010695	128104372	636	50907											
POLH	5429	broad.mit.edu	37	chr6	43573039	43573039	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaactagaggagagactgActaaagaccgaaatgatgta	12	5	0	5			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:43573039A>G	uc003ovq.3	+	9	1361	c.1057A>G	c.(1057-1059)ACT>GCT	p.T353A	POLH_uc010jyu.2_Missense_Mutation_p.T229A|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_Missense_Mutation_p.T254A	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	DNA-directed DNA polymerase eta	353					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(2)	2	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GGAGAGACTGACTAAAGACCG	0.378								DNA_polymerases_(catalytic_subunits)	Xeroderma_Pigmentosum				G	43573039	A	G	43573039	3	3	74	1	0	0	0	0	1	0	0	0	12202	275	10	3	1087	3	POLH	6	43573039	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	562344	43573039	127542028	637	50908											
HSP90AB1	3326	broad.mit.edu	37	chr6	44219919	44219921	+	In_Frame_Del	DEL	AGA	AGA	-													gctgcctgaggatgaggaggAgaagaagaagatggaagaga					rs146175316		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:44219918_44219920GAGA>G	uc003oxa.1	+	9	1729_1731	c.1645_1647GAGA>G	c.(1645-1647)gag>G	p.E549del	HSP90AB1_uc011dvr.1_In_Frame_Del_p.E539del|HSP90AB1_uc003oxb.1_In_Frame_Del_p.E549del|HSP90AB1_uc011dvs.1_In_Frame_Del_p.E369del|HSP90AB1_uc003oxc.1_In_Frame_Del_p.E187del	NM_007355	NP_031381	P08238	HS90B_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA.	549					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|TPR domain binding|nitric-oxide synthase regulator activity|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGATGAGGAGGAGAAGAAGAAGA	0.488													-	44219921	AGA	-	44219919	7	5	74	1	0	1	0	1	0	0	0	0	7402	304	11	0	1680	0	HSP90AB1	6	44219919	In_Frame_Del	DEL	AGA	TCGA-BR-8361-01A-11D-2340-08	646880	44219919	126895148	638	50909											
AARS2	57505	broad.mit.edu	37	chr6	44275065	44275065	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcagccaccacgcggtAcgctgtgtctgtgcgcccct	13	15	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:44275065A>G	uc010jza.1	-	6	964	c.961T>C	c.(961-963)TAC>CAC	p.Y321H	SPATS1_uc003oxg.2_RNA|TMEM151B_uc003oxf.2_3'UTR	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	321					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	ACCACGCGGTACGCTGTGTCT	0.637													G	44275065	A	G	44275065	3	3	74	1	0	0	0	0	1	0	0	0	20	391	14	3	2064	3	AARS2	6	44275065	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	55146	44275065	126840002	639	50910											
GPR116	221395	broad.mit.edu	37	chr6	46849830	46849830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagcctggtaaaattccGtaacccttccggaactgaaa	8	10	0	2	rs140241968	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:46849830G>A	uc003oyo.3	-	7	916	c.627C>T	c.(625-627)TAC>TAT	p.Y209Y	GPR116_uc003oyp.3_Silent_p.Y209Y|GPR116_uc003oyq.3_Silent_p.Y209Y|GPR116_uc010jzi.1_5'Flank|GPR116_uc003oyr.2_Silent_p.Y209Y	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	209	SEA.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			GTAAAATTCCGTAACCCTTCC	0.368													A	46849830	G	A	46849830	2	1	74	1	0	0	0	0	0	0	0	1	6633	1140	40	1		1	GPR116	6	46849830	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2574765	46849830	124265237	640	50911											
CRISP1	167	broad.mit.edu	37	chr6	49825088	49825088	+	Frame_Shift_Del	DEL	A	A	-													gtaagcaagcagcagcaaccAaaaacaagaggtgtttaatt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:49825088delA	uc003ozw.2	-	2	105	c.26delT	c.(25-27)TTGfs	p.L9fs	CRISP1_uc003ozx.2_Frame_Shift_Del_p.L9fs	NM_001131	NP_001122	P54107	CRIS1_HUMAN	acidic epididymal glycoprotein-like 1 isoform 1	9					fusion of sperm to egg plasma membrane	extracellular space					0	Lung NSC(77;0.0358)					AGCAGCAACCAAAAACAAGAG	0.294													-	49825088	A	-	49825088	7	5	74	1	0	1	0	1	0	0	0	0	3879	131	5	0	751	0	CRISP1	6	49825088	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	2975258	49825088	121289979	641	50912											
TFAP2D	83741	broad.mit.edu	37	chr6	50696967	50696967	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttggataggcttggcttaaaCttaccagcaggaagacggaa	12	7	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:50696967C>G	uc003paf.2	+	5	1337	c.825C>G	c.(823-825)AAC>AAG	p.N275K	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	275							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)					TTGGCTTAAACTTACCAGCAG	0.418													G	50696967	C	G	50696967	3	3	74	1	0	0	0	0	1	0	0	0	15787	564	20	5	843	5	TFAP2D	6	50696967	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	871879	50696967	120418100	642	50913											
TFAP2B	7021	broad.mit.edu	37	chr6	50811032	50811032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgttcttgaacaacaccaCcactaacaggcacacgtctg	7	13	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:50811032C>T	uc003pag.2	+	7	1476	c.1310C>T	c.(1309-1311)ACC>ATC	p.T437I		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	437				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					AACAACACCACCACTAACAGG	0.512													T	50811032	C	T	50811032	3	4	74	1	0	0	0	0	1	0	0	0	15785	507	18	4	1336	4	TFAP2B	6	50811032	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	114065	50811032	120304035	643	50914											
PAQR8	85315	broad.mit.edu	37	chr6	52268987	52268987	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccacatggcctgcctcTccttcttcttcctggctgcc	7	18	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:52268987T>G	uc003pao.3	+	2	1150	c.976T>G	c.(976-978)TCC>GCC	p.S326A		NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member	326	Helical; Name=7; (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding				0	Lung NSC(77;0.0875)					GGCCTGCCTCTCCTTCTTCTT	0.602													G	52268987	T	G	52268987	3	3	74	1	0	0	0	0	1	0	0	0	11441	1551	54	5	978	5	PAQR8	6	52268987	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	1457955	52268987	118846080	644	50915											
DST	667	broad.mit.edu	37	chr6	56716337	56716339	+	In_Frame_Del	DEL	ATC	ATC	-													gagccagatttctggctgaaAtcatcctcatcggaaaaatc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:56716336_56716338AATC>A	uc021zay.1	-	1	194_196	c.68_70GATT>T	c.(67-72)gatttc>gTtc	p.23_24DF>V	DST_uc011dxl.1_In_Frame_Del_p.12_13DF>V|DST_uc021zba.1_In_Frame_Del_p.161_162DF>V	NM_001723	NP_001714	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1e, mRNA.	0					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	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCTGGCTGAAATCATCCTCATC	0.488											OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	56716339	ATC	-	56716337	7	5	74	1	0	1	0	1	0	0	0	0	4783	116	4	0		0	DST	6	56716337	In_Frame_Del	DEL	ATC	TCGA-BR-8361-01A-11D-2340-08	4447350	56716337	114398730	645	50916											
ZNF451	26036	broad.mit.edu	37	chr6	57015648	57015649	+	Frame_Shift_Ins	INS	-	-	G													aaaccaaggaacatttatttINSggggctttcaaggtacggtt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:57015648_57015649insG	uc003pdm.1	+	11	2964_2965	c.2740_2741insG	c.(2740-2742)TGGfs	p.W914fs	ZNF451_uc003pdl.2_Frame_Shift_Ins_p.W914fs|ZNF451_uc003pdn.1_Intron|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Frame_Shift_Ins_p.W914fs	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	914					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AACATTTATTTGGGGCTTTCAA	0.361													G	57015649	-	G	57015648	7	5	74	1	0	1	1	0	0	0	0	0	17919	1812	63	0	2782	0	ZNF451	6	57015648	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	299311	57015648	114099419	646	50917	207	2									
ZNF451	26036	broad.mit.edu	37	chr6	57015649	57015650	+	Frame_Shift_Ins	INS	-	-	G													aaccaaggaacatttatttgINSgggctttcaaggtacggtta							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:57015648_57015649T>TG	uc003pdm.1	+	10	2964_2965	c.2740_2741T>TG	c.(2740-2742)tggfs	p.W914fs	ZNF451_uc003pdl.3_Frame_Shift_Ins_p.W914fs|ZNF451_uc003pdn.1_Intron|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Frame_Shift_Ins_p.W914fs	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	914					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AACATTTATTTGGGGCTTTCAA	0.361													G	57015650	-	G	57015649	7	5	74	1	0	1	1	0	0	0	0	0	17919	1357	47	0	2783	0	ZNF451	6	57015649	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1	57015649	114099418	647	50918	207	2									
EYS	346007	broad.mit.edu	37	chr6	66205228	66205228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattcttccaccaattgccGtctacatgtttttccattta	3	13	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:66205228G>A	uc011dxu.1	-	4	614	c.76C>T	c.(76-78)CGG>TGG	p.R26W	EYS_uc003peq.2_Missense_Mutation_p.R26W|EYS_uc003per.1_Missense_Mutation_p.R26W|EYS_uc010kaj.1_RNA	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	26					response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						ACCAATTGCCGTCTACATGTT	0.398													A	66205228	G	A	66205228	3	1	74	1	0	0	0	0	1	0	0	0	5332	1144	40	1	9480	1	EYS	6	66205228	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	9189579	66205228	104909839	648	50919											
SMAP1	60682	broad.mit.edu	37	chr6	71566593	71566593	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccagcagctgcaacccTgtctacagtaacatctgggg	10	13	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:71566593T>G	uc003pfr.2	+	9	1069	c.821T>G	c.(820-822)CTG>CGG	p.L274R	SMAP1_uc003pfs.2_Missense_Mutation_p.L247R|SMAP1_uc010kao.2_Missense_Mutation_p.L247R|SMAP1_uc010kap.2_Missense_Mutation_p.L264R	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN	stromal membrane-associated GTPase-activating	274					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding				0						GCTGCAACCCTGTCTACAGTA	0.403													G	71566593	T	G	71566593	3	3	74	1	0	0	0	0	1	0	0	0	14766	1580	55	5	855	5	SMAP1	6	71566593	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	5361365	71566593	99548474	649	50920											
MTO1	25821	broad.mit.edu	37	chr6	74190493	74190493	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttctttgctggacagatcAatggcaccactggttatgag	10	9	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:74190493A>G	uc003pgy.3	+	8	1424	c.1300A>G	c.(1300-1302)AAT>GAT	p.N434D	MTO1_uc010kav.2_Missense_Mutation_p.N409D|MTO1_uc003pgz.3_Missense_Mutation_p.N409D|MTO1_uc003pha.3_Missense_Mutation_p.N71D|MTO1_uc003phb.3_Missense_Mutation_p.N360D|MTO1_uc010kaw.1_RNA	NM_133645	NP_598400	Q9Y2Z2	MTO1_HUMAN	mitochondrial translation optimization 1 homolog	434					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			ovary(3)|skin(2)|pancreas(1)	6						TGGACAGATCAATGGCACCAC	0.418													G	74190493	A	G	74190493	3	3	74	1	0	0	0	0	1	0	0	0	9953	130	5	3	1330	3	MTO1	6	74190493	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	2623900	74190493	96924574	650	50921											
COL12A1	1303	broad.mit.edu	37	chr6	75875409	75875409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatgagaccctgtaaccgcGaaccattcctggagcagatg	10	13	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:75875409G>A	uc003phs.2	-	14	2963	c.2797C>T	c.(2797-2799)CGC>TGC	p.R933C	COL12A1_uc003pht.2_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	933	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CTGTAACCGCGAACCATTCCT	0.403													A	75875409	G	A	75875409	3	1	74	1	0	0	0	0	1	0	0	0	3669	1058	37	1	6606	1	COL12A1	6	75875409	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1684916	75875409	95239658	651	50922											
LCA5	167691	broad.mit.edu	37	chr6	80197138	80197138	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctgatgtttttgcaaaCgaaggcacgtagctaccaaa	8	10	1	1	rs144098531		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:80197138C>T	uc003pix.2	-	8	2112	c.1677G>A	c.(1675-1677)TCG>TCA	p.S559S	LCA5_uc003piy.2_Silent_p.S559S	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	559					protein transport	cilium axoneme|microtubule basal body	protein binding				0		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTTTTGCAAACGAAGGCACGT	0.383													T	80197138	C	T	80197138	2	4	74	1	0	0	0	0	0	0	0	1	8656	523	19	1		1	LCA5	6	80197138	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	4321729	80197138	90917929	652	50923											
ELOVL4	6785	broad.mit.edu	37	chr6	80656932	80656932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcggtagaactctaccGtgtcgttgagtgccgtggac	13	11	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:80656932G>A	uc003pja.3	-	1	384	c.65C>T	c.(64-66)ACG>ATG	p.T22M	ELOVL4_uc011dyt.1_RNA	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	elongation of very long chain fatty acids-like	22					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			ovary(1)|skin(1)	2		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	GAACTCTACCGTGTCGTTGAG	0.667													A	80656932	G	A	80656932	3	1	74	1	0	0	0	0	1	0	0	0	5076	1145	40	1	903	1	ELOVL4	6	80656932	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	459794	80656932	90458135	653	50924											
DOPEY1	23033	broad.mit.edu	37	chr6	83877689	83877689	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagctcctgccgttcttcAatgtgctcagtcaagtcttc	8	13	5	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:83877689A>G	uc003pjs.1	+	39	7461	c.7201A>G	c.(7201-7203)AAT>GAT	p.N2401D	DOPEY1_uc011dyy.1_Missense_Mutation_p.N2412D|DOPEY1_uc010kbl.1_Missense_Mutation_p.N2392D|DOPEY1_uc003pjt.2_RNA|uc003pju.1_5'Flank	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	2401					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCCGTTCTTCAATGTGCTCAG	0.522													G	83877689	A	G	83877689	3	3	74	1	0	0	0	0	1	0	0	0	4707	130	5	3	7347	3	DOPEY1	6	83877689	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	3220757	83877689	87237378	654	50925											
PRSS35	167681	broad.mit.edu	37	chr6	84233970	84233970	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgaggaggcatgggggaCgctaccttggactatgacta	15	9	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:84233970C>T	uc003pjz.2	+	2	973	c.810C>T	c.(808-810)GAC>GAT	p.D270D	PRSS35_uc010kbm.2_Silent_p.D270D	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35 precursor	270	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GCATGGGGGACGCTACCTTGG	0.542													T	84233970	C	T	84233970	2	4	74	1	0	0	0	0	0	0	0	1	12624	535	19	1		1	PRSS35	6	84233970	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	356281	84233970	86881097	655	50926											
SPACA1	81833	broad.mit.edu	37	chr6	88769196	88769196	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cattatacttgtaaatgattCagcaatcctagaagtacgca	6	8	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:88769196C>T	uc003pmn.2	+	5	617	c.500C>T	c.(499-501)TCA>TTA	p.S167L		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1 precursor	167	Extracellular (Potential).					integral to membrane					0		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		GTAAATGATTCAGCAATCCTA	0.318													T	88769196	C	T	88769196	3	4	74	1	0	0	0	0	1	0	0	0	14972	838	29	4	518	4	SPACA1	6	88769196	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	4535226	88769196	82345871	656	50927											
MDN1	23195	broad.mit.edu	37	chr6	90383871	90383871	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtctaattttgtcgacgTcagctttcactgttttaatg	8	8	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:90383871T>C	uc003pnn.1	-	79	13315	c.13199A>G	c.(13198-13200)GAC>GGC	p.D4400G		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4400					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTGTCGACGTCAGCTTTCAC	0.433													C	90383871	T	C	90383871	3	2	74	1	0	0	0	0	1	0	0	0	9415	1667	58	3	3687	3	MDN1	6	90383871	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	1614675	90383871	80731196	657	50928											
GRIK2	2898	broad.mit.edu	37	chr6	102074496	102074496	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggaaaaccgtcacggttgtGtatgatgacagcactggtaa	12	7	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:102074496G>C	uc003pqp.3	+	3	774	c.525G>C	c.(523-525)GTG>GTC	p.V175V	GRIK2_uc003pqn.2_Silent_p.V175V|GRIK2_uc003pqo.3_Silent_p.V175V|GRIK2_uc010kcw.2_Silent_p.V175V	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	175	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TCACGGTTGTGTATGATGACA	0.393													C	102074496	G	C	102074496	2	2	74	1	0	0	0	0	0	0	0	1	6774	1364	48	5		5	GRIK2	6	102074496	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	11690625	102074496	69040571	658	50929											
QRSL1	55278	broad.mit.edu	37	chr6	107088273	107088273	+	Frame_Shift_Del	DEL	A	A	-													tacaccaacagagctctgtcAaaaatgtctctctcttatca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:107088272_107088272CA>C	uc003prm.3	+	1	189	c.73_73CA>C	c.(73-75)caafs	p.Q25fs	QRSL1_uc003prl.2_Frame_Shift_Del_p.Q25fs	NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	Homo sapiens glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 (QRSL1), mRNA.	25					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		AGAGCTCTGTCAAAAATGTCT	0.383													-	107088273	A	-	107088273	7	5	74	1	0	1	0	1	0	0	0	0	12881	130	5	0	80	0	QRSL1	6	107088273	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	5013777	107088273	64026794	659	50930											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111880693	111880693	+	Frame_Shift_Del	DEL	T	T	-													tcagcagccgcagcaggatgTtttttttattcttgggccag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:111880692_111880692GT>G	uc011ebc.2	-	9	2229	c.1614_1614AC>C	c.(1612-1614)aacfs	p.N538fs	TRAF3IP2-AS1_uc021zdu.1_Intron|TRAF3IP2-AS1_uc021zdv.1_Intron|TRAF3IP2_uc011ebb.2_Frame_Shift_Del_p.N82fs|TRAF3IP2_uc003pvd.3_Frame_Shift_Del_p.N130fs|TRAF3IP2_uc003pvg.3_Frame_Shift_Del_p.N537fs|TRAF3IP2_uc003pvf.3_Frame_Shift_Del_p.N538fs	NM_147686	NP_679211	O43734	CIKS_HUMAN	Homo sapiens TRAF3 interacting protein 2 (TRAF3IP2), transcript variant 2, mRNA.	547	SEFIR.				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GCAGCAGGATGTTTTTTTTAT	0.547													-	111880693	T	-	111880693	7	5	74	1	0	1	0	1	0	0	0	0	16438	1725	60	0	88	0	TRAF3IP2	6	111880693	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	4792420	111880693	59234374	660	50931											
TUBE1	51175	broad.mit.edu	37	chr6	112397206	112397206	+	Frame_Shift_Del	DEL	T	T	-													caaagggcttcttatgctgcTtttttaaagccccagaactt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:112397205_112397205CT>C	uc003pvq.3	-	7	861	c.747_747AG>G	c.(745-747)aagfs	p.K249fs		NM_016262	NP_057346	Q9UJT0	TBE_HUMAN	Homo sapiens tubulin, epsilon 1 (TUBE1), mRNA.	249					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TCTTATGCTGCTTTTTTAAAG	0.388													-	112397206	T	-	112397206	7	5	74	1	0	1	0	1	0	0	0	0	16760	1609	56	0	701	0	TUBE1	6	112397206	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	516513	112397206	58717861	661	50932											
TSPYL4	23270	broad.mit.edu	37	chr6	116573986	116573986	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggctgccttggtgggcctcGaattcctctacggggccctt	13	13	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:116573986G>A	uc003pwn.2	-	1	1276	c.1186C>T	c.(1186-1188)CGA>TGA	p.R396*	DSE_uc011ebf.1_5'Flank|TSPYL4_uc011ebe.1_Nonsense_Mutation_p.R224*|uc003pwo.1_5'Flank	NM_021648	NP_067680	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	396					nucleosome assembly	nucleus					0		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		GGTGGGCCTCGAATTCCTCTA	0.512													A	116573986	G	A	116573986	4	1	74	1	0	0	0	0	0	1	0	0	16658	1066	37	1	62	1	TSPYL4	6	116573986	Nonsense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	4176780	116573986	54541081	662	50933											
RNF217	154214	broad.mit.edu	37	chr6	125402611	125402611	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattcattgcacctctaattAtggttttgggattggcacta	8	7	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:125402611A>G	uc003pzs.2	+	7	975	c.637A>G	c.(637-639)ATG>GTG	p.M213V	RNF217_uc003pzr.2_Missense_Mutation_p.M270V|RNF217_uc003pzt.2_RNA	NM_152553	NP_689766	Q8TC41	RN217_HUMAN	ring finger protein 217	213	Helical; (Potential).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		ACCTCTAATTATGGTTTTGGG	0.368													G	125402611	A	G	125402611	3	3	74	1	0	0	0	0	1	0	0	0	13481	449	16	3	655	3	RNF217	6	125402611	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	8828625	125402611	45712456	663	50934											
FAM54A	113115	broad.mit.edu	37	chr6	136560840	136560840	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aactgaggaggaagtggtggAggaggaggaggagaaagcac	20	3	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:136560840A>T	uc010kgp.1	-	6	1023	c.633T>A	c.(631-633)CCT>CCA	p.P211P	FAM54A_uc003qgt.1_Silent_p.P211P|FAM54A_uc003qgu.1_Silent_p.P168P	NM_001099286	NP_001092756	Q6P444	FA54A_HUMAN	DUF729 domain containing 1	211	Pro-rich.									skin(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00228)|OV - Ovarian serous cystadenocarcinoma(155;0.00504)		gaagtggtggaggaggaggag	0.418													T	136560840	A	T	136560840	2	4	74	1	0	0	0	0	0	0	0	1	5582	291	11	5		5	FAM54A	6	136560840	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	11158229	136560840	34554227	664	50935											
RAB32	10981	broad.mit.edu	37	chr6	146865194	146865194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccatcggggtggacttcGccctcaaggtcctcaactgg	11	15	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:146865194G>A	uc003qln.1	+	1	367	c.187G>A	c.(187-189)GCC>ACC	p.A63T		NM_006834	NP_006825	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	63					protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding				0		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		GGTGGACTTCGCCCTCAAGGT	0.652													A	146865194	G	A	146865194	3	1	74	1	0	0	0	0	1	0	0	0	12921	1087	38	1	189	1	RAB32	6	146865194	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	10304354	146865194	24249873	665	50936											
ZC3H12D	340152	broad.mit.edu	37	chr6	149777984	149777984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccgtgcaccttgcgggaCggcgtgtacaccagcaccgc	13	15	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:149777984C>T	uc003qmn.1	-	3	568	c.498G>A	c.(496-498)CCG>CCA	p.P166P	PPIL4_uc010kic.2_Intron|ZC3H12D_uc003qmm.2_Silent_p.P166P|ZC3H12D_uc010kid.2_Silent_p.P166P	NM_207360	NP_997243	A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	166						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding				0		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		CCTTGCGGGACGGCGTGTACA	0.687													T	149777984	C	T	149777984	2	4	74	1	0	0	0	0	0	0	0	1	17561	523	19	1		1	ZC3H12D	6	149777984	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2912790	149777984	21337083	666	50937											
ZBTB2	57621	broad.mit.edu	37	chr6	151694619	151694619	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggtctgatggacaaacaAcatcttaaagtaattggaga	9	7	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:151694619A>G	uc003qoh.2	-	2	289	c.154T>C	c.(154-156)TTG>CTG	p.L52L		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	52	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		TGGACAAACAACATCTTAAAG	0.433													G	151694619	A	G	151694619	2	3	74	1	0	0	0	0	0	0	0	1	17525	40	2	3		3	ZBTB2	6	151694619	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1916635	151694619	19420448	667	50938											
SYNE1	23345	broad.mit.edu	37	chr6	152826425	152826425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcggttggatctgcctttcActgtctccaagtccaccaat	7	14	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:152826425A>G	uc010kiw.2	-	9	1291	c.689T>C	c.(688-690)GTG>GCG	p.V230A	SYNE1_uc003qot.3_Missense_Mutation_p.V237A|SYNE1_uc003qou.3_Missense_Mutation_p.V230A|SYNE1_uc010kjb.1_Missense_Mutation_p.V230A|SYNE1_uc003qpa.1_Missense_Mutation_p.V230A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	230	Actin-binding.|CH 2.|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)		TCTGCCTTTCACTGTCTCCAA	0.463										HNSCC(10;0.0054)			G	152826425	A	G	152826425	3	3	74	1	0	0	0	0	1	0	0	0	15442	159	6	3	26329	3	SYNE1	6	152826425	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1131806	152826425	18288642	668	50939											
VIP	7432	broad.mit.edu	37	chr6	153078261	153078261	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatctcccgactttccagaAgagttagaaaaatgatgaaa	8	7	1	5			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:153078261A>C	uc003qpe.2	+	6	670	c.498A>C	c.(496-498)GAA>GAC	p.E166D	VIP_uc003qpf.2_Missense_Mutation_p.E165D|VIP_uc010kjd.2_Missense_Mutation_p.E164D	NM_003381	NP_003372	P01282	VIP_HUMAN	vasoactive intestinal peptide isoform 1	166					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity				0		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		ACTTTCCAGAAGAGTTAGAAA	0.408													C	153078261	A	C	153078261	3	2	74	1	0	0	0	0	1	0	0	0	17164	69	3	5	516	5	VIP	6	153078261	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	251836	153078261	18036806	669	50940											
ARID1B	57492	broad.mit.edu	37	chr6	157405969	157405970	+	Frame_Shift_Del	DEL	CT	CT	-													atcccggggggcccatctccCtctcctgttggctctcctgt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:157405968_157405969CCT>C	uc003qqp.3	+	4	2171_2172	c.2171_2172CCT>C	c.(2170-2172)cccfs	p.P724fs	ARID1B_uc003qqo.3_Frame_Shift_Del_p.P737fs|ARID1B_uc003qqn.3_Frame_Shift_Del_p.P724fs|ARID1B_uc003qqq.1_Frame_Shift_Del_p.P108fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	724	Ser-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGCCCATCTCCCTCTCCTGTTG	0.559													-	157405970	CT	-	157405969	7	5	74	1	0	1	0	1	0	0	0	0	914	668	24	0	2233	0	ARID1B	6	157405969	Frame_Shift_Del	DEL	CT	TCGA-BR-8361-01A-11D-2340-08	4327708	157405969	13709098	670	50941											
ARID1B	57492	broad.mit.edu	37	chr6	157511235	157511235	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gattcatccttcccgaaacgGaactccatgactccaaacgc	6	15	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:157511235G>T	uc003qqn.2	+	15	3851	c.3699G>T	c.(3697-3699)CGG>CGT	p.R1233R	ARID1B_uc003qqo.2_Silent_p.R1193R|ARID1B_uc003qqp.2_Silent_p.R1180R	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1238					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCCGAAACGGAACTCCATGA	0.517													T	157511235	G	T	157511235	2	4	74	1	0	0	0	0	0	0	0	1	914	1161	41	5		5	ARID1B	6	157511235	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	105266	157511235	13603832	671	50942											
SYNJ2	8871	broad.mit.edu	37	chr6	158508009	158508010	+	Frame_Shift_Ins	INS	-	-	C													acctcaacccccgcagagacINSccccccctccaagtaagact							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:158508008_158508009A>AC	uc003qqx.2	+	22	3436_3437	c.3330_3331A>AC	c.(3328-3333)agacccfs	p.R1110fs	SYNJ2_uc003qqw.2_Frame_Shift_Ins_p.R1110fs|SYNJ2_uc003qqy.2_Frame_Shift_Ins_p.R873fs|SYNJ2_uc003qqz.2_Frame_Shift_Ins_p.R727fs|SYNJ2_uc003qra.2_Frame_Shift_Ins_p.R453fs	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1110	Pro-rich.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	p.P1113fs*5(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCCCGCAGAGACCCCCCCCTCC	0.634													C	158508010	-	C	158508009	7	5	74	1	0	1	1	0	0	0	0	0	15450	507	18	0	3421	0	SYNJ2	6	158508009	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	996774	158508009	12607058	672	50943											
TULP4	56995	broad.mit.edu	37	chr6	158900999	158900999	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccactgccttcatccccAccatcaaggtaaagccctcc	4	19	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:158900999A>G	uc003qrf.2	+	7	2600	c.1243A>G	c.(1243-1245)ACC>GCC	p.T415A	TULP4_uc011efo.1_Missense_Mutation_p.T415A|TULP4_uc003qrg.2_Missense_Mutation_p.T415A	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	415					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CTTCATCCCCACCATCAAGGT	0.632													G	158900999	A	G	158900999	3	3	74	1	0	0	0	0	1	0	0	0	16773	159	6	3	1269	3	TULP4	6	158900999	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	392990	158900999	12214068	673	50944											
FNDC1	84624	broad.mit.edu	37	chr6	159652977	159652977	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acccgaaaaacctgagccttCctcaccttctcccagagctc	5	18	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:159652977C>A	uc010kjv.2	+	11	1633	c.1433C>A	c.(1432-1434)TCC>TAC	p.S478Y	FNDC1_uc010kjw.1_Missense_Mutation_p.S363Y	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	478						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCTGAGCCTTCCTCACCTTCT	0.507													A	159652977	C	A	159652977	3	1	74	1	0	0	0	0	1	0	0	0	5968	855	30	5	1475	5	FNDC1	6	159652977	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	751978	159652977	11462090	674	50945											
PDE10A	10846	broad.mit.edu	37	chr6	165844963	165844963	+	Splice_Site	DEL	A	A	-													aagatttgctgttgcaacctAaaaaaaacaagaaatacata							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:165844962_165844962TA>T	uc003qun.3	-	9	909	c.664_splice	c.e9-1	p.V222_splice	PDE10A_uc011egj.2_Splice_Site|PDE10A_uc011egk.2_Splice_Site_p.V152_splice|PDE10A_uc003quo.3_Splice_Site_p.V232_splice	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	222	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TGTTGCAACCTAAAAAAAACA	0.328													-	165844963	A	-	165844963	8	5	74	1	0	1	0	1	0	0	1	0	11630	377	13	0		0	PDE10A	6	165844963	Splice_Site	DEL	A	TCGA-BR-8361-01A-11D-2340-08	6191986	165844963	5270104	675	50946											
SFT2D1	113402	broad.mit.edu	37	chr6	166738057	166738057	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagaactgcaatatgcagaaTaacacagccagtcccttctt	6	11	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr6:166738057T>A	uc003qux.2	-	6	408	c.378A>T	c.(376-378)TTA>TTT	p.L126F		NM_145169	NP_660152	Q8WV19	SFT2A_HUMAN	SFT2 domain containing 1	126	Helical; Name=4; (Potential).				protein transport|vesicle-mediated transport	integral to membrane				central_nervous_system(1)	1		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)		ATATGCAGAATAACACAGCCA	0.373													A	166738057	T	A	166738057	3	1	74	1	0	0	0	0	1	0	0	0	14185	1403	49	5	113	5	SFT2D1	6	166738057	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	893094	166738057	4377010	676	50947											
C7orf50	84310	broad.mit.edu	37	chr7	1049694	1049694	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcctctttcttccgttccTttttcagcttcctttccagg	4	15	4	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:1049694T>C	uc003sju.2	-	3	285	c.215A>G	c.(214-216)AAG>AGG	p.K72R	C7orf50_uc003sjs.2_RNA|C7orf50_uc011jvt.1_Missense_Mutation_p.K72R|C7orf50_uc011jvu.1_Missense_Mutation_p.K72R	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN	hypothetical protein LOC84310	72							protein binding				0		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CTTCCGTTCCTTTTTCAGCTT	0.647													C	1049694	T	C	1049694	3	2	74	1	0	0	0	0	1	0	0	0	2399	1609	56	3	381	3	C7orf50	7	1049694	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08		1049694	158088969	677	50948											
INTS1	26173	broad.mit.edu	37	chr7	1539921	1539921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcagctgcttcacggccCcgcacagcacgccctcgatc	8	20	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:1539921C>T	uc003skn.2	-	4	532	c.431G>A	c.(430-432)GGG>GAG	p.G144E	INTS1_uc003skq.2_Missense_Mutation_p.G144E	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	144					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTTCACGGCCCCGCACAGCAC	0.647													T	1539921	C	T	1539921	3	4	74	1	0	0	0	0	1	0	0	0	7775	623	22	4	6321	4	INTS1	7	1539921	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	490227	1539921	157598742	678	50949											
MAD1L1	8379	broad.mit.edu	37	chr7	2108877	2108877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctccgggccagcgcctcGtgggtctcgcgcttcttcct	12	17	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:2108877G>A	uc003slh.1	-	12	1436	c.1170C>T	c.(1168-1170)CAC>CAT	p.H390H	MAD1L1_uc003sle.1_Silent_p.H119H|MAD1L1_uc003slf.1_Silent_p.H390H|MAD1L1_uc003slg.1_Silent_p.H390H|MAD1L1_uc010ksh.1_Silent_p.H390H|MAD1L1_uc003sli.1_Silent_p.H298H|MAD1L1_uc010ksi.1_Silent_p.H343H|MAD1L1_uc010ksj.2_Silent_p.H390H	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	390	Necessary for interaction with NEK2.|Potential.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CCAGCGCCTCGTGGGTCTCGC	0.657													A	2108877	G	A	2108877	2	1	74	1	0	0	0	0	0	0	0	1	9147	1136	40	1		1	MAD1L1	7	2108877	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	568956	2108877	157029786	679	50950											
ISPD	729920	broad.mit.edu	37	chr7	16445839	16445839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccattgaaaattgacctGtggcgggtcactccagcttc	10	11	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:16445839G>A	uc010ktx.2	-	2	381	c.381C>T	c.(379-381)CAC>CAT	p.H127H	ISPD_uc010kty.2_Silent_p.H127H	NM_001101426	NP_001094896	A4D126	ISPD_HUMAN	notch1-induced protein isoform a	127					isoprenoid biosynthetic process		nucleotidyltransferase activity			ovary(1)	1						AAATTGACCTGTGGCGGGTCA	0.423										Multiple Myeloma(15;0.18)			A	16445839	G	A	16445839	2	1	74	1	0	0	0	0	0	0	0	1	7864	1368	48	4		4	ISPD	7	16445839	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	14336962	16445839	142692824	680	50951											
TWIST1	7291	broad.mit.edu	37	chr7	19156599	19156599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtgcgctggcgctcccGcacgttggccatgacccgct	14	16	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:19156599G>A	uc003sum.2	-	1	697	c.346C>T	c.(346-348)CGG>TGG	p.R116W		NM_000474	NP_000465	Q15672	TWST1_HUMAN	twist	116	Basic motif.				aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity				0						TGGCGCTCCCGCACGTTGGCC	0.498									Saethre-Chotzen_syndrome				A	19156599	G	A	19156599	3	1	74	1	0	0	0	0	1	0	0	0	16780	1086	38	1	266	1	TWIST1	7	19156599	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2710760	19156599	139982064	681	50952											
SP8	221833	broad.mit.edu	37	chr7	20824269	20824269	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggtgcgccttgaggtgCgaagtcttgccgtacacctt	13	12	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:20824269C>T	uc003suy.2	-	3	1354	c.1113G>A	c.(1111-1113)TCG>TCA	p.S371S	SP8_uc003suz.2_Silent_p.S389S	NM_198956	NP_945194	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor isoform 2	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1						CCTTGAGGTGCGAAGTCTTGC	0.697													T	20824269	C	T	20824269	2	4	74	1	0	0	0	0	0	0	0	1	14970	755	27	1		1	SP8	7	20824269	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1667670	20824269	138314394	682	50953											
SP8	221833	broad.mit.edu	37	chr7	20824665	20824665	+	Frame_Shift_Del	DEL	C	C	-													gagtgcagcgaggtttggagCcccccggcggcagggtgcag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:20824665delC	uc003suy.2	-	3	958	c.717delG	c.(715-717)GGGfs	p.G239fs	SP8_uc003suz.2_Frame_Shift_Del_p.G257fs	NM_198956	NP_945194	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor isoform 2	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1						AGGTTTGGAGCCCCCCGGCGG	0.711													-	20824665	C	-	20824665	7	5	74	1	0	1	0	1	0	0	0	0	14970	726	26	0	759	0	SP8	7	20824665	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	396	20824665	138313998	683	50954											
TAX1BP1	8887	broad.mit.edu	37	chr7	27824919	27824919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcaattgaaaaagaaacCgaattagacaggtatttctc	7	6	1	3	rs139970643	by1000genomes	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:27824919C>T	uc003szl.2	+	6	908	c.750C>T	c.(748-750)ACC>ACT	p.T250T	TAX1BP1_uc011jzo.1_Silent_p.T250T|TAX1BP1_uc003szk.2_Silent_p.T250T|TAX1BP1_uc011jzp.1_Silent_p.T93T	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	250	Potential.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)	1			GBM - Glioblastoma multiforme(3;0.0823)			AAAAAGAAACCGAATTAGACA	0.269													T	27824919	C	T	27824919	2	4	74	1	0	0	0	0	0	0	0	1	15591	639	23	1		1	TAX1BP1	7	27824919	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	7000254	27824919	131313744	684	50955											
CHN2	1124	broad.mit.edu	37	chr7	29546850	29546850	+	Frame_Shift_Del	DEL	A	A	-													tgattgtttttcagatggtgAaaaggccgatatatctgcca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:29546849_29546849GA>G	uc003szz.3	+	10	1434	c.997_997GA>G	c.(997-999)gaafs	p.E333fs	CHN2_uc011jzs.2_Frame_Shift_Del_p.E408fs|CHN2_uc010kva.3_Intron|CHN2_uc010kvb.3_Intron|CHN2_uc010kvc.3_Frame_Shift_Del_p.E298fs|CHN2_uc011jzt.2_Frame_Shift_Del_p.E346fs|CHN2_uc010kvd.3_Frame_Shift_Del_p.E189fs|CHN2_uc011jzu.2_Frame_Shift_Del_p.E318fs|CHN2_uc010kvh.3_Intron|CHN2_uc010kvi.3_Intron|CHN2_uc010kve.3_Intron|CHN2_uc003taa.3_Frame_Shift_Del_p.E197fs|CHN2_uc010kvf.3_Frame_Shift_Del_p.E139fs|CHN2_uc010kvg.3_Intron|CHN2_uc010kvj.3_Intron|CHN2_uc010kvk.3_Frame_Shift_Del_p.E8fs|CHN2_uc010kvl.3_Intron|CHN2_uc010kvm.3_Frame_Shift_Del_p.E152fs|CHN2_uc011jzv.2_Frame_Shift_Del_p.E126fs	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	333	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TTCAGATGGTGAAAAGGCCGA	0.388													-	29546850	A	-	29546850	7	5	74	1	0	1	0	1	0	0	0	0	3363	246	9	0	1208	0	CHN2	7	29546850	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	1721931	29546850	129591813	685	50956											
NOD1	10392	broad.mit.edu	37	chr7	30485816	30485816	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgagatacttccctccttcActtgttattttgttttttcc	5	11	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:30485816A>G	uc003tav.2	-	9	2917	c.2394T>C	c.(2392-2394)AGT>AGC	p.S798S		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	798	LRR 5.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2						TCCCTCCTTCACTTGTTATTT	0.512													G	30485816	A	G	30485816	2	3	74	1	0	0	0	0	0	0	0	1	10516	156	6	3		3	NOD1	7	30485816	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	938966	30485816	128652847	686	50957											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31126567	31126568	+	Frame_Shift_Ins	INS	-	-	TG													ttctcccagggaccccaactINSgtgtgtgtgacagtgtgggc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:31126566_31126567C>CTG	uc003tca.2	+	10	1122_1123	c.833_834C>CTG	c.(832-834)actfs	p.T278fs	ADCYAP1R1_uc003tcg.3_Frame_Shift_Ins_p.T278fs|ADCYAP1R1_uc003tce.2_Frame_Shift_Ins_p.T278fs|ADCYAP1R1_uc003tcb.2_Frame_Shift_Ins_p.T257fs|ADCYAP1R1_uc003tcc.2_Frame_Shift_Ins_p.T278fs|ADCYAP1R1_uc003tcf.1_5'UTR	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	278					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GGGACCCCAACTGTGTGTGTGA	0.52													TG	31126568	-	TG	31126567	7	5	74	1	0	1	1	0	0	0	0	0	303	1567	55	0	872	0	ADCYAP1R1	7	31126567	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	640751	31126567	128012096	687	50958											
GLI3	2737	broad.mit.edu	37	chr7	42007509	42007509	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaagactgaccaccagggcTtggctgagatgtctgttggg	15	8	1	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:42007509T>A	uc011kbh.1	-	14	2207	c.2116A>T	c.(2116-2118)AGC>TGC	p.S706C	GLI3_uc011kbg.1_Missense_Mutation_p.S647C	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	706					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CCACCAGGGCTTGGCTGAGAT	0.517									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42007509	T	A	42007509	3	1	74	1	0	0	0	0	1	0	0	0	6439	1609	56	5	2634	5	GLI3	7	42007509	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	10880942	42007509	117131154	688	50959											
AEBP1	165	broad.mit.edu	37	chr7	44148743	44148743	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gacagcagccccaaggaggaGaccgacaagtgggcagtgga	16	10	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:44148743G>T	uc003tkb.2	+	8	1361	c.1056G>T	c.(1054-1056)GAG>GAT	p.E352D	AEBP1_uc003tkc.3_5'Flank|AEBP1_uc003tkd.2_5'Flank	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	352					cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CCAAGGAGGAGACCGACAAGT	0.617													T	44148743	G	T	44148743	3	4	74	1	0	0	0	0	1	0	0	0	349	933	33	5	1086	5	AEBP1	7	44148743	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2141234	44148743	114989920	689	50960											
PURB	5814	broad.mit.edu	37	chr7	44924585	44924585	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcacgcaccaagaattcGctcttgagcgcgcgccgcgg	11	15	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:44924585G>A	uc003tme.2	-	1	376	c.363C>T	c.(361-363)AGC>AGT	p.S121S		NM_033224	NP_150093	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	121	By similarity.				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding				0						CCAAGAATTCGCTCTTGAgcg	0.567													A	44924585	G	A	44924585	2	1	74	1	0	0	0	0	0	0	0	1	12828	1078	38	1		1	PURB	7	44924585	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	775842	44924585	114214078	690	50961											
CCM2	83605	broad.mit.edu	37	chr7	45115623	45115623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagcagcgacattgaggcGctgggctgcagcatggacca	14	11	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:45115623G>A	uc003tmo.2	+	10	1448	c.1302G>A	c.(1300-1302)GCG>GCA	p.A434A	CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Silent_p.A376A|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Silent_p.A343A|CCM2_uc003tms.2_Silent_p.A455A	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 2	434					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0						ACATTGAGGCGCTGGGCTGCA	0.632									Familial_Cerebral_Cavernous_Angioma				A	45115623	G	A	45115623	2	1	74	1	0	0	0	0	0	0	0	1	2908	1074	38	1		1	CCM2	7	45115623	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	191038	45115623	114023040	691	50962											
ABCA13	154664	broad.mit.edu	37	chr7	48412044	48412044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagctttctgccctacataGttctattggttctacataac	5	11	4	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:48412044G>A	uc003toq.2	+	33	11108	c.11083G>A	c.(11083-11085)GTT>ATT	p.V3695I	ABCA13_uc010kys.1_Missense_Mutation_p.V769I|ABCA13_uc003tos.1_Missense_Mutation_p.V521I	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3695	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GCCCTACATAGTTCTATTGGT	0.363													A	48412044	G	A	48412044	3	1	74	1	0	0	0	0	1	0	0	0	31	1029	36	4	11042	4	ABCA13	7	48412044	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	3296421	48412044	110726619	692	50963											
ABCA13	154664	broad.mit.edu	37	chr7	48520733	48520733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggaggagtacttgctggCaccatctgaaaaaccaaggt	11	8	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:48520733C>T	uc003toq.2	+	46	13101	c.13076C>T	c.(13075-13077)GCA>GTA	p.A4359V	ABCA13_uc010kys.1_Missense_Mutation_p.A1434V|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.A89V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4359					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TACTTGCTGGCACCATCTGAA	0.408													T	48520733	C	T	48520733	3	4	74	1	0	0	0	0	1	0	0	0	31	710	25	2	13087	2	ABCA13	7	48520733	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	108689	48520733	110617930	693	50964											
FIGNL1	63979	broad.mit.edu	37	chr7	50513345	50513345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcatcaatttcttgtggCcgatttgttgctcccaccac	7	14	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:50513345C>T	uc003tpc.2	-	4	2018	c.1641G>A	c.(1639-1641)CGG>CGA	p.R547R	FIGNL1_uc003tpb.2_Silent_p.R436R|FIGNL1_uc003tpd.2_Silent_p.R547R|FIGNL1_uc003tpe.2_Silent_p.R547R|FIGNL1_uc010kyy.2_Silent_p.R547R	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	547					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			ovary(3)	3	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTTCTTGTGGCCGATTTGTTG	0.398													T	50513345	C	T	50513345	2	4	74	1	0	0	0	0	0	0	0	1	5892	726	26	2		2	FIGNL1	7	50513345	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1992612	50513345	108625318	694	50965											
FIGNL1	63979	broad.mit.edu	37	chr7	50514882	50514882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgcgtaatatctgtgcaCggtatgcatctgccttcggt	11	9	2	0	rs146011869		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:50514882C>T	uc003tpc.2	-	4	481	c.104G>A	c.(103-105)CGT>CAT	p.R35H	FIGNL1_uc003tpb.2_Translation_Start_Site|FIGNL1_uc003tpd.2_Missense_Mutation_p.R35H|FIGNL1_uc003tpe.2_Missense_Mutation_p.R35H|FIGNL1_uc010kyy.2_Missense_Mutation_p.R35H	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	35					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			ovary(3)	3	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TATCTGTGCACGGTATGCATC	0.448													T	50514882	C	T	50514882	3	4	74	1	0	0	0	0	1	0	0	0	5892	536	19	1	1924	1	FIGNL1	7	50514882	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1537	50514882	108623781	695	50966											
AUTS2	26053	broad.mit.edu	37	chr7	70229927	70229927	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcccactgctctgcctccTccaccaccactgacatcagg	5	21	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:70229927T>A	uc003tvw.3	+	8	2147	c.1404T>A	c.(1402-1404)CCT>CCA	p.P468P	AUTS2_uc003tvx.3_Silent_p.P468P|AUTS2_uc011keg.1_5'Flank	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	468										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CTCTGCCTCCTCCACCACCAC	0.423													A	70229927	T	A	70229927	2	1	74	1	0	0	0	0	0	0	0	1	1225	1538	54	5		5	AUTS2	7	70229927	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	19715045	70229927	88908736	696	50967											
WBSCR17	64409	broad.mit.edu	37	chr7	70886044	70886044	+	Frame_Shift_Del	DEL	C	C	-													ctgtggtgcatgtacatcagCcccccaaaagactggtggga							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:70886043_70886043GC>G	uc003tvy.3	+	4	914	c.914_914GC>G	c.(913-915)agcfs	p.S305fs	WBSCR17_uc003tvz.3_Frame_Shift_Del_p.S4fs	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	305						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ATGTACATCAGCCCCCCAAAA	0.587													-	70886044	C	-	70886044	7	5	74	1	0	1	0	1	0	0	0	0	17261	738	26	0	933	0	WBSCR17	7	70886044	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	656117	70886044	88252619	697	50968											
TRIM50	135892	broad.mit.edu	37	chr7	72727084	72727084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcggccgcaggtcatcggGgcggtcggcatcgaagaagg	19	10	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:72727084G>A	uc010lbd.1	-	7	1422	c.1297C>T	c.(1297-1299)CCC>TCC	p.P433S	FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Missense_Mutation_p.P433S|TRIM50_uc003txz.1_Missense_Mutation_p.P432S	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	tripartite motif protein 50A	433	B30.2/SPRY.					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			skin(1)	1						AGGTCATCGGGGCGGTCGGCA	0.677													A	72727084	G	A	72727084	3	1	74	1	0	0	0	0	1	0	0	0	16523	1232	43	4	170	4	TRIM50	7	72727084	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1841040	72727084	86411579	698	50969											
CLDN4	1364	broad.mit.edu	37	chr7	73246063	73246063	+	Frame_Shift_Del	DEL	G	G	-													ccggcctgctgctccttggcGgggggctgctttgctgcaac							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:73246062_73246062CG>C	uc003tzi.4	+	0	870	c.531_531CG>C	c.(529-531)ggcfs	p.G177fs	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	Homo sapiens claudin 4 (CLDN4), mRNA.	177					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				TGCTCCTTGGCGGGGGGCTGC	0.637													-	73246063	G	-	73246063	7	5	74	1	0	1	0	1	0	0	0	0	3487	1116	39	0	534	0	CLDN4	7	73246063	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	518979	73246063	85892600	699	50970											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73933979	73933979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcccccttgcccccagCgacctgggcctgagtcggcc	11	20	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:73933979C>T	uc003uaq.2	+	6	1239	c.846C>T	c.(844-846)AGC>AGT	p.S282S	GTF2IRD1_uc010lbq.2_Silent_p.S314S|GTF2IRD1_uc003uap.2_Silent_p.S282S|GTF2IRD1_uc003uar.1_Silent_p.S282S	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	282						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						TTGCCCCCAGCGACCTGGGCC	0.632													T	73933979	C	T	73933979	2	4	74	1	0	0	0	0	0	0	0	1	6868	767	27	1		1	GTF2IRD1	7	73933979	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	687916	73933979	85204684	700	50971											
SPDYE5	442590	broad.mit.edu	37	chr7	75124536	75124536	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaaaggaagagggagtgGtcagatgaatctgcggagga	18	3	2	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:75124536G>A	uc011kfy.1	+	1	238	c.102G>A	c.(100-102)TGG>TGA	p.W34*		NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	speedy homolog E5	34											0						AGAGGGAGTGGTCAGATGAAT	0.582													A	75124536	G	A	75124536	4	1	74	1	0	0	0	0	0	1	0	0	15031	1270	44	4	104	4	SPDYE5	7	75124536	Nonsense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1190557	75124536	84014127	701	50972											
STYXL1	51657	broad.mit.edu	37	chr7	75633097	75633097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgaagtgacacatgtggcGtaagaagggaagaatctggg	15	4	1	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:75633097G>A	uc003uej.3	-	7	849	c.676C>T	c.(676-678)CGC>TGC	p.R226C	STYXL1_uc003uef.2_Missense_Mutation_p.R32C|STYXL1_uc011kgf.1_Missense_Mutation_p.R88C|STYXL1_uc011kgg.1_Missense_Mutation_p.R78C|STYXL1_uc003ueh.2_Missense_Mutation_p.R88C|STYXL1_uc003uek.3_Missense_Mutation_p.R130C|STYXL1_uc003uel.2_Missense_Mutation_p.R226C|STYXL1_uc003uem.2_Missense_Mutation_p.R226C|STYXL1_uc010ldg.1_RNA|STYXL1_uc010ldh.1_Missense_Mutation_p.R226C|STYXL1_uc003uen.1_Missense_Mutation_p.R226C	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	map kinase phosphatase-like protein MK-STYX	226	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity				0						CACATGTGGCGTAAGAAGGGA	0.557													A	75633097	G	A	75633097	3	1	74	1	0	0	0	0	1	0	0	0	15360	1145	40	1	277	1	STYXL1	7	75633097	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	508561	75633097	83505566	702	50973											
DTX2	113878	broad.mit.edu	37	chr7	76112200	76112200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgtgtcaggccgctaccGccactccatgaccaacctcc	7	21	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:76112200G>A	uc003uff.3	+	5	1200	c.644G>A	c.(643-645)CGC>CAC	p.R215H	DTX2_uc011kgk.1_Missense_Mutation_p.R124H|DTX2_uc003ufg.3_Missense_Mutation_p.R215H|DTX2_uc003ufh.3_Missense_Mutation_p.R215H|DTX2_uc003ufj.3_Missense_Mutation_p.R215H	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	deltex 2 isoform a	215					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GGCCGCTACCGCCACTCCATG	0.657													A	76112200	G	A	76112200	3	1	74	1	0	0	0	0	1	0	0	0	4794	1087	38	1	650	1	DTX2	7	76112200	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	479103	76112200	83026463	703	50974											
RSBN1L	222194	broad.mit.edu	37	chr7	77379032	77379032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtctcattaaaggagccacGagttcagaataacctcaaaa	7	9	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:77379032G>A	uc010ldt.1	+	3	1039	c.995G>A	c.(994-996)CGA>CAA	p.R332Q	RSBN1L_uc003ugm.2_Missense_Mutation_p.R114Q	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	332						nucleus				ovary(1)	1						AAGGAGCCACGAGTTCAGAAT	0.388													A	77379032	G	A	77379032	3	1	74	1	0	0	0	0	1	0	0	0	13697	1058	37	1	1005	1	RSBN1L	7	77379032	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1266832	77379032	81759631	704	50975											
GNAT3	346562	broad.mit.edu	37	chr7	80141143	80141143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctaatagtagcagctttaCggttcttgcatctcgctcag	8	11	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:80141143C>T	uc011kgu.1	-	1	100	c.100G>A	c.(100-102)GTA>ATA	p.V34I	CD36_uc003uhc.2_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha	34					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						AGCAGCTTTACGGTTCTTGCA	0.368													T	80141143	C	T	80141143	3	4	74	1	0	0	0	0	1	0	0	0	6513	536	19	1	994	1	GNAT3	7	80141143	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2762111	80141143	78997520	705	50976											
CACNA2D1	781	broad.mit.edu	37	chr7	81591314	81591314	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcttggacagggaggcCgtgaagtcatcatcctccat	11	12	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:81591314C>T	uc003uhr.1	-	36	3118	c.2862G>A	c.(2860-2862)ACG>ACA	p.T954T	CACNA2D1_uc011kgy.1_Silent_p.T166T	NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	966	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ACAGGGAGGCCGTGAAGTCAT	0.478													T	81591314	C	T	81591314	2	4	74	1	0	0	0	0	0	0	0	1	2548	639	23	1		1	CACNA2D1	7	81591314	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1450171	81591314	77547349	706	50977											
PCLO	27445	broad.mit.edu	37	chr7	82585204	82585205	+	Frame_Shift_Ins	INS	-	-	T													tcgtcaaaatacaaacttgtINSttttttctgtgatgactctg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:82585203_82585204G>GT	uc003uhx.2	-	4	5354_5355	c.5065_5066C>AC	c.(5065-5067)acafs	p.T1689fs	PCLO_uc003uhv.2_Frame_Shift_Ins_p.T1689fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1620					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.T1689K(3)|p.T1689fs*6(1)|p.T1620fs*6(1)|p.T1620K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATACAAACTTGTTTTTTTCTGT	0.426													T	82585205	-	T	82585204	7	5	74	1	0	1	1	0	0	0	0	0	11583	1725	60	0	10464	0	PCLO	7	82585204	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	993890	82585204	76553459	707	50978											
SEMA3A	10371	broad.mit.edu	37	chr7	83634741	83634741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaattgataatttacatccGttttgatcactattgggcga	7	6	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:83634741G>A	uc003uhz.2	-	11	1589	c.1274C>T	c.(1273-1275)ACG>ATG	p.T425M		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	425	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						ATTTACATCCGTTTTGATCAC	0.368													A	83634741	G	A	83634741	3	1	74	1	0	0	0	0	1	0	0	0	14024	1145	40	1	1069	1	SEMA3A	7	83634741	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1049537	83634741	75503922	708	50979											
ABCB4	5244	broad.mit.edu	37	chr7	87032525	87032525	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttgtctgatgagggctcGggcaatagcaatcctctgtt	13	8	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:87032525G>A	uc003uiv.1	-	27	3656	c.3580C>T	c.(3580-3582)CGA>TGA	p.R1194*	ABCB4_uc003uiw.1_Nonsense_Mutation_p.R1187*|ABCB4_uc003uix.1_Nonsense_Mutation_p.R1140*	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	1194	ABC transporter 2.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					ATGAGGGCTCGGGCAATAGCA	0.438													A	87032525	G	A	87032525	4	1	74	1	0	0	0	0	0	1	0	0	43	1124	39	1	288	1	ABCB4	7	87032525	Nonsense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	3397784	87032525	72106138	709	50980											
ABCB4	5244	broad.mit.edu	37	chr7	87092227	87092227	+	Splice_Site	DEL	A	A	-													ccaatcggagtatcgaaactAaaaaaaggaaataaaataat							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:87092226_87092226TA>T	uc003uiv.1	-	4	212	c.136_splice	c.e4-1	p.F46_splice	ABCB4_uc003uiw.1_Splice_Site_p.F46_splice|ABCB4_uc003uix.1_Splice_Site_p.F46_splice|ABCB4_uc003uiy.3_Splice_Site_p.F46_splice	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	46					cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GTATCGAAACTAAAAAAAGGA	0.343													-	87092227	A	-	87092227	8	5	74	1	0	1	0	1	0	0	1	0	43	377	13	0		0	ABCB4	7	87092227	Splice_Site	DEL	A	TCGA-BR-8361-01A-11D-2340-08	59702	87092227	72046436	710	50981											
ABCB1	5243	broad.mit.edu	37	chr7	87160650	87160650	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttatctttcagtgctTgtccagacaacattttcatt	4	10	4	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:87160650T>C	uc003uiz.1	-	22	3063	c.2645A>G	c.(2644-2646)CAA>CGA	p.Q882R	ABCB1_uc011khc.1_Missense_Mutation_p.Q818R	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	882	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTTCAGTGCTTGTCCAGACAA	0.343													C	87160650	T	C	87160650	3	2	74	1	0	0	0	0	1	0	0	0	40	1812	63	3	1229	3	ABCB1	7	87160650	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	68423	87160650	71978013	711	50982											
ABCB1	5243	broad.mit.edu	37	chr7	87195486	87195486	+	Frame_Shift_Del	DEL	A	A	-													atcctactataaacccagtgAaaaatgttgccattgactga							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:87195485_87195485GA>G	uc003uiz.2	-	7	1096	c.603_603TC>C	c.(601-603)ttcfs	p.F201fs	ABCB1_uc011khc.2_Frame_Shift_Del_p.F137fs	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	201	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.F201Y(2)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TAAACCCAGTGAAAAATGTTG	0.403													-	87195486	A	-	87195486	7	5	74	1	0	1	0	1	0	0	0	0	40	246	9	0	3328	0	ABCB1	7	87195486	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	34836	87195486	71943177	712	50983											
AKAP9	10142	broad.mit.edu	37	chr7	91670110	91670110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaacatcaacaggcaacGgaattgttaaggcaagcaca	9	9	1	1	rs141237587		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:91670110G>A	uc003ulg.2	+	18	5040	c.4815G>A	c.(4813-4815)ACG>ACA	p.T1605T	AKAP9_uc003ule.2_Silent_p.T1617T|AKAP9_uc003ulf.2_Silent_p.T1605T|AKAP9_uc003uli.2_Silent_p.T1230T	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1617	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACAGGCAACGGAATTGTTAA	0.418			T	BRAF	papillary thyroid								A	91670110	G	A	91670110	2	1	74	1	0	0	0	0	0	0	0	1	459	1103	39	1		1	AKAP9	7	91670110	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	4474624	91670110	67468553	713	50984											
PEX1	5189	broad.mit.edu	37	chr7	92146932	92146932	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaacagaggttgctgacgcGttatatatactaggaggttg	12	5	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:92146932G>A	uc003uly.2	-	5	993	c.897C>T	c.(895-897)AAC>AAT	p.N299N	PEX1_uc011khr.1_Silent_p.N91N|PEX1_uc010ley.2_Silent_p.N299N|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	299					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TTGCTGACGCGTTATATATAC	0.368													A	92146932	G	A	92146932	2	1	74	1	0	0	0	0	0	0	0	1	11735	1136	40	1		1	PEX1	7	92146932	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	476822	92146932	66991731	714	50985											
C7orf64	84060	broad.mit.edu	37	chr7	92158877	92158877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaattagttgagcgattcGctttatatggtgcaattgaa	11	4	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:92158877G>A	uc003ulz.2	+	2	240	c.199G>A	c.(199-201)GCT>ACT	p.A67T	PEX1_uc003uly.2_5'Flank|PEX1_uc011khr.1_5'Flank|PEX1_uc010ley.2_5'Flank|PEX1_uc011khs.1_5'Flank|C7orf64_uc011khu.1_Missense_Mutation_p.A67T|C7orf64_uc003uma.2_Missense_Mutation_p.A67T	NM_032120	NP_115496	Q5RL73	CG064_HUMAN	hypothetical protein LOC84060	67							nucleotide binding			ovary(2)	2						TGAGCGATTCGCTTTATATGG	0.348													A	92158877	G	A	92158877	3	1	74	1	0	0	0	0	1	0	0	0	2410	1087	38	1	205	1	C7orf64	7	92158877	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	11945	92158877	66979786	715	50986											
CALCR	799	broad.mit.edu	37	chr7	93072952	93072952	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ataccaccgcaagcgttgctTctcagtaaacacagccacga	7	14	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:93072952T>A	uc003umv.1	-	10	1129	c.868A>T	c.(868-870)AAG>TAG	p.K290*	CALCR_uc011kia.1_Nonsense_Mutation_p.K70*|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Nonsense_Mutation_p.K256*|CALCR_uc003umw.2_Nonsense_Mutation_p.K256*	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor isoform 2 precursor	272	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	AAGCGTTGCTTCTCAGTAAAC	0.443													A	93072952	T	A	93072952	4	1	74	1	0	0	0	0	0	1	0	0	2579	1792	62	5	682	5	CALCR	7	93072952	Nonsense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	914075	93072952	66065711	716	50987											
TFPI2	7980	broad.mit.edu	37	chr7	93519517	93519517	+	Frame_Shift_Del	DEL	C	C	-													tgttggcgttgccctcgcagCccccgtacaggaactggcgg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:93519516_93519516GC>G	uc003umy.1	-	1	279	c.204_204GC>C	c.(202-204)ggcfs	p.G68fs	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Frame_Shift_Del_p.G68fs|TFPI2_uc003una.1_Frame_Shift_Del_p.G57fs	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	68	BPTI/Kunitz inhibitor 1.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TGCCCTCGCAGCCCCCGTACA	0.607													-	93519517	C	-	93519517	7	5	74	1	0	1	0	1	0	0	0	0	15806	739	26	0	520	0	TFPI2	7	93519517	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	446565	93519517	65619146	717	50988											
SGCE	8910	broad.mit.edu	37	chr7	94257549	94257549	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccccacattttcagctgTtggggacccatataggactc	8	13	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:94257549T>C	uc003unl.2	-	3	466	c.355A>G	c.(355-357)ACA>GCA	p.T119A	SGCE_uc003unm.2_Missense_Mutation_p.T119A|SGCE_uc003unn.2_Missense_Mutation_p.T119A|SGCE_uc011kic.1_Missense_Mutation_p.T78A|SGCE_uc011kid.1_Missense_Mutation_p.T155A	NM_003919	NP_003910	O43556	SGCE_HUMAN	sarcoglycan, epsilon isoform 2	119	Extracellular (Potential).				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(1)	1	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTTTCAGCTGTTGGGGACCCA	0.338													C	94257549	T	C	94257549	3	2	74	1	0	0	0	0	1	0	0	0	14202	1725	60	3	1146	3	SGCE	7	94257549	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	738032	94257549	64881114	718	50989											
OCM2	4951	broad.mit.edu	37	chr7	97616448	97616448	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagttctctggcaccactcTcaaacttctggaggaaaaac	7	12	4	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:97616448T>C	uc003upc.2	-	3	215	c.215A>G	c.(214-216)GAG>GGG	p.E72G		NM_006188	NP_006179	P0CE71	OCM2_HUMAN	oncomodulin-like	72	EF-hand 1.						calcium ion binding				0						GGCACCACTCTCAAACTTCTG	0.448													C	97616448	T	C	97616448	3	2	74	1	0	0	0	0	1	0	0	0	10822	1551	54	3	122	3	OCM2	7	97616448	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	3358899	97616448	61522215	719	50990											
ZNF394	84124	broad.mit.edu	37	chr7	99097689	99097689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactcggcgtcactgccgcGcctctgggcggtcaagctgg	14	15	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:99097689G>A	uc003uqs.2	-	1	189	c.28C>T	c.(28-30)CGC>TGC	p.R10C	ZNF394_uc003uqt.2_5'UTR|ZNF394_uc003uqu.1_Missense_Mutation_p.R10C	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	zinc finger protein 394	10					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCACTGCCGCGCCTCTGGGCG	0.592													A	99097689	G	A	99097689	3	1	74	1	0	0	0	0	1	0	0	0	17877	1087	38	1	1669	1	ZNF394	7	99097689	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1481241	99097689	60040974	720	50991											
ZNF498	221785	broad.mit.edu	37	chr7	99226971	99226971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggccctgcaggcagtgcGcctgggcttcctcctcccca	13	17	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:99226971G>A	uc003url.1	+	8	1290	c.963G>A	c.(961-963)GCG>GCA	p.A321A	ZNF498_uc003urm.1_Silent_p.A157A|ZNF498_uc010lge.1_Silent_p.A157A|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Silent_p.A249A|ZNF498_uc003uro.1_Silent_p.A105A	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	321					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CAGGCAGTGCGCCTGGGCTTC	0.637													A	99226971	G	A	99226971	2	1	74	1	0	0	0	0	0	0	0	1	17944	1074	38	1		1	ZNF498	7	99226971	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	129282	99226971	59911692	721	50992											
AZGP1	563	broad.mit.edu	37	chr7	99565777	99565777	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcaggaagcagtgagtaCcttgccggtccaggatattt	14	8	0	1	rs112067579		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:99565777C>T	uc003ush.2	-	3	657	c.613_splice	c.e3+1	p.D205_splice		NM_001185	NP_001176	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc						antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GCAGTGAGTACCTTGCCGGTC	0.542													T	99565777	C	T	99565777	5	4	74	1	0	0	0	0	0	0	1	0	1239	521	18	4	290	4	AZGP1	7	99565777	Splice_Site	SNP	C	TCGA-BR-8361-01A-11D-2340-08	338806	99565777	59572886	722	50993											
MCM7	4176	broad.mit.edu	37	chr7	99695354	99695354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gattgaagctgccagcttttCgtagaaatcctcctctgtag	9	10	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:99695354C>T	uc003usw.1	-	9	1510	c.1000G>A	c.(1000-1002)GAA>AAA	p.E334K	MCM7_uc003usv.1_Missense_Mutation_p.E158K|MCM7_uc003usx.1_Missense_Mutation_p.E158K	NM_005916	NP_005907	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	334	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GCCAGCTTTTCGTAGAAATCC	0.507													T	99695354	C	T	99695354	3	4	74	1	0	0	0	0	1	0	0	0	9392	893	31	1	1187	1	MCM7	7	99695354	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	129577	99695354	59443309	723	50994											
GNB2	2783	broad.mit.edu	37	chr7	100276158	100276158	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcacctctgttgccttctcGcgcagcggacggctgctgct	11	15	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:100276158G>A	uc003uwb.2	+	9	1110	c.837G>A	c.(835-837)TCG>TCA	p.S279S	GNB2_uc003uwc.2_Silent_p.S235S|GNB2_uc010lhd.2_Silent_p.S235S|GNB2_uc010lhe.2_Silent_p.S235S|GNB2_uc003uwd.2_Silent_p.S179S|GNB2_uc010lhf.2_Silent_p.S179S|GNB2_uc003uwe.2_Silent_p.S279S|GNB2_uc003uwf.2_Silent_p.S179S	NM_005273	NP_005264	P62879	GBB2_HUMAN	guanine nucleotide-binding protein, beta-2	279	WD 6.				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			ovary(2)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				TTGCCTTCTCGCGCAGCGGAC	0.622													A	100276158	G	A	100276158	2	1	74	1	0	0	0	0	0	0	0	1	6517	1074	38	1		1	GNB2	7	100276158	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	580804	100276158	58862505	724	50995											
GIGYF1	64599	broad.mit.edu	37	chr7	100281714	100281714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgtggcggcggCggtggtggcggtgtcaggtc	21	9	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:100281714C>T	uc003uwg.1	-	15	2806	c.1797G>A	c.(1795-1797)CCG>CCA	p.P599P		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	599	Poly-Pro.|Gln-rich.									large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTGGCGGCGGCGGTGGTGGCG	0.672													T	100281714	C	T	100281714	2	4	74	1	0	0	0	0	0	0	0	1	6377	755	27	1		1	GIGYF1	7	100281714	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	5556	100281714	58856949	725	50996											
GIGYF1	64599	broad.mit.edu	37	chr7	100283065	100283065	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggggatggggagctggacTtctcctcctgaggaggcagt	18	8	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:100283065T>C	uc003uwg.1	-	10	2103	c.1094A>G	c.(1093-1095)AAG>AGG	p.K365R		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	365										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGAGCTGGACTTCTCCTCCTG	0.632													C	100283065	T	C	100283065	3	2	74	1	0	0	0	0	1	0	0	0	6377	1609	56	3	2073	3	GIGYF1	7	100283065	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	1351	100283065	58855598	726	50997											
CUX1	1523	broad.mit.edu	37	chr7	101845106	101845106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctccgaggaggccaaggcCgaagaaacgggcggcgggaa	17	11	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:101845106C>T	uc003uyx.3	+	18	2567	c.2529C>T	c.(2527-2529)GCC>GCT	p.A843A	CUX1_uc003uys.3_Silent_p.A854A|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	843					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						AGGCCAAGGCCGAAGAAACGG	0.677													T	101845106	C	T	101845106	2	4	74	1	0	0	0	0	0	0	0	1	4064	639	23	1		1	CUX1	7	101845106	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1562041	101845106	57293557	727	50998											
CUX1	1523	broad.mit.edu	37	chr7	101847780	101847780	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catccggatgcagctctggcTgaacggcgagctaggccagg	15	12	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:101847780T>C	uc003uyx.3	+	19	3055	c.3017T>C	c.(3016-3018)CTG>CCG	p.L1006P	CUX1_uc003uys.3_Missense_Mutation_p.L1017P|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	1006	CUT 2.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						CAGCTCTGGCTGAACGGCGAG	0.652													C	101847780	T	C	101847780	3	2	74	1	0	0	0	0	1	0	0	0	4064	1580	55	3	3158	3	CUX1	7	101847780	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	2674	101847780	57290883	728	50999											
HBP1	26959	broad.mit.edu	37	chr7	106829851	106829851	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tagaagatggtttacttaccGtagagtgtaagctggaccac	11	7	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:106829851G>C	uc003vdy.2	+	7	1066	c.880G>C	c.(880-882)GTA>CTA	p.V294L	HBP1_uc011klv.1_Missense_Mutation_p.V304L|HBP1_uc003vdz.2_Missense_Mutation_p.V294L|HBP1_uc003vea.2_Missense_Mutation_p.V294L|HBP1_uc003veb.1_Missense_Mutation_p.V294L	NM_012257	NP_036389	O60381	HBP1_HUMAN	HMG-box transcription factor 1	294	AXH.				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			skin(1)	1						TTTACTTACCGTAGAGTGTAA	0.353													C	106829851	G	C	106829851	3	2	74	1	0	0	0	0	1	0	0	0	6985	1145	40	5	902	5	HBP1	7	106829851	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	4982071	106829851	52308812	729	51000											
LRRN3	54674	broad.mit.edu	37	chr7	110763255	110763255	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccgaactgagcaacttaCaagaactctatattaatcac	5	10	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:110763255C>T	uc003vft.3	+	4	1473	c.427C>T	c.(427-429)CAA>TAA	p.Q143*	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Nonsense_Mutation_p.Q143*|LRRN3_uc003vfs.3_Nonsense_Mutation_p.Q143*	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	143	LRR 4.|Extracellular (Potential).					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GAGCAACTTACAAGAACTCTA	0.358													T	110763255	C	T	110763255	4	4	74	1	0	0	0	0	0	1	0	0	9036	479	17	4	429	4	LRRN3	7	110763255	Nonsense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3933404	110763255	48375408	730	51001											
LRRN3	54674	broad.mit.edu	37	chr7	110763755	110763755	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgtggataacctgccAgatttaagaaaaatagaagc	9	7	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:110763755A>G	uc003vft.3	+	4	1973	c.927A>G	c.(925-927)CCA>CCG	p.P309P	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.P309P|LRRN3_uc003vfs.3_Silent_p.P309P	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	309	Extracellular (Potential).					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ATAACCTGCCAGATTTAAGAA	0.398													G	110763755	A	G	110763755	2	3	74	1	0	0	0	0	0	0	0	1	9036	175	7	3		3	LRRN3	7	110763755	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	500	110763755	48374908	731	51002											
TMEM168	64418	broad.mit.edu	37	chr7	112423866	112423866	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccatgattctatcaaggcTattgtaatctgtcctgtgag	9	8	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:112423866T>G	uc003vgn.2	-	2	1407	c.1015A>C	c.(1015-1017)AGC>CGC	p.S339R	TMEM168_uc010lju.2_Missense_Mutation_p.S339R|TMEM168_uc011kmr.1_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	transmembrane protein 168	339						integral to membrane|transport vesicle				ovary(1)|central_nervous_system(1)	2						CTATCAAGGCTATTGTAATCT	0.368													G	112423866	T	G	112423866	3	3	74	1	0	0	0	0	1	0	0	0	16080	1522	53	5	1094	5	TMEM168	7	112423866	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	1660111	112423866	46714797	732	51003											
C7orf60	154743	broad.mit.edu	37	chr7	112472732	112472732	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaggcttgtagcaaccTaaaaacagatattttataag	7	7	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:112472732T>C	uc003vgo.1	-	4	601	c.474_splice	c.e4-1	p.E158_splice	C7orf60_uc011kms.1_Splice_Site_p.E184_splice	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	hypothetical protein LOC154743											ovary(2)|skin(1)	3						TGTAGCAACCTAAAAACAGAT	0.249													C	112472732	T	C	112472732	5	2	74	1	0	0	0	0	0	0	1	0	2407	1536	53	3	753	3	C7orf60	7	112472732	Splice_Site	SNP	T	TCGA-BR-8361-01A-11D-2340-08	48866	112472732	46665931	733	51004											
C7orf58	79974	broad.mit.edu	37	chr7	120687010	120687010	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agaaggaacaccctgtatatCcaaggaagtcatgtgccagt	10	9	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:120687010C>A	uc003vjq.3	+	4	950	c.503C>A	c.(502-504)TCC>TAC	p.S168Y	C7orf58_uc003vjr.1_Missense_Mutation_p.S168Y|C7orf58_uc003vjs.3_Missense_Mutation_p.S168Y	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	168						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					CCCTGTATATCCAAGGAAGTC	0.388													A	120687010	C	A	120687010	3	1	74	1	0	0	0	0	1	0	0	0	2405	855	30	5	513	5	C7orf58	7	120687010	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	8214278	120687010	38451653	734	51005											
AASS	10157	broad.mit.edu	37	chr7	121738915	121738915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattgaaagtgactgagcaCgttccctatttaaaaaaaaa	6	8	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:121738915C>T	uc003vka.2	-	13	1508	c.1412G>A	c.(1411-1413)CGT>CAT	p.R471H	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.R471H|AASS_uc011knw.1_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	471					protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	TGACTGAGCACGTTCCCTATT	0.318													T	121738915	C	T	121738915	3	4	74	1	0	0	0	0	1	0	0	0	24	536	19	1	1412	1	AASS	7	121738915	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1051905	121738915	37399748	735	51006											
CADPS2	93664	broad.mit.edu	37	chr7	122033572	122033572	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactccatgagatccacataGcggacaaccaagggtacaaa	9	11	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:122033572G>A	uc010lkp.2	-	20	2974	c.2811C>T	c.(2809-2811)CGC>CGT	p.R937R	CADPS2_uc011knx.1_Silent_p.R312R|CADPS2_uc003vkg.3_Silent_p.R631R|CADPS2_uc010lkq.2_Silent_p.R931R	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	937	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						GATCCACATAGCGGACAACCA	0.448													A	122033572	G	A	122033572	2	1	74	1	0	0	0	0	0	0	0	1	2571	958	34	2		2	CADPS2	7	122033572	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	294657	122033572	37105091	736	51007											
CADPS2	93664	broad.mit.edu	37	chr7	122194676	122194676	+	Frame_Shift_Del	DEL	T	T	-													ttaagtcagaatcctggctaTtttttggaactaccattcgg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:122194676delT	uc010lkp.2	-	8	1566	c.1403delA	c.(1402-1404)AATfs	p.N468fs	CADPS2_uc003vkg.3_Frame_Shift_Del_p.N168fs|CADPS2_uc010lkq.2_Frame_Shift_Del_p.N468fs	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	468					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						ATCCTGGCTATTTTTTGGAAC	0.363													-	122194676	T	-	122194676	7	5	74	1	0	1	0	1	0	0	0	0	2571	1493	52	0	2623	0	CADPS2	7	122194676	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	161104	122194676	36943987	737	51008											
TAS2R16	50833	broad.mit.edu	37	chr7	122635118	122635118	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtggaggccaggaacaGgatgaaaggaataaccaatg	15	5	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:122635118G>A	uc003vkl.1	-	1	637	c.571C>T	c.(571-573)CTG>TTG	p.L191L		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	191	Helical; Name=5; (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2						GCCAGGAACAGGATGAAAGGA	0.448													A	122635118	G	A	122635118	2	1	74	1	0	0	0	0	0	0	0	1	15566	991	35	4		4	TAS2R16	7	122635118	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	440442	122635118	36503545	738	51009											
SND1	27044	broad.mit.edu	37	chr7	127447555	127447555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggataagaacaagaaactGcgtcccctgtatgacattcc	8	10	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:127447555G>A	uc003vmi.2	+	11	1396	c.1170G>A	c.(1168-1170)CTG>CTA	p.L390L	SND1_uc010lle.2_Silent_p.L43L	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	390	Nuclear localization signal (Potential).|TNase-like 3.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						ACAAGAAACTGCGTCCCCTGT	0.353													A	127447555	G	A	127447555	2	1	74	1	0	0	0	0	0	0	0	1	14844	1306	46	2		2	SND1	7	127447555	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	4812437	127447555	31691108	739	51010											
PLXNA4	91584	broad.mit.edu	37	chr7	131895821	131895821	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccagactggggctgggggaGgttcttggccttcagcgtga	17	10	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:131895821G>T	uc003vra.3	-	10	2408	c.2179C>A	c.(2179-2181)CTC>ATC	p.L727I		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	727	Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GGCTGGGGGAGGTTCTTGGCC	0.637													T	131895821	G	T	131895821	3	4	74	1	0	0	0	0	1	0	0	0	12122	1000	35	5	3597	5	PLXNA4	7	131895821	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	4448266	131895821	27242842	740	51011											
PLXNA4	91584	broad.mit.edu	37	chr7	131910964	131910964	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagacaaagctggtgctggcGaaggtcatgccggtctcctt	13	10	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:131910964G>A	uc003vra.3	-	8	2167	c.1938C>T	c.(1936-1938)TTC>TTT	p.F646F		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	646	Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						TGGTGCTGGCGAAGGTCATGC	0.547													A	131910964	G	A	131910964	2	1	74	1	0	0	0	0	0	0	0	1	12122	1049	37	1		1	PLXNA4	7	131910964	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	15143	131910964	27227699	741	51012											
UBN2	254048	broad.mit.edu	37	chr7	138978021	138978022	+	Frame_Shift_Del	DEL	CT	CT	-													ggctaatgcctcacctctgaCtctcatgacatcacctttgt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:138978021_138978022delCT	uc011kqr.1	+	16	3713_3714	c.3713_3714delCT	c.(3712-3714)ACTfs	p.T1238fs		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1238										ovary(1)|skin(1)	2						TCACCTCTGACTCTCATGACAT	0.446													-	138978022	CT	-	138978021	7	5	74	1	0	1	0	1	0	0	0	0	16890	565	20	0	3775	0	UBN2	7	138978021	Frame_Shift_Del	DEL	CT	TCGA-BR-8361-01A-11D-2340-08	7067057	138978021	20160642	742	51013											
TAS2R4	50832	broad.mit.edu	37	chr7	141478534	141478534	+	Frame_Shift_Del	DEL	T	T	-													aggtcagtctacctgtctgcTttttttgtgttgtgtttcat							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:141478533_141478533CT>C	uc003vwq.1	+	0	245	c.245_245CT>C	c.(244-246)gctfs	p.A82fs		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	Homo sapiens taste receptor, type 2, member 4 (TAS2R4), mRNA.	82					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TACCTGTCTGCTTTTTTTGTG	0.428													-	141478534	T	-	141478534	7	5	74	1	0	1	0	1	0	0	0	0	15574	1596	56	0	248	0	TAS2R4	7	141478534	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	2500513	141478534	17660129	743	51014											
EPHB6	2051	broad.mit.edu	37	chr7	142561853	142561853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacactttgtggagcggcgcGgggcccagagggcgcacatt	16	12	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:142561853G>A	uc011kst.1	+	7	1082	c.295G>A	c.(295-297)GGG>AGG	p.G99R	EPHB6_uc011ksu.1_Missense_Mutation_p.G99R|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	99	Extracellular (Potential).					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					GGAGCGGCGCGGGGCCCAGAG	0.647													A	142561853	G	A	142561853	3	1	74	1	0	0	0	0	1	0	0	0	5178	1116	39	1	305	1	EPHB6	7	142561853	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1083319	142561853	16576810	744	51015											
TRPV5	56302	broad.mit.edu	37	chr7	142622792	142622792	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccatacttgttccacttgaaGctcaccagctccttcactgg	6	15	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:142622792G>C	uc003wby.1	-	8	1218	c.954C>G	c.(952-954)AGC>AGG	p.S318R	TRPV5_uc003wbz.2_Missense_Mutation_p.S318R	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	318	Cytoplasmic (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					TCCACTTGAAGCTCACCAGCT	0.532													C	142622792	G	C	142622792	3	2	74	1	0	0	0	0	1	0	0	0	16596	962	34	5	1267	5	TRPV5	7	142622792	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	60939	142622792	16515871	745	51016											
EPHA1	2041	broad.mit.edu	37	chr7	143092032	143092032	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggacataattgtgattacTgaggtagttcatgccagatg	12	5	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:143092032T>G	uc003wcz.2	-	14	2308	c.2221A>C	c.(2221-2223)AGT>CGT	p.S741R		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	741	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTGTGATTACTGAGGTAGTTC	0.567													G	143092032	T	G	143092032	3	3	74	1	0	0	0	0	1	0	0	0	5165	1580	55	5	729	5	EPHA1	7	143092032	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	469240	143092032	16046631	746	51017											
FAM115C	285966	broad.mit.edu	37	chr7	143400268	143400268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacggccgaggccgcctcGtggttgtgtcccatgagggc	15	14	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:143400268G>A	uc003wdf.2	+	2	264	c.181G>A	c.(181-183)GTG>ATG	p.V61M	FAM115C_uc003wdg.2_Intron|FAM115C_uc011ktk.1_Intron|FAM115C_uc003wdh.2_Missense_Mutation_p.V61M|FAM115C_uc011ktm.1_Intron|uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron	NM_001130025	NP_001123497	A6NFQ2	F115C_HUMAN	hypothetical protein LOC285966 isoform A	61											0						AGGCCGCCTCGTGGTTGTGTC	0.602													A	143400268	G	A	143400268	3	1	74	1	0	0	0	0	1	0	0	0	5406	1145	40	1	183	1	FAM115C	7	143400268	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	308236	143400268	15738395	747	51018											
ARHGEF5	7984	broad.mit.edu	37	chr7	144075928	144075928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggcactggagaaagccgaCgtggtgatggtgactcagca	15	8	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:144075928C>T	uc003wel.2	+	14	4723	c.4605C>T	c.(4603-4605)GAC>GAT	p.D1535D	ARHGEF5_uc003wem.2_Silent_p.D336D	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	rho guanine nucleotide exchange factor 5	1535	SH3.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			skin(2)	2	Melanoma(164;0.14)					AGAAAGCCGACGTGGTGATGG	0.557													T	144075928	C	T	144075928	2	4	74	1	0	0	0	0	0	0	0	1	909	535	19	1		1	ARHGEF5	7	144075928	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	675660	144075928	15062735	748	51019											
ZNF786	136051	broad.mit.edu	37	chr7	148768359	148768359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggcctctccccaccgtgcCggagccggtgggctctcagc	13	18	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:148768359C>T	uc003wfh.2	-	4	1642	c.1505G>A	c.(1504-1506)CGG>CAG	p.R502Q	ZNF786_uc011kuk.1_Missense_Mutation_p.R465Q|ZNF786_uc003wfi.2_Missense_Mutation_p.R416Q	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	502	C2H2-type 7; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCCACCGTGCCGGAGCCGGTG	0.662													T	148768359	C	T	148768359	3	4	74	1	0	0	0	0	1	0	0	0	18155	652	23	1	847	1	ZNF786	7	148768359	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	4692431	148768359	10370304	749	51020											
SSPO	23145	broad.mit.edu	37	chr7	149521182	149521182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctcccacagtgaatgcCggcgtggggagctgcactgc	13	16	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:149521182C>T	uc010lpk.2	+	95	13522	c.13522C>T	c.(13522-13524)CGG>TGG	p.R4508W	SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	4508					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGTGAATGCCGGCGTGGGGA	0.502													T	149521182	C	T	149521182	3	4	74	1	0	0	0	0	1	0	0	0	15188	643	23	1	13890	1	SSPO	7	149521182	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	752823	149521182	9617481	750	51021											
SSPO	23145	broad.mit.edu	37	chr7	149522390	149522390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcgaggcccaagacactGtattcaccctggactgtgcc	11	14	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:149522390G>A	uc010lpk.2	+	101	14017	c.14017G>A	c.(14017-14019)GTA>ATA	p.V4673I	SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_RNA|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_RNA	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	4673	TIL 6.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAAGACACTGTATTCACCCT	0.632													A	149522390	G	A	149522390	3	1	74	1	0	0	0	0	1	0	0	0	15188	1377	48	4	14402	4	SSPO	7	149522390	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1208	149522390	9616273	751	51022											
ZNF775	285971	broad.mit.edu	37	chr7	150093851	150093851	+	Frame_Shift_Del	DEL	C	C	-													gctcccgggtcagcctccggCcccctgagcccctcgctttc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:150093851delC	uc003whf.1	+	3	407	c.282delC	c.(280-282)GGCfs	p.G94fs		NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	zinc finger protein 775	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGCCTCCGGCCCCCTGAGCC	0.687													-	150093851	C	-	150093851	7	5	74	1	0	1	0	1	0	0	0	0	18145	726	26	0	288	0	ZNF775	7	150093851	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	571461	150093851	9044812	752	51023											
GIMAP8	155038	broad.mit.edu	37	chr7	150171329	150171329	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcgatcattgatgctccGgacatctcatctttaaagaa	7	9	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:150171329G>A	uc003whj.2	+	4	1242	c.912G>A	c.(910-912)CCG>CCA	p.P304P		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	304						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TTGATGCTCCGGACATCTCAT	0.458													A	150171329	G	A	150171329	2	1	74	1	0	0	0	0	0	0	0	1	6385	1103	39	1		1	GIMAP8	7	150171329	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	77478	150171329	8967334	753	51024											
GIMAP1	170575	broad.mit.edu	37	chr7	150417880	150417880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgcctggctgtcggcccGgctgtggaagtggctgaagt	19	10	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:150417880G>A	uc003whq.2	+	3	875	c.788G>A	c.(787-789)CGG>CAG	p.R263Q	GIMAP1_uc003whp.2_Missense_Mutation_p.R271Q	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	263	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGTCGGCCCGGCTGTGGAAG	0.746													A	150417880	G	A	150417880	3	1	74	1	0	0	0	0	1	0	0	0	6379	1116	39	1	794	1	GIMAP1	7	150417880	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	246551	150417880	8720783	754	51025											
MLL3	58508	broad.mit.edu	37	chr7	151836879	151836880	+	Splice_Site	DEL	AA	AA	-													agcatacaggcccagcccctAaaaaaaagtgtgtacatact							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:151836878_151836879TAA>T	uc003wla.3	-	56	14563	c.14344_splice	c.e56-1	p.G4782_splice	MLL3_uc003wkz.3_Splice_Site_p.G3896_splice|MLL3_uc003wkx.3_Splice_Site_p.G940_splice|MLL3_uc003wky.3_Splice_Site_p.G2342_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4782	SET.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCCCAGCCCCTAAAAAAAAGTG	0.411			N		medulloblastoma								-	151836880	AA	-	151836879	8	5	74	1	0	1	0	1	0	0	1	0	9622	377	13	0		0	MLL3	7	151836879	Splice_Site	DEL	AA	TCGA-BR-8361-01A-11D-2340-08	1418999	151836879	7301784	755	51026											
MLL3	58508	broad.mit.edu	37	chr7	151845154	151845154	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acttagaaccaggtcttcatGgccttgttccacaatcctga	7	12	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:151845154G>C	uc003wla.2	-	52	14077	c.13858C>G	c.(13858-13860)CAT>GAT	p.H4620D	MLL3_uc003wkz.2_Missense_Mutation_p.H3738D|MLL3_uc003wkx.2_Missense_Mutation_p.H778D|MLL3_uc003wky.2_Missense_Mutation_p.H2184D	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4620	FYR C-terminal.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AGGTCTTCATGGCCTTGTTCC	0.507			N		medulloblastoma								C	151845154	G	C	151845154	3	2	74	1	0	0	0	0	1	0	0	0	9622	1348	47	5	909	5	MLL3	7	151845154	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	8275	151845154	7293509	756	51027											
MLL3	58508	broad.mit.edu	37	chr7	151859695	151859695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccaccgactcttggtcgGcttgttgaggaagctcactg	12	11	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:151859695G>A	uc003wla.2	-	43	11186	c.10967C>T	c.(10966-10968)GCC>GTC	p.A3656V	MLL3_uc003wkz.2_Missense_Mutation_p.A2717V|MLL3_uc003wky.2_Missense_Mutation_p.A1165V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3656					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CTCTTGGTCGGCTTGTTGAGG	0.517			N		medulloblastoma								A	151859695	G	A	151859695	3	1	74	1	0	0	0	0	1	0	0	0	9622	1203	42	2	3836	2	MLL3	7	151859695	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	14541	151859695	7278968	757	51028											
MLL3	58508	broad.mit.edu	37	chr7	151970816	151970816	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggagcttggtcaatgtgtTctggacaaagcaggaagatg	14	6	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:151970816T>C	uc003wla.2	-	7	1205	c.986A>G	c.(985-987)GAA>GGA	p.E329G		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	329					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTCAATGTGTTCTGGACAAAG	0.388			N		medulloblastoma								C	151970816	T	C	151970816	3	2	74	1	0	0	0	0	1	0	0	0	9622	1783	62	3	13961	3	MLL3	7	151970816	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	111121	151970816	7167847	758	51029											
PTPRN2	5799	broad.mit.edu	37	chr7	157926632	157926632	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagacagggaagactcAgggtgctcggacttcttcct	12	10	3	3	rs148933237		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr7:157926632A>G	uc003wno.2	-	9	1414	c.1293T>C	c.(1291-1293)CCT>CCC	p.P431P	PTPRN2_uc003wnp.2_Silent_p.P414P|PTPRN2_uc003wnq.2_Silent_p.P431P|PTPRN2_uc003wnr.2_Silent_p.P393P|PTPRN2_uc011kwa.1_Silent_p.P454P	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	431	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGGAAGACTCAGGGTGCTCGG	0.607													G	157926632	A	G	157926632	2	3	74	1	0	0	0	0	0	0	0	1	12808	175	7	3		3	PTPRN2	7	157926632	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	5955816	157926632	1212031	759	51030											
DLGAP2	9228	broad.mit.edu	37	chr8	1514042	1514042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtccatcggacagagacCgcttggagagcaccagacgt	13	11	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:1514042C>T	uc003wpl.2	+	3	1281	c.1184C>T	c.(1183-1185)CCG>CTG	p.P395L	DLGAP2_uc003wpm.2_Missense_Mutation_p.P395L	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	474					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGACAGAGACCGCTTGGAGAG	0.587													T	1514042	C	T	1514042	3	4	74	1	0	0	0	0	1	0	0	0	4560	652	23	1	1190	1	DLGAP2	8	1514042	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08		1514042	144849980	760	51031											
PPP1R3B	79660	broad.mit.edu	37	chr8	8998667	8998667	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctcttccaggtgtcgaaCgtcatccttattttcacggt	8	11	3	0	rs138887555		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:8998667C>T	uc003wsn.3	-	2	660	c.495G>A	c.(493-495)ACG>ACA	p.T165T	PPP1R3B_uc003wso.3_Silent_p.T164T	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	165	CBM21.				glycogen metabolic process					ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		AGGTGTCGAACGTCATCCTTA	0.502													T	8998667	C	T	8998667	2	4	74	1	0	0	0	0	0	0	0	1	12372	523	19	1		1	PPP1R3B	8	8998667	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	7484625	8998667	137365355	761	51032											
PRSS55	203074	broad.mit.edu	37	chr8	10387198	10387198	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctcactgcttatattcCgaggagctgttgtaagtacc	11	10	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:10387198C>T	uc003wta.2	+	2	351	c.336C>T	c.(334-336)TCC>TCT	p.S112S	uc010lru.2_Intron|PRSS55_uc003wtb.2_RNA	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	hypothetical protein LOC203074 precursor	112	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			ovary(1)	1						GCTTATATTCCGAGGAGCTGT	0.592													T	10387198	C	T	10387198	2	4	74	1	0	0	0	0	0	0	0	1	12634	639	23	1		1	PRSS55	8	10387198	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1388531	10387198	135976824	762	51033											
RP1L1	94137	broad.mit.edu	37	chr8	10467297	10467297	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggggcacggctctgcagaGgcagaggctcttcctgcttc	15	13	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:10467297G>T	uc003wtc.2	-	4	4540	c.4311C>A	c.(4309-4311)GCC>GCA	p.A1437A		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1437					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GCTCTGCAGAGGCAGAGGCTC	0.637													T	10467297	G	T	10467297	2	4	74	1	0	0	0	0	0	0	0	1	13533	987	35	5		5	RP1L1	8	10467297	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	80099	10467297	135896725	763	51034											
RP1L1	94137	broad.mit.edu	37	chr8	10469919	10469919	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgctggcctcctgctgagaGgtctcggcccttgccttgcc	12	16	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:10469919G>T	uc003wtc.2	-	4	1918	c.1689C>A	c.(1687-1689)ACC>ACA	p.T563T		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	563					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CCTGCTGAGAGGTCTCGGCCC	0.647													T	10469919	G	T	10469919	2	4	74	1	0	0	0	0	0	0	0	1	13533	987	35	5		5	RP1L1	8	10469919	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2622	10469919	135894103	764	51035											
XKR6	286046	broad.mit.edu	37	chr8	11058827	11058827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcccacccccacgccacCgccatcggatttcgccgcca	8	21	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:11058827C>T	uc003wtk.1	-	1	49	c.22G>A	c.(22-24)GGT>AGT	p.G8S		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	8	Gly-rich.					integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CCCACGCCACCGCCATCGGAT	0.453													T	11058827	C	T	11058827	3	4	74	1	0	0	0	0	1	0	0	0	17432	652	23	1	1915	1	XKR6	8	11058827	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	588908	11058827	135305195	765	51036											
BLK	640	broad.mit.edu	37	chr8	11418890	11418890	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccaacatcctggtgtctgAggccttgtgctgcaaaattg	12	10	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:11418890A>G	uc003wty.2	+	11	1690	c.1109A>G	c.(1108-1110)GAG>GGG	p.E370G	BLK_uc003wtz.2_Missense_Mutation_p.E299G|BLK_uc003wua.2_Missense_Mutation_p.E206G	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	370	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|stomach(1)|ovary(1)	3			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CTGGTGTCTGAGGCCTTGTGC	0.537													G	11418890	A	G	11418890	3	3	74	1	0	0	0	0	1	0	0	0	1444	304	11	3	1147	3	BLK	8	11418890	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	360063	11418890	134945132	766	51037											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19363191	19363191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtacccctccttccccGtggggctgttggccctgggc	13	17	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:19363191G>A	uc011kyn.1	-	4	1219	c.155C>T	c.(154-156)ACG>ATG	p.T52M	CSGALNACT1_uc011kyo.1_Missense_Mutation_p.T52M|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.T51M|CSGALNACT1_uc003wzh.2_RNA	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate	52	Lumenal (Potential).				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)		CTCCTTCCCCGTGGGGCTGTT	0.627													A	19363191	G	A	19363191	3	1	74	1	0	0	0	0	1	0	0	0	3938	1145	40	1	1471	1	CSGALNACT1	8	19363191	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	7944301	19363191	127000831	767	51038											
LZTS1	11178	broad.mit.edu	37	chr8	20110994	20110994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtctggaggggcggggtGcagctggtggctggcactct	19	9	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:20110994G>A	uc003wzr.2	-	2	559	c.448C>T	c.(448-450)CAC>TAC	p.H150Y	LZTS1_uc010ltg.1_Missense_Mutation_p.H150Y	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	150					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GGGGCGGGGTGCAGCTGGTGG	0.672													A	20110994	G	A	20110994	3	1	74	1	0	0	0	0	1	0	0	0	9138	1319	46	2	1350	2	LZTS1	8	20110994	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	747803	20110994	126253028	768	51039											
EGR3	1960	broad.mit.edu	37	chr8	22548122	22548122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgcgctcgtcgctgcgcGcaaacttgcgcccgcagaac	12	16	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:22548122G>A	uc003xcm.1	-	2	1386	c.1028C>T	c.(1027-1029)GCG>GTG	p.A343V	EGR3_uc011kzn.1_Missense_Mutation_p.A305V|EGR3_uc011kzo.1_Missense_Mutation_p.A289V	NM_004430	NP_004421	Q06889	EGR3_HUMAN	early growth response 3	343	C2H2-type 3.				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GTCGCTGCGCGCAAACTTGCG	0.647													A	22548122	G	A	22548122	3	1	74	1	0	0	0	0	1	0	0	0	4973	1087	38	1	139	1	EGR3	8	22548122	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2437128	22548122	123815900	769	51040											
ESCO2	157570	broad.mit.edu	37	chr8	27649496	27649496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggttggaagaaagaacGtgtagtagcagagttttggg	17	3	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:27649496G>A	uc003xgg.2	+	8	1363	c.1280G>A	c.(1279-1281)CGT>CAT	p.R427H	ESCO2_uc010luy.1_RNA	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	establishment of cohesion 1 homolog 2	427					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			central_nervous_system(1)	1		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AAGAAAGAACGTGTAGTAGCA	0.368									SC_Phocomelia_syndrome				A	27649496	G	A	27649496	3	1	74	1	0	0	0	0	1	0	0	0	5249	1145	40	1	1306	1	ESCO2	8	27649496	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	5101374	27649496	118714526	770	51041											
KCNU1	157855	broad.mit.edu	37	chr8	36675180	36675180	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgcctaggtttattgtggtCtgtggaaacatcactgtgga	12	7	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:36675180C>T	uc010lvw.2	+	10	1095	c.1008C>T	c.(1006-1008)GTC>GTT	p.V336V	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	336	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTATTGTGGTCTGTGGAAACA	0.453													T	36675180	C	T	36675180	2	4	74	1	0	0	0	0	0	0	0	1	8093	900	32	4		4	KCNU1	8	36675180	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	9025684	36675180	109688842	771	51042											
ADRB3	155	broad.mit.edu	37	chr8	37823668	37823668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacagctcgcagccagtgGcgcccaacggccagtggcca	12	17	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:37823668G>A	uc003xkr.1	-	1	517	c.320C>T	c.(319-321)GCC>GTC	p.A107V		NM_000025	NP_000016	P13945	ADRB3_HUMAN	adrenergic, beta-3-, receptor	107	Extracellular (By similarity).				carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity			lung(2)	2	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	GCAGCCAGTGGCGCCCAACGG	0.692													A	37823668	G	A	37823668	3	1	74	1	0	0	0	0	1	0	0	0	342	1203	42	2	914	2	ADRB3	8	37823668	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1148488	37823668	108540354	772	51043											
ANK1	286	broad.mit.edu	37	chr8	41530137	41530137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcccaactcggggccccGcggttcctctgagagtgccc	13	16	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:41530137G>A	uc003xok.2	-	38	4915	c.4831C>T	c.(4831-4833)CGG>TGG	p.R1611W	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.R1611W|ANK1_uc003xoj.2_Missense_Mutation_p.R1611W|ANK1_uc003xol.2_Intron|ANK1_uc003xom.2_Missense_Mutation_p.R1652W	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1611	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCGGGGCCCCGCGGTTCCTCT	0.567													A	41530137	G	A	41530137	3	1	74	1	0	0	0	0	1	0	0	0	620	1086	38	1	1160	1	ANK1	8	41530137	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	3706469	41530137	104833885	773	51044											
ANK1	286	broad.mit.edu	37	chr8	41552810	41552810	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagctcgcggtctccacgGccatgggaggcaaagtgcgg	16	12	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:41552810G>A	uc003xok.2	-	27	3084	c.3000C>T	c.(2998-3000)GGC>GGT	p.G1000G	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Silent_p.G316G|ANK1_uc003xoi.2_Silent_p.G1000G|ANK1_uc003xoj.2_Silent_p.G1000G|ANK1_uc003xol.2_Silent_p.G1000G|ANK1_uc003xom.2_Silent_p.G1041G	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1000	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGTCTCCACGGCCATGGGAGG	0.607													A	41552810	G	A	41552810	2	1	74	1	0	0	0	0	0	0	0	1	620	1190	42	2		2	ANK1	8	41552810	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	22673	41552810	104811212	774	51045											
MYST3	7994	broad.mit.edu	37	chr8	41834758	41834758	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatatccttcttctgatgaTgatgatgctgattggctgga	10	6	2	5			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:41834758T>C	uc010lxb.2	-	8	1675	c.1131A>G	c.(1129-1131)TCA>TCG	p.S377S	MYST3_uc010lxc.2_Silent_p.S377S|MYST3_uc003xon.3_Silent_p.S377S|MYST3_uc010lxd.2_Silent_p.S377S	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	377	Poly-Ser.|Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CTTCTGATGATGATGATGCTG	0.423													C	41834758	T	C	41834758	2	2	74	1	0	0	0	0	0	0	0	1	10104	1451	51	3		3	MYST3	8	41834758	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	281948	41834758	104529264	775	51046											
VDAC3	7419	broad.mit.edu	37	chr8	42252613	42252613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtataggctttggcatgGtcaagatagacctgaaaacc	11	7	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:42252613G>A	uc011lct.1	+	4	222	c.79G>A	c.(79-81)GTC>ATC	p.V27I	VDAC3_uc010lxk.2_Missense_Mutation_p.V27I|VDAC3_uc003xpc.2_Missense_Mutation_p.V27I	NM_005662	NP_005653	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3 isoform b	27	Beta stranded; (By similarity).				adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			upper_aerodigestive_tract(1)	1	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	CTTTGGCATGGTCAAGATAGA	0.313													A	42252613	G	A	42252613	3	1	74	1	0	0	0	0	1	0	0	0	17145	1261	44	4	85	4	VDAC3	8	42252613	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	417855	42252613	104111409	776	51047											
RB1CC1	9821	broad.mit.edu	37	chr8	53569498	53569498	+	Frame_Shift_Del	DEL	T	T	-													catcattttcaacatggagcTtttttaagtcttctaacact							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:53569497_53569497CT>C	uc003xre.4	-	14	3450	c.2892_2892AG>G	c.(2890-2892)aagfs	p.K964fs	RB1CC1_uc003xrf.4_Frame_Shift_Del_p.K964fs	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	964					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CAACATGGAGCTTTTTTAAGT	0.353													-	53569498	T	-	53569498	7	5	74	1	0	1	0	1	0	0	0	0	13099	1609	56	0	1933	0	RB1CC1	8	53569498	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	11316885	53569498	92794524	777	51048											
RP1	6101	broad.mit.edu	37	chr8	55541377	55541377	+	Frame_Shift_Del	DEL	T	T	-													gcagatattatcaaaccatcTttttttcctgggtctacccg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:55541376_55541376CT>C	uc003xsd.1	+	3	5082	c.4934_4934CT>C	c.(4933-4935)tctfs	p.S1645fs	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1645					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.S1645C(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATCAAACCATCTTTTTTTCCT	0.378													-	55541377	T	-	55541377	7	5	74	1	0	1	0	1	0	0	0	0	13532	1596	56	0	4945	0	RP1	8	55541377	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	1971879	55541377	90822645	778	51049											
RP1	6101	broad.mit.edu	37	chr8	55542473	55542473	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaaacaaaaaagaattAacttcttggggttagaggaa	10	3	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:55542473A>G	uc003xsd.1	+	4	6179	c.6031A>G	c.(6031-6033)AAC>GAC	p.N2011D	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	2011					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAAAGAATTAACTTCTTGGG	0.294													G	55542473	A	G	55542473	3	3	74	1	0	0	0	0	1	0	0	0	13532	362	13	3	6041	3	RP1	8	55542473	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1096	55542473	90821549	779	51050											
IMPAD1	54928	broad.mit.edu	37	chr8	57876593	57876593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttttcttgactcttatcaGgcacatccaaaagtgctaaa	5	10	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:57876593G>A	uc003xte.3	-	5	1122	c.839C>T	c.(838-840)CCT>CTT	p.P280L		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	280						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			ovary(1)	1		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				ACTCTTATCAGGCACATCCAA	0.313													A	57876593	G	A	57876593	3	1	74	1	0	0	0	0	1	0	0	0	7725	1000	35	4	244	4	IMPAD1	8	57876593	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2334120	57876593	88487429	780	51051											
ASPH	444	broad.mit.edu	37	chr8	62555985	62555985	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttctactactggttcActggaatctaaaaaacaaaa	4	9	5	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:62555985A>G	uc003xuj.2	-	9	986	c.717T>C	c.(715-717)AGT>AGC	p.S239S	ASPH_uc011leg.1_Silent_p.S210S|ASPH_uc003xuo.2_Silent_p.S220S|ASPH_uc011leh.1_Silent_p.S206S|ASPH_uc003xul.2_Silent_p.S225S|ASPH_uc011lei.1_Silent_p.S225S|ASPH_uc011lej.1_Silent_p.S182S|ASPH_uc003xun.2_Silent_p.S196S|ASPH_uc011lek.1_Silent_p.S220S|ASPH_uc003xum.2_Silent_p.S239S	NM_004318	NP_004309	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase isoform a	239	Glu-rich.|Lumenal (Potential).				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			ovary(3)	3	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTACTGGTTCACTGGAATCTA	0.249													G	62555985	A	G	62555985	2	3	74	1	0	0	0	0	0	0	0	1	1053	156	6	3		3	ASPH	8	62555985	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	4679392	62555985	83808037	781	51052											
NCOA2	10499	broad.mit.edu	37	chr8	71041004	71041004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggttctgcactaggcccGtgggcctgaggcccggtctg	16	13	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:71041004G>A	uc003xyn.1	-	17	3698	c.3536C>T	c.(3535-3537)ACG>ATG	p.T1179M	NCOA2_uc011lfb.1_Missense_Mutation_p.T267M	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1179					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CACTAGGCCCGTGGGCCTGAG	0.557			T	RUNXBP2	AML								A	71041004	G	A	71041004	3	1	74	1	0	0	0	0	1	0	0	0	10229	1145	40	1	886	1	NCOA2	8	71041004	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	8485019	71041004	75323018	782	51053											
HNF4G	3174	broad.mit.edu	37	chr8	76459914	76459914	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagagcgggaatgaaaaaagAaggtaataataatgatgatg	12	1	0	5			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:76459914A>G	uc003yaq.2	+	4	509	c.239A>G	c.(238-240)GAA>GGA	p.E80G	HNF4G_uc003yap.1_Missense_Mutation_p.E80G|HNF4G_uc003yar.2_Missense_Mutation_p.E117G	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	80	Nuclear receptor.				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			ATGAAAAAAGAAGGTAATAAT	0.299													G	76459914	A	G	76459914	3	3	74	1	0	0	0	0	1	0	0	0	7254	246	9	3	360	3	HNF4G	8	76459914	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	5418910	76459914	69904108	783	51054											
ZFHX4	79776	broad.mit.edu	37	chr8	77763350	77763350	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcatgtctacaagtatcGctgtaaccattgtagcttgg	9	10	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:77763350G>T	uc003yav.2	+	10	4445	c.4058G>T	c.(4057-4059)CGC>CTC	p.R1353L	ZFHX4_uc003yau.1_Missense_Mutation_p.R1398L|ZFHX4_uc003yaw.1_Missense_Mutation_p.R1353L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1353	C2H2-type 10.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TACAAGTATCGCTGTAACCAT	0.438										HNSCC(33;0.089)			T	77763350	G	T	77763350	3	4	74	1	0	0	0	0	1	0	0	0	17632	1087	38	5	4227	5	ZFHX4	8	77763350	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1303436	77763350	68600672	784	51055											
ZFHX4	79776	broad.mit.edu	37	chr8	77766490	77766495	+	In_Frame_Del	DEL	CAGCCA	CAGCCA	-													caccacaggcatccacagccCagccacagccacagccacag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:77766490_77766495delCAGCCA	uc003yav.2	+	10	7585_7590	c.7198_7203delCAGCCA	c.(7198-7203)CAGCCAdel	p.QP2406del	ZFHX4_uc003yau.1_In_Frame_Del_p.QP2451del|ZFHX4_uc003yaw.1_In_Frame_Del_p.QP2406del	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2406_2407	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATccacagcccagccacagccacagc	0.461										HNSCC(33;0.089)			-	77766495	CAGCCA	-	77766490	7	5	74	1	0	1	0	1	0	0	0	0	17632	595	21	0	7367	0	ZFHX4	8	77766490	In_Frame_Del	DEL	CAGCCA	TCGA-BR-8361-01A-11D-2340-08	3140	77766490	68597532	785	51056											
ZFHX4	79776	broad.mit.edu	37	chr8	77767554	77767554	+	Frame_Shift_Del	DEL	T	T	-													tatgatcaaaataaaaccgaTtttgatgagacttcatcgat							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:77767554delT	uc003yav.2	+	10	8649	c.8262delT	c.(8260-8262)GATfs	p.D2754fs	ZFHX4_uc003yau.1_Frame_Shift_Del_p.D2799fs|ZFHX4_uc003yaw.1_Frame_Shift_Del_p.D2754fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2754						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATAAAACCGATTTTGATGAGA	0.443										HNSCC(33;0.089)			-	77767554	T	-	77767554	7	5	74	1	0	1	0	1	0	0	0	0	17632	1490	52	0	8431	0	ZFHX4	8	77767554	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	1064	77767554	68596468	786	51057											
FAM82B	51115	broad.mit.edu	37	chr8	87498764	87498764	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctagtgctctttttgcataCtctagggcttcatacaccaa	6	11	4	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:87498764C>T	uc003ydu.2	-	4	604	c.444G>A	c.(442-444)GAG>GAA	p.E148E	FAM82B_uc011lfz.1_Silent_p.E148E|FAM82B_uc011lga.1_Silent_p.E148E	NM_016033	NP_057117	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	148						microtubule|spindle pole	binding			ovary(1)	1						TTTTTGCATACTCTAGGGCTT	0.413													T	87498764	C	T	87498764	2	4	74	1	0	0	0	0	0	0	0	1	5632	564	20	4		4	FAM82B	8	87498764	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	9731210	87498764	58865258	787	51058											
OSGIN2	734	broad.mit.edu	37	chr8	90937493	90937493	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtattgataggttctcatccTaatctgtcttttctgaagga	8	7	4	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:90937493T>C	uc003yeg.2	+	6	1597	c.1251T>C	c.(1249-1251)CCT>CCC	p.P417P	OSGIN2_uc003yeh.2_Silent_p.P461P	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family	417					germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GTTCTCATCCTAATCTGTCTT	0.393													C	90937493	T	C	90937493	2	2	74	1	0	0	0	0	0	0	0	1	11290	1509	53	3		3	OSGIN2	8	90937493	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	3438729	90937493	55426529	788	51059											
TMEM55A	55529	broad.mit.edu	37	chr8	92020972	92020972	+	Splice_Site	DEL	T	T	-													ccaatggtagggaacttacaTttttttgcagtgtgggcatt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:92020971_92020971AT>A	uc003yes.3	-	5	765	c.539_splice	c.e5+1	p.I180_splice		NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	Homo sapiens transmembrane protein 55A (TMEM55A), mRNA.	180						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	p.I180fs*6(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			GGGAACTTACATTTTTTTGCA	0.318													-	92020972	T	-	92020972	8	5	74	1	0	1	0	1	0	0	1	0	16178	1507	52	0	247	0	TMEM55A	8	92020972	Splice_Site	DEL	T	TCGA-BR-8361-01A-11D-2340-08	1083479	92020972	54343050	789	51060											
RUNX1T1	862	broad.mit.edu	37	chr8	92988171	92988171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctggcacgtatccagacGcaggcctgtgaaggaattcc	11	13	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:92988171G>A	uc003yfd.2	-	9	1394	c.1310C>T	c.(1309-1311)GCG>GTG	p.A437V	RUNX1T1_uc003yfc.1_Missense_Mutation_p.A410V|RUNX1T1_uc003yfe.1_Missense_Mutation_p.A400V|RUNX1T1_uc010mao.2_Missense_Mutation_p.A410V|RUNX1T1_uc011lgi.1_Missense_Mutation_p.A448V|RUNX1T1_uc010man.1_Missense_Mutation_p.A62V|RUNX1T1_uc003yfb.1_Missense_Mutation_p.A400V	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	437					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)			GTATCCAGACGCAGGCCTGTG	0.488													A	92988171	G	A	92988171	3	1	74	1	0	0	0	0	1	0	0	0	13747	1087	38	1	516	1	RUNX1T1	8	92988171	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	967199	92988171	53375851	790	51061											
POP1	10940	broad.mit.edu	37	chr8	99162863	99162863	+	Frame_Shift_Del	DEL	A	A	-													agaatcttcttgaaaagtacAaaaggtaagaaactggcttc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:99162863delA	uc003yij.3	+	14	2153	c.2053delA	c.(2053-2055)AAAfs	p.K685fs	POP1_uc011lgv.1_Frame_Shift_Del_p.K685fs|POP1_uc003yik.2_Frame_Shift_Del_p.K685fs	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	685					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TGAAAAGTACAAAAGGTAAGA	0.413													-	99162863	A	-	99162863	7	5	74	1	0	1	0	1	0	0	0	0	12251	131	5	0	2103	0	POP1	8	99162863	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	6174692	99162863	47201159	791	51062											
POP1	10940	broad.mit.edu	37	chr8	99168334	99168334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcactctggcacctttctGctgtccctgggagcagttaa	11	12	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:99168334G>A	uc003yij.3	+	15	2214	c.2114G>A	c.(2113-2115)TGC>TAC	p.C705Y	POP1_uc011lgv.1_Missense_Mutation_p.C705Y|POP1_uc003yik.2_Missense_Mutation_p.C705Y	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	705					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GCACCTTTCTGCTGTCCCTGG	0.473													A	99168334	G	A	99168334	3	1	74	1	0	0	0	0	1	0	0	0	12251	1319	46	2	2168	2	POP1	8	99168334	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	5471	99168334	47195688	792	51063											
KCNS2	3788	broad.mit.edu	37	chr8	99440690	99440690	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacaacgacgcctccaagttCgatgggcagcccctcggcaa	10	15	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:99440690C>T	uc003yin.2	+	2	833	c.483C>T	c.(481-483)TTC>TTT	p.F161F		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	161	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CCTCCAAGTTCGATGGGCAGC	0.607													T	99440690	C	T	99440690	2	4	74	1	0	0	0	0	0	0	0	1	8089	883	31	1		1	KCNS2	8	99440690	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	272356	99440690	46923332	793	51064											
KLF10	7071	broad.mit.edu	37	chr8	103663847	103663847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagacctgcagatgaccGtctctgaggaaggcacagaa	13	10	1	5			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:103663847G>A	uc011lhk.1	-	3	867	c.713C>T	c.(712-714)ACG>ATG	p.T238M	KLF10_uc011lhj.1_Missense_Mutation_p.T227M	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Kruppel-like factor 10 isoform a	238					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GCAGATGACCGTCTCTGAGGA	0.522											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	103663847	G	A	103663847	3	1	74	1	0	0	0	0	1	0	0	0	8338	1145	40	1	737	1	KLF10	8	103663847	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	4223157	103663847	42700175	794	51065											
RIMS2	9699	broad.mit.edu	37	chr8	104897650	104897650	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gatctccatcagattatgctGataggcgatctcaacatgaa	8	9	3	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:104897650G>C	uc003yls.2	+	2	398	c.157G>C	c.(157-159)GAT>CAT	p.D53H	RIMS2_uc003ylp.2_Missense_Mutation_p.D275H|RIMS2_uc003ylw.2_Missense_Mutation_p.D83H|RIMS2_uc003ylq.2_Missense_Mutation_p.D83H|RIMS2_uc003ylr.2_Missense_Mutation_p.D83H	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	306					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGATTATGCTGATAGGCGATC	0.393										HNSCC(12;0.0054)			C	104897650	G	C	104897650	3	2	74	1	0	0	0	0	1	0	0	0	13368	1290	45	5	963	5	RIMS2	8	104897650	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1233803	104897650	41466372	795	51066											
RIMS2	9699	broad.mit.edu	37	chr8	105001556	105001556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaatgtggaacaggggcttcGagggacccgcactatgaccg	15	10	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:105001556G>A	uc003yls.2	+	15	2526	c.2285G>A	c.(2284-2286)CGA>CAA	p.R762Q	RIMS2_uc003ylp.2_Missense_Mutation_p.R984Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R776Q|RIMS2_uc003ylq.2_Missense_Mutation_p.R776Q|RIMS2_uc003ylr.2_Missense_Mutation_p.R823Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1046					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAGGGGCTTCGAGGGACCCGC	0.393										HNSCC(12;0.0054)			A	105001556	G	A	105001556	3	1	74	1	0	0	0	0	1	0	0	0	13368	1058	37	1	3143	1	RIMS2	8	105001556	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	103906	105001556	41362466	796	51067											
ATAD2	29028	broad.mit.edu	37	chr8	124346559	124346559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctctatgcctaataagaCgatctatgaagtgagtaaaa	9	6	2	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:124346559C>T	uc003yqh.3	-	23	3323	c.3215G>A	c.(3214-3216)CGT>CAT	p.R1072H	ATAD2_uc011lii.1_Missense_Mutation_p.R863H|ATAD2_uc003yqi.3_RNA	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1072					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CCTAATAAGACGATCTATGAA	0.328													T	124346559	C	T	124346559	3	4	74	1	0	0	0	0	1	0	0	0	1071	536	19	1	981	1	ATAD2	8	124346559	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	19345003	124346559	22017463	797	51068											
FER1L6	654463	broad.mit.edu	37	chr8	125072848	125072848	+	Frame_Shift_Del	DEL	T	T	-													ctcctctctgtggatcggccTcaggctctcattgagtgcgg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:125072848delT	uc003yqw.2	+	24	3251	c.3045delT	c.(3043-3045)CCTfs	p.P1015fs	uc003yqy.1_RNA	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1015	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGGATCGGCCTCAGGCTCTCA	0.547													-	125072848	T	-	125072848	7	5	74	1	0	1	0	1	0	0	0	0	5815	1538	54	0	3135	0	FER1L6	8	125072848	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	726289	125072848	21291174	798	51069											
ADCY8	114	broad.mit.edu	37	chr8	132052179	132052179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccgagttgctaggggcaCagtcaaggtgcaggaagccc	14	10	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:132052179C>T	uc003ytd.3	-	1	657	c.401G>A	c.(400-402)TGT>TAT	p.C134Y	ADCY8_uc010mds.2_Missense_Mutation_p.C134Y	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	134	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTAGGGGCACAGTCAAGGTG	0.607										HNSCC(32;0.087)			T	132052179	C	T	132052179	3	4	74	1	0	0	0	0	1	0	0	0	300	478	17	4	3426	4	ADCY8	8	132052179	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	6979331	132052179	14311843	799	51070											
EFR3A	23167	broad.mit.edu	37	chr8	132968153	132968153	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgttagaccagtttttgcGtaagtagttggtgttttcct	11	6	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:132968153G>A	uc003yte.2	+	7	977	c.776_splice	c.e7+1	p.A259_splice		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A							plasma membrane	binding			ovary(3)|breast(1)|central_nervous_system(1)	5	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CAGTTTTTGCGTAAGTAGTTG	0.373													A	132968153	G	A	132968153	5	1	74	1	0	0	0	0	0	0	1	0	4958	1159	40	1	803	1	EFR3A	8	132968153	Splice_Site	SNP	G	TCGA-BR-8361-01A-11D-2340-08	915974	132968153	13395869	800	51071											
PHF20L1	51105	broad.mit.edu	37	chr8	133790151	133790151	+	Frame_Shift_Del	DEL	A	A	-													ggaggcactggactacttacAaaaatggtatggaaaatata							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:133790151delA	uc003ytt.2	+	2	402	c.77delA	c.(76-78)CAAfs	p.Q26fs	PHF20L1_uc003ytr.2_Frame_Shift_Del_p.Q26fs|PHF20L1_uc010mdv.2_Frame_Shift_Del_p.Q26fs|PHF20L1_uc003yts.2_Frame_Shift_Del_p.Q26fs|PHF20L1_uc011lja.1_Frame_Shift_Del_p.Q26fs|PHF20L1_uc003ytu.1_RNA|PHF20L1_uc003ytq.2_Frame_Shift_Del_p.Q26fs	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	26	Tudor 1.						nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GACTACTTACAAAAATGGTAT	0.363													-	133790151	A	-	133790151	7	5	74	1	0	1	0	1	0	0	0	0	11832	130	5	0	79	0	PHF20L1	8	133790151	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	821998	133790151	12573871	801	51072											
TG	7038	broad.mit.edu	37	chr8	133900585	133900585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatacccttctctgcaagatGtcccactagcagcactggaa	7	13	1	1	rs115070736	by1000genomes	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:133900585G>A	uc003ytw.2	+	10	2574	c.2533G>A	c.(2533-2535)GTC>ATC	p.V845I		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	845	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCTGCAAGATGTCCCACTAGC	0.527													A	133900585	G	A	133900585	3	1	74	1	0	0	0	0	1	0	0	0	15810	1377	48	4	2571	4	TG	8	133900585	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	110434	133900585	12463437	802	51073											
TG	7038	broad.mit.edu	37	chr8	133923712	133923712	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagggagcgtttaggagtgAatgttacatggaaatcacgg	14	6	1	1	rs142264604		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:133923712A>G	uc003ytw.2	+	19	4134	c.4093A>G	c.(4093-4095)AAT>GAT	p.N1365D	TG_uc010mdw.2_Missense_Mutation_p.N124D	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1365					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTTAGGAGTGAATGTTACATG	0.443													G	133923712	A	G	133923712	3	3	74	1	0	0	0	0	1	0	0	0	15810	246	9	3	4167	3	TG	8	133923712	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	23127	133923712	12440310	803	51074											
FAM135B	51059	broad.mit.edu	37	chr8	139164495	139164495	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagagaagcctggatgccGcttggcaaacttgtgttact	13	8	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:139164495G>A	uc003yuy.2	-	13	2394	c.2223C>T	c.(2221-2223)AGC>AGT	p.S741S	FAM135B_uc003yux.2_Silent_p.S642S|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.S303S|FAM135B_uc003yvb.2_Silent_p.S303S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	741										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCTGGATGCCGCTTGGCAAAC	0.527										HNSCC(54;0.14)			A	139164495	G	A	139164495	2	1	74	1	0	0	0	0	0	0	0	1	5449	1078	38	1		1	FAM135B	8	139164495	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	5240783	139164495	7199527	804	51075											
KCNK9	51305	broad.mit.edu	37	chr8	140630920	140630920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaggttgaggaaggcccCgatgaccgtcagccccacca	12	15	1	2	rs121908332		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:140630920C>T	uc003yvf.1	-	2	770	c.706G>A	c.(706-708)GGG>AGG	p.G236R	KCNK9_uc003yvg.1_Missense_Mutation_p.G236R|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	236	Helical; (Potential).		G -> R (in BIBAS; inactive).			integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			AGGAAGGCCCCGATGACCGTC	0.597													T	140630920	C	T	140630920	3	4	74	1	0	0	0	0	1	0	0	0	8072	652	23	1	422	1	KCNK9	8	140630920	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1466425	140630920	5733102	805	51076											
DENND3	22898	broad.mit.edu	37	chr8	142176321	142176321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctaagtccaaggagacCgaccgttgagaaaagagcct	11	10	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:142176321C>T	uc003yvy.2	+	12	1624	c.1346C>T	c.(1345-1347)CCG>CTG	p.P449L	DENND3_uc010mep.2_Missense_Mutation_p.P410L|DENND3_uc003yvz.1_Missense_Mutation_p.P133L	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	449										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAAGGAGACCGACCGTTGAG	0.483													T	142176321	C	T	142176321	3	4	74	1	0	0	0	0	1	0	0	0	4432	652	23	1	1388	1	DENND3	8	142176321	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1545401	142176321	4187701	806	51077											
DENND3	22898	broad.mit.edu	37	chr8	142176445	142176445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcacccaggaactcctcGctccggctgacggacaccgc	11	18	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:142176445G>A	uc003yvy.2	+	12	1748	c.1470G>A	c.(1468-1470)TCG>TCA	p.S490S	DENND3_uc010mep.2_Silent_p.S451S|DENND3_uc003yvz.1_Silent_p.S174S	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	490										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGAACTCCTCGCTCCGGCTGA	0.657													A	142176445	G	A	142176445	2	1	74	1	0	0	0	0	0	0	0	1	4432	1074	38	1		1	DENND3	8	142176445	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	124	142176445	4187577	807	51078											
CYP11B1	1584	broad.mit.edu	37	chr8	143956560	143956560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagagtagaggaacacgCgcaccaatgtctgcggacgg	14	11	1	2	rs4998896		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:143956560C>T	uc003yxi.2	-	8	1218	c.1211G>A	c.(1210-1212)CGC>CAC	p.R404H	CYP11B1_uc010mex.2_Missense_Mutation_p.R103H|CYP11B1_uc003yxh.2_Intron|CYP11B1_uc003yxj.2_Intron|CYP11B1_uc010mey.2_Missense_Mutation_p.R475H	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	404					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GAGGAACACGCGCACCAATGT	0.647									Familial_Hyperaldosteronism_type_I				T	143956560	C	T	143956560	3	4	74	1	0	0	0	0	1	0	0	0	4145	768	27	1	308	1	CYP11B1	8	143956560	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1780115	143956560	2407462	808	51079											
PLEC	5339	broad.mit.edu	37	chr8	144998376	144998376	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaccagccccttctgccgCtccagctcgctgtccgatgc	8	20	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:144998376C>A	uc003zaf.1	-	31	6302	c.6132G>T	c.(6130-6132)GAG>GAT	p.E2044D	PLEC_uc003zab.1_Missense_Mutation_p.E1907D|PLEC_uc003zac.1_Missense_Mutation_p.E1911D|PLEC_uc003zad.2_Missense_Mutation_p.E1907D|PLEC_uc003zae.1_Missense_Mutation_p.E1875D|PLEC_uc003zag.1_Missense_Mutation_p.E1885D|PLEC_uc003zah.2_Missense_Mutation_p.E1893D|PLEC_uc003zaj.2_Missense_Mutation_p.E1934D	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2044	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCTTCTGCCGCTCCAGCTCGC	0.701													A	144998376	C	A	144998376	3	1	74	1	0	0	0	0	1	0	0	0	12052	796	28	5	7930	5	PLEC	8	144998376	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1041816	144998376	1365646	809	51080											
ADCK5	203054	broad.mit.edu	37	chr8	145617837	145617837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccatgctgctggtgctgcGcaacatcaacaccgtgcgcg	12	15	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:145617837G>A	uc003zch.2	+	13	1499	c.1445G>A	c.(1444-1446)CGC>CAC	p.R482H	ADCK5_uc003zcg.2_RNA|ADCK5_uc003zci.2_Missense_Mutation_p.R71H	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	482						integral to membrane	protein serine/threonine kinase activity			stomach(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTGGTGCTGCGCAACATCAAC	0.687													A	145617837	G	A	145617837	3	1	74	1	0	0	0	0	1	0	0	0	291	1087	38	1	1495	1	ADCK5	8	145617837	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	619461	145617837	746185	810	51081											
PPP1R16A	84988	broad.mit.edu	37	chr8	145727027	145727027	+	Frame_Shift_Del	DEL	C	C	-													gagccccctggacagcaccaCcccccacaccctggtccacg					rs139247503	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr8:145727027delC	uc003zdd.2	+	11	2241	c.1328delC	c.(1327-1329)ACCfs	p.T443fs	uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Frame_Shift_Del_p.T443fs|GPT_uc011lli.1_5'Flank|GPT_uc011llj.1_5'Flank|GPT_uc003zdh.3_5'Flank	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	443						plasma membrane	protein binding				0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GACAGCACCACCCCCCACACC	0.672													-	145727027	C	-	145727027	7	5	74	1	0	1	0	1	0	0	0	0	12365	507	18	0	1366	0	PPP1R16A	8	145727027	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	109190	145727027	636995	811	51082											
SMARCA2	6595	broad.mit.edu	37	chr9	2181665	2181665	+	Frame_Shift_Del	DEL	A	A	-													ttaggaagccagtggatttcAaaaaaataaaggtagatatt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:2181664_2181664CA>C	uc003zhc.3	+	29	4446	c.4347_4347CA>C	c.(4345-4347)ttcfs	p.F1449fs	SMARCA2_uc003zhd.3_Frame_Shift_Del_p.F1431fs|SMARCA2_uc010mha.3_Frame_Shift_Del_p.F1364fs|SMARCA2_uc011llw.2_Frame_Shift_Del_p.F135fs|SMARCA2_uc011llx.2_Frame_Shift_Del_p.F95fs|SMARCA2_uc003zhe.3_Frame_Shift_Del_p.F137fs|SMARCA2_uc010mhb.3_Frame_Shift_Del_p.F119fs	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	1449	Bromo.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CAGTGGATTTCAAAAAAATAA	0.363													-	2181665	A	-	2181665	7	5	74	1	0	1	0	1	0	0	0	0	14769	131	5	0	4462	0	SMARCA2	9	2181665	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08		2181665	139031766	812	51083											
KIAA0020	9933	broad.mit.edu	37	chr9	2838446	2838446	+	Frame_Shift_Del	DEL	T	T	-													cactatttttatgaaatctgTttttttcttgtgctgtcttt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:2838445_2838445GT>G	uc003zhp.1	-	1	159	c.63_63AC>C	c.(61-63)aacfs	p.N21fs	KIAA0020_uc003zhq.1_Frame_Shift_Del_p.N21fs	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	21						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TATGAAATCTGTTTTTTTCTT	0.373													-	2838446	T	-	2838446	7	5	74	1	0	1	0	1	0	0	0	0	8152	1725	60	0	1952	0	KIAA0020	9	2838446	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	656781	2838446	138374985	813	51084											
PPAPDC2	403313	broad.mit.edu	37	chr9	4662506	4662506	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtttgagttccagtccctgcTcagcagccgcgccacggccg	12	16	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:4662506T>A	uc003zin.2	+	1	209	c.131T>A	c.(130-132)CTC>CAC	p.L44H	C9orf68_uc003zik.2_Intron|C9orf68_uc003zil.2_Intron|C9orf68_uc010mhj.2_Intron|C9orf68_uc011lly.1_Intron|C9orf68_uc011llz.1_Intron|C9orf68_uc003zim.2_Intron	NM_203453	NP_982278	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain	44						integral to membrane	hydrolase activity				0	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		CAGTCCCTGCTCAGCAGCCGC	0.761											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	4662506	T	A	4662506	3	1	74	1	0	0	0	0	1	0	0	0	12295	1551	54	5	133	5	PPAPDC2	9	4662506	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	1824060	4662506	136550925	814	51085											
CNTLN	54875	broad.mit.edu	37	chr9	17464503	17464503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttttttcaaggatatctcGaatggagagggatataacta	9	4	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:17464503G>A	uc003zmz.2	+	21	3436	c.3410G>A	c.(3409-3411)CGA>CAA	p.R1137Q	CNTLN_uc003zmy.2_Missense_Mutation_p.R1138Q|CNTLN_uc010mio.2_Missense_Mutation_p.R817Q	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1138	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		AGGATATCTCGAATGGAGAGG	0.303													A	17464503	G	A	17464503	3	1	74	1	0	0	0	0	1	0	0	0	3639	1058	37	1	3525	1	CNTLN	9	17464503	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	12801997	17464503	123748928	815	51086											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18680350	18680351	+	Frame_Shift_Ins	INS	-	-	G													cgcgtgctcctcctcgtgtgINSgggggggcatccagagccgg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:18680349_18680350T>TG	uc003zne.4	+	10	1328_1329	c.1176_1177T>TG	c.(1174-1179)tgtgggfs	p.C392fs	ADAMTSL1_uc003znb.3_Frame_Shift_Ins_p.C375fs|ADAMTSL1_uc003znc.4_Frame_Shift_Ins_p.C392fs	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	392	TSP type-1 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTCCTCGTGTGGGGGGGGCAT	0.584													G	18680351	-	G	18680350	7	5	74	1	0	1	1	0	0	0	0	0	274	1348	47	0	1219	0	ADAMTSL1	9	18680350	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1215847	18680350	122533081	816	51087											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18777073	18777073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgtctacacctgctcagCgggcccggcccgggagcact	14	16	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:18777073C>T	uc003zne.3	+	19	2973	c.2846C>T	c.(2845-2847)GCG>GTG	p.A949V		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	949	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		ACCTGCTCAGCGGGCCCGGCC	0.642													T	18777073	C	T	18777073	3	4	74	1	0	0	0	0	1	0	0	0	274	768	27	1	2924	1	ADAMTSL1	9	18777073	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	96723	18777073	122436358	817	51088											
ACER2	340485	broad.mit.edu	37	chr9	19423933	19423933	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtatgcaacatgcttcaAcagtggcatctacttaatct	6	10	4	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:19423933A>G	uc003zny.1	+	2	340	c.182A>G	c.(181-183)AAC>AGC	p.N61S	ACER2_uc003znx.1_RNA|ACER2_uc003znz.1_Missense_Mutation_p.N12S	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	61	Cytoplasmic (Potential).				ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						ACATGCTTCAACAGTGGCATC	0.428													G	19423933	A	G	19423933	3	3	74	1	0	0	0	0	1	0	0	0	139	43	2	3	188	3	ACER2	9	19423933	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	646860	19423933	121789498	818	51089											
MLLT3	4300	broad.mit.edu	37	chr9	20414337	20414337	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctgctgctGctgctactgctgctgctgct	12	14	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:20414337G>A	uc003zoe.2	-	5	766	c.507C>T	c.(505-507)AGC>AGT	p.S169S	MLLT3_uc011lne.1_Silent_p.S137S|MLLT3_uc011lnf.1_Silent_p.S166S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.A131V	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	169	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctgctactgc	0.149			T	MLL	ALL								A	20414337	G	A	20414337	2	1	74	1	0	0	0	0	0	0	0	1	9628	1310	46	2		2	MLLT3	9	20414337	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	990404	20414337	120799094	819	51090											
KIAA1797	54914	broad.mit.edu	37	chr9	20866997	20866997	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggagaacacaccattcttCatctgcctgaaaaggtaggc	9	11	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:20866997C>T	uc003zog.1	+	20	2539	c.2176C>T	c.(2176-2178)CAT>TAT	p.H726Y	KIAA1797_uc003zoh.1_Missense_Mutation_p.H162Y	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	726						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		CACCATTCTTCATCTGCCTGA	0.373													T	20866997	C	T	20866997	3	4	74	1	0	0	0	0	1	0	0	0	8258	826	29	4	2242	4	KIAA1797	9	20866997	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	452660	20866997	120346434	820	51091											
KIAA1797	54914	broad.mit.edu	37	chr9	20912931	20912931	+	Frame_Shift_Del	DEL	A	A	-													aacctgaggaggtgcagtacAaaaaaagcacagcctggctc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:20912931delA	uc003zog.1	+	25	3148	c.2785delA	c.(2785-2787)AAAfs	p.K929fs	KIAA1797_uc003zoh.1_Frame_Shift_Del_p.K365fs	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	929						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		GGTGCAGTACAAAAAAAGCAC	0.438													-	20912931	A	-	20912931	7	5	74	1	0	1	0	1	0	0	0	0	8258	131	5	0	2871	0	KIAA1797	9	20912931	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	45934	20912931	120300500	821	51092											
KIAA1797	54914	broad.mit.edu	37	chr9	20986390	20986390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgttgctgtgcagcaccGtgagaaagaggtgttggcct	16	8	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:20986390G>A	uc003zog.1	+	42	5195	c.4832G>A	c.(4831-4833)CGT>CAT	p.R1611H	KIAA1797_uc003zoh.1_Missense_Mutation_p.R1047H	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	1611						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		GTGCAGCACCGTGAGAAAGAG	0.507													A	20986390	G	A	20986390	3	1	74	1	0	0	0	0	1	0	0	0	8258	1145	40	1	4986	1	KIAA1797	9	20986390	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	73459	20986390	120227041	822	51093											
IFNA6	3443	broad.mit.edu	37	chr9	21350366	21350366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtttcttgatgaagagaagGatctcatgatttctgctctg	10	6	4	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:21350366G>A	uc011lni.1	-	1	521	c.521C>T	c.(520-522)TCC>TTC	p.S174F		NM_021002	NP_066282	P05013	IFNA6_HUMAN	interferon, alpha 6 precursor	174					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGAAGAGAAGGATCTCATGAT	0.448													A	21350366	G	A	21350366	3	1	74	1	0	0	0	0	1	0	0	0	7541	1174	41	4	50	4	IFNA6	9	21350366	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	363976	21350366	119863065	823	51094											
IFNA6	3443	broad.mit.edu	37	chr9	21350769	21350769	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcctcatttgtgccaggaGcatcatggtcctcctgtgac	9	13	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:21350769G>T	uc011lni.1	-	1	118	c.118C>A	c.(118-120)CTC>ATC	p.L40I		NM_021002	NP_066282	P05013	IFNA6_HUMAN	interferon, alpha 6 precursor	40					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGTGCCAGGAGCATCATGGTC	0.522													T	21350769	G	T	21350769	3	4	74	1	0	0	0	0	1	0	0	0	7541	971	34	5	453	5	IFNA6	9	21350769	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	403	21350769	119862662	824	51095											
ELAVL2	1993	broad.mit.edu	37	chr9	23705056	23705056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatagaagctgaacttgggCgagcataggaaacctggaaa	13	6	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:23705056C>T	uc003zpu.2	-	4	622	c.347G>A	c.(346-348)CGC>CAC	p.R116H	ELAVL2_uc003zps.2_Missense_Mutation_p.R116H|ELAVL2_uc003zpt.2_Missense_Mutation_p.R116H|ELAVL2_uc003zpv.2_Missense_Mutation_p.R116H|ELAVL2_uc003zpw.2_Missense_Mutation_p.R116H	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	116	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TGAACTTGGGCGAGCATAGGA	0.398													T	23705056	C	T	23705056	3	4	74	1	0	0	0	0	1	0	0	0	5050	768	27	1	748	1	ELAVL2	9	23705056	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2354287	23705056	117508375	825	51096											
UBAP2	55833	broad.mit.edu	37	chr9	33944640	33944640	+	Splice_Site	DEL	A	A	-													caggttgagatttgaagtctAaaaaaagtaagcagcaatta							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:33944639_33944639TA>T	uc003ztq.1	-	14	1384	c.1271_splice	c.e14-1	p.D424_splice	UBAP2_uc011loc.1_Splice_Site_p.D333_splice|UBAP2_uc011lod.1_Splice_Site_p.D157_splice|UBAP2_uc011loe.1_Splice_Site_p.D179_splice|UBAP2_uc011lof.1_Splice_Site_p.D349_splice|UBAP2_uc011log.1_Splice_Site_p.D370_splice|UBAP2_uc003ztr.2_Splice_Site_p.D296_splice|UBAP2_uc003zts.3_Splice_Site_p.D57_splice	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	424										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ATTTGAAGTCTAAAAAAAGTA	0.438													-	33944640	A	-	33944640	8	5	74	1	0	1	0	1	0	0	1	0	16834	377	13	0		0	UBAP2	9	33944640	Splice_Site	DEL	A	TCGA-BR-8361-01A-11D-2340-08	10239584	33944640	107268791	826	51097											
DNAJB5	25822	broad.mit.edu	37	chr9	34996396	34996396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatcttctttgccagcagcCgctccactcggcccttcagt	7	16	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:34996396C>T	uc003zvt.2	+	3	484	c.346C>T	c.(346-348)CGC>TGC	p.R116C	DNAJB5_uc003zvs.2_Missense_Mutation_p.R150C|DNAJB5_uc011los.1_Missense_Mutation_p.R188C	NM_012266	NP_036398	O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	116					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding				0			LUSC - Lung squamous cell carcinoma(32;0.00575)			TGCCAGCAGCCGCTCCACTCG	0.552													T	34996396	C	T	34996396	3	4	74	1	0	0	0	0	1	0	0	0	4623	652	23	1	572	1	DNAJB5	9	34996396	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1051756	34996396	106217035	827	51098											
UNC13B	10497	broad.mit.edu	37	chr9	35403977	35403977	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcaatgacgaggtggccCgagaatttgtgaaactcaaa	13	7	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:35403977C>T	uc003zwq.2	+	39	5015	c.4723C>T	c.(4723-4725)CGA>TGA	p.R1575*	UNC13B_uc003zwr.2_Nonsense_Mutation_p.R1594*|ATP8B5P_uc010mkn.1_5'Flank|ATP8B5P_uc010mko.2_5'Flank|ATP8B5P_uc010mkp.2_5'Flank|ATP8B5P_uc003zwu.2_5'Flank	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	1575					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CGAGGTGGCCCGAGAATTTGT	0.532													T	35403977	C	T	35403977	4	4	74	1	0	0	0	0	0	1	0	0	16982	644	23	1	4877	1	UNC13B	9	35403977	Nonsense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	407581	35403977	105809454	828	51099											
RUSC2	9853	broad.mit.edu	37	chr9	35547974	35547974	+	Frame_Shift_Del	DEL	C	C	-													aagtatacacgaatacttcaCcccccaacctcagcactgga							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:35547973_35547973AC>A	uc003zww.3	+	1	1710	c.1455_1455AC>A	c.(1453-1455)tcafs	p.S485fs	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Frame_Shift_Del_p.S485fs	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	485						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CGAATACTTCACCCCCCAACC	0.597													-	35547974	C	-	35547974	7	5	74	1	0	1	0	1	0	0	0	0	13751	507	18	0	1458	0	RUSC2	9	35547974	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	143997	35547974	105665457	829	51100											
TLN1	7094	broad.mit.edu	37	chr9	35708384	35708384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaactctggcaggccatcTgaattgcctggtttgcacgg	11	12	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:35708384T>C	uc003zxt.2	-	34	4778	c.4424A>G	c.(4423-4425)CAG>CGG	p.Q1475R		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1475	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCAGGCCATCTGAATTGCCTG	0.592													C	35708384	T	C	35708384	3	2	74	1	0	0	0	0	1	0	0	0	15944	1580	55	3	3297	3	TLN1	9	35708384	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	160410	35708384	105505047	830	51101											
PGM5	5239	broad.mit.edu	37	chr9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattattggacagaatggcAtcttgtcgacacctgcggtc	11	9	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478													G	70993145	A	G	70993145	3	3	74	1	0	0	0	0	1	0	0	0	11801	217	8	3	298	3	PGM5	9	70993145	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	35284761	70993145	70220286	831	51102											
PIP5K1B	8395	broad.mit.edu	37	chr9	71606165	71606165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatgcttctgtgcttgacGtctatttagtaagtaatttt	7	6	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:71606165G>A	uc004agu.2	+	15	1917	c.1612G>A	c.(1612-1614)GTC>ATC	p.V538I	PIP5K1B_uc011lrq.1_Intron|PIP5K1B_uc004agv.2_RNA	NM_003558	NP_003549	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	538						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			stomach(1)	1				Lung(182;0.133)		TGTGCTTGACGTCTATTTAGT	0.438													A	71606165	G	A	71606165	3	1	74	1	0	0	0	0	1	0	0	0	11940	1145	40	1	1658	1	PIP5K1B	9	71606165	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	613020	71606165	69607266	832	51103											
APBA1	320	broad.mit.edu	37	chr9	72067044	72067045	+	Frame_Shift_Del	DEL	AC	AC	-													aggtaagtacccacatctttAcagttttccgacttggagaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:72067043_72067044TAC>T	uc004ahh.2	-	8	2238_2239	c.1962_1963GTA>A	c.(1960-1965)tgtaaafs	p.C654fs		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	654					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CCCACATCTTTACAGTTTTCCG	0.525													-	72067045	AC	-	72067044	7	5	74	1	0	1	0	1	0	0	0	0	756	389	14	0	571	0	APBA1	9	72067044	Frame_Shift_Del	DEL	AC	TCGA-BR-8361-01A-11D-2340-08	460879	72067044	69146387	833	51104											
TMEM2	23670	broad.mit.edu	37	chr9	74312964	74312964	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatccgcttgaccactgaCggctttctgtagtactgtgg	12	11	1	2	rs142314012	by1000genomes	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:74312964C>T	uc011lsa.1	-	20	4074	c.3534G>A	c.(3532-3534)CCG>CCA	p.P1178P	TMEM2_uc011lrz.1_Silent_p.P171P|TMEM2_uc010mos.2_Silent_p.P1115P|TMEM2_uc011lsb.1_RNA|TMEM2_uc004aik.2_Silent_p.P12P	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	1178						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGACCACTGACGGCTTTCTGT	0.522													T	74312964	C	T	74312964	2	4	74	1	0	0	0	0	0	0	0	1	16118	523	19	1		1	TMEM2	9	74312964	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2245920	74312964	66900467	834	51105											
TRPM6	140803	broad.mit.edu	37	chr9	77415270	77415270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaagggtcgtaatcctcccGacacggccagtttaaggcag	11	12	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:77415270G>A	uc004ajl.1	-	17	2376	c.2138C>T	c.(2137-2139)TCG>TTG	p.S713L	TRPM6_uc004ajk.1_Missense_Mutation_p.S708L|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.S91L	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	713	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						TAATCCTCCCGACACGGCCAG	0.483													A	77415270	G	A	77415270	3	1	74	1	0	0	0	0	1	0	0	0	16587	1059	37	1	4022	1	TRPM6	9	77415270	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	3102306	77415270	63798161	835	51106											
VPS13A	23230	broad.mit.edu	37	chr9	79930197	79930198	+	Frame_Shift_Ins	INS	-	-	A													actgacagttggttttgacaINSaaaaagacatgatggatata							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:79930196_79930197C>CA	uc004akr.3	+	37	4700_4701	c.4440_4441C>CA	c.(4438-4443)gacaaafs	p.D1480fs	VPS13A_uc004akp.4_Frame_Shift_Ins_p.D1480fs|VPS13A_uc004akq.4_Frame_Shift_Ins_p.D1480fs|VPS13A_uc004aks.3_Frame_Shift_Ins_p.D1441fs|VPS13A_uc004akt.3_5'Flank|VPS13A_uc010mpo.1_Frame_Shift_Ins_p.D76fs	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1480					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTGGTTTTGACAAAAAAGACAT	0.337													A	79930198	-	A	79930197	7	5	74	1	0	1	1	0	0	0	0	0	17186	131	5	0	4591	0	VPS13A	9	79930197	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	2514927	79930197	61283234	836	51107											
VPS13A	23230	broad.mit.edu	37	chr9	79931169	79931169	+	Frame_Shift_Del	DEL	A	A	-													gtgtttgtagctgacatgacAaaaaatgatgctcctgcttt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:79931169delA	uc004akr.2	+	39	4970	c.4710delA	c.(4708-4710)ACAfs	p.T1570fs	VPS13A_uc004akp.3_Frame_Shift_Del_p.T1570fs|VPS13A_uc004akq.3_Frame_Shift_Del_p.T1570fs|VPS13A_uc004aks.2_Frame_Shift_Del_p.T1531fs|VPS13A_uc004akt.2_5'Flank|VPS13A_uc010mpo.1_Frame_Shift_Del_p.T166fs	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	1570					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						CTGACATGACAAAAAATGATG	0.308													-	79931169	A	-	79931169	7	5	74	1	0	1	0	1	0	0	0	0	17186	117	5	0	4864	0	VPS13A	9	79931169	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	972	79931169	61282262	837	51108											
KIF27	55582	broad.mit.edu	37	chr9	86495258	86495258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactgcatccagttgcttcCttttttcattttcttctcgt	4	11	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:86495258C>T	uc004ana.2	-	11	2741	c.2597G>A	c.(2596-2598)AGG>AAG	p.R866K	KIF27_uc010mpw.2_Intron|KIF27_uc010mpx.2_Missense_Mutation_p.R866K	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	866	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						CAGTTGCTTCCTTTTTTCATT	0.348													T	86495258	C	T	86495258	3	4	74	1	0	0	0	0	1	0	0	0	8296	681	24	4	1640	4	KIF27	9	86495258	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	6564089	86495258	54718173	838	51109											
NAA35	60560	broad.mit.edu	37	chr9	88624836	88624836	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcgactcctttgttactcActgtgttcgggtaagagcta	9	9	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:88624836A>C	uc004aoi.3	+	15	1417	c.1280A>C	c.(1279-1281)CAC>CCC	p.H427P	NAA35_uc004aoj.3_Missense_Mutation_p.H427P	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	corneal wound healing-related protein	427					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				skin(2)|central_nervous_system(1)	3						TTTGTTACTCACTGTGTTCGG	0.318													C	88624836	A	C	88624836	3	2	74	1	0	0	0	0	1	0	0	0	10123	159	6	5	1334	5	NAA35	9	88624836	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	2129578	88624836	52588595	839	51110											
SYK	6850	broad.mit.edu	37	chr9	93607823	93607823	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccatggaaaaatctctcgGgaagaatctgagcaaattgt	9	7	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:93607823G>T	uc004aqz.2	+	3	730	c.525G>T	c.(523-525)CGG>CGT	p.R175R	SYK_uc004aqy.2_Silent_p.R175R|SYK_uc004ara.2_Silent_p.R175R|SYK_uc004arb.2_Silent_p.R175R|SYK_uc004arc.2_Silent_p.R175R|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	175	SH2 2.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						AAATCTCTCGGGAAGAATCTG	0.507			T	ETV6|ITK	MDS|peripheral T-cell lymphoma								T	93607823	G	T	93607823	2	4	74	1	0	0	0	0	0	0	0	1	15435	1219	43	5		5	SYK	9	93607823	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	4982987	93607823	47605608	840	51111											
FBP2	8789	broad.mit.edu	37	chr9	97325689	97325689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatagaccagggtgcggtGcacgtcagccaccatggagc	13	13	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:97325689G>A	uc004auv.2	-	6	827	c.760C>T	c.(760-762)CAC>TAC	p.H254Y	uc004aus.1_Intron|uc004aut.1_Intron|uc004auu.2_Intron	NM_003837	NP_003828	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	254					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding				0		Acute lymphoblastic leukemia(62;0.136)				AGGGTGCGGTGCACGTCAGCC	0.557													A	97325689	G	A	97325689	3	1	74	1	0	0	0	0	1	0	0	0	5706	1319	46	2	267	2	FBP2	9	97325689	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	3717866	97325689	43887742	841	51112											
C9orf102	375748	broad.mit.edu	37	chr9	98678529	98678529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtgccaggccttttagGgagtgggacctacttcaaga	14	9	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:98678529G>A	uc004avt.3	+	6	1392	c.1004G>A	c.(1003-1005)GGG>GAG	p.G335E	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Missense_Mutation_p.G37E|C9orf102_uc010mry.1_Missense_Mutation_p.G37E|C9orf102_uc010mrz.2_Missense_Mutation_p.G146E	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	335					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				GGCCTTTTAGGGAGTGGGACC	0.423													A	98678529	G	A	98678529	3	1	74	1	0	0	0	0	1	0	0	0	2445	1232	43	4	1026	4	C9orf102	9	98678529	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1352840	98678529	42534902	842	51113											
ZNF367	195828	broad.mit.edu	37	chr9	99150630	99150630	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcccctctcttctcgtcGtcctcttcatcagactgaag	8	15	5	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:99150630G>A	uc004awf.2	-	5	1297	c.942C>T	c.(940-942)GAC>GAT	p.D314D		NM_153695	NP_710162	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	314	Potential.				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0167)				TCTTCTCGTCGTCCTCTTCAT	0.622													A	99150630	G	A	99150630	2	1	74	1	0	0	0	0	0	0	0	1	17868	1136	40	1		1	ZNF367	9	99150630	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	472101	99150630	42062801	843	51114											
GABBR2	9568	broad.mit.edu	37	chr9	101125082	101125082	+	Frame_Shift_Del	DEL	C	C	-													acaggtcgatcagcagcatgCcccccacgatcacaagcagt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:101125082delC	uc004ays.2	-	13	1964	c.1808delG	c.(1807-1809)GGCfs	p.G603fs		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	603	Helical; Name=4; (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CAGCAGCATGCCCCCCACGAT	0.582													-	101125082	C	-	101125082	7	5	74	1	0	1	0	1	0	0	0	0	6156	739	26	0	1045	0	GABBR2	9	101125082	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	1974452	101125082	40088349	844	51115											
GABBR2	9568	broad.mit.edu	37	chr9	101151210	101151210	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgaggatggtgagggcagaGaggatgctgtagagaggtag	20	4	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:101151210G>T	uc004ays.2	-	10	1611	c.1455C>A	c.(1453-1455)CTC>CTA	p.L485L		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	485	Helical; Name=1; (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TGAGGGCAGAGAGGATGCTGT	0.512													T	101151210	G	T	101151210	2	4	74	1	0	0	0	0	0	0	0	1	6156	929	33	5		5	GABBR2	9	101151210	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	26128	101151210	40062221	845	51116											
GABBR2	9568	broad.mit.edu	37	chr9	101304265	101304265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attgtctgatgggacggtccGaaagaaataagggtattttt	12	4	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:101304265G>A	uc004ays.2	-	3	676	c.520C>T	c.(520-522)CGG>TGG	p.R174W		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	174	Extracellular (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GGGACGGTCCGAAAGAAATAA	0.478													A	101304265	G	A	101304265	3	1	74	1	0	0	0	0	1	0	0	0	6156	1057	37	1	2373	1	GABBR2	9	101304265	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	153055	101304265	39909166	846	51117											
GABBR2	9568	broad.mit.edu	37	chr9	101304280	101304281	+	Frame_Shift_Ins	INS	-	-	T													gtccgaaagaaataagggtaINSttttttcttatcggctagaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:101304280_101304281insT	uc004ays.2	-	3	660_661	c.504_505insA	c.(502-507)AAATACfs	p.K168fs		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	168_169	Extracellular (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AAATAAGGGTATTTTTTCTTAT	0.485													T	101304281	-	T	101304280	7	5	74	1	0	1	1	0	0	0	0	0	6156	449	16	0	2388	0	GABBR2	9	101304280	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	15	101304280	39909151	847	51118	208	2									
GABBR2	9568	broad.mit.edu	37	chr9	101304281	101304282	+	Frame_Shift_Ins	INS	-	-	T													tccgaaagaaataagggtatINStttttcttatcggctagaac							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:101304280_101304281A>AT	uc004ays.3	-	2	964_965	c.504_505T>AT	c.(502-507)aaatacfs	p.K168fs		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	168					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AAATAAGGGTATTTTTTCTTAT	0.485													T	101304282	-	T	101304281	7	5	74	1	0	1	1	0	0	0	0	0	6156	1490	52	0	2389	0	GABBR2	9	101304281	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1	101304281	39909150	848	51119	208	2									
ANKS6	203286	broad.mit.edu	37	chr9	101542559	101542559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaggctggtggctcggcCggcctttgtctttattcacc	15	11	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:101542559C>T	uc004ayu.2	-	6	1301	c.1280G>A	c.(1279-1281)CGG>CAG	p.R427Q	ANKS6_uc004ayt.2_Missense_Mutation_p.R126Q|ANKS6_uc004ayv.1_5'Flank|ANKS6_uc004ayw.1_Missense_Mutation_p.R9Q|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	427										ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				GTGGCTCGGCCGGCCTTTGTC	0.547													T	101542559	C	T	101542559	3	4	74	1	0	0	0	0	1	0	0	0	692	652	23	1	1375	1	ANKS6	9	101542559	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	238278	101542559	39670872	849	51120											
MRPL50	54534	broad.mit.edu	37	chr9	104152754	104152754	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcttccgaattgcttagtaActccaagtgattttcaaatt	5	9	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:104152754A>T	uc004bbe.2	-	2	516	c.471T>A	c.(469-471)AGT>AGA	p.S157R	MRPL50_uc011lvj.1_Intron	NM_019051	NP_061924	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	157						mitochondrion|ribosome					0		Acute lymphoblastic leukemia(62;0.0559)				TTGCTTAGTAACTCCAAGTGA	0.378													T	104152754	A	T	104152754	3	4	74	1	0	0	0	0	1	0	0	0	9814	40	2	5	9	5	MRPL50	9	104152754	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	2610195	104152754	37060677	850	51121											
GRIN3A	116443	broad.mit.edu	37	chr9	104390559	104390559	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcagatactccactccatcaGgggtggctggaacattgtac	10	11	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:104390559G>C	uc004bbp.1	-	4	3078	c.2477C>G	c.(2476-2478)CCT>CGT	p.P826R	GRIN3A_uc004bbq.1_Missense_Mutation_p.P826R	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	826	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CACTCCATCAGGGGTGGCTGG	0.423													C	104390559	G	C	104390559	3	2	74	1	0	0	0	0	1	0	0	0	6783	1000	35	5	894	5	GRIN3A	9	104390559	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	237805	104390559	36822872	851	51122											
GRIN3A	116443	broad.mit.edu	37	chr9	104449065	104449065	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttccatgagcaatgagccCtaagggcagaccctctgtcc	9	13	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:104449065C>A	uc004bbp.1	-	2	1718	c.1117G>T	c.(1117-1119)GGG>TGG	p.G373W	GRIN3A_uc004bbq.1_Missense_Mutation_p.G373W	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	373	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GCAATGAGCCCTAAGGGCAGA	0.517													A	104449065	C	A	104449065	3	1	74	1	0	0	0	0	1	0	0	0	6783	681	24	5	2262	5	GRIN3A	9	104449065	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	58506	104449065	36764366	852	51123											
SMC2	10592	broad.mit.edu	37	chr9	106875619	106875619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagatgaagttgaagcatgCtcaacaggaattaaagaata	9	5	2	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:106875619C>T	uc004bbv.2	+	11	1565	c.1277C>T	c.(1276-1278)GCT>GTT	p.A426V	SMC2_uc004bbu.1_Missense_Mutation_p.A426V|SMC2_uc004bbw.2_Missense_Mutation_p.A426V|SMC2_uc011lvl.1_Missense_Mutation_p.A426V|SMC2_uc010mth.1_Missense_Mutation_p.A376V|SMC2_uc004bbx.2_Missense_Mutation_p.A426V	NM_001042551	NP_001036016	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	426	Potential.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						TTGAAGCATGCTCAACAGGAA	0.393													T	106875619	C	T	106875619	3	4	74	1	0	0	0	0	1	0	0	0	14783	797	28	2	1315	2	SMC2	9	106875619	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2426554	106875619	34337812	853	51124											
ZNF462	58499	broad.mit.edu	37	chr9	109691637	109691637	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtctatgcagatgagcAtgagaagcccacactgatgg	13	10	1	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:109691637A>G	uc004bcz.2	+	3	5733	c.5444A>G	c.(5443-5445)CAT>CGT	p.H1815R	ZNF462_uc010mto.2_Missense_Mutation_p.H1663R|ZNF462_uc004bda.2_Missense_Mutation_p.H1663R	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1815					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						GCAGATGAGCATGAGAAGCCC	0.557													G	109691637	A	G	109691637	3	3	74	1	0	0	0	0	1	0	0	0	17923	217	8	3	5450	3	ZNF462	9	109691637	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	2816018	109691637	31521794	854	51125											
KIAA0368	23392	broad.mit.edu	37	chr9	114246732	114246732	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcctcccgccgaacttctcGgccccggcgctgactcagtc	10	20	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:114246732G>C	uc004bfe.1	-	2	181	c.181C>G	c.(181-183)CGA>GGA	p.R61G	KIAA0368_uc010muc.1_5'Flank	NM_001080398	NP_001073867			KIAA0368 protein												0						CGAACTTCTCGGCCCCGGCGC	0.687													C	114246732	G	C	114246732	3	2	74	1	0	0	0	0	1	0	0	0	8171	1124	39	5	6072	5	KIAA0368	9	114246732	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	4555095	114246732	26966699	855	51126											
SUSD1	64420	broad.mit.edu	37	chr9	114905861	114905861	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgagtgttcacgcatcgcCctccatgcctgcacaggcca	9	16	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:114905861C>A	uc004bfu.2	-	4	457	c.416G>T	c.(415-417)GGG>GTG	p.G139V	SUSD1_uc010mui.2_Missense_Mutation_p.G139V|SUSD1_uc010muj.2_Missense_Mutation_p.G139V	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1 precursor	139	EGF-like 3; calcium-binding (Potential).|Extracellular (Potential).					integral to membrane	calcium ion binding				0						CACGCATCGCCCTCCATGCCT	0.413													A	114905861	C	A	114905861	3	1	74	1	0	0	0	0	1	0	0	0	15404	623	22	5	1883	5	SUSD1	9	114905861	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	659129	114905861	26307570	856	51127											
SLC46A2	57864	broad.mit.edu	37	chr9	115652937	115652937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaggcaggtggcccctccGcgggcaggtgacctcggggc	19	14	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:115652937G>A	uc004bgk.2	-	1	257	c.25C>T	c.(25-27)CGG>TGG	p.R9W		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	9	Cytoplasmic (Potential).					integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)	1						TGGCCCCTCCGCGGGCAGGTG	0.647													A	115652937	G	A	115652937	3	1	74	1	0	0	0	0	1	0	0	0	14645	1086	38	1	1418	1	SLC46A2	9	115652937	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	747076	115652937	25560494	857	51128											
RGS3	5998	broad.mit.edu	37	chr9	116346500	116346500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactgcgtgtgcagaactcGctgcggcgccggacgcacag	14	14	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:116346500G>A	uc004bhq.2	+	21	3017	c.2808G>A	c.(2806-2808)TCG>TCA	p.S936S	RGS3_uc004bhs.2_Silent_p.S826S|RGS3_uc004bht.2_Silent_p.S655S|RGS3_uc010muy.2_Intron|RGS3_uc004bhv.2_Silent_p.S257S|RGS3_uc010muz.1_Silent_p.S275S|RGS3_uc004bhw.2_Intron|RGS3_uc011lxh.1_Silent_p.S246S|RGS3_uc004bhx.2_Silent_p.S257S|RGS3_uc004bhy.1_Silent_p.S246S|RGS3_uc004bhz.2_Silent_p.S278S	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	936					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						TGCAGAACTCGCTGCGGCGCC	0.682													A	116346500	G	A	116346500	2	1	74	1	0	0	0	0	0	0	0	1	13306	1074	38	1		1	RGS3	9	116346500	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	693563	116346500	24866931	858	51129											
COL27A1	85301	broad.mit.edu	37	chr9	116930829	116930829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagctgtcagccagtaacGcacttgatcccatgctccca	7	16	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:116930829G>A	uc011lxl.1	+	3	994	c.994G>A	c.(994-996)GCA>ACA	p.A332T	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.A182T	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	332	Pro-rich.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						AGCCAGTAACGCACTTGATCC	0.612													A	116930829	G	A	116930829	3	1	74	1	0	0	0	0	1	0	0	0	3685	1087	38	1	1004	1	COL27A1	9	116930829	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	584329	116930829	24282602	859	51130											
COL27A1	85301	broad.mit.edu	37	chr9	116931439	116931439	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctcccactggaagcaagaAgcccattggatcggaagcct	11	12	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:116931439A>G	uc011lxl.1	+	3	1604	c.1604A>G	c.(1603-1605)AAG>AGG	p.K535R	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.K385R	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	535	Pro-rich.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						GGAAGCAAGAAGCCCATTGGA	0.637													G	116931439	A	G	116931439	3	3	74	1	0	0	0	0	1	0	0	0	3685	72	3	3	1614	3	COL27A1	9	116931439	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	610	116931439	24281992	860	51131											
TNC	3371	broad.mit.edu	37	chr9	117848533	117848533	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgatcccggcagtcttcccCtgtgtagccgtcatcacaaa	9	15	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:117848533C>A	uc004bjj.3	-	3	1839	c.1477G>T	c.(1477-1479)GGG>TGG	p.G493W	TNC_uc010mvf.2_Missense_Mutation_p.G493W	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	493	EGF-like 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CAGTCTTCCCCTGTGTAGCCG	0.597													A	117848533	C	A	117848533	3	1	74	1	0	0	0	0	1	0	0	0	16267	681	24	5	5232	5	TNC	9	117848533	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	917094	117848533	23364898	861	51132											
DBC1	1620	broad.mit.edu	37	chr9	121929994	121929994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtccaggctgctgttgcGcatctggcagatgcgcatgg	17	10	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:121929994G>A	uc004bkc.2	-	8	2110	c.1654C>T	c.(1654-1656)CGC>TGC	p.R552C		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	552					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						CTGCTGTTGCGCATCTGGCAG	0.567													A	121929994	G	A	121929994	3	1	74	1	0	0	0	0	1	0	0	0	4247	1087	38	1	635	1	DBC1	9	121929994	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	4081461	121929994	19283437	862	51133											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123202115	123202115	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctgactgatcagtccccAtcacactgactttagcagaa	6	13	3	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:123202115A>G	uc004bkf.2	-	24	3465	c.3284T>C	c.(3283-3285)ATG>ACG	p.M1095T	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.M104T|CDK5RAP2_uc004bke.2_Missense_Mutation_p.M380T|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.M1095T|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.M360T|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.M360T|CDK5RAP2_uc011lya.1_Missense_Mutation_p.M360T|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.M865T|CDK5RAP2_uc004bki.2_Missense_Mutation_p.M862T	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1095	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						ATCAGTCCCCATCACACTGAC	0.423													G	123202115	A	G	123202115	3	3	74	1	0	0	0	0	1	0	0	0	3146	217	8	3	2457	3	CDK5RAP2	9	123202115	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1272121	123202115	18011316	863	51134											
RAB14	51552	broad.mit.edu	37	chr9	123952938	123952938	+	Frame_Shift_Del	DEL	T	T	-													atcccaaatctgcagttttaTtttttggccactaacttcga							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:123952937_123952937AT>A	uc004blc.3	-	3	635	c.179_179AT>T	c.(178-180)atafs	p.I60fs		NM_016322	NP_057406	P61106	RAB14_HUMAN	Homo sapiens RAB14, member RAS oncogene family (RAB14), mRNA.	60					Golgi to endosome transport|embryo development|fibroblast growth factor receptor signaling pathway|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	Golgi membrane|Golgi stack|cytosol|early endosome membrane|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CTGCAGTTTTATTTTTTGGCC	0.428													-	123952938	T	-	123952938	7	5	74	1	0	1	0	1	0	0	0	0	12900	1493	52	0	489	0	RAB14	9	123952938	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	750823	123952938	17260493	864	51135											
RABGAP1	23637	broad.mit.edu	37	chr9	125861042	125861043	+	Frame_Shift_Del	DEL	AA	AA	-													acaaggcagaatctgagattAaaaaaaacagttctatcatt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:125861041_125861042TAA>T	uc011lzh.2	+	22	2915_2916	c.2781_2782TAA>T	c.(2779-2784)attaaafs	p.I927fs	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Frame_Shift_Del_p.I266fs	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	927					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AATCTGAGATTAAAAAAAACAG	0.396													-	125861043	AA	-	125861042	7	5	74	1	0	1	0	1	0	0	0	0	12964	363	13	0	2868	0	RABGAP1	9	125861042	Frame_Shift_Del	DEL	AA	TCGA-BR-8361-01A-11D-2340-08	1908104	125861042	15352389	865	51136											
STXBP1	6812	broad.mit.edu	37	chr9	130416073	130416073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatgaccgagggcataaCgagtgagcatgcgctctgca	12	11	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:130416073C>T	uc004brl.2	+	3	364	c.167C>T	c.(166-168)ACG>ATG	p.T56M	STXBP1_uc004brk.2_Missense_Mutation_p.T56M	NM_001032221	NP_001027392	P61764	STXB1_HUMAN	syntaxin binding protein 1 isoform b	56					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			skin(1)	1						GAGGGCATAACGAGTGAGCAT	0.358													T	130416073	C	T	130416073	3	4	74	1	0	0	0	0	1	0	0	0	15351	536	19	1	177	1	STXBP1	9	130416073	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	4555031	130416073	10797358	866	51137											
SH2D3C	10044	broad.mit.edu	37	chr9	130506862	130506862	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcagtccaccttggtgAcatgccgggccagcgtccgg	14	15	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:130506862A>G	uc004bsc.2	-	7	1923	c.1781T>C	c.(1780-1782)GTC>GCC	p.V594A	SH2D3C_uc010mxo.2_Missense_Mutation_p.V434A|SH2D3C_uc004bry.2_Missense_Mutation_p.V436A|SH2D3C_uc004brz.3_Missense_Mutation_p.V240A|SH2D3C_uc011mak.1_Missense_Mutation_p.V240A|SH2D3C_uc004bsa.2_Missense_Mutation_p.V437A|SH2D3C_uc004bsb.2_Missense_Mutation_p.V526A	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	594	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						CACCTTGGTGACATGCCGGGC	0.632													G	130506862	A	G	130506862	3	3	74	1	0	0	0	0	1	0	0	0	14234	275	10	3	825	3	SH2D3C	9	130506862	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	90789	130506862	10706569	867	51138											
SPTAN1	6709	broad.mit.edu	37	chr9	131369952	131369952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctagccaaggatgtcacCggagctgaggcattgctgga	15	9	1	1	rs148554113	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:131369952C>T	uc004bvl.3	+	32	4229	c.4116C>T	c.(4114-4116)ACC>ACT	p.T1372T	SPTAN1_uc004bvm.3_Silent_p.T1372T|SPTAN1_uc004bvn.3_Silent_p.T1352T	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1372	Spectrin 15.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						AGGATGTCACCGGAGCTGAGG	0.567													T	131369952	C	T	131369952	2	4	74	1	0	0	0	0	0	0	0	1	15116	639	23	1		1	SPTAN1	9	131369952	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	863090	131369952	9843479	868	51139											
LRRC8A	56262	broad.mit.edu	37	chr9	131669843	131669843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggtgcttctgcacacgCtcatcttcctggcctgcagc	9	16	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:131669843C>T	uc004bwl.3	+	3	654	c.400C>T	c.(400-402)CTC>TTC	p.L134F	LRRC8A_uc010myp.2_Missense_Mutation_p.L134F|LRRC8A_uc010myq.2_Missense_Mutation_p.L134F	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	134	Helical; (Potential).				pre-B cell differentiation	integral to membrane					0						TCTGCACACGCTCATCTTCCT	0.562													T	131669843	C	T	131669843	3	4	74	1	0	0	0	0	1	0	0	0	9021	797	28	2	402	2	LRRC8A	9	131669843	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	299891	131669843	9543588	869	51140											
FUBP3	8939	broad.mit.edu	37	chr9	133506105	133506105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagcgaccccaacctgcGgagattcaccatcagggggg	12	14	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:133506105G>A	uc004bzr.1	+	13	1316	c.1208G>A	c.(1207-1209)CGG>CAG	p.R403Q	FUBP3_uc004bzs.1_Missense_Mutation_p.R316Q	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	403	KH 4.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CCCAACCTGCGGAGATTCACC	0.602													A	133506105	G	A	133506105	3	1	74	1	0	0	0	0	1	0	0	0	6093	1116	39	1	1258	1	FUBP3	9	133506105	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1836262	133506105	7707326	870	51141											
POMT1	10585	broad.mit.edu	37	chr9	134387468	134387468	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcccaccagcaacaggtgAcctgttaccccttcaaagat	7	15	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:134387468A>G	uc004cav.2	+	11	1295	c.1093A>G	c.(1093-1095)ACC>GCC	p.T365A	POMT1_uc004cax.2_Missense_Mutation_p.T343A|POMT1_uc011mcj.1_Missense_Mutation_p.T121A|POMT1_uc004cau.2_Missense_Mutation_p.T343A|POMT1_uc004caw.2_Missense_Mutation_p.T289A|POMT1_uc011mck.1_Missense_Mutation_p.T226A|POMT1_uc011mcl.1_Missense_Mutation_p.T191A|POMT1_uc011mcm.1_Missense_Mutation_p.T313A|POMT1_uc011mcn.1_Missense_Mutation_p.T68A	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	365	MIR 1.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GCAACAGGTGACCTGTTACCC	0.443													G	134387468	A	G	134387468	3	3	74	1	0	0	0	0	1	0	0	0	12245	275	10	3	1131	3	POMT1	9	134387468	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	881363	134387468	6825963	871	51142											
RAPGEF1	2889	broad.mit.edu	37	chr9	134465325	134465325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgtgttcttgctgacgcGcttcttgaatgtgtcggcaa	12	9	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:134465325G>A	uc004cbc.2	-	16	2387	c.2257C>T	c.(2257-2259)CGC>TGC	p.R753C	RAPGEF1_uc004cbb.2_Missense_Mutation_p.R771C	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	753	N-terminal Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TTGCTGACGCGCTTCTTGAAT	0.562													A	134465325	G	A	134465325	3	1	74	1	0	0	0	0	1	0	0	0	13043	1087	38	1	1012	1	RAPGEF1	9	134465325	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	77857	134465325	6748106	872	51143											
REXO4	57109	broad.mit.edu	37	chr9	136282974	136282974	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttccccatcctgctgccGtccagcgcctgggccggcgg	13	19	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:136282974G>A	uc004cdm.2	-	1	191	c.-9C>T	c.(-11--7)GACGG>GATGG		ADAMTS13_uc004cdp.3_Intron|REXO4_uc011mde.1_Translation_Start_Site|REXO4_uc011mdf.1_Translation_Start_Site|REXO4_uc004cdn.2_Translation_Start_Site|REXO4_uc004cdo.2_Translation_Start_Site	NM_020385	NP_065118	Q9GZR2	REXO4_HUMAN	XPMC2 prevents mitotic catastrophe 2 homolog							nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TCCTGCTGCCGTCCAGCGCCT	0.731													A	136282974	G	A	136282974	1	1	74	1	0	0	0	0	0	0	0	0	13243	1160	40	1		1	REXO4	9	136282974	Translation_Start_Site	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1817649	136282974	4930457	873	51144											
COL5A1	1289	broad.mit.edu	37	chr9	137593103	137593103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccaccaaattcctcgaccGcagcgaccaccccatgatcg	7	18	0	1	rs142933609	by1000genomes	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:137593103G>A	uc004cfe.2	+	4	960	c.578G>A	c.(577-579)CGC>CAC	p.R193H		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	193	TSP N-terminal.|Laminin G-like.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTCCTCGACCGCAGCGACCAC	0.522													A	137593103	G	A	137593103	3	1	74	1	0	0	0	0	1	0	0	0	3696	1087	38	1	592	1	COL5A1	9	137593103	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1310129	137593103	3620328	874	51145											
COL5A1	1289	broad.mit.edu	37	chr9	137622231	137622231	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgatgacctcacctatggCgagggggaggagaaccccga	14	10	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:137622231C>T	uc004cfe.2	+	7	1456	c.1074C>T	c.(1072-1074)GGC>GGT	p.G358G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	358	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCACCTATGGCGAGGGGGAGG	0.602													T	137622231	C	T	137622231	2	4	74	1	0	0	0	0	0	0	0	1	3696	755	27	1		1	COL5A1	9	137622231	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	29128	137622231	3591200	875	51146											
KIAA0649	9858	broad.mit.edu	37	chr9	138378948	138378948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcaggcagagggccccacCgctcttgggacagggggccc	16	14	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:138378948C>T	uc004cfr.1	+	4	3141	c.2592C>T	c.(2590-2592)ACC>ACT	p.T864T		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	864						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		AGGGCCCCACCGCTCTTGGGA	0.632													T	138378948	C	T	138378948	2	4	74	1	0	0	0	0	0	0	0	1	8187	639	23	1		1	KIAA0649	9	138378948	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	756717	138378948	2834483	876	51147											
CAMSAP1	157922	broad.mit.edu	37	chr9	138714328	138714328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagagtccacggctctgaatCgtgggagttggggctttttg	16	7	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:138714328C>T	uc004cgr.3	-	11	2179	c.2179G>A	c.(2179-2181)GAT>AAT	p.D727N	CAMSAP1_uc004cgq.3_Missense_Mutation_p.D617N|CAMSAP1_uc010nbg.2_Missense_Mutation_p.D449N	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	727						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGCTCTGAATCGTGGGAGTTG	0.542													T	138714328	C	T	138714328	3	4	74	1	0	0	0	0	1	0	0	0	2611	884	31	1	2657	1	CAMSAP1	9	138714328	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	335380	138714328	2499103	877	51148											
SEC16A	9919	broad.mit.edu	37	chr9	139369735	139369735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccacctcggctctgcaccGgggccgccgagcttgggttc	14	16	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:139369735G>A	uc004chx.2	-	3	2642	c.2333C>T	c.(2332-2334)CCG>CTG	p.P778L	SEC16A_uc004chv.3_Missense_Mutation_p.P405L|SEC16A_uc004chw.2_Missense_Mutation_p.P778L|SEC16A_uc010nbn.2_Missense_Mutation_p.P778L|SEC16A_uc010nbo.1_Missense_Mutation_p.P778L	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	600					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCTCTGCACCGGGGCCGCCGA	0.592													A	139369735	G	A	139369735	3	1	74	1	0	0	0	0	1	0	0	0	13986	1116	39	1	4860	1	SEC16A	9	139369735	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	655407	139369735	1843696	878	51149											
C9orf163	158055	broad.mit.edu	37	chr9	139379255	139379255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgaacagagttagggagCacgtggtagggcccagcccc	15	10	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:139379255C>T	uc004chy.2	+	1	1309	c.355C>T	c.(355-357)CAC>TAC	p.H119Y	SEC16A_uc004chx.2_5'Flank|SEC16A_uc010nbo.1_5'Flank	NM_152571	NP_689784	Q8N9P6	CI163_HUMAN	hypothetical protein LOC158055	119							protein binding				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		AGTTAGGGAGCACGTGGTAGG	0.602											OREG0019617	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	139379255	C	T	139379255	3	4	74	1	0	0	0	0	1	0	0	0	2467	710	25	2	357	2	C9orf163	9	139379255	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	9520	139379255	1834176	879	51150											
AGPAT2	10555	broad.mit.edu	37	chr9	139571989	139571989	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaaagtacttgaagcttcGcacgaaccagccgatgatgc	10	10	0	2	rs104894093		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:139571989G>A	uc004cii.1	-	2	304	c.202C>T	c.(202-204)CGA>TGA	p.R68*	AGPAT2_uc004cij.1_Nonsense_Mutation_p.R68*	NM_006412	NP_006403	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	68					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		TTGAAGCTTCGCACGAACCAG	0.657													A	139571989	G	A	139571989	4	1	74	1	0	0	0	0	0	1	0	0	387	1095	38	1	654	1	AGPAT2	9	139571989	Nonsense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	192734	139571989	1641442	880	51151											
ABCA2	20	broad.mit.edu	37	chr9	139904081	139904081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggccttggggtccatgcCtgtggtgggctcgtcctggg	18	12	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:139904081C>T	uc011mem.1	-	43	6791	c.6643G>A	c.(6643-6645)GGC>AGC	p.G2215S	ABCA2_uc011mel.1_Missense_Mutation_p.G2216S|ABCA2_uc004ckl.1_Missense_Mutation_p.G2146S|ABCA2_uc004ckm.1_Missense_Mutation_p.G2246S	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	2215	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGGTCCATGCCTGTGGTGGGC	0.657													T	139904081	C	T	139904081	3	4	74	1	0	0	0	0	1	0	0	0	32	681	24	4	688	4	ABCA2	9	139904081	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	332092	139904081	1309350	881	51152											
ABCA2	20	broad.mit.edu	37	chr9	139909954	139909954	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggaagagcggggagccGcagcacttgagcttcccatg	15	10	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:139909954G>A	uc011mem.1	-	23	3754	c.3606C>T	c.(3604-3606)TGC>TGT	p.C1202C	ABCA2_uc011mel.1_Silent_p.C1203C|ABCA2_uc004ckl.1_Silent_p.C1133C|ABCA2_uc004ckm.1_Silent_p.C1233C|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1202	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCGGGGAGCCGCAGCACTTGA	0.647													A	139909954	G	A	139909954	2	1	74	1	0	0	0	0	0	0	0	1	32	1079	38	1		1	ABCA2	9	139909954	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	5873	139909954	1303477	882	51153											
ABCA2	20	broad.mit.edu	37	chr9	139912743	139912743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgaagctggagttctggCggatcttgtagtgcacgtga	16	7	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:139912743C>T	uc011mem.1	-	13	2025	c.1877G>A	c.(1876-1878)CGC>CAC	p.R626H	ABCA2_uc011mel.1_Missense_Mutation_p.R627H|ABCA2_uc004ckl.1_Missense_Mutation_p.R557H|ABCA2_uc004ckm.1_Missense_Mutation_p.R657H|ABCA2_uc004ckn.1_RNA|ABCA2_uc004cko.1_Missense_Mutation_p.R403H	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	626					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGAGTTCTGGCGGATCTTGTA	0.537													T	139912743	C	T	139912743	3	4	74	1	0	0	0	0	1	0	0	0	32	768	27	1	5574	1	ABCA2	9	139912743	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2789	139912743	1300688	883	51154											
GRIN1	2902	broad.mit.edu	37	chr9	140043558	140043558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggtcatcatcctttctgCcaggtgaggctgggcagggc	15	12	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:140043558C>T	uc004clk.2	+	4	998	c.668C>T	c.(667-669)GCC>GTC	p.A223V	GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Missense_Mutation_p.A220V|GRIN1_uc004cll.2_Missense_Mutation_p.A223V|GRIN1_uc004clm.2_Missense_Mutation_p.A223V|GRIN1_uc004cln.2_Missense_Mutation_p.A241V|GRIN1_uc004clo.2_Missense_Mutation_p.A241V	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	223	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			skin(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	ATCCTTTCTGCCAGGTGAGGC	0.607													T	140043558	C	T	140043558	3	4	74	1	0	0	0	0	1	0	0	0	6778	739	26	2	749	2	GRIN1	9	140043558	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	130815	140043558	1169873	884	51155											
NELF	26012	broad.mit.edu	37	chr9	140349733	140349733	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattctcccgtttccggcgcTtcctctccgcgtagcccctg	8	19	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:140349733T>C	uc004cna.2	-	6	969	c.737A>G	c.(736-738)AAG>AGG	p.K246R	C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_5'Flank|NELF_uc010nci.2_Missense_Mutation_p.K20R|NELF_uc011mey.1_Intron|NELF_uc011mez.1_Intron|NELF_uc004cmz.2_Missense_Mutation_p.K244R|NELF_uc004cnc.2_Intron|NELF_uc004cnb.2_Missense_Mutation_p.K246R	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	nasal embryonic LHRH factor isoform a	246						nucleus|plasma membrane					0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)		TTTCCGGCGCTTCCTCTCCGC	0.652													C	140349733	T	C	140349733	3	2	74	1	0	0	0	0	1	0	0	0	10332	1609	56	3	909	3	NELF	9	140349733	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	306175	140349733	863698	885	51156											
PNPLA7	375775	broad.mit.edu	37	chr9	140361898	140361898	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgccgcactccgccaaggcCttgagaacgcccacctgggc	11	17	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr9:140361898C>A	uc004cnf.2	-	25	3172	c.2835G>T	c.(2833-2835)AAG>AAT	p.K945N	C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Missense_Mutation_p.K211N|PNPLA7_uc004cne.1_Missense_Mutation_p.K211N|PNPLA7_uc011mfa.1_Missense_Mutation_p.K353N|PNPLA7_uc010ncj.1_Missense_Mutation_p.K970N	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	945	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCGCCAAGGCCTTGAGAACGC	0.647													A	140361898	C	A	140361898	3	1	74	1	0	0	0	0	1	0	0	0	12170	680	24	5	1158	5	PNPLA7	9	140361898	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	12165	140361898	851533	886	51157											
DIP2C	22982	broad.mit.edu	37	chr10	387169	387169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accagaggacaaatcccagtCcacagtaagggtccaggcag	11	12	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:387169C>T	uc001ifp.2	-	29	3644	c.3554G>A	c.(3553-3555)GGA>GAA	p.G1185E	DIP2C_uc009xhi.1_Missense_Mutation_p.G571E	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	1185						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AAATCCCAGTCCACAGTAAGG	0.498													T	387169	C	T	387169	3	4	74	1	0	0	0	0	1	0	0	0	4529	855	30	4	1152	4	DIP2C	10	387169	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08		387169	135147578	887	51158											
PRKCQ	5588	broad.mit.edu	37	chr10	6552975	6552975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccatatttctgtcttcccGttgttcttcctgcacctctc	4	16	4	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:6552975G>A	uc001ijj.1	-	3	375	c.300C>T	c.(298-300)AAC>AAT	p.N100N	PRKCQ_uc009xim.1_Silent_p.N100N|PRKCQ_uc001iji.1_Silent_p.N133N|PRKCQ_uc009xin.1_Silent_p.N64N|PRKCQ_uc010qax.1_Translation_Start_Site	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	100	C2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						CTGTCTTCCCGTTGTTCTTCC	0.478													A	6552975	G	A	6552975	2	1	74	1	0	0	0	0	0	0	0	1	12515	1136	40	1		1	PRKCQ	10	6552975	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	6165806	6552975	128981772	888	51159											
SFMBT2	57713	broad.mit.edu	37	chr10	7214079	7214079	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccggtctcctcactggcGgtgtcatcgtccatggcgtc	13	14	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:7214079G>A	uc009xio.1	-	19	2284	c.2193C>T	c.(2191-2193)ACC>ACT	p.T731T	SFMBT2_uc001ijn.1_Silent_p.T731T|SFMBT2_uc010qay.1_Silent_p.T566T	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	731					regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						CCTCACTGGCGGTGTCATCGT	0.687													A	7214079	G	A	7214079	2	1	74	1	0	0	0	0	0	0	0	1	14158	1103	39	1		1	SFMBT2	10	7214079	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	661104	7214079	128320668	889	51160											
SFMBT2	57713	broad.mit.edu	37	chr10	7326038	7326038	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaactatccagtactgaaaAgggttctgggaatcctgaag	10	8	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:7326038A>G	uc009xio.1	-	6	691	c.600T>C	c.(598-600)CCT>CCC	p.P200P	SFMBT2_uc001ijn.1_Silent_p.P200P|SFMBT2_uc010qay.1_Silent_p.P200P	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	200	MBT 2.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						AGTACTGAAAAGGGTTCTGGG	0.438													G	7326038	A	G	7326038	2	3	74	1	0	0	0	0	0	0	0	1	14158	59	3	3		3	SFMBT2	10	7326038	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	111959	7326038	128208709	890	51161											
ITIH5	80760	broad.mit.edu	37	chr10	7679376	7679376	+	Frame_Shift_Del	DEL	A	A	-													gaagctcctcataactcaggAaaaaggcggctttgtccttg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:7679375_7679375GA>G	uc021pmv.1	-	4	574	c.468_468TC>C	c.(466-468)ttcfs	p.F156fs	ITIH5_uc001ijr.2_Frame_Shift_Del_p.F156fs	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	156	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CATAACTCAGGAAAAAGGCGG	0.567													-	7679376	A	-	7679376	7	5	74	1	0	1	0	1	0	0	0	0	7907	246	9	0	2538	0	ITIH5	10	7679376	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	353338	7679376	127855371	891	51162											
TAF3	83860	broad.mit.edu	37	chr10	8056703	8056703	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcacaagaagaggaagcatCgagcccactgacgactcccg	11	13	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:8056703C>T	uc010qbd.1	+	7	2779	c.2779C>T	c.(2779-2781)CGA>TGA	p.R927*		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	927					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1						GAGGAAGCATCGAGCCCACTG	0.587													T	8056703	C	T	8056703	4	4	74	1	0	0	0	0	0	1	0	0	15522	876	31	1	2805	1	TAF3	10	8056703	Nonsense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	377327	8056703	127478044	892	51163											
CELF2	10659	broad.mit.edu	37	chr10	11330379	11330379	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taactttctcttccctccacAggcatgaatgctttacagtt	5	12	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:11330379A>G	uc001iki.3	+	9	913	c.821_splice	c.e9-2	p.G274_splice	CELF2_uc010qbi.1_Splice_Site_p.G46_splice|CELF2_uc010qbj.1_Splice_Site_p.G274_splice|CELF2_uc001ikk.2_Splice_Site_p.G281_splice|CELF2_uc001ikl.3_Splice_Site_p.G281_splice|CELF2_uc010qbk.1_Splice_Site|CELF2_uc010qbl.1_Splice_Site_p.G250_splice|CELF2_uc010qbm.1_Splice_Site_p.G46_splice|CELF2_uc001iko.3_Splice_Site_p.G250_splice|CELF2_uc001ikp.3_Splice_Site_p.G250_splice|CELF2_uc010qbn.1_Splice_Site_p.G258_splice|CELF2_uc010qbo.1_Splice_Site_p.G163_splice|CELF2_uc010qbp.1_Splice_Site_p.G46_splice	NM_001025077	NP_001020248	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2						mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0						TTCCCTCCACAGGCATGAATG	0.527													G	11330379	A	G	11330379	5	3	74	1	0	0	0	0	0	0	1	0	3216	202	7	3	931	3	CELF2	10	11330379	Splice_Site	SNP	A	TCGA-BR-8361-01A-11D-2340-08	3273676	11330379	124204368	893	51164											
SEPHS1	22929	broad.mit.edu	37	chr10	13371727	13371727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactggtgcacagccactgCcacctgtgtccccaggggtt	11	16	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:13371727C>T	uc001imk.2	-	6	981	c.622G>A	c.(622-624)GCA>ACA	p.A208T	SEPHS1_uc001imh.2_Missense_Mutation_p.A132T|SEPHS1_uc010qbs.1_Missense_Mutation_p.A160T|SEPHS1_uc001imi.2_Missense_Mutation_p.A208T|SEPHS1_uc001imj.2_Missense_Mutation_p.A208T|SEPHS1_uc010qbt.1_Missense_Mutation_p.A141T|SEPHS1_uc009xje.2_Missense_Mutation_p.A208T	NM_012247	NP_036379	P49903	SPS1_HUMAN	selenophosphate synthetase 1	208					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			skin(1)	1						ACAGCCACTGCCACCTGTGTC	0.517													T	13371727	C	T	13371727	3	4	74	1	0	0	0	0	1	0	0	0	14054	739	26	2	572	2	SEPHS1	10	13371727	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2041348	13371727	122163020	894	51165											
FRMD4A	55691	broad.mit.edu	37	chr10	13696452	13696453	+	Frame_Shift_Del	DEL	GG	GG	-													ggatgtggtgggggctgcttGggggggtggctccaatttca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:13696451_13696452TGG>T	uc001ims.3	-	22	3366_3367	c.3014_3015CCA>A	c.(3013-3015)ccafs	p.P1005fs	PRPF18_uc001imq.3_Intron|FRMD4A_uc009xjf.1_Frame_Shift_Del_p.P1005fs	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	1005	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGGC	0.535													-	13696453	GG	-	13696452	7	5	74	1	0	1	0	1	0	0	0	0	6051	1348	47	0	113	0	FRMD4A	10	13696452	Frame_Shift_Del	DEL	GG	TCGA-BR-8361-01A-11D-2340-08	324725	13696452	121838295	895	51166											
RSU1	6251	broad.mit.edu	37	chr10	16635393	16635393	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agccgatgccaatcccttccTtatctgttcttggctgccag	8	14	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:16635393T>G	uc001iok.2	-	8	1136	c.834A>C	c.(832-834)TAA>TAC	p.*278Y	RSU1_uc001iol.2_Nonstop_Mutation_p.*278Y|RSU1_uc001iom.2_Nonstop_Mutation_p.*225Y	NM_152724	NP_689937	Q15404	RSU1_HUMAN	ras suppressor protein 1 isoform 2	278					cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(1;7.54e-08)		AATCCCTTCCTTATCTGTTCT	0.507													G	16635393	T	G	16635393	4	3	74	1	0	0	0	0	0	0	0	0	13716	1616	56	5	3	5	RSU1	10	16635393	Nonstop_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	2938941	16635393	118899354	896	51167											
BMI1	648	broad.mit.edu	37	chr10	22618055	22618055	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctacatttatacctggagaAgggtaagtagcatatctgtt	9	7	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:22618055A>T	uc001irh.2	+	9	1288	c.649A>T	c.(649-651)AGG>TGG	p.R217W	BMI1_uc009xkg.2_Missense_Mutation_p.R360W	NM_005180	NP_005171	P35226	BMI1_HUMAN	BMI1 polycomb ring finger oncogene	217	Interaction with E4F1.				hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			ovary(1)|skin(1)	2						TACCTGGAGAAGGGTAAGTAG	0.289													T	22618055	A	T	22618055	3	4	74	1	0	0	0	0	1	0	0	0	1455	63	3	5	679	5	BMI1	10	22618055	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	5982662	22618055	112916692	897	51168											
ARMC3	219681	broad.mit.edu	37	chr10	23287215	23287215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgaacatacagaatcaCgacatcatgcatgccatcat	6	13	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:23287215C>T	uc001irm.3	+	11	1397	c.1314C>T	c.(1312-1314)CAC>CAT	p.H438H	ARMC3_uc010qcv.1_Silent_p.H438H|ARMC3_uc010qcw.1_Silent_p.H175H	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	438	ARM 11.						binding				0						TACAGAATCACGACATCATGC	0.527													T	23287215	C	T	23287215	2	4	74	1	0	0	0	0	0	0	0	1	952	535	19	1		1	ARMC3	10	23287215	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	669160	23287215	112247532	898	51169											
KIAA1217	56243	broad.mit.edu	37	chr10	24833341	24833341	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaggcctctccccgaccCttgctagttccggatgaagg	11	14	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:24833341C>T	uc001iru.3	+	19	5545	c.5142C>T	c.(5140-5142)CCC>CCT	p.P1714P	KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Silent_p.P1397P|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Silent_p.P550P	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1714					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						CTCCCCGACCCTTGCTAGTTC	0.507													T	24833341	C	T	24833341	2	4	74	1	0	0	0	0	0	0	0	1	8216	668	24	4		4	KIAA1217	10	24833341	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1546126	24833341	110701406	899	51170											
MKX	283078	broad.mit.edu	37	chr10	28023549	28023549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaagagtcattaaggtaaCggttcaacaagctgctcttg	9	8	4	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:28023549C>T	uc001ity.3	-	5	899	c.674G>A	c.(673-675)CGT>CAT	p.R225H	MKX_uc001itx.3_Missense_Mutation_p.R225H	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	mohawk homeobox	225					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						ATTAAGGTAACGGTTCAACAA	0.483													T	28023549	C	T	28023549	3	4	74	1	0	0	0	0	1	0	0	0	9610	536	19	1	396	1	MKX	10	28023549	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3190208	28023549	107511198	900	51171											
SVIL	6840	broad.mit.edu	37	chr10	29783879	29783879	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttagaaaggtttccagccTgtccaacttcaggtccgatt	8	11	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:29783879T>C	uc001iut.1	-	20	4558	c.3805A>G	c.(3805-3807)AGG>GGG	p.R1269G	SVIL_uc010qdw.1_Missense_Mutation_p.R183G|SVIL_uc001iuu.1_Missense_Mutation_p.R843G|SVIL_uc009xlc.2_Missense_Mutation_p.R61G	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1269					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				GTTTCCAGCCTGTCCAACTTC	0.448													C	29783879	T	C	29783879	3	2	74	1	0	0	0	0	1	0	0	0	15418	1579	55	3	2915	3	SVIL	10	29783879	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	1760330	29783879	105750868	901	51172											
KIAA1462	57608	broad.mit.edu	37	chr10	30315568	30315568	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtgctcaaaagcctgaGgagcccgcctggcactgtcc	12	14	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:30315568G>T	uc001iux.2	-	2	3568	c.3509C>A	c.(3508-3510)CCT>CAT	p.P1170H	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.P1032H|KIAA1462_uc009xle.1_Missense_Mutation_p.P1170H	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	1170										ovary(4)	4						AAAAGCCTGAGGAGCCCGCCT	0.597													T	30315568	G	T	30315568	3	4	74	1	0	0	0	0	1	0	0	0	8234	1000	35	5	578	5	KIAA1462	10	30315568	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	531689	30315568	105219179	902	51173											
ZEB1	6935	broad.mit.edu	37	chr10	31816061	31816061	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaggtagaagaggcagagAatgagggagaagaagcaaaa	16	2	0	7			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:31816061A>G	uc001ivs.3	+	9	3307	c.3244A>G	c.(3244-3246)AAT>GAT	p.N1082D	ZEB1_uc001ivr.3_Missense_Mutation_p.N864D|ZEB1_uc010qee.1_Missense_Mutation_p.N864D|ZEB1_uc010qef.1_Missense_Mutation_p.N864D|ZEB1_uc001ivt.3_Missense_Mutation_p.N864D|ZEB1_uc001ivu.3_Missense_Mutation_p.N1083D|ZEB1_uc001ivv.3_Missense_Mutation_p.N1062D|ZEB1_uc010qeh.1_Missense_Mutation_p.N1015D|ZEB1_uc009xlp.2_Missense_Mutation_p.N1066D	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	1082	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				agaggcagagaatgagggaga	0.194													G	31816061	A	G	31816061	3	3	74	1	0	0	0	0	1	0	0	0	17620	246	9	3	3292	3	ZEB1	10	31816061	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1500493	31816061	103718686	903	51174											
CCDC7	221016	broad.mit.edu	37	chr10	32833205	32833205	+	Frame_Shift_Del	DEL	A	A	-													ccagaaaaagagtttaaaatAaaagaagatttggatcaagt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:32833204_32833204TA>T	uc001iwj.3	+	13	1679	c.1109_1109TA>T	c.(1108-1110)atafs	p.I370fs	CCDC7_uc001iwk.3_Frame_Shift_Del_p.I370fs|CCDC7_uc009xlv.3_Non-coding_Transcript	NM_145023	NP_659460	Q96M83	CCDC7_HUMAN	Homo sapiens coiled-coil domain containing 7 (CCDC7), transcript variant 1, mRNA.	370										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				GAGTTTAAAATAAAAGAAGAT	0.308													-	32833205	A	-	32833205	7	5	74	1	0	1	0	1	0	0	0	0	2842	352	13	0	1160	0	CCDC7	10	32833205	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	1017144	32833205	102701542	904	51175											
FZD8	8325	broad.mit.edu	37	chr10	35929370	35929370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtggcccgccaccaggcGcactaggtagcccaccgaca	11	18	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:35929370G>A	uc001iyz.1	-	1	993	c.988C>T	c.(988-990)CGC>TGC	p.R330C		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	330	Helical; Name=2; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0						GCCACCAGGCGCACTAGGTAG	0.433													A	35929370	G	A	35929370	3	1	74	1	0	0	0	0	1	0	0	0	6136	1087	38	1	1100	1	FZD8	10	35929370	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	3096165	35929370	99605377	905	51176											
ZNF37A	7587	broad.mit.edu	37	chr10	38407491	38407491	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccttttggatgtaatgAatgtgggaaaaccttccgtc	10	7	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:38407491A>T	uc001izk.2	+	8	2231	c.1412A>T	c.(1411-1413)GAA>GTA	p.E471V	ZNF37A_uc001izl.2_Missense_Mutation_p.E471V|ZNF37A_uc001izm.2_Missense_Mutation_p.E471V	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN	zinc finger protein 37a	471	C2H2-type 10.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)	1						GGATGTAATGAATGTGGGAAA	0.398													T	38407491	A	T	38407491	3	4	74	1	0	0	0	0	1	0	0	0	17869	246	9	5	1426	5	ZNF37A	10	38407491	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	2478121	38407491	97127256	906	51177											
BMS1	9790	broad.mit.edu	37	chr10	43318712	43318712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggataagctgctgatgagCggtgagtgtcttgagtagtg	17	4	1	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:43318712C>T	uc001jaj.2	+	20	3637	c.3279C>T	c.(3277-3279)AGC>AGT	p.S1093S		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	1093					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						TGCTGATGAGCGGTGAGTGTC	0.517													T	43318712	C	T	43318712	2	4	74	1	0	0	0	0	0	0	0	1	1472	782	27	1		1	BMS1	10	43318712	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	4911221	43318712	92216035	907	51178											
RET	5979	broad.mit.edu	37	chr10	43600465	43600465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgcgctgggccctggacCgcgagcagcgggagaagtac	17	13	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:43600465C>T	uc001jal.2	+	4	881	c.691C>T	c.(691-693)CGC>TGC	p.R231C	RET_uc001jak.1_Missense_Mutation_p.R231C|RET_uc010qez.1_5'UTR	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	231	Cadherin.|Extracellular (Potential).		R -> H (in HSCR1; familial form).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	GGCCCTGGACCGCGAGCAGCG	0.711		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				T	43600465	C	T	43600465	3	4	74	1	0	0	0	0	1	0	0	0	13235	652	23	1	705	1	RET	10	43600465	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	281753	43600465	91934282	908	51179											
ALOX5	240	broad.mit.edu	37	chr10	45939255	45939255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccgcctccgcccagcaCgccgcggtcaacttcggcca	9	20	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:45939255C>T	uc001jce.2	+	12	1752	c.1653C>T	c.(1651-1653)CAC>CAT	p.H551H	ALOX5_uc009xmt.2_Silent_p.H519H|ALOX5_uc010qfg.1_Silent_p.H551H	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	551	Lipoxygenase.	Iron; catalytic.		H->N,A: No activity.	hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			ovary(1)|pancreas(1)	2		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CCGCCCAGCACGCCGCGGTCA	0.706													T	45939255	C	T	45939255	2	4	74	1	0	0	0	0	0	0	0	1	540	535	19	1		1	ALOX5	10	45939255	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2338790	45939255	89595492	909	51180											
ALOX5	240	broad.mit.edu	37	chr10	45941110	45941110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactacttgtccccagaccGgattccgaacagtgtggcca	9	13	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:45941110G>A	uc001jce.2	+	14	2099	c.2000G>A	c.(1999-2001)CGG>CAG	p.R667Q	ALOX5_uc009xmt.2_Missense_Mutation_p.R635Q|ALOX5_uc010qfg.1_Missense_Mutation_p.R610Q	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	667	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			ovary(1)|pancreas(1)	2		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	TCCCCAGACCGGATTCCGAAC	0.587													A	45941110	G	A	45941110	3	1	74	1	0	0	0	0	1	0	0	0	540	1116	39	1	2054	1	ALOX5	10	45941110	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1855	45941110	89593637	910	51181											
SYT15	83849	broad.mit.edu	37	chr10	46967496	46967496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttggattggaggaagcgcCgctcatcgggcagcaggtag	16	9	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:46967496C>T	uc001jea.2	-	4	734	c.581G>A	c.(580-582)CGG>CAG	p.R194Q	SYT15_uc001jdz.2_Missense_Mutation_p.R194Q|SYT15_uc001jeb.2_Missense_Mutation_p.R72Q|SYT15_uc010qfp.1_RNA	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	synaptotagmin XV isoform a	194	Cytoplasmic (Potential).|C2 1.					integral to membrane|plasma membrane					0						GAGGAAGCGCCGCTCATCGGG	0.607													T	46967496	C	T	46967496	3	4	74	1	0	0	0	0	1	0	0	0	15468	652	23	1	758	1	SYT15	10	46967496	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1026386	46967496	88567251	911	51182											
GDF10	2662	broad.mit.edu	37	chr10	48429056	48429056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagttgttgggggctgcgCggggctcggggtctccggca	20	10	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:48429056C>T	uc001jfb.2	-	2	1286	c.830G>A	c.(829-831)CGC>CAC	p.R277H	GDF10_uc009xnp.2_Missense_Mutation_p.R276H|GDF10_uc009xnq.1_Missense_Mutation_p.R277H	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	277					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2						GGGGGCTGCGCGGGGCTCGGG	0.692													T	48429056	C	T	48429056	3	4	74	1	0	0	0	0	1	0	0	0	6311	768	27	1	614	1	GDF10	10	48429056	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1461560	48429056	87105691	912	51183											
LRRC18	474354	broad.mit.edu	37	chr10	50122031	50122031	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgataagattccggctaAggtccagctcgtccatgtca	9	12	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:50122031A>C	uc001jhd.2	-	1	250	c.170T>G	c.(169-171)CTT>CGT	p.L57R	WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.L57R	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	57	LRR 2.					cytoplasm				ovary(1)|pancreas(1)	2						ATTCCGGCTAAGGTCCAGCTC	0.507													C	50122031	A	C	50122031	3	2	74	1	0	0	0	0	1	0	0	0	8974	72	3	5	623	5	LRRC18	10	50122031	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1692975	50122031	85412716	913	51184											
AGAP7	653268	broad.mit.edu	37	chr10	51464874	51464874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttctgtgggttttgtccGcccctggctgctcccttccc	9	16	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:51464874G>A	uc001jio.2	-	7	1708	c.1582C>T	c.(1582-1584)CGG>TGG	p.R528W	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	528	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						GGTTTTGTCCGCCCCTGGCTG	0.532													A	51464874	G	A	51464874	3	1	74	1	0	0	0	0	1	0	0	0	373	1086	38	1	413	1	AGAP7	10	51464874	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1342843	51464874	84069873	914	51185											
CSTF2T	23283	broad.mit.edu	37	chr10	53459247	53459248	+	Frame_Shift_Ins	INS	-	-	C													ttgcctcatatggaatgttcINScccacgaacacggaacgcag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:53459246_53459247T>TC	uc001jjp.3	-	0	109_110	c.63_64A>GA	c.(61-66)gggaacfs	p.G21fs	PRKG1_uc001jjm.3_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.3_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant (CSTF2T), mRNA.	21	RRM.				mRNA processing	nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TATGGAATGTTCCCCACGAACA	0.515													C	53459248	-	C	53459247	7	5	74	1	0	1	1	0	0	0	0	0	3985	842	30	0	1791	0	CSTF2T	10	53459247	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1994373	53459247	82075500	915	51186											
PCDH15	65217	broad.mit.edu	37	chr10	55591248	55591248	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcctccttccccataataCggctgaaagtctttattgat	6	12	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:55591248C>T	uc001jju.1	-	30	4424	c.4029G>A	c.(4027-4029)CCG>CCA	p.P1343P	PCDH15_uc010qhq.1_Silent_p.P1348P|PCDH15_uc010qhr.1_Silent_p.P1343P|PCDH15_uc010qhs.1_Silent_p.P1355P|PCDH15_uc010qht.1_Silent_p.P1350P|PCDH15_uc010qhu.1_Silent_p.P1343P|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.P1343P|PCDH15_uc010qhw.1_Silent_p.P1306P|PCDH15_uc010qhx.1_Silent_p.P1272P|PCDH15_uc010qhy.1_Silent_p.P1348P|PCDH15_uc010qhz.1_Silent_p.P1343P|PCDH15_uc010qia.1_Silent_p.P1321P|PCDH15_uc010qib.1_Silent_p.P1321P	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1343	Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CCCCATAATACGGCTGAAAGT	0.398										HNSCC(58;0.16)			T	55591248	C	T	55591248	2	4	74	1	0	0	0	0	0	0	0	1	11511	523	19	1		1	PCDH15	10	55591248	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2132001	55591248	79943499	916	51187											
RHOBTB1	9886	broad.mit.edu	37	chr10	62648943	62648943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatcccctctctttatgggCctgaaatagaacattttaaa	5	9	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:62648943C>T	uc001jli.2	-	7	921	c.483G>A	c.(481-483)AGG>AGA	p.R161R	RHOBTB1_uc001jlh.2_Silent_p.R161R|RHOBTB1_uc001jlj.2_Silent_p.R161R|RHOBTB1_uc001jlk.2_Silent_p.R161R|RHOBTB1_uc009xpe.1_Silent_p.R99R|RHOBTB1_uc001jll.2_5'UTR	NM_014836	NP_055651	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	161	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			upper_aerodigestive_tract(1)	1	Prostate(12;0.0112)					TCTTTATGGGCCTGAAATAGA	0.388													T	62648943	C	T	62648943	2	4	74	1	0	0	0	0	0	0	0	1	13333	753	26	2		2	RHOBTB1	10	62648943	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	7057695	62648943	72885804	917	51188											
ARID5B	84159	broad.mit.edu	37	chr10	63700041	63700041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggagatgtggcttccacGctggaccagtgaaaactgag	14	8	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:63700041G>A	uc001jlt.1	+	3	402	c.376G>A	c.(376-378)GCT>ACT	p.A126T	ARID5B_uc010qil.1_Missense_Mutation_p.A126T	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	126					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					TGGCTTCCACGCTGGACCAGT	0.478													A	63700041	G	A	63700041	3	1	74	1	0	0	0	0	1	0	0	0	922	1087	38	1	386	1	ARID5B	10	63700041	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1051098	63700041	71834706	918	51189											
CTNNA3	29119	broad.mit.edu	37	chr10	68940122	68940122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagagcctggcgaatggCgttgcattctgcgataatcc	12	10	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:68940122C>T	uc009xpn.1	-	7	1123	c.1000G>A	c.(1000-1002)GCC>ACC	p.A334T	CTNNA3_uc001jmw.2_Missense_Mutation_p.A334T|CTNNA3_uc001jmx.3_Missense_Mutation_p.A334T|CTNNA3_uc009xpo.1_Missense_Mutation_p.A194T|CTNNA3_uc001jna.2_Missense_Mutation_p.A346T	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	334	Potential.				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						TGGCGAATGGCGTTGCATTCT	0.517													T	68940122	C	T	68940122	3	4	74	1	0	0	0	0	1	0	0	0	4014	768	27	1	1735	1	CTNNA3	10	68940122	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	5240081	68940122	66594625	919	51190											
DDX21	9188	broad.mit.edu	37	chr10	70723160	70723160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggaagacattctcctttGccatccctttgattgagaaa	8	10	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:70723160G>A	uc001jov.1	+	4	811	c.721G>A	c.(721-723)GCC>ACC	p.A241T	DDX21_uc001jow.1_Missense_Mutation_p.A173T	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 21	241	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)	3						ATTCTCCTTTGCCATCCCTTT	0.473													A	70723160	G	A	70723160	3	1	74	1	0	0	0	0	1	0	0	0	4349	1319	46	2	735	2	DDX21	10	70723160	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1783038	70723160	64811587	920	51191											
HK1	3098	broad.mit.edu	37	chr10	71144653	71144653	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgttctcatttccctgccaGcagacgagtctggacgcggt	11	13	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:71144653G>T	uc001jpl.3	+	12	1922	c.1821G>T	c.(1819-1821)CAG>CAT	p.Q607H	HK1_uc001jpg.3_Missense_Mutation_p.Q595H|HK1_uc001jph.3_Missense_Mutation_p.Q611H|HK1_uc001jpi.3_Missense_Mutation_p.Q611H|HK1_uc001jpj.3_Missense_Mutation_p.Q642H|HK1_uc001jpk.3_Missense_Mutation_p.Q606H|HK1_uc009xqd.2_Missense_Mutation_p.Q485H	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	607	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						TTCCCTGCCAGCAGACGAGTC	0.572													T	71144653	G	T	71144653	3	4	74	1	0	0	0	0	1	0	0	0	7190	962	34	5	2045	5	HK1	10	71144653	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	421493	71144653	64390094	921	51192											
SLC29A3	55315	broad.mit.edu	37	chr10	73115921	73115921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgaggaacagcgccctgGccttcttcctgacggccact	11	14	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:73115921G>A	uc001jrr.3	+	5	751	c.694G>A	c.(694-696)GCC>ACC	p.A232T	SLC29A3_uc001jrs.3_Missense_Mutation_p.A232T|SLC29A3_uc010qjq.1_Missense_Mutation_p.A86T|SLC29A3_uc001jrt.3_Missense_Mutation_p.A26T|SLC29A3_uc001jru.3_Missense_Mutation_p.A44T	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (nucleoside	232	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity				0						CAGCGCCCTGGCCTTCTTCCT	0.612													A	73115921	G	A	73115921	3	1	74	1	0	0	0	0	1	0	0	0	14536	1203	42	2	712	2	SLC29A3	10	73115921	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1971268	73115921	62418826	922	51193											
P4HA1	5033	broad.mit.edu	37	chr10	74813270	74813270	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatccacagttccgtatggTaataatctgcttctgtatag	7	10	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:74813270T>C	uc010qka.1	-	7	876	c.542A>G	c.(541-543)TAC>TGC	p.Y181C	P4HA1_uc001jtg.2_Missense_Mutation_p.Y181C|P4HA1_uc001jth.2_Missense_Mutation_p.Y181C|P4HA1_uc010qkb.1_Missense_Mutation_p.Y181C|P4HA1_uc001jti.2_RNA	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha I subunit isoform 2	181						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			ovary(1)	1	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTCCGTATGGTAATAATCTGC	0.413													C	74813270	T	C	74813270	3	2	74	1	0	0	0	0	1	0	0	0	11356	1638	57	3	1177	3	P4HA1	10	74813270	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	1697349	74813270	60721477	923	51194											
ADK	132	broad.mit.edu	37	chr10	76360209	76360209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaaagaggcagcgaatcGtgatcttcacccaagggaga	11	10	3	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:76360209G>A	uc001jwi.2	+	9	907	c.835G>A	c.(835-837)GTG>ATG	p.V279M	ADK_uc010qlb.1_Missense_Mutation_p.V222M|ADK_uc001jwj.2_Missense_Mutation_p.V262M|ADK_uc010qlc.1_Missense_Mutation_p.V244M|ADK_uc001jwl.2_Missense_Mutation_p.V49M	NM_006721	NP_006712	P55263	ADK_HUMAN	adenosine kinase isoform b	279					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor			ovary(1)|skin(1)	2	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	GCAGCGAATCGTGATCTTCAC	0.368													A	76360209	G	A	76360209	3	1	74	1	0	0	0	0	1	0	0	0	320	1145	40	1	887	1	ADK	10	76360209	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1546939	76360209	59174538	924	51195											
KCNMA1	3778	broad.mit.edu	37	chr10	78647136	78647136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacagaggagctcttcttgCtggaggactgcgacgagtgg	16	8	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:78647136C>T	uc001jxn.2	-	28	3776	c.3599G>A	c.(3598-3600)AGC>AAC	p.S1200N	KCNMA1_uc001jxj.2_Missense_Mutation_p.S1146N|KCNMA1_uc001jxk.1_Missense_Mutation_p.S818N|KCNMA1_uc009xrt.1_Missense_Mutation_p.S991N|KCNMA1_uc001jxl.1_Missense_Mutation_p.S825N|KCNMA1_uc001jxo.2_Missense_Mutation_p.S1183N|KCNMA1_uc001jxm.2_Missense_Mutation_p.S1142N|KCNMA1_uc001jxq.2_Missense_Mutation_p.S1172N|uc001jxp.2_5'Flank	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1200	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GCTCTTCTTGCTGGAGGACTG	0.587													T	78647136	C	T	78647136	3	4	74	1	0	0	0	0	1	0	0	0	8073	797	28	2	144	2	KCNMA1	10	78647136	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2286927	78647136	56887611	925	51196											
POLR3A	11128	broad.mit.edu	37	chr10	79750815	79750815	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctggcagagctcacctgCaggaagctgtcctggcagca	12	14	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:79750815C>T	uc001jzn.2	-	21	2992	c.2898G>A	c.(2896-2898)CTG>CTA	p.L966L		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	966					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AGCTCACCTGCAGGAAGCTGT	0.542													T	79750815	C	T	79750815	2	4	74	1	0	0	0	0	0	0	0	1	12228	697	25	2		2	POLR3A	10	79750815	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1103679	79750815	55783932	926	51197											
ZMIZ1	57178	broad.mit.edu	37	chr10	81052026	81052026	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagcggcagtggcagcAgcagcagccacagctacagc	14	14	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:81052026A>G	uc001kaf.2	+	11	1442	c.870A>G	c.(868-870)GCA>GCG	p.A290A	ZMIZ1_uc001kag.2_Silent_p.A166A|ZMIZ1_uc001kah.1_Silent_p.A166A	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	290	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			cagtggcagcagcagcagcCA	0.493													G	81052026	A	G	81052026	2	3	74	1	0	0	0	0	0	0	0	1	17693	175	7	3		3	ZMIZ1	10	81052026	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1301211	81052026	54482721	927	51198											
GHITM	27069	broad.mit.edu	37	chr10	85904668	85904668	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggatagaattcattccAcctatatgtacttagcaggg	8	8	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:85904668A>G	uc001kcs.1	+	5	583	c.379A>G	c.(379-381)ACC>GCC	p.T127A	GHITM_uc010qma.1_Intron|GHITM_uc010qmb.1_Missense_Mutation_p.T57A	NM_014394	NP_055209	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	127	Helical; (Potential).				apoptosis	integral to membrane|mitochondrial inner membrane					0						AATTCATTCCACCTATATGTA	0.338													G	85904668	A	G	85904668	3	3	74	1	0	0	0	0	1	0	0	0	6370	159	6	3	393	3	GHITM	10	85904668	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	4852642	85904668	49630079	928	51199											
WAPAL	23063	broad.mit.edu	37	chr10	88197332	88197332	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaatattcaatcactctagAgatagatttctggccagttg	7	8	4	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:88197332A>G	uc001kdo.2	-	19	3983	c.3541T>C	c.(3541-3543)TCT>CCT	p.S1181P	WAPAL_uc009xsv.2_Missense_Mutation_p.S440P|WAPAL_uc001kdn.2_Missense_Mutation_p.S1218P|WAPAL_uc009xsw.2_Missense_Mutation_p.S1175P	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	1181					cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1						ATCACTCTAGAGATAGATTTC	0.383													G	88197332	A	G	88197332	3	3	74	1	0	0	0	0	1	0	0	0	17245	304	11	3	35	3	WAPAL	10	88197332	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	2292664	88197332	47337415	929	51200											
MMRN2	79812	broad.mit.edu	37	chr10	88703315	88703315	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagttccttgatctcatccAcgtgccgggtcagggtggcc	12	13	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:88703315A>C	uc001kea.2	-	6	1353	c.1226T>G	c.(1225-1227)GTG>GGG	p.V409G	MMRN2_uc010qmn.1_Missense_Mutation_p.V52G|MMRN2_uc009xtb.2_Missense_Mutation_p.V366G	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	409	Potential.					extracellular space				large_intestine(1)	1						GATCTCATCCACGTGCCGGGT	0.602													C	88703315	A	C	88703315	3	2	74	1	0	0	0	0	1	0	0	0	9671	159	6	5	1631	5	MMRN2	10	88703315	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	505983	88703315	46831432	930	51201											
RPP30	10556	broad.mit.edu	37	chr10	92656100	92656100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgggctctctgaaagtgaCgccaaggctgcggtgtccac	13	11	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:92656100C>T	uc009xtx.2	+	10	683	c.648C>T	c.(646-648)GAC>GAT	p.D216D	RPP30_uc001khd.2_Silent_p.D216D	NM_006413	NP_006404	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit isoform b	216					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity				0						CTGAAAGTGACGCCAAGGCTG	0.488													T	92656100	C	T	92656100	2	4	74	1	0	0	0	0	0	0	0	1	13612	535	19	1		1	RPP30	10	92656100	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3952785	92656100	42878647	931	51202											
ANKRD1	27063	broad.mit.edu	37	chr10	92675945	92675945	+	Frame_Shift_Del	DEL	T	T	-													taccttatctcgggcgctaaTttttgctcctttattcagca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:92675944_92675944AT>A	uc001khe.1	-	5	883	c.635_635AT>T	c.(634-636)attfs	p.I212fs		NM_014391	NP_055206	Q15327	ANKR1_HUMAN	Homo sapiens ankyrin repeat domain 1 (cardiac muscle) (ANKRD1), mRNA.	212					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TCGGGCGCTAATTTTTGCTCC	0.517													-	92675945	T	-	92675945	7	5	74	1	0	1	0	1	0	0	0	0	637	1493	52	0	341	0	ANKRD1	10	92675945	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	19845	92675945	42858802	932	51203											
CYP26C1	340665	broad.mit.edu	37	chr10	94828127	94828127	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtatagcatccgggacacGcacgagacggctgcggtgta	14	10	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:94828127G>A	uc010qns.1	+	6	1242	c.1242G>A	c.(1240-1242)ACG>ACA	p.T414T	CYP26C1_uc009xud.2_RNA	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C,	414					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)	1		Colorectal(252;0.122)				TCCGGGACACGCACGAGACGG	0.667													A	94828127	G	A	94828127	2	1	74	1	0	0	0	0	0	0	0	1	4157	1074	38	1		1	CYP26C1	10	94828127	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2152182	94828127	40706620	933	51204											
MYOF	26509	broad.mit.edu	37	chr10	95168550	95168550	+	Frame_Shift_Del	DEL	A	A	-													ctcaacccctttacctcatcAaaaaaagggttgtttcctct							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:95168549_95168549CA>C	uc001kin.3	-	6	847	c.724_724TG>G	c.(724-726)gatfs	p.D242fs	MYOF_uc001kio.3_Frame_Shift_Del_p.D242fs|MYOF_uc001kip.4_Frame_Shift_Del_p.D242fs|MYOF_uc009xuf.2_Frame_Shift_Del_p.D224fs	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	242	C2 2.|Necessary for interaction with EHD2.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTACCTCATCAAAAAAAGGG	0.498													-	95168550	A	-	95168550	7	5	74	1	0	1	0	1	0	0	0	0	10089	127	5	0	5654	0	MYOF	10	95168550	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	340423	95168550	40366197	934	51205											
MMS19	64210	broad.mit.edu	37	chr10	99237113	99237113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctcttaccttcttcccGggttcgcataaaattggtga	8	11	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:99237113G>A	uc001kns.3	-	6	709	c.484C>T	c.(484-486)CGG>TGG	p.R162W	MMS19_uc009xvt.2_Missense_Mutation_p.R4W|MMS19_uc001knr.2_Missense_Mutation_p.R4W|MMS19_uc010qox.1_Missense_Mutation_p.R183W|MMS19_uc001knt.2_Missense_Mutation_p.R162W|MMS19_uc001knu.1_RNA	NM_022362	NP_071757	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog	162					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity				0		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		CCTTCTTCCCGGGTTCGCATA	0.448								Direct_reversal_of_damage|NER					A	99237113	G	A	99237113	3	1	74	1	0	0	0	0	1	0	0	0	9672	1115	39	1	2712	1	MMS19	10	99237113	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	4068563	99237113	36297634	935	51206											
GOLGA7B	401647	broad.mit.edu	37	chr10	99623729	99623729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactgtgaagaccctcaacGgattttacgcagaggctgag	12	9	1	5			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:99623729G>A	uc001kos.2	+	3	246	c.181G>A	c.(181-183)GGA>AGA	p.G61R		NM_001010917	NP_001010917	Q2TAP0	GOG7B_HUMAN	golgi autoantigen, golgin subfamily a, 7B	61						Golgi membrane					0						GACCCTCAACGGATTTTACGC	0.587													A	99623729	G	A	99623729	3	1	74	1	0	0	0	0	1	0	0	0	6562	1117	39	1	191	1	GOLGA7B	10	99623729	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	386616	99623729	35911018	936	51207											
CNNM1	26507	broad.mit.edu	37	chr10	101122095	101122095	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgagaagaacaagaaggcccCggaacactacctctaccagc	9	13	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:101122095C>G	uc001kpp.3	+	4	2259	c.1970C>G	c.(1969-1971)CCG>CGG	p.P657R	CNNM1_uc009xwe.2_Missense_Mutation_p.P657R|CNNM1_uc010qpi.1_Missense_Mutation_p.P657R|CNNM1_uc009xwf.2_Missense_Mutation_p.P657R|CNNM1_uc009xwg.2_Missense_Mutation_p.P57R	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	657					ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		AAGAAGGCCCCGGAACACTAC	0.527													G	101122095	C	G	101122095	3	3	74	1	0	0	0	0	1	0	0	0	3612	652	23	5	1984	5	CNNM1	10	101122095	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1498366	101122095	34412652	937	51208											
CPN1	1369	broad.mit.edu	37	chr10	101823471	101823471	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catccatgtgcataggagtaGaccttggccagctagaggaa	12	9	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:101823471G>A	uc001kql.2	-	5	1031	c.771C>T	c.(769-771)GTC>GTT	p.V257V		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	257	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CATAGGAGTAGACCTTGGCCA	0.493													A	101823471	G	A	101823471	2	1	74	1	0	0	0	0	0	0	0	1	3809	929	33	4		4	CPN1	10	101823471	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	701376	101823471	33711276	938	51209											
CHUK	1147	broad.mit.edu	37	chr10	101953779	101953779	+	Frame_Shift_Del	DEL	T	T	-													atgccatatttctttctgccTttttccctgcatgaacatga							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:101953778_101953778CT>C	uc001kqp.3	-	17	1992	c.1937_1937AG>G	c.(1936-1938)aggfs	p.R646fs		NM_001278	NP_001269	O15111	IKKA_HUMAN	Homo sapiens conserved helix-loop-helix ubiquitous kinase (CHUK), mRNA.	646					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|IkappaB kinase activity|identical protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		TTCTTTCTGCCTTTTTCCCTG	0.373													-	101953779	T	-	101953779	7	5	74	1	0	1	0	1	0	0	0	0	3416	1608	56	0	317	0	CHUK	10	101953779	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	130308	101953779	33580968	939	51210											
PPRC1	23082	broad.mit.edu	37	chr10	103901063	103901063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcatgtgtccccttctgGctatccttgcctgccccccc	6	20	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:103901063G>A	uc001kum.2	+	5	2837	c.2798G>A	c.(2797-2799)GGC>GAC	p.G933D	PPRC1_uc001kun.2_Missense_Mutation_p.G813D|PPRC1_uc010qqj.1_Missense_Mutation_p.G933D|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	933	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCCCCTTCTGGCTATCCTTGC	0.587													A	103901063	G	A	103901063	3	1	74	1	0	0	0	0	1	0	0	0	12410	1203	42	2	2816	2	PPRC1	10	103901063	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1947284	103901063	31633684	940	51211											
GBF1	8729	broad.mit.edu	37	chr10	104140951	104140951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgacttccgctgctggCgacactaggacacctggcca	10	16	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:104140951C>T	uc001kux.1	+	39	5478	c.5238C>T	c.(5236-5238)GGC>GGT	p.G1746G	GBF1_uc001kuy.1_Silent_p.G1742G|GBF1_uc001kuz.1_Silent_p.G1743G	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1746					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCGCTGCTGGCGACACTAGGA	0.602													T	104140951	C	T	104140951	2	4	74	1	0	0	0	0	0	0	0	1	6271	755	27	1		1	GBF1	10	104140951	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	239888	104140951	31393796	941	51212											
SUFU	51684	broad.mit.edu	37	chr10	104389902	104389902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacgtggtgttcgacagtcCgctacactagcctgggctgg	14	11	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:104389902C>T	uc001kvy.1	+	12	1591	c.1445C>T	c.(1444-1446)CCG>CTG	p.P482L	SUFU_uc009xxe.1_RNA|SUFU_uc009xxf.1_RNA	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	suppressor of fused	482					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			central_nervous_system(4)|skin(2)|breast(1)	7		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		TTCGACAGTCCGCTACACTAG	0.567			D|F|S		medulloblastoma	medulloblastoma			Medulloblastoma_associated_with_Germline_SUFU_Mutation				T	104389902	C	T	104389902	3	4	74	1	0	0	0	0	1	0	0	0	15367	652	23	1	1501	1	SUFU	10	104389902	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	248951	104389902	31144845	942	51213											
CNNM2	54805	broad.mit.edu	37	chr10	104678874	104678875	+	Frame_Shift_Ins	INS	-	-	G													gtccacgggtggcgccgtcgINSggggcaagggtggctcgggg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:104678873_104678874C>CG	uc001kwm.3	+	0	799_800	c.636_637C>CG	c.(634-639)gtcgggfs	p.V212fs	CNNM2_uc001kwn.3_Frame_Shift_Ins_p.V212fs|CNNM2_uc001kwl.3_Frame_Shift_Ins_p.V212fs	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	212					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GTGGCGCCGTCGGGGGCAAGGG	0.703													G	104678875	-	G	104678874	7	5	74	1	0	1	1	0	0	0	0	0	3613	1116	39	0	639	0	CNNM2	10	104678874	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	288972	104678874	30855873	943	51214											
PDCD11	22984	broad.mit.edu	37	chr10	105172904	105172904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcctttgcgtccatcctcGaaccagagttgtgcacctga	8	14	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:105172904G>A	uc001kwy.1	+	9	1097	c.1010G>A	c.(1009-1011)CGA>CAA	p.R337Q		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	337	S1 motif 3.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTCCATCCTCGAACCAGAGTT	0.597													A	105172904	G	A	105172904	3	1	74	1	0	0	0	0	1	0	0	0	11617	1058	37	1	1040	1	PDCD11	10	105172904	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	494030	105172904	30361843	944	51215											
SLK	9748	broad.mit.edu	37	chr10	105758876	105758876	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttaattatctgtcttcataGgatggctcctgaagtagtca	8	7	4	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:105758876G>T	uc001kxo.1	+	6	622	c.588_splice	c.e6-1	p.W196_splice	SLK_uc001kxp.1_Splice_Site_p.W196_splice	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2						apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGTCTTCATAGGATGGCTCCT	0.343													T	105758876	G	T	105758876	5	4	74	1	0	0	0	0	0	0	1	0	14748	1014	35	5	609	5	SLK	10	105758876	Splice_Site	SNP	G	TCGA-BR-8361-01A-11D-2340-08	585972	105758876	29775871	945	51216											
SLK	9748	broad.mit.edu	37	chr10	105765439	105765439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccaaaactgaagaattgCggtttcttaggtgagtagag	11	5	1	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:105765439C>T	uc001kxo.1	+	10	2504	c.2470C>T	c.(2470-2472)CGG>TGG	p.R824W	SLK_uc001kxp.1_Missense_Mutation_p.R824W	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	824					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGAAGAATTGCGGTTTCTTAG	0.333													T	105765439	C	T	105765439	3	4	74	1	0	0	0	0	1	0	0	0	14748	759	27	1	2508	1	SLK	10	105765439	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	6563	105765439	29769308	946	51217											
COL17A1	1308	broad.mit.edu	37	chr10	105801069	105801069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggctctcacctggtgggCctcggggtcctggtgggcct	16	14	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:105801069C>T	uc001kxr.2	-	38	2808	c.2639G>A	c.(2638-2640)GGC>GAC	p.G880D		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	880	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACCTGGTGGGCCTCGGGGTCC	0.647													T	105801069	C	T	105801069	3	4	74	1	0	0	0	0	1	0	0	0	3674	739	26	2	1930	2	COL17A1	10	105801069	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	35630	105801069	29733678	947	51218											
ITPRIP	85450	broad.mit.edu	37	chr10	106074327	106074327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgaggggctcggccctgaGcacggcctcagggagtccca	16	13	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:106074327G>A	uc001kye.2	-	2	1556	c.1483C>T	c.(1483-1485)CTC>TTC	p.L495F	ITPRIP_uc001kyf.2_Missense_Mutation_p.L495F|ITPRIP_uc001kyg.2_Missense_Mutation_p.L495F	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-triphosphate receptor interacting	495						plasma membrane					0						TCGGCCCTGAGCACGGCCTCA	0.592													A	106074327	G	A	106074327	3	1	74	1	0	0	0	0	1	0	0	0	7923	971	34	2	164	2	ITPRIP	10	106074327	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	273258	106074327	29460420	948	51219											
CASP7	840	broad.mit.edu	37	chr10	115481532	115481532	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaagatgcaagatctgcttAaaaaaggtgagtgctgccag	11	8	1	3	rs72431166		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:115481532A>T	uc001lan.2	+	4	544	c.370A>T	c.(370-372)AAA>TAA	p.K124*	CASP7_uc001lam.2_Nonsense_Mutation_p.K124*|CASP7_uc001lao.2_Nonsense_Mutation_p.K157*|CASP7_uc001lap.2_Nonsense_Mutation_p.K124*|CASP7_uc001laq.2_Nonsense_Mutation_p.K124*|CASP7_uc010qsa.1_Nonsense_Mutation_p.K209*|CASP7_uc010qsb.1_Nonsense_Mutation_p.K99*	NM_033339	NP_203125	P55210	CASP7_HUMAN	caspase 7 isoform alpha	124					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		AGATCTGCTTAAAAAAGGTGA	0.269													T	115481532	A	T	115481532	4	4	74	1	0	0	0	0	0	1	0	0	2676	363	13	5	483	5	CASP7	10	115481532	Nonsense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	9407205	115481532	20053215	949	51220											
ADRB1	153	broad.mit.edu	37	chr10	115804937	115804937	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggccaacgtggtgaaggcctTccaccgcgagctggtgcccg	15	14	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:115804937T>A	uc001lba.2	+	1	1132	c.1046T>A	c.(1045-1047)TTC>TAC	p.F349Y		NM_000684	NP_000675	P08588	ADRB1_HUMAN	beta-1-adrenergic receptor	349	Helical; Name=6; (By similarity).				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	GTGAAGGCCTTCCACCGCGAG	0.642													A	115804937	T	A	115804937	3	1	74	1	0	0	0	0	1	0	0	0	340	1783	62	5	1048	5	ADRB1	10	115804937	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	323405	115804937	19729810	950	51221											
VWA2	340706	broad.mit.edu	37	chr10	116045994	116045994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgcggcaggcggcagagCgtggcttcgggagcgccacc	17	14	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:116045994C>T	uc001lbl.1	+	11	1615	c.1294C>T	c.(1294-1296)CGT>TGT	p.R432C	VWA2_uc001lbk.1_Missense_Mutation_p.R432C|VWA2_uc009xyf.1_Missense_Mutation_p.R128C	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	432	VWFA 2.					extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)		GGCGGCAGAGCGTGGCTTCGG	0.662													T	116045994	C	T	116045994	3	4	74	1	0	0	0	0	1	0	0	0	17236	768	27	1	1332	1	VWA2	10	116045994	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	241057	116045994	19488753	951	51222											
C10orf119	79892	broad.mit.edu	37	chr10	121595140	121595140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcacggaaggcagcaccGctgagagaaggctgttcatg	14	10	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:121595140G>A	uc001ler.2	-	14	1923	c.1625C>T	c.(1624-1626)GCG>GTG	p.A542V	C10orf119_uc001leq.1_Missense_Mutation_p.A367V|C10orf119_uc001les.1_Missense_Mutation_p.A367V	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN	chromosome 10 open reading frame 119	542					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding				0		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.0044)		AGGCAGCACCGCTGAGAGAAG	0.438													A	121595140	G	A	121595140	3	1	74	1	0	0	0	0	1	0	0	0	1588	1087	38	1	315	1	C10orf119	10	121595140	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	5549146	121595140	13939607	952	51223											
C10orf120	399814	broad.mit.edu	37	chr10	124457678	124457678	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcccaccccagacagaaaTgaggagcgtgtaaacctttc	10	12	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:124457678T>C	uc001lgn.2	-	3	611	c.579A>G	c.(577-579)TCA>TCG	p.S193S		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	hypothetical protein LOC399814	193										kidney(1)	1		all_neural(114;0.169)|Glioma(114;0.222)				CAGACAGAAATGAGGAGCGTG	0.478													C	124457678	T	C	124457678	2	2	74	1	0	0	0	0	0	0	0	1	1590	1451	51	3		3	C10orf120	10	124457678	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	2862538	124457678	11077069	953	51224											
ACADSB	36	broad.mit.edu	37	chr10	124797336	124797336	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aattcgaaaatggagaaatcAgtaatacaaggattatttca	7	4	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:124797336A>C	uc001lhb.2	+	3	393	c.276A>C	c.(274-276)TCA>TCC	p.S92S	ACADSB_uc010qub.1_Intron	NM_001609	NP_001600	P45954	ACDSB_HUMAN	acyl-Coenzyme A dehydrogenase, short/branched	92					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	TGGAGAAATCAGTAATACAAG	0.313													C	124797336	A	C	124797336	2	2	74	1	0	0	0	0	0	0	0	1	115	175	7	5		5	ACADSB	10	124797336	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	339658	124797336	10737411	954	51225											
C10orf137	26098	broad.mit.edu	37	chr10	127412385	127412385	+	Frame_Shift_Del	DEL	A	A	-													tcttaattttttaagaacatAaaaaaactcctgaaaattcc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:127412385delA	uc001liq.1	+	4	683	c.390delA	c.(388-390)ATAfs	p.I130fs	C10orf137_uc001lin.2_Frame_Shift_Del_p.I130fs|C10orf137_uc001lio.1_Frame_Shift_Del_p.I130fs|C10orf137_uc001lip.1_5'UTR	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTAAGAACATAAAAAAACTCC	0.323													-	127412385	A	-	127412385	7	5	74	1	0	1	0	1	0	0	0	0	1594	352	13	0	404	0	C10orf137	10	127412385	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	2615049	127412385	8122362	955	51226											
UROS	7390	broad.mit.edu	37	chr10	127483544	127483544	+	Frame_Shift_Del	DEL	C	C	-													aaatgtgatgctggctggaaCcccctgtggggaacagaaaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:127483544delC	uc001liw.3	-	8	698	c.565delG	c.(565-567)GTTfs	p.V189fs	UROS_uc001liv.3_Frame_Shift_Del_p.V70fs|UROS_uc010quh.1_RNA|UROS_uc001lix.3_Frame_Shift_Del_p.V189fs|UROS_uc001liy.3_RNA	NM_000375	NP_000366	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	189					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity				0		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				CTGGCTGGAACCCCCTGTGGG	0.483													-	127483544	C	-	127483544	7	5	74	1	0	1	0	1	0	0	0	0	17027	507	18	0	240	0	UROS	10	127483544	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	71159	127483544	8051203	956	51227											
DHX32	55760	broad.mit.edu	37	chr10	127548546	127548546	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catatcatcagtacaataccTataaagaagaaacattaaag	4	7	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:127548546T>C	uc001ljf.1	-	3	968	c.477_splice	c.e3-1	p.R159_splice	DHX32_uc001ljg.1_Splice_Site_p.R159_splice|DHX32_uc009yam.1_Splice_Site	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32							mitochondrion|nucleus	ATP binding|helicase activity			breast(2)|ovary(1)|lung(1)	4		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GTACAATACCTATAAAGAAGA	0.313													C	127548546	T	C	127548546	5	2	74	1	0	0	0	0	0	0	1	0	4505	1536	53	3	1792	3	DHX32	10	127548546	Splice_Site	SNP	T	TCGA-BR-8361-01A-11D-2340-08	65002	127548546	7986201	957	51228											
FOXI2	399823	broad.mit.edu	37	chr10	129536879	129536879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggagagctgaagccagcGcggccgtgcgctcgggagcc	18	12	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:129536879G>A	uc009yas.2	+	2	607	c.607G>A	c.(607-609)GCG>ACG	p.A203T	uc009yar.1_5'Flank	NM_207426	NP_997309	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	203					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				TGAAGCCAGCGCGGCCGTGCG	0.662													A	129536879	G	A	129536879	3	1	74	1	0	0	0	0	1	0	0	0	6010	1087	38	1	613	1	FOXI2	10	129536879	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1988333	129536879	5997868	958	51229											
MKI67	4288	broad.mit.edu	37	chr10	129905112	129905113	+	Frame_Shift_Ins	INS	-	-	TG													taccatctcctgttggctctINSgtgtgtgtgtgtgtagtctc					rs145960091	by1000genomes	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:129905111_129905112C>CTG	uc001lke.3	-	12	5187_5188	c.4992_4993G>CAG	c.(4990-4995)acagagfs	p.T1664fs	MKI67_uc001lkf.3_Frame_Shift_Ins_p.T1304fs|MKI67_uc009yav.1_Frame_Shift_Ins_p.T1239fs|MKI67_uc009yaw.1_Frame_Shift_Ins_p.T814fs	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1664	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTGTTGGCTCTGTGTGTGTGT	0.51													TG	129905113	-	TG	129905112	7	5	74	1	0	1	1	0	0	0	0	0	9598	1567	55	0	4790	0	MKI67	10	129905112	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	368233	129905112	5629635	959	51230											
EBF3	253738	broad.mit.edu	37	chr10	131761751	131761751	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccggaggttggaaggcggCtgcttctcgaagtgcgcccg	16	11	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:131761751C>T	uc001lki.1	-	2	230	c.171G>A	c.(169-171)CAG>CAA	p.Q57Q	EBF3_uc010qur.1_Silent_p.Q43Q	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	57					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGGAAGGCGGCTGCTTCTCGA	0.537													T	131761751	C	T	131761751	2	4	74	1	0	0	0	0	0	0	0	1	4882	796	28	2		2	EBF3	10	131761751	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1856639	131761751	3772996	960	51231											
NKX6-2	84504	broad.mit.edu	37	chr10	134598879	134598879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgaaggttttctccagcgCgaagatctgctggcccgaga	12	12	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr10:134598879C>T	uc001llr.2	-	2	569	c.484G>A	c.(484-486)GCG>ACG	p.A162T		NM_177400	NP_796374	Q9C056	NKX62_HUMAN	NK6 transcription factor related, locus 2	162	Homeobox.					nucleus	sequence-specific DNA binding transcription factor activity				0		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		TTCTCCAGCGCGAAGATCTGC	0.677													T	134598879	C	T	134598879	3	4	74	1	0	0	0	0	1	0	0	0	10458	768	27	1	357	1	NKX6-2	10	134598879	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2837128	134598879	935868	961	51232											
ANO9	338440	broad.mit.edu	37	chr11	431745	431745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtctccaccgcgcccacGtcttcttcaggcgtccctcc	8	19	4	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:431745G>A	uc001lpi.2	-	7	573	c.488C>T	c.(487-489)ACG>ATG	p.T163M	ANO9_uc001lph.2_5'Flank|ANO9_uc010qvv.1_Missense_Mutation_p.T19M	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	163	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						CCGCGCCCACGTCTTCTTCAG	0.672													A	431745	G	A	431745	3	1	74	1	0	0	0	0	1	0	0	0	704	1145	40	1	1928	1	ANO9	11	431745	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08		431745	134574771	962	51233											
PTDSS2	81490	broad.mit.edu	37	chr11	490558	490558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcctggggtggccgagggCgagggagcaccaactccaaa	18	11	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:490558C>T	uc001lpj.2	+	12	1616	c.1440C>T	c.(1438-1440)GGC>GGT	p.G480G		NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	480	Cytoplasmic (Potential).					integral to membrane					0		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	TGGCCGAGGGCGAGGGAGCAC	0.682													T	490558	C	T	490558	2	4	74	1	0	0	0	0	0	0	0	1	12737	755	27	1		1	PTDSS2	11	490558	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	58813	490558	134515958	963	51234											
RNH1	6050	broad.mit.edu	37	chr11	499909	499909	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcccccaagaggttgtcGctgaggtgcagctcctgcag	13	13	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:499909G>A	uc001lpk.1	-	3	1771	c.363C>T	c.(361-363)AGC>AGT	p.S121S	RNH1_uc001lpl.1_Silent_p.S121S|RNH1_uc001lpm.1_Silent_p.S121S|RNH1_uc001lpn.1_Silent_p.S121S|RNH1_uc001lpo.1_Silent_p.S121S|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Silent_p.S121S|RNH1_uc001lpt.1_5'UTR|RNH1_uc001lpq.1_Silent_p.S121S|RNH1_uc001lpr.1_Silent_p.S121S|RNH1_uc001lps.1_Silent_p.S121S|RNH1_uc009ybx.1_3'UTR	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	121	LRR 4.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGAGGTTGTCGCTGAGGTGCA	0.662													A	499909	G	A	499909	2	1	74	1	0	0	0	0	0	0	0	1	13504	1078	38	1		1	RNH1	11	499909	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	9351	499909	134506607	964	51235											
CEND1	51286	broad.mit.edu	37	chr11	788286	788286	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctccgccccgtccccAggacccttgggctccggggt	11	19	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:788286A>G	uc001lrh.1	-	2	470	c.291T>C	c.(289-291)CCT>CCC	p.P97P		NM_016564	NP_057648	Q8N111	CEND_HUMAN	cell cycle exit and neuronal differentiation 1	97	Cytoplasmic (Potential).					integral to membrane					0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCGTCCCCAGGACCCTTGG	0.692													G	788286	A	G	788286	2	3	74	1	0	0	0	0	0	0	0	1	3225	175	7	3		3	CEND1	11	788286	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	288377	788286	134218230	965	51236											
AP2A2	161	broad.mit.edu	37	chr11	972112	972112	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaacagtgagctgatccgCctgatcaacaacgccatcaa	7	13	3	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:972112C>T	uc001lss.2	+	4	511	c.330C>T	c.(328-330)CGC>CGT	p.R110R	AP2A2_uc001lst.1_Silent_p.R110R|AP2A2_uc009yco.1_RNA|AP2A2_uc001lsu.1_5'UTR	NM_012305	NP_036437	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2	110					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCTGATCCGCCTGATCAACA	0.557													T	972112	C	T	972112	2	4	74	1	0	0	0	0	0	0	0	1	740	726	26	2		2	AP2A2	11	972112	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	183826	972112	134034404	966	51237											
MUC6	4588	broad.mit.edu	37	chr11	1023607	1023607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgtgtactggtactcgCcatggccgtcctgcgtgtgc	13	13	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:1023607C>T	uc001lsw.2	-	26	3479	c.3428G>A	c.(3427-3429)GGC>GAC	p.G1143D		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1143					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGTACTCGCCATGGCCGTC	0.647													T	1023607	C	T	1023607	3	4	74	1	0	0	0	0	1	0	0	0	9980	739	26	2	3923	2	MUC6	11	1023607	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	51495	1023607	133982909	967	51238											
MUC6	4588	broad.mit.edu	37	chr11	1027295	1027296	+	Frame_Shift_Ins	INS	-	-	TGCT													gccgttgatgacagtggactINSgctcggccaggatgaacttg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:1027294_1027295C>CTGCT	uc001lsw.2	-	16	2255_2256	c.2204_2205G>AGCAG	c.(2203-2205)cagfs	p.Q735fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	735					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGACAGTGGACTGCTCGGCCAG	0.644													TGCT	1027296	-	TGCT	1027295	7	5	74	1	0	1	1	0	0	0	0	0	9980	1580	55	0	5183	0	MUC6	11	1027295	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	3688	1027295	133979221	968	51239											
BRSK2	9024	broad.mit.edu	37	chr11	1475826	1475826	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaaggctgacatcgtgcaCgccttcctgtcggtgaggcc	12	13	1	2	rs147039698	by1000genomes	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:1475826C>T	uc001lti.2	+	16	2042	c.1656C>T	c.(1654-1656)CAC>CAT	p.H552H	BRSK2_uc009ycv.1_Silent_p.H574H|BRSK2_uc001lth.1_Silent_p.H552H|BRSK2_uc001ltj.2_Silent_p.H552H|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Silent_p.H552H|BRSK2_uc001ltm.2_Silent_p.H598H|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA|BRSK2_uc009ycw.2_Silent_p.H48H	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	552					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		ACATCGTGCACGCCTTCCTGT	0.612													T	1475826	C	T	1475826	2	4	74	1	0	0	0	0	0	0	0	1	1524	535	19	1		1	BRSK2	11	1475826	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	448531	1475826	133530690	969	51240											
CHRNA10	57053	broad.mit.edu	37	chr11	3688986	3688986	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcggaacctggaggctgcGcgtcggctctgggggcaggc	20	11	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:3688986G>T	uc001lyf.2	-	4	443	c.371C>A	c.(370-372)GCG>GAG	p.A124E	CHRNA10_uc010qxt.1_5'UTR|CHRNA10_uc010qxu.1_5'UTR	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10	124	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			ovary(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	TGGAGGCTGCGCGTCGGCTCT	0.746													T	3688986	G	T	3688986	3	4	74	1	0	0	0	0	1	0	0	0	3382	1087	38	5	989	5	CHRNA10	11	3688986	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2213160	3688986	131317530	970	51241											
RHOG	391	broad.mit.edu	37	chr11	3849264	3849264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgtaattgtcgaacacGgtggggatgtactctttggg	15	7	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:3849264G>A	uc001lyu.2	-	2	263	c.105C>T	c.(103-105)ACC>ACT	p.T35T		NM_001665	NP_001656	P84095	RHOG_HUMAN	ras homolog gene family, member G precursor	35	Effector region (Potential).				actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		TGTCGAACACGGTGGGGATGT	0.587													A	3849264	G	A	3849264	2	1	74	1	0	0	0	0	0	0	0	1	13339	1103	39	1		1	RHOG	11	3849264	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	160278	3849264	131157252	971	51242											
TRIM68	55128	broad.mit.edu	37	chr11	4621595	4621595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaaaatagggcaggaggcGcccagggaagggatagcggg	18	7	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:4621595G>A	uc001lzf.1	-	7	1607	c.1369C>T	c.(1369-1371)CGC>TGC	p.R457C	TRIM68_uc001lzg.1_Missense_Mutation_p.R234C|TRIM68_uc010qyj.1_RNA	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	ring finger protein 137	457	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGCAGGAGGCGCCCAGGGAAG	0.522													A	4621595	G	A	4621595	3	1	74	1	0	0	0	0	1	0	0	0	16538	1087	38	1	92	1	TRIM68	11	4621595	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	772331	4621595	130384921	972	51243											
OR51S1	119692	broad.mit.edu	37	chr11	4869948	4869948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaatggcaggggcagaTggagacccaggcatcgaaaa	16	8	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:4869948T>C	uc010qyo.1	-	1	491	c.491A>G	c.(490-492)CAT>CGT	p.H164R		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	164	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGGGCAGATGGAGACCCAG	0.557													C	4869948	T	C	4869948	3	2	74	1	0	0	0	0	1	0	0	0	11105	1464	51	3	483	3	OR51S1	11	4869948	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	248353	4869948	130136568	973	51244											
OR51T1	401665	broad.mit.edu	37	chr11	4903424	4903424	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagatcagctttaaagctTgcttcattcaaatgttcttt	8	7	4	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:4903424T>G	uc010qyp.1	+	1	376	c.376T>G	c.(376-378)TGC>GGC	p.C126G		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T,	99	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTTAAAGCTTGCTTCATTCA	0.507													G	4903424	T	G	4903424	3	3	74	1	0	0	0	0	1	0	0	0	11106	1812	63	5	378	5	OR51T1	11	4903424	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	33476	4903424	130103092	974	51245											
OR51M1	390059	broad.mit.edu	37	chr11	5411061	5411061	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgccaccctctgaggtatTcggtcattatcactggccag	9	13	4	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:5411061T>A	uc010qzc.1	+	1	433	c.433T>A	c.(433-435)TCG>ACG	p.S145T	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M,	145						integral to membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGAGGTATTCGGTCATTAT	0.527													A	5411061	T	A	5411061	3	1	74	1	0	0	0	0	1	0	0	0	11103	1783	62	5	435	5	OR51M1	11	5411061	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	507637	5411061	129595455	975	51246											
CNGA4	1262	broad.mit.edu	37	chr11	6265379	6265379	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcagctgagatcgccctgCaggaggccacagagtcccgg	15	13	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:6265379C>T	uc001mco.2	+	6	1575	c.1468C>T	c.(1468-1470)CAG>TAG	p.Q490*	CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	490	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATCGCCCTGCAGGAGGCCAC	0.562													T	6265379	C	T	6265379	4	4	74	1	0	0	0	0	0	1	0	0	3599	711	25	2	1490	2	CNGA4	11	6265379	Nonsense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	854318	6265379	128741137	976	51247											
TRIM3	10612	broad.mit.edu	37	chr11	6471805	6471805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgaatggttatggaagtcCgttactacaatttcattctt	7	7	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:6471805C>T	uc001mdh.2	-	11	2304	c.1917G>A	c.(1915-1917)ACG>ACA	p.T639T	TRIM3_uc001mdi.2_Silent_p.T639T|TRIM3_uc010raj.1_Silent_p.T520T|TRIM3_uc009yfd.2_Silent_p.T639T|TRIM3_uc010rak.1_Silent_p.T639T	NM_006458	NP_006449	O75382	TRIM3_HUMAN	tripartite motif-containing 3	639	NHL 4.				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGGAAGTCCGTTACTACAA	0.478													T	6471805	C	T	6471805	2	4	74	1	0	0	0	0	0	0	0	1	16501	639	23	1		1	TRIM3	11	6471805	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	206426	6471805	128534711	977	51248											
DCHS1	8642	broad.mit.edu	37	chr11	6662142	6662142	+	Frame_Shift_Del	DEL	G	G	-													cagcagggcctgggccctccGggggggtgaaccaccatcat					rs143767864	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:6662141_6662141CG>C	uc001mem.1	-	1	1105	c.704_704CG>G	c.(703-705)cggfs	p.R235fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGA	0.587													-	6662142	G	-	6662142	7	5	74	1	0	1	0	1	0	0	0	0	4287	1115	39	0	9273	0	DCHS1	11	6662142	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	190337	6662142	128344374	978	51249											
OR5P3	120066	broad.mit.edu	37	chr11	7846993	7846993	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatagtcacagaaaaagTgattgactttatttggccca	9	6	1	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:7846993T>C	uc010rbg.1	-	1	527	c.527A>G	c.(526-528)CAC>CGC	p.H176R		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P,	176	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACAGAAAAAGTGATTGACTTT	0.408													C	7846993	T	C	7846993	3	2	74	1	0	0	0	0	1	0	0	0	11179	1696	59	3	411	3	OR5P3	11	7846993	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	1184851	7846993	127159523	979	51250											
DENND5A	23258	broad.mit.edu	37	chr11	9167297	9167297	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctgatatacagatccatgGgttggcagtgaacatggagc	12	8	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:9167297G>T	uc001mhl.2	-	17	3178	c.2923C>A	c.(2923-2925)CCA>ACA	p.P975T	DENND5A_uc001mhk.2_Missense_Mutation_p.P318T|DENND5A_uc010rbw.1_Missense_Mutation_p.P975T|DENND5A_uc010rbx.1_RNA	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	975	PLAT.									liver(1)	1						CAGATCCATGGGTTGGCAGTG	0.483													T	9167297	G	T	9167297	3	4	74	1	0	0	0	0	1	0	0	0	4436	1232	43	5	968	5	DENND5A	11	9167297	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1320304	9167297	125839219	980	51251											
MRVI1	10335	broad.mit.edu	37	chr11	10615133	10615133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagcaacgctgaccctcCggcgaggcatattctgcagg	11	15	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:10615133C>T	uc010rcc.1	-	17	2467	c.2081G>A	c.(2080-2082)CGG>CAG	p.R694Q	uc001miu.2_Intron|MRVI1_uc001miw.2_Missense_Mutation_p.R685Q|MRVI1_uc010rcb.1_Missense_Mutation_p.R686Q|MRVI1_uc009ygb.1_Missense_Mutation_p.R379Q|MRVI1_uc001mix.2_Missense_Mutation_p.R379Q|MRVI1_uc001miz.2_Missense_Mutation_p.R603Q|MRVI1_uc009ygc.1_Missense_Mutation_p.R603Q|MRVI1_uc010rcd.1_Missense_Mutation_p.R488Q|MRVI1_uc009ygd.1_Missense_Mutation_p.R379Q|MRVI1_uc010rce.1_RNA	NM_001100167	NP_001093637	Q9Y6F6	MRVI1_HUMAN	JAW1-related protein isoform c	667					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				ovary(2)|central_nervous_system(1)	3				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GCTGACCCTCCGGCGAGGCAT	0.517													T	10615133	C	T	10615133	3	4	74	1	0	0	0	0	1	0	0	0	9853	652	23	1	677	1	MRVI1	11	10615133	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1447836	10615133	124391383	981	51252											
GALNTL4	374378	broad.mit.edu	37	chr11	11292743	11292743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctccagtgctggcccgagCacttctgcaacaccagctgg	11	15	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:11292743C>T	uc001mjo.2	-	11	2193	c.1772G>A	c.(1771-1773)TGC>TAC	p.C591Y		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	591	Lumenal (Potential).|Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		CTGGCCCGAGCACTTCTGCAA	0.617													T	11292743	C	T	11292743	3	4	74	1	0	0	0	0	1	0	0	0	6223	710	25	2	55	2	GALNTL4	11	11292743	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	677610	11292743	123713773	982	51253											
USP47	55031	broad.mit.edu	37	chr11	11974417	11974417	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggacgaattgcgagagaAggtaagttcattttaaacaa	11	4	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:11974417A>C	uc001mjs.2	+	25	4476	c.3713A>C	c.(3712-3714)AAG>ACG	p.K1238T	USP47_uc001mjr.2_Missense_Mutation_p.K1170T|USP47_uc009ygi.2_Missense_Mutation_p.K40T	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	1258					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			ovary(1)|skin(1)	2				Epithelial(150;0.000339)		TTGCGAGAGAAGGTAAGTTCA	0.333													C	11974417	A	C	11974417	3	2	74	1	0	0	0	0	1	0	0	0	17075	86	3	5	3603	5	USP47	11	11974417	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	681674	11974417	123032099	983	51254											
MICAL2	9645	broad.mit.edu	37	chr11	12241975	12241975	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggcaggcgcaccagctgctCgtggcccttgtgggtgacag	16	13	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:12241975C>T	uc001mjz.2	+	9	1464	c.1176C>T	c.(1174-1176)CTC>CTT	p.L392L	MICAL2_uc010rch.1_Silent_p.L392L|MICAL2_uc001mka.2_Silent_p.L392L|MICAL2_uc010rci.1_Silent_p.L392L|MICAL2_uc001mkb.2_Silent_p.L392L|MICAL2_uc001mkc.2_Silent_p.L392L|MICAL2_uc001mkd.2_Silent_p.L221L|MICAL2_uc010rcj.1_5'Flank	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	392						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		ACCAGCTGCTCGTGGCCCTTG	0.597													T	12241975	C	T	12241975	2	4	74	1	0	0	0	0	0	0	0	1	9570	871	31	1		1	MICAL2	11	12241975	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	267558	12241975	122764541	984	51255											
ARNTL	406	broad.mit.edu	37	chr11	13399935	13399935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggattccagggggaacccGggctggggcaggaaaaatag	18	7	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:13399935G>A	uc001mkr.2	+	17	1874	c.1466G>A	c.(1465-1467)CGG>CAG	p.R489Q	ARNTL_uc001mko.2_Missense_Mutation_p.R445Q|ARNTL_uc001mkp.2_Missense_Mutation_p.R488Q|ARNTL_uc001mkq.2_Missense_Mutation_p.R488Q|ARNTL_uc001mks.2_Missense_Mutation_p.R446Q|ARNTL_uc001mkt.2_Missense_Mutation_p.R489Q|ARNTL_uc001mku.2_RNA|ARNTL_uc001mkw.2_Missense_Mutation_p.R446Q|ARNTL_uc001mkx.2_Missense_Mutation_p.R487Q|ARNTL_uc001mky.2_Missense_Mutation_p.R27Q	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	489					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0				Epithelial(150;0.0243)		GGGGGAACCCGGGCTGGGGCA	0.473													A	13399935	G	A	13399935	3	1	74	1	0	0	0	0	1	0	0	0	967	1116	39	1	1528	1	ARNTL	11	13399935	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1157960	13399935	121606581	985	51256											
PDE3B	5140	broad.mit.edu	37	chr11	14808095	14808095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagtcatttcctctctacGgagtattagtagcttaatgg	8	8	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:14808095G>A	uc001mln.2	+	3	1495	c.1142G>A	c.(1141-1143)CGG>CAG	p.R381Q	PDE3B_uc010rcr.1_Intron	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	381					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						TCCTCTCTACGGAGTATTAGT	0.438													A	14808095	G	A	14808095	3	1	74	1	0	0	0	0	1	0	0	0	11638	1116	39	1	1152	1	PDE3B	11	14808095	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1408160	14808095	120198421	986	51257											
ABCC8	6833	broad.mit.edu	37	chr11	17428576	17428576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgacaggagcaggatgccGgcggaggacaggtacttggc	17	9	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:17428576G>A	uc001mnc.2	-	25	3147	c.3021C>T	c.(3019-3021)GCC>GCT	p.A1007A		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1007	Helical; Name=12; (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GCAGGATGCCGGCGGAGGACA	0.627													A	17428576	G	A	17428576	2	1	74	1	0	0	0	0	0	0	0	1	58	1103	39	1		1	ABCC8	11	17428576	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2620481	17428576	117577940	987	51258											
USH1C	10083	broad.mit.edu	37	chr11	17547960	17547960	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctccttgttttcccgatttCcaggggagcccaggctgcct	10	14	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:17547960C>A	uc001mnf.2	-	8	717	c.608G>T	c.(607-609)GGA>GTA	p.G203V	USH1C_uc001mne.2_Missense_Mutation_p.G203V|USH1C_uc009yhb.2_Missense_Mutation_p.G203V|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.G167V	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	harmonin isoform a	203					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			ovary(1)	1						TTCCCGATTTCCAGGGGAGCC	0.597													A	17547960	C	A	17547960	3	1	74	1	0	0	0	0	1	0	0	0	17031	855	30	5	2249	5	USH1C	11	17547960	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	119384	17547960	117458556	988	51259											
USH1C	10083	broad.mit.edu	37	chr11	17547982	17547982	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggagcccaggctgcctcGcacgccctgaaagagagata	14	12	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:17547982G>A	uc001mnf.2	-	8	695	c.586C>T	c.(586-588)CGA>TGA	p.R196*	USH1C_uc001mne.2_Nonsense_Mutation_p.R196*|USH1C_uc009yhb.2_Nonsense_Mutation_p.R196*|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Nonsense_Mutation_p.R160*	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	harmonin isoform a	196					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			ovary(1)	1						AGGCTGCCTCGCACGCCCTGA	0.597													A	17547982	G	A	17547982	4	1	74	1	0	0	0	0	0	1	0	0	17031	1095	38	1	2271	1	USH1C	11	17547982	Nonsense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	22	17547982	117458534	989	51260											
SPTY2D1	144108	broad.mit.edu	37	chr11	18636421	18636421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtggactgctcacaggcCggccagggccacgagagctg	15	13	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:18636421C>T	uc001moy.2	-	3	1616	c.1400G>A	c.(1399-1401)CGG>CAG	p.R467Q	SPTY2D1_uc010rdi.1_Missense_Mutation_p.R467Q	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	467	Ser-rich.									breast(1)	1						GCTCACAGGCCGGCCAGGGCC	0.627													T	18636421	C	T	18636421	3	4	74	1	0	0	0	0	1	0	0	0	15125	652	23	1	673	1	SPTY2D1	11	18636421	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1088439	18636421	116370095	990	51261											
DBX1	120237	broad.mit.edu	37	chr11	20177966	20177966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgggccctcctcctcctcttCgttcccagggcccttctggc	9	20	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:20177966C>T	uc001mpw.1	-	4	943	c.943G>A	c.(943-945)GAA>AAA	p.E315K		NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	276	Poly-Glu.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TCCTCCTCTTCGTTCCCAGGG	0.726													T	20177966	C	T	20177966	3	4	74	1	0	0	0	0	1	0	0	0	4259	893	31	1	209	1	DBX1	11	20177966	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1541545	20177966	114828550	991	51262											
DBX1	120237	broad.mit.edu	37	chr11	20178193	20178193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgggggacgcacgggggCggggagtggagtcgggtgca	23	9	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:20178193C>T	uc001mpw.1	-	4	716	c.716G>A	c.(715-717)CGC>CAC	p.R239H		NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CGCACGGGGGCGGGGAGTGGA	0.652													T	20178193	C	T	20178193	3	4	74	1	0	0	0	0	1	0	0	0	4259	768	27	1	436	1	DBX1	11	20178193	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	227	20178193	114828323	992	51263											
BDNF	627	broad.mit.edu	37	chr11	27695724	27695724	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaagcgtgtgggtagacGccaaaacatgtgtggacctg	14	8	0	2	rs144776617	by1000genomes	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:27695724G>A	uc009yje.2	-	2	249	c.108C>T	c.(106-108)GGC>GGT	p.G36G	BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_Intron|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_Intron|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_Intron|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_Intron|BDNFOS_uc009yip.2_Intron|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_Intron|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_Intron|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_Intron|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_Intron|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_Intron|BDNFOS_uc009yiz.2_Intron|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_Intron|BDNF_uc010rdv.1_Intron|BDNF_uc001mrt.2_Intron|BDNF_uc010rdw.1_Intron|BDNF_uc009yjd.2_Intron|BDNF_uc001mru.2_Intron|BDNF_uc010rdx.1_Intron|BDNF_uc010rdy.1_Intron|BDNF_uc009yjg.2_5'UTR|BDNF_uc009yjf.2_Intron|BDNF_uc001mrv.2_Intron|BDNF_uc001mrw.3_Intron|BDNF_uc001mrx.2_Intron|BDNF_uc001mry.3_Intron|BDNF_uc001mrz.3_Intron|BDNF_uc001msa.2_Intron	NM_001143810	NP_001137282	P23560	BDNF_HUMAN	brain-derived neurotrophic factor isoform e	Error:Variant_position_missing_in_P23560_after_alignment						extracellular region	growth factor activity				0						GTGGGTAGACGCCAAAACATG	0.478													A	27695724	G	A	27695724	2	1	74	1	0	0	0	0	0	0	0	1	1394	1074	38	1		1	BDNF	11	27695724	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	7517531	27695724	107310792	993	51264											
PAX6	5080	broad.mit.edu	37	chr11	31812317	31812317	+	Frame_Shift_Del	DEL	G	G	-													tcatgtgtgtctgcatatgtGggggggtgtaggtatcataa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:31812316_31812316TG>T	uc009yjr.3	-	11	1594	c.1125_1125CA>A	c.(1123-1125)ccafs	p.P375fs	PAX6_uc001mtd.4_Frame_Shift_Del_p.P375fs|PAX6_uc001mte.4_Frame_Shift_Del_p.P375fs|PAX6_uc001mtg.4_Frame_Shift_Del_p.P389fs|PAX6_uc001mtf.4_Frame_Shift_Del_p.P375fs|PAX6_uc001mth.4_Frame_Shift_Del_p.P375fs|PAX6_uc021qfl.1_Frame_Shift_Del_p.P389fs|PAX6_uc021qfm.1_Frame_Shift_Del_p.P389fs	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGT	0.592									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				-	31812317	G	-	31812317	7	5	74	1	0	1	0	1	0	0	0	0	11483	1348	47	0	152	0	PAX6	11	31812317	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	4116593	31812317	103194199	994	51265											
PAX6	5080	broad.mit.edu	37	chr11	31824265	31824265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggatcacctgcagaattcggGaaatgtcgcacggccgggcc	14	12	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:31824265G>A	uc001mtd.3	-	4	1018	c.128C>T	c.(127-129)TCC>TTC	p.S43F	PAX6_uc001mte.3_Missense_Mutation_p.S43F|PAX6_uc001mtg.3_Missense_Mutation_p.S43F|PAX6_uc001mtf.3_Missense_Mutation_p.S43F|PAX6_uc001mth.3_Missense_Mutation_p.S43F|PAX6_uc009yjr.2_Missense_Mutation_p.S43F	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	43	Paired.		S -> P (in AN).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					CAGAATTCGGGAAATGTCGCA	0.637									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				A	31824265	G	A	31824265	3	1	74	1	0	0	0	0	1	0	0	0	11483	1174	41	4	1222	4	PAX6	11	31824265	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	11948	31824265	103182251	995	51266											
RCN1	5954	broad.mit.edu	37	chr11	32119957	32119957	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaaaaagatgctgccacgTgatgagagaagattcaaagc	10	6	1	5			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:32119957T>C	uc010reb.1	+	3	776	c.510T>C	c.(508-510)CGT>CGC	p.R170R	RCN1_uc010rea.1_Silent_p.R119R|RCN1_uc001mtk.2_Silent_p.R4R	NM_002901	NP_002892	Q15293	RCN1_HUMAN	reticulocalbin 1 precursor	170	EF-hand 3.					endoplasmic reticulum lumen	calcium ion binding			large_intestine(1)	1	Lung SC(675;0.225)					TGCTGCCACGTGATGAGAGAA	0.443													C	32119957	T	C	32119957	2	2	74	1	0	0	0	0	0	0	0	1	13179	1683	59	3		3	RCN1	11	32119957	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	295692	32119957	102886559	996	51267											
CSTF3	1479	broad.mit.edu	37	chr11	33106679	33106680	+	Frame_Shift_Ins	INS	-	-	G													tctgtaaatgtcatgaacagINSgggggacaacggctcccttt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:33106678_33106679A>AG	uc001muh.3	-	20	2274_2275	c.2108_2109T>CT	c.(2107-2109)cctfs	p.P703fs	TCP11L1_uc001muf.1_Non-coding_Transcript	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa (CSTF3), transcript variant 1, mRNA.	703					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TGTCATGAACAGGGGGGACAAC	0.52													G	33106680	-	G	33106679	7	5	74	1	0	1	1	0	0	0	0	0	3986	1000	35	0	49	0	CSTF3	11	33106679	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	986722	33106679	101899837	997	51268											
CSTF3	1479	broad.mit.edu	37	chr11	33129474	33129474	+	Frame_Shift_Del	DEL	T	T	-													acttggtagtttacccttggTttctcggacatatgaaagat							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:33129474delT	uc001muh.2	-	5	497	c.331delA	c.(331-333)ACCfs	p.T111fs		NM_001326	NP_001317	Q12996	CSTF3_HUMAN	cleavage stimulation factor subunit 3 isoform 1	111					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding				0						TTACCCTTGGTTTCTCGGACA	0.358													-	33129474	T	-	33129474	7	5	74	1	0	1	0	1	0	0	0	0	3986	1725	60	0	1890	0	CSTF3	11	33129474	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	22795	33129474	101877042	998	51269											
HIPK3	10114	broad.mit.edu	37	chr11	33350149	33350149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattatttcttggatggccGctctacccaggagccttgga	11	10	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:33350149G>A	uc001mul.1	+	3	1461	c.1191G>A	c.(1189-1191)CCG>CCA	p.P397P	HIPK3_uc001mum.1_Silent_p.P397P|HIPK3_uc009yjv.1_Silent_p.P397P|HIPK3_uc009yjw.1_RNA	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	397	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						TTGGATGGCCGCTCTACCCAG	0.378													A	33350149	G	A	33350149	2	1	74	1	0	0	0	0	0	0	0	1	7118	1074	38	1		1	HIPK3	11	33350149	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	220675	33350149	101656367	999	51270											
TRAF6	7189	broad.mit.edu	37	chr11	36511764	36511764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcacagcgctgagcagtcGgtaactgaaggtgcaagcgc	14	10	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:36511764G>A	uc001mwr.1	-	8	1533	c.1193C>T	c.(1192-1194)CCG>CTG	p.P398L	uc001mwq.1_5'Flank|TRAF6_uc001mws.1_Missense_Mutation_p.P398L	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6	398	MATH.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)				CTGAGCAGTCGGTAACTGAAG	0.488													A	36511764	G	A	36511764	3	1	74	1	0	0	0	0	1	0	0	0	16442	1116	39	1	379	1	TRAF6	11	36511764	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	3161615	36511764	98494752	1000	51271											
RAG1	5896	broad.mit.edu	37	chr11	36597479	36597479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgtgagttaattccttcCgaggagaggcacgaggctct	13	8	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:36597479C>T	uc001mwu.3	+	2	2749	c.2625C>T	c.(2623-2625)TCC>TCT	p.S875S	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	875					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				TAATTCCTTCCGAGGAGAGGC	0.483									Familial_Hemophagocytic_Lymphohistiocytosis				T	36597479	C	T	36597479	2	4	74	1	0	0	0	0	0	0	0	1	13003	639	23	1		1	RAG1	11	36597479	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	85715	36597479	98409037	1001	51272											
API5	8539	broad.mit.edu	37	chr11	43350436	43350437	+	Frame_Shift_Ins	INS	-	-	A													agaaaagctcaaagatttcaINSaaatcaggtgatatatgatt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:43350435_43350436C>CA	uc010rfh.1	+	8	1292_1293	c.1119_1120C>CA	c.(1117-1122)ttcaaafs	p.F373fs	API5_uc001mxf.2_Frame_Shift_Ins_p.F373fs|API5_uc010rfg.1_Frame_Shift_Ins_p.F362fs|API5_uc010rfi.1_Frame_Shift_Ins_p.F319fs|API5_uc021qgi.1_Frame_Shift_Ins_p.F200fs|API5_uc001mxg.3_Frame_Shift_Ins_p.F247fs	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	Homo sapiens apoptosis inhibitor 5 (API5), transcript variant 1, mRNA.	373	Leucine-zipper.				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						TCAAAGATTTCAAAATCAGGTG	0.411													A	43350437	-	A	43350436	7	5	74	1	0	1	1	0	0	0	0	0	773	131	5	0	1154	0	API5	11	43350436	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	6752957	43350436	91656080	1002	51273											
DGKZ	8525	broad.mit.edu	37	chr11	46393275	46393276	+	Frame_Shift_Ins	INS	-	-	C													tactctgaaagcaagcaagaINSagaagaagagggcatccttc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:46393274_46393275G>GC	uc001ncn.1	+	9	1469_1470	c.1344_1345G>GC	c.(1342-1347)aagaagfs	p.K448fs	DGKZ_uc001nch.2_Frame_Shift_Ins_p.K276fs|DGKZ_uc010rgq.2_Frame_Shift_Ins_p.K242fs|DGKZ_uc010rgr.2_Frame_Shift_Ins_p.K264fs|DGKZ_uc001ncj.2_Frame_Shift_Ins_p.K226fs|DGKZ_uc001nck.2_Frame_Shift_Ins_p.K38fs|DGKZ_uc001ncm.2_Frame_Shift_Ins_p.K259fs|DGKZ_uc001ncl.2_Frame_Shift_Ins_p.K260fs|DGKZ_uc009yky.1_Frame_Shift_Ins_p.K260fs|DGKZ_uc010rgs.1_Frame_Shift_Ins_p.K237fs	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	448	MARCKS homology.|Poly-Lys.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		AAGCAAGCAAGAAGAAGAAGAG	0.599													C	46393276	-	C	46393275	7	5	74	1	0	1	1	0	0	0	0	0	4474	247	9	0	1826	0	DGKZ	11	46393275	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	3042839	46393275	88613241	1003	51274											
KBTBD4	55709	broad.mit.edu	37	chr11	47594872	47594872	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttggtaaagaagtccagAtcattctcctccccccctag	8	13	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:47594872A>G	uc001nfx.2	-	4	1338	c.1167T>C	c.(1165-1167)GAT>GAC	p.D389D	PTPMT1_uc001nfs.3_3'UTR|PTPMT1_uc001nfv.3_3'UTR|PTPMT1_uc009ylt.2_3'UTR|PTPMT1_uc001nfu.3_3'UTR|NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Silent_p.D414D|KBTBD4_uc001nfz.2_Silent_p.D405D|KBTBD4_uc001nfy.2_Silent_p.D389D	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	389	Kelch 4.									ovary(1)|central_nervous_system(1)	2						AGAAGTCCAGATCATTCTCCT	0.532													G	47594872	A	G	47594872	2	3	74	1	0	0	0	0	0	0	0	1	7995	330	12	3		3	KBTBD4	11	47594872	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1201597	47594872	87411644	1004	51275											
NDUFS3	4722	broad.mit.edu	37	chr11	47600835	47600835	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagggactgggcgacccTccgttctgttgctgccggtg	16	12	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:47600835T>C	uc001nga.2	+	2	164	c.82T>C	c.(82-84)TCC>CCC	p.S28P	NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_5'Flank|KBTBD4_uc001nfx.2_5'Flank|KBTBD4_uc001nfz.2_5'Flank|KBTBD4_uc001nfy.2_5'Flank|NDUFS3_uc010rhn.1_Missense_Mutation_p.S28P	NM_004551	NP_004542	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3	28					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding				0					NADH(DB00157)	TGGGCGACCCTCCGTTCTGTT	0.692													C	47600835	T	C	47600835	3	2	74	1	0	0	0	0	1	0	0	0	10293	1551	54	3	88	3	NDUFS3	11	47600835	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	5963	47600835	87405681	1005	51276											
NUP160	23279	broad.mit.edu	37	chr11	47825038	47825038	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caccttcccagcataaatcgAcaggaaccaacattgacttg	6	13	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:47825038A>T	uc001ngm.2	-	22	2812	c.2727T>A	c.(2725-2727)TGT>TGA	p.C909*	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	909					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						GCATAAATCGACAGGAACCAA	0.358													T	47825038	A	T	47825038	4	4	74	1	0	0	0	0	0	1	0	0	10757	273	10	5	1643	5	NUP160	11	47825038	Nonsense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	224203	47825038	87181478	1006	51277											
NUP160	23279	broad.mit.edu	37	chr11	47837094	47837094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcaagagggtgagagagGgcttcttgatactgaagaca	16	5	1	6			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:47837094G>A	uc001ngm.2	-	13	1708	c.1623C>T	c.(1621-1623)GCC>GCT	p.A541A	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	541					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						GGTGAGAGAGGGCTTCTTGAT	0.423													A	47837094	G	A	47837094	2	1	74	1	0	0	0	0	0	0	0	1	10757	1219	43	4		4	NUP160	11	47837094	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	12056	47837094	87169422	1007	51278											
OR4C46	119749	broad.mit.edu	37	chr11	51515366	51515366	+	Frame_Shift_Del	DEL	T	T	-													agaaaatcatatttgttgtgTtttttgtcatctatatcatc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:51515365_51515365GT>G	uc010ric.2	+	0	84	c.84_84GT>G	c.(82-84)gtgfs	p.V28fs		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TATTTGTTGTGTTTTTTGTCA	0.428													-	51515366	T	-	51515366	7	5	74	1	0	1	0	1	0	0	0	0	11051	1725	60	0	87	0	OR4C46	11	51515366	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	3678272	51515366	83491150	1008	51279											
RTN4RL2	349667	broad.mit.edu	37	chr11	57235092	57235092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccacagctcccgcctcGgcctgcctcctgctgatgct	8	21	0	1	rs143661405	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:57235092G>A	uc010rjt.1	+	2	42	c.42G>A	c.(40-42)TCG>TCA	p.S14S		NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2 precursor	14					axon regeneration	anchored to plasma membrane	receptor activity				0						CTCCCGCCTCGGCCTGCCTCC	0.682													A	57235092	G	A	57235092	2	1	74	1	0	0	0	0	0	0	0	1	13732	1103	39	1		1	RTN4RL2	11	57235092	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	5719726	57235092	77771424	1009	51280											
TMX2	51075	broad.mit.edu	37	chr11	57480227	57480227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaaactgccgccgctctGccacggtctgcccacccaac	10	18	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:57480227G>A	uc001nlc.1	+	1	186	c.137G>A	c.(136-138)TGC>TAC	p.C46Y	CTNND1_uc001nlf.1_5'UTR|MED19_uc001nla.1_5'Flank|MED19_uc001nlb.2_5'Flank|TMX2_uc001nld.1_5'UTR|TMX2_uc001nle.1_Missense_Mutation_p.C46Y	NM_015959	NP_057043	Q9Y320	TMX2_HUMAN	thioredoxin domain containing 14 isoform 1	46					cell redox homeostasis	integral to membrane					0						CCGCCGCTCTGCCACGGTCTG	0.627													A	57480227	G	A	57480227	3	1	74	1	0	0	0	0	1	0	0	0	16264	1319	46	2	139	2	TMX2	11	57480227	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	245135	57480227	77526289	1010	51281											
OR9Q2	219957	broad.mit.edu	37	chr11	57958429	57958429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttgctggttttttcagtgCctttgttcgaacggtcacag	11	9	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:57958429C>T	uc010rka.1	+	1	467	c.467C>T	c.(466-468)GCC>GTC	p.A156V		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q,	156	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)|central_nervous_system(1)	4		Breast(21;0.0589)				TTTTTCAGTGCCTTTGTTCGA	0.502													T	57958429	C	T	57958429	3	4	74	1	0	0	0	0	1	0	0	0	11256	739	26	2	469	2	OR9Q2	11	57958429	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	478202	57958429	77048087	1011	51282											
OR1S1	219959	broad.mit.edu	37	chr11	57983091	57983091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattggtgctgtcctattcaCtgtggtgacacccatgataa	10	9	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:57983091C>T	uc010rkc.1	+	1	875	c.875C>T	c.(874-876)ACT>ATT	p.T292I		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	292	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)				GTCCTATTCACTGTGGTGACA	0.438													T	57983091	C	T	57983091	3	4	74	1	0	0	0	0	1	0	0	0	10972	565	20	4	877	4	OR1S1	11	57983091	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	24662	57983091	77023425	1012	51283											
OR5B17	219965	broad.mit.edu	37	chr11	58126075	58126075	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cgaaatgtatctccaatttgGatagaagcattcagaaaacc	7	8	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:58126075G>C	uc010rke.1	-	1	468	c.468C>G	c.(466-468)ATC>ATG	p.I156M		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B,	156	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTCCAATTTGGATAGAAGCAT	0.433													C	58126075	G	C	58126075	3	2	74	1	0	0	0	0	1	0	0	0	11149	1164	41	5	478	5	OR5B17	11	58126075	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	142984	58126075	76880441	1013	51284											
OSBP	5007	broad.mit.edu	37	chr11	59376060	59376061	+	Frame_Shift_Del	DEL	CT	CT	-													acttcagggactccagctcaCtgagagaacgctgcagagct							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:59376060_59376061delCT	uc001noc.1	-	3	1198_1199	c.718_719delAG	c.(718-720)AGTfs	p.S240fs		NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	240					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CTCCAGCTCACTGAGAGAACGC	0.495													-	59376061	CT	-	59376060	7	5	74	1	0	1	0	1	0	0	0	0	11273	565	20	0	1752	0	OSBP	11	59376060	Frame_Shift_Del	DEL	CT	TCGA-BR-8361-01A-11D-2340-08	1249985	59376060	75630456	1014	51285											
MS4A14	84689	broad.mit.edu	37	chr11	60183281	60183281	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaaagatgaagatctacaAtctgctattgtacaaccttc	6	8	2	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:60183281A>G	uc001npj.2	+	5	1405	c.840A>G	c.(838-840)CAA>CAG	p.Q280Q	MS4A14_uc001npi.2_Silent_p.Q168Q|MS4A14_uc001npn.2_Silent_p.Q18Q|MS4A14_uc001npk.2_Silent_p.Q263Q|MS4A14_uc001npl.2_Silent_p.Q18Q|MS4A14_uc001npm.2_Silent_p.Q18Q	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	280						integral to membrane	receptor activity			breast(1)	1						AAGATCTACAATCTGCTATTG	0.403													G	60183281	A	G	60183281	2	3	74	1	0	0	0	0	0	0	0	1	9858	98	4	3		3	MS4A14	11	60183281	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	807221	60183281	74823235	1015	51286											
MS4A12	54860	broad.mit.edu	37	chr11	60269505	60269505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatccaaggagctttcccGttgtctggtaagttagactg	11	9	1	1	rs111546873		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:60269505G>A	uc001npr.2	+	4	521	c.464G>A	c.(463-465)CGT>CAT	p.R155H		NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member	155	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						GAGCTTTCCCGTTGTCTGGTA	0.393													A	60269505	G	A	60269505	3	1	74	1	0	0	0	0	1	0	0	0	9856	1145	40	1	474	1	MS4A12	11	60269505	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	86224	60269505	74737011	1016	51287											
ZP1	22917	broad.mit.edu	37	chr11	60640928	60640928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccagtccatgtggaggtcCggcttctgcagaggacagac	13	11	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:60640928C>T	uc001nqd.2	+	8	1341	c.1321C>T	c.(1321-1323)CGG>TGG	p.R441W	ZP1_uc001nqe.2_Missense_Mutation_p.R148W	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	441	Extracellular (Potential).|ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0						TGTGGAGGTCCGGCTTCTGCA	0.617													T	60640928	C	T	60640928	3	4	74	1	0	0	0	0	1	0	0	0	18212	643	23	1	1351	1	ZP1	11	60640928	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	371423	60640928	74365588	1017	51288											
ZP1	22917	broad.mit.edu	37	chr11	60642610	60642610	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccctgggcaggacagcgaCgatcctcaggtcaccgtaat	11	14	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:60642610C>T	uc001nqd.2	+	11	1683	c.1663C>T	c.(1663-1665)CGA>TGA	p.R555*	ZP1_uc001nqe.2_Nonsense_Mutation_p.R262*	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	555	Extracellular (Potential).				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0						AGGACAGCGACGATCCTCAGG	0.582													T	60642610	C	T	60642610	4	4	74	1	0	0	0	0	0	1	0	0	18212	528	19	1	1705	1	ZP1	11	60642610	Nonsense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1682	60642610	74363906	1018	51289											
TMEM109	79073	broad.mit.edu	37	chr11	60689491	60689491	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctggccttgctgatcctcTacgccctgctgagccggctc	10	17	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:60689491T>C	uc001nqg.2	+	4	964	c.586T>C	c.(586-588)TAC>CAC	p.Y196H	TMEM109_uc001nqh.2_Missense_Mutation_p.Y196H|TMEM132A_uc001nqi.2_5'Flank|TMEM132A_uc001nqj.2_5'Flank	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	transmembrane protein 109 precursor	196	Helical; (Potential).					integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane					0						GCTGATCCTCTACGCCCTGCT	0.677													C	60689491	T	C	60689491	3	2	74	1	0	0	0	0	1	0	0	0	16022	1522	53	3	596	3	TMEM109	11	60689491	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	46881	60689491	74317025	1019	51290											
TMEM132A	54972	broad.mit.edu	37	chr11	60703652	60703652	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcccatccagccctgcttGgagcccaccagccacagaag	8	18	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:60703652G>A	uc001nqj.2	+	11	2538	c.2345G>A	c.(2344-2346)TGG>TAG	p.W782*	TMEM132A_uc001nqi.2_Nonsense_Mutation_p.W783*|TMEM132A_uc001nqm.2_5'UTR	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	782	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						AGCCCTGCTTGGAGCCCACCA	0.697													A	60703652	G	A	60703652	4	1	74	1	0	0	0	0	0	1	0	0	16042	1357	47	4	2390	4	TMEM132A	11	60703652	Nonsense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	14161	60703652	74302864	1020	51291											
TMEM132A	54972	broad.mit.edu	37	chr11	60703726	60703726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcgggggcaacacaggtGtgaggggcaagtttgagcgg	20	6	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:60703726G>A	uc001nqj.2	+	11	2612	c.2419G>A	c.(2419-2421)GTG>ATG	p.V807M	TMEM132A_uc001nqi.2_Missense_Mutation_p.V808M|TMEM132A_uc001nqm.2_Missense_Mutation_p.V17M	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	807	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						CAACACAGGTGTGAGGGGCAA	0.562													A	60703726	G	A	60703726	3	1	74	1	0	0	0	0	1	0	0	0	16042	1377	48	4	2464	4	TMEM132A	11	60703726	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	74	60703726	74302790	1021	51292											
DAK	26007	broad.mit.edu	37	chr11	61113877	61113877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaagctggagccggaagaGccagttatatcagctcagca	13	9	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:61113877G>A	uc001nre.2	+	18	1887	c.1630G>A	c.(1630-1632)GCC>ACC	p.A544T	DAK_uc009ynm.1_3'UTR	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	544	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0						AGCCGGAAGAGCCAGTTATAT	0.637													A	61113877	G	A	61113877	3	1	74	1	0	0	0	0	1	0	0	0	4228	971	34	2	1696	2	DAK	11	61113877	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	410151	61113877	73892639	1022	51293											
DAGLA	747	broad.mit.edu	37	chr11	61495668	61495668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctttgcggagttcttccGggaccttgacattgtgccat	10	12	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:61495668G>A	uc001nsa.2	+	7	791	c.680G>A	c.(679-681)CGG>CAG	p.R227Q		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	227	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		GAGTTCTTCCGGGACCTTGAC	0.627													A	61495668	G	A	61495668	3	1	74	1	0	0	0	0	1	0	0	0	4226	1116	39	1	702	1	DAGLA	11	61495668	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	381791	61495668	73510848	1023	51294											
SCGB1A1	7356	broad.mit.edu	37	chr11	62190532	62190532	+	Splice_Site	DEL	A	A	-													ctttgtctatttgttttaggAaaaaatagcccaaagctcac							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:62190531_62190531GA>G	uc001ntj.3	+	3	305	c.244_splice	c.e3-1	p.E82_splice		NM_003357	NP_003348	P11684	UTER_HUMAN	Homo sapiens secretoglobin, family 1A, member 1 (uteroglobin) (SCGB1A1), mRNA.	82					embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity			lung(1)	1						TTTGTTTTAGGAAAAAATAGC	0.433													-	62190532	A	-	62190532	8	5	74	1	0	1	0	1	0	0	1	0	13894	260	9	0	255	0	SCGB1A1	11	62190532	Splice_Site	DEL	A	TCGA-BR-8361-01A-11D-2340-08	694864	62190532	72815984	1024	51295											
SLC22A10	387775	broad.mit.edu	37	chr11	63070011	63070012	+	Frame_Shift_Ins	INS	-	-	A													tggccaacacgtttgtgcccINSaaaggtgagagaagactgga							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:63070011_63070012insA	uc009yor.2	+	7	1489_1490	c.1281_1282insA	c.(1279-1284)CCCAAAfs	p.P427fs	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_Intron|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	427_428	Cytoplasmic (Potential).					integral to membrane	transmembrane transporter activity			ovary(2)	2						CGTTTGTGCCCAAAGGTGAGAG	0.436													A	63070012	-	A	63070011	7	5	74	1	0	1	1	0	0	0	0	0	14441	581	21	0	1307	0	SLC22A10	11	63070011	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	879479	63070011	71936505	1025	51296	209	2									
SLC22A10	387775	broad.mit.edu	37	chr11	63070012	63070013	+	Frame_Shift_Ins	INS	-	-	A													ggccaacacgtttgtgcccaINSaaggtgagagaagactggac							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:63070011_63070012C>CA	uc009yor.3	+	6	1489_1490	c.1281_1282C>CA	c.(1279-1284)cccaaafs	p.P427fs	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Intron|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	427						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGTTTGTGCCCAAAGGTGAGAG	0.436													A	63070013	-	A	63070012	7	5	74	1	0	1	1	0	0	0	0	0	14441	131	5	0	1308	0	SLC22A10	11	63070012	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1	63070012	71936504	1026	51297	209	2									
PLCB3	5331	broad.mit.edu	37	chr11	64029923	64029923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtttttgagtacaacgggCgcagcgggtacctgctcaag	14	10	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:64029923C>T	uc001nzb.2	+	18	2083	c.2083C>T	c.(2083-2085)CGC>TGC	p.R695C	PLCB3_uc009ypg.1_Missense_Mutation_p.R695C|PLCB3_uc009yph.1_Missense_Mutation_p.R628C|PLCB3_uc009ypi.2_Missense_Mutation_p.R695C	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	695	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						GTACAACGGGCGCAGCGGGTA	0.637													T	64029923	C	T	64029923	3	4	74	1	0	0	0	0	1	0	0	0	12029	768	27	1	2153	1	PLCB3	11	64029923	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	959911	64029923	70976593	1027	51298											
ATG2A	23130	broad.mit.edu	37	chr11	64675064	64675064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaggggccggggaagccCgagggctgggcggcggggtc	23	11	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:64675064C>T	uc001obx.2	-	18	2695	c.2580G>A	c.(2578-2580)TCG>TCA	p.S860S		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	860							protein binding			ovary(1)|central_nervous_system(1)	2						CGGGGAAGCCCGAGGGCTGGG	0.617													T	64675064	C	T	64675064	2	4	74	1	0	0	0	0	0	0	0	1	1093	639	23	1		1	ATG2A	11	64675064	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	645141	64675064	70331452	1028	51299											
C11orf2	738	broad.mit.edu	37	chr11	64875686	64875686	+	Frame_Shift_Del	DEL	C	C	-													cagggagggcggctcaggcgCcccggagcaggcagagtgcg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:64875686delC	uc001ocr.1	+	5	783	c.743delC	c.(742-744)GCCfs	p.A248fs	C11orf2_uc001ocs.1_Frame_Shift_Del_p.A124fs	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	248					lipid transport|protein transport	Golgi apparatus|integral to membrane					0						GGCTCAGGCGCCCCGGAGCAG	0.721													-	64875686	C	-	64875686	7	5	74	1	0	1	0	1	0	0	0	0	1633	739	26	0	761	0	C11orf2	11	64875686	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	200622	64875686	70130830	1029	51300											
MAP3K11	4296	broad.mit.edu	37	chr11	65380977	65380977	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccacccacctggcccgccCaccagccctcgtctcctgag	9	22	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:65380977C>A	uc001oew.2	-	1	744	c.251G>T	c.(250-252)TGG>TTG	p.W84L	MAP3K11_uc010rol.1_5'Flank|PCNXL3_uc001oey.2_5'Flank	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	84	SH3.|Gly-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						CTGGCCCGCCCACCAGCCCTC	0.692													A	65380977	C	A	65380977	3	1	74	1	0	0	0	0	1	0	0	0	9245	595	21	5	2332	5	MAP3K11	11	65380977	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	505291	65380977	69625539	1030	51301											
EFEMP2	30008	broad.mit.edu	37	chr11	65637409	65637409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccataggagttgaagcagcGctgctcgcatggggccccca	13	14	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:65637409G>A	uc001ofy.3	-	7	840	c.646C>T	c.(646-648)CGC>TGC	p.R216C	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.R216C	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	216	EGF-like 4; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		TTGAAGCAGCGCTGCTCGCAT	0.607													A	65637409	G	A	65637409	3	1	74	1	0	0	0	0	1	0	0	0	4942	1087	38	1	705	1	EFEMP2	11	65637409	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	256432	65637409	69369107	1031	51302											
EFEMP2	30008	broad.mit.edu	37	chr11	65638097	65638097	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcctggctggggcgacAgtcgtgcagggcctgggcac	18	12	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:65638097A>G	uc001ofy.3	-	5	594	c.400T>C	c.(400-402)TGT>CGT	p.C134R	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.C134R	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	134	EGF-like 2; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		CTGGGGCGACAGTCGTGCAGG	0.612													G	65638097	A	G	65638097	3	3	74	1	0	0	0	0	1	0	0	0	4942	188	7	3	959	3	EFEMP2	11	65638097	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	688	65638097	69368419	1032	51303											
FIBP	9158	broad.mit.edu	37	chr11	65653050	65653051	+	Frame_Shift_Del	DEL	AA	AA	-													atgagctcagcgcagaaggcAaagtcaccgaagctcagata							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:65653050_65653051delAA	uc001ogd.2	-	5	717_718	c.596_597delTT	c.(595-597)TTTfs	p.F199fs	FIBP_uc009yqu.2_Frame_Shift_Del_p.F196fs|FIBP_uc001oge.2_Frame_Shift_Del_p.F199fs	NM_198897	NP_942600	O43427	FIBP_HUMAN	FGF intracellular binding protein isoform a	199					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.166)		CGCAGAAGGCAAAGTCACCGAA	0.564											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	65653051	AA	-	65653050	7	5	74	1	0	1	0	1	0	0	0	0	5886	127	5	0	521	0	FIBP	11	65653050	Frame_Shift_Del	DEL	AA	TCGA-BR-8361-01A-11D-2340-08	14953	65653050	69353466	1033	51304											
GAL3ST3	89792	broad.mit.edu	37	chr11	65810490	65810490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgagcttggcgtagagcaCgtcgtccaggtcccaggcca	14	12	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:65810490C>T	uc001ogv.2	-	2	944	c.784G>A	c.(784-786)GTG>ATG	p.V262M	GAL3ST3_uc001ogw.2_Missense_Mutation_p.V262M	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	262	Lumenal (Potential).				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(1)	1						GCGTAGAGCACGTCGTCCAGG	0.582													T	65810490	C	T	65810490	3	4	74	1	0	0	0	0	1	0	0	0	6199	536	19	1	515	1	GAL3ST3	11	65810490	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	157440	65810490	69196026	1034	51305											
NPAS4	266743	broad.mit.edu	37	chr11	66192084	66192084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttctctatgagaagttgCccccaagtcctagcagccct	8	13	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:66192084C>T	uc001ohx.1	+	7	1899	c.1723C>T	c.(1723-1725)CCC>TCC	p.P575S	NPAS4_uc010rpc.1_Missense_Mutation_p.P365S	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	575					transcription, DNA-dependent		DNA binding|signal transducer activity				0						TGAGAAGTTGCCCCCAAGTCC	0.612													T	66192084	C	T	66192084	3	4	74	1	0	0	0	0	1	0	0	0	10565	739	26	2	1749	2	NPAS4	11	66192084	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	381594	66192084	68814432	1035	51306											
DPP3	10072	broad.mit.edu	37	chr11	66258993	66258993	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccaacagccaccaggggcAgatgctggcccagtatatag	12	12	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:66258993A>G	uc001oig.1	+	8	889	c.827A>G	c.(826-828)CAG>CGG	p.Q276R	DPP3_uc001oif.1_Missense_Mutation_p.Q276R|DPP3_uc010rpe.1_Missense_Mutation_p.Q265R	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	276					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2						CACCAGGGGCAGATGCTGGCC	0.662											OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	66258993	A	G	66258993	3	3	74	1	0	0	0	0	1	0	0	0	4728	188	7	3	853	3	DPP3	11	66258993	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	66909	66258993	68747523	1036	51307											
CTSF	8722	broad.mit.edu	37	chr11	66332428	66332428	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctctgctgagaagttgcaGgactgcatgtgaccctggta	12	9	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:66332428G>T	uc001oip.2	-	9	1185	c.1095C>A	c.(1093-1095)TCC>TCA	p.S365S		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	cathepsin F precursor	365					proteolysis	lysosome	cysteine-type endopeptidase activity				0						AGAAGTTGCAGGACTGCATGT	0.577													T	66332428	G	T	66332428	2	4	74	1	0	0	0	0	0	0	0	1	4034	987	35	5		5	CTSF	11	66332428	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	73435	66332428	68674088	1037	51308											
SPTBN2	6712	broad.mit.edu	37	chr11	66458820	66458820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctgcagggcctcggcagCgttgaggtcgcggccagtcc	17	14	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:66458820C>T	uc001ojd.2	-	26	5572	c.5500G>A	c.(5500-5502)GCT>ACT	p.A1834T		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1834	Spectrin 15.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GCCTCGGCAGCGTTGAGGTCG	0.677													T	66458820	C	T	66458820	3	4	74	1	0	0	0	0	1	0	0	0	15119	768	27	1	1720	1	SPTBN2	11	66458820	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	126392	66458820	68547696	1038	51309											
SPTBN2	6712	broad.mit.edu	37	chr11	66461663	66461663	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcgcgagaagcctgcaGgcgccggcagcgttcccgca	14	16	0	1	rs139883853		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:66461663G>T	uc001ojd.2	-	21	4522	c.4450C>A	c.(4450-4452)CTG>ATG	p.L1484M		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1484	Spectrin 11.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GAAGCCTGCAGGCGCCGGCAG	0.652											OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	66461663	G	T	66461663	3	4	74	1	0	0	0	0	1	0	0	0	15119	991	35	5	2790	5	SPTBN2	11	66461663	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2843	66461663	68544853	1039	51310											
SPTBN2	6712	broad.mit.edu	37	chr11	66469142	66469142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcggcaatgtcattcaccGcggtgatttgtgctgcaagg	13	10	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:66469142G>A	uc001ojd.2	-	15	2801	c.2729C>T	c.(2728-2730)GCG>GTG	p.A910V		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	910	Spectrin 6.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GTCATTCACCGCGGTGATTTG	0.577													A	66469142	G	A	66469142	3	1	74	1	0	0	0	0	1	0	0	0	15119	1087	38	1	4535	1	SPTBN2	11	66469142	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	7479	66469142	68537374	1040	51311											
SPTBN2	6712	broad.mit.edu	37	chr11	66472908	66472908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctagcttggccacccgctcCgacaccagctgcgggtcgca	11	17	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:66472908C>T	uc001ojd.2	-	14	1911	c.1839G>A	c.(1837-1839)TCG>TCA	p.S613S		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	613	Spectrin 3.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CCACCCGCTCCGACACCAGCT	0.647													T	66472908	C	T	66472908	2	4	74	1	0	0	0	0	0	0	0	1	15119	639	23	1		1	SPTBN2	11	66472908	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3766	66472908	68533608	1041	51312											
C11orf80	79703	broad.mit.edu	37	chr11	66605851	66605851	+	Frame_Shift_Del	DEL	A	A	-													ttttaagcagctaaccctagAaaaaaaggactcagcccagg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:66605850_66605850GA>G	uc021qmd.1	+	14	1688	c.1681_1681GA>G	c.(1681-1683)gaafs	p.E561fs	C11orf80_uc010rpl.2_Frame_Shift_Del_p.E195fs|C11orf80_uc001ojj.3_Frame_Shift_Del_p.E159fs	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	Homo sapiens chromosome 11 open reading frame 80 (C11orf80), mRNA.	406										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GCTAACCCTAGAAAAAAAGGA	0.478													-	66605851	A	-	66605851	7	5	74	1	0	1	0	1	0	0	0	0	1664	246	9	0	1740	0	C11orf80	11	66605851	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	132943	66605851	68400665	1042	51313											
ADRBK1	156	broad.mit.edu	37	chr11	67048615	67048615	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcattgggcgcgggggctttGgcgaggtctatgggtgccgg	20	8	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:67048615G>T	uc009yrn.1	+	8	873	c.607G>T	c.(607-609)GGC>TGC	p.G203C	ADRBK1_uc009yrm.1_Missense_Mutation_p.G203C	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	203	Protein kinase.|ATP (By similarity).				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CGGGGGCTTTGGCGAGGTCTA	0.667													T	67048615	G	T	67048615	3	4	74	1	0	0	0	0	1	0	0	0	343	1348	47	5	637	5	ADRBK1	11	67048615	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	442764	67048615	67957901	1043	51314											
ANKRD13D	338692	broad.mit.edu	37	chr11	67069008	67069008	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgtgtttgaagtgcccaaCgggtacagcgtgctgggcat	14	10	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:67069008C>T	uc001okc.1	+	14	1648	c.1137C>T	c.(1135-1137)AAC>AAT	p.N379N	ANKRD13D_uc001okd.1_Silent_p.N466N|ANKRD13D_uc001oke.1_Silent_p.N379N|ANKRD13D_uc001okg.1_Silent_p.N162N|ANKRD13D_uc001okh.1_Silent_p.N162N|ANKRD13D_uc001oki.1_Silent_p.N116N|SSH3_uc001okj.2_5'Flank|SSH3_uc001okk.2_5'Flank|SSH3_uc001okl.2_5'Flank	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	379										ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AAGTGCCCAACGGGTACAGCG	0.662													T	67069008	C	T	67069008	2	4	74	1	0	0	0	0	0	0	0	1	644	535	19	1		1	ANKRD13D	11	67069008	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	20393	67069008	67937508	1044	51315											
ALDH3B2	222	broad.mit.edu	37	chr11	67431956	67431956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccacgctctgcacgttcaCgatgggcaggatgggcccga	14	13	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:67431956C>T	uc001omr.2	-	8	1223	c.784G>A	c.(784-786)GTG>ATG	p.V262M	ALDH3B2_uc001oms.2_Missense_Mutation_p.V262M|ALDH3B2_uc009ysa.1_Missense_Mutation_p.V262M	NM_000695	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3B2	262					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			lung(1)|kidney(1)	2					NADH(DB00157)	TGCACGTTCACGATGGGCAGG	0.652													T	67431956	C	T	67431956	3	4	74	1	0	0	0	0	1	0	0	0	500	536	19	1	385	1	ALDH3B2	11	67431956	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	362948	67431956	67574560	1045	51316											
TCIRG1	10312	broad.mit.edu	37	chr11	67814962	67814962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcggggatgtgggccacGggctgctcatgttcctgttc	15	10	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:67814962G>A	uc001one.2	+	11	1336	c.1228G>A	c.(1228-1230)GGG>AGG	p.G410R	TCIRG1_uc001ong.2_Missense_Mutation_p.G194R|TCIRG1_uc001onh.2_Missense_Mutation_p.G112R|TCIRG1_uc001oni.2_5'UTR|TCIRG1_uc009ysd.2_5'Flank	NM_006019	NP_006010	Q13488	VPP3_HUMAN	T-cell, immune regulator 1 isoform a	410	Helical; (Potential).				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			ovary(1)	1						TGTGGGCCACGGGCTGCTCAT	0.642													A	67814962	G	A	67814962	3	1	74	1	0	0	0	0	1	0	0	0	15700	1116	39	1	1266	1	TCIRG1	11	67814962	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	383006	67814962	67191554	1046	51317											
ANO1	55107	broad.mit.edu	37	chr11	70034102	70034102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgcctaccacgggggcGtcctgtagctatgccagcgg	14	14	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:70034102G>A	uc001opj.2	+	26	3258	c.2953G>A	c.(2953-2955)GTC>ATC	p.V985I	ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.V694I|ANO1_uc010rql.1_Missense_Mutation_p.V159I	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	985	Cytoplasmic (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						CCACGGGGGCGTCCTGTAGCT	0.716													A	70034102	G	A	70034102	3	1	74	1	0	0	0	0	1	0	0	0	695	1145	40	1	3055	1	ANO1	11	70034102	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2219140	70034102	64972414	1047	51318											
NUMA1	4926	broad.mit.edu	37	chr11	71725778	71725778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctgctcacctgccttgCgcaccaaggtctccaagcgg	10	17	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:71725778C>T	uc001orl.1	-	15	2943	c.2771G>A	c.(2770-2772)CGC>CAC	p.R924H	NUMA1_uc009ysw.1_Missense_Mutation_p.R487H|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.R924H|NUMA1_uc001orn.2_Missense_Mutation_p.R487H|NUMA1_uc009ysx.1_Missense_Mutation_p.R924H|NUMA1_uc001oro.1_Missense_Mutation_p.R924H	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	924	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						ACCTGCCTTGCGCACCAAGGT	0.602			T	RARA	APL								T	71725778	C	T	71725778	3	4	74	1	0	0	0	0	1	0	0	0	10750	768	27	1	3628	1	NUMA1	11	71725778	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1691676	71725778	63280738	1048	51319											
NUMA1	4926	broad.mit.edu	37	chr11	71729497	71729497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctccagtgggctggccgCctgcttctcattcagcaggg	15	13	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:71729497C>T	uc001orl.1	-	11	977	c.805G>A	c.(805-807)GCG>ACG	p.A269T	NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Missense_Mutation_p.A269T|NUMA1_uc001orm.1_Missense_Mutation_p.A269T|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Missense_Mutation_p.A269T|NUMA1_uc001oro.1_Missense_Mutation_p.A269T|NUMA1_uc009ysy.1_Missense_Mutation_p.A269T|NUMA1_uc001orp.2_Missense_Mutation_p.A269T|NUMA1_uc001orq.2_Missense_Mutation_p.A269T	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	269	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						GGGCTGGCCGCCTGCTTCTCA	0.602			T	RARA	APL								T	71729497	C	T	71729497	3	4	74	1	0	0	0	0	1	0	0	0	10750	739	26	2	5610	2	NUMA1	11	71729497	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3719	71729497	63277019	1049	51320											
INPPL1	3636	broad.mit.edu	37	chr11	71948467	71948467	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccacctccaccactgccggActcagccatcttcctgcccc	5	22	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:71948467A>T	uc001osf.2	+	26	3326	c.3179A>T	c.(3178-3180)GAC>GTC	p.D1060V	INPPL1_uc001osg.2_Missense_Mutation_p.D818V	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1060	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						CCACTGCCGGACTCAGCCATC	0.677													T	71948467	A	T	71948467	3	4	74	1	0	0	0	0	1	0	0	0	7761	275	10	5	3281	5	INPPL1	11	71948467	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	218970	71948467	63058049	1050	51321											
PDE2A	5138	broad.mit.edu	37	chr11	72288632	72288632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttggggaacaggtcctgCaacagcctgcgggtgcatgg	16	10	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:72288632C>T	uc010rrc.1	-	31	2865	c.2622G>A	c.(2620-2622)TTG>TTA	p.L874L	PDE2A_uc001oso.2_Silent_p.L853L|PDE2A_uc010rra.1_Silent_p.L867L|PDE2A_uc001osn.2_Silent_p.L618L|PDE2A_uc010rrb.1_Silent_p.L865L|PDE2A_uc010rrd.1_Silent_p.L759L	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	874	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	ACAGGTCCTGCAACAGCCTGC	0.597													T	72288632	C	T	72288632	2	4	74	1	0	0	0	0	0	0	0	1	11636	709	25	2		2	PDE2A	11	72288632	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	340165	72288632	62717884	1051	51322											
ATG16L2	89849	broad.mit.edu	37	chr11	72540426	72540426	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagggcaggaaggttgtgctCtggcagtagggccacgacct	16	10	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:72540426C>T	uc001otd.2	+	18	1891	c.1851C>T	c.(1849-1851)CTC>CTT	p.L617L	ATG16L2_uc001ote.2_Silent_p.L511L|ATG16L2_uc009ytj.1_Intron|ATG16L2_uc001otf.2_Silent_p.L372L|ATG16L2_uc001otg.2_Silent_p.L351L|ATG16L2_uc009ytk.2_Silent_p.L338L	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	ATG16 autophagy related 16-like 2	617	WD 7.				autophagy|protein transport	cytoplasm	protein binding				0			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			AGGTTGTGCTCTGGCAGTAGG	0.483													T	72540426	C	T	72540426	2	4	74	1	0	0	0	0	0	0	0	1	1092	900	32	4		4	ATG16L2	11	72540426	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	251794	72540426	62466090	1052	51323											
P2RY6	5031	broad.mit.edu	37	chr11	73007627	73007627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaccacctgtgtctaccgcGagaacttcaagcaactgctg	8	15	2	1	rs61745521	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:73007627G>A	uc001otm.2	+	4	469	c.64G>A	c.(64-66)GAG>AAG	p.E22K	P2RY6_uc001otn.2_Missense_Mutation_p.E22K|P2RY6_uc001oto.2_Missense_Mutation_p.E22K|P2RY6_uc001otp.2_Missense_Mutation_p.E22K|P2RY6_uc001otq.2_Missense_Mutation_p.E22K|P2RY6_uc001otr.2_Missense_Mutation_p.E22K|P2RY6_uc001ots.2_Missense_Mutation_p.E22K	NM_176796	NP_789766	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y6	22	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1						TGTCTACCGCGAGAACTTCAA	0.607													A	73007627	G	A	73007627	3	1	74	1	0	0	0	0	1	0	0	0	11354	1059	37	1	66	1	P2RY6	11	73007627	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	467201	73007627	61998889	1053	51324											
C2CD3	26005	broad.mit.edu	37	chr11	73785385	73785385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggccctcctgcgtcaggcGgacttcagctgtggtgctgc	15	13	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:73785385G>A	uc001ouu.2	-	24	5091	c.4864C>T	c.(4864-4866)CGC>TGC	p.R1622C	C2CD3_uc001out.2_RNA	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1622	C2 2.					centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					TGCGTCAGGCGGACTTCAGCT	0.557													A	73785385	G	A	73785385	3	1	74	1	0	0	0	0	1	0	0	0	2154	1116	39	1	1059	1	C2CD3	11	73785385	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	777758	73785385	61221131	1054	51325											
RNF169	254225	broad.mit.edu	37	chr11	74547254	74547254	+	Frame_Shift_Del	DEL	G	G	-													gctgttcctcagaactcaaaGggggaggcagtgggacttct							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:74547253_74547253AG>A	uc001ovl.4	+	5	1618	c.1605_1605AG>A	c.(1603-1605)aaafs	p.K535fs	XRRA1_uc001ovm.2_Intron	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	Homo sapiens ring finger protein 169 (RNF169), mRNA.	535							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CAGAACTCAAAGGGGGAGGCA	0.473													-	74547254	G	-	74547254	7	5	74	1	0	1	0	1	0	0	0	0	13460	1000	35	0	1628	0	RNF169	11	74547254	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	761869	74547254	60459262	1055	51326											
NEU3	10825	broad.mit.edu	37	chr11	74705655	74705655	+	Frame_Shift_Del	DEL	C	C	-													tcccagccctgctctacataCcccccacccacaccttcctg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:74705654_74705654AC>A	uc001ovw.3	+	1	351	c.195_195AC>A	c.(193-195)atafs	p.I65fs	NEU3_uc001ovv.3_Frame_Shift_Del_p.I55fs|NEU3_uc010rrl.2_Intron	NM_006656	NP_006647	A8K327	A8K327_HUMAN	Homo sapiens sialidase 3 (membrane sialidase) (NEU3), mRNA.	65										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						TGCTCTACATACCCCCCACCC	0.567													-	74705655	C	-	74705655	7	5	74	1	0	1	0	1	0	0	0	0	10343	507	18	0	202	0	NEU3	11	74705655	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	158401	74705655	60300861	1056	51327											
MAP6	4135	broad.mit.edu	37	chr11	75298727	75298727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgctgggactatgggacCttgatccttgacaggtgctg	15	8	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:75298727C>T	uc001owu.2	-	4	1884	c.1819G>A	c.(1819-1821)GGT>AGT	p.G607S		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6 isoform 1	607	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding				0	Ovarian(111;0.11)					ACTATGGGACCTTGATCCTTG	0.537													T	75298727	C	T	75298727	3	4	74	1	0	0	0	0	1	0	0	0	9264	681	24	4	626	4	MAP6	11	75298727	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	593072	75298727	59707789	1057	51328											
UVRAG	7405	broad.mit.edu	37	chr11	75826988	75826988	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaagatatcaacatggactAgggactccagacttgcggca	10	10	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:75826988A>G	uc001oxc.2	+	14	1567	c.1326A>G	c.(1324-1326)CTA>CTG	p.L442L	UVRAG_uc010rrw.1_Silent_p.L341L|UVRAG_uc001oxd.2_Silent_p.L70L|UVRAG_uc010rrx.1_Silent_p.L70L|UVRAG_uc010rry.1_5'UTR	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	442					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			skin(4)|lung(2)	6						AACATGGACTAGGGACTCCAG	0.388													G	75826988	A	G	75826988	2	3	74	1	0	0	0	0	0	0	0	1	17105	407	15	3		3	UVRAG	11	75826988	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	528261	75826988	59179528	1058	51329											
RSF1	51773	broad.mit.edu	37	chr11	77411876	77411876	+	Frame_Shift_Del	DEL	T	T	-													ctcatcttctccttcccctcTttttttatcagctttctgat							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:77411875_77411875CT>C	uc001oyn.3	-	5	2519	c.2399_2399AG>G	c.(2398-2400)agafs	p.R800fs	RSF1_uc001oym.3_Frame_Shift_Del_p.R548fs	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	800					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TCCTTCCCCTCTTTTTTTATC	0.363													-	77411876	T	-	77411876	7	5	74	1	0	1	0	1	0	0	0	0	13699	1617	56	0	1971	0	RSF1	11	77411876	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	1584888	77411876	57594640	1059	51330											
INTS4	92105	broad.mit.edu	37	chr11	77602450	77602450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaacccagaggtaaacCgcaaagggttgtctgactcg	10	13	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:77602450C>T	uc001oys.2	-	21	2535	c.2507G>A	c.(2506-2508)CGG>CAG	p.R836Q	C11orf67_uc001oyp.2_Intron|C11orf67_uc001oyr.1_Intron|INTS4_uc001oyt.2_RNA	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	836					snRNA processing	integrator complex	protein binding			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AGAGGTAAACCGCAAAGGGTT	0.522													T	77602450	C	T	77602450	3	4	74	1	0	0	0	0	1	0	0	0	7780	652	23	1	396	1	INTS4	11	77602450	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	190574	77602450	57404066	1060	51331											
INTS4	92105	broad.mit.edu	37	chr11	77672170	77672170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatttcttacaccatgagaCgtatctgtcagatgctatta	6	8	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:77672170C>T	uc001oys.2	-	5	514	c.486G>A	c.(484-486)ACG>ACA	p.T162T	INTS4_uc001oyt.2_RNA|INTS4_uc001oyu.1_Silent_p.T162T	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	162	HEAT 2.				snRNA processing	integrator complex	protein binding			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CACCATGAGACGTATCTGTCA	0.338													T	77672170	C	T	77672170	2	4	74	1	0	0	0	0	0	0	0	1	7780	523	19	1		1	INTS4	11	77672170	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	69720	77672170	57334346	1061	51332											
ALG8	79053	broad.mit.edu	37	chr11	77832193	77832193	+	Frame_Shift_Del	DEL	T	T	-													tctgtaagttctttacccacTttttttccatcaatgcattt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:77832192_77832192CT>C	uc001oza.1	-	3	462	c.397_397AG>G	c.(397-399)gtgfs	p.V133fs	ALG8_uc001oyz.1_Frame_Shift_Del_p.V133fs|ALG8_uc009yuy.1_Non-coding_Transcript	NM_024079	NP_076984	Q9BVK2	ALG8_HUMAN	Homo sapiens asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG8), transcript variant 1, mRNA.	133					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TCTTTACCCACTTTTTTTCCA	0.353													-	77832193	T	-	77832193	7	5	74	1	0	1	0	1	0	0	0	0	523	1606	56	0	1283	0	ALG8	11	77832193	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	160023	77832193	57174323	1062	51333											
USP35	57558	broad.mit.edu	37	chr11	77920763	77920763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcgccccacagaagacaTcacagcccgggagttgcccc	11	16	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:77920763T>C	uc009yva.1	+	10	2108	c.1862T>C	c.(1861-1863)ATC>ACC	p.I621T	USP35_uc001oze.2_Missense_Mutation_p.I377T|USP35_uc001ozc.2_Missense_Mutation_p.I189T|USP35_uc010rsp.1_Missense_Mutation_p.I53T|USP35_uc001ozd.2_Missense_Mutation_p.I232T|USP35_uc001ozf.2_Missense_Mutation_p.I352T	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	621					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ACAGAAGACATCACAGCCCGG	0.677													C	77920763	T	C	77920763	3	2	74	1	0	0	0	0	1	0	0	0	17063	1435	50	3	1896	3	USP35	11	77920763	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	88570	77920763	57085753	1063	51334											
MAML2	84441	broad.mit.edu	37	chr11	95724695	95724695	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttttaccgcgtcagccaGcatctgctgctggagaagaa	11	10	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:95724695G>A	uc001pfw.1	-	3	3617	c.2332C>T	c.(2332-2334)CTG>TTG	p.L778L		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	778					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GCGTCAGCCAGCATCTGCTGC	0.428			T	MECT1|CRTC3	salivary gland mucoepidermoid								A	95724695	G	A	95724695	2	1	74	1	0	0	0	0	0	0	0	1	9206	962	34	2		2	MAML2	11	95724695	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	17803932	95724695	39281821	1064	51335											
TRPC6	7225	broad.mit.edu	37	chr11	101342905	101342905	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgttgatcatggcaattAacatatttagcaaaacaatg	6	6	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:101342905A>G	uc001pgk.3	-	8	2593	c.2168T>C	c.(2167-2169)TTA>TCA	p.L723S	TRPC6_uc009ywy.2_Missense_Mutation_p.L607S|TRPC6_uc009ywz.1_Missense_Mutation_p.L668S	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	723	Helical; (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CATGGCAATTAACATATTTAG	0.318													G	101342905	A	G	101342905	3	3	74	1	0	0	0	0	1	0	0	0	16580	372	13	3	651	3	TRPC6	11	101342905	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	5618210	101342905	33663611	1065	51336											
MMP3	4314	broad.mit.edu	37	chr11	102713563	102713564	+	Frame_Shift_Ins	INS	-	-	T													aacttctgcatttctcggatINSttttttaacaacaggaccac							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:102713562_102713563A>AT	uc001phj.1	-	1	255_256	c.190_191T>AT	c.(190-192)atcfs	p.I64fs		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	64					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CATTTCTCGGATTTTTTTAACA	0.436													T	102713564	-	T	102713563	7	5	74	1	0	1	1	0	0	0	0	0	9666	1493	52	0	1279	0	MMP3	11	102713563	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1370658	102713563	32292953	1066	51337											
GRIA4	2893	broad.mit.edu	37	chr11	105769149	105769149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggatctgagactcctcCaaaggtatttgtttattttt	7	8	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:105769149C>T	uc001pix.2	+	7	1327	c.881C>T	c.(880-882)CCA>CTA	p.P294L	GRIA4_uc001piu.1_Missense_Mutation_p.P294L|GRIA4_uc001piw.2_Missense_Mutation_p.P294L|GRIA4_uc009yxk.1_Missense_Mutation_p.P294L	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	294	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GAGACTCCTCCAAAGGTATTT	0.323													T	105769149	C	T	105769149	3	4	74	1	0	0	0	0	1	0	0	0	6770	594	21	4	903	4	GRIA4	11	105769149	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3055586	105769149	29237367	1067	51338											
KIAA1826	84437	broad.mit.edu	37	chr11	105880801	105880801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcctggaatctggtatgaCggatgacaacatttcttcct	8	10	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:105880801C>T	uc001piy.2	-	3	672	c.499G>A	c.(499-501)GTC>ATC	p.V167I	KIAA1826_uc001piz.2_Missense_Mutation_p.V167I	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	hypothetical protein LOC84437	167						nucleus				breast(1)	1		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)		TCTGGTATGACGGATGACAAC	0.373													T	105880801	C	T	105880801	3	4	74	1	0	0	0	0	1	0	0	0	8260	536	19	1	542	1	KIAA1826	11	105880801	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	111652	105880801	29125715	1068	51339											
NPAT	4863	broad.mit.edu	37	chr11	108044069	108044070	+	Frame_Shift_Ins	INS	-	-	T													gaattttcacaaaattgactINSttttttagatggctttccag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:108044068_108044069C>CT	uc001pjz.4	-	12	1744_1745	c.1642_1643G>AG	c.(1642-1644)agtfs	p.S548fs	NPAT_uc001pka.3_Frame_Shift_Ins_p.S343fs	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	548					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ACAAAATTGACTTTTTTTAGAT	0.302													T	108044070	-	T	108044069	7	5	74	1	0	1	1	0	0	0	0	0	10566	1609	56	0	2665	0	NPAT	11	108044069	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	2163268	108044069	26962447	1069	51340											
NPAT	4863	broad.mit.edu	37	chr11	108047089	108047091	+	In_Frame_Del	DEL	TTC	TTC	-													tttgtgatatatttttattaTtctttgttttgcctgttaaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:108047089_108047091delTTC	uc001pjz.3	-	12	1116_1118	c.1014_1016delGAA	c.(1012-1017)AAGAAT>AAT	p.K338del	NPAT_uc001pka.2_In_Frame_Del_p.K133del	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	338	Mediates transcriptional activation.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ATTTTTATTATTCTTTGTTTTGC	0.296													-	108047091	TTC	-	108047089	7	5	74	1	0	1	0	1	0	0	0	0	10566	1493	52	0	3295	0	NPAT	11	108047089	In_Frame_Del	DEL	TTC	TCGA-BR-8361-01A-11D-2340-08	3020	108047089	26959427	1070	51341											
ATM	472	broad.mit.edu	37	chr11	108160451	108160451	+	Frame_Shift_Del	DEL	A	A	-													agtttattactgaaagatatAaaaagtggcttaggaggagc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:108160451delA	uc001pkb.1	+	29	4744	c.4359delA	c.(4357-4359)ATAfs	p.I1453fs	ATM_uc009yxr.1_Frame_Shift_Del_p.I1453fs|ATM_uc001pkd.3_Frame_Shift_Del_p.I105fs|ATM_uc001pke.1_Frame_Shift_Del_p.I105fs|ATM_uc010rvw.1_Frame_Shift_Del_p.I105fs|ATM_uc001pkf.2_Frame_Shift_Del_p.I105fs	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1453					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGAAAGATATAAAAAGTGGCT	0.318			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			-	108160451	A	-	108160451	7	5	74	1	0	1	0	1	0	0	0	0	1109	352	13	0	4469	0	ATM	11	108160451	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	113362	108160451	26846065	1071	51342											
ARHGAP20	57569	broad.mit.edu	37	chr11	110485315	110485315	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcccaatgtccttggcgaaGattttgaggggaatgctctt	11	8	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:110485315G>T	uc001pkz.1	-	7	885	c.600C>A	c.(598-600)ATC>ATA	p.I200I	ARHGAP20_uc001pky.1_Silent_p.I177I|ARHGAP20_uc009yyb.1_Silent_p.I164I|ARHGAP20_uc001pla.1_Silent_p.I164I	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	200	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CCTTGGCGAAGATTTTGAGGG	0.408													T	110485315	G	T	110485315	2	4	74	1	0	0	0	0	0	0	0	1	870	932	33	5		5	ARHGAP20	11	110485315	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2324864	110485315	24521201	1072	51343											
POU2AF1	5450	broad.mit.edu	37	chr11	111228334	111228334	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtgtccatggggccagggGctgcagggtggccggggtgg	23	8	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:111228334G>T	uc001plg.3	-	4	547	c.292C>A	c.(292-294)CCC>ACC	p.P98T		NM_006235	NP_006226	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	98					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			kidney(1)	1		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GGGGCCAGGGGCTGCAGGGTG	0.632			T	BCL6	NHL								T	111228334	G	T	111228334	3	4	74	1	0	0	0	0	1	0	0	0	12270	1203	42	5	486	5	POU2AF1	11	111228334	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	743019	111228334	23778182	1073	51344											
LAYN	143903	broad.mit.edu	37	chr11	111431071	111431071	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaaagtgggtttgtgactcTggtgagcgtggagagtggat	18	3	1	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:111431071T>A	uc001plr.1	+	8	1373	c.1037T>A	c.(1036-1038)CTG>CAG	p.L346Q	LAYN_uc001plp.1_Missense_Mutation_p.L338Q|LAYN_uc001plq.1_3'UTR|LAYN_uc001pls.1_3'UTR|LAYN_uc010rwg.1_Missense_Mutation_p.L193Q|LAYN_uc010rwh.1_Missense_Mutation_p.L194Q	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	layilin	346	Cytoplasmic (Potential).|3 X 5 AA repeats of E-S-G-X-V.|Interaction with NF2 (By similarity).|Interaction with TLN1 (By similarity).					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding				0		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		TTTGTGACTCTGGTGAGCGTG	0.473													A	111431071	T	A	111431071	3	1	74	1	0	0	0	0	1	0	0	0	8649	1580	55	5	1039	5	LAYN	11	111431071	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	202737	111431071	23575445	1074	51345											
DRD2	1813	broad.mit.edu	37	chr11	113295140	113295140	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcgacgaggaggtcggcCactgcgaggctgacgatcag	18	10	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:113295140C>T	uc001pnz.2	-	1	555	c.234G>A	c.(232-234)GTG>GTA	p.V78V	DRD2_uc010rwv.1_Silent_p.V78V|DRD2_uc001poa.3_Silent_p.V78V|DRD2_uc001pob.3_Silent_p.V78V|DRD2_uc009yyr.1_Silent_p.V78V	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	78	Helical; Name=2; (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GGAGGTCGGCCACTGCGAGGC	0.637													T	113295140	C	T	113295140	2	4	74	1	0	0	0	0	0	0	0	1	4757	581	21	4		4	DRD2	11	113295140	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1864069	113295140	21711376	1075	51346											
HTR3A	3359	broad.mit.edu	37	chr11	113853960	113853960	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctcgacatctacaacttcCccttcgatgtccagaactgc	6	16	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:113853960C>A	uc010rxb.1	+	5	744	c.511C>A	c.(511-513)CCC>ACC	p.P171T	HTR3A_uc010rxa.1_Missense_Mutation_p.P171T|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.P150T	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	165	Extracellular (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CTACAACTTCCCCTTCGATGT	0.557													A	113853960	C	A	113853960	3	1	74	1	0	0	0	0	1	0	0	0	7444	623	22	5	555	5	HTR3A	11	113853960	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	558820	113853960	21152556	1076	51347											
HTR3A	3359	broad.mit.edu	37	chr11	113860366	113860366	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagatccgagaggtggccCgagactggctgcgcgtgggc	18	10	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:113860366C>T	uc010rxb.1	+	8	1665	c.1432C>T	c.(1432-1434)CGA>TGA	p.R478*	HTR3A_uc010rxa.1_Nonsense_Mutation_p.R446*|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Nonsense_Mutation_p.R425*	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	440	HA-stretch.|Cytoplasmic (Potential).			R->A: Increased conductance. Massive increase of conductance; when associated with Q-432 and D-436.	digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	AGAGGTGGCCCGAGACTGGCT	0.622													T	113860366	C	T	113860366	4	4	74	1	0	0	0	0	0	1	0	0	7444	644	23	1	1488	1	HTR3A	11	113860366	Nonsense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	6406	113860366	21146150	1077	51348											
DSCAML1	57453	broad.mit.edu	37	chr11	117308626	117308626	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccccgcccgtgggtctTggcctcgatgatctcgctga	11	16	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:117308626T>C	uc001prh.1	-	25	4599	c.4597A>G	c.(4597-4599)AAG>GAG	p.K1533E		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1473	Fibronectin type-III 5.|Extracellular (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCGTGGGTCTTGGCCTCGATG	0.652													C	117308626	T	C	117308626	3	2	74	1	0	0	0	0	1	0	0	0	4769	1821	63	3	1780	3	DSCAML1	11	117308626	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	3448260	117308626	17697890	1078	51349											
MLL	4297	broad.mit.edu	37	chr11	118344186	118344187	+	Frame_Shift_Ins	INS	-	-	C													tctgagctctcacctctcacINSccccccgtcttctgtctctt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:118344185_118344186A>AC	uc001pta.3	+	2	2334_2335	c.2311_2312A>AC	c.(2311-2313)accfs	p.T771fs	MLL_uc001ptb.3_Frame_Shift_Ins_p.T771fs|MLL_uc001psz.1_Frame_Shift_Ins_p.T804fs|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	771					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CTCACCTCTCACCCCCCCGTCT	0.45			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								C	118344187	-	C	118344186	7	5	74	1	0	1	1	0	0	0	0	0	9620	507	18	0	2322	0	MLL	11	118344186	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1035560	118344186	16662330	1079	51350											
TMEM25	84866	broad.mit.edu	37	chr11	118404781	118404781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcaacaacgtgcgcctgCcacgggagaacatgtccctc	9	15	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:118404781C>T	uc010rye.1	+	7	1048	c.874C>T	c.(874-876)CCA>TCA	p.P292S	TMEM25_uc001ptk.3_Missense_Mutation_p.P292S|TMEM25_uc001pth.2_Missense_Mutation_p.P248S|TMEM25_uc009zad.2_Missense_Mutation_p.P248S|TMEM25_uc001pti.2_Missense_Mutation_p.P144S|TMEM25_uc010ryf.1_Missense_Mutation_p.P195S|TMEM25_uc001ptl.2_Missense_Mutation_p.P292S|TMEM25_uc001ptm.2_Missense_Mutation_p.P248S|TMEM25_uc001ptn.2_Missense_Mutation_p.P248S	NM_032780	NP_116169	Q86YD3	TMM25_HUMAN	transmembrane protein 25 isoform 1	292	Cytoplasmic (Potential).					extracellular region|integral to membrane|plasma membrane					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CGTGCGCCTGCCACGGGAGAA	0.542													T	118404781	C	T	118404781	3	4	74	1	0	0	0	0	1	0	0	0	16147	739	26	2	896	2	TMEM25	11	118404781	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	60595	118404781	16601735	1080	51351											
BCL9L	283149	broad.mit.edu	37	chr11	118771708	118771708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taatactgatggtgaggtccGaaggccgcctgcctagcccc	12	13	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:118771708G>A	uc001pug.2	-	6	3709	c.2744C>T	c.(2743-2745)TCG>TTG	p.S915L	BCL9L_uc009zal.2_Missense_Mutation_p.S910L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	915	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGTGAGGTCCGAAGGCCGCCT	0.652													A	118771708	G	A	118771708	3	1	74	1	0	0	0	0	1	0	0	0	1382	1059	37	1	1767	1	BCL9L	11	118771708	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	366927	118771708	16234808	1081	51352											
BCL9L	283149	broad.mit.edu	37	chr11	118779296	118779296	+	Frame_Shift_Del	DEL	G	G	-													gcattggcttggctggggcaGgggggcaatgaccgcggggg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:118779295_118779295AG>A	uc001pug.3	-	1	1061	c.96_96CT>T	c.(94-96)cctfs	p.P32fs	BCL9L_uc009zal.3_Frame_Shift_Del_p.P27fs|MIR4492_uc021qrh.1_5'Flank	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	32					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGGCTGGGGCAGGGGGGCAAT	0.587													-	118779296	G	-	118779296	7	5	74	1	0	1	0	1	0	0	0	0	1382	1000	35	0	4432	0	BCL9L	11	118779296	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	7588	118779296	16227220	1082	51353											
TRAPPC4	51399	broad.mit.edu	37	chr11	118889337	118889337	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcactacttatgcccgagcGtgtcgctcccagtgcgcaag	12	14	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:118889337G>A	uc010ryo.1	+	1	97	c.-168G>A	c.(-170--166)GCGTG>GCATG		RPS25_uc001pun.2_5'Flank|TRAPPC4_uc010ryn.1_Translation_Start_Site|TRAPPC4_uc010ryp.1_Translation_Start_Site|TRAPPC4_uc001pup.2_RNA|TRAPPC4_uc010ryq.1_Translation_Start_Site	NM_016146	NP_057230	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		ATGCCCGAGCGTGTCGCTCCC	0.527													A	118889337	G	A	118889337	1	1	74	1	0	0	0	0	0	0	0	0	16458	1160	40	1		1	TRAPPC4	11	118889337	Translation_Start_Site	SNP	G	TCGA-BR-8361-01A-11D-2340-08	110041	118889337	16117179	1083	51354											
MFRP	83552	broad.mit.edu	37	chr11	119215690	119215690	+	Frame_Shift_Del	DEL	G	G	-													ctggcattggtgttgagcgtGgggggaggcacccttccaca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:119215690delG	uc001pwj.2	-	6	826	c.666delC	c.(664-666)CCCfs	p.P222fs	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Frame_Shift_Del_p.P222fs	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	118	C1q.					collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		TGTTGAGCGTGGGGGGAGGCA	0.612													-	119215690	G	-	119215690	7	5	74	1	0	1	0	1	0	0	0	0	9526	1335	47	0	1105	0	MFRP	11	119215690	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	326353	119215690	15790826	1084	51355											
TECTA	7007	broad.mit.edu	37	chr11	121023760	121023760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcctgccccacagctgcGgctgctactccgatggcaaa	10	16	0	0	rs143250687		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:121023760G>A	uc010rzo.1	+	12	4276	c.4276G>A	c.(4276-4278)GGC>AGC	p.G1426S		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1426					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCACAGCTGCGGCTGCTACTC	0.582													A	121023760	G	A	121023760	3	1	74	1	0	0	0	0	1	0	0	0	15744	1116	39	1	4322	1	TECTA	11	121023760	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1808070	121023760	13982756	1085	51356											
SC5DL	6309	broad.mit.edu	37	chr11	121177765	121177765	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgtccttttctcctgcaGcgcctacataaacctcacca	5	15	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:121177765G>A	uc001pxu.2	+	5	593	c.445_splice	c.e5-1	p.R149_splice	SC5DL_uc001pxt.2_3'UTR|SC5DL_uc001pxv.2_Splice_Site_p.R149_splice	NM_006918	NP_008849	O75845	SC5D_HUMAN	sterol-C5-desaturase						fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity			ovary(1)	1		Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	OV - Ovarian serous cystadenocarcinoma(1;0.0334)	BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TTCTCCTGCAGCGCCTACATA	0.418													A	121177765	G	A	121177765	5	1	74	1	0	0	0	0	0	0	1	0	13866	985	34	2	458	2	SC5DL	11	121177765	Splice_Site	SNP	G	TCGA-BR-8361-01A-11D-2340-08	154005	121177765	13828751	1086	51357											
SORL1	6653	broad.mit.edu	37	chr11	121414325	121414325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagccagtgtttgtgtatgGcctcctcacagaacctgggg	13	10	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:121414325G>A	uc001pxx.2	+	13	1834	c.1754G>A	c.(1753-1755)GGC>GAC	p.G585D		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	585	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTTGTGTATGGCCTCCTCACA	0.493													A	121414325	G	A	121414325	3	1	74	1	0	0	0	0	1	0	0	0	14934	1203	42	2	1804	2	SORL1	11	121414325	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	236560	121414325	13592191	1087	51358											
RPUSD4	84881	broad.mit.edu	37	chr11	126075366	126075366	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtgacactctcaccagTgatgggctggagctccacga	11	11	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:126075366T>C	uc001qde.2	-	5	847	c.793A>G	c.(793-795)ACT>GCT	p.T265A	RPUSD4_uc010sbl.1_Missense_Mutation_p.T72A|RPUSD4_uc009zbz.2_Missense_Mutation_p.T234A|RPUSD4_uc009zby.2_RNA	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	265					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)	1	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CTCTCACCAGTGATGGGCTGG	0.577													C	126075366	T	C	126075366	3	2	74	1	0	0	0	0	1	0	0	0	13669	1696	59	3	352	3	RPUSD4	11	126075366	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	4661041	126075366	8931150	1088	51359											
FOXRED1	55572	broad.mit.edu	37	chr11	126146084	126146084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcctggcaccctgcaggGcaccaagctacctgtggagc	13	16	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:126146084G>A	uc001qdi.2	+	8	988	c.941G>A	c.(940-942)GGC>GAC	p.G314D	FOXRED1_uc010sbn.1_Missense_Mutation_p.G144D|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_Missense_Mutation_p.G127D|FOXRED1_uc010sbq.1_Missense_Mutation_p.G181D|FOXRED1_uc001qdj.2_Missense_Mutation_p.G103D|FOXRED1_uc010sbr.1_Missense_Mutation_p.G300D|FOXRED1_uc001qdk.2_Missense_Mutation_p.G103D	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing	314						integral to membrane|mitochondrion	oxidoreductase activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		ACCCTGCAGGGCACCAAGCTA	0.577													A	126146084	G	A	126146084	3	1	74	1	0	0	0	0	1	0	0	0	6033	1203	42	2	971	2	FOXRED1	11	126146084	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	70718	126146084	8860432	1089	51360											
ARHGAP32	9743	broad.mit.edu	37	chr11	128839760	128839760	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttatcatattgggacatgAcaggccctttcaccttctgc	8	11	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:128839760A>C	uc009zcp.2	-	22	5306	c.5306T>G	c.(5305-5307)GTC>GGC	p.V1769G	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.V728G|ARHGAP32_uc001qez.2_Missense_Mutation_p.V1420G	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1769	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						TTGGGACATGACAGGCCCTTT	0.522													C	128839760	A	C	128839760	3	2	74	1	0	0	0	0	1	0	0	0	881	275	10	5	961	5	ARHGAP32	11	128839760	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	2693676	128839760	6166756	1090	51361											
ARHGAP32	9743	broad.mit.edu	37	chr11	128868349	128868349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagaacgtaatgagcttgcCgtgctttttagacactaaaa	8	7	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:128868349C>T	uc009zcp.2	-	11	1018	c.1018G>A	c.(1018-1020)GGC>AGC	p.G340S	ARHGAP32_uc009zcq.1_Missense_Mutation_p.G300S|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_5'UTR|ARHGAP32_uc001qfb.2_Missense_Mutation_p.G125S	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	340					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						ATGAGCTTGCCGTGCTTTTTA	0.383													T	128868349	C	T	128868349	3	4	74	1	0	0	0	0	1	0	0	0	881	652	23	1	5293	1	ARHGAP32	11	128868349	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	28589	128868349	6138167	1091	51362											
PRDM10	56980	broad.mit.edu	37	chr11	129785593	129785593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcagtggggacagcagaCgggaggggtggcgatggtgc	23	6	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:129785593C>T	uc001qfm.2	-	17	2732	c.2500G>A	c.(2500-2502)GTC>ATC	p.V834I	PRDM10_uc001qfj.2_Missense_Mutation_p.V748I|PRDM10_uc001qfk.2_Missense_Mutation_p.V744I|PRDM10_uc001qfl.2_Missense_Mutation_p.V748I|PRDM10_uc010sbx.1_Missense_Mutation_p.V744I|PRDM10_uc001qfn.2_Missense_Mutation_p.V830I|PRDM10_uc009zcs.1_Missense_Mutation_p.V17I	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	834	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GGACAGCAGACGGGAGGGGTG	0.597													T	129785593	C	T	129785593	3	4	74	1	0	0	0	0	1	0	0	0	12451	536	19	1	1006	1	PRDM10	11	129785593	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	917244	129785593	5220923	1092	51363											
ADAMTS8	11095	broad.mit.edu	37	chr11	130278394	130278394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccggagaccttcctgcaGgagttgcctttgcccccaca	10	16	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:130278394G>A	uc001qgg.3	-	8	2422	c.2064C>T	c.(2062-2064)TCC>TCT	p.S688S	ADAMTS8_uc001qgf.2_Silent_p.S169S	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	688	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCTTCCTGCAGGAGTTGCCTT	0.522													A	130278394	G	A	130278394	2	1	74	1	0	0	0	0	0	0	0	1	272	987	35	4		4	ADAMTS8	11	130278394	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	492801	130278394	4728122	1093	51364											
SPATA19	219938	broad.mit.edu	37	chr11	133714470	133714470	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcagtggacatcttctccctTacaccctgggaagggtggtt	11	11	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:133714470T>A	uc001qgv.1	-	3	252	c.201A>T	c.(199-201)GTA>GTT	p.V67V		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19 precursor	67					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane					0	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		TCTTCTCCCTTACACCCTGGG	0.512													A	133714470	T	A	133714470	2	1	74	1	0	0	0	0	0	0	0	1	15003	1741	61	5		5	SPATA19	11	133714470	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	3436076	133714470	1292046	1094	51365											
IGSF9B	22997	broad.mit.edu	37	chr11	133801456	133801456	+	Frame_Shift_Del	DEL	G	G	-													cctggtagcaccgtgaaataGggggggtcctggggaggaaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:133801456delG	uc001qgx.3	-	10	1491	c.1260delC	c.(1258-1260)CCCfs	p.P420fs	IGSF9B_uc001qgy.1_Frame_Shift_Del_p.P262fs	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	420	Extracellular (Potential).|Ig-like 5.					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCGTGAAATAGGGGGGGTCCT	0.652													-	133801456	G	-	133801456	7	5	74	1	0	1	0	1	0	0	0	0	7606	987	35	0	2829	0	IGSF9B	11	133801456	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	86986	133801456	1205060	1095	51366											
NCAPD3	23310	broad.mit.edu	37	chr11	134023240	134023240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgacccctgctccaaacGtgacatcactgatgctctct	6	15	2	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:134023240G>A	uc001qhd.1	-	33	4877	c.4271C>T	c.(4270-4272)ACG>ATG	p.T1424M	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Missense_Mutation_p.T374M	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1424					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TGCTCCAAACGTGACATCACT	0.542													A	134023240	G	A	134023240	3	1	74	1	0	0	0	0	1	0	0	0	10206	1145	40	1	237	1	NCAPD3	11	134023240	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	221784	134023240	983276	1096	51367											
NCAPD3	23310	broad.mit.edu	37	chr11	134048586	134048586	+	Frame_Shift_Del	DEL	G	G	-													catgacagaacctctgacctGggggggtggctgagacgctg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:134048585_134048585TG>T	uc001qhd.1	-	21	3332	c.2726_2726CA>A	c.(2725-2727)cagfs	p.Q909fs	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	909					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.Q909fs*12(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGG	0.522													-	134048586	G	-	134048586	7	5	74	1	0	1	0	1	0	0	0	0	10206	1357	47	0	1827	0	NCAPD3	11	134048586	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	25346	134048586	957930	1097	51368											
GLB1L3	112937	broad.mit.edu	37	chr11	134147764	134147764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggagtactggagggaccGcctgctgaagctgaaggcct	16	10	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr11:134147764G>A	uc009zdf.2	+	3	680	c.320G>A	c.(319-321)CGC>CAC	p.R107H	GLB1L3_uc010scs.1_Missense_Mutation_p.R107H|GLB1L3_uc010sct.1_5'UTR	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1 like 3	107					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TGGAGGGACCGCCTGCTGAAG	0.612													A	134147764	G	A	134147764	3	1	74	1	0	0	0	0	1	0	0	0	6430	1087	38	1	330	1	GLB1L3	11	134147764	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	99178	134147764	858752	1098	51369											
CACNA2D4	93589	broad.mit.edu	37	chr12	1992105	1992105	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatggggcggctgagcacGtgcaggtattccatcacgtt	13	11	1	1	rs78872077	by1000genomes	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:1992105G>A	uc001qjp.2	-	13	1644	c.1413C>T	c.(1411-1413)CAC>CAT	p.H471H	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Silent_p.H359H	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	471	VWFA.|Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGCTGAGCACGTGCAGGTATT	0.622													A	1992105	G	A	1992105	2	1	74	1	0	0	0	0	0	0	0	1	2551	1136	40	1		1	CACNA2D4	12	1992105	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08		1992105	131859790	1099	51370											
CACNA2D4	93589	broad.mit.edu	37	chr12	2016659	2016659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaatattgccaggtcaacGttgggtctctctggaagttc	10	9	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:2016659G>A	uc001qjp.2	-	6	959	c.728C>T	c.(727-729)ACG>ATG	p.T243M	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.T243M	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	243	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCAGGTCAACGTTGGGTCTCT	0.458													A	2016659	G	A	2016659	3	1	74	1	0	0	0	0	1	0	0	0	2551	1145	40	1	2817	1	CACNA2D4	12	2016659	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	24554	2016659	131835236	1100	51371											
TULP3	7289	broad.mit.edu	37	chr12	3040324	3040324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgtcacagtaagatgtcGgataatccgggataaaaggg	14	5	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:3040324G>A	uc010seh.1	+	6	695	c.614G>A	c.(613-615)CGG>CAG	p.R205Q	TULP3_uc010sef.1_RNA|TULP3_uc009zec.1_5'UTR|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.R205Q|TULP3_uc010sei.1_Missense_Mutation_p.R62Q	NM_003324	NP_003315	O75386	TULP3_HUMAN	tubby like protein 3 isoform 1	205					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding				0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GTAAGATGTCGGATAATCCGG	0.473													A	3040324	G	A	3040324	3	1	74	1	0	0	0	0	1	0	0	0	16772	1116	39	1	636	1	TULP3	12	3040324	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1023665	3040324	130811571	1101	51372											
TEAD4	7004	broad.mit.edu	37	chr12	3131079	3131079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgacccctacctcgaagccGtggacatccgccaaatctat	8	16	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:3131079G>A	uc010sej.1	+	10	1067	c.790G>A	c.(790-792)GTG>ATG	p.V264M	TEAD4_uc010sek.1_Missense_Mutation_p.V221M|TEAD4_uc001qln.2_Missense_Mutation_p.V136M	NM_003213	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4 isoform 1	265					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CCTCGAAGCCGTGGACATCCG	0.453													A	3131079	G	A	3131079	3	1	74	1	0	0	0	0	1	0	0	0	15738	1145	40	1	823	1	TEAD4	12	3131079	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	90755	3131079	130720816	1102	51373											
CCND2	894	broad.mit.edu	37	chr12	4388038	4388038	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccagcagcgggagaagctgtCtctgatccgcaagcatgctc	12	13	1	2	rs143681287		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:4388038C>T	uc001qmo.2	+	3	829	c.524C>T	c.(523-525)TCT>TTT	p.S175F		NM_001759	NP_001750	P30279	CCND2_HUMAN	cyclin D2	175					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1)	3			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GAGAAGCTGTCTCTGATCCGC	0.572			T	IGL@	NHL,CLL								T	4388038	C	T	4388038	3	4	74	1	0	0	0	0	1	0	0	0	2917	913	32	4	534	4	CCND2	12	4388038	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1256959	4388038	129463857	1103	51374											
DYRK4	8798	broad.mit.edu	37	chr12	4719362	4719362	+	Frame_Shift_Del	DEL	A	A	-													atataaccaacaacagggggAaaaaaagatacccagattcc					rs80196697		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:4719361_4719361GA>G	uc009zeh.1	+	12	1443	c.1401_1401GA>G	c.(1399-1401)gggfs	p.G467fs	DYRK4_uc001qmx.3_Frame_Shift_Del_p.G352fs|DYRK4_uc001qmy.2_Frame_Shift_Del_p.G352fs|DYRK4_uc021qtq.1_Frame_Shift_Del_p.G206fs|DYRK4_uc001qmz.2_Frame_Shift_Del_p.G66fs|DYRK4_uc001qna.2_5'UTR|DYRK4_uc010ser.2_5'UTR	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	352						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G754G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ACAACAGGGGGAAAAAAAGAT	0.393													-	4719362	A	-	4719362	7	5	74	1	0	1	0	1	0	0	0	0	4858	247	9	0	1091	0	DYRK4	12	4719362	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	331324	4719362	129132533	1104	51375											
KCNA1	3736	broad.mit.edu	37	chr12	5020887	5020887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcccctggacatgttctccGaggagatcaagttttacgag	11	10	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:5020887G>A	uc001qnh.2	+	2	1448	c.343G>A	c.(343-345)GAG>AAG	p.E115K		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	115					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CATGTTCTCCGAGGAGATCAA	0.632													A	5020887	G	A	5020887	3	1	74	1	0	0	0	0	1	0	0	0	8001	1059	37	1	345	1	KCNA1	12	5020887	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	301525	5020887	128831008	1105	51376											
LPCAT3	10162	broad.mit.edu	37	chr12	7086386	7086388	+	In_Frame_Del	DEL	GAA	GAA	-													aatatgaatagtaggctcagGaagaagatgtggccaaggaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:7086385_7086387GGAA>G	uc001qsi.3	-	11	1499_1501	c.1385_1387TTCC>C	c.(1384-1389)ttcctg>tCtg	p.462_463FL>S	EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.2_In_Frame_Del_p.356_357FL>S	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 3 (LPCAT3), mRNA.	462					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	p.F461I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AGTAGGCTCAGGAAGAAGATGTG	0.419													-	7086388	GAA	-	7086386	7	5	74	1	0	1	0	1	0	0	0	0	8912	1165	41	0	81	0	LPCAT3	12	7086386	In_Frame_Del	DEL	GAA	TCGA-BR-8361-01A-11D-2340-08	2065499	7086386	126765509	1106	51377											
C1R	715	broad.mit.edu	37	chr12	7188376	7188376	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctagcttcatgagctcttcCacatttgtgtggcccaggaa	9	12	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:7188376C>A	uc010sfy.1	-	10	1637	c.1578G>T	c.(1576-1578)GTG>GTT	p.V526V		NM_001733	NP_001724	P00736	C1R_HUMAN	complement component 1, r subcomponent	526	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity				0					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGAGCTCTTCCACATTTGTGT	0.572													A	7188376	C	A	7188376	2	1	74	1	0	0	0	0	0	0	0	1	1972	581	21	5		5	C1R	12	7188376	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	101990	7188376	126663519	1107	51378											
CLEC6A	93978	broad.mit.edu	37	chr12	8618103	8618103	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggatgttgcccagcttctTggaagtcatttggttccagt	13	8	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:8618103T>C	uc001qum.1	+	4	364	c.247T>C	c.(247-249)TGG>CGG	p.W83R		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	dectin-2	83	Extracellular (Potential).				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)	1	Lung SC(5;0.184)					CCCAGCTTCTTGGAAGTCATT	0.398													C	8618103	T	C	8618103	3	2	74	1	0	0	0	0	1	0	0	0	3520	1812	63	3	261	3	CLEC6A	12	8618103	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	1429727	8618103	125233792	1108	51379											
PHC1	1911	broad.mit.edu	37	chr12	9085325	9085325	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacacacctccagttggcGcagcagcagcagcagcaaca	10	15	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:9085325G>A	uc001qvd.2	+	8	1428	c.1272G>A	c.(1270-1272)GCG>GCA	p.A424A	PHC1_uc001qvc.1_Silent_p.A379A|PHC1_uc010sgn.1_Silent_p.A424A|PHC1_uc001qve.2_Silent_p.A424A	NM_004426	NP_004417	P78364	PHC1_HUMAN	polyhomeotic 1-like	424					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|breast(1)	2						TCCAGTTGGCgcagcagcagc	0.458													A	9085325	G	A	9085325	2	1	74	1	0	0	0	0	0	0	0	1	11816	1074	38	1		1	PHC1	12	9085325	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	467222	9085325	124766570	1109	51380											
CSDA	8531	broad.mit.edu	37	chr12	10862613	10862613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgagggcgatactgggggCggcgcagctgattccgggcc	18	11	0	2	rs146058214		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:10862613C>T	uc001qyt.2	-	6	917	c.674G>A	c.(673-675)CGC>CAC	p.R225H	CSDA_uc001qyu.2_Intron	NM_003651	NP_003642	P16989	DBPA_HUMAN	cold shock domain protein A isoform a	225					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|lung(1)|large_intestine(1)	4	Glioma(1;0.155)					ATACTGGGGGCGGCGCAGCTG	0.642													T	10862613	C	T	10862613	3	4	74	1	0	0	0	0	1	0	0	0	3927	768	27	1	460	1	CSDA	12	10862613	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1777288	10862613	122989282	1110	51381											
TAS2R20	259295	broad.mit.edu	37	chr12	11150028	11150028	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtccacacatttatataCgtgtgtttcatcacaaggtg	7	9	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:11150028C>T	uc001qzm.2	-	1	447	c.447G>A	c.(445-447)ACG>ACA	p.T149T	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176889	NP_795370	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	149	Extracellular (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity				0						CATTTATATACGTGTGTTTCA	0.388													T	11150028	C	T	11150028	2	4	74	1	0	0	0	0	0	0	0	1	15568	523	19	1		1	TAS2R20	12	11150028	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	287415	11150028	122701867	1111	51382											
DUSP16	80824	broad.mit.edu	37	chr12	12672854	12672854	+	Frame_Shift_Del	DEL	A	A	-													ttacccagaagtacagtgagAaaacagtctgaagagagaga							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:12672854delA	uc001rao.1	-	3	941	c.309delT	c.(307-309)TTTfs	p.F103fs	DUSP16_uc001ran.1_Frame_Shift_Del_p.F10fs	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	103	Rhodanese.				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GTACAGTGAGAAAACAGTCTG	0.443													-	12672854	A	-	12672854	7	5	74	1	0	1	0	1	0	0	0	0	4816	243	9	0	1708	0	DUSP16	12	12672854	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	1522826	12672854	121179041	1112	51383											
MGST1	4257	broad.mit.edu	37	chr12	16510603	16510603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaatgccaagaagtatcttcGaacagatgacagagtagaac	9	7	1	5			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:16510603G>A	uc001rdf.2	+	3	256	c.191G>A	c.(190-192)CGA>CAA	p.R64Q	MGST1_uc001rdg.2_Missense_Mutation_p.R64Q|MGST1_uc009zih.1_RNA|MGST1_uc001rdh.2_Missense_Mutation_p.R64Q|MGST1_uc001rdi.2_Missense_Mutation_p.R64Q	NM_145792	NP_665735	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	64	Helical; (By similarity).				protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity				0		Hepatocellular(102;0.121)			Glutathione(DB00143)	AAGTATCTTCGAACAGATGAC	0.363													A	16510603	G	A	16510603	3	1	74	1	0	0	0	0	1	0	0	0	9560	1058	37	1	197	1	MGST1	12	16510603	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	3837749	16510603	117341292	1113	51384											
ITPR2	3709	broad.mit.edu	37	chr12	26493202	26493202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcattttgctcactgtcGccttcattgctaacgaggga	8	10	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:26493202G>A	uc001rhg.2	-	56	8334	c.7917C>T	c.(7915-7917)GGC>GGT	p.G2639G		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2639	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					GCTCACTGTCGCCTTCATTGC	0.488													A	26493202	G	A	26493202	2	1	74	1	0	0	0	0	0	0	0	1	7921	1074	38	1		1	ITPR2	12	26493202	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	9982599	26493202	107358693	1114	51385											
ITPR2	3709	broad.mit.edu	37	chr12	26848568	26848568	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccttcattttgggcatctcGataatcaggattaagctaga	8	8	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:26848568G>A	uc001rhg.2	-	10	1384	c.967C>T	c.(967-969)CGA>TGA	p.R323*		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	323	Cytoplasmic (Potential).|MIR 4.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					TGGGCATCTCGATAATCAGGA	0.303													A	26848568	G	A	26848568	4	1	74	1	0	0	0	0	0	1	0	0	7921	1066	37	1	7330	1	ITPR2	12	26848568	Nonsense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	355366	26848568	107003327	1115	51386											
TM7SF3	51768	broad.mit.edu	37	chr12	27126980	27126981	+	Frame_Shift_Del	DEL	CT	CT	-													gggttaatcggccatagagcCtctctctcaatggaggaatg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:27126979_27126980CCT>C	uc010sjl.2	-	11	1869_1870	c.1631_1632AGG>G	c.(1630-1632)aggfs	p.R544fs		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.	544						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					GGCCATAGAGCCTCTCTCTCAA	0.525													-	27126981	CT	-	27126980	7	5	74	1	0	1	0	1	0	0	0	0	15972	681	24	0	85	0	TM7SF3	12	27126980	Frame_Shift_Del	DEL	CT	TCGA-BR-8361-01A-11D-2340-08	278412	27126980	106724915	1116	51387											
DDX11	1663	broad.mit.edu	37	chr12	31244687	31244687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatcagatgctgctgcatgCggccactcggcaggccgcgg	14	14	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:31244687C>T	uc001rjt.1	+	10	1375	c.1124C>T	c.(1123-1125)GCG>GTG	p.A375V	DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.A375V|DDX11_uc001rjs.1_Missense_Mutation_p.A375V|DDX11_uc001rju.1_Missense_Mutation_p.A53V|DDX11_uc001rjv.1_Missense_Mutation_p.A375V|DDX11_uc001rjw.1_Missense_Mutation_p.A349V|DDX11_uc001rjx.1_Missense_Mutation_p.A53V|DDX11_uc009zjn.1_RNA	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	375	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CTGCTGCATGCGGCCACTCGG	0.672										Multiple Myeloma(12;0.14)			T	31244687	C	T	31244687	3	4	74	1	0	0	0	0	1	0	0	0	4343	768	27	1	1158	1	DDX11	12	31244687	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	4117707	31244687	102607208	1117	51388											
C12orf35	55196	broad.mit.edu	37	chr12	32136019	32136019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatttcaaagcctgctaaCatccacgttaagagtccttg	8	10	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:32136019C>T	uc001rks.2	+	4	2544	c.2130C>T	c.(2128-2130)AAC>AAT	p.N710N		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	710										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			AGCCTGCTAACATCCACGTTA	0.393													T	32136019	C	T	32136019	2	4	74	1	0	0	0	0	0	0	0	1	1682	477	17	4		4	C12orf35	12	32136019	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	891332	32136019	101715876	1118	51389											
BICD1	636	broad.mit.edu	37	chr12	32480705	32480705	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaattaaggccttaaaggAgaaatataataaatctgtag	8	3	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:32480705A>G	uc001rku.2	+	5	1397	c.1316A>G	c.(1315-1317)GAG>GGG	p.E439G	BICD1_uc001rkv.2_Missense_Mutation_p.E439G|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	439	Potential.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GCCTTAAAGGAGAAATATAAT	0.393													G	32480705	A	G	32480705	3	3	74	1	0	0	0	0	1	0	0	0	1428	304	11	3	1334	3	BICD1	12	32480705	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	344686	32480705	101371190	1119	51390											
DNM1L	10059	broad.mit.edu	37	chr12	32893450	32893450	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagaaagaatattcaagaCaggttagtattacttaatat	7	4	2	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:32893450C>T	uc001rld.2	+	18	2153	c.1992C>T	c.(1990-1992)GAC>GAT	p.D664D	DNM1L_uc001rle.2_Silent_p.D638D|DNM1L_uc001rlf.2_Silent_p.D627D|DNM1L_uc010skh.1_Silent_p.D730D|DNM1L_uc001rlg.2_Silent_p.D719D|DNM1L_uc001rlh.2_Silent_p.D706D|DNM1L_uc010ski.1_Silent_p.D461D	NM_012062	NP_036192	O00429	DNM1L_HUMAN	dynamin 1-like isoform 1	664	GED.|Interaction with GSK3B.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ATATTCAAGACAGGTTAGTAT	0.313													T	32893450	C	T	32893450	2	4	74	1	0	0	0	0	0	0	0	1	4671	477	17	4		4	DNM1L	12	32893450	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	412745	32893450	100958445	1120	51391											
LRRK2	120892	broad.mit.edu	37	chr12	40704239	40704239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctttccctccaggctcgcGcttcttcttcccctgtgatt	7	16	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:40704239G>A	uc001rmg.3	+	31	4445	c.4324G>A	c.(4324-4326)GCT>ACT	p.A1442T	LRRK2_uc009zjw.2_Missense_Mutation_p.A280T|LRRK2_uc001rmi.2_Missense_Mutation_p.A275T	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1442	Roc.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CCAGGCTCGCGCTTCTTCTTC	0.463													A	40704239	G	A	40704239	3	1	74	1	0	0	0	0	1	0	0	0	9033	1087	38	1	4446	1	LRRK2	12	40704239	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	7810789	40704239	93147656	1121	51392											
GXYLT1	283464	broad.mit.edu	37	chr12	42491721	42491722	+	Frame_Shift_Ins	INS	-	-	A													aaataattacctggattatgINSaaaaaacacgatattcaata							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:42491721_42491722insA	uc001rms.3	-	6	1203_1204	c.978_979insT	c.(976-981)TTTCATfs	p.F326fs	GXYLT1_uc001rmt.3_Frame_Shift_Ins_p.F295fs	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	glycosyltransferase 8 domain containing 3	326_327	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0						CCTGGATTATGAAAAAACACGA	0.297													A	42491722	-	A	42491721	7	5	74	1	0	1	1	0	0	0	0	0	6903	1290	45	0	355	0	GXYLT1	12	42491721	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1787482	42491721	91360174	1122	51393	210	2									
GXYLT1	283464	broad.mit.edu	37	chr12	42491722	42491723	+	Frame_Shift_Ins	INS	-	-	A													aataattacctggattatgaINSaaaaacacgatattcaatag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:42491721_42491722G>GA	uc001rms.4	-	5	1203_1204	c.978_979C>TC	c.(976-981)tttcatfs	p.F326fs	GXYLT1_uc001rmt.4_Frame_Shift_Ins_p.F295fs	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	326					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CCTGGATTATGAAAAAACACGA	0.297													A	42491723	-	A	42491722	7	5	74	1	0	1	1	0	0	0	0	0	6903	243	9	0	356	0	GXYLT1	12	42491722	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1	42491722	91360173	1123	51394	210	2									
SFRS2IP	9169	broad.mit.edu	37	chr12	46320657	46320658	+	Frame_Shift_Ins	INS	-	-	G													ctttttgttctacatcttgaINSgggggacctagaatgagatc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:46320657_46320658insG	uc001rox.2	-	11	3113_3114	c.2826_2827insC	c.(2824-2829)CCCTCAfs	p.P942fs	SFRS2IP_uc001row.2_Frame_Shift_Ins_p.P627fs|SFRS2IP_uc001roy.1_Frame_Shift_Ins_p.P1016fs	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	942_943	Arg-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		CTACATCTTGAGGGGGACCTAG	0.465													G	46320658	-	G	46320657	7	5	74	1	0	1	1	0	0	0	0	0	14177	304	11	0	1584	0	SFRS2IP	12	46320657	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	3828935	46320657	87531238	1124	51395											
SLC38A4	55089	broad.mit.edu	37	chr12	47173580	47173580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacctaaatttttaaggagcGaaagtggaagaataattcca	8	5	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:47173580G>A	uc001rpi.2	-	9	1040	c.641C>T	c.(640-642)TCG>TTG	p.S214L	SLC38A4_uc001rpj.2_Missense_Mutation_p.S214L|SLC38A4_uc009zkl.2_Missense_Mutation_p.S214L	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	214	Helical; (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Lung SC(27;0.192)|Renal(347;0.236)					TTTAAGGAGCGAAAGTGGAAG	0.308													A	47173580	G	A	47173580	3	1	74	1	0	0	0	0	1	0	0	0	14606	1059	37	1	1038	1	SLC38A4	12	47173580	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	852923	47173580	86678315	1125	51396											
FAM113B	91523	broad.mit.edu	37	chr12	47629705	47629705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccaacagaaatcacccgGccttacctctgtccccaccc	6	19	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:47629705G>A	uc001rpn.2	+	4	1590	c.859G>A	c.(859-861)GCC>ACC	p.A287T	FAM113B_uc010slj.1_Missense_Mutation_p.A167T|FAM113B_uc001rpq.2_Missense_Mutation_p.A287T	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	287	Pro-rich.						hydrolase activity			skin(3)|ovary(2)	5	Renal(347;0.138)|Lung SC(27;0.192)					AAATCAcccggccttacctct	0.299													A	47629705	G	A	47629705	3	1	74	1	0	0	0	0	1	0	0	0	5402	1203	42	2	861	2	FAM113B	12	47629705	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	456125	47629705	86222190	1126	51397											
MLL2	8085	broad.mit.edu	37	chr12	49415900	49415900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaatgtcacgacttcggCcacacagttaggggcacagg	12	11	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:49415900C>T	uc001rta.3	-	53	16447	c.16447G>A	c.(16447-16449)GCC>ACC	p.A5483T		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5483	SET.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						ACGACTTCGGCCACACAGTTA	0.498			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			T	49415900	C	T	49415900	3	4	74	1	0	0	0	0	1	0	0	0	9621	739	26	2	174	2	MLL2	12	49415900	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1786195	49415900	84435995	1127	51398											
MLL2	8085	broad.mit.edu	37	chr12	49421039	49421039	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggggccgagagctgtcGcacatccagattggagacat	15	9	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:49421039G>A	uc001rta.3	-	48	14710	c.14710C>T	c.(14710-14712)CGA>TGA	p.R4904*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4904					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GAGAGCTGTCGCACATCCAGA	0.612			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49421039	G	A	49421039	4	1	74	1	0	0	0	0	0	1	0	0	9621	1095	38	1	1931	1	MLL2	12	49421039	Nonsense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	5139	49421039	84430856	1128	51399											
MLL2	8085	broad.mit.edu	37	chr12	49432347	49432347	+	Frame_Shift_Del	DEL	G	G	-													gtggggctgagggtttctgtGggggaagacctgataccgcc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:49432346_49432346TG>T	uc001rta.4	-	33	8793	c.8793_8793CA>A	c.(8791-8793)ccafs	p.P2931fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2931	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AGGGTTTCTGTGGGGGAAGAC	0.602			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	49432347	G	-	49432347	7	5	74	1	0	1	0	1	0	0	0	0	9621	1348	47	0	7905	0	MLL2	12	49432347	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	11308	49432347	84419548	1129	51400											
PRPH	5630	broad.mit.edu	37	chr12	49689013	49689013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccgtcgggcctccgggcCggcttcagctccacctcata	10	19	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:49689013C>T	uc001rtu.2	+	1	105	c.30C>T	c.(28-30)GCC>GCT	p.A10A		NM_006262	NP_006253	P41219	PERI_HUMAN	peripherin	10	Head.						structural molecule activity				0						GCCTCCGGGCCGGCTTCAGCT	0.692													T	49689013	C	T	49689013	2	4	74	1	0	0	0	0	0	0	0	1	12576	639	23	1		1	PRPH	12	49689013	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	256666	49689013	84162882	1130	51401											
SPATS2	65244	broad.mit.edu	37	chr12	49883260	49883260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttccagataaatgcggtaCgtgcaatagttcctaataag	8	7	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:49883260C>T	uc001rud.2	+	5	1107	c.118C>T	c.(118-120)CGT>TGT	p.R40C	SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Missense_Mutation_p.R40C|SPATS2_uc001ruf.2_Missense_Mutation_p.R40C|SPATS2_uc001rug.2_Missense_Mutation_p.R40C	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	40						cytoplasm				breast(1)	1						AAATGCGGTACGTGCAATAGT	0.378													T	49883260	C	T	49883260	3	4	74	1	0	0	0	0	1	0	0	0	15018	536	19	1	128	1	SPATS2	12	49883260	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	194247	49883260	83968635	1131	51402											
KRT84	3890	broad.mit.edu	37	chr12	52779183	52779183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctacagctgctatccgggGtgagtacgatccaaaggtga	13	10	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:52779183G>A	uc001sah.1	-	1	235	c.187C>T	c.(187-189)CCC>TCC	p.P63S		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	63	Head.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTATCCGGGGTGAGTACGAT	0.597													A	52779183	G	A	52779183	3	1	74	1	0	0	0	0	1	0	0	0	8498	1261	44	4	1651	4	KRT84	12	52779183	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2895923	52779183	81072712	1132	51403											
KRT5	3852	broad.mit.edu	37	chr12	52912851	52912851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtactgctcgaacaacgGctccaggttctgcctcacag	10	13	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:52912851G>A	uc001san.2	-	2	812	c.649C>T	c.(649-651)CCG>TCG	p.P217S	KRT5_uc009zmh.2_Missense_Mutation_p.P217S	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	217	Rod.|Linker 1.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGAACAACGGCTCCAGGTTC	0.602													A	52912851	G	A	52912851	3	1	74	1	0	0	0	0	1	0	0	0	8479	1203	42	2	1155	2	KRT5	12	52912851	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	133668	52912851	80939044	1133	51404											
ESPL1	9700	broad.mit.edu	37	chr12	53685587	53685587	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgaatgaggcagtaggAcgtctacagggcctgacagt	13	10	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:53685587A>G	uc001sck.2	+	26	5725	c.5634A>G	c.(5632-5634)GGA>GGG	p.G1878G	ESPL1_uc001scj.2_Silent_p.G1553G	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1878					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						AGGCAGTAGGACGTCTACAGG	0.612													G	53685587	A	G	53685587	2	3	74	1	0	0	0	0	0	0	0	1	5253	262	10	3		3	ESPL1	12	53685587	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	772736	53685587	80166308	1134	51405											
HOXC5	3222	broad.mit.edu	37	chr12	54428098	54428098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccgaaccagttacacgcGctaccagactctggaactcg	9	15	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:54428098G>A	uc001sew.2	+	2	566	c.491G>A	c.(490-492)CGC>CAC	p.R164H	HOXC5_uc001set.2_RNA|HOXC4_uc001seu.2_Intron	NM_018953	NP_061826	Q00444	HXC5_HUMAN	homeobox C5	164	Homeobox.				regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AGTTACACGCGCTACCAGACT	0.562													A	54428098	G	A	54428098	3	1	74	1	0	0	0	0	1	0	0	0	7314	1087	38	1	497	1	HOXC5	12	54428098	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	742511	54428098	79423797	1135	51406											
NFE2	4778	broad.mit.edu	37	chr12	54686848	54686848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgagggataatcctgagtcGgattctgggtcttcttgggg	15	6	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:54686848G>A	uc009znk.2	-	2	942	c.432C>T	c.(430-432)TCC>TCT	p.S144S	NFE2_uc001sfq.2_Silent_p.S144S|NFE2_uc001sfr.3_Silent_p.S144S|NFE2_uc009znl.2_Silent_p.S144S	NM_006163	NP_006154	Q16621	NFE2_HUMAN	nuclear factor, erythroid derived 2 isoform 1	144	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding				0						ATCCTGAGTCGGATTCTGGGT	0.587													A	54686848	G	A	54686848	2	1	74	1	0	0	0	0	0	0	0	1	10366	1103	39	1		1	NFE2	12	54686848	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	258750	54686848	79165047	1136	51407											
PDE1B	5153	broad.mit.edu	37	chr12	54971060	54971060	+	Frame_Shift_Del	DEL	C	C	-													gtccccctgtgaagaagaggCccccccatcccctgccgaag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:54971059_54971059GC>G	uc001sgd.2	+	14	1951	c.1558_1558GC>G	c.(1558-1560)gccfs	p.A520fs	PDE1B_uc010soz.2_Frame_Shift_Del_p.A383fs|PDE1B_uc010spa.1_Frame_Shift_Del_p.A479fs|PDE1B_uc001sge.3_Frame_Shift_Del_p.A500fs|PDE1B_uc001sgf.3_Frame_Shift_Del_p.A383fs|PDE1B_uc009znq.3_Frame_Shift_Del_p.A316fs	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	520					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGAAGAAGAGGCCCCCCCATC	0.562													-	54971060	C	-	54971060	7	5	74	1	0	1	0	1	0	0	0	0	11634	739	26	0	1670	0	PDE1B	12	54971060	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	284212	54971060	78880835	1137	51408											
LRP1	4035	broad.mit.edu	37	chr12	57571281	57571281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccatgagtggggctgggcGccgcaccgtgcaccgggaga	17	13	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:57571281G>A	uc001snd.2	+	26	4734	c.4268G>A	c.(4267-4269)CGC>CAC	p.R1423H		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1423	LDL-receptor class B 10.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.R1423C(1)		ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGGGCTGGGCGCCGCACCGTG	0.667													A	57571281	G	A	57571281	3	1	74	1	0	0	0	0	1	0	0	0	8951	1087	38	1	4370	1	LRP1	12	57571281	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2600221	57571281	76280614	1138	51409											
LRP1	4035	broad.mit.edu	37	chr12	57573274	57573274	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgtgtactggtctgacgTgcggacacaggccatcaagc	14	11	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:57573274T>C	uc001snd.2	+	29	5367	c.4901T>C	c.(4900-4902)GTG>GCG	p.V1634A		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1634	LDL-receptor class B 13.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGGTCTGACGTGCGGACACAG	0.587													C	57573274	T	C	57573274	3	2	74	1	0	0	0	0	1	0	0	0	8951	1696	59	3	5015	3	LRP1	12	57573274	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	1993	57573274	76278621	1139	51410											
MARS	4141	broad.mit.edu	37	chr12	57906729	57906729	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgagctgcttaacaaccTgggcaacttcatcaacaggt	8	11	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:57906729T>C	uc001sog.2	+	15	1972	c.1949T>C	c.(1948-1950)CTG>CCG	p.L650P	MARS_uc001sof.1_RNA|MARS_uc010srq.1_Missense_Mutation_p.L416P|MARS_uc001soh.1_Missense_Mutation_p.L45P	NM_004990	NP_004981	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	650					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			ovary(3)|central_nervous_system(1)|pancreas(1)	5			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CTTAACAACCTGGGCAACTTC	0.527													C	57906729	T	C	57906729	3	2	74	1	0	0	0	0	1	0	0	0	9316	1580	55	3	2007	3	MARS	12	57906729	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	333455	57906729	75945166	1140	51411											
B4GALNT1	2583	broad.mit.edu	37	chr12	58022542	58022542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgtaggggccactaacgCgctctggcttgtcgctgtcg	13	14	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:58022542C>T	uc001spg.1	-	8	1388	c.956G>A	c.(955-957)CGC>CAC	p.R319H	B4GALNT1_uc010sru.1_Missense_Mutation_p.R264H|B4GALNT1_uc010srv.1_Missense_Mutation_p.R286H	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	319	Lumenal (Potential).				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity				0	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GCCACTAACGCGCTCTGGCTT	0.607													T	58022542	C	T	58022542	3	4	74	1	0	0	0	0	1	0	0	0	1266	768	27	1	661	1	B4GALNT1	12	58022542	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	115813	58022542	75829353	1141	51412											
PPM1H	57460	broad.mit.edu	37	chr12	63042385	63042385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagcacaccccgggcacGcatcaccaggtcctgagctg	10	17	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:63042385G>A	uc001srk.3	-	10	1578	c.1429C>T	c.(1429-1431)CGT>TGT	p.R477C		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	protein phosphatase 1H (PP2C domain containing)	477	PP2C-like.						phosphoprotein phosphatase activity			lung(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CCCCGGGCACGCATCACCAGG	0.527													A	63042385	G	A	63042385	3	1	74	1	0	0	0	0	1	0	0	0	12341	1087	38	1	119	1	PPM1H	12	63042385	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	5019843	63042385	70809510	1142	51413											
SRGAP1	57522	broad.mit.edu	37	chr12	64458914	64458914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtgtgccaggtcagtgCccagcagccagtccaggcag	14	13	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:64458914C>T	uc010ssp.1	+	8	1096	c.1040C>T	c.(1039-1041)GCC>GTC	p.A347V	SRGAP1_uc001srt.2_Missense_Mutation_p.A347V|SRGAP1_uc001srv.2_Missense_Mutation_p.A307V	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	347					axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGGTCAGTGCCCAGCAGCCA	0.532													T	64458914	C	T	64458914	3	4	74	1	0	0	0	0	1	0	0	0	15144	739	26	2	1070	2	SRGAP1	12	64458914	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1416529	64458914	69392981	1143	51414											
C12orf66	144577	broad.mit.edu	37	chr12	64609707	64609707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaatgaagtatagatggtgCggatggaatccttcctgctg	13	7	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:64609707C>T	uc001srw.3	-	2	331	c.272G>A	c.(271-273)CGC>CAC	p.R91H	C12orf66_uc009zql.2_Missense_Mutation_p.R38H	NM_152440	NP_689653	Q96MD2	CL066_HUMAN	hypothetical protein LOC144577	91										ovary(1)	1						ATAGATGGTGCGGATGGAATC	0.507													T	64609707	C	T	64609707	3	4	74	1	0	0	0	0	1	0	0	0	1709	768	27	1	1073	1	C12orf66	12	64609707	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	150793	64609707	69242188	1144	51415											
IRAK3	11213	broad.mit.edu	37	chr12	66641588	66641588	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggagaatgtaccaagTattccagtggaagatgatga	11	6	0	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:66641588T>C	uc001sth.2	+	12	1530	c.1428T>C	c.(1426-1428)AGT>AGC	p.S476S	IRAK3_uc010ssy.1_Silent_p.S415S	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	476					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8				GBM - Glioblastoma multiforme(28;0.0203)		ATGTACCAAGTATTCCAGTGG	0.413													C	66641588	T	C	66641588	2	2	74	1	0	0	0	0	0	0	0	1	7824	1635	57	3		3	IRAK3	12	66641588	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	2031881	66641588	67210307	1145	51416											
GRIP1	23426	broad.mit.edu	37	chr12	66773080	66773080	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccactggctgtggaccggtcCcagtcttcataactcagccc	9	16	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:66773080C>A	uc001stk.2	-	19	2686	c.2445G>T	c.(2443-2445)TGG>TGT	p.W815C	GRIP1_uc010sta.1_Missense_Mutation_p.W759C|GRIP1_uc001stj.2_Missense_Mutation_p.W597C|GRIP1_uc001stl.1_Missense_Mutation_p.W707C|GRIP1_uc001stm.2_Missense_Mutation_p.W815C	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	867					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TGGACCGGTCCCAGTCTTCAT	0.517													A	66773080	C	A	66773080	3	1	74	1	0	0	0	0	1	0	0	0	6787	624	22	5	809	5	GRIP1	12	66773080	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	131492	66773080	67078815	1146	51417											
NUP107	57122	broad.mit.edu	37	chr12	69126428	69126428	+	Frame_Shift_Del	DEL	A	A	-													aataaataggaggatcgtttAaaaattgatgtaattgactg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:69126428delA	uc001suf.2	+	23	2125	c.2010delA	c.(2008-2010)TTAfs	p.L670fs	NUP107_uc001sug.2_Frame_Shift_Del_p.L429fs|NUP107_uc010stj.1_Frame_Shift_Del_p.L641fs	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	670					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AGGATCGTTTAAAAATTGATG	0.318													-	69126428	A	-	69126428	7	5	74	1	0	1	0	1	0	0	0	0	10753	359	13	0	2100	0	NUP107	12	69126428	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	2353348	69126428	64725467	1147	51418											
LYZ	4069	broad.mit.edu	37	chr12	69743886	69743886	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actaaaaataagttcttttcAgggatgtgtttggccaaatg	9	5	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:69743886A>G	uc001suw.2	+	2	192	c.137_splice	c.e2-2	p.W46_splice		NM_000239	NP_000230	P61626	LYSC_HUMAN	lysozyme precursor						cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding				0	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			AGTTCTTTTCAGGGATGTGTT	0.348													G	69743886	A	G	69743886	5	3	74	1	0	0	0	0	0	0	1	0	9130	202	7	3	141	3	LYZ	12	69743886	Splice_Site	SNP	A	TCGA-BR-8361-01A-11D-2340-08	617458	69743886	64108009	1148	51419											
ZFC3H1	196441	broad.mit.edu	37	chr12	72027125	72027125	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgttctgtaagttttgtAatctttgcttcagcatttct	7	7	4	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:72027125A>G	uc001swo.2	-	13	2963	c.2604T>C	c.(2602-2604)ATT>ATC	p.I868I		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	868	Potential.				RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						TAAGTTTTGTAATCTTTGCTT	0.289													G	72027125	A	G	72027125	2	3	74	1	0	0	0	0	0	0	0	1	17630	358	13	3		3	ZFC3H1	12	72027125	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	2283239	72027125	61824770	1149	51420											
ZFC3H1	196441	broad.mit.edu	37	chr12	72038781	72038781	+	Frame_Shift_Del	DEL	T	T	-													tgctgttctttttgttgccaTtttttactggctgactgaag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:72038781delT	uc001swo.2	-	4	1514	c.1155delA	c.(1153-1155)AAAfs	p.K385fs		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	385	Potential.				RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						TTTGTTGCCATTTTTTACTGG	0.348													-	72038781	T	-	72038781	7	5	74	1	0	1	0	1	0	0	0	0	17630	1490	52	0	4942	0	ZFC3H1	12	72038781	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	11656	72038781	61813114	1150	51421											
SYT1	6857	broad.mit.edu	37	chr12	79693174	79693174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttaatttaggtaccatactCggaattgggtggcaaaaccc	9	8	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:79693174C>T	uc001sys.2	+	9	1324	c.653C>T	c.(652-654)TCG>TTG	p.S218L	SYT1_uc001syt.2_Missense_Mutation_p.S218L|SYT1_uc001syu.2_Missense_Mutation_p.S215L|SYT1_uc001syv.2_Missense_Mutation_p.S218L	NM_001135805	NP_001129277	P21579	SYT1_HUMAN	synaptotagmin I	218	Cytoplasmic (Potential).|Phospholipid binding (Probable).|C2 1.				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			skin(3)|pancreas(2)|ovary(1)	6						GTACCATACTCGGAATTGGGT	0.343													T	79693174	C	T	79693174	3	4	74	1	0	0	0	0	1	0	0	0	15462	893	31	1	671	1	SYT1	12	79693174	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	7654393	79693174	54158721	1151	51422											
C12orf26	84190	broad.mit.edu	37	chr12	82752388	82752388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaccccggacctgcccaCgctgcgtgccaagttgcagg	14	15	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:82752388C>T	uc001szq.2	+	1	65	c.44C>T	c.(43-45)ACG>ATG	p.T15M	CCDC59_uc001szp.3_5'Flank	NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	hypothetical protein LOC84190	15											0						GACCTGCCCACGCTGCGTGCC	0.622											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	82752388	C	T	82752388	3	4	74	1	0	0	0	0	1	0	0	0	1679	536	19	1	46	1	C12orf26	12	82752388	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3059214	82752388	51099507	1152	51423											
LRRIQ1	84125	broad.mit.edu	37	chr12	85449692	85449692	+	Frame_Shift_Del	DEL	A	A	-													aaagaatattgtgaaacaggAaagagagcaactaataagca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:85449691_85449691GA>G	uc001tac.3	+	7	1231	c.1120_1120GA>G	c.(1120-1122)gaafs	p.E374fs	LRRIQ1_uc021rbo.1_Frame_Shift_Del_p.E252fs|LRRIQ1_uc001taa.1_Frame_Shift_Del_p.E349fs	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	374	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGTGAAACAGGAAAGAGAGCA	0.313													-	85449692	A	-	85449692	7	5	74	1	0	1	0	1	0	0	0	0	9029	246	9	0	1147	0	LRRIQ1	12	85449692	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	2697304	85449692	48402203	1153	51424											
MGAT4C	25834	broad.mit.edu	37	chr12	86373479	86373479	+	Frame_Shift_Del	DEL	G	G	-													tgttggtgtacagacttgcaGgggggttatcaggaatgtca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:86373478_86373478AG>A	uc010sum.2	-	5	1257	c.1098_1098CT>T	c.(1096-1098)cctfs	p.P366fs	MGAT4C_uc001tal.4_Frame_Shift_Del_p.P342fs|MGAT4C_uc001taj.4_Frame_Shift_Del_p.P342fs|MGAT4C_uc001tak.4_Frame_Shift_Del_p.P342fs|MGAT4C_uc001tai.4_Frame_Shift_Del_p.P342fs|MGAT4C_uc001tah.4_Frame_Shift_Del_p.P342fs	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	342					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACAGACTTGCAGGGGGGTTAT	0.413													-	86373479	G	-	86373479	7	5	74	1	0	1	0	1	0	0	0	0	9547	1000	35	0	415	0	MGAT4C	12	86373479	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	923787	86373479	47478416	1154	51425											
CEP290	80184	broad.mit.edu	37	chr12	88453675	88453675	+	Frame_Shift_Del	DEL	T	T	-													atcagtcataaaagtcatacTtttttaagttctttacgaag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:88453675delT	uc001tar.2	-	48	6989	c.6645delA	c.(6643-6645)AAAfs	p.K2215fs	CEP290_uc001taq.2_Frame_Shift_Del_p.K1275fs	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	2215	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						AAAGTCATACTTTTTTAAGTT	0.333													-	88453675	T	-	88453675	7	5	74	1	0	1	0	1	0	0	0	0	3253	1623	56	0	822	0	CEP290	12	88453675	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	2080196	88453675	45398220	1155	51426											
TMTC3	160418	broad.mit.edu	37	chr12	88553984	88553984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggaatttgctgtgtgtAtgaagtgtttattgcccagg	13	4	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:88553984A>G	uc001tau.2	+	5	822	c.602A>G	c.(601-603)TAT>TGT	p.Y201C	TMTC3_uc009zsm.2_RNA	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat	201	Helical; (Potential).			Y -> C (in Ref. 3; BAC11325).		integral to membrane	binding			skin(1)	1						TGCTGTGTGTATGAAGTGTTT	0.294													G	88553984	A	G	88553984	3	3	74	1	0	0	0	0	1	0	0	0	16259	449	16	3	616	3	TMTC3	12	88553984	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	100309	88553984	45297911	1156	51427											
C12orf12	196477	broad.mit.edu	37	chr12	91347369	91347369	+	Frame_Shift_Del	DEL	A	A	-													gaattatctgctctgggtttAaaaaagtgcagcttataaag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:91347369delA	uc001tbj.2	-	1	1585	c.1151delT	c.(1150-1152)TTAfs	p.L384fs		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	384										central_nervous_system(1)|pancreas(1)	2						CTCTGGGTTTAAAAAAGTGCA	0.423													-	91347369	A	-	91347369	7	5	74	1	0	1	0	1	0	0	0	0	1676	372	13	0	73	0	C12orf12	12	91347369	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	2793385	91347369	42504526	1157	51428											
C12orf12	196477	broad.mit.edu	37	chr12	91348142	91348142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccagggttccaggacccGctccagcaggagcagcagca	13	15	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:91348142G>A	uc001tbj.2	-	1	812	c.378C>T	c.(376-378)AGC>AGT	p.S126S		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	126										central_nervous_system(1)|pancreas(1)	2						TCCAGGACCCGCTCCAGCAGG	0.677													A	91348142	G	A	91348142	2	1	74	1	0	0	0	0	0	0	0	1	1676	1078	38	1		1	C12orf12	12	91348142	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	773	91348142	42503753	1158	51429											
DCN	1634	broad.mit.edu	37	chr12	91572154	91572154	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaccactcgaagatggcatTgacagcggaaggggcacact	14	10	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:91572154T>C	uc001tbs.2	-	1	270	c.176A>G	c.(175-177)CAA>CGA	p.Q59R	DCN_uc001tbo.2_Missense_Mutation_p.Q59R|DCN_uc001tbp.2_Missense_Mutation_p.Q59R|DCN_uc001tbq.2_Missense_Mutation_p.Q59R|DCN_uc001tbr.2_Missense_Mutation_p.Q59R|DCN_uc001tbt.2_Missense_Mutation_p.Q59R|DCN_uc001tbu.2_Missense_Mutation_p.Q59R	NM_133503	NP_598010	P07585	PGS2_HUMAN	decorin isoform a preproprotein	59	Cys-rich.				organ morphogenesis	extracellular space				central_nervous_system(2)|ovary(1)|lung(1)	4						AAGATGGCATTGACAGCGGAA	0.507											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	91572154	T	C	91572154	3	2	74	1	0	0	0	0	1	0	0	0	4297	1812	63	3	931	3	DCN	12	91572154	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	224012	91572154	42279741	1159	51430											
USP44	84101	broad.mit.edu	37	chr12	95926869	95926869	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaccacatgacttggaaCaaagtatgcaattcatgaca	7	10	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:95926869C>T	uc001teg.2	-	2	1308	c.1164G>A	c.(1162-1164)TTG>TTA	p.L388L	USP44_uc001teh.2_Silent_p.L388L|USP44_uc009zte.2_Silent_p.L385L	NM_001042403	NP_001035862	Q9H0E7	UBP44_HUMAN	ubiquitin thiolesterase 44	388					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)|breast(1)|central_nervous_system(1)	3						TGACTTGGAACAAAGTATGCA	0.453													T	95926869	C	T	95926869	2	4	74	1	0	0	0	0	0	0	0	1	17072	477	17	4		4	USP44	12	95926869	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	4354715	95926869	37925026	1160	51431											
ELK3	2004	broad.mit.edu	37	chr12	96641029	96641030	+	Frame_Shift_Ins	INS	-	-	C													aggagccgcccgaagacagcINSccccccgtggaagaagtcag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:96641028_96641029G>GC	uc001teo.1	+	2	797_798	c.518_519G>GC	c.(517-519)agcfs	p.S173fs		NM_005230	NP_005221	P41970	ELK3_HUMAN	Homo sapiens ELK3, ETS-domain protein (SRF accessory protein 2) (ELK3), mRNA.	173					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.V176fs*14(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CCCGAAGACAGCCCCCCCGTGG	0.579													C	96641030	-	C	96641029	7	5	74	1	0	1	1	0	0	0	0	0	5060	738	26	0	525	0	ELK3	12	96641029	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	714160	96641029	37210866	1161	51432											
ANKS1B	56899	broad.mit.edu	37	chr12	99446957	99446958	+	Frame_Shift_Ins	INS	-	-	T													aataagttcaacctcccagaINStttttttcaacaggtccatc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:99446957_99446958insT	uc001tge.1	-	17	3172_3173	c.2755_2756insA	c.(2755-2757)ATCfs	p.I919fs	ANKS1B_uc001tgf.1_Frame_Shift_Ins_p.I495fs|ANKS1B_uc001tgk.2_Frame_Shift_Ins_p.I216fs|ANKS1B_uc001tgd.1_Frame_Shift_Ins_p.I145fs|ANKS1B_uc001tgi.2_Frame_Shift_Ins_p.I145fs|ANKS1B_uc009ztr.2_Frame_Shift_Ins_p.I145fs|ANKS1B_uc001tgj.2_Frame_Shift_Ins_p.I145fs|ANKS1B_uc001tgg.3_Frame_Shift_Ins_p.I88fs|ANKS1B_uc010svg.1_Frame_Shift_Ins_p.I114fs|ANKS1B_uc009zts.1_Frame_Shift_Ins_p.I145fs|ANKS1B_uc001tgm.1_Frame_Shift_Ins_p.I145fs	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	919	SAM 2.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AACCTCCCAGATTTTTTTCAAC	0.371													T	99446958	-	T	99446957	7	5	74	1	0	1	1	0	0	0	0	0	689	333	12	0	1221	0	ANKS1B	12	99446957	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	2805928	99446957	34404938	1162	51433	211	2									
ANKS1B	56899	broad.mit.edu	37	chr12	99446958	99446959	+	Frame_Shift_Ins	INS	-	-	T													ataagttcaacctcccagatINSttttttcaacaggtccatcg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:99446957_99446958A>AT	uc001tge.2	-	16	3172_3173	c.2755_2756T>AT	c.(2755-2757)atcfs	p.I919fs	ANKS1B_uc001tgf.2_Frame_Shift_Ins_p.I495fs|ANKS1B_uc001tgk.3_Frame_Shift_Ins_p.I216fs|ANKS1B_uc001tgd.2_Frame_Shift_Ins_p.I145fs|ANKS1B_uc009ztr.3_Frame_Shift_Ins_p.I145fs|ANKS1B_uc001tgj.3_Frame_Shift_Ins_p.I145fs|ANKS1B_uc001tgi.3_Frame_Shift_Ins_p.I145fs|ANKS1B_uc009zts.2_Frame_Shift_Ins_p.I145fs|ANKS1B_uc001tgg.4_Frame_Shift_Ins_p.I88fs|ANKS1B_uc010svg.2_Frame_Shift_Ins_p.I114fs	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	919	SAM 2.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AACCTCCCAGATTTTTTTCAAC	0.371													T	99446959	-	T	99446958	7	5	74	1	0	1	1	0	0	0	0	0	689	1493	52	0	1222	0	ANKS1B	12	99446958	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1	99446958	34404937	1163	51434	211	2									
NR1H4	9971	broad.mit.edu	37	chr12	100930806	100930806	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgtacaggttcttgtagaAttcacaaaaaagctaccagg	8	8	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:100930806A>C	uc001tht.1	+	6	970	c.942A>C	c.(940-942)GAA>GAC	p.E314D	NR1H4_uc001thp.1_Missense_Mutation_p.E300D|NR1H4_uc001thq.1_Missense_Mutation_p.E304D|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.E304D|NR1H4_uc010svk.1_Missense_Mutation_p.E253D|NR1H4_uc001ths.1_Missense_Mutation_p.E310D	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	314	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						TTCTTGTAGAATTCACAAAAA	0.189													C	100930806	A	C	100930806	3	2	74	1	0	0	0	0	1	0	0	0	10619	98	4	5	922	5	NR1H4	12	100930806	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1483848	100930806	32921089	1164	51435											
UTP20	27340	broad.mit.edu	37	chr12	101720873	101720873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcagaattttgtatgggcGaatgaagaataagactggga	12	3	1	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:101720873G>A	uc001tia.1	+	26	3212	c.3056G>A	c.(3055-3057)CGA>CAA	p.R1019Q		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	1019					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						TTGTATGGGCGAATGAAGAAT	0.438													A	101720873	G	A	101720873	3	1	74	1	0	0	0	0	1	0	0	0	17096	1058	37	1	3158	1	UTP20	12	101720873	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	790067	101720873	32131022	1165	51436											
TCP11L2	255394	broad.mit.edu	37	chr12	106729456	106729456	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatggataaaagaatctgTaaatgaagaattattttctc	7	3	2	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:106729456T>C	uc001tln.2	+	7	986	c.812T>C	c.(811-813)GTA>GCA	p.V271A		NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	271										ovary(3)	3						AAAGAATCTGTAAATGAAGAA	0.403													C	106729456	T	C	106729456	3	2	74	1	0	0	0	0	1	0	0	0	15712	1638	57	3	834	3	TCP11L2	12	106729456	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	5008583	106729456	27122439	1166	51437											
POLR3B	55703	broad.mit.edu	37	chr12	106850939	106850939	+	Frame_Shift_Del	DEL	A	A	-													ttgggcgttgccttgtatatAaaaatgctaaatgtacgttg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:106850938_106850938TA>T	uc001tlp.3	+	20	2538	c.2316_2316TA>T	c.(2314-2316)tatfs	p.Y772fs	POLR3B_uc001tlq.3_Frame_Shift_Del_p.Y714fs	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	772					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GCCTTGTATATAAAAATGCTA	0.413													-	106850939	A	-	106850939	7	5	74	1	0	1	0	1	0	0	0	0	12229	363	13	0	2399	0	POLR3B	12	106850939	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	121483	106850939	27000956	1167	51438											
POLR3B	55703	broad.mit.edu	37	chr12	106890644	106890644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtgtgtgaggacctcgttCgccatggttataactacttg	11	8	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:106890644C>T	uc001tlp.2	+	25	3154	c.2932C>T	c.(2932-2934)CGC>TGC	p.R978C	POLR3B_uc001tlq.2_Missense_Mutation_p.R920C	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	978				R -> C (in Ref. 2; BAA91527).	innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						GGACCTCGTTCGCCATGGTTA	0.488													T	106890644	C	T	106890644	3	4	74	1	0	0	0	0	1	0	0	0	12229	884	31	1	3030	1	POLR3B	12	106890644	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	39705	106890644	26961251	1168	51439											
CRY1	1407	broad.mit.edu	37	chr12	107391121	107391121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagaatatcccatgaaGcctccattcccattaggatt	6	12	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:107391121G>A	uc001tmi.3	-	10	2395	c.1536C>T	c.(1534-1536)GGC>GGT	p.G512G		NM_004075	NP_004066	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	512					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			ovary(3)	3						ATCCCATGAAGCCTCCATTCC	0.343													A	107391121	G	A	107391121	2	1	74	1	0	0	0	0	0	0	0	1	3903	958	34	2		2	CRY1	12	107391121	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	500477	107391121	26460774	1169	51440											
CMKLR1	1240	broad.mit.edu	37	chr12	108686070	108686070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaagccacagaggaagcGggtgacagtcaccaccatgt	13	11	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:108686070G>A	uc009zuw.2	-	3	861	c.670C>T	c.(670-672)CGC>TGC	p.R224C	CMKLR1_uc001tmw.2_Missense_Mutation_p.R224C|CMKLR1_uc001tmv.2_Missense_Mutation_p.R222C|CMKLR1_uc009zuv.2_Missense_Mutation_p.R224C	NM_001142345	NP_001135817	Q99788	CML1_HUMAN	chemokine-like receptor 1 isoform a	224	Extracellular (Potential).				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			lung(3)|ovary(1)|pancreas(1)	5						CAGAGGAAGCGGGTGACAGTC	0.582													A	108686070	G	A	108686070	3	1	74	1	0	0	0	0	1	0	0	0	3579	1116	39	1	455	1	CMKLR1	12	108686070	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1294949	108686070	25165825	1170	51441											
FICD	11153	broad.mit.edu	37	chr12	108912785	108912785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgggctacgtggaccccGtggaagccggcaggtttcgg	17	11	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:108912785G>A	uc001tmx.1	+	3	1056	c.910G>A	c.(910-912)GTG>ATG	p.V304M		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Huntingtin interacting protein E	304	Fido.				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity				0						CGTGGACCCCGTGGAAGCCGG	0.592													A	108912785	G	A	108912785	3	1	74	1	0	0	0	0	1	0	0	0	5887	1145	40	1	916	1	FICD	12	108912785	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	226715	108912785	24939110	1171	51442											
MVK	4598	broad.mit.edu	37	chr12	110019240	110019240	+	Frame_Shift_Del	DEL	C	C	-													tcgtagtgtggtcggagctgCcccccggggcgggcttgggc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:110019240delC	uc001toy.3	+	5	596	c.412delC	c.(412-414)CCCfs	p.P138fs	MVK_uc009zvk.2_Frame_Shift_Del_p.P138fs|MVK_uc010sxr.1_Intron|MVK_uc001toz.3_Intron|MVK_uc001tpc.3_RNA	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	mevalonate kinase	138	ATP (By similarity).				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity				0						GTCGGAGCTGCCCCCCGGGGC	0.667													-	110019240	C	-	110019240	7	5	74	1	0	1	0	1	0	0	0	0	9995	739	26	0	426	0	MVK	12	110019240	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	1106455	110019240	23832655	1172	51443											
C12orf34	84915	broad.mit.edu	37	chr12	110206636	110206636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgccgccccagccactgcGtgcctacagtgggagcacgg	13	17	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:110206636G>A	uc001tpd.1	+	3	1461	c.902G>A	c.(901-903)CGT>CAT	p.R301H	MGC14436_uc010sxs.1_Intron|MGC14436_uc001tpe.2_Intron|C12orf34_uc001tpf.1_Missense_Mutation_p.R301H	NM_032829	NP_116218	Q5U5X8	CL034_HUMAN	hypothetical protein LOC84915	301										ovary(1)	1						CAGCCACTGCGTGCCTACAGT	0.711													A	110206636	G	A	110206636	3	1	74	1	0	0	0	0	1	0	0	0	1681	1145	40	1	908	1	C12orf34	12	110206636	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	187396	110206636	23645259	1173	51444											
HVCN1	84329	broad.mit.edu	37	chr12	111088053	111088053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaaccttaagagttgccGttctgaacgtgtcttaactg	8	8	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:111088053G>A	uc001trs.1	-	7	841	c.676C>T	c.(676-678)CGG>TGG	p.R226W	HVCN1_uc001trq.1_Missense_Mutation_p.R226W|HVCN1_uc001trt.1_Missense_Mutation_p.R226W|HVCN1_uc010syd.1_Missense_Mutation_p.R206W	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	226	Cytoplasmic (Potential).|Potential.				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			skin(1)	1						AAGAGTTGCCGTTCTGAACGT	0.398													A	111088053	G	A	111088053	3	1	74	1	0	0	0	0	1	0	0	0	7462	1144	40	1	153	1	HVCN1	12	111088053	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	881417	111088053	22763842	1174	51445											
HVCN1	84329	broad.mit.edu	37	chr12	111099069	111099069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaacgtcaggggctgcaGctctgccttcctcgcctgag	14	14	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:111099069G>A	uc001trs.1	-	4	371	c.206C>T	c.(205-207)GCT>GTT	p.A69V	HVCN1_uc001trq.1_Missense_Mutation_p.A69V|HVCN1_uc001trt.1_Missense_Mutation_p.A69V|HVCN1_uc010syd.1_Missense_Mutation_p.A49V	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	69	Cytoplasmic (Potential).				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			skin(1)	1						AGGGGCTGCAGCTCTGCCTTC	0.517													A	111099069	G	A	111099069	3	1	74	1	0	0	0	0	1	0	0	0	7462	971	34	2	635	2	HVCN1	12	111099069	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	11016	111099069	22752826	1175	51446											
CCDC63	160762	broad.mit.edu	37	chr12	111317756	111317756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccactaatgccaagctccGgaaggagattgaagacctac	10	11	0	3	rs142788118		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:111317756G>A	uc001trv.1	+	6	731	c.536G>A	c.(535-537)CGG>CAG	p.R179Q	CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_Missense_Mutation_p.R139Q|CCDC63_uc001trw.1_Missense_Mutation_p.R94Q	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	179	Potential.									skin(6)|ovary(1)|pancreas(1)	8						GCCAAGCTCCGGAAGGAGATT	0.448													A	111317756	G	A	111317756	3	1	74	1	0	0	0	0	1	0	0	0	2834	1116	39	1	554	1	CCDC63	12	111317756	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	218687	111317756	22534139	1176	51447											
CUX2	23316	broad.mit.edu	37	chr12	111785647	111785648	+	Frame_Shift_Ins	INS	-	-	C													gctggacaaaggccaaggtcINScccccaaagaggagcatccc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:111785646_111785647T>TC	uc001tsa.2	+	21	4132_4133	c.3978_3979T>TC	c.(3976-3981)ggtcccfs	p.G1326fs		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1326						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P1327P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AAGGCCAAGGTCCCCCCAAAGA	0.624													C	111785648	-	C	111785647	7	5	74	1	0	1	1	0	0	0	0	0	4065	855	30	0	4065	0	CUX2	12	111785647	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	467891	111785647	22066248	1177	51448											
OAS2	4939	broad.mit.edu	37	chr12	113416586	113416586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctggtgcagggagtggCcatagtgagtccagggctga	16	11	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:113416586C>T	uc001tuj.2	+	1	313	c.173C>T	c.(172-174)GCC>GTC	p.A58V	OAS2_uc001tuh.2_Missense_Mutation_p.A58V|OAS2_uc001tui.1_Missense_Mutation_p.A58V	NM_016817	NP_058197	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2 isoform 1	58	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(1)	1						CAGGGAGTGGCCATAGTGAGT	0.587													T	113416586	C	T	113416586	3	4	74	1	0	0	0	0	1	0	0	0	10800	739	26	2	175	2	OAS2	12	113416586	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1630939	113416586	20435309	1178	51449											
DDX54	79039	broad.mit.edu	37	chr12	113617042	113617042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcactgtgggtcttgagcCgctcgaacattgggaggagg	18	8	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:113617042C>T	uc001tup.2	-	4	498	c.470G>A	c.(469-471)CGG>CAG	p.R157Q	DDX54_uc001tuq.3_Missense_Mutation_p.R157Q	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	157	Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						GGTCTTGAGCCGCTCGAACAT	0.647													T	113617042	C	T	113617042	3	4	74	1	0	0	0	0	1	0	0	0	4372	652	23	1	2246	1	DDX54	12	113617042	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	200456	113617042	20234853	1179	51450											
FBXO21	23014	broad.mit.edu	37	chr12	117604703	117604703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaccaagaaaaccttacCgcttccccaggcttaacagg	7	13	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:117604703C>T	uc001twk.2	-	8	1232	c.1193G>A	c.(1192-1194)CGG>CAG	p.R398Q	FBXO21_uc001twj.2_Missense_Mutation_p.R398Q|FBXO21_uc009zwq.2_Intron|FBXO21_uc001twl.1_Missense_Mutation_p.R11Q	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	398					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		AAAACCTTACCGCTTCCCCAG	0.458													T	117604703	C	T	117604703	3	4	74	1	0	0	0	0	1	0	0	0	5733	666	23	1	713	1	FBXO21	12	117604703	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3987661	117604703	16247192	1180	51451											
NOS1	4842	broad.mit.edu	37	chr12	117669898	117669898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctggaagatggtgcaggGcgggaggcggagctcgtctg	21	8	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:117669898G>A	uc001twm.1	-	22	3960	c.3274C>T	c.(3274-3276)CCC>TCC	p.P1092S		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1092	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATGGTGCAGGGCGGGAGGCGG	0.597													A	117669898	G	A	117669898	3	1	74	1	0	0	0	0	1	0	0	0	10541	1203	42	2	1062	2	NOS1	12	117669898	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	65195	117669898	16181997	1181	51452											
TAOK3	51347	broad.mit.edu	37	chr12	118598098	118598098	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactggtgattcttgagtgcTttatactgtttggtctgtac	10	6	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:118598098T>C	uc001twx.2	-	19	2500	c.2205A>G	c.(2203-2205)AAA>AAG	p.K735K	TAOK3_uc001twv.2_Silent_p.K275K|TAOK3_uc001tww.2_Silent_p.K565K|TAOK3_uc001twy.3_Silent_p.K735K	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	735					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTTGAGTGCTTTATACTGTT	0.373													C	118598098	T	C	118598098	2	2	74	1	0	0	0	0	0	0	0	1	15546	1606	56	3		3	TAOK3	12	118598098	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	928200	118598098	15253797	1182	51453											
GCN1L1	10985	broad.mit.edu	37	chr12	120582472	120582472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggggatgatgggccccaCataaggagtaaacttgtctc	12	9	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:120582472C>T	uc001txo.2	-	41	5336	c.5323G>A	c.(5323-5325)GTG>ATG	p.V1775M		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1775	HEAT 13.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGGGCCCCACATAAGGAGTA	0.512													T	120582472	C	T	120582472	3	4	74	1	0	0	0	0	1	0	0	0	6299	478	17	4	2764	4	GCN1L1	12	120582472	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1984374	120582472	13269423	1183	51454											
PXN	5829	broad.mit.edu	37	chr12	120660747	120660747	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcagaaaggttgctgcccaGggacgtgctcattacggtgg	14	9	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:120660747G>T	uc001txt.2	-	4	543	c.412C>A	c.(412-414)CTG>ATG	p.L138M	PXN_uc001txv.2_Missense_Mutation_p.L5M|PXN_uc001txx.2_Missense_Mutation_p.L5M|PXN_uc001txy.2_Missense_Mutation_p.L138M|PXN_uc001txz.2_RNA|uc001tya.2_5'Flank	NM_001080855	NP_001074324	P49023	PAXI_HUMAN	paxillin isoform 1	138					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			ovary(1)|breast(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGCTGCCCAGGGACGTGCTC	0.562													T	120660747	G	T	120660747	3	4	74	1	0	0	0	0	1	0	0	0	12852	991	35	5	1399	5	PXN	12	120660747	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	78275	120660747	13191148	1184	51455											
KDM2B	84678	broad.mit.edu	37	chr12	121880228	121880228	+	Frame_Shift_Del	DEL	G	G	-													cagctggtgccgcagctcccGgggggtgccgttgagcccct							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:121880228delG	uc001uat.2	-	19	3120	c.3016delC	c.(3016-3018)CGGfs	p.R1006fs	KDM2B_uc001uaq.2_Frame_Shift_Del_p.R446fs|KDM2B_uc010szy.1_Frame_Shift_Del_p.R446fs|KDM2B_uc001uar.2_Frame_Shift_Del_p.R597fs|KDM2B_uc001uas.2_Frame_Shift_Del_p.R937fs|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Frame_Shift_Del_p.R254fs|KDM2B_uc010szx.1_Frame_Shift_Del_p.R254fs|KDM2B_uc001uap.2_RNA	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	1006					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						CGCAGCTCCCGGGGGGTGCCG	0.721													-	121880228	G	-	121880228	7	5	74	1	0	1	0	1	0	0	0	0	8125	1115	39	0	1066	0	KDM2B	12	121880228	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	1219481	121880228	11971667	1185	51456											
HIP1R	9026	broad.mit.edu	37	chr12	123339488	123339488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcaaggccacagggaccGgttccacgagcagtttcaca	11	14	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:123339488G>A	uc001udj.1	+	9	814	c.755G>A	c.(754-756)CGG>CAG	p.R252Q	HIP1R_uc001udg.1_Missense_Mutation_p.R240Q|HIP1R_uc001udi.1_Missense_Mutation_p.R252Q|HIP1R_uc001udk.1_5'Flank	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	252					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CACAGGGACCGGTTCCACGAG	0.637													A	123339488	G	A	123339488	3	1	74	1	0	0	0	0	1	0	0	0	7115	1116	39	1	789	1	HIP1R	12	123339488	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1459260	123339488	10512407	1186	51457											
SBNO1	55206	broad.mit.edu	37	chr12	123794283	123794284	+	Frame_Shift_Ins	INS	-	-	T													tcccatatcatatcttccatINStttttttggcattttgaaca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:123794282_123794283A>AT	uc010tap.2	-	24	3416_3417	c.3416_3417T>AT	c.(3415-3417)aatfs	p.N1139fs	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Frame_Shift_Ins_p.N1138fs|SBNO1_uc010taq.2_Frame_Shift_Ins_p.N90fs|SBNO1_uc001ues.1_Frame_Shift_Ins_p.N90fs	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1139							ATP binding|DNA binding|hydrolase activity	p.N1138fs*9(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CATATCTTCCATTTTTTTTGGC	0.386													T	123794284	-	T	123794283	7	5	74	1	0	1	1	0	0	0	0	0	13862	1493	52	0	793	0	SBNO1	12	123794283	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	454795	123794283	10057612	1187	51458											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124233282	124233284	+	In_Frame_Del	DEL	AAC	AAC	-													gcattctgattgaatttattAacatgtttttattcccagcc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:124233281_124233283TAAC>T	uc001ufr.3	+	14	2132_2134	c.1884_1886TAAC>T	c.(1882-1887)attaac>atTc	p.N629del		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA.	629					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TTGAATTTATTAACATGTTTTTA	0.399													-	124233284	AAC	-	124233282	7	5	74	1	0	1	0	1	0	0	0	0	1169	362	13	0	1943	0	ATP6V0A2	12	124233282	In_Frame_Del	DEL	AAC	TCGA-BR-8361-01A-11D-2340-08	438999	124233282	9618613	1188	51459											
DHX37	57647	broad.mit.edu	37	chr12	125438496	125438496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccgcagcccgttggcttcGcaaaactggggtgtgcagct	13	12	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:125438496G>A	uc001ugy.2	-	20	2724	c.2625C>T	c.(2623-2625)TGC>TGT	p.C875C	DHX37_uc001ugz.1_5'Flank	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	875							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CGTTGGCTTCGCAAAACTGGG	0.672													A	125438496	G	A	125438496	2	1	74	1	0	0	0	0	0	0	0	1	4510	1079	38	1		1	DHX37	12	125438496	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1205214	125438496	8413399	1189	51460											
EP400	57634	broad.mit.edu	37	chr12	132505628	132505628	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accttatcgattgcagcagcAgcagccccgtttcagacctc	8	15	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:132505628A>G	uc001ujn.2	+	22	4487	c.4452A>G	c.(4450-4452)GCA>GCG	p.A1484A	EP400_uc001ujl.2_Silent_p.A1483A|EP400_uc001ujm.2_Intron	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1520	Poly-Ala.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTGCAGCAGCAGCAGCCCCGT	0.473													G	132505628	A	G	132505628	2	3	74	1	0	0	0	0	0	0	0	1	5149	175	7	3		3	EP400	12	132505628	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	7067132	132505628	1346267	1190	51461											
EP400	57634	broad.mit.edu	37	chr12	132546816	132546816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggccgtggtcactaccaaCctgaccccagtgcagacccc	9	18	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:132546816C>T	uc001ujn.2	+	45	8081	c.8046C>T	c.(8044-8046)AAC>AAT	p.N2682N	EP400_uc001ujl.2_Silent_p.N2681N|EP400_uc001ujm.2_Silent_p.N2601N|EP400_uc001ujp.2_5'Flank	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2718	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCACTACCAACCTGACCCCAG	0.642													T	132546816	C	T	132546816	2	4	74	1	0	0	0	0	0	0	0	1	5149	506	18	4		4	EP400	12	132546816	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	41188	132546816	1305079	1191	51462											
POLE	5426	broad.mit.edu	37	chr12	133245024	133245024	+	Frame_Shift_Del	DEL	G	G	-													gctggcccctctgggaacaaGggggggaacttctctgactc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:133245023_133245023AG>A	uc001uks.1	-	18	2136	c.2092_2092CT>T	c.(2092-2094)ttgfs	p.L698fs	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Frame_Shift_Del_p.L671fs	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	698					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCTGGGAACAAGGGGGGGAAC	0.597								DNA polymerases (catalytic subunits)					-	133245024	G	-	133245024	7	5	74	1	0	1	0	1	0	0	0	0	12196	987	35	0	4893	0	POLE	12	133245024	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	698208	133245024	606871	1192	51463											
POLE	5426	broad.mit.edu	37	chr12	133254023	133254024	+	Frame_Shift_Ins	INS	-	-	A													cggtatctgacattgtaccaINSatgagcctgcaaaacacaca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:133254022_133254023C>CA	uc001uks.1	-	7	771_772	c.727_728G>TG	c.(727-729)tggfs	p.W243fs	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Frame_Shift_Ins_p.W216fs	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	243					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GACATTGTACCAATGAGCCTGC	0.441								DNA polymerases (catalytic subunits)					A	133254024	-	A	133254023	7	5	74	1	0	1	1	0	0	0	0	0	12196	130	5	0	6301	0	POLE	12	133254023	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	8999	133254023	597872	1193	51464											
ANKLE2	23141	broad.mit.edu	37	chr12	133306760	133306760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaagcaccgactgtgggcGggctgttatttcgagctgca	13	10	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr12:133306760G>A	uc001ukx.2	-	11	2055	c.1988C>T	c.(1987-1989)CCG>CTG	p.P663L	ANKLE2_uc009zyw.1_Missense_Mutation_p.P18L	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	663						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GACTGTGGGCGGGCTGTTATT	0.537													A	133306760	G	A	133306760	3	1	74	1	0	0	0	0	1	0	0	0	633	1116	39	1	840	1	ANKLE2	12	133306760	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	52737	133306760	545135	1194	51465											
ZMYM5	9205	broad.mit.edu	37	chr13	20426143	20426144	+	In_Frame_Ins	INS	-	-	CAT													atagattcaataaacacaacINSatcatcatcatcatcatcat					rs112044779		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:20426142_20426143A>ACAT	uc010tcn.1	-	2	443_444	c.178_179T>ATGT	c.(178-180)gtt>ATGTt	p.V60M	ZMYM5_uc001umm.1_De_novo_Start_InFrame|ZMYM5_uc001umn.3_In_Frame_Ins_p.V60M|ZMYM5_uc001umo.3_In_Frame_Ins_p.V60M	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	Homo sapiens zinc finger, MYM-type 5 (ZMYM5), transcript variant 3, mRNA.	60						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		AATAAACACAAcatcatcatca	0.376													CAT	20426144	-	CAT	20426143	7	5	74	1	0	1	1	0	0	0	0	0	17700	478	17	0	1966	0	ZMYM5	13	20426143	In_Frame_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08		20426143	94743735	1195	51466											
SACS	26278	broad.mit.edu	37	chr13	23911987	23911987	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggtatttcaaaaatatctTgaaggctgctgaaccaacat	8	7	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:23911987T>C	uc001uon.2	-	10	6617	c.6028A>G	c.(6028-6030)AAG>GAG	p.K2010E	SACS_uc001uoo.2_Missense_Mutation_p.K1863E|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2010					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAAAATATCTTGAAGGCTGCT	0.383													C	23911987	T	C	23911987	3	2	74	1	0	0	0	0	1	0	0	0	13804	1821	63	3	7715	3	SACS	13	23911987	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	3485844	23911987	91257891	1196	51467											
MIPEP	4285	broad.mit.edu	37	chr13	24460522	24460522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctcatcgaagatcagcaCggtctggggcccaggtgggg	17	10	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:24460522C>T	uc001uox.3	-	2	413	c.313G>A	c.(313-315)GTG>ATG	p.V105M	PCOTH_uc001uoy.2_5'Flank	NM_005932	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase precursor	105					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AAGATCAGCACGGTCTGGGGC	0.493													T	24460522	C	T	24460522	3	4	74	1	0	0	0	0	1	0	0	0	9592	536	19	1	1900	1	MIPEP	13	24460522	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	548535	24460522	90709356	1197	51468											
CENPJ	55835	broad.mit.edu	37	chr13	25480581	25480581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcagccagccggctggccGgccctgttgaaagaggaagt	15	11	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:25480581G>A	uc001upt.3	-	7	1848	c.1595C>T	c.(1594-1596)CCG>CTG	p.P532L	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_5'Flank	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	532					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CCGGCTGGCCGGCCCTGTTGA	0.463													A	25480581	G	A	25480581	3	1	74	1	0	0	0	0	1	0	0	0	3234	1116	39	1	2465	1	CENPJ	13	25480581	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1020059	25480581	89689297	1198	51469											
ATP8A2	51761	broad.mit.edu	37	chr13	26343303	26343303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccagacagcccacgtggGtgtgggaatcagtgggaatg	16	8	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:26343303G>A	uc001uqk.2	+	26	2646	c.2504G>A	c.(2503-2505)GGT>GAT	p.G835D	ATP8A2_uc010tdi.1_Missense_Mutation_p.G795D|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.G385D	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	795	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCCCACGTGGGTGTGGGAATC	0.592													A	26343303	G	A	26343303	3	1	74	1	0	0	0	0	1	0	0	0	1193	1261	44	4	2606	4	ATP8A2	13	26343303	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	862722	26343303	88826575	1199	51470											
LNX2	222484	broad.mit.edu	37	chr13	28122585	28122585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggttgacagcccatttaCggccacaatcatgtcaccac	7	15	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:28122585C>T	uc001url.3	-	10	2269	c.1960G>A	c.(1960-1962)GTA>ATA	p.V654I		NM_153371	NP_699202	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	654	PDZ 4.						zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		AGCCCATTTACGGCCACAATC	0.438													T	28122585	C	T	28122585	3	4	74	1	0	0	0	0	1	0	0	0	8866	536	19	1	116	1	LNX2	13	28122585	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1779282	28122585	87047293	1200	51471											
GSX1	219409	broad.mit.edu	37	chr13	28367782	28367782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgctagagctggagcgCgagttcgcttctaatatgta	12	9	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:28367782C>T	uc001urr.1	+	2	540	c.492C>T	c.(490-492)CGC>CGT	p.R164R		NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	GS homeobox 1	164	Homeobox.				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		AGCTGGAGCGCGAGTTCGCTT	0.572													T	28367782	C	T	28367782	2	4	74	1	0	0	0	0	0	0	0	1	6849	755	27	1		1	GSX1	13	28367782	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	245197	28367782	86802096	1201	51472											
FLT3	2322	broad.mit.edu	37	chr13	28608271	28608271	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagatcatattcatattcTctgaaatcaacgtagaagta	6	6	4	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:28608271T>C	uc001urw.2	-	14	1867	c.1785A>G	c.(1783-1785)AGA>AGG	p.R595R	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Silent_p.R595R	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	595	Cytoplasmic (Potential).|Important for normal regulation of the kinase activity and for maintaining the kinase in an inactive state in the absence of bound ligand.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.F594_R595ins12(2)|p.R595_E596insDFYVDFR(1)|p.F594_R595ins15(1)|p.F594_R595ins14(1)|p.E588_R595>PPGQY(1)|p.F590_E596>LG(1)|p.R595_E596ins12(1)|p.R595_E596ins13(1)|p.R595_E596insNEYFYVDFR(1)|p.R595_E596ins17(1)|p.R595_E596insDNEYFYVDFR(1)|p.R595_E596insEDREHHVDFR(1)		haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	ATTCATATTCTCTGAAATCAA	0.378			Mis|O		AML|ALL								C	28608271	T	C	28608271	2	2	74	1	0	0	0	0	0	0	0	1	5942	1548	54	3		3	FLT3	13	28608271	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	240489	28608271	86561607	1202	51473											
FLT3	2322	broad.mit.edu	37	chr13	28626756	28626756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagatatgcagaccagggcGtcctggttttccatttttct	9	10	2	2	rs56033040		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:28626756G>A	uc001urw.2	-	5	622	c.540C>T	c.(538-540)GAC>GAT	p.D180D	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Silent_p.D180D	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	180	Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGACCAGGGCGTCCTGGTTTT	0.403			Mis|O		AML|ALL								A	28626756	G	A	28626756	2	1	74	1	0	0	0	0	0	0	0	1	5942	1136	40	1		1	FLT3	13	28626756	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	18485	28626756	86543122	1203	51474											
FLT1	2321	broad.mit.edu	37	chr13	28959039	28959039	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taccaggctcttgttgtattTtgtggttgtttttaaaccaa	8	6	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:28959039T>A	uc001usb.3	-	14	2384	c.2099A>T	c.(2098-2100)AAA>ATA	p.K700I	FLT1_uc010aar.1_Missense_Mutation_p.K700I	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	700	Ig-like C2-type 7.|Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTGTTGTATTTTGTGGTTGTT	0.443													A	28959039	T	A	28959039	3	1	74	1	0	0	0	0	1	0	0	0	5941	1841	64	5	2075	5	FLT1	13	28959039	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	332283	28959039	86210839	1204	51475											
MTUS2	23281	broad.mit.edu	37	chr13	29599849	29599849	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgggatgccacaaggaagaGaatctgtcagccttggaggg	15	8	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:29599849G>T	uc001usl.3	+	1	1102	c.1044G>T	c.(1042-1044)GAG>GAT	p.E348D		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	338						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						ACAAGGAAGAGAATCTGTCAG	0.562													T	29599849	G	T	29599849	3	4	74	1	0	0	0	0	1	0	0	0	9966	933	33	5	1046	5	MTUS2	13	29599849	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	640810	29599849	85570029	1205	51476											
C13orf33	84935	broad.mit.edu	37	chr13	31495959	31495959	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggagcagtttctctgacCgaaagttcagtgtaacttcc	10	9	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:31495959C>T	uc001uth.3	+	4	1104	c.763C>T	c.(763-765)CGA>TGA	p.R255*	uc001utg.1_Intron	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	hypothetical protein LOC84935	255											0		Lung SC(185;0.0281)		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)		TTTCTCTGACCGAAAGTTCAG	0.363													T	31495959	C	T	31495959	4	4	74	1	0	0	0	0	0	1	0	0	1727	644	23	1	777	1	C13orf33	13	31495959	Nonsense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1896110	31495959	83673919	1206	51477											
HSPH1	10808	broad.mit.edu	37	chr13	31711624	31711624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgattcaatttttggtttcGgttgtgttacaacgggttca	11	5	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:31711624G>A	uc001utj.2	-	18	2806	c.2408C>T	c.(2407-2409)CCG>CTG	p.P803L	HSPH1_uc001utk.2_Missense_Mutation_p.P759L|HSPH1_uc010aaw.2_Missense_Mutation_p.P762L|HSPH1_uc001utl.2_Missense_Mutation_p.P805L|HSPH1_uc010tds.1_Missense_Mutation_p.P727L	NM_006644	NP_006635	Q92598	HS105_HUMAN	heat shock 105kD	803					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding				0		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTTTGGTTTCGGTTGTGTTAC	0.343													A	31711624	G	A	31711624	3	1	74	1	0	0	0	0	1	0	0	0	7431	1116	39	1	172	1	HSPH1	13	31711624	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	215665	31711624	83458254	1207	51478											
HSPH1	10808	broad.mit.edu	37	chr13	31732954	31732954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacatacctgatttttggCtgcaactccgattgttctat	7	9	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:31732954C>T	uc001utj.2	-	2	552	c.154G>A	c.(154-156)GCC>ACC	p.A52T	HSPH1_uc001utk.2_Missense_Mutation_p.A52T|HSPH1_uc010aaw.2_Missense_Mutation_p.A52T|HSPH1_uc001utl.2_Missense_Mutation_p.A54T|HSPH1_uc010tds.1_Missense_Mutation_p.A54T|HSPH1_uc010tdt.1_RNA|HSPH1_uc010aax.1_Missense_Mutation_p.A54T|HSPH1_uc010aay.1_Missense_Mutation_p.A54T	NM_006644	NP_006635	Q92598	HS105_HUMAN	heat shock 105kD	52					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding				0		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TGATTTTTGGCTGCAACTCCG	0.303													T	31732954	C	T	31732954	3	4	74	1	0	0	0	0	1	0	0	0	7431	797	28	2	2490	2	HSPH1	13	31732954	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	21330	31732954	83436924	1208	51479											
BRCA2	675	broad.mit.edu	37	chr13	32930668	32930668	+	Frame_Shift_Del	DEL	A	A	-													ccaggcagtctgtatcttgcAaaaacatccactctgcctcg					rs80359657		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:32930667_32930667CA>C	uc001uub.1	+	14	7765	c.7538_7538CA>C	c.(7537-7539)gcafs	p.A2513fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2513	Interaction with FANCD2.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTGTATCTTGCAAAAACATCC	0.433			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			-	32930668	A	-	32930668	7	5	74	1	0	1	0	1	0	0	0	0	1499	117	5	0	7593	0	BRCA2	13	32930668	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	1197714	32930668	82239210	1209	51480											
NBEA	26960	broad.mit.edu	37	chr13	35736024	35736025	+	Frame_Shift_Ins	INS	-	-	T													caatgtttcgtattcctgagINStttaaatggtctccaatgca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:35736024_35736025insT	uc001uvb.2	+	24	4205_4206	c.3999_4000insT	c.(3997-4002)GAGTTTfs	p.E1333fs	NBEA_uc010abi.2_Frame_Shift_Ins_p.E24fs	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1333_1334	WD 1.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTATTCCTGAGTTTAAATGGTC	0.411													T	35736025	-	T	35736024	7	5	74	1	0	1	1	0	0	0	0	0	10187	1020	36	0	4089	0	NBEA	13	35736024	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	2805356	35736024	79433854	1210	51481											
MAB21L1	4081	broad.mit.edu	37	chr13	36049497	36049497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccggcagttcaaggtgaCgatcccttaaggttttgagg	14	9	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:36049497C>T	uc001uvc.2	-	1	1336	c.779G>A	c.(778-780)CGT>CAT	p.R260H	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	260					anatomical structure morphogenesis	nucleus				ovary(2)	2		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TTCAAGGTGACGATCCCTTAA	0.557													T	36049497	C	T	36049497	3	4	74	1	0	0	0	0	1	0	0	0	9141	536	19	1	304	1	MAB21L1	13	36049497	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	313473	36049497	79120381	1211	51482											
SPG20	23111	broad.mit.edu	37	chr13	36909272	36909272	+	Frame_Shift_Del	DEL	A	A	-													acctcccctgcaggatttacAaaaaaaatctgtactccatt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:36909271_36909271CA>C	uc001uvn.3	-	2	967	c.697_697TG>G	c.(697-699)gtafs	p.V233fs	SPG20_uc010ten.2_Frame_Shift_Del_p.V233fs|SPG20_uc001uvm.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvo.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvq.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvp.2_Frame_Shift_Del_p.V233fs	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	233					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		GCAGGATTTACAAAAAAAATC	0.438													-	36909272	A	-	36909272	7	5	74	1	0	1	0	1	0	0	0	0	15041	127	5	0	1336	0	SPG20	13	36909272	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	859775	36909272	78260606	1212	51483											
FREM2	341640	broad.mit.edu	37	chr13	39262698	39262698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagactctgaccaggagcGcctctttgaactggaattgg	12	9	2	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:39262698G>A	uc001uwv.2	+	1	1526	c.1217G>A	c.(1216-1218)CGC>CAC	p.R406H		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	406	CSPG 1.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GACCAGGAGCGCCTCTTTGAA	0.547													A	39262698	G	A	39262698	3	1	74	1	0	0	0	0	1	0	0	0	6045	1087	38	1	1219	1	FREM2	13	39262698	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2353426	39262698	75907180	1213	51484											
FOXO1	2308	broad.mit.edu	37	chr13	41134254	41134254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactccttcaagagtccaggCgcacagttatactgactcat	7	12	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:41134254C>T	uc001uxl.3	-	2	1759	c.1374G>A	c.(1372-1374)GCG>GCA	p.A458A	FOXO1_uc010acc.1_Silent_p.A273A	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	forkhead box O1	458					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX3/FOXO1(749)|PAX7/FOXO1(197)	soft_tissue(946)|lung(1)|central_nervous_system(1)	948		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		AGAGTCCAGGCGCACAGTTAT	0.502													T	41134254	C	T	41134254	2	4	74	1	0	0	0	0	0	0	0	1	6023	755	27	1		1	FOXO1	13	41134254	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1871556	41134254	74035624	1214	51485											
AKAP11	11215	broad.mit.edu	37	chr13	42871202	42871202	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggatttagctgcagtttctTtggaacttccagatattctg	9	7	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:42871202T>C	uc001uys.1	+	6	410	c.235T>C	c.(235-237)TTG>CTG	p.L79L		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	79					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGCAGTTTCTTTGGAACTTCC	0.299													C	42871202	T	C	42871202	2	2	74	1	0	0	0	0	0	0	0	1	447	1838	64	3		3	AKAP11	13	42871202	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	1736948	42871202	72298676	1215	51486											
ZC3H13	23091	broad.mit.edu	37	chr13	46544501	46544501	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacagagtctgcttacttttAtcatctccactgttgtaggc	7	10	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:46544501A>G	uc010tfw.1	-	12	2574	c.2568T>C	c.(2566-2568)GAT>GAC	p.D856D	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Silent_p.D856D|ZC3H13_uc001vat.1_Silent_p.D856D	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	856							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GCTTACTTTTATCATCTCCAC	0.433													G	46544501	A	G	46544501	2	3	74	1	0	0	0	0	0	0	0	1	17562	446	16	3		3	ZC3H13	13	46544501	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	3673299	46544501	68625377	1216	51487											
SETDB2	83852	broad.mit.edu	37	chr13	50034245	50034245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacttatttttattttaggcGatgcaaaaactttctggatg	7	6	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:50034245G>A	uc001vcz.2	+	3	925	c.19G>A	c.(19-21)GAT>AAT	p.D7N	SETDB2_uc010adg.2_5'UTR|SETDB2_uc001vcy.3_Missense_Mutation_p.D7N|SETDB2_uc010adh.2_Missense_Mutation_p.D7N|SETDB2_uc001vda.2_Missense_Mutation_p.D7N	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2 isoform a	7					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		TATTTTAGGCGATGCAAAAAC	0.313													A	50034245	G	A	50034245	3	1	74	1	0	0	0	0	1	0	0	0	14139	1058	37	1	25	1	SETDB2	13	50034245	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	3489744	50034245	65135633	1217	51488											
PCDH8	5100	broad.mit.edu	37	chr13	53420348	53420348	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtcccattgcagcaccgAcccggacaccccgagccgag	11	18	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:53420348A>G	uc001vhi.2	-	1	2427	c.2224T>C	c.(2224-2226)TCG>CCG	p.S742P	PCDH8_uc001vhj.2_Missense_Mutation_p.S742P	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	742	Extracellular (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TGCAGCACCGACCCGGACACC	0.711													G	53420348	A	G	53420348	3	3	74	1	0	0	0	0	1	0	0	0	11517	275	10	3	1000	3	PCDH8	13	53420348	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	3386103	53420348	61749530	1218	51489											
PCDH8	5100	broad.mit.edu	37	chr13	53421738	53421738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcgaacaccacgtcgccGttaggtccctcgtcggggtc	12	14	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:53421738G>A	uc001vhi.2	-	1	1037	c.834C>T	c.(832-834)AAC>AAT	p.N278N	PCDH8_uc001vhj.2_Silent_p.N278N	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	278	Extracellular (Potential).|Cadherin 3.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCACGTCGCCGTTAGGTCCCT	0.741													A	53421738	G	A	53421738	2	1	74	1	0	0	0	0	0	0	0	1	11517	1136	40	1		1	PCDH8	13	53421738	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1390	53421738	61748140	1219	51490											
PCDH17	27253	broad.mit.edu	37	chr13	58208709	58208709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctaccctgtccgcagtgGccaagctcatcatccgctcg	9	17	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:58208709G>A	uc001vhq.1	+	1	2921	c.2029G>A	c.(2029-2031)GCC>ACC	p.A677T	PCDH17_uc010aec.1_Missense_Mutation_p.A677T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	677	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GTCCGCAGTGGCCAAGCTCAT	0.652													A	58208709	G	A	58208709	3	1	74	1	0	0	0	0	1	0	0	0	11512	1203	42	2	2031	2	PCDH17	13	58208709	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	4786971	58208709	56961169	1220	51491											
PCDH9	5101	broad.mit.edu	37	chr13	67801602	67801602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactgtcactttgtgaatgGctgtctcctctctatctaag	8	11	4	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:67801602G>A	uc001vik.2	-	2	1663	c.971C>T	c.(970-972)GCC>GTC	p.A324V	PCDH9_uc001vil.2_Missense_Mutation_p.A324V|PCDH9_uc010thl.1_Missense_Mutation_p.A324V|PCDH9_uc001vin.3_Missense_Mutation_p.A324V	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	324	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTTGTGAATGGCTGTCTCCTC	0.478													A	67801602	G	A	67801602	3	1	74	1	0	0	0	0	1	0	0	0	11518	1203	42	2	2758	2	PCDH9	13	67801602	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	9592893	67801602	47368276	1221	51492											
FBXL3	26224	broad.mit.edu	37	chr13	77589682	77589682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacagggatttggagtttaCgaacacaactgtcagtgcag	12	7	1	1	rs144677112	by1000genomes	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:77589682C>T	uc001vkd.2	-	4	876	c.505G>A	c.(505-507)GTA>ATA	p.V169I		NM_012158	NP_036290	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	169					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity				0		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TTGGAGTTTACGAACACAACT	0.343													T	77589682	C	T	77589682	3	4	74	1	0	0	0	0	1	0	0	0	5720	536	19	1	789	1	FBXL3	13	77589682	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	9788080	77589682	37580196	1222	51493											
EDNRB	1910	broad.mit.edu	37	chr13	78492843	78492843	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaacgctaataccgcccgcaGcctcttcgccagtatccacg	7	17	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:78492843G>T	uc001vko.2	-	1	124	c.-134C>A	c.(-136--132)GGCTG>GGATG		uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Intron|EDNRB_uc010aez.1_Translation_Start_Site|EDNRB_uc001vkp.1_Intron|EDNRB_uc010afa.1_Intron	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor						activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	ACCGCCCGCAGCCTCTTCGCC	0.577											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	78492843	G	T	78492843	1	4	74	1	0	0	0	0	0	0	0	0	4920	986	34	5		5	EDNRB	13	78492843	Translation_Start_Site	SNP	G	TCGA-BR-8361-01A-11D-2340-08	903161	78492843	36677035	1223	51494											
SLITRK5	26050	broad.mit.edu	37	chr13	88330296	88330296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaattcccgtgcagccccGctgcttacactttctccccc	5	20	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:88330296G>A	uc001vln.2	+	2	2872	c.2653G>A	c.(2653-2655)GCT>ACT	p.A885T	SLITRK5_uc010tic.1_Missense_Mutation_p.A644T	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	885	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GTGCAGCCCCGCTGCTTACAC	0.592													A	88330296	G	A	88330296	3	1	74	1	0	0	0	0	1	0	0	0	14746	1087	38	1	2655	1	SLITRK5	13	88330296	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	9837453	88330296	26839582	1224	51495											
HS6ST3	266722	broad.mit.edu	37	chr13	96743260	96743260	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgcgggggaggccggcccGcccgccgtcccgggtcccgc	18	20	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:96743260G>A	uc001vmw.2	+	1	168	c.144G>A	c.(142-144)CCG>CCA	p.P48P		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	48	Lumenal (Potential).					integral to membrane	sulfotransferase activity			ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					aggccggcccgcccgccgtcc	0.224													A	96743260	G	A	96743260	2	1	74	1	0	0	0	0	0	0	0	1	7372	1074	38	1		1	HS6ST3	13	96743260	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	8412964	96743260	18426618	1225	51496											
KDELC1	79070	broad.mit.edu	37	chr13	103443278	103443278	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatcaaaaaatgaaatatgTttcacaatgggaccatacag	6	6	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:103443278T>C	uc001vpq.3	-	6	1440	c.1056A>G	c.(1054-1056)AAA>AAG	p.K352K	KDELC1_uc001vpr.3_Silent_p.K133K	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1 precursor	352						endoplasmic reticulum lumen				ovary(1)	1	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATGAAATATGTTTCACAATGG	0.333													C	103443278	T	C	103443278	2	2	74	1	0	0	0	0	0	0	0	1	8117	1722	60	3		3	KDELC1	13	103443278	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	6700018	103443278	11726600	1226	51497											
FAM155A	728215	broad.mit.edu	37	chr13	108518413	108518413	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caccgtgaagcactggcccgAggacgcgccctgggggtaac	15	14	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:108518413A>T	uc001vql.2	-	1	1048	c.532T>A	c.(532-534)TCG>ACG	p.S178T		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	178						integral to membrane	binding			skin(1)	1						CACTGGCCCGAGGACGCGCCC	0.672													T	108518413	A	T	108518413	3	4	74	1	0	0	0	0	1	0	0	0	5465	304	11	5	856	5	FAM155A	13	108518413	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	5075135	108518413	6651465	1227	51498											
FAM155A	728215	broad.mit.edu	37	chr13	108518443	108518443	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggtaacaagtctccaGgcgccacacgggcttggcag	15	12	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:108518443G>T	uc001vql.2	-	1	1018	c.502C>A	c.(502-504)CTG>ATG	p.L168M		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	168						integral to membrane	binding			skin(1)	1						CAAGTCTCCAGGCGCCACACG	0.697													T	108518443	G	T	108518443	3	4	74	1	0	0	0	0	1	0	0	0	5465	991	35	5	886	5	FAM155A	13	108518443	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	30	108518443	6651435	1228	51499											
FAM155A	728215	broad.mit.edu	37	chr13	108518697	108518697	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgctgcctctgctgctgcTgctgctgctgctgctgccgc	13	17	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:108518697T>C	uc001vql.2	-	1	764	c.248A>G	c.(247-249)CAG>CGG	p.Q83R		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	83	Poly-Gln.					integral to membrane	binding			skin(1)	1						ctgctgctgctgctgctgctg	0.393													C	108518697	T	C	108518697	3	2	74	1	0	0	0	0	1	0	0	0	5465	1580	55	3	1140	3	FAM155A	13	108518697	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	254	108518697	6651181	1229	51500											
MYO16	23026	broad.mit.edu	37	chr13	109672094	109672094	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccttattggatgaagaAagtcaaatgatttggtcagt	9	6	3	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:109672094A>G	uc001vqt.1	+	23	2691	c.2565A>G	c.(2563-2565)GAA>GAG	p.E855E	MYO16_uc010agk.1_Silent_p.E877E|MYO16_uc001vqu.1_Silent_p.E655E|MYO16_uc010tjh.1_Silent_p.E367E	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	855	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGGATGAAGAAAGTCAAATGA	0.358													G	109672094	A	G	109672094	2	3	74	1	0	0	0	0	0	0	0	1	10064	11	1	3		3	MYO16	13	109672094	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1153397	109672094	5497784	1230	51501											
MCF2L	23263	broad.mit.edu	37	chr13	113731491	113731491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccggtggcccccagaccCgaggcactggcaaagtcgcc	13	17	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:113731491C>T	uc001vsu.2	+	13	1819	c.1797C>T	c.(1795-1797)CCC>CCT	p.P599P	MCF2L_uc001vsq.2_Silent_p.P599P|MCF2L_uc010tjr.1_Silent_p.P542P|MCF2L_uc001vsr.2_Silent_p.P546P|MCF2L_uc001vss.3_Silent_p.P540P|MCF2L_uc010tjs.1_Silent_p.P540P|MCF2L_uc001vst.1_Silent_p.P504P	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	572					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCCCCAGACCCGAGGCACTGG	0.731													T	113731491	C	T	113731491	2	4	74	1	0	0	0	0	0	0	0	1	9379	639	23	1		1	MCF2L	13	113731491	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	4059397	113731491	1438387	1231	51502											
GAS6	2621	broad.mit.edu	37	chr13	114542718	114542718	+	Frame_Shift_Del	DEL	C	C	-													tacctttgtcgcagagccggCccccccagccagctttacac							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:114542717_114542717GC>G	uc001vud.3	-	4	603	c.450_450GC>C	c.(448-450)ggcfs	p.G150fs	FLJ41484_uc010tki.2_5'Flank	NM_000820	NP_001137417	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 1, mRNA.	150	EGF-like 1; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CGCAGAGCCGGCCCCCCCAGC	0.647													-	114542718	C	-	114542718	7	5	74	1	0	1	0	1	0	0	0	0	6249	739	26	0	1631	0	GAS6	13	114542718	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	811227	114542718	627160	1232	51503											
RASA3	22821	broad.mit.edu	37	chr13	114773011	114773011	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttaccctccttacccTtctttaagcacgatgggctg	6	16	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:114773011T>G	uc001vui.2	-	18	1871	c.1740A>C	c.(1738-1740)GAA>GAC	p.E580D	RASA3_uc010tkk.1_Missense_Mutation_p.E548D|RASA3_uc001vuj.2_Missense_Mutation_p.E197D	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	580	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			ctccttaccctTCTTTAAGCA	0.249													G	114773011	T	G	114773011	3	3	74	1	0	0	0	0	1	0	0	0	13062	1606	56	5	792	5	RASA3	13	114773011	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	230293	114773011	396867	1233	51504											
UPF3A	65110	broad.mit.edu	37	chr13	115070300	115070300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctgtatgatccaggagctCgcttccgagcgcgagagtgt	14	10	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr13:115070300C>T	uc001vup.2	+	10	1376	c.1339C>T	c.(1339-1341)CGC>TGC	p.R447C	UPF3A_uc001vuq.2_Missense_Mutation_p.R414C|UPF3A_uc001vus.2_RNA|UPF3A_uc001vur.2_RNA|UPF3A_uc001vut.2_Missense_Mutation_p.R246C|UPF3A_uc001vuu.2_Silent_p.L100L	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A	447					mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			skin(1)	1	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		TCCAGGAGCTCGCTTCCGAGC	0.567													T	115070300	C	T	115070300	3	4	74	1	0	0	0	0	1	0	0	0	17002	884	31	1	1377	1	UPF3A	13	115070300	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	297289	115070300	99578	1234	51505											
ZNF219	51222	broad.mit.edu	37	chr14	21558908	21558908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggggctccagtggcgaaCgggcagaagaggcagcggtg	19	9	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:21558908C>T	uc001vzr.2	-	5	2377	c.1956G>A	c.(1954-1956)CCG>CCA	p.P652P	ZNF219_uc001vzs.2_Silent_p.P652P|ZNF219_uc010aik.1_Silent_p.P652P	NM_016423	NP_057507	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	652					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)	1	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CAGTGGCGAACGGGCAGAAGA	0.746													T	21558908	C	T	21558908	2	4	74	1	0	0	0	0	0	0	0	1	17770	523	19	1		1	ZNF219	14	21558908	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08		21558908	85790632	1235	51506											
SUPT16H	11198	broad.mit.edu	37	chr14	21827736	21827736	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgtagaactgcacatcCgtgtgccgcttcttcccaaa	8	13	2	1	rs139776422	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:21827736C>T	uc001wao.2	-	19	2547	c.2208G>A	c.(2206-2208)ACG>ACA	p.T736T	SUPT16H_uc001wan.2_5'Flank	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	736					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		ACTGCACATCCGTGTGCCGCT	0.468													T	21827736	C	T	21827736	2	4	74	1	0	0	0	0	0	0	0	1	15393	639	23	1		1	SUPT16H	14	21827736	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	268828	21827736	85521804	1236	51507											
SALL2	6297	broad.mit.edu	37	chr14	21993446	21993446	+	Frame_Shift_Del	DEL	C	C	-													tgggactggccaagatcaggCccccgcctcccccagccgct							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:21993445_21993445GC>G	uc001wbe.3	-	1	699	c.417_417GC>C	c.(415-417)ggcfs	p.G139fs	SALL2_uc010tly.2_Frame_Shift_Del_p.G137fs|SALL2_uc010tlz.1_Intron|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Intron|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	139	Poly-Gly.						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCAAGATCAGGCCCCCGCCTC	0.677													-	21993446	C	-	21993446	7	5	74	1	0	1	0	1	0	0	0	0	13811	739	26	0	2611	0	SALL2	14	21993446	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	165710	21993446	85356094	1237	51508											
CDH24	64403	broad.mit.edu	37	chr14	23523355	23523355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcaggaggctaaccttgcGgacagtgaggagcccgtctc	15	11	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:23523355G>A	uc001wil.2	-	6	1227	c.967C>T	c.(967-969)CGC>TGC	p.R323C	CDH24_uc010akf.2_Missense_Mutation_p.R323C|CDH24_uc001win.3_Missense_Mutation_p.R323C	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	323	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CTAACCTTGCGGACAGTGAGG	0.552													A	23523355	G	A	23523355	3	1	74	1	0	0	0	0	1	0	0	0	3109	1116	39	1	1524	1	CDH24	14	23523355	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1529909	23523355	83826185	1238	51509											
EFS	10278	broad.mit.edu	37	chr14	23829044	23829044	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagggggcagcatagatggGgggccccggctcccggcctc	19	13	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:23829044G>T	uc001wjo.2	-	4	1251	c.643C>A	c.(643-645)CCC>ACC	p.P215T	EFS_uc001wjp.2_Missense_Mutation_p.P122T|EFS_uc010tnm.1_Intron	NM_005864	NP_005855	O43281	EFS_HUMAN	embryonal Fyn-associated substrate isoform 1	215	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			large_intestine(1)	1	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GCATAGATGGGGGGCCCCGGC	0.617													T	23829044	G	T	23829044	3	4	74	1	0	0	0	0	1	0	0	0	4959	1232	43	5	1054	5	EFS	14	23829044	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	305689	23829044	83520496	1239	51510											
MYH6	4624	broad.mit.edu	37	chr14	23853869	23853869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccatgttcttcttcatgcGctccaggtgggcgctggtgt	12	12	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:23853869G>A	uc001wjv.2	-	36	5414	c.5347C>T	c.(5347-5349)CGC>TGC	p.R1783C		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1783	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTCTTCATGCGCTCCAGGTGG	0.617													A	23853869	G	A	23853869	3	1	74	1	0	0	0	0	1	0	0	0	10038	1087	38	1	488	1	MYH6	14	23853869	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	24825	23853869	83495671	1240	51511											
MYH6	4624	broad.mit.edu	37	chr14	23871981	23871981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagacacgaaggcgtagtcGtagggattgttggtgaccag	16	6	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:23871981G>A	uc001wjv.2	-	11	994	c.927C>T	c.(925-927)TAC>TAT	p.Y309Y	MYH6_uc010akp.1_Silent_p.Y309Y	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	309	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGGCGTAGTCGTAGGGATTGT	0.418													A	23871981	G	A	23871981	2	1	74	1	0	0	0	0	0	0	0	1	10038	1140	40	1		1	MYH6	14	23871981	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	18112	23871981	83477559	1241	51512											
JPH4	84502	broad.mit.edu	37	chr14	24040511	24040511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggaggcagtgggctccGgcaggcagggggtcgccagg	20	11	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:24040511G>A	uc001wkq.2	-	6	2347	c.1429C>T	c.(1429-1431)CGG>TGG	p.R477W	JPH4_uc010tnr.1_Missense_Mutation_p.R142W|JPH4_uc001wkr.2_Missense_Mutation_p.R477W	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	junctophilin 4	477	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				ovary(1)|pancreas(1)	2	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		AGTGGGCTCCGGCAGGCAGGG	0.682													A	24040511	G	A	24040511	3	1	74	1	0	0	0	0	1	0	0	0	7963	1115	39	1	465	1	JPH4	14	24040511	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	168530	24040511	83309029	1242	51513											
CPNE6	9362	broad.mit.edu	37	chr14	24543949	24543949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaaccccagctgggagcCgttccgcctgtccctgcatt	10	17	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:24543949C>T	uc001wll.2	+	7	716	c.617C>T	c.(616-618)CCG>CTG	p.P206L	CPNE6_uc010tnv.1_Missense_Mutation_p.P261L|CPNE6_uc001wlm.2_Missense_Mutation_p.P31L|CPNE6_uc001wln.2_5'Flank	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	206	C2 2.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0184)		AGCTGGGAGCCGTTCCGCCTG	0.557													T	24543949	C	T	24543949	3	4	74	1	0	0	0	0	1	0	0	0	3816	652	23	1	639	1	CPNE6	14	24543949	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	503438	24543949	82805591	1243	51514											
DCAF11	80344	broad.mit.edu	37	chr14	24589034	24589034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggatcgacgcaccatgCgggaggatgaccccaagcct	14	12	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:24589034C>T	uc001wlv.2	+	11	1301	c.1021C>T	c.(1021-1023)CGG>TGG	p.R341W	DCAF11_uc001wlw.2_Missense_Mutation_p.R341W|DCAF11_uc001wlz.2_Missense_Mutation_p.R241W|DCAF11_uc001wly.2_Missense_Mutation_p.R297W|DCAF11_uc001wme.2_Missense_Mutation_p.R301W|DCAF11_uc010tny.1_Missense_Mutation_p.R208W|DCAF11_uc001wmd.2_Missense_Mutation_p.R341W|DCAF11_uc001wmc.2_Missense_Mutation_p.R241W|DCAF11_uc001wmb.3_Missense_Mutation_p.R315W|DCAF11_uc001wma.3_Missense_Mutation_p.R341W	NM_001163484	NP_001156956	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11 isoform 1	341	WD 4.					CUL4 RING ubiquitin ligase complex	protein binding				0						ACGCACCATGCGGGAGGATGA	0.552													T	24589034	C	T	24589034	3	4	74	1	0	0	0	0	1	0	0	0	4262	759	27	1	1059	1	DCAF11	14	24589034	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	45085	24589034	82760506	1244	51515											
TM9SF1	10548	broad.mit.edu	37	chr14	24658815	24658815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagaggaagatgaagaggcCggtggagccaacactcagca	15	8	1	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:24658815C>T	uc001wnb.1	-	6	1975	c.1627G>A	c.(1627-1629)GGC>AGC	p.G543S	IPO4_uc001wmu.2_5'Flank|IPO4_uc001wmv.1_5'Flank|IPO4_uc001wmx.1_5'UTR|IPO4_uc001wmy.1_5'UTR|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_5'UTR|TM9SF1_uc010toa.1_Missense_Mutation_p.G456S|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Missense_Mutation_p.G778S	NM_006405	NP_006396	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1 isoform a	543	Helical; (Potential).				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0183)		ATGAAGAGGCCGGTGGAGCCA	0.542													T	24658815	C	T	24658815	3	4	74	1	0	0	0	0	1	0	0	0	15974	652	23	1	197	1	TM9SF1	14	24658815	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	69781	24658815	82690725	1245	51516											
NYNRIN	57523	broad.mit.edu	37	chr14	24879282	24879282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacctcgccacctgcaagCgaacagcacagtgaccagct	9	17	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:24879282C>T	uc001wpf.3	+	4	2600	c.2282C>T	c.(2281-2283)GCG>GTG	p.A761V		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	761					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						CACCTGCAAGCGAACAGCACA	0.627													T	24879282	C	T	24879282	3	4	74	1	0	0	0	0	1	0	0	0	10796	768	27	1	2292	1	NYNRIN	14	24879282	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	220467	24879282	82470258	1246	51517											
PRKD1	5587	broad.mit.edu	37	chr14	30135310	30135310	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttaagaccttgacgtaccaGcccccacagcatttctccac	5	16	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:30135310G>C	uc001wqh.2	-	3	689	c.508C>G	c.(508-510)CTG>GTG	p.L170V		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	170	Phorbol-ester/DAG-type 1.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TGACGTACCAGCCCCCACAGC	0.368													C	30135310	G	C	30135310	3	2	74	1	0	0	0	0	1	0	0	0	12518	962	34	5	2294	5	PRKD1	14	30135310	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	5256028	30135310	77214230	1247	51518											
STRN3	29966	broad.mit.edu	37	chr14	31380367	31380367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctaatgacagaacagggcCgctattgtaggaagagagga	14	6	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:31380367C>T	uc001wqu.2	-	13	1816	c.1600G>A	c.(1600-1602)GGC>AGC	p.G534S	STRN3_uc001wqv.2_Missense_Mutation_p.G450S|STRN3_uc010tpj.1_RNA	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	nuclear autoantigen isoform 1	534	WD 2.				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		AGAACAGGGCCGCTATTGTAG	0.383													T	31380367	C	T	31380367	3	4	74	1	0	0	0	0	1	0	0	0	15329	666	23	1	817	1	STRN3	14	31380367	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1245057	31380367	75969173	1248	51519											
HEATR5A	25938	broad.mit.edu	37	chr14	31777196	31777196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccatggttgcatctgaaCgtaaggaacatagaaattcc	8	8	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:31777196C>T	uc001wrf.3	-	24	3919	c.3842G>A	c.(3841-3843)CGT>CAT	p.R1281H	HEATR5A_uc010ami.2_Missense_Mutation_p.R1179H	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1568							binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TGCATCTGAACGTAAGGAACA	0.378													T	31777196	C	T	31777196	3	4	74	1	0	0	0	0	1	0	0	0	7031	536	19	1	1447	1	HEATR5A	14	31777196	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	396829	31777196	75572344	1249	51520											
NFKBIA	4792	broad.mit.edu	37	chr14	35872932	35872932	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggaagttgaggaaggccagGtctcccttcacctggcggat	14	10	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:35872932G>C	uc001wtf.3	-	2	410	c.300C>G	c.(298-300)GAC>GAG	p.D100E	NFKBIA_uc001wte.3_Missense_Mutation_p.D10E|NFKBIA_uc001wtg.3_Missense_Mutation_p.D100E|NFKBIA_uc010amo.2_Intron	NM_020529	NP_065390	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene	100	ANK 1.				anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(2)	2	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		GGAAGGCCAGGTCTCCCTTCA	0.577													C	35872932	G	C	35872932	3	2	74	1	0	0	0	0	1	0	0	0	10377	1252	44	5	673	5	NFKBIA	14	35872932	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	4095736	35872932	71476608	1250	51521											
INSM2	84684	broad.mit.edu	37	chr14	36005057	36005058	+	Frame_Shift_Ins	INS	-	-	T													gcaagcactgcccgtccactINSttttttagctctccagggct							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:36005056_36005057C>CT	uc001wth.1	+	0	1809_1810	c.1598_1599C>CT	c.(1597-1599)actfs	p.T533fs		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	Homo sapiens insulinoma-associated 2 (INSM2), mRNA.	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		TGCCCGTCCACTTTTTTTAGCT	0.629													T	36005058	-	T	36005057	7	5	74	1	0	1	1	0	0	0	0	0	7772	1596	56	0	1601	0	INSM2	14	36005057	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	132125	36005057	71344483	1251	51522											
NKX2-1	7080	broad.mit.edu	37	chr14	36988395	36988395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgtggtgccccacggcGtgctgctgcatggccgctgt	16	15	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:36988395G>A	uc001wtt.2	-	1	509	c.168C>T	c.(166-168)CAC>CAT	p.H56H	SFTA3_uc001wts.2_Intron|NKX2-1_uc001wtu.2_Silent_p.H86H|NKX2-1_uc001wtv.2_Silent_p.H56H|uc001wtw.1_5'Flank	NM_003317	NP_003308	P43699	NKX21_HUMAN	thyroid transcription factor 1 isoform 2	56					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			skin(1)	1	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		GCCCCACGGCGTGCTGCTGCA	0.741			A		NSCLC								A	36988395	G	A	36988395	2	1	74	1	0	0	0	0	0	0	0	1	10449	1136	40	1		1	NKX2-1	14	36988395	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	983338	36988395	70361145	1252	51523											
CLEC14A	161198	broad.mit.edu	37	chr14	38725131	38725131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtagcaggcccccgaggCcgagcagccagcacggtcgg	16	15	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:38725131C>T	uc001wum.1	-	1	444	c.97G>A	c.(97-99)GCC>ACC	p.A33T		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	33	Extracellular (Potential).|C-type lectin.					integral to membrane	sugar binding			ovary(3)|skin(1)	4	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GCCCCCGAGGCCGAGCAGCCA	0.632													T	38725131	C	T	38725131	3	4	74	1	0	0	0	0	1	0	0	0	3499	739	26	2	1379	2	CLEC14A	14	38725131	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1736736	38725131	68624409	1253	51524											
CDKL1	8814	broad.mit.edu	37	chr14	50862593	50862593	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatacttctccatcatagaGgaataaatcttcttaaaatg	4	8	5	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:50862593G>T	uc010anu.1	-	5	564	c.564C>A	c.(562-564)TCC>TCA	p.S188S	CDKL1_uc001wxz.2_5'UTR	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1	Error:Variant_position_missing_in_Q00532_after_alignment						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(1)|stomach(1)	2	all_epithelial(31;0.000746)|Breast(41;0.0102)					CCATCATAGAGGAATAAATCT	0.239													T	50862593	G	T	50862593	2	4	74	1	0	0	0	0	0	0	0	1	3153	1015	35	5		5	CDKL1	14	50862593	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	12137462	50862593	56486947	1254	51525											
ABHD12B	145447	broad.mit.edu	37	chr14	51347195	51347195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtccccagctgccgggggGaagatgccaaggggaaggac	17	11	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:51347195G>A	uc001wys.2	+	4	376	c.361G>A	c.(361-363)GAA>AAA	p.E121K	ABHD12B_uc001wyq.2_Missense_Mutation_p.E14K|ABHD12B_uc001wyr.2_Missense_Mutation_p.E44K|ABHD12B_uc010any.2_RNA	NM_181533	NP_853511	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B isoform b	121							hydrolase activity			breast(1)	1	all_epithelial(31;0.00481)|Breast(41;0.148)					CTGCCGGGGGGAAGATGCCAA	0.498													A	51347195	G	A	51347195	3	1	74	1	0	0	0	0	1	0	0	0	77	1175	41	4	154	4	ABHD12B	14	51347195	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	484602	51347195	56002345	1255	51526											
NID2	22795	broad.mit.edu	37	chr14	52534720	52534720	+	Frame_Shift_Del	DEL	G	G	-													gcggccaggcccagcactgcGggggaggtgtcctctcggta							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:52534719_52534719CG>C	uc001wzo.3	-	1	625	c.391_391CG>G	c.(391-393)gcafs	p.A131fs	NID2_uc010tqs.2_Frame_Shift_Del_p.A131fs|NID2_uc010tqt.1_Frame_Shift_Del_p.A131fs|NID2_uc001wzp.3_Frame_Shift_Del_p.A131fs	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	131	NIDO.					basement membrane	calcium ion binding|collagen binding	p.P130P(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CCCAGCACTGCGGGGGAGGTG	0.687													-	52534720	G	-	52534720	7	5	74	1	0	1	0	1	0	0	0	0	10415	1103	39	0	3821	0	NID2	14	52534720	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	1187525	52534720	54814820	1256	51527											
FERMT2	10979	broad.mit.edu	37	chr14	53386064	53386065	+	Frame_Shift_Ins	INS	-	-	T													gagcatggtcagaccaatctINSttttttacatctataaaaaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:53386063_53386064C>CT	uc001xac.3	-	2	354_355	c.168_169G>AG	c.(166-171)aaagatfs	p.K56fs	FERMT2_uc001xad.3_Frame_Shift_Ins_p.K56fs|FERMT2_uc001xae.3_Frame_Shift_Ins_p.K56fs|FERMT2_uc001xaf.3_Frame_Shift_Ins_p.K56fs	NM_001134999	NP_001128471	Q96AC1	FERM2_HUMAN	Homo sapiens fermitin family member 2 (FERMT2), transcript variant 2, mRNA.	56					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TCAGACCAATCTTTTTTTACAT	0.337													T	53386065	-	T	53386064	7	5	74	1	0	1	1	0	0	0	0	0	5818	1606	56	0	1963	0	FERMT2	14	53386064	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	851344	53386064	53963476	1257	51528											
DDHD1	80821	broad.mit.edu	37	chr14	53540568	53540568	+	Splice_Site	DEL	A	A	-													cttgcagcttctctcatcctAaaaaaacaaacaaacaaaaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:53540567_53540567TA>T	uc001xai.3	-	5	1520	c.1290_splice	c.e5-1	p.M430_splice	DDHD1_uc001xaj.3_Splice_Site_p.M437_splice|DDHD1_uc001xah.3_Splice_Site_p.M430_splice|DDHD1_uc001xag.3_Splice_Site_p.M12_splice	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	430					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCTCTCATCCTAAAAAAACAA	0.313													-	53540568	A	-	53540568	8	5	74	1	0	1	0	1	0	0	1	0	4326	377	13	0		0	DDHD1	14	53540568	Splice_Site	DEL	A	TCGA-BR-8361-01A-11D-2340-08	154504	53540568	53808972	1258	51529											
GMFB	2764	broad.mit.edu	37	chr14	54944856	54944856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccattcttcagttaggtcttCggtatttcttatttcaaata	5	8	5	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:54944856C>T	uc010tqz.1	-	7	478	c.379G>A	c.(379-381)GAA>AAA	p.E127K	GMFB_uc001xaw.1_RNA	NM_004124	NP_004115	P60983	GMFB_HUMAN	glia maturation factor, beta	127	ADF-H.				nervous system development|protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity				0						GTTAGGTCTTCGGTATTTCTT	0.264													T	54944856	C	T	54944856	3	4	74	1	0	0	0	0	1	0	0	0	6489	893	31	1	53	1	GMFB	14	54944856	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1404288	54944856	52404684	1259	51530											
PELI2	57161	broad.mit.edu	37	chr14	56763702	56763702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattttatgtagacgcaggaCcgccaactcatgctttcact	8	11	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:56763702C>T	uc001xch.2	+	6	1367	c.1081C>T	c.(1081-1083)CCG>TCG	p.P361S		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	pellino 2	361					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			ovary(1)	1						AGACGCAGGACCGCCAACTCA	0.552													T	56763702	C	T	56763702	3	4	74	1	0	0	0	0	1	0	0	0	11722	507	18	4	1103	4	PELI2	14	56763702	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1818846	56763702	50585838	1260	51531											
C14orf37	145407	broad.mit.edu	37	chr14	58606016	58606016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagacattgtgtggcaaCgctgaaaagcagaaggctac	13	9	0	3	rs147297953	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:58606016C>T	uc001xdc.2	-	2	172	c.61G>A	c.(61-63)GTT>ATT	p.V21I	C14orf37_uc010tro.1_Missense_Mutation_p.V59I|C14orf37_uc001xdd.2_Missense_Mutation_p.V21I|C14orf37_uc001xde.2_Missense_Mutation_p.V21I	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	hypothetical protein LOC145407 precursor	21						integral to membrane	binding				0						TGTGTGGCAACGCTGAAAAGC	0.473													T	58606016	C	T	58606016	3	4	74	1	0	0	0	0	1	0	0	0	1771	536	19	1	2291	1	C14orf37	14	58606016	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1842314	58606016	48743524	1261	51532											
C14orf37	145407	broad.mit.edu	37	chr14	58606066	58606066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaatgtgcaatacaatcGgtcctctcatagtggaagag	10	8	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:58606066G>A	uc001xdc.2	-	2	122	c.11C>T	c.(10-12)CCG>CTG	p.P4L	C14orf37_uc010tro.1_Missense_Mutation_p.P42L|C14orf37_uc001xdd.2_Missense_Mutation_p.P4L|C14orf37_uc001xde.2_Missense_Mutation_p.P4L	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	hypothetical protein LOC145407 precursor	4						integral to membrane	binding				0						CAATACAATCGGTCCTCTCAT	0.433													A	58606066	G	A	58606066	3	1	74	1	0	0	0	0	1	0	0	0	1771	1116	39	1	2341	1	C14orf37	14	58606066	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	50	58606066	48743474	1262	51533											
DAAM1	23002	broad.mit.edu	37	chr14	59793693	59793693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcagtggaaagaacaagcGgaaaaaatgagaaaaggtaa	12	3	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:59793693G>A	uc001xdz.1	+	12	1481	c.1356G>A	c.(1354-1356)GCG>GCA	p.A452A	DAAM1_uc001xea.1_Silent_p.A452A|DAAM1_uc001xeb.1_Silent_p.A452A	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	452	Potential.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AAGAACAAGCGGAAAAAATGA	0.338													A	59793693	G	A	59793693	2	1	74	1	0	0	0	0	0	0	0	1	4215	1103	39	1		1	DAAM1	14	59793693	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1187627	59793693	47555847	1263	51534											
DAAM1	23002	broad.mit.edu	37	chr14	59826194	59826194	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaatctaaatgaagaattgCgagatattcctcaagctgcg	8	8	3	3	rs148831209		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:59826194C>T	uc001xdz.1	+	22	2760	c.2635C>T	c.(2635-2637)CGA>TGA	p.R879*	DAAM1_uc001xea.1_Nonsense_Mutation_p.R869*|DAAM1_uc001xec.1_RNA	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	879	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TGAAGAATTGCGAGATATTCC	0.368													T	59826194	C	T	59826194	4	4	74	1	0	0	0	0	0	1	0	0	4215	760	27	1	2717	1	DAAM1	14	59826194	Nonsense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	32501	59826194	47523346	1264	51535											
C14orf149	112849	broad.mit.edu	37	chr14	59950727	59950727	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcactgcgtggccgcacAtggagctgtagccctcgttg	13	14	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:59950727A>G	uc001xee.1	-	1	347	c.308T>C	c.(307-309)ATG>ACG	p.M103T	C14orf149_uc010trx.1_Missense_Mutation_p.M103T|JKAMP_uc001xef.3_5'Flank|JKAMP_uc001xeh.3_5'Flank|JKAMP_uc001xeg.3_5'Flank|JKAMP_uc010try.1_5'Flank|JKAMP_uc001xei.3_5'Flank	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	proline racemase-like	103							proline racemase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	GTGGCCGCACATGGAGCTGTA	0.701											OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	59950727	A	G	59950727	3	3	74	1	0	0	0	0	1	0	0	0	1752	217	8	3	776	3	C14orf149	14	59950727	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	124533	59950727	47398813	1265	51536											
SNAPC1	6617	broad.mit.edu	37	chr14	62242911	62242911	+	Frame_Shift_Del	DEL	T	T	-													ctcagcttgataaaggatgaTttttttgacaatattaagaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:62242910_62242910AT>A	uc001xft.3	+	4	736	c.632_632AT>A	c.(631-633)gatfs	p.D211fs		NM_003082	NP_003073	Q16533	SNPC1_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 1, 43kDa (SNAPC1), mRNA.	211	SNAPC4-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.D214fs*1(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		ATAAAGGATGATTTTTTTGAC	0.358													-	62242911	T	-	62242911	7	5	74	1	0	1	0	1	0	0	0	0	14834	1490	52	0	651	0	SNAPC1	14	62242911	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	2292184	62242911	45106629	1266	51537											
KCNH5	27133	broad.mit.edu	37	chr14	63483611	63483611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagagtttacaaaaaccGtcattactataaactacagg	6	9	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:63483611G>A	uc001xfx.2	-	2	186	c.135C>T	c.(133-135)GAC>GAT	p.D45D	KCNH5_uc001xfy.2_Silent_p.D45D|KCNH5_uc001xfz.1_Translation_Start_Site|KCNH5_uc001xga.2_Translation_Start_Site	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	45	Cytoplasmic (Potential).|PAS.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TACAAAAACCGTCATTACTAT	0.378													A	63483611	G	A	63483611	2	1	74	1	0	0	0	0	0	0	0	1	8035	1136	40	1		1	KCNH5	14	63483611	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1240700	63483611	43865929	1267	51538											
PLEKHG3	26030	broad.mit.edu	37	chr14	65208053	65208053	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccaggccagcgtcattgcGgagcgatttgtcagcagctt	13	11	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:65208053G>A	uc001xho.1	+	16	2087	c.1818G>A	c.(1816-1818)GCG>GCA	p.A606A	PLEKHG3_uc001xhn.1_Silent_p.A550A|PLEKHG3_uc001xhp.2_Silent_p.A727A|PLEKHG3_uc010aqh.1_Silent_p.A148A|PLEKHG3_uc001xhq.1_Silent_p.A111A	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	606					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCGTCATTGCGGAGCGATTTG	0.647													A	65208053	G	A	65208053	2	1	74	1	0	0	0	0	0	0	0	1	12070	1103	39	1		1	PLEKHG3	14	65208053	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1724442	65208053	42141487	1268	51539											
DCAF5	8816	broad.mit.edu	37	chr14	69584873	69584873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctccatggggggattccCgaatgtcccaaatgagaacc	10	12	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:69584873C>T	uc001xkp.2	-	4	737	c.518G>A	c.(517-519)CGG>CAG	p.R173Q	DCAF5_uc001xkq.2_Missense_Mutation_p.R172Q|DCAF5_uc001xkr.3_Missense_Mutation_p.R173Q	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	173	WD 3.					CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2						GGGGGATTCCCGAATGTCCCA	0.458													T	69584873	C	T	69584873	3	4	74	1	0	0	0	0	1	0	0	0	4273	652	23	1	2334	1	DCAF5	14	69584873	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	4376820	69584873	37764667	1269	51540											
SIPA1L1	26037	broad.mit.edu	37	chr14	72138134	72138134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctaagccatatccaggagccGagctcagcagcatgggggcc	13	13	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:72138134G>A	uc001xms.2	+	8	2902	c.2554G>A	c.(2554-2556)GAG>AAG	p.E852K	SIPA1L1_uc001xmt.2_Missense_Mutation_p.E852K|SIPA1L1_uc001xmu.2_Missense_Mutation_p.E852K|SIPA1L1_uc001xmv.2_Missense_Mutation_p.E852K|SIPA1L1_uc010ttm.1_Missense_Mutation_p.E327K	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	852					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCCAGGAGCCGAGCTCAGCAG	0.502													A	72138134	G	A	72138134	3	1	74	1	0	0	0	0	1	0	0	0	14329	1059	37	1	2580	1	SIPA1L1	14	72138134	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2553261	72138134	35211406	1270	51541											
SIPA1L1	26037	broad.mit.edu	37	chr14	72165809	72165810	+	Frame_Shift_Ins	INS	-	-	G													ccagtgatactggttctgtgINSgggggcacttacaggcagaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:72165808_72165809T>TG	uc001xms.3	+	10	3846_3847	c.3485_3486T>TG	c.(3484-3486)gtgfs	p.V1162fs	SIPA1L1_uc001xmt.3_Frame_Shift_Ins_p.V1162fs|SIPA1L1_uc001xmu.3_Frame_Shift_Ins_p.V1162fs|SIPA1L1_uc001xmv.3_Frame_Shift_Ins_p.V1162fs|SIPA1L1_uc010ttm.2_Frame_Shift_Ins_p.V637fs	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1162					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTGGTTCTGTGGGGGGCACTT	0.495													G	72165810	-	G	72165809	7	5	74	1	0	1	1	0	0	0	0	0	14329	1335	47	0	3524	0	SIPA1L1	14	72165809	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	27675	72165809	35183731	1271	51542											
C14orf45	80127	broad.mit.edu	37	chr14	74516522	74516523	+	Frame_Shift_Del	DEL	AA	AA	-													ctgctctgagttacatgaccAaagagtttgagagtgaagtt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:74516522_74516523delAA	uc010tup.1	+	8	1033_1034	c.910_911delAA	c.(910-912)AAAfs	p.K304fs	C14orf45_uc001xpm.1_RNA	NM_025057	NP_079333	Q8ND07	CN045_HUMAN	hypothetical protein LOC80127	304	Potential.										0				BRCA - Breast invasive adenocarcinoma(234;0.00351)		TTACATGACCAAAGAGTTTGAG	0.421													-	74516523	AA	-	74516522	7	5	74	1	0	1	0	1	0	0	0	0	1775	131	5	0	940	0	C14orf45	14	74516522	Frame_Shift_Del	DEL	AA	TCGA-BR-8361-01A-11D-2340-08	2350713	74516522	32833018	1272	51543											
MLH3	27030	broad.mit.edu	37	chr14	75514685	75514685	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggctggcatcccacttcAgtagcatctttaaatctctt	7	11	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:75514685A>C	uc001xrd.1	-	2	1890	c.1674T>G	c.(1672-1674)ACT>ACG	p.T558T	MLH3_uc001xre.1_Silent_p.T558T|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	558					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ATCCCACTTCAGTAGCATCTT	0.368								MMR					C	75514685	A	C	75514685	2	2	74	1	0	0	0	0	0	0	0	1	9618	175	7	5		5	MLH3	14	75514685	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	998163	75514685	31834855	1273	51544											
NRXN3	9369	broad.mit.edu	37	chr14	79181374	79181374	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcacggatgagtgccaagCagtgtgacagctacccctgc	12	12	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:79181374C>T	uc001xun.2	+	5	1308	c.817C>T	c.(817-819)CAG>TAG	p.Q273*	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Nonsense_Mutation_p.Q407*	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	646	EGF-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GAGTGCCAAGCAGTGTGACAG	0.557													T	79181374	C	T	79181374	4	4	74	1	0	0	0	0	0	1	0	0	10667	711	25	2	827	2	NRXN3	14	79181374	Nonsense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3666689	79181374	28168166	1274	51545											
EML5	161436	broad.mit.edu	37	chr14	89206753	89206753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgggctccttgtattgttCgtataagattgattcctttc	8	8	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:89206753C>T	uc001xxg.2	-	6	875	c.689G>A	c.(688-690)CGA>CAA	p.R230Q		NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	230	WD 4.					cytoplasm|microtubule				ovary(3)	3						TTGTATTGTTCGTATAAGATT	0.353													T	89206753	C	T	89206753	3	4	74	1	0	0	0	0	1	0	0	0	5100	884	31	1	5400	1	EML5	14	89206753	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	10025379	89206753	18142787	1275	51546											
SLC24A4	123041	broad.mit.edu	37	chr14	92790255	92790255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaagtcggcttcgtgtgCgcggtgctggccctggtgtg	17	11	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:92790255C>T	uc001yak.2	+	1	54	c.30C>T	c.(28-30)TGC>TGT	p.C10C	SLC24A4_uc001yai.2_Intron|SLC24A4_uc010twm.1_Silent_p.C27C|SLC24A4_uc001yaj.2_Silent_p.C10C	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	27						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GCTTCGTGTGCGCGGTGCTGG	0.701													T	92790255	C	T	92790255	2	4	74	1	0	0	0	0	0	0	0	1	14468	776	27	1		1	SLC24A4	14	92790255	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3583502	92790255	14559285	1276	51547											
PPP1R13B	23368	broad.mit.edu	37	chr14	104206767	104206767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgtggcaggctctccacGgtgctgccatctgcgggggc	17	14	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr14:104206767G>A	uc001yof.1	-	12	2269	c.1986C>T	c.(1984-1986)ACC>ACT	p.T662T	PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Silent_p.T529T	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	662	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GGCTCTCCACGGTGCTGCCAT	0.652													A	104206767	G	A	104206767	2	1	74	1	0	0	0	0	0	0	0	1	12357	1103	39	1		1	PPP1R13B	14	104206767	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	11416512	104206767	3142773	1277	51548											
OR4M2	390538	broad.mit.edu	37	chr15	22368649	22368649	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagactccagaggtccaacTagtcctatttgttatatttc	6	11	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:22368649T>G	uc010tzu.1	+	1	74	c.74T>G	c.(73-75)CTA>CGA	p.L25R	LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	25	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GAGGTCCAACTAGTCCTATTT	0.383													G	22368649	T	G	22368649	3	3	74	1	0	0	0	0	1	0	0	0	11076	1522	53	5	76	5	OR4M2	15	22368649	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08		22368649	80162743	1278	51549											
OR4N4	283694	broad.mit.edu	37	chr15	22383027	22383027	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtgatgtccgacaggtcatCaagctggcttgcaccgacat	11	11	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:22383027C>T	uc001yuc.1	+	7	1536	c.555C>T	c.(553-555)ATC>ATT	p.I185I	LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Silent_p.I185I	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	185	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACAGGTCATCAAGCTGGCTT	0.517													T	22383027	C	T	22383027	2	4	74	1	0	0	0	0	0	0	0	1	11078	816	29	4		4	OR4N4	15	22383027	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	14378	22383027	80148365	1279	51550											
CYFIP1	23191	broad.mit.edu	37	chr15	22999351	22999351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcagcaaattgccatcGcaagagagggggacctgctg	13	10	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:22999351G>A	uc001yus.2	+	29	3327	c.3223G>A	c.(3223-3225)GCA>ACA	p.A1075T	CYFIP1_uc001yut.2_Missense_Mutation_p.A1075T|CYFIP1_uc001yuu.2_Missense_Mutation_p.A644T|CYFIP1_uc001yuv.2_Missense_Mutation_p.A269T	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	1075					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AATTGCCATCGCAAGAGAGGG	0.527													A	22999351	G	A	22999351	3	1	74	1	0	0	0	0	1	0	0	0	4137	1087	38	1	3714	1	CYFIP1	15	22999351	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	616324	22999351	79532041	1280	51551											
MKRN3	7681	broad.mit.edu	37	chr15	23811405	23811405	+	Frame_Shift_Del	DEL	C	C	-													gactcaggaagtggcggaagCccccccggctgcatcctccc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:23811404_23811404GC>G	uc001ywh.4	+	0	951	c.475_475GC>G	c.(475-477)gccfs	p.A159fs	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Frame_Shift_Del_p.A159fs	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	159						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGTGGCGGAAGCCCCCCCGGC	0.647													-	23811405	C	-	23811405	7	5	74	1	0	1	0	1	0	0	0	0	9608	739	26	0	478	0	MKRN3	15	23811405	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	812054	23811405	78719987	1281	51552											
C15orf2	23742	broad.mit.edu	37	chr15	24921855	24921855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagttggctgcggaagtgCtgaatgaagagccaccgccc	14	10	0	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:24921855C>T	uc001ywo.2	+	1	1315	c.841C>T	c.(841-843)CTG>TTG	p.L281L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	281					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TGCGGAAGTGCTGAATGAAGA	0.592													T	24921855	C	T	24921855	2	4	74	1	0	0	0	0	0	0	0	1	1784	796	28	2		2	C15orf2	15	24921855	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1110450	24921855	77609537	1282	51553											
OCA2	4948	broad.mit.edu	37	chr15	28117031	28117031	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttattagcaaagcagtttgtTctccaacatattctattaag	5	7	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:28117031T>C	uc001zbh.3	-	20	2227	c.2117A>G	c.(2116-2118)GAA>GGA	p.E706G	OCA2_uc010ayv.2_Missense_Mutation_p.E682G	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	706	Extracellular (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGCAGTTTGTTCTCCAACATA	0.318									Oculocutaneous_Albinism				C	28117031	T	C	28117031	3	2	74	1	0	0	0	0	1	0	0	0	10815	1783	62	3	419	3	OCA2	15	28117031	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	3195176	28117031	74414361	1283	51554											
HERC2	8924	broad.mit.edu	37	chr15	28463820	28463820	+	Splice_Site	DEL	A	A	-													tttcagtttgttcggcttctAaaaaaaataatcaaaattac							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:28463819_28463819TA>T	uc001zbj.3	-	38	5952	c.5846_splice	c.e38-1	p.E1949_splice		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1949					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTTCGGCTTCTAAAAAAAATA	0.333													-	28463820	A	-	28463820	8	5	74	1	0	1	0	1	0	0	1	0	7058	377	13	0		0	HERC2	15	28463820	Splice_Site	DEL	A	TCGA-BR-8361-01A-11D-2340-08	346789	28463820	74067572	1284	51555											
CHRFAM7A	89832	broad.mit.edu	37	chr15	30659622	30659622	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggggtgggaggaacgtaccCacttgggcatcttgcccccg	16	12	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:30659622C>G	uc001zdt.1	-	9	1285	c.719G>C	c.(718-720)TGG>TCG	p.W240S	DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Missense_Mutation_p.W149S|CHRFAM7A_uc010azn.2_Missense_Mutation_p.W149S	NM_139320	NP_647536	Q494W8	CRFM7_HUMAN	CHRNA7-FAM7A fusion isoform 1	240	Helical; (Potential).					integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity			skin(1)	1		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		GGAACGTACCCACTTGGGCAT	0.572													G	30659622	C	G	30659622	3	3	74	1	0	0	0	0	1	0	0	0	3375	608	21	5	527	5	CHRFAM7A	15	30659622	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2195802	30659622	71871770	1285	51556											
CHRFAM7A	89832	broad.mit.edu	37	chr15	30659688	30659688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacgatcaccgtcaccaccAccgagaggcccacgatgatc	9	17	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:30659688A>G	uc001zdt.1	-	9	1219	c.653T>C	c.(652-654)GTG>GCG	p.V218A	DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Missense_Mutation_p.V127A|CHRFAM7A_uc010azn.2_Missense_Mutation_p.V127A	NM_139320	NP_647536	Q494W8	CRFM7_HUMAN	CHRNA7-FAM7A fusion isoform 1	218	Helical; (Potential).					integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity			skin(1)	1		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CGTCACCACCACCGAGAGGCC	0.632													G	30659688	A	G	30659688	3	3	74	1	0	0	0	0	1	0	0	0	3375	159	6	3	593	3	CHRFAM7A	15	30659688	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	66	30659688	71871704	1286	51557											
CHRFAM7A	89832	broad.mit.edu	37	chr15	30664463	30664463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagtagagcgtcctgcggCgcatggtcactgtgaaggtg	15	9	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:30664463C>T	uc001zdt.1	-	7	976	c.410G>A	c.(409-411)CGC>CAC	p.R137H	DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Missense_Mutation_p.R46H|CHRFAM7A_uc010azn.2_Missense_Mutation_p.R46H	NM_139320	NP_647536	Q494W8	CRFM7_HUMAN	CHRNA7-FAM7A fusion isoform 1	137						integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity			skin(1)	1		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CGTCCTGCGGCGCATGGTCAC	0.587													T	30664463	C	T	30664463	3	4	74	1	0	0	0	0	1	0	0	0	3375	768	27	1	844	1	CHRFAM7A	15	30664463	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	4775	30664463	71866929	1287	51558											
MTMR15	22909	broad.mit.edu	37	chr15	31210380	31210380	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccagatatgcagcagccAcgcacatgctgagtgacatt	9	13	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:31210380A>G	uc001zff.2	+	6	2116	c.1825A>G	c.(1825-1827)ACG>GCG	p.T609A	MTMR15_uc001zfe.2_Missense_Mutation_p.T214A	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	609					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		TGCAGCAGCCACGCACATGCT	0.468								Direct_reversal_of_damage|Editing_and_processing_nucleases					G	31210380	A	G	31210380	3	3	74	1	0	0	0	0	1	0	0	0	9943	159	6	3	1868	3	MTMR15	15	31210380	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	545917	31210380	71321012	1288	51559											
DISP2	85455	broad.mit.edu	37	chr15	40659686	40659686	+	Frame_Shift_Del	DEL	C	C	-													ctacctggaccggctggccaCcccctgggggcttgctgaca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:40659685_40659685AC>A	uc001zlk.1	+	7	1461	c.1372_1372AC>A	c.(1372-1374)accfs	p.T458fs		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	458					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCGGCTGGCCACCCCCTGGGG	0.612													-	40659686	C	-	40659686	7	5	74	1	0	1	0	1	0	0	0	0	4540	507	18	0	1403	0	DISP2	15	40659686	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	9449306	40659686	61871706	1289	51560											
DISP2	85455	broad.mit.edu	37	chr15	40661852	40661852	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccagctttgacaccagcaCagccaccagcaagctgtccc	7	19	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:40661852C>A	uc001zlk.1	+	8	3628	c.3539C>A	c.(3538-3540)ACA>AAA	p.T1180K		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	1180					smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GACACCAGCACAGCCACCAGC	0.657													A	40661852	C	A	40661852	3	1	74	1	0	0	0	0	1	0	0	0	4540	478	17	5	3569	5	DISP2	15	40661852	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2166	40661852	61869540	1290	51561											
BAHD1	22893	broad.mit.edu	37	chr15	40751414	40751414	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccgaggccaaagtggcccAaggtcaatggcaagaactat	11	12	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:40751414A>G	uc001zlu.2	+	2	822	c.751A>G	c.(751-753)AAG>GAG	p.K251E	BAHD1_uc001zlt.2_Missense_Mutation_p.K251E|BAHD1_uc010bbp.1_Missense_Mutation_p.K251E|BAHD1_uc001zlv.2_Missense_Mutation_p.K251E	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	251	Pro-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		AAAGTGGCCCAAGGTCAATGG	0.667													G	40751414	A	G	40751414	3	3	74	1	0	0	0	0	1	0	0	0	1297	131	5	3	753	3	BAHD1	15	40751414	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	89562	40751414	61779978	1291	51562											
RPUSD2	27079	broad.mit.edu	37	chr15	40865992	40865992	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaacgaccccatctacaaCtcagttgcctggggtccttc	7	16	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:40865992C>A	uc001zmd.1	+	3	1170	c.1170C>A	c.(1168-1170)AAC>AAA	p.N390K		NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing	390					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			skin(1)	1		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		CCATCTACAACTCAGTTGCCT	0.592													A	40865992	C	A	40865992	3	1	74	1	0	0	0	0	1	0	0	0	13667	564	20	5	1180	5	RPUSD2	15	40865992	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	114578	40865992	61665400	1292	51563											
CASC5	57082	broad.mit.edu	37	chr15	40915924	40915924	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaggcccatggacaaaacCgtattgttcacagataatta	7	8	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:40915924C>T	uc010bbs.1	+	11	3701	c.3540C>T	c.(3538-3540)ACC>ACT	p.T1180T	CASC5_uc010ucq.1_Silent_p.T1004T|CASC5_uc001zme.2_Silent_p.T1154T|CASC5_uc010bbt.1_Silent_p.T1154T	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	1180	2.|2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TGGACAAAACCGTATTGTTCA	0.418													T	40915924	C	T	40915924	2	4	74	1	0	0	0	0	0	0	0	1	2663	639	23	1		1	CASC5	15	40915924	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	49932	40915924	61615468	1293	51564											
ZFYVE19	84936	broad.mit.edu	37	chr15	41105091	41105091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgctgcggggacaggacCccgagagaggtgaaggctgg	18	10	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:41105091C>T	uc001zmt.1	+	7	1535	c.1021C>T	c.(1021-1023)CCC>TCC	p.P341S	ZFYVE19_uc001zmu.1_Intron|ZFYVE19_uc001zmv.1_Missense_Mutation_p.P166S|ZFYVE19_uc001zmw.1_Missense_Mutation_p.P166S|ZFYVE19_uc001zmx.1_Missense_Mutation_p.P166S|ZFYVE19_uc010bcc.1_Missense_Mutation_p.P166S	NM_001077268	NP_001070736	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	341	Potential.						zinc ion binding				0		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGGACAGGACCCCGAGAGAGG	0.637													T	41105091	C	T	41105091	3	4	74	1	0	0	0	0	1	0	0	0	17662	623	22	4	1047	4	ZFYVE19	15	41105091	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	189167	41105091	61426301	1294	51565											
ITPKA	3706	broad.mit.edu	37	chr15	41794294	41794294	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggatcctgaagctcccacGgaggaggagcacgcgcagcg	16	12	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:41794294G>A	uc001znz.2	+	4	914	c.903G>A	c.(901-903)ACG>ACA	p.T301T		NM_002220	NP_002211	P23677	IP3KA_HUMAN	1D-myo-inositol-trisphosphate 3-kinase A	301					signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity				0		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AAGCTCCCACGGAGGAGGAGC	0.642													A	41794294	G	A	41794294	2	1	74	1	0	0	0	0	0	0	0	1	7917	1103	39	1		1	ITPKA	15	41794294	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	689203	41794294	60737098	1295	51566											
MGA	23269	broad.mit.edu	37	chr15	42021442	42021442	+	Frame_Shift_Del	DEL	A	A	-													cgagttcgagtatatgagcgAaaaaaagaggaccagagaca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:42021441_42021441GA>G	uc010ucy.2	+	10	3918	c.3737_3737GA>G	c.(3736-3738)cgafs	p.R1246fs	MGA_uc010ucz.2_Frame_Shift_Del_p.R1246fs	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1246						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTATATGAGCGAAAAAAAGAG	0.408													-	42021442	A	-	42021442	7	5	74	1	0	1	0	1	0	0	0	0	9540	233	9	0	3776	0	MGA	15	42021442	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	227148	42021442	60509950	1296	51567											
PLA2G4F	255189	broad.mit.edu	37	chr15	42441943	42441943	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagcctcactcaatcccaGcacttgctgcagggccttgg	10	15	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:42441943G>T	uc001zoz.2	-	11	1090	c.1027C>A	c.(1027-1029)CTG>ATG	p.L343M	PLA2G4F_uc001zoy.2_5'Flank|PLA2G4F_uc010bcr.2_Missense_Mutation_p.L94M|PLA2G4F_uc001zpa.2_Missense_Mutation_p.L94M|PLA2G4F_uc010bcs.2_Missense_Mutation_p.L130M	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	343	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			ovary(4)	4		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTCAATCCCAGCACTTGCTGC	0.582													T	42441943	G	T	42441943	3	4	74	1	0	0	0	0	1	0	0	0	12006	962	34	5	1562	5	PLA2G4F	15	42441943	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	420501	42441943	60089449	1297	51568											
GANC	2595	broad.mit.edu	37	chr15	42632112	42632113	+	Splice_Site	INS	-	-	A													ttcccaacctgtcatgaggtINSaaaaaagcttcatccattca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:42632112_42632113insA	uc001zpi.2	+	17	2401	c.2087_splice	c.e17+2	p.R696_splice		NM_198141	NP_937784	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C						carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			central_nervous_system(2)	2		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TGTCATGAGGTAAAAAAGCTTC	0.45													A	42632113	-	A	42632112	8	5	74	1	0	1	1	0	0	0	1	0	6234	1652	57	0	2155	0	GANC	15	42632112	Splice_Site	INS	-	TCGA-BR-8361-01A-11D-2340-08	190169	42632112	59899280	1298	51569	212	2									
GANC	2595	broad.mit.edu	37	chr15	42632113	42632114	+	Splice_Site	INS	-	-	A													tcccaacctgtcatgaggtaINSaaaaagcttcatccattcag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:42632112_42632113T>TA	uc001zpi.3	+	17	2401	c.2087_splice	c.e17+2	p.R696_splice		NM_198141	NP_937784	Q8TET4	GANC_HUMAN	Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA.	696					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TGTCATGAGGTAAAAAAGCTTC	0.45													A	42632114	-	A	42632113	8	5	74	1	0	1	1	0	0	0	1	0	6234	377	13	0		0	GANC	15	42632113	Splice_Site	INS	-	TCGA-BR-8361-01A-11D-2340-08	1	42632113	59899279	1299	51570	212	2									
ZFP106	64397	broad.mit.edu	37	chr15	42743714	42743714	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccaattatttgtactacgTacactggatttccagtttcc	5	10	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:42743714T>C	uc001zpw.2	-	2	1022	c.687A>G	c.(685-687)GTA>GTG	p.V229V	ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Silent_p.V12V|ZFP106_uc001zpy.1_Silent_p.V252V	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	229						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TTGTACTACGTACACTGGATT	0.403													C	42743714	T	C	42743714	2	2	74	1	0	0	0	0	0	0	0	1	17634	1625	57	3		3	ZFP106	15	42743714	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	111601	42743714	59787678	1300	51571											
TGM5	9333	broad.mit.edu	37	chr15	43548790	43548790	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatagttccagggacatggGcggatccagttcttgctgcc	12	12	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:43548790G>T	uc001zrd.1	-	4	539	c.531C>A	c.(529-531)CGC>CGA	p.R177R	TGM5_uc001zre.1_Silent_p.R95R	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	177					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AGGGACATGGGCGGATCCAGT	0.557													T	43548790	G	T	43548790	2	4	74	1	0	0	0	0	0	0	0	1	15830	1190	42	5		5	TGM5	15	43548790	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	805076	43548790	58982602	1301	51572											
MAP1A	4130	broad.mit.edu	37	chr15	43814120	43814120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcttcctgatgcctcccGgaaagccaagcgtagcattg	12	13	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:43814120G>A	uc001zrt.2	+	4	916	c.449G>A	c.(448-450)CGG>CAG	p.R150Q		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	150						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GATGCCTCCCGGAAAGCCAAG	0.542													A	43814120	G	A	43814120	3	1	74	1	0	0	0	0	1	0	0	0	9227	1116	39	1	451	1	MAP1A	15	43814120	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	265330	43814120	58717272	1302	51573											
FRMD5	84978	broad.mit.edu	37	chr15	44166366	44166366	+	Frame_Shift_Del	DEL	C	C	-													gacacagggccctcagctctCccccaagggcctccacctct							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:44166366delC	uc001ztl.2	-	14	1607	c.1430delG	c.(1429-1431)GGAfs	p.G477fs	FRMD5_uc001ztj.1_Frame_Shift_Del_p.G150fs|FRMD5_uc001ztk.1_Frame_Shift_Del_p.G383fs|FRMD5_uc010uef.1_Frame_Shift_Del_p.G150fs|FRMD5_uc001ztm.2_Frame_Shift_Del_p.G150fs|FRMD5_uc001ztn.2_Frame_Shift_Del_p.G243fs	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5 isoform 2	477						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		CCTCAGCTCTCCCCCAAGGGC	0.577													-	44166366	C	-	44166366	7	5	74	1	0	1	0	1	0	0	0	0	6053	855	30	0	286	0	FRMD5	15	44166366	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	352246	44166366	58365026	1303	51574											
SPG11	80208	broad.mit.edu	37	chr15	44905698	44905699	+	Frame_Shift_Ins	INS	-	-	T													ggtgtgcttcatgtaactctINStttttttccaaaaagggaca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:44905697_44905698C>CT	uc001ztx.3	-	16	3106_3107	c.3075_3076G>AG	c.(3073-3078)aaagagfs	p.K1025fs	SPG11_uc010ueh.2_Frame_Shift_Ins_p.K1025fs|SPG11_uc010uei.2_Frame_Shift_Ins_p.K1025fs	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	1025					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCATGTAACTCTTTTTTTTCCA	0.327													T	44905699	-	T	44905698	7	5	74	1	0	1	1	0	0	0	0	0	15040	1606	56	0	4352	0	SPG11	15	44905698	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	739332	44905698	57625694	1304	51575											
SPG11	80208	broad.mit.edu	37	chr15	44907730	44907730	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttaggaggaagcattcaaAgtcttccagttcagatgcca	9	9	4	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:44907730A>C	uc001ztx.2	-	16	2900	c.2869T>G	c.(2869-2871)TTT>GTT	p.F957V	SPG11_uc010ueh.1_Missense_Mutation_p.F957V|SPG11_uc010uei.1_Missense_Mutation_p.F957V|SPG11_uc001ztz.1_Missense_Mutation_p.F116V	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	957	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AAGCATTCAAAGTCTTCCAGT	0.413													C	44907730	A	C	44907730	3	2	74	1	0	0	0	0	1	0	0	0	15040	72	3	5	4562	5	SPG11	15	44907730	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	2032	44907730	57623662	1305	51576											
DUOX1	53905	broad.mit.edu	37	chr15	45436333	45436333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaggctcaccgtgctccGcaccatccagctgcagcctc	10	18	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:45436333G>A	uc001zus.1	+	18	2382	c.2036G>A	c.(2035-2037)CGC>CAC	p.R679H	DUOX1_uc001zut.1_Missense_Mutation_p.R679H|DUOX1_uc010bee.1_Missense_Mutation_p.R59H	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	679	Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ACCGTGCTCCGCACCATCCAG	0.622													A	45436333	G	A	45436333	3	1	74	1	0	0	0	0	1	0	0	0	4800	1087	38	1	2098	1	DUOX1	15	45436333	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	528603	45436333	57095059	1306	51577											
MYEF2	50804	broad.mit.edu	37	chr15	48460873	48460873	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcttgccatttcatgtcatAtgggatgttgctaatgaaaa	9	6	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:48460873A>G	uc001zwi.3	-	2	449	c.325T>C	c.(325-327)TAT>CAT	p.Y109H	MYEF2_uc001zwj.3_Missense_Mutation_p.Y109H|MYEF2_uc001zwl.2_5'UTR	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	109	RRM 1.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TTCATGTCATATGGGATGTTG	0.393													G	48460873	A	G	48460873	3	3	74	1	0	0	0	0	1	0	0	0	10024	449	16	3	1541	3	MYEF2	15	48460873	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	3024540	48460873	54070519	1307	51578											
FBN1	2200	broad.mit.edu	37	chr15	48797303	48797303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcagtgttgacgcaacGcccattcatgcagatcccag	9	14	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:48797303G>A	uc001zwx.1	-	16	2207	c.1879C>T	c.(1879-1881)CGT>TGT	p.R627C		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	627	EGF-like 10; calcium-binding.		R -> C (in MFS; enhances proteolytic degradation).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTGACGCAACGCCCATTCATG	0.448													A	48797303	G	A	48797303	3	1	74	1	0	0	0	0	1	0	0	0	5702	1087	38	1	6940	1	FBN1	15	48797303	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	336430	48797303	53734089	1308	51579											
DMXL2	23312	broad.mit.edu	37	chr15	51860757	51860757	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taccatatgaagctgcaatcTaaaaaagaataaatacagca	5	7	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:51860757T>A	uc002abf.2	-	3	439	c.214_splice	c.e3-1	p.I72_splice	DMXL2_uc010ufy.1_Splice_Site_p.I72_splice|DMXL2_uc010bfa.2_Splice_Site_p.I72_splice|DMXL2_uc002abg.2_Intron	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		AGCTGCAATCTAAAAAAGAAT	0.254													A	51860757	T	A	51860757	5	1	74	1	0	0	0	0	0	0	1	0	4595	1536	53	5	9065	5	DMXL2	15	51860757	Splice_Site	SNP	T	TCGA-BR-8361-01A-11D-2340-08	3063454	51860757	50670635	1309	51580											
SCG3	29106	broad.mit.edu	37	chr15	52005589	52005589	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgaatggttgaagaaacatGacaaaaagggaaataaagaa	10	2	0	5			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:52005589G>A	uc002abh.2	+	11	1675	c.1267G>A	c.(1267-1269)GAC>AAC	p.D423N	SCG3_uc010ufz.1_Missense_Mutation_p.D191N	NM_013243	NP_037375	Q8WXD2	SCG3_HUMAN	secretogranin III isoform 1 precursor	423					platelet activation|platelet degranulation	extracellular region|stored secretory granule				ovary(1)	1				all cancers(107;0.00488)		GAAGAAACATGACAAAAAGGG	0.368													A	52005589	G	A	52005589	3	1	74	1	0	0	0	0	1	0	0	0	13892	1290	45	4	1309	4	SCG3	15	52005589	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	144832	52005589	50525803	1310	51581											
LEO1	123169	broad.mit.edu	37	chr15	52254643	52254643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgcaatcgcattcttgcGtttcattcgtaaaacttcat	6	9	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:52254643G>A	uc002abo.2	-	3	878	c.862C>T	c.(862-864)CGC>TGC	p.R288C	LEO1_uc010bfd.2_Missense_Mutation_p.R288C	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component,	288	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding				0				all cancers(107;0.00264)		GCATTCTTGCGTTTCATTCGT	0.358													A	52254643	G	A	52254643	3	1	74	1	0	0	0	0	1	0	0	0	8726	1145	40	1	1178	1	LEO1	15	52254643	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	249054	52254643	50276749	1311	51582											
ONECUT1	3175	broad.mit.edu	37	chr15	53081395	53081395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtgaggtgctgctccccGtggcggccgagcatggccgg	19	13	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:53081395G>A	uc002aci.1	-	1	815	c.687C>T	c.(685-687)CAC>CAT	p.H229H		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	229					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)		GCTGCTCCCCGTGGCGGCCGA	0.726													A	53081395	G	A	53081395	2	1	74	1	0	0	0	0	0	0	0	1	10868	1136	40	1		1	ONECUT1	15	53081395	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	826752	53081395	49449997	1312	51583											
NEDD4	4734	broad.mit.edu	37	chr15	56122114	56122114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaatcaactccatcaaagCcctgggtgttttcaattgcc	6	12	4	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:56122114C>T	uc002adj.2	-	25	4241	c.3941G>A	c.(3940-3942)GGC>GAC	p.G1314D	NEDD4_uc002adl.2_Missense_Mutation_p.G895D|NEDD4_uc002adi.2_Missense_Mutation_p.G1242D|NEDD4_uc010ugj.1_Missense_Mutation_p.G1298D|NEDD4_uc010bfm.2_Missense_Mutation_p.G1297D|NEDD4_uc002adk.2_RNA	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	1314	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TCCATCAAAGCCCTGGGTGTT	0.358													T	56122114	C	T	56122114	3	4	74	1	0	0	0	0	1	0	0	0	10310	739	26	2	22	2	NEDD4	15	56122114	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3040719	56122114	46409278	1313	51584											
MYO1E	4643	broad.mit.edu	37	chr15	59506895	59506895	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgttgtattcttcatggtCtttctccatggctttattga	7	7	4	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:59506895C>T	uc002aga.2	-	11	1504	c.1132G>A	c.(1132-1134)GAC>AAC	p.D378N		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	378	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)		TCTTCATGGTCTTTCTCCATG	0.428													T	59506895	C	T	59506895	3	4	74	1	0	0	0	0	1	0	0	0	10072	913	32	4	2266	4	MYO1E	15	59506895	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3384781	59506895	43024497	1314	51585											
CA12	771	broad.mit.edu	37	chr15	63632625	63632625	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcttcaatgttgaatccCgggacgaatgcttcctggcc	10	12	2	1	rs139249118		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:63632625C>T	uc002amc.2	-	7	765	c.609G>A	c.(607-609)CCG>CCA	p.P203P	CA12_uc002amd.2_Silent_p.P203P|CA12_uc002ame.2_Silent_p.P143P	NM_001218	NP_001209	O43570	CAH12_HUMAN	carbonic anhydrase XII isoform 1 precursor	203	Extracellular (Potential).				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			ovary(1)	1					Acetazolamide(DB00819)	TGTTGAATCCCGGGACGAATG	0.572													T	63632625	C	T	63632625	2	4	74	1	0	0	0	0	0	0	0	1	2513	639	23	1		1	CA12	15	63632625	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	4125730	63632625	38898767	1315	51586											
HERC1	8925	broad.mit.edu	37	chr15	63947967	63947967	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcaacttctgacttatcaTagttaggtcttagtttggcc	7	8	4	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:63947967T>C	uc002amp.2	-	50	10206	c.10058A>G	c.(10057-10059)TAT>TGT	p.Y3353C		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3353					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TGACTTATCATAGTTAGGTCT	0.363													C	63947967	T	C	63947967	3	2	74	1	0	0	0	0	1	0	0	0	7057	1406	49	3	4643	3	HERC1	15	63947967	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	315342	63947967	38583425	1316	51587											
HERC1	8925	broad.mit.edu	37	chr15	64005666	64005666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactcctaatattaacaggGcacaccgatggatcacggag	9	10	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:64005666G>A	uc002amp.2	-	23	4497	c.4349C>T	c.(4348-4350)GCC>GTC	p.A1450V	HERC1_uc010uil.1_Missense_Mutation_p.A434V	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	1450					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TATTAACAGGGCACACCGATG	0.517													A	64005666	G	A	64005666	3	1	74	1	0	0	0	0	1	0	0	0	7057	1203	42	2	10460	2	HERC1	15	64005666	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	57699	64005666	38525726	1317	51588											
CSNK1G1	53944	broad.mit.edu	37	chr15	64497118	64497118	+	Frame_Shift_Del	DEL	T	T	-													attccttttggtgtcaccaaTtttttgatatctctctttta							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:64497117_64497117AT>A	uc002anf.3	-	7	1277	c.797_797AT>T	c.(796-798)attfs	p.I266fs	CSNK1G1_uc002ane.3_Non-coding_Transcript|CSNK1G1_uc002ang.1_Frame_Shift_Del_p.I266fs|CSNK1G1_uc002anh.1_Frame_Shift_Del_p.I266fs|CSNK1G1_uc002anj.3_Frame_Shift_Del_p.I248fs	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	Homo sapiens casein kinase 1, gamma 1 (CSNK1G1), mRNA.	266	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						GGTGTCACCAATTTTTTGATA	0.383													-	64497118	T	-	64497118	7	5	74	1	0	1	0	1	0	0	0	0	3954	1493	52	0	492	0	CSNK1G1	15	64497118	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	491452	64497118	38034274	1318	51589											
RAB11A	8766	broad.mit.edu	37	chr15	66169844	66169844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggacacagcagggcaagagcGatatcgagctataacatcag	12	9	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:66169844G>A	uc002apk.2	+	2	343	c.215G>A	c.(214-216)CGA>CAA	p.R72Q	RAB11A_uc010ujk.1_Missense_Mutation_p.R72Q	NM_004663	NP_004654	P62491	RB11A_HUMAN	Ras-related protein Rab-11A	72					cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding				0						GGGCAAGAGCGATATCGAGCT	0.418													A	66169844	G	A	66169844	3	1	74	1	0	0	0	0	1	0	0	0	12891	1058	37	1	221	1	RAB11A	15	66169844	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1672726	66169844	36361548	1319	51590											
MEGF11	84465	broad.mit.edu	37	chr15	66206166	66206166	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttctctttctgccgccgCcgatgccaggcaaataggcc	9	17	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:66206166C>T	uc002apm.2	-	20	2760	c.2619G>A	c.(2617-2619)CGG>CGA	p.R873R	MEGF11_uc002apl.2_Silent_p.R798R|MEGF11_uc002apn.1_Silent_p.R873R	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11 precursor	873						basolateral plasma membrane|integral to membrane				pancreas(1)	1						TCTGCCGCCGCCGATGCCAGG	0.612													T	66206166	C	T	66206166	2	4	74	1	0	0	0	0	0	0	0	1	9461	726	26	2		2	MEGF11	15	66206166	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	36322	66206166	36325226	1320	51591											
PIAS1	8554	broad.mit.edu	37	chr15	68438921	68438921	+	Frame_Shift_Del	DEL	A	A	-													tagggttaccttccacctacAaaaaatggcgtggaaccaaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:68438920_68438920CA>C	uc002aqz.3	+	5	803	c.710_710CA>C	c.(709-711)acafs	p.T237fs	PIAS1_uc010ujx.2_Frame_Shift_Del_p.T237fs	NM_016166	NP_057250	O75925	PIAS1_HUMAN	Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA.	237	PINIT.				JAK-STAT cascade|androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|enzyme binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						CTTCCACCTACAAAAAATGGC	0.378													-	68438921	A	-	68438921	7	5	74	1	0	1	0	1	0	0	0	0	11875	117	5	0	733	0	PIAS1	15	68438921	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	2232755	68438921	34092471	1321	51592											
NOX5	79400	broad.mit.edu	37	chr15	69339850	69339850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcggcatcaccccctttgCttccattctgcagagtatca	6	15	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:69339850C>T	uc002ars.1	+	12	1810	c.1790C>T	c.(1789-1791)GCT>GTT	p.A597V	NOX5_uc002arp.1_Missense_Mutation_p.A579V|NOX5_uc002arq.1_Missense_Mutation_p.A551V|NOX5_uc010bid.1_Missense_Mutation_p.A562V|NOX5_uc002arr.1_Missense_Mutation_p.A569V|NOX5_uc010bie.1_Missense_Mutation_p.A397V|NOX5_uc010bif.1_RNA	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	597	Helical; (Potential).				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(1)|pancreas(1)	2						ACCCCCTTTGCTTCCATTCTG	0.537													T	69339850	C	T	69339850	3	4	74	1	0	0	0	0	1	0	0	0	10559	797	28	2	1869	2	NOX5	15	69339850	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	900929	69339850	33191542	1322	51593											
GLCE	26035	broad.mit.edu	37	chr15	69548303	69548303	+	Frame_Shift_Del	DEL	A	A	-													cttcagagtggatgggtttgAaaaaagagcagcagcatctg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:69548302_69548302GA>G	uc002ary.1	+	2	385	c.157_157GA>G	c.(157-159)gaafs	p.E53fs		NM_015554	NP_056369	O94923	GLCE_HUMAN	Homo sapiens glucuronic acid epimerase (GLCE), mRNA.	53					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						GGATGGGTTTGAAAAAAGAGC	0.473													-	69548303	A	-	69548303	7	5	74	1	0	1	0	1	0	0	0	0	6432	246	9	0	160	0	GLCE	15	69548303	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	208453	69548303	32983089	1323	51594											
GLCE	26035	broad.mit.edu	37	chr15	69561312	69561312	+	Frame_Shift_Del	DEL	A	A	-													cttaaaagaaactgcaggggAaaaactcggaaaagaagcaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:69561311_69561311GA>G	uc002ary.1	+	4	1810	c.1582_1582GA>G	c.(1582-1584)gaafs	p.E528fs		NM_015554	NP_056369	O94923	GLCE_HUMAN	Homo sapiens glucuronic acid epimerase (GLCE), mRNA.	528					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	p.E528G(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						AACTGCAGGGGAAAAACTCGG	0.413													-	69561312	A	-	69561312	7	5	74	1	0	1	0	1	0	0	0	0	6432	246	9	0	1593	0	GLCE	15	69561312	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	13009	69561312	32970080	1324	51595											
MYO9A	4649	broad.mit.edu	37	chr15	72190441	72190441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatctgatcttttcctgagCagtgataccttctagtttcc	6	11	3	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:72190441C>T	uc002atl.3	-	25	4876	c.4403G>A	c.(4402-4404)TGC>TAC	p.C1468Y	MYO9A_uc010biq.2_Missense_Mutation_p.C1088Y|MYO9A_uc002atn.1_Missense_Mutation_p.C1449Y|MYO9A_uc002atk.2_Missense_Mutation_p.C192Y|MYO9A_uc002atm.1_Missense_Mutation_p.C192Y	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1468	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						TTTTCCTGAGCAGTGATACCT	0.388													T	72190441	C	T	72190441	3	4	74	1	0	0	0	0	1	0	0	0	10084	710	25	2	3315	2	MYO9A	15	72190441	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2629129	72190441	30340951	1325	51596											
SENP8	123228	broad.mit.edu	37	chr15	72432053	72432053	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaagctggctcaatgaccAtattattgggtttgcgtttg	11	8	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:72432053A>G	uc002atp.2	+	2	188	c.89A>G	c.(88-90)CAT>CGT	p.H30R		NM_145204	NP_660205	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	30	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			ovary(1)|skin(1)	2						CTCAATGACCATATTATTGGG	0.473													G	72432053	A	G	72432053	3	3	74	1	0	0	0	0	1	0	0	0	14052	217	8	3	91	3	SENP8	15	72432053	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	241612	72432053	30099339	1326	51597											
CELF6	60677	broad.mit.edu	37	chr15	72612004	72612004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccgtcagctcgtagatgCggccgaactcctcgaacagc	11	15	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:72612004C>T	uc002auh.2	-	1	522	c.212G>A	c.(211-213)CGC>CAC	p.R71H	uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010ukm.1_Missense_Mutation_p.R71H|CELF6_uc002aui.2_Silent_p.P193P|CELF6_uc002auj.2_5'UTR	NM_052840	NP_443072	Q96J87	CELF6_HUMAN	bruno-like 6, RNA binding protein	71	RRM 1.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3						CTCGTAGATGCGGCCGAACTC	0.562													T	72612004	C	T	72612004	3	4	74	1	0	0	0	0	1	0	0	0	3220	768	27	1	1281	1	CELF6	15	72612004	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	179951	72612004	29919388	1327	51598											
ARIH1	25820	broad.mit.edu	37	chr15	72875617	72875617	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgaaaaagatctgtgggAgtacattgaggactgagaat	12	4	1	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:72875617A>G	uc002aut.3	+	14	1972	c.1658A>G	c.(1657-1659)GAG>GGG	p.E553G		NM_005744	NP_005735	Q9Y4X5	ARI1_HUMAN	ariadne ubiquitin-conjugating enzyme E2 binding	553					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding				0						GATCTGTGGGAGTACATTGAG	0.368													G	72875617	A	G	72875617	3	3	74	1	0	0	0	0	1	0	0	0	923	304	11	3	1712	3	ARIH1	15	72875617	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	263613	72875617	29655775	1328	51599											
NPTN	27020	broad.mit.edu	37	chr15	73862645	73862645	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaggcggagccaatggcGttggtggcattacattcata	13	8	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:73862645G>A	uc002avs.2	-	6	1157	c.960C>T	c.(958-960)AAC>AAT	p.N320N	NPTN_uc010bjc.2_Silent_p.N320N|NPTN_uc002avt.2_Silent_p.N204N|NPTN_uc002avr.2_Silent_p.N204N|NPTN_uc010ula.1_Silent_p.N115N	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	neuroplastin isoform b precursor	320	Ig-like 3.|Extracellular (Potential).				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding				0						AGCCAATGGCGTTGGTGGCAT	0.512													A	73862645	G	A	73862645	2	1	74	1	0	0	0	0	0	0	0	1	10601	1136	40	1		1	NPTN	15	73862645	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	987028	73862645	28668747	1329	51600											
CD276	80381	broad.mit.edu	37	chr15	73991987	73991987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctcacaggaagatgctgCgtcggcggggcagccctggc	16	14	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:73991987C>T	uc002avv.1	+	2	241	c.7C>T	c.(7-9)CGT>TGT	p.R3C	CD276_uc010bjd.1_Intron|CD276_uc002avu.1_Missense_Mutation_p.R3C|CD276_uc002avw.1_Missense_Mutation_p.R3C|CD276_uc010ulb.1_5'UTR	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	CD276 antigen isoform a	3					cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			skin(1)	1						GAAGATGCTGCGTCGGCGGGG	0.652													T	73991987	C	T	73991987	3	4	74	1	0	0	0	0	1	0	0	0	2992	768	27	1	9	1	CD276	15	73991987	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	129342	73991987	28539405	1330	51601											
PML	5371	broad.mit.edu	37	chr15	74315664	74315664	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccaggaggagccccagagCctgcaagctgccgtgcgcac	14	16	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:74315664C>A	uc002awv.2	+	3	1238	c.1098C>A	c.(1096-1098)AGC>AGA	p.S366R	PML_uc002awm.2_Missense_Mutation_p.S366R|PML_uc002awl.2_Missense_Mutation_p.S366R|PML_uc002awj.1_Missense_Mutation_p.S366R|PML_uc002awk.2_Missense_Mutation_p.S366R|PML_uc002awn.2_Missense_Mutation_p.S366R|PML_uc002awo.2_Missense_Mutation_p.S366R|PML_uc002awp.2_Missense_Mutation_p.S366R|PML_uc002awq.2_Missense_Mutation_p.S366R|PML_uc002awr.2_Missense_Mutation_p.S366R|PML_uc002aws.2_Missense_Mutation_p.S366R|PML_uc002awt.2_Missense_Mutation_p.S366R|PML_uc002awu.2_Missense_Mutation_p.S366R|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.S281R|PML_uc002awx.2_Missense_Mutation_p.S124R|PML_uc002awy.2_5'Flank	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	366					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						AGCCCCAGAGCCTGCAAGCTG	0.652			T	RARA|PAX5	APL|ALL								A	74315664	C	A	74315664	3	1	74	1	0	0	0	0	1	0	0	0	12135	738	26	5	1108	5	PML	15	74315664	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	323677	74315664	28215728	1331	51602											
ISLR2	57611	broad.mit.edu	37	chr15	74425529	74425529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccgggacgcactcggtgCgctacccgacctgcgttccc	12	19	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:74425529C>T	uc002axd.2	+	4	1203	c.434C>T	c.(433-435)GCG>GTG	p.A145V	ISLR2_uc002axe.2_Missense_Mutation_p.A145V|ISLR2_uc010bjg.2_Missense_Mutation_p.A145V|ISLR2_uc010bjf.2_Missense_Mutation_p.A145V	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	145	LRR 4.|Extracellular (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						GCACTCGGTGCGCTACCCGAC	0.647													T	74425529	C	T	74425529	3	4	74	1	0	0	0	0	1	0	0	0	7859	768	27	1	436	1	ISLR2	15	74425529	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	109865	74425529	28105863	1332	51603											
ISLR2	57611	broad.mit.edu	37	chr15	74425935	74425935	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagatccccggtggcacCgtagtcttagagccaccggt	11	14	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:74425935C>T	uc002axd.2	+	4	1609	c.840C>T	c.(838-840)ACC>ACT	p.T280T	ISLR2_uc002axe.2_Silent_p.T280T|ISLR2_uc010bjg.2_Silent_p.T280T|ISLR2_uc010bjf.2_Silent_p.T280T	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	280	Ig-like.|Extracellular (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						CCGGTGGCACCGTAGTCTTAG	0.463													T	74425935	C	T	74425935	2	4	74	1	0	0	0	0	0	0	0	1	7859	639	23	1		1	ISLR2	15	74425935	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	406	74425935	28105457	1333	51604											
SEMA7A	8482	broad.mit.edu	37	chr15	74703284	74703284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggcagctcaggtagtagCgagagtttggggccagggaa	19	6	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:74703284C>T	uc002axv.2	-	14	1722	c.1682G>A	c.(1681-1683)CGC>CAC	p.R561H	SEMA7A_uc010ulk.1_Missense_Mutation_p.R396H|SEMA7A_uc010ull.1_Missense_Mutation_p.R547H	NM_003612	NP_003603	O75326	SEM7A_HUMAN	semaphorin 7A isoform 1 preproprotein	561	Ig-like C2-type.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(1)|central_nervous_system(1)	2						CAGGTAGTAGCGAGAGTTTGG	0.632													T	74703284	C	T	74703284	3	4	74	1	0	0	0	0	1	0	0	0	14043	768	27	1	322	1	SEMA7A	15	74703284	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	277349	74703284	27828108	1334	51605											
UBL7	84993	broad.mit.edu	37	chr15	74749015	74749015	+	Splice_Site	DEL	A	A	-													gaccacagtagatcagatctAaaaaaagaactgtccactta							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:74749014_74749014TA>T	uc002axw.1	-	3	347	c.185_splice	c.e3-1	p.D62_splice	UBL7_uc002axx.1_Splice_Site_p.D102_splice|UBL7_uc002axy.1_Splice_Site_p.D62_splice|UBL7_uc002axz.1_Splice_Site_p.D62_splice	NM_032907	NP_957717	Q96S82	UBL7_HUMAN	Homo sapiens ubiquitin-like 7 (bone marrow stromal cell-derived) (UBL7), transcript variant 1, mRNA.	62	Ubiquitin-like.						protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						AGATCAGATCTAAAAAAAGAA	0.403													-	74749015	A	-	74749015	8	5	74	1	0	1	0	1	0	0	1	0	16887	377	13	0		0	UBL7	15	74749015	Splice_Site	DEL	A	TCGA-BR-8361-01A-11D-2340-08	45731	74749015	27782377	1335	51606											
CYP1A1	1543	broad.mit.edu	37	chr15	75013639	75013639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgtcagagagccggggcCgccgtgacctgccaatcact	12	14	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:75013639C>T	uc002ayp.3	-	5	1189	c.1067G>A	c.(1066-1068)CGG>CAG	p.R356Q	CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.R92Q|CYP1A1_uc010bjx.2_Missense_Mutation_p.R92Q|CYP1A1_uc002ayq.3_Missense_Mutation_p.R356Q|CYP1A1_uc010bjy.2_Missense_Mutation_p.R356Q|CYP1A1_uc010bjz.1_Missense_Mutation_p.R92Q	NM_000499	NP_000490	P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A,	356					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			ovary(2)|breast(2)|pancreas(1)	5					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GAGCCGGGGCCGCCGTGACCT	0.602									Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia				T	75013639	C	T	75013639	3	4	74	1	0	0	0	0	1	0	0	0	4149	652	23	1	483	1	CYP1A1	15	75013639	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	264624	75013639	27517753	1336	51607											
SCAMP5	192683	broad.mit.edu	37	chr15	75310770	75310770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgcagcggctggattgCtaccatctccttcttcggaa	9	13	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:75310770C>T	uc002azk.1	+	6	569	c.407C>T	c.(406-408)GCT>GTT	p.A136V	SCAMP5_uc002azl.1_Missense_Mutation_p.A136V|SCAMP5_uc002azm.1_Missense_Mutation_p.A136V|SCAMP5_uc002azn.1_Missense_Mutation_p.A144V|SCAMP5_uc010uly.1_Missense_Mutation_p.A65V	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	136	Extracellular (Potential).				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			ovary(1)	1						GGCTGGATTGCTACCATCTCC	0.587													T	75310770	C	T	75310770	3	4	74	1	0	0	0	0	1	0	0	0	13874	797	28	2	425	2	SCAMP5	15	75310770	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	297131	75310770	27220622	1337	51608											
MAN2C1	4123	broad.mit.edu	37	chr15	75651973	75651973	+	Frame_Shift_Del	DEL	C	C	-													gctcgtacctaggctgtgggCcccgcccggtttgggcaggg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:75651973delC	uc002baf.2	-	16	1953	c.1936delG	c.(1936-1938)GCCfs	p.A646fs	MAN2C1_uc002bag.2_Frame_Shift_Del_p.A646fs|MAN2C1_uc002bah.2_Frame_Shift_Del_p.A646fs|MAN2C1_uc010bkk.2_Frame_Shift_Del_p.A547fs|MAN2C1_uc010umi.1_Frame_Shift_Del_p.A428fs	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	646					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						AGGCTGTGGGCCCCGCCCGGT	0.642													-	75651973	C	-	75651973	7	5	74	1	0	1	0	1	0	0	0	0	9218	739	26	0	1230	0	MAN2C1	15	75651973	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	341203	75651973	26879419	1338	51609											
CSPG4	1464	broad.mit.edu	37	chr15	75980437	75980437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccactgctctcgccctggCgggtagcaacaaatgggata	11	13	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:75980437C>T	uc002baw.2	-	3	3062	c.2969G>A	c.(2968-2970)CGC>CAC	p.R990H		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	990	Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						CTCGCCCTGGCGGGTAGCAAC	0.587													T	75980437	C	T	75980437	3	4	74	1	0	0	0	0	1	0	0	0	3960	768	27	1	4031	1	CSPG4	15	75980437	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	328464	75980437	26550955	1339	51610											
ISL2	64843	broad.mit.edu	37	chr15	76634139	76634139	+	Frame_Shift_Del	DEL	C	C	-													gtcctcgcagctcccggacaCccccaacagtatggtgccga							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:76634138_76634138AC>A	uc002bbw.1	+	5	1120	c.1042_1042AC>A	c.(1042-1044)accfs	p.T348fs	ISL2_uc021sqw.1_Non-coding_Transcript	NM_145805	NP_665804	Q96A47	ISL2_HUMAN	Homo sapiens ISL LIM homeobox 2 (ISL2), mRNA.	348						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						GCTCCCGGACACCCCCAACAG	0.687													-	76634139	C	-	76634139	7	5	74	1	0	1	0	1	0	0	0	0	7857	507	18	0	1065	0	ISL2	15	76634139	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	653702	76634139	25897253	1340	51611											
TBC1D2B	23102	broad.mit.edu	37	chr15	78316783	78316783	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccttttggtgcagaagctcGagcgtgtcctttgggacccc	12	12	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:78316783G>A	uc002bcy.3	-	6	1185	c.1185C>T	c.(1183-1185)CTC>CTT	p.L395L	TBC1D2B_uc010bla.2_Silent_p.L395L	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B isoform a	395	Potential.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)|large_intestine(1)|breast(1)	3						GCAGAAGCTCGAGCGTGTCCT	0.547													A	78316783	G	A	78316783	2	1	74	1	0	0	0	0	0	0	0	1	15616	1045	37	1		1	TBC1D2B	15	78316783	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1682644	78316783	24214609	1341	51612											
IDH3A	3419	broad.mit.edu	37	chr15	78453996	78453996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaaaacatttgacctttaCgcgaatgtccgaccatgtgt	8	11	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:78453996C>T	uc002bdd.2	+	5	390	c.363C>T	c.(361-363)TAC>TAT	p.Y121Y	IDH3A_uc010umt.1_Intron|IDH3A_uc010umu.1_Silent_p.Y12Y|IDH3A_uc002bde.2_Silent_p.Y71Y|IDH3A_uc010umv.1_Silent_p.Y71Y|IDH3A_uc002bdf.2_Translation_Start_Site|IDH3A_uc002bdg.2_Silent_p.Y34Y	NM_005530	NP_005521	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	121					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)	TTGACCTTTACGCGAATGTCC	0.443													T	78453996	C	T	78453996	2	4	74	1	0	0	0	0	0	0	0	1	7496	547	19	1		1	IDH3A	15	78453996	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	137213	78453996	24077396	1342	51613											
ACSBG1	23205	broad.mit.edu	37	chr15	78473158	78473158	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccacagcagcatctttcGccggatgaagccagactgag	12	13	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:78473158G>A	uc002bdh.2	-	9	1248	c.1192C>T	c.(1192-1194)CGA>TGA	p.R398*	ACSBG1_uc010umw.1_Nonsense_Mutation_p.R394*|ACSBG1_uc010umx.1_Nonsense_Mutation_p.R156*|ACSBG1_uc010umy.1_Nonsense_Mutation_p.R291*	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	lipidosin	398					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			ovary(1)	1						AGCATCTTTCGCCGGATGAAG	0.657													A	78473158	G	A	78473158	4	1	74	1	0	0	0	0	0	1	0	0	173	1095	38	1	1006	1	ACSBG1	15	78473158	Nonsense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	19162	78473158	24058234	1343	51614											
IREB2	3658	broad.mit.edu	37	chr15	78732212	78732212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgatgtatctaaacttgGcaccaagtatggtaatgttg	9	7	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:78732212G>A	uc002bdr.2	+	2	257	c.95G>A	c.(94-96)GGC>GAC	p.G32D	IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.2_Missense_Mutation_p.G32D	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	32							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TCTAAACTTGGCACCAAGTAT	0.303													A	78732212	G	A	78732212	3	1	74	1	0	0	0	0	1	0	0	0	7826	1203	42	2	101	2	IREB2	15	78732212	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	259054	78732212	23799180	1344	51615											
CHRNB4	1143	broad.mit.edu	37	chr15	78921669	78921669	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccagggtgccatggtgtgGgtgctgggcgagcggtggtg	21	8	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:78921669G>T	uc002bed.1	-	5	1090	c.978C>A	c.(976-978)ACC>ACA	p.T326T	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Silent_p.T144T	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	326	Cytoplasmic (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						CCATGGTGTGGGTGCTGGGCG	0.617													T	78921669	G	T	78921669	2	4	74	1	0	0	0	0	0	0	0	1	3393	1219	43	5		5	CHRNB4	15	78921669	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	189457	78921669	23609723	1345	51616											
ADAMTS7	11173	broad.mit.edu	37	chr15	79063618	79063618	+	Frame_Shift_Del	DEL	C	C	-													gatggtgtactcgtagtgcaCcccagggttgctctcctgga							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:79063618delC	uc002bej.3	-	16	2615	c.2404delG	c.(2404-2406)GTGfs	p.V802fs	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	802	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						TCGTAGTGCACCCCAGGGTTG	0.637													-	79063618	C	-	79063618	7	5	74	1	0	1	0	1	0	0	0	0	271	507	18	0	2692	0	ADAMTS7	15	79063618	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	141949	79063618	23467774	1346	51617											
RASGRF1	5923	broad.mit.edu	37	chr15	79317734	79317734	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaggaagcactgtcgctcGccctctttctttagggagag	11	11	2	1	rs113957070		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:79317734G>A	uc002beq.2	-	10	1839	c.1464C>T	c.(1462-1464)GGC>GGT	p.G488G	RASGRF1_uc002bep.2_Silent_p.G488G|RASGRF1_uc010blm.1_Silent_p.G410G|RASGRF1_uc002ber.3_Silent_p.G488G	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	488	PH 2.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						ACTGTCGCTCGCCCTCTTTCT	0.557													A	79317734	G	A	79317734	2	1	74	1	0	0	0	0	0	0	0	1	13072	1074	38	1		1	RASGRF1	15	79317734	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	254116	79317734	23213658	1347	51618											
KIAA1024	23251	broad.mit.edu	37	chr15	79749908	79749908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagctcagacaccagtagCgtgggcacccagactgagca	11	14	2	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:79749908C>T	uc002bew.1	+	2	1494	c.1419C>T	c.(1417-1419)AGC>AGT	p.S473S	KIAA1024_uc010unk.1_Silent_p.S473S	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	473						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						ACACCAGTAGCGTGGGCACCC	0.532													T	79749908	C	T	79749908	2	4	74	1	0	0	0	0	0	0	0	1	8205	767	27	1		1	KIAA1024	15	79749908	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	432174	79749908	22781484	1348	51619											
STARD5	80765	broad.mit.edu	37	chr15	81611720	81611720	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcatatctcttgactagCaccaagtccacaaaatctct	3	14	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:81611720C>T	uc002bgm.2	-	4	444	c.360G>A	c.(358-360)GTG>GTA	p.V120V	STARD5_uc002bgn.2_Silent_p.V13V	NM_181900	NP_871629	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer protein 5	120	START.				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding			ovary(1)	1						TCTTGACTAGCACCAAGTCCA	0.517													T	81611720	C	T	81611720	2	4	74	1	0	0	0	0	0	0	0	1	15259	697	25	2		2	STARD5	15	81611720	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1861812	81611720	20919672	1349	51620											
AP3B2	8120	broad.mit.edu	37	chr15	83332340	83332340	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatcaagcagggagatctcCttggttgcaggagcactttt	12	8	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:83332340C>A	uc010uoh.1	-	20	2589	c.2412G>T	c.(2410-2412)AAG>AAT	p.K804N	AP3B2_uc010uoi.1_Missense_Mutation_p.K823N|AP3B2_uc010uoj.1_Missense_Mutation_p.K772N|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.K440N|AP3B2_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	804					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGGAGATCTCCTTGGTTGCAG	0.527													A	83332340	C	A	83332340	3	1	74	1	0	0	0	0	1	0	0	0	745	680	24	5	864	5	AP3B2	15	83332340	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1720620	83332340	19199052	1350	51621											
SH3GL3	6457	broad.mit.edu	37	chr15	84241367	84241368	+	Frame_Shift_Ins	INS	-	-	A													gaagctaatggctgaggtgaINSaagactctcttgatattaat							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:84241366_84241367G>GA	uc002bjw.3	+	4	576_577	c.381_382G>GA	c.(379-384)gtgaaafs	p.V127fs	SH3GL3_uc010uot.1_Frame_Shift_Ins_p.V127fs|SH3GL3_uc002bjx.3_Frame_Shift_Ins_p.V58fs|SH3GL3_uc002bju.3_Frame_Shift_Ins_p.V135fs|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	127	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TGGCTGAGGTGAAAGACTCTCT	0.361													A	84241368	-	A	84241367	7	5	74	1	0	1	1	0	0	0	0	0	14252	247	9	0	400	0	SH3GL3	15	84241367	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	909027	84241367	18290025	1351	51622											
AKAP13	11214	broad.mit.edu	37	chr15	86198866	86198866	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgagcctgctgacccaggCgacgtggaggaggaggagat	18	8	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:86198866C>T	uc002blv.1	+	11	4763	c.4593C>T	c.(4591-4593)GGC>GGT	p.G1531G	AKAP13_uc002blt.1_Silent_p.G1531G|AKAP13_uc002blu.1_Silent_p.G1531G|AKAP13_uc010bnf.1_Silent_p.G171G|AKAP13_uc002blw.1_Silent_p.G16G|AKAP13_uc010bne.1_Silent_p.G184G	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	1531					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						CTGACCCAGGCGACGTGGAGG	0.557													T	86198866	C	T	86198866	2	4	74	1	0	0	0	0	0	0	0	1	449	755	27	1		1	AKAP13	15	86198866	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1957499	86198866	16332526	1352	51623											
ABHD2	11057	broad.mit.edu	37	chr15	89698698	89698698	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaaaatggctatcggtgCgccgtgctgaaccacctggg	13	11	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:89698698C>T	uc002bnj.2	+	10	1388	c.471C>T	c.(469-471)TGC>TGT	p.C157C	ABHD2_uc002bnk.2_Silent_p.C157C	NM_007011	NP_008942	P08910	ABHD2_HUMAN	alpha/beta hydrolase domain containing protein	157						integral to membrane	carboxylesterase activity			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCTATCGGTGCGCCGTGCTGA	0.517													T	89698698	C	T	89698698	2	4	74	1	0	0	0	0	0	0	0	1	82	776	27	1		1	ABHD2	15	89698698	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3499832	89698698	12832694	1353	51624											
C15orf42	90381	broad.mit.edu	37	chr15	90163032	90163032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgtctcagccgaagtctcGaagtgtgcaaagagtccact	11	10	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:90163032G>A	uc002boe.2	+	18	3113	c.3113G>A	c.(3112-3114)CGA>CAA	p.R1038Q		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1038					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCGAAGTCTCGAAGTGTGCAA	0.463													A	90163032	G	A	90163032	3	1	74	1	0	0	0	0	1	0	0	0	1796	1058	37	1	3183	1	C15orf42	15	90163032	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	464334	90163032	12368360	1354	51625											
C15orf42	90381	broad.mit.edu	37	chr15	90168297	90168297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccagctcttcattagagGctgagcccctcagcaaggag	10	14	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:90168297G>A	uc002boe.2	+	20	4756	c.4756G>A	c.(4756-4758)GCT>ACT	p.A1586T	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1586					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TTCATTAGAGGCTGAGCCCCT	0.552													A	90168297	G	A	90168297	3	1	74	1	0	0	0	0	1	0	0	0	1796	1203	42	2	4834	2	C15orf42	15	90168297	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	5265	90168297	12363095	1355	51626											
BLM	641	broad.mit.edu	37	chr15	91310208	91310209	+	Frame_Shift_Ins	INS	-	-	A													atatttacctccagttatcaINSaaaaaagacccaatcataaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:91310207_91310208C>CA	uc002bpr.3	+	9	2358_2359	c.2261_2262C>CA	c.(2260-2262)tcafs	p.S754fs	BLM_uc010uqh.2_Frame_Shift_Ins_p.S754fs|BLM_uc010uqi.2_Frame_Shift_Ins_p.S379fs|BLM_uc010bnx.3_Frame_Shift_Ins_p.S754fs	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	754	Helicase ATP-binding.				G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CTCCAGTTATCAAAAAAAGACC	0.272			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				A	91310209	-	A	91310208	7	5	74	1	0	1	1	0	0	0	0	0	1445	117	5	0	2296	0	BLM	15	91310208	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1141911	91310208	11221184	1356	51627											
CHD2	1106	broad.mit.edu	37	chr15	93547949	93547951	+	In_Frame_Del	DEL	GAT	GAT	-													tccccattggagaggatgagGatgatgatctggaccaggag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:93547948_93547950GGAT>G	uc002bsp.3	+	33	4955_4957	c.4380_4382GGAT>G	c.(4378-4383)gaggat>gaGt	p.D1463del	CHD2_uc002bso.1_In_Frame_Del_p.D1463del	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1463					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAGAGGATGAGGATGATGATCTG	0.493													-	93547951	GAT	-	93547949	7	5	74	1	0	1	0	1	0	0	0	0	3325	1174	41	0	4515	0	CHD2	15	93547949	In_Frame_Del	DEL	GAT	TCGA-BR-8361-01A-11D-2340-08	2237741	93547949	8983443	1357	51628											
TTC23	64927	broad.mit.edu	37	chr15	99762036	99762036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaattcttgtcagtgctaCgcaacgcacaagctcatgga	9	11	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:99762036C>T	uc002bur.2	-	5	745	c.214G>A	c.(214-216)GTA>ATA	p.V72I	TTC23_uc002bus.2_Missense_Mutation_p.V72I|TTC23_uc002but.2_Missense_Mutation_p.V72I|TTC23_uc002buu.2_Missense_Mutation_p.V72I|TTC23_uc002buv.2_Missense_Mutation_p.V72I|TTC23_uc002bux.2_Missense_Mutation_p.V72I|TTC23_uc002buw.2_Missense_Mutation_p.V72I|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Missense_Mutation_p.V72I|TTC23_uc010bor.2_Missense_Mutation_p.V72I|TTC23_uc002buz.2_Missense_Mutation_p.V72I	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	72	TPR 1.						binding				0	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GTCAGTGCTACGCAACGCACA	0.448													T	99762036	C	T	99762036	3	4	74	1	0	0	0	0	1	0	0	0	16687	536	19	1	1165	1	TTC23	15	99762036	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	6214087	99762036	2769356	1358	51629											
LYSMD4	145748	broad.mit.edu	37	chr15	100272041	100272041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggacaccgctcttgtggCgctccttgccccggggccgc	15	16	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:100272041C>T	uc002bvk.2	-	2	227	c.164G>A	c.(163-165)CGC>CAC	p.R55H	LYSMD4_uc002bvj.1_Intron|LYSMD4_uc010bou.1_Intron|LYSMD4_uc002bvl.2_Missense_Mutation_p.A26T|LYSMD4_uc002bvm.2_Missense_Mutation_p.R55H|LYSMD4_uc010bov.2_Missense_Mutation_p.R55H			Q5XG99	LYSM4_HUMAN	SubName: Full=cDNA FLJ77040, highly similar to Homo sapiens LysM, putative peptidoglycan-binding, domain containing 4, mRNA; SubName: Full=LysM, putative peptidoglycan-binding, domain containing 4, isoform CRA_c;	55	Extracellular (Potential).				cell wall macromolecule catabolic process	integral to membrane					0	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			GCTCTTGTGGCGCTCCTTGCC	0.632													T	100272041	C	T	100272041	3	4	74	1	0	0	0	0	1	0	0	0	9127	768	27	1	833	1	LYSMD4	15	100272041	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	510005	100272041	2259351	1359	51630											
ADAMTS17	170691	broad.mit.edu	37	chr15	100514714	100514714	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggttcttttctcggaTgacccggcaatataccgtcc	10	12	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:100514714T>C	uc002bvv.1	-	22	3260	c.3181A>G	c.(3181-3183)ATC>GTC	p.I1061V	ADAMTS17_uc002bvw.1_RNA	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1061	PLAC.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TTTTCTCGGATGACCCGGCAA	0.572													C	100514714	T	C	100514714	3	2	74	1	0	0	0	0	1	0	0	0	262	1464	51	3	110	3	ADAMTS17	15	100514714	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	242673	100514714	2016678	1360	51631											
CHSY1	22856	broad.mit.edu	37	chr15	101775512	101775512	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgcccaggcctgtctgCccaagaaagaggggctcgct	15	12	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr15:101775512C>T	uc002bwt.1	-	3	1074	c.591G>A	c.(589-591)GGG>GGA	p.G197G		NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	197	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity				0	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGCCTGTCTGCCCAAGAAAGA	0.557													T	101775512	C	T	101775512	2	4	74	1	0	0	0	0	0	0	0	1	3412	726	26	2		2	CHSY1	15	101775512	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1260798	101775512	755880	1361	51632											
RHBDF1	64285	broad.mit.edu	37	chr16	108986	108986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttacctctgctcggtatgGcaggaagatggcactggcca	12	12	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:108986G>A	uc002cfl.3	-	20	2282	c.2134C>T	c.(2134-2136)CCA>TCA	p.P712S		NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	712	Helical; (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GCTCGGTATGGCAGGAAGATG	0.617													A	108986	G	A	108986	3	1	74	1	0	0	0	0	1	0	0	0	13319	1203	42	2	441	2	RHBDF1	16	108986	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08		108986	90245767	1362	51633											
ARHGDIG	398	broad.mit.edu	37	chr16	331846	331846	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggaggaagagcctcttggaGatccggcagctggacccgga	17	10	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:331846G>T	uc002cgm.1	+	2	249	c.174G>T	c.(172-174)GAG>GAT	p.E58D	PDIA2_uc002cgn.1_5'UTR|PDIA2_uc010bqt.1_5'Flank|PDIA2_uc002cgo.1_5'Flank	NM_001176	NP_001167	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	58					negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			central_nervous_system(1)	1		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCCTCTTGGAGATCCGGCAGC	0.687													T	331846	G	T	331846	3	4	74	1	0	0	0	0	1	0	0	0	892	933	33	5	180	5	ARHGDIG	16	331846	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	222860	331846	90022907	1363	51634											
TMEM8A	58986	broad.mit.edu	37	chr16	426215	426215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccgcatcacggagggcGtgtccgaacacaccctcacc	11	17	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:426215G>A	uc002cgu.3	-	6	1274	c.1145C>T	c.(1144-1146)ACG>ATG	p.T382M	TMEM8A_uc002cgv.3_Missense_Mutation_p.T189M	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	382	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						CACGGAGGGCGTGTCCGAACA	0.642													A	426215	G	A	426215	3	1	74	1	0	0	0	0	1	0	0	0	16211	1145	40	1	1202	1	TMEM8A	16	426215	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	94369	426215	89928538	1364	51635											
SOLH	6650	broad.mit.edu	37	chr16	603450	603450	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagtgactggacagcctcCaaggggacccacagcccccc	10	18	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:603450C>T	uc002chi.2	+	14	3558	c.3195C>T	c.(3193-3195)TCC>TCT	p.S1065S	SOLH_uc002chj.2_Silent_p.S125S	NM_005632	NP_005623	O75808	CAN15_HUMAN	small optic lobes	1065					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(780;0.00335)				GGACAGCCTCCAAGGGGACCC	0.667													T	603450	C	T	603450	2	4	74	1	0	0	0	0	0	0	0	1	14925	581	21	4		4	SOLH	16	603450	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	177235	603450	89751303	1365	51636											
WDR90	197335	broad.mit.edu	37	chr16	708547	708547	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcccggtgtccaccctgagcCctgcccctccttgacgctca	9	20	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:708547C>G	uc002cii.1	+	23	2843	c.2789C>G	c.(2788-2790)CCC>CGC	p.P930R	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.P457R|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Missense_Mutation_p.P104R|WDR90_uc002cin.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	930	WD 10.									ovary(1)	1		Hepatocellular(780;0.0218)				CACCCTGAGCCCTGCCCCTCC	0.662													G	708547	C	G	708547	3	3	74	1	0	0	0	0	1	0	0	0	17334	623	22	5	2879	5	WDR90	16	708547	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	105097	708547	89646206	1366	51637											
RHOT2	89941	broad.mit.edu	37	chr16	721707	721707	+	Frame_Shift_Del	DEL	C	C	-													ctccctgcaggatccacgtgCcccccggctgcagcacggag					rs74448859		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:721706_721706GC>G	uc002cip.3	+	11	996	c.879_879GC>G	c.(877-879)gtgfs	p.V293fs	RHOT2_uc002ciq.3_Frame_Shift_Del_p.V186fs|RHOT2_uc010bqy.3_Frame_Shift_Del_p.V72fs	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	Homo sapiens ras homolog gene family, member T2 (RHOT2), nuclear gene encoding mitochondrial protein, mRNA.	293					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GGATCCACGTGCCCCCCGGCT	0.642													-	721707	C	-	721707	7	5	74	1	0	1	0	1	0	0	0	0	13344	739	26	0	926	0	RHOT2	16	721707	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	13160	721707	89633046	1367	51638											
STUB1	10273	broad.mit.edu	37	chr16	732226	732226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagctgatgcgggagccgtGcatcacgcccagtggcatca	14	12	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:732226G>A	uc002cit.2	+	6	1142	c.731G>A	c.(730-732)TGC>TAC	p.C244Y	STUB1_uc002ciu.2_Missense_Mutation_p.C172Y|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002cix.1_3'UTR|JMJD8_uc002ciy.1_3'UTR	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1	244	U-box.				cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity				0		Hepatocellular(780;0.00335)				CGGGAGCCGTGCATCACGCCC	0.637													A	732226	G	A	732226	3	1	74	1	0	0	0	0	1	0	0	0	15334	1319	46	2	753	2	STUB1	16	732226	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	10519	732226	89622527	1368	51639											
UNKL	64718	broad.mit.edu	37	chr16	1416329	1416329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgtggtgctgacagggcCgcaggacagcaccgtgggcc	18	11	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:1416329C>T	uc010brn.1	-	9	1103	c.1085G>A	c.(1084-1086)CGG>CAG	p.R362Q	UNKL_uc002cln.2_Missense_Mutation_p.R204Q|UNKL_uc002clo.2_Missense_Mutation_p.R201Q|UNKL_uc002clp.2_Missense_Mutation_p.R154Q			Q9H9P5	UNKL_HUMAN	SubName: Full=Putative ubiquitin-protein ligase;          EC=6.3.2.19; Flags: Fragment;	652	RING-type.					cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding				0		Hepatocellular(780;0.0893)				CTGACAGGGCCGCAGGACAGC	0.682													T	1416329	C	T	1416329	3	4	74	1	0	0	0	0	1	0	0	0	16998	652	23	1	91	1	UNKL	16	1416329	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	684103	1416329	88938424	1369	51640											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1818260	1818260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggggcatcatccacgtgtAtggcgatgacagcagtgaca	14	10	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:1818260A>G	uc002cmk.2	+	30	3740	c.3620A>G	c.(3619-3621)TAT>TGT	p.Y1207C	MAPK8IP3_uc002cml.2_Missense_Mutation_p.Y1201C|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.Y1208C	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	1207					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						ATCCACGTGTATGGCGATGAC	0.647													G	1818260	A	G	1818260	3	3	74	1	0	0	0	0	1	0	0	0	9286	449	16	3	3754	3	MAPK8IP3	16	1818260	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	401931	1818260	88536493	1370	51641											
TSC2	7249	broad.mit.edu	37	chr16	2131648	2131648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcagccctttctcctcGgacatcaacaacatgcccct	5	19	3	0	rs137854393		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:2131648G>A	uc002con.2	+	31	3769	c.3663G>A	c.(3661-3663)TCG>TCA	p.S1221S	TSC2_uc010bsd.2_Silent_p.S1221S|TSC2_uc002coo.2_Silent_p.S1177S|TSC2_uc010uvv.1_Silent_p.S1141S|TSC2_uc010uvw.1_Silent_p.S1129S|TSC2_uc002cop.2_Silent_p.S977S|TSC2_uc002coq.2_5'Flank|TSC2_uc002cor.2_5'Flank	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	1221					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				CTTTCTCCTCGGACATCAACA	0.622			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				A	2131648	G	A	2131648	2	1	74	1	0	0	0	0	0	0	0	1	16603	1103	39	1		1	TSC2	16	2131648	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	313388	2131648	88223105	1371	51642											
PKD1	5310	broad.mit.edu	37	chr16	2153811	2153811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaggttgtaggcctgggaCgccaccatccgagatggtga	15	10	1	2	rs143265128	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:2153811C>T	uc002cos.1	-	23	8456	c.8247G>A	c.(8245-8247)GCG>GCA	p.A2749A	PKD1_uc002cot.1_Silent_p.A2749A|PKD1_uc010bse.1_RNA	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2749	Extracellular (Potential).|REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						AGGCCTGGGACGCCACCATCC	0.667													T	2153811	C	T	2153811	2	4	74	1	0	0	0	0	0	0	0	1	11963	523	19	1		1	PKD1	16	2153811	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	22163	2153811	88200942	1372	51643											
PKD1	5310	broad.mit.edu	37	chr16	2168071	2168071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctcggcggagccgtctcCgaagtcccagcgtgtggcag	14	15	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:2168071C>T	uc002cos.1	-	5	1131	c.922G>A	c.(922-924)GGA>AGA	p.G308R	PKD1_uc002cot.1_Missense_Mutation_p.G308R	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	308	Extracellular (Potential).|PKD 1.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						GAGCCGTCTCCGAAGTCCCAG	0.716													T	2168071	C	T	2168071	3	4	74	1	0	0	0	0	1	0	0	0	11963	661	23	1	12157	1	PKD1	16	2168071	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	14260	2168071	88186682	1373	51644											
E4F1	1877	broad.mit.edu	37	chr16	2278400	2278400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgtgcacagatgcggccGctgccaggcagagttcaccg	14	13	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:2278400G>A	uc002cpm.2	+	2	233	c.185G>A	c.(184-186)CGC>CAC	p.R62H	E4F1_uc010bsi.2_Missense_Mutation_p.R62H|E4F1_uc010bsj.2_Missense_Mutation_p.R62H	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	p120E4F	62	Required for ubiquitin ligase activity.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						AGATGCGGCCGCTGCCAGGCA	0.657													A	2278400	G	A	2278400	3	1	74	1	0	0	0	0	1	0	0	0	4874	1087	38	1	191	1	E4F1	16	2278400	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	110329	2278400	88076353	1374	51645											
TBC1D24	57465	broad.mit.edu	37	chr16	2547019	2547019	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagctgctggagaaagcgttCgccatccgcctcttctcccg	10	15	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:2547019C>T	uc002cql.2	+	2	1010	c.870C>T	c.(868-870)TTC>TTT	p.F290F	TBC1D24_uc002cqk.2_Silent_p.F290F|TBC1D24_uc002cqm.2_Silent_p.F290F|TBC1D24_uc010bsm.2_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	290					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity				0						AGAAAGCGTTCGCCATCCGCC	0.597													T	2547019	C	T	2547019	2	4	74	1	0	0	0	0	0	0	0	1	15611	883	31	1		1	TBC1D24	16	2547019	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	268619	2547019	87807734	1375	51646											
CEMP1	752014	broad.mit.edu	37	chr16	2580894	2580894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggatacccacctctgcctTgacggccgcgcaccccttag	10	17	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:2580894T>C	uc002cqr.2	-	1	537	c.181A>G	c.(181-183)AAG>GAG	p.K61E	AMDHD2_uc010uwc.1_3'UTR|AMDHD2_uc010uwd.1_3'UTR	NM_001048212	NP_001041677	Q6PRD7	CEMP1_HUMAN	cementum protein 1	61						cytoplasm				skin(1)	1						ACCTCTGCCTTGACGGCCGCG	0.667													C	2580894	T	C	2580894	3	2	74	1	0	0	0	0	1	0	0	0	3224	1821	63	3	566	3	CEMP1	16	2580894	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	33875	2580894	87773859	1376	51647											
SRRM2	23524	broad.mit.edu	37	chr16	2815963	2815963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcaaggtcgcgggttactCggcggcggaggggaggctct	20	9	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:2815963C>T	uc002crk.2	+	11	5983	c.5434C>T	c.(5434-5436)CGG>TGG	p.R1812W	SRRM2_uc002crj.1_Missense_Mutation_p.R1716W|SRRM2_uc002crl.1_Missense_Mutation_p.R1812W|SRRM2_uc010bsu.1_Missense_Mutation_p.R1716W	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1812	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GCGGGTTACTCGGCGGCGGAG	0.612													T	2815963	C	T	2815963	3	4	74	1	0	0	0	0	1	0	0	0	15168	875	31	1	5472	1	SRRM2	16	2815963	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	235069	2815963	87538790	1377	51648											
CLDN9	9080	broad.mit.edu	37	chr16	3063810	3063810	+	Frame_Shift_Del	DEL	C	C	-													atcatccaggacttctacaaCcccctggtggctgaggccct							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:3063809_3063809AC>A	uc010uwo.1	+	0	1353	c.446_446AC>A	c.(445-447)aacfs	p.N149fs		NM_020982	NP_066192	O95484	CLD9_HUMAN	Homo sapiens claudin 9 (CLDN9), mRNA.	149					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						GACTTCTACAACCCCCTGGTG	0.687													-	3063810	C	-	3063810	7	5	74	1	0	1	0	1	0	0	0	0	3492	506	18	0	449	0	CLDN9	16	3063810	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	247847	3063810	87290943	1378	51649											
ZNF205	7755	broad.mit.edu	37	chr16	3170262	3170262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgggcccaaggccctggCcatgctgatgctgggggcgg	17	14	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:3170262C>T	uc002cub.2	+	7	1736	c.1601C>T	c.(1600-1602)GCC>GTC	p.A534V	ZNF205_uc002cua.2_Missense_Mutation_p.A534V	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						AAGGCCCTGGCCATGCTGATG	0.632													T	3170262	C	T	3170262	3	4	74	1	0	0	0	0	1	0	0	0	17761	739	26	2	1623	2	ZNF205	16	3170262	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	106452	3170262	87184491	1379	51650											
CREBBP	1387	broad.mit.edu	37	chr16	3778706	3778706	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccaggctggggctgcatGccgggctgattggccacgta	17	11	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:3778706G>A	uc002cvv.2	-	31	6546	c.6342C>T	c.(6340-6342)GGC>GGT	p.G2114G	CREBBP_uc002cvw.2_Silent_p.G2076G	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2114					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGGGCTGCATGCCGGGCTGAT	0.602			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				A	3778706	G	A	3778706	2	1	74	1	0	0	0	0	0	0	0	1	3861	1306	46	2		2	CREBBP	16	3778706	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	608444	3778706	86576047	1380	51651											
TXNDC11	51061	broad.mit.edu	37	chr16	11836559	11836559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcgctgctgctgctgcCgccgccgcggcctccgcatt	12	19	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:11836559C>T	uc010buu.1	-	1	90	c.28G>A	c.(28-30)GGC>AGC	p.G10S	TXNDC11_uc002dbg.1_Missense_Mutation_p.G10S	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	10					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						ctgctgctgccgccgccgcgg	0.473													T	11836559	C	T	11836559	3	4	74	1	0	0	0	0	1	0	0	0	16789	652	23	1	2896	1	TXNDC11	16	11836559	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	8057853	11836559	78518194	1381	51652											
RUNDC2A	84127	broad.mit.edu	37	chr16	12146024	12146024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgaaaacgaagatgacGtgtatggaaactcatcagga	12	5	2	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:12146024G>A	uc002dbw.1	+	8	1131	c.1069G>A	c.(1069-1071)GTG>ATG	p.V357M	SNX29_uc002dby.3_5'Flank	NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN	RUN domain containing 2A	357										ovary(1)	1						CGAAGATGACGTGTATGGAAA	0.393			T	CIITA	PMBL|Hodgkin Lymphona|								A	12146024	G	A	12146024	3	1	74	1	0	0	0	0	1	0	0	0	13743	1145	40	1	1099	1	RUNDC2A	16	12146024	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	309465	12146024	78208729	1382	51653											
BFAR	51283	broad.mit.edu	37	chr16	14761545	14761545	+	Frame_Shift_Del	DEL	T	T	-													gaaagtatcaacgcaggggcTttttgtggccatgttctggc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:14761544_14761544CT>C	uc002dco.3	+	7	1494	c.1213_1213CT>C	c.(1213-1215)cttfs	p.L405fs	BFAR_uc010uzh.2_Frame_Shift_Del_p.L277fs	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	Homo sapiens bifunctional apoptosis regulator (BFAR), mRNA.	405					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						AACGCAGGGGCTTTTTGTGGC	0.473													-	14761545	T	-	14761545	7	5	74	1	0	1	0	1	0	0	0	0	1414	1609	56	0	1240	0	BFAR	16	14761545	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	2615521	14761545	75593208	1383	51654											
ABCC6	368	broad.mit.edu	37	chr16	16291892	16291892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatacctgccagagatagaCgaagcagaccacgatccaga	10	12	0	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:16291892C>T	uc002den.3	-	10	1361	c.1324G>A	c.(1324-1326)GTC>ATC	p.V442I	ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Missense_Mutation_p.V454I	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	442	ABC transmembrane type-1 1.|Helical; Name=8; (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CAGAGATAGACGAAGCAGACC	0.443													T	16291892	C	T	16291892	3	4	74	1	0	0	0	0	1	0	0	0	57	536	19	1	3275	1	ABCC6	16	16291892	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1530347	16291892	74062861	1384	51655											
SMG1	23049	broad.mit.edu	37	chr16	18847464	18847464	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctccccctccagctgctcGcactggctaatcaagtgggc	9	17	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:18847464G>A	uc002dfm.2	-	48	8211	c.7848C>T	c.(7846-7848)TGC>TGT	p.C2616C	SMG1_uc010bwb.2_Silent_p.C2476C|SMG1_uc010bwa.2_Silent_p.C1347C	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2616					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						CCAGCTGCTCGCACTGGCTAA	0.557													A	18847464	G	A	18847464	2	1	74	1	0	0	0	0	0	0	0	1	14795	1079	38	1		1	SMG1	16	18847464	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2555572	18847464	71507289	1385	51656											
IQCK	124152	broad.mit.edu	37	chr16	19800166	19800166	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattgcttttcagcccacgGccgccaatcccactctcgct	6	17	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:19800166G>A	uc002dgr.2	+	8	1311	c.612G>A	c.(610-612)CGG>CGA	p.R204R	IQCK_uc002dgs.2_RNA|IQCK_uc010vat.1_Intron|IQCK_uc010bwc.2_RNA|IQCK_uc010vau.1_Silent_p.R116R	NM_153208	NP_694940	Q8N0W5	IQCK_HUMAN	IQ motif containing K	204										skin(1)	1						TCAGCCCACGGCCGCCAATCC	0.483													A	19800166	G	A	19800166	2	1	74	1	0	0	0	0	0	0	0	1	7813	1190	42	2		2	IQCK	16	19800166	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	952702	19800166	70554587	1386	51657											
PDILT	204474	broad.mit.edu	37	chr16	20386161	20386161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctttttgaacaccaggaCgctgtcaagggtgacgtgga	12	9	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:20386161C>T	uc002dhc.1	-	5	887	c.664G>A	c.(664-666)GTC>ATC	p.V222I		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	222					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1						AACACCAGGACGCTGTCAAGG	0.363													T	20386161	C	T	20386161	3	4	74	1	0	0	0	0	1	0	0	0	11674	536	19	1	1122	1	PDILT	16	20386161	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	585995	20386161	69968592	1387	51658											
LOC81691	81691	broad.mit.edu	37	chr16	20851760	20851760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagctttggcccagtccaGtcaatgacttttgttcttga	8	9	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:20851760G>A	uc002dhv.2	+	15	1859	c.1596G>A	c.(1594-1596)CAG>CAA	p.Q532Q	ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Silent_p.Q532Q|LOC81691_uc002dhw.2_Silent_p.Q275Q|LOC81691_uc002dhy.3_Silent_p.Q532Q	NM_030941	NP_112203	Q96IC2	REXON_HUMAN	exonuclease NEF-sp isoform 1	532	RRM 1.					nucleolus	exonuclease activity|nucleotide binding|RNA binding			ovary(1)|kidney(1)	2						GCCCAGTCCAGTCAATGACTT	0.428													A	20851760	G	A	20851760	2	1	74	1	0	0	0	0	0	0	0	1	8890	1020	36	4		4	LOC81691	16	20851760	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	465599	20851760	69502993	1388	51659											
DNAH3	55567	broad.mit.edu	37	chr16	21151866	21151866	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaacgtacctccaggtcCgattcagatggcttcttttc	9	12	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:21151866C>T	uc010vbe.1	-	5	687	c.687G>A	c.(685-687)TCG>TCA	p.S229S	DNAH3_uc002die.2_Silent_p.S200S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	229	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CCTCCAGGTCCGATTCAGATG	0.418													T	21151866	C	T	21151866	2	4	74	1	0	0	0	0	0	0	0	1	4603	639	23	1		1	DNAH3	16	21151866	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	300106	21151866	69202887	1389	51660											
SCNN1G	6340	broad.mit.edu	37	chr16	23208718	23208718	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaacagagattgagacAgcaatggtcacctctatagg	13	7	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:23208718A>C	uc002dlm.1	+	6	1186	c.1047A>C	c.(1045-1047)ACA>ACC	p.T349T		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma	349	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	AGATTGAGACAGCAATGGTCA	0.448													C	23208718	A	C	23208718	2	2	74	1	0	0	0	0	0	0	0	1	13930	175	7	5		5	SCNN1G	16	23208718	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	2056852	23208718	67146035	1390	51661											
PALB2	79728	broad.mit.edu	37	chr16	23646981	23646981	+	Frame_Shift_Del	DEL	T	T	-													gttatctgtagagacagtcaTttttttgccttgtgcctcca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:23646980_23646980AT>A	uc002dlx.1	-	3	1087	c.887_887AT>T	c.(886-888)atgfs	p.M296fs		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	296	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		AGAGACAGTCATTTTTTTGCC	0.368			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					-	23646981	T	-	23646981	7	5	74	1	0	1	0	1	0	0	0	0	11406	1493	52	0	2714	0	PALB2	16	23646981	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	438263	23646981	66707772	1391	51662											
CHP2	63928	broad.mit.edu	37	chr16	23768529	23768529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcatctctcaggttctccGtctgatggttggggtacagg	12	10	5	1	rs112597134	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:23768529G>A	uc002dmb.1	+	6	845	c.422G>A	c.(421-423)CGT>CAT	p.R141H		NM_022097	NP_071380	O43745	CHP2_HUMAN	hepatocellular carcinoma antigen gene 520	141	EF-hand 3.						calcium ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(48;0.0144)		CAGGTTCTCCGTCTGATGGTT	0.562													A	23768529	G	A	23768529	3	1	74	1	0	0	0	0	1	0	0	0	3367	1145	40	1	444	1	CHP2	16	23768529	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	121548	23768529	66586224	1392	51663											
RBBP6	5930	broad.mit.edu	37	chr16	24582804	24582804	+	Frame_Shift_Del	DEL	A	A	-													acttcactcccaatagagacAaaaaaactgactatgacacc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:24582804delA	uc002dmh.2	+	18	5457	c.4417delA	c.(4417-4419)AAAfs	p.K1473fs	RBBP6_uc002dmi.2_Frame_Shift_Del_p.K1439fs|RBBP6_uc010bxr.2_Frame_Shift_Del_p.K633fs|RBBP6_uc002dmk.2_Frame_Shift_Del_p.K1306fs	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1473	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		CAATAGAGACAAAAAAACTGA	0.368													-	24582804	A	-	24582804	7	5	74	1	0	1	0	1	0	0	0	0	13103	131	5	0	4541	0	RBBP6	16	24582804	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	814275	24582804	65771949	1393	51664											
TNRC6A	27327	broad.mit.edu	37	chr16	24831653	24831653	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgtataggtggaggatgGggaaattctgacgccagata	14	6	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:24831653G>A	uc002dmm.2	+	22	5388	c.5274G>A	c.(5272-5274)TGG>TGA	p.W1758*	TNRC6A_uc010bxs.2_Nonsense_Mutation_p.W1505*|TNRC6A_uc002dmn.2_Nonsense_Mutation_p.W1456*|TNRC6A_uc002dmo.2_Nonsense_Mutation_p.W1397*|TNRC6A_uc002dmr.2_5'Flank	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1758	Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		GTGGAGGATGGGGAAATTCTG	0.502													A	24831653	G	A	24831653	4	1	74	1	0	0	0	0	0	1	0	0	16337	1241	43	4	5360	4	TNRC6A	16	24831653	Nonsense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	248849	24831653	65523100	1394	51665											
CLN3	1201	broad.mit.edu	37	chr16	28497797	28497797	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagtccctgaggaccacCaggagatcacggccctggga	12	16	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:28497797C>T	uc002dpo.2	-	8	871	c.548G>A	c.(547-549)TGG>TAG	p.W183*	uc010vct.1_Intron|CLN3_uc002dpl.2_Nonsense_Mutation_p.W105*|CLN3_uc010vcu.1_Nonsense_Mutation_p.W83*|CLN3_uc002dpn.2_Intron|CLN3_uc002dpm.2_Nonsense_Mutation_p.W129*|CLN3_uc010vcv.1_Nonsense_Mutation_p.W159*|CLN3_uc010byd.2_Nonsense_Mutation_p.W183*|CLN3_uc002dpp.2_Nonsense_Mutation_p.W183*|CLN3_uc002dpt.1_Nonsense_Mutation_p.W83*|CLN3_uc002dpq.1_Intron|CLN3_uc010bye.1_Nonsense_Mutation_p.W183*|CLN3_uc002dpr.1_Intron|CLN3_uc010byf.1_Intron|CLN3_uc002dps.1_Intron|CLN3_uc002dpu.1_Intron|CLN3_uc002dpw.1_Intron|CLN3_uc010vcw.1_Nonsense_Mutation_p.W129*|CLN3_uc002dqa.2_Nonsense_Mutation_p.W234*|CLN3_uc010vcx.1_Nonsense_Mutation_p.W83*|CLN3_uc002dpx.1_Intron|CLN3_uc002dpy.1_Intron|CLN3_uc002dpz.1_RNA	NM_000086	NP_000077	Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	183	Helical; (Potential).				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding				0						TGAGGACCACCAGGAGATCAC	0.652													T	28497797	C	T	28497797	4	4	74	1	0	0	0	0	0	1	0	0	3543	595	21	4	800	4	CLN3	16	28497797	Nonsense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3666144	28497797	61856956	1395	51666											
SULT1A1	6817	broad.mit.edu	37	chr16	28620148	28620148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcacgtactccagtggcGggcgggaggtgtcctggatc	15	12	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:28620148G>A	uc002dqi.2	-	1	502	c.29C>T	c.(28-30)CCG>CTG	p.P10L	uc010vct.1_Intron|SULT1A1_uc002dqj.2_Missense_Mutation_p.P10L|SULT1A1_uc002dqk.2_Missense_Mutation_p.P10L|SULT1A1_uc002dql.2_Missense_Mutation_p.P10L|SULT1A1_uc002dqm.2_Intron|SULT1A1_uc002dqn.2_Missense_Mutation_p.P101L|SULT1A1_uc002dqo.2_Missense_Mutation_p.P10L|SULT1A1_uc002dqp.2_Missense_Mutation_p.P10L	NM_177534	NP_803878	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A,	10					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						CTCCAGTGGCGGGCGGGAGGT	0.602													A	28620148	G	A	28620148	3	1	74	1	0	0	0	0	1	0	0	0	15371	1116	39	1	886	1	SULT1A1	16	28620148	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	122351	28620148	61734605	1396	51667											
RABEP2	79874	broad.mit.edu	37	chr16	28922469	28922469	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtcccgctcgcgactgAcgctctccaggtccttctgc	10	18	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:28922469A>C	uc002drq.2	-	6	974	c.926T>G	c.(925-927)GTC>GGC	p.V309G	uc010vct.1_Intron|RABEP2_uc010vdf.1_Missense_Mutation_p.V238G|RABEP2_uc010byn.2_Intron|RABEP2_uc002drr.2_Missense_Mutation_p.V309G	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	309	Potential.				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			ovary(1)|breast(1)|skin(1)	3						CTCGCGACTGACGCTCTCCAG	0.537													C	28922469	A	C	28922469	3	2	74	1	0	0	0	0	1	0	0	0	12962	275	10	5	815	5	RABEP2	16	28922469	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	302321	28922469	61432284	1397	51668											
KIF22	3835	broad.mit.edu	37	chr16	29816292	29816292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcttcagcgcattggccCgaagaaggcccagctaatcg	11	13	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:29816292C>T	uc002dts.3	+	12	1859	c.1835C>T	c.(1834-1836)CCG>CTG	p.P612L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Missense_Mutation_p.P544L|KIF22_uc010vdw.1_Missense_Mutation_p.P544L|KIF22_uc010bzf.2_Missense_Mutation_p.P558L|KIF22_uc002dtt.1_3'UTR|KIF22_uc002frc.1_RNA|MAZ_uc002dtv.1_5'Flank|MAZ_uc010vdx.1_5'Flank|MAZ_uc002dtw.2_5'Flank|MAZ_uc002dtx.2_5'Flank|MAZ_uc002dty.2_5'Flank|MAZ_uc010bzg.2_5'Flank|MAZ_uc002dtz.1_5'Flank	NM_007317	NP_015556	Q14807	KIF22_HUMAN	kinesin family member 22	612					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding				0						CGCATTGGCCCGAAGAAGGCC	0.652													T	29816292	C	T	29816292	3	4	74	1	0	0	0	0	1	0	0	0	8290	652	23	1	1881	1	KIF22	16	29816292	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	893823	29816292	60538461	1398	51669											
CD2BP2	10421	broad.mit.edu	37	chr16	30365563	30365563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccccccatcatcatcatcCtcctcctcatcgctatccaa	2	20	4	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:30365563C>T	uc002dxr.2	-	2	412	c.159G>A	c.(157-159)GAG>GAA	p.E53E	CD2BP2_uc002dxs.2_Silent_p.E53E	NM_006110	NP_006101	O95400	CD2B2_HUMAN	CD2 antigen (cytoplasmic tail) binding protein	53					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			ovary(1)	1						CATCATCATCCTCCTCCTCAT	0.517													T	30365563	C	T	30365563	2	4	74	1	0	0	0	0	0	0	0	1	2995	680	24	4		4	CD2BP2	16	30365563	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	549271	30365563	59989190	1399	51670											
SRCAP	10847	broad.mit.edu	37	chr16	30734369	30734369	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggactgactcctgttcctccAttggccccagcaccccggcc	9	19	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:30734369A>G	uc002dze.1	+	24	4363	c.3978A>G	c.(3976-3978)CCA>CCG	p.P1326P	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.P1121P|SRCAP_uc010bzz.1_Silent_p.P896P	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1326	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CTGTTCCTCCATTGGCCCCAG	0.587													G	30734369	A	G	30734369	2	3	74	1	0	0	0	0	0	0	0	1	15134	204	8	3		3	SRCAP	16	30734369	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	368806	30734369	59620384	1400	51671											
SRCAP	10847	broad.mit.edu	37	chr16	30736371	30736372	+	Frame_Shift_Ins	INS	-	-	C													cccccggcctcgacgccagcINScccccccaccacctcgttcc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:30736370_30736371G>GC	uc002dze.1	+	24	6010_6011	c.5625_5626G>GC	c.(5623-5628)cagcccfs	p.Q1875fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Ins_p.Q1670fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1875	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGACGCCAGCCCCCCCCACC	0.569													C	30736372	-	C	30736371	7	5	74	1	0	1	1	0	0	0	0	0	15134	739	26	0	5716	0	SRCAP	16	30736371	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	2002	30736371	59618382	1401	51672											
SRCAP	10847	broad.mit.edu	37	chr16	30745251	30745251	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acagtggaggagaacatcctAaaaaaggcaaatcagaagag	11	6	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:30745251A>T	uc002dze.1	+	30	6916	c.6531A>T	c.(6529-6531)CTA>CTT	p.L2177L	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.L1972L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2177	Helicase C-terminal.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			AGAACATCCTAAAAAAGGCAA	0.463													T	30745251	A	T	30745251	2	4	74	1	0	0	0	0	0	0	0	1	15134	349	13	5		5	SRCAP	16	30745251	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	8880	30745251	59609502	1402	51673											
SETD1A	9739	broad.mit.edu	37	chr16	30977360	30977360	+	Frame_Shift_Del	DEL	C	C	-													aggccttcctcccgtttccaCccccgcaggaggcagcctac							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:30977359_30977359AC>A	uc002ead.1	+	7	2843	c.2157_2157AC>A	c.(2155-2157)ccafs	p.P719fs		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	719					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCCCGTTTCCACCCCCGCAGG	0.657													-	30977360	C	-	30977360	7	5	74	1	0	1	0	1	0	0	0	0	14130	507	18	0	2184	0	SETD1A	16	30977360	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	232109	30977360	59377393	1403	51674											
SETD1A	9739	broad.mit.edu	37	chr16	30991058	30991058	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgccagccctgcggccCccggagccagtgcccgcacc	12	22	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:30991058C>A	uc002ead.1	+	14	4637	c.3951C>A	c.(3949-3951)CCC>CCA	p.P1317P		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						CCCTGCGGCCCCCGGAGCCAG	0.721													A	30991058	C	A	30991058	2	1	74	1	0	0	0	0	0	0	0	1	14130	610	22	5		5	SETD1A	16	30991058	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	13698	30991058	59363695	1404	51675											
ZNF646	9726	broad.mit.edu	37	chr16	31091754	31091754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcgttgcgccctctgtgGccgcagcttccctggccggg	15	15	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:31091754G>A	uc002eap.2	+	2	4398	c.4109G>A	c.(4108-4110)GGC>GAC	p.G1370D		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1370	C2H2-type 25.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						GCCCTCTGTGGCCGCAGCTTC	0.667													A	31091754	G	A	31091754	3	1	74	1	0	0	0	0	1	0	0	0	18059	1203	42	2	4111	2	ZNF646	16	31091754	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	100696	31091754	59262999	1405	51676											
BCKDK	10295	broad.mit.edu	37	chr16	31123563	31123563	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctccgccacatcgatggcCgggaggaaagcttccggatc	14	13	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:31123563C>A	uc002eaw.3	+	12	1532	c.1216C>A	c.(1216-1218)CGG>AGG	p.R406R	BCKDK_uc002eav.3_3'UTR|BCKDK_uc010cah.2_RNA|BCKDK_uc010cai.2_3'UTR	NM_005881	NP_005872	O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	406					branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			stomach(1)|breast(1)	2						CATCGATGGCCGGGAGGAAAG	0.682													A	31123563	C	A	31123563	2	1	74	1	0	0	0	0	0	0	0	1	1361	643	23	5		5	BCKDK	16	31123563	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	31809	31123563	59231190	1406	51677											
PRSS36	146547	broad.mit.edu	37	chr16	31151942	31151942	+	Frame_Shift_Del	DEL	G	G	-													gctcagctccaggagggccaGggggggcctgagtcccaggt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:31151942delG	uc002ebd.2	-	13	2097	c.2038delC	c.(2038-2040)CTGfs	p.L680fs	PRSS36_uc010vff.1_Frame_Shift_Del_p.L455fs|PRSS36_uc010vfg.1_Frame_Shift_Del_p.L675fs|PRSS36_uc010vfh.1_Intron	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	protease, serine, 36 precursor	680	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			ovary(1)	1						AGGAGGGCCAGGGGGGGCCTG	0.726													-	31151942	G	-	31151942	7	5	74	1	0	1	0	1	0	0	0	0	12625	991	35	0	541	0	PRSS36	16	31151942	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	28379	31151942	59202811	1407	51678											
ARMC5	79798	broad.mit.edu	37	chr16	31473294	31473294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccagaaccgaacggcccGtgccctggggaacttagcca	11	15	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:31473294G>A	uc002ecc.2	+	2	1056	c.527G>A	c.(526-528)CGT>CAT	p.R176H	ARMC5_uc010vfn.1_Missense_Mutation_p.R271H|ARMC5_uc010vfo.1_Missense_Mutation_p.R208H|ARMC5_uc002eca.3_Missense_Mutation_p.R176H|ARMC5_uc010vfp.1_Missense_Mutation_p.R176H|ARMC5_uc002ecb.2_Missense_Mutation_p.R176H	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	176	ARM 1.						binding			pancreas(1)	1						CGAACGGCCCGTGCCCTGGGG	0.562													A	31473294	G	A	31473294	3	1	74	1	0	0	0	0	1	0	0	0	954	1145	40	1	533	1	ARMC5	16	31473294	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	321352	31473294	58881459	1408	51679											
SHCBP1	79801	broad.mit.edu	37	chr16	46615864	46615864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagggtcagttcttgcaCaaagctccattttaccagtt	8	10	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:46615864C>T	uc002eec.3	-	13	1836	c.1796G>A	c.(1795-1797)TGT>TAT	p.C599Y		NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	599										ovary(1)|breast(1)	2		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				AGTTCTTGCACAAAGCTCCAT	0.423													T	46615864	C	T	46615864	3	4	74	1	0	0	0	0	1	0	0	0	14274	478	17	4	226	4	SHCBP1	16	46615864	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	15142570	46615864	43738889	1409	51680											
DNAJA2	10294	broad.mit.edu	37	chr16	47001471	47001471	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gactgcatctgttgtaccatCcctggagccagctgtctgat	10	12	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:47001471C>A	uc002eeo.2	-	5	673	c.531G>T	c.(529-531)GGG>GGT	p.G177G	DNAJA2_uc002eep.2_Silent_p.G94G	NM_005880	NP_005871	O60884	DNJA2_HUMAN	DnaJ subfamily A member 2	177	CR-type.				positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			lung(1)	1		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				GTTGTACCATCCCTGGAGCCA	0.493													A	47001471	C	A	47001471	2	1	74	1	0	0	0	0	0	0	0	1	4612	842	30	5		5	DNAJA2	16	47001471	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	385607	47001471	43353282	1410	51681											
ITFG1	81533	broad.mit.edu	37	chr16	47192809	47192809	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgccaatgtaaaatgccaAttattgccaagatgaaaaca	6	9	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:47192809A>G	uc002eet.2	-	17	1816	c.1754T>C	c.(1753-1755)ATT>ACT	p.I585T	ITFG1_uc010vgg.1_Missense_Mutation_p.I330T|ITFG1_uc010vgh.1_Silent_p.N453N	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	585	Helical; (Potential).					extracellular region|integral to membrane				ovary(1)|central_nervous_system(1)	2		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TAAAATGCCAATTATTGCCAA	0.333													G	47192809	A	G	47192809	3	3	74	1	0	0	0	0	1	0	0	0	7869	101	4	3	92	3	ITFG1	16	47192809	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	191338	47192809	43161944	1411	51682											
PHKB	5257	broad.mit.edu	37	chr16	47684785	47684785	+	Frame_Shift_Del	DEL	A	A	-													tagatatgctggcagcccttAaaaaaggaataattggagga					rs35494330		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:47684784_47684784TA>T	uc002eev.4	+	19	1975	c.1923_1923TA>T	c.(1921-1923)cttfs	p.L641fs	PHKB_uc002eeu.4_Frame_Shift_Del_p.L634fs	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	641					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TGGCAGCCCTTAAAAAAGGAA	0.338													-	47684785	A	-	47684785	7	5	74	1	0	1	0	1	0	0	0	0	11845	363	13	0	2061	0	PHKB	16	47684785	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	491976	47684785	42669968	1412	51683											
C16orf78	123970	broad.mit.edu	37	chr16	49430587	49430587	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaggaggtgctgagctgCcggtgagagctgccaccccc	15	14	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:49430587C>T	uc002efr.2	+	4	691	c.648C>T	c.(646-648)TGC>TGT	p.C216C		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	hypothetical protein LOC123970	216										central_nervous_system(1)	1						TGCTGAGCTGCCGGTGAGAGC	0.552													T	49430587	C	T	49430587	2	4	74	1	0	0	0	0	0	0	0	1	1835	747	26	2		2	C16orf78	16	49430587	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1745802	49430587	40924166	1413	51684											
ZNF423	23090	broad.mit.edu	37	chr16	49669865	49669865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactccttgaggcacagggcGcacttgtagagcttctgcag	12	11	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:49669865G>A	uc002efs.2	-	5	3496	c.3198C>T	c.(3196-3198)TGC>TGT	p.C1066C	ZNF423_uc010vgn.1_Silent_p.C949C	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1066	C2H2-type 25; degenerate.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GGCACAGGGCGCACTTGTAGA	0.642													A	49669865	G	A	49669865	2	1	74	1	0	0	0	0	0	0	0	1	17895	1079	38	1		1	ZNF423	16	49669865	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	239278	49669865	40684888	1414	51685											
CYLD	1540	broad.mit.edu	37	chr16	50785592	50785592	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtgatgaagattgtggCgtgtttgttgcattggacaa	14	4	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:50785592C>T	uc002egp.1	+	5	997	c.582C>T	c.(580-582)GGC>GGT	p.G194G	CYLD_uc002egn.1_Silent_p.G194G|CYLD_uc002ego.2_Silent_p.G194G|CYLD_uc010cbs.1_Silent_p.G194G|CYLD_uc002egq.1_Silent_p.G194G|CYLD_uc002egr.1_Silent_p.G194G|CYLD_uc002egs.1_Silent_p.G194G	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	194	CAP-Gly 1.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				AAGATTGTGGCGTGTTTGTTG	0.458			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial				T	50785592	C	T	50785592	2	4	74	1	0	0	0	0	0	0	0	1	4143	755	27	1		1	CYLD	16	50785592	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1115727	50785592	39569161	1415	51686											
FAM192A	80011	broad.mit.edu	37	chr16	57188381	57188381	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtggatggaggggccacTcagggaggtgtttccgagag	19	7	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:57188381T>G	uc010vhk.1	-	7	845	c.586A>C	c.(586-588)AGT>CGT	p.S196R	FAM192A_uc002ekz.3_Missense_Mutation_p.S195R|FAM192A_uc002ekv.3_Missense_Mutation_p.S118R|FAM192A_uc002ekw.3_Missense_Mutation_p.S195R|FAM192A_uc002ekx.3_Missense_Mutation_p.S195R|FAM192A_uc002eky.3_Missense_Mutation_p.S195R	NM_024946	NP_079222	Q9GZU8	F192A_HUMAN	NEFA-interacting nuclear protein NIP30	196						nucleus					0						GAGGGGCCACTCAGGGAGGTG	0.557													G	57188381	T	G	57188381	3	3	74	1	0	0	0	0	1	0	0	0	5523	1551	54	5	182	5	FAM192A	16	57188381	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	6402789	57188381	33166372	1416	51687											
KIFC3	3801	broad.mit.edu	37	chr16	57794222	57794222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcctggcttgaccaggacCcaagctctgccctgcgtagc	11	16	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:57794222C>T	uc002emp.2	-	17	2536	c.2339G>A	c.(2338-2340)GGG>GAG	p.G780E	KIFC3_uc010vhw.1_Missense_Mutation_p.G678E|KIFC3_uc002emn.2_RNA|KIFC3_uc002emm.2_Missense_Mutation_p.G641E|KIFC3_uc010vhx.1_Missense_Mutation_p.G638E|KIFC3_uc010cdf.2_Missense_Mutation_p.G641E|KIFC3_uc002emo.3_Missense_Mutation_p.G641E|KIFC3_uc010vhy.1_Missense_Mutation_p.G722E|KIFC3_uc002emq.2_Missense_Mutation_p.G780E|KIFC3_uc010vhz.1_Missense_Mutation_p.G802E	NM_005550	NP_005541	Q9BVG8	KIFC3_HUMAN	kinesin family member C3 isoform 1	780					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			central_nervous_system(2)|ovary(1)	3		all_neural(199;0.224)				TGACCAGGACCCAAGCTCTGC	0.617													T	57794222	C	T	57794222	3	4	74	1	0	0	0	0	1	0	0	0	8314	623	22	4	183	4	KIFC3	16	57794222	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	605841	57794222	32560531	1417	51688											
MMP15	4324	broad.mit.edu	37	chr16	58073833	58073833	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcgatggaggcggtgcgCagggccttccgcgtgtggga	18	11	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:58073833C>T	uc002ena.2	+	4	1468	c.495C>T	c.(493-495)CGC>CGT	p.R165R		NM_002428	NP_002419	P51511	MMP15_HUMAN	matrix metalloproteinase 15 preproprotein	165	Extracellular (Potential).				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			central_nervous_system(2)|breast(1)	3						AGGCGGTGCGCAGGGCCTTCC	0.657													T	58073833	C	T	58073833	2	4	74	1	0	0	0	0	0	0	0	1	9654	697	25	2		2	MMP15	16	58073833	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	279611	58073833	32280920	1418	51689											
CDH8	1006	broad.mit.edu	37	chr16	61689541	61689541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagtggaggatttccactaTcactgattatgattggtaaa	9	6	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:61689541T>C	uc002eog.1	-	11	1991	c.1739A>G	c.(1738-1740)GAT>GGT	p.D580G		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	580	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATTTCCACTATCACTGATTAT	0.423													C	61689541	T	C	61689541	3	2	74	1	0	0	0	0	1	0	0	0	3116	1435	50	3	668	3	CDH8	16	61689541	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	3615708	61689541	28665212	1419	51690											
CDH11	1009	broad.mit.edu	37	chr16	65026835	65026835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacctgtctgtgcttccaccGaaaaatagggttgtccttcg	9	11	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:65026835G>A	uc002eoi.2	-	5	1060	c.626C>T	c.(625-627)TCG>TTG	p.S209L	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.S209L|CDH11_uc010vin.1_Missense_Mutation_p.S83L	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	209	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGCTTCCACCGAAAAATAGGG	0.428			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			A	65026835	G	A	65026835	3	1	74	1	0	0	0	0	1	0	0	0	3097	1059	37	1	1800	1	CDH11	16	65026835	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	3337294	65026835	25327918	1420	51691											
CDH11	1009	broad.mit.edu	37	chr16	65032614	65032614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgcctgagccatcaacGtgtactgggctctctcttct	8	16	4	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:65032614G>A	uc002eoi.2	-	4	808	c.374C>T	c.(373-375)ACG>ATG	p.T125M	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.T125M|CDH11_uc010vin.1_Translation_Start_Site|CDH11_uc010vio.1_Missense_Mutation_p.T125M	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	125	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGCCATCAACGTGTACTGGGC	0.527			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			A	65032614	G	A	65032614	3	1	74	1	0	0	0	0	1	0	0	0	3097	1145	40	1	2056	1	CDH11	16	65032614	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	5779	65032614	25322139	1421	51692											
CDH5	1003	broad.mit.edu	37	chr16	66424452	66424452	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggacgctttcaccattgagAcaaaccccgcccacaacgag	8	15	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:66424452A>G	uc002eom.3	+	6	1084	c.928A>G	c.(928-930)ACA>GCA	p.T310A	CDH5_uc002eon.1_Missense_Mutation_p.T310A	NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	310	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CACCATTGAGACAAACCCCGC	0.557													G	66424452	A	G	66424452	3	3	74	1	0	0	0	0	1	0	0	0	3113	275	10	3	946	3	CDH5	16	66424452	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1391838	66424452	23930301	1422	51693											
TPPP3	51673	broad.mit.edu	37	chr16	67425007	67425007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagccatgtctgtgctcGctgccatgccaccctataga	9	16	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:67425007G>A	uc002esz.2	-	1	843	c.8C>T	c.(7-9)GCG>GTG	p.A3V	TPPP3_uc002eta.2_Missense_Mutation_p.A3V|TPPP3_uc002etb.2_Missense_Mutation_p.A3V	NM_016140	NP_057224	Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family	3					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		GTCTGTGCTCGCTGCCATGCC	0.597													A	67425007	G	A	67425007	3	1	74	1	0	0	0	0	1	0	0	0	16412	1087	38	1	534	1	TPPP3	16	67425007	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1000555	67425007	22929746	1423	51694											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67472918	67472918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctgttcatagtcgtcagCccgagccagctgcgccaggc	12	15	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:67472918C>T	uc002ete.1	-	6	872	c.772G>A	c.(772-774)GCT>ACT	p.A258T	ATP6V0D1_uc010vjo.1_Missense_Mutation_p.A299T|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.A181T	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	258					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		TAGTCGTCAGCCCGAGCCAGC	0.602													T	67472918	C	T	67472918	3	4	74	1	0	0	0	0	1	0	0	0	1173	739	26	2	295	2	ATP6V0D1	16	67472918	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	47911	67472918	22881835	1424	51695											
GFOD2	81577	broad.mit.edu	37	chr16	67709072	67709072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggctcataggttgttccGctgaagtgcctcacacaggt	12	11	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:67709072G>A	uc002eub.2	-	3	1439	c.1144C>T	c.(1144-1146)CGG>TGG	p.R382W	GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.R277W	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain	382						proteinaceous extracellular matrix	binding|oxidoreductase activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		AGGTTGTTCCGCTGAAGTGCC	0.627													A	67709072	G	A	67709072	3	1	74	1	0	0	0	0	1	0	0	0	6344	1086	38	1	17	1	GFOD2	16	67709072	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	236154	67709072	22645681	1425	51696											
THAP11	57215	broad.mit.edu	37	chr16	67877120	67877120	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accgcagggctggaggctgcCgagtgccctatgggccccca	15	15	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:67877120C>A	uc002euo.2	+	1	908	c.663C>A	c.(661-663)GCC>GCA	p.A221A	CENPT_uc002eun.3_Intron	NM_020457	NP_065190	Q96EK4	THA11_HUMAN	THAP domain containing 11	221	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		TGGAGGCTGCCGAGTGCCCTA	0.652													A	67877120	C	A	67877120	2	1	74	1	0	0	0	0	0	0	0	1	15840	639	23	5		5	THAP11	16	67877120	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	168048	67877120	22477633	1426	51697											
SLC7A6	9057	broad.mit.edu	37	chr16	68330642	68330642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcgggattgccctttctgGagtccctttctacttcatgg	9	12	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:68330642G>A	uc002evt.1	+	11	1691	c.1382G>A	c.(1381-1383)GGA>GAA	p.G461E	SLC7A6_uc002evu.1_Missense_Mutation_p.G461E|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA	NM_001076785	NP_001070253	Q92536	YLAT2_HUMAN	solute carrier family 7 (cationic amino acid	461	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		GCCCTTTCTGGAGTCCCTTTC	0.507													A	68330642	G	A	68330642	3	1	74	1	0	0	0	0	1	0	0	0	14701	1174	41	4	1412	4	SLC7A6	16	68330642	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	453522	68330642	22024111	1427	51698											
COG8	84342	broad.mit.edu	37	chr16	69368940	69368940	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacccatggcagggggcagCagtgggtcctcgtctgagaa	15	11	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:69368940C>T	uc002ewy.2	-	3	968	c.897G>A	c.(895-897)CTG>CTA	p.L299L	COG8_uc002ewz.3_Silent_p.L299L	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	299					protein transport	Golgi membrane|Golgi transport complex				ovary(1)	1						CAGGGGGCAGCAGTGGGTCCT	0.532													T	69368940	C	T	69368940	2	4	74	1	0	0	0	0	0	0	0	1	3664	697	25	2		2	COG8	16	69368940	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1038298	69368940	20985813	1428	51699											
FTSJD1	55783	broad.mit.edu	37	chr16	71318132	71318132	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctgctcatcctgaaggcaCtcagtaaggctacacaactc	7	14	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:71318132C>G	uc010cga.2	-	3	2098	c.1692G>C	c.(1690-1692)GAG>GAC	p.E564D	FTSJD1_uc002ezy.3_Missense_Mutation_p.E564D|FTSJD1_uc002ezz.3_Missense_Mutation_p.E564D	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN	FtsJ methyltransferase domain containing 1	564						integral to membrane	methyltransferase activity|nucleic acid binding			skin(1)	1						CCTGAAGGCACTCAGTAAGGC	0.408													G	71318132	C	G	71318132	3	3	74	1	0	0	0	0	1	0	0	0	6090	564	20	5	624	5	FTSJD1	16	71318132	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1949192	71318132	19036621	1429	51700											
MARVELD3	91862	broad.mit.edu	37	chr16	71674726	71674726	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagagaggctctatgcccgCaagggtctcacctggatgga	14	10	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:71674726C>T	uc002fau.2	+	3	1092	c.1029C>T	c.(1027-1029)CGC>CGT	p.R343R	PHLPP2_uc002fav.2_RNA|MARVELD3_uc010cge.2_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to membrane				skin(1)	1		Ovarian(137;0.125)				TCTATGCCCGCAAGGGTCTCA	0.587													T	71674726	C	T	71674726	2	4	74	1	0	0	0	0	0	0	0	1	9319	697	25	2		2	MARVELD3	16	71674726	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	356594	71674726	18680027	1430	51701											
PHLPP2	23035	broad.mit.edu	37	chr16	71683921	71683921	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccagcatccgggtacaGcaggttaccccattcacttt	8	15	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:71683921G>A	uc002fax.2	-	18	2850	c.2844C>T	c.(2842-2844)TGC>TGT	p.C948C	PHLPP2_uc002fav.2_Intron|PHLPP2_uc010cgf.2_Silent_p.C881C	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	948	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						TCCGGGTACAGCAGGTTACCC	0.483													A	71683921	G	A	71683921	2	1	74	1	0	0	0	0	0	0	0	1	11855	963	34	2		2	PHLPP2	16	71683921	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	9195	71683921	18670832	1431	51702											
DHX38	9785	broad.mit.edu	37	chr16	72137666	72137666	+	Frame_Shift_Del	DEL	G	G	-													aagagagtcagtgaagagatGgggggaaaccttggcgagga							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:72137666delG	uc002fcb.2	+	13	2158	c.1803delG	c.(1801-1803)ATGfs	p.M601fs	DHX38_uc010vmp.1_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	601	Helicase ATP-binding.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)				GTGAAGAGATGGGGGGAAACC	0.547													-	72137666	G	-	72137666	7	5	74	1	0	1	0	1	0	0	0	0	4511	1348	47	0	1849	0	DHX38	16	72137666	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	453745	72137666	18217087	1432	51703											
ZFHX3	463	broad.mit.edu	37	chr16	72993867	72993867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcggtgctctccgcgaggcGctcattgaagggggccctca	15	14	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:72993867G>A	uc002fck.2	-	2	851	c.178C>T	c.(178-180)CGC>TGC	p.R60C	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	60					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				TCCGCGAGGCGCTCATTGAAG	0.667													A	72993867	G	A	72993867	3	1	74	1	0	0	0	0	1	0	0	0	17631	1087	38	1	10969	1	ZFHX3	16	72993867	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	856201	72993867	17360886	1433	51704											
GLG1	2734	broad.mit.edu	37	chr16	74519763	74519763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacaagcttcattcaaagctCgatcaatgcggtaatctgca	7	11	4	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:74519763C>T	uc002fcy.3	-	9	1552	c.1502G>A	c.(1501-1503)CGA>CAA	p.R501Q	GLG1_uc002fcx.2_Missense_Mutation_p.R501Q|GLG1_uc002fcw.3_Missense_Mutation_p.R490Q|GLG1_uc002fcz.3_Intron	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	501	Extracellular (Potential).|Cys-rich GLG1 7.					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2						ATTCAAAGCTCGATCAATGCG	0.388													T	74519763	C	T	74519763	3	4	74	1	0	0	0	0	1	0	0	0	6436	884	31	1	2189	1	GLG1	16	74519763	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1525896	74519763	15834990	1434	51705											
DYNLRB2	83657	broad.mit.edu	37	chr16	80577198	80577198	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtggaggaaaccttaaagaGgatccagagtcataaagggg	15	5	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:80577198G>T	uc002ffo.2	+	4	149	c.29G>T	c.(28-30)AGG>ATG	p.R10M	DYNLRB2_uc002ffp.2_RNA|DYNLRB2_uc002ffq.2_RNA	NM_130897	NP_570967	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2	10					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity				0						ACCTTAAAGAGGATCCAGAGT	0.428													T	80577198	G	T	80577198	3	4	74	1	0	0	0	0	1	0	0	0	4851	1000	35	5	35	5	DYNLRB2	16	80577198	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	6057435	80577198	9777555	1435	51706											
HSDL1	83693	broad.mit.edu	37	chr16	84163278	84163278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagaaagttgctgggtgCtgtcatgctggtggctacat	15	7	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:84163278C>T	uc002fhk.2	-	5	953	c.769G>A	c.(769-771)GCA>ACA	p.A257T	HSDL1_uc010vnv.1_Missense_Mutation_p.A202T	NM_031463	NP_113651	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1 isoform a	257						mitochondrion	oxidoreductase activity|protein binding				0						TTGCTGGGTGCTGTCATGCTG	0.453													T	84163278	C	T	84163278	3	4	74	1	0	0	0	0	1	0	0	0	7393	797	28	2	231	2	HSDL1	16	84163278	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3586080	84163278	6191475	1436	51707											
TAF1C	9013	broad.mit.edu	37	chr16	84213037	84213037	+	Frame_Shift_Del	DEL	G	G	-													ctaggcctgactcgggtgcaGggggtggctctgccgcaggg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:84213036_84213036AG>A	uc002fhn.3	-	13	2363	c.2121_2121CT>T	c.(2119-2121)cctfs	p.P707fs	TAF1C_uc010vnz.2_Frame_Shift_Del_p.P375fs|TAF1C_uc002fho.3_Frame_Shift_Del_p.P230fs|TAF1C_uc010voa.2_Frame_Shift_Del_p.P375fs|TAF1C_uc002fhm.3_Frame_Shift_Del_p.P613fs|TAF1C_uc010vnx.2_Frame_Shift_Del_p.P681fs|TAF1C_uc010vny.2_Frame_Shift_Del_p.P298fs	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	707					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	p.P707fs*7(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						ACTCGGGTGCAGGGGGTGGCT	0.706													-	84213037	G	-	84213037	7	5	74	1	0	1	0	1	0	0	0	0	15518	1000	35	0	493	0	TAF1C	16	84213037	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	49759	84213037	6141716	1437	51708											
KCNG4	93107	broad.mit.edu	37	chr16	84270675	84270675	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctggaaggacagcgcGcacatctcctgcagaagcac	10	15	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:84270675G>A	uc010voc.1	-	2	538	c.417C>T	c.(415-417)TGC>TGT	p.C139C	KCNG4_uc002fhu.1_Silent_p.C139C	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	139	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						AGGACAGCGCGCACATCTCCT	0.652													A	84270675	G	A	84270675	2	1	74	1	0	0	0	0	0	0	0	1	8030	1079	38	1		1	KCNG4	16	84270675	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	57638	84270675	6084078	1438	51709											
KIAA1609	57707	broad.mit.edu	37	chr16	84514303	84514303	+	Frame_Shift_Del	DEL	C	C	-													agcccaaagtaattgtgctgCccccccataccctgcaaagg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:84514302_84514302GC>G	uc002fib.3	-	6	1197	c.1090_1090GC>C	c.(1090-1092)cagfs	p.Q364fs	KIAA1609_uc010vod.2_Frame_Shift_Del_p.Q337fs	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	Homo sapiens KIAA1609 (KIAA1609), mRNA.	364	TLD.						protein binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(2)	18						TAATTGTGCTGCCCCCCCATA	0.547													-	84514303	C	-	84514303	7	5	74	1	0	1	0	1	0	0	0	0	8247	726	26	0	289	0	KIAA1609	16	84514303	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	243628	84514303	5840450	1439	51710											
USP10	9100	broad.mit.edu	37	chr16	84812550	84812550	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggccattacactacagaCgtcttccagatcggtctgaa	10	12	2	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:84812550C>T	uc002fii.2	+	14	2401	c.2259C>T	c.(2257-2259)GAC>GAT	p.D753D	USP10_uc010voe.1_Silent_p.D757D|USP10_uc010vof.1_Silent_p.D315D|USP10_uc002fij.2_Silent_p.D279D	NM_005153	NP_005144	Q14694	UBP10_HUMAN	ubiquitin specific protease 10	753					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						ACACTACAGACGTCTTCCAGA	0.557													T	84812550	C	T	84812550	2	4	74	1	0	0	0	0	0	0	0	1	17038	535	19	1		1	USP10	16	84812550	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	298247	84812550	5542203	1440	51711											
KIAA0182	23199	broad.mit.edu	37	chr16	85682290	85682291	+	Frame_Shift_Ins	INS	-	-	C													ggccacagcgtgcccagcacINScccccccgtggtgaccatcg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:85682289_85682290A>AC	uc002fix.3	+	2	432_433	c.358_359A>AC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688													C	85682291	-	C	85682290	7	5	74	1	0	1	1	0	0	0	0	0	8159	507	18	0	369	0	KIAA0182	16	85682290	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	869740	85682290	4672463	1441	51712											
ZCCHC14	23174	broad.mit.edu	37	chr16	87445164	87445164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctgtttgcagtcctgggCgcggtgaccagtggccccgc	16	14	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:87445164C>T	uc002fjz.1	-	12	2779	c.2752G>A	c.(2752-2754)GCC>ACC	p.A918T	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.A694T	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	918	CCHC-type.				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CAGTCCTGGGCGCGGTGACCA	0.612													T	87445164	C	T	87445164	3	4	74	1	0	0	0	0	1	0	0	0	17580	768	27	1	105	1	ZCCHC14	16	87445164	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1762874	87445164	2909589	1442	51713											
BANP	54971	broad.mit.edu	37	chr16	88066731	88066731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagagccgatgatgagcacCccacctcctgccagcgagct	10	16	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:88066731C>T	uc002fkr.2	+	9	1277	c.1053C>T	c.(1051-1053)ACC>ACT	p.T351T	BANP_uc002fkp.2_Silent_p.T321T|BANP_uc002fkq.2_Silent_p.T321T|BANP_uc010vow.1_Silent_p.T359T|BANP_uc002fks.3_Silent_p.T320T|BANP_uc002fko.1_Silent_p.T257T|BANP_uc010vov.1_Silent_p.T326T	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein isoform b	352	DNA-binding (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0				BRCA - Breast invasive adenocarcinoma(80;0.00551)		TGATGAGCACCCCACCTCCTG	0.652													T	88066731	C	T	88066731	2	4	74	1	0	0	0	0	0	0	0	1	1310	610	22	4		4	BANP	16	88066731	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	621567	88066731	2288022	1443	51714											
CDT1	81620	broad.mit.edu	37	chr16	88874589	88874589	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggctcagcctccaccgcaTccgcaccgacacctacgtca	7	20	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:88874589T>C	uc002flu.2	+	10	1598	c.1544T>C	c.(1543-1545)ATC>ACC	p.I515T		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor	515					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CTCCACCGCATCCGCACCGAC	0.667													C	88874589	T	C	88874589	3	2	74	1	0	0	0	0	1	0	0	0	3180	1435	50	3	1582	3	CDT1	16	88874589	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	807858	88874589	1480164	1444	51715											
ANKRD11	29123	broad.mit.edu	37	chr16	89349356	89349356	+	Frame_Shift_Del	DEL	T	T	-													tgcttttcaaagactttctcTtttttgtctctccccgcgtc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:89349356delT	uc002fmx.1	-	9	4055	c.3594delA	c.(3592-3594)AAAfs	p.K1198fs	ANKRD11_uc002fmy.1_Frame_Shift_Del_p.K1198fs|ANKRD11_uc002fnc.1_Frame_Shift_Del_p.K1198fs|ANKRD11_uc002fnb.1_Frame_Shift_Del_p.K1155fs	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1198	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGACTTTCTCTTTTTTGTCTC	0.517													-	89349356	T	-	89349356	7	5	74	1	0	1	0	1	0	0	0	0	639	1606	56	0	4417	0	ANKRD11	16	89349356	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	474767	89349356	1005397	1445	51716											
ANKRD11	29123	broad.mit.edu	37	chr16	89349686	89349688	+	In_Frame_Del	DEL	CTC	CTC	-													atgatcccagggaaagccttCtccttcttctctttcccttg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:89349686_89349688delCTC	uc002fmx.1	-	9	3723_3725	c.3262_3264delGAG	c.(3262-3264)GAGdel	p.E1088del	ANKRD11_uc002fmy.1_In_Frame_Del_p.E1088del|ANKRD11_uc002fnc.1_In_Frame_Del_p.E1088del|ANKRD11_uc002fnb.1_In_Frame_Del_p.E1045del	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1088	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGAAAGCCTTCTCCTTCTTCTCT	0.399													-	89349688	CTC	-	89349686	7	5	74	1	0	1	0	1	0	0	0	0	639	912	32	0	4747	0	ANKRD11	16	89349686	In_Frame_Del	DEL	CTC	TCGA-BR-8361-01A-11D-2340-08	330	89349686	1005067	1446	51717											
FANCA	2175	broad.mit.edu	37	chr16	89831345	89831346	+	Frame_Shift_Del	DEL	AG	AG	-													tcggaaggttctgtgtgtccAgagagagagggcagctctct							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:89831344_89831345CAG>C	uc002fou.1	-	27	2773_2774	c.2731_2732CTG>G	c.(2731-2733)tggfs	p.W911fs	FANCA_uc010vpn.1_Frame_Shift_Del_p.W911fs|FANCA_uc010vpo.2_Frame_Shift_Del_p.W40fs	NM_000135	NP_000126	O15360	FANCA_HUMAN	Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.	911					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TCTGTGTGTCCAGAGAGAGAGG	0.554			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				-	89831346	AG	-	89831345	7	5	74	1	0	1	0	1	0	0	0	0	5662	188	7	0	1700	0	FANCA	16	89831345	Frame_Shift_Del	DEL	AG	TCGA-BR-8361-01A-11D-2340-08	481659	89831345	523408	1447	51718											
FANCA	2175	broad.mit.edu	37	chr16	89833613	89833614	+	Frame_Shift_Ins	INS	-	-	AG													tgactgggaagaaaacttgcINSagagagagtaagaaattgct							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:89833613_89833614insAG	uc002fou.1	-	27	2578_2579	c.2536_2537insCT	c.(2536-2538)TGCfs	p.C846fs	FANCA_uc010vpn.1_Frame_Shift_Ins_p.C846fs|FANCA_uc010vpo.1_5'Flank	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	846					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGAAAACTTGCAGAGAGAGTAA	0.347			D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				AG	89833614	-	AG	89833613	7	5	74	1	0	1	1	0	0	0	0	0	5662	710	25	0	1898	0	FANCA	16	89833613	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	2268	89833613	521140	1448	51719	213	2									
FANCA	2175	broad.mit.edu	37	chr16	89833614	89833615	+	Frame_Shift_Ins	INS	-	-	AG													gactgggaagaaaacttgcaINSgagagagtaagaaattgctg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:89833613_89833614C>CAG	uc002fou.1	-	26	2578_2579	c.2536_2537G>CTG	c.(2536-2538)tgcfs	p.C846fs	FANCA_uc010vpn.1_Frame_Shift_Ins_p.C846fs|FANCA_uc010vpo.2_5'Flank	NM_000135	NP_000126	O15360	FANCA_HUMAN	Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.	846					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGAAAACTTGCAGAGAGAGTAA	0.347			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				AG	89833615	-	AG	89833614	7	5	74	1	0	1	1	0	0	0	0	0	5662	188	7	0	1899	0	FANCA	16	89833614	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1	89833614	521139	1449	51720	213	2									
FANCA	2175	broad.mit.edu	37	chr16	89871710	89871710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagcatggccctggcgacGtcagcatgctggcaggatgc	15	11	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr16:89871710G>A	uc002fou.1	-	7	729	c.687C>T	c.(685-687)GAC>GAT	p.D229D	FANCA_uc010vpn.1_Silent_p.D229D|FANCA_uc002fov.1_Silent_p.D212D|FANCA_uc002fow.1_Silent_p.D229D|FANCA_uc002fox.1_Silent_p.D229D|FANCA_uc010ciu.1_Silent_p.D197D|FANCA_uc002foy.2_Silent_p.D229D	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	229					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CCCTGGCGACGTCAGCATGCT	0.522			D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				A	89871710	G	A	89871710	2	1	74	1	0	0	0	0	0	0	0	1	5662	1136	40	1		1	FANCA	16	89871710	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	38096	89871710	483043	1450	51721											
SLC43A2	124935	broad.mit.edu	37	chr17	1486601	1486601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtgatcttctggatctgcCggtcccgcttcttctttttc	8	12	5	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:1486601C>T	uc002fsv.2	-	11	1336	c.1247G>A	c.(1246-1248)CGG>CAG	p.R416Q	SLC43A2_uc002fsu.2_Missense_Mutation_p.R420Q	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	solute carrier family 43, member 2	416					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		CTGGATCTGCCGGTCCCGCTT	0.607													T	1486601	C	T	1486601	3	4	74	1	0	0	0	0	1	0	0	0	14633	652	23	1	478	1	SLC43A2	17	1486601	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08		1486601	79708609	1451	51722											
RTN4RL1	146760	broad.mit.edu	37	chr17	1840323	1840324	+	Frame_Shift_Ins	INS	-	-	GC													tgcagccattcccacagggaINSgcgcgcgcgacaaccacagt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:1840323_1840324insGC	uc002ftp.2	-	2	811_812	c.792_793insGC	c.(790-795)CGCTCCfs	p.R264fs		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1 precursor	264_265	LRRCT.				axon regeneration	anchored to plasma membrane	receptor activity				0						TCCCACAGGGAGCGCGCGCGAC	0.703													GC	1840324	-	GC	1840323	7	5	74	1	0	1	1	0	0	0	0	0	13731	304	11	0	536	0	RTN4RL1	17	1840323	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	353722	1840323	79354887	1452	51723	214	2									
RTN4RL1	146760	broad.mit.edu	37	chr17	1840324	1840325	+	Frame_Shift_Ins	INS	-	-	GC													gcagccattcccacagggagINScgcgcgcgacaaccacagtc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:1840323_1840324A>AGC	uc002ftp.3	-	1	811_812	c.792_793T>GCT	c.(790-795)cgctccfs	p.R264fs		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	Homo sapiens reticulon 4 receptor-like 1 (RTN4RL1), mRNA.	264	LRRCT.				axon regeneration	anchored to plasma membrane	receptor activity	p.A263T(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TCCCACAGGGAGCGCGCGCGAC	0.703													GC	1840325	-	GC	1840324	7	5	74	1	0	1	1	0	0	0	0	0	13731	958	34	0	537	0	RTN4RL1	17	1840324	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1	1840324	79354886	1453	51724	214	2									
TRPV1	7442	broad.mit.edu	37	chr17	3470151	3470151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactcttgaagacctcagcGtcctctggcttcagagaccc	10	14	4	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:3470151G>A	uc010vrr.1	-	15	3005	c.2478C>T	c.(2476-2478)GAC>GAT	p.D826D	TRPV1_uc010vro.1_Silent_p.D837D|TRPV1_uc010vrp.1_Silent_p.D766D|TRPV1_uc010vrq.1_Silent_p.D824D|TRPV1_uc010vrs.1_Silent_p.D826D|TRPV1_uc010vrt.1_Silent_p.D826D|TRPV1_uc010vru.1_Silent_p.D826D	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	826	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	AGACCTCAGCGTCCTCTGGCT	0.577													A	3470151	G	A	3470151	2	1	74	1	0	0	0	0	0	0	0	1	16592	1136	40	1		1	TRPV1	17	3470151	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1629827	3470151	77725059	1454	51725											
TAX1BP3	30851	broad.mit.edu	37	chr17	3567173	3567173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccatggtcatgtcccagcCgttcacctggccccaggaga	11	15	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:3567173C>T	uc002fwc.2	-	4	397	c.244G>A	c.(244-246)GGC>AGC	p.G82S	P2RX5_uc002fwd.2_RNA|TAX1BP3_uc002fwe.1_3'UTR	NM_014604	NP_055419	O14907	TX1B3_HUMAN	Tax1 binding protein 3	82	PDZ.				activation of Cdc42 GTPase activity|negative regulation of protein localization at cell surface|negative regulation of Wnt receptor signaling pathway|Rho protein signal transduction|Wnt receptor signaling pathway	cytoplasm|nucleus	protein C-terminus binding				0				COAD - Colon adenocarcinoma(5;0.0761)		ATGTCCCAGCCGTTCACCTGG	0.652													T	3567173	C	T	3567173	3	4	74	1	0	0	0	0	1	0	0	0	15592	652	23	1	134	1	TAX1BP3	17	3567173	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	97022	3567173	77628037	1455	51726											
TAX1BP3	30851	broad.mit.edu	37	chr17	3567980	3567980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaccccctcaccttgtccGtcttgtcttcagagaaggga	9	14	4	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:3567980G>A	uc002fwc.2	-	2	305	c.152C>T	c.(151-153)ACG>ATG	p.T51M	P2RX5_uc002fwd.2_RNA|TAX1BP3_uc002fwe.1_Missense_Mutation_p.T51M	NM_014604	NP_055419	O14907	TX1B3_HUMAN	Tax1 binding protein 3	51	PDZ.				activation of Cdc42 GTPase activity|negative regulation of protein localization at cell surface|negative regulation of Wnt receptor signaling pathway|Rho protein signal transduction|Wnt receptor signaling pathway	cytoplasm|nucleus	protein C-terminus binding				0				COAD - Colon adenocarcinoma(5;0.0761)		CACCTTGTCCGTCTTGTCTTC	0.567													A	3567980	G	A	3567980	3	1	74	1	0	0	0	0	1	0	0	0	15592	1145	40	1	234	1	TAX1BP3	17	3567980	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	807	3567980	77627230	1456	51727											
KIF1C	10749	broad.mit.edu	37	chr17	4923869	4923869	+	Frame_Shift_Del	DEL	C	C	-													ctggaacgggaacgaggggtCcccccacccccaggaccgcc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:4923868_4923868TC>T	uc002gan.2	+	19	2189	c.1832_1832TC>T	c.(1831-1833)gtcfs	p.V611fs		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	611					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GAACGAGGGGTCCCCCCACCC	0.587													-	4923869	C	-	4923869	7	5	74	1	0	1	0	1	0	0	0	0	8285	842	30	0	1903	0	KIF1C	17	4923869	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	1355889	4923869	76271341	1457	51728											
TNK1	8711	broad.mit.edu	37	chr17	7287072	7287072	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgggtaggtcccgaaggcccGatgggcacagaactggggga	18	10	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:7287072G>A	uc002ggi.3	+	5	631	c.471G>A	c.(469-471)CCG>CCA	p.P157P	TNK1_uc002ggj.3_Silent_p.P157P|TNK1_uc010cmf.2_RNA|TNK1_uc002ggk.3_5'Flank	NM_003985	NP_003976	Q13470	TNK1_HUMAN	tyrosine kinase, non-receptor, 1	157	Protein kinase.				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(122;0.157)				CCGAAGGCCCGATGGGCACAG	0.627													A	7287072	G	A	7287072	2	1	74	1	0	0	0	0	0	0	0	1	16314	1045	37	1		1	TNK1	17	7287072	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2363203	7287072	73908138	1458	51729											
PLSCR3	57048	broad.mit.edu	37	chr17	7296968	7296968	+	Frame_Shift_Del	DEL	G	G	-													acccctggcagtggcaagaaGggggcagcagaccccaaggc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:7296968delG	uc002ggm.1	-	3	404	c.195delC	c.(193-195)CCCfs	p.P65fs	PLSCR3_uc002ggl.2_Frame_Shift_Del_p.P65fs|PLSCR3_uc002ggq.1_5'UTR|PLSCR3_uc002ggn.1_Frame_Shift_Del_p.P65fs|PLSCR3_uc002ggo.1_Frame_Shift_Del_p.P65fs|PLSCR3_uc002ggp.1_5'UTR|PLSCR3_uc002ggr.1_Frame_Shift_Del_p.P65fs|PLSCR3_uc010cmg.1_Frame_Shift_Del_p.P65fs	NM_020360	NP_065093	Q9NRY6	PLS3_HUMAN	phospholipid scramblase 3	65	Cytoplasmic (By similarity).|SH3-binding 3 (Potential).				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding				0		Prostate(122;0.173)				GTGGCAAGAAGGGGGCAGCAG	0.706													-	7296968	G	-	7296968	7	5	74	1	0	1	0	1	0	0	0	0	12111	987	35	0	716	0	PLSCR3	17	7296968	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	9896	7296968	73898242	1459	51730											
ZBTB4	57659	broad.mit.edu	37	chr17	7366256	7366256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccactgccccccacactgGcacctccagcagctccagcc	7	23	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:7366256G>A	uc002ghc.3	-	4	2295	c.2045C>T	c.(2044-2046)GCC>GTC	p.A682V	ZBTB4_uc002ghd.3_Missense_Mutation_p.A682V	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	682					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CCCCACACTGGCACCTCCAGC	0.612													A	7366256	G	A	7366256	3	1	74	1	0	0	0	0	1	0	0	0	17538	1203	42	2	1000	2	ZBTB4	17	7366256	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	69288	7366256	73828954	1460	51731											
TP53	7157	broad.mit.edu	37	chr17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcgctcatggtgggggCagcgcctcacaacctccgtc	13	15	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:7578403C>T	uc002gim.2	-	5	721	c.527G>A	c.(526-528)TGC>TAC	p.C176Y	TP53_uc002gig.1_Missense_Mutation_p.C176Y|TP53_uc002gih.2_Missense_Mutation_p.C176Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44Y|TP53_uc010cng.1_Missense_Mutation_p.C44Y|TP53_uc002gii.1_Missense_Mutation_p.C44Y|TP53_uc010cnh.1_Missense_Mutation_p.C176Y|TP53_uc010cni.1_Missense_Mutation_p.C176Y|TP53_uc002gij.2_Missense_Mutation_p.C176Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83Y|TP53_uc002gio.2_Missense_Mutation_p.C44Y|TP53_uc010vug.1_Missense_Mutation_p.C137Y	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	176	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176F(102)|p.C176Y(56)|p.C176S(19)|p.C176W(11)|p.C176R(8)|p.C176fs*71(7)|p.0?(7)|p.C176*(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176G(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.C83Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C176fs*6(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGTGGGGGCAGCGCCTCAC	0.652		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7578403	C	T	7578403	3	4	74	1	0	0	0	0	1	0	0	0	16378	710	25	2	771	2	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	212147	7578403	73616807	1461	51732											
EFNB3	1949	broad.mit.edu	37	chr17	7612702	7612702	+	Frame_Shift_Del	DEL	G	G	-													aggggagggtctctgggcctGgggggtggaggtgggatggg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:7612702delG	uc002gis.2	+	5	1228	c.831delG	c.(829-831)CTGfs	p.L277fs		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	ephrin-B3 precursor	277	Cytoplasmic (Potential).				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			ovary(1)	1		all_cancers(10;1.14e-06)|Prostate(122;0.081)				CTCTGGGCCTGGGGGGTGGAG	0.711													-	7612702	G	-	7612702	7	5	74	1	0	1	0	1	0	0	0	0	4957	1335	47	0	849	0	EFNB3	17	7612702	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	34299	7612702	73582508	1462	51733											
DNAH2	146754	broad.mit.edu	37	chr17	7735951	7735951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgggacttggccatgcgtGtggagcagtttgagctgtgg	17	9	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:7735951G>A	uc002giu.1	+	82	12795	c.12781G>A	c.(12781-12783)GTG>ATG	p.V4261M		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	4261					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGCCATGCGTGTGGAGCAGTT	0.582													A	7735951	G	A	7735951	3	1	74	1	0	0	0	0	1	0	0	0	4602	1377	48	4	13107	4	DNAH2	17	7735951	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	123249	7735951	73459259	1463	51734											
MYH10	4628	broad.mit.edu	37	chr17	8383817	8383817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgatccgagcttccagaCgccgcttctcatccagcagc	10	16	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:8383817C>T	uc002gll.2	-	37	5294	c.5198G>A	c.(5197-5199)CGT>CAT	p.R1733H	MYH10_uc002glm.2_Missense_Mutation_p.R1764H|MYH10_uc010cnx.2_Missense_Mutation_p.R1742H	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1733	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						AGCTTCCAGACGCCGCTTCTC	0.572													T	8383817	C	T	8383817	3	4	74	1	0	0	0	0	1	0	0	0	10030	536	19	1	752	1	MYH10	17	8383817	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	647866	8383817	72811393	1464	51735											
WDR16	146845	broad.mit.edu	37	chr17	9503394	9503394	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcttcaggtggatgatgAtgatagctttttctaccttg	10	7	3	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:9503394A>G	uc002gly.2	+	6	716	c.647A>G	c.(646-648)GAT>GGT	p.D216G	WDR16_uc002glz.2_Missense_Mutation_p.D148G|WDR16_uc010coc.2_Missense_Mutation_p.D226G	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN	WD40-repeat protein upregulated in HCC isoform	216						cytoplasm|intracellular membrane-bounded organelle	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						GTGGATGATGATGATAGCTTT	0.289													G	9503394	A	G	9503394	3	3	74	1	0	0	0	0	1	0	0	0	17273	333	12	3	669	3	WDR16	17	9503394	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1119577	9503394	71691816	1465	51736											
GAS7	8522	broad.mit.edu	37	chr17	10101597	10101597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcgccttcccaccagccGccgtccgggacctgcagcag	10	19	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:10101597G>A	uc002gmg.1	-	1	272	c.111C>T	c.(109-111)GGC>GGT	p.G37G		NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	37	SH3.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2						CCCACCAGCCGCCGTCCGGGA	0.721			T	MLL	AML*								A	10101597	G	A	10101597	2	1	74	1	0	0	0	0	0	0	0	1	6250	1074	38	1		1	GAS7	17	10101597	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	598203	10101597	71093613	1466	51737											
MYH2	4620	broad.mit.edu	37	chr17	10426958	10426958	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgctggtgtcctgctccttcTtcagctcctcagccatcatg	8	16	4	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:10426958T>A	uc010coi.2	-	37	5455	c.5327A>T	c.(5326-5328)AAG>ATG	p.K1776M	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.K1776M|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1776	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						CTGCTCCTTCTTCAGCTCCTC	0.493													A	10426958	T	A	10426958	3	1	74	1	0	0	0	0	1	0	0	0	10035	1609	56	5	514	5	MYH2	17	10426958	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	325361	10426958	70768252	1467	51738											
TTC19	54902	broad.mit.edu	37	chr17	15928377	15928377	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgggcatgtgcttagaCgcctgtgctcgctaccttct	10	13	2	1	rs149658292		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:15928377C>T	uc002gph.1	+	8	1104	c.1086C>T	c.(1084-1086)GAC>GAT	p.D362D	TTC19_uc010cox.1_RNA|TTC19_uc002gpk.3_Silent_p.D4D|TTC19_uc002gpj.2_Silent_p.D4D	NM_017775	NP_060245	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	241	TPR 3.				cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGTGCTTAGACGCCTGTGCTC	0.473													T	15928377	C	T	15928377	2	4	74	1	0	0	0	0	0	0	0	1	16683	535	19	1		1	TTC19	17	15928377	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	5501419	15928377	65266833	1468	51739											
NCOR1	9611	broad.mit.edu	37	chr17	15967444	15967444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgctcccgctccttctccCgctcccgttcccgttccctc	5	25	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:15967444C>T	uc002gpo.2	-	35	5399	c.5159G>A	c.(5158-5160)CGG>CAG	p.R1720Q	NCOR1_uc002gpn.2_Missense_Mutation_p.R1736Q|NCOR1_uc002gpm.2_Missense_Mutation_p.R240Q|NCOR1_uc010vwb.1_Missense_Mutation_p.R304Q|NCOR1_uc010coy.2_Missense_Mutation_p.R628Q|NCOR1_uc010vwc.1_Missense_Mutation_p.R530Q	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1720	Interaction with ETO.|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ctccttctcccgctcccgttc	0.383													T	15967444	C	T	15967444	3	4	74	1	0	0	0	0	1	0	0	0	10235	652	23	1	2211	1	NCOR1	17	15967444	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	39067	15967444	65227766	1469	51740											
CCDC144A	9720	broad.mit.edu	37	chr17	16664902	16664902	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgaaacaagaagtagTaaacctcaaaagttatatgg	9	6	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:16664902T>C	uc002gqk.1	+	13	3612	c.3536T>C	c.(3535-3537)GTA>GCA	p.V1179A	CCDC144A_uc002gql.1_Missense_Mutation_p.V695A|LOC162632_uc010cpj.1_RNA	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1179	Potential.										0						CAAGAAGTAGTAAACCTCAAA	0.338													C	16664902	T	C	16664902	3	2	74	1	0	0	0	0	1	0	0	0	2777	1638	57	3	3586	3	CCDC144A	17	16664902	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	697458	16664902	64530308	1470	51741											
MYO15A	51168	broad.mit.edu	37	chr17	18023754	18023754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caacctccagcgcgcgctgtCggccttcggcgcccaccggg	13	19	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:18023754C>T	uc010vxh.1	+	2	1978	c.1640C>T	c.(1639-1641)TCG>TTG	p.S547L		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	547	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CGCGCGCTGTCGGCCTTCGGC	0.721													T	18023754	C	T	18023754	3	4	74	1	0	0	0	0	1	0	0	0	10063	893	31	1	1642	1	MYO15A	17	18023754	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1358852	18023754	63171456	1471	51742											
ALDH3A1	218	broad.mit.edu	37	chr17	19641649	19641649	+	Frame_Shift_Del	DEL	G	G	-													ctctcaccttggccgggctcGgggggtatctgaccttcagg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:19641649delG	uc010cqu.2	-	9	1664	c.1334delC	c.(1333-1335)CCGfs	p.P445fs	ALDH3A1_uc010vzd.1_Frame_Shift_Del_p.P445fs|ALDH3A1_uc002gwj.2_Frame_Shift_Del_p.P445fs|ALDH3A1_uc010cqv.2_Frame_Shift_Del_p.P444fs|ALDH3A1_uc002gwk.2_Frame_Shift_Del_p.P562fs|ALDH3A1_uc002gwl.1_Frame_Shift_Del_p.P372fs	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3A1	445					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(1)|pancreas(1)	2	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GGCCGGGCTCGGGGGGTATCT	0.627													-	19641649	G	-	19641649	7	5	74	1	0	1	0	1	0	0	0	0	497	1116	39	0	35	0	ALDH3A1	17	19641649	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	1617895	19641649	61553561	1472	51743											
IFT20	90410	broad.mit.edu	37	chr17	26657489	26657491	+	In_Frame_Del	DEL	CTT	CTT	-													cttcatcttttcattttctgCttcttttgcaagttgatcaa					rs148686581	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:26657489_26657491delCTT	uc002haw.1	-	3	323_325	c.191_193delAAG	c.(190-195)GAAGCA>GCA	p.E64del	IFT20_uc002hau.1_In_Frame_Del_p.E64del|IFT20_uc002hav.1_In_Frame_Del_p.E90del|IFT20_uc010wae.1_In_Frame_Del_p.E90del|TNFAIP1_uc002hax.1_5'Flank			Q8IY31	IFT20_HUMAN	RecName: Full=Intraflagellar transport protein 20 homolog;          Short=hIFT20;	64					cell projection organization	centriole|cilium|Golgi apparatus|microtubule basal body	protein binding				0	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TCATTTTCTGCTTCTTTTGCAAG	0.379													-	26657491	CTT	-	26657489	7	5	74	1	0	1	0	1	0	0	0	0	7558	797	28	0	269	0	IFT20	17	26657489	In_Frame_Del	DEL	CTT	TCGA-BR-8361-01A-11D-2340-08	7015840	26657489	54537721	1473	51744											
VTN	7448	broad.mit.edu	37	chr17	26697012	26697012	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtaagagcagagctcgtcAcactggcacttcttgtccac	9	12	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:26697012A>G	uc002hbc.2	-	2	269	c.120T>C	c.(118-120)TGT>TGC	p.C40C	SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	vitronectin precursor	40	SMB.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			ovary(1)|kidney(1)	2	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	AGAGCTCGTCACACTGGCACT	0.597													G	26697012	A	G	26697012	2	3	74	1	0	0	0	0	0	0	0	1	17234	157	6	3		3	VTN	17	26697012	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	39523	26697012	54498198	1474	51745											
KIAA0100	9703	broad.mit.edu	37	chr17	26943932	26943932	+	Frame_Shift_Del	DEL	C	C	-													aatgctccttaacagagataCccccaacagggggccgaact							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:26943932delC	uc002hbu.2	-	34	6095	c.5996delG	c.(5995-5997)GGTfs	p.G1999fs	SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_RNA|KIAA0100_uc002hbt.2_Frame_Shift_Del_p.G328fs	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1999						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					AACAGAGATACCCCCAACAGG	0.532													-	26943932	C	-	26943932	7	5	74	1	0	1	0	1	0	0	0	0	8154	507	18	0	735	0	KIAA0100	17	26943932	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	246920	26943932	54251278	1475	51746											
NEK8	284086	broad.mit.edu	37	chr17	27064895	27064895	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccactgtcgtcagtgtatgcCtggggtggtgggctgggcac	17	10	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:27064895C>A	uc002hcp.2	+	7	948	c.948C>A	c.(946-948)GCC>GCA	p.A316A		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	316	RCC1 1.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					CAGTGTATGCCTGGGGTGGTG	0.637													A	27064895	C	A	27064895	2	1	74	1	0	0	0	0	0	0	0	1	10330	668	24	5		5	NEK8	17	27064895	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	120963	27064895	54130315	1476	51747											
CPD	1362	broad.mit.edu	37	chr17	28773000	28773000	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatcagagtttctgagaggActtgtaatgaactatccaca	8	7	2	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:28773000A>G	uc002hfb.1	+	12	2850	c.2835A>G	c.(2833-2835)GGA>GGG	p.G945G	CPD_uc010wbo.1_Silent_p.G698G|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	945	Extracellular (Potential).|Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						TTCTGAGAGGACTTGTAATGA	0.363													G	28773000	A	G	28773000	2	3	74	1	0	0	0	0	0	0	0	1	3798	262	10	3		3	CPD	17	28773000	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1708105	28773000	52422210	1477	51748											
RHOT1	55288	broad.mit.edu	37	chr17	30529800	30529801	+	Frame_Shift_Ins	INS	-	-	A													atttttagtgacaagagataINSaaaagatagacctgcagaaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:30529799_30529800T>TA	uc002hgw.3	+	14	1451_1452	c.1212_1213T>TA	c.(1210-1215)gataaafs	p.D404fs	RHOT1_uc002hgy.3_Frame_Shift_Ins_p.D404fs|RHOT1_uc002hgz.3_Frame_Shift_Ins_p.D404fs|RHOT1_uc002hha.3_Frame_Shift_Ins_p.D277fs|RHOT1_uc010csv.3_Non-coding_Transcript|RHOT1_uc002hgx.3_Frame_Shift_Ins_p.D277fs|RHOT1_uc010wby.2_Frame_Shift_Ins_p.D404fs|RHOT1_uc002hhb.3_Frame_Shift_Ins_p.D383fs|RHOT1_uc002hgv.3_Frame_Shift_Ins_p.D404fs	NM_001033568	NP_001028740	Q8IXI2	MIRO1_HUMAN	Homo sapiens ras homolog gene family, member T1 (RHOT1), transcript variant 1, mRNA.	404					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding	p.I407fs*16(1)		NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TGACAAGAGATAAAAAGATAGA	0.342													A	30529801	-	A	30529800	7	5	74	1	0	1	1	0	0	0	0	0	13343	363	13	0	1271	0	RHOT1	17	30529800	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1756800	30529800	50665410	1478	51749											
TMEM132E	124842	broad.mit.edu	37	chr17	32962034	32962034	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgacttcatgcgggtgggCgatccccgagtggcacacat	14	11	1	1	rs140125786		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:32962034C>T	uc002hif.2	+	8	1963	c.1635C>T	c.(1633-1635)GGC>GGT	p.G545G		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	545	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGCGGGTGGGCGATCCCCGAG	0.612													T	32962034	C	T	32962034	2	4	74	1	0	0	0	0	0	0	0	1	16045	755	27	1		1	TMEM132E	17	32962034	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2432234	32962034	48233176	1479	51750											
TMEM132E	124842	broad.mit.edu	37	chr17	32964652	32964652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcctgccgctgcccaccGgcttcctgcaggtgccacgg	11	18	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:32964652G>A	uc002hif.2	+	10	2684	c.2356G>A	c.(2356-2358)GGC>AGC	p.G786S		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	786	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCTGCCCACCGGCTTCCTGCA	0.692													A	32964652	G	A	32964652	3	1	74	1	0	0	0	0	1	0	0	0	16045	1116	39	1	2394	1	TMEM132E	17	32964652	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2618	32964652	48230558	1480	51751											
ZNF830	91603	broad.mit.edu	37	chr17	33288913	33288913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaaagcgccggacgcagacGaccaagatgtcaagagagcg	15	10	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:33288913G>A	uc002hih.3	+	1	365	c.328G>A	c.(328-330)GAC>AAC	p.D110N	CCT6B_uc002hig.2_5'Flank|CCT6B_uc010ctg.2_5'Flank|CCT6B_uc010wcc.1_5'Flank	NM_052857	NP_443089	Q96NB3	ZN830_HUMAN	coiled-coil domain containing 16	110					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)	1		Ovarian(249;0.17)				GGACGCAGACGACCAAGATGT	0.567													A	33288913	G	A	33288913	3	1	74	1	0	0	0	0	1	0	0	0	18181	1058	37	1	330	1	ZNF830	17	33288913	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	324261	33288913	47906297	1481	51752											
AMAC1	146861	broad.mit.edu	37	chr17	33520662	33520662	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagccagataggaaggccActgttgggaggcagggggga	18	8	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:33520662A>G	uc002hjd.2	-	1	751	c.665T>C	c.(664-666)GTG>GCG	p.V222A		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	222	Helical; (Potential).					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(366;0.0917)		TAGGAAGGCCACTGTTGGGAG	0.627													G	33520662	A	G	33520662	3	3	74	1	0	0	0	0	1	0	0	0	559	159	6	3	355	3	AMAC1	17	33520662	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	231749	33520662	47674548	1482	51753											
SLFN5	162394	broad.mit.edu	37	chr17	33592319	33592320	+	Frame_Shift_Ins	INS	-	-	C													acttgagttgcagtggcctcINSccccctccctcagaccagta							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:33592318_33592319T>TC	uc002hjf.4	+	4	2204_2205	c.2087_2088T>TC	c.(2086-2088)ctcfs	p.L696fs	SLFN5_uc010wcg.2_3'UTR	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	Homo sapiens schlafen family member 5 (SLFN5), mRNA.	696					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TGCAGTGGCCTCCCCCCTCCCT	0.5													C	33592320	-	C	33592319	7	5	74	1	0	1	1	0	0	0	0	0	14737	842	30	0	2102	0	SLFN5	17	33592319	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	71657	33592319	47602891	1483	51754											
MYO19	80179	broad.mit.edu	37	chr17	34883424	34883424	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactctctcattagctcgggCgagtagagctgaggaacagg	13	9	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:34883424C>T	uc010wcy.1	-	6	1250	c.258G>A	c.(256-258)TCG>TCA	p.S86S	MYO19_uc002hmw.2_Silent_p.S86S|MYO19_uc010cuu.2_RNA|MYO19_uc010wcz.1_RNA|MYO19_uc010wda.1_Intron|MYO19_uc002hmx.2_Silent_p.S86S	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	myosin XIX isoform 2	86	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)	1		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTAGCTCGGGCGAGTAGAGCT	0.602													T	34883424	C	T	34883424	2	4	74	1	0	0	0	0	0	0	0	1	10067	755	27	1		1	MYO19	17	34883424	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1291105	34883424	46311786	1484	51755											
SYNRG	11276	broad.mit.edu	37	chr17	35896180	35896180	+	Frame_Shift_Del	DEL	T	T	-													tcactgcacactgcagtggcTtttatccccagctccacacg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:35896179_35896179CT>C	uc002hoa.3	-	18	3651	c.3568_3568AG>G	c.(3568-3570)gccfs	p.A1190fs	SYNRG_uc010wde.2_Frame_Shift_Del_p.A1112fs|SYNRG_uc010wdf.2_Frame_Shift_Del_p.A1112fs|SYNRG_uc002hoc.3_Frame_Shift_Del_p.A1111fs|SYNRG_uc002hoe.3_Frame_Shift_Del_p.A1112fs|SYNRG_uc002hod.3_Frame_Shift_Del_p.A1067fs|SYNRG_uc010wdg.2_Frame_Shift_Del_p.A984fs|SYNRG_uc002hob.3_Frame_Shift_Del_p.A1190fs	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	1190					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACTGCAGTGGCTTTTATCCCC	0.502													-	35896180	T	-	35896180	7	5	74	1	0	1	0	1	0	0	0	0	15457	1606	56	0	466	0	SYNRG	17	35896180	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	1012756	35896180	45299030	1485	51756											
SYNRG	11276	broad.mit.edu	37	chr17	35914112	35914112	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatcggctgttttaaaatcGgtgaaaccatcatcagttcc	7	10	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:35914112G>A	uc002hoa.2	-	14	1796	c.1713C>T	c.(1711-1713)ACC>ACT	p.T571T	SYNRG_uc010wde.1_Silent_p.T493T|SYNRG_uc010wdf.1_Silent_p.T493T|SYNRG_uc002hoc.2_Silent_p.T492T|SYNRG_uc002hoe.2_Silent_p.T493T|SYNRG_uc002hod.2_Silent_p.T493T|SYNRG_uc010wdg.1_Silent_p.T410T|SYNRG_uc002hob.2_Silent_p.T571T|SYNRG_uc002hof.2_Silent_p.T283T|SYNRG_uc010cvd.1_Silent_p.T371T	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	571	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						TTTTAAAATCGGTGAAACCAT	0.403													A	35914112	G	A	35914112	2	1	74	1	0	0	0	0	0	0	0	1	15457	1103	39	1		1	SYNRG	17	35914112	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	17932	35914112	45281098	1486	51757											
MLLT6	4302	broad.mit.edu	37	chr17	36868998	36868998	+	Frame_Shift_Del	DEL	C	C	-													acaagaagcggcctgagtcgCcccccagcatcctcaccccg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:36868997_36868997GC>G	uc002hqi.4	+	7	787	c.774_774GC>G	c.(772-774)tcgfs	p.S258fs	MLLT6_uc010wdr.2_Frame_Shift_Del_p.S258fs|MLLT6_uc010cvm.1_Frame_Shift_Del_p.S258fs|MLLT6_uc002hqj.3_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (MLLT6), mRNA.	258					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGCCTGAGTCGCCCCCCAGCA	0.612			T	MLL	AL								-	36868998	C	-	36868998	7	5	74	1	0	1	0	1	0	0	0	0	9630	739	26	0	805	0	MLLT6	17	36868998	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	954886	36868998	44326212	1487	51758											
FBXO47	494188	broad.mit.edu	37	chr17	37099920	37099920	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtcatatagtaacttaatgGcatcagccaaacctttcaga	6	10	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:37099920G>T	uc002hrc.2	-	8	1063	c.863C>A	c.(862-864)GCC>GAC	p.A288D		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	F-box protein 47	288											0						TAACTTAATGGCATCAGCCAA	0.373													T	37099920	G	T	37099920	3	4	74	1	0	0	0	0	1	0	0	0	5756	1203	42	5	511	5	FBXO47	17	37099920	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	230922	37099920	44095290	1488	51759											
PLXDC1	57125	broad.mit.edu	37	chr17	37264408	37264408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaacaactgtggagttgtcgGagtagccagggttgaagttg	15	5	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:37264408G>A	uc002hrg.2	-	5	772	c.560C>T	c.(559-561)TCC>TTC	p.S187F	uc002hrf.1_3'UTR|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1 precursor	187	Extracellular (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)|skin(1)	3						GGAGTTGTCGGAGTAGCCAGG	0.527													A	37264408	G	A	37264408	3	1	74	1	0	0	0	0	1	0	0	0	12117	1174	41	4	982	4	PLXDC1	17	37264408	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	164488	37264408	43930802	1489	51760											
MED1	5469	broad.mit.edu	37	chr17	37564099	37564099	+	Frame_Shift_Del	DEL	G	G	-													actttcactgtccagattctGgggggtatatgctggtgact							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:37564099delG	uc002hrv.3	-	17	4587	c.4375delC	c.(4375-4377)CAGfs	p.Q1459fs	MED1_uc010wee.1_Frame_Shift_Del_p.Q1287fs|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1459	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TCCAGATTCTGGGGGGTATAT	0.488										HNSCC(31;0.082)			-	37564099	G	-	37564099	7	5	74	1	0	1	0	1	0	0	0	0	9425	1357	47	0	374	0	MED1	17	37564099	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	299691	37564099	43631111	1490	51761											
NEUROD2	4761	broad.mit.edu	37	chr17	37761954	37761954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgagacagagcggggggCtgagcgggccctcgtactcg	17	11	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:37761954C>T	uc002hry.2	-	2	1099	c.899G>A	c.(898-900)AGC>AAC	p.S300N		NM_006160	NP_006151	Q15784	NDF2_HUMAN	neurogenic differentiation 2	300					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			GAGCGGGGGGCTGAGCGGGCC	0.652													T	37761954	C	T	37761954	3	4	74	1	0	0	0	0	1	0	0	0	10349	797	28	2	253	2	NEUROD2	17	37761954	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	197855	37761954	43433256	1491	51762											
PPP1R1B	84152	broad.mit.edu	37	chr17	37785805	37785805	+	Frame_Shift_Del	DEL	C	C	-													ttcctcagaggaggaagcctCcccccaccaggtgagtttcc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:37785805delC	uc002hrz.2	+	3	622	c.155delC	c.(154-156)TCCfs	p.S52fs	PPP1R1B_uc002hsa.2_Frame_Shift_Del_p.S52fs|PPP1R1B_uc010cvx.2_Intron|PPP1R1B_uc002hsb.2_Frame_Shift_Del_p.S16fs|PPP1R1B_uc002hsc.2_Frame_Shift_Del_p.S16fs	NM_032192	NP_115568	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	52					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity				0	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GAGGAAGCCTCCCCCCACCAG	0.582													-	37785805	C	-	37785805	7	5	74	1	0	1	0	1	0	0	0	0	12368	855	30	0	165	0	PPP1R1B	17	37785805	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	23851	37785805	43409405	1492	51763											
THRA	7067	broad.mit.edu	37	chr17	38243031	38243031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggacctggaagccttcagCgagtttaccaagatcatcac	10	11	3	1	rs147570693		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:38243031C>T	uc002htw.2	+	7	1131	c.648C>T	c.(646-648)AGC>AGT	p.S216S	THRA_uc010cwp.1_Silent_p.S216S|THRA_uc002htv.2_Silent_p.S216S|THRA_uc002htx.2_Silent_p.S216S	NM_003250	NP_003241	P10827	THA_HUMAN	thyroid hormone receptor, alpha isoform 2	216	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding				0	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	AAGCCTTCAGCGAGTTTACCA	0.572											OREG0024390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	38243031	C	T	38243031	2	4	74	1	0	0	0	0	0	0	0	1	15870	767	27	1		1	THRA	17	38243031	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	457226	38243031	42952179	1493	51764											
KRT33B	3884	broad.mit.edu	37	chr17	39521092	39521092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacactccagccgcgcccGcacgtccagcagcacctgat	8	20	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:39521092G>A	uc002hwl.2	-	6	1081	c.1036C>T	c.(1036-1038)CGG>TGG	p.R346W		NM_002279	NP_002270	Q14525	KT33B_HUMAN	type I hair keratin 3B	346	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)				AGCCGCGCCCGCACGTCCAGC	0.642													A	39521092	G	A	39521092	3	1	74	1	0	0	0	0	1	0	0	0	8470	1086	38	1	186	1	KRT33B	17	39521092	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1278061	39521092	41674118	1494	51765											
KRT13	3860	broad.mit.edu	37	chr17	39661430	39661430	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcagcgttggcctcctccaGggcgcgcaccttctccaggt	12	16	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:39661430G>T	uc002hwu.1	-	1	436	c.373C>A	c.(373-375)CTG>ATG	p.L125M	KRT13_uc002hwv.1_Missense_Mutation_p.L125M|KRT13_uc002hww.2_Missense_Mutation_p.L18M|KRT13_uc010wfr.1_Missense_Mutation_p.L18M|KRT13_uc010cxo.2_Missense_Mutation_p.L125M|KRT13_uc002hwx.1_Missense_Mutation_p.L113M	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	125	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|skin(2)|pancreas(1)	5		Breast(137;0.000286)				GCCTCCTCCAGGGCGCGCACC	0.542													T	39661430	G	T	39661430	3	4	74	1	0	0	0	0	1	0	0	0	8450	991	35	5	1035	5	KRT13	17	39661430	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	140338	39661430	41533780	1495	51766											
KRT15	3866	broad.mit.edu	37	chr17	39671934	39671934	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcggccagtgagttctccAgcccagctttctgggggagt	13	12	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:39671934A>G	uc002hwy.2	-	6	1228	c.1037T>C	c.(1036-1038)CTG>CCG	p.L346P	KRT15_uc002hwz.2_Missense_Mutation_p.L248P|KRT15_uc002hxa.2_Missense_Mutation_p.L181P|KRT15_uc002hxb.1_Missense_Mutation_p.L181P	NM_002275	NP_002266	P19012	K1C15_HUMAN	keratin 15	346	Rod.|Coil 2.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000286)				TGAGTTCTCCAGCCCAGCTTT	0.602													G	39671934	A	G	39671934	3	3	74	1	0	0	0	0	1	0	0	0	8452	188	7	3	345	3	KRT15	17	39671934	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	10504	39671934	41523276	1496	51767											
HCRT	3060	broad.mit.edu	37	chr17	40336523	40336523	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagcagcagcagcagcagTagcgtcacggcggcccagga	15	13	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:40336523T>C	uc002hzc.1	-	2	132	c.45A>G	c.(43-45)CTA>CTG	p.L15L		NM_001524	NP_001515	O43612	OREX_HUMAN	orexin precursor	15					neuropeptide signaling pathway	cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle					0		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)		BRCA - Breast invasive adenocarcinoma(366;0.124)		gcagcagcagtagcGTCACGG	0.597													C	40336523	T	C	40336523	2	2	74	1	0	0	0	0	0	0	0	1	7000	1625	57	3		3	HCRT	17	40336523	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	664589	40336523	40858687	1497	51768											
STAT5B	6777	broad.mit.edu	37	chr17	40370236	40370237	+	Frame_Shift_Ins	INS	-	-	G													atgatggtggccttcacctgINSgggggggttcatgtgcacgt					rs144993426		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:40370235_40370236T>TG	uc002hzh.3	-	8	1271_1272	c.1102_1103A>CA	c.(1102-1104)cagfs	p.Q368fs	STAT5B_uc002hzi.3_Frame_Shift_Ins_p.Q368fs	NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	368					2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GGCCTTCACCTGGGGGGGGTTC	0.574													G	40370237	-	G	40370236	7	5	74	1	0	1	1	0	0	0	0	0	15268	1357	47	0	1305	0	STAT5B	17	40370236	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	33713	40370236	40824974	1498	51769											
AARSD1	80755	broad.mit.edu	37	chr17	41113254	41113254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccgctcccaatctacccGgaccagaacctggcttcctg	7	19	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:41113254G>A	uc002icc.2	-	3	289	c.286C>T	c.(286-288)CGG>TGG	p.R96W	AARSD1_uc002icd.2_Missense_Mutation_p.R209W|AARSD1_uc002ice.2_Missense_Mutation_p.R179W|AARSD1_uc002icf.2_Missense_Mutation_p.R270W|AARSD1_uc010whg.1_Missense_Mutation_p.R270W|AARSD1_uc010cyu.1_Missense_Mutation_p.R96W	NM_025267	NP_079543	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	96					alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding				0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CAATCTACCCGGACCAGAACC	0.502													A	41113254	G	A	41113254	3	1	74	1	0	0	0	0	1	0	0	0	21	1115	39	1	992	1	AARSD1	17	41113254	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	743018	41113254	40081956	1499	51770											
DHX8	1659	broad.mit.edu	37	chr17	41570249	41570249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagtccccccaaagaccGgaaggaccgggacaaatatg	11	12	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:41570249G>A	uc002idu.1	+	6	777	c.704G>A	c.(703-705)CGG>CAG	p.R235Q	DHX8_uc010wif.1_Missense_Mutation_p.R144Q|DHX8_uc010wig.1_Missense_Mutation_p.R235Q	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	235						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CCCAAAGACCGGAAGGACCGG	0.547													A	41570249	G	A	41570249	3	1	74	1	0	0	0	0	1	0	0	0	4515	1116	39	1	726	1	DHX8	17	41570249	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	456995	41570249	39624961	1500	51771											
DUSP3	1845	broad.mit.edu	37	chr17	41847137	41847137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtaggcgataactagcGttggggagcggctataacct	15	7	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:41847137G>A	uc002ied.3	-	3	474	c.398C>T	c.(397-399)ACG>ATG	p.T133M	DUSP3_uc002iee.3_3'UTR|DUSP3_uc002ief.1_Missense_Mutation_p.T90M	NM_004090	NP_004081	P51452	DUS3_HUMAN	dual specificity phosphatase 3	133	Tyrosine-protein phosphatase.				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|immunological synapse|nucleoplasm	MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		GATAACTAGCGTTGGGGAGCG	0.607													A	41847137	G	A	41847137	3	1	74	1	0	0	0	0	1	0	0	0	4826	1145	40	1	163	1	DUSP3	17	41847137	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	276888	41847137	39348073	1501	51772											
HDAC5	10014	broad.mit.edu	37	chr17	42168863	42168863	+	Splice_Site	DEL	G	G	-													cgacagcttcggggaggcctGgggggtgaagggaggggctt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:42168862_42168862TG>T	uc002iff.1	-	11	1500	c.1168_splice	c.e11-1	p.A390_splice	HDAC5_uc002ifd.1_Splice_Site_p.A389_splice|HDAC5_uc002ife.1_Splice_Site_p.A389_splice|HDAC5_uc010czp.1_Splice_Site_p.A389_splice|HDAC5_uc002ifh.2_Splice_Site_p.A389_splice	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.	389					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CGGGGAGGCCTGGGGGGTGAA	0.632													-	42168863	G	-	42168863	8	5	74	1	0	1	0	1	0	0	1	0	7010	1363	47	0		0	HDAC5	17	42168863	Splice_Site	DEL	G	TCGA-BR-8361-01A-11D-2340-08	321726	42168863	39026347	1502	51773											
C17orf53	78995	broad.mit.edu	37	chr17	42232251	42232251	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggacggtgcacaggttgcTgctggagacgtgccagaatg	18	8	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:42232251T>C	uc002ifi.1	+	7	1777	c.1592T>C	c.(1591-1593)CTG>CCG	p.L531P	C17orf53_uc010czq.1_Missense_Mutation_p.L530P|C17orf53_uc002ifj.1_Missense_Mutation_p.L455P|C17orf53_uc002ifk.1_Intron	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	hypothetical protein LOC78995	531											0		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CACAGGTTGCTGCTGGAGACG	0.622													C	42232251	T	C	42232251	3	2	74	1	0	0	0	0	1	0	0	0	1862	1580	55	3	1618	3	C17orf53	17	42232251	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	63388	42232251	38962959	1503	51774											
UBTF	7343	broad.mit.edu	37	chr17	42290653	42290653	+	Splice_Site	DEL	G	G	-													gtcctgaatatatttcatctGgggggaggaggggatggggt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:42290652_42290652TG>T	uc010czs.3	-	6	771	c.475_splice	c.e6-1	p.M159_splice	UBTF_uc002igc.3_Splice_Site_p.M159_splice|UBTF_uc002igd.3_Splice_Site_p.M159_splice|UBTF_uc010czt.3_Splice_Site_p.M159_splice|UBTF_uc002ige.2_Splice_Site_p.M159_splice	NM_014233	NP_055048	P17480	UBF1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA.	159					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ATATTTCATCTGGGGGGAGGA	0.597													-	42290653	G	-	42290653	8	5	74	1	0	1	0	1	0	0	1	0	16906	1363	47	0		0	UBTF	17	42290653	Splice_Site	DEL	G	TCGA-BR-8361-01A-11D-2340-08	58402	42290653	38904557	1504	51775											
SLC4A1	6521	broad.mit.edu	37	chr17	42334898	42334898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacgatgtactctagaccGttggtctcgcagaactgcag	10	13	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:42334898G>A	uc002igf.3	-	13	1595	c.1446C>T	c.(1444-1446)AAC>AAT	p.N482N	SLC4A1_uc002igg.3_Silent_p.N482N	NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	482	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ACTCTAGACCGTTGGTCTCGC	0.607													A	42334898	G	A	42334898	2	1	74	1	0	0	0	0	0	0	0	1	14650	1136	40	1		1	SLC4A1	17	42334898	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	44245	42334898	38860312	1505	51776											
SLC4A1	6521	broad.mit.edu	37	chr17	42338958	42338958	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccttgtgggtacccggGtgtgatgtggtgtggtagtc	16	8	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:42338958G>T	uc002igf.3	-	4	302	c.153C>A	c.(151-153)CAC>CAA	p.H51Q	SLC4A1_uc002igg.3_Missense_Mutation_p.H51Q	NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	51	Cytoplasmic.				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGTACCCGGGTGTGATGTGG	0.577													T	42338958	G	T	42338958	3	4	74	1	0	0	0	0	1	0	0	0	14650	1252	44	5	2650	5	SLC4A1	17	42338958	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	4060	42338958	38856252	1506	51777											
GRN	2896	broad.mit.edu	37	chr17	42428075	42428075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtggccttgtccagctcGgtcatgtgtccggacgcacg	13	14	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:42428075G>A	uc002igp.1	+	7	834	c.615G>A	c.(613-615)TCG>TCA	p.S205S	GRN_uc002igq.1_3'UTR|GRN_uc002igr.1_5'UTR	NM_002087	NP_002078	P28799	GRN_HUMAN	granulin precursor	205					signal transduction	extracellular space	cytokine activity|growth factor activity			ovary(2)|central_nervous_system(2)|skin(1)	5		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGTCCAGCTCGGTCATGTGTC	0.607											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	42428075	G	A	42428075	2	1	74	1	0	0	0	0	0	0	0	1	6804	1103	39	1		1	GRN	17	42428075	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	89117	42428075	38767135	1507	51778											
ITGA2B	3674	broad.mit.edu	37	chr17	42466710	42466710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaactggctgccattgggGcctgcatagaaggtgagctg	14	10	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:42466710G>A	uc002igt.1	-	1	164	c.132C>T	c.(130-132)GGC>GGT	p.G44G		NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	44	Extracellular (Potential).|FG-GAP 1.				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TGCCATTGGGGCCTGCATAGA	0.592													A	42466710	G	A	42466710	2	1	74	1	0	0	0	0	0	0	0	1	7876	1190	42	2		2	ITGA2B	17	42466710	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	38635	42466710	38728500	1508	51779											
MAP3K14	9020	broad.mit.edu	37	chr17	43342571	43342571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtctcccactttgacccGgtggaactcccggatgtgca	11	13	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:43342571G>A	uc002iiw.1	-	16	2747	c.2638C>T	c.(2638-2640)CGG>TGG	p.R880W	LOC100133991_uc010dah.2_Intron|LOC100133991_uc002iit.3_Intron|LOC100133991_uc010dai.2_Intron|MAP3K14_uc002iiu.1_Missense_Mutation_p.R410W|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Missense_Mutation_p.R464W	NM_003954	NP_003945	Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase	880				R -> G (in Ref. 2; BAF82892).	cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						ACTTTGACCCGGTGGAACTCC	0.577													A	43342571	G	A	43342571	3	1	74	1	0	0	0	0	1	0	0	0	9248	1115	39	1	213	1	MAP3K14	17	43342571	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	875861	43342571	37852639	1509	51780											
C17orf57	124989	broad.mit.edu	37	chr17	45451978	45451978	+	Frame_Shift_Del	DEL	A	A	-													caatatccaaaaagttaaatAaaaaaagcaaccaatattat							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:45451977_45451977TA>T	uc002iln.3	+	11	1448	c.1017_1017TA>T	c.(1015-1017)aatfs	p.N339fs	C17orf57_uc002ilm.3_Frame_Shift_Del_p.N243fs|C17orf57_uc002ill.1_Frame_Shift_Del_p.N95fs|C17orf57_uc010daz.1_Frame_Shift_Del_p.N291fs	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	339							calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						AAAAGTTAAATAAAAAAAGCA	0.308													-	45451978	A	-	45451978	7	5	74	1	0	1	0	1	0	0	0	0	1865	363	13	0	1052	0	C17orf57	17	45451978	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	2109407	45451978	35743232	1510	51781											
MRPL10	124995	broad.mit.edu	37	chr17	45904542	45904542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaactgctgctatctccCggcggagaagcctgatgagg	14	10	1	3	rs149631185		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:45904542C>T	uc002ilz.2	-	3	277	c.251G>A	c.(250-252)CGG>CAG	p.R84Q	MRPL10_uc010wky.1_Missense_Mutation_p.R45Q|MRPL10_uc002ily.2_Missense_Mutation_p.R94Q	NM_145255	NP_660298	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10 precursor	84					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			ovary(1)	1						TGCTATCTCCCGGCGGAGAAG	0.547													T	45904542	C	T	45904542	3	4	74	1	0	0	0	0	1	0	0	0	9775	652	23	1	546	1	MRPL10	17	45904542	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	452564	45904542	35290668	1511	51782											
LRRC46	90506	broad.mit.edu	37	chr17	45911828	45911828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactgcagactgtccgcctgGaccgggaggggattactact	13	11	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:45911828G>A	uc002ima.2	+	3	410	c.154G>A	c.(154-156)GAC>AAC	p.D52N	MRPL10_uc010wky.1_5'Flank|MRPL10_uc002ilz.2_5'Flank|MRPL10_uc002ily.2_5'Flank|LRRC46_uc002imb.2_5'UTR	NM_033413	NP_219481	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	52	LRR 1.									ovary(1)	1						TGTCCGCCTGGACCGGGAGGG	0.517													A	45911828	G	A	45911828	3	1	74	1	0	0	0	0	1	0	0	0	9003	1174	41	4	164	4	LRRC46	17	45911828	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	7286	45911828	35283382	1512	51783											
HOXB1	3211	broad.mit.edu	37	chr17	46607839	46607839	+	Frame_Shift_Del	DEL	G	G	-													cggtctgctcgttcccataaGggggatgctgcggaggatat							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:46607838_46607838AG>A	uc002ink.1	-	0	435	c.429_429CT>T	c.(427-429)cctfs	p.P143fs	HOXB1_uc021tzf.1_Frame_Shift_Del_p.P143fs	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	143						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CGTTCCCATAAGGGGGATGCT	0.622													-	46607839	G	-	46607839	7	5	74	1	0	1	0	1	0	0	0	0	7299	1000	35	0	485	0	HOXB1	17	46607839	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	696011	46607839	34587371	1513	51784											
HOXB3	3213	broad.mit.edu	37	chr17	46628527	46628527	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccgccgccaccgccgccGccaccacagccctctgctgg	10	24	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:46628527G>A	uc002inn.2	-	2	865	c.465C>T	c.(463-465)GGC>GGT	p.G155G	HOXB3_uc010wlm.1_Silent_p.G82G|HOXB3_uc010dbf.2_Silent_p.G155G|HOXB3_uc010dbg.2_Silent_p.G155G|HOXB3_uc002ino.2_Silent_p.G155G|HOXB3_uc010wlk.1_Silent_p.G23G|HOXB3_uc010wll.1_Silent_p.G82G	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	155	Gly-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						caccgccgccgccaccACAGC	0.373													A	46628527	G	A	46628527	2	1	74	1	0	0	0	0	0	0	0	1	7302	1074	38	1		1	HOXB3	17	46628527	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	20688	46628527	34566683	1514	51785											
B4GALNT2	124872	broad.mit.edu	37	chr17	47210513	47210513	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgggcttcggggctctctgCttggaactcagaggcgctga	16	11	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:47210513C>A	uc002ion.2	+	1	185	c.126C>A	c.(124-126)TGC>TGA	p.C42*	B4GALNT2_uc010wlt.1_Intron|B4GALNT2_uc010wlu.1_Intron	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	42	Cytoplasmic (Potential).				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2			all cancers(6;0.000316)			GGGCTCTCTGCTTGGAACTCA	0.692													A	47210513	C	A	47210513	4	1	74	1	0	0	0	0	0	1	0	0	1267	805	28	5	146	5	B4GALNT2	17	47210513	Nonsense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	581986	47210513	33984697	1515	51786											
GNGT2	2793	broad.mit.edu	37	chr17	47284199	47284199	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaaaaggatcgtttcctgCttgggcctccacgtactcct	10	12	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:47284199C>A	uc002ioo.1	-	4	437	c.130G>T	c.(130-132)GCA>TCA	p.A44S		NM_031498	NP_113686	O14610	GBGT2_HUMAN	guanine nucleotide binding protein-gamma	44					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity				0			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			TCGTTTCCTGCTTGGGCCTCC	0.488													A	47284199	C	A	47284199	3	1	74	1	0	0	0	0	1	0	0	0	6534	797	28	5	83	5	GNGT2	17	47284199	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	73686	47284199	33911011	1516	51787											
ITGA3	3675	broad.mit.edu	37	chr17	48157650	48157651	+	Frame_Shift_Ins	INS	-	-	TG													tgccacagggcgtgcccactINSgtgtgtggctagagtgcccc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:48157649_48157650C>CTG	uc010dbm.3	+	21	3194_3195	c.2730_2731C>CTG	c.(2728-2733)cactgtfs	p.H910fs	ITGA3_uc010dbl.3_Frame_Shift_Ins_p.H910fs	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	910					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GGCGTGCCCACTGTGTGTGGCT	0.594													TG	48157651	-	TG	48157650	7	5	74	1	0	1	1	0	0	0	0	0	7877	1580	55	0	2817	0	ITGA3	17	48157650	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	873451	48157650	33037560	1517	51788											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602													-	48433967	C	-	48433967	7	5	74	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	276317	48433967	32761243	1518	51789											
MRPL27	51264	broad.mit.edu	37	chr17	48445469	48445469	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacatcaaagcatagctaccAgtttgaaggtgccctcaggc	10	11	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:48445469A>C	uc002iqq.2	-	4	462	c.431T>G	c.(430-432)CTG>CGG	p.L144R	MRPL27_uc002iqr.2_3'UTR	NM_016504	NP_057588	Q9P0M9	RM27_HUMAN	mitochondrial ribosomal protein L27	144					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome				0	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			CATAGCTACCAGTTTGAAGGT	0.562													C	48445469	A	C	48445469	3	2	74	1	0	0	0	0	1	0	0	0	9791	188	7	5	19	5	MRPL27	17	48445469	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	11502	48445469	32749741	1519	51790											
ANKRD40	91369	broad.mit.edu	37	chr17	48777241	48777241	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatcatcatcatcatcAtcttcttcttccacttaaaa	0	13	10	0	rs145395652		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:48777241A>T	uc002iso.2	-	3	552	c.297T>A	c.(295-297)GAT>GAA	p.D99E		NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	99	Poly-Asp.										0			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			catcatcatcatcTTCTTCTT	0.358													T	48777241	A	T	48777241	3	4	74	1	0	0	0	0	1	0	0	0	669	214	8	5	821	5	ANKRD40	17	48777241	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	331772	48777241	32417969	1520	51791											
LUC7L3	51747	broad.mit.edu	37	chr17	48827882	48827883	+	Frame_Shift_Ins	INS	-	-	A													aaagaggggatctgatgataINSaaaaaagtagtgtgaagtcc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:48827881_48827882T>TA	uc002isq.3	+	9	1326_1327	c.1158_1159T>TA	c.(1156-1161)gataaafs	p.D386fs	LUC7L3_uc010wmw.2_Frame_Shift_Ins_p.D310fs|LUC7L3_uc002isr.3_Frame_Shift_Ins_p.D386fs|LUC7L3_uc002iss.3_Frame_Shift_Ins_p.D386fs|AK090674_uc002ist.1_5'Flank	NM_016424	NP_057508	O95232	LC7L3_HUMAN	Homo sapiens LUC7-like 3 (S. cerevisiae) (LUC7L3), transcript variant 1, mRNA.	386	Arg/Ser-rich.				RNA splicing|apoptosis|mRNA processing|response to stress	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding	p.D386fs*2(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						GATCTGATGATAAAAAAAGTAG	0.356													A	48827883	-	A	48827882	7	5	74	1	0	1	1	0	0	0	0	0	9084	363	13	0	1197	0	LUC7L3	17	48827882	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	50641	48827882	32367328	1521	51792											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917430	48917430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgcggcccaaccatgtgCgtggcaacgtggtggtcacc	13	13	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:48917430C>T	uc002isv.3	+	2	1475	c.781C>T	c.(781-783)CGT>TGT	p.R261C	WFIKKN2_uc010dbu.2_Missense_Mutation_p.R168C	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	261	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CAACCATGTGCGTGGCAACGT	0.617													T	48917430	C	T	48917430	3	4	74	1	0	0	0	0	1	0	0	0	17356	768	27	1	787	1	WFIKKN2	17	48917430	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	89548	48917430	32277780	1522	51793											
SPAG9	9043	broad.mit.edu	37	chr17	49075879	49075879	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgcttcttttcttgacGgacggagtaacatgagacgt	12	8	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:49075879G>A	uc002itc.2	-	15	1973	c.1764C>T	c.(1762-1764)TCC>TCT	p.S588S	SPAG9_uc002itb.2_Silent_p.S574S|SPAG9_uc002itd.2_Silent_p.S578S|SPAG9_uc002itf.2_Silent_p.S409S|SPAG9_uc002ita.2_Silent_p.S431S|SPAG9_uc002ite.2_Silent_p.S418S	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	588					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TTTTCTTGACGGACGGAGTAA	0.433													A	49075879	G	A	49075879	2	1	74	1	0	0	0	0	0	0	0	1	14985	1103	39	1		1	SPAG9	17	49075879	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	158449	49075879	32119331	1523	51794											
CA10	56934	broad.mit.edu	37	chr17	49710999	49710999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggttctggctgagcaggcGcaaggaatgcatctgaggag	16	8	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:49710999G>A	uc002itw.3	-	8	1788	c.802C>T	c.(802-804)CGC>TGC	p.R268C	CA10_uc002itu.3_Missense_Mutation_p.R197C|CA10_uc002itv.3_Missense_Mutation_p.R274C|CA10_uc002itx.3_Missense_Mutation_p.R268C|CA10_uc002ity.3_Missense_Mutation_p.R268C|CA10_uc002itz.2_Missense_Mutation_p.R268C	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	268					brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CTGAGCAGGCGCAAGGAATGC	0.512													A	49710999	G	A	49710999	3	1	74	1	0	0	0	0	1	0	0	0	2511	1087	38	1	192	1	CA10	17	49710999	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	635120	49710999	31484211	1524	51795											
KIF2B	84643	broad.mit.edu	37	chr17	51900843	51900843	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaaaagtctccctgccTctgggaaatccagaaactgc	9	12	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:51900843T>C	uc002iua.2	+	1	605	c.449T>C	c.(448-450)CTC>CCC	p.L150P	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	150					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						TCTCCCTGCCTCTGGGAAATC	0.572													C	51900843	T	C	51900843	3	2	74	1	0	0	0	0	1	0	0	0	8298	1551	54	3	451	3	KIF2B	17	51900843	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	2189844	51900843	29294367	1525	51796											
KIF2B	84643	broad.mit.edu	37	chr17	51902309	51902309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatattgatttttgcattGcccggtctttgtccattttg	8	7	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:51902309G>A	uc002iua.2	+	1	2071	c.1915G>A	c.(1915-1917)GCC>ACC	p.A639T	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	639					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						TTTTTGCATTGCCCGGTCTTT	0.448													A	51902309	G	A	51902309	3	1	74	1	0	0	0	0	1	0	0	0	8298	1319	46	2	1917	2	KIF2B	17	51902309	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1466	51902309	29292901	1526	51797											
SCPEP1	59342	broad.mit.edu	37	chr17	55065125	55065125	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcagttatgtgaatggtagtGgtgcctatgccaaggacctg	13	7	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:55065125G>C	uc002iuv.3	+	4	438	c.385G>C	c.(385-387)GGT>CGT	p.G129R	SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Missense_Mutation_p.G79R	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1 precursor	129					proteolysis	extracellular region	serine-type carboxypeptidase activity			skin(1)	1	Breast(9;2.86e-08)					GAATGGTAGTGGTGCCTATGC	0.493													C	55065125	G	C	55065125	3	2	74	1	0	0	0	0	1	0	0	0	13935	1348	47	5	399	5	SCPEP1	17	55065125	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	3162816	55065125	26130085	1527	51798											
EPX	8288	broad.mit.edu	37	chr17	56274532	56274532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgctttcaagacaacgGccgggccctgctgcccttcg	11	17	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:56274532G>A	uc002ivq.2	+	7	1120	c.1034G>A	c.(1033-1035)GGC>GAC	p.G345D		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	345					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						CAAGACAACGGCCGGGCCCTG	0.647													A	56274532	G	A	56274532	3	1	74	1	0	0	0	0	1	0	0	0	5200	1203	42	2	1060	2	EPX	17	56274532	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1209407	56274532	24920678	1528	51799											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	74	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	160629	56435161	24760049	1529	51800											
RNF43	54894	broad.mit.edu	37	chr17	56448298	56448298	+	Frame_Shift_Del	DEL	G	G	-													agccagtgacaggcaggggcGgggggcccgtcgaggactct					rs2257205	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:56448297_56448297CG>C	uc002iwf.3	-	1	2306	c.350_350CG>G	c.(349-351)cgcfs	p.R117fs	RNF43_uc010wnv.2_Intron|RNF43_uc002iwh.4_Frame_Shift_Del_p.R117fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.R117fs|RNF43_uc010dcw.3_5'UTR	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	117			R -> H (in dbSNP:rs2257205).			endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGGCAGGGGCGGGGGGCCCG	0.602													-	56448298	G	-	56448298	7	5	74	1	0	1	0	1	0	0	0	0	13495	1116	39	0	2034	0	RNF43	17	56448298	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	13137	56448298	24746912	1530	51801											
MTMR4	9110	broad.mit.edu	37	chr17	56573626	56573626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttagggtcactggatgtaCgagtcagggggctgcttgtg	18	6	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:56573626C>T	uc002iwj.2	-	16	1987	c.1877G>A	c.(1876-1878)CGT>CAT	p.R626H		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	626						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTGGATGTACGAGTCAGGGG	0.507													T	56573626	C	T	56573626	3	4	74	1	0	0	0	0	1	0	0	0	9946	536	19	1	1726	1	MTMR4	17	56573626	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	125328	56573626	24621584	1531	51802											
TRIM37	4591	broad.mit.edu	37	chr17	57181748	57181748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaacatcggaaaacctcaGcaatgctctgaaaacagtaa	7	9	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:57181748G>A	uc002iwy.3	-	2	473	c.29C>T	c.(28-30)GCT>GTT	p.A10V	TRIM37_uc002iwz.3_Missense_Mutation_p.A10V|TRIM37_uc002ixa.3_5'UTR|TRIM37_uc010woc.1_Intron|uc002ixb.2_5'Flank	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	10						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GAAAACCTCAGCAATGCTCTG	0.398									Mulibrey_Nanism				A	57181748	G	A	57181748	3	1	74	1	0	0	0	0	1	0	0	0	16508	971	34	2	2965	2	TRIM37	17	57181748	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	608122	57181748	24013462	1532	51803											
CLTC	1213	broad.mit.edu	37	chr17	57761246	57761246	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattttaaaggttaaacagcTaccactggtgaaaccgtatt	7	7	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:57761246T>G	uc002ixq.1	+	28	4777	c.4334T>G	c.(4333-4335)CTA>CGA	p.L1445R	CLTC_uc002ixp.2_Missense_Mutation_p.L1445R|CLTC_uc002ixr.1_Missense_Mutation_p.L1449R	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	1445	Heavy chain arm.|Proximal segment.|Involved in binding clathrin light chain (By similarity).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GTTAAACAGCTACCACTGGTG	0.333			T	ALK|TFE3	ALCL|renal 								G	57761246	T	G	57761246	3	3	74	1	0	0	0	0	1	0	0	0	3566	1522	53	5	4444	5	CLTC	17	57761246	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	579498	57761246	23433964	1533	51804											
HEATR6	63897	broad.mit.edu	37	chr17	58153591	58153591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcctggacaagaagagcaCtaacgtcctaccaaaaaaaa	7	10	0	2	rs142343207		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:58153591C>T	uc002iyk.1	-	2	244	c.227G>A	c.(226-228)AGT>AAT	p.S76N	HEATR6_uc010wos.1_5'Flank	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	76							binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AAGAAGAGCACTAACGTCCTA	0.368													T	58153591	C	T	58153591	3	4	74	1	0	0	0	0	1	0	0	0	7033	565	20	4	3394	4	HEATR6	17	58153591	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	392345	58153591	23041619	1534	51805											
BCAS3	54828	broad.mit.edu	37	chr17	59118211	59118211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaccaccctctgctcctcGctgcagatgcagtacagtat	7	15	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:59118211G>A	uc002iyv.3	+	20	2141	c.2032G>A	c.(2032-2034)GCT>ACT	p.A678T	BCAS3_uc002iyu.3_Missense_Mutation_p.A663T|BCAS3_uc002iyw.3_Missense_Mutation_p.A659T|BCAS3_uc002iyy.3_Missense_Mutation_p.A434T|BCAS3_uc002iyz.3_Missense_Mutation_p.A232T|BCAS3_uc002iza.3_Missense_Mutation_p.A217T	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	678						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TCTGCTCCTCGCTGCAGATGC	0.388													A	59118211	G	A	59118211	3	1	74	1	0	0	0	0	1	0	0	0	1352	1087	38	1	2106	1	BCAS3	17	59118211	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	964620	59118211	22076999	1535	51806											
INTS2	57508	broad.mit.edu	37	chr17	59972690	59972690	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaatacctgctcagtaaaaaTttcctgtgtgaagattgtct	7	7	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:59972690T>A	uc002izn.2	-	12	1649	c.1573A>T	c.(1573-1575)ATT>TTT	p.I525F	INTS2_uc002izm.2_Missense_Mutation_p.I517F	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	525					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3						TCAGTAAAAATTTCCTGTGTG	0.299													A	59972690	T	A	59972690	3	1	74	1	0	0	0	0	1	0	0	0	7778	1493	52	5	2097	5	INTS2	17	59972690	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	854479	59972690	21222520	1536	51807											
DDX42	11325	broad.mit.edu	37	chr17	61886281	61886281	+	Frame_Shift_Del	DEL	G	G	-													caggccaaggcccttcaggaGggggcagagattgttgtgtg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:61886280_61886280AG>A	uc002jbu.3	+	10	1381	c.1124_1124AG>A	c.(1123-1125)gagfs	p.E375fs	DDX42_uc002jbv.3_Frame_Shift_Del_p.E375fs|DDX42_uc002jbw.1_Frame_Shift_Del_p.E111fs|DDX42_uc002jbx.3_Frame_Shift_Del_p.E111fs|DDX42_uc002jby.3_5'Flank	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	375	Helicase ATP-binding.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GCCCTTCAGGAGGGGGCAGAG	0.478													-	61886281	G	-	61886281	7	5	74	1	0	1	0	1	0	0	0	0	4362	991	35	0	1159	0	DDX42	17	61886281	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	1913591	61886281	19308929	1537	51808											
CSH2	1443	broad.mit.edu	37	chr17	61950602	61950602	+	Frame_Shift_Del	DEL	A	A	-													gcttggagcatagcgtggtcAaaaagcctggataacggaac							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:61950601_61950601CA>C	uc002jch.3	-	1	224	c.109_109TG>G	c.(109-111)gacfs	p.D37fs	CSH2_uc002jci.3_Frame_Shift_Del_p.D37fs|CSH2_uc002jcg.3_Frame_Shift_Del_p.D37fs	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	37					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						ATAGCGTGGTCAAAAAGCCTG	0.607													-	61950602	A	-	61950602	7	5	74	1	0	1	0	1	0	0	0	0	3941	127	5	0	609	0	CSH2	17	61950602	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	64321	61950602	19244608	1538	51809											
SCN4A	6329	broad.mit.edu	37	chr17	62019244	62019244	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacagcagcgtccggatgccCttggccccgcggatcagccg	13	16	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:62019244C>A	uc002jds.1	-	24	4475	c.4398G>T	c.(4396-4398)AAG>AAT	p.K1466N		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1466	Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).|IV.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	TCCGGATGCCCTTGGCCCCGC	0.607													A	62019244	C	A	62019244	3	1	74	1	0	0	0	0	1	0	0	0	13920	680	24	5	1116	5	SCN4A	17	62019244	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	68642	62019244	19175966	1539	51810											
CCDC45	90799	broad.mit.edu	37	chr17	62518978	62518978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtcactgctccccagccGtaaattctactggagagcat	8	13	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:62518978G>A	uc002jem.2	+	8	932	c.874G>A	c.(874-876)GTA>ATA	p.V292I	CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Missense_Mutation_p.V128I	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45	292						centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CTCCCCAGCCGTAAATTCTAC	0.463													A	62518978	G	A	62518978	3	1	74	1	0	0	0	0	1	0	0	0	2816	1145	40	1	904	1	CCDC45	17	62518978	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	499734	62518978	18676232	1540	51811											
CCDC45	90799	broad.mit.edu	37	chr17	62528989	62528989	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacacagtctcctgccccttAtgctggagcagtttccgttt	8	13	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:62528989A>G	uc002jem.2	+	15	1763	c.1705A>G	c.(1705-1707)ATG>GTG	p.M569V	CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Missense_Mutation_p.M405V|CCDC45_uc002jeo.1_Missense_Mutation_p.M1V	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45	569						centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCTGCCCCTTATGCTGGAGCA	0.423													G	62528989	A	G	62528989	3	3	74	1	0	0	0	0	1	0	0	0	2816	449	16	3	1763	3	CCDC45	17	62528989	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	10011	62528989	18666221	1541	51812											
SMURF2	64750	broad.mit.edu	37	chr17	62589575	62589575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaccagtgtctttgaggCggttgatggcattggaaaga	13	7	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:62589575C>T	uc002jep.1	-	4	705	c.317G>A	c.(316-318)CGC>CAC	p.R106H	SMURF2_uc002jeq.1_5'UTR|SMURF2_uc002jer.1_5'UTR	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	106					BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			skin(3)|lung(1)	4	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			GTCTTTGAGGCGGTTGATGGC	0.313													T	62589575	C	T	62589575	3	4	74	1	0	0	0	0	1	0	0	0	14820	768	27	1	1993	1	SMURF2	17	62589575	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	60586	62589575	18605635	1542	51813											
RGS9	8787	broad.mit.edu	37	chr17	63223455	63223455	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttgatggactcggaggAtgctggaacaggagagtcgg	17	7	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:63223455A>G	uc002jfe.2	+	19	2065	c.1955A>G	c.(1954-1956)GAT>GGT	p.D652G	RGS9_uc002jfd.2_Missense_Mutation_p.D649G|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.D423G	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	652					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4						GACTCGGAGGATGCTGGAACA	0.582													G	63223455	A	G	63223455	3	3	74	1	0	0	0	0	1	0	0	0	13313	333	12	3	2084	3	RGS9	17	63223455	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	633880	63223455	17971755	1543	51814											
AXIN2	8313	broad.mit.edu	37	chr17	63532585	63532585	+	Frame_Shift_Del	DEL	C	C	-													tgcgggggtgcccgctgttgCccccccacagatggtgccgg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:63532585delC	uc002jfi.2	-	8	2283	c.1994delG	c.(1993-1995)GGCfs	p.G665fs	AXIN2_uc002jfh.2_Frame_Shift_Del_p.G600fs	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	665					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						CCCGCTGTTGCCCCCCCACAG	0.657									Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				-	63532585	C	-	63532585	7	5	74	1	0	1	0	1	0	0	0	0	1237	739	26	0	553	0	AXIN2	17	63532585	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	309130	63532585	17662625	1544	51815											
BPTF	2186	broad.mit.edu	37	chr17	65919019	65919019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggccaaagagaccagaaaCgcccaagcaaactggccctg	11	14	0	2	rs148728817	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:65919019C>T	uc002jgf.2	+	14	5682	c.5621C>T	c.(5620-5622)ACG>ATG	p.T1874M	BPTF_uc002jge.2_Missense_Mutation_p.T2000M	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2000					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGACCAGAAACGCCCAAGCAA	0.453													T	65919019	C	T	65919019	3	4	74	1	0	0	0	0	1	0	0	0	1495	536	19	1	6061	1	BPTF	17	65919019	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2386434	65919019	15276191	1545	51816											
ABCA8	10351	broad.mit.edu	37	chr17	66925324	66925324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggaacacgaccaggcCggtgaggaaagatttcttta	14	7	1	2	rs4147979	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:66925324C>T	uc002jhp.2	-	8	1170	c.991G>A	c.(991-993)GGC>AGC	p.G331S	ABCA8_uc002jhq.2_Missense_Mutation_p.G331S|ABCA8_uc010wqq.1_Missense_Mutation_p.G331S|ABCA8_uc010wqr.1_Missense_Mutation_p.G270S|ABCA8_uc002jhr.2_Missense_Mutation_p.G331S	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	331	Helical; (Potential).					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					ACGACCAGGCCGGTGAGGAAA	0.433													T	66925324	C	T	66925324	3	4	74	1	0	0	0	0	1	0	0	0	38	652	23	1	3878	1	ABCA8	17	66925324	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1006305	66925324	14269886	1546	51817											
C17orf77	146723	broad.mit.edu	37	chr17	72588248	72588248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgagaacagagcgtctctGtctccaagccagccgctgtc	10	15	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:72588248G>A	uc002jla.1	+	3	425	c.63G>A	c.(61-63)CTG>CTA	p.L21L	CD300LD_uc002jkz.2_Intron	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	hypothetical protein LOC146723	21						extracellular region					0						GAGCGTCTCTGTCTCCAAGCC	0.502													A	72588248	G	A	72588248	2	1	74	1	0	0	0	0	0	0	0	1	1882	1364	48	4		4	C17orf77	17	72588248	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	5662924	72588248	8606962	1547	51818											
C17orf28	283987	broad.mit.edu	37	chr17	72948429	72948429	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctcatgatggtctgcagCggcagcttcgacttccagga	12	12	2	1	rs146778361	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:72948429C>T	uc002jmj.3	-	17	2228	c.2079G>A	c.(2077-2079)CCG>CCA	p.P693P	C17orf28_uc002jmi.2_Silent_p.P95P|C17orf28_uc010wrs.1_Silent_p.P492P	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	hypothetical protein LOC283987	693						integral to membrane|plasma membrane	protein binding				0	all_lung(278;0.151)|Lung NSC(278;0.185)					TGGTCTGCAGCGGCAGCTTCG	0.547													T	72948429	C	T	72948429	2	4	74	1	0	0	0	0	0	0	0	1	1853	755	27	1		1	C17orf28	17	72948429	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	360181	72948429	8246781	1548	51819											
GGA3	23163	broad.mit.edu	37	chr17	73237030	73237030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagggaggattgggatgCctgaggagggtggagtaggt	23	2	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:73237030C>T	uc002jni.1	-	11	1064	c.1055G>A	c.(1054-1056)GGC>GAC	p.G352D	GGA3_uc002jnj.1_Missense_Mutation_p.G319D|GGA3_uc010wrw.1_Missense_Mutation_p.G230D|GGA3_uc002jnk.1_Missense_Mutation_p.G280D|GGA3_uc010wrx.1_Missense_Mutation_p.G230D|GGA3_uc010wry.1_Missense_Mutation_p.G280D	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	352	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GATTGGGATGCCTGAGGAGGG	0.647											OREG0024730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	73237030	C	T	73237030	3	4	74	1	0	0	0	0	1	0	0	0	6354	739	26	2	1232	2	GGA3	17	73237030	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	288601	73237030	7958180	1549	51820											
SRP68	6730	broad.mit.edu	37	chr17	74068513	74068513	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaccgccgccgccactgccAccgccgccgccactgccgcc	9	25	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:74068513A>G	uc002jqk.1	-	1	95	c.60T>C	c.(58-60)GGT>GGC	p.G20G	SRP68_uc010wsu.1_5'UTR|SRP68_uc002jql.1_Silent_p.G20G|GALR2_uc002jqm.1_5'Flank	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	20	Poly-Gly.				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						cgccactgccaccgccgccgc	0.393													G	74068513	A	G	74068513	2	3	74	1	0	0	0	0	0	0	0	1	15155	146	6	3		3	SRP68	17	74068513	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	831483	74068513	7126697	1550	51821											
USP36	57602	broad.mit.edu	37	chr17	76803391	76803391	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcttaggtgaggtagagaGgacaacatccctgctgtccc	13	10	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:76803391G>T	uc002jvz.1	-	14	2060	c.1735C>A	c.(1735-1737)CTC>ATC	p.L579I	USP36_uc002jwa.1_Missense_Mutation_p.L579I|USP36_uc002jwb.1_Missense_Mutation_p.L216I|USP36_uc002jwc.1_Missense_Mutation_p.L279I	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	579					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GAGGTAGAGAGGACAACATCC	0.627													T	76803391	G	T	76803391	3	4	74	1	0	0	0	0	1	0	0	0	17064	1000	35	5	1664	5	USP36	17	76803391	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2734878	76803391	4391819	1551	51822											
CBX2	84733	broad.mit.edu	37	chr17	77758039	77758039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgaaccggatgacccagaGccaggcccaggctgccagca	12	15	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:77758039G>A	uc002jxc.2	+	5	839	c.797G>A	c.(796-798)AGC>AAC	p.S266N		NM_005189	NP_005180	Q14781	CBX2_HUMAN	chromobox homolog 2 isoform 1	266					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ATGACCCAGAGCCAGGCCCAG	0.652													A	77758039	G	A	77758039	3	1	74	1	0	0	0	0	1	0	0	0	2718	971	34	2	1163	2	CBX2	17	77758039	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	954648	77758039	3437171	1552	51823											
RNF213	57674	broad.mit.edu	37	chr17	78327386	78327386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcacatcaggggaggtgGcagaggtggcagaggaggcc	19	9	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:78327386G>A	uc002jyh.1	+	9	4940	c.4717G>A	c.(4717-4719)GCA>ACA	p.A1573T	uc002jyi.1_RNA|RNF213_uc010dhw.1_5'Flank	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGGGAGGTGGCAGAGGTGGC	0.572													A	78327386	G	A	78327386	3	1	74	1	0	0	0	0	1	0	0	0	13477	1203	42	2	10947	2	RNF213	17	78327386	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	569347	78327386	2867824	1553	51824											
AZI1	22994	broad.mit.edu	37	chr17	79164804	79164804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagctggcccttcagctccGagcaccgctcctgaagcttc	9	17	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:79164804G>A	uc002jzp.1	-	23	3055	c.2855C>T	c.(2854-2856)TCG>TTG	p.S952L	AZI1_uc002jzm.1_Missense_Mutation_p.S384L|AZI1_uc002jzn.1_Missense_Mutation_p.S949L|AZI1_uc002jzo.1_Missense_Mutation_p.S913L|AZI1_uc010wum.1_Missense_Mutation_p.S916L|AZI1_uc002jzq.2_Missense_Mutation_p.S100L	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	952					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTTCAGCTCCGAGCACCGCTC	0.677													A	79164804	G	A	79164804	3	1	74	1	0	0	0	0	1	0	0	0	1240	1059	37	1	412	1	AZI1	17	79164804	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	837418	79164804	2030406	1554	51825											
BAHCC1	57597	broad.mit.edu	37	chr17	79409626	79409626	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgaggcctgtgccgtggcAggggagggcaaggaccggca	20	11	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:79409626A>G	uc002kaf.2	+	3	1251	c.1251A>G	c.(1249-1251)GCA>GCG	p.A417A	BAHCC1_uc002kae.2_5'Flank	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BAH domain and coiled-coil containing 1	417							DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			GTGCCGTGGCAGGGGAGGGCA	0.706													G	79409626	A	G	79409626	2	3	74	1	0	0	0	0	0	0	0	1	1296	175	7	3		3	BAHCC1	17	79409626	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	244822	79409626	1785584	1555	51826											
C17orf70	80233	broad.mit.edu	37	chr17	79512780	79512780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccctgcttgcctctcggaCgatgaggtgaacgttggcgc	13	13	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:79512780C>T	uc002kaq.2	-	6	2357	c.2302G>A	c.(2302-2304)GTC>ATC	p.V768I	C17orf70_uc002kao.1_Missense_Mutation_p.V417I|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Missense_Mutation_p.V617I	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	768					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			ovary(1)|skin(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GCCTCTCGGACGATGAGGTGA	0.657													T	79512780	C	T	79512780	3	4	74	1	0	0	0	0	1	0	0	0	1877	536	19	1	359	1	C17orf70	17	79512780	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	103154	79512780	1682430	1556	51827											
C17orf70	80233	broad.mit.edu	37	chr17	79517945	79517945	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacagcactggaaggaagTggggggctgcaggctttcct	16	9	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:79517945T>C	uc002kaq.2	-	3	630	c.575A>G	c.(574-576)CAC>CGC	p.H192R	C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Missense_Mutation_p.H41R	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	192					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			ovary(1)|skin(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TGGAAGGAAGTGGGGGGCTGC	0.692													C	79517945	T	C	79517945	3	2	74	1	0	0	0	0	1	0	0	0	1877	1696	59	3	2098	3	C17orf70	17	79517945	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	5165	79517945	1677265	1557	51828											
LRRC45	201255	broad.mit.edu	37	chr17	79987011	79987011	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaggagagtgagaaggccAtgcaggagcgggtgcagagg	21	5	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:79987011A>G	uc002kde.2	+	13	1591	c.1351A>G	c.(1351-1353)ATG>GTG	p.M451V	RAC3_uc002kdf.2_5'Flank	NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	451	Potential.					centrosome				pancreas(1)	1	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TGAGAAGGCCATGCAGGAGCG	0.662													G	79987011	A	G	79987011	3	3	74	1	0	0	0	0	1	0	0	0	9002	217	8	3	1401	3	LRRC45	17	79987011	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	469066	79987011	1208199	1558	51829											
FASN	2194	broad.mit.edu	37	chr17	80039054	80039054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcaccgctggcctcatccGcctttgaggacagctcctgc	10	17	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:80039054G>A	uc002kdu.2	-	38	6698	c.6581C>T	c.(6580-6582)GCG>GTG	p.A2194V	FASN_uc002kdv.1_RNA	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	2194					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGCCTCATCCGCCTTTGAGGA	0.687													A	80039054	G	A	80039054	3	1	74	1	0	0	0	0	1	0	0	0	5683	1087	38	1	978	1	FASN	17	80039054	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	52043	80039054	1156156	1559	51830											
NARF	26502	broad.mit.edu	37	chr17	80442718	80442718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgaaggaggacaaagtgaCgcgtcatgatggagccagct	14	8	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:80442718C>T	uc002kfg.3	+	9	1003	c.863C>T	c.(862-864)ACG>ATG	p.T288M	NARF_uc002kff.3_Missense_Mutation_p.T229M|NARF_uc010wvp.1_3'UTR|NARF_uc010dit.2_Missense_Mutation_p.T334M|NARF_uc002kfj.3_Missense_Mutation_p.T240M|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Missense_Mutation_p.T334M|NARF_uc002kfk.2_RNA	NM_012336	NP_036468	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor isoform a	288						lamin filament	lamin binding			skin(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GACAAAGTGACGCGTCATGAT	0.512													T	80442718	C	T	80442718	3	4	74	1	0	0	0	0	1	0	0	0	10167	536	19	1	1039	1	NARF	17	80442718	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	403664	80442718	752492	1560	51831											
TBCD	6904	broad.mit.edu	37	chr17	80763856	80763856	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgacgacgaagatgaCgacgtcccagagggggtgga	17	7	0	5			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr17:80763856C>T	uc002kfz.2	+	10	1186	c.1056C>T	c.(1054-1056)GAC>GAT	p.D352D	TBCD_uc002kfx.1_Silent_p.D335D|TBCD_uc002kfy.1_Silent_p.D352D	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	352					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			acgaagatgacgacgTCCCAG	0.537													T	80763856	C	T	80763856	2	4	74	1	0	0	0	0	0	0	0	1	15630	535	19	1		1	TBCD	17	80763856	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	321138	80763856	431354	1561	51832											
THOC1	9984	broad.mit.edu	37	chr18	224147	224147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgggtgctgttctcttcCgaattattctcgtaggtttg	10	10	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:224147C>T	uc002kkj.3	-	16	1281	c.1241G>A	c.(1240-1242)CGG>CAG	p.R414Q	THOC1_uc002kkk.3_RNA|THOC1_uc002kkh.3_Missense_Mutation_p.R38Q	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	THO complex 1	414	Nuclear localization signal.				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			ovary(1)	1		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TGTTCTCTTCCGAATTATTCT	0.368													T	224147	C	T	224147	3	4	74	1	0	0	0	0	1	0	0	0	15861	652	23	1	756	1	THOC1	18	224147	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08		224147	77853101	1562	51833											
COLEC12	81035	broad.mit.edu	37	chr18	335079	335079	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgccgccacgctctccGgggggaccagctggtccaat	12	16	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:335079G>A	uc002kkm.2	-	6	1694	c.1479C>T	c.(1477-1479)CCC>CCT	p.P493P		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	493	Collagen-like 2.|Extracellular (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CACGCTCTCCGGGGGGACCAG	0.672													A	335079	G	A	335079	2	1	74	1	0	0	0	0	0	0	0	1	3712	1103	39	1		1	COLEC12	18	335079	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	110932	335079	77742169	1563	51834											
DLGAP1	9229	broad.mit.edu	37	chr18	3879345	3879345	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccgcctgctcgctgatggTgttgtaggcctccaggaagt	13	12	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:3879345T>C	uc002kmf.2	-	1	791	c.724A>G	c.(724-726)ACC>GCC	p.T242A	DLGAP1_uc010wyz.1_Missense_Mutation_p.T242A|DLGAP1_uc002kmk.2_Missense_Mutation_p.T242A|uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	242					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				TCGCTGATGGTGTTGTAGGCC	0.647													C	3879345	T	C	3879345	3	2	74	1	0	0	0	0	1	0	0	0	4559	1696	59	3	2304	3	DLGAP1	18	3879345	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	3544266	3879345	74197903	1564	51835											
L3MBTL4	91133	broad.mit.edu	37	chr18	6241451	6241451	+	Splice_Site	DEL	A	A	-													atttatcttttctataacctAaaaaaagcacagattactca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:6241450_6241450TA>T	uc002kmz.4	-	8	621	c.461_splice	c.e8-1	p.G154_splice	L3MBTL4_uc002kmy.4_Splice_Site_p.G154_splice|L3MBTL4_uc010dkt.3_Splice_Site_p.G154_splice	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	154					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTCTATAACCTAAAAAAAGCA	0.323													-	6241451	A	-	6241451	8	5	74	1	0	1	0	1	0	0	1	0	8594	377	13	0		0	L3MBTL4	18	6241451	Splice_Site	DEL	A	TCGA-BR-8361-01A-11D-2340-08	2362106	6241451	71835797	1565	51836											
LRRC30	339291	broad.mit.edu	37	chr18	7231375	7231375	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaactcaatctgtctcAcaaccagctccgggttctcc	6	16	4	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:7231375A>G	uc010wzk.1	+	1	239	c.239A>G	c.(238-240)CAC>CGC	p.H80R		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	80	LRR 1.									ovary(1)|liver(1)	2						AATCTGTCTCACAACCAGCTC	0.592													G	7231375	A	G	7231375	3	3	74	1	0	0	0	0	1	0	0	0	8985	159	6	3	241	3	LRRC30	18	7231375	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	989924	7231375	70845873	1566	51837											
KIAA0802	23255	broad.mit.edu	37	chr18	8796287	8796287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactggaaatgcacagcctgGctttgcaaaacaccctccat	7	13	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:8796287G>A	uc002knr.2	+	9	2210	c.2068G>A	c.(2068-2070)GCT>ACT	p.A690T	KIAA0802_uc002knq.2_Missense_Mutation_p.A649T|KIAA0802_uc002kns.2_Missense_Mutation_p.A20T	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1000											0						GCACAGCCTGGCTTTGCAAAA	0.488													A	8796287	G	A	8796287	3	1	74	1	0	0	0	0	1	0	0	0	8194	1203	42	2	2094	2	KIAA0802	18	8796287	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1564912	8796287	69280961	1567	51838											
KIAA0802	23255	broad.mit.edu	37	chr18	8798182	8798182	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagaccacgacagtgacCgaggctgtggctttccagtg	13	13	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:8798182C>T	uc002knr.2	+	10	2471	c.2329C>T	c.(2329-2331)CGA>TGA	p.R777*	KIAA0802_uc002knq.2_Nonsense_Mutation_p.R736*|KIAA0802_uc002kns.2_Nonsense_Mutation_p.R107*	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1087											0						CGACAGTGACCGAGGCTGTGG	0.652													T	8798182	C	T	8798182	4	4	74	1	0	0	0	0	0	1	0	0	8194	644	23	1	2359	1	KIAA0802	18	8798182	Nonsense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1895	8798182	69279066	1568	51839											
KIAA0802	23255	broad.mit.edu	37	chr18	8825987	8825987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaattcccgaggaaggtcGcctagccccattggggtggg	14	12	0	0	rs145849851		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:8825987G>A	uc002knr.2	+	15	4621	c.4479G>A	c.(4477-4479)TCG>TCA	p.S1493S	KIAA0802_uc002knq.2_Silent_p.S1452S|KIAA0802_uc002kns.2_Silent_p.S833S	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1803											0						GAGGAAGGTCGCCTAGCCCCA	0.657													A	8825987	G	A	8825987	2	1	74	1	0	0	0	0	0	0	0	1	8194	1074	38	1		1	KIAA0802	18	8825987	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	27805	8825987	69251261	1569	51840											
ANKRD12	23253	broad.mit.edu	37	chr18	9254818	9254819	+	Frame_Shift_Ins	INS	-	-	G													tcagaaaagaccagagaggaINSggggaactttaggaaatctt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:9254818_9254819insG	uc002knv.2	+	9	1810_1811	c.1553_1554insG	c.(1552-1554)GAGfs	p.E518fs	ANKRD12_uc002knw.2_Frame_Shift_Ins_p.E495fs|ANKRD12_uc002knx.2_Frame_Shift_Ins_p.E495fs|ANKRD12_uc010dkx.1_Frame_Shift_Ins_p.E225fs	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	518						nucleus				ovary(2)|central_nervous_system(1)	3						ACCAGAGAGGAGGGGAACTTTA	0.267													G	9254819	-	G	9254818	7	5	74	1	0	1	1	0	0	0	0	0	640	304	11	0	1583	0	ANKRD12	18	9254818	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	428831	9254818	68822430	1570	51841	215	2									
ANKRD12	23253	broad.mit.edu	37	chr18	9254819	9254820	+	Frame_Shift_Ins	INS	-	-	G													cagaaaagaccagagaggagINSgggaactttaggaaatcttt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:9254818_9254819A>AG	uc002knv.3	+	8	1817_1818	c.1553_1554A>AG	c.(1552-1554)gagfs	p.E518fs	ANKRD12_uc002knw.3_Frame_Shift_Ins_p.E495fs|ANKRD12_uc002knx.3_Frame_Shift_Ins_p.E495fs|ANKRD12_uc010dkx.1_Frame_Shift_Ins_p.E225fs	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	518						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ACCAGAGAGGAGGGGAACTTTA	0.342													G	9254820	-	G	9254819	7	5	74	1	0	1	1	0	0	0	0	0	640	991	35	0	1584	0	ANKRD12	18	9254819	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1	9254819	68822429	1571	51842	215	2									
NAPG	8774	broad.mit.edu	37	chr18	10539823	10539823	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcatgatgtatctagaaaAcggcaccccagacacagcag	9	12	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:10539823A>G	uc002kon.2	+	6	550	c.323A>G	c.(322-324)AAC>AGC	p.N108S	NAPG_uc010wzr.1_Missense_Mutation_p.N26S|NAPG_uc002koo.2_Missense_Mutation_p.N21S|NAPG_uc002kop.2_Missense_Mutation_p.N21S	NM_003826	NP_003817	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment	108					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding				0						TATCTAGAAAACGGCACCCCA	0.468													G	10539823	A	G	10539823	3	3	74	1	0	0	0	0	1	0	0	0	10164	43	2	3	345	3	NAPG	18	10539823	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1285004	10539823	67537425	1572	51843											
GNAL	2774	broad.mit.edu	37	chr18	11868561	11868561	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcacagctatcatttaCgtcgcagcctgcagtagcta	9	11	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:11868561C>T	uc010dkz.2	+	10	945	c.699C>T	c.(697-699)TAC>TAT	p.Y233Y	GNAL_uc002kqc.2_Silent_p.Y310Y|GNAL_uc002kqd.2_Silent_p.Y233Y|GNAL_uc010wzt.1_Silent_p.Y26Y	NM_001142339	NP_001135811	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein),	233					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						CTATCATTTACGTCGCAGCCT	0.463													T	11868561	C	T	11868561	2	4	74	1	0	0	0	0	0	0	0	1	6507	547	19	1		1	GNAL	18	11868561	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1328738	11868561	66208687	1573	51844											
CABYR	26256	broad.mit.edu	37	chr18	21736534	21736534	+	Frame_Shift_Del	DEL	A	A	-													agaccacctctggcatgtctAaaaaatctgtagagtctgta							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:21736533_21736533TA>T	uc002kux.3	+	3	1220	c.1068_1068TA>T	c.(1066-1068)tctfs	p.S356fs	CABYR_uc021uig.1_Intron|CABYR_uc010xbb.1_Frame_Shift_Del_p.S258fs|CABYR_uc002kuy.3_Intron|CABYR_uc002kuz.3_Intron|CABYR_uc002kva.3_Frame_Shift_Del_p.S338fs|CABYR_uc002kvb.3_Intron|CABYR_uc002kvc.3_Intron|CABYR_uc010dlw.3_Non-coding_Transcript	NM_012189	NP_036321	O75952	CABYR_HUMAN	Homo sapiens calcium binding tyrosine-(Y)-phosphorylation regulated (CABYR), transcript variant 1, mRNA.	356					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	SH3 domain binding|cAMP-dependent protein kinase regulator activity|calcium ion binding|enzyme binding|protein heterodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CTGGCATGTCTAAAAAATCTG	0.403													-	21736534	A	-	21736534	7	5	74	1	0	1	0	1	0	0	0	0	2536	363	13	0	1079	0	CABYR	18	21736534	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	9867973	21736534	56340714	1574	51845											
FAM59A	64762	broad.mit.edu	37	chr18	29867407	29867407	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacacacagaccgagagtcGgtggaaggactgggtgagct	15	8	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:29867407G>A	uc002kxl.2	-	4	1209	c.1153C>T	c.(1153-1155)CGA>TGA	p.R385*	FAM59A_uc002kxk.1_Nonsense_Mutation_p.R385*	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	385										ovary(1)|skin(1)	2						ACCGAGAGTCGGTGGAAGGAC	0.577													A	29867407	G	A	29867407	4	1	74	1	0	0	0	0	0	1	0	0	5592	1124	39	1	1486	1	FAM59A	18	29867407	Nonsense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	8130873	29867407	48209841	1575	51846											
C18orf34	374864	broad.mit.edu	37	chr18	30803107	30803107	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcaagggttttcttccccTtttttcgtaattttttcttt	4	9	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:30803107T>C	uc002kxn.2	-	17	2037	c.1895A>G	c.(1894-1896)AAG>AGG	p.K632R	C18orf34_uc010dme.1_Missense_Mutation_p.K146R|C18orf34_uc010xbr.1_Missense_Mutation_p.K632R|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Intron|C18orf34_uc002kxp.2_Missense_Mutation_p.K632R	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	632										ovary(1)	1						TTTCTTCCCCTTTTTTCGTAA	0.274													C	30803107	T	C	30803107	3	2	74	1	0	0	0	0	1	0	0	0	1902	1609	56	3	732	3	C18orf34	18	30803107	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	935700	30803107	47274141	1576	51847											
C18orf34	374864	broad.mit.edu	37	chr18	30847010	30847010	+	Frame_Shift_Del	DEL	T	T	-													agaaagctcaatatcccatgTttttttctttaagaaaagaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:30847010delT	uc002kxn.2	-	13	1421	c.1279delA	c.(1279-1281)ACAfs	p.T427fs	C18orf34_uc010dme.1_5'UTR|C18orf34_uc010xbr.1_Frame_Shift_Del_p.T427fs|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Frame_Shift_Del_p.T427fs|C18orf34_uc002kxp.2_Frame_Shift_Del_p.T427fs	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	427										ovary(1)	1						ATATCCCATGTTTTTTTCTTT	0.269													-	30847010	T	-	30847010	7	5	74	1	0	1	0	1	0	0	0	0	1902	1725	60	0	1364	0	C18orf34	18	30847010	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	43903	30847010	47230238	1577	51848											
C18orf34	374864	broad.mit.edu	37	chr18	30873148	30873148	+	Frame_Shift_Del	DEL	T	T	-													ttgatagagaatgtaattcaTtttttgatgactttgtttcc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:30873148delT	uc002kxn.2	-	11	1293	c.1151delA	c.(1150-1152)AATfs	p.N384fs	C18orf34_uc010xbr.1_Frame_Shift_Del_p.N384fs|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Frame_Shift_Del_p.N384fs|C18orf34_uc002kxp.2_Frame_Shift_Del_p.N384fs	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	384	Potential.									ovary(1)	1						ATGTAATTCATTTTTTGATGA	0.259													-	30873148	T	-	30873148	7	5	74	1	0	1	0	1	0	0	0	0	1902	1493	52	0	1500	0	C18orf34	18	30873148	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	26138	30873148	47204100	1578	51849											
ASXL3	80816	broad.mit.edu	37	chr18	31263451	31263451	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacactaacttgagggcattAataaataaacatacgtttgc	6	7	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:31263451A>G	uc010dmg.1	+	8	853	c.798A>G	c.(796-798)TTA>TTG	p.L266L	ASXL3_uc002kxq.2_5'UTR	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						TGAGGGCATTAATAAATAAAC	0.413													G	31263451	A	G	31263451	2	3	74	1	0	0	0	0	0	0	0	1	1068	359	13	3		3	ASXL3	18	31263451	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	390303	31263451	46813797	1579	51850											
NOL4	8715	broad.mit.edu	37	chr18	31673513	31673513	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agagttcacagctgacatccGtgttgaatcactcatgtcaa	8	10	4	3	rs141918449		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:31673513G>C	uc010dmi.2	-	5	917	c.688C>G	c.(688-690)CGG>GGG	p.R230G	NOL4_uc002kxr.3_Missense_Mutation_p.R66G|NOL4_uc010xbt.1_Missense_Mutation_p.R156G|NOL4_uc010dmh.2_Missense_Mutation_p.R156G|NOL4_uc010xbu.1_Missense_Mutation_p.R230G|NOL4_uc002kxt.3_Missense_Mutation_p.R230G|NOL4_uc010xbw.1_Missense_Mutation_p.R116G	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	230						nucleolus	RNA binding			ovary(3)	3						GCTGACATCCGTGTTGAATCA	0.353													C	31673513	G	C	31673513	3	2	74	1	0	0	0	0	1	0	0	0	10524	1144	40	5	1256	5	NOL4	18	31673513	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	410062	31673513	46403735	1580	51851											
ZNF24	7572	broad.mit.edu	37	chr18	32917733	32917733	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagtcctaccatcatcAtctgaaataaacagaaaatg	4	9	4	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:32917733A>G	uc002kyt.2	-	4	727	c.570T>C	c.(568-570)GAT>GAC	p.D190D	ZNF24_uc002kys.2_Silent_p.D190D	NM_006965	NP_008896	P17028	ZNF24_HUMAN	zinc finger protein 24	190					myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TACCATCATCATCTGAAATAA	0.343													G	32917733	A	G	32917733	2	3	74	1	0	0	0	0	0	0	0	1	17789	231	8	3		3	ZNF24	18	32917733	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1244220	32917733	45159515	1581	51852											
SETBP1	26040	broad.mit.edu	37	chr18	42531516	42531516	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaagagcagagctgccaccCccatccgaagaacccaaaac	7	17	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:42531516C>A	uc010dni.2	+	4	2507	c.2211C>A	c.(2209-2211)CCC>CCA	p.P737P		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	737						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGCTGCCACCCCCATCCGAAG	0.547									Schinzel-Giedion_syndrome				A	42531516	C	A	42531516	2	1	74	1	0	0	0	0	0	0	0	1	14129	610	22	5		5	SETBP1	18	42531516	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	9613783	42531516	35545732	1582	51853											
RNF165	494470	broad.mit.edu	37	chr18	44013214	44013214	+	Frame_Shift_Del	DEL	C	C	-													tgccgccacttccacctgggCcccccgcagccgcagcagct							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:44013213_44013213GC>G	uc002lcb.1	+	1	173	c.122_122GC>G	c.(121-123)ggcfs	p.G41fs	RNF165_uc002lby.1_5'UTR|RNF165_uc010dnn.1_Intron	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	41							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		TTCCACCTGGGCCCCCCGCAG	0.682													-	44013214	C	-	44013214	7	5	74	1	0	1	0	1	0	0	0	0	13456	726	26	0	129	0	RNF165	18	44013214	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	1481698	44013214	34064034	1583	51854											
RNF165	494470	broad.mit.edu	37	chr18	44013421	44013421	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caccagcaatacctcctgcaGcagcagctcctggaagccca	8	17	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:44013421G>C	uc002lcb.1	+	2	381	c.330G>C	c.(328-330)CAG>CAC	p.Q110H	RNF165_uc002lby.1_Missense_Mutation_p.Q43H|RNF165_uc010dnn.1_Intron	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	ring finger protein 165	110							zinc ion binding				0				READ - Rectum adenocarcinoma(1;0.0873)		ACCTCCTGCAGCAGCAGCTCC	0.532													C	44013421	G	C	44013421	3	2	74	1	0	0	0	0	1	0	0	0	13456	962	34	5	336	5	RNF165	18	44013421	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	207	44013421	34063827	1584	51855											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260371	44260371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacgcggatggacacgtcGgtgttgcgcgtgttgtagaa	16	7	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:44260371G>A	uc002lcj.1	-	7	1333	c.765C>T	c.(763-765)ACC>ACT	p.T255T	ST8SIA5_uc002lci.1_Silent_p.T102T|ST8SIA5_uc010xcy.1_Silent_p.T291T|ST8SIA5_uc010xcz.1_Silent_p.T224T	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	255	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						TGGACACGTCGGTGTTGCGCG	0.597													A	44260371	G	A	44260371	2	1	74	1	0	0	0	0	0	0	0	1	15234	1103	39	1		1	ST8SIA5	18	44260371	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	246950	44260371	33816877	1585	51856											
ST8SIA5	29906	broad.mit.edu	37	chr18	44262012	44262012	+	Frame_Shift_Del	DEL	G	G	-													atggtgtacttctctgagatGgggggcaggttgcacctgca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:44262012delG	uc002lcj.1	-	6	1153	c.585delC	c.(583-585)CCCfs	p.P195fs	ST8SIA5_uc002lci.1_Frame_Shift_Del_p.P42fs|ST8SIA5_uc010xcy.1_Frame_Shift_Del_p.P231fs|ST8SIA5_uc010xcz.1_Frame_Shift_Del_p.P164fs	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	195	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						TCTCTGAGATGGGGGGCAGGT	0.572													-	44262012	G	-	44262012	7	5	74	1	0	1	0	1	0	0	0	0	15234	1335	47	0	553	0	ST8SIA5	18	44262012	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	1641	44262012	33815236	1586	51857											
PIAS2	9063	broad.mit.edu	37	chr18	44444187	44444187	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaaataaaaaacttctctTgaaatcgctgaatactgctt	4	8	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:44444187T>C	uc002lck.2	-	3	682	c.524A>G	c.(523-525)CAA>CGA	p.Q175R	PIAS2_uc010dnp.2_Intron|PIAS2_uc002lcl.2_Missense_Mutation_p.Q175R|PIAS2_uc010xda.1_5'UTR|PIAS2_uc002lcm.2_Missense_Mutation_p.Q175R|PIAS2_uc002lcn.1_Missense_Mutation_p.Q179R	NM_004671	NP_004662	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT X isoform	175	PINIT.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						AAACTTCTCTTGAAATCGCTG	0.323													C	44444187	T	C	44444187	3	2	74	1	0	0	0	0	1	0	0	0	11876	1812	63	3	1464	3	PIAS2	18	44444187	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	182175	44444187	33633061	1587	51858											
ZBTB7C	201501	broad.mit.edu	37	chr18	45567053	45567053	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatcttcgtcgtcgtcAtcgtcctccttgtcatcctc	5	16	5	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:45567053A>G	uc002lda.2	-	1	442	c.426T>C	c.(424-426)GAT>GAC	p.D142D	ZBTB7C_uc002ldb.2_Silent_p.D142D|ZBTB7C_uc010dnu.2_Silent_p.D151D|ZBTB7C_uc010dnv.2_Silent_p.D164D|ZBTB7C_uc010dnw.2_Silent_p.D142D|ZBTB7C_uc010dnx.1_Silent_p.D142D|ZBTB7C_uc010dny.1_Silent_p.D142D|ZBTB7C_uc010dnz.1_Silent_p.D164D|ZBTB7C_uc010dob.1_Silent_p.D142D|ZBTB7C_uc010doc.1_Silent_p.D151D|ZBTB7C_uc010dod.1_Silent_p.D164D|ZBTB7C_uc010doe.1_Silent_p.D142D|ZBTB7C_uc010dof.1_Silent_p.D142D|ZBTB7C_uc010dog.1_Silent_p.D142D|ZBTB7C_uc010doh.1_Silent_p.D151D|ZBTB7C_uc010doi.1_Silent_p.D142D|ZBTB7C_uc010doj.1_Silent_p.D151D|ZBTB7C_uc010dok.1_Silent_p.D191D|ZBTB7C_uc010dol.1_Silent_p.D151D|ZBTB7C_uc010doa.1_Silent_p.D164D|ZBTB7C_uc010don.1_Silent_p.D150D|ZBTB7C_uc010doo.1_Silent_p.D142D|ZBTB7C_uc010dop.1_Silent_p.D142D|ZBTB7C_uc010doq.1_Silent_p.D151D|ZBTB7C_uc010dor.1_Silent_p.D164D|ZBTB7C_uc010dos.1_Silent_p.D142D|ZBTB7C_uc010dot.1_Silent_p.D142D|ZBTB7C_uc010dou.1_Silent_p.D151D|ZBTB7C_uc010dom.1_Silent_p.D151D	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	142	Glu-rich.|Asp-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						cgtcgtcgtcatcgtcctcct	0.279													G	45567053	A	G	45567053	2	3	74	1	0	0	0	0	0	0	0	1	17552	214	8	3		3	ZBTB7C	18	45567053	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1122866	45567053	32510195	1588	51859											
CXXC1	30827	broad.mit.edu	37	chr18	47810865	47810865	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagggtccttggcatcagccCtctctgggtgtttccattta	10	12	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:47810865C>A	uc002leq.3	-	9	1821	c.1088G>T	c.(1087-1089)AGG>ATG	p.R363M	MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.R220M|CXXC1_uc002ler.3_Missense_Mutation_p.R367M|CXXC1_uc010doy.2_Missense_Mutation_p.R363M|CXXC1_uc002les.2_Missense_Mutation_p.R363M	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	363					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						GGCATCAGCCCTCTCTGGGTG	0.602													A	47810865	C	A	47810865	3	1	74	1	0	0	0	0	1	0	0	0	4097	681	24	5	910	5	CXXC1	18	47810865	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2243812	47810865	30266383	1589	51860											
SMAD4	4089	broad.mit.edu	37	chr18	48575133	48575133	+	Frame_Shift_Del	DEL	A	A	-													gatcttcacaaaaatgaactAaaacatgttaaatattgtca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:48575133delA	uc010xdp.1	+	3	865	c.327delA	c.(325-327)CTAfs	p.L109fs	SMAD4_uc010xdo.1_RNA	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	109	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(4)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AAAATGAACTAAAACATGTTA	0.373									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				-	48575133	A	-	48575133	7	5	74	1	0	1	0	1	0	0	0	0	14760	349	13	0	333	0	SMAD4	18	48575133	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	764268	48575133	29502115	1590	51861											
SMAD4	4089	broad.mit.edu	37	chr18	48593495	48593496	+	Frame_Shift_Del	DEL	AG	AG	-													tacagagttactacttagacAgagaagctgggcgtgcacct							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:48593495_48593496delAG	uc010xdp.1	+	10	1784_1785	c.1246_1247delAG	c.(1246-1248)AGAfs	p.R416fs	SMAD4_uc002lfb.3_Frame_Shift_Del_p.R261fs	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	416	MH2.			R->S: No effect on heterotrimerization. Partially diminished transcriptional activation.	BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(2)|p.R416S(1)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CTACTTAGACAGAGAAGCTGGG	0.416									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				-	48593496	AG	-	48593495	7	5	74	1	0	1	0	1	0	0	0	0	14760	180	7	0	1280	0	SMAD4	18	48593495	Frame_Shift_Del	DEL	AG	TCGA-BR-8361-01A-11D-2340-08	18362	48593495	29483753	1591	51862											
DCC	1630	broad.mit.edu	37	chr18	50741932	50741932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttagtgccaagtgccccgCctcagaacgtctccctggaa	9	14	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:50741932C>T	uc002lfe.1	+	12	2463	c.1876C>T	c.(1876-1878)CCT>TCT	p.P626S	DCC_uc010xdr.1_Missense_Mutation_p.P474S|DCC_uc010dpf.1_Missense_Mutation_p.P281S	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	626	Extracellular (Potential).|Fibronectin type-III 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAGTGCCCCGCCTCAGAACGT	0.398													T	50741932	C	T	50741932	3	4	74	1	0	0	0	0	1	0	0	0	4282	739	26	2	1922	2	DCC	18	50741932	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2148437	50741932	27335316	1592	51863											
DCC	1630	broad.mit.edu	37	chr18	50976949	50976949	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctgcttgtgatcattgtGgtcaccgttggtgtcatcac	10	10	4	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:50976949G>A	uc002lfe.1	+	23	3896	c.3309G>A	c.(3307-3309)GTG>GTA	p.V1103V	DCC_uc010dpf.1_Silent_p.V738V	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1103	Helical; (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.V1103L(1)		skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGATCATTGTGGTCACCGTTG	0.527													A	50976949	G	A	50976949	2	1	74	1	0	0	0	0	0	0	0	1	4282	1335	47	4		4	DCC	18	50976949	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	235017	50976949	27100299	1593	51864											
MBD2	8932	broad.mit.edu	37	chr18	51690978	51690978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggttcttttccacagcagCggagacttgccctgtgattg	12	10	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:51690978C>T	uc002lfg.1	-	5	1253	c.1024G>A	c.(1024-1026)GCT>ACT	p.A342T		NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2 isoform 1	342					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding				0				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	TCCACAGCAGCGGAGACTTGC	0.478													T	51690978	C	T	51690978	3	4	74	1	0	0	0	0	1	0	0	0	9343	768	27	1	219	1	MBD2	18	51690978	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	714029	51690978	26386270	1594	51865											
LMAN1	3998	broad.mit.edu	37	chr18	57021815	57021815	+	Splice_Site	DEL	A	A	-													tatagcaggattatttttctAaaaaaaaggaaaacatttta							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:57021814_57021814TA>T	uc002lhz.3	-	4	510	c.478_splice	c.e4-1	p.K160_splice	LMAN1_uc010xek.1_Splice_Site_p.K160_splice	NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	160	L-type lectin-like.				ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	ATTATTTTTCTAAAAAAAAGG	0.289													-	57021815	A	-	57021815	8	5	74	1	0	1	0	1	0	0	1	0	8836	377	13	0		0	LMAN1	18	57021815	Splice_Site	DEL	A	TCGA-BR-8361-01A-11D-2340-08	5330837	57021815	21055433	1595	51866											
CCBE1	147372	broad.mit.edu	37	chr18	57106992	57106992	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagccccgtgggccgggctGcccaggagggcctggcatac	17	14	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:57106992G>A	uc002lib.2	-	8	902	c.832C>T	c.(832-834)CAG>TAG	p.Q278*	CCBE1_uc010dpq.2_Intron|CCBE1_uc002lia.2_Nonsense_Mutation_p.Q131*	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	278	Collagen-like 1.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			skin(2)|ovary(1)	3		Colorectal(73;0.175)				GGGCCGGGCTGCCCAGGAGGG	0.587													A	57106992	G	A	57106992	4	1	74	1	0	0	0	0	0	1	0	0	2731	1328	46	2	404	2	CCBE1	18	57106992	Nonsense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	85177	57106992	20970256	1596	51867											
CDH20	28316	broad.mit.edu	37	chr18	59221521	59221521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaacatcgtccgctacgacGacgagggcggcggcgaggag	17	11	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:59221521G>A	uc010dps.1	+	11	2011	c.1999G>A	c.(1999-2001)GAC>AAC	p.D667N	CDH20_uc002lif.2_Missense_Mutation_p.D661N	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	667	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				CCGCTACGACGACGAGGGCGG	0.642													A	59221521	G	A	59221521	3	1	74	1	0	0	0	0	1	0	0	0	3106	1058	37	1	2041	1	CDH20	18	59221521	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2114529	59221521	18855727	1597	51868											
BCL2	596	broad.mit.edu	37	chr18	60985607	60985607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagtcgtcgccggcctggCggagggtcaggtggaccaca	17	11	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:60985607C>T	uc002lit.1	-	2	786	c.293G>A	c.(292-294)CGC>CAC	p.R98H	BCL2_uc002liu.1_Missense_Mutation_p.R98H|BCL2_uc002liv.1_Missense_Mutation_p.R98H	NM_000633	NP_000624	P10415	BCL2_HUMAN	B-cell lymphoma protein 2 alpha isoform	98	BH3.				activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)	1		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	GCCGGCCTGGCGGAGGGTCAG	0.612			T	IGH@	NHL|CLL								T	60985607	C	T	60985607	3	4	74	1	0	0	0	0	1	0	0	0	1365	768	27	1	467	1	BCL2	18	60985607	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1764086	60985607	17091641	1598	51869											
DSEL	92126	broad.mit.edu	37	chr18	65181248	65181248	+	Frame_Shift_Del	DEL	T	T	-													ttcctcagtaataacccataTtttttccaggtatttttgtc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:65181247_65181247AT>A	uc002lke.1	-	1	1853	c.629_629AT>T	c.(628-630)atafs	p.I210fs	LOC643542_uc021ulh.1_5'Flank|DSEL_uc021ulg.1_Frame_Shift_Del_p.I210fs	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	200						integral to membrane	isomerase activity|sulfotransferase activity	p.I210fs*30(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AATAACCCATATTTTTTCCAG	0.388													-	65181248	T	-	65181248	7	5	74	1	0	1	0	1	0	0	0	0	4775	1493	52	0	3044	0	DSEL	18	65181248	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	4195641	65181248	12896000	1599	51870											
ZNF407	55628	broad.mit.edu	37	chr18	72345425	72345425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgagaagggcatgctggCgtctgaggaactgtcacagt	14	8	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:72345425C>T	uc002llw.2	+	1	2507	c.2450C>T	c.(2449-2451)GCG>GTG	p.A817V	ZNF407_uc010xfc.1_Missense_Mutation_p.A817V|ZNF407_uc010dqu.1_Missense_Mutation_p.A817V|ZNF407_uc002llu.2_Missense_Mutation_p.A816V	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	817					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGCATGCTGGCGTCTGAGGAA	0.443													T	72345425	C	T	72345425	3	4	74	1	0	0	0	0	1	0	0	0	17884	768	27	1	2452	1	ZNF407	18	72345425	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	7164177	72345425	5731823	1600	51871											
ZNF407	55628	broad.mit.edu	37	chr18	72346151	72346151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactacgcggtgactcgtcGcgagatgaccaggcatgcag	13	11	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:72346151G>A	uc002llw.2	+	1	3233	c.3176G>A	c.(3175-3177)CGC>CAC	p.R1059H	ZNF407_uc010xfc.1_Missense_Mutation_p.R1059H|ZNF407_uc010dqu.1_Missense_Mutation_p.R1059H|ZNF407_uc002llu.2_Missense_Mutation_p.R1058H	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1059	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GTGACTCGTCGCGAGATGACC	0.453													A	72346151	G	A	72346151	3	1	74	1	0	0	0	0	1	0	0	0	17884	1087	38	1	3178	1	ZNF407	18	72346151	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	726	72346151	5731097	1601	51872											
CTDP1	9150	broad.mit.edu	37	chr18	77475105	77475105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcctgggcaacggctgtGccgacaggaaggaggcggag	20	10	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:77475105G>A	uc002lnh.1	+	8	1792	c.1645G>A	c.(1645-1647)GCC>ACC	p.A549T	CTDP1_uc002lni.1_Missense_Mutation_p.A549T|CTDP1_uc010drd.1_Missense_Mutation_p.A549T	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	549					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CAACGGCTGTGCCGACAGGAA	0.632													A	77475105	G	A	77475105	3	1	74	1	0	0	0	0	1	0	0	0	4002	1319	46	2	1675	2	CTDP1	18	77475105	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	5128954	77475105	602143	1602	51873											
KCNG2	26251	broad.mit.edu	37	chr18	77659162	77659162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgcgccttcctgcgcgcGccactcaacatcattgacat	8	15	2	1	rs140841838		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr18:77659162G>A	uc010xfl.1	+	2	747	c.747G>A	c.(745-747)GCG>GCA	p.A249A		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	249					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		TCCTGCGCGCGCCACTCAACA	0.677													A	77659162	G	A	77659162	2	1	74	1	0	0	0	0	0	0	0	1	8028	1074	38	1		1	KCNG2	18	77659162	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	184057	77659162	418086	1603	51874											
ABCA7	10347	broad.mit.edu	37	chr19	1047260	1047260	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcctgctcagcgccttcttCtcccgcgccaacctggctgc	8	19	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:1047260C>T	uc002lqw.3	+	15	2181	c.1950C>T	c.(1948-1950)TTC>TTT	p.F650F	ABCA7_uc010dsb.1_Silent_p.F512F	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	650					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCCTTCTTCTCCCGCGCCA	0.687													T	1047260	C	T	1047260	2	4	74	1	0	0	0	0	0	0	0	1	37	912	32	4		4	ABCA7	19	1047260	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08		1047260	58081723	1604	51875											
HMHA1	23526	broad.mit.edu	37	chr19	1080463	1080463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagacgcctctttctccagCcgggcgaggacaccaggttc	12	14	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:1080463C>T	uc002lqz.1	+	15	2060	c.1829C>T	c.(1828-1830)GCC>GTC	p.A610V	HMHA1_uc010xgd.1_Missense_Mutation_p.A626V|HMHA1_uc010xge.1_Missense_Mutation_p.A478V|HMHA1_uc002lra.1_Missense_Mutation_p.A450V|HMHA1_uc002lrb.1_Missense_Mutation_p.A493V|HMHA1_uc002lrc.1_Missense_Mutation_p.A245V|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	610					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTCTCCAGCCGGGCGAGGA	0.692													T	1080463	C	T	1080463	3	4	74	1	0	0	0	0	1	0	0	0	7240	753	26	2	1887	2	HMHA1	19	1080463	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	33203	1080463	58048520	1605	51876											
MEX3D	399664	broad.mit.edu	37	chr19	1555600	1555600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgggtggccggcgtgcGgcaggcgggacactcgggct	21	12	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:1555600G>A	uc010dsn.2	-	2	1918	c.1918C>T	c.(1918-1920)CGC>TGC	p.R640C		NM_203304	NP_976049	Q86XN8	MEX3D_HUMAN	ring finger and KH domain containing 1	640	RING-type.				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGGCGTGCGGCAGGCGGGA	0.572													A	1555600	G	A	1555600	3	1	74	1	0	0	0	0	1	0	0	0	9512	1116	39	1	104	1	MEX3D	19	1555600	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	475137	1555600	57573383	1606	51877											
ADAT3	113179	broad.mit.edu	37	chr19	1912977	1912977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagccctgcgccatgtgcGccatggccctggtgcacgca	14	16	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:1912977G>A	uc002luh.2	+	2	1111	c.883G>A	c.(883-885)GCC>ACC	p.A295T	SCAMP4_uc002lui.1_Intron|SCAMP4_uc002luj.2_Intron|SCAMP4_uc002luk.2_Intron|SCAMP4_uc010dss.2_Intron	NM_138422	NP_612431	Q96EY9	ADAT3_HUMAN	tRNA-specific adenosine deaminase 3	295					tRNA processing		hydrolase activity|zinc ion binding			breast(1)|skin(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCATGTGCGCCATGGCCCT	0.711													A	1912977	G	A	1912977	3	1	74	1	0	0	0	0	1	0	0	0	286	1087	38	1	885	1	ADAT3	19	1912977	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	357377	1912977	57216006	1607	51878											
SLC39A3	29985	broad.mit.edu	37	chr19	2737117	2737118	+	Frame_Shift_Ins	INS	-	-	AG													cctcctccaaaggtgttgcaINSgagagagaggatctttttcg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:2737116_2737117C>CAG	uc010xgy.1	-	1	393_394	c.139_140G>CTG	c.(139-141)tgcfs	p.C47fs	SLC39A3_uc002lwg.3_Frame_Shift_Ins_p.C47fs|SLC39A3_uc002lwh.3_Frame_Shift_Ins_p.C47fs|SLC39A3_uc021umu.1_Frame_Shift_Ins_p.C47fs	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 3 (SLC39A3), transcript variant 1, mRNA.	47						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity	p.L46F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAAGGTGTTGCAGAGAGAGAGG	0.574													AG	2737118	-	AG	2737117	7	5	74	1	0	1	1	0	0	0	0	0	14619	188	7	0	921	0	SLC39A3	19	2737117	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	824140	2737117	56391866	1608	51879											
ZNF554	115196	broad.mit.edu	37	chr19	2827741	2827741	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaggaacgtggtctccctgGgtaaggcaagcatcactaat	11	10	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:2827741G>T	uc002lwm.2	+	3	451	c.253G>T	c.(253-255)GAA>TAA	p.E85*	ZNF554_uc002lwl.2_Nonsense_Mutation_p.E34*	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	85	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCTCCCTGGGTAAGGCAAG	0.343													T	2827741	G	T	2827741	4	4	74	1	0	0	0	0	0	1	0	0	17982	1246	43	5	263	5	ZNF554	19	2827741	Nonsense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	90624	2827741	56301242	1609	51880											
C19orf29	58509	broad.mit.edu	37	chr19	3623901	3623901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcccgcagccgcagccGctcctgcaggctctgctgct	10	20	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:3623901G>A	uc002lyh.2	-	2	480	c.427C>T	c.(427-429)CGG>TGG	p.R143W	C19orf29_uc010dtn.2_5'Flank|C19orf29_uc002lyi.3_Missense_Mutation_p.R143W|C19orf29_uc010dto.2_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	143	Potential.					catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCGCAGCCGCTCCTGCAGG	0.711													A	3623901	G	A	3623901	3	1	74	1	0	0	0	0	1	0	0	0	1918	1086	38	1	1885	1	C19orf29	19	3623901	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	796160	3623901	55505082	1610	51881											
MAP2K2	5605	broad.mit.edu	37	chr19	4117504	4117504	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccagctctgagatcctttcGaagtcatcgtctttgagttc	8	12	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:4117504G>A	uc002lzk.2	-	2	470	c.216C>T	c.(214-216)TTC>TTT	p.F72F		NM_030662	NP_109587	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	72	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATCCTTTCGAAGTCATCGT	0.597									Cardiofaciocutaneous_syndrome				A	4117504	G	A	4117504	2	1	74	1	0	0	0	0	0	0	0	1	9237	1049	37	1		1	MAP2K2	19	4117504	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	493603	4117504	55011479	1611	51882											
CREB3L3	84699	broad.mit.edu	37	chr19	4164608	4164608	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctggctaaagaaggcatcAccctgcccactcagctgccc	9	16	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:4164608A>G	uc002lzl.2	+	5	801	c.685A>G	c.(685-687)ACC>GCC	p.T229A	CREB3L3_uc002lzm.2_Missense_Mutation_p.T219A|CREB3L3_uc010xib.1_Missense_Mutation_p.T218A|CREB3L3_uc010xic.1_Missense_Mutation_p.T220A	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	229	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAGGCATCACCCTGCCCAC	0.617													G	4164608	A	G	4164608	3	3	74	1	0	0	0	0	1	0	0	0	3858	159	6	3	703	3	CREB3L3	19	4164608	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	47104	4164608	54964375	1612	51883											
CHAF1A	10036	broad.mit.edu	37	chr19	4422729	4422729	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagcgggagaaggatgagaAggagaaggcggagaagcagc	20	4	0	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:4422729A>C	uc002mal.2	+	5	1284	c.1184A>C	c.(1183-1185)AAG>ACG	p.K395T		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	395	Arg/Glu/Lys-rich.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		aaggatgagaaggagaaggCG	0.418								Chromatin_Structure					C	4422729	A	C	4422729	3	2	74	1	0	0	0	0	1	0	0	0	3311	72	3	5	1202	5	CHAF1A	19	4422729	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	258121	4422729	54706254	1613	51884											
TICAM1	148022	broad.mit.edu	37	chr19	4817366	4817366	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcttggtatttggagaggTggtatcttctacagaaagtt	13	5	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:4817366T>C	uc002mbi.2	-	2	1275	c.1024A>G	c.(1024-1026)ACC>GCC	p.T342A		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	342	Pro-rich.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TTTGGAGAGGTGGTATCTTCT	0.478													C	4817366	T	C	4817366	3	2	74	1	0	0	0	0	1	0	0	0	15889	1696	59	3	1118	3	TICAM1	19	4817366	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	394637	4817366	54311617	1614	51885											
KDM4B	23030	broad.mit.edu	37	chr19	5110825	5110825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgaaggccaagctcctcCgcaggtgagttgccaaggga	14	12	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:5110825C>T	uc002mbq.3	+	10	1337	c.1111C>T	c.(1111-1113)CGC>TGC	p.R371C	KDM4B_uc010xil.1_Missense_Mutation_p.R371C|KDM4B_uc010xim.1_Missense_Mutation_p.R371C|KDM4B_uc002mbr.3_Missense_Mutation_p.R129C	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	371					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						CAAGCTCCTCCGCAGGTGAGT	0.721													T	5110825	C	T	5110825	3	4	74	1	0	0	0	0	1	0	0	0	8129	652	23	1	1141	1	KDM4B	19	5110825	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	293459	5110825	54018158	1615	51886											
ZNRF4	148066	broad.mit.edu	37	chr19	5456007	5456007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgctacgactgcaccttcGacctcaaggtgctgaacgcc	10	16	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:5456007G>A	uc002mca.3	+	1	582	c.505G>A	c.(505-507)GAC>AAC	p.D169N		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	169	Extracellular (Potential).|PA.					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CTGCACCTTCGACCTCAAGGT	0.667													A	5456007	G	A	5456007	3	1	74	1	0	0	0	0	1	0	0	0	18211	1058	37	1	507	1	ZNRF4	19	5456007	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	345182	5456007	53672976	1616	51887											
SAFB2	9667	broad.mit.edu	37	chr19	5590363	5590363	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccccagccatcacgggaGtcccggccgtggcgctctgg	13	19	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:5590363G>A	uc002mcd.2	-	18	2663	c.2451C>T	c.(2449-2451)GAC>GAT	p.D817D		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	817	Interacts with SAFB1.|Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CATCACGGGAGTCCCGGCCGT	0.687													A	5590363	G	A	5590363	2	1	74	1	0	0	0	0	0	0	0	1	13807	1020	36	4		4	SAFB2	19	5590363	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	134356	5590363	53538620	1617	51888											
C19orf70	125988	broad.mit.edu	37	chr19	5679395	5679395	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gatgggaaagtaaatctttgGaggggctgggagctgggaaa	18	3	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:5679395G>C	uc002mch.1	-	3	634	c.220C>G	c.(220-222)CCA>GCA	p.P74A	C19orf70_uc002mci.1_3'UTR|HSD11B1L_uc002mcj.2_5'Flank|HSD11B1L_uc002mcu.2_5'Flank|HSD11B1L_uc002mcl.2_5'Flank|HSD11B1L_uc002mcm.2_5'Flank|HSD11B1L_uc002mcq.2_5'Flank|HSD11B1L_uc002mcr.2_5'Flank|HSD11B1L_uc002mcs.2_5'Flank|HSD11B1L_uc010dug.2_5'Flank|HSD11B1L_uc002mct.2_5'Flank|HSD11B1L_uc002mck.2_5'Flank|HSD11B1L_uc002mco.2_5'Flank|HSD11B1L_uc002mcn.2_5'Flank|HSD11B1L_uc002mcp.2_5'Flank	NM_205767	NP_991330	Q5XKP0	QIL1_HUMAN	hypothetical protein LOC125988	74							protein binding				0						TAAATCTTTGGAGGGGCTGGG	0.567													C	5679395	G	C	5679395	3	2	74	1	0	0	0	0	1	0	0	0	1947	1174	41	5	144	5	C19orf70	19	5679395	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	89032	5679395	53449588	1618	51889											
RFX2	5990	broad.mit.edu	37	chr19	6007164	6007164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgggcaggacggcgccctCggggtcttcgtcactgtgga	16	12	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:6007164C>T	uc002meb.2	-	12	1530	c.1261G>A	c.(1261-1263)GAG>AAG	p.E421K	RFX2_uc002mec.2_Missense_Mutation_p.E396K|RFX2_uc002med.1_3'UTR	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						ACGGCGCCCTCGGGGTCTTCG	0.667													T	6007164	C	T	6007164	3	4	74	1	0	0	0	0	1	0	0	0	13263	893	31	1	938	1	RFX2	19	6007164	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	327769	6007164	53121819	1619	51890											
SLC25A41	284427	broad.mit.edu	37	chr19	6433605	6433605	+	Frame_Shift_Del	DEL	G	G	-													tgggggtggaggcggaggttGggggggaggcggggctttga							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:6433604_6433604TG>T	uc010dus.3	-	0	187	c.101_101CA>A	c.(100-102)caafs	p.Q34fs	SLC25A41_uc010dut.3_5'UTR	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN	Homo sapiens solute carrier family 25, member 41 (SLC25A41), mRNA.	34	Pro-rich.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						aggcggaggttgggggggagg	0.572													-	6433605	G	-	6433605	7	5	74	1	0	1	0	1	0	0	0	0	14506	1357	47	0	1040	0	SLC25A41	19	6433605	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	426441	6433605	52695378	1620	51891											
SLC25A23	79085	broad.mit.edu	37	chr19	6454638	6454638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggcacctgccactgcgcCggccaccagctgtttccacc	9	20	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:6454638C>T	uc002mex.1	-	5	716	c.574G>A	c.(574-576)GGC>AGC	p.G192S	SLC25A23_uc002mev.2_RNA|SLC25A23_uc010xjd.1_Missense_Mutation_p.G9S	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	solute carrier family 25, member 23	192	Solcar 1.|Helical; Name=1; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)|pancreas(1)	2						GCCACTGCGCCGGCCACCAGC	0.627													T	6454638	C	T	6454638	3	4	74	1	0	0	0	0	1	0	0	0	14486	652	23	1	856	1	SLC25A23	19	6454638	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	21033	6454638	52674345	1621	51892											
SLC25A23	79085	broad.mit.edu	37	chr19	6459596	6459596	+	Frame_Shift_Del	DEL	C	C	-													ccagctcctcgaacaggcgaCcccagcgctgccgccgctcc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:6459595_6459595AC>A	uc002mex.1	-	0	187	c.45_45GT>T	c.(43-45)ggtfs	p.G15fs	SLC25A23_uc002mev.3_Non-coding_Transcript	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 (SLC25A23), nuclear gene encoding mitochondrial protein, mRNA.	15	EF-hand 1.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CGAACAGGCGACCCCAGCGCT	0.771													-	6459596	C	-	6459596	7	5	74	1	0	1	0	1	0	0	0	0	14486	507	18	0	1402	0	SLC25A23	19	6459596	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	4958	6459596	52669387	1622	51893											
ARHGEF18	23370	broad.mit.edu	37	chr19	7531846	7531846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgatccccgtctgcccaccGtcctggagtcggaggtaggc	13	16	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:7531846G>A	uc002mgi.2	+	14	2636	c.2383G>A	c.(2383-2385)GTC>ATC	p.V795I	ARHGEF18_uc010xjm.1_Missense_Mutation_p.V637I|ARHGEF18_uc002mgh.2_Missense_Mutation_p.V637I|ARHGEF18_uc002mgj.1_Missense_Mutation_p.V438I	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	795					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				TCTGCCCACCGTCCTGGAGTC	0.637													A	7531846	G	A	7531846	3	1	74	1	0	0	0	0	1	0	0	0	901	1145	40	1	2437	1	ARHGEF18	19	7531846	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1072250	7531846	51597137	1623	51894											
STXBP2	6813	broad.mit.edu	37	chr19	7707183	7707183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcacgttccaggccatggCgtatgatctgctggacatag	12	11	2	1	rs140252723		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:7707183C>T	uc002mha.3	+	9	803	c.758C>T	c.(757-759)GCG>GTG	p.A253V	STXBP2_uc002mhb.3_Missense_Mutation_p.A250V|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Missense_Mutation_p.A264V|STXBP2_uc010dvk.2_Missense_Mutation_p.A221V|STXBP2_uc002mhc.3_Missense_Mutation_p.A21V|STXBP2_uc002mhe.1_5'Flank	NM_006949	NP_008880	Q15833	STXB2_HUMAN	syntaxin binding protein 2 isoform a	253					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			central_nervous_system(1)	1						CAGGCCATGGCGTATGATCTG	0.612													T	7707183	C	T	7707183	3	4	74	1	0	0	0	0	1	0	0	0	15352	768	27	1	792	1	STXBP2	19	7707183	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	175337	7707183	51421800	1624	51895											
SNAPC2	6618	broad.mit.edu	37	chr19	7986933	7986933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccaggtgctcaccatcgCggccacggaaccggtcaccc	11	18	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:7986933C>T	uc002miw.1	+	4	409	c.386C>T	c.(385-387)GCG>GTG	p.A129V	SNAPC2_uc002mix.1_RNA	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex,	129					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity				0						CTCACCATCGCGGCCACGGAA	0.632													T	7986933	C	T	7986933	3	4	74	1	0	0	0	0	1	0	0	0	14835	768	27	1	400	1	SNAPC2	19	7986933	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	279750	7986933	51142050	1625	51896											
FBN3	84467	broad.mit.edu	37	chr19	8171110	8171110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcagctcttggcactcGtcgatgtctgtcaggaagta	12	11	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:8171110G>A	uc002mjf.2	-	37	4716	c.4695C>T	c.(4693-4695)GAC>GAT	p.D1565D		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1565	EGF-like 24; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CTTGGCACTCGTCGATGTCTG	0.587													A	8171110	G	A	8171110	2	1	74	1	0	0	0	0	0	0	0	1	5704	1136	40	1		1	FBN3	19	8171110	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	184177	8171110	50957873	1626	51897											
ADAMTS10	81794	broad.mit.edu	37	chr19	8657677	8657677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtgtgcgtctggcacagCgtgccctcggcggccgggat	17	12	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:8657677C>T	uc002mkj.1	-	13	1831	c.1557G>A	c.(1555-1557)ACG>ACA	p.T519T	ADAMTS10_uc002mki.1_5'Flank|ADAMTS10_uc002mkk.1_Silent_p.T151T	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	519	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						TCTGGCACAGCGTGCCCTCGG	0.706													T	8657677	C	T	8657677	2	4	74	1	0	0	0	0	0	0	0	1	256	755	27	1		1	ADAMTS10	19	8657677	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	486567	8657677	50471306	1627	51898											
ACTL9	284382	broad.mit.edu	37	chr19	8808703	8808703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccagtccacgacgatgcCgctgcgcaggggttgcacca	12	15	0	0	rs145751201		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:8808703C>T	uc002mkl.2	-	1	470	c.349G>A	c.(349-351)GGC>AGC	p.G117S		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	117						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						ACGACGATGCCGCTGCGCAGG	0.692													T	8808703	C	T	8808703	3	4	74	1	0	0	0	0	1	0	0	0	203	652	23	1	905	1	ACTL9	19	8808703	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	151026	8808703	50320280	1628	51899											
ACTL9	284382	broad.mit.edu	37	chr19	8808765	8808765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgcctcgccgatgaacGtctgcagcccggactgcccc	13	17	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:8808765G>A	uc002mkl.2	-	1	408	c.287C>T	c.(286-288)ACG>ATG	p.T96M		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	96						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						GCCGATGAACGTCTGCAGCCC	0.687													A	8808765	G	A	8808765	3	1	74	1	0	0	0	0	1	0	0	0	203	1145	40	1	967	1	ACTL9	19	8808765	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	62	8808765	50320218	1629	51900											
MUC16	94025	broad.mit.edu	37	chr19	8969323	8969323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtaattggtggtgcctgGctgggctttgtcctgggaat	16	7	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:8969323G>A	uc002mkp.2	-	79	43225	c.43021C>T	c.(43021-43023)CCA>TCA	p.P14341S	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.P1141S|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTGGTGCCTGGCTGGGCTTTG	0.493													A	8969323	G	A	8969323	3	1	74	1	0	0	0	0	1	0	0	0	9973	1203	42	2	526	2	MUC16	19	8969323	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	160558	8969323	50159660	1630	51901											
MUC16	94025	broad.mit.edu	37	chr19	8993496	8993496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcctgtggggtcagggcGgtgggtgcagatggcatcca	20	8	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:8993496G>A	uc002mkp.2	-	66	41797	c.41593C>T	c.(41593-41595)CGC>TGC	p.R13865C	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.R682C|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13868	Extracellular (Potential).|SEA 12.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGGTCAGGGCGGTGGGTGCAG	0.592													A	8993496	G	A	8993496	3	1	74	1	0	0	0	0	1	0	0	0	9973	1116	39	1	2006	1	MUC16	19	8993496	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	24173	8993496	50135487	1631	51902											
ZNF317	57693	broad.mit.edu	37	chr19	9271917	9271917	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagaaaccgtacgaatgCgatcactgtgggaaggcctt	15	8	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:9271917C>T	uc002mku.2	+	7	1871	c.1596C>T	c.(1594-1596)TGC>TGT	p.C532C	ZNF317_uc002mkv.2_Silent_p.C391C|ZNF317_uc002mkw.2_Silent_p.C500C|ZNF317_uc002mkx.2_Silent_p.C447C|ZNF317_uc002mky.2_Silent_p.C415C	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	532	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CGTACGAATGCGATCACTGTG	0.567													T	9271917	C	T	9271917	2	4	74	1	0	0	0	0	0	0	0	1	17832	776	27	1		1	ZNF317	19	9271917	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	278421	9271917	49857066	1632	51903											
OR7E24	26648	broad.mit.edu	37	chr19	9362175	9362175	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caccccctgcactaccgaatCatcatgaacccacgcctctg	5	19	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:9362175C>T	uc002mlb.1	+	1	456	c.456C>T	c.(454-456)ATC>ATT	p.I152I		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E,	152	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						ACTACCGAATCATCATGAACC	0.438													T	9362175	C	T	9362175	2	4	74	1	0	0	0	0	0	0	0	1	11221	816	29	4		4	OR7E24	19	9362175	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	90258	9362175	49766808	1633	51904											
ZNF426	79088	broad.mit.edu	37	chr19	9639888	9639888	+	Frame_Shift_Del	DEL	T	T	-													attccttacatttgtagggcTtttttgcattgagggtttct							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:9639887_9639887CT>C	uc002mlq.3	-	7	1098	c.834_834AG>G	c.(832-834)aagfs	p.K278fs	ZNF426_uc010dws.3_Frame_Shift_Del_p.K240fs	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	Homo sapiens zinc finger protein 426 (ZNF426), mRNA.	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ATTTGTAGGGCTTTTTTGCAT	0.423													-	9639888	T	-	9639888	7	5	74	1	0	1	0	1	0	0	0	0	17897	1609	56	0	835	0	ZNF426	19	9639888	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	277713	9639888	49489095	1634	51905											
TYK2	7297	broad.mit.edu	37	chr19	10472526	10472526	+	Frame_Shift_Del	DEL	G	G	-													acggtccctgccaggcacgaGggggtcctcgtcatccatct							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:10472525_10472525AG>A	uc002moc.4	-	12	2258	c.1880_1880CT>T	c.(1879-1881)ctcfs	p.L627fs	TYK2_uc010dxe.3_Frame_Shift_Del_p.L442fs|TYK2_uc002mod.2_Frame_Shift_Del_p.L627fs	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	627	Protein kinase 1.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCCAGGCACGAGGGGGTCCTC	0.662													-	10472526	G	-	10472526	7	5	74	1	0	1	0	1	0	0	0	0	16807	1000	35	0	1736	0	TYK2	19	10472526	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	832638	10472526	48656457	1635	51906											
TYK2	7297	broad.mit.edu	37	chr19	10476480	10476480	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccggctggaagtcccgcaGgaacctgcggaagacgttcc	14	14	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:10476480G>T	uc002moc.3	-	7	1102	c.724C>A	c.(724-726)CTG>ATG	p.L242M	TYK2_uc010dxe.2_Missense_Mutation_p.L57M|TYK2_uc002mod.2_Missense_Mutation_p.L242M	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	242	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AAGTCCCGCAGGAACCTGCGG	0.662													T	10476480	G	T	10476480	3	4	74	1	0	0	0	0	1	0	0	0	16807	991	35	5	2915	5	TYK2	19	10476480	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	3954	10476480	48652503	1636	51907											
ILF3	3609	broad.mit.edu	37	chr19	10792683	10792683	+	Frame_Shift_Del	DEL	C	C	-													ctgtagaggagaaggcagagCccccccaggctatgaatgcc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:10792682_10792682GC>G	uc002mpn.3	+	11	1511	c.1194_1194GC>G	c.(1192-1194)gagfs	p.E398fs	ILF3_uc010xli.1_5'UTR|ILF3_uc002mpm.2_Frame_Shift_Del_p.E398fs|ILF3_uc002mpl.2_Frame_Shift_Del_p.E398fs|ILF3_uc002mpk.2_Frame_Shift_Del_p.E398fs|ILF3_uc002mpo.3_Frame_Shift_Del_p.E398fs|ILF3_uc002mpp.3_Frame_Shift_Del_p.E219fs	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	398	DRBM 1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	p.Q401fs*39(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGAAGGCAGAGCCCCCCCAGG	0.607													-	10792683	C	-	10792683	7	5	74	1	0	1	0	1	0	0	0	0	7712	739	26	0	1237	0	ILF3	19	10792683	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	316203	10792683	48336300	1637	51908											
CCDC151	115948	broad.mit.edu	37	chr19	11533253	11533255	+	In_Frame_Del	DEL	CTT	CTT	-													tcggcgtgccgccgctcctcCttcttgagacgctcctgcgc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:11533253_11533255delCTT	uc002mrs.2	-	10	1461_1463	c.1318_1320delAAG	c.(1318-1320)AAGdel	p.K440del	CCDC151_uc002mrr.2_In_Frame_Del_p.K375del|CCDC151_uc010dxz.2_In_Frame_Del_p.K380del	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	440	Potential.									ovary(1)	1						GCCGCTCCTCCTTCTTGAGACGC	0.714													-	11533255	CTT	-	11533253	7	5	74	1	0	1	0	1	0	0	0	0	2786	680	24	0	483	0	CCDC151	19	11533253	In_Frame_Del	DEL	CTT	TCGA-BR-8361-01A-11D-2340-08	740570	11533253	47595730	1638	51909											
CCDC151	115948	broad.mit.edu	37	chr19	11541818	11541818	+	Frame_Shift_Del	DEL	A	A	-													atgttccactgagagctctcAaaaaaagccttccggtcacc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:11541817_11541817CA>C	uc002mrs.3	-	1	411	c.268_268TG>G	c.(268-270)gagfs	p.E90fs	CCDC151_uc002mrr.3_Frame_Shift_Del_p.E25fs|CCDC151_uc010dxz.3_Frame_Shift_Del_p.E90fs	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	Homo sapiens coiled-coil domain containing 151 (CCDC151), mRNA.	90										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TGAGAGCTCTCAAAAAAAGCC	0.537													-	11541818	A	-	11541818	7	5	74	1	0	1	0	1	0	0	0	0	2786	127	5	0	1568	0	CCDC151	19	11541818	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	8565	11541818	47587165	1639	51910											
ZNF823	55552	broad.mit.edu	37	chr19	11833336	11833336	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggacaatcaaagcctttcCcacatatcttacatttatgt	4	10	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:11833336C>A	uc002msm.2	-	4	1139	c.1013G>T	c.(1012-1014)GGG>GTG	p.G338V	ZNF823_uc010xmd.1_Missense_Mutation_p.G156V|ZNF823_uc010dyi.1_Missense_Mutation_p.G294V	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	ZFP-36 for a zinc finger protein	338	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						AAAGCCTTTCCCACATATCTT	0.408										HNSCC(68;0.2)			A	11833336	C	A	11833336	3	1	74	1	0	0	0	0	1	0	0	0	18176	623	22	5	823	5	ZNF823	19	11833336	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	291518	11833336	47295647	1640	51911											
MAN2B1	4125	broad.mit.edu	37	chr19	12759026	12759026	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccccgagattgtaggcggcgCcgccacccggggccagcacc	14	18	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:12759026C>G	uc002mub.2	-	21	2703	c.2627G>C	c.(2626-2628)GGC>GCC	p.G876A	MAN2B1_uc010dyv.1_Missense_Mutation_p.G875A	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	876					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						GTAGGCGGCGCCGCCACCCGG	0.716													G	12759026	C	G	12759026	3	3	74	1	0	0	0	0	1	0	0	0	9216	739	26	5	424	5	MAN2B1	19	12759026	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	925690	12759026	46369957	1641	51912											
TNPO2	30000	broad.mit.edu	37	chr19	12817053	12817053	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagtcggccagggtgccaAtggcgtcatagaggatgagc	16	9	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:12817053A>G	uc002muo.2	-	14	1810	c.1625T>C	c.(1624-1626)ATT>ACT	p.I542T	TNPO2_uc002mup.2_Missense_Mutation_p.I634T|TNPO2_uc002muq.2_Missense_Mutation_p.I542T|TNPO2_uc002mur.2_Missense_Mutation_p.I542T	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	542	HEAT 9.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						CAGGGTGCCAATGGCGTCATA	0.572													G	12817053	A	G	12817053	3	3	74	1	0	0	0	0	1	0	0	0	16333	101	4	3	1112	3	TNPO2	19	12817053	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	58027	12817053	46311930	1642	51913											
GCDH	2639	broad.mit.edu	37	chr19	13008601	13008601	+	Frame_Shift_Del	DEL	G	G	-													cgccaggcccgagacatgctGggggggaatgggatttctga							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:13008600_13008600TG>T	uc002mvq.3	+	10	1243	c.1166_1166TG>T	c.(1165-1167)ctgfs	p.L389fs	GCDH_uc002mvp.3_Frame_Shift_Del_p.L389fs|GCDH_uc010xmt.2_Frame_Shift_Del_p.L223fs|GCDH_uc010xmu.2_Frame_Shift_Del_p.L345fs	NM_000159	NP_000150	Q92947	GCDH_HUMAN	Homo sapiens glutaryl-CoA dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	389					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	p.M388I(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						CGAGACATGCTGGGGGGGAAT	0.602													-	13008601	G	-	13008601	7	5	74	1	0	1	0	1	0	0	0	0	6287	1335	47	0	1205	0	GCDH	19	13008601	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	191548	13008601	46120382	1643	51914											
CACNA1A	773	broad.mit.edu	37	chr19	13418632	13418632	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attgctgctggaaaagtatcGaagttggtgggaggagtccc	15	6	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:13418632G>A	uc010dze.2	-	15	2189	c.1953C>T	c.(1951-1953)TTC>TTT	p.F651F	CACNA1A_uc010dzc.2_Silent_p.F176F|CACNA1A_uc002mwy.3_Silent_p.F650F|CACNA1A_uc010xne.1_Silent_p.F176F	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	651	Extracellular (Potential).|II.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GAAAAGTATCGAAGTTGGTGG	0.557													A	13418632	G	A	13418632	2	1	74	1	0	0	0	0	0	0	0	1	2538	1049	37	1		1	CACNA1A	19	13418632	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	410031	13418632	45710351	1644	51915											
CACNA1A	773	broad.mit.edu	37	chr19	13616881	13616881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggtccgcgctctctgcGccattgactgcttgtacatc	9	15	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:13616881G>A	uc010dze.2	-	1	394	c.158C>T	c.(157-159)GCG>GTG	p.A53V	CACNA1A_uc002mwy.3_Missense_Mutation_p.A53V	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	53	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGCTCTCTGCGCCATTGACTG	0.677													A	13616881	G	A	13616881	3	1	74	1	0	0	0	0	1	0	0	0	2538	1087	38	1	7664	1	CACNA1A	19	13616881	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	198249	13616881	45512102	1645	51916											
CCDC130	81576	broad.mit.edu	37	chr19	13869981	13869981	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcatggcgaggccgaccgCagcacactcaagaaggcgct	14	13	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:13869981C>T	uc002mxb.1	+	9	971	c.468C>T	c.(466-468)CGC>CGT	p.R156R	CCDC130_uc010xnf.1_3'UTR|CCDC130_uc002mxc.1_Silent_p.R156R|CCDC130_uc002mxd.1_Silent_p.R11R|CCDC130_uc010dzf.1_Silent_p.R50R	NM_030818	NP_110445	P13994	CC130_HUMAN	coiled-coil domain containing 130	156					response to virus		protein binding				0			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			AGGCCGACCGCAGCACACTCA	0.627													T	13869981	C	T	13869981	2	4	74	1	0	0	0	0	0	0	0	1	2766	697	25	2		2	CCDC130	19	13869981	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	253100	13869981	45259002	1646	51917											
CC2D1A	54862	broad.mit.edu	37	chr19	14028985	14028985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagataccactgctgccgCtagacacttccgcgtggcta	12	13	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:14028985C>T	uc002mxo.2	+	7	1150	c.851C>T	c.(850-852)GCT>GTT	p.A284V	CC2D1A_uc002mxn.2_Missense_Mutation_p.A183V|CC2D1A_uc002mxp.2_Missense_Mutation_p.A284V|CC2D1A_uc010dzh.2_5'UTR|CC2D1A_uc002mxq.1_5'Flank	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	284	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			ACTGCTGCCGCTAGACACTTC	0.572													T	14028985	C	T	14028985	3	4	74	1	0	0	0	0	1	0	0	0	2726	797	28	2	877	2	CC2D1A	19	14028985	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	159004	14028985	45099998	1647	51918											
ZNF333	84449	broad.mit.edu	37	chr19	14830032	14830032	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagccttcaggcacagctcCtcactcactgtacacaaaag	6	14	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:14830032C>A	uc002mzn.2	+	12	2027	c.1893C>A	c.(1891-1893)TCC>TCA	p.S631S	ZNF333_uc002mzk.3_Silent_p.S522S	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	zinc finger protein 333	631	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GGCACAGCTCCTCACTCACTG	0.483													A	14830032	C	A	14830032	2	1	74	1	0	0	0	0	0	0	0	1	17847	668	24	5		5	ZNF333	19	14830032	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	801047	14830032	44298951	1648	51919											
EMR2	30817	broad.mit.edu	37	chr19	14863142	14863142	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaccgctgtcaataccTtgtgtccggtttgatcaatt	9	10	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:14863142T>G	uc002mzp.1	-	15	2243	c.1787A>C	c.(1786-1788)AAG>ACG	p.K596T	EMR2_uc010dzs.1_Missense_Mutation_p.K55T|EMR2_uc010xnw.1_Missense_Mutation_p.K538T|EMR2_uc002mzo.1_Missense_Mutation_p.K585T|EMR2_uc002mzq.1_Missense_Mutation_p.K536T|EMR2_uc002mzr.1_Missense_Mutation_p.K547T|EMR2_uc002mzs.1_Missense_Mutation_p.K454T|EMR2_uc002mzt.1_Missense_Mutation_p.K492T|EMR2_uc002mzu.1_Missense_Mutation_p.K503T|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	596	Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4						TGTCAATACCTTGTGTCCGGT	0.537													G	14863142	T	G	14863142	3	3	74	1	0	0	0	0	1	0	0	0	5105	1623	56	5	712	5	EMR2	19	14863142	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	33110	14863142	44265841	1649	51920											
OR1I1	126370	broad.mit.edu	37	chr19	15198171	15198171	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccctttgtgggctgcctcAcccagatgtatgccttccac	8	16	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:15198171A>G	uc010xoe.1	+	1	295	c.295A>G	c.(295-297)ACC>GCC	p.T99A		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I,	99	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3						GGGCTGCCTCACCCAGATGTA	0.572													G	15198171	A	G	15198171	3	3	74	1	0	0	0	0	1	0	0	0	10958	159	6	3	297	3	OR1I1	19	15198171	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	335029	15198171	43930812	1650	51921											
NOTCH3	4854	broad.mit.edu	37	chr19	15276888	15276888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaaggaagccagcattaGcggggtgaagccatctgcag	14	9	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:15276888G>A	uc002nan.2	-	30	5453	c.5377C>T	c.(5377-5379)CTA>TTA	p.L1793L		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1793	Cytoplasmic (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCCAGCATTAGCGGGGTGAAG	0.532													A	15276888	G	A	15276888	2	1	74	1	0	0	0	0	0	0	0	1	10550	962	34	2		2	NOTCH3	19	15276888	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	78717	15276888	43852095	1651	51922											
AKAP8L	26993	broad.mit.edu	37	chr19	15511794	15511794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtccgagcagtccgtgcGggtggctttgctatctggct	15	10	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:15511794G>A	uc002naw.1	-	6	976	c.877C>T	c.(877-879)CGC>TGC	p.R293C	AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Missense_Mutation_p.R232C|AKAP8L_uc002nay.1_Missense_Mutation_p.R293C|AKAP8L_uc002naz.2_Missense_Mutation_p.R141C	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	293						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			ovary(1)	1						CAGTCCGTGCGGGTGGCTTTG	0.602													A	15511794	G	A	15511794	3	1	74	1	0	0	0	0	1	0	0	0	458	1116	39	1	1099	1	AKAP8L	19	15511794	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	234906	15511794	43617189	1652	51923											
AKAP8L	26993	broad.mit.edu	37	chr19	15529797	15529797	+	Translation_Start_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctctgaacatccgacgctgcGatagctgctgctaaccacag	9	14	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:15529797G>C	uc002naw.1	-	1	37	c.-62C>G	c.(-64--60)ATCGC>ATGGC		AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Translation_Start_Site|AKAP8L_uc002nay.1_Translation_Start_Site	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like							cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			ovary(1)	1						CCGACGCTGCGATAGCTGCTG	0.647											OREG0025320	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	15529797	G	C	15529797	1	2	74	1	0	0	0	0	0	0	0	0	458	1073	37	5		5	AKAP8L	19	15529797	Translation_Start_Site	SNP	G	TCGA-BR-8361-01A-11D-2340-08	18003	15529797	43599186	1653	51924											
CYP4F2	8529	broad.mit.edu	37	chr19	16001193	16001193	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgaggctgatgtgctcAaacatatccaaacaggcact	9	10	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:16001193A>G	uc002nbs.1	-	6	626	c.576T>C	c.(574-576)TTT>TTC	p.F192F	CYP4F2_uc010xot.1_Silent_p.F43F|CYP4F2_uc010xou.1_Silent_p.F43F	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	192					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2						TGATGTGCTCAAACATATCCA	0.537													G	16001193	A	G	16001193	2	3	74	1	0	0	0	0	0	0	0	1	4188	127	5	3		3	CYP4F2	19	16001193	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	471396	16001193	43127790	1654	51925											
CHERP	10523	broad.mit.edu	37	chr19	16641614	16641614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcttgtcttcctccacgGccaagaagctggtgcagtag	12	12	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:16641614G>A	uc002nei.1	-	6	826	c.752C>T	c.(751-753)GCC>GTC	p.A251V	MED26_uc002nee.2_Intron	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	251	CID.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						TTCCTCCACGGCCAAGAAGCT	0.677													A	16641614	G	A	16641614	3	1	74	1	0	0	0	0	1	0	0	0	3336	1203	42	2	2046	2	CHERP	19	16641614	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	640421	16641614	42487369	1655	51926											
MED26	9441	broad.mit.edu	37	chr19	16687637	16687637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcacactgggctttccGcactgggcagcagctcgagc	13	15	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:16687637G>A	uc002nen.1	-	3	1265	c.1004C>T	c.(1003-1005)GCG>GTG	p.A335V	MED26_uc002nee.2_RNA	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	335					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			ovary(2)	2						TGGGCTTTCCGCACTGGGCAG	0.721													A	16687637	G	A	16687637	3	1	74	1	0	0	0	0	1	0	0	0	9444	1087	38	1	802	1	MED26	19	16687637	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	46023	16687637	42441346	1656	51927											
F2RL3	9002	broad.mit.edu	37	chr19	17001347	17001347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcagggctcttccaacGgtcgccgggggacaccgtgg	18	13	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:17001347G>A	uc002nfa.2	+	2	1248	c.1073G>A	c.(1072-1074)CGG>CAG	p.R358Q		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	358	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity				0						CTCTTCCAACGGTCGCCGGGG	0.647													A	17001347	G	A	17001347	3	1	74	1	0	0	0	0	1	0	0	0	5346	1116	39	1	1079	1	F2RL3	19	17001347	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	313710	17001347	42127636	1657	51928											
NR2F6	2063	broad.mit.edu	37	chr19	17343175	17343175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatggtcactggcccgagcCgtagggccagttgaaggtac	14	11	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:17343175C>T	uc002nfq.2	-	4	1323	c.1201G>A	c.(1201-1203)GGC>AGC	p.G401S		NM_005234	NP_005225	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	401	Important for dimerization (By similarity).|Ligand-binding (By similarity).				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding				0						TGGCCCGAGCCGTAGGGCCAG	0.632													T	17343175	C	T	17343175	3	4	74	1	0	0	0	0	1	0	0	0	10629	652	23	1	17	1	NR2F6	19	17343175	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	341828	17343175	41785808	1658	51929											
ANO8	57719	broad.mit.edu	37	chr19	17435799	17435799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaggaaggcaggcaggcGggtgtcgctgcctgtgggtg	21	8	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:17435799G>A	uc002ngf.2	-	17	3217	c.3058C>T	c.(3058-3060)CGC>TGC	p.R1020C	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	1020	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(3)	3						GCAGGCAGGCGGGTGTCGCTG	0.662													A	17435799	G	A	17435799	3	1	74	1	0	0	0	0	1	0	0	0	703	1116	39	1	648	1	ANO8	19	17435799	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	92624	17435799	41693184	1659	51930											
B3GNT3	10331	broad.mit.edu	37	chr19	17919075	17919075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcacagcctccaacccGcacgaggcccgcaaggtcaa	12	16	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:17919075G>A	uc002nhk.1	+	2	544	c.459G>A	c.(457-459)CCG>CCA	p.P153P	B3GNT3_uc002nhl.1_Silent_p.P153P|B3GNT3_uc010ebd.1_Silent_p.P153P|B3GNT3_uc010ebe.1_Silent_p.P153P	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal	153	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			upper_aerodigestive_tract(1)	1						CCTCCAACCCGCACGAGGCCC	0.667													A	17919075	G	A	17919075	2	1	74	1	0	0	0	0	0	0	0	1	1258	1074	38	1		1	B3GNT3	19	17919075	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	483276	17919075	41209908	1660	51931											
JAK3	3718	broad.mit.edu	37	chr19	17955109	17955109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaaaggagaaagataggcGctgggggggcccggggcccc	18	12	0	2	rs140784576		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:17955109G>A	uc002nhn.3	-	2	218	c.118C>T	c.(118-120)CGC>TGC	p.R40C	JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.R40C|JAK3_uc010xpx.1_Missense_Mutation_p.R40C|JAK3_uc010xpy.1_Missense_Mutation_p.R40C	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	40	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						AAAGATAGGCGCTGGGGGGGC	0.667		2	Mis		acute megakaryocytic leukemia|								A	17955109	G	A	17955109	3	1	74	1	0	0	0	0	1	0	0	0	7939	1087	38	1	3348	1	JAK3	19	17955109	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	36034	17955109	41173874	1661	51932											
PDE4C	5143	broad.mit.edu	37	chr19	18321960	18321960	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaggtctgagggacttcGggggatcttgctctggtacc	17	8	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:18321960G>A	uc010xqc.1	-	15	2398	c.1918C>T	c.(1918-1920)CGA>TGA	p.R640*	PDE4C_uc002nik.3_Nonsense_Mutation_p.R640*|PDE4C_uc002nil.3_Nonsense_Mutation_p.R640*|PDE4C_uc002nif.3_Nonsense_Mutation_p.R409*|PDE4C_uc002nig.3_Nonsense_Mutation_p.R355*|PDE4C_uc002nih.3_Nonsense_Mutation_p.R410*|PDE4C_uc010ebk.2_Nonsense_Mutation_p.R534*|PDE4C_uc002nii.3_Nonsense_Mutation_p.R608*|PDE4C_uc010ebl.2_Nonsense_Mutation_p.R354*	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	phosphodiesterase 4C isoform PDE4C-2	640					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|skin(2)|central_nervous_system(1)	5					Dyphylline(DB00651)	GAGGGACTTCGGGGGATCTTG	0.502													A	18321960	G	A	18321960	4	1	74	1	0	0	0	0	0	1	0	0	11641	1124	39	1	224	1	PDE4C	19	18321960	Nonsense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	366851	18321960	40807023	1662	51933											
LRRC25	126364	broad.mit.edu	37	chr19	18507766	18507766	+	Frame_Shift_Del	DEL	C	C	-													gcagcgtccatgccagggtgCcccccattcaagcaacctac							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:18507766delC	uc002niw.2	-	1	650	c.8delG	c.(7-9)GGCfs	p.G3fs	LRRC25_uc002nix.2_Frame_Shift_Del_p.G3fs	NM_145256	NP_660299	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25 precursor	3						integral to membrane					0						TGCCAGGGTGCCCCCCATTCA	0.612													-	18507766	C	-	18507766	7	5	74	1	0	1	0	1	0	0	0	0	8980	739	26	0	917	0	LRRC25	19	18507766	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	185806	18507766	40621217	1663	51934											
FKBP8	23770	broad.mit.edu	37	chr19	18644139	18644139	+	Frame_Shift_Del	DEL	C	C	-													ggggatggcctcactgtactCcccctgctgggccagcacct							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:18644139delC	uc002njk.1	-	7	1074	c.961delG	c.(961-963)GAGfs	p.E321fs	FKBP8_uc002nji.1_Frame_Shift_Del_p.E159fs|FKBP8_uc010xqi.1_Frame_Shift_Del_p.E350fs|FKBP8_uc002njj.1_Frame_Shift_Del_p.E322fs|FKBP8_uc002njl.1_Frame_Shift_Del_p.E322fs|FKBP8_uc002njm.1_Frame_Shift_Del_p.E321fs|FKBP8_uc010ebr.1_Frame_Shift_Del_p.E160fs|FKBP8_uc002njn.2_RNA	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	FK506-binding protein 8	321	TPR 3.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			ovary(1)	1						TCACTGTACTCCCCCTGCTGG	0.582													-	18644139	C	-	18644139	7	5	74	1	0	1	0	1	0	0	0	0	5914	864	30	0	289	0	FKBP8	19	18644139	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	136373	18644139	40484844	1664	51935											
NCAN	1463	broad.mit.edu	37	chr19	19351410	19351410	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccacaacccccgaccctgcAggctttgggcatgaaaacac	8	17	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:19351410A>G	uc002nlz.2	+	12	3509	c.3410_splice	c.e12-2	p.S1137_splice	NCAN_uc002nma.2_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor						axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			CCGACCCTGCAGGCTTTGGGC	0.612													G	19351410	A	G	19351410	5	3	74	1	0	0	0	0	0	0	1	0	10204	202	7	3	3450	3	NCAN	19	19351410	Splice_Site	SNP	A	TCGA-BR-8361-01A-11D-2340-08	707271	19351410	39777573	1665	51936											
TSSK6	83983	broad.mit.edu	37	chr19	19626094	19626094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgacgaagtccgggggcGctcgccgccggtccaccacc	14	16	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:19626094G>A	uc002nmr.2	-	1	376	c.143C>T	c.(142-144)GCG>GTG	p.A48V	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	48	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1						GTCCGGGGGCGCTCGCCGCCG	0.627													A	19626094	G	A	19626094	3	1	74	1	0	0	0	0	1	0	0	0	16669	1087	38	1	682	1	TSSK6	19	19626094	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	274684	19626094	39502889	1666	51937											
ZNF714	148206	broad.mit.edu	37	chr19	21300002	21300002	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttaccaatgtgaagaatgtGacaaagtgtttaagcggttc	10	6	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:21300002G>A	uc002npo.3	+	6	895	c.535G>A	c.(535-537)GAC>AAC	p.D179N	ZNF714_uc002npl.2_Missense_Mutation_p.D24N|ZNF714_uc010ecp.1_Missense_Mutation_p.D130N|ZNF714_uc002npn.2_RNA	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	179	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGAAGAATGTGACAAAGTGTT	0.343													A	21300002	G	A	21300002	3	1	74	1	0	0	0	0	1	0	0	0	18115	1290	45	4	542	4	ZNF714	19	21300002	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1673908	21300002	37828981	1667	51938											
ZNF714	148206	broad.mit.edu	37	chr19	21300018	21300018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgacaaagtgtttaagcGgttctcaacccttactagac	8	9	1	2	rs61740552		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:21300018G>A	uc002npo.3	+	6	911	c.551G>A	c.(550-552)CGG>CAG	p.R184Q	ZNF714_uc002npl.2_Missense_Mutation_p.R29Q|ZNF714_uc010ecp.1_Missense_Mutation_p.R135Q|ZNF714_uc002npn.2_RNA	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	184	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTGTTTAAGCGGTTCTCAACC	0.368													A	21300018	G	A	21300018	3	1	74	1	0	0	0	0	1	0	0	0	18115	1116	39	1	558	1	ZNF714	19	21300018	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	16	21300018	37828965	1668	51939											
ZNF43	7594	broad.mit.edu	37	chr19	22002026	22002026	+	Splice_Site	DEL	A	A	-													cataaatgtcaatggtccctAaaaaaaacaacacatacaca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383													-	22002026	A	-	22002026	8	5	74	1	0	1	0	1	0	0	1	0	17900	377	13	0		0	ZNF43	19	22002026	Splice_Site	DEL	A	TCGA-BR-8361-01A-11D-2340-08	702008	22002026	37126957	1669	51940											
ZNF208	7757	broad.mit.edu	37	chr19	22155306	22155306	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttagtaaggattgagaactTactaaaggctttgccacatt	8	6	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:22155306T>C	uc002nqp.2	-	5	2379	c.2230A>G	c.(2230-2232)AAG>GAG	p.K744E	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTGAGAACTTACTAAAGGCT	0.393													C	22155306	T	C	22155306	3	2	74	1	0	0	0	0	1	0	0	0	17763	1763	61	3	1316	3	ZNF208	19	22155306	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	153280	22155306	36973677	1670	51941											
ZNF257	113835	broad.mit.edu	37	chr19	22271811	22271811	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agctcttactacccttactcAgcataagataattcatactg	4	11	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:22271811A>T	uc010ecx.2	+	4	1428	c.1259A>T	c.(1258-1260)CAG>CTG	p.Q420L	ZNF257_uc010ecy.2_Missense_Mutation_p.Q388L	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	420	C2H2-type 9; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACCCTTACTCAGCATAAGATA	0.368													T	22271811	A	T	22271811	3	4	74	1	0	0	0	0	1	0	0	0	17797	188	7	5	1273	5	ZNF257	19	22271811	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	116505	22271811	36857172	1671	51942											
GPATCH1	55094	broad.mit.edu	37	chr19	33600752	33600752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccagaacgctcagagcaGcagagcccagctctcccctg	11	17	2	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:33600752G>A	uc002nug.1	+	11	1729	c.1415G>A	c.(1414-1416)AGC>AAC	p.S472N		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	472						catalytic step 2 spliceosome	nucleic acid binding			skin(1)	1	Esophageal squamous(110;0.137)					GCTCAGAGCAGCAGAGCCCAG	0.552													A	33600752	G	A	33600752	3	1	74	1	0	0	0	0	1	0	0	0	6590	971	34	2	1457	2	GPATCH1	19	33600752	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	11328941	33600752	25528231	1672	51943											
DMKN	93099	broad.mit.edu	37	chr19	36004029	36004029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcgaatgacatcttctgCctgtctgccaatctcgtgcc	9	13	4	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:36004029C>T	uc002nzm.3	-	1	532	c.349G>A	c.(349-351)GCA>ACA	p.A117T	DMKN_uc002nzj.2_5'Flank|DMKN_uc002nzk.3_5'Flank|DMKN_uc002nzl.3_5'Flank|DMKN_uc002nzo.3_Missense_Mutation_p.A117T|DMKN_uc002nzn.3_Missense_Mutation_p.A117T|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc010xsw.1_5'Flank|DMKN_uc002nzx.3_5'Flank|DMKN_uc002nzy.3_5'Flank|DMKN_uc002nzz.2_5'Flank|DMKN_uc002oac.3_Missense_Mutation_p.A117T|DMKN_uc010eeb.2_Missense_Mutation_p.A117T|DMKN_uc002oaa.3_Missense_Mutation_p.A117T|DMKN_uc002oab.3_Missense_Mutation_p.A117T	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine isoform 2 precursor	117	Gly-rich.					extracellular region				large_intestine(1)|ovary(1)|skin(1)	3	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACATCTTCTGCCTGTCTGCCA	0.617													T	36004029	C	T	36004029	3	4	74	1	0	0	0	0	1	0	0	0	4582	739	26	2	1462	2	DMKN	19	36004029	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2403277	36004029	23124954	1673	51944											
TMEM147	10430	broad.mit.edu	37	chr19	36038038	36038038	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtccattacatcgtcgcGtctgctcaggtctggatgat	11	10	3	1	rs141810425		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:36038038G>A	uc002oaj.1	+	6	544	c.447G>A	c.(445-447)GCG>GCA	p.A149A	uc010eec.1_5'Flank|uc002oag.2_5'Flank|TMEM147_uc002oai.1_Silent_p.A100A|TMEM147_uc002oak.1_Silent_p.A104A	NM_032635	NP_116024	Q9BVK8	TM147_HUMAN	transmembrane protein 147	149	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACATCGTCGCGTCTGCTCAGG	0.552													A	36038038	G	A	36038038	2	1	74	1	0	0	0	0	0	0	0	1	16058	1132	40	1		1	TMEM147	19	36038038	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	34009	36038038	23090945	1674	51945											
RBM42	79171	broad.mit.edu	37	chr19	36128234	36128234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccccagcgactacgtgcGcgccatgcgtgagatgaatg	14	12	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:36128234G>A	uc002oan.2	+	9	1386	c.1310G>A	c.(1309-1311)CGC>CAC	p.R437H	RBM42_uc010eef.2_Missense_Mutation_p.R383H|RBM42_uc002oao.2_Missense_Mutation_p.R415H|RBM42_uc002oap.2_Missense_Mutation_p.R407H|RBM42_uc002oaq.2_Missense_Mutation_p.R408H|RBM42_uc010eeg.2_Intron	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	437	Necessary for interaction with HNRNPK (By similarity).|RRM.					cytoplasm|nucleus	nucleotide binding|RNA binding				0	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GACTACGTGCGCGCCATGCGT	0.632													A	36128234	G	A	36128234	3	1	74	1	0	0	0	0	1	0	0	0	13136	1087	38	1	1344	1	RBM42	19	36128234	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	90196	36128234	23000749	1675	51946											
ZBTB32	27033	broad.mit.edu	37	chr19	36206345	36206345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgatgccgcccagatatGgcattcccttctaccatagc	8	14	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:36206345G>A	uc002oay.2	+	2	1027	c.817G>A	c.(817-819)GGC>AGC	p.G273S	ZBTB32_uc002oaz.2_RNA|MLL4_uc010eei.2_5'Flank	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	273					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			ovary(1)|skin(1)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCCAGATATGGCATTCCCTT	0.657													A	36206345	G	A	36206345	3	1	74	1	0	0	0	0	1	0	0	0	17532	1348	47	4	819	4	ZBTB32	19	36206345	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	78111	36206345	22922638	1676	51947											
ARHGAP33	115703	broad.mit.edu	37	chr19	36276226	36276226	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggcacccgtgccccaccGcagccttcaggtgagaggct	15	15	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:36276226G>A	uc002obr.1	+	18	1942	c.1857G>A	c.(1855-1857)CCG>CCA	p.P619P	ARHGAP33_uc002obs.1_Silent_p.P619P|ARHGAP33_uc002obt.1_Silent_p.P483P|ARHGAP33_uc010eel.2_Silent_p.P207P|ARHGAP33_uc002obv.1_Silent_p.P207P	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	619					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						GTGCCCCACCGCAGCCTTCAG	0.687													A	36276226	G	A	36276226	2	1	74	1	0	0	0	0	0	0	0	1	882	1074	38	1		1	ARHGAP33	19	36276226	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	69881	36276226	22852757	1677	51948											
ARHGAP33	115703	broad.mit.edu	37	chr19	36279117	36279117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggcaccctggggaccccGtacccctcatagggtgccgg	14	16	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:36279117G>A	uc002obs.1	+	21	3252	c.3167G>A	c.(3166-3168)CGT>CAT	p.R1056H	ARHGAP33_uc002obt.1_Missense_Mutation_p.R1053H|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Missense_Mutation_p.R805H	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	1217					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						TGGGGACCCCGTACCCCTCAT	0.706													A	36279117	G	A	36279117	3	1	74	1	0	0	0	0	1	0	0	0	882	1145	40	1	3732	1	ARHGAP33	19	36279117	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2891	36279117	22849866	1678	51949											
NPHS1	4868	broad.mit.edu	37	chr19	36342240	36342240	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgacctggcactcatactcCgcgtcatcgctgaggtcaca	9	16	3	1	rs145630223		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:36342240C>T	uc002oby.2	-	3	321	c.321G>A	c.(319-321)GCG>GCA	p.A107A		NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	107	Extracellular (Potential).|Ig-like C2-type 1.		A -> T (in NPHS1).|A -> V (in NPHS1).		cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACTCATACTCCGCGTCATCGC	0.642													T	36342240	C	T	36342240	2	4	74	1	0	0	0	0	0	0	0	1	10582	639	23	1		1	NPHS1	19	36342240	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	63123	36342240	22786743	1679	51950											
LRFN3	79414	broad.mit.edu	37	chr19	36431520	36431521	+	Frame_Shift_Ins	INS	-	-	C													gccaacagcaccagctgtgaINSccccccgcgggacggggatc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:36431520_36431521insC	uc002oco.2	+	2	1645_1646	c.1193_1194insC	c.(1192-1194)GACfs	p.D398fs		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	398	Extracellular (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACCAGCTGTGACCCCCCGCGGG	0.678													C	36431521	-	C	36431520	7	5	74	1	0	1	1	0	0	0	0	0	8939	275	10	0	1195	0	LRFN3	19	36431520	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	89280	36431520	22697463	1680	51951	216	2									
LRFN3	79414	broad.mit.edu	37	chr19	36431521	36431522	+	Frame_Shift_Ins	INS	-	-	C													ccaacagcaccagctgtgacINScccccgcgggacggggatcc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:36431520_36431521A>AC	uc002oco.3	+	1	1645_1646	c.1193_1194A>AC	c.(1192-1194)gacfs	p.D398fs		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA.	398					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACCAGCTGTGACCCCCCGCGGG	0.678													C	36431522	-	C	36431521	7	5	74	1	0	1	1	0	0	0	0	0	8939	506	18	0	1196	0	LRFN3	19	36431521	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1	36431521	22697462	1681	51952	216	2									
ZFP14	57677	broad.mit.edu	37	chr19	36853090	36853090	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcaggatccaggaattcCcattcttcctgtgagaagtc	10	10	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:36853090C>T	uc002odx.1	-	2	153	c.60G>A	c.(58-60)TGG>TGA	p.W20*	ZFP14_uc010xtd.1_Nonsense_Mutation_p.W20*|ZFP14_uc010eex.1_Nonsense_Mutation_p.W20*	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	zinc finger protein 14-like	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.162)					CCAGGAATTCCCATTCTTCCT	0.378													T	36853090	C	T	36853090	4	4	74	1	0	0	0	0	0	1	0	0	17636	624	22	4	1553	4	ZFP14	19	36853090	Nonsense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	421569	36853090	22275893	1682	51953											
ZNF790	388536	broad.mit.edu	37	chr19	37310974	37310974	+	Frame_Shift_Del	DEL	T	T	-													tttctctctcaaaaatgccaTtttttggtaataacttcttg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:37310973_37310973AT>A	uc021utk.1	-	4	702	c.273_273AT>T	c.(271-273)aatfs	p.N91fs	LOC284408_uc021utj.1_Intron|LOC284408_uc002oev.2_Intron|ZNF790_uc002oew.3_Frame_Shift_Del_p.N91fs|ZNF790_uc021utl.1_Frame_Shift_Del_p.N91fs|ZNF790_uc021utm.1_Frame_Shift_Del_p.N91fs	NM_001242802	NP_001229731	Q6PG37	ZN790_HUMAN	Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA.	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CAAAAATGCCATTTTTTGGTA	0.358													-	37310974	T	-	37310974	7	5	74	1	0	1	0	1	0	0	0	0	18159	1493	52	0	1642	0	ZNF790	19	37310974	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	457884	37310974	21818009	1683	51954											
ZNF569	148266	broad.mit.edu	37	chr19	37903985	37903985	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaaggctttaccacattcAttacaatcataaggtttctc	6	9	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:37903985A>G	uc002ogi.2	-	6	2133	c.1575T>C	c.(1573-1575)AAT>AAC	p.N525N	ZNF569_uc002ogh.2_Silent_p.N366N|ZNF569_uc002ogj.2_Silent_p.N549N	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	525	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACCACATTCATTACAATCAT	0.373													G	37903985	A	G	37903985	2	3	74	1	0	0	0	0	0	0	0	1	17997	214	8	3		3	ZNF569	19	37903985	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	593011	37903985	21224998	1684	51955											
RYR1	6261	broad.mit.edu	37	chr19	39019237	39019237	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtcacacctctcccctgcAggcaccgggcatgtaacatg	9	16	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:39019237A>G	uc002oit.2	+	75	11068	c.10938_splice	c.e75-2	p.T3646_splice	RYR1_uc002oiu.2_Splice_Site_p.T3641_splice|RYR1_uc002oiv.1_Splice_Site_p.T561_splice|RYR1_uc010xuf.1_Splice_Site_p.T566_splice	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1						muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCTCCCCTGCAGGCACCGGGC	0.597													G	39019237	A	G	39019237	5	3	74	1	0	0	0	0	0	0	1	0	13768	202	7	3	11234	3	RYR1	19	39019237	Splice_Site	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1115252	39019237	20109746	1685	51956											
ACTN4	81	broad.mit.edu	37	chr19	39214943	39214943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcaacccctacaccacCgtcaccccgcaaatcatcaa	5	19	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:39214943C>T	uc002oja.1	+	15	1898	c.1839C>T	c.(1837-1839)ACC>ACT	p.T613T	ACTN4_uc002ojb.1_5'Flank	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	613	Spectrin 3.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTACACCACCGTCACCCCGC	0.667													T	39214943	C	T	39214943	2	4	74	1	0	0	0	0	0	0	0	1	207	639	23	1		1	ACTN4	19	39214943	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	195706	39214943	19914040	1686	51957											
DYRK1B	9149	broad.mit.edu	37	chr19	40316498	40316498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagccgggtgctggggggCaggcgctgggtgaggtgggg	26	7	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:40316498C>T	uc002omj.2	-	11	2027	c.1747G>A	c.(1747-1749)GCC>ACC	p.A583T	DYRK1B_uc002omi.2_Missense_Mutation_p.A555T|DYRK1B_uc002omk.2_Missense_Mutation_p.A543T	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	583					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TGCTGGGGGGCAGGCGCTGGG	0.697													T	40316498	C	T	40316498	3	4	74	1	0	0	0	0	1	0	0	0	4855	710	25	2	146	2	DYRK1B	19	40316498	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1101555	40316498	18812485	1687	51958											
FCGBP	8857	broad.mit.edu	37	chr19	40376631	40376631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccggctctccctcactcacGacagaaagtttcattcctcc	5	17	4	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:40376631G>A	uc002omp.3	-	24	11799	c.11791C>T	c.(11791-11793)CCC>TCC	p.P3931S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	3931	Cys-rich.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCTCACTCACGACAGAAAGTT	0.622													A	40376631	G	A	40376631	3	1	74	1	0	0	0	0	1	0	0	0	5778	1072	37	1	4478	1	FCGBP	19	40376631	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	60133	40376631	18752352	1688	51959											
MAP3K10	4294	broad.mit.edu	37	chr19	40718828	40718828	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgggggcaagaagaagggaCgaacgtgggggcccagctcc	18	10	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:40718828C>T	uc002ona.2	+	7	1957	c.1669C>T	c.(1669-1671)CGA>TGA	p.R557*	MAP3K10_uc002onb.2_Translation_Start_Site	NM_002446	NP_002437	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase	557					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			ovary(2)|lung(2)|skin(1)|pancreas(1)	6						GAAGAAGGGACGAACGTGGGG	0.562													T	40718828	C	T	40718828	4	4	74	1	0	0	0	0	0	1	0	0	9244	528	19	1	1695	1	MAP3K10	19	40718828	Nonsense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	342197	40718828	18410155	1689	51960											
EGLN2	112398	broad.mit.edu	37	chr19	41306665	41306665	+	Frame_Shift_Del	DEL	C	C	-													ggcctcggcagggagtgggaCccccagagccacagccacct							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:41306665delC	uc010ehd.2	+	8	1189	c.188delC	c.(187-189)ACCfs	p.T63fs	EGLN2_uc002opg.3_Frame_Shift_Del_p.T63fs|EGLN2_uc002oph.2_Frame_Shift_Del_p.T63fs|EGLN2_uc002opi.2_Frame_Shift_Del_p.T63fs	NM_080732	NP_542770	Q96KS0	EGLN2_HUMAN	EGL nine (C.elegans) homolog 2	63					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GGGAGTGGGACCCCCAGAGCC	0.672													-	41306665	C	-	41306665	7	5	74	1	0	1	0	1	0	0	0	0	4969	507	18	0	190	0	EGLN2	19	41306665	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	587837	41306665	17822318	1690	51961											
CYP2B6	1555	broad.mit.edu	37	chr19	41522670	41522671	+	Frame_Shift_Ins	INS	-	-	C													agaagacatcgatctgacacINScccaggagtgtggtgtgggc					rs147410578		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:41522669_41522670A>AC	uc002opr.1	+	8	1420_1421	c.1413_1414A>AC	c.(1411-1416)acacccfs	p.T471fs	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Frame_Shift_Ins_p.T271fs	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	471					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TCGATCTGACACCCCAGGAGTG	0.589													C	41522671	-	C	41522670	7	5	74	1	0	1	1	0	0	0	0	0	4164	507	18	0	1448	0	CYP2B6	19	41522670	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	216005	41522670	17606313	1691	51962											
ARHGEF1	9138	broad.mit.edu	37	chr19	42399469	42399469	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggaggcgtggggatgcccTctcgggaccggaatatcggg	19	9	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:42399469T>C	uc002orx.2	+	12	1034	c.925T>C	c.(925-927)TCT>CCT	p.S309P	ARHGEF1_uc002orw.1_Missense_Mutation_p.S309P|ARHGEF1_uc002ory.2_Missense_Mutation_p.S276P|ARHGEF1_uc002orz.2_Missense_Mutation_p.S147P|ARHGEF1_uc002osa.2_Missense_Mutation_p.S324P|ARHGEF1_uc002osb.2_Missense_Mutation_p.S291P|ARHGEF1_uc002osc.2_Missense_Mutation_p.S3P|ARHGEF1_uc002osd.2_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	309					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GGGGATGCCCTCTCGGGACCG	0.602													C	42399469	T	C	42399469	3	2	74	1	0	0	0	0	1	0	0	0	893	1551	54	3	1016	3	ARHGEF1	19	42399469	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	876799	42399469	16729514	1692	51963											
POU2F2	5452	broad.mit.edu	37	chr19	42600366	42600366	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcgggtgcgagaggtgCgggtcgggcagcgtagggcg	24	8	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:42600366C>T	uc002osp.2	-	8	598	c.531G>A	c.(529-531)CCG>CCA	p.P177P	POU2F2_uc002osn.2_Intron|POU2F2_uc002oso.2_5'UTR|POU2F2_uc002osq.2_Intron|POU2F2_uc002osr.1_Silent_p.P177P	NM_002698	NP_002689	P09086	PO2F2_HUMAN	POU domain, class 2, transcription factor 2	177					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2		Prostate(69;0.059)				GCGAGAGGTGCGGGTCGGGCA	0.687													T	42600366	C	T	42600366	2	4	74	1	0	0	0	0	0	0	0	1	12272	783	27	1		1	POU2F2	19	42600366	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	200897	42600366	16528617	1693	51964											
DEDD2	162989	broad.mit.edu	37	chr19	42713928	42713928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctggggcccctctccgCcgccgtctggcaccaccact	12	20	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:42713928C>T	uc002osu.1	-	4	581	c.513G>A	c.(511-513)CGG>CGA	p.R171R	DEDD2_uc002osv.1_RNA|DEDD2_uc002osw.1_Silent_p.R166R|DEDD2_uc002osx.1_Missense_Mutation_p.G55D|DEDD2_uc002osy.1_Silent_p.R171R|DEDD2_uc010eid.2_RNA	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN	death effector domain-containing  DNA binding	171	Bipartite nuclear localization signal (Potential).				activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity				0		Prostate(69;0.0704)				CCCCTCTCCGCCGCCGTCTGG	0.662													T	42713928	C	T	42713928	2	4	74	1	0	0	0	0	0	0	0	1	4385	726	26	2		2	DEDD2	19	42713928	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	113562	42713928	16415055	1694	51965											
ERF	2077	broad.mit.edu	37	chr19	42753368	42753368	+	Frame_Shift_Del	DEL	C	C	-													tgaaggagaagtgggagcctCcccctgagccgctgggcccc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:42753368delC	uc002ote.3	-	4	1054	c.896delG	c.(895-897)GGAfs	p.G299fs	ERF_uc002otd.3_Frame_Shift_Del_p.G30fs	NM_006494	NP_006485	P50548	ERF_HUMAN	Ets2 repressor factor	299					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4		Prostate(69;0.00682)				GTGGGAGCCTCCCCCTGAGCC	0.677													-	42753368	C	-	42753368	7	5	74	1	0	1	0	1	0	0	0	0	5221	855	30	0	754	0	ERF	19	42753368	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	39440	42753368	16375615	1695	51966											
CIC	23152	broad.mit.edu	37	chr19	42796288	42796288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacccagcggcctggtgccGcccctgagcccagccacact	10	20	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:42796288G>A	uc002otf.1	+	12	2977	c.2937G>A	c.(2935-2937)CCG>CCA	p.P979P		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	979	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				GCCTGGTGCCGCCCCTGAGCC	0.647			T	DUX4	soft tissue sarcoma								A	42796288	G	A	42796288	2	1	74	1	0	0	0	0	0	0	0	1	3424	1074	38	1		1	CIC	19	42796288	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	42920	42796288	16332695	1696	51967											
CEACAM8	1088	broad.mit.edu	37	chr19	43093693	43093693	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atagggtcctacgtcattccTtgtgacactgagtagagtga	11	8	1	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:43093693T>G	uc002oud.2	-	3	721	c.619A>C	c.(619-621)AGG>CGG	p.R207R	uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion	207	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				ovary(1)	1		Prostate(69;0.00899)				ACGTCATTCCTTGTGACACTG	0.512													G	43093693	T	G	43093693	2	3	74	1	0	0	0	0	0	0	0	1	3198	1608	56	5		5	CEACAM8	19	43093693	Silent	SNP	T	TCGA-BR-8361-01A-11D-2340-08	297405	43093693	16035290	1697	51968											
PSG2	5670	broad.mit.edu	37	chr19	43575989	43575989	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgattgctgaaacttcccaTtaattgtccaagaatactgt	6	9	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:43575989T>C	uc002ovr.2	-	4	920	c.827A>G	c.(826-828)AAT>AGT	p.N276S	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.N276S|PSG2_uc010eiq.1_Missense_Mutation_p.N276S|PSG2_uc002ovs.3_Missense_Mutation_p.N276S|PSG2_uc002ovt.3_Missense_Mutation_p.N276S	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	276	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)				AAACTTCCCATTAATTGTCCA	0.443													C	43575989	T	C	43575989	3	2	74	1	0	0	0	0	1	0	0	0	12655	1493	52	3	188	3	PSG2	19	43575989	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	482296	43575989	15552994	1698	51969											
ZNF230	7773	broad.mit.edu	37	chr19	44515185	44515185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatcagataattcacacaGgacagaaaccgtacaattgt	7	9	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:44515185G>A	uc002oyb.1	+	5	1245	c.994G>A	c.(994-996)GGA>AGA	p.G332R		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				AATTCACACAGGACAGAAACC	0.423													A	44515185	G	A	44515185	3	1	74	1	0	0	0	0	1	0	0	0	17781	1001	35	4	1008	4	ZNF230	19	44515185	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	939196	44515185	14613798	1699	51970											
ZNF230	7773	broad.mit.edu	37	chr19	44515438	44515438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcataagaaactccactgccGgaaaaaacccttcaaatgtg	6	11	2	1	rs149461366		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:44515438G>A	uc002oyb.1	+	5	1498	c.1247G>A	c.(1246-1248)CGG>CAG	p.R416Q		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				CTCCACTGCCGGAAAAAACCC	0.433													A	44515438	G	A	44515438	3	1	74	1	0	0	0	0	1	0	0	0	17781	1116	39	1	1261	1	ZNF230	19	44515438	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	253	44515438	14613545	1700	51971											
ZNF235	9310	broad.mit.edu	37	chr19	44792637	44792637	+	Frame_Shift_Del	DEL	T	T	-													cattcatgacaccaatagcgTtttttcccagtacgaacact							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:44792636_44792636GT>G	uc002oza.4	-	4	1055	c.952_952AC>C	c.(952-954)cgcfs	p.R318fs	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Frame_Shift_Del_p.R314fs	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CACCAATAGCGTTTTTTCCCA	0.448													-	44792637	T	-	44792637	7	5	74	1	0	1	0	1	0	0	0	0	17785	1722	60	0	1269	0	ZNF235	19	44792637	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	277199	44792637	14336346	1701	51972											
CEACAM20	125931	broad.mit.edu	37	chr19	45028150	45028150	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccatccttggacagctgcAtgcgctcatggaacacaacg	10	13	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:45028150A>G	uc010ejn.1	-	3	357	c.341T>C	c.(340-342)ATG>ACG	p.M114T	CEACAM20_uc010ejo.1_Missense_Mutation_p.M114T|CEACAM20_uc010ejp.1_Missense_Mutation_p.M114T|CEACAM20_uc010ejq.1_Missense_Mutation_p.M114T	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion	114	Ig-like C2-type 1.|Extracellular (Potential).					integral to membrane				large_intestine(2)	2		Prostate(69;0.0352)				GGACAGCTGCATGCGCTCATG	0.527													G	45028150	A	G	45028150	3	3	74	1	0	0	0	0	1	0	0	0	3191	217	8	3	1490	3	CEACAM20	19	45028150	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	235513	45028150	14100833	1702	51973											
PPP5C	5536	broad.mit.edu	37	chr19	46887108	46887108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaacatattcgagctcaaCggtttaccctcggagaccaa	7	13	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:46887108C>T	uc002pem.2	+	6	831	c.771C>T	c.(769-771)AAC>AAT	p.N257N	PPP5C_uc010xya.1_Silent_p.N124N|PPP5C_uc002pen.2_Silent_p.N235N|PPP5C_uc010xyb.1_Silent_p.N115N	NM_006247	NP_006238	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	257	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			lung(1)|pancreas(1)	2		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TCGAGCTCAACGGTTTACCCT	0.562													T	46887108	C	T	46887108	2	4	74	1	0	0	0	0	0	0	0	1	12406	535	19	1		1	PPP5C	19	46887108	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1858958	46887108	12241875	1703	51974											
PRKD2	25865	broad.mit.edu	37	chr19	47207633	47207633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggacggcgaggcaggagttCggtggtgctacggctctgtc	19	9	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:47207633C>T	uc002pfh.2	-	6	1024	c.682G>A	c.(682-684)GAA>AAA	p.E228K	PRKD2_uc002pfg.2_Missense_Mutation_p.E71K|PRKD2_uc002pfi.2_Missense_Mutation_p.E228K|PRKD2_uc002pfj.2_Missense_Mutation_p.E228K|PRKD2_uc010xye.1_Missense_Mutation_p.E228K|PRKD2_uc002pfk.2_Missense_Mutation_p.E71K	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	228					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGCAGGAGTTCGGTGGTGCTA	0.622											OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	47207633	C	T	47207633	3	4	74	1	0	0	0	0	1	0	0	0	12519	893	31	1	2010	1	PRKD2	19	47207633	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	320525	47207633	11921350	1704	51975											
SAE1	10055	broad.mit.edu	37	chr19	47712448	47712450	+	In_Frame_Del	DEL	CTT	CTT	-													cgggaccctcctcacaacaaCttcttcttcttcgatggcat							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:47712447_47712449ACTT>A	uc002pgc.3	+	8	1088_1090	c.980_982ACTT>A	c.(979-984)aacttc>aAtc	p.F331del	SAE1_uc002pgd.3_3'UTR|SAE1_uc010ekx.3_In_Frame_Del_p.L259del|SAE1_uc010ekw.3_Non-coding_Transcript|SAE1_uc010xyk.2_In_Frame_Del_p.F157del|SAE1_uc002pge.3_In_Frame_Del_p.F267del	NM_005500	NP_005491	Q9UBE0	SAE1_HUMAN	Homo sapiens SUMO1 activating enzyme subunit 1 (SAE1), transcript variant 1, mRNA.	331					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		CCTCACAACAACTTCTTCTTCTT	0.488													-	47712450	CTT	-	47712448	7	5	74	1	0	1	0	1	0	0	0	0	13805	565	20	0	1015	0	SAE1	19	47712448	In_Frame_Del	DEL	CTT	TCGA-BR-8361-01A-11D-2340-08	504815	47712448	11416535	1705	51976											
GLTSCR1	29998	broad.mit.edu	37	chr19	48185372	48185372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggcctcggccctcaggCccccgacagccaggcttccc	11	20	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:48185372C>T	uc002phh.3	+	7	2440	c.2246C>T	c.(2245-2247)GCC>GTC	p.A749V	GLTSCR1_uc002phi.3_Missense_Mutation_p.A507V	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	749							protein binding			pancreas(3)	3		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GGCCCTCAGGCCCCCGACAGC	0.741													T	48185372	C	T	48185372	3	4	74	1	0	0	0	0	1	0	0	0	6474	739	26	2	2264	2	GLTSCR1	19	48185372	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	472924	48185372	10943611	1706	51977											
CABP5	56344	broad.mit.edu	37	chr19	48537535	48537536	+	Frame_Shift_Ins	INS	-	-	G													acaacctcagagatctcccgINSgggggtgagccgctccccca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:48537534_48537535C>CG	uc002phu.2	-	4	565_566	c.433_434G>CG	c.(433-435)cggfs	p.R145fs		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	Homo sapiens calcium binding protein 5 (CABP5), mRNA.	145	EF-hand 4.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		AGAGATCTCCCGGGGGGTGAGC	0.594													G	48537536	-	G	48537535	7	5	74	1	0	1	1	0	0	0	0	0	2534	1115	39	0	96	0	CABP5	19	48537535	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	352163	48537535	10591448	1707	51978											
BAX	581	broad.mit.edu	37	chr19	49458971	49458972	+	Frame_Shift_Ins	INS	-	-	G													aggatcgagcagggcgaatgINSgggggggaggcacccgagct					rs141306106	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:49458970_49458971T>TG	uc002plk.3	+	2	182_183	c.113_114T>TG	c.(112-114)atgfs	p.M38fs	BAX_uc002plf.1_Frame_Shift_Ins_p.M38fs|BAX_uc002plg.1_Frame_Shift_Ins_p.M1fs|BAX_uc002plh.1_Intron|BAX_uc010xzx.2_Non-coding_Transcript|BAX_uc002plj.3_Frame_Shift_Ins_p.M38fs|BAX_uc002pll.3_Intron|BAX_uc002plm.3_Intron	NM_138761	NP_620116	Q07812	BAX_HUMAN	Homo sapiens BCL2-associated X protein (BAX), transcript variant alpha, mRNA.	38					B cell apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|cleavage of lamin|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	p.E41fs*19(1)|p.R37*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		GCAGGGCGAATGGGGGGGGAGG	0.594													G	49458972	-	G	49458971	7	5	74	1	0	1	1	0	0	0	0	0	1328	1348	47	0	124	0	BAX	19	49458971	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	921436	49458971	9670012	1708	51979											
ALDH16A1	126133	broad.mit.edu	37	chr19	49969002	49969002	+	Frame_Shift_Del	DEL	C	C	-													caccctactccagcccagcaCccccctatgggctcttcgtt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:49969001_49969001AC>A	uc002pnt.3	+	12	1691	c.1575_1575AC>A	c.(1573-1575)gcafs	p.A525fs	ALDH16A1_uc010yar.2_Frame_Shift_Del_p.A474fs|ALDH16A1_uc010yas.2_Frame_Shift_Del_p.A360fs|ALDH16A1_uc010yat.2_Frame_Shift_Del_p.A362fs	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA.	525							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCAGCCCAGCACCCCCCTATG	0.642													-	49969002	C	-	49969002	7	5	74	1	0	1	0	1	0	0	0	0	488	507	18	0	1626	0	ALDH16A1	19	49969002	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	510031	49969002	9159981	1709	51980											
NUP62	23636	broad.mit.edu	37	chr19	50411973	50411973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttctccattctcgatcagCgtgcggtcccaggcgttgac	10	13	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:50411973C>T	uc002pqx.2	-	2	1196	c.1092G>A	c.(1090-1092)ACG>ACA	p.T364T	IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Silent_p.T364T|NUP62_uc002pqz.2_Silent_p.T364T|NUP62_uc002pra.2_Silent_p.T364T|NUP62_uc002prb.2_Silent_p.T364T|NUP62_uc002prc.2_Silent_p.T288T	NM_153719	NP_714941	P37198	NUP62_HUMAN	nucleoporin 62kDa	364	Potential.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding				0		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCTCGATCAGCGTGCGGTCCC	0.602													T	50411973	C	T	50411973	2	4	74	1	0	0	0	0	0	0	0	1	10768	755	27	1		1	NUP62	19	50411973	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	442971	50411973	8717010	1710	51981											
ATF5	22809	broad.mit.edu	37	chr19	50434211	50434211	+	Frame_Shift_Del	DEL	C	C	-													gaaactccccccggcccctgCccccctggctccctatgagg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:50434211delC	uc010enq.1	+	3	671	c.104delC	c.(103-105)GCCfs	p.A35fs	IL4I1_uc002pqv.1_5'Flank|IL4I1_uc010eno.1_5'Flank|IL4I1_uc002pqw.1_5'Flank|IL4I1_uc002pqu.1_5'Flank|NUP62_uc002pqx.2_5'Flank|NUP62_uc002pqy.2_5'Flank|NUP62_uc002pqz.2_5'Flank|NUP62_uc002pra.2_5'Flank|NUP62_uc002prb.2_5'Flank|NUP62_uc002prc.2_5'Flank|ATF5_uc002prd.2_Frame_Shift_Del_p.A35fs	NM_012068	NP_036200	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	35					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			skin(2)	2		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCGGCCCCTGCCCCCCTGGCT	0.692													-	50434211	C	-	50434211	7	5	74	1	0	1	0	1	0	0	0	0	1083	739	26	0	106	0	ATF5	19	50434211	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	22238	50434211	8694772	1711	51982											
ZNF473	25888	broad.mit.edu	37	chr19	50542498	50542498	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctggaacagggggacacGttctgggacacagcgttgga	18	8	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:50542498G>A	uc002prn.2	+	3	327	c.90G>A	c.(88-90)ACG>ACA	p.T30T	ZNF473_uc002prm.2_Silent_p.T30T|ZNF473_uc010ybo.1_Silent_p.T18T	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	30	KRAB.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGGGGGACACGTTCTGGGACA	0.572													A	50542498	G	A	50542498	2	1	74	1	0	0	0	0	0	0	0	1	17928	1132	40	1		1	ZNF473	19	50542498	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	108287	50542498	8586485	1712	51983											
MYH14	79784	broad.mit.edu	37	chr19	50812898	50812898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtctctcctccccacagaCgcggccccctcaccttcacc	6	22	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:50812898C>T	uc002prr.1	+	41	5886	c.5839C>T	c.(5839-5841)CGC>TGC	p.R1947C	MYH14_uc010enu.1_Missense_Mutation_p.R1988C|MYH14_uc002prq.1_Missense_Mutation_p.R1955C|MYH14_uc010ycb.1_Missense_Mutation_p.R298C|MYH14_uc002prs.1_Missense_Mutation_p.R298C	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	1947	Potential.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCCCCACAGACGCGGCCCCCT	0.507													T	50812898	C	T	50812898	3	4	74	1	0	0	0	0	1	0	0	0	10033	550	19	1	6128	1	MYH14	19	50812898	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	270400	50812898	8316085	1713	51984											
NAPSA	9476	broad.mit.edu	37	chr19	50862306	50862306	+	Frame_Shift_Del	DEL	C	C	-													ggccgtgaggttaaaccagaCccccccaagaaggaaggaga							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:50862305_50862305AC>A	uc002prx.3	-	7	1051	c.998_998GT>T	c.(997-999)gtcfs	p.V333fs	NR1H2_uc002prv.4_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	Homo sapiens napsin A aspartic peptidase (NAPSA), mRNA.	333					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTTAAACCAGACCCCCCCAAG	0.527													-	50862306	C	-	50862306	7	5	74	1	0	1	0	1	0	0	0	0	10166	507	18	0	273	0	NAPSA	19	50862306	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	49408	50862306	8266677	1714	51985											
PPP2R1A	5518	broad.mit.edu	37	chr19	52714705	52714705	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcggcctcttctccgtctgcTacccccgagtgtccagtgct	10	17	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:52714705T>A	uc002pyp.2	+	4	622	c.463T>A	c.(463-465)TAC>AAC	p.Y155N	PPP2R1A_uc010ydk.1_Missense_Mutation_p.Y100N|PPP2R1A_uc010epm.1_Missense_Mutation_p.Y195N|PPP2R1A_uc002pyq.2_5'UTR	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	155	PP2A subunit B binding.|SV40 small T antigen binding.|HEAT 4.|Polyoma small and medium T antigens Binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CTCCGTCTGCTACCCCCGAGT	0.622			Mis		clear cell ovarian carcinoma								A	52714705	T	A	52714705	3	1	74	1	0	0	0	0	1	0	0	0	12382	1522	53	5	477	5	PPP2R1A	19	52714705	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	1852399	52714705	6414278	1715	51986											
BIRC8	112401	broad.mit.edu	37	chr19	53792958	53792958	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgaaatcaataaccgcgcTgcacatgggacatctgtcaa	8	11	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:53792958T>C	uc002qbk.2	-	1	1918	c.670A>G	c.(670-672)AGC>GGC	p.S224G		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat-containing 8	224	RING-type.				apoptosis		zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(134;0.00304)		ATAACCGCGCTGCACATGGGA	0.398													C	53792958	T	C	53792958	3	2	74	1	0	0	0	0	1	0	0	0	1440	1580	55	3	44	3	BIRC8	19	53792958	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	1078253	53792958	5336025	1716	51987											
CACNG7	59284	broad.mit.edu	37	chr19	54444823	54444823	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtattttcattatcgctAcgggtggtcttttgccttcg	10	9	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:54444823A>G	uc002qcr.1	+	4	539	c.524A>G	c.(523-525)TAC>TGC	p.Y175C	CACNG7_uc010era.1_Missense_Mutation_p.Y175C	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	175					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CATTATCGCTACGGGTGGTCT	0.537													G	54444823	A	G	54444823	3	3	74	1	0	0	0	0	1	0	0	0	2562	391	14	3	538	3	CACNG7	19	54444823	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	651865	54444823	4684160	1717	51988											
LILRB1	10859	broad.mit.edu	37	chr19	55143520	55143520	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaaggagaagatgaacacCcacaatgcctgaactcccag	10	11	0	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:55143520C>A	uc002qgj.2	+	6	833	c.493C>A	c.(493-495)CCA>ACA	p.P165T	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.P165T|LILRB1_uc002qgk.2_Missense_Mutation_p.P165T|LILRB1_uc002qgm.2_Missense_Mutation_p.P165T|LILRB1_uc010erq.2_Missense_Mutation_p.P165T|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	165	Ig-like C2-type 2.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		AGATGAACACCCACAATGCCT	0.592										HNSCC(37;0.09)			A	55143520	C	A	55143520	3	1	74	1	0	0	0	0	1	0	0	0	8790	623	22	5	507	5	LILRB1	19	55143520	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	698697	55143520	3985463	1718	51989											
NLRP2	55655	broad.mit.edu	37	chr19	55495082	55495082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcactgcgtctgaatcagaCgccgaggttgagaggtgaga	15	8	3	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:55495082C>T	uc002qij.2	+	6	2102	c.2016C>T	c.(2014-2016)GAC>GAT	p.D672D	NLRP2_uc010yfp.1_Silent_p.D649D|NLRP2_uc010esn.2_Silent_p.D648D|NLRP2_uc010eso.2_Silent_p.D669D|NLRP2_uc010esp.2_Silent_p.D650D	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	672					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTGAATCAGACGCCGAGGTTG	0.507													T	55495082	C	T	55495082	2	4	74	1	0	0	0	0	0	0	0	1	10477	535	19	1		1	NLRP2	19	55495082	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	351562	55495082	3633901	1719	51990											
PPP1R12C	54776	broad.mit.edu	37	chr19	55614860	55614860	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgggcctctggcatggcGcccccattcagccagcacct	11	18	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:55614860G>A	uc002qix.2	-	4	664	c.648C>T	c.(646-648)GGC>GGT	p.G216G	PPP1R12C_uc010yfs.1_Silent_p.G142G|PPP1R12C_uc002qiy.2_Silent_p.G216G	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	216						cytoplasm				ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CTGGCATGGCGCCCCCATTCA	0.622													A	55614860	G	A	55614860	2	1	74	1	0	0	0	0	0	0	0	1	12356	1074	38	1		1	PPP1R12C	19	55614860	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	119778	55614860	3514123	1720	51991											
SUV420H2	84787	broad.mit.edu	37	chr19	55858419	55858419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagccccagccccgagtgCggccccggaagcgccgacgc	13	20	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:55858419C>T	uc002qkj.3	+	9	1239	c.991C>T	c.(991-993)CGG>TGG	p.R331W	SUV420H2_uc002qkl.2_Missense_Mutation_p.R216W	NM_032701	NP_116090	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding				0	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GCCCCGAGTGCGGCCCCGGAA	0.771													T	55858419	C	T	55858419	3	4	74	1	0	0	0	0	1	0	0	0	15412	759	27	1	1021	1	SUV420H2	19	55858419	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	243559	55858419	3270564	1721	51992											
ZNF524	147807	broad.mit.edu	37	chr19	56114133	56114133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctccggcgccatgcgaagCgcaagcacccggaggccatg	14	16	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:56114133C>T	uc002qlk.1	+	2	738	c.655C>T	c.(655-657)CGC>TGC	p.R219C	FIZ1_uc002qlj.3_5'Flank	NM_153219	NP_694951	Q96C55	ZN524_HUMAN	zinc finger protein 524	219	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCATGCGAAGCGCAAGCACCC	0.706													T	56114133	C	T	56114133	3	4	74	1	0	0	0	0	1	0	0	0	17963	768	27	1	657	1	ZNF524	19	56114133	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	255714	56114133	3014850	1722	51993											
NLRP9	338321	broad.mit.edu	37	chr19	56244545	56244545	+	Frame_Shift_Del	DEL	A	A	-													cagaattctctctggctgggAaaaaatgtcttcgatcttct							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:56244544_56244544GA>G	uc002qly.3	-	1	681	c.653_653TC>C	c.(652-654)tccfs	p.S218fs		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	218	NACHT.					cytoplasm	ATP binding	p.S218F(2)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTCTGGCTGGGAAAAAATGTC	0.478													-	56244545	A	-	56244545	7	5	74	1	0	1	0	1	0	0	0	0	10484	246	9	0	2355	0	NLRP9	19	56244545	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	130412	56244545	2884438	1723	51994											
NLRP8	126205	broad.mit.edu	37	chr19	56467067	56467067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatagcgagtcccagaggaaGcaaaagctatctctctcaca	9	11	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:56467067G>A	uc002qmh.2	+	3	1714	c.1643G>A	c.(1642-1644)AGC>AAC	p.S548N	NLRP8_uc010etg.2_Missense_Mutation_p.S548N	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	548						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCCAGAGGAAGCAAAAGCTAT	0.473													A	56467067	G	A	56467067	3	1	74	1	0	0	0	0	1	0	0	0	10483	971	34	2	1653	2	NLRP8	19	56467067	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	222522	56467067	2661916	1724	51995											
ZNF71	58491	broad.mit.edu	37	chr19	57132704	57132704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcggaagacaagctctccGttgttggggaggccacgggg	16	9	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:57132704G>A	uc002qnm.3	+	3	287	c.49G>A	c.(49-51)GTT>ATT	p.V17I		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	17						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CAAGCTCTCCGTTGTTGGGGA	0.542													A	57132704	G	A	57132704	3	1	74	1	0	0	0	0	1	0	0	0	18111	1145	40	1	51	1	ZNF71	19	57132704	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	665637	57132704	1996279	1725	51996											
PEG3	5178	broad.mit.edu	37	chr19	57326026	57326026	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctaagcctggaatgatagCttcctcagccatctggctct	10	12	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:57326026C>A	uc002qnu.2	-	7	4135	c.3784G>T	c.(3784-3786)GCT>TCT	p.A1262S	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.A1233S|PEG3_uc002qnv.2_Missense_Mutation_p.A1262S|PEG3_uc002qnw.2_Missense_Mutation_p.A1138S|PEG3_uc002qnx.2_Missense_Mutation_p.A1136S|PEG3_uc010etr.2_Missense_Mutation_p.A1262S	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1262					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGAATGATAGCTTCCTCAGCC	0.468													A	57326026	C	A	57326026	3	1	74	1	0	0	0	0	1	0	0	0	11720	797	28	5	986	5	PEG3	19	57326026	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	193322	57326026	1802957	1726	51997											
AURKC	6795	broad.mit.edu	37	chr19	57743478	57743478	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggaatgtgtacctggctcGgctcaaggaaagccatttca	12	9	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:57743478G>T	uc002qoe.2	+	3	371	c.182G>T	c.(181-183)CGG>CTG	p.R61L	AURKC_uc002qoc.2_Missense_Mutation_p.R42L|AURKC_uc002qod.2_Missense_Mutation_p.R27L|AURKC_uc010etv.2_Missense_Mutation_p.R58L	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	61	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TACCTGGCTCGGCTCAAGGAA	0.537													T	57743478	G	T	57743478	3	4	74	1	0	0	0	0	1	0	0	0	1224	1116	39	5	197	5	AURKC	19	57743478	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	417452	57743478	1385505	1727	51998											
ZNF460	10794	broad.mit.edu	37	chr19	57802746	57802746	+	Frame_Shift_Del	DEL	T	T	-													gttcacagtggagagaagccTtttgtgtgcaatgaatgtgg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:57802746delT	uc002qog.2	+	3	1159	c.837delT	c.(835-837)CCTfs	p.P279fs	ZNF460_uc010ygv.1_Frame_Shift_Del_p.P238fs	NM_006635	NP_006626	Q14592	ZN460_HUMAN	zinc finger protein 460	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAGAGAAGCCTTTTGTGTGCA	0.493													-	57802746	T	-	57802746	7	5	74	1	0	1	0	1	0	0	0	0	17921	1596	56	0	847	0	ZNF460	19	57802746	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	59268	57802746	1326237	1728	51999											
C19orf18	147685	broad.mit.edu	37	chr19	58485726	58485726	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatggagtccatctgcataCggcaagcataaatgaagttg	12	7	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr19:58485726C>T	uc002qqv.2	-	1	179	c.75G>A	c.(73-75)CCG>CCA	p.P25P		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	hypothetical protein LOC147685 precursor	25						integral to membrane				ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		CATCTGCATACGGCAAGCATA	0.393													T	58485726	C	T	58485726	2	4	74	1	0	0	0	0	0	0	0	1	1910	523	19	1		1	C19orf18	19	58485726	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	682980	58485726	643257	1729	52000											
TGM6	343641	broad.mit.edu	37	chr20	2411645	2411645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgatggtggagggcagcGgccttctccaggaacagctc	15	12	1	1	rs150652148	by1000genomes	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:2411645G>A	uc002wfy.1	+	12	2000	c.1939G>A	c.(1939-1941)GGC>AGC	p.G647S	TGM6_uc010gal.1_Intron	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	647					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	GGAGGGCAGCGGCCTTCTCCA	0.597													A	2411645	G	A	2411645	3	1	74	1	0	0	0	0	1	0	0	0	15831	1116	39	1	1985	1	TGM6	20	2411645	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08		2411645	60613875	1730	52001											
VPS16	64601	broad.mit.edu	37	chr20	2847077	2847077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctcttgctcaaaccacagcGatgtggctcaggctgcagat	10	12	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:2847077G>A	uc002whe.2	+	24	2425	c.2377G>A	c.(2377-2379)GAT>AAT	p.D793N	VPS16_uc002whh.2_Intron|PTPRA_uc002whj.2_Intron|VPS16_uc002whf.2_Missense_Mutation_p.D649N|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.D479N|VPS16_uc002whi.2_Missense_Mutation_p.D277N	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 isoform 1	793					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				ovary(2)|pancreas(1)|skin(1)	4						AAACCACAGCGATGTGGCTCA	0.622													A	2847077	G	A	2847077	3	1	74	1	0	0	0	0	1	0	0	0	17190	1072	37	1	2471	1	VPS16	20	2847077	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	435432	2847077	60178443	1731	52002											
ProSAPiP1	9762	broad.mit.edu	37	chr20	3145148	3145150	+	In_Frame_Del	DEL	CTT	CTT	-													aggcgggagggggtccaggcCttcttctcctcgccatgctg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:3145148_3145150delCTT	uc002wia.1	-	3	3370_3372	c.1972_1974delAAG	c.(1972-1974)AAGdel	p.K658del	ProSAPiP1_uc002wib.1_In_Frame_Del_p.K612del	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	658						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						GGGTCCAGGCCTTCTTCTCCTCG	0.64													-	3145150	CTT	-	3145148	7	5	74	1	0	1	0	1	0	0	0	0	12870	680	24	0	51	0	ProSAPiP1	20	3145148	In_Frame_Del	DEL	CTT	TCGA-BR-8361-01A-11D-2340-08	298071	3145148	59880372	1732	52003											
SLC4A11	83959	broad.mit.edu	37	chr20	3209805	3209805	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgaagaagagcatggacaGcaggaagccgaggcccatgg	16	8	0	3	rs143520364		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:3209805G>A	uc002wig.2	-	15	2050	c.2002C>T	c.(2002-2004)CTG>TTG	p.L668L	SLC4A11_uc010zqe.1_Silent_p.L695L|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Silent_p.L652L	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	668	Helical; (Potential).|Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						AGCATGGACAGCAGGAAGCCG	0.647													A	3209805	G	A	3209805	2	1	74	1	0	0	0	0	0	0	0	1	14652	962	34	2		2	SLC4A11	20	3209805	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	64657	3209805	59815715	1733	52004											
C20orf27	54976	broad.mit.edu	37	chr20	3739228	3739228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgggtgaccatgaccacCgagtcatgcagcttctcatc	9	14	2	2	rs138016250	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:3739228C>T	uc002wji.1	-	3	346	c.117G>A	c.(115-117)TCG>TCA	p.S39S	C20orf27_uc002wjf.1_Silent_p.S64S|C20orf27_uc002wjh.1_Silent_p.S64S	NM_001039140	NP_001034229	Q9GZN8	CT027_HUMAN	hypothetical protein LOC54976	39											0						CCATGACCACCGAGTCATGCA	0.587													T	3739228	C	T	3739228	2	4	74	1	0	0	0	0	0	0	0	1	2107	639	23	1		1	C20orf27	20	3739228	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	529423	3739228	59286292	1734	52005											
CDC25B	994	broad.mit.edu	37	chr20	3782935	3782935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcactttccagaaagcccGcgtcctccgctcaaaatcac	5	17	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:3782935G>A	uc002wjn.2	+	11	1884	c.1106G>A	c.(1105-1107)CGC>CAC	p.R369H	CDC25B_uc010zqk.1_Missense_Mutation_p.R305H|CDC25B_uc010zql.1_Missense_Mutation_p.R291H|CDC25B_uc010zqm.1_Missense_Mutation_p.R278H|CDC25B_uc002wjl.2_Missense_Mutation_p.R257H|CDC25B_uc002wjm.2_Missense_Mutation_p.R257H|CDC25B_uc002wjo.2_Missense_Mutation_p.R355H|CDC25B_uc002wjp.2_Missense_Mutation_p.R328H|CDC25B_uc002wjq.2_Missense_Mutation_p.R169H|CDC25B_uc010gbc.2_5'Flank	NM_021873	NP_068659	P30305	MPIP2_HUMAN	cell division cycle 25B isoform 1	369					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			lung(3)|ovary(2)	5						CAGAAAGCCCGCGTCCTCCGC	0.587													A	3782935	G	A	3782935	3	1	74	1	0	0	0	0	1	0	0	0	3063	1087	38	1	1148	1	CDC25B	20	3782935	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	43707	3782935	59242585	1735	52006											
ADRA1D	146	broad.mit.edu	37	chr20	4202438	4202438	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtggctttcgacggctggcgAccggagcctgcatctcgggc	16	13	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:4202438A>T	uc002wkr.2	-	2	1506	c.1451T>A	c.(1450-1452)GTC>GAC	p.V484D		NM_000678	NP_000669	P25100	ADA1D_HUMAN	alpha-1D-adrenergic receptor	484	Cytoplasmic (By similarity).				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity				0					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	ACGGCTGGCGACCGGAGCCTG	0.751													T	4202438	A	T	4202438	3	4	74	1	0	0	0	0	1	0	0	0	336	275	10	5	271	5	ADRA1D	20	4202438	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	419503	4202438	58823082	1736	52007											
CHGB	1114	broad.mit.edu	37	chr20	5903119	5903119	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggagccccaggggaggAggacatccaaggcccaacaa	15	12	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:5903119A>G	uc002wmg.2	+	4	635	c.329A>G	c.(328-330)GAG>GGG	p.E110G	CHGB_uc010zqz.1_Intron	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	110						extracellular region	hormone activity			breast(3)|skin(2)|ovary(1)	6						CCAGGGGAGGAGGACATCCAA	0.592													G	5903119	A	G	5903119	3	3	74	1	0	0	0	0	1	0	0	0	3339	304	11	3	343	3	CHGB	20	5903119	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1700681	5903119	57122401	1737	52008											
TMX4	56255	broad.mit.edu	37	chr20	7967944	7967944	+	Frame_Shift_Del	DEL	A	A	-													ttatctcttaccagacccatAaaaaggccaaaaaccaaggt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:7967943_7967943TA>T	uc002wmx.1	-	5	740	c.607_607TA>A	c.(607-609)atgfs	p.M203fs		NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 4 (TMX4), mRNA.	203					cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						ACCAGACCCATAAAAAGGCCA	0.353													-	7967944	A	-	7967944	7	5	74	1	0	1	0	1	0	0	0	0	16266	359	13	0	455	0	TMX4	20	7967944	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	2064825	7967944	55057576	1738	52009											
PLCB1	23236	broad.mit.edu	37	chr20	8639248	8639248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattttatcaaccttaagcaGcgagatcctcggcttaatga	8	9	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:8639248G>A	uc002wnb.2	+	9	762	c.759G>A	c.(757-759)CAG>CAA	p.Q253Q	PLCB1_uc010zrb.1_Silent_p.Q152Q|PLCB1_uc002wna.2_Silent_p.Q253Q|PLCB1_uc002wnc.1_Silent_p.Q152Q	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	253					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						ACCTTAAGCAGCGAGATCCTC	0.368													A	8639248	G	A	8639248	2	1	74	1	0	0	0	0	0	0	0	1	12027	962	34	2		2	PLCB1	20	8639248	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	671304	8639248	54386272	1739	52010											
ESF1	51575	broad.mit.edu	37	chr20	13756530	13756530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaggttacctcatcagcacGaggagcatctttatctaatt	7	9	4	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:13756530G>A	uc002woj.2	-	3	1132	c.1024C>T	c.(1024-1026)CGT>TGT	p.R342C	ESF1_uc002wok.1_Missense_Mutation_p.R342C	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1						TCATCAGCACGAGGAGCATCT	0.368													A	13756530	G	A	13756530	3	1	74	1	0	0	0	0	1	0	0	0	5251	1058	37	1	1579	1	ESF1	20	13756530	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	5117282	13756530	49268990	1740	52011											
SEL1L2	80343	broad.mit.edu	37	chr20	13830886	13830886	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgtagtttccagtttcatgAcggcaaagagcacaggtatg	12	8	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:13830886A>G	uc010gcf.2	-	19	1980	c.1898T>C	c.(1897-1899)GTC>GCC	p.V633A	SEL1L2_uc002woq.3_Missense_Mutation_p.V494A|SEL1L2_uc010zrl.1_Missense_Mutation_p.V520A|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	633	Extracellular (Potential).					integral to membrane	binding			ovary(2)	2						CAGTTTCATGACGGCAAAGAG	0.458													G	13830886	A	G	13830886	3	3	74	1	0	0	0	0	1	0	0	0	14011	275	10	3	176	3	SEL1L2	20	13830886	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	74356	13830886	49194634	1741	52012											
C20orf12	55184	broad.mit.edu	37	chr20	18396042	18396043	+	Frame_Shift_Ins	INS	-	-	C													catctgtagcaggaaatggtINScccccctttctgagtgggcg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:18396042_18396043insC	uc010zsa.1	-	11	1271_1272	c.1062_1063insG	c.(1060-1065)GGGACCfs	p.G354fs	C20orf12_uc010zrz.1_5'Flank|C20orf12_uc002wqp.3_Intron|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Frame_Shift_Ins_p.G221fs|C20orf12_uc002wqq.3_Frame_Shift_Ins_p.G335fs|C20orf12_uc002wqu.1_RNA|C20orf12_uc010gct.1_RNA	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	hypothetical protein LOC55184	162_163						intracellular	zinc ion binding			ovary(1)	1		Myeloproliferative disorder(85;0.0122)				CAGGAAATGGTCCCCCCTTTCT	0.5													C	18396043	-	C	18396042	7	5	74	1	0	1	1	0	0	0	0	0	2085	1667	58	0	1296	0	C20orf12	20	18396042	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	4565156	18396042	44629478	1742	52013											
RALGAPA2	57186	broad.mit.edu	37	chr20	20616123	20616123	+	Frame_Shift_Del	DEL	T	T	-													tttgtgttgcagttagatacTttttttccaaaaagaaggtt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:20616122_20616122CT>C	uc002wrz.3	-	8	1088	c.945_945AG>G	c.(943-945)aagfs	p.K315fs	RALGAPA2_uc010zsg.2_5'UTR	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	315					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CAGTTAGATACTTTTTTTCCA	0.343													-	20616123	T	-	20616123	7	5	74	1	0	1	0	1	0	0	0	0	13014	1609	56	0	4801	0	RALGAPA2	20	20616123	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	2220081	20616123	42409397	1743	52014											
RALGAPA2	57186	broad.mit.edu	37	chr20	20620462	20620462	+	Frame_Shift_Del	DEL	A	A	-													tacttcaacagtatttgaagAaaaaagcaggtttggtcctc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:20620461_20620461GA>G	uc002wrz.3	-	6	777	c.634_634TC>C	c.(634-636)cttfs	p.L212fs	RALGAPA2_uc010zsg.2_5'UTR	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	212					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AGTATTTGAAGAAAAAAGCAG	0.378													-	20620462	A	-	20620462	7	5	74	1	0	1	0	1	0	0	0	0	13014	243	9	0	5120	0	RALGAPA2	20	20620462	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	4339	20620462	42405058	1744	52015											
THBD	7056	broad.mit.edu	37	chr20	23028480	23028480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctccttggaaggggccgcGcacttgtactccatcttggc	11	14	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:23028480G>A	uc002wss.2	-	1	1822	c.1662C>T	c.(1660-1662)TGC>TGT	p.C554C	THBD_uc002wst.1_RNA	NM_000361	NP_000352	P07204	TRBM_HUMAN	thrombomodulin precursor	554	Cytoplasmic (Potential).				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity				0	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	AAGGGGCCGCGCACTTGTACT	0.682													A	23028480	G	A	23028480	2	1	74	1	0	0	0	0	0	0	0	1	15849	1079	38	1		1	THBD	20	23028480	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2408018	23028480	39997040	1745	52016											
C20orf160	140706	broad.mit.edu	37	chr20	30602726	30602726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggctttgtatcccccatccGaaggctggtgttccccaagg	12	13	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:30602726G>A	uc002wxf.2	+	2	63	c.50G>A	c.(49-51)CGA>CAA	p.R17Q		NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	hypothetical protein LOC140706	17										central_nervous_system(3)|ovary(1)	4						TCCCCCATCCGAAGGCTGGTG	0.522													A	30602726	G	A	30602726	3	1	74	1	0	0	0	0	1	0	0	0	2093	1058	37	1	56	1	C20orf160	20	30602726	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	7574246	30602726	32422794	1746	52017											
KIF3B	9371	broad.mit.edu	37	chr20	30919102	30919102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcagctttatccacagtctCgggggctggttccaaagtaa	10	11	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:30919102C>T	uc002wxq.2	+	9	2391	c.2224C>T	c.(2224-2226)CGG>TGG	p.R742W	KIF3B_uc010ztw.1_Missense_Mutation_p.R680W	NM_004798	NP_004789	O15066	KIF3B_HUMAN	kinesin family member 3B	742	Globular.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			central_nervous_system(3)|ovary(2)	5			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCCACAGTCTCGGGGGCTGGT	0.502													T	30919102	C	T	30919102	3	4	74	1	0	0	0	0	1	0	0	0	8301	875	31	1	2254	1	KIF3B	20	30919102	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	316376	30919102	32106418	1747	52018											
MAP1LC3A	84557	broad.mit.edu	37	chr20	33147545	33147545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgccggctgcaggcgccGcctgcagctgaaccccacgc	12	20	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:33147545G>A	uc002xaq.1	+	4	363	c.209G>A	c.(208-210)CGC>CAC	p.R70H	MAP1LC3A_uc002xap.1_Missense_Mutation_p.R74H	NM_032514	NP_115903	Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3	70					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding				0						TGCAGGCGCCGCCTGCAGCTG	0.627													A	33147545	G	A	33147545	3	1	74	1	0	0	0	0	1	0	0	0	9230	1087	38	1	279	1	MAP1LC3A	20	33147545	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2228443	33147545	29877975	1748	52019											
MYH7B	57644	broad.mit.edu	37	chr20	33567228	33567228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgcctgatgaacaggacGcctacgtggaggccgaggtc	17	10	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:33567228G>A	uc010gfa.1	+	3	248	c.127G>A	c.(127-129)GCC>ACC	p.A43T	MYH7B_uc002xbi.1_Missense_Mutation_p.A85T			A7E2Y1	MYH7B_HUMAN	RecName: Full=Myosin-7B; AltName: Full=Myosin heavy chain 7B, cardiac muscle beta isoform; AltName: Full=Myosin cardiac muscle beta chain; AltName: Full=Antigen MLAA-21; AltName: Full=Slow A MYH14;	43						membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGAACAGGACGCCTACGTGGA	0.602													A	33567228	G	A	33567228	3	1	74	1	0	0	0	0	1	0	0	0	10040	1087	38	1	267	1	MYH7B	20	33567228	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	419683	33567228	29458292	1749	52020											
MYH7B	57644	broad.mit.edu	37	chr20	33582020	33582020	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaactggtcatggatgaagcTctttttcaagatgaagccgc	11	8	3	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:33582020T>A	uc002xbi.1	+	25	2734	c.2642T>A	c.(2641-2643)CTC>CAC	p.L881H		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	839						membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGGATGAAGCTCTTTTTCAAG	0.632													A	33582020	T	A	33582020	3	1	74	1	0	0	0	0	1	0	0	0	10040	1551	54	5	2740	5	MYH7B	20	33582020	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	14792	33582020	29443500	1750	52021											
TRPC4AP	26133	broad.mit.edu	37	chr20	33632505	33632505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gattggggacttcatctagtCggatcatttcctacagaaga	10	8	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:33632505C>T	uc002xbk.2	-	7	702	c.668G>A	c.(667-669)CGA>CAA	p.R223Q	TRPC4AP_uc002xbl.2_Missense_Mutation_p.R223Q|TRPC4AP_uc010zur.1_Missense_Mutation_p.R184Q|TRPC4AP_uc002xbm.1_Missense_Mutation_p.R223Q	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	TRPC4-associated protein isoform a	223	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TTCATCTAGTCGGATCATTTC	0.438													T	33632505	C	T	33632505	3	4	74	1	0	0	0	0	1	0	0	0	16578	884	31	1	1777	1	TRPC4AP	20	33632505	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	50485	33632505	29393015	1751	52022											
ERGIC3	51614	broad.mit.edu	37	chr20	34136287	34136287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaacacctgtgaagatgtgCgggaggcatatcgccgtaga	14	8	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:34136287C>T	uc002xct.2	+	6	556	c.487C>T	c.(487-489)CGG>TGG	p.R163W	ERGIC3_uc002xcr.1_Missense_Mutation_p.R163W|ERGIC3_uc010zvg.1_Missense_Mutation_p.R163W|ERGIC3_uc002xcs.2_Missense_Mutation_p.R163W|ERGIC3_uc002xcu.2_Missense_Mutation_p.R163W|ERGIC3_uc002xcv.2_Missense_Mutation_p.R126W	NM_015966	NP_057050	Q9Y282	ERGI3_HUMAN	serologically defined breast cancer antigen 84	163	Lumenal (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			large_intestine(2)|ovary(1)	3	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TGAAGATGTGCGGGAGGCATA	0.552													T	34136287	C	T	34136287	3	4	74	1	0	0	0	0	1	0	0	0	5225	759	27	1	509	1	ERGIC3	20	34136287	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	503782	34136287	28889233	1752	52023											
CPNE1	8904	broad.mit.edu	37	chr20	34218842	34218842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagtcatagtcctgaaccaCgctgcccacactccacagtg	8	16	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:34218842C>T	uc002xdf.2	-	13	1339	c.976G>A	c.(976-978)GTG>ATG	p.V326M	CPNE1_uc002xdc.2_Translation_Start_Site|CPNE1_uc010zvj.1_Missense_Mutation_p.V331M|CPNE1_uc002xde.2_Missense_Mutation_p.V302M|CPNE1_uc002xdg.2_Missense_Mutation_p.V326M|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.V326M|CPNE1_uc002xdi.2_Missense_Mutation_p.V326M|CPNE1_uc002xdj.2_Missense_Mutation_p.V326M|CPNE1_uc002xdk.2_Missense_Mutation_p.V326M|CPNE1_uc002xdl.2_Missense_Mutation_p.V326M|CPNE1_uc002xdm.2_Missense_Mutation_p.V326M|CPNE1_uc010gfk.1_3'UTR	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	326	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCCTGAACCACGCTGCCCACA	0.562													T	34218842	C	T	34218842	3	4	74	1	0	0	0	0	1	0	0	0	3811	536	19	1	661	1	CPNE1	20	34218842	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	82555	34218842	28806678	1753	52024											
RBM12	10137	broad.mit.edu	37	chr20	34240845	34240845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccaaaccccgggggaccGcctaagctaccagggccatt	10	16	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:34240845G>A	uc002xdq.2	-	3	2632	c.2400C>T	c.(2398-2400)GGC>GGT	p.G800G	CPNE1_uc010zvj.1_Intron|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Silent_p.G800G|RBM12_uc002xds.2_Silent_p.G800G	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	800	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCGGGGGACCGCCTAAGCTAC	0.517													A	34240845	G	A	34240845	2	1	74	1	0	0	0	0	0	0	0	1	13113	1074	38	1		1	RBM12	20	34240845	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	22003	34240845	28784675	1754	52025											
KIAA0406	9675	broad.mit.edu	37	chr20	36627620	36627620	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaagcactgccaggggggcGtcccgtgtgagtcggtgaac	16	11	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:36627620G>A	uc002xhl.2	-	6	2972	c.2763C>T	c.(2761-2763)GAC>GAT	p.D921D	KIAA0406_uc002xhm.2_Silent_p.D921D	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	921							binding				0		Myeloproliferative disorder(115;0.00874)				CCAGGGGGGCGTCCCGTGTGA	0.587													A	36627620	G	A	36627620	2	1	74	1	0	0	0	0	0	0	0	1	8173	1136	40	1		1	KIAA0406	20	36627620	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2386775	36627620	26397900	1755	52026											
ACTR5	79913	broad.mit.edu	37	chr20	37383681	37383681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttccagcaagctcctggGcagcactctgacctctgagg	10	13	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:37383681G>A	uc002xjd.2	+	4	882	c.857G>A	c.(856-858)GGC>GAC	p.G286D		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog	286					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding				0		Myeloproliferative disorder(115;0.00878)				AAGCTCCTGGGCAGCACTCTG	0.517													A	37383681	G	A	37383681	3	1	74	1	0	0	0	0	1	0	0	0	215	1203	42	2	871	2	ACTR5	20	37383681	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	756061	37383681	25641839	1756	52027											
CHD6	84181	broad.mit.edu	37	chr20	40118601	40118601	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctcagaaatatttctgaaagGaatgtgatggactggatggt	12	4	2	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:40118601G>T	uc002xka.1	-	12	1675	c.1497C>A	c.(1495-1497)TTC>TTA	p.F499L	CHD6_uc002xkd.2_Missense_Mutation_p.F477L	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	499	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TTTCTGAAAGGAATGTGATGG	0.443													T	40118601	G	T	40118601	3	4	74	1	0	0	0	0	1	0	0	0	3329	1165	41	5	6754	5	CHD6	20	40118601	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2734920	40118601	22906919	1757	52028											
PTPRT	11122	broad.mit.edu	37	chr20	40739003	40739003	+	Frame_Shift_Del	DEL	G	G	-													ccactatgggcccagcttccGgggggttgaggaacttgacc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:40739002_40739002CG>C	uc002xkg.3	-	22	3409	c.3225_3225CG>G	c.(3223-3225)ccgfs	p.P1075fs	PTPRT_uc010ggj.3_Frame_Shift_Del_p.P1094fs|PTPRT_uc010ggi.3_Frame_Shift_Del_p.P278fs	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1075	Tyrosine-protein phosphatase 1.				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	p.H1075N(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCCCAGCTTCCGGGGGGTTGA	0.627													-	40739003	G	-	40739003	7	5	74	1	0	1	0	1	0	0	0	0	12812	1116	39	0	1137	0	PTPRT	20	40739003	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	620402	40739003	22286517	1758	52029											
PTPRT	11122	broad.mit.edu	37	chr20	40980850	40980850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtggtgggtttcattccGgagcttgaacactttccccc	12	11	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:40980850G>A	uc002xkg.2	-	10	1820	c.1636C>T	c.(1636-1638)CGG>TGG	p.R546W	PTPRT_uc010ggj.2_Missense_Mutation_p.R546W	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	546	Extracellular (Potential).|Fibronectin type-III 3.				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)				GTTTCATTCCGGAGCTTGAAC	0.562													A	40980850	G	A	40980850	3	1	74	1	0	0	0	0	1	0	0	0	12812	1115	39	1	2838	1	PTPRT	20	40980850	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	241847	40980850	22044670	1759	52030											
FITM2	128486	broad.mit.edu	37	chr20	42935750	42935750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcagatgtaccagatggCcgtgcccacaagcagggtgc	15	11	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:42935750C>T	uc002xlr.1	-	2	405	c.304G>A	c.(304-306)GCC>ACC	p.A102T		NM_001080472	NP_001073941	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	102	Helical; (Potential).				cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				skin(2)	2						TACCAGATGGCCGTGCCCACA	0.592													T	42935750	C	T	42935750	3	4	74	1	0	0	0	0	1	0	0	0	5899	739	26	2	488	2	FITM2	20	42935750	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1954900	42935750	20089770	1760	52031											
MATN4	8785	broad.mit.edu	37	chr20	43933214	43933214	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccaggtcgcggatggcGcgctccatgtcctcgcggcg	16	15	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:43933214G>A	uc002xnn.2	-	3	484	c.297C>T	c.(295-297)CGC>CGT	p.R99R	MATN4_uc002xno.2_Silent_p.R99R|MATN4_uc002xnp.2_Silent_p.R99R|MATN4_uc010zwr.1_Silent_p.R47R|MATN4_uc002xnr.1_Silent_p.R99R|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	99	VWFA 1.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				CGCGGATGGCGCGCTCCATGT	0.657													A	43933214	G	A	43933214	2	1	74	1	0	0	0	0	0	0	0	1	9336	1074	38	1		1	MATN4	20	43933214	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	997464	43933214	19092306	1761	52032											
ACOT8	10005	broad.mit.edu	37	chr20	44483882	44483882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaccagggcctggcccaCgatctgaccaccaaacagcc	9	18	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:44483882C>T	uc002xqa.1	-	2	259	c.178G>A	c.(178-180)GTG>ATG	p.V60M	ACOT8_uc010zxe.1_Missense_Mutation_p.V60M|ACOT8_uc002xqc.1_Intron|ACOT8_uc010zxf.1_Intron|ZSWIM3_uc002xqd.2_5'Flank|ZSWIM3_uc010zxg.1_5'Flank	NM_005469	NP_005460	O14734	ACOT8_HUMAN	peroxisomal acyl-CoA thioesterase 1 isoform a	60					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				GCCTGGCCCACGATCTGACCA	0.577													T	44483882	C	T	44483882	3	4	74	1	0	0	0	0	1	0	0	0	156	536	19	1	801	1	ACOT8	20	44483882	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	550668	44483882	18541638	1762	52033											
NCOA3	8202	broad.mit.edu	37	chr20	46276031	46276031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctccaaggaatgcacccacGagccaacatcatgagacccc	7	16	2	1	rs146235035		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:46276031G>A	uc002xtk.2	+	18	3672	c.3467G>A	c.(3466-3468)CGA>CAA	p.R1156Q	NCOA3_uc010ght.1_Missense_Mutation_p.R1151Q|NCOA3_uc002xtl.2_Missense_Mutation_p.R1156Q|NCOA3_uc002xtm.2_Missense_Mutation_p.R1156Q|NCOA3_uc002xtn.2_Missense_Mutation_p.R1156Q|NCOA3_uc010zyc.1_Missense_Mutation_p.R951Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	1156	Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						ATGCACCCACGAGCCAACATC	0.493													A	46276031	G	A	46276031	3	1	74	1	0	0	0	0	1	0	0	0	10230	1058	37	1	3559	1	NCOA3	20	46276031	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1792149	46276031	16749489	1763	52034											
ARFGEF2	10564	broad.mit.edu	37	chr20	47628620	47628620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacgtctctgagaggcctcGggttcgtttttccccacctt	9	13	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:47628620G>A	uc002xtx.3	+	28	4069	c.3917G>A	c.(3916-3918)CGG>CAG	p.R1306Q	ARFGEF2_uc010zyf.1_Missense_Mutation_p.R599Q	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	1306					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GAGAGGCCTCGGGTTCGTTTT	0.507													A	47628620	G	A	47628620	3	1	74	1	0	0	0	0	1	0	0	0	853	1130	39	1	4027	1	ARFGEF2	20	47628620	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1352589	47628620	15396900	1764	52035											
KCNB1	3745	broad.mit.edu	37	chr20	47991448	47991448	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggactggccgaactcatcgaGgctctgtagctcaggcagcg	14	12	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:47991448G>C	uc002xur.1	-	2	813	c.649C>G	c.(649-651)CTC>GTC	p.L217V	KCNB1_uc002xus.1_Missense_Mutation_p.L217V	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	217					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AACTCATCGAGGCTCTGTAGC	0.567													C	47991448	G	C	47991448	3	2	74	1	0	0	0	0	1	0	0	0	8012	1000	35	5	1931	5	KCNB1	20	47991448	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	362828	47991448	15034072	1765	52036											
TMEM189-UBE2V1	387522	broad.mit.edu	37	chr20	48744613	48744613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaggagggtgacccagCgtggcagcccaaagtacgtg	15	12	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:48744613C>T	uc002xvf.2	-	5	751	c.590G>A	c.(589-591)CGC>CAC	p.R197H	TMEM189_uc010zyq.1_RNA|TMEM189_uc002xvg.2_Missense_Mutation_p.R197H|TMEM189_uc010gif.2_Missense_Mutation_p.R194H|TMEM189_uc010zyp.1_Missense_Mutation_p.R122H	NM_199203	NP_954673	Q13404	UB2V1_HUMAN	TMEM189-UBE2V1 readthrough transcript	Error:Variant_position_missing_in_Q13404_after_alignment					cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein K63-linked ubiquitination|regulation of DNA repair|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|UBC13-UEV1A complex|ubiquitin ligase complex	acid-amino acid ligase activity|protein binding				0			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			GGTGACCCAGCGTGGCAGCCC	0.572													T	48744613	C	T	48744613	3	4	74	1	0	0	0	0	1	0	0	0	16109	768	27	1	538	1	TMEM189-UBE2V1	20	48744613	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	753165	48744613	14280907	1766	52037											
NFATC2	4773	broad.mit.edu	37	chr20	50092134	50092134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtgcggcttaaggatccGctcatcagctgtcccaatga	12	12	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:50092134G>A	uc002xwd.2	-	4	1616	c.1396C>T	c.(1396-1398)CGG>TGG	p.R466W	NFATC2_uc002xwc.2_Missense_Mutation_p.R466W|NFATC2_uc010zyv.1_Missense_Mutation_p.R247W|NFATC2_uc010zyw.1_Missense_Mutation_p.R247W|NFATC2_uc010zyx.1_Missense_Mutation_p.R446W|NFATC2_uc010zyy.1_Missense_Mutation_p.R247W|NFATC2_uc010zyz.1_Missense_Mutation_p.R247W|NFATC2_uc002xwe.2_Missense_Mutation_p.R446W	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	466	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					TTAAGGATCCGCTCATCAGCT	0.522													A	50092134	G	A	50092134	3	1	74	1	0	0	0	0	1	0	0	0	10362	1086	38	1	1457	1	NFATC2	20	50092134	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1347521	50092134	12933386	1767	52038											
ZFP64	55734	broad.mit.edu	37	chr20	50701174	50701174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagctgtcccgaggcaccGctttccggtgggaaggtgac	15	12	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:50701174G>A	uc002xwk.2	-	9	2209	c.1860C>T	c.(1858-1860)AGC>AGT	p.S620S	ZFP64_uc002xwj.2_Silent_p.S401S	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CCGAGGCACCGCTTTCCGGTG	0.597													A	50701174	G	A	50701174	2	1	74	1	0	0	0	0	0	0	0	1	17649	1078	38	1		1	ZFP64	20	50701174	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	609040	50701174	12324346	1768	52039											
ZFP64	55734	broad.mit.edu	37	chr20	50705172	50705172	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacagaactcacacttgtgCggtttgtctccttcaaacac	6	13	4	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:50705172C>T	uc002xwk.2	-	8	1336	c.987G>A	c.(985-987)CCG>CCA	p.P329P	ZFP64_uc002xwj.2_Silent_p.P110P	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CACACTTGTGCGGTTTGTCTC	0.478													T	50705172	C	T	50705172	2	4	74	1	0	0	0	0	0	0	0	1	17649	755	27	1		1	ZFP64	20	50705172	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3998	50705172	12320348	1769	52040											
ZNF217	7764	broad.mit.edu	37	chr20	52198731	52198731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagattttgtaaggagagGagatgctctcggccgcgtgc	15	8	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:52198731G>A	uc002xwq.3	-	1	906	c.635C>T	c.(634-636)TCC>TTC	p.S212F	ZNF217_uc010gij.1_Missense_Mutation_p.S204F	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	212					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GTAAGGAGAGGAGATGCTCTC	0.498													A	52198731	G	A	52198731	3	1	74	1	0	0	0	0	1	0	0	0	17769	1174	41	4	2527	4	ZNF217	20	52198731	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1493559	52198731	10826789	1770	52041											
PCK1	5105	broad.mit.edu	37	chr20	56136615	56136617	+	In_Frame_Del	DEL	GAG	GAG	-													tccacatctgtgacggctctGaggaggagaatgggcggctt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:56136614_56136616TGAG>T	uc002xyn.4	+	1	310_312	c.147_149TGAG>T	c.(145-150)tctgag>tcTg	p.E52del	PCK1_uc010zzm.2_5'UTR	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	52					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GTGACGGCTCTGAGGAGGAGAAT	0.591													-	56136617	GAG	-	56136615	7	5	74	1	0	1	0	1	0	0	0	0	11581	1291	45	0	150	0	PCK1	20	56136615	In_Frame_Del	DEL	GAG	TCGA-BR-8361-01A-11D-2340-08	3937884	56136615	6888905	1771	52042											
CDH4	1002	broad.mit.edu	37	chr20	60419875	60419875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgggaggagcacgcctcttAccacgtgagtgtccacaccc	11	16	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:60419875A>G	uc002ybn.1	+	5	742	c.728A>G	c.(727-729)TAC>TGC	p.Y243C	CDH4_uc002ybp.1_Missense_Mutation_p.Y169C	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	243	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CACGCCTCTTACCACGTGAGT	0.677													G	60419875	A	G	60419875	3	3	74	1	0	0	0	0	1	0	0	0	3112	391	14	3	746	3	CDH4	20	60419875	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	4283260	60419875	2605645	1772	52043											
GTPBP5	26164	broad.mit.edu	37	chr20	60773703	60773703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccaggtccccgtgggcaCgctggtgaaggagggaggca	17	12	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:60773703C>T	uc002yce.3	+	5	520	c.482C>T	c.(481-483)ACG>ATG	p.T161M	GTPBP5_uc011aab.1_Translation_Start_Site|GTPBP5_uc011aac.1_Translation_Start_Site|GTPBP5_uc011aad.1_Translation_Start_Site|GTPBP5_uc011aae.1_Translation_Start_Site|GTPBP5_uc011aaf.1_Intron|GTPBP5_uc011aag.1_Missense_Mutation_p.T161M	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	GTP binding protein 5	161	Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding				0	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			CCCGTGGGCACGCTGGTGAAG	0.612													T	60773703	C	T	60773703	3	4	74	1	0	0	0	0	1	0	0	0	6883	536	19	1	496	1	GTPBP5	20	60773703	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	353828	60773703	2251817	1773	52044											
TCFL5	10732	broad.mit.edu	37	chr20	61488942	61488942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacatttgtgtccaactgaCgcattctactccgattcctc	5	14	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:61488942C>T	uc002ydp.2	-	4	1136	c.1043G>A	c.(1042-1044)CGT>CAT	p.R348H	TCFL5_uc002ydo.2_Missense_Mutation_p.R121H|TCFL5_uc002ydq.2_Missense_Mutation_p.R347H	NM_006602	NP_006593	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 protein	348	R3 epitope (recognized by Chagas's antibodies).				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1	Breast(26;5.68e-08)					GTCCAACTGACGCATTCTACT	0.468													T	61488942	C	T	61488942	3	4	74	1	0	0	0	0	1	0	0	0	15696	536	19	1	471	1	TCFL5	20	61488942	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	715239	61488942	1536578	1774	52045											
DIDO1	11083	broad.mit.edu	37	chr20	61512859	61512859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgctcctcgatctgtttGttcagctcttctagcatctt	6	12	6	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:61512859G>A	uc002ydr.1	-	16	4713	c.4449C>T	c.(4447-4449)AAC>AAT	p.N1483N	DIDO1_uc002yds.1_Silent_p.N1483N	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1483					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CGATCTGTTTGTTCAGCTCTT	0.627													A	61512859	G	A	61512859	2	1	74	1	0	0	0	0	0	0	0	1	4522	1368	48	4		4	DIDO1	20	61512859	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	23917	61512859	1512661	1775	52046											
COL20A1	57642	broad.mit.edu	37	chr20	61939423	61939424	+	Frame_Shift_Ins	INS	-	-	G													tgcgccgcctccgctacaagINSggggggaacacgttcacagg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:61939422_61939423A>AG	uc011aau.2	+	6	855_856	c.755_756A>AG	c.(754-756)aagfs	p.K252fs	COL20A1_uc011aav.2_Frame_Shift_Ins_p.K73fs	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	252	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity	p.K252N(2)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTCCGCTACAAGGGGGGGAACA	0.649													G	61939424	-	G	61939423	7	5	74	1	0	1	1	0	0	0	0	0	3679	991	35	0	778	0	COL20A1	20	61939423	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	426564	61939423	1086097	1776	52047											
RTEL1	51750	broad.mit.edu	37	chr20	62292794	62292794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcaaggagagcttttcccGgatcgggccttgtcatcctg	13	12	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr20:62292794G>A	uc002yfu.1	+	3	589	c.246G>A	c.(244-246)CCG>CCA	p.P82P	RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Silent_p.P82P|RTEL1_uc011abd.1_Silent_p.P82P|RTEL1_uc002yfv.2_Silent_p.P82P|RTEL1_uc011abe.1_5'UTR|RTEL1_uc002yfw.2_RNA	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	82	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding				0	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			AGCTTTTCCCGGATCGGGCCT	0.647													A	62292794	G	A	62292794	2	1	74	1	0	0	0	0	0	0	0	1	13720	1103	39	1		1	RTEL1	20	62292794	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	353371	62292794	732726	1777	52048											
SAMSN1	64092	broad.mit.edu	37	chr21	15893518	15893518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaattattccgaaaacgatCgaaattcccaaaactgctgc	6	10	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr21:15893518C>T	uc002yju.1	-	2	164	c.82G>A	c.(82-84)GAT>AAT	p.D28N	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.D96N	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization	28					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			ovary(3)|pancreas(1)	4				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CGAAAACGATCGAAATTCCCA	0.289													T	15893518	C	T	15893518	3	4	74	1	0	0	0	0	1	0	0	0	13830	884	31	1	1067	1	SAMSN1	21	15893518	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08		15893518	32236377	1778	52049											
NCAM2	4685	broad.mit.edu	37	chr21	22370891	22370891	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtcctgaacatgagcctcCtcctctccttctacctgctg	6	17	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr21:22370891C>A	uc002yld.1	+	1	259	c.10C>A	c.(10-12)CTC>ATC	p.L4I	NCAM2_uc011acb.1_Missense_Mutation_p.L4I	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	4					neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CATGAGCCTCCTCCTCTCCTT	0.562													A	22370891	C	A	22370891	3	1	74	1	0	0	0	0	1	0	0	0	10203	681	24	5	12	5	NCAM2	21	22370891	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	6477373	22370891	25759004	1779	52050											
NCAM2	4685	broad.mit.edu	37	chr21	22804504	22804504	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtttccttcaacaaaccGgactcccatggaggtgtacc	9	12	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr21:22804504G>A	uc002yld.1	+	12	1806	c.1557G>A	c.(1555-1557)CCG>CCA	p.P519P	NCAM2_uc011acb.1_Silent_p.P377P	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	519	Fibronectin type-III 1.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TCAACAAACCGGACTCCCATG	0.458													A	22804504	G	A	22804504	2	1	74	1	0	0	0	0	0	0	0	1	10203	1103	39	1		1	NCAM2	21	22804504	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	433613	22804504	25325391	1780	52051											
ADAMTS5	11096	broad.mit.edu	37	chr21	28296395	28296395	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatttcttcaacaagcattGcttaaacgcagaaggccttt	6	10	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr21:28296395G>A	uc002ymg.2	-	8	3499	c.2770C>T	c.(2770-2772)CAA>TAA	p.Q924*		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	924	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						AACAAGCATTGCTTAAACGCA	0.483													A	28296395	G	A	28296395	4	1	74	1	0	0	0	0	0	1	0	0	269	1328	46	2	26	2	ADAMTS5	21	28296395	Nonsense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	5491891	28296395	19833500	1781	52052											
SON	6651	broad.mit.edu	37	chr21	34922887	34922887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccagtgccacagttgtcGcaggaattgccagggcttcc	11	13	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr21:34922887G>A	uc002yse.1	+	3	1399	c.1350G>A	c.(1348-1350)TCG>TCA	p.S450S	SON_uc002ysb.1_Silent_p.S450S|SON_uc002ysc.2_Silent_p.S450S|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	450					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						CACAGTTGTCGCAGGAATTGC	0.632													A	34922887	G	A	34922887	2	1	74	1	0	0	0	0	0	0	0	1	14926	1074	38	1		1	SON	21	34922887	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	6626492	34922887	13207008	1782	52053											
CBR1	873	broad.mit.edu	37	chr21	37444855	37444855	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactgaggaggagctggtggGgctcatgaacaagtttgtgg	17	6	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr21:37444855G>T	uc002yvb.1	+	3	638	c.509G>T	c.(508-510)GGG>GTG	p.G170V	uc011aea.1_Intron|SETD4_uc002yva.2_Intron|CBR1_uc010gmy.1_3'UTR	NM_001757	NP_001748	P16152	CBR1_HUMAN	carbonyl reductase 1	170					drug metabolic process|vitamin K metabolic process	cytoplasm	15-hydroxyprostaglandin dehydrogenase (NADP+) activity|carbonyl reductase (NADPH) activity|prostaglandin-E2 9-reductase activity|protein binding				0					Acetohexamide(DB00414)|Lubiprostone(DB01046)	GAGCTGGTGGGGCTCATGAAC	0.557													T	37444855	G	T	37444855	3	4	74	1	0	0	0	0	1	0	0	0	2708	1232	43	5	519	5	CBR1	21	37444855	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2521968	37444855	10685040	1783	52054											
RIPK4	54101	broad.mit.edu	37	chr21	43166800	43166800	+	Frame_Shift_Del	DEL	C	C	-													ggtgggcctaactcgcggatCcccctgccagcaccgctgca					rs149032082	by1000genomes	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr21:43166800delC	uc002yzn.1	-	5	853	c.805delG	c.(805-807)GATfs	p.D269fs		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	269						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						ACTCGCGGATCCCCCTGCCAG	0.687													-	43166800	C	-	43166800	7	5	74	1	0	1	0	1	0	0	0	0	13383	855	30	0	1565	0	RIPK4	21	43166800	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	5721945	43166800	4963095	1784	52055											
RRP1B	23076	broad.mit.edu	37	chr21	45107700	45107700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggaagaagagcccgagggCccacagggaaatgttggaat	15	8	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr21:45107700C>T	uc002zdk.2	+	13	1559	c.1445C>T	c.(1444-1446)GCC>GTC	p.A482V	RRP1B_uc002zdl.2_Missense_Mutation_p.A15V	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1 homolog B	482					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.178)		AGCCCGAGGGCCCACAGGGAA	0.612													T	45107700	C	T	45107700	3	4	74	1	0	0	0	0	1	0	0	0	13688	739	26	2	1495	2	RRP1B	21	45107700	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1940900	45107700	3022195	1785	52056											
TRPM2	7226	broad.mit.edu	37	chr21	45810858	45810858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aactggcagtggcatggaatCgcgtggacattgcccgcagt	14	10	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr21:45810858C>T	uc002zet.1	+	11	1603	c.1390C>T	c.(1390-1392)CGC>TGC	p.R464C	TRPM2_uc002zeu.1_Missense_Mutation_p.R464C|TRPM2_uc002zew.1_Missense_Mutation_p.R464C|TRPM2_uc010gpt.1_Missense_Mutation_p.R464C|TRPM2_uc002zex.1_Missense_Mutation_p.R250C|TRPM2_uc002zey.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	464	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GGCATGGAATCGCGTGGACAT	0.577													T	45810858	C	T	45810858	3	4	74	1	0	0	0	0	1	0	0	0	16583	884	31	1	1428	1	TRPM2	21	45810858	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	703158	45810858	2319037	1786	52057											
POFUT2	23275	broad.mit.edu	37	chr21	46703387	46703387	+	Frame_Shift_Del	DEL	C	C	-													tcccaggtcccttctttccaCccctctgcgtaactttgcag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr21:46703386_46703386AC>A	uc002zhc.3	-	2	464	c.439_439GT>T	c.(439-441)tggfs	p.W147fs	POFUT2_uc002zhb.3_Non-coding_Transcript|POFUT2_uc002zhd.3_Frame_Shift_Del_p.W147fs|POFUT2_uc011afp.1_Frame_Shift_Del_p.W147fs	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript variant 3, mRNA.	147					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		CCTTCTTTCCACCCCTCTGCG	0.537													-	46703387	C	-	46703387	7	5	74	1	0	1	0	1	0	0	0	0	12184	494	18	0	1018	0	POFUT2	21	46703387	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	892529	46703387	1426508	1787	52058											
COL6A2	1292	broad.mit.edu	37	chr21	47545966	47545966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatgacctcaacttgcgggCgctgtgcgaccgcgacgtca	13	14	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr21:47545966C>T	uc002zia.1	+	26	2319	c.2237C>T	c.(2236-2238)GCG>GTG	p.A746V	COL6A2_uc002zhy.1_Missense_Mutation_p.A746V|COL6A2_uc002zhz.1_Missense_Mutation_p.A746V|COL6A2_uc002zib.1_Missense_Mutation_p.A152V|COL6A2_uc002zic.1_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	746	VWFA 2.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AACTTGCGGGCGCTGTGCGAC	0.627													T	47545966	C	T	47545966	3	4	74	1	0	0	0	0	1	0	0	0	3700	768	27	1	2335	1	COL6A2	21	47545966	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	842579	47545966	583929	1788	52059											
COL6A2	1292	broad.mit.edu	37	chr21	47552362	47552362	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtggacatggacgtgctcAccacgctcagcctgggtgac	13	13	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr21:47552362A>G	uc002zia.1	+	28	3038	c.2956A>G	c.(2956-2958)ACC>GCC	p.T986A	COL6A2_uc002zib.1_Missense_Mutation_p.T392A|COL6A2_uc002zic.1_Silent_p.S60S|COL6A2_uc010gqe.1_RNA	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	986	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGACGTGCTCACCACGCTCAG	0.647													G	47552362	A	G	47552362	3	3	74	1	0	0	0	0	1	0	0	0	3700	159	6	3	3392	3	COL6A2	21	47552362	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	6396	47552362	577533	1789	52060											
PCNT	5116	broad.mit.edu	37	chr21	47860946	47860946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacggaaaatcacatctcGtcctttcaccaggttccgca	7	13	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr21:47860946G>A	uc002zji.3	+	43	9679	c.9572G>A	c.(9571-9573)CGT>CAT	p.R3191H	PCNT_uc002zjj.2_Missense_Mutation_p.R2994H	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	3191	Interaction with NEK2.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					ATCACATCTCGTCCTTTCACC	0.493													A	47860946	G	A	47860946	3	1	74	1	0	0	0	0	1	0	0	0	11590	1145	40	1	9742	1	PCNT	21	47860946	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	308584	47860946	268949	1790	52061											
PRMT2	3275	broad.mit.edu	37	chr21	48080764	48080764	+	Frame_Shift_Del	DEL	T	T	-													gatctttagcagttaaggagTttttttcaaagcccaagtat							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr21:48080764delT	uc002zjx.2	+	9	1164	c.850delT	c.(850-852)TTTfs	p.F284fs	PRMT2_uc002zjy.2_Frame_Shift_Del_p.F284fs|PRMT2_uc010gqm.2_Intron|PRMT2_uc011aga.1_Intron|PRMT2_uc011agb.1_Intron|PRMT2_uc011agc.1_Intron|PRMT2_uc002zjz.1_Frame_Shift_Del_p.F170fs	NM_206962	NP_996845	P55345	ANM2_HUMAN	HMT1 hnRNP methyltransferase-like 1	284					developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			ovary(1)	1	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		AGTTAAGGAGTTTTTTTCAAA	0.433													-	48080764	T	-	48080764	7	5	74	1	0	1	0	1	0	0	0	0	12537	1725	60	0	876	0	PRMT2	21	48080764	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	219818	48080764	49131	1791	52062											
CCT8L2	150160	broad.mit.edu	37	chr22	17071787	17071788	+	Frame_Shift_Ins	INS	-	-	T													tagttattcaatccaaggatINStttttttgtttccacaggag							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:17071786_17071787A>AT	uc002zlp.1	-	0	1914_1915	c.1654_1655T>AT	c.(1654-1656)atcfs	p.I552fs		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	552					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAATCCAAGGATTTTTTTTGTT	0.411													T	17071788	-	T	17071787	7	5	74	1	0	1	1	0	0	0	0	0	2961	1493	52	0	23	0	CCT8L2	22	17071787	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08		17071787	34232779	1792	52063											
CCT8L2	150160	broad.mit.edu	37	chr22	17072083	17072083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctaagcctgcattctctGccaaagttttaggaagatac	8	10	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:17072083G>A	uc002zlp.1	-	1	1618	c.1358C>T	c.(1357-1359)GCA>GTA	p.A453V		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	453					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGCATTCTCTGCCAAAGTTTT	0.493													A	17072083	G	A	17072083	3	1	74	1	0	0	0	0	1	0	0	0	2961	1319	46	2	319	2	CCT8L2	22	17072083	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	296	17072083	34232483	1793	52064											
ATP6V1E1	529	broad.mit.edu	37	chr22	18082820	18082820	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggaaatcttgtttcctGcaacgaacaatcattcgggg	11	8	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:18082820G>A	uc002zmr.1	-	6	595	c.408C>T	c.(406-408)TGC>TGT	p.C136C	ATP6V1E1_uc002zms.1_Silent_p.C106C|ATP6V1E1_uc002zmt.1_Silent_p.C114C	NM_001696	NP_001687	P36543	VATE1_HUMAN	vacuolar H+ ATPase E1 isoform a	136					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain	protein binding|proton-transporting ATPase activity, rotational mechanism			large_intestine(1)|central_nervous_system(1)	2		all_epithelial(15;0.206)		Lung(27;0.19)		CTTGTTTCCTGCAACGAACAA	0.269													A	18082820	G	A	18082820	2	1	74	1	0	0	0	0	0	0	0	1	1183	1311	46	2		2	ATP6V1E1	22	18082820	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1010737	18082820	33221746	1794	52065											
DGCR2	9993	broad.mit.edu	37	chr22	19028754	19028754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgaggcccgtgccaaaccCgtctgggccgtaatcaaagc	12	14	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:19028754C>T	uc002zoq.1	-	9	1461	c.1213G>A	c.(1213-1215)GGG>AGG	p.G405R	DGCR2_uc002zor.1_Missense_Mutation_p.G181R|DGCR2_uc011agr.1_Missense_Mutation_p.G361R	NM_005137	NP_005128	P98153	IDD_HUMAN	integral membrane protein DGCR2 precursor	405	Cytoplasmic (Potential).				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			large_intestine(1)	1	Colorectal(54;0.0993)					GTGCCAAACCCGTCTGGGCCG	0.587													T	19028754	C	T	19028754	3	4	74	1	0	0	0	0	1	0	0	0	4461	652	23	1	447	1	DGCR2	22	19028754	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	945934	19028754	32275812	1795	52066											
VPREB1	7441	broad.mit.edu	37	chr22	22599386	22599386	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagccggtgctgcatcaGccgccggccatgtcctcggc	12	18	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:22599386G>A	uc002zvx.1	+	2	101	c.75G>A	c.(73-75)CAG>CAA	p.Q25Q	LOC96610_uc011aim.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	immunoglobulin iota chain precursor	25	Framework-1.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding				0	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		TGCTGCATCAGCCGCCGGCCA	0.617													A	22599386	G	A	22599386	2	1	74	1	0	0	0	0	0	0	0	1	17183	962	34	2		2	VPREB1	22	22599386	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	3570632	22599386	28705180	1796	52067											
PRAME	23532	broad.mit.edu	37	chr22	22890686	22890686	+	Frame_Shift_Del	DEL	G	G	-													gatgtcctcataactctccaGggggacaggatacagcacgt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:22890685_22890685AG>A	uc002zwf.3	-	4	1490	c.1334_1334CT>T	c.(1333-1335)ctgfs	p.L445fs	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Frame_Shift_Del_p.L429fs|PRAME_uc010gtr.3_Frame_Shift_Del_p.L445fs|PRAME_uc002zwg.3_Frame_Shift_Del_p.L445fs|PRAME_uc002zwh.3_Frame_Shift_Del_p.L445fs|PRAME_uc002zwi.3_Frame_Shift_Del_p.L445fs|PRAME_uc002zwj.3_Frame_Shift_Del_p.L445fs|PRAME_uc002zwk.3_Frame_Shift_Del_p.L445fs	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	445	Mediates interaction with RARA.				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ATAACTCTCCAGGGGGACAGG	0.577													-	22890686	G	-	22890686	7	5	74	1	0	1	0	1	0	0	0	0	12424	991	35	0	200	0	PRAME	22	22890686	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	291300	22890686	28413880	1797	52068											
BCR	613	broad.mit.edu	37	chr22	23615883	23615883	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgcaggacgccctccgCatctcacagaacttcctgtc	8	16	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:23615883C>T	uc002zww.2	+	8	2633	c.2037C>T	c.(2035-2037)CGC>CGT	p.R679R	BCR_uc002zwx.2_Silent_p.R679R|BCR_uc011aiy.1_Silent_p.R268R|BCR_uc010gtx.1_Silent_p.R146R	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	679	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						ACGCCCTCCGCATCTCACAGA	0.582			T	ABL1| FGFR1|JAK2 	CML|ALL|AML								T	23615883	C	T	23615883	2	4	74	1	0	0	0	0	0	0	0	1	1388	697	25	2		2	BCR	22	23615883	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	725197	23615883	27688683	1798	52069											
SUSD2	56241	broad.mit.edu	37	chr22	24583691	24583691	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcacaagaggcagccaaaCtatgtggggacgatcatttc	12	9	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:24583691C>T	uc002zzn.1	+	12	2088	c.2044C>T	c.(2044-2046)CTA>TTA	p.L682L		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	682	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						GGCAGCCAAACTATGTGGGGA	0.617													T	24583691	C	T	24583691	2	4	74	1	0	0	0	0	0	0	0	1	15405	564	20	4		4	SUSD2	22	24583691	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	967808	24583691	26720875	1799	52070											
MYO18B	84700	broad.mit.edu	37	chr22	26286756	26286756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgaccttgccgatgagCgcttcaaaggtgatgtggcc	12	12	2	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:26286756C>T	uc003abz.1	+	26	4598	c.4348C>T	c.(4348-4350)CGC>TGC	p.R1450C	MYO18B_uc003aca.1_Missense_Mutation_p.R1331C|MYO18B_uc010guy.1_Missense_Mutation_p.R1332C|MYO18B_uc010guz.1_Missense_Mutation_p.R1331C|MYO18B_uc011aka.1_Missense_Mutation_p.R604C|MYO18B_uc011akb.1_Missense_Mutation_p.R963C	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1450	Potential.|Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						TGCCGATGAGCGCTTCAAAGG	0.597													T	26286756	C	T	26286756	3	4	74	1	0	0	0	0	1	0	0	0	10066	768	27	1	4446	1	MYO18B	22	26286756	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1703065	26286756	25017810	1800	52071											
MYO18B	84700	broad.mit.edu	37	chr22	26423244	26423244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaagcctcgactacgaacGcaagaccaaagtggacttcg	9	14	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:26423244G>A	uc003abz.1	+	43	7554	c.7304G>A	c.(7303-7305)CGC>CAC	p.R2435H	MYO18B_uc003aca.1_Missense_Mutation_p.R2316H|MYO18B_uc010guy.1_Missense_Mutation_p.R2317H|MYO18B_uc010guz.1_Missense_Mutation_p.R2315H|MYO18B_uc011aka.1_Missense_Mutation_p.R1589H|MYO18B_uc011akb.1_Missense_Mutation_p.R1948H|MYO18B_uc010gva.1_Missense_Mutation_p.R418H|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2435						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						GACTACGAACGCAAGACCAAA	0.562													A	26423244	G	A	26423244	3	1	74	1	0	0	0	0	1	0	0	0	10066	1087	38	1	7470	1	MYO18B	22	26423244	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	136488	26423244	24881322	1801	52072											
MYO18B	84700	broad.mit.edu	37	chr22	26423522	26423522	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgacagcatcaaaagtcgaCcaggaatcccacgacttgcg	9	13	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:26423522C>G	uc003abz.1	+	43	7832	c.7582C>G	c.(7582-7584)CCA>GCA	p.P2528A	MYO18B_uc003aca.1_Missense_Mutation_p.P2409A|MYO18B_uc010guy.1_Missense_Mutation_p.P2410A|MYO18B_uc010guz.1_Missense_Mutation_p.P2408A|MYO18B_uc011aka.1_Missense_Mutation_p.P1682A|MYO18B_uc011akb.1_Missense_Mutation_p.P2041A|MYO18B_uc010gva.1_Missense_Mutation_p.P511A|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2528						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CAAAAGTCGACCAGGAATCCC	0.607													G	26423522	C	G	26423522	3	3	74	1	0	0	0	0	1	0	0	0	10066	507	18	5	7748	5	MYO18B	22	26423522	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	278	26423522	24881044	1802	52073											
TFIP11	24144	broad.mit.edu	37	chr22	26902876	26902876	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctgatgaagttgactggCgcagagtagtcacgggccct	15	10	1	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:26902876C>T	uc003acr.2	-	4	602	c.228G>A	c.(226-228)GCG>GCA	p.A76A	TFIP11_uc003acs.2_Silent_p.A76A|TFIP11_uc003act.2_Silent_p.A76A	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	76					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						AGTTGACTGGCGCAGAGTAGT	0.527													T	26902876	C	T	26902876	2	4	74	1	0	0	0	0	0	0	0	1	15804	755	27	1		1	TFIP11	22	26902876	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	479354	26902876	24401690	1803	52074											
AP1B1	162	broad.mit.edu	37	chr22	29750665	29750665	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacgatgagattgatgttGcgcagggccacatactgcag	13	9	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:29750665G>A	uc003afj.2	-	7	1096	c.912C>T	c.(910-912)CGC>CGT	p.R304R	AP1B1_uc003afi.2_Silent_p.R304R|AP1B1_uc003afk.2_Silent_p.R304R|AP1B1_uc003afl.2_Silent_p.R304R	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	304					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						GATTGATGTTGCGCAGGGCCA	0.587													A	29750665	G	A	29750665	2	1	74	1	0	0	0	0	0	0	0	1	731	1306	46	2		2	AP1B1	22	29750665	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2847789	29750665	21553901	1804	52075											
ASCC2	84164	broad.mit.edu	37	chr22	30210714	30210714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggtgtggtattggcccCgtccccttgcaaaccacagt	12	13	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:30210714C>T	uc003agr.2	-	7	757	c.652G>A	c.(652-654)GGG>AGG	p.G218R	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.G218R|ASCC2_uc011akr.1_Missense_Mutation_p.G142R	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GTATTGGCCCCGTCCCCTTGC	0.567													T	30210714	C	T	30210714	3	4	74	1	0	0	0	0	1	0	0	0	1032	652	23	1	1677	1	ASCC2	22	30210714	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	460049	30210714	21093852	1805	52076											
OSM	5008	broad.mit.edu	37	chr22	30660085	30660085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttgcgctgaaaagcatcCgaggcaggggtgggggtggg	20	7	0	1	rs115512471	by1000genomes	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:30660085C>T	uc003ahb.2	-	3	598	c.546G>A	c.(544-546)TCG>TCA	p.S182S		NM_020530	NP_065391	P13725	ONCM_HUMAN	oncostatin M precursor	182					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			skin(1)	1			Epithelial(10;0.206)			GAAAAGCATCCGAGGCAGGGG	0.652													T	30660085	C	T	30660085	2	4	74	1	0	0	0	0	0	0	0	1	11291	639	23	1		1	OSM	22	30660085	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	449371	30660085	20644481	1806	52077											
PLA2G3	50487	broad.mit.edu	37	chr22	31535952	31535952	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgccctgctgctcgcttcTtcctggcccctgctggactc	9	18	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:31535952T>A	uc003aka.2	-	1	518	c.389A>T	c.(388-390)AAG>ATG	p.K130M		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	130					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0						TGCTCGCTTCTTCCTGGCCCC	0.627													A	31535952	T	A	31535952	3	1	74	1	0	0	0	0	1	0	0	0	12000	1609	56	5	1168	5	PLA2G3	22	31535952	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	875867	31535952	19768614	1807	52078											
PATZ1	23598	broad.mit.edu	37	chr22	31731813	31731813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacaggccaggtgggagcGcagacggtctcgggtggcaa	18	9	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:31731813G>A	uc003akq.2	-	3	2033	c.1372C>T	c.(1372-1374)CGC>TGC	p.R458C	PATZ1_uc003akp.2_Missense_Mutation_p.R458C|PATZ1_uc003akr.2_Missense_Mutation_p.R458C	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	458	C2H2-type 5.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2						AGGTGGGAGCGCAGACGGTCT	0.562													A	31731813	G	A	31731813	3	1	74	1	0	0	0	0	1	0	0	0	11476	1087	38	1	703	1	PATZ1	22	31731813	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	195861	31731813	19572753	1808	52079											
SFI1	9814	broad.mit.edu	37	chr22	31957338	31957338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgagccgtgccctccatgCctctgctttgaagcacaggg	12	13	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:31957338C>T	uc003ale.2	+	8	1118	c.725C>T	c.(724-726)GCC>GTC	p.A242V	SFI1_uc003ald.1_Missense_Mutation_p.A218V|SFI1_uc003alf.2_Missense_Mutation_p.A242V|SFI1_uc003alg.2_Missense_Mutation_p.A160V|SFI1_uc011alp.1_Missense_Mutation_p.A160V|SFI1_uc011alq.1_Missense_Mutation_p.A218V|SFI1_uc003alh.2_RNA	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	242					G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						GCCCTCCATGCCTCTGCTTTG	0.567											OREG0026480	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	31957338	C	T	31957338	3	4	74	1	0	0	0	0	1	0	0	0	14156	739	26	2	751	2	SFI1	22	31957338	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	225525	31957338	19347228	1809	52080											
SFI1	9814	broad.mit.edu	37	chr22	32011096	32011096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagccccctccctgacgcGgcccttcctggcagaggccc	11	20	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:32011096G>A	uc003ale.2	+	29	3524	c.3131G>A	c.(3130-3132)CGG>CAG	p.R1044Q	SFI1_uc003alf.2_Missense_Mutation_p.R1013Q|SFI1_uc003alg.2_Missense_Mutation_p.R962Q|SFI1_uc011alp.1_Missense_Mutation_p.R950Q|SFI1_uc011alq.1_Missense_Mutation_p.R989Q|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA|SFI1_uc003ali.2_Missense_Mutation_p.R136Q|SFI1_uc003alj.2_Missense_Mutation_p.R178Q	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	1044					G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						TCCCTGACGCGGCCCTTCCTG	0.697													A	32011096	G	A	32011096	3	1	74	1	0	0	0	0	1	0	0	0	14156	1116	39	1	3241	1	SFI1	22	32011096	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	53758	32011096	19293470	1810	52081											
PISD	23761	broad.mit.edu	37	chr22	32015742	32015742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcccttacgcatggggacGccctctctattggtgtgcgt	12	13	1	0	rs137875167	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:32015742G>A	uc003alm.3	-	8	1093	c.1086C>T	c.(1084-1086)GGC>GGT	p.G362G	PISD_uc003alk.2_Silent_p.G328G|PISD_uc003all.2_3'UTR|PISD_uc011alr.1_Silent_p.G327G|PISD_uc003aln.3_Silent_p.G324G	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	362					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(2)|ovary(1)	3					Phosphatidylserine(DB00144)	GCATGGGGACGCCCTCTCTAT	0.577													A	32015742	G	A	32015742	2	1	74	1	0	0	0	0	0	0	0	1	11946	1074	38	1		1	PISD	22	32015742	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	4646	32015742	19288824	1811	52082											
DEPDC5	9681	broad.mit.edu	37	chr22	32302481	32302481	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgcatgccagtgccccgTgaggccaggctgcacctgtg	14	13	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:32302481T>C	uc003als.2	+	42	4859	c.4717T>C	c.(4717-4719)TGA>CGA	p.*1573R	DEPDC5_uc011als.1_Nonstop_Mutation_p.*1504R|DEPDC5_uc011alu.1_Nonstop_Mutation_p.*1604R|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Nonstop_Mutation_p.*1595R|DEPDC5_uc003alu.2_Nonstop_Mutation_p.*1022R|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Nonstop_Mutation_p.*871R|DEPDC5_uc011alx.1_Nonstop_Mutation_p.*421R|DEPDC5_uc010gwk.2_3'UTR|DEPDC5_uc011aly.1_Nonstop_Mutation_p.*421R	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1573					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						CAGTGCCCCGTGAGGCCAGGC	0.617													C	32302481	T	C	32302481	4	2	74	1	0	0	0	0	0	0	0	0	4442	1709	59	3	4967	3	DEPDC5	22	32302481	Nonstop_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	286739	32302481	19002085	1812	52083											
LARGE	9215	broad.mit.edu	37	chr22	33712138	33712138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggctcatactcgtagtGcaggaagtacaggtgggtgc	15	8	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:33712138G>A	uc003and.3	-	12	1963	c.1384C>T	c.(1384-1386)CAC>TAC	p.H462Y	LARGE_uc011amd.1_Missense_Mutation_p.H261Y|LARGE_uc003ane.3_Missense_Mutation_p.H462Y|LARGE_uc010gwp.2_Missense_Mutation_p.H410Y|LARGE_uc011ame.1_Missense_Mutation_p.H394Y|LARGE_uc011amf.1_Missense_Mutation_p.H462Y|LARGE_uc010gwq.1_RNA	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	462	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				TACTCGTAGTGCAGGAAGTAC	0.617													A	33712138	G	A	33712138	3	1	74	1	0	0	0	0	1	0	0	0	8627	1319	46	2	906	2	LARGE	22	33712138	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1409657	33712138	17592428	1813	52084											
MYH9	4627	broad.mit.edu	37	chr22	36718564	36718564	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagctgccgctccagctcGccctgcaaggaacccaggga	12	16	0	0	rs139466141	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:36718564G>A	uc003apg.2	-	6	846	c.615C>T	c.(613-615)GGC>GGT	p.G205G	MYH9_uc003aph.1_Silent_p.G69G	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	205	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GCTCCAGCTCGCCCTGCAAGG	0.667			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				A	36718564	G	A	36718564	2	1	74	1	0	0	0	0	0	0	0	1	10042	1074	38	1		1	MYH9	22	36718564	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	3006426	36718564	14586002	1814	52085											
SSTR3	6753	broad.mit.edu	37	chr22	37603075	37603075	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacggccaccaccatgcgCgtgaccctgcgttcggagcg	12	17	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:37603075C>T	uc003ara.2	-	2	830	c.768G>A	c.(766-768)ACG>ACA	p.T256T	SSTR3_uc003arb.2_Silent_p.T256T	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	256	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1						CCACCATGCGCGTGACCCTGC	0.682													T	37603075	C	T	37603075	2	4	74	1	0	0	0	0	0	0	0	1	15198	755	27	1		1	SSTR3	22	37603075	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	884511	37603075	13701491	1815	52086											
CDC42EP1	11135	broad.mit.edu	37	chr22	37964270	37964270	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgaccttgggccctcactcCtcagcgagctgctaggggtc	12	15	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:37964270C>A	uc003asz.3	+	3	1022	c.619C>A	c.(619-621)CTC>ATC	p.L207I		NM_152243	NP_689449	Q00587	BORG5_HUMAN	CDC42 effector protein 1	207					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding				0	Melanoma(58;0.0574)					GCCCTCACTCCTCAGCGAGCT	0.662													A	37964270	C	A	37964270	3	1	74	1	0	0	0	0	1	0	0	0	3075	681	24	5	625	5	CDC42EP1	22	37964270	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	361195	37964270	13340296	1816	52087											
PICK1	9463	broad.mit.edu	37	chr22	38470374	38470374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagtaccgcctgatcctgCgctgccgccaggaggcgcgc	14	15	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:38470374C>T	uc003auq.2	+	12	1285	c.895C>T	c.(895-897)CGC>TGC	p.R299C	PICK1_uc003aur.2_Missense_Mutation_p.R299C|PICK1_uc003aus.2_Missense_Mutation_p.R299C|PICK1_uc003aut.2_Missense_Mutation_p.R299C	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	protein interacting with C kinase 1	299	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding				0	Melanoma(58;0.045)					CCTGATCCTGCGCTGCCGCCA	0.687											OREG0026555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	38470374	C	T	38470374	3	4	74	1	0	0	0	0	1	0	0	0	11881	768	27	1	937	1	PICK1	22	38470374	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	506104	38470374	12834192	1817	52088											
DDX17	10521	broad.mit.edu	37	chr22	38890734	38890734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttgatctgggtgtaatcaCgaaggaaatcctctgcaagc	11	9	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:38890734C>T	uc003avy.3	-	8	1218	c.1115G>A	c.(1114-1116)CGT>CAT	p.R372H	DDX17_uc003avx.3_Missense_Mutation_p.R372H|DDX17_uc011anu.1_Missense_Mutation_p.R285H	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	DEAD box polypeptide 17 isoform 3	293	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			skin(3)|upper_aerodigestive_tract(1)	4	Melanoma(58;0.0286)					GGTGTAATCACGAAGGAAATC	0.458													T	38890734	C	T	38890734	3	4	74	1	0	0	0	0	1	0	0	0	4344	536	19	1	1104	1	DDX17	22	38890734	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	420360	38890734	12413832	1818	52089											
JOSD1	9929	broad.mit.edu	37	chr22	39085018	39085018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtaggcccctcccacctctCgaacacagatccagtgctgc	8	17	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:39085018C>T	uc003awf.2	-	3	898	c.431G>A	c.(430-432)CGA>CAA	p.R144Q		NM_014876	NP_055691	Q15040	JOS1_HUMAN	Josephin domain containing 1	144	Josephin.						peptidase activity				0	Melanoma(58;0.04)					TCCCACCTCTCGAACACAGAT	0.557													T	39085018	C	T	39085018	3	4	74	1	0	0	0	0	1	0	0	0	7958	884	31	1	185	1	JOSD1	22	39085018	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	194284	39085018	12219548	1819	52090											
CACNA1I	8911	broad.mit.edu	37	chr22	39966799	39966799	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctcctcatctgcagcagcCccagccgctgagccaggagt	10	18	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:39966799C>A	uc003ayc.2	+	1	42	c.42C>A	c.(40-42)GCC>GCA	p.A14A	CACNA1I_uc003ayd.2_Silent_p.A14A	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	14	Cytoplasmic (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CTGCAGCAGCCCCAGCCGCTG	0.697													A	39966799	C	A	39966799	2	1	74	1	0	0	0	0	0	0	0	1	2546	610	22	5		5	CACNA1I	22	39966799	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	881781	39966799	11337767	1820	52091											
CACNA1I	8911	broad.mit.edu	37	chr22	39996631	39996631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcggggacacatggaaccGcctggatttcttcatcgtca	10	13	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:39996631G>A	uc003ayc.2	+	3	455	c.455G>A	c.(454-456)CGC>CAC	p.R152H	CACNA1I_uc003ayd.2_Missense_Mutation_p.R152H|CACNA1I_uc003aye.2_Missense_Mutation_p.R67H|CACNA1I_uc003ayf.2_Missense_Mutation_p.R67H	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	152	I.|Helical; Name=S3 of repeat I; (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	p.R152R(1)		breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACATGGAACCGCCTGGATTTC	0.537													A	39996631	G	A	39996631	3	1	74	1	0	0	0	0	1	0	0	0	2546	1087	38	1	465	1	CACNA1I	22	39996631	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	29832	39996631	11307935	1821	52092											
TNRC6B	23112	broad.mit.edu	37	chr22	40661673	40661673	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggacaacaataacaggtctaCgggtgggtcctggaactttg	13	8	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:40661673C>G	uc011aor.1	+	5	1650	c.1439C>G	c.(1438-1440)ACG>AGG	p.T480R	TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Missense_Mutation_p.T480R|TNRC6B_uc003ayo.2_Missense_Mutation_p.T284R	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	480					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						AACAGGTCTACGGGTGGGTCC	0.478													G	40661673	C	G	40661673	3	3	74	1	0	0	0	0	1	0	0	0	16338	536	19	5	1578	5	TNRC6B	22	40661673	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	665042	40661673	10642893	1822	52093											
L3MBTL2	83746	broad.mit.edu	37	chr22	41620173	41620173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggatggtgacagtgacgaCgacttctggtgccacatgtg	15	8	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:41620173C>T	uc003azo.2	+	9	1146	c.1092C>T	c.(1090-1092)GAC>GAT	p.D364D	L3MBTL2_uc010gyi.1_Silent_p.D273D|L3MBTL2_uc003azn.2_RNA	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2	364	MBT 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3						ACAGTGACGACGACTTCTGGT	0.612													T	41620173	C	T	41620173	2	4	74	1	0	0	0	0	0	0	0	1	8592	535	19	1		1	L3MBTL2	22	41620173	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	958500	41620173	9684393	1823	52094											
L3MBTL2	83746	broad.mit.edu	37	chr22	41626193	41626193	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagacgtggcctcgcccgacAaggcttcaagtccagagctg	12	13	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:41626193A>G	uc003azo.2	+	17	2110	c.2056A>G	c.(2056-2058)AAG>GAG	p.K686E	L3MBTL2_uc003azn.2_RNA|CHADL_uc003azq.3_Intron|CHADL_uc010gyj.2_Intron	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2	686					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3						CTCGCCCGACAAGGCTTCAAG	0.582													G	41626193	A	G	41626193	3	3	74	1	0	0	0	0	1	0	0	0	8592	131	5	3	2122	3	L3MBTL2	22	41626193	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	6020	41626193	9678373	1824	52095											
ACO2	50	broad.mit.edu	37	chr22	41923392	41923392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccaccttgggggccgggCcatcatcaccaagagctttg	12	14	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:41923392C>T	uc003bac.2	+	16	2076	c.2054C>T	c.(2053-2055)GCC>GTC	p.A685V	ACO2_uc003bad.2_Missense_Mutation_p.A710V|POLR3H_uc003bae.2_RNA|POLR3H_uc003baf.2_3'UTR|POLR3H_uc003bag.2_3'UTR|POLR3H_uc003bai.2_3'UTR	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	685					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(2)|ovary(1)|lung(1)	4						GGGGGCCGGGCCATCATCACC	0.617											OREG0026589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	41923392	C	T	41923392	3	4	74	1	0	0	0	0	1	0	0	0	147	739	26	2	2116	2	ACO2	22	41923392	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	297199	41923392	9381174	1825	52096											
WBP2NL	164684	broad.mit.edu	37	chr22	42423145	42423145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggctcctgaaaacgaggCttctcttccctctgcctcct	7	17	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:42423145C>T	uc011ape.1	+	7	906	c.890C>T	c.(889-891)GCT>GTT	p.A297V	WBP2NL_uc003bbt.2_Missense_Mutation_p.A297V|WBP2NL_uc011apk.1_Missense_Mutation_p.A169V|WBP2NL_uc003bbu.2_RNA|WBP2NL_uc003bbv.1_RNA	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	297					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			ovary(2)	2						GAAAACGAGGCTTCTCTTCCC	0.522													T	42423145	C	T	42423145	3	4	74	1	0	0	0	0	1	0	0	0	17257	797	28	2	912	2	WBP2NL	22	42423145	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	499753	42423145	8881421	1826	52097											
NAGA	4668	broad.mit.edu	37	chr22	42463223	42463223	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaccttgtccagtgtggtGcctgggtaacccatgcaggt	12	12	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:42463223G>A	uc003bbx.2	-	5	533	c.396C>T	c.(394-396)GGC>GGT	p.G132G	NAGA_uc003bby.2_Silent_p.G132G|NAGA_uc003bbw.3_Silent_p.G132G	NM_000262	NP_000253	P17050	NAGAB_HUMAN	alpha-N-acetylgalactosaminidase precursor	132					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)	1						CCAGTGTGGTGCCTGGGTAAC	0.602													A	42463223	G	A	42463223	2	1	74	1	0	0	0	0	0	0	0	1	10141	1306	46	2		2	NAGA	22	42463223	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	40078	42463223	8841343	1827	52098											
PARVG	64098	broad.mit.edu	37	chr22	44602226	44602226	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acaaggatgccaagagcacaCtgagggtgctctatggtctg	13	9	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:44602226C>G	uc011aqe.1	+	14	1340	c.916C>G	c.(916-918)CTG>GTG	p.L306V	PARVG_uc003bep.2_Missense_Mutation_p.L306V|PARVG_uc011aqf.1_Missense_Mutation_p.L306V|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA	NM_001137605	NP_001131077	Q9HBI0	PARVG_HUMAN	parvin, gamma	306	CH 2.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding				0		Ovarian(80;0.024)|all_neural(38;0.0299)				CAAGAGCACACTGAGGGTGCT	0.532													G	44602226	C	G	44602226	3	3	74	1	0	0	0	0	1	0	0	0	11470	564	20	5	962	5	PARVG	22	44602226	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2139003	44602226	6702340	1828	52099											
FAM118A	55007	broad.mit.edu	37	chr22	45728354	45728354	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcctttctgtttgtgggcTgtggggagacccttcgtgat	14	8	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chr22:45728354T>C	uc003bfz.3	+	7	1316	c.700T>C	c.(700-702)TGT>CGT	p.C234R	FAM118A_uc003bga.3_Missense_Mutation_p.C234R|FAM118A_uc011aqr.1_Missense_Mutation_p.C52R	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	234						integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GTTTGTGGGCTGTGGGGAGAC	0.473													C	45728354	T	C	45728354	3	2	74	1	0	0	0	0	1	0	0	0	5411	1580	55	3	718	3	FAM118A	22	45728354	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	1126128	45728354	5576212	1829	52100											
CSF2RA	1438	broad.mit.edu	37	chrX	1409361	1409361	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggaaccagccgagaaattgGcatccaattctttgattcac	8	11	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:1409361G>T	uc010nct.2	+	8	927	c.605G>T	c.(604-606)GGC>GTC	p.G202V	CSF2RA_uc011mhb.1_Missense_Mutation_p.G202V|CSF2RA_uc004cpq.2_Missense_Mutation_p.G202V|CSF2RA_uc004cpn.2_Missense_Mutation_p.G202V|CSF2RA_uc004cpo.2_Missense_Mutation_p.G202V|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Missense_Mutation_p.G69V|CSF2RA_uc004cpp.2_Missense_Mutation_p.G202V|CSF2RA_uc010ncv.2_Missense_Mutation_p.G202V|CSF2RA_uc004cpr.2_Missense_Mutation_p.G202V	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	202	Extracellular (Potential).					extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CGAGAAATTGGCATCCAATTC	0.383													T	1409361	G	T	1409361	3	4	74	1	0	0	0	0	1	0	0	0	3934	1203	42	5	623	5	CSF2RA	23	1409361	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08		1409361	153861199	1830	52101											
SLC25A6	293	broad.mit.edu	37	chrX	1508411	1508411	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaagtacctccagaactgCgtgtgcttgtccacgccccc	9	16	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:1508411C>T	uc004cpt.2	-	2	417	c.321G>A	c.(319-321)ACG>ACA	p.T107T	SLC25A6_uc004cpu.2_RNA	NM_001636	NP_001627	P12236	ADT3_HUMAN	adenine nucleotide translocator 3	107				KHTQ -> RHA (in Ref. 5; AAA36750).	active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	TCCAGAACTGCGTGTGCTTGT	0.612													T	1508411	C	T	1508411	2	4	74	1	0	0	0	0	0	0	0	1	14513	755	27	1		1	SLC25A6	23	1508411	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	99050	1508411	153762149	1831	52102											
CD99	4267	broad.mit.edu	37	chrX	2656273	2656273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggacatggagagccacCggaatgccaacgcagagcca	14	11	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:2656273C>T	uc004cqm.2	+	9	682	c.508C>T	c.(508-510)CGG>TGG	p.R170W	CD99_uc010nda.2_Missense_Mutation_p.R154W|CD99_uc004cqn.2_RNA|CD99_uc004cqo.2_Missense_Mutation_p.R169W	NM_002414	NP_002405	P14209	CD99_HUMAN	CD99 antigen isoform a precursor	170	Cytoplasmic (Potential).				cell adhesion	cytoplasm|integral to plasma membrane				skin(1)	1						GGAGAGCCACCGGAATGCCAA	0.507													T	2656273	C	T	2656273	3	4	74	1	0	0	0	0	1	0	0	0	3050	643	23	1	542	1	CD99	23	2656273	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1147862	2656273	152614287	1832	52103											
GYG2	8908	broad.mit.edu	37	chrX	2772036	2772036	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagggtcatcctctcgaaGgtgttcgatgaagtcattga	11	9	3	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:2772036G>T	uc004cqs.1	+	5	540	c.258G>T	c.(256-258)AAG>AAT	p.K86N	GYG2_uc004cqt.1_Missense_Mutation_p.K55N|GYG2_uc004cqu.1_Missense_Mutation_p.K55N|GYG2_uc004cqv.1_Translation_Start_Site|GYG2_uc004cqw.1_Missense_Mutation_p.K46N|GYG2_uc004cqx.1_Missense_Mutation_p.K55N|GYG2_uc010ndc.1_5'Flank	NM_003918	NP_003909	O15488	GLYG2_HUMAN	glycogenin 2 isoform b	86					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			ovary(1)|kidney(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCTCTCGAAGGTGTTCGATG	0.512													T	2772036	G	T	2772036	3	4	74	1	0	0	0	0	1	0	0	0	6906	991	35	5	272	5	GYG2	23	2772036	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	115763	2772036	152498524	1833	52104											
ARSH	347527	broad.mit.edu	37	chrX	2936680	2936680	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaaatatggcaggtatggGgacaatgtagaagaaatgga	14	2	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:2936680G>A	uc011mhj.1	+	5	870	c.870G>A	c.(868-870)GGG>GGA	p.G290G		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	290						integral to membrane	arylsulfatase activity|metal ion binding			lung(1)	1		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCAGGTATGGGGACAATGTAG	0.398													A	2936680	G	A	2936680	2	1	74	1	0	0	0	0	0	0	0	1	993	1219	43	4		4	ARSH	23	2936680	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	164644	2936680	152333880	1834	52105											
MXRA5	25878	broad.mit.edu	37	chrX	3261860	3261860	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggagagggccccccagtgCgcgcgcttgggcatcttgtc	15	14	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:3261860C>T	uc004crg.3	-	2	172	c.15G>A	c.(13-15)GCG>GCA	p.A5A		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	5						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCCCCCAGTGCGCGCGCTTGG	0.627													T	3261860	C	T	3261860	2	4	74	1	0	0	0	0	0	0	0	1	10003	755	27	1		1	MXRA5	23	3261860	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	325180	3261860	152008700	1835	52106											
NLGN4X	57502	broad.mit.edu	37	chrX	5811220	5811220	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcttgtcctttttgtagtAcagcgccgcaaaagctaaga	8	11	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:5811220A>G	uc010ndh.2	-	6	2590	c.2089T>C	c.(2089-2091)TAC>CAC	p.Y697H	NLGN4X_uc004crp.2_Missense_Mutation_p.Y717H|NLGN4X_uc004crq.2_Missense_Mutation_p.Y697H|NLGN4X_uc010ndi.2_Missense_Mutation_p.Y734H|NLGN4X_uc004crr.2_Missense_Mutation_p.Y697H|NLGN4X_uc010ndj.2_Missense_Mutation_p.Y697H	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	697	Helical; (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						TTTTTGTAGTACAGCGCCGCA	0.502													G	5811220	A	G	5811220	3	3	74	1	0	0	0	0	1	0	0	0	10464	391	14	3	365	3	NLGN4X	23	5811220	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	2549360	5811220	149459340	1836	52107											
STS	412	broad.mit.edu	37	chrX	7268078	7268079	+	Frame_Shift_Del	DEL	AG	AG	-													ttgatatttccaaagatcccAgagagagaaacccactaact							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:7268078_7268079delAG	uc004cry.3	+	10	1773_1774	c.1528_1529delAG	c.(1528-1530)AGAfs	p.R510fs		NM_000351	NP_000342	P08842	STS_HUMAN	steryl-sulfatase precursor	510	Lumenal.				female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			central_nervous_system(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CAAAGATCCCAGAGAGAGAAAC	0.515									Ichthyosis				-	7268079	AG	-	7268078	7	5	74	1	0	1	0	1	0	0	0	0	15331	180	7	0	1566	0	STS	23	7268078	Frame_Shift_Del	DEL	AG	TCGA-BR-8361-01A-11D-2340-08	1456858	7268078	148002482	1837	52108											
SHROOM2	357	broad.mit.edu	37	chrX	9864049	9864049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacgtccttcaagcgccgcGacttggaccccaacccagga	9	18	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:9864049G>A	uc004csu.1	+	4	2191	c.2101G>A	c.(2101-2103)GAC>AAC	p.D701N		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	701	ASD1.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				CAAGCGCCGCGACTTGGACCC	0.647													A	9864049	G	A	9864049	3	1	74	1	0	0	0	0	1	0	0	0	14294	1058	37	1	2115	1	SHROOM2	23	9864049	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2595971	9864049	145406511	1838	52109											
SHROOM2	357	broad.mit.edu	37	chrX	9905625	9905625	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaaccactatggacttgAtggaaggcatcttccccaaa	7	11	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:9905625A>G	uc004csu.1	+	7	4129	c.4039A>G	c.(4039-4041)ATG>GTG	p.M1347V	SHROOM2_uc004csv.2_Missense_Mutation_p.M182V|SHROOM2_uc011mic.1_Missense_Mutation_p.M182V|SHROOM2_uc004csw.1_Missense_Mutation_p.M182V	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	1347	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				TATGGACTTGATGGAAGGCAT	0.562													G	9905625	A	G	9905625	3	3	74	1	0	0	0	0	1	0	0	0	14294	333	12	3	4065	3	SHROOM2	23	9905625	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	41576	9905625	145364935	1839	52110											
FRMPD4	9758	broad.mit.edu	37	chrX	12704241	12704241	+	Frame_Shift_Del	DEL	T	T	-													tgttaaggacaactcacttcTttttatgccaaatgttttga							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:12704241delT	uc004cuz.1	+	7	1105	c.599delT	c.(598-600)CTTfs	p.L200fs	FRMPD4_uc011mij.1_Frame_Shift_Del_p.L192fs	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	200					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						AACTCACTTCTTTTTATGCCA	0.363													-	12704241	T	-	12704241	7	5	74	1	0	1	0	1	0	0	0	0	6059	1609	56	0	625	0	FRMPD4	23	12704241	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	2798616	12704241	142566319	1840	52111											
FRMPD4	9758	broad.mit.edu	37	chrX	12734539	12734539	+	Frame_Shift_Del	DEL	T	T	-													aggagctaaagtgtcctttaTttttggagacttcgccttgg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:12734538_12734538AT>A	uc004cuz.2	+	14	2466	c.1960_1960AT>A	c.(1960-1962)attfs	p.I654fs	FRMPD4_uc011mij.2_Frame_Shift_Del_p.I646fs	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	654					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGTGTCCTTTATTTTTGGAGA	0.478													-	12734539	T	-	12734539	7	5	74	1	0	1	0	1	0	0	0	0	6059	1493	52	0	2019	0	FRMPD4	23	12734539	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	30298	12734539	142536021	1841	52112											
FRMPD4	9758	broad.mit.edu	37	chrX	12736566	12736566	+	Frame_Shift_Del	DEL	T	T	-													tcactgcaaagcgagggccaTttttctctgcagagctccca							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:12736566delT	uc004cuz.1	+	16	4127	c.3621delT	c.(3619-3621)CATfs	p.H1207fs	FRMPD4_uc011mij.1_Frame_Shift_Del_p.H1199fs	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1207					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						GCGAGGGCCATTTTTCTCTGC	0.602													-	12736566	T	-	12736566	7	5	74	1	0	1	0	1	0	0	0	0	6059	1490	52	0	3683	0	FRMPD4	23	12736566	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	2027	12736566	142533994	1842	52113											
PRPS2	5634	broad.mit.edu	37	chrX	12838801	12838801	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaaagtgtatgctatccTtacccatgggatcttctctg	7	12	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:12838801T>C	uc004cvb.2	+	6	867	c.743T>C	c.(742-744)CTT>CCT	p.L248P	PRPS2_uc004cva.2_Missense_Mutation_p.L251P|PRPS2_uc010nec.2_Missense_Mutation_p.L126P	NM_002765	NP_002756	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	248					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity				0						TATGCTATCCTTACCCATGGG	0.438													C	12838801	T	C	12838801	3	2	74	1	0	0	0	0	1	0	0	0	12580	1609	56	3	774	3	PRPS2	23	12838801	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	102235	12838801	142431759	1843	52114											
ACE2	59272	broad.mit.edu	37	chrX	15584421	15584421	+	Frame_Shift_Del	DEL	T	T	-													taggaatgatatcagacacaTttttaggtgcagtgacaaag					rs4646179	byFrequency	TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:15584420_15584420AT>A	uc004cxa.1	-	15	2238	c.2070_2070AT>T	c.(2068-2070)aatfs	p.N690fs	ACE2_uc004cxb.2_Frame_Shift_Del_p.N690fs	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	690					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TATCAGACACATTTTTAGGTG	0.383													-	15584421	T	-	15584421	7	5	74	1	0	1	0	1	0	0	0	0	137	1493	52	0	360	0	ACE2	23	15584421	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	2745620	15584421	139686139	1844	52115											
SCML2	10389	broad.mit.edu	37	chrX	18265925	18265926	+	Frame_Shift_Del	DEL	GA	GA	-													ctttgttttggggagcttagGagagagaggaacaacatatg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:18265925_18265926delGA	uc004cyl.2	-	12	1690_1691	c.1533_1534delTC	c.(1531-1536)TCTCCTfs	p.S511fs	SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Frame_Shift_Del_p.S511fs|SCML2_uc011miz.1_Frame_Shift_Del_p.S445fs|SCML2_uc010nfc.2_Frame_Shift_Del_p.S247fs	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	511_512					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)					GGGAGCTTAGGAGAGAGAGGAA	0.411													-	18265926	GA	-	18265925	7	5	74	1	0	1	0	1	0	0	0	0	13910	1174	41	0	584	0	SCML2	23	18265925	Frame_Shift_Del	DEL	GA	TCGA-BR-8361-01A-11D-2340-08	2681504	18265925	137004635	1845	52116											
KLHL34	257240	broad.mit.edu	37	chrX	21675537	21675537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctctggagccagctggcGctccaagtagcgcccacaga	12	14	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:21675537G>A	uc004czz.1	-	1	912	c.370C>T	c.(370-372)CGC>TGC	p.R124C		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	124										ovary(1)	1						GCCAGCTGGCGCTCCAAGTAG	0.662													A	21675537	G	A	21675537	3	1	74	1	0	0	0	0	1	0	0	0	8387	1087	38	1	1568	1	KLHL34	23	21675537	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	3409612	21675537	133595023	1846	52117											
PTCHD1	139411	broad.mit.edu	37	chrX	23412229	23412229	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaagaaaaatcctgagaaccGggaggaaattgagtgtgtag	14	4	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:23412229G>C	uc004dal.3	+	3	2602	c.2594G>C	c.(2593-2595)CGG>CCG	p.R865P		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	865					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						CCTGAGAACCGGGAGGAAATT	0.403													C	23412229	G	C	23412229	3	2	74	1	0	0	0	0	1	0	0	0	12732	1116	39	5	2604	5	PTCHD1	23	23412229	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	1736692	23412229	131858331	1847	52118											
CXorf58	254158	broad.mit.edu	37	chrX	23953371	23953371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcagaaataacagctggcGcaaattaaatcttgaaaata	8	7	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:23953371G>A	uc004daz.1	+	7	958	c.614G>A	c.(613-615)CGC>CAC	p.R205H	CXorf58_uc011mju.1_Missense_Mutation_p.R205H	NM_152761	NP_689974	Q96LI9	CX058_HUMAN	hypothetical protein LOC254158	205											0						AACAGCTGGCGCAAATTAAAT	0.368													A	23953371	G	A	23953371	3	1	74	1	0	0	0	0	1	0	0	0	4114	1087	38	1	636	1	CXorf58	23	23953371	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	541142	23953371	131317189	1848	52119											
FAM48B1	100130302	broad.mit.edu	37	chrX	24382639	24382639	+	Frame_Shift_Del	DEL	C	C	-													ggccctgtccagctgcccagCcccccaccaaattcataaaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:24382638_24382638GC>G	uc011mjx.2	+	0	1761	c.1761_1761GC>G	c.(1759-1761)cagfs	p.Q587fs		NM_001136234	NP_001129706			Homo sapiens family with sequence similarity 48, member B1 (FAM48B1), mRNA.											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(1)|skin(1)	26						CAGCTGCCCAGCCCCCCACCA	0.582													-	24382639	C	-	24382639	7	5	74	1	0	1	0	1	0	0	0	0	5573	739	26	0	1764	0	FAM48B1	23	24382639	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	429268	24382639	130887921	1849	52120											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998805	27998805	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acactatcacccttaagtcaTcaccgctactggccagtcgg	7	15	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:27998805T>C	uc004dbx.1	-	1	762	c.647A>G	c.(646-648)GAT>GGT	p.D216G		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	216	WD 1.									ovary(3)|skin(1)	4						CCTTAAGTCATCACCGCTACT	0.517													C	27998805	T	C	27998805	3	2	74	1	0	0	0	0	1	0	0	0	4277	1435	50	3	1159	3	DCAF8L1	23	27998805	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	3616166	27998805	127271755	1850	52121											
TAB3	257397	broad.mit.edu	37	chrX	30872538	30872538	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atggaggttttggttgactaGatatccctcttgaaggagaa	12	5	1	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:30872538G>C	uc004dcj.2	-	6	1907	c.1244C>G	c.(1243-1245)TCT>TGT	p.S415C	TAB3_uc004dck.2_Missense_Mutation_p.S415C|TAB3_uc010ngl.2_Missense_Mutation_p.S415C	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	415	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			ovary(1)	1						TGGTTGACTAGATATCCCTCT	0.443													C	30872538	G	C	30872538	3	2	74	1	0	0	0	0	1	0	0	0	15494	942	33	5	918	5	TAB3	23	30872538	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2873733	30872538	124398022	1851	52122											
MAGEB16	139604	broad.mit.edu	37	chrX	35820609	35820609	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaagatagtccaagctcctCagaggatacatcagacccca	9	12	2	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:35820609C>T	uc010ngt.1	+	2	575	c.296C>T	c.(295-297)TCA>TTA	p.S99L		NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	99										lung(3)|ovary(2)|breast(1)|skin(1)	7						CCAAGCTCCTCAGAGGATACA	0.478													T	35820609	C	T	35820609	3	4	74	1	0	0	0	0	1	0	0	0	9174	838	29	4	298	4	MAGEB16	23	35820609	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	4948071	35820609	119449951	1852	52123											
FAM47C	442444	broad.mit.edu	37	chrX	37026823	37026823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgccagcacagccagcaCggaaggcgttcgtagaggaa	13	12	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:37026823C>T	uc004ddl.1	+	1	354	c.340C>T	c.(340-342)CGG>TGG	p.R114W		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	114										ovary(3)	3						ACAGCCAGCACGGAAGGCGTT	0.537													T	37026823	C	T	37026823	3	4	74	1	0	0	0	0	1	0	0	0	5571	527	19	1	342	1	FAM47C	23	37026823	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1206214	37026823	118243737	1853	52124											
SRPX	8406	broad.mit.edu	37	chrX	38020284	38020284	+	Frame_Shift_Del	DEL	G	G	-													cttctggaaagttggagcctGgggggaggccttttagaatg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:38020283_38020283TG>T	uc004ddy.2	-	5	810	c.678_678CA>A	c.(676-678)ccafs	p.P226fs	SRPX_uc011mki.2_Frame_Shift_Del_p.P226fs|SRPX_uc004ddz.2_Frame_Shift_Del_p.P206fs|SRPX_uc011mkh.2_Frame_Shift_Del_p.P167fs	NM_006307	NP_006298	P78539	SRPX_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA.	226	HYR.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						AGTTGGAGCCTGGGGGGAGGC	0.428													-	38020284	G	-	38020284	7	5	74	1	0	1	0	1	0	0	0	0	15163	1348	47	0	737	0	SRPX	23	38020284	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	993461	38020284	117250276	1854	52125											
MID1IP1	58526	broad.mit.edu	37	chrX	38664436	38664437	+	Frame_Shift_Ins	INS	-	-	T													cgggaagcgccaatggcagcINStttttcgcgccctctcggga							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:38664436_38664437insT	uc004dei.3	+	3	661_662	c.237_238insT	c.(235-240)AGCTTTfs	p.S79fs	MID1IP1_uc010ngz.2_Frame_Shift_Ins_p.S79fs|MID1IP1_uc004dej.3_Frame_Shift_Ins_p.S79fs	NM_001098790	NP_001092260	Q9NPA3	M1IP1_HUMAN	MID1 interacting G12-like protein	79_80					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus					0						CCAATGGCAGCTTTTTCGCGCC	0.658													T	38664437	-	T	38664436	7	5	74	1	0	1	1	0	0	0	0	0	9577	796	28	0	239	0	MID1IP1	23	38664436	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	644152	38664436	116606124	1855	52126	217	2									
MID1IP1	58526	broad.mit.edu	37	chrX	38664437	38664438	+	Frame_Shift_Ins	INS	-	-	T													gggaagcgccaatggcagctINSttttcgcgccctctcgggac							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:38664436_38664437C>CT	uc022buw.1	+	0	237_238	c.237_238C>CT	c.(235-240)agctttfs	p.S79fs	MID1IP1_uc004dei.4_Frame_Shift_Ins_p.S79fs|MID1IP1_uc010ngz.3_Frame_Shift_Ins_p.S79fs|MID1IP1_uc004dej.4_Frame_Shift_Ins_p.S79fs	NM_021242	NP_067065	Q9NPA3	M1IP1_HUMAN	Homo sapiens MID1 interacting protein 1 (gastrulation specific G12 homolog (zebrafish)) (MID1IP1), transcript variant 1, mRNA.	79					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						CCAATGGCAGCTTTTTCGCGCC	0.658													T	38664438	-	T	38664437	7	5	74	1	0	1	1	0	0	0	0	0	9577	1609	56	0	240	0	MID1IP1	23	38664437	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	1	38664437	116606123	1856	52127	217	2									
MED14	9282	broad.mit.edu	37	chrX	40542153	40542153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaactctgctacccaagtgCggttatttctaccttgtaat	6	11	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:40542153C>T	uc004dex.3	-	17	2293	c.2153G>A	c.(2152-2154)CGC>CAC	p.R718H		NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	718	Interaction with SREBF1.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4						TACCCAAGTGCGGTTATTTCT	0.428													T	40542153	C	T	40542153	3	4	74	1	0	0	0	0	1	0	0	0	9432	768	27	1	2271	1	MED14	23	40542153	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1877716	40542153	114728407	1857	52128											
KDM6A	7403	broad.mit.edu	37	chrX	44928976	44928976	+	Frame_Shift_Del	DEL	G	G	-													cctagcaattcagtaacacaGggggctgctctcaatcacct							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:44928976delG	uc004dge.3	+	17	2451	c.2076delG	c.(2074-2076)CAGfs	p.Q692fs	KDM6A_uc010nhk.2_Frame_Shift_Del_p.Q658fs|KDM6A_uc011mkz.1_Frame_Shift_Del_p.Q744fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.Q647fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.Q699fs|KDM6A_uc011mlc.1_Frame_Shift_Del_p.Q396fs|KDM6A_uc011mld.1_Frame_Shift_Del_p.Q331fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	692					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						CAGTAACACAGGGGGCTGCTC	0.517			D|N|F|S		renal|oesophageal SCC|MM								-	44928976	G	-	44928976	7	5	74	1	0	1	0	1	0	0	0	0	8137	991	35	0	2142	0	KDM6A	23	44928976	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	4386823	44928976	110341584	1858	52129											
CXorf36	79742	broad.mit.edu	37	chrX	45010931	45010931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatttgcaatctgggtaaCgataggcaaatctggagtca	10	6	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:45010931C>T	uc004dgg.2	-	5	1343	c.1268G>A	c.(1267-1269)CGT>CAT	p.R423H		NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	hypothetical protein LOC79742 isoform 1	423						extracellular region				lung(1)	1						ATCTGGGTAACGATAGGCAAA	0.557													T	45010931	C	T	45010931	3	4	74	1	0	0	0	0	1	0	0	0	4106	536	19	1	37	1	CXorf36	23	45010931	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	81955	45010931	110259629	1859	52130											
SYN1	6853	broad.mit.edu	37	chrX	47478909	47478909	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgacgagaagaagccaccGccccccgaggacccggggct	14	16	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:47478909G>A	uc004die.2	-	1	348	c.219C>T	c.(217-219)GGC>GGT	p.G73G	SYN1_uc004did.2_Silent_p.G73G	NM_006950	NP_008881	P17600	SYN1_HUMAN	synapsin I isoform Ia	73	B; linker.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			ovary(1)	1						AGAAGCCACCGCCCCCCGAGG	0.766													A	47478909	G	A	47478909	2	1	74	1	0	0	0	0	0	0	0	1	15437	1074	38	1		1	SYN1	23	47478909	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2467978	47478909	107791651	1860	52131											
SLC38A5	92745	broad.mit.edu	37	chrX	48319068	48319068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggcacagtgagggtcacCgcgagcagcacggccaggcg	16	13	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:48319068C>T	uc010nid.2	-	14	1213	c.1035G>A	c.(1033-1035)GCG>GCA	p.A345A	SLC38A5_uc004djk.3_Silent_p.A294A	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	345	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				ovary(3)	3						TGAGGGTCACCGCGAGCAGCA	0.522													T	48319068	C	T	48319068	2	4	74	1	0	0	0	0	0	0	0	1	14607	639	23	1		1	SLC38A5	23	48319068	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	840159	48319068	106951492	1861	52132											
TBC1D25	4943	broad.mit.edu	37	chrX	48418771	48418771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccacctggccacagccaGtcaggggcctggtggtgggg	17	12	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:48418771G>A	uc004dka.1	+	6	1586	c.1475G>A	c.(1474-1476)AGT>AAT	p.S492N	TBC1D25_uc011mly.1_Missense_Mutation_p.S434N|TBC1D25_uc004dkb.1_Missense_Mutation_p.S238N|TBC1D25_uc011mlz.1_Missense_Mutation_p.S238N|TBC1D25_uc011mma.1_Missense_Mutation_p.S238N|TBC1D25_uc004dkc.1_Missense_Mutation_p.S238N|TBC1D25_uc011mmb.1_Missense_Mutation_p.S496N|TBC1D25_uc011mmc.1_Missense_Mutation_p.S238N|TBC1D25_uc011mmd.1_Missense_Mutation_p.S238N	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	492						intracellular	Rab GTPase activator activity			ovary(1)	1						GCCACAGCCAGTCAGGGGCCT	0.642													A	48418771	G	A	48418771	3	1	74	1	0	0	0	0	1	0	0	0	15612	1029	36	4	1497	4	TBC1D25	23	48418771	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	99703	48418771	106851789	1862	52133											
ERAS	3266	broad.mit.edu	37	chrX	48687628	48687628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgggctcaggcacgccGcagggatgttggcaggcagc	16	14	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:48687628G>A	uc004dky.1	+	1	346	c.95G>A	c.(94-96)CGC>CAC	p.R32H		NM_181532	NP_853510	Q7Z444	RASE_HUMAN	ES cell expressed Ras precursor	32					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			lung(4)|urinary_tract(1)	5						CAGGCACGCCGCAGGGATGTT	0.657													A	48687628	G	A	48687628	3	1	74	1	0	0	0	0	1	0	0	0	5205	1087	38	1	97	1	ERAS	23	48687628	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	268857	48687628	106582932	1863	52134											
KDM5C	8242	broad.mit.edu	37	chrX	53227713	53227713	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcccagagctcgggacacGcaagcctctgcctcactcag	10	16	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:53227713G>A	uc004drz.2	-	17	3008	c.2475C>T	c.(2473-2475)TGC>TGT	p.C825C	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Silent_p.C758C|KDM5C_uc004dsa.2_Silent_p.C824C	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	825					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						CTCGGGACACGCAAGCCTCTG	0.567			N|F|S		clear cell renal carcinoma								A	53227713	G	A	53227713	2	1	74	1	0	0	0	0	0	0	0	1	8135	1079	38	1		1	KDM5C	23	53227713	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	4540085	53227713	102042847	1864	52135											
KDM5C	8242	broad.mit.edu	37	chrX	53247013	53247013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agactggtacatttcataggGataaacaatgcgttcgtagt	10	6	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:53247013G>A	uc004drz.2	-	4	1020	c.487C>T	c.(487-489)CCC>TCC	p.P163S	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.P96S|KDM5C_uc004dsa.2_Missense_Mutation_p.P163S	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	163	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						ATTTCATAGGGATAAACAATG	0.537			N|F|S		clear cell renal carcinoma								A	53247013	G	A	53247013	3	1	74	1	0	0	0	0	1	0	0	0	8135	1174	41	4	4385	4	KDM5C	23	53247013	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	19300	53247013	102023547	1865	52136											
PHF8	23133	broad.mit.edu	37	chrX	54011506	54011506	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgttagacactgtgcccaGcccactgctggagctcccac	9	16	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:54011506G>A	uc004dsu.2	-	18	2465	c.2392C>T	c.(2392-2394)CTG>TTG	p.L798L	PHF8_uc004dst.2_Silent_p.L762L|PHF8_uc004dsv.2_Silent_p.L628L|PHF8_uc004dsw.2_Silent_p.L661L|PHF8_uc004dsx.2_Silent_p.L526L|PHF8_uc004dsy.2_Silent_p.L745L	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	798	Ser-rich.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						ACTGTGCCCAGCCCACTGCTG	0.642													A	54011506	G	A	54011506	2	1	74	1	0	0	0	0	0	0	0	1	11840	962	34	2		2	PHF8	23	54011506	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	764493	54011506	101259054	1866	52137											
FGD1	2245	broad.mit.edu	37	chrX	54496845	54496845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggctctgggggacctggGctggggccagggactggtct	19	10	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:54496845G>A	uc004dtg.2	-	4	1439	c.705C>T	c.(703-705)AGC>AGT	p.S235S	FGD1_uc011moi.1_5'UTR	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	235	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GGGGACCTGGGCTGGGGCCAG	0.642													A	54496845	G	A	54496845	2	1	74	1	0	0	0	0	0	0	0	1	5832	1194	42	2		2	FGD1	23	54496845	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	485339	54496845	100773715	1867	52138											
ITIH5L	347365	broad.mit.edu	37	chrX	54800553	54800553	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatggagctgcttacgtcAataacaaaaaccacattctt	5	10	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:54800553A>G	uc004dtj.2	-	6	894	c.864T>C	c.(862-864)ATT>ATC	p.I288I		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	288	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						TGCTTACGTCAATAACAAAAA	0.408													G	54800553	A	G	54800553	2	3	74	1	0	0	0	0	0	0	0	1	7908	126	5	3		3	ITIH5L	23	54800553	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	303708	54800553	100470007	1868	52139											
ALAS2	212	broad.mit.edu	37	chrX	55041342	55041342	+	Frame_Shift_Del	DEL	G	G	-													agagctccagagagcaccatGgggggcagagaagtggtaaa							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:55041341_55041341TG>T	uc004dua.4	-	8	1414	c.1276_1276CA>A	c.(1276-1278)atgfs	p.M426fs	ALAS2_uc004dub.4_Frame_Shift_Del_p.M413fs|ALAS2_uc004dud.4_Frame_Shift_Del_p.M389fs	NM_000032	NP_000023	P22557	HEM0_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 2 (ALAS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	426					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GAGAGCACCATGGGGGGCAGA	0.602													-	55041342	G	-	55041342	7	5	74	1	0	1	0	1	0	0	0	0	485	1335	47	0	500	0	ALAS2	23	55041342	Frame_Shift_Del	DEL	G	TCGA-BR-8361-01A-11D-2340-08	240789	55041342	100229218	1869	52140											
ZXDB	158586	broad.mit.edu	37	chrX	57620230	57620231	+	In_Frame_Ins	INS	-	-	AGC													atctcttagctcagctagaaINSgcagcaaattctctcacacc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:57620229_57620230A>AAGC	uc004dvd.3	+	0	1961_1962	c.1748_1749A>AAGC	c.(1747-1749)gaa>gAAGC	p.E583E		NM_007157	NP_009088	P98169	ZXDB_HUMAN	Homo sapiens zinc finger, X-linked, duplicated B (ZXDB), mRNA.	583	Required for transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GCTCAGCTAGAAGCAGCAAATT	0.465													AGC	57620231	-	AGC	57620230	7	5	74	1	0	1	1	0	0	0	0	0	18248	69	3	0	1751	0	ZXDB	23	57620230	In_Frame_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	2578888	57620230	97650330	1870	52141											
ZC3H12B	340554	broad.mit.edu	37	chrX	64721989	64721989	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcttgtgactgccctaagtGttcccacaatcccacccccc	6	19	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:64721989G>C	uc010nko.2	+	5	1387	c.1378G>C	c.(1378-1380)GTT>CTT	p.V460L		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	460							endonuclease activity|nucleic acid binding|zinc ion binding			lung(1)|kidney(1)|pancreas(1)	3						TGCCCTAAGTGTTCCCACAAT	0.597													C	64721989	G	C	64721989	3	2	74	1	0	0	0	0	1	0	0	0	17559	1377	48	5	1429	5	ZC3H12B	23	64721989	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	7101759	64721989	90548571	1871	52142											
ZC3H12B	340554	broad.mit.edu	37	chrX	64722644	64722644	+	Frame_Shift_Del	DEL	C	C	-													caatatccatcctggggcaaCcccccagccaggccgtgccc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:64722644delC	uc010nko.2	+	5	2042	c.2033delC	c.(2032-2034)ACCfs	p.T678fs		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	678							endonuclease activity|nucleic acid binding|zinc ion binding			lung(1)|kidney(1)|pancreas(1)	3						CCTGGGGCAACCCCCCAGCCA	0.607													-	64722644	C	-	64722644	7	5	74	1	0	1	0	1	0	0	0	0	17559	507	18	0	2084	0	ZC3H12B	23	64722644	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	655	64722644	90547916	1872	52143											
LAS1L	81887	broad.mit.edu	37	chrX	64749526	64749526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgagaatccacctcttcGctgcctttgctgtctccatc	6	15	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:64749526G>A	uc004dwa.1	-	5	819	c.747C>T	c.(745-747)AGC>AGT	p.S249S	LAS1L_uc004dwc.1_Silent_p.S249S|LAS1L_uc004dwd.1_Silent_p.S207S	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	LAS1-like	249						MLL1 complex|nucleolus	protein binding			ovary(3)|large_intestine(1)	4						CCACCTCTTCGCTGCCTTTGC	0.488													A	64749526	G	A	64749526	2	1	74	1	0	0	0	0	0	0	0	1	8636	1078	38	1		1	LAS1L	23	64749526	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	26882	64749526	90521034	1873	52144											
AR	367	broad.mit.edu	37	chrX	66766153	66766153	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccccacgctcgcatcaagCtggagaacccgctggactac	9	16	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:66766153C>A	uc004dwu.1	+	1	2280	c.1165C>A	c.(1165-1167)CTG>ATG	p.L389M	AR_uc011mpd.1_Missense_Mutation_p.L389M|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.L389M	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	387	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TCGCATCAAGCTGGAGAACCC	0.716									Androgen_Insensitivity_Syndrome				A	66766153	C	A	66766153	3	1	74	1	0	0	0	0	1	0	0	0	836	796	28	5	1167	5	AR	23	66766153	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2016627	66766153	88504407	1874	52145											
OPHN1	4983	broad.mit.edu	37	chrX	67293124	67293124	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtgcagcgctttcctcAggtggacctaaatagatctg	13	10	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:67293124A>G	uc004dww.3	-	20	1998	c.1704T>C	c.(1702-1704)CCT>CCC	p.P568P	OPHN1_uc011mpg.1_Silent_p.P568P	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	568					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2						CGCTTTCCTCAGGTGGACCTA	0.473													G	67293124	A	G	67293124	2	3	74	1	0	0	0	0	0	0	0	1	10875	175	7	3		3	OPHN1	23	67293124	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	526971	67293124	87977436	1875	52146											
FAM155B	27112	broad.mit.edu	37	chrX	68725895	68725895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcggctggaccgacacgCtcaggaaaaatatgacgagt	12	11	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:68725895C>T	uc004dxk.2	+	1	818	c.770C>T	c.(769-771)GCT>GTT	p.A257V		NM_015686	NP_056501	O75949	F155B_HUMAN	transmembrane protein 28	257						integral to membrane				ovary(1)|breast(1)	2						GACCGACACGCTCAGGAAAAA	0.592													T	68725895	C	T	68725895	3	4	74	1	0	0	0	0	1	0	0	0	5466	797	28	2	772	2	FAM155B	23	68725895	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1432771	68725895	86544665	1876	52147											
DLG3	1741	broad.mit.edu	37	chrX	69720431	69720431	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtccattgaagcccttatGtaagtgttgaactgagaact	9	7	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:69720431G>A	uc004dyi.1	+	17	2583	c.2255_splice	c.e17+1	p.M752_splice	DLG3_uc004dyj.1_Splice_Site_p.M447_splice|DLG3_uc011mpn.1_Splice_Site_p.M300_splice	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a						axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					AAGCCCTTATGTAAGTGTTGA	0.443													A	69720431	G	A	69720431	5	1	74	1	0	0	0	0	0	0	1	0	4556	1391	48	4	2610	4	DLG3	23	69720431	Splice_Site	SNP	G	TCGA-BR-8361-01A-11D-2340-08	994536	69720431	85550129	1877	52148											
MED12	9968	broad.mit.edu	37	chrX	70348159	70348159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctagggtgaatgacatcGcaatcctgtgtgcagagctg	12	10	0	3	rs41303701		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:70348159G>A	uc004dyy.2	+	23	3422	c.3223G>A	c.(3223-3225)GCA>ACA	p.A1075T	MED12_uc011mpq.1_Missense_Mutation_p.A1075T|MED12_uc004dyz.2_Missense_Mutation_p.A1075T|MED12_uc004dza.2_Missense_Mutation_p.A922T|MED12_uc010nla.2_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1075					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					GAATGACATCGCAATCCTGTG	0.483													A	70348159	G	A	70348159	3	1	74	1	0	0	0	0	1	0	0	0	9428	1087	38	1	3313	1	MED12	23	70348159	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	627728	70348159	84922401	1878	52149											
ACRC	93953	broad.mit.edu	37	chrX	70823942	70823942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgacgacagcagtgatgattCggaagctcccgacgacagca	12	12	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:70823942C>T	uc004eae.2	+	8	1316	c.815C>T	c.(814-816)TCG>TTG	p.S272L	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	272	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					AGTGATGATTCGGAAGCTCCC	0.552													T	70823942	C	T	70823942	3	4	74	1	0	0	0	0	1	0	0	0	171	893	31	1	841	1	ACRC	23	70823942	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	475783	70823942	84446618	1879	52150											
SLC16A2	6567	broad.mit.edu	37	chrX	73744204	73744204	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcccacagctccctaagcCtgcgctacttcacctacggg	7	18	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:73744204C>A	uc004ebt.2	+	3	974	c.808C>A	c.(808-810)CTG>ATG	p.L270M	SLC16A2_uc010nlr.1_Translation_Start_Site	NM_006517	NP_006508	P36021	MOT8_HUMAN	solute carrier family 16, member 2	196	Extracellular (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|ovary(1)	3					Pyruvic acid(DB00119)	CTCCCTAAGCCTGCGCTACTT	0.567													A	73744204	C	A	73744204	3	1	74	1	0	0	0	0	1	0	0	0	14408	680	24	5	818	5	SLC16A2	23	73744204	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2920262	73744204	81526356	1880	52151											
MAGEE2	139599	broad.mit.edu	37	chrX	75004553	75004553	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaaactccagcatctcggActgctggatagacccctccg	10	14	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:75004553A>C	uc004ecj.1	-	1	519	c.334T>G	c.(334-336)TCC>GCC	p.S112A		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	112	MAGE 1.									ovary(1)|skin(1)	2						AGCATCTCGGACTGCTGGATA	0.527													C	75004553	A	C	75004553	3	2	74	1	0	0	0	0	1	0	0	0	9186	275	10	5	1241	5	MAGEE2	23	75004553	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1260349	75004553	80266007	1881	52152											
ATRX	546	broad.mit.edu	37	chrX	76814141	76814141	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagaattataaacctaccTgagctaagaacctatataca	5	8	0	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:76814141T>C	uc004ecp.3	-	29	6735	c.6503A>G	c.(6502-6504)CAG>CGG	p.Q2168R	ATRX_uc004ecq.3_Missense_Mutation_p.Q2130R|ATRX_uc004eco.3_Missense_Mutation_p.Q1953R	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	2168	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TAAACCTACCTGAGCTAAGAA	0.328			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76814141	T	C	76814141	3	2	74	1	0	0	0	0	1	0	0	0	1208	1594	55	3	1003	3	ATRX	23	76814141	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	1809588	76814141	78456419	1882	52153											
MAGT1	84061	broad.mit.edu	37	chrX	77111078	77111078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaccagatgtcatagcaaGcacaaaacactaggaaacaa	7	9	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:77111078G>A	uc004fof.2	-	6	840	c.778C>T	c.(778-780)CTT>TTT	p.L260F	MAGT1_uc004fog.3_Intron	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	228	Helical; (Potential).				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				upper_aerodigestive_tract(1)	1						GTCATAGCAAGCACAAAACAC	0.373													A	77111078	G	A	77111078	3	1	74	1	0	0	0	0	1	0	0	0	9196	971	34	2	345	2	MAGT1	23	77111078	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	296937	77111078	78159482	1883	52154											
PGAM4	441531	broad.mit.edu	37	chrX	77224949	77224949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccagagggtccggatcaCtctcttctgcactgaggtga	12	11	3	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:77224949C>T	uc004ecy.1	-	1	187	c.187G>A	c.(187-189)GTG>ATG	p.V63M	ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.3_Intron	NM_001029891	NP_001025062	Q8N0Y7	PGAM4_HUMAN	bisphosphoglycerate mutase 4	63					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity				0						GTCCGGATCACTCTCTTCTGC	0.607													T	77224949	C	T	77224949	3	4	74	1	0	0	0	0	1	0	0	0	11775	565	20	4	581	4	PGAM4	23	77224949	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	113871	77224949	78045611	1884	52155											
DACH2	117154	broad.mit.edu	37	chrX	85769380	85769380	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcctcttatcgccaggacTtatcactccgacaggtaata	8	12	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:85769380T>G	uc004eew.2	+	3	796	c.626T>G	c.(625-627)CTT>CGT	p.L209R	DACH2_uc004eex.2_Missense_Mutation_p.L196R|DACH2_uc010nmq.2_Missense_Mutation_p.L75R|DACH2_uc011mra.1_Missense_Mutation_p.L42R|DACH2_uc010nmr.2_5'UTR	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						TCGCCAGGACTTATCACTCCG	0.493													G	85769380	T	G	85769380	3	3	74	1	0	0	0	0	1	0	0	0	4221	1609	56	5	636	5	DACH2	23	85769380	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	8544431	85769380	69501180	1885	52156											
KLHL4	56062	broad.mit.edu	37	chrX	86890732	86890732	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtaggggggcatgatgccCctgcttccaaccattgctcc	11	13	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:86890732C>A	uc004efb.2	+	9	2064	c.1882C>A	c.(1882-1884)CCT>ACT	p.P628T	KLHL4_uc004efa.2_Missense_Mutation_p.P628T	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	628	Kelch 5.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GCATGATGCCCCTGCTTCCAA	0.408													A	86890732	C	A	86890732	3	1	74	1	0	0	0	0	1	0	0	0	8391	623	22	5	1916	5	KLHL4	23	86890732	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1121352	86890732	68379828	1886	52157											
CPXCR1	53336	broad.mit.edu	37	chrX	88008751	88008751	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaaatgatagatcaagatcCcactcagggaaagttgagat	9	6	2	4			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:88008751C>A	uc004efd.3	+	3	595	c.336C>A	c.(334-336)TCC>TCA	p.S112S	CPXCR1_uc004efc.3_Silent_p.S112S	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	112						intracellular	zinc ion binding			ovary(3)	3						GATCAAGATCCCACTCAGGGA	0.393													A	88008751	C	A	88008751	2	1	74	1	0	0	0	0	0	0	0	1	3836	610	22	5		5	CPXCR1	23	88008751	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1118019	88008751	67261809	1887	52158											
PABPC5	140886	broad.mit.edu	37	chrX	90690585	90690585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctcagagagatggggagCggggagcctaatcctgctgg	18	8	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:90690585C>T	uc004efg.2	+	2	449	c.9C>T	c.(7-9)AGC>AGT	p.S3S	PABPC5_uc004eff.1_Intron	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	3						cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3						AGATGGGGAGCGGGGAGCCTA	0.498													T	90690585	C	T	90690585	2	4	74	1	0	0	0	0	0	0	0	1	11367	767	27	1		1	PABPC5	23	90690585	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	2681834	90690585	64579975	1888	52159											
PABPC5	140886	broad.mit.edu	37	chrX	90690988	90690988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattctgtcctgcaaagtcGtatgcgatgacaacggctct	9	11	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:90690988G>A	uc004efg.2	+	2	852	c.412G>A	c.(412-414)GTA>ATA	p.V138I	PABPC5_uc004eff.1_Intron	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	138	RRM 2.					cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3						CTGCAAAGTCGTATGCGATGA	0.453													A	90690988	G	A	90690988	3	1	74	1	0	0	0	0	1	0	0	0	11367	1145	40	1	414	1	PABPC5	23	90690988	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	403	90690988	64579572	1889	52160											
PCDH19	57526	broad.mit.edu	37	chrX	99551563	99551563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacagccattgcctgcctcCcggataacgctgttgacctt	8	15	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:99551563C>T	uc010nmz.2	-	6	4835	c.3159G>A	c.(3157-3159)CGG>CGA	p.R1053R	PCDH19_uc004efw.3_Silent_p.R1005R|PCDH19_uc004efx.3_Silent_p.R1006R	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	1053	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						TGCCTGCCTCCCGGATAACGC	0.597													T	99551563	C	T	99551563	2	4	74	1	0	0	0	0	0	0	0	1	11514	610	22	4		4	PCDH19	23	99551563	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	8860575	99551563	55718997	1890	52161											
PCDH19	57526	broad.mit.edu	37	chrX	99662739	99662739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgatctgaaagagctcgCgcgtgcggtcgttgacgtag	16	9	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:99662739C>T	uc010nmz.2	-	1	2533	c.857G>A	c.(856-858)CGC>CAC	p.R286H	PCDH19_uc004efw.3_Missense_Mutation_p.R286H|PCDH19_uc004efx.3_Missense_Mutation_p.R286H	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	286	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						AAAGAGCTCGCGCGTGCGGTC	0.607													T	99662739	C	T	99662739	3	4	74	1	0	0	0	0	1	0	0	0	11514	768	27	1	2613	1	PCDH19	23	99662739	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	111176	99662739	55607821	1891	52162											
TCEAL1	9338	broad.mit.edu	37	chrX	102884976	102884978	+	In_Frame_Del	DEL	GGA	GGA	-													tcttcggaggagcagtcctcGgaggaggagttctttcctga							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:102884976_102884978delGGA	uc004eks.2	+	3	306_308	c.132_134delGGA	c.(130-135)TCGGAG>TCG	p.E47del	TCEAL1_uc004ekt.2_In_Frame_Del_p.E47del|TCEAL1_uc004eku.2_In_Frame_Del_p.E47del	NM_001006640	NP_001006641	Q15170	TCAL1_HUMAN	transcription elongation factor A (SII)-like 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						AGCAGTCCTCGGAGGAGGAGTTC	0.64													-	102884978	GGA	-	102884976	7	5	74	1	0	1	0	1	0	0	0	0	15667	1103	39	0	134	0	TCEAL1	23	102884976	In_Frame_Del	DEL	GGA	TCGA-BR-8361-01A-11D-2340-08	3222237	102884976	52385584	1892	52163											
FAM199X	139231	broad.mit.edu	37	chrX	103411513	103411513	+	Frame_Shift_Del	DEL	C	C	-													ttcctacgagaagtttctaaCccccgaggagcccttcccac							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:103411513delC	uc004elw.2	+	1	213	c.47delC	c.(46-48)ACCfs	p.T16fs		NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	hypothetical protein LOC139231	16										ovary(1)	1						AAGTTTCTAACCCCCGAGGAG	0.687													-	103411513	C	-	103411513	7	5	74	1	0	1	0	1	0	0	0	0	5530	507	18	0	49	0	FAM199X	23	103411513	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	526537	103411513	51859047	1893	52164											
ESX1	80712	broad.mit.edu	37	chrX	103495265	103495266	+	Missense_Mutation	DNP	GC	GC	AG													tggcacaggcgccatgcgtgGcccgggtggcacaggcgcca					rs141524947		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:103495265_103495266GC>AG	uc004ely.2	-	4	922_923	c.864_865GC>CT	c.(862-867)GGGCCA>GGCTCA	p.P289S		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	extraembryonic, spermatogenesis, homeobox	289	6.|15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCCATGCGTGGCCCGGGTGGCA	0.559													AG	103495266	GC	AG	103495265	3	1	74	1	0	0	0	0	1	0	0	0	5263	1203	42	2	359	2	ESX1	23	103495265	Missense_Mutation	DNP	GC	TCGA-BR-8361-01A-11D-2340-08	83752	103495265	51775295	1894	52165											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104999216	104999216	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttacacaaaagtggaccAagatactttagactgtgaca	7	9	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:104999216A>G	uc004elz.1	+	10	1994	c.1238A>G	c.(1237-1239)CAA>CGA	p.Q413R		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	413	Cytoplasmic (Potential).|TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						AAAGTGGACCAAGATACTTTA	0.373													G	104999216	A	G	104999216	3	3	74	1	0	0	0	0	1	0	0	0	7662	130	5	3	1272	3	IL1RAPL2	23	104999216	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1503951	104999216	50271344	1895	52166											
NRK	203447	broad.mit.edu	37	chrX	105150564	105150564	+	Frame_Shift_Del	DEL	A	A	-													ggcatcttactggaatcattAaaaaaagacagaaaaaaggt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:105150564delA	uc004emd.2	+	11	1306	c.1003delA	c.(1003-1005)AAAfs	p.K335fs	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	335							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						TGGAATCATTAAAAAAAGACA	0.303										HNSCC(51;0.14)			-	105150564	A	-	105150564	7	5	74	1	0	1	0	1	0	0	0	0	10655	363	13	0	1045	0	NRK	23	105150564	Frame_Shift_Del	DEL	A	TCGA-BR-8361-01A-11D-2340-08	151348	105150564	50119996	1896	52167											
MORC4	79710	broad.mit.edu	37	chrX	106185767	106185767	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgctggaacaaattccttTcagccaaaacacgttccaat	5	11	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:106185767T>C	uc004emu.3	-	15	2597	c.2354A>G	c.(2353-2355)GAA>GGA	p.E785G	MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Missense_Mutation_p.E785G|MORC4_uc004emw.3_Missense_Mutation_p.E533G	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	785	Potential.						ATP binding|zinc ion binding			ovary(1)	1						CAAATTCCTTTCAGCCAAAAC	0.423													C	106185767	T	C	106185767	3	2	74	1	0	0	0	0	1	0	0	0	9704	1783	62	3	471	3	MORC4	23	106185767	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	1035203	106185767	49084793	1897	52168											
VSIG1	340547	broad.mit.edu	37	chrX	107310351	107310351	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaaccaaggcatcctcaaCgtcagtgtgttaggtatgag	10	9	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:107310351C>T	uc004eno.2	+	3	560	c.399C>T	c.(397-399)AAC>AAT	p.N133N	VSIG1_uc011msk.1_Silent_p.N169N	NM_182607	NP_872413	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	133	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						GCATCCTCAACGTCAGTGTGT	0.433													T	107310351	C	T	107310351	2	4	74	1	0	0	0	0	0	0	0	1	17219	535	19	1		1	VSIG1	23	107310351	Silent	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1124584	107310351	47960209	1898	52169											
GUCY2F	2986	broad.mit.edu	37	chrX	108708382	108708382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtacttacttgatcgaactCcagcttctcaggaatttcac	6	11	2	1	rs143967019		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:108708382C>T	uc004eod.3	-	3	1297	c.1021G>A	c.(1021-1023)GAG>AAG	p.E341K	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	341	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						TGATCGAACTCCAGCTTCTCA	0.418													T	108708382	C	T	108708382	3	4	74	1	0	0	0	0	1	0	0	0	6898	864	30	4	2373	4	GUCY2F	23	108708382	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1398031	108708382	46562178	1899	52170											
DCX	1641	broad.mit.edu	37	chrX	110574173	110574173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctggagacttgcttcggCgcataggaccagggctcttg	14	11	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:110574173C>T	uc004epd.2	-	5	1320	c.1148G>A	c.(1147-1149)CGC>CAC	p.R383H	DCX_uc011msv.1_Missense_Mutation_p.R383H|DCX_uc004epe.2_Missense_Mutation_p.R302H|DCX_uc004epf.2_Missense_Mutation_p.R302H|DCX_uc004epg.2_Missense_Mutation_p.R302H	NM_000555	NP_000546	O43602	DCX_HUMAN	doublecortin isoform a	383	Pro/Ser-rich.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			central_nervous_system(2)|lung(1)|skin(1)	4						CTTGCTTCGGCGCATAGGACC	0.527													T	110574173	C	T	110574173	3	4	74	1	0	0	0	0	1	0	0	0	4318	768	27	1	204	1	DCX	23	110574173	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	1865791	110574173	44696387	1900	52171											
TRPC5	7224	broad.mit.edu	37	chrX	111022245	111022245	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtaagtccctcatgtgTtttggaatttcttatcatag	7	7	4	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:111022245T>C	uc004epl.1	-	10	3119	c.2200A>G	c.(2200-2202)ACA>GCA	p.T734A		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	734	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						CCCTCATGTGTTTTGGAATTT	0.323													C	111022245	T	C	111022245	3	2	74	1	0	0	0	0	1	0	0	0	16579	1725	60	3	729	3	TRPC5	23	111022245	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	448072	111022245	44248315	1901	52172											
ZCCHC16	340595	broad.mit.edu	37	chrX	111698264	111698264	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaactcttttttgattaccTatctcagcagttagaaagtt	5	8	2	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:111698264T>C	uc004epo.1	+	3	749	c.308T>C	c.(307-309)CTA>CCA	p.L103P		NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	103							nucleic acid binding|zinc ion binding			ovary(1)	1						TTTGATTACCTATCTCAGCAG	0.408													C	111698264	T	C	111698264	3	2	74	1	0	0	0	0	1	0	0	0	17581	1522	53	3	310	3	ZCCHC16	23	111698264	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	676019	111698264	43572296	1902	52173											
AMOT	154796	broad.mit.edu	37	chrX	112025831	112025831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctcctctttctggatgCgagcttctagagctgtgtca	9	12	4	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:112025831C>T	uc004epr.2	-	8	2177	c.2177G>A	c.(2176-2178)CGC>CAC	p.R726H	AMOT_uc004eps.2_Missense_Mutation_p.R317H|AMOT_uc011mtc.1_5'Flank|hsa-mir-4329|MI0015901_5'Flank	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	726	Potential.				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						TTTCTGGATGCGAGCTTCTAG	0.483													T	112025831	C	T	112025831	3	4	74	1	0	0	0	0	1	0	0	0	582	768	27	1	1093	1	AMOT	23	112025831	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	327567	112025831	43244729	1903	52174											
AMOT	154796	broad.mit.edu	37	chrX	112054516	112054516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcatgcatcctccgaatctCgccctctagcttgtttctca	5	15	4	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:112054516C>T	uc004epr.2	-	3	1498	c.1498G>A	c.(1498-1500)GAG>AAG	p.E500K	AMOT_uc004eps.2_Missense_Mutation_p.E91K|AMOT_uc004ept.1_Missense_Mutation_p.E500K	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	500	Potential.				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						CTCCGAATCTCGCCCTCTAGC	0.507													T	112054516	C	T	112054516	3	4	74	1	0	0	0	0	1	0	0	0	582	893	31	1	1792	1	AMOT	23	112054516	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	28685	112054516	43216044	1904	52175											
LRCH2	57631	broad.mit.edu	37	chrX	114384422	114384422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctaatctgtttgctccGcctcctttcttcactctgcc	4	15	5	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:114384422G>A	uc010nqe.2	-	14	1694	c.1663C>T	c.(1663-1665)CGG>TGG	p.R555W	LRCH2_uc004epz.2_Missense_Mutation_p.R555W	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH)	555										ovary(1)	1						TGTTTGCTCCGCCTCCTTTCT	0.318													A	114384422	G	A	114384422	3	1	74	1	0	0	0	0	1	0	0	0	8933	1086	38	1	666	1	LRCH2	23	114384422	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2329906	114384422	40886138	1905	52176											
DOCK11	139818	broad.mit.edu	37	chrX	117817145	117817145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagtcaaatttcagagacAtggtaaaagaattatctgac	7	5	3	3	rs113662446		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:117817145A>G	uc004eqp.2	+	52	6130	c.6067A>G	c.(6067-6069)ATG>GTG	p.M2023V	DOCK11_uc004eqq.2_Missense_Mutation_p.M1802V	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	2023	DHR-2.				blood coagulation	cytosol	GTP binding			ovary(3)	3						TTTCAGAGACATGGTAAAAGA	0.373													G	117817145	A	G	117817145	3	3	74	1	0	0	0	0	1	0	0	0	4686	217	8	3	6273	3	DOCK11	23	117817145	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	3432723	117817145	37453415	1906	52177											
KIAA1210	57481	broad.mit.edu	37	chrX	118221820	118221820	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatttcccacagtcaactGggaaagatgtctgggaagca	10	8	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:118221820G>A	uc004era.3	-	11	3373	c.3373C>T	c.(3373-3375)CAG>TAG	p.Q1125*		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	1125										ovary(4)|skin(1)	5						ACAGTCAACTGGGAAAGATGT	0.473													A	118221820	G	A	118221820	4	1	74	1	0	0	0	0	0	1	0	0	8214	1357	47	4	1772	4	KIAA1210	23	118221820	Nonsense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	404675	118221820	37048740	1907	52178											
KIAA1210	57481	broad.mit.edu	37	chrX	118223448	118223448	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggacaagtgcgagaaagggAcattcctggcagtcttattg	13	7	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:118223448A>T	uc004era.3	-	11	1745	c.1745T>A	c.(1744-1746)GTC>GAC	p.V582D		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	582										ovary(4)|skin(1)	5						CGAGAAAGGGACATTCCTGGC	0.483													T	118223448	A	T	118223448	3	4	74	1	0	0	0	0	1	0	0	0	8214	275	10	5	3400	5	KIAA1210	23	118223448	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	1628	118223448	37047112	1908	52179											
NKRF	55922	broad.mit.edu	37	chrX	118723881	118723881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcacagcttccccagcagCttcatatttgacagttttct	5	12	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:118723881C>T	uc004erq.2	-	2	2160	c.1507G>A	c.(1507-1509)GCT>ACT	p.A503T	NKRF_uc004err.2_Missense_Mutation_p.A503T	NM_017544	NP_060014	O15226	NKRF_HUMAN	transcription factor NRF	503					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			ovary(1)|central_nervous_system(1)	2						TCCCCAGCAGCTTCATATTTG	0.418													T	118723881	C	T	118723881	3	4	74	1	0	0	0	0	1	0	0	0	10447	797	28	2	569	2	NKRF	23	118723881	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	500433	118723881	36546679	1909	52180											
ANKRD58	347454	broad.mit.edu	37	chrX	118893435	118893435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccactgcgtggagggccGcgagcgcagtgggcgcgacg	19	13	0	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:118893435G>A	uc010nql.2	+	1	860	c.805G>A	c.(805-807)GCG>ACG	p.A269T		NM_001105576	NP_001099046	A6NJG2	ANR58_HUMAN	ankyrin repeat domain 58	269											0						GTGGAGGGCCGCGAGCGCAGT	0.677													A	118893435	G	A	118893435	3	1	74	1	0	0	0	0	1	0	0	0	684	1087	38	1	807	1	ANKRD58	23	118893435	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	169554	118893435	36377125	1910	52181											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685584	125685584	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccggatgttctgctggtcCtggcgcagatccaggaaaga	15	10	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:125685584C>A	uc004eul.2	-	1	1259	c.1008G>T	c.(1006-1008)CAG>CAT	p.Q336H		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	336										skin(3)|ovary(1)	4						TCTGCTGGTCCTGGCGCAGAT	0.597													A	125685584	C	A	125685584	3	1	74	1	0	0	0	0	1	0	0	0	4264	680	24	5	387	5	DCAF12L1	23	125685584	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	6792149	125685584	29584976	1911	52182											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685809	125685809	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggcccgcaccttgcggttActggggttgatgatggccct	15	11	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:125685809A>G	uc004eul.2	-	1	1034	c.783T>C	c.(781-783)AGT>AGC	p.S261S		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	261	WD 3.									skin(3)|ovary(1)	4						CCTTGCGGTTACTGGGGTTGA	0.637													G	125685809	A	G	125685809	2	3	74	1	0	0	0	0	0	0	0	1	4264	388	14	3		3	DCAF12L1	23	125685809	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	225	125685809	29584751	1912	52183											
GPC4	2239	broad.mit.edu	37	chrX	132439845	132439846	+	Frame_Shift_Ins	INS	-	-	G													ctgtggttgggcgttcctcgINSgggtgatgtggtctgaagcg							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:132439844_132439845C>CG	uc004exc.1	-	5	1322_1323	c.1110_1111G>CG	c.(1108-1113)cccgagfs	p.P370fs	GPC4_uc011mvg.1_Frame_Shift_Ins_p.P300fs	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	370					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.P370P(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GGGCGTTCCTCGGGGTGATGTG	0.545													G	132439846	-	G	132439845	7	5	74	1	0	1	1	0	0	0	0	0	6600	1103	39	0	576	0	GPC4	23	132439845	Frame_Shift_Ins	INS	-	TCGA-BR-8361-01A-11D-2340-08	6754036	132439845	22830715	1913	52184											
DDX26B	203522	broad.mit.edu	37	chrX	134713913	134713913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaaaacctggtagtaacGcatttgtaggaggagccaaa	10	7	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:134713913G>A	uc004eyw.3	+	15	2572	c.2209G>A	c.(2209-2211)GCA>ACA	p.A737T	DDX26B_uc004eyx.3_Missense_Mutation_p.A338T	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	737											0	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTAGTAACGCATTTGTAGG	0.443													A	134713913	G	A	134713913	3	1	74	1	0	0	0	0	1	0	0	0	4353	1087	38	1	2267	1	DDX26B	23	134713913	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2274068	134713913	20556647	1914	52185											
GPR112	139378	broad.mit.edu	37	chrX	135429446	135429446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatatactttcagtggtgGtggagttgttgccagcttgg	13	8	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:135429446G>A	uc004ezu.1	+	6	3872	c.3581G>A	c.(3580-3582)GGT>GAT	p.G1194D	GPR112_uc010nsb.1_Missense_Mutation_p.G989D|GPR112_uc010nsc.1_Missense_Mutation_p.G961D	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1194	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					TTCAGTGGTGGTGGAGTTGTT	0.468													A	135429446	G	A	135429446	3	1	74	1	0	0	0	0	1	0	0	0	6629	1261	44	4	3591	4	GPR112	23	135429446	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	715533	135429446	19841114	1915	52186											
BRS3	680	broad.mit.edu	37	chrX	135574496	135574496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattagtgtgacctcgttcActgggtgtagtgtgaagcag	13	6	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:135574496A>G	uc004ezv.1	+	3	1311	c.1162A>G	c.(1162-1164)ACT>GCT	p.T388A		NM_001727	NP_001718	P32247	BRS3_HUMAN	bombesin-like receptor 3	388	Cytoplasmic (Potential).				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)					GACCTCGTTCACTGGGTGTAG	0.527													G	135574496	A	G	135574496	3	3	74	1	0	0	0	0	1	0	0	0	1522	159	6	3	1172	3	BRS3	23	135574496	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	145050	135574496	19696064	1916	52187											
GPR101	83550	broad.mit.edu	37	chrX	136112978	136112978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgtgcttccttccttggCcttcaggctgccgtccttgg	10	17	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:136112978C>T	uc011mwh.1	-	1	856	c.856G>A	c.(856-858)GCC>ACC	p.A286T		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	286	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					CCTTCCTTGGCCTTCAGGCTG	0.612													T	136112978	C	T	136112978	3	4	74	1	0	0	0	0	1	0	0	0	6622	739	26	2	673	2	GPR101	23	136112978	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	538482	136112978	19157582	1917	52188											
ZIC3	7547	broad.mit.edu	37	chrX	136649719	136649719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggagcatgtggggggccCggagcagaacaaccacgtct	15	11	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:136649719C>T	uc004fak.2	+	1	1374	c.869C>T	c.(868-870)CCG>CTG	p.P290L		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	290					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GTGGGGGGCCCGGAGCAGAAC	0.607													T	136649719	C	T	136649719	3	4	74	1	0	0	0	0	1	0	0	0	17677	652	23	1	871	1	ZIC3	23	136649719	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	536741	136649719	18620841	1918	52189											
MAGEC1	9947	broad.mit.edu	37	chrX	140993747	140993747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagttcccctgagagtaCtcaaagtccttttgagggtt	10	10	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:140993747C>T	uc004fbt.2	+	4	843	c.557C>T	c.(556-558)ACT>ATT	p.T186I	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	186							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGAGAGTACTCAAAGTCCT	0.502										HNSCC(15;0.026)			T	140993747	C	T	140993747	3	4	74	1	0	0	0	0	1	0	0	0	9180	565	20	4	563	4	MAGEC1	23	140993747	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	4344028	140993747	14276813	1919	52190											
MAGEC1	9947	broad.mit.edu	37	chrX	140994072	140994072	+	Frame_Shift_Del	DEL	T	T	-													cctgagagaactcagagtacTtttgagggttttccccagtc							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:140994072delT	uc004fbt.2	+	4	1168	c.882delT	c.(880-882)ACTfs	p.T294fs	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	294							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGAGTACTTTTGAGGGTT	0.502										HNSCC(15;0.026)			-	140994072	T	-	140994072	7	5	74	1	0	1	0	1	0	0	0	0	9180	1596	56	0	888	0	MAGEC1	23	140994072	Frame_Shift_Del	DEL	T	TCGA-BR-8361-01A-11D-2340-08	325	140994072	14276488	1920	52191											
MAGEC1	9947	broad.mit.edu	37	chrX	140996506	140996506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccatcctcttacaaggatGctttgaaagatgtggaagag	10	7	1	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:140996506G>A	uc004fbt.2	+	4	3602	c.3316G>A	c.(3316-3318)GCT>ACT	p.A1106T	MAGEC1_uc010nsl.1_Missense_Mutation_p.A173T	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1106	MAGE.						protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TTACAAGGATGCTTTGAAAGA	0.453										HNSCC(15;0.026)			A	140996506	G	A	140996506	3	1	74	1	0	0	0	0	1	0	0	0	9180	1319	46	2	3322	2	MAGEC1	23	140996506	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2434	140996506	14274054	1921	52192											
SLITRK2	84631	broad.mit.edu	37	chrX	144906159	144906159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgcttacacaataagtgCcactgagctgctagaaaagc	8	11	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:144906159C>T	uc004fcd.2	+	5	3206	c.2216C>T	c.(2215-2217)GCC>GTC	p.A739V	SLITRK2_uc010nsp.2_Missense_Mutation_p.A739V|SLITRK2_uc010nso.2_Missense_Mutation_p.A739V|SLITRK2_uc011mwq.1_Missense_Mutation_p.A739V|SLITRK2_uc011mwr.1_Missense_Mutation_p.A739V|SLITRK2_uc011mws.1_Missense_Mutation_p.A739V|SLITRK2_uc004fcg.2_Missense_Mutation_p.A739V|SLITRK2_uc011mwt.1_Missense_Mutation_p.A739V|CXorf1_uc004fch.2_5'Flank	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	739	Cytoplasmic (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					ACAATAAGTGCCACTGAGCTG	0.507													T	144906159	C	T	144906159	3	4	74	1	0	0	0	0	1	0	0	0	14743	739	26	2	2218	2	SLITRK2	23	144906159	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	3909653	144906159	10364401	1922	52193											
MTMR1	8776	broad.mit.edu	37	chrX	149905231	149905231	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctccaatgtggatgggacGcattggctggaatatataag	12	7	1	0	rs144577498		TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:149905231G>A	uc004fei.2	+	10	1356	c.1221G>A	c.(1219-1221)ACG>ACA	p.T407T	MTMR1_uc011mya.1_Silent_p.T313T|MTMR1_uc004feh.1_Silent_p.T415T|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_Intron	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	407	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					TGGATGGGACGCATTGGCTGG	0.438													A	149905231	G	A	149905231	2	1	74	1	0	0	0	0	0	0	0	1	9938	1074	38	1		1	MTMR1	23	149905231	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	4999072	149905231	5365329	1923	52194											
ZNF185	7739	broad.mit.edu	37	chrX	152083707	152083707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctcaggccggagtcgcGccacatccttttcatcagct	9	16	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:152083707G>A	uc010ntv.1	+	3	221	c.184G>A	c.(184-186)GCC>ACC	p.A62T	ZNF185_uc011myg.1_Missense_Mutation_p.A62T|ZNF185_uc011myh.1_Missense_Mutation_p.A62T|ZNF185_uc011myi.1_Missense_Mutation_p.A62T|ZNF185_uc011myj.1_Missense_Mutation_p.A62T|ZNF185_uc011myk.1_Missense_Mutation_p.A62T|ZNF185_uc004fgw.3_5'Flank	NM_007150	NP_009081	O15231	ZN185_HUMAN	zinc finger protein 185	62						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CCGGAGTCGCGCCACATCCTT	0.622													A	152083707	G	A	152083707	3	1	74	1	0	0	0	0	1	0	0	0	17749	1087	38	1	194	1	ZNF185	23	152083707	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	2178476	152083707	3186853	1924	52195											
ZNF185	7739	broad.mit.edu	37	chrX	152113917	152113917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggagacccagctgtacccGctcagcaacctgcagatccc	9	16	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:152113917G>A	uc010ntv.1	+	16	1352	c.1315G>A	c.(1315-1317)GCT>ACT	p.A439T	ZNF185_uc011myg.1_Missense_Mutation_p.A471T|ZNF185_uc011myh.1_Missense_Mutation_p.A442T|ZNF185_uc011myi.1_Missense_Mutation_p.A410T|ZNF185_uc011myj.1_Missense_Mutation_p.A380T|ZNF185_uc011myk.1_Missense_Mutation_p.A440T|ZNF185_uc004fgw.3_Missense_Mutation_p.A218T|ZNF185_uc004fgu.2_Missense_Mutation_p.A68T|ZNF185_uc004fgv.2_Missense_Mutation_p.A136T|ZNF185_uc004fgx.2_Missense_Mutation_p.A77T	NM_007150	NP_009081	O15231	ZN185_HUMAN	zinc finger protein 185	439						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGTACCCGCTCAGCAACC	0.627													A	152113917	G	A	152113917	3	1	74	1	0	0	0	0	1	0	0	0	17749	1087	38	1	1621	1	ZNF185	23	152113917	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	30210	152113917	3156643	1925	52196											
ATP2B3	492	broad.mit.edu	37	chrX	152815582	152815582	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgggcttcgtcttggaccTgaagcgggacttccagcccg	14	13	1	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:152815582T>C	uc004fht.1	+	10	1787	c.1661T>C	c.(1660-1662)CTG>CCG	p.L554P	ATP2B3_uc004fhs.1_Missense_Mutation_p.L554P	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	554	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCTTGGACCTGAAGCGGGAC	0.597													C	152815582	T	C	152815582	3	2	74	1	0	0	0	0	1	0	0	0	1141	1580	55	3	1699	3	ATP2B3	23	152815582	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	701665	152815582	2454978	1926	52197											
PLXNB3	5365	broad.mit.edu	37	chrX	153039725	153039725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggtgaagacgctcacgCgcacccacctgtactgcgag	12	15	1	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:153039725C>T	uc004fii.2	+	21	3778	c.3604C>T	c.(3604-3606)CGC>TGC	p.R1202C	PLXNB3_uc010nuk.2_Missense_Mutation_p.R1225C|PLXNB3_uc011mzd.1_Missense_Mutation_p.R841C|PLXNB3_uc004fij.1_5'Flank|SRPK3_uc004fik.2_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1202	IPT/TIG 4.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GACGCTCACGCGCACCCACCT	0.701													T	153039725	C	T	153039725	3	4	74	1	0	0	0	0	1	0	0	0	12125	768	27	1	3800	1	PLXNB3	23	153039725	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	224143	153039725	2230835	1927	52198											
SRPK3	26576	broad.mit.edu	37	chrX	153048555	153048555	+	Frame_Shift_Del	DEL	C	C	-													ggcaacaggcaggggcgccgCccccctcccgctccataggt							TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:153048554_153048554GC>G	uc004fik.3	+	12	3352	c.927_927GC>G	c.(925-927)ccgfs	p.P309fs	SRPK3_uc004fim.3_Frame_Shift_Del_p.P243fs|SRPK3_uc004fil.3_Frame_Shift_Del_p.P243fs|SRPK3_uc004fin.3_Frame_Shift_Del_p.P243fs|SRPK3_uc010nul.3_Frame_Shift_Del_p.P201fs	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA.	243	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGGGCGCCGCCCCCCTCCC	0.677													-	153048555	C	-	153048555	7	5	74	1	0	1	0	1	0	0	0	0	15160	739	26	0	756	0	SRPK3	23	153048555	Frame_Shift_Del	DEL	C	TCGA-BR-8361-01A-11D-2340-08	8830	153048555	2222005	1928	52199											
PDZD4	57595	broad.mit.edu	37	chrX	153069256	153069256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcactttccactccatgCgcggtgcttcagtggccgcg	10	16	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:153069256C>T	uc004fiz.1	-	8	2112	c.1862G>A	c.(1861-1863)CGC>CAC	p.R621H	PDZD4_uc004fiy.1_Missense_Mutation_p.R546H|PDZD4_uc004fix.2_Missense_Mutation_p.R525H|PDZD4_uc004fja.1_Missense_Mutation_p.R627H|PDZD4_uc011mze.1_Missense_Mutation_p.R512H	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	621						cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCACTCCATGCGCGGTGCTTC	0.726													T	153069256	C	T	153069256	3	4	74	1	0	0	0	0	1	0	0	0	11703	768	27	1	451	1	PDZD4	23	153069256	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	20701	153069256	2201304	1929	52200											
PDZD4	57595	broad.mit.edu	37	chrX	153069306	153069306	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcccacccgagggccaccGgccaagctcagggggccgtg	15	18	1	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:153069306G>A	uc004fiz.1	-	8	2062	c.1812C>T	c.(1810-1812)GCC>GCT	p.A604A	PDZD4_uc004fiy.1_Silent_p.A529A|PDZD4_uc004fix.2_Silent_p.A508A|PDZD4_uc004fja.1_Silent_p.A610A|PDZD4_uc011mze.1_Silent_p.A495A	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	604						cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGGGCCACCGGCCAAGCTCA	0.736													A	153069306	G	A	153069306	2	1	74	1	0	0	0	0	0	0	0	1	11703	1103	39	1		1	PDZD4	23	153069306	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	50	153069306	2201254	1930	52201											
L1CAM	3897	broad.mit.edu	37	chrX	153135051	153135051	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgggtcaccattgtgtcActgggctgcacgttgctcag	12	11	3	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:153135051A>G	uc004fjb.2	-	10	1299	c.1191T>C	c.(1189-1191)AGT>AGC	p.S397S	L1CAM_uc004fjc.2_Silent_p.S397S|L1CAM_uc010nuo.2_Silent_p.S392S|L1CAM_uc004fjd.1_Silent_p.S211S	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	397	Extracellular (Potential).|Ig-like C2-type 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCATTGTGTCACTGGGCTGCA	0.607													G	153135051	A	G	153135051	2	3	74	1	0	0	0	0	0	0	0	1	8588	156	6	3		3	L1CAM	23	153135051	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	65745	153135051	2135509	1931	52202											
ARHGAP4	393	broad.mit.edu	37	chrX	153191699	153191699	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaaccccactgctcccacgCggccgtgagcgggcccggcg	14	19	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:153191699C>T	uc004fjk.1	-	1	1	c.-41_splice	c.e1-1		ARHGAP4_uc004fjl.1_Splice_Site|ARHGAP4_uc010nup.1_Splice_Site	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2						apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTCCCACGCGGCCGTGAGC	0.592													T	153191699	C	T	153191699	5	4	74	1	0	0	0	0	0	0	1	0	885	783	27	1		1	ARHGAP4	23	153191699	Splice_Site	SNP	C	TCGA-BR-8361-01A-11D-2340-08	56648	153191699	2078861	1932	52203											
HCFC1	3054	broad.mit.edu	37	chrX	153220367	153220367	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttggcactgggacttagaGccctgggctgcctccagcgc	14	13	0	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:153220367G>T	uc004fjp.2	-	17	4011	c.3483C>A	c.(3481-3483)GGC>GGA	p.G1161G		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1161	HCF repeat 4; degenerate.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGACTTAGAGCCCTGGGCTG	0.706													T	153220367	G	T	153220367	2	4	74	1	0	0	0	0	0	0	0	1	6991	958	34	5		5	HCFC1	23	153220367	Silent	SNP	G	TCGA-BR-8361-01A-11D-2340-08	28668	153220367	2050193	1933	52204											
HCFC1	3054	broad.mit.edu	37	chrX	153229698	153229698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggggcccgtttttgggcGtctttgctttgagtctcttc	14	9	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:153229698G>A	uc004fjp.2	-	3	908	c.380C>T	c.(379-381)ACG>ATG	p.T127M		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	127	Kelch 2.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTTTTTGGGCGTCTTTGCTTT	0.592													A	153229698	G	A	153229698	3	1	74	1	0	0	0	0	1	0	0	0	6991	1145	40	1	5823	1	HCFC1	23	153229698	Missense_Mutation	SNP	G	TCGA-BR-8361-01A-11D-2340-08	9331	153229698	2040862	1934	52205											
TKTL1	8277	broad.mit.edu	37	chrX	153541074	153541074	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggactcacctgaagtcaacAtcacagatgtaaggatgacc	9	10	3	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:153541074A>G	uc004fkg.2	+	6	1000	c.814A>G	c.(814-816)ATC>GTC	p.I272V	TKTL1_uc011mzl.1_Missense_Mutation_p.I266V|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Missense_Mutation_p.I216V	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	272					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGAAGTCAACATCACAGATGT	0.443													G	153541074	A	G	153541074	3	3	74	1	0	0	0	0	1	0	0	0	15932	217	8	3	836	3	TKTL1	23	153541074	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	311376	153541074	1729486	1935	52206											
FLNA	2316	broad.mit.edu	37	chrX	153581382	153581382	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcctacctgcatcgcgggtAtcaatgataaactctgcagg	10	11	2	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:153581382A>G	uc004fkk.2	-	38	6462	c.6213T>C	c.(6211-6213)GAT>GAC	p.D2071D	FLNA_uc004fki.2_Silent_p.D114D|FLNA_uc011mzn.1_Silent_p.D204D|FLNA_uc010nuu.1_Silent_p.D2063D	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	2071	Filamin 19.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATCGCGGGTATCAATGATAA	0.597													G	153581382	A	G	153581382	2	3	74	1	0	0	0	0	0	0	0	1	5933	446	16	3		3	FLNA	23	153581382	Silent	SNP	A	TCGA-BR-8361-01A-11D-2340-08	40308	153581382	1689178	1936	52207											
FAM3A	60343	broad.mit.edu	37	chrX	153741210	153741210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaggaggatgctgaccaCgatccatgtgacacccacac	9	15	0	2			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:153741210C>T	uc004fls.1	-	2	341	c.64G>A	c.(64-66)GTG>ATG	p.V22M	FAM3A_uc004flt.1_Missense_Mutation_p.R3H|FAM3A_uc011mzp.1_Missense_Mutation_p.V22M|FAM3A_uc004flu.1_Missense_Mutation_p.R3H|FAM3A_uc011mzq.1_Missense_Mutation_p.V22M|FAM3A_uc004flw.1_Missense_Mutation_p.V22M	NM_021806	NP_068578	P98173	FAM3A_HUMAN	family 3, member A protein precursor	22						extracellular region				large_intestine(1)	1	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGCTGACCACGATCCATGTG	0.602													T	153741210	C	T	153741210	3	4	74	1	0	0	0	0	1	0	0	0	5556	536	19	1	660	1	FAM3A	23	153741210	Missense_Mutation	SNP	C	TCGA-BR-8361-01A-11D-2340-08	159828	153741210	1529350	1937	52208											
VBP1	7411	broad.mit.edu	37	chrX	154464613	154464613	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccctggaggaagaccttgActttcttcgagatcaattta	8	9	2	3			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:154464613A>G	uc004fnc.2	+	5	547	c.488A>G	c.(487-489)GAC>GGC	p.D163G	VBP1_uc004fnd.2_Missense_Mutation_p.D126G	NM_003372	NP_003363	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	163					'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAAGACCTTGACTTTCTTCGA	0.333													G	154464613	A	G	154464613	3	3	74	1	0	0	0	0	1	0	0	0	17133	275	10	3	506	3	VBP1	23	154464613	Missense_Mutation	SNP	A	TCGA-BR-8361-01A-11D-2340-08	723403	154464613	805947	1938	52209											
CLIC2	1193	broad.mit.edu	37	chrX	154528224	154528224	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctttagttcttcaggctttCtatgattattaaaaataagc	5	7	3	1			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:154528224C>T	uc004fnf.2	-	3	418	c.168_splice	c.e3-1	p.R56_splice	CLIC2_uc010nvj.1_Splice_Site_p.R74_splice	NM_001289	NP_001280	O15247	CLIC2_HUMAN	chloride intracellular channel 2						signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			large_intestine(1)|ovary(1)|skin(1)	3	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTCAGGCTTTCTATGATTATT	0.338													T	154528224	C	T	154528224	5	4	74	1	0	0	0	0	0	0	1	0	3526	927	32	4	592	4	CLIC2	23	154528224	Splice_Site	SNP	C	TCGA-BR-8361-01A-11D-2340-08	63611	154528224	742336	1939	52210											
IL9R	3581	broad.mit.edu	37	chrX	155232627	155232627	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggcacctggctcctggccTgcatctgcatctgcacctgt	11	15	2	0			TCGA-BR-8361-01A-11D-2340-08	TCGA-BR-8361-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26985e4e-fded-436d-a91c-2bec1320d1de	f1302613-5b3d-4f3c-b1d4-117355484e8e	g.chrX:155232627T>C	uc004fnv.1	+	2	264	c.85T>C	c.(85-87)TGC>CGC	p.C29R	IL9R_uc010nvn.2_Missense_Mutation_p.C8R|IL9R_uc004fnu.1_Missense_Mutation_p.C76R	NM_002186	NP_002177	Q01113	IL9R_HUMAN	interleukin 9 receptor precursor	29					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCTCCTGGCCTGCATCTGCAT	0.602													C	155232627	T	C	155232627	3	2	74	1	0	0	0	0	1	0	0	0	7708	1580	55	3	91	3	IL9R	23	155232627	Missense_Mutation	SNP	T	TCGA-BR-8361-01A-11D-2340-08	704403	155232627	37933	1940	52211											
MXRA8	54587	broad.mit.edu	37	chr1	1290109	1290109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgttgcccggagagcccCgggggggcggctccgcgtgg	20	14	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:1290109C>T	uc001aew.2	-	5	933	c.902G>A	c.(901-903)CGG>CAG	p.R301Q	MXRA8_uc001aex.3_Missense_Mutation_p.R301Q|MXRA8_uc001aey.3_Missense_Mutation_p.R301Q|MXRA8_uc010nyl.1_Missense_Mutation_p.R301Q|MXRA8_uc001aez.2_Missense_Mutation_p.R200Q|MXRA8_uc001afa.2_Missense_Mutation_p.R292Q	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	301	Extracellular (Potential).					integral to membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGGAGAGCCCCGGGGGGGCGG	0.741													T	1290109	C	T	1290109	3	4	75	1	0	0	0	0	1	0	0	0	10005	652	23	1	450	1	MXRA8	1	1290109	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08		1290109	247960512	1	52212											
MIB2	142678	broad.mit.edu	37	chr1	1562227	1562227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccgcaggccctgggccGcgtcgggaaggtggtgaaag	17	13	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:1562227G>A	uc001agg.2	+	10	1389	c.1262G>A	c.(1261-1263)CGC>CAC	p.R421H	MIB2_uc001agh.2_Missense_Mutation_p.R407H|MIB2_uc001agi.2_Missense_Mutation_p.R417H|MIB2_uc001agj.2_Missense_Mutation_p.R262H|MIB2_uc001agk.2_Missense_Mutation_p.R356H|MIB2_uc001agl.1_Missense_Mutation_p.R377H|MIB2_uc001agm.2_Missense_Mutation_p.R298H|MIB2_uc010nyq.1_Missense_Mutation_p.R377H|MIB2_uc009vkh.2_Missense_Mutation_p.R227H|MIB2_uc001agn.2_Missense_Mutation_p.R53H|MIB2_uc001ago.2_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	mindbomb homolog 2	421					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCCCTGGGCCGCGTCGGGAAG	0.711													A	1562227	G	A	1562227	3	1	75	1	0	0	0	0	1	0	0	0	9567	1087	38	1	1471	1	MIB2	1	1562227	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	272118	1562227	247688394	2	52213											
CDK11B	984	broad.mit.edu	37	chr1	1635530	1635530	+	Frame_Shift_Del	DEL	G	G	-													accactgggtcaccacgaccGgggtgtaggccttcagaggg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:1635529_1635529CG>C	uc009vks.3	-	15	1851	c.1743_1743CG>G	c.(1741-1743)ccgfs	p.P581fs	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.4_Intron|CDK11B_uc001ahj.4_Frame_Shift_Del_p.P88fs|CDK11B_uc009vkp.3_Frame_Shift_Del_p.P198fs|CDK11B_uc009vkq.3_Intron|CDK11B_uc009vkr.3_Frame_Shift_Del_p.P571fs	NM_024011	NP_076916	P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11A (CDK11A), transcript variant 1, mRNA.	596	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TCACCACGACCGGGGTGTAGG	0.677													-	1635530	G	-	1635530	7	5	75	1	0	1	0	1	0	0	0	0	3127	1116	39	0		0	CDK11B	1	1635530	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	73303	1635530	247615091	3	52214											
PRKCZ	5590	broad.mit.edu	37	chr1	2066734	2066734	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggggagccagaagatggaGgaagctgtaccgtgccaacg	16	10	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:2066734G>T	uc001aiq.2	+	5	529	c.368G>T	c.(367-369)AGG>ATG	p.R123M	PRKCZ_uc001air.2_Translation_Start_Site|PRKCZ_uc010nyw.1_Missense_Mutation_p.R19M|PRKCZ_uc001ais.2_Translation_Start_Site	NM_002744	NP_002735	Q05513	KPCZ_HUMAN	protein kinase C, zeta isoform 1	123	Interaction with SQSTM1 (By similarity).				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(2)	6	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		AGAAGATGGAGGAAGCTGTAC	0.562													T	2066734	G	T	2066734	3	4	75	1	0	0	0	0	1	0	0	0	12517	1000	35	5	386	5	PRKCZ	1	2066734	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	431204	2066734	247183887	4	52215											
NPHP4	261734	broad.mit.edu	37	chr1	5924015	5924015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaggtggaatgtcctccGggaggggtaggggttggtgt	21	5	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:5924015G>A	uc001alq.1	-	29	4341	c.4075C>T	c.(4075-4077)CGG>TGG	p.R1359W	NPHP4_uc001alr.1_3'UTR	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	1359					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AATGTCCTCCGGGAGGGGTAG	0.622													A	5924015	G	A	5924015	3	1	75	1	0	0	0	0	1	0	0	0	10581	1115	39	1	213	1	NPHP4	1	5924015	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	3857281	5924015	243326606	5	52216											
CHD5	26038	broad.mit.edu	37	chr1	6209393	6209393	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggccctcgggcaggtgtcGcacaggatgatctccccacc	12	15	1	1	rs147670357		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:6209393G>A	uc001amb.1	-	8	1174	c.1074C>T	c.(1072-1074)TGC>TGT	p.C358C	CHD5_uc001amc.1_5'Flank	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	358	PHD-type 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGCAGGTGTCGCACAGGATGA	0.602													A	6209393	G	A	6209393	2	1	75	1	0	0	0	0	0	0	0	1	3328	1079	38	1		1	CHD5	1	6209393	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	285378	6209393	243041228	6	52217											
ZBTB48	3104	broad.mit.edu	37	chr1	6648463	6648463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagccgccatcaggagggcCggccccacttctgccagata	11	17	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:6648463C>T	uc009vmc.1	+	9	1765	c.1642C>T	c.(1642-1644)CGG>TGG	p.R548W	ZBTB48_uc001anx.2_Missense_Mutation_p.R548W|ZBTB48_uc009vmd.1_Missense_Mutation_p.R548W|ZBTB48_uc001any.1_Missense_Mutation_p.R186W	NM_005341	NP_005332	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	548						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		TCAGGAGGGCCGGCCCCACTT	0.627													T	6648463	C	T	6648463	3	4	75	1	0	0	0	0	1	0	0	0	17546	643	23	1	1672	1	ZBTB48	1	6648463	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	439070	6648463	242602158	7	52218											
KLHL21	9903	broad.mit.edu	37	chr1	6662470	6662470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcatgtccaggcagttGgccaggtcgagctgctgctg	14	12	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:6662470G>A	uc001aoa.2	-	1	460	c.408C>T	c.(406-408)GCC>GCT	p.A136A	KLHL21_uc001anz.1_Silent_p.A136A|KLHL21_uc009vme.2_5'Flank	NM_014851	NP_055666	Q9UJP4	KLH21_HUMAN	kelch-like 21	136					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)	1	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		CCAGGCAGTTGGCCAGGTCGA	0.706													A	6662470	G	A	6662470	2	1	75	1	0	0	0	0	0	0	0	1	8376	1335	47	4		4	KLHL21	1	6662470	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	14007	6662470	242588151	8	52219											
PHF13	148479	broad.mit.edu	37	chr1	6680128	6680128	+	Frame_Shift_Del	DEL	G	G	-													gcctgggaaagaggggtacaGggggggcttgctgaagctgg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:6680127_6680127AG>A	uc001aob.4	+	2	777	c.406_406AG>A	c.(406-408)aggfs	p.R136fs		NM_153812	NP_722519	Q86YI8	PHF13_HUMAN	Homo sapiens PHD finger protein 13 (PHF13), mRNA.	136					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|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;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		AGAGGGGTACAGGGGGGGCTT	0.602													-	6680128	G	-	6680128	7	5	75	1	0	1	0	1	0	0	0	0	11824	1000	35	0	417	0	PHF13	1	6680128	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	17658	6680128	242570493	9	52220											
CAMTA1	23261	broad.mit.edu	37	chr1	7805020	7805020	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgccaccattagcagtacAatgagctggctggccagtta	10	12	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:7805020A>G	uc001aoi.2	+	17	4515	c.4308A>G	c.(4306-4308)ACA>ACG	p.T1436T	CAMTA1_uc010nzv.1_Silent_p.T523T|CAMTA1_uc001aok.3_Silent_p.T479T|CAMTA1_uc001aoj.2_Silent_p.T392T|CAMTA1_uc009vmf.2_Silent_p.T40T	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTAGCAGTACAATGAGCTGGC	0.507													G	7805020	A	G	7805020	2	3	75	1	0	0	0	0	0	0	0	1	2613	117	5	3		3	CAMTA1	1	7805020	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1124892	7805020	241445601	10	52221											
CLSTN1	22883	broad.mit.edu	37	chr1	9804579	9804579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatccgggatcctcactgCctgggtgccgttgaactcaa	11	14	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:9804579C>T	uc001aqh.2	-	8	1867	c.1108G>A	c.(1108-1110)GCA>ACA	p.A370T	CLSTN1_uc001aqi.2_Missense_Mutation_p.A360T|CLSTN1_uc010oag.1_Missense_Mutation_p.A370T	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	370	Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		ATCCTCACTGCCTGGGTGCCG	0.617													T	9804579	C	T	9804579	3	4	75	1	0	0	0	0	1	0	0	0	3561	739	26	2	1885	2	CLSTN1	1	9804579	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1999559	9804579	239446042	11	52222											
C1orf127	148345	broad.mit.edu	37	chr1	11008529	11008529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggggacttcctggagactTggcggggtcctgttcaggcc	17	10	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:11008529T>C	uc010oao.1	-	8	1221	c.1216A>G	c.(1216-1218)AAG>GAG	p.K406E	C1orf127_uc001arr.1_Missense_Mutation_p.K388E|C1orf127_uc001ars.1_Missense_Mutation_p.K380E	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	hypothetical protein LOC148345	406										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCTGGAGACTTGGCGGGGTCC	0.607													C	11008529	T	C	11008529	3	2	75	1	0	0	0	0	1	0	0	0	1994	1821	63	3	812	3	C1orf127	1	11008529	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1203950	11008529	238242092	12	52223											
EXOSC10	5394	broad.mit.edu	37	chr1	11137673	11137673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacctcagcactgggcagCggtccgctcttcttcactcc	8	17	5	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:11137673C>T	uc001asa.2	-	15	1835	c.1785G>A	c.(1783-1785)CCG>CCA	p.P595P	EXOSC10_uc001asb.2_Silent_p.P595P	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	exosome component 10 isoform 1	595					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			upper_aerodigestive_tract(1)	1	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CACTGGGCAGCGGTCCGCTCT	0.537													T	11137673	C	T	11137673	2	4	75	1	0	0	0	0	0	0	0	1	5314	755	27	1		1	EXOSC10	1	11137673	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	129144	11137673	238112948	13	52224											
MTOR	2475	broad.mit.edu	37	chr1	11181356	11181356	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggtcgtccccagctgTattattgacggcatgctcaa	11	12	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:11181356T>C	uc001asd.2	-	49	7001	c.6880A>G	c.(6880-6882)ACA>GCA	p.T2294A	MTOR_uc001asc.2_Missense_Mutation_p.T499A	NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	2294	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						TCCCCAGCTGTATTATTGACG	0.572													C	11181356	T	C	11181356	3	2	75	1	0	0	0	0	1	0	0	0	9954	1638	57	3	809	3	MTOR	1	11181356	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	43683	11181356	238069265	14	52225											
PTCHD2	57540	broad.mit.edu	37	chr1	11579431	11579431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccaccagaattgcagcCggaagacctccctgcacttc	9	16	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:11579431C>T	uc001ash.3	+	8	2047	c.1909C>T	c.(1909-1911)CGG>TGG	p.R637W	PTCHD2_uc001asi.1_Missense_Mutation_p.R637W	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	637	Cytoplasmic (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GAATTGCAGCCGGAAGACCTC	0.642													T	11579431	C	T	11579431	3	4	75	1	0	0	0	0	1	0	0	0	12733	643	23	1	1935	1	PTCHD2	1	11579431	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	398075	11579431	237671190	15	52226											
CELA2B	51032	broad.mit.edu	37	chr1	15808798	15808798	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgatgctgggccagcataAcctctacgttgcagagtccg	12	12	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:15808798A>G	uc001awl.2	+	4	291	c.266A>G	c.(265-267)AAC>AGC	p.N89S		NM_015849	NP_056933	P08218	CEL2B_HUMAN	elastase 2B preproprotein	89	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						GGCCAGCATAACCTCTACGTT	0.577													G	15808798	A	G	15808798	3	3	75	1	0	0	0	0	1	0	0	0	3212	43	2	3	280	3	CELA2B	1	15808798	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	4229367	15808798	233441823	16	52227											
SPEN	23013	broad.mit.edu	37	chr1	16258881	16258881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgacagaaaagatgctgGcacagacaaaaacccccctg	9	12	0	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:16258881G>A	uc001axk.1	+	11	6350	c.6146G>A	c.(6145-6147)GGC>GAC	p.G2049D	SPEN_uc010obp.1_Missense_Mutation_p.G2008D	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2049					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAGATGCTGGCACAGACAAA	0.512													A	16258881	G	A	16258881	3	1	75	1	0	0	0	0	1	0	0	0	15037	1203	42	2	6188	2	SPEN	1	16258881	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	450083	16258881	232991740	17	52228											
SPEN	23013	broad.mit.edu	37	chr1	16261125	16261125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtgatcgacgatcgtcCggcagacgcgggctcagggg	17	12	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:16261125C>T	uc001axk.1	+	11	8594	c.8390C>T	c.(8389-8391)CCG>CTG	p.P2797L	SPEN_uc010obp.1_Missense_Mutation_p.P2756L	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2797	Interaction with RBPSUH (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GACGATCGTCCGGCAGACGCG	0.597													T	16261125	C	T	16261125	3	4	75	1	0	0	0	0	1	0	0	0	15037	652	23	1	8432	1	SPEN	1	16261125	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2244	16261125	232989496	18	52229											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809260	18809260	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcacctgtatgccatcggCggagagtgtctgaactcggt	15	10	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:18809260C>T	uc001bax.2	+	1	1837	c.1785C>T	c.(1783-1785)GGC>GGT	p.G595G	KLHDC7A_uc009vpg.2_Silent_p.G377G	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	595	Kelch 4.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATGCCATCGGCGGAGAGTGTC	0.701													T	18809260	C	T	18809260	2	4	75	1	0	0	0	0	0	0	0	1	8360	755	27	1		1	KLHDC7A	1	18809260	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2548135	18809260	230441361	19	52230											
KIAA0090	23065	broad.mit.edu	37	chr1	19565789	19565789	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtggcaaagctcactAgggcagtctgggggaaaagc	16	8	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:19565789A>G	uc001bbo.2	-	9	1005	c.962T>C	c.(961-963)CTA>CCA	p.L321P	KIAA0090_uc001bbp.2_Missense_Mutation_p.L321P|KIAA0090_uc001bbq.2_Missense_Mutation_p.L321P|KIAA0090_uc001bbr.2_Missense_Mutation_p.L299P	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	321	Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		AAAGCTCACTAGGGCAGTCTG	0.552													G	19565789	A	G	19565789	3	3	75	1	0	0	0	0	1	0	0	0	8153	420	15	3	2079	3	KIAA0090	1	19565789	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	756529	19565789	229684832	20	52231											
EIF4G3	8672	broad.mit.edu	37	chr1	21226332	21226332	+	Frame_Shift_Del	DEL	T	T	-													ttttcttccacagctttcacTttttttaggtcagaggggtc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:21226331_21226331CT>C	uc001bec.3	-	10	1946	c.1690_1690AG>G	c.(1690-1692)gtgfs	p.V564fs	EIF4G3_uc010odi.2_Frame_Shift_Del_p.V168fs|EIF4G3_uc010odj.2_Frame_Shift_Del_p.V563fs|EIF4G3_uc009vpz.3_Frame_Shift_Del_p.V284fs|EIF4G3_uc001bef.3_Frame_Shift_Del_p.V563fs|EIF4G3_uc001bee.3_Frame_Shift_Del_p.V570fs	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	564					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACAGCTTTCACTTTTTTTAGG	0.438													-	21226332	T	-	21226332	7	5	75	1	0	1	0	1	0	0	0	0	5038	1606	56	0	3156	0	EIF4G3	1	21226332	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	1660543	21226332	228024289	21	52232											
EPHB2	2048	broad.mit.edu	37	chr1	23189542	23189542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctcaggttgtccatctgGgactttcaaggccaaccaag	9	12	4	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:23189542G>A	uc009vqj.1	+	4	969	c.824G>A	c.(823-825)GGG>GAG	p.G275E	EPHB2_uc001bge.2_Missense_Mutation_p.G275E|EPHB2_uc001bgf.2_Missense_Mutation_p.G275E|EPHB2_uc010odu.1_Missense_Mutation_p.G275E	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	275	Extracellular (Potential).|Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TGTCCATCTGGGACTTTCAAG	0.582									Hereditary_Prostate_Cancer				A	23189542	G	A	23189542	3	1	75	1	0	0	0	0	1	0	0	0	5175	1232	43	4	838	4	EPHB2	1	23189542	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1963210	23189542	226061079	22	52233											
GALE	2582	broad.mit.edu	37	chr1	24124675	24124675	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcttctgcaccgactcgcCcacggccttgagccccgcaa	10	18	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:24124675C>A	uc009vqo.1	-	4	493	c.283G>T	c.(283-285)GGC>TGC	p.G95C	GALE_uc001bhv.1_Missense_Mutation_p.G95C|GALE_uc001bhw.1_Missense_Mutation_p.G95C|GALE_uc001bhx.1_Missense_Mutation_p.G95C|GALE_uc009vqp.1_Missense_Mutation_p.G95C|GALE_uc001bhy.1_Missense_Mutation_p.G95C|GALE_uc001bhz.1_Missense_Mutation_p.G21C|GALE_uc001bia.2_5'Flank|GALE_uc009vqq.1_3'UTR	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	UDP-galactose-4-epimerase	95					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity				0		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		ACCGACTCGCCCACGGCCTTG	0.562													A	24124675	C	A	24124675	3	1	75	1	0	0	0	0	1	0	0	0	6202	623	22	5	795	5	GALE	1	24124675	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	935133	24124675	225125946	23	52234											
EXTL1	2134	broad.mit.edu	37	chr1	26349763	26349763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcccacccgttgcgagGtggggctcctggccagctgc	15	14	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:26349763G>A	uc001blf.2	+	1	1493	c.626G>A	c.(625-627)GGT>GAT	p.G209D		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	exostoses-like 1	209	Lumenal (Potential).				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CCGTTGCGAGGTGGGGCTCCT	0.687													A	26349763	G	A	26349763	3	1	75	1	0	0	0	0	1	0	0	0	5325	1261	44	4	628	4	EXTL1	1	26349763	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2225088	26349763	222900858	24	52235											
ARID1A	8289	broad.mit.edu	37	chr1	27023769	27023769	+	Frame_Shift_Del	DEL	C	C	-													aactccccagcccaccgccaCccccaccctcaaccaactgc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:27023769delC	uc001bmv.1	+	1	1248	c.875delC	c.(874-876)ACCfs	p.T292fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.T292fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.T292fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	292					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCACCGCCACCCCCACCCTC	0.761			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								-	27023769	C	-	27023769	7	5	75	1	0	1	0	1	0	0	0	0	913	507	18	0	877	0	ARID1A	1	27023769	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	674006	27023769	222226852	25	52236											
ARID1A	8289	broad.mit.edu	37	chr1	27106804	27106804	+	Frame_Shift_Del	DEL	C	C	-													tggacctgattctggccacaCcccccttcagccgcctggag							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:27106803_27106803AC>A	uc001bmv.1	+	19	6787	c.6414_6414AC>A	c.(6412-6414)acafs	p.T2138fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.T1921fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.T984fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.T466fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.T380fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2138					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTCTGGCCACACCCCCCTTCA	0.587			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27106804	C	-	27106804	7	5	75	1	0	1	0	1	0	0	0	0	913	507	18	0	6493	0	ARID1A	1	27106804	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	83035	27106804	222143817	26	52237											
YTHDF2	51441	broad.mit.edu	37	chr1	29069013	29069013	+	Frame_Shift_Del	DEL	G	G	-													ggtgaagctgcttggtctacGgggggtgacacagccatgcc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:29069012_29069012CG>C	uc021okf.1	+	4	493	c.230_230CG>C	c.(229-231)acgfs	p.T77fs	YTHDF2_uc001brc.3_Frame_Shift_Del_p.T77fs|YTHDF2_uc010ofx.2_Frame_Shift_Del_p.T27fs|YTHDF2_uc001bre.3_Frame_Shift_Del_p.T27fs	NM_001173128	NP_001166299	Q9Y5A9	YTHD2_HUMAN	Homo sapiens YTH domain family, member 2 (YTHDF2), transcript variant 2, mRNA.	77					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTGGTCTACGGGGGGTGAC	0.502													-	29069013	G	-	29069013	7	5	75	1	0	1	0	1	0	0	0	0	17496	1103	39	0	245	0	YTHDF2	1	29069013	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	1962209	29069013	220181608	27	52238											
TMEM200B	399474	broad.mit.edu	37	chr1	29447764	29447764	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtgaagtaccccgacgcgGggacgggtcccagatttctg	16	11	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:29447764G>T	uc001brn.1	-	2	637	c.577C>A	c.(577-579)CCG>ACG	p.P193T		NM_001003682	NP_001003682	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	193	Pro-rich.					integral to membrane					0		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		CCCCGACGCGGGGACGGGTCC	0.687													T	29447764	G	T	29447764	3	4	75	1	0	0	0	0	1	0	0	0	16121	1232	43	5	350	5	TMEM200B	1	29447764	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	378751	29447764	219802857	28	52239											
PUM1	9698	broad.mit.edu	37	chr1	31425154	31425154	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcagcctggaggatttcaTtgaagacaagctggcgctca	13	9	2	2	rs144369611	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:31425154T>C	uc001bsi.1	-	16	2761	c.2648A>G	c.(2647-2649)AAT>AGT	p.N883S	PUM1_uc001bsf.1_Missense_Mutation_p.N549S|PUM1_uc001bsg.1_Missense_Mutation_p.N617S|PUM1_uc001bsh.1_Missense_Mutation_p.N883S|PUM1_uc001bsj.1_Missense_Mutation_p.N857S|PUM1_uc010oga.1_Missense_Mutation_p.N739S|PUM1_uc001bsk.1_Missense_Mutation_p.N919S|PUM1_uc010ogb.1_Missense_Mutation_p.N824S	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	883	PUM-HD.|Pumilio 1.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GAGGATTTCATTGAAGACAAG	0.443													C	31425154	T	C	31425154	3	2	75	1	0	0	0	0	1	0	0	0	12825	1493	52	3	946	3	PUM1	1	31425154	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1977390	31425154	217825467	29	52240											
RNF19B	127544	broad.mit.edu	37	chr1	33402512	33402512	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcaccttgggctctgggGgtcgaggggcaggctgcagt	20	9	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:33402512G>T	uc010oho.1	-	9	2094	c.2094C>A	c.(2092-2094)ACC>ACA	p.T698T	RNF19B_uc001bwm.3_3'UTR|RNF19B_uc010ohp.1_Silent_p.T697T	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B isoform a	698						integral to membrane	ligase activity|protein binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGGCTCTGGGGGTCGAGGGGC	0.592													T	33402512	G	T	33402512	2	4	75	1	0	0	0	0	0	0	0	1	13471	1219	43	5		5	RNF19B	1	33402512	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1977358	33402512	215848109	30	52241											
TRIM62	55223	broad.mit.edu	37	chr1	33612805	33612805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggacggtgttgatccgcagCggctgaacgttcttgccatt	13	11	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:33612805C>T	uc001bxb.2	-	5	2039	c.1401G>A	c.(1399-1401)CCG>CCA	p.P467P		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	467	B30.2/SPRY.					intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)				TGATCCGCAGCGGCTGAACGT	0.517													T	33612805	C	T	33612805	2	4	75	1	0	0	0	0	0	0	0	1	16534	755	27	1		1	TRIM62	1	33612805	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	210293	33612805	215637816	31	52242											
ZSCAN20	7579	broad.mit.edu	37	chr1	33957049	33957049	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagcagccacccaccaggTacctgccccttctatgagga	9	15	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:33957049T>C	uc001bxj.3	+	6	1358	c.1191T>C	c.(1189-1191)GGT>GGC	p.G397G	ZSCAN20_uc001bxk.2_Silent_p.G343G|ZSCAN20_uc009vui.2_Silent_p.G397G	NM_145238	NP_660281	P17040	ZSC20_HUMAN	zinc finger protein 31	397					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ACCCACCAGGTACCTGCCCCT	0.607													C	33957049	T	C	33957049	2	2	75	1	0	0	0	0	0	0	0	1	18229	1625	57	3		3	ZSCAN20	1	33957049	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	344244	33957049	215293572	32	52243											
CSMD2	114784	broad.mit.edu	37	chr1	34164385	34164385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaggccggtcccaggtcCggcgctctccactcagacac	12	17	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:34164385C>T	uc001bxn.1	-	24	3802	c.3773G>A	c.(3772-3774)CGG>CAG	p.R1258Q	CSMD2_uc001bxm.1_Missense_Mutation_p.R1298Q|CSMD2_uc001bxo.1_Missense_Mutation_p.R171Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1258	Sushi 7.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCCCAGGTCCGGCGCTCTCC	0.602													T	34164385	C	T	34164385	3	4	75	1	0	0	0	0	1	0	0	0	3945	652	23	1	6874	1	CSMD2	1	34164385	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	207336	34164385	215086236	33	52244											
DLGAP3	58512	broad.mit.edu	37	chr1	35369944	35369944	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagccccttgcctggcccGgcccccgggtatccatcccg	12	19	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:35369944G>A	uc001byc.2	-	1	1041	c.1041C>T	c.(1039-1041)GCC>GCT	p.A347A		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	347					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				TGCCTGGCCCGGCCCCCGGGT	0.607													A	35369944	G	A	35369944	2	1	75	1	0	0	0	0	0	0	0	1	4561	1103	39	1		1	DLGAP3	1	35369944	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1205559	35369944	213880677	34	52245											
MAP7D1	55700	broad.mit.edu	37	chr1	36644580	36644580	+	Frame_Shift_Del	DEL	A	A	-													gcggcagcgtctggagcgggAaaagcacttccagcagcagg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:36644580delA	uc001bzz.2	+	12	2300	c.2084delA	c.(2083-2085)GAAfs	p.E695fs	MAP7D1_uc001caa.2_Frame_Shift_Del_p.E663fs|MAP7D1_uc001cab.2_Frame_Shift_Del_p.E658fs|MAP7D1_uc001cac.2_Frame_Shift_Del_p.E395fs|MAP7D1_uc001cad.2_Frame_Shift_Del_p.E232fs	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	695	Potential.					cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)				CTGGAGCGGGAAAAGCACTTC	0.677													-	36644580	A	-	36644580	7	5	75	1	0	1	0	1	0	0	0	0	9267	246	9	0	2130	0	MAP7D1	1	36644580	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	1274636	36644580	212606041	35	52246											
KIAA0754	643314	broad.mit.edu	37	chr1	39876236	39876236	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgagaggataatatttgAtgcactaaagctaagcagtg	12	4	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:39876236A>G	uc009vvt.1	+	1	1061	c.299A>G	c.(298-300)GAT>GGT	p.D100G	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	Error:Variant_position_missing_in_O94854_after_alignment											0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATAATATTTGATGCACTAAAG	0.448													G	39876236	A	G	39876236	3	3	75	1	0	0	0	0	1	0	0	0	8192	333	12	3	301	3	KIAA0754	1	39876236	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	3231656	39876236	209374385	36	52247											
MACF1	23499	broad.mit.edu	37	chr1	39910383	39910383	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagacttataatcaactacTtgacaagggcagactcatgc	8	9	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:39910383T>C	uc010oiu.1	+	45	14941	c.14810T>C	c.(14809-14811)CTT>CCT	p.L4937P	MACF1_uc010ois.1_Missense_Mutation_p.L4435P	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATCAACTACTTGACAAGGGC	0.458													C	39910383	T	C	39910383	3	2	75	1	0	0	0	0	1	0	0	0	9144	1609	56	3	19757	3	MACF1	1	39910383	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	34147	39910383	209340238	37	52248											
PABPC4	8761	broad.mit.edu	37	chr1	40030385	40030385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcccaccttgctgccagcGtggattaggcctcatctgtg	10	14	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:40030385G>A	uc010oiv.1	-	9	2204	c.1306C>T	c.(1306-1308)CGC>TGC	p.R436C	PABPC4_uc001cdl.2_Missense_Mutation_p.R436C|PABPC4_uc001cdm.2_Missense_Mutation_p.R436C	NM_003819	NP_003810	Q13310	PABP4_HUMAN	poly A binding protein, cytoplasmic 4 isoform 2	436					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding				0	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGCTGCCAGCGTGGATTAGGC	0.522													A	40030385	G	A	40030385	3	1	75	1	0	0	0	0	1	0	0	0	11366	1145	40	1	704	1	PABPC4	1	40030385	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	120002	40030385	209220236	38	52249											
HPCAL4	51440	broad.mit.edu	37	chr1	40149648	40149648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggcgcgtgatgcgcccGtcgccgtccaggtcgtacat	13	15	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:40149648G>A	uc001cdr.2	-	3	459	c.339C>T	c.(337-339)GAC>GAT	p.D113D	HPCAL4_uc010oix.1_Intron	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	hippocalcin-like protein 4	113	EF-hand 3.|2 (Potential).				central nervous system development	intracellular	calcium ion binding			central_nervous_system(1)	1	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGATGCGCCCGTCGCCGTCCA	0.682													A	40149648	G	A	40149648	2	1	75	1	0	0	0	0	0	0	0	1	7331	1136	40	1		1	HPCAL4	1	40149648	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	119263	40149648	209100973	39	52250											
OXCT2	64064	broad.mit.edu	37	chr1	40236206	40236206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcttccacctccaccgccGtgacgtctgcagctttgcac	7	18	2	1	rs145014048	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:40236206G>A	uc001ceb.1	-	1	815	c.722C>T	c.(721-723)ACG>ATG	p.T241M	BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron|OXCT2_uc009vvu.1_Missense_Mutation_p.T241M	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2 precursor	241					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			pancreas(1)	1	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	CTCCACCGCCGTGACGTCTGC	0.572											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	40236206	G	A	40236206	3	1	75	1	0	0	0	0	1	0	0	0	11330	1145	40	1	835	1	OXCT2	1	40236206	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	86558	40236206	209014415	40	52251											
HIVEP3	59269	broad.mit.edu	37	chr1	41979244	41979244	+	Frame_Shift_Del	DEL	G	G	-													gtgcatgtggtgggccaggcGggggcgcctctgaggatggt					rs150644975	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:41979243_41979243CG>C	uc001cgz.4	-	7	6862	c.5649_5649CG>G	c.(5647-5649)ccgfs	p.P1883fs	HIVEP3_uc001cha.4_Frame_Shift_Del_p.P1883fs|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1883					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GTGGGCCAGGCGGGGGCGCCT	0.657													-	41979244	G	-	41979244	7	5	75	1	0	1	0	1	0	0	0	0	7188	1116	39	0	1580	0	HIVEP3	1	41979244	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	1743038	41979244	207271377	41	52252											
SLC6A9	6536	broad.mit.edu	37	chr1	44468043	44468043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgatgaggcctccccacgCgcagcccagtgagtagaaga	14	12	0	5			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:44468043C>T	uc001cll.2	-	8	1315	c.1123G>A	c.(1123-1125)GCG>ACG	p.A375T	SLC6A9_uc009vxe.2_Missense_Mutation_p.A231T|SLC6A9_uc010okm.1_Missense_Mutation_p.A302T|SLC6A9_uc001clm.2_Missense_Mutation_p.A321T|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.A306T|SLC6A9_uc001cln.2_Missense_Mutation_p.A302T|SLC6A9_uc010oko.1_Missense_Mutation_p.A191T|SLC6A9_uc010okp.1_RNA	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	375	Helical; Name=6; (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCTCCCCACGCGCAGCCCAGT	0.622													T	44468043	C	T	44468043	3	4	75	1	0	0	0	0	1	0	0	0	14691	768	27	1	1025	1	SLC6A9	1	44468043	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2488799	44468043	204782578	42	52253											
SLC6A9	6536	broad.mit.edu	37	chr1	44468551	44468551	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagacttgacccctcggaTgaggcagaggaagacgacca	13	10	0	6			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:44468551T>C	uc001cll.2	-	6	1108	c.916A>G	c.(916-918)ATC>GTC	p.I306V	SLC6A9_uc009vxe.2_Missense_Mutation_p.I162V|SLC6A9_uc010okm.1_Missense_Mutation_p.I233V|SLC6A9_uc001clm.2_Missense_Mutation_p.I252V|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.I237V|SLC6A9_uc001cln.2_Missense_Mutation_p.I233V|SLC6A9_uc010oko.1_Missense_Mutation_p.I122V|SLC6A9_uc010okp.1_RNA	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	306	Helical; Name=4; (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	ACCCCTCGGATGAGGCAGAGG	0.592													C	44468551	T	C	44468551	3	2	75	1	0	0	0	0	1	0	0	0	14691	1464	51	3	1240	3	SLC6A9	1	44468551	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	508	44468551	204782070	43	52254											
PODN	127435	broad.mit.edu	37	chr1	53543377	53543377	+	Frame_Shift_Del	DEL	C	C	-													aacaacaagctggagaagatCcccccgggggccttcagcga							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:53543376_53543376TC>T	uc001cuv.3	+	6	1070	c.902_902TC>T	c.(901-903)atcfs	p.I301fs	PODN_uc010onr.2_Frame_Shift_Del_p.I282fs|PODN_uc010ons.2_Frame_Shift_Del_p.I159fs|PODN_uc001cuw.3_Frame_Shift_Del_p.I282fs	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	253					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTGGAGAAGATCCCCCCGGGG	0.617													-	53543377	C	-	53543377	7	5	75	1	0	1	0	1	0	0	0	0	12178	845	30	0	929	0	PODN	1	53543377	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	9074826	53543377	195707244	44	52255											
USP24	23358	broad.mit.edu	37	chr1	55562631	55562631	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggaaactcttaccgcctgTccttaatgaaggaatagtag	9	9	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:55562631T>C	uc001cyg.3	-	46	5450	c.5450A>G	c.(5449-5451)GAC>GGC	p.D1817G		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	1977					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						TTACCGCCTGTCCTTAATGAA	0.517													C	55562631	T	C	55562631	3	2	75	1	0	0	0	0	1	0	0	0	17052	1667	58	3	2012	3	USP24	1	55562631	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	2019254	55562631	193687990	45	52256											
FGGY	55277	broad.mit.edu	37	chr1	59812017	59812018	+	Frame_Shift_Ins	INS	-	-	G													cagtgtcctccagtacgtcgINSggggggtgatgtctgtggaa					rs145440779	by1000genomes	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:59812016_59812017C>CG	uc009wac.3	+	3	623_624	c.411_412C>CG	c.(409-414)gtcgggfs	p.V137fs	FGGY_uc001czg.2_Frame_Shift_Ins_p.V25fs|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Frame_Shift_Ins_p.V137fs|FGGY_uc001czl.4_Intron	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.5													G	59812018	-	G	59812017	7	5	75	1	0	1	1	0	0	0	0	0	5871	1116	39	0	422	0	FGGY	1	59812017	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	4249386	59812017	189438604	46	52257											
FOXD3	27022	broad.mit.edu	37	chr1	63789108	63789108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcgcgggcagcggttcgGcgggaggcctggccccgagc	20	14	0	0	rs145695569		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:63789108G>A	uc001dax.2	+	1	379	c.379G>A	c.(379-381)GCG>ACG	p.A127T		NM_012183	NP_036315	Q9UJU5	FOXD3_HUMAN	forkhead box D3	127					axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						cagcggttcggcggGAGGCCT	0.299													A	63789108	G	A	63789108	3	1	75	1	0	0	0	0	1	0	0	0	5998	1203	42	2	381	2	FOXD3	1	63789108	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	3977091	63789108	185461513	47	52258											
GNG12	55970	broad.mit.edu	37	chr1	68171151	68171152	+	Frame_Shift_Ins	INS	-	-	T													cactataagatgatgcaagtINSttttttatccttgaaagggt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:68171150_68171151G>GT	uc001dea.2	-	3	407_408	c.202_203C>AC	c.(202-204)actfs	p.T68fs		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 12 (GNG12), mRNA.	68					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						GATGATGCAAGTTTTTTTATCC	0.436													T	68171152	-	T	68171151	7	5	75	1	0	1	1	0	0	0	0	0	6525	1725	60	0	20	0	GNG12	1	68171151	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	4382043	68171151	181079470	48	52259											
SFRS11	9295	broad.mit.edu	37	chr1	70698020	70698020	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtggcaggtcttctgcCtggtggtggactcctgccta	14	11	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:70698020C>A	uc001des.2	+	4	531	c.407C>A	c.(406-408)CCT>CAT	p.P136H	SFRS11_uc001det.2_Missense_Mutation_p.P136H|SFRS11_uc001deu.2_Missense_Mutation_p.P136H|SFRS11_uc001dev.2_Translation_Start_Site|SFRS11_uc001dew.2_Missense_Mutation_p.P76H	NM_004768	NP_004759	Q05519	SRS11_HUMAN	splicing factor, arginine/serine-rich 11	136					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0						GGTCTTCTGCCTGGTGGTGGA	0.448													A	70698020	C	A	70698020	3	1	75	1	0	0	0	0	1	0	0	0	14166	681	24	5	417	5	SFRS11	1	70698020	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2526869	70698020	178552601	49	52260											
CTBS	1486	broad.mit.edu	37	chr1	85029068	85029068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcactacaaggagccccccGgaaagggacttttgcaatgg	12	11	1	0	rs138752249	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:85029068G>A	uc001dka.2	-	6	894	c.829C>T	c.(829-831)CGG>TGG	p.R277W	SPATA1_uc001djz.1_Intron|CTBS_uc001dkc.2_Missense_Mutation_p.R186W|CTBS_uc001dkd.2_Missense_Mutation_p.R71W|CTBS_uc001dkb.2_Missense_Mutation_p.R71W	NM_004388	NP_004379	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl- precursor	277						lysosome	cation binding				0				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GGAGCCCCCCGGAAAGGGACT	0.388													A	85029068	G	A	85029068	3	1	75	1	0	0	0	0	1	0	0	0	3999	1115	39	1	336	1	CTBS	1	85029068	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	14331048	85029068	164221553	50	52261											
CLCA4	22802	broad.mit.edu	37	chr1	87040313	87040313	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgggaaaggacacgttctttCtcatcacatggaacagtctg	10	9	4	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:87040313C>T	uc009wcs.2	+	10	1602	c.1558C>T	c.(1558-1560)CTC>TTC	p.L520F	CLCA4_uc009wct.2_Missense_Mutation_p.L283F|CLCA4_uc009wcu.2_Missense_Mutation_p.L340F	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	520						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CACGTTCTTTCTCATCACATG	0.413													T	87040313	C	T	87040313	3	4	75	1	0	0	0	0	1	0	0	0	3459	913	32	4	1596	4	CLCA4	1	87040313	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2011245	87040313	162210308	51	52262											
BARHL2	343472	broad.mit.edu	37	chr1	91180162	91180162	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggtccatgcgatcctgCacgctcaggtacttctgccg	11	15	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:91180162C>T	uc001dns.2	-	2	819	c.777G>A	c.(775-777)GTG>GTA	p.V259V		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	259	Homeobox.					nucleus	sequence-specific DNA binding			ovary(1)	1		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		TGCGATCCTGCACGCTCAGGT	0.562													T	91180162	C	T	91180162	2	4	75	1	0	0	0	0	0	0	0	1	1314	697	25	2		2	BARHL2	1	91180162	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	4139849	91180162	158070459	52	52263											
CELSR2	1952	broad.mit.edu	37	chr1	109795285	109795285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaggcgacgatggagacGgtgactttattgttgagtcc	15	6	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:109795285G>A	uc001dxa.3	+	1	2645	c.2584G>A	c.(2584-2586)GGT>AGT	p.G862S		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	862	Extracellular (Potential).|Cadherin 7.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGATGGAGACGGTGACTTTAT	0.552													A	109795285	G	A	109795285	3	1	75	1	0	0	0	0	1	0	0	0	3222	1116	39	1	2586	1	CELSR2	1	109795285	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	18615123	109795285	139455336	53	52264											
AMIGO1	57463	broad.mit.edu	37	chr1	110050335	110050335	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaggcttctctacaccccgGcaccagcagcggcaaggggt	13	14	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:110050335G>T	uc001dxx.3	-	2	1582	c.1200C>A	c.(1198-1200)TGC>TGA	p.C400*		NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	AMIGO protein precursor	400	Cytoplasmic (Potential).				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				ovary(1)|breast(1)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CTACACCCCGGCACCAGCAGC	0.547													T	110050335	G	T	110050335	4	4	75	1	0	0	0	0	0	1	0	0	575	1195	42	5	285	5	AMIGO1	1	110050335	Nonsense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	255050	110050335	139200286	54	52265											
KCNC4	3749	broad.mit.edu	37	chr1	110754491	110754491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccgcggacgtgtgcgggCcgctcttcgaagaggagctc	16	14	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:110754491C>T	uc001dzh.2	+	1	427	c.370C>T	c.(370-372)CCG>TCG	p.P124S	KCNC4_uc001dzf.2_Missense_Mutation_p.P124S|KCNC4_uc009wfr.2_Missense_Mutation_p.P124S|KCNC4_uc001dzg.2_Missense_Mutation_p.P124S|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	124	Cytoplasmic (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGTGTGCGGGCCGCTCTTCGA	0.632													T	110754491	C	T	110754491	3	4	75	1	0	0	0	0	1	0	0	0	8017	739	26	2	372	2	KCNC4	1	110754491	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	704156	110754491	138496130	55	52266											
KCNA3	3738	broad.mit.edu	37	chr1	111216088	111216088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtcactgggtgcatatcGccgtaacccactgttgtcat	10	11	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:111216088G>A	uc001dzv.1	-	1	1568	c.1344C>T	c.(1342-1344)GGC>GGT	p.G448G		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	448	Selectivity filter (By similarity).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTGCATATCGCCGTAACCCA	0.562													A	111216088	G	A	111216088	2	1	75	1	0	0	0	0	0	0	0	1	8004	1074	38	1		1	KCNA3	1	111216088	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	461597	111216088	138034533	56	52267											
KCNA3	3738	broad.mit.edu	37	chr1	111216663	111216663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctcgtcgcggaactccgGcagcgtctccaggcagaaga	12	14	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:111216663G>A	uc001dzv.1	-	1	993	c.769C>T	c.(769-771)CCG>TCG	p.P257S		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	257						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGAACTCCGGCAGCGTCTCC	0.662													A	111216663	G	A	111216663	3	1	75	1	0	0	0	0	1	0	0	0	8004	1203	42	2	962	2	KCNA3	1	111216663	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	575	111216663	138033958	57	52268											
KCNA3	3738	broad.mit.edu	37	chr1	111217063	111217063	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcgtctcggggaactgGcaaagggtcttcagctgcgt	15	10	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:111217063G>A	uc001dzv.1	-	1	593	c.369C>T	c.(367-369)TGC>TGT	p.C123C		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	123						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGGGAACTGGCAAAGGGTCT	0.677													A	111217063	G	A	111217063	2	1	75	1	0	0	0	0	0	0	0	1	8004	1195	42	2		2	KCNA3	1	111217063	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	400	111217063	138033558	58	52269											
MAGI3	260425	broad.mit.edu	37	chr1	114226109	114226109	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccatcaaatgctgaggccAaattattagagggtaagagt	10	7	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:114226109A>C	uc001edk.2	+	21	4100	c.3919A>C	c.(3919-3921)AAA>CAA	p.K1307Q	MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	1332					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCTGAGGCCAAATTATTAGA	0.463													C	114226109	A	C	114226109	3	2	75	1	0	0	0	0	1	0	0	0	9192	131	5	5	4055	5	MAGI3	1	114226109	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	3009046	114226109	135024512	59	52270											
SYCP1	6847	broad.mit.edu	37	chr1	115488986	115488986	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaagaacaagaacagtcatCactgagagcatctttggtga	9	8	3	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:115488986C>T	uc001efr.2	+	26	2440	c.2231C>T	c.(2230-2232)TCA>TTA	p.S744L	SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.S744L|SYCP1_uc009wgw.2_Missense_Mutation_p.S744L	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	744	Potential.				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding			skin(1)	1	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)		GAACAGTCATCACTGAGAGCA	0.333													T	115488986	C	T	115488986	3	4	75	1	0	0	0	0	1	0	0	0	15428	838	29	4	2329	4	SYCP1	1	115488986	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1262877	115488986	133761635	60	52271											
MAN1A2	10905	broad.mit.edu	37	chr1	118035834	118035834	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tactgaaagcatggttgatgTcagataaaacagaccatgag	10	6	1	5			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:118035834T>A	uc001ehd.1	+	9	1955	c.1234T>A	c.(1234-1236)TCA>ACA	p.S412T	MAN1A2_uc009whg.1_Missense_Mutation_p.S202T	NM_006699	NP_006690	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	412	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity				0	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		ATGGTTGATGTCAGATAAAAC	0.368													A	118035834	T	A	118035834	3	1	75	1	0	0	0	0	1	0	0	0	9211	1667	58	5	1268	5	MAN1A2	1	118035834	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	2546848	118035834	131214787	61	52272											
WARS2	10352	broad.mit.edu	37	chr1	119619170	119619170	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatggctcccaggtaatTgcccaggtggaggattcctg	12	11	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:119619170T>C	uc001ehn.2	-	2	179	c.151A>G	c.(151-153)AAT>GAT	p.N51D	WARS2_uc010oxf.1_5'UTR|WARS2_uc001ehm.2_Missense_Mutation_p.N51D|WARS2_uc010oxg.1_Missense_Mutation_p.N51D|WARS2_uc010oxh.1_Missense_Mutation_p.N51D|WARS2_uc010oxi.1_5'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	51					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CCCAGGTAATTGCCCAGGTGG	0.458													C	119619170	T	C	119619170	3	2	75	1	0	0	0	0	1	0	0	0	17247	1812	63	3	980	3	WARS2	1	119619170	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1583336	119619170	129631451	62	52273											
PHGDH	26227	broad.mit.edu	37	chr1	120263849	120263849	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaccgctgatgtcatcaaCgcagctgagaaactccaggt	11	11	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:120263849C>T	uc001ehz.2	+	2	422	c.195C>T	c.(193-195)AAC>AAT	p.N65N	PHGDH_uc009whl.2_Translation_Start_Site|PHGDH_uc009whm.2_Translation_Start_Site|PHGDH_uc001eia.2_Silent_p.N65N|PHGDH_uc009whn.2_Silent_p.N65N|PHGDH_uc001eib.2_Silent_p.N31N	NM_006623	NP_006614	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	65					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			ovary(1)	1	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	ATGTCATCAACGCAGCTGAGA	0.517													T	120263849	C	T	120263849	2	4	75	1	0	0	0	0	0	0	0	1	11841	535	19	1		1	PHGDH	1	120263849	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	644679	120263849	128986772	63	52274											
POLR3GL	84265	broad.mit.edu	37	chr1	145457969	145457969	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggcattgtcaatcggaccTgacatctgatatttgtctga	9	8	3	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:145457969T>C	uc001enp.1	-	4	398	c.291A>G	c.(289-291)TCA>TCG	p.S97S	NBPF10_uc001emp.3_Intron	NM_032305	NP_115681	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	97											0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAATCGGACCTGACATCTGAT	0.483													C	145457969	T	C	145457969	2	2	75	1	0	0	0	0	0	0	0	1	12235	1567	55	3		3	POLR3GL	1	145457969	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	25194120	145457969	103792652	64	52275											
PIAS3	10401	broad.mit.edu	37	chr1	145578385	145578385	+	Frame_Shift_Del	DEL	C	C	-													aagcgtgaggtggacatgcaCccccctctgccccagcctgt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:145578384_145578384AC>A	uc001eoc.1	+	1	438	c.347_347AC>A	c.(346-348)cacfs	p.H116fs	PIAS3_uc010oyy.1_Frame_Shift_Del_p.H107fs|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	116	PINIT.|Pro-rich.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGGACATGCACCCCCCTCTG	0.627													-	145578385	C	-	145578385	7	5	75	1	0	1	0	1	0	0	0	0	11877	506	18	0	354	0	PIAS3	1	145578385	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	120416	145578385	103672236	65	52276											
PIAS3	10401	broad.mit.edu	37	chr1	145578465	145578465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctatggggagctcatccGgcccaccacccttggtatgg	12	13	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:145578465G>A	uc001eoc.1	+	2	519	c.428G>A	c.(427-429)CGG>CAG	p.R143Q	NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_Missense_Mutation_p.R134Q|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	143	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGCTCATCCGGCCCACCACC	0.542													A	145578465	G	A	145578465	3	1	75	1	0	0	0	0	1	0	0	0	11877	1116	39	1	434	1	PIAS3	1	145578465	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	80	145578465	103672156	66	52277											
PLEKHO1	51177	broad.mit.edu	37	chr1	150131249	150131249	+	Frame_Shift_Del	DEL	C	C	-													agacaaaggggccacctacaCcccccaggcacccaagaagt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:150131248_150131248AC>A	uc001ett.3	+	5	1038	c.760_760AC>A	c.(760-762)accfs	p.T254fs	PLEKHO1_uc001ets.3_Frame_Shift_Del_p.T71fs|PLEKHO1_uc001etu.3_Frame_Shift_Del_p.T82fs|PLEKHO1_uc021oyc.1_Frame_Shift_Del_p.T71fs	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA.	254	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCCACCTACACCCCCCAGGC	0.647													-	150131249	C	-	150131249	7	5	75	1	0	1	0	1	0	0	0	0	12084	507	18	0	783	0	PLEKHO1	1	150131249	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	4552784	150131249	99119372	67	52278											
ZNF687	57592	broad.mit.edu	37	chr1	151260126	151260126	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagccctgcctaaggctgaCgggcgggcagggctggggac	18	12	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:151260126C>T	uc001exq.2	+	2	1457	c.1359C>T	c.(1357-1359)GAC>GAT	p.D453D	ZNF687_uc001exp.1_Silent_p.D462D|ZNF687_uc009wmo.2_Silent_p.D453D|ZNF687_uc009wmp.2_Silent_p.D453D	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTAAGGCTGACGGGCGGGCAG	0.632													T	151260126	C	T	151260126	2	4	75	1	0	0	0	0	0	0	0	1	18089	535	19	1		1	ZNF687	1	151260126	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1128877	151260126	97990495	68	52279											
CGN	57530	broad.mit.edu	37	chr1	151503053	151503053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcgggcactggaggcacGcctagaggaggctcagcggg	18	11	1	1	rs149778114		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:151503053G>A	uc009wmw.2	+	13	2546	c.2402G>A	c.(2401-2403)CGC>CAC	p.R801H		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	795	Glu-rich.|Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGAGGCACGCCTAGAGGAG	0.687													A	151503053	G	A	151503053	3	1	75	1	0	0	0	0	1	0	0	0	3303	1087	38	1	2448	1	CGN	1	151503053	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	242927	151503053	97747568	69	52280											
TCHH	7062	broad.mit.edu	37	chr1	152083414	152083414	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcccggcgctgctcctctTcctgctgctgccggtgagcc	12	17	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:152083414T>C	uc001ezp.2	-	2	2279	c.2279A>G	c.(2278-2280)GAA>GGA	p.E760G	TCHH_uc009wne.1_Missense_Mutation_p.E760G	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	760					keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTCCTCTTCCTGCTGCTG	0.677													C	152083414	T	C	152083414	3	2	75	1	0	0	0	0	1	0	0	0	15697	1783	62	3	3556	3	TCHH	1	152083414	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	580361	152083414	97167207	70	52281											
TCHH	7062	broad.mit.edu	37	chr1	152083994	152083994	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcctgctcgcgcttcaGccgctgctctcgcctctcct	7	21	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:152083994G>A	uc001ezp.2	-	2	1699	c.1699C>T	c.(1699-1701)CTG>TTG	p.L567L	TCHH_uc009wne.1_Silent_p.L567L	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	567	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCGCGCTTCAGCCGCTGCTCT	0.662													A	152083994	G	A	152083994	2	1	75	1	0	0	0	0	0	0	0	1	15697	962	34	2		2	TCHH	1	152083994	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	580	152083994	97166627	71	52282											
RPTN	126638	broad.mit.edu	37	chr1	152128528	152128528	+	Frame_Shift_Del	DEL	T	T	-													tcataatgataacactggccTtttctgtccatttgaccata							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:152128527_152128527CT>C	uc001ezs.1	-	2	1113	c.1048_1048AG>G	c.(1048-1050)ggcfs	p.G350fs		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	350	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TAACACTGGCCTTTTCTGTCC	0.493													-	152128528	T	-	152128528	7	5	75	1	0	1	0	1	0	0	0	0	13664	1606	56	0	1311	0	RPTN	1	152128528	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	44534	152128528	97122093	72	52283											
FLG2	388698	broad.mit.edu	37	chr1	152325256	152325257	+	Frame_Shift_Ins	INS	-	-	TG													accatgagtgtgtcctgtatINSgtgtgtgtgagacccctgag							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:152325255_152325256A>ATG	uc001ezw.4	-	2	5079_5080	c.5006_5007T>CAT	c.(5005-5007)catfs	p.H1669fs	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1669							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGTCCTGTATGTGTGTGTGA	0.505													TG	152325257	-	TG	152325256	7	5	75	1	0	1	1	0	0	0	0	0	5923	1464	51	0	2173	0	FLG2	1	152325256	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	196728	152325256	96925365	73	52284											
LCE1E	353135	broad.mit.edu	37	chr1	152760047	152760047	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcccaccgtcacagaccccAgagctctgactgctgcagcc	9	18	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:152760047A>G	uc001fan.2	+	2	325	c.272A>G	c.(271-273)CAG>CGG	p.Q91R		NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	91	Cys-rich.				keratinization						0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACAGACCCCAGAGCTCTGAC	0.677													G	152760047	A	G	152760047	3	3	75	1	0	0	0	0	1	0	0	0	8663	188	7	3	274	3	LCE1E	1	152760047	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	434791	152760047	96490574	74	52285											
LCE1D	353134	broad.mit.edu	37	chr1	152770530	152770530	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcccaccgtcgcagaccccAgagctctgactgctgcagcc	10	18	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:152770530A>G	uc009wnp.2	+	2	303	c.260A>G	c.(259-261)CAG>CGG	p.Q87R		NM_178352	NP_848129	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	87	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm					0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCAGACCCCAGAGCTCTGAC	0.692													G	152770530	A	G	152770530	3	3	75	1	0	0	0	0	1	0	0	0	8662	188	7	3	262	3	LCE1D	1	152770530	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	10483	152770530	96480091	75	52286											
LOR	4014	broad.mit.edu	37	chr1	153234308	153234308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccgggagtggcaagggcGtcccgatctgccaccagacc	14	15	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:153234308G>A	uc001fbm.2	+	2	937	c.883G>A	c.(883-885)GTC>ATC	p.V295I		NM_000427	NP_000418	P23490	LORI_HUMAN	loricrin	295					keratinization|peptide cross-linking	cornified envelope|cytoplasm|insoluble fraction|nucleoplasm	protein binding, bridging|structural constituent of cytoskeleton				0	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGCAAGGGCGTCCCGATCTG	0.677													A	153234308	G	A	153234308	3	1	75	1	0	0	0	0	1	0	0	0	8897	1145	40	1	885	1	LOR	1	153234308	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	463778	153234308	96016313	76	52287											
MEX3A	92312	broad.mit.edu	37	chr1	156046867	156046868	+	Frame_Shift_Ins	INS	-	-	G													gccctgctcacccaggcgtgINSgggcctcaaagccagagtcc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:156046866_156046867T>TG	uc001fnd.4	-	1	1061_1062	c.1061_1062A>CA	c.(1060-1062)ccafs	p.P354fs		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	Homo sapiens mex-3 homolog A (C. elegans) (MEX3A), mRNA.	354						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CACCCAGGCGTGGGGCCTCAAA	0.668													G	156046868	-	G	156046867	7	5	75	1	0	1	1	0	0	0	0	0	9509	1348	47	0	505	0	MEX3A	1	156046867	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	2812559	156046867	93203754	77	52288											
SMG5	23381	broad.mit.edu	37	chr1	156228860	156228860	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagactgggcaatgctgacgAagatgccaacctctgggttg	13	10	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:156228860A>G	uc001foc.3	-	16	2527	c.2378T>C	c.(2377-2379)TTC>TCC	p.F793S	SMG5_uc009wrv.2_Missense_Mutation_p.F278S	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	793					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					AATGCTGACGAAGATGCCAAC	0.607													G	156228860	A	G	156228860	3	3	75	1	0	0	0	0	1	0	0	0	14796	246	9	3	700	3	SMG5	1	156228860	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	181993	156228860	93021761	78	52289											
HAPLN2	60484	broad.mit.edu	37	chr1	156594421	156594421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggtctggactggtgtaaCgcgggctggctgctcgaggg	20	8	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:156594421C>T	uc001fpn.1	+	6	992	c.585C>T	c.(583-585)AAC>AAT	p.N195N		NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN	brain link protein-1 precursor	195	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACTGGTGTAACGCGGGCTGGC	0.726													T	156594421	C	T	156594421	2	4	75	1	0	0	0	0	0	0	0	1	6955	535	19	1		1	HAPLN2	1	156594421	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	365561	156594421	92656200	79	52290											
NES	10763	broad.mit.edu	37	chr1	156641212	156641212	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggtactctccctttcccAggttctcttcctcttccaga	5	16	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:156641212A>G	uc001fpq.2	-	4	2901	c.2768T>C	c.(2767-2769)CTG>CCG	p.L923P		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	923	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCCTTTCCCAGGTTCTCTTC	0.522													G	156641212	A	G	156641212	3	3	75	1	0	0	0	0	1	0	0	0	10337	188	7	3	2101	3	NES	1	156641212	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	46791	156641212	92609409	80	52291											
NTRK1	4914	broad.mit.edu	37	chr1	156836706	156836706	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtctccacgcccgcaggaatCtctccttcaacgctctggag	9	16	4	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:156836706C>A	uc001fqh.1	+	4	420	c.364C>A	c.(364-366)CTC>ATC	p.L122I	NTRK1_uc001fqf.1_Missense_Mutation_p.L92I|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Missense_Mutation_p.L122I|NTRK1_uc009wsk.1_Missense_Mutation_p.L122I	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	122	LRR 2.|Extracellular (Potential).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CCGCAGGAATCTCTCCTTCAA	0.577			T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)			A	156836706	C	A	156836706	3	1	75	1	0	0	0	0	1	0	0	0	10706	913	32	5	508	5	NTRK1	1	156836706	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	195494	156836706	92413915	81	52292											
ARHGEF11	9826	broad.mit.edu	37	chr1	156909362	156909362	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctcacaactttgtaaccTcctgctgcctctgtgcttga	6	13	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:156909362T>C	uc001fqo.2	-	36	4994	c.3954A>G	c.(3952-3954)GGA>GGG	p.G1318G	ARHGEF11_uc010phu.1_Silent_p.G734G|ARHGEF11_uc001fqn.2_Silent_p.G1358G	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1318					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTTTGTAACCTCCTGCTGCCT	0.493													C	156909362	T	C	156909362	2	2	75	1	0	0	0	0	0	0	0	1	896	1538	54	3		3	ARHGEF11	1	156909362	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	72656	156909362	92341259	82	52293											
CD1A	909	broad.mit.edu	37	chr1	158225973	158225973	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcaaagtgctcaatcagaatCagcatgaaaatgacataaca	7	8	3	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:158225973C>T	uc001frt.2	+	3	1038	c.505C>T	c.(505-507)CAG>TAG	p.Q169*		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	169	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CAATCAGAATCAGCATGAAAA	0.463													T	158225973	C	T	158225973	4	4	75	1	0	0	0	0	0	1	0	0	2974	827	29	4	515	4	CD1A	1	158225973	Nonsense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1316611	158225973	91024648	83	52294											
SPTA1	6708	broad.mit.edu	37	chr1	158609667	158609667	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggtgcaattacctctgagAgccagaactcaaagtcccgg	11	12	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:158609667A>G	uc001fst.1	-	34	5067	c.4868T>C	c.(4867-4869)CTC>CCC	p.L1623P		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1623	Spectrin 16.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TACCTCTGAGAGCCAGAACTC	0.433													G	158609667	A	G	158609667	3	3	75	1	0	0	0	0	1	0	0	0	15115	304	11	3	2467	3	SPTA1	1	158609667	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	383694	158609667	90640954	84	52295											
SPTA1	6708	broad.mit.edu	37	chr1	158641957	158641957	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcccacagttccagcagGgcagtccagttgttgtcaag	11	12	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:158641957G>A	uc001fst.1	-	11	1579	c.1380C>T	c.(1378-1380)GCC>GCT	p.A460A		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	460	Spectrin 5.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GTTCCAGCAGGGCAGTCCAGT	0.383													A	158641957	G	A	158641957	2	1	75	1	0	0	0	0	0	0	0	1	15115	1219	43	4		4	SPTA1	1	158641957	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	32290	158641957	90608664	85	52296											
IFI16	3428	broad.mit.edu	37	chr1	159019381	159019381	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caacaccaagcagcagtttcTtaaccacggtacaagttccc	6	14	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:159019381T>G	uc001ftg.2	+	8	1779	c.1489T>G	c.(1489-1491)TTA>GTA	p.L497V	IFI16_uc010pis.1_Missense_Mutation_p.L497V|IFI16_uc001fth.2_Intron|IFI16_uc010pit.1_Intron	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	497					cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)					CAGCAGTTTCTTAACCACGGT	0.498													G	159019381	T	G	159019381	3	3	75	1	0	0	0	0	1	0	0	0	7511	1606	56	5	1515	5	IFI16	1	159019381	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	377424	159019381	90231240	86	52297											
OR10J5	127385	broad.mit.edu	37	chr1	159505639	159505639	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacatgggagtgtggagatgAtggtcaatgcagatgatagt	15	3	1	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:159505639A>G	uc010piw.1	-	1	159	c.159T>C	c.(157-159)CAT>CAC	p.H53H		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_hematologic(112;0.0429)					TGTGGAGATGATGGTCAATGC	0.423													G	159505639	A	G	159505639	2	3	75	1	0	0	0	0	0	0	0	1	10912	330	12	3		3	OR10J5	1	159505639	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	486258	159505639	89744982	87	52298											
COPA	1314	broad.mit.edu	37	chr1	160269047	160269047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagagttcgaatgatccCgtggtccctaagaacagagg	11	10	0	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:160269047C>T	uc009wti.2	-	18	2069	c.1675G>A	c.(1675-1677)GGG>AGG	p.G559R	COPA_uc001fvv.3_Missense_Mutation_p.G568R	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	559					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGAATGATCCCGTGGTCCCTA	0.488													T	160269047	C	T	160269047	3	4	75	1	0	0	0	0	1	0	0	0	3727	652	23	1	2063	1	COPA	1	160269047	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	763408	160269047	88981574	88	52299											
VANGL2	57216	broad.mit.edu	37	chr1	160385899	160385899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcgagatgggggccgagGggacaagtcggtgacaatcc	18	8	0	2	rs141931627	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:160385899G>A	uc001fwb.1	+	4	418	c.119G>A	c.(118-120)GGG>GAG	p.G40E	VANGL2_uc001fwc.1_Missense_Mutation_p.G40E	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	40	Cytoplasmic (Potential).				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGGGCCGAGGGGACAAGTCG	0.647													A	160385899	G	A	160385899	3	1	75	1	0	0	0	0	1	0	0	0	17117	1232	43	4	125	4	VANGL2	1	160385899	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	116852	160385899	88864722	89	52300											
VANGL2	57216	broad.mit.edu	37	chr1	160389203	160389203	+	Frame_Shift_Del	DEL	G	G	-													cctactggctcttctatggtGtgcgcatcctggatgctcgg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:160389202_160389202TG>T	uc001fwb.2	+	4	902	c.603_603TG>T	c.(601-603)ggtfs	p.G201fs	VANGL2_uc001fwc.2_Frame_Shift_Del_p.G201fs	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA.	201					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTTCTATGGTGTGCGCATCC	0.642													-	160389203	G	-	160389203	7	5	75	1	0	1	0	1	0	0	0	0	17117	1377	48	0	614	0	VANGL2	1	160389203	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	3304	160389203	88861418	90	52301											
FAM78B	149297	broad.mit.edu	37	chr1	166039513	166039513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaaccagaggtggcccccGcttgggcctccacatgagga	12	15	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:166039513G>A	uc001gdr.2	-	3	1341	c.751C>T	c.(751-753)CGG>TGG	p.R251W	FAM78B_uc010plc.1_RNA|FAM78B_uc001gdq.2_RNA	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	hypothetical protein LOC149297	251										central_nervous_system(1)|skin(1)	2	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					GGTGGCCCCCGCTTGGGCCTC	0.602													A	166039513	G	A	166039513	3	1	75	1	0	0	0	0	1	0	0	0	5627	1086	38	1	38	1	FAM78B	1	166039513	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	5650310	166039513	83211108	91	52302											
RABGAP1L	9910	broad.mit.edu	37	chr1	174652732	174652732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgctgtattactgctgCatgtaagtaatggtccgtgt	11	7	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:174652732C>T	uc001gjx.2	+	15	2092	c.1897C>T	c.(1897-1899)CAT>TAT	p.H633Y		NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	633	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4						ATTACTGCTGCATGTAAGTAA	0.383													T	174652732	C	T	174652732	3	4	75	1	0	0	0	0	1	0	0	0	12965	710	25	2	1951	2	RABGAP1L	1	174652732	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	8613219	174652732	74597889	92	52303											
TNR	7143	broad.mit.edu	37	chr1	175306814	175306814	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgagggaacacccggccTcctgcaaggaaaatagacaa	12	10	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:175306814T>C	uc001gkp.1	-	17	3465	c.3384A>G	c.(3382-3384)GGA>GGG	p.G1128G	TNR_uc009wwu.1_Silent_p.G1128G	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1128					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					ACACCCGGCCTCCTGCAAGGA	0.507													C	175306814	T	C	175306814	2	2	75	1	0	0	0	0	0	0	0	1	16335	1565	54	3		3	TNR	1	175306814	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	654082	175306814	73943807	93	52304											
FAM5B	57795	broad.mit.edu	37	chr1	177245458	177245458	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgctggtgcaagtgcagCcccaccttccctgaatgcaa	10	14	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:177245458C>T	uc001glf.2	+	6	1212	c.900C>T	c.(898-900)AGC>AGT	p.S300S	FAM5B_uc010pna.1_Silent_p.S50S|FAM5B_uc001glg.2_Silent_p.S195S	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	300						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						GCAAGTGCAGCCCCACCTTCC	0.582													T	177245458	C	T	177245458	2	4	75	1	0	0	0	0	0	0	0	1	5593	738	26	2		2	FAM5B	1	177245458	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1938644	177245458	72005163	94	52305											
RALGPS2	55103	broad.mit.edu	37	chr1	178854298	178854298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagacaccgccatcccctcGgaatctgattccacatggac	7	16	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:178854298G>A	uc001glz.2	+	12	1330	c.992G>A	c.(991-993)CGG>CAG	p.R331Q	RALGPS2_uc010pnb.1_Missense_Mutation_p.R331Q	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	331					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding				0						CCATCCCCTCGGAATCTGATT	0.428													A	178854298	G	A	178854298	3	1	75	1	0	0	0	0	1	0	0	0	13018	1116	39	1	1034	1	RALGPS2	1	178854298	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1608840	178854298	70396323	95	52306											
CEP350	9857	broad.mit.edu	37	chr1	179982981	179982981	+	Splice_Site	DEL	G	G	-													ctaacagttcatactttgcaGggggtcacattggaagagca							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:179982980_179982980AG>A	uc001gnt.3	+	10	1777	c.1394_splice	c.e10-2	p.G465_splice	CEP350_uc009wxl.2_Splice_Site_p.G464_splice|CEP350_uc001gnu.3_Splice_Site_p.G299_splice	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	465						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CATACTTTGCAGGGGGTCACA	0.358													-	179982981	G	-	179982981	8	5	75	1	0	1	0	1	0	0	1	0	3254	1014	35	0	1427	0	CEP350	1	179982981	Splice_Site	DEL	G	TCGA-BR-8363-01A-11D-2340-08	1128683	179982981	69267640	96	52307											
DHX9	1660	broad.mit.edu	37	chr1	182856514	182856515	+	Frame_Shift_Ins	INS	-	-	G													ttccagcgaggaggtggtagINSgggggcctatggaactggct							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:182856513_182856514A>AG	uc001gpr.3	+	27	3932_3933	c.3757_3758A>AG	c.(3757-3759)aggfs	p.R1253fs	DHX9_uc001gps.3_Frame_Shift_Ins_p.R1039fs|DHX9_uc001gpt.3_Frame_Shift_Ins_p.R532fs|DHX9_uc009wyd.3_Frame_Shift_Ins_p.R218fs	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	1253	NTD.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGGAGGTGGTAGGGGGGCCTAT	0.525													G	182856515	-	G	182856514	7	5	75	1	0	1	1	0	0	0	0	0	4516	1000	35	0	3864	0	DHX9	1	182856514	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	2873533	182856514	66394107	97	52308											
LAMC1	3915	broad.mit.edu	37	chr1	183086469	183086469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagatgaggatgggtggCgtgcggaacagagagatggc	19	6	0	4	rs141665938	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:183086469C>T	uc001gpy.3	+	9	1836	c.1579C>T	c.(1579-1581)CGT>TGT	p.R527C		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	527	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGATGGGTGGCGTGCGGAACA	0.463													T	183086469	C	T	183086469	3	4	75	1	0	0	0	0	1	0	0	0	8614	768	27	1	1613	1	LAMC1	1	183086469	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	229955	183086469	66164152	98	52309											
HMCN1	83872	broad.mit.edu	37	chr1	186022123	186022123	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgatgaacttactcaacTtacagtcattgaagggaatc	7	8	3	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:186022123T>G	uc001grq.1	+	43	6846	c.6617T>G	c.(6616-6618)CTT>CGT	p.L2206R		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2206	Ig-like C2-type 20.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CTTACTCAACTTACAGTCATT	0.353													G	186022123	T	G	186022123	3	3	75	1	0	0	0	0	1	0	0	0	7220	1609	56	5	6787	5	HMCN1	1	186022123	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	2935654	186022123	63228498	99	52310											
FAM5C	339479	broad.mit.edu	37	chr1	190129952	190129952	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attagaatccattgtccacaAatgcattatagtagatgtgt	7	6	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:190129952A>G	uc001gse.1	-	7	1262	c.1030T>C	c.(1030-1032)TTG>CTG	p.L344L	FAM5C_uc010pot.1_Silent_p.L242L	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	344						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					ATTGTCCACAAATGCATTATA	0.323													G	190129952	A	G	190129952	2	3	75	1	0	0	0	0	0	0	0	1	5594	11	1	3		3	FAM5C	1	190129952	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	4107829	190129952	59120669	100	52311											
ZBTB41	360023	broad.mit.edu	37	chr1	197145703	197145703	+	Frame_Shift_Del	DEL	T	T	-													atatggtatacctgaatgtaTttttttgtgctttgtaaggt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:197145702_197145702AT>A	uc001gtx.1	-	6	1940	c.1871_1871AT>T	c.(1870-1872)atafs	p.I624fs	ZBTB41_uc009wyz.1_Non-coding_Transcript	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	Homo sapiens zinc finger and BTB domain containing 41 (ZBTB41), mRNA.	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K623E(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						ACCTGAATGTATTTTTTTGTG	0.308													-	197145703	T	-	197145703	7	5	75	1	0	1	0	1	0	0	0	0	17540	1493	52	0	875	0	ZBTB41	1	197145703	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	7015751	197145703	52104918	101	52312											
CRB1	23418	broad.mit.edu	37	chr1	197404311	197404312	+	Frame_Shift_Del	DEL	TC	TC	-													atagaaatcggaggcatttaTctctcttactttgaaaatgt					rs115649214	by1000genomes	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:197404310_197404311ATC>A	uc001gtz.3	+	8	3526_3527	c.3317_3318ATC>A	c.(3316-3318)tatfs	p.Y1106fs	CRB1_uc010poz.2_Frame_Shift_Del_p.Y1082fs|CRB1_uc009wza.3_Frame_Shift_Del_p.Y994fs|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Frame_Shift_Del_p.Y587fs|CRB1_uc001gub.1_Frame_Shift_Del_p.Y755fs	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1106	Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GGAGGCATTTATCTCTCTTACT	0.366													-	197404312	TC	-	197404311	7	5	75	1	0	1	0	1	0	0	0	0	3848	1442	50	0	3352	0	CRB1	1	197404311	Frame_Shift_Del	DEL	TC	TCGA-BR-8363-01A-11D-2340-08	258608	197404311	51846310	102	52313											
LHX9	56956	broad.mit.edu	37	chr1	197890647	197890647	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcaaggagagtatccaccGcagctgagctacacggagct	12	11	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:197890647G>A	uc001guk.1	+	3	1028	c.591G>A	c.(589-591)CCG>CCA	p.P197P	LHX9_uc001gui.1_Silent_p.P188P|LHX9_uc001guj.1_Silent_p.P203P	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	197					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						AGTATCCACCGCAGCTGAGCT	0.642													A	197890647	G	A	197890647	2	1	75	1	0	0	0	0	0	0	0	1	8777	1074	38	1		1	LHX9	1	197890647	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	486336	197890647	51359974	103	52314											
PPP1R12B	4660	broad.mit.edu	37	chr1	202532034	202532034	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgtagaagaagacagcaAcagagattataaaaaagtag	10	5	0	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:202532034A>G	uc001gya.1	+	20	2780	c.2636A>G	c.(2635-2637)AAC>AGC	p.N879S	PPP1R12B_uc001gxz.1_Missense_Mutation_p.N879S|PPP1R12B_uc001gyb.1_Missense_Mutation_p.N105S|PPP1R12B_uc001gyc.1_Missense_Mutation_p.N105S	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	879					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAAGACAGCAACAGAGATTAT	0.512													G	202532034	A	G	202532034	3	3	75	1	0	0	0	0	1	0	0	0	12355	43	2	3	2804	3	PPP1R12B	1	202532034	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	4641387	202532034	46718587	104	52315											
KDM5B	10765	broad.mit.edu	37	chr1	202699003	202699003	+	Frame_Shift_Del	DEL	G	G	-													ttgaaattgttcatgtccttGgggtggctcagtttgatttt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:202699002_202699002TG>T	uc009xag.3	-	26	4554	c.4438_4438CA>A	c.(4438-4440)aagfs	p.K1480fs	KDM5B_uc001gyf.3_Frame_Shift_Del_p.K1444fs|KDM5B_uc001gyg.1_Frame_Shift_Del_p.K1286fs	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1444					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTCATGTCCTTGGGGTGGCTC	0.478													-	202699003	G	-	202699003	7	5	75	1	0	1	0	1	0	0	0	0	8134	1335	47	0	313	0	KDM5B	1	202699003	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	166969	202699003	46551618	105	52316											
ATP2B4	493	broad.mit.edu	37	chr1	203668687	203668687	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtgatcatcgtggtgtTagtgactgcctttaatgatt	10	7	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:203668687T>A	uc001gzw.2	+	4	1375	c.491T>A	c.(490-492)TTA>TAA	p.L164*	ATP2B4_uc001gzv.2_Nonsense_Mutation_p.L164*|ATP2B4_uc009xaq.2_Nonsense_Mutation_p.L164*	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	164	Helical; (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATCGTGGTGTTAGTGACTGCC	0.502													A	203668687	T	A	203668687	4	1	75	1	0	0	0	0	0	1	0	0	1142	1764	61	5	501	5	ATP2B4	1	203668687	Nonsense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	969684	203668687	45581934	106	52317											
PLEKHA6	22874	broad.mit.edu	37	chr1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-													aaggtcttcaggcgggggtaCcccccggcgcagattcaccc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:204228410_204228410AC>A	uc001hau.3	-	7	1300	c.983_983GT>T	c.(982-984)gtafs	p.V328fs	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	328	Pro-rich.							p.V328fs*172(3)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			AGGCGGGGGTACCCCCCGGCG	0.627													-	204228411	C	-	204228411	7	5	75	1	0	1	0	1	0	0	0	0	12060	507	18	0	2224	0	PLEKHA6	1	204228411	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	559724	204228411	45022210	107	52318											
MAPKAPK2	9261	broad.mit.edu	37	chr1	206858688	206858688	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccggcgcagccgccgccgccGcccccgcagcagttcccgca	12	23	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:206858688G>C	uc001hem.1	+	1	400	c.114G>C	c.(112-114)CCG>CCC	p.P38P	MAPKAPK2_uc001hel.1_Silent_p.P38P	NM_032960	NP_116584	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated	38	Pro-rich.|Poly-Pro.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			cgccgccgccgcccccgcagc	0.284													C	206858688	G	C	206858688	2	2	75	1	0	0	0	0	0	0	0	1	9289	1074	38	5		5	MAPKAPK2	1	206858688	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2630277	206858688	42391933	108	52319											
CR1	1378	broad.mit.edu	37	chr1	207696973	207696973	+	Frame_Shift_Del	DEL	C	C	-													caggaattccttgtgggctaCcccccaccatcaccaatgga							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:207696972_207696972AC>A	uc001hfy.3	+	4	644	c.504_504AC>A	c.(502-504)ctafs	p.L168fs	CR1_uc009xcl.1_Frame_Shift_Del_p.L168fs|CR1_uc001hfx.3_Frame_Shift_Del_p.L168fs|CR1_uc021pij.1_Frame_Shift_Del_p.L168fs|CR1_uc009xcj.1_Frame_Shift_Del_p.L168fs|CR1_uc009xck.1_Frame_Shift_Del_p.L168fs	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	168	Sushi 3.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTGTGGGCTACCCCCCACCA	0.428													-	207696973	C	-	207696973	7	5	75	1	0	1	0	1	0	0	0	0	3840	507	18	0	523	0	CR1	1	207696973	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	838285	207696973	41553648	109	52320											
CR1L	1379	broad.mit.edu	37	chr1	207851614	207851614	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagacatccagttcagaTcccaaattaaatattcttgt	4	9	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:207851614T>A	uc001hga.3	+	3	470	c.349T>A	c.(349-351)TCC>ACC	p.S117T	CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	117	Sushi 2.					cytoplasm|extracellular region|membrane					0						CCAGTTCAGATCCCAAATTAA	0.413													A	207851614	T	A	207851614	3	1	75	1	0	0	0	0	1	0	0	0	3841	1435	50	5	359	5	CR1L	1	207851614	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	154641	207851614	41399007	110	52321											
IRF6	3664	broad.mit.edu	37	chr1	209961801	209961801	+	Frame_Shift_Del	DEL	G	G	-													gcagggggcagttgcatgctGggggtgggctgcatgggctg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:209961800_209961800TG>T	uc001hhq.2	-	8	1673	c.1369_1369CA>A	c.(1369-1371)agcfs	p.S457fs	IRF6_uc010psm.2_Frame_Shift_Del_p.S362fs	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	457					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AGTTGCATGCTGGGGGTGGGC	0.483										HNSCC(57;0.16)			-	209961801	G	-	209961801	7	5	75	1	0	1	0	1	0	0	0	0	7834	1335	47	0	39	0	IRF6	1	209961801	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	2110187	209961801	39288820	111	52322											
SYT14	255928	broad.mit.edu	37	chr1	210273768	210273768	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaatcttcaagggaaaatgTcattgcctgtgatattggaa	10	5	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:210273768T>C	uc009xcv.2	+	6	1198	c.1126T>C	c.(1126-1128)TCA>CCA	p.S376P	SYT14_uc001hhs.3_Missense_Mutation_p.S421P|SYT14_uc001hht.3_Missense_Mutation_p.S376P|SYT14_uc001hhu.3_Intron|SYT14_uc010psn.1_Missense_Mutation_p.S421P|SYT14_uc010pso.1_Missense_Mutation_p.S338P	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN	synaptotagmin XIV isoform 4	376	Cytoplasmic (Potential).|C2 1.					integral to membrane				ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AGGGAAAATGTCATTGCCTGT	0.333													C	210273768	T	C	210273768	3	2	75	1	0	0	0	0	1	0	0	0	15467	1667	58	3	1287	3	SYT14	1	210273768	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	311967	210273768	38976853	112	52323											
RCOR3	55758	broad.mit.edu	37	chr1	211451507	211451507	+	Frame_Shift_Del	DEL	A	A	-													taaaatattactattcttggAaaaaaactcgctctaggaca							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:211451506_211451506GA>G	uc010psw.2	+	5	759	c.564_564GA>G	c.(562-564)tggfs	p.W188fs	RCOR3_uc010psv.1_Non-coding_Transcript|RCOR3_uc001hie.3_Frame_Shift_Del_p.W188fs|RCOR3_uc001hif.3_Frame_Shift_Del_p.W188fs|RCOR3_uc001hig.3_Frame_Shift_Del_p.W130fs	NM_001136223	NP_060724	Q9P2K3	RCOR3_HUMAN	Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA.	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.T133fs*4(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		ACTATTCTTGGAAAAAAACTC	0.338													-	211451507	A	-	211451507	7	5	75	1	0	1	0	1	0	0	0	0	13184	247	9	0	587	0	RCOR3	1	211451507	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	1177739	211451507	37799114	113	52324											
EPRS	2058	broad.mit.edu	37	chr1	220205738	220205738	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggcttaccactcgagcTttggttgttgaaacatccca	8	10	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:220205738T>G	uc001hly.1	-	5	789	c.519A>C	c.(517-519)AAA>AAC	p.K173N	EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Missense_Mutation_p.K173N|EPRS_uc009xdt.1_Missense_Mutation_p.K6T	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	173	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CCACTCGAGCTTTGGTTGTTG	0.284													G	220205738	T	G	220205738	3	3	75	1	0	0	0	0	1	0	0	0	5191	1606	56	5	4131	5	EPRS	1	220205738	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	8754231	220205738	29044883	114	52325											
BPNT1	10380	broad.mit.edu	37	chr1	220253146	220253146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttgagcaatagaatatgCggaggctaccaaccgcatca	9	10	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:220253146C>T	uc001hma.2	-	2	215	c.43G>A	c.(43-45)GCA>ACA	p.A15T	BPNT1_uc010pug.1_Intron|BPNT1_uc010puh.1_Missense_Mutation_p.A15T|BPNT1_uc001hmb.3_Missense_Mutation_p.A15T	NM_006085	NP_006076	O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	15					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0558)		ATAGAATATGCGGAGGCTACC	0.413													T	220253146	C	T	220253146	3	4	75	1	0	0	0	0	1	0	0	0	1494	768	27	1	915	1	BPNT1	1	220253146	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	47408	220253146	28997475	115	52326											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220324662	220324662	+	Frame_Shift_Del	DEL	T	T	-													gctagaccatattgcccatgTttttctggtaaaagctcaat							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:220324661_220324661GT>G	uc010puk.1	-	34	4278	c.4114_4114AC>C	c.(4114-4116)catfs	p.H1372fs	RAB3GAP2_uc021pjf.1_Frame_Shift_Del_p.H1372fs|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Frame_Shift_Del_p.H952fs	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	1372					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TATTGCCCATGTTTTTCTGGT	0.398													-	220324662	T	-	220324662	7	5	75	1	0	1	0	1	0	0	0	0	12936	1722	60	0	72	0	RAB3GAP2	1	220324662	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	71516	220324662	28925959	116	52327											
DUSP10	11221	broad.mit.edu	37	chr1	221912436	221912436	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtccttgccttccctacaGgaaatcaagtctaggacagt	9	11	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:221912436G>T	uc001hmy.1	-	2	833	c.651C>A	c.(649-651)TCC>TCA	p.S217S	DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	217	Rhodanese.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)		CTTCCCTACAGGAAATCAAGT	0.473													T	221912436	G	T	221912436	2	4	75	1	0	0	0	0	0	0	0	1	4810	987	35	5		5	DUSP10	1	221912436	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1587774	221912436	27338185	117	52328											
TAF1A	9015	broad.mit.edu	37	chr1	222732052	222732052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcacagatctcttcatccGcttaattttcttccctaaga	3	12	4	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:222732052G>A	uc009xdz.1	-	11	1492	c.1303C>T	c.(1303-1305)CGG>TGG	p.R435W	TAF1A_uc009xdy.1_Missense_Mutation_p.R126W|TAF1A_uc001hni.1_Missense_Mutation_p.R321W|TAF1A_uc001hnj.2_Missense_Mutation_p.R435W|TAF1A_uc001hnk.2_Missense_Mutation_p.R321W	NM_139352	NP_647603	Q15573	TAF1A_HUMAN	TBP-associated factor 1A isoform 2	435					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding				0				GBM - Glioblastoma multiforme(131;0.0186)		CTCTTCATCCGCTTAATTTTC	0.303													A	222732052	G	A	222732052	3	1	75	1	0	0	0	0	1	0	0	0	15516	1086	38	1	53	1	TAF1A	1	222732052	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	819616	222732052	26518569	118	52329											
C1orf65	164127	broad.mit.edu	37	chr1	223568232	223568232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaggaaggagcggcaacGcgagctgagggagaaggccc	18	10	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:223568232G>A	uc001hoa.2	+	1	1518	c.1415G>A	c.(1414-1416)CGC>CAC	p.R472H		NM_152610	NP_689823	Q8N715	CA065_HUMAN	hypothetical protein LOC164127	472	Potential.									central_nervous_system(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0704)		GAGCGGCAACGCGAGCTGAGG	0.602													A	223568232	G	A	223568232	3	1	75	1	0	0	0	0	1	0	0	0	2055	1087	38	1	1417	1	C1orf65	1	223568232	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	836180	223568232	25682389	119	52330											
LEFTY2	7044	broad.mit.edu	37	chr1	226125159	226125159	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctatggctggagcctcctTggcacgagcgccccatccga	12	16	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:226125159T>C	uc001hpt.1	-	4	1163	c.1083A>G	c.(1081-1083)CCA>CCG	p.P361P	LEFTY2_uc010pvk.1_Silent_p.P327P|LEFTY2_uc009xek.1_3'UTR	NM_003240	NP_003231	O00292	LFTY2_HUMAN	endometrial bleeding associated factor	361					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding				0	Breast(184;0.197)					GGAGCCTCCTTGGCACGAGCG	0.567													C	226125159	T	C	226125159	2	2	75	1	0	0	0	0	0	0	0	1	8716	1799	63	3		3	LEFTY2	1	226125159	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	2556927	226125159	23125462	120	52331											
GUK1	2987	broad.mit.edu	37	chr1	228334618	228334618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcgagcatgccgagttctCggggaacctgtatggcacga	13	11	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:228334618C>T	uc001hsh.2	+	5	533	c.230C>T	c.(229-231)TCG>TTG	p.S77L	GUK1_uc001hsi.2_Missense_Mutation_p.S98L|GUK1_uc001hsj.2_Missense_Mutation_p.S17L|GUK1_uc010pvv.1_Missense_Mutation_p.S77L|GJC2_uc001hsk.2_5'Flank	NM_000858	NP_000849	Q16774	KGUA_HUMAN	guanylate kinase 1 isoform b	77	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity				0		Prostate(94;0.0405)				GCCGAGTTCTCGGGGAACCTG	0.612													T	228334618	C	T	228334618	3	4	75	1	0	0	0	0	1	0	0	0	6900	893	31	1	307	1	GUK1	1	228334618	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2209459	228334618	20916003	121	52332											
OBSCN	84033	broad.mit.edu	37	chr1	228528510	228528510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtctgccctgccacagcGcgctgagaacaagctgcacg	13	14	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:228528510G>A	uc009xez.1	+	72	17662	c.17618G>A	c.(17617-17619)CGC>CAC	p.R5873H	OBSCN_uc001hsn.2_Missense_Mutation_p.R5873H|OBSCN_uc001hsr.1_Missense_Mutation_p.R502H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5873	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CTGCCACAGCGCGCTGAGAAC	0.687													A	228528510	G	A	228528510	3	1	75	1	0	0	0	0	1	0	0	0	10812	1087	38	1	17900	1	OBSCN	1	228528510	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	193892	228528510	20722111	122	52333											
URB2	9816	broad.mit.edu	37	chr1	229772442	229772442	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaactagtttccggtctgaAggagccatccaaagtttgag	10	9	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:229772442A>G	uc001hts.1	+	4	2218	c.2082A>G	c.(2080-2082)GAA>GAG	p.E694E	URB2_uc009xfd.1_Silent_p.E694E	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	694						nucleolus				central_nervous_system(2)|ovary(1)	3						TCCGGTCTGAAGGAGCCATCC	0.448													G	229772442	A	G	229772442	2	3	75	1	0	0	0	0	0	0	0	1	17022	69	3	3		3	URB2	1	229772442	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1243932	229772442	19478179	123	52334											
DISC1	27185	broad.mit.edu	37	chr1	231954090	231954090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaggaaaccatttctggaCggctaaagacctcaccgagg	11	10	2	1	rs148111679	by1000genomes	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:231954090C>T	uc001huz.2	+	9	1861	c.1808C>T	c.(1807-1809)ACG>ATG	p.T603M	TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.T592M|TSNAX-DISC1_uc010pwh.1_Missense_Mutation_p.T558M|TSNAX-DISC1_uc010pwi.1_Missense_Mutation_p.T558M|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.T592M|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.R558W|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwr.1_Missense_Mutation_p.T603M|DISC1_uc010pws.1_Missense_Mutation_p.R569W|DISC1_uc010pwt.1_Silent_p.D550D|DISC1_uc010pwu.1_Silent_p.D200D|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.T603M|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.T603M|DISC1_uc010pxb.1_Missense_Mutation_p.T603M|DISC1_uc010pxc.1_Intron|DISC1_uc010pxd.1_Missense_Mutation_p.T248M|DISC1_uc010pxe.1_Missense_Mutation_p.T603M|DISC1_uc009xfr.2_Missense_Mutation_p.T558M|DISC1_uc010pxf.1_Missense_Mutation_p.T603M|DISC1_uc010pxg.1_Intron|DISC1_uc010pxh.1_Missense_Mutation_p.T635M|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Missense_Mutation_p.T248M|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.T481M|DISC1_uc010pxn.1_Missense_Mutation_p.T248M|DISC1_uc001hva.2_Missense_Mutation_p.T603M|DISC2_uc001hvd.2_RNA	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	603	Potential.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with TRAF3IP1.|Interaction with ATF4 and ATF5.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)				CATTTCTGGACGGCTAAAGAC	0.478													T	231954090	C	T	231954090	3	4	75	1	0	0	0	0	1	0	0	0	4538	536	19	1	2215	1	DISC1	1	231954090	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2181648	231954090	17296531	124	52335											
LYST	1130	broad.mit.edu	37	chr1	235884191	235884191	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgagtatattgtggtaTacatcatcacgaacctaaaa	7	6	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:235884191T>C	uc001hxj.2	-	40	9505	c.9330A>G	c.(9328-9330)GTA>GTG	p.V3110V	LYST_uc001hxi.2_Silent_p.V334V	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3110					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TATTGTGGTATACATCATCAC	0.348									Chediak-Higashi_syndrome				C	235884191	T	C	235884191	2	2	75	1	0	0	0	0	0	0	0	1	9128	1393	49	3		3	LYST	1	235884191	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	3930101	235884191	13366430	125	52336											
MTR	4548	broad.mit.edu	37	chr1	237026853	237026853	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttggctgcaataatttcCggtaagttaggacctcacct	8	11	1	0	rs138695265		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:237026853C>T	uc001hyi.3	+	22	2827	c.2404C>T	c.(2404-2406)CGA>TGA	p.R802*	MTR_uc010pxw.1_Nonsense_Mutation_p.R395*|MTR_uc010pxx.1_Nonsense_Mutation_p.R751*|MTR_uc010pxy.1_Nonsense_Mutation_p.R656*	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	802	B12-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CAATAATTTCCGGTAAGTTAG	0.468													T	237026853	C	T	237026853	4	4	75	1	0	0	0	0	0	1	0	0	9958	666	23	1	2490	1	MTR	1	237026853	Nonsense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1142662	237026853	12223768	126	52337											
RYR2	6262	broad.mit.edu	37	chr1	237957207	237957207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagaaaaggaagtggcacGgaaattggaatttgatgggc	16	4	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:237957207G>A	uc001hyl.1	+	95	13943	c.13823G>A	c.(13822-13824)CGG>CAG	p.R4608Q	RYR2_uc010pyb.1_Missense_Mutation_p.R41Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4608					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAGTGGCACGGAAATTGGAA	0.358													A	237957207	G	A	237957207	3	1	75	1	0	0	0	0	1	0	0	0	13769	1116	39	1	14201	1	RYR2	1	237957207	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	930354	237957207	11293414	127	52338											
FMN2	56776	broad.mit.edu	37	chr1	240370469	240370469	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaagttctgttcagagatttCtttgattgtgtctccaaggc	9	7	4	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:240370469C>A	uc010pyd.1	+	5	2582	c.2357C>A	c.(2356-2358)TCT>TAT	p.S786Y	FMN2_uc010pye.1_Missense_Mutation_p.S790Y	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	786	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCAGAGATTTCTTTGATTGTG	0.572													A	240370469	C	A	240370469	3	1	75	1	0	0	0	0	1	0	0	0	5950	913	32	5	2375	5	FMN2	1	240370469	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2413262	240370469	8880152	128	52339											
FMN2	56776	broad.mit.edu	37	chr1	240371913	240371913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatttcttcctcctccattGccaagtggcttgtttggatt	9	10	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:240371913G>A	uc010pyd.1	+	5	4026	c.3801G>A	c.(3799-3801)TTG>TTA	p.L1267L	FMN2_uc010pye.1_Silent_p.L1271L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1267	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCCTCCATTGCCAAGTGGCT	0.532													A	240371913	G	A	240371913	2	1	75	1	0	0	0	0	0	0	0	1	5950	1310	46	2		2	FMN2	1	240371913	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1444	240371913	8878708	129	52340											
FH	2271	broad.mit.edu	37	chr1	241667467	241667467	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgcaggcagtagtgttcAtggctccactgagctcaacc	11	12	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:241667467A>G	uc001hyx.2	-	7	1015	c.983T>C	c.(982-984)ATG>ACG	p.M328T		NM_000143	NP_000134	P07954	FUMH_HUMAN	fumarate hydratase precursor	328			M -> R (in HLRCC).		fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			lung(3)|ovary(1)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		AGTAGTGTTCATGGCTCCACT	0.438			Mis|N|F			lieomyomatosis|renal			Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer				G	241667467	A	G	241667467	3	3	75	1	0	0	0	0	1	0	0	0	5875	217	8	3	565	3	FH	1	241667467	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1295554	241667467	7583154	130	52341											
SDCCAG8	10806	broad.mit.edu	37	chr1	243542116	243542116	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccagagaggagtgcctgAgactaacagaactgctgggc	15	9	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:243542116A>C	uc001hzw.2	+	13	1723	c.1567A>C	c.(1567-1569)AGA>CGA	p.R523R	SDCCAG8_uc010pyk.1_Silent_p.R378R|SDCCAG8_uc010pyl.1_Silent_p.R335R|SDCCAG8_uc001hzx.2_Silent_p.R335R	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	523	Potential.|Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding				0	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GGAGTGCCTGAGACTAACAGA	0.488													C	243542116	A	C	243542116	2	2	75	1	0	0	0	0	0	0	0	1	13959	296	11	5		5	SDCCAG8	1	243542116	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1874649	243542116	5708505	131	52342											
CNST	163882	broad.mit.edu	37	chr1	246811064	246811064	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaaatatctgacttaggcAtactgcttccagaggtgtgt	9	8	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:246811064A>G	uc001ibp.2	+	9	1939	c.1561A>G	c.(1561-1563)ATA>GTA	p.I521V	CNST_uc001ibo.3_Missense_Mutation_p.I521V	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	521					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						TGACTTAGGCATACTGCTTCC	0.443													G	246811064	A	G	246811064	3	3	75	1	0	0	0	0	1	0	0	0	3634	217	8	3	1591	3	CNST	1	246811064	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	3268948	246811064	2439557	132	52343											
AHCTF1	25909	broad.mit.edu	37	chr1	247062790	247062790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacaagttaaatgaacaactCccgagtttaacaaacaagtg	6	8	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:247062790C>T	uc001ibu.1	-	10	1464	c.1457G>A	c.(1456-1458)GGA>GAA	p.G486E	AHCTF1_uc001ibv.1_Missense_Mutation_p.G495E|AHCTF1_uc009xgs.1_5'UTR	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	486	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATGAACAACTCCCGAGTTTAA	0.279													T	247062790	C	T	247062790	3	4	75	1	0	0	0	0	1	0	0	0	408	855	30	4	5447	4	AHCTF1	1	247062790	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	251726	247062790	2187831	133	52344											
ZNF669	79862	broad.mit.edu	37	chr1	247263916	247263916	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcatagggtttctctccGgtatgagtacttctatggtt	9	8	3	1	rs143544880		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:247263916G>A	uc001ice.2	-	4	1328	c.1155C>T	c.(1153-1155)ACC>ACT	p.T385T	ZNF669_uc001icf.2_Silent_p.T299T	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	zinc finger protein 669 isoform 1	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GTTTCTCTCCGGTATGAGTAC	0.428													A	247263916	G	A	247263916	2	1	75	1	0	0	0	0	0	0	0	1	18073	1103	39	1		1	ZNF669	1	247263916	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	201126	247263916	1986705	134	52345											
OR2G2	81470	broad.mit.edu	37	chr1	247751729	247751729	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttttagggttttctgattAtcctcagttacagaaggttc	8	8	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:247751729A>G	uc010pyy.1	+	1	68	c.68A>G	c.(67-69)TAT>TGT	p.Y23C		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	23	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTTTCTGATTATCCTCAGTTA	0.418													G	247751729	A	G	247751729	3	3	75	1	0	0	0	0	1	0	0	0	10998	449	16	3	70	3	OR2G2	1	247751729	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	487813	247751729	1498892	135	52346											
OR2G2	81470	broad.mit.edu	37	chr1	247752185	247752185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcccttctgtgggcatcGccaagtggatcatttcatct	10	12	4	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:247752185G>A	uc010pyy.1	+	1	524	c.524G>A	c.(523-525)CGC>CAC	p.R175H		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	175	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGTGGGCATCGCCAAGTGGAT	0.552													A	247752185	G	A	247752185	3	1	75	1	0	0	0	0	1	0	0	0	10998	1087	38	1	526	1	OR2G2	1	247752185	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	456	247752185	1498436	136	52347											
OR14A16	284532	broad.mit.edu	37	chr1	247978944	247978944	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcacacaaataaatcaacaAgaagagaatcgaatgcaaaa	7	7	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:247978944A>G	uc001idm.1	-	1	88	c.88T>C	c.(88-90)TTG>CTG	p.L30L		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TAAATCAACAAGAAGAGAATC	0.383													G	247978944	A	G	247978944	2	3	75	1	0	0	0	0	0	0	0	1	10945	69	3	3		3	OR14A16	1	247978944	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	226759	247978944	1271677	137	52348											
OR2L2	26246	broad.mit.edu	37	chr1	248202164	248202164	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtctatgagagcacagtgTttttgagcagcaccatcttt	11	8	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:248202164T>G	uc001idw.2	+	1	691	c.595T>G	c.(595-597)TTT>GTT	p.F199V	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	199	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GAGCACAGTGTTTTTGAGCAG	0.483													G	248202164	T	G	248202164	3	3	75	1	0	0	0	0	1	0	0	0	11007	1725	60	5	597	5	OR2L2	1	248202164	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	223220	248202164	1048457	138	52349											
OR2T4	127074	broad.mit.edu	37	chr1	248525492	248525492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccccttccgtggatccCgggagattcatcatttcttc	7	15	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:248525492C>T	uc001ieh.1	+	1	610	c.610C>T	c.(610-612)CGG>TGG	p.R204W		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	204	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCGTGGATCCCGGGAGATTCA	0.498													T	248525492	C	T	248525492	3	4	75	1	0	0	0	0	1	0	0	0	11027	643	23	1	612	1	OR2T4	1	248525492	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	323328	248525492	725129	139	52350											
OR2T1	26696	broad.mit.edu	37	chr1	248569368	248569368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcctaacaattaattcaCatgttgttattttactgccc	5	10	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:248569368C>T	uc010pzm.1	+	1	73	c.73C>T	c.(73-75)CAT>TAT	p.H25Y		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	25	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AATTAATTCACATGTTGTTAT	0.333													T	248569368	C	T	248569368	3	4	75	1	0	0	0	0	1	0	0	0	11016	478	17	4	75	4	OR2T1	1	248569368	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	43876	248569368	681253	140	52351											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10904471	10904472	+	Frame_Shift_Ins	INS	-	-	T													tccagttgacttaacatcctINSttgtgacccactttgaatgg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:10904470_10904471C>CT	uc002ras.3	+	4	406_407	c.297_298C>CT	c.(295-300)tcctttfs	p.S99fs	ATP6V1C2_uc002rat.3_Frame_Shift_Ins_p.S99fs	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	99					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		ACTTAACATCCTTTGTGACCCA	0.485													T	10904472	-	T	10904471	7	5	75	1	0	1	1	0	0	0	0	0	1181	1609	56	0	312	0	ATP6V1C2	2	10904471	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08		10904471	232294902	141	52352											
KCNF1	3754	broad.mit.edu	37	chr2	11052611	11052611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccagagctccgctgccaGcgacgacatagagatagtcg	12	13	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:11052611G>A	uc002rax.2	+	1	549	c.59G>A	c.(58-60)AGC>AAC	p.S20N		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	20	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TCCGCTGCCAGCGACGACATA	0.597													A	11052611	G	A	11052611	3	1	75	1	0	0	0	0	1	0	0	0	8026	971	34	2	61	2	KCNF1	2	11052611	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	148140	11052611	232146762	142	52353											
KCNF1	3754	broad.mit.edu	37	chr2	11053197	11053197	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggacgccgagggcaaCcgcgtggagcacccgacgct	16	14	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:11053197C>T	uc002rax.2	+	1	1135	c.645C>T	c.(643-645)AAC>AAT	p.N215N		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	215						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCGAGGGCAACCGCGTGGAGC	0.652													T	11053197	C	T	11053197	2	4	75	1	0	0	0	0	0	0	0	1	8026	506	18	4		4	KCNF1	2	11053197	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	586	11053197	232146176	143	52354											
MYCN	4613	broad.mit.edu	37	chr2	16085828	16085828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcacaactatgccgcccCctctccctacgtggagagtg	10	16	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:16085828C>T	uc002rci.2	+	3	1304	c.1004C>T	c.(1003-1005)CCC>CTC	p.P335L	MYCN_uc010yjr.1_Missense_Mutation_p.P327L	NM_005378	NP_005369	P04198	MYCN_HUMAN	v-myc myelocytomatosis viral related oncogene,	335					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			TATGCCGCCCCCTCTCCCTAC	0.612			A		neuroblastoma								T	16085828	C	T	16085828	3	4	75	1	0	0	0	0	1	0	0	0	10021	623	22	4	1010	4	MYCN	2	16085828	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	5032631	16085828	227113545	144	52355											
APOB	338	broad.mit.edu	37	chr2	21238054	21238054	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttaggataatcggagagaTccacagggaaattggaagtc	12	6	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:21238054T>G	uc002red.2	-	23	3715	c.3587A>C	c.(3586-3588)GAT>GCT	p.D1196A		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1196					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATCGGAGAGATCCACAGGGAA	0.408													G	21238054	T	G	21238054	3	3	75	1	0	0	0	0	1	0	0	0	785	1435	50	5	10132	5	APOB	2	21238054	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	5152226	21238054	221961319	145	52356											
NCOA1	8648	broad.mit.edu	37	chr2	24962359	24962359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcaactgctcctgttgGcatcaatatgagatcaggca	10	10	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:24962359G>A	uc002rfk.2	+	16	3518	c.3260G>A	c.(3259-3261)GGC>GAC	p.G1087D	NCOA1_uc010eye.2_Missense_Mutation_p.G1087D|NCOA1_uc002rfi.2_Missense_Mutation_p.G936D|NCOA1_uc002rfj.2_Missense_Mutation_p.G1087D|NCOA1_uc002rfl.2_Missense_Mutation_p.G1087D|NCOA1_uc010eyf.2_5'Flank	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	1087	Gln-rich.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTCCTGTTGGCATCAATATG	0.373			T	PAX3	alveolar rhadomyosarcoma								A	24962359	G	A	24962359	3	1	75	1	0	0	0	0	1	0	0	0	10228	1203	42	2	3314	2	NCOA1	2	24962359	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	3724305	24962359	218237014	146	52357											
C2orf70	339778	broad.mit.edu	37	chr2	26800479	26800479	+	Frame_Shift_Del	DEL	C	C	-													gtgagggagccggaacggtaCcccctccccaccgtcctgtg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:26800478_26800478AC>A	uc010eyn.3	+	2	443	c.443_443AC>A	c.(442-444)tacfs	p.Y148fs		NM_001105519	NP_001098989	A6NJV1	CB070_HUMAN	Homo sapiens chromosome 2 open reading frame 70 (C2orf70), mRNA.	148										breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						CCGGAACGGTACCCCCTCCCC	0.612											OREG0014506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	26800479	C	-	26800479	7	5	75	1	0	1	0	1	0	0	0	0	2190	518	18	0	454	0	C2orf70	2	26800479	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	1838120	26800479	216398894	147	52358											
CAPN13	92291	broad.mit.edu	37	chr2	30998797	30998797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcaagggcacacgtaccCggaaacggaaaatgccagca	12	12	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:30998797C>T	uc002rnn.2	-	4	562	c.386G>A	c.(385-387)CGG>CAG	p.R129Q	CAPN13_uc002rnp.1_Missense_Mutation_p.R129Q	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	calpain 13	129	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			large_intestine(1)|ovary(1)	2	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CACACGTACCCGGAAACGGAA	0.512													T	30998797	C	T	30998797	3	4	75	1	0	0	0	0	1	0	0	0	2626	666	23	1	1699	1	CAPN13	2	30998797	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	4198318	30998797	212200576	148	52359											
BIRC6	57448	broad.mit.edu	37	chr2	32688342	32688342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgacagccctgagttcaGcagcccaggtagctttgcag	11	14	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:32688342G>A	uc010ezu.2	+	24	4968	c.4834G>A	c.(4834-4836)GCA>ACA	p.A1612T		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1612					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCTGAGTTCAGCAGCCCAGGT	0.532													A	32688342	G	A	32688342	3	1	75	1	0	0	0	0	1	0	0	0	1438	971	34	2	4928	2	BIRC6	2	32688342	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1689545	32688342	210511031	149	52360											
LTBP1	4052	broad.mit.edu	37	chr2	33568029	33568029	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggatgggcaagggtgtgtGggtgagtttttagatttttt	16	2	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:33568029G>C	uc002ros.2	+	25	3858	c.3858G>C	c.(3856-3858)GTG>GTC	p.V1286V	LTBP1_uc002rot.2_Silent_p.V960V|LTBP1_uc002rou.2_Silent_p.V959V|LTBP1_uc002rov.2_Silent_p.V906V|LTBP1_uc010ymz.1_Intron|LTBP1_uc010yna.1_Intron|LTBP1_uc010ynb.1_Intron	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1285					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAGGGTGTGTGGGTGAGTTTT	0.473													C	33568029	G	C	33568029	2	2	75	1	0	0	0	0	0	0	0	1	9073	1362	47	5		5	LTBP1	2	33568029	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	879687	33568029	209631344	150	52361											
GALM	130589	broad.mit.edu	37	chr2	38908522	38908522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagttaaaagtctgggtgaCatacaccctggatggcggag	14	7	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:38908522C>T	uc002rqy.2	+	3	698	c.446C>T	c.(445-447)ACA>ATA	p.T149I		NM_138801	NP_620156	Q96C23	GALM_HUMAN	galactose mutarotase	149					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding				0		all_hematologic(82;0.248)				GTCTGGGTGACATACACCCTG	0.547													T	38908522	C	T	38908522	3	4	75	1	0	0	0	0	1	0	0	0	6205	478	17	4	456	4	GALM	2	38908522	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	5340493	38908522	204290851	151	52362											
PRKCE	5581	broad.mit.edu	37	chr2	46234667	46234667	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaccgaggagaggagcaccGggcagcatcgtctcctgatg	14	12	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:46234667G>T	uc002rut.2	+	9	1327	c.1130G>T	c.(1129-1131)CGG>CTG	p.R377L		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	377					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			GAGGAGCACCGGGCAGCATCG	0.537													T	46234667	G	T	46234667	3	4	75	1	0	0	0	0	1	0	0	0	12511	1116	39	5	1164	5	PRKCE	2	46234667	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	7326145	46234667	196964706	152	52363											
FOXN2	3344	broad.mit.edu	37	chr2	48602420	48602420	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcaaaaatctctgaaaaAgggcagtcaggcaaaaagat	10	6	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:48602420A>G	uc002rwh.1	+	7	1449	c.1134A>G	c.(1132-1134)AAA>AAG	p.K378K		NM_002158	NP_002149	P32314	FOXN2_HUMAN	T-cell leukemia virus enhancer factor	378					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TCTCTGAAAAAGGGCAGTCAG	0.438													G	48602420	A	G	48602420	2	3	75	1	0	0	0	0	0	0	0	1	6020	69	3	3		3	FOXN2	2	48602420	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	2367753	48602420	194596953	153	52364											
FSHR	2492	broad.mit.edu	37	chr2	49210274	49210274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccattgaatgcacagttgtGtatttcttgaatcccattct	6	9	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:49210274G>A	uc002rww.2	-	7	630	c.556C>T	c.(556-558)CAC>TAC	p.H186Y	FSHR_uc002rwx.2_Missense_Mutation_p.H186Y|FSHR_uc010fbn.2_Missense_Mutation_p.H160Y|FSHR_uc010fbo.1_RNA	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	186	Extracellular (Potential).|LRR 6.				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GCACAGTTGTGTATTTCTTGA	0.368									Gonadal_Dysgenesis_46_XX				A	49210274	G	A	49210274	3	1	75	1	0	0	0	0	1	0	0	0	6073	1377	48	4	1547	4	FSHR	2	49210274	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	607854	49210274	193989099	154	52365											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	75	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-BR-8363-01A-11D-2340-08	4956866	54167140	189032233	155	52366											
SPTBN1	6711	broad.mit.edu	37	chr2	54856337	54856337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcgaggacgagatgagcgGccgcagtggccactttgagc	16	10	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:54856337G>A	uc002rxu.2	+	14	2315	c.2066G>A	c.(2065-2067)GGC>GAC	p.G689D	SPTBN1_uc002rxv.1_Missense_Mutation_p.G689D|SPTBN1_uc002rxx.2_Missense_Mutation_p.G676D	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	689	Spectrin 4.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			GAGATGAGCGGCCGCAGTGGC	0.582													A	54856337	G	A	54856337	3	1	75	1	0	0	0	0	1	0	0	0	15118	1203	42	2	2229	2	SPTBN1	2	54856337	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	689197	54856337	188343036	156	52367											
SPTBN1	6711	broad.mit.edu	37	chr2	54895586	54895586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacgccagcatccagccgCgcgcagaccctccccaccag	9	21	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:54895586C>T	uc002rxu.2	+	36	7224	c.6975C>T	c.(6973-6975)CGC>CGT	p.R2325R	SPTBN1_uc010you.1_Silent_p.R315R	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	2325					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			CATCCAGCCGCGCGCAGACCC	0.582													T	54895586	C	T	54895586	2	4	75	1	0	0	0	0	0	0	0	1	15118	755	27	1		1	SPTBN1	2	54895586	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	39249	54895586	188303787	157	52368											
CCDC88A	55704	broad.mit.edu	37	chr2	55544436	55544436	+	Frame_Shift_Del	DEL	T	T	-													ttcctgttctactttgagcaTtttttccaaatcttccaact							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:55544435_55544435AT>A	uc002ryv.2	-	20	4492	c.3650_3650AT>T	c.(3649-3651)atgfs	p.M1217fs	CCDC88A_uc010ypa.1_Frame_Shift_Del_p.M1217fs|CCDC88A_uc010yoz.1_Frame_Shift_Del_p.M1218fs|CCDC88A_uc002ryu.2_Frame_Shift_Del_p.M500fs|CCDC88A_uc002rys.3_Frame_Shift_Del_p.M203fs|CCDC88A_uc002ryw.3_Frame_Shift_Del_p.M501fs|CCDC88A_uc010fby.1_Frame_Shift_Del_p.M97fs	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	1218					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.E1216G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TACTTTGAGCATTTTTTCCAA	0.299													-	55544436	T	-	55544436	7	5	75	1	0	1	0	1	0	0	0	0	2863	1493	52	0	2011	0	CCDC88A	2	55544436	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	648850	55544436	187654937	158	52369											
BCL11A	53335	broad.mit.edu	37	chr2	60688902	60688902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatttgaacgtcttgccgCagaactcgcatgacttggac	10	10	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:60688902C>T	uc002sae.1	-	4	1373	c.1145G>A	c.(1144-1146)TGC>TAC	p.C382Y	BCL11A_uc002sab.2_Missense_Mutation_p.C382Y|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Missense_Mutation_p.C348Y|BCL11A_uc002sad.1_Missense_Mutation_p.C230Y|BCL11A_uc002saf.1_Missense_Mutation_p.C348Y	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	382	C2H2-type 2.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGTCTTGCCGCAGAACTCGCA	0.652			T	IGH@	B-CLL								T	60688902	C	T	60688902	3	4	75	1	0	0	0	0	1	0	0	0	1363	710	25	2	1472	2	BCL11A	2	60688902	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	5144466	60688902	182510471	159	52370											
CEP68	23177	broad.mit.edu	37	chr2	65296702	65296702	+	Frame_Shift_Del	DEL	C	C	-													ggcccatgagtggggagcagCccccacgcctggaagctgag							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:65296701_65296701GC>G	uc002sdl.4	+	1	337	c.123_123GC>G	c.(121-123)cagfs	p.Q41fs	CEP68_uc002sdj.2_Frame_Shift_Del_p.Q41fs|CEP68_uc010yqb.1_Frame_Shift_Del_p.Q41fs|CEP68_uc002sdk.4_Frame_Shift_Del_p.Q41fs|CEP68_uc010yqc.2_Frame_Shift_Del_p.Q41fs|CEP68_uc010yqd.1_Frame_Shift_Del_p.Q41fs	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	41					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GTGGGGAGCAGCCCCCACGCC	0.642													-	65296702	C	-	65296702	7	5	75	1	0	1	0	1	0	0	0	0	3258	739	26	0	126	0	CEP68	2	65296702	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	4607800	65296702	177902671	160	52371											
CEP68	23177	broad.mit.edu	37	chr2	65305048	65305048	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagtctctgacggagagtgTcttacagaagggggagattc	14	7	3	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:65305048T>C	uc002sdl.3	+	5	2268	c.2054T>C	c.(2053-2055)GTC>GCC	p.V685A	CEP68_uc010yqb.1_Intron|CEP68_uc002sdk.3_Missense_Mutation_p.V548A|CEP68_uc010yqc.1_Missense_Mutation_p.V685A	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	685					centrosome organization	centrosome				skin(1)	1						ACGGAGAGTGTCTTACAGAAG	0.418													C	65305048	T	C	65305048	3	2	75	1	0	0	0	0	1	0	0	0	3258	1667	58	3	2068	3	CEP68	2	65305048	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	8346	65305048	177894325	161	52372											
ARHGAP25	9938	broad.mit.edu	37	chr2	69034514	69034514	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagttcatcctggagcacggCcggaatgaagagggcatctt	14	9	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:69034514C>A	uc002seu.2	+	5	937	c.573C>A	c.(571-573)GGC>GGA	p.G191G	ARHGAP25_uc010yqk.1_Silent_p.G166G|ARHGAP25_uc010fdg.2_Silent_p.G192G|ARHGAP25_uc010yql.1_Silent_p.G152G|ARHGAP25_uc002sev.2_Silent_p.G185G|ARHGAP25_uc002sew.2_Silent_p.G184G|ARHGAP25_uc002sex.2_Silent_p.G185G|ARHGAP25_uc010fdh.1_RNA|ARHGAP25_uc002sey.2_5'UTR	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	191	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						TGGAGCACGGCCGGAATGAAG	0.582													A	69034514	C	A	69034514	2	1	75	1	0	0	0	0	0	0	0	1	874	726	26	5		5	ARHGAP25	2	69034514	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3729466	69034514	174164859	162	52373											
AAK1	22848	broad.mit.edu	37	chr2	69748102	69748102	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaattgaagtctctgtggtGggaatgggatctgtcagtct	14	6	4	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:69748102G>A	uc002sfp.2	-	11	1579	c.1074C>T	c.(1072-1074)CCC>CCT	p.P358P	AAK1_uc010fdk.2_Silent_p.P358P|AAK1_uc010yqm.1_Silent_p.P358P|SNORA36C_uc010fdl.2_5'Flank	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	358						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0						TCTCTGTGGTGGGAATGGGAT	0.527													A	69748102	G	A	69748102	2	1	75	1	0	0	0	0	0	0	0	1	16	1335	47	4		4	AAK1	2	69748102	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	713588	69748102	173451271	163	52374											
ADD2	119	broad.mit.edu	37	chr2	70922922	70922922	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagtggtcctgctccttGctgactctcaactggaggaa	12	10	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:70922922G>A	uc002sgz.2	-	6	951	c.486C>T	c.(484-486)AGC>AGT	p.S162S	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Silent_p.S162S|ADD2_uc002sha.2_Silent_p.S162S|ADD2_uc002sgx.2_Silent_p.S162S|ADD2_uc010fdt.1_Silent_p.S162S|ADD2_uc002shc.1_Silent_p.S162S|ADD2_uc002shd.1_Silent_p.S162S|ADD2_uc010fdu.1_Silent_p.S178S	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	162					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						CCTGCTCCTTGCTGACTCTCA	0.537													A	70922922	G	A	70922922	2	1	75	1	0	0	0	0	0	0	0	1	305	1310	46	2		2	ADD2	2	70922922	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1174820	70922922	172276451	164	52375											
DYSF	8291	broad.mit.edu	37	chr2	71708055	71708055	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcaagaacagcgtgaaccCtgtatggaatgaggtatgtg	12	7	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:71708055C>A	uc002sie.2	+	2	507	c.131C>A	c.(130-132)CCT>CAT	p.P44H	DYSF_uc010feg.2_Missense_Mutation_p.P44H|DYSF_uc010feh.2_Missense_Mutation_p.P44H|DYSF_uc002sig.3_Missense_Mutation_p.P44H|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.P44H|DYSF_uc010fef.2_Missense_Mutation_p.P44H|DYSF_uc010fei.2_Missense_Mutation_p.P44H|DYSF_uc010fek.2_Missense_Mutation_p.P45H|DYSF_uc010fej.2_Missense_Mutation_p.P45H|DYSF_uc010fel.2_Missense_Mutation_p.P45H|DYSF_uc010feo.2_Missense_Mutation_p.P45H|DYSF_uc010fem.2_Missense_Mutation_p.P45H|DYSF_uc010fen.2_Missense_Mutation_p.P45H|DYSF_uc002sif.2_Missense_Mutation_p.P45H	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	44	Cytoplasmic (Potential).|C2 1.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						AGCGTGAACCCTGTATGGAAT	0.502													A	71708055	C	A	71708055	3	1	75	1	0	0	0	0	1	0	0	0	4859	681	24	5	232	5	DYSF	2	71708055	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	785133	71708055	171491318	165	52376											
SLC4A5	57835	broad.mit.edu	37	chr2	74513011	74513011	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccccaggatgtcctggagcTgctcagcagctggggaccct	13	15	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:74513011T>G	uc002sko.1	-	3	292	c.290A>C	c.(289-291)CAG>CCG	p.Q97P	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.Q97P|SLC4A5_uc010ffc.1_Missense_Mutation_p.Q97P|SLC4A5_uc002skp.1_Missense_Mutation_p.Q33P|SLC4A5_uc002sks.1_Missense_Mutation_p.Q97P	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	97	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						GTCCTGGAGCTGCTCAGCAGC	0.582													G	74513011	T	G	74513011	3	3	75	1	0	0	0	0	1	0	0	0	14657	1580	55	5	3219	5	SLC4A5	2	74513011	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	2804956	74513011	168686362	166	52377											
AUP1	550	broad.mit.edu	37	chr2	74754869	74754869	+	Frame_Shift_Del	DEL	G	G	-													tagagaccacatacctgactGggggcgcaatctggggtgtc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:74754868_74754868TG>T	uc002smh.3	-	6	1250	c.563_563CA>A	c.(562-564)cagfs	p.Q188fs	DQX1_uc010yrw.2_5'Flank|AUP1_uc002sme.3_Frame_Shift_Del_p.Q12fs|AUP1_uc002smf.3_Frame_Shift_Del_p.Q279fs|AUP1_uc002smg.3_Non-coding_Transcript|AUP1_uc010yrx.2_Frame_Shift_Del_p.Q336fs|AUP1_uc021vjm.1_Frame_Shift_Del_p.Q188fs|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc010ffl.3_5'Flank			Q9Y679	AUP1_HUMAN	Homo sapiens ancient ubiquitous protein 1 (AUP1), mRNA.	345						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						CATACCTGACTGGGGGCGCAA	0.507													-	74754869	G	-	74754869	7	5	75	1	0	1	0	1	0	0	0	0	1220	1357	47	0	417	0	AUP1	2	74754869	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	241858	74754869	168444504	167	52378											
HK2	3099	broad.mit.edu	37	chr2	75116469	75116469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttaaggaggtgtgcactGtggtggcccggcgggcagcc	18	9	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:75116469G>A	uc002snd.2	+	17	4399	c.2473G>A	c.(2473-2475)GTG>ATG	p.V825M		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	825	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2						GGTGTGCACTGTGGTGGCCCG	0.607													A	75116469	G	A	75116469	3	1	75	1	0	0	0	0	1	0	0	0	7191	1377	48	4	2539	4	HK2	2	75116469	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	361600	75116469	168082904	168	52379											
REG3A	5068	broad.mit.edu	37	chr2	79386462	79386462	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaagcaatctcaccttgaaCctgagacagcagcatgaggc	9	12	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:79386462C>A	uc002sod.1	-	1	325	c.70G>T	c.(70-72)GTT>TTT	p.V24F	REG3A_uc002soe.1_Missense_Mutation_p.V24F|REG3A_uc002sof.1_Missense_Mutation_p.V24F	NM_138938	NP_620355	Q06141	REG3A_HUMAN	pancreatitis-associated protein precursor	24					acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			skin(1)	1						TCACCTTGAACCTGAGACAGC	0.532													A	79386462	C	A	79386462	3	1	75	1	0	0	0	0	1	0	0	0	13212	507	18	5	477	5	REG3A	2	79386462	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	4269993	79386462	163812911	169	52380											
FAHD2B	151313	broad.mit.edu	37	chr2	97751467	97751467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttggtcaccaaggcaggGcccagagggcagaaggtgtc	15	11	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:97751467G>A	uc002sxm.2	-	5	805	c.654C>T	c.(652-654)GGC>GGT	p.G218G		NM_199336	NP_955368	Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing	218							hydrolase activity|metal ion binding				0						CCAAGGCAGGGCCCAGAGGGC	0.577													A	97751467	G	A	97751467	2	1	75	1	0	0	0	0	0	0	0	1	5374	1190	42	2		2	FAHD2B	2	97751467	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	18365005	97751467	145447906	170	52381											
TBC1D8	11138	broad.mit.edu	37	chr2	101624336	101624337	+	Frame_Shift_Del	DEL	TT	TT	-													ttggtggctcatttcaaaagTtttgagattgtactgattga					rs66489754		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:101624335_101624336GTT>G	uc010fiv.3	-	19	3501_3502	c.3370_3371AAC>C	c.(3370-3372)actfs	p.T1124fs	RPL31_uc010yvu.1_Intron|RPL31_uc010yvv.1_Intron|RPL31_uc010fiu.1_Intron|TBC1D8_uc002tau.4_Frame_Shift_Del_p.T881fs	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	1124					blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CATTTCAAAAGTTTTGAGATTG	0.401													-	101624337	TT	-	101624336	7	5	75	1	0	1	0	1	0	0	0	0	15622	1725	60	0	56	0	TBC1D8	2	101624336	Frame_Shift_Del	DEL	TT	TCGA-BR-8363-01A-11D-2340-08	3872869	101624336	141575037	171	52382											
FHL2	2274	broad.mit.edu	37	chr2	105979823	105979823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagtaggcaaagtcatcgcGagctgtgaagcgctgcccag	14	11	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:105979823G>A	uc002tcu.2	-	5	944	c.607C>T	c.(607-609)CGC>TGC	p.R203C	FHL2_uc002tdc.2_Missense_Mutation_p.R89C|FHL2_uc002tdd.2_Missense_Mutation_p.R203C|FHL2_uc002tct.2_Missense_Mutation_p.R89C|FHL2_uc002tcv.2_Missense_Mutation_p.R203C|FHL2_uc002tcw.2_Missense_Mutation_p.R203C|FHL2_uc002tcx.2_Missense_Mutation_p.R203C|FHL2_uc010fje.2_Missense_Mutation_p.R116C|FHL2_uc002tcy.2_Missense_Mutation_p.R203C|FHL2_uc002tcz.2_Missense_Mutation_p.R313C|FHL2_uc002tda.2_RNA|FHL2_uc002tdb.2_Missense_Mutation_p.R319C	NM_201557	NP_963851	Q14192	FHL2_HUMAN	four and a half LIM domains 2	203	LIM zinc-binding 3.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			ovary(1)	1						AAGTCATCGCGAGCTGTGAAG	0.612													A	105979823	G	A	105979823	3	1	75	1	0	0	0	0	1	0	0	0	5879	1058	37	1	240	1	FHL2	2	105979823	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	4355487	105979823	137219550	172	52383											
SH3RF3	344558	broad.mit.edu	37	chr2	110015388	110015388	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgctcatctgtcgtgcgctGctcccacccaggtaacatcc	8	16	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:110015388G>T	uc010ywt.1	+	4	1288	c.1288G>T	c.(1288-1290)GCT>TCT	p.A430S		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	430							zinc ion binding			ovary(1)	1						GTCGTGCGCTGCTCCCACCCA	0.602													T	110015388	G	T	110015388	3	4	75	1	0	0	0	0	1	0	0	0	14260	1319	46	5	1302	5	SH3RF3	2	110015388	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	4035565	110015388	133183985	173	52384											
ANAPC1	64682	broad.mit.edu	37	chr2	112621367	112621367	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggtgaagtcacaggggAatctcctttggagaggcttc	14	7	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:112621367A>G	uc002thi.2	-	9	1184	c.937T>C	c.(937-939)TCC>CCC	p.S313P		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	313					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				skin(2)	2						GTCACAGGGGAATCTCCTTTG	0.493													G	112621367	A	G	112621367	3	3	75	1	0	0	0	0	1	0	0	0	598	246	9	3	5057	3	ANAPC1	2	112621367	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	2605979	112621367	130578006	174	52385											
IL1F5	26525	broad.mit.edu	37	chr2	113820192	113820192	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcctgtcagactcacccagCttcccgagaatggtggctgg	12	13	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:113820192C>A	uc002tis.2	+	5	539	c.406C>A	c.(406-408)CTT>ATT	p.L136I	IL1F5_uc002tit.2_Missense_Mutation_p.L136I	NM_173170	NP_775262	Q9UBH0	I36RA_HUMAN	interleukin 1 family, member 5	136						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity				0						ACTCACCCAGCTTCCCGAGAA	0.632													A	113820192	C	A	113820192	3	1	75	1	0	0	0	0	1	0	0	0	7653	797	28	5	420	5	IL1F5	2	113820192	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1198825	113820192	129379181	175	52386											
CNTNAP5	129684	broad.mit.edu	37	chr2	125192241	125192241	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttggaactccagaaggggaGgctcgccctacacctcaatt	10	13	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:125192241G>T	uc002tno.2	+	5	1074	c.710G>T	c.(709-711)AGG>ATG	p.R237M	CNTNAP5_uc010flu.2_Missense_Mutation_p.R237M	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	237	Laminin G-like 1.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAGAAGGGGAGGCTCGCCCTA	0.537													T	125192241	G	T	125192241	3	4	75	1	0	0	0	0	1	0	0	0	3650	1000	35	5	728	5	CNTNAP5	2	125192241	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	11372049	125192241	118007132	176	52387											
MYO7B	4648	broad.mit.edu	37	chr2	128345990	128345990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggagaagaaccgagacGtgctgagcacagatatcctc	11	11	0	5			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:128345990G>A	uc002top.2	+	15	1767	c.1714G>A	c.(1714-1716)GTG>ATG	p.V572M		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	572	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GAACCGAGACGTGCTGAGCAC	0.547													A	128345990	G	A	128345990	3	1	75	1	0	0	0	0	1	0	0	0	10083	1145	40	1	1768	1	MYO7B	2	128345990	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	3153749	128345990	114853383	177	52388											
NCKAP5	344148	broad.mit.edu	37	chr2	133540748	133540748	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaactgccctgtgcttgtgaAtccggtagggtcacatttct	10	10	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:133540748A>T	uc002ttp.2	-	14	4010	c.3636T>A	c.(3634-3636)GAT>GAA	p.D1212E	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1212							protein binding				0						GTGCTTGTGAATCCGGTAGGG	0.522													T	133540748	A	T	133540748	3	4	75	1	0	0	0	0	1	0	0	0	10223	98	4	5	2121	5	NCKAP5	2	133540748	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	5194758	133540748	109658625	178	52389											
YSK4	80122	broad.mit.edu	37	chr2	135738531	135738531	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtggaggcttccctgtagcCatctcaaacacagtacaacc	8	13	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:135738531C>A	uc002tue.1	-	9	3811	c.3780G>T	c.(3778-3780)ATG>ATT	p.M1260I	YSK4_uc002tuf.1_Missense_Mutation_p.M442I|YSK4_uc010fnc.1_Missense_Mutation_p.M394I|YSK4_uc010fnd.1_Missense_Mutation_p.M1147I|YSK4_uc010zbg.1_Missense_Mutation_p.M392I|YSK4_uc002tuh.3_Missense_Mutation_p.M988I|YSK4_uc002tui.3_3'UTR	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	1260	Protein kinase.						ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCCCTGTAGCCATCTCAAACA	0.517													A	135738531	C	A	135738531	3	1	75	1	0	0	0	0	1	0	0	0	17492	594	21	5	214	5	YSK4	2	135738531	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2197783	135738531	107460842	179	52390											
DARS	1615	broad.mit.edu	37	chr2	136719000	136719000	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccatctgcttgcttgcatGgtctcccaccgccacaagag	8	15	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:136719000G>T	uc002tux.1	-	4	470	c.286C>A	c.(286-288)CAT>AAT	p.H96N	DARS_uc010fnj.1_5'UTR	NM_001349	NP_001340	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	96					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	TTGCTTGCATGGTCTCCCACC	0.433													T	136719000	G	T	136719000	3	4	75	1	0	0	0	0	1	0	0	0	4241	1348	47	5	1271	5	DARS	2	136719000	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	980469	136719000	106480373	180	52391											
ZEB2	9839	broad.mit.edu	37	chr2	145156721	145156721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggaaggcccacagcaatgGaaattttcagcagttcatcg	11	9	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:145156721G>A	uc002tvu.2	-	8	2513	c.2033C>T	c.(2032-2034)TCC>TTC	p.S678F	ZEB2_uc002tvv.2_Missense_Mutation_p.S672F|ZEB2_uc010zbm.1_Missense_Mutation_p.S649F|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.S707F	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	678	Homeobox; atypical.					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		CACAGCAATGGAAATTTTCAG	0.458													A	145156721	G	A	145156721	3	1	75	1	0	0	0	0	1	0	0	0	17621	1174	41	4	1623	4	ZEB2	2	145156721	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	8437721	145156721	98042652	181	52392											
RBM43	375287	broad.mit.edu	37	chr2	152107949	152107949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattccactttctctcctcaCtggtaaaatttctgtctttt	3	11	4	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:152107949C>T	uc002txh.2	-	4	693	c.545G>A	c.(544-546)AGT>AAT	p.S182N		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	182							nucleotide binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(221;0.131)		TCTCTCCTCACTGGTAAAATT	0.423													T	152107949	C	T	152107949	3	4	75	1	0	0	0	0	1	0	0	0	13137	565	20	4	532	4	RBM43	2	152107949	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	6951228	152107949	91091424	182	52393											
RBM43	375287	broad.mit.edu	37	chr2	152112048	152112048	+	Splice_Site	DEL	T	T	-													aaatttgacttggaaataccTtttttttctttgaatattac							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:152112047_152112047CT>C	uc002txh.3	-	2	362	c.214_splice	c.e2+1	p.V72_splice		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	Homo sapiens RNA binding motif protein 43 (RBM43), mRNA.	72	RRM.						RNA binding|nucleotide binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTGGAAATACCTTTTTTTTCT	0.284													-	152112048	T	-	152112048	8	5	75	1	0	1	0	1	0	0	1	0	13137	1623	56	0	872	0	RBM43	2	152112048	Splice_Site	DEL	T	TCGA-BR-8363-01A-11D-2340-08	4099	152112048	91087325	183	52394											
FIGN	55137	broad.mit.edu	37	chr2	164467312	164467312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtacataggactctgtgTagatctctgttggccatagc	10	9	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:164467312T>C	uc002uck.1	-	3	1341	c.1030A>G	c.(1030-1032)ACA>GCA	p.T344A		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	344						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						GGACTCTGTGTAGATCTCTGT	0.433													C	164467312	T	C	164467312	3	2	75	1	0	0	0	0	1	0	0	0	5891	1638	57	3	1253	3	FIGN	2	164467312	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	12355264	164467312	78732061	184	52395											
SCN2A	6326	broad.mit.edu	37	chr2	166164371	166164371	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	attctactttattcaatatgCtcattatgtgcacgattctt	4	8	4	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:166164371C>G	uc002udc.2	+	4	690	c.400C>G	c.(400-402)CTC>GTC	p.L134V	SCN2A_uc002udd.2_Missense_Mutation_p.L134V|SCN2A_uc002ude.2_Missense_Mutation_p.L134V	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	134	I.|Helical; Name=S1 of repeat I; (Potential).				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	ATTCAATATGCTCATTATGTG	0.338													G	166164371	C	G	166164371	3	3	75	1	0	0	0	0	1	0	0	0	13916	797	28	5	410	5	SCN2A	2	166164371	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1697059	166164371	77035002	185	52396											
CSRNP3	80034	broad.mit.edu	37	chr2	166535566	166535566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgggagcagcttttgcaGcggagtcacagattctagca	14	8	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:166535566G>A	uc002udf.2	+	7	1437	c.1061G>A	c.(1060-1062)AGC>AAC	p.S354N	CSRNP3_uc002udg.2_Missense_Mutation_p.S354N	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	354	Glu-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						AGCTTTTGCAGCGGAGTCACA	0.433													A	166535566	G	A	166535566	3	1	75	1	0	0	0	0	1	0	0	0	3965	971	34	2	1075	2	CSRNP3	2	166535566	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	371195	166535566	76663807	186	52397											
LRP2	4036	broad.mit.edu	37	chr2	170034507	170034507	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccccatcatacaccgtgTgtcgatggtggccctccaaa	10	14	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:170034507T>C	uc002ues.2	-	53	10412	c.10199A>G	c.(10198-10200)CAC>CGC	p.H3400R		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3400	LDL-receptor class B 33.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATACACCGTGTGTCGATGGTG	0.438													C	170034507	T	C	170034507	3	2	75	1	0	0	0	0	1	0	0	0	8956	1696	59	3	3876	3	LRP2	2	170034507	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	3498941	170034507	73164866	187	52398											
KLHL23	151230	broad.mit.edu	37	chr2	170592513	170592513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaactgggggctacaggaCggataacatagaagctcttg	13	7	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:170592513C>T	uc002ufh.1	+	4	1327	c.989C>T	c.(988-990)ACG>ATG	p.T330M	KLHL23_uc002ufi.1_Missense_Mutation_p.T330M	NM_144711	NP_653312	Q8NBE8	KLH23_HUMAN	kelch-like 23	330	Kelch 2.										0						GGCTACAGGACGGATAACATA	0.428													T	170592513	C	T	170592513	3	4	75	1	0	0	0	0	1	0	0	0	8378	536	19	1	991	1	KLHL23	2	170592513	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	558006	170592513	72606860	188	52399											
HAT1	8520	broad.mit.edu	37	chr2	172841220	172841220	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgaagatatggcgatagaGgcacaacagaagttcaaaat	10	5	1	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:172841220G>T	uc002uhi.2	+	9	1024	c.948G>T	c.(946-948)GAG>GAT	p.E316D	HAT1_uc010fqi.2_Missense_Mutation_p.E151D|HAT1_uc002uhj.2_Missense_Mutation_p.E231D	NM_003642	NP_003633	O14929	HAT1_HUMAN	histone acetyltransferase 1	316					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			large_intestine(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGGCGATAGAGGCACAACAGA	0.318													T	172841220	G	T	172841220	3	4	75	1	0	0	0	0	1	0	0	0	6964	991	35	5	982	5	HAT1	2	172841220	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2248707	172841220	70358153	189	52400											
RBM45	129831	broad.mit.edu	37	chr2	178977345	178977345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagcctggacgaaccgccCaacagccgcatcttccttgt	9	16	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:178977345C>T	uc002ulv.2	+	1	164	c.72C>T	c.(70-72)CCC>CCT	p.P24P		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	24					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			ACGAACCGCCCAACAGCCGCA	0.642											OREG0015102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	178977345	C	T	178977345	2	4	75	1	0	0	0	0	0	0	0	1	13139	581	21	4		4	RBM45	2	178977345	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	6136125	178977345	64222028	190	52401											
TTN	7273	broad.mit.edu	37	chr2	179400220	179400220	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctggctcagtccatgttaAgttgacagaatctcgtgaga	12	8	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:179400220A>C	uc010zfg.1	-	307	93642	c.93418T>G	c.(93418-93420)TTA>GTA	p.L31140V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L24835V|TTN_uc010zfi.1_Missense_Mutation_p.L24768V|TTN_uc010zfj.1_Missense_Mutation_p.L24643V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32067							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCCATGTTAAGTTGACAGAA	0.453													C	179400220	A	C	179400220	3	2	75	1	0	0	0	0	1	0	0	0	16732	69	3	5	6877	5	TTN	2	179400220	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	422875	179400220	63799153	191	52402											
TTN	7273	broad.mit.edu	37	chr2	179437337	179437337	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacattgacaaatgcagactTgctgcctgaactattttcta	6	9	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:179437337T>C	uc010zfg.1	-	275	66042	c.65818A>G	c.(65818-65820)AAG>GAG	p.K21940E	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K15635E|TTN_uc010zfi.1_Missense_Mutation_p.K15568E|TTN_uc010zfj.1_Missense_Mutation_p.K15443E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22867							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGCAGACTTGCTGCCTGAA	0.423													C	179437337	T	C	179437337	3	2	75	1	0	0	0	0	1	0	0	0	16732	1821	63	3	34605	3	TTN	2	179437337	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	37117	179437337	63762036	192	52403											
TTN	7273	broad.mit.edu	37	chr2	179454780	179454780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgatggctgaaccttgggCatgtccactgctgttcttag	11	10	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:179454780C>T	uc010zfg.1	-	253	54192	c.53968G>A	c.(53968-53970)GCC>ACC	p.A17990T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A11685T|TTN_uc010zfi.1_Missense_Mutation_p.A11618T|TTN_uc010zfj.1_Missense_Mutation_p.A11493T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18917							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACCTTGGGCATGTCCACTG	0.433													T	179454780	C	T	179454780	3	4	75	1	0	0	0	0	1	0	0	0	16732	710	25	2	46543	2	TTN	2	179454780	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	17443	179454780	63744593	193	52404											
TTN	7273	broad.mit.edu	37	chr2	179469822	179469822	+	Frame_Shift_Del	DEL	T	T	-													tttgggaatgctaagctcagTttttgcctcacttcgggata							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:179469821_179469821GT>G	uc021vsy.1	-	228	46604	c.46379_46379AC>C	c.(46378-46380)actfs	p.T15460fs	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.T9155fs|TTN_uc021vta.1_Frame_Shift_Del_p.T9088fs|TTN_uc021vtb.1_Frame_Shift_Del_p.T8963fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16387	Fibronectin type-III 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTAAGCTCAGTTTTTGCCTC	0.448													-	179469822	T	-	179469822	7	5	75	1	0	1	0	1	0	0	0	0	16732	1725	60	0	53943	0	TTN	2	179469822	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	15042	179469822	63729551	194	52405											
TTN	7273	broad.mit.edu	37	chr2	179498051	179498051	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttttccacttttattagtcGagctgaaatgatacagtttt	6	7	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:179498051G>A	uc010zfg.1	-	182	35469	c.35245C>T	c.(35245-35247)CGA>TGA	p.R11749*	TTN_uc010zfh.1_Nonsense_Mutation_p.R5444*|TTN_uc010zfi.1_Nonsense_Mutation_p.R5377*|TTN_uc010zfj.1_Nonsense_Mutation_p.R5252*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12676							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R11749T(1)		ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTATTAGTCGAGCTGAAATG	0.393													A	179498051	G	A	179498051	4	1	75	1	0	0	0	0	0	1	0	0	16732	1066	37	1	65264	1	TTN	2	179498051	Nonsense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	28229	179498051	63701322	195	52406											
SSFA2	6744	broad.mit.edu	37	chr2	182784165	182784165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcacccttccgctcctccGcactcatggtacgctacctg	6	19	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:182784165G>A	uc002uoi.2	+	14	3458	c.3136G>A	c.(3136-3138)GCA>ACA	p.A1046T	SSFA2_uc002uoh.2_Missense_Mutation_p.A1046T|SSFA2_uc002uoj.2_Missense_Mutation_p.A1046T|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.A893T|SSFA2_uc002uol.2_Missense_Mutation_p.A893T|SSFA2_uc002uom.2_Missense_Mutation_p.A514T	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	1046						cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CCGCTCCTCCGCACTCATGGT	0.522													A	182784165	G	A	182784165	3	1	75	1	0	0	0	0	1	0	0	0	15182	1087	38	1	3190	1	SSFA2	2	182784165	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	3286114	182784165	60415208	196	52407											
SGOL2	151246	broad.mit.edu	37	chr2	201436289	201436289	+	Frame_Shift_Del	DEL	A	A	-													agtgaaagattccagctctgAaaaaaagagagaaagatcaa							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:201436288_201436288GA>G	uc002uvw.2	+	6	1332	c.1219_1219GA>G	c.(1219-1221)gaafs	p.E407fs	SGOL2_uc010zhd.1_Frame_Shift_Del_p.E407fs|SGOL2_uc010zhe.1_Frame_Shift_Del_p.E407fs	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	407					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTCCAGCTCTGAAAAAAAGAG	0.323													-	201436289	A	-	201436289	7	5	75	1	0	1	0	1	0	0	0	0	14217	246	9	0	1242	0	SGOL2	2	201436289	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	18652124	201436289	41763084	197	52408											
STRADB	55437	broad.mit.edu	37	chr2	202342485	202342485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagcacatcagtgcagcCgtggctgagtccagaactac	11	12	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:202342485C>T	uc002uyd.3	+	8	1057	c.692C>T	c.(691-693)CCG>CTG	p.P231L		NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	231	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			skin(2)|stomach(1)|lung(1)	4						TCAGTGCAGCCGTGGCTGAGT	0.512													T	202342485	C	T	202342485	3	4	75	1	0	0	0	0	1	0	0	0	15324	652	23	1	718	1	STRADB	2	202342485	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	906196	202342485	40856888	198	52409											
RAPH1	65059	broad.mit.edu	37	chr2	204305798	204305799	+	Frame_Shift_Ins	INS	-	-	G													gtggtggaacaactccattgINSgggggtaccaggatctgagg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:204305797_204305798T>TG	uc002vad.3	-	13	2340_2341	c.2115_2116A>CA	c.(2113-2118)cccaatfs	p.P705fs		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	705					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACAACTCCATTGGGGGGTACCA	0.614													G	204305799	-	G	204305798	7	5	75	1	0	1	1	0	0	0	0	0	13050	1335	47	0	1641	0	RAPH1	2	204305798	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	1963313	204305798	38893575	199	52410											
CPS1	1373	broad.mit.edu	37	chr2	211473216	211473216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggtcaccaagattccccGctgggatcttgaccgttttc	9	13	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:211473216G>A	uc002vee.3	+	19	2456	c.2324G>A	c.(2323-2325)CGC>CAC	p.R775H	CPS1_uc010fur.2_Missense_Mutation_p.R781H|CPS1_uc010fus.2_Missense_Mutation_p.R324H	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	775					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AAGATTCCCCGCTGGGATCTT	0.463													A	211473216	G	A	211473216	3	1	75	1	0	0	0	0	1	0	0	0	3823	1087	38	1	2420	1	CPS1	2	211473216	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	7167418	211473216	31726157	200	52411											
ERBB4	2066	broad.mit.edu	37	chr2	212426794	212426794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaggtgtggatgatccataCttgccatgatcagagcttcc	10	10	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:212426794C>T	uc002veg.1	-	20	2419	c.2321G>A	c.(2320-2322)AGT>AAT	p.S774N	ERBB4_uc002veh.1_Missense_Mutation_p.S774N|ERBB4_uc010zji.1_Missense_Mutation_p.S764N|ERBB4_uc010zjj.1_Missense_Mutation_p.S764N|ERBB4_uc010fut.1_Missense_Mutation_p.S774N	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	774	Protein kinase.|Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATGATCCATACTTGCCATGAT	0.433										TSP Lung(8;0.080)			T	212426794	C	T	212426794	3	4	75	1	0	0	0	0	1	0	0	0	5209	565	20	4	1641	4	ERBB4	2	212426794	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	953578	212426794	30772579	201	52412											
ABCA12	26154	broad.mit.edu	37	chr2	215835098	215835098	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtaagttcttctgtgcggTggggaatagttaaatttagg	14	3	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:215835098T>C	uc002vew.2	-	37	5809	c.5589A>G	c.(5587-5589)CCA>CCG	p.P1863P	ABCA12_uc002vev.2_Silent_p.P1545P|ABCA12_uc010zjn.1_Silent_p.P790P	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1863					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCTGTGCGGTGGGGAATAGT	0.353													C	215835098	T	C	215835098	2	2	75	1	0	0	0	0	0	0	0	1	30	1683	59	3		3	ABCA12	2	215835098	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	3408304	215835098	27364275	202	52413											
TNS1	7145	broad.mit.edu	37	chr2	218757703	218757703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgtagtgcatgtaagcCgcgatgacaactcctatcct	9	11	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:218757703C>T	uc002vgt.2	-	9	773	c.375G>A	c.(373-375)GCG>GCA	p.A125A	TNS1_uc002vgr.2_Silent_p.A125A|TNS1_uc002vgs.2_Silent_p.A125A|TNS1_uc010zjv.1_Silent_p.A125A|TNS1_uc010fvj.1_Silent_p.A193A|TNS1_uc010fvk.1_Silent_p.A250A|TNS1_uc002vgu.3_Silent_p.A156A	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	125	Phosphatase tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCATGTAAGCCGCGATGACAA	0.532													T	218757703	C	T	218757703	2	4	75	1	0	0	0	0	0	0	0	1	16340	639	23	1		1	TNS1	2	218757703	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2922605	218757703	24441670	203	52414											
ARPC2	10109	broad.mit.edu	37	chr2	219099093	219099093	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttattaaagagggtgtacGggagtttcttggtaaatcca	12	4	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:219099093G>T	uc002vhd.2	+	5	353	c.241G>T	c.(241-243)GGG>TGG	p.G81W	ARPC2_uc002vhe.2_Missense_Mutation_p.G81W|ARPC2_uc002vhf.2_5'Flank	NM_152862	NP_690601	O15144	ARPC2_HUMAN	actin related protein 2/3 complex subunit 2	81					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		GAGGGTGTACGGGAGTTTCTT	0.328													T	219099093	G	T	219099093	3	4	75	1	0	0	0	0	1	0	0	0	971	1116	39	5	255	5	ARPC2	2	219099093	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	341390	219099093	24100280	204	52415											
SPEG	10290	broad.mit.edu	37	chr2	220329302	220329302	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaatgagtatggtgctcgGcagtgcgaggcccgcttgga	16	9	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:220329302G>A	uc010fwg.2	+	9	2853	c.2853G>A	c.(2851-2853)CGG>CGA	p.R951R	SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Silent_p.R159R|SPEG_uc002vln.1_Silent_p.R159R|SPEG_uc002vlp.1_Silent_p.R159R|SPEG_uc002vlq.2_Silent_p.R102R	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	951	Ig-like 3.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ATGGTGCTCGGCAGTGCGAGG	0.617													A	220329302	G	A	220329302	2	1	75	1	0	0	0	0	0	0	0	1	15035	1190	42	2		2	SPEG	2	220329302	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1230209	220329302	22870071	205	52416											
SPEG	10290	broad.mit.edu	37	chr2	220342493	220342493	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgacttttatgacatccaCcaggagatcggcaggtgtgg	13	9	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:220342493C>A	uc010fwg.2	+	21	4812	c.4812C>A	c.(4810-4812)CAC>CAA	p.H1604Q		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1604	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ATGACATCCACCAGGAGATCG	0.617													A	220342493	C	A	220342493	3	1	75	1	0	0	0	0	1	0	0	0	15035	506	18	5	4906	5	SPEG	2	220342493	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	13191	220342493	22856880	206	52417											
INHA	3623	broad.mit.edu	37	chr2	220439918	220439918	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcctccggaggaaccggcTgcccatgccaactgccacag	12	16	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:220439918T>C	uc002vmk.1	+	2	915	c.771T>C	c.(769-771)GCT>GCC	p.A257A		NM_002191	NP_002182	P05111	INHA_HUMAN	inhibin alpha subunit precursor	257					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGGAACCGGCTGCCCATGCCA	0.617													C	220439918	T	C	220439918	2	2	75	1	0	0	0	0	0	0	0	1	7740	1567	55	3		3	INHA	2	220439918	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	97425	220439918	22759455	207	52418											
IRS1	3667	broad.mit.edu	37	chr2	227662289	227662289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactggacgacagactgaccGggctggtggccgaaggcgag	17	10	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:227662289G>A	uc002voh.3	-	1	1218	c.1166C>T	c.(1165-1167)CCG>CTG	p.P389L		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	389	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CAGACTGACCGGGCTGGTGGC	0.682											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	227662289	G	A	227662289	3	1	75	1	0	0	0	0	1	0	0	0	7840	1116	39	1	2566	1	IRS1	2	227662289	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	7222371	227662289	15537084	208	52419											
PSMD1	5707	broad.mit.edu	37	chr2	232011035	232011035	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactcatagcttcagctctcAtcatgatccagcagactgaa	6	13	4	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:232011035A>G	uc002vrn.1	+	18	2211	c.2080A>G	c.(2080-2082)ATC>GTC	p.I694V	PSMD1_uc002vrm.1_Missense_Mutation_p.I694V|PSMD1_uc010fxu.1_Missense_Mutation_p.I558V	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	proteasome 26S non-ATPase subunit 1	694	PC 9.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			ovary(1)|skin(1)	2		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TTCAGCTCTCATCATGATCCA	0.413													G	232011035	A	G	232011035	3	3	75	1	0	0	0	0	1	0	0	0	12692	217	8	3	2150	3	PSMD1	2	232011035	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	4348746	232011035	11188338	209	52420											
NMUR1	10316	broad.mit.edu	37	chr2	232390057	232390057	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gccaggtgcaggccatctgtCcactgtgacacgacgctcca	11	15	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:232390057C>A	uc002vry.3	-	3	1088	c.978G>T	c.(976-978)TGG>TGT	p.W326C		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	326	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			lung(3)|central_nervous_system(1)|pancreas(1)	5		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGCCATCTGTCCACTGTGACA	0.622													A	232390057	C	A	232390057	3	1	75	1	0	0	0	0	1	0	0	0	10506	856	30	5	306	5	NMUR1	2	232390057	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	379022	232390057	10809316	210	52421											
ALPI	248	broad.mit.edu	37	chr2	233321171	233321171	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctcatcctcttcctgggCgatggtgagtgagcaaggcc	12	12	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:233321171C>T	uc002vst.3	+	2	257	c.180C>T	c.(178-180)GGC>GGT	p.G60G	ALPI_uc002vsu.3_5'UTR	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	60					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TCTTCCTGGGCGATGGTGAGT	0.647													T	233321171	C	T	233321171	2	4	75	1	0	0	0	0	0	0	0	1	543	755	27	1		1	ALPI	2	233321171	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	931114	233321171	9878202	211	52422											
GIGYF2	26058	broad.mit.edu	37	chr2	233626135	233626135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgttttgaaaaaccaggacGaaaagatgtaggtaaggttc	11	5	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:233626135G>A	uc002vti.3	+	10	858	c.521G>A	c.(520-522)CGA>CAA	p.R174Q	GIGYF2_uc010zmj.1_Missense_Mutation_p.R174Q|GIGYF2_uc002vtg.2_Missense_Mutation_p.R174Q|GIGYF2_uc002vtj.3_Missense_Mutation_p.R174Q|GIGYF2_uc002vtk.3_Missense_Mutation_p.R174Q|GIGYF2_uc002vth.3_Missense_Mutation_p.R174Q|GIGYF2_uc010zmk.1_RNA	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	174	Arg-rich.				cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AAACCAGGACGAAAAGATGTA	0.378													A	233626135	G	A	233626135	3	1	75	1	0	0	0	0	1	0	0	0	6378	1058	37	1	543	1	GIGYF2	2	233626135	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	304964	233626135	9573238	212	52423											
TRPM8	79054	broad.mit.edu	37	chr2	234879010	234879011	+	Frame_Shift_Ins	INS	-	-	C													atttccattcggtgccacacINSccccccgagctggtcctgta							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:234879009_234879010A>AC	uc002vvh.3	+	16	2334_2335	c.2294_2295A>AC	c.(2293-2295)cacfs	p.H765fs	TRPM8_uc010fyj.3_Intron	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	765						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCGGTGCCACACCCCCCCGAGC	0.574													C	234879011	-	C	234879010	7	5	75	1	0	1	1	0	0	0	0	0	16589	506	18	0	2357	0	TRPM8	2	234879010	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	1252875	234879010	8320363	213	52424											
AGAP1	116987	broad.mit.edu	37	chr2	237028961	237028961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgacgaggacctgcggaCggccatcctgctgctggcac	14	16	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:237028961C>T	uc002vvs.2	+	17	2835	c.2240C>T	c.(2239-2241)ACG>ATG	p.T747M	AGAP1_uc002vvt.2_Missense_Mutation_p.T694M	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	747					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						GACCTGCGGACGGCCATCCTG	0.721													T	237028961	C	T	237028961	3	4	75	1	0	0	0	0	1	0	0	0	366	536	19	1	2306	1	AGAP1	2	237028961	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2149951	237028961	6170412	214	52425											
ASB1	51665	broad.mit.edu	37	chr2	239344627	239344627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgcctctcgcgtgggccGggcagacatcctgaaggccc	13	17	1	2	rs146985743		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:239344627G>A	uc002vyg.2	+	3	553	c.467G>A	c.(466-468)CGG>CAG	p.R156Q		NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box-containing protein	156	ANK 4.				intracellular signal transduction|negative regulation of cytokine biosynthetic process						0		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		CGCGTGGGCCGGGCAGACATC	0.547													A	239344627	G	A	239344627	3	1	75	1	0	0	0	0	1	0	0	0	1013	1116	39	1	477	1	ASB1	2	239344627	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2315666	239344627	3854746	215	52426											
HDLBP	3069	broad.mit.edu	37	chr2	242179357	242179357	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctccttctgtgcctctcGgacggcgtcctcctttccaa	8	17	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:242179357G>A	uc002waz.2	-	18	2578	c.2350C>T	c.(2350-2352)CGA>TGA	p.R784*	HDLBP_uc002wba.2_Nonsense_Mutation_p.R784*|HDLBP_uc002wbb.2_Nonsense_Mutation_p.R736*	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	784	KH 9.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TGTGCCTCTCGGACGGCGTCC	0.622													A	242179357	G	A	242179357	4	1	75	1	0	0	0	0	0	1	0	0	7025	1124	39	1	1500	1	HDLBP	2	242179357	Nonsense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2834730	242179357	1020016	216	52427											
HDLBP	3069	broad.mit.edu	37	chr2	242196134	242196134	+	Frame_Shift_Del	DEL	T	T	-													gatctggattttggttgcagTttttagctccaagtcttgca							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:242196133_242196133GT>G	uc002waz.3	-	5	712	c.539_539AC>C	c.(538-540)actfs	p.T180fs	HDLBP_uc002wba.3_Frame_Shift_Del_p.T180fs|HDLBP_uc021vzg.1_Frame_Shift_Del_p.T216fs|HDLBP_uc010fzn.1_5'UTR	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	180	KH 1.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TTTGGTTGCAGTTTTTAGCTC	0.468													-	242196134	T	-	242196134	7	5	75	1	0	1	0	1	0	0	0	0	7025	1725	60	0	3360	0	HDLBP	2	242196134	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	16777	242196134	1003239	217	52428											
CNTN6	27255	broad.mit.edu	37	chr3	1424988	1424988	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggatggtagaacctcaactgGccccaaggggaacttctctc	11	12	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:1424988G>C	uc003boz.2	+	19	2680	c.2413G>C	c.(2413-2415)GCC>CCC	p.A805P	CNTN6_uc011asj.1_Missense_Mutation_p.A733P|CNTN6_uc003bpa.2_Missense_Mutation_p.A805P	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	805	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ACCTCAACTGGCCCCAAGGGG	0.438													C	1424988	G	C	1424988	3	2	75	1	0	0	0	0	1	0	0	0	3645	1203	42	5	2483	5	CNTN6	3	1424988	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08		1424988	196597442	218	52429											
CRBN	51185	broad.mit.edu	37	chr3	3195744	3195744	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caataggaagacaagcagctActctgtaagaaaaatcttca	7	8	3	2	rs144666584		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:3195744A>G	uc003bpq.2	-	8	870	c.851T>C	c.(850-852)GTA>GCA	p.V284A	CRBN_uc003bpr.2_Missense_Mutation_p.V283A|CRBN_uc010hbw.2_Missense_Mutation_p.V284A	NM_016302	NP_057386	Q96SW2	CRBN_HUMAN	cereblon	284	Lon.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			ovary(1)	1				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		ACAAGCAGCTACTCTGTAAGA	0.343													G	3195744	A	G	3195744	3	3	75	1	0	0	0	0	1	0	0	0	3851	391	14	3	493	3	CRBN	3	3195744	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1770756	3195744	194826686	219	52430											
ITPR1	3708	broad.mit.edu	37	chr3	4747965	4747965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactggcggctctcagcccGcaatgccgcacgcagggact	13	15	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:4747965G>A	uc003bqa.2	+	37	5093	c.4745G>A	c.(4744-4746)CGC>CAC	p.R1582H	ITPR1_uc010hca.1_Missense_Mutation_p.R1567H|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.R513H	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	1591	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTCTCAGCCCGCAATGCCGCA	0.527													A	4747965	G	A	4747965	3	1	75	1	0	0	0	0	1	0	0	0	7920	1087	38	1	4910	1	ITPR1	3	4747965	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1552221	4747965	193274465	220	52431											
GRM7	2917	broad.mit.edu	37	chr3	6903381	6903381	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccaacgtgacgctgggCgcgcggatcctggacacttg	14	14	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:6903381C>T	uc003bqm.2	+	1	580	c.306C>T	c.(304-306)GGC>GGT	p.G102G	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.G102G|GRM7_uc003bql.2_Silent_p.G102G	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	102	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	TGACGCTGGGCGCGCGGATCC	0.587													T	6903381	C	T	6903381	2	4	75	1	0	0	0	0	0	0	0	1	6802	755	27	1		1	GRM7	3	6903381	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2155416	6903381	191119049	221	52432											
GRM7	2917	broad.mit.edu	37	chr3	7620324	7620324	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaatcgaaccggatgccaGgatattcccatcatcaaact	7	11	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:7620324G>A	uc003bqm.2	+	8	2005	c.1731G>A	c.(1729-1731)CAG>CAA	p.Q577Q	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.Q577Q|GRM7_uc003bql.2_Silent_p.Q577Q|GRM7_uc003bqn.1_Silent_p.Q160Q|GRM7_uc010hch.1_Silent_p.Q88Q	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	577	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	CCGGATGCCAGGATATTCCCA	0.522													A	7620324	G	A	7620324	2	1	75	1	0	0	0	0	0	0	0	1	6802	991	35	4		4	GRM7	3	7620324	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	716943	7620324	190402106	222	52433											
OXTR	5021	broad.mit.edu	37	chr3	8809146	8809146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgccgcgccctctggcGcctcggccgccgccgctgca	13	22	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:8809146G>A	uc003brc.2	-	3	1350	c.728C>T	c.(727-729)GCG>GTG	p.A243V		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	243	Cytoplasmic (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GCCCTCTGGCGCCTCGGCCGC	0.672													A	8809146	G	A	8809146	3	1	75	1	0	0	0	0	1	0	0	0	11338	1087	38	1	449	1	OXTR	3	8809146	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1188822	8809146	189213284	223	52434											
RAF1	5894	broad.mit.edu	37	chr3	12626102	12626102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcaaggatggctcggaagCgctccggttgatcttcggta	14	9	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:12626102C>T	uc003bxf.3	-	17	2273	c.1858G>A	c.(1858-1860)GCT>ACT	p.A620T	RAF1_uc011aut.1_Missense_Mutation_p.A405T|RAF1_uc011auu.1_Missense_Mutation_p.A538T	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	620					activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)	GGCTCGGAAGCGCTCCGGTTG	0.527			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome				T	12626102	C	T	12626102	3	4	75	1	0	0	0	0	1	0	0	0	13002	768	27	1	92	1	RAF1	3	12626102	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3816956	12626102	185396328	224	52435											
IQSEC1	9922	broad.mit.edu	37	chr3	12977365	12977365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcctcttgagtgaccccCgctccgagcggtcactaagg	11	15	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:12977365C>T	uc003bxt.2	-	3	1202	c.1193G>A	c.(1192-1194)CGG>CAG	p.R398Q	IQSEC1_uc003bxu.3_Missense_Mutation_p.R276Q|IQSEC1_uc011auw.1_Missense_Mutation_p.R384Q	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	398					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						GAGTGACCCCCGCTCCGAGCG	0.687													T	12977365	C	T	12977365	3	4	75	1	0	0	0	0	1	0	0	0	7817	652	23	1	2291	1	IQSEC1	3	12977365	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	351263	12977365	185045065	225	52436											
IQSEC1	9922	broad.mit.edu	37	chr3	12977560	12977560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcccccagcccgtagcCgcaggtccgactcggtgctg	13	18	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:12977560C>T	uc003bxt.2	-	3	1007	c.998G>A	c.(997-999)CGG>CAG	p.R333Q	IQSEC1_uc003bxu.3_Missense_Mutation_p.R211Q|IQSEC1_uc011auw.1_Missense_Mutation_p.R319Q	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	333					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						AGCCCGTAGCCGCAGGTCCGA	0.682													T	12977560	C	T	12977560	3	4	75	1	0	0	0	0	1	0	0	0	7817	652	23	1	2486	1	IQSEC1	3	12977560	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	195	12977560	185044870	226	52437											
IQSEC1	9922	broad.mit.edu	37	chr3	12978120	12978120	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgttcatctggtactgGcgaaacgccgtctggatggt	12	9	4	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:12978120G>A	uc003bxt.2	-	3	447	c.438C>T	c.(436-438)CGC>CGT	p.R146R	IQSEC1_uc003bxu.3_Silent_p.R24R|IQSEC1_uc011auw.1_Silent_p.R132R	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	146	IQ.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						TCTGGTACTGGCGAAACGCCG	0.582													A	12978120	G	A	12978120	2	1	75	1	0	0	0	0	0	0	0	1	7817	1190	42	2		2	IQSEC1	3	12978120	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	560	12978120	185044310	227	52438											
GALNTL2	117248	broad.mit.edu	37	chr3	16261500	16261500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatggtgttggctccttgCagtgacagccggcagcaaca	12	13	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:16261500C>T	uc003car.3	+	8	2083	c.1608C>T	c.(1606-1608)TGC>TGT	p.C536C	GALNTL2_uc003caq.3_Silent_p.C269C|GALNTL2_uc003cas.3_Silent_p.C66C	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	536	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1						TGGCTCCTTGCAGTGACAGCC	0.547													T	16261500	C	T	16261500	2	4	75	1	0	0	0	0	0	0	0	1	6222	718	25	2		2	GALNTL2	3	16261500	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3283380	16261500	181760930	228	52439											
KCNH8	131096	broad.mit.edu	37	chr3	19575103	19575103	+	Missense_Mutation	SNP	C	C	G													caggcggggctgcttataccCaagcacaactttgtagcagt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:19575103C>G	uc003cbk.1	+	16	3031	c.2836C>G	c.(2836-2838)CAA>GAA	p.Q946E	KCNH8_uc010hex.1_Missense_Mutation_p.Q407E	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	946	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						TGCTTATACCCAAGCACAACT	0.542													G	19575103	C	G	19575103	3	3	75	1	0	0	0	0	1	0	0	0	8038	595	21	5	2898	5	KCNH8	3	19575103	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3313603	19575103	178447327	229	52440	218	2									
KCNH8	131096	broad.mit.edu	37	chr3	19575113	19575113	+	Missense_Mutation	SNP	T	T	G													tgcttatacccaagcacaacTttgtagcagtaatatcacct							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:19575113T>G	uc003cbk.1	+	16	3041	c.2846T>G	c.(2845-2847)CTT>CGT	p.L949R	KCNH8_uc010hex.1_Missense_Mutation_p.L410R	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	949	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						CAAGCACAACTTTGTAGCAGT	0.542													G	19575113	T	G	19575113	3	3	75	1	0	0	0	0	1	0	0	0	8038	1609	56	5	2908	5	KCNH8	3	19575113	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	10	19575113	178447317	230	52441	218	2									
VILL	50853	broad.mit.edu	37	chr3	38035424	38035424	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtacccgagggggcttaCgggaacttttttgaggaaca	14	9	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:38035424C>T	uc003chj.2	+	3	382	c.96C>T	c.(94-96)TAC>TAT	p.Y32Y	VILL_uc003chk.1_Silent_p.Y32Y|VILL_uc003chl.2_Silent_p.Y32Y|VILL_uc010hgu.2_5'Flank	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	32	Gelsolin-like 1.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGGGGGCTTACGGGAACTTTT	0.602													T	38035424	C	T	38035424	2	4	75	1	0	0	0	0	0	0	0	1	17162	547	19	1		1	VILL	3	38035424	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	18460311	38035424	159987006	231	52442											
VILL	50853	broad.mit.edu	37	chr3	38039625	38039626	+	Frame_Shift_Ins	INS	-	-	C													gtggtcctggagttggcgacINSccccccactgacccaggacc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:38039624_38039625A>AC	uc003chj.3	+	7	1094_1095	c.808_809A>AC	c.(808-810)accfs	p.T270fs	VILL_uc003chk.1_Frame_Shift_Ins_p.T270fs|VILL_uc003chl.3_Frame_Shift_Ins_p.T270fs|VILL_uc010hgu.3_Frame_Shift_Ins_p.T100fs	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	270					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGAGTTGGCGACCCCCCCACTG	0.644													C	38039626	-	C	38039625	7	5	75	1	0	1	1	0	0	0	0	0	17162	507	18	0	835	0	VILL	3	38039625	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	4201	38039625	159982805	232	52443											
ACAA1	30	broad.mit.edu	37	chr3	38173437	38173437	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctatgctggccactgccTgtagccccgacgaacactgt	10	15	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:38173437T>C	uc003cht.2	-	4	590	c.383A>G	c.(382-384)CAG>CGG	p.Q128R	ACAA1_uc003chu.2_Missense_Mutation_p.Q128R|ACAA1_uc010hgy.2_Intron|ACAA1_uc010hgz.2_Missense_Mutation_p.Q128R|ACAA1_uc003chv.2_5'UTR	NM_001607	NP_001598	P09110	THIK_HUMAN	acetyl-Coenzyme A acyltransferase 1 isoform a	128					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GGCCACTGCCTGTAGCCCCGA	0.547											OREG0015477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	38173437	T	C	38173437	3	2	75	1	0	0	0	0	1	0	0	0	104	1580	55	3	927	3	ACAA1	3	38173437	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	133812	38173437	159848993	233	52444											
MYD88	4615	broad.mit.edu	37	chr3	38181390	38181390	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtatatcttgaagcagcagCaggaggaggctgagaagcct	14	7	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:38181390C>G	uc003chx.2	+	2	587	c.403C>G	c.(403-405)CAG>GAG	p.Q135E	ACAA1_uc003cht.2_5'Flank|ACAA1_uc003chu.2_5'Flank|ACAA1_uc010hgy.2_5'Flank|ACAA1_uc010hgz.2_5'Flank|ACAA1_uc003chv.2_5'Flank|MYD88_uc011ayh.1_Missense_Mutation_p.Q135E|MYD88_uc011ayi.1_Missense_Mutation_p.Q135E|MYD88_uc011ayj.1_Missense_Mutation_p.Q135E|MYD88_uc011ayk.1_Intron|MYD88_uc011ayl.1_Intron	NM_002468	NP_002459	Q99836	MYD88_HUMAN	myeloid differentiation primary response gene	122	Intermediate domain (By similarity).				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(93)|breast(1)	94				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GAAGCAGCAGCAGGAGGAGGC	0.572			Mis 		ABC-DLBCL								G	38181390	C	G	38181390	3	3	75	1	0	0	0	0	1	0	0	0	10023	711	25	5	409	5	MYD88	3	38181390	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	7953	38181390	159841040	234	52445											
SCN10A	6336	broad.mit.edu	37	chr3	38739984	38739984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggccaattcgggccaggCggatgactctgaagagcgtt	15	10	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:38739984C>T	uc003ciq.2	-	27	4727	c.4727G>A	c.(4726-4728)CGC>CAC	p.R1576H		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1576	IV.|Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCGGGCCAGGCGGATGACTCT	0.493													T	38739984	C	T	38739984	3	4	75	1	0	0	0	0	1	0	0	0	13912	768	27	1	1147	1	SCN10A	3	38739984	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	558594	38739984	159282446	235	52446											
XIRP1	165904	broad.mit.edu	37	chr3	39230627	39230627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgtgttctccaatggcatCcagtctccagttctcaaaga	7	13	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:39230627C>T	uc003cjk.1	-	2	531	c.310G>A	c.(310-312)GAT>AAT	p.D104N	XIRP1_uc003cji.2_Missense_Mutation_p.D104N|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	104	Xin 1.						actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCAATGGCATCCAGTCTCCAG	0.602													T	39230627	C	T	39230627	3	4	75	1	0	0	0	0	1	0	0	0	17426	855	30	4	5225	4	XIRP1	3	39230627	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	490643	39230627	158791803	236	52447											
ZNF620	253639	broad.mit.edu	37	chr3	40557736	40557736	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttccaccgacatgagaaatgTcacactggtgaaaagtcttt	8	9	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:40557736T>A	uc003ckk.2	+	5	800	c.651T>A	c.(649-651)TGT>TGA	p.C217*	ZNF620_uc003ckl.2_Nonsense_Mutation_p.C103*	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	217	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		ATGAGAAATGTCACACTGGTG	0.363													A	40557736	T	A	40557736	4	1	75	1	0	0	0	0	0	1	0	0	18041	1673	58	5	665	5	ZNF620	3	40557736	Nonsense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1327109	40557736	157464694	237	52448											
ZBTB47	92999	broad.mit.edu	37	chr3	42701038	42701038	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaacctgaagaagctggGcggcggggtgggaagaggcc	19	9	0	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:42701038G>A	uc003clu.1	+	1	165	c.63G>A	c.(61-63)GGG>GGA	p.G21G		NM_145166	NP_660149	Q9UFB7	ZBT47_HUMAN	zinc finger protein 651	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.216)		AAGAAGCTGGGCGGCGGGGTG	0.716													A	42701038	G	A	42701038	2	1	75	1	0	0	0	0	0	0	0	1	17545	1190	42	2		2	ZBTB47	3	42701038	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2143302	42701038	155321392	238	52449											
SNRK	54861	broad.mit.edu	37	chr3	43389492	43389492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcagtgagggggatggcGggggccagagcaagccaagc	20	9	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:43389492G>A	uc003cms.3	+	7	2073	c.1741G>A	c.(1741-1743)GGG>AGG	p.G581R	SNRK_uc003cmt.3_Missense_Mutation_p.G581R|SNRK_uc010hik.2_Missense_Mutation_p.G581R|SNRK_uc011azr.1_Missense_Mutation_p.G375R	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	SNF related kinase	581					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GGGGGATGGCGGGGGCCAGAG	0.662													A	43389492	G	A	43389492	3	1	75	1	0	0	0	0	1	0	0	0	14851	1116	39	1	1759	1	SNRK	3	43389492	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	688454	43389492	154632938	239	52450											
KIF15	56992	broad.mit.edu	37	chr3	44893381	44893381	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggagtctaaagcattccaGgaaaaagaacaactgagatc	9	7	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:44893381G>T	uc003cnx.3	+	33	4058	c.3909G>T	c.(3907-3909)CAG>CAT	p.Q1303H	KIF15_uc010hiq.2_Missense_Mutation_p.Q1206H|KIF15_uc010hir.2_Missense_Mutation_p.Q351H	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	1303	Potential.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AAGCATTCCAGGAAAAAGAAC	0.398													T	44893381	G	T	44893381	3	4	75	1	0	0	0	0	1	0	0	0	8277	991	35	5	4039	5	KIF15	3	44893381	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1503889	44893381	153129049	240	52451											
LIMD1	8994	broad.mit.edu	37	chr3	45637055	45637055	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcggggaccatcccctaaaTcaccgacagctctccctgag	9	16	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:45637055T>C	uc003coq.2	+	1	733	c.684T>C	c.(682-684)AAT>AAC	p.N228N		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	228					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		ATCCCCTAAATCACCGACAGC	0.637													C	45637055	T	C	45637055	2	2	75	1	0	0	0	0	0	0	0	1	8798	1432	50	3		3	LIMD1	3	45637055	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	743674	45637055	152385375	241	52452											
CCR5	1234	broad.mit.edu	37	chr3	46415362	46415362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaacgcttctgcaaatgCtgttctattttccagcaaga	7	11	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:46415362C>T	uc003cpo.3	+	3	1091	c.969C>T	c.(967-969)TGC>TGT	p.C323C	CCR5_uc010hjd.2_Silent_p.C323C	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5	323	Cytoplasmic (Potential).			C->A: Small reduction in palmitoylation. Cell surface expression reduced by 50%. Greatly reduced palmitoylation. Cell surface expression greatly reduced; when associated with A-321 or A-324. No palmitoylation. Cell surface expression greatly reduced. HIV entry reduced by 50%; when associated with A-321 and A- 324.	cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TCTGCAAATGCTGTTCTATTT	0.498													T	46415362	C	T	46415362	2	4	75	1	0	0	0	0	0	0	0	1	2944	805	28	2		2	CCR5	3	46415362	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	778307	46415362	151607068	242	52453											
PRSS50	29122	broad.mit.edu	37	chr3	46754421	46754421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccctgtgggtgtcctcCgcacacatcatctgggactt	9	14	3	0	rs138214038	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:46754421C>T	uc003cqe.1	-	5	950	c.891G>A	c.(889-891)GCG>GCA	p.A297A	PRSS50_uc003cqf.1_Silent_p.A211A	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	testes-specific protease 50 precursor	297	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity				0						GGGTGTCCTCCGCACACATCA	0.488													T	46754421	C	T	46754421	2	4	75	1	0	0	0	0	0	0	0	1	12631	639	23	1		1	PRSS50	3	46754421	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	339059	46754421	151268009	243	52454											
PRSS42	339906	broad.mit.edu	37	chr3	46871956	46871956	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacccatgtgtcattatattCacaggccaagcggcccccag	9	14	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:46871956C>T	uc011bap.1	-	5	820	c.820G>A	c.(820-822)GAA>AAA	p.E274K	PRSS42_uc003cqj.2_Silent_p.*101*	NM_182702	NP_874361	Q7Z5A4	PRS42_HUMAN	testis serine protease 2 precursor	274	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			pancreas(1)	1						TCATTATATTCACAGGCCAAG	0.473													T	46871956	C	T	46871956	3	4	75	1	0	0	0	0	1	0	0	0	12628	835	29	4	64	4	PRSS42	3	46871956	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	117535	46871956	151150474	244	52455											
MYL3	4634	broad.mit.edu	37	chr3	46901099	46901099	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaaatgtgctggagcataGgcaggaaagtttcaaagtcc	13	6	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:46901099G>T	uc003cql.1	-	4	440	c.347C>A	c.(346-348)CCT>CAT	p.P116H		NM_000258	NP_000249	P08590	MYL3_HUMAN	slow skeletal ventricular myosin alkali light	116					cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle				0				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		CTGGAGCATAGGCAGGAAAGT	0.552													T	46901099	G	T	46901099	3	4	75	1	0	0	0	0	1	0	0	0	10048	1000	35	5	252	5	MYL3	3	46901099	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	29143	46901099	151121331	245	52456											
C3orf75	54859	broad.mit.edu	37	chr3	47537654	47537654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgatcccggtggactgCgggctgcgatggtctcctcc	14	14	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:47537654C>T	uc003crk.2	-	7	825	c.706G>A	c.(706-708)GCA>ACA	p.A236T	C3orf75_uc003crj.2_Missense_Mutation_p.A163T|C3orf75_uc011bba.1_Missense_Mutation_p.A187T	NM_001031703	NP_001026873	Q0PNE2	CC075_HUMAN	transmembrane protein 103	236											0						CGGTGGACTGCGGGCTGCGAT	0.537													T	47537654	C	T	47537654	3	4	75	1	0	0	0	0	1	0	0	0	2245	768	27	1	98	1	C3orf75	3	47537654	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	636555	47537654	150484776	246	52457											
CELSR3	1951	broad.mit.edu	37	chr3	48699463	48699463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataattccccacagcagcgcGcggtgcccactcttttgcgg	10	15	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:48699463G>A	uc003cul.2	-	1	886	c.605C>T	c.(604-606)GCG>GTG	p.A202V	CELSR3_uc003cuf.1_Missense_Mutation_p.A272V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	202	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACAGCAGCGCGCGGTGCCCAC	0.637													A	48699463	G	A	48699463	3	1	75	1	0	0	0	0	1	0	0	0	3223	1087	38	1	9473	1	CELSR3	3	48699463	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1161809	48699463	149322967	247	52458											
KLHDC8B	200942	broad.mit.edu	37	chr3	49210244	49210244	+	Frame_Shift_Del	DEL	C	C	-													gcctttgcttggcaagtgttCccccccatgcccacttgccg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:49210243_49210243TC>T	uc003cwh.3	+	1	276	c.41_41TC>T	c.(40-42)ttcfs	p.F14fs	KLHDC8B_uc003cwi.1_5'Flank	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	Homo sapiens kelch domain containing 8B (KLHDC8B), mRNA.	14						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGGCAAGTGTTCCCCCCCATG	0.642													-	49210244	C	-	49210244	7	5	75	1	0	1	0	1	0	0	0	0	8363	854	30	0	44	0	KLHDC8B	3	49210244	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	510781	49210244	148812186	248	52459											
AMT	275	broad.mit.edu	37	chr3	49459831	49459831	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgacacaaggccggggggAatgcctgcaggcgaaagccc	16	12	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:49459831A>G	uc003cww.2	-	1	182	c.53T>C	c.(52-54)TTC>TCC	p.F18S	AMT_uc011bcn.1_5'UTR|AMT_uc003cwx.2_Missense_Mutation_p.F18S|AMT_uc011bco.1_Missense_Mutation_p.F18S|AMT_uc003cwy.2_5'UTR|AMT_uc011bcp.1_5'UTR|AMT_uc011bcq.1_Missense_Mutation_p.F18S|NICN1_uc003cwz.1_3'UTR	NM_000481	NP_000472	P48728	GCST_HUMAN	aminomethyltransferase isoform 1 precursor	18					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GGCCGGGGGGAATGCCTGCAG	0.657													G	49459831	A	G	49459831	3	3	75	1	0	0	0	0	1	0	0	0	589	246	9	3	1222	3	AMT	3	49459831	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	249587	49459831	148562599	249	52460											
MON1A	84315	broad.mit.edu	37	chr3	49947673	49947673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggccaggtgggctccgcGcttgcgaaggcgctcctgga	17	13	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:49947673G>A	uc003cxz.2	-	4	1675	c.1549C>T	c.(1549-1551)CGC>TGC	p.R517C	MON1A_uc003cya.2_Missense_Mutation_p.R355C|MON1A_uc003cyb.2_Missense_Mutation_p.R355C	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	MON1 homolog A isoform a	420							protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGGGCTCCGCGCTTGCGAAGG	0.617													A	49947673	G	A	49947673	3	1	75	1	0	0	0	0	1	0	0	0	9698	1087	38	1	421	1	MON1A	3	49947673	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	487842	49947673	148074757	250	52461											
GLT8D1	55830	broad.mit.edu	37	chr3	52731828	52731829	+	Frame_Shift_Ins	INS	-	-	C													ctgtttatagctgcaatggcINSccccccaagcctgtcttcag					rs115960994	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:52731827_52731828G>GC	uc003dfi.4	-	3	469_470	c.238_239C>GC	c.(238-240)gccfs	p.A80fs	GLT8D1_uc003dfk.3_Frame_Shift_Ins_p.A80fs|GLT8D1_uc003dfl.3_Frame_Shift_Ins_p.A80fs|GLT8D1_uc003dfm.3_Frame_Shift_Ins_p.A80fs|GLT8D1_uc003dfn.3_Frame_Shift_Ins_p.A80fs	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 1 (GLT8D1), transcript variant 1, mRNA.	80						integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGCTGCAATGGCCCCCCCAAGC	0.485													C	52731829	-	C	52731828	7	5	75	1	0	1	1	0	0	0	0	0	6469	739	26	0	905	0	GLT8D1	3	52731828	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	2784155	52731828	145290602	251	52462											
SPCS1	28972	broad.mit.edu	37	chr3	52740186	52740186	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgccagaccttaccccTcacggtccttaagtctcggt	9	15	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:52740186T>G	uc011bei.1	+	1	330	c.125T>G	c.(124-126)CTC>CGC	p.L42R	GLT8D1_uc003dfi.3_5'Flank|GLT8D1_uc003dfj.2_5'Flank|GLT8D1_uc003dfk.2_5'Flank|GLT8D1_uc003dfl.2_5'Flank|GLT8D1_uc003dfm.2_5'Flank|GLT8D1_uc003dfn.2_5'Flank|GLT8D1_uc003dfo.1_5'Flank|GLT8D1_uc010hmm.1_5'Flank	NM_014041	NP_054760	Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog	42	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to endoplasmic reticulum membrane|microsome|signal peptidase complex	peptidase activity				0				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		ACCTTACCCCTCACGGTCCTT	0.692													G	52740186	T	G	52740186	3	3	75	1	0	0	0	0	1	0	0	0	15022	1551	54	5	127	5	SPCS1	3	52740186	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	8358	52740186	145282244	252	52463											
SPCS1	28972	broad.mit.edu	37	chr3	52741730	52741730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcctccatggcccatctatCgccggcatcctctcaagtgg	8	16	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:52741730C>T	uc011bei.1	+	4	617	c.412C>T	c.(412-414)CGC>TGC	p.R138C	GLT8D1_uc003dfj.2_5'Flank|GLT8D1_uc003dfk.2_5'Flank|GLT8D1_uc003dfl.2_5'Flank|GLT8D1_uc003dfm.2_5'Flank|GLT8D1_uc003dfn.2_5'Flank|GLT8D1_uc003dfo.1_5'Flank|GLT8D1_uc010hmm.1_5'Flank	NM_014041	NP_054760	Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog	138	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to endoplasmic reticulum membrane|microsome|signal peptidase complex	peptidase activity				0				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		GCCCATCTATCGCCGGCATCC	0.403													T	52741730	C	T	52741730	3	4	75	1	0	0	0	0	1	0	0	0	15022	884	31	1	426	1	SPCS1	3	52741730	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1544	52741730	145280700	253	52464											
SFMBT1	51460	broad.mit.edu	37	chr3	52962274	52962274	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaagatgccaggactgtcGgcgtggcacacaaaggatcg	16	9	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:52962274G>A	uc003dgf.2	-	10	1550	c.981C>T	c.(979-981)GCC>GCT	p.A327A	SFMBT1_uc010hmr.2_Silent_p.A274A|SFMBT1_uc003dgg.2_Silent_p.A327A|SFMBT1_uc003dgh.2_Silent_p.A327A	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	327	MBT 3.				regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CAGGACTGTCGGCGTGGCACA	0.502													A	52962274	G	A	52962274	2	1	75	1	0	0	0	0	0	0	0	1	14157	1103	39	1		1	SFMBT1	3	52962274	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	220544	52962274	145060156	254	52465											
ERC2	26059	broad.mit.edu	37	chr3	55922464	55922464	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcctctcaatccggagGttggccaagtgcgcttcttt	9	13	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:55922464G>A	uc003dhr.1	-	14	2773	c.2517C>T	c.(2515-2517)AAC>AAT	p.N839N	ERC2_uc003dhq.1_RNA|ERC2_uc003dht.1_Silent_p.N318N	NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	839	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CAATCCGGAGGTTGGCCAAGT	0.542													A	55922464	G	A	55922464	2	1	75	1	0	0	0	0	0	0	0	1	5211	1252	44	4		4	ERC2	3	55922464	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2960190	55922464	142099966	255	52466											
C3orf67	200844	broad.mit.edu	37	chr3	58817526	58817526	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcccagcatcctccagTtcttcattttgttgccaccg	8	14	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:58817526T>G	uc003dkt.1	-	13	1717	c.1308A>C	c.(1306-1308)GAA>GAC	p.E436D	C3orf67_uc003dkr.1_RNA|C3orf67_uc003dks.1_Missense_Mutation_p.E377D|uc003dku.1_Intron	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	hypothetical protein LOC200844	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment											0		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CATCCTCCAGTTCTTCATTTT	0.512													G	58817526	T	G	58817526	3	3	75	1	0	0	0	0	1	0	0	0	2241	1722	60	5	399	5	C3orf67	3	58817526	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	2895062	58817526	139204904	256	52467											
FAM19A4	151647	broad.mit.edu	37	chr3	68802150	68802150	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgaccacctcacaggtcccTtgcttgatttggtggtgacc	11	13	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:68802150T>G	uc003dnh.1	-	4	593	c.150A>C	c.(148-150)CAA>CAC	p.Q50H	FAM19A4_uc003dni.1_Missense_Mutation_p.Q50H	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine	50						extracellular region				skin(2)	2		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		CACAGGTCCCTTGCTTGATTT	0.502													G	68802150	T	G	68802150	3	3	75	1	0	0	0	0	1	0	0	0	5534	1606	56	5	284	5	FAM19A4	3	68802150	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	9984624	68802150	129220280	257	52468											
LMOD3	56203	broad.mit.edu	37	chr3	69168250	69168250	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccccaacccattctctaacAtggctatcagcttcttctgt	5	15	4	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:69168250A>G	uc003dns.2	-	2	1465	c.1256T>C	c.(1255-1257)ATG>ACG	p.M419T	LMOD3_uc003dnt.2_Missense_Mutation_p.M419T	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	419	Potential.					cytoplasm|cytoskeleton	tropomyosin binding			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		ATTCTCTAACATGGCTATCAG	0.517													G	69168250	A	G	69168250	3	3	75	1	0	0	0	0	1	0	0	0	8858	217	8	3	434	3	LMOD3	3	69168250	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	366100	69168250	128854180	258	52469											
GPR27	2850	broad.mit.edu	37	chr3	71804103	71804103	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctctgggggccctacgtCgtggccagctacctgcgggt	14	15	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:71804103C>T	uc011bge.1	+	1	903	c.903C>T	c.(901-903)GTC>GTT	p.V301V	EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_5'Flank|EIF4E3_uc010hoc.2_5'Flank	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	301	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		GGCCCTACGTCGTGGCCAGCT	0.642													T	71804103	C	T	71804103	2	4	75	1	0	0	0	0	0	0	0	1	6685	871	31	1		1	GPR27	3	71804103	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2635853	71804103	126218327	259	52470											
RYBP	23429	broad.mit.edu	37	chr3	72428231	72428231	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggtctttgttgtagcatTtgcagactgtatgctgtttg	12	6	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:72428231T>C	uc003dpe.2	-	3	481	c.364A>G	c.(364-366)AAT>GAT	p.N122D		NM_012234	NP_036366	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	132					apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding				0		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		GTTGTAGCATTTGCAGACTGT	0.358													C	72428231	T	C	72428231	3	2	75	1	0	0	0	0	1	0	0	0	13766	1841	64	3	300	3	RYBP	3	72428231	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	624128	72428231	125594199	260	52471											
PDZRN3	23024	broad.mit.edu	37	chr3	73437222	73437223	+	Splice_Site	INS	-	-	T													cacctctatcccattaatctINStttaaaaaaaaagggggggt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:73437221_73437222C>CT	uc003dpl.1	-	8	1513	c.1417_splice	c.e8-1	p.I473_splice	PDZRN3_uc011bgh.1_Splice_Site_p.I130_splice|PDZRN3_uc010hoe.1_Splice_Site_p.I171_splice|PDZRN3_uc011bgf.1_Splice_Site_p.I190_splice|PDZRN3_uc011bgg.1_Splice_Site_p.I193_splice	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	473	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCCCATTAATCTTTTAAAAAAA	0.416													T	73437223	-	T	73437222	8	5	75	1	0	1	1	0	0	0	1	0	11709	1623	56	0	1797	0	PDZRN3	3	73437222	Splice_Site	INS	-	TCGA-BR-8363-01A-11D-2340-08	1008991	73437222	124585208	261	52472											
ROBO2	6092	broad.mit.edu	37	chr3	77147246	77147246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtctctaagggcgagcccaCgactctgaactgcaaggcgg	13	13	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:77147246C>T	uc003dpy.3	+	2	786	c.143C>T	c.(142-144)ACG>ATG	p.T48M	ROBO2_uc003dpz.2_Missense_Mutation_p.T48M|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.T48M	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	48	Ig-like C2-type 1.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.T48K(1)		lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGCGAGCCCACGACTCTGAAC	0.592													T	77147246	C	T	77147246	3	4	75	1	0	0	0	0	1	0	0	0	13514	536	19	1	151	1	ROBO2	3	77147246	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3710024	77147246	120875184	262	52473											
MINA	84864	broad.mit.edu	37	chr3	97686125	97686125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcttcccattgacacAccggcagacattcacatctc	4	16	4	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:97686125A>G	uc003drz.1	-	2	819	c.313T>C	c.(313-315)TGT>CGT	p.C105R	MINA_uc003dsa.1_Missense_Mutation_p.C105R|MINA_uc003dsb.1_Missense_Mutation_p.C105R|MINA_uc003dsc.1_Missense_Mutation_p.C105R|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_Intron	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen isoform a	105					ribosome biogenesis	cytoplasm|nucleolus				ovary(1)	1						CCATTGACACACCGGCAGACA	0.443													G	97686125	A	G	97686125	3	3	75	1	0	0	0	0	1	0	0	0	9586	159	6	3	1120	3	MINA	3	97686125	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	20538879	97686125	100336305	263	52474											
OR5H1	26341	broad.mit.edu	37	chr3	97852335	97852335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgtgggccctgcatctcCgcaagcagatgatcaagata	10	10	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:97852335C>T	uc011bgt.1	+	1	794	c.794C>T	c.(793-795)CCG>CTG	p.P265L		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H,	265	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						CCTGCATCTCCGCAAGCAGAT	0.433													T	97852335	C	T	97852335	3	4	75	1	0	0	0	0	1	0	0	0	11159	652	23	1	796	1	OR5H1	3	97852335	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	166210	97852335	100170095	264	52475											
FILIP1L	11259	broad.mit.edu	37	chr3	99568273	99568273	+	Frame_Shift_Del	DEL	T	T	-													ctgttttcttgttgatttagTtttttttgcaggactgagtg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:99568272_99568272GT>G	uc003dtm.3	-	4	2711	c.2248_2248AC>C	c.(2248-2250)ctafs	p.L750fs	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Frame_Shift_Del_p.L750fs|FILIP1L_uc010hpf.3_Frame_Shift_Del_p.L326fs|FILIP1L_uc010hpg.3_Frame_Shift_Del_p.L510fs|FILIP1L_uc003dtn.3_Frame_Shift_Del_p.L510fs|FILIP1L_uc021xbr.1_Frame_Shift_Del_p.L510fs|FILIP1L_uc003dtp.1_Frame_Shift_Del_p.L510fs	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	750						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGTTGATTTAGTTTTTTTTGC	0.403													-	99568273	T	-	99568273	7	5	75	1	0	1	0	1	0	0	0	0	5895	1722	60	0	1189	0	FILIP1L	3	99568273	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	1715938	99568273	98454157	265	52476											
FILIP1L	11259	broad.mit.edu	37	chr3	99569707	99569707	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaagggctagtttggtAtgtgtttcctttgcatttgt	11	6	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:99569707A>G	uc003dtm.2	-	5	1276	c.813T>C	c.(811-813)CAT>CAC	p.H271H	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Silent_p.H271H|FILIP1L_uc010hpf.2_Intron|FILIP1L_uc010hpg.2_Silent_p.H31H|FILIP1L_uc003dtn.2_Silent_p.H31H|FILIP1L_uc003dtp.1_Silent_p.H31H	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	271	Potential.					cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						CTAGTTTGGTATGTGTTTCCT	0.483													G	99569707	A	G	99569707	2	3	75	1	0	0	0	0	0	0	0	1	5895	446	16	3		3	FILIP1L	3	99569707	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1434	99569707	98452723	266	52477											
BBX	56987	broad.mit.edu	37	chr3	107491837	107491837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataataattagtgatgttccCagtagaaaggatcatatgtg	9	4	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:107491837C>T	uc010hpr.2	+	11	1596	c.1269C>T	c.(1267-1269)CCC>CCT	p.P423P	BBX_uc003dwk.3_Silent_p.P423P|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Silent_p.P444P|BBX_uc003dwm.3_Silent_p.P423P|BBX_uc003dwo.3_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GTGATGTTCCCAGTAGAAAGG	0.338													T	107491837	C	T	107491837	2	4	75	1	0	0	0	0	0	0	0	1	1343	581	21	4		4	BBX	3	107491837	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	7922130	107491837	90530593	267	52478											
MYH15	22989	broad.mit.edu	37	chr3	108124288	108124288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaatcttgctttcattacGttccagggctccctggaata	8	10	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:108124288G>A	uc003dxa.1	-	34	4750	c.4693C>T	c.(4693-4695)CGT>TGT	p.R1565C		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1565	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						CTTTCATTACGTTCCAGGGCT	0.333													A	108124288	G	A	108124288	3	1	75	1	0	0	0	0	1	0	0	0	10034	1145	40	1	1183	1	MYH15	3	108124288	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	632451	108124288	89898142	268	52479											
MYH15	22989	broad.mit.edu	37	chr3	108129761	108129761	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcttcggctgcctcctgcaaTctaattgccagttccttcct	7	15	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:108129761T>A	uc003dxa.1	-	32	4281	c.4224A>T	c.(4222-4224)AGA>AGT	p.R1408S		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1408	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						CCTCCTGCAATCTAATTGCCA	0.552													A	108129761	T	A	108129761	3	1	75	1	0	0	0	0	1	0	0	0	10034	1432	50	5	1660	5	MYH15	3	108129761	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	5473	108129761	89892669	269	52480											
SLC35A5	55032	broad.mit.edu	37	chr3	112282265	112282265	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtggaatggaaaaacagtgCtgtagtcatcctgtaatatg	11	5	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:112282265C>A	uc003dze.2	+	2	260	c.15C>A	c.(13-15)TGC>TGA	p.C5*	ATG3_uc003dzd.2_5'Flank|ATG3_uc003dzc.2_5'Flank|ATG3_uc010hqe.2_5'Flank	NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	5						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1						AAAAACAGTGCTGTAGTCATC	0.383													A	112282265	C	A	112282265	4	1	75	1	0	0	0	0	0	1	0	0	14574	805	28	5	17	5	SLC35A5	3	112282265	Nonsense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	4152504	112282265	85740165	270	52481											
KIAA1407	57577	broad.mit.edu	37	chr3	113729626	113729626	+	Frame_Shift_Del	DEL	T	T	-													aaaaacaacgtacctgtccaTtttttactggtggacccacc					rs35258202		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:113729625_113729625AT>A	uc003eax.3	-	8	1554	c.1407_1407AT>T	c.(1405-1407)aatfs	p.N469fs	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Frame_Shift_Del_p.N447fs|KIAA1407_uc011bip.1_Frame_Shift_Del_p.N456fs	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	469										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GTACCTGTCCATTTTTTACTG	0.468													-	113729626	T	-	113729626	7	5	75	1	0	1	0	1	0	0	0	0	8229	1493	52	0	1440	0	KIAA1407	3	113729626	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	1447361	113729626	84292804	271	52482											
LSAMP	4045	broad.mit.edu	37	chr3	115561349	115561349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcaggtgcaggcactgcCgaggcctcacatttgagtga	13	10	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:115561349C>T	uc003ebt.2	-	5	1226	c.726G>A	c.(724-726)TCG>TCA	p.S242S	LSAMP_uc011bis.1_Silent_p.S242S	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	242	Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane					0		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CAGGCACTGCCGAGGCCTCAC	0.547													T	115561349	C	T	115561349	2	4	75	1	0	0	0	0	0	0	0	1	9048	639	23	1		1	LSAMP	3	115561349	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1831723	115561349	82461081	272	52483											
B4GALT4	8702	broad.mit.edu	37	chr3	118943093	118943093	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaaactttttaccttcagcCtagagatatgaaaattaaaa	4	6	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:118943093C>A	uc003ecg.2	-	5	1128	c.487_splice	c.e5-1	p.A163_splice	B4GALT4_uc003ece.1_Splice_Site_p.A163_splice|B4GALT4_uc003ecf.2_Splice_Site|B4GALT4_uc003ech.2_Splice_Site_p.A163_splice|B4GALT4_uc003eci.2_Splice_Site_p.A163_splice|B4GALT4_uc011biy.1_Splice_Site	NM_212543	NP_997708	O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-						membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity				0				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	TACCTTCAGCCTAGAGATATG	0.358													A	118943093	C	A	118943093	5	1	75	1	0	0	0	0	0	0	1	0	1273	695	24	5	564	5	B4GALT4	3	118943093	Splice_Site	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3381744	118943093	79079337	273	52484											
ARHGAP31	57514	broad.mit.edu	37	chr3	119133473	119133473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtgacagacattgcccaGcatggcctggagatggtgga	14	9	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:119133473G>A	uc003ecj.3	+	12	3229	c.2697G>A	c.(2695-2697)CAG>CAA	p.Q899Q		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	899					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						ACATTGCCCAGCATGGCCTGG	0.572													A	119133473	G	A	119133473	2	1	75	1	0	0	0	0	0	0	0	1	880	962	34	2		2	ARHGAP31	3	119133473	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	190380	119133473	78888957	274	52485											
C3orf15	89876	broad.mit.edu	37	chr3	119466108	119466108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgcttatgaaatggaaagCcggtgtgtatcaagagaaca	11	5	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:119466108C>T	uc003ede.3	+	15	2126	c.2049C>T	c.(2047-2049)AGC>AGT	p.S683S	C3orf15_uc010hqz.2_Silent_p.S621S|C3orf15_uc011bjd.1_Silent_p.S557S|C3orf15_uc011bje.1_Silent_p.S663S|C3orf15_uc003edg.3_5'Flank	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	519	Potential.					mitochondrion	protein binding	p.S683N(1)		ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)		AAATGGAAAGCCGGTGTGTAT	0.388													T	119466108	C	T	119466108	2	4	75	1	0	0	0	0	0	0	0	1	2209	738	26	2		2	C3orf15	3	119466108	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	332635	119466108	78556322	275	52486											
GPR156	165829	broad.mit.edu	37	chr3	119887170	119887170	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcactcagctgacatcagcCtcacaatcttctctttggcg	7	14	5	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:119887170C>A	uc011bjf.1	-	9	1154	c.1154G>T	c.(1153-1155)AGG>ATG	p.R385M	GPR156_uc011bjg.1_Missense_Mutation_p.R381M	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	385	Cytoplasmic (Potential).|Potential.					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.19)		TGACATCAGCCTCACAATCTT	0.517													A	119887170	C	A	119887170	3	1	75	1	0	0	0	0	1	0	0	0	6661	681	24	5	1294	5	GPR156	3	119887170	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	421062	119887170	78135260	276	52487											
GOLGB1	2804	broad.mit.edu	37	chr3	121416804	121416805	+	Frame_Shift_Ins	INS	-	-	C													atatgccttacacgttctgcINScccctcaagcacttcacttt					rs146271119	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:121416803_121416804G>GC	uc010hrc.3	-	12	2692_2693	c.2566_2567C>GC	c.(2566-2568)gcafs	p.A856fs	GOLGB1_uc003eei.4_Frame_Shift_Ins_p.A851fs|GOLGB1_uc003eej.4_Frame_Shift_Ins_p.A817fs|GOLGB1_uc021xcy.1_Frame_Shift_Ins_p.A776fs|GOLGB1_uc011bjm.1_Frame_Shift_Ins_p.A737fs|GOLGB1_uc010hrd.1_Frame_Shift_Ins_p.A815fs	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	851					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TACACGTTCTGCCCCCTCAAGC	0.441													C	121416805	-	C	121416804	7	5	75	1	0	1	1	0	0	0	0	0	6565	739	26	0	7268	0	GOLGB1	3	121416804	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	1529634	121416804	76605626	277	52488											
PARP14	54625	broad.mit.edu	37	chr3	122418640	122418640	+	Frame_Shift_Del	DEL	A	A	-													ccaacaatgtgggacaccatAaaaaatgatgtgaaagatga							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:122418639_122418639TA>T	uc003efq.4	+	5	1297	c.1238_1238TA>T	c.(1237-1239)atafs	p.I413fs	PARP14_uc021xdc.1_Frame_Shift_Del_p.I277fs|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Frame_Shift_Del_p.I130fs|PARP14_uc003efs.1_Frame_Shift_Del_p.I130fs	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGGGACACCATAAAAAATGAT	0.393													-	122418640	A	-	122418640	7	5	75	1	0	1	0	1	0	0	0	0	11458	352	13	0	1261	0	PARP14	3	122418640	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	1001836	122418640	75603790	278	52489											
HSPBAP1	79663	broad.mit.edu	37	chr3	122471515	122471515	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagtgtctgggaacaaAgagaacctgaaaaccaaaca	8	11	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:122471515A>G	uc003efu.1	-	6	871	c.748T>C	c.(748-750)TTT>CTT	p.F250L		NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Hspb associated protein 1	250	JmjC.					cytoplasm				ovary(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.0531)		CTGGGAACAAAGAGAACCTGA	0.383													G	122471515	A	G	122471515	3	3	75	1	0	0	0	0	1	0	0	0	7425	72	3	3	730	3	HSPBAP1	3	122471515	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	52875	122471515	75550915	279	52490											
SLC12A8	84561	broad.mit.edu	37	chr3	124811006	124811006	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaagtggatcttctccagAcatcttgttcttggagcctg	10	9	4	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:124811006A>G	uc003ehv.3	-	11	1853	c.1742T>C	c.(1741-1743)GTC>GCC	p.V581A	SLC12A8_uc003ehw.3_Missense_Mutation_p.V610A|SLC12A8_uc003eht.3_Missense_Mutation_p.V382A|SLC12A8_uc003ehu.3_Missense_Mutation_p.V334A|SLC12A8_uc010hry.2_Intron	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	581					potassium ion transport	integral to membrane	symporter activity				0						TCTTCTCCAGACATCTTGTTC	0.428													G	124811006	A	G	124811006	3	3	75	1	0	0	0	0	1	0	0	0	14389	275	10	3	418	3	SLC12A8	3	124811006	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	2339491	124811006	73211424	280	52491											
OSBPL11	114885	broad.mit.edu	37	chr3	125266321	125266321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatatccagtttttgcacaGttgacactgactttgccacc	7	11	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:125266321G>A	uc003eic.2	-	10	2507	c.1770C>T	c.(1768-1770)AAC>AAT	p.N590N		NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	590					lipid transport		lipid binding			ovary(3)|breast(1)|kidney(1)	5						TTTTTGCACAGTTGACACTGA	0.418													A	125266321	G	A	125266321	2	1	75	1	0	0	0	0	0	0	0	1	11276	1020	36	4		4	OSBPL11	3	125266321	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	455315	125266321	72756109	281	52492											
ROPN1B	152015	broad.mit.edu	37	chr3	125691012	125691012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctcatccagtggggggccGagtacgtgctcctttctcgc	12	14	2	0	rs143434891		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:125691012G>A	uc003eih.2	+	2	343	c.115G>A	c.(115-117)GAT>AAT	p.D39N	ROPN1B_uc010hsb.2_Missense_Mutation_p.D39N|ROPN1B_uc011bkg.1_Missense_Mutation_p.D39N	NM_001012337	NP_001012337	Q9BZX4	ROP1B_HUMAN	ropporin, rhophilin associated protein 1B	39	RIIa.				acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity				0				GBM - Glioblastoma multiforme(114;0.151)		GTGGGGGGCCGAGTACGTGCT	0.627													A	125691012	G	A	125691012	3	1	75	1	0	0	0	0	1	0	0	0	13524	1072	37	1	117	1	ROPN1B	3	125691012	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	424691	125691012	72331418	282	52493											
PLXNA1	5361	broad.mit.edu	37	chr3	126707946	126707946	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaggcaggcagcatggcGggcgtgctcattgccgggcc	18	12	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:126707946G>A	uc003ejg.2	+	1	445	c.441G>A	c.(439-441)GCG>GCA	p.A147A		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	170	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		GCAGCATGGCGGGCGTGCTCA	0.637													A	126707946	G	A	126707946	2	1	75	1	0	0	0	0	0	0	0	1	12119	1103	39	1		1	PLXNA1	3	126707946	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1016934	126707946	71314484	283	52494											
PLXNA1	5361	broad.mit.edu	37	chr3	126735448	126735448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaacatcaaccgcgcccagCtcaccaaccctgaggtgaag	8	16	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:126735448C>A	uc003ejg.2	+	15	3038	c.3034C>A	c.(3034-3036)CTC>ATC	p.L1012I		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1035	IPT/TIG 2.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CCGCGCCCAGCTCACCAACCC	0.632													A	126735448	C	A	126735448	3	1	75	1	0	0	0	0	1	0	0	0	12119	797	28	5	3161	5	PLXNA1	3	126735448	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	27502	126735448	71286982	284	52495											
RHO	6010	broad.mit.edu	37	chr3	129251458	129251458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatcatcatggtcatcgCtttcctgatctgctgggtgc	11	11	5	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:129251458C>T	uc003emt.2	+	4	874	c.779C>T	c.(778-780)GCT>GTT	p.A260V		NM_000539	NP_000530	P08100	OPSD_HUMAN	rhodopsin	260	Helical; Name=6; (Potential).				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding				0		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	ATGGTCATCGCTTTCCTGATC	0.602													T	129251458	C	T	129251458	3	4	75	1	0	0	0	0	1	0	0	0	13330	797	28	2	793	2	RHO	3	129251458	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2516010	129251458	68770972	285	52496											
ATP2C1	27032	broad.mit.edu	37	chr3	130649322	130649323	+	Frame_Shift_Ins	INS	-	-	A													tgattcctgtattgacatcaINSaaaaaagcaagtgaattacc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:130649321_130649322C>CA	uc011bli.2	+	1	466_467	c.170_171C>CA	c.(169-171)tcafs	p.S57fs	ATP2C1_uc011blg.2_Frame_Shift_Ins_p.S57fs|ATP2C1_uc011blh.2_Frame_Shift_Ins_p.S57fs|ATP2C1_uc003enk.3_Frame_Shift_Ins_p.S7fs|ATP2C1_uc003enl.3_Frame_Shift_Ins_p.S23fs|ATP2C1_uc003enm.3_Frame_Shift_Ins_p.S23fs|ATP2C1_uc003enn.3_Frame_Shift_Ins_p.S7fs|ATP2C1_uc003eno.3_Frame_Shift_Ins_p.S23fs|ATP2C1_uc003enp.3_Frame_Shift_Ins_p.S23fs|ATP2C1_uc003ent.3_Frame_Shift_Ins_p.S23fs|ATP2C1_uc003ens.3_Frame_Shift_Ins_p.S23fs	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	23					ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	p.S23S(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GTATTGACATCAAAAAAAGCAA	0.361									Hailey-Hailey disease				A	130649323	-	A	130649322	7	5	75	1	0	1	1	0	0	0	0	0	1143	117	5	0	75	0	ATP2C1	3	130649322	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	1397864	130649322	67373108	286	52497											
CEP63	80254	broad.mit.edu	37	chr3	134251733	134251733	+	Frame_Shift_Del	DEL	A	A	-													gaaattgagaggttaactgcAaaaatagaggtatgttcata							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:134251732_134251732CA>C	uc003eqo.1	+	5	880	c.431_431CA>C	c.(430-432)gcafs	p.A144fs	CEP63_uc003eql.1_Frame_Shift_Del_p.A144fs|CEP63_uc003eqm.3_Frame_Shift_Del_p.A144fs|CEP63_uc003eqn.1_Frame_Shift_Del_p.A144fs	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	144					DNA damage checkpoint|G2/M transition of mitotic cell cycle|cell division|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGGTTAACTGCAAAAATAGAG	0.363													-	134251733	A	-	134251733	7	5	75	1	0	1	0	1	0	0	0	0	3257	117	5	0	446	0	CEP63	3	134251733	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	3602411	134251733	63770697	287	52498											
ESYT3	83850	broad.mit.edu	37	chr3	138193142	138193142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaaaggaagtgggcatgtCgtaagaagacttcagtgaag	14	5	1	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:138193142C>T	uc003esk.2	+	20	2642	c.2416C>T	c.(2416-2418)CGT>TGT	p.R806C		NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	806	C2 3.					integral to membrane|plasma membrane					0						GTGGGCATGTCGTAAGAAGAC	0.468													T	138193142	C	T	138193142	3	4	75	1	0	0	0	0	1	0	0	0	5266	884	31	1	2494	1	ESYT3	3	138193142	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3941409	138193142	59829288	288	52499											
NMNAT3	349565	broad.mit.edu	37	chr3	139279984	139279984	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttacgctctgcccttggccCaaggctcgcctgatgtatgt	10	13	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:139279984C>A	uc003etj.2	-	4	667	c.627G>T	c.(625-627)TTG>TTT	p.L209F	NMNAT3_uc003etk.2_Missense_Mutation_p.L172F|NMNAT3_uc003etl.2_RNA|NMNAT3_uc010hul.2_Missense_Mutation_p.L120F	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	nicotinamide mononucleotide adenylyltransferase	209					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity				0						GCCCTTGGCCCAAGGCTCGCC	0.537													A	139279984	C	A	139279984	3	1	75	1	0	0	0	0	1	0	0	0	10500	593	21	5	135	5	NMNAT3	3	139279984	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1086842	139279984	58742446	289	52500											
TRIM42	287015	broad.mit.edu	37	chr3	140409957	140409957	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atctggagctgcacaacctgAcccccaacacagaatacgtg	8	14	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:140409957A>C	uc003eto.1	+	4	2199	c.2008A>C	c.(2008-2010)ACC>CCC	p.T670P		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	670	Fibronectin type-III.					intracellular	zinc ion binding			lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						GCACAACCTGACCCCCAACAC	0.428													C	140409957	A	C	140409957	3	2	75	1	0	0	0	0	1	0	0	0	16514	275	10	5	2022	5	TRIM42	3	140409957	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1129973	140409957	57612473	290	52501											
ZBTB38	253461	broad.mit.edu	37	chr3	141162696	141162696	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggagaagaacatatcCttgccattactgcaacaaag	7	11	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:141162696C>A	uc003etw.2	+	8	2448	c.1466C>A	c.(1465-1467)CCT>CAT	p.P489H	ZBTB38_uc010hun.2_Missense_Mutation_p.P486H|ZBTB38_uc010huo.2_Missense_Mutation_p.P489H|ZBTB38_uc003ety.2_Missense_Mutation_p.P489H|ZBTB38_uc010hup.2_Missense_Mutation_p.P490H	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	489	C2H2-type 4.				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						AGAACATATCCTTGCCATTAC	0.433													A	141162696	C	A	141162696	3	1	75	1	0	0	0	0	1	0	0	0	17536	681	24	5	1468	5	ZBTB38	3	141162696	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	752739	141162696	56859734	291	52502											
PCOLCE2	26577	broad.mit.edu	37	chr3	142539750	142539750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagggcactgcttgcagaCgacagtcagcctggcactca	13	12	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:142539750C>T	uc003evd.2	-	8	1283	c.1087G>A	c.(1087-1089)GTC>ATC	p.V363I		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	363	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity			ovary(2)|skin(1)	3						TGCTTGCAGACGACAGTCAGC	0.522													T	142539750	C	T	142539750	3	4	75	1	0	0	0	0	1	0	0	0	11595	536	19	1	168	1	PCOLCE2	3	142539750	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1377054	142539750	55482680	292	52503											
SR140	23350	broad.mit.edu	37	chr3	142773855	142773855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgagtgaaatccccatcaCcaaaatcggagcgatcagag	10	11	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:142773855C>T	uc003evh.1	+	27	2944	c.2845C>T	c.(2845-2847)CCA>TCA	p.P949S	SR140_uc003evi.1_Missense_Mutation_p.P540S|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.P948S	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	949	Arg/Ser-rich.				RNA processing	nucleus	nucleotide binding|RNA binding				0						ATCCCCATCACCAAAATCGGA	0.483													T	142773855	C	T	142773855	3	4	75	1	0	0	0	0	1	0	0	0	15130	507	18	4	2951	4	SR140	3	142773855	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	234105	142773855	55248575	293	52504											
SLC9A9	285195	broad.mit.edu	37	chr3	143567076	143567076	+	Frame_Shift_Del	DEL	A	A	-													tcaaaatggtaaggatgagcAaaaaattgaagacaagcagc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:143567075_143567075CA>C	uc003evn.3	-	0	299	c.90_90TG>G	c.(88-90)ttgfs	p.L30fs	SLC9A9_uc011bnk.2_5'UTR	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	30					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TAAGGATGAGCAAAAAATTGA	0.413													-	143567076	A	-	143567076	7	5	75	1	0	1	0	1	0	0	0	0	14721	131	5	0	1912	0	SLC9A9	3	143567076	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	793221	143567076	54455354	294	52505											
C3orf58	205428	broad.mit.edu	37	chr3	143691683	143691683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcggacctggtgcactGcccctcgcagcgccttctcg	12	17	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:143691683G>A	uc003evo.2	+	1	1044	c.509G>A	c.(508-510)TGC>TAC	p.C170Y	C3orf58_uc011bnl.1_5'Flank	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	hypothetical protein LOC205428 isoform a	170						COPI vesicle coat|extracellular region				ovary(1)	1						CTGGTGCACTGCCCCTCGCAG	0.701													A	143691683	G	A	143691683	3	1	75	1	0	0	0	0	1	0	0	0	2236	1319	46	2	511	2	C3orf58	3	143691683	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	124607	143691683	54330747	295	52506											
ZIC1	7545	broad.mit.edu	37	chr3	147130423	147130423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctatctttgcaagatgtgCgacaagtcctacacgcatcc	7	14	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:147130423C>T	uc003ewe.2	+	2	1820	c.1101C>T	c.(1099-1101)TGC>TGT	p.C367C		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	367	C2H2-type 5.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GCAAGATGTGCGACAAGTCCT	0.587													T	147130423	C	T	147130423	2	4	75	1	0	0	0	0	0	0	0	1	17675	776	27	1		1	ZIC1	3	147130423	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3438740	147130423	50892007	296	52507											
AGTR1	185	broad.mit.edu	37	chr3	148459562	148459562	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gataattatggcaattgtgcTtttctttttcttttcctgga	7	6	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:148459562T>C	uc003ewg.2	+	4	1186	c.740T>C	c.(739-741)CTT>CCT	p.L247P	AGTR1_uc003ewh.2_Missense_Mutation_p.L247P|AGTR1_uc003ewi.2_Missense_Mutation_p.L247P|AGTR1_uc003ewj.2_Missense_Mutation_p.L247P|AGTR1_uc003ewk.2_Missense_Mutation_p.L247P	NM_031850	NP_114038	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	247	Helical; Name=6; (Potential).				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity				0			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GCAATTGTGCTTTTCTTTTTC	0.333													C	148459562	T	C	148459562	3	2	75	1	0	0	0	0	1	0	0	0	401	1609	56	3	742	3	AGTR1	3	148459562	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1329139	148459562	49562868	297	52508											
TSC22D2	9819	broad.mit.edu	37	chr3	150128715	150128715	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgtctaccacttctgtTactatgccaaatgtacccgc	7	12	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:150128715T>C	uc003exv.2	+	1	1928	c.1578T>C	c.(1576-1578)GTT>GTC	p.V526V	TSC22D2_uc003exw.2_RNA|TSC22D2_uc003exx.2_Silent_p.V526V	NM_014779	NP_055594	O75157	T22D2_HUMAN	TSC22 domain family, member 2	526							sequence-specific DNA binding transcription factor activity			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCACTTCTGTTACTATGCCAA	0.617													C	150128715	T	C	150128715	2	2	75	1	0	0	0	0	0	0	0	1	16605	1741	61	3		3	TSC22D2	3	150128715	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1669153	150128715	47893715	298	52509											
TSC22D2	9819	broad.mit.edu	37	chr3	150176387	150176387	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagcctccgcagccaacGcaacctccacagcagccgaa	8	19	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:150176387G>A	uc003exv.2	+	4	2657	c.2307G>A	c.(2305-2307)ACG>ACA	p.T769T	TSC22D2_uc003exw.2_RNA|TSC22D2_uc003exx.2_Silent_p.T745T	NM_014779	NP_055594	O75157	T22D2_HUMAN	TSC22 domain family, member 2	769							sequence-specific DNA binding transcription factor activity			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGCAGCCAACGCAACCTCCAC	0.468													A	150176387	G	A	150176387	2	1	75	1	0	0	0	0	0	0	0	1	16605	1074	38	1		1	TSC22D2	3	150176387	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	47672	150176387	47846043	299	52510											
MED12L	116931	broad.mit.edu	37	chr3	151105776	151105776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccccatgcccaagccccGcagttactacctccagccac	5	21	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:151105776G>A	uc003eyp.2	+	35	5200	c.5162G>A	c.(5161-5163)CGC>CAC	p.R1721H	MED12L_uc011bnz.1_Missense_Mutation_p.R1581H|MED12L_uc003eyy.1_Missense_Mutation_p.R884H	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1721					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCCAAGCCCCGCAGTTACTAC	0.582													A	151105776	G	A	151105776	3	1	75	1	0	0	0	0	1	0	0	0	9429	1087	38	1	5300	1	MED12L	3	151105776	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	929389	151105776	46916654	300	52511											
MBNL1	4154	broad.mit.edu	37	chr3	152163087	152163087	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataggtatgtcgagagtaccAacgtggcaattgcaaccgag	12	8	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:152163087A>G	uc003ezm.2	+	4	1355	c.566A>G	c.(565-567)CAA>CGA	p.Q189R	MBNL1_uc003ezh.2_Missense_Mutation_p.Q189R|MBNL1_uc003ezi.2_Missense_Mutation_p.Q189R|MBNL1_uc003ezj.2_Missense_Mutation_p.Q132R|MBNL1_uc003ezl.2_Missense_Mutation_p.Q189R|MBNL1_uc003ezp.2_Missense_Mutation_p.Q189R|MBNL1_uc003ezn.2_Missense_Mutation_p.Q121R|MBNL1_uc003ezo.2_Missense_Mutation_p.Q121R|MBNL1_uc010hvp.2_Missense_Mutation_p.Q97R	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	muscleblind-like 1 isoform c	189	C3H1-type 3.				embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CGAGAGTACCAACGTGGCAAT	0.413													G	152163087	A	G	152163087	3	3	75	1	0	0	0	0	1	0	0	0	9353	130	5	3	580	3	MBNL1	3	152163087	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1057311	152163087	45859343	301	52512											
GMPS	8833	broad.mit.edu	37	chr3	155652816	155652816	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagctgattttgaggcccaTaacattctcagggagtctgg	11	9	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:155652816T>C	uc003faq.2	+	14	2123	c.1788T>C	c.(1786-1788)CAT>CAC	p.H596H	GMPS_uc011bom.1_Silent_p.H497H	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	596					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTGAGGCCCATAACATTCTCA	0.428			T	MLL	AML								C	155652816	T	C	155652816	2	2	75	1	0	0	0	0	0	0	0	1	6498	1403	49	3		3	GMPS	3	155652816	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	3489729	155652816	42369614	302	52513											
KCNAB1	7881	broad.mit.edu	37	chr3	156232930	156232930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttcaatatgatcccaccGgtctgtgaacaagctgagta	9	10	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:156232930G>A	uc003far.2	+	10	850	c.786G>A	c.(784-786)CCG>CCA	p.P262P	KCNAB1_uc011bon.1_Silent_p.P233P|KCNAB1_uc003fas.2_Silent_p.P251P|KCNAB1_uc003fat.2_Silent_p.P244P|KCNAB1_uc010hvt.1_Silent_p.P215P|KCNAB1_uc011boo.1_Silent_p.P138P	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related	262						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGATCCCACCGGTCTGTGAAC	0.418													A	156232930	G	A	156232930	2	1	75	1	0	0	0	0	0	0	0	1	8009	1103	39	1		1	KCNAB1	3	156232930	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	580114	156232930	41789500	303	52514											
VEPH1	79674	broad.mit.edu	37	chr3	157081510	157081510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgccgtcatctgaacccaCaccctttgtgagcatagtgt	8	13	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:157081510C>T	uc003fbj.1	-	9	1695	c.1378G>A	c.(1378-1380)GTG>ATG	p.V460M	VEPH1_uc003fbk.1_Missense_Mutation_p.V460M|VEPH1_uc010hvu.1_Missense_Mutation_p.V460M	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	460						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TCTGAACCCACACCCTTTGTG	0.443													T	157081510	C	T	157081510	3	4	75	1	0	0	0	0	1	0	0	0	17151	478	17	4	1147	4	VEPH1	3	157081510	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	848580	157081510	40940920	304	52515											
SI	6476	broad.mit.edu	37	chr3	164737394	164737395	+	Frame_Shift_Ins	INS	-	-	G													tatgttggtacctacaccagINSggggttggtctcttgtgaac					rs35558903		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:164737393_164737394A>AG	uc003fei.3	-	27	3482_3483	c.3419_3420T>CT	c.(3418-3420)cctfs	p.P1140fs		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1140	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TACCTACACCAGGGGGTTGGTC	0.436										HNSCC(35;0.089)			G	164737395	-	G	164737394	7	5	75	1	0	1	1	0	0	0	0	0	14297	1000	35	0	2148	0	SI	3	164737394	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	7655884	164737394	33285036	305	52516											
SLITRK3	22865	broad.mit.edu	37	chr3	164905717	164905717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttgtcttctccaggacttCgaggtaatccggcttggttt	11	9	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:164905717C>T	uc003fej.3	-	2	3346	c.2902G>A	c.(2902-2904)GAA>AAA	p.E968K	SLITRK3_uc003fek.2_Missense_Mutation_p.E968K	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	968	Cytoplasmic (Potential).					integral to membrane		p.E968*(1)		ovary(6)|skin(3)|pancreas(1)	10						TCCAGGACTTCGAGGTAATCC	0.388										HNSCC(40;0.11)			T	164905717	C	T	164905717	3	4	75	1	0	0	0	0	1	0	0	0	14744	893	31	1	35	1	SLITRK3	3	164905717	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	168323	164905717	33116713	306	52517											
ARPM1	84517	broad.mit.edu	37	chr3	169486125	169486125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgaagtaatgagaccacGctccactgggtaactgtaag	10	10	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:169486125G>A	uc003ffs.1	-	2	589	c.214C>T	c.(214-216)CGT>TGT	p.R72C		NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	actin related protein M1	72						cytoplasm|cytoskeleton					0	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ATGAGACCACGCTCCACTGGG	0.418													A	169486125	G	A	169486125	3	1	75	1	0	0	0	0	1	0	0	0	976	1087	38	1	908	1	ARPM1	3	169486125	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	4580408	169486125	28536305	307	52518											
SEC62	7095	broad.mit.edu	37	chr3	169710494	169710494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgactccttcaggcctctGtacacacatgaatacaaagg	7	11	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:169710494G>A	uc003fgg.2	+	8	874	c.843G>A	c.(841-843)CTG>CTA	p.L281L	SEC62_uc003fgh.2_Silent_p.L281L	NM_003262	NP_003253	Q99442	SEC62_HUMAN	translocation protein 1	281	Cytoplasmic (Potential).				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			ovary(1)	1						TCAGGCCTCTGTACACACATG	0.428													A	169710494	G	A	169710494	2	1	75	1	0	0	0	0	0	0	0	1	14004	1364	48	4		4	SEC62	3	169710494	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	224369	169710494	28311936	308	52519											
SEC62	7095	broad.mit.edu	37	chr3	169710750	169710750	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgattttgaaatgataAcaaaagaggaactggaacag	10	3	0	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:169710750A>G	uc003fgg.2	+	8	1130	c.1099A>G	c.(1099-1101)ACA>GCA	p.T367A	SEC62_uc003fgh.2_Missense_Mutation_p.T367A	NM_003262	NP_003253	Q99442	SEC62_HUMAN	translocation protein 1	367	Cytoplasmic (Potential).				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			ovary(1)	1						TGAAATGATAACAAAAGAGGA	0.438													G	169710750	A	G	169710750	3	3	75	1	0	0	0	0	1	0	0	0	14004	43	2	3	1129	3	SEC62	3	169710750	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	256	169710750	28311680	309	52520											
FNDC3B	64778	broad.mit.edu	37	chr3	172096210	172096211	+	Frame_Shift_Ins	INS	-	-	C													tcagcacaaccaaaagtgtcINSccccccaccatcaaaggtgt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:172096209_172096210T>TC	uc003fhy.3	+	23	3330_3331	c.3158_3159T>TC	c.(3157-3159)gtcfs	p.V1053fs	FNDC3B_uc003fhz.4_Frame_Shift_Ins_p.V1053fs	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	1053						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACCAAAAGTGTCCCCCCCACCA	0.47													C	172096211	-	C	172096210	7	5	75	1	0	1	1	0	0	0	0	0	5970	842	30	0	3249	0	FNDC3B	3	172096210	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	2385460	172096210	25926220	310	52521											
ECT2	1894	broad.mit.edu	37	chr3	172525679	172525679	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actggctaaagatgctgtgtCgacatgtagctaacaccatt	9	9	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:172525679C>T	uc003fii.2	+	21	2410	c.2272C>T	c.(2272-2274)CGA>TGA	p.R758*	ECT2_uc010hwv.1_Nonsense_Mutation_p.R789*|ECT2_uc003fih.2_Nonsense_Mutation_p.R757*|ECT2_uc003fij.1_Nonsense_Mutation_p.R758*|ECT2_uc003fik.1_Nonsense_Mutation_p.R758*|ECT2_uc003fil.1_Nonsense_Mutation_p.R789*|ECT2_uc003fim.1_Nonsense_Mutation_p.R57*	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	758	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			GATGCTGTGTCGACATGTAGC	0.388													T	172525679	C	T	172525679	4	4	75	1	0	0	0	0	0	1	0	0	4901	876	31	1	2350	1	ECT2	3	172525679	Nonsense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	429469	172525679	25496751	311	52522											
EIF2B5	8893	broad.mit.edu	37	chr3	183858392	183858392	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcccggcacaacatctacCgagggcctgaggtcagcctg	11	14	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:183858392C>T	uc003fmp.2	+	7	1394	c.1030C>T	c.(1030-1032)CGA>TGA	p.R344*	EIF2B5_uc003fmq.2_Nonsense_Mutation_p.R65*|EIF2B5_uc003fmr.2_5'Flank	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B,	344					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			ovary(5)	5	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CAACATCTACCGAGGGCCTGA	0.577													T	183858392	C	T	183858392	4	4	75	1	0	0	0	0	0	1	0	0	5004	644	23	1	1056	1	EIF2B5	3	183858392	Nonsense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	11332713	183858392	14164038	312	52523											
EPHB3	2049	broad.mit.edu	37	chr3	184295718	184295719	+	Frame_Shift_Ins	INS	-	-	C													gcagctccaggagcagcttcINSccctcatcgtgggctccgct							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:184295717_184295718T>TC	uc003foz.3	+	7	2108_2109	c.1671_1672T>TC	c.(1669-1674)cttcccfs	p.L557fs		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	557						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGGAGCAGCTTCCCCTCATCGT	0.644													C	184295719	-	C	184295718	7	5	75	1	0	1	1	0	0	0	0	0	5176	855	30	0	1702	0	EPHB3	3	184295718	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	437326	184295718	13726712	313	52524											
LIPH	200879	broad.mit.edu	37	chr3	185237031	185237032	+	Frame_Shift_Del	DEL	CT	CT	-													gatacgcagtgatggtgcagCtctctctcagggaagacagg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:185237030_185237031GCT>G	uc003fpm.3	-	5	895_896	c.785_786AGC>C	c.(784-786)agcfs	p.S262fs	LIPH_uc010hyh.3_Frame_Shift_Del_p.S228fs	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	262					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TGATGGTGCAGCTCTCTCTCAG	0.475													-	185237032	CT	-	185237031	7	5	75	1	0	1	0	1	0	0	0	0	8824	797	28	0	590	0	LIPH	3	185237031	Frame_Shift_Del	DEL	CT	TCGA-BR-8363-01A-11D-2340-08	941313	185237031	12785399	314	52525											
FETUB	26998	broad.mit.edu	37	chr3	186362568	186362568	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaagatttacatgacgtgCcctgactgcccaagctccat	7	12	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:186362568C>T	uc010hyq.2	+	5	714	c.453C>T	c.(451-453)TGC>TGT	p.C151C	FETUB_uc011brz.1_Silent_p.C3C|FETUB_uc003fqn.2_Silent_p.C151C|FETUB_uc003fqo.2_Silent_p.C46C|FETUB_uc010hyr.2_Silent_p.C114C|FETUB_uc010hys.2_Silent_p.C3C|FETUB_uc003fqp.3_Silent_p.C86C	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	fetuin B precursor	151	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		ACATGACGTGCCCTGACTGCC	0.393													T	186362568	C	T	186362568	2	4	75	1	0	0	0	0	0	0	0	1	5821	747	26	2		2	FETUB	3	186362568	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1125537	186362568	11659862	315	52526											
RTP4	64108	broad.mit.edu	37	chr3	187088874	187088874	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaaggatcccatgacacaGccaattgtgaggcatgcact	11	10	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:187088874G>T	uc003frm.2	+	2	516	c.454G>T	c.(454-456)GCC>TCC	p.A152S		NM_022147	NP_071430	Q96DX8	RTP4_HUMAN	28kD interferon responsive protein	152	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding				0	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CCATGACACAGCCAATTGTGA	0.493													T	187088874	G	T	187088874	3	4	75	1	0	0	0	0	1	0	0	0	13736	971	34	5	460	5	RTP4	3	187088874	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	726306	187088874	10933556	316	52527											
BCL6	604	broad.mit.edu	37	chr3	187447070	187447070	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgaacttgtatttcttccAgttgcaggctttggggtcag	12	7	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:187447070A>G	uc003frp.3	-	5	1580	c.1123T>C	c.(1123-1125)TGG>CGG	p.W375R	BCL6_uc011bsf.1_Missense_Mutation_p.W375R|BCL6_uc010hza.2_Missense_Mutation_p.W273R|BCL6_uc003frq.1_Missense_Mutation_p.W375R	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	375					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TATTTCTTCCAGTTGCAGGCT	0.587			T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL								G	187447070	A	G	187447070	3	3	75	1	0	0	0	0	1	0	0	0	1376	188	7	3	1021	3	BCL6	3	187447070	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	358196	187447070	10575360	317	52528											
TP63	8626	broad.mit.edu	37	chr3	189608582	189608582	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccctctgcagtttcTtagcgaggttgggctgttca	10	13	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:189608582T>A	uc003fry.2	+	13	1746	c.1657T>A	c.(1657-1659)TTA>ATA	p.L553I	TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Missense_Mutation_p.L459I|TP63_uc003fsd.2_Intron|TP63_uc010hzd.1_Missense_Mutation_p.L374I	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	553	SAM.		L -> F (in AEC).		anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTGCAGTTTCTTAGCGAGGTT	0.468									Hay-Wells_syndrome	HNSCC(45;0.13)			A	189608582	T	A	189608582	3	1	75	1	0	0	0	0	1	0	0	0	16389	1606	56	5	1872	5	TP63	3	189608582	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	2161512	189608582	8413848	318	52529											
LSG1	55341	broad.mit.edu	37	chr3	194362829	194362829	+	Frame_Shift_Del	DEL	T	T	-													gtgcttgtagagtctacgacTtttttcttttttatttctgt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:194362828_194362828CT>C	uc003fui.3	-	13	2261	c.1946_1946AG>G	c.(1945-1947)agtfs	p.S649fs		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	Homo sapiens large subunit GTPase 1 homolog (S. cerevisiae) (LSG1), mRNA.	649					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		GAGTCTACGACTTTTTTCTTT	0.498													-	194362829	T	-	194362829	7	5	75	1	0	1	0	1	0	0	0	0	9049	1609	56	0	35	0	LSG1	3	194362829	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	4754247	194362829	3659601	319	52530											
LSG1	55341	broad.mit.edu	37	chr3	194366918	194366918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagtccttcaggatgtagCgcgcagatcgaggctggtct	13	10	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:194366918C>T	uc003fui.2	-	12	1913	c.1598G>A	c.(1597-1599)CGC>CAC	p.R533H		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	533					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CAGGATGTAGCGCGCAGATCG	0.453													T	194366918	C	T	194366918	3	4	75	1	0	0	0	0	1	0	0	0	9049	768	27	1	390	1	LSG1	3	194366918	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	4089	194366918	3655512	320	52531											
KIAA0226	9711	broad.mit.edu	37	chr3	197408014	197408014	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttacccggacttgattgaGcagcttgaccttcctataga	8	11	1	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:197408014G>T	uc003fyc.2	-	16	2599	c.2416C>A	c.(2416-2418)CTC>ATC	p.L806I	KIAA0226_uc003fyd.3_Missense_Mutation_p.L761I|KIAA0226_uc003fye.1_Missense_Mutation_p.L538I	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	806					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ACTTGATTGAGCAGCTTGACC	0.358													T	197408014	G	T	197408014	3	4	75	1	0	0	0	0	1	0	0	0	8162	971	34	5	522	5	KIAA0226	3	197408014	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	3041096	197408014	614416	321	52532											
GAK	2580	broad.mit.edu	37	chr4	887712	887712	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgtgcggggggatcgagTacttcccattgactattcga	13	9	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:887712T>C	uc003gbm.3	-	8	1026	c.827A>G	c.(826-828)TAC>TGC	p.Y276C	GAK_uc003gbn.3_Missense_Mutation_p.Y197C|GAK_uc010ibk.1_Missense_Mutation_p.Y170C|GAK_uc003gbl.3_Missense_Mutation_p.Y140C	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	276	Protein kinase.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		GGGGATCGAGTACTTCCCATT	0.607													C	887712	T	C	887712	3	2	75	1	0	0	0	0	1	0	0	0	6195	1638	57	3	3192	3	GAK	4	887712	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08		887712	190266564	322	52533											
TMEM175	84286	broad.mit.edu	37	chr4	946218	946218	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgttctgtgtgtgtgtgAtcgccattggggtcgtgcag	15	7	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:946218A>G	uc003gbq.2	+	7	540	c.442A>G	c.(442-444)ATC>GTC	p.I148V	TMEM175_uc010ibl.1_Missense_Mutation_p.I148V|TMEM175_uc003gbp.1_Missense_Mutation_p.I66V|TMEM175_uc003gbr.2_Missense_Mutation_p.I66V|TMEM175_uc003gbu.2_Missense_Mutation_p.I66V|TMEM175_uc003gbs.2_Missense_Mutation_p.I31V|TMEM175_uc003gbt.2_Missense_Mutation_p.I31V|TMEM175_uc003gbv.2_Missense_Mutation_p.I31V|TMEM175_uc010ibm.2_Missense_Mutation_p.I19V	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	148	Helical; (Potential).					integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGTGTGTGTGATCGCCATTGG	0.413													G	946218	A	G	946218	3	3	75	1	0	0	0	0	1	0	0	0	16088	333	12	3	464	3	TMEM175	4	946218	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	58506	946218	190208058	323	52534											
POLN	353497	broad.mit.edu	37	chr4	2172859	2172859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattgctcgttataagaaacCgttctcctgcaacaaaatga	6	9	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:2172859C>T	uc003ger.2	-	10	1424	c.1424G>A	c.(1423-1425)CGG>CAG	p.R475Q	POLN_uc010ich.1_Missense_Mutation_p.R66Q|POLN_uc011bvi.1_Missense_Mutation_p.R475Q	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	475					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TATAAGAAACCGTTCTCCTGC	0.333								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	2172859	C	T	2172859	3	4	75	1	0	0	0	0	1	0	0	0	12207	652	23	1	1338	1	POLN	4	2172859	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1226641	2172859	188981417	324	52535											
D4S234E	27065	broad.mit.edu	37	chr4	4389450	4389450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcccctgatgacgcccctcGatgtcaatcagctgcagttc	8	15	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:4389450G>A	uc011bvz.1	+	5	1375	c.94G>A	c.(94-96)GAT>AAT	p.D32N	D4S234E_uc011bwa.1_Missense_Mutation_p.D32N|D4S234E_uc003ghz.2_Missense_Mutation_p.D32N|D4S234E_uc003gia.2_Missense_Mutation_p.D32N|D4S234E_uc003gib.2_Missense_Mutation_p.D32N	NM_014392	NP_055207	P42857	NSG1_HUMAN	brain neuron cytoplasmic protein 1	32	Cytoplasmic (Potential).				dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		GACGCCCCTCGATGTCAATCA	0.632													A	4389450	G	A	4389450	3	1	75	1	0	0	0	0	1	0	0	0	4214	1058	37	1	96	1	D4S234E	4	4389450	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2216591	4389450	186764826	325	52536											
MAN2B2	23324	broad.mit.edu	37	chr4	6596373	6596373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctcggtgcagtatgccaCgctgggcgactacttccgtg	13	12	1	0	rs148186055		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:6596373C>T	uc003gjf.1	+	7	1007	c.971C>T	c.(970-972)ACG>ATG	p.T324M	MAN2B2_uc003gje.1_Missense_Mutation_p.T324M|MAN2B2_uc011bwf.1_Missense_Mutation_p.T273M	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	324					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						CAGTATGCCACGCTGGGCGAC	0.602													T	6596373	C	T	6596373	3	4	75	1	0	0	0	0	1	0	0	0	9217	536	19	1	997	1	MAN2B2	4	6596373	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2206923	6596373	184557903	326	52537											
SH3TC1	54436	broad.mit.edu	37	chr4	8229061	8229061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcgcctggcacaggcccGgggggcggccaagaaagctg	19	12	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:8229061G>A	uc003gkv.3	+	12	1741	c.1640G>A	c.(1639-1641)CGG>CAG	p.R547Q	SH3TC1_uc003gkw.3_Missense_Mutation_p.R471Q|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	547							binding			large_intestine(2)|pancreas(1)	3						GCACAGGCCCGGGGGGCGGCC	0.697													A	8229061	G	A	8229061	3	1	75	1	0	0	0	0	1	0	0	0	14261	1116	39	1	1682	1	SH3TC1	4	8229061	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1632688	8229061	182925215	327	52538											
ZNF518B	85460	broad.mit.edu	37	chr4	10446746	10446747	+	Frame_Shift_Ins	INS	-	-	T													tcaactgtcagtgactttgtINStttttctgcagaaagtactt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:10446745_10446746G>GT	uc003gmn.3	-	2	1694_1695	c.1207_1208C>AC	c.(1207-1209)acafs	p.T403fs	ZNF518B_uc021xme.1_Frame_Shift_Ins_p.T403fs	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CAGTGACTTTGTTTTTTCTGCA	0.386													T	10446747	-	T	10446746	7	5	75	1	0	1	1	0	0	0	0	0	17960	1725	60	0	2021	0	ZNF518B	4	10446746	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	2217685	10446746	180707530	328	52539											
CCKAR	886	broad.mit.edu	37	chr4	26491091	26491091	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagtacaagagaatctgcAccgctggctgccactctgca	11	12	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:26491091A>G	uc003gse.1	-	2	281	c.128T>C	c.(127-129)GTG>GCG	p.V43A		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	43	Helical; Name=1; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			lung(3)|pancreas(1)	4		Breast(46;0.0503)			Ceruletide(DB00403)	GAGAATCTGCACCGCTGGCTG	0.552													G	26491091	A	G	26491091	3	3	75	1	0	0	0	0	1	0	0	0	2880	159	6	3	1174	3	CCKAR	4	26491091	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	16044345	26491091	164663185	329	52540											
RFC1	5981	broad.mit.edu	37	chr4	39304169	39304169	+	Frame_Shift_Del	DEL	G	G	-													ttatttcattcatagctggaGggggaatctttaaaccttct							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:39304168_39304168AG>A	uc003gty.2	-	17	2531	c.2391_2391CT>T	c.(2389-2391)cctfs	p.P797fs	RFC1_uc003gtx.2_Frame_Shift_Del_p.P796fs	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	797					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCATAGCTGGAGGGGGAATCT	0.323													-	39304169	G	-	39304169	7	5	75	1	0	1	0	1	0	0	0	0	13244	1000	35	0	1088	0	RFC1	4	39304169	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	12813078	39304169	151850107	330	52541											
ATP10D	57205	broad.mit.edu	37	chr4	47559905	47559905	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggtgtgtgagagcccCcagtgctccagtagctcagc	12	14	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:47559905C>T	uc003gxk.1	+	12	2213	c.2049C>T	c.(2047-2049)CCC>CCT	p.P683P	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	683	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						GTGAGAGCCCCCAGTGCTCCA	0.552													T	47559905	C	T	47559905	2	4	75	1	0	0	0	0	0	0	0	1	1118	610	22	4		4	ATP10D	4	47559905	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	8255736	47559905	143594371	331	52542											
KDR	3791	broad.mit.edu	37	chr4	55981455	55981455	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgcaacttactgcacaaAgtgacacgttgagatttgaa	9	7	0	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:55981455A>C	uc003has.2	-	4	784	c.482T>G	c.(481-483)CTT>CGT	p.L161R	KDR_uc003hat.1_Missense_Mutation_p.L161R|KDR_uc011bzx.1_Missense_Mutation_p.L161R	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	161	Ig-like C2-type 2.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TACTGCACAAAGTGACACGTT	0.358			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			C	55981455	A	C	55981455	3	2	75	1	0	0	0	0	1	0	0	0	8139	72	3	5	3696	5	KDR	4	55981455	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	8421550	55981455	135172821	332	52543											
CLOCK	9575	broad.mit.edu	37	chr4	56336882	56336882	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgtaggatctttatacttActggtaaatgttcaagtaat	7	4	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:56336882A>G	uc003haz.1	-	9	1364	c.438_splice	c.e9+1	p.P146_splice	CLOCK_uc003hba.1_Splice_Site_p.P146_splice	NM_004898	NP_004889	O15516	CLOCK_HUMAN	clock						circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CTTTATACTTACTGGTAAATG	0.333													G	56336882	A	G	56336882	5	3	75	1	0	0	0	0	0	0	1	0	3549	405	14	3	2164	3	CLOCK	4	56336882	Splice_Site	SNP	A	TCGA-BR-8363-01A-11D-2340-08	355427	56336882	134817394	333	52544											
UBA6	55236	broad.mit.edu	37	chr4	68530907	68530908	+	Splice_Site	INS	-	-	A													ccgaaaaaaaaatacttacaINSaaaaaaactgttttaggagt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:68530906_68530907C>CA	uc003hdg.4	-	10	949	c.897_splice	c.e10+1	p.F299_splice	UBA6_uc003hdi.3_Splice_Site_p.F299_splice|UBA6_uc003hdj.2_Splice_Site_p.F299_splice	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA.	299					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AAAATACTTACAAAAAAAACTG	0.322													A	68530908	-	A	68530907	8	5	75	1	0	1	1	0	0	0	1	0	16829	144	5	0	2357	0	UBA6	4	68530907	Splice_Site	INS	-	TCGA-BR-8363-01A-11D-2340-08	12194025	68530907	122623369	334	52545											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68699069	68699069	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggattctctgctcagacAatgttattaggtctggaccg	10	9	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:68699069A>G	uc003hdq.2	-	7	610	c.545T>C	c.(544-546)TTG>TCG	p.L182S	LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc003hdp.2_5'UTR|TMPRSS11D_uc011caj.1_Missense_Mutation_p.L65S	NM_004262	NP_004253	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	182	Extracellular (Potential).				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						CTGCTCAGACAATGTTATTAG	0.512													G	68699069	A	G	68699069	3	3	75	1	0	0	0	0	1	0	0	0	16238	131	5	3	727	3	TMPRSS11D	4	68699069	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	168162	68699069	122455207	335	52546											
UGT2B7	7364	broad.mit.edu	37	chr4	69962562	69962562	+	Frame_Shift_Del	DEL	T	T	-													aaagatacattttggttataTttttcacaagtacaggaaat							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:69962561_69962561AT>A	uc003heg.4	+	0	369	c.323_323AT>A	c.(322-324)tatfs	p.Y108fs	UGT2B7_uc010ihq.3_Frame_Shift_Del_p.Y108fs	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	108					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTTTGGTTATATTTTTCACAA	0.294													-	69962562	T	-	69962562	7	5	75	1	0	1	0	1	0	0	0	0	16959	1500	52	0	326	0	UGT2B7	4	69962562	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	1263493	69962562	121191714	336	52547											
AMBN	258	broad.mit.edu	37	chr4	71467311	71467311	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacatctgcccttgcaggaAggagaactgcctctggttca	12	11	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:71467311A>G	uc003hfl.2	+	6	546	c.471A>G	c.(469-471)GAA>GAG	p.E157E		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	ameloblastin precursor	157					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			ovary(3)|skin(1)	4			Lung(101;0.235)			CCTTGCAGGAAGGAGAACTGC	0.522											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	71467311	A	G	71467311	2	3	75	1	0	0	0	0	0	0	0	1	563	69	3	3		3	AMBN	4	71467311	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1504749	71467311	119686965	337	52548											
IGJ	3512	broad.mit.edu	37	chr4	71532173	71532173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacagccttaataaaaaccGccaggactccccagaaaagc	7	13	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:71532173G>A	uc003hfn.3	-	1	176	c.35C>T	c.(34-36)GCG>GTG	p.A12V	IGJ_uc010ihz.2_Missense_Mutation_p.A12V	NM_144646	NP_653247	P01591	IGJ_HUMAN	immunoglobulin J chain	12					immune response	extracellular region	antigen binding				0			Lung(101;0.235)			AATAAAAACCGCCAGGACTCC	0.358													A	71532173	G	A	71532173	3	1	75	1	0	0	0	0	1	0	0	0	7592	1087	38	1	460	1	IGJ	4	71532173	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	64862	71532173	119622103	338	52549											
CCDC158	339965	broad.mit.edu	37	chr4	77292635	77292635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattgatcacgctctgtccGggcttcagttagctctgagt	11	10	4	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:77292635G>A	uc003hkb.3	-	9	1237	c.1084C>T	c.(1084-1086)CGG>TGG	p.R362W		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	362	Potential.									skin(3)|ovary(2)|pancreas(1)	6						CGCTCTGTCCGGGCTTCAGTT	0.388													A	77292635	G	A	77292635	3	1	75	1	0	0	0	0	1	0	0	0	2790	1115	39	1	2321	1	CCDC158	4	77292635	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	5760462	77292635	113861641	339	52550											
SHROOM3	57619	broad.mit.edu	37	chr4	77675979	77675979	+	Frame_Shift_Del	DEL	C	C	-													ccttcctgaggaatcctcagCccctgattttgcaaacctga							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:77675978_77675978GC>G	uc011cbx.2	+	6	5295	c.4342_4342GC>G	c.(4342-4344)gccfs	p.A1448fs	SHROOM3_uc003hkg.3_Frame_Shift_Del_p.A1226fs	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1448					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGAATCCTCAGCCCCTGATTT	0.567													-	77675979	C	-	77675979	7	5	75	1	0	1	0	1	0	0	0	0	14295	739	26	0	4369	0	SHROOM3	4	77675979	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	383344	77675979	113478297	340	52551											
SHROOM3	57619	broad.mit.edu	37	chr4	77692019	77692019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttgagaatgtccttagcGgccttggtgaagatgccagt	14	7	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:77692019G>A	uc011cbx.1	+	10	6543	c.5590G>A	c.(5590-5592)GGC>AGC	p.G1864S	SHROOM3_uc003hkg.2_Missense_Mutation_p.G1642S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1864	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			TGTCCTTAGCGGCCTTGGTGA	0.507													A	77692019	G	A	77692019	3	1	75	1	0	0	0	0	1	0	0	0	14295	1116	39	1	5628	1	SHROOM3	4	77692019	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	16040	77692019	113462257	341	52552											
PRDM8	56978	broad.mit.edu	37	chr4	81124621	81124621	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaggagaaactcaagtgcCccatctgcaatgagtccttc	10	11	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:81124621C>A	uc010ijo.2	+	8	2844	c.2005C>A	c.(2005-2007)CCC>ACC	p.P669T	PRDM8_uc003hmb.3_Missense_Mutation_p.P669T|PRDM8_uc003hmc.3_Missense_Mutation_p.P669T	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	669	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						ACTCAAGTGCCCCATCTGCAA	0.577													A	81124621	C	A	81124621	3	1	75	1	0	0	0	0	1	0	0	0	12462	623	22	5	2015	5	PRDM8	4	81124621	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3432602	81124621	110029655	342	52553											
AFF1	4299	broad.mit.edu	37	chr4	87968052	87968052	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cactagtgtccaccaccagtCcattcacactcctgcgtctg	6	17	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:87968052C>A	uc003hqj.3	+	3	751	c.344C>A	c.(343-345)TCC>TAC	p.S115Y	AFF1_uc011ccx.1_Missense_Mutation_p.S56Y|AFF1_uc003hqh.1_Missense_Mutation_p.S122Y|AFF1_uc011ccy.1_Missense_Mutation_p.S122Y|AFF1_uc011ccz.1_Missense_Mutation_p.S122Y|AFF1_uc003hqk.3_Missense_Mutation_p.S115Y|AFF1_uc011cda.1_Intron	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	115						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CACCACCAGTCCATTCACACT	0.493													A	87968052	C	A	87968052	3	1	75	1	0	0	0	0	1	0	0	0	356	855	30	5	396	5	AFF1	4	87968052	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	6843431	87968052	103186224	343	52554											
ABCG2	9429	broad.mit.edu	37	chr4	89020553	89020553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataaatcagataacagttttCcaaggaaataagatgacact	6	6	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:89020553C>T	uc003hrg.2	-	12	1908	c.1415G>A	c.(1414-1416)GGA>GAA	p.G472E	ABCG2_uc003hrh.2_Missense_Mutation_p.G472E|ABCG2_uc003hrf.2_Missense_Mutation_p.G340E	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G, member 2	472	ABC transmembrane type-2.|Cytoplasmic (Potential).				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TAACAGTTTTCCAAGGAAATA	0.318													T	89020553	C	T	89020553	3	4	75	1	0	0	0	0	1	0	0	0	69	855	30	4	572	4	ABCG2	4	89020553	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1052501	89020553	102133723	344	52555											
BANK1	55024	broad.mit.edu	37	chr4	102951317	102951317	+	Frame_Shift_Del	DEL	A	A	-													tggccaatctgagtataaagAaaaaaactgggagtcggtct							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:102951316_102951316GA>G	uc003hvy.4	+	9	2068	c.1794_1794GA>G	c.(1792-1794)aagfs	p.K598fs	BANK1_uc003hvx.4_Frame_Shift_Del_p.K583fs|BANK1_uc010ill.3_Frame_Shift_Del_p.K465fs|BANK1_uc003hvz.4_Frame_Shift_Del_p.K568fs	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	598					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGAGTATAAAGAAAAAAACTG	0.418													-	102951317	A	-	102951317	7	5	75	1	0	1	0	1	0	0	0	0	1309	247	9	0	1833	0	BANK1	4	102951317	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	13930764	102951317	88202959	345	52556											
COL25A1	84570	broad.mit.edu	37	chr4	110223091	110223091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacacgggggcatggtccGggcacaatgctgttcggcag	17	11	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:110223091G>A	uc003hze.1	-	2	616	c.85C>T	c.(85-87)CGG>TGG	p.R29W	COL25A1_uc003hzg.2_Missense_Mutation_p.R29W|COL25A1_uc003hzh.1_Missense_Mutation_p.R29W	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	29	Cytoplasmic (Potential).					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGCATGGTCCGGGCACAATGC	0.677													A	110223091	G	A	110223091	3	1	75	1	0	0	0	0	1	0	0	0	3684	1115	39	1	2107	1	COL25A1	4	110223091	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	7271774	110223091	80931185	346	52557											
ANK2	287	broad.mit.edu	37	chr4	114161659	114161659	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagtggttttacccctttgCacatagctgcacattacgga	9	10	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:114161659C>A	uc003ibe.3	+	8	812	c.712C>A	c.(712-714)CAC>AAC	p.H238N	ANK2_uc003ibd.3_Missense_Mutation_p.H217N|ANK2_uc003ibf.3_Missense_Mutation_p.H238N|ANK2_uc003ibc.2_Missense_Mutation_p.H214N|ANK2_uc011cgb.1_Missense_Mutation_p.H253N	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	238	ANK 7.				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)		TACCCCTTTGCACATAGCTGC	0.433													A	114161659	C	A	114161659	3	1	75	1	0	0	0	0	1	0	0	0	621	710	25	5	767	5	ANK2	4	114161659	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3938568	114161659	76992617	347	52558											
ANK2	287	broad.mit.edu	37	chr4	114274836	114274836	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatacccccagatgagacaCagagtacacagaaacagcac	7	13	0	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:114274836C>T	uc003ibe.3	+	38	5162	c.5062C>T	c.(5062-5064)CAG>TAG	p.Q1688*	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Nonsense_Mutation_p.Q1703*	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1655					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)		AGATGAGACACAGAGTACACA	0.443													T	114274836	C	T	114274836	4	4	75	1	0	0	0	0	0	1	0	0	621	479	17	4	5277	4	ANK2	4	114274836	Nonsense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	113177	114274836	76879440	348	52559											
C4orf31	79625	broad.mit.edu	37	chr4	121958509	121958509	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagtactgaatgggttgtTtcagcaaagaggcagtgggg	15	6	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:121958509T>C	uc003idq.1	-	4	1144	c.617A>G	c.(616-618)AAA>AGA	p.K206R		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	206											0						AATGGGTTGTTTCAGCAAAGA	0.483													C	121958509	T	C	121958509	3	2	75	1	0	0	0	0	1	0	0	0	2261	1841	64	3	1093	3	C4orf31	4	121958509	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	7683673	121958509	69195767	349	52560											
QRFPR	84109	broad.mit.edu	37	chr4	122254150	122254150	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtagatcttctggtgcacaGggctggtccactcttctaag	11	10	4	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:122254150G>T	uc010inj.1	-	4	1002	c.623C>A	c.(622-624)CCT>CAT	p.P208H	QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Missense_Mutation_p.P208H	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	G protein-coupled receptor 103	208	Extracellular (Potential).					plasma membrane	neuropeptide Y receptor activity				0						CTGGTGCACAGGGCTGGTCCA	0.388													T	122254150	G	T	122254150	3	4	75	1	0	0	0	0	1	0	0	0	12878	1000	35	5	684	5	QRFPR	4	122254150	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	295641	122254150	68900126	350	52561											
PCDH10	57575	broad.mit.edu	37	chr4	134072535	134072536	+	Missense_Mutation	DNP	AC	AC	CA													cttcctttaagaattactacAccatcgttaccgaagccccc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:134072535_134072536AC>CA	uc003iha.2	+	1	2066_2067	c.1240_1241AC>CA	c.(1240-1242)ACC>CAC	p.T414H	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.T414H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	414	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GAATTACTACACCATCGTTACC	0.609													CA	134072536	AC	CA	134072535	3	2	75	1	0	0	0	0	1	0	0	0	11507	159	6	5	1242	5	PCDH10	4	134072535	Missense_Mutation	DNP	AC	TCGA-BR-8363-01A-11D-2340-08	11818385	134072535	57081741	351	52562											
MMAA	166785	broad.mit.edu	37	chr4	146563587	146563587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaatgcttactgagagagGgcacaaattatctgtgctag	10	6	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:146563587G>A	uc003ikh.3	+	3	597	c.512G>A	c.(511-513)GGG>GAG	p.G171E	MMAA_uc003ikg.2_Missense_Mutation_p.G171E|MMAA_uc003iki.1_RNA|MMAA_uc010iow.2_RNA	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria type A precursor	171						mitochondrion	GTP binding|nucleoside-triphosphatase activity			ovary(1)	1	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTGAGAGAGGGCACAAATTA	0.428													A	146563587	G	A	146563587	3	1	75	1	0	0	0	0	1	0	0	0	9639	1232	43	4	518	4	MMAA	4	146563587	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	12491052	146563587	44590689	352	52563											
SFRP2	6423	broad.mit.edu	37	chr4	154702668	154702668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctgccccttctgccaccGcttcaccgaggtgatcacca	7	18	4	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:154702668G>A	uc003inv.1	-	3	1064	c.823C>T	c.(823-825)CGG>TGG	p.R275W		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2 precursor	275	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.093)	Renal(120;0.117)				TTCTGCCACCGCTTCACCGAG	0.607													A	154702668	G	A	154702668	3	1	75	1	0	0	0	0	1	0	0	0	14162	1086	38	1	68	1	SFRP2	4	154702668	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	8139081	154702668	36451608	353	52564											
NPY2R	4887	broad.mit.edu	37	chr4	156135999	156135999	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctggacctgaaggagtAcaaactcatcttcacagtgt	10	10	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:156135999A>G	uc003ioq.2	+	2	1403	c.908A>G	c.(907-909)TAC>TGC	p.Y303C	NPY2R_uc003ior.2_Missense_Mutation_p.Y303C	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	303	Extracellular (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			lung(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0854)				CTGAAGGAGTACAAACTCATC	0.527													G	156135999	A	G	156135999	3	3	75	1	0	0	0	0	1	0	0	0	10609	391	14	3	910	3	NPY2R	4	156135999	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1433331	156135999	35018277	354	52565											
TLL1	7092	broad.mit.edu	37	chr4	166910643	166910643	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaccttggacataccacaGgtatggttgattgtttcaga	10	7	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:166910643G>T	uc003irh.1	+	2	927	c.280G>T	c.(280-282)GGT>TGT	p.G94C	TLL1_uc011cjn.1_Missense_Mutation_p.G94C|TLL1_uc011cjo.1_Translation_Start_Site	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	94					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ACATACCACAGGTATGGTTGA	0.343													T	166910643	G	T	166910643	3	4	75	1	0	0	0	0	1	0	0	0	15942	1014	35	5	286	5	TLL1	4	166910643	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	10774644	166910643	24243633	355	52566											
SH3RF1	57630	broad.mit.edu	37	chr4	170037648	170037650	+	In_Frame_Del	DEL	CAT	CAT	-													gtgtgcgtggctgagcctggCatcagaggcgcaggttgtgg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:170037647_170037649GCAT>G	uc003isa.1	-	9	2245_2247	c.1910_1912ATGC>C	c.(1909-1914)atgcca>aCca	p.637_638MP>T	SH3RF1_uc010irc.1_In_Frame_Del_p.337_338MP>T	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	637						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GCTGAGCCTGGCATCAGAGGCGC	0.635													-	170037650	CAT	-	170037648	7	5	75	1	0	1	0	1	0	0	0	0	14258	710	25	0	767	0	SH3RF1	4	170037648	In_Frame_Del	DEL	CAT	TCGA-BR-8363-01A-11D-2340-08	3127005	170037648	21116628	356	52567											
CLCN3	1182	broad.mit.edu	37	chr4	170618478	170618478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagtatcatacaccatggTacctttttgaactgtttcct	7	9	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:170618478T>C	uc003isi.2	+	9	1665	c.1156T>C	c.(1156-1158)TAC>CAC	p.Y386H	CLCN3_uc003ish.2_Missense_Mutation_p.Y386H|CLCN3_uc011cjz.1_Missense_Mutation_p.Y369H|CLCN3_uc011cka.1_Missense_Mutation_p.Y359H|CLCN3_uc003isj.1_Missense_Mutation_p.Y359H	NM_001829	NP_001820	P51790	CLCN3_HUMAN	chloride channel 3 isoform b	386					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TACACCATGGTACCTTTTTGA	0.423													C	170618478	T	C	170618478	3	2	75	1	0	0	0	0	1	0	0	0	3464	1638	57	3	1186	3	CLCN3	4	170618478	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	580830	170618478	20535798	357	52568											
GPM6A	2823	broad.mit.edu	37	chr4	176573029	176573031	+	In_Frame_Del	DEL	GTG	GTG	-													gatttgctccctccactaatGtggtgttccggcagatggtc					rs72702639	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:176573028_176573030TGTG>T	uc003iuf.3	-	3	1300_1302	c.496_498CACA>A	c.(496-498)aca>A	p.T166del	GPM6A_uc011ckj.2_In_Frame_Del_p.T159del|GPM6A_uc003iug.3_In_Frame_Del_p.T166del|GPM6A_uc003iuh.3_In_Frame_Del_p.T155del	NM_201591	NP_963885	P51674	GPM6A_HUMAN	Homo sapiens glycoprotein M6A (GPM6A), transcript variant 2, mRNA.	166						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CCTCCACTAATGTGGTGTTCCGG	0.463													-	176573031	GTG	-	176573029	7	5	75	1	0	1	0	1	0	0	0	0	6615	1377	48	0	355	0	GPM6A	4	176573029	In_Frame_Del	DEL	GTG	TCGA-BR-8363-01A-11D-2340-08	5954551	176573029	14581247	358	52569											
SLC9A3	6550	broad.mit.edu	37	chr5	482225	482225	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgaggttcccggtgctcGctcctcttcaccttcagcca	9	17	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:482225G>A	uc003jbe.2	-	8	1516	c.1404C>T	c.(1402-1404)AGC>AGT	p.S468S	SLC9A3_uc011clx.1_Silent_p.S459S	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	468	Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCCGGTGCTCGCTCCTCTTCA	0.697													A	482225	G	A	482225	2	1	75	1	0	0	0	0	0	0	0	1	14713	1078	38	1		1	SLC9A3	5	482225	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08		482225	180433035	359	52570											
ZDHHC11	79844	broad.mit.edu	37	chr5	850499	850499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgatgaaaaggataccacGtaggcaatgtatttccacgc	9	10	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:850499G>A	uc011cma.1	-	1	603	c.219C>T	c.(217-219)TAC>TAT	p.Y73Y	ZDHHC11_uc003jbj.2_5'Flank	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	73	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			skin(1)|pancreas(1)	2			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			AGGATACCACGTAGGCAATGT	0.597													A	850499	G	A	850499	2	1	75	1	0	0	0	0	0	0	0	1	17598	1140	40	1		1	ZDHHC11	5	850499	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	368274	850499	180064761	360	52571											
SLC12A7	10723	broad.mit.edu	37	chr5	1076887	1076887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggactgtcagcagcagcGcccacgtgggctccccgttg	14	14	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:1076887G>A	uc003jbu.2	-	13	1736	c.1670C>T	c.(1669-1671)GCG>GTG	p.A557V		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	557	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CAGCAGCAGCGCCCACGTGGG	0.632													A	1076887	G	A	1076887	3	1	75	1	0	0	0	0	1	0	0	0	14388	1087	38	1	1629	1	SLC12A7	5	1076887	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	226388	1076887	179838373	361	52572											
TERT	7015	broad.mit.edu	37	chr5	1294623	1294623	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgcagtgcgtcggtcacCgtgttgggcaggtagctgcg	16	13	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:1294623C>T	uc003jcb.1	-	2	436	c.378G>A	c.(376-378)ACG>ACA	p.T126T	TERT_uc003jca.1_Silent_p.T126T|TERT_uc003jcc.1_Silent_p.T126T|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	126	RNA-interacting domain 1.|GQ motif.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGTCGGTCACCGTGTTGGGCA	0.622									TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic				T	1294623	C	T	1294623	2	4	75	1	0	0	0	0	0	0	0	1	15761	639	23	1		1	TERT	5	1294623	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	217736	1294623	179620637	362	52573											
IRX1	79192	broad.mit.edu	37	chr5	3599882	3599882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgctggcagcagccgacGttctcaagccccaggactcg	12	17	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:3599882G>A	uc003jde.2	+	2	872	c.820G>A	c.(820-822)GTT>ATT	p.V274I		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	274						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						AGCAGCCGACGTTCTCAAGCC	0.726													A	3599882	G	A	3599882	3	1	75	1	0	0	0	0	1	0	0	0	7843	1145	40	1	826	1	IRX1	5	3599882	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2305259	3599882	177315378	363	52574											
ADAMTS16	170690	broad.mit.edu	37	chr5	5239385	5239385	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccaagcaccaccacaccaAccgtgagtactttagagctg	7	15	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:5239385A>G	uc003jdl.2	+	15	2414	c.2276A>G	c.(2275-2277)AAC>AGC	p.N759S	ADAMTS16_uc003jdk.1_Missense_Mutation_p.N759S|ADAMTS16_uc010itk.1_RNA	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	759	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CACCACACCAACCGTGAGTAC	0.512													G	5239385	A	G	5239385	3	3	75	1	0	0	0	0	1	0	0	0	261	43	2	3	2334	3	ADAMTS16	5	5239385	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1639503	5239385	175675875	364	52575											
SEMA5A	9037	broad.mit.edu	37	chr5	9066627	9066627	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaattcggatcagccaggcgGgctttgcatgtgtatcggaa	13	8	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:9066627G>T	uc003jek.2	-	17	2917	c.2205C>A	c.(2203-2205)GCC>GCA	p.A735A		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	735	TSP type-1 4.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						CAGCCAGGCGGGCTTTGCATG	0.552													T	9066627	G	T	9066627	2	4	75	1	0	0	0	0	0	0	0	1	14037	1219	43	5		5	SEMA5A	5	9066627	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	3827242	9066627	171848633	365	52576											
CTNND2	1501	broad.mit.edu	37	chr5	11384949	11384949	+	Frame_Shift_Del	DEL	G	G	-													gagatggtggactgcacggtGgggggcgaggtcacgcggat							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:11384948_11384948TG>T	uc003jfa.1	-	6	1151	c.1006_1006CA>A	c.(1006-1008)accfs	p.T336fs	CTNND2_uc010itt.2_Frame_Shift_Del_p.T245fs|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	336					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GACTGCACGGTGGGGGGCGAG	0.692													-	11384949	G	-	11384949	7	5	75	1	0	1	0	1	0	0	0	0	4020	1335	47	0	2736	0	CTNND2	5	11384949	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	2318322	11384949	169530311	366	52577											
DNAH5	1767	broad.mit.edu	37	chr5	13754314	13754314	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaagaaatttacatacctAcaagtcttttagtttgtgca	5	6	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:13754314A>G	uc003jfd.2	-	62	10595	c.10553T>C	c.(10552-10554)GTA>GCA	p.V3518A	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3518					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)					TTACATACCTACAAGTCTTTT	0.363									Kartagener_syndrome				G	13754314	A	G	13754314	3	3	75	1	0	0	0	0	1	0	0	0	4604	391	14	3	3393	3	DNAH5	5	13754314	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	2369365	13754314	167160946	367	52578											
TRIO	7204	broad.mit.edu	37	chr5	14507244	14507244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctttagggctgaccagggtCgcctcctggactgcgtggtg	15	11	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:14507244C>T	uc003jff.2	+	56	8632	c.8626C>T	c.(8626-8628)CGC>TGC	p.R2876C	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2876	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.R2876C(2)		skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					TGACCAGGGTCGCCTCCTGGA	0.567													T	14507244	C	T	14507244	3	4	75	1	0	0	0	0	1	0	0	0	16549	884	31	1	8848	1	TRIO	5	14507244	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	752930	14507244	166408016	368	52579											
CDH12	1010	broad.mit.edu	37	chr5	21802471	21802471	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaaccggtggtcaaggTgaaggttggaagcctcaact	14	7	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:21802471T>C	uc010iuc.2	-	7	1519	c.1061A>G	c.(1060-1062)CAC>CGC	p.H354R	CDH12_uc011cno.1_Missense_Mutation_p.H314R|CDH12_uc003jgk.2_Missense_Mutation_p.H354R	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	354	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						GTGGTCAAGGTGAAGGTTGGA	0.453										HNSCC(59;0.17)			C	21802471	T	C	21802471	3	2	75	1	0	0	0	0	1	0	0	0	3098	1696	59	3	1347	3	CDH12	5	21802471	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	7295227	21802471	159112789	369	52580											
PRDM9	56979	broad.mit.edu	37	chr5	23521189	23521189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaagaattgtcaagaacaGcaaatttactgaatgcaagt	8	5	1	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:23521189G>A	uc003jgo.2	+	6	591	c.409G>A	c.(409-411)GCA>ACA	p.A137T		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	137					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						GTCAAGAACAGCAAATTTACT	0.423										HNSCC(3;0.000094)			A	23521189	G	A	23521189	3	1	75	1	0	0	0	0	1	0	0	0	12463	971	34	2	427	2	PRDM9	5	23521189	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1718718	23521189	157394071	370	52581											
TARS	6897	broad.mit.edu	37	chr5	33459936	33459936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggagaaggagctgtttgCcctgaaacccatgaactgcc	13	10	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:33459936C>T	uc003jhy.2	+	11	1515	c.1220C>T	c.(1219-1221)GCC>GTC	p.A407V	TARS_uc011cob.1_Missense_Mutation_p.A395V|TARS_uc010iup.1_Missense_Mutation_p.A348V|TARS_uc011coc.1_Missense_Mutation_p.A428V|TARS_uc003jhz.2_Missense_Mutation_p.A303V|TARS_uc011cod.1_Missense_Mutation_p.A286V	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	407					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)	GAGCTGTTTGCCCTGAAACCC	0.502													T	33459936	C	T	33459936	3	4	75	1	0	0	0	0	1	0	0	0	15556	739	26	2	1262	2	TARS	5	33459936	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	9938747	33459936	147455324	371	52582											
TTC23L	153657	broad.mit.edu	37	chr5	34867166	34867166	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaccaggccatccagtacTtgcagcaggtcagtgggttg	12	11	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:34867166T>G	uc003jiu.2	+	7	935	c.832T>G	c.(832-834)TTG>GTG	p.L278V	TTC23L_uc003jiv.2_Missense_Mutation_p.L85V|TTC23L_uc010iut.1_Missense_Mutation_p.L85V	NM_144725	NP_653326	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	278	Potential.						binding			central_nervous_system(1)	1						CATCCAGTACTTGCAGCAGGT	0.577													G	34867166	T	G	34867166	3	3	75	1	0	0	0	0	1	0	0	0	16688	1606	56	5	854	5	TTC23L	5	34867166	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1407230	34867166	146048094	372	52583											
NUP155	9631	broad.mit.edu	37	chr5	37294516	37294516	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgtattacgaagcccAcatcccagttcaaagtacaa	6	11	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:37294516A>G	uc003jku.1	-	33	3963	c.3845T>C	c.(3844-3846)GTG>GCG	p.V1282A	NUP155_uc003jkt.1_Missense_Mutation_p.V1223A|NUP155_uc010iuz.1_Missense_Mutation_p.V1218A	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	1282					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TACGAAGCCCACATCCCAGTT	0.338													G	37294516	A	G	37294516	3	3	75	1	0	0	0	0	1	0	0	0	10756	159	6	3	342	3	NUP155	5	37294516	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	2427350	37294516	143620744	373	52584											
EGFLAM	133584	broad.mit.edu	37	chr5	38407028	38407028	+	Frame_Shift_Del	DEL	C	C	-													aagaccatttctaggctcatCccccctacctcagcatctct							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:38407027_38407027TC>T	uc003jlc.2	+	7	1272	c.926_926TC>T	c.(925-927)atcfs	p.I309fs	EGFLAM_uc003jlb.2_Frame_Shift_Del_p.I309fs|EGFLAM_uc003jle.2_Frame_Shift_Del_p.I75fs|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	309						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TCTAGGCTCATCCCCCCTACC	0.483													-	38407028	C	-	38407028	7	5	75	1	0	1	0	1	0	0	0	0	4966	845	30	0	971	0	EGFLAM	5	38407028	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	1112512	38407028	142508232	374	52585											
LIFR	3977	broad.mit.edu	37	chr5	38502900	38502900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctttgattgtgacattcCgctattggaaaacaaataaa	6	8	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:38502900C>T	uc010ive.1	-	11	1771	c.1439G>A	c.(1438-1440)CGG>CAG	p.R480Q	LIFR_uc003jli.2_Missense_Mutation_p.R480Q	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	480	Extracellular (Potential).|Fibronectin type-III 3.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					TGTGACATTCCGCTATTGGAA	0.229			T	PLAG1	salivary adenoma								T	38502900	C	T	38502900	3	4	75	1	0	0	0	0	1	0	0	0	8780	666	23	1	1894	1	LIFR	5	38502900	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	95872	38502900	142412360	375	52586											
OXCT1	5019	broad.mit.edu	37	chr5	41807470	41807470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttttctccctttataaggCgatgtacataaatctgagga	7	7	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:41807470C>T	uc003jmn.2	-	8	1134	c.803G>A	c.(802-804)CGC>CAC	p.R268H		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	268					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)	CTTTATAAGGCGATGTACATA	0.363													T	41807470	C	T	41807470	3	4	75	1	0	0	0	0	1	0	0	0	11329	768	27	1	799	1	OXCT1	5	41807470	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3304570	41807470	139107790	376	52587											
ZNF131	7690	broad.mit.edu	37	chr5	43161649	43161649	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaccagcaagtaccgtcaaGgtgacagaaaagggcagatt	11	8	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:43161649G>T	uc011cpw.1	+	5	706	c.670G>T	c.(670-672)GGT>TGT	p.G224C	ZNF131_uc010ivl.1_Missense_Mutation_p.G224C|ZNF131_uc003jnj.3_Translation_Start_Site|ZNF131_uc003jnk.2_Missense_Mutation_p.G224C|ZNF131_uc003jnn.3_Translation_Start_Site|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	NM_003432	NP_003423	P52739	ZN131_HUMAN	zinc finger protein 131	224						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GTACCGTCAAGGTGACAGAAA	0.468													T	43161649	G	T	43161649	3	4	75	1	0	0	0	0	1	0	0	0	17718	1000	35	5	684	5	ZNF131	5	43161649	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1354179	43161649	137753611	377	52588											
SNX18	112574	broad.mit.edu	37	chr5	53814787	53814787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatctccgtgccccacctGcccgagaagcaggccaccgg	11	18	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:53814787G>A	uc003jpj.3	+	1	1195	c.1005G>A	c.(1003-1005)CTG>CTA	p.L335L	SNX18_uc011cqg.1_Silent_p.L335L|SNX18_uc003jpi.3_Silent_p.L335L	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	sorting nexin 18 isoform b	335	PX.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding				0		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TGCCCCACCTGCCCGAGAAGC	0.652													A	53814787	G	A	53814787	2	1	75	1	0	0	0	0	0	0	0	1	14889	1306	46	2		2	SNX18	5	53814787	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	10653138	53814787	127100473	378	52589											
PPWD1	23398	broad.mit.edu	37	chr5	64867925	64867926	+	Frame_Shift_Ins	INS	-	-	A													tcatgaatataaattccccaINSaaaatgtgaactgggaatat							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:64867924_64867925C>CA	uc003jtv.4	+	4	787_788	c.780_781C>CA	c.(778-783)cccaaafs	p.P260fs	PPWD1_uc011cqv.2_Frame_Shift_Ins_p.P230fs|PPWD1_uc011cqw.2_Frame_Shift_Ins_p.P104fs	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	Homo sapiens peptidylprolyl isomerase domain and WD repeat containing 1 (PPWD1), mRNA.	260					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		ATAAATTCCCCAAAAATGTGAA	0.396													A	64867926	-	A	64867925	7	5	75	1	0	1	1	0	0	0	0	0	12414	131	5	0	799	0	PPWD1	5	64867925	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	11053138	64867925	116047335	379	52590											
SGTB	54557	broad.mit.edu	37	chr5	65016588	65016588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccatctgactttgttccCgtaagaaacgaataactgca	7	10	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:65016588C>T	uc003jud.2	-	2	267	c.47G>A	c.(46-48)CGG>CAG	p.R16Q	NLN_uc003jue.2_5'Flank|NLN_uc003juf.2_5'Flank	NM_019072	NP_061945	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat	16	TPR 1.						binding				0		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		ACTTTGTTCCCGTAAGAAACG	0.338													T	65016588	C	T	65016588	3	4	75	1	0	0	0	0	1	0	0	0	14226	652	23	1	907	1	SGTB	5	65016588	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	148663	65016588	115898672	380	52591											
ERBB2IP	55914	broad.mit.edu	37	chr5	65350485	65350485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagagagttccactcagcGggaagaactcctccaatgat	9	11	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:65350485G>A	uc003juk.1	+	21	3647	c.3339G>A	c.(3337-3339)GCG>GCA	p.A1113A	ERBB2IP_uc003jui.1_Silent_p.A1113A|ERBB2IP_uc003juj.1_Silent_p.A1113A|ERBB2IP_uc011cqx.1_Silent_p.A1113A|ERBB2IP_uc011cqy.1_Silent_p.A1113A|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Silent_p.A1109A|ERBB2IP_uc003jul.1_Silent_p.A1109A	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	1113					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TCCACTCAGCGGGAAGAACTC	0.493													A	65350485	G	A	65350485	2	1	75	1	0	0	0	0	0	0	0	1	5207	1103	39	1		1	ERBB2IP	5	65350485	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	333897	65350485	115564775	381	52592											
MAST4	375449	broad.mit.edu	37	chr5	66461169	66461169	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtgaggcgaggcccccGcccagagacaactcctctct	11	17	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:66461169G>A	uc003jut.1	+	28	5663	c.5595G>A	c.(5593-5595)CCG>CCA	p.P1865P	MAST4_uc003juw.2_Silent_p.P1793P|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	2057						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R1865K(1)		lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CGAGGCCCCCGCCCAGAGACA	0.607													A	66461169	G	A	66461169	2	1	75	1	0	0	0	0	0	0	0	1	9327	1074	38	1		1	MAST4	5	66461169	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1110684	66461169	114454091	382	52593											
CMYA5	202333	broad.mit.edu	37	chr5	79025878	79025878	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggaagatgtgtattctgcTcaccattccatttctctgga	8	9	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:79025878T>G	uc003kgc.2	+	2	1362	c.1290T>G	c.(1288-1290)GCT>GCG	p.A430A		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	430						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGTATTCTGCTCACCATTCCA	0.488													G	79025878	T	G	79025878	2	3	75	1	0	0	0	0	0	0	0	1	3590	1538	54	5		5	CMYA5	5	79025878	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	12564709	79025878	101889382	383	52594											
CMYA5	202333	broad.mit.edu	37	chr5	79027433	79027433	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggacctttttctccagatTctgcatttgtgtcagaattc	7	9	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:79027433T>C	uc003kgc.2	+	2	2917	c.2845T>C	c.(2845-2847)TCT>CCT	p.S949P		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	949						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTCTCCAGATTCTGCATTTGT	0.388													C	79027433	T	C	79027433	3	2	75	1	0	0	0	0	1	0	0	0	3590	1783	62	3	2851	3	CMYA5	5	79027433	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1555	79027433	101887827	384	52595											
CMYA5	202333	broad.mit.edu	37	chr5	79029547	79029547	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacaaagtggatccataggTacaaaacaagcaaagtctcc	8	9	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:79029547T>C	uc003kgc.2	+	2	5031	c.4959T>C	c.(4957-4959)GGT>GGC	p.G1653G		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1653						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GATCCATAGGTACAAAACAAG	0.413													C	79029547	T	C	79029547	2	2	75	1	0	0	0	0	0	0	0	1	3590	1625	57	3		3	CMYA5	5	79029547	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	2114	79029547	101885713	385	52596											
EDIL3	10085	broad.mit.edu	37	chr5	83239319	83239319	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggaaggattcttatgtgTcgtgcatagatgggagggtc	15	5	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:83239319T>C	uc003kio.1	-	11	1781	c.1362A>G	c.(1360-1362)CGA>CGG	p.R454R	EDIL3_uc003kip.1_Silent_p.R444R	NM_005711	NP_005702	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like	454	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			skin(2)	2		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TTCTTATGTGTCGTGCATAGA	0.468													C	83239319	T	C	83239319	2	2	75	1	0	0	0	0	0	0	0	1	4915	1654	58	3		3	EDIL3	5	83239319	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	4209772	83239319	97675941	386	52597											
LYSMD3	116068	broad.mit.edu	37	chr5	89814797	89814797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtaaatgtgaagagtccaCtgttgaatgatgactaacat	9	5	0	5			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:89814797C>T	uc003kjr.2	-	3	908	c.760G>A	c.(760-762)GTG>ATG	p.V254M	LYSMD3_uc010jaz.1_Silent_p.Q95Q|LYSMD3_uc003kjs.1_3'UTR	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain	254	Cytoplasmic (Potential).				cell wall macromolecule catabolic process	integral to membrane					0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		GAAGAGTCCACTGTTGAATGA	0.348													T	89814797	C	T	89814797	3	4	75	1	0	0	0	0	1	0	0	0	9126	565	20	4	164	4	LYSMD3	5	89814797	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	6575478	89814797	91100463	387	52598											
ERAP2	64167	broad.mit.edu	37	chr5	96232522	96232522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtacttaaagaagttcagCtatagaaatgctaagaatga	8	5	1	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:96232522C>T	uc003kmq.2	+	9	2168	c.1458C>T	c.(1456-1458)AGC>AGT	p.S486S	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Silent_p.S486S|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Silent_p.S435S|ERAP2_uc003kmu.2_RNA	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	486	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		AGAAGTTCAGCTATAGAAATG	0.333													T	96232522	C	T	96232522	2	4	75	1	0	0	0	0	0	0	0	1	5204	796	28	2		2	ERAP2	5	96232522	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	6417725	96232522	84682738	388	52599											
FER	2241	broad.mit.edu	37	chr5	108523207	108523207	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaagtgttgggattataaAcctgaaaatcgccctaagtt	9	6	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:108523207A>G	uc003kop.1	+	20	2784	c.2400A>G	c.(2398-2400)AAA>AAG	p.K800K	FER_uc011cvg.1_Silent_p.K625K	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	800	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GGGATTATAAACCTGAAAATC	0.453													G	108523207	A	G	108523207	2	3	75	1	0	0	0	0	0	0	0	1	5813	40	2	3		3	FER	5	108523207	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	12290685	108523207	72392053	389	52600											
APC	324	broad.mit.edu	37	chr5	112178211	112178211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagatcaggatctagagattCgaccccttcaagacctgccc	8	13	3	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:112178211C>T	uc010jby.2	+	16	7300	c.6920C>T	c.(6919-6921)TCG>TTG	p.S2307L	APC_uc011cvt.1_Missense_Mutation_p.S2289L|APC_uc003kpz.3_Missense_Mutation_p.S2307L|APC_uc003kpy.3_Missense_Mutation_p.S2307L|APC_uc010jbz.2_Missense_Mutation_p.S2024L|APC_uc010jca.2_Missense_Mutation_p.S1607L	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2307	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCTAGAGATTCGACCCCTTCA	0.473		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			T	112178211	C	T	112178211	3	4	75	1	0	0	0	0	1	0	0	0	763	893	31	1	6978	1	APC	5	112178211	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3655004	112178211	68737049	390	52601											
DMXL1	1657	broad.mit.edu	37	chr5	118556667	118556667	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggttatacatgctcgtgAtgatttaacagctgttcaag	9	7	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:118556667A>G	uc003ksd.2	+	36	8286	c.8105A>G	c.(8104-8106)GAT>GGT	p.D2702G	DMXL1_uc010jcl.1_Missense_Mutation_p.D2723G	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2702										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CATGCTCGTGATGATTTAACA	0.383													G	118556667	A	G	118556667	3	3	75	1	0	0	0	0	1	0	0	0	4594	333	12	3	8247	3	DMXL1	5	118556667	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	6378456	118556667	62358593	391	52602											
RAPGEF6	51735	broad.mit.edu	37	chr5	130939000	130939000	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccactgtatctctcatagCgtgctcttgcagacattaat	7	11	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:130939000C>A	uc003kvn.1	-	3	367	c.161G>T	c.(160-162)CGC>CTC	p.R54L	RAPGEF6_uc003kvp.1_Missense_Mutation_p.R104L|RAPGEF6_uc003kvo.1_Missense_Mutation_p.R54L|RAPGEF6_uc010jdi.1_Missense_Mutation_p.R54L|RAPGEF6_uc010jdj.1_Missense_Mutation_p.R54L|RAPGEF6_uc003kvr.2_Missense_Mutation_p.R54L|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.R54L	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	54					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCTCTCATAGCGTGCTCTTGC	0.249													A	130939000	C	A	130939000	3	1	75	1	0	0	0	0	1	0	0	0	13048	768	27	5	5234	5	RAPGEF6	5	130939000	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	12382333	130939000	49976260	392	52603											
PDLIM4	8572	broad.mit.edu	37	chr5	131607542	131607542	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacggccagcaagctgggCgctccgctgagcggcctgca	14	17	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:131607542C>T	uc003kwn.2	+	6	806	c.729C>T	c.(727-729)GGC>GGT	p.G243G	uc003kwm.3_Intron|PDLIM4_uc003kwp.2_Intron|PDLIM4_uc003kwo.2_Silent_p.G351G	NM_003687	NP_003678	P50479	PDLI4_HUMAN	PDZ and LIM domain 4 isoform 1	243							protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAAGCTGGGCGCTCCGCTGA	0.721													T	131607542	C	T	131607542	2	4	75	1	0	0	0	0	0	0	0	1	11682	755	27	1		1	PDLIM4	5	131607542	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	668542	131607542	49307718	393	52604											
C5orf15	56951	broad.mit.edu	37	chr5	133304225	133304225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatggccgacccgggcagCagtttcgcttgtgctggccc	15	13	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:133304225C>T	uc003kyo.2	-	1	182	c.51G>A	c.(49-51)CTG>CTA	p.L17L		NM_020199	NP_064584	Q8NC54	KCT2_HUMAN	keratinocytes associated transmembrane protein 2	17						integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			ACCCGGGCAGCAGTTTCGCTT	0.667													T	133304225	C	T	133304225	2	4	75	1	0	0	0	0	0	0	0	1	2283	697	25	2		2	C5orf15	5	133304225	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1696683	133304225	47611035	394	52605											
MATR3	9782	broad.mit.edu	37	chr5	138650379	138650379	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggagtggagtcaacatAtcaatggagcaagtcacagt	12	7	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:138650379A>G	uc003ldu.2	+	6	1355	c.928A>G	c.(928-930)ATC>GTC	p.I310V	MATR3_uc010jfb.2_Missense_Mutation_p.I310V|MATR3_uc003ldt.2_Translation_Start_Site|MATR3_uc003ldw.2_Missense_Mutation_p.I310V|MATR3_uc003ldx.2_Missense_Mutation_p.I310V|MATR3_uc010jfc.2_Missense_Mutation_p.I310V|MATR3_uc003ldy.2_Translation_Start_Site|MATR3_uc011czb.1_Missense_Mutation_p.I22V|MATR3_uc003ldz.2_Missense_Mutation_p.I310V|MATR3_uc003lea.2_Missense_Mutation_p.I310V|MATR3_uc003leb.2_Translation_Start_Site|MATR3_uc003lec.2_Translation_Start_Site	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	310						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAGTCAACATATCAATGGAGC	0.348													G	138650379	A	G	138650379	3	3	75	1	0	0	0	0	1	0	0	0	9337	449	16	3	934	3	MATR3	5	138650379	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	5346154	138650379	42264881	395	52606											
NRG2	9542	broad.mit.edu	37	chr5	139231224	139231224	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcgcgaagggagtccacGgaatcgtgatagggtggcgc	18	8	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:139231224G>A	uc003lex.1	-	9	1962	c.1737C>T	c.(1735-1737)TCC>TCT	p.S579S	NRG2_uc003lev.1_Silent_p.S587S|NRG2_uc003lew.1_Silent_p.S581S|NRG2_uc003ley.1_Silent_p.S573S	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	579	Cytoplasmic (Potential).				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|breast(2)|ovary(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGTCCACGGAATCGTGAT	0.657													A	139231224	G	A	139231224	2	1	75	1	0	0	0	0	0	0	0	1	10648	1103	39	1		1	NRG2	5	139231224	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	580845	139231224	41684036	396	52607											
APBB3	10307	broad.mit.edu	37	chr5	139942072	139942072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctacccagcccagagagcGgactgcaaagcactgacagg	11	14	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:139942072G>A	uc003lgd.1	-	5	723	c.364C>T	c.(364-366)CGC>TGC	p.R122C	APBB3_uc003lgb.1_5'UTR|APBB3_uc003lgc.1_5'UTR|APBB3_uc003lge.1_Missense_Mutation_p.R122C|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_5'UTR|APBB3_uc010jfq.1_5'Flank|SLC35A4_uc003lgg.1_5'Flank|SLC35A4_uc003lgh.1_5'Flank	NM_133172	NP_573418	O95704	APBB3_HUMAN	amyloid beta precursor protein-binding, family	122	PID 1.					actin cytoskeleton|cytoplasm				ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGAGAGCGGACTGCAAAG	0.552													A	139942072	G	A	139942072	3	1	75	1	0	0	0	0	1	0	0	0	762	1116	39	1	1149	1	APBB3	5	139942072	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	710848	139942072	40973188	397	52608											
HARS	3035	broad.mit.edu	37	chr5	140056256	140056256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctctagtctctgttccaCgatggagaaaatccgctcca	7	13	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:140056256C>T	uc003lgv.2	-	10	1259	c.1177G>A	c.(1177-1179)GTG>ATG	p.V393M	HARS_uc003lgu.2_Missense_Mutation_p.V324M|HARS_uc011czm.1_Missense_Mutation_p.V353M|HARS_uc003lgw.2_Missense_Mutation_p.V373M|HARS_uc011czn.1_Missense_Mutation_p.V333M|HARS_uc010jfu.2_Missense_Mutation_p.V393M|HARS_uc011czo.1_Missense_Mutation_p.V319M|HARS_uc011czp.1_Missense_Mutation_p.V279M|HARS_uc011czq.1_Missense_Mutation_p.V283M	NM_002109	NP_002100	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	393					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CTCTGTTCCACGATGGAGAAA	0.557													T	140056256	C	T	140056256	3	4	75	1	0	0	0	0	1	0	0	0	6959	536	19	1	368	1	HARS	5	140056256	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	114184	140056256	40859004	398	52609											
PCDHAC2	56134	broad.mit.edu	37	chr5	140181371	140181371	+	Frame_Shift_Del	DEL	A	A	-													aatcccttggactcgtgttgAaaaaaaatttaaatcgagag							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:140181370_140181370GA>G	uc003lhf.2	+	0	588	c.588_588GA>G	c.(586-588)ttgfs	p.L196fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Frame_Shift_Del_p.L196fs	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	211	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCGTGTTGAAAAAAAATT	0.363													-	140181371	A	-	140181371	7	5	75	1	0	1	0	1	0	0	0	0	11533	247	9	0		0	PCDHAC2	5	140181371	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	125115	140181371	40733889	399	52610											
PCDHA9	9752	broad.mit.edu	37	chr5	140229932	140229932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagccagaaacggccagcGcgagcatcccgttccgcgtg	13	15	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:140229932G>A	uc003lhu.2	+	1	2576	c.1852G>A	c.(1852-1854)GCG>ACG	p.A618T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.A618T	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	618	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGGCCAGCGCGAGCATCCC	0.682													A	140229932	G	A	140229932	3	1	75	1	0	0	0	0	1	0	0	0	11531	1087	38	1	1854	1	PCDHA9	5	140229932	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	48561	140229932	40685328	400	52611											
PCDHAC2	56134	broad.mit.edu	37	chr5	140348878	140348878	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggtcagaatgctgggaacCtgattattctcaaaaatgag	11	6	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:140348878C>A	uc003lii.2	+	1	2767	c.2527C>A	c.(2527-2529)CTG>ATG	p.L843M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.L843M	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	843	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGGAACCTGATTATTCT	0.502													A	140348878	C	A	140348878	3	1	75	1	0	0	0	0	1	0	0	0	11533	680	24	5	2529	5	PCDHAC2	5	140348878	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	118946	140348878	40566382	401	52612											
PCDHB7	56129	broad.mit.edu	37	chr5	140553092	140553092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctccaagatcagggaccGccctcgtgcgcattctggtt	10	15	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:140553092G>A	uc003lit.2	+	1	850	c.676G>A	c.(676-678)GCC>ACC	p.A226T		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	226	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCAGGGACCGCCCTCGTGCG	0.542													A	140553092	G	A	140553092	3	1	75	1	0	0	0	0	1	0	0	0	11547	1087	38	1	678	1	PCDHB7	5	140553092	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	204214	140553092	40362168	402	52613											
PCDHB9	56127	broad.mit.edu	37	chr5	140567582	140567582	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggacctccactatacgcatTgtggtcttggatgtcaatga	11	9	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:140567582T>C	uc003liw.1	+	1	690	c.690T>C	c.(688-690)ATT>ATC	p.I230I		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	230	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATACGCATTGTGGTCTTGG	0.532													C	140567582	T	C	140567582	2	2	75	1	0	0	0	0	0	0	0	1	11549	1800	63	3		3	PCDHB9	5	140567582	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	14490	140567582	40347678	403	52614											
PCDHB11	56125	broad.mit.edu	37	chr5	140581696	140581696	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtcttgggaagaatagTgaagaaaactccacctttcg	10	7	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:140581696T>C	uc003liy.2	+	1	2349	c.2349T>C	c.(2347-2349)AGT>AGC	p.S783S	PCDHB11_uc011daj.1_Silent_p.S418S	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	783	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAAGAATAGTGAAGAAAACT	0.358													C	140581696	T	C	140581696	2	2	75	1	0	0	0	0	0	0	0	1	11536	1693	59	3		3	PCDHB11	5	140581696	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	14114	140581696	40333564	404	52615											
PCDHB14	56122	broad.mit.edu	37	chr5	140605247	140605247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagggcggcctcggtgggtCgctgctcggtgcccgagggt	20	12	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:140605247C>T	uc003ljb.2	+	1	2170	c.2170C>T	c.(2170-2172)CGC>TGC	p.R724C	PCDHB14_uc011dal.1_Missense_Mutation_p.R571C	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	724	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGTGGGTCGCTGCTCGGT	0.667													T	140605247	C	T	140605247	3	4	75	1	0	0	0	0	1	0	0	0	11539	884	31	1	2172	1	PCDHB14	5	140605247	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	23551	140605247	40310013	405	52616											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720764	140720764	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagctcgcactttgtgggCgtggacggggttcgggcttt	17	9	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:140720764C>T	uc003ljk.1	+	1	2411	c.2226C>T	c.(2224-2226)GGC>GGT	p.G742G	PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Silent_p.G742G|PCDHGA3_uc011dap.1_5'Flank	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	742	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTTGTGGGCGTGGACGGGG	0.627													T	140720764	C	T	140720764	2	4	75	1	0	0	0	0	0	0	0	1	11554	755	27	1		1	PCDHGA2	5	140720764	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	115517	140720764	40194496	406	52617											
PCDHGB5	56101	broad.mit.edu	37	chr5	140779519	140779519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accacgtgctgcaggctagcGagcccgggctcttcagcctg	13	15	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:140779519G>A	uc003lkf.1	+	1	1825	c.1825G>A	c.(1825-1827)GAG>AAG	p.E609K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.E609K	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	609	Cadherin 6.|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)			GCAGGCTAGCGAGCCCGGGCT	0.697													A	140779519	G	A	140779519	3	1	75	1	0	0	0	0	1	0	0	0	11566	1059	37	1	1827	1	PCDHGB5	5	140779519	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	58755	140779519	40135741	407	52618											
PCDHGA10	56106	broad.mit.edu	37	chr5	140794641	140794641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggcgaggtgcgcacggcGcgagccctgctggacagaga	18	12	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:140794641G>A	uc003lkl.1	+	1	1899	c.1899G>A	c.(1897-1899)GCG>GCA	p.A633A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.A633A|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	633	Cadherin 6.|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)			TGCGCACGGCGCGAGCCCTGC	0.697													A	140794641	G	A	140794641	2	1	75	1	0	0	0	0	0	0	0	1	11551	1074	38	1		1	PCDHGA10	5	140794641	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	15122	140794641	40120619	408	52619											
ABLIM3	22885	broad.mit.edu	37	chr5	148619447	148619447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctcaccactactaccgCtctggtaaggaagggggagg	12	12	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:148619447C>T	uc003lpy.2	+	13	1451	c.1200C>T	c.(1198-1200)CGC>CGT	p.R400R	ABLIM3_uc003lpz.1_Silent_p.R400R|ABLIM3_uc003lqa.1_Silent_p.R346R|ABLIM3_uc003lqb.2_Silent_p.R338R|ABLIM3_uc003lqc.1_Silent_p.R400R|ABLIM3_uc003lqd.1_Silent_p.R338R|ABLIM3_uc003lqf.2_Silent_p.R338R|ABLIM3_uc003lqe.1_Silent_p.R338R	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	400					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTACTACCGCTCTGGTAAGG	0.642													T	148619447	C	T	148619447	2	4	75	1	0	0	0	0	0	0	0	1	96	784	28	2		2	ABLIM3	5	148619447	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	7824806	148619447	32295813	409	52620											
ZNF300	91975	broad.mit.edu	37	chr5	150276528	150276528	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgggagttgtgaaggttactCttcctgtctaaaagaagaaa	11	5	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:150276528C>T	uc003lsy.1	-	6	540	c.273G>A	c.(271-273)AAG>AAA	p.K91K	IRGM_uc011dcl.1_Intron	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	zinc finger protein 300	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGGTTACTCTTCCTGTCTA	0.373													T	150276528	C	T	150276528	2	4	75	1	0	0	0	0	0	0	0	1	17828	912	32	4		4	ZNF300	5	150276528	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1657081	150276528	30638732	410	52621											
SLC36A1	206358	broad.mit.edu	37	chr5	150847389	150847389	+	Frame_Shift_Del	DEL	T	T	-													gcccttcctggtgctgctggTtttcatcaggaacctccgag							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:150847388_150847388GT>G	uc003luc.3	+	6	842	c.625_625GT>G	c.(625-627)gttfs	p.V209fs	SLC36A1_uc003lub.1_Frame_Shift_Del_p.V209fs|SLC36A1_uc010jhw.1_Frame_Shift_Del_p.V209fs	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 1 (SLC36A1), mRNA.	209					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	GGTGCTGCTGGTTTTCATCAG	0.527													-	150847389	T	-	150847389	7	5	75	1	0	1	0	1	0	0	0	0	14593	1725	60	0	648	0	SLC36A1	5	150847389	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	570861	150847389	30067871	411	52622											
HAVCR1	26762	broad.mit.edu	37	chr5	156479604	156479604	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgtcgttggaacagtggtGctcgttcgaacagtcgtgac	14	8	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:156479604G>T	uc010jij.1	-	4	626	c.441C>A	c.(439-441)AGC>AGA	p.S147R	HAVCR1_uc011ddl.1_5'UTR|HAVCR1_uc003lwi.2_Missense_Mutation_p.S147R|HAVCR1_uc011ddm.1_Missense_Mutation_p.S147R	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	147	Extracellular (Potential).|11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.|2.				interspecies interaction between organisms	integral to membrane	receptor activity			ovary(1)|skin(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAACAGTGGTGCTCGTTCGAA	0.473													T	156479604	G	T	156479604	3	4	75	1	0	0	0	0	1	0	0	0	6973	1310	46	5	677	5	HAVCR1	5	156479604	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	5632215	156479604	24435656	412	52623											
CYFIP2	26999	broad.mit.edu	37	chr5	156721849	156721849	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtacacctggcgcagcTgttcccgggccattcccagg	12	15	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:156721849T>G	uc003lwq.2	+	4	403	c.265T>G	c.(265-267)TGT>GGT	p.C89G	CYFIP2_uc011ddn.1_Intron|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Missense_Mutation_p.C89G|CYFIP2_uc003lws.2_Missense_Mutation_p.C89G|CYFIP2_uc003lwt.2_5'Flank|CYFIP2_uc011ddp.1_5'Flank|CYFIP2_uc003lwp.2_5'UTR	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	89					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGGCGCAGCTGTTCCCGGGC	0.537													G	156721849	T	G	156721849	3	3	75	1	0	0	0	0	1	0	0	0	4138	1580	55	5	275	5	CYFIP2	5	156721849	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	242245	156721849	24193411	413	52624											
RNF145	153830	broad.mit.edu	37	chr5	158596066	158596066	+	Splice_Site	DEL	A	A	-													actccttctgtcatgcccctAaaaaaagcatacattttcag							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:158596065_158596065TA>T	uc010jiq.2	-	8	1179	c.1029_splice	c.e8-1	p.R343_splice	RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	313						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATGCCCCTAAAAAAAGCA	0.363													-	158596066	A	-	158596066	8	5	75	1	0	1	0	1	0	0	1	0	13447	377	13	0		0	RNF145	5	158596066	Splice_Site	DEL	A	TCGA-BR-8363-01A-11D-2340-08	1874217	158596066	22319194	414	52625											
IL12B	3593	broad.mit.edu	37	chr5	158749469	158749469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccaccagcaggtgaaacGtccagaataattcttggcct	9	12	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:158749469G>A	uc003lxr.1	-	4	457	c.415C>T	c.(415-417)CGT>TGT	p.R139C		NM_002187	NP_002178	P29460	IL12B_HUMAN	interleukin 12B precursor	139					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGTGAAACGTCCAGAATAA	0.388													A	158749469	G	A	158749469	3	1	75	1	0	0	0	0	1	0	0	0	7625	1145	40	1	587	1	IL12B	5	158749469	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	153403	158749469	22165791	415	52626											
GABRG2	2566	broad.mit.edu	37	chr5	161495078	161495078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattttcacagaaaatgacgGtgtggattctgctcctgctg	10	8	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:161495078G>A	uc003lyz.3	+	1	431	c.73G>A	c.(73-75)GTG>ATG	p.V25M	GABRG2_uc010jjc.2_Missense_Mutation_p.V25M|GABRG2_uc003lyy.3_Missense_Mutation_p.V25M|GABRG2_uc011dej.1_Translation_Start_Site	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	25					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GAAAATGACGGTGTGGATTCT	0.493													A	161495078	G	A	161495078	3	1	75	1	0	0	0	0	1	0	0	0	6172	1261	44	4	75	4	GABRG2	5	161495078	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2745609	161495078	19420182	416	52627											
NSD1	64324	broad.mit.edu	37	chr5	176721436	176721436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggaaagacctctggggaCggctgacccaaggctggata	14	10	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:176721436C>T	uc003mfr.3	+	23	7205	c.7067C>T	c.(7066-7068)ACG>ATG	p.T2356M	NSD1_uc003mft.3_Missense_Mutation_p.T2087M|NSD1_uc011dfx.1_Missense_Mutation_p.T2004M	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2356	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCTCTGGGGACGGCTGACCCA	0.602			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			T	176721436	C	T	176721436	3	4	75	1	0	0	0	0	1	0	0	0	10669	536	19	1	7153	1	NSD1	5	176721436	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	15226358	176721436	4193824	417	52628											
NSD1	64324	broad.mit.edu	37	chr5	176721771	176721771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taactcctcgccagaaggagCgggcagcttcacctcatcag	10	14	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:176721771C>T	uc003mfr.3	+	23	7540	c.7402C>T	c.(7402-7404)CGG>TGG	p.R2468W	NSD1_uc003mft.3_Missense_Mutation_p.R2199W|NSD1_uc011dfx.1_Missense_Mutation_p.R2116W	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2468					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCAGAAGGAGCGGGCAGCTTC	0.507			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			T	176721771	C	T	176721771	3	4	75	1	0	0	0	0	1	0	0	0	10669	759	27	1	7488	1	NSD1	5	176721771	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	335	176721771	4193489	418	52629											
PFN3	345456	broad.mit.edu	37	chr5	176827207	176827207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtatgagttcgtgcaccGtcttgttgaggatgccccca	12	12	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:176827207G>A	uc003mgl.2	-	1	431	c.371C>T	c.(370-372)ACG>ATG	p.T124M		NM_001029886	NP_001025057	P60673	PROF3_HUMAN	profilin 3	124					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCGTGCACCGTCTTGTTGAG	0.706													A	176827207	G	A	176827207	3	1	75	1	0	0	0	0	1	0	0	0	11769	1145	40	1	46	1	PFN3	5	176827207	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	105436	176827207	4088053	419	52630											
GRK6	2870	broad.mit.edu	37	chr5	176868759	176868759	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attgctgtggaaactgcagcGacagcgaggaagagctcccc	13	11	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:176868759G>A	uc011dfz.1	+	17	1861	c.1701G>A	c.(1699-1701)GCG>GCA	p.A567A	uc003mgt.2_Intron	NM_002082	NP_002073	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6 isoform B	Error:Variant_position_missing_in_P43250_after_alignment					regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)|stomach(1)|breast(1)	3	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAACTGCAGCGACAGCGAGGA	0.642													A	176868759	G	A	176868759	2	1	75	1	0	0	0	0	0	0	0	1	6793	1058	37	1		1	GRK6	5	176868759	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	41552	176868759	4046501	420	52631											
RASGEF1C	255426	broad.mit.edu	37	chr5	179545688	179545688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagttgcagaaattccccGttgggtccatctggtgctgg	13	9	1	1	rs145725435		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:179545688G>A	uc003mlq.2	-	9	1301	c.1004C>T	c.(1003-1005)ACG>ATG	p.T335M	RASGEF1C_uc003mlr.2_Missense_Mutation_p.T335M|RASGEF1C_uc003mlp.3_Missense_Mutation_p.T184M	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	335	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAATTCCCCGTTGGGTCCAT	0.662													A	179545688	G	A	179545688	3	1	75	1	0	0	0	0	1	0	0	0	13071	1145	40	1	416	1	RASGEF1C	5	179545688	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2676929	179545688	1369572	421	52632											
RASGEF1C	255426	broad.mit.edu	37	chr5	179563481	179563481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtccactcggccaacagcTgcagcagtttggggccgaac	13	14	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:179563481T>C	uc003mlq.2	-	3	632	c.335A>G	c.(334-336)CAG>CGG	p.Q112R	RASGEF1C_uc003mlr.2_Missense_Mutation_p.Q112R|RASGEF1C_uc003mlp.3_5'UTR	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	112	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCAACAGCTGCAGCAGTTT	0.682													C	179563481	T	C	179563481	3	2	75	1	0	0	0	0	1	0	0	0	13071	1580	55	3	1109	3	RASGEF1C	5	179563481	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	17793	179563481	1351779	422	52633											
FLT4	2324	broad.mit.edu	37	chr5	180048230	180048230	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggtcggtcaagttctgCgtgagccgaggggcttccag	17	9	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:180048230C>T	uc003mma.3	-	14	2122	c.2043G>A	c.(2041-2043)ACG>ACA	p.T681T	FLT4_uc003mlz.3_Silent_p.T681T|FLT4_uc003mmb.1_Silent_p.T214T|FLT4_uc011dgy.1_Silent_p.T681T	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	681	Ig-like C2-type 7.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCAAGTTCTGCGTGAGCCGAG	0.637									Congenital_Hereditary_Lymphedema				T	180048230	C	T	180048230	2	4	75	1	0	0	0	0	0	0	0	1	5944	755	27	1		1	FLT4	5	180048230	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	484749	180048230	867030	423	52634											
HUS1B	135458	broad.mit.edu	37	chr6	656447	656447	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccatcctctccacgatgctCctcagcgtcctccagcgcgg	9	19	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:656447C>T	uc003mtg.2	-	1	518	c.498G>A	c.(496-498)AGG>AGA	p.R166R	EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint protein B	166											0	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CCACGATGCTCCTCAGCGTCC	0.667													T	656447	C	T	656447	2	4	75	1	0	0	0	0	0	0	0	1	7460	854	30	4		4	HUS1B	6	656447	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08		656447	170458620	424	52635											
RREB1	6239	broad.mit.edu	37	chr6	7230996	7230996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcgatcaagttggagccCgccagtagctttgcggtgga	14	10	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:7230996C>T	uc003mxc.2	+	10	3054	c.2664C>T	c.(2662-2664)CCC>CCT	p.P888P	RREB1_uc003mxb.2_Silent_p.P888P|RREB1_uc010jnx.2_Silent_p.P888P	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	888					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGTTGGAGCCCGCCAGTAGCT	0.597													T	7230996	C	T	7230996	2	4	75	1	0	0	0	0	0	0	0	1	13679	639	23	1		1	RREB1	6	7230996	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	6574549	7230996	163884071	425	52636											
DSP	1832	broad.mit.edu	37	chr6	7559542	7559542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggccagctccaagggtgGtggaggctacacttgtcaga	15	10	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:7559542G>A	uc003mxp.1	+	4	785	c.506G>A	c.(505-507)GGT>GAT	p.G169D	DSP_uc003mxq.1_Missense_Mutation_p.G169D	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	169	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCCAAGGGTGGTGGAGGCTAC	0.532													A	7559542	G	A	7559542	3	1	75	1	0	0	0	0	1	0	0	0	4781	1261	44	4	520	4	DSP	6	7559542	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	328546	7559542	163555525	426	52637											
ELOVL2	54898	broad.mit.edu	37	chr6	10990652	10990652	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataagaatgtggataaaacTgttcagtgttggtccaaaga	10	5	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:10990652T>C	uc003mzp.3	-	6	690	c.529A>G	c.(529-531)AGT>GGT	p.S177G		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	elongation of very long chain fatty acids-like	177	Helical; (Potential).				fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TGGATAAAACTGTTCAGTGTT	0.373													C	10990652	T	C	10990652	3	2	75	1	0	0	0	0	1	0	0	0	5074	1580	55	3	373	3	ELOVL2	6	10990652	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	3431110	10990652	160124415	427	52638											
DTNBP1	84062	broad.mit.edu	37	chr6	15651580	15651580	+	Frame_Shift_Del	DEL	A	A	-													atccagcagagtactttggcAaaaatggaacagtcctgccc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:15651579_15651579CA>C	uc003nbm.3	-	2	315	c.126_126TG>G	c.(124-126)ttgfs	p.L42fs	DTNBP1_uc003nbl.3_5'UTR|DTNBP1_uc010jph.3_Frame_Shift_Del_p.L29fs|DTNBP1_uc003nbp.3_Frame_Shift_Del_p.L42fs	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	42					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			AGTACTTTGGCAAAAATGGAA	0.313									Hermansky-Pudlak syndrome				-	15651580	A	-	15651580	7	5	75	1	0	1	0	1	0	0	0	0	4790	131	5	0	1063	0	DTNBP1	6	15651580	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	4660928	15651580	155463487	428	52639											
KIF13A	63971	broad.mit.edu	37	chr6	17788023	17788024	+	Frame_Shift_Ins	INS	-	-	T													tacctgttttattgctgactINSttttttatctgttcatccag							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:17788022_17788023C>CT	uc003ncg.4	-	26	3505_3506	c.3345_3346G>AG	c.(3343-3348)aaagtcfs	p.K1115fs	KIF13A_uc003ncf.3_Frame_Shift_Ins_p.K1102fs|KIF13A_uc003nch.4_Frame_Shift_Ins_p.K1115fs|KIF13A_uc003nci.4_Frame_Shift_Ins_p.K1102fs	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1115					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTATTGCTGACTTTTTTTATCT	0.416													T	17788024	-	T	17788023	7	5	75	1	0	1	1	0	0	0	0	0	8274	1606	56	0	2149	0	KIF13A	6	17788023	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	2136443	17788023	153327044	429	52640											
GPLD1	2822	broad.mit.edu	37	chr6	24437410	24437410	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagcggcggtctccgcTgaaggtgctgagcagcagag	18	9	1	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:24437410T>G	uc003ned.1	-	21	2239	c.2128A>C	c.(2128-2130)AGC>CGC	p.S710R		NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	710	FG-GAP 6.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						CGGTCTCCGCTGAAGGTGCTG	0.562													G	24437410	T	G	24437410	3	3	75	1	0	0	0	0	1	0	0	0	6614	1580	55	5	414	5	GPLD1	6	24437410	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	6649387	24437410	146677657	430	52641											
BTN3A2	11118	broad.mit.edu	37	chr6	26370798	26370798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcagaaattccctcctcGgcctggaaaagacagccagc	8	14	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:26370798G>A	uc010jqh.1	+	5	941	c.682G>A	c.(682-684)GGC>AGC	p.G228S	BTN3A2_uc003nho.1_Missense_Mutation_p.G226S|BTN3A2_uc003nhp.2_Missense_Mutation_p.G228S|BTN3A2_uc011dkd.1_Missense_Mutation_p.G186S|BTN3A2_uc011dke.1_Missense_Mutation_p.G205S|BTN3A2_uc010jqi.1_Missense_Mutation_p.G226S	NM_007047	NP_008978	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2 precursor	228	Extracellular (Potential).					integral to membrane					0						TTCCCTCCTCGGCCTGGAAAA	0.537													A	26370798	G	A	26370798	3	1	75	1	0	0	0	0	1	0	0	0	1563	1116	39	1	692	1	BTN3A2	6	26370798	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1933388	26370798	144744269	431	52642											
VARS2	57176	broad.mit.edu	37	chr6	30883933	30883933	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatccaactgcaggctgTggtggagaaacaactgtgga	13	8	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:30883933T>C	uc003nsc.1	+	6	1210	c.578T>C	c.(577-579)GTG>GCG	p.V193A	VARS2_uc003nsd.2_Missense_Mutation_p.V193A|VARS2_uc011dmx.1_Missense_Mutation_p.V193A|VARS2_uc011dmy.1_Missense_Mutation_p.V53A|VARS2_uc011dmz.1_Missense_Mutation_p.V223A|VARS2_uc011dna.1_Missense_Mutation_p.V193A|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'Flank	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	193					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						CTGCAGGCTGTGGTGGAGAAA	0.522													C	30883933	T	C	30883933	3	2	75	1	0	0	0	0	1	0	0	0	17121	1696	59	3	694	3	VARS2	6	30883933	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	4513135	30883933	140231134	432	52643											
HLA-C	3107	broad.mit.edu	37	chr6	31323363	31323364	+	Frame_Shift_Ins	INS	-	-	G													gtgggtcacgtgtgtctttgINSgggggtctgatgggaagagt					rs77061046		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:31323362_31323363T>TG	uc003nth.2	-	3	680_681	c.626_627A>CA	c.(625-627)ccafs	p.P209fs	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Frame_Shift_Ins_p.P88fs|HLA-C_uc003nti.1_Non-coding_Transcript|HLA-C_uc010jsn.1_Non-coding_Transcript|HLA-C_uc010jso.2_3'UTR|HLA-C_uc021yum.1_3'UTR	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	209	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CGTGTGTCTTTGGGGGGTCTGA	0.579													G	31323364	-	G	31323363	7	5	75	1	0	1	1	0	0	0	0	0	7197	1348	47	0		0	HLA-C	6	31323363	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	439430	31323363	139791704	433	52644											
RDBP	7936	broad.mit.edu	37	chr6	31922410	31922410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggtctcgatctcgatcccGatcccgatccctgtcccgct	8	19	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:31922410G>A	uc003nyk.2	-	7	868	c.664C>T	c.(664-666)CGG>TGG	p.R222W	RDBP_uc011dot.1_Missense_Mutation_p.R192W|RDBP_uc003nyl.1_Missense_Mutation_p.R162W|RDBP_uc003nym.1_Missense_Mutation_p.R217W	NM_002904	NP_002895	P18615	NELFE_HUMAN	RD RNA-binding protein	222	20.|30 X 2 AA approximate tandem repeats of R-[DSNE].				positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						tctcgatcccgatcccgatcc	0.144													A	31922410	G	A	31922410	3	1	75	1	0	0	0	0	1	0	0	0	13188	1057	37	1	498	1	RDBP	6	31922410	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	599047	31922410	139192657	434	52645											
PBX2	5089	broad.mit.edu	37	chr6	32157508	32157508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggctctggtcggtgatgGtcattatctgctgcagaatg	13	9	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:32157508G>A	uc003oav.1	-	1	456	c.185C>T	c.(184-186)ACC>ATC	p.T62I	PBX2_uc003oaw.2_Missense_Mutation_p.T62I	NM_002586	NP_002577	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	62							transcription factor binding			ovary(1)	1						GTCGGTGATGGTCATTATCTG	0.657													A	32157508	G	A	32157508	3	1	75	1	0	0	0	0	1	0	0	0	11493	1261	44	4	1143	4	PBX2	6	32157508	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	235098	32157508	138957559	435	52646											
BRD2	6046	broad.mit.edu	37	chr6	32945969	32945970	+	Frame_Shift_Del	DEL	AG	AG	-													tatccaagcccaagaggaaaAgagagaaaaaagagaaaaag							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:32945968_32945969AAG>A	uc010juh.3	+	8	2948_2949	c.1644_1645AAG>A	c.(1642-1647)aaaagafs	p.K548fs	BRD2_uc003ocn.4_Frame_Shift_Del_p.K548fs|BRD2_uc003oco.3_Non-coding_Transcript|BRD2_uc003ocp.4_Frame_Shift_Del_p.K428fs|BRD2_uc003ocq.4_Frame_Shift_Del_p.K548fs|BRD2_uc021ywf.1_Frame_Shift_Del_p.K501fs	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	548	Arg/Lys-rich (highly basic).				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CCAAGAGGAAAAGAGAGAAAAA	0.5													-	32945970	AG	-	32945969	7	5	75	1	0	1	0	1	0	0	0	0	1502	64	3	0	1679	0	BRD2	6	32945969	Frame_Shift_Del	DEL	AG	TCGA-BR-8363-01A-11D-2340-08	788461	32945969	138169098	436	52647											
B3GALT4	8705	broad.mit.edu	37	chr6	33245588	33245588	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggagtgacctggcctcggAgtcagcagcccagggggata	18	10	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:33245588A>G	uc003odr.2	+	1	672	c.392A>G	c.(391-393)GAG>GGG	p.E131G		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	131	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2						CTGGCCTCGGAGTCAGCAGCC	0.647													G	33245588	A	G	33245588	3	3	75	1	0	0	0	0	1	0	0	0	1249	304	11	3	394	3	B3GALT4	6	33245588	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	299619	33245588	137869479	437	52648											
SYNGAP1	8831	broad.mit.edu	37	chr6	33409508	33409508	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggccatcggctgagatgCagggctacatgatgcgggac	18	9	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:33409508C>T	uc011dri.1	+	13	2461	c.2266C>T	c.(2266-2268)CAG>TAG	p.Q756*	SYNGAP1_uc010juy.2_Nonsense_Mutation_p.Q741*|SYNGAP1_uc010juz.2_Nonsense_Mutation_p.Q468*	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	756					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						GGCTGAGATGCAGGGCTACAT	0.632													T	33409508	C	T	33409508	4	4	75	1	0	0	0	0	0	1	0	0	15444	711	25	2	2316	2	SYNGAP1	6	33409508	Nonsense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	163920	33409508	137705559	438	52649											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34839369	34839369	+	Frame_Shift_Del	DEL	C	C	-													tctttcctgcaggatgatatCccccccatctatccaacatc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:34839368_34839368TC>T	uc003oju.4	+	18	4223	c.3989_3989TC>T	c.(3988-3990)atcfs	p.I1330fs	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	1330										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CAGGATGATATCCCCCCCATC	0.512													-	34839369	C	-	34839369	7	5	75	1	0	1	0	1	0	0	0	0	16965	845	30	0	4064	0	UHRF1BP1	6	34839369	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	1429861	34839369	136275698	439	52650											
CDKN1A	1026	broad.mit.edu	37	chr6	36651917	36651917	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtccgtcagaacccatgCggcagcaaggcctgccgccg	13	15	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:36651917C>T	uc003omm.3	+	2	161	c.39C>T	c.(37-39)TGC>TGT	p.C13C	CDKN1A_uc011dtq.1_Silent_p.C47C|CDKN1A_uc003oml.2_Silent_p.C13C|CDKN1A_uc003omn.2_Silent_p.C13C	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	13	C4-type (Potential).				cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						AGAACCCATGCGGCAGCAAGG	0.637									Multiple_Endocrine_Neoplasia_type_1				T	36651917	C	T	36651917	2	4	75	1	0	0	0	0	0	0	0	1	3158	776	27	1		1	CDKN1A	6	36651917	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1812548	36651917	134463150	440	52651											
KCNK5	8645	broad.mit.edu	37	chr6	39158873	39158873	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacttggaggtctcctcGtctgagaggccagcctccgt	14	12	2	1	rs144931567		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:39158873G>A	uc003oon.2	-	5	1657	c.1293C>T	c.(1291-1293)GAC>GAT	p.D431D		NM_003740	NP_003731	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	431					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						AGGTCTCCTCGTCTGAGAGGC	0.632													A	39158873	G	A	39158873	2	1	75	1	0	0	0	0	0	0	0	1	8069	1136	40	1		1	KCNK5	6	39158873	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2506956	39158873	131956194	441	52652											
USP49	25862	broad.mit.edu	37	chr6	41774562	41774562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcaaagtgtttcagggCgtggtcctcaatatagcggc	11	11	3	0	rs144313199		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:41774562C>T	uc003ori.2	-	4	382	c.160G>A	c.(160-162)GCC>ACC	p.A54T		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	54	UBP-type.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGTTTCAGGGCGTGGTCCTCA	0.577													T	41774562	C	T	41774562	3	4	75	1	0	0	0	0	1	0	0	0	17077	768	27	1	1778	1	USP49	6	41774562	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2615689	41774562	129340505	442	52653											
CUL7	9820	broad.mit.edu	37	chr6	43017368	43017368	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggccaattctatgggcacGgccagttcagctaggatctc	12	11	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:43017368G>A	uc003otq.2	-	7	1905	c.1602C>T	c.(1600-1602)GCC>GCT	p.A534A	CUL7_uc010jyg.2_5'Flank|CUL7_uc011dvb.1_Silent_p.A618A|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	534					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTATGGGCACGGCCAGTTCAG	0.562													A	43017368	G	A	43017368	2	1	75	1	0	0	0	0	0	0	0	1	4060	1103	39	1		1	CUL7	6	43017368	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1242806	43017368	128097699	443	52654											
CUL9	23113	broad.mit.edu	37	chr6	43166564	43166566	+	In_Frame_Del	DEL	CAA	CAA	-													actctggatgctccggggccCaacaagactctgctgctgtc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:43166563_43166565CCAA>C	uc003ouk.3	+	11	3095_3097	c.3020_3022CCAA>C	c.(3019-3024)cccaac>cCac	p.N1008del	CUL9_uc003oul.3_In_Frame_Del_p.N1008del|CUL9_uc010jyk.3_In_Frame_Del_p.N160del	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1008					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCTCCGGGGCCCAACAAGACTCT	0.626													-	43166566	CAA	-	43166564	7	5	75	1	0	1	0	1	0	0	0	0	4061	581	21	0	3063	0	CUL9	6	43166564	In_Frame_Del	DEL	CAA	TCGA-BR-8363-01A-11D-2340-08	149196	43166564	127948503	444	52655											
C6orf108	10591	broad.mit.edu	37	chr6	43194124	43194124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcctgtcacccccagcaGcctcttcccctgtgttgagg	10	16	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:43194124G>A	uc003ouo.2	-	2	223	c.206C>T	c.(205-207)GCT>GTT	p.A69V	C6orf108_uc003oup.2_Missense_Mutation_p.A69V	NM_006443	NP_006434	O43598	RCL_HUMAN	putative c-Myc-responsive isoform 1	69					cell proliferation|deoxyribonucleoside monophosphate catabolic process|positive regulation of cell growth	cytoplasm|nucleus	deoxyribonucleoside 5'-monophosphate N-glycosidase activity|nucleoside deoxyribosyltransferase activity				0			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0123)|OV - Ovarian serous cystadenocarcinoma(102;0.0531)			ACCCCCAGCAGCCTCTTCCCC	0.602													A	43194124	G	A	43194124	3	1	75	1	0	0	0	0	1	0	0	0	2320	971	34	2	401	2	C6orf108	6	43194124	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	27560	43194124	127920943	445	52656											
DLK2	65989	broad.mit.edu	37	chr6	43418891	43418891	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accgttagcacaaggccgcaTcaggcagtcatccacattta	8	13	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:43418891T>A	uc003ova.2	-	6	747	c.538A>T	c.(538-540)ATG>TTG	p.M180L	DLK2_uc003ovb.2_Missense_Mutation_p.M180L	NM_023932	NP_076421	Q6UY11	DLK2_HUMAN	EGF-like-domain, multiple 9 precursor	180	Extracellular (Potential).|EGF-like 5; calcium-binding (Potential).					integral to membrane	calcium ion binding				0	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAAGGCCGCATCAGGCAGTCA	0.592													A	43418891	T	A	43418891	3	1	75	1	0	0	0	0	1	0	0	0	4565	1435	50	5	617	5	DLK2	6	43418891	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	224767	43418891	127696176	446	52657											
SLC35B2	347734	broad.mit.edu	37	chr6	44224191	44224191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaggccttgggctcattgCcaaacacacaagctttcacc	8	14	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:44224191C>T	uc003oxd.2	-	3	384	c.248G>A	c.(247-249)GGC>GAC	p.G83D	SLC35B2_uc011dvt.1_Intron|SLC35B2_uc011dvu.1_Intron	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	solute carrier family 35, member B2	83					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			ovary(1)|central_nervous_system(1)	2	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGGCTCATTGCCAAACACACA	0.577													T	44224191	C	T	44224191	3	4	75	1	0	0	0	0	1	0	0	0	14576	739	26	2	1058	2	SLC35B2	6	44224191	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	805300	44224191	126890876	447	52658											
MEP1A	4224	broad.mit.edu	37	chr6	46797161	46797161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggcagccctactggagtctCggattctttacccaaagagg	11	11	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:46797161C>T	uc010jzh.1	+	10	1039	c.997C>T	c.(997-999)CGG>TGG	p.R333W	MEP1A_uc011dwg.1_Missense_Mutation_p.R55W|MEP1A_uc011dwh.1_Missense_Mutation_p.R361W|MEP1A_uc011dwi.1_Missense_Mutation_p.R233W	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	333	Extracellular (Potential).|MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)			ACTGGAGTCTCGGATTCTTTA	0.527													T	46797161	C	T	46797161	3	4	75	1	0	0	0	0	1	0	0	0	9475	875	31	1	1035	1	MEP1A	6	46797161	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2572970	46797161	124317906	448	52659											
GPR110	266977	broad.mit.edu	37	chr6	46977322	46977322	+	Frame_Shift_Del	DEL	T	T	-													acgtgtgtgagaggtttggcTttttttaatctgcttccaaa							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:46977321_46977321CT>C	uc003oyt.3	-	10	2049	c.1850_1850AG>G	c.(1849-1851)agcfs	p.S617fs	GPR110_uc011dwl.2_Frame_Shift_Del_p.S305fs	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	617					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AGAGGTTTGGCTTTTTTTAAT	0.448													-	46977322	T	-	46977322	7	5	75	1	0	1	0	1	0	0	0	0	6627	1609	56	0	903	0	GPR110	6	46977322	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	180161	46977322	124137745	449	52660											
MUT	4594	broad.mit.edu	37	chr6	49425419	49425419	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatacctttgctgtatattcAaatatgtcagcaataatttt	4	6	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:49425419A>T	uc003ozg.3	-	3	993	c.738T>A	c.(736-738)TTT>TTA	p.F246L		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	246					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTGTATATTCAAATATGTCAG	0.284													T	49425419	A	T	49425419	3	4	75	1	0	0	0	0	1	0	0	0	9991	127	5	5	1558	5	MUT	6	49425419	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	2448097	49425419	121689648	450	52661											
DEFB114	245928	broad.mit.edu	37	chr6	49928136	49928136	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtaacgtttggtgcaacgatCagcattcaccaaggtacatg	10	9	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:49928136C>T	uc011dwp.1	-	2	79	c.79G>A	c.(79-81)GAT>AAT	p.D27N		NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN	beta-defensin 114 precursor	27					defense response to bacterium	extracellular region				ovary(1)	1	Lung NSC(77;0.042)					GTGCAACGATCAGCATTCACC	0.353													T	49928136	C	T	49928136	3	4	75	1	0	0	0	0	1	0	0	0	4403	826	29	4	133	4	DEFB114	6	49928136	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	502717	49928136	121186931	451	52662											
PKHD1	5314	broad.mit.edu	37	chr6	51612919	51612919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtaatgttctctatctcCacgctgttctctacatgtaa	6	10	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:51612919C>T	uc003pah.1	-	58	9771	c.9495G>A	c.(9493-9495)GTG>GTA	p.V3165V	PKHD1_uc010jzn.1_Silent_p.V1148V|PKHD1_uc003pai.2_Silent_p.V3165V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3165	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TCTCTATCTCCACGCTGTTCT	0.398													T	51612919	C	T	51612919	2	4	75	1	0	0	0	0	0	0	0	1	11971	581	21	4		4	PKHD1	6	51612919	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1684783	51612919	119502148	452	52663											
PAQR8	85315	broad.mit.edu	37	chr6	52268246	52268246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacaacgaggtggtcaacGtctggacccatttactggca	10	11	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:52268246G>A	uc003pao.3	+	2	409	c.235G>A	c.(235-237)GTC>ATC	p.V79I		NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member	79	Helical; Name=1; (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding				0	Lung NSC(77;0.0875)					GGTGGTCAACGTCTGGACCCA	0.617													A	52268246	G	A	52268246	3	1	75	1	0	0	0	0	1	0	0	0	11441	1145	40	1	237	1	PAQR8	6	52268246	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	655327	52268246	118846821	453	52664											
GCM1	8521	broad.mit.edu	37	chr6	52999110	52999110	+	Frame_Shift_Del	DEL	T	T	-													ccactcctggaaccagtcggTttttttcacgttctgataga							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:52999109_52999109GT>G	uc003pbp.3	-	2	298	c.89_89AC>C	c.(88-90)accfs	p.T30fs	GCM1_uc010jzr.2_Frame_Shift_Del_p.T30fs	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	30						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GAACCAGTCGGTTTTTTTCAC	0.483													-	52999110	T	-	52999110	7	5	75	1	0	1	0	1	0	0	0	0	6297	1725	60	0	1238	0	GCM1	6	52999110	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	730864	52999110	118115957	454	52665											
HCRTR2	3062	broad.mit.edu	37	chr6	55039411	55039411	+	Frame_Shift_Del	DEL	C	C	-													cggcaccaaattggaggactCccccccttgtcgcaactggt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:55039410_55039410TC>T	uc003pcl.3	+	0	340	c.25_25TC>T	c.(25-27)tccfs	p.S9fs	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTG	0.562													-	55039411	C	-	55039411	7	5	75	1	0	1	0	1	0	0	0	0	7002	855	30	0	28	0	HCRTR2	6	55039411	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	2040301	55039411	116075656	455	52666											
BMP5	653	broad.mit.edu	37	chr6	55638912	55638912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tattgcggttttgattttttCgtttgttggctgctctcacg	10	7	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:55638912C>T	uc003pcq.2	-	4	1674	c.962G>A	c.(961-963)CGA>CAA	p.R321Q	BMP5_uc011dxf.1_Missense_Mutation_p.R321Q	NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	321					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTGATTTTTTCGTTTGTTGGC	0.478													T	55638912	C	T	55638912	3	4	75	1	0	0	0	0	1	0	0	0	1463	884	31	1	418	1	BMP5	6	55638912	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	599501	55638912	115476155	456	52667											
KHDRBS2	202559	broad.mit.edu	37	chr6	62687976	62687976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaaagacacttacaggaaCcaggaattttttaatctctt	6	7	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:62687976C>T	uc003peg.2	-	4	725	c.478G>A	c.(478-480)GTT>ATT	p.V160I		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		CTTACAGGAACCAGGAATTTT	0.343													T	62687976	C	T	62687976	3	4	75	1	0	0	0	0	1	0	0	0	8147	507	18	4	595	4	KHDRBS2	6	62687976	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	7049064	62687976	108427091	457	52668											
EYS	346007	broad.mit.edu	37	chr6	66204602	66204602	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatatgcttgctcatcccaAttttctcttttattaatgca	3	10	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:66204602A>G	uc011dxu.1	-	4	1240	c.702T>C	c.(700-702)AAT>AAC	p.N234N	EYS_uc003peq.2_Silent_p.N234N|EYS_uc003per.1_Silent_p.N234N|EYS_uc010kaj.1_RNA	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	234	EGF-like 2.				response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						GCTCATCCCAATTTTCTCTTT	0.323													G	66204602	A	G	66204602	2	3	75	1	0	0	0	0	0	0	0	1	5332	98	4	3		3	EYS	6	66204602	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	3516626	66204602	104910465	458	52669											
COL9A1	1297	broad.mit.edu	37	chr6	71009815	71009815	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgtagctgatcccactActctctggatagctcttcta	7	12	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:71009815A>G	uc003pfg.3	-	4	389	c.230T>C	c.(229-231)GTA>GCA	p.V77A		NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	77	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						TGATCCCACTACTCTCTGGAT	0.358													G	71009815	A	G	71009815	3	3	75	1	0	0	0	0	1	0	0	0	3707	391	14	3	2751	3	COL9A1	6	71009815	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	4805213	71009815	100105252	459	52670											
OGFRL1	79627	broad.mit.edu	37	chr6	71998699	71998699	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaccgtggaggactgcgaCtccacctggcagaccgactc	11	16	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:71998699C>T	uc003pfx.1	+	1	223	c.60C>T	c.(58-60)GAC>GAT	p.D20D		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	20						membrane	receptor activity				0						AGGACTGCGACTCCACCTGGC	0.607													T	71998699	C	T	71998699	2	4	75	1	0	0	0	0	0	0	0	1	10844	564	20	4		4	OGFRL1	6	71998699	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	988884	71998699	99116368	460	52671											
IMPG1	3617	broad.mit.edu	37	chr6	76744488	76744488	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatccgatatgcttcccaTactgcttcctgacacactgt	6	13	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:76744488T>C	uc003pik.1	-	3	448	c.318A>G	c.(316-318)GTA>GTG	p.V106V		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	106					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ATGCTTCCCATACTGCTTCCT	0.483													C	76744488	T	C	76744488	2	2	75	1	0	0	0	0	0	0	0	1	7728	1393	49	3		3	IMPG1	6	76744488	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	4745789	76744488	94370579	461	52672											
TPBG	7162	broad.mit.edu	37	chr6	83074849	83074849	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtgtccgcccagcccccGctgccggaccagtgccccgc	12	22	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:83074849G>A	uc003pjn.3	+	3	1107	c.171G>A	c.(169-171)CCG>CCA	p.P57P	TPBG_uc010kbj.2_Silent_p.P57P|TPBG_uc003pjo.2_Silent_p.P57P	NM_006670	NP_006661	Q13641	TPBG_HUMAN	trophoblast glycoprotein precursor	57	Extracellular (Potential).|LRRNT.				cell adhesion	integral to plasma membrane				central_nervous_system(1)	1		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CCCAGCCCCCGCTGCCGGACC	0.552													A	83074849	G	A	83074849	2	1	75	1	0	0	0	0	0	0	0	1	16391	1074	38	1		1	TPBG	6	83074849	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	6330361	83074849	88040218	462	52673											
DOPEY1	23033	broad.mit.edu	37	chr6	83847420	83847420	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctcagtttctgtctgtgtCtgcagagggaggccatgagt	13	8	4	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:83847420C>T	uc003pjs.1	+	21	3919	c.3659C>T	c.(3658-3660)TCT>TTT	p.S1220F	DOPEY1_uc011dyy.1_Missense_Mutation_p.S1211F|DOPEY1_uc010kbl.1_Missense_Mutation_p.S1211F|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1220					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTGTCTGTGTCTGCAGAGGGA	0.428													T	83847420	C	T	83847420	3	4	75	1	0	0	0	0	1	0	0	0	4707	913	32	4	3733	4	DOPEY1	6	83847420	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	772571	83847420	87267647	463	52674											
SNAP91	9892	broad.mit.edu	37	chr6	84269853	84269853	+	Frame_Shift_Del	DEL	G	G	-													ggtacagcggcagctccaaaGgggggcctcatcatgggctg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:84269852_84269852AG>A	uc021zcf.1	-	26	2632	c.2602_2602CT>T	c.(2602-2604)tttfs	p.F868fs	SNAP91_uc011dzd.2_Frame_Shift_Del_p.F366fs|SNAP91_uc003pka.3_Frame_Shift_Del_p.F866fs|SNAP91_uc011dze.2_Frame_Shift_Del_p.F866fs|SNAP91_uc003pkc.3_Frame_Shift_Del_p.F838fs|SNAP91_uc003pkd.3_Frame_Shift_Del_p.F561fs|SNAP91_uc003pkb.3_Frame_Shift_Del_p.F777fs	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	868	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCAGCTCCAAAGGGGGGCCTC	0.517													-	84269853	G	-	84269853	7	5	75	1	0	1	0	1	0	0	0	0	14833	987	35	0	130	0	SNAP91	6	84269853	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	422433	84269853	86845214	464	52675											
MDN1	23195	broad.mit.edu	37	chr6	90405413	90405413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgaatctggagcaagcCgaggctcacccagaggctcc	12	13	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:90405413C>T	uc003pnn.1	-	61	9798	c.9682G>A	c.(9682-9684)GGC>AGC	p.G3228S		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3228					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGGAGCAAGCCGAGGCTCACC	0.592													T	90405413	C	T	90405413	3	4	75	1	0	0	0	0	1	0	0	0	9415	652	23	1	7276	1	MDN1	6	90405413	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	6135560	90405413	80709654	465	52676											
MDN1	23195	broad.mit.edu	37	chr6	90442374	90442374	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagcagcttcctcccccAttttgttcatgaagttaacc	5	13	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:90442374A>G	uc003pnn.1	-	34	4960	c.4844T>C	c.(4843-4845)ATG>ACG	p.M1615T		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1615					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCCTCCCCCATTTTGTTCAT	0.463													G	90442374	A	G	90442374	3	3	75	1	0	0	0	0	1	0	0	0	9415	217	8	3	12222	3	MDN1	6	90442374	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	36961	90442374	80672693	466	52677											
CASP8AP2	9994	broad.mit.edu	37	chr6	90575882	90575882	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaaaaaaattccaaacgtaGagtgtcagctgatgtgcgga	11	6	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:90575882G>A	uc003pnr.2	+	8	3069	c.2873G>A	c.(2872-2874)AGA>AAA	p.R958K	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.R958K|CASP8AP2_uc011dzz.1_Missense_Mutation_p.R958K	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	958					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCCAAACGTAGAGTGTCAGCT	0.358													A	90575882	G	A	90575882	3	1	75	1	0	0	0	0	1	0	0	0	2678	942	33	4	2899	4	CASP8AP2	6	90575882	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	133508	90575882	80539185	467	52678											
CASP8AP2	9994	broad.mit.edu	37	chr6	90575909	90575909	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgatgtgcggaagtcaaAgactatcccacgacgtggga	13	9	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:90575909A>C	uc003pnr.2	+	8	3096	c.2900A>C	c.(2899-2901)AAG>ACG	p.K967T	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.K967T|CASP8AP2_uc011dzz.1_Missense_Mutation_p.K967T	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	967					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CGGAAGTCAAAGACTATCCCA	0.363													C	90575909	A	C	90575909	3	2	75	1	0	0	0	0	1	0	0	0	2678	72	3	5	2926	5	CASP8AP2	6	90575909	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	27	90575909	80539158	468	52679											
CASP8AP2	9994	broad.mit.edu	37	chr6	90577011	90577011	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttaactgtactgaaaaaagTgagtgggagttaaagactcc	11	5	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:90577011T>C	uc003pnr.2	+	8	4198	c.4002T>C	c.(4000-4002)AGT>AGC	p.S1334S	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.S1334S|CASP8AP2_uc011dzz.1_Silent_p.S1334S	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1334					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CTGAAAAAAGTGAGTGGGAGT	0.398													C	90577011	T	C	90577011	2	2	75	1	0	0	0	0	0	0	0	1	2678	1693	59	3		3	CASP8AP2	6	90577011	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1102	90577011	80538056	469	52680											
GPR63	81491	broad.mit.edu	37	chr6	97247002	97247002	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacaaaaggaagttgcccaAgaaactgcaatcagaacctt	7	10	1	2	rs139651777	by1000genomes	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:97247002A>G	uc010kcl.2	-	3	1084	c.606T>C	c.(604-606)TCT>TCC	p.S202S	GPR63_uc003pou.2_Silent_p.S202S	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	202	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AAGTTGCCCAAGAAACTGCAA	0.463													G	97247002	A	G	97247002	2	3	75	1	0	0	0	0	0	0	0	1	6704	59	3	3		3	GPR63	6	97247002	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	6669991	97247002	73868065	470	52681											
POU3F2	5454	broad.mit.edu	37	chr6	99283474	99283474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccagcagccgccgccccCgccgcccccgcagggtccgc	11	24	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:99283474C>T	uc003ppe.2	+	1	895	c.725C>T	c.(724-726)CCG>CTG	p.P242L		NM_005604	NP_005595	P20265	PO3F2_HUMAN	POU domain, class 3, transcription factor 2	242					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		ccgccgcccccgccgcccccg	0.637													T	99283474	C	T	99283474	3	4	75	1	0	0	0	0	1	0	0	0	12275	652	23	1	727	1	POU3F2	6	99283474	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2036472	99283474	71831593	471	52682											
C6orf168	84553	broad.mit.edu	37	chr6	99797031	99797031	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgcagctgcggccagcaaaGctcccccggtcaagtaaagg	12	14	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:99797031G>T	uc003ppj.3	-	1	501	c.218C>A	c.(217-219)GCT>GAT	p.A73D		NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	hypothetical protein LOC84553	73										ovary(2)|central_nervous_system(1)	3		all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.073)		GGCCAGCAAAGCTCCCCCGGT	0.617													T	99797031	G	T	99797031	3	4	75	1	0	0	0	0	1	0	0	0	2343	971	34	5	1035	5	C6orf168	6	99797031	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	513557	99797031	71318036	472	52683											
BEND3	57673	broad.mit.edu	37	chr6	107391602	107391602	+	Frame_Shift_Del	DEL	C	C	-													cagcaagcggcaggccaggtCcccccctgacaggctctggt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:107391602delC	uc003prs.2	-	5	1443	c.793delG	c.(793-795)GACfs	p.D265fs		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	265	BEN 1.									ovary(3)	3						CAGGCCAGGTCCCCCCCTGAC	0.652													-	107391602	C	-	107391602	7	5	75	1	0	1	0	1	0	0	0	0	1399	855	30	0	1697	0	BEND3	6	107391602	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	7594571	107391602	63723465	473	52684											
GPR6	2830	broad.mit.edu	37	chr6	110301082	110301082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtggtctggcgccacgCgcaccagatcgcgctgcagc	14	16	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:110301082C>T	uc011eaw.1	+	2	947	c.767C>T	c.(766-768)GCG>GTG	p.A256V	GPR6_uc011eav.1_Missense_Mutation_p.A271V|GPR6_uc003ptu.2_Missense_Mutation_p.A256V	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	256	Cytoplasmic (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		TGGCGCCACGCGCACCAGATC	0.662													T	110301082	C	T	110301082	3	4	75	1	0	0	0	0	1	0	0	0	6701	768	27	1	769	1	GPR6	6	110301082	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2909480	110301082	60813985	474	52685											
KIAA1919	91749	broad.mit.edu	37	chr6	111588192	111588192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatctagaagtagtctgaCggagcccacagctgaagtct	11	10	3	3	rs141898273	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:111588192C>T	uc003puv.3	+	4	1849	c.1427C>T	c.(1426-1428)ACG>ATG	p.T476M		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	sodium-dependent glucose transporter 1	476	Cytoplasmic (Potential).				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(3)	3		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		AGTAGTCTGACGGAGCCCACA	0.403													T	111588192	C	T	111588192	3	4	75	1	0	0	0	0	1	0	0	0	8262	536	19	1	1441	1	KIAA1919	6	111588192	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1287110	111588192	59526875	475	52686											
REV3L	5980	broad.mit.edu	37	chr6	111672877	111672877	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacattcacaatgacacatAcctggcacccgagagatcat	6	12	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:111672877A>G	uc003puy.3	-	19	7623	c.7300_splice	c.e19+1	p.D2434_splice	REV3L_uc003pux.3_Splice_Site_p.D2356_splice|REV3L_uc003puz.3_Splice_Site_p.D2356_splice|REV3L_uc003pva.1_Splice_Site	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta						DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AATGACACATACCTGGCACCC	0.388								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					G	111672877	A	G	111672877	5	3	75	1	0	0	0	0	0	0	1	0	13240	405	14	3	2146	3	REV3L	6	111672877	Splice_Site	SNP	A	TCGA-BR-8363-01A-11D-2340-08	84685	111672877	59442190	476	52687											
MARCKS	4082	broad.mit.edu	37	chr6	114181730	114181731	+	Frame_Shift_Ins	INS	-	-	C													cccgagtgcagtccagaagcINSccccccagcggaggcggcag							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:114181729_114181730G>GC	uc003pvy.4	+	1	1368_1369	c.973_974G>GC	c.(973-975)gccfs	p.A325fs		NM_002356	NP_002347	P29966	MARCS_HUMAN	Homo sapiens myristoylated alanine-rich protein kinase C substrate (MARCKS), mRNA.	325					energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		CAGTCCAGAAGCCCCCCCAGCG	0.644													C	114181731	-	C	114181730	7	5	75	1	0	1	1	0	0	0	0	0	9309	739	26	0	980	0	MARCKS	6	114181730	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	2508853	114181730	56933337	477	52688											
COL10A1	1300	broad.mit.edu	37	chr6	116442885	116442885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggggtcctggtaggccagCtggtccaacatctccttttg	12	13	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:116442885C>T	uc003pwm.2	-	3	490	c.394G>A	c.(394-396)GCT>ACT	p.A132T	NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	type X collagen alpha 1 precursor	132	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)	1		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GGTAGGCCAGCTGGTCCAACA	0.597													T	116442885	C	T	116442885	3	4	75	1	0	0	0	0	1	0	0	0	3666	797	28	2	1652	2	COL10A1	6	116442885	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2261155	116442885	54672182	478	52689											
NT5DC1	221294	broad.mit.edu	37	chr6	116560165	116560165	+	Frame_Shift_Del	DEL	T	T	-													tcatctaaaaaatggggctcTttttttattgattcagtttt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:116560164_116560164CT>C	uc003pwj.3	+	10	1225	c.1130_1130CT>C	c.(1129-1131)tctfs	p.S377fs	NT5DC1_uc003pwl.3_Frame_Shift_Del_p.S327fs	NM_152729	NP_689942	Q5TFE4	NT5D1_HUMAN	Homo sapiens 5'-nucleotidase domain containing 1 (NT5DC1), mRNA.	377							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AAATGGGGCTCTTTTTTTATT	0.323													-	116560165	T	-	116560165	7	5	75	1	0	1	0	1	0	0	0	0	10690	1596	56	0	1173	0	NT5DC1	6	116560165	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	117280	116560165	54554902	479	52690											
ZUFSP	221302	broad.mit.edu	37	chr6	116968721	116968721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caatatccattcaaataagcGagggtgtgtacccaaaggac	9	9	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:116968721G>A	uc003pxf.1	-	8	1615	c.1369C>T	c.(1369-1371)CGC>TGC	p.R457C	ZUFSP_uc010kef.1_Missense_Mutation_p.R261C	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	457						intracellular	zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TCAAATAAGCGAGGGTGTGTA	0.353													A	116968721	G	A	116968721	3	1	75	1	0	0	0	0	1	0	0	0	18243	1058	37	1	379	1	ZUFSP	6	116968721	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	408556	116968721	54146346	480	52691											
NMBR	4829	broad.mit.edu	37	chr6	142409697	142409697	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactccgtggtggtcccgtcCgaggccggcaggaaatccct	13	14	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:142409697C>T	uc003qiu.2	-	1	240	c.99G>A	c.(97-99)TCG>TCA	p.S33S		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	33	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TGGTCCCGTCCGAGGCCGGCA	0.602													T	142409697	C	T	142409697	2	4	75	1	0	0	0	0	0	0	0	1	10487	639	23	1		1	NMBR	6	142409697	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	25440976	142409697	28705370	481	52692											
PLEKHG1	57480	broad.mit.edu	37	chr6	151116993	151116993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttttgtttccttgcagaGtgaagagttccacatttata	7	7	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:151116993G>A	uc003qny.1	+	6	896	c.584G>A	c.(583-585)AGT>AAT	p.S195N	PLEKHG1_uc011eel.1_Missense_Mutation_p.S235N|PLEKHG1_uc011eem.1_Missense_Mutation_p.S254N|PLEKHG1_uc003qnz.2_Missense_Mutation_p.S195N	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	195	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TCCTTGCAGAGTGAAGAGTTC	0.348													A	151116993	G	A	151116993	3	1	75	1	0	0	0	0	1	0	0	0	12068	1043	36	4	598	4	PLEKHG1	6	151116993	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	8707296	151116993	19998074	482	52693											
C6orf97	80129	broad.mit.edu	37	chr6	151939223	151939223	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgttacctgtgcctgcctcAaagatgtgactactgggcaa	10	10	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:151939223A>G	uc003qol.2	+	11	2178	c.2089A>G	c.(2089-2091)AAA>GAA	p.K697E		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	697											0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		TGCCTGCCTCAAAGATGTGAC	0.463													G	151939223	A	G	151939223	3	3	75	1	0	0	0	0	1	0	0	0	2374	131	5	3	2131	3	C6orf97	6	151939223	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	822230	151939223	19175844	483	52694											
SYNE1	23345	broad.mit.edu	37	chr6	152655285	152655285	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgacggcacaaatcgagccActgatcatttaaatgattta	7	9	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:152655285A>C	uc010kiw.2	-	77	13254	c.12652T>G	c.(12652-12654)TGG>GGG	p.W4218G	SYNE1_uc003qot.3_Missense_Mutation_p.W4147G|SYNE1_uc003qou.3_Missense_Mutation_p.W4218G|SYNE1_uc010kiz.2_5'UTR	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4218	Spectrin 11.|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)		AAATCGAGCCACTGATCATTT	0.398										HNSCC(10;0.0054)			C	152655285	A	C	152655285	3	2	75	1	0	0	0	0	1	0	0	0	15442	159	6	5	14094	5	SYNE1	6	152655285	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	716062	152655285	18459782	484	52695											
MTRF1L	54516	broad.mit.edu	37	chr6	153311082	153311082	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcataatcggcgtattccTtcaatgactgtacaagttca	6	9	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:153311082T>C	uc003qpi.3	-	7	1196	c.1091A>G	c.(1090-1092)AAG>AGG	p.K364R	MTRF1L_uc003qpl.3_3'UTR|MTRF1L_uc011efa.1_Missense_Mutation_p.K328R|MTRF1L_uc003qpj.3_Missense_Mutation_p.K222R|MTRF1L_uc003qpk.3_3'UTR	NM_019041	NP_061914	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor	364						mitochondrion	translation release factor activity, codon specific				0		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		GGCGTATTCCTTCAATGACTG	0.333													C	153311082	T	C	153311082	3	2	75	1	0	0	0	0	1	0	0	0	9960	1609	56	3	55	3	MTRF1L	6	153311082	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	655797	153311082	17803985	485	52696											
NOX3	50508	broad.mit.edu	37	chr6	155761274	155761274	+	Splice_Site	DEL	A	A	-													caattcagtggttgtgttctAaaaaaaacaacaacaacaaa							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:155761273_155761273TA>T	uc003qqm.3	-	6	590	c.487_splice	c.e6-1	p.N163_splice		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	163	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GGTTGTGTTCTaaaaaaaaca	0.358													-	155761274	A	-	155761274	8	5	75	1	0	1	0	1	0	0	1	0	10557	377	13	0		0	NOX3	6	155761274	Splice_Site	DEL	A	TCGA-BR-8363-01A-11D-2340-08	2450192	155761274	15353793	486	52697											
SYNJ2	8871	broad.mit.edu	37	chr6	158487477	158487477	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttttatgcctcctgacagtGactcccaggatcctgaaagc	8	12	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:158487477G>A	uc003qqx.1	+	12	1602	c.1527G>A	c.(1525-1527)GTG>GTA	p.V509V	SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Silent_p.V509V|SYNJ2_uc003qqy.1_Silent_p.V222V|SYNJ2_uc011efn.1_Silent_p.V437V|SYNJ2_uc010kjo.1_Silent_p.V458V|SYNJ2_uc003qqz.1_Silent_p.V126V	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	509	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCCTGACAGTGACTCCCAGGA	0.498													A	158487477	G	A	158487477	2	1	75	1	0	0	0	0	0	0	0	1	15450	1304	45	4		4	SYNJ2	6	158487477	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2726203	158487477	12627590	487	52698											
TULP4	56995	broad.mit.edu	37	chr6	158900957	158900958	+	Frame_Shift_Ins	INS	-	-	C													cgtcagcaagctgactctgcINSccccccgcctctgctcctac							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:158900956_158900957G>GC	uc003qrf.3	+	6	2557_2558	c.1200_1201G>GC	c.(1198-1203)ctgcccfs	p.L400fs	TULP4_uc011efo.2_Frame_Shift_Ins_p.L400fs|TULP4_uc003qrg.3_Frame_Shift_Ins_p.L400fs	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	400	SOCS box.				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.R403fs*91(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AGCTGACTCTGCCCCCCCGCCT	0.644													C	158900958	-	C	158900957	7	5	75	1	0	1	1	0	0	0	0	0	16773	739	26	0	1227	0	TULP4	6	158900957	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	413480	158900957	12214110	488	52699											
TULP4	56995	broad.mit.edu	37	chr6	158925097	158925097	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggcttcgtgtacgtgatgGccaacaagcagccgctgtgg	14	10	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:158925097G>T	uc003qrf.2	+	13	5759	c.4402G>T	c.(4402-4404)GCC>TCC	p.A1468S	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1468	TUB.				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTACGTGATGGCCAACAAGCA	0.672													T	158925097	G	T	158925097	3	4	75	1	0	0	0	0	1	0	0	0	16773	1203	42	5	4452	5	TULP4	6	158925097	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	24140	158925097	12189970	489	52700											
TMEM181	57583	broad.mit.edu	37	chr6	159028323	159028323	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttccatgagagactggggCatcgagcagaagtggatgtc	14	7	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:159028323C>T	uc003qrm.3	+	8	1043	c.1032C>T	c.(1030-1032)GGC>GGT	p.G344G	TMEM181_uc010kjr.1_Silent_p.G175G	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	G protein-coupled receptor 178	344					pathogenesis	integral to membrane	toxin binding			ovary(2)|central_nervous_system(1)	3		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		GAGACTGGGGCATCGAGCAGA	0.468													T	159028323	C	T	159028323	2	4	75	1	0	0	0	0	0	0	0	1	16097	697	25	2		2	TMEM181	6	159028323	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	103226	159028323	12086744	490	52701											
IGF2R	3482	broad.mit.edu	37	chr6	160485488	160485489	+	Frame_Shift_Ins	INS	-	-	G													tgttaaaaatgaacttcacgINSgggggggacacttgccataa							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:160485487_160485488C>CG	uc003qta.3	+	27	4089_4090	c.3941_3942C>CG	c.(3940-3942)acgfs	p.T1314fs		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1314					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ATGAACTTCACGGGGGGGGACA	0.505													G	160485489	-	G	160485488	7	5	75	1	0	1	1	0	0	0	0	0	7576	1103	39	0	4052	0	IGF2R	6	160485488	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	1457165	160485488	10629579	491	52702											
SLC22A3	6581	broad.mit.edu	37	chr6	160831880	160831880	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcaaattactcagaggTaatttctttcagtatgagta	6	7	5	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:160831880T>C	uc003qti.2	+	5	1002	c.975_splice	c.e5+2	p.E325_splice	SLC22A3_uc011efx.1_Splice_Site	NM_021977	NP_068812	O75751	S22A3_HUMAN	solute carrier family 22 member 3							integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TACTCAGAGGTAATTTCTTTC	0.343													C	160831880	T	C	160831880	5	2	75	1	0	0	0	0	0	0	1	0	14455	1652	57	3	995	3	SLC22A3	6	160831880	Splice_Site	SNP	T	TCGA-BR-8363-01A-11D-2340-08	346392	160831880	10283187	492	52703											
MAP3K4	4216	broad.mit.edu	37	chr6	161470750	161470750	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcccatagataacagcttCgacatccagtcgcgggactg	10	13	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:161470750C>T	uc003qtn.2	+	3	1588	c.1446C>T	c.(1444-1446)TTC>TTT	p.F482F	MAP3K4_uc010kkc.1_Silent_p.F482F|MAP3K4_uc003qto.2_Silent_p.F482F|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	482					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ATAACAGCTTCGACATCCAGT	0.488													T	161470750	C	T	161470750	2	4	75	1	0	0	0	0	0	0	0	1	9252	883	31	1		1	MAP3K4	6	161470750	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	638870	161470750	9644317	493	52704											
PDE10A	10846	broad.mit.edu	37	chr6	165848819	165848819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcccagcagggatgaggCggggttttccttcctttatc	14	10	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:165848819C>T	uc003qun.2	-	7	654	c.413G>A	c.(412-414)CGC>CAC	p.R138H	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.R68H|PDE10A_uc003quo.2_Missense_Mutation_p.R148H	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	138	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AGGGATGAGGCGGGGTTTTCC	0.488													T	165848819	C	T	165848819	3	4	75	1	0	0	0	0	1	0	0	0	11630	768	27	1	1994	1	PDE10A	6	165848819	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	4378069	165848819	5266248	494	52705											
HEATR2	54919	broad.mit.edu	37	chr7	801405	801405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggacctctacctggagCgcctgctgctgtgtgtgcag	13	13	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:801405C>T	uc010krz.1	+	7	1506	c.1486C>T	c.(1486-1488)CGC>TGC	p.R496C	HEATR2_uc003siz.2_Missense_Mutation_p.R364C|HEATR2_uc003sja.2_5'Flank	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	496							protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTACCTGGAGCGCCTGCTGCT	0.448													T	801405	C	T	801405	3	4	75	1	0	0	0	0	1	0	0	0	7028	768	27	1	1512	1	HEATR2	7	801405	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08		801405	158337258	495	52706											
TMEM184A	202915	broad.mit.edu	37	chr7	1589528	1589530	+	In_Frame_Del	DEL	GAT	GAT	-													tatttgccaaatgcctggagGatgatggtggtgacggccat							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:1589527_1589529GGAT>G	uc003skv.4	-	5	922_924	c.605_607ATCC>C	c.(604-609)atcctc>aCtc	p.202_203IL>T	TMEM184A_uc003skt.4_5'UTR|TMEM184A_uc021zyr.1_In_Frame_Del_p.7_8IL>T	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	202						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		AATGCCTGGAGGATGATGGTGGT	0.69													-	1589530	GAT	-	1589528	7	5	75	1	0	1	0	1	0	0	0	0	16101	1164	41	0	651	0	TMEM184A	7	1589528	In_Frame_Del	DEL	GAT	TCGA-BR-8363-01A-11D-2340-08	788123	1589528	157549135	496	52707											
RADIL	55698	broad.mit.edu	37	chr7	4855941	4855941	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgaggccacctcggggtgCacctgcagctgccgcaggag	16	14	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:4855941C>T	uc003snj.1	-	8	2057	c.1884G>A	c.(1882-1884)GTG>GTA	p.V628V	RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Silent_p.V133V|RADIL_uc011jwc.1_Silent_p.V388V|RADIL_uc011jwd.1_RNA	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	628	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCTCGGGGTGCACCTGCAGCT	0.677													T	4855941	C	T	4855941	2	4	75	1	0	0	0	0	0	0	0	1	12997	697	25	2		2	RADIL	7	4855941	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3266413	4855941	154282722	497	52708											
RADIL	55698	broad.mit.edu	37	chr7	4917581	4917581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccccaaacaccttcaggaCaccaggggccgacagctggg	12	15	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:4917581C>T	uc003snj.1	-	2	363	c.190G>A	c.(190-192)GTC>ATC	p.V64I	RADIL_uc003sng.1_RNA|RADIL_uc011jwd.1_RNA	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	64	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		ACCTTCAGGACACCAGGGGCC	0.657													T	4917581	C	T	4917581	3	4	75	1	0	0	0	0	1	0	0	0	12997	478	17	4	3093	4	RADIL	7	4917581	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	61640	4917581	154221082	498	52709											
RSPH10B2	728194	broad.mit.edu	37	chr7	5966162	5966162	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttggcctcttcctctctcAagatgaagatgttcagccta	7	12	5	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:5966162A>G	uc003sph.1	-	21	2721	c.2450T>C	c.(2449-2451)TTG>TCG	p.L817S	RSPH10B2_uc003spg.1_3'UTR|RSPH10B2_uc010ktd.1_Missense_Mutation_p.L817S	NM_173565	NP_775836	B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B	817										ovary(1)|pancreas(1)|skin(1)	3						TTCCTCTCTCAAGATGAAGAT	0.463													G	5966162	A	G	5966162	3	3	75	1	0	0	0	0	1	0	0	0	13704	131	5	3	166	3	RSPH10B2	7	5966162	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1048581	5966162	153172501	499	52710											
MEOX2	4223	broad.mit.edu	37	chr7	15725539	15725539	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgcttttcctcttgccgccGcttcgcttctccgcctccgc	7	20	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:15725539G>T	uc003stc.2	-	1	770	c.489C>A	c.(487-489)AGC>AGA	p.S163R	MEOX2_uc011jxw.1_Missense_Mutation_p.S163R	NM_005924	NP_005915	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	163					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TCTTGCCGCCGCTTCGCTTCT	0.687													T	15725539	G	T	15725539	3	4	75	1	0	0	0	0	1	0	0	0	9474	1078	38	5	437	5	MEOX2	7	15725539	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	9759377	15725539	143413124	500	52711											
TSPAN13	27075	broad.mit.edu	37	chr7	16817465	16817465	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaacaatacggcaagtgctCgaaatgacatccagagaaat	10	8	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:16817465C>T	uc003stq.2	+	4	597	c.355C>T	c.(355-357)CGA>TGA	p.R119*		NM_014399	NP_055214	O95857	TSN13_HUMAN	tetraspan NET-6	119	Extracellular (Potential).					integral to plasma membrane|membrane fraction				ovary(1)	1	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		GGCAAGTGCTCGAAATGACAT	0.388													T	16817465	C	T	16817465	4	4	75	1	0	0	0	0	0	1	0	0	16634	876	31	1	369	1	TSPAN13	7	16817465	Nonsense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1091926	16817465	142321198	501	52712											
MACC1	346389	broad.mit.edu	37	chr7	20199428	20199428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggagcgggccagctggcGttgacttaaccaagccattt	13	11	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:20199428G>A	uc003sus.3	-	5	865	c.556C>T	c.(556-558)CGC>TGC	p.R186C	MACC1_uc010kug.2_Missense_Mutation_p.R186C	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	186					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3						GCCAGCTGGCGTTGACTTAAC	0.473													A	20199428	G	A	20199428	3	1	75	1	0	0	0	0	1	0	0	0	9143	1145	40	1	2014	1	MACC1	7	20199428	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	3381963	20199428	138939235	502	52713											
ABCB5	340273	broad.mit.edu	37	chr7	20782555	20782555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctttcttctatccatgtcGcccagatgttttcatcctcc	4	15	4	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:20782555G>A	uc003suw.3	+	16	2291	c.1745G>A	c.(1744-1746)CGC>CAC	p.R582H	ABCB5_uc010kuh.2_Missense_Mutation_p.R1027H	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	582	Cytoplasmic (Potential).|ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						TATCCATGTCGCCCAGATGTT	0.468													A	20782555	G	A	20782555	3	1	75	1	0	0	0	0	1	0	0	0	44	1087	38	1	3215	1	ABCB5	7	20782555	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	583127	20782555	138356108	503	52714											
FAM126A	84668	broad.mit.edu	37	chr7	23017933	23017933	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaatgcatccactgctAtgcacatttctgctggctga	8	12	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:23017933A>G	uc003svm.3	-	4	543	c.288T>C	c.(286-288)CAT>CAC	p.H96H	FAM126A_uc003svn.3_5'UTR|FAM126A_uc011jyr.1_Silent_p.H62H	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	96						cytoplasm|membrane	signal transducer activity			central_nervous_system(1)	1						ATCCACTGCTATGCACATTTC	0.388													G	23017933	A	G	23017933	2	3	75	1	0	0	0	0	0	0	0	1	5429	446	16	3		3	FAM126A	7	23017933	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	2235378	23017933	136120730	504	52715											
NUPL2	11097	broad.mit.edu	37	chr7	23224773	23224774	+	Frame_Shift_Ins	INS	-	-	G													ttctccaaatccacaccatgINSggggggcagcagagatcaag							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:23224772_23224773T>TG	uc003svu.3	+	1	464_465	c.205_206T>TG	c.(205-207)tggfs	p.W69fs	NUPL2_uc003svv.3_Non-coding_Transcript|NUPL2_uc011jyw.2_Non-coding_Transcript	NM_007342	NP_031368	O15504	NUPL2_HUMAN	Homo sapiens nucleoporin like 2 (NUPL2), mRNA.	69					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCACACCATGGGGGGGCAGC	0.406													G	23224774	-	G	23224773	7	5	75	1	0	1	1	0	0	0	0	0	10775	1357	47	0	212	0	NUPL2	7	23224773	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	206840	23224773	135913890	505	52716											
HOXA2	3199	broad.mit.edu	37	chr7	27141760	27141760	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcaagcagggccggtggcTgcggcggtggcggcggcggc	23	11	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:27141760T>G	uc003syh.2	-	1	635	c.360A>C	c.(358-360)GCA>GCC	p.A120A		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	120						nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						GGCcggtggctgcggcggtgg	0.493													G	27141760	T	G	27141760	2	3	75	1	0	0	0	0	0	0	0	1	7292	1567	55	5		5	HOXA2	7	27141760	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	3916987	27141760	131996903	506	52717											
HOXA3	3200	broad.mit.edu	37	chr7	27147962	27147963	+	Frame_Shift_Ins	INS	-	-	G													ggcagcccgtaggtaccctgINSggggggcttggagaagggcg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:27147961_27147962T>TG	uc011jzl.2	-	2	1104_1105	c.904_905A>CA	c.(904-906)cagfs	p.Q302fs	HOXA3_uc003syk.3_Frame_Shift_Ins_p.Q302fs	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	302					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GTAGGTACCCTGGGGGGGCTTG	0.718													G	27147963	-	G	27147962	7	5	75	1	0	1	1	0	0	0	0	0	7293	1357	47	0	431	0	HOXA3	7	27147962	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	6202	27147962	131990701	507	52718											
HOXA6	3203	broad.mit.edu	37	chr7	27187001	27187001	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcggcgccttcgtcatggAgtgctttgccctgcccgctg	14	14	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:27187001A>G	uc003syo.1	-	1	368	c.368T>C	c.(367-369)CTC>CCC	p.L123P	uc003syp.1_Silent_p.G28G|HOXA6_uc003syq.1_RNA	NM_024014	NP_076919	P31267	HXA6_HUMAN	homeobox A6	123						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						TTCGTCATGGAGTGCTTTGCC	0.622													G	27187001	A	G	27187001	3	3	75	1	0	0	0	0	1	0	0	0	7296	304	11	3	341	3	HOXA6	7	27187001	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	39039	27187001	131951662	508	52719											
JAZF1	221895	broad.mit.edu	37	chr7	27880399	27880399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacatggagctgaggatgGcttcggagctgatggcactc	15	9	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:27880399G>A	uc003szn.2	-	4	714	c.473C>T	c.(472-474)GCC>GTC	p.A158V	JAZF1_uc003szm.2_Missense_Mutation_p.A94V	NM_175061	NP_778231	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	158					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(131)	soft_tissue(98)|endometrium(33)	131						GCTGAGGATGGCTTCGGAGCT	0.537			T	SUZ12	endometrial stromal tumours								A	27880399	G	A	27880399	3	1	75	1	0	0	0	0	1	0	0	0	7946	1203	42	2	266	2	JAZF1	7	27880399	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	693398	27880399	131258264	509	52720											
GARS	2617	broad.mit.edu	37	chr7	30651771	30651771	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaacgacttttggagtTcaaccaaggaaagttgcctt	8	8	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:30651771T>G	uc003tbm.2	+	8	1298	c.941T>G	c.(940-942)TTC>TGC	p.F314C		NM_002047	NP_002038	P41250	SYG_HUMAN	glycyl-tRNA synthetase	314					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			ovary(1)	1					Glycine(DB00145)	CTTTTGGAGTTCAACCAAGGA	0.398													G	30651771	T	G	30651771	3	3	75	1	0	0	0	0	1	0	0	0	6242	1783	62	5	971	5	GARS	7	30651771	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	2771372	30651771	128486892	510	52721											
PDE1C	5137	broad.mit.edu	37	chr7	31876897	31876897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgcagcataagggataagGcttttggcttttcaatgctg	11	6	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:31876897G>A	uc003tcm.1	-	11	1569	c.1100C>T	c.(1099-1101)GCC>GTC	p.A367V	PDE1C_uc003tcn.1_Missense_Mutation_p.A367V|PDE1C_uc003tco.1_Missense_Mutation_p.A427V|PDE1C_uc003tcr.2_Missense_Mutation_p.A367V|PDE1C_uc003tcs.2_Missense_Mutation_p.A367V	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	367	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			AAGGGATAAGGCTTTTGGCTT	0.408													A	31876897	G	A	31876897	3	1	75	1	0	0	0	0	1	0	0	0	11635	1203	42	2	832	2	PDE1C	7	31876897	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1225126	31876897	127261766	511	52722											
PDE1C	5137	broad.mit.edu	37	chr7	31890287	31890287	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaattgttggtggttccGgtatgctcgtagtcatggat	14	5	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:31890287G>A	uc003tcm.1	-	8	1288	c.819C>T	c.(817-819)ACC>ACT	p.T273T	PDE1C_uc003tcn.1_Silent_p.T273T|PDE1C_uc003tco.1_Silent_p.T333T|PDE1C_uc003tcr.2_Silent_p.T273T|PDE1C_uc003tcs.2_Silent_p.T273T	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	273	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			TGGTGGTTCCGGTATGCTCGT	0.448													A	31890287	G	A	31890287	2	1	75	1	0	0	0	0	0	0	0	1	11635	1103	39	1		1	PDE1C	7	31890287	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	13390	31890287	127248376	512	52723											
RP9	6100	broad.mit.edu	37	chr7	33136917	33136917	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaacttttggttgcctttgAtaaagaaagggcattctttg	9	6	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:33136917A>G	uc003tdm.2	-	4	389	c.371T>C	c.(370-372)ATC>ACC	p.I124T		NM_203288	NP_976033	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9	124	PIM1-binding (By similarity).				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding				0			GBM - Glioblastoma multiforme(11;0.0403)			GTTGCCTTTGATAAAGAAAGG	0.378													G	33136917	A	G	33136917	3	3	75	1	0	0	0	0	1	0	0	0	13535	333	12	3	306	3	RP9	7	33136917	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1246630	33136917	126001746	513	52724											
GPR141	353345	broad.mit.edu	37	chr7	37780671	37780671	+	Frame_Shift_Del	DEL	A	A	-													aggagttctgggctcagctgAaaaacctattttttataggg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:37780670_37780670GA>G	uc003tfm.1	+	0	675	c.675_675GA>G	c.(673-675)ctgfs	p.L225fs	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	225						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q224*(1)|p.Q224K(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGCTCAGCTGAAAAACCTAT	0.428													-	37780671	A	-	37780671	7	5	75	1	0	1	0	1	0	0	0	0	6649	247	9	0	678	0	GPR141	7	37780671	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	4643754	37780671	121357992	514	52725											
STARD3NL	83930	broad.mit.edu	37	chr7	38247159	38247159	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccgggagccagagctcCcatgcttctctgcgcaatat	9	15	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:38247159C>T	uc003tfr.2	+	2	202	c.54C>T	c.(52-54)TCC>TCT	p.S18S	STARD3NL_uc003tfs.2_Silent_p.S18S|STARD3NL_uc003tft.2_Silent_p.S18S	NM_032016	NP_114405	O95772	MENTO_HUMAN	MLN64 N-terminal homolog	18	Cytoplasmic (Potential).					integral to membrane|late endosome membrane				ovary(1)	1						GCCAGAGCTCCCATGCTTCTC	0.512													T	38247159	C	T	38247159	2	4	75	1	0	0	0	0	0	0	0	1	15257	610	22	4		4	STARD3NL	7	38247159	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	466488	38247159	120891504	515	52726											
ZMIZ2	83637	broad.mit.edu	37	chr7	44806229	44806229	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggggccccccagcatgtcTggagccggggaggccccaga	16	14	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:44806229T>C	uc003tlr.2	+	18	2745	c.2622T>C	c.(2620-2622)TCT>TCC	p.S874S	ZMIZ2_uc003tlq.2_Silent_p.S816S|ZMIZ2_uc003tls.2_Silent_p.S848S|ZMIZ2_uc003tlt.2_Silent_p.S497S|ZMIZ2_uc010kyj.2_Silent_p.S396S|ZMIZ2_uc003tlu.2_Silent_p.S155S|ZMIZ2_uc010kyk.1_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	874	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						CCAGCATGTCTGGAGCCGGGG	0.672													C	44806229	T	C	44806229	2	2	75	1	0	0	0	0	0	0	0	1	17694	1567	55	3		3	ZMIZ2	7	44806229	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	6559070	44806229	114332434	516	52727											
IGFBP1	3484	broad.mit.edu	37	chr7	45928308	45928308	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcctgctgactgtccaGgtcggcgtgacagccggcgc	14	15	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:45928308G>T	uc003tnp.2	+	1	350	c.57G>T	c.(55-57)CAG>CAT	p.Q19H	IGFBP1_uc003tno.3_Missense_Mutation_p.Q19H|IGFBP1_uc010kyn.2_Missense_Mutation_p.Q19H	NM_000596	NP_000587	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	19						extracellular space	insulin-like growth factor binding			lung(1)	1						TGACTGTCCAGGTCGGCGTGA	0.706													T	45928308	G	T	45928308	3	4	75	1	0	0	0	0	1	0	0	0	7578	991	35	5	59	5	IGFBP1	7	45928308	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1122079	45928308	113210355	517	52728											
ABCA13	154664	broad.mit.edu	37	chr7	48318404	48318404	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtttcggggaagatgtccaCagtttttaaaactcatttta	8	6	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:48318404C>A	uc003toq.2	+	18	7638	c.7613C>A	c.(7612-7614)ACA>AAA	p.T2538K	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2538					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AAGATGTCCACAGTTTTTAAA	0.388													A	48318404	C	A	48318404	3	1	75	1	0	0	0	0	1	0	0	0	31	478	17	5	7512	5	ABCA13	7	48318404	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2390096	48318404	110820259	518	52729											
DDC	1644	broad.mit.edu	37	chr7	50531075	50531075	+	Frame_Shift_Del	DEL	T	T	-													gtgacatggaaccaagtggaTttttttggcactgtttattc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:50531074_50531074AT>A	uc003tpg.4	-	13	1499	c.1298_1298AT>T	c.(1297-1299)atcfs	p.I433fs	DDC_uc022ade.1_Frame_Shift_Del_p.I355fs|DDC_uc003tpf.4_Frame_Shift_Del_p.I433fs|DDC_uc022adb.1_Frame_Shift_Del_p.I395fs|DDC_uc022adc.1_Frame_Shift_Del_p.I385fs|DDC_uc022add.1_Frame_Shift_Del_p.I340fs	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	433					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	AACCAAGTGGATTTTTTTGGC	0.507													-	50531075	T	-	50531075	7	5	75	1	0	1	0	1	0	0	0	0	4325	1493	52	0	149	0	DDC	7	50531075	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	2212671	50531075	108607588	519	52730											
COBL	23242	broad.mit.edu	37	chr7	51096673	51096673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggaggaatgattttatacGttgtgaggccgtgcttaagt	13	4	0	2	rs148352652	by1000genomes	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:51096673G>A	uc003tpr.3	-	10	2305	c.2120C>T	c.(2119-2121)ACG>ATG	p.T707M	COBL_uc003tps.2_Missense_Mutation_p.T764M|COBL_uc011kcl.1_Missense_Mutation_p.T707M|COBL_uc003tpp.3_Missense_Mutation_p.T493M|COBL_uc003tpq.3_Missense_Mutation_p.T648M|COBL_uc003tpo.3_Missense_Mutation_p.T249M	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	707										skin(3)|ovary(2)	5	Glioma(55;0.08)					GATTTTATACGTTGTGAGGCC	0.498													A	51096673	G	A	51096673	3	1	75	1	0	0	0	0	1	0	0	0	3653	1145	40	1	1681	1	COBL	7	51096673	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	565598	51096673	108041990	520	52731											
POM121L12	285877	broad.mit.edu	37	chr7	53103605	53103605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacccacctcatcgaggtgCggcccacccaggaccccgcc	10	21	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:53103605C>T	uc003tpz.2	+	1	257	c.241C>T	c.(241-243)CGG>TGG	p.R81W		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	81											0						CATCGAGGTGCGGCCCACCCA	0.711													T	53103605	C	T	53103605	3	4	75	1	0	0	0	0	1	0	0	0	12241	759	27	1	243	1	POM121L12	7	53103605	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2006932	53103605	106035058	521	52732											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73961459	73961459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattggcatctcggagcccGtcaaggtgccgtactccaag	11	14	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:73961459G>A	uc003uaq.2	+	17	2152	c.1759G>A	c.(1759-1761)GTC>ATC	p.V587I	GTF2IRD1_uc010lbq.2_Missense_Mutation_p.V619I|GTF2IRD1_uc003uap.2_Missense_Mutation_p.V587I|GTF2IRD1_uc003uar.1_Missense_Mutation_p.V587I	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	587	GTF2I-like 3.					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						CTCGGAGCCCGTCAAGGTGCC	0.632													A	73961459	G	A	73961459	3	1	75	1	0	0	0	0	1	0	0	0	6868	1145	40	1	1821	1	GTF2IRD1	7	73961459	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	20857854	73961459	85177204	522	52733											
CCDC146	57639	broad.mit.edu	37	chr7	76922503	76922503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgcacgccttggccatcGctgaaaagtctcaggtaggc	11	11	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:76922503G>A	uc003uga.2	+	18	2777	c.2650G>A	c.(2650-2652)GCT>ACT	p.A884T	CCDC146_uc010ldp.2_Missense_Mutation_p.A598T|CCDC146_uc003ugc.2_Missense_Mutation_p.A221T	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	884										ovary(1)|central_nervous_system(1)	2		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				CTTGGCCATCGCTGAAAAGTC	0.453													A	76922503	G	A	76922503	3	1	75	1	0	0	0	0	1	0	0	0	2780	1087	38	1	2716	1	CCDC146	7	76922503	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2961044	76922503	82216160	523	52734											
MAGI2	9863	broad.mit.edu	37	chr7	77824201	77824201	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcacttacgcctactttcAtaaatggccctagatttctc	4	12	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:77824201A>C	uc003ugx.2	-	12	2513	c.2259T>G	c.(2257-2259)TAT>TAG	p.Y753*	MAGI2_uc003ugy.2_Nonsense_Mutation_p.Y753*|MAGI2_uc010ldx.1_Nonsense_Mutation_p.Y362*|MAGI2_uc010ldy.1_Nonsense_Mutation_p.Y362*	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	753						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GCCTACTTTCATAAATGGCCC	0.478													C	77824201	A	C	77824201	4	2	75	1	0	0	0	0	0	1	0	0	9191	224	8	5	2152	5	MAGI2	7	77824201	Nonsense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	901698	77824201	81314462	524	52735											
SEMA3A	10371	broad.mit.edu	37	chr7	83689835	83689835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatggactcttcccacggcCgttttcaaaatgtgagttct	8	10	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:83689835C>T	uc003uhz.2	-	5	808	c.493G>A	c.(493-495)GGC>AGC	p.G165S		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	165	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						TTCCCACGGCCGTTTTCAAAA	0.343													T	83689835	C	T	83689835	3	4	75	1	0	0	0	0	1	0	0	0	14024	652	23	1	1874	1	SEMA3A	7	83689835	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	5865634	83689835	75448828	525	52736											
SAMD9L	219285	broad.mit.edu	37	chr7	92762979	92762979	+	Frame_Shift_Del	DEL	T	T	-													ctgcaaaatcagttgtcttgTtttttaacacagcacatctg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:92762978_92762978GT>G	uc003umh.1	-	4	3523	c.2307_2307AC>C	c.(2305-2307)aacfs	p.N769fs	SAMD9L_uc003umj.1_Frame_Shift_Del_p.N769fs|SAMD9L_uc003umi.1_Frame_Shift_Del_p.N769fs|SAMD9L_uc010lfb.1_Frame_Shift_Del_p.N769fs|SAMD9L_uc003umk.1_Frame_Shift_Del_p.N769fs|SAMD9L_uc010lfc.1_Frame_Shift_Del_p.N769fs|SAMD9L_uc010lfd.1_Frame_Shift_Del_p.N769fs|SAMD9L_uc022ahh.1_Frame_Shift_Del_p.N769fs	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	769										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGTTGTCTTGTTTTTTAACA	0.423													-	92762979	T	-	92762979	7	5	75	1	0	1	0	1	0	0	0	0	13827	1725	60	0	2452	0	SAMD9L	7	92762979	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	9073144	92762979	66375684	526	52737											
COL1A2	1278	broad.mit.edu	37	chr7	94041396	94041396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagggtcttcctggttcccCtggaaatatcggccccgctg	11	13	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:94041396C>T	uc003ung.1	+	24	1838	c.1367C>T	c.(1366-1368)CCT>CTT	p.P456L	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	456					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCTGGTTCCCCTGGAAATATC	0.378										HNSCC(75;0.22)			T	94041396	C	T	94041396	3	4	75	1	0	0	0	0	1	0	0	0	3678	681	24	4	1461	4	COL1A2	7	94041396	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1278417	94041396	65097267	527	52738											
TRRAP	8295	broad.mit.edu	37	chr7	98497363	98497363	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccttgatcatgaacaccaTtgccattcaggtgtctgcac	8	13	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:98497363T>C	uc003upp.2	+	10	982	c.773T>C	c.(772-774)ATT>ACT	p.I258T	TRRAP_uc011kis.1_Missense_Mutation_p.I258T|TRRAP_uc003upr.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	258					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATGAACACCATTGCCATTCAG	0.448													C	98497363	T	C	98497363	3	2	75	1	0	0	0	0	1	0	0	0	16598	1493	52	3	807	3	TRRAP	7	98497363	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	4455967	98497363	60641300	528	52739											
TRRAP	8295	broad.mit.edu	37	chr7	98547362	98547362	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagccagttgcgacgtgtgtGggtgagtgagaacttccaag	16	7	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:98547362G>T	uc003upp.2	+	36	5221	c.5012G>T	c.(5011-5013)TGG>TTG	p.W1671L	TRRAP_uc011kis.1_Missense_Mutation_p.W1653L|TRRAP_uc003upr.2_Missense_Mutation_p.W1370L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1671					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CGACGTGTGTGGGTGAGTGAG	0.522													T	98547362	G	T	98547362	3	4	75	1	0	0	0	0	1	0	0	0	16598	1357	47	5	5092	5	TRRAP	7	98547362	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	49999	98547362	60591301	529	52740											
ZKSCAN1	7586	broad.mit.edu	37	chr7	99631749	99631750	+	Frame_Shift_Del	DEL	AG	AG	-													tgcatcacagaatccatgccAgagagagagcctctgagtac							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:99631748_99631749CAG>C	uc003usk.1	+	5	1839_1840	c.1620_1621CAG>C	c.(1618-1623)gccagafs	p.A540fs	ZKSCAN1_uc003usl.1_Frame_Shift_Del_p.A504fs|ZKSCAN1_uc003usm.1_Frame_Shift_Del_p.A327fs	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 1 (ZKSCAN1), mRNA.	540					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R543fs*3(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GAATCCATGCCAGAGAGAGAGC	0.515													-	99631750	AG	-	99631749	7	5	75	1	0	1	0	1	0	0	0	0	17683	180	7	0	1639	0	ZKSCAN1	7	99631749	Frame_Shift_Del	DEL	AG	TCGA-BR-8363-01A-11D-2340-08	1084387	99631749	59506914	530	52741											
C7orf43	55262	broad.mit.edu	37	chr7	99754169	99754169	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggtccaagcggacactgggCaggctaggagtggtgagaga	18	8	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:99754169C>A	uc003utr.2	-	8	1260	c.1080G>T	c.(1078-1080)CTG>CTT	p.L360L	C7orf43_uc010lgo.2_5'UTR|C7orf43_uc010lgp.2_5'UTR|C7orf43_uc011kjj.1_Silent_p.L128L|C7orf43_uc003uts.2_Silent_p.L91L	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	hypothetical protein LOC55262	360											0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGACACTGGGCAGGCTAGGAG	0.577													A	99754169	C	A	99754169	2	1	75	1	0	0	0	0	0	0	0	1	2393	697	25	5		5	C7orf43	7	99754169	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	122420	99754169	59384494	531	52742											
PILRA	29992	broad.mit.edu	37	chr7	99971837	99971837	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggggccacttccacaggCagtccttctacagcacaagg	11	14	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:99971837C>T	uc003uuo.1	+	2	447	c.235C>T	c.(235-237)CAG>TAG	p.Q79*	PILRA_uc011kjn.1_Nonsense_Mutation_p.Q79*|PILRA_uc011kjo.1_Nonsense_Mutation_p.Q79*|PILRA_uc003uup.1_Nonsense_Mutation_p.Q79*|PILRA_uc003uuq.1_Nonsense_Mutation_p.Q79*	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN	paired immunoglobulin-like type 2 receptor alpha	79	Extracellular (Potential).|Ig-like V-type.				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTCCACAGGCAGTCCTTCTA	0.552													T	99971837	C	T	99971837	4	4	75	1	0	0	0	0	0	1	0	0	11925	711	25	2	241	2	PILRA	7	99971837	Nonsense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	217668	99971837	59166826	532	52743											
FBXO24	26261	broad.mit.edu	37	chr7	100198185	100198185	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcctgtgccctctgtgCcaccagggagtgcctataca	12	13	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:100198185C>A	uc003uvm.1	+	10	1699	c.1406C>A	c.(1405-1407)GCC>GAC	p.A469D	FBXO24_uc003uvn.1_Missense_Mutation_p.A107D|uc011kjy.1_Intron|FBXO24_uc011kjz.1_Missense_Mutation_p.A507D|FBXO24_uc011kka.1_Missense_Mutation_p.A457D|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.2_5'Flank|PCOLCE_uc010lhb.1_5'Flank	NM_033506	NP_277041	O75426	FBX24_HUMAN	F-box only protein 24 isoform 1	469						ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCCCTCTGTGCCACCAGGGAG	0.642													A	100198185	C	A	100198185	3	1	75	1	0	0	0	0	1	0	0	0	5735	739	26	5	1601	5	FBXO24	7	100198185	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	226348	100198185	58940478	533	52744											
PLOD3	8985	broad.mit.edu	37	chr7	100855927	100855928	+	Frame_Shift_Ins	INS	-	-	G													aacacggccagaaacacccgINSggggggaggctggaagatgc					rs138002558	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:100855926_100855927C>CG	uc003uyd.3	-	8	1345_1346	c.889_890G>CG	c.(889-891)cggfs	p.R297fs		NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	297					protein modification process	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.R297fs*61(4)|p.P296L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CAGAAACACCCGGGGGGGAGGC	0.639													G	100855928	-	G	100855927	7	5	75	1	0	1	1	0	0	0	0	0	12103	1115	39	0	1371	0	PLOD3	7	100855927	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	657742	100855927	58282736	534	52745											
CUX1	1523	broad.mit.edu	37	chr7	101839974	101839975	+	Frame_Shift_Ins	INS	-	-	C													cgcccgggatctttgccggcINScccccctccttctcagttgc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:101839973_101839974G>GC	uc003uys.4	+	14	1442_1443	c.1315_1316G>GC	c.(1315-1317)gccfs	p.A439fs	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Frame_Shift_Ins_p.A428fs	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	428					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G439V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ATCTTTGCCGGCCCCCCCTCCT	0.564													C	101839975	-	C	101839974	7	5	75	1	0	1	1	0	0	0	0	0	4064	739	26	0	1408	0	CUX1	7	101839974	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	984047	101839974	57298689	535	52746											
PSMC2	5701	broad.mit.edu	37	chr7	103004631	103004631	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcattgagcctcccaagggCgtgctgctctttggtccacc	12	14	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:103004631C>T	uc003vbs.2	+	8	703	c.633C>T	c.(631-633)GGC>GGT	p.G211G	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Silent_p.G74G	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	211					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0						CTCCCAAGGGCGTGCTGCTCT	0.493													T	103004631	C	T	103004631	2	4	75	1	0	0	0	0	0	0	0	1	12686	755	27	1		1	PSMC2	7	103004631	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1164657	103004631	56134032	536	52747											
RELN	5649	broad.mit.edu	37	chr7	103290771	103290771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtcctgtttgtctccagCgaatcctggtgttccgggtt	12	10	1	0	rs144078760		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:103290771C>T	uc003vca.2	-	16	2112	c.1952G>A	c.(1951-1953)CGC>CAC	p.R651H	RELN_uc010liz.2_Missense_Mutation_p.R651H	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	651					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTGTCTCCAGCGAATCCTGGT	0.433													T	103290771	C	T	103290771	3	4	75	1	0	0	0	0	1	0	0	0	13220	768	27	1	8630	1	RELN	7	103290771	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	286140	103290771	55847892	537	52748											
NRCAM	4897	broad.mit.edu	37	chr7	107838532	107838532	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atctatttttctgctggggtCatcaggggcaactgtttgga	12	7	4	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:107838532C>T	uc003vfb.2	-	14	1690	c.1219G>A	c.(1219-1221)GAC>AAC	p.D407N	NRCAM_uc003vfc.2_Missense_Mutation_p.D401N|NRCAM_uc011kmk.1_Missense_Mutation_p.D402N|NRCAM_uc003vfd.2_Missense_Mutation_p.D383N|NRCAM_uc003vfe.2_Missense_Mutation_p.D383N	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	407	Ig-like 4.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						CTGCTGGGGTCATCAGGGGCA	0.328													T	107838532	C	T	107838532	3	4	75	1	0	0	0	0	1	0	0	0	10644	826	29	4	2805	4	NRCAM	7	107838532	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	4547761	107838532	51300131	538	52749											
IFRD1	3475	broad.mit.edu	37	chr7	112108039	112108040	+	Frame_Shift_Ins	INS	-	-	T													tgcttttcttgtccaggactINSttttttatgaagacatggag							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:112108038_112108039C>CT	uc003vgh.3	+	9	1379_1380	c.909_910C>CT	c.(907-912)gactttfs	p.D303fs	IFRD1_uc011kmn.2_Frame_Shift_Ins_p.D253fs|IFRD1_uc003vgj.3_Frame_Shift_Ins_p.D303fs|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Frame_Shift_Ins_p.D253fs|IFRD1_uc003vgk.3_Frame_Shift_Ins_p.D20fs	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	303					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TTGTCCAGGACTTTTTTTATGA	0.391													T	112108040	-	T	112108039	7	5	75	1	0	1	1	0	0	0	0	0	7553	1609	56	0	944	0	IFRD1	7	112108039	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	4269507	112108039	47030624	539	52750											
CFTR	1080	broad.mit.edu	37	chr7	117182086	117182086	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataggatttcttacaaaagcAagaatataagacattggaat	7	4	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:117182086A>G	uc003vjd.2	+	9	1265	c.1133A>G	c.(1132-1134)CAA>CGA	p.Q378R	CFTR_uc011knq.1_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	378	Cytoplasmic (Potential).				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTACAAAAGCAAGAATATAAG	0.294									Cystic_Fibrosis				G	117182086	A	G	117182086	3	3	75	1	0	0	0	0	1	0	0	0	3294	130	5	3	1167	3	CFTR	7	117182086	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	5074047	117182086	41956577	540	52751											
GRM8	2918	broad.mit.edu	37	chr7	126086333	126086333	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attctgttctggatgaaaaaTtataatataaaccttgggca	7	5	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:126086333T>A	uc003vlr.2	-	9	2835	c.2524A>T	c.(2524-2526)ATT>TTT	p.I842F	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.I842F|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	842	Helical; Name=7; (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGATGAAAAATTATAATATAA	0.418										HNSCC(24;0.065)			A	126086333	T	A	126086333	3	1	75	1	0	0	0	0	1	0	0	0	6803	1493	52	5	260	5	GRM8	7	126086333	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	8904247	126086333	33052330	541	52752											
LRRC4	64101	broad.mit.edu	37	chr7	127669905	127669905	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacaagtgaagccagcccGtcaaaagcattccgctcaat	7	14	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:127669905G>A	uc003vmk.2	-	2	926	c.789C>T	c.(787-789)GAC>GAT	p.D263D	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	263	Extracellular (Potential).|LRR 8.					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		AAGCCAGCCCGTCAAAAGCAT	0.547													A	127669905	G	A	127669905	2	1	75	1	0	0	0	0	0	0	0	1	8997	1136	40	1		1	LRRC4	7	127669905	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1583572	127669905	31468758	542	52753											
SND1	27044	broad.mit.edu	37	chr7	127724828	127724828	+	Frame_Shift_Del	DEL	C	C	-													cgcaatgacattgccagtcaCccccctgtagagggctccta							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:127724827_127724827AC>A	uc003vmi.3	+	18	2388	c.2162_2162AC>A	c.(2161-2163)cacfs	p.H721fs	SND1_uc010lle.3_Frame_Shift_Del_p.H374fs	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	721					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						ATTGCCAGTCACCCCCCTGTA	0.562													-	127724828	C	-	127724828	7	5	75	1	0	1	0	1	0	0	0	0	14844	506	18	0	2237	0	SND1	7	127724828	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	54923	127724828	31413835	543	52754											
AKR1B10	57016	broad.mit.edu	37	chr7	134222396	134222396	+	Frame_Shift_Del	DEL	A	A	-													aggagattgctgcaaagcacAaaaaaaccgcagcccaggtg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:134222395_134222395CA>C	uc003vrr.3	+	6	1043	c.723_723CA>C	c.(721-723)cacfs	p.H241fs		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	241					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	p.H241N(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CTGCAAAGCACAAAAAAACCG	0.443													-	134222396	A	-	134222396	7	5	75	1	0	1	0	1	0	0	0	0	467	131	5	0	750	0	AKR1B10	7	134222396	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	6497568	134222396	24916267	544	52755											
C7orf49	78996	broad.mit.edu	37	chr7	134851435	134851435	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctcagggctcctgctacaGgcagagctggaaccccccgg	12	16	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:134851435G>T	uc003vsl.2	-	4	669	c.402C>A	c.(400-402)GCC>GCA	p.A134A	C7orf49_uc003vsh.2_Intron|C7orf49_uc003vsj.2_Silent_p.A105A|C7orf49_uc003vsk.2_RNA|C7orf49_uc003vsm.2_RNA|C7orf49_uc003vsn.2_Silent_p.A133A|C7orf49_uc003vso.2_Silent_p.A79A	NM_024033	NP_076938	Q9BWK5	MRI_HUMAN	modulator of retrovirus infection	134						cytoplasm				large_intestine(1)|ovary(1)	2						TCCTGCTACAGGCAGAGCTGG	0.577													T	134851435	G	T	134851435	2	4	75	1	0	0	0	0	0	0	0	1	2398	987	35	5		5	C7orf49	7	134851435	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	629039	134851435	24287228	545	52756											
KIAA1549	57670	broad.mit.edu	37	chr7	138601984	138601984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagactcagttaaaatgggCgttgtgtggacagtggtcaa	14	5	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:138601984C>T	uc011kql.1	-	2	2437	c.2388G>A	c.(2386-2388)ACG>ACA	p.T796T	KIAA1549_uc003vuk.3_Silent_p.T746T|KIAA1549_uc011kqj.1_Silent_p.T796T	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	796						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						TTAAAATGGGCGTTGTGTGGA	0.512			O	BRAF	pilocytic astrocytoma								T	138601984	C	T	138601984	2	4	75	1	0	0	0	0	0	0	0	1	8244	755	27	1		1	KIAA1549	7	138601984	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3750549	138601984	20536679	546	52757											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138758758	138758758	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attacccgaaaattgattgtAtaacttcctacagaacagct	5	9	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:138758758A>G	uc003vun.2	-	7	2104	c.1716T>C	c.(1714-1716)TAT>TAC	p.Y572Y	ZC3HAV1_uc003vuo.2_Silent_p.Y33Y|ZC3HAV1_uc003vup.2_Silent_p.Y572Y	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	zinc finger antiviral protein isoform 1	572					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1						AATTGATTGTATAACTTCCTA	0.418													G	138758758	A	G	138758758	2	3	75	1	0	0	0	0	0	0	0	1	17572	456	16	3		3	ZC3HAV1	7	138758758	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	156774	138758758	20379905	547	52758											
BRAF	673	broad.mit.edu	37	chr7	140534520	140534520	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaactgaaagagatgaaggTagcactgaaaggctagaaga	12	4	0	6			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:140534520T>C	uc003vwc.3	-	3	454	c.393A>G	c.(391-393)CTA>CTG	p.L131L		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	131					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	GAGATGAAGGTAGCACTGAAA	0.438		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				C	140534520	T	C	140534520	2	2	75	1	0	0	0	0	0	0	0	1	1496	1625	57	3		3	BRAF	7	140534520	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1775762	140534520	18604143	548	52759											
TRPV6	55503	broad.mit.edu	37	chr7	142569632	142569632	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggggctgaagggacagcccAgctctagtttttccactgag	14	10	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:142569632A>C	uc003wbx.1	-	15	2222	c.2006T>G	c.(2005-2007)CTG>CGG	p.L669R	TRPV6_uc003wbw.1_Missense_Mutation_p.L455R|TRPV6_uc010lou.1_Missense_Mutation_p.L540R	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	669	Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					GGGACAGCCCAGCTCTAGTTT	0.587													C	142569632	A	C	142569632	3	2	75	1	0	0	0	0	1	0	0	0	16597	188	7	5	175	5	TRPV6	7	142569632	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	2035112	142569632	16569031	549	52760											
EPHA1	2041	broad.mit.edu	37	chr7	143094660	143094660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggagctggcacctggacCggaaaacgagaatcccaagc	13	12	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:143094660C>T	uc003wcz.2	-	9	1793	c.1706G>A	c.(1705-1707)CGG>CAG	p.R569Q		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	569	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCACCTGGACCGGAAAACGAG	0.612													T	143094660	C	T	143094660	3	4	75	1	0	0	0	0	1	0	0	0	5165	652	23	1	1264	1	EPHA1	7	143094660	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	525028	143094660	16044003	550	52761											
OR2A7	401427	broad.mit.edu	37	chr7	143956655	143956655	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagcccaaagaggagcatctGaatccttgggccaacgggaa	13	10	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:143956655G>A	uc011kuc.1	-	1	67	c.67C>T	c.(67-69)CAG>TAG	p.Q23*	OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.2_3'UTR	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A,	23	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.14)					AGGAGCATCTGAATCCTTGGG	0.517													A	143956655	G	A	143956655	4	1	75	1	0	0	0	0	0	1	0	0	10982	1299	45	4	868	4	OR2A7	7	143956655	Nonsense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	861995	143956655	15182008	551	52762											
CNTNAP2	26047	broad.mit.edu	37	chr7	146741142	146741142	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgaagtttatggctgttcTtactgtgagtatcgtattgt	10	4	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:146741142T>C	uc003weu.1	+	4	1062	c.546T>C	c.(544-546)TCT>TCC	p.S182S		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	182	Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATGGCTGTTCTTACTGTGAGT	0.348										HNSCC(39;0.1)			C	146741142	T	C	146741142	2	2	75	1	0	0	0	0	0	0	0	1	3647	1596	56	3		3	CNTNAP2	7	146741142	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	2784487	146741142	12397521	552	52763											
ZNF746	155061	broad.mit.edu	37	chr7	149171850	149171850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggatgaggtgcgcggggcgCgtgaagcaacggccgcactc	18	12	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:149171850C>T	uc003wfw.2	-	7	1831	c.1560G>A	c.(1558-1560)ACG>ACA	p.T520T	ZNF746_uc010lpi.2_Silent_p.T521T	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 2	520	C2H2-type 2.				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|breast(1)	3	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCGCGGGGCGCGTGAAGCAAC	0.512													T	149171850	C	T	149171850	2	4	75	1	0	0	0	0	0	0	0	1	18126	755	27	1		1	ZNF746	7	149171850	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2430708	149171850	9966813	553	52764											
SLC4A2	6522	broad.mit.edu	37	chr7	150761764	150761764	+	Frame_Shift_Del	DEL	G	G	-													gaaaccccgaccattgaggaGggggaggaagatgaggatga							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:150761763_150761763AG>A	uc022apz.1	+	3	1408	c.368_368AG>A	c.(367-369)gagfs	p.E123fs	SLC4A2_uc003wit.4_Frame_Shift_Del_p.E123fs|SLC4A2_uc011kve.2_Frame_Shift_Del_p.E114fs|SLC4A2_uc003wiu.4_Frame_Shift_Del_p.E109fs	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	123	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCATTGAGGAGGGGGAGGAA	0.701													-	150761764	G	-	150761764	7	5	75	1	0	1	0	1	0	0	0	0	14654	991	35	0	379	0	SLC4A2	7	150761764	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	1589914	150761764	8376899	554	52765											
WDR86	349136	broad.mit.edu	37	chr7	151082222	151082222	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgttgcgtctgtgggccgTgaacgtgcgcacacactccc	12	15	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:151082222T>C	uc003wkb.2	-	4	1263	c.814A>G	c.(814-816)ACG>GCG	p.T272A	WDR86_uc003wka.2_Missense_Mutation_p.T230A|WDR86_uc011kvk.1_Missense_Mutation_p.H293R|WDR86_uc003wkc.2_Intron	NM_198285	NP_938026	Q86TI4	WDR86_HUMAN	WD repeat domain 86	272	WD 6.										0			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGTGGGCCGTGAACGTGCGC	0.647													C	151082222	T	C	151082222	3	2	75	1	0	0	0	0	1	0	0	0	17331	1696	59	3	328	3	WDR86	7	151082222	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	320458	151082222	8056441	555	52766											
GALNT11	63917	broad.mit.edu	37	chr7	151791543	151791543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaagcaaacaaaattgaCgatgtgatagacagtcgtgt	9	6	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:151791543C>T	uc010lqg.1	+	2	461	c.231C>T	c.(229-231)GAC>GAT	p.D77D	GALNT11_uc011kvm.1_Intron|GALNT11_uc003wku.2_Silent_p.D77D|GALNT11_uc003wkv.1_Silent_p.D77D|GALNT11_uc011kvn.1_RNA	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	77	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		ACAAAATTGACGATGTGATAG	0.448													T	151791543	C	T	151791543	2	4	75	1	0	0	0	0	0	0	0	1	6209	535	19	1		1	GALNT11	7	151791543	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	709321	151791543	7347120	556	52767											
MLL3	58508	broad.mit.edu	37	chr7	151845524	151845524	+	Frame_Shift_Del	DEL	A	A	-													caaagcatagttttgtccttAaaaaacatgcattgtgcttt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:151845523_151845523TA>T	uc003wla.3	-	51	13708	c.13489_13489TA>A	c.(13489-13491)aagfs	p.K4497fs	MLL3_uc003wkz.3_Frame_Shift_Del_p.K3615fs|MLL3_uc003wkx.3_Frame_Shift_Del_p.K655fs|MLL3_uc003wky.3_Frame_Shift_Del_p.K2061fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4497					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.M4551fs*17(1)|p.M4494fs*17(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTTTTGTCCTTAAAAAACATG	0.433			N		medulloblastoma								-	151845524	A	-	151845524	7	5	75	1	0	1	0	1	0	0	0	0	9622	359	13	0	1279	0	MLL3	7	151845524	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	53981	151845524	7293139	557	52768											
MLL3	58508	broad.mit.edu	37	chr7	151921130	151921132	+	In_Frame_Del	DEL	TCT	TCT	-													gtctacattgcagaataagaTcttcttctctatagtttcga							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:151921129_151921131ATCT>A	uc003wla.3	-	19	3511_3513	c.3292_3294AGAT>T	c.(3292-3294)gat>T	p.D1098del	MLL3_uc003wkz.3_In_Frame_Del_p.D159del	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1098					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCAGAATAAGATCTTCTTCTCTA	0.355			N		medulloblastoma								-	151921132	TCT	-	151921130	7	5	75	1	0	1	0	1	0	0	0	0	9622	1435	50	0	11602	0	MLL3	7	151921130	In_Frame_Del	DEL	TCT	TCGA-BR-8363-01A-11D-2340-08	75606	151921130	7217533	558	52769											
MLL3	58508	broad.mit.edu	37	chr7	152008901	152008901	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgtagaatcaaataaggCttggatatcaatggcatctg	9	7	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:152008901C>A	uc003wla.2	-	5	940	c.721G>T	c.(721-723)GCC>TCC	p.A241S		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	241					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TCAAATAAGGCTTGGATATCA	0.378			N		medulloblastoma								A	152008901	C	A	152008901	3	1	75	1	0	0	0	0	1	0	0	0	9622	797	28	5	14234	5	MLL3	7	152008901	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	87771	152008901	7129762	559	52770											
RBM33	155435	broad.mit.edu	37	chr7	155499646	155499646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagctccaggcggggaggaCggcgaggaggtccgctgatg	19	10	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:155499646C>T	uc010lqk.1	+	7	1200	c.832C>T	c.(832-834)CGG>TGG	p.R278W	RBM33_uc011kvv.1_Missense_Mutation_p.R87W	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	278							nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GCGGGGAGGACGGCGAGGAGG	0.582													T	155499646	C	T	155499646	3	4	75	1	0	0	0	0	1	0	0	0	13130	527	19	1	858	1	RBM33	7	155499646	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3490745	155499646	3639017	560	52771											
RBM33	155435	broad.mit.edu	37	chr7	155534589	155534589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaggaacagcaatttgcGtgaattacccatagcgccgt	10	11	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:155534589G>A	uc010lqk.1	+	13	2494	c.2126G>A	c.(2125-2127)CGT>CAT	p.R709H	RBM33_uc011kvv.1_Missense_Mutation_p.R518H	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	709							nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AGCAATTTGCGTGAATTACCC	0.507													A	155534589	G	A	155534589	3	1	75	1	0	0	0	0	1	0	0	0	13130	1145	40	1	2176	1	RBM33	7	155534589	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	34943	155534589	3604074	561	52772											
MNX1	3110	broad.mit.edu	37	chr7	156798351	156798351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcctcgtcctcgtcctcctCggggtcactgtccctcaagt	9	17	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:156798351C>T	uc003wnd.1	-	3	1372	c.1069G>A	c.(1069-1071)GAG>AAG	p.E357K	MNX1_uc003wmz.2_Intron|MNX1_uc003wna.2_Intron|MNX1_uc010lqq.1_Missense_Mutation_p.E150K|MNX1_uc003wnc.1_Missense_Mutation_p.E145K|MNX1_uc010lqr.1_RNA	NM_005515	NP_005506	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1 isoform 1	357					humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGTCCTCCTCGGGGTCACTG	0.726									Currarino_syndrome				T	156798351	C	T	156798351	3	4	75	1	0	0	0	0	1	0	0	0	9679	893	31	1	140	1	MNX1	7	156798351	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1263762	156798351	2340312	562	52773											
UBE3C	9690	broad.mit.edu	37	chr7	157046707	157046707	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcgccaaccggattgcGtacatccacttggtggcaga	11	13	0	1	rs150266636	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:157046707G>A	uc010lqs.2	+	20	3066	c.2754G>A	c.(2752-2754)GCG>GCA	p.A918A	UBE3C_uc003wni.3_Silent_p.A281A	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	918	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(2)|large_intestine(1)	5		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ACCGGATTGCGTACATCCACT	0.532													A	157046707	G	A	157046707	2	1	75	1	0	0	0	0	0	0	0	1	16878	1132	40	1		1	UBE3C	7	157046707	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	248356	157046707	2091956	563	52774											
NCAPG2	54892	broad.mit.edu	37	chr7	158443607	158443607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcacaggggtgtctgtgtGccgagactgaacagcagtaa	15	8	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:158443607G>A	uc003wnv.1	-	24	3137	c.2992C>T	c.(2992-2994)CAC>TAC	p.H998Y	NCAPG2_uc010lqu.1_Intron|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.H998Y|NCAPG2_uc011kwe.1_Missense_Mutation_p.H998Y|NCAPG2_uc011kwc.1_Intron|NCAPG2_uc011kwd.1_Missense_Mutation_p.H441Y	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	998					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GTGTCTGTGTGCCGAGACTGA	0.463													A	158443607	G	A	158443607	3	1	75	1	0	0	0	0	1	0	0	0	10208	1319	46	2	459	2	NCAPG2	7	158443607	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1396900	158443607	695056	564	52775											
NCAPG2	54892	broad.mit.edu	37	chr7	158447310	158447310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcatgattccaagactcCgctgtaagagttgcatctga	9	9	1	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:158447310C>T	uc003wnv.1	-	22	2868	c.2723G>A	c.(2722-2724)CGG>CAG	p.R908Q	NCAPG2_uc010lqu.1_Missense_Mutation_p.R700Q|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.R908Q|NCAPG2_uc011kwe.1_Missense_Mutation_p.R908Q|NCAPG2_uc011kwc.1_Missense_Mutation_p.R409Q|NCAPG2_uc011kwd.1_Missense_Mutation_p.R351Q	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	908					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TCCAAGACTCCGCTGTAAGAG	0.458													T	158447310	C	T	158447310	3	4	75	1	0	0	0	0	1	0	0	0	10208	652	23	1	736	1	NCAPG2	7	158447310	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3703	158447310	691353	565	52776											
ZNF596	169270	broad.mit.edu	37	chr8	195439	195439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagagataacattggaatgtCgtgtgtgtgggaaaaccttt	13	4	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:195439C>T	uc003wot.2	+	6	880	c.592C>T	c.(592-594)CGT>TGT	p.R198C	ZNF596_uc003wou.2_Missense_Mutation_p.R97C|ZNF596_uc003wov.2_Missense_Mutation_p.R198C|ZNF596_uc003wow.2_Missense_Mutation_p.R198C	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	198	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		ATTGGAATGTCGTGTGTGTGG	0.403													T	195439	C	T	195439	3	4	75	1	0	0	0	0	1	0	0	0	18023	884	31	1	610	1	ZNF596	8	195439	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08		195439	146168583	566	52777											
ZNF596	169270	broad.mit.edu	37	chr8	195650	195650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaaagttctaaccttagacGacatgagatgattcacacta	6	8	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:195650G>A	uc003wot.2	+	6	1091	c.803G>A	c.(802-804)CGA>CAA	p.R268Q	ZNF596_uc003wou.2_Missense_Mutation_p.R167Q|ZNF596_uc003wov.2_Missense_Mutation_p.R268Q|ZNF596_uc003wow.2_Missense_Mutation_p.R268Q	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	268	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		AACCTTAGACGACATGAGATG	0.418													A	195650	G	A	195650	3	1	75	1	0	0	0	0	1	0	0	0	18023	1058	37	1	821	1	ZNF596	8	195650	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	211	195650	146168372	567	52778											
ERICH1	157697	broad.mit.edu	37	chr8	623991	623991	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgggatttttaaatttttTctttgatttatgcttcctaa	5	4	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:623991T>C	uc003wph.2	-	4	426	c.361A>G	c.(361-363)AAA>GAA	p.K121E	ERICH1_uc011kwh.1_Missense_Mutation_p.K121E|ERICH1_uc003wpe.1_Missense_Mutation_p.K27E|ERICH1_uc003wpi.2_5'UTR	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	121										large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TTAAATTTTTTCTTTGATTTA	0.333													C	623991	T	C	623991	3	2	75	1	0	0	0	0	1	0	0	0	5230	1792	62	3	982	3	ERICH1	8	623991	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	428341	623991	145740031	568	52779											
CSMD1	64478	broad.mit.edu	37	chr8	3253876	3253876	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcccatctctgacctccaaGgtgtcataattgacctctgt	8	13	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:3253876G>T	uc011kwk.1	-	17	2826	c.2436C>A	c.(2434-2436)ACC>ACA	p.T812T	CSMD1_uc011kwj.1_Silent_p.T204T|CSMD1_uc003wqe.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	812	Extracellular (Potential).|CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGACCTCCAAGGTGTCATAAT	0.522													T	3253876	G	T	3253876	2	4	75	1	0	0	0	0	0	0	0	1	3944	987	35	5		5	CSMD1	8	3253876	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2629885	3253876	143110146	569	52780											
SGK223	157285	broad.mit.edu	37	chr8	8235193	8235193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgtccccggagggcgaGcacctttgatcactgtcatc	11	14	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:8235193G>A	uc003wsh.3	-	2	726	c.726C>T	c.(724-726)TGC>TGT	p.C242C		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	242							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						CGGAGGGCGAGCACCTTTGAT	0.647													A	8235193	G	A	8235193	2	1	75	1	0	0	0	0	0	0	0	1	14210	963	34	2		2	SGK223	8	8235193	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	4981317	8235193	138128829	570	52781											
PINX1	54984	broad.mit.edu	37	chr8	10623283	10623283	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccttttacgttccacctgCgtctcagaaatgtcagaccc	6	16	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:10623283C>T	uc003wth.2	-	7	648	c.615G>A	c.(613-615)ACG>ACA	p.T205T	SOX7_uc011kwz.1_Intron|PINX1_uc003wti.2_3'UTR	NM_017884	NP_060354	Q96BK5	PINX1_HUMAN	PIN2-interacting protein 1	205				T -> A (in Ref. 6; AAS19507).	mitotic metaphase plate congression|negative regulation of cell proliferation	chromosome, telomeric region|condensed chromosome kinetochore|mitochondrion|nuclear chromosome|nucleolus|spindle	protein binding|telomerase inhibitor activity|telomeric RNA binding			lung(1)|kidney(1)|skin(1)	3				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		GTTCCACCTGCGTCTCAGAAA	0.522													T	10623283	C	T	10623283	2	4	75	1	0	0	0	0	0	0	0	1	11933	755	27	1		1	PINX1	8	10623283	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2388090	10623283	135740739	571	52782											
XKR6	286046	broad.mit.edu	37	chr8	10755762	10755762	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgttacggctctggtgggCgtaacctgggtcccccggta	14	13	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:10755762C>T	uc003wtk.1	-	3	1653	c.1626G>A	c.(1624-1626)ACG>ACA	p.T542T		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	542						integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CTCTGGTGGGCGTAACCTGGG	0.637													T	10755762	C	T	10755762	2	4	75	1	0	0	0	0	0	0	0	1	17432	755	27	1		1	XKR6	8	10755762	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	132479	10755762	135608260	572	52783											
CTSB	1508	broad.mit.edu	37	chr8	11710150	11710150	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgggcccacccaggaaggTaccacatagcctcttcaagt	9	14	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:11710150T>C	uc003wum.2	-	5	505	c.181A>G	c.(181-183)ACC>GCC	p.T61A	CTSB_uc011kxl.1_Intron|CTSB_uc003wun.2_Missense_Mutation_p.T61A|CTSB_uc003wuo.2_Missense_Mutation_p.T61A|CTSB_uc003wup.2_Missense_Mutation_p.T61A|CTSB_uc003wuq.2_Missense_Mutation_p.T61A|CTSB_uc010lsc.2_5'UTR|CTSB_uc003wur.2_Missense_Mutation_p.T61A|CTSB_uc003wus.1_Missense_Mutation_p.T61A|CTSB_uc003wut.1_Missense_Mutation_p.T61A|CTSB_uc003wuu.2_5'Flank	NM_147780	NP_680090	P07858	CATB_HUMAN	cathepsin B preproprotein	61					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity				0	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CCCAGGAAGGTACCACATAGC	0.602													C	11710150	T	C	11710150	3	2	75	1	0	0	0	0	1	0	0	0	4030	1638	57	3	870	3	CTSB	8	11710150	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	954388	11710150	134653872	573	52784											
MSR1	4481	broad.mit.edu	37	chr8	16035397	16035397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccccctctacttactcGgaggaagcaaagctgtcatt	7	14	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:16035397G>A	uc003wwz.2	-	2	299	c.101C>T	c.(100-102)CCG>CTG	p.P34L	MSR1_uc010lsu.2_Missense_Mutation_p.P52L|MSR1_uc003wxa.2_Missense_Mutation_p.P34L|MSR1_uc003wxb.2_Missense_Mutation_p.P34L|MSR1_uc011kxz.1_5'UTR	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	34	Cytoplasmic (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)		CTACTTACTCGGAGGAAGCAA	0.428													A	16035397	G	A	16035397	3	1	75	1	0	0	0	0	1	0	0	0	9886	1116	39	1	1338	1	MSR1	8	16035397	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	4325247	16035397	130328625	574	52785											
SLC7A2	6542	broad.mit.edu	37	chr8	17409402	17409402	+	Frame_Shift_Del	DEL	A	A	-													gccgtactacctcctcgatgAaaaaagcccccttcctgtag							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:17409401_17409401GA>G	uc011kye.2	+	5	1129	c.1081_1081GA>G	c.(1081-1083)gaafs	p.E361fs	SLC7A2_uc011kyc.2_Frame_Shift_Del_p.E321fs|SLC7A2_uc011kyd.2_Frame_Shift_Del_p.E361fs	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	321					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	p.P361R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CCTCCTCGATGAAAAAAGCCC	0.468													-	17409402	A	-	17409402	7	5	75	1	0	1	0	1	0	0	0	0	14697	246	9	0	1104	0	SLC7A2	8	17409402	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	1374005	17409402	128954620	575	52786											
SH2D4A	63898	broad.mit.edu	37	chr8	19252128	19252128	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtcagcaggaccagctgcCtgactacctggagctgtttg	13	11	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:19252128C>A	uc003wzb.2	+	10	1676	c.1340C>A	c.(1339-1341)CCT>CAT	p.P447H	SH2D4A_uc011kym.1_Missense_Mutation_p.P402H|SH2D4A_uc003wzc.2_Missense_Mutation_p.P447H	NM_022071	NP_071354	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	447						cytoplasm|nucleus	protein binding				0				Colorectal(111;0.0732)		GACCAGCTGCCTGACTACCTG	0.552													A	19252128	C	A	19252128	3	1	75	1	0	0	0	0	1	0	0	0	14235	681	24	5	1424	5	SH2D4A	8	19252128	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1842726	19252128	127111894	576	52787											
RHOBTB2	23221	broad.mit.edu	37	chr8	22865085	22865085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagctagatgagaacgagCgtgacctcatgcacattgcc	13	10	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:22865085C>T	uc003xcq.2	+	5	1864	c.1327C>T	c.(1327-1329)CGT>TGT	p.R443C	RHOBTB2_uc003xcp.2_Missense_Mutation_p.R465C|RHOBTB2_uc011kzp.1_Missense_Mutation_p.R450C|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	443					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGAGAACGAGCGTGACCTCAT	0.562													T	22865085	C	T	22865085	3	4	75	1	0	0	0	0	1	0	0	0	13334	768	27	1	1426	1	RHOBTB2	8	22865085	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3612957	22865085	123498937	577	52788											
LOXL2	4017	broad.mit.edu	37	chr8	23159645	23159645	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggtgatgccctgatcgccGaagttggcacactcgtaatt	11	10	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:23159645G>A	uc003xdh.1	-	12	2367	c.2028C>T	c.(2026-2028)TTC>TTT	p.F676F	LOXL2_uc010lty.1_Silent_p.F215F	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	676	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCTGATCGCCGAAGTTGGCAC	0.592													A	23159645	G	A	23159645	2	1	75	1	0	0	0	0	0	0	0	1	8900	1049	37	1		1	LOXL2	8	23159645	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	294560	23159645	123204377	578	52789											
NEFL	4747	broad.mit.edu	37	chr8	24813072	24813072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attcatgccccggcatgcttCgatttccagggtcttggcct	10	13	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:24813072C>T	uc003xee.2	-	1	1060	c.958G>A	c.(958-960)GAA>AAA	p.E320K		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	320	Rod.|Coil 2B.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGGCATGCTTCGATTTCCAGG	0.647													T	24813072	C	T	24813072	3	4	75	1	0	0	0	0	1	0	0	0	10315	893	31	1	690	1	NEFL	8	24813072	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1653427	24813072	121550950	579	52790											
CHRNA2	1135	broad.mit.edu	37	chr8	27320707	27320707	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgcccatctgtcctcctccTccaccaccacctccctctcc	2	24	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:27320707T>A	uc010lur.2	-	6	1862	c.1253A>T	c.(1252-1254)GAG>GTG	p.E418V	CHRNA2_uc011lal.1_Missense_Mutation_p.E403V|CHRNA2_uc010lus.2_Missense_Mutation_p.E220V	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	418	Cytoplasmic.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GTCCTCCTCCTCCACCACCAC	0.657													A	27320707	T	A	27320707	3	1	75	1	0	0	0	0	1	0	0	0	3383	1551	54	5	344	5	CHRNA2	8	27320707	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	2507635	27320707	119043315	580	52791											
ESCO2	157570	broad.mit.edu	37	chr8	27657064	27657064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtatatcattgcaggcatttCgtgtcctgtctgaaccaatt	8	9	2	1	rs151218995		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:27657064C>T	uc003xgg.2	+	10	1587	c.1504C>T	c.(1504-1506)CGT>TGT	p.R502C	ESCO2_uc010luy.1_RNA	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	establishment of cohesion 1 homolog 2	502					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			central_nervous_system(1)	1		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GCAGGCATTTCGTGTCCTGTC	0.403									SC_Phocomelia_syndrome				T	27657064	C	T	27657064	3	4	75	1	0	0	0	0	1	0	0	0	5249	884	31	1	1538	1	ESCO2	8	27657064	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	336357	27657064	118706958	581	52792											
GSR	2936	broad.mit.edu	37	chr8	30541660	30541660	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcatagatgcctttgacGttggtattctggaattcgtc	10	8	1	2	rs138286932	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:30541660G>A	uc003xih.1	-	10	1189	c.1098C>T	c.(1096-1098)AAC>AAT	p.N366N		NM_000637	NP_000628	P00390	GSHR_HUMAN	glutathione reductase precursor	366					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			ovary(2)|pancreas(2)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TGCCTTTGACGTTGGTATTCT	0.453													A	30541660	G	A	30541660	2	1	75	1	0	0	0	0	0	0	0	1	6828	1136	40	1		1	GSR	8	30541660	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2884596	30541660	115822362	582	52793											
UNC5D	137970	broad.mit.edu	37	chr8	35583730	35583730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagtgagccggacatacaGcggacccatctgtctgcagg	13	12	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:35583730G>A	uc003xjr.1	+	10	1692	c.1364G>A	c.(1363-1365)AGC>AAC	p.S455N	UNC5D_uc003xjs.1_Missense_Mutation_p.S450N|UNC5D_uc003xju.1_Missense_Mutation_p.S31N|UNC5D_uc003xjt.1_Missense_Mutation_p.S213N	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	455	Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CGGACATACAGCGGACCCATC	0.493													A	35583730	G	A	35583730	3	1	75	1	0	0	0	0	1	0	0	0	16992	971	34	2	1402	2	UNC5D	8	35583730	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	5042070	35583730	110780292	583	52794											
NKX6-3	157848	broad.mit.edu	37	chr8	41504832	41504832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggggaggccccagggccCtgagcaaagcctagacccag	14	15	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:41504832C>T	uc003xoa.2	-	1	47	c.43G>A	c.(43-45)GGG>AGG	p.G15R	NKX6-3_uc010lxa.1_Missense_Mutation_p.G15R	NM_152568	NP_689781	A6NJ46	NKX63_HUMAN	NK6 homeobox 3	Error:Variant_position_missing_in_A6NJ46_after_alignment						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCCCAGGGCCCTGAGCAAAGC	0.672													T	41504832	C	T	41504832	3	4	75	1	0	0	0	0	1	0	0	0	10459	681	24	4	372	4	NKX6-3	8	41504832	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	5921102	41504832	104859190	584	52795											
MYST3	7994	broad.mit.edu	37	chr8	41791029	41791029	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccgcccatcgtggagTcgtaactgcttgggttctca	12	12	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:41791029T>A	uc010lxb.2	-	18	5253	c.4709A>T	c.(4708-4710)GAC>GTC	p.D1570V	MYST3_uc010lxc.2_Missense_Mutation_p.D1570V|MYST3_uc003xon.3_Missense_Mutation_p.D1570V	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1570	Interaction with RUNX1-2.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CATCGTGGAGTCGTAACTGCT	0.587													A	41791029	T	A	41791029	3	1	75	1	0	0	0	0	1	0	0	0	10104	1667	58	5	1309	5	MYST3	8	41791029	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	286197	41791029	104572993	585	52796											
PRKDC	5591	broad.mit.edu	37	chr8	48701555	48701556	+	Frame_Shift_Ins	INS	-	-	T													ttcatacattttttcaatgtINStttttttatttacaggggtt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:48701554_48701555G>GT	uc003xqi.3	-	76	10868_10869	c.10811_10812C>AC	c.(10810-10812)aacfs	p.N3604fs	PRKDC_uc003xqj.3_Frame_Shift_Ins_p.N3604fs	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	3605					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TTTTTTCAATGTTTTTTTTATT	0.401								Non-homologous end-joining					T	48701556	-	T	48701555	7	5	75	1	0	1	1	0	0	0	0	0	12521	1725	60	0	1616	0	PRKDC	8	48701555	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	6910526	48701555	97662467	586	52797											
SNTG1	54212	broad.mit.edu	37	chr8	51617256	51617256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagctggaaagtgacctcGcccagtgggaaagagccttc	14	10	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:51617256G>A	uc010lxy.1	+	17	1506	c.1135G>A	c.(1135-1137)GCC>ACC	p.A379T	SNTG1_uc003xqs.1_Missense_Mutation_p.A379T|SNTG1_uc010lxz.1_Missense_Mutation_p.A379T|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	379	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AAGTGACCTCGCCCAGTGGGA	0.562													A	51617256	G	A	51617256	3	1	75	1	0	0	0	0	1	0	0	0	14874	1087	38	1	1189	1	SNTG1	8	51617256	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2915701	51617256	94746766	587	52798											
PXDNL	137902	broad.mit.edu	37	chr8	52321999	52321999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcacgtgccgtcgtgggCgcggtacttcgcatggaaac	15	11	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:52321999C>T	uc003xqu.3	-	17	2286	c.2185G>A	c.(2185-2187)GCC>ACC	p.A729T	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	729					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCGTCGTGGGCGCGGTACTTC	0.672													T	52321999	C	T	52321999	3	4	75	1	0	0	0	0	1	0	0	0	12848	768	27	1	2234	1	PXDNL	8	52321999	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	704743	52321999	94042023	588	52799											
OPRK1	4986	broad.mit.edu	37	chr8	54147653	54147653	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatgtaaatgttggttgcTgtcttcatctttgtgtatct	8	5	4	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:54147653T>G	uc003xrh.1	-	2	651	c.276A>C	c.(274-276)ACA>ACC	p.T92T	OPRK1_uc003xri.1_Silent_p.T92T|OPRK1_uc010lyc.1_Silent_p.T3T	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	92	Cytoplasmic (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TGTTGGTTGCTGTCTTCATCT	0.383													G	54147653	T	G	54147653	2	3	75	1	0	0	0	0	0	0	0	1	10885	1567	55	5		5	OPRK1	8	54147653	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1825654	54147653	92216369	589	52800											
CLVS1	157807	broad.mit.edu	37	chr8	62371044	62371044	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacatcctataatgcaatgcAcgtgaagcatacgtcctcga	7	12	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:62371044A>G	uc003xuh.2	+	5	1244	c.920A>G	c.(919-921)CAC>CGC	p.H307R	CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	retinaldehyde binding protein 1-like 1	307					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			skin(4)|ovary(1)	5						AATGCAATGCACGTGAAGCAT	0.512													G	62371044	A	G	62371044	3	3	75	1	0	0	0	0	1	0	0	0	3571	159	6	3	934	3	CLVS1	8	62371044	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	8223391	62371044	83992978	590	52801											
BHLHE22	27319	broad.mit.edu	37	chr8	65494426	65494426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccggctgcctcctgccCggagaagtgcgccctgttta	12	17	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:65494426C>T	uc003xvi.2	+	1	1613	c.1079C>T	c.(1078-1080)CCG>CTG	p.P360L	LOC401463_uc003xvh.2_5'UTR	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						GCCTCCTGCCCGGAGAAGTGC	0.657													T	65494426	C	T	65494426	3	4	75	1	0	0	0	0	1	0	0	0	1421	652	23	1	1081	1	BHLHE22	8	65494426	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3123382	65494426	80869596	591	52802											
ARFGEF1	10565	broad.mit.edu	37	chr8	68140340	68140340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtaattcatccatagacAcagcacagagccaacggaca	7	11	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:68140340A>G	uc003xxo.1	-	25	3839	c.3449T>C	c.(3448-3450)GTG>GCG	p.V1150A	ARFGEF1_uc003xxl.1_Missense_Mutation_p.V604A|ARFGEF1_uc003xxn.1_Missense_Mutation_p.V133A	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1150					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATCCATAGACACAGCACAGAG	0.338													G	68140340	A	G	68140340	3	3	75	1	0	0	0	0	1	0	0	0	852	159	6	3	2160	3	ARFGEF1	8	68140340	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	2645914	68140340	78223682	592	52803											
KCNB2	9312	broad.mit.edu	37	chr8	73480260	73480260	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcatccaggagccttcacTtccattttaaatttctaccg	6	13	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:73480260T>C	uc003xzb.2	+	2	879	c.291T>C	c.(289-291)ACT>ACC	p.T97T		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	97	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			GAGCCTTCACTTCCATTTTAA	0.458													C	73480260	T	C	73480260	2	2	75	1	0	0	0	0	0	0	0	1	8013	1596	56	3		3	KCNB2	8	73480260	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	5339920	73480260	72883762	593	52804											
LRRCC1	85444	broad.mit.edu	37	chr8	86019623	86019623	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtatgcttcatggacaaAggcttgcagaggtaaagggc	14	6	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:86019623A>C	uc003ycw.2	+	1	247	c.93A>C	c.(91-93)AAA>AAC	p.K31N	LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_5'UTR|LRRCC1_uc003ycx.2_Missense_Mutation_p.K7T|LRRCC1_uc003ycy.2_5'Flank	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	31					cell division|mitosis	centriole|nucleus					0						TCATGGACAAAGGCTTGCAGA	0.542													C	86019623	A	C	86019623	3	2	75	1	0	0	0	0	1	0	0	0	9026	69	3	5	95	5	LRRCC1	8	86019623	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	12539363	86019623	60344399	594	52805											
ESRP1	54845	broad.mit.edu	37	chr8	95658510	95658510	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgttgccacaatgacagagTgtatcctttaaatcattact	6	9	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:95658510T>C	uc003ygq.3	+	4	673	c.490T>C	c.(490-492)TAT>CAT	p.Y164H	ESRP1_uc003ygr.3_Missense_Mutation_p.Y164H|ESRP1_uc003ygs.3_Missense_Mutation_p.Y164H|ESRP1_uc003ygt.3_Missense_Mutation_p.Y164H|ESRP1_uc003ygu.3_Missense_Mutation_p.Y164H|ESRP1_uc003ygv.2_Missense_Mutation_p.Y4H|ESRP1_uc003ygw.2_Missense_Mutation_p.Y4H	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	164					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						AATGACAGAGTGTATCCTTTA	0.328													C	95658510	T	C	95658510	3	2	75	1	0	0	0	0	1	0	0	0	5258	1710	59	3	504	3	ESRP1	8	95658510	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	9638887	95658510	50705512	595	52806											
VPS13B	157680	broad.mit.edu	37	chr8	100791069	100791069	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttagctcaagcagactgtaAacttctagagtgcagaaatg	9	8	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:100791069A>G	uc003yiv.2	+	42	7775	c.7664A>G	c.(7663-7665)AAA>AGA	p.K2555R	VPS13B_uc003yiw.2_Missense_Mutation_p.K2530R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2555					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCAGACTGTAAACTTCTAGAG	0.443													G	100791069	A	G	100791069	3	3	75	1	0	0	0	0	1	0	0	0	17187	14	1	3	8020	3	VPS13B	8	100791069	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	5132559	100791069	45572953	596	52807											
KLF10	7071	broad.mit.edu	37	chr8	103662532	103662532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttcttctcacccGtgtgggttcgcctgtgtctg	10	12	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:103662532G>A	uc011lhk.1	-	4	1425	c.1271C>T	c.(1270-1272)ACG>ATG	p.T424M	KLF10_uc011lhj.1_Missense_Mutation_p.T413M	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Kruppel-like factor 10 isoform a	424					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			CTTCTCACCCGTGTGGGTTCG	0.517													A	103662532	G	A	103662532	3	1	75	1	0	0	0	0	1	0	0	0	8338	1145	40	1	175	1	KLF10	8	103662532	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2871463	103662532	42701490	597	52808											
DCAF13	25879	broad.mit.edu	37	chr8	104427576	104427576	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgagtcacgtgactggaAgtagtctgggaaaagcggaa	15	8	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:104427576A>C	uc003yln.2	+	1	635	c.358A>C	c.(358-360)AGT>CGT	p.S120R	SLC25A32_uc003yll.2_5'Flank|SLC25A32_uc011lhr.1_5'Flank|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	Error:Variant_position_missing_in_Q9NV06_after_alignment					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						CGTGACTGGAAGTAGTCTGGG	0.627													C	104427576	A	C	104427576	3	2	75	1	0	0	0	0	1	0	0	0	4266	72	3	5	360	5	DCAF13	8	104427576	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	765044	104427576	41936446	598	52809											
OXR1	55074	broad.mit.edu	37	chr8	107691458	107691458	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acactggccaaaagaagaccCtagacaagaaagatggaaga	10	8	0	6			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:107691458C>A	uc011lht.1	+	3	343	c.244C>A	c.(244-246)CTA>ATA	p.L82I	OXR1_uc003ymf.2_Missense_Mutation_p.L81I|OXR1_uc011lhu.1_Missense_Mutation_p.L74I|OXR1_uc010mcg.2_Intron|OXR1_uc003ymg.1_Missense_Mutation_p.L14I|OXR1_uc003ymi.1_5'UTR	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	82					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAGAAGACCCTAGACAAGAA	0.348													A	107691458	C	A	107691458	3	1	75	1	0	0	0	0	1	0	0	0	11334	680	24	5	454	5	OXR1	8	107691458	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3263882	107691458	38672564	599	52810											
TNFRSF11B	4982	broad.mit.edu	37	chr8	119938851	119938851	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctctctacactctctgcGtttactttggtgccaggcaa	7	13	2	0	rs150457771		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:119938851G>A	uc003yon.3	-	4	1022	c.699C>T	c.(697-699)AAC>AAT	p.N233N	TNFRSF11B_uc010mdc.1_RNA	NM_002546	NP_002537	O00300	TR11B_HUMAN	osteoprotegerin precursor	233	Death 1.				apoptosis|skeletal system development		cytokine activity|receptor activity			central_nervous_system(2)	2	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CACTCTCTGCGTTTACTTTGG	0.443													A	119938851	G	A	119938851	2	1	75	1	0	0	0	0	0	0	0	1	16282	1136	40	1		1	TNFRSF11B	8	119938851	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	12247393	119938851	26425171	600	52811											
TAF2	6873	broad.mit.edu	37	chr8	120816158	120816159	+	Frame_Shift_Del	DEL	CT	CT	-													acaagagaaaacatgagcacCtctctctgccatacttccct							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:120816157_120816158CCT>C	uc003you.3	-	4	790_791	c.520_521AGG>G	c.(520-522)ggtfs	p.G174fs		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	174					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AACATGAGCACCTCTCTCTGCC	0.342													-	120816159	CT	-	120816158	7	5	75	1	0	1	0	1	0	0	0	0	15521	681	24	0	3167	0	TAF2	8	120816158	Frame_Shift_Del	DEL	CT	TCGA-BR-8363-01A-11D-2340-08	877307	120816158	25547864	601	52812											
KLHL38	340359	broad.mit.edu	37	chr8	124663997	124663997	+	Frame_Shift_Del	DEL	C	C	-													agctcctgcccttctccaatCcccccgatggagaagatgaa							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:124663996_124663996TC>T	uc003yqs.1	-	0	1195	c.1171_1171GA>A	c.(1171-1173)attfs	p.I391fs		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	391										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCTTCTCCAATCCCCCCGATG	0.587													-	124663997	C	-	124663997	7	5	75	1	0	1	0	1	0	0	0	0	8390	842	30	0	587	0	KLHL38	8	124663997	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	3847839	124663997	21700025	602	52813											
KHDRBS3	10656	broad.mit.edu	37	chr8	136561083	136561083	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgaagtgtttgccccaccTgcagaagcttatgccaggat	10	10	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:136561083T>C	uc003yuv.2	+	4	805	c.411T>C	c.(409-411)CCT>CCC	p.P137P	KHDRBS3_uc003yuw.2_Silent_p.P137P	NM_006558	NP_006549	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal	137					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(2)	2	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TTGCCCCACCTGCAGAAGCTT	0.398													C	136561083	T	C	136561083	2	2	75	1	0	0	0	0	0	0	0	1	8148	1567	55	3		3	KHDRBS3	8	136561083	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	11897086	136561083	9802939	603	52814											
COL22A1	169044	broad.mit.edu	37	chr8	139606405	139606405	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgagatgacttcatgtaCgccgggggcatctgggccag	14	11	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:139606405C>T	uc003yvd.2	-	63	4917	c.4470G>A	c.(4468-4470)GCG>GCA	p.A1490A	COL22A1_uc011ljo.1_Silent_p.A770A	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1490	Pro-rich.|Gly-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACTTCATGTACGCCGGGGGCA	0.602										HNSCC(7;0.00092)			T	139606405	C	T	139606405	2	4	75	1	0	0	0	0	0	0	0	1	3681	523	19	1		1	COL22A1	8	139606405	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3045322	139606405	6757617	604	52815											
ZNF696	79943	broad.mit.edu	37	chr8	144378753	144378753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactgcggccgcgccttcaGccgcagctccttcctccgcg	12	19	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:144378753G>A	uc003yxy.3	+	3	1317	c.908G>A	c.(907-909)AGC>AAC	p.S303N		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	303	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CGCGCCTTCAGCCGCAGCTCC	0.736													A	144378753	G	A	144378753	3	1	75	1	0	0	0	0	1	0	0	0	18096	971	34	2	914	2	ZNF696	8	144378753	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	4772348	144378753	1985269	605	52816											
RHPN1	114822	broad.mit.edu	37	chr8	144458725	144458725	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacaaccgggtgagagagacGgtcgccctggagctgagcta	15	10	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:144458725G>T	uc003yyb.2	+	3	340	c.207G>T	c.(205-207)ACG>ACT	p.T69T		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	rhophilin 1	69	REM.				signal transduction	intracellular				large_intestine(1)	1	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			TGAGAGAGACGGTCGCCCTGG	0.667													T	144458725	G	T	144458725	2	4	75	1	0	0	0	0	0	0	0	1	13350	1103	39	5		5	RHPN1	8	144458725	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	79972	144458725	1905297	606	52817											
PLEC	5339	broad.mit.edu	37	chr8	144991783	144991783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcctcatcgaagaggccgCgcttgtaggccacctccacg	10	16	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:144991783C>T	uc003zaf.1	-	32	12787	c.12617G>A	c.(12616-12618)CGC>CAC	p.R4206H	PLEC_uc003zab.1_Missense_Mutation_p.R4069H|PLEC_uc003zac.1_Missense_Mutation_p.R4073H|PLEC_uc003zad.2_Missense_Mutation_p.R4069H|PLEC_uc003zae.1_Missense_Mutation_p.R4037H|PLEC_uc003zag.1_Missense_Mutation_p.R4047H|PLEC_uc003zah.2_Missense_Mutation_p.R4055H|PLEC_uc003zaj.2_Missense_Mutation_p.R4096H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4206	Plectin 25.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GAAGAGGCCGCGCTTGTAGGC	0.632													T	144991783	C	T	144991783	3	4	75	1	0	0	0	0	1	0	0	0	12052	768	27	1	1441	1	PLEC	8	144991783	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	533058	144991783	1372239	607	52818											
PLEC	5339	broad.mit.edu	37	chr8	144991811	144991811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacctccacgggcagccGgtggctctcctcagggtcga	14	16	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:144991811G>A	uc003zaf.1	-	32	12759	c.12589C>T	c.(12589-12591)CGG>TGG	p.R4197W	PLEC_uc003zab.1_Missense_Mutation_p.R4060W|PLEC_uc003zac.1_Missense_Mutation_p.R4064W|PLEC_uc003zad.2_Missense_Mutation_p.R4060W|PLEC_uc003zae.1_Missense_Mutation_p.R4028W|PLEC_uc003zag.1_Missense_Mutation_p.R4038W|PLEC_uc003zah.2_Missense_Mutation_p.R4046W|PLEC_uc003zaj.2_Missense_Mutation_p.R4087W	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4197	Plectin 25.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						ACGGGCAGCCGGTGGCTCTCC	0.642													A	144991811	G	A	144991811	3	1	75	1	0	0	0	0	1	0	0	0	12052	1115	39	1	1469	1	PLEC	8	144991811	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	28	144991811	1372211	608	52819											
SPATC1	375686	broad.mit.edu	37	chr8	145095791	145095791	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgcccagggtgccccccaTcccccttcccgaatgcataa	7	19	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:145095791T>C	uc011lkw.1	+	3	1191	c.1089T>C	c.(1087-1089)CAT>CAC	p.H363H	SPATC1_uc011lkx.1_Silent_p.H363H	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	363										ovary(1)|central_nervous_system(1)	2	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGCCCCCCATCCCCCTTCCC	0.507													C	145095791	T	C	145095791	2	2	75	1	0	0	0	0	0	0	0	1	15016	1432	50	3		3	SPATC1	8	145095791	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	103980	145095791	1268231	609	52820											
OPLAH	26873	broad.mit.edu	37	chr8	145108142	145108142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatgtaggcctgcaccacGtccaggccgtactgcccaat	9	17	0	0	rs146913583	by1000genomes	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:145108142G>A	uc003zar.3	-	20	2923	c.2841C>T	c.(2839-2841)GAC>GAT	p.D947D	OPLAH_uc003zas.1_Missense_Mutation_p.R222C	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	947							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CCTGCACCACGTCCAGGCCGT	0.647													A	145108142	G	A	145108142	2	1	75	1	0	0	0	0	0	0	0	1	10876	1136	40	1		1	OPLAH	8	145108142	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	12351	145108142	1255880	610	52821											
EXOSC4	54512	broad.mit.edu	37	chr8	145135325	145135325	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggtggcccccagctggccCtggccctgctgccagcctca	12	19	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:145135325C>A	uc003zau.2	+	3	669	c.559C>A	c.(559-561)CTG>ATG	p.L187M	GPAA1_uc003zav.1_5'Flank|GPAA1_uc003zaw.1_5'Flank|GPAA1_uc003zax.2_5'Flank	NM_019037	NP_061910	Q9NPD3	EXOS4_HUMAN	exosome component 4	187					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGCTGGCCCTGGCCCTGCT	0.667													A	145135325	C	A	145135325	3	1	75	1	0	0	0	0	1	0	0	0	5317	680	24	5	569	5	EXOSC4	8	145135325	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	27183	145135325	1228697	611	52822											
SLC39A4	55630	broad.mit.edu	37	chr8	145641416	145641416	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcctccaggaccgggccCgggggcagccctgacccctc	14	19	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:145641416C>T	uc003zcq.2	-	2	352	c.252G>A	c.(250-252)CCG>CCA	p.P84P	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.2_5'Flank|SLC39A4_uc003zco.2_5'Flank|SLC39A4_uc003zcp.2_Silent_p.P59P	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	84	Extracellular (Potential).		P -> L (in AEZ; could be a polymorphism).			cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GGACCGGGCCCGGGGGCAGCC	0.731													T	145641416	C	T	145641416	2	4	75	1	0	0	0	0	0	0	0	1	14620	639	23	1		1	SLC39A4	8	145641416	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	506091	145641416	722606	612	52823											
GPT	2875	broad.mit.edu	37	chr8	145730035	145730035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgtgccaacatcggggacGcacaggctatggggcagagg	16	11	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:145730035G>A	uc011lli.1	+	3	368	c.211G>A	c.(211-213)GCA>ACA	p.A71T	GPT_uc011llj.1_Missense_Mutation_p.A71T|GPT_uc003zdh.3_Missense_Mutation_p.A71T	NM_005309	NP_005300	P24298	ALAT1_HUMAN	glutamic pyruvate transaminase	71					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)|central_nervous_system(1)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CATCGGGGACGCACAGGCTAT	0.672													A	145730035	G	A	145730035	3	1	75	1	0	0	0	0	1	0	0	0	6737	1087	38	1	217	1	GPT	8	145730035	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	88619	145730035	633987	613	52824											
ZNF34	80778	broad.mit.edu	37	chr8	145998752	145998752	+	Frame_Shift_Del	DEL	C	C	-													gctgcacttgtagggcttctCcccggtgtggatcctccggt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:145998751_145998751TC>T	uc003zdy.4	-	5	1685	c.1583_1583GA>A	c.(1582-1584)gagfs	p.E528fs	ZNF34_uc010mgb.3_Frame_Shift_Del_p.E425fs|ZNF34_uc003zdx.4_Frame_Shift_Del_p.E507fs	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	Homo sapiens zinc finger protein 34 (ZNF34), mRNA.	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		GTAGGGCTTCTCCCCGGTGTG	0.562													-	145998752	C	-	145998752	7	5	75	1	0	1	0	1	0	0	0	0	17853	864	30	0	104	0	ZNF34	8	145998752	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	268717	145998752	365270	614	52825											
ZNF517	340385	broad.mit.edu	37	chr8	146033645	146033645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactaccggctccacagcggCgagaggccataccggtgccg	13	16	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:146033645C>T	uc003zed.1	+	5	1451	c.1344C>T	c.(1342-1344)GGC>GGT	p.G448G	ZNF517_uc010mgd.1_Silent_p.G354G|ZNF517_uc003zee.1_RNA|ZNF517_uc011llm.1_Silent_p.G354G|ZNF517_uc003zef.1_Intron	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			TCCACAGCGGCGAGAGGCCAT	0.682													T	146033645	C	T	146033645	2	4	75	1	0	0	0	0	0	0	0	1	17958	755	27	1		1	ZNF517	8	146033645	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	34893	146033645	330377	615	52826											
KIAA2026	158358	broad.mit.edu	37	chr9	6007371	6007371	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttctcttccatctgcagCagacacatgccctgtccggg	8	15	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:6007371C>T	uc003zjq.3	-	1	633	c.417G>A	c.(415-417)CTG>CTA	p.L139L		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	139										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CCATCTGCAGCAGACACATGC	0.701													T	6007371	C	T	6007371	2	4	75	1	0	0	0	0	0	0	0	1	8270	697	25	2		2	KIAA2026	9	6007371	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08		6007371	135206060	616	52827											
RANBP6	26953	broad.mit.edu	37	chr9	6014724	6014724	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acatcggagtggcagtttcaGacaaggtcactataacttcg	10	9	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:6014724G>T	uc003zjr.2	-	1	895	c.884C>A	c.(883-885)TCT>TAT	p.S295Y	RANBP6_uc011lmf.1_Intron|RANBP6_uc003zjs.2_Intron	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	295					protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GGCAGTTTCAGACAAGGTCAC	0.403													T	6014724	G	T	6014724	3	4	75	1	0	0	0	0	1	0	0	0	13031	942	33	5	2437	5	RANBP6	9	6014724	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	7353	6014724	135198707	617	52828											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18775831	18775831	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcaacggttgtcaattccAccctgtgcccgcccctgcct	7	18	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:18775831A>C	uc003zne.3	+	18	2615	c.2488A>C	c.(2488-2490)ACC>CCC	p.T830P		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	830	TSP type-1 7.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		TGTCAATTCCACCCTGTGCCC	0.562													C	18775831	A	C	18775831	3	2	75	1	0	0	0	0	1	0	0	0	274	159	6	5	2562	5	ADAMTSL1	9	18775831	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	12761107	18775831	122437600	618	52829											
MLLT3	4300	broad.mit.edu	37	chr9	20414370	20414370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctgctgctGctgctactgctgctgctgct	12	14	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:20414370G>A	uc003zoe.2	-	5	733	c.474C>T	c.(472-474)AGC>AGT	p.S158S	MLLT3_uc011lne.1_Silent_p.S126S|MLLT3_uc011lnf.1_Silent_p.S155S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Intron	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	158	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctgctactgc	0.139			T	MLL	ALL								A	20414370	G	A	20414370	2	1	75	1	0	0	0	0	0	0	0	1	9628	1310	46	2		2	MLLT3	9	20414370	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1638539	20414370	120799061	619	52830											
LINGO2	158038	broad.mit.edu	37	chr9	27950348	27950348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttttaggcggagggaacGcaggttaaagagattgttga	15	5	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:27950348G>A	uc003zqu.1	-	2	516	c.322C>T	c.(322-324)CGT>TGT	p.R108C	LINGO2_uc010mjf.1_Missense_Mutation_p.R108C|LINGO2_uc003zqv.1_Missense_Mutation_p.R108C	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	108	LRR 3.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGAGGGAACGCAGGTTAAAG	0.438													A	27950348	G	A	27950348	3	1	75	1	0	0	0	0	1	0	0	0	8815	1087	38	1	1502	1	LINGO2	9	27950348	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	7535978	27950348	113263083	620	52831											
NOL6	65083	broad.mit.edu	37	chr9	33466680	33466680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcaacgtaccgccgctaCcagggcctcctcacctgtgc	10	17	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:33466680C>T	uc003zsz.2	-	16	2079	c.1978G>A	c.(1978-1980)GTA>ATA	p.V660I	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Missense_Mutation_p.V657I|NOL6_uc011lob.1_Missense_Mutation_p.V608I|NOL6_uc003ztb.1_Missense_Mutation_p.V660I	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	660					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ACCGCCGCTACCAGGGCCTCC	0.622											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	33466680	C	T	33466680	3	4	75	1	0	0	0	0	1	0	0	0	10525	507	18	4	1506	4	NOL6	9	33466680	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	5516332	33466680	107746751	621	52832											
UBAP2	55833	broad.mit.edu	37	chr9	33927924	33927924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggatgcggaacttgagaCggaggtcgctgccgtggaga	18	7	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:33927924C>T	uc003ztq.1	-	20	2355	c.2242G>A	c.(2242-2244)GTC>ATC	p.V748I	UBAP2_uc011loc.1_Missense_Mutation_p.V657I|UBAP2_uc011lod.1_Missense_Mutation_p.V481I|UBAP2_uc011loe.1_Missense_Mutation_p.V503I|UBAP2_uc011lof.1_Missense_Mutation_p.V673I|UBAP2_uc011log.1_Silent_p.P671P|UBAP2_uc003ztn.1_5'UTR|UBAP2_uc003zto.1_5'UTR|UBAP2_uc003ztp.1_5'UTR	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	748										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GAACTTGAGACGGAGGTCGCT	0.617													T	33927924	C	T	33927924	3	4	75	1	0	0	0	0	1	0	0	0	16834	536	19	1	1157	1	UBAP2	9	33927924	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	461244	33927924	107285507	622	52833											
VCP	7415	broad.mit.edu	37	chr9	35066769	35066769	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtgtcatcaatgggcagCacatggatacgtttgccgta	11	9	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:35066769C>T	uc003zvy.2	-	4	737	c.348G>A	c.(346-348)GTG>GTA	p.V116V	VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_Silent_p.V71V	NM_007126	NP_009057	P55072	TERA_HUMAN	valosin-containing protein	116					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			upper_aerodigestive_tract(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAATGGGCAGCACATGGATAC	0.512													T	35066769	C	T	35066769	2	4	75	1	0	0	0	0	0	0	0	1	17137	697	25	2		2	VCP	9	35066769	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1138845	35066769	106146662	623	52834											
SPAG8	26206	broad.mit.edu	37	chr9	35811581	35811581	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccagagccagagccatgGccagcacctgagctggaacc	13	14	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:35811581G>A	uc003zye.2	-	2	577	c.462C>T	c.(460-462)GGC>GGT	p.G154G	SPAG8_uc003zyf.2_Silent_p.G71G|SPAG8_uc003zyg.2_Silent_p.G154G	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	sperm associated antigen 8 isoform 2	154	Gly-rich.					acrosomal vesicle|membrane				ovary(1)	1	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			cagagccatggccagcacctg	0.09													A	35811581	G	A	35811581	2	1	75	1	0	0	0	0	0	0	0	1	14984	1190	42	2		2	SPAG8	9	35811581	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	744812	35811581	105401850	624	52835											
RECK	8434	broad.mit.edu	37	chr9	36122901	36122901	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actttggcgtcccatgtcccTctctctgccctcatcatttc	5	17	4	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:36122901T>C	uc003zyv.2	+	21	2861	c.2775T>C	c.(2773-2775)CCT>CCC	p.P925P	RECK_uc003zyw.2_Silent_p.P797P|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	925						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CCCATGTCCCTCTCTCTGCCC	0.547													C	36122901	T	C	36122901	2	2	75	1	0	0	0	0	0	0	0	1	13200	1538	54	3		3	RECK	9	36122901	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	311320	36122901	105090530	625	52836											
SMC5	23137	broad.mit.edu	37	chr9	72933542	72933542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacacatctctaaaagtagCgcagtttctcactgtcactg	6	11	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:72933542C>T	uc004ahr.2	+	14	2036	c.1919C>T	c.(1918-1920)GCG>GTG	p.A640V	uc004ahs.1_5'Flank	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	640	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						CTAAAAGTAGCGCAGTTTCTC	0.333													T	72933542	C	T	72933542	3	4	75	1	0	0	0	0	1	0	0	0	14786	768	27	1	1973	1	SMC5	9	72933542	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	36810641	72933542	68279889	626	52837											
ALDH1A1	216	broad.mit.edu	37	chr9	75545894	75545894	+	Frame_Shift_Del	DEL	A	A	-													cgccacggggatccaatctgAaaagcctgtcttgcggcctt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:75545893_75545893GA>G	uc004ajd.3	-	2	531	c.214_214TC>C	c.(214-216)cagfs	p.Q72fs	ALDH1A1_uc011lsh.2_5'UTR	NM_000689	NP_000680	P00352	AL1A1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), mRNA.	72					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	Ras GTPase activator activity|aldehyde dehydrogenase (NAD) activity|androgen binding|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GATCCAATCTGAAAAGCCTGT	0.458													-	75545894	A	-	75545894	7	5	75	1	0	1	0	1	0	0	0	0	490	243	9	0	1336	0	ALDH1A1	9	75545894	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	2612352	75545894	65667537	627	52838											
C9orf41	138199	broad.mit.edu	37	chr9	77614759	77614759	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcctagtccagcaccaggTaccagaatatttactttaga	6	11	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:77614759T>C	uc004ajq.2	-	4	771	c.618A>G	c.(616-618)GTA>GTG	p.V206V	C9orf41_uc011lsi.1_Intron	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN	hypothetical protein LOC138199	206										ovary(1)|skin(1)	2						CAGCACCAGGTACCAGAATAT	0.378													C	77614759	T	C	77614759	2	2	75	1	0	0	0	0	0	0	0	1	2482	1625	57	3		3	C9orf41	9	77614759	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	2068865	77614759	63598672	628	52839											
FOXB2	442425	broad.mit.edu	37	chr9	79635218	79635218	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagccgtctcaccccggcaaGatgcaggaggcggcggccgt	15	15	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:79635218G>A	uc004ako.1	+	1	648	c.648G>A	c.(646-648)AAG>AAA	p.K216K		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	216					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						ACCCCGGCAAGATGCAGGAgg	0.527													A	79635218	G	A	79635218	2	1	75	1	0	0	0	0	0	0	0	1	5993	933	33	4		4	FOXB2	9	79635218	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2020459	79635218	61578213	629	52840											
GNA14	9630	broad.mit.edu	37	chr9	80262613	80262613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcttaagctcacggcGcgcgtccttcttgtcccgac	10	16	2	0	rs138686336	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:80262613G>A	uc004aku.2	-	1	620	c.97C>T	c.(97-99)CGC>TGC	p.R33C		NM_004297	NP_004288	O95837	GNA14_HUMAN	G alpha 14	33					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(2)	2						AGCTCACGGCGCGCGTCCTTC	0.662													A	80262613	G	A	80262613	3	1	75	1	0	0	0	0	1	0	0	0	6502	1087	38	1	998	1	GNA14	9	80262613	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	627395	80262613	60950818	630	52841											
TLE4	7091	broad.mit.edu	37	chr9	82322068	82322068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggaaattgagtgaaacaCgtcttagcgaagatgaacaa	12	5	1	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:82322068C>T	uc004ald.2	+	12	1795	c.946C>T	c.(946-948)CGT>TGT	p.R316C	TLE4_uc004alc.2_Intron|TLE4_uc010mpr.2_Intron|TLE4_uc004ale.2_Intron|TLE4_uc011lsq.1_Intron|TLE4_uc010mps.2_Intron|TLE4_uc004alf.2_Intron	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						GAGTGAAACACGTCTTAGCGA	0.373													T	82322068	C	T	82322068	3	4	75	1	0	0	0	0	1	0	0	0	15938	551	19	1		1	TLE4	9	82322068	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2059455	82322068	58891363	631	52842											
RMI1	80010	broad.mit.edu	37	chr9	86616917	86616917	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactaaggaattgcaaccatTgacttttaacagaaatgccg	7	8	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:86616917T>G	uc004anq.3	+	3	1424	c.1016T>G	c.(1015-1017)TTG>TGG	p.L339W	RMI1_uc004anr.3_Missense_Mutation_p.L339W|RMI1_uc004anp.3_Missense_Mutation_p.L339W|RMI1_uc004ans.3_Missense_Mutation_p.L339W	NM_024945	NP_079221	Q9H9A7	RMI1_HUMAN	RMI1, RecQ mediated genome instability 1,	339					DNA replication	nucleus					0						TTGCAACCATTGACTTTTAAC	0.348													G	86616917	T	G	86616917	3	3	75	1	0	0	0	0	1	0	0	0	13395	1821	63	5	1018	5	RMI1	9	86616917	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	4294849	86616917	54596514	632	52843											
GAS1	2619	broad.mit.edu	37	chr9	89560907	89560907	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtagtcctcatcgtagtagTcgtccaggcccccgtccgag	11	15	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:89560907T>C	uc004aox.3	-	1	1198	c.788A>G	c.(787-789)GAC>GGC	p.D263G	uc004aoy.2_5'Flank	NM_002048	NP_002039	P54826	GAS1_HUMAN	growth arrest-specific 1 precursor	263					cell cycle arrest|negative regulation of S phase of mitotic cell cycle	anchored to plasma membrane					0						ATCGTAGTAGTCGTCCAGGCC	0.721													C	89560907	T	C	89560907	3	2	75	1	0	0	0	0	1	0	0	0	6244	1667	58	3	253	3	GAS1	9	89560907	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	2943990	89560907	51652524	633	52844											
NXNL2	158046	broad.mit.edu	37	chr9	91150404	91150404	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cctgtaagggcgcgacggtgGaggccgaggcggcgctgcag	20	11	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:91150404G>T	uc011ltj.1	+	1	389	c.55G>T	c.(55-57)GAG>TAG	p.E19*	NXNL2_uc004aqa.2_Nonsense_Mutation_p.E19*	NM_001161625	NP_001155097	Q5VZ03	NXNL2_HUMAN	nucleoredoxin-like 2 isoform 1	19	Thioredoxin.										0						CGCGACGGTGGAGGCCGAGGC	0.682													T	91150404	G	T	91150404	4	4	75	1	0	0	0	0	0	1	0	0	10789	1175	41	5	57	5	NXNL2	9	91150404	Nonsense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1589497	91150404	50063027	634	52845											
IPPK	64768	broad.mit.edu	37	chr9	95420958	95420958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagaaaccgcagcacgacGcagcgctgttggaaaataaa	10	10	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:95420958G>A	uc004asl.1	-	2	364	c.87C>T	c.(85-87)TGC>TGT	p.C29C		NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	29					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			ovary(2)	2						GCAGCACGACGCAGCGCTGTT	0.433													A	95420958	G	A	95420958	2	1	75	1	0	0	0	0	0	0	0	1	7801	1079	38	1		1	IPPK	9	95420958	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	4270554	95420958	45792473	635	52846											
WNK2	65268	broad.mit.edu	37	chr9	95992120	95992120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtgcattgtgctggtgaCggagctgatgacctcaggga	17	8	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:95992120C>T	uc004ati.1	+	2	824	c.824C>T	c.(823-825)ACG>ATG	p.T275M	WNK2_uc011lud.1_Missense_Mutation_p.T275M|WNK2_uc004atj.2_Missense_Mutation_p.T275M|WNK2_uc010mrc.1_Missense_Mutation_p.T275M|WNK2_uc010mrd.1_5'Flank	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	275	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						GTGCTGGTGACGGAGCTGATG	0.622													T	95992120	C	T	95992120	3	4	75	1	0	0	0	0	1	0	0	0	17375	536	19	1	830	1	WNK2	9	95992120	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	571162	95992120	45221311	636	52847											
PTCH1	5727	broad.mit.edu	37	chr9	98209617	98209617	+	Frame_Shift_Del	DEL	G	G	-													ggtggccacaagccttctctGggggggtccctgcggggctg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:98209616_98209616TG>T	uc004avk.4	-	22	4110	c.3922_3922CA>A	c.(3922-3924)agafs	p.R1308fs	PTCH1_uc010mrn.3_Frame_Shift_Del_p.R100fs|PTCH1_uc010mro.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc010mrp.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc010mrq.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc004avl.4_Frame_Shift_Del_p.R1157fs|PTCH1_uc004avm.4_Frame_Shift_Del_p.R1307fs|PTCH1_uc010mrr.3_Frame_Shift_Del_p.R1242fs	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1308					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.R1308G(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAGCCTTCTCTGGGGGGGTCC	0.662													-	98209617	G	-	98209617	7	5	75	1	0	1	0	1	0	0	0	0	12730	1335	47	0	426	0	PTCH1	9	98209617	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	2217497	98209617	43003814	637	52848											
PTCH1	5727	broad.mit.edu	37	chr9	98268793	98268793	+	Frame_Shift_Del	DEL	T	T	-													caaccaagaacttgccgcagTttttttgaatgtaacaaccc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:98268792_98268792GT>G	uc004avk.4	-	1	479	c.291_291AC>C	c.(289-291)aacfs	p.N97fs	PTCH1_uc010mro.3_5'UTR|PTCH1_uc010mrp.3_5'UTR|PTCH1_uc010mrq.3_5'UTR|PTCH1_uc004avl.4_5'UTR|PTCH1_uc004avm.4_Frame_Shift_Del_p.N96fs|PTCH1_uc010mrr.3_Frame_Shift_Del_p.N31fs|PTCH1_uc010mrt.1_Non-coding_Transcript|PTCH1_uc010mru.1_Non-coding_Transcript|PTCH1_uc004avo.2_Frame_Shift_Del_p.N31fs|PTCH1_uc010mrv.1_Intron|PTCH1_uc010mrw.1_Intron	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	97					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.C98fs*42(2)|p.N97fs*43(2)|p.K96*(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACTTGCCGCAGTTTTTTTGAA	0.537													-	98268793	T	-	98268793	7	5	75	1	0	1	0	1	0	0	0	0	12730	1725	60	0	4141	0	PTCH1	9	98268793	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	59176	98268793	42944638	638	52849											
ALG2	85365	broad.mit.edu	37	chr9	101980272	101980272	+	Frame_Shift_Del	DEL	A	A	-													ttctgtaaatgcttcaggggAaaatttttccttcactctgg					rs140491089		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:101980271_101980271GA>G	uc004azf.3	-	1	1266	c.1196_1196TC>C	c.(1195-1197)tccfs	p.S399fs	ALG2_uc004azg.3_Frame_Shift_Del_p.S306fs	NM_033087	NP_149078	Q9H553	ALG2_HUMAN	Homo sapiens asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae) (ALG2), transcript variant 1, mRNA.	399					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in endoplasmic reticulum|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein N-terminus binding|protein anchor|protein heterodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				TGCTTCAGGGGAAAATTTTTC	0.413													-	101980272	A	-	101980272	7	5	75	1	0	1	0	1	0	0	0	0	519	246	9	0	59	0	ALG2	9	101980272	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	3711479	101980272	39233159	639	52850											
NR4A3	8013	broad.mit.edu	37	chr9	102590786	102590786	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccccccgcaggcgggggcGttatgggacgaggcactgcc	16	14	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:102590786G>A	uc004baf.1	+	3	1191	c.462G>A	c.(460-462)GCG>GCA	p.A154A	NR4A3_uc004bae.2_Silent_p.A154A|NR4A3_uc004bag.1_Silent_p.A154A|NR4A3_uc004bai.2_Silent_p.A165A	NM_006981	NP_008912	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	154					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		EWSR1/NR4A3(140)|TAF15/NR4A3(33)	bone(173)	173		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AGGCGGGGGCGTTATGGGACG	0.746			T	EWSR1	extraskeletal myxoid chondrosarcoma								A	102590786	G	A	102590786	2	1	75	1	0	0	0	0	0	0	0	1	10634	1132	40	1		1	NR4A3	9	102590786	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	610514	102590786	38622645	640	52851											
ABCA1	19	broad.mit.edu	37	chr9	107548643	107548643	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgaccatgattgccatccTagtgcaaagagcttcacatt	7	10	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:107548643T>C	uc004bcl.2	-	48	6650	c.6337A>G	c.(6337-6339)AGG>GGG	p.R2113G	NIPSNAP3B_uc004bcj.1_RNA	NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	2113	ABC transporter 2.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATTGCCATCCTAGTGCAAAGA	0.388													C	107548643	T	C	107548643	3	2	75	1	0	0	0	0	1	0	0	0	28	1521	53	3	460	3	ABCA1	9	107548643	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	4957857	107548643	33664788	641	52852											
FKTN	2218	broad.mit.edu	37	chr9	108397398	108397398	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaaggtccatgtaccctgTgaaaccctcgaatacattga	8	10	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:108397398T>C	uc004bcr.2	+	11	1455	c.1239T>C	c.(1237-1239)TGT>TGC	p.C413C	FKTN_uc011lvx.1_Silent_p.C413C|FKTN_uc004bcs.2_Silent_p.C413C|FKTN_uc011lvy.1_3'UTR|FKTN_uc010mtm.2_Silent_p.C281C	NM_001079802	NP_001073270	O75072	FKTN_HUMAN	fukutin	413	Lumenal (Potential).				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(2)|ovary(1)	3						ATGTACCCTGTGAAACCCTCG	0.473													C	108397398	T	C	108397398	2	2	75	1	0	0	0	0	0	0	0	1	5919	1702	59	3		3	FKTN	9	108397398	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	848755	108397398	32816033	642	52853											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112918719	112918719	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagaatctgatgcagacccTcatggaagactatgagacac	9	10	2	5			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:112918719T>G	uc004bej.3	+	9	3296	c.3116T>G	c.(3115-3117)CTC>CGC	p.L1039R	PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.L1039R|AKAP2_uc011lwi.1_Missense_Mutation_p.L897R|AKAP2_uc004bem.2_Missense_Mutation_p.L897R|AKAP2_uc011lwj.1_Missense_Mutation_p.L808R|PALM2-AKAP2_uc004ben.2_Intron	NM_007203	NP_009134	Q9Y2D5	AKAP2_HUMAN	PALM2-AKAP2 protein isoform 1	808							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						ATGCAGACCCTCATGGAAGAC	0.537													G	112918719	T	G	112918719	3	3	75	1	0	0	0	0	1	0	0	0	11410	1551	54	5	3150	5	PALM2-AKAP2	9	112918719	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	4521321	112918719	28294712	643	52854											
TNC	3371	broad.mit.edu	37	chr9	117848521	117848521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggggcattggcgatcccGgcagtcttcccctgtgtagc	13	14	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:117848521G>A	uc004bjj.3	-	3	1851	c.1489C>T	c.(1489-1491)CGG>TGG	p.R497W	TNC_uc010mvf.2_Missense_Mutation_p.R497W	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	497	EGF-like 11.|EGF-like 12.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						TGGCGATCCCGGCAGTCTTCC	0.597													A	117848521	G	A	117848521	3	1	75	1	0	0	0	0	1	0	0	0	16267	1115	39	1	5220	1	TNC	9	117848521	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	4929802	117848521	23364910	644	52855											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123234112	123234112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcctgctccagttgcttcCgcagggcaaaaatcttgttt	8	12	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:123234112C>T	uc004bkf.2	-	16	1953	c.1772G>A	c.(1771-1773)CGG>CAG	p.R591Q	CDK5RAP2_uc004bke.2_5'UTR|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.R591Q|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.R591Q|CDK5RAP2_uc004bki.2_Missense_Mutation_p.R390Q	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	591					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						cagttgcttccgcagggcaaa	0.234													T	123234112	C	T	123234112	3	4	75	1	0	0	0	0	1	0	0	0	3146	652	23	1	4001	1	CDK5RAP2	9	123234112	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	5385591	123234112	17979319	645	52856											
PTGS1	5742	broad.mit.edu	37	chr9	125154645	125154645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaatcccatctgttctcCggagtactggaagccgagca	12	11	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:125154645C>T	uc004bmg.1	+	11	1757	c.1622C>T	c.(1621-1623)CCG>CTG	p.P541L	PTGS1_uc011lys.1_Missense_Mutation_p.P479L|PTGS1_uc010mwb.1_Missense_Mutation_p.P395L|PTGS1_uc004bmf.1_Missense_Mutation_p.P504L|PTGS1_uc004bmh.1_Missense_Mutation_p.P432L|PTGS1_uc011lyt.1_Missense_Mutation_p.P432L	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	541					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|skin(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	ATCTGTTCTCCGGAGTACTGG	0.517													T	125154645	C	T	125154645	3	4	75	1	0	0	0	0	1	0	0	0	12755	652	23	1	1664	1	PTGS1	9	125154645	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1920533	125154645	16058786	646	52857											
NR6A1	2649	broad.mit.edu	37	chr9	127316774	127316774	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccctcacaggagatgatcCcatagtgcaagcctgtagcg	11	12	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:127316774C>A	uc004bor.1	-	3	396	c.218G>T	c.(217-219)GGG>GTG	p.G73V	NR6A1_uc004boq.1_Missense_Mutation_p.G69V|NR6A1_uc010mwq.1_Missense_Mutation_p.G69V	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	73	Nuclear receptor.|NR C4-type.				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						GGAGATGATCCCATAGTGCAA	0.483													A	127316774	C	A	127316774	3	1	75	1	0	0	0	0	1	0	0	0	10637	623	22	5	1256	5	NR6A1	9	127316774	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2162129	127316774	13896657	647	52858											
LMX1B	4010	broad.mit.edu	37	chr9	129377676	129377676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacaggctccgactgcccgCatcccgccgtctgcgagggc	12	18	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:129377676C>T	uc004bqj.2	+	2	135	c.85C>T	c.(85-87)CAT>TAT	p.H29Y	LMX1B_uc004bqi.2_Missense_Mutation_p.H29Y|LMX1B_uc011maa.1_Missense_Mutation_p.H29Y	NM_002316	NP_002307	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	29					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CGACTGCCCGCATCCCGCCGT	0.736									Nail-Patella_Syndrome				T	129377676	C	T	129377676	3	4	75	1	0	0	0	0	1	0	0	0	8862	710	25	2	160	2	LMX1B	9	129377676	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2060902	129377676	11835755	648	52859											
LMX1B	4010	broad.mit.edu	37	chr9	129377811	129377811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccaccagctgctacttcCgggatcggaaactgtactgc	9	14	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:129377811C>T	uc004bqj.2	+	2	270	c.220C>T	c.(220-222)CGG>TGG	p.R74W	LMX1B_uc004bqi.2_Missense_Mutation_p.R74W|LMX1B_uc011maa.1_Missense_Mutation_p.R74W	NM_002316	NP_002307	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	74	LIM zinc-binding 1.				dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CTGCTACTTCCGGGATCGGAA	0.617									Nail-Patella_Syndrome				T	129377811	C	T	129377811	3	4	75	1	0	0	0	0	1	0	0	0	8862	643	23	1	295	1	LMX1B	9	129377811	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	135	129377811	11835620	649	52860											
ANGPTL2	23452	broad.mit.edu	37	chr9	129851253	129851253	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggttcggtcggatcatcaTcaccactttcttgagtgagt	12	9	4	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:129851253T>C	uc004bqr.1	-	5	1947	c.1447A>G	c.(1447-1449)ATG>GTG	p.M483V	RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_Missense_Mutation_p.M181V	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2 precursor	483	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding				0						CGGATCATCATCACCACTTTC	0.622													C	129851253	T	C	129851253	3	2	75	1	0	0	0	0	1	0	0	0	614	1435	50	3	38	3	ANGPTL2	9	129851253	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	473442	129851253	11362178	650	52861											
GOLGA2	2801	broad.mit.edu	37	chr9	131019435	131019435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaagcctgggcgctcccGggggttctgcatctcacgaa	13	15	2	0	rs141666208		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:131019435G>A	uc011maw.1	-	26	2933	c.2920C>T	c.(2920-2922)CGG>TGG	p.R974W	GOLGA2_uc010mxw.2_Missense_Mutation_p.R297W|GOLGA2_uc004buh.2_Missense_Mutation_p.R324W	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	974						Golgi cisterna membrane	protein binding			ovary(1)	1						GGGCGCTCCCGGGGGTTCTGC	0.582													A	131019435	G	A	131019435	3	1	75	1	0	0	0	0	1	0	0	0	6552	1115	39	1	92	1	GOLGA2	9	131019435	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1168182	131019435	10193996	651	52862											
GOLGA2	2801	broad.mit.edu	37	chr9	131020362	131020362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctcaggctccttctggGccgaggccagcaggtgagcc	14	15	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:131020362G>A	uc011maw.1	-	22	2337	c.2324C>T	c.(2323-2325)GCC>GTC	p.A775V	GOLGA2_uc010mxw.2_Missense_Mutation_p.A98V|GOLGA2_uc004buh.2_Missense_Mutation_p.A248V	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	775	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						CTCCTTCTGGGCCGAGGCCAG	0.692													A	131020362	G	A	131020362	3	1	75	1	0	0	0	0	1	0	0	0	6552	1203	42	2	704	2	GOLGA2	9	131020362	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	927	131020362	10193069	652	52863											
PKN3	29941	broad.mit.edu	37	chr9	131477648	131477648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacctctctctggccccagGtcctcctggtccagttcaag	8	17	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:131477648G>A	uc004bvw.2	+	15	2110	c.1717G>A	c.(1717-1719)GTC>ATC	p.V573I	PKN3_uc010myh.2_Missense_Mutation_p.V573I|PKN3_uc011mbk.1_Missense_Mutation_p.V123I	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	protein kinase PKNbeta	573	ATP (By similarity).|Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			stomach(2)|lung(2)	4						CTGGCCCCAGGTCCTCCTGGT	0.607													A	131477648	G	A	131477648	3	1	75	1	0	0	0	0	1	0	0	0	11981	1275	44	4	1775	4	PKN3	9	131477648	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	457286	131477648	9735783	653	52864											
DOLK	22845	broad.mit.edu	37	chr9	131708405	131708405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcgttcatccagaaaaaggGacaggaagctccgtagagtg	12	9	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:131708405G>A	uc004bwr.2	-	1	1608	c.1178C>T	c.(1177-1179)TCC>TTC	p.S393F	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	dolichol kinase	393	Cytoplasmic (Potential).				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity				0						CAGAAAAAGGGACAGGAAGCT	0.542													A	131708405	G	A	131708405	3	1	75	1	0	0	0	0	1	0	0	0	4703	1174	41	4	442	4	DOLK	9	131708405	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	230757	131708405	9505026	654	52865											
CRAT	1384	broad.mit.edu	37	chr9	131857690	131857690	+	Frame_Shift_Del	DEL	G	G	-													aggggctcagagcttggcccGggggtggctctgcagcaggg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:131857689_131857689CG>C	uc004bxh.3	-	13	2150	c.1868_1868CG>G	c.(1867-1869)cggfs	p.R623fs	CRAT_uc004bxk.4_Frame_Shift_Del_p.R602fs	NM_000755	NP_000746	P43155	CACP_HUMAN	Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	623					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GAGCTTGGCCCGGGGGTGGCT	0.677													-	131857690	G	-	131857690	7	5	75	1	0	1	0	1	0	0	0	0	3847	1115	39	0	17	0	CRAT	9	131857690	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	149285	131857690	9355741	655	52866											
IER5L	389792	broad.mit.edu	37	chr9	131939119	131939119	+	Nonstop_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgccctcgggggtccctAgaaggcgacaatggctcgag	15	12	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:131939119A>T	uc010myt.1	-	1	1422	c.1213T>A	c.(1213-1215)TAG>AAG	p.*405K		NM_203434	NP_982258	Q5T953	IER5L_HUMAN	immediate early response 5-like	405											0		Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		GGGGGTCCCTAGAAGGCGACA	0.746													T	131939119	A	T	131939119	4	4	75	1	0	0	0	0	0	0	0	0	7509	433	15	5	5	5	IER5L	9	131939119	Nonstop_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	81429	131939119	9274312	656	52867											
PRRX2	51450	broad.mit.edu	37	chr9	132484621	132484621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccacagccaggtgcctaCggtgaactgaagtccagtcc	11	14	0	2	rs143523637		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:132484621C>T	uc004byh.2	+	4	979	c.752C>T	c.(751-753)ACG>ATG	p.T251M		NM_016307	NP_057391	Q99811	PRRX2_HUMAN	paired related homeobox 2	251						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1		Ovarian(14;0.00556)				CAGGTGCCTACGGTGAACTGA	0.622													T	132484621	C	T	132484621	3	4	75	1	0	0	0	0	1	0	0	0	12613	536	19	1	766	1	PRRX2	9	132484621	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	545502	132484621	8728810	657	52868											
QRFP	347148	broad.mit.edu	37	chr9	133769184	133769184	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagggaagcaggcgcccagCggcaggaagaggaagtagat	18	7	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:133769184C>T	uc011mcb.1	-	1	42	c.42G>A	c.(40-42)CCG>CCA	p.P14P		NM_198180	NP_937823	P83859	OX26_HUMAN	RF(Arg-Phe)amide family 26 amino acid peptide	14					locomotory behavior|neuropeptide signaling pathway|positive regulation of blood pressure|regulation of feeding behavior	extracellular region	neuropeptide hormone activity|orexigenic neuropeptide QRFP receptor binding				0	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)		AGGCGCCCAGCGGCAGGAAGA	0.632													T	133769184	C	T	133769184	2	4	75	1	0	0	0	0	0	0	0	1	12877	755	27	1		1	QRFP	9	133769184	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1284563	133769184	7444247	658	52869											
C9orf96	169436	broad.mit.edu	37	chr9	136268936	136268936	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccagctgcggagtcttctgGctgctgtccctgctgggtga	15	12	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:136268936G>T	uc004cdk.2	+	15	1648	c.1587G>T	c.(1585-1587)TGG>TGT	p.W529C	C9orf96_uc004cdl.2_RNA	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	529							ATP binding|protein kinase activity			stomach(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GAGTCTTCTGGCTGCTGTCCC	0.682													T	136268936	G	T	136268936	3	4	75	1	0	0	0	0	1	0	0	0	2508	1212	42	5	1645	5	C9orf96	9	136268936	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2499752	136268936	4944495	659	52870											
ADAMTS13	11093	broad.mit.edu	37	chr9	136321236	136321236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaacaggaaccattgacaTgcgaggcccagggcaggcag	14	12	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:136321236T>C	uc004cdv.3	+	26	4058	c.3614T>C	c.(3613-3615)ATG>ACG	p.M1205T	ADAMTS13_uc004cdp.3_Missense_Mutation_p.M376T|ADAMTS13_uc004cdt.1_Missense_Mutation_p.M1149T|ADAMTS13_uc004cdu.1_Missense_Mutation_p.M1118T|ADAMTS13_uc004cdw.3_Missense_Mutation_p.M1149T|ADAMTS13_uc004cdx.3_Missense_Mutation_p.M1118T|ADAMTS13_uc004cdz.3_Missense_Mutation_p.M875T|ADAMTS13_uc004cea.1_Missense_Mutation_p.M1T|ADAMTS13_uc004ceb.3_Missense_Mutation_p.M1T	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1205	CUB 1.				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)		ACCATTGACATGCGAGGCCCA	0.627													C	136321236	T	C	136321236	3	2	75	1	0	0	0	0	1	0	0	0	258	1464	51	3	3716	3	ADAMTS13	9	136321236	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	52300	136321236	4892195	660	52871											
COL5A1	1289	broad.mit.edu	37	chr9	137676834	137676834	+	Splice_Site	DEL	G	G	-													ctcctcttttctggcttgcaGggggagatcggcccacccgg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:137676833_137676833AG>A	uc004cfe.3	+	30	2867	c.2485_splice	c.e30-2	p.G829_splice		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	829	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCTGGCTTGCAGGGGGAGATC	0.632													-	137676834	G	-	137676834	8	5	75	1	0	1	0	1	0	0	1	0	3696	1014	35	0	2602	0	COL5A1	9	137676834	Splice_Site	DEL	G	TCGA-BR-8363-01A-11D-2340-08	1355598	137676834	3536597	661	52872											
KCNT1	57582	broad.mit.edu	37	chr9	138657549	138657549	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagatccctctgtggtcccAgcgggtcatctacctccagg	11	15	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:138657549A>G	uc011mdq.1	+	13	1354	c.1280A>G	c.(1279-1281)CAG>CGG	p.Q427R	KCNT1_uc011mdr.1_Missense_Mutation_p.Q254R|KCNT1_uc010nbf.2_Missense_Mutation_p.Q382R|KCNT1_uc004cgo.1_Missense_Mutation_p.Q176R	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	427						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTGTGGTCCCAGCGGGTCATC	0.642													G	138657549	A	G	138657549	3	3	75	1	0	0	0	0	1	0	0	0	8091	188	7	3	1330	3	KCNT1	9	138657549	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	980715	138657549	2555882	662	52873											
SEC16A	9919	broad.mit.edu	37	chr9	139354227	139354227	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccagagtgtcgcccatggTagccatcgtcctggactcga	11	14	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:139354227T>C	uc004chx.2	-	15	5482	c.5173A>G	c.(5173-5175)ACC>GCC	p.T1725A	SEC16A_uc004chu.2_5'Flank|SEC16A_uc004chv.3_Missense_Mutation_p.T1115A|SEC16A_uc004chw.2_Missense_Mutation_p.T1725A|SEC16A_uc010nbn.2_Missense_Mutation_p.T1725A	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1547					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCGCCCATGGTAGCCATCGTC	0.592													C	139354227	T	C	139354227	3	2	75	1	0	0	0	0	1	0	0	0	13986	1638	57	3	1972	3	SEC16A	9	139354227	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	696678	139354227	1859204	663	52874											
SEC16A	9919	broad.mit.edu	37	chr9	139361486	139361486	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacctccggtcataggtgcgGgggtccctgactctagcact	12	13	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:139361486G>T	uc004chx.2	-	6	4161	c.3852C>A	c.(3850-3852)CCC>CCA	p.P1284P	SEC16A_uc004chv.3_Silent_p.P674P|SEC16A_uc004chw.2_Silent_p.P1284P|SEC16A_uc010nbn.2_Silent_p.P1284P	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1106	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CATAGGTGCGGGGGTCCCTGA	0.512													T	139361486	G	T	139361486	2	4	75	1	0	0	0	0	0	0	0	1	13986	1219	43	5		5	SEC16A	9	139361486	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	7259	139361486	1851945	664	52875											
NDOR1	27158	broad.mit.edu	37	chr9	140108803	140108803	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctccaaccagagagtcacCggcccctcccacttccagga	7	18	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:140108803C>T	uc004clw.2	+	6	771	c.660C>T	c.(658-660)ACC>ACT	p.T220T	NDOR1_uc004clx.2_Silent_p.T220T|NDOR1_uc011mes.1_Silent_p.T220T|NDOR1_uc004cly.2_Silent_p.T186T	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	220	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AGAGAGTCACCGGCCCCTCCC	0.637													T	140108803	C	T	140108803	2	4	75	1	0	0	0	0	0	0	0	1	10249	639	23	1		1	NDOR1	9	140108803	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	747317	140108803	1104628	665	52876											
RNF208	727800	broad.mit.edu	37	chr9	140115423	140115424	+	Frame_Shift_Ins	INS	-	-	C													cccttccaaggcaggcatgtINScccccccacaggcctggttg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:140115423_140115424insC	uc004clz.1	-	1	352_353	c.241_242insG	c.(241-243)GACfs	p.D81fs		NM_031297	NP_112587	Q9H0X6	RN208_HUMAN	ring finger protein 208	81							zinc ion binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGCAGGCATGTCCCCCCCACAG	0.688													C	140115424	-	C	140115423	7	5	75	1	0	1	1	0	0	0	0	0	13475	1667	58	0	547	0	RNF208	9	140115423	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	6620	140115423	1098008	666	52877											
PNPLA7	375775	broad.mit.edu	37	chr9	140379084	140379084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccagggcgaaggcggtgaGgggcacttcctctgacacgg	16	12	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:140379084G>T	uc004cnf.2	-	20	2564	c.2227C>A	c.(2227-2229)CTC>ATC	p.L743I	C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Missense_Mutation_p.L9I|PNPLA7_uc004cne.1_Missense_Mutation_p.L9I|PNPLA7_uc011mfa.1_Missense_Mutation_p.L151I|PNPLA7_uc010ncj.1_Missense_Mutation_p.L768I	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	743					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AAGGCGGTGAGGGGCACTTCC	0.667													T	140379084	G	T	140379084	3	4	75	1	0	0	0	0	1	0	0	0	12170	1000	35	5	1786	5	PNPLA7	9	140379084	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	263661	140379084	834347	667	52878											
GATA3	2625	broad.mit.edu	37	chr10	8115780	8115780	+	Frame_Shift_Del	DEL	A	A	-													ctagcaaatccaaaaagtgcAaaaaagtgcatgactcactg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:8115779_8115779CA>C	uc001ijz.3	+	5	1685	c.1128_1128CA>C	c.(1126-1128)tgcfs	p.C376fs	GATA3_uc001ika.3_Frame_Shift_Del_p.C375fs	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	375					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCAAAAAGTGCAAAAAAGTGC	0.463			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						-	8115780	A	-	8115780	7	5	75	1	0	1	0	1	0	0	0	0	6255	131	5	0	1147	0	GATA3	10	8115780	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08		8115780	127418967	668	52879											
UCMA	221044	broad.mit.edu	37	chr10	13276240	13276240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaagcaagacagcaggaCggcctgtctccaagtcatct	12	11	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:13276240C>T	uc001imd.2	-	1	92	c.19G>A	c.(19-21)GTC>ATC	p.V7I		NM_145314	NP_660357	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix	7						proteinaceous extracellular matrix					0						GACAGCAGGACGGCCTGTCTC	0.582													T	13276240	C	T	13276240	3	4	75	1	0	0	0	0	1	0	0	0	16923	536	19	1	417	1	UCMA	10	13276240	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	5160460	13276240	122258507	669	52880											
MLLT10	8028	broad.mit.edu	37	chr10	21962452	21962452	+	Frame_Shift_Del	DEL	G	G	-													gagagtctggaagccaggaaGggggggtaaatagttttagt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:21962451_21962451AG>A	uc021pny.1	+	9	1224	c.1224_1224AG>A	c.(1222-1224)gaafs	p.E408fs	MLLT10_uc001iqs.3_Frame_Shift_Del_p.E408fs|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc001iqt.3_Frame_Shift_Del_p.E408fs|MLLT10_uc001ira.3_Intron|MLLT10_uc001irb.3_5'Flank	NM_001195626	NP_001182555	P55197	AF10_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.	408	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V411fs*3(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGCCAGGAAGGGGGGGTAA	0.438			T	"MLL, PICALM, CDK6"	AL								-	21962452	G	-	21962452	7	5	75	1	0	1	0	1	0	0	0	0	9626	1000	35	0	1263	0	MLLT10	10	21962452	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	8686212	21962452	113572295	670	52881											
KIAA1217	56243	broad.mit.edu	37	chr10	24833185	24833185	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgaaattagaaaaaacacCtacagaacattggatagcct	7	7	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:24833185C>A	uc001iru.3	+	19	5389	c.4986C>A	c.(4984-4986)ACC>ACA	p.T1662T	KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Silent_p.T1345T|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Silent_p.T498T	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1662	Potential.				embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						GAAAAAACACCTACAGAACAT	0.438													A	24833185	C	A	24833185	2	1	75	1	0	0	0	0	0	0	0	1	8216	668	24	5		5	KIAA1217	10	24833185	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2870733	24833185	110701562	671	52882											
MASTL	84930	broad.mit.edu	37	chr10	27459056	27459056	+	Frame_Shift_Del	DEL	A	A	-													gctcttgtgtaaaccttgctAaaaaatgcttctctggggaa							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:27459055_27459055TA>T	uc001itm.3	+	7	1770	c.1167_1167TA>T	c.(1165-1167)gctfs	p.A389fs	MASTL_uc001itl.3_Frame_Shift_Del_p.A389fs|MASTL_uc009xkw.2_Frame_Shift_Del_p.A389fs|MASTL_uc009xkx.2_Non-coding_Transcript	NM_001172303	NP_001165774	Q96GX5	GWL_HUMAN	Homo sapiens microtubule associated serine/threonine kinase-like (MASTL), transcript variant 1, mRNA.	389	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity	p.C392fs*17(2)		breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TAAACCTTGCTAAAAAATGCT	0.413													-	27459056	A	-	27459056	7	5	75	1	0	1	0	1	0	0	0	0	9328	363	13	0	1198	0	MASTL	10	27459056	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	2625871	27459056	108075691	672	52883											
SVIL	6840	broad.mit.edu	37	chr10	29821971	29821973	+	In_Frame_Del	DEL	TCT	TCT	-													gagcttcagtgaagcacacaTcttcttctttttcttctcct							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:29821970_29821972ATCT>A	uc001iut.1	-	7	2077_2079	c.1324_1326AGAT>T	c.(1324-1326)gat>T	p.D442del	SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_In_Frame_Del_p.D442del	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	442					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGAAGCACACAtcttcttctttt	0.488													-	29821973	TCT	-	29821971	7	5	75	1	0	1	0	1	0	0	0	0	15418	1435	50	0	5443	0	SVIL	10	29821971	In_Frame_Del	DEL	TCT	TCGA-BR-8363-01A-11D-2340-08	2362915	29821971	105712776	673	52884											
LYZL2	119180	broad.mit.edu	37	chr10	30900913	30900913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcacagtcttttttccagtCggacaggtctctcccctcac	6	16	4	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:30900913C>T	uc001ivk.2	-	5	569	c.556G>A	c.(556-558)GAC>AAC	p.D186N		NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	140					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0		Prostate(175;0.151)				TTTTTCCAGTCGGACAGGTCT	0.522													T	30900913	C	T	30900913	3	4	75	1	0	0	0	0	1	0	0	0	9132	884	31	1	32	1	LYZL2	10	30900913	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1078942	30900913	104633834	674	52885											
ARHGAP12	94134	broad.mit.edu	37	chr10	32150382	32150382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttgcatcccgagtccaacGaggaggtttccaagttcttt	10	11	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:32150382G>A	uc001ivz.1	-	4	1159	c.889C>T	c.(889-891)CGT>TGT	p.R297C	ARHGAP12_uc001ivy.1_Missense_Mutation_p.R295C|ARHGAP12_uc009xls.2_Missense_Mutation_p.R295C|ARHGAP12_uc001iwb.1_Missense_Mutation_p.R295C|ARHGAP12_uc001iwc.1_Missense_Mutation_p.R295C|ARHGAP12_uc009xlq.1_Missense_Mutation_p.R295C|ARHGAP12_uc001iwd.1_Missense_Mutation_p.R295C|ARHGAP12_uc009xlr.1_Missense_Mutation_p.R295C	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	297	WW 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		Prostate(175;0.0199)				CGAGTCCAACGAGGAGGTTTC	0.428													A	32150382	G	A	32150382	3	1	75	1	0	0	0	0	1	0	0	0	865	1058	37	1	1719	1	ARHGAP12	10	32150382	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1249469	32150382	103384365	675	52886											
KIF5B	3799	broad.mit.edu	37	chr10	32329381	32329381	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttccattatatccttcaagTacatctatgagaaaagattt	5	7	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:32329381T>C	uc001iwe.3	-	3	689	c.219A>G	c.(217-219)GTA>GTG	p.V73V		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	73	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)				ATCCTTCAAGTACATCTATGA	0.348													C	32329381	T	C	32329381	2	2	75	1	0	0	0	0	0	0	0	1	8306	1625	57	3		3	KIF5B	10	32329381	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	178999	32329381	103205366	676	52887											
C10orf68	79741	broad.mit.edu	37	chr10	33094009	33094009	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgatgaattcaagacacAgtcaaagagtttccctggta	8	7	2	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:33094009A>G	uc001iwn.3	+	11	1366	c.893A>G	c.(892-894)CAG>CGG	p.Q298R	C10orf68_uc001iwl.1_Intron|C10orf68_uc001iwm.1_Missense_Mutation_p.Q274R|C10orf68_uc010qei.1_Missense_Mutation_p.Q246R|C10orf68_uc001iwo.3_RNA	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	298										skin(2)|ovary(1)	3						TTCAAGACACAGTCAAAGAGT	0.313													G	33094009	A	G	33094009	3	3	75	1	0	0	0	0	1	0	0	0	1613	188	7	3	927	3	C10orf68	10	33094009	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	764628	33094009	102440738	677	52888											
ITGB1	3688	broad.mit.edu	37	chr10	33208930	33208930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaataacctctacttcctccGtaaagcccagaggcctaatt	6	13	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:33208930G>A	uc001iws.3	-	11	1488	c.1352C>T	c.(1351-1353)ACG>ATG	p.T451M	ITGB1_uc001iwp.3_Missense_Mutation_p.T451M|ITGB1_uc001iwq.3_Missense_Mutation_p.T451M|ITGB1_uc001iwr.3_Missense_Mutation_p.T451M|ITGB1_uc001iwt.3_Missense_Mutation_p.T451M|ITGB1_uc001iwu.1_Missense_Mutation_p.T451M	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	451	Extracellular (Potential).				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TACTTCCTCCGTAAAGCCCAG	0.388													A	33208930	G	A	33208930	3	1	75	1	0	0	0	0	1	0	0	0	7890	1145	40	1	1306	1	ITGB1	10	33208930	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	114921	33208930	102325817	678	52889											
ZNF33B	7582	broad.mit.edu	37	chr10	43088290	43088290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgagtgatgatttgtgaCtgaaggatttcccacattca	10	7	1	5			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:43088290C>T	uc001jaf.1	-	5	2223	c.2108G>A	c.(2107-2109)AGT>AAT	p.S703N	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.S591N|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	703	C2H2-type 14.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TGATTTGTGACTGAAGGATTT	0.403													T	43088290	C	T	43088290	3	4	75	1	0	0	0	0	1	0	0	0	17852	565	20	4	232	4	ZNF33B	10	43088290	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	9879360	43088290	92446457	679	52890											
ZNF33B	7582	broad.mit.edu	37	chr10	43089580	43089580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcactaaattcatagtgaCtgtcctttgatggaggtatc	8	7	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:43089580C>T	uc001jaf.1	-	5	933	c.818G>A	c.(817-819)AGT>AAT	p.S273N	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.S161N|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	273						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TTCATAGTGACTGTCCTTTGA	0.388													T	43089580	C	T	43089580	3	4	75	1	0	0	0	0	1	0	0	0	17852	565	20	4	1522	4	ZNF33B	10	43089580	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1290	43089580	92445167	680	52891											
C10orf10	11067	broad.mit.edu	37	chr10	45472929	45472929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggaggccatggcttgggCagactgcccaaaagtccagc	15	12	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:45472929C>T	uc001jbr.3	-	2	840	c.550G>A	c.(550-552)GCC>ACC	p.A184T	RASSF4_uc001jbo.2_Intron|RASSF4_uc001jbp.2_Intron|RASSF4_uc009xmn.2_Intron|RASSF4_uc001jbq.2_Intron	NM_007021	NP_008952	Q9NTK1	DEPP_HUMAN	fasting-induced protein	184						mitochondrion					0						ATGGCTTGGGCAGACTGCCCA	0.632													T	45472929	C	T	45472929	3	4	75	1	0	0	0	0	1	0	0	0	1580	710	25	2	92	2	C10orf10	10	45472929	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2383349	45472929	90061818	681	52892											
GDF2	2658	broad.mit.edu	37	chr10	48414152	48414152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggacactgatgtccagcGtgtcgcagcccttcctgtgg	15	12	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:48414152G>A	uc001jfa.1	-	2	879	c.716C>T	c.(715-717)ACG>ATG	p.T239M		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	239					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3						GATGTCCAGCGTGTCGCAGCC	0.582													A	48414152	G	A	48414152	3	1	75	1	0	0	0	0	1	0	0	0	6314	1145	40	1	577	1	GDF2	10	48414152	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2941223	48414152	87120595	682	52893											
PCDH15	65217	broad.mit.edu	37	chr10	55996585	55996585	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgttatcagatacaaaccaAcaaggatggaatagaggatt	9	5	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:55996585A>T	uc001jju.1	-	9	1378	c.983T>A	c.(982-984)GTT>GAT	p.V328D	PCDH15_uc010qhq.1_Missense_Mutation_p.V333D|PCDH15_uc010qhr.1_Missense_Mutation_p.V328D|PCDH15_uc010qhs.1_Missense_Mutation_p.V333D|PCDH15_uc010qht.1_Missense_Mutation_p.V328D|PCDH15_uc010qhu.1_Missense_Mutation_p.V328D|PCDH15_uc001jjv.1_Missense_Mutation_p.V306D|PCDH15_uc010qhv.1_Missense_Mutation_p.V328D|PCDH15_uc010qhw.1_Missense_Mutation_p.V291D|PCDH15_uc010qhx.1_Missense_Mutation_p.V328D|PCDH15_uc010qhy.1_Missense_Mutation_p.V333D|PCDH15_uc010qhz.1_Missense_Mutation_p.V328D|PCDH15_uc010qia.1_Missense_Mutation_p.V306D|PCDH15_uc010qib.1_Missense_Mutation_p.V306D|PCDH15_uc001jjw.2_Missense_Mutation_p.V328D	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	328	Cadherin 3.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				ATACAAACCAACAAGGATGGA	0.363										HNSCC(58;0.16)			T	55996585	A	T	55996585	3	4	75	1	0	0	0	0	1	0	0	0	11511	43	2	5	6628	5	PCDH15	10	55996585	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	7582433	55996585	79538162	683	52894											
ZWINT	11130	broad.mit.edu	37	chr10	58118436	58118436	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcctcagcctcagggaAcaacagcttaccctgcaggg	10	15	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:58118436A>T	uc001jjx.1	-	7	710	c.673T>A	c.(673-675)TTC>ATC	p.F225I	ZWINT_uc001jjy.1_Missense_Mutation_p.F178I|ZWINT_uc001jka.1_Missense_Mutation_p.F225I|ZWINT_uc009xoy.1_RNA	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	225					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						GCCTCAGGGAACAACAGCTTA	0.522													T	58118436	A	T	58118436	3	4	75	1	0	0	0	0	1	0	0	0	18246	43	2	5	168	5	ZWINT	10	58118436	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	2121851	58118436	77416311	684	52895											
ZWINT	11130	broad.mit.edu	37	chr10	58118660	58118660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgagtccctgtcttacGctccctcacctctgcagaaa	7	16	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:58118660G>A	uc001jjx.1	-	6	566	c.529C>T	c.(529-531)CGT>TGT	p.R177C	ZWINT_uc001jjy.1_Intron|ZWINT_uc001jka.1_Missense_Mutation_p.R177C|ZWINT_uc009xoy.1_RNA	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	177	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						CCTGTCTTACGCTCCCTCACC	0.522													A	58118660	G	A	58118660	3	1	75	1	0	0	0	0	1	0	0	0	18246	1087	38	1	316	1	ZWINT	10	58118660	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	224	58118660	77416087	685	52896											
SLC16A9	220963	broad.mit.edu	37	chr10	61414350	61414350	+	Splice_Site	DEL	A	A	-													aaaggccaacgcttgaacctAaaaagggaatgggaactgtt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:61414349_61414349TA>T	uc010qig.1	-	5	886	c.437_splice	c.e5-1	p.G146_splice		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	146					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CGCTTGAACCTAAAAAGGGAA	0.393													-	61414350	A	-	61414350	8	5	75	1	0	1	0	1	0	0	1	0	14415	377	13	0		0	SLC16A9	10	61414350	Splice_Site	DEL	A	TCGA-BR-8363-01A-11D-2340-08	3295690	61414350	74120397	686	52897											
ANK3	288	broad.mit.edu	37	chr10	61846455	61846455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaatgctacagagaagaCgcagattgggtgtagtgtcc	13	7	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:61846455C>T	uc001jky.2	-	30	3920	c.3728G>A	c.(3727-3729)CGT>CAT	p.R1243H	ANK3_uc001jkw.2_Missense_Mutation_p.R377H|ANK3_uc009xpa.2_Missense_Mutation_p.R377H|ANK3_uc001jkx.2_Missense_Mutation_p.R421H|ANK3_uc010qih.1_Missense_Mutation_p.R1244H|ANK3_uc001jkz.3_Missense_Mutation_p.R1237H|ANK3_uc001jla.1_Missense_Mutation_p.R309H|ANK3_uc001jlb.1_Missense_Mutation_p.R761H	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1243					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						ACAGAGAAGACGCAGATTGGG	0.418													T	61846455	C	T	61846455	3	4	75	1	0	0	0	0	1	0	0	0	622	536	19	1	9774	1	ANK3	10	61846455	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	432105	61846455	73688292	687	52898											
EGR2	1959	broad.mit.edu	37	chr10	64573145	64573145	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgtctcaggtggatcTtggtgtggcgcttcctctca	11	11	4	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:64573145T>G	uc010qim.1	-	3	1407	c.1253A>C	c.(1252-1254)AAG>ACG	p.K418T	EGR2_uc010qin.1_Missense_Mutation_p.K368T|EGR2_uc001jmi.2_Missense_Mutation_p.K418T|EGR2_uc010qio.1_Missense_Mutation_p.K431T|EGR2_uc009xph.2_Missense_Mutation_p.K418T	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	418	C2H2-type 3.				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAGGTGGATCTTGGTGTGGCG	0.622													G	64573145	T	G	64573145	3	3	75	1	0	0	0	0	1	0	0	0	4972	1609	56	5	181	5	EGR2	10	64573145	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	2726690	64573145	70961602	688	52899											
CTNNA3	29119	broad.mit.edu	37	chr10	67680138	67680138	+	Frame_Shift_Del	DEL	T	T	-													catgacttgcaatggatggaTttttttctttgctgagcctc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:67680137_67680137AT>A	uc009xpn.1	-	17	2762	c.2639_2639AT>T	c.(2638-2640)atcfs	p.I880fs	CTNNA3_uc001jmw.2_Frame_Shift_Del_p.I880fs	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	880					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CAATGGATGGATTTTTTTCTT	0.408													-	67680138	T	-	67680138	7	5	75	1	0	1	0	1	0	0	0	0	4014	1493	52	0	53	0	CTNNA3	10	67680138	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	3106993	67680138	67854609	689	52900											
CTNNA3	29119	broad.mit.edu	37	chr10	67680208	67680209	+	Frame_Shift_Ins	INS	-	-	T													tctctcttttaatcaagggtINSttttttgcaggagccttcat							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:67680207_67680208G>GT	uc009xpn.1	-	17	2691_2692	c.2568_2569C>AC	c.(2566-2571)aaacccfs	p.K856fs	CTNNA3_uc001jmw.2_Frame_Shift_Ins_p.K856fs	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	856					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.P857fs*4(3)|p.K855E(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTAATCAAGGGTTTTTTTGCAG	0.465													T	67680209	-	T	67680208	7	5	75	1	0	1	1	0	0	0	0	0	4014	1722	60	0	123	0	CTNNA3	10	67680208	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	70	67680208	67854539	690	52901											
HERC4	26091	broad.mit.edu	37	chr10	69785320	69785320	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccgtccacaagcaatctcAgtgacaatgcttcccataag	6	13	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:69785320A>G	uc001jng.3	-	8	1202	c.891T>C	c.(889-891)ACT>ACC	p.T297T	HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Silent_p.T297T|HERC4_uc009xpr.2_Silent_p.T297T|HERC4_uc001jni.3_Silent_p.T41T|HERC4_uc001jnj.2_Silent_p.T297T	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	297	RCC1 6.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						AAGCAATCTCAGTGACAATGC	0.393													G	69785320	A	G	69785320	2	3	75	1	0	0	0	0	0	0	0	1	7060	175	7	3		3	HERC4	10	69785320	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	2105112	69785320	65749427	691	52902											
KIAA1274	27143	broad.mit.edu	37	chr10	72298102	72298102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctgagctgtaccgcctgCccgtgacgctgagctcagca	11	16	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:72298102C>T	uc001jrd.3	+	12	1671	c.1390C>T	c.(1390-1392)CCC>TCC	p.P464S	KIAA1274_uc001jre.3_5'Flank	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	464										ovary(2)|central_nervous_system(1)	3						GTACCGCCTGCCCGTGACGCT	0.647													T	72298102	C	T	72298102	3	4	75	1	0	0	0	0	1	0	0	0	8220	739	26	2	1432	2	KIAA1274	10	72298102	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2512782	72298102	63236645	692	52903											
OIT3	170392	broad.mit.edu	37	chr10	74684343	74684343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagcttggtggagagctgCtttgccacccccacctccaa	10	14	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:74684343C>T	uc001jte.1	+	7	1526	c.1308C>T	c.(1306-1308)TGC>TGT	p.C436C	OIT3_uc009xqs.1_Intron	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	oncoprotein-induced transcript 3 precursor	436	ZP.					nuclear envelope	calcium ion binding			ovary(2)	2	Prostate(51;0.0198)					TGGAGAGCTGCTTTGCCACCC	0.567													T	74684343	C	T	74684343	2	4	75	1	0	0	0	0	0	0	0	1	10849	805	28	2		2	OIT3	10	74684343	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2386241	74684343	60850404	693	52904											
TTC18	118491	broad.mit.edu	37	chr10	75051761	75051761	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatccagattctggggctcAcggaccaatctctaagcatc	9	12	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:75051761A>G	uc009xrc.2	-	18	2113	c.1992T>C	c.(1990-1992)CGT>CGC	p.R664R	TTC18_uc001jty.2_Silent_p.R664R|TTC18_uc001jtv.3_5'Flank|TTC18_uc001jtw.3_5'Flank|TTC18_uc001jtx.2_Silent_p.R45R	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	664	TPR 1.						binding			ovary(2)|central_nervous_system(1)	3	Prostate(51;0.0119)					TCTGGGGCTCACGGACCAATC	0.428													G	75051761	A	G	75051761	2	3	75	1	0	0	0	0	0	0	0	1	16682	146	6	3		3	TTC18	10	75051761	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	367418	75051761	60482986	694	52905											
MYOZ1	58529	broad.mit.edu	37	chr10	75394400	75394400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgccccctgcctggctgCcgcctctgccgttgctcttg	10	19	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:75394400C>T	uc001jur.2	-	4	709	c.344G>A	c.(343-345)GGC>GAC	p.G115D		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	myozenin 1	115	Gly-rich.				myofibril assembly	nucleus|pseudopodium	FATZ binding			ovary(2)	2	Prostate(51;0.0112)					TGCCTGGCTGCCGCCTCTGCC	0.612													T	75394400	C	T	75394400	3	4	75	1	0	0	0	0	1	0	0	0	10095	739	26	2	567	2	MYOZ1	10	75394400	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	342639	75394400	60140347	695	52906											
SYNPO2L	79933	broad.mit.edu	37	chr10	75407589	75407589	+	Frame_Shift_Del	DEL	G	G	-													atgcgctgctcgcgagcgctGgggggctcaggagcccctgg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:75407588_75407588TG>T	uc001jut.4	-	3	1974	c.1822_1822CA>A	c.(1822-1824)agcfs	p.S608fs	SYNPO2L_uc001jus.4_Frame_Shift_Del_p.S384fs	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	608	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TCGCGAGCGCTGGGGGGCTCA	0.701													-	75407589	G	-	75407589	7	5	75	1	0	1	0	1	0	0	0	0	15455	1335	47	0	1116	0	SYNPO2L	10	75407589	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	13189	75407589	60127158	696	52907											
KCNMA1	3778	broad.mit.edu	37	chr10	78651329	78651329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagctaactgggccacgCggcagcggtccctattggcc	14	14	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:78651329C>T	uc001jxn.2	-	26	3473	c.3296G>A	c.(3295-3297)CGC>CAC	p.R1099H	KCNMA1_uc001jxj.2_Missense_Mutation_p.R1045H|KCNMA1_uc001jxk.1_Missense_Mutation_p.R717H|KCNMA1_uc009xrt.1_Missense_Mutation_p.R890H|KCNMA1_uc001jxl.1_Missense_Mutation_p.R724H|KCNMA1_uc001jxo.2_Missense_Mutation_p.R1082H|KCNMA1_uc001jxm.2_Missense_Mutation_p.R1041H|KCNMA1_uc001jxq.2_Missense_Mutation_p.R1071H|uc001jxp.2_Intron	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1099	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CTGGGCCACGCGGCAGCGGTC	0.607													T	78651329	C	T	78651329	3	4	75	1	0	0	0	0	1	0	0	0	8073	768	27	1	455	1	KCNMA1	10	78651329	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3243740	78651329	56883418	697	52908											
KCNMA1	3778	broad.mit.edu	37	chr10	78846314	78846314	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccacctgagtaaaatgtcGtttgaacagagcttcaagct	8	9	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:78846314G>A	uc001jxn.2	-	11	1549	c.1372C>T	c.(1372-1374)CGA>TGA	p.R458*	KCNMA1_uc001jxj.2_Nonsense_Mutation_p.R458*|KCNMA1_uc001jxk.1_Nonsense_Mutation_p.R73*|KCNMA1_uc009xrt.1_Nonsense_Mutation_p.R278*|KCNMA1_uc001jxl.1_Nonsense_Mutation_p.R112*|KCNMA1_uc001jxo.2_Nonsense_Mutation_p.R458*|KCNMA1_uc001jxm.2_Nonsense_Mutation_p.R458*|KCNMA1_uc001jxq.2_Nonsense_Mutation_p.R458*	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	458	RCK N-terminal.|Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GTAAAATGTCGTTTGAACAGA	0.458													A	78846314	G	A	78846314	4	1	75	1	0	0	0	0	0	1	0	0	8073	1153	40	1	2582	1	KCNMA1	10	78846314	Nonsense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	194985	78846314	56688433	698	52909											
ZMIZ1	57178	broad.mit.edu	37	chr10	81056357	81056357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagaggatgcccagccagCcgagctccgggcagtacccg	14	15	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:81056357C>T	uc001kaf.2	+	13	1932	c.1360C>T	c.(1360-1362)CCG>TCG	p.P454S	ZMIZ1_uc001kag.2_Missense_Mutation_p.P330S|ZMIZ1_uc001kah.1_3'UTR	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	454	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GCCCAGCCAGCCGAGCTCCGG	0.672													T	81056357	C	T	81056357	3	4	75	1	0	0	0	0	1	0	0	0	17693	739	26	2	1394	2	ZMIZ1	10	81056357	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2210043	81056357	54478390	699	52910											
WAPAL	23063	broad.mit.edu	37	chr10	88260130	88260130	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtacgtcctacagttggtTggcctaagaacactttgtac	9	10	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:88260130T>C	uc001kdo.2	-	3	1312	c.870A>G	c.(868-870)CCA>CCG	p.P290P	WAPAL_uc001kdn.2_Silent_p.P333P|WAPAL_uc009xsw.2_Silent_p.P290P	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	290	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1						TACAGTTGGTTGGCCTAAGAA	0.428													C	88260130	T	C	88260130	2	2	75	1	0	0	0	0	0	0	0	1	17245	1799	63	3		3	WAPAL	10	88260130	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	7203773	88260130	47274617	700	52911											
PANK1	53354	broad.mit.edu	37	chr10	91359120	91359120	+	Frame_Shift_Del	DEL	T	T	-													ggttatcaaggcagtacggcTttttttgacacaattcagga							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:91359119_91359119CT>C	uc001kgp.2	-	2	1470	c.1200_1200AG>G	c.(1198-1200)aagfs	p.K400fs	PANK1_uc001kgn.2_Frame_Shift_Del_p.K175fs|PANK1_uc001kgo.2_Frame_Shift_Del_p.K175fs|PANK1_uc009xtu.2_Frame_Shift_Del_p.K202fs	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	Homo sapiens pantothenate kinase 1 (PANK1), transcript variant alpha, mRNA.	400					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	GGCAGTACGGCTTTTTTTGAC	0.433													-	91359120	T	-	91359120	7	5	75	1	0	1	0	1	0	0	0	0	11416	1609	56	0	617	0	PANK1	10	91359120	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	3098990	91359120	44175627	701	52912											
KIF20B	9585	broad.mit.edu	37	chr10	91477457	91477457	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaagtgtattaacgtcTtgaagaatagtgaaaagtca	11	3	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:91477457T>C	uc001kgs.1	+	11	1321	c.1249T>C	c.(1249-1251)TTG>CTG	p.L417L	KIF20B_uc001kgr.1_Silent_p.L417L	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	417					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3						TATTAACGTCTTGAAGAATAG	0.299													C	91477457	T	C	91477457	2	2	75	1	0	0	0	0	0	0	0	1	8287	1606	56	3		3	KIF20B	10	91477457	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	118337	91477457	44057290	702	52913											
TNKS2	80351	broad.mit.edu	37	chr10	93608141	93608141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctgacacgtaccctaggCggatgatgtcagcgctcttc	10	13	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:93608141C>T	uc001khp.2	+	19	2657	c.2360C>T	c.(2359-2361)GCG>GTG	p.A787V		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	787					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				GTACCCTAGGCGGATGATGTC	0.443													T	93608141	C	T	93608141	3	4	75	1	0	0	0	0	1	0	0	0	16318	782	27	1	2434	1	TNKS2	10	93608141	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2130684	93608141	41926606	703	52914											
BTAF1	9044	broad.mit.edu	37	chr10	93773501	93773501	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgaacgccagtttgctgcTcgatatggtaaacctatatt	8	9	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:93773501T>C	uc001khr.2	+	31	4487	c.4389T>C	c.(4387-4389)GCT>GCC	p.A1463A		NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	1463					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				AGTTTGCTGCTCGATATGGTA	0.413													C	93773501	T	C	93773501	2	2	75	1	0	0	0	0	0	0	0	1	1536	1538	54	3		3	BTAF1	10	93773501	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	165360	93773501	41761246	704	52915											
PLCE1	51196	broad.mit.edu	37	chr10	96066371	96066371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagatcttgtatttcttcGttttgcagttgtggaaaaca	9	6	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:96066371G>A	uc001kjk.2	+	26	6444	c.5810G>A	c.(5809-5811)CGT>CAT	p.R1937H	PLCE1_uc010qnx.1_Missense_Mutation_p.R1921H|PLCE1_uc001kjm.2_Missense_Mutation_p.R1629H|PLCE1_uc001kjp.2_Missense_Mutation_p.R295H	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1937	C2.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				GTATTTCTTCGTTTTGCAGTT	0.383													A	96066371	G	A	96066371	3	1	75	1	0	0	0	0	1	0	0	0	12034	1145	40	1	6194	1	PLCE1	10	96066371	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2292870	96066371	39468376	705	52916											
SORBS1	10580	broad.mit.edu	37	chr10	97174285	97174285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcccgtgaggtcaggctccGagactctgcggaggtcctcc	13	15	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:97174285G>A	uc001kkp.2	-	7	821	c.776C>T	c.(775-777)TCG>TTG	p.S259L	SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Missense_Mutation_p.S259L|SORBS1_uc001kkq.2_Missense_Mutation_p.S190L|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Missense_Mutation_p.S227L|SORBS1_uc001kkw.2_Missense_Mutation_p.S259L|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Missense_Mutation_p.S457L|SORBS1_uc001kkx.1_Missense_Mutation_p.S227L	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	259					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GTCAGGCTCCGAGACTCTGCG	0.622													A	97174285	G	A	97174285	3	1	75	1	0	0	0	0	1	0	0	0	14927	1059	37	1	3399	1	SORBS1	10	97174285	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1107914	97174285	38360462	706	52917											
CHUK	1147	broad.mit.edu	37	chr10	101950684	101950684	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taatagtgcttaaatggccaAggcagttcaaattttcttct	7	7	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:101950684A>C	uc001kqp.2	-	20	2205	c.2150T>G	c.(2149-2151)CTT>CGT	p.L717R		NM_001278	NP_001269	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	717					I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		TAAATGGCCAAGGCAGTTCAA	0.403													C	101950684	A	C	101950684	3	2	75	1	0	0	0	0	1	0	0	0	3416	72	3	5	95	5	CHUK	10	101950684	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	4776399	101950684	33584063	707	52918											
BTRC	8945	broad.mit.edu	37	chr10	103310573	103310573	+	Frame_Shift_Del	DEL	C	C	-													atccagctgcccaagctgaaCccccccgttccccttctcga							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:103310572_103310572AC>A	uc001kta.3	+	13	1886	c.1773_1773AC>A	c.(1771-1773)gaafs	p.E591fs	BTRC_uc001ktb.3_Frame_Shift_Del_p.E555fs|BTRC_uc001ktc.3_Frame_Shift_Del_p.E565fs	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	591					Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleus				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTT	0.433													-	103310573	C	-	103310573	7	5	75	1	0	1	0	1	0	0	0	0	1569	507	18	0	1828	0	BTRC	10	103310573	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	1359889	103310573	32224174	708	52919											
PPRC1	23082	broad.mit.edu	37	chr10	103899446	103899446	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgcttatgcctacacTggagtcagagacagaggctg	13	10	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:103899446T>C	uc001kum.2	+	5	1220	c.1181T>C	c.(1180-1182)CTG>CCG	p.L394P	PPRC1_uc001kun.2_Missense_Mutation_p.L274P|PPRC1_uc010qqj.1_Missense_Mutation_p.L394P|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ATGCCTACACTGGAGTCAGAG	0.557													C	103899446	T	C	103899446	3	2	75	1	0	0	0	0	1	0	0	0	12410	1580	55	3	1199	3	PPRC1	10	103899446	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	588873	103899446	31635301	709	52920											
PSD	5662	broad.mit.edu	37	chr10	104170668	104170668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgaggccctccaggttccCgatgaagtccccgcaggtca	11	14	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:104170668C>T	uc001kvg.1	-	10	2565	c.2038G>A	c.(2038-2040)GGG>AGG	p.G680R	PSD_uc001kvf.1_5'Flank|PSD_uc001kvh.1_Missense_Mutation_p.G301R|PSD_uc009xxd.1_Missense_Mutation_p.G680R	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	680	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCCAGGTTCCCGATGAAGTCC	0.632													T	104170668	C	T	104170668	3	4	75	1	0	0	0	0	1	0	0	0	12646	652	23	1	1068	1	PSD	10	104170668	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	271222	104170668	31364079	710	52921											
MXI1	4601	broad.mit.edu	37	chr10	112039826	112039826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaactatttcttcagatcGttctgattcagagcgaggta	8	8	5	3	rs140539151	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:112039826G>A	uc001kza.2	+	5	713	c.506G>A	c.(505-507)CGT>CAT	p.R169H	MXI1_uc001kyy.2_Missense_Mutation_p.R236H|MXI1_uc001kyz.2_Missense_Mutation_p.R123H|MXI1_uc010qrc.1_Missense_Mutation_p.R159H|MXI1_uc009xxu.2_Missense_Mutation_p.R166H|MXI1_uc009xxv.2_RNA	NM_005962	NP_005953	P50539	MXI1_HUMAN	MAX interactor 1 isoform a	169					cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity				0		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TCTTCAGATCGTTCTGATTCA	0.443													A	112039826	G	A	112039826	3	1	75	1	0	0	0	0	1	0	0	0	10002	1145	40	1	802	1	MXI1	10	112039826	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	7869158	112039826	23494921	711	52922											
SMC3	9126	broad.mit.edu	37	chr10	112356237	112356237	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgaattgcaaaaagatgTtagaaaagcagaagaagaac	9	4	0	6			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:112356237T>C	uc001kze.2	+	19	2171	c.2045T>C	c.(2044-2046)GTT>GCT	p.V682A		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	682	Potential.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CAAAAAGATGTTAGAAAAGCA	0.378													C	112356237	T	C	112356237	3	2	75	1	0	0	0	0	1	0	0	0	14784	1725	60	3	2119	3	SMC3	10	112356237	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	316411	112356237	23178510	712	52923											
VTI1A	143187	broad.mit.edu	37	chr10	114428721	114428721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaaacagatgctaatttggGaaaaagctccaggattctga	11	6	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:114428721G>A	uc001kzy.2	+	7	900	c.524G>A	c.(523-525)GGA>GAA	p.G175E	VTI1A_uc001kzz.2_Missense_Mutation_p.G175E	NM_145206	NP_660207	Q96AJ9	VTI1A_HUMAN	SNARE Vti1a-beta protein	175	Potential.				intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity			ovary(1)	1		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		GCTAATTTGGGAAAAAGCTCC	0.363													A	114428721	G	A	114428721	3	1	75	1	0	0	0	0	1	0	0	0	17232	1174	41	4	550	4	VTI1A	10	114428721	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2072484	114428721	21106026	713	52924											
CASP7	840	broad.mit.edu	37	chr10	115489196	115489196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtgaatgacagagttgCcaggcactttgagtctcagt	13	8	1	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:115489196C>T	uc001lan.2	+	7	983	c.809C>T	c.(808-810)GCC>GTC	p.A270V	CASP7_uc001lam.2_3'UTR|CASP7_uc001lao.2_Missense_Mutation_p.A303V|CASP7_uc001lap.2_Missense_Mutation_p.A270V|CASP7_uc001laq.2_Missense_Mutation_p.A270V|CASP7_uc010qsa.1_Missense_Mutation_p.A355V|CASP7_uc010qsb.1_Missense_Mutation_p.A245V	NM_033339	NP_203125	P55210	CASP7_HUMAN	caspase 7 isoform alpha	270					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		GACAGAGTTGCCAGGCACTTT	0.522													T	115489196	C	T	115489196	3	4	75	1	0	0	0	0	1	0	0	0	2676	739	26	2	1012	2	CASP7	10	115489196	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1060475	115489196	20045551	714	52925											
EIF3A	8661	broad.mit.edu	37	chr10	120810113	120810113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatcctgcgttcttctttaCgctgccttttccgttcttcc	5	14	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:120810113C>T	uc001ldu.2	-	16	2539	c.2393G>A	c.(2392-2394)CGT>CAT	p.R798H	EIF3A_uc010qsu.1_Missense_Mutation_p.R764H|EIF3A_uc009xzg.1_5'Flank	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	798	Interaction with EIF3B.|Glu-rich.				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)		TTCTTCTTTACGCTGCCTTTT	0.418													T	120810113	C	T	120810113	3	4	75	1	0	0	0	0	1	0	0	0	5012	536	19	1	1783	1	EIF3A	10	120810113	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	5320917	120810113	14724634	715	52926											
INPP5F	22876	broad.mit.edu	37	chr10	121551118	121551118	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctactgaagacctttacGcatattaaatccaatgtgtc	5	9	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:121551118G>A	uc001leo.2	+	4	571	c.405G>A	c.(403-405)ACG>ACA	p.T135T	INPP5F_uc001len.3_Silent_p.T135T	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	135							phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGACCTTTACGCATATTAAAT	0.318													A	121551118	G	A	121551118	2	1	75	1	0	0	0	0	0	0	0	1	7758	1074	38	1		1	INPP5F	10	121551118	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	741005	121551118	13983629	716	52927											
TACC2	10579	broad.mit.edu	37	chr10	123844364	123844364	+	Frame_Shift_Del	DEL	G	G	-													ggggtgccacatcccccccaGggggagaacttggcagcaga					rs145103148	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:123844363_123844363AG>A	uc001lfv.3	+	3	2708	c.2348_2348AG>A	c.(2347-2349)cagfs	p.Q783fs	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Frame_Shift_Del_p.Q783fs|TACC2_uc010qtv.2_Frame_Shift_Del_p.Q783fs	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	783						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CATCCCCCCCAGGGGGAGAAC	0.627													-	123844364	G	-	123844364	7	5	75	1	0	1	0	1	0	0	0	0	15499	991	35	0	2359	0	TACC2	10	123844364	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	2293246	123844364	11690383	717	52928											
TACC2	10579	broad.mit.edu	37	chr10	123845448	123845448	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagacccaggaaagcagCaggctccggagaaacctgga	14	11	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:123845448C>T	uc001lfv.2	+	4	3793	c.3433C>T	c.(3433-3435)CAG>TAG	p.Q1145*	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Nonsense_Mutation_p.Q1145*|TACC2_uc010qtv.1_Nonsense_Mutation_p.Q1145*	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1145						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGAAAGCAGCAGGCTCCGGA	0.587													T	123845448	C	T	123845448	4	4	75	1	0	0	0	0	0	1	0	0	15499	711	25	2	3443	2	TACC2	10	123845448	Nonsense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1084	123845448	11689299	718	52929											
PLEKHA1	59338	broad.mit.edu	37	chr10	124159891	124159891	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaagctaaggccaaaggcGgagttctgttttggtaagta	12	6	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:124159891G>A	uc001lge.1	+	4	354	c.231G>A	c.(229-231)GCG>GCA	p.A77A	PLEKHA1_uc001lgf.1_Silent_p.A77A|PLEKHA1_uc001lgg.1_Silent_p.A77A|PLEKHA1_uc001lgh.2_Silent_p.A77A	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A	77	PH 1.				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			kidney(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGCCAAAGGCGGAGTTCTGTT	0.328													A	124159891	G	A	124159891	2	1	75	1	0	0	0	0	0	0	0	1	12055	1103	39	1		1	PLEKHA1	10	124159891	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	314443	124159891	11374856	719	52930											
FAM24A	118670	broad.mit.edu	37	chr10	124672308	124672308	+	Frame_Shift_Del	DEL	A	A	-													gaccctgatgctgtggctgtAaaaaatcacaacccagacaa							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:124672307_124672307TA>T	uc001lgv.3	+	2	276	c.155_155TA>T	c.(154-156)gtafs	p.V52fs		NM_001029888	NP_001025059	A6NFZ4	FA24A_HUMAN	Homo sapiens family with sequence similarity 24, member A (FAM24A), mRNA.	52						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		GCTGTGGCTGTAAAAAATCAC	0.478													-	124672308	A	-	124672308	7	5	75	1	0	1	0	1	0	0	0	0	5547	349	13	0	162	0	FAM24A	10	124672308	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	512417	124672308	10862439	720	52931											
CPXM2	119587	broad.mit.edu	37	chr10	125539757	125539757	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctcgttccggcggtgatAataattattaggatctaggg	11	7	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:125539757A>G	uc001lhk.1	-	7	1229	c.904T>C	c.(904-906)TAT>CAT	p.Y302H	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	302					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGGCGGTGATAATAATTATTA	0.453													G	125539757	A	G	125539757	3	3	75	1	0	0	0	0	1	0	0	0	3838	362	13	3	1398	3	CPXM2	10	125539757	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	867449	125539757	9994990	721	52932											
LHPP	64077	broad.mit.edu	37	chr10	126185528	126185528	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccgttctgctctctcctAggcgttactacaaggagacc	9	14	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:126185528A>G	uc001lhs.1	+	4	488	c.468_splice	c.e4-2	p.G156_splice	LHPP_uc001lht.1_Splice_Site_p.G156_splice|LHPP_uc009yai.1_Intron	NM_022126	NP_071409	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic						protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity				0		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		GCTCTCTCCTAGGCGTTACTA	0.602													G	126185528	A	G	126185528	5	3	75	1	0	0	0	0	0	0	1	0	8769	434	15	3	480	3	LHPP	10	126185528	Splice_Site	SNP	A	TCGA-BR-8363-01A-11D-2340-08	645771	126185528	9349219	722	52933											
CLRN3	119467	broad.mit.edu	37	chr10	129676547	129676547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaatgacgagcagtatgaGccagaacgagtatccgtaac	11	8	0	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:129676547G>A	uc001lka.1	-	3	710	c.547C>T	c.(547-549)CTC>TTC	p.L183F	CLRN3_uc001ljz.1_Missense_Mutation_p.L115F	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	clarin 3	183	Helical; (Potential).					integral to membrane				skin(1)	1		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				AGCAGTATGAGCCAGAACGAG	0.473													A	129676547	G	A	129676547	3	1	75	1	0	0	0	0	1	0	0	0	3559	971	34	2	137	2	CLRN3	10	129676547	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	3491019	129676547	5858200	723	52934											
KNDC1	85442	broad.mit.edu	37	chr10	135015099	135015099	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggacgcactgtcacggggAaacttcgaggtggggtttcg	16	9	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:135015099A>G	uc001llz.1	+	17	3085	c.3084A>G	c.(3082-3084)GGA>GGG	p.G1028G	KNDC1_uc001lma.1_Silent_p.G963G|KNDC1_uc001lmb.1_Silent_p.G440G	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1028					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGTCACGGGGAAACTTCGAGG	0.647													G	135015099	A	G	135015099	2	3	75	1	0	0	0	0	0	0	0	1	8426	233	9	3		3	KNDC1	10	135015099	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	5338552	135015099	519648	724	52935											
TOLLIP	54472	broad.mit.edu	37	chr11	1311572	1311572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgggcgtctcgtacaccGcgtagcccaggcgcagtcgg	15	15	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:1311572G>A	uc001lte.2	-	3	362	c.251C>T	c.(250-252)GCG>GTG	p.A84V	TOLLIP_uc001ltd.2_Missense_Mutation_p.A15V|TOLLIP_uc009ycu.2_Intron|TOLLIP_uc001ltf.2_Missense_Mutation_p.A34V	NM_019009	NP_061882	Q9H0E2	TOLIP_HUMAN	toll interacting protein	84	C2.				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding				0		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		CTCGTACACCGCGTAGCCCAG	0.587													A	1311572	G	A	1311572	3	1	75	1	0	0	0	0	1	0	0	0	16347	1087	38	1	589	1	TOLLIP	11	1311572	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08		1311572	133694944	725	52936											
TSSC4	10078	broad.mit.edu	37	chr11	2424091	2424091	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggcctcctcccagccacGgtgcagccattccatctgag	9	17	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:2424091G>A	uc001lwj.2	+	4	589	c.228G>A	c.(226-228)ACG>ACA	p.T76T	TSSC4_uc001lwi.2_Silent_p.T12T|TSSC4_uc001lwk.2_Silent_p.T76T|TSSC4_uc001lwl.2_Silent_p.T76T	NM_005706	NP_005697	Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	76											0		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCAGCCACGGTGCAGCCAT	0.652													A	2424091	G	A	2424091	2	1	75	1	0	0	0	0	0	0	0	1	16664	1103	39	1		1	TSSC4	11	2424091	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1112519	2424091	132582425	726	52937											
NUP98	4928	broad.mit.edu	37	chr11	3697439	3697439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggactgggtaaggctgcGcagttcgtccatggcatagt	14	8	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:3697439G>A	uc001lyh.2	-	33	5644	c.5353C>T	c.(5353-5355)CGC>TGC	p.R1785C	NUP98_uc001lyi.2_Missense_Mutation_p.R1711C|NUP98_uc001lyg.2_Missense_Mutation_p.R750C	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1802					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GTAAGGCTGCGCAGTTCGTCC	0.592			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								A	3697439	G	A	3697439	3	1	75	1	0	0	0	0	1	0	0	0	10773	1087	38	1	53	1	NUP98	11	3697439	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1273348	3697439	131309077	727	52938											
OR52M1	119772	broad.mit.edu	37	chr11	4566596	4566596	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatagaacgcagcctgcaccAgcccatgtactttttcttgt	8	12	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:4566596A>C	uc010qyf.1	+	1	176	c.176A>C	c.(175-177)CAG>CCG	p.Q59P		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M,	59	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCCTGCACCAGCCCATGTAC	0.522													C	4566596	A	C	4566596	3	2	75	1	0	0	0	0	1	0	0	0	11126	188	7	5	178	5	OR52M1	11	4566596	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	869157	4566596	130439920	728	52939											
OR52R1	119695	broad.mit.edu	37	chr11	4825712	4825712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaaggcttttggatgggaCtattggataccagggtgatt	13	5	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:4825712C>T	uc010qym.1	-	1	136	c.136G>A	c.(136-138)GTC>ATC	p.V46I		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	Error:Variant_position_missing_in_Q8NGF1_after_alignment					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGATGGGACTATTGGATAC	0.328													T	4825712	C	T	4825712	3	4	75	1	0	0	0	0	1	0	0	0	11131	580	20	4		4	OR52R1	11	4825712	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	259116	4825712	130180804	729	52940											
OR51G1	79324	broad.mit.edu	37	chr11	4945416	4945416	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggagagtggcatcagtacAaatgacgtggagaatggtga	15	4	1	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:4945416A>G	uc010qyr.1	-	1	154	c.154T>C	c.(154-156)TGT>CGT	p.C52R		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	52	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATCAGTACAAATGACGTGG	0.502													G	4945416	A	G	4945416	3	3	75	1	0	0	0	0	1	0	0	0	11098	130	5	3	813	3	OR51G1	11	4945416	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	119704	4945416	130061100	730	52941											
MMP26	56547	broad.mit.edu	37	chr11	5011865	5011865	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgatatgaagccatccgcaGtgaaagacagtatatataat	8	6	0	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:5011865G>C	uc001lzv.2	+	3	376	c.358G>C	c.(358-360)GTG>CTG	p.V120L		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	matrix metalloproteinase 26 preproprotein	120					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCCATCCGCAGTGAAAGACAG	0.393													C	5011865	G	C	5011865	3	2	75	1	0	0	0	0	1	0	0	0	9663	1029	36	5	368	5	MMP26	11	5011865	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	66449	5011865	129994651	731	52942											
OR52D1	390066	broad.mit.edu	37	chr11	5510494	5510494	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatactgtgagcatatgggCattgcccgactggcctgtgc	12	11	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:5510494C>T	uc010qzg.1	+	1	558	c.558C>T	c.(556-558)GGC>GGT	p.G186G	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D,	186	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCATATGGGCATTGCCCGAC	0.517													T	5510494	C	T	5510494	2	4	75	1	0	0	0	0	0	0	0	1	11114	697	25	2		2	OR52D1	11	5510494	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	498629	5510494	129496022	732	52943											
OR52E8	390079	broad.mit.edu	37	chr11	5878343	5878343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctaatgttgactttgatgCtggcacaggccagacgggca	12	10	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:5878343C>T	uc010qzr.1	-	1	590	c.590G>A	c.(589-591)AGC>AAC	p.S197N	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	197	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACTTTGATGCTGGCACAGGC	0.478													T	5878343	C	T	5878343	3	4	75	1	0	0	0	0	1	0	0	0	11118	797	28	2	365	2	OR52E8	11	5878343	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	367849	5878343	129128173	733	52944											
FAM160A2	84067	broad.mit.edu	37	chr11	6244441	6244441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcgaggcagtgatgagtAcagggcactgagccctgtgg	15	9	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:6244441A>G	uc001mcl.3	-	4	1164	c.805T>C	c.(805-807)TAC>CAC	p.Y269H	FAM160A2_uc001mck.3_Missense_Mutation_p.Y269H|FAM160A2_uc001mcm.2_Missense_Mutation_p.Y269H	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	269					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						AGTGATGAGTACAGGGCACTG	0.473													G	6244441	A	G	6244441	3	3	75	1	0	0	0	0	1	0	0	0	5469	391	14	3	2191	3	FAM160A2	11	6244441	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	366098	6244441	128762075	734	52945											
TPP1	1200	broad.mit.edu	37	chr11	6638276	6638276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcaagttgtatcgcttaCggatcacagagggggttacc	13	8	2	1	rs121908209		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:6638276C>T	uc001mel.1	-	6	678	c.617G>A	c.(616-618)CGT>CAT	p.R206H	TPP1_uc001mek.1_5'UTR|TPP1_uc010rar.1_3'UTR	NM_000391	NP_000382	O14773	TPP1_HUMAN	tripeptidyl-peptidase I preproprotein	206					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GTATCGCTTACGGATCACAGA	0.592													T	6638276	C	T	6638276	3	4	75	1	0	0	0	0	1	0	0	0	16408	536	19	1	1106	1	TPP1	11	6638276	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	393835	6638276	128368240	735	52946											
IPO7	10527	broad.mit.edu	37	chr11	9430059	9430059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctatctgaaaaatatgataAcacagtattggcctgatcga	7	7	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:9430059A>G	uc001mho.2	+	3	335	c.193A>G	c.(193-195)ACA>GCA	p.T65A		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	65	Importin N-terminal.				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AAATATGATAACACAGTATTG	0.368													G	9430059	A	G	9430059	3	3	75	1	0	0	0	0	1	0	0	0	7797	43	2	3	203	3	IPO7	11	9430059	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	2791783	9430059	125576457	736	52947											
AMPD3	272	broad.mit.edu	37	chr11	10500145	10500145	+	Frame_Shift_Del	DEL	C	C	-													ccacagcaagattggaagggCcccccggcagccagtccggc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:10500144_10500144GC>G	uc001min.1	+	2	665	c.320_320GC>G	c.(319-321)ggcfs	p.G107fs	AMPD3_uc010rbz.1_Intron|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc009yfx.1_Frame_Shift_Del_p.G98fs|AMPD3_uc001mio.1_Frame_Shift_Del_p.G98fs|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Frame_Shift_Del_p.G105fs|AMPD3_uc009yfy.2_Frame_Shift_Del_p.G98fs	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	98					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GATTGGAAGGGCCCCCCGGCA	0.577													-	10500145	C	-	10500145	7	5	75	1	0	1	0	1	0	0	0	0	587	726	26	0	351	0	AMPD3	11	10500145	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	1070086	10500145	124506371	737	52948											
MICAL2	9645	broad.mit.edu	37	chr11	12281433	12281433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccattggcaccctggaagGcagccccccaggtatctcca	10	17	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:12281433G>A	uc001mjz.2	+	26	3611	c.3323G>A	c.(3322-3324)GGC>GAC	p.G1108D	MICAL2_uc010rch.1_Missense_Mutation_p.G918D|MICAL2_uc001mka.2_Missense_Mutation_p.G1108D|MICAL2_uc010rci.1_Missense_Mutation_p.G1087D|MICAL2_uc001mkb.2_Missense_Mutation_p.G882D|MICAL2_uc001mkc.2_Missense_Mutation_p.G861D|MICAL2_uc001mkd.2_Missense_Mutation_p.G690D|MICAL2_uc010rcj.1_Missense_Mutation_p.G320D|MICAL2_uc001mkf.2_RNA	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	1108						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		ACCCTGGAAGGCAGCCCCCCA	0.612													A	12281433	G	A	12281433	3	1	75	1	0	0	0	0	1	0	0	0	9570	1203	42	2	3417	2	MICAL2	11	12281433	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1781288	12281433	122725083	738	52949											
PDE3B	5140	broad.mit.edu	37	chr11	14880717	14880717	+	Frame_Shift_Del	DEL	T	T	-													gtggaattcaagcgctttcgTtttttagtcattgaagcaat					rs146384818		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:14880716_14880716GT>G	uc001mln.3	+	12	3001	c.2648_2648GT>G	c.(2647-2649)cgtfs	p.R883fs	PDE3B_uc010rcr.2_Frame_Shift_Del_p.R832fs	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	883	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	Golgi apparatus|cytosol|endoplasmic reticulum|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	p.R883H(2)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AAGCGCTTTCGTTTTTTAGTC	0.383													-	14880717	T	-	14880717	7	5	75	1	0	1	0	1	0	0	0	0	11638	1712	60	0	2699	0	PDE3B	11	14880717	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	2599284	14880717	120125799	739	52950											
NAV2	89797	broad.mit.edu	37	chr11	19955107	19955107	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccagcttcgaagagagCgaggagctggaggccgccag	16	12	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:19955107C>T	uc010rdm.1	+	8	1747	c.1386C>T	c.(1384-1386)AGC>AGT	p.S462S	NAV2_uc001mpp.2_Silent_p.S375S|NAV2_uc001mpr.3_Silent_p.S439S	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	462						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						TCGAAGAGAGCGAGGAGCTGG	0.617													T	19955107	C	T	19955107	2	4	75	1	0	0	0	0	0	0	0	1	10184	767	27	1		1	NAV2	11	19955107	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	5074390	19955107	115051409	740	52951											
BBOX1	8424	broad.mit.edu	37	chr11	27114773	27114773	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggattttgaagatgttttAagatatgatgaacacgcata	9	3	0	5			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:27114773A>G	uc001mre.1	+	5	761	c.393A>G	c.(391-393)TTA>TTG	p.L131L	BBOX1_uc009yih.1_Silent_p.L131L|BBOX1_uc001mrg.1_Silent_p.L131L	NM_003986	NP_003977	O75936	BODG_HUMAN	gamma-butyrobetaine dioxygenase	131					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1					Succinic acid(DB00139)|Vitamin C(DB00126)	AAGATGTTTTAAGATATGATG	0.418													G	27114773	A	G	27114773	2	3	75	1	0	0	0	0	0	0	0	1	1334	359	13	3		3	BBOX1	11	27114773	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	7159666	27114773	107891743	741	52952											
BDNF	627	broad.mit.edu	37	chr11	27679519	27679520	+	Frame_Shift_Ins	INS	-	-	C													ccaatgccttttgtctatgcINSccctgcagccttcttttgtg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:27679518_27679519G>GC	uc001mrv.3	-	1	951_952	c.593_594C>GC	c.(592-594)ggcfs	p.G198fs	BDNF-AS_uc009yip.3_Intron|BDNF-AS_uc001mrn.3_Intron|BDNF-AS_uc001mro.3_Intron|BDNF-AS_uc001mrm.3_Intron|BDNF-AS_uc009yiq.3_Intron|BDNF-AS_uc001mrp.3_Intron|BDNF-AS_uc009yij.3_Intron|BDNF-AS_uc009yik.3_Intron|BDNF-AS_uc009yil.3_Intron|BDNF-AS_uc009yin.3_Intron|BDNF-AS_uc009yio.3_Intron|BDNF-AS_uc009yim.3_Intron|BDNF-AS_uc009yir.3_Intron|BDNF-AS_uc009yis.3_Intron|BDNF-AS_uc009yiu.3_Intron|BDNF-AS_uc009yix.3_Intron|BDNF-AS_uc009yiy.3_Intron|BDNF-AS_uc001mrq.4_Intron|BDNF-AS_uc009yiw.3_Intron|BDNF-AS_uc009yiz.3_Intron|BDNF-AS_uc001mrr.4_Intron|BDNF-AS_uc009yit.3_Intron|BDNF-AS_uc009yiv.3_Intron|BDNF-AS_uc009yja.3_Intron|BDNF-AS_uc009yjb.3_Intron|BDNF_uc021qff.1_Frame_Shift_Ins_p.G198fs|BDNF_uc010rdu.2_Frame_Shift_Ins_p.G198fs|BDNF_uc001mrt.3_Frame_Shift_Ins_p.G213fs|BDNF_uc010rdw.2_Frame_Shift_Ins_p.G198fs|BDNF_uc009yjd.3_Frame_Shift_Ins_p.G198fs|BDNF_uc001mru.3_Frame_Shift_Ins_p.G198fs|BDNF_uc010rdx.2_Frame_Shift_Ins_p.G198fs|BDNF_uc009yjf.3_Frame_Shift_Ins_p.G227fs|BDNF_uc010rdy.2_Frame_Shift_Ins_p.G198fs|BDNF_uc009yjg.3_Frame_Shift_Ins_p.G198fs|BDNF_uc009yje.3_Frame_Shift_Ins_p.G280fs|BDNF_uc001mrw.4_Frame_Shift_Ins_p.G198fs|BDNF_uc001mry.4_Frame_Shift_Ins_p.G198fs|BDNF_uc001mrz.4_Frame_Shift_Ins_p.G198fs|BDNF_uc001mrx.3_Frame_Shift_Ins_p.G198fs|BDNF_uc001msa.3_Frame_Shift_Ins_p.G206fs	NM_170733	NP_733931	P23560	BDNF_HUMAN	Homo sapiens brain-derived neurotrophic factor (BDNF), transcript variant 5, mRNA.	198						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						TTTTGTCTATGCCCCTGCAGCC	0.485													C	27679520	-	C	27679519	7	5	75	1	0	1	1	0	0	0	0	0	1394	739	26	0	154	0	BDNF	11	27679519	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	564746	27679519	107326997	742	52953											
QSER1	79832	broad.mit.edu	37	chr11	32953671	32953671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcacttgggggatcccaGcagactcctcaagcctacag	10	14	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:32953671G>A	uc001mty.2	+	4	747	c.480G>A	c.(478-480)CAG>CAA	p.Q160Q	QSER1_uc001mtz.1_Silent_p.Q160Q|QSER1_uc001mua.2_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	160	Ser-rich.									ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					GGGGATCCCAGCAGACTCCTC	0.448													A	32953671	G	A	32953671	2	1	75	1	0	0	0	0	0	0	0	1	12882	962	34	2		2	QSER1	11	32953671	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	5274152	32953671	102052845	743	52954											
CAPRIN1	4076	broad.mit.edu	37	chr11	34093453	34093453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttgtcattttaggatgcCgtttctaagtaccaggaagt	9	7	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:34093453C>T	uc001mvh.1	+	4	474	c.285C>T	c.(283-285)GCC>GCT	p.A95A	CAPRIN1_uc001mvg.2_Silent_p.A95A|CAPRIN1_uc001mvi.2_Silent_p.A95A|CAPRIN1_uc001mvj.1_Silent_p.A14A	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	membrane component chromosome 11 surface marker	95					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				TTTAGGATGCCGTTTCTAAGT	0.313													T	34093453	C	T	34093453	2	4	75	1	0	0	0	0	0	0	0	1	2635	639	23	1		1	CAPRIN1	11	34093453	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1139782	34093453	100913063	744	52955											
CAT	847	broad.mit.edu	37	chr11	34478308	34478308	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggttgaacagatagccTtcgacccaagcaacatgcca	9	12	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:34478308T>G	uc001mvm.2	+	8	1083	c.1000T>G	c.(1000-1002)TTC>GTC	p.F334V	CAT_uc009ykc.1_RNA	NM_001752	NP_001743	P04040	CATA_HUMAN	catalase	334					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ACAGATAGCCTTCGACCCAAG	0.498													G	34478308	T	G	34478308	3	3	75	1	0	0	0	0	1	0	0	0	2686	1609	56	5	1030	5	CAT	11	34478308	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	384855	34478308	100528208	745	52956											
SLC1A2	6506	broad.mit.edu	37	chr11	35336618	35336618	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaatgagcatttttagcaTcctcatgagtatatcccctg	8	9	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:35336618T>C	uc001mwd.2	-	3	854	c.262A>G	c.(262-264)ATG>GTG	p.M88V	SLC1A2_uc001mwe.2_Missense_Mutation_p.M79V|SLC1A2_uc010rev.1_Missense_Mutation_p.M88V	NM_004171	NP_004162	P43004	EAA2_HUMAN	excitatory amino acid transporter 2	88	Helical; (Potential).				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			ovary(2)|central_nervous_system(1)	3	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	ATTTTTAGCATCCTCATGAGT	0.498													C	35336618	T	C	35336618	3	2	75	1	0	0	0	0	1	0	0	0	14432	1435	50	3	1498	3	SLC1A2	11	35336618	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	858310	35336618	99669898	746	52957											
CHST1	8534	broad.mit.edu	37	chr11	45672299	45672299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgaggatgtgggtcttgcGggagaggttgtaggcgaagg	21	3	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:45672299G>A	uc001mys.1	-	4	846	c.175C>T	c.(175-177)CGC>TGC	p.R59C		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	59	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TGGGTCTTGCGGGAGAGGTTG	0.647													A	45672299	G	A	45672299	3	1	75	1	0	0	0	0	1	0	0	0	3397	1116	39	1	1064	1	CHST1	11	45672299	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	10335681	45672299	89334217	747	52958											
HARBI1	283254	broad.mit.edu	37	chr11	46637860	46637860	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagatgttggtgcaagaacGtatttttaagaaagtatcag	11	3	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:46637860G>A	uc001ncy.2	-	2	176	c.-72C>T	c.(-74--70)TACGT>TATGT		KIAA0652_uc009yld.2_5'Flank|KIAA0652_uc001nda.2_5'Flank|KIAA0652_uc001ndb.2_5'Flank|KIAA0652_uc001ncz.2_5'Flank|KIAA0652_uc001ndc.2_5'Flank|KIAA0652_uc010rgv.1_5'Flank	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1							cytoplasm|nucleus	metal ion binding|nuclease activity				0						GTGCAAGAACGTATTTTTAAG	0.358													A	46637860	G	A	46637860	1	1	75	1	0	0	0	0	0	0	0	0	6958	1160	40	1		1	HARBI1	11	46637860	Translation_Start_Site	SNP	G	TCGA-BR-8363-01A-11D-2340-08	965561	46637860	88368656	748	52959											
F2	2147	broad.mit.edu	37	chr11	46741326	46741326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccttcttggaggaggtgCgcaagggcaacctggagcga	15	10	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:46741326C>T	uc001ndf.3	+	2	197	c.154C>T	c.(154-156)CGC>TGC	p.R52C	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	52	Gla.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			ovary(3)	3		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GGAGGAGGTGCGCAAGGGCAA	0.662													T	46741326	C	T	46741326	3	4	75	1	0	0	0	0	1	0	0	0	5342	768	27	1	160	1	F2	11	46741326	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	103466	46741326	88265190	749	52960											
OR5W2	390148	broad.mit.edu	37	chr11	55681486	55681486	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actaactcattgacctgtgtAtctgagcgagagagtaataa	9	7	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:55681486A>G	uc010rir.1	-	1	573	c.573T>C	c.(571-573)GAT>GAC	p.D191D		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	191	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGACCTGTGTATCTGAGCGAG	0.383													G	55681486	A	G	55681486	2	3	75	1	0	0	0	0	0	0	0	1	11185	446	16	3		3	OR5W2	11	55681486	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	8940160	55681486	79325030	750	52961											
OR5F1	338674	broad.mit.edu	37	chr11	55761559	55761559	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagcttgaaaagtgggggActgtcacagaagaagtgatg	16	4	1	5			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:55761559A>G	uc010riv.1	-	1	543	c.543T>C	c.(541-543)AGT>AGC	p.S181S		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	181	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					AAAGTGGGGGACTGTCACAGA	0.453													G	55761559	A	G	55761559	2	3	75	1	0	0	0	0	0	0	0	1	11158	272	10	3		3	OR5F1	11	55761559	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	80073	55761559	79244957	751	52962											
LRRC55	219527	broad.mit.edu	37	chr11	56949628	56949628	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccccgtcctttgcacatgCcgtaaccaggtggtggattg	12	12	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:56949628C>T	uc001njl.1	+	1	408	c.261C>T	c.(259-261)TGC>TGT	p.C87C		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	57	LRRNT.					integral to membrane					0						TTTGCACATGCCGTAACCAGG	0.637													T	56949628	C	T	56949628	2	4	75	1	0	0	0	0	0	0	0	1	9011	747	26	2		2	LRRC55	11	56949628	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1188069	56949628	78056888	752	52963											
SLC43A3	29015	broad.mit.edu	37	chr11	57182520	57182520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggtgccaggcaaagcgccGagagaaagcgtagctccaga	14	11	0	2	rs149977311	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:57182520G>A	uc001nkg.2	-	10	1239	c.829C>T	c.(829-831)CGG>TGG	p.R277W	PRG2_uc001nke.2_Missense_Mutation_p.R176W|SLC43A3_uc001nkh.2_Missense_Mutation_p.R277W|SLC43A3_uc010rjr.1_Missense_Mutation_p.R290W|SLC43A3_uc009yme.2_Missense_Mutation_p.R277W|SLC43A3_uc001nki.2_Missense_Mutation_p.R277W|SLC43A3_uc009ymf.1_Missense_Mutation_p.R277W	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	277					transmembrane transport	integral to membrane				central_nervous_system(1)	1						GCAAAGCGCCGAGAGAAAGCG	0.572													A	57182520	G	A	57182520	3	1	75	1	0	0	0	0	1	0	0	0	14634	1057	37	1	666	1	SLC43A3	11	57182520	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	232892	57182520	77823996	753	52964											
CTNND1	1500	broad.mit.edu	37	chr11	57563079	57563079	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accttctatatagcaccatcCccaggatgcaggagccgggg	11	13	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:57563079C>A	uc001nmc.3	+	5	869	c.298C>A	c.(298-300)CCC>ACC	p.P100T	CTNND1_uc001nlf.1_Missense_Mutation_p.P100T|CTNND1_uc001nlh.1_Missense_Mutation_p.P100T|CTNND1_uc001nlu.3_5'UTR|CTNND1_uc001nlt.3_5'UTR|CTNND1_uc001nls.3_5'UTR|CTNND1_uc001nlw.3_5'UTR|CTNND1_uc001nmf.3_Missense_Mutation_p.P100T|CTNND1_uc001nmd.3_Missense_Mutation_p.P46T|CTNND1_uc001nlk.3_Missense_Mutation_p.P46T|CTNND1_uc001nme.3_Missense_Mutation_p.P100T|CTNND1_uc001nll.3_Missense_Mutation_p.P46T|CTNND1_uc001nmg.3_Missense_Mutation_p.P46T|CTNND1_uc001nlj.3_Missense_Mutation_p.P46T|CTNND1_uc001nlr.3_Missense_Mutation_p.P46T|CTNND1_uc001nlp.3_Missense_Mutation_p.P46T|CTNND1_uc001nlx.3_Intron|CTNND1_uc001nlz.3_Intron|CTNND1_uc009ymn.2_Intron|CTNND1_uc001nlm.3_Missense_Mutation_p.P100T|CTNND1_uc001nly.3_Intron|CTNND1_uc001nmb.3_Intron|CTNND1_uc001nma.3_Intron|CTNND1_uc001nmi.3_5'UTR|CTNND1_uc001nmh.3_Missense_Mutation_p.P100T|CTNND1_uc001nlq.3_5'UTR|CTNND1_uc001nln.3_Missense_Mutation_p.P100T|CTNND1_uc001nli.3_Missense_Mutation_p.P100T|CTNND1_uc001nlo.3_5'UTR|CTNND1_uc001nlv.3_5'UTR	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	100					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)				TAGCACCATCCCCAGGATGCA	0.468													A	57563079	C	A	57563079	3	1	75	1	0	0	0	0	1	0	0	0	4019	623	22	5	308	5	CTNND1	11	57563079	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	380559	57563079	77443437	754	52965											
OR5B12	390191	broad.mit.edu	37	chr11	58206945	58206945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggcgtccttcaggtgagCgcatcttcatgatggtgata	12	9	4	3	rs139365126		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:58206945C>T	uc010rkh.1	-	1	680	c.680G>A	c.(679-681)CGC>CAC	p.R227H		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTCAGGTGAGCGCATCTTCAT	0.403													T	58206945	C	T	58206945	3	4	75	1	0	0	0	0	1	0	0	0	11148	768	27	1	268	1	OR5B12	11	58206945	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	643866	58206945	76799571	755	52966											
FAM111B	374393	broad.mit.edu	37	chr11	58891683	58891683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcagacacatgctgacaCacctgttgatcattgtctat	8	10	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:58891683C>T	uc001nnl.2	+	4	356	c.113C>T	c.(112-114)ACA>ATA	p.T38I	FAM111B_uc001nnm.2_Missense_Mutation_p.T8I|FAM111B_uc010rko.1_Missense_Mutation_p.T8I	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	38							catalytic activity			ovary(2)	2						CATGCTGACACACCTGTTGAT	0.343													T	58891683	C	T	58891683	3	4	75	1	0	0	0	0	1	0	0	0	5400	478	17	4	119	4	FAM111B	11	58891683	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	684738	58891683	76114833	756	52967											
OR5A2	219981	broad.mit.edu	37	chr11	59190023	59190023	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgtatgggatatgaggActgtgtaaagcaaggggttg	16	2	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:59190023A>T	uc010rkt.1	-	1	404	c.404T>A	c.(403-405)GTC>GAC	p.V135D		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A,	135	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GGATATGAGGACTGTGTAAAG	0.458													T	59190023	A	T	59190023	3	4	75	1	0	0	0	0	1	0	0	0	11140	275	10	5	572	5	OR5A2	11	59190023	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	298340	59190023	75816493	757	52968											
OR10V1	390201	broad.mit.edu	37	chr11	59481150	59481150	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggaaaaagtacatgggggTgtggagggaatgattgatct	16	3	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:59481150T>C	uc001nof.1	-	1	169	c.169A>G	c.(169-171)ACC>GCC	p.T57A		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V,	57	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TACATGGGGGTGTGGAGGGAA	0.453													C	59481150	T	C	59481150	3	2	75	1	0	0	0	0	1	0	0	0	10920	1696	59	3	764	3	OR10V1	11	59481150	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	291127	59481150	75525366	758	52969											
PRPF19	27339	broad.mit.edu	37	chr11	60670301	60670301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgtgtgacagctcttggCgggttgtctgcagctgctgg	17	9	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:60670301C>T	uc001nqf.2	-	4	506	c.299G>A	c.(298-300)CGC>CAC	p.R100H		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	PRP19/PSO4 pre-mRNA processing factor 19	100					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			ovary(1)	1						CAGCTCTTGGCGGGTTGTCTG	0.592													T	60670301	C	T	60670301	3	4	75	1	0	0	0	0	1	0	0	0	12564	768	27	1	1267	1	PRPF19	11	60670301	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1189151	60670301	74336215	759	52970											
DDB1	1642	broad.mit.edu	37	chr11	61081893	61081893	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgttcttggcctgaggCtccttccattcactgaccag	9	13	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:61081893C>T	uc001nrc.3	-	13	1702	c.1476G>A	c.(1474-1476)GAG>GAA	p.E492E	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.E492E|DDB1_uc010rlg.1_RNA	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	492	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						TGGCCTGAGGCTCCTTCCATT	0.527								NER					T	61081893	C	T	61081893	2	4	75	1	0	0	0	0	0	0	0	1	4323	796	28	2		2	DDB1	11	61081893	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	411592	61081893	73924623	760	52971											
DAK	26007	broad.mit.edu	37	chr11	61111667	61111667	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcagcactctcctgggcCtggaggaacacctgaatgcc	12	13	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:61111667C>T	uc001nre.2	+	13	1419	c.1162C>T	c.(1162-1164)CTG>TTG	p.L388L	DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Silent_p.L318L	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	388	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0						TCTCCTGGGCCTGGAGGAACA	0.652													T	61111667	C	T	61111667	2	4	75	1	0	0	0	0	0	0	0	1	4228	680	24	4		4	DAK	11	61111667	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	29774	61111667	73894849	761	52972											
C11orf9	745	broad.mit.edu	37	chr11	61533551	61533551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtggaccctccccggggCgccatggtcccctcccaccc	13	20	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:61533551C>T	uc001nsc.1	+	3	352	c.256C>T	c.(256-258)CGC>TGC	p.R86C	C11orf9_uc001nse.1_Missense_Mutation_p.R77C	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	86	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						CTCCCCGGGGCGCCATGGTCC	0.736													T	61533551	C	T	61533551	3	4	75	1	0	0	0	0	1	0	0	0	1671	768	27	1	289	1	C11orf9	11	61533551	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	421884	61533551	73472965	762	52973											
EML3	256364	broad.mit.edu	37	chr11	62377133	62377133	+	Frame_Shift_Del	DEL	C	C	-													tgctcctccgagatccagggCccccagggctggagaggggg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:62377132_62377132GC>G	uc010rly.1	-	4	911	c.603_603GC>C	c.(601-603)ggcfs	p.G201fs	EML3_uc001ntr.1_Frame_Shift_Del_p.G173fs|EML3_uc001nts.1_Frame_Shift_Del_p.G173fs|EML3_uc001ntt.1_Frame_Shift_Del_p.G85fs|EML3_uc001ntu.1_Frame_Shift_Del_p.G201fs|EML3_uc009yny.1_5'UTR			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	201						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GAGATCCAGGGCCCCCAGGGC	0.577													-	62377133	C	-	62377133	7	5	75	1	0	1	0	1	0	0	0	0	5098	739	26	0	2160	0	EML3	11	62377133	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	843582	62377133	72629383	763	52974											
INTS5	80789	broad.mit.edu	37	chr11	62416784	62416784	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctactgccagctccacctccAgccccaccatggacacaaaa	5	19	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:62416784A>G	uc001nud.2	-	2	821	c.768T>C	c.(766-768)GCT>GCC	p.A256A	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	256					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						CTCCACCTCCAGCCCCACCAT	0.567													G	62416784	A	G	62416784	2	3	75	1	0	0	0	0	0	0	0	1	7781	175	7	3		3	INTS5	11	62416784	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	39651	62416784	72589732	764	52975											
BSCL2	26580	broad.mit.edu	37	chr11	62458891	62458891	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgggaagttgtatagcaggTatctgaggcaggaagtaggg	17	4	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:62458891T>C	uc001nuo.1	-	7	1098	c.674A>G	c.(673-675)TAC>TGC	p.Y225C	LRRN4CL_uc001nun.2_5'Flank|BSCL2_uc009yoc.1_Intron|BSCL2_uc001nup.2_Missense_Mutation_p.Y225C|BSCL2_uc001nuq.1_Missense_Mutation_p.Y225C|BSCL2_uc001nur.3_Missense_Mutation_p.Y289C|BSCL2_uc009yod.2_Missense_Mutation_p.Y289C|BSCL2_uc001nut.3_Missense_Mutation_p.Y289C|HNRNPUL2_uc001nuu.1_RNA	NM_032667	NP_116056	Q96G97	BSCL2_HUMAN	seipin isoform 2	225	Lumenal (Potential).				cell death	integral to endoplasmic reticulum membrane					0						GTATAGCAGGTATCTGAGGCA	0.498													C	62458891	T	C	62458891	3	2	75	1	0	0	0	0	1	0	0	0	1527	1638	57	3	542	3	BSCL2	11	62458891	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	42107	62458891	72547625	765	52976											
SLC22A6	9356	broad.mit.edu	37	chr11	62751957	62751957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctgcccctgcctgtccCggggcagccagacctccagc	12	19	0	1	rs144356509		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:62751957C>T	uc001nwk.2	-	1	513	c.206G>A	c.(205-207)CGG>CAG	p.R69Q	SLC22A6_uc001nwl.2_Missense_Mutation_p.R69Q|SLC22A6_uc001nwj.2_Missense_Mutation_p.R69Q|SLC22A6_uc001nwm.2_Missense_Mutation_p.R69Q	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	solute carrier family 22 member 6 isoform a	69	Extracellular (Potential).				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding				0						CTGCCTGTCCCGGGGCAGCCA	0.662													T	62751957	C	T	62751957	3	4	75	1	0	0	0	0	1	0	0	0	14458	652	23	1	1525	1	SLC22A6	11	62751957	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	293066	62751957	72254559	766	52977											
RPS6KA4	8986	broad.mit.edu	37	chr11	64126901	64126901	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggagaacttcgagctgcTcaaggtgctgggcacgggag	17	9	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:64126901T>C	uc001oae.2	+	2	190	c.107T>C	c.(106-108)CTC>CCC	p.L36P	RPS6KA4_uc001oad.2_Missense_Mutation_p.L36P|RPS6KA4_uc010rnl.1_Intron|RPS6KA4_uc001oaf.2_Missense_Mutation_p.L36P|RPS6KA4_uc009ypp.2_Missense_Mutation_p.L36P	NM_003942	NP_003933	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	36	Protein kinase 1.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			lung(3)|ovary(1)|breast(1)	5						TTCGAGCTGCTCAAGGTGCTG	0.697													C	64126901	T	C	64126901	3	2	75	1	0	0	0	0	1	0	0	0	13653	1551	54	3	113	3	RPS6KA4	11	64126901	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1374944	64126901	70879615	767	52978											
SLC22A12	116085	broad.mit.edu	37	chr11	64360339	64360339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggagctgctgcgtgcgGccctgcctcagacaggtgag	18	11	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:64360339G>A	uc001oam.1	+	2	1238	c.491G>A	c.(490-492)GGC>GAC	p.G164D	SLC22A12_uc009ypr.1_Missense_Mutation_p.G164D|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.G164D|SLC22A12_uc001oan.1_Missense_Mutation_p.G164D|SLC22A12_uc009ypt.2_5'Flank	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	164	Helical; (Potential).		G -> S (in RH; reduced urate transport).		cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1						GCTGCGTGCGGCCCTGCCTCA	0.632													A	64360339	G	A	64360339	3	1	75	1	0	0	0	0	1	0	0	0	14443	1203	42	2	497	2	SLC22A12	11	64360339	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	233438	64360339	70646177	768	52979											
PYGM	5837	broad.mit.edu	37	chr11	64523002	64523002	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttgcgatagccaggcacgGgcgtatcgtagggcatggcc	16	10	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:64523002G>T	uc001oax.3	-	6	1506	c.689C>A	c.(688-690)CCC>CAC	p.P230H	PYGM_uc001oay.3_Missense_Mutation_p.P142H	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	230					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	GCCAGGCACGGGCGTATCGTA	0.602													T	64523002	G	T	64523002	3	4	75	1	0	0	0	0	1	0	0	0	12862	1232	43	5	1899	5	PYGM	11	64523002	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	162663	64523002	70483514	769	52980											
CDC42BPG	55561	broad.mit.edu	37	chr11	64601436	64601436	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggaagggaatcagggagttTgagggcttggtgtctgcaaa	17	4	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:64601436T>A	uc001obs.3	-	21	2427	c.2427A>T	c.(2425-2427)TCA>TCT	p.S809S		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	809					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						TCAGGGAGTTTGAGGGCTTGG	0.592													A	64601436	T	A	64601436	2	1	75	1	0	0	0	0	0	0	0	1	3074	1799	63	5		5	CDC42BPG	11	64601436	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	78434	64601436	70405080	770	52981											
SPDYC	387778	broad.mit.edu	37	chr11	64940437	64940437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtggggactttctcatcGtcttgcctccccagatgcaa	12	12	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:64940437G>A	uc010rnz.1	+	6	799	c.799G>A	c.(799-801)GTC>ATC	p.V267I		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	speedy C	267					cell cycle	nucleus	protein kinase binding				0						CTTTCTCATCGTCTTGCCTCC	0.582													A	64940437	G	A	64940437	3	1	75	1	0	0	0	0	1	0	0	0	15027	1145	40	1	821	1	SPDYC	11	64940437	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	339001	64940437	70066079	771	52982											
FRMD8	83786	broad.mit.edu	37	chr11	65167304	65167304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccatcagtctggaaggcGtgcacgtcatcgatagcaga	13	10	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:65167304G>A	uc001odu.3	+	8	1093	c.901G>A	c.(901-903)GTG>ATG	p.V301M	FRMD8_uc009yqj.2_Missense_Mutation_p.V245M|FRMD8_uc010rof.1_Missense_Mutation_p.V267M	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	301	FERM.					cytoskeleton	binding			lung(1)|pancreas(1)	2						TCTGGAAGGCGTGCACGTCAT	0.612													A	65167304	G	A	65167304	3	1	75	1	0	0	0	0	1	0	0	0	6056	1145	40	1	927	1	FRMD8	11	65167304	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	226867	65167304	69839212	772	52983											
LTBP3	4054	broad.mit.edu	37	chr11	65314283	65314283	+	Frame_Shift_Del	DEL	C	C	-													cctcaccgcgacaggccccgCccccctggctgcggtagcca							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:65314282_65314282GC>G	uc001oej.3	-	14	2486	c.2217_2217GC>C	c.(2215-2217)ggcfs	p.G739fs	LTBP3_uc001oef.3_5'Flank|LTBP3_uc001oeg.3_5'Flank|LTBP3_uc001oeh.3_Frame_Shift_Del_p.G169fs|LTBP3_uc010roi.2_Frame_Shift_Del_p.G622fs|LTBP3_uc001oei.3_Frame_Shift_Del_p.G739fs|LTBP3_uc010roj.2_Frame_Shift_Del_p.G440fs|LTBP3_uc010rok.1_Frame_Shift_Del_p.G650fs	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	739	Cys-rich.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GACAGGCCCCGCCCCCCTGGC	0.726													-	65314283	C	-	65314283	7	5	75	1	0	1	0	1	0	0	0	0	9075	739	26	0	1751	0	LTBP3	11	65314283	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	146979	65314283	69692233	773	52984											
MAP3K11	4296	broad.mit.edu	37	chr11	65375801	65375801	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcaggagccatccaggcGtaggtgcccgcggcactcat	12	15	2	0	rs61736581	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:65375801G>A	uc001oew.2	-	2	1351	c.858C>T	c.(856-858)TAC>TAT	p.Y286Y	MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Silent_p.Y29Y|MAP3K11_uc001oex.1_Translation_Start_Site	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	286	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						CCATCCAGGCGTAGGTGCCCG	0.607													A	65375801	G	A	65375801	2	1	75	1	0	0	0	0	0	0	0	1	9245	1140	40	1		1	MAP3K11	11	65375801	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	61518	65375801	69630715	774	52985											
PCNXL3	399909	broad.mit.edu	37	chr11	65392940	65392940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttggagacagcccgggccGagcccccggaccccttgccg	14	18	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:65392940G>A	uc001oey.2	+	18	3094	c.3094G>A	c.(3094-3096)GAG>AAG	p.E1032K	PCNXL3_uc009yqn.2_5'UTR|PCNXL3_uc001oez.2_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1032						integral to membrane					0						AGCCCGGGCCGAGCCCCCGGA	0.697													A	65392940	G	A	65392940	3	1	75	1	0	0	0	0	1	0	0	0	11593	1059	37	1	3164	1	PCNXL3	11	65392940	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	17139	65392940	69613576	775	52986											
RNASEH2C	84153	broad.mit.edu	37	chr11	65487870	65487870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccccgtagacagcggcccCgaaacgacacttcgagtcct	9	17	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:65487870C>T	uc001ofn.2	-	2	371	c.191G>A	c.(190-192)CGG>CAG	p.R64Q	RNASEH2C_uc001ofm.2_RNA	NM_032193	NP_115569	Q8TDP1	RNH2C_HUMAN	ribonuclease H2, subunit C	64					RNA catabolic process	nucleus|ribonuclease H2 complex					0						ACAGCGGCCCCGAAACGACAC	0.677													T	65487870	C	T	65487870	3	4	75	1	0	0	0	0	1	0	0	0	13414	652	23	1	315	1	RNASEH2C	11	65487870	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	94930	65487870	69518646	776	52987											
SNX32	254122	broad.mit.edu	37	chr11	65617022	65617022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgacgcagtgagtgagcGggacaaggtgaaattcactg	14	7	2	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:65617022G>A	uc001ofr.2	+	2	237	c.110G>A	c.(109-111)CGG>CAG	p.R37Q	SNX32_uc009yqt.2_Missense_Mutation_p.R37Q|SNX32_uc010rop.1_Missense_Mutation_p.R37Q	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	sorting nexin 6B	37	PX.				cell communication|protein transport		phosphatidylinositol binding				0				READ - Rectum adenocarcinoma(159;0.171)		GTGAGTGAGCGGGACAAGGTG	0.612													A	65617022	G	A	65617022	3	1	75	1	0	0	0	0	1	0	0	0	14902	1116	39	1	116	1	SNX32	11	65617022	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	129152	65617022	69389494	777	52988											
EIF1AD	84285	broad.mit.edu	37	chr11	65767776	65767776	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccccacgccactcacccTgacaatctgctgctggtcgg	10	17	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:65767776T>C	uc001ogm.1	-	2	370	c.85A>G	c.(85-87)AGG>GGG	p.R29G	EIF1AD_uc001ogn.1_Missense_Mutation_p.R29G|BANF1_uc001ogo.2_5'Flank|BANF1_uc001ogp.2_5'Flank	NM_032325	NP_115701	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A	29	S1-like.					nucleus	translation initiation factor activity				0						CCACTCACCCTGACAATCTGC	0.632													C	65767776	T	C	65767776	3	2	75	1	0	0	0	0	1	0	0	0	4991	1579	55	3	432	3	EIF1AD	11	65767776	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	150754	65767776	69238740	778	52989											
RIN1	9610	broad.mit.edu	37	chr11	66099764	66099764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctactcctctgctgcccGgcttccctctgcctctggtt	8	17	3	0	rs144651587	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:66099764G>A	uc001ohn.1	-	10	2462	c.2335C>T	c.(2335-2337)CGG>TGG	p.R779W	RIN1_uc010roy.1_Missense_Mutation_p.R410W|RIN1_uc009yrd.1_Missense_Mutation_p.R472W|RIN1_uc010roz.1_Missense_Mutation_p.R674W|RIN1_uc010rpa.1_Missense_Mutation_p.R613W	NM_004292	NP_004283	Q13671	RIN1_HUMAN	ras inhibitor RIN1	779					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			lung(2)|breast(1)	3						TCTGCTGCCCGGCTTCCCTCT	0.622													A	66099764	G	A	66099764	3	1	75	1	0	0	0	0	1	0	0	0	13371	1115	39	1	20	1	RIN1	11	66099764	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	331988	66099764	68906752	779	52990											
SLC29A2	3177	broad.mit.edu	37	chr11	66136983	66136983	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgctgttgccggccccGgccagtcgcgcctggaagta	15	14	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:66136983G>T	uc001oht.2	-	3	361	c.132C>A	c.(130-132)GCC>GCA	p.A44A	SLC29A2_uc001ohs.2_5'UTR|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_5'UTR|SLC29A2_uc001ohu.2_Silent_p.A44A|SLC29A2_uc001ohv.2_Silent_p.A44A|uc001ohw.1_RNA	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	44					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1						TGCCGGCCCCGGCCAGTCGCG	0.552													T	66136983	G	T	66136983	2	4	75	1	0	0	0	0	0	0	0	1	14535	1103	39	5		5	SLC29A2	11	66136983	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	37219	66136983	68869533	780	52991											
RBM4B	83759	broad.mit.edu	37	chr11	66436507	66436507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cataagagcggacccggtatCgcttatagtagtcgagtgct	12	9	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:66436507C>T	uc001oja.2	-	2	1337	c.668G>A	c.(667-669)CGA>CAA	p.R223Q	RBM4B_uc001ojb.2_Missense_Mutation_p.R223Q	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	223	Interaction with TNPO3 (By similarity).				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding				0						GACCCGGTATCGCTTATAGTA	0.507													T	66436507	C	T	66436507	3	4	75	1	0	0	0	0	1	0	0	0	13142	884	31	1	415	1	RBM4B	11	66436507	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	299524	66436507	68570009	781	52992											
PC	5091	broad.mit.edu	37	chr11	66616805	66616805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtcgctcacggccagggCtttgatgtgcagcgtcttgc	14	12	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:66616805C>T	uc001ojn.1	-	20	3233	c.3184G>A	c.(3184-3186)GCC>ACC	p.A1062T	PC_uc001ojo.1_Missense_Mutation_p.A1062T|PC_uc001ojp.1_Missense_Mutation_p.A1062T|PC_uc001ojm.1_Missense_Mutation_p.A51T	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	1062					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ACGGCCAGGGCTTTGATGTGC	0.652													T	66616805	C	T	66616805	3	4	75	1	0	0	0	0	1	0	0	0	11497	797	28	2	360	2	PC	11	66616805	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	180298	66616805	68389711	782	52993											
ADRBK1	156	broad.mit.edu	37	chr11	67051736	67051736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccctcaccatctcggagCggtggcagcaggaggtggca	14	14	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:67051736C>T	uc009yrn.1	+	18	1812	c.1546C>T	c.(1546-1548)CGG>TGG	p.R516W	ADRBK1_uc009yrm.1_Intron	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	516	AGC-kinase C-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CATCTCGGAGCGGTGGCAGCA	0.592													T	67051736	C	T	67051736	3	4	75	1	0	0	0	0	1	0	0	0	343	759	27	1	1616	1	ADRBK1	11	67051736	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	434931	67051736	67954780	783	52994											
RAD9A	5883	broad.mit.edu	37	chr11	67163272	67163272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccgcagggtcatcctgCgcagctaccacgaggaggag	16	12	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:67163272C>T	uc001okr.2	+	6	628	c.535C>T	c.(535-537)CGC>TGC	p.R179C	RAD9A_uc001oks.2_Missense_Mutation_p.R36C	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	RAD9 homolog	179					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding				0			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GGTCATCCTGCGCAGCTACCA	0.662								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					T	67163272	C	T	67163272	3	4	75	1	0	0	0	0	1	0	0	0	12995	768	27	1	557	1	RAD9A	11	67163272	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	111536	67163272	67843244	784	52995											
LRP5	4041	broad.mit.edu	37	chr11	68201164	68201164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgacggctttcccgagtgCgatgaccagagcgacgagga	15	10	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:68201164C>T	uc001ont.2	+	18	3933	c.3858C>T	c.(3856-3858)TGC>TGT	p.C1286C	LRP5_uc009ysg.2_Silent_p.C696C	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1286	LDL-receptor class A 1.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						TTCCCGAGTGCGATGACCAGA	0.711													T	68201164	C	T	68201164	2	4	75	1	0	0	0	0	0	0	0	1	8960	776	27	1		1	LRP5	11	68201164	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1037892	68201164	66805352	785	52996											
ANO1	55107	broad.mit.edu	37	chr11	70033855	70033855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttccagaacctggtcatGttcatgagcgactttgtgga	10	10	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:70033855G>A	uc001opj.2	+	26	3011	c.2706G>A	c.(2704-2706)ATG>ATA	p.M902I	ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.M611I|ANO1_uc010rql.1_Missense_Mutation_p.M76I	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	902	Helical; (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						ACCTGGTCATGTTCATGAGCG	0.592													A	70033855	G	A	70033855	3	1	75	1	0	0	0	0	1	0	0	0	695	1377	48	4	2808	4	ANO1	11	70033855	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1832691	70033855	64972661	786	52997											
ARHGEF17	9828	broad.mit.edu	37	chr11	73076913	73076913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagggacacaccggccaCgtccgcttcttggctgcagt	13	15	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:73076913C>T	uc001otu.2	+	20	5937	c.5916C>T	c.(5914-5916)CAC>CAT	p.H1972H		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1972					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						ACACCGGCCACGTCCGCTTCT	0.652													T	73076913	C	T	73076913	2	4	75	1	0	0	0	0	0	0	0	1	900	535	19	1		1	ARHGEF17	11	73076913	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3043058	73076913	61929603	787	52998											
B3GNT6	192134	broad.mit.edu	37	chr11	76751257	76751257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgcgctttctgctcagcgGcgacgacgacgtgttcgtgc	14	14	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:76751257G>A	uc001oxw.2	+	2	750	c.662G>A	c.(661-663)GGC>GAC	p.G221D		NM_138706	NP_619651	Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal	221	Lumenal (Potential).				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity				0						CTGCTCAGCGGCGACGACGAC	0.677													A	76751257	G	A	76751257	3	1	75	1	0	0	0	0	1	0	0	0	1261	1203	42	2	664	2	B3GNT6	11	76751257	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	3674344	76751257	58255259	788	52999											
ODZ4	26011	broad.mit.edu	37	chr11	78412903	78412903	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtatcaaacagatagagCtcctggtcaattggtgaaga	12	6	2	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:78412903C>T	uc001ozl.3	-	28	5218	c.4755G>A	c.(4753-4755)GAG>GAA	p.E1585E	ODZ4_uc009yvb.1_Silent_p.E169E	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1585	Extracellular (Potential).|YD 1.				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						ACAGATAGAGCTCCTGGTCAA	0.517													T	78412903	C	T	78412903	2	4	75	1	0	0	0	0	0	0	0	1	10837	796	28	2		2	ODZ4	11	78412903	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1661646	78412903	56593613	789	53000											
SYTL2	54843	broad.mit.edu	37	chr11	85411568	85411568	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattacataccagggactggCtctgggacatactggagagc	12	10	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:85411568C>T	uc010rth.1	-	15	2619	c.2343G>A	c.(2341-2343)GAG>GAA	p.E781E	SYTL2_uc010rtg.1_Silent_p.E782E|SYTL2_uc010rti.1_Silent_p.E757E|SYTL2_uc010rtj.1_Silent_p.E749E|SYTL2_uc001pav.2_Silent_p.E223E|SYTL2_uc010rte.1_Silent_p.E183E|SYTL2_uc001pax.2_Silent_p.E223E|SYTL2_uc001paz.2_Silent_p.E102E|SYTL2_uc001pba.2_Silent_p.E166E|SYTL2_uc001pay.2_Silent_p.E212E|SYTL2_uc001paw.2_Silent_p.E183E|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Silent_p.E1079E|SYTL2_uc001pbb.2_Silent_p.E1119E|SYTL2_uc001pbc.2_Silent_p.E1103E|SYTL2_uc010rtf.1_Silent_p.E599E	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	781	C2 2.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CAGGGACTGGCTCTGGGACAT	0.448													T	85411568	C	T	85411568	2	4	75	1	0	0	0	0	0	0	0	1	15480	796	28	2		2	SYTL2	11	85411568	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	6998665	85411568	49594948	790	53001											
EED	8726	broad.mit.edu	37	chr11	85975274	85975274	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcaatatttggaggcgTagaagggcacagagatgaag	17	4	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:85975274T>C	uc001pbp.2	+	7	1152	c.695T>C	c.(694-696)GTA>GCA	p.V232A	EED_uc010rtm.1_Missense_Mutation_p.V232A|EED_uc001pbq.2_Missense_Mutation_p.V232A|EED_uc001pbr.2_Missense_Mutation_p.V232A|EED_uc001pbs.2_Missense_Mutation_p.V232A|EED_uc010rtn.1_RNA	NM_003797	NP_003788	O75530	EED_HUMAN	embryonic ectoderm development isoform a	232	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			skin(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TTTGGAGGCGTAGAAGGGCAC	0.398													C	85975274	T	C	85975274	3	2	75	1	0	0	0	0	1	0	0	0	4922	1638	57	3	721	3	EED	11	85975274	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	563706	85975274	49031242	791	53002											
FZD4	8322	broad.mit.edu	37	chr11	86662374	86662374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattttcaacatttcaacaGccatgttggaatcatctgca	5	9	4	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:86662374G>A	uc001pce.2	-	2	1730	c.1424C>T	c.(1423-1425)GCT>GTT	p.A475V	PRSS23_uc001pcc.1_RNA	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	frizzled 4 precursor	475	Extracellular (Potential).				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CATTTCAACAGCCATGTTGGA	0.423													A	86662374	G	A	86662374	3	1	75	1	0	0	0	0	1	0	0	0	6132	971	34	2	193	2	FZD4	11	86662374	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	687100	86662374	48344142	792	53003											
NOX4	50507	broad.mit.edu	37	chr11	89177323	89177323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatctcggtatcttgctgCattcagttcaacaaagtctt	6	11	6	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:89177323C>T	uc001pct.2	-	5	666	c.427G>A	c.(427-429)GCA>ACA	p.A143T	NOX4_uc009yvr.2_Missense_Mutation_p.A118T|NOX4_uc001pcu.2_Missense_Mutation_p.A69T|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Missense_Mutation_p.A143T|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Intron|NOX4_uc009yvp.2_Missense_Mutation_p.A143T|NOX4_uc010rtv.1_Missense_Mutation_p.A119T|NOX4_uc009yvq.2_Missense_Mutation_p.A119T|NOX4_uc009yvs.1_RNA	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a	143	Extracellular (Potential).|Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TATCTTGCTGCATTCAGTTCA	0.448													T	89177323	C	T	89177323	3	4	75	1	0	0	0	0	1	0	0	0	10558	710	25	2	1365	2	NOX4	11	89177323	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2514949	89177323	45829193	793	53004											
FAT3	120114	broad.mit.edu	37	chr11	92533963	92533963	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattgttgtggatgaaaatgAcaatgctccccagttcatga	10	7	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:92533963A>G	uc001pdj.3	+	9	7801	c.7784A>G	c.(7783-7785)GAC>GGC	p.D2595G		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2595	Cadherin 23.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GATGAAAATGACAATGCTCCC	0.478										TCGA Ovarian(4;0.039)			G	92533963	A	G	92533963	3	3	75	1	0	0	0	0	1	0	0	0	5691	275	10	3	7818	3	FAT3	11	92533963	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	3356640	92533963	42472553	794	53005											
TAF1D	79101	broad.mit.edu	37	chr11	93471428	93471428	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttccccgtggtcttccTgttggctggtacctcctctt	10	14	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:93471428T>A	uc001ped.2	-	3	508	c.306A>T	c.(304-306)ACA>ACT	p.T102T	SNORA8_uc001pec.2_5'Flank|TAF1D_uc001pdz.2_RNA|TAF1D_uc001pea.1_RNA	NM_024116	NP_077021	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding				0						GTGGTCTTCCTGTTGGCTGGT	0.358													A	93471428	T	A	93471428	2	1	75	1	0	0	0	0	0	0	0	1	15519	1567	55	5		5	TAF1D	11	93471428	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	937465	93471428	41535088	795	53006											
MRE11A	4361	broad.mit.edu	37	chr11	94197320	94197320	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgcctgaaaaaatggataAtgtcttttggattagctacc	8	6	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:94197320A>G	uc001peu.2	-	11	1373	c.1184T>C	c.(1183-1185)ATT>ACT	p.I395T	MRE11A_uc001pev.2_Missense_Mutation_p.I395T|MRE11A_uc009ywj.2_Missense_Mutation_p.I398T	NM_005591	NP_005582	P49959	MRE11_HUMAN	meiotic recombination 11 homolog A isoform 1	395					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(4)|lung(1)	5		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				AAAATGGATAATGTCTTTTGG	0.348								Homologous_recombination	Ataxia-Telangiectasia-Like_Disorder				G	94197320	A	G	94197320	3	3	75	1	0	0	0	0	1	0	0	0	9759	101	4	3	982	3	MRE11A	11	94197320	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	725892	94197320	40809196	796	53007											
MTMR2	8898	broad.mit.edu	37	chr11	95580894	95580894	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccttaatatgttctagcCaatgagtagattccaagtta	6	9	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:95580894C>T	uc001pfu.2	-	10	1416	c.1163G>A	c.(1162-1164)TGG>TAG	p.W388*	MTMR2_uc001pfv.2_Nonsense_Mutation_p.W316*|MTMR2_uc001pfs.2_Nonsense_Mutation_p.W316*|MTMR2_uc001pft.2_Nonsense_Mutation_p.W316*|MTMR2_uc010ruj.1_Nonsense_Mutation_p.W371*	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	388	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATGTTCTAGCCAATGAGTAGA	0.353													T	95580894	C	T	95580894	4	4	75	1	0	0	0	0	0	1	0	0	9944	595	21	4	792	4	MTMR2	11	95580894	Nonsense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1383574	95580894	39425622	797	53008											
CNTN5	53942	broad.mit.edu	37	chr11	99944909	99944909	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcactgaatcaactgaAgaaaacaataattgttacca	5	7	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:99944909A>C	uc001pga.2	+	13	1802	c.1463A>C	c.(1462-1464)AAG>ACG	p.K488T	CNTN5_uc009ywv.1_Missense_Mutation_p.K488T|CNTN5_uc001pfz.2_Missense_Mutation_p.K488T|CNTN5_uc001pgb.2_Missense_Mutation_p.K414T	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	488	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AATCAACTGAAGAAAACAATA	0.388													C	99944909	A	C	99944909	3	2	75	1	0	0	0	0	1	0	0	0	3644	72	3	5	1505	5	CNTN5	11	99944909	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	4364015	99944909	35061607	798	53009											
BIRC3	330	broad.mit.edu	37	chr11	102195491	102195491	+	Frame_Shift_Del	DEL	A	A	-													aagaggagacagtcctactgAaaagcataaaaagttgtatc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:102195490_102195490GA>G	uc001pgx.3	+	1	3045	c.250_250GA>G	c.(250-252)gaafs	p.E84fs		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Homo sapiens baculoviral IAP repeat containing 3 (BIRC3), transcript variant 2, mRNA.	84					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		CAGTCCTACTGAAAAGCATAA	0.428			T	MALT1	MALT								-	102195491	A	-	102195491	7	5	75	1	0	1	0	1	0	0	0	0	1436	246	9	0	253	0	BIRC3	11	102195491	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	2250582	102195491	32811025	799	53010											
MMP8	4317	broad.mit.edu	37	chr11	102593283	102593283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcctcatttggcttccccGtcacattcaacccaaaaaat	3	14	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:102593283G>A	uc001phe.2	-	2	323	c.224C>T	c.(223-225)ACG>ATG	p.T75M	MMP8_uc010rut.1_Missense_Mutation_p.T10M|MMP8_uc010ruu.1_Missense_Mutation_p.T52M	NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	75					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		TGGCTTCCCCGTCACATTCAA	0.448													A	102593283	G	A	102593283	3	1	75	1	0	0	0	0	1	0	0	0	9668	1145	40	1	1215	1	MMP8	11	102593283	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	397792	102593283	32413233	800	53011											
DYNC2H1	79659	broad.mit.edu	37	chr11	102988484	102988484	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtgaacagtgggtgatagtCtgtaatcatctaacaggtca	11	6	4	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:102988484C>T	uc001pho.2	+	6	1035	c.891C>T	c.(889-891)GTC>GTT	p.V297V	DYNC2H1_uc001phn.1_Silent_p.V297V|DYNC2H1_uc009yxe.1_Silent_p.V297V	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	297	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GGGTGATAGTCTGTAATCATC	0.393													T	102988484	C	T	102988484	2	4	75	1	0	0	0	0	0	0	0	1	4846	900	32	4		4	DYNC2H1	11	102988484	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	395201	102988484	32018032	801	53012											
DYNC2H1	79659	broad.mit.edu	37	chr11	103194690	103194690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcctgccaatatcgctcGctcatctcagcgcatgatca	7	15	4	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:103194690G>A	uc001pho.2	+	82	12155	c.12011G>A	c.(12010-12012)CGC>CAC	p.R4004H	DYNC2H1_uc001phn.1_Missense_Mutation_p.R4011H|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4004					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AATATCGCTCGCTCATCTCAG	0.388													A	103194690	G	A	103194690	3	1	75	1	0	0	0	0	1	0	0	0	4846	1087	38	1	12362	1	DYNC2H1	11	103194690	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	206206	103194690	31811826	802	53013											
DYNC2H1	79659	broad.mit.edu	37	chr11	103270461	103270461	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctccaatactgtcattcaTcattcttgaacaatttaatg	3	9	5	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:103270461T>C	uc001pho.2	+	84	12371	c.12227T>C	c.(12226-12228)ATC>ACC	p.I4076T	DYNC2H1_uc001phn.1_Missense_Mutation_p.I4083T|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4076					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTGTCATTCATCATTCTTGAA	0.368													C	103270461	T	C	103270461	3	2	75	1	0	0	0	0	1	0	0	0	4846	1435	50	3	12586	3	DYNC2H1	11	103270461	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	75771	103270461	31736055	803	53014											
PDGFD	80310	broad.mit.edu	37	chr11	103797725	103797725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacaatttcctccacagCgctgcacgaggaggcaacgt	10	14	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:103797725C>T	uc001phq.2	-	6	1274	c.902G>A	c.(901-903)CGC>CAC	p.R301H	PDGFD_uc001php.2_Missense_Mutation_p.R295H	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	301					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TCCTCCACAGCGCTGCACGAG	0.473													T	103797725	C	T	103797725	3	4	75	1	0	0	0	0	1	0	0	0	11660	768	27	1	218	1	PDGFD	11	103797725	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	527264	103797725	31208791	804	53015											
CASP1	834	broad.mit.edu	37	chr11	104901070	104901070	+	Frame_Shift_Del	DEL	T	T	-													aacttaccgaagcagtgagaTtttttttcacatctacgctg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:104901069_104901069AT>A	uc001pim.4	-	4	615	c.615_615AT>T	c.(613-615)aatfs	p.N205fs	CASP1_uc001pig.3_Frame_Shift_Del_p.N112fs|CASP1_uc021qpq.1_Frame_Shift_Del_p.N184fs|CASP1_uc021qpr.1_Frame_Shift_Del_p.N112fs|CASP1_uc021qps.1_Intron|CASP1_uc021qpp.1_Frame_Shift_Del_p.N205fs|CASP1_uc021qpt.1_Frame_Shift_Del_p.N112fs|CASP1_uc010rve.2_Frame_Shift_Del_p.N205fs|CASP1_uc010rvf.2_Frame_Shift_Del_p.N112fs|CASP1_uc010rvg.2_Frame_Shift_Del_p.N184fs|CASP1_uc010rvh.2_Frame_Shift_Del_p.N112fs|CASP1_uc010rvi.2_Intron|CASP1_uc009yxi.3_Frame_Shift_Del_p.N184fs|CASP1_uc021qpu.1_Frame_Shift_Del_p.N112fs|CASP1_uc021qpv.1_Frame_Shift_Del_p.N184fs|CASP1_uc021qpw.1_Frame_Shift_Del_p.N112fs|CASP1_uc021qpx.1_Intron|CASP1_uc010rvj.2_Frame_Shift_Del_p.N205fs|CASP1_uc009yxj.3_Frame_Shift_Del_p.N50fs|CASP1_uc010rvk.2_Frame_Shift_Del_p.N166fs	NM_033292	NP_150634	P29466	CASP1_HUMAN	Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	205					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	p.N205I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	AAGCAGTGAGATTTTTTTTCA	0.378													-	104901070	T	-	104901070	7	5	75	1	0	1	0	1	0	0	0	0	2668	1493	52	0	620	0	CASP1	11	104901070	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	1103345	104901070	30105446	805	53016											
ATM	472	broad.mit.edu	37	chr11	108114817	108114817	+	Frame_Shift_Del	DEL	T	T	-													taaattccaaatttttggacTttttttccaaggctattcag							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:108114816_108114816CT>C	uc001pkb.1	+	5	1018	c.633_633CT>C	c.(631-633)gacfs	p.D211fs	ATM_uc009yxr.1_Frame_Shift_Del_p.D211fs	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	211					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AATTTTTGGACTTTTTTTCCA	0.343			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			-	108114817	T	-	108114817	7	5	75	1	0	1	0	1	0	0	0	0	1109	1609	56	0	652	0	ATM	11	108114817	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	3213747	108114817	26891699	806	53017											
NCAM1	4684	broad.mit.edu	37	chr11	113103872	113103872	+	Frame_Shift_Del	DEL	C	C	-													atgtgtcttccccacagacaCcccctcttcaccatccatcg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:113103871_113103871AC>A	uc021qqp.1	+	13	1969	c.1597_1597AC>A	c.(1597-1599)accfs	p.T533fs	NCAM1_uc001pnp.3_Frame_Shift_Del_p.T497fs|NCAM1_uc021qqo.1_Frame_Shift_Del_p.T497fs|NCAM1_uc001pnq.3_Frame_Shift_Del_p.T507fs|NCAM1_uc001pnr.3_Frame_Shift_Del_p.T497fs	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	509	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CCCCACAGACACCCCCTCTTC	0.547													-	113103872	C	-	113103872	7	5	75	1	0	1	0	1	0	0	0	0	10202	507	18	0	1577	0	NCAM1	11	113103872	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	4989055	113103872	21902644	807	53018											
FAM55A	120400	broad.mit.edu	37	chr11	114400914	114400914	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtggaaaaggctgttTtccttgtctgtaagataaga	10	7	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:114400914T>A	uc001ppa.2	-	3	807	c.390A>T	c.(388-390)GAA>GAT	p.E130D	FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.E272D	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	272						extracellular region					0		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		AAAGGCTGTTTTCCTTGTCTG	0.458													A	114400914	T	A	114400914	3	1	75	1	0	0	0	0	1	0	0	0	5584	1838	64	5	843	5	FAM55A	11	114400914	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1297042	114400914	20605602	808	53019											
CADM1	23705	broad.mit.edu	37	chr11	115088664	115088664	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcgcgtccccttcccgggTtaagccttgtagaggataag	12	11	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:115088664T>G	uc001ppi.3	-	6	898	c.769A>C	c.(769-771)ACC>CCC	p.T257P	CADM1_uc001ppf.3_Missense_Mutation_p.T257P|CADM1_uc001ppk.3_Missense_Mutation_p.T257P|CADM1_uc001ppj.3_Missense_Mutation_p.T257P|CADM1_uc001ppl.2_Missense_Mutation_p.T257P|CADM1_uc001pph.3_Missense_Mutation_p.T9P	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	257	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			ovary(2)	2	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CCTTCCCGGGTTAAGCCTTGT	0.453													G	115088664	T	G	115088664	3	3	75	1	0	0	0	0	1	0	0	0	2566	1725	60	5	579	5	CADM1	11	115088664	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	687750	115088664	19917852	809	53020											
SCN2B	6327	broad.mit.edu	37	chr11	118047107	118047107	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagagactgagccccgtgaGgctgaaggcagggcgaggta	17	8	0	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:118047107G>T	uc001psf.2	-	1	231	c.40C>A	c.(40-42)CTC>ATC	p.L14I		NM_004588	NP_004579	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta	14					synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity				0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		AGCCCCGTGAGGCTGAAGGCA	0.552													T	118047107	G	T	118047107	3	4	75	1	0	0	0	0	1	0	0	0	13917	1000	35	5	623	5	SCN2B	11	118047107	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2958443	118047107	16959409	810	53021											
NLRX1	79671	broad.mit.edu	37	chr11	119044381	119044381	+	Frame_Shift_Del	DEL	C	C	-													cagccaccccaggccgggctCcccccactggccttgtctca							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:119044380_119044380TC>T	uc001pvu.3	+	4	637	c.422_422TC>T	c.(421-423)ctcfs	p.L141fs	NLRX1_uc010rzc.1_5'UTR|NLRX1_uc001pvv.3_Frame_Shift_Del_p.L141fs|NLRX1_uc001pvw.3_Frame_Shift_Del_p.L141fs|NLRX1_uc001pvx.3_Frame_Shift_Del_p.L141fs	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	141	Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CAGGCCGGGCTCCCCCCACTG	0.657													-	119044381	C	-	119044381	7	5	75	1	0	1	0	1	0	0	0	0	10485	842	30	0	437	0	NLRX1	11	119044381	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	997274	119044381	15962135	811	53022											
OR10G7	390265	broad.mit.edu	37	chr11	123909037	123909037	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgaggtgcggatccgcagGatggaacagacgatggacac	15	9	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:123909037G>A	uc001pzq.1	-	1	672	c.672C>T	c.(670-672)ATC>ATT	p.I224I		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G,	224	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGATCCGCAGGATGGAACAGA	0.537													A	123909037	G	A	123909037	2	1	75	1	0	0	0	0	0	0	0	1	10902	1164	41	4		4	OR10G7	11	123909037	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	4864656	123909037	11097479	812	53023											
VWA5A	4013	broad.mit.edu	37	chr11	124007944	124007944	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccaattctgttgggtgcTtctgccccattgaagataaa	10	9	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:124007944T>C	uc001pzu.2	+	15	2057	c.1848T>C	c.(1846-1848)GCT>GCC	p.A616A	VWA5A_uc001pzt.2_Silent_p.A616A	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	616										upper_aerodigestive_tract(1)|ovary(1)	2						TGTTGGGTGCTTCTGCCCCAT	0.423													C	124007944	T	C	124007944	2	2	75	1	0	0	0	0	0	0	0	1	17239	1596	56	3		3	VWA5A	11	124007944	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	98907	124007944	10998572	813	53024											
ROBO4	54538	broad.mit.edu	37	chr11	124765380	124765380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcagcctcaggagcagcaCgttgctgtcagggcctcgag	15	13	2	0	rs140504916		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:124765380C>T	uc001qbg.2	-	6	1149	c.1009G>A	c.(1009-1011)GTG>ATG	p.V337M	ROBO4_uc010sas.1_Missense_Mutation_p.V192M|ROBO4_uc001qbh.2_Missense_Mutation_p.V227M|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	337	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGGAGCAGCACGTTGCTGTCA	0.607													T	124765380	C	T	124765380	3	4	75	1	0	0	0	0	1	0	0	0	13516	536	19	1	2066	1	ROBO4	11	124765380	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	757436	124765380	10241136	814	53025											
CCDC15	80071	broad.mit.edu	37	chr11	124908371	124908371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttatgctgcagagcagaGgatcctaagaatgaactttc	10	7	0	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:124908371G>A	uc001qbm.3	+	14	2715	c.2456G>A	c.(2455-2457)AGG>AAG	p.R819K		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	819						centrosome				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		GCAGAGCAGAGGATCCTAAGA	0.308													A	124908371	G	A	124908371	3	1	75	1	0	0	0	0	1	0	0	0	2784	1000	35	4	2506	4	CCDC15	11	124908371	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	142991	124908371	10098145	815	53026											
FEZ1	9638	broad.mit.edu	37	chr11	125359542	125359542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaaaaattctcaagctcGgagagggaggggtcctcgag	15	7	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:125359542G>A	uc001qbx.2	-	2	284	c.132C>T	c.(130-132)TCC>TCT	p.S44S	FEZ1_uc010sbc.1_Silent_p.S44S|FEZ1_uc001qby.1_Silent_p.S44S	NM_005103	NP_005094	Q99689	FEZ1_HUMAN	zygin 1 isoform 1	44					axon guidance|cell adhesion|transport	microtubule|plasma membrane				central_nervous_system(3)|ovary(1)	4	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TCTCAAGCTCGGAGAGGGAGG	0.502													A	125359542	G	A	125359542	2	1	75	1	0	0	0	0	0	0	0	1	5823	1103	39	1		1	FEZ1	11	125359542	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	451171	125359542	9646974	816	53027											
CDON	50937	broad.mit.edu	37	chr11	125889551	125889551	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattttccccggattttataGcgcacctcagctttggggtt	9	11	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:125889551G>A	uc009zbw.2	-	4	587	c.459C>T	c.(457-459)CGC>CGT	p.R153R	CDON_uc001qdc.3_Silent_p.R153R|CDON_uc001qdd.3_RNA|CDON_uc009zbx.2_Silent_p.R153R	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	153	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GGATTTTATAGCGCACCTCAG	0.443													A	125889551	G	A	125889551	2	1	75	1	0	0	0	0	0	0	0	1	3170	958	34	2		2	CDON	11	125889551	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	530009	125889551	9116965	817	53028											
SRPR	6734	broad.mit.edu	37	chr11	126133915	126133915	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgggtttgcttgtgatgtAcgtcatagaaatagcagctc	12	6	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:126133915A>G	uc001qdh.2	-	14	1864	c.1813T>C	c.(1813-1815)TAC>CAC	p.Y605H	SRPR_uc010sbm.1_Missense_Mutation_p.Y577H	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	605					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CTTGTGATGTACGTCATAGAA	0.547													G	126133915	A	G	126133915	3	3	75	1	0	0	0	0	1	0	0	0	15161	391	14	3	107	3	SRPR	11	126133915	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	244364	126133915	8872601	818	53029											
C11orf45	219833	broad.mit.edu	37	chr11	128774338	128774338	+	Frame_Shift_Del	DEL	C	C	-													ctcattacctgttggagtcaCctggggccagattctgggac							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:128774337_128774337AC>A	uc001qeu.3	-	1	319	c.125_125GT>T	c.(124-126)gtgfs	p.V42fs	KCNJ5_uc001qet.3_Intron|KCNJ5_uc009zck.3_Intron|C11orf45_uc009zcl.3_Frame_Shift_Del_p.V42fs|C11orf45_uc001qev.3_Frame_Shift_Del_p.V42fs	NM_145013	NP_659450	Q8TAV5	CK045_HUMAN	Homo sapiens chromosome 11 open reading frame 45 (C11orf45), transcript variant 2, mRNA.	42						extracellular region				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		TGTTGGAGTCACCTGGGGCCA	0.567													-	128774338	C	-	128774338	7	5	75	1	0	1	0	1	0	0	0	0	1642	507	18	0	325	0	C11orf45	11	128774338	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	2640423	128774338	6232178	819	53030											
NTM	50863	broad.mit.edu	37	chr11	132184590	132184590	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacaccaatgccagcatcatGctatttggtgagactgtgct	9	11	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:132184590G>C	uc001qgp.2	+	6	1591	c.927G>C	c.(925-927)ATG>ATC	p.M309I	NTM_uc001qgm.2_Missense_Mutation_p.M309I|NTM_uc010sch.1_Missense_Mutation_p.M300I|NTM_uc010sci.1_Missense_Mutation_p.M309I|NTM_uc010scj.1_Missense_Mutation_p.M268I|NTM_uc001qgo.2_Missense_Mutation_p.M309I|NTM_uc001qgq.2_Missense_Mutation_p.M309I|NTM_uc001qgr.2_Missense_Mutation_p.M91I	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	309	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						CCAGCATCATGCTATTTGGTG	0.552													C	132184590	G	C	132184590	3	2	75	1	0	0	0	0	1	0	0	0	10699	1319	46	5	1035	5	NTM	11	132184590	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	3410252	132184590	2821926	820	53031											
SPATA19	219938	broad.mit.edu	37	chr11	133714492	133714492	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccctgggaagggtggttgAtggacagcttttcctttatg	13	8	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:133714492A>G	uc001qgv.1	-	3	230	c.179T>C	c.(178-180)ATC>ACC	p.I60T		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19 precursor	60					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane					0	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		AGGGTGGTTGATGGACAGCTT	0.517													G	133714492	A	G	133714492	3	3	75	1	0	0	0	0	1	0	0	0	15003	333	12	3	340	3	SPATA19	11	133714492	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1529902	133714492	1292024	821	53032											
ACAD8	27034	broad.mit.edu	37	chr11	134126459	134126459	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagcttccatgggacttaatGaagagcagaaagaatttcaa	9	7	1	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:134126459G>A	uc001qhk.2	+	2	188	c.127G>A	c.(127-129)GAA>AAA	p.E43K	ACAD8_uc009zdc.2_Missense_Mutation_p.M1I|ACAD8_uc010sco.1_Missense_Mutation_p.M1I|ACAD8_uc010scp.1_RNA|ACAD8_uc010scq.1_Intron|ACAD8_uc001qhl.2_Intron|ACAD8_uc010scr.1_Missense_Mutation_p.E5K|ACAD8_uc009zde.1_5'Flank	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	acyl-Coenzyme A dehydrogenase family, member 8	43					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding				0	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		GGGACTTAATGAAGAGCAGAA	0.473													A	134126459	G	A	134126459	3	1	75	1	0	0	0	0	1	0	0	0	110	1291	45	4	133	4	ACAD8	11	134126459	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	411967	134126459	880057	822	53033											
KDM5A	5927	broad.mit.edu	37	chr12	443491	443491	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acattcccacatagagccacGgcactttcataccagagatg	7	13	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:443491G>T	uc001qif.1	-	11	1769	c.1406C>A	c.(1405-1407)CCG>CAG	p.P469Q	KDM5A_uc001qie.1_Missense_Mutation_p.P469Q|KDM5A_uc010sdn.1_Missense_Mutation_p.P428Q|KDM5A_uc010sdo.1_Missense_Mutation_p.P88Q	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	469	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						ATAGAGCCACGGCACTTTCAT	0.418			T 	NUP98	AML								T	443491	G	T	443491	3	4	75	1	0	0	0	0	1	0	0	0	8133	1116	39	5	3738	5	KDM5A	12	443491	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08		443491	133408404	823	53034											
FBXL14	144699	broad.mit.edu	37	chr12	1702997	1702997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacgtagctgaggctgcggCggaggctcaggatctgcacc	15	12	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:1702997C>T	uc001qjh.2	-	1	335	c.236G>A	c.(235-237)CGC>CAC	p.R79H	WNT5B_uc009zdq.2_Intron|FBXL14_uc001qji.2_5'Flank	NM_152441	NP_689654	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	79						cytoplasm				ovary(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			GAGGCTGCGGCGGAGGCTCAG	0.692													T	1702997	C	T	1702997	3	4	75	1	0	0	0	0	1	0	0	0	5710	768	27	1	1028	1	FBXL14	12	1702997	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1259506	1702997	132148898	824	53035											
CACNA1C	775	broad.mit.edu	37	chr12	2706448	2706448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattttcaccattgaaattgCtctgaaggtaaagcccccat	6	11	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:2706448C>T	uc009zdu.1	+	21	3159	c.2846C>T	c.(2845-2847)GCT>GTT	p.A949V	CACNA1C_uc009zdv.1_Missense_Mutation_p.A946V|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc001qjz.2_Missense_Mutation_p.A949V|CACNA1C_uc001qkd.2_Missense_Mutation_p.A949V|CACNA1C_uc001qkg.2_Missense_Mutation_p.A949V|CACNA1C_uc009zdw.1_Missense_Mutation_p.A949V|CACNA1C_uc001qkh.2_Missense_Mutation_p.A949V|CACNA1C_uc001qkl.2_Missense_Mutation_p.A949V|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qko.2_Missense_Mutation_p.A949V|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkr.2_Intron|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkq.2_Missense_Mutation_p.A949V|CACNA1C_uc001qks.2_Missense_Mutation_p.A949V|CACNA1C_uc001qkt.2_Missense_Mutation_p.A949V|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Missense_Mutation_p.A685V|CACNA1C_uc001qkj.1_Missense_Mutation_p.A685V|CACNA1C_uc001qkk.1_Missense_Mutation_p.A685V|CACNA1C_uc001qkm.1_Missense_Mutation_p.A685V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	949	III.|Helical; Name=S2 of repeat III; (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ATTGAAATTGCTCTGAAGGTA	0.488													T	2706448	C	T	2706448	3	4	75	1	0	0	0	0	1	0	0	0	2540	797	28	2	3036	2	CACNA1C	12	2706448	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1003451	2706448	131145447	825	53036											
CACNA1C	775	broad.mit.edu	37	chr12	2714915	2714915	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgtcaccaccctgctgcAgttcatgtttgcctgcatcg	9	13	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:2714915A>C	uc009zdu.1	+	25	3492	c.3179A>C	c.(3178-3180)CAG>CCG	p.Q1060P	CACNA1C_uc009zdv.1_Missense_Mutation_p.Q1037P|CACNA1C_uc001qkb.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qkc.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qke.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qkf.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qjz.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qkd.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qkg.2_Missense_Mutation_p.Q1040P|CACNA1C_uc009zdw.1_Missense_Mutation_p.Q1040P|CACNA1C_uc001qkh.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qkl.2_Missense_Mutation_p.Q1060P|CACNA1C_uc001qkn.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qko.2_Missense_Mutation_p.Q1060P|CACNA1C_uc001qkp.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qkr.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qku.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qkq.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qks.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qkt.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qka.1_Missense_Mutation_p.Q575P|CACNA1C_uc001qki.1_Missense_Mutation_p.Q776P|CACNA1C_uc001qkj.1_Missense_Mutation_p.Q776P|CACNA1C_uc001qkk.1_Missense_Mutation_p.Q776P|CACNA1C_uc001qkm.1_Missense_Mutation_p.Q776P	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1060	III.|Helical; Name=S5 of repeat III; (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ACCCTGCTGCAGTTCATGTTT	0.587													C	2714915	A	C	2714915	3	2	75	1	0	0	0	0	1	0	0	0	2540	188	7	5	3385	5	CACNA1C	12	2714915	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	8467	2714915	131136980	826	53037											
FKBP4	2288	broad.mit.edu	37	chr12	2907011	2907011	+	Frame_Shift_Del	DEL	C	C	-													caggcagtcctccaaagattCcccccaatgccacgcttgta							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:2907010_2907010TC>T	uc001qkz.3	+	2	564	c.366_366TC>T	c.(364-366)attfs	p.I122fs		NM_002014	NP_002005	Q02790	FKBP4_HUMAN	Homo sapiens FK506 binding protein 4, 59kDa (FKBP4), mRNA.	122	PPIase FKBP-type 1.				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	CTCCAAAGATTCCCCCCAATG	0.552													-	2907011	C	-	2907011	7	5	75	1	0	1	0	1	0	0	0	0	5910	855	30	0	377	0	FKBP4	12	2907011	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	192096	2907011	130944884	827	53038											
KCNA6	3742	broad.mit.edu	37	chr12	4919254	4919254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggcgccgggggaggtccGtgggccggagggagagcaac	23	10	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:4919254G>A	uc001qng.2	+	1	913	c.47G>A	c.(46-48)CGT>CAT	p.R16H		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	16						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						GGGGAGGTCCGTGGGCCGGAG	0.692										HNSCC(72;0.22)			A	4919254	G	A	4919254	3	1	75	1	0	0	0	0	1	0	0	0	8007	1145	40	1	49	1	KCNA6	12	4919254	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2012243	4919254	128932641	828	53039											
LEPREL2	10536	broad.mit.edu	37	chr12	6939061	6939063	+	In_Frame_Del	DEL	CTT	CTT	-													gcagctgcggcagcacacacCttctttgtagcaaaccccat							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:6939061_6939063delCTT	uc001qra.1	+	4	571_573	c.537_539delCTT	c.(535-540)ACCTTC>ACC	p.F181del	LEPREL2_uc001qqz.1_5'UTR|LEPREL2_uc001qrb.1_5'UTR|GPR162_uc001qqy.1_In_Frame_Del_p.F116del	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN	leprecan-like 2 precursor	181	TPR 2.				negative regulation of cell proliferation	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity				0					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CAGCACACACCTTCTTTGTAGCA	0.621											OREG0021637	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	6939063	CTT	-	6939061	7	5	75	1	0	1	0	1	0	0	0	0	8731	668	24	0	542	0	LEPREL2	12	6939061	In_Frame_Del	DEL	CTT	TCGA-BR-8363-01A-11D-2340-08	2019807	6939061	126912834	829	53040											
ATN1	1822	broad.mit.edu	37	chr12	7046302	7046302	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgccaccgtggcttcctcGccagcaggctacaaaacggc	10	15	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:7046302G>A	uc001qrw.1	+	5	2109	c.1872G>A	c.(1870-1872)TCG>TCA	p.S624S	ATN1_uc001qrx.1_Silent_p.S624S	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	624					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						TGGCTTCCTCGCCAGCAGGCT	0.672													A	7046302	G	A	7046302	2	1	75	1	0	0	0	0	0	0	0	1	1111	1074	38	1		1	ATN1	12	7046302	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	107241	7046302	126805593	830	53041											
C1S	716	broad.mit.edu	37	chr12	7177639	7177639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgctgttcgcctcaaggCggcaaggttacctgtagctc	12	12	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:7177639C>T	uc001qsj.2	+	15	2470	c.1751C>T	c.(1750-1752)GCG>GTG	p.A584V	C1S_uc001qsk.2_Missense_Mutation_p.A584V|C1S_uc001qsl.2_Missense_Mutation_p.A584V|C1S_uc009zfr.2_Missense_Mutation_p.A417V|C1S_uc009zfs.2_RNA	NM_201442	NP_958850	P09871	C1S_HUMAN	complement component 1, s subcomponent	584	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			skin(1)	1					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CGCCTCAAGGCGGCAAGGTTA	0.517													T	7177639	C	T	7177639	3	4	75	1	0	0	0	0	1	0	0	0	1974	768	27	1	1793	1	C1S	12	7177639	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	131337	7177639	126674256	831	53042											
C1RL	51279	broad.mit.edu	37	chr12	7249434	7249434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagctccaggagggcgatGtccccgctaaagttatggga	14	10	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:7249434G>A	uc001qsn.2	-	6	1034	c.1017C>T	c.(1015-1017)GAC>GAT	p.D339D	C1RL_uc009zft.2_3'UTR	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	339	Peptidase S1.	Charge relay system (By similarity).			complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			pancreas(1)	1						GGAGGGCGATGTCCCCGCTAA	0.602													A	7249434	G	A	7249434	2	1	75	1	0	0	0	0	0	0	0	1	1973	1368	48	4		4	C1RL	12	7249434	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	71795	7249434	126602461	832	53043											
CD163L1	283316	broad.mit.edu	37	chr12	7527479	7527479	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagacaaatatgggtcagaTacatttgcgaggcatggaaa	12	6	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:7527479T>C	uc001qsy.2	-	12	3068	c.3042A>G	c.(3040-3042)GTA>GTG	p.V1014V	CD163L1_uc010sge.1_Silent_p.V1024V	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	1014	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						ATGGGTCAGATACATTTGCGA	0.458											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	7527479	T	C	7527479	2	2	75	1	0	0	0	0	0	0	0	1	2968	1393	49	3		3	CD163L1	12	7527479	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	278045	7527479	126324416	833	53044											
CD69	969	broad.mit.edu	37	chr12	9907713	9907713	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccatgttcagaacaagcaTtttgggctgaagtccagctc	9	11	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:9907713T>C	uc001qwk.2	-	3	413	c.332A>G	c.(331-333)AAT>AGT	p.N111S	CD69_uc010sgu.1_Missense_Mutation_p.N111S|CD69_uc010sgv.1_Missense_Mutation_p.N111S	NM_001781	NP_001772	Q07108	CD69_HUMAN	CD69 molecule	111	C-type lectin.|Extracellular (Potential).					integral to plasma membrane	sugar binding|transmembrane receptor activity				0						AGAACAAGCATTTTGGGCTGA	0.383													C	9907713	T	C	9907713	3	2	75	1	0	0	0	0	1	0	0	0	3031	1493	52	3	279	3	CD69	12	9907713	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	2380234	9907713	123944182	834	53045											
TAS2R8	50836	broad.mit.edu	37	chr12	10959322	10959322	+	Frame_Shift_Del	DEL	A	A	-													ttggcaaatgtccagaaggtAaaaatgactatctgttgttt					rs147403213		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:10959321_10959321TA>T	uc010shh.2	-	0	259	c.259_259TA>A	c.(259-261)accfs	p.T87fs		NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN	Homo sapiens taste receptor, type 2, member 8 (TAS2R8), mRNA.	87					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTCCAGAAGGTAAAAATGACT	0.348													-	10959322	A	-	10959322	7	5	75	1	0	1	0	1	0	0	0	0	15584	359	13	0	674	0	TAS2R8	12	10959322	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	1051609	10959322	122892573	835	53046											
TAS2R42	353164	broad.mit.edu	37	chr12	11338670	11338670	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcctcacagctgtctgtcGcagcttgctgtttcccagaa	9	13	2	1	rs139760560		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:11338670G>A	uc001qzr.1	-	1	874	c.874C>T	c.(874-876)CGA>TGA	p.R292*	PRB4_uc001qzf.1_Intron	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	292	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			GCTGTCTGTCGCAGCTTGCTG	0.408													A	11338670	G	A	11338670	4	1	75	1	0	0	0	0	0	1	0	0	15577	1095	38	1	74	1	TAS2R42	12	11338670	Nonsense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	379348	11338670	122513225	836	53047											
PRB1	5542	broad.mit.edu	37	chr12	11506346	11506346	+	Frame_Shift_Del	DEL	G	G	-													tggaggaggtgggggaccttGgggctggttgcctccttgtg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:11506345_11506345TG>T	uc001qzw.1	-	3	726	c.689_689CA>A	c.(688-690)caafs	p.Q230fs	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	292	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGGGGACCTTGGGGCTGGTT	0.607													-	11506346	G	-	11506346	7	5	75	1	0	1	0	1	0	0	0	0	12442	1357	47	0	308	0	PRB1	12	11506346	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	167676	11506346	122345549	837	53048											
KIAA1467	57613	broad.mit.edu	37	chr12	13214536	13214536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaccagctgctaatcttgTatgcctttcggggatgaatg	11	8	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:13214536T>C	uc001rbi.2	+	4	583	c.560T>C	c.(559-561)GTA>GCA	p.V187A	KIAA1467_uc009zhx.1_RNA	NM_020853	NP_065904	A2RU67	K1467_HUMAN	hypothetical protein LOC57613	187						integral to membrane				central_nervous_system(2)|skin(1)	3		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GCTAATCTTGTATGCCTTTCG	0.483													C	13214536	T	C	13214536	3	2	75	1	0	0	0	0	1	0	0	0	8235	1638	57	3	574	3	KIAA1467	12	13214536	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1708190	13214536	120637359	838	53049											
GRIN2B	2904	broad.mit.edu	37	chr12	13715771	13715771	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaacatgcccattgctggaGccattgaaagccctggggtt	11	10	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:13715771G>A	uc001rbt.2	-	13	4580	c.4401C>T	c.(4399-4401)GGC>GGT	p.G1467G		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1467	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CATTGCTGGAGCCATTGAAAG	0.507													A	13715771	G	A	13715771	2	1	75	1	0	0	0	0	0	0	0	1	6780	958	34	2		2	GRIN2B	12	13715771	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	501235	13715771	120136124	839	53050											
ATF7IP	55729	broad.mit.edu	37	chr12	14577701	14577701	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagctgacttctgaatcaacCtttgatcgtacctttgaacc	7	11	2	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:14577701C>A	uc001rbw.2	+	2	1010	c.852C>A	c.(850-852)ACC>ACA	p.T284T	ATF7IP_uc010shs.1_Silent_p.T284T|ATF7IP_uc001rbu.2_Silent_p.T284T|ATF7IP_uc001rbv.1_Silent_p.T284T|ATF7IP_uc001rbx.2_Silent_p.T284T|ATF7IP_uc010sht.1_Silent_p.T284T|ATF7IP_uc001rby.3_Silent_p.T284T|ATF7IP_uc001rbz.1_Silent_p.T284T|ATF7IP_uc001rca.2_Silent_p.T284T|ATF7IP_uc001rcb.2_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	284					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						CTGAATCAACCTTTGATCGTA	0.433													A	14577701	C	A	14577701	2	1	75	1	0	0	0	0	0	0	0	1	1087	668	24	5		5	ATF7IP	12	14577701	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	861930	14577701	119274194	840	53051											
PTPRO	5800	broad.mit.edu	37	chr12	15669846	15669846	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgacatcagagtggaccAcctactatgaaatagcagca	8	10	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:15669846A>G	uc001rcv.1	+	9	1909	c.1735A>G	c.(1735-1737)ACC>GCC	p.T579A	PTPRO_uc001rcw.1_Missense_Mutation_p.T579A|PTPRO_uc001rcu.1_Missense_Mutation_p.T579A	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	579	Fibronectin type-III 6.|Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				AGAGTGGACCACCTACTATGA	0.428													G	15669846	A	G	15669846	3	3	75	1	0	0	0	0	1	0	0	0	12809	159	6	3	1769	3	PTPRO	12	15669846	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1092145	15669846	118182049	841	53052											
PLEKHA5	54477	broad.mit.edu	37	chr12	19427737	19427737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacagaccaatcaacttgaGcagttcagagaacaaaatag	7	9	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:19427737G>A	uc001reb.2	+	10	1201	c.1115G>A	c.(1114-1116)AGC>AAC	p.S372N	PLEKHA5_uc010sie.1_Missense_Mutation_p.S378N|PLEKHA5_uc001rea.2_Missense_Mutation_p.S372N|PLEKHA5_uc009zin.2_Missense_Mutation_p.S130N|PLEKHA5_uc010sif.1_Missense_Mutation_p.S264N|PLEKHA5_uc010sig.1_Missense_Mutation_p.S264N|PLEKHA5_uc010sih.1_Missense_Mutation_p.S264N|PLEKHA5_uc001rec.1_Missense_Mutation_p.S60N	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	372							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATCAACTTGAGCAGTTCAGAG	0.448													A	19427737	G	A	19427737	3	1	75	1	0	0	0	0	1	0	0	0	12059	971	34	2	1153	2	PLEKHA5	12	19427737	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	3757891	19427737	114424158	842	53053											
ST8SIA1	6489	broad.mit.edu	37	chr12	22354742	22354742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaagtcctgtggacaggCgcttggcatggattcctcta	12	9	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:22354742C>T	uc001rfo.3	-	5	1297	c.815G>A	c.(814-816)CGC>CAC	p.R272H	ST8SIA1_uc009zix.2_Missense_Mutation_p.R129H	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	alpha-2,8-sialyltransferase 1	272	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(3)	3						TGTGGACAGGCGCTTGGCATG	0.507													T	22354742	C	T	22354742	3	4	75	1	0	0	0	0	1	0	0	0	15230	768	27	1	259	1	ST8SIA1	12	22354742	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2927005	22354742	111497153	843	53054											
OVCH1	341350	broad.mit.edu	37	chr12	29604296	29604296	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgccgtctttctcttacTgtgtctttcttcataaataa	4	11	5	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:29604296T>G	uc001rix.1	-	22	2737	c.2737A>C	c.(2737-2739)AGT>CGT	p.S913R		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	913	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTTCTCTTACTGTGTCTTTCT	0.428													G	29604296	T	G	29604296	3	3	75	1	0	0	0	0	1	0	0	0	11323	1580	55	5	695	5	OVCH1	12	29604296	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	7249554	29604296	104247599	844	53055											
IPO8	10526	broad.mit.edu	37	chr12	30827606	30827606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taattaccgttcaaagagccGagctacaatatgcagtgccc	8	11	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:30827606G>A	uc001rjd.2	-	7	981	c.811C>T	c.(811-813)CGG>TGG	p.R271W	IPO8_uc010sjt.1_Missense_Mutation_p.R66W	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	271					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCAAAGAGCCGAGCTACAATA	0.418													A	30827606	G	A	30827606	3	1	75	1	0	0	0	0	1	0	0	0	7798	1057	37	1	2378	1	IPO8	12	30827606	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1223310	30827606	103024289	845	53056											
KIF21A	55605	broad.mit.edu	37	chr12	39727030	39727030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacctcttcagttttgcgaCgtagaaccacttcttggttt	8	10	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:39727030C>T	uc001rly.2	-	18	2617	c.2471G>A	c.(2470-2472)CGT>CAT	p.R824H	KIF21A_uc001rlv.2_5'Flank|KIF21A_uc001rlw.2_Missense_Mutation_p.R141H|KIF21A_uc001rlx.2_Missense_Mutation_p.R811H|KIF21A_uc001rlz.2_Intron|KIF21A_uc010skl.1_Missense_Mutation_p.R811H	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	824					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				AGTTTTGCGACGTAGAACCAC	0.338													T	39727030	C	T	39727030	3	4	75	1	0	0	0	0	1	0	0	0	8288	536	19	1	2637	1	KIF21A	12	39727030	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	8899424	39727030	94124865	846	53057											
GXYLT1	283464	broad.mit.edu	37	chr12	42499816	42499817	+	Frame_Shift_Ins	INS	-	-	A													aatatcatcaactggtcgtaINSaaaaaaggatatcagtgtcg					rs78939583		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:42499815_42499816T>TA	uc001rms.4	-	4	893_894	c.668_669A>TA	c.(667-669)ttafs	p.L223fs	GXYLT1_uc001rmt.4_Frame_Shift_Ins_p.L192fs	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	223					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CAACTGGTCGTAAAAAAAGGAT	0.327													A	42499817	-	A	42499816	7	5	75	1	0	1	1	0	0	0	0	0	6903	372	13	0	670	0	GXYLT1	12	42499816	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	2772786	42499816	91352079	847	53058											
MLL2	8085	broad.mit.edu	37	chr12	49445500	49445500	+	Frame_Shift_Del	DEL	G	G	-													caggcgtgacaccacaggcaGgggggataggcgcgatacct							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:49445499_49445499AG>A	uc001rta.4	-	9	1967	c.1967_1967CT>T	c.(1966-1968)ctgfs	p.L656fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	656	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CACCACAGGCAGGGGGGATAG	0.642			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	49445500	G	-	49445500	7	5	75	1	0	1	0	1	0	0	0	0	9621	991	35	0	14827	0	MLL2	12	49445500	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	6945684	49445500	84406395	848	53059											
POU6F1	5463	broad.mit.edu	37	chr12	51584325	51584325	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtttagccacttttccagcAccggctttagcttctgggca	9	13	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:51584325A>G	uc001rxy.2	-	5	803	c.611T>C	c.(610-612)GTG>GCG	p.V204A	POU6F1_uc001rxz.2_Missense_Mutation_p.V204A|POU6F1_uc001rya.2_Missense_Mutation_p.V204A	NM_002702	NP_002693	Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	204	POU-specific.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTTTTCCAGCACCGGCTTTAG	0.552													G	51584325	A	G	51584325	3	3	75	1	0	0	0	0	1	0	0	0	12284	159	6	3	298	3	POU6F1	12	51584325	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	2138825	51584325	82267570	849	53060											
ANKRD33	341405	broad.mit.edu	37	chr12	52284676	52284676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactgccacaaccagcctgGccagtcccttcgtcaccact	7	18	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:52284676G>A	uc001rzf.3	+	5	1150	c.571G>A	c.(571-573)GCC>ACC	p.A191T	ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzd.2_Missense_Mutation_p.A316T|ANKRD33_uc001rze.2_Missense_Mutation_p.A212T|ANKRD33_uc001rzg.3_Missense_Mutation_p.A118T|ANKRD33_uc001rzi.3_Missense_Mutation_p.A191T	NM_001130015	NP_001123487	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33 isoform 1	191											0				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AACCAGCCTGGCCAGTCCCTT	0.622													A	52284676	G	A	52284676	3	1	75	1	0	0	0	0	1	0	0	0	661	1203	42	2	994	2	ANKRD33	12	52284676	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	700351	52284676	81567219	850	53061											
KRT81	3887	broad.mit.edu	37	chr12	52681817	52681817	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccggctgcgggtgacaatgTcgtcatactgtgccttaatc	11	12	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:52681817T>C	uc001sab.2	-	5	901	c.851A>G	c.(850-852)GAC>GGC	p.D284G	KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_Intron	NM_002281	NP_002272	Q14533	KRT81_HUMAN	keratin, hair, basic, 1	284	Rod.|Coil 2.					keratin filament	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTGACAATGTCGTCATACTG	0.592													C	52681817	T	C	52681817	3	2	75	1	0	0	0	0	1	0	0	0	8495	1667	58	3	686	3	KRT81	12	52681817	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	397141	52681817	81170078	851	53062											
KRT6A	3853	broad.mit.edu	37	chr12	52881539	52881539	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgctggaggaggaggTggtggtgtacttgatggtgg	19	5	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:52881539T>A	uc001sam.2	-	9	1869	c.1660A>T	c.(1660-1662)ACC>TCC	p.T554S		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	554	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGGAGGAGGTGGTGGTGTAC	0.597													A	52881539	T	A	52881539	3	1	75	1	0	0	0	0	1	0	0	0	8480	1696	59	5	38	5	KRT6A	12	52881539	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	199722	52881539	80970356	852	53063											
KRT4	3851	broad.mit.edu	37	chr12	53207679	53207679	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgcttttgttccccctgAggttgtagaggcttctgctg	12	9	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:53207679A>G	uc001saz.2	-	1	657	c.386T>C	c.(385-387)CTC>CCC	p.L129P		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	keratin 4	55						keratin filament	structural molecule activity			ovary(4)|skin(2)	6						GTTCCCCCTGAGGTTGTAGAG	0.587													G	53207679	A	G	53207679	3	3	75	1	0	0	0	0	1	0	0	0	8477	304	11	3	1434	3	KRT4	12	53207679	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	326140	53207679	80644216	853	53064											
SPRYD3	84926	broad.mit.edu	37	chr12	53470932	53470932	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catctacaaggatatgtttgAacctctcctgatatcggaaa	7	9	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:53470932A>C	uc001sbt.1	-	2	158	c.137T>G	c.(136-138)TTC>TGC	p.F46C	SPRYD3_uc010snw.1_5'UTR	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	46	B30.2/SPRY.									central_nervous_system(1)	1						GATATGTTTGAACCTCTCCTG	0.463													C	53470932	A	C	53470932	3	2	75	1	0	0	0	0	1	0	0	0	15108	246	9	5	1231	5	SPRYD3	12	53470932	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	263253	53470932	80380963	854	53065											
MAP3K12	7786	broad.mit.edu	37	chr12	53874985	53874986	+	Frame_Shift_Ins	INS	-	-	G													tcatggagggagggaagctgINSggggccgcaaggcatcaacg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:53874984_53874985T>TG	uc001sdn.2	-	13	2931_2932	c.2660_2661A>CA	c.(2659-2661)ccafs	p.P887fs	MAP3K12_uc001sdm.2_Frame_Shift_Ins_p.P854fs	NM_001193511	NP_001180440	Q12852	M3K12_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA.	854					JNK cascade|histone phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GGAGGGAAGCTGGGGGCCGCAA	0.416													G	53874986	-	G	53874985	7	5	75	1	0	1	1	0	0	0	0	0	9246	1348	47	0	22	0	MAP3K12	12	53874985	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	404053	53874985	79976910	855	53066											
NCKAP1L	3071	broad.mit.edu	37	chr12	54903701	54903701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagggggctgagcagtggCgcagtgcccaacttctaagc	14	12	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:54903701C>T	uc001sgc.3	+	7	746	c.667C>T	c.(667-669)CGC>TGC	p.R223C	NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.R173C	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	223					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						TGAGCAGTGGCGCAGTGCCCA	0.517													T	54903701	C	T	54903701	3	4	75	1	0	0	0	0	1	0	0	0	10222	768	27	1	693	1	NCKAP1L	12	54903701	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1028716	54903701	78948194	856	53067											
ITGA7	3679	broad.mit.edu	37	chr12	56094815	56094815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccctcacagaacttccattCcccaccatccaactcatccc	1	21	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:56094815C>T	uc001shh.2	-	4	758	c.538G>A	c.(538-540)GAA>AAA	p.E180K	ITGA7_uc001shg.2_Missense_Mutation_p.E180K|ITGA7_uc010sps.1_Missense_Mutation_p.E83K|ITGA7_uc009znx.2_Missense_Mutation_p.E67K	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	180	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						AACTTCCATTCCCCACCATCC	0.592													T	56094815	C	T	56094815	3	4	75	1	0	0	0	0	1	0	0	0	7881	864	30	4	3099	4	ITGA7	12	56094815	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1191114	56094815	77757080	857	53068											
DNAJC14	85406	broad.mit.edu	37	chr12	56221131	56221131	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agggtttagctcatcctcagGaaccccagccatggtcaaga	10	12	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:56221131G>C	uc001shx.1	-	2	1516	c.1312C>G	c.(1312-1314)CCT>GCT	p.P438A	DNAJC14_uc001shu.1_Missense_Mutation_p.P438A|DNAJC14_uc009zob.1_Missense_Mutation_p.P438A|DNAJC14_uc001shy.1_Missense_Mutation_p.P438A	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	438					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						TCATCCTCAGGAACCCCAGCC	0.527													C	56221131	G	C	56221131	3	2	75	1	0	0	0	0	1	0	0	0	4633	1174	41	5	820	5	DNAJC14	12	56221131	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	126316	56221131	77630764	858	53069											
ERBB3	2065	broad.mit.edu	37	chr12	56495050	56495050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcgcctaccattcccagcGccacagtctgctgactcctg	8	17	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:56495050G>A	uc001sjh.2	+	27	3600	c.3407G>A	c.(3406-3408)CGC>CAC	p.R1136H	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Missense_Mutation_p.R493H|ERBB3_uc010sqc.1_Missense_Mutation_p.R1077H|ERBB3_uc009zok.2_Missense_Mutation_p.R401H|ERBB3_uc001sjk.2_Missense_Mutation_p.R377H|ERBB3_uc001sjl.2_Missense_Mutation_p.R256H	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	1136	Cytoplasmic (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CATTCCCAGCGCCACAGTCTG	0.597													A	56495050	G	A	56495050	3	1	75	1	0	0	0	0	1	0	0	0	5208	1087	38	1	3644	1	ERBB3	12	56495050	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	273919	56495050	77356845	859	53070											
SMARCC2	6601	broad.mit.edu	37	chr12	56566249	56566249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctgttctgtccactcaCgagtggcactggctgcagcc	10	14	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:56566249C>T	uc001skb.2	-	19	1902	c.1796G>A	c.(1795-1797)CGT>CAT	p.R599H	SMARCC2_uc001skd.2_Missense_Mutation_p.R630H|SMARCC2_uc001ska.2_Missense_Mutation_p.R630H|SMARCC2_uc001skc.2_Missense_Mutation_p.R629H|SMARCC2_uc010sqf.1_Missense_Mutation_p.R519H	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	599	SANT.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGTCCACTCACGAGTGGCACT	0.512													T	56566249	C	T	56566249	3	4	75	1	0	0	0	0	1	0	0	0	14776	536	19	1	1888	1	SMARCC2	12	56566249	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	71199	56566249	77285646	860	53071											
ANKRD52	283373	broad.mit.edu	37	chr12	56639297	56639297	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaggccaggtgaatgggCgtgcggcccttaaagtctcg	16	10	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:56639297C>T	uc001skm.3	-	21	2358	c.2268G>A	c.(2266-2268)ACG>ACA	p.T756T		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	756	ANK 22.						protein binding			ovary(2)	2						GGTGAATGGGCGTGCGGCCCT	0.622													T	56639297	C	T	56639297	2	4	75	1	0	0	0	0	0	0	0	1	678	755	27	1		1	ANKRD52	12	56639297	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	73048	56639297	77212598	861	53072											
MYO1A	4640	broad.mit.edu	37	chr12	57432416	57432416	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataaagctggtcacgttgtAtgtcacctgtaaaggagcag	11	7	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:57432416A>G	uc001smw.3	-	17	1783	c.1540T>C	c.(1540-1542)TAC>CAC	p.Y514H	MYO1A_uc010sqz.1_Missense_Mutation_p.Y352H|MYO1A_uc009zpd.2_Missense_Mutation_p.Y514H	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	myosin IA	514	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|urinary_tract(1)	7						GTCACGTTGTATGTCACCTGT	0.517													G	57432416	A	G	57432416	3	3	75	1	0	0	0	0	1	0	0	0	10068	449	16	3	1639	3	MYO1A	12	57432416	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	793119	57432416	76419479	862	53073											
LRP1	4035	broad.mit.edu	37	chr12	57577934	57577934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctcaatggctccttccGctacgtggtgatctcccagg	11	15	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:57577934G>A	uc001snd.2	+	37	6462	c.5996G>A	c.(5995-5997)CGC>CAC	p.R1999H		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1999	LDL-receptor class B 18.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCTCCTTCCGCTACGTGGTG	0.597													A	57577934	G	A	57577934	3	1	75	1	0	0	0	0	1	0	0	0	8951	1087	38	1	6142	1	LRP1	12	57577934	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	145518	57577934	76273961	863	53074											
LRP1	4035	broad.mit.edu	37	chr12	57597035	57597035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgcggggcgctggaaatgcGatggagaccacgactgcgcg	17	11	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:57597035G>A	uc001snd.2	+	69	11249	c.10783G>A	c.(10783-10785)GAT>AAT	p.D3595N		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3595	LDL-receptor class A 27.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGGAAATGCGATGGAGACCA	0.667													A	57597035	G	A	57597035	3	1	75	1	0	0	0	0	1	0	0	0	8951	1058	37	1	11057	1	LRP1	12	57597035	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	19101	57597035	76254860	864	53075											
B4GALNT1	2583	broad.mit.edu	37	chr12	58021483	58021483	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggaagaagttaaccacGccgtcggtgaccacgcagcc	12	14	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:58021483G>A	uc001spg.1	-	10	1734	c.1302C>T	c.(1300-1302)GGC>GGT	p.G434G	B4GALNT1_uc010sru.1_Silent_p.G379G	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	434	Lumenal (Potential).				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity				0	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AGTTAACCACGCCGTCGGTGA	0.701													A	58021483	G	A	58021483	2	1	75	1	0	0	0	0	0	0	0	1	1266	1074	38	1		1	B4GALNT1	12	58021483	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	424448	58021483	75830412	865	53076											
C12orf66	144577	broad.mit.edu	37	chr12	64615892	64615892	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccccgcgctcttgttggcCtctcgttccttctccacatt	6	19	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:64615892C>A	uc001srw.3	-	1	185	c.126G>T	c.(124-126)GAG>GAT	p.E42D	uc001srx.2_5'Flank|C12orf66_uc009zql.2_Intron	NM_152440	NP_689653	Q96MD2	CL066_HUMAN	hypothetical protein LOC144577	42										ovary(1)	1						TCTTGTTGGCCTCTCGTTCCT	0.637													A	64615892	C	A	64615892	3	1	75	1	0	0	0	0	1	0	0	0	1709	680	24	5	1223	5	C12orf66	12	64615892	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	6594409	64615892	69236003	866	53077											
LEMD3	23592	broad.mit.edu	37	chr12	65634842	65634842	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgacaaaatattagttatAccttctaaagtatggcaagg	8	5	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:65634842A>G	uc001ssl.1	+	9	2286	c.2280A>G	c.(2278-2280)ATA>ATG	p.I760M	LEMD3_uc009zqo.1_Missense_Mutation_p.I759M	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	760	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			central_nervous_system(3)|ovary(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TATTAGTTATACCTTCTAAAG	0.353													G	65634842	A	G	65634842	3	3	75	1	0	0	0	0	1	0	0	0	8721	381	14	3	2314	3	LEMD3	12	65634842	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1018950	65634842	68217053	867	53078											
LEMD3	23592	broad.mit.edu	37	chr12	65639551	65639551	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagtagacaaaaattcacgTgaggtaaagtaacttttggt	10	5	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:65639551T>C	uc001ssl.1	+	11	2496	c.2490T>C	c.(2488-2490)CGT>CGC	p.R830R	LEMD3_uc009zqo.1_Silent_p.R829R	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	830	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			central_nervous_system(3)|ovary(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		AAAATTCACGTGAGGTAAAGT	0.313													C	65639551	T	C	65639551	2	2	75	1	0	0	0	0	0	0	0	1	8721	1683	59	3		3	LEMD3	12	65639551	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	4709	65639551	68212344	868	53079											
DYRK2	8445	broad.mit.edu	37	chr12	68050891	68050891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctgaattccagattggCggcagtaagcacacaatgaa	10	9	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:68050891C>T	uc001str.3	+	3	606	c.204C>T	c.(202-204)GGC>GGT	p.G68G	DYRK2_uc001sts.3_5'UTR	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	68					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(1)|central_nervous_system(1)	4			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		TCCAGATTGGCGGCAGTAAGC	0.468													T	68050891	C	T	68050891	2	4	75	1	0	0	0	0	0	0	0	1	4856	755	27	1		1	DYRK2	12	68050891	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2411340	68050891	65801004	869	53080											
SLC35E3	55508	broad.mit.edu	37	chr12	69140182	69140182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgctggtggaccgagtgCggggccactggcgaatcgcc	16	12	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:69140182C>T	uc001suh.2	+	1	247	c.25C>T	c.(25-27)CGG>TGG	p.R9W		NM_018656	NP_061126	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E2	9						integral to membrane					0	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			GGACCGAGTGCGGGGCCACTG	0.632													T	69140182	C	T	69140182	3	4	75	1	0	0	0	0	1	0	0	0	14586	759	27	1	27	1	SLC35E3	12	69140182	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1089291	69140182	64711713	870	53081											
LRRC10	376132	broad.mit.edu	37	chr12	70004012	70004012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccaggctggggaagtaacGgatgctgttccagtccacat	13	11	0	0	rs143606238		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:70004012G>A	uc001svc.2	-	1	931	c.607C>T	c.(607-609)CGT>TGT	p.R203C		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	203	LRR 7.					nucleus					0	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGGAAGTAACGGATGCTGTTC	0.572													A	70004012	G	A	70004012	3	1	75	1	0	0	0	0	1	0	0	0	8967	1116	39	1	230	1	LRRC10	12	70004012	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	863830	70004012	63847883	871	53082											
THAP2	83591	broad.mit.edu	37	chr12	72070679	72070679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacttgcctacaaaaggaaCgcagagcaactcgaagatgg	10	9	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:72070679C>T	uc001swq.2	+	3	984	c.478C>T	c.(478-480)CGC>TGC	p.R160C		NM_031435	NP_113623	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated	160						nucleolus	DNA binding|metal ion binding			ovary(1)	1						ACAAAAGGAACGCAGAGCAAC	0.368													T	72070679	C	T	72070679	3	4	75	1	0	0	0	0	1	0	0	0	15841	536	19	1	488	1	THAP2	12	72070679	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2066667	72070679	61781216	872	53083											
ACSS3	79611	broad.mit.edu	37	chr12	81532965	81532965	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctggaaggagggtagagtAcgtaccacttgtagaagaag	14	6	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:81532965A>G	uc001szl.1	+	4	792	c.701A>G	c.(700-702)TAC>TGC	p.Y234C	ACSS3_uc001szm.1_Missense_Mutation_p.Y233C	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	234						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						AGGGTAGAGTACGTACCACTT	0.348													G	81532965	A	G	81532965	3	3	75	1	0	0	0	0	1	0	0	0	190	391	14	3	715	3	ACSS3	12	81532965	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	9462286	81532965	52318930	873	53084											
SLC6A15	55117	broad.mit.edu	37	chr12	85260861	85260861	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatattctccaaaatgactAcaattagcagaggcagtgta	7	8	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:85260861A>G	uc001szv.2	-	10	2100	c.1607T>C	c.(1606-1608)GTA>GCA	p.V536A	SLC6A15_uc010sul.1_Missense_Mutation_p.V429A|SLC6A15_uc001szw.1_Missense_Mutation_p.V244A|uc001szx.2_5'Flank	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	536	Helical; Name=10; (Potential).				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3						CAAAATGACTACAATTAGCAG	0.323													G	85260861	A	G	85260861	3	3	75	1	0	0	0	0	1	0	0	0	14678	391	14	3	597	3	SLC6A15	12	85260861	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	3727896	85260861	48591034	874	53085											
MGAT4C	25834	broad.mit.edu	37	chr12	86373639	86373639	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaccacggaaatgagtcaAtagccaatcacaaggcattt	8	10	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:86373639A>G	uc001tai.3	-	8	2115	c.865T>C	c.(865-867)TTG>CTG	p.L289L	MGAT4C_uc001tal.3_Silent_p.L289L|MGAT4C_uc001taj.3_Silent_p.L289L|MGAT4C_uc001tak.3_Silent_p.L289L|MGAT4C_uc010sum.1_Silent_p.L313L|MGAT4C_uc001tah.3_Silent_p.L289L	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	289	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(3)	3						AAATGAGTCAATAGCCAATCA	0.388													G	86373639	A	G	86373639	2	3	75	1	0	0	0	0	0	0	0	1	9547	98	4	3		3	MGAT4C	12	86373639	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1112778	86373639	47478256	875	53086											
EEA1	8411	broad.mit.edu	37	chr12	93172940	93172940	+	Frame_Shift_Del	DEL	T	T	-													tcttcagctcctcttcttccTttttcacctggtcttttagt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:93172939_93172939CT>C	uc001tck.3	-	24	3871	c.3606_3606AG>G	c.(3604-3606)aagfs	p.K1202fs		NM_003566	NP_003557	Q15075	EEA1_HUMAN	Homo sapiens early endosome antigen 1 (EEA1), mRNA.	1202	Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CCTCTTCTTCCTTTTTCACCT	0.403													-	93172940	T	-	93172940	7	5	75	1	0	1	0	1	0	0	0	0	4921	1609	56	0	650	0	EEA1	12	93172940	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	6799301	93172940	40678955	876	53087											
NDUFA12	55967	broad.mit.edu	37	chr12	95387988	95387988	+	Frame_Shift_Del	DEL	T	T	-													catccacatcccagaatgtgTttttgccattcatttcagta					rs146044204	by1000genomes	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:95387987_95387987GT>G	uc001tdl.3	-	2	271	c.216_216AC>C	c.(214-216)aacfs	p.N72fs		NM_018838	NP_061326	Q9UI09	NDUAC_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 (NDUFA12), nuclear gene encoding mitochondrial protein, mRNA.	72					respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|electron carrier activity			endometrium(1)|large_intestine(2)|lung(3)	6					NADH(DB00157)	CCCAGAATGTGTTTTTGCCAT	0.368													-	95387988	T	-	95387988	7	5	75	1	0	1	0	1	0	0	0	0	10262	1725	60	0	230	0	NDUFA12	12	95387988	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	2215048	95387988	38463907	877	53088											
HAL	3034	broad.mit.edu	37	chr12	96371742	96371742	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgctccacatgctcgatgAccctgagggctttccttgct	9	14	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:96371742A>G	uc001tem.1	-	18	1931	c.1634T>C	c.(1633-1635)GTC>GCC	p.V545A	HAL_uc009zti.1_RNA|HAL_uc010suw.1_Missense_Mutation_p.V337A|HAL_uc010sux.1_Missense_Mutation_p.V545A	NM_002108	NP_002099	P42357	HUTH_HUMAN	histidine ammonia-lyase	545					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			ovary(2)|skin(1)	3					L-Histidine(DB00117)	ATGCTCGATGACCCTGAGGGC	0.532													G	96371742	A	G	96371742	3	3	75	1	0	0	0	0	1	0	0	0	6947	275	10	3	355	3	HAL	12	96371742	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	983754	96371742	37480153	878	53089											
FAM71C	196472	broad.mit.edu	37	chr12	100042149	100042149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattgacgtgcacaaccgtgCccgaatggtaacaatgggca	12	10	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:100042149C>T	uc001tgn.2	+	1	619	c.197C>T	c.(196-198)GCC>GTC	p.A66V	ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN	hypothetical protein LOC196472	66											0				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CACAACCGTGCCCGAATGGTA	0.517													T	100042149	C	T	100042149	3	4	75	1	0	0	0	0	1	0	0	0	5609	739	26	2	199	2	FAM71C	12	100042149	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3670407	100042149	33809746	879	53090											
ANO4	121601	broad.mit.edu	37	chr12	101493484	101493484	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcctatggactcttcgatgAatacttagaaatgagtatgg	10	6	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:101493484A>G	uc010svm.1	+	22	2707	c.2135A>G	c.(2134-2136)GAA>GGA	p.E712G	ANO4_uc001thw.2_Missense_Mutation_p.E677G|ANO4_uc001thx.2_Missense_Mutation_p.E712G|ANO4_uc001thy.2_Missense_Mutation_p.E232G	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	712	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						CTCTTCGATGAATACTTAGAA	0.328										HNSCC(74;0.22)			G	101493484	A	G	101493484	3	3	75	1	0	0	0	0	1	0	0	0	699	246	9	3	2108	3	ANO4	12	101493484	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1451335	101493484	32358411	880	53091											
DRAM1	55332	broad.mit.edu	37	chr12	102301990	102301990	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgccagtggttcatgaCgggggcgctcttttggcctt	15	10	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:102301990C>T	uc001tix.2	+	4	832	c.369C>T	c.(367-369)GAC>GAT	p.D123D	DRAM1_uc010svv.1_Intron	NM_018370	NP_060840	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	123	Helical; (Potential).				apoptosis|autophagy	integral to membrane|lysosomal membrane				ovary(1)	1						TGGTTCATGACGGGGGCGCTC	0.498													T	102301990	C	T	102301990	2	4	75	1	0	0	0	0	0	0	0	1	4753	535	19	1		1	DRAM1	12	102301990	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	808506	102301990	31549905	881	53092											
ASCL1	429	broad.mit.edu	37	chr12	103352344	103352344	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggctcaacttcagcggcTttggctacagcctgccgcag	12	15	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:103352344T>G	uc001tjr.3	+	1	893	c.322T>G	c.(322-324)TTT>GTT	p.F108V		NM_004316	NP_004307	P50553	ASCL1_HUMAN	achaete-scute complex homolog 1	108					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0						CTTCAGCGGCTTTGGCTACAG	0.667													G	103352344	T	G	103352344	3	3	75	1	0	0	0	0	1	0	0	0	1034	1609	56	5	324	5	ASCL1	12	103352344	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1050354	103352344	30499551	882	53093											
CHST11	50515	broad.mit.edu	37	chr12	105151303	105151303	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaacgaacactggcaaAccgtctactcactctgccat	5	15	4	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:105151303A>C	uc001tkx.1	+	4	1072	c.781A>C	c.(781-783)ACC>CCC	p.T261P	CHST11_uc001tky.2_Missense_Mutation_p.T256P|uc001tkz.2_5'Flank	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	carbohydrate sulfotransferase 11	261	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity				0						ACACTGGCAAACCGTCTACTC	0.557													C	105151303	A	C	105151303	3	2	75	1	0	0	0	0	1	0	0	0	3399	43	2	5	791	5	CHST11	12	105151303	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1798959	105151303	28700592	883	53094											
POLR3B	55703	broad.mit.edu	37	chr12	106770229	106770229	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaatgtcccttagatccagGtatgtgtgaagtcttggatt	11	7	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:106770229G>A	uc001tlp.2	+	7	718	c.496_splice	c.e7+1	p.G166_splice	POLR3B_uc001tlq.2_Splice_Site_p.G108_splice	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1						innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						TTAGATCCAGGTATGTGTGAA	0.388													A	106770229	G	A	106770229	5	1	75	1	0	0	0	0	0	0	1	0	12229	1275	44	4	523	4	POLR3B	12	106770229	Splice_Site	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1618926	106770229	27081666	884	53095											
ASCL4	121549	broad.mit.edu	37	chr12	108169429	108169429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccggcgccgtcccccagcGcagggcggaatgcaacagcg	16	16	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:108169429G>A	uc001tmr.2	+	1	1268	c.437G>A	c.(436-438)CGC>CAC	p.R146H		NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN	achaete-scute complex-like 4	145					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)	1						GTCCCCCAGCGCAGGGCGGAA	0.726													A	108169429	G	A	108169429	3	1	75	1	0	0	0	0	1	0	0	0	1036	1087	38	1	439	1	ASCL4	12	108169429	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1399200	108169429	25682466	885	53096											
SART3	9733	broad.mit.edu	37	chr12	108929213	108929213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgctatcccagagttccCgagctttctgcatgttattg	9	10	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:108929213C>T	uc001tmz.1	-	12	1713	c.1478G>A	c.(1477-1479)CGG>CAG	p.R493Q	SART3_uc001tmy.1_Missense_Mutation_p.R19Q|SART3_uc009zux.1_Missense_Mutation_p.R105Q|SART3_uc010swx.1_Missense_Mutation_p.R457Q|SART3_uc010swy.1_Missense_Mutation_p.R379Q|SART3_uc010swz.1_Missense_Mutation_p.R493Q|SART3_uc001tna.1_RNA	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	493	HAT 8.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						CCAGAGTTCCCGAGCTTTCTG	0.493									Porokeratosis				T	108929213	C	T	108929213	3	4	75	1	0	0	0	0	1	0	0	0	13847	652	23	1	1445	1	SART3	12	108929213	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	759784	108929213	24922682	886	53097											
ACACB	32	broad.mit.edu	37	chr12	109605836	109605836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaggaccttaaggccaacGcaggtacctgggccttgacc	12	14	0	1	rs78715638		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:109605836G>A	uc001tob.2	+	4	1041	c.922G>A	c.(922-924)GCA>ACA	p.A308T	ACACB_uc001toc.2_Missense_Mutation_p.A308T	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	308	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	TAAGGCCAACGCAGGTACCTG	0.627													A	109605836	G	A	109605836	3	1	75	1	0	0	0	0	1	0	0	0	107	1087	38	1	932	1	ACACB	12	109605836	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	676623	109605836	24246059	887	53098											
UBE3B	89910	broad.mit.edu	37	chr12	109936110	109936110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagagaccaagatcgatgcCgtgatgtatgtgaaagttta	11	5	0	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:109936110C>T	uc001top.2	+	11	1495	c.892C>T	c.(892-894)CGT>TGT	p.R298C	UBE3B_uc001toq.2_Missense_Mutation_p.R298C|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.R298C	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	298					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						AGATCGATGCCGTGATGTATG	0.433													T	109936110	C	T	109936110	3	4	75	1	0	0	0	0	1	0	0	0	16877	652	23	1	926	1	UBE3B	12	109936110	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	330274	109936110	23915785	888	53099											
GLTP	51228	broad.mit.edu	37	chr12	110293513	110293513	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacacggatgaggttggggtGgttctcgtcccgctccccgt	15	12	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:110293513G>T	uc001tpm.2	-	4	472	c.358C>A	c.(358-360)CAC>AAC	p.H120N	GLTP_uc010sxt.1_RNA	NM_016433	NP_057517	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	120						cytoplasm	glycolipid binding|glycolipid transporter activity				0		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		AGGTTGGGGTGGTTCTCGTCC	0.607													T	110293513	G	T	110293513	3	4	75	1	0	0	0	0	1	0	0	0	6471	1348	47	5	279	5	GLTP	12	110293513	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	357403	110293513	23558382	889	53100											
BRAP	8315	broad.mit.edu	37	chr12	112120995	112120995	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatcacatctgtcatttctcGacggccgagatgctgatgga	11	10	4	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:112120995G>A	uc001tsn.3	-	2	393	c.199C>T	c.(199-201)CGA>TGA	p.R67*	BRAP_uc010syh.1_5'Flank|BRAP_uc009zvv.2_Nonsense_Mutation_p.R37*|ACAD10_uc009zvw.2_5'Flank|ACAD10_uc001tso.3_5'Flank|ACAD10_uc001tsp.2_5'Flank|ACAD10_uc009zvx.2_5'Flank|ACAD10_uc001tsq.2_5'Flank	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	67					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			lung(1)	1						GTCATTTCTCGACGGCCGAGA	0.453													A	112120995	G	A	112120995	4	1	75	1	0	0	0	0	0	1	0	0	1497	1066	37	1	1623	1	BRAP	12	112120995	Nonsense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1827482	112120995	21730900	890	53101											
ACAD10	80724	broad.mit.edu	37	chr12	112150444	112150444	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagtacctcaaagacttacTgggtatccagaccacaggta	9	10	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:112150444T>A	uc001tsq.2	+	6	1033	c.833T>A	c.(832-834)CTG>CAG	p.L278Q	ACAD10_uc001tso.3_Missense_Mutation_p.L278Q|ACAD10_uc001tsp.2_Missense_Mutation_p.L278Q|ACAD10_uc009zvx.2_Missense_Mutation_p.L309Q|ACAD10_uc001tsr.2_Missense_Mutation_p.L16Q|ACAD10_uc001tss.1_5'Flank	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	278							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						AAAGACTTACTGGGTATCCAG	0.438													A	112150444	T	A	112150444	3	1	75	1	0	0	0	0	1	0	0	0	108	1580	55	5	948	5	ACAD10	12	112150444	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	29449	112150444	21701451	891	53102											
NAA25	80018	broad.mit.edu	37	chr12	112498103	112498103	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatacatcaataagcgcaTggacagcaaggagacagtaa	9	9	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:112498103T>C	uc001ttm.2	-	13	1438	c.1418A>G	c.(1417-1419)CAT>CGT	p.H473R	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.H445R|NAA25_uc009zwa.1_Missense_Mutation_p.H473R	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	473						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						AATAAGCGCATGGACAGCAAG	0.333													C	112498103	T	C	112498103	3	2	75	1	0	0	0	0	1	0	0	0	10121	1464	51	3	1548	3	NAA25	12	112498103	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	347659	112498103	21353792	892	53103											
C12orf51	283450	broad.mit.edu	37	chr12	112711476	112711476	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctttgggctcagtgataAtgtgactgactccaagtctc	9	11	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:112711476A>C	uc009zwc.2	-	4	647	c.629T>G	c.(628-630)ATT>AGT	p.I210S	C12orf51_uc010syk.1_Missense_Mutation_p.I33S|C12orf51_uc001tts.2_Missense_Mutation_p.I33S|C12orf51_uc001ttt.3_Missense_Mutation_p.I33S	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CTCAGTGATAATGTGACTGAC	0.433													C	112711476	A	C	112711476	3	2	75	1	0	0	0	0	1	0	0	0	1696	101	4	5	11625	5	C12orf51	12	112711476	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	213373	112711476	21140419	893	53104											
DDX54	79039	broad.mit.edu	37	chr12	113603672	113603672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctcttgatggactcaggcGagggcgccgggcgtgagcgc	17	13	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:113603672G>A	uc001tup.2	-	13	1608	c.1580C>T	c.(1579-1581)TCG>TTG	p.S527L	DDX54_uc001tuq.3_Missense_Mutation_p.S527L	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	527					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						GGACTCAGGCGAGGGCGCCGG	0.662													A	113603672	G	A	113603672	3	1	75	1	0	0	0	0	1	0	0	0	4372	1059	37	1	1100	1	DDX54	12	113603672	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	892196	113603672	20248223	894	53105											
TAOK3	51347	broad.mit.edu	37	chr12	118636898	118636898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaattgattgtgctttcGtcatcgtgcatcatgacaag	10	8	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:118636898G>A	uc001twx.2	-	13	1447	c.1152C>T	c.(1150-1152)GAC>GAT	p.D384D	TAOK3_uc001tww.2_Silent_p.D214D|TAOK3_uc001twy.3_Silent_p.D384D	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	384	Ser-rich.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGTGCTTTCGTCATCGTGCA	0.502													A	118636898	G	A	118636898	2	1	75	1	0	0	0	0	0	0	0	1	15546	1136	40	1		1	TAOK3	12	118636898	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	5033226	118636898	15214997	895	53106											
TAOK3	51347	broad.mit.edu	37	chr12	118637023	118637023	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaatggttgctgcccaggcTgtccatttccctgttcaggc	12	12	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:118637023T>C	uc001twx.2	-	13	1322	c.1027A>G	c.(1027-1029)AGC>GGC	p.S343G	TAOK3_uc001tww.2_Missense_Mutation_p.S173G|TAOK3_uc001twy.3_Missense_Mutation_p.S343G	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	343	Ser-rich.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGCCCAGGCTGTCCATTTCC	0.493													C	118637023	T	C	118637023	3	2	75	1	0	0	0	0	1	0	0	0	15546	1580	55	3	1705	3	TAOK3	12	118637023	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	125	118637023	15214872	896	53107											
SRRM4	84530	broad.mit.edu	37	chr12	119592100	119592100	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcagcgggagcgcgagCgagcgcgtcggagacgtcgg	20	12	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:119592100C>T	uc001txa.1	+	12	1736	c.1444C>T	c.(1444-1446)CGA>TGA	p.R482*		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	482	Ser-rich.|Arg-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						GGAGCGCGAGCGAGCGCGTCG	0.667													T	119592100	C	T	119592100	4	4	75	1	0	0	0	0	0	1	0	0	15170	760	27	1	1490	1	SRRM4	12	119592100	Nonsense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	955077	119592100	14259795	897	53108											
CCDC60	160777	broad.mit.edu	37	chr12	119773056	119773056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccggcccttttatgcctcGgagaacctaaggcaggtaag	12	11	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:119773056G>A	uc001txe.2	+	1	540	c.75G>A	c.(73-75)TCG>TCA	p.S25S		NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	25										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TTTATGCCTCGGAGAACCTAA	0.408													A	119773056	G	A	119773056	2	1	75	1	0	0	0	0	0	0	0	1	2831	1103	39	1		1	CCDC60	12	119773056	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	180956	119773056	14078839	898	53109											
SPPL3	121665	broad.mit.edu	37	chr12	121206174	121206174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacaggcgaggaacatcacGcccaacattgggccccaggt	12	13	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:121206174G>A	uc001tzd.2	-	8	1208	c.727C>T	c.(727-729)CGT>TGT	p.R243C	SPPL3_uc009zwz.2_Missense_Mutation_p.R236C|SPPL3_uc001tzc.2_Missense_Mutation_p.R73C	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN	signal peptide peptidase 3	244						integral to membrane	aspartic-type endopeptidase activity				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGAACATCACGCCCAACATTG	0.547													A	121206174	G	A	121206174	3	1	75	1	0	0	0	0	1	0	0	0	15089	1087	38	1	443	1	SPPL3	12	121206174	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1433118	121206174	12645721	899	53110											
VPS33A	65082	broad.mit.edu	37	chr12	122750936	122750936	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtttaggttcactcggccgTaggacagatgagccgccatc	12	12	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:122750936T>C	uc001ucd.2	-	1	133	c.20A>G	c.(19-21)TAC>TGC	p.Y7C	VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Missense_Mutation_p.Y7C	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33A	7					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			skin(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CACTCGGCCGTAGGACAGATG	0.662													C	122750936	T	C	122750936	3	2	75	1	0	0	0	0	1	0	0	0	17198	1638	57	3	1822	3	VPS33A	12	122750936	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1544762	122750936	11100959	900	53111											
PITPNM2	57605	broad.mit.edu	37	chr12	123480010	123480010	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgctcctcttgcggggcagTtgccttttggggtcctcagt	13	12	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:123480010T>C	uc001uej.1	-	13	2119	c.1980A>G	c.(1978-1980)CAA>CAG	p.Q660Q	PITPNM2_uc001uek.1_Silent_p.Q660Q	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	660					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGCGGGGCAGTTGCCTTTTGG	0.602													C	123480010	T	C	123480010	2	2	75	1	0	0	0	0	0	0	0	1	11951	1722	60	3		3	PITPNM2	12	123480010	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	729074	123480010	10371885	901	53112											
DNAH10	196385	broad.mit.edu	37	chr12	124256216	124256217	+	Frame_Shift_Del	DEL	AA	AA	-													gagaggatgaagaaatggacAaagagatttcagaaaaactc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:124256215_124256216CAA>C	uc001uft.4	+	2	208_209	c.183_184CAA>C	c.(181-186)gacaaafs	p.D61fs		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	61	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGAAATGGACAAAGAGATTTC	0.441													-	124256217	AA	-	124256216	7	5	75	1	0	1	0	1	0	0	0	0	4598	131	5	0	194	0	DNAH10	12	124256216	Frame_Shift_Del	DEL	AA	TCGA-BR-8363-01A-11D-2340-08	776206	124256216	9595679	902	53113											
DNAH10	196385	broad.mit.edu	37	chr12	124267714	124267714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggtgtctgacctggcagCtgacccggaaaccgttgaca	13	11	1	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:124267714C>T	uc001uft.3	+	7	744	c.719C>T	c.(718-720)GCT>GTT	p.A240V		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	240	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GACCTGGCAGCTGACCCGGAA	0.478													T	124267714	C	T	124267714	3	4	75	1	0	0	0	0	1	0	0	0	4598	797	28	2	745	2	DNAH10	12	124267714	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	11498	124267714	9584181	903	53114											
DNAH10	196385	broad.mit.edu	37	chr12	124330559	124330559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactgggaaagtcagttgcGgttttattgggaccgggagc	16	6	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:124330559G>A	uc001uft.3	+	31	5343	c.5318G>A	c.(5317-5319)CGG>CAG	p.R1773Q		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1773	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGTCAGTTGCGGTTTTATTGG	0.572													A	124330559	G	A	124330559	3	1	75	1	0	0	0	0	1	0	0	0	4598	1116	39	1	5440	1	DNAH10	12	124330559	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	62845	124330559	9521336	904	53115											
TMEM132B	114795	broad.mit.edu	37	chr12	126138173	126138173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacacctttagacatttaCgatcctaaggattattctgt	7	8	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:126138173C>T	uc001uhe.1	+	9	2162	c.2154C>T	c.(2152-2154)TAC>TAT	p.Y718Y	TMEM132B_uc001uhf.1_Silent_p.Y230Y	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	718	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TAGACATTTACGATCCTAAGG	0.403													T	126138173	C	T	126138173	2	4	75	1	0	0	0	0	0	0	0	1	16043	547	19	1		1	TMEM132B	12	126138173	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1807614	126138173	7713722	905	53116											
FZD10	11211	broad.mit.edu	37	chr12	130648605	130648605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctgatcctggtcatgcGcagggtggcgggggacgagc	17	11	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:130648605G>A	uc001uii.2	+	1	1574	c.1118G>A	c.(1117-1119)CGC>CAC	p.R373H	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	373	Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CTGGTCATGCGCAGGGTGGCG	0.652													A	130648605	G	A	130648605	3	1	75	1	0	0	0	0	1	0	0	0	6129	1087	38	1	1120	1	FZD10	12	130648605	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	4510432	130648605	3203290	906	53117											
RIMBP2	23504	broad.mit.edu	37	chr12	130929742	130929742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatccatgtctccatagacGtagaggtattttcccgccgt	8	12	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:130929742G>A	uc001uil.2	-	7	767	c.603C>T	c.(601-603)TAC>TAT	p.Y201Y	RIMBP2_uc001uim.2_Silent_p.Y109Y|RIMBP2_uc001uin.1_5'Flank	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	201	SH3 1.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTCCATAGACGTAGAGGTATT	0.552													A	130929742	G	A	130929742	2	1	75	1	0	0	0	0	0	0	0	1	13363	1140	40	1		1	RIMBP2	12	130929742	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	281137	130929742	2922153	907	53118											
EP400	57634	broad.mit.edu	37	chr12	132475215	132475215	+	Frame_Shift_Del	DEL	A	A	-													actacgagtagaattagaagAaaaaaggaagaaggccttaa							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:132475214_132475214GA>G	uc001ujn.3	+	8	2736	c.2584_2584GA>G	c.(2584-2586)gaafs	p.E862fs	EP400_uc021rgq.1_Frame_Shift_Del_p.E861fs|EP400_uc001ujm.3_Frame_Shift_Del_p.E862fs|EP400_uc001ujj.2_Frame_Shift_Del_p.E825fs|EP400_uc001ujk.3_Frame_Shift_Del_p.E898fs	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	898	HSA.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGAATTAGAAGAAAAAAGGAA	0.373													-	132475215	A	-	132475215	7	5	75	1	0	1	0	1	0	0	0	0	5149	246	9	0	2612	0	EP400	12	132475215	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	1545473	132475215	1376680	908	53119											
CHFR	55743	broad.mit.edu	37	chr12	133435665	133435665	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtcgcacctcacgcagtcGtgcagcaggtcctggcagat	13	14	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:133435665G>A	uc001ulf.2	-	8	1020	c.936C>T	c.(934-936)CAC>CAT	p.H312H	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Silent_p.H300H|CHFR_uc010tbs.1_Silent_p.H312H|CHFR_uc001uld.2_Silent_p.H271H|CHFR_uc010tbt.1_Silent_p.H220H	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	312	RING-type.				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TCACGCAGTCGTGCAGCAGGT	0.612													A	133435665	G	A	133435665	2	1	75	1	0	0	0	0	0	0	0	1	3337	1136	40	1		1	CHFR	12	133435665	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	960450	133435665	416230	909	53120											
LATS2	26524	broad.mit.edu	37	chr13	21562745	21562745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccggaaggccacgtgcgCgcgcggcggcgcctccaggc	18	16	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:21562745C>T	uc009zzs.2	-	4	1539	c.1174G>A	c.(1174-1176)GCG>ACG	p.A392T	LATS2_uc001unr.3_Missense_Mutation_p.A392T	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	392					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GCCACGTGCGCGCGCGGCGGC	0.731													T	21562745	C	T	21562745	3	4	75	1	0	0	0	0	1	0	0	0	8647	768	27	1	2112	1	LATS2	13	21562745	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08		21562745	93607133	910	53121											
C1QTNF9	338872	broad.mit.edu	37	chr13	24892987	24892987	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtcctggcagcccggggaaGgatgggacgagtggagagaa	19	8	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:24892987G>T	uc001upj.2	+	3	259	c.198G>T	c.(196-198)AAG>AAT	p.K66N	C1QTNF9_uc001upe.2_RNA	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	66	Collagen-like 1.					collagen	hormone activity				0		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GCCCGGGGAAGGATGGGACGA	0.463													T	24892987	G	T	24892987	3	4	75	1	0	0	0	0	1	0	0	0	1970	991	35	5	204	5	C1QTNF9	13	24892987	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	3330242	24892987	90276891	911	53122											
MTMR6	9107	broad.mit.edu	37	chr13	25848300	25848300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acttgttgctggtactgaatCggtcaagtaattttacttgt	9	6	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:25848300C>T	uc001uqf.3	-	2	369	c.50G>A	c.(49-51)CGA>CAA	p.R17Q	MTMR6_uc001uqe.1_Missense_Mutation_p.R17Q	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	17						cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)|skin(2)	4		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GGTACTGAATCGGTCAAGTAA	0.333													T	25848300	C	T	25848300	3	4	75	1	0	0	0	0	1	0	0	0	9947	884	31	1	1867	1	MTMR6	13	25848300	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	955313	25848300	89321578	912	53123											
POLR1D	51082	broad.mit.edu	37	chr13	28197194	28197194	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtggaattttgtggttAcactacgacccatccttcag	10	9	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:28197194A>G	uc010tdm.1	+	3	1239	c.209A>G	c.(208-210)TAC>TGC	p.Y70C	LNX2_uc001url.3_5'Flank|LNX2_uc001urm.1_5'Flank|POLR1D_uc010aam.2_Intron|POLR1D_uc001urq.2_Intron|POLR1D_uc001uro.2_Missense_Mutation_p.Y70C|POLR1D_uc001urp.2_Intron	NM_015972	NP_057056	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D isoform 1	70					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		TTTTGTGGTTACACTACGACC	0.448													G	28197194	A	G	28197194	3	3	75	1	0	0	0	0	1	0	0	0	12212	391	14	3	215	3	POLR1D	13	28197194	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	2348894	28197194	86972684	913	53124											
HSPH1	10808	broad.mit.edu	37	chr13	31711655	31711655	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgggttcacatgtgttgtTcaattcctaaagaaaacaaa	7	7	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:31711655T>C	uc001utj.2	-	18	2775	c.2377A>G	c.(2377-2379)AAC>GAC	p.N793D	HSPH1_uc001utk.2_Missense_Mutation_p.N749D|HSPH1_uc010aaw.2_Missense_Mutation_p.N752D|HSPH1_uc001utl.2_Missense_Mutation_p.N795D|HSPH1_uc010tds.1_Missense_Mutation_p.N717D	NM_006644	NP_006635	Q92598	HS105_HUMAN	heat shock 105kD	793					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding				0		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CATGTGTTGTTCAATTCCTAA	0.358													C	31711655	T	C	31711655	3	2	75	1	0	0	0	0	1	0	0	0	7431	1783	62	3	203	3	HSPH1	13	31711655	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	3514461	31711655	83458223	914	53125											
FRY	10129	broad.mit.edu	37	chr13	32841309	32841309	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttttcattttttccagctTtggagaaggtgacaggggag	13	6	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:32841309T>C	uc001utx.2	+	55	8445	c.7949T>C	c.(7948-7950)TTT>TCT	p.F2650S	FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Missense_Mutation_p.F205S|FRY_uc001utz.2_Missense_Mutation_p.F175S|FRY_uc010tdx.1_Missense_Mutation_p.F20S	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTTTCCAGCTTTGGAGAAGGT	0.512													C	32841309	T	C	32841309	3	2	75	1	0	0	0	0	1	0	0	0	6063	1841	64	3	8167	3	FRY	13	32841309	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1129654	32841309	82328569	915	53126											
STARD13	90627	broad.mit.edu	37	chr13	33686968	33686968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaccaagttgacgacgtcGttcaggaaacacaagagcgt	10	11	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:33686968G>A	uc001uuw.2	-	9	2508	c.2382C>T	c.(2380-2382)AAC>AAT	p.N794N	STARD13_uc001uuu.2_Silent_p.N786N|STARD13_uc001uuv.2_Silent_p.N676N|STARD13_uc001uux.2_Silent_p.N759N|STARD13_uc010tec.1_RNA	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	794	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TGACGACGTCGTTCAGGAAAC	0.532													A	33686968	G	A	33686968	2	1	75	1	0	0	0	0	0	0	0	1	15255	1136	40	1		1	STARD13	13	33686968	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	845659	33686968	81482910	916	53127											
RFC3	5983	broad.mit.edu	37	chr13	34409330	34409330	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgagcttctaactcattgTattcctcctgagataataat	5	8	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:34409330T>C	uc001uuz.2	+	8	965	c.855T>C	c.(853-855)TGT>TGC	p.C285C	RFC3_uc001uva.2_Silent_p.C285C|RFC3_uc010ted.1_Silent_p.C285C	NM_002915	NP_002906	P40938	RFC3_HUMAN	replication factor C 3 isoform 1	285					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding				0		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		TAACTCATTGTATTCCTCCTG	0.353													C	34409330	T	C	34409330	2	2	75	1	0	0	0	0	0	0	0	1	13246	1644	57	3		3	RFC3	13	34409330	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	722362	34409330	80760548	917	53128											
FREM2	341640	broad.mit.edu	37	chr13	39448722	39448722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatttgtgctgtcacatccCggtaagccccgttatctttt	7	11	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:39448722C>T	uc001uwv.2	+	18	8589	c.8280C>T	c.(8278-8280)CCC>CCT	p.P2760P		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2760	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGTCACATCCCGGTAAGCCCC	0.498													T	39448722	C	T	39448722	2	4	75	1	0	0	0	0	0	0	0	1	6045	666	23	1		1	FREM2	13	39448722	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	5039392	39448722	75721156	918	53129											
C13orf23	80209	broad.mit.edu	37	chr13	39586878	39586878	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggaactgaatgctgaggcGaatcctgggaggactggagc	16	7	0	2	rs148439666	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:39586878G>A	uc001uwy.2	-	11	3384	c.2511C>T	c.(2509-2511)TTC>TTT	p.F837F	C13orf23_uc001uwz.2_Silent_p.F815F	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	837										ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)		ATGCTGAGGCGAATCCTGGGA	0.532													A	39586878	G	A	39586878	2	1	75	1	0	0	0	0	0	0	0	1	1721	1049	37	1		1	C13orf23	13	39586878	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	138156	39586878	75583000	919	53130											
KIAA1704	55425	broad.mit.edu	37	chr13	45602033	45602033	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatttgaccgtgataaagaTctcaaggttaatcggtttga	9	7	1	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:45602033T>C	uc001uzq.2	+	8	1021	c.918T>C	c.(916-918)GAT>GAC	p.D306D	KIAA1704_uc001uzr.1_Silent_p.D306D|KIAA1704_uc001uzs.2_Silent_p.D183D|KIAA1704_uc001uzt.2_Silent_p.D157D	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	hypothetical protein LOC55425	306										pancreas(1)|skin(1)	2		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		GTGATAAAGATCTCAAGGTTA	0.348													C	45602033	T	C	45602033	2	2	75	1	0	0	0	0	0	0	0	1	8252	1432	50	3		3	KIAA1704	13	45602033	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	6015155	45602033	69567845	920	53131											
RB1	5925	broad.mit.edu	37	chr13	48955538	48955538	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgataaaacatttagaaCgatgtgaacatcgaatcatg	7	5	1	3	rs121913303		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:48955538C>T	uc001vcb.2	+	17	1820	c.1654C>T	c.(1654-1656)CGA>TGA	p.R552*		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	552	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(7)|p.R552*(5)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACATTTAGAACGATGTGAACA	0.323	R552*(NCIH1048_LUNG)	6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	48955538	C	T	48955538	4	4	75	1	0	0	0	0	0	1	0	0	13098	528	19	1	1720	1	RB1	13	48955538	Nonsense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3353505	48955538	66214340	921	53132											
UTP14C	9724	broad.mit.edu	37	chr13	52603836	52603836	+	Frame_Shift_Del	DEL	A	A	-													aagaatgagccttaagcaccAaaacagtgggaaatgggcca							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:52603835_52603835CA>C	uc001vgb.3	+	1	1457	c.895_895CA>C	c.(895-897)caafs	p.Q299fs	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Frame_Shift_Del_p.Q299fs	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	299					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CCTTAAGCACCAAAACAGTGG	0.438													-	52603836	A	-	52603836	7	5	75	1	0	1	0	1	0	0	0	0	17093	130	5	0	898	0	UTP14C	13	52603836	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	3648298	52603836	62566042	922	53133											
UTP14C	9724	broad.mit.edu	37	chr13	52604660	52604660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccttccgtgaggtctttgGcagttcccacaataatagag	9	11	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:52604660G>A	uc001vgb.2	+	2	2255	c.1720G>A	c.(1720-1722)GCA>ACA	p.A574T	UTP14C_uc001vgc.2_RNA	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	574					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				ovary(3)|large_intestine(1)|breast(1)	5		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GAGGTCTTTGGCAGTTCCCAC	0.463													A	52604660	G	A	52604660	3	1	75	1	0	0	0	0	1	0	0	0	17093	1203	42	2	1722	2	UTP14C	13	52604660	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	824	52604660	62565218	923	53134											
THSD1	55901	broad.mit.edu	37	chr13	52952340	52952340	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggctgctccggaaatggggAtttgatccggaacttgtttg	15	7	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:52952340A>T	uc001vgo.2	-	5	2310	c.1765T>A	c.(1765-1767)TCC>ACC	p.S589T	THSD1_uc001vgp.2_Missense_Mutation_p.S536T|THSD1_uc010tgz.1_Missense_Mutation_p.S210T|THSD1_uc010aea.2_Missense_Mutation_p.S50T	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	589	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GGAAATGGGGATTTGATCCGG	0.587													T	52952340	A	T	52952340	3	4	75	1	0	0	0	0	1	0	0	0	15874	333	12	5	797	5	THSD1	13	52952340	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	347680	52952340	62217538	924	53135											
PCDH17	27253	broad.mit.edu	37	chr13	58208417	58208417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctagacgtgaatgacaaCgcgccagtgatcgtgctccc	12	12	0	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:58208417C>T	uc001vhq.1	+	1	2629	c.1737C>T	c.(1735-1737)AAC>AAT	p.N579N	PCDH17_uc010aec.1_Silent_p.N579N	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	579	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGAATGACAACGCGCCAGTGA	0.642													T	58208417	C	T	58208417	2	4	75	1	0	0	0	0	0	0	0	1	11512	535	19	1		1	PCDH17	13	58208417	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	5256077	58208417	56961461	925	53136											
PCDH17	27253	broad.mit.edu	37	chr13	58299089	58299089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcgtgcatcgagccttgCacctcaacaaaaggctccct	9	14	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:58299089C>T	uc001vhq.1	+	4	4033	c.3141C>T	c.(3139-3141)TGC>TGT	p.C1047C	PCDH17_uc010aec.1_Silent_p.C1046C|PCDH17_uc001vhr.1_Silent_p.C136C	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	1047	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCGAGCCTTGCACCTCAACAA	0.532													T	58299089	C	T	58299089	2	4	75	1	0	0	0	0	0	0	0	1	11512	718	25	2		2	PCDH17	13	58299089	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	90672	58299089	56870789	926	53137											
MYCBP2	23077	broad.mit.edu	37	chr13	77641917	77641917	+	Frame_Shift_Del	DEL	G	G	-													tgatatcactgatatctgctGgggggagggatttcactcct							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:77641916_77641916TG>T	uc021rks.1	-	70	12522	c.12255_12255CA>A	c.(12253-12255)ccafs	p.P4085fs	MYCBP2_uc010aev.3_Frame_Shift_Del_p.P3451fs|MYCBP2_uc001vke.3_Frame_Shift_Del_p.P664fs	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	4047					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGATATCTGCTGGGGGGAGGG	0.438													-	77641917	G	-	77641917	7	5	75	1	0	1	0	1	0	0	0	0	10018	1348	47	0	1834	0	MYCBP2	13	77641917	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	19342828	77641917	37527961	927	53138											
SLITRK1	114798	broad.mit.edu	37	chr13	84453562	84453562	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggttggggtcttagtctgagAgcgagtgagagccacagtca	16	7	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:84453562A>T	uc001vlk.2	-	1	2967	c.2081T>A	c.(2080-2082)CTC>CAC	p.L694H		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	694	Cytoplasmic (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTAGTCTGAGAGCGAGTGAGA	0.582													T	84453562	A	T	84453562	3	4	75	1	0	0	0	0	1	0	0	0	14742	304	11	5	13	5	SLITRK1	13	84453562	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	6811645	84453562	30716316	928	53139											
SLC10A2	6555	broad.mit.edu	37	chr13	103703715	103703715	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggagcaatgatccaggcgCtttggtacaatattcctcca	10	10	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:103703715C>A	uc001vpy.3	-	4	1250	c.653G>T	c.(652-654)AGC>ATC	p.S218I		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid	218	Cytoplasmic (Potential).				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(3)|skin(1)	4	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GATCCAGGCGCTTTGGTACAA	0.478													A	103703715	C	A	103703715	3	1	75	1	0	0	0	0	1	0	0	0	14374	797	28	5	405	5	SLC10A2	13	103703715	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	19250153	103703715	11466163	929	53140											
ARGLU1	55082	broad.mit.edu	37	chr13	107220225	107220225	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgcttgctgctcttggTgtgcttggagcgggacgagc	17	8	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:107220225T>C	uc001vqk.3	-	1	290	c.43A>G	c.(43-45)ACC>GCC	p.T15A		NM_018011	NP_060481	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	15	Arg-rich.										0	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CTGCTCTTGGTGTGCTTGGAG	0.657													C	107220225	T	C	107220225	3	2	75	1	0	0	0	0	1	0	0	0	860	1696	59	3	794	3	ARGLU1	13	107220225	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	3516510	107220225	7949653	930	53141											
MYO16	23026	broad.mit.edu	37	chr13	109793685	109793685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcggggaggagtgtgcttCggaaatccgcggcgggaaga	18	8	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:109793685C>T	uc001vqt.1	+	32	5185	c.5059C>T	c.(5059-5061)CGG>TGG	p.R1687W	MYO16_uc010agk.1_Missense_Mutation_p.R1709W	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1687					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GAGTGTGCTTCGGAAATCCGC	0.637													T	109793685	C	T	109793685	3	4	75	1	0	0	0	0	1	0	0	0	10064	875	31	1	5181	1	MYO16	13	109793685	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2573460	109793685	5376193	931	53142											
COL4A1	1282	broad.mit.edu	37	chr13	110829295	110829295	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccaccttatccatggagcCaggcttgccagggagaccga	12	13	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:110829295C>A	uc001vqw.3	-	34	2928	c.2806G>T	c.(2806-2808)GGC>TGC	p.G936C	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	936	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCCATGGAGCCAGGCTTGCCA	0.592													A	110829295	C	A	110829295	3	1	75	1	0	0	0	0	1	0	0	0	3689	594	21	5	2279	5	COL4A1	13	110829295	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1035610	110829295	4340583	932	53143											
PROZ	8858	broad.mit.edu	37	chr13	113826335	113826335	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacgggggtcctgggctcGcagccagtaggagggcaggc	18	12	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:113826335G>A	uc001vta.1	+	8	1126	c.1119G>A	c.(1117-1119)TCG>TCA	p.S373S	PROZ_uc010agr.1_Silent_p.S395S	NM_003891	NP_003882	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma	373	Peptidase S1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TCCTGGGCTCGCAGCCAGTAG	0.552													A	113826335	G	A	113826335	2	1	75	1	0	0	0	0	0	0	0	1	12562	1074	38	1		1	PROZ	13	113826335	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2997040	113826335	1343543	933	53144											
TEP1	7011	broad.mit.edu	37	chr14	20846923	20846923	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caagtcttacctttaggcatCctcccaagcacacggtggct	8	14	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:20846923C>A	uc001vxe.2	-	37	5382	c.5342G>T	c.(5341-5343)GGA>GTA	p.G1781V	TEP1_uc010ahk.2_Missense_Mutation_p.G1124V|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.G1673V|TEP1_uc010tlh.1_Missense_Mutation_p.G119V	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1781	WD 4.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTTTAGGCATCCTCCCAAGCA	0.582													A	20846923	C	A	20846923	3	1	75	1	0	0	0	0	1	0	0	0	15756	855	30	5	2617	5	TEP1	14	20846923	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08		20846923	86502617	934	53145											
RNASE10	338879	broad.mit.edu	37	chr14	20978775	20978775	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaattttggtccagtgacTcacaggacaaagctgaggcc	11	9	1	3	rs147896742		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:20978775T>G	uc010tlj.1	+	1	145	c.145T>G	c.(145-147)TCA>GCA	p.S49A	RNASE10_uc001vxp.2_Missense_Mutation_p.S77A	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	49						extracellular region	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		GTCCAGTGACTCACAGGACAA	0.433													G	20978775	T	G	20978775	3	3	75	1	0	0	0	0	1	0	0	0	13400	1551	54	5	147	5	RNASE10	14	20978775	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	131852	20978775	86370765	935	53146											
CHD8	57680	broad.mit.edu	37	chr14	21861975	21861975	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggggcagtggtgaggcAgtgcgtgaggtatactgctg	19	7	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:21861975A>C	uc001was.1	-	32	5236	c.5142T>G	c.(5140-5142)ACT>ACG	p.T1714T	CHD8_uc001war.1_Silent_p.T1610T|SNORD9_uc001wat.1_5'Flank	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1993					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GTGGTGAGGCAGTGCGTGAGG	0.552													C	21861975	A	C	21861975	2	2	75	1	0	0	0	0	0	0	0	1	3331	175	7	5		5	CHD8	14	21861975	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	883200	21861975	85487565	936	53147											
RAB2B	84932	broad.mit.edu	37	chr14	21944703	21944703	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttacctattgtgaggtcgtgGacaggctggaaccgcttatc	12	9	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:21944703G>A	uc010tlt.1	-	2	203	c.102C>T	c.(100-102)GTC>GTT	p.V34V	RAB2B_uc010tls.1_5'UTR|RAB2B_uc001wax.2_5'UTR|RAB2B_uc010ain.2_5'UTR|TOX4_uc001way.2_5'Flank|TOX4_uc001waz.2_5'Flank|TOX4_uc001wba.2_5'Flank|TOX4_uc010tlu.1_5'Flank	NM_032846	NP_116235	Q8WUD1	RAB2B_HUMAN	RAB2B protein isoform 1	34					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding			ovary(1)	1	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		TGAGGTCGTGGACAGGCTGGA	0.478													A	21944703	G	A	21944703	2	1	75	1	0	0	0	0	0	0	0	1	12918	1161	41	4		4	RAB2B	14	21944703	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	82728	21944703	85404837	937	53148											
OR10G2	26534	broad.mit.edu	37	chr14	22102925	22102926	+	Frame_Shift_Ins	INS	-	-	G													gaggaggcttcttagatttgINSgggggtgagacaaacccaga					rs150140072		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:22102924_22102925T>TG	uc010tmc.2	-	0	74_75	c.74_75A>CA	c.(73-75)ccafs	p.P25fs		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P25T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTCTTAGATTTGGGGGGTGAGA	0.48													G	22102926	-	G	22102925	7	5	75	1	0	1	1	0	0	0	0	0	10899	1348	47	0	861	0	OR10G2	14	22102925	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	158222	22102925	85246615	938	53149											
IL25	64806	broad.mit.edu	37	chr14	23845042	23845042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggagcgcaggctgtacCgtgtttccttagcttgtgtg	14	10	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:23845042C>T	uc001wjr.2	+	2	797	c.487C>T	c.(487-489)CGT>TGT	p.R163C	IL25_uc001wjq.2_Missense_Mutation_p.R147C|CMTM5_uc001wjs.2_5'Flank|CMTM5_uc001wjt.2_5'Flank|CMTM5_uc010akm.2_5'Flank|CMTM5_uc010akn.2_5'Flank|CMTM5_uc001wju.2_5'Flank|CMTM5_uc010ako.2_5'Flank	NM_022789	NP_073626	Q9H293	IL25_HUMAN	interleukin 25 isoform 1 precursor	163					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			ovary(1)	1	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		CAGGCTGTACCGTGTTTCCTT	0.612													T	23845042	C	T	23845042	3	4	75	1	0	0	0	0	1	0	0	0	7678	652	23	1	506	1	IL25	14	23845042	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1742117	23845042	83504498	939	53150											
NFATC4	4776	broad.mit.edu	37	chr14	24839415	24839415	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgtggcaagcggcgcTattccagctcgggaacccca	11	15	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:24839415T>C	uc001wpc.2	+	2	1132	c.811T>C	c.(811-813)TAT>CAT	p.Y271H	NFATC4_uc010tok.1_Missense_Mutation_p.Y334H|NFATC4_uc010tol.1_Missense_Mutation_p.Y334H|NFATC4_uc010alr.2_Missense_Mutation_p.Y334H|NFATC4_uc010als.2_Missense_Mutation_p.Y284H|NFATC4_uc010tom.1_Missense_Mutation_p.Y284H|NFATC4_uc010ton.1_Missense_Mutation_p.Y284H|NFATC4_uc010too.1_Missense_Mutation_p.Y284H|NFATC4_uc010alt.2_Missense_Mutation_p.Y303H|NFATC4_uc010top.1_Missense_Mutation_p.Y303H|NFATC4_uc010toq.1_Missense_Mutation_p.Y303H|NFATC4_uc010alu.2_Intron|NFATC4_uc010tor.1_Missense_Mutation_p.Y271H|NFATC4_uc010tos.1_Missense_Mutation_p.Y201H|NFATC4_uc010tot.1_Missense_Mutation_p.Y259H|NFATC4_uc010tou.1_Missense_Mutation_p.Y201H|NFATC4_uc010tov.1_Missense_Mutation_p.Y259H|NFATC4_uc010tow.1_Missense_Mutation_p.Y201H|NFATC4_uc010alv.2_Missense_Mutation_p.Y259H|NFATC4_uc010tox.1_Missense_Mutation_p.Y201H|NFATC4_uc001wpd.2_5'Flank|NFATC4_uc010toy.1_5'Flank|NFATC4_uc010toz.1_5'Flank	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	271	Pro-rich.|2 approximate SP repeats.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		CAAGCGGCGCTATTCCAGCTC	0.697													C	24839415	T	C	24839415	3	2	75	1	0	0	0	0	1	0	0	0	10365	1522	53	3	1010	3	NFATC4	14	24839415	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	994373	24839415	82510125	940	53151											
SCFD1	23256	broad.mit.edu	37	chr14	31177207	31177207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctacctagtcttttatcacGagtcatgaatacaggatcac	6	11	4	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:31177207G>A	uc001wqm.1	+	19	1589	c.1565G>A	c.(1564-1566)CGA>CAA	p.R522Q	SCFD1_uc001wqn.1_Missense_Mutation_p.R455Q|SCFD1_uc010tpg.1_Missense_Mutation_p.R463Q|SCFD1_uc010tph.1_Missense_Mutation_p.R337Q|SCFD1_uc010amf.1_Missense_Mutation_p.R337Q|SCFD1_uc010tpi.1_Missense_Mutation_p.R430Q|SCFD1_uc010amd.1_Intron|SCFD1_uc010ame.1_Missense_Mutation_p.R455Q	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	vesicle transport-related protein isoform a	522					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding				0	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CTTTTATCACGAGTCATGAAT	0.378													A	31177207	G	A	31177207	3	1	75	1	0	0	0	0	1	0	0	0	13889	1058	37	1	1639	1	SCFD1	14	31177207	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	6337792	31177207	76172333	941	53152											
INSM2	84684	broad.mit.edu	37	chr14	36003563	36003563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggccccagggggcgccGcccttcttggaggaggctcc	17	15	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:36003563G>A	uc001wth.1	+	1	316	c.105G>A	c.(103-105)CCG>CCA	p.P35P		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		AGGGGGCGCCGCCCTTCTTGG	0.692													A	36003563	G	A	36003563	2	1	75	1	0	0	0	0	0	0	0	1	7772	1074	38	1		1	INSM2	14	36003563	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	4826356	36003563	71345977	942	53153											
PAX9	5083	broad.mit.edu	37	chr14	37135670	37135670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcttctctccatcagtgaGcgacagctccccctaccaca	5	18	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:37135670G>A	uc001wty.3	+	4	1352	c.635G>A	c.(634-636)AGC>AAC	p.S212N	PAX9_uc010amq.2_RNA	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	212					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CCATCAGTGAGCGACAGCTCC	0.692													A	37135670	G	A	37135670	3	1	75	1	0	0	0	0	1	0	0	0	11486	971	34	2	645	2	PAX9	14	37135670	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1132107	37135670	70213870	943	53154											
SSTR1	6751	broad.mit.edu	37	chr14	38679010	38679010	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctcagcgtggacgcggTcaacatgttcaccagcatct	11	13	4	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:38679010T>G	uc001wul.1	+	3	1033	c.416T>G	c.(415-417)GTC>GGC	p.V139G	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	139	Helical; Name=3; (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			central_nervous_system(3)|ovary(1)|lung(1)	5	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GTGGACGCGGTCAACATGTTC	0.652													G	38679010	T	G	38679010	3	3	75	1	0	0	0	0	1	0	0	0	15196	1667	58	5	418	5	SSTR1	14	38679010	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1543340	38679010	68670530	944	53155											
MIA2	117153	broad.mit.edu	37	chr14	39716566	39716566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagtggaagatgagaatgAcctagaggaattaaataatg	12	3	0	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:39716566A>G	uc001wux.2	+	4	982	c.788A>G	c.(787-789)GAC>GGC	p.D263G	MIA2_uc010amy.1_Missense_Mutation_p.D194G	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	263						extracellular region				ovary(1)|breast(1)	2	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		GATGAGAATGACCTAGAGGAA	0.393													G	39716566	A	G	39716566	3	3	75	1	0	0	0	0	1	0	0	0	9564	275	10	3	802	3	MIA2	14	39716566	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1037556	39716566	67632974	945	53156											
KLHL28	54813	broad.mit.edu	37	chr14	45414260	45414260	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaggcaaagagtccagatTtccctcctactgcacaaagt	7	12	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:45414260T>C	uc001wvq.2	-	2	1118	c.872A>G	c.(871-873)AAA>AGA	p.K291R	KLHL28_uc001wvr.2_Missense_Mutation_p.K291R|KLHL28_uc001wvt.3_Missense_Mutation_p.K291R	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	291	Kelch 1.									ovary(1)	1						GAGTCCAGATTTCCCTCCTAC	0.388													C	45414260	T	C	45414260	3	2	75	1	0	0	0	0	1	0	0	0	8382	1841	64	3	859	3	KLHL28	14	45414260	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	5697694	45414260	61935280	946	53157											
PSMC6	5706	broad.mit.edu	37	chr14	53177863	53177863	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaagagttgctttggaTatgactacactaactatcat	8	7	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:53177863T>C	uc010tqx.1	+	5	345	c.345T>C	c.(343-345)GAT>GAC	p.D115D	PSMC6_uc010tqw.1_Silent_p.D81D	NM_002806	NP_002797	P62333	PRS10_HUMAN	proteasome 26S ATPase subunit 6	101					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			lung(1)	1	Breast(41;0.176)					TTGCTTTGGATATGACTACAC	0.333													C	53177863	T	C	53177863	2	2	75	1	0	0	0	0	0	0	0	1	12691	1403	49	3		3	PSMC6	14	53177863	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	7763603	53177863	54171677	947	53158											
DAAM1	23002	broad.mit.edu	37	chr14	59819321	59819321	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaactggatcggatggccaaGgctgataggttcctttttga	13	7	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:59819321G>T	uc001xdz.1	+	19	2393	c.2268G>T	c.(2266-2268)AAG>AAT	p.K756N	DAAM1_uc001xea.1_Missense_Mutation_p.K746N|DAAM1_uc001xec.1_5'Flank	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	756	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GGATGGCCAAGGCTGATAGGT	0.393													T	59819321	G	T	59819321	3	4	75	1	0	0	0	0	1	0	0	0	4215	991	35	5	2338	5	DAAM1	14	59819321	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	6641458	59819321	47530219	948	53159											
HSPA2	3306	broad.mit.edu	37	chr14	65009256	65009256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagacgagaaactgaggggCaagattagcgagcaggacaa	15	6	0	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:65009256C>T	uc001xhj.2	+	2	1765	c.1689C>T	c.(1687-1689)GGC>GGT	p.G563G	HSPA2_uc001xhk.3_Silent_p.G563G	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	563					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)		AACTGAGGGGCAAGATTAGCG	0.522													T	65009256	C	T	65009256	2	4	75	1	0	0	0	0	0	0	0	1	7411	697	25	2		2	HSPA2	14	65009256	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	5189935	65009256	42340284	949	53160											
C14orf50	145376	broad.mit.edu	37	chr14	65055877	65055877	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcttttcacagagttggcAtcttgggggagcctcgatgt	12	8	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:65055877A>G	uc001xhl.1	+	12	1186	c.1090A>G	c.(1090-1092)ATC>GTC	p.I364V	C14orf50_uc001xhm.1_Missense_Mutation_p.I94V	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	hypothetical protein LOC145376	364										skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)		CAGAGTTGGCATCTTGGGGGA	0.423													G	65055877	A	G	65055877	3	3	75	1	0	0	0	0	1	0	0	0	1777	217	8	3	1136	3	C14orf50	14	65055877	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	46621	65055877	42293663	950	53161											
FNTB	2342	broad.mit.edu	37	chr14	65507524	65507524	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaggtgtcagaactgggaaGgtggcattggcggggtacca	17	6	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:65507524G>T	uc001xia.2	+	8	874	c.709G>T	c.(709-711)GGT>TGT	p.G237C	FNTB_uc010tsl.1_Missense_Mutation_p.G271C|FNTB_uc010tsm.1_Missense_Mutation_p.G191C|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Translation_Start_Site|FNTB_uc010tso.1_Missense_Mutation_p.G152C	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	237	PFTB 3.				protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GAACTGGGAAGGTGGCATTGG	0.532													T	65507524	G	T	65507524	3	4	75	1	0	0	0	0	1	0	0	0	5978	1000	35	5	739	5	FNTB	14	65507524	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	451647	65507524	41842016	951	53162											
C14orf181	400223	broad.mit.edu	37	chr14	69262698	69262698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacggtgcaggaaggccgagGcgaggcgtgcgtggccgtcc	19	11	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:69262698G>A	uc001xkj.1	-	1	493	c.314C>T	c.(313-315)GCC>GTC	p.A105V	ZFP36L1_uc001xkh.1_5'Flank|ZFP36L1_uc001xki.1_5'Flank	NM_207442	NP_997325			hypothetical protein LOC400223												0				all cancers(60;0.002)|BRCA - Breast invasive adenocarcinoma(234;0.00204)|OV - Ovarian serous cystadenocarcinoma(108;0.0399)		GAAGGCCGAGGCGAGGCGTGC	0.756													A	69262698	G	A	69262698	3	1	75	1	0	0	0	0	1	0	0	0	1764	1203	42	2	190	2	C14orf181	14	69262698	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	3755174	69262698	38086842	952	53163											
ALDH6A1	4329	broad.mit.edu	37	chr14	74551092	74551092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgccgccgccaatagcgcCgccatggctctcggccgccc	12	21	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:74551092C>T	uc001xpo.2	-	1	105	c.6G>A	c.(4-6)GCG>GCA	p.A2A	LIN52_uc001xpp.2_5'Flank|LIN52_uc010asb.2_5'Flank|ALDH6A1_uc010asa.2_5'UTR|ALDH6A1_uc010tuq.1_Silent_p.A2A	NM_005589	NP_005580	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6A1 precursor	2						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	CCAATAGCGCCGCCATGGCTC	0.672													T	74551092	C	T	74551092	2	4	75	1	0	0	0	0	0	0	0	1	503	639	23	1		1	ALDH6A1	14	74551092	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	5288394	74551092	32798448	953	53164											
LTBP2	4053	broad.mit.edu	37	chr14	74968213	74968213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggtgtagccctcccgcaCgcgcacacagcggccattct	10	17	1	0	rs149242944		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:74968213C>T	uc001xqa.2	-	35	5638	c.5251G>A	c.(5251-5253)GTG>ATG	p.V1751M		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1751	EGF-like 19; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCCTCCCGCACGCGCACACAG	0.622											OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	74968213	C	T	74968213	3	4	75	1	0	0	0	0	1	0	0	0	9074	536	19	1	222	1	LTBP2	14	74968213	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	417121	74968213	32381327	954	53165											
TTLL5	23093	broad.mit.edu	37	chr14	76156621	76156621	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcaaggcttttcacatccTcccccagaccttcctcctgc	4	18	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:76156621T>C	uc001xrx.2	+	6	663	c.458T>C	c.(457-459)CTC>CCC	p.L153P	TTLL5_uc001xrw.1_Missense_Mutation_p.L153P|TTLL5_uc010ask.1_Missense_Mutation_p.L153P	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	153	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTTCACATCCTCCCCCAGACC	0.458													C	76156621	T	C	76156621	3	2	75	1	0	0	0	0	1	0	0	0	16727	1551	54	3	476	3	TTLL5	14	76156621	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1188408	76156621	31192919	955	53166											
DIO2	1734	broad.mit.edu	37	chr14	80669474	80669474	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagtggctgagccaaagTtgaccactagtgggcgctca	13	10	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:80669474T>G	uc010tvq.1	-	3	782	c.380A>C	c.(379-381)AAC>ACC	p.N127T	DIO2_uc010tvp.1_Missense_Mutation_p.N163T|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_3'UTR|DIO2_uc010tvr.1_Missense_Mutation_p.N127T|DIO2_uc010asy.2_Missense_Mutation_p.N127T	NM_000793	NP_000784	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II isoform a	127					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGAGCCAAAGTTGACCACTAG	0.567											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	80669474	T	G	80669474	3	3	75	1	0	0	0	0	1	0	0	0	4525	1725	60	5	445	5	DIO2	14	80669474	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	4512853	80669474	26680066	956	53167											
C14orf145	145508	broad.mit.edu	37	chr14	80963868	80963868	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgaacttgttccattcAttgtggcatcttccttgttt	8	8	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:80963868A>G	uc001xux.2	-	24	3410	c.3239T>C	c.(3238-3240)ATG>ACG	p.M1080T	C14orf145_uc010asz.1_Intron	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	1080						centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		TGTTCCATTCATTGTGGCATC	0.328													G	80963868	A	G	80963868	3	3	75	1	0	0	0	0	1	0	0	0	1749	217	8	3	49	3	C14orf145	14	80963868	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	294394	80963868	26385672	957	53168											
SEL1L	6400	broad.mit.edu	37	chr14	81952771	81952771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataagcctttcagaccaacGgcctcgttcacatacattct	5	14	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:81952771G>A	uc010tvv.1	-	17	1777	c.1660C>T	c.(1660-1662)CGT>TGT	p.R554C		NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	554	Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Sel1-like 9.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TCAGACCAACGGCCTCGTTCA	0.408													A	81952771	G	A	81952771	3	1	75	1	0	0	0	0	1	0	0	0	14010	1116	39	1	744	1	SEL1L	14	81952771	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	988903	81952771	25396769	958	53169											
ADSSL1	122622	broad.mit.edu	37	chr14	105207519	105207519	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatgtatgaggcactccaCggcccccccaagaagatcct	8	14	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:105207519C>T	uc001ypd.2	+	8	806	c.732C>T	c.(730-732)CAC>CAT	p.H244H	INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Silent_p.H287H|ADSSL1_uc001ypf.2_RNA	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1 isoform 2	244					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(1)|central_nervous_system(1)	2		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	AGGCACTCCACGGCCCCCCCA	0.592													T	105207519	C	T	105207519	2	4	75	1	0	0	0	0	0	0	0	1	348	535	19	1		1	ADSSL1	14	105207519	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	23254748	105207519	2142021	959	53170											
PACS2	23241	broad.mit.edu	37	chr14	105834470	105834470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggaggccagtgacgacGccgtgcaggggcaggtgacc	18	11	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:105834470G>A	uc001yqt.2	+	6	821	c.646G>A	c.(646-648)GCC>ACC	p.A216T	PACS2_uc001yqs.2_Missense_Mutation_p.A149T|PACS2_uc001yqv.2_Missense_Mutation_p.A216T|PACS2_uc001yqu.2_Missense_Mutation_p.A216T	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	216					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CAGTGACGACGCCGTGCAGGG	0.647													A	105834470	G	A	105834470	3	1	75	1	0	0	0	0	1	0	0	0	11373	1087	38	1	668	1	PACS2	14	105834470	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	626951	105834470	1515070	960	53171											
ATP10A	57194	broad.mit.edu	37	chr15	25961952	25961952	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgatgaagaaatcaaagacGtcagacagctcaggcgagag	13	8	3	5			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:25961952G>A	uc010ayu.2	-	9	1807	c.1701C>T	c.(1699-1701)GAC>GAT	p.D567D		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	567	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AATCAAAGACGTCAGACAGCT	0.577													A	25961952	G	A	25961952	2	1	75	1	0	0	0	0	0	0	0	1	1116	1136	40	1		1	ATP10A	15	25961952	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08		25961952	76569440	961	53172											
HERC2	8924	broad.mit.edu	37	chr15	28413654	28413654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actagccatcgcagatgcgtCggaaggggccgccgaggaga	16	11	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:28413654C>T	uc001zbj.2	-	67	10418	c.10312G>A	c.(10312-10314)GAC>AAC	p.D3438N		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3438					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCAGATGCGTCGGAAGGGGCC	0.577													T	28413654	C	T	28413654	3	4	75	1	0	0	0	0	1	0	0	0	7058	884	31	1	4300	1	HERC2	15	28413654	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2451702	28413654	74117738	962	53173											
MTMR15	22909	broad.mit.edu	37	chr15	31217442	31217442	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgagctgtaaaaagtTcaagcacctcttccagcagc	8	13	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:31217442T>C	uc001zff.2	+	9	2576	c.2285T>C	c.(2284-2286)TTC>TCC	p.F762S	MTMR15_uc001zfe.2_Missense_Mutation_p.F367S	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	762					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		TGTAAAAAGTTCAAGCACCTC	0.567								Direct_reversal_of_damage|Editing_and_processing_nucleases					C	31217442	T	C	31217442	3	2	75	1	0	0	0	0	1	0	0	0	9943	1783	62	3	2340	3	MTMR15	15	31217442	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	2803788	31217442	71313950	963	53174											
RYR3	6263	broad.mit.edu	37	chr15	34130198	34130198	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatctttctgaacacatgcCaaacgattcccgcctgaagt	6	12	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:34130198C>A	uc001zhi.2	+	89	12087	c.12017C>A	c.(12016-12018)CCA>CAA	p.P4006Q	RYR3_uc010bar.2_Missense_Mutation_p.P4001Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4006					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAACACATGCCAAACGATTCC	0.463													A	34130198	C	A	34130198	3	1	75	1	0	0	0	0	1	0	0	0	13770	594	21	5	12371	5	RYR3	15	34130198	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2912756	34130198	68401194	964	53175											
RYR3	6263	broad.mit.edu	37	chr15	34150100	34150100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgagcccgatatgaagtgCgacgacatgatgacggtgag	15	8	0	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:34150100C>T	uc001zhi.2	+	99	14197	c.14127C>T	c.(14125-14127)TGC>TGT	p.C4709C	RYR3_uc010bar.2_Silent_p.C4704C	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4709				C -> R (in Ref. 6; CAA52326).	cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATATGAAGTGCGACGACATGA	0.592													T	34150100	C	T	34150100	2	4	75	1	0	0	0	0	0	0	0	1	13770	776	27	1		1	RYR3	15	34150100	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	19902	34150100	68381292	965	53176											
GJD2	57369	broad.mit.edu	37	chr15	35045250	35045250	+	Frame_Shift_Del	DEL	C	C	-													tgcccccaccactgcccccaCccccagttcctccaggacct							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:35045249_35045249AC>A	uc001zis.1	-	1	396	c.396_396GT>T	c.(394-396)ggtfs	p.G132fs	AK092087_uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.	132	Poly-Gly.				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CACTGCCCCCACCCCCAGTTC	0.562													-	35045250	C	-	35045250	7	5	75	1	0	1	0	1	0	0	0	0	6417	507	18	0	574	0	GJD2	15	35045250	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	895150	35045250	67486142	966	53177											
FSIP1	161835	broad.mit.edu	37	chr15	39910003	39910003	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaaggctcacactgatAccatacagtggatcatctaa	8	9	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:39910003A>G	uc001zki.2	-	11	1850	c.1632T>C	c.(1630-1632)GGT>GGC	p.G544G		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	544										ovary(2)|skin(1)	3		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TCACACTGATACCATACAGTG	0.413													G	39910003	A	G	39910003	2	3	75	1	0	0	0	0	0	0	0	1	6074	378	14	3		3	FSIP1	15	39910003	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	4864753	39910003	62621389	967	53178											
C15orf56	644809	broad.mit.edu	37	chr15	40544718	40544718	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgctctgggttcgccgcCgcgtcctacctgaggccaca	12	18	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:40544718C>A	uc001zla.1	-	2	275	c.254G>T	c.(253-255)CGG>CTG	p.R85L	PAK6_uc010bbl.2_Intron|PAK6_uc010bbm.2_Intron|PAK6_uc001zky.3_Intron|PAK6_uc010bbn.2_Intron|PAK6_uc001zlb.2_5'Flank	NM_001039905	NP_001034994	Q8N910	CO056_HUMAN	hypothetical protein LOC644809	85											0		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)		GGTTCGCCGCCGCGTCCTACC	0.672													A	40544718	C	A	40544718	3	1	75	1	0	0	0	0	1	0	0	0	1804	652	23	5	235	5	C15orf56	15	40544718	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	634715	40544718	61986674	968	53179											
DISP2	85455	broad.mit.edu	37	chr15	40659529	40659529	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaagtgctcccagagtAgtgccatctaccaactcctg	7	16	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:40659529A>G	uc001zlk.1	+	8	1305	c.1216A>G	c.(1216-1218)AGT>GGT	p.S406G		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	406					smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CTCCCAGAGTAGTGCCATCTA	0.577													G	40659529	A	G	40659529	3	3	75	1	0	0	0	0	1	0	0	0	4540	420	15	3	1246	3	DISP2	15	40659529	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	114811	40659529	61871863	969	53180											
DISP2	85455	broad.mit.edu	37	chr15	40659761	40659761	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagcaggagctgctgaggcActtcctggtccaggacacgg	14	12	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:40659761A>G	uc001zlk.1	+	8	1537	c.1448A>G	c.(1447-1449)CAC>CGC	p.H483R		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	483	SSD.				smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CTGCTGAGGCACTTCCTGGTC	0.617													G	40659761	A	G	40659761	3	3	75	1	0	0	0	0	1	0	0	0	4540	159	6	3	1478	3	DISP2	15	40659761	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	232	40659761	61871631	970	53181											
BAHD1	22893	broad.mit.edu	37	chr15	40756744	40756744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgcagtcccagcatgcacGaggtgagctgcctggcagat	14	13	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:40756744G>A	uc001zlu.2	+	5	2121	c.2050G>A	c.(2050-2052)GAG>AAG	p.E684K	BAHD1_uc001zlt.2_Missense_Mutation_p.E683K|BAHD1_uc010bbp.1_Missense_Mutation_p.E683K|BAHD1_uc001zlv.2_Missense_Mutation_p.E684K	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	684	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CAGCATGCACGAGGTGAGCTG	0.582													A	40756744	G	A	40756744	3	1	75	1	0	0	0	0	1	0	0	0	1297	1059	37	1	2064	1	BAHD1	15	40756744	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	96983	40756744	61774648	971	53182											
RPAP1	26015	broad.mit.edu	37	chr15	41812706	41812706	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaccagggccccaaagagGtggtccccaaaagagacagc	13	12	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:41812706G>T	uc001zod.2	-	22	3802	c.3678C>A	c.(3676-3678)CAC>CAA	p.H1226Q	RPAP1_uc001zoc.2_Missense_Mutation_p.H245Q	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1226	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCCCAAAGAGGTGGTCCCCAA	0.592													T	41812706	G	T	41812706	3	4	75	1	0	0	0	0	1	0	0	0	13541	1252	44	5	519	5	RPAP1	15	41812706	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1055962	41812706	60718686	972	53183											
PLA2G4F	255189	broad.mit.edu	37	chr15	42439390	42439390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacacgctgtggccactgcGctcccggacccccagttcct	11	18	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:42439390G>A	uc001zoz.2	-	13	1414	c.1351C>T	c.(1351-1353)CGC>TGC	p.R451C	PLA2G4F_uc010bcq.2_5'Flank|PLA2G4F_uc001zoy.2_Missense_Mutation_p.R83C|PLA2G4F_uc010bcr.2_Missense_Mutation_p.R202C|PLA2G4F_uc001zpa.2_Missense_Mutation_p.R202C|PLA2G4F_uc010bcs.2_Missense_Mutation_p.R238C	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	451	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			ovary(4)	4		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TGGCCACTGCGCTCCCGGACC	0.587													A	42439390	G	A	42439390	3	1	75	1	0	0	0	0	1	0	0	0	12006	1087	38	1	1230	1	PLA2G4F	15	42439390	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	626684	42439390	60092002	973	53184											
TGM7	116179	broad.mit.edu	37	chr15	43577065	43577065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcatttcggtcatagtaCgtatcgatggtcaagttcct	10	9	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:43577065C>T	uc001zrf.1	-	7	956	c.951G>A	c.(949-951)ACG>ACA	p.T317T		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	317					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GGTCATAGTACGTATCGATGG	0.458													T	43577065	C	T	43577065	2	4	75	1	0	0	0	0	0	0	0	1	15832	523	19	1		1	TGM7	15	43577065	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1137675	43577065	58954327	974	53185											
DUOX2	50506	broad.mit.edu	37	chr15	45392018	45392018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggagacgctggccgccGtgcctcgtgacaggatgatg	16	10	0	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:45392018G>A	uc010bea.2	-	25	3460	c.3257C>T	c.(3256-3258)ACG>ATG	p.T1086M	DUOX2_uc001zun.2_Missense_Mutation_p.T1086M	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1086	Interaction with TXNDC11 (By similarity).|Helical; (Potential).|Ferric oxidoreductase.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCTGGCCGCCGTGCCTCGTGA	0.567													A	45392018	G	A	45392018	3	1	75	1	0	0	0	0	1	0	0	0	4801	1145	40	1	1429	1	DUOX2	15	45392018	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1814953	45392018	57139374	975	53186											
FBN1	2200	broad.mit.edu	37	chr15	48812973	48812973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagctggttagagcagcGcccgtttgtcagagctgtgt	15	9	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:48812973G>A	uc001zwx.1	-	10	1358	c.1030C>T	c.(1030-1032)CGC>TGC	p.R344C		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	344	TB 2.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTAGAGCAGCGCCCGTTTGTC	0.517													A	48812973	G	A	48812973	3	1	75	1	0	0	0	0	1	0	0	0	5702	1087	38	1	7813	1	FBN1	15	48812973	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	3420955	48812973	53718419	976	53187											
DMXL2	23312	broad.mit.edu	37	chr15	51837811	51837811	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctgtattctgtctttgtgtCttccagcatgagaaaggctg	11	8	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:51837811C>T	uc002abf.2	-	8	1124	c.899G>A	c.(898-900)AGA>AAA	p.R300K	DMXL2_uc010ufy.1_Missense_Mutation_p.R300K|DMXL2_uc010bfa.2_Missense_Mutation_p.R300K	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	300						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		GTCTTTGTGTCTTCCAGCATG	0.393													T	51837811	C	T	51837811	3	4	75	1	0	0	0	0	1	0	0	0	4595	913	32	4	8358	4	DMXL2	15	51837811	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3024838	51837811	50693581	977	53188											
MYO5A	4644	broad.mit.edu	37	chr15	52620058	52620058	+	Frame_Shift_Del	DEL	T	T	-													caggaactgaccttcaatacTtttttgatgctgttaattgt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:52620057_52620057CT>C	uc002aby.2	-	34	4871	c.4627_4627AG>G	c.(4627-4629)gtafs	p.V1543fs	MYO5A_uc002abx.3_Frame_Shift_Del_p.V1516fs|MYO5A_uc010ugd.1_Frame_Shift_Del_p.V265fs	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	1543	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACCTTCAATACTTTTTTGATG	0.368													-	52620058	T	-	52620058	7	5	75	1	0	1	0	1	0	0	0	0	10078	1606	56	0	969	0	MYO5A	15	52620058	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	782247	52620058	49911334	978	53189											
WDR72	256764	broad.mit.edu	37	chr15	54025236	54025236	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagacagagctgaccctcTtgacttccagtcacaatcgt	8	13	2	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:54025236T>G	uc002acj.2	-	2	153	c.111A>C	c.(109-111)CAA>CAC	p.Q37H	WDR72_uc010bfi.1_Missense_Mutation_p.Q37H	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	37	WD 1.									lung(1)|skin(1)	2				all cancers(107;0.0511)		GCTGACCCTCTTGACTTCCAG	0.502													G	54025236	T	G	54025236	3	3	75	1	0	0	0	0	1	0	0	0	17319	1606	56	5	3273	5	WDR72	15	54025236	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1405178	54025236	48506156	979	53190											
UNC13C	440279	broad.mit.edu	37	chr15	54306737	54306737	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattttttcactgctaaacTtagtcgttctgaatcagatt	6	7	3	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:54306737T>G	uc002ack.2	+	1	1637	c.1637T>G	c.(1636-1638)CTT>CGT	p.L546R		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	546					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACTGCTAAACTTAGTCGTTCT	0.388													G	54306737	T	G	54306737	3	3	75	1	0	0	0	0	1	0	0	0	16983	1609	56	5	1639	5	UNC13C	15	54306737	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	281501	54306737	48224655	980	53191											
CLPX	10845	broad.mit.edu	37	chr15	65454965	65454965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatctgtactcatcctccCgtcttcttatttctaactct	2	13	6	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:65454965C>T	uc002aom.2	-	6	764	c.692G>A	c.(691-693)CGG>CAG	p.R231Q	CLPX_uc010uiu.1_RNA|CLPX_uc010bhg.1_Missense_Mutation_p.R231Q	NM_006660	NP_006651	O76031	CLPX_HUMAN	ClpX caseinolytic protease X homolog precursor	231					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding				0						CTCATCCTCCCGTCTTCTTAT	0.373													T	65454965	C	T	65454965	3	4	75	1	0	0	0	0	1	0	0	0	3556	652	23	1	1245	1	CLPX	15	65454965	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	11148228	65454965	37076427	981	53192											
ITGA11	22801	broad.mit.edu	37	chr15	68617582	68617582	+	Splice_Site	DEL	G	G	-													cacgtagtcagcagtgtcctGgggggtggagatgagggcag							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:68617581_68617581TG>T	uc010bib.3	-	18	2299	c.2212_splice	c.e18-1	p.D738_splice	ITGA11_uc002ari.3_Splice_Site_p.D738_splice	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	738					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	AGCAGTGTCCTGGGGGGTGGA	0.582													-	68617582	G	-	68617582	8	5	75	1	0	1	0	1	0	0	1	0	7874	1363	47	0		0	ITGA11	15	68617582	Splice_Site	DEL	G	TCGA-BR-8363-01A-11D-2340-08	3162617	68617582	33913810	982	53193											
SH2D7	646892	broad.mit.edu	37	chr15	78390803	78390803	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacccagaaaacccacctgcCacggcattcctcacagtggt	8	16	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:78390803C>A	uc010blb.1	+	4	510	c.510C>A	c.(508-510)GCC>GCA	p.A170A		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	170											0						ACCCACCTGCCACGGCATTCC	0.607													A	78390803	C	A	78390803	2	1	75	1	0	0	0	0	0	0	0	1	14239	581	21	5		5	SH2D7	15	78390803	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	9773221	78390803	24140589	983	53194											
MORF4L1	10933	broad.mit.edu	37	chr15	79178522	79178522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagcagagtactcaaataCgtggacaccaatttgcagaa	10	8	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:79178522C>T	uc002bel.2	+	5	500	c.312C>T	c.(310-312)TAC>TAT	p.Y104Y	MORF4L1_uc010bli.1_Silent_p.Y65Y|MORF4L1_uc010blj.1_Silent_p.Y65Y|MORF4L1_uc002bem.2_Silent_p.Y65Y|MORF4L1_uc010une.1_Translation_Start_Site	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN	MORF-related gene 15 isoform 2	104					double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding				0						TACTCAAATACGTGGACACCA	0.358													T	79178522	C	T	79178522	2	4	75	1	0	0	0	0	0	0	0	1	9706	547	19	1		1	MORF4L1	15	79178522	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	787719	79178522	23352870	984	53195											
KIAA1024	23251	broad.mit.edu	37	chr15	79750312	79750312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggattggcgaaattgaacGgaagctggaatccctgtcgg	14	8	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:79750312G>A	uc002bew.1	+	2	1898	c.1823G>A	c.(1822-1824)CGG>CAG	p.R608Q	KIAA1024_uc010unk.1_Missense_Mutation_p.R608Q	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	608						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						GAAATTGAACGGAAGCTGGAA	0.507													A	79750312	G	A	79750312	3	1	75	1	0	0	0	0	1	0	0	0	8205	1116	39	1	1825	1	KIAA1024	15	79750312	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	571790	79750312	22781080	985	53196											
IL16	3603	broad.mit.edu	37	chr15	81575034	81575034	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttccctacttccaatgcaTctctggcattttcgtccaca	5	15	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:81575034T>C	uc002bgh.3	+	9	1512	c.1136T>C	c.(1135-1137)ATC>ACC	p.I379T	IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.I379T|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.I421T|IL16_uc002bgg.2_Missense_Mutation_p.I379T|IL16_uc002bgi.1_5'UTR	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	379	PDZ 2.|Interaction with GRIN2A.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						TTCCAATGCATCTCTGGCATT	0.612													C	81575034	T	C	81575034	3	2	75	1	0	0	0	0	1	0	0	0	7633	1435	50	3	1166	3	IL16	15	81575034	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1824722	81575034	20956358	986	53197											
AGBL1	123624	broad.mit.edu	37	chr15	87531239	87531239	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaaaatcatccaatttcctGccaaagcatatttggtttgc	5	9	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:87531239G>T	uc002blz.1	+	23	3185	c.3105G>T	c.(3103-3105)CTG>CTT	p.L1035L		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1035					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						ccaatttcctgccaaagcata	0													T	87531239	G	T	87531239	2	4	75	1	0	0	0	0	0	0	0	1	375	1306	46	5		5	AGBL1	15	87531239	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	5956205	87531239	15000153	987	53198											
MRPS11	64963	broad.mit.edu	37	chr15	89020277	89020277	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtgaaaggcctggggccaGgacgcttggtaagttacagt	16	7	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:89020277G>T	uc002bml.2	+	5	734	c.469G>T	c.(469-471)GGA>TGA	p.G157*	MRPS11_uc002bmm.2_Nonsense_Mutation_p.G124*|MRPS11_uc002bmn.2_Nonsense_Mutation_p.G156*|MRPS11_uc010bnj.2_RNA	NM_022839	NP_073750	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11 isoform a	157					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome				0	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CCTGGGGCCAGGACGCTTGGT	0.502											OREG0023439	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	89020277	G	T	89020277	4	4	75	1	0	0	0	0	0	1	0	0	9822	1001	35	5	487	5	MRPS11	15	89020277	Nonsense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1489038	89020277	13511115	988	53199											
PLIN1	5346	broad.mit.edu	37	chr15	90213365	90213365	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaggcaagctcgcacccGgccaaagcggcccccaggac	11	20	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:90213365G>A	uc010upx.1	-	5	554	c.444C>T	c.(442-444)GCC>GCT	p.A148A	PLIN1_uc002boh.2_Silent_p.A148A	NM_001145311	NP_001138783	O60240	PLIN1_HUMAN	perilipin 1	148					triglyceride catabolic process	lipid particle	lipid binding			central_nervous_system(1)|skin(1)	2						GCTCGCACCCGGCCAAAGCGG	0.642													A	90213365	G	A	90213365	2	1	75	1	0	0	0	0	0	0	0	1	12089	1103	39	1		1	PLIN1	15	90213365	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1193088	90213365	12318027	989	53200											
BLM	641	broad.mit.edu	37	chr15	91292793	91292794	+	Frame_Shift_Del	DEL	AC	AC	-													atgctccagcaggacaggaaAcacagagaggtggatcaaaa							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:91292792_91292793AAC>A	uc002bpr.3	+	2	391_392	c.294_295AAC>A	c.(292-297)gaaacafs	p.E98fs	BLM_uc010uqh.2_Frame_Shift_Del_p.E98fs|BLM_uc010uqi.2_5'UTR|BLM_uc010bnx.3_Frame_Shift_Del_p.E98fs	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	98					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CAGGACAGGAAACACAGAGAGG	0.426			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				-	91292794	AC	-	91292793	7	5	75	1	0	1	0	1	0	0	0	0	1445	43	2	0	301	0	BLM	15	91292793	Frame_Shift_Del	DEL	AC	TCGA-BR-8363-01A-11D-2340-08	1079428	91292793	11238599	990	53201											
IGF1R	3480	broad.mit.edu	37	chr15	99434645	99434645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgcagcgcgcctgacaaCgacacggcctgtgtagcttg	13	13	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:99434645C>T	uc002bul.2	+	3	782	c.732C>T	c.(730-732)AAC>AAT	p.N244N	IGF1R_uc010urq.1_Silent_p.N244N|IGF1R_uc010bon.2_Silent_p.N244N	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	244					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CGCCTGACAACGACACGGCCT	0.642													T	99434645	C	T	99434645	2	4	75	1	0	0	0	0	0	0	0	1	7571	535	19	1		1	IGF1R	15	99434645	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	8141852	99434645	3096747	991	53202											
SYNM	23336	broad.mit.edu	37	chr15	99670901	99670901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgaagatgtgtcgccagGcccctgggggttggttaagg	18	8	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:99670901G>A	uc002bup.2	+	6	2456	c.2336G>A	c.(2335-2337)GGC>GAC	p.G779D	SYNM_uc002buo.2_Missense_Mutation_p.G779D|SYNM_uc002buq.2_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	779	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			ovary(3)|central_nervous_system(1)	4						GTGTCGCCAGGCCCCTGGGGG	0.552													A	99670901	G	A	99670901	3	1	75	1	0	0	0	0	1	0	0	0	15452	1203	42	2	2349	2	SYNM	15	99670901	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	236256	99670901	2860491	992	53203											
ITFG3	83986	broad.mit.edu	37	chr16	304499	304500	+	Frame_Shift_Ins	INS	-	-	A													aaaatctgggaaatccatcaINSaaaaatgaggataacgtgaa							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:304498_304499C>CA	uc002cgf.3	+	2	281_282	c.86_87C>CA	c.(85-87)tcafs	p.S29fs	LUC7L_uc021szo.1_Intron|ITFG3_uc010bqr.2_Intron|ITFG3_uc002cgg.2_Frame_Shift_Ins_p.S29fs|ITFG3_uc010uud.1_Non-coding_Transcript|ITFG3_uc002cgh.3_Frame_Shift_Ins_p.S29fs	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.	29						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GGAAATCCATCAAAAAATGAGG	0.495											OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	304500	-	A	304499	7	5	75	1	0	1	1	0	0	0	0	0	7871	117	5	0	89	0	ITFG3	16	304499	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08		304499	90050254	993	53204											
DECR2	26063	broad.mit.edu	37	chr16	461435	461435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggaacaagaccgagatcGcccacagcgtgctctacctg	12	13	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:461435G>A	uc002chb.2	+	8	842	c.736G>A	c.(736-738)GCC>ACC	p.A246T	DECR2_uc002chc.2_Missense_Mutation_p.A162T|DECR2_uc010bqv.2_Missense_Mutation_p.A162T|DECR2_uc002chd.2_Missense_Mutation_p.A162T|DECR2_uc002che.1_RNA	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2	246						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding				0		Hepatocellular(16;0.00015)				GACCGAGATCGCCCACAGCGT	0.672													A	461435	G	A	461435	3	1	75	1	0	0	0	0	1	0	0	0	4383	1087	38	1	766	1	DECR2	16	461435	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	156936	461435	89893318	994	53205											
CHTF18	63922	broad.mit.edu	37	chr16	839642	839642	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccatcttggaggactacgTccacgtgacatccacggagg	11	14	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:839642T>C	uc002cke.3	+	4	596	c.533T>C	c.(532-534)GTC>GCC	p.V178A	RPUSD1_uc002cka.2_5'Flank|RPUSD1_uc002ckb.2_5'Flank|RPUSD1_uc002ckc.2_5'Flank|RPUSD1_uc002ckd.2_5'Flank|CHTF18_uc010uus.1_Missense_Mutation_p.V178A|CHTF18_uc010bre.1_RNA|CHTF18_uc002ckf.3_Missense_Mutation_p.V206A|CHTF18_uc010brf.2_5'UTR|CHTF18_uc002ckg.3_5'UTR	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	178					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)				GAGGACTACGTCCACGTGACA	0.677													C	839642	T	C	839642	3	2	75	1	0	0	0	0	1	0	0	0	3414	1667	58	3	547	3	CHTF18	16	839642	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	378207	839642	89515111	995	53206											
BAIAP3	8938	broad.mit.edu	37	chr16	1391358	1391358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgccacgcgggagccccGtgcacagaaggagcagcgct	16	14	0	1	rs115052205	by1000genomes	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:1391358G>A	uc002clk.1	+	8	704	c.704G>A	c.(703-705)CGT>CAT	p.R235H	BAIAP3_uc002clj.2_Missense_Mutation_p.R217H|BAIAP3_uc010uuz.1_Missense_Mutation_p.R200H|BAIAP3_uc010uva.1_Missense_Mutation_p.R172H|BAIAP3_uc010uvb.1_Missense_Mutation_p.R252H|BAIAP3_uc010uvc.1_Missense_Mutation_p.R200H	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	235	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				CGGGAGCCCCGTGCACAGAAG	0.692													A	1391358	G	A	1391358	3	1	75	1	0	0	0	0	1	0	0	0	1304	1145	40	1	734	1	BAIAP3	16	1391358	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	551716	1391358	88963395	996	53207											
MLST8	64223	broad.mit.edu	37	chr16	2256519	2256519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccagcacatccgcatgtAtgatctcaactccaataacc	4	14	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:2256519A>G	uc002coz.2	+	4	322	c.203A>G	c.(202-204)TAT>TGT	p.Y68C	MLST8_uc002coy.2_Missense_Mutation_p.Y68C|MLST8_uc002cpa.2_5'UTR|MLST8_uc002cpb.2_Missense_Mutation_p.Y67C|MLST8_uc010uvx.1_Missense_Mutation_p.Y2C|MLST8_uc002cpc.2_Missense_Mutation_p.Y68C|MLST8_uc002cpd.2_Missense_Mutation_p.Y2C|MLST8_uc002cpe.2_Missense_Mutation_p.Y68C|MLST8_uc010uvy.1_Missense_Mutation_p.Y68C|MLST8_uc002cpg.2_Missense_Mutation_p.Y87C|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Missense_Mutation_p.Y68C	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	G protein beta subunit-like	68	WD 2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding				0						ATCCGCATGTATGATCTCAAC	0.537													G	2256519	A	G	2256519	3	3	75	1	0	0	0	0	1	0	0	0	9634	449	16	3	213	3	MLST8	16	2256519	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	865161	2256519	88098234	997	53208											
ABCA3	21	broad.mit.edu	37	chr16	2334407	2334407	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaccaggaacacgtgatcCagggttttggaaagttcttc	11	9	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:2334407C>A	uc002cpy.1	-	25	4447	c.3735G>T	c.(3733-3735)CTG>CTT	p.L1245L	ABCA3_uc010bsk.1_Silent_p.L1187L	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	1245	Helical; (Potential).				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				ACACGTGATCCAGGGTTTTGG	0.582													A	2334407	C	A	2334407	2	1	75	1	0	0	0	0	0	0	0	1	33	581	21	5		5	ABCA3	16	2334407	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	77888	2334407	88020346	998	53209											
TRAP1	10131	broad.mit.edu	37	chr16	3724368	3724368	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcacgtagaagatgctgcggAtgttgagcggtgcgtccgtc	16	9	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:3724368A>T	uc002cvt.3	-	9	1105	c.1016T>A	c.(1015-1017)ATC>AAC	p.I339N	TRAP1_uc002cvs.2_Missense_Mutation_p.I130N|TRAP1_uc010uxf.1_Missense_Mutation_p.I286N	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	339					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)				GATGCTGCGGATGTTGAGCGG	0.607													T	3724368	A	T	3724368	3	4	75	1	0	0	0	0	1	0	0	0	16452	333	12	5	1138	5	TRAP1	16	3724368	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1389961	3724368	86630385	999	53210											
CREBBP	1387	broad.mit.edu	37	chr16	3789647	3789647	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaaaagcagacatccacGccgtcaatttcctcaaaagc	5	14	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:3789647G>A	uc002cvv.2	-	25	4416	c.4212C>T	c.(4210-4212)GGC>GGT	p.G1404G	CREBBP_uc002cvw.2_Silent_p.G1366G	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1404	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGACATCCACGCCGTCAATTT	0.488			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				A	3789647	G	A	3789647	2	1	75	1	0	0	0	0	0	0	0	1	3861	1074	38	1		1	CREBBP	16	3789647	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	65279	3789647	86565106	1000	53211											
CORO7	79585	broad.mit.edu	37	chr16	4408008	4408008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggctgagaagccaggGctgcccattagcgccttgca	13	13	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:4408008G>A	uc002cwh.3	-	25	2674	c.2554C>T	c.(2554-2556)CCC>TCC	p.P852S	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.P852S|CORO7_uc002cwg.3_Missense_Mutation_p.P632S|CORO7_uc010uxh.1_Missense_Mutation_p.P834S|CORO7_uc010uxi.1_Missense_Mutation_p.P767S|CORO7_uc002cwi.1_3'UTR	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	852						cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						AGAAGCCAGGGCTGCCCATTA	0.622													A	4408008	G	A	4408008	3	1	75	1	0	0	0	0	1	0	0	0	3759	1203	42	2	239	2	CORO7	16	4408008	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	618361	4408008	85946745	1001	53212											
PPL	5493	broad.mit.edu	37	chr16	4935287	4935287	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctccctctcggtggccgcGtccttctccaccttgagcac	8	19	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:4935287G>A	uc002cyd.1	-	22	3459	c.3369C>T	c.(3367-3369)GAC>GAT	p.D1123D		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1123	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						CGGTGGCCGCGTCCTTCTCCA	0.622													A	4935287	G	A	4935287	2	1	75	1	0	0	0	0	0	0	0	1	12334	1136	40	1		1	PPL	16	4935287	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	527279	4935287	85419466	1002	53213											
KIAA0430	9665	broad.mit.edu	37	chr16	15711343	15711343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttgttcacggattgcgaCcgtgtctgttaatttatata	8	8	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:15711343C>T	uc002ddr.2	-	14	2963	c.2770G>A	c.(2770-2772)GTC>ATC	p.V924I	KIAA0430_uc002ddq.2_Missense_Mutation_p.V758I|KIAA0430_uc010uzv.1_Missense_Mutation_p.V920I|KIAA0430_uc010uzw.1_Missense_Mutation_p.V923I	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	923						peroxisome	nucleotide binding|RNA binding				0						CGGATTGCGACCGTGTCTGTT	0.493													T	15711343	C	T	15711343	3	4	75	1	0	0	0	0	1	0	0	0	8177	507	18	4	2514	4	KIAA0430	16	15711343	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	10776056	15711343	74643410	1003	53214											
SMG1	23049	broad.mit.edu	37	chr16	18853743	18853743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcaagatgtaacttgcacGtttctgtgctctctgttgca	9	10	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:18853743G>A	uc002dfm.2	-	40	6616	c.6253C>T	c.(6253-6255)CGT>TGT	p.R2085C	SMG1_uc010bwb.2_Missense_Mutation_p.R1945C|SMG1_uc010bwa.2_Missense_Mutation_p.R816C|SMG1_uc002dfo.3_Missense_Mutation_p.R383C	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2085					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						TAACTTGCACGTTTCTGTGCT	0.393													A	18853743	G	A	18853743	3	1	75	1	0	0	0	0	1	0	0	0	14795	1145	40	1	4828	1	SMG1	16	18853743	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	3142400	18853743	71501010	1004	53215											
LOC81691	81691	broad.mit.edu	37	chr16	20838394	20838394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaagcttttcgggaatcaCgaagaagattcttaacccag	9	8	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:20838394C>T	uc002dhv.2	+	9	1099	c.836C>T	c.(835-837)ACG>ATG	p.T279M	ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.T279M|LOC81691_uc002dhw.2_Missense_Mutation_p.T22M|LOC81691_uc002dhy.3_Missense_Mutation_p.T279M	NM_030941	NP_112203	Q96IC2	REXON_HUMAN	exonuclease NEF-sp isoform 1	279	Exonuclease.					nucleolus	exonuclease activity|nucleotide binding|RNA binding			ovary(1)|kidney(1)	2						TCGGGAATCACGAAGAAGATT	0.373													T	20838394	C	T	20838394	3	4	75	1	0	0	0	0	1	0	0	0	8890	536	19	1	866	1	LOC81691	16	20838394	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1984651	20838394	69516359	1005	53216											
DNAH3	55567	broad.mit.edu	37	chr16	20981161	20981161	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttcatccctttcatgAtgcagatgctctccatgacc	7	14	3	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:20981161A>T	uc010vbe.1	-	52	8411	c.8411T>A	c.(8410-8412)ATC>AAC	p.I2804N	DNAH3_uc010vbd.1_Missense_Mutation_p.I239N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2804	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CCCTTTCATGATGCAGATGCT	0.597													T	20981161	A	T	20981161	3	4	75	1	0	0	0	0	1	0	0	0	4603	333	12	5	3982	5	DNAH3	16	20981161	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	142767	20981161	69373592	1006	53217											
DNAH3	55567	broad.mit.edu	37	chr16	21008636	21008636	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttccttcctcccccggggggCcccatggctgtcacgagcag	12	17	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:21008636C>G	uc010vbe.1	-	44	6570	c.6570G>C	c.(6568-6570)GGG>GGC	p.G2190G		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2190	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CCCCGGGGGGCCCCATGGCTG	0.542													G	21008636	C	G	21008636	2	3	75	1	0	0	0	0	0	0	0	1	4603	726	26	5		5	DNAH3	16	21008636	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	27475	21008636	69346117	1007	53218											
ZP2	7783	broad.mit.edu	37	chr16	21221008	21221008	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgagcttttctgggtccaGgatgtaagtgcagttcggca	15	7	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:21221008G>T	uc002dii.2	-	4	274	c.274C>A	c.(274-276)CTG>ATG	p.L92M	ZP2_uc010bwn.1_Missense_Mutation_p.L131M|ZP2_uc010bwo.2_Missense_Mutation_p.L131M	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	92	Extracellular (Potential).				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(48;0.0573)		TCTGGGTCCAGGATGTAAGTG	0.498													T	21221008	G	T	21221008	3	4	75	1	0	0	0	0	1	0	0	0	18213	991	35	5	2027	5	ZP2	16	21221008	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	212372	21221008	69133745	1008	53219											
PRKCB	5579	broad.mit.edu	37	chr16	23847653	23847653	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcccaccttctgcagccacTgcaccgacttcatctggtga	8	16	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:23847653T>G	uc002dmd.2	+	1	354	c.157T>G	c.(157-159)TGC>GGC	p.C53G	PRKCB_uc002dme.2_Missense_Mutation_p.C53G	NM_212535	NP_997700	P05771	KPCB_HUMAN	protein kinase C, beta isoform 1	53	Phorbol-ester/DAG-type 1.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)	CTGCAGCCACTGCACCGACTT	0.612													G	23847653	T	G	23847653	3	3	75	1	0	0	0	0	1	0	0	0	12508	1580	55	5	159	5	PRKCB	16	23847653	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	2626645	23847653	66507100	1009	53220											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25255311	25255311	+	Frame_Shift_Del	DEL	G	G	-													gggacttcctctggggtgctGggggaaggagcagatgcccg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:25255310_25255310TG>T	uc002dod.4	-	5	2184	c.1777_1777CA>A	c.(1777-1779)agcfs	p.S593fs	ZKSCAN2_uc010vcl.2_Frame_Shift_Del_p.S389fs	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	593					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCTGGGGTGCTGGGGGAAGGA	0.547													-	25255311	G	-	25255311	7	5	75	1	0	1	0	1	0	0	0	0	17684	1335	47	0	1135	0	ZKSCAN2	16	25255311	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	1407658	25255311	65099442	1010	53221											
GTF3C1	2975	broad.mit.edu	37	chr16	27549671	27549671	+	Frame_Shift_Del	DEL	C	C	-													gcaacgatgatcagtttcttCccccacctgcaaatcggaaa							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:27549670_27549670TC>T	uc002dov.2	-	2	479	c.439_439GA>A	c.(439-441)aagfs	p.K147fs	GTF3C1_uc002dou.3_Frame_Shift_Del_p.K147fs	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	147						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ATCAGTTTCTTCCCCCACCTG	0.478													-	27549671	C	-	27549671	7	5	75	1	0	1	0	1	0	0	0	0	6872	842	30	0	6031	0	GTF3C1	16	27549671	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	2294360	27549671	62805082	1011	53222											
SEZ6L2	26470	broad.mit.edu	37	chr16	29891249	29891249	+	Frame_Shift_Del	DEL	G	G	-													tccacacattcgatggcattGgggggcccagggggctccag							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:29891248_29891248TG>T	uc010vec.2	-	8	1755	c.1510_1510CA>A	c.(1510-1512)aatfs	p.N504fs	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Frame_Shift_Del_p.N434fs|SEZ6L2_uc002dur.4_Frame_Shift_Del_p.N434fs|SEZ6L2_uc002duq.4_Frame_Shift_Del_p.N504fs|SEZ6L2_uc010ved.2_Frame_Shift_Del_p.N460fs|SEZ6L2_uc002dus.4_Frame_Shift_Del_p.N390fs	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	504	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGATGGCATTGGGGGGCCCA	0.602													-	29891249	G	-	29891249	7	5	75	1	0	1	0	1	0	0	0	0	14144	1335	47	0	1302	0	SEZ6L2	16	29891249	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	2341578	29891249	60463504	1012	53223											
ZNF48	197407	broad.mit.edu	37	chr16	30410067	30410067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccgagtcaagcacctccGcacccaccgtggtgaacggg	12	16	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:30410067G>A	uc002dya.1	+	2	1555	c.1496G>A	c.(1495-1497)CGC>CAC	p.R499H	ZNF48_uc002dxz.1_Missense_Mutation_p.R376H	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	499	C2H2-type 10.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAGCACCTCCGCACCCACCGT	0.627													A	30410067	G	A	30410067	3	1	75	1	0	0	0	0	1	0	0	0	17931	1087	38	1	1502	1	ZNF48	16	30410067	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	518818	30410067	59944686	1013	53224											
SRCAP	10847	broad.mit.edu	37	chr16	30745939	30745939	+	Splice_Site	DEL	A	A	-													actcatattctggagcaggtAaaaaaagagtgggcagttcg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:30745938_30745938TA>T	uc002dze.1	+	31	7114	c.6729_splice	c.e31+2	p.Q2243_splice	SRCAP_uc002dzf.3_Splice_Site|SRCAP_uc002dzg.1_Splice_Site_p.Q2038_splice	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2243	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTGGAGCAGGTAAAAAAAGAG	0.473													-	30745939	A	-	30745939	8	5	75	1	0	1	0	1	0	0	1	0	15134	377	13	0		0	SRCAP	16	30745939	Splice_Site	DEL	A	TCGA-BR-8363-01A-11D-2340-08	335872	30745939	59608814	1014	53225											
ZNF629	23361	broad.mit.edu	37	chr16	30795220	30795220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggcttctccgcccccgcCgggcggccctgcaccagctc	12	20	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:30795220C>T	uc002dzs.1	-	3	637	c.429G>A	c.(427-429)CCG>CCA	p.P143P		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			CCGCCCCCGCCGGGCGGCCCT	0.706													T	30795220	C	T	30795220	2	4	75	1	0	0	0	0	0	0	0	1	18050	639	23	1		1	ZNF629	16	30795220	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	49281	30795220	59559533	1015	53226											
ZNF646	9726	broad.mit.edu	37	chr16	31088406	31088406	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacaagcacgccgggagccTcaccaaccaccgccagagcc	9	19	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:31088406T>G	uc002eap.2	+	2	1050	c.761T>G	c.(760-762)CTC>CGC	p.L254R	ZNF668_uc002eao.2_5'Flank	NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	254	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						GCCGGGAGCCTCACCAACCAC	0.597													G	31088406	T	G	31088406	3	3	75	1	0	0	0	0	1	0	0	0	18059	1551	54	5	763	5	ZNF646	16	31088406	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	293186	31088406	59266347	1016	53227											
ITGAD	3681	broad.mit.edu	37	chr16	31427908	31427908	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtgaggattcctacggaAccgtggtcagcctctactat	11	11	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:31427908A>G	uc002ebv.1	+	20	2489	c.2440A>G	c.(2440-2442)ACC>GCC	p.T814A	ITGAD_uc010cap.1_Missense_Mutation_p.T815A	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	814	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						TTCCTACGGAACCGTGGTCAG	0.617													G	31427908	A	G	31427908	3	3	75	1	0	0	0	0	1	0	0	0	7884	43	2	3	2518	3	ITGAD	16	31427908	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	339502	31427908	58926845	1017	53228											
IRX5	10265	broad.mit.edu	37	chr16	54966770	54966770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagaacgacgaggacgagCcccagaagcccgaggacaag	14	11	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:54966770C>T	uc002ehv.2	+	2	610	c.610C>T	c.(610-612)CCC>TCC	p.P204S	IRX5_uc010cca.1_Missense_Mutation_p.P256S|IRX5_uc002ehw.2_Missense_Mutation_p.P138S	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	204					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						CGAGGACGAGCCCCAGAAGCC	0.592													T	54966770	C	T	54966770	3	4	75	1	0	0	0	0	1	0	0	0	7847	739	26	2	616	2	IRX5	16	54966770	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	23538862	54966770	35387983	1018	53229											
GNAO1	2775	broad.mit.edu	37	chr16	56362621	56362621	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagagctgctttctgccAtgatgcggctctggggcgac	14	12	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:56362621A>G	uc002eit.3	+	4	1279	c.382A>G	c.(382-384)ATG>GTG	p.M128V	GNAO1_uc002eiu.3_Missense_Mutation_p.M128V	NM_138736	NP_620073	P09471	GNAO_HUMAN	guanine nucleotide binding protein, alpha	128					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			lung(1)|breast(1)	2		all_neural(199;0.159)				GCTTTCTGCCATGATGCGGCT	0.582													G	56362621	A	G	56362621	3	3	75	1	0	0	0	0	1	0	0	0	6508	217	8	3	396	3	GNAO1	16	56362621	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1395851	56362621	33992132	1019	53230											
NLRC5	84166	broad.mit.edu	37	chr16	57060196	57060196	+	Frame_Shift_Del	DEL	C	C	-													cagatggtgctcgccctcagCccccctgggcacttgcccac							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:57060195_57060195GC>G	uc021tiu.1	+	4	1467	c.1340_1340GC>G	c.(1339-1341)agcfs	p.S447fs	NLRC5_uc021tit.1_Frame_Shift_Del_p.S447fs|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Frame_Shift_Del_p.S252fs|NLRC5_uc021tiw.1_Frame_Shift_Del_p.S252fs|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	447	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTCGCCCTCAGCCCCCCTGGG	0.607													-	57060196	C	-	57060196	7	5	75	1	0	1	0	1	0	0	0	0	10470	738	26	0	1355	0	NLRC5	16	57060196	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	697575	57060196	33294557	1020	53231											
CNGB1	1258	broad.mit.edu	37	chr16	57953025	57953025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagcgggtcaatgctctgGggaaactggtacttcttcca	12	10	4	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:57953025G>A	uc002emt.2	-	20	2000	c.1935C>T	c.(1933-1935)CCC>CCT	p.P645P	CNGB1_uc010cdh.2_Silent_p.P639P	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	645	Cytoplasmic (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						CAATGCTCTGGGGAAACTGGT	0.567													A	57953025	G	A	57953025	2	1	75	1	0	0	0	0	0	0	0	1	3600	1219	43	4		4	CNGB1	16	57953025	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	892829	57953025	32401728	1021	53232											
MMP15	4324	broad.mit.edu	37	chr16	58071453	58071453	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgttccgcccagatcttggcCtcggcccttgcagagatgca	11	15	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:58071453C>A	uc002ena.2	+	2	1213	c.240C>A	c.(238-240)GCC>GCA	p.A80A		NM_002428	NP_002419	P51511	MMP15_HUMAN	matrix metalloproteinase 15 preproprotein	80					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			central_nervous_system(2)|breast(1)	3						AGATCTTGGCCTCGGCCCTTG	0.597													A	58071453	C	A	58071453	2	1	75	1	0	0	0	0	0	0	0	1	9654	668	24	5		5	MMP15	16	58071453	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	118428	58071453	32283300	1022	53233											
TK2	7084	broad.mit.edu	37	chr16	66547656	66547656	+	Frame_Shift_Del	DEL	A	A	-													gaacaggggctgccatggggAaaaggctgcctttgatgagc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:66547655_66547655GA>G	uc002eos.3	-	8	1029	c.678_678TC>C	c.(676-678)ttcfs	p.F226fs	TK2_uc021tjp.1_Non-coding_Transcript|TK2_uc010vip.2_Frame_Shift_Del_p.F129fs|TK2_uc002eor.3_Frame_Shift_Del_p.F195fs|TK2_uc010cdq.3_Frame_Shift_Del_p.S139fs|TK2_uc010viq.2_Frame_Shift_Del_p.F208fs|TK2_uc010vir.2_Frame_Shift_Del_p.F201fs|TK2_uc010cdr.3_Frame_Shift_Del_p.F177fs	NM_004614	NP_004605	O00142	KITM_HUMAN	Homo sapiens thymidine kinase 2, mitochondrial (TK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	226					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		CTGCCATGGGGAAAAGGCTGC	0.537													-	66547656	A	-	66547656	7	5	75	1	0	1	0	1	0	0	0	0	15930	246	9	0	128	0	TK2	16	66547656	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	8476203	66547656	23807097	1023	53234											
CMTM1	113540	broad.mit.edu	37	chr16	66612849	66612849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgaaaggaagctttcccCcgccaaggacgcctaccccg	10	15	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:66612849C>T	uc002epi.3	+	4	578	c.455C>T	c.(454-456)CCC>CTC	p.P152L	CMTM1_uc002epb.3_RNA|CMTM1_uc002epc.3_RNA|CMTM1_uc002epd.3_RNA|CMTM1_uc002epe.3_RNA|CMTM1_uc002epf.3_RNA|CMTM1_uc002epg.3_RNA|CMTM1_uc002eph.3_3'UTR|CMTM1_uc002epl.3_Missense_Mutation_p.P105L|CMTM1_uc002epj.3_3'UTR|CMTM1_uc002epk.3_Missense_Mutation_p.P99L|CMTM1_uc002epa.3_3'UTR|CMTM1_uc002epn.3_3'UTR|CMTM1_uc002epo.3_RNA|CMTM1_uc002epp.3_RNA|CMTM1_uc002epq.3_RNA|CMTM1_uc010cds.2_RNA|CMTM1_uc002epr.3_Missense_Mutation_p.P269L|CMTM1_uc002epm.3_RNA|CMTM1_uc002eps.2_RNA|CMTM2_uc002ept.2_5'Flank|CMTM2_uc010cdu.2_5'Flank	NM_181269	NP_851786	Q8IZ96	CKLF1_HUMAN	chemokine-like factor superfamily 1 isoform 1	152					chemotaxis	extracellular space|integral to membrane	cytokine activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		AAGCTTTCCCCCGCCAAGGAC	0.602													T	66612849	C	T	66612849	3	4	75	1	0	0	0	0	1	0	0	0	3582	623	22	4	820	4	CMTM1	16	66612849	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	65193	66612849	23741904	1024	53235											
HSF4	3299	broad.mit.edu	37	chr16	67199724	67199724	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtgcgcggccgcgagcAgctactggagcgcgtgcggc	17	14	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:67199724A>G	uc002erl.1	+	5	1300	c.335A>G	c.(334-336)CAG>CGG	p.Q112R	HSF4_uc002erm.1_Missense_Mutation_p.Q112R|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_RNA	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4 isoform b	112	By similarity.				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GGCCGCGAGCAGCTACTGGAG	0.687													G	67199724	A	G	67199724	3	3	75	1	0	0	0	0	1	0	0	0	7398	188	7	3	345	3	HSF4	16	67199724	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	586875	67199724	23155029	1025	53236											
KIAA0895L	653319	broad.mit.edu	37	chr16	67210807	67210807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtagcgtgccaagtcctgCatgaagtggggcacccgggt	16	11	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:67210807C>T	uc002ert.2	-	7	2098	c.1323G>A	c.(1321-1323)ATG>ATA	p.M441I	KIAA0895L_uc002err.2_RNA|KIAA0895L_uc002ers.2_Missense_Mutation_p.M286I|KIAA0895L_uc002eru.2_3'UTR	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN	hypothetical protein LOC653319	441											0						CCAAGTCCTGCATGAAGTGGG	0.632													T	67210807	C	T	67210807	3	4	75	1	0	0	0	0	1	0	0	0	8198	710	25	2	96	2	KIAA0895L	16	67210807	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	11083	67210807	23143946	1026	53237											
LRRC36	55282	broad.mit.edu	37	chr16	67404993	67404993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaacaggacaactcctctgCggacactgctgttgtctcct	9	13	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:67404993C>T	uc002esv.2	+	9	1361	c.1342C>T	c.(1342-1344)CGG>TGG	p.R448W	LRRC36_uc002esw.2_RNA|LRRC36_uc010ceh.2_Missense_Mutation_p.R180W|LRRC36_uc002esx.2_Missense_Mutation_p.R327W|LRRC36_uc010vjk.1_Missense_Mutation_p.R327W|LRRC36_uc010vjl.1_5'UTR|LRRC36_uc002esy.2_Intron	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36 isoform 1	448											0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		AACTCCTCTGCGGACACTGCT	0.458													T	67404993	C	T	67404993	3	4	75	1	0	0	0	0	1	0	0	0	8990	759	27	1	1404	1	LRRC36	16	67404993	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	194186	67404993	22949760	1027	53238											
FAM65A	79567	broad.mit.edu	37	chr16	67575786	67575788	+	In_Frame_Del	DEL	AGG	AGG	-													tcagaacatgctgcgacggcAggaggagctggagaatggga							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:67575785_67575787CAGG>C	uc010vjp.2	+	12	1342_1344	c.1156_1158CAGG>C	c.(1156-1158)cag>C	p.Q386del	FAM65A_uc010cei.2_In_Frame_Del_p.Q208del|FAM65A_uc002eth.3_In_Frame_Del_p.Q366del|FAM65A_uc010cej.3_In_Frame_Del_p.Q370del|FAM65A_uc002eti.2_In_Frame_Del_p.Q329del|FAM65A_uc010vjq.2_In_Frame_Del_p.Q380del|FAM65A_uc002etj.1_In_Frame_Del_p.Q365del|FAM65A_uc002etk.3_In_Frame_Del_p.Q365del	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	370						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCTGCGACGGCAGGAGGAGCTGG	0.601													-	67575788	AGG	-	67575786	7	5	75	1	0	1	0	1	0	0	0	0	5599	188	7	0	1143	0	FAM65A	16	67575786	In_Frame_Del	DEL	AGG	TCGA-BR-8363-01A-11D-2340-08	170793	67575786	22778967	1028	53239											
CTCF	10664	broad.mit.edu	37	chr16	67645339	67645339	+	Frame_Shift_Del	DEL	A	A	-													cagactatcagccaccagccAaaaaaacaaagaaaaccaaa							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:67645338_67645338CA>C	uc002etl.3	+	2	1047	c.603_603CA>C	c.(601-603)gccfs	p.A201fs	CTCF_uc010cek.3_Intron	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	201					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGCCACCAGCCAAAAAAACAA	0.473													-	67645339	A	-	67645339	7	5	75	1	0	1	0	1	0	0	0	0	4000	131	5	0	606	0	CTCF	16	67645339	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	69553	67645339	22709414	1029	53240											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67861894	67861894	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagccagagcctgcaagcTaggaacttgtgggcagcctg	15	10	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:67861894T>C	uc002euj.2	+	16	2369	c.1975T>C	c.(1975-1977)TAG>CAG	p.*659Q	TSNAXIP1_uc002euf.3_3'UTR|TSNAXIP1_uc010vka.1_Nonstop_Mutation_p.*713Q|TSNAXIP1_uc010vkb.1_Nonstop_Mutation_p.*644Q|TSNAXIP1_uc002eug.3_Nonstop_Mutation_p.*367Q|TSNAXIP1_uc002euh.3_Nonstop_Mutation_p.*367Q|TSNAXIP1_uc002eui.3_Nonstop_Mutation_p.*367Q|TSNAXIP1_uc002euk.2_Nonstop_Mutation_p.*392Q	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	659					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GCCTGCAAGCTAGGAACTTGT	0.537													C	67861894	T	C	67861894	4	2	75	1	0	0	0	0	0	0	0	0	16629	1535	53	3	2029	3	TSNAXIP1	16	67861894	Nonstop_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	216555	67861894	22492859	1030	53241											
ESRP2	80004	broad.mit.edu	37	chr16	68264442	68264442	+	Frame_Shift_Del	DEL	G	G	-													gtgaggtagcccacagtggtGggggagactggggggctagg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:68264441_68264441TG>T	uc010cfa.1	-	13	2133	c.1945_1945CA>A	c.(1945-1947)accfs	p.T649fs	ESRP2_uc002evp.1_Non-coding_Transcript|ESRP2_uc002evq.1_Frame_Shift_Del_p.T639fs	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	Homo sapiens epithelial splicing regulatory protein 2 (ESRP2), mRNA.	649					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CCCACAGTGGTGGGGGAGACT	0.617													-	68264442	G	-	68264442	7	5	75	1	0	1	0	1	0	0	0	0	5259	1335	47	0	247	0	ESRP2	16	68264442	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	402548	68264442	22090311	1031	53242											
SLC7A6OS	84138	broad.mit.edu	37	chr16	68335178	68335178	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggacatcacaagaccaTcagtctgaatccaggtcgtg	9	11	4	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:68335178T>C	uc002evw.1	-	5	949	c.930A>G	c.(928-930)TGA>TGG	p.*310W	SLC7A6_uc002evt.1_3'UTR|SLC7A6_uc002evu.1_3'UTR|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA	NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite	310					protein transport	cytoplasm|nucleus				ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		CACAAGACCATCAGTCTGAAT	0.537													C	68335178	T	C	68335178	4	2	75	1	0	0	0	0	0	0	0	0	14702	1448	50	3	3	3	SLC7A6OS	16	68335178	Nonstop_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	70736	68335178	22019575	1032	53243											
TMCO7	79613	broad.mit.edu	37	chr16	68893886	68893886	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacaagtttctgaaggatcCtcagtggaagaatctgaaac	11	7	3	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:68893886C>A	uc002ewi.3	+	2	206	c.194C>A	c.(193-195)CCT>CAT	p.P65H	TMCO7_uc002ewh.2_Missense_Mutation_p.P65H	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	65						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		CTGAAGGATCCTCAGTGGAAG	0.433													A	68893886	C	A	68893886	3	1	75	1	0	0	0	0	1	0	0	0	15998	681	24	5	200	5	TMCO7	16	68893886	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	558708	68893886	21460867	1033	53244											
HAS3	3038	broad.mit.edu	37	chr16	69148719	69148719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacagcttttctaccggggCcgcatctggaacattctcct	8	13	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:69148719C>T	uc010cfh.2	+	4	1436	c.1212C>T	c.(1210-1212)GGC>GGT	p.G404G	HAS3_uc002ewk.2_Intron|HAS3_uc002ewl.2_Silent_p.G404G	NM_005329	NP_005320	O00219	HAS3_HUMAN	hyaluronan synthase 3 isoform a	404	Extracellular (Potential).				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TCTACCGGGGCCGCATCTGGA	0.547													T	69148719	C	T	69148719	2	4	75	1	0	0	0	0	0	0	0	1	6963	726	26	2		2	HAS3	16	69148719	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	254833	69148719	21206034	1034	53245											
VPS4A	27183	broad.mit.edu	37	chr16	69352755	69352755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggagaagcccaacataCggtggaacgacgtggccggg	16	9	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:69352755C>T	uc002eww.2	+	5	501	c.373C>T	c.(373-375)CGG>TGG	p.R125W		NM_013245	NP_037377	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting factor 4A	125					cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding				0		Ovarian(137;0.101)				GCCCAACATACGGTGGAACGA	0.512													T	69352755	C	T	69352755	3	4	75	1	0	0	0	0	1	0	0	0	17209	527	19	1	391	1	VPS4A	16	69352755	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	204036	69352755	21001998	1035	53246											
ZFHX3	463	broad.mit.edu	37	chr16	72821612	72821612	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccgccgccgccgccgccGccgccaccgccgccgccgcc	13	26	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:72821612G>A	uc002fck.2	-	10	11236	c.10563C>T	c.(10561-10563)GGC>GGT	p.G3521G	uc002fcj.1_RNA|ZFHX3_uc002fcl.2_Silent_p.G2607G	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3521	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				cgccgccgccgccgccaccgc	0.408													A	72821612	G	A	72821612	2	1	75	1	0	0	0	0	0	0	0	1	17631	1074	38	1		1	ZFHX3	16	72821612	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	3468857	72821612	17533141	1036	53247											
ADAMTS18	170692	broad.mit.edu	37	chr16	77323191	77323191	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagctggacagaagtttgTattacaggctcgtagcaccg	13	8	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:77323191T>C	uc002ffc.3	-	22	3939	c.3520A>G	c.(3520-3522)ACA>GCA	p.T1174A		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1174	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						CAGAAGTTTGTATTACAGGCT	0.453													C	77323191	T	C	77323191	3	2	75	1	0	0	0	0	1	0	0	0	263	1638	57	3	153	3	ADAMTS18	16	77323191	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	4501579	77323191	13031562	1037	53248											
ADAMTS18	170692	broad.mit.edu	37	chr16	77353803	77353803	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tacagacgttccgggcggttGaaagagcgctggtattcaaa	13	8	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:77353803G>T	uc002ffc.3	-	16	2894	c.2475C>A	c.(2473-2475)TTC>TTA	p.F825L	ADAMTS18_uc010chc.1_Missense_Mutation_p.F413L|ADAMTS18_uc002ffe.1_Missense_Mutation_p.F521L	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	825	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						CCGGGCGGTTGAAAGAGCGCT	0.557													T	77353803	G	T	77353803	3	4	75	1	0	0	0	0	1	0	0	0	263	1281	45	5	1222	5	ADAMTS18	16	77353803	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	30612	77353803	13000950	1038	53249											
DYNLRB2	83657	broad.mit.edu	37	chr16	80577247	80577247	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actatggttgtaaatgcagaAggtaaatatatcacaggctg	10	5	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:80577247A>C	uc002ffo.2	+	4	198	c.78A>C	c.(76-78)GAA>GAC	p.E26D	DYNLRB2_uc002ffp.2_RNA|DYNLRB2_uc002ffq.2_RNA	NM_130897	NP_570967	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2	26					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity				0						TAAATGCAGAAGGTAAATATA	0.413													C	80577247	A	C	80577247	3	2	75	1	0	0	0	0	1	0	0	0	4851	86	3	5	84	5	DYNLRB2	16	80577247	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	3223444	80577247	9777506	1039	53250											
KLHL36	79786	broad.mit.edu	37	chr16	84690644	84690644	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaactccatgttcaccatCggcatgcgggaagctttcca	8	13	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:84690644C>T	uc002fig.2	+	3	372	c.231C>T	c.(229-231)ATC>ATT	p.I77I	KLHL36_uc010chl.2_Silent_p.I76I	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	kelch-like 36	77	BTB.									skin(2)	2						TGTTCACCATCGGCATGCGGG	0.622													T	84690644	C	T	84690644	2	4	75	1	0	0	0	0	0	0	0	1	8389	874	31	1		1	KLHL36	16	84690644	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	4113397	84690644	5664109	1040	53251											
FOXC2	2303	broad.mit.edu	37	chr16	86601350	86601350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtcaaggtgccccgcgacGacaagaagcccggcaagggc	14	14	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:86601350G>A	uc002fjq.2	+	1	494	c.409G>A	c.(409-411)GAC>AAC	p.D137N		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	137	Fork-head.				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding				0						GCCCCGCGACGACAAGAAGCC	0.622									Late-onset_Hereditary_Lymphedema				A	86601350	G	A	86601350	3	1	75	1	0	0	0	0	1	0	0	0	5995	1058	37	1	411	1	FOXC2	16	86601350	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1910706	86601350	3753403	1041	53252											
FOXC2	2303	broad.mit.edu	37	chr16	86601500	86601500	+	Frame_Shift_Del	DEL	C	C	-													gggcccacctcaaggagccgCccccggcggcgtccaagggc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:86601499_86601499GC>G	uc002fjq.3	+	0	643	c.558_558GC>G	c.(556-558)ccgfs	p.P186fs		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	Homo sapiens forkhead box C2 (MFH-1, mesenchyme forkhead 1) (FOXC2), mRNA.	186					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						TCAAGGAGCCGCCCCCGGCGG	0.687									Late-onset Hereditary Lymphedema				-	86601500	C	-	86601500	7	5	75	1	0	1	0	1	0	0	0	0	5995	739	26	0	561	0	FOXC2	16	86601500	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	150	86601500	3753253	1042	53253											
FBXO31	79791	broad.mit.edu	37	chr16	87369022	87369022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgatgaggtcgtcggggCggctgggcggcaggtagatg	21	7	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:87369022C>T	uc002fjw.2	-	7	928	c.884G>A	c.(883-885)CGC>CAC	p.R295H	FBXO31_uc010vot.1_Missense_Mutation_p.R123H|FBXO31_uc002fjv.2_Missense_Mutation_p.R187H	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	295					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GTCGTCGGGGCGGCTGGGCGG	0.657													T	87369022	C	T	87369022	3	4	75	1	0	0	0	0	1	0	0	0	5741	768	27	1	747	1	FBXO31	16	87369022	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	767522	87369022	2985731	1043	53254											
ZC3H18	124245	broad.mit.edu	37	chr16	88695188	88695188	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgataaaggaagcaggaAgcgctatgaaccatcagaca	12	8	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:88695188A>G	uc002fky.2	+	16	2692	c.2492A>G	c.(2491-2493)AAG>AGG	p.K831R	ZC3H18_uc010voz.1_Missense_Mutation_p.K855R|ZC3H18_uc010chw.2_RNA|ZC3H18_uc002fkz.2_Missense_Mutation_p.K101R	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	831						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GGAAGCAGGAAGCGCTATGAA	0.632													G	88695188	A	G	88695188	3	3	75	1	0	0	0	0	1	0	0	0	17565	72	3	3	2550	3	ZC3H18	16	88695188	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1326166	88695188	1659565	1044	53255											
CBFA2T3	863	broad.mit.edu	37	chr16	88958316	88958316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagggaatgacaaacggccGcagagggaagttggtggcct	17	7	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:88958316G>A	uc002fmm.1	-	5	871	c.685C>T	c.(685-687)CGG>TGG	p.R229W	CBFA2T3_uc002fml.1_Missense_Mutation_p.R143W|CBFA2T3_uc010cif.1_Missense_Mutation_p.R168W|CBFA2T3_uc002fmn.1_Missense_Mutation_p.R204W	NM_005187	NP_005178	O75081	MTG16_HUMAN	myeloid translocation gene on chromosome 16	229	TAFH.|Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0275)		ACAAACGGCCGCAGAGGGAAG	0.577			T	RUNX1	AML								A	88958316	G	A	88958316	3	1	75	1	0	0	0	0	1	0	0	0	2698	1086	38	1	1308	1	CBFA2T3	16	88958316	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	263128	88958316	1396437	1045	53256											
CDH15	1013	broad.mit.edu	37	chr16	89245905	89245905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgggcgcctgccctgagcCgcgtgcggagggcctgggtc	19	15	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:89245905C>T	uc002fmt.2	+	2	201	c.124C>T	c.(124-126)CGC>TGC	p.R42C	CDH15_uc010cij.1_Missense_Mutation_p.R42C	NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	42					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TGCCCTGAGCCGCGTGCGGAG	0.667													T	89245905	C	T	89245905	3	4	75	1	0	0	0	0	1	0	0	0	3100	652	23	1	130	1	CDH15	16	89245905	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	287589	89245905	1108848	1046	53257											
ZNF778	197320	broad.mit.edu	37	chr16	89293428	89293428	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcataccttcaggcacgtgcGggaagtcacaacggagaaga	12	10	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:89293428G>T	uc002fmv.2	+	6	987	c.648G>T	c.(646-648)GCG>GCT	p.A216A	ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Silent_p.A174A|ZNF778_uc010vpg.1_5'UTR	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)		AGGCACGTGCGGGAAGTCACA	0.512													T	89293428	G	T	89293428	2	4	75	1	0	0	0	0	0	0	0	1	18148	1103	39	5		5	ZNF778	16	89293428	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	47523	89293428	1061325	1047	53258											
DEF8	54849	broad.mit.edu	37	chr16	90030654	90030654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggacgtgcatgccggccGcctgggctgctcgctcaccg	14	17	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:90030654G>A	uc002fpn.1	+	11	1351	c.1262G>A	c.(1261-1263)CGC>CAC	p.R421H	DEF8_uc002fpo.1_Missense_Mutation_p.R360H|DEF8_uc002fpp.1_Missense_Mutation_p.R350H|DEF8_uc010vpq.1_Missense_Mutation_p.R300H|DEF8_uc010vpr.1_Missense_Mutation_p.R343H|DEF8_uc002fpq.1_Missense_Mutation_p.R118H	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 isoform 1	421					intracellular signal transduction		zinc ion binding			central_nervous_system(1)	1		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CATGCCGGCCGCCTGGGCTGC	0.637													A	90030654	G	A	90030654	3	1	75	1	0	0	0	0	1	0	0	0	4387	1087	38	1	1380	1	DEF8	16	90030654	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	737226	90030654	324099	1048	53259											
PRDM7	11105	broad.mit.edu	37	chr16	90124855	90124855	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaagttctgagaggagTgattgcgttccacatgttga	14	6	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:90124855T>C	uc010cje.2	-	10	1341	c.1321A>G	c.(1321-1323)ACT>GCT	p.T441A	PRDM7_uc002fqo.2_Silent_p.S140S|PRDM7_uc010cjf.2_Silent_p.S229S	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	PR domain containing 7 isoform 1	441						chromosome|nucleus	nucleic acid binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTGAGAGGAGTGATTGCGTTC	0.478													C	90124855	T	C	90124855	3	2	75	1	0	0	0	0	1	0	0	0	12461	1696	59	3	161	3	PRDM7	16	90124855	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	94201	90124855	229898	1049	53260											
TSR1	55720	broad.mit.edu	37	chr17	2228714	2228714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcaatttatgtttgtccGctgccataagggttaaaaaa	8	7	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:2228714G>A	uc002fuj.2	-	12	2861	c.1904C>T	c.(1903-1905)GCG>GTG	p.A635V		NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation	635					ribosome assembly	nucleolus	protein binding			ovary(1)	1						ATGTTTGTCCGCTGCCATAAG	0.443													A	2228714	G	A	2228714	3	1	75	1	0	0	0	0	1	0	0	0	16661	1101	38	1	526	1	TSR1	17	2228714	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08		2228714	78966496	1050	53261											
KIAA0664	23277	broad.mit.edu	37	chr17	2601706	2601706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgggcgccacgtaggccGccacgtcccccccgaagtcc	13	18	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:2601706G>A	uc002fuy.1	-	10	1417	c.1331C>T	c.(1330-1332)GCG>GTG	p.A444V	KIAA0664_uc002fux.1_Missense_Mutation_p.A376V	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	444							binding			breast(2)	2						CACGTAGGCCGCCACGTCCCC	0.612													A	2601706	G	A	2601706	3	1	75	1	0	0	0	0	1	0	0	0	8189	1087	38	1	2666	1	KIAA0664	17	2601706	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	372992	2601706	78593504	1051	53262											
ITGAE	3682	broad.mit.edu	37	chr17	3646898	3646900	+	In_Frame_Del	DEL	TCC	TCC	-													cactggcattggagaagcagTcctcctcacagagctgtggg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:3646897_3646899GTCC>G	uc002fwo.4	-	18	2431_2433	c.2332_2334GGAC>C	c.(2332-2334)gac>C	p.D778del		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	778					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGGAGAAGCAGTCCTCCTCACAG	0.527													-	3646900	TCC	-	3646898	7	5	75	1	0	1	0	1	0	0	0	0	7885	1667	58	0	1258	0	ITGAE	17	3646898	In_Frame_Del	DEL	TCC	TCGA-BR-8363-01A-11D-2340-08	1045192	3646898	77548312	1052	53263											
ZNF594	84622	broad.mit.edu	37	chr17	5086549	5086549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtttaagaaaagctgtgcGcccactgaaggtcttcccac	9	11	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:5086549G>A	uc010cla.1	-	2	1159	c.1003C>T	c.(1003-1005)CGC>TGC	p.R335C		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	335	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						AAAGCTGTGCGCCCACTGAAG	0.463													A	5086549	G	A	5086549	3	1	75	1	0	0	0	0	1	0	0	0	18021	1087	38	1	1424	1	ZNF594	17	5086549	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1439651	5086549	76108661	1053	53264											
SLC16A13	201232	broad.mit.edu	37	chr17	6943212	6943212	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaactactacctccgggccCcaggaccttgtaacagaagc	8	15	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:6943212C>A	uc002geh.2	+	4	1520	c.1212C>A	c.(1210-1212)CCC>CCA	p.P404P		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	monocarboxylate transporter 13	404	Extracellular (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(1)|skin(1)	2						CCTCCGGGCCCCAGGACCTTG	0.552													A	6943212	C	A	6943212	2	1	75	1	0	0	0	0	0	0	0	1	14406	610	22	5		5	SLC16A13	17	6943212	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1856663	6943212	74251998	1054	53265											
EFNB3	1949	broad.mit.edu	37	chr17	7611436	7611436	+	Frame_Shift_Del	DEL	C	C	-													agggccggcgctgtgaggcaCcccctgccccaaacctcctt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:7611435_7611435AC>A	uc002gis.3	+	1	679	c.282_282AC>A	c.(280-282)gcafs	p.A94fs		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	94					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				GCTGTGAGGCACCCCCTGCCC	0.612													-	7611436	C	-	7611436	7	5	75	1	0	1	0	1	0	0	0	0	4957	507	18	0	289	0	EFNB3	17	7611436	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	668224	7611436	73583774	1055	53266											
DNAH2	146754	broad.mit.edu	37	chr17	7684072	7684072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgctggcaagaagcgccGcctacagccggatctgactg	12	13	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:7684072G>A	uc002giu.1	+	37	5989	c.5975G>A	c.(5974-5976)CGC>CAC	p.R1992H		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1992					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AAGAAGCGCCGCCTACAGCCG	0.552													A	7684072	G	A	7684072	3	1	75	1	0	0	0	0	1	0	0	0	4602	1087	38	1	6121	1	DNAH2	17	7684072	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	72636	7684072	73511138	1056	53267											
ARHGEF15	22899	broad.mit.edu	37	chr17	8219405	8219405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctaagtgtgagcggctccCgctgccgtccttcctgctac	10	17	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:8219405C>T	uc002glc.2	+	9	1764	c.1643C>T	c.(1642-1644)CCG>CTG	p.P548L	ARHGEF15_uc002gld.2_Missense_Mutation_p.P548L|ARHGEF15_uc010vuw.1_Missense_Mutation_p.P437L	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	548	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						GAGCGGCTCCCGCTGCCGTCC	0.677													T	8219405	C	T	8219405	3	4	75	1	0	0	0	0	1	0	0	0	898	652	23	1	1673	1	ARHGEF15	17	8219405	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	535333	8219405	72975805	1057	53268											
MYH2	4620	broad.mit.edu	37	chr17	10428240	10428240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catccagcgtgctctgcatgGactccacgattctaatgtgg	10	12	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:10428240G>A	uc010coi.2	-	34	4933	c.4805C>T	c.(4804-4806)TCC>TTC	p.S1602F	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.S1602F|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1602	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						GCTCTGCATGGACTCCACGAT	0.448													A	10428240	G	A	10428240	3	1	75	1	0	0	0	0	1	0	0	0	10035	1174	41	4	1048	4	MYH2	17	10428240	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2208835	10428240	70766970	1058	53269											
DNAH9	1770	broad.mit.edu	37	chr17	11648217	11648217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggaccaggtcctgatgcGctccttgcgggatttcaaca	12	11	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:11648217G>A	uc002gne.2	+	31	6283	c.6215G>A	c.(6214-6216)CGC>CAC	p.R2072H	DNAH9_uc010coo.2_Missense_Mutation_p.R1366H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2072					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTCCTGATGCGCTCCTTGCGG	0.612													A	11648217	G	A	11648217	3	1	75	1	0	0	0	0	1	0	0	0	4608	1087	38	1	6337	1	DNAH9	17	11648217	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1219977	11648217	69546993	1059	53270											
DNAH9	1770	broad.mit.edu	37	chr17	11833202	11833202	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacattcacctggtggccaAgtggctcagcaccctggaga	12	12	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:11833202A>C	uc002gne.2	+	63	11965	c.11897A>C	c.(11896-11898)AAG>ACG	p.K3966T	DNAH9_uc010coo.2_Intron|DNAH9_uc002gnf.2_Missense_Mutation_p.K278T	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3966	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGGTGGCCAAGTGGCTCAGC	0.557													C	11833202	A	C	11833202	3	2	75	1	0	0	0	0	1	0	0	0	4608	72	3	5	12147	5	DNAH9	17	11833202	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	184985	11833202	69362008	1060	53271											
MYOCD	93649	broad.mit.edu	37	chr17	12642606	12642606	+	Frame_Shift_Del	DEL	C	C	-													gcggggaagcaggggcttggCccccccagcacccccatagc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:12642605_12642605GC>G	uc002gno.2	+	6	976	c.677_677GC>G	c.(676-678)ggcfs	p.G226fs	MYOCD_uc002gnn.2_Frame_Shift_Del_p.G226fs|MYOCD_uc002gnp.1_Frame_Shift_Del_p.G130fs	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	226					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAGGGGCTTGGCCCCCCCAGC	0.582													-	12642606	C	-	12642606	7	5	75	1	0	1	0	1	0	0	0	0	10087	726	26	0	704	0	MYOCD	17	12642606	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	809404	12642606	68552604	1061	53272											
RICH2	9912	broad.mit.edu	37	chr17	12887995	12887995	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatggactgagctaccctcAggggtactccttggcctcgg	12	13	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:12887995A>G	uc002gnr.3	+	20	2414	c.2087A>G	c.(2086-2088)CAG>CGG	p.Q696R	RICH2_uc010vvk.1_Missense_Mutation_p.Q696R|RICH2_uc010vvl.1_Missense_Mutation_p.Q690R|RICH2_uc002gns.3_Missense_Mutation_p.Q490R|RICH2_uc010vvm.1_Missense_Mutation_p.Q690R|RICH2_uc010vvn.1_RNA	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	696					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						AGCTACCCTCAGGGGTACTCC	0.662													G	12887995	A	G	12887995	3	3	75	1	0	0	0	0	1	0	0	0	13357	188	7	3	2165	3	RICH2	17	12887995	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	245389	12887995	68307215	1062	53273											
CCDC144A	9720	broad.mit.edu	37	chr17	16612530	16612530	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actctgggtcccaggaacatGtttgccagtcatcttctaag	9	11	4	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:16612530G>C	uc002gqk.1	+	5	1235	c.1159G>C	c.(1159-1161)GTT>CTT	p.V387L	CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	387											0						CCAGGAACATGTTTGCCAGTC	0.363													C	16612530	G	C	16612530	3	2	75	1	0	0	0	0	1	0	0	0	2777	1377	48	5	1177	5	CCDC144A	17	16612530	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	3724535	16612530	64582680	1063	53274											
SREBF1	6720	broad.mit.edu	37	chr17	17722984	17722984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacgggcgggacccctggCggggaagccagtggcaggcc	20	12	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:17722984C>T	uc002gru.1	-	3	773	c.579G>A	c.(577-579)CCG>CCA	p.P193P	SREBF1_uc002grp.1_5'Flank|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_5'UTR|SREBF1_uc002grs.1_Silent_p.P169P|SREBF1_uc002grt.1_Silent_p.P223P|SREBF1_uc010cpp.1_Silent_p.P169P|SREBF1_uc010cpq.1_Silent_p.P193P	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	193	Cytoplasmic (Potential).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						GGACCCCTGGCGGGGAAGCCA	0.662													T	17722984	C	T	17722984	2	4	75	1	0	0	0	0	0	0	0	1	15140	755	27	1		1	SREBF1	17	17722984	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1110454	17722984	63472226	1064	53275											
C17orf39	79018	broad.mit.edu	37	chr17	17957481	17957481	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcgaaggagaaataaTcagcaaaaaacaccctttct	5	10	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:17957481T>A	uc002gsg.1	+	3	707	c.539T>A	c.(538-540)ATC>AAC	p.I180N		NM_024052	NP_076957	Q8IVV7	CQ039_HUMAN	hypothetical protein LOC79018	180										skin(1)	1	all_neural(463;0.228)					GGAGAAATAATCAGCAAAAAA	0.393													A	17957481	T	A	17957481	3	1	75	1	0	0	0	0	1	0	0	0	1855	1435	50	5	549	5	C17orf39	17	17957481	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	234497	17957481	63237729	1065	53276											
MYO15A	51168	broad.mit.edu	37	chr17	18023041	18023041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacacctacggctacggctaCgacgattacgaacccccata	7	15	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:18023041C>T	uc010vxh.1	+	2	1265	c.927C>T	c.(925-927)TAC>TAT	p.Y309Y		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	309	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					GCTACGGCTACGACGATTACG	0.607													T	18023041	C	T	18023041	2	4	75	1	0	0	0	0	0	0	0	1	10063	547	19	1		1	MYO15A	17	18023041	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	65560	18023041	63172169	1066	53277											
ALKBH5	54890	broad.mit.edu	37	chr17	18088243	18088243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgactctgcgctgtgcttcgGctgcaagttccagttcaagc	11	13	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:18088243G>A	uc010cpw.2	+	1	1377	c.686G>A	c.(685-687)GGC>GAC	p.G229D	uc002gsn.2_5'Flank|ALKBH5_uc010cpx.2_Intron	NM_017758	NP_060228	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5	229						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0	all_neural(463;0.228)					CTGTGCTTCGGCTGCAAGTTC	0.622													A	18088243	G	A	18088243	3	1	75	1	0	0	0	0	1	0	0	0	530	1203	42	2	688	2	ALKBH5	17	18088243	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	65202	18088243	63106967	1067	53278											
NLK	51701	broad.mit.edu	37	chr17	26449740	26449740	+	Frame_Shift_Del	DEL	T	T	-													cgggaattgaagatgttgtgTttttttaagcatgataatgt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:26449739_26449739GT>G	uc010crj.3	+	1	781	c.569_569GT>G	c.(568-570)tgtfs	p.C190fs		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	190	Protein kinase.				Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AAGATGTTGTGTTTTTTTAAG	0.388													-	26449740	T	-	26449740	7	5	75	1	0	1	0	1	0	0	0	0	10466	1731	60	0	576	0	NLK	17	26449740	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	8361497	26449740	54745470	1068	53279											
SEBOX	645832	broad.mit.edu	37	chr17	26691899	26691899	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtagggccatgctgcaaacGccctctccagctccagtagc	11	15	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:26691899G>T	uc010wai.1	-	2	202	c.188C>A	c.(187-189)GCG>GAG	p.A63E	SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_Missense_Mutation_p.A62E|SARM1_uc010waj.1_Intron	NM_001080837	NP_001074306	Q9HB31	SEBOX_HUMAN	SEBOX homeobox isoform 1	63	Homeobox.				cell differentiation|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TGCTGCAAACGCCCTCTCCAG	0.627													T	26691899	G	T	26691899	3	4	75	1	0	0	0	0	1	0	0	0	13977	1087	38	5	470	5	SEBOX	17	26691899	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	242159	26691899	54503311	1069	53280											
ALDOC	230	broad.mit.edu	37	chr17	26901545	26901545	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgacaacgtttgaggtcGtggtctccatcaggcaatat	10	9	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:26901545G>A	uc002hbp.2	-	6	736	c.591C>T	c.(589-591)CAC>CAT	p.H197H	PIGS_uc002hbo.2_5'Flank|PIGS_uc010wap.1_5'Flank|ALDOC_uc010cro.2_Intron	NM_005165	NP_005156	P09972	ALDOC_HUMAN	fructose-bisphosphate aldolase C	197					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			ovary(1)	1	Lung NSC(42;0.00431)					GTTTGAGGTCGTGGTCTCCAT	0.522													A	26901545	G	A	26901545	2	1	75	1	0	0	0	0	0	0	0	1	509	1136	40	1		1	ALDOC	17	26901545	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	209646	26901545	54293665	1070	53281											
ALDOC	230	broad.mit.edu	37	chr17	26901984	26901984	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctataccttgagtggtggttTctccatcagtcccagctaga	9	11	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:26901984T>C	uc002hbp.2	-	4	510	c.365A>G	c.(364-366)GAA>GGA	p.E122G	ALDOC_uc010cro.2_Missense_Mutation_p.E122G	NM_005165	NP_005156	P09972	ALDOC_HUMAN	fructose-bisphosphate aldolase C	122					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			ovary(1)	1	Lung NSC(42;0.00431)					AGTGGTGGTTTCTCCATCAGT	0.517											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	26901984	T	C	26901984	3	2	75	1	0	0	0	0	1	0	0	0	509	1783	62	3	753	3	ALDOC	17	26901984	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	439	26901984	54293226	1071	53282											
PROCA1	147011	broad.mit.edu	37	chr17	27031862	27031862	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcaggctccttgcagtcacCtgagggggcaggagtctggg	17	10	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:27031862C>A	uc002hcb.3	-	3	301	c.98_splice	c.e3-1	p.G33_splice	PROCA1_uc010crv.2_Splice_Site|PROCA1_uc002hca.1_Splice_Site_p.G31_splice	NM_152465	NP_689678	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1						lipid catabolic process		calcium ion binding|phospholipase A2 activity			ovary(1)	1	Lung NSC(42;0.00431)					TTGCAGTCACCTGAGGGGGCA	0.582													A	27031862	C	A	27031862	5	1	75	1	0	0	0	0	0	0	1	0	12546	695	24	5	931	5	PROCA1	17	27031862	Splice_Site	SNP	C	TCGA-BR-8363-01A-11D-2340-08	129878	27031862	54163348	1072	53283											
MYO18A	399687	broad.mit.edu	37	chr17	27448161	27448161	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagcatcgccctgtatgcGgtctgggccactgcatagat	11	12	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:27448161G>A	uc002hdt.1	-	6	1598	c.1440C>T	c.(1438-1440)ACC>ACT	p.T480T	MYO18A_uc010wbc.1_Silent_p.T22T|MYO18A_uc002hds.2_Silent_p.T22T|MYO18A_uc010csa.1_Silent_p.T480T|MYO18A_uc002hdu.1_Silent_p.T480T|MYO18A_uc010wbd.1_Silent_p.T149T	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	480	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCCTGTATGCGGTCTGGGCCA	0.587													A	27448161	G	A	27448161	2	1	75	1	0	0	0	0	0	0	0	1	10065	1103	39	1		1	MYO18A	17	27448161	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	416299	27448161	53747049	1073	53284											
NF1	4763	broad.mit.edu	37	chr17	29556373	29556373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaagtgggacttcaaataCggaccaatgttaaggatctg	11	6	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:29556373C>T	uc002hgg.2	+	21	3073	c.2740C>T	c.(2740-2742)CGG>TGG	p.R914W	NF1_uc002hgh.2_Missense_Mutation_p.R914W|NF1_uc010csn.1_Missense_Mutation_p.R774W|NF1_uc002hgi.1_Translation_Start_Site	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	914					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACTTCAAATACGGACCAATGT	0.413			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29556373	C	T	29556373	3	4	75	1	0	0	0	0	1	0	0	0	10356	527	19	1	2883	1	NF1	17	29556373	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2108212	29556373	51638837	1074	53285											
CDK5R1	8851	broad.mit.edu	37	chr17	30814868	30814868	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacagcagctaccagaacaAcatcacgcacctcaacaatg	5	15	2	1	rs150042369	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:30814868A>G	uc002hhn.2	+	2	451	c.230A>G	c.(229-231)AAC>AGC	p.N77S	CDK5R1_uc010wca.1_Missense_Mutation_p.N77S|CDK5R1_uc010ctc.2_5'UTR	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1	77					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			TACCAGAACAACATCACGCAC	0.597													G	30814868	A	G	30814868	3	3	75	1	0	0	0	0	1	0	0	0	3143	43	2	3	232	3	CDK5R1	17	30814868	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1258495	30814868	50380342	1075	53286											
SPACA3	124912	broad.mit.edu	37	chr17	31322545	31322545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggctccacctctgccgcCggcatagaagccaggagcag	14	14	1	1	rs139396445		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:31322545C>T	uc002hhs.1	+	2	228	c.153C>T	c.(151-153)GCC>GCT	p.A51A	SPACA3_uc010cte.1_RNA	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	51	Cytoplasmic (Potential).				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.193)			CCTCTGCCGCCGGCATAGAAG	0.612													T	31322545	C	T	31322545	2	4	75	1	0	0	0	0	0	0	0	1	14973	639	23	1		1	SPACA3	17	31322545	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	507677	31322545	49872665	1076	53287											
RFFL	117584	broad.mit.edu	37	chr17	33445634	33445645	+	Splice_Site	DEL	AGGGCCTGCCAA	AGGGCCTGCCAA	-													gcacccgcctcagggcaaccAgggcctgccaaagggcccca					rs140317560	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:33445633_33445644CAGGGCCTGCCAA>C	uc002hir.2	-	3	401	c.145_splice	c.e3-1	p.A49_splice	RFFL_uc002hiq.2_Intron|RFFL_uc010wce.1_Splice_Site|RFFL_uc010wcd.1_Intron|RFFL_uc002hit.2_Intron|RFFL_uc002hiu.2_Intron|RFFL_uc002his.2_Intron|RFFL_uc010ctk.2_Splice_Site|RFFL_uc010wcf.1_Splice_Site|RFFL_uc002hiw.1_Splice_Site|RFFL_uc002hiv.1_Splice_Site|RFFL_uc010ctl.1_Splice_Site|RFFL_uc010ctm.1_Splice_Site|FNDC8_uc002hix.3_5'Flank	NM_002878	NP_002869	Q8WZ73	RFFL_HUMAN	Homo sapiens RAD51 homolog D (S. cerevisiae) (RAD51D), transcript variant 1, mRNA.	0					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TCAGGGCAACCAGGGCCTGCCAAAGGGCCCCA	0.575													-	33445645	AGGGCCTGCCAA	-	33445634	8	5	75	1	0	1	0	1	0	0	1	0	13250	188	7	0		0	RFFL	17	33445634	Splice_Site	DEL	AGGGCCTGCCAA	TCGA-BR-8363-01A-11D-2340-08	2123089	33445634	47749576	1077	53288											
UNC45B	146862	broad.mit.edu	37	chr17	33504125	33504125	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgctgctgtctccaatccGgacattgcttttcctgggga	10	12	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:33504125G>A	uc002hja.2	+	16	2218	c.2121G>A	c.(2119-2121)CCG>CCA	p.P707P	UNC45B_uc002hjb.2_Silent_p.P705P|UNC45B_uc002hjc.2_Silent_p.P705P|UNC45B_uc010cto.2_Silent_p.P626P	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	707					cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)				TCTCCAATCCGGACATTGCTT	0.572													A	33504125	G	A	33504125	2	1	75	1	0	0	0	0	0	0	0	1	16986	1103	39	1		1	UNC45B	17	33504125	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	58491	33504125	47691085	1078	53289											
SYNRG	11276	broad.mit.edu	37	chr17	35900495	35900495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcacctccacctctcccGtcaggtctttgtacttgtct	5	17	5	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:35900495G>A	uc002hoa.2	-	16	3436	c.3353C>T	c.(3352-3354)ACG>ATG	p.T1118M	SYNRG_uc010wde.1_Missense_Mutation_p.T1040M|SYNRG_uc010wdf.1_Missense_Mutation_p.T1040M|SYNRG_uc002hoc.2_Missense_Mutation_p.T1039M|SYNRG_uc002hoe.2_Missense_Mutation_p.T1040M|SYNRG_uc002hod.2_Missense_Mutation_p.T995M|SYNRG_uc010wdg.1_Missense_Mutation_p.T912M|SYNRG_uc002hob.2_Missense_Mutation_p.T1118M	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	1118					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						CACCTCTCCCGTCAGGTCTTT	0.542													A	35900495	G	A	35900495	3	1	75	1	0	0	0	0	1	0	0	0	15457	1145	40	1	692	1	SYNRG	17	35900495	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2396370	35900495	45294715	1079	53290											
SRCIN1	80725	broad.mit.edu	37	chr17	36708254	36708254	+	Frame_Shift_Del	DEL	G	G	-													tgcaggttcagcggggggctGgggggtggcatttcgaagtc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:36708253_36708253TG>T	uc002hqd.3	-	13	2821	c.2596_2596CA>A	c.(2596-2598)agcfs	p.S866fs	SRCIN1_uc002hqf.1_Frame_Shift_Del_p.S738fs|SRCIN1_uc002hqe.2_Frame_Shift_Del_p.S720fs|SRCIN1_uc002hqg.3_Frame_Shift_Del_p.S172fs	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	738	Pro-rich.				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						AGCGGGGGGCTGGGGGGTGGC	0.617													-	36708254	G	-	36708254	7	5	75	1	0	1	0	1	0	0	0	0	15135	1335	47	0	980	0	SRCIN1	17	36708254	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	807759	36708254	44486956	1080	53291											
MED1	5469	broad.mit.edu	37	chr17	37564730	37564730	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgagcctgaggatcctaaCcctgaagatgacttcatgcc	9	12	1	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:37564730C>T	uc002hrv.3	-	17	3956	c.3744G>A	c.(3742-3744)GGG>GGA	p.G1248G	MED1_uc010wee.1_Silent_p.G1076G|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1248	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AGGATCCTAACCCTGAAGATG	0.488										HNSCC(31;0.082)			T	37564730	C	T	37564730	2	4	75	1	0	0	0	0	0	0	0	1	9425	494	18	4		4	MED1	17	37564730	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	856476	37564730	43630480	1081	53292											
PSMD3	5709	broad.mit.edu	37	chr17	38153770	38153770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccccaggaacggcgtgagcGagaacagcaggacttggagt	15	10	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:38153770G>A	uc002htn.1	+	12	1705	c.1541G>A	c.(1540-1542)CGA>CAA	p.R514Q	PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Missense_Mutation_p.R415Q	NM_002809	NP_002800	O43242	PSMD3_HUMAN	proteasome 26S non-ATPase subunit 3	514					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			ovary(1)|pancreas(1)	2	Colorectal(19;0.000442)					CGGCGTGAGCGAGAACAGCAG	0.592													A	38153770	G	A	38153770	3	1	75	1	0	0	0	0	1	0	0	0	12699	1058	37	1	1587	1	PSMD3	17	38153770	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	589040	38153770	43041440	1082	53293											
TNS4	84951	broad.mit.edu	37	chr17	38643661	38643661	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggctggactttccaaggaTctggaagatgactgatggct	13	7	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:38643661T>G	uc010cxb.2	-	4	1079	c.915A>C	c.(913-915)AGA>AGC	p.R305S		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	305	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TTTCCAAGGATCTGGAAGATG	0.582													G	38643661	T	G	38643661	3	3	75	1	0	0	0	0	1	0	0	0	16342	1432	50	5	1272	5	TNS4	17	38643661	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	489891	38643661	42551549	1083	53294											
CNP	1267	broad.mit.edu	37	chr17	40120342	40120342	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcggctgacgcttacaAgatcacccccggcgctcgag	13	14	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:40120342A>G	uc002hyl.1	+	2	404	c.260A>G	c.(259-261)AAG>AGG	p.K87R	CNP_uc002hyk.1_Missense_Mutation_p.K87R|CNP_uc010wfz.1_Missense_Mutation_p.K87R|CNP_uc002hym.1_Missense_Mutation_p.K67R|CNP_uc010wga.1_Intron	NM_033133	NP_149124	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	87					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding				0		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GACGCTTACAAGATCACCCCC	0.622													G	40120342	A	G	40120342	3	3	75	1	0	0	0	0	1	0	0	0	3626	72	3	3	266	3	CNP	17	40120342	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1476681	40120342	41074868	1084	53295											
PTRF	284119	broad.mit.edu	37	chr17	40575027	40575027	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgacggctcctccgctgccTgagccccagcggaggaaggc	14	17	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:40575027T>C	uc002hzo.2	-	1	248	c.89A>G	c.(88-90)CAG>CGG	p.Q30R	PTRF_uc010wgi.1_Missense_Mutation_p.Q30R	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	30					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(1)	1		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CTCCGCTGCCTGAGCCCCAGC	0.677													C	40575027	T	C	40575027	3	2	75	1	0	0	0	0	1	0	0	0	12815	1580	55	3	1091	3	PTRF	17	40575027	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	454685	40575027	40620183	1085	53296											
COASY	80347	broad.mit.edu	37	chr17	40715058	40715058	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtgcgttacgccaccagcTgttacagctgttgtccgcga	11	12	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:40715058T>G	uc002hzz.2	+	2	575	c.418T>G	c.(418-420)TGT>GGT	p.C140G	COASY_uc010cyj.2_Missense_Mutation_p.C169G|COASY_uc002iab.2_5'UTR|COASY_uc002iad.2_Missense_Mutation_p.C140G|COASY_uc002iac.2_Missense_Mutation_p.C140G|COASY_uc002iae.2_5'Flank	NM_001042529	NP_001035994	Q13057	COASY_HUMAN	coenzyme A synthase isoform a	140					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity				0		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CGCCACCAGCTGTTACAGCTG	0.582													G	40715058	T	G	40715058	3	3	75	1	0	0	0	0	1	0	0	0	3652	1580	55	5	511	5	COASY	17	40715058	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	140031	40715058	40480152	1086	53297											
CNTNAP1	8506	broad.mit.edu	37	chr17	40835908	40835908	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcctcctcctactacagtcTccttactgcgccgagattcg	7	17	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:40835908T>G	uc002iay.2	+	2	353	c.137T>G	c.(136-138)CTC>CGC	p.L46R	CCR10_uc002iax.3_5'Flank|CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	46	Extracellular (Potential).|F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TACTACAGTCTCCTTACTGCG	0.657													G	40835908	T	G	40835908	3	3	75	1	0	0	0	0	1	0	0	0	3646	1551	54	5	143	5	CNTNAP1	17	40835908	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	120850	40835908	40359302	1087	53298											
AOC2	314	broad.mit.edu	37	chr17	40998188	40998188	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagagtgctgggaacggtGcacacacatgccttccactt	11	11	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:40998188G>A	uc002ibu.2	+	1	1580	c.1545G>A	c.(1543-1545)GTG>GTA	p.V515V	AOC2_uc002ibt.2_Silent_p.V515V	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	515					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			ovary(2)	2		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGGGAACGGTGCACACACATG	0.602													A	40998188	G	A	40998188	2	1	75	1	0	0	0	0	0	0	0	1	727	1306	46	2		2	AOC2	17	40998188	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	162280	40998188	40197022	1088	53299											
RPL27	6155	broad.mit.edu	37	chr17	41151963	41151963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttagaacattgatgatgGcacctcagatcgcccctaca	7	12	1	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:41151963G>A	uc002icj.2	+	3	140	c.95G>A	c.(94-96)GGC>GAC	p.G32D	RPL27_uc002ick.2_Missense_Mutation_p.G32D	NM_000988	NP_000979	P61353	RL27_HUMAN	ribosomal protein L27	32	KOW.				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	structural constituent of ribosome				0		Breast(137;0.000717)|Ovarian(249;0.0776)		BRCA - Breast invasive adenocarcinoma(366;0.157)		ATTGATGATGGCACCTCAGAT	0.473													A	41151963	G	A	41151963	3	1	75	1	0	0	0	0	1	0	0	0	13575	1203	42	2	101	2	RPL27	17	41151963	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	153775	41151963	40043247	1089	53300											
GPATCH8	23131	broad.mit.edu	37	chr17	42476786	42476786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtcatcagagtaactgcGctgtctactatagcagctct	9	11	4	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:42476786G>A	uc002igw.1	-	8	2723	c.2659C>T	c.(2659-2661)CGC>TGC	p.R887C	GPATCH8_uc002igv.1_Missense_Mutation_p.R809C|GPATCH8_uc010wiz.1_Missense_Mutation_p.R809C	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	887	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GAGTAACTGCGCTGTCTACTA	0.537													A	42476786	G	A	42476786	3	1	75	1	0	0	0	0	1	0	0	0	6594	1087	38	1	1853	1	GPATCH8	17	42476786	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1324823	42476786	38718424	1090	53301											
CDC27	996	broad.mit.edu	37	chr17	45235659	45235659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctgatcctttggcaagccGatctgtcttgctgtggagag	12	9	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:45235659G>A	uc002ild.3	-	5	515	c.388C>T	c.(388-390)CGG>TGG	p.R130W	CDC27_uc002ile.3_Missense_Mutation_p.R130W|CDC27_uc002ilf.3_Missense_Mutation_p.R130W|CDC27_uc010wkp.1_Missense_Mutation_p.R69W|CDC27_uc010wkq.1_RNA	NM_001256	NP_001247	P30260	CDC27_HUMAN	cell division cycle protein 27 isoform 2	130	TPR 2.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			lung(2)|breast(2)|ovary(1)	5						TTGGCAAGCCGATCTGTCTTG	0.368													A	45235659	G	A	45235659	3	1	75	1	0	0	0	0	1	0	0	0	3066	1057	37	1	2164	1	CDC27	17	45235659	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2758873	45235659	35959551	1091	53302											
HOXB3	3213	broad.mit.edu	37	chr17	46628219	46628219	+	Frame_Shift_Del	DEL	C	C	-													ggctgccggctggagatgggCcccccgacgacgaggccaat							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:46628218_46628218GC>G	uc002inn.3	-	1	1174	c.774_774GC>C	c.(772-774)ggcfs	p.G258fs	HOXB3_uc010wlm.2_Frame_Shift_Del_p.G185fs|HOXB3_uc010dbf.3_Frame_Shift_Del_p.G258fs|HOXB3_uc010dbg.3_Frame_Shift_Del_p.G258fs|HOXB3_uc002ino.3_Frame_Shift_Del_p.G258fs|HOXB3_uc010wlk.2_Frame_Shift_Del_p.G126fs|HOXB3_uc010wll.2_Frame_Shift_Del_p.G185fs	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	258					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CTGGAGATGGGCCCCCCGACG	0.637											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	46628219	C	-	46628219	7	5	75	1	0	1	0	1	0	0	0	0	7302	739	26	0	526	0	HOXB3	17	46628219	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	1392560	46628219	34566991	1092	53303											
HOXB3	3213	broad.mit.edu	37	chr17	46629737	46629738	+	Frame_Shift_Ins	INS	-	-	G													gcggcctgaaatgggggttgINSgggggggacatcgaagccga							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:46629736_46629737T>TG	uc002inn.3	-	0	500_501	c.100_101A>CA	c.(100-102)caafs	p.Q34fs	HOXB3_uc010wlm.2_Intron|HOXB3_uc010dbf.3_Frame_Shift_Ins_p.Q34fs|HOXB3_uc010dbg.3_Frame_Shift_Ins_p.Q34fs|HOXB3_uc002ino.3_Frame_Shift_Ins_p.Q34fs|HOXB3_uc010wlk.2_Intron|HOXB3_uc010wll.2_Intron	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	34					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						AAATGGGGGTTGGGGGGGGACA	0.634													G	46629738	-	G	46629737	7	5	75	1	0	1	1	0	0	0	0	0	7302	1357	47	0	1203	0	HOXB3	17	46629737	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	1518	46629737	34565473	1093	53304											
ITGA3	3675	broad.mit.edu	37	chr17	48157693	48157693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgatgcccccgttgtcaCcaacgtgactgtgaaggcac	10	15	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:48157693C>T	uc010dbl.2	+	22	3238	c.2774C>T	c.(2773-2775)ACC>ATC	p.T925I	ITGA3_uc010dbm.2_Missense_Mutation_p.T925I	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	925	Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						CCCGTTGTCACCAACGTGACT	0.602													T	48157693	C	T	48157693	3	4	75	1	0	0	0	0	1	0	0	0	7877	507	18	4	2860	4	ITGA3	17	48157693	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1527956	48157693	33037517	1094	53305											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602													-	48433967	C	-	48433967	7	5	75	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	276274	48433967	32761243	1095	53306											
BZRAP1	9256	broad.mit.edu	37	chr17	56389047	56389047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatcccaggggagggcccaGgctcgatctgcacatccaga	13	13	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:56389047G>A	uc002ivx.3	-	18	3837	c.2966C>T	c.(2965-2967)CCT>CTT	p.P989L	BZRAP1_uc010dcs.2_Missense_Mutation_p.P929L|BZRAP1_uc010wnt.1_Missense_Mutation_p.P989L	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	989	Fibronectin type-III 3.					mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGAGGGCCCAGGCTCGATCTG	0.617													A	56389047	G	A	56389047	3	1	75	1	0	0	0	0	1	0	0	0	1577	1000	35	4	2663	4	BZRAP1	17	56389047	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	7955080	56389047	24806163	1096	53307											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	75	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	46114	56435161	24760049	1097	53308											
C17orf47	284083	broad.mit.edu	37	chr17	56620397	56620397	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaggtccttgggacatgTaagtaatttctgggggtttt	14	4	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:56620397T>C	uc002iwq.1	-	1	1287	c.1151A>G	c.(1150-1152)TAC>TGC	p.Y384C	SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	hypothetical protein LOC284083	384										breast(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGGGACATGTAAGTAATTTC	0.512													C	56620397	T	C	56620397	3	2	75	1	0	0	0	0	1	0	0	0	1858	1638	57	3	569	3	C17orf47	17	56620397	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	185236	56620397	24574813	1098	53309											
PPM1E	22843	broad.mit.edu	37	chr17	56833469	56833469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggagccggaacccgaaccCgaacccgaacccgaacccga	10	19	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:56833469C>T	uc002iwx.2	+	1	238	c.111C>T	c.(109-111)CCC>CCT	p.P37P	PPM1E_uc010ddd.2_5'UTR	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	37	Glu-rich.|4.|11 X 2 AA tandem repeats of P-E.|Pro-rich.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			aacccgaacccgaacccgaac	0.428													T	56833469	C	T	56833469	2	4	75	1	0	0	0	0	0	0	0	1	12338	639	23	1		1	PPM1E	17	56833469	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	213072	56833469	24361741	1099	53310											
PPM1E	22843	broad.mit.edu	37	chr17	57058285	57058285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggataagaagttctctgCcatggaggcaaaatagttgg	12	5	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:57058285C>T	uc002iwx.2	+	7	2288	c.2161C>T	c.(2161-2163)CCA>TCA	p.P721S	PPM1E_uc010ddd.2_Missense_Mutation_p.P484S	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	730					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			AAGTTCTCTGCCATGGAGGCA	0.423													T	57058285	C	T	57058285	3	4	75	1	0	0	0	0	1	0	0	0	12338	739	26	2	2187	2	PPM1E	17	57058285	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	224816	57058285	24136925	1100	53311											
TRIM37	4591	broad.mit.edu	37	chr17	57126658	57126658	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgcagacttcttagctcGtgtctccagagcatcatcat	8	12	4	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:57126658G>A	uc002iwy.3	-	15	1855	c.1411C>T	c.(1411-1413)CGA>TGA	p.R471*	TRIM37_uc002iwz.3_Nonsense_Mutation_p.R471*|TRIM37_uc002ixa.3_Nonsense_Mutation_p.R349*|TRIM37_uc010woc.1_Nonsense_Mutation_p.R437*	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	471						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTCTTAGCTCGTGTCTCCAGA	0.453									Mulibrey_Nanism				A	57126658	G	A	57126658	4	1	75	1	0	0	0	0	0	1	0	0	16508	1153	40	1	1531	1	TRIM37	17	57126658	Nonsense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	68373	57126658	24068552	1101	53312											
APPBP2	10513	broad.mit.edu	37	chr17	58525054	58525054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctgtcactgaatattgcCgatctcgcaaccggttccag	8	13	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:58525054C>T	uc002iys.1	-	13	1934	c.1646G>A	c.(1645-1647)CGG>CAG	p.R549Q	APPBP2_uc010ddl.1_Missense_Mutation_p.R478Q	NM_006380	NP_006371	Q92624	APBP2_HUMAN	amyloid beta precursor protein-binding protein	549					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TGAATATTGCCGATCTCGCAA	0.443													T	58525054	C	T	58525054	3	4	75	1	0	0	0	0	1	0	0	0	816	652	23	1	115	1	APPBP2	17	58525054	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1398396	58525054	22670156	1102	53313											
MED13	9969	broad.mit.edu	37	chr17	60042538	60042538	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatactgccaaagggtggaAacgaaggtagtttatttgat	11	5	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:60042538A>G	uc002izo.2	-	20	4750	c.4673T>C	c.(4672-4674)TTT>TCT	p.F1558S		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1558	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						AAAGGGTGGAAACGAAGGTAG	0.433													G	60042538	A	G	60042538	3	3	75	1	0	0	0	0	1	0	0	0	9430	14	1	3	1895	3	MED13	17	60042538	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1517484	60042538	21152672	1103	53314											
MRC2	9902	broad.mit.edu	37	chr17	60766976	60766976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccggctgcttcagaagcCgctgcgctggcacgatgccc	12	16	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:60766976C>T	uc002jad.2	+	24	3830	c.3428C>T	c.(3427-3429)CCG>CTG	p.P1143L	MRC2_uc002jae.2_Missense_Mutation_p.P214L|MRC2_uc002jaf.2_Intron	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1143	Extracellular (Potential).|C-type lectin 7.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CTTCAGAAGCCGCTGCGCTGG	0.697													T	60766976	C	T	60766976	3	4	75	1	0	0	0	0	1	0	0	0	9758	652	23	1	3522	1	MRC2	17	60766976	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	724438	60766976	20428234	1104	53315											
SMURF2	64750	broad.mit.edu	37	chr17	62582238	62582238	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttatcaaataaacgactgcAgtccacaacttgtcctcctg	6	12	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:62582238A>G	uc002jep.1	-	6	839	c.451T>C	c.(451-453)TGC>CGC	p.C151R	SMURF2_uc002jeq.1_Intron|SMURF2_uc002jer.1_5'UTR	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	151					BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			skin(3)|lung(1)	4	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			AAACGACTGCAGTCCACAACT	0.328													G	62582238	A	G	62582238	3	3	75	1	0	0	0	0	1	0	0	0	14820	188	7	3	1851	3	SMURF2	17	62582238	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1815262	62582238	18612972	1105	53316											
PRKCA	5578	broad.mit.edu	37	chr17	64683239	64683239	+	Frame_Shift_Del	DEL	A	A	-													ctcttcacagtacgagatgcAaaaaatctaatccctatgga							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:64683238_64683238CA>C	uc002jfo.1	+	6	644	c.152_152CA>C	c.(151-153)gcafs	p.A51fs	PRKCA_uc002jfp.1_Frame_Shift_Del_p.A180fs			P17252	KPCA_HUMAN	Homo sapiens protein kinase C, alpha (PRKCA), mRNA.	180					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GTACGAGATGCAAAAAATCTA	0.378													-	64683239	A	-	64683239	7	5	75	1	0	1	0	1	0	0	0	0	12507	117	5	0	562	0	PRKCA	17	64683239	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	2101001	64683239	16511971	1106	53317											
CACNG5	27091	broad.mit.edu	37	chr17	64873455	64873455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacggtccaggaagatgaGtgcctgcgggaggaaggccc	17	10	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:64873455G>A	uc010wqi.1	+	2	242	c.5G>A	c.(4-6)AGT>AAT	p.S2N	CACNG5_uc002jfr.2_Missense_Mutation_p.S2N|CACNG5_uc010wqj.1_Missense_Mutation_p.S2N	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	2					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			AGGAAGATGAGTGCCTGCGGG	0.632													A	64873455	G	A	64873455	3	1	75	1	0	0	0	0	1	0	0	0	2560	1029	36	4	7	4	CACNG5	17	64873455	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	190216	64873455	16321755	1107	53318											
BPTF	2186	broad.mit.edu	37	chr17	65909216	65909216	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgaaaaggaggaatccgagAggtcccttattttaattaca	9	8	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:65909216A>G	uc002jgf.2	+	11	5277	c.5216A>G	c.(5215-5217)GAG>GGG	p.E1739G	BPTF_uc002jge.2_Missense_Mutation_p.E1865G	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1865					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGAATCCGAGAGGTCCCTTAT	0.393													G	65909216	A	G	65909216	3	3	75	1	0	0	0	0	1	0	0	0	1495	304	11	3	5644	3	BPTF	17	65909216	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1035761	65909216	15285994	1108	53319											
SOX9	6662	broad.mit.edu	37	chr17	70120419	70120419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacatgaaccccgctcagcGccccatgtacacccccatcg	6	20	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:70120419G>A	uc002jiw.2	+	3	1793	c.1421G>A	c.(1420-1422)CGC>CAC	p.R474H		NM_000346	NP_000337	P48436	SOX9_HUMAN	transcription factor SOX9	474					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription				0		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CCCGCTCAGCGCCCCATGTAC	0.637													A	70120419	G	A	70120419	3	1	75	1	0	0	0	0	1	0	0	0	14958	1087	38	1	1431	1	SOX9	17	70120419	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	4211203	70120419	11074791	1109	53320											
C17orf28	283987	broad.mit.edu	37	chr17	72947725	72947725	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccagacaggggggtccacAttcctgtggaggaaatgggg	16	8	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:72947725A>G	uc002jmj.3	-	19	2456	c.2307T>C	c.(2305-2307)AAT>AAC	p.N769N	C17orf28_uc002jmi.2_Silent_p.N171N|C17orf28_uc010wrs.1_Silent_p.N568N	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	hypothetical protein LOC283987	769						integral to membrane|plasma membrane	protein binding				0	all_lung(278;0.151)|Lung NSC(278;0.185)					GGGGGTCCACATTCCTGTGGA	0.607													G	72947725	A	G	72947725	2	3	75	1	0	0	0	0	0	0	0	1	1853	214	8	3		3	C17orf28	17	72947725	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	2827306	72947725	8247485	1110	53321											
LLGL2	3993	broad.mit.edu	37	chr17	73566223	73566223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttggtgcagtgtcagccCccggctgtggtcacctcctt	13	13	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:73566223C>T	uc002joh.2	+	15	1915	c.1761C>T	c.(1759-1761)CCC>CCT	p.P587P	LLGL2_uc002joi.2_Silent_p.P587P|LLGL2_uc010dgg.1_Silent_p.P587P|LLGL2_uc002joj.2_Silent_p.P576P|LLGL2_uc010wsd.1_Silent_p.P214P	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	587					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGTGTCAGCCCCCGGCTGTGG	0.682													T	73566223	C	T	73566223	2	4	75	1	0	0	0	0	0	0	0	1	8834	610	22	4		4	LLGL2	17	73566223	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	618498	73566223	7628987	1111	53322											
UNC13D	201294	broad.mit.edu	37	chr17	73838637	73838638	+	Frame_Shift_Ins	INS	-	-	C													atgccgggacccggggctgcINScccctggcacacctaccccc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:73838636_73838637G>GC	uc002jpp.3	-	5	826_827	c.446_447C>GC	c.(445-447)ggcfs	p.G149fs	UNC13D_uc010wsk.1_Frame_Shift_Ins_p.G149fs|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_5'UTR	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	149	C2 1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCCGGGGCTGCCCCCTGGCAC	0.678									Familial Hemophagocytic Lymphohistiocytosis				C	73838638	-	C	73838637	7	5	75	1	0	1	1	0	0	0	0	0	16984	739	26	0	2934	0	UNC13D	17	73838637	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	272414	73838637	7356573	1112	53323											
EVPL	2125	broad.mit.edu	37	chr17	74017836	74017836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttcacgctctgctcctgGctcagcagctcgtgctgctt	11	14	3	0	rs148449976	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:74017836G>A	uc002jqi.2	-	8	1062	c.834C>T	c.(832-834)AGC>AGT	p.S278S	EVPL_uc010wss.1_Silent_p.S278S|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	278	Spectrin.|Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						TCTGCTCCTGGCTCAGCAGCT	0.657													A	74017836	G	A	74017836	2	1	75	1	0	0	0	0	0	0	0	1	5292	1194	42	2		2	EVPL	17	74017836	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	179199	74017836	7177374	1113	53324											
SRP68	6730	broad.mit.edu	37	chr17	74042211	74042211	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcagcagagccctctGcagacctttggccatgttct	10	14	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:74042211G>A	uc002jqk.1	-	11	1242	c.1207C>T	c.(1207-1209)CAG>TAG	p.Q403*	SRP68_uc010wsu.1_Nonsense_Mutation_p.Q302*|SRP68_uc002jql.1_Nonsense_Mutation_p.Q365*|SRP68_uc002jqj.1_Nonsense_Mutation_p.Q64*	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	403					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						AGAGCCCTCTGCAGACCTTTG	0.527													A	74042211	G	A	74042211	4	1	75	1	0	0	0	0	0	1	0	0	15155	1328	46	2	700	2	SRP68	17	74042211	Nonsense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	24375	74042211	7152999	1114	53325											
ZACN	353174	broad.mit.edu	37	chr17	74078041	74078041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggctgggctgctggcccGgggcaaccttggggccaaga	18	12	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:74078041G>A	uc002jqn.2	+	8	1042	c.959G>A	c.(958-960)CGG>CAG	p.R320Q	ZACN_uc002jqo.2_RNA|ZACN_uc010dgu.2_RNA|EXOC7_uc002jqp.1_3'UTR|EXOC7_uc010dgv.1_3'UTR|EXOC7_uc002jqs.2_3'UTR|EXOC7_uc002jqq.2_3'UTR|EXOC7_uc010wsw.1_3'UTR|EXOC7_uc010wsx.1_3'UTR|EXOC7_uc002jqr.2_3'UTR|EXOC7_uc010wsv.1_3'UTR	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	320	Cytoplasmic (Potential).				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity				0						CTGCTGGCCCGGGGCAACCTT	0.667													A	74078041	G	A	74078041	3	1	75	1	0	0	0	0	1	0	0	0	17507	1116	39	1	989	1	ZACN	17	74078041	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	35830	74078041	7117169	1115	53326											
CARD14	79092	broad.mit.edu	37	chr17	78180824	78180824	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgcaccctgcacaggaTggacatcttccccatcgtca	8	15	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:78180824T>C	uc002jxw.1	+	20	2942	c.2747T>C	c.(2746-2748)ATG>ACG	p.M916T	CARD14_uc002jxt.1_RNA	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	916	Guanylate kinase-like.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGCACAGGATGGACATCTTC	0.577													C	78180824	T	C	78180824	3	2	75	1	0	0	0	0	1	0	0	0	2646	1464	51	3	2986	3	CARD14	17	78180824	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	4102783	78180824	3014386	1116	53327											
RNF213	57674	broad.mit.edu	37	chr17	78343450	78343450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcttcgtccaaaaggggCgcttaagagatgctgcccag	11	12	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:78343450C>T	uc002jyh.1	+	20	6746	c.6523C>T	c.(6523-6525)CGC>TGC	p.R2175C	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.R557C	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCAAAAGGGGCGCTTAAGAGA	0.517													T	78343450	C	T	78343450	3	4	75	1	0	0	0	0	1	0	0	0	13477	768	27	1	12797	1	RNF213	17	78343450	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	162626	78343450	2851760	1117	53328											
C17orf70	80233	broad.mit.edu	37	chr17	79511073	79511073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcgccctgcaaatgtcgGccagagaggagctttccact	13	12	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:79511073G>A	uc002kaq.2	-	7	2439	c.2384C>T	c.(2383-2385)GCC>GTC	p.A795V	C17orf70_uc002kao.1_Missense_Mutation_p.A444V|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Missense_Mutation_p.A644V	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	795					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			ovary(1)|skin(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GCAAATGTCGGCCAGAGAGGA	0.637													A	79511073	G	A	79511073	3	1	75	1	0	0	0	0	1	0	0	0	1877	1203	42	2	273	2	C17orf70	17	79511073	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1167623	79511073	1684137	1118	53329											
C17orf70	80233	broad.mit.edu	37	chr17	79517723	79517723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaagggcatttgggtcaCcaggggctgacctggaggtg	17	8	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:79517723C>T	uc002kaq.2	-	3	852	c.797G>A	c.(796-798)GGT>GAT	p.G266D	C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Missense_Mutation_p.G115D	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	266					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			ovary(1)|skin(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ATTTGGGTCACCAGGGGCTGA	0.602													T	79517723	C	T	79517723	3	4	75	1	0	0	0	0	1	0	0	0	1877	507	18	4	1876	4	C17orf70	17	79517723	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	6650	79517723	1677487	1119	53330											
ARHGDIA	396	broad.mit.edu	37	chr17	79827069	79827069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgacgcctttcctgtacGtatgctggatgtacttcatg	9	10	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:79827069G>A	uc002kbp.2	-	4	434	c.395C>T	c.(394-396)ACG>ATG	p.T132M	ARHGDIA_uc002kjk.1_Missense_Mutation_p.T7M|ARHGDIA_uc002kbq.2_Missense_Mutation_p.T132M|ARHGDIA_uc002kbr.2_Missense_Mutation_p.T132M|ARHGDIA_uc002kbs.1_Intron|ARHGDIA_uc002kbt.1_Missense_Mutation_p.T132M|ARHGDIA_uc010dig.1_RNA	NM_004309	NP_004300	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	132					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TTTCCTGTACGTATGCTGGAT	0.677													A	79827069	G	A	79827069	3	1	75	1	0	0	0	0	1	0	0	0	890	1145	40	1	227	1	ARHGDIA	17	79827069	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	309346	79827069	1368141	1120	53331											
LRRC45	201255	broad.mit.edu	37	chr17	79982976	79982976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcagcggctggacctcCgcaacaaccagatcagtcac	9	17	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:79982976C>T	uc002kde.2	+	4	694	c.454C>T	c.(454-456)CGC>TGC	p.R152C	STRA13_uc002kdc.2_5'Flank|STRA13_uc002kdd.2_5'Flank	NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	152	LRR 4.					centrosome				pancreas(1)	1	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCTGGACCTCCGCAACAACCA	0.697													T	79982976	C	T	79982976	3	4	75	1	0	0	0	0	1	0	0	0	9002	652	23	1	468	1	LRRC45	17	79982976	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	155907	79982976	1212234	1121	53332											
FASN	2194	broad.mit.edu	37	chr17	80048926	80048926	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggctcagccccatcccGcgccactgtgtgcccatccc	9	19	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:80048926G>A	uc002kdu.2	-	10	1629	c.1512C>T	c.(1510-1512)CGC>CGT	p.R504R	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	504	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GCCCCATCCCGCGCCACTGTG	0.647													A	80048926	G	A	80048926	2	1	75	1	0	0	0	0	0	0	0	1	5683	1074	38	1		1	FASN	17	80048926	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	65950	80048926	1146284	1122	53333											
TBCD	6904	broad.mit.edu	37	chr17	80858557	80858557	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggctttcctgagtacacGcagccaatgatagaccacct	9	14	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:80858557G>A	uc002kfz.2	+	18	1810	c.1680G>A	c.(1678-1680)ACG>ACA	p.T560T	TBCD_uc002kfx.1_Silent_p.T543T|TBCD_uc002kfy.1_Silent_p.T560T|TBCD_uc002kgb.1_5'UTR	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	560	HEAT 2.				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTGAGTACACGCAGCCAATGA	0.308													A	80858557	G	A	80858557	2	1	75	1	0	0	0	0	0	0	0	1	15630	1074	38	1		1	TBCD	17	80858557	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	809631	80858557	336653	1123	53334											
EPB41L3	23136	broad.mit.edu	37	chr18	5394733	5394733	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtctctttatggaccactacTttggtcactgacatgtcagg	9	10	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:5394733T>A	uc002kmt.1	-	22	3299	c.3213A>T	c.(3211-3213)AAA>AAT	p.K1071N	EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Missense_Mutation_p.K849N|EPB41L3_uc010dkq.1_Missense_Mutation_p.K740N|EPB41L3_uc002kms.1_Missense_Mutation_p.K306N|EPB41L3_uc010wze.1_Missense_Mutation_p.K376N|EPB41L3_uc010wzf.1_Missense_Mutation_p.K368N|EPB41L3_uc010wzg.1_Missense_Mutation_p.K343N|EPB41L3_uc010dkr.2_Missense_Mutation_p.K463N	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1071	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GGACCACTACTTTGGTCACTG	0.507													A	5394733	T	A	5394733	3	1	75	1	0	0	0	0	1	0	0	0	5154	1606	56	5	54	5	EPB41L3	18	5394733	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08		5394733	72682515	1124	53335											
L3MBTL4	91133	broad.mit.edu	37	chr18	6215765	6215765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccattttaaaaactttgGcaggaactgcattggtttga	8	6	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:6215765G>A	uc002kmz.3	-	11	1014	c.854C>T	c.(853-855)GCC>GTC	p.A285V	L3MBTL4_uc010dkt.2_Missense_Mutation_p.A285V|L3MBTL4_uc002kmy.3_Missense_Mutation_p.A123V	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4	285	MBT 3.				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)				AAAAACTTTGGCAGGAACTGC	0.333													A	6215765	G	A	6215765	3	1	75	1	0	0	0	0	1	0	0	0	8594	1203	42	2	1057	2	L3MBTL4	18	6215765	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	821032	6215765	71861483	1125	53336											
LAMA1	284217	broad.mit.edu	37	chr18	7013871	7013871	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagaccctgctccaggttGcaggcgtcccccgacgtccc	11	18	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:7013871G>A	uc002knm.2	-	23	3400	c.3306C>T	c.(3304-3306)TGC>TGT	p.C1102C	LAMA1_uc010wzj.1_Silent_p.C578C	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1102	Laminin EGF-like 13.				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)	GCTCCAGGTTGCAGGCGTCCC	0.602													A	7013871	G	A	7013871	2	1	75	1	0	0	0	0	0	0	0	1	8605	1311	46	2		2	LAMA1	18	7013871	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	798106	7013871	71063377	1126	53337											
RAB12	201475	broad.mit.edu	37	chr18	8635547	8635547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtatgcttcagaagatgCagagcttctcttagttggaa	10	7	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:8635547C>T	uc002knp.2	+	4	726	c.443C>T	c.(442-444)GCA>GTA	p.A148V		NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	148					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding				0						TCAGAAGATGCAGAGCTTCTC	0.448													T	8635547	C	T	8635547	3	4	75	1	0	0	0	0	1	0	0	0	12898	710	25	2	457	2	RAB12	18	8635547	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1621676	8635547	69441701	1127	53338											
KIAA0802	23255	broad.mit.edu	37	chr18	8784549	8784549	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacaccgacagcttcctccAtgatgcggggctgcggggtg	16	12	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:8784549A>G	uc002knr.2	+	6	1581	c.1439A>G	c.(1438-1440)CAT>CGT	p.H480R	KIAA0802_uc002knq.2_Missense_Mutation_p.H480R|KIAA0802_uc010dkw.1_Missense_Mutation_p.H318R	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	831											0						AGCTTCCTCCATGATGCGGGG	0.687													G	8784549	A	G	8784549	3	3	75	1	0	0	0	0	1	0	0	0	8194	217	8	3	1453	3	KIAA0802	18	8784549	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	149002	8784549	69292699	1128	53339											
APCDD1	147495	broad.mit.edu	37	chr18	10487675	10487675	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtgcggggccgagggctcCtggcaggtgggcatccagca	19	11	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:10487675C>A	uc002kom.3	+	5	1539	c.1185C>A	c.(1183-1185)TCC>TCA	p.S395S		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	395	Extracellular (Potential).				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding				0				READ - Rectum adenocarcinoma(15;0.08)		CCGAGGGCTCCTGGCAGGTGG	0.577													A	10487675	C	A	10487675	2	1	75	1	0	0	0	0	0	0	0	1	765	668	24	5		5	APCDD1	18	10487675	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1703126	10487675	67589573	1129	53340											
CIDEA	1149	broad.mit.edu	37	chr18	12264361	12264361	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactctggtgctggaggaagAtggcaccgtggtggacacag	16	9	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:12264361A>G	uc002kqt.3	+	3	304	c.239A>G	c.(238-240)GAT>GGT	p.D80G	CIDEA_uc002kqu.3_Missense_Mutation_p.D114G|CIDEA_uc010dlc.2_RNA	NM_001279	NP_001270	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a isoform	80	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			ovary(1)|central_nervous_system(1)	2						CTGGAGGAAGATGGCACCGTG	0.502													G	12264361	A	G	12264361	3	3	75	1	0	0	0	0	1	0	0	0	3425	333	12	3	393	3	CIDEA	18	12264361	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1776686	12264361	65812887	1130	53341											
C18orf8	29919	broad.mit.edu	37	chr18	21110257	21110257	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagctatctctggacatgcTgaaggtaactctgatgtgtg	11	8	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:21110257T>C	uc010xax.1	+	19	1785	c.1664T>C	c.(1663-1665)CTG>CCG	p.L555P	C18orf8_uc002kul.2_RNA|C18orf8_uc010xay.1_Missense_Mutation_p.L179P|NPC1_uc010dlu.1_Intron	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	555	Mic1.									ovary(1)	1	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTGGACATGCTGAAGGTAACT	0.443													C	21110257	T	C	21110257	3	2	75	1	0	0	0	0	1	0	0	0	1907	1580	55	3	1734	3	C18orf8	18	21110257	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	8845896	21110257	56966991	1131	53342											
CABYR	26256	broad.mit.edu	37	chr18	21736075	21736075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtggcaaccagtatgcctGttgttatcaaggaggtgcca	12	8	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:21736075G>A	uc002kux.2	+	4	762	c.610G>A	c.(610-612)GTT>ATT	p.V204I	CABYR_uc010xbb.1_Missense_Mutation_p.V106I|CABYR_uc002kuy.2_Intron|CABYR_uc002kuz.2_Intron|CABYR_uc002kva.2_Missense_Mutation_p.V186I|CABYR_uc002kvb.2_Intron|CABYR_uc002kvc.2_Intron|CABYR_uc010dlw.2_RNA	NM_012189	NP_036321	O75952	CABYR_HUMAN	calcium-binding tyrosine	204					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding				0	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CAGTATGCCTGTTGTTATCAA	0.468													A	21736075	G	A	21736075	3	1	75	1	0	0	0	0	1	0	0	0	2536	1377	48	4	620	4	CABYR	18	21736075	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	625818	21736075	56341173	1132	53343											
KLHL14	57565	broad.mit.edu	37	chr18	30350355	30350355	+	Frame_Shift_Del	DEL	G	G	-													cgccgacccctcccccgagaGgggggtggctggagaagagc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:30350354_30350354AG>A	uc002kxm.1	-	1	589	c.201_201CT>T	c.(199-201)cctfs	p.P67fs		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	67	BTB.					cytosol|endoplasmic reticulum membrane		p.P66T(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CTCCCCCGAGAGGGGGGTGGC	0.721													-	30350355	G	-	30350355	7	5	75	1	0	1	0	1	0	0	0	0	8370	1000	35	0	1718	0	KLHL14	18	30350355	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	8614280	30350355	47726893	1133	53344											
ZNF396	252884	broad.mit.edu	37	chr18	32953924	32953924	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctggatgatgcttctgcacCcaggcctgaagctcttttgg	11	11	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:32953924C>A	uc010xcf.1	-	2	465	c.333G>T	c.(331-333)TGG>TGT	p.W111C		NM_145756	NP_665699	Q96N95	ZN396_HUMAN	zinc finger protein 396	111	SCAN box.				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GCTTCTGCACCCAGGCCTGAA	0.552													A	32953924	C	A	32953924	3	1	75	1	0	0	0	0	1	0	0	0	17879	624	22	5	684	5	ZNF396	18	32953924	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2603569	32953924	45123324	1134	53345											
FHOD3	80206	broad.mit.edu	37	chr18	34297930	34297930	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaggagaagggggatgGggaggctgggaggacccagc	22	5	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:34297930G>T	uc002kzt.1	+	15	2190	c.2093G>T	c.(2092-2094)GGG>GTG	p.G698V	FHOD3_uc002kzs.1_Missense_Mutation_p.G715V|FHOD3_uc010dmz.1_Missense_Mutation_p.G430V|FHOD3_uc010dna.1_Missense_Mutation_p.G18V	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	698					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AAGGGGGATGGGGAGGCTGGG	0.572													T	34297930	G	T	34297930	3	4	75	1	0	0	0	0	1	0	0	0	5883	1232	43	5	2206	5	FHOD3	18	34297930	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1344006	34297930	43779318	1135	53346											
SETBP1	26040	broad.mit.edu	37	chr18	42531797	42531797	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaacctggaagctgtctcCacccagactgatggccaact	10	13	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:42531797C>A	uc010dni.2	+	4	2788	c.2492C>A	c.(2491-2493)CCA>CAA	p.P831Q		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	831						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGCTGTCTCCACCCAGACTG	0.512									Schinzel-Giedion_syndrome				A	42531797	C	A	42531797	3	1	75	1	0	0	0	0	1	0	0	0	14129	594	21	5	2695	5	SETBP1	18	42531797	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	8233867	42531797	35545451	1136	53347											
SLC14A2	8170	broad.mit.edu	37	chr18	43217142	43217142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggacagagatggaaatgCccctggtaagttacccagcg	12	11	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:43217142C>T	uc010dnj.2	+	7	1159	c.838C>T	c.(838-840)CCC>TCC	p.P280S	SLC14A2_uc002lbb.2_Missense_Mutation_p.P280S|SLC14A2_uc002lbe.2_Missense_Mutation_p.P280S	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	280	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						GATGGAAATGCCCCTGGTAAG	0.517													T	43217142	C	T	43217142	3	4	75	1	0	0	0	0	1	0	0	0	14397	739	26	2	856	2	SLC14A2	18	43217142	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	685345	43217142	34860106	1137	53348											
PIAS2	9063	broad.mit.edu	37	chr18	44444174	44444175	+	Frame_Shift_Ins	INS	-	-	A													gaggtgtcaaagcaaaaataINSaaaaacttctcttgaaatcg					rs146174831		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:44444173_44444174T>TA	uc002lck.3	-	2	724_725	c.537_538A>TA	c.(535-540)tttattfs	p.F179fs	PIAS2_uc010dnp.3_Intron|PIAS2_uc010xda.2_5'UTR|PIAS2_uc002lcl.3_Frame_Shift_Ins_p.F179fs|PIAS2_uc002lcm.3_Frame_Shift_Ins_p.F179fs|PIAS2_uc002lcn.1_Frame_Shift_Ins_p.F183fs	NM_004671	NP_004662	O75928	PIAS2_HUMAN	Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA.	179	PINIT.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding	p.I180F(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						AAAGCAAAAATAAAAAACTTCT	0.312													A	44444175	-	A	44444174	7	5	75	1	0	1	1	0	0	0	0	0	11876	359	13	0	1451	0	PIAS2	18	44444174	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	1227032	44444174	33633074	1138	53349											
LIPG	9388	broad.mit.edu	37	chr18	47101749	47101749	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgcaggtttggatccTgccgggcccatgtttgaagg	14	10	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:47101749T>G	uc002ldv.2	+	5	834	c.582T>G	c.(580-582)CCT>CCG	p.P194P	LIPG_uc002ldu.1_Silent_p.P194P|LIPG_uc010xdh.1_Intron	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	endothelial lipase precursor	194					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			ovary(1)|skin(1)	2						GTTTGGATCCTGCCGGGCCCA	0.552													G	47101749	T	G	47101749	2	3	75	1	0	0	0	0	0	0	0	1	8823	1567	55	5		5	LIPG	18	47101749	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	2657575	47101749	30975499	1139	53350											
DCC	1630	broad.mit.edu	37	chr18	51013277	51013277	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttcactctccggcctgtgCcattcccaacactctcagtg	7	16	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:51013277C>A	uc002lfe.1	+	26	4434	c.3847C>A	c.(3847-3849)CCA>ACA	p.P1283T	DCC_uc010dpf.1_Missense_Mutation_p.P918T	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1283	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCGGCCTGTGCCATTCCCAAC	0.517													A	51013277	C	A	51013277	3	1	75	1	0	0	0	0	1	0	0	0	4282	739	26	5	3949	5	DCC	18	51013277	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3911528	51013277	27063971	1140	53351											
ZNF532	55205	broad.mit.edu	37	chr18	56587380	56587380	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtacaagtgcttggagTgtggggactcctttgcactt	15	7	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:56587380T>C	uc002lho.2	+	4	2408	c.1861T>C	c.(1861-1863)TGT>CGT	p.C621R	ZNF532_uc002lhp.2_Missense_Mutation_p.C619R|ZNF532_uc010xeg.1_Missense_Mutation_p.C619R|ZNF532_uc002lhr.2_Missense_Mutation_p.C619R|ZNF532_uc002lhs.2_Missense_Mutation_p.C619R	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	621	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						GTGCTTGGAGTGTGGGGACTC	0.537													C	56587380	T	C	56587380	3	2	75	1	0	0	0	0	1	0	0	0	17969	1696	59	3	1863	3	ZNF532	18	56587380	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	5574103	56587380	21489868	1141	53352											
CDH20	28316	broad.mit.edu	37	chr18	59166590	59166590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctcaagccctagacaggCggacgggcaggccaatggag	17	11	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:59166590C>T	uc010dps.1	+	2	430	c.418C>T	c.(418-420)CGG>TGG	p.R140W	CDH20_uc002lif.2_Missense_Mutation_p.R134W	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	140	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				CCTAGACAGGCGGACGGGCAG	0.537													T	59166590	C	T	59166590	3	4	75	1	0	0	0	0	1	0	0	0	3106	759	27	1	424	1	CDH20	18	59166590	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2579210	59166590	18910658	1142	53353											
DSEL	92126	broad.mit.edu	37	chr18	65178798	65178799	+	Frame_Shift_Ins	INS	-	-	A													aagctcctaaaacttcctgaINSaaaaaatgaagctttaacgt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:65178797_65178798G>GA	uc002lke.1	-	1	4302_4303	c.3078_3079C>TC	c.(3076-3081)tttcagfs	p.F1026fs	DSEL_uc021ulg.1_Frame_Shift_Ins_p.F1026fs	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	1016						integral to membrane	isomerase activity|sulfotransferase activity	p.Q1027fs*4(2)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAAACTTCCTGAAAAAAATGAA	0.406													A	65178799	-	A	65178798	7	5	75	1	0	1	1	0	0	0	0	0	4775	243	9	0	594	0	DSEL	18	65178798	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	6012208	65178798	12898450	1143	53354											
FBXO15	201456	broad.mit.edu	37	chr18	71796797	71796797	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaacatgctccatgatatAttcttttccacctttttctt	2	11	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:71796797A>G	uc002lle.2	-	5	736	c.400T>C	c.(400-402)TAT>CAT	p.Y134H	FBXO15_uc002llf.2_Missense_Mutation_p.Y210H	NM_152676	NP_689889	Q8NCQ5	FBX15_HUMAN	F-box protein 15 isoform 1	134										ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TCCATGATATATTCTTTTCCA	0.328													G	71796797	A	G	71796797	3	3	75	1	0	0	0	0	1	0	0	0	5728	449	16	3	928	3	FBXO15	18	71796797	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	6617999	71796797	6280451	1144	53355											
CNDP1	84735	broad.mit.edu	37	chr18	72234643	72234643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaatcacttacggaacccGggggaacagctacttcatgg	11	11	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:72234643G>A	uc002llq.2	+	6	942	c.731G>A	c.(730-732)CGG>CAG	p.R244Q	CNDP1_uc002lls.2_Missense_Mutation_p.R47Q	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	carnosinase 1 precursor	244					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity				0		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TACGGAACCCGGGGGAACAGC	0.498													A	72234643	G	A	72234643	3	1	75	1	0	0	0	0	1	0	0	0	3593	1116	39	1	753	1	CNDP1	18	72234643	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	437846	72234643	5842605	1145	53356											
ZNF407	55628	broad.mit.edu	37	chr18	72775630	72775630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagtcgctccccccgagGcatcctcagccctggatgca	11	17	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:72775630G>A	uc002llw.2	+	8	6010	c.5953G>A	c.(5953-5955)GCA>ACA	p.A1985T		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1985					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TCCCCCCGAGGCATCCTCAGC	0.617													A	72775630	G	A	72775630	3	1	75	1	0	0	0	0	1	0	0	0	17884	1203	42	2	6113	2	ZNF407	18	72775630	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	540987	72775630	5301618	1146	53357											
MBP	4155	broad.mit.edu	37	chr18	74729102	74729102	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggcggatcaagtgggggcGgctccctgggtcagctgggt	20	9	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:74729102G>T	uc010xfd.1	-	4	526	c.262C>A	c.(262-264)CGC>AGC	p.R88S	MBP_uc002lml.2_5'Flank|MBP_uc002lmn.2_5'Flank|MBP_uc002lmp.2_5'Flank|MBP_uc010xfe.1_5'UTR|MBP_uc002lmr.2_Missense_Mutation_p.R88S	NM_001025101	NP_001020272	P02686	MBP_HUMAN	Golli-mbp isoform 1	88					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			haematopoietic_and_lymphoid_tissue(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		AAGTGGGGGCGGCTCCCTGGG	0.632													T	74729102	G	T	74729102	3	4	75	1	0	0	0	0	1	0	0	0	9359	1116	39	5	776	5	MBP	18	74729102	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1953472	74729102	3348146	1147	53358											
MBP	4155	broad.mit.edu	37	chr18	74817205	74817205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttaattctcgtttgcctgCgtggtttcccatcctgaatg	8	10	1	1	rs149191307		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:74817205C>T	uc010xfd.1	-	2	277	c.13G>A	c.(13-15)GCA>ACA	p.A5T	MBP_uc002lmr.2_Missense_Mutation_p.A5T	NM_001025101	NP_001020272	P02686	MBP_HUMAN	Golli-mbp isoform 1	5					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			haematopoietic_and_lymphoid_tissue(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		CGTTTGCCTGCGTGGTTTCCC	0.433													T	74817205	C	T	74817205	3	4	75	1	0	0	0	0	1	0	0	0	9359	768	27	1	1033	1	MBP	18	74817205	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	88103	74817205	3260043	1148	53359											
GALR1	2587	broad.mit.edu	37	chr18	74963088	74963088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcagtggcccgaccctcGccacaagaaggcctacgtgg	14	14	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:74963088G>A	uc002lms.3	+	1	1081	c.584G>A	c.(583-585)CGC>CAC	p.R195H		NM_001480	NP_001471	P47211	GALR1_HUMAN	galanin receptor 1	195	Extracellular (Potential).				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			lung(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CCCGACCCTCGCCACAAGAAG	0.662													A	74963088	G	A	74963088	3	1	75	1	0	0	0	0	1	0	0	0	6227	1087	38	1	586	1	GALR1	18	74963088	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	145883	74963088	3114160	1149	53360											
PARD6G	84552	broad.mit.edu	37	chr18	77918110	77918110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggtccagcgtcttcccGgccacctcaatgccgttcac	8	18	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:77918110G>A	uc002lny.2	-	3	841	c.675C>T	c.(673-675)GCC>GCT	p.A225A	LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfn.1_Intron|LOC100130522_uc010xfo.1_Intron	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	PAR-6 gamma protein	225	PDZ.|Interaction with PARD3 and CDC42 (By similarity).				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding				0		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		GCGTCTTCCCGGCCACCTCAA	0.637													A	77918110	G	A	77918110	2	1	75	1	0	0	0	0	0	0	0	1	11447	1103	39	1		1	PARD6G	18	77918110	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2955022	77918110	159138	1150	53361											
C19orf22	91300	broad.mit.edu	37	chr19	899642	899642	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacacggcctggggggacacGgagaagaaccgaagcagccg	16	11	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:899642G>A	uc002lqg.2	-	6	674	c.606C>T	c.(604-606)TCC>TCT	p.S202S	C19orf22_uc002lqh.2_Silent_p.S181S|C19orf22_uc002lqi.2_Missense_Mutation_p.R202C|C19orf22_uc002lqj.2_Silent_p.S80S	NM_138774	NP_620129	Q96D70	CS022_HUMAN	hypothetical protein LOC91300	202	R3H.					nucleus	nucleic acid binding			pancreas(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGGGACACGGAGAAGAACC	0.697													A	899642	G	A	899642	2	1	75	1	0	0	0	0	0	0	0	1	1914	1103	39	1		1	C19orf22	19	899642	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08		899642	58229341	1151	53362											
KISS1R	84634	broad.mit.edu	37	chr19	920352	920352	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcgcggctggtggcggcCgtggtcctgctcttcgccgc	16	15	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:920352C>T	uc002lqk.3	+	5	962	c.801C>T	c.(799-801)GCC>GCT	p.A267A		NM_032551	NP_115940	Q969F8	KISSR_HUMAN	G protein-coupled receptor 54	267	Helical; Name=6; (Potential).				behavior	integral to membrane|plasma membrane	neuropeptide receptor activity|protein binding			pancreas(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGGCGGCCGTGGTCCTGC	0.736													T	920352	C	T	920352	2	4	75	1	0	0	0	0	0	0	0	1	8328	639	23	1		1	KISS1R	19	920352	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	20710	920352	58208631	1152	53363											
WDR18	57418	broad.mit.edu	37	chr19	991989	991989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgccatcctgctggcgccCgtcagcatgctgagctcaga	12	16	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:991989C>T	uc002lqm.1	+	8	992	c.966C>T	c.(964-966)CCC>CCT	p.P322P	WDR18_uc002lqn.1_RNA|WDR18_uc010drx.1_Silent_p.P285P|WDR18_uc010dry.1_Silent_p.P322P	NM_024100	NP_077005	Q9BV38	WDR18_HUMAN	WD repeat domain 18	322										skin(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGGCGCCCGTCAGCATGC	0.552													T	991989	C	T	991989	2	4	75	1	0	0	0	0	0	0	0	1	17275	639	23	1		1	WDR18	19	991989	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	71637	991989	58136994	1153	53364											
GRIN3B	116444	broad.mit.edu	37	chr19	1004918	1004918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcgccccgtgccctgcGcaagtgctgctacggctact	11	17	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:1004918G>A	uc002lqo.1	+	3	1418	c.1418G>A	c.(1417-1419)CGC>CAC	p.R473H		NM_138690	NP_619635	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic,	473	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity				0		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CGTGCCCTGCGCAAGTGCTGC	0.687													A	1004918	G	A	1004918	3	1	75	1	0	0	0	0	1	0	0	0	6784	1087	38	1	1428	1	GRIN3B	19	1004918	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	12929	1004918	58124065	1154	53365											
ATP8B3	148229	broad.mit.edu	37	chr19	1802642	1802642	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcgcctcacacgtcactgTgcctgtgggtggccaggtgg	16	12	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:1802642T>C	uc002ltw.2	-	11	1141	c.907A>G	c.(907-909)ACA>GCA	p.T303A	ATP8B3_uc002ltv.2_Missense_Mutation_p.T250A|ATP8B3_uc002ltx.2_RNA|ATP8B3_uc002lty.1_Missense_Mutation_p.T51A|ATP8B3_uc002ltz.1_Missense_Mutation_p.T250A	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	303	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGTCACTGTGCCTGTGGGT	0.612													C	1802642	T	C	1802642	3	2	75	1	0	0	0	0	1	0	0	0	1196	1696	59	3	3119	3	ATP8B3	19	1802642	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	797724	1802642	57326341	1155	53366											
CSNK1G2	1455	broad.mit.edu	37	chr19	1978697	1978697	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggaggacctgttcgaccTgtgcgaccggaccttcacgc	12	15	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:1978697T>G	uc002lul.3	+	6	918	c.395T>G	c.(394-396)CTG>CGG	p.L132R	CSNK1G2_uc010dsu.2_Missense_Mutation_p.L84R	NM_001319	NP_001310	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	132	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			stomach(1)	1		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTTCGACCTGTGCGACCGG	0.478													G	1978697	T	G	1978697	3	3	75	1	0	0	0	0	1	0	0	0	3955	1580	55	5	409	5	CSNK1G2	19	1978697	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	176055	1978697	57150286	1156	53367											
BTBD2	55643	broad.mit.edu	37	chr19	1990129	1990129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactcggcctcggaccagcGgacaacggcattgaacagcc	11	15	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:1990129G>A	uc002lup.1	-	5	862	c.862C>T	c.(862-864)CGC>TGC	p.R288C	BTBD2_uc002luo.1_5'UTR	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	288						cytoplasmic mRNA processing body	protein binding			ovary(1)|skin(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGACCAGCGGACAACGGCA	0.657													A	1990129	G	A	1990129	3	1	75	1	0	0	0	0	1	0	0	0	1543	1116	39	1	735	1	BTBD2	19	1990129	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	11432	1990129	57138854	1157	53368											
DOT1L	84444	broad.mit.edu	37	chr19	2191077	2191077	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggactcctgcgccatatcCtgcagcaggtctacaaccac	8	16	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:2191077C>A	uc002lvb.3	+	5	367	c.331C>A	c.(331-333)CTG>ATG	p.L111M		NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	111						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCCATATCCTGCAGCAGGT	0.632													A	2191077	C	A	2191077	3	1	75	1	0	0	0	0	1	0	0	0	4709	680	24	5	349	5	DOT1L	19	2191077	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	200948	2191077	56937906	1158	53369											
LMNB2	84823	broad.mit.edu	37	chr19	2433843	2433843	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtccgagttgttcttgAgctgcacaaacttgccctcc	8	14	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:2433843A>G	uc002lvy.2	-	8	1490	c.1403T>C	c.(1402-1404)CTC>CCC	p.L468P	LMNB2_uc002lwa.1_Missense_Mutation_p.L488P	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	468	Tail.					nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGTTCTTGAGCTGCACAAA	0.662													G	2433843	A	G	2433843	3	3	75	1	0	0	0	0	1	0	0	0	8850	304	11	3	419	3	LMNB2	19	2433843	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	242766	2433843	56695140	1159	53370											
SLC39A3	29985	broad.mit.edu	37	chr19	2733111	2733111	+	Frame_Shift_Del	DEL	C	C	-													gaacaggctcaccactttctCcccctcctcctgcaggccca							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:2733110_2733110TC>T	uc010xgy.1	-	2	838	c.584_584GA>A	c.(583-585)gagfs	p.E195fs	SLC39A3_uc002lwg.3_Frame_Shift_Del_p.E195fs	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 3 (SLC39A3), transcript variant 1, mRNA.	195						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCACTTTCTCCCCCTCCTC	0.716													-	2733111	C	-	2733111	7	5	75	1	0	1	0	1	0	0	0	0	14619	864	30	0	365	0	SLC39A3	19	2733111	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	299268	2733111	56395872	1160	53371											
THOP1	7064	broad.mit.edu	37	chr19	2807510	2807510	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctggagctgaagcgtgcGgagtgcgagcgccggggcct	18	10	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:2807510G>A	uc002lwj.2	+	8	1112	c.957G>A	c.(955-957)GCG>GCA	p.A319A	THOP1_uc010xgz.1_Silent_p.A198A|THOP1_uc002lwk.2_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	319					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAGCGTGCGGAGTGCGAGC	0.672													A	2807510	G	A	2807510	2	1	75	1	0	0	0	0	0	0	0	1	15868	1103	39	1		1	THOP1	19	2807510	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	74399	2807510	56321473	1161	53372											
EEF2	1938	broad.mit.edu	37	chr19	3977228	3977228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccaaaggactcgttgaCgggcagataggccttgacca	11	12	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:3977228C>T	uc002lze.2	-	14	2451	c.2368G>A	c.(2368-2370)GTC>ATC	p.V790I		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	790						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GACTCGTTGACGGGCAGATAG	0.602													T	3977228	C	T	3977228	3	4	75	1	0	0	0	0	1	0	0	0	4929	536	19	1	216	1	EEF2	19	3977228	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1169718	3977228	55151755	1162	53373											
EEF2	1938	broad.mit.edu	37	chr19	3978014	3978014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttgagctcctgacgggCggacacctcgcctttatcga	11	14	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:3978014C>T	uc002lze.2	-	12	1953	c.1870G>A	c.(1870-1872)GCC>ACC	p.A624T		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	624						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTGACGGGCGGACACCTCG	0.662													T	3978014	C	T	3978014	3	4	75	1	0	0	0	0	1	0	0	0	4929	768	27	1	722	1	EEF2	19	3978014	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	786	3978014	55150969	1163	53374											
SEMA6B	10501	broad.mit.edu	37	chr19	4552597	4552597	+	Frame_Shift_Del	DEL	G	G	-													ccactgcttctccagcacgcGgggggagcctcccacgtcgt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:4552596_4552596CG>C	uc010dud.2	-	9	1089	c.827_827CG>G	c.(826-828)cgcfs	p.R276fs	SEMA6B_uc010xih.1_Frame_Shift_Del_p.R276fs	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	276	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAGCACGCGGGGGGAGCC	0.647													-	4552597	G	-	4552597	7	5	75	1	0	1	0	1	0	0	0	0	14040	1116	39	0	1872	0	SEMA6B	19	4552597	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	574583	4552597	54576386	1164	53375											
PTPRS	5802	broad.mit.edu	37	chr19	5231528	5231528	+	Frame_Shift_Del	DEL	C	C	-													gacgctgtagcccaccagggCcccgttgtgcgtttccggcg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:5231527_5231527GC>G	uc002mbv.3	-	13	2183	c.1949_1949GC>C	c.(1948-1950)gccfs	p.A650fs	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.2_Intron|PTPRS_uc002mbw.3_Frame_Shift_Del_p.A637fs|PTPRS_uc002mbx.3_Intron|PTPRS_uc002mby.3_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	650	Fibronectin type-III 4.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCCCACCAGGGCCCCGTTGTG	0.657													-	5231528	C	-	5231528	7	5	75	1	0	1	0	1	0	0	0	0	12811	739	26	0	3998	0	PTPRS	19	5231528	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	678931	5231528	53897455	1165	53376											
SAFB2	9667	broad.mit.edu	37	chr19	5587293	5587293	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggggtacggggggggatgAgggtgtgggtgagggactct	25	3	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:5587293A>G	uc002mcd.2	-	21	3035	c.2823T>C	c.(2821-2823)CCT>CCC	p.P941P		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	941	Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		gggggggatgagggtgtgggt	0.517													G	5587293	A	G	5587293	2	3	75	1	0	0	0	0	0	0	0	1	13807	291	11	3		3	SAFB2	19	5587293	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	355765	5587293	53541690	1166	53377											
TMEM146	257062	broad.mit.edu	37	chr19	5778543	5778543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgctacgcacagcacgCggccgcaggatcaagaagtg	13	12	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:5778543C>T	uc002mda.2	+	22	2314	c.2253C>T	c.(2251-2253)CGC>CGT	p.R751R		NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	751	Cytoplasmic (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						GCACAGCACGCGGCCGCAGGA	0.612													T	5778543	C	T	5778543	2	4	75	1	0	0	0	0	0	0	0	1	16057	755	27	1		1	TMEM146	19	5778543	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	191250	5778543	53350440	1167	53378											
C3	718	broad.mit.edu	37	chr19	6712378	6712378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctggactgccacggggaCtcggtaggctggagagccat	16	12	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:6712378C>T	uc002mfm.2	-	11	1221	c.1159G>A	c.(1159-1161)GTC>ATC	p.V387I		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	387					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCCACGGGGACTCGGTAGGCT	0.627													T	6712378	C	T	6712378	3	4	75	1	0	0	0	0	1	0	0	0	2204	565	20	4	3956	4	C3	19	6712378	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	933835	6712378	52416605	1168	53379											
C3	718	broad.mit.edu	37	chr19	6719344	6719344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactggaacatccccttgcgCgtcgtgggcctccagcacca	11	16	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:6719344C>T	uc002mfm.2	-	2	207	c.145G>A	c.(145-147)GCG>ACG	p.A49T		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	49					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCCCCTTGCGCGTCGTGGGCC	0.587													T	6719344	C	T	6719344	3	4	75	1	0	0	0	0	1	0	0	0	2204	768	27	1	5006	1	C3	19	6719344	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	6966	6719344	52409639	1169	53380											
INSR	3643	broad.mit.edu	37	chr19	7117116	7117116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatccgcccgtttttcttgCctccgttcatgtgtgtgtaa	9	11	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:7117116C>T	uc002mgd.1	-	22	4209	c.4100G>A	c.(4099-4101)GGC>GAC	p.G1367D	INSR_uc002mge.1_Missense_Mutation_p.G1355D	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	1367	Cytoplasmic (Potential).				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTTTTTCTTGCCTCCGTTCAT	0.607													T	7117116	C	T	7117116	3	4	75	1	0	0	0	0	1	0	0	0	7773	739	26	2	52	2	INSR	19	7117116	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	397772	7117116	52011867	1170	53381											
ZNF177	7730	broad.mit.edu	37	chr19	9489757	9489757	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaactttaggaacctggcCtcagtaggtaaggctggcct	13	9	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:9489757C>A	uc002mli.2	+	9	816	c.153C>A	c.(151-153)GCC>GCA	p.A51A	ZNF177_uc002mlj.2_5'UTR|ZNF177_uc002mlk.2_Silent_p.A51A	NM_003451	NP_003442	Q13360	ZN177_HUMAN	zinc finger protein 177	51	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GGAACCTGGCCTCAGTAGGTA	0.313													A	9489757	C	A	9489757	2	1	75	1	0	0	0	0	0	0	0	1	17743	668	24	5		5	ZNF177	19	9489757	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2372641	9489757	49639226	1171	53382											
ZNF266	10781	broad.mit.edu	37	chr19	9529198	9529198	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctactgtggccaaattcTtgtagttctccagcatcaca	6	12	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:9529198T>G	uc002mll.2	-	1	283	c.17A>C	c.(16-18)AAG>ACG	p.K6T	ZNF266_uc002mlm.2_Missense_Mutation_p.K6T|ZNF266_uc002mln.2_Missense_Mutation_p.K6T|ZNF266_uc002mlo.2_Missense_Mutation_p.K6T|ZNF266_uc010dwp.2_Missense_Mutation_p.K6T|ZNF266_uc010dwq.2_Missense_Mutation_p.K6T	NM_198058	NP_932175	Q14584	ZN266_HUMAN	zinc finger protein 266	6	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GGCCAAATTCTTGTAGTTCTC	0.438													G	9529198	T	G	9529198	3	3	75	1	0	0	0	0	1	0	0	0	17802	1609	56	5	1648	5	ZNF266	19	9529198	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	39441	9529198	49599785	1172	53383											
KRI1	65095	broad.mit.edu	37	chr19	10664802	10664802	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggccctcctccgcttctggGgggctggcttcttgtggggt	16	12	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:10664802G>T	uc002moy.1	-	19	1964	c.1955C>A	c.(1954-1956)CCC>CAC	p.P652H	KRI1_uc002mow.1_Missense_Mutation_p.P271H|KRI1_uc002mox.1_Missense_Mutation_p.P648H	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	652										ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCGCTTCTGGGGGGCTGGCTT	0.647													T	10664802	G	T	10664802	3	4	75	1	0	0	0	0	1	0	0	0	8444	1232	43	5	178	5	KRI1	19	10664802	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1135604	10664802	48464181	1173	53384											
ILF3	3609	broad.mit.edu	37	chr19	10782043	10782043	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgtccctcagggaacagaaGacggagcacatgaccagaac	11	12	1	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:10782043G>A	uc002mpn.2	+	4	560	c.243G>A	c.(241-243)AAG>AAA	p.K81K	ILF3_uc002mpm.2_Silent_p.K81K|ILF3_uc002mpl.2_Silent_p.K81K|ILF3_uc002mpk.2_Silent_p.K81K|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Silent_p.K81K	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	81					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GGGAACAGAAGACGGAGCACA	0.582													A	10782043	G	A	10782043	2	1	75	1	0	0	0	0	0	0	0	1	7712	933	33	4		4	ILF3	19	10782043	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	117241	10782043	48346940	1174	53385											
SMARCA4	6597	broad.mit.edu	37	chr19	11121099	11121099	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgaatatggcgtgtcccaGgcccttgcacgtggcctgca	13	12	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:11121099G>T	uc002mqf.3	+	15	2450	c.2166G>T	c.(2164-2166)CAG>CAT	p.Q722H	SMARCA4_uc010dxp.2_Missense_Mutation_p.Q722H|SMARCA4_uc010dxo.2_Missense_Mutation_p.Q722H|SMARCA4_uc002mqg.1_Missense_Mutation_p.Q722H|SMARCA4_uc010dxq.2_Missense_Mutation_p.Q722H|SMARCA4_uc010dxr.2_Missense_Mutation_p.Q722H|SMARCA4_uc002mqj.3_Missense_Mutation_p.Q722H|SMARCA4_uc010dxs.2_Missense_Mutation_p.Q722H|SMARCA4_uc010dxt.1_5'Flank	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	722					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCGTGTCCCAGGCCCTTGCAC	0.542			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				T	11121099	G	T	11121099	3	4	75	1	0	0	0	0	1	0	0	0	14770	991	35	5	2220	5	SMARCA4	19	11121099	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	339056	11121099	48007884	1175	53386											
SMARCA4	6597	broad.mit.edu	37	chr19	11123693	11123693	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcatcctggccgacgagatGggcctggggaagaccatcca	15	12	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:11123693G>T	uc002mqf.3	+	16	2627	c.2343G>T	c.(2341-2343)ATG>ATT	p.M781I	SMARCA4_uc010dxp.2_Missense_Mutation_p.M781I|SMARCA4_uc010dxo.2_Missense_Mutation_p.M781I|SMARCA4_uc002mqg.1_Missense_Mutation_p.M781I|SMARCA4_uc010dxq.2_Missense_Mutation_p.M781I|SMARCA4_uc010dxr.2_Missense_Mutation_p.M781I|SMARCA4_uc002mqj.3_Missense_Mutation_p.M781I|SMARCA4_uc010dxs.2_Missense_Mutation_p.M781I|SMARCA4_uc010dxt.1_Missense_Mutation_p.M1I	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	781	Helicase ATP-binding.|ATP (Potential).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGACGAGATGGGCCTGGGGA	0.577			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				T	11123693	G	T	11123693	3	4	75	1	0	0	0	0	1	0	0	0	14770	1348	47	5	2401	5	SMARCA4	19	11123693	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2594	11123693	48005290	1176	53387											
ZNF653	115950	broad.mit.edu	37	chr19	11606948	11606948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcgtaccagatcaccaCgttcttcaggcagttcacgt	8	14	4	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:11606948C>T	uc002mrz.1	-	3	429	c.376G>A	c.(376-378)GTG>ATG	p.V126M		NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	zinc finger protein 653	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CAGATCACCACGTTCTTCAGG	0.627													T	11606948	C	T	11606948	3	4	75	1	0	0	0	0	1	0	0	0	18063	536	19	1	1499	1	ZNF653	19	11606948	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	483255	11606948	47522035	1177	53388											
TNPO2	30000	broad.mit.edu	37	chr19	12817467	12817467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggcttgaggtgcatgtcGggtggctggctgaccaccca	17	10	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:12817467G>A	uc002muo.2	-	13	1598	c.1413C>T	c.(1411-1413)CCC>CCT	p.P471P	TNPO2_uc002mup.2_Silent_p.P563P|TNPO2_uc002muq.2_Silent_p.P471P|TNPO2_uc002mur.2_Silent_p.P471P|SNORD41_uc002mut.1_5'Flank	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	471					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						GGTGCATGTCGGGTGGCTGGC	0.632													A	12817467	G	A	12817467	2	1	75	1	0	0	0	0	0	0	0	1	16333	1103	39	1		1	TNPO2	19	12817467	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1210519	12817467	46311516	1178	53389											
CACNA1A	773	broad.mit.edu	37	chr19	13419248	13419248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttgtgactttgaaaataCgcaataacctgagggctcgt	9	8	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:13419248C>T	uc010dze.2	-	13	2002	c.1766G>A	c.(1765-1767)CGT>CAT	p.R589H	CACNA1A_uc010dzc.2_Missense_Mutation_p.R114H|CACNA1A_uc002mwy.3_Missense_Mutation_p.R588H|CACNA1A_uc010xne.1_Missense_Mutation_p.R114H	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	589	Helical; Name=S4 of repeat II; (Potential).|II.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTTGAAAATACGCAATAACCT	0.507													T	13419248	C	T	13419248	3	4	75	1	0	0	0	0	1	0	0	0	2538	536	19	1	6008	1	CACNA1A	19	13419248	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	601781	13419248	45709735	1179	53390											
CC2D1A	54862	broad.mit.edu	37	chr19	14034594	14034594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccccacgcccaccgcccGctttgagcaaaggaccttca	7	19	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:14034594G>A	uc002mxo.2	+	17	2209	c.1910G>A	c.(1909-1911)CGC>CAC	p.R637H	CC2D1A_uc002mxp.2_Missense_Mutation_p.R637H|CC2D1A_uc010dzh.2_Missense_Mutation_p.R206H|CC2D1A_uc002mxq.1_Missense_Mutation_p.R282H	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	637					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCCACCGCCCGCTTTGAGCAA	0.627													A	14034594	G	A	14034594	3	1	75	1	0	0	0	0	1	0	0	0	2726	1087	38	1	1976	1	CC2D1A	19	14034594	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	615346	14034594	45094389	1180	53391											
PODNL1	79883	broad.mit.edu	37	chr19	14046600	14046600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggttggcagccagatccGcgacacggagggaccggggc	17	12	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:14046600G>A	uc002mxr.2	-	5	723	c.449C>T	c.(448-450)GCG>GTG	p.A150V	PODNL1_uc010xni.1_Missense_Mutation_p.A68V|PODNL1_uc010xnj.1_Missense_Mutation_p.A148V|PODNL1_uc002mxs.2_Intron	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	podocan-like 1 isoform 1	150	Leu-rich.|LRR 4.					proteinaceous extracellular matrix				central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			AGCCAGATCCGCGACACGGAG	0.667													A	14046600	G	A	14046600	3	1	75	1	0	0	0	0	1	0	0	0	12179	1087	38	1	1105	1	PODNL1	19	14046600	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	12006	14046600	45082383	1181	53392											
CYP4F3	4051	broad.mit.edu	37	chr19	15760019	15760019	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtgcccgtctggacatgtTtgagcacatcagcctcatga	10	11	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:15760019T>C	uc002nbj.2	+	6	625	c.575T>C	c.(574-576)TTT>TCT	p.F192S	CYP4F3_uc010xok.1_Missense_Mutation_p.F192S|CYP4F3_uc010xol.1_Missense_Mutation_p.F192S|CYP4F3_uc010xom.1_Missense_Mutation_p.F43S|CYP4F3_uc002nbk.2_Missense_Mutation_p.F192S|CYP4F3_uc010xon.1_5'Flank	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	192					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3						CTGGACATGTTTGAGCACATC	0.572													C	15760019	T	C	15760019	3	2	75	1	0	0	0	0	1	0	0	0	4190	1841	64	3	593	3	CYP4F3	19	15760019	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1713419	15760019	43368964	1182	53393											
CYP4F11	57834	broad.mit.edu	37	chr19	16040318	16040318	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggtggcataaaatgaggaGggggaaggtaggacccagcc	18	6	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:16040318G>T	uc002nbu.2	-	3	328	c.292C>A	c.(292-294)CTC>ATC	p.L98I	CYP4F11_uc010eab.1_Missense_Mutation_p.L98I|CYP4F11_uc002nbt.2_Missense_Mutation_p.L98I	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	98					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1						AAAATGAGGAGGGGGAAGGTA	0.552													T	16040318	G	T	16040318	3	4	75	1	0	0	0	0	1	0	0	0	4186	1000	35	5	1326	5	CYP4F11	19	16040318	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	280299	16040318	43088665	1183	53394											
TMEM38A	79041	broad.mit.edu	37	chr19	16791226	16791226	+	Frame_Shift_Del	DEL	C	C	-													aggtacttgattttcttctgCcccctggacctcttctacaa							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:16791225_16791225GC>G	uc002nes.3	+	2	390	c.299_299GC>G	c.(298-300)tgcfs	p.C100fs		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	100						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						ATTTTCTTCTGCCCCCTGGAC	0.552													-	16791226	C	-	16791226	7	5	75	1	0	1	0	1	0	0	0	0	16156	747	26	0	310	0	TMEM38A	19	16791226	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	750908	16791226	42337757	1184	53395											
SIN3B	23309	broad.mit.edu	37	chr19	16986971	16986971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtcctcccgctgcgtcCgcgctgctagggagaccagc	12	17	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:16986971C>T	uc002ney.1	+	16	2808	c.2794C>T	c.(2794-2796)CGC>TGC	p.R932C	SIN3B_uc002nez.1_Missense_Mutation_p.R900C|SIN3B_uc010xpi.1_Missense_Mutation_p.R490C|SIN3B_uc010eaj.1_5'Flank	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	932					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						CCGCTGCGTCCGCGCTGCTAG	0.647													T	16986971	C	T	16986971	3	4	75	1	0	0	0	0	1	0	0	0	14326	652	23	1	2856	1	SIN3B	19	16986971	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	195745	16986971	42142012	1185	53396											
MYO9B	4650	broad.mit.edu	37	chr19	17322706	17322706	+	Splice_Site	DEL	C	C	-													ccatctgtctctcaaaagggCcccctgcgcctgctctccct							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:17322705_17322705GC>G	uc010eak.3	+	40	6211	c.6059_splice	c.e40-1	p.G2020_splice	MYO9B_uc002nfi.3_Splice_Site|MYO9B_uc002nfm.1_3'UTR	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	2020	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TCTCAAAAGGGCCCCCTGCGC	0.706													-	17322706	C	-	17322706	8	5	75	1	0	1	0	1	0	0	1	0	10085	739	26	0	6226	0	MYO9B	19	17322706	Splice_Site	DEL	C	TCGA-BR-8363-01A-11D-2340-08	335735	17322706	41806277	1186	53397											
ANKLE1	126549	broad.mit.edu	37	chr19	17394149	17394149	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgacccaggaccccccagCctccctgttccccttgaaac	7	20	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:17394149C>A	uc002nga.2	+	5	852	c.576C>A	c.(574-576)AGC>AGA	p.S192R	ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Missense_Mutation_p.S214R|ANKLE1_uc010xpn.1_Missense_Mutation_p.S246R|ANKLE1_uc002nfy.2_Missense_Mutation_p.S181R|ANKLE1_uc002nfz.2_5'UTR	NM_152363	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat domain 41	192						nuclear envelope					0						GACCCCCCAGCCTCCCTGTTC	0.592													A	17394149	C	A	17394149	3	1	75	1	0	0	0	0	1	0	0	0	632	738	26	5	594	5	ANKLE1	19	17394149	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	71443	17394149	41734834	1187	53398											
PLVAP	83483	broad.mit.edu	37	chr19	17488051	17488051	+	Frame_Shift_Del	DEL	C	C	-													accagcagccccgagagctgCcccccgcccgagcgtaggac							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:17488050_17488050GC>G	uc002ngk.1	-	0	88	c.48_48GC>C	c.(46-48)ggcfs	p.G16fs		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	16						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCGAGAGCTGCCCCCCGCCC	0.627													-	17488051	C	-	17488051	7	5	75	1	0	1	0	1	0	0	0	0	12116	739	26	0	1305	0	PLVAP	19	17488051	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	93902	17488051	41640932	1188	53399											
MAP1S	55201	broad.mit.edu	37	chr19	17838610	17838610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcccctggcccccggtgCggcagactcagacgaagaca	13	16	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:17838610C>T	uc002nhe.1	+	5	2426	c.2417C>T	c.(2416-2418)GCG>GTG	p.A806V	MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Missense_Mutation_p.A54V|MAP1S_uc010xpv.1_Missense_Mutation_p.A780V	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	806	Pro-rich.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for association with microtubules.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						GCCCCCGGTGCGGCAGACTCA	0.692													T	17838610	C	T	17838610	3	4	75	1	0	0	0	0	1	0	0	0	9234	768	27	1	2435	1	MAP1S	19	17838610	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	350559	17838610	41290373	1189	53400											
GDF15	9518	broad.mit.edu	37	chr19	18499232	18499232	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggtcgtgggacgtgacAcgaccgctgcggcgtcagct	15	12	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:18499232A>C	uc002niv.2	+	2	446	c.414A>C	c.(412-414)ACA>ACC	p.T138T		NM_004864	NP_004855	Q99988	GDF15_HUMAN	growth differentiation factor 15	138					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)	1						GGGACGTGACACGACCGCTGC	0.726											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	18499232	A	C	18499232	2	2	75	1	0	0	0	0	0	0	0	1	6313	146	6	5		5	GDF15	19	18499232	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	660622	18499232	40629751	1190	53401											
ISYNA1	51477	broad.mit.edu	37	chr19	18547690	18547690	+	Splice_Site	DEL	G	G	-													gcgacgagatgtcccagcctGgggggaccctcacactcggc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:18547689_18547689TG>T	uc002njd.2	-	5	634	c.416_splice	c.e5-1	p.G139_splice	ISYNA1_uc002nja.2_Splice_Site_p.G11_splice|ISYNA1_uc002njb.2_5'UTR|ISYNA1_uc002njc.2_Splice_Site|ISYNA1_uc010xqh.2_Intron|ISYNA1_uc002nje.2_Splice_Site_p.G85_splice	NM_016368	NP_001164410	Q9NPH2	INO1_HUMAN	Homo sapiens inositol-3-phosphate synthase 1 (ISYNA1), transcript variant 1, mRNA.	139					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TGTCCCAGCCTGGGGGGACCC	0.721													-	18547690	G	-	18547690	8	5	75	1	0	1	0	1	0	0	1	0	7867	1363	47	0		0	ISYNA1	19	18547690	Splice_Site	DEL	G	TCGA-BR-8363-01A-11D-2340-08	48458	18547690	40581293	1191	53402											
COMP	1311	broad.mit.edu	37	chr19	18900795	18900795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgttgcccgtgaagcccgCggggcaggggccgcagcgcg	19	15	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:18900795C>T	uc002nke.2	-	4	382	c.346G>A	c.(346-348)GCG>ACG	p.A116T	COMP_uc002nkd.2_Missense_Mutation_p.A83T|COMP_uc010xqj.1_Missense_Mutation_p.A116T	NM_000095	NP_000086	P49747	COMP_HUMAN	cartilage oligomeric matrix protein precursor	116	EGF-like 1.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding				0						GTGAAGCCCGCGGGGCAGGGG	0.736													T	18900795	C	T	18900795	3	4	75	1	0	0	0	0	1	0	0	0	3724	768	27	1	1991	1	COMP	19	18900795	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	353105	18900795	40228188	1192	53403											
HAPLN4	404037	broad.mit.edu	37	chr19	19369444	19369444	+	Frame_Shift_Del	DEL	C	C	-													ccgccccctgcactcccggtCccccccaggccgccgcaggg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:19369443_19369443TC>T	uc002nmb.3	-	3	816	c.706_706GA>A	c.(706-708)accfs	p.T236fs	HAPLN4_uc002nmc.3_Frame_Shift_Del_p.T236fs	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 4 (HAPLN4), mRNA.	236	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.G235E(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			GCACTCCCGGTCCCCCCCAGG	0.711													-	19369444	C	-	19369444	7	5	75	1	0	1	0	1	0	0	0	0	6957	842	30	0	511	0	HAPLN4	19	19369444	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	468649	19369444	39759539	1193	53404											
ZNF93	81931	broad.mit.edu	37	chr19	20045515	20045515	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaccctttcttcacataAgaaaatccattctggagaga	6	10	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:20045515A>C	uc002non.2	+	4	1862	c.1751A>C	c.(1750-1752)AAG>ACG	p.K584T		NM_031218	NP_112495	P35789	ZNF93_HUMAN	zinc finger protein 93	584	C2H2-type 16.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1						TCTTCACATAAGAAAATCCAT	0.383													C	20045515	A	C	20045515	3	2	75	1	0	0	0	0	1	0	0	0	18199	72	3	5	1765	5	ZNF93	19	20045515	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	676071	20045515	39083468	1194	53405											
ZNF430	80264	broad.mit.edu	37	chr19	21216290	21216290	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacatttagggatgtggccaTagaattttctctggaggagt	13	5	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:21216290T>A	uc002npj.2	+	3	235	c.125T>A	c.(124-126)ATA>AAA	p.I42K	ZNF430_uc002npk.2_Missense_Mutation_p.I42K	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2						GATGTGGCCATAGAATTTTCT	0.428													A	21216290	T	A	21216290	3	1	75	1	0	0	0	0	1	0	0	0	17901	1406	49	5	135	5	ZNF430	19	21216290	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1170775	21216290	37912693	1195	53406											
ZNF43	7594	broad.mit.edu	37	chr19	22002026	22002026	+	Splice_Site	DEL	A	A	-													cataaatgtcaatggtccctAaaaaaaacaacacatacaca							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383													-	22002026	A	-	22002026	8	5	75	1	0	1	0	1	0	0	1	0	17900	377	13	0		0	ZNF43	19	22002026	Splice_Site	DEL	A	TCGA-BR-8363-01A-11D-2340-08	785736	22002026	37126957	1196	53407											
ZNF676	163223	broad.mit.edu	37	chr19	22362819	22362819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgacttaaaagctttgCcacattcttcacatttgtag	7	8	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:22362819C>T	uc002nqs.1	-	3	2018	c.1700G>A	c.(1699-1701)GGC>GAC	p.G567D		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	567	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAAAGCTTTGCCACATTCTTC	0.378													T	22362819	C	T	22362819	3	4	75	1	0	0	0	0	1	0	0	0	18080	739	26	2	70	2	ZNF676	19	22362819	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	360793	22362819	36766164	1197	53408											
CCDC123	84902	broad.mit.edu	37	chr19	33370222	33370222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtgtcctggagaagttctCggattcttcggttttccctg	12	9	2	1	rs141423846		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:33370222C>T	uc002nty.2	-	19	2287	c.2198G>A	c.(2197-2199)CGA>CAA	p.R733Q	CCDC123_uc002ntx.2_Missense_Mutation_p.R486Q|CCDC123_uc010edg.2_RNA	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	coiled-coil domain containing 123	733						centrosome|spindle pole					0	Esophageal squamous(110;0.137)					GAGAAGTTCTCGGATTCTTCG	0.483													T	33370222	C	T	33370222	3	4	75	1	0	0	0	0	1	0	0	0	2759	884	31	1	157	1	CCDC123	19	33370222	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	11007403	33370222	25758761	1198	53409											
KCTD15	79047	broad.mit.edu	37	chr19	34302406	34302406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggaaccaggaccccacGcacgtcatccgcttcccgct	10	18	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:34302406G>A	uc002nuy.3	+	6	910	c.642G>A	c.(640-642)ACG>ACA	p.T214T	KCTD15_uc002nuv.2_Silent_p.T214T|KCTD15_uc002nuw.3_Silent_p.T214T|KCTD15_uc010xrt.1_Silent_p.T214T|KCTD15_uc002nux.3_Silent_p.T214T	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	214						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)					AGGACCCCACGCACGTCATCC	0.687													A	34302406	G	A	34302406	2	1	75	1	0	0	0	0	0	0	0	1	8102	1074	38	1		1	KCTD15	19	34302406	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	932184	34302406	24826577	1199	53410											
MAG	4099	broad.mit.edu	37	chr19	35791193	35791193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctccgggaggcggtggccGagagcctgctcctggagctg	17	13	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:35791193G>A	uc002nyy.1	+	6	1005	c.856G>A	c.(856-858)GAG>AAG	p.E286K	MAG_uc002nyx.1_Missense_Mutation_p.E286K|MAG_uc010eds.1_Missense_Mutation_p.E261K|MAG_uc002nyz.1_Missense_Mutation_p.E286K	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	286	Ig-like C2-type 2.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGCGGTGGCCGAGAGCCTGCT	0.701													A	35791193	G	A	35791193	3	1	75	1	0	0	0	0	1	0	0	0	9162	1059	37	1	870	1	MAG	19	35791193	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1488787	35791193	23337790	1200	53411											
ETV2	2116	broad.mit.edu	37	chr19	36134636	36134636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgccagtttggctcgatgCcccaaaactaaccaccgagg	10	14	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:36134636C>T	uc002oas.2	+	4	1219	c.780C>T	c.(778-780)TGC>TGT	p.C260C	ETV2_uc002oar.2_Silent_p.C232C|ETV2_uc002oat.2_Silent_p.C139C|ETV2_uc002oau.2_Intron	NM_014209	NP_055024	O00321	ETV2_HUMAN	ets variant gene 2	231							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGCTCGATGCCCCAAAACTA	0.657													T	36134636	C	T	36134636	2	4	75	1	0	0	0	0	0	0	0	1	5278	747	26	2		2	ETV2	19	36134636	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	343443	36134636	22994347	1201	53412											
ZNF585A	199704	broad.mit.edu	37	chr19	37644345	37644345	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatagagcttttctcctgcAagaactttcaggtgtacttt	7	9	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:37644345A>G	uc002ofo.1	-	5	687	c.456T>C	c.(454-456)CTT>CTC	p.L152L	ZNF585A_uc002ofm.1_Silent_p.L97L|ZNF585A_uc002ofn.1_Silent_p.L97L	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTCTCCTGCAAGAACTTTCA	0.393													G	37644345	A	G	37644345	2	3	75	1	0	0	0	0	0	0	0	1	18014	117	5	3		3	ZNF585A	19	37644345	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1509709	37644345	21484638	1202	53413											
ZNF570	148268	broad.mit.edu	37	chr19	37975122	37975123	+	Frame_Shift_Ins	INS	-	-	A													cacacaaaagagaagctttaINSaaaaaaatttaatggctatt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:37975121_37975122T>TA	uc010efl.1	+	5	884_885	c.765_766T>TA	c.(763-768)tttaaafs	p.F255fs	ZNF570_uc002ogk.1_Frame_Shift_Ins_p.F199fs|ZNF570_uc010xtr.1_5'UTR	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAGAAGCTTTAAAAAAAATTT	0.366													A	37975123	-	A	37975122	7	5	75	1	0	1	1	0	0	0	0	0	17999	363	13	0	612	0	ZNF570	19	37975122	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	330777	37975122	21153861	1203	53414											
NFKBIB	4793	broad.mit.edu	37	chr19	39398282	39398282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagcagcagtagcgacagcGacagcggagacgagggcgtg	18	10	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:39398282G>A	uc002ojw.2	+	5	1010	c.952G>A	c.(952-954)GAC>AAC	p.D318N	NFKBIB_uc002ojx.2_Missense_Mutation_p.D286N|NFKBIB_uc002ojy.2_Missense_Mutation_p.D318N	NM_002503	NP_002494	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene	318					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			lung(1)|kidney(1)	2	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TAGCGACAGCGACAGCGGAGA	0.662													A	39398282	G	A	39398282	3	1	75	1	0	0	0	0	1	0	0	0	10378	1058	37	1	970	1	NFKBIB	19	39398282	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1423160	39398282	19730701	1204	53415											
SAMD4B	55095	broad.mit.edu	37	chr19	39860427	39860427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctactgcagaaagtgctggCctactcaatcgagagcaatg	11	10	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:39860427C>T	uc002olb.2	+	6	1364	c.329C>T	c.(328-330)GCC>GTC	p.A110V	SAMD4B_uc002ola.2_Missense_Mutation_p.A110V	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	110							protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AAAGTGCTGGCCTACTCAATC	0.582													T	39860427	C	T	39860427	3	4	75	1	0	0	0	0	1	0	0	0	13822	739	26	2	335	2	SAMD4B	19	39860427	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	462145	39860427	19268556	1205	53416											
SUPT5H	6829	broad.mit.edu	37	chr19	39961097	39961097	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggccagcatgaatggggCgagctggtgcagctggatcc	19	9	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:39961097C>T	uc002olo.3	+	18	1790	c.1611C>T	c.(1609-1611)GGC>GGT	p.G537G	SUPT5H_uc002olp.3_Silent_p.G537G|SUPT5H_uc002olq.3_Silent_p.G533G|SUPT5H_uc002oln.3_Silent_p.G537G|SUPT5H_uc002olr.3_Silent_p.G537G|SUPT5H_uc002ols.1_Silent_p.G160G|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	537					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATGAATGGGGCGAGCTGGTGC	0.612													T	39961097	C	T	39961097	2	4	75	1	0	0	0	0	0	0	0	1	15396	755	27	1		1	SUPT5H	19	39961097	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	100670	39961097	19167886	1206	53417											
FCGBP	8857	broad.mit.edu	37	chr19	40363285	40363285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacagcctcgccgtccaCggtgacctgggtggaagggt	16	13	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:40363285C>T	uc002omp.3	-	32	14793	c.14785G>A	c.(14785-14787)GTG>ATG	p.V4929M		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4929	VWFD 12.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGCCGTCCACGGTGACCTGG	0.667													T	40363285	C	T	40363285	3	4	75	1	0	0	0	0	1	0	0	0	5778	536	19	1	1452	1	FCGBP	19	40363285	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	402188	40363285	18765698	1207	53418											
PRX	57716	broad.mit.edu	37	chr19	40900062	40900062	+	Frame_Shift_Del	DEL	G	G	-													ttctctctgacgggggacttGggggctgcatcgccctcctg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:40900061_40900061TG>T	uc002onr.3	-	6	4467	c.4198_4198CA>A	c.(4198-4200)aagfs	p.K1400fs	PRX_uc002onq.3_Frame_Shift_Del_p.K1261fs|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1400					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACGGGGGACTTGGGGGCTGCA	0.692													-	40900062	G	-	40900062	7	5	75	1	0	1	0	1	0	0	0	0	12642	1335	47	0	192	0	PRX	19	40900062	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	536777	40900062	18228921	1208	53419											
SERTAD1	29950	broad.mit.edu	37	chr19	40929414	40929414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccagaggttccttctcctCctcctcctcccgtttccgct	6	19	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:40929414C>T	uc002ont.3	-	2	199	c.40G>A	c.(40-42)GAG>AAG	p.E14K		NM_013376	NP_037508	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	14					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCTTCTCCTCCTCCTCCTCC	0.443													T	40929414	C	T	40929414	3	4	75	1	0	0	0	0	1	0	0	0	14120	864	30	4	674	4	SERTAD1	19	40929414	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	29352	40929414	18199569	1209	53420											
CEACAM3	1084	broad.mit.edu	37	chr19	42301697	42301697	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggcaacagtctaattgtaGgatatgtaataggaactcaa	9	5	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:42301697G>T	uc002orn.1	+	2	317	c.241G>T	c.(241-243)GGA>TGA	p.G81*	CEACAM3_uc010eia.1_Nonsense_Mutation_p.G81*|CEACAM3_uc002oro.1_RNA	NM_001815	NP_001806	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion	81	Ig-like V-type.|Extracellular (Potential).					integral to membrane				skin(1)	1						TCTAATTGTAGGATATGTAAT	0.498													T	42301697	G	T	42301697	4	4	75	1	0	0	0	0	0	1	0	0	3193	1001	35	5	247	5	CEACAM3	19	42301697	Nonsense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1372283	42301697	16827286	1210	53421											
LIPE	3991	broad.mit.edu	37	chr19	42911534	42911534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgcactatcagggaccgCgagcggggtgcctgctgggg	18	10	1	0	rs150537286	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:42911534C>T	uc002otr.2	-	6	2206	c.1929G>A	c.(1927-1929)TCG>TCA	p.S643S	uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	643					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				TCAGGGACCGCGAGCGGGGTG	0.677													T	42911534	C	T	42911534	2	4	75	1	0	0	0	0	0	0	0	1	8821	755	27	1		1	LIPE	19	42911534	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	609837	42911534	16217449	1211	53422											
PLAUR	5329	broad.mit.edu	37	chr19	44174241	44174241	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacgcaggtgtggagcagcAgcagcagcggcagcagcggc	19	11	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:44174241A>G	uc002oxf.1	-	1	262	c.32T>C	c.(31-33)CTG>CCG	p.L11P	PLAUR_uc002oxd.1_Missense_Mutation_p.L11P|PLAUR_uc002oxe.1_5'Flank|PLAUR_uc002oxg.1_Missense_Mutation_p.L11P	NM_002659	NP_002650	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	11					attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			ovary(1)	1		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	GTGGagcagcagcagcagcgg	0.562													G	44174241	A	G	44174241	3	3	75	1	0	0	0	0	1	0	0	0	12023	188	7	3	1099	3	PLAUR	19	44174241	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1262707	44174241	14954742	1212	53423											
ZNF235	9310	broad.mit.edu	37	chr19	44791754	44791754	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgggcttgaaggtgtgAggcctgactgaatcgcttct	14	8	1	5			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:44791754A>G	uc002oza.3	-	5	1937	c.1834T>C	c.(1834-1836)TCA>CCA	p.S612P	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.S608P|ZNF235_uc010xwx.1_Missense_Mutation_p.S526P	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	612	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)				TGAAGGTGTGAGGCCTGACTG	0.488													G	44791754	A	G	44791754	3	3	75	1	0	0	0	0	1	0	0	0	17785	304	11	3	386	3	ZNF235	19	44791754	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	617513	44791754	14337229	1213	53424											
MARK4	57787	broad.mit.edu	37	chr19	45805809	45805809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgctggcctgcctgcaCgggggtgcgggcgggcccga	18	14	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:45805809C>T	uc002pbb.1	+	17	2105	c.2100C>T	c.(2098-2100)CAC>CAT	p.H700H	MARK4_uc002pba.1_3'UTR			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;	700					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCTGCCTGCACGGGGGTGCGG	0.746													T	45805809	C	T	45805809	2	4	75	1	0	0	0	0	0	0	0	1	9315	551	19	1		1	MARK4	19	45805809	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1014055	45805809	13323174	1214	53425											
HIF3A	64344	broad.mit.edu	37	chr19	46832597	46832597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccccggccccgtgctcGgagcttccatggcctgtcac	11	18	1	0	rs142248233	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:46832597G>A	uc002peh.2	+	12	1603	c.1574G>A	c.(1573-1575)CGG>CAG	p.R525Q	HIF3A_uc002peg.3_Missense_Mutation_p.R525Q|HIF3A_uc002pei.3_Missense_Mutation_p.R469Q|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Missense_Mutation_p.R469Q|HIF3A_uc010xxy.1_Missense_Mutation_p.R456Q|HIF3A_uc002pel.2_Missense_Mutation_p.R523Q|HIF3A_uc010xxz.1_Missense_Mutation_p.R474Q	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	525	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCCCGTGCTCGGAGCTTCCAT	0.672													A	46832597	G	A	46832597	3	1	75	1	0	0	0	0	1	0	0	0	7105	1116	39	1	1644	1	HIF3A	19	46832597	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1026788	46832597	12296386	1215	53426											
CCDC8	83987	broad.mit.edu	37	chr19	46915732	46915732	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcggctcttgtctctggaGgtctcgaagtcgctgaactc	13	11	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:46915732G>T	uc002pep.2	-	1	1188	c.336C>A	c.(334-336)ACC>ACA	p.T112T		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	112						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TGTCTCTGGAGGTCTCGAAGT	0.652													T	46915732	G	T	46915732	2	4	75	1	0	0	0	0	0	0	0	1	2853	987	35	5		5	CCDC8	19	46915732	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	83135	46915732	12213251	1216	53427											
CARD8	22900	broad.mit.edu	37	chr19	48733886	48733886	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atagaaaggctccacccgggCtggatgctccaggaccatcc	11	14	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:48733886C>G	uc002pie.3	-	6	839	c.526G>C	c.(526-528)GCC>CCC	p.A176P	CARD8_uc002pii.3_Missense_Mutation_p.A282P|CARD8_uc010xzi.1_Missense_Mutation_p.A177P|CARD8_uc010els.2_Missense_Mutation_p.A215P|CARD8_uc010xzj.1_Missense_Mutation_p.A282P|CARD8_uc010xzk.1_Missense_Mutation_p.A201P|CARD8_uc002pif.3_Missense_Mutation_p.A176P|CARD8_uc002pig.3_Missense_Mutation_p.A7P|CARD8_uc002pih.3_Missense_Mutation_p.A232P|CARD8_uc010xzl.1_Missense_Mutation_p.A232P|CARD8_uc010xzm.1_Missense_Mutation_p.A282P	NM_014959	NP_055774	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	176					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity				0		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		TCCACCCGGGCTGGATGCTCC	0.577													G	48733886	C	G	48733886	3	3	75	1	0	0	0	0	1	0	0	0	2651	797	28	5	789	5	CARD8	19	48733886	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1818154	48733886	10395097	1217	53428											
GRIN2D	2906	broad.mit.edu	37	chr19	48908191	48908191	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaccgcggagcgctgacGctggaccctggggcgggcga	19	13	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:48908191G>A	uc002pjc.3	+	3	754	c.666G>A	c.(664-666)ACG>ACA	p.T222T		NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	222	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GAGCGCTGACGCTGGACCCTG	0.706													A	48908191	G	A	48908191	2	1	75	1	0	0	0	0	0	0	0	1	6782	1074	38	1		1	GRIN2D	19	48908191	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	174305	48908191	10220792	1218	53429											
RASIP1	54922	broad.mit.edu	37	chr19	49238628	49238628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcctgctgccgccgccgcCgcccctgaaggctaagctcc	11	20	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:49238628C>T	uc002pki.2	-	4	1201	c.1004G>A	c.(1003-1005)CGG>CAG	p.R335Q		NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Ras-interacting protein 1	335					signal transduction	Golgi stack|perinuclear region of cytoplasm				pancreas(1)	1		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CCGCCGCCGCCGCCCCTGAAG	0.677													T	49238628	C	T	49238628	3	4	75	1	0	0	0	0	1	0	0	0	13078	652	23	1	1923	1	RASIP1	19	49238628	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	330437	49238628	9890355	1219	53430											
SLC6A16	28968	broad.mit.edu	37	chr19	49793594	49793594	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggatgacaatggcaaaaAgggtgatcatcaagagcagt	14	5	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:49793594A>G	uc002pmz.2	-	12	2231	c.1997T>C	c.(1996-1998)CTT>CCT	p.L666P	SLC6A16_uc002pna.2_3'UTR	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	666	Helical; Name=12; (Potential).					integral to membrane|intracellular	neurotransmitter:sodium symporter activity			skin(2)|ovary(1)|kidney(1)	4		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		AATGGCAAAAAGGGTGATCAT	0.512													G	49793594	A	G	49793594	3	3	75	1	0	0	0	0	1	0	0	0	14679	72	3	3	217	3	SLC6A16	19	49793594	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	554966	49793594	9335389	1220	53431											
ALDH16A1	126133	broad.mit.edu	37	chr19	49965948	49965948	+	Frame_Shift_Del	DEL	G	G	-													ggccgtggacatgggggcccGgggggctgccgcatgtgacc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:49965947_49965947CG>C	uc002pnt.3	+	7	1149	c.1033_1033CG>C	c.(1033-1035)cggfs	p.R345fs	ALDH16A1_uc010yar.2_Frame_Shift_Del_p.R294fs|ALDH16A1_uc010yas.2_Frame_Shift_Del_p.R180fs|ALDH16A1_uc010yat.2_Frame_Shift_Del_p.R182fs	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA.	345							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CATGGGGGCCCGGGGGGCTGC	0.682													-	49965948	G	-	49965948	7	5	75	1	0	1	0	1	0	0	0	0	488	1116	39	0	1064	0	ALDH16A1	19	49965948	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	172354	49965948	9163035	1221	53432											
IRF3	3661	broad.mit.edu	37	chr19	50166672	50166672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctctgctaaacgcaaccCttctttgcggttgagggcag	11	12	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:50166672C>T	uc010end.1	-	3	647	c.265G>A	c.(265-267)GGG>AGG	p.G89R	IRF3_uc002pos.1_5'Flank|IRF3_uc002pot.1_Missense_Mutation_p.G89R|IRF3_uc002pox.1_Missense_Mutation_p.G89R|IRF3_uc002poy.1_Missense_Mutation_p.G89R|IRF3_uc002pou.2_Missense_Mutation_p.G89R|IRF3_uc002pov.2_5'UTR|IRF3_uc002pow.2_Missense_Mutation_p.G89R|IRF3_uc002poz.1_Missense_Mutation_p.G89R|IRF3_uc010ene.1_Intron|BCL2L12_uc002ppa.2_5'Flank|BCL2L12_uc002ppb.2_5'Flank	NM_001571	NP_001562	Q14653	IRF3_HUMAN	interferon regulatory factor 3	89	IRF tryptophan pentad repeat.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		AAACGCAACCCTTCTTTGCGG	0.577													T	50166672	C	T	50166672	3	4	75	1	0	0	0	0	1	0	0	0	7831	681	24	4	1042	4	IRF3	19	50166672	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	200724	50166672	8962311	1222	53433											
CPT1C	126129	broad.mit.edu	37	chr19	50195521	50195521	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgtgacatggctgaagcGcaccaggccgtgggcttccg	15	13	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:50195521G>A	uc002ppj.2	+	2	217	c.12G>A	c.(10-12)GCG>GCA	p.A4A	CPT1C_uc002ppl.3_Silent_p.A4A|CPT1C_uc002ppi.2_5'UTR|CPT1C_uc002ppk.2_Silent_p.A4A|CPT1C_uc010eng.2_Silent_p.A4A|CPT1C_uc010enh.2_Silent_p.A4A|CPT1C_uc010ybc.1_5'UTR	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	4	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TGGCTGAAGCGCACCAGGCCG	0.473													A	50195521	G	A	50195521	2	1	75	1	0	0	0	0	0	0	0	1	3833	1074	38	1		1	CPT1C	19	50195521	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	28849	50195521	8933462	1223	53434											
AP2A1	160	broad.mit.edu	37	chr19	50304647	50304648	+	Splice_Site	INS	-	-	C													cacccactcctgcacacagcINScccccagtgcagttctccct							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:50304646_50304647G>GC	uc002ppn.3	+	13	1765	c.1554_splice	c.e13-1	p.S518_splice	AP2A1_uc010enj.1_Intron|AP2A1_uc002ppo.3_Splice_Site_p.S518_splice|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 1 subunit (AP2A1), transcript variant 1, mRNA.	518					Golgi to endosome transport|axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CCTGCACACAGCCCCCCAGTGC	0.639													C	50304648	-	C	50304647	8	5	75	1	0	1	1	0	0	0	1	0	739	753	26	0	1604	0	AP2A1	19	50304647	Splice_Site	INS	-	TCGA-BR-8363-01A-11D-2340-08	109126	50304647	8824336	1224	53435											
ZNF473	25888	broad.mit.edu	37	chr19	50549330	50549331	+	Frame_Shift_Ins	INS	-	-	T													cgccagagaaaaacaaggatINStttttgtgagtgggaagatc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:50549329_50549330A>AT	uc002prn.3	+	4	1866_1867	c.1629_1630A>AT	c.(1627-1632)ggatttfs	p.G543fs	ZNF473_uc002prm.3_Frame_Shift_Ins_p.G543fs|ZNF473_uc010ybo.2_Frame_Shift_Ins_p.G531fs	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA.	543	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AAAAACAAGGATTTTTTGTGAG	0.446													T	50549331	-	T	50549330	7	5	75	1	0	1	1	0	0	0	0	0	17928	1493	52	0	1644	0	ZNF473	19	50549330	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	244683	50549330	8579653	1225	53436											
MYH14	79784	broad.mit.edu	37	chr19	50752310	50752310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttccgctggctggttctgCgcctcaaccgggccttggac	12	15	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:50752310C>T	uc002prr.1	+	12	1419	c.1372C>T	c.(1372-1374)CGC>TGC	p.R458C	MYH14_uc010enu.1_Missense_Mutation_p.R466C|MYH14_uc002prq.1_Missense_Mutation_p.R466C	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	458	Myosin head-like.			R -> S (in Ref. 5; BG468611).	axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCTGGTTCTGCGCCTCAACCG	0.672													T	50752310	C	T	50752310	3	4	75	1	0	0	0	0	1	0	0	0	10033	768	27	1	1442	1	MYH14	19	50752310	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	202980	50752310	8376673	1226	53437											
NR1H2	7376	broad.mit.edu	37	chr19	50882014	50882014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtggcggcccaactgcaGtgcaacaaacgctccttctc	10	14	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:50882014G>A	uc010enw.2	+	7	987	c.711G>A	c.(709-711)CAG>CAA	p.Q237Q	NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Silent_p.Q236Q|NR1H2_uc002psa.3_Silent_p.Q139Q	NM_007121	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	236	Ligand-binding (Potential).				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCCAACTGCAGTGCAACAAAC	0.612													A	50882014	G	A	50882014	2	1	75	1	0	0	0	0	0	0	0	1	10617	1020	36	4		4	NR1H2	19	50882014	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	129704	50882014	8246969	1227	53438											
FAM71E1	112703	broad.mit.edu	37	chr19	50979543	50979543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcactgtgacgtcatgatGcggagcgggctttatgacgt	15	9	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:50979543G>A	uc002psh.2	-	1	461	c.103C>T	c.(103-105)CAT>TAT	p.H35Y	FAM71E1_uc002psg.2_Missense_Mutation_p.H35Y|FAM71E1_uc002psi.2_RNA|C19orf63_uc002psj.2_5'Flank|C19orf63_uc002psk.2_5'Flank|C19orf63_uc002psl.2_5'Flank	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN	hypothetical protein LOC112703	35										breast(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		ACGTCATGATGCGGAGCGGGC	0.652													A	50979543	G	A	50979543	3	1	75	1	0	0	0	0	1	0	0	0	5611	1319	46	2	608	2	FAM71E1	19	50979543	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	97529	50979543	8149440	1228	53439											
LRRC4B	94030	broad.mit.edu	37	chr19	51021472	51021472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctgcagggcctcctctcCgggctgcgtctccagggtct	14	16	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:51021472C>T	uc002pss.2	-	3	1635	c.1498G>A	c.(1498-1500)GGA>AGA	p.G500R		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	500	Gly-rich.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCCTCCTCTCCGGGCTGCGTC	0.542													T	51021472	C	T	51021472	3	4	75	1	0	0	0	0	1	0	0	0	9007	661	23	1	647	1	LRRC4B	19	51021472	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	41929	51021472	8107511	1229	53440											
KLK11	11012	broad.mit.edu	37	chr19	51527542	51527542	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctccttctggaggttgtgCtgccccaggtgaactatgta	11	11	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:51527542C>A	uc002pvd.1	-	4	430	c.318G>T	c.(316-318)CAG>CAT	p.Q106H	KLK11_uc002pvb.1_Missense_Mutation_p.Q99H|KLK11_uc002pve.1_5'UTR|KLK11_uc002pvf.1_Missense_Mutation_p.Q74H|KLK11_uc002pvc.3_Missense_Mutation_p.Q74H|KLK11_uc010eom.2_Missense_Mutation_p.A76S	NM_144947	NP_659196	Q9UBX7	KLK11_HUMAN	kallikrein 11 isoform 2 precursor	106	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		GGAGGTTGTGCTGCCCCAGGT	0.602													A	51527542	C	A	51527542	3	1	75	1	0	0	0	0	1	0	0	0	8399	796	28	5	542	5	KLK11	19	51527542	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	506070	51527542	7601441	1230	53441											
ZNF480	147657	broad.mit.edu	37	chr19	52819102	52819102	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaggaatctctcttcctgAcctgaatattaactccatgt	5	11	2	2	rs146196080	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:52819102A>G	uc010ydl.1	+	4	285	c.215A>G	c.(214-216)GAC>GGC	p.D72G	ZNF480_uc002pyv.2_5'UTR|ZNF480_uc010ydm.1_Intron|ZNF480_uc010epn.2_Intron|uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TCTCTTCCTGACCTGAATATT	0.413													G	52819102	A	G	52819102	3	3	75	1	0	0	0	0	1	0	0	0	17932	275	10	3	225	3	ZNF480	19	52819102	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1291560	52819102	6309881	1231	53442											
ZNF701	55762	broad.mit.edu	37	chr19	53085749	53085749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcttggatcaagctttcattCgcatctgcctgaagtgcaca	9	11	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:53085749C>T	uc002pzs.1	+	4	564	c.437C>T	c.(436-438)TCG>TTG	p.S146L	ZNF701_uc010ydn.1_Missense_Mutation_p.S212L	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	zinc finger protein 701	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AGCTTTCATTCGCATCTGCCT	0.408													T	53085749	C	T	53085749	3	4	75	1	0	0	0	0	1	0	0	0	18102	893	31	1	649	1	ZNF701	19	53085749	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	266647	53085749	6043234	1232	53443											
ZNF347	84671	broad.mit.edu	37	chr19	53643876	53643876	+	Frame_Shift_Del	DEL	T	T	-													cactcattgcatttgtaaggTttttttccagtatggattgc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:53643875_53643875GT>G	uc002qbc.2	-	4	2636	c.2209_2209AC>C	c.(2209-2211)cctfs	p.P737fs	ZNF347_uc002qbb.2_Frame_Shift_Del_p.P736fs|ZNF347_uc010eql.2_Frame_Shift_Del_p.P737fs	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	736					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CATTTGTAAGGTTTTTTTCCA	0.423													-	53643876	T	-	53643876	7	5	75	1	0	1	0	1	0	0	0	0	17858	1722	60	0	318	0	ZNF347	19	53643876	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	558127	53643876	5485107	1233	53444											
ZNF765	91661	broad.mit.edu	37	chr19	53912301	53912301	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccttacaaatgtgaagAttgtgatgaagctttcagtt	9	5	1	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:53912301A>G	uc010ydx.1	+	6	1820	c.1493A>G	c.(1492-1494)GAT>GGT	p.D498G	ZNF765_uc002qbm.2_Missense_Mutation_p.D498G|ZNF765_uc002qbn.2_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	498	C2H2-type 11; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00379)		AAATGTGAAGATTGTGATGAA	0.398													G	53912301	A	G	53912301	3	3	75	1	0	0	0	0	1	0	0	0	18136	333	12	3	1503	3	ZNF765	19	53912301	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	268425	53912301	5216682	1234	53445											
LILRA2	11027	broad.mit.edu	37	chr19	55098813	55098813	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagatgcagccgggaggtgAacagcagagaggacaatgca	15	8	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:55098813A>G	uc002qgg.3	+	8	1541	c.1452A>G	c.(1450-1452)TGA>TGG	p.*484W	LILRA2_uc010ern.2_3'UTR|LILRA2_uc002qgf.2_Nonstop_Mutation_p.*467W|LILRA2_uc010ero.2_Nonstop_Mutation_p.*455W|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	484					defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		CCGGGAGGTGAACAGCAGAGA	0.562													G	55098813	A	G	55098813	4	3	75	1	0	0	0	0	0	0	0	0	8785	259	9	3	1482	3	LILRA2	19	55098813	Nonstop_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1186512	55098813	4030170	1235	53446											
SYT5	6861	broad.mit.edu	37	chr19	55687229	55687229	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgccaatcccattgcttgcaGaatgcccaccagcagctgca	8	15	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:55687229G>C	uc002qjm.1	-	4	1448	c.388C>G	c.(388-390)CTG>GTG	p.L130V	SYT5_uc002qjp.2_Missense_Mutation_p.L127V|SYT5_uc002qjn.1_Missense_Mutation_p.L130V|SYT5_uc002qjo.1_Missense_Mutation_p.L130V	NM_003180	NP_003171	O00445	SYT5_HUMAN	synaptotagmin V	130	Cytoplasmic (Potential).|C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ATTGCTTGCAGAATGCCCACC	0.607													C	55687229	G	C	55687229	3	2	75	1	0	0	0	0	1	0	0	0	15474	933	33	5	792	5	SYT5	19	55687229	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	588416	55687229	3441754	1236	53447											
HSPBP1	23640	broad.mit.edu	37	chr19	55790814	55790814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctggctcttcagagcccgCggtgatggccatctgcagca	13	13	4	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:55790814C>T	uc002qjx.2	-	1	411	c.301G>A	c.(301-303)GCG>ACG	p.A101T	HSPBP1_uc002qjy.2_Missense_Mutation_p.A55T|HSPBP1_uc002qkb.2_Missense_Mutation_p.A55T|HSPBP1_uc002qka.2_Missense_Mutation_p.A55T|HSPBP1_uc002qkd.2_Missense_Mutation_p.A55T|HSPBP1_uc002qkc.2_Missense_Mutation_p.A55T|BRSK1_uc002qkf.2_5'Flank	NM_012267	NP_036399	Q9NZL4	HPBP1_HUMAN	hsp70-interacting protein	58					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TCAGAGCCCGCGGTGATGGCC	0.662													T	55790814	C	T	55790814	3	4	75	1	0	0	0	0	1	0	0	0	7426	768	27	1	944	1	HSPBP1	19	55790814	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	103585	55790814	3338169	1237	53448											
ZNF835	90485	broad.mit.edu	37	chr19	57175267	57175267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgtgcgctggtgcagggCgagcgaggagccctggctga	20	10	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:57175267C>T	uc010ygo.1	-	2	1366	c.1366G>A	c.(1366-1368)GCC>ACC	p.A456T	ZNF835_uc010ygn.1_Missense_Mutation_p.A434T	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						TGGTGCAGGGCGAGCGAGGAG	0.652													T	57175267	C	T	57175267	3	4	75	1	0	0	0	0	1	0	0	0	18183	768	27	1	315	1	ZNF835	19	57175267	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1384453	57175267	1953716	1238	53449											
PEG3	5178	broad.mit.edu	37	chr19	57335816	57335816	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaaccaatcgaggcagaGgtttcggagtttgatcaggg	14	8	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:57335816G>T	uc002qnu.2	-	1	559	c.208C>A	c.(208-210)CTC>ATC	p.L70I	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.L70I|PEG3_uc002qnv.2_Missense_Mutation_p.L70I|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Missense_Mutation_p.L70I	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	70	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCGAGGCAGAGGTTTCGGAGT	0.502													T	57335816	G	T	57335816	3	4	75	1	0	0	0	0	1	0	0	0	11720	1000	35	5		5	PEG3	19	57335816	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	160549	57335816	1793167	1239	53450											
ZNF211	10520	broad.mit.edu	37	chr19	58153457	58153457	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagagttcacacgggaaaaAggccttatcagtgcagtcaa	11	9	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:58153457A>G	uc002qpq.2	+	3	1783	c.1603A>G	c.(1603-1605)AGG>GGG	p.R535G	ZNF211_uc010yhb.1_Missense_Mutation_p.R539G|ZNF211_uc002qpp.2_Missense_Mutation_p.R548G|ZNF211_uc002qpr.2_Missense_Mutation_p.R599G|ZNF211_uc002qps.2_Missense_Mutation_p.R600G|ZNF211_uc002qpt.2_Missense_Mutation_p.R547G|ZNF211_uc010yhc.1_Missense_Mutation_p.R547G|ZNF211_uc010yhd.1_Missense_Mutation_p.R474G|ZNF211_uc010yhe.1_Missense_Mutation_p.R526G	NM_198855	NP_942152	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 2	535						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACGGGAAAAAGGCCTTATCA	0.458													G	58153457	A	G	58153457	3	3	75	1	0	0	0	0	1	0	0	0	17764	63	3	3	1656	3	ZNF211	19	58153457	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	817641	58153457	975526	1240	53451											
ZNF586	54807	broad.mit.edu	37	chr19	58288015	58288015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgacgtgatgctggagacCttgacacttatatcctccct	9	12	0	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:58288015C>T	uc002qqd.2	+	2	327	c.141C>T	c.(139-141)ACC>ACT	p.T47T	ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_Intron|ZNF586_uc010euh.2_Silent_p.T4T|ZNF586_uc002qqf.1_Intron	NM_017652	NP_060122	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCTGGAGACCTTGACACTTA	0.478													T	58288015	C	T	58288015	2	4	75	1	0	0	0	0	0	0	0	1	18016	668	24	4		4	ZNF586	19	58288015	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	134558	58288015	840968	1241	53452											
ZNF606	80095	broad.mit.edu	37	chr19	58490178	58490178	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccacatttattacattcatAgggcttaattccagaatgaa	5	8	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:58490178A>T	uc002qqw.2	-	7	2488	c.1870T>A	c.(1870-1872)TAT>AAT	p.Y624N	ZNF606_uc010yhp.1_Missense_Mutation_p.Y534N	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	624	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTACATTCATAGGGCTTAATT	0.403													T	58490178	A	T	58490178	3	4	75	1	0	0	0	0	1	0	0	0	18029	420	15	5	512	5	ZNF606	19	58490178	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	202163	58490178	638805	1242	53453											
ZNF329	79673	broad.mit.edu	37	chr19	58640644	58640644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacggtggaaggtctgagCttgcaatcaaatgctcccca	12	10	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:58640644C>T	uc002qrn.2	-	4	464	c.227G>A	c.(226-228)AGC>AAC	p.S76N	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		AAGGTCTGAGCTTGCAATCAA	0.493													T	58640644	C	T	58640644	3	4	75	1	0	0	0	0	1	0	0	0	17844	797	28	2	1402	2	ZNF329	19	58640644	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	150466	58640644	488339	1243	53454											
RPS5	6193	broad.mit.edu	37	chr19	58904820	58904820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggactgtgagacgacaggCtgtggatgtgtcccccctgc	15	12	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:58904820C>T	uc002qsn.2	+	4	485	c.413C>T	c.(412-414)GCT>GTT	p.A138V	RPS5_uc002qso.2_Missense_Mutation_p.A138V	NM_001009	NP_001000	P46782	RS5_HUMAN	ribosomal protein S5	138					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome				0		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		AGACGACAGGCTGTGGATGTG	0.647													T	58904820	C	T	58904820	3	4	75	1	0	0	0	0	1	0	0	0	13648	797	28	2	423	2	RPS5	19	58904820	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	264176	58904820	224163	1244	53455											
C20orf96	140680	broad.mit.edu	37	chr20	259839	259839	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtcctgctgctgcagcaGggcccgcacgtgcagggtcg	17	13	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:259839G>T	uc002wde.1	-	5	578	c.439C>A	c.(439-441)CTG>ATG	p.L147M	C20orf96_uc002wdc.2_Missense_Mutation_p.L94M|C20orf96_uc002wdd.2_Missense_Mutation_p.L112M|C20orf96_uc010zpi.1_Missense_Mutation_p.L94M|C20orf96_uc010zpj.1_Missense_Mutation_p.L112M|C20orf96_uc010zpk.1_Missense_Mutation_p.L85M	NM_153269	NP_695001	Q9NUD7	CT096_HUMAN	hypothetical protein LOC140680	147	Potential.										0		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TGCTGCAGCAGGGCCCGCACG	0.488													T	259839	G	T	259839	3	4	75	1	0	0	0	0	1	0	0	0	2122	991	35	5	680	5	C20orf96	20	259839	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08		259839	62765681	1245	53456											
C20orf194	25943	broad.mit.edu	37	chr20	3299036	3299036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtcaggaatgtcatagacGgccatacaagcctgcattga	10	9	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:3299036G>A	uc002wii.2	-	17	1419	c.1368C>T	c.(1366-1368)GCC>GCT	p.A456A	C20orf194_uc002wij.3_Silent_p.A195A|C20orf194_uc002wik.2_Silent_p.A130A	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	456											0						TGTCATAGACGGCCATACAAG	0.398													A	3299036	G	A	3299036	2	1	75	1	0	0	0	0	0	0	0	1	2099	1103	39	1		1	C20orf194	20	3299036	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	3039197	3299036	59726484	1246	53457											
HSPA12B	116835	broad.mit.edu	37	chr20	3732766	3732766	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtcaccgccgtcgacgtcAgcaccaatcgctccgtgcgc	11	17	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:3732766A>G	uc002wjd.2	+	13	2117	c.2014A>G	c.(2014-2016)AGC>GGC	p.S672G	HSPA12B_uc010zqi.1_Missense_Mutation_p.S671G|HSPA12B_uc002wje.2_Missense_Mutation_p.S585G|HSPA12B_uc010zqj.1_Missense_Mutation_p.S506G	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	672							ATP binding				0						CGTCGACGTCAGCACCAATCG	0.711													G	3732766	A	G	3732766	3	3	75	1	0	0	0	0	1	0	0	0	7405	188	7	3	2060	3	HSPA12B	20	3732766	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	433730	3732766	59292754	1247	53458											
CENPB	1059	broad.mit.edu	37	chr20	3766572	3766572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaacacgtcctgcgaggCgtagccctcggccaccgacg	13	16	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:3766572C>T	uc002wjk.2	-	1	766	c.559G>A	c.(559-561)GCC>ACC	p.A187T	CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	centromere protein B	187					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding				0						TCCTGCGAGGCGTAGCCCTCG	0.731													T	3766572	C	T	3766572	3	4	75	1	0	0	0	0	1	0	0	0	3227	768	27	1	1244	1	CENPB	20	3766572	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	33806	3766572	59258948	1248	53459											
PROKR2	128674	broad.mit.edu	37	chr20	5283318	5283318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacaccatccagaccaaggCgatcaggaaggaggccgttt	13	11	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:5283318C>T	uc010zqw.1	-	2	523	c.523G>A	c.(523-525)GCC>ACC	p.A175T	PROKR2_uc010zqx.1_Missense_Mutation_p.A175T|PROKR2_uc010zqy.1_Missense_Mutation_p.A175T	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	175	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5						CAGACCAAGGCGATCAGGAAG	0.493										HNSCC(71;0.22)			T	5283318	C	T	5283318	3	4	75	1	0	0	0	0	1	0	0	0	12553	768	27	1	634	1	PROKR2	20	5283318	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1516746	5283318	57742202	1249	53460											
GPCPD1	56261	broad.mit.edu	37	chr20	5564949	5564949	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggattccaaattgtccatcGtcaataataatttcgctttc	5	9	1	0	rs142496941	by1000genomes	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:5564949G>A	uc002wme.3	-	6	540	c.327C>T	c.(325-327)GAC>GAT	p.D109D	GPCPD1_uc002wmd.3_Translation_Start_Site	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	hypothetical protein LOC56261	109	CBM20.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity				0						ATTGTCCATCGTCAATAATAA	0.313													A	5564949	G	A	5564949	2	1	75	1	0	0	0	0	0	0	0	1	6603	1136	40	1		1	GPCPD1	20	5564949	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	281631	5564949	57460571	1250	53461											
ANKRD5	63926	broad.mit.edu	37	chr20	10026338	10026338	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgctgtaaatatatagcTcagcgaggtaaaattgtcta	9	6	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:10026338T>G	uc002wno.2	+	6	1206	c.813T>G	c.(811-813)GCT>GCG	p.A271A	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Silent_p.A271A|ANKRD5_uc010gbz.2_Silent_p.A82A	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	271	ANK 4.						calcium ion binding			ovary(1)|breast(1)	2						AATATATAGCTCAGCGAGGTA	0.423													G	10026338	T	G	10026338	2	3	75	1	0	0	0	0	0	0	0	1	676	1538	54	5		5	ANKRD5	20	10026338	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	4461389	10026338	52999182	1251	53462											
ANKRD5	63926	broad.mit.edu	37	chr20	10036204	10036204	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggaagagggaactacggCgagagaggtttacacatgag	15	6	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:10036204C>T	uc002wno.2	+	11	2620	c.2227C>T	c.(2227-2229)CGA>TGA	p.R743*	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Nonsense_Mutation_p.R743*|ANKRD5_uc010gbz.2_Nonsense_Mutation_p.R554*	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	743							calcium ion binding			ovary(1)|breast(1)	2						GGAACTACGGCGAGAGAGGTT	0.463													T	10036204	C	T	10036204	4	4	75	1	0	0	0	0	0	1	0	0	676	760	27	1	2261	1	ANKRD5	20	10036204	Nonsense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	9866	10036204	52989316	1252	53463											
SLC24A3	57419	broad.mit.edu	37	chr20	19701764	19701764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcacctttgtgaacctgCccatgtgcggggaccactga	11	12	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:19701764C>T	uc002wrl.2	+	17	2112	c.1915C>T	c.(1915-1917)CCC>TCC	p.P639S		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	639	Extracellular (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						TGTGAACCTGCCCATGTGCGG	0.597													T	19701764	C	T	19701764	3	4	75	1	0	0	0	0	1	0	0	0	14467	739	26	2	1981	2	SLC24A3	20	19701764	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	9665560	19701764	43323756	1253	53464											
RIN2	54453	broad.mit.edu	37	chr20	19972890	19972890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacatgcttgaattggacaCtgaaatcgagtacatgatgg	11	6	0	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:19972890C>T	uc002wro.1	+	9	2183	c.2147C>T	c.(2146-2148)ACT>ATT	p.T716I	RIN2_uc010gcu.1_Missense_Mutation_p.T283I|RIN2_uc010gcv.1_Missense_Mutation_p.T510I	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	716	VPS9.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5						GAATTGGACACTGAAATCGAG	0.468													T	19972890	C	T	19972890	3	4	75	1	0	0	0	0	1	0	0	0	13372	565	20	4	2181	4	RIN2	20	19972890	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	271126	19972890	43052630	1254	53465											
INSM1	3642	broad.mit.edu	37	chr20	20349795	20349795	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgcatcgtgcgtgtggagtAccgctgtcccgagtgcgcca	15	13	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:20349795A>G	uc002wrx.2	+	1	1031	c.884A>G	c.(883-885)TAC>TGC	p.Y295C		NM_002196	NP_002187	Q01101	INSM1_HUMAN	insulinoma-associated 1	295	C2H2-type 2.				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0649)		CGTGTGGAGTACCGCTGTCCC	0.537													G	20349795	A	G	20349795	3	3	75	1	0	0	0	0	1	0	0	0	7771	391	14	3	886	3	INSM1	20	20349795	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	376905	20349795	42675725	1255	53466											
NKX2-2	4821	broad.mit.edu	37	chr20	21492611	21492611	+	Frame_Shift_Del	DEL	G	G	-													ggggtgtgctgtcgggtactGgggggtgctggccgagctgt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:21492610_21492610TG>T	uc002wsi.3	-	1	1130	c.773_773CA>A	c.(772-774)cagfs	p.Q258fs		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	258					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	p.P257T(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGTCGGGTACTGGGGGGTGCT	0.701													-	21492611	G	-	21492611	7	5	75	1	0	1	0	1	0	0	0	0	10450	1357	47	0	53	0	NKX2-2	20	21492611	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	1142816	21492611	41532909	1256	53467											
NKX2-2	4821	broad.mit.edu	37	chr20	21493107	21493107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcctgagggggcgccccGgcagccagaccgtgcactgg	17	14	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:21493107G>A	uc002wsi.2	-	2	633	c.276C>T	c.(274-276)GCC>GCT	p.A92A		NM_002509	NP_002500	O95096	NKX22_HUMAN	NK2 transcription factor related, locus 2	92					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			pancreas(1)|skin(1)	2						GGGGCGCCCCGGCAGCCAGAC	0.726													A	21493107	G	A	21493107	2	1	75	1	0	0	0	0	0	0	0	1	10450	1103	39	1		1	NKX2-2	20	21493107	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	496	21493107	41532413	1257	53468											
PYGB	5834	broad.mit.edu	37	chr20	25257947	25257947	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaacatctccagggtcctGtatccaaatgataacgtgag	10	9	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:25257947G>A	uc002wup.2	+	7	949	c.840G>A	c.(838-840)CTG>CTA	p.L280L		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	280					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	CCAGGGTCCTGTATCCAAATG	0.572													A	25257947	G	A	25257947	2	1	75	1	0	0	0	0	0	0	0	1	12860	1364	48	4		4	PYGB	20	25257947	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	3764840	25257947	37767573	1258	53469											
NINL	22981	broad.mit.edu	37	chr20	25456869	25456869	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgggatggcaaggaccCtctcctggcaacctccacac	12	14	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:25456869C>A	uc002wux.1	-	17	3132	c.3058G>T	c.(3058-3060)GGG>TGG	p.G1020W	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	1020					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GGCAAGGACCCTCTCCTGGCA	0.677													A	25456869	C	A	25456869	3	1	75	1	0	0	0	0	1	0	0	0	10420	681	24	5	1122	5	NINL	20	25456869	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	198922	25456869	37568651	1259	53470											
NINL	22981	broad.mit.edu	37	chr20	25457248	25457248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggatgccggggcaggggcGggggccgggctctgcgtagc	23	10	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:25457248G>A	uc002wux.1	-	17	2753	c.2679C>T	c.(2677-2679)CCC>CCT	p.P893P	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	893					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GGGCAGGGGCGGGGGCCGGGC	0.687													A	25457248	G	A	25457248	2	1	75	1	0	0	0	0	0	0	0	1	10420	1103	39	1		1	NINL	20	25457248	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	379	25457248	37568272	1260	53471											
REM1	28954	broad.mit.edu	37	chr20	30064348	30064348	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaccagcctggccgcctgAgcacagtgccttccactcaa	9	18	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:30064348A>C	uc002wwa.2	+	2	384	c.100A>C	c.(100-102)AGC>CGC	p.S34R		NM_014012	NP_054731	O75628	REM1_HUMAN	RAS-like GTP-binding protein REM	34					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			lung(2)|pancreas(2)	4	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGGCCGCCTGAGCACAGTGCC	0.647													C	30064348	A	C	30064348	3	2	75	1	0	0	0	0	1	0	0	0	13222	304	11	5	102	5	REM1	20	30064348	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	4607100	30064348	32961172	1261	53472											
ASXL1	171023	broad.mit.edu	37	chr20	31023219	31023219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgcattggatacccatcCcatcgaatgatgaggtagtg	10	9	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:31023219C>T	uc002wxs.2	+	12	3130	c.2704C>T	c.(2704-2706)CCA>TCA	p.P902S	ASXL1_uc010geb.2_Missense_Mutation_p.P793S	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	902					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						GATACCCATCCCATCGAATGA	0.478			F|N|Mis		MDS|CMML								T	31023219	C	T	31023219	3	4	75	1	0	0	0	0	1	0	0	0	1066	623	22	4	2760	4	ASXL1	20	31023219	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	958871	31023219	32002301	1262	53473											
C20orf112	140688	broad.mit.edu	37	chr20	31040055	31040055	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaccattactgtggtttccTgtttggagggaggcaggggg	16	7	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:31040055T>C	uc002wxu.3	-	7	1231	c.1074A>G	c.(1072-1074)ACA>ACG	p.T358T	C20orf112_uc010gec.2_Silent_p.T183T	NM_080616	NP_542183	Q96MY1	CT112_HUMAN	hypothetical protein LOC140688	358											0						TGTGGTTTCCTGTTTGGAGGG	0.652													C	31040055	T	C	31040055	2	2	75	1	0	0	0	0	0	0	0	1	2081	1567	55	3		3	C20orf112	20	31040055	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	16836	31040055	31985465	1263	53474											
COMMD7	149951	broad.mit.edu	37	chr20	31315724	31315724	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggaaccagaaggaggctttTcacgatgcttctgagggagc	14	8	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:31315724T>A	uc002wya.3	-	3	834	c.217A>T	c.(217-219)AAA>TAA	p.K73*	COMMD7_uc010ged.2_Nonsense_Mutation_p.K72*|COMMD7_uc002wyb.2_Nonsense_Mutation_p.K73*	NM_053041	NP_444269	Q86VX2	COMD7_HUMAN	COMM domain containing 7 isoform 1	73					negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway		NF-kappaB binding			breast(1)	1						AGGAGGCTTTTCACGATGCTT	0.468													A	31315724	T	A	31315724	4	1	75	1	0	0	0	0	0	1	0	0	3721	1792	62	5	413	5	COMMD7	20	31315724	Nonsense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	275669	31315724	31709796	1264	53475											
DNMT3B	1789	broad.mit.edu	37	chr20	31389173	31389173	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accggccgttcttctggatgTttgagaatgttgtagccatg	12	8	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:31389173T>C	uc002wyc.2	+	19	2407	c.2086T>C	c.(2086-2088)TTT>CTT	p.F696L	DNMT3B_uc002wyd.2_Missense_Mutation_p.F676L|DNMT3B_uc002wye.2_Missense_Mutation_p.F676L|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.F634L|DNMT3B_uc010zua.1_Missense_Mutation_p.F600L|DNMT3B_uc002wyf.2_Missense_Mutation_p.F688L|DNMT3B_uc002wyg.2_Missense_Mutation_p.F395L|DNMT3B_uc010geg.2_5'UTR|DNMT3B_uc010geh.2_RNA	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	696					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5						CTTCTGGATGTTTGAGAATGT	0.542													C	31389173	T	C	31389173	3	2	75	1	0	0	0	0	1	0	0	0	4677	1725	60	3	2196	3	DNMT3B	20	31389173	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	73449	31389173	31636347	1265	53476											
NCOA6	23054	broad.mit.edu	37	chr20	33346694	33346694	+	Frame_Shift_Del	DEL	G	G	-													aagatgacacatttccacccGggggtatcataacagtggca					rs143078359		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:33346693_33346693CG>C	uc002xav.3	-	6	3129	c.558_558CG>G	c.(556-558)ccgfs	p.P186fs	NCOA6_uc002xaw.3_Frame_Shift_Del_p.P186fs|NCOA6_uc021wcd.1_Frame_Shift_Del_p.P186fs|NCOA6_uc021wce.1_Frame_Shift_Del_p.P186fs|NCOA6_uc021wcf.1_Frame_Shift_Del_p.P186fs|NCOA6_uc010gew.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	186	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATTTCCACCCGGGGGTATCA	0.453													-	33346694	G	-	33346694	7	5	75	1	0	1	0	1	0	0	0	0	10233	1116	39	0	5674	0	NCOA6	20	33346694	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	1957521	33346694	29678826	1266	53477											
TGM2	7052	broad.mit.edu	37	chr20	36779433	36779433	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacatactcctgccgctcctCttccgagtccaggtacacag	8	16	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:36779433C>A	uc002xhr.2	-	4	560	c.460G>T	c.(460-462)GAG>TAG	p.E154*	TGM2_uc010zvx.1_Nonsense_Mutation_p.E73*|TGM2_uc010zvy.1_Nonsense_Mutation_p.E94*|TGM2_uc002xhs.1_Nonsense_Mutation_p.E130*|TGM2_uc002xht.2_Nonsense_Mutation_p.E154*|TGM2_uc002xhu.3_Nonsense_Mutation_p.E154*	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	154					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TGCCGCTCCTCTTCCGAGTCC	0.577													A	36779433	C	A	36779433	4	1	75	1	0	0	0	0	0	1	0	0	15827	922	32	5	1675	5	TGM2	20	36779433	Nonsense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3432739	36779433	26246087	1267	53478											
TGM2	7052	broad.mit.edu	37	chr20	36779450	36779450	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcttccgagtccaggtacAcagcatccgctgcaggcagg	11	15	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:36779450A>C	uc002xhr.2	-	4	543	c.443T>G	c.(442-444)GTG>GGG	p.V148G	TGM2_uc010zvx.1_Missense_Mutation_p.V67G|TGM2_uc010zvy.1_Missense_Mutation_p.V88G|TGM2_uc002xhs.1_Missense_Mutation_p.V124G|TGM2_uc002xht.2_Missense_Mutation_p.V148G|TGM2_uc002xhu.3_Missense_Mutation_p.V148G	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	148					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GTCCAGGTACACAGCATCCGC	0.577													C	36779450	A	C	36779450	3	2	75	1	0	0	0	0	1	0	0	0	15827	159	6	5	1692	5	TGM2	20	36779450	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	17	36779450	26246070	1268	53479											
KIAA1755	85449	broad.mit.edu	37	chr20	36870054	36870054	+	Frame_Shift_Del	DEL	T	T	-													ccaagcagttgtgtaggggaTttccctcaaagtcactgttg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:36870053_36870053AT>A	uc002xhy.1	-	2	752	c.480_480AT>T	c.(478-480)aatfs	p.N160fs	KIAA1755_uc002xhz.1_Frame_Shift_Del_p.N160fs	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	160										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGTGTAGGGGATTTCCCTCAA	0.512													-	36870054	T	-	36870054	7	5	75	1	0	1	0	1	0	0	0	0	8257	1493	52	0	3171	0	KIAA1755	20	36870054	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	90604	36870054	26155466	1269	53480											
ZSWIM3	140831	broad.mit.edu	37	chr20	44505691	44505691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaagccagagcaggaagGcatcactccttctgacctgg	10	13	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:44505691G>A	uc002xqd.2	+	2	697	c.494G>A	c.(493-495)GGC>GAC	p.G165D	ZSWIM3_uc010zxg.1_Missense_Mutation_p.G159D	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	165							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				GAGCAGGAAGGCATCACTCCT	0.493													A	44505691	G	A	44505691	3	1	75	1	0	0	0	0	1	0	0	0	18239	1203	42	2	500	2	ZSWIM3	20	44505691	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	7635637	44505691	18519829	1270	53481											
SPATA2	9825	broad.mit.edu	37	chr20	48524813	48524813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgagcgagcgcaaggagCtctccaccacctcatagaac	10	14	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:48524813C>T	uc010gie.2	-	2	565	c.215G>A	c.(214-216)AGC>AAC	p.S72N	SPATA2_uc002xuw.2_Missense_Mutation_p.S72N|SPATA2_uc010zyn.1_Intron	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	72					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GCGCAAGGAGCTCTCCACCAC	0.607													T	48524813	C	T	48524813	3	4	75	1	0	0	0	0	1	0	0	0	15004	797	28	2	1355	2	SPATA2	20	48524813	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	4019122	48524813	14500707	1271	53482											
FAM65C	140876	broad.mit.edu	37	chr20	49211196	49211196	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaggaccctgccaggcccTgtgcaccctctccacagctt	9	18	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:49211196T>C	uc002xvm.2	-	17	2412	c.2094A>G	c.(2092-2094)ACA>ACG	p.T698T	FAM65C_uc010zyt.1_Silent_p.T702T|FAM65C_uc010zyu.1_RNA	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	698										ovary(2)	2						TGCCAGGCCCTGTGCACCCTC	0.612													C	49211196	T	C	49211196	2	2	75	1	0	0	0	0	0	0	0	1	5601	1567	55	3		3	FAM65C	20	49211196	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	686383	49211196	13814324	1272	53483											
PMEPA1	56937	broad.mit.edu	37	chr20	56227349	56227349	+	Frame_Shift_Del	DEL	G	G	-													ctgatgcccgagttactgctGggggggcaggggccgcccag							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:56227348_56227348TG>T	uc002xyq.3	-	3	1018	c.625_625CA>A	c.(625-627)agcfs	p.S209fs	PMEPA1_uc002xyr.3_Frame_Shift_Del_p.S159fs|PMEPA1_uc002xys.3_Frame_Shift_Del_p.S174fs|PMEPA1_uc002xyt.3_Frame_Shift_Del_p.S159fs	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	209					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GAGTTACTGCTGGGGGGGCAG	0.687													-	56227349	G	-	56227349	7	5	75	1	0	1	0	1	0	0	0	0	12132	1335	47	0	243	0	PMEPA1	20	56227349	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	7016153	56227349	6798171	1273	53484											
VAPB	9217	broad.mit.edu	37	chr20	56993331	56993331	+	Frame_Shift_Del	DEL	T	T	-													ccgacagaccgaaatgtgtgTtttaaggtgaagactacagc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:56993330_56993330GT>G	uc002xza.3	+	1	463	c.122_122GT>G	c.(121-123)tgtfs	p.C41fs	VAPB_uc010zzo.2_5'UTR|VAPB_uc002xzd.2_Frame_Shift_Del_p.C41fs|VAPB_uc002xzb.3_Non-coding_Transcript	NM_004738	NP_004729	O95292	VAPB_HUMAN	Homo sapiens VAMP (vesicle-associated membrane protein)-associated protein B and C (VAPB), transcript variant 1, mRNA.	41	MSP.				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			CGAAATGTGTGTTTTAAGGTG	0.498													-	56993331	T	-	56993331	7	5	75	1	0	1	0	1	0	0	0	0	17119	1731	60	0	129	0	VAPB	20	56993331	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	765982	56993331	6032189	1274	53485											
ZNF831	128611	broad.mit.edu	37	chr20	57769284	57769284	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagttcaggacatggagggTgacagccaccgtatccatcg	12	10	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:57769284T>C	uc002yan.2	+	1	3210	c.3210T>C	c.(3208-3210)GGT>GGC	p.G1070G		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1070						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					ACATGGAGGGTGACAGCCACC	0.627													C	57769284	T	C	57769284	2	2	75	1	0	0	0	0	0	0	0	1	18182	1683	59	3		3	ZNF831	20	57769284	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	775953	57769284	5256236	1275	53486											
DIDO1	11083	broad.mit.edu	37	chr20	61512442	61512442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccccgctgggggcttttcGcccgaagcccagggggaaga	16	13	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:61512442G>A	uc002ydr.1	-	16	5130	c.4866C>T	c.(4864-4866)GGC>GGT	p.G1622G	DIDO1_uc002yds.1_Silent_p.G1622G	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1622					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GGGGCTTTTCGCCCGAAGCCC	0.716													A	61512442	G	A	61512442	2	1	75	1	0	0	0	0	0	0	0	1	4522	1074	38	1		1	DIDO1	20	61512442	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	3743158	61512442	1513078	1276	53487											
BIRC7	79444	broad.mit.edu	37	chr20	61869290	61869290	+	Frame_Shift_Del	DEL	G	G	-													tgaggtgcttcttctgctatGggggcctgcagagctggaag							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:61869289_61869289TG>T	uc002yej.3	+	1	557	c.384_384TG>T	c.(382-384)tatfs	p.Y128fs	BIRC7_uc010gkc.1_Frame_Shift_Del_p.Y128fs|BIRC7_uc002yei.3_Frame_Shift_Del_p.Y128fs|MIR3196_uc021wga.1_5'Flank	NM_139317	NP_647478	Q96CA5	BIRC7_HUMAN	Homo sapiens baculoviral IAP repeat containing 7 (BIRC7), transcript variant 1, mRNA.	128					DNA fragmentation involved in apoptotic nuclear change|activation of JUN kinase activity|anti-apoptosis	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					TCTTCTGCTATGGGGGCCTGC	0.692													-	61869290	G	-	61869290	7	5	75	1	0	1	0	1	0	0	0	0	1439	1348	47	0	391	0	BIRC7	20	61869290	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	356848	61869290	1156230	1277	53488											
KCNQ2	3785	broad.mit.edu	37	chr20	62076690	62076690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccgcacgaagtactccaCgccaaacaccacgatagtca	7	15	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:62076690C>T	uc002yey.1	-	3	592	c.415G>A	c.(415-417)GTG>ATG	p.V139M	KCNQ2_uc002yez.1_Missense_Mutation_p.V139M|KCNQ2_uc002yfa.1_Missense_Mutation_p.V139M|KCNQ2_uc002yfb.1_Missense_Mutation_p.V139M|KCNQ2_uc011aax.1_Missense_Mutation_p.V139M|KCNQ2_uc002yfc.1_Missense_Mutation_p.V139M	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	139	Helical; Name=Segment S2; (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	AAGTACTCCACGCCAAACACC	0.647													T	62076690	C	T	62076690	3	4	75	1	0	0	0	0	1	0	0	0	8083	536	19	1	2327	1	KCNQ2	20	62076690	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	207400	62076690	948830	1278	53489											
UCKL1	54963	broad.mit.edu	37	chr20	62576024	62576024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcgctcactgatgtcccGgcgcagccgccgtaccaggc	13	18	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:62576024G>A	uc010gkn.2	-	6	761	c.718C>T	c.(718-720)CGG>TGG	p.R240W	UCKL1_uc002yhj.2_5'Flank|UCKL1_uc011abm.1_Missense_Mutation_p.R225W|UCKL1_uc011abn.1_RNA|UCKL1_uc011abo.1_RNA|MIR647_hsa-mir-647|MI0003662_5'Flank	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	240					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CTGATGTCCCGGCGCAGCCGC	0.607													A	62576024	G	A	62576024	3	1	75	1	0	0	0	0	1	0	0	0	16922	1115	39	1	968	1	UCKL1	20	62576024	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	499334	62576024	449496	1279	53490											
MYT1	4661	broad.mit.edu	37	chr20	62837074	62837074	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggacgcctctgtttcggaTgaatcggaaggaactctgga	13	8	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:62837074T>C	uc002yii.2	+	6	682	c.318T>C	c.(316-318)GAT>GAC	p.D106D	MYT1_uc002yih.2_Silent_p.D106D|MYT1_uc002yij.2_5'Flank	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	106					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CTGTTTCGGATGAATCGGAAG	0.587													C	62837074	T	C	62837074	2	2	75	1	0	0	0	0	0	0	0	1	10106	1461	51	3		3	MYT1	20	62837074	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	261050	62837074	188446	1280	53491											
NRIP1	8204	broad.mit.edu	37	chr21	16338052	16338052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgattttgtcttagcaatCgacttagcagaccattcttg	7	9	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:16338052C>T	uc002yjx.2	-	4	3060	c.2462G>A	c.(2461-2463)CGA>CAA	p.R821Q		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	821	Repression domain 3.|LXXLL motif 8.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TCTTAGCAATCGACTTAGCAG	0.423													T	16338052	C	T	16338052	3	4	75	1	0	0	0	0	1	0	0	0	10652	884	31	1	1018	1	NRIP1	21	16338052	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08		16338052	31791843	1281	53492											
MRPL39	54148	broad.mit.edu	37	chr21	26979747	26979747	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccaccgggtgcgaccagcCagagccgcagcgcccgggaa	15	17	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:26979747C>T	uc002ylo.2	-	1	55	c.41G>A	c.(40-42)TGG>TAG	p.W14*	MRPL39_uc002yln.2_Nonsense_Mutation_p.W14*	NM_017446	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39 isoform a	14						mitochondrial ribosome	nucleotide binding				0						TGCGACCAGCCAGAGCCGCAG	0.642											OREG0026146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	26979747	C	T	26979747	4	4	75	1	0	0	0	0	0	1	0	0	9802	595	21	4	1108	4	MRPL39	21	26979747	Nonsense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	10641695	26979747	21150148	1282	53493											
ADAMTS5	11096	broad.mit.edu	37	chr21	28306794	28306794	+	Frame_Shift_Del	DEL	T	T	-													aaatcacttactgaataataTtttttcttggttttgtccac							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:28306793_28306793AT>A	uc002ymg.3	-	3	2410	c.1681_1681AT>T	c.(1681-1683)tatfs	p.Y561fs		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	561	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						ACTGAATAATATTTTTTCTTG	0.478													-	28306794	T	-	28306794	7	5	75	1	0	1	0	1	0	0	0	0	269	1490	52	0	1132	0	ADAMTS5	21	28306794	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	1327047	28306794	19823101	1283	53494											
BACH1	571	broad.mit.edu	37	chr21	30714967	30714967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattttcagtttatctgaccGgcctccagcagtgctgcctc	8	13	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:30714967G>A	uc002ynj.2	+	5	2139	c.2024G>A	c.(2023-2025)CGG>CAG	p.R675Q	BACH1_uc002ynk.2_Missense_Mutation_p.R675Q|BACH1_uc002ynl.2_Intron	NM_001186	NP_001177	O14867	BACH1_HUMAN	BTB and CNC homology 1 transcription factor	675						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|liver(1)	2						TTATCTGACCGGCCTCCAGCA	0.507													A	30714967	G	A	30714967	3	1	75	1	0	0	0	0	1	0	0	0	1283	1116	39	1	2038	1	BACH1	21	30714967	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2408173	30714967	17414928	1284	53495											
KRTAP26-1	388818	broad.mit.edu	37	chr21	31691902	31691902	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttttggggctggcaactcTtggacaagcagaattggggg	17	6	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:31691902T>G	uc002ynw.2	-	1	706	c.452A>C	c.(451-453)AAG>ACG	p.K151T		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	151						intermediate filament				ovary(1)	1						CTGGCAACTCTTGGACAAGCA	0.562													G	31691902	T	G	31691902	3	3	75	1	0	0	0	0	1	0	0	0	8543	1609	56	5	184	5	KRTAP26-1	21	31691902	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	976935	31691902	16437993	1285	53496											
TIAM1	7074	broad.mit.edu	37	chr21	32493037	32493037	+	Frame_Shift_Del	DEL	G	G	-													cggtcagtgtccccaccaccGgggggctgctgggactcttt					rs143258724		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:32493036_32493036CG>C	uc002yow.1	-	28	4898	c.4426_4426CG>G	c.(4426-4428)ggtfs	p.G1476fs	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Frame_Shift_Del_p.G1416fs	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1476					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCCCCACCACCGGGGGGCTGC	0.567													-	32493037	G	-	32493037	7	5	75	1	0	1	0	1	0	0	0	0	15887	1103	39	0	354	0	TIAM1	21	32493037	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	801135	32493037	15636858	1286	53497											
HUNK	30811	broad.mit.edu	37	chr21	33318443	33318443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctgcacctgaactgctcGccaggaagaaatacggcccc	10	15	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:33318443G>A	uc002yph.2	+	4	1066	c.706G>A	c.(706-708)GCC>ACC	p.A236T		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase	236	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2						TGAACTGCTCGCCAGGAAGAA	0.542													A	33318443	G	A	33318443	3	1	75	1	0	0	0	0	1	0	0	0	7458	1087	38	1	720	1	HUNK	21	33318443	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	825406	33318443	14811452	1287	53498											
IFNAR1	3454	broad.mit.edu	37	chr21	34721569	34721569	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acacatctttttggtctgaaGagataaagtttgatactgaa	8	5	2	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:34721569G>T	uc002yrn.2	+	7	1108	c.961G>T	c.(961-963)GAG>TAG	p.E321*	IFNAR1_uc011adv.1_Nonsense_Mutation_p.E252*	NM_000629	NP_000620	P17181	INAR1_HUMAN	interferon-alpha receptor 1 precursor	321	Fibronectin type-III 2.|Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			central_nervous_system(1)|skin(1)	2					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TTGGTCTGAAGAGATAAAGTT	0.343													T	34721569	G	T	34721569	4	4	75	1	0	0	0	0	0	1	0	0	7544	943	33	5	987	5	IFNAR1	21	34721569	Nonsense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1403126	34721569	13408326	1288	53499											
HLCS	3141	broad.mit.edu	37	chr21	38308845	38308845	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtggccctggagcctgccGgggctgagccggacggggcc	20	13	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:38308845G>T	uc010gnb.2	-	4	2101	c.900C>A	c.(898-900)CCC>CCA	p.P300P	HLCS_uc002yvs.2_Silent_p.P300P|HLCS_uc010gnc.1_Silent_p.P447P	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	300					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GGAGCCTGCCGGGGCTGAGCC	0.592													T	38308845	G	T	38308845	2	4	75	1	0	0	0	0	0	0	0	1	7213	1103	39	5		5	HLCS	21	38308845	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	3587276	38308845	9821050	1289	53500											
DSCR4	10281	broad.mit.edu	37	chr21	39493330	39493330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggggttcatcatctctcGtcaagatgattaacgacatg	9	10	4	2	rs148504310		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:39493330G>A	uc002ywp.2	-	1	125	c.20C>T	c.(19-21)ACG>ATG	p.T7M	DSCR8_uc002ywt.3_5'Flank|DSCR8_uc010gnp.2_5'Flank|DSCR8_uc010gnq.2_5'Flank|DSCR8_uc010gnr.2_5'Flank|DSCR8_uc010gns.2_5'Flank	NM_005867	NP_005858	P56555	DSCR4_HUMAN	Down syndrome critical region protein 4	7										ovary(1)	1						atcatctctcgtcaagatgat	0													A	39493330	G	A	39493330	3	1	75	1	0	0	0	0	1	0	0	0	4772	1145	40	1	348	1	DSCR4	21	39493330	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1184485	39493330	8636565	1290	53501											
KCNJ15	3772	broad.mit.edu	37	chr21	39671647	39671647	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagttggtcatcacgacctTgattgagatcttcatcaccg	8	11	6	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:39671647T>C	uc002ywv.2	+	4	766	c.464T>C	c.(463-465)TTG>TCG	p.L155S	KCNJ15_uc002yww.2_Missense_Mutation_p.L155S|KCNJ15_uc002ywx.2_Missense_Mutation_p.L155S	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	155	Helical; Name=M2; (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						ATCACGACCTTGATTGAGATC	0.512													C	39671647	T	C	39671647	3	2	75	1	0	0	0	0	1	0	0	0	8049	1821	63	3	466	3	KCNJ15	21	39671647	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	178317	39671647	8458248	1291	53502											
ETS2	2114	broad.mit.edu	37	chr21	40181960	40181960	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttcttttttaagaTgaatgatttcggaatcaaga	6	3	2	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:40181960T>C	uc002yxg.2	+	2	198	c.2T>C	c.(1-3)ATG>ACG	p.M1T	ETS2_uc002yxf.2_Missense_Mutation_p.M141T	NM_005239	NP_005230	P15036	ETS2_HUMAN	v-ets erythroblastosis virus E26 oncogene	1					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)|pancreas(1)	4		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TTTTTTAAGATGAATGATTTC	0.383													C	40181960	T	C	40181960	3	2	75	1	0	0	0	0	1	0	0	0	5276	1478	51	3	4	3	ETS2	21	40181960	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	510313	40181960	7947935	1292	53503											
ZNF295	49854	broad.mit.edu	37	chr21	43411690	43411690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtcgtcttttgtggtgaCgatgtggtttactttgttgg	14	4	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:43411690C>T	uc002zab.3	-	3	2729	c.2515G>A	c.(2515-2517)GTC>ATC	p.V839I	ZNF295_uc002yzz.3_Missense_Mutation_p.V638I|ZNF295_uc002yzy.3_Missense_Mutation_p.V839I|ZNF295_uc002zaa.3_Missense_Mutation_p.V839I	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	839					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						TTTGTGGTGACGATGTGGTTT	0.463													T	43411690	C	T	43411690	3	4	75	1	0	0	0	0	1	0	0	0	17824	536	19	1	689	1	ZNF295	21	43411690	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3229730	43411690	4718205	1293	53504											
UBASH3A	53347	broad.mit.edu	37	chr21	43863456	43863456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtccgccctcatgccggccGagagctaccaggagtacatg	12	14	1	1	rs116752327	by1000genomes	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:43863456G>A	uc002zbe.2	+	13	1702	c.1666G>A	c.(1666-1668)GAG>AAG	p.E556K	UBASH3A_uc002zbf.2_Missense_Mutation_p.E518K|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Intron	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	556	Phosphatase-like.					cytosol|nucleus				ovary(3)	3						CATGCCGGCCGAGAGCTACCA	0.587													A	43863456	G	A	43863456	3	1	75	1	0	0	0	0	1	0	0	0	16836	1059	37	1	1716	1	UBASH3A	21	43863456	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	451766	43863456	4266439	1294	53505											
PKNOX1	5316	broad.mit.edu	37	chr21	44448975	44448975	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccgccgagcgagctcaccAtgtcggaaggtacaggtggc	14	13	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:44448975A>G	uc002zcq.1	+	10	1278	c.1090A>G	c.(1090-1092)ATG>GTG	p.M364V	PKNOX1_uc002zcp.1_Missense_Mutation_p.M364V|PKNOX1_uc011aex.1_Missense_Mutation_p.M247V	NM_004571	NP_004562	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	364							sequence-specific DNA binding			large_intestine(2)	2						CGAGCTCACCATGTCGGAAGG	0.552													G	44448975	A	G	44448975	3	3	75	1	0	0	0	0	1	0	0	0	11982	217	8	3	1124	3	PKNOX1	21	44448975	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	585519	44448975	3680920	1295	53506											
SIK1	150094	broad.mit.edu	37	chr21	44836942	44836942	+	Frame_Shift_Del	DEL	G	G	-													aaacggggcaggggccggctGgggggcctgggagcagccgg							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:44836942delG	uc002zdf.2	-	14	2159	c.2032delC	c.(2032-2034)CAGfs	p.Q678fs		NM_173354	NP_775490	P57059	SIK1_HUMAN	salt-inducible kinase 1	678					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1)	7						GGGGCCGGCTGGGGGGCCTGG	0.736													-	44836942	G	-	44836942	7	5	75	1	0	1	0	1	0	0	0	0	14317	1357	47	0	323	0	SIK1	21	44836942	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	387967	44836942	3292953	1296	53507											
C21orf33	8209	broad.mit.edu	37	chr21	45563112	45563112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcattgcacctgtcctcGcggccaaggtgctcagaggc	13	14	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:45563112G>A	uc002zec.3	+	6	633	c.547G>A	c.(547-549)GCG>ACG	p.A183T	C21orf33_uc002zed.3_Missense_Mutation_p.A152T	NM_004649	NP_004640	P30042	ES1_HUMAN	es1 protein isoform Ia precursor	183						mitochondrion				ovary(1)	1				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		ACCTGTCCTCGCGGCCAAGGT	0.612													A	45563112	G	A	45563112	3	1	75	1	0	0	0	0	1	0	0	0	2125	1087	38	1	569	1	C21orf33	21	45563112	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	726170	45563112	2566783	1297	53508											
ICOSLG	23308	broad.mit.edu	37	chr21	45655413	45655413	+	Frame_Shift_Del	DEL	G	G	-													ctcatcctgggaggggctgtGgggggcgctgacgacgggca							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:45655412_45655412TG>T	uc010gpp.1	-	3	574	c.440_440CA>A	c.(439-441)cacfs	p.H147fs	ICOSLG_uc002zef.3_Frame_Shift_Del_p.H30fs|ICOSLG_uc002zee.3_Frame_Shift_Del_p.H147fs|ICOSLG_uc011afc.2_Frame_Shift_Del_p.H57fs	NM_015259	NP_056074	O75144	ICOSL_HUMAN	Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.	147	Ig-like C2-type.				B cell activation|T cell activation|T cell costimulation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GGAGGGGCTGTGGGGGGCGCT	0.577													-	45655413	G	-	45655413	7	5	75	1	0	1	0	1	0	0	0	0	7487	1348	47	0	485	0	ICOSLG	21	45655413	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	92301	45655413	2474482	1298	53509											
ICOSLG	23308	broad.mit.edu	37	chr21	45657075	45657075	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccacgtcgctgcctaccatCgctctgacttccttctcctg	6	18	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:45657075C>T	uc002zee.2	-	3	215	c.81G>A	c.(79-81)GCG>GCA	p.A27A	ICOSLG_uc011afc.1_Intron|ICOSLG_uc002zef.2_Intron|ICOSLG_uc010gpp.1_Silent_p.A27A	NM_015259	NP_056074	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand precursor	27	Ig-like V-type.|Extracellular (Potential).				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding				0				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TGCCTACCATCGCTCTGACTT	0.498													T	45657075	C	T	45657075	2	4	75	1	0	0	0	0	0	0	0	1	7487	871	31	1		1	ICOSLG	21	45657075	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1662	45657075	2472820	1299	53510											
POFUT2	23275	broad.mit.edu	37	chr21	46702346	46702346	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggagacgtttagaccccTggtctcctcataaccccaaa	7	14	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:46702346T>C	uc002zhc.2	-	4	581	c.556A>G	c.(556-558)AGG>GGG	p.R186G	POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Missense_Mutation_p.R186G|POFUT2_uc011afp.1_Missense_Mutation_p.R186G	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2 isoform C	186					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity				0				Colorectal(79;0.243)		TTTAGACCCCTGGTCTCCTCA	0.532													C	46702346	T	C	46702346	3	2	75	1	0	0	0	0	1	0	0	0	12184	1579	55	3	896	3	POFUT2	21	46702346	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1045271	46702346	1427549	1300	53511											
S100B	6285	broad.mit.edu	37	chr21	48019327	48019327	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagtaaccatggcaacaaaGgccatgaattcctggaagtc	10	9	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:48019327G>T	uc002zju.1	-	3	339	c.228C>A	c.(226-228)GCC>GCA	p.A76A	S100B_uc002zjv.1_3'UTR	NM_006272	NP_006263	P04271	S100B_HUMAN	S100 calcium-binding protein, beta	76	EF-hand 2.				axonogenesis|cell proliferation|central nervous system development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular region|nucleus|perinuclear region of cytoplasm|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|RAGE receptor binding|S100 beta binding|tau protein binding|zinc ion binding				0	Breast(49;0.247)	Lung NSC(3;0.245)		OV - Ovarian serous cystadenocarcinoma(3;1.84e-06)|Epithelial(3;4.45e-06)|all cancers(3;2.07e-05)|Colorectal(79;0.241)		TGGCAACAAAGGCCATGAATT	0.458													T	48019327	G	T	48019327	2	4	75	1	0	0	0	0	0	0	0	1	13788	987	35	5		5	S100B	21	48019327	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1316981	48019327	110568	1301	53512											
SLC25A18	83733	broad.mit.edu	37	chr22	18064145	18064145	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgactgcctgatgaagacGgctcgggcggagggcttctt	15	10	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:18064145G>A	uc002zmp.1	+	5	659	c.165G>A	c.(163-165)ACG>ACA	p.T55T	SLC25A18_uc010gqx.2_Silent_p.T55T|SLC25A18_uc002zmq.1_Silent_p.T55T	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN	solute carrier	55	Solcar 1.					integral to membrane|mitochondrial inner membrane	binding|symporter activity				0				Lung(27;0.124)	L-Glutamic Acid(DB00142)	TGATGAAGACGGCTCGGGCGG	0.652													A	18064145	G	A	18064145	2	1	75	1	0	0	0	0	0	0	0	1	14480	1103	39	1		1	SLC25A18	22	18064145	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08		18064145	33240421	1302	53513											
MICAL3	57553	broad.mit.edu	37	chr22	18389447	18389447	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatagaaggagcggtagtcCtttggctttagttccaggtg	14	6	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:18389447C>A	uc002zng.3	-	2	485	c.132G>T	c.(130-132)AAG>AAT	p.K44N	MICAL3_uc011agl.1_Missense_Mutation_p.K44N|MICAL3_uc002znh.2_Missense_Mutation_p.K44N|MICAL3_uc002znk.1_Missense_Mutation_p.K44N|MICAL3_uc002znl.1_Translation_Start_Site|MICAL3_uc010grf.2_Missense_Mutation_p.K44N|MICAL3_uc011agm.1_Missense_Mutation_p.K44N	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	44						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		AGCGGTAGTCCTTTGGCTTTA	0.522													A	18389447	C	A	18389447	3	1	75	1	0	0	0	0	1	0	0	0	9571	680	24	5	6737	5	MICAL3	22	18389447	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	325302	18389447	32915119	1303	53514											
ARVCF	421	broad.mit.edu	37	chr22	19965081	19965081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgtggtaggacaggttcCgcatgatgcacacgcagttc	13	11	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:19965081C>T	uc002zqz.2	-	9	1998	c.1727G>A	c.(1726-1728)CGG>CAG	p.R576Q	ARVCF_uc002zqy.2_Missense_Mutation_p.R98Q	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	576	ARM 6.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					GGACAGGTTCCGCATGATGCA	0.687													T	19965081	C	T	19965081	3	4	75	1	0	0	0	0	1	0	0	0	1003	652	23	1	1205	1	ARVCF	22	19965081	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1575634	19965081	31339485	1304	53515											
DGCR8	54487	broad.mit.edu	37	chr22	20094896	20094896	+	Frame_Shift_Del	DEL	G	G	-													tttactgcgcatgtatggccGtgagagcagcaagatggtca							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:20094895_20094895CG>C	uc002zri.3	+	11	2527	c.2098_2098CG>C	c.(2098-2100)cgtfs	p.R700fs	DGCR8_uc010grz.3_Frame_Shift_Del_p.R667fs|DGCR8_uc002zrj.3_Frame_Shift_Del_p.R343fs	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	700	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	p.R700L(1)		NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CATGTATGGCCGTGAGAGCAG	0.547													-	20094896	G	-	20094896	7	5	75	1	0	1	0	1	0	0	0	0	4464	1145	40	0	2141	0	DGCR8	22	20094896	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	129815	20094896	31209670	1305	53516											
ZDHHC8	29801	broad.mit.edu	37	chr22	20130875	20130875	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccgactcactcttcggCgactcaggcgtctatgacgc	11	15	4	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:20130875C>T	uc002zrq.2	+	10	1828	c.1722C>T	c.(1720-1722)GGC>GGT	p.G574G	ZDHHC8_uc002zrr.1_Silent_p.G574G|ZDHHC8_uc010gsa.2_Silent_p.G380G	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	574	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					CACTCTTCGGCGACTCAGGCG	0.662													T	20130875	C	T	20130875	2	4	75	1	0	0	0	0	0	0	0	1	17618	755	27	1		1	ZDHHC8	22	20130875	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	35979	20130875	31173691	1306	53517											
SCARF2	91179	broad.mit.edu	37	chr22	20786261	20786261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccagccagcgcagcacGtgggcacctgggagctgcga	15	15	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:20786261G>A	uc002zsj.1	-	2	293	c.188C>T	c.(187-189)ACG>ATG	p.T63M	SCARF2_uc002zsk.1_Missense_Mutation_p.T63M	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2 isoform 1	63	Extracellular (Potential).				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGCGCAGCACGTGGGCACCTG	0.721													A	20786261	G	A	20786261	3	1	75	1	0	0	0	0	1	0	0	0	13884	1145	40	1	2464	1	SCARF2	22	20786261	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	655386	20786261	30518305	1307	53518											
AIFM3	150209	broad.mit.edu	37	chr22	21322261	21322261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttctccaaacccaaacCaggtacctcctgtcttcttg	5	16	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:21322261C>T	uc002ztj.2	+	2	247	c.29C>T	c.(28-30)CCA>CTA	p.P10L	AIFM3_uc002ztk.2_Missense_Mutation_p.P10L|AIFM3_uc002ztl.2_Missense_Mutation_p.P10L|AIFM3_uc011ahx.1_Nonsense_Mutation_p.Q35*	NM_144704	NP_653305	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor,	10					activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport	endoplasmic reticulum|mitochondrial inner membrane	2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding			ovary(2)|lung(2)	4	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AAACCCAAACCAGGTACCTCC	0.493													T	21322261	C	T	21322261	3	4	75	1	0	0	0	0	1	0	0	0	428	594	21	4	31	4	AIFM3	22	21322261	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	536000	21322261	29982305	1308	53519											
SLC7A4	6545	broad.mit.edu	37	chr22	21384146	21384146	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaaagacaagcacgcagcCtatggtgatggctgaggcca	12	12	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:21384146C>A	uc002zud.2	-	3	1545	c.1477G>T	c.(1477-1479)GGC>TGC	p.G493C	SLC7A4_uc002zue.2_Missense_Mutation_p.G493C	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	493	Helical; (Potential).				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGCACGCAGCCTATGGTGATG	0.597													A	21384146	C	A	21384146	3	1	75	1	0	0	0	0	1	0	0	0	14699	681	24	5	442	5	SLC7A4	22	21384146	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	61885	21384146	29920420	1309	53520											
RAB36	9609	broad.mit.edu	37	chr22	23503094	23503094	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaggcattcttcagccgCgtagccgccctggcattcga	12	13	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:23503094C>T	uc002zwv.1	+	10	886	c.846C>T	c.(844-846)CGC>CGT	p.R282R	RAB36_uc010gtw.1_Silent_p.R260R	NM_004914	NP_004905	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	282					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)		TCTTCAGCCGCGTAGCCGCCC	0.592													T	23503094	C	T	23503094	2	4	75	1	0	0	0	0	0	0	0	1	12926	755	27	1		1	RAB36	22	23503094	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2118948	23503094	27801472	1310	53521											
ZNF70	7621	broad.mit.edu	37	chr22	24086127	24086127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgagggctgaccggtgccGgaaggctttgccacactcgc	14	12	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:24086127G>A	uc002zxs.2	-	2	1662	c.1201C>T	c.(1201-1203)CGG>TGG	p.R401W	ZNF70_uc002zxr.1_5'Flank	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	401	C2H2-type 10.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						GACCGGTGCCGGAAGGCTTTG	0.587													A	24086127	G	A	24086127	3	1	75	1	0	0	0	0	1	0	0	0	18100	1115	39	1	143	1	ZNF70	22	24086127	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	583033	24086127	27218439	1311	53522											
GGT5	2687	broad.mit.edu	37	chr22	24629866	24629866	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacattgtagatggtgaAgatgacccctccgcccaggc	11	12	1	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:24629866A>T	uc002zzo.3	-	2	697	c.280T>A	c.(280-282)TTC>ATC	p.F94I	GGT5_uc002zzp.3_Missense_Mutation_p.F94I|GGT5_uc002zzr.3_Missense_Mutation_p.F94I|GGT5_uc002zzq.3_Missense_Mutation_p.F94I|GGT5_uc011ajm.1_Intron|GGT5_uc011ajn.1_Intron	NM_004121	NP_004112	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5 isoform b	94	Extracellular (Potential).				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(2)|skin(1)	3						TAGATGGTGAAGATGACCCCT	0.617													T	24629866	A	T	24629866	3	4	75	1	0	0	0	0	1	0	0	0	6362	72	3	5	1527	5	GGT5	22	24629866	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	543739	24629866	26674700	1312	53523											
C22orf36	388886	broad.mit.edu	37	chr22	24982323	24982323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgtcgacagcgggatgCctgagaggtccacagtctcc	13	13	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:24982323C>T	uc003aaq.2	-	4	508	c.479G>A	c.(478-480)GGC>GAC	p.G160D	GGT1_uc003aan.1_Intron|C22orf36_uc003aao.2_RNA|C22orf36_uc003aap.2_RNA	NM_207644	NP_997527	Q2VPJ9	LRC6X_HUMAN	hypothetical protein LOC388886	160											0						CAGCGGGATGCCTGAGAGGTC	0.617													T	24982323	C	T	24982323	3	4	75	1	0	0	0	0	1	0	0	0	2146	739	26	2	472	2	C22orf36	22	24982323	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	352457	24982323	26322243	1313	53524											
CCDC117	150275	broad.mit.edu	37	chr22	29169749	29169749	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaagaaacacaagcgagaGgaggaggaggatgatgagta	15	3	0	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:29169749G>A	uc003aeb.2	+	2	398	c.222G>A	c.(220-222)GAG>GAA	p.E74E	CCDC117_uc011aki.1_Intron|CCDC117_uc011akj.1_Silent_p.E74E|CCDC117_uc011akk.1_5'UTR	NM_173510	NP_775781	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	74										breast(1)	1						ACAAGCGAGAGGAGGAGGAGG	0.378													A	29169749	G	A	29169749	2	1	75	1	0	0	0	0	0	0	0	1	2754	991	35	4		4	CCDC117	22	29169749	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	4187426	29169749	22134817	1314	53525											
AP1B1	162	broad.mit.edu	37	chr22	29750678	29750678	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgttgcgcagggccacaTactgcagctctggctcggct	13	12	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:29750678T>C	uc003afj.2	-	7	1083	c.899A>G	c.(898-900)TAT>TGT	p.Y300C	AP1B1_uc003afi.2_Missense_Mutation_p.Y300C|AP1B1_uc003afk.2_Missense_Mutation_p.Y300C|AP1B1_uc003afl.2_Missense_Mutation_p.Y300C	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	300					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						CAGGGCCACATACTGCAGCTC	0.572													C	29750678	T	C	29750678	3	2	75	1	0	0	0	0	1	0	0	0	731	1406	49	3	2018	3	AP1B1	22	29750678	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	580929	29750678	21553888	1315	53526											
SMTN	6525	broad.mit.edu	37	chr22	31487726	31487726	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgggggcaagagcaccAtcacccgtgtcaacagccct	12	13	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:31487726A>G	uc003ajl.1	+	11	1743	c.1525A>G	c.(1525-1527)ATC>GTC	p.I509V	SMTN_uc003ajk.1_Missense_Mutation_p.I509V|SMTN_uc003ajm.1_Missense_Mutation_p.I509V|SMTN_uc011ale.1_Missense_Mutation_p.I563V|SMTN_uc011alf.1_Missense_Mutation_p.I565V|SMTN_uc003ajn.1_Missense_Mutation_p.I501V|SMTN_uc011alg.1_Intron|SMTN_uc003ajo.1_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.1_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	509					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						CAAGAGCACCATCACCCGTGT	0.647													G	31487726	A	G	31487726	3	3	75	1	0	0	0	0	1	0	0	0	14814	217	8	3	1563	3	SMTN	22	31487726	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1737048	31487726	19816840	1316	53527											
DEPDC5	9681	broad.mit.edu	37	chr22	32241050	32241050	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacccgcttcctgctgctgCcagcctgtgtcaccgccacc	10	19	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:32241050C>A	uc003als.2	+	30	2963	c.2821C>A	c.(2821-2823)CCA>ACA	p.P941T	DEPDC5_uc011als.1_Missense_Mutation_p.P872T|DEPDC5_uc011alu.1_Missense_Mutation_p.P950T|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.P941T|DEPDC5_uc003alu.2_Missense_Mutation_p.P390T|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.P271T|DEPDC5_uc003alw.2_Missense_Mutation_p.P239T|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_5'UTR	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	941					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						CCTGCTGCTGCCAGCCTGTGT	0.587													A	32241050	C	A	32241050	3	1	75	1	0	0	0	0	1	0	0	0	4442	739	26	5	2953	5	DEPDC5	22	32241050	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	753324	32241050	19063516	1317	53528											
MYH9	4627	broad.mit.edu	37	chr22	36745257	36745257	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttttatccacatagagatActtatcggcagcttgctgtg	9	8	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:36745257A>G	uc003apg.2	-	2	256	c.25T>C	c.(25-27)TAT>CAT	p.Y9H	MYH9_uc003api.1_Missense_Mutation_p.Y9H	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	9	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						ACATAGAGATACTTATCGGCA	0.507			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				G	36745257	A	G	36745257	3	3	75	1	0	0	0	0	1	0	0	0	10042	391	14	3	6017	3	MYH9	22	36745257	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	4504207	36745257	14559309	1318	53529											
EIF3D	8664	broad.mit.edu	37	chr22	36916708	36916708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcacttcccaatcactacGaacttcaactgaagagtctc	4	13	4	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:36916708G>A	uc003apq.2	-	7	609	c.493C>T	c.(493-495)CGT>TGT	p.R165C	EIF3D_uc011amr.1_5'UTR|EIF3D_uc003apr.2_Missense_Mutation_p.R165C|EIF3D_uc011ams.1_Missense_Mutation_p.R68C|EIF3D_uc011amt.1_Missense_Mutation_p.R116C	NM_003753	NP_003744	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3	165						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			pancreas(1)	1						CAATCACTACGAACTTCAACT	0.383													A	36916708	G	A	36916708	3	1	75	1	0	0	0	0	1	0	0	0	5014	1058	37	1	1189	1	EIF3D	22	36916708	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	171451	36916708	14387858	1319	53530											
DMC1	11144	broad.mit.edu	37	chr22	38948670	38948670	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgttgttatatatccttaCcacagagggtatgagaaagc	9	6	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:38948670C>T	uc003avz.1	-	7	596	c.421_splice	c.e7+1	p.V141_splice	DMC1_uc011anv.1_Splice_Site_p.G141_splice|DMC1_uc003awa.1_Splice_Site_p.V141_splice	NM_007068	NP_008999	Q14565	DMC1_HUMAN	DMC1 dosage suppressor of mck1 homolog						reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			ovary(1)	1	Melanoma(58;0.0286)					TATATCCTTACCACAGAGGGT	0.289								Homologous_recombination					T	38948670	C	T	38948670	5	4	75	1	0	0	0	0	0	0	1	0	4579	521	18	4	632	4	DMC1	22	38948670	Splice_Site	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2031962	38948670	12355896	1320	53531											
TNRC6B	23112	broad.mit.edu	37	chr22	40657998	40657998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcctcgggaggtgccgcCgcgattccgttgccagcagg	15	14	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:40657998C>T	uc011aor.1	+	4	489	c.278C>T	c.(277-279)CCG>CTG	p.P93L	TNRC6B_uc003aym.2_Missense_Mutation_p.P129L|TNRC6B_uc003ayn.3_Missense_Mutation_p.P93L|TNRC6B_uc003ayo.2_5'Flank	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	93					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						GAGGTGCCGCCGCGATTCCGT	0.647													T	40657998	C	T	40657998	3	4	75	1	0	0	0	0	1	0	0	0	16338	652	23	1	413	1	TNRC6B	22	40657998	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1709328	40657998	10646568	1321	53532											
FAM109B	150368	broad.mit.edu	37	chr22	42473377	42473378	+	Frame_Shift_Ins	INS	-	-	G													atgggcttcctgcgcacctgINSggggggcccagggaccccac							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:42473376_42473377T>TG	uc003bbz.3	+	2	266_267	c.79_80T>TG	c.(79-81)tggfs	p.W27fs	FAM109B_uc021wqi.1_Frame_Shift_Ins_p.W27fs|C22orf32_uc003bca.3_5'Flank	NM_001002034	NP_001002034	Q6ICB4	SESQ2_HUMAN	Homo sapiens family with sequence similarity 109, member B (FAM109B), mRNA.	27	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						CCTGCGCACCTGGGGGGGCCCA	0.634													G	42473378	-	G	42473377	7	5	75	1	0	1	1	0	0	0	0	0	5395	1357	47	0	82	0	FAM109B	22	42473377	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	1815379	42473377	8831189	1322	53533											
CYP2D6	1565	broad.mit.edu	37	chr22	42524948	42524949	+	Splice_Site	INS	-	-	G													tggggcgaaaggggcgtcctINSgggggtgggagatgcgggta							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:42524948_42524949insG	uc003bce.2	-	4	596	c.506_splice	c.e4-1	p.G169_splice	uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Splice_Site|CYP2D6_uc003bcf.2_Splice_Site_p.G118_splice	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,								electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			breast(1)|skin(1)	2						AGGGGCGTCCTGGGGGTGGGAG	0.668													G	42524949	-	G	42524948	8	5	75	1	0	1	1	0	0	0	1	0	4169	1594	55	0	1013	0	CYP2D6	22	42524948	Splice_Site	INS	-	TCGA-BR-8363-01A-11D-2340-08	51571	42524948	8779618	1323	53534											
TTLL12	23170	broad.mit.edu	37	chr22	43569788	43569788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacgtgggtgtccaggctgCgcgccaggttccagggcttg	17	11	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:43569788C>T	uc003bdq.2	-	9	1306	c.1274G>A	c.(1273-1275)CGC>CAC	p.R425H	TTLL12_uc003bdr.1_Missense_Mutation_p.R425H	NM_015140	NP_055955	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	425	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)	1		Ovarian(80;0.221)|Glioma(61;0.222)				GTCCAGGCTGCGCGCCAGGTT	0.682													T	43569788	C	T	43569788	3	4	75	1	0	0	0	0	1	0	0	0	16722	768	27	1	684	1	TTLL12	22	43569788	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1044840	43569788	7734778	1324	53535											
PARVB	29780	broad.mit.edu	37	chr22	44547380	44547380	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagtctctcatcacttttgtGaacaagcacctgaacaagct	6	12	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:44547380G>A	uc003ben.2	+	10	844	c.792G>A	c.(790-792)GTG>GTA	p.V264V	PARVB_uc003bem.2_Silent_p.V297V|PARVB_uc010gzn.2_Intron|PARVB_uc003beo.2_Silent_p.V227V	NM_013327	NP_037459	Q9HBI1	PARVB_HUMAN	parvin, beta isoform b	264	CH 2.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding				0		Ovarian(80;0.0246)|all_neural(38;0.0423)				TCACTTTTGTGAACAAGCACC	0.512													A	44547380	G	A	44547380	2	1	75	1	0	0	0	0	0	0	0	1	11469	1277	45	4		4	PARVB	22	44547380	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	977592	44547380	6757186	1325	53536											
TBC1D22A	25771	broad.mit.edu	37	chr22	47188435	47188435	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcatccagcacgtgtatggTgcccagcaccccccctttga	9	16	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:47188435T>C	uc003bib.2	+	2	216	c.81T>C	c.(79-81)GGT>GGC	p.G27G	TBC1D22A_uc010haf.2_5'UTR|TBC1D22A_uc003bic.2_Silent_p.G27G|TBC1D22A_uc003bie.2_Intron|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_5'UTR	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	27						intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		ACGTGTATGGTGCCCAGCACC	0.572													C	47188435	T	C	47188435	2	2	75	1	0	0	0	0	0	0	0	1	15608	1683	59	3		3	TBC1D22A	22	47188435	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	2641055	47188435	4116131	1326	53537											
SBF1	6305	broad.mit.edu	37	chr22	50905867	50905867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggatggcatagatgaggCcaaggctgttctgcaatgac	14	8	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:50905867C>T	uc003blh.2	-	5	644	c.449G>A	c.(448-450)GGC>GAC	p.G150D	SBF1_uc011arx.1_5'Flank|SBF1_uc003bli.2_Missense_Mutation_p.G151D	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	150	DENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ATAGATGAGGCCAAGGCTGTT	0.652													T	50905867	C	T	50905867	3	4	75	1	0	0	0	0	1	0	0	0	13858	739	26	2	5380	2	SBF1	22	50905867	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3717432	50905867	398699	1327	53538											
TYMP	1890	broad.mit.edu	37	chr22	50967711	50967711	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgagccagggcctgggtcaGcaccgaggtctcctccagat	13	14	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:50967711G>C	uc003bmb.3	-	2	391	c.271C>G	c.(271-273)CTG>GTG	p.L91V	TYMP_uc003bmc.3_Missense_Mutation_p.L91V|TYMP_uc003bmd.3_Missense_Mutation_p.L91V|TYMP_uc010hbd.2_Missense_Mutation_p.L91V|TYMP_uc003bme.3_Missense_Mutation_p.L91V|TYMP_uc003bmf.3_Missense_Mutation_p.L91V|TYMP_uc011arz.1_Missense_Mutation_p.L91V	NM_001113756	NP_001107228	P19971	TYPH_HUMAN	endothelial cell growth factor 1	91					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			ovary(1)	1		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	GCCTGGGTCAGCACCGAGGTC	0.657													C	50967711	G	C	50967711	3	2	75	1	0	0	0	0	1	0	0	0	16808	962	34	5	1209	5	TYMP	22	50967711	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	61844	50967711	336855	1328	53539											
RABL2B	11158	broad.mit.edu	37	chr22	51207481	51207481	+	Frame_Shift_Del	DEL	A	A	-													tgacctacctcgagctcctgAaaaatctcatccatgaagtc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:51207481delA	uc003bno.1	-	8	792	c.576delT	c.(574-576)TTTfs	p.F192fs	RPL23AP82_uc011asd.1_Intron|RPL23AP82_uc003bni.2_Intron|RABL2B_uc011ase.1_RNA|RABL2B_uc003bnm.1_Frame_Shift_Del_p.F202fs|RABL2B_uc011asf.1_Frame_Shift_Del_p.F193fs|RABL2B_uc003bnn.1_Frame_Shift_Del_p.F193fs|RABL2B_uc003bnk.1_Frame_Shift_Del_p.F193fs|RABL2B_uc011asg.1_Frame_Shift_Del_p.F193fs|RABL2B_uc003bnl.1_Frame_Shift_Del_p.F192fs|RABL2B_uc011ash.1_RNA	NM_001130922	NP_001124394	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B	192					small GTPase mediated signal transduction		GTP binding|GTPase activity				0		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		CGAGCTCCTGAAAAATCTCAT	0.498													-	51207481	A	-	51207481	7	5	75	1	0	1	0	1	0	0	0	0	12971	243	9	0	118	0	RABL2B	22	51207481	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	239770	51207481	97085	1329	53540											
MXRA5	25878	broad.mit.edu	37	chrX	3229371	3229371	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgtccaccgctgtcatcCgactgcatgaaggagttcac	11	13	2	1	rs141500951		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:3229371C>T	uc004crg.3	-	7	7030	c.6873G>A	c.(6871-6873)TCG>TCA	p.S2291S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2291	Ig-like C2-type 7.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGCTGTCATCCGACTGCATGA	0.572													T	3229371	C	T	3229371	2	4	75	1	0	0	0	0	0	0	0	1	10003	639	23	1		1	MXRA5	23	3229371	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08		3229371	152041189	1330	53541											
MXRA5	25878	broad.mit.edu	37	chrX	3235196	3235196	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcctccagaggatgcgcgGccaggggtcccccgaggcgc	16	16	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:3235196G>T	uc004crg.3	-	6	6683	c.6526C>A	c.(6526-6528)CCG>ACG	p.P2176T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2176	Ig-like C2-type 6.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGGATGCGCGGCCAGGGGTCC	0.677													T	3235196	G	T	3235196	3	4	75	1	0	0	0	0	1	0	0	0	10003	1203	42	5	1968	5	MXRA5	23	3235196	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	5825	3235196	152035364	1331	53542											
MXRA5	25878	broad.mit.edu	37	chrX	3235707	3235707	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggaaagggtccggttttcGtgcagggtgatgcggccctc	16	9	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:3235707G>A	uc004crg.3	-	6	6172	c.6015C>T	c.(6013-6015)CAC>CAT	p.H2005H		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2005	Ig-like C2-type 4.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCGGTTTTCGTGCAGGGTGA	0.622													A	3235707	G	A	3235707	2	1	75	1	0	0	0	0	0	0	0	1	10003	1136	40	1		1	MXRA5	23	3235707	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	511	3235707	152034853	1332	53543											
PNPLA4	8228	broad.mit.edu	37	chrX	7870101	7870101	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggggagatgtccagtcGtccactgaagggggagatgg	18	8	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:7870101G>A	uc011mhq.1	-	6	721	c.559C>T	c.(559-561)CGA>TGA	p.R187*	PNPLA4_uc011mhr.1_Nonsense_Mutation_p.R187*|PNPLA4_uc011mhs.1_Nonsense_Mutation_p.R100*	NM_004650	NP_004641	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	187					lipid catabolic process		triglyceride lipase activity				0		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				ATGTCCAGTCGTCCACTGAAG	0.512													A	7870101	G	A	7870101	4	1	75	1	0	0	0	0	0	1	0	0	12167	1153	40	1	210	1	PNPLA4	23	7870101	Nonsense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	4634394	7870101	147400459	1333	53544											
TBL1X	6907	broad.mit.edu	37	chrX	9660159	9660159	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttattctgtagatctggAgactcaactgcaaggatatg	9	6	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:9660159A>G	uc010ndq.2	+	9	1124	c.756A>G	c.(754-756)GGA>GGG	p.G252G	TBL1X_uc004csq.3_Silent_p.G201G|TBL1X_uc010ndr.2_Silent_p.G201G|TBL1X_uc004csr.2_Silent_p.G252G|TBL1X_uc004css.2_Silent_p.G203G	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN	transducin beta-like 1X isoform a	252	WD 1.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Hepatocellular(5;0.000888)				GTAGATCTGGAGACTCAACTG	0.522													G	9660159	A	G	9660159	2	3	75	1	0	0	0	0	0	0	0	1	15636	291	11	3		3	TBL1X	23	9660159	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1790058	9660159	145610401	1334	53545											
MID1	4281	broad.mit.edu	37	chrX	10427835	10427835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctatcatccagctatcagccGaattacacagacctgcaaag	6	13	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:10427835G>A	uc004cte.3	-	8	1489	c.1298C>T	c.(1297-1299)TCG>TTG	p.S433L	MID1_uc004ctd.3_Missense_Mutation_p.S144L|MID1_uc004ctg.3_Missense_Mutation_p.S433L|MID1_uc004cth.3_Missense_Mutation_p.S395L|MID1_uc004ctk.3_Missense_Mutation_p.S433L|MID1_uc004cti.3_Missense_Mutation_p.S433L|MID1_uc004ctj.3_Missense_Mutation_p.S433L|MID1_uc011mie.1_RNA|MID1_uc004csz.3_Missense_Mutation_p.S105L|MID1_uc004cta.3_Missense_Mutation_p.S189L|MID1_uc004ctb.3_Missense_Mutation_p.S93L|MID1_uc004ctc.3_Missense_Mutation_p.S200L	NM_033290	NP_150632	O15344	TRI18_HUMAN	midline 1	433	Fibronectin type-III.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|pancreas(1)	3						GCTATCAGCCGAATTACACAG	0.453													A	10427835	G	A	10427835	3	1	75	1	0	0	0	0	1	0	0	0	9576	1059	37	1	717	1	MID1	23	10427835	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	767676	10427835	144842725	1335	53546											
PRPS2	5634	broad.mit.edu	37	chrX	12809648	12809648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtgctgttcagcggcagctCgcatcaggacctgtcccagc	12	15	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:12809648C>T	uc004cvb.2	+	1	156	c.32C>T	c.(31-33)TCG>TTG	p.S11L	PRPS2_uc004cva.2_Missense_Mutation_p.S11L	NM_002765	NP_002756	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	11					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity				0						AGCGGCAGCTCGCATCAGGAC	0.478													T	12809648	C	T	12809648	3	4	75	1	0	0	0	0	1	0	0	0	12580	893	31	1	34	1	PRPS2	23	12809648	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2381813	12809648	142460912	1336	53547											
TLR8	51311	broad.mit.edu	37	chrX	12938574	12938574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacttttatcatttcacccGtcctttaataaagccacaat	3	11	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:12938574G>A	uc004cve.2	+	2	1483	c.1415G>A	c.(1414-1416)CGT>CAT	p.R472H	TLR8_uc004cvd.2_Missense_Mutation_p.R490H	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	472	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						CATTTCACCCGTCCTTTAATA	0.383													A	12938574	G	A	12938574	3	1	75	1	0	0	0	0	1	0	0	0	15954	1145	40	1	1421	1	TLR8	23	12938574	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	128926	12938574	142331986	1337	53548											
GEMIN8	54960	broad.mit.edu	37	chrX	14038456	14038456	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatagaaggactgaggataCgcagcctcattatcgtaaga	10	8	2	3	rs145346660		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:14038456C>T	uc004cwb.2	-	4	556	c.213G>A	c.(211-213)GCG>GCA	p.A71A	GEMIN8_uc004cwc.2_Silent_p.A71A|GEMIN8_uc004cwd.2_Silent_p.A71A	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	71					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding				0						ACTGAGGATACGCAGCCTCAT	0.493													T	14038456	C	T	14038456	2	4	75	1	0	0	0	0	0	0	0	1	6334	523	19	1		1	GEMIN8	23	14038456	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1099882	14038456	141232104	1338	53549											
ZRSR2	8233	broad.mit.edu	37	chrX	15841310	15841310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctaggtcccgaagtcgtgGcaggaggaggtcgggtaata	16	8	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:15841310G>A	uc004cxg.3	+	11	1439	c.1394G>A	c.(1393-1395)GGC>GAC	p.G465D		NM_005089	NP_005080	Q15696	U2AFM_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 2	465	Arg/Ser-rich (RS domain).				spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)	3	Hepatocellular(33;0.183)					CGAAGTCGTGGCAGGAGGAGG	0.433													A	15841310	G	A	15841310	3	1	75	1	0	0	0	0	1	0	0	0	18222	1203	42	2	1436	2	ZRSR2	23	15841310	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1802854	15841310	139429250	1339	53550											
GPR64	10149	broad.mit.edu	37	chrX	19045371	19045371	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacaggactccagttaaggTgccattcgttatatgttgat	10	7	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:19045371T>C	uc004cyx.2	-	11	600	c.436A>G	c.(436-438)ACC>GCC	p.T146A	GPR64_uc004cyy.2_Missense_Mutation_p.T143A|GPR64_uc004cyz.2_Missense_Mutation_p.T132A|GPR64_uc004czb.2_Missense_Mutation_p.T146A|GPR64_uc004czc.2_Missense_Mutation_p.T130A|GPR64_uc004czd.2_Missense_Mutation_p.T122A|GPR64_uc004cze.2_Missense_Mutation_p.T116A|GPR64_uc004czf.2_Missense_Mutation_p.T108A|GPR64_uc004cza.2_Missense_Mutation_p.T124A|GPR64_uc004cyw.2_Missense_Mutation_p.T130A|GPR64_uc010nfj.2_Missense_Mutation_p.T116A	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	146	Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					CCAGTTAAGGTGCCATTCGTT	0.333													C	19045371	T	C	19045371	3	2	75	1	0	0	0	0	1	0	0	0	6705	1696	59	3	2693	3	GPR64	23	19045371	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	3204061	19045371	136225189	1340	53551											
PHEX	5251	broad.mit.edu	37	chrX	22051188	22051188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacagaggcactcgaattgCcctggtcgtgtttgtcggtg	13	10	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:22051188C>T	uc004dah.2	+	1	268	c.65C>T	c.(64-66)GCC>GTC	p.A22V	PHEX_uc011mjr.1_Missense_Mutation_p.A22V	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	22	Helical; Signal-anchor for type II membrane protein; (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3						ACTCGAATTGCCCTGGTCGTG	0.562													T	22051188	C	T	22051188	3	4	75	1	0	0	0	0	1	0	0	0	11819	739	26	2	67	2	PHEX	23	22051188	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3005817	22051188	133219372	1341	53552											
PTCHD1	139411	broad.mit.edu	37	chrX	23411550	23411550	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctctaaaaaatacaatgatGaggtcgatgtagtggcctcc	9	8	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:23411550G>A	uc004dal.3	+	3	1923	c.1915G>A	c.(1915-1917)GAG>AAG	p.E639K		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	639					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						ATACAATGATGAGGTCGATGT	0.393													A	23411550	G	A	23411550	3	1	75	1	0	0	0	0	1	0	0	0	12732	1291	45	4	1925	4	PTCHD1	23	23411550	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1360362	23411550	131859010	1342	53553											
ACOT9	23597	broad.mit.edu	37	chrX	23722911	23722911	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctcctgcagggaggcCacttcactgtgtactctgac	10	13	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:23722911C>T	uc004dap.2	-	14	1277	c.1131G>A	c.(1129-1131)GTG>GTA	p.V377V	ACOT9_uc004dan.2_Silent_p.V127V|ACOT9_uc004dao.2_Silent_p.V386V|ACOT9_uc004daq.2_Silent_p.V335V|ACOT9_uc004dar.2_Silent_p.V317V|ACOT9_uc011mjt.1_RNA|ACOT9_uc004das.2_Silent_p.V317V	NM_001033583	NP_001028755	Q9Y305	ACOT9_HUMAN	acyl-Coenzyme A thioesterase 2, mitochondrial	377					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(2)|pancreas(1)	3						GCAGGGAGGCCACTTCACTGT	0.398													T	23722911	C	T	23722911	2	4	75	1	0	0	0	0	0	0	0	1	157	581	21	4		4	ACOT9	23	23722911	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	311361	23722911	131547649	1343	53554											
DMD	1756	broad.mit.edu	37	chrX	32490402	32490402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcatggtctcctgatagCgcattggtggcaaagtgtca	11	10	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:32490402C>T	uc004dda.1	-	22	3072	c.2828G>A	c.(2827-2829)CGC>CAC	p.R943H	DMD_uc004dcz.2_Missense_Mutation_p.R820H|DMD_uc004dcy.1_Missense_Mutation_p.R939H|DMD_uc004ddb.1_Missense_Mutation_p.R935H|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	943	Spectrin 6.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCCTGATAGCGCATTGGTGG	0.413													T	32490402	C	T	32490402	3	4	75	1	0	0	0	0	1	0	0	0	4580	768	27	1	8704	1	DMD	23	32490402	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	8767491	32490402	122780158	1344	53555											
FAM47A	158724	broad.mit.edu	37	chrX	34149740	34149740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcggagactggacaccGgagtcttgggaggctccggg	19	11	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:34149740G>A	uc004ddg.2	-	1	689	c.656C>T	c.(655-657)CCG>CTG	p.P219L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	219	Pro-rich.									ovary(4)|central_nervous_system(1)	5						ACTGGACACCGGAGTCTTGGG	0.657													A	34149740	G	A	34149740	3	1	75	1	0	0	0	0	1	0	0	0	5569	1116	39	1	1723	1	FAM47A	23	34149740	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1659338	34149740	121120820	1345	53556											
FAM47C	442444	broad.mit.edu	37	chrX	37027561	37027561	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atctctgcccggaacctccaGagactcgcgtatctcctctc	7	17	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:37027561G>T	uc004ddl.1	+	1	1092	c.1078G>T	c.(1078-1080)GAG>TAG	p.E360*		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	360										ovary(3)	3						GGAACCTCCAGAGACTCGCGT	0.637													T	37027561	G	T	37027561	4	4	75	1	0	0	0	0	0	1	0	0	5571	943	33	5	1080	5	FAM47C	23	37027561	Nonsense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2877821	37027561	118242999	1346	53557											
FAM47C	442444	broad.mit.edu	37	chrX	37028339	37028339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcgcgtatctcatctccGcccagagcctcctgagactg	9	16	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:37028339G>A	uc004ddl.1	+	1	1870	c.1856G>A	c.(1855-1857)CGC>CAC	p.R619H		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	619										ovary(3)	3						TCTCATCTCCGCCCAGAGCCT	0.647													A	37028339	G	A	37028339	3	1	75	1	0	0	0	0	1	0	0	0	5571	1087	38	1	1858	1	FAM47C	23	37028339	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	778	37028339	118242221	1347	53558											
CASK	8573	broad.mit.edu	37	chrX	41413004	41413004	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagaaggaatgagaccTgcagttccatttttggagtt	12	6	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:41413004T>C	uc004dfl.3	-	21	2053	c.2007A>G	c.(2005-2007)GCA>GCG	p.A669A	CASK_uc004dfj.3_Silent_p.A209A|CASK_uc004dfk.3_Silent_p.A484A|CASK_uc004dfm.3_Silent_p.A646A|CASK_uc004dfn.3_Silent_p.A640A	NM_003688	NP_003679	O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein	669	SH3.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			ovary(3)|lung(2)|stomach(1)	6						GAATGAGACCTGCAGTTCCAT	0.398													C	41413004	T	C	41413004	2	2	75	1	0	0	0	0	0	0	0	1	2665	1567	55	3		3	CASK	23	41413004	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	4384665	41413004	113857556	1348	53559											
MAOA	4128	broad.mit.edu	37	chrX	43603382	43603382	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggtctcgggaaggtgacCgagaaagatatctgggtaca	14	6	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:43603382C>T	uc004dfy.2	+	14	1582	c.1401C>T	c.(1399-1401)ACC>ACT	p.T467T	MAOA_uc011mkw.1_Silent_p.T334T	NM_000240	NP_000231	P21397	AOFA_HUMAN	monoamine oxidase A	467	Cytoplasmic.				behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			breast(2)|ovary(1)	3					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	GGAAGGTGACCGAGAAAGATA	0.428													T	43603382	C	T	43603382	2	4	75	1	0	0	0	0	0	0	0	1	9225	639	23	1		1	MAOA	23	43603382	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2190378	43603382	111667178	1349	53560											
ARAF	369	broad.mit.edu	37	chrX	47424262	47424262	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgaggagctcattgtcgaGgtccttgaagatgtcccgct	14	10	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:47424262G>A	uc011mlq.1	+	4	400	c.267G>A	c.(265-267)GAG>GAA	p.E89E	ARAF_uc011mln.1_RNA|ARAF_uc011mlo.1_5'UTR|ARAF_uc011mlp.1_Silent_p.E89E|ARAF_uc004dic.1_5'Flank	NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	89	RBD.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	TCATTGTCGAGGTCCTTGAAG	0.582													A	47424262	G	A	47424262	2	1	75	1	0	0	0	0	0	0	0	1	837	991	35	4		4	ARAF	23	47424262	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	3820880	47424262	107846298	1350	53561											
SYN1	6853	broad.mit.edu	37	chrX	47464744	47464744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgccatgctgaaggcgtGctggcggatcagcacaaaat	14	10	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:47464744G>A	uc004die.2	-	4	691	c.562C>T	c.(562-564)CAC>TAC	p.H188Y	SYN1_uc004did.2_Missense_Mutation_p.H188Y	NM_006950	NP_008881	P17600	SYN1_HUMAN	synapsin I isoform Ia	188	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			ovary(1)	1						CTGAAGGCGTGCTGGCGGATC	0.532													A	47464744	G	A	47464744	3	1	75	1	0	0	0	0	1	0	0	0	15437	1319	46	2	1595	2	SYN1	23	47464744	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	40482	47464744	107805816	1351	53562											
WDR13	64743	broad.mit.edu	37	chrX	48458953	48458953	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatccgagagatccctgAccccgatagcgctgaactgc	10	15	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:48458953A>G	uc004dkh.1	+	6	917	c.770A>G	c.(769-771)GAC>GGC	p.D257G	WDR13_uc010nif.1_Missense_Mutation_p.D135G|WDR13_uc004dki.1_Missense_Mutation_p.D165G|WDR13_uc004dkj.1_Missense_Mutation_p.D257G|WDR13_uc004dkk.1_Missense_Mutation_p.D165G|WDR13_uc004dkl.3_Missense_Mutation_p.D165G|WDR13_uc011mme.1_Missense_Mutation_p.D135G	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	257						cytoplasm|nucleus				ovary(2)	2						GAGATCCCTGACCCCGATAGC	0.607													G	48458953	A	G	48458953	3	3	75	1	0	0	0	0	1	0	0	0	17272	275	10	3	788	3	WDR13	23	48458953	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	994209	48458953	106811607	1352	53563											
CCDC120	90060	broad.mit.edu	37	chrX	48923103	48923103	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accccatggaaaccacctccAtcagatctttatggggatct	7	13	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:48923103A>G	uc010nik.2	+	8	1308	c.801A>G	c.(799-801)CCA>CCG	p.P267P	CCDC120_uc011mmq.1_Silent_p.P255P|CCDC120_uc004dmf.2_Silent_p.P267P|CCDC120_uc010nil.2_Silent_p.P267P|CCDC120_uc011mmr.1_Silent_p.P267P|CCDC120_uc011mms.1_Silent_p.P255P	NM_033626	NP_296375	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120 isoform 3	267							protein binding			pancreas(1)	1						AACCACCTCCATCAGATCTTT	0.647													G	48923103	A	G	48923103	2	3	75	1	0	0	0	0	0	0	0	1	2756	204	8	3		3	CCDC120	23	48923103	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	464150	48923103	106347457	1353	53564											
CCDC120	90060	broad.mit.edu	37	chrX	48925339	48925339	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccgaaggccctgaggtGcatccaaaccctctgctgtg	12	14	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:48925339G>A	uc010nik.2	+	10	2091	c.1584G>A	c.(1582-1584)GTG>GTA	p.V528V	CCDC120_uc011mmq.1_Silent_p.V516V|CCDC120_uc004dmf.2_Silent_p.V528V|CCDC120_uc010nil.2_Silent_p.V528V|CCDC120_uc011mmr.1_Silent_p.V528V|CCDC120_uc011mms.1_Silent_p.V516V	NM_033626	NP_296375	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120 isoform 3	528	Pro-rich.						protein binding			pancreas(1)	1						GCCCTGAGGTGCATCCAAACC	0.677													A	48925339	G	A	48925339	2	1	75	1	0	0	0	0	0	0	0	1	2756	1306	46	2		2	CCDC120	23	48925339	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	2236	48925339	106345221	1354	53565											
PPP1R3F	89801	broad.mit.edu	37	chrX	49127199	49127199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgctccggatcgcaccCgctcccacacccactgatgc	8	20	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:49127199C>T	uc004dnh.1	+	1	883	c.867C>T	c.(865-867)CCC>CCT	p.P289P	PPP1R3F_uc011mnd.1_5'UTR|PPP1R3F_uc004dni.2_Intron	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	289	Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)					GGATCGCACCCGCTCCCACAC	0.682													T	49127199	C	T	49127199	2	4	75	1	0	0	0	0	0	0	0	1	12375	639	23	1		1	PPP1R3F	23	49127199	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	201860	49127199	106143361	1355	53566											
DGKK	139189	broad.mit.edu	37	chrX	50125581	50125581	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccgaagtagttgttcatgAcacatttttctttgaagcgt	8	7	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:50125581A>G	uc010njr.1	-	18	2630	c.2570T>C	c.(2569-2571)GTC>GCC	p.V857A		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	857					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					GTTGTTCATGACACATTTTTC	0.408													G	50125581	A	G	50125581	3	3	75	1	0	0	0	0	1	0	0	0	4472	275	10	3	1288	3	DGKK	23	50125581	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	998382	50125581	105144979	1356	53567											
GSPT2	23708	broad.mit.edu	37	chrX	51487354	51487354	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtagtattcattggccAtgtagacgctggcaagtcaa	10	7	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:51487354A>C	uc004dpl.2	+	1	858	c.632A>C	c.(631-633)CAT>CCT	p.H211P		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	peptide chain release factor 3	211	GTP (By similarity).				cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)	1	Ovarian(276;0.236)					TTCATTGGCCATGTAGACGCT	0.398													C	51487354	A	C	51487354	3	2	75	1	0	0	0	0	1	0	0	0	6827	217	8	5	634	5	GSPT2	23	51487354	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1361773	51487354	103783206	1357	53568											
TSPYL2	64061	broad.mit.edu	37	chrX	53112184	53112184	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgaagagcaaggaagaggcGatcatcatagtggaggatga	15	6	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:53112184G>A	uc004drw.2	+	1	636	c.504G>A	c.(502-504)GCG>GCA	p.A168A	TSPYL2_uc004drv.2_Silent_p.A168A|TSPYL2_uc004drx.1_5'Flank	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	168					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding				0						AGGAAGAGGCGATCATCATAG	0.318													A	53112184	G	A	53112184	2	1	75	1	0	0	0	0	0	0	0	1	16657	1045	37	1		1	TSPYL2	23	53112184	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1624830	53112184	102158376	1358	53569											
KDM5C	8242	broad.mit.edu	37	chrX	53222406	53222406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taccctctttggctctagctCctctcgggctgggtcatcgc	10	15	4	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:53222406C>T	uc004drz.2	-	26	4959	c.4426G>A	c.(4426-4428)GAG>AAG	p.E1476K	KDM5C_uc011moc.1_Intron|KDM5C_uc011mod.1_Intron|KDM5C_uc004dsa.2_Missense_Mutation_p.E1475K|uc004dsb.1_Intron	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	1476					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						GGCTCTAGCTCCTCTCGGGCT	0.716			N|F|S		clear cell renal carcinoma								T	53222406	C	T	53222406	3	4	75	1	0	0	0	0	1	0	0	0	8135	864	30	4	358	4	KDM5C	23	53222406	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	110222	53222406	102048154	1359	53570											
IQSEC2	23096	broad.mit.edu	37	chrX	53284024	53284024	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agccgctcaaagttcttgttCatgcggtactggcggaaggc	13	10	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:53284024C>T	uc004dsd.2	-	4	1290	c.1089G>A	c.(1087-1089)ATG>ATA	p.M363I	IQSEC2_uc004dsc.2_Missense_Mutation_p.M158I	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	353	IQ.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						AGTTCTTGTTCATGCGGTACT	0.582													T	53284024	C	T	53284024	3	4	75	1	0	0	0	0	1	0	0	0	7818	826	29	4	3425	4	IQSEC2	23	53284024	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	61618	53284024	101986536	1360	53571											
FAM120C	54954	broad.mit.edu	37	chrX	54209086	54209086	+	Silent	SNP	C	C	T													gcctggcaccgacggccccaCtcggccagccggtccttgcc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:54209086C>T	uc004dsz.3	-	1	629	c.546G>A	c.(544-546)GAG>GAA	p.E182E	FAM120C_uc011moh.1_Silent_p.E182E|FAM120C_uc004dta.2_Silent_p.E182E	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	182										ovary(1)|central_nervous_system(1)	2						GACGGCCCCACTCGGCCAGCC	0.701													T	54209086	C	T	54209086	2	4	75	1	0	0	0	0	0	0	0	1	5418	564	20	4		4	FAM120C	23	54209086	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	925062	54209086	101061474	1361	53572	219	2									
FAM120C	54954	broad.mit.edu	37	chrX	54209092	54209092	+	Silent	SNP	C	C	T													caccgacggccccactcggcCagccggtccttgcccaggcc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:54209092C>T	uc004dsz.3	-	1	623	c.540G>A	c.(538-540)CTG>CTA	p.L180L	FAM120C_uc011moh.1_Silent_p.L180L|FAM120C_uc004dta.2_Silent_p.L180L	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	180										ovary(1)|central_nervous_system(1)	2						CCCACTCGGCCAGCCGGTCCT	0.701													T	54209092	C	T	54209092	2	4	75	1	0	0	0	0	0	0	0	1	5418	581	21	4		4	FAM120C	23	54209092	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	6	54209092	101061468	1362	53573	219	2									
MTMR8	55613	broad.mit.edu	37	chrX	63555964	63555964	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagtatatttttacctttgGgaaaacttgtggcccatgga	10	6	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:63555964G>T	uc004dvs.2	-	10	1214	c.1146C>A	c.(1144-1146)TCC>TCA	p.S382S	MTMR8_uc011mou.1_Intron|MTMR8_uc004dvt.1_Silent_p.S382S	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	382	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						TTTACCTTTGGGAAAACTTGT	0.338													T	63555964	G	T	63555964	2	4	75	1	0	0	0	0	0	0	0	1	9949	1219	43	5		5	MTMR8	23	63555964	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	9346872	63555964	91714596	1363	53574											
AR	367	broad.mit.edu	37	chrX	66766584	66766584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggatggatagctactcCggaccttacggggacatgcg	13	12	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:66766584C>T	uc004dwu.1	+	1	2711	c.1596C>T	c.(1594-1596)TCC>TCT	p.S532S	AR_uc011mpd.1_Silent_p.S532S|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.S532S	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	531	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	ATAGCTACTCCGGACCTTACG	0.562									Androgen_Insensitivity_Syndrome				T	66766584	C	T	66766584	2	4	75	1	0	0	0	0	0	0	0	1	836	639	23	1		1	AR	23	66766584	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3210620	66766584	88503976	1364	53575											
OPHN1	4983	broad.mit.edu	37	chrX	67412807	67412807	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgaatattgctgcccacAgtgcggtacaacccttctgt	8	13	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:67412807A>C	uc004dww.3	-	15	1524	c.1230T>G	c.(1228-1230)ACT>ACG	p.T410T	OPHN1_uc011mpg.1_Silent_p.T410T	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	410	Rho-GAP.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2						TGCTGCCCACAGTGCGGTACA	0.398													C	67412807	A	C	67412807	2	2	75	1	0	0	0	0	0	0	0	1	10875	175	7	5		5	OPHN1	23	67412807	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	646223	67412807	87857753	1365	53576											
RAB41	347517	broad.mit.edu	37	chrX	69503872	69503872	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttattgagaccagtgccaaAaccggttacaacgtgaaaaa	8	8	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:69503872A>G	uc004dyc.2	+	6	528	c.528A>G	c.(526-528)AAA>AAG	p.K176K	RAB41_uc010nkv.2_Silent_p.K165K	NM_001032726	NP_001027898	Q5JT25	RAB41_HUMAN	RAB41, member RAS oncogene family	176					protein transport|small GTPase mediated signal transduction		GTP binding			ovary(2)|breast(2)	4						CCAGTGCCAAAACCGGTTACA	0.383													G	69503872	A	G	69503872	2	3	75	1	0	0	0	0	0	0	0	1	12943	11	1	3		3	RAB41	23	69503872	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	2091065	69503872	85766688	1366	53577											
DLG3	1741	broad.mit.edu	37	chrX	69669629	69669629	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctgaaggaggcaggccCtgtggtgcgattggtggtgc	20	8	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:69669629C>A	uc004dyi.1	+	4	951	c.623C>A	c.(622-624)CCT>CAT	p.P208H	DLG3_uc004dyj.1_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	208	PDZ 1.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					GAGGCAGGCCCTGTGGTGCGA	0.642													A	69669629	C	A	69669629	3	1	75	1	0	0	0	0	1	0	0	0	4556	681	24	5	637	5	DLG3	23	69669629	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	165757	69669629	85600931	1367	53578											
DLG3	1741	broad.mit.edu	37	chrX	69719839	69719839	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacaagttcatcgaggcgggCcaatttaatgataacctcta	8	9	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:69719839C>A	uc004dyi.1	+	16	2413	c.2085C>A	c.(2083-2085)GGC>GGA	p.G695G	DLG3_uc004dyj.1_Silent_p.G390G|DLG3_uc011mpn.1_Silent_p.G243G	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	695	Guanylate kinase-like.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					TCGAGGCGGGCCAATTTAATG	0.502													A	69719839	C	A	69719839	2	1	75	1	0	0	0	0	0	0	0	1	4556	726	26	5		5	DLG3	23	69719839	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	50210	69719839	85550721	1368	53579											
NONO	4841	broad.mit.edu	37	chrX	70517705	70517705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggaggaagagcgcaggCgccgtgaagaagagatgcgg	20	7	0	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:70517705C>T	uc004dzo.2	+	10	1758	c.1048C>T	c.(1048-1050)CGC>TGC	p.R350C	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Missense_Mutation_p.R350C|NONO_uc004dzp.2_Missense_Mutation_p.R350C|NONO_uc011mpv.1_Missense_Mutation_p.R261C|NONO_uc004dzq.2_Missense_Mutation_p.R219C	NM_001145408	NP_001138880	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	350	Poly-Arg.|Potential.|DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	ovary(2)|kidney(2)	4	Renal(35;0.156)					AGAGCGCAGGCGCCGTGAAGA	0.512			T	TFE3	papillary renal cancer								T	70517705	C	T	70517705	3	4	75	1	0	0	0	0	1	0	0	0	10534	768	27	1	1074	1	NONO	23	70517705	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	797866	70517705	84752855	1369	53580											
CXCR3	2833	broad.mit.edu	37	chrX	70836598	70836598	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcccctggaaaccagcaGcacggccaggatgtgggcat	14	13	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:70836598G>A	uc004eaf.2	-	2	792	c.724C>T	c.(724-726)CTG>TTG	p.L242L	BCYRN1_uc011mpt.1_Intron|CXCR3_uc011mpx.1_Silent_p.L289L	NM_001504	NP_001495	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3 isoform A	242	Cytoplasmic (Potential).				cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			ovary(2)|central_nervous_system(1)	3	Renal(35;0.156)					GAAACCAGCAGCACGGCCAGG	0.682													A	70836598	G	A	70836598	2	1	75	1	0	0	0	0	0	0	0	1	4092	962	34	2		2	CXCR3	23	70836598	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	318893	70836598	84433962	1370	53581											
UPRT	139596	broad.mit.edu	37	chrX	74494453	74494453	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgatcagatacgggagCtacagaccatcatccgtgac	10	10	2	5			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:74494453C>A	uc004ecb.1	+	1	493	c.364C>A	c.(364-366)CTA>ATA	p.L122I	UPRT_uc010nlu.1_Missense_Mutation_p.L122I|UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Missense_Mutation_p.L122I|UPRT_uc004ece.1_5'Flank	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog	122					nucleoside metabolic process	cytoplasm|nucleus					0						GATACGGGAGCTACAGACCAT	0.562													A	74494453	C	A	74494453	3	1	75	1	0	0	0	0	1	0	0	0	17011	796	28	5	366	5	UPRT	23	74494453	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	3657855	74494453	80776107	1371	53582											
MAGEE2	139599	broad.mit.edu	37	chrX	75004644	75004644	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagggtcatggaccctgagCgcccccaaacgtctggactg	13	13	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:75004644C>T	uc004ecj.1	-	1	428	c.243G>A	c.(241-243)GCG>GCA	p.A81A		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	81										ovary(1)|skin(1)	2						GGACCCTGAGCGCCCCCAAAC	0.552													T	75004644	C	T	75004644	2	4	75	1	0	0	0	0	0	0	0	1	9186	755	27	1		1	MAGEE2	23	75004644	Silent	SNP	C	TCGA-BR-8363-01A-11D-2340-08	510191	75004644	80265916	1372	53583											
MAGEE1	57692	broad.mit.edu	37	chrX	75649353	75649353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggagttgagcacctccGtgccgcccactcccggtgag	13	15	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:75649353G>A	uc004ecm.1	+	1	1237	c.1030G>A	c.(1030-1032)GTG>ATG	p.V344M		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	344	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						GAGCACCTCCGTGCCGCCCAC	0.682													A	75649353	G	A	75649353	3	1	75	1	0	0	0	0	1	0	0	0	9185	1145	40	1	1032	1	MAGEE1	23	75649353	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	644709	75649353	79621207	1373	53584											
ATRX	546	broad.mit.edu	37	chrX	76920196	76920196	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcccttcttctggctcaTcatctgaagatccatcctca	4	14	6	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:76920196T>C	uc004ecp.3	-	11	4113	c.3881A>G	c.(3880-3882)GAT>GGT	p.D1294G	ATRX_uc004ecq.3_Missense_Mutation_p.D1256G|ATRX_uc004eco.3_Missense_Mutation_p.D1079G|ATRX_uc004ecr.2_Missense_Mutation_p.D1226G	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1294					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TTCTGGCTCATCATCTGAAGA	0.353			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76920196	T	C	76920196	3	2	75	1	0	0	0	0	1	0	0	0	1208	1435	50	3	3697	3	ATRX	23	76920196	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	1270843	76920196	78350364	1374	53585											
HDX	139324	broad.mit.edu	37	chrX	83724232	83724232	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttttttcacctaggagtaGggaagcatttttacagtgtg	11	5	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:83724232G>T	uc004eek.1	-	3	608	c.499C>A	c.(499-501)CTA>ATA	p.L167I	HDX_uc011mqv.1_Missense_Mutation_p.L167I|HDX_uc004eel.1_Missense_Mutation_p.L109I	NM_144657	NP_653258	Q7Z353	HDX_HUMAN	highly divergent homeobox	167						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)	2						CCTAGGAGTAGGGAAGCATTT	0.358													T	83724232	G	T	83724232	3	4	75	1	0	0	0	0	1	0	0	0	7026	991	35	5	1605	5	HDX	23	83724232	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	6804036	83724232	71546328	1375	53586											
APOOL	139322	broad.mit.edu	37	chrX	84310876	84310876	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcctcgagattttcttccGaaaatgggagttattacagt	8	9	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:84310876G>A	uc004eem.2	+	5	353	c.339G>A	c.(337-339)CCG>CCA	p.P113P	APOOL_uc010nmp.2_Intron	NM_198450	NP_940852	Q6UXV4	APOOL_HUMAN	apolipoprotein O-like precursor	113						extracellular region					0						ATTTTCTTCCGAAAATGGGAG	0.338													A	84310876	G	A	84310876	2	1	75	1	0	0	0	0	0	0	0	1	814	1045	37	1		1	APOOL	23	84310876	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	586644	84310876	70959684	1376	53587											
SATL1	340562	broad.mit.edu	37	chrX	84362677	84362677	+	Frame_Shift_Del	DEL	G	G	-													ctcgttgccacatgcctggtGgactcttgtttggttgcctc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:84362676_84362676TG>T	uc004een.3	-	0	1299	c.1299_1299CA>A	c.(1297-1299)ccafs	p.P433fs		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	246	Acetyl-CoA binding (By similarity).|N-acetyltransferase.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						ACATGCCTGGTGGACTCTTGT	0.562													-	84362677	G	-	84362677	7	5	75	1	0	1	0	1	0	0	0	0	13855	1348	47	0	620	0	SATL1	23	84362677	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	51801	84362677	70907883	1377	53588											
POF1B	79983	broad.mit.edu	37	chrX	84600955	84600955	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtgatggcttggatttGctggctagaatcaggttgtt	13	6	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:84600955G>T	uc004eer.2	-	6	780	c.634C>A	c.(634-636)CAA>AAA	p.Q212K	POF1B_uc004ees.2_Missense_Mutation_p.Q212K	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	212							actin binding				0						GCTTGGATTTGCTGGCTAGAA	0.458													T	84600955	G	T	84600955	3	4	75	1	0	0	0	0	1	0	0	0	12182	1328	46	5	1183	5	POF1B	23	84600955	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	238278	84600955	70669605	1378	53589											
PABPC5	140886	broad.mit.edu	37	chrX	90690622	90690622	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggcaagaaaaagaagtatCtcaaggccgctctgtacgtg	11	9	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:90690622C>T	uc004efg.2	+	2	486	c.46C>T	c.(46-48)CTC>TTC	p.L16F	PABPC5_uc004eff.1_Intron	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	16						cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3						AAAGAAGTATCTCAAGGCCGC	0.527													T	90690622	C	T	90690622	3	4	75	1	0	0	0	0	1	0	0	0	11367	913	32	4	48	4	PABPC5	23	90690622	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	6089667	90690622	64579938	1379	53590											
TSPAN6	7105	broad.mit.edu	37	chrX	99891682	99891682	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtctgcagtctccgagacgGggacgccatgactagcccga	13	13	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:99891682G>T	uc004ega.1	-	1	113	c.10C>A	c.(10-12)CCG>ACG	p.P4T	TSPAN6_uc010nna.1_5'UTR	NM_003270	NP_003261	O43657	TSN6_HUMAN	transmembrane 4 superfamily member 6	4	Cytoplasmic (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			ovary(1)	1						CTCCGAGACGGGGACGCCATG	0.572													T	99891682	G	T	99891682	3	4	75	1	0	0	0	0	1	0	0	0	16648	1232	43	5	755	5	TSPAN6	23	99891682	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	9201060	99891682	55378878	1380	53591											
TAF7L	54457	broad.mit.edu	37	chrX	100530217	100530218	+	Frame_Shift_Ins	INS	-	-	T													catacttcttaccttctcatINSttttttgtttttcctgtaac							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:100530216_100530217A>AT	uc004ehb.3	-	11	1363_1364	c.1337_1338T>AT	c.(1336-1338)aatfs	p.N446fs	TAF7L_uc004eha.3_Frame_Shift_Ins_p.N286fs|TAF7L_uc004ehc.2_Frame_Shift_Ins_p.N360fs	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	446					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTACCTTCTCATTTTTTTGTTT	0.337													T	100530218	-	T	100530217	7	5	75	1	0	1	1	0	0	0	0	0	15530	1493	52	0	59	0	TAF7L	23	100530217	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	638535	100530217	54740343	1381	53592											
ARMCX1	51309	broad.mit.edu	37	chrX	100809163	100809163	+	Frame_Shift_Del	DEL	T	T	-													agaattcagcagaagttcacTttttttcttattcaaagagt							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:100809162_100809162CT>C	uc022cak.1	+	0	1249	c.1249_1249CT>C	c.(1249-1251)cttfs	p.L417fs	ARMCX1_uc004ehv.3_Frame_Shift_Del_p.L417fs|ARMCX1_uc004ehw.3_Frame_Shift_Del_p.L417fs	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	Homo sapiens armadillo repeat containing, X-linked 1 (ARMCX1), mRNA.	417						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						CAGAAGTTCACTTTTTTTCTT	0.333													-	100809163	T	-	100809163	7	5	75	1	0	1	0	1	0	0	0	0	959	1609	56	0	1252	0	ARMCX1	23	100809163	Frame_Shift_Del	DEL	T	TCGA-BR-8363-01A-11D-2340-08	278946	100809163	54461397	1382	53593											
TCEAL6	158931	broad.mit.edu	37	chrX	101396172	101396172	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcctttcgctttccctcGcattctgtcttcccctccgc	5	19	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:101396172G>A	uc004eiq.2	-	3	293	c.132C>T	c.(130-132)TGC>TGT	p.C44C		NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	44	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						gctttccctcgcattctgtct	0.184													A	101396172	G	A	101396172	2	1	75	1	0	0	0	0	0	0	0	1	15672	1079	38	1		1	TCEAL6	23	101396172	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	587009	101396172	53874388	1383	53594											
BHLHB9	80823	broad.mit.edu	37	chrX	102003967	102003967	+	Frame_Shift_Del	DEL	A	A	-													aagagcccaggccaaaactgAaaaaaaggctgctatacaag							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:102003966_102003966GA>G	uc022cbi.1	+	0	43	c.43_43GA>G	c.(43-45)gaafs	p.E15fs	BHLHB9_uc010nog.3_Frame_Shift_Del_p.E15fs|BHLHB9_uc011mrq.2_Frame_Shift_Del_p.E15fs|BHLHB9_uc011mrr.2_Frame_Shift_Del_p.E15fs|BHLHB9_uc011mrs.2_Frame_Shift_Del_p.E15fs|BHLHB9_uc011mrt.2_Frame_Shift_Del_p.E15fs|BHLHB9_uc004ejo.3_Frame_Shift_Del_p.E15fs|BHLHB9_uc011mru.2_Frame_Shift_Del_p.E15fs|BHLHB9_uc011mrv.2_Frame_Shift_Del_p.E15fs	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	15						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGCCAAAACTGAAAAAAAGGC	0.502													-	102003967	A	-	102003967	7	5	75	1	0	1	0	1	0	0	0	0	1420	246	9	0	46	0	BHLHB9	23	102003967	Frame_Shift_Del	DEL	A	TCGA-BR-8363-01A-11D-2340-08	607795	102003967	53266593	1384	53595											
BHLHB9	80823	broad.mit.edu	37	chrX	102004814	102004814	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accatagatgagattagacgTcaaatcaggatcagggaggt	12	6	3	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:102004814T>G	uc010nog.2	+	4	1462	c.891T>G	c.(889-891)CGT>CGG	p.R297R	BHLHB9_uc011mrq.1_Silent_p.R297R|BHLHB9_uc011mrr.1_Silent_p.R297R|BHLHB9_uc011mrs.1_Silent_p.R297R|BHLHB9_uc011mrt.1_Silent_p.R297R|BHLHB9_uc004ejo.2_Silent_p.R297R|BHLHB9_uc011mru.1_Silent_p.R297R|BHLHB9_uc011mrv.1_Silent_p.R297R	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	297						cytoplasm|nucleus	binding			ovary(2)	2						AGATTAGACGTCAAATCAGGA	0.448													G	102004814	T	G	102004814	2	3	75	1	0	0	0	0	0	0	0	1	1420	1654	58	5		5	BHLHB9	23	102004814	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	847	102004814	53265746	1385	53596											
PLP1	5354	broad.mit.edu	37	chrX	103041611	103041611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaagctcattctttggagCgggtgtgtcattgtttggga	13	6	4	0	rs132630295		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:103041611C>T	uc010nov.2	+	4	689	c.409C>T	c.(409-411)CGG>TGG	p.R137W	RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.R137W|PLP1_uc004elj.2_Intron|PLP1_uc011msf.1_Missense_Mutation_p.R82W|PLP1_uc010now.1_Missense_Mutation_p.R141W|PLP1_uc010nox.2_Missense_Mutation_p.R91W	NM_001128834	NP_001122306	P60201	MYPR_HUMAN	proteolipid protein 1 isoform 1	137	Cytoplasmic (Probable).		R -> W (in SPG2).|Missing (in HLD1).		cell death|synaptic transmission	integral to membrane		p.R137W(1)		ovary(1)	1						TTCTTTGGAGCGGGTGTGTCA	0.552													T	103041611	C	T	103041611	3	4	75	1	0	0	0	0	1	0	0	0	12104	759	27	1	419	1	PLP1	23	103041611	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	1036797	103041611	52228949	1386	53597											
H2BFWT	158983	broad.mit.edu	37	chrX	103267881	103267881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcgaccagcctcggtggCgatgcggtccaatatgtcat	13	12	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:103267881C>T	uc004elr.2	-	1	376	c.352G>A	c.(352-354)GCC>ACC	p.A118T		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	118					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			ovary(1)	1						GCCTCGGTGGCGATGCGGTCC	0.647													T	103267881	C	T	103267881	3	4	75	1	0	0	0	0	1	0	0	0	6932	768	27	1	183	1	H2BFWT	23	103267881	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	226270	103267881	52002679	1387	53598											
NRK	203447	broad.mit.edu	37	chrX	105152838	105152838	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgatcgagaagagccacAggtccaggcacttcagcagc	11	13	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:105152838A>C	uc004emd.2	+	13	1508	c.1205A>C	c.(1204-1206)CAG>CCG	p.Q402P	NRK_uc010npc.1_Missense_Mutation_p.Q70P	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	402	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						GAAGAGCCACAGGTCCAGGCA	0.577										HNSCC(51;0.14)			C	105152838	A	C	105152838	3	2	75	1	0	0	0	0	1	0	0	0	10655	188	7	5	1255	5	NRK	23	105152838	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	1884957	105152838	50117722	1388	53599											
COL4A5	1287	broad.mit.edu	37	chrX	107834822	107834822	+	Frame_Shift_Del	DEL	C	C	-													tgtgaaccaggccctccaggCcccccaggatctccaggtga					rs104886321		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:107834821_107834821GC>G	uc022ccg.1	+	20	1572	c.1370_1370GC>G	c.(1369-1371)ggcfs	p.G457fs	COL4A5_uc004enz.1_Frame_Shift_Del_p.G457fs|COL4A5_uc004eob.1_Frame_Shift_Del_p.G65fs	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	457	Triple-helical region.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCCCTCCAGGCCCCCCAGGA	0.408									Alport syndrome with Diffuse Leiomyomatosis				-	107834822	C	-	107834822	7	5	75	1	0	1	0	1	0	0	0	0	3694	726	26	0	1453	0	COL4A5	23	107834822	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	2681984	107834822	47435738	1389	53600											
GUCY2F	2986	broad.mit.edu	37	chrX	108636252	108636252	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaagcatagaatcaataatAttggtcttcttccctttatt	5	8	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:108636252A>G	uc004eod.3	-	13	2733	c.2457T>C	c.(2455-2457)AAT>AAC	p.N819N	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	819	Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						AATCAATAATATTGGTCTTCT	0.363													G	108636252	A	G	108636252	2	3	75	1	0	0	0	0	0	0	0	1	6898	446	16	3		3	GUCY2F	23	108636252	Silent	SNP	A	TCGA-BR-8363-01A-11D-2340-08	801430	108636252	46634308	1390	53601											
AMMECR1	9949	broad.mit.edu	37	chrX	109441848	109441848	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcatagctcagggtcatcTtttcactacgatacctgaaa	7	11	4	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:109441848T>C	uc004eoo.2	-	6	983	c.902A>G	c.(901-903)AAG>AGG	p.K301R	AMMECR1_uc004eop.2_Missense_Mutation_p.K264R|AMMECR1_uc004eoq.2_Missense_Mutation_p.K178R	NM_015365	NP_056180	Q9Y4X0	AMER1_HUMAN	AMMECR1 protein isoform 1	301	AMMECR1.										0						CAGGGTCATCTTTTCACTACG	0.373													C	109441848	T	C	109441848	3	2	75	1	0	0	0	0	1	0	0	0	578	1609	56	3	103	3	AMMECR1	23	109441848	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	805596	109441848	45828712	1391	53602											
GLUD2	2747	broad.mit.edu	37	chrX	120181650	120181650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggggccgcggacagcccGccgccgcctcgcagccgggg	18	19	0	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:120181650G>A	uc004eto.2	+	1	189	c.112G>A	c.(112-114)GCC>ACC	p.A38T		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	38					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)	CGGACAGCCCGCCGCCGCCTC	0.756													A	120181650	G	A	120181650	3	1	75	1	0	0	0	0	1	0	0	0	6477	1087	38	1	114	1	GLUD2	23	120181650	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	10739802	120181650	35088910	1392	53603											
BCORL1	63035	broad.mit.edu	37	chrX	129147854	129147854	+	Frame_Shift_Del	DEL	C	C	-													atcttccggcccaccttctaCccccaccctcatccccgcct							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:129147854delC	uc004evb.1	+	4	1220	c.1106delC	c.(1105-1107)ACCfs	p.T369fs	BCORL1_uc010nrd.1_Frame_Shift_Del_p.T271fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	369	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						ccaccttctacccccaccctc	0													-	129147854	C	-	129147854	7	5	75	1	0	1	0	1	0	0	0	0	1387	507	18	0	1116	0	BCORL1	23	129147854	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	8966204	129147854	26122706	1393	53604											
ELF4	2000	broad.mit.edu	37	chrX	129201411	129201411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcccattggtcagcaccGtggtcagtgggatcgtctgc	15	11	3	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:129201411G>A	uc004evd.3	-	9	1662	c.1277C>T	c.(1276-1278)ACG>ATG	p.T426M	ELF4_uc004eve.3_Missense_Mutation_p.T426M	NM_001421	NP_001412	Q99607	ELF4_HUMAN	E74-like factor 4	426					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGTCAGCACCGTGGTCAGTGG	0.592			T	ERG	AML								A	129201411	G	A	129201411	3	1	75	1	0	0	0	0	1	0	0	0	5056	1145	40	1	718	1	ELF4	23	129201411	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	53557	129201411	26069149	1394	53605											
MOSPD1	56180	broad.mit.edu	37	chrX	134025602	134025602	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccagtgtaggcagcatcaGggctgcaatgcacaccactc	10	15	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:134025602G>T	uc004eyb.2	-	5	704	c.517C>A	c.(517-519)CTG>ATG	p.L173M	MOSPD1_uc004eya.2_Intron|MOSPD1_uc010nrv.2_RNA	NM_019556	NP_062456	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1	173	Helical; (Potential).				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(192;0.000127)					GGCAGCATCAGGGCTGCAATG	0.458													T	134025602	G	T	134025602	3	4	75	1	0	0	0	0	1	0	0	0	9715	991	35	5	132	5	MOSPD1	23	134025602	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	4824191	134025602	21244958	1395	53606											
DDX26B	203522	broad.mit.edu	37	chrX	134709114	134709114	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagaccaacccaaaagacTgcatacttttggcaatccgt	6	13	0	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:134709114T>C	uc004eyw.3	+	13	2099	c.1736T>C	c.(1735-1737)CTG>CCG	p.L579P	DDX26B_uc004eyx.3_Missense_Mutation_p.L180P	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	579											0	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAAAAGACTGCATACTTTT	0.383													C	134709114	T	C	134709114	3	2	75	1	0	0	0	0	1	0	0	0	4353	1580	55	3	1786	3	DDX26B	23	134709114	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	683512	134709114	20561446	1396	53607											
MAP7D3	79649	broad.mit.edu	37	chrX	135314371	135314371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcattacataattggtgaCgcctgtaactgaatgaggac	10	8	0	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:135314371C>T	uc004ezt.2	-	8	836	c.745G>A	c.(745-747)GTC>ATC	p.V249I	MAP7D3_uc004ezs.2_Missense_Mutation_p.V213I|MAP7D3_uc011mwc.1_Missense_Mutation_p.V231I|MAP7D3_uc010nsa.1_Intron	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	249						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TAATTGGTGACGCCTGTAACT	0.413													T	135314371	C	T	135314371	3	4	75	1	0	0	0	0	1	0	0	0	9269	536	19	1	1929	1	MAP7D3	23	135314371	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	605257	135314371	19956189	1397	53608											
GPR112	139378	broad.mit.edu	37	chrX	135405372	135405372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctcaagaatgagagcaGcgaggttaaaagcatgatgc	11	7	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:135405372G>A	uc004ezu.1	+	5	797	c.506G>A	c.(505-507)AGC>AAC	p.S169N	GPR112_uc010nsb.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	169	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					AATGAGAGCAGCGAGGTTAAA	0.443													A	135405372	G	A	135405372	3	1	75	1	0	0	0	0	1	0	0	0	6629	971	34	2	512	2	GPR112	23	135405372	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	91001	135405372	19865188	1398	53609											
GPR112	139378	broad.mit.edu	37	chrX	135428617	135428617	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgacaaaattggtgaaaAccacacctaggagttcatac	7	8	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:135428617A>C	uc004ezu.1	+	6	3043	c.2752A>C	c.(2752-2754)ACC>CCC	p.T918P	GPR112_uc010nsb.1_Missense_Mutation_p.T713P|GPR112_uc010nsc.1_Missense_Mutation_p.T685P	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	918	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					ATTGGTGAAAACCACACCTAG	0.373													C	135428617	A	C	135428617	3	2	75	1	0	0	0	0	1	0	0	0	6629	43	2	5	2762	5	GPR112	23	135428617	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	23245	135428617	19841943	1399	53610											
GPR112	139378	broad.mit.edu	37	chrX	135431470	135431470	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttccagttctgggaacaAgaatgacatctagtaatacc	7	8	2	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:135431470A>G	uc004ezu.1	+	6	5896	c.5605A>G	c.(5605-5607)AGA>GGA	p.R1869G	GPR112_uc010nsb.1_Missense_Mutation_p.R1664G|GPR112_uc010nsc.1_Missense_Mutation_p.R1636G	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1869	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					TCTGGGAACAAGAATGACATC	0.423													G	135431470	A	G	135431470	3	3	75	1	0	0	0	0	1	0	0	0	6629	64	3	3	5615	3	GPR112	23	135431470	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	2853	135431470	19839090	1400	53611											
GPR101	83550	broad.mit.edu	37	chrX	136112734	136112734	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgggatgttcactgcctcgAcgtcatcctcactgaaattg	9	13	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:136112734A>G	uc011mwh.1	-	1	1100	c.1100T>C	c.(1099-1101)GTC>GCC	p.V367A		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	367	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					CACTGCCTCGACGTCATCCTC	0.542													G	136112734	A	G	136112734	3	3	75	1	0	0	0	0	1	0	0	0	6622	275	10	3	429	3	GPR101	23	136112734	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	681264	136112734	19157826	1401	53612											
ZIC3	7547	broad.mit.edu	37	chrX	136649262	136649262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgggtggcgggcagcacGggctcttcgccggctcggcg	18	15	1	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:136649262G>A	uc004fak.2	+	1	917	c.412G>A	c.(412-414)GGG>AGG	p.G138R		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	138					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					CGGGCAGCACGGGCTCTTCGC	0.701													A	136649262	G	A	136649262	3	1	75	1	0	0	0	0	1	0	0	0	17677	1116	39	1	414	1	ZIC3	23	136649262	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	536528	136649262	18621298	1402	53613											
MAGEC1	9947	broad.mit.edu	37	chrX	140995432	140995432	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agagtcctgtgagtatctgcTcctcctccacttctttgagt	8	12	2	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:140995432T>A	uc004fbt.2	+	4	2528	c.2242T>A	c.(2242-2244)TCC>ACC	p.S748T	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	748							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTATCTGCTCCTCCTCCAC	0.567										HNSCC(15;0.026)			A	140995432	T	A	140995432	3	1	75	1	0	0	0	0	1	0	0	0	9180	1551	54	5	2248	5	MAGEC1	23	140995432	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	4346170	140995432	14275128	1403	53614											
AFF2	2334	broad.mit.edu	37	chrX	147743680	147743680	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccaccttctgttgtgatactGaattcaactctaatacacag	5	11	3	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:147743680G>A	uc004fcp.2	+	3	911	c.432G>A	c.(430-432)CTG>CTA	p.L144L	AFF2_uc004fco.2_Silent_p.L140L|AFF2_uc004fcq.2_Silent_p.L140L|AFF2_uc004fcr.2_Silent_p.L140L|AFF2_uc011mxb.1_Silent_p.L144L|AFF2_uc004fcs.2_Silent_p.L140L	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	144					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TTGTGATACTGAATTCAACTC	0.443													A	147743680	G	A	147743680	2	1	75	1	0	0	0	0	0	0	0	1	357	1277	45	4		4	AFF2	23	147743680	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	6748248	147743680	7526880	1404	53615											
MTM1	4534	broad.mit.edu	37	chrX	149809853	149809853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcctcagatgatgacctcCggagagttgcaacttttagg	12	9	1	4			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:149809853C>T	uc004fef.3	+	8	716	c.640C>T	c.(640-642)CGG>TGG	p.R214W	MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.R177W|MTM1_uc011mxz.1_Missense_Mutation_p.R99W|MTM1_uc010nte.2_Missense_Mutation_p.R82W	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	214	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TGATGACCTCCGGAGAGTTGC	0.423													T	149809853	C	T	149809853	3	4	75	1	0	0	0	0	1	0	0	0	9937	643	23	1	666	1	MTM1	23	149809853	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	2066173	149809853	5460707	1405	53616											
HMGB3	3149	broad.mit.edu	37	chrX	150156290	150156290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaggaaagtttgatggtgCaaagggtcctgctaaagttg	14	4	0	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:150156290C>T	uc004fep.2	+	5	598	c.506C>T	c.(505-507)GCA>GTA	p.A169V	HMGB3_uc004feq.2_3'UTR|HMGB3_uc004fer.2_Missense_Mutation_p.A169V	NM_005342	NP_005333	O15347	HMGB3_HUMAN	high-mobility group box 3	169					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding				0	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGATGGTGCAAAGGGTCCT	0.284													T	150156290	C	T	150156290	3	4	75	1	0	0	0	0	1	0	0	0	7227	710	25	2	520	2	HMGB3	23	150156290	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	346437	150156290	5114270	1406	53617											
GPR50	9248	broad.mit.edu	37	chrX	150348782	150348782	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctaaccatgtttgtgatcTtcctcctctttgcagtgtgc	7	11	3	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:150348782T>G	uc010ntg.1	+	2	862	c.727T>G	c.(727-729)TTC>GTC	p.F243V	uc004fes.1_5'Flank|GPR50_uc011myc.1_Intron	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	243	Helical; Name=6; (Potential).				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTGTGATCTTCCTCCTCTT	0.537													G	150348782	T	G	150348782	3	3	75	1	0	0	0	0	1	0	0	0	6697	1609	56	5	733	5	GPR50	23	150348782	Missense_Mutation	SNP	T	TCGA-BR-8363-01A-11D-2340-08	192492	150348782	4921778	1407	53618											
CNGA2	1260	broad.mit.edu	37	chrX	150911720	150911720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgaggtgcgcttcaacCgcctgctgcactttgcccgc	11	17	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:150911720C>T	uc004fey.1	+	7	969	c.745C>T	c.(745-747)CGC>TGC	p.R249C		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	249	Extracellular (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GCGCTTCAACCGCCTGCTGCA	0.532													T	150911720	C	T	150911720	3	4	75	1	0	0	0	0	1	0	0	0	3597	652	23	1	767	1	CNGA2	23	150911720	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	562938	150911720	4358840	1408	53619											
MAGEA12	4111	broad.mit.edu	37	chrX	151899916	151899916	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtaggaaatgtgaggtccTccactgatctttagcaaatg	12	7	1	2			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:151899916T>C	uc010ntp.2	-	3	1239	c.885A>G	c.(883-885)GGA>GGG	p.G295G	MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Silent_p.G295G	NM_005367	NP_005358	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	295	MAGE.									skin(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					TGTGAGGTCCTCCACTGATCT	0.562													C	151899916	T	C	151899916	2	2	75	1	0	0	0	0	0	0	0	1	9166	1538	54	3		3	MAGEA12	23	151899916	Silent	SNP	T	TCGA-BR-8363-01A-11D-2340-08	988196	151899916	3370644	1409	53620											
PNMA5	114824	broad.mit.edu	37	chrX	152158876	152158876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctgcagcctgtggccCctccctgcctggagtctggt	11	17	2	0			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:152158876C>T	uc010ntw.2	-	3	1606	c.1267G>A	c.(1267-1269)GGG>AGG	p.G423R	PNMA5_uc004fha.3_Missense_Mutation_p.G423R|PNMA5_uc010ntx.2_Missense_Mutation_p.G423R|PNMA5_uc004fgy.3_Missense_Mutation_p.G423R	NM_001103151	NP_001096621	Q96PV4	PNMA5_HUMAN	paraneoplastic antigen like 5	423					apoptosis					ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGTGGCCCCTCCCTGCCT	0.602													T	152158876	C	T	152158876	3	4	75	1	0	0	0	0	1	0	0	0	12156	623	22	4	83	4	PNMA5	23	152158876	Missense_Mutation	SNP	C	TCGA-BR-8363-01A-11D-2340-08	258960	152158876	3111684	1410	53621											
PNMA3	29944	broad.mit.edu	37	chrX	152225667	152225668	+	Frame_Shift_Ins	INS	-	-	G													caagggaaataccaggaaagINSggggggccctgggaagtgat							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:152225666_152225667A>AG	uc022cho.1	+	0	254_255	c.254_255A>AG	c.(253-255)aagfs	p.K85fs	PNMA3_uc004fhc.2_Frame_Shift_Ins_p.K85fs|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	85					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ataccaggaaagggggggccct	0.53													G	152225668	-	G	152225667	7	5	75	1	0	1	1	0	0	0	0	0	12155	991	35	0	257	0	PNMA3	23	152225667	Frame_Shift_Ins	INS	-	TCGA-BR-8363-01A-11D-2340-08	66791	152225667	3044893	1411	53622											
HAUS7	55559	broad.mit.edu	37	chrX	152721222	152721222	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgctcatgctgtgcaaaGtactgcaaagccagaggcag	11	11	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:152721222G>A	uc004fho.1	-	8	1296	c.738C>T	c.(736-738)TAC>TAT	p.Y246Y	HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_Intron|HAUS7_uc004fhn.1_Silent_p.Y246Y|HAUS7_uc004fhp.1_Intron	NM_017518	NP_059988	Q99871	HAUS7_HUMAN	HAUS augmin-like complex subunit 7	246	Potential.				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding				0						GCTGTGCAAAGTACTGCAAAG	0.627													A	152721222	G	A	152721222	2	1	75	1	0	0	0	0	0	0	0	1	6971	1024	36	4		4	HAUS7	23	152721222	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	495555	152721222	2549338	1412	53623											
ATP2B3	492	broad.mit.edu	37	chrX	152822455	152822455	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacgatgggccggccctcAagaaggcggacgtgggcttc	15	13	1	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:152822455A>G	uc004fht.1	+	14	2533	c.2407A>G	c.(2407-2409)AAG>GAG	p.K803E	ATP2B3_uc004fhs.1_Missense_Mutation_p.K803E	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	803	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCGGCCCTCAAGAAGGCGGA	0.622													G	152822455	A	G	152822455	3	3	75	1	0	0	0	0	1	0	0	0	1141	131	5	3	2461	3	ATP2B3	23	152822455	Missense_Mutation	SNP	A	TCGA-BR-8363-01A-11D-2340-08	101233	152822455	2448105	1413	53624											
L1CAM	3897	broad.mit.edu	37	chrX	153132296	153132296	+	Frame_Shift_Del	DEL	G	G	-													ctgcacgcggtactgaacctGgggggcgttccagtccatcc							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:153132295_153132295TG>T	uc004fjb.3	-	17	2348	c.2240_2240CA>A	c.(2239-2241)cagfs	p.Q747fs	L1CAM_uc004fjc.3_Frame_Shift_Del_p.Q747fs|L1CAM_uc010nuo.3_Frame_Shift_Del_p.Q742fs	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	747	Fibronectin type-III 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTACTGAACCTGGGGGGCGTT	0.657													-	153132296	G	-	153132296	7	5	75	1	0	1	0	1	0	0	0	0	8588	1357	47	0	1578	0	L1CAM	23	153132296	Frame_Shift_Del	DEL	G	TCGA-BR-8363-01A-11D-2340-08	309841	153132296	2138264	1414	53625											
AVPR2	554	broad.mit.edu	37	chrX	153171758	153171758	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccacgtgtcagcagctgtGgccaagactgtgaggatgac	14	11	1	3			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:153171758G>T	uc004fjh.3	+	2	869	c.798G>T	c.(796-798)GTG>GTT	p.V266V	AVPR2_uc004fjg.3_Silent_p.V55V|AVPR2_uc004fji.2_Silent_p.V266V	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	266	Cytoplasmic (Potential).				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CAGCAGCTGTGGCCAAGACTG	0.672													T	153171758	G	T	153171758	2	4	75	1	0	0	0	0	0	0	0	1	1233	1335	47	5		5	AVPR2	23	153171758	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	39462	153171758	2098802	1415	53626											
TMEM187	8269	broad.mit.edu	37	chrX	153247849	153247849	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcagtggcgccgtgccgcGgtgctggaccagtggctcac	16	14	1	0	rs145557117	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:153247849G>A	uc004fjq.2	+	2	870	c.336G>A	c.(334-336)GCG>GCA	p.A112A	hsa-mir-3202-2|MI0014253_5'Flank	NM_003492	NP_003483	Q14656	TM187_HUMAN	transmembrane protein 187	112						integral to membrane|transport vesicle					0	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCGTGCCGCGGTGCTGGACC	0.682													A	153247849	G	A	153247849	2	1	75	1	0	0	0	0	0	0	0	1	16106	1103	39	1		1	TMEM187	23	153247849	Silent	SNP	G	TCGA-BR-8363-01A-11D-2340-08	76091	153247849	2022711	1416	53627											
SLC10A3	8273	broad.mit.edu	37	chrX	153716473	153716473	+	Frame_Shift_Del	DEL	C	C	-													aggaggctgaagaggtagctCcccccgccgccaggcgacga							TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:153716472_153716472TC>T	uc022cig.1	-	0	808	c.808_808GA>A	c.(808-810)agcfs	p.S270fs	UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Frame_Shift_Del_p.S241fs|SLC10A3_uc004flq.3_Frame_Shift_Del_p.S270fs|SLC10A3_uc004flp.3_Frame_Shift_Del_p.S270fs	NM_019848	NP_062822	P09131	P3_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA.	270					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGAGGTAGCTCCCCCCGCCG	0.612													-	153716473	C	-	153716473	7	5	75	1	0	1	0	1	0	0	0	0	14375	842	30	0	630	0	SLC10A3	23	153716473	Frame_Shift_Del	DEL	C	TCGA-BR-8363-01A-11D-2340-08	468624	153716473	1554087	1417	53628											
VAMP7	6845	broad.mit.edu	37	chrX	155127786	155127786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttttcaggattttgaacGttcccgagcctttaattttc	6	10	2	1			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:155127786G>A	uc004fnr.2	+	4	389	c.215G>A	c.(214-216)CGT>CAT	p.R72H	VAMP7_uc004fnt.2_Missense_Mutation_p.R31H|VAMP7_uc011naa.1_Missense_Mutation_p.R33H|VAMP7_uc011nab.1_5'UTR|VAMP7_uc004fns.2_Missense_Mutation_p.R72H|VAMP7_uc011nac.1_Missense_Mutation_p.R5H	NM_005638	NP_005629	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7 isoform 1	72	Longin.|Cytoplasmic (Potential).				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GATTTTGAACGTTCCCGAGCC	0.368													A	155127786	G	A	155127786	3	1	75	1	0	0	0	0	1	0	0	0	17114	1145	40	1	225	1	VAMP7	23	155127786	Missense_Mutation	SNP	G	TCGA-BR-8363-01A-11D-2340-08	1411313	155127786	142774	1418	53629											
CAP1	10487	broad.mit.edu	37	chr1	40536131	40536131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaacttggcctggtattcGatgacgtggtgggcattgtg	15	6	0	2			TCGA-BR-8364-01A-11D-2340-08	TCGA-BR-8364-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31604e3a-9873-4f4c-9e47-e503ee4503ad	a48dc850-ad6d-4715-bf12-610020a4f411	g.chr1:40536131G>A	uc001cfa.3	+	11	1376	c.1147G>A	c.(1147-1149)GAT>AAT	p.D383N	CAP1_uc001cey.3_Missense_Mutation_p.D383N|CAP1_uc001cez.3_Missense_Mutation_p.D383N|CAP1_uc009vvz.2_Missense_Mutation_p.D383N|CAP1_uc010oje.1_Missense_Mutation_p.D300N	NM_006367	NP_006358	Q01518	CAP1_HUMAN	adenylyl cyclase-associated protein	383	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			ovary(1)	1	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCTGGTATTCGATGACGTGGT	0.378													A	40536131	G	A	40536131	3	1	76	1	0	0	0	0	1	0	0	0	2619	1058	37	1	1185	1	CAP1	1	40536131	Missense_Mutation	SNP	G	TCGA-BR-8364-01A-11D-2340-08		40536131	208714490	1	53630											
SGIP1	84251	broad.mit.edu	37	chr1	67199453	67199453	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataatacacaaaatgatgccAataccaaggaattctgggta	7	7	1	1			TCGA-BR-8364-01A-11D-2340-08	TCGA-BR-8364-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31604e3a-9873-4f4c-9e47-e503ee4503ad	a48dc850-ad6d-4715-bf12-610020a4f411	g.chr1:67199453A>G	uc001dcr.2	+	21	2138	c.1921A>G	c.(1921-1923)AAT>GAT	p.N641D	SGIP1_uc010opd.1_Missense_Mutation_p.N241D|SGIP1_uc001dcs.2_Missense_Mutation_p.N241D|SGIP1_uc001dct.2_Missense_Mutation_p.N243D|SGIP1_uc009wat.2_Missense_Mutation_p.N435D|SGIP1_uc001dcu.2_Missense_Mutation_p.N146D	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	641					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						AAATGATGCCAATACCAAGGA	0.348													G	67199453	A	G	67199453	3	3	76	1	0	0	0	0	1	0	0	0	14206	130	5	3	2003	3	SGIP1	1	67199453	Missense_Mutation	SNP	A	TCGA-BR-8364-01A-11D-2340-08	26663322	67199453	182051168	2	53631											
GPR39	2863	broad.mit.edu	37	chr2	133174712	133174712	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccacctggatcaaaatcaccCttattctggtgtacctgatc	6	13	3	1			TCGA-BR-8364-01A-11D-2340-08	TCGA-BR-8364-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31604e3a-9873-4f4c-9e47-e503ee4503ad	a48dc850-ad6d-4715-bf12-610020a4f411	g.chr2:133174712C>G	uc002ttl.2	+	1	566	c.97C>G	c.(97-99)CTT>GTT	p.L33V		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	33	Helical; Name=1; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						CAAAATCACCCTTATTCTGGT	0.537													G	133174712	C	G	133174712	3	3	76	1	0	0	0	0	1	0	0	0	6693	681	24	5	99	5	GPR39	2	133174712	Missense_Mutation	SNP	C	TCGA-BR-8364-01A-11D-2340-08		133174712	110024661	3	53632											
ITIH1	3697	broad.mit.edu	37	chr3	52819116	52819116	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtggatttgcagtacccCcaggatgctgtcttggccct	12	11	1	0			TCGA-BR-8364-01A-11D-2340-08	TCGA-BR-8364-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31604e3a-9873-4f4c-9e47-e503ee4503ad	a48dc850-ad6d-4715-bf12-610020a4f411	g.chr3:52819116C>T	uc003dfs.2	+	12	1488	c.1464C>T	c.(1462-1464)CCC>CCT	p.P488P	ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Silent_p.P89P|ITIH1_uc010hmo.1_Silent_p.P42P|ITIH1_uc003dfu.2_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	488	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGCAGTACCCCCAGGATGCTG	0.562													T	52819116	C	T	52819116	2	4	76	1	0	0	0	0	0	0	0	1	7903	610	22	4		4	ITIH1	3	52819116	Silent	SNP	C	TCGA-BR-8364-01A-11D-2340-08		52819116	145203314	4	53633											
PHLDB2	90102	broad.mit.edu	37	chr3	111692580	111692580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttatctgtctttgcagaCaagcatgaaactaaattgaa	6	8	2	3			TCGA-BR-8364-01A-11D-2340-08	TCGA-BR-8364-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31604e3a-9873-4f4c-9e47-e503ee4503ad	a48dc850-ad6d-4715-bf12-610020a4f411	g.chr3:111692580C>T	uc010hqa.2	+	17	3948	c.3537C>T	c.(3535-3537)GAC>GAT	p.D1179D	PHLDB2_uc003dyc.2_Silent_p.D1163D|PHLDB2_uc003dyd.2_Silent_p.D1136D|PHLDB2_uc003dyg.2_Silent_p.D1179D|PHLDB2_uc003dyh.2_Silent_p.D1136D|PHLDB2_uc003dyi.2_Silent_p.D670D|PHLDB2_uc003dyj.2_Silent_p.D234D	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	1179	PH.					cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						TCTTTGCAGACAAGCATGAAA	0.254													T	111692580	C	T	111692580	2	4	76	1	0	0	0	0	0	0	0	1	11852	492	17	4		4	PHLDB2	3	111692580	Silent	SNP	C	TCGA-BR-8364-01A-11D-2340-08	58873464	111692580	86329850	5	53634											
PIK3CB	5291	broad.mit.edu	37	chr3	138374293	138374293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactttagtagtccagctttCcctgagcgcctcatcaaatt	6	13	2	1			TCGA-BR-8364-01A-11D-2340-08	TCGA-BR-8364-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31604e3a-9873-4f4c-9e47-e503ee4503ad	a48dc850-ad6d-4715-bf12-610020a4f411	g.chr3:138374293C>T	uc011bmq.1	-	22	3151	c.3151G>A	c.(3151-3153)GAA>AAA	p.E1051K	PIK3CB_uc011bmn.1_Missense_Mutation_p.E563K|PIK3CB_uc011bmo.1_Missense_Mutation_p.E502K|PIK3CB_uc011bmp.1_Missense_Mutation_p.E638K|PIK3CB_uc003est.1_RNA	NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	1051	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						GTCCAGCTTTCCCTGAGCGCC	0.423													T	138374293	C	T	138374293	3	4	76	1	0	0	0	0	1	0	0	0	11914	864	30	4	63	4	PIK3CB	3	138374293	Missense_Mutation	SNP	C	TCGA-BR-8364-01A-11D-2340-08	26681713	138374293	59648137	6	53635											
PCDHB12	56124	broad.mit.edu	37	chr5	140588900	140588900	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggaaaaagaaatgctcttaGaaatcccagagaacagtcct	8	8	1	3			TCGA-BR-8364-01A-11D-2340-08	TCGA-BR-8364-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31604e3a-9873-4f4c-9e47-e503ee4503ad	a48dc850-ad6d-4715-bf12-610020a4f411	g.chr5:140588900G>C	uc003liz.2	+	1	610	c.421G>C	c.(421-423)GAA>CAA	p.E141Q	PCDHB12_uc011dak.1_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	141	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGCTCTTAGAAATCCCAGA	0.393													C	140588900	G	C	140588900	3	2	76	1	0	0	0	0	1	0	0	0	11537	943	33	5	423	5	PCDHB12	5	140588900	Missense_Mutation	SNP	G	TCGA-BR-8364-01A-11D-2340-08		140588900	40326360	7	53636											
TTBK1	84630	broad.mit.edu	37	chr6	43214429	43214429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagcggccgcccttaaggacGaaaccaacatgagtggggga	14	10	0	1			TCGA-BR-8364-01A-11D-2340-08	TCGA-BR-8364-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31604e3a-9873-4f4c-9e47-e503ee4503ad	a48dc850-ad6d-4715-bf12-610020a4f411	g.chr6:43214429G>A	uc003ouq.1	+	2	310	c.31G>A	c.(31-33)GAA>AAA	p.E11K		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	11						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCTTAAGGACGAAACCAACAT	0.667													A	43214429	G	A	43214429	3	1	76	1	0	0	0	0	1	0	0	0	16673	1059	37	1	33	1	TTBK1	6	43214429	Missense_Mutation	SNP	G	TCGA-BR-8364-01A-11D-2340-08		43214429	127900638	8	53637											
COL12A1	1303	broad.mit.edu	37	chr6	75884763	75884763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggtaattaccttcaagtgTtgttccttcaccaaagaggg	9	8	2	1			TCGA-BR-8364-01A-11D-2340-08	TCGA-BR-8364-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31604e3a-9873-4f4c-9e47-e503ee4503ad	a48dc850-ad6d-4715-bf12-610020a4f411	g.chr6:75884763T>C	uc003phs.2	-	13	2867	c.2701A>G	c.(2701-2703)ACA>GCA	p.T901A	COL12A1_uc003pht.2_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	901	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CCTTCAAGTGTTGTTCCTTCA	0.453													C	75884763	T	C	75884763	3	2	76	1	0	0	0	0	1	0	0	0	3669	1725	60	3	6706	3	COL12A1	6	75884763	Missense_Mutation	SNP	T	TCGA-BR-8364-01A-11D-2340-08	32670334	75884763	95230304	9	53638											
COL28A1	340267	broad.mit.edu	37	chr7	7412686	7412686	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctctgggtcagtagcaattaGattcatttctttgtggaata	9	6	4	1			TCGA-BR-8364-01A-11D-2340-08	TCGA-BR-8364-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31604e3a-9873-4f4c-9e47-e503ee4503ad	a48dc850-ad6d-4715-bf12-610020a4f411	g.chr7:7412686G>A	uc003src.1	-	32	2968	c.2851C>T	c.(2851-2853)CTA>TTA	p.L951L	COL28A1_uc011jxe.1_Silent_p.L634L	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	951	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GTAGCAATTAGATTCATTTCT	0.418													A	7412686	G	A	7412686	2	1	76	1	0	0	0	0	0	0	0	1	3686	933	33	4		4	COL28A1	7	7412686	Silent	SNP	G	TCGA-BR-8364-01A-11D-2340-08		7412686	151725977	10	53639											
PHYHIP	9796	broad.mit.edu	37	chr8	22079030	22079030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgaggtcctgggcgtggcGgaagaccagctccccatcct	14	13	0	2			TCGA-BR-8364-01A-11D-2340-08	TCGA-BR-8364-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31604e3a-9873-4f4c-9e47-e503ee4503ad	a48dc850-ad6d-4715-bf12-610020a4f411	g.chr8:22079030G>A	uc003xbk.3	-	6	1523	c.829C>T	c.(829-831)CGC>TGC	p.R277C	PHYHIP_uc003xbj.3_Missense_Mutation_p.R277C	NM_001099335	NP_001092805	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	277											0				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TGGGCGTGGCGGAAGACCAGC	0.642													A	22079030	G	A	22079030	3	1	76	1	0	0	0	0	1	0	0	0	11866	1116	39	1	167	1	PHYHIP	8	22079030	Missense_Mutation	SNP	G	TCGA-BR-8364-01A-11D-2340-08		22079030	124284992	11	53640											
RIMS2	9699	broad.mit.edu	37	chr8	105257239	105257239	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgactcgacaggcaagcCgagagtctacagatggtagc	14	9	1	3			TCGA-BR-8364-01A-11D-2340-08	TCGA-BR-8364-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31604e3a-9873-4f4c-9e47-e503ee4503ad	a48dc850-ad6d-4715-bf12-610020a4f411	g.chr8:105257239C>T	uc003yls.2	+	24	3725	c.3484C>T	c.(3484-3486)CGA>TGA	p.R1162*	RIMS2_uc003ylp.2_Nonsense_Mutation_p.R1144*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R1151*|RIMS2_uc003ylq.2_Nonsense_Mutation_p.R958*|RIMS2_uc003ylr.2_Nonsense_Mutation_p.R983*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1206					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACAGGCAAGCCGAGAGTCTAC	0.507										HNSCC(12;0.0054)			T	105257239	C	T	105257239	4	4	76	1	0	0	0	0	0	1	0	0	13368	644	23	1	3704	1	RIMS2	8	105257239	Nonsense_Mutation	SNP	C	TCGA-BR-8364-01A-11D-2340-08	83178209	105257239	41106783	12	53641											
IPPK	64768	broad.mit.edu	37	chr9	95396678	95396678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgcccaccttcgttagcGcgaaggccactgtcccgtca	10	16	2	0			TCGA-BR-8364-01A-11D-2340-08	TCGA-BR-8364-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31604e3a-9873-4f4c-9e47-e503ee4503ad	a48dc850-ad6d-4715-bf12-610020a4f411	g.chr9:95396678G>A	uc004asl.1	-	11	1437	c.1160C>T	c.(1159-1161)GCG>GTG	p.A387V	IPPK_uc004ask.1_Missense_Mutation_p.A86V	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	387					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			ovary(2)	2						CTTCGTTAGCGCGAAGGCCAC	0.408											OREG0019315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	95396678	G	A	95396678	3	1	76	1	0	0	0	0	1	0	0	0	7801	1087	38	1	327	1	IPPK	9	95396678	Missense_Mutation	SNP	G	TCGA-BR-8364-01A-11D-2340-08		95396678	45816753	13	53642											
COL5A1	1289	broad.mit.edu	37	chr9	137622102	137622102	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgaccccgacccccacGgaagctgctcccatgcctga	10	18	0	2	rs149123775		TCGA-BR-8364-01A-11D-2340-08	TCGA-BR-8364-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31604e3a-9873-4f4c-9e47-e503ee4503ad	a48dc850-ad6d-4715-bf12-610020a4f411	g.chr9:137622102G>A	uc004cfe.2	+	7	1327	c.945G>A	c.(943-945)ACG>ACA	p.T315T		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	315	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGACCCCCACGGAAGCTGCTC	0.642													A	137622102	G	A	137622102	2	1	76	1	0	0	0	0	0	0	0	1	3696	1103	39	1		1	COL5A1	9	137622102	Silent	SNP	G	TCGA-BR-8364-01A-11D-2340-08	42225424	137622102	3591329	14	53643											
OR4X1	390113	broad.mit.edu	37	chr11	48286169	48286169	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acctgttcttcataccttgcTccttggtctatattaggccc	6	13	3	0			TCGA-BR-8364-01A-11D-2340-08	TCGA-BR-8364-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31604e3a-9873-4f4c-9e47-e503ee4503ad	a48dc850-ad6d-4715-bf12-610020a4f411	g.chr11:48286169T>A	uc010rht.1	+	1	757	c.757T>A	c.(757-759)TCC>ACC	p.S253T		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X,	253	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3						CATACCTTGCTCCTTGGTCTA	0.502													A	48286169	T	A	48286169	3	1	76	1	0	0	0	0	1	0	0	0	11084	1551	54	5	759	5	OR4X1	11	48286169	Missense_Mutation	SNP	T	TCGA-BR-8364-01A-11D-2340-08		48286169	86720347	15	53644											
PC	5091	broad.mit.edu	37	chr11	66639596	66639597	+	Frame_Shift_Del	DEL	CT	CT	-													ttcggcggattcccaggagcCtcaggcccccatggactgtt							TCGA-BR-8364-01A-11D-2340-08	TCGA-BR-8364-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31604e3a-9873-4f4c-9e47-e503ee4503ad	a48dc850-ad6d-4715-bf12-610020a4f411	g.chr11:66639596_66639597delCT	uc001ojn.1	-	2	83_84	c.34_35delAG	c.(34-36)AGGfs	p.R12fs	PC_uc001ojo.1_Frame_Shift_Del_p.R12fs|PC_uc001ojp.1_Frame_Shift_Del_p.R12fs	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	12					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TCCCAGGAGCCTCAGGCCCCCA	0.599													-	66639597	CT	-	66639596	7	5	76	1	0	1	0	1	0	0	0	0	11497	681	24	0	3581	0	PC	11	66639596	Frame_Shift_Del	DEL	CT	TCGA-BR-8364-01A-11D-2340-08	18353427	66639596	68366920	16	53645											
KIAA1199	57214	broad.mit.edu	37	chr15	81225778	81225778	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgactggagaggggccAtttgcagtgggtgctatgca	15	9	0	1			TCGA-BR-8364-01A-11D-2340-08	TCGA-BR-8364-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31604e3a-9873-4f4c-9e47-e503ee4503ad	a48dc850-ad6d-4715-bf12-610020a4f411	g.chr15:81225778A>G	uc002bfw.1	+	22	3246	c.2986A>G	c.(2986-2988)ATT>GTT	p.I996V	KIAA1199_uc010unn.1_Missense_Mutation_p.I996V	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	996										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						GAGAGGGGCCATTTGCAGTGG	0.483													G	81225778	A	G	81225778	3	3	76	1	0	0	0	0	1	0	0	0	8213	217	8	3	3068	3	KIAA1199	15	81225778	Missense_Mutation	SNP	A	TCGA-BR-8364-01A-11D-2340-08		81225778	21305614	17	53646											
CDH1	999	broad.mit.edu	37	chr16	68842463	68842463	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcccatttcctaaaaaccTggttcaggtagagaaagaag	10	8	1	2			TCGA-BR-8364-01A-11D-2340-08	TCGA-BR-8364-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31604e3a-9873-4f4c-9e47-e503ee4503ad	a48dc850-ad6d-4715-bf12-610020a4f411	g.chr16:68842463T>C	uc002ewg.1	+	4	648	c.524T>C	c.(523-525)CTG>CCG	p.L175P	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.L175P	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	175	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.V157_Q177del(1)|p.N174fs*38(1)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CCTAAAAACCTGGTTCAGGTA	0.473			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				C	68842463	T	C	68842463	3	2	76	1	0	0	0	0	1	0	0	0	3095	1580	55	3	538	3	CDH1	16	68842463	Missense_Mutation	SNP	T	TCGA-BR-8364-01A-11D-2340-08		68842463	21512290	18	53647											
AATK	9625	broad.mit.edu	37	chr17	79094536	79094536	+	Frame_Shift_Del	DEL	G	G	-													aggggcaggtgctgggctctGgggaggacccttcaagctgc							TCGA-BR-8364-01A-11D-2340-08	TCGA-BR-8364-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31604e3a-9873-4f4c-9e47-e503ee4503ad	a48dc850-ad6d-4715-bf12-610020a4f411	g.chr17:79094536delG	uc010dia.2	-	11	3280	c.3200delC	c.(3199-3201)CCAfs	p.P1067fs	AATK_uc010dhz.2_Intron	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1067	Pro-rich.					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCTGGGCTCTGGGGAGGACCC	0.706													-	79094536	G	-	79094536	7	5	76	1	0	1	0	1	0	0	0	0	26	1348	47	0	940	0	AATK	17	79094536	Frame_Shift_Del	DEL	G	TCGA-BR-8364-01A-11D-2340-08		79094536	2100674	19	53648											
ZNF521	25925	broad.mit.edu	37	chr18	22807194	22807194	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctggaaccggactgagagcCgtccttgttcctctcatgaa	10	13	1	2			TCGA-BR-8364-01A-11D-2340-08	TCGA-BR-8364-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31604e3a-9873-4f4c-9e47-e503ee4503ad	a48dc850-ad6d-4715-bf12-610020a4f411	g.chr18:22807194C>G	uc002kvk.2	-	4	935	c.688G>C	c.(688-690)GGC>CGC	p.G230R	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.G230R|ZNF521_uc002kvl.2_Missense_Mutation_p.G10R	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	230					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GACTGAGAGCCGTCCTTGTTC	0.512			T	PAX5	ALL								G	22807194	C	G	22807194	3	3	76	1	0	0	0	0	1	0	0	0	17962	652	23	5	3267	5	ZNF521	18	22807194	Missense_Mutation	SNP	C	TCGA-BR-8364-01A-11D-2340-08		22807194	55270054	20	53649											
LPPR3	79948	broad.mit.edu	37	chr19	815788	815788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaagcccaccttggccgGcttgaagaggtcggtcagct	14	12	1	2			TCGA-BR-8364-01A-11D-2340-08	TCGA-BR-8364-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31604e3a-9873-4f4c-9e47-e503ee4503ad	a48dc850-ad6d-4715-bf12-610020a4f411	g.chr19:815788G>A	uc002lpx.1	-	3	203	c.139C>T	c.(139-141)CCG>TCG	p.P47S	LPPR3_uc010dru.1_5'Flank|LPPR3_uc002lpw.1_Missense_Mutation_p.P47S|LPPR3_uc002lpy.1_5'UTR	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	plasticity-related protein 2	47						integral to membrane	phosphatidate phosphatase activity				0						ACCTTGGCCGGCTTGAAGAGG	0.597													A	815788	G	A	815788	3	1	76	1	0	0	0	0	1	0	0	0	8926	1203	42	2	2121	2	LPPR3	19	815788	Missense_Mutation	SNP	G	TCGA-BR-8364-01A-11D-2340-08		815788	58313195	21	53650											
UPF1	5976	broad.mit.edu	37	chr19	18956872	18956872	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttgttggctgagttgaacttCgaggaagatgaagaagacac	13	5	0	6			TCGA-BR-8364-01A-11D-2340-08	TCGA-BR-8364-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31604e3a-9873-4f4c-9e47-e503ee4503ad	a48dc850-ad6d-4715-bf12-610020a4f411	g.chr19:18956872C>G	uc002nkg.2	+	2	590	c.315C>G	c.(313-315)TTC>TTG	p.F105L	UPF1_uc002nkf.2_Missense_Mutation_p.F105L	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	105	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						AGTTGAACTTCGAGGAAGATG	0.582													G	18956872	C	G	18956872	3	3	76	1	0	0	0	0	1	0	0	0	17000	883	31	5	321	5	UPF1	19	18956872	Missense_Mutation	SNP	C	TCGA-BR-8364-01A-11D-2340-08	18141084	18956872	40172111	22	53651											
SIGLEC1	6614	broad.mit.edu	37	chr20	3672111	3672111	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtgggcacaggctccgcGtgcagccgccggtcattcca	14	14	1	1			TCGA-BR-8364-01A-11D-2340-08	TCGA-BR-8364-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31604e3a-9873-4f4c-9e47-e503ee4503ad	a48dc850-ad6d-4715-bf12-610020a4f411	g.chr20:3672111G>A	uc002wja.2	-	17	4467	c.4467C>T	c.(4465-4467)CAC>CAT	p.H1489H	SIGLEC1_uc002wjb.1_Silent_p.H128H|SIGLEC1_uc002wiz.3_Silent_p.H1489H	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1489	Ig-like C2-type 15.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						CAGGCTCCGCGTGCAGCCGCC	0.672													A	3672111	G	A	3672111	2	1	76	1	0	0	0	0	0	0	0	1	14305	1136	40	1		1	SIGLEC1	20	3672111	Silent	SNP	G	TCGA-BR-8364-01A-11D-2340-08		3672111	59353409	23	53652											
SIK1	150094	broad.mit.edu	37	chr21	44836942	44836942	+	Frame_Shift_Del	DEL	G	G	-													aaacggggcaggggccggctGgggggcctgggagcagccgg							TCGA-BR-8364-01A-11D-2340-08	TCGA-BR-8364-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31604e3a-9873-4f4c-9e47-e503ee4503ad	a48dc850-ad6d-4715-bf12-610020a4f411	g.chr21:44836942delG	uc002zdf.2	-	14	2159	c.2032delC	c.(2032-2034)CAGfs	p.Q678fs		NM_173354	NP_775490	P57059	SIK1_HUMAN	salt-inducible kinase 1	678					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1)	7						GGGGCCGGCTGGGGGGCCTGG	0.736													-	44836942	G	-	44836942	7	5	76	1	0	1	0	1	0	0	0	0	14317	1357	47	0	323	0	SIK1	21	44836942	Frame_Shift_Del	DEL	G	TCGA-BR-8364-01A-11D-2340-08		44836942	3292953	24	53653											
ARID1A	8289	broad.mit.edu	37	chr1	27057722	27057723	+	Frame_Shift_Ins	INS	-	-	A													tacaaccagcaaagtcctcaINSccctcagcagcagcagccac							TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr1:27057721_27057722C>CA	uc001bmv.1	+	2	1802_1803	c.1429_1430C>CA	c.(1429-1431)cacfs	p.H477fs	ARID1A_uc001bmt.1_Frame_Shift_Ins_p.H477fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.H477fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.H94fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	477					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAAAGTCCTCACCCTCAGCAG	0.545			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								A	27057723	-	A	27057722	7	5	77	1	0	1	1	0	0	0	0	0	913	159	6	0	1440	0	ARID1A	1	27057722	Frame_Shift_Ins	INS	-	TCGA-BR-8365-01A-21D-2340-08		27057722	222192899	1	53654											
SPAG17	200162	broad.mit.edu	37	chr1	118550748	118550748	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctactgtcctcacagttggcGataacagtggcatagcgtga	11	10	1	1			TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr1:118550748G>A	uc001ehk.2	-	31	4574	c.4506C>T	c.(4504-4506)ATC>ATT	p.I1502I		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1502						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CACAGTTGGCGATAACAGTGG	0.502													A	118550748	G	A	118550748	2	1	77	1	0	0	0	0	0	0	0	1	14979	1048	37	1		1	SPAG17	1	118550748	Silent	SNP	G	TCGA-BR-8365-01A-21D-2340-08	91493026	118550748	130699873	2	53655											
CFH	3075	broad.mit.edu	37	chr1	196696029	196696029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattggacacagatcaattaCgtgtattcatggagtatgga	11	5	2	1			TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr1:196696029C>T	uc001gtj.3	+	14	2435	c.2195C>T	c.(2194-2196)ACG>ATG	p.T732M		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	732	Sushi 12.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						AGATCAATTACGTGTATTCAT	0.383													T	196696029	C	T	196696029	3	4	77	1	0	0	0	0	1	0	0	0	3283	536	19	1	2267	1	CFH	1	196696029	Missense_Mutation	SNP	C	TCGA-BR-8365-01A-21D-2340-08	78145281	196696029	52554592	3	53656											
GALNT13	114805	broad.mit.edu	37	chr2	155099307	155099307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgggttaatacgtgcccGtcttcgaggagcagctgctt	12	11	2	0			TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr2:155099307G>A	uc002tyr.3	+	6	1142	c.575G>A	c.(574-576)CGT>CAT	p.R192H	GALNT13_uc002tyt.3_Missense_Mutation_p.R192H|GALNT13_uc010foc.1_Missense_Mutation_p.R11H	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	192	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						ATACGTGCCCGTCTTCGAGGA	0.423													A	155099307	G	A	155099307	3	1	77	1	0	0	0	0	1	0	0	0	6211	1145	40	1	589	1	GALNT13	2	155099307	Missense_Mutation	SNP	G	TCGA-BR-8365-01A-21D-2340-08		155099307	88100066	4	53657											
CERKL	375298	broad.mit.edu	37	chr2	182409462	182409462	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcatatcttttcaggtgttTtataaattctggccgagaag	10	6	3	1			TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr2:182409462T>G	uc002unx.2	-	12	1509	c.1408A>C	c.(1408-1410)AAA>CAA	p.K470Q	CERKL_uc002uny.2_Missense_Mutation_p.K444Q|CERKL_uc010zfm.1_Missense_Mutation_p.K426Q|CERKL_uc002unz.2_Missense_Mutation_p.K192Q|CERKL_uc002uoa.2_Missense_Mutation_p.K375Q|CERKL_uc002uob.2_Missense_Mutation_p.K192Q|CERKL_uc002uoc.2_Missense_Mutation_p.K331Q|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Missense_Mutation_p.K239Q|CERKL_uc002unw.2_Missense_Mutation_p.K40Q	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	ceramide kinase-like isoform b	470					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTCAGGTGTTTTATAAATTCT	0.289													G	182409462	T	G	182409462	3	3	77	1	0	0	0	0	1	0	0	0	3268	1850	64	5	280	5	CERKL	2	182409462	Missense_Mutation	SNP	T	TCGA-BR-8365-01A-21D-2340-08	27310155	182409462	60789911	5	53658											
CLK1	1195	broad.mit.edu	37	chr2	201722526	201722526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattttctttaatgaagtcGtaagtactaagtcccaatag	6	8	1	1			TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr2:201722526G>A	uc002uwe.2	-	7	928	c.747C>T	c.(745-747)TAC>TAT	p.Y249Y	CLK1_uc002uwd.2_Silent_p.Y72Y|CLK1_uc010zhi.1_Silent_p.Y291Y|CLK1_uc002uwf.2_Silent_p.Y23Y|CLK1_uc002uwg.2_Silent_p.Y98Y|CLK1_uc010fsv.2_RNA	NM_004071	NP_004062	P49759	CLK1_HUMAN	CDC-like kinase 1 isoform 1	249	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			pancreas(2)	2						TAATGAAGTCGTAAGTACTAA	0.363													A	201722526	G	A	201722526	2	1	77	1	0	0	0	0	0	0	0	1	3536	1140	40	1		1	CLK1	2	201722526	Silent	SNP	G	TCGA-BR-8365-01A-21D-2340-08	19313064	201722526	41476847	6	53659											
HJURP	55355	broad.mit.edu	37	chr2	234749948	234749948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcacttaaactttttgctTttgctttgctggaaggtaaa	7	8	1	0			TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr2:234749948T>C	uc002vvg.2	-	8	1544	c.1478A>G	c.(1477-1479)AAA>AGA	p.K493R	HJURP_uc010znd.1_Missense_Mutation_p.K432R|HJURP_uc010zne.1_Missense_Mutation_p.K401R	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	493					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ACTTTTTGCTTTTGCTTTGCT	0.502													C	234749948	T	C	234749948	3	2	77	1	0	0	0	0	1	0	0	0	7189	1841	64	3	776	3	HJURP	2	234749948	Missense_Mutation	SNP	T	TCGA-BR-8365-01A-21D-2340-08	33027422	234749948	8449425	7	53660											
ASTE1	28990	broad.mit.edu	37	chr3	130737361	130737361	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttacctaccagggctgttgAttatggcaatcaagggcccc	11	11	1	1			TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr3:130737361A>C	uc003env.1	-	4	1944	c.1502T>G	c.(1501-1503)ATC>AGC	p.I501S	ASTE1_uc010htm.1_Missense_Mutation_p.I501S|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	501					DNA repair		nuclease activity				0						AGGGCTGTTGATTATGGCAAT	0.433													C	130737361	A	C	130737361	3	2	77	1	0	0	0	0	1	0	0	0	1062	333	12	5	549	5	ASTE1	3	130737361	Missense_Mutation	SNP	A	TCGA-BR-8365-01A-21D-2340-08		130737361	67285069	8	53661											
GPR87	53836	broad.mit.edu	37	chr3	151012949	151012949	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtgttctttcctggccCgtcgctcctgttgcctgaat	12	12	1	1			TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr3:151012949C>G	uc003eyt.2	-	3	446	c.85G>C	c.(85-87)GGG>CGG	p.G29R	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	29	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTCCTGGCCCGTCGCTCCTG	0.483													G	151012949	C	G	151012949	3	3	77	1	0	0	0	0	1	0	0	0	6716	652	23	5	995	5	GPR87	3	151012949	Missense_Mutation	SNP	C	TCGA-BR-8365-01A-21D-2340-08	20275588	151012949	47009481	9	53662											
HDAC3	8841	broad.mit.edu	37	chr5	141014457	141014457	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctgactctctgcaggaagtCaatgtagtcctcggagtgga	13	9	2	1			TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr5:141014457C>T	uc003llf.2	-	3	268	c.202G>A	c.(202-204)GAC>AAC	p.D68N	HDAC3_uc003lle.1_Missense_Mutation_p.D11N|HDAC3_uc010jgd.1_Intron|HDAC3_uc010jge.1_Intron|RELL2_uc003lli.2_5'Flank|RELL2_uc003llh.2_5'Flank|RELL2_uc003llg.2_5'Flank|RELL2_uc010jgf.2_5'Flank	NM_003883	NP_003874	O15379	HDAC3_HUMAN	histone deacetylase 3	68	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	TGCAGGAAGTCAATGTAGTCC	0.542													T	141014457	C	T	141014457	3	4	77	1	0	0	0	0	1	0	0	0	7008	826	29	4	1136	4	HDAC3	5	141014457	Missense_Mutation	SNP	C	TCGA-BR-8365-01A-21D-2340-08		141014457	39900803	10	53663											
DDX56	54606	broad.mit.edu	37	chr7	44611094	44611094	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgttggctgtggcagacctgGagcgcagtggaagctctcca	15	10	1	1			TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr7:44611094G>T	uc003tlg.2	-	6	1530	c.887C>A	c.(886-888)TCC>TAC	p.S296Y	DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Missense_Mutation_p.S232Y|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Missense_Mutation_p.S296Y|DDX56_uc010kyh.1_RNA	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 56	296	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			upper_aerodigestive_tract(1)	1						GGCAGACCTGGAGCGCAGTGG	0.438													T	44611094	G	T	44611094	3	4	77	1	0	0	0	0	1	0	0	0	4374	1174	41	5	792	5	DDX56	7	44611094	Missense_Mutation	SNP	G	TCGA-BR-8365-01A-21D-2340-08		44611094	114527569	11	53664											
FBXL13	222235	broad.mit.edu	37	chr7	102572363	102572363	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagagacattcaactcttGcaagttcctacagtggccta	8	11	3	1	rs149803390		TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr7:102572363G>A	uc003vaq.2	-	9	1169	c.742C>T	c.(742-744)CAA>TAA	p.Q248*	FBXL13_uc010liq.1_Nonsense_Mutation_p.Q63*|FBXL13_uc010lir.1_Nonsense_Mutation_p.Q248*|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Nonsense_Mutation_p.Q248*|LRRC17_uc003vat.2_Intron|LRRC17_uc003vau.2_Intron	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	248	LRR 1.										0						TTCAACTCTTGCAAGTTCCTA	0.353													A	102572363	G	A	102572363	4	1	77	1	0	0	0	0	0	1	0	0	5709	1328	46	2	1513	2	FBXL13	7	102572363	Nonsense_Mutation	SNP	G	TCGA-BR-8365-01A-21D-2340-08	57961269	102572363	56566300	12	53665											
XKR6	286046	broad.mit.edu	37	chr8	10755990	10755990	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcataggagtcagtggtctcCgggtctctgtaaaaatacca	11	9	3	0			TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr8:10755990C>T	uc003wtk.1	-	3	1425	c.1398G>A	c.(1396-1398)CCG>CCA	p.P466P		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	466						integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CAGTGGTCTCCGGGTCTCTGT	0.473													T	10755990	C	T	10755990	2	4	77	1	0	0	0	0	0	0	0	1	17432	639	23	1		1	XKR6	8	10755990	Silent	SNP	C	TCGA-BR-8365-01A-21D-2340-08		10755990	135608032	13	53666											
NCALD	83988	broad.mit.edu	37	chr8	102731642	102731642	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcccatctccatttgcatcGaaggtgcggaagacatgctc	10	12	1	1			TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr8:102731642G>A	uc003yke.2	-	2	585	c.216C>T	c.(214-216)TTC>TTT	p.F72F	NCALD_uc003ykf.2_Silent_p.F72F|NCALD_uc003ykg.2_Silent_p.F72F|NCALD_uc003ykh.2_Silent_p.F72F|NCALD_uc003yki.2_Silent_p.F72F|NCALD_uc003ykj.2_Silent_p.F72F|NCALD_uc003ykk.2_Silent_p.F72F|NCALD_uc003ykl.2_Silent_p.F72F	NM_032041	NP_114430	P61601	NCALD_HUMAN	neurocalcin delta	72	EF-hand 2.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding				0	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			CATTTGCATCGAAGGTGCGGA	0.443													A	102731642	G	A	102731642	2	1	77	1	0	0	0	0	0	0	0	1	10201	1049	37	1		1	NCALD	8	102731642	Silent	SNP	G	TCGA-BR-8365-01A-21D-2340-08	91975652	102731642	43632380	14	53667											
SEC16A	9919	broad.mit.edu	37	chr9	139370971	139370971	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccagagctcctgaagctcctGagtctgcttctagcggggca	12	13	2	3			TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr9:139370971G>A	uc004chx.2	-	3	1406	c.1097C>T	c.(1096-1098)TCA>TTA	p.S366L	SEC16A_uc004chv.3_5'Flank|SEC16A_uc004chw.2_Missense_Mutation_p.S366L|SEC16A_uc010nbn.2_Missense_Mutation_p.S366L|SEC16A_uc010nbo.1_Missense_Mutation_p.S366L	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	188					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TGAAGCTCCTGAGTCTGCTTC	0.582													A	139370971	G	A	139370971	3	1	77	1	0	0	0	0	1	0	0	0	13986	1294	45	4	6096	4	SEC16A	9	139370971	Missense_Mutation	SNP	G	TCGA-BR-8365-01A-21D-2340-08		139370971	1842460	15	53668											
DENND5A	23258	broad.mit.edu	37	chr11	9199806	9199806	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acagggtctttatcatcatcAtcatgacacattattttgtt	5	8	5	1			TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr11:9199806A>T	uc001mhl.2	-	8	2034	c.1779T>A	c.(1777-1779)GAT>GAA	p.D593E	DENND5A_uc010rbw.1_Missense_Mutation_p.D593E|DENND5A_uc010rbx.1_RNA	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	593	Poly-Asp.									liver(1)	1						TATCATCATCATCATGACACA	0.458													T	9199806	A	T	9199806	3	4	77	1	0	0	0	0	1	0	0	0	4436	214	8	5	2148	5	DENND5A	11	9199806	Missense_Mutation	SNP	A	TCGA-BR-8365-01A-21D-2340-08		9199806	125806710	16	53669											
MDM2	4193	broad.mit.edu	37	chr12	69230464	69230464	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttattaggtatatcaagttActgtgtatcaggcaggggag	12	4	2	0			TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr12:69230464A>C	uc001sui.2	+	10	1140	c.853A>C	c.(853-855)ACT>CCT	p.T285P	MDM2_uc009zri.2_Missense_Mutation_p.T240P|MDM2_uc009zqx.2_Missense_Mutation_p.T230P|MDM2_uc009zqw.2_Intron|MDM2_uc001suk.2_Intron|MDM2_uc001sun.3_Missense_Mutation_p.T104P|MDM2_uc009zqz.2_Missense_Mutation_p.T232P|MDM2_uc009zra.2_Intron|MDM2_uc001sum.1_Intron|MDM2_uc009zrd.2_5'UTR|MDM2_uc009zrc.2_Intron|MDM2_uc009zre.2_Intron|MDM2_uc009zrf.2_Intron|MDM2_uc001suo.2_Missense_Mutation_p.T79P|MDM2_uc009zrg.2_Intron|MDM2_uc009zrh.2_Intron	NM_002392	NP_002383	Q00987	MDM2_HUMAN	mouse double minute 2 homolog isoform MDM2	279	Necessary for interaction with USP2.|ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP (By similarity).|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|central_nervous_system(1)	3	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATATCAAGTTACTGTGTATCA	0.323			A		sarcoma|glioma|colorectal|other								C	69230464	A	C	69230464	3	2	77	1	0	0	0	0	1	0	0	0	9413	391	14	5	891	5	MDM2	12	69230464	Missense_Mutation	SNP	A	TCGA-BR-8365-01A-21D-2340-08		69230464	64621431	17	53670											
CMKLR1	1240	broad.mit.edu	37	chr12	108686331	108686331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggagcacagagatgcagcGgtcagagctgatgatggtca	16	7	2	4	rs148287464	by1000genomes	TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr12:108686331G>A	uc009zuw.2	-	3	600	c.409C>T	c.(409-411)CGC>TGC	p.R137C	CMKLR1_uc001tmw.2_Missense_Mutation_p.R137C|CMKLR1_uc001tmv.2_Missense_Mutation_p.R135C|CMKLR1_uc009zuv.2_Missense_Mutation_p.R137C	NM_001142345	NP_001135817	Q99788	CML1_HUMAN	chemokine-like receptor 1 isoform a	137	Cytoplasmic (Potential).				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			lung(3)|ovary(1)|pancreas(1)	5						GAGATGCAGCGGTCAGAGCTG	0.557													A	108686331	G	A	108686331	3	1	77	1	0	0	0	0	1	0	0	0	3579	1116	39	1	716	1	CMKLR1	12	108686331	Missense_Mutation	SNP	G	TCGA-BR-8365-01A-21D-2340-08	39455867	108686331	25165564	18	53671											
SLITRK5	26050	broad.mit.edu	37	chr13	88329455	88329455	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcgctgagaccgacatgcgCtccattaagtcggagctgct	11	12	0	1			TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr13:88329455C>A	uc001vln.2	+	2	2031	c.1812C>A	c.(1810-1812)CGC>CGA	p.R604R	SLITRK5_uc010tic.1_Silent_p.R363R	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	604	LRRCT 2.|Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCGACATGCGCTCCATTAAGT	0.567													A	88329455	C	A	88329455	2	1	77	1	0	0	0	0	0	0	0	1	14746	784	28	5		5	SLITRK5	13	88329455	Silent	SNP	C	TCGA-BR-8365-01A-21D-2340-08		88329455	26840423	19	53672											
C14orf118	55668	broad.mit.edu	37	chr14	76620846	76620846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacgccgaggtcggaagcGtcgttctgacttcactcacc	11	13	3	1			TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr14:76620846G>A	uc001xsh.2	+	2	226	c.140G>A	c.(139-141)CGT>CAT	p.R47H	C14orf118_uc001xsi.2_Missense_Mutation_p.R47H|C14orf118_uc001xsj.1_Missense_Mutation_p.R47H|C14orf118_uc001xsk.1_Missense_Mutation_p.R47H|C14orf118_uc001xsl.2_RNA	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN	hypothetical protein LOC55668 isoform 1	47	Arg-rich.									ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.0172)		GGTCGGAAGCGTCGTTCTGAC	0.582													A	76620846	G	A	76620846	3	1	77	1	0	0	0	0	1	0	0	0	1741	1145	40	1	142	1	C14orf118	14	76620846	Missense_Mutation	SNP	G	TCGA-BR-8365-01A-21D-2340-08		76620846	30728694	20	53673											
SEPT12	124404	broad.mit.edu	37	chr16	4833960	4833960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgggtggtacaaagtacaCgcagcagtgcacccgggtgt	15	9	0	0	rs144420035	byFrequency	TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr16:4833960C>T	uc002cxq.2	-	5	625	c.484G>A	c.(484-486)GTG>ATG	p.V162M	SEPT12_uc002cxr.2_Intron|SEPT12_uc010bty.2_RNA	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	septin 12 isoform 2	162					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			skin(1)	1						ACAAAGTACACGCAGCAGTGC	0.632													T	4833960	C	T	4833960	3	4	77	1	0	0	0	0	1	0	0	0	14062	536	19	1	616	1	SEPT12	16	4833960	Missense_Mutation	SNP	C	TCGA-BR-8365-01A-21D-2340-08		4833960	85520793	21	53674											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	77	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-BR-8365-01A-21D-2340-08		56386384	24808826	22	53675											
KCNH6	81033	broad.mit.edu	37	chr17	61601589	61601589	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaactcttcggctactccCgagtggaggtgatgcagcaa	13	11	1	1			TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr17:61601589C>T	uc002jay.2	+	2	246	c.166C>T	c.(166-168)CGA>TGA	p.R56*	KCNH6_uc002jax.1_Nonsense_Mutation_p.R56*|KCNH6_uc010wpl.1_5'UTR|KCNH6_uc010wpm.1_Nonsense_Mutation_p.R56*|KCNH6_uc002jaz.1_Nonsense_Mutation_p.R56*	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	56	PAS.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	CGGCTACTCCCGAGTGGAGGT	0.617													T	61601589	C	T	61601589	4	4	77	1	0	0	0	0	0	1	0	0	8036	644	23	1	172	1	KCNH6	17	61601589	Nonsense_Mutation	SNP	C	TCGA-BR-8365-01A-21D-2340-08	5215205	61601589	19593621	23	53676											
PITPNC1	26207	broad.mit.edu	37	chr17	65628319	65628319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctttattgatattgcctgcGatgaaattccagagcgctac	9	9	0	3			TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr17:65628319G>A	uc002jgc.2	+	6	774	c.427G>A	c.(427-429)GAT>AAT	p.D143N	PITPNC1_uc002jgb.2_Missense_Mutation_p.D143N	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein,	143					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			skin(1)	1	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			TATTGCCTGCGATGAAATTCC	0.358													A	65628319	G	A	65628319	3	1	77	1	0	0	0	0	1	0	0	0	11949	1058	37	1	449	1	PITPNC1	17	65628319	Missense_Mutation	SNP	G	TCGA-BR-8365-01A-21D-2340-08	4026730	65628319	15566891	24	53677											
TUBB4	10382	broad.mit.edu	37	chr19	6495726	6495726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcatgaagaagtgcaggcGaggaaagggaaccatgttga	17	5	0	3			TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chr19:6495726G>A	uc002mfg.1	-	4	891	c.784C>T	c.(784-786)CGC>TGC	p.R262C	TUBB4_uc002mff.1_Missense_Mutation_p.R190C|MIR220B_hsa-mir-220b|MI0005529_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	262					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		AAGTGCAGGCGAGGAAAGGGA	0.677													A	6495726	G	A	6495726	3	1	77	1	0	0	0	0	1	0	0	0	16755	1058	37	1	554	1	TUBB4	19	6495726	Missense_Mutation	SNP	G	TCGA-BR-8365-01A-21D-2340-08		6495726	52633257	25	53678											
SATL1	340562	broad.mit.edu	37	chrX	84363373	84363373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacttgctggctgatgcctGgttgttgcacgcctggttgc	15	10	0	1			TCGA-BR-8365-01A-21D-2340-08	TCGA-BR-8365-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	094f7fc0-9c0c-4dad-aad5-d1b4d91b976a	10f5d5aa-736e-4108-a459-c3274df8814e	g.chrX:84363373G>A	uc011mqx.1	-	1	602	c.602C>T	c.(601-603)CCA>CTA	p.P201L	SATL1_uc004een.2_Missense_Mutation_p.P201L	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	14	Gln-rich.						N-acetyltransferase activity			breast(2)	2						GCTGATGCCTGGTTGTTGCAC	0.572													A	84363373	G	A	84363373	3	1	77	1	0	0	0	0	1	0	0	0	13855	1348	47	4	1316	4	SATL1	23	84363373	Missense_Mutation	SNP	G	TCGA-BR-8365-01A-21D-2340-08		84363373	70907187	26	53679											
PTCHD2	57540	broad.mit.edu	37	chr1	11579842	11579842	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggtctgcagccagcctccaAcacgggcagccgcggccatc	13	17	1	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr1:11579842A>T	uc001ash.3	+	9	2243	c.2105A>T	c.(2104-2106)AAC>ATC	p.N702I	PTCHD2_uc001asi.1_Missense_Mutation_p.N702I	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	702	Cytoplasmic (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCAGCCTCCAACACGGGCAGC	0.657													T	11579842	A	T	11579842	3	4	78	1	0	0	0	0	1	0	0	0	12733	43	2	5	2135	5	PTCHD2	1	11579842	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08		11579842	237670779	1	53680											
RPE65	6121	broad.mit.edu	37	chr1	68910260	68910260	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gattaatctttgtaataaagTtggtctctgtgcaagcgtag	10	5	2	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr1:68910260T>A	uc001dei.1	-	5	503	c.449A>T	c.(448-450)AAC>ATC	p.N150I		NM_000329	NP_000320	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein	150					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			ovary(1)	1						TGTAATAAAGTTGGTCTCTGT	0.398													A	68910260	T	A	68910260	3	1	78	1	0	0	0	0	1	0	0	0	13545	1725	60	5	1192	5	RPE65	1	68910260	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	57330418	68910260	180340361	2	53681											
AMY2B	280	broad.mit.edu	37	chr1	104122045	104122045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaaaatctacgtttctgacGatggcaaagctcatttttct	6	8	4	1	rs150795802		TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr1:104122045G>A	uc001duq.2	+	12	2075	c.1459G>A	c.(1459-1461)GAT>AAT	p.D487N	AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.D487N|AMY2B_uc001dus.1_Intron	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	487					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CGTTTCTGACGATGGCAAAGC	0.338													A	104122045	G	A	104122045	3	1	78	1	0	0	0	0	1	0	0	0	595	1058	37	1	1497	1	AMY2B	1	104122045	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	35211785	104122045	145128576	3	53682											
SF3B4	10262	broad.mit.edu	37	chr1	149898269	149898269	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaccaaaagctttaccTggtggaggaagcccagaccc	9	11	0	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr1:149898269T>C	uc001etj.1	-	3	756	c.705A>G	c.(703-705)CCA>CCG	p.P235P	SF3B4_uc001eti.1_5'Flank|SF3B4_uc001etk.1_Silent_p.P235P|SF3B4_uc009wll.1_Silent_p.P235P	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4	235						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AAGCTTTACCTGGTGGAGGAA	0.517													C	149898269	T	C	149898269	2	2	78	1	0	0	0	0	0	0	0	1	14153	1594	55	3		3	SF3B4	1	149898269	Silent	SNP	T	TCGA-BR-8366-01A-11D-2340-08	45776224	149898269	99352352	4	53683											
FCRL2	79368	broad.mit.edu	37	chr1	157738349	157738349	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggttttctttcccatactGgttcctgtggcctctctgta	9	11	2	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr1:157738349G>T	uc001fre.2	-	5	797	c.738C>A	c.(736-738)ACC>ACA	p.T246T	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Silent_p.T246T|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	246	Ig-like C2-type 3.|Extracellular (Potential).				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTCCCATACTGGTTCCTGTGG	0.522													T	157738349	G	T	157738349	2	4	78	1	0	0	0	0	0	0	0	1	5795	1335	47	5		5	FCRL2	1	157738349	Silent	SNP	G	TCGA-BR-8366-01A-11D-2340-08	7840080	157738349	91512272	5	53684											
CD5L	922	broad.mit.edu	37	chr1	157803288	157803288	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgtctcctcctactagtcTcaagtcaaagggatctgcag	9	11	4	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr1:157803288T>C	uc001frk.3	-	5	876	c.733A>G	c.(733-735)AGA>GGA	p.R245G		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	245	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTACTAGTCTCAAGTCAAAG	0.478													C	157803288	T	C	157803288	3	2	78	1	0	0	0	0	1	0	0	0	3027	1559	54	3	318	3	CD5L	1	157803288	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	64939	157803288	91447333	6	53685											
SLC9A11	284525	broad.mit.edu	37	chr1	173506170	173506170	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccattgttacgctgtttttcAaagctactctaaacatacat	4	10	2	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr1:173506170A>G	uc001giz.2	-	14	1989	c.1566T>C	c.(1564-1566)TTT>TTC	p.F522F	SLC9A11_uc009wwe.2_Silent_p.F80F|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	522					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						GCTGTTTTTCAAAGCTACTCT	0.333													G	173506170	A	G	173506170	2	3	78	1	0	0	0	0	0	0	0	1	14711	127	5	3		3	SLC9A11	1	173506170	Silent	SNP	A	TCGA-BR-8366-01A-11D-2340-08	15702882	173506170	75744451	7	53686											
STX6	10228	broad.mit.edu	37	chr1	180957480	180957480	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcctgctgttccacgatcAactggtgccagagaaatggg	11	11	1	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr1:180957480A>C	uc010pnq.1	-	6	728	c.491T>G	c.(490-492)TTG>TGG	p.L164W	STX6_uc001goo.2_Missense_Mutation_p.L164W|STX6_uc010pnr.1_Missense_Mutation_p.L63W	NM_005819	NP_005810	O43752	STX6_HUMAN	syntaxin 6	164	t-SNARE coiled-coil homology.|Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			ovary(1)	1						TTCCACGATCAACTGGTGCCA	0.527													C	180957480	A	C	180957480	3	2	78	1	0	0	0	0	1	0	0	0	15348	144	5	5	288	5	STX6	1	180957480	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	7451310	180957480	68293141	8	53687											
NFASC	23114	broad.mit.edu	37	chr1	204944442	204944442	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgaggaccaggtggccagAaggggcaccacggtgcagct	16	13	0	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr1:204944442A>G	uc001hbj.2	+	15	1930	c.1602A>G	c.(1600-1602)AGA>AGG	p.R534R	NFASC_uc001hbh.2_Silent_p.R534R|NFASC_uc010pqz.1_Silent_p.R528R|NFASC_uc010pra.1_Silent_p.R545R|NFASC_uc001hbi.2_Silent_p.R545R|NFASC_uc010prb.1_Silent_p.R545R|NFASC_uc010prc.1_Silent_p.R101R|NFASC_uc001hbk.1_Silent_p.R355R	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	534	Extracellular (Potential).|Ig-like C2-type 6.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGGTGGCCAGAAGGGGCACCA	0.622											OREG0014142	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	204944442	A	G	204944442	2	3	78	1	0	0	0	0	0	0	0	1	10359	243	9	3		3	NFASC	1	204944442	Silent	SNP	A	TCGA-BR-8366-01A-11D-2340-08	23986962	204944442	44306179	9	53688											
TGFB2	7042	broad.mit.edu	37	chr1	218520217	218520217	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcccccagaagactatccTgagcccgaggaagtcccccc	9	17	0	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr1:218520217T>G	uc001hlm.2	+	1	827	c.174T>G	c.(172-174)CCT>CCG	p.P58P	TGFB2_uc001hll.2_Silent_p.P58P|TGFB2_uc001hln.2_Silent_p.P58P|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	NM_003238	NP_003229	P61812	TGFB2_HUMAN	transforming growth factor, beta 2 isoform 2	58					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding				0				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AAGACTATCCTGAGCCCGAGG	0.627													G	218520217	T	G	218520217	2	3	78	1	0	0	0	0	0	0	0	1	15815	1567	55	5		5	TGFB2	1	218520217	Silent	SNP	T	TCGA-BR-8366-01A-11D-2340-08	13575775	218520217	30730404	10	53689											
AHCTF1	25909	broad.mit.edu	37	chr1	247006019	247006019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcttgttttgtttttgaCgtcctgattcgtttcgcttt	8	8	0	2	rs143813373	byFrequency	TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr1:247006019C>T	uc001ibu.1	-	34	6592	c.6585G>A	c.(6583-6585)ACG>ACA	p.T2195T	AHCTF1_uc001ibv.1_Silent_p.T2204T|AHCTF1_uc009xgs.1_Intron	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	2195	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTGTTTTTGACGTCCTGATTC	0.363													T	247006019	C	T	247006019	2	4	78	1	0	0	0	0	0	0	0	1	408	523	19	1		1	AHCTF1	1	247006019	Silent	SNP	C	TCGA-BR-8366-01A-11D-2340-08	28485802	247006019	2244602	11	53690											
VN1R5	317705	broad.mit.edu	37	chr1	247419884	247419884	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttaggattcttccttttcTcatgggtcctcaacatgttc	6	11	4	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr1:247419884T>C	uc010pyu.1	+	2	511	c.511T>C	c.(511-513)TCA>CCA	p.S171P		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	vomeronasal 1 receptor 5	171	Helical; Name=5; (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			CTTCCTTTTCTCATGGGTCCT	0.498													C	247419884	T	C	247419884	3	2	78	1	0	0	0	0	1	0	0	0	17178	1551	54	3	513	3	VN1R5	1	247419884	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	413865	247419884	1830737	12	53691											
NLRP3	114548	broad.mit.edu	37	chr1	247588601	247588601	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtgaaagccaaagctaAaaagctgcagatccagccca	9	10	0	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr1:247588601A>C	uc001icr.2	+	5	1994	c.1856A>C	c.(1855-1857)AAA>ACA	p.K619T	NLRP3_uc001ics.2_Missense_Mutation_p.K619T|NLRP3_uc001icu.2_Missense_Mutation_p.K619T|NLRP3_uc001icw.2_Missense_Mutation_p.K619T|NLRP3_uc001icv.2_Missense_Mutation_p.K619T|NLRP3_uc010pyw.1_Missense_Mutation_p.K617T|NLRP3_uc001ict.1_Missense_Mutation_p.K617T	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	619					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCCAAAGCTAAAAAGCTGCAG	0.483													C	247588601	A	C	247588601	3	2	78	1	0	0	0	0	1	0	0	0	10478	14	1	5	1866	5	NLRP3	1	247588601	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	168717	247588601	1662020	13	53692											
OR2G2	81470	broad.mit.edu	37	chr1	247752318	247752318	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctgtctcattcatcctggtCtcctctggctacattgccca	6	16	4	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr1:247752318C>T	uc010pyy.1	+	1	657	c.657C>T	c.(655-657)GTC>GTT	p.V219V		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	219	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCATCCTGGTCTCCTCTGGCT	0.478													T	247752318	C	T	247752318	2	4	78	1	0	0	0	0	0	0	0	1	10998	900	32	4		4	OR2G2	1	247752318	Silent	SNP	C	TCGA-BR-8366-01A-11D-2340-08	163717	247752318	1498303	14	53693											
TMEM178	130733	broad.mit.edu	37	chr2	39944200	39944200	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgccgccagtatctcgtatGatttgaaccggctcccaaag	9	12	1	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr2:39944200G>A	uc002rrt.2	+	4	728	c.703G>A	c.(703-705)GAT>AAT	p.D235N	TMEM178_uc010fam.1_Missense_Mutation_p.D189N	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	transmembrane protein 178 precursor	235	Extracellular (Potential).					integral to membrane					0		all_hematologic(82;0.248)				TATCTCGTATGATTTGAACCG	0.418													A	39944200	G	A	39944200	3	1	78	1	0	0	0	0	1	0	0	0	16092	1290	45	4	717	4	TMEM178	2	39944200	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08		39944200	203255173	15	53694											
SOCS5	9655	broad.mit.edu	37	chr2	46986595	46986595	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attagctcctggaatgactgAaataagtggggacagttctg	12	6	1	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr2:46986595A>G	uc002rvf.2	+	2	1090	c.926A>G	c.(925-927)GAA>GGA	p.E309G	SOCS5_uc010yoe.1_Missense_Mutation_p.E278G|SOCS5_uc002rvg.2_Missense_Mutation_p.E309G	NM_014011	NP_054730	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	309					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					ovary(1)|lung(1)|central_nervous_system(1)	3		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GGAATGACTGAAATAAGTGGG	0.453													G	46986595	A	G	46986595	3	3	78	1	0	0	0	0	1	0	0	0	14917	246	9	3	928	3	SOCS5	2	46986595	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	7042395	46986595	196212778	16	53695											
ERLEC1	27248	broad.mit.edu	37	chr2	54014465	54014465	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccttcctcaactcagcgatGacatccctttccgagtcaac	5	17	3	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr2:54014465G>A	uc002rxl.2	+	1	398	c.118G>A	c.(118-120)GAC>AAC	p.D40N	ASB3_uc002rxg.1_5'Flank|ASB3_uc002rxh.1_5'Flank|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_5'Flank|ERLEC1_uc002rxm.2_Missense_Mutation_p.D40N|ERLEC1_uc002rxn.2_Missense_Mutation_p.D40N	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	erlectin isoform 1	40					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			ovary(2)	2						ACTCAGCGATGACATCCCTTT	0.672													A	54014465	G	A	54014465	3	1	78	1	0	0	0	0	1	0	0	0	5231	1290	45	4	120	4	ERLEC1	2	54014465	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	7027870	54014465	189184908	17	53696											
EFEMP1	2202	broad.mit.edu	37	chr2	56144910	56144910	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttccgccggatgacaaagTtatttcggccagtctgcatt	11	10	1	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr2:56144910T>G	uc002rzh.2	-	4	737	c.407A>C	c.(406-408)AAC>ACC	p.N136T	EFEMP1_uc002rzi.2_Missense_Mutation_p.N136T|EFEMP1_uc002rzj.2_Missense_Mutation_p.N136T|EFEMP1_uc010ypc.1_Missense_Mutation_p.N78T	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	136					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GATGACAAAGTTATTTCGGCC	0.592													G	56144910	T	G	56144910	3	3	78	1	0	0	0	0	1	0	0	0	4941	1725	60	5	1106	5	EFEMP1	2	56144910	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	2130445	56144910	187054463	18	53697											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73303283	73303283	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgccctccacaggggcGgcactgaggggcttcacggg	18	13	1	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr2:73303283G>A	uc002siu.3	-	4	1837	c.1596C>T	c.(1594-1596)GCC>GCT	p.A532A	RAB11FIP5_uc002sis.3_5'UTR|RAB11FIP5_uc002sit.3_Silent_p.A454A	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	532					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding				0						CCACAGGGGCGGCACTGAGGG	0.607													A	73303283	G	A	73303283	2	1	78	1	0	0	0	0	0	0	0	1	12897	1103	39	1		1	RAB11FIP5	2	73303283	Silent	SNP	G	TCGA-BR-8366-01A-11D-2340-08	17158373	73303283	169896090	19	53698											
PROM2	150696	broad.mit.edu	37	chr2	95947106	95947106	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagctgggagaacggcgagcTctttgaggtaggcctgtctc	16	9	2	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr2:95947106T>C	uc002suh.1	+	12	1677	c.1544T>C	c.(1543-1545)CTC>CCC	p.L515P	PROM2_uc002sui.2_Missense_Mutation_p.L515P|PROM2_uc002suj.2_Missense_Mutation_p.L169P|PROM2_uc002suk.2_Missense_Mutation_p.L515P|PROM2_uc002sul.2_Missense_Mutation_p.L41P|PROM2_uc002sum.2_RNA	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	515	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1						AACGGCGAGCTCTTTGAGGTA	0.642													C	95947106	T	C	95947106	3	2	78	1	0	0	0	0	1	0	0	0	12556	1551	54	3	1590	3	PROM2	2	95947106	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	22643823	95947106	147252267	20	53699											
SLC9A2	6549	broad.mit.edu	37	chr2	103318883	103318883	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgattgtcgtgaagaaaaAataaggaaggtcacgtccag	12	5	1	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr2:103318883A>C	uc002tca.2	+	9	1909	c.1767A>C	c.(1765-1767)AAA>AAC	p.K589N		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	589	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						GTGAAGAAAAAATAAGGAAGG	0.303													C	103318883	A	C	103318883	3	2	78	1	0	0	0	0	1	0	0	0	14712	11	1	5	1801	5	SLC9A2	2	103318883	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	7371777	103318883	139880490	21	53700											
RANBP2	5903	broad.mit.edu	37	chr2	109383177	109383177	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaggggcttggggaacttaaAaattctcaaaaacgaggtca	11	6	2	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr2:109383177A>T	uc002tem.3	+	20	6308	c.6182A>T	c.(6181-6183)AAA>ATA	p.K2061I		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	2061	RanBD1 2.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						GGGAACTTAAAAATTCTCAAA	0.388													T	109383177	A	T	109383177	3	4	78	1	0	0	0	0	1	0	0	0	13028	14	1	5	6260	5	RANBP2	2	109383177	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	6064294	109383177	133816196	22	53701											
MERTK	10461	broad.mit.edu	37	chr2	112786254	112786254	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgggggcagtgaggaatGggaagatctgacttctgccc	16	7	2	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr2:112786254G>A	uc002thk.1	+	19	2935	c.2813G>A	c.(2812-2814)TGG>TAG	p.W938*	MERTK_uc002thl.1_Nonsense_Mutation_p.W762*	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	938	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						AGTGAGGAATGGGAAGATCTG	0.542													A	112786254	G	A	112786254	4	1	78	1	0	0	0	0	0	1	0	0	9479	1357	47	4	2887	4	MERTK	2	112786254	Nonsense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	3403077	112786254	130413119	23	53702											
TUBA3D	113457	broad.mit.edu	37	chr2	132240409	132240409	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagctgaggctgaagaaggCgaagaatactgaggggaggg	19	4	0	5			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr2:132240409C>T	uc002tsu.3	+	5	1448	c.1341C>T	c.(1339-1341)GGC>GGT	p.G447G		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	447					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTGAAGAAGGCGAAGAATACT	0.547													T	132240409	C	T	132240409	2	4	78	1	0	0	0	0	0	0	0	1	16744	755	27	1		1	TUBA3D	2	132240409	Silent	SNP	C	TCGA-BR-8366-01A-11D-2340-08	19454155	132240409	110958964	24	53703											
CSRNP3	80034	broad.mit.edu	37	chr2	166535277	166535277	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtaacacagcaggtagaattGaatttaatcctatccgtgtt	8	7	0	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr2:166535277G>T	uc002udf.2	+	7	1148	c.772G>T	c.(772-774)GAA>TAA	p.E258*	CSRNP3_uc002udg.2_Nonsense_Mutation_p.E258*	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	258					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						AGGTAGAATTGAATTTAATCC	0.443													T	166535277	G	T	166535277	4	4	78	1	0	0	0	0	0	1	0	0	3965	1291	45	5	786	5	CSRNP3	2	166535277	Nonsense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	34294868	166535277	76664096	25	53704											
TTN	7273	broad.mit.edu	37	chr2	179429558	179429558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagccaataattttggtgcCtccatcattcactggctcat	7	11	3	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr2:179429558C>T	uc010zfg.1	-	275	73821	c.73597G>A	c.(73597-73599)GGC>AGC	p.G24533S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G18228S|TTN_uc010zfi.1_Missense_Mutation_p.G18161S|TTN_uc010zfj.1_Missense_Mutation_p.G18036S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25460							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTTGGTGCCTCCATCATTC	0.393													T	179429558	C	T	179429558	3	4	78	1	0	0	0	0	1	0	0	0	16732	681	24	4	26826	4	TTN	2	179429558	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	12894281	179429558	63769815	26	53705											
FAM171B	165215	broad.mit.edu	37	chr2	187627498	187627498	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actagccaaaagagatagcaAgactaacatctggaagaagc	9	8	1	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr2:187627498A>G	uc002ups.2	+	8	2541	c.2429A>G	c.(2428-2430)AAG>AGG	p.K810R	FAM171B_uc002upr.1_Missense_Mutation_p.K777R|FAM171B_uc002upt.2_Missense_Mutation_p.K279R	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	810	Cytoplasmic (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						AGAGATAGCAAGACTAACATC	0.458													G	187627498	A	G	187627498	3	3	78	1	0	0	0	0	1	0	0	0	5491	72	3	3	2459	3	FAM171B	2	187627498	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	8197940	187627498	55571875	27	53706											
SLC6A11	6538	broad.mit.edu	37	chr3	10975851	10975851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgacccctgggatctgcgCggtaagggccccaccaggag	14	14	1	1	rs61730121	byFrequency	TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr3:10975851C>T	uc003bvz.2	+	12	1608	c.1574C>T	c.(1573-1575)GCG>GTG	p.A525V		NM_014229	NP_055044	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter	525	Helical; Name=11; (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GGGATCTGCGCGGTAAGGGCC	0.592													T	10975851	C	T	10975851	3	4	78	1	0	0	0	0	1	0	0	0	14674	782	27	1	1620	1	SLC6A11	3	10975851	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08		10975851	187046579	28	53707											
ANKRD28	23243	broad.mit.edu	37	chr3	15778572	15778572	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actgaaagctgcatgatgtaAtgcagtcctccctgctcgat	9	11	0	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr3:15778572A>T	uc003caj.1	-	5	573	c.430T>A	c.(430-432)TTA>ATA	p.L144I	ANKRD28_uc003cai.1_5'UTR|ANKRD28_uc011avz.1_5'UTR|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.L174I|ANKRD28_uc003cam.2_Missense_Mutation_p.L177I	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	144	ANK 4.					nucleoplasm	protein binding			breast(1)	1						GCATGATGTAATGCAGTCCTC	0.423													T	15778572	A	T	15778572	3	4	78	1	0	0	0	0	1	0	0	0	656	98	4	5	2827	5	ANKRD28	3	15778572	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	4802721	15778572	182243858	29	53708											
ZNF167	55888	broad.mit.edu	37	chr3	44611431	44611431	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggtgagaacatgatgAagggttcagagttgactcca	13	7	1	5			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr3:44611431A>G	uc010hin.2	+	6	1217	c.829A>G	c.(829-831)AAG>GAG	p.K277E	ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Missense_Mutation_p.K126E|ZNF167_uc003cnj.2_Missense_Mutation_p.K277E|ZNF167_uc003cnk.2_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	277	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		GAACATGATGAAGGGTTCAGA	0.428													G	44611431	A	G	44611431	3	3	78	1	0	0	0	0	1	0	0	0	17738	247	9	3	847	3	ZNF167	3	44611431	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	28832859	44611431	153410999	30	53709											
CDCP1	64866	broad.mit.edu	37	chr3	45153868	45153868	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagatgaaagttctgttgAgggtaggcaacaacgatgtc	12	8	1	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr3:45153868A>C	uc003com.2	-	3	497	c.362T>G	c.(361-363)CTC>CGC	p.L121R	CDCP1_uc003con.2_Missense_Mutation_p.L121R	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	121	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AGTTCTGTTGAGGGTAGGCAA	0.502													C	45153868	A	C	45153868	3	2	78	1	0	0	0	0	1	0	0	0	3093	304	11	5	2184	5	CDCP1	3	45153868	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	542437	45153868	152868562	31	53710											
SCAP	22937	broad.mit.edu	37	chr3	47456465	47456465	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acactggagaggcaggggaaCtgccccgccctggggtccct	15	14	0	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr3:47456465C>A	uc003crh.1	-	20	3413	c.3158G>T	c.(3157-3159)AGT>ATT	p.S1053I	SCAP_uc011baz.1_Missense_Mutation_p.S797I|SCAP_uc003crg.2_Missense_Mutation_p.S660I|uc003cri.2_RNA	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	1053	Interaction with SREBF2 (By similarity).|Cytoplasmic (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GGCAGGGGAACTGCCCCGCCC	0.592													A	47456465	C	A	47456465	3	1	78	1	0	0	0	0	1	0	0	0	13877	565	20	5	697	5	SCAP	3	47456465	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	2302597	47456465	150565965	32	53711											
RHOA	387	broad.mit.edu	37	chr3	49413010	49413010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaatcaccagtttcttccGgatggcagccattgctgaaa	8	11	2	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr3:49413010G>A	uc003cwu.2	-	2	289	c.13C>T	c.(13-15)CGG>TGG	p.R5W	RHOA_uc010hku.2_Intron	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	5					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	AGTTTCTTCCGGATGGCAGCC	0.473													A	49413010	G	A	49413010	3	1	78	1	0	0	0	0	1	0	0	0	13331	1115	39	1	584	1	RHOA	3	49413010	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	1956545	49413010	148609420	33	53712											
CACNA2D3	55799	broad.mit.edu	37	chr3	55038842	55038842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagccaacaaggaaagcagcGatggcgcccatggcctcctg	13	13	0	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr3:55038842G>A	uc003dhf.2	+	32	2791	c.2743G>A	c.(2743-2745)GAT>AAT	p.D915N	CACNA2D3_uc003dhg.1_Missense_Mutation_p.D821N|CACNA2D3_uc003dhh.1_RNA	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	915	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GGAAAGCAGCGATGGCGCCCA	0.458													A	55038842	G	A	55038842	3	1	78	1	0	0	0	0	1	0	0	0	2550	1058	37	1	2869	1	CACNA2D3	3	55038842	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	5625832	55038842	142983588	34	53713											
BBX	56987	broad.mit.edu	37	chr3	107491699	107491699	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaattttgaggcattgcaAatagatgacataatggctat	9	4	0	4			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr3:107491699A>C	uc010hpr.2	+	11	1458	c.1131A>C	c.(1129-1131)CAA>CAC	p.Q377H	BBX_uc003dwk.3_Missense_Mutation_p.Q377H|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.Q398H|BBX_uc003dwm.3_Missense_Mutation_p.Q377H|BBX_uc003dwo.3_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGGCATTGCAAATAGATGACA	0.313													C	107491699	A	C	107491699	3	2	78	1	0	0	0	0	1	0	0	0	1343	11	1	5	1161	5	BBX	3	107491699	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	52452857	107491699	90530731	35	53714											
GHSR	2693	broad.mit.edu	37	chr3	172162986	172162986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agattctgtccaggcccgagAactttcatctttcagagtgg	10	10	4	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr3:172162986A>G	uc003fib.1	-	2	1066	c.1066T>C	c.(1066-1068)TCT>CCT	p.S356P		NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	356	Cytoplasmic (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			lung(3)|ovary(1)|central_nervous_system(1)	5	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CAGGCCCGAGAACTTTCATCT	0.468													G	172162986	A	G	172162986	3	3	78	1	0	0	0	0	1	0	0	0	6375	246	9	3	38	3	GHSR	3	172162986	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	64671287	172162986	25859444	36	53715											
PIK3CA	5290	broad.mit.edu	37	chr3	178917478	178917478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatgtaattttattaaagGttttgctatcggcatgccag	8	5	0	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr3:178917478G>A	uc003fjk.2	+	3	510	c.353G>A	c.(352-354)GGT>GAT	p.G118D		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	118					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G118D(6)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178917478	G	A	178917478	3	1	78	1	0	0	0	0	1	0	0	0	11913	1275	44	4	359	4	PIK3CA	3	178917478	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	6754492	178917478	19104952	37	53716											
PIK3CA	5290	broad.mit.edu	37	chr3	178917669	178917669	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaattgccaaagcacataTataataaattagataaaggt	6	5	0	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr3:178917669T>C	uc003fjk.2	+	3	701	c.544T>C	c.(544-546)TAT>CAT	p.Y182H		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	182	PI3K-RBD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AAAGCACATATATAATAAATT	0.313		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			C	178917669	T	C	178917669	3	2	78	1	0	0	0	0	1	0	0	0	11913	1406	49	3	550	3	PIK3CA	3	178917669	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	191	178917669	19104761	38	53717											
D4S234E	27065	broad.mit.edu	37	chr4	4389469	4389469	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatgtcaatcagctgcagtTcccgcccccggataaggtaa	10	13	2	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr4:4389469T>C	uc011bvz.1	+	5	1394	c.113T>C	c.(112-114)TTC>TCC	p.F38S	D4S234E_uc011bwa.1_Missense_Mutation_p.F38S|D4S234E_uc003ghz.2_Missense_Mutation_p.F38S|D4S234E_uc003gia.2_Missense_Mutation_p.F38S|D4S234E_uc003gib.2_Missense_Mutation_p.F38S	NM_014392	NP_055207	P42857	NSG1_HUMAN	brain neuron cytoplasmic protein 1	38	Cytoplasmic (Potential).				dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		CAGCTGCAGTTCCCGCCCCCG	0.637													C	4389469	T	C	4389469	3	2	78	1	0	0	0	0	1	0	0	0	4214	1783	62	3	115	3	D4S234E	4	4389469	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08		4389469	186764807	39	53718											
SLC4A4	8671	broad.mit.edu	37	chr4	72316960	72316960	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaatggggatacgccccatGatggaggtcacggaggagga	17	7	1	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr4:72316960G>A	uc003hfy.2	+	11	1381	c.1264G>A	c.(1264-1266)GAT>AAT	p.D422N	SLC4A4_uc010iic.2_Missense_Mutation_p.D422N|SLC4A4_uc010iib.2_Missense_Mutation_p.D422N|SLC4A4_uc003hfz.2_Missense_Mutation_p.D422N|SLC4A4_uc003hgc.3_Missense_Mutation_p.D378N|SLC4A4_uc010iid.2_5'UTR|SLC4A4_uc003hga.2_Missense_Mutation_p.D300N|SLC4A4_uc003hgb.3_Missense_Mutation_p.D378N	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	422	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TACGCCCCATGATGGAGGTCA	0.443													A	72316960	G	A	72316960	3	1	78	1	0	0	0	0	1	0	0	0	14656	1290	45	4	1423	4	SLC4A4	4	72316960	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	67927491	72316960	118837316	40	53719											
CENPE	1062	broad.mit.edu	37	chr4	104030045	104030045	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcggctatcaaaaaaacaAgattttggtgattcctttgg	9	6	1	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr4:104030045A>C	uc003hxb.1	-	48	8016	c.7926T>G	c.(7924-7926)TCT>TCG	p.S2642S	CENPE_uc003hxc.1_Silent_p.S2521S	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	2642	Globular autoinhibitory domain (By similarity).				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CAAAAAAACAAGATTTTGGTG	0.373													C	104030045	A	C	104030045	2	2	78	1	0	0	0	0	0	0	0	1	3230	59	3	5		5	CENPE	4	104030045	Silent	SNP	A	TCGA-BR-8366-01A-11D-2340-08	31713085	104030045	87124231	41	53720											
NDST4	64579	broad.mit.edu	37	chr4	115998026	115998026	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgacctatatggtagaattTtgatgtcagtgcattctgct	9	6	2	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr4:115998026T>G	uc003ibu.2	-	2	846	c.167A>C	c.(166-168)AAA>ACA	p.K56T	NDST4_uc010imw.2_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	56	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGGTAGAATTTTGATGTCAGT	0.413													G	115998026	T	G	115998026	3	3	78	1	0	0	0	0	1	0	0	0	10258	1841	64	5	2503	5	NDST4	4	115998026	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	11967981	115998026	75156250	42	53721											
HSPA4L	22824	broad.mit.edu	37	chr4	128726362	128726362	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgctgatgaagctgttgcaAgaggatgtgcgttacaggta	14	5	0	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr4:128726362A>G	uc003ifm.2	+	9	1373	c.1120A>G	c.(1120-1122)AGA>GGA	p.R374G	HSPA4L_uc010iny.1_Missense_Mutation_p.R333G|HSPA4L_uc011cgr.1_Missense_Mutation_p.R341G	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	374					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						AGCTGTTGCAAGAGGATGTGC	0.343													G	128726362	A	G	128726362	3	3	78	1	0	0	0	0	1	0	0	0	7413	64	3	3	1154	3	HSPA4L	4	128726362	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	12728336	128726362	62427914	43	53722											
PCDH10	57575	broad.mit.edu	37	chr4	134072953	134072953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgctggcagcccccaggCgctggctggtaacgccactg	15	15	0	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr4:134072953C>T	uc003iha.2	+	1	2484	c.1658C>T	c.(1657-1659)GCG>GTG	p.A553V	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.A553V	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	553	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		AGCCCCCAGGCGCTGGCTGGT	0.602													T	134072953	C	T	134072953	3	4	78	1	0	0	0	0	1	0	0	0	11507	768	27	1	1660	1	PCDH10	4	134072953	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	5346591	134072953	57081323	44	53723											
TRIM2	23321	broad.mit.edu	37	chr4	154216607	154216607	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgagcgagaagctgaacgAgctggccgaccaggacttcc	14	11	0	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr4:154216607A>G	uc003ing.2	+	6	1049	c.848A>G	c.(847-849)GAG>GGG	p.E283G	TRIM2_uc003inh.2_Missense_Mutation_p.E310G	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	283						cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		AAGCTGAACGAGCTGGCCGAC	0.587													G	154216607	A	G	154216607	3	3	78	1	0	0	0	0	1	0	0	0	16491	304	11	3	951	3	TRIM2	4	154216607	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	20143654	154216607	36937669	45	53724											
GALNT7	51809	broad.mit.edu	37	chr4	174169235	174169235	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatggcctcatgttgaaggAgtagaagtggacttagagtc	13	7	1	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr4:174169235A>G	uc003isz.3	+	2	314	c.231A>G	c.(229-231)GGA>GGG	p.G77G		NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	77	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)	1		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		ATGTTGAAGGAGTAGAAGTGG	0.483													G	174169235	A	G	174169235	2	3	78	1	0	0	0	0	0	0	0	1	6218	291	11	3		3	GALNT7	4	174169235	Silent	SNP	A	TCGA-BR-8366-01A-11D-2340-08	19952628	174169235	16985041	46	53725											
WWC2	80014	broad.mit.edu	37	chr4	184233538	184233538	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagcaaggtctgaatgcagaGaagttgatgaggcaagtctc	13	6	2	4			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr4:184233538G>C	uc010irx.2	+	22	3611	c.3429G>C	c.(3427-3429)GAG>GAC	p.E1143D	WWC2_uc003ivk.3_Missense_Mutation_p.E938D|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Missense_Mutation_p.E825D|WWC2_uc003ivn.3_Missense_Mutation_p.E658D|WWC2_uc010irz.2_Missense_Mutation_p.E484D|WWC2_uc003ivo.3_Missense_Mutation_p.E271D	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	1143	Potential.									ovary(2)|lung(1)	3		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TGAATGCAGAGAAGTTGATGA	0.498													C	184233538	G	C	184233538	3	2	78	1	0	0	0	0	1	0	0	0	17409	933	33	5	3515	5	WWC2	4	184233538	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	10064303	184233538	6920738	47	53726											
RAI14	26064	broad.mit.edu	37	chr5	34811167	34811167	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaaatggtcacagtgagatCtgtcactttctcctggatca	8	10	5	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr5:34811167C>A	uc003jir.2	+	8	697	c.501C>A	c.(499-501)ATC>ATA	p.I167I	RAI14_uc010iur.2_Silent_p.I167I|RAI14_uc011coj.1_Silent_p.I167I|RAI14_uc010ius.1_Silent_p.I96I|RAI14_uc003jis.2_Silent_p.I170I|RAI14_uc003jit.2_Silent_p.I167I|RAI14_uc011cok.1_Silent_p.I159I	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	167	ANK 5.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					ACAGTGAGATCTGTCACTTTC	0.428													A	34811167	C	A	34811167	2	1	78	1	0	0	0	0	0	0	0	1	13008	903	32	5		5	RAI14	5	34811167	Silent	SNP	C	TCGA-BR-8366-01A-11D-2340-08		34811167	146104093	48	53727											
PCDHB5	26167	broad.mit.edu	37	chr5	140516596	140516596	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaggccctgcaggcgttcgAgttccgcgtgggagccacag	16	13	0	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr5:140516596A>G	uc003liq.2	+	1	1797	c.1580A>G	c.(1579-1581)GAG>GGG	p.E527G		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	527	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGCGTTCGAGTTCCGCGTG	0.687													G	140516596	A	G	140516596	3	3	78	1	0	0	0	0	1	0	0	0	11545	304	11	3	1582	3	PCDHB5	5	140516596	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	105705429	140516596	40398664	49	53728											
PCDHB15	56121	broad.mit.edu	37	chr5	140627353	140627353	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggcccctttccagggcatcTggtggacgtgagcggcaccg	16	13	1	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr5:140627353T>A	uc003lje.2	+	1	2207	c.2207T>A	c.(2206-2208)CTG>CAG	p.L736Q		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	736	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGGGCATCTGGTGGACGTG	0.612													A	140627353	T	A	140627353	3	1	78	1	0	0	0	0	1	0	0	0	11540	1580	55	5	2209	5	PCDHB15	5	140627353	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	110757	140627353	40287907	50	53729											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719560	140719560	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtcacggttctggatgtgaAtgacaatgccccagaatttt	10	9	2	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr5:140719560A>C	uc003ljk.1	+	1	1207	c.1022A>C	c.(1021-1023)AAT>ACT	p.N341T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.N341T	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	341	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGATGTGAATGACAATGCC	0.423													C	140719560	A	C	140719560	3	2	78	1	0	0	0	0	1	0	0	0	11554	101	4	5	1024	5	PCDHGA2	5	140719560	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	92207	140719560	40195700	51	53730											
LSM11	134353	broad.mit.edu	37	chr5	157181043	157181043	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggatgagacctaccgaaAacctgtcctaggcaaagcat	10	10	0	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr5:157181043A>C	uc003lxe.1	+	3	624	c.620A>C	c.(619-621)AAA>ACA	p.K207T	LSM11_uc003lxf.1_5'Flank	NM_173491	NP_775762	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	207					histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCTACCGAAAACCTGTCCTA	0.433													C	157181043	A	C	157181043	3	2	78	1	0	0	0	0	1	0	0	0	9052	14	1	5	630	5	LSM11	5	157181043	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	16461483	157181043	23734217	52	53731											
TUBB2B	347733	broad.mit.edu	37	chr6	3226489	3226489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atccacgaggatggcccgagGaacatatttgttacctgcaa	10	10	0	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr6:3226489G>A	uc003mvg.2	-	3	372	c.181C>T	c.(181-183)CCT>TCT	p.P61S	uc003mvi.1_5'Flank|TUBB2B_uc010jnj.2_Intron|TUBB2B_uc010jnk.2_5'UTR|TUBB2B_uc003mvh.2_Silent_p.F35F	NM_178012	NP_821080	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B	61					'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			large_intestine(1)	1	Ovarian(93;0.0386)	all_hematologic(90;0.108)				ATGGCCCGAGGAACATATTTG	0.532													A	3226489	G	A	3226489	3	1	78	1	0	0	0	0	1	0	0	0	16752	1174	41	4	1164	4	TUBB2B	6	3226489	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08		3226489	167888578	53	53732											
RANBP9	10048	broad.mit.edu	37	chr6	13644914	13644914	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttgcccaaaattggcatcGaccacttctcctggtgtttg	9	11	1	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr6:13644914G>A	uc003nbb.2	-	6	1034	c.975C>T	c.(973-975)GTC>GTT	p.V325V	RANBP9_uc003nba.2_5'UTR	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	RAN binding protein 9	325	B30.2/SPRY.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			lung(1)|skin(1)	2	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			AATTGGCATCGACCACTTCTC	0.388													A	13644914	G	A	13644914	2	1	78	1	0	0	0	0	0	0	0	1	13032	1045	37	1		1	RANBP9	6	13644914	Silent	SNP	G	TCGA-BR-8366-01A-11D-2340-08	10418425	13644914	157470153	54	53733											
GABBR1	2550	broad.mit.edu	37	chr6	29574733	29574733	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgagagtgaggacatccaTgcccaccagcaggcccactg	13	14	0	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr6:29574733T>C	uc003nmt.3	-	18	2494	c.2158A>G	c.(2158-2160)ATG>GTG	p.M720V	GABBR1_uc003nmp.3_Missense_Mutation_p.M603V|GABBR1_uc003nms.3_Missense_Mutation_p.M603V|GABBR1_uc003nmu.3_Missense_Mutation_p.M658V|GABBR1_uc011dlr.1_Missense_Mutation_p.M543V	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	720	Helical; Name=4; (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	AGGACATCCATGCCCACCAGC	0.567													C	29574733	T	C	29574733	3	2	78	1	0	0	0	0	1	0	0	0	6155	1464	51	3	751	3	GABBR1	6	29574733	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	15929819	29574733	141540334	55	53734											
GSTA4	2941	broad.mit.edu	37	chr6	52852195	52852197	+	In_Frame_Del	DEL	TTC	TTC	-													tgttcttttgtttccagaaaTtcttcatcaaactaaatttt							TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr6:52852194_52852196ATTC>A	uc003pbf.3	-	2	248_250	c.98_100GAAT>T	c.(97-102)gaattt>gTtt	p.33_34EF>V	GSTA4_uc003pbd.3_Intron	NM_001512	NP_001503	O15217	GSTA4_HUMAN	Homo sapiens glutathione S-transferase alpha 4 (GSTA4), mRNA.	33	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	GTTTCCAGAAATTCTTCATCAAA	0.31													-	52852197	TTC	-	52852195	7	5	78	1	0	1	0	1	0	0	0	0	6833	1490	52	0	589	0	GSTA4	6	52852195	In_Frame_Del	DEL	TTC	TCGA-BR-8366-01A-11D-2340-08	23277462	52852195	118262872	56	53735											
HCRTR2	3062	broad.mit.edu	37	chr6	55145185	55145185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcctggtttaccttttcaCactggcttgtatatgccaat	7	10	1	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr6:55145185C>T	uc003pcl.2	+	6	1363	c.1048C>T	c.(1048-1050)CAC>TAC	p.H350Y	HCRTR2_uc010jzv.2_RNA	NM_001526	NP_001517	O43614	OX2R_HUMAN	orexin receptor 2	350	Helical; Name=7; (Potential).				feeding behavior	integral to plasma membrane	neuropeptide receptor activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TACCTTTTCACACTGGCTTGT	0.378													T	55145185	C	T	55145185	3	4	78	1	0	0	0	0	1	0	0	0	7002	478	17	4	1070	4	HCRTR2	6	55145185	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	2292990	55145185	115969882	57	53736											
C6orf204	387119	broad.mit.edu	37	chr6	118804953	118804953	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaattcttctctgcttttcTttgttttgttcagattcctt	4	9	5	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr6:118804953T>G	uc003pxz.1	-	7	2094	c.1506A>C	c.(1504-1506)AAA>AAC	p.K502N	C6orf204_uc003pya.1_Missense_Mutation_p.K505N	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	502	Potential.					centrosome				breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)		TCTGCTTTTCTTTGTTTTGTT	0.353													G	118804953	T	G	118804953	3	3	78	1	0	0	0	0	1	0	0	0	2353	1606	56	5	939	5	C6orf204	6	118804953	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	63659768	118804953	52310114	58	53737											
EYA4	2070	broad.mit.edu	37	chr6	133846387	133846387	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagaagaagaacaggcagcaAaaaaggtaacctgtctcaaa	9	7	1	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr6:133846387A>G	uc003qec.3	+	19	2292	c.1834A>G	c.(1834-1836)AAA>GAA	p.K612E	EYA4_uc011ecq.1_Intron|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Intron|EYA4_uc003qee.3_Missense_Mutation_p.K589E|EYA4_uc011ecs.1_Missense_Mutation_p.K618E|uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	612					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		ACAGGCAGCAAAAAAGGTAAC	0.398													G	133846387	A	G	133846387	3	3	78	1	0	0	0	0	1	0	0	0	5331	15	1	3	2009	3	EYA4	6	133846387	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	15041434	133846387	37268680	59	53738											
RSPH3	83861	broad.mit.edu	37	chr6	159420551	159420551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtaggtgctcggggccCgagaggtgcgatcagtcagc	18	9	2	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr6:159420551C>T	uc003qrx.2	-	1	648	c.458G>A	c.(457-459)CGG>CAG	p.R153Q	RSPH3_uc010kju.2_Missense_Mutation_p.R153Q|RSPH3_uc003qry.1_Missense_Mutation_p.R153Q	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog	153										ovary(1)|skin(1)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GCTCGGGGCCCGAGAGGTGCG	0.662													T	159420551	C	T	159420551	3	4	78	1	0	0	0	0	1	0	0	0	13705	652	23	1	1256	1	RSPH3	6	159420551	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	25574164	159420551	11694516	60	53739											
TTLL2	83887	broad.mit.edu	37	chr6	167754950	167754950	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacacgcctcacaagacacTcatgccctacgcgtccctct	6	19	3	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr6:167754950T>C	uc003qvs.1	+	3	1650	c.1562T>C	c.(1561-1563)CTC>CCC	p.L521P	TTLL2_uc011egr.1_RNA	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	521					protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CACAAGACACTCATGCCCTAC	0.572													C	167754950	T	C	167754950	3	2	78	1	0	0	0	0	1	0	0	0	16724	1551	54	3	1572	3	TTLL2	6	167754950	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	8334399	167754950	3360117	61	53740											
OSBPL3	26031	broad.mit.edu	37	chr7	24905028	24905028	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcgtgtctcaccaccacaAgaaaatgatacattgcttcc	5	13	1	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr7:24905028A>G	uc003sxf.2	-	7	1011	c.606T>C	c.(604-606)TCT>TCC	p.S202S	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Silent_p.S202S|OSBPL3_uc003sxh.2_Silent_p.S202S|OSBPL3_uc003sxi.2_Silent_p.S202S	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	202					lipid transport		lipid binding|protein binding			skin(1)	1						CACCACCACAAGAAAATGATA	0.403													G	24905028	A	G	24905028	2	3	78	1	0	0	0	0	0	0	0	1	11279	59	3	3		3	OSBPL3	7	24905028	Silent	SNP	A	TCGA-BR-8366-01A-11D-2340-08		24905028	134233635	62	53741											
DPY19L1	23333	broad.mit.edu	37	chr7	35057571	35057571	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcattttcaaagaggtgtgTtatatggctcctggaaaaac	10	6	2	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr7:35057571T>G	uc003tem.3	-	3	260	c.115A>C	c.(115-117)ACA>CCA	p.T39P		NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN	dpy-19-like 1	39						integral to membrane					0						AAGAGGTGTGTTATATGGCTC	0.323													G	35057571	T	G	35057571	3	3	78	1	0	0	0	0	1	0	0	0	4740	1725	60	5	1992	5	DPY19L1	7	35057571	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	10152543	35057571	124081092	63	53742											
GLI3	2737	broad.mit.edu	37	chr7	42005274	42005274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtggctgtctggcagccCgggcgcgtcaaagtcaccgg	16	13	3	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr7:42005274C>T	uc011kbh.1	-	15	3488	c.3397G>A	c.(3397-3399)GGG>AGG	p.G1133R	GLI3_uc011kbg.1_Missense_Mutation_p.G1074R	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1133					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						TCTGGCAGCCCGGGCGCGTCA	0.642									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42005274	C	T	42005274	3	4	78	1	0	0	0	0	1	0	0	0	6439	652	23	1	1349	1	GLI3	7	42005274	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	6947703	42005274	117133389	64	53743											
ZSCAN21	7589	broad.mit.edu	37	chr7	99655484	99655484	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagtctggtgaggagcaggAgttcgctcaagatccaagaa	14	7	2	4			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr7:99655484A>C	uc003uso.2	+	3	707	c.563A>C	c.(562-564)GAG>GCG	p.E188A	ZSCAN21_uc003usn.1_Missense_Mutation_p.E187A	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	zinc finger protein 38	188					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GAGGAGCAGGAGTTCGCTCAA	0.542													C	99655484	A	C	99655484	3	2	78	1	0	0	0	0	1	0	0	0	18230	304	11	5	569	5	ZSCAN21	7	99655484	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	57650210	99655484	59483179	65	53744											
STAG3	10734	broad.mit.edu	37	chr7	99808704	99808704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagctgaacagcatcccGcccacgcccaccctcacctc	6	22	1	1	rs147288707		TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr7:99808704G>A	uc003utx.1	+	30	3464	c.3309G>A	c.(3307-3309)CCG>CCA	p.P1103P	STAG3_uc011kjk.1_Silent_p.P1045P|GATS_uc003uty.3_Intron|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Silent_p.P327P	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1103					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAGCATCCCGCCCACGCCCA	0.572													A	99808704	G	A	99808704	2	1	78	1	0	0	0	0	0	0	0	1	15243	1074	38	1		1	STAG3	7	99808704	Silent	SNP	G	TCGA-BR-8366-01A-11D-2340-08	153220	99808704	59329959	66	53745											
MET	4233	broad.mit.edu	37	chr7	116397506	116397506	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagattgaaatgcacagtTggtcctgccatgaataagca	9	9	0	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr7:116397506T>G	uc003vij.2	+	7	2065	c.1878T>G	c.(1876-1878)GTT>GTG	p.V626V	MET_uc010lkh.2_Silent_p.V626V|MET_uc011knd.1_Silent_p.V626V|MET_uc011kne.1_Silent_p.V598V|MET_uc011knf.1_Silent_p.V626V|MET_uc011kng.1_Silent_p.V626V|MET_uc011knh.1_Silent_p.V626V|MET_uc011kni.1_Silent_p.V626V|MET_uc011knj.1_Silent_p.V196V	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	626	Extracellular (Potential).|IPT/TIG 1.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AATGCACAGTTGGTCCTGCCA	0.353			Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				G	116397506	T	G	116397506	2	3	78	1	0	0	0	0	0	0	0	1	9485	1799	63	5		5	MET	7	116397506	Silent	SNP	T	TCGA-BR-8366-01A-11D-2340-08	16588802	116397506	42741157	67	53746											
AKR1B1	231	broad.mit.edu	37	chr7	134136460	134136460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgatgtggcggtacccgaCgtcaatggccaccttcacgg	13	13	2	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr7:134136460C>T	uc003vrp.1	-	2	186	c.112G>A	c.(112-114)GTC>ATC	p.V38I	AKR1B1_uc003vrq.1_RNA	NM_001628	NP_001619	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1	38					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			ovary(3)	3					NADH(DB00157)|Sulindac(DB00605)	CGGTACCCGACGTCAATGGCC	0.587													T	134136460	C	T	134136460	3	4	78	1	0	0	0	0	1	0	0	0	466	536	19	1	874	1	AKR1B1	7	134136460	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	17738954	134136460	25002203	68	53747											
BRAF	673	broad.mit.edu	37	chr7	140453133	140453133	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggacccactccatcgagatTtcactgtagctagaccaaaa	8	12	1	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr7:140453133T>G	uc003vwc.3	-	15	1863	c.1802A>C	c.(1801-1803)AAA>ACA	p.K601T		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	601	Protein kinase.		K -> Q (in CFC syndrome).|K -> E (in colorectal cancer).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.K601E(47)|p.V600_K601>E(8)|p.K601N(7)|p.K601del(4)|p.K601Q(3)|p.T599_R603>I(2)|p.V600_W604del(1)|p.K601K(1)|p.K601L(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.K601I(1)	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	CCATCGAGATTTCACTGTAGC	0.373		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				G	140453133	T	G	140453133	3	3	78	1	0	0	0	0	1	0	0	0	1496	1841	64	5	514	5	BRAF	7	140453133	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	6316673	140453133	18685530	69	53748											
CLN8	2055	broad.mit.edu	37	chr8	1728422	1728422	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctctccatgcaggcgggcTggtccgagtctctgttttgg	13	11	2	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr8:1728422T>G	uc003wpo.3	+	3	855	c.550T>G	c.(550-552)TGG>GGG	p.W184G		NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8	184	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		GCAGGCGGGCTGGTCCGAGTC	0.458													G	1728422	T	G	1728422	3	3	78	1	0	0	0	0	1	0	0	0	3546	1580	55	5	556	5	CLN8	8	1728422	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08		1728422	144635600	70	53749											
WRN	7486	broad.mit.edu	37	chr8	30938688	30938688	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatggagtagaagacaacaAattgaaagagaatatggaaa	11	2	0	5			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr8:30938688A>C	uc003xio.3	+	9	1933	c.1145A>C	c.(1144-1146)AAA>ACA	p.K382T	WRN_uc011lbd.1_Missense_Mutation_p.K85T|WRN_uc011lbe.1_5'Flank	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	382					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GAAGACAACAAATTGAAAGAG	0.348			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				C	30938688	A	C	30938688	3	2	78	1	0	0	0	0	1	0	0	0	17399	14	1	5	1175	5	WRN	8	30938688	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	29210266	30938688	115425334	71	53750											
RP1	6101	broad.mit.edu	37	chr8	55542502	55542502	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggttagaggaagaaggtaaTttaaagaaatttcaaccaga	11	3	1	4			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr8:55542502T>G	uc003xsd.1	+	4	6208	c.6060T>G	c.(6058-6060)AAT>AAG	p.N2020K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	2020					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGAAGGTAATTTAAAGAAAT	0.308													G	55542502	T	G	55542502	3	3	78	1	0	0	0	0	1	0	0	0	13532	1490	52	5	6070	5	RP1	8	55542502	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	24603814	55542502	90821520	72	53751											
ZFPM2	23414	broad.mit.edu	37	chr8	106813505	106813505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagaaagtgacatggaaCactctccaagtgcaactgaa	9	10	1	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr8:106813505C>T	uc003ymd.2	+	8	1218	c.1195C>T	c.(1195-1197)CAC>TAC	p.H399Y	ZFPM2_uc011lhs.1_Missense_Mutation_p.H130Y|uc003yme.1_5'Flank	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	399					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGACATGGAACACTCTCCAAG	0.507													T	106813505	C	T	106813505	3	4	78	1	0	0	0	0	1	0	0	0	17655	478	17	4	1225	4	ZFPM2	8	106813505	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	51271003	106813505	39550517	73	53752											
CSMD3	114788	broad.mit.edu	37	chr8	113418874	113418874	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaaaaagaaccgatgaaccGactgcaaattcattgccaat	6	10	2	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr8:113418874G>A	uc003ynu.2	-	35	5847	c.5688C>T	c.(5686-5688)GTC>GTT	p.V1896V	CSMD3_uc003yns.2_Silent_p.V1098V|CSMD3_uc003ynt.2_Silent_p.V1856V|CSMD3_uc011lhx.1_Silent_p.V1792V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1896	Sushi 10.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCGATGAACCGACTGCAAATT	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113418874	G	A	113418874	2	1	78	1	0	0	0	0	0	0	0	1	3946	1045	37	1		1	CSMD3	8	113418874	Silent	SNP	G	TCGA-BR-8366-01A-11D-2340-08	6605369	113418874	32945148	74	53753											
COL14A1	7373	broad.mit.edu	37	chr8	121170389	121170389	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctccacccacaaggttaAgatataatgtaatatctcat	6	9	1	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr8:121170389A>C	uc003yox.2	+	3	374	c.109A>C	c.(109-111)AGA>CGA	p.R37R		NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	37	Fibronectin type-III 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CACAAGGTTAAGATATAATGT	0.343													C	121170389	A	C	121170389	2	2	78	1	0	0	0	0	0	0	0	1	3671	64	3	5		5	COL14A1	8	121170389	Silent	SNP	A	TCGA-BR-8366-01A-11D-2340-08	7751515	121170389	25193633	75	53754											
NAPRT1	93100	broad.mit.edu	37	chr8	144658639	144658639	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaagaccttgcggatctcctGagcctgctgtagcaggtcac	12	12	2	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr8:144658639G>A	uc003yym.3	-	7	1010	c.985C>T	c.(985-987)CAG>TAG	p.Q329*	NAPRT1_uc003yyn.3_Nonsense_Mutation_p.Q329*|NAPRT1_uc011lkh.1_Nonsense_Mutation_p.Q329*|NAPRT1_uc003yyo.3_Nonsense_Mutation_p.Q329*	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain	329					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CGGATCTCCTGAGCCTGCTGT	0.657													A	144658639	G	A	144658639	4	1	78	1	0	0	0	0	0	1	0	0	10165	1299	45	4	659	4	NAPRT1	8	144658639	Nonsense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	23488250	144658639	1705383	76	53755											
MLLT3	4300	broad.mit.edu	37	chr9	20414419	20414419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtatgaatactcctattaGggtcctgcaaaaaggggaga	12	6	0	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr9:20414419G>A	uc003zoe.2	-	5	684	c.425C>T	c.(424-426)CCT>CTT	p.P142L	MLLT3_uc011lne.1_Missense_Mutation_p.P110L|MLLT3_uc011lnf.1_Missense_Mutation_p.P139L|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.P110L	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		ACTCCTATTAGGGTCCTGCAA	0.209			T	MLL	ALL								A	20414419	G	A	20414419	3	1	78	1	0	0	0	0	1	0	0	0	9628	1000	35	4	1309	4	MLLT3	9	20414419	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08		20414419	120799012	77	53756											
PIGO	84720	broad.mit.edu	37	chr9	35091599	35091599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcaccagcactgtcacaGgcttccagagcagcagcgcg	10	16	2	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr9:35091599G>A	uc003zwd.2	-	7	2681	c.2285C>T	c.(2284-2286)CCT>CTT	p.P762L	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Missense_Mutation_p.P325L	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	762	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CACTGTCACAGGCTTCCAGAG	0.647													A	35091599	G	A	35091599	3	1	78	1	0	0	0	0	1	0	0	0	11894	1000	35	4	1004	4	PIGO	9	35091599	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	14677180	35091599	106121832	78	53757											
INVS	27130	broad.mit.edu	37	chr9	103015323	103015323	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgtccaggattatgcaggaAgaacccctttgcagtgtgca	11	9	0	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr9:103015323A>T	uc004bap.1	+	10	1581	c.1369A>T	c.(1369-1371)AGA>TGA	p.R457*	INVS_uc010mta.1_Nonsense_Mutation_p.R361*|INVS_uc011lve.1_Nonsense_Mutation_p.R361*|INVS_uc004bao.1_Nonsense_Mutation_p.R457*|INVS_uc004baq.1_Nonsense_Mutation_p.R361*|INVS_uc004bar.1_Nonsense_Mutation_p.R361*|INVS_uc010mtb.1_Nonsense_Mutation_p.R131*	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	457	ANK 14.				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				TTATGCAGGAAGAACCCCTTT	0.418													T	103015323	A	T	103015323	4	4	78	1	0	0	0	0	0	1	0	0	7787	64	3	5	1403	5	INVS	9	103015323	Nonsense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	67923724	103015323	38198108	79	53758											
C9orf84	158401	broad.mit.edu	37	chr9	114454546	114454546	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaaaaacttgagatttcTtttagttccataatggaaga	8	4	1	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr9:114454546T>G	uc004bfr.2	-	25	3654	c.3519A>C	c.(3517-3519)AAA>AAC	p.K1173N	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.K1134N|C9orf84_uc010mug.2_Missense_Mutation_p.K1084N	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	1173										ovary(2)	2						TTGAGATTTCTTTTAGTTCCA	0.358													G	114454546	T	G	114454546	3	3	78	1	0	0	0	0	1	0	0	0	2500	1606	56	5	823	5	C9orf84	9	114454546	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	11439223	114454546	26758885	80	53759											
SLC46A2	57864	broad.mit.edu	37	chr9	115651953	115651953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggagaagaccaggacacCcaggaagctggtgatgaaga	16	8	0	5			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr9:115651953C>T	uc004bgk.2	-	1	1241	c.1009G>A	c.(1009-1011)GGT>AGT	p.G337S		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	337	Helical; Name=8; (Potential).					integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)	1						ACCAGGACACCCAGGAAGCTG	0.547													T	115651953	C	T	115651953	3	4	78	1	0	0	0	0	1	0	0	0	14645	623	22	4	434	4	SLC46A2	9	115651953	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	1197407	115651953	25561478	81	53760											
TNC	3371	broad.mit.edu	37	chr9	117835903	117835903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggatgccttcacacgtgCgggcttgctcttgtgtctgc	13	11	3	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr9:117835903C>T	uc004bjj.3	-	10	3555	c.3193G>A	c.(3193-3195)GCA>ACA	p.A1065T	TNC_uc010mvf.2_Missense_Mutation_p.A1065T	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1065	Fibronectin type-III 5.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						TTCACACGTGCGGGCTTGCTC	0.542													T	117835903	C	T	117835903	3	4	78	1	0	0	0	0	1	0	0	0	16267	768	27	1	3488	1	TNC	9	117835903	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	2183950	117835903	23377528	82	53761											
OR1B1	347169	broad.mit.edu	37	chr9	125391471	125391471	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccatgacagcaatgacaAgtgtatctgtaaccccaaat	8	10	1	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr9:125391471A>G	uc011lyz.1	-	1	344	c.344T>C	c.(343-345)CTT>CCT	p.L115P		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B,	115	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGCAATGACAAGTGTATCTGT	0.502													G	125391471	A	G	125391471	3	3	78	1	0	0	0	0	1	0	0	0	10951	72	3	3	615	3	OR1B1	9	125391471	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	7555568	125391471	15821960	83	53762											
DBH	1621	broad.mit.edu	37	chr9	136516786	136516786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccgggatccacatcttcGcctctcagctccacacacac	5	20	2	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr9:136516786G>A	uc004cel.2	+	7	1231	c.1222G>A	c.(1222-1224)GCC>ACC	p.A408T		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	408	Intragranular (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCACATCTTCGCCTCTCAGCT	0.657													A	136516786	G	A	136516786	3	1	78	1	0	0	0	0	1	0	0	0	4250	1087	38	1	1248	1	DBH	9	136516786	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	11125315	136516786	4696645	84	53763											
SOHLH1	402381	broad.mit.edu	37	chr9	138588459	138588459	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcacacccaggactcaccTgagaaagggggcagcccacc	11	15	1	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr9:138588459T>C	uc004cgl.2	-	5	721	c.660A>G	c.(658-660)TCA>TCG	p.S220S	SOHLH1_uc010nbe.2_Silent_p.S220S	NM_001012415	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic	220					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		AGGACTCACCTGAGAAAGGGG	0.657													C	138588459	T	C	138588459	2	2	78	1	0	0	0	0	0	0	0	1	14923	1594	55	3		3	SOHLH1	9	138588459	Silent	SNP	T	TCGA-BR-8366-01A-11D-2340-08	2071673	138588459	2624972	85	53764											
NEBL	10529	broad.mit.edu	37	chr10	21101765	21101765	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccctttataggcagcatcGctgaccacctgggtgttctt	9	13	1	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr10:21101765G>T	uc001iqi.2	-	24	2848	c.2451C>A	c.(2449-2451)AGC>AGA	p.S817R	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Missense_Mutation_p.S154R	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	817	Nebulin 23.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						AGGCAGCATCGCTGACCACCT	0.517													T	21101765	G	T	21101765	3	4	78	1	0	0	0	0	1	0	0	0	10303	1078	38	5	613	5	NEBL	10	21101765	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08		21101765	114432982	86	53765											
PTF1A	256297	broad.mit.edu	37	chr10	23482704	23482704	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actctctctcatggactgatGaaaaacaactcaaggaacaa	6	10	3	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr10:23482704G>T	uc001irp.2	+	2	856	c.856G>T	c.(856-858)GAA>TAA	p.E286*		NM_178161	NP_835455	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	286					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				pancreas(1)|skin(1)	2						ATGGACTGATGAAAAACAACT	0.498													T	23482704	G	T	23482704	4	4	78	1	0	0	0	0	0	1	0	0	12740	1291	45	5	862	5	PTF1A	10	23482704	Nonsense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	2380939	23482704	112052043	87	53766											
GPR158	57512	broad.mit.edu	37	chr10	25887234	25887234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagagaagaaaactgggcaCccacgaacatcgatgttaca	9	10	1	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr10:25887234C>T	uc001isj.2	+	11	2739	c.2679C>T	c.(2677-2679)CAC>CAT	p.H893H	GPR158_uc001isk.2_Silent_p.H268H	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	893	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						AAACTGGGCACCCACGAACAT	0.517													T	25887234	C	T	25887234	2	4	78	1	0	0	0	0	0	0	0	1	6663	506	18	4		4	GPR158	10	25887234	Silent	SNP	C	TCGA-BR-8366-01A-11D-2340-08	2404530	25887234	109647513	88	53767											
ANKRD30A	91074	broad.mit.edu	37	chr10	37451723	37451723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgccactgaaatgcaaaAgtctgtcccaaataaagcct	7	12	1	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr10:37451723A>G	uc001iza.1	+	17	1880	c.1781A>G	c.(1780-1782)AAG>AGG	p.K594R		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	650						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						GAAATGCAAAAGTCTGTCCCA	0.308													G	37451723	A	G	37451723	3	3	78	1	0	0	0	0	1	0	0	0	658	72	3	3	1847	3	ANKRD30A	10	37451723	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	11564489	37451723	98083024	89	53768											
ATRNL1	26033	broad.mit.edu	37	chr10	116930868	116930868	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgaattatgggtttttaAcatacatagtcagtcatgga	9	4	2	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr10:116930868A>C	uc001lcg.2	+	8	1552	c.1166A>C	c.(1165-1167)AAC>ACC	p.N389T	ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Missense_Mutation_p.N389T|ATRNL1_uc009xyq.2_Missense_Mutation_p.T360P	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	389	Kelch 2.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGGGTTTTTAACATACATAGT	0.343													C	116930868	A	C	116930868	3	2	78	1	0	0	0	0	1	0	0	0	1207	43	2	5	1196	5	ATRNL1	10	116930868	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	79479145	116930868	18603879	90	53769											
PNLIP	5406	broad.mit.edu	37	chr10	118321115	118321115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttacctagagtgggagcatCcaagattatagtggagacaa	11	6	0	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr10:118321115C>T	uc001lcm.2	+	12	1344	c.1301C>T	c.(1300-1302)TCC>TTC	p.S434F		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor	434	PLAT.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|skin(1)	3				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	GTGGGAGCATCCAAGATTATA	0.363													T	118321115	C	T	118321115	3	4	78	1	0	0	0	0	1	0	0	0	12149	855	30	4	1343	4	PNLIP	10	118321115	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	1390247	118321115	17213632	91	53770											
HSPA12A	259217	broad.mit.edu	37	chr10	118435928	118435928	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acggagatgctcaatgatgcTatcgatggtcggcttaaaaa	11	7	1	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr10:118435928T>C	uc001lct.2	-	11	1477	c.1372A>G	c.(1372-1374)AGC>GGC	p.S458G	HSPA12A_uc001lcu.2_Missense_Mutation_p.S375G	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	458							ATP binding			ovary(1)	1				all cancers(201;0.0158)		TCAATGATGCTATCGATGGTC	0.567													C	118435928	T	C	118435928	3	2	78	1	0	0	0	0	1	0	0	0	7404	1522	53	3	663	3	HSPA12A	10	118435928	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	114813	118435928	17098819	92	53771											
RGS10	6001	broad.mit.edu	37	chr10	121285571	121285571	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatcttgcattttcttaaaAtcttcacatgctagccaaaa	3	9	4	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr10:121285571A>C	uc001lee.2	-	2	204	c.204T>G	c.(202-204)GAT>GAG	p.D68E	RGS10_uc001lef.2_Missense_Mutation_p.D62E|RGS10_uc001leg.2_Missense_Mutation_p.D76E	NM_002925	NP_002916	O43665	RGS10_HUMAN	regulator of G-protein signaling 10 isoform b	68	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		TTTTCTTAAAATCTTCACATG	0.323													C	121285571	A	C	121285571	3	2	78	1	0	0	0	0	1	0	0	0	13293	98	4	5	329	5	RGS10	10	121285571	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	2849643	121285571	14249176	93	53772											
INPP5A	3632	broad.mit.edu	37	chr10	134563341	134563341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttttccgagacaacaacGgcaccgcggtgagtttgtgg	14	9	0	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr10:134563341G>A	uc001llp.2	+	11	1143	c.895G>A	c.(895-897)GGC>AGC	p.G299S	INPP5A_uc001llo.1_Missense_Mutation_p.G299S|INPP5A_uc001llq.2_Intron	NM_005539	NP_005530	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase A	299					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			skin(1)	1		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		AGACAACAACGGCACCGCGGT	0.562													A	134563341	G	A	134563341	3	1	78	1	0	0	0	0	1	0	0	0	7754	1116	39	1	937	1	INPP5A	10	134563341	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	13277770	134563341	971406	94	53773											
KCNQ1	3784	broad.mit.edu	37	chr11	2604770	2604770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatctccttctttgcgctcCcagcggtaggtgccccgtgg	11	16	2	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr11:2604770C>T	uc001lwn.2	+	7	1135	c.1027C>T	c.(1027-1029)CCA>TCA	p.P343S	KCNQ1_uc009ydp.1_Missense_Mutation_p.P127S|KCNQ1_uc001lwo.2_Missense_Mutation_p.P216S	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like	343	Helical; Name=Segment S6; (Potential).				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			ovary(1)	1		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CTTTGCGCTCCCAGCGGTAGG	0.632													T	2604770	C	T	2604770	3	4	78	1	0	0	0	0	1	0	0	0	8082	623	22	4	1062	4	KCNQ1	11	2604770	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08		2604770	132401746	95	53774											
OR52I1	390037	broad.mit.edu	37	chr11	4615839	4615839	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcacatagctttggccaggTtagcatgtgctgaccccgtg	12	11	0	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr11:4615839T>G	uc010qyi.1	+	1	571	c.571T>G	c.(571-573)TTA>GTA	p.L191V		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I,	191	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTTGGCCAGGTTAGCATGTGC	0.493													G	4615839	T	G	4615839	3	3	78	1	0	0	0	0	1	0	0	0	11120	1722	60	5	573	5	OR52I1	11	4615839	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	2011069	4615839	130390677	96	53775											
OR5D14	219436	broad.mit.edu	37	chr11	55563231	55563231	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgtactttttccttagtcAcctctcttttgttgattttt	4	8	2	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr11:55563231A>G	uc010rim.1	+	1	200	c.200A>G	c.(199-201)CAC>CGC	p.H67R		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)				TTCCTTAGTCACCTCTCTTTT	0.383													G	55563231	A	G	55563231	3	3	78	1	0	0	0	0	1	0	0	0	11155	159	6	3	202	3	OR5D14	11	55563231	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	50947392	55563231	79443285	97	53776											
RARRES3	5920	broad.mit.edu	37	chr11	63312231	63312231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggaccatgagtaccaacCacggcccgtggaggtgatca	12	12	1	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr11:63312231C>T	uc001nxf.3	+	3	325	c.257C>T	c.(256-258)CCA>CTA	p.P86L		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene	86					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			ovary(1)	1						GAGTACCAACCACGGCCCGTG	0.537													T	63312231	C	T	63312231	3	4	78	1	0	0	0	0	1	0	0	0	13057	594	21	4	267	4	RARRES3	11	63312231	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	7749000	63312231	71694285	98	53777											
FOXM1	2305	broad.mit.edu	37	chr12	2968120	2968120	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaagggagtggtgctgAgatccatcagccccaggggg	16	9	1	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr12:2968120A>G	uc001qlf.2	-	9	2241	c.1976T>C	c.(1975-1977)CTC>CCC	p.L659P	uc001qld.2_Intron|FOXM1_uc001qle.2_Missense_Mutation_p.L697P|FOXM1_uc001qlg.2_Missense_Mutation_p.L644P|FOXM1_uc009zea.2_Missense_Mutation_p.L644P|FOXM1_uc009zeb.2_Missense_Mutation_p.L643P	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	forkhead box M1 isoform 2	659					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			AGTGGTGCTGAGATCCATCAG	0.592													G	2968120	A	G	2968120	3	3	78	1	0	0	0	0	1	0	0	0	6018	304	11	3	319	3	FOXM1	12	2968120	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08		2968120	130883775	99	53778											
VWF	7450	broad.mit.edu	37	chr12	6078421	6078421	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggtcttacagctcagcTgaaagcccgaggggcagaca	13	11	2	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr12:6078421T>G	uc001qnn.1	-	45	7935	c.7685A>C	c.(7684-7686)CAG>CCG	p.Q2562P	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2562					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	ACAGCTCAGCTGAAAGCCCGA	0.587													G	6078421	T	G	6078421	3	3	78	1	0	0	0	0	1	0	0	0	17243	1580	55	5	788	5	VWF	12	6078421	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	3110301	6078421	127773474	100	53779											
PDE3A	5139	broad.mit.edu	37	chr12	20523121	20523121	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtgtccgccgagatgtcCggctgcagcagcaagtccca	13	14	0	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr12:20523121C>T	uc001reh.1	+	1	925	c.903C>T	c.(901-903)TCC>TCT	p.S301S		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	301					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCGAGATGTCCGGCTGCAGCA	0.587													T	20523121	C	T	20523121	2	4	78	1	0	0	0	0	0	0	0	1	11637	639	23	1		1	PDE3A	12	20523121	Silent	SNP	C	TCGA-BR-8366-01A-11D-2340-08	14444700	20523121	113328774	101	53780											
GYS2	2998	broad.mit.edu	37	chr12	21757519	21757519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttacagagagggatcggcctCgaagcattcttcttacagtc	10	10	2	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr12:21757519C>T	uc001rfb.2	-	1	263	c.8G>A	c.(7-9)CGA>CAA	p.R3Q		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	3					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			lung(1)|skin(1)	2						GGATCGGCCTCGAAGCATTCT	0.473													T	21757519	C	T	21757519	3	4	78	1	0	0	0	0	1	0	0	0	6913	884	31	1	2167	1	GYS2	12	21757519	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	1234398	21757519	112094376	102	53781											
LDHB	3945	broad.mit.edu	37	chr12	21807527	21807527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaacttgtccaacacccaCtacagtgatcttattgtttg	5	12	1	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr12:21807527C>T	uc001rfc.2	-	1	97	c.79G>A	c.(79-81)GTG>ATG	p.V27M	LDHB_uc001rfd.2_Missense_Mutation_p.V27M|LDHB_uc001rfe.2_Missense_Mutation_p.V27M	NM_002300	NP_002291	P07195	LDHB_HUMAN	L-lactate dehydrogenase B	27					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|ovary(1)	3					NADH(DB00157)	CCAACACCCACTACAGTGATC	0.423													T	21807527	C	T	21807527	3	4	78	1	0	0	0	0	1	0	0	0	8701	565	20	4	953	4	LDHB	12	21807527	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	50008	21807527	112044368	103	53782											
CASC1	55259	broad.mit.edu	37	chr12	25264751	25264751	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgagagtgtctagtaggaaaGatattcagtccagcttcttt	10	6	3	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr12:25264751G>A	uc001rgl.2	-	13	1798	c.1716C>T	c.(1714-1716)ATC>ATT	p.I572I	CASC1_uc001rgk.2_Silent_p.I578I|CASC1_uc001rgm.3_Silent_p.I636I|CASC1_uc001rgj.2_Silent_p.I532I|CASC1_uc010sje.1_Silent_p.I513I|CASC1_uc010sjf.1_Silent_p.I460I	NM_001082973	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1 isoform b	572										ovary(2)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TAGTAGGAAAGATATTCAGTC	0.318													A	25264751	G	A	25264751	2	1	78	1	0	0	0	0	0	0	0	1	2660	932	33	4		4	CASC1	12	25264751	Silent	SNP	G	TCGA-BR-8366-01A-11D-2340-08	3457224	25264751	108587144	104	53783											
KRAS	3845	broad.mit.edu	37	chr12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgcactgtactcctcTtgacctgctgtgtcgagaat	8	12	2	2	rs17851045		TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr12:25380275T>G	uc001rgp.1	-	3	364	c.183A>C	c.(181-183)CAA>CAC	p.Q61H	KRAS_uc001rgq.1_Missense_Mutation_p.Q61H	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	61	GTP.		Q -> R (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(140)|p.Q61L(51)|p.Q61R(44)|p.Q61K(24)|p.Q61P(11)|p.Q61E(10)|p.Q61D(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(T3M4_PANCREAS)|Q61H(HS766T_PANCREAS)|Q61H(NCIH460_LUNG)|Q61H(NCIH1155_LUNG)|Q61H(CL11_LARGE_INTESTINE)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			G	25380275	T	G	25380275	3	3	78	1	0	0	0	0	1	0	0	0	8438	1606	56	5	519	5	KRAS	12	25380275	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	115524	25380275	108471620	105	53784											
KRT85	3891	broad.mit.edu	37	chr12	52754645	52754645	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatgactctactaggcaaAgcggaccgaccggctactcc	9	15	1	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr12:52754645A>G	uc001sag.2	-	9	1636	c.1516T>C	c.(1516-1518)TTT>CTT	p.F506L		NM_002283	NP_002274	P78386	KRT85_HUMAN	keratin 85	506	Tail.				epidermis development	keratin filament	protein binding|structural molecule activity			ovary(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TACTAGGCAAAGCGGACCGAC	0.607													G	52754645	A	G	52754645	3	3	78	1	0	0	0	0	1	0	0	0	8499	72	3	3	11	3	KRT85	12	52754645	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	27374370	52754645	81097250	106	53785											
ITGB7	3695	broad.mit.edu	37	chr12	53587072	53587072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccattgggagcccggcaCccagattccaggtctgggga	15	12	1	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr12:53587072C>T	uc009zmv.2	-	11	1649	c.1578G>A	c.(1576-1578)GGG>GGA	p.G526G	ITGB7_uc001scc.2_Silent_p.G526G|ITGB7_uc010snz.1_Intron	NM_000889	NP_000880	P26010	ITB7_HUMAN	integrin, beta 7 precursor	526	Cysteine-rich tandem repeats.|Extracellular (Potential).|I.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1)	8						GAGCCCGGCACCCAGATTCCA	0.632													T	53587072	C	T	53587072	2	4	78	1	0	0	0	0	0	0	0	1	7900	494	18	4		4	ITGB7	12	53587072	Silent	SNP	C	TCGA-BR-8366-01A-11D-2340-08	832427	53587072	80264823	107	53786											
TMCC3	57458	broad.mit.edu	37	chr12	94976127	94976127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccgcaacattcccatcgCgcgatgtttgctcaattttt	6	13	1	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr12:94976127C>T	uc001tdj.2	-	2	384	c.266G>A	c.(265-267)CGC>CAC	p.R89H	TMCC3_uc001tdi.2_Missense_Mutation_p.R58H	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	89						integral to membrane				ovary(1)|skin(1)	2						ATTCCCATCGCGCGATGTTTG	0.448													T	94976127	C	T	94976127	3	4	78	1	0	0	0	0	1	0	0	0	15991	768	27	1	1179	1	TMCC3	12	94976127	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	41389055	94976127	38875768	108	53787											
VPS29	51699	broad.mit.edu	37	chr12	110933945	110933945	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctggcaccaggagtttttTgaatttagctggcaaactgt	10	8	0	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr12:110933945T>C	uc001tqy.2	-	2	127	c.67A>G	c.(67-69)AAA>GAA	p.K23E	VPS29_uc001tqw.2_RNA|VPS29_uc001tqx.2_Missense_Mutation_p.K27E|VPS29_uc001tqz.2_RNA	NM_016226	NP_057310	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 isoform 1	23					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity				0						AGGAGTTTTTTGAATTTAGCT	0.423													C	110933945	T	C	110933945	3	2	78	1	0	0	0	0	1	0	0	0	17197	1821	63	3	493	3	VPS29	12	110933945	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	15957818	110933945	22917950	109	53788											
TMEM132B	114795	broad.mit.edu	37	chr12	126138782	126138782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgatcaactgcgtggcGtttgcctggaaatacagaca	10	9	2	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr12:126138782G>A	uc001uhe.1	+	9	2771	c.2763G>A	c.(2761-2763)GCG>GCA	p.A921A	TMEM132B_uc001uhf.1_Silent_p.A433A	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	921	Helical; (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACTGCGTGGCGTTTGCCTGGA	0.522													A	126138782	G	A	126138782	2	1	78	1	0	0	0	0	0	0	0	1	16043	1132	40	1		1	TMEM132B	12	126138782	Silent	SNP	G	TCGA-BR-8366-01A-11D-2340-08	15204837	126138782	7713113	110	53789											
MMP17	4326	broad.mit.edu	37	chr12	132326256	132326256	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggccgctgcacactccaTcatgcggccgtactaccagg	11	15	1	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr12:132326256T>C	uc001ujc.1	+	5	893	c.794T>C	c.(793-795)ATC>ACC	p.I265T	MMP17_uc001ujd.1_Missense_Mutation_p.I181T	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	265					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		GCACACTCCATCATGCGGCCG	0.642													C	132326256	T	C	132326256	3	2	78	1	0	0	0	0	1	0	0	0	9656	1435	50	3	812	3	MMP17	12	132326256	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	6187474	132326256	1525639	111	53790											
SGCG	6445	broad.mit.edu	37	chr13	23824817	23824817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatgtgactgtaaatgcgCgcaactcagaaggggaggtc	14	7	1	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr13:23824817C>T	uc001uom.2	+	4	501	c.346C>T	c.(346-348)CGC>TGC	p.R116C	SGCG_uc009zzv.2_Missense_Mutation_p.R116C|SGCG_uc009zzw.2_Missense_Mutation_p.R116C	NM_000231	NP_000222	Q13326	SGCG_HUMAN	gamma sarcoglycan	116	Extracellular (Potential).				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma					0		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		TGTAAATGCGCGCAACTCAGA	0.403													T	23824817	C	T	23824817	3	4	78	1	0	0	0	0	1	0	0	0	14203	768	27	1	356	1	SGCG	13	23824817	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08		23824817	91345061	112	53791											
MLNR	2862	broad.mit.edu	37	chr13	49795336	49795336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaggcccggccgcctcggGgcgggagagaggccaccggc	20	15	0	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr13:49795336G>A	uc010tgj.1	+	1	863	c.863G>A	c.(862-864)GGG>GAG	p.G288E		NM_001507	NP_001498	O43193	MTLR_HUMAN	motilin receptor	288	Cytoplasmic (Potential).				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity				0		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		GCCGCCTCGGGGCGGGAGAGA	0.721													A	49795336	G	A	49795336	3	1	78	1	0	0	0	0	1	0	0	0	9632	1232	43	4	865	4	MLNR	13	49795336	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	25970519	49795336	65374542	113	53792											
OR11H12	440153	broad.mit.edu	37	chr14	19378049	19378049	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctctatcctaatatcatgacTgggcatctctgtgccaaact	6	12	3	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr14:19378049T>A	uc010tkp.1	+	1	456	c.456T>A	c.(454-456)ACT>ACA	p.T152T		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H,	152	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATATCATGACTGGGCATCTCT	0.478													A	19378049	T	A	19378049	2	1	78	1	0	0	0	0	0	0	0	1	10927	1567	55	5		5	OR11H12	14	19378049	Silent	SNP	T	TCGA-BR-8366-01A-11D-2340-08		19378049	87971491	114	53793											
PYGL	5836	broad.mit.edu	37	chr14	51383390	51383390	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtttttcaatatccacAaaaatcctcatcagctcagg	6	11	4	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr14:51383390A>G	uc001wyu.2	-	9	1189	c.1062T>C	c.(1060-1062)TTT>TTC	p.F354F	PYGL_uc010tqq.1_Silent_p.F320F|PYGL_uc001wyv.2_Silent_p.F28F|PYGL_uc010anz.1_Silent_p.F157F	NM_002863	NP_002854	P06737	PYGL_HUMAN	liver glycogen phosphorylase isoform 1	354					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			skin(1)	1	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CAATATCCACAAAAATCCTCA	0.473													G	51383390	A	G	51383390	2	3	78	1	0	0	0	0	0	0	0	1	12861	127	5	3		3	PYGL	14	51383390	Silent	SNP	A	TCGA-BR-8366-01A-11D-2340-08	32005341	51383390	55966150	115	53794											
MYO1E	4643	broad.mit.edu	37	chr15	59548485	59548485	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taaggatcttcttcatacctGataatgacgcactggttctc	7	10	4	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr15:59548485G>T	uc002aga.2	-	4	702	c.330C>A	c.(328-330)ATC>ATA	p.I110I		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	110	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)		CTTCATACCTGATAATGACGC	0.418													T	59548485	G	T	59548485	2	4	78	1	0	0	0	0	0	0	0	1	10072	1280	45	5		5	MYO1E	15	59548485	Silent	SNP	G	TCGA-BR-8366-01A-11D-2340-08		59548485	42982907	116	53795											
RBPMS2	348093	broad.mit.edu	37	chr15	65041332	65041332	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagagtctgtggattttcGggatcaaagcgaatacccta	10	9	3	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr15:65041332G>A	uc002anq.2	-	5	537	c.285C>T	c.(283-285)CCC>CCT	p.P95P		NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	95	RRM.						nucleic acid binding|nucleotide binding				0						GTGGATTTTCGGGATCAAAGC	0.512													A	65041332	G	A	65041332	2	1	78	1	0	0	0	0	0	0	0	1	13164	1103	39	1		1	RBPMS2	15	65041332	Silent	SNP	G	TCGA-BR-8366-01A-11D-2340-08	5492847	65041332	37490060	117	53796											
NEO1	4756	broad.mit.edu	37	chr15	73580780	73580780	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacccattgataagtctccAgacccaaaccccatcatgac	4	15	2	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr15:73580780A>G	uc002avm.3	+	24	3679	c.3537A>G	c.(3535-3537)CCA>CCG	p.P1179P	NEO1_uc010ukx.1_Silent_p.P1168P|NEO1_uc010uky.1_Silent_p.P1179P|NEO1_uc010ukz.1_Silent_p.P592P|NEO1_uc002avn.3_Silent_p.P817P	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	1179	Cytoplasmic (Potential).				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						ATAAGTCTCCAGACCCAAACC	0.448													G	73580780	A	G	73580780	2	3	78	1	0	0	0	0	0	0	0	1	10336	175	7	3		3	NEO1	15	73580780	Silent	SNP	A	TCGA-BR-8366-01A-11D-2340-08	8539448	73580780	28950612	118	53797											
ARNT2	9915	broad.mit.edu	37	chr15	80743280	80743280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcccccatggcggccaccGgacaggtgaggatggcgggg	18	12	0	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr15:80743280G>A	uc002bfr.2	+	2	257	c.91G>A	c.(91-93)GGA>AGA	p.G31R	ARNT2_uc002bfq.2_Missense_Mutation_p.G31R|ARNT2_uc010unm.1_Missense_Mutation_p.G20R|ARNT2_uc002bfs.2_Missense_Mutation_p.G20R	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	31					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			GGCGGCCACCGGACAGGTGAG	0.552													A	80743280	G	A	80743280	3	1	78	1	0	0	0	0	1	0	0	0	966	1117	39	1	97	1	ARNT2	15	80743280	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	7162500	80743280	21788112	119	53798											
ARNT2	9915	broad.mit.edu	37	chr15	80867400	80867400	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggcggatgcaatcttcTcccaggaaagagatcctcgg	11	10	2	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr15:80867400T>C	uc002bfr.2	+	14	1628	c.1462T>C	c.(1462-1464)TCC>CCC	p.S488P	ARNT2_uc010unm.1_Missense_Mutation_p.S477P|ARNT2_uc002bfs.2_Missense_Mutation_p.S477P	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	488					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			TGCAATCTTCTCCCAGGAAAG	0.468													C	80867400	T	C	80867400	3	2	78	1	0	0	0	0	1	0	0	0	966	1551	54	3	1516	3	ARNT2	15	80867400	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	124120	80867400	21663992	120	53799											
ZNF592	9640	broad.mit.edu	37	chr15	85328011	85328011	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccttgccactctacccagAccctgtgaggctcatccggt	9	16	2	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr15:85328011A>G	uc002bld.2	+	4	2441	c.2105A>G	c.(2104-2106)GAC>GGC	p.D702G	ZNF592_uc010upb.1_RNA	NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	702					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(2)	6			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCTACCCAGACCCTGTGAGG	0.582													G	85328011	A	G	85328011	3	3	78	1	0	0	0	0	1	0	0	0	18019	275	10	3	2107	3	ZNF592	15	85328011	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	4460611	85328011	17203381	121	53800											
WDR24	84219	broad.mit.edu	37	chr16	737013	737013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacgaggctctccttggCggcgaaggccaggtccccga	14	15	1	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr16:737013C>T	uc002ciz.1	-	3	1823	c.1063G>A	c.(1063-1065)GCC>ACC	p.A355T	JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002cix.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	485										ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)				CTCTCCTTGGCGGCGAAGGCC	0.701													T	737013	C	T	737013	3	4	78	1	0	0	0	0	1	0	0	0	17278	768	27	1	1337	1	WDR24	16	737013	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08		737013	89617740	122	53801											
IGFALS	3483	broad.mit.edu	37	chr16	1841347	1841347	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgttggtgaggccgaggaAagcgcccgccttgacctcct	13	14	0	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr16:1841347A>C	uc002cmy.2	-	2	1153	c.1072T>G	c.(1072-1074)TTC>GTC	p.F358V	IGFALS_uc010uvn.1_Missense_Mutation_p.F396V|IGFALS_uc010uvo.1_5'UTR	NM_004970	NP_004961	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid	358	LRR 12.				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding				0						AGGCCGAGGAAAGCGCCCGCC	0.652													C	1841347	A	C	1841347	3	2	78	1	0	0	0	0	1	0	0	0	7577	14	1	5	749	5	IGFALS	16	1841347	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	1104334	1841347	88513406	123	53802											
ZNF598	90850	broad.mit.edu	37	chr16	2052383	2052383	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcggccttcctcacacagaAagtgcttctcccggaagtgc	10	14	2	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr16:2052383A>C	uc002cof.1	-	7	734	c.719T>G	c.(718-720)TTT>TGT	p.F240C	ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	240						intracellular	zinc ion binding			lung(1)|breast(1)	2						CTCACACAGAAAGTGCTTCTC	0.657													C	2052383	A	C	2052383	3	2	78	1	0	0	0	0	1	0	0	0	18025	14	1	5	2027	5	ZNF598	16	2052383	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	211036	2052383	88302370	124	53803											
SEPT12	124404	broad.mit.edu	37	chr16	4835891	4835891	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acacccttctcctctatgacTgtggagggagagcagagtcg	12	11	2	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr16:4835891T>G	uc002cxq.2	-	4	434	c.293_splice	c.e4-1	p.V98_splice	SEPT12_uc002cxr.2_Splice_Site_p.V98_splice|SEPT12_uc010bty.2_Splice_Site|uc002cxt.2_5'Flank	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	septin 12 isoform 2						cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			skin(1)	1						CCTCTATGACTGTGGAGGGAG	0.458													G	4835891	T	G	4835891	5	3	78	1	0	0	0	0	0	0	1	0	14062	1594	55	5	813	5	SEPT12	16	4835891	Splice_Site	SNP	T	TCGA-BR-8366-01A-11D-2340-08	2783508	4835891	85518862	125	53804											
SNX29	92017	broad.mit.edu	37	chr16	12571649	12571649	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcaggagtttgcaccacaAgttacaaaacaagtaccctc	7	11	1	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr16:12571649A>C	uc002dby.3	+	12	1012	c.956A>C	c.(955-957)AAG>ACG	p.K319T		NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	319	PX.				cell communication		phosphatidylinositol binding			ovary(1)	1						TTGCACCACAAGTTACAAAAC	0.453													C	12571649	A	C	12571649	3	2	78	1	0	0	0	0	1	0	0	0	14898	72	3	5	998	5	SNX29	16	12571649	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	7735758	12571649	77783104	126	53805											
MYH11	4629	broad.mit.edu	37	chr16	15818135	15818135	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttggtcttttccagtttAtcataagcggccgccttctc	7	12	4	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr16:15818135A>C	uc002ddy.2	-	31	4355	c.4248T>G	c.(4246-4248)GAT>GAG	p.D1416E	MYH11_uc002ddv.2_Missense_Mutation_p.D1423E|MYH11_uc002ddw.2_Missense_Mutation_p.D1416E|MYH11_uc002ddx.2_Missense_Mutation_p.D1423E|MYH11_uc010bvg.2_Missense_Mutation_p.D1248E|NDE1_uc010uzy.1_3'UTR|NDE1_uc002dds.2_3'UTR|MYH11_uc010bvh.2_Missense_Mutation_p.D122E|NDE1_uc002ddz.1_RNA	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1416	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						TTTCCAGTTTATCATAAGCGG	0.537			T	CBFB	AML								C	15818135	A	C	15818135	3	2	78	1	0	0	0	0	1	0	0	0	10031	446	16	5	1749	5	MYH11	16	15818135	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	3246486	15818135	74536618	127	53806											
ABCC12	94160	broad.mit.edu	37	chr16	48173097	48173097	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgggtatgaatatgacatAcactgatatcccgatgagag	11	7	0	4			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr16:48173097A>G	uc002efc.1	-	5	1154	c.808T>C	c.(808-810)TAT>CAT	p.Y270H	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.Y270H|ABCC12_uc010vgj.1_Splice_Site	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	270	ABC transmembrane type-1 1.|Helical; (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				AATATGACATACACTGATATC	0.488													G	48173097	A	G	48173097	3	3	78	1	0	0	0	0	1	0	0	0	52	391	14	3	3371	3	ABCC12	16	48173097	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	32354962	48173097	42181656	128	53807											
NUP93	9688	broad.mit.edu	37	chr16	56857749	56857749	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcaggccttggcgtaccTtgagcagaggtaaggcagca	15	10	0	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr16:56857749T>G	uc002eka.2	+	8	906	c.785T>G	c.(784-786)CTT>CGT	p.L262R	NUP93_uc002ekb.2_Missense_Mutation_p.L139R|NUP93_uc010vhi.1_Missense_Mutation_p.L139R	NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	262					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(1)|lung(1)	2						TTGGCGTACCTTGAGCAGAGG	0.542													G	56857749	T	G	56857749	3	3	78	1	0	0	0	0	1	0	0	0	10772	1609	56	5	811	5	NUP93	16	56857749	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	8684652	56857749	33497004	129	53808											
NFATC3	4775	broad.mit.edu	37	chr16	68224974	68224974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacacctcctgtggggtcttCctatcagcctatgcaaacta	7	13	2	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr16:68224974C>T	uc002evo.1	+	9	2612	c.2402C>T	c.(2401-2403)TCC>TTC	p.S801F	NFATC3_uc010vkl.1_Missense_Mutation_p.S322F|NFATC3_uc010vkm.1_Missense_Mutation_p.S322F|NFATC3_uc010vkn.1_Missense_Mutation_p.S322F|NFATC3_uc010vko.1_Missense_Mutation_p.S322F|NFATC3_uc010vkp.1_Missense_Mutation_p.S322F|NFATC3_uc010vkq.1_Missense_Mutation_p.S322F|NFATC3_uc002evl.2_Missense_Mutation_p.S322F|NFATC3_uc002evk.2_Missense_Mutation_p.S801F|NFATC3_uc002evm.1_Missense_Mutation_p.S801F|NFATC3_uc002evn.1_Missense_Mutation_p.S801F|NFATC3_uc010vkr.1_Missense_Mutation_p.S322F|NFATC3_uc010vks.1_Missense_Mutation_p.S322F|NFATC3_uc010vkt.1_Missense_Mutation_p.S322F|NFATC3_uc010vku.1_Missense_Mutation_p.S322F|NFATC3_uc010vkv.1_Missense_Mutation_p.S322F|NFATC3_uc010vkw.1_Missense_Mutation_p.S322F|NFATC3_uc010vkx.1_Missense_Mutation_p.S322F|NFATC3_uc010vky.1_Missense_Mutation_p.S322F|NFATC3_uc010vkz.1_Missense_Mutation_p.S322F|NFATC3_uc010vla.1_Missense_Mutation_p.S322F|NFATC3_uc010vlb.1_Missense_Mutation_p.S322F|NFATC3_uc010vlc.1_Missense_Mutation_p.S322F	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells,	801					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GTGGGGTCTTCCTATCAGCCT	0.413													T	68224974	C	T	68224974	3	4	78	1	0	0	0	0	1	0	0	0	10364	855	30	4	2436	4	NFATC3	16	68224974	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	11367225	68224974	22129779	130	53809											
ZFP1	162239	broad.mit.edu	37	chr16	75203884	75203884	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccagagaattcatacaggAgagcgaccctatgagtgtaa	10	9	1	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr16:75203884A>G	uc002fdo.2	+	4	1040	c.876A>G	c.(874-876)GGA>GGG	p.G292G	ZFP1_uc002fdp.2_Silent_p.G237G|ZFP1_uc010cgt.2_Silent_p.G259G|ZFP1_uc010cgs.2_Silent_p.G237G|ZFP1_uc002fdq.2_Silent_p.G292G	NM_153688	NP_710155	Q6P2D0	ZFP1_HUMAN	zinc finger protein 1 homolog	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						TTCATACAGGAGAGCGACCCT	0.428													G	75203884	A	G	75203884	2	3	78	1	0	0	0	0	0	0	0	1	17633	291	11	3		3	ZFP1	16	75203884	Silent	SNP	A	TCGA-BR-8366-01A-11D-2340-08	6978910	75203884	15150869	131	53810											
LRRC50	123872	broad.mit.edu	37	chr16	84189352	84189352	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctggaaagcatgcccgatTtggtaaaaaacaaaaacaaa	7	7	1	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr16:84189352T>G	uc002fhl.3	+	5	920	c.739T>G	c.(739-741)TTG>GTG	p.L247V	LRRC50_uc010chi.1_RNA	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	leucine rich repeat containing 50	247					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding				0						CATGCCCGATTTGGTAaaaaa	0.348									Kartagener_syndrome				G	84189352	T	G	84189352	3	3	78	1	0	0	0	0	1	0	0	0	9009	1838	64	5	757	5	LRRC50	16	84189352	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	8985468	84189352	6165401	132	53811											
METT10D	79066	broad.mit.edu	37	chr17	2323552	2323552	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acccctcccttttcctcactCctttcatcctccgtgggttc	4	19	2	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr17:2323552C>T	uc002fut.2	-	10	1549	c.1401G>A	c.(1399-1401)AGG>AGA	p.R467R	METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Intron|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_Silent_p.R249R	NM_024086	NP_076991	Q86W50	MET16_HUMAN	methyltransferase 10 domain containing	467							methyltransferase activity				0						TTTCCTCACTCCTTTCATCCT	0.627													T	2323552	C	T	2323552	2	4	78	1	0	0	0	0	0	0	0	1	9490	854	30	4		4	METT10D	17	2323552	Silent	SNP	C	TCGA-BR-8366-01A-11D-2340-08		2323552	78871658	133	53812											
EIF4A1	1973	broad.mit.edu	37	chr17	7476162	7476162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctagtttctaaggatcatGtctgcgagccaggattcccg	10	12	3	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr17:7476162G>A	uc002gho.1	+	9	1328	c.3G>A	c.(1-3)ATG>ATA	p.M1I	EIF4A1_uc002ghr.1_Missense_Mutation_p.M1I|EIF4A1_uc002ghq.1_Missense_Mutation_p.M1I|EIF4A1_uc002ghp.1_Missense_Mutation_p.M1I|SNORA48_uc002ghs.1_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A	1					nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			ovary(1)	1						TAAGGATCATGTCTGCGAGCC	0.622													A	7476162	G	A	7476162	3	1	78	1	0	0	0	0	1	0	0	0	5024	1377	48	4	5	4	EIF4A1	17	7476162	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	5152610	7476162	73719048	134	53813											
MYH8	4626	broad.mit.edu	37	chr17	10322320	10322320	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcggagggttcatagggaAgacttggtcttccctgacag	13	8	2	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr17:10322320A>C	uc002gmm.2	-	4	333	c.238T>G	c.(238-240)TTC>GTC	p.F80V	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	80	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						TTCATAGGGAAGACTTGGTCT	0.368									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				C	10322320	A	C	10322320	3	2	78	1	0	0	0	0	1	0	0	0	10041	72	3	5	5723	5	MYH8	17	10322320	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	2846158	10322320	70872890	135	53814											
AOC3	8639	broad.mit.edu	37	chr17	41003597	41003598	+	Frame_Shift_Ins	INS	-	-	G													gctttctgacccagcggctgINSgggccagggctggtggatgc							TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	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													G	41003598	-	G	41003597	7	5	78	1	0	1	1	0	0	0	0	0	728	1335	47	0	239	0	AOC3	17	41003597	Frame_Shift_Ins	INS	-	TCGA-BR-8366-01A-11D-2340-08	30681277	41003597	40191613	136	53815											
SKAP1	8631	broad.mit.edu	37	chr17	46262125	46262125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggaggtcagttcaaagcagGattctttcttggaatctctt	11	7	5	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr17:46262125G>A	uc002ini.1	-	7	639	c.527C>T	c.(526-528)TCC>TTC	p.S176F	SKAP1_uc002inj.1_Missense_Mutation_p.S176F|SKAP1_uc010dbd.1_Missense_Mutation_p.S82F|SKAP1_uc010dbe.1_Missense_Mutation_p.S176F	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1 isoform	176	PH.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding				0						TTCAAAGCAGGATTCTTTCTT	0.522													A	46262125	G	A	46262125	3	1	78	1	0	0	0	0	1	0	0	0	14355	1174	41	4	576	4	SKAP1	17	46262125	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	5258528	46262125	34933085	137	53816											
FTSJ3	117246	broad.mit.edu	37	chr17	61897524	61897524	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcctggtctgctccagccTcttcagcatctgcaaaggaa	8	14	4	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr17:61897524T>G	uc002jbz.2	-	19	2344	c.2266A>C	c.(2266-2268)AGG>CGG	p.R756R	FTSJ3_uc002jca.2_Silent_p.R756R	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	756					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						TGCTCCAGCCTCTTCAGCATC	0.572													G	61897524	T	G	61897524	2	3	78	1	0	0	0	0	0	0	0	1	6089	1550	54	5		5	FTSJ3	17	61897524	Silent	SNP	T	TCGA-BR-8366-01A-11D-2340-08	15635399	61897524	19297686	138	53817											
SLC16A6	9120	broad.mit.edu	37	chr17	66267274	66267274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaccagctccgatccttcCgaaaacttctgcaatggcca	6	14	1	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr17:66267274C>T	uc002jgz.1	-	5	1215	c.1027G>A	c.(1027-1029)GGA>AGA	p.G343R	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Missense_Mutation_p.G343R	NM_004694	NP_004685	O15403	MOT7_HUMAN	solute carrier family 16, member 6	343	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity				0	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CCGATCCTTCCGAAAACTTCT	0.468													T	66267274	C	T	66267274	3	4	78	1	0	0	0	0	1	0	0	0	14412	661	23	1	552	1	SLC16A6	17	66267274	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	4369750	66267274	14927936	139	53818											
COLEC12	81035	broad.mit.edu	37	chr18	480739	480739	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaccgaaggattgcacctccTcctcctctgcgaagtcgtct	8	15	2	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr18:480739T>A	uc002kkm.2	-	2	241	c.26A>T	c.(25-27)GAG>GTG	p.E9V		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	9	Cytoplasmic (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TTGCACCTCCTCCTCCTCTGC	0.542													A	480739	T	A	480739	3	1	78	1	0	0	0	0	1	0	0	0	3712	1551	54	5	2238	5	COLEC12	18	480739	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08		480739	77596509	140	53819											
HRH4	59340	broad.mit.edu	37	chr18	22040828	22040828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttgtggtggacaaaaacCttagacatcgaagtagttat	9	6	0	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr18:22040828C>T	uc002kvi.2	+	1	236	c.136C>T	c.(136-138)CTT>TTT	p.L46F	HRH4_uc010xbd.1_Missense_Mutation_p.L46F|HRH4_uc010dlx.2_Missense_Mutation_p.L46F	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	histamine H4 receptor isoform 1	46	Cytoplasmic (Potential).					integral to membrane|plasma membrane	histamine receptor activity			ovary(2)	2	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	GGACAAAAACCTTAGACATCG	0.333													T	22040828	C	T	22040828	3	4	78	1	0	0	0	0	1	0	0	0	7358	681	24	4	138	4	HRH4	18	22040828	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	21560089	22040828	56036420	141	53820											
SMAD4	4089	broad.mit.edu	37	chr18	48604747	48604748	+	Missense_Mutation	DNP	CT	CT	TA													agcatcaaagaaacaccttgCtggattgaaattcacttaca							TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr18:48604747_48604748CT>TA	uc010xdp.1	+	12	2107_2108	c.1569_1570CT>TA	c.(1567-1572)TGCTGG>TGTAGG	p.W524R	SMAD4_uc002lfb.3_Missense_Mutation_p.W369R	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	524	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.C523W(2)|p.?(2)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AAACACCTTGCTGGATTGAAAT	0.48									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				TA	48604748	CT	TA	48604747	3	4	78	1	0	0	0	0	1	0	0	0	14760	805	28	2	1611	2	SMAD4	18	48604747	Missense_Mutation	DNP	CT	TCGA-BR-8366-01A-11D-2340-08	26563919	48604747	29472501	142	53821											
TLE2	7089	broad.mit.edu	37	chr19	3005565	3005565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgcagctggcgccgtccGtgtggccctggaactgcctg	14	14	0	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr19:3005565G>A	uc002lww.2	-	17	2029	c.1766C>T	c.(1765-1767)ACG>ATG	p.T589M	TLE2_uc010xhb.1_Missense_Mutation_p.T256M|TLE2_uc010dth.2_Missense_Mutation_p.T590M|TLE2_uc010xhc.1_Missense_Mutation_p.T467M|TLE2_uc010dti.2_Missense_Mutation_p.T603M	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	589	WD 4.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGCCGTCCGTGTGGCCCTG	0.662													A	3005565	G	A	3005565	3	1	78	1	0	0	0	0	1	0	0	0	15936	1145	40	1	481	1	TLE2	19	3005565	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08		3005565	56123418	143	53822											
TBXA2R	6915	broad.mit.edu	37	chr19	3600235	3600235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagaagggccgggtgataCccaggtagcgctctgaggcc	17	11	1	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr19:3600235C>T	uc002lyg.1	-	2	612	c.398G>A	c.(397-399)GGT>GAT	p.G133D	TBXA2R_uc002lye.1_Intron	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	133	Cytoplasmic (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CCGGGTGATACCCAGGTAGCG	0.736													T	3600235	C	T	3600235	3	4	78	1	0	0	0	0	1	0	0	0	15660	507	18	4	886	4	TBXA2R	19	3600235	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	594670	3600235	55528748	144	53823											
CCDC94	55702	broad.mit.edu	37	chr19	4249309	4249309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacgtggtgcggctgatgGcccccttcaacatgaggtga	14	10	1	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr19:4249309G>A	uc002lzv.3	+	2	142	c.109G>A	c.(109-111)GCC>ACC	p.A37T		NM_018074	NP_060544	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	37											0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		GCGGCTGATGGCCCCCTTCAA	0.602													A	4249309	G	A	4249309	3	1	78	1	0	0	0	0	1	0	0	0	2873	1203	42	2	115	2	CCDC94	19	4249309	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	649074	4249309	54879674	145	53824											
ELAVL1	1994	broad.mit.edu	37	chr19	8056617	8056617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctgggtcatgttctgaGggaggtagttgacgatcaaa	13	7	3	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr19:8056617G>A	uc002mjb.2	-	2	250	c.83C>T	c.(82-84)CCT>CTT	p.P28L		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	ELAV-like 1	28	RRM 1.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding				0						CATGTTCTGAGGGAGGTAGTT	0.428													A	8056617	G	A	8056617	3	1	78	1	0	0	0	0	1	0	0	0	5049	1000	35	4	917	4	ELAVL1	19	8056617	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	3807308	8056617	51072366	146	53825											
ZNF441	126068	broad.mit.edu	37	chr19	11891663	11891663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtatgaatgtaagtattgtGggaaagcattctctgattgc	11	5	1	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr19:11891663G>A	uc010dyj.2	+	4	1218	c.1024G>A	c.(1024-1026)GGG>AGG	p.G342R	ZNF441_uc002msn.3_Missense_Mutation_p.G298R	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	342	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TAAGTATTGTGGGAAAGCATT	0.403													A	11891663	G	A	11891663	3	1	78	1	0	0	0	0	1	0	0	0	17911	1348	47	4	1038	4	ZNF441	19	11891663	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	3835046	11891663	47237320	147	53826											
RTBDN	83546	broad.mit.edu	37	chr19	12940627	12940627	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggtctggggtgctcacctGccaggtgcagcttgcctttg	15	11	2	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr19:12940627G>T	uc002mvi.2	-	2	297	c.167C>A	c.(166-168)GCA>GAA	p.A56E	RTBDN_uc002mvh.1_Missense_Mutation_p.A88E|RTBDN_uc002mvj.2_Missense_Mutation_p.A88E	NM_001080997	NP_001074466	Q9BSG5	RTBDN_HUMAN	retbindin isoform 1	56						extracellular region					0						GTGCTCACCTGCCAGGTGCAG	0.587													T	12940627	G	T	12940627	3	4	78	1	0	0	0	0	1	0	0	0	13717	1319	46	5	542	5	RTBDN	19	12940627	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	1048964	12940627	46188356	148	53827											
FAM129C	199786	broad.mit.edu	37	chr19	17664149	17664149	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttaacttggtgtcaagttTcctggctgggagacaagctt	11	8	2	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr19:17664149T>C	uc010xpr.1	+	16	2009	c.1871T>C	c.(1870-1872)TTC>TCC	p.F624S	GLT25D1_uc002nhc.1_5'Flank	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	B-cell novel protein 1 isoform a	624											0						GTGTCAAGTTTCCTGGCTGGG	0.463													C	17664149	T	C	17664149	3	2	78	1	0	0	0	0	1	0	0	0	5438	1783	62	3	2050	3	FAM129C	19	17664149	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	4723522	17664149	41464834	149	53828											
ZNF486	90649	broad.mit.edu	37	chr19	20295165	20295165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgtgtgtgtgtttttcagGaatcattgcaatttagagat	11	3	2	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr19:20295165G>A	uc002nou.2	+	2	88	c.31G>A	c.(31-33)GAA>AAA	p.E11K		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	zinc finger protein 486	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGTTTTTCAGGAATCATTGCA	0.393													A	20295165	G	A	20295165	3	1	78	1	0	0	0	0	1	0	0	0	17936	1188	41	4	37	4	ZNF486	19	20295165	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	2631016	20295165	38833818	150	53829											
ZNF208	7757	broad.mit.edu	37	chr19	22157177	22157177	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctccagtatgagcactcTtataataagtaagggttgag	9	7	2	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr19:22157177T>C	uc002nqp.2	-	4	808	c.659A>G	c.(658-660)AAG>AGG	p.K220R	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATGAGCACTCTTATAATAAGT	0.358													C	22157177	T	C	22157177	3	2	78	1	0	0	0	0	1	0	0	0	17763	1609	56	3	3187	3	ZNF208	19	22157177	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	1862012	22157177	36971806	151	53830											
ZNF676	163223	broad.mit.edu	37	chr19	22362948	22362948	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctccagtatgaattatcTtatgttcagtaaggatcgag	8	7	3	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr19:22362948T>G	uc002nqs.1	-	3	1889	c.1571A>C	c.(1570-1572)AAG>ACG	p.K524T		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	524	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATGAATTATCTTATGTTCAGT	0.398													G	22362948	T	G	22362948	3	3	78	1	0	0	0	0	1	0	0	0	18080	1609	56	5	199	5	ZNF676	19	22362948	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	205771	22362948	36766035	152	53831											
CD22	933	broad.mit.edu	37	chr19	35832422	35832422	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agctgaattttgactccatcTccccagaagatgctgggagt	10	10	1	4			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr19:35832422T>A	uc010edt.2	+	8	1761	c.1684T>A	c.(1684-1686)TCC>ACC	p.S562T	CD22_uc010xst.1_Missense_Mutation_p.S390T|CD22_uc010edu.2_Missense_Mutation_p.S474T|CD22_uc010edv.2_Missense_Mutation_p.S562T|CD22_uc002nzb.3_Missense_Mutation_p.S385T|CD22_uc010edx.2_RNA	NM_001771	NP_001762	P20273	CD22_HUMAN	CD22 molecule precursor	562	Extracellular (Potential).|Ig-like C2-type 5.				cell adhesion		protein binding|sugar binding			ovary(5)|lung(3)|breast(1)	9	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TGACTCCATCTCCCCAGAAGA	0.522													A	35832422	T	A	35832422	3	1	78	1	0	0	0	0	1	0	0	0	2985	1551	54	5	1710	5	CD22	19	35832422	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	13469474	35832422	23296561	153	53832											
APLP1	333	broad.mit.edu	37	chr19	36369820	36369820	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctgttccaaggggtttccCtttccactcatcggagattc	9	12	2	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr19:36369820C>A	uc002oce.2	+	15	1814	c.1676C>A	c.(1675-1677)CCT>CAT	p.P559H	APLP1_uc010xsz.1_Missense_Mutation_p.P520H|APLP1_uc002ocf.2_Missense_Mutation_p.P560H|APLP1_uc002ocg.2_Missense_Mutation_p.P463H|APLP1_uc010xta.1_Missense_Mutation_p.P553H	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	559	Extracellular (Potential).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			ovary(2)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGGGTTTCCCTTTCCACTCA	0.587													A	36369820	C	A	36369820	3	1	78	1	0	0	0	0	1	0	0	0	778	681	24	5	1737	5	APLP1	19	36369820	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	537398	36369820	22759163	154	53833											
TYROBP	7305	broad.mit.edu	37	chr19	36398163	36398163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatacgctgtttccgggtcGctgctggaggtgaggggtgt	18	7	0	2	rs150310136		TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr19:36398163G>A	uc002ocm.2	-	4	289	c.233C>T	c.(232-234)GCG>GTG	p.A78V	TYROBP_uc002ocn.2_Missense_Mutation_p.A77V	NM_003332	NP_003323	O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	78	Cytoplasmic (Potential).				axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity				0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTTCCGGGTCGCTGCTGGAGG	0.537													A	36398163	G	A	36398163	3	1	78	1	0	0	0	0	1	0	0	0	16812	1101	38	1	116	1	TYROBP	19	36398163	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	28343	36398163	22730820	155	53834											
ZNF566	84924	broad.mit.edu	37	chr19	36940481	36940481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttgccagtatgaatttTctgatgatgagtgagtcttg	10	5	3	5			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr19:36940481T>C	uc002oea.3	-	5	737	c.655A>G	c.(655-657)AAA>GAA	p.K219E	ZNF566_uc010xte.1_Missense_Mutation_p.K219E|ZNF566_uc010xtf.1_Missense_Mutation_p.K220E|ZNF566_uc002oeb.3_Missense_Mutation_p.K219E|ZNF566_uc002oec.3_Missense_Mutation_p.K115E|ZNF566_uc010xtg.1_Missense_Mutation_p.K115E	NM_032838	NP_116227	Q969W8	ZN566_HUMAN	zinc finger protein 566 isoform 1	219	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)					GTATGAATTTTCTGATGATGA	0.388													C	36940481	T	C	36940481	3	2	78	1	0	0	0	0	1	0	0	0	17994	1792	62	3	605	3	ZNF566	19	36940481	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	542318	36940481	22188502	156	53835											
SNRPA	6626	broad.mit.edu	37	chr19	41263270	41263270	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtacgccatcttctcccAgtttggccagatcctggata	8	14	2	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr19:41263270A>G	uc002ooz.2	+	2	642	c.107A>G	c.(106-108)CAG>CGG	p.Q36R	SNRPA_uc002opa.2_5'UTR	NM_004596	NP_004587	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	36	RRM 1.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			skin(2)|ovary(1)|central_nervous_system(1)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ATCTTCTCCCAGTTTGGCCAG	0.527													G	41263270	A	G	41263270	3	3	78	1	0	0	0	0	1	0	0	0	14859	188	7	3	113	3	SNRPA	19	41263270	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	4322789	41263270	17865713	157	53836											
PSG6	5675	broad.mit.edu	37	chr19	43528974	43528974	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggatgcattggaatatactGtttctcgtccactgtatgcc	10	9	1	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr19:43528974G>T	uc002ovh.1	-	2	406	c.317C>A	c.(316-318)ACA>AAA	p.T106K	PSG11_uc002ouw.2_Missense_Mutation_p.T106K|PSG10_uc002ouv.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.T106K|PSG11_uc002ovm.1_Missense_Mutation_p.T100K|PSG11_uc002ovn.1_Missense_Mutation_p.T106K|PSG11_uc002ovo.1_Intron|PSG11_uc002ovp.1_Intron			Q00889	PSG6_HUMAN	SubName: Full=Putative uncharacterized protein PSG6;	99	Ig-like V-type.				female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)				GGAATATACTGTTTCTCGTCC	0.453													T	43528974	G	T	43528974	3	4	78	1	0	0	0	0	1	0	0	0	12659	1377	48	5		5	PSG6	19	43528974	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	2265704	43528974	15600009	158	53837											
SLC6A16	28968	broad.mit.edu	37	chr19	49813671	49813671	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatcttccatacacccatgCcaccctgacgcatgctctga	6	16	2	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr19:49813671C>A	uc002pmz.2	-	3	746	c.512G>T	c.(511-513)GGC>GTC	p.G171V	SLC6A16_uc002pna.2_Missense_Mutation_p.G171V|hsa-mir-4324|MI0015854_5'Flank	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	171						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			skin(2)|ovary(1)|kidney(1)	4		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TACACCCATGCCACCCTGACG	0.557													A	49813671	C	A	49813671	3	1	78	1	0	0	0	0	1	0	0	0	14679	739	26	5	1738	5	SLC6A16	19	49813671	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	6284697	49813671	9315312	159	53838											
KCNC3	3748	broad.mit.edu	37	chr19	50826555	50826555	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttgggcagcttctgcTtggccatggccagcgaatag	12	11	3	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr19:50826555T>G	uc002pru.1	-	2	1950	c.1655A>C	c.(1654-1656)AAG>ACG	p.K552T	KCNC3_uc002prt.1_Missense_Mutation_p.K188T	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Shaw-related voltage-gated potassium channel	552	Cytoplasmic (Potential).				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CAGCTTCTGCTTGGCCATGGC	0.647													G	50826555	T	G	50826555	3	3	78	1	0	0	0	0	1	0	0	0	8016	1609	56	5	630	5	KCNC3	19	50826555	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	1012884	50826555	8302428	160	53839											
ZNF331	55422	broad.mit.edu	37	chr19	54080139	54080139	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgatcatcaattatgtcAaaagacctgctactagagaa	7	7	3	4			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr19:54080139A>G	uc002qbx.1	+	7	1759	c.325A>G	c.(325-327)AAA>GAA	p.K109E	ZNF331_uc002qby.1_Missense_Mutation_p.K109E|ZNF331_uc002qbz.1_Missense_Mutation_p.K109E|ZNF331_uc002qca.1_Missense_Mutation_p.K109E|ZNF331_uc010eqr.1_Missense_Mutation_p.K109E|ZNF331_uc002qcb.1_Missense_Mutation_p.K109E|ZNF331_uc002qcc.1_Missense_Mutation_p.K109E|ZNF331_uc002qcd.1_Missense_Mutation_p.K109E	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6				GBM - Glioblastoma multiforme(134;0.00555)		CAATTATGTCAAAAGACCTGC	0.453			T	?	follicular thyroid adenoma								G	54080139	A	G	54080139	3	3	78	1	0	0	0	0	1	0	0	0	17846	131	5	3	335	3	ZNF331	19	54080139	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	3253584	54080139	5048844	161	53840											
LENG9	94059	broad.mit.edu	37	chr19	54973460	54973461	+	Frame_Shift_Del	DEL	TG	TG	-													ggtgcagctgccctggagacTgtagtgtactcagcccctcg							TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr19:54973459_54973460CTG>C	uc010yez.2	-	0	1435_1436	c.1316_1317CAG>G	c.(1315-1317)cagfs	p.Q439fs		NM_198988	NP_945339	Q96B70	LENG9_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 9 (LENG9), mRNA.	439					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GCCCTGGAGACTGTAGTGTACT	0.644													-	54973461	TG	-	54973460	7	5	78	1	0	1	0	1	0	0	0	0	8725	1580	55	0	193	0	LENG9	19	54973460	Frame_Shift_Del	DEL	TG	TCGA-BR-8366-01A-11D-2340-08	893321	54973460	4155523	162	53841											
KIR3DL1	3811	broad.mit.edu	37	chr19	55331283	55331283	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcacttctttctgcacaaAgaggggatctctaaggaccc	10	11	3	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr19:55331283A>C	uc002qhk.3	+	4	534	c.471A>C	c.(469-471)AAA>AAC	p.K157N	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.K99N|KIR3DL1_uc010esf.2_Missense_Mutation_p.K62N|KIR3DL1_uc010yfo.1_Missense_Mutation_p.K99N|KIR3DL1_uc002qhl.3_Missense_Mutation_p.K157N	NM_013289	NP_037421	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three	157	Extracellular (Potential).|Ig-like C2-type 2.				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5				GBM - Glioblastoma multiforme(193;0.0192)		TTCTGCACAAAGAGGGGATCT	0.537													C	55331283	A	C	55331283	3	2	78	1	0	0	0	0	1	0	0	0	8320	69	3	5	485	5	KIR3DL1	19	55331283	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	357823	55331283	3797700	163	53842											
PTPRH	5794	broad.mit.edu	37	chr19	55708037	55708037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatctgtcctgggagccccGctgtcctcccacctccaact	8	18	1	1	rs73619559	byFrequency	TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr19:55708037G>A	uc002qjq.2	-	10	2183	c.2110C>T	c.(2110-2112)CGG>TGG	p.R704W	PTPRH_uc010esv.2_Missense_Mutation_p.R526W|PTPRH_uc002qjs.2_Missense_Mutation_p.R711W	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	704	Extracellular (Potential).|Fibronectin type-III 8.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGGGAGCCCCGCTGTCCTCCC	0.627													A	55708037	G	A	55708037	3	1	78	1	0	0	0	0	1	0	0	0	12803	1086	38	1	1281	1	PTPRH	19	55708037	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	376754	55708037	3420946	164	53843											
ZNF551	90233	broad.mit.edu	37	chr19	58198809	58198809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagttcactctggagaaaGgccttatcagtgctgtgagt	13	7	3	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr19:58198809G>A	uc002qpw.3	+	3	1341	c.1118G>A	c.(1117-1119)AGG>AAG	p.R373K	ZNF551_uc002qpv.3_Missense_Mutation_p.R316K|ZNF776_uc002qpx.2_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	zinc finger protein 551	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCTGGAGAAAGGCCTTATCAG	0.448													A	58198809	G	A	58198809	3	1	78	1	0	0	0	0	1	0	0	0	17980	1000	35	4	1128	4	ZNF551	19	58198809	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	2490772	58198809	930174	165	53844											
ERGIC3	51614	broad.mit.edu	37	chr20	34136347	34136347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatactattgagcagtgcCggcgagagggcttcagccag	14	10	1	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr20:34136347C>T	uc002xct.2	+	6	616	c.547C>T	c.(547-549)CGG>TGG	p.R183W	ERGIC3_uc002xcr.1_Missense_Mutation_p.R183W|ERGIC3_uc010zvg.1_Missense_Mutation_p.R183W|ERGIC3_uc002xcs.2_Missense_Mutation_p.R183W|ERGIC3_uc002xcu.2_Missense_Mutation_p.R183W|ERGIC3_uc002xcv.2_Missense_Mutation_p.R146W	NM_015966	NP_057050	Q9Y282	ERGI3_HUMAN	serologically defined breast cancer antigen 84	183	Lumenal (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			large_intestine(2)|ovary(1)	3	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TGAGCAGTGCCGGCGAGAGGG	0.542													T	34136347	C	T	34136347	3	4	78	1	0	0	0	0	1	0	0	0	5225	643	23	1	569	1	ERGIC3	20	34136347	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08		34136347	28889173	166	53845											
ZNF831	128611	broad.mit.edu	37	chr20	57829765	57829765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttcagtgacaccagcagCgacgatgaagaccgattagt	12	9	1	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr20:57829765C>T	uc002yan.2	+	5	5001	c.5001C>T	c.(4999-5001)AGC>AGT	p.S1667S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1667						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					ACACCAGCAGCGACGATGAAG	0.438													T	57829765	C	T	57829765	2	4	78	1	0	0	0	0	0	0	0	1	18182	767	27	1		1	ZNF831	20	57829765	Silent	SNP	C	TCGA-BR-8366-01A-11D-2340-08	23693418	57829765	5195755	167	53846											
ABCG1	9619	broad.mit.edu	37	chr21	43714709	43714709	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcctgttctcggggttcTtcgtcagcttcgacaccatc	9	14	3	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr21:43714709T>G	uc002zaq.2	+	14	1853	c.1747T>G	c.(1747-1749)TTC>GTC	p.F583V	ABCG1_uc002zan.2_Missense_Mutation_p.F573V|ABCG1_uc002zam.2_Missense_Mutation_p.F549V|ABCG1_uc002zao.2_Missense_Mutation_p.F568V|ABCG1_uc002zap.2_Missense_Mutation_p.F571V|ABCG1_uc002zar.2_Missense_Mutation_p.F582V|ABCG1_uc011aev.1_Missense_Mutation_p.F594V|ABCG1_uc010gpb.1_Missense_Mutation_p.L223R	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	583	ABC transmembrane type-2.|Helical; (Potential).				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			ovary(2)|central_nervous_system(1)	3					Adenosine triphosphate(DB00171)	CTCGGGGTTCTTCGTCAGCTT	0.617													G	43714709	T	G	43714709	3	3	78	1	0	0	0	0	1	0	0	0	68	1609	56	5	1969	5	ABCG1	21	43714709	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08		43714709	4415186	168	53847											
ZNF280B	140883	broad.mit.edu	37	chr22	22842771	22842771	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgattcataaacttaacaTtttttagaactttcacgcag	5	8	2	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr22:22842771T>G	uc002zwc.1	-	4	1729	c.953A>C	c.(952-954)AAT>ACT	p.N318T	LOC96610_uc011aim.1_Intron	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AAACTTAACATTTTTTAGAAC	0.463													G	22842771	T	G	22842771	3	3	78	1	0	0	0	0	1	0	0	0	17812	1493	52	5	682	5	ZNF280B	22	22842771	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08		22842771	28461795	169	53848											
SEZ6L	23544	broad.mit.edu	37	chr22	26692998	26692998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccatctccgtctacttcCggaccttccaggacgacggc	8	17	2	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr22:26692998C>T	uc003acb.2	+	4	1270	c.1114C>T	c.(1114-1116)CGG>TGG	p.R372W	SEZ6L_uc003acc.2_Missense_Mutation_p.R372W|SEZ6L_uc011akc.1_Missense_Mutation_p.R372W|SEZ6L_uc003acd.2_Missense_Mutation_p.R372W|SEZ6L_uc011akd.1_Missense_Mutation_p.R372W|SEZ6L_uc003ace.2_Missense_Mutation_p.R372W|SEZ6L_uc003acf.1_Missense_Mutation_p.R145W|SEZ6L_uc010gvc.1_Missense_Mutation_p.R145W	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	372	CUB 1.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						CGTCTACTTCCGGACCTTCCA	0.612													T	26692998	C	T	26692998	3	4	78	1	0	0	0	0	1	0	0	0	14143	643	23	1	1128	1	SEZ6L	22	26692998	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	3850227	26692998	24611568	170	53849											
NEFH	4744	broad.mit.edu	37	chr22	29884869	29884869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtgaagagtgtcggattGgctttggcccaattcctttc	12	8	0	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr22:29884869G>A	uc003afo.2	+	4	1311	c.1240G>A	c.(1240-1242)GGC>AGC	p.G414S	NEFH_uc003afp.2_5'Flank	NM_021076	NP_066554	P12036	NFH_HUMAN	neurofilament, heavy polypeptide 200kDa	414	Tail.				cell death|nervous system development	neurofilament					0						GTGTCGGATTGGCTTTGGCCC	0.408													A	29884869	G	A	29884869	3	1	78	1	0	0	0	0	1	0	0	0	10314	1348	47	4	1254	4	NEFH	22	29884869	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	3191871	29884869	21419697	171	53850											
MTMR3	8897	broad.mit.edu	37	chr22	30421750	30421750	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccacaagctccagcattgAccttgaactggataagccca	7	14	0	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chr22:30421750A>G	uc003agv.3	+	20	3885	c.3557A>G	c.(3556-3558)GAC>GGC	p.D1186G	MTMR3_uc003agu.3_Missense_Mutation_p.D1158G|MTMR3_uc003agw.3_Missense_Mutation_p.D1149G	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	1186					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCCAGCATTGACCTTGAACTG	0.532													G	30421750	A	G	30421750	3	3	78	1	0	0	0	0	1	0	0	0	9945	275	10	3	3658	3	MTMR3	22	30421750	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	536881	30421750	20882816	172	53851											
TAB3	257397	broad.mit.edu	37	chrX	30852177	30852177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtacaaaccatctgcagCtgctgcctgggtgtcatgga	11	11	2	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chrX:30852177C>T	uc004dcj.2	-	10	2644	c.1981G>A	c.(1981-1983)GCT>ACT	p.A661T	TAB3_uc004dck.2_Missense_Mutation_p.A661T|TAB3_uc010ngl.2_Missense_Mutation_p.A633T	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	661	Poly-Ala.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			ovary(1)	1						CCATCTGCAGCTGCTGCCTGG	0.433													T	30852177	C	T	30852177	3	4	78	1	0	0	0	0	1	0	0	0	15494	797	28	2	165	2	TAB3	23	30852177	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08		30852177	124418383	173	53852											
BCOR	54880	broad.mit.edu	37	chrX	39916463	39916463	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatattcaaggaggtgtcGcacaatgttgagccagcccc	11	12	1	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chrX:39916463G>A	uc004den.3	-	11	4832	c.4540C>T	c.(4540-4542)CGA>TGA	p.R1514*	BCOR_uc004dep.3_Nonsense_Mutation_p.R1480*|BCOR_uc004deo.3_Nonsense_Mutation_p.R1462*|BCOR_uc010nhb.2_Nonsense_Mutation_p.R222*|BCOR_uc004dem.3_Nonsense_Mutation_p.R1480*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	1514	ANK 2.				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						AGGAGGTGTCGCACAATGTTG	0.512													A	39916463	G	A	39916463	4	1	78	1	0	0	0	0	0	1	0	0	1386	1095	38	1	747	1	BCOR	23	39916463	Nonsense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	9064286	39916463	115354097	174	53853											
MED14	9282	broad.mit.edu	37	chrX	40513617	40513617	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctactggtcatgtaccTtgtcgtggtggattcatctc	10	9	4	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chrX:40513617T>G	uc004dex.3	-	30	4430	c.4290A>C	c.(4288-4290)CAA>CAC	p.Q1430H	MED14_uc004dey.1_Missense_Mutation_p.Q332H	NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	1430					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4						GTCATGTACCTTGTCGTGGTG	0.438													G	40513617	T	G	40513617	3	3	78	1	0	0	0	0	1	0	0	0	9432	1623	56	5	82	5	MED14	23	40513617	Missense_Mutation	SNP	T	TCGA-BR-8366-01A-11D-2340-08	597154	40513617	114756943	175	53854											
USP9X	8239	broad.mit.edu	37	chrX	41027344	41027344	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgttttggatggtgacAaagacagtgttaattgtgca	13	3	0	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chrX:41027344A>G	uc004dfb.2	+	18	3142	c.2509A>G	c.(2509-2511)AAA>GAA	p.K837E	USP9X_uc004dfc.2_Missense_Mutation_p.K837E	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	837					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						GGATGGTGACAAAGACAGTGT	0.383													G	41027344	A	G	41027344	3	3	78	1	0	0	0	0	1	0	0	0	17087	131	5	3	2575	3	USP9X	23	41027344	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	513727	41027344	114243216	176	53855											
ITIH5L	347365	broad.mit.edu	37	chrX	54814956	54814956	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaccacatcgtactgaAccaggaagtcagccatgatg	9	12	1	3			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chrX:54814956A>C	uc004dtj.2	-	5	773	c.743T>G	c.(742-744)GTT>GGT	p.V248G		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	248					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						ATCGTACTGAACCAGGAAGTC	0.577													C	54814956	A	C	54814956	3	2	78	1	0	0	0	0	1	0	0	0	7908	43	2	5	3234	5	ITIH5L	23	54814956	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	13787612	54814956	100455604	177	53856											
ATRX	546	broad.mit.edu	37	chrX	76918944	76918944	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttcttctccagattctccGtcactcacagtcaatttgtg	5	12	6	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chrX:76918944G>T	uc004ecp.3	-	12	4279	c.4047C>A	c.(4045-4047)GAC>GAA	p.D1349E	ATRX_uc004ecq.3_Missense_Mutation_p.D1311E|ATRX_uc004eco.3_Missense_Mutation_p.D1134E|ATRX_uc004ecr.2_Missense_Mutation_p.D1281E	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1349					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	CAGATTCTCCGTCACTCACAG	0.358			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76918944	G	T	76918944	3	4	78	1	0	0	0	0	1	0	0	0	1208	1136	40	5	3527	5	ATRX	23	76918944	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	22103988	76918944	78351616	178	53857											
CYLC1	1538	broad.mit.edu	37	chrX	83128752	83128752	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actcaaaggatgaaaggaaaGatacaaagaaggataagaaa	10	3	1	4			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chrX:83128752G>T	uc004eei.1	+	4	1057	c.1036G>T	c.(1036-1038)GAT>TAT	p.D346Y	CYLC1_uc004eeh.1_Missense_Mutation_p.D345Y	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	346	3.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						tgaaaggaaagatacaaagaa	0.249													T	83128752	G	T	83128752	3	4	78	1	0	0	0	0	1	0	0	0	4141	942	33	5	1050	5	CYLC1	23	83128752	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	6209808	83128752	72141808	179	53858											
RPA4	29935	broad.mit.edu	37	chrX	96139827	96139827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctggataaagcccgtcGtgataccactgtagaaagtg	12	8	0	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chrX:96139827G>A	uc004efv.3	+	1	816	c.518G>A	c.(517-519)CGT>CAT	p.R173H	DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	replication protein A4, 34kDa	173					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding				0						AAAGCCCGTCGTGATACCACT	0.468								Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	96139827	G	A	96139827	3	1	78	1	0	0	0	0	1	0	0	0	13539	1145	40	1	520	1	RPA4	23	96139827	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	13011075	96139827	59130733	180	53859											
ZMAT1	84460	broad.mit.edu	37	chrX	101138752	101138752	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctctttctctggcctttcTttgccttcttctaggtgtcg	8	12	5	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chrX:101138752T>C	uc004eim.2	-	2	4632	c.1134A>G	c.(1132-1134)AAA>AAG	p.K378K	ZMAT1_uc011mrl.1_Silent_p.K549K|ZMAT1_uc004ein.2_Silent_p.K378K|ZMAT1_uc011mrm.1_Silent_p.K378K	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 3	378						nucleus	zinc ion binding			ovary(1)	1						CTGGCCTTTCTTTGCCTTCTT	0.393													C	101138752	T	C	101138752	2	2	78	1	0	0	0	0	0	0	0	1	17688	1606	56	3		3	ZMAT1	23	101138752	Silent	SNP	T	TCGA-BR-8366-01A-11D-2340-08	4998925	101138752	54131808	181	53860											
GLRA4	441509	broad.mit.edu	37	chrX	102978850	102978850	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttgaggtccatcaggcaggAcaaaatgagggtcagcctag	13	9	2	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chrX:102978850A>T	uc011mse.1	-	5	932	c.511T>A	c.(511-513)TCC>ACC	p.S171T	GLRA4_uc010nou.2_Missense_Mutation_p.S171T	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4 precursor	171	Extracellular (Potential).					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity				0						ATCAGGCAGGACAAAATGAGG	0.483													T	102978850	A	T	102978850	3	4	78	1	0	0	0	0	1	0	0	0	6457	275	10	5	857	5	GLRA4	23	102978850	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	1840098	102978850	52291710	182	53861											
AIFM1	9131	broad.mit.edu	37	chrX	129267364	129267364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcttccactcacaacagCgtgatcatggtgctctaccc	6	15	4	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chrX:129267364C>T	uc004evg.2	-	13	1550	c.1372G>A	c.(1372-1374)GCT>ACT	p.A458T	AIFM1_uc011mur.1_Missense_Mutation_p.A106T|AIFM1_uc011mus.1_3'UTR|AIFM1_uc004evh.2_Missense_Mutation_p.A454T|AIFM1_uc004evi.2_Missense_Mutation_p.A171T|AIFM1_uc004evk.2_RNA	NM_004208	NP_004199	O95831	AIFM1_HUMAN	programmed cell death 8 isoform 1	458	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			ovary(4)|central_nervous_system(1)	5						CTCACAACAGCGTGATCATGG	0.468													T	129267364	C	T	129267364	3	4	78	1	0	0	0	0	1	0	0	0	426	768	27	1	485	1	AIFM1	23	129267364	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	26288514	129267364	26003196	183	53862											
SAGE1	55511	broad.mit.edu	37	chrX	134987488	134987488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacaaagtcttgtcaactGctccaccacagcttgttcat	6	13	3	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chrX:134987488G>A	uc004ezh.2	+	5	558	c.391G>A	c.(391-393)GCT>ACT	p.A131T	SAGE1_uc010nry.1_Missense_Mutation_p.A100T|SAGE1_uc011mvv.1_Missense_Mutation_p.A131T	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	131										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					CTTGTCAACTGCTCCACCACA	0.458													A	134987488	G	A	134987488	3	1	78	1	0	0	0	0	1	0	0	0	13809	1319	46	2	405	2	SAGE1	23	134987488	Missense_Mutation	SNP	G	TCGA-BR-8366-01A-11D-2340-08	5720124	134987488	20283072	184	53863											
SAGE1	55511	broad.mit.edu	37	chrX	134991106	134991106	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtcatatcaaatgatgcaCcacagcttggtcatatggct	9	9	3	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chrX:134991106C>A	uc004ezh.2	+	13	1692	c.1525C>A	c.(1525-1527)CCA>ACA	p.P509T	SAGE1_uc010nry.1_Missense_Mutation_p.P478T|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	509										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					AAATGATGCACCACAGCTTGG	0.423													A	134991106	C	A	134991106	3	1	78	1	0	0	0	0	1	0	0	0	13809	507	18	5	1571	5	SAGE1	23	134991106	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	3618	134991106	20279454	185	53864											
MAMLD1	10046	broad.mit.edu	37	chrX	149639020	149639020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccttactgtcaagcatgaCgtccagcagcaatgctgccc	9	14	1	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chrX:149639020C>T	uc004fee.1	+	3	1251	c.1175C>T	c.(1174-1176)ACG>ATG	p.T392M	MAMLD1_uc011mxt.1_Missense_Mutation_p.T354M|MAMLD1_uc011mxu.1_Missense_Mutation_p.T367M|MAMLD1_uc011mxv.1_Missense_Mutation_p.T367M|MAMLD1_uc011mxw.1_Missense_Mutation_p.T319M	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	392					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAGCATGACGTCCAGCAGC	0.602													T	149639020	C	T	149639020	3	4	78	1	0	0	0	0	1	0	0	0	9208	536	19	1	1185	1	MAMLD1	23	149639020	Missense_Mutation	SNP	C	TCGA-BR-8366-01A-11D-2340-08	14647914	149639020	5631540	186	53865											
GABRA3	2556	broad.mit.edu	37	chrX	151424324	151424324	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcatgttatgagccacTgatttcttgccattgtggaa	11	7	2	2			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chrX:151424324T>C	uc010ntk.1	-	5	717	c.477A>G	c.(475-477)TCA>TCG	p.S159S		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	159	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TATGAGCCACTGATTTCTTGC	0.498													C	151424324	T	C	151424324	2	2	78	1	0	0	0	0	0	0	0	1	6162	1567	55	3		3	GABRA3	23	151424324	Silent	SNP	T	TCGA-BR-8366-01A-11D-2340-08	1785304	151424324	3846236	187	53866											
PLXNB3	5365	broad.mit.edu	37	chrX	153040751	153040751	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtggcttcgctgctgtcGctagcgctacacggcaagct	12	13	0	0			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chrX:153040751G>A	uc004fii.2	+	25	4401	c.4227G>A	c.(4225-4227)TCG>TCA	p.S1409S	PLXNB3_uc010nuk.2_Silent_p.S1432S|PLXNB3_uc011mzd.1_Silent_p.S1048S|PLXNB3_uc004fij.1_Intron|SRPK3_uc004fik.2_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1409	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTGCTGTCGCTAGCGCTAC	0.627													A	153040751	G	A	153040751	2	1	78	1	0	0	0	0	0	0	0	1	12125	1074	38	1		1	PLXNB3	23	153040751	Silent	SNP	G	TCGA-BR-8366-01A-11D-2340-08	1616427	153040751	2229809	188	53867											
F8	2157	broad.mit.edu	37	chrX	154225316	154225316	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgggaagccatgttcttaAgtgtaatgaccactgtatca	10	7	2	1			TCGA-BR-8366-01A-11D-2340-08	TCGA-BR-8366-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1abcee1-9890-44fc-b2b3-e506b7a7328b	5f6c1c99-0981-4fbf-93b5-8ad581ab25b6	g.chrX:154225316A>C	uc004fmt.2	-	3	491	c.320T>G	c.(319-321)CTT>CGT	p.L107R	F8_uc011mzx.1_Missense_Mutation_p.L72R	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	107	Plastocyanin-like 1.|F5/8 type A 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CATGTTCTTAAGTGTAATGAC	0.458													C	154225316	A	C	154225316	3	2	78	1	0	0	0	0	1	0	0	0	5350	72	3	5	6859	5	F8	23	154225316	Missense_Mutation	SNP	A	TCGA-BR-8366-01A-11D-2340-08	1184565	154225316	1045244	189	53868											
E2F2	1870	broad.mit.edu	37	chr1	23845525	23845525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctcagtcctgtcgggcaCttccagtctcgtctgcggag	11	15	3	0			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr1:23845525C>T	uc001bhe.1	-	5	1263	c.835G>A	c.(835-837)GTG>ATG	p.V279M		NM_004091	NP_004082	Q14209	E2F2_HUMAN	E2F transcription factor 2	279	Dimerization (Potential).				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|skin(2)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTGTCGGGCACTTCCAGTCTC	0.577													T	23845525	C	T	23845525	3	4	79	1	0	0	0	0	1	0	0	0	4867	565	20	4	490	4	E2F2	1	23845525	Missense_Mutation	SNP	C	TCGA-BR-8367-01A-11D-2340-08		23845525	225405096	1	53869											
MRPS15	64960	broad.mit.edu	37	chr1	36921446	36921446	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gcagggctgtctgggttcctCcgctttgcttgtttttgggc	14	10	1	0			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr1:36921446C>G	uc001cas.2	-	8	881	c.717G>C	c.(715-717)CGG>CGC	p.R239R		NM_031280	NP_112570	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15 precursor	239					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGGGTTCCTCCGCTTTGCTT	0.468													G	36921446	C	G	36921446	2	3	79	1	0	0	0	0	0	0	0	1	9825	842	30	5		5	MRPS15	1	36921446	Silent	SNP	C	TCGA-BR-8367-01A-11D-2340-08	13075921	36921446	212329175	2	53870											
SLC6A17	388662	broad.mit.edu	37	chr1	110734707	110734707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagctacaataagcaggaCaacaactgccacttcgatgc	7	13	0	0			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr1:110734707C>T	uc009wfq.2	+	7	1439	c.978C>T	c.(976-978)GAC>GAT	p.D326D	SLC6A17_uc001dze.1_5'Flank	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	326	Cytoplasmic (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ATAAGCAGGACAACAACTGCC	0.577													T	110734707	C	T	110734707	2	4	79	1	0	0	0	0	0	0	0	1	14680	477	17	4		4	SLC6A17	1	110734707	Silent	SNP	C	TCGA-BR-8367-01A-11D-2340-08	73813261	110734707	138515914	3	53871											
SLC6A17	388662	broad.mit.edu	37	chr1	110741056	110741056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctggccagcacccctgagtCggagctgtgaccactgccca	12	16	0	2			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr1:110741056C>T	uc009wfq.2	+	12	2635	c.2174C>T	c.(2173-2175)TCG>TTG	p.S725L		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	725	Cytoplasmic (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ACCCCTGAGTCGGAGCTGTGA	0.667													T	110741056	C	T	110741056	3	4	79	1	0	0	0	0	1	0	0	0	14680	893	31	1	2216	1	SLC6A17	1	110741056	Missense_Mutation	SNP	C	TCGA-BR-8367-01A-11D-2340-08	6349	110741056	138509565	4	53872											
POGZ	23126	broad.mit.edu	37	chr1	151378545	151378545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgttcagctgcctgttctGtattgcagcatagagcaaac	10	9	2	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr1:151378545G>A	uc001eyd.1	-	19	3272	c.2966C>T	c.(2965-2967)ACA>ATA	p.T989I	POGZ_uc001eye.1_Missense_Mutation_p.T936I|POGZ_uc010pdb.1_Missense_Mutation_p.T980I|POGZ_uc001eyf.1_Missense_Mutation_p.T945I|POGZ_uc010pdc.1_Missense_Mutation_p.T927I|POGZ_uc009wmv.1_Missense_Mutation_p.T894I|POGZ_uc010pdd.1_Missense_Mutation_p.T480I	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	989					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCCTGTTCTGTATTGCAGCA	0.522													A	151378545	G	A	151378545	3	1	79	1	0	0	0	0	1	0	0	0	12186	1377	48	4	1270	4	POGZ	1	151378545	Missense_Mutation	SNP	G	TCGA-BR-8367-01A-11D-2340-08	40637489	151378545	97872076	5	53873											
FLG	2312	broad.mit.edu	37	chr1	152281969	152281969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgagtgcctggagctgtctCgtgcctgctcgtggcgggat	16	11	1	1	rs141235242		TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr1:152281969C>T	uc001ezu.1	-	3	5429	c.5393G>A	c.(5392-5394)CGA>CAA	p.R1798Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1798	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCTGTCTCGTGCCTGCTC	0.597									Ichthyosis				T	152281969	C	T	152281969	3	4	79	1	0	0	0	0	1	0	0	0	5922	884	31	1	6796	1	FLG	1	152281969	Missense_Mutation	SNP	C	TCGA-BR-8367-01A-11D-2340-08	903424	152281969	96968652	6	53874											
INSRR	3645	broad.mit.edu	37	chr1	156823679	156823679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcccagcttgttgcccaCgatgtggttggcgccaggtg	14	13	0	0			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr1:156823679C>T	uc010pht.1	-	2	756	c.502G>A	c.(502-504)GTG>ATG	p.V168M	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.V168M	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	168					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTGTTGCCCACGATGTGGTTG	0.642													T	156823679	C	T	156823679	3	4	79	1	0	0	0	0	1	0	0	0	7774	536	19	1	3474	1	INSRR	1	156823679	Missense_Mutation	SNP	C	TCGA-BR-8367-01A-11D-2340-08	4541710	156823679	92426942	7	53875											
CACNA1E	777	broad.mit.edu	37	chr1	181724429	181724429	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcttcaacatactcattgtGtacaagctcttcatgttcat	5	10	6	0			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr1:181724429G>C	uc001gow.2	+	28	4050	c.3885G>C	c.(3883-3885)GTG>GTC	p.V1295V	CACNA1E_uc009wxs.2_Silent_p.V1183V|CACNA1E_uc001gox.1_Silent_p.V521V|CACNA1E_uc009wxt.2_Silent_p.V521V	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1295	III.|Helical; Name=S5 of repeat III.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TACTCATTGTGTACAAGCTCT	0.478													C	181724429	G	C	181724429	2	2	79	1	0	0	0	0	0	0	0	1	2542	1364	48	5		5	CACNA1E	1	181724429	Silent	SNP	G	TCGA-BR-8367-01A-11D-2340-08	24900750	181724429	67526192	8	53876											
HMCN1	83872	broad.mit.edu	37	chr1	185958651	185958651	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatttcaaccagcagtgctaAgttttcagcaggagctgatg	11	8	2	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr1:185958651A>C	uc001grq.1	+	21	3309	c.3080A>C	c.(3079-3081)AAG>ACG	p.K1027T	HMCN1_uc001grr.1_Missense_Mutation_p.K368T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1027	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AGCAGTGCTAAGTTTTCAGCA	0.463													C	185958651	A	C	185958651	3	2	79	1	0	0	0	0	1	0	0	0	7220	72	3	5	3162	5	HMCN1	1	185958651	Missense_Mutation	SNP	A	TCGA-BR-8367-01A-11D-2340-08	4234222	185958651	63291970	9	53877											
LRRN2	10446	broad.mit.edu	37	chr1	204587730	204587730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcatgggcaggtgtcagtCgaagcccagctggagtgacc	15	11	1	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr1:204587730C>T	uc001hbe.1	-	3	1779	c.1391G>A	c.(1390-1392)CGA>CAA	p.R464Q	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.R464Q|LRRN2_uc009xbf.1_Missense_Mutation_p.R464Q|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	464	Ig-like C2-type.|Extracellular (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGGTGTCAGTCGAAGCCCAGC	0.637													T	204587730	C	T	204587730	3	4	79	1	0	0	0	0	1	0	0	0	9035	884	31	1	754	1	LRRN2	1	204587730	Missense_Mutation	SNP	C	TCGA-BR-8367-01A-11D-2340-08	18629079	204587730	44662891	10	53878											
TRIM58	25893	broad.mit.edu	37	chr1	248039564	248039564	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaaagtcctcgctgcattGggattttcttggactatgaa	11	7	1	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr1:248039564G>T	uc001ido.2	+	6	1282	c.1234G>T	c.(1234-1236)GGG>TGG	p.G412W	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	412	B30.2/SPRY.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCGCTGCATTGGGATTTTCTT	0.478													T	248039564	G	T	248039564	3	4	79	1	0	0	0	0	1	0	0	0	16528	1348	47	5	1256	5	TRIM58	1	248039564	Missense_Mutation	SNP	G	TCGA-BR-8367-01A-11D-2340-08	43451834	248039564	1211057	11	53879											
ZFP36L2	678	broad.mit.edu	37	chr2	43452465	43452466	+	Frame_Shift_Ins	INS	-	-	G													ccgctctcctcgaagggccgINSgcacagctcggtcttgtagc							TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr2:43452464_43452465C>CG	uc002rsv.4	-	1	769_770	c.478_479G>CG	c.(478-480)cggfs	p.R160fs	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 2 (ZFP36L2), mRNA.	160					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTCGAAGGGCCGGCACAGCTCG	0.649													G	43452466	-	G	43452465	7	5	79	1	0	1	1	0	0	0	0	0	17644	1115	39	0	1010	0	ZFP36L2	2	43452465	Frame_Shift_Ins	INS	-	TCGA-BR-8367-01A-11D-2340-08		43452465	199746908	12	53880											
CNTNAP5	129684	broad.mit.edu	37	chr2	125204448	125204448	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagcaggtgaacttcacGgtggacaagcacacacagca	12	11	1	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr2:125204448G>A	uc002tno.2	+	6	1216	c.852G>A	c.(850-852)ACG>ACA	p.T284T	CNTNAP5_uc010flu.2_Silent_p.T284T	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	284	Laminin G-like 1.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGAACTTCACGGTGGACAAGC	0.602													A	125204448	G	A	125204448	2	1	79	1	0	0	0	0	0	0	0	1	3650	1103	39	1		1	CNTNAP5	2	125204448	Silent	SNP	G	TCGA-BR-8367-01A-11D-2340-08	81751983	125204448	117994925	13	53881											
ACVR2A	92	broad.mit.edu	37	chr2	148657061	148657072	+	In_Frame_Del	DEL	GTATATTTTTGT	GTATATTTTTGT	-													aaaaaaaagacagccctgaaGtatatttttgttgctgtgag							TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr2:148657060_148657071AGTATATTTTTGT>A	uc002twg.3	+	3	566_577	c.297_308AGTATATTTTTGT>A	c.(295-309)gaagtatatttttgt>gaAt	p.VYFC100del	ACVR2A_uc010zbn.2_5'UTR|ACVR2A_uc002twh.3_In_Frame_Del_p.VYFC100del	NM_001616	NP_001607	P27037	AVR2A_HUMAN	Homo sapiens activin A receptor, type IIA (ACVR2A), mRNA.	100					BMP signaling pathway|activin receptor signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		ACAGCCCTGAAGTATATTTTTGTTGCTGTGAG	0.33													-	148657072	GTATATTTTTGT	-	148657061	7	5	79	1	0	1	0	1	0	0	0	0	223	1029	36	0	308	0	ACVR2A	2	148657061	In_Frame_Del	DEL	GTATATTTTTGT	TCGA-BR-8367-01A-11D-2340-08	23452613	148657061	94542312	14	53882											
COL4A3	1285	broad.mit.edu	37	chr2	228128561	228128561	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaggaagtaaaggggaaCgaggccgcccaggaaaggat	16	6	0	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr2:228128561C>T	uc002vom.1	+	21	1378	c.1216C>T	c.(1216-1218)CGA>TGA	p.R406*	COL4A3_uc002von.1_Nonsense_Mutation_p.R406*|COL4A3_uc002voo.1_Nonsense_Mutation_p.R406*|COL4A3_uc002vop.1_Nonsense_Mutation_p.R406*|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	406	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TAAAGGGGAACGAGGCCGCCC	0.562													T	228128561	C	T	228128561	4	4	79	1	0	0	0	0	0	1	0	0	3691	528	19	1	1298	1	COL4A3	2	228128561	Nonsense_Mutation	SNP	C	TCGA-BR-8367-01A-11D-2340-08	79471500	228128561	15070812	15	53883											
MTMR14	64419	broad.mit.edu	37	chr3	9743656	9743656	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catcagcagcaatgccttgtGaagaagccagcccatgacat	9	12	1	3			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr3:9743656G>A	uc003brz.2	+	19	2076	c.1952G>A	c.(1951-1953)TGA>TAA	p.*651*	MTMR14_uc003bsa.2_Silent_p.*599*|MTMR14_uc003bsb.2_Silent_p.*539*|MTMR14_uc011ath.1_RNA|MTMR14_uc010hcl.2_Silent_p.*293*|MTMR14_uc003bsc.2_RNA|CPNE9_uc003bsd.2_5'Flank	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	jumpy isoform 2	651						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(99;0.227)					AATGCCTTGTGAAGAAGCCAG	0.597													A	9743656	G	A	9743656	2	1	79	1	0	0	0	0	0	0	0	1	9942	1285	45	4		4	MTMR14	3	9743656	Silent	SNP	G	TCGA-BR-8367-01A-11D-2340-08		9743656	188278774	16	53884											
SATB1	6304	broad.mit.edu	37	chr3	18390823	18390823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccacatcgacctctaaacCggaattgtccttcagtttgc	7	13	2	0			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr3:18390823C>T	uc003cbh.2	-	11	3866	c.2131G>A	c.(2131-2133)GGT>AGT	p.G711S	SATB1_uc003cbi.2_Missense_Mutation_p.G743S|SATB1_uc003cbj.2_Missense_Mutation_p.G711S	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	711					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						ACCTCTAAACCGGAATTGTCC	0.448													T	18390823	C	T	18390823	3	4	79	1	0	0	0	0	1	0	0	0	13853	652	23	1	164	1	SATB1	3	18390823	Missense_Mutation	SNP	C	TCGA-BR-8367-01A-11D-2340-08	8647167	18390823	179631607	17	53885											
DYNC1LI1	51143	broad.mit.edu	37	chr3	32582626	32582626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctttgtcttcttgtgacGcagtatttcttctctgggga	9	9	5	1	rs61729578		TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr3:32582626G>A	uc003cfb.3	-	5	729	c.641C>T	c.(640-642)GCG>GTG	p.A214V	DYNC1LI1_uc011axh.1_Missense_Mutation_p.A98V	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain	214					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			ovary(1)	1						TTCTTGTGACGCAGTATTTCT	0.413													A	32582626	G	A	32582626	3	1	79	1	0	0	0	0	1	0	0	0	4844	1087	38	1	966	1	DYNC1LI1	3	32582626	Missense_Mutation	SNP	G	TCGA-BR-8367-01A-11D-2340-08	14191803	32582626	165439804	18	53886											
SCN10A	6336	broad.mit.edu	37	chr3	38812885	38812885	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcaaaggtgtaaatgaCagtgaagacatatctgggaa	12	5	2	3			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr3:38812885C>A	uc003ciq.2	-	4	484	c.484G>T	c.(484-486)GTC>TTC	p.V162F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	162	Helical; Name=S2 of repeat I; (Potential).|I.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTGTAAATGACAGTGAAGACA	0.468													A	38812885	C	A	38812885	3	1	79	1	0	0	0	0	1	0	0	0	13912	478	17	5	5482	5	SCN10A	3	38812885	Missense_Mutation	SNP	C	TCGA-BR-8367-01A-11D-2340-08	6230259	38812885	159209545	19	53887											
CNTN3	5067	broad.mit.edu	37	chr3	74383974	74383974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagatgatgtctaacagcGggtcatgttgtacctggcag	12	7	2	2			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr3:74383974G>A	uc003dpm.1	-	12	1660	c.1580C>T	c.(1579-1581)CCG>CTG	p.P527L		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	527	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GTCTAACAGCGGGTCATGTTG	0.418													A	74383974	G	A	74383974	3	1	79	1	0	0	0	0	1	0	0	0	3642	1116	39	1	1550	1	CNTN3	3	74383974	Missense_Mutation	SNP	G	TCGA-BR-8367-01A-11D-2340-08	35571089	74383974	123638456	20	53888											
HTR3C	170572	broad.mit.edu	37	chr3	183772605	183772605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgacagaaaggccttccGtccattcaccaactacagca	7	13	1	2			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr3:183772605G>A	uc003fmk.2	+	2	198	c.164G>A	c.(163-165)CGT>CAT	p.R55H		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine receptor 3 subunit C	55	Extracellular (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AAGGCCTTCCGTCCATTCACC	0.517													A	183772605	G	A	183772605	3	1	79	1	0	0	0	0	1	0	0	0	7446	1145	40	1	170	1	HTR3C	3	183772605	Missense_Mutation	SNP	G	TCGA-BR-8367-01A-11D-2340-08	109388631	183772605	14249825	21	53889											
KLHL5	51088	broad.mit.edu	37	chr4	39088222	39088222	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcttggctagtgatgacatgAacattcctaatgaggagaca	10	7	1	5			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr4:39088222A>T	uc003gts.2	+	5	1201	c.1126A>T	c.(1126-1128)AAC>TAC	p.N376Y	KLHL5_uc003gtp.2_Missense_Mutation_p.N330Y|KLHL5_uc003gtq.2_Missense_Mutation_p.N189Y|KLHL5_uc003gtr.1_Missense_Mutation_p.N376Y|KLHL5_uc003gtt.2_Missense_Mutation_p.N315Y	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	kelch-like 5 isoform 1	376						cytoplasm|cytoskeleton	actin binding			ovary(1)	1						TGATGACATGAACATTCCTAA	0.388													T	39088222	A	T	39088222	3	4	79	1	0	0	0	0	1	0	0	0	8392	246	9	5	1144	5	KLHL5	4	39088222	Missense_Mutation	SNP	A	TCGA-BR-8367-01A-11D-2340-08		39088222	152066054	22	53890											
EGF	1950	broad.mit.edu	37	chr4	110915914	110915914	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccaccccctcacctcagGgaagatgaccaccactattc	5	18	2	2			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr4:110915914G>A	uc003hzy.3	+	20	3335	c.2883G>A	c.(2881-2883)AGG>AGA	p.R961R	EGF_uc011cfu.1_Silent_p.R919R|EGF_uc011cfv.1_Silent_p.R920R|EGF_uc010imk.2_Silent_p.R109R	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	961	Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CTCACCTCAGGGAAGATGACC	0.433													A	110915914	G	A	110915914	2	1	79	1	0	0	0	0	0	0	0	1	4962	1223	43	4		4	EGF	4	110915914	Silent	SNP	G	TCGA-BR-8367-01A-11D-2340-08	71827692	110915914	80238362	23	53891											
IRX4	50805	broad.mit.edu	37	chr5	1878831	1878831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcttcagctcgcacgccGgcggctctgcttccagcggg	15	16	2	0			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr5:1878831G>A	uc003jcz.2	-	5	931	c.812C>T	c.(811-813)CCG>CTG	p.P271L	IRX4_uc011cmf.1_Missense_Mutation_p.P132L	NM_016358	NP_057442	P78413	IRX4_HUMAN	iroquois homeobox 4	271					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(108;0.242)		CTCGCACGCCGGCGGCTCTGC	0.697													A	1878831	G	A	1878831	3	1	79	1	0	0	0	0	1	0	0	0	7846	1116	39	1	751	1	IRX4	5	1878831	Missense_Mutation	SNP	G	TCGA-BR-8367-01A-11D-2340-08		1878831	179036429	24	53892											
CDH12	1010	broad.mit.edu	37	chr5	21975261	21975261	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaaactttggctcattAtcattaatatcctgcacttt	3	10	2	0			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr5:21975261A>G	uc010iuc.2	-	3	923	c.465T>C	c.(463-465)GAT>GAC	p.D155D	CDH12_uc011cno.1_Silent_p.D155D|CDH12_uc003jgk.2_Silent_p.D155D	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	155	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						TTGGCTCATTATCATTAATAT	0.418										HNSCC(59;0.17)			G	21975261	A	G	21975261	2	3	79	1	0	0	0	0	0	0	0	1	3098	446	16	3		3	CDH12	5	21975261	Silent	SNP	A	TCGA-BR-8367-01A-11D-2340-08	20096430	21975261	158939999	25	53893											
PDZD2	23037	broad.mit.edu	37	chr5	32069712	32069712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgaagtcatagcacgcaGcacttatcaggagagcaaag	12	8	2	2			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr5:32069712G>A	uc003jhl.2	+	15	2877	c.2489G>A	c.(2488-2490)AGC>AAC	p.S830N	PDZD2_uc003jhm.2_Missense_Mutation_p.S830N|PDZD2_uc011cnx.1_Missense_Mutation_p.S656N	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	830					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						ATAGCACGCAGCACTTATCAG	0.383													A	32069712	G	A	32069712	3	1	79	1	0	0	0	0	1	0	0	0	11701	971	34	2	2543	2	PDZD2	5	32069712	Missense_Mutation	SNP	G	TCGA-BR-8367-01A-11D-2340-08	10094451	32069712	148845548	26	53894											
RAPGEF6	51735	broad.mit.edu	37	chr5	130764705	130764705	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggaacacaggccacgaggTtgctactgagagaagctggt	14	8	0	2	rs147369850	byFrequency	TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr5:130764705T>C	uc003kvn.1	-	27	4876	c.4670A>G	c.(4669-4671)AAC>AGC	p.N1557S	RAPGEF6_uc003kvp.1_Missense_Mutation_p.N1607S|RAPGEF6_uc003kvo.1_Intron|RAPGEF6_uc010jdi.1_Missense_Mutation_p.N1565S|RAPGEF6_uc010jdj.1_Intron|RAPGEF6_uc003kvm.1_Missense_Mutation_p.N480S	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	1557					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GGCCACGAGGTTGCTACTGAG	0.478													C	130764705	T	C	130764705	3	2	79	1	0	0	0	0	1	0	0	0	13048	1725	60	3	143	3	RAPGEF6	5	130764705	Missense_Mutation	SNP	T	TCGA-BR-8367-01A-11D-2340-08	98694993	130764705	50150555	27	53895											
RAD50	10111	broad.mit.edu	37	chr5	131915059	131915059	+	Frame_Shift_Del	DEL	A	A	-													gtgtgcagaaattgaccgagAaatgatcagttctcttgggg							TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr5:131915059delA	uc003kxi.2	+	4	803	c.416delA	c.(415-417)GAAfs	p.E139fs	RAD50_uc003kxg.1_Frame_Shift_Del_p.E40fs|RAD50_uc003kxh.2_5'UTR	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	139					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTGACCGAGAAATGATCAGT	0.373								Homologous_recombination					-	131915059	A	-	131915059	7	5	79	1	0	1	0	1	0	0	0	0	12984	246	9	0	430	0	RAD50	5	131915059	Frame_Shift_Del	DEL	A	TCGA-BR-8367-01A-11D-2340-08	1150354	131915059	49000201	28	53896											
PCDHA3	56145	broad.mit.edu	37	chr5	140182227	140182227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggtgtctgcgcgggacgCggacgcgcaggagaacgccc	17	14	1	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr5:140182227C>T	uc003lhf.2	+	1	1445	c.1445C>T	c.(1444-1446)GCG>GTG	p.A482V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A482V	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	482	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	p.A482V(1)		ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGGACGCGGACGCGCAG	0.667													T	140182227	C	T	140182227	3	4	79	1	0	0	0	0	1	0	0	0	11525	768	27	1	1447	1	PCDHA3	5	140182227	Missense_Mutation	SNP	C	TCGA-BR-8367-01A-11D-2340-08	8267168	140182227	40733033	29	53897											
PCDHA4	56144	broad.mit.edu	37	chr5	140187213	140187213	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatcgcggaatccaggccGcttgactctcggtttccact	9	15	1	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr5:140187213G>A	uc003lhi.2	+	1	542	c.441G>A	c.(439-441)CCG>CCA	p.P147P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.P147P|PCDHA4_uc011daa.1_Silent_p.P147P	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	147	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCCAGGCCGCTTGACTCTC	0.542													A	140187213	G	A	140187213	2	1	79	1	0	0	0	0	0	0	0	1	11526	1074	38	1		1	PCDHA4	5	140187213	Silent	SNP	G	TCGA-BR-8367-01A-11D-2340-08	4986	140187213	40728047	30	53898											
PCDHGA6	56109	broad.mit.edu	37	chr5	140753830	140753830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagccccaggagttggcGgagcacggagtccgcatcgt	16	12	0	0			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr5:140753830G>A	uc003ljy.1	+	1	180	c.180G>A	c.(178-180)GCG>GCA	p.A60A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.A60A	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	60	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGTTGGCGGAGCACGGAG	0.602													A	140753830	G	A	140753830	2	1	79	1	0	0	0	0	0	0	0	1	11558	1103	39	1		1	PCDHGA6	5	140753830	Silent	SNP	G	TCGA-BR-8367-01A-11D-2340-08	566617	140753830	40161430	31	53899											
MSX2	4488	broad.mit.edu	37	chr5	174151710	174151710	+	Frame_Shift_Del	DEL	G	G	-													ttgttttcgcccgacgaggaGggcccagcagtggtggccgg							TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr5:174151710delG	uc003mcy.2	+	1	136	c.48delG	c.(46-48)GAGfs	p.E16fs		NM_002449	NP_002440	P35548	MSX2_HUMAN	msh homeobox 2	16					cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCGACGAGGAGGGCCCAGCAG	0.701													-	174151710	G	-	174151710	7	5	79	1	0	1	0	1	0	0	0	0	9896	991	35	0	50	0	MSX2	5	174151710	Frame_Shift_Del	DEL	G	TCGA-BR-8367-01A-11D-2340-08	33397880	174151710	6763550	32	53900											
BAT2	7916	broad.mit.edu	37	chr6	31599008	31599008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgggcccccaatctctcGctttcctctggaggaaccag	9	17	2	0			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr6:31599008G>A	uc003nvb.3	+	16	2807	c.2558G>A	c.(2557-2559)CGC>CAC	p.R853H	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.R853H	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	853	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						CCAATCTCTCGCTTTCCTCTG	0.612													A	31599008	G	A	31599008	3	1	79	1	0	0	0	0	1	0	0	0	1319	1087	38	1	2616	1	BAT2	6	31599008	Missense_Mutation	SNP	G	TCGA-BR-8367-01A-11D-2340-08		31599008	139516059	33	53901											
BAI3	577	broad.mit.edu	37	chr6	70042852	70042852	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattttggtatttaataaacTtgtttccagagatggaatcc	7	6	0	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr6:70042852T>G	uc003pev.3	+	24	3588	c.3140T>G	c.(3139-3141)CTT>CGT	p.L1047R	BAI3_uc010kak.2_Missense_Mutation_p.L1047R|BAI3_uc011dxx.1_Missense_Mutation_p.L253R|BAI3_uc003pex.1_Missense_Mutation_p.L177R	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1047	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TTTAATAAACTTGTTTCCAGA	0.383													G	70042852	T	G	70042852	3	3	79	1	0	0	0	0	1	0	0	0	1300	1609	56	5	3226	5	BAI3	6	70042852	Missense_Mutation	SNP	T	TCGA-BR-8367-01A-11D-2340-08	38443844	70042852	101072215	34	53902											
FNDC1	84624	broad.mit.edu	37	chr6	159644628	159644628	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctcagtctgtgcttgtgTcctgggtggatcctgttctg	12	10	3	0			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr6:159644628T>C	uc010kjv.2	+	7	1035	c.835T>C	c.(835-837)TCC>CCC	p.S279P	FNDC1_uc010kjw.1_Missense_Mutation_p.S227P	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	279	Fibronectin type-III 3.					extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGTGCTTGTGTCCTGGGTGGA	0.428													C	159644628	T	C	159644628	3	2	79	1	0	0	0	0	1	0	0	0	5968	1667	58	3	861	3	FNDC1	6	159644628	Missense_Mutation	SNP	T	TCGA-BR-8367-01A-11D-2340-08	89601776	159644628	11470439	35	53903											
ADAM7	8756	broad.mit.edu	37	chr8	24333950	24333950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatttatatttccagtatcGcagaaatggtcatcctcaca	5	9	2	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr8:24333950G>A	uc003xeb.2	+	8	751	c.638G>A	c.(637-639)CGC>CAC	p.R213H	ADAM7_uc003xec.2_5'UTR	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	213	Peptidase M12B.|Extracellular (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)		ttCCAGTATCGCAGAAATGGT	0.289													A	24333950	G	A	24333950	3	1	79	1	0	0	0	0	1	0	0	0	251	1087	38	1	668	1	ADAM7	8	24333950	Missense_Mutation	SNP	G	TCGA-BR-8367-01A-11D-2340-08		24333950	122030072	36	53904											
WRN	7486	broad.mit.edu	37	chr8	30977907	30977907	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acttcaaagttcttgtcacgTcctctgggctcctgcagaca	8	13	4	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr8:30977907T>G	uc003xio.3	+	21	3385	c.2597T>G	c.(2596-2598)GTC>GGC	p.V866G	WRN_uc010lvk.2_Missense_Mutation_p.V333G	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	866	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TCTTGTCACGTCCTCTGGGCT	0.373			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				G	30977907	T	G	30977907	3	3	79	1	0	0	0	0	1	0	0	0	17399	1667	58	5	2675	5	WRN	8	30977907	Missense_Mutation	SNP	T	TCGA-BR-8367-01A-11D-2340-08	6643957	30977907	115386115	37	53905											
DBC1	1620	broad.mit.edu	37	chr9	121929663	121929663	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtcggcgttgaacctcAggctatacccaaacacctgc	11	13	1	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr9:121929663A>T	uc004bkc.2	-	8	2441	c.1985T>A	c.(1984-1986)CTG>CAG	p.L662Q		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	662					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						GTTGAACCTCAGGCTATACCC	0.577													T	121929663	A	T	121929663	3	4	79	1	0	0	0	0	1	0	0	0	4247	188	7	5	304	5	DBC1	9	121929663	Missense_Mutation	SNP	A	TCGA-BR-8367-01A-11D-2340-08		121929663	19283768	38	53906											
STXBP1	6812	broad.mit.edu	37	chr9	130439015	130439015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacatggctcacctcggcGtgcccatcgtcaccgatgta	9	16	2	0			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr9:130439015G>A	uc004brl.2	+	15	1539	c.1342G>A	c.(1342-1344)GTG>ATG	p.V448M	STXBP1_uc004brk.2_Missense_Mutation_p.V448M	NM_001032221	NP_001027392	P61764	STXB1_HUMAN	syntaxin binding protein 1 isoform b	448					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			skin(1)	1						TCACCTCGGCGTGCCCATCGT	0.577													A	130439015	G	A	130439015	3	1	79	1	0	0	0	0	1	0	0	0	15351	1145	40	1	1400	1	STXBP1	9	130439015	Missense_Mutation	SNP	G	TCGA-BR-8367-01A-11D-2340-08	8509352	130439015	10774416	39	53907											
UBAC1	10422	broad.mit.edu	37	chr9	138830109	138830109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggcccagctgcaccaccGggttatccaggatggcctga	12	14	1	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr9:138830109G>A	uc004cgt.2	-	9	1279	c.1061C>T	c.(1060-1062)CCG>CTG	p.P354L	UBAC1_uc004cgs.1_Missense_Mutation_p.P354L|UBAC1_uc004cgu.2_RNA	NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	ubiquitin associated domain containing 1	354	STI1.					Golgi apparatus|plasma membrane	protein binding			skin(2)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		CTGCACCACCGGGTTATCCAG	0.612													A	138830109	G	A	138830109	3	1	79	1	0	0	0	0	1	0	0	0	16831	1116	39	1	164	1	UBAC1	9	138830109	Missense_Mutation	SNP	G	TCGA-BR-8367-01A-11D-2340-08	8391094	138830109	2383322	40	53908											
SFMBT2	57713	broad.mit.edu	37	chr10	7409662	7409662	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcaccaccccacggggtGcaaatccgcgatgactacgt	11	14	0	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr10:7409662G>T	uc009xio.1	-	4	476	c.385C>A	c.(385-387)CAC>AAC	p.H129N	SFMBT2_uc001ijn.1_Missense_Mutation_p.H129N|SFMBT2_uc010qay.1_Missense_Mutation_p.H129N|SFMBT2_uc001ijo.1_Missense_Mutation_p.H129N	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	129	MBT 1.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						CCCACGGGGTGCAAATCCGCG	0.597													T	7409662	G	T	7409662	3	4	79	1	0	0	0	0	1	0	0	0	14158	1319	46	5	2371	5	SFMBT2	10	7409662	Missense_Mutation	SNP	G	TCGA-BR-8367-01A-11D-2340-08		7409662	128125085	41	53909											
CDH23	64072	broad.mit.edu	37	chr10	73537641	73537641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacatcgtcaacaccttcCgcatcgacagacacatggtc	7	15	1	1	rs111033522		TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr10:73537641C>T	uc001jrx.3	+	37	5427	c.5050C>T	c.(5050-5052)CGC>TGC	p.R1684C		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1684	Cadherin 16.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CAACACCTTCCGCATCGACAG	0.567													T	73537641	C	T	73537641	3	4	79	1	0	0	0	0	1	0	0	0	3108	652	23	1	5545	1	CDH23	10	73537641	Missense_Mutation	SNP	C	TCGA-BR-8367-01A-11D-2340-08	66127979	73537641	61997106	42	53910											
INA	9118	broad.mit.edu	37	chr10	105037351	105037351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggaggccgagctggccgCgctgcgacagcgccacgctg	17	14	0	0			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr10:105037351C>T	uc001kws.2	+	1	432	c.383C>T	c.(382-384)GCG>GTG	p.A128V	uc001kwr.2_5'Flank|INA_uc009xxj.2_Missense_Mutation_p.A128V	NM_032727	NP_116116	Q16352	AINX_HUMAN	internexin neuronal intermediate filament	128	Coil 1A.|Rod.			ALRQR -> RCDT (in Ref. 1; AAB34482).	cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			ovary(1)|breast(1)	2				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GAGCTGGCCGCGCTGCGACAG	0.706													T	105037351	C	T	105037351	3	4	79	1	0	0	0	0	1	0	0	0	7730	768	27	1	385	1	INA	10	105037351	Missense_Mutation	SNP	C	TCGA-BR-8367-01A-11D-2340-08	31499710	105037351	30497396	43	53911											
RGS10	6001	broad.mit.edu	37	chr10	121285598	121285598	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgctagccaaaacaaaacAttttcttcactgaattcctt	3	11	2	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr10:121285598A>G	uc001lee.2	-	2	177	c.177T>C	c.(175-177)AAT>AAC	p.N59N	RGS10_uc001lef.2_Silent_p.N53N|RGS10_uc001leg.2_Silent_p.N67N	NM_002925	NP_002916	O43665	RGS10_HUMAN	regulator of G-protein signaling 10 isoform b	59	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		AAAACAAAACATTTTCTTCAC	0.289													G	121285598	A	G	121285598	2	3	79	1	0	0	0	0	0	0	0	1	13293	214	8	3		3	RGS10	10	121285598	Silent	SNP	A	TCGA-BR-8367-01A-11D-2340-08	16248247	121285598	14249149	44	53912											
DCHS1	8642	broad.mit.edu	37	chr11	6652092	6652092	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccaagcgagctgagggaagCacctgttgtggaccggggag	18	9	0	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr11:6652092C>G	uc001mem.1	-	10	4343	c.3933G>C	c.(3931-3933)GTG>GTC	p.V1311V		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1311	Cadherin 12.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGAGGGAAGCACCTGTTGTG	0.637													G	6652092	C	G	6652092	2	3	79	1	0	0	0	0	0	0	0	1	4287	697	25	5		5	DCHS1	11	6652092	Silent	SNP	C	TCGA-BR-8367-01A-11D-2340-08		6652092	128354424	45	53913											
C11orf58	10944	broad.mit.edu	37	chr11	16776574	16776574	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagctgctgagcaccctgatGaagtggaggatcccaaaaac	11	10	0	3			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr11:16776574G>A	uc001mmk.2	+	5	653	c.475G>A	c.(475-477)GAA>AAA	p.E159K	C11orf58_uc010rct.1_Missense_Mutation_p.E115K	NM_014267	NP_055082	O00193	SMAP_HUMAN	small acidic protein isoform a	159											0						GCACCCTGATGAAGTGGAGGA	0.388													A	16776574	G	A	16776574	3	1	79	1	0	0	0	0	1	0	0	0	1651	1291	45	4	493	4	C11orf58	11	16776574	Missense_Mutation	SNP	G	TCGA-BR-8367-01A-11D-2340-08	10124482	16776574	118229942	46	53914											
CD163	9332	broad.mit.edu	37	chr12	7640475	7640475	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccctcacactggaattcTtcagcccagatctgtccatt	6	14	4	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr12:7640475T>G	uc001qsz.3	-	7	1757	c.1629A>C	c.(1627-1629)GAA>GAC	p.E543D	CD163_uc001qta.3_Missense_Mutation_p.E543D|CD163_uc009zfw.2_Missense_Mutation_p.E543D	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	543	SRCR 5.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						ACTGGAATTCTTCAGCCCAGA	0.532													G	7640475	T	G	7640475	3	3	79	1	0	0	0	0	1	0	0	0	2967	1606	56	5	1881	5	CD163	12	7640475	Missense_Mutation	SNP	T	TCGA-BR-8367-01A-11D-2340-08		7640475	126211420	47	53915											
C12orf59	120939	broad.mit.edu	37	chr12	10339108	10339108	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgagccgccagcaaaatgGggaagatgggggcccaccac	14	12	1	2			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr12:10339108G>T	uc001qxr.2	+	4	844	c.227G>T	c.(226-228)GGG>GTG	p.G76V	C12orf59_uc001qxq.2_Missense_Mutation_p.G56V			Q4KMG9	CL059_HUMAN	RecName: Full=Uncharacterized protein C12orf59; Flags: Precursor;	76						integral to membrane				ovary(1)	1						CAGCAAAATGGGGAAGATGGG	0.552													T	10339108	G	T	10339108	3	4	79	1	0	0	0	0	1	0	0	0	1702	1232	43	5	177	5	C12orf59	12	10339108	Missense_Mutation	SNP	G	TCGA-BR-8367-01A-11D-2340-08	2698633	10339108	123512787	48	53916											
PRB3	5544	broad.mit.edu	37	chr12	11420206	11420206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtccctggggctttccagCgggaggtggcagaggctgct	18	10	0	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr12:11420206C>T	uc001qzs.2	-	4	888	c.850G>A	c.(850-852)GCT>ACT	p.A284T	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	284	Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGCTTTCCAGCGGGAGGTGGC	0.617													T	11420206	C	T	11420206	3	4	79	1	0	0	0	0	1	0	0	0	12444	768	27	1	83	1	PRB3	12	11420206	Missense_Mutation	SNP	C	TCGA-BR-8367-01A-11D-2340-08	1081098	11420206	122431689	49	53917											
ATP8A2	51761	broad.mit.edu	37	chr13	26153948	26153949	+	Frame_Shift_Ins	INS	-	-	TT													cagtggctgtcttgcaggctINStgcggactctctgtgtggct					rs149507990	by1000genomes	TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr13:26153947_26153948C>CTT	uc001uqk.3	+	21	2011_2012	c.1869_1870C>CTT	c.(1867-1872)ggcttgfs	p.G623fs	ATP8A2_uc010tdi.2_Frame_Shift_Ins_p.G583fs|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Frame_Shift_Ins_p.G133fs	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	583					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GTCTTGCAGGCTTGCGGACTCT	0.52													TT	26153949	-	TT	26153948	7	5	79	1	0	1	1	0	0	0	0	0	1193	1606	56	0	1956	0	ATP8A2	13	26153948	Frame_Shift_Ins	INS	-	TCGA-BR-8367-01A-11D-2340-08		26153948	89015930	50	53918											
N4BP2L2	10443	broad.mit.edu	37	chr13	33016566	33016566	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaaaagctttactaattgaAaggcaaacccttgtgataat	6	7	0	2			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr13:33016566A>T	uc010abe.1	-	7	2130	c.2108T>A	c.(2107-2109)TTT>TAT	p.F703Y	N4BP2L2_uc001uug.2_Missense_Mutation_p.F586Y|N4BP2L2_uc010abd.1_Missense_Mutation_p.F616Y|N4BP2L2_uc001uuh.2_Missense_Mutation_p.F534Y|N4BP2L2_uc001uuj.2_Missense_Mutation_p.F122Y|N4BP2L2_uc010tdz.1_Missense_Mutation_p.F688Y	NM_033111	NP_149102	Q92802	N42L2_HUMAN	phosphonoformate immuno-associated protein 5	Error:Variant_position_missing_in_Q92802_after_alignment											0		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TACTAATTGAAAGGCAAACCC	0.393													T	33016566	A	T	33016566	3	4	79	1	0	0	0	0	1	0	0	0	10112	14	1	5	162	5	N4BP2L2	13	33016566	Missense_Mutation	SNP	A	TCGA-BR-8367-01A-11D-2340-08	6862618	33016566	82153312	51	53919											
SOHLH2	54937	broad.mit.edu	37	chr13	36748951	36748951	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agccgcatcattctttctccCttttacatacggcaagagag	7	12	3	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr13:36748951C>G	uc001uvj.2	-	7	786	c.697G>C	c.(697-699)GGG>CGG	p.G233R	SOHLH2_uc010tei.1_Missense_Mutation_p.G310R	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	233	Helix-loop-helix motif.				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TTCTTTCTCCCTTTTACATAC	0.408													G	36748951	C	G	36748951	3	3	79	1	0	0	0	0	1	0	0	0	14924	681	24	5	600	5	SOHLH2	13	36748951	Missense_Mutation	SNP	C	TCGA-BR-8367-01A-11D-2340-08	3732385	36748951	78420927	52	53920											
SLC12A1	6557	broad.mit.edu	37	chr15	48500152	48500152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctccaaagtggagaaaCtgctaaaacagatgccagtt	8	9	0	2			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr15:48500152C>T	uc001zwn.3	+	2	452	c.236C>T	c.(235-237)ACT>ATT	p.T79I	SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.2_Missense_Mutation_p.T79I|SLC12A1_uc010uex.1_Missense_Mutation_p.T79I	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	79	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AGTGGAGAAACTGCTAAAACA	0.428													T	48500152	C	T	48500152	3	4	79	1	0	0	0	0	1	0	0	0	14382	565	20	4	238	4	SLC12A1	15	48500152	Missense_Mutation	SNP	C	TCGA-BR-8367-01A-11D-2340-08		48500152	54031240	53	53921											
BNC1	646	broad.mit.edu	37	chr15	83935703	83935703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccagtaggatttttaggCgaacggggatggcctgggtc	17	7	0	0			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr15:83935703C>T	uc002bjt.1	-	3	408	c.320G>A	c.(319-321)CGC>CAC	p.R107H	BNC1_uc010uos.1_Missense_Mutation_p.R95H	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	107					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R107C(1)		ovary(3)	3						GATTTTTAGGCGAACGGGGAT	0.507													T	83935703	C	T	83935703	3	4	79	1	0	0	0	0	1	0	0	0	1474	768	27	1	2676	1	BNC1	15	83935703	Missense_Mutation	SNP	C	TCGA-BR-8367-01A-11D-2340-08	35435551	83935703	18595689	54	53922											
BNC1	646	broad.mit.edu	37	chr15	83936914	83936914	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccatccatgcttgcattggTcacactgacggtggtttatt	9	11	1	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr15:83936914T>A	uc002bjt.1	-	2	258	c.170A>T	c.(169-171)GAC>GTC	p.D57V	BNC1_uc010uos.1_Missense_Mutation_p.D45V	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	57					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CTTGCATTGGTCACACTGACG	0.443													A	83936914	T	A	83936914	3	1	79	1	0	0	0	0	1	0	0	0	1474	1667	58	5	2830	5	BNC1	15	83936914	Missense_Mutation	SNP	T	TCGA-BR-8367-01A-11D-2340-08	1211	83936914	18594478	55	53923											
PKD1	5310	broad.mit.edu	37	chr16	2160623	2160623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctgtgctgttgtaagcGtgggtgacctccggaccctc	12	13	1	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr16:2160623G>A	uc002cos.1	-	15	4754	c.4545C>T	c.(4543-4545)CAC>CAT	p.H1515H	PKD1_uc002cot.1_Silent_p.H1515H	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1515	Extracellular (Potential).|PKD 10.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						TGTTGTAAGCGTGGGTGACCT	0.667													A	2160623	G	A	2160623	2	1	79	1	0	0	0	0	0	0	0	1	11963	1136	40	1		1	PKD1	16	2160623	Silent	SNP	G	TCGA-BR-8367-01A-11D-2340-08		2160623	88194130	56	53924											
BTBD12	84464	broad.mit.edu	37	chr16	3639156	3639156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctattccccagggagcccgCgcccgaggacttctcttgca	11	16	1	0			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr16:3639156C>T	uc002cvp.2	-	12	5110	c.4483G>A	c.(4483-4485)GCG>ACG	p.A1495T		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1495	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						AGGGAGCCCGCGCCCGAGGAC	0.647								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				T	3639156	C	T	3639156	3	4	79	1	0	0	0	0	1	0	0	0	1540	768	27	1	1037	1	BTBD12	16	3639156	Missense_Mutation	SNP	C	TCGA-BR-8367-01A-11D-2340-08	1478533	3639156	86715597	57	53925											
ITGAD	3681	broad.mit.edu	37	chr16	31424208	31424208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagtattttgggcaggCgctgagtgggggtcaggacc	18	8	1	1	rs144853512		TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr16:31424208C>T	uc002ebv.1	+	15	1806	c.1757C>T	c.(1756-1758)GCG>GTG	p.A586V	ITGAD_uc010cap.1_Missense_Mutation_p.A587V	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	586	Extracellular (Potential).|FG-GAP 7.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						TTTGGGCAGGCGCTGAGTGGG	0.627													T	31424208	C	T	31424208	3	4	79	1	0	0	0	0	1	0	0	0	7884	768	27	1	1815	1	ITGAD	16	31424208	Missense_Mutation	SNP	C	TCGA-BR-8367-01A-11D-2340-08	27785052	31424208	58930545	58	53926											
CDH11	1009	broad.mit.edu	37	chr16	65038662	65038662	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttgcccttctcatggtgCccatggaaggagggccgcag	13	13	1	0			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr16:65038662C>T	uc002eoi.2	-	3	545	c.111G>A	c.(109-111)GGG>GGA	p.G37G	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Silent_p.G37G|CDH11_uc010vin.1_Intron|CDH11_uc010vio.1_Silent_p.G37G	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	37					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCTCATGGTGCCCATGGAAGG	0.637			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			T	65038662	C	T	65038662	2	4	79	1	0	0	0	0	0	0	0	1	3097	726	26	2		2	CDH11	16	65038662	Silent	SNP	C	TCGA-BR-8367-01A-11D-2340-08	33614454	65038662	25316091	59	53927											
SF3B3	23450	broad.mit.edu	37	chr16	70563084	70563085	+	Frame_Shift_Ins	INS	-	-	G													cttagctgtggatcccaaagINSggcgagccgttatgattagt							TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr16:70563083_70563084A>AG	uc002ezf.3	+	2	589_590	c.378_379A>AG	c.(376-381)aaagggfs	p.K126fs	SNORD111B_uc010cfv.2_5'Flank	NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	126					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGGATCCCAAAGGGCGAGCCGT	0.45													G	70563085	-	G	70563084	7	5	79	1	0	1	1	0	0	0	0	0	14152	1000	35	0	385	0	SF3B3	16	70563084	Frame_Shift_Ins	INS	-	TCGA-BR-8367-01A-11D-2340-08	5524422	70563084	19791669	60	53928											
EIF5A	1984	broad.mit.edu	37	chr17	7212989	7212989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacttcgagacaggagatgCaggggcctcagccaccttcc	13	13	1	2			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr17:7212989C>T	uc010vtv.1	+	2	272	c.35C>T	c.(34-36)GCA>GTA	p.A12V	EIF5A_uc002gfr.2_Missense_Mutation_p.A42V|EIF5A_uc010vtu.1_Nonsense_Mutation_p.Q2*|EIF5A_uc002gft.2_Missense_Mutation_p.A12V|EIF5A_uc002gfu.2_Missense_Mutation_p.A12V	NM_001970	NP_001961	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	12					induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding				0						ACAGGAGATGCAGGGGCCTCA	0.493													T	7212989	C	T	7212989	3	4	79	1	0	0	0	0	1	0	0	0	5041	710	25	2	131	2	EIF5A	17	7212989	Missense_Mutation	SNP	C	TCGA-BR-8367-01A-11D-2340-08		7212989	73982221	61	53929											
GLP2R	9340	broad.mit.edu	37	chr17	9763299	9763299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtccaggttctcttgcattActttgtgggtgccaattact	9	9	1	0			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr17:9763299A>G	uc002gmd.1	+	7	806	c.806A>G	c.(805-807)TAC>TGC	p.Y269C		NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	269	Helical; Name=3; (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				lung(2)|ovary(1)	3					Glucagon recombinant(DB00040)	CTCTTGCATTACTTTGTGGGT	0.577													G	9763299	A	G	9763299	3	3	79	1	0	0	0	0	1	0	0	0	6453	391	14	3	832	3	GLP2R	17	9763299	Missense_Mutation	SNP	A	TCGA-BR-8367-01A-11D-2340-08	2550310	9763299	71431911	62	53930											
NOS2	4843	broad.mit.edu	37	chr17	26097998	26097998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaccaccaacagcagccGttcctcctccaggcagctca	8	18	2	0			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr17:26097998G>A	uc002gzu.2	-	15	2014	c.1750C>T	c.(1750-1752)CGG>TGG	p.R584W	NOS2_uc010crh.1_Missense_Mutation_p.R584W|NOS2_uc010wab.1_Intron	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	584	Flavodoxin-like.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AACAGCAGCCGTTCCTCCTCC	0.607													A	26097998	G	A	26097998	3	1	79	1	0	0	0	0	1	0	0	0	10543	1144	40	1	1763	1	NOS2	17	26097998	Missense_Mutation	SNP	G	TCGA-BR-8367-01A-11D-2340-08	16334699	26097998	55097212	63	53931											
KRT17	3872	broad.mit.edu	37	chr17	39779266	39779266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagcaggatgttggcattgtCcacggtggctgtgaggatct	15	7	1	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr17:39779266C>T	uc002hxh.2	-	2	572	c.451G>A	c.(451-453)GAC>AAC	p.D151N	JUP_uc010wfs.1_Intron|KRT17_uc010wft.1_Missense_Mutation_p.D151N	NM_000422	NP_000413	Q04695	K1C17_HUMAN	keratin 17	151	Coil 1B.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2		Breast(137;0.000307)				TTGGCATTGTCCACGGTGGCT	0.582									Steatocystoma_Multiplex				T	39779266	C	T	39779266	3	4	79	1	0	0	0	0	1	0	0	0	8454	855	30	4	875	4	KRT17	17	39779266	Missense_Mutation	SNP	C	TCGA-BR-8367-01A-11D-2340-08	13681268	39779266	41415944	64	53932											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	79	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-BR-8367-01A-11D-2340-08	16607118	56386384	24808826	65	53933											
MTMR4	9110	broad.mit.edu	37	chr17	56572740	56572740	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagccgccgaggggtggcCtccccacttgggaatgaagt	15	12	0	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr17:56572740C>T	uc002iwj.2	-	16	2873	c.2763G>A	c.(2761-2763)GAG>GAA	p.E921E		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	921						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGGGGTGGCCTCCCCACTTG	0.577													T	56572740	C	T	56572740	2	4	79	1	0	0	0	0	0	0	0	1	9946	680	24	4		4	MTMR4	17	56572740	Silent	SNP	C	TCGA-BR-8367-01A-11D-2340-08	186356	56572740	24622470	66	53934											
SOX9	6662	broad.mit.edu	37	chr17	70119763	70119764	+	Frame_Shift_Ins	INS	-	-	GG													aggctgacctgaagcgagagINSgggcgccccttgccagaggg							TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr17:70119762_70119763A>AGG	uc002jiw.3	+	2	1136_1137	c.764_765A>AGG	c.(763-765)gagfs	p.E255fs	AK094963_uc002jiv.3_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	255					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding	p.R257fs*23(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CTGAAGCGAGAGGGGCGCCCCT	0.639													GG	70119764	-	GG	70119763	7	5	79	1	0	1	1	0	0	0	0	0	14958	991	35	0	775	0	SOX9	17	70119763	Frame_Shift_Ins	INS	-	TCGA-BR-8367-01A-11D-2340-08	13547023	70119763	11075447	67	53935											
ATP8B3	148229	broad.mit.edu	37	chr19	1785665	1785665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtccttctgccccaccaCgtacagctccggcttctcca	6	20	2	0			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr19:1785665C>T	uc002ltw.2	-	26	3430	c.3196G>A	c.(3196-3198)GTG>ATG	p.V1066M	ATP8B3_uc002ltv.2_Missense_Mutation_p.V1029M|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	1066	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCCACCACGTACAGCTCC	0.597													T	1785665	C	T	1785665	3	4	79	1	0	0	0	0	1	0	0	0	1196	536	19	1	722	1	ATP8B3	19	1785665	Missense_Mutation	SNP	C	TCGA-BR-8367-01A-11D-2340-08		1785665	57343318	68	53936											
MYO1F	4542	broad.mit.edu	37	chr19	8613192	8613192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggtttctgcatagcacGgttgatggcctgcggtgtgg	17	8	1	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr19:8613192G>A	uc002mkg.2	-	11	1225	c.1111C>T	c.(1111-1113)CGT>TGT	p.R371C	MYO1F_uc002mkh.2_Missense_Mutation_p.P372L	NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	371	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						TGCATAGCACGGTTGATGGCC	0.592													A	8613192	G	A	8613192	3	1	79	1	0	0	0	0	1	0	0	0	10073	1116	39	1	2257	1	MYO1F	19	8613192	Missense_Mutation	SNP	G	TCGA-BR-8367-01A-11D-2340-08	6827527	8613192	50515791	69	53937											
ZNF426	79088	broad.mit.edu	37	chr19	9646889	9646889	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcaacagagcttaccatggGacaaatcagcagctgccatc	9	12	1	1			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr19:9646889G>T	uc002mlq.2	-	3	284	c.20C>A	c.(19-21)TCC>TAC	p.S7Y	ZNF426_uc010dws.2_5'UTR|uc002mlr.2_5'Flank|uc002mls.2_5'Flank	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	zinc finger protein 426	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTTACCATGGGACAAATCAGC	0.463													T	9646889	G	T	9646889	3	4	79	1	0	0	0	0	1	0	0	0	17897	1174	41	5	1668	5	ZNF426	19	9646889	Missense_Mutation	SNP	G	TCGA-BR-8367-01A-11D-2340-08	1033697	9646889	49482094	70	53938											
PEG3	5178	broad.mit.edu	37	chr19	57335705	57335705	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctccggcttttttgctcGcacccaaggcttgagctttt	9	12	1	1	rs141346770	by1000genomes	TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr19:57335705G>A	uc002qnu.2	-	1	670	c.319C>T	c.(319-321)CGA>TGA	p.R107*	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_5'UTR|ZIM2_uc002qnq.2_5'UTR|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_5'UTR|PEG3_uc002qnt.2_Nonsense_Mutation_p.R107*|PEG3_uc002qnv.2_Nonsense_Mutation_p.R107*|PEG3_uc002qnw.2_5'UTR|PEG3_uc002qnx.2_5'UTR|PEG3_uc010etr.2_Nonsense_Mutation_p.R107*	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	107	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTTTTGCTCGCACCCAAGGC	0.537													A	57335705	G	A	57335705	4	1	79	1	0	0	0	0	0	1	0	0	11720	1095	38	1		1	PEG3	19	57335705	Nonsense_Mutation	SNP	G	TCGA-BR-8367-01A-11D-2340-08	47688816	57335705	1793278	71	53939											
SULF2	55959	broad.mit.edu	37	chr20	46292252	46292252	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgggtgaagcacgtgagGcctggcatgctgcacgtgtc	16	10	0	2	rs150627838	by1000genomes	TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr20:46292252G>T	uc002xto.2	-	16	2502	c.2172C>A	c.(2170-2172)GGC>GGA	p.G724G	SULF2_uc002xtr.2_Silent_p.G724G|SULF2_uc002xtq.2_Silent_p.G724G|SULF2_uc010zyd.1_Silent_p.G3G	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	724					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						AGCACGTGAGGCCTGGCATGC	0.622											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	46292252	G	T	46292252	2	4	79	1	0	0	0	0	0	0	0	1	15370	1190	42	5		5	SULF2	20	46292252	Silent	SNP	G	TCGA-BR-8367-01A-11D-2340-08		46292252	16733268	72	53940											
GRIK1	2897	broad.mit.edu	37	chr21	31062214	31062214	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctgtatgtgtggaacttcGagagcattgcaaatagactg	12	6	1	2			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr21:31062214G>A	uc002yno.1	-	3	842	c.378C>T	c.(376-378)CTC>CTT	p.L126L	GRIK1_uc002ynn.2_Silent_p.L126L|GRIK1_uc011acs.1_Silent_p.L126L|GRIK1_uc011act.1_Silent_p.L70L|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.2_Silent_p.L126L	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	126	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GTGGAACTTCGAGAGCATTGC	0.517													A	31062214	G	A	31062214	2	1	79	1	0	0	0	0	0	0	0	1	6773	1045	37	1		1	GRIK1	21	31062214	Silent	SNP	G	TCGA-BR-8367-01A-11D-2340-08		31062214	17067681	73	53941											
TIAM1	7074	broad.mit.edu	37	chr21	32638956	32638956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacgatgctgctgtctacGctgggagtgacagaagagtc	15	8	1	3			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr21:32638956G>A	uc002yow.1	-	5	805	c.333C>T	c.(331-333)AGC>AGT	p.S111S	TIAM1_uc011adk.1_Silent_p.S111S|TIAM1_uc011adl.1_Silent_p.S111S|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	111					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TGCTGTCTACGCTGGGAGTGA	0.557													A	32638956	G	A	32638956	2	1	79	1	0	0	0	0	0	0	0	1	15887	1078	38	1		1	TIAM1	21	32638956	Silent	SNP	G	TCGA-BR-8367-01A-11D-2340-08	1576742	32638956	15490939	74	53942											
VWA1	64856	broad.mit.edu	37	chr1	1372687	1372687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggctccagcgaccctgtgGgcccccccatgcaggagctc	13	18	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:1372687G>A	uc001afs.2	+	2	674	c.454G>A	c.(454-456)GGC>AGC	p.G152S	VWA1_uc001afr.2_Intron	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	152	VWFA.					basement membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGACCCTGTGGGCCCCCCCAT	0.647													A	1372687	G	A	1372687	3	1	80	1	0	0	0	0	1	0	0	0	17235	1232	43	4	460	4	VWA1	1	1372687	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08		1372687	247877934	1	53943											
CAMTA1	23261	broad.mit.edu	37	chr1	7724998	7724998	+	Frame_Shift_Del	DEL	G	G	-													tatgggcaccagctggtgtcGggggacagcacggcgctctc					rs61742693	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:7724998delG	uc001aoi.2	+	9	2598	c.2391delG	c.(2389-2391)TCGfs	p.S797fs		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	797					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGCTGGTGTCGGGGGACAGCA	0.637													-	7724998	G	-	7724998	7	5	80	1	0	1	0	1	0	0	0	0	2613	1103	39	0	2425	0	CAMTA1	1	7724998	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	6352311	7724998	241525623	2	53944											
RERE	473	broad.mit.edu	37	chr1	8418586	8418586	+	Frame_Shift_Del	DEL	G	G	-													ggggttggcggctgggtgcaGggggtccagctctgggggct					rs638744		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:8418586delG	uc001ape.2	-	21	4819	c.4009delC	c.(4009-4011)CTGfs	p.L1337fs	RERE_uc001apf.2_Frame_Shift_Del_p.L1337fs|RERE_uc001apd.2_Frame_Shift_Del_p.L783fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1337					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GCTGGGTGCAGGGGGTCCAGC	0.701													-	8418586	G	-	8418586	7	5	80	1	0	1	0	1	0	0	0	0	13231	991	35	0	707	0	RERE	1	8418586	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	693588	8418586	240832035	3	53945											
KIF1B	23095	broad.mit.edu	37	chr1	10336425	10336425	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgctctgagccccgcggaTatcaactacgatgagacttt	10	12	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:10336425T>C	uc001aqx.3	+	12	1207	c.1005T>C	c.(1003-1005)GAT>GAC	p.D335D	KIF1B_uc001aqv.3_Silent_p.D329D|KIF1B_uc001aqw.3_Silent_p.D329D|KIF1B_uc001aqy.2_Silent_p.D335D|KIF1B_uc001aqz.2_Silent_p.D335D|KIF1B_uc001ara.2_Silent_p.D335D|KIF1B_uc001arb.2_Silent_p.D335D	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	335	Kinesin-motor.|Interaction with KBP.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCCCCGCGGATATCAACTACG	0.398													C	10336425	T	C	10336425	2	2	80	1	0	0	0	0	0	0	0	1	8284	1403	49	3		3	KIF1B	1	10336425	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	1917839	10336425	238914196	4	53946											
PTCHD2	57540	broad.mit.edu	37	chr1	11595573	11595573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccatcatgtactggagcGgctgggagatgggggctgtg	18	7	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:11595573G>A	uc001ash.3	+	20	3826	c.3688G>A	c.(3688-3690)GGC>AGC	p.G1230S		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1230	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GTACTGGAGCGGCTGGGAGAT	0.647													A	11595573	G	A	11595573	3	1	80	1	0	0	0	0	1	0	0	0	12733	1116	39	1	3762	1	PTCHD2	1	11595573	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1259148	11595573	237655048	5	53947											
ATP13A2	23400	broad.mit.edu	37	chr1	17312850	17312850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaggcactggtctagcaCgctctgcaaagggcagggag	18	9	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:17312850C>T	uc001baa.2	-	29	3599	c.3409G>A	c.(3409-3411)GTG>ATG	p.V1137M	ATP13A2_uc001azz.1_Missense_Mutation_p.R227H|ATP13A2_uc001bab.2_Missense_Mutation_p.V1132M|ATP13A2_uc001bac.2_Missense_Mutation_p.R1036H	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	1137	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGGTCTAGCACGCTCTGCAAA	0.701													T	17312850	C	T	17312850	3	4	80	1	0	0	0	0	1	0	0	0	1124	536	19	1	373	1	ATP13A2	1	17312850	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	5717277	17312850	231937771	6	53948											
PLA2G2A	5320	broad.mit.edu	37	chr1	20304940	20304940	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagccgtagaagccataacTgagtgcggcttcctttcctg	11	12	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:20304940T>C	uc001bcu.2	-	3	336	c.118A>G	c.(118-120)AGT>GGT	p.S40G	PLA2G2A_uc001bcv.2_Missense_Mutation_p.S40G|PLA2G2A_uc010oda.1_Missense_Mutation_p.S40G|PLA2G2A_uc010odb.1_Missense_Mutation_p.S40G	NM_001161729	NP_001155201	P14555	PA2GA_HUMAN	phospholipase A2, group IIA precursor	40					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding				0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCCATAACTGAGTGCGGCT	0.547													C	20304940	T	C	20304940	3	2	80	1	0	0	0	0	1	0	0	0	11995	1580	55	3	328	3	PLA2G2A	1	20304940	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	2992090	20304940	228945681	7	53949											
PINK1	65018	broad.mit.edu	37	chr1	20975501	20975501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcaggtgtccacggcccGtcctggccccagggcagtga	15	14	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:20975501G>A	uc001bdm.2	+	7	1359	c.1265G>A	c.(1264-1266)CGT>CAT	p.R422H	PINK1_uc001bdn.2_Missense_Mutation_p.R115H	NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1 precursor	422	Protein kinase.|Cytoplasmic (Potential).				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			ovary(2)|central_nervous_system(1)	3		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCACGGCCCGTCCTGGCCCC	0.577													A	20975501	G	A	20975501	3	1	80	1	0	0	0	0	1	0	0	0	11932	1145	40	1	1291	1	PINK1	1	20975501	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	670561	20975501	228275120	8	53950											
SRRM1	10250	broad.mit.edu	37	chr1	24981444	24981444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcccaagaggacatccaGcccccctcggaaaactcgta	8	17	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:24981444G>A	uc001bjm.2	+	9	1363	c.1139G>A	c.(1138-1140)AGC>AAC	p.S380N	SRRM1_uc010oel.1_Missense_Mutation_p.S380N|SRRM1_uc009vrh.1_Missense_Mutation_p.S341N|SRRM1_uc009vri.1_Missense_Mutation_p.S297N|SRRM1_uc010oem.1_RNA	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	380	Pro-rich.|Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AGGACATCCAGCCCCCCTCGG	0.542													A	24981444	G	A	24981444	3	1	80	1	0	0	0	0	1	0	0	0	15167	971	34	2	1173	2	SRRM1	1	24981444	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	4005943	24981444	224269177	9	53951											
MAN1C1	57134	broad.mit.edu	37	chr1	26104703	26104703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcacctggcctgtttctcCgggggcatgatcgcccttgg	15	13	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:26104703C>T	uc001bkm.2	+	9	1695	c.1365C>T	c.(1363-1365)TCC>TCT	p.S455S	MAN1C1_uc009vry.1_Silent_p.S275S|MAN1C1_uc001bkn.2_5'Flank	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	455	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(1)	1		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CCTGTTTCTCCGGGGGCATGA	0.607													T	26104703	C	T	26104703	2	4	80	1	0	0	0	0	0	0	0	1	9213	639	23	1		1	MAN1C1	1	26104703	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1123259	26104703	223145918	10	53952											
CATSPER4	378807	broad.mit.edu	37	chr1	26526548	26526548	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaacgaataacctttagtgAggtgcgtgggatggggaggg	18	5	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:26526548A>G	uc010oez.1	+	7	986	c.986A>G	c.(985-987)GAG>GGG	p.E329G	CATSPER4_uc010oey.1_Missense_Mutation_p.E151G|CATSPER4_uc009vsf.2_RNA	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	329	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTTTAGTGAGGTGCGTGGG	0.502													G	26526548	A	G	26526548	3	3	80	1	0	0	0	0	1	0	0	0	2690	318	11	3	1012	3	CATSPER4	1	26526548	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	421845	26526548	222724073	11	53953											
ARID1A	8289	broad.mit.edu	37	chr1	27102120	27102121	+	Frame_Shift_Del	DEL	AG	AG	-													ctcaagtctggtctcctggcAgagagcacatgggcattaga							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:27102120_27102121delAG	uc001bmv.1	+	19	5419_5420	c.5046_5047delAG	c.(5044-5049)GCAGAGfs	p.A1682fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.A1681fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.A1465fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.A528fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.A10fs|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1682_1683					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTCTCCTGGCAGAGAGCACATG	0.525			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								-	27102121	AG	-	27102120	7	5	80	1	0	1	0	1	0	0	0	0	913	175	7	0	5120	0	ARID1A	1	27102120	Frame_Shift_Del	DEL	AG	TCGA-BR-8368-01A-11D-2340-08	575572	27102120	222148501	12	53954											
YTHDF2	51441	broad.mit.edu	37	chr1	29069277	29069279	+	In_Frame_Del	DEL	TGA	TGA	-													tccttaggtggagccatgatTgatggacagtcagcttttgc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:29069277_29069279delTGA	uc001brc.2	+	4	992_994	c.495_497delTGA	c.(493-498)ATTGAT>ATT	p.D166del	YTHDF2_uc001brd.2_In_Frame_Del_p.D163del|YTHDF2_uc010ofx.1_In_Frame_Del_p.D116del|YTHDF2_uc001bre.2_In_Frame_Del_p.D116del	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	166					humoral immune response					ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCCATGATTGATGGACAGTCA	0.468													-	29069279	TGA	-	29069277	7	5	80	1	0	1	0	1	0	0	0	0	17496	1800	63	0	509	0	YTHDF2	1	29069277	In_Frame_Del	DEL	TGA	TCGA-BR-8368-01A-11D-2340-08	1967157	29069277	220181344	13	53955											
EIF2C3	192669	broad.mit.edu	37	chr1	36474379	36474379	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctgccagtcatcaaacGtaagaaaagtttgtcagagc	10	9	3	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:36474379G>A	uc001bzp.2	+	7	1137	c.881_splice	c.e7+1	p.T294_splice	EIF2C3_uc001bzq.2_Splice_Site_p.T60_splice	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3						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)				GTCATCAAACGTAAGAAAAGT	0.448													A	36474379	G	A	36474379	5	1	80	1	0	0	0	0	0	0	1	0	5007	1159	40	1	908	1	EIF2C3	1	36474379	Splice_Site	SNP	G	TCGA-BR-8368-01A-11D-2340-08	7405102	36474379	212776242	14	53956											
EIF2C3	192669	broad.mit.edu	37	chr1	36505946	36505946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagcaattcgagaagcctgCatcagtttggagaaagacta	10	8	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:36505946C>T	uc001bzp.2	+	16	2332	c.2076C>T	c.(2074-2076)TGC>TGT	p.C692C	EIF2C3_uc001bzq.2_Silent_p.C458C	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	692	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)				GAGAAGCCTGCATCAGTTTGG	0.338													T	36505946	C	T	36505946	2	4	80	1	0	0	0	0	0	0	0	1	5007	718	25	2		2	EIF2C3	1	36505946	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	31567	36505946	212744675	15	53957											
MAP7D1	55700	broad.mit.edu	37	chr1	36643530	36643530	+	Frame_Shift_Del	DEL	C	C	-													atcctggcacaggcctgcctCcccctgccccagcccagggc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:36643530delC	uc001bzz.2	+	9	1652	c.1436delC	c.(1435-1437)TCCfs	p.S479fs	MAP7D1_uc001caa.2_Frame_Shift_Del_p.S447fs|MAP7D1_uc001cab.2_Frame_Shift_Del_p.S442fs|MAP7D1_uc001cac.2_Frame_Shift_Del_p.S179fs|MAP7D1_uc001cad.2_Frame_Shift_Del_p.S25fs	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	479	Pro-rich.					cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)				AGGCCTGCCTCCCCCTGCCCC	0.647													-	36643530	C	-	36643530	7	5	80	1	0	1	0	1	0	0	0	0	9267	855	30	0	1470	0	MAP7D1	1	36643530	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	137584	36643530	212607091	16	53958											
CSF3R	1441	broad.mit.edu	37	chr1	36940984	36940984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaaggacttacagcctgCgcgcagctcaacctggtcca	11	14	1	0	rs142999683	by1000genomes	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:36940984C>T	uc001caw.1	-	4	533	c.355G>A	c.(355-357)GCA>ACA	p.A119T	CSF3R_uc001cau.1_5'Flank|CSF3R_uc001cav.1_Missense_Mutation_p.A119T|CSF3R_uc001cax.1_Missense_Mutation_p.A119T|CSF3R_uc001cay.1_Missense_Mutation_p.A119T	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	119	Extracellular (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTACAGCCTGCGCGCAGCTCA	0.483													T	36940984	C	T	36940984	3	4	80	1	0	0	0	0	1	0	0	0	3937	768	27	1	2401	1	CSF3R	1	36940984	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	297454	36940984	212309637	17	53959											
ZC3H12A	80149	broad.mit.edu	37	chr1	37945977	37945980	+	Frame_Shift_Del	DEL	TGTT	TGTT	-													gggccacacagacatcacagTgtttgtgccatcctggagga							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:37945976_37945979GTGTT>G	uc001cbb.4	+	2	679_682	c.529_532GTGTT>G	c.(529-534)gtgtttfs	p.V177fs	ZC3H12A_uc001cbc.1_5'UTR	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	177					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGACATCACAGTGTTTGTGCCATC	0.623													-	37945980	TGTT	-	37945977	7	5	80	1	0	1	0	1	0	0	0	0	17558	1696	59	0	536	0	ZC3H12A	1	37945977	Frame_Shift_Del	DEL	TGTT	TCGA-BR-8368-01A-11D-2340-08	1004993	37945977	211304644	18	53960											
MEAF6	64769	broad.mit.edu	37	chr1	37961495	37961496	+	Frame_Shift_Ins	INS	-	-	T													tgatacttacagctcgtggtINStttttgtttaacttcagatc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:37961494_37961495G>GT	uc001cbe.1	-	6	605_606	c.588_589C>AC	c.(586-591)aaaccafs	p.K196fs	MEAF6_uc001cbd.1_Frame_Shift_Ins_p.K164fs|MEAF6_uc009vvd.1_Non-coding_Transcript|MEAF6_uc001cbg.1_Frame_Shift_Ins_p.K186fs|MEAF6_uc001cbh.1_3'UTR	NM_022756	NP_073593	Q9HAF1	EAF6_HUMAN	Homo sapiens MYST/Esa1-associated factor 6 (MEAF6), mRNA.	186					histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus	protein binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						ACAGCTCGTGGTTTTTTGTTTA	0.381													T	37961496	-	T	37961495	7	5	80	1	0	1	1	0	0	0	0	0	9421	1722	60	0	25	0	MEAF6	1	37961495	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	15518	37961495	211289126	19	53961											
HPCAL4	51440	broad.mit.edu	37	chr1	40149704	40149704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcttctgctcgaagctgcCgcgggaggtgaccgacaggg	17	11	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:40149704C>T	uc001cdr.2	-	3	403	c.283G>A	c.(283-285)GGC>AGC	p.G95S	HPCAL4_uc010oix.1_Intron	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	hippocalcin-like protein 4	95	EF-hand 2.				central nervous system development	intracellular	calcium ion binding			central_nervous_system(1)	1	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCGAAGCTGCCGCGGGAGGTG	0.632													T	40149704	C	T	40149704	3	4	80	1	0	0	0	0	1	0	0	0	7331	652	23	1	300	1	HPCAL4	1	40149704	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2188209	40149704	209100917	20	53962											
SMAP2	64744	broad.mit.edu	37	chr1	40879887	40879887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccccgaaatccacagcGcctgtcatggatttgttggg	11	12	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:40879887G>A	uc001cfj.2	+	6	611	c.546G>A	c.(544-546)GCG>GCA	p.A182A	SMAP2_uc010ojh.1_Silent_p.A182A|SMAP2_uc001cfk.2_Silent_p.A152A|SMAP2_uc010oji.1_Silent_p.A99A|SMAP2_uc010ojj.1_5'UTR	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	182	Interaction with clathrin heavy chains (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			AATCCACAGCGCCTGTCATGG	0.423													A	40879887	G	A	40879887	2	1	80	1	0	0	0	0	0	0	0	1	14767	1074	38	1		1	SMAP2	1	40879887	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	730183	40879887	208370734	21	53963											
HIVEP3	59269	broad.mit.edu	37	chr1	41978959	41978959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcgggctagtggtggaCggctgcctgcttctttgctt	15	9	1	0	rs144265546		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:41978959C>T	uc001cgz.3	-	8	7146	c.5933G>A	c.(5932-5934)CGT>CAT	p.R1978H	HIVEP3_uc001cha.3_Missense_Mutation_p.R1978H|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1978					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TAGTGGTGGACGGCTGCCTGC	0.612													T	41978959	C	T	41978959	3	4	80	1	0	0	0	0	1	0	0	0	7188	536	19	1	1295	1	HIVEP3	1	41978959	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1099072	41978959	207271662	22	53964											
TIE1	7075	broad.mit.edu	37	chr1	43770628	43770628	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcggggaggggctcggaCgcctggggcccgcccctgct	21	14	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:43770628C>T	uc001ciu.2	+	2	244	c.165C>T	c.(163-165)GAC>GAT	p.D55D	TIE1_uc010okd.1_Silent_p.D55D|TIE1_uc010oke.1_Silent_p.D10D|TIE1_uc009vwq.2_Silent_p.D55D|TIE1_uc010okf.1_Translation_Start_Site|TIE1_uc010okg.1_5'Flank|TIE1_uc010oka.1_Silent_p.D55D|TIE1_uc010okb.1_Silent_p.D55D|TIE1_uc010okc.1_Silent_p.D55D	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	55	Extracellular (Potential).|Ig-like C2-type 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGGCTCGGACGCCTGGGGCC	0.736													T	43770628	C	T	43770628	2	4	80	1	0	0	0	0	0	0	0	1	15890	535	19	1		1	TIE1	1	43770628	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1791669	43770628	205479993	23	53965											
ST3GAL3	6487	broad.mit.edu	37	chr1	44386577	44386577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcactactatgagaccGttcgcatggcagccatcaaa	8	14	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:44386577G>A	uc001ckc.2	+	11	1192	c.1015G>A	c.(1015-1017)GTT>ATT	p.V339I	ST3GAL3_uc001cjz.2_Missense_Mutation_p.V354I|ST3GAL3_uc001cka.2_Intron|ST3GAL3_uc001ckb.2_Missense_Mutation_p.V408I|ST3GAL3_uc001ckd.2_Missense_Mutation_p.V393I|ST3GAL3_uc001cke.2_Missense_Mutation_p.V323I|ST3GAL3_uc001ckf.2_Missense_Mutation_p.V377I|ST3GAL3_uc001ckg.2_Intron|ST3GAL3_uc001ckh.2_Intron|ST3GAL3_uc001cki.2_Intron|ST3GAL3_uc009vwv.2_Missense_Mutation_p.V309I|ST3GAL3_uc001ckj.2_RNA|ST3GAL3_uc009vww.2_RNA|ST3GAL3_uc001ckk.2_Missense_Mutation_p.V308I|ST3GAL3_uc009vwy.2_Missense_Mutation_p.V245I|ST3GAL3_uc009vwx.2_Intron|ST3GAL3_uc001ckm.2_Intron|ST3GAL3_uc001ckl.2_Intron|ST3GAL3_uc009vwz.2_Missense_Mutation_p.V113I|ST3GAL3_uc001ckn.2_Intron|ST3GAL3_uc001ckp.2_Intron|ST3GAL3_uc001cko.2_Intron|ST3GAL3_uc009vxa.2_Missense_Mutation_p.V126I|ST3GAL3_uc001ckq.2_Intron|ST3GAL3_uc001ckr.2_Intron|ST3GAL3_uc009vxb.2_Intron	NM_006279	NP_006270	Q11203	SIAT6_HUMAN	sialyltransferase 6 isoform j	339	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			ovary(3)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CTATGAGACCGTTCGCATGGC	0.582													A	44386577	G	A	44386577	3	1	80	1	0	0	0	0	1	0	0	0	15215	1145	40	1	1264	1	ST3GAL3	1	44386577	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	615949	44386577	204864044	24	53966											
KIF2C	11004	broad.mit.edu	37	chr1	45226082	45226082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagggaatgagcgaggcGcggacacttccagtgctgac	16	10	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:45226082G>A	uc001cmg.3	+	15	1613	c.1498G>A	c.(1498-1500)GCG>ACG	p.A500T	KIF2C_uc010olb.1_Missense_Mutation_p.A459T|KIF2C_uc010olc.1_Missense_Mutation_p.A387T|KIF2C_uc001cmh.3_Missense_Mutation_p.A446T	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	kinesin family member 2C	500	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					TGAGCGAGGCGCGGACACTTC	0.557													A	45226082	G	A	45226082	3	1	80	1	0	0	0	0	1	0	0	0	8299	1087	38	1	1556	1	KIF2C	1	45226082	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	839505	45226082	204024539	25	53967											
BTF3L4	91408	broad.mit.edu	37	chr1	52530502	52530502	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggttatttttcagggtacAgctcgcagaaagaagaaggt	12	5	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:52530502A>C	uc001ctk.2	+	3	268	c.60A>C	c.(58-60)ACA>ACC	p.T20T	BTF3L4_uc001ctl.2_5'UTR|BTF3L4_uc010onh.1_RNA|BTF3L4_uc001ctm.2_Silent_p.T20T	NM_152265	NP_689478	Q96K17	BT3L4_HUMAN	basic transcription factor 3-like 4 isoform 1	20										large_intestine(1)	1						TTCAGGGTACAGCTCGCAGAA	0.408													C	52530502	A	C	52530502	2	2	80	1	0	0	0	0	0	0	0	1	1552	175	7	5		5	BTF3L4	1	52530502	Silent	SNP	A	TCGA-BR-8368-01A-11D-2340-08	7304420	52530502	196720119	26	53968											
LRP8	7804	broad.mit.edu	37	chr1	53741403	53741403	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccccacactggaactcGtccccacggcaggtgcccag	9	19	0	0	rs141574960	by1000genomes	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:53741403G>A	uc001cvi.1	-	6	1048	c.906C>T	c.(904-906)GAC>GAT	p.D302D	LRP8_uc001cvh.1_Translation_Start_Site|LRP8_uc001cvk.1_Intron|LRP8_uc001cvj.1_Silent_p.D302D|LRP8_uc001cvl.1_Silent_p.D173D	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	302	LDL-receptor class A 7.|Extracellular (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0						ACTGGAACTCGTCCCCACGGC	0.592													A	53741403	G	A	53741403	2	1	80	1	0	0	0	0	0	0	0	1	8963	1136	40	1		1	LRP8	1	53741403	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1210901	53741403	195509218	27	53969											
ROR1	4919	broad.mit.edu	37	chr1	64515460	64515460	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctctgggaatccacctccCaccatccgctggttcaaaaa	7	15	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:64515460C>A	uc001dbj.2	+	3	660	c.261C>A	c.(259-261)CCC>CCA	p.P87P	ROR1_uc001dbi.3_Silent_p.P87P	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	87	Ig-like C2-type.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						ATCCACCTCCCACCATCCGCT	0.542													A	64515460	C	A	64515460	2	1	80	1	0	0	0	0	0	0	0	1	13526	581	21	5		5	ROR1	1	64515460	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	10774057	64515460	184735161	28	53970											
SLC35D1	23169	broad.mit.edu	37	chr1	67470100	67470100	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgctcttcagtgaaagTgatataggaatataccaggc	10	8	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:67470100T>C	uc001ddk.2	-	12	1375	c.991A>G	c.(991-993)ACT>GCT	p.T331A		NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-glucuronic	331					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity				0					Lorazepam(DB00186)	TCAGTGAAAGTGATATAGGAA	0.448													C	67470100	T	C	67470100	3	2	80	1	0	0	0	0	1	0	0	0	14581	1696	59	3	80	3	SLC35D1	1	67470100	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	2954640	67470100	181780521	29	53971											
C1orf141	400757	broad.mit.edu	37	chr1	67558998	67558998	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttattagttttcttcTttagtttatcatctacagtt	4	7	5	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:67558998T>C	uc001ddl.1	-	7	1004	c.893A>G	c.(892-894)AAG>AGG	p.K298R	C1orf141_uc001ddm.1_Missense_Mutation_p.K298R|C1orf141_uc001ddn.1_RNA	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	hypothetical protein LOC400757	298										ovary(1)	1						AGTTTTCTTCTTTAGTTTATC	0.343													C	67558998	T	C	67558998	3	2	80	1	0	0	0	0	1	0	0	0	2001	1609	56	3	313	3	C1orf141	1	67558998	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	88898	67558998	181691623	30	53972											
FUBP1	8880	broad.mit.edu	37	chr1	78430841	78430841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttgaactgcatttcccGgtccatcgccatgatggaag	9	11	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:78430841G>A	uc001dii.2	-	8	637	c.548C>T	c.(547-549)CCG>CTG	p.P183L	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.P204L	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	183					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3						TGCATTTCCCGGTCCATCGCC	0.403													A	78430841	G	A	78430841	3	1	80	1	0	0	0	0	1	0	0	0	6092	1116	39	1	1438	1	FUBP1	1	78430841	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	10871843	78430841	170819780	31	53973											
SSX2IP	117178	broad.mit.edu	37	chr1	85130170	85130170	+	Frame_Shift_Del	DEL	T	T	-													agtttattatattcacgctcTtttctcttcatatcatgatt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:85130170delT	uc001dkh.2	-	7	878	c.603delA	c.(601-603)AAAfs	p.K201fs	SSX2IP_uc001dkf.2_Frame_Shift_Del_p.K174fs|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Frame_Shift_Del_p.K174fs|SSX2IP_uc001dki.2_Frame_Shift_Del_p.K201fs|SSX2IP_uc010osa.1_Frame_Shift_Del_p.K174fs|SSX2IP_uc001dkj.2_Frame_Shift_Del_p.K201fs|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Frame_Shift_Del_p.K197fs	NM_014021	NP_054740	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting	201	Potential.				cell adhesion	nucleus|protein complex				ovary(2)	2				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ATTCACGCTCTTTTCTCTTCA	0.338													-	85130170	T	-	85130170	7	5	80	1	0	1	0	1	0	0	0	0	15203	1606	56	0	1277	0	SSX2IP	1	85130170	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	6699329	85130170	164120451	32	53974											
DDAH1	23576	broad.mit.edu	37	chr1	85816154	85816154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgatcaggttaggcccagCcatgctgcagaaactcttca	10	12	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:85816154C>T	uc001dlb.2	-	4	702	c.541G>A	c.(541-543)GCT>ACT	p.A181T	DDAH1_uc001dlc.2_Missense_Mutation_p.A78T|uc001dla.1_Intron|DDAH1_uc010osb.1_Missense_Mutation_p.A81T|DDAH1_uc009wco.2_Missense_Mutation_p.A78T	NM_012137	NP_036269	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	181					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding				0				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	TTAGGCCCAGCCATGCTGCAG	0.468													T	85816154	C	T	85816154	3	4	80	1	0	0	0	0	1	0	0	0	4321	739	26	2	328	2	DDAH1	1	85816154	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	685984	85816154	163434467	33	53975											
PKN2	5586	broad.mit.edu	37	chr1	89298759	89298759	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttattttacattatgctaGctgttaagaagaaatcctga	6	5	0	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:89298759G>A	uc001dmn.2	+	21	3013	c.2671_splice	c.e21-1	p.L891_splice	PKN2_uc010osp.1_Splice_Site_p.L875_splice|PKN2_uc010osq.1_Splice_Site_p.L734_splice|PKN2_uc009wcv.2_Splice_Site_p.L843_splice|PKN2_uc010osr.1_Splice_Site_p.L556_splice	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2						signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CATTATGCTAGCTGTTAAGAA	0.308													A	89298759	G	A	89298759	5	1	80	1	0	0	0	0	0	0	1	0	11980	985	34	2	2752	2	PKN2	1	89298759	Splice_Site	SNP	G	TCGA-BR-8368-01A-11D-2340-08	3482605	89298759	159951862	34	53976											
LRRC8B	23507	broad.mit.edu	37	chr1	90048782	90048782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtccaagattttgctttcGtcctcagggtgttcagctga	10	9	2	2	rs114525158	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:90048782G>A	uc001dni.2	+	7	1080	c.573G>A	c.(571-573)TCG>TCA	p.S191S	LRRC8B_uc001dnh.2_Silent_p.S191S|LRRC8B_uc001dnj.2_Silent_p.S191S	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	191						integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TTTTGCTTTCGTCCTCAGGGT	0.527													A	90048782	G	A	90048782	2	1	80	1	0	0	0	0	0	0	0	1	9022	1132	40	1		1	LRRC8B	1	90048782	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	750023	90048782	159201839	35	53977											
LPPR5	163404	broad.mit.edu	37	chr1	99470033	99470034	+	Frame_Shift_Ins	INS	-	-	G													ccagcgagtagaggagcacgINSgggggcacggcgctgctgtc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:99470032_99470033C>CG	uc001dsb.3	-	0	417_418	c.195_196G>CG	c.(193-198)cccgtgfs	p.P65fs	LOC100129620_uc001dsd.1_Non-coding_Transcript|LPPR5_uc001dsc.3_Frame_Shift_Ins_p.P65fs	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 5 (LPPR5), transcript variant 1, mRNA.	65						integral to membrane	hydrolase activity										TAGAGGAGCACGGGGGGCACGG	0.708													G	99470034	-	G	99470033	7	5	80	1	0	1	1	0	0	0	0	0	8928	1103	39	0	794	0	LPPR5	1	99470033	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	9421251	99470033	149780588	36	53978											
AGL	178	broad.mit.edu	37	chr1	100342155	100342155	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaaactttgctgaaccgggTatgtaatttttaacttctct	7	8	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:100342155T>C	uc001dsi.1	+	11	1823	c.1423_splice	c.e11+2	p.G475_splice	AGL_uc001dsj.1_Splice_Site_p.G475_splice|AGL_uc001dsk.1_Splice_Site_p.G475_splice|AGL_uc001dsl.1_Splice_Site_p.G475_splice|AGL_uc001dsm.1_Splice_Site_p.G459_splice|AGL_uc001dsn.1_Splice_Site_p.G458_splice	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,						glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CTGAACCGGGTATGTAATTTT	0.378													C	100342155	T	C	100342155	5	2	80	1	0	0	0	0	0	0	1	0	384	1652	57	3	1532	3	AGL	1	100342155	Splice_Site	SNP	T	TCGA-BR-8368-01A-11D-2340-08	872122	100342155	148908466	37	53979											
CDC14A	8556	broad.mit.edu	37	chr1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-													gcactcctgtctggctcaaaCcccccctatcttccattcag					rs138415707		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:100889836_100889836AC>A	uc001dtf.2	+	4	856	c.368_368AC>A	c.(367-369)aacfs	p.N123fs	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Frame_Shift_Del_p.N65fs|CDC14A_uc001dte.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wed.1_5'UTR|CDC14A_uc001dtg.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wee.3_Frame_Shift_Del_p.N123fs	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	123	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTGGCTCAAACCCCCCCTAT	0.403													-	100889837	C	-	100889837	7	5	80	1	0	1	0	1	0	0	0	0	3056	506	18	0	387	0	CDC14A	1	100889837	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	547682	100889837	148360784	38	53980											
S1PR1	1901	broad.mit.edu	37	chr1	101704655	101704655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggaaagctgaatatcagcGcggacaaggagaacagcatt	13	8	1	2	rs140298731		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:101704655G>A	uc001dud.2	+	2	629	c.115G>A	c.(115-117)GCG>ACG	p.A39T	S1PR1_uc009weg.2_Missense_Mutation_p.A39T	NM_001400	NP_001391	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	39	Extracellular (By similarity).				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)	3						GAATATCAGCGCGGACAAGGA	0.498											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	101704655	G	A	101704655	3	1	80	1	0	0	0	0	1	0	0	0	13793	1087	38	1	117	1	S1PR1	1	101704655	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	814818	101704655	147545966	39	53981											
COL11A1	1301	broad.mit.edu	37	chr1	103379956	103379956	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggatctccaggaaaaccaacAggaccctagaatgacgtttt	9	10	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:103379956A>T	uc001dul.2	-	52	4248	c.3930T>A	c.(3928-3930)CCT>CCA	p.P1310P	COL11A1_uc001duk.2_Silent_p.P506P|COL11A1_uc001dum.2_Silent_p.P1322P|COL11A1_uc001dun.2_Silent_p.P1271P|COL11A1_uc009weh.2_Silent_p.P1194P	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1310	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GAAAACCAACAGGACCCTAGA	0.353													T	103379956	A	T	103379956	2	4	80	1	0	0	0	0	0	0	0	1	3667	175	7	5		5	COL11A1	1	103379956	Silent	SNP	A	TCGA-BR-8368-01A-11D-2340-08	1675301	103379956	145870665	40	53982											
PRPF38B	55119	broad.mit.edu	37	chr1	109242456	109242456	+	Frame_Shift_Del	DEL	A	A	-													actgacagtgttgaaaaatcAaaaaaacgggaacatagtcc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:109242456delA	uc001dvv.3	+	6	1737	c.1455delA	c.(1453-1455)TCAfs	p.S485fs	PRPF38B_uc001dvw.3_Frame_Shift_Del_p.S374fs|PRPF38B_uc010ouz.1_Frame_Shift_Del_p.S288fs	NM_018061	NP_060531	Q5VTL8	PR38B_HUMAN	PRP38 pre-mRNA processing factor 38 (yeast)	485					mRNA processing|RNA splicing	spliceosomal complex					0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		TTGAAAAATCAAAAAAACGGG	0.343													-	109242456	A	-	109242456	7	5	80	1	0	1	0	1	0	0	0	0	12568	117	5	0	1477	0	PRPF38B	1	109242456	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	5862500	109242456	140008165	41	53983											
CLCC1	23155	broad.mit.edu	37	chr1	109479933	109479933	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtctataatcaatttcCtcctgccgtcttctatcccg	5	14	5	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:109479933C>A	uc001dwe.1	-	10	1241	c.1149G>T	c.(1147-1149)GAG>GAT	p.E383D	AKNAD1_uc010ovb.1_Intron|CLCC1_uc001dwf.1_Missense_Mutation_p.E383D|CLCC1_uc001dwg.1_Missense_Mutation_p.E333D|CLCC1_uc009wes.1_Missense_Mutation_p.E262D|CLCC1_uc009wet.1_Missense_Mutation_p.E198D	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Mid-1-related chloride channel 1 isoform 1	383						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				liver(1)	1		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		AATCAATTTCCTCCTGCCGTC	0.527													A	109479933	C	A	109479933	3	1	80	1	0	0	0	0	1	0	0	0	3460	680	24	5	514	5	CLCC1	1	109479933	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	237477	109479933	139770688	42	53984											
WDR47	22911	broad.mit.edu	37	chr1	109553736	109553736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaagcaggattcagagagCgggtcatataggcatcagct	12	8	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:109553736C>T	uc001dwj.2	-	5	1308	c.932G>A	c.(931-933)CGC>CAC	p.R311H	WDR47_uc001dwl.2_Missense_Mutation_p.R318H|WDR47_uc001dwi.2_Missense_Mutation_p.R311H|WDR47_uc001dwk.2_Missense_Mutation_p.R283H|WDR47_uc010ovf.1_Missense_Mutation_p.R238H	NM_001142551	NP_001136023	O94967	WDR47_HUMAN	WD repeat domain 47 isoform 3	311										ovary(1)	1		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATTCAGAGAGCGGGTCATATA	0.453													T	109553736	C	T	109553736	3	4	80	1	0	0	0	0	1	0	0	0	17297	768	27	1	1874	1	WDR47	1	109553736	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	73803	109553736	139696885	43	53985											
CELSR2	1952	broad.mit.edu	37	chr1	109794579	109794579	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgaggatgcagctgtgggCaccagcgtggtgacggtgtc	17	8	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:109794579C>T	uc001dxa.3	+	1	1939	c.1878C>T	c.(1876-1878)GGC>GGT	p.G626G		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	626	Cadherin 5.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAGCTGTGGGCACCAGCGTGG	0.547													T	109794579	C	T	109794579	2	4	80	1	0	0	0	0	0	0	0	1	3222	697	25	2		2	CELSR2	1	109794579	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	240843	109794579	139456042	44	53986											
CELSR2	1952	broad.mit.edu	37	chr1	109804465	109804465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgtccccattcgtgcccGgaggagtcagtgatggccag	15	12	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:109804465G>A	uc001dxa.3	+	5	4394	c.4333G>A	c.(4333-4335)GGA>AGA	p.G1445R		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1445	Extracellular (Potential).|Laminin G-like 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ATTCGTGCCCGGAGGAGTCAG	0.592													A	109804465	G	A	109804465	3	1	80	1	0	0	0	0	1	0	0	0	3222	1117	39	1	4351	1	CELSR2	1	109804465	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	9886	109804465	139446156	45	53987											
MOV10	4343	broad.mit.edu	37	chr1	113241375	113241375	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatcaccaaacttgacagGgagcttcgaggactggatga	12	9	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:113241375G>A	uc001eck.2	+	17	2817	c.2547G>A	c.(2545-2547)AGG>AGA	p.R849R	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Silent_p.R849R|MOV10_uc001ecm.2_Silent_p.R789R	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	849					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		AACTTGACAGGGAGCTTCGAG	0.542													A	113241375	G	A	113241375	2	1	80	1	0	0	0	0	0	0	0	1	9718	1223	43	4		4	MOV10	1	113241375	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	3436910	113241375	136009246	46	53988											
TTF2	8458	broad.mit.edu	37	chr1	117633229	117633229	+	Frame_Shift_Del	DEL	T	T	-													aagagactgtttacaatgtgTtttttgcaagatcaaggtgt					rs144621848		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:117633228_117633228GT>G	uc001egy.3	+	14	2591	c.2571_2571GT>G	c.(2569-2571)gtgfs	p.V857fs		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	857					RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TTTACAATGTGTTTTTTGCAA	0.378													-	117633229	T	-	117633229	7	5	80	1	0	1	0	1	0	0	0	0	16716	1725	60	0	2630	0	TTF2	1	117633229	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	4391854	117633229	131617392	47	53989											
WDR3	10885	broad.mit.edu	37	chr1	118499758	118499758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acattcttaaactctttaacGaattcattcagctgggctct	5	10	5	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:118499758G>A	uc010oxe.1	+	25	2587	c.2521G>A	c.(2521-2523)GAA>AAA	p.E841K	WDR3_uc001ehi.2_Intron|SPAG17_uc001ehk.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	841						nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		ACTCTTTAACGAATTCATTCA	0.388													A	118499758	G	A	118499758	3	1	80	1	0	0	0	0	1	0	0	0	17282	1059	37	1	2615	1	WDR3	1	118499758	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	866529	118499758	130750863	48	53990											
PPIAL4G	644591	broad.mit.edu	37	chr1	143767741	143767741	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccagtgctcagagcacgAaagttttctgctgtctttgg	10	10	4	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:143767741A>G	uc001ejt.2	-	1	141	c.108T>C	c.(106-108)TTT>TTC	p.F36F		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like	36	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity				0						TCAGAGCACGAAAGTTTTCTG	0.473													G	143767741	A	G	143767741	2	3	80	1	0	0	0	0	0	0	0	1	12318	243	9	3		3	PPIAL4G	1	143767741	Silent	SNP	A	TCGA-BR-8368-01A-11D-2340-08	25267983	143767741	105482880	49	53991											
PIAS3	10401	broad.mit.edu	37	chr1	145584029	145584029	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatctgaggtttgccccccGccagggtatgggctggatgg	16	11	1	1	rs147716144		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:145584029G>A	uc001eoc.1	+	10	1351	c.1260G>A	c.(1258-1260)CCG>CCA	p.P420P	NBPF10_uc001emp.3_Intron|PIAS3_uc001eod.1_Silent_p.P89P	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	420					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTTGCCCCCCGCCAGGGTATG	0.507													A	145584029	G	A	145584029	2	1	80	1	0	0	0	0	0	0	0	1	11877	1074	38	1		1	PIAS3	1	145584029	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1816288	145584029	103666592	50	53992											
TARS2	80222	broad.mit.edu	37	chr1	150460423	150460423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtaaagagattagcaagCatggcacagaaggaaccccg	12	9	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:150460423C>T	uc001euq.2	+	2	163	c.156C>T	c.(154-156)AGC>AGT	p.S52S	TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Silent_p.S52S|TARS2_uc009wlt.2_5'UTR|TARS2_uc009wls.2_Silent_p.S52S	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	52					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GATTAGCAAGCATGGCACAGA	0.547													T	150460423	C	T	150460423	2	4	80	1	0	0	0	0	0	0	0	1	15557	709	25	2		2	TARS2	1	150460423	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	4876394	150460423	98790198	51	53993											
SELENBP1	8991	broad.mit.edu	37	chr1	151338267	151338267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatttcgggcagcagccagCccttcactttcttggggggc	13	13	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:151338267C>T	uc001exx.2	-	8	946	c.899G>A	c.(898-900)GGC>GAC	p.G300D	SELENBP1_uc010pcy.1_Missense_Mutation_p.G342D|SELENBP1_uc001exy.2_Missense_Mutation_p.G197D|SELENBP1_uc001exz.2_Missense_Mutation_p.G197D|SELENBP1_uc010pcz.1_Missense_Mutation_p.G238D|SELENBP1_uc009wms.2_Missense_Mutation_p.G136D|SELENBP1_uc009wmt.2_Missense_Mutation_p.G197D|SELENBP1_uc001eya.2_Missense_Mutation_p.G236D|SELENBP1_uc009wmu.2_Missense_Mutation_p.G197D	NM_003944	NP_003935	Q13228	SBP1_HUMAN	selenium binding protein 1	300					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding				0	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCAGCCAGCCCTTCACTTT	0.567													T	151338267	C	T	151338267	3	4	80	1	0	0	0	0	1	0	0	0	14014	739	26	2	539	2	SELENBP1	1	151338267	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	877844	151338267	97912354	52	53994											
POGZ	23126	broad.mit.edu	37	chr1	151400802	151400802	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttggtggtgggcctcacaGgcattgtggagcctggcctc	16	10	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:151400802G>T	uc001eyd.1	-	6	962	c.656C>A	c.(655-657)CCT>CAT	p.P219H	POGZ_uc001eye.1_Missense_Mutation_p.P166H|POGZ_uc010pdb.1_Missense_Mutation_p.P219H|POGZ_uc001eyf.1_Missense_Mutation_p.P166H|POGZ_uc010pdc.1_Missense_Mutation_p.P166H|POGZ_uc009wmv.1_Missense_Mutation_p.P124H|POGZ_uc010pdd.1_Intron|POGZ_uc001eyg.1_Missense_Mutation_p.P219H	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	219					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGCCTCACAGGCATTGTGGA	0.567													T	151400802	G	T	151400802	3	4	80	1	0	0	0	0	1	0	0	0	12186	1000	35	5	3646	5	POGZ	1	151400802	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	62535	151400802	97849819	53	53995											
TCHH	7062	broad.mit.edu	37	chr1	152080396	152080396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttctgtcgcgctcctggCggcgcagctgctgttcttcc	11	14	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:152080396C>T	uc001ezp.2	-	2	5297	c.5297G>A	c.(5296-5298)CGC>CAC	p.R1766H	TCHH_uc009wne.1_Missense_Mutation_p.R1766H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1766	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGCTCCTGGCGGCGCAGCTG	0.587													T	152080396	C	T	152080396	3	4	80	1	0	0	0	0	1	0	0	0	15697	768	27	1	538	1	TCHH	1	152080396	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	679594	152080396	97170225	54	53996											
HRNR	388697	broad.mit.edu	37	chr1	152188175	152188175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagactcatatgggccaCggctggaagaccaccctgag	12	13	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:152188175C>T	uc001ezt.1	-	3	6006	c.5930G>A	c.(5929-5931)CGT>CAT	p.R1977H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1977	22.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATATGGGCCACGGCTGGAAGA	0.602													T	152188175	C	T	152188175	3	4	80	1	0	0	0	0	1	0	0	0	7359	536	19	1	2626	1	HRNR	1	152188175	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	107779	152188175	97062446	55	53997											
FLG	2312	broad.mit.edu	37	chr1	152285028	152285028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccctgaccggtcacgtgcGgactcttggtggctctgctg	13	14	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:152285028G>A	uc001ezu.1	-	3	2370	c.2334C>T	c.(2332-2334)TCC>TCT	p.S778S	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	778	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTCACGTGCGGACTCTTGGT	0.567									Ichthyosis				A	152285028	G	A	152285028	2	1	80	1	0	0	0	0	0	0	0	1	5922	1103	39	1		1	FLG	1	152285028	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	96853	152285028	96965593	56	53998											
SPRR1B	6699	broad.mit.edu	37	chr1	153004968	153004968	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaggtgcctgagccctgCcaccccaaagtgcccgagcc	10	19	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:153004968C>T	uc001fba.2	+	2	211	c.147C>T	c.(145-147)TGC>TGT	p.C49C	SPRR1B_uc009wnx.1_RNA	NM_003125	NP_003116	P22528	SPR1B_HUMAN	small proline-rich protein 1B	49	6 X 8 AA approximate tandem repeats.|3.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(1)	1	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGAGCCCTGCCACCCCAAAG	0.632													T	153004968	C	T	153004968	2	4	80	1	0	0	0	0	0	0	0	1	15095	747	26	2		2	SPRR1B	1	153004968	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	719940	153004968	96245653	57	53999											
RAG1AP1	55974	broad.mit.edu	37	chr1	155108811	155108811	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcgaatgacccggagtgtGgacaacgtccagttcctgcc	12	12	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:155108811G>T	uc001fhj.3	+	2	217	c.117G>T	c.(115-117)GTG>GTT	p.V39V	RAG1AP1_uc010pey.1_RNA|RAG1AP1_uc001fhk.3_Nonsense_Mutation_p.G26*|RAG1AP1_uc001fhl.3_Silent_p.V39V	NM_018845	NP_061333	Q9BRV3	SWET1_HUMAN	recombination activating gene 1 activating	39	MtN3/slv 1.				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity				0	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCGGAGTGTGGACAACGTCC	0.647													T	155108811	G	T	155108811	2	4	80	1	0	0	0	0	0	0	0	1	13004	1349	47	5		5	RAG1AP1	1	155108811	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2103843	155108811	94141810	58	54000											
DPM3	54344	broad.mit.edu	37	chr1	155112444	155112444	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggggttaggctgtcagaaGcgcagccccctgcgggctaa	15	11	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:155112444G>A	uc001fhn.2	-	2	308	c.273C>T	c.(271-273)CGC>CGT	p.R91R	RAG1AP1_uc010pey.1_Intron|DPM3_uc001fhm.2_Silent_p.R121R	NM_153741	NP_714963	Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase	91					C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|integral to endoplasmic reticulum membrane	protein binding				0	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGTCAGAAGCGCAGCCCCC	0.552													A	155112444	G	A	155112444	2	1	80	1	0	0	0	0	0	0	0	1	4726	958	34	2		2	DPM3	1	155112444	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	3633	155112444	94138177	59	54001											
CLK2	1196	broad.mit.edu	37	chr1	155233068	155233068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcggctcagcccgaaggcGggcgaagaaaggatgctgaa	18	9	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:155233068G>A	uc001fjy.2	-	13	1731	c.1441C>T	c.(1441-1443)CGC>TGC	p.R481C	RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjr.2_5'Flank|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Missense_Mutation_p.R480C|CLK2_uc001fjx.2_Missense_Mutation_p.R253C|CLK2_uc009wqm.2_Missense_Mutation_p.R481C	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	481						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCCGAAGGCGGGCGAAGAAA	0.567								Other_conserved_DNA_damage_response_genes					A	155233068	G	A	155233068	3	1	80	1	0	0	0	0	1	0	0	0	3537	1116	39	1	62	1	CLK2	1	155233068	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	120624	155233068	94017553	60	54002											
ASH1L	55870	broad.mit.edu	37	chr1	155448699	155448699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaaactattaaagttgattCgaaagatagttggcagaaga	10	3	0	5			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:155448699C>T	uc009wqq.2	-	3	4442	c.3962G>A	c.(3961-3963)CGA>CAA	p.R1321Q	ASH1L_uc001fkt.2_Missense_Mutation_p.R1321Q|ASH1L_uc009wqr.1_Missense_Mutation_p.R1321Q	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1321					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AAAGTTGATTCGAAAGATAGT	0.408													T	155448699	C	T	155448699	3	4	80	1	0	0	0	0	1	0	0	0	1041	884	31	1	5036	1	ASH1L	1	155448699	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	215631	155448699	93801922	61	54003											
ISG20L2	81875	broad.mit.edu	37	chr1	156694023	156694024	+	Frame_Shift_Ins	INS	-	-	G													cagtcagccttccggttgagINSgggggggatatgggaggtgt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:156694022_156694023A>AG	uc001fps.1	-	1	1126_1127	c.865_866T>CT	c.(865-867)ctcfs	p.L289fs	ISG20L2_uc001fpt.1_Frame_Shift_Ins_p.L289fs	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	Homo sapiens interferon stimulated exonuclease gene 20kDa-like 2 (ISG20L2), mRNA.	289	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCGGTTGAGGGGGGGGATA	0.559													G	156694024	-	G	156694023	7	5	80	1	0	1	1	0	0	0	0	0	7855	1000	35	0	204	0	ISG20L2	1	156694023	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	1245324	156694023	92556598	62	54004											
CD5L	922	broad.mit.edu	37	chr1	157804523	157804523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccctctgggactggggagAaagagctctctgggtctgag	15	10	3	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:157804523A>G	uc001frk.3	-	4	535	c.392T>C	c.(391-393)TTC>TCC	p.F131S		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	131					apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GACTGGGGAGAAAGAGCTCTC	0.572													G	157804523	A	G	157804523	3	3	80	1	0	0	0	0	1	0	0	0	3027	246	9	3	663	3	CD5L	1	157804523	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	1110500	157804523	91446098	63	54005											
SPTA1	6708	broad.mit.edu	37	chr1	158609686	158609686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccagaactcaaagtcccGgatgcttgtgttgaacctct	10	11	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:158609686G>A	uc001fst.1	-	34	5048	c.4849C>T	c.(4849-4851)CGG>TGG	p.R1617W		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1617	Spectrin 16.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCAAAGTCCCGGATGCTTGTG	0.448													A	158609686	G	A	158609686	3	1	80	1	0	0	0	0	1	0	0	0	15115	1115	39	1	2486	1	SPTA1	1	158609686	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	805163	158609686	90640935	64	54006											
KCNJ9	3765	broad.mit.edu	37	chr1	160053937	160053937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagcagggcaacgtgcgCgagacataccgctacctgac	13	13	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:160053937C>T	uc001fuy.1	+	2	359	c.117C>T	c.(115-117)CGC>CGT	p.R39R		NM_004983	NP_004974	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel subfamily	39	Cytoplasmic (By similarity).				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			ovary(1)|skin(1)	2	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAACGTGCGCGAGACATACC	0.582													T	160053937	C	T	160053937	2	4	80	1	0	0	0	0	0	0	0	1	8057	755	27	1		1	KCNJ9	1	160053937	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1444251	160053937	89196684	65	54007											
FCRLB	127943	broad.mit.edu	37	chr1	161697260	161697260	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgacgcccttggaacaatcGgctggagccctgaaacccga	11	15	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:161697260G>A	uc001gbh.2	+	8	1323	c.1089G>A	c.(1087-1089)TCG>TCA	p.S363S	FCRLB_uc009wus.2_Silent_p.S363S|FCRLB_uc001gbj.2_Missense_Mutation_p.R315Q|FCRLB_uc001gbk.2_3'UTR|FCRLB_uc001gbl.2_Missense_Mutation_p.R308Q|FCRLB_uc001gbm.2_3'UTR|FCRLB_uc001gbi.2_Silent_p.S363S|FCRLB_uc001gbn.3_3'UTR	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	363						endoplasmic reticulum					0	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TGGAACAATCGGCTGGAGCCC	0.672													A	161697260	G	A	161697260	2	1	80	1	0	0	0	0	0	0	0	1	5801	1103	39	1		1	FCRLB	1	161697260	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1643323	161697260	87553361	66	54008											
MGST3	4259	broad.mit.edu	37	chr1	165624622	165624622	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaacccagcaagcgtagtCgaggagccctggggtccatc	13	13	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:165624622C>T	uc001gdf.2	+	6	428	c.340C>T	c.(340-342)CGA>TGA	p.R114*	MGST3_uc001gdg.2_Nonsense_Mutation_p.R128*	NM_004528	NP_004519	O14880	MGST3_HUMAN	microsomal glutathione S-transferase 3	114					leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glutathione peroxidase activity|glutathione transferase activity				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	CAAGCGTAGTCGAGGAGCCCT	0.512													T	165624622	C	T	165624622	4	4	80	1	0	0	0	0	0	1	0	0	9562	876	31	1	358	1	MGST3	1	165624622	Nonsense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3927362	165624622	83625999	67	54009											
SLC19A2	10560	broad.mit.edu	37	chr1	169446550	169446552	+	In_Frame_Del	DEL	AAG	AAG	-													aggtagaaggaatgtggtgaAagaagaggctcttctgtggc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:169446550_169446552delAAG	uc001gge.3	-	2	852_854	c.648_650delCTT	c.(646-651)TTCTTT>TTT	p.216_217FF>F	SLC19A2_uc001ggf.3_Intron	NM_006996	NP_008927	O60779	S19A2_HUMAN	solute carrier family 19, member 2	216_217	Cytoplasmic (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity				0	all_hematologic(923;0.208)					AATGTGGTGAAAGAAGAGGCTCT	0.498													-	169446552	AAG	-	169446550	7	5	80	1	0	1	0	1	0	0	0	0	14429	14	1	0	863	0	SLC19A2	1	169446550	In_Frame_Del	DEL	AAG	TCGA-BR-8368-01A-11D-2340-08	3821928	169446550	79804071	68	54010											
SCYL3	57147	broad.mit.edu	37	chr1	169828337	169828337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatggaatcgctagtatcaCgcaggcccagcaaaacctag	9	12	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:169828337C>T	uc001ggs.2	-	11	1355	c.1157G>A	c.(1156-1158)CGT>CAT	p.R386H	SCYL3_uc010plw.1_Missense_Mutation_p.R32H|SCYL3_uc001ggt.2_Missense_Mutation_p.R386H|SCYL3_uc001ggu.2_RNA	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	386	HEAT 4.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTAGTATCACGCAGGCCCAG	0.488													T	169828337	C	T	169828337	3	4	80	1	0	0	0	0	1	0	0	0	13949	536	19	1	1087	1	SCYL3	1	169828337	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	381787	169828337	79422284	69	54011											
TNN	63923	broad.mit.edu	37	chr1	175049336	175049336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagctgctcaagaacacGgaggattctctgctggtgag	13	10	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:175049336G>A	uc001gkl.1	+	4	935	c.822G>A	c.(820-822)ACG>ACA	p.T274T	TNN_uc010pmx.1_Silent_p.T274T	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	274	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TCAAGAACACGGAGGATTCTC	0.617													A	175049336	G	A	175049336	2	1	80	1	0	0	0	0	0	0	0	1	16320	1103	39	1		1	TNN	1	175049336	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	5220999	175049336	74201285	70	54012											
TNR	7143	broad.mit.edu	37	chr1	175355234	175355234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacggcactgactgacacctCgtatcgggagccaggccgca	13	14	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:175355234C>T	uc001gkp.1	-	6	1792	c.1711G>A	c.(1711-1713)GAG>AAG	p.E571K	TNR_uc009wwu.1_Missense_Mutation_p.E571K	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	571	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					ACTGACACCTCGTATCGGGAG	0.637													T	175355234	C	T	175355234	3	4	80	1	0	0	0	0	1	0	0	0	16335	893	31	1	2429	1	TNR	1	175355234	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	305898	175355234	73895387	71	54013											
RFWD2	64326	broad.mit.edu	37	chr1	175956141	175956141	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttgtatcatcttcttttcGgtctttgtcgagaacacttt	6	8	4	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:175956141G>A	uc001gku.1	-	18	2327	c.2071C>T	c.(2071-2073)CGA>TGA	p.R691*	RFWD2_uc001gkv.1_Nonsense_Mutation_p.R667*|RFWD2_uc001gkw.1_Nonsense_Mutation_p.R451*|RFWD2_uc009wwv.2_Nonsense_Mutation_p.R490*|RFWD2_uc001gkt.1_Nonsense_Mutation_p.R530*	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2 isoform a	691	WD 7.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						TCTTCTTTTCGGTCTTTGTCG	0.373													A	175956141	G	A	175956141	4	1	80	1	0	0	0	0	0	1	0	0	13260	1124	39	1	136	1	RFWD2	1	175956141	Nonsense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	600907	175956141	73294480	72	54014											
SEC16B	89866	broad.mit.edu	37	chr1	177927333	177927333	+	Frame_Shift_Del	DEL	G	G	-													tgcgcaggtgtctccacactGggggggatctctcccgtgag							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:177927332_177927332TG>T	uc001glj.1	-	14	2169	c.1303_1303CA>A	c.(1303-1305)agtfs	p.S435fs	SEC16B_uc001glk.1_Frame_Shift_Del_p.S111fs|SEC16B_uc001glh.1_Frame_Shift_Del_p.S93fs|SEC16B_uc001gli.1_Frame_Shift_Del_p.S434fs|SEC16B_uc009wwz.1_Frame_Shift_Del_p.S93fs|SEC16B_uc001gll.4_Frame_Shift_Del_p.S435fs	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	434					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GTCTCCACACTGGGGGGGATC	0.567													-	177927333	G	-	177927333	7	5	80	1	0	1	0	1	0	0	0	0	13987	1335	47	0	1951	0	SEC16B	1	177927333	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	1971192	177927333	71323288	73	54015											
TDRD5	163589	broad.mit.edu	37	chr1	179620047	179620047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagttccagaagttgtgcGgtttgaagccattagtgggg	15	6	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:179620047G>A	uc001gnf.1	+	12	2096	c.1846G>A	c.(1846-1848)GGT>AGT	p.G616S	TDRD5_uc010pnp.1_Missense_Mutation_p.G616S|TDRD5_uc001gnh.1_Missense_Mutation_p.G171S	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	616					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|skin(2)|central_nervous_system(1)	5						GAAGTTGTGCGGTTTGAAGCC	0.368													A	179620047	G	A	179620047	3	1	80	1	0	0	0	0	1	0	0	0	15730	1116	39	1	1888	1	TDRD5	1	179620047	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1692714	179620047	69630574	74	54016											
KIAA1614	57710	broad.mit.edu	37	chr1	180904705	180904705	+	Frame_Shift_Del	DEL	C	C	-													gccccgcccaggggaaggcgCcccccgtccccaggaccctc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:180904705delC	uc001gok.2	+	5	1727	c.1660delC	c.(1660-1662)CCCfs	p.P554fs	KIAA1614_uc001gol.1_Frame_Shift_Del_p.P175fs|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	554										ovary(3)|skin(1)	4						GGGGAAGGCGCCCCCCGTCCC	0.751													-	180904705	C	-	180904705	7	5	80	1	0	1	0	1	0	0	0	0	8248	739	26	0	1678	0	KIAA1614	1	180904705	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	1284658	180904705	68345916	75	54017											
CACNA1E	777	broad.mit.edu	37	chr1	181741306	181741306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcagaacgagaacgaacGctgcggcaccgatctggcct	14	12	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:181741306G>A	uc001gow.2	+	37	5243	c.5078G>A	c.(5077-5079)CGC>CAC	p.R1693H	CACNA1E_uc009wxs.2_Missense_Mutation_p.R1581H|CACNA1E_uc001gox.1_Missense_Mutation_p.R919H|CACNA1E_uc009wxt.2_Missense_Mutation_p.R919H	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1693	Extracellular (Potential).|IV.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						GAGAACGAACGCTGCGGCACC	0.557													A	181741306	G	A	181741306	3	1	80	1	0	0	0	0	1	0	0	0	2542	1087	38	1	5224	1	CACNA1E	1	181741306	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	836601	181741306	67509315	76	54018											
GLUL	2752	broad.mit.edu	37	chr1	182354926	182354926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacctcggcattagtccccGcaatcttgactccagcatac	7	15	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:182354926G>A	uc001gpa.1	-	5	784	c.572C>T	c.(571-573)GCG>GTG	p.A191V	GLUL_uc010pnt.1_5'Flank|GLUL_uc001gpb.1_Missense_Mutation_p.A191V|GLUL_uc001gpc.1_Missense_Mutation_p.A191V|GLUL_uc001gpd.1_Missense_Mutation_p.A191V	NM_001033056	NP_001028228	P15104	GLNA_HUMAN	glutamine synthetase	191					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding				0					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	ATTAGTCCCCGCAATCTTGAC	0.522													A	182354926	G	A	182354926	3	1	80	1	0	0	0	0	1	0	0	0	6478	1087	38	1	561	1	GLUL	1	182354926	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	613620	182354926	66895695	77	54019											
RGL1	23179	broad.mit.edu	37	chr1	183885736	183885736	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcggtgacgtccattacctcGactgtgctgcctcctgttta	9	13	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:183885736G>A	uc001gqo.2	+	16	2062	c.1905G>A	c.(1903-1905)TCG>TCA	p.S635S	RGL1_uc001gqm.2_Silent_p.S670S|RGL1_uc010pog.1_Silent_p.S633S|RGL1_uc010poh.1_Silent_p.S633S|RGL1_uc010poi.1_Silent_p.S606S	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	635					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|ovary(4)|lung(2)	11						CCATTACCTCGACTGTGCTGC	0.507													A	183885736	G	A	183885736	2	1	80	1	0	0	0	0	0	0	0	1	13276	1045	37	1		1	RGL1	1	183885736	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1530810	183885736	65364885	78	54020											
TPR	7175	broad.mit.edu	37	chr1	186326586	186326586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccccaagctctctaaggGccactaagagacgttgattt	8	11	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:186326586G>A	uc001grv.2	-	14	1964	c.1667C>T	c.(1666-1668)GCC>GTC	p.A556V	TPR_uc010pop.1_Missense_Mutation_p.A632V	NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	556	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTCTCTAAGGGCCACTAAGAG	0.378			T	NTRK1	papillary thyroid								A	186326586	G	A	186326586	3	1	80	1	0	0	0	0	1	0	0	0	16413	1203	42	2	5576	2	TPR	1	186326586	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2440850	186326586	62924035	79	54021											
C1orf27	54953	broad.mit.edu	37	chr1	186368101	186368101	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggcagtaaagagggatAtattgaacacagttgctgat	12	4	0	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:186368101A>G	uc001grw.2	+	11	1161	c.925A>G	c.(925-927)ATA>GTA	p.I309V	C1orf27_uc010poq.1_Missense_Mutation_p.I286V|C1orf27_uc010por.1_Missense_Mutation_p.I277V|OCLM_uc001gry.2_5'Flank	NM_017847	NP_060317	Q5SWX8	ODR4_HUMAN	odorant response abnormal 4 isoform 1	309						integral to membrane	oxidoreductase activity|zinc ion binding			ovary(1)	1						AAAGAGGGATATATTGAACAC	0.274													G	186368101	A	G	186368101	3	3	80	1	0	0	0	0	1	0	0	0	2036	449	16	3	963	3	C1orf27	1	186368101	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	41515	186368101	62882520	80	54022											
FAM5C	339479	broad.mit.edu	37	chr1	190067835	190067835	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttgacttgtacttattgctCttcaaggtgaggagcatccg	10	9	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:190067835C>T	uc001gse.1	-	8	1846	c.1614G>A	c.(1612-1614)AAG>AAA	p.K538K	FAM5C_uc010pot.1_Silent_p.K436K	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	538						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					ACTTATTGCTCTTCAAGGTGA	0.443													T	190067835	C	T	190067835	2	4	80	1	0	0	0	0	0	0	0	1	5594	912	32	4		4	FAM5C	1	190067835	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3699734	190067835	59182786	81	54023											
RGS21	431704	broad.mit.edu	37	chr1	192335245	192335245	+	Frame_Shift_Del	DEL	T	T	-													aatcataaaaaatggctcccTtttttgtgaggaaggtaaaa							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:192335244_192335244CT>C	uc001gsh.3	+	4	623	c.449_449CT>C	c.(448-450)cctfs	p.P150fs		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	150					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						AAATGGCTCCCTTTTTTGTGA	0.333													-	192335245	T	-	192335245	7	5	80	1	0	1	0	1	0	0	0	0	13304	1596	56	0	464	0	RGS21	1	192335245	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	2267410	192335245	56915376	82	54024											
KCNT2	343450	broad.mit.edu	37	chr1	196300297	196300297	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtacttaccttgtctaatcTtaagcagcaaaatggtactt	6	8	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:196300297T>G	uc001gtd.1	-	18	2152	c.2092A>C	c.(2092-2094)AGA>CGA	p.R698R	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.R648R|KCNT2_uc001gtf.1_Silent_p.R698R|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.R698R|KCNT2_uc001gth.1_Silent_p.R219R	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	698	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						TTGTCTAATCTTAAGCAGCAA	0.299													G	196300297	T	G	196300297	2	3	80	1	0	0	0	0	0	0	0	1	8092	1617	56	5		5	KCNT2	1	196300297	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	3965052	196300297	52950324	83	54025											
ZBTB41	360023	broad.mit.edu	37	chr1	197128758	197128758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgacgcactaggtcactcgGagtgtcaggcatctgaactg	12	10	3	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:197128758G>A	uc001gtx.1	-	10	2530	c.2461C>T	c.(2461-2463)CCG>TCG	p.P821S	ZBTB41_uc009wyz.1_RNA	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	821					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						AGGTCACTCGGAGTGTCAGGC	0.478													A	197128758	G	A	197128758	3	1	80	1	0	0	0	0	1	0	0	0	17540	1174	41	4	272	4	ZBTB41	1	197128758	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	828461	197128758	52121863	84	54026											
DENND1B	163486	broad.mit.edu	37	chr1	197509196	197509197	+	Frame_Shift_Ins	INS	-	-	T													aggtcccataatcttcttcaINSttttcctacacatgaaaaaa							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:197509196_197509197insT	uc010ppe.1	-	19	1690_1691	c.1352_1353insA	c.(1351-1353)AATfs	p.N451fs	DENND1B_uc010ppf.1_RNA	NM_001142795	NP_001136267	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B isoform 1	Error:Variant_position_missing_in_Q6P3S1_after_alignment						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0						AATCTTCTTCATTTTCCTACAC	0.312													T	197509197	-	T	197509196	7	5	80	1	0	1	1	0	0	0	0	0	4427	214	8	0	930	0	DENND1B	1	197509196	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	380438	197509196	51741425	85	54027	220	2									
DENND1B	163486	broad.mit.edu	37	chr1	197509197	197509198	+	Frame_Shift_Ins	INS	-	-	T													ggtcccataatcttcttcatINStttcctacacatgaaaaaat							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:197509196_197509197A>AT	uc021pgu.1	-	19	1750_1751	c.1412_1413T>AT	c.(1411-1413)aatfs	p.N471fs	DENND1B_uc010ppf.2_Non-coding_Transcript	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN	Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.	0						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						AATCTTCTTCATTTTCCTACAC	0.312													T	197509198	-	T	197509197	7	5	80	1	0	1	1	0	0	0	0	0	4427	1493	52	0	931	0	DENND1B	1	197509197	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	1	197509197	51741424	86	54028	220	2									
CACNA1S	779	broad.mit.edu	37	chr1	201022686	201022686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaacaggcggaagaaggcGctggagatgcgggcactctc	17	10	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:201022686G>A	uc001gvv.2	-	30	3923	c.3696C>T	c.(3694-3696)AGC>AGT	p.S1232S		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1232	IV.|Helical; Name=S4 of repeat IV; (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGAAGAAGGCGCTGGAGATGC	0.642													A	201022686	G	A	201022686	2	1	80	1	0	0	0	0	0	0	0	1	2547	1078	38	1		1	CACNA1S	1	201022686	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	3513489	201022686	48227935	87	54029											
IPO9	55705	broad.mit.edu	37	chr1	201817694	201817694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagcggagacttaaatgcCgtccatggagccatgcgtgt	14	9	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:201817694C>T	uc001gwz.2	+	4	536	c.486C>T	c.(484-486)GCC>GCT	p.A162A		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	162					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						ACTTAAATGCCGTCCATGGAG	0.532													T	201817694	C	T	201817694	2	4	80	1	0	0	0	0	0	0	0	1	7799	639	23	1		1	IPO9	1	201817694	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	795008	201817694	47432927	88	54030											
GPR37L1	9283	broad.mit.edu	37	chr1	202097070	202097070	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctggcacaggagcctgccCccaccatgggcaccctggac	12	17	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:202097070C>A	uc001gxj.2	+	2	895	c.832C>A	c.(832-834)CCC>ACC	p.P278T		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1 precursor	278	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2						GGAGCCTGCCCCCACCATGGG	0.617													A	202097070	C	A	202097070	3	1	80	1	0	0	0	0	1	0	0	0	6692	623	22	5	838	5	GPR37L1	1	202097070	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	279376	202097070	47153551	89	54031											
LGR6	59352	broad.mit.edu	37	chr1	202288157	202288157	+	Frame_Shift_Del	DEL	C	C	-													ctcctgtcagcagccaggggCccccaggctggagggcagcc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:202288156_202288156GC>G	uc001gxu.3	+	17	2725	c.2725_2725GC>G	c.(2725-2727)gccfs	p.A909fs	LGR6_uc001gxv.3_Frame_Shift_Del_p.A857fs|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Frame_Shift_Del_p.A770fs	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	909						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCAGCCAGGGGCCCCCAGGCT	0.622													-	202288157	C	-	202288157	7	5	80	1	0	1	0	1	0	0	0	0	8758	739	26	0	2943	0	LGR6	1	202288157	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	191087	202288157	46962464	90	54032											
PLEKHA6	22874	broad.mit.edu	37	chr1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-													aaggtcttcaggcgggggtaCcccccggcgcagattcaccc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:204228411delC	uc001hau.2	-	8	1299	c.982delG	c.(982-984)GTAfs	p.V328fs	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	328	Pro-rich.									ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCGGGGGTACCCCCCGGCGC	0.622													-	204228411	C	-	204228411	7	5	80	1	0	1	0	1	0	0	0	0	12060	507	18	0	2224	0	PLEKHA6	1	204228411	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	1940254	204228411	45022210	91	54033											
SLC45A3	85414	broad.mit.edu	37	chr1	205632446	205632446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagacagagtaggcctggCgacagtggtccgggtcccgg	16	11	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:205632446C>T	uc001hda.1	-	3	812	c.473G>A	c.(472-474)CGC>CAC	p.R158H	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'UTR|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	prostein	158					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)	ovary(2)|prostate(2)	4	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GTAGGCCTGGCGACAGTGGTC	0.637			T	ETV1|ETV5|ELK4|ERG	prostate 								T	205632446	C	T	205632446	3	4	80	1	0	0	0	0	1	0	0	0	14642	768	27	1	1200	1	SLC45A3	1	205632446	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1404035	205632446	43618175	92	54034											
CR2	1380	broad.mit.edu	37	chr1	207642044	207642044	+	Frame_Shift_Del	DEL	C	C	-													tcgggaaaatggagtgctgtCccccccacatgtgaaggtac							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:207642043_207642043TC>T	uc001hfw.3	+	2	736	c.617_617TC>T	c.(616-618)gtcfs	p.V206fs	CR2_uc001hfv.3_Frame_Shift_Del_p.V206fs|CR2_uc009xch.3_Frame_Shift_Del_p.V206fs|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACA	0.393													-	207642044	C	-	207642044	7	5	80	1	0	1	0	1	0	0	0	0	3842	842	30	0	628	0	CR2	1	207642044	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	2009598	207642044	41608577	93	54035											
LAMB3	3914	broad.mit.edu	37	chr1	209797293	209797295	+	In_Frame_Del	DEL	ACA	ACA	-													ctccaggtctctcggaagggAcaacgtctcctcctccaggg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:209797293_209797295delACA	uc001hhg.2	-	14	2417_2419	c.2027_2029delTGT	c.(2026-2031)TTGTCC>TCC	p.L676del	LAMB3_uc009xco.2_In_Frame_Del_p.L676del|LAMB3_uc001hhh.2_In_Frame_Del_p.L676del|LAMB3_uc010psl.1_RNA|hsa-mir-4260|MI0015859_5'Flank	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	676	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTCGGAAGGGACAACGTCTCCTC	0.507													-	209797295	ACA	-	209797293	7	5	80	1	0	1	0	1	0	0	0	0	8612	275	10	0	1525	0	LAMB3	1	209797293	In_Frame_Del	DEL	ACA	TCGA-BR-8368-01A-11D-2340-08	2155249	209797293	39453328	94	54036											
IRF6	3664	broad.mit.edu	37	chr1	209961960	209961960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatcaccagaaaacatctcGtagatcatccgagccactac	5	13	3	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:209961960G>A	uc001hhq.1	-	9	1472	c.1209C>T	c.(1207-1209)TAC>TAT	p.Y403Y	IRF6_uc010psm.1_Silent_p.Y308Y|IRF6_uc009xct.1_Silent_p.Y403Y	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6	403					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AAAACATCTCGTAGATCATCC	0.463										HNSCC(57;0.16)			A	209961960	G	A	209961960	2	1	80	1	0	0	0	0	0	0	0	1	7834	1140	40	1		1	IRF6	1	209961960	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	164667	209961960	39288661	95	54037											
SPATA17	128153	broad.mit.edu	37	chr1	217975157	217975157	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttacaaagaacaattcCgaagtgaaaatcctaagaaa	5	7	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:217975157C>T	uc001hlh.1	+	9	996	c.970C>T	c.(970-972)CGA>TGA	p.R324*	SPATA17_uc001hli.2_Nonsense_Mutation_p.R324*	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	324						cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGAACAATTCCGAAGTGAAAA	0.294													T	217975157	C	T	217975157	4	4	80	1	0	0	0	0	0	1	0	0	15001	644	23	1	1004	1	SPATA17	1	217975157	Nonsense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	8013197	217975157	31275464	96	54038											
TAF1A	9015	broad.mit.edu	37	chr1	222750877	222750877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggttgattaatatttcccGggaagacgtattttcaccat	8	7	1	2	rs148113527	by1000genomes	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:222750877G>A	uc009xdz.1	-	5	703	c.514C>T	c.(514-516)CGG>TGG	p.R172W	TAF1A_uc001hni.1_Missense_Mutation_p.R58W|TAF1A_uc001hnj.2_Missense_Mutation_p.R172W|TAF1A_uc001hnk.2_Missense_Mutation_p.R58W|TAF1A_uc010pur.1_Missense_Mutation_p.R172W	NM_139352	NP_647603	Q15573	TAF1A_HUMAN	TBP-associated factor 1A isoform 2	172					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding				0				GBM - Glioblastoma multiforme(131;0.0186)		AATATTTCCCGGGAAGACGTA	0.383													A	222750877	G	A	222750877	3	1	80	1	0	0	0	0	1	0	0	0	15516	1115	39	1	866	1	TAF1A	1	222750877	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	4775720	222750877	26499744	97	54039											
TP53BP2	7159	broad.mit.edu	37	chr1	223971921	223971923	+	In_Frame_Del	DEL	CTT	CTT	-													gatgattgtcatgcagtctcCttctttcatgggcagctcat							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:223971921_223971923delCTT	uc010pvb.1	-	17	3549_3551	c.3257_3259delAAG	c.(3256-3261)GAAGGA>GGA	p.E1086del	TP53BP2_uc001hod.2_In_Frame_Del_p.E957del|TP53BP2_uc010puz.1_In_Frame_Del_p.E319del|TP53BP2_uc010pva.1_In_Frame_Del_p.E725del	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	1080	Mediates interaction with APC2.|SH3.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		ATGCAGTCTCCTTCTTTCATGGG	0.438													-	223971923	CTT	-	223971921	7	5	80	1	0	1	0	1	0	0	0	0	16381	690	24	0	153	0	TP53BP2	1	223971921	In_Frame_Del	DEL	CTT	TCGA-BR-8368-01A-11D-2340-08	1221044	223971921	25278700	98	54040											
TP53BP2	7159	broad.mit.edu	37	chr1	223991931	223991931	+	Frame_Shift_Del	DEL	T	T	-													tggcctttaagtgctctcacTttttttagcttagcttcctg					rs146703239		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:223991930_223991930CT>C	uc001hod.3	-	6	1019	c.208_208AG>G	c.(208-210)gtgfs	p.V70fs	TP53BP2_uc010pvb.2_Frame_Shift_Del_p.V199fs|TP53BP2_uc010pva.2_5'Flank	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	193					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AGTGCTCTCACTTTTTTTAGC	0.378													-	223991931	T	-	223991931	7	5	80	1	0	1	0	1	0	0	0	0	16381	1606	56	0	2862	0	TP53BP2	1	223991931	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	20010	223991931	25258690	99	54041											
LBR	3930	broad.mit.edu	37	chr1	225598070	225598070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaaggatggaacagcgcGgtcctgtattttcatttcag	12	9	2	0	rs144672633	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:225598070G>A	uc001hoy.2	-	10	1380	c.1237C>T	c.(1237-1239)CGC>TGC	p.R413C	LBR_uc001hoz.2_Missense_Mutation_p.R413C|LBR_uc001hpa.1_Missense_Mutation_p.R413C	NM_002296	NP_002287	Q14739	LBR_HUMAN	lamin B receptor	413					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			ovary(1)|skin(1)	2	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GGAACAGCGCGGTCCTGTATT	0.348													A	225598070	G	A	225598070	3	1	80	1	0	0	0	0	1	0	0	0	8652	1116	39	1	630	1	LBR	1	225598070	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1606139	225598070	23652551	100	54042											
ACBD3	64746	broad.mit.edu	37	chr1	226349293	226349293	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctttcctcttcctcccgtcGaagcctttcctcttcttctc	3	19	4	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:226349293G>A	uc001hpy.2	-	4	714	c.667C>T	c.(667-669)CGA>TGA	p.R223*		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	acyl-Coenzyme A binding domain containing 3	223	Arg-rich.|Potential.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding				0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		tcctcccgtcgaagcctttcc	0.095													A	226349293	G	A	226349293	4	1	80	1	0	0	0	0	0	1	0	0	123	1066	37	1	939	1	ACBD3	1	226349293	Nonsense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	751223	226349293	22901328	101	54043											
PARP1	142	broad.mit.edu	37	chr1	226568840	226568840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgagtttctcaatcatgGccttcacttcatccttgttc	5	15	4	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:226568840G>A	uc001hqd.3	-	9	1400	c.1229C>T	c.(1228-1230)GCC>GTC	p.A410V		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	410	Automodification domain.|BRCT.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CTCAATCATGGCCTTCACTTC	0.493								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					A	226568840	G	A	226568840	3	1	80	1	0	0	0	0	1	0	0	0	11454	1203	42	2	1875	2	PARP1	1	226568840	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	219547	226568840	22681781	102	54044											
OBSCN	84033	broad.mit.edu	37	chr1	228509573	228509573	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgatgccttccgccgggctGcccgtcggctgcaccggctc	13	18	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:228509573G>T	uc009xez.1	+	55	15075	c.15031G>T	c.(15031-15033)GCC>TCC	p.A5011S	OBSCN_uc001hsn.2_Missense_Mutation_p.A5011S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5011					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CCGCCGGGCTGCCCGTCGGCT	0.637													T	228509573	G	T	228509573	3	4	80	1	0	0	0	0	1	0	0	0	10812	1319	46	5	15245	5	OBSCN	1	228509573	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1940733	228509573	20741048	103	54045											
ABCB10	23456	broad.mit.edu	37	chr1	229685004	229685004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtttgcatgaggtagacaCgaatggcattggcggcagca	14	7	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:229685004C>T	uc001htp.3	-	2	738	c.695G>A	c.(694-696)CGT>CAT	p.R232H		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	232	Mitochondrial intermembrane (Potential).|Helical; (Potential).|ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				GAGGTAGACACGAATGGCATT	0.527													T	229685004	C	T	229685004	3	4	80	1	0	0	0	0	1	0	0	0	41	536	19	1	1569	1	ABCB10	1	229685004	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1175431	229685004	19565617	104	54046											
DISC1	27185	broad.mit.edu	37	chr1	231902976	231902976	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcttgcacgtgtccatcacGagacgagactggcttcttca	10	12	3	2	rs144844117		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:231902976G>A	uc001huz.2	+	5	1412	c.1359G>A	c.(1357-1359)ACG>ACA	p.T453T	TSNAX-DISC1_uc010pwg.1_Silent_p.T442T|TSNAX-DISC1_uc010pwh.1_Silent_p.T408T|TSNAX-DISC1_uc010pwi.1_Silent_p.T408T|TSNAX-DISC1_uc010pwj.1_Silent_p.T442T|TSNAX-DISC1_uc010pwk.1_Silent_p.T442T|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwq.1_Silent_p.T453T|DISC1_uc010pwr.1_Silent_p.T453T|DISC1_uc010pws.1_Silent_p.T453T|DISC1_uc010pwt.1_Silent_p.T453T|DISC1_uc010pwu.1_Silent_p.T103T|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Silent_p.T453T|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Silent_p.T453T|DISC1_uc010pxb.1_Silent_p.T453T|DISC1_uc010pxc.1_Silent_p.T453T|DISC1_uc010pxd.1_Silent_p.T98T|DISC1_uc010pxe.1_Silent_p.T453T|DISC1_uc009xfr.2_Silent_p.T408T|DISC1_uc010pxf.1_Silent_p.T453T|DISC1_uc010pxg.1_Silent_p.T453T|DISC1_uc010pxh.1_Silent_p.T485T|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Silent_p.T98T|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Intron|DISC1_uc010pxn.1_Silent_p.T98T|DISC1_uc001hva.2_Silent_p.T453T	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	453	Potential.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with TRAF3IP1.|Required for localization to punctate cytoplasmic foci.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)				TGTCCATCACGAGACGAGACT	0.463													A	231902976	G	A	231902976	2	1	80	1	0	0	0	0	0	0	0	1	4538	1045	37	1		1	DISC1	1	231902976	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2217972	231902976	17347645	105	54047											
KIAA1383	54627	broad.mit.edu	37	chr1	232942451	232942451	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgacaagtcctgctcataTacatcctcacctagcctggt	7	13	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:232942451T>C	uc001hvh.2	+	1	1814	c.1682T>C	c.(1681-1683)ATA>ACA	p.I561T		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	hypothetical protein LOC54627	419										ovary(1)	1		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				CCTGCTCATATACATCCTCAC	0.418													C	232942451	T	C	232942451	3	2	80	1	0	0	0	0	1	0	0	0	8228	1406	49	3	1684	3	KIAA1383	1	232942451	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	1039475	232942451	16308170	106	54048											
KCNK1	3775	broad.mit.edu	37	chr1	233802686	233802686	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgggggattatgtgcctgGggaaggctacaatcaaaaat	13	7	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:233802686G>T	uc010pxo.1	+	2	869	c.701G>T	c.(700-702)GGG>GTG	p.G234V	KCNK1_uc001hvw.2_RNA|KCNK1_uc001hvx.2_RNA	NM_002245	NP_002236	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	234						voltage-gated potassium channel complex	inward rectifier potassium channel activity			central_nervous_system(1)	1		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TATGTGCCTGGGGAAGGCTAC	0.443													T	233802686	G	T	233802686	3	4	80	1	0	0	0	0	1	0	0	0	8058	1232	43	5	707	5	KCNK1	1	233802686	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	860235	233802686	15447935	107	54049											
NID1	4811	broad.mit.edu	37	chr1	236201453	236201453	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtatagccagcgacacagctGcagcagaagcccgtggcgta	13	12	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:236201453G>T	uc001hxo.2	-	5	1338	c.1236C>A	c.(1234-1236)TGC>TGA	p.C412*	NID1_uc009xgd.2_Nonsense_Mutation_p.C412*	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	412	EGF-like 1.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CGACACAGCTGCAGCAGAAGC	0.537													T	236201453	G	T	236201453	4	4	80	1	0	0	0	0	0	1	0	0	10414	1311	46	5	2571	5	NID1	1	236201453	Nonsense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2398767	236201453	13049168	108	54050											
RYR2	6262	broad.mit.edu	37	chr1	237936847	237936847	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagtgacttttattggtatTactctgggaaagatgttatt	9	3	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:237936847T>C	uc001hyl.1	+	87	11794	c.11674T>C	c.(11674-11676)TAC>CAC	p.Y3892H	RYR2_uc010pya.1_Missense_Mutation_p.Y307H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3892					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTATTGGTATTACTCTGGGAA	0.338													C	237936847	T	C	237936847	3	2	80	1	0	0	0	0	1	0	0	0	13769	1754	61	3	12020	3	RYR2	1	237936847	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	1735394	237936847	11313774	109	54051											
CNST	163882	broad.mit.edu	37	chr1	246755187	246755187	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttgggaaaggacaaaaaaaTtcctggaaaaagaagtccaa	9	6	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:246755187T>A	uc001ibp.2	+	2	701	c.323T>A	c.(322-324)ATT>AAT	p.I108N	CNST_uc001ibo.3_Missense_Mutation_p.I108N	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	108					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						GACAAAAAAATTCCTGGAAAA	0.398													A	246755187	T	A	246755187	3	1	80	1	0	0	0	0	1	0	0	0	3634	1493	52	5	325	5	CNST	1	246755187	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	8818340	246755187	2495434	110	54052											
OR2M7	391196	broad.mit.edu	37	chr1	248487774	248487774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggccactgaaaagatggCcaggaccagaaagaagagga	14	7	0	5			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:248487774C>T	uc010pzk.1	-	1	97	c.97G>A	c.(97-99)GCC>ACC	p.A33T		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAAAAGATGGCCAGGACCAGA	0.517													T	248487774	C	T	248487774	3	4	80	1	0	0	0	0	1	0	0	0	11014	739	26	2	844	2	OR2M7	1	248487774	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1732587	248487774	762847	111	54053											
COLEC11	78989	broad.mit.edu	37	chr2	3651971	3651971	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggcgttctaatcagccTggccttcctgtcactgctgc	12	13	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:3651971T>C	uc002qya.2	+	2	189	c.41T>C	c.(40-42)CTG>CCG	p.L14P	COLEC11_uc002qxz.2_5'UTR|COLEC11_uc002qyb.2_Missense_Mutation_p.L14P|COLEC11_uc002qyc.2_Missense_Mutation_p.L14P|COLEC11_uc010ewo.2_Missense_Mutation_p.L14P|COLEC11_uc010ewp.2_5'Flank|COLEC11_uc010ewq.2_5'Flank|COLEC11_uc010ewr.2_5'Flank|COLEC11_uc010ews.2_5'Flank	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	collectin sub-family member 11 isoform a	14						collagen	mannose binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CTAATCAGCCTGGCCTTCCTG	0.592													C	3651971	T	C	3651971	3	2	80	1	0	0	0	0	1	0	0	0	3711	1580	55	3	43	3	COLEC11	2	3651971	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08		3651971	239547402	112	54054											
RNF144A	9781	broad.mit.edu	37	chr2	7137076	7137076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatgaccacaacaaggtacCggcccacctgggacctggcc	11	16	0	1	rs151171616		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:7137076C>T	uc002qys.2	+	3	461	c.19C>T	c.(19-21)CGG>TGG	p.R7W	RNF144A_uc002qyt.2_Intron	NM_014746	NP_055561	P50876	R144A_HUMAN	ring finger protein 144	7						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			ovary(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		AACAAGGTACCGGCCCACCTG	0.597													T	7137076	C	T	7137076	3	4	80	1	0	0	0	0	1	0	0	0	13445	643	23	1	21	1	RNF144A	2	7137076	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3485105	7137076	236062297	113	54055											
GREB1	9687	broad.mit.edu	37	chr2	11759033	11759033	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgcaggctgctgctcagCggcccccctcaggtgagtgt	13	17	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:11759033C>T	uc002rbk.1	+	22	4332	c.4032C>T	c.(4030-4032)AGC>AGT	p.S1344S	GREB1_uc002rbp.1_Silent_p.S342S	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1344						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGCTGCTCAGCGGCCCCCCTC	0.726													T	11759033	C	T	11759033	2	4	80	1	0	0	0	0	0	0	0	1	6760	767	27	1		1	GREB1	2	11759033	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	4621957	11759033	231440340	114	54056											
LPIN1	23175	broad.mit.edu	37	chr2	11928551	11928551	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagcacccctcctcctggCaatgcaggccttccagaaac	8	17	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:11928551C>A	uc010yjn.1	+	12	1848	c.1574C>A	c.(1573-1575)GCA>GAA	p.A525E	LPIN1_uc010yjm.1_Missense_Mutation_p.A610E|LPIN1_uc002rbt.2_Missense_Mutation_p.A525E|LPIN1_uc010yjo.1_5'UTR	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	525					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CTCCTCCTGGCAATGCAGGCC	0.428													A	11928551	C	A	11928551	3	1	80	1	0	0	0	0	1	0	0	0	8918	710	25	5	1612	5	LPIN1	2	11928551	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	169518	11928551	231270822	115	54057											
NBAS	51594	broad.mit.edu	37	chr2	15493765	15493765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaagccatgagctcttgaCgagtggccaagtcctggtaa	11	10	1	2	rs140188229		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:15493765C>T	uc002rcc.1	-	34	4027	c.4001G>A	c.(4000-4002)CGT>CAT	p.R1334H	NBAS_uc010exl.1_Missense_Mutation_p.R406H|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1334										ovary(2)|liver(1)|skin(1)	4						GAGCTCTTGACGAGTGGCCAA	0.453													T	15493765	C	T	15493765	3	4	80	1	0	0	0	0	1	0	0	0	10186	536	19	1	3190	1	NBAS	2	15493765	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3565214	15493765	227705608	116	54058											
APOB	338	broad.mit.edu	37	chr2	21225676	21225676	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctagtgtatatcccaggtttCcccggaaactggaatctggg	11	10	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:21225676C>T	uc002red.2	-	29	12746	c.12618G>A	c.(12616-12618)GGG>GGA	p.G4206G		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4206					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCCCAGGTTTCCCCGGAAACT	0.438													T	21225676	C	T	21225676	2	4	80	1	0	0	0	0	0	0	0	1	785	842	30	4		4	APOB	2	21225676	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	5731911	21225676	221973697	117	54059											
C2orf84	653140	broad.mit.edu	37	chr2	24398355	24398355	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggattctcctgtccatggcTgccaccaaaactgcgagtta	10	12	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:24398355T>C	uc002rfc.2	+	2	92	c.6T>C	c.(4-6)GCT>GCC	p.A2A	C2orf84_uc010eyc.2_RNA	NM_001040710	NP_001035800	Q86W67	CB084_HUMAN	hypothetical protein LOC653140	2											0						TGTCCATGGCTGCCACCAAAA	0.502													C	24398355	T	C	24398355	2	2	80	1	0	0	0	0	0	0	0	1	2199	1567	55	3		3	C2orf84	2	24398355	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	3172679	24398355	218801018	118	54060											
TTC27	55622	broad.mit.edu	37	chr2	33002975	33002975	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggttttctctcggttgTgcctatttggccttggaaga	13	7	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:33002975T>C	uc002rom.2	+	14	1938	c.1707T>C	c.(1705-1707)TGT>TGC	p.C569C	TTC27_uc010ymx.1_Silent_p.C519C|TTC27_uc002ron.2_RNA	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	569	HAT 1.|TPR 4.						protein binding			central_nervous_system(1)	1						CTCTCGGTTGTGCCTATTTGG	0.408													C	33002975	T	C	33002975	2	2	80	1	0	0	0	0	0	0	0	1	16692	1702	59	3		3	TTC27	2	33002975	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	8604620	33002975	210196398	119	54061											
STRN	6801	broad.mit.edu	37	chr2	37132704	37132704	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgagtagttgtcgacctTgtttccacattaactggctg	10	9	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:37132704T>C	uc002rpn.2	-	4	479	c.470A>G	c.(469-471)CAA>CGA	p.Q157R	STRN_uc010ezx.2_Missense_Mutation_p.Q157R	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	157	Calmodulin-binding (Potential).				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TTGTCGACCTTGTTTCCACAT	0.338													C	37132704	T	C	37132704	3	2	80	1	0	0	0	0	1	0	0	0	15328	1812	63	3	1932	3	STRN	2	37132704	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	4129729	37132704	206066669	120	54062											
CDC42EP3	10602	broad.mit.edu	37	chr2	37873629	37873629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggcgaaagtctccaagCgggggactgatcatatcagg	15	8	3	1	rs7560028		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:37873629C>T	uc002rqi.1	-	2	1095	c.102G>A	c.(100-102)CCG>CCA	p.P34P		NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN	Cdc42 effector protein 3	34	CRIB.				regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding				0		all_hematologic(82;0.172)				AGTCTCCAAGCGGGGGACTGA	0.463													T	37873629	C	T	37873629	2	4	80	1	0	0	0	0	0	0	0	1	3077	755	27	1		1	CDC42EP3	2	37873629	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	740925	37873629	205325744	121	54063											
CYP1B1	1545	broad.mit.edu	37	chr2	38298186	38298186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagctggatcaaagttctcCgggttaggccacttcactgg	12	11	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:38298186C>T	uc002rqo.2	-	4	1714	c.1311G>A	c.(1309-1311)CCG>CCA	p.P437P		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B,	437					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			ovary(1)|central_nervous_system(1)	2		all_hematologic(82;0.21)			Estrone(DB00655)	CAAAGTTCTCCGGGTTAGGCC	0.507													T	38298186	C	T	38298186	2	4	80	1	0	0	0	0	0	0	0	1	4151	639	23	1		1	CYP1B1	2	38298186	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	424557	38298186	204901187	122	54064											
OXER1	165140	broad.mit.edu	37	chr2	42990345	42990345	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtccagggatcggcaggcGgacagccagaaagccaccat	14	12	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:42990345G>A	uc002rss.2	-	1	1057	c.975C>T	c.(973-975)TCC>TCT	p.S325S		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	G-protein coupled receptor TG1019	325	Extracellular (Potential).				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)	1						ATCGGCAGGCGGACAGCCAGA	0.597													A	42990345	G	A	42990345	2	1	80	1	0	0	0	0	0	0	0	1	11331	1103	39	1		1	OXER1	2	42990345	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	4692159	42990345	200209028	123	54065											
PREPL	9581	broad.mit.edu	37	chr2	44550553	44550553	+	Splice_Site	DEL	A	A	-													aacatccaagaaaggtgcctAaaaaaaaggcaaagaaactt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:44550552_44550552TA>T	uc002ruf.3	-	11	2706	c.1747_splice	c.e11-1	p.A583_splice	PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	583					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAAAGGTGCCTAAAAAAAAGG	0.333													-	44550553	A	-	44550553	8	5	80	1	0	1	0	1	0	0	1	0	12475	377	13	0		0	PREPL	2	44550553	Splice_Site	DEL	A	TCGA-BR-8368-01A-11D-2340-08	1560208	44550553	198648820	124	54066											
PRKCE	5581	broad.mit.edu	37	chr2	46386829	46386830	+	Frame_Shift_Del	DEL	AA	AA	-													tcaagcagcacccattcttcAaagagattgactgggtgctc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:46386829_46386830delAA	uc002rut.2	+	14	2202_2203	c.2005_2006delAA	c.(2005-2007)AAAfs	p.K669fs		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	669	AGC-kinase C-terminal.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CCCATTCTTCAAAGAGATTGAC	0.559													-	46386830	AA	-	46386829	7	5	80	1	0	1	0	1	0	0	0	0	12511	131	5	0	2059	0	PRKCE	2	46386829	Frame_Shift_Del	DEL	AA	TCGA-BR-8368-01A-11D-2340-08	1836276	46386829	196812544	125	54067											
SOCS5	9655	broad.mit.edu	37	chr2	46986977	46986977	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	attgagcagtggaatcacaaCtttagtttcgacgcccatga	9	9	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:46986977C>G	uc002rvf.2	+	2	1472	c.1308C>G	c.(1306-1308)AAC>AAG	p.N436K	SOCS5_uc010yoe.1_Missense_Mutation_p.N405K|SOCS5_uc002rvg.2_Missense_Mutation_p.N436K	NM_014011	NP_054730	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	436	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					ovary(1)|lung(1)|central_nervous_system(1)	3		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GGAATCACAACTTTAGTTTCG	0.478													G	46986977	C	G	46986977	3	3	80	1	0	0	0	0	1	0	0	0	14917	564	20	5	1310	5	SOCS5	2	46986977	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	600148	46986977	196212396	126	54068											
ASB3	51130	broad.mit.edu	37	chr2	53927569	53927569	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaaaaagtagcgaaatatCgaaaacttctcgtacttcag	6	9	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:53927569C>T	uc002rxg.1	-	8	1212	c.1077G>A	c.(1075-1077)TCG>TCA	p.S359S	ASB3_uc002rxh.1_Silent_p.S286S|ASB3_uc002rxi.3_Silent_p.S397S|ASB3_uc002rxf.1_RNA	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	ankyrin repeat and SOCS box-containing protein 3	359	ANK 11.				intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGCGAAATATCGAAAACTTCT	0.363													T	53927569	C	T	53927569	2	4	80	1	0	0	0	0	0	0	0	1	1024	871	31	1		1	ASB3	2	53927569	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	6940592	53927569	189271804	127	54069											
RTN4	57142	broad.mit.edu	37	chr2	55254522	55254522	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcggctgagagaggagacAgagaaggaagagaagcagca	17	5	0	5			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:55254522A>G	uc002rye.2	-	3	1011	c.713T>C	c.(712-714)CTG>CCG	p.L238P	RTN4_uc002ryd.2_Missense_Mutation_p.L32P|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	238	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3						GAGAGGAGACAGAGAAGGAAG	0.433													G	55254522	A	G	55254522	3	3	80	1	0	0	0	0	1	0	0	0	13728	188	7	3	2931	3	RTN4	2	55254522	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	1326953	55254522	187944851	128	54070											
PELI1	57162	broad.mit.edu	37	chr2	64331929	64331931	+	In_Frame_Del	DEL	CTT	CTT	-													aagcaaacctacttttcctcCttcctctatcgccatttggg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:64331929_64331931delCTT	uc002scs.3	-	2	4144_4146	c.105_107delAAG	c.(103-108)GGAAGG>GGG	p.R37del	PELI1_uc002sct.3_In_Frame_Del_p.R37del|PELI1_uc002scu.1_RNA	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	pellino protein	37					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				ovary(1)	1						ACTTTTCCTCCTTCCTCTATCGC	0.414													-	64331931	CTT	-	64331929	7	5	80	1	0	1	0	1	0	0	0	0	11721	681	24	0	1169	0	PELI1	2	64331929	In_Frame_Del	DEL	CTT	TCGA-BR-8368-01A-11D-2340-08	9077407	64331929	178867444	129	54071											
HSPC159	29094	broad.mit.edu	37	chr2	64685463	64685463	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtttccgagtgtttgtggaTggacaccaactttttgattt	10	7	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:64685463T>C	uc002scy.3	+	5	773	c.420T>C	c.(418-420)GAT>GAC	p.D140D		NM_014181	NP_054900	Q3ZCW2	LEGL_HUMAN	galectin-related protein	140	Galectin.					intracellular	sugar binding				0						TGTTTGTGGATGGACACCAAC	0.398													C	64685463	T	C	64685463	2	2	80	1	0	0	0	0	0	0	0	1	7427	1461	51	3		3	HSPC159	2	64685463	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	353534	64685463	178513910	130	54072											
PPP3R1	5534	broad.mit.edu	37	chr2	68413787	68413787	+	Splice_Site	DEL	A	A	-													catagatacggaaagcaactAaaaaaaaggaaggaaaatca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:68413786_68413786TA>T	uc002sei.1	-	5	673	c.281_splice	c.e5-1	p.F94_splice		NM_000945	NP_000936	P63098	CANB1_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, alpha (PPP3R1), mRNA.	94	EF-hand 3.				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding			large_intestine(1)	1					Pimecrolimus(DB00337)	GGAAAGCAACTAAAAAAAAGG	0.328													-	68413787	A	-	68413787	8	5	80	1	0	1	0	1	0	0	1	0	12400	377	13	0		0	PPP3R1	2	68413787	Splice_Site	DEL	A	TCGA-BR-8368-01A-11D-2340-08	3728324	68413787	174785586	131	54073											
GFPT1	2673	broad.mit.edu	37	chr2	69577301	69577301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgagagagattgcagcttcCtttcttgtctttgcctaaag	9	9	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:69577301C>T	uc002sfh.2	-	9	879	c.700G>A	c.(700-702)GGA>AGA	p.G234R	GFPT1_uc002sfi.1_Missense_Mutation_p.G94R	NM_002056	NP_002047	Q06210	GFPT1_HUMAN	glucosamine-fructose-6-phosphate	252	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			skin(1)	1						TTGCAGCTTCCTTTCTTGTCT	0.388													T	69577301	C	T	69577301	3	4	80	1	0	0	0	0	1	0	0	0	6345	690	24	4	1389	4	GFPT1	2	69577301	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1163514	69577301	173622072	132	54074											
ANXA4	307	broad.mit.edu	37	chr2	70033528	70033528	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattgcaggacttgatagaCgacctgaagtcagaactgag	12	8	1	5	rs148077345	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:70033528C>T	uc002sfr.3	+	5	431	c.204C>T	c.(202-204)GAC>GAT	p.D68D	ANXA4_uc010yqn.1_RNA|ANXA4_uc002sfs.3_Silent_p.D68D|ANXA4_uc010yqo.1_Translation_Start_Site	NM_001153	NP_001144	P09525	ANXA4_HUMAN	annexin IV	66	Annexin 1.				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity				0						ACTTGATAGACGACCTGAAGT	0.403													T	70033528	C	T	70033528	2	4	80	1	0	0	0	0	0	0	0	1	720	535	19	1		1	ANXA4	2	70033528	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	456227	70033528	173165845	133	54075											
PCYOX1	51449	broad.mit.edu	37	chr2	70502205	70502205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaacacttcttgaaaccttGcaaaaggccggcttttctga	8	11	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:70502205G>A	uc002sgn.3	+	4	675	c.609G>A	c.(607-609)TTG>TTA	p.L203L	PCYOX1_uc010fdo.2_Silent_p.L126L|PCYOX1_uc010yqu.1_Silent_p.L185L	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1 precursor	203					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			central_nervous_system(1)	1						TTGAAACCTTGCAAAAGGCCG	0.428													A	70502205	G	A	70502205	2	1	80	1	0	0	0	0	0	0	0	1	11608	1310	46	2		2	PCYOX1	2	70502205	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	468677	70502205	172697168	134	54076											
ZNF638	27332	broad.mit.edu	37	chr2	71576560	71576560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacctagaagaacttagtcGctatcctgatgaacaactaa	7	9	0	5			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:71576560G>A	uc002shx.2	+	2	795	c.476G>A	c.(475-477)CGC>CAC	p.R159H	ZNF638_uc010fec.2_Missense_Mutation_p.R265H|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.R159H|ZNF638_uc002shy.2_Missense_Mutation_p.R159H|ZNF638_uc002shz.2_Missense_Mutation_p.R159H|ZNF638_uc002sia.2_Missense_Mutation_p.R159H|ZNF638_uc002sib.1_Missense_Mutation_p.R159H	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	159					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						GAACTTAGTCGCTATCCTGAT	0.398													A	71576560	G	A	71576560	3	1	80	1	0	0	0	0	1	0	0	0	18052	1087	38	1	478	1	ZNF638	2	71576560	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1074355	71576560	171622813	135	54077											
CCT7	10574	broad.mit.edu	37	chr2	73477497	73477497	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcattctccgtggcggcgcCgagcagtttatggaggagac	14	10	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:73477497C>T	uc002siz.2	+	10	1236	c.1134C>T	c.(1132-1134)GCC>GCT	p.A378A	CCT7_uc002sja.2_Silent_p.A174A|CCT7_uc010yrf.1_Silent_p.A334A|CCT7_uc010feu.2_Silent_p.A336A|CCT7_uc010yrg.1_Silent_p.A278A|CCT7_uc010yrh.1_Silent_p.A250A|CCT7_uc010yri.1_Silent_p.A291A	NM_006429	NP_006420	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 isoform a	378					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding				0						GTGGCGGCGCCGAGCAGTTTA	0.522													T	73477497	C	T	73477497	2	4	80	1	0	0	0	0	0	0	0	1	2959	639	23	1		1	CCT7	2	73477497	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1900937	73477497	169721876	136	54078											
KDM3A	55818	broad.mit.edu	37	chr2	86669239	86669239	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctcagtctgtccgcagcCgacggcagcgatggcagcca	12	14	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:86669239C>T	uc002sri.3	+	2	396	c.69C>T	c.(67-69)GCC>GCT	p.A23A	KDM3A_uc010ytj.1_Silent_p.A23A|KDM3A_uc010ytk.1_Silent_p.A23A	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	23					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						TGTCCGCAGCCGACGGCAGCG	0.637													T	86669239	C	T	86669239	2	4	80	1	0	0	0	0	0	0	0	1	8126	639	23	1		1	KDM3A	2	86669239	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	13191742	86669239	156530134	137	54079											
KDM3A	55818	broad.mit.edu	37	chr2	86705071	86705071	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcgacaccaccatcttcAacctgcactgggtgtgtcct	9	14	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:86705071A>G	uc002sri.3	+	13	2338	c.2011A>G	c.(2011-2013)AAC>GAC	p.N671D	KDM3A_uc010ytj.1_Missense_Mutation_p.N671D|KDM3A_uc010ytk.1_Missense_Mutation_p.N619D	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	671	C6-type (Potential).				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						CACCATCTTCAACCTGCACTG	0.478													G	86705071	A	G	86705071	3	3	80	1	0	0	0	0	1	0	0	0	8126	130	5	3	2057	3	KDM3A	2	86705071	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	35832	86705071	156494302	138	54080											
TEKT4	150483	broad.mit.edu	37	chr2	95537341	95537341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatggcgcagacagtgcCgccctgcgagctgccctgca	12	17	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:95537341C>T	uc002stw.1	+	1	110	c.17C>T	c.(16-18)CCG>CTG	p.P6L	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	6					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3						CAGACAGTGCCGCCCTGCGAG	0.692													T	95537341	C	T	95537341	3	4	80	1	0	0	0	0	1	0	0	0	15752	652	23	1	19	1	TEKT4	2	95537341	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	8832270	95537341	147662032	139	54081											
CNGA3	1261	broad.mit.edu	37	chr2	98996645	98996645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaccttccaggctgtcgCgcctcatcttcttgctgcgc	9	16	4	0	rs77733216		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:98996645C>T	uc002syt.2	+	4	640	c.223C>T	c.(223-225)CGC>TGC	p.R75C	CNGA3_uc002syu.2_Missense_Mutation_p.R75C|CNGA3_uc010fij.2_Missense_Mutation_p.R79C	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	75					signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						CAGGCTGTCGCGCCTCATCTT	0.527													T	98996645	C	T	98996645	3	4	80	1	0	0	0	0	1	0	0	0	3598	768	27	1	233	1	CNGA3	2	98996645	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3459304	98996645	144202728	140	54082											
UNC50	25972	broad.mit.edu	37	chr2	99232795	99232795	+	Frame_Shift_Del	DEL	T	T	-													cattttgcattttatccagcTttttttcatcaaccgtaagt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:99232794_99232794CT>C	uc010yvl.2	+	3	811	c.577_577CT>C	c.(577-579)cttfs	p.L193fs	UNC50_uc002szc.4_Frame_Shift_Del_p.L176fs|UNC50_uc002szb.3_Frame_Shift_Del_p.L176fs	NM_014044	NP_054763	Q53HI1	UNC50_HUMAN	Homo sapiens unc-50 homolog (C. elegans) (UNC50), mRNA.	176					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						TTTTATCCAGCTTTTTTTCAT	0.413													-	99232795	T	-	99232795	7	5	80	1	0	1	0	1	0	0	0	0	16987	1609	56	0	537	0	UNC50	2	99232795	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	236150	99232795	143966578	141	54083											
POU3F3	5455	broad.mit.edu	37	chr2	105473199	105473199	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgcaagcgcaagaagcggAcctctatcgaggtgagcgtc	14	12	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:105473199A>G	uc010ywg.1	+	1	1231	c.1231A>G	c.(1231-1233)ACC>GCC	p.T411A		NM_006236	NP_006227	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	411	Homeobox.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			ovary(1)	1						CAAGAAGCGGACCTCTATCGA	0.657													G	105473199	A	G	105473199	3	3	80	1	0	0	0	0	1	0	0	0	12276	275	10	3	1233	3	POU3F3	2	105473199	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	6240404	105473199	137726174	142	54084											
RANBP2	5903	broad.mit.edu	37	chr2	109389413	109389413	+	Frame_Shift_Del	DEL	T	T	-													cgttaaaacttccacctacaTttttttgtggagtctgtagt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:109389413delT	uc002tem.3	+	23	8329	c.8203delT	c.(8203-8205)TTTfs	p.F2735fs		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	2735	Interaction with SUMO1.|2 X 50 AA approximate repeats.|2.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TCCACCTACATTTTTTTGTGG	0.358													-	109389413	T	-	109389413	7	5	80	1	0	1	0	1	0	0	0	0	13028	1493	52	0	8293	0	RANBP2	2	109389413	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	3916214	109389413	133809960	143	54085											
TMEM87B	84910	broad.mit.edu	37	chr2	112839024	112839024	+	Frame_Shift_Del	DEL	T	T	-													gttctggattgcagctgttaTttttttgggaatgcttgaaa							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:112839023_112839023AT>A	uc002thm.2	+	7	1135	c.766_766AT>A	c.(766-768)attfs	p.I256fs	TMEM87B_uc010fkg.2_Frame_Shift_Del_p.I239fs|TMEM87B_uc010fkh.2_3'UTR	NM_032824	NP_116213	Q96K49	TM87B_HUMAN	Homo sapiens transmembrane protein 87B (TMEM87B), mRNA.	256						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						TGCAGCTGTTATTTTTTTGGG	0.343													-	112839024	T	-	112839024	7	5	80	1	0	1	0	1	0	0	0	0	16208	1493	52	0	797	0	TMEM87B	2	112839024	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	3449611	112839024	130360349	144	54086											
IL1B	3553	broad.mit.edu	37	chr2	113591057	113591057	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatggccacaacaactgaCgcggcctgcctgaagccctt	9	16	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:113591057C>T	uc002tii.1	-	4	282	c.195G>A	c.(193-195)GCG>GCA	p.A65A	IL1B_uc002tih.1_Silent_p.A34A	NM_000576	NP_000567	P01584	IL1B_HUMAN	interleukin 1, beta proprotein	65					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			lung(3)|breast(1)	4					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	CAACAACTGACGCGGCCTGCC	0.582													T	113591057	C	T	113591057	2	4	80	1	0	0	0	0	0	0	0	1	7651	523	19	1		1	IL1B	2	113591057	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	752033	113591057	129608316	145	54087											
IL1F7	27178	broad.mit.edu	37	chr2	113676235	113676235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctggaacatgctggagtCggcggctcaccccggatggt	14	13	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:113676235C>T	uc002tij.2	+	5	548	c.506C>T	c.(505-507)TCG>TTG	p.S169L	IL1F7_uc002tik.2_Missense_Mutation_p.S148L|IL1F7_uc002til.2_Missense_Mutation_p.S129L|IL1F7_uc002tim.2_Missense_Mutation_p.S108L|IL1F7_uc002tin.2_Missense_Mutation_p.S143L	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	interleukin 1 family, member 7 isoform 1	169					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding				0						ATGCTGGAGTCGGCGGCTCAC	0.507													T	113676235	C	T	113676235	3	4	80	1	0	0	0	0	1	0	0	0	7655	893	31	1	595	1	IL1F7	2	113676235	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	85178	113676235	129523138	146	54088											
C1QL2	165257	broad.mit.edu	37	chr2	119915212	119915212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtgccgtcgccgccgcGcatgaggatgtggtaggtga	18	10	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:119915212G>A	uc002tlo.2	-	1	1260	c.634C>T	c.(634-636)CGC>TGC	p.R212C		NM_182528	NP_872334	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	212	C1q.					collagen				pancreas(1)	1						TCGCCGCCGCGCATGAGGATG	0.637										HNSCC(49;0.14)			A	119915212	G	A	119915212	3	1	80	1	0	0	0	0	1	0	0	0	1959	1087	38	1	237	1	C1QL2	2	119915212	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	6238977	119915212	123284161	147	54089											
C1QL2	165257	broad.mit.edu	37	chr2	119915381	119915381	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaaggcgatcttggggccGctgaaggtggcgctcagcgc	17	10	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:119915381G>A	uc002tlo.2	-	1	1091	c.465C>T	c.(463-465)AGC>AGT	p.S155S		NM_182528	NP_872334	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	155	C1q.					collagen				pancreas(1)	1						TCTTGGGGCCGCTGAAGGTGG	0.657										HNSCC(49;0.14)			A	119915381	G	A	119915381	2	1	80	1	0	0	0	0	0	0	0	1	1959	1078	38	1		1	C1QL2	2	119915381	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	169	119915381	123283992	148	54090											
INHBB	3625	broad.mit.edu	37	chr2	121104067	121104067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcacgccgtgcctaaggcCgccatggtcacggccctgcg	13	17	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:121104067C>T	uc002tmn.2	+	1	349	c.303C>T	c.(301-303)GCC>GCT	p.A101A		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	101					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)				TGCCTAAGGCCGCCATGGTCA	0.731													T	121104067	C	T	121104067	2	4	80	1	0	0	0	0	0	0	0	1	7742	639	23	1		1	INHBB	2	121104067	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1188686	121104067	122095306	149	54091											
GLI2	2736	broad.mit.edu	37	chr2	121726317	121726317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctccagcccgcgggtgaCgccccgcctgagccgcaagc	12	18	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:121726317C>T	uc010flp.2	+	5	701	c.671C>T	c.(670-672)ACG>ATG	p.T224M	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Silent_p.D94D|GLI2_uc010flo.1_Missense_Mutation_p.T99M|GLI2_uc002tmw.1_Missense_Mutation_p.T224M	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	224					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				CCGCGGGTGACGCCCCGCCTG	0.647													T	121726317	C	T	121726317	3	4	80	1	0	0	0	0	1	0	0	0	6438	536	19	1	689	1	GLI2	2	121726317	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	622250	121726317	121473056	150	54092											
LIMS2	55679	broad.mit.edu	37	chr2	128399650	128399650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccactgcttgcccagcgCgttgaccactcggccctcga	11	17	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:128399650C>T	uc002tpa.2	-	6	800	c.634G>A	c.(634-636)GCG>ACG	p.A212T	LIMS2_uc002tou.2_Missense_Mutation_p.A20T|LIMS2_uc002tov.2_Missense_Mutation_p.A60T|LIMS2_uc002tow.2_Missense_Mutation_p.A60T|LIMS2_uc002tox.2_Missense_Mutation_p.A236T|LIMS2_uc010fmb.2_Missense_Mutation_p.A122T|LIMS2_uc002toy.2_Missense_Mutation_p.A207T|LIMS2_uc010yzm.1_Missense_Mutation_p.A234T|LIMS2_uc002toz.2_Missense_Mutation_p.A207T|LIMS2_uc002tpb.2_Missense_Mutation_p.A207T	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	212	LIM zinc-binding 4.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		TTGCCCAGCGCGTTGACCACT	0.667													T	128399650	C	T	128399650	3	4	80	1	0	0	0	0	1	0	0	0	8804	768	27	1	411	1	LIMS2	2	128399650	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	6673333	128399650	114799723	151	54093											
PLEKHB2	55041	broad.mit.edu	37	chr2	131883388	131883388	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcggatggtcacctgatcTattatgatgaccagactcgg	12	9	2	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:131883388T>C	uc002tsg.3	+	3	660	c.100T>C	c.(100-102)TAT>CAT	p.Y34H	PLEKHB2_uc002tsh.2_Missense_Mutation_p.Y34H|PLEKHB2_uc002tsj.3_Missense_Mutation_p.Y34H|PLEKHB2_uc002tsf.3_Missense_Mutation_p.Y34H|PLEKHB2_uc010zao.1_5'UTR|PLEKHB2_uc010zap.1_Missense_Mutation_p.Y34H|PLEKHB2_uc010zaq.1_Missense_Mutation_p.Y34H|PLEKHB2_uc002tsi.3_Missense_Mutation_p.Y75H	NM_001100623	NP_001094093	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B	34	PH.					membrane	protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.0828)		TCACCTGATCTATTATGATGA	0.443													C	131883388	T	C	131883388	3	2	80	1	0	0	0	0	1	0	0	0	12065	1522	53	3	106	3	PLEKHB2	2	131883388	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	3483738	131883388	111315985	152	54094											
LCT	3938	broad.mit.edu	37	chr2	136566101	136566101	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagccccactccgttttcGgtgatgtaaatggggatgtc	12	10	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:136566101G>A	uc002tuu.1	-	8	3827	c.3816C>T	c.(3814-3816)ACC>ACT	p.T1272T		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1272	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTCCGTTTTCGGTGATGTAAA	0.517													A	136566101	G	A	136566101	2	1	80	1	0	0	0	0	0	0	0	1	8693	1103	39	1		1	LCT	2	136566101	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	4682713	136566101	106633272	153	54095											
KYNU	8942	broad.mit.edu	37	chr2	143718233	143718233	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaggatatccttgaagtaaTtgagaaggaaggagactcaa	12	4	1	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:143718233T>A	uc002tvl.2	+	8	753	c.623T>A	c.(622-624)ATT>AAT	p.I208N	KYNU_uc002tvk.2_Missense_Mutation_p.I208N|KYNU_uc010fnm.2_Missense_Mutation_p.I208N	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	208					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CTTGAAGTAATTGAGAAGGAA	0.368													A	143718233	T	A	143718233	3	1	80	1	0	0	0	0	1	0	0	0	8587	1493	52	5	649	5	KYNU	2	143718233	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	7152132	143718233	99481140	154	54096											
RIF1	55183	broad.mit.edu	37	chr2	152321548	152321548	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaaactttagagaggaaatTtgtgatatggattctagtga	11	2	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:152321548T>G	uc002txm.2	+	30	5644	c.5514T>G	c.(5512-5514)ATT>ATG	p.I1838M	RIF1_uc002txl.2_Missense_Mutation_p.I1838M|RIF1_uc002txn.2_Missense_Mutation_p.I1838M|RIF1_uc002txo.2_Missense_Mutation_p.I1838M|RIF1_uc002txp.2_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1838					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GAGAGGAAATTTGTGATATGG	0.333													G	152321548	T	G	152321548	3	3	80	1	0	0	0	0	1	0	0	0	13359	1829	64	5	5628	5	RIF1	2	152321548	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	8603315	152321548	90877825	155	54097											
RIF1	55183	broad.mit.edu	37	chr2	152324631	152324631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctcccataggaaaaagtGttaaaacttctcctactaca	5	10	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:152324631G>A	uc002txm.2	+	31	6848	c.6718G>A	c.(6718-6720)GTT>ATT	p.V2240I	RIF1_uc002txl.2_Missense_Mutation_p.V2240I|RIF1_uc002txn.2_Missense_Mutation_p.V2240I|RIF1_uc002txo.2_Missense_Mutation_p.V2240I|RIF1_uc002txp.2_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	2240	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGGAAAAAGTGTTAAAACTTC	0.363													A	152324631	G	A	152324631	3	1	80	1	0	0	0	0	1	0	0	0	13359	1377	48	4	6836	4	RIF1	2	152324631	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	3083	152324631	90874742	156	54098											
TBR1	10716	broad.mit.edu	37	chr2	162274290	162274290	+	Frame_Shift_Del	DEL	T	T	-													cggatcccaatcactggaggTttcaaggaggcaaatgggtt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:162274289_162274289GT>G	uc002ubw.1	+	1	1097	c.795_795GT>G	c.(793-795)aggfs	p.R265fs	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	Homo sapiens T-box, brain, 1 (TBR1), mRNA.	265						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						ATCACTGGAGGTTTCAAGGAG	0.423													-	162274290	T	-	162274290	7	5	80	1	0	1	0	1	0	0	0	0	15644	1725	60	0	802	0	TBR1	2	162274290	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	9949659	162274290	80925083	157	54099											
KCNH7	90134	broad.mit.edu	37	chr2	163361170	163361170	+	Splice_Site	DEL	A	A	-													tgatatgattaaaaggccctAaaaaaatggaaagtatttgt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:163361169_163361169TA>T	uc002uch.2	-	6	1143	c.914_splice	c.e6-1	p.G305_splice	KCNH7_uc002uci.3_Splice_Site_p.G298_splice	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	305					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TAAAAGGCCCTAAAAAAATGG	0.373													-	163361170	A	-	163361170	8	5	80	1	0	1	0	1	0	0	1	0	8037	377	13	0		0	KCNH7	2	163361170	Splice_Site	DEL	A	TCGA-BR-8368-01A-11D-2340-08	1086880	163361170	79838203	158	54100											
FIGN	55137	broad.mit.edu	37	chr2	164467865	164467865	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacttgaataactaggttcTgtcaggttgctggctacccc	9	11	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:164467865T>C	uc002uck.1	-	3	788	c.477A>G	c.(475-477)ACA>ACG	p.T159T		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	159						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						AACTAGGTTCTGTCAGGTTGC	0.517													C	164467865	T	C	164467865	2	2	80	1	0	0	0	0	0	0	0	1	5891	1567	55	3		3	FIGN	2	164467865	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	1106695	164467865	78731508	159	54101											
SCN1A	6323	broad.mit.edu	37	chr2	166848723	166848723	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataggcaaagttggacatccCaaagatggcgtagatgaaca	11	7	0	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:166848723C>A	uc010zcz.1	-	26	5047	c.5029G>T	c.(5029-5031)GGG>TGG	p.G1677W		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1688	Helical; Name=S5 of repeat IV; (By similarity).|IV.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTGGACATCCCAAAGATGGCG	0.468													A	166848723	C	A	166848723	3	1	80	1	0	0	0	0	1	0	0	0	13914	594	21	5	971	5	SCN1A	2	166848723	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2380858	166848723	76350650	160	54102											
SCN1A	6323	broad.mit.edu	37	chr2	166901611	166901611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttcccttcaatggagaagCgaaaacctttcctcctgatg	9	11	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:166901611C>T	uc010zcz.1	-	10	1622	c.1604G>A	c.(1603-1605)CGC>CAC	p.R535H	SCN1A_uc002udo.3_Missense_Mutation_p.R404H|SCN1A_uc010fpk.2_Missense_Mutation_p.R404H	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	535						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AATGGAGAAGCGAAAACCTTT	0.428													T	166901611	C	T	166901611	3	4	80	1	0	0	0	0	1	0	0	0	13914	768	27	1	4493	1	SCN1A	2	166901611	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	52888	166901611	76297762	161	54103											
SCN9A	6335	broad.mit.edu	37	chr2	167055185	167055185	+	Frame_Shift_Del	DEL	T	T	-													atatcaaaaatgaagctctaTtttttgctttccttgctgtc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:167055185delT	uc010fpl.2	-	27	6272	c.5931delA	c.(5929-5931)AAAfs	p.K1977fs	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1988						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	TGAAGCTCTATTTTTTGCTTT	0.328													-	167055185	T	-	167055185	7	5	80	1	0	1	0	1	0	0	0	0	13925	1490	52	0	6	0	SCN9A	2	167055185	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	153574	167055185	76144188	162	54104											
SCN7A	6332	broad.mit.edu	37	chr2	167262855	167262855	+	Frame_Shift_Del	DEL	A	A	-													ccagcaaatattgcaacttgAaaaagacagagcatactgtt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:167262854_167262854GA>G	uc002udu.2	-	24	4415	c.4285_4285TC>C	c.(4285-4287)caafs	p.Q1429fs	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1429					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ATTGCAACTTGAAAAAGACAG	0.358													-	167262855	A	-	167262855	7	5	80	1	0	1	0	1	0	0	0	0	13923	243	9	0	768	0	SCN7A	2	167262855	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	207670	167262855	75936518	163	54105											
SCN7A	6332	broad.mit.edu	37	chr2	167327173	167327173	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctcaaagttcttgcagtttGaagcgttggaatgaagtcca	10	7	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:167327173G>T	uc002udu.1	-	6	743	c.616C>A	c.(616-618)CAA>AAA	p.Q206K	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	206	Helical; Voltage-sensor; Name=S4 of repeat I; (By similarity).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						CTTGCAGTTTGAAGCGTTGGA	0.299													T	167327173	G	T	167327173	3	4	80	1	0	0	0	0	1	0	0	0	13923	1299	45	5	4512	5	SCN7A	2	167327173	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	64318	167327173	75872200	164	54106											
FASTKD1	79675	broad.mit.edu	37	chr2	170428530	170428531	+	Frame_Shift_Ins	INS	-	-	T													gactctaggaaaacaggtgtINSttttttcatttatatcacaa							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:170428529_170428530G>GT	uc002uev.4	-	1	398_399	c.10_11C>AC	c.(10-12)acafs	p.T4fs	FASTKD1_uc002uew.4_Non-coding_Transcript|FASTKD1_uc002uex.4_5'UTR|FASTKD1_uc002uey.2_5'UTR	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	Homo sapiens FAST kinase domains 1 (FASTKD1), mRNA.	4					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GAAAACAGGTGTTTTTTTCATT	0.366													T	170428531	-	T	170428530	7	5	80	1	0	1	1	0	0	0	0	0	5685	1725	60	0	2589	0	FASTKD1	2	170428530	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	3101357	170428530	72770843	165	54107											
SP5	389058	broad.mit.edu	37	chr2	171573014	171573014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgacgccgcagaagacGcacctgcagccgtccttcgg	14	15	0	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:171573014G>A	uc002uge.2	+	2	463	c.297G>A	c.(295-297)ACG>ACA	p.T99T	LOC440925_uc002ugd.2_5'Flank	NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CGCAGAAGACGCACCTGCAGC	0.706													A	171573014	G	A	171573014	2	1	80	1	0	0	0	0	0	0	0	1	14967	1074	38	1		1	SP5	2	171573014	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1144484	171573014	71626359	166	54108											
GAD1	2571	broad.mit.edu	37	chr2	171678601	171678601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctctcgtcctagcgtaCgatacctggtgcggcgtggc	12	14	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:171678601C>T	uc002ugi.2	+	3	509	c.87C>T	c.(85-87)TAC>TAT	p.Y29Y	GAD1_uc002ugh.2_Silent_p.Y29Y	NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	29					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TCCTAGCGTACGATACCTGGT	0.622													T	171678601	C	T	171678601	2	4	80	1	0	0	0	0	0	0	0	1	6179	547	19	1		1	GAD1	2	171678601	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	105587	171678601	71520772	167	54109											
DCAF17	80067	broad.mit.edu	37	chr2	172334538	172334538	+	Frame_Shift_Del	DEL	A	A	-													acagcttctggacgggtggtAaaaaaaagttttaaccttct							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:172334537_172334537TA>T	uc002ugx.3	+	11	1550	c.1223_1223TA>T	c.(1222-1224)gtafs	p.V408fs	DCAF17_uc010zdq.2_Non-coding_Transcript|DCAF17_uc010zdr.2_Non-coding_Transcript|DCAF17_uc010fqf.2_Frame_Shift_Del_p.V341fs|DCAF17_uc010fqg.3_Frame_Shift_Del_p.V128fs	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 17 (DCAF17), transcript variant 1, mRNA.	408						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						GGACGGGTGGTAAAAAAAAGT	0.368													-	172334538	A	-	172334538	7	5	80	1	0	1	0	1	0	0	0	0	4269	349	13	0	1270	0	DCAF17	2	172334538	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	655937	172334538	70864835	168	54110											
TTN	7273	broad.mit.edu	37	chr2	179452435	179452435	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgactttaggggctggtcGtcctctcactatagcaaaga	11	9	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:179452435G>A	uc010zfg.1	-	255	56121	c.55897C>T	c.(55897-55899)CGA>TGA	p.R18633*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.R12328*|TTN_uc010zfi.1_Nonsense_Mutation_p.R12261*|TTN_uc010zfj.1_Nonsense_Mutation_p.R12136*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19560							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGGCTGGTCGTCCTCTCACT	0.473													A	179452435	G	A	179452435	4	1	80	1	0	0	0	0	0	1	0	0	16732	1153	40	1	44606	1	TTN	2	179452435	Nonsense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	7117897	179452435	63746938	169	54111											
TTN	7273	broad.mit.edu	37	chr2	179638766	179638766	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actttccaaggagactttaaCttcaagctgaacaatgtcac	6	10	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:179638766C>A	uc010zfg.1	-	31	7353	c.7129G>T	c.(7129-7131)GTT>TTT	p.V2377F	TTN_uc010zfh.1_Missense_Mutation_p.V2331F|TTN_uc010zfi.1_Missense_Mutation_p.V2331F|TTN_uc010zfj.1_Missense_Mutation_p.V2331F|TTN_uc002unb.2_Missense_Mutation_p.V2377F|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2377							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGACTTTAACTTCAAGCTGA	0.458													A	179638766	C	A	179638766	3	1	80	1	0	0	0	0	1	0	0	0	16732	565	20	5	104187	5	TTN	2	179638766	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	186331	179638766	63560607	170	54112											
NEUROD1	4760	broad.mit.edu	37	chr2	182542972	182542973	+	Frame_Shift_Ins	INS	-	-	G													gcgctggccgtcggcaggtgINSggggggcatgtcctggttct							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:182542971_182542972T>TG	uc021vto.1	-	0	616_617	c.616_617A>CA	c.(616-618)cacfs	p.H206fs	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Frame_Shift_Ins_p.H206fs|NEUROD1_uc021vtn.1_Frame_Shift_Ins_p.H206fs	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													G	182542973	-	G	182542972	7	5	80	1	0	1	1	0	0	0	0	0	10348	1348	47	0	458	0	NEUROD1	2	182542972	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	2904206	182542972	60656401	171	54113											
COL5A2	1290	broad.mit.edu	37	chr2	189953419	189953419	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcagtaaaatttatgcttAccacagagccaggcattagt	8	8	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:189953419A>G	uc002uqk.2	-	8	920	c.645_splice	c.e8+1	p.V215_splice	COL5A2_uc010frx.2_5'Flank	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein						axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATTTATGCTTACCACAGAGCC	0.358													G	189953419	A	G	189953419	5	3	80	1	0	0	0	0	0	0	1	0	3697	405	14	3	4040	3	COL5A2	2	189953419	Splice_Site	SNP	A	TCGA-BR-8368-01A-11D-2340-08	7410447	189953419	53245954	172	54114											
C2orf66	401027	broad.mit.edu	37	chr2	197672333	197672333	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcccttaaaatatgcctgaAgccttctgaaaaactaaaga	6	9	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:197672333A>C	uc002utv.2	-	2	1077	c.188T>G	c.(187-189)CTT>CGT	p.L63R		NM_213608	NP_998773	Q6UXQ4	CB066_HUMAN	hypothetical protein LOC401027 precursor	63						extracellular region					0						ATATGCCTGAAGCCTTCTGAA	0.378													C	197672333	A	C	197672333	3	2	80	1	0	0	0	0	1	0	0	0	2185	72	3	5	169	5	C2orf66	2	197672333	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	7718914	197672333	45527040	173	54115											
NDUFB3	4709	broad.mit.edu	37	chr2	201943742	201943742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggctaagggatccatgggGccggtaagatgaattaagta	15	5	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:201943742G>A	uc002uwx.3	+	2	460	c.137G>A	c.(136-138)GGC>GAC	p.G46D		NM_002491	NP_002482	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	46					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)	GATCCATGGGGCCGGTAAGAT	0.373													A	201943742	G	A	201943742	3	1	80	1	0	0	0	0	1	0	0	0	10282	1203	42	2	139	2	NDUFB3	2	201943742	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	4271409	201943742	41255631	174	54116											
BMPR2	659	broad.mit.edu	37	chr2	203383649	203383649	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccgtcagaattttatcaaCgaaaagaacatttacagagt	6	7	2	3	rs151044452	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:203383649C>T	uc002uzf.3	+	6	1874	c.726C>T	c.(724-726)AAC>AAT	p.N242N	BMPR2_uc010ftr.2_Silent_p.N242N	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	242	Protein kinase.|Cytoplasmic (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						ATTTTATCAACGAAAAGAACA	0.428													T	203383649	C	T	203383649	2	4	80	1	0	0	0	0	0	0	0	1	1471	535	19	1		1	BMPR2	2	203383649	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1439907	203383649	39815724	175	54117											
RAPH1	65059	broad.mit.edu	37	chr2	204305619	204305620	+	Frame_Shift_Ins	INS	-	-	G													tgcagggataggaggaggtgINSgggggggtgttgggggagcc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:204305618_204305619T>TG	uc002vad.3	-	13	2519_2520	c.2294_2295A>CA	c.(2293-2295)ccafs	p.P765fs		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	765					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TAGGAGGAGGTGGGGGGGGTGT	0.609													G	204305620	-	G	204305619	7	5	80	1	0	1	1	0	0	0	0	0	13050	1348	47	0	1462	0	RAPH1	2	204305619	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	921970	204305619	38893754	176	54118											
NRP2	8828	broad.mit.edu	37	chr2	206608102	206608102	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggtgaggagtggcttcaGgtagatctgggaacacccaa	14	10	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:206608102G>A	uc002vaw.2	+	9	2258	c.1467G>A	c.(1465-1467)CAG>CAA	p.Q489Q	NRP2_uc002vat.2_Silent_p.Q489Q|NRP2_uc002vau.2_Silent_p.Q489Q|NRP2_uc002vav.2_Silent_p.Q489Q|NRP2_uc002vax.2_Silent_p.Q489Q|NRP2_uc002vay.2_Silent_p.Q489Q|NRP2_uc010fud.2_Silent_p.Q489Q	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	489	Extracellular (Potential).|F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4						AGTGGCTTCAGGTAGATCTGG	0.607													A	206608102	G	A	206608102	2	1	80	1	0	0	0	0	0	0	0	1	10661	991	35	4		4	NRP2	2	206608102	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2302483	206608102	36591271	177	54119											
FASTKD2	22868	broad.mit.edu	37	chr2	207655375	207655375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattccttgctatgaaaatgCggcatttgaatgcaatgggt	11	6	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:207655375C>T	uc002vbu.2	+	11	2388	c.1978C>T	c.(1978-1980)CGG>TGG	p.R660W	FASTKD2_uc002vbv.2_Missense_Mutation_p.R660W|FASTKD2_uc002vbx.2_Missense_Mutation_p.R660W|FASTKD2_uc002vbw.1_3'UTR	NM_001136193	NP_001129665	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	660	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|skin(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TATGAAAATGCGGCATTTGAA	0.368													T	207655375	C	T	207655375	3	4	80	1	0	0	0	0	1	0	0	0	5686	759	27	1	2016	1	FASTKD2	2	207655375	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1047273	207655375	35543998	178	54120											
IDH1	3417	broad.mit.edu	37	chr2	209104637	209104637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggtacatgcggtagtgaCgggttacagtcccgtgggca	15	9	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:209104637C>T	uc002vcs.2	-	8	1187	c.941G>A	c.(940-942)CGT>CAT	p.R314H	IDH1_uc002vct.2_Missense_Mutation_p.R314H|IDH1_uc002vcu.2_Missense_Mutation_p.R314H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	314	NADP.				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		GCGGTAGTGACGGGTTACAGT	0.517			Mis		gliobastoma 								T	209104637	C	T	209104637	3	4	80	1	0	0	0	0	1	0	0	0	7494	536	19	1	315	1	IDH1	2	209104637	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1449262	209104637	34094736	179	54121											
MAP2	4133	broad.mit.edu	37	chr2	210558967	210558967	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggagtttaggacttggtggTaggtctgcaatagaacaaag	14	4	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:210558967T>A	uc002vde.1	+	7	2321	c.2073T>A	c.(2071-2073)GGT>GGA	p.G691G	MAP2_uc002vdc.1_Silent_p.G691G|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.G687G	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	691					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GACTTGGTGGTAGGTCTGCAA	0.418													A	210558967	T	A	210558967	2	1	80	1	0	0	0	0	0	0	0	1	9235	1625	57	5		5	MAP2	2	210558967	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	1454330	210558967	32640406	180	54122											
LANCL1	10314	broad.mit.edu	37	chr2	211306124	211306124	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctattcgcccatagagcaTttcatttggagcatgaggat	10	9	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:211306124T>C	uc010zjh.1	-	5	526	c.451A>G	c.(451-453)ATG>GTG	p.M151V	LANCL1_uc002ved.2_Missense_Mutation_p.M151V|LANCL1_uc010fuq.2_Missense_Mutation_p.M151V	NM_001136574	NP_001130046	O43813	LANC1_HUMAN	lanthionine synthetase C-like protein 1	151						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding				0				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		CCATAGAGCATTTCATTTGGA	0.368													C	211306124	T	C	211306124	3	2	80	1	0	0	0	0	1	0	0	0	8620	1493	52	3	772	3	LANCL1	2	211306124	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	747157	211306124	31893249	181	54123											
MREG	55686	broad.mit.edu	37	chr2	216810399	216810399	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttccttgtgtttttagaAtcactgatggtgctgagttt	10	6	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:216810399A>C	uc002vfo.2	-	4	701	c.405T>G	c.(403-405)GAT>GAG	p.D135E	MREG_uc002vfq.2_RNA	NM_018000	NP_060470	Q8N565	MREG_HUMAN	whn-dependent transcript 2	135						apical plasma membrane					0		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		TGTTTTTAGAATCACTGATGG	0.398													C	216810399	A	C	216810399	3	2	80	1	0	0	0	0	1	0	0	0	9760	98	4	5	247	5	MREG	2	216810399	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	5504275	216810399	26388974	182	54124											
C2orf62	375307	broad.mit.edu	37	chr2	219227522	219227522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcttcatctcagaggctgCcaacctggtgctgctcaggg	14	12	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:219227522C>T	uc002vhr.2	+	6	556	c.527C>T	c.(526-528)GCC>GTC	p.A176V	C2orf62_uc002vhs.2_Intron	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	hypothetical protein LOC375307	176											0		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAGAGGCTGCCAACCTGGTG	0.577													T	219227522	C	T	219227522	3	4	80	1	0	0	0	0	1	0	0	0	2181	739	26	2	549	2	C2orf62	2	219227522	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2417123	219227522	23971851	183	54125											
CCDC108	255101	broad.mit.edu	37	chr2	219883883	219883883	+	Frame_Shift_Del	DEL	G	G	-													agccttaaaggggtgaggacGggggggatctggctcatgct							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:219883882_219883882CG>C	uc002vjl.1	-	20	3577	c.3493_3493CG>G	c.(3493-3495)gtcfs	p.V1165fs	CCDC108_uc002vjm.3_Frame_Shift_Del_p.V50fs	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1165						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGTGAGGACGGGGGGGATC	0.612													-	219883883	G	-	219883883	7	5	80	1	0	1	0	1	0	0	0	0	2743	1103	39	0	2345	0	CCDC108	2	219883883	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	656361	219883883	23315490	184	54126											
DNPEP	23549	broad.mit.edu	37	chr2	220239648	220239649	+	Frame_Shift_Ins	INS	-	-	G													atagagtgcatggccagttgINSggggctgcctaaatccagca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:220239647_220239648T>TG	uc002vle.2	-	13	1482_1483	c.1336_1337A>CA	c.(1336-1338)caafs	p.Q446fs	DNPEP_uc002vli.2_Frame_Shift_Ins_p.Q393fs|DNPEP_uc010zlg.2_Frame_Shift_Ins_p.Q454fs	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	Homo sapiens aspartyl aminopeptidase (DNPEP), mRNA.	436					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CATGGCCAGTTGGGGGCTGCCT	0.604													G	220239649	-	G	220239648	7	5	80	1	0	1	1	0	0	0	0	0	4679	1357	47	0	129	0	DNPEP	2	220239648	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	355765	220239648	22959725	185	54127											
SPEG	10290	broad.mit.edu	37	chr2	220299720	220299720	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcagaaagcccggggcacGcgaggcgaggatgcgggcac	18	11	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:220299720G>A	uc010fwg.2	+	1	21	c.21G>A	c.(19-21)ACG>ACA	p.T7T	SPEG_uc002vlm.2_5'Flank	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	7					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCGGGGCACGCGAGGCGAGG	0.761													A	220299720	G	A	220299720	2	1	80	1	0	0	0	0	0	0	0	1	15035	1074	38	1		1	SPEG	2	220299720	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	60072	220299720	22899653	186	54128											
OBSL1	23363	broad.mit.edu	37	chr2	220418391	220418391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggtcgtgtggcccccgcaCgatggtcactgggacctctg	14	13	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:220418391C>T	uc010fwk.2	-	16	4951	c.4894G>A	c.(4894-4896)GTG>ATG	p.V1632M		NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1632	Ig-like 13.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGCCCCCGCACGATGGTCACT	0.612											OREG0003989	type=REGULATORY REGION|Gene=AK092118|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	220418391	C	T	220418391	3	4	80	1	0	0	0	0	1	0	0	0	10813	536	19	1	820	1	OBSL1	2	220418391	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	118671	220418391	22780982	187	54129											
OBSL1	23363	broad.mit.edu	37	chr2	220428089	220428089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccccacctgtgatggtgaCagtgaagtaggcacactcat	10	13	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:220428089C>T	uc010fwk.2	-	7	2725	c.2668G>A	c.(2668-2670)GTC>ATC	p.V890I	OBSL1_uc010zli.1_5'Flank|OBSL1_uc010fwl.1_Missense_Mutation_p.V365I|OBSL1_uc002vmi.2_Missense_Mutation_p.V890I|OBSL1_uc002vmj.2_Missense_Mutation_p.V477I	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	890	Ig-like 6.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GTGATGGTGACAGTGAAGTAG	0.667													T	220428089	C	T	220428089	3	4	80	1	0	0	0	0	1	0	0	0	10813	478	17	4	3234	4	OBSL1	2	220428089	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	9698	220428089	22771284	188	54130											
ACSL3	2181	broad.mit.edu	37	chr2	223791818	223791818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctccactttctgcaaccaCgcagcgattcatgaacatct	6	15	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:223791818C>T	uc002vni.2	+	12	1827	c.1376C>T	c.(1375-1377)ACG>ATG	p.T459M	ACSL3_uc002vnj.2_Missense_Mutation_p.T459M	NM_004457	NP_004448	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	459	Cytoplasmic (Potential).				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			ovary(2)	2		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TCTGCAACCACGCAGCGATTC	0.473			T	ETV1	prostate								T	223791818	C	T	223791818	3	4	80	1	0	0	0	0	1	0	0	0	178	536	19	1	1410	1	ACSL3	2	223791818	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3363729	223791818	19407555	189	54131											
SCG2	7857	broad.mit.edu	37	chr2	224463302	224463302	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcaatgttattagccttgtaGatatcatcttcatcatccgt	6	9	4	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:224463302G>T	uc002vnm.2	-	2	832	c.699C>A	c.(697-699)ATC>ATA	p.I233I		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	233					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			ovary(1)	1		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TAGCCTTGTAGATATCATCTT	0.458													T	224463302	G	T	224463302	2	4	80	1	0	0	0	0	0	0	0	1	13891	932	33	5		5	SCG2	2	224463302	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	671484	224463302	18736071	190	54132											
SP140	11262	broad.mit.edu	37	chr2	231159025	231159026	+	Frame_Shift_Ins	INS	-	-	A													tccaagaatacgttacaggaINSaaaaaaaggtgattattaca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:231159024_231159025G>GA	uc002vql.3	+	20	2122_2123	c.2007_2008G>GA	c.(2005-2010)aggaaafs	p.R669fs	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Frame_Shift_Ins_p.R555fs|SP140_uc002vqm.3_Frame_Shift_Ins_p.R609fs|SP140_uc010fxl.3_Frame_Shift_Ins_p.R642fs	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	669					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K672fs*4(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TACGTTACAGGAAAAAAAAGGT	0.371													A	231159026	-	A	231159025	7	5	80	1	0	1	1	0	0	0	0	0	14962	247	9	0	2207	0	SP140	2	231159025	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	6695723	231159025	12040348	191	54133											
NMUR1	10316	broad.mit.edu	37	chr2	232393263	232393263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggccacatagcgttccaCgctcagggcagtgacgttga	12	13	1	2	rs138003035	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:232393263C>T	uc002vry.3	-	2	579	c.469G>A	c.(469-471)GTG>ATG	p.V157M		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	157	Helical; Name=3; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			lung(3)|central_nervous_system(1)|pancreas(1)	5		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TAGCGTTCCACGCTCAGGGCA	0.632													T	232393263	C	T	232393263	3	4	80	1	0	0	0	0	1	0	0	0	10506	536	19	1	819	1	NMUR1	2	232393263	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1234238	232393263	10806110	192	54134											
ECEL1	9427	broad.mit.edu	37	chr2	233346298	233346298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggctgtaggaggcctccGtccaccagtgcagcaggttc	14	13	0	0	rs146580059		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:233346298G>A	uc002vsv.2	-	14	2112	c.1907C>T	c.(1906-1908)ACG>ATG	p.T636M	ECEL1_uc010fya.1_Missense_Mutation_p.T634M|ECEL1_uc010fyb.1_Missense_Mutation_p.T343M	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	636	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGAGGCCTCCGTCCACCAGTG	0.642													A	233346298	G	A	233346298	3	1	80	1	0	0	0	0	1	0	0	0	4891	1145	40	1	440	1	ECEL1	2	233346298	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	953035	233346298	9853075	193	54135											
DGKD	8527	broad.mit.edu	37	chr2	234355371	234355371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcaggtggagcgtcatgGcatacgaggccaagctcccc	14	12	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:234355371G>A	uc002vui.1	+	12	1360	c.1348G>A	c.(1348-1350)GCA>ACA	p.A450T	DGKD_uc002vuj.1_Missense_Mutation_p.A406T|DGKD_uc010fyh.1_Missense_Mutation_p.A317T|DGKD_uc010fyi.1_RNA	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	450	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	p.A450S(1)		central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GAGCGTCATGGCATACGAGGC	0.632													A	234355371	G	A	234355371	3	1	80	1	0	0	0	0	1	0	0	0	4467	1203	42	2	1418	2	DGKD	2	234355371	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1009073	234355371	8844002	194	54136											
COL6A3	1293	broad.mit.edu	37	chr2	238277492	238277492	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggtgttggggcaccccGtcttctatgcgactccccgc	11	16	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:238277492G>A	uc002vwl.2	-	10	4899	c.4614C>T	c.(4612-4614)GAC>GAT	p.D1538D	COL6A3_uc002vwo.2_Silent_p.D1332D|COL6A3_uc010znj.1_Silent_p.D931D	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1538	VWFA 8.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGGGCACCCCGTCTTCTATGC	0.577													A	238277492	G	A	238277492	2	1	80	1	0	0	0	0	0	0	0	1	3701	1136	40	1		1	COL6A3	2	238277492	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	3922121	238277492	4921881	195	54137											
RBM44	375316	broad.mit.edu	37	chr2	238727072	238727072	+	Frame_Shift_Del	DEL	A	A	-													cagagataacaatgatgaatAaaaaacgacctgatgaatgg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:238727072delA	uc002vxi.3	+	3	1645	c.1513delA	c.(1513-1515)AAAfs	p.K505fs		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	504							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AATGATGAATAAAAAACGACC	0.383													-	238727072	A	-	238727072	7	5	80	1	0	1	0	1	0	0	0	0	13138	363	13	0	1519	0	RBM44	2	238727072	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	449580	238727072	4472301	196	54138											
PER2	8864	broad.mit.edu	37	chr2	239157776	239157777	+	Frame_Shift_Del	DEL	CT	CT	-													cgcgcagctcctgcttctgaCtctccgtgaacctgggctgg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:239157775_239157776ACT>A	uc002vyc.3	-	21	3782_3783	c.3545_3546AGT>T	c.(3544-3546)agtfs	p.S1182fs	PER2_uc010znv.1_Frame_Shift_Del_p.S1182fs	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	1182	CRY binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCTGCTTCTGACTCTCCGTGAA	0.54													-	239157777	CT	-	239157776	7	5	80	1	0	1	0	1	0	0	0	0	11730	565	20	0	230	0	PER2	2	239157776	Frame_Shift_Del	DEL	CT	TCGA-BR-8368-01A-11D-2340-08	430704	239157776	4041597	197	54139											
ASB1	51665	broad.mit.edu	37	chr2	239353002	239353002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtacggggctgatgttgacGtcaaccaccacctgactcct	11	13	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:239353002G>A	uc002vyg.2	+	4	600	c.514G>A	c.(514-516)GTC>ATC	p.V172I		NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box-containing protein	172	ANK 4.				intracellular signal transduction|negative regulation of cytokine biosynthetic process						0		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		TGATGTTGACGTCAACCACCA	0.493													A	239353002	G	A	239353002	3	1	80	1	0	0	0	0	1	0	0	0	1013	1145	40	1	528	1	ASB1	2	239353002	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	195226	239353002	3846371	198	54140											
HDAC4	9759	broad.mit.edu	37	chr2	240002823	240002823	+	Frame_Shift_Del	DEL	G	G	-													aagtactcagcgtctcccatGggggggtccaggccgccggt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:240002822_240002822TG>T	uc002vyk.4	-	21	3496	c.2704_2704CA>A	c.(2704-2706)atgfs	p.M902fs	HDAC4_uc010fyy.3_Frame_Shift_Del_p.M859fs	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	902	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCGTCTCCCATGGGGGGGTCC	0.597													-	240002823	G	-	240002823	7	5	80	1	0	1	0	1	0	0	0	0	7009	1335	47	0	575	0	HDAC4	2	240002823	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	649821	240002823	3196550	199	54141											
PRR21	643905	broad.mit.edu	37	chr2	240981445	240981445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggcatggacgaagggccGtgggtgaagaggcatggacg	20	6	0	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:240981445G>A	uc010zod.1	-	1	955	c.955C>T	c.(955-957)CGG>TGG	p.R319W		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	proline rich 21	319	Pro-rich.									ovary(1)|skin(1)	2						ACGAAGGGCCGTGGGTGAAGA	0.597													A	240981445	G	A	240981445	3	1	80	1	0	0	0	0	1	0	0	0	12592	1144	40	1	217	1	PRR21	2	240981445	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	978622	240981445	2217928	200	54142											
ANKMY1	51281	broad.mit.edu	37	chr2	241439508	241439508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcgctctgctggcatcagCgtgtggaaggggcagcgggc	18	11	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:241439508C>T	uc002vyz.1	-	14	2635	c.2406G>A	c.(2404-2406)ACG>ACA	p.T802T	ANKMY1_uc002vza.1_Silent_p.T578T|ANKMY1_uc010fzd.1_Silent_p.T891T|ANKMY1_uc002vzb.1_Silent_p.T563T|ANKMY1_uc002vzc.1_Silent_p.T581T|ANKMY1_uc002vzd.1_Silent_p.T625T	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	802							zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CTGGCATCAGCGTGTGGAAGG	0.672													T	241439508	C	T	241439508	2	4	80	1	0	0	0	0	0	0	0	1	634	755	27	1		1	ANKMY1	2	241439508	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	458063	241439508	1759865	201	54143											
KIF1A	547	broad.mit.edu	37	chr2	241712648	241712648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgatgacagcattgcagcGgatctgcttggcccggtcag	13	10	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:241712648G>A	uc002vzy.2	-	13	1209	c.1063C>T	c.(1063-1065)CGC>TGC	p.R355C	KIF1A_uc010fzk.2_Missense_Mutation_p.R355C|KIF1A_uc002vzz.1_Missense_Mutation_p.R355C	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	355	Kinesin-motor.				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)		GCATTGCAGCGGATCTGCTTG	0.627													A	241712648	G	A	241712648	3	1	80	1	0	0	0	0	1	0	0	0	8283	1116	39	1	4149	1	KIF1A	2	241712648	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	273140	241712648	1486725	202	54144											
HDLBP	3069	broad.mit.edu	37	chr2	242170272	242170272	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgtcctcagaaaccatctGctcaagttcacccacaattc	5	15	4	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:242170272G>A	uc002waz.2	-	25	3604	c.3376C>T	c.(3376-3378)CAG>TAG	p.Q1126*	HDLBP_uc002wba.2_Nonsense_Mutation_p.Q1126*|HDLBP_uc002wbb.2_Nonsense_Mutation_p.Q1078*	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1126	KH 13.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GAAACCATCTGCTCAAGTTCA	0.517													A	242170272	G	A	242170272	4	1	80	1	0	0	0	0	0	1	0	0	7025	1328	46	2	446	2	HDLBP	2	242170272	Nonsense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	457624	242170272	1029101	203	54145											
HDLBP	3069	broad.mit.edu	37	chr2	242186274	242186274	+	Frame_Shift_Del	DEL	T	T	-													attctctgctggaaggtcgaTtttggtgttgctttcttcac							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:242186273_242186273AT>A	uc002waz.3	-	15	2017	c.1844_1844AT>T	c.(1843-1845)atcfs	p.I615fs	HDLBP_uc002wba.3_Frame_Shift_Del_p.I615fs|HDLBP_uc021vzg.1_Frame_Shift_Del_p.I582fs	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	615	KH 7.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TGGAAGGTCGATTTTGGTGTT	0.488													-	242186274	T	-	242186274	7	5	80	1	0	1	0	1	0	0	0	0	7025	1493	52	0	2015	0	HDLBP	2	242186274	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	16002	242186274	1013099	204	54146											
CNTN6	27255	broad.mit.edu	37	chr3	1394070	1394070	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taccaggtcagatgctggatCatatacatgcatagccacaa	8	10	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:1394070C>A	uc003boz.2	+	12	1694	c.1427C>A	c.(1426-1428)TCA>TAA	p.S476*	CNTN6_uc011asj.1_Nonsense_Mutation_p.S404*|CNTN6_uc003bpa.2_Nonsense_Mutation_p.S476*	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	476	Ig-like C2-type 5.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GATGCTGGATCATATACATGC	0.358													A	1394070	C	A	1394070	4	1	80	1	0	0	0	0	0	1	0	0	3645	838	29	5	1469	5	CNTN6	3	1394070	Nonsense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08		1394070	196628360	205	54147											
CNTN6	27255	broad.mit.edu	37	chr3	1445015	1445015	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaggtttgagttccagAggaattcaattcttagaacc	9	7	2	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:1445015A>G	uc003boz.2	+	23	3267	c.3000A>G	c.(2998-3000)AGA>AGG	p.R1000R	CNTN6_uc011asj.1_Silent_p.R928R|CNTN6_uc003bpa.2_Silent_p.R1000R	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	1000					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGAGTTCCAGAGGAATTCAAT	0.299													G	1445015	A	G	1445015	2	3	80	1	0	0	0	0	0	0	0	1	3645	301	11	3		3	CNTN6	3	1445015	Silent	SNP	A	TCGA-BR-8368-01A-11D-2340-08	50945	1445015	196577415	206	54148											
LRRN1	57633	broad.mit.edu	37	chr3	3887633	3887633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttcccaaatcgtttaaaCgtggatatcggcacgacggt	10	10	0	0	rs115354749	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:3887633C>T	uc003bpt.3	+	2	2069	c.1308C>T	c.(1306-1308)AAC>AAT	p.N436N	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	436	Ig-like C2-type.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ATCGTTTAAACGTGGATATCG	0.468													T	3887633	C	T	3887633	2	4	80	1	0	0	0	0	0	0	0	1	9034	535	19	1		1	LRRN1	3	3887633	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2442618	3887633	194134797	207	54149											
ATG7	10533	broad.mit.edu	37	chr3	11383709	11383709	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgtcaaatgtctgctgCttggagccggcaccttgggt	13	10	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:11383709C>A	uc003bwc.2	+	11	1198	c.1081C>A	c.(1081-1083)CTT>ATT	p.L361I	ATG7_uc003bwd.2_Missense_Mutation_p.L361I|ATG7_uc011aum.1_Missense_Mutation_p.L322I	NM_006395	NP_006386	O95352	ATG7_HUMAN	APG7 autophagy 7-like isoform a	361					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)	1						ATGTCTGCTGCTTGGAGCCGG	0.473													A	11383709	C	A	11383709	3	1	80	1	0	0	0	0	1	0	0	0	1101	797	28	5	1119	5	ATG7	3	11383709	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	7496076	11383709	186638721	208	54150											
HDAC11	79885	broad.mit.edu	37	chr3	13544421	13544421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacttcatggacgacaagcGtgtgtacatcatggatgtct	11	8	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:13544421G>A	uc003bxy.2	+	8	723	c.590G>A	c.(589-591)CGT>CAT	p.R197H	HDAC11_uc010heb.2_Missense_Mutation_p.V155M|HDAC11_uc011aux.1_Missense_Mutation_p.R5H|HDAC11_uc011auy.1_Missense_Mutation_p.R146H	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	histone deacetylase 11 isoform 1	197	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			ovary(2)	2						GACGACAAGCGTGTGTACATC	0.592													A	13544421	G	A	13544421	3	1	80	1	0	0	0	0	1	0	0	0	7006	1145	40	1	620	1	HDAC11	3	13544421	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2160712	13544421	184478009	209	54151											
FBLN2	2199	broad.mit.edu	37	chr3	13670507	13670507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaacccgctgatctgcgCgcgcggctaccacgccagcg	14	16	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:13670507C>T	uc011avb.1	+	11	2656	c.2531C>T	c.(2530-2532)GCG>GTG	p.A844V	FBLN2_uc011auz.1_Missense_Mutation_p.A870V|FBLN2_uc011ava.1_Missense_Mutation_p.A891V|FBLN2_uc011avc.1_Missense_Mutation_p.A891V	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	844	EGF-like 5; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTGATCTGCGCGCGCGGCTAC	0.667													T	13670507	C	T	13670507	3	4	80	1	0	0	0	0	1	0	0	0	5699	768	27	1	1404	1	FBLN2	3	13670507	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	126086	13670507	184351923	210	54152											
CHCHD4	131474	broad.mit.edu	37	chr3	14154633	14154633	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgttctccacagggaccGctggccattcccccaaggca	9	16	1	0	rs148570860	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:14154633G>A	uc003byj.3	-	3	378	c.183C>T	c.(181-183)AGC>AGT	p.S61S	CHCHD4_uc003byi.3_Silent_p.S74S	NM_001098502	NP_001091972	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain	61	CHCH.				protein transport|transmembrane transport	mitochondrial intermembrane space					0						CACAGGGACCGCTGGCCATTC	0.493													A	14154633	G	A	14154633	2	1	80	1	0	0	0	0	0	0	0	1	3318	1078	38	1		1	CHCHD4	3	14154633	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	484126	14154633	183867797	211	54153											
C3orf20	84077	broad.mit.edu	37	chr3	14724408	14724408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacccttcagtgcctacccCgtccgacatcttgggcctgg	10	16	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:14724408C>T	uc003byy.2	+	3	592	c.188C>T	c.(187-189)CCG>CTG	p.P63L	C3orf20_uc003byz.2_Intron|C3orf20_uc003bza.2_Intron|C3orf20_uc003byx.1_Missense_Mutation_p.P63L	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	63						cytoplasm|integral to membrane				ovary(3)|skin(1)	4						GTGCCTACCCCGTCCGACATC	0.512													T	14724408	C	T	14724408	3	4	80	1	0	0	0	0	1	0	0	0	2213	652	23	1	190	1	C3orf20	3	14724408	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	569775	14724408	183298022	212	54154											
BTD	686	broad.mit.edu	37	chr3	15686554	15686554	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctcccacatttcactctgaGatgatgtatgacaatttcac	5	12	3	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:15686554G>A	uc003cah.2	+	4	1294	c.1191G>A	c.(1189-1191)GAG>GAA	p.E397E	BTD_uc011avv.1_Silent_p.E399E|BTD_uc011avw.1_Silent_p.E399E|BTD_uc011avx.1_Silent_p.E377E	NM_000060	NP_000051	P43251	BTD_HUMAN	biotinidase precursor	397					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity				0						TTCACTCTGAGATGATGTATG	0.498													A	15686554	G	A	15686554	2	1	80	1	0	0	0	0	0	0	0	1	1550	933	33	4		4	BTD	3	15686554	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	962146	15686554	182335876	213	54155											
THRB	7068	broad.mit.edu	37	chr3	24231679	24231679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagtggtctggatgagatGtggcgacgactgttcatttt	13	7	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:24231679G>A	uc003ccx.3	-	5	518	c.169C>T	c.(169-171)CAT>TAT	p.H57Y	THRB_uc010hfe.2_Missense_Mutation_p.H57Y|THRB_uc003ccy.3_Missense_Mutation_p.H57Y|THRB_uc003ccz.3_Missense_Mutation_p.H52Y|THRB_uc003cdc.2_Missense_Mutation_p.H52Y|THRB_uc003cdd.2_Missense_Mutation_p.H52Y|THRB_uc003cde.1_Missense_Mutation_p.H52Y	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	57	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGATGAGATGTGGCGACGAC	0.498													A	24231679	G	A	24231679	3	1	80	1	0	0	0	0	1	0	0	0	15872	1377	48	4	1244	4	THRB	3	24231679	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	8545125	24231679	173790751	214	54156											
NEK10	152110	broad.mit.edu	37	chr3	27216220	27216220	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttcgtctttaccataggaGgcctggaagccttcaggggg	13	10	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:27216220G>T	uc010hfk.2	-	6	775	c.546C>A	c.(544-546)GCC>GCA	p.A182A	NEK10_uc003cds.1_Silent_p.A267A|NEK10_uc010hfj.2_Silent_p.A182A			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	870							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						TACCATAGGAGGCCTGGAAGC	0.507													T	27216220	G	T	27216220	2	4	80	1	0	0	0	0	0	0	0	1	10322	1015	35	5		5	NEK10	3	27216220	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2984541	27216220	170806210	215	54157											
FBXL2	25827	broad.mit.edu	37	chr3	33416811	33416811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggtgtggtgcagatatGcaggggctgtcaccggctac	16	8	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:33416811G>A	uc003cfp.2	+	10	760	c.689G>A	c.(688-690)TGC>TAC	p.C230Y	FBXL2_uc011axm.1_RNA|FBXL2_uc011axn.1_RNA|FBXL2_uc011axo.1_Missense_Mutation_p.C125Y|FBXL2_uc011axp.1_Missense_Mutation_p.C146Y|FBXL2_uc011axq.1_RNA|FBXL2_uc011axr.1_RNA|FBXL2_uc011axs.1_RNA	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	230	LRR 7.				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			large_intestine(1)	1						GTGCAGATATGCAGGGGCTGT	0.537													A	33416811	G	A	33416811	3	1	80	1	0	0	0	0	1	0	0	0	5716	1319	46	2	727	2	FBXL2	3	33416811	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	6200591	33416811	164605619	216	54158											
CLASP2	23122	broad.mit.edu	37	chr3	33633950	33633950	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctgccttggcatttcccaTgccagcaagtggtgctgaaa	10	11	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:33633950T>C	uc003cfu.2	-	21	2359	c.2005A>G	c.(2005-2007)ATG>GTG	p.M669V	CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.M244V	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	CLIP-associating protein 2	670										ovary(3)|central_nervous_system(1)	4						GCATTTCCCATGCCAGCAAGT	0.343													C	33633950	T	C	33633950	3	2	80	1	0	0	0	0	1	0	0	0	3455	1464	51	3	2587	3	CLASP2	3	33633950	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	217139	33633950	164388480	217	54159											
PLCD1	5333	broad.mit.edu	37	chr3	38049968	38049968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgatgttgagccgcttcCgtgcccaccagggcccctga	11	17	0	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:38049968C>T	uc003chn.2	-	12	2007	c.1883G>A	c.(1882-1884)CGG>CAG	p.R628Q	PLCD1_uc003chm.2_Missense_Mutation_p.R649Q	NM_006225	NP_006216	P51178	PLCD1_HUMAN	phospholipase C, delta 1 isoform 2	628	C2.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GAGCCGCTTCCGTGCCCACCA	0.662													T	38049968	C	T	38049968	3	4	80	1	0	0	0	0	1	0	0	0	12031	652	23	1	403	1	PLCD1	3	38049968	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	4416018	38049968	159972462	218	54160											
SLC22A13	9390	broad.mit.edu	37	chr3	38318562	38318562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccctgctgccagagacGcatggccagggcctgaaaga	13	13	0	3	rs1065182		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:38318562G>A	uc003chz.3	+	9	1560	c.1506G>A	c.(1504-1506)ACG>ACA	p.T502T		NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion	502	Cytoplasmic (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TGCCAGAGACGCATGGCCAGG	0.632													A	38318562	G	A	38318562	2	1	80	1	0	0	0	0	0	0	0	1	14444	1074	38	1		1	SLC22A13	3	38318562	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	268594	38318562	159703868	219	54161											
ACVR2B	93	broad.mit.edu	37	chr3	38518857	38518857	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagcgcaccaaccagagCggcctggagcgctgcgaagg	16	13	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:38518857C>T	uc003cif.2	+	2	156	c.132C>T	c.(130-132)AGC>AGT	p.S44S	ACVR2B_uc003cig.2_5'UTR	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	44	Extracellular (Potential).				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CCAACCAGAGCGGCCTGGAGC	0.637													T	38518857	C	T	38518857	2	4	80	1	0	0	0	0	0	0	0	1	224	767	27	1		1	ACVR2B	3	38518857	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	200295	38518857	159503573	220	54162											
SCN10A	6336	broad.mit.edu	37	chr3	38755487	38755487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaagagcccgcagtggccGcagagcgcgaagggttcgaa	16	10	0	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:38755487G>A	uc003ciq.2	-	21	3766	c.3766C>T	c.(3766-3768)CGG>TGG	p.R1256W		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1256	III.|Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CGCAGTGGCCGCAGAGCGCGA	0.428													A	38755487	G	A	38755487	3	1	80	1	0	0	0	0	1	0	0	0	13912	1086	38	1	2132	1	SCN10A	3	38755487	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	236630	38755487	159266943	221	54163											
ENTPD3	956	broad.mit.edu	37	chr3	40442404	40442404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatggtattgtgctggatgCcgggtcttcaagaaccacag	13	8	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:40442404C>T	uc003ckd.3	+	4	280	c.188C>T	c.(187-189)GCC>GTC	p.A63V	ENTPD3_uc010hhy.2_Missense_Mutation_p.A63V|uc003cke.3_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase	63	Extracellular (Potential).					integral to membrane	ATP binding|hydrolase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		GTGCTGGATGCCGGGTCTTCA	0.478													T	40442404	C	T	40442404	3	4	80	1	0	0	0	0	1	0	0	0	5140	739	26	2	198	2	ENTPD3	3	40442404	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1686917	40442404	157580026	222	54164											
ZNF445	353274	broad.mit.edu	37	chr3	44497024	44497024	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctggataggcagcatgCcacctgcctggaggcatcac	13	12	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:44497024C>T	uc003cnf.2	-	3	366	c.18G>A	c.(16-18)TGG>TGA	p.W6*	ZNF445_uc011azv.1_Nonsense_Mutation_p.W6*|ZNF445_uc011azw.1_Nonsense_Mutation_p.W6*	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	6					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGGCAGCATGCCACCTGCCTG	0.547													T	44497024	C	T	44497024	4	4	80	1	0	0	0	0	0	1	0	0	17915	740	26	2	3101	2	ZNF445	3	44497024	Nonsense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	4054620	44497024	153525406	223	54165											
KIF15	56992	broad.mit.edu	37	chr3	44893719	44893719	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagatggaaatgttaaggaAgcaggtggagtgtcttgctg	17	3	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:44893719A>C	uc003cnx.3	+	34	4141	c.3992A>C	c.(3991-3993)AAG>ACG	p.K1331T	KIF15_uc010hiq.2_Missense_Mutation_p.K1234T|KIF15_uc010hir.2_Missense_Mutation_p.K379T	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	1331	Potential.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		ATGTTAAGGAAGCAGGTGGAG	0.393													C	44893719	A	C	44893719	3	2	80	1	0	0	0	0	1	0	0	0	8277	72	3	5	4126	5	KIF15	3	44893719	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	396695	44893719	153128711	224	54166											
CDCP1	64866	broad.mit.edu	37	chr3	45137008	45137008	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtttgacgggccgtggctcGatggtgagtgacatggctcg	17	8	0	3	rs145622666		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:45137008G>A	uc003com.2	-	5	1212	c.1077C>T	c.(1075-1077)ATC>ATT	p.I359I		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	359	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GCCGTGGCTCGATGGTGAGTG	0.507													A	45137008	G	A	45137008	2	1	80	1	0	0	0	0	0	0	0	1	3093	1048	37	1		1	CDCP1	3	45137008	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	243289	45137008	152885422	225	54167											
NBEAL2	23218	broad.mit.edu	37	chr3	47040920	47040920	+	Frame_Shift_Del	DEL	C	C	-													cttgcctgaggggactgtttCcccccagctctgccagggcc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:47040920delC	uc003cqp.2	+	25	3838	c.3659delC	c.(3658-3660)TCCfs	p.S1220fs	NBEAL2_uc010hjm.1_Frame_Shift_Del_p.S728fs|NBEAL2_uc010hjn.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1220	Leu-rich.						binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GGGACTGTTTCCCCCCAGCTC	0.632													-	47040920	C	-	47040920	7	5	80	1	0	1	0	1	0	0	0	0	10189	855	30	0	3757	0	NBEAL2	3	47040920	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	1903912	47040920	150981510	226	54168											
LAMB2	3913	broad.mit.edu	37	chr3	49160436	49160436	+	Frame_Shift_Del	DEL	C	C	-													cctcatctcgacagccggcaCccccacaagggcttgtagca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:49160435_49160435AC>A	uc003cwe.3	-	26	4574	c.4275_4275GT>T	c.(4273-4275)ggtfs	p.G1425fs	USP19_uc003cwb.3_5'Flank|USP19_uc003cvz.4_5'Flank|USP19_uc011bcg.2_5'Flank|USP19_uc011bch.2_5'Flank|USP19_uc003cwd.2_5'Flank|USP19_uc011bci.2_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	1425	Domain alpha.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACAGCCGGCACCCCCACAAG	0.662													-	49160436	C	-	49160436	7	5	80	1	0	1	0	1	0	0	0	0	8611	507	18	0	1146	0	LAMB2	3	49160436	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	2119516	49160436	148861994	227	54169											
LAMB2	3913	broad.mit.edu	37	chr3	49161216	49161216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcggctgaggtgttgcGggcacctacgatgccctgca	17	11	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:49161216G>A	uc003cwe.2	-	24	4041	c.3742C>T	c.(3742-3744)CGC>TGC	p.R1248C		NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1248	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGGTGTTGCGGGCACCTACG	0.627													A	49161216	G	A	49161216	3	1	80	1	0	0	0	0	1	0	0	0	8611	1116	39	1	1690	1	LAMB2	3	49161216	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	780	49161216	148861214	228	54170											
UBA7	7318	broad.mit.edu	37	chr3	49850585	49850585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctcctccagctttgcaGcagtcagcaccaccacctgg	9	17	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:49850585G>A	uc003cxr.2	-	4	548	c.377C>T	c.(376-378)GCT>GTT	p.A126V		NM_003335	NP_003326	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	126	2 approximate repeats.|1-1.				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)		CAGCTTTGCAGCAGTCAGCAC	0.602													A	49850585	G	A	49850585	3	1	80	1	0	0	0	0	1	0	0	0	16830	971	34	2	2745	2	UBA7	3	49850585	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	689369	49850585	148171845	229	54171											
GNAT1	2779	broad.mit.edu	37	chr3	50231007	50231007	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgatgcccaaggagatgtcGgacatcatccagcggctgtg	13	11	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:50231007G>A	uc003cym.2	+	4	476	c.360G>A	c.(358-360)TCG>TCA	p.S120S	GNAT1_uc003cyl.2_Silent_p.S120S	NM_144499	NP_653082	P11488	GNAT1_HUMAN	rod-type transducin alpha subunit	120					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AGGAGATGTCGGACATCATCC	0.612													A	50231007	G	A	50231007	2	1	80	1	0	0	0	0	0	0	0	1	6511	1103	39	1		1	GNAT1	3	50231007	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	380422	50231007	147791423	230	54172											
C3orf45	132228	broad.mit.edu	37	chr3	50324510	50324510	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattcacagtgctgcagagTgaatccctgcgcatcctggc	10	14	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:50324510T>C	uc003cyz.2	+	4	399	c.372T>C	c.(370-372)AGT>AGC	p.S124S		NM_153215	NP_694947	Q8N112	CC045_HUMAN	hypothetical protein LOC132228	124						integral to membrane				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGCTGCAGAGTGAATCCCTGC	0.637													C	50324510	T	C	50324510	2	2	80	1	0	0	0	0	0	0	0	1	2231	1693	59	3		3	C3orf45	3	50324510	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	93503	50324510	147697920	231	54173											
HYAL1	3373	broad.mit.edu	37	chr3	50340261	50340261	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaccgtgcctctccaggcAccactgggtgtttgcattcc	9	16	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:50340261A>G	uc003czp.2	-	2	259	c.127T>C	c.(127-129)TGC>CGC	p.C43R	HYAL1_uc003czm.2_Intron|HYAL1_uc003czo.2_Intron|HYAL1_uc003czq.2_Missense_Mutation_p.C43R|HYAL1_uc003czr.2_Missense_Mutation_p.C43R|HYAL1_uc003czn.2_Intron|HYAL1_uc003czs.2_Missense_Mutation_p.C43R|HYAL1_uc003czt.2_Missense_Mutation_p.C43R	NM_033159	NP_149349	Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1 isoform 1	43						extracellular space|lysosome	hyalurononglucosaminidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	CTCTCCAGGCACCACTGGGTG	0.582													G	50340261	A	G	50340261	3	3	80	1	0	0	0	0	1	0	0	0	7463	159	6	3	1192	3	HYAL1	3	50340261	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	15751	50340261	147682169	232	54174											
TLR9	54106	broad.mit.edu	37	chr3	52256535	52256535	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagtccagggcccgcagCgacgtactgcagagctgctg	14	13	0	2	rs143900156	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:52256535C>T	uc003dda.1	-	2	2431	c.1797G>A	c.(1795-1797)TCG>TCA	p.S599S	TLR9_uc003ddb.2_Silent_p.S696S	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	599	Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GGGCCCGCAGCGACGTACTGC	0.612													T	52256535	C	T	52256535	2	4	80	1	0	0	0	0	0	0	0	1	15955	755	27	1		1	TLR9	3	52256535	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1916274	52256535	145765895	233	54175											
DNAH1	25981	broad.mit.edu	37	chr3	52412624	52412624	+	Frame_Shift_Del	DEL	C	C	-													tcctattcccccagctggggCcccccacattgcccacttca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:52412623_52412623GC>G	uc011bef.2	+	46	7465	c.7204_7204GC>G	c.(7204-7206)gccfs	p.A2402fs		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2402	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCAGCTGGGGCCCCCCACAT	0.627													-	52412624	C	-	52412624	7	5	80	1	0	1	0	1	0	0	0	0	4597	739	26	0	7387	0	DNAH1	3	52412624	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	156089	52412624	145609806	234	54176											
NEK4	6787	broad.mit.edu	37	chr3	52786314	52786314	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgacttcaagagaccagaGgccctgggtttctcctggga	14	10	2	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:52786314G>T	uc003dfq.3	-	7	1191	c.1002C>A	c.(1000-1002)GCC>GCA	p.A334A	NEK4_uc011bej.1_Silent_p.A245A|NEK4_uc003dfr.2_Silent_p.A334A	NM_003157	NP_003148	P51957	NEK4_HUMAN	NIMA-related kinase 4	334					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		AGAGACCAGAGGCCCTGGGTT	0.428													T	52786314	G	T	52786314	2	4	80	1	0	0	0	0	0	0	0	1	10326	987	35	5		5	NEK4	3	52786314	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	373690	52786314	145236116	235	54177											
ARHGEF3	50650	broad.mit.edu	37	chr3	56789110	56789110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtttcgtgctcgagggggCggcatttctggaccagggtc	16	11	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:56789110C>T	uc003dig.2	-	3	443	c.274G>A	c.(274-276)GCC>ACC	p.A92T	ARHGEF3_uc011bew.1_Missense_Mutation_p.A92T|ARHGEF3_uc003dih.2_Missense_Mutation_p.A124T|ARHGEF3_uc011bev.1_Missense_Mutation_p.A63T|ARHGEF3_uc003dif.2_Missense_Mutation_p.A98T|ARHGEF3_uc010hmy.1_5'UTR|ARHGEF3_uc003dii.2_Missense_Mutation_p.A92T	NM_019555	NP_062455	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor 3 isoform	92					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CTCGAGGGGGCGGCATTTCTG	0.542													T	56789110	C	T	56789110	3	4	80	1	0	0	0	0	1	0	0	0	904	768	27	1	1338	1	ARHGEF3	3	56789110	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	4002796	56789110	141233320	236	54178											
FLNB	2317	broad.mit.edu	37	chr3	58141774	58141774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgcaccctccgacgacgCccgccgcctcactgttatga	8	19	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:58141774C>T	uc003djj.2	+	41	7025	c.6860C>T	c.(6859-6861)GCC>GTC	p.A2287V	FLNB_uc010hne.2_Missense_Mutation_p.A2318V|FLNB_uc003djk.2_Missense_Mutation_p.A2276V|FLNB_uc010hnf.2_Missense_Mutation_p.A2263V|FLNB_uc003djl.2_Missense_Mutation_p.A2107V|FLNB_uc003djm.2_Missense_Mutation_p.A2094V	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	2287	Filamin 22.|Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCCGACGACGCCCGCCGCCTC	0.592													T	58141774	C	T	58141774	3	4	80	1	0	0	0	0	1	0	0	0	5934	739	26	2	7119	2	FLNB	3	58141774	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1352664	58141774	139880656	237	54179											
GPR27	2850	broad.mit.edu	37	chr3	71803351	71803351	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggagcgcagcctgcacCgcgccccgtactacctgctg	13	17	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:71803351C>A	uc011bge.1	+	1	151	c.151C>A	c.(151-153)CGC>AGC	p.R51S	EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_Intron|EIF4E3_uc010hoc.2_Intron	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	51	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		CAGCCTGCACCGCGCCCCGTA	0.642													A	71803351	C	A	71803351	3	1	80	1	0	0	0	0	1	0	0	0	6685	652	23	5	153	5	GPR27	3	71803351	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	13661577	71803351	126219079	238	54180											
CRYBG3	131544	broad.mit.edu	37	chr3	97611821	97611821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcacagaattggatcaattCgtgtcattggtggagtgtga	12	5	3	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:97611821C>T	uc003drx.2	+	8	1778	c.1714C>T	c.(1714-1716)CGT>TGT	p.R572C		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						TGGATCAATTCGTGTCATTGG	0.338													T	97611821	C	T	97611821	3	4	80	1	0	0	0	0	1	0	0	0	3913	884	31	1	1744	1	CRYBG3	3	97611821	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	25808470	97611821	100410609	239	54181											
DZIP3	9666	broad.mit.edu	37	chr3	108409687	108409687	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccaacgtgcagactccaCgttttgctaccagaagaatt	8	11	0	3	rs141475495	by1000genomes	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:108409687C>T	uc003dxd.2	+	32	3992	c.3570C>T	c.(3568-3570)CAC>CAT	p.H1190H	DZIP3_uc003dxf.1_Silent_p.H1190H|DZIP3_uc011bhm.1_Silent_p.H641H	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	1190					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GCAGACTCCACGTTTTGCTAC	0.483													T	108409687	C	T	108409687	2	4	80	1	0	0	0	0	0	0	0	1	4865	535	19	1		1	DZIP3	3	108409687	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	10797866	108409687	89612743	240	54182											
DPPA2	151871	broad.mit.edu	37	chr3	109027898	109027898	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgttcagggtaagcatgcCtatgaagcctcagataaact	10	8	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:109027898C>A	uc003dxo.2	-	5	618	c.371G>T	c.(370-372)AGG>ATG	p.R124M		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	124	SAP.					nucleus	nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)	3						GTAAGCATGCCTATGAAGCCT	0.428													A	109027898	C	A	109027898	3	1	80	1	0	0	0	0	1	0	0	0	4734	681	24	5	541	5	DPPA2	3	109027898	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	618211	109027898	88994532	241	54183											
C3orf15	89876	broad.mit.edu	37	chr3	119462963	119462963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggctgagcgccagcggCgggtacgagaggctgaagag	19	9	0	4	rs139653997		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:119462963C>T	uc003ede.3	+	14	1899	c.1822C>T	c.(1822-1824)CGG>TGG	p.R608W	C3orf15_uc010hqz.2_Missense_Mutation_p.R546W|C3orf15_uc011bjd.1_Missense_Mutation_p.R482W|C3orf15_uc011bje.1_Missense_Mutation_p.R588W	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	444						mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)		GCGCCAGCGGCGGGTACGAGA	0.587													T	119462963	C	T	119462963	3	4	80	1	0	0	0	0	1	0	0	0	2209	759	27	1	1876	1	C3orf15	3	119462963	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	10435065	119462963	78559467	242	54184											
CD86	942	broad.mit.edu	37	chr3	121838329	121838329	+	Frame_Shift_Del	DEL	T	T	-													atctgatgaagcccagcgtgTttttaaaagttcgaagacat							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:121838328_121838328GT>G	uc003eet.3	+	6	1065	c.937_937GT>G	c.(937-939)gttfs	p.V313fs	CD86_uc011bjo.2_Frame_Shift_Del_p.V231fs|CD86_uc011bjp.2_Frame_Shift_Del_p.V201fs|CD86_uc003eeu.3_Frame_Shift_Del_p.V307fs|CD86_uc021xcz.1_Frame_Shift_Del_p.V259fs	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	313					T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	AGCCCAGCGTGTTTTTAAAAG	0.323													-	121838329	T	-	121838329	7	5	80	1	0	1	0	1	0	0	0	0	3043	1725	60	0	964	0	CD86	3	121838329	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	2375366	121838329	76184101	243	54185											
PLXNA1	5361	broad.mit.edu	37	chr3	126724052	126724052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccactgccgctcaccctcCgcccgggaggtggcgcccat	11	19	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:126724052C>T	uc003ejg.2	+	6	1798	c.1794C>T	c.(1792-1794)TCC>TCT	p.S598S		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	621	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		GCTCACCCTCCGCCCGGGAGG	0.672													T	126724052	C	T	126724052	2	4	80	1	0	0	0	0	0	0	0	1	12119	639	23	1		1	PLXNA1	3	126724052	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	4885723	126724052	71298378	244	54186											
PLXNA1	5361	broad.mit.edu	37	chr3	126733355	126733355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcccgaggcagggcggcaCgcggctcactatcacaggcg	17	14	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:126733355C>T	uc003ejg.2	+	12	2574	c.2570C>T	c.(2569-2571)ACG>ATG	p.T857M		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	880	IPT/TIG 1.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CAGGGCGGCACGCGGCTCACT	0.697													T	126733355	C	T	126733355	3	4	80	1	0	0	0	0	1	0	0	0	12119	536	19	1	2685	1	PLXNA1	3	126733355	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	9303	126733355	71289075	245	54187											
ABTB1	80325	broad.mit.edu	37	chr3	127399132	127399132	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggtggagcgggaggacttCgtggaggcggtgaaggagga	22	5	0	1	rs140791161	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:127399132C>T	uc003ejt.2	+	12	1339	c.1251C>T	c.(1249-1251)TTC>TTT	p.F417F	ABTB1_uc003ejr.2_Silent_p.F275F|ABTB1_uc003ejs.2_Silent_p.F392F|ABTB1_uc003eju.2_Silent_p.F275F|ABTB1_uc010hsm.2_Silent_p.F144F	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	417						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0						GGGAGGACTTCGTGGAGGCGG	0.682													T	127399132	C	T	127399132	2	4	80	1	0	0	0	0	0	0	0	1	102	883	31	1		1	ABTB1	3	127399132	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	665777	127399132	70623298	246	54188											
MBD4	8930	broad.mit.edu	37	chr3	129156137	129156137	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacttttggatctgaacTtcagtccttgtgggctagaa	11	7	2	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:129156137T>G	uc003emh.1	-	3	526	c.350A>C	c.(349-351)AAG>ACG	p.K117T	IFT122_uc003eml.2_5'Flank|IFT122_uc003emm.2_5'Flank|IFT122_uc003emn.2_5'Flank|IFT122_uc003emo.2_5'Flank|IFT122_uc003emp.2_5'Flank|IFT122_uc010htc.2_5'Flank|IFT122_uc011bky.1_5'Flank|IFT122_uc003emq.2_5'Flank|MBD4_uc003emi.1_Missense_Mutation_p.K117T|MBD4_uc003emj.1_Missense_Mutation_p.K117T|MBD4_uc003emk.1_Intron|MBD4_uc011bkw.1_Missense_Mutation_p.K117T|IFT122_uc011bkx.1_5'Flank	NM_003925	NP_003916	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	117	MBD.				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			ovary(1)|lung(1)	2						GGATCTGAACTTCAGTCCTTG	0.333								BER_DNA_glycosylases					G	129156137	T	G	129156137	3	3	80	1	0	0	0	0	1	0	0	0	9346	1609	56	5	1416	5	MBD4	3	129156137	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	1757005	129156137	68866293	247	54189											
DNAJC13	23317	broad.mit.edu	37	chr3	132193825	132193825	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatttggaatttcaaaacaCgagaagaactgaaagatact	7	5	1	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:132193825C>T	uc003eor.2	+	22	2406	c.2341C>T	c.(2341-2343)CGA>TGA	p.R781*		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	781							heat shock protein binding			ovary(1)|breast(1)	2						TTTCAAAACACGAGAAGAACT	0.368													T	132193825	C	T	132193825	4	4	80	1	0	0	0	0	0	1	0	0	4632	528	19	1	2423	1	DNAJC13	3	132193825	Nonsense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3037688	132193825	65828605	248	54190											
DNAJC13	23317	broad.mit.edu	37	chr3	132211259	132211259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtttttatgattgtaggCgcctgatgatagagaagatt	13	3	0	5			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:132211259C>T	uc003eor.2	+	33	3690	c.3625C>T	c.(3625-3627)CGC>TGC	p.R1209C		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1209							heat shock protein binding			ovary(1)|breast(1)	2						TGATTGTAGGCGCCTGATGAT	0.373													T	132211259	C	T	132211259	3	4	80	1	0	0	0	0	1	0	0	0	4632	782	27	1	3751	1	DNAJC13	3	132211259	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	17434	132211259	65811171	249	54191											
ACAD11	84129	broad.mit.edu	37	chr3	132322086	132322086	+	Frame_Shift_Del	DEL	T	T	-													cactcaccactgctccaccaTtttttgccgttaattacata							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:132322086delT	uc003eov.3	-	13	1988	c.1608delA	c.(1606-1608)AAAfs	p.K536fs	ACAD11_uc011blr.1_Frame_Shift_Del_p.K147fs	NM_032169	NP_115545	Q709F0	ACD11_HUMAN	putative acyl-CoA dehydrogenase	536						peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups			ovary(1)	1						TGCTCCACCATTTTTTGCCGT	0.373													-	132322086	T	-	132322086	7	5	80	1	0	1	0	1	0	0	0	0	109	1490	52	0	766	0	ACAD11	3	132322086	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	110827	132322086	65700344	250	54192											
TOPBP1	11073	broad.mit.edu	37	chr3	133329880	133329880	+	Frame_Shift_Del	DEL	T	T	-													agattcttgtctttgctggaTtttttttctccatctcattg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:133329879_133329879AT>A	uc003eps.3	-	24	4274	c.4142_4142AT>T	c.(4141-4143)atcfs	p.I1381fs		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	1381					DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TCTTTGCTGGATTTTTTTTCT	0.343								Other conserved DNA damage response genes					-	133329880	T	-	133329880	7	5	80	1	0	1	0	1	0	0	0	0	16366	1493	52	0	443	0	TOPBP1	3	133329880	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	1007794	133329880	64692550	251	54193											
AMOTL2	51421	broad.mit.edu	37	chr3	134090119	134090119	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggatctccagggaggCctgggggctccctgtacccc	15	15	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:134090119C>A	uc003eqf.2	-	2	448	c.331G>T	c.(331-333)GCC>TCC	p.A111S	AMOTL2_uc003eqg.1_Missense_Mutation_p.A53S|AMOTL2_uc003eqh.1_Missense_Mutation_p.A53S	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	53										large_intestine(1)	1						TCCAGGGAGGCCTGGGGGCTC	0.692													A	134090119	C	A	134090119	3	1	80	1	0	0	0	0	1	0	0	0	584	739	26	5	2221	5	AMOTL2	3	134090119	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	760239	134090119	63932311	252	54194											
PPP2R3A	5523	broad.mit.edu	37	chr3	135721303	135721303	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctagcttacaactgactccCttctccccagtgtttggcac	6	16	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:135721303C>A	uc003eqv.1	+	2	1528	c.963C>A	c.(961-963)CCC>CCA	p.P321P	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	321					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						AACTGACTCCCTTCTCCCCAG	0.403													A	135721303	C	A	135721303	2	1	80	1	0	0	0	0	0	0	0	1	12388	668	24	5		5	PPP2R3A	3	135721303	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1631184	135721303	62301127	253	54195											
COPB2	9276	broad.mit.edu	37	chr3	139077962	139077962	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atactctgttgggtcagcaaGggattctgctgctttctgat	11	8	4	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:139077962G>T	uc003etf.3	-	19	2492	c.2362C>A	c.(2362-2364)CTT>ATT	p.L788I	COPB2_uc011bmv.1_Missense_Mutation_p.L759I|COPB2_uc010hui.2_Missense_Mutation_p.L759I	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	788					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2						GGGTCAGCAAGGGATTCTGCT	0.423													T	139077962	G	T	139077962	3	4	80	1	0	0	0	0	1	0	0	0	3729	1000	35	5	374	5	COPB2	3	139077962	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	3356659	139077962	58944468	254	54196											
COPB2	9276	broad.mit.edu	37	chr3	139090584	139090584	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaagaatcgtgggcccAtgcaaactcctgagcagatc	10	12	1	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:139090584A>G	uc003etf.3	-	10	1316	c.1186T>C	c.(1186-1188)TGG>CGG	p.W396R	COPB2_uc011bmv.1_Missense_Mutation_p.W367R|COPB2_uc010hui.2_Missense_Mutation_p.W367R	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	396	WD 8.				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2						TCGTGGGCCCATGCAAACTCC	0.458													G	139090584	A	G	139090584	3	3	80	1	0	0	0	0	1	0	0	0	3729	217	8	3	1586	3	COPB2	3	139090584	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	12622	139090584	58931846	255	54197											
SR140	23350	broad.mit.edu	37	chr3	142773947	142773948	+	Frame_Shift_Ins	INS	-	-	A													attctcctagagatgttagcINSaaaaaagccaaaaggtaaat							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:142773947_142773948insA	uc003evh.1	+	27	3036_3037	c.2937_2938insA	c.(2935-2940)AGCAAAfs	p.S979fs	SR140_uc003evi.1_Frame_Shift_Ins_p.S570fs|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Frame_Shift_Ins_p.S978fs	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	979_980	Arg/Ser-rich.				RNA processing	nucleus	nucleotide binding|RNA binding				0						GAGATGTTAGCAAAAAAGCCAA	0.391													A	142773948	-	A	142773947	7	5	80	1	0	1	1	0	0	0	0	0	15130	709	25	0	3043	0	SR140	3	142773947	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	3683363	142773947	55248483	256	54198											
MED12L	116931	broad.mit.edu	37	chr3	151112598	151112599	+	In_Frame_Ins	INS	-	-	GCA													tgatacagatgaagcttctgINScagcagcagcagcaacagcg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:151112597_151112598T>TGCA	uc003eyp.3	+	36	5786_5787	c.5657_5658T>TGCA	c.(5656-5658)ctg>cTGCA	p.L1886L	MED12L_uc011bnz.2_In_Frame_Ins_p.L1746L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1886	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGAAGCTTCTGCAGCAGCAGC	0.535													GCA	151112599	-	GCA	151112598	7	5	80	1	0	1	1	0	0	0	0	0	9429	1306	46	0	5804	0	MED12L	3	151112598	In_Frame_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	8338651	151112598	46909832	257	54199											
SUCNR1	56670	broad.mit.edu	37	chr3	151599161	151599161	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgtcatcaactccttttAcattgtgacacggcctttgg	9	11	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:151599161A>G	uc003ezf.1	+	3	929	c.830A>G	c.(829-831)TAC>TGC	p.Y277C		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	277	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	AACTCCTTTTACATTGTGACA	0.473													G	151599161	A	G	151599161	3	3	80	1	0	0	0	0	1	0	0	0	15365	391	14	3	836	3	SUCNR1	3	151599161	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	486563	151599161	46423269	258	54200											
LRRC31	79782	broad.mit.edu	37	chr3	169572614	169572614	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttactcagtgacatcacGtcatctgctgttagtgagca	8	10	4	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:169572614G>A	uc003fgc.1	-	6	1055	c.978C>T	c.(976-978)GAC>GAT	p.D326D	LRRC31_uc010hwp.1_Silent_p.D270D	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	326	LRR 4.									ovary(2)|skin(1)	3	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GTGACATCACGTCATCTGCTG	0.403													A	169572614	G	A	169572614	2	1	80	1	0	0	0	0	0	0	0	1	8986	1136	40	1		1	LRRC31	3	169572614	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	17973453	169572614	28449816	259	54201											
PHC3	80012	broad.mit.edu	37	chr3	169896635	169896636	+	In_Frame_Ins	INS	-	-	TGG													cgagaggaggaagtggtgatINSggtggtggtggtggtactgc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:169896634_169896635A>ATGG	uc003fgl.2	-	1	140_141	c.106_107T>CCAT	c.(106-108)atc>CCATc	p.I36P	PHC3_uc010hws.1_In_Frame_Ins_p.I24P|PHC3_uc011bpq.1_In_Frame_Ins_p.I36P|PHC3_uc011bpr.1_In_Frame_Ins_p.I36P|PHC3_uc003fgm.2_In_Frame_Ins_p.I36P|PHC3_uc003fgo.1_In_Frame_Ins_p.I24P|PHC3_uc003fgp.3_In_Frame_Ins_p.I36P|PHC3_uc003fgq.3_In_Frame_Ins_p.I36P|PHC3_uc003fgr.1_Non-coding_Transcript	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	24					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GGAAgtggtgatggtggtggtg	0.495													TGG	169896636	-	TGG	169896635	7	5	80	1	0	1	1	0	0	0	0	0	11818	1464	51	0	2937	0	PHC3	3	169896635	In_Frame_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	324021	169896635	28125795	260	54202											
NCEH1	57552	broad.mit.edu	37	chr3	172351857	172351857	+	Frame_Shift_Del	DEL	T	T	-													aagcttgtagtttgagcttaTtttttaggctggcatcttga							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:172351856_172351856AT>A	uc011bpx.2	-	4	894	c.756_756AT>T	c.(754-756)aatfs	p.N252fs	NCEH1_uc003fig.3_Frame_Shift_Del_p.N244fs|NCEH1_uc011bpw.2_Frame_Shift_Del_p.N79fs|NCEH1_uc011bpy.2_Frame_Shift_Del_p.N79fs	NM_001146276	NP_001139750	Q6PIU2	NCEH1_HUMAN	Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA.	212					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GTTTGAGCTTATTTTTTAGGC	0.373													-	172351857	T	-	172351857	7	5	80	1	0	1	0	1	0	0	0	0	10215	1493	52	0	595	0	NCEH1	3	172351857	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	2455222	172351857	25670573	261	54203											
NLGN1	22871	broad.mit.edu	37	chr3	173999004	173999004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccagggattcagcccttaCacacattcaatacatttact	4	12	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:173999004C>T	uc003fio.1	+	7	2806	c.2383C>T	c.(2383-2385)CAC>TAC	p.H795Y	NLGN1_uc003fip.1_Missense_Mutation_p.H795Y	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	812	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TCAGCCCTTACACACATTCAA	0.458													T	173999004	C	T	173999004	3	4	80	1	0	0	0	0	1	0	0	0	10461	478	17	4	2401	4	NLGN1	3	173999004	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1647147	173999004	24023426	262	54204											
CCDC39	339829	broad.mit.edu	37	chr3	180378490	180378490	+	Frame_Shift_Del	DEL	T	T	-													tgacatttcaaaccatccaaTttttgagtggctttaaatat							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:180378490delT	uc010hxe.2	-	4	499	c.384delA	c.(382-384)AAAfs	p.K128fs	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	128					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AACCATCCAATTTTTGAGTGG	0.368													-	180378490	T	-	180378490	7	5	80	1	0	1	0	1	0	0	0	0	2811	1490	52	0	2509	0	CCDC39	3	180378490	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	6379486	180378490	17643940	263	54205											
CCDC39	339829	broad.mit.edu	37	chr3	180379660	180379661	+	Frame_Shift_Del	DEL	TT	TT	-													aacatatacttctttatcacTtttcttttccagtattgaag							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:180379660_180379661delTT	uc010hxe.2	-	3	460_461	c.345_346delAA	c.(343-348)AAAAGTfs	p.K115fs	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	115_116	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTTTATCACTTTTCTTTTCCA	0.347													-	180379661	TT	-	180379660	7	5	80	1	0	1	0	1	0	0	0	0	2811	1609	56	0	2551	0	CCDC39	3	180379660	Frame_Shift_Del	DEL	TT	TCGA-BR-8368-01A-11D-2340-08	1170	180379660	17642770	264	54206											
B3GNT5	84002	broad.mit.edu	37	chr3	182987674	182987674	+	Frame_Shift_Del	DEL	T	T	-													gttttttagcgagcctcatgTttttttgggaaccaatcgat							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:182987673_182987673GT>G	uc003flm.3	+	1	610	c.87_87GT>G	c.(85-87)atgfs	p.M29fs	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003flk.3_Frame_Shift_Del_p.M29fs|B3GNT5_uc003fll.3_Frame_Shift_Del_p.M29fs|B3GNT5_uc021xic.1_Frame_Shift_Del_p.M29fs	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA.	29					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CGAGCCTCATGTTTTTTTGGG	0.353													-	182987674	T	-	182987674	7	5	80	1	0	1	0	1	0	0	0	0	1260	1725	60	0	90	0	B3GNT5	3	182987674	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	2608014	182987674	15034756	265	54207											
CHRD	8646	broad.mit.edu	37	chr3	184105718	184105718	+	Splice_Site	DEL	G	G	-													ttgctcaatggatccctacaGgggggcactggagaggtgca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:184105718delG	uc003fov.2	+	20	2698	c.2452_splice	c.e20-1	p.G818_splice	CHRD_uc003fow.2_Splice_Site_p.G448_splice|CHRD_uc003fox.2_Splice_Site_p.G818_splice|CHRD_uc003foy.2_Splice_Site_p.G448_splice|CHRD_uc010hyc.2_Splice_Site_p.G408_splice|CHRD_uc011brr.1_Splice_Site_p.G360_splice	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor						BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATCCCTACAGGGGGGCACTG	0.607													-	184105718	G	-	184105718	8	5	80	1	0	1	0	1	0	0	1	0	3372	1014	35	0	2529	0	CHRD	3	184105718	Splice_Site	DEL	G	TCGA-BR-8368-01A-11D-2340-08	1118044	184105718	13916712	266	54208											
RTP2	344892	broad.mit.edu	37	chr3	187416627	187416627	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtccaccaggccctcgatgtTctcctccagcatgctggact	9	16	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:187416627T>A	uc003fro.1	-	2	766	c.337A>T	c.(337-339)AAC>TAC	p.N113Y		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	receptor transporting protein 2	113	Cytoplasmic (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding				0	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CCCTCGATGTTCTCCTCCAGC	0.682													A	187416627	T	A	187416627	3	1	80	1	0	0	0	0	1	0	0	0	13734	1783	62	5	344	5	RTP2	3	187416627	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	3310909	187416627	10605803	267	54209											
DLG1	1739	broad.mit.edu	37	chr3	196817823	196817823	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggctagttcgaagagaacCtgaccctgaactaatactac	8	11	0	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:196817823C>A	uc003fxo.3	-	16	1910	c.1720G>T	c.(1720-1722)GGT>TGT	p.G574C	DLG1_uc011bub.1_Missense_Mutation_p.G458C|DLG1_uc011buc.1_Missense_Mutation_p.G458C|DLG1_uc011bud.1_Missense_Mutation_p.G257C|DLG1_uc003fxn.3_Missense_Mutation_p.G574C|DLG1_uc011bue.1_Missense_Mutation_p.G541C|DLG1_uc010ial.2_Missense_Mutation_p.G574C|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.G541C	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	574					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CGAAGAGAACCTGACCCTGAA	0.323													A	196817823	C	A	196817823	3	1	80	1	0	0	0	0	1	0	0	0	4554	681	24	5	1142	5	DLG1	3	196817823	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	9401196	196817823	1204607	268	54210											
DLG1	1739	broad.mit.edu	37	chr3	196857544	196857545	+	Splice_Site	INS	-	-	A													taaacatacgttattcacctINSaaaaaaagtcccaaaagaca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:196857544_196857545insA	uc003fxo.3	-	12	1310	c.1120_splice	c.e12-1	p.V374_splice	DLG1_uc011bub.1_Splice_Site_p.V258_splice|DLG1_uc011buc.1_Splice_Site_p.V258_splice|DLG1_uc011bud.1_Splice_Site_p.V57_splice|DLG1_uc003fxn.3_Splice_Site_p.V374_splice|DLG1_uc011bue.1_Splice_Site_p.V341_splice|DLG1_uc010ial.2_Splice_Site_p.V374_splice|DLG1_uc011buf.1_Splice_Site|DLG1_uc003fxp.2_Splice_Site|DLG1_uc010iam.1_Splice_Site_p.V341_splice|DLG1_uc010ian.2_Splice_Site_p.V241_splice	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1						actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GTTATTCACCTAAAAAAAGTCC	0.332													A	196857545	-	A	196857544	8	5	80	1	0	1	1	0	0	0	1	0	4554	1536	53	0	1760	0	DLG1	3	196857544	Splice_Site	INS	-	TCGA-BR-8368-01A-11D-2340-08	39721	196857544	1164886	269	54211	221	2									
DLG1	1739	broad.mit.edu	37	chr3	196857545	196857546	+	Splice_Site	INS	-	-	A													aaacatacgttattcacctaINSaaaaaagtcccaaaagacat							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:196857544_196857545T>TA	uc010ial.3	-	12	1379	c.1120_splice	c.e12-1	p.V374_splice	DLG1_uc011bub.2_Splice_Site_p.V258_splice|DLG1_uc011buc.2_Splice_Site_p.V258_splice|DLG1_uc011bud.2_Splice_Site_p.V57_splice|DLG1_uc003fxo.4_Splice_Site_p.V374_splice|DLG1_uc003fxn.4_Splice_Site_p.V374_splice|DLG1_uc011bue.2_Splice_Site_p.V341_splice|DLG1_uc011buf.1_Splice_Site|DLG1_uc003fxp.2_Splice_Site|DLG1_uc010iam.1_Splice_Site_p.V341_splice|DLG1_uc010ian.2_Splice_Site_p.V241_splice	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.	374	PDZ 2.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GTTATTCACCTAAAAAAAGTCC	0.332													A	196857546	-	A	196857545	8	5	80	1	0	1	1	0	0	0	1	0	4554	377	13	0		0	DLG1	3	196857545	Splice_Site	INS	-	TCGA-BR-8368-01A-11D-2340-08	1	196857545	1164885	270	54212	221	2									
KIAA0226	9711	broad.mit.edu	37	chr3	197408185	197408185	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcattctcgtggcagcActggcagaagtacttgccca	12	12	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:197408185A>C	uc003fyc.2	-	16	2428	c.2245T>G	c.(2245-2247)TGC>GGC	p.C749G	KIAA0226_uc003fyd.3_Missense_Mutation_p.C704G|KIAA0226_uc003fye.1_Missense_Mutation_p.C481G	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	749					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TCGTGGCAGCACTGGCAGAAG	0.527													C	197408185	A	C	197408185	3	2	80	1	0	0	0	0	1	0	0	0	8162	159	6	5	693	5	KIAA0226	3	197408185	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	550640	197408185	614245	271	54213											
FGFRL1	53834	broad.mit.edu	37	chr4	1016196	1016196	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagcgggaggatgccggCgtgtacgtgtgcaaggccac	19	9	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:1016196C>T	uc003gce.2	+	3	446	c.285C>T	c.(283-285)GGC>GGT	p.G95G	FGFRL1_uc003gcf.2_Silent_p.G95G|FGFRL1_uc003gcg.2_Silent_p.G95G|FGFRL1_uc010ibo.2_Silent_p.G95G	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	95	Ig-like C2-type 1.|Extracellular (Potential).				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGGATGCCGGCGTGTACGTGT	0.657													T	1016196	C	T	1016196	2	4	80	1	0	0	0	0	0	0	0	1	5869	755	27	1		1	FGFRL1	4	1016196	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08		1016196	190138080	272	54214											
WHSC1	7468	broad.mit.edu	37	chr4	1980430	1980430	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcgacttcattttgccacCtctgccccaattcgttctgt	5	15	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:1980430C>A	uc003gdz.3	+	22	4068	c.3892C>A	c.(3892-3894)CTC>ATC	p.L1298I	WHSC1_uc003geb.3_Missense_Mutation_p.L1298I|WHSC1_uc003gec.3_Missense_Mutation_p.L1298I|WHSC1_uc003ged.3_Missense_Mutation_p.L1298I|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.L517I|WHSC1_uc011bvh.1_Missense_Mutation_p.L359I|WHSC1_uc010icf.2_Missense_Mutation_p.L646I	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	1298					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		ATTTTGCCACCTCTGCCCCAA	0.557			T	IGH@	MM								A	1980430	C	A	1980430	3	1	80	1	0	0	0	0	1	0	0	0	17359	681	24	5	4050	5	WHSC1	4	1980430	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	964234	1980430	189173846	273	54215											
ZBTB49	166793	broad.mit.edu	37	chr4	4304738	4304739	+	Frame_Shift_Del	DEL	AG	AG	-													gtcccagacacttcagtcccAgagacaatacgcgtgtgaat							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:4304737_4304738CAG>C	uc003ghu.3	+	2	1349_1350	c.1174_1175CAG>C	c.(1174-1176)cagfs	p.Q392fs	ZBTB49_uc003ghv.3_5'UTR|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_Frame_Shift_Del_p.Q92fs	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA.	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						ACTTCAGTCCCAGAGACAATAC	0.48													-	4304739	AG	-	4304738	7	5	80	1	0	1	0	1	0	0	0	0	17547	188	7	0	1181	0	ZBTB49	4	4304738	Frame_Shift_Del	DEL	AG	TCGA-BR-8368-01A-11D-2340-08	2324308	4304738	186849538	274	54216											
WFS1	7466	broad.mit.edu	37	chr4	6303935	6303935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccaaggacatcgtgctgCgggccagcagcgagttcaag	13	12	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:6303935C>T	uc003giy.2	+	8	2579	c.2413C>T	c.(2413-2415)CGG>TGG	p.R805W	WFS1_uc003gix.2_Missense_Mutation_p.R805W|WFS1_uc003giz.2_Missense_Mutation_p.R623W	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	805					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)		CATCGTGCTGCGGGCCAGCAG	0.657													T	6303935	C	T	6303935	3	4	80	1	0	0	0	0	1	0	0	0	17357	759	27	1	2439	1	WFS1	4	6303935	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1999197	6303935	184850341	275	54217											
PPP2R2C	5522	broad.mit.edu	37	chr4	6331024	6331024	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggcacattcaaacttgtcGaaaatgcagtcgttctcgta	8	10	2	0	rs145291210		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:6331024G>A	uc003gjc.2	-	8	1387	c.1017C>T	c.(1015-1017)TTC>TTT	p.F339F	PPP2R2C_uc003gjb.2_Silent_p.F322F|PPP2R2C_uc011bwd.1_Silent_p.F332F|PPP2R2C_uc011bwe.1_Silent_p.F332F|PPP2R2C_uc003gja.2_Silent_p.F339F	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	339	WD 6.				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						CAAACTTGTCGAAAATGCAGT	0.592													A	6331024	G	A	6331024	2	1	80	1	0	0	0	0	0	0	0	1	12386	1049	37	1		1	PPP2R2C	4	6331024	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	27089	6331024	184823252	276	54218											
BOD1L	259282	broad.mit.edu	37	chr4	13610162	13610162	+	Frame_Shift_Del	DEL	T	T	-													taaaatatgtaccttgaatcTttttttctctttttgcttaa							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:13610162delT	uc003gmz.1	-	8	1851	c.1734delA	c.(1732-1734)AAAfs	p.K578fs	BOD1L_uc010idr.1_5'UTR	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	578	Lys-rich.						DNA binding			ovary(5)|breast(1)	6						ACCTTGAATCTTTTTTTCTCT	0.358													-	13610162	T	-	13610162	7	5	80	1	0	1	0	1	0	0	0	0	1483	1606	56	0	7497	0	BOD1L	4	13610162	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	7279138	13610162	177544114	277	54219											
CPEB2	132864	broad.mit.edu	37	chr4	15067820	15067820	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgaccagatgtgtgatgAatgccagggcgcacgctgtg	15	8	0	5			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:15067820A>G	uc003gni.1	+	11	1673	c.1586A>G	c.(1585-1587)GAA>GGA	p.E529G	CPEB2_uc003gnj.1_Missense_Mutation_p.E499G|CPEB2_uc003gnk.1_Missense_Mutation_p.E537G|CPEB2_uc003gnl.1_Missense_Mutation_p.E510G|CPEB2_uc003gnm.1_Missense_Mutation_p.E507G|CPEB2_uc003gnn.1_Missense_Mutation_p.E502G	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding	529					regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1						ATGTGTGATGAATGCCAGGGC	0.423													G	15067820	A	G	15067820	3	3	80	1	0	0	0	0	1	0	0	0	3801	246	9	3	2976	3	CPEB2	4	15067820	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	1457658	15067820	176086456	278	54220											
SEL1L3	23231	broad.mit.edu	37	chr4	25759394	25759394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggctgaaggactcctcGttactgtggctccagcacct	12	13	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:25759394G>A	uc003gru.3	-	22	3254	c.3102C>T	c.(3100-3102)AAC>AAT	p.N1034N	SEL1L3_uc003grt.2_Silent_p.N82N|SEL1L3_uc003grv.2_Silent_p.N441N	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	1034						integral to membrane	binding				0						AGGACTCCTCGTTACTGTGGC	0.567													A	25759394	G	A	25759394	2	1	80	1	0	0	0	0	0	0	0	1	14012	1136	40	1		1	SEL1L3	4	25759394	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	10691574	25759394	165394882	279	54221											
PCDH7	5099	broad.mit.edu	37	chr4	30726043	30726044	+	Frame_Shift_Ins	INS	-	-	C													aggcattacaaatctagttcINScccattgcctactgttcagc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:30726042_30726043T>TC	uc003gsk.1	+	0	4006_4007	c.2998_2999T>TC	c.(2998-3000)tccfs	p.S1000fs	PCDH7_uc011bxx.2_Frame_Shift_Ins_p.S1000fs|PCDH7_uc021xnd.1_Frame_Shift_Ins_p.S1000fs|PCDH7_uc021xnc.1_Frame_Shift_Ins_p.S1000fs	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	1000					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.Y1000*(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CAAATCTAGTTCCCCATTGCCT	0.525													C	30726044	-	C	30726043	7	5	80	1	0	1	1	0	0	0	0	0	11516	855	30	0	3001	0	PCDH7	4	30726043	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	4966649	30726043	160428233	280	54222											
RFC1	5981	broad.mit.edu	37	chr4	39308307	39308307	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccatcatctttgccggaaaAtttaccaaactttgctgcta	6	11	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:39308307A>T	uc003gty.1	-	14	2037	c.1903T>A	c.(1903-1905)TTT>ATT	p.F635I	RFC1_uc003gtx.1_Missense_Mutation_p.F634I	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	635					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4						TTGCCGGAAAATTTACCAAAC	0.448													T	39308307	A	T	39308307	3	4	80	1	0	0	0	0	1	0	0	0	13244	101	4	5	1591	5	RFC1	4	39308307	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	8582264	39308307	151845969	281	54223											
APBB2	323	broad.mit.edu	37	chr4	41016418	41016418	+	Splice_Site	DEL	G	G	-													tgtcaacacctgagtcagctGgggaaaaaaaaagtcattag							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:41016417_41016417TG>T	uc003gvn.3	-	6	650	c.20_splice	c.e6-1	p.A7_splice	APBB2_uc003gvl.3_Splice_Site_p.A7_splice|APBB2_uc003gvm.3_Splice_Site_p.A7_splice|APBB2_uc011byt.1_Splice_Site	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	7					cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTGAGTCAGCTGGGGAAAAAA	0.413													-	41016418	G	-	41016418	8	5	80	1	0	1	0	1	0	0	1	0	761	1363	47	0		0	APBB2	4	41016418	Splice_Site	DEL	G	TCGA-BR-8368-01A-11D-2340-08	1708111	41016418	150137858	282	54224											
SHISA3	152573	broad.mit.edu	37	chr4	42403209	42403209	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccatgatcctgacctccaCcagccccagggcaccctccc	7	22	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:42403209C>A	uc003gwp.2	+	2	676	c.458C>A	c.(457-459)ACC>AAC	p.T153N		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	shisa homolog 3 precursor	153	Cytoplasmic (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				ovary(1)|skin(1)	2						CTGACCTCCACCAGCCCCAGG	0.647													A	42403209	C	A	42403209	3	1	80	1	0	0	0	0	1	0	0	0	14281	507	18	5	464	5	SHISA3	4	42403209	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1386791	42403209	148751067	283	54225											
GABRB1	2560	broad.mit.edu	37	chr4	47427857	47427857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgcgaggcctacgggcGcgccctggaccggcacgggg	18	16	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:47427857G>A	uc003gxh.2	+	9	1621	c.1247G>A	c.(1246-1248)CGC>CAC	p.R416H	GABRB1_uc011bze.1_Missense_Mutation_p.R346H	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	416	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCCTACGGGCGCGCCCTGGAC	0.642													A	47427857	G	A	47427857	3	1	80	1	0	0	0	0	1	0	0	0	6166	1087	38	1	1281	1	GABRB1	4	47427857	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	5024648	47427857	143726419	284	54226											
FRYL	285527	broad.mit.edu	37	chr4	48566025	48566025	+	Frame_Shift_Del	DEL	G	G	-													ccgccaccctcccggagcccGtgtagcagcggtccacagcc					rs137912004	by1000genomes	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:48566024_48566024CG>C	uc003gyh.1	-	30	4142	c.3537_3537CG>G	c.(3535-3537)acgfs	p.T1179fs	FRYL_uc003gyk.3_Frame_Shift_Del_p.T1179fs|FRYL_uc003gyi.1_Frame_Shift_Del_p.T68fs	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1179					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCCCGGAGCCCGTGTAGCAGC	0.502													-	48566025	G	-	48566025	7	5	80	1	0	1	0	1	0	0	0	0	6064	1145	40	0	5641	0	FRYL	4	48566025	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	1138168	48566025	142588251	285	54227											
CLOCK	9575	broad.mit.edu	37	chr4	56345050	56345050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccatctttctagcattaCcaggaagcatggatcccagt	8	11	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:56345050C>T	uc003haz.1	-	7	1114	c.188G>A	c.(187-189)GGT>GAT	p.G63D	CLOCK_uc003hba.1_Missense_Mutation_p.G63D	NM_004898	NP_004889	O15516	CLOCK_HUMAN	clock	63	Helix-loop-helix motif.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			tctagcattaccaggaagcat	0.149													T	56345050	C	T	56345050	3	4	80	1	0	0	0	0	1	0	0	0	3549	507	18	4	2424	4	CLOCK	4	56345050	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	7779025	56345050	134809226	286	54228											
UGT2B10	7365	broad.mit.edu	37	chr4	69696564	69696564	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgttttgtttctggaagttTgctagaaaaggaaagaaggg	13	3	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:69696564T>C	uc003hee.2	+	6	1579	c.1554T>C	c.(1552-1554)TTT>TTC	p.F518F	UGT2B10_uc011cam.1_Silent_p.F434F	NM_001075	NP_001066	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2B10 isoform 1	518					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						TCTGGAAGTTTGCTAGAAAAG	0.393													C	69696564	T	C	69696564	2	2	80	1	0	0	0	0	0	0	0	1	16953	1809	63	3		3	UGT2B10	4	69696564	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	13351514	69696564	121457712	287	54229											
NPFFR2	10886	broad.mit.edu	37	chr4	72897770	72897770	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcggaagcctggagtggaGcaggcagtccgcgggggaca	20	9	0	0	rs146044348	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:72897770G>T	uc003hgg.2	+	1	250	c.152G>T	c.(151-153)AGC>ATC	p.S51I	NPFFR2_uc010iig.1_5'UTR	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	51	Extracellular (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CTGGAGTGGAGCAGGCAGTCC	0.677													T	72897770	G	T	72897770	3	4	80	1	0	0	0	0	1	0	0	0	10578	971	34	5	154	5	NPFFR2	4	72897770	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	3201206	72897770	118256506	288	54230											
C4orf26	152816	broad.mit.edu	37	chr4	76481344	76481344	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tactggtatgctggttggtgGtaactgtggcagaaggtaag	16	4	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:76481344G>C	uc003hip.1	+	1	87	c.52G>C	c.(52-54)GTA>CTA	p.V18L	C4orf26_uc011cbn.1_RNA|C4orf26_uc011cbo.1_Missense_Mutation_p.V18L	NM_178497	NP_848592	Q17RF5	CD026_HUMAN	hypothetical protein LOC152816 precursor	18						extracellular region					0			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTGGTTGGTGGTAACTGTGGC	0.443													C	76481344	G	C	76481344	3	2	80	1	0	0	0	0	1	0	0	0	2257	1261	44	5	54	5	C4orf26	4	76481344	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	3583574	76481344	114672932	289	54231											
SHROOM3	57619	broad.mit.edu	37	chr4	77663059	77663059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtccaggtcatctcccGccaccgcagacaagcgccag	11	16	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:77663059G>A	uc011cbx.1	+	5	4686	c.3733G>A	c.(3733-3735)GCC>ACC	p.A1245T	SHROOM3_uc011cbz.1_Missense_Mutation_p.A1069T|SHROOM3_uc003hkf.1_Missense_Mutation_p.A1120T|SHROOM3_uc003hkg.2_Missense_Mutation_p.A1023T	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1245					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			GTCATCTCCCGCCACCGCAGA	0.657													A	77663059	G	A	77663059	3	1	80	1	0	0	0	0	1	0	0	0	14295	1087	38	1	3751	1	SHROOM3	4	77663059	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1181715	77663059	113491217	290	54232											
C4orf22	255119	broad.mit.edu	37	chr4	81791254	81791255	+	Frame_Shift_Ins	INS	-	-	A													ttgaagtctactttactggaINSaaaaaaagacttcttccaag					rs146690045		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:81791253_81791254G>GA	uc010ijp.3	+	4	540_541	c.491_492G>GA	c.(490-492)ggafs	p.G164fs	C4orf22_uc003hmf.3_Frame_Shift_Ins_p.G147fs	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	147								p.G147E(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TACTTTACTGGAAAAAAAAGAC	0.371													A	81791255	-	A	81791254	7	5	80	1	0	1	1	0	0	0	0	0	2255	233	9	0	455	0	C4orf22	4	81791254	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	4128195	81791254	109363022	291	54233											
WDFY3	23001	broad.mit.edu	37	chr4	85707176	85707176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatttgttatacactttccGgattcttgccactgttagag	7	9	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:85707176G>A	uc003hpd.2	-	24	4426	c.4018C>T	c.(4018-4020)CGG>TGG	p.R1340W		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1340						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TACACTTTCCGGATTCTTGCC	0.463													A	85707176	G	A	85707176	3	1	80	1	0	0	0	0	1	0	0	0	17267	1115	39	1	6742	1	WDFY3	4	85707176	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	3915922	85707176	105447100	292	54234											
SLC10A6	345274	broad.mit.edu	37	chr4	87769943	87769943	+	Frame_Shift_Del	DEL	C	C	-													tgaaaatgttagagatggtgCcccccgggcagcagcccatg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:87769943delC	uc003hqd.2	-	1	474	c.326delG	c.(325-327)GGCfs	p.G109fs		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	sodium-dependent organic anion transporter	109	Helical; (Potential).					integral to membrane|plasma membrane	bile acid:sodium symporter activity				0		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		AGAGATGGTGCCCCCCGGGCA	0.502													-	87769943	C	-	87769943	7	5	80	1	0	1	0	1	0	0	0	0	14378	739	26	0	831	0	SLC10A6	4	87769943	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	2062767	87769943	103384333	293	54235											
KLHL8	57563	broad.mit.edu	37	chr4	88091723	88091723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattgtcatctaaccctccaAttgcataaattgggcctcct	5	12	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:88091723A>G	uc011cdb.1	-	7	1638	c.1253T>C	c.(1252-1254)ATT>ACT	p.I418T	KLHL8_uc003hql.1_Missense_Mutation_p.I418T|KLHL8_uc003hqm.1_Missense_Mutation_p.I342T|KLHL8_uc003hqn.1_Missense_Mutation_p.I235T|KLHL8_uc010ikj.1_Missense_Mutation_p.I67T	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	kelch-like 8	418	Kelch 3.										0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TAACCCTCCAATTGCATAAAT	0.413													G	88091723	A	G	88091723	3	3	80	1	0	0	0	0	1	0	0	0	8395	101	4	3	625	3	KLHL8	4	88091723	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	321780	88091723	103062553	294	54236											
RG9MTD2	93587	broad.mit.edu	37	chr4	100479335	100479335	+	Frame_Shift_Del	DEL	T	T	-													atttgacattgtcgctctaaTtttttcctcttgcgtttttc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:100479335delT	uc003huy.2	-	3	532	c.219delA	c.(217-219)AAAfs	p.K73fs	RG9MTD2_uc003huz.3_Frame_Shift_Del_p.K73fs|RG9MTD2_uc003hva.3_Frame_Shift_Del_p.K73fs	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	RNA (guanine-9-) methyltransferase domain	73	Potential.						methyltransferase activity			ovary(2)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		GTCGCTCTAATTTTTTCCTCT	0.328													-	100479335	T	-	100479335	7	5	80	1	0	1	0	1	0	0	0	0	13272	1490	52	0	824	0	RG9MTD2	4	100479335	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	12387612	100479335	90674941	295	54237											
ADAD1	132612	broad.mit.edu	37	chr4	123302332	123302332	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accttaaggaaactgtgacaAcaggcaagtgtaaaattgta	9	6	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:123302332A>G	uc003ieo.2	+	4	590	c.358A>G	c.(358-360)ACA>GCA	p.T120A	ADAD1_uc003iep.2_Missense_Mutation_p.T120A|ADAD1_uc003ieq.2_Missense_Mutation_p.T102A	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	120	DRBM.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						AACTGTGACAACAGGCAAGTG	0.353													G	123302332	A	G	123302332	3	3	80	1	0	0	0	0	1	0	0	0	231	43	2	3	364	3	ADAD1	4	123302332	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	22822997	123302332	67851944	296	54238											
ANKRD50	57182	broad.mit.edu	37	chr4	125591535	125591535	+	Frame_Shift_Del	DEL	A	A	-													ctacgtttgcaccattttctAaaaaatattcggccattgta							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:125591535delA	uc003ifg.3	-	3	3163	c.2897delT	c.(2896-2898)TTAfs	p.L966fs	ANKRD50_uc011cgo.1_Frame_Shift_Del_p.L787fs|ANKRD50_uc010inw.2_Frame_Shift_Del_p.L966fs	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	966	ANK 15.									central_nervous_system(1)	1						ACCATTTTCTAAAAAATATTC	0.428													-	125591535	A	-	125591535	7	5	80	1	0	1	0	1	0	0	0	0	677	372	13	0	1396	0	ANKRD50	4	125591535	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	2289203	125591535	65562741	297	54239											
FAT4	79633	broad.mit.edu	37	chr4	126238516	126238516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggacttcgaagctcggcGccaatactcgcttacggtgc	11	14	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:126238516G>A	uc003ifj.3	+	1	950	c.950G>A	c.(949-951)CGC>CAC	p.R317H		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	317	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GAAGCTCGGCGCCAATACTCG	0.627											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	126238516	G	A	126238516	3	1	80	1	0	0	0	0	1	0	0	0	5692	1087	38	1	952	1	FAT4	4	126238516	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	646981	126238516	64915760	298	54240											
HHIP	64399	broad.mit.edu	37	chr4	145629414	145629414	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaacccacacttcaacagcAccaaccagccccccgaagtg	6	19	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:145629414A>G	uc003ijs.1	+	7	1907	c.1252A>G	c.(1252-1254)ACC>GCC	p.T418A		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	418						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CTTCAACAGCACCAACCAGCC	0.542													G	145629414	A	G	145629414	3	3	80	1	0	0	0	0	1	0	0	0	7092	159	6	3	1278	3	HHIP	4	145629414	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	19390898	145629414	45524862	299	54241											
DCHS2	54798	broad.mit.edu	37	chr4	155243618	155243618	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcaccattgttggcgtcaatCttaaagtgatcagaactatc	7	9	4	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:155243618C>A	uc003inw.2	-	13	2676	c.2676G>T	c.(2674-2676)AAG>AAT	p.K892N		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	892	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGCGTCAATCTTAAAGTGAT	0.348													A	155243618	C	A	155243618	3	1	80	1	0	0	0	0	1	0	0	0	4288	912	32	5	6126	5	DCHS2	4	155243618	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	9614204	155243618	35910658	300	54242											
FNIP2	57600	broad.mit.edu	37	chr4	159756589	159756589	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagttgatatgccaagcagaGgacagaatgaagacagggac	13	7	0	5			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:159756589G>T	uc003iqe.3	+	7	871	c.688G>T	c.(688-690)GGA>TGA	p.G230*		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	230					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GCCAAGCAGAGGACAGAATGA	0.408													T	159756589	G	T	159756589	4	4	80	1	0	0	0	0	0	1	0	0	5976	1001	35	5	714	5	FNIP2	4	159756589	Nonsense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	4512971	159756589	31397687	301	54243											
SC4MOL	6307	broad.mit.edu	37	chr4	166254715	166254715	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaagccctttatttcttaTtctgtttacctggattttta	5	7	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:166254715T>C	uc003ire.2	+	2	323	c.193T>C	c.(193-195)TTC>CTC	p.F65L	SC4MOL_uc010irb.2_Missense_Mutation_p.F65L|SC4MOL_uc003irf.2_Intron	NM_006745	NP_006736	Q15800	ERG25_HUMAN	sterol-C4-methyl oxidase-like isoform 1	65	Helical; (Potential).				cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding				0	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0875)	NADH(DB00157)	TTATTTCTTATTCTGTTTACC	0.274													C	166254715	T	C	166254715	3	2	80	1	0	0	0	0	1	0	0	0	13865	1493	52	3	195	3	SC4MOL	4	166254715	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	6498126	166254715	24899561	302	54244											
ODZ3	55714	broad.mit.edu	37	chr4	183714323	183714323	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catttactgaacccaagtaaCagtgcgcgtctgacacccct	7	14	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:183714323C>A	uc003ivd.1	+	25	6535	c.6498C>A	c.(6496-6498)AAC>AAA	p.N2166K		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2166	Extracellular (Potential).|YD 19.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ACCCAAGTAACAGTGCGCGTC	0.453													A	183714323	C	A	183714323	3	1	80	1	0	0	0	0	1	0	0	0	10836	477	17	5	6596	5	ODZ3	4	183714323	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	17459608	183714323	7439953	303	54245											
EXOC3	11336	broad.mit.edu	37	chr5	464452	464452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtggctattagggtcaaaCgctgtagacattatctgtgt	11	6	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:464452C>T	uc003jba.2	+	10	1829	c.1701C>T	c.(1699-1701)AAC>AAT	p.N567N		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Sec6 protein	578					exocytosis|protein transport						0		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TAGGGTCAAACGCTGTAGACA	0.418													T	464452	C	T	464452	2	4	80	1	0	0	0	0	0	0	0	1	5303	535	19	1		1	EXOC3	5	464452	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08		464452	180450808	304	54246											
TRIO	7204	broad.mit.edu	37	chr5	14482694	14482694	+	Frame_Shift_Del	DEL	A	A	-													tttatttcttgttttaggggAaaatcgttgcccagggtaaa							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:14482694delA	uc003jff.2	+	46	6475	c.6469delA	c.(6469-6471)AAAfs	p.K2157fs	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Frame_Shift_Del_p.K1806fs	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2157	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GTTTTAGGGGAAAATCGTTGC	0.453													-	14482694	A	-	14482694	7	5	80	1	0	1	0	1	0	0	0	0	16549	247	9	0	6651	0	TRIO	5	14482694	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	14018242	14482694	166432566	305	54247											
CDH6	1004	broad.mit.edu	37	chr5	31297469	31297469	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacagtgctaaagttgtctaCagtattctacagggacagcc	9	9	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:31297469C>A	uc003jhe.1	+	4	923	c.597C>A	c.(595-597)TAC>TAA	p.Y199*	CDH6_uc003jhd.1_Nonsense_Mutation_p.Y199*	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	199	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						AAGTTGTCTACAGTATTCTAC	0.353													A	31297469	C	A	31297469	4	1	80	1	0	0	0	0	0	1	0	0	3114	489	17	5	607	5	CDH6	5	31297469	Nonsense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	16814775	31297469	149617791	306	54248											
TTC33	23548	broad.mit.edu	37	chr5	40716477	40716477	+	Frame_Shift_Del	DEL	T	T	-													tacttcagctggtgcttcacTttttttaatcctctgtgcta							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:40716477delT	uc003jma.2	-	5	707	c.559delA	c.(559-561)AGTfs	p.S187fs	TTC33_uc011cpm.1_Frame_Shift_Del_p.S79fs|TTC33_uc010ivg.2_3'UTR	NM_012382	NP_036514	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	187							binding			ovary(1)	1						GGTGCTTCACTTTTTTTAATC	0.428													-	40716477	T	-	40716477	7	5	80	1	0	1	0	1	0	0	0	0	16699	1609	56	0	233	0	TTC33	5	40716477	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	9419008	40716477	140198783	307	54249											
ITGA1	3672	broad.mit.edu	37	chr5	52194127	52194127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatggaacagttgtcatgcAgaaggctagtcaaatcataa	10	6	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:52194127A>G	uc003jou.2	+	11	1275	c.1223A>G	c.(1222-1224)CAG>CGG	p.Q408R	ITGA1_uc003jov.2_RNA	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	408	Extracellular (Potential).|FG-GAP 3.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GTTGTCATGCAGAAGGCTAGT	0.348													G	52194127	A	G	52194127	3	3	80	1	0	0	0	0	1	0	0	0	7872	188	7	3	1265	3	ITGA1	5	52194127	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	11477650	52194127	128721133	308	54250											
SNX18	112574	broad.mit.edu	37	chr5	53815059	53815059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacctgcaggaggtggagaGcaagatcgacggcttcaagt	15	8	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:53815059G>A	uc003jpj.3	+	1	1467	c.1277G>A	c.(1276-1278)AGC>AAC	p.S426N	SNX18_uc011cqg.1_Missense_Mutation_p.S426N|SNX18_uc003jpi.3_Missense_Mutation_p.S426N	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	sorting nexin 18 isoform b	426	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding				0		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GAGGTGGAGAGCAAGATCGAC	0.632													A	53815059	G	A	53815059	3	1	80	1	0	0	0	0	1	0	0	0	14889	971	34	2	1279	2	SNX18	5	53815059	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1620932	53815059	127100201	309	54251											
C5orf35	133383	broad.mit.edu	37	chr5	56209750	56209750	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttaaaaatgagtgatagtAcatggctaacgtcagaaatt	8	5	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:56209750A>G	uc003jqx.2	+	4	1013	c.640A>G	c.(640-642)ACA>GCA	p.T214A	C5orf35_uc003jqy.2_RNA	NM_153706	NP_714917	Q8NE22	CE035_HUMAN	hypothetical protein LOC133383	214										ovary(1)	1		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.173)		OV - Ovarian serous cystadenocarcinoma(10;2.58e-39)		GAGTGATAGTACATGGCTAAC	0.413													G	56209750	A	G	56209750	3	3	80	1	0	0	0	0	1	0	0	0	2294	391	14	3	654	3	C5orf35	5	56209750	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	2394691	56209750	124705510	310	54252											
HTR1A	3350	broad.mit.edu	37	chr5	63256737	63256744	+	Frame_Shift_Del	DEL	CTTGCTCT	CTTGCTCT	-													gcgcacagagcacccccagcCttgctctccacgcccagcct							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:63256736_63256743CCTTGCTCT>C	uc011cqt.2	-	0	804_811	c.804_811AGAGCAAGG>G	c.(802-813)gagagcaaggctfs	p.E268fs		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	268					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.V267M(1)|p.E268*(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCACCCCCAGCCTTGCTCTCCACGCCCA	0.659													-	63256744	CTTGCTCT	-	63256737	7	5	80	1	0	1	0	1	0	0	0	0	7436	680	24	0	461	0	HTR1A	5	63256737	Frame_Shift_Del	DEL	CTTGCTCT	TCGA-BR-8368-01A-11D-2340-08	7046987	63256737	117658523	311	54253											
MSH3	4437	broad.mit.edu	37	chr5	79970915	79970916	+	Frame_Shift_Ins	INS	-	-	A													taaggaaaatgttagggacaINSaaaaaaagggcaacattttt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:79970914_79970915C>CA	uc003kgz.3	+	6	1393_1394	c.1140_1141C>CA	c.(1138-1143)gacaaafs	p.D380fs		NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	380					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATGTTAGGGACAAAAAAAAGGG	0.347								Mismatch excision repair (MMR)					A	79970916	-	A	79970915	7	5	80	1	0	1	1	0	0	0	0	0	9871	131	5	0	1167	0	MSH3	5	79970915	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	16714178	79970915	100944345	312	54254											
VCAN	1462	broad.mit.edu	37	chr5	82835591	82835591	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctcttattctctggactgGgatcaggagaagaagtttta	11	6	3	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:82835591G>T	uc003kii.3	+	8	7125	c.6769G>T	c.(6769-6771)GGA>TGA	p.G2257*	VCAN_uc003kij.3_Nonsense_Mutation_p.G1270*|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Nonsense_Mutation_p.G921*	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2257	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTCTGGACTGGGATCAGGAGA	0.378													T	82835591	G	T	82835591	4	4	80	1	0	0	0	0	0	1	0	0	17135	1233	43	5	6795	5	VCAN	5	82835591	Nonsense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2864676	82835591	98079669	313	54255											
POU5F2	134187	broad.mit.edu	37	chr5	93076993	93076993	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccttcggaggggcgtcGcaaccagtcccctgcctcac	13	17	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:93076993G>A	uc003kkl.1	-	1	317	c.277C>T	c.(277-279)CGA>TGA	p.R93*	FAM172A_uc010jbd.2_Intron|FAM172A_uc011cuf.1_Intron|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_Intron|FAM172A_uc011cuj.1_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	93						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GAGGGGCGTCGCAACCAGTCC	0.652													A	93076993	G	A	93076993	4	1	80	1	0	0	0	0	0	1	0	0	12283	1095	38	1	713	1	POU5F2	5	93076993	Nonsense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	10241402	93076993	87838267	314	54256											
PGGT1B	5229	broad.mit.edu	37	chr5	114552569	114552570	+	Frame_Shift_Ins	INS	-	-	C													gaaaataattacctggatgaINSctgtctggccacttggcaaa							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:114552569_114552570insC	uc003kqw.3	-	8	965_966	c.944_945insG	c.(943-945)AGTfs	p.S315fs	PGGT1B_uc003kqx.3_Frame_Shift_Ins_p.S192fs|PGGT1B_uc010jch.2_Frame_Shift_Ins_p.S238fs	NM_005023	NP_005014	P53609	PGTB1_HUMAN	geranylgeranyltransferase type 1 beta	315	PFTB 4.				protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity				0		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	TACCTGGATGACTGTCTGGCCA	0.327													C	114552570	-	C	114552569	7	5	80	1	0	1	1	0	0	0	0	0	11789	272	10	0	196	0	PGGT1B	5	114552569	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	21475576	114552569	66362691	315	54257	222	2									
PGGT1B	5229	broad.mit.edu	37	chr5	114552570	114552571	+	Frame_Shift_Ins	INS	-	-	C													aaaataattacctggatgacINStgtctggccacttggcaaat							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:114552569_114552570A>AC	uc003kqw.4	-	7	965_966	c.944_945T>GT	c.(943-945)agtfs	p.S315fs	PGGT1B_uc010jch.3_Frame_Shift_Ins_p.S238fs	NM_005023	NP_005014	P53609	PGTB1_HUMAN	Homo sapiens protein geranylgeranyltransferase type I, beta subunit (PGGT1B), mRNA.	315					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	TACCTGGATGACTGTCTGGCCA	0.327													C	114552571	-	C	114552570	7	5	80	1	0	1	1	0	0	0	0	0	11789	565	20	0	197	0	PGGT1B	5	114552570	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	1	114552570	66362690	316	54258	222	2									
DMXL1	1657	broad.mit.edu	37	chr5	118507479	118507479	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttgtttttaaggaaacaTcagaaccactattttctagc	5	8	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:118507479T>C	uc003ksd.2	+	25	6677	c.6496T>C	c.(6496-6498)TCA>CCA	p.S2166P	DMXL1_uc010jcl.1_Missense_Mutation_p.S2166P	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2166										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TAAGGAAACATCAGAACCACT	0.378													C	118507479	T	C	118507479	3	2	80	1	0	0	0	0	1	0	0	0	4594	1435	50	3	6594	3	DMXL1	5	118507479	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	3954909	118507479	62407781	317	54259											
ZNF474	133923	broad.mit.edu	37	chr5	121488779	121488779	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtgccctctgcctgtAggggaacaagagaaaactat	13	8	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:121488779A>G	uc003ksv.2	+	2	1470	c.1094A>G	c.(1093-1095)TAG>TGG	p.*365W		NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	365						intracellular	zinc ion binding				0		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		CTCTGCCTGTAGGGGAACAAG	0.483													G	121488779	A	G	121488779	4	3	80	1	0	0	0	0	0	0	0	0	17929	433	15	3	1096	3	ZNF474	5	121488779	Nonstop_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	2981300	121488779	59426481	318	54260											
GFRA3	2676	broad.mit.edu	37	chr5	137593489	137593489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccctgcgcgtggggctcGgcggccttctcgaagaaagt	16	12	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:137593489G>A	uc003lcn.2	-	4	764	c.624C>T	c.(622-624)GCC>GCT	p.A208A	GFRA3_uc003lco.2_Silent_p.A177A	NM_001496	NP_001487	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3 preproprotein	208					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGTGGGGCTCGGCGGCCTTCT	0.726													A	137593489	G	A	137593489	2	1	80	1	0	0	0	0	0	0	0	1	6349	1103	39	1		1	GFRA3	5	137593489	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	16104710	137593489	43321771	319	54261											
SLC23A1	9963	broad.mit.edu	37	chr5	138715024	138715024	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggacagcagccgcagtcacCgtgggcaggccccactgacc	13	16	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:138715024C>A	uc003leh.2	-	9	1042	c.945G>T	c.(943-945)ACG>ACT	p.T315T	SLC23A1_uc003leg.2_Silent_p.T319T	NM_005847	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (nucleobase	315	Helical; (Potential).				brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CCGCAGTCACCGTGGGCAGGC	0.602													A	138715024	C	A	138715024	2	1	80	1	0	0	0	0	0	0	0	1	14462	639	23	5		5	SLC23A1	5	138715024	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1121535	138715024	42200236	320	54262											
NRG2	9542	broad.mit.edu	37	chr5	139422136	139422136	+	Frame_Shift_Del	DEL	C	C	-													atcacctgctcgcgctgcagCcccccgctccggagcggcca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:139422135_139422135GC>G	uc003lev.2	-	0	750	c.520_520GC>C	c.(520-522)ctgfs	p.L174fs	NRG2_uc003lew.2_Frame_Shift_Del_p.L174fs|NRG2_uc003lex.2_Frame_Shift_Del_p.L174fs|NRG2_uc003ley.2_Frame_Shift_Del_p.L174fs|NRG2_uc021yed.1_Frame_Shift_Del_p.L174fs	NM_013982	NP_053585	O14511	NRG2_HUMAN	Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA.	174					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGCTGCAGCCCCCCGCTC	0.662													-	139422136	C	-	139422136	7	5	80	1	0	1	0	1	0	0	0	0	10648	726	26	0	2164	0	NRG2	5	139422136	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	707112	139422136	41493124	321	54263											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139886500	139886500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccactgagtctagctgcGtctggaggatatgttaatat	10	8	2	1	rs138245853	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:139886500G>A	uc003lfs.1	+	19	3613	c.3489G>A	c.(3487-3489)GCG>GCA	p.A1163A	ANKHD1_uc003lfq.1_Silent_p.A1182A|ANKHD1_uc003lfr.2_Silent_p.A1163A|ANKHD1_uc003lft.1_Silent_p.A374A|ANKHD1_uc003lfu.1_Silent_p.A643A|ANKHD1_uc003lfv.1_Silent_p.A240A|ANKHD1-EIF4EBP3_uc011czh.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1163						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTAGCTGCGTCTGGAGGAT	0.373													A	139886500	G	A	139886500	2	1	80	1	0	0	0	0	0	0	0	1	629	1132	40	1		1	ANKHD1-EIF4EBP3	5	139886500	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	464364	139886500	41028760	322	54264											
APBB3	10307	broad.mit.edu	37	chr5	139938321	139938321	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggaatccatggagctggtcCgcttgagccgcaggcgggca	17	11	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:139938321C>A	uc003lgd.1	-	12	1684	c.1325G>T	c.(1324-1326)CGG>CTG	p.R442L	SRA1_uc003lfz.2_5'Flank|SRA1_uc010jfm.2_5'Flank|SRA1_uc003lga.2_5'Flank|APBB3_uc003lgb.1_Missense_Mutation_p.R214L|APBB3_uc003lgc.1_Missense_Mutation_p.R214L|APBB3_uc003lge.1_Missense_Mutation_p.R435L|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_Missense_Mutation_p.R214L	NM_133172	NP_573418	O95704	APBB3_HUMAN	amyloid beta precursor protein-binding, family	437	PID 2.					actin cytoskeleton|cytoplasm				ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGGTCCGCTTGAGCCG	0.667													A	139938321	C	A	139938321	3	1	80	1	0	0	0	0	1	0	0	0	762	652	23	5	154	5	APBB3	5	139938321	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	51821	139938321	40976939	323	54265											
PCDHA2	56146	broad.mit.edu	37	chr5	140176039	140176039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctactcgctggtggagcGgcgggtgggcgagcgcgcgt	20	11	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140176039G>A	uc003lhd.2	+	1	1596	c.1490G>A	c.(1489-1491)CGG>CAG	p.R497Q	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.R497Q|PCDHA2_uc011czy.1_Missense_Mutation_p.R497Q	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	497	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGAGCGGCGGGTGGGC	0.672													A	140176039	G	A	140176039	3	1	80	1	0	0	0	0	1	0	0	0	11524	1116	39	1	1492	1	PCDHA2	5	140176039	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	237718	140176039	40739221	324	54266											
PCDHA3	56145	broad.mit.edu	37	chr5	140182650	140182650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgcgcgcatcccgtttcGcgtggggctgtacacgggag	17	12	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140182650G>A	uc003lhf.2	+	1	1868	c.1868G>A	c.(1867-1869)CGC>CAC	p.R623H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.R623H	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	623	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCCGTTTCGCGTGGGGCTG	0.657													A	140182650	G	A	140182650	3	1	80	1	0	0	0	0	1	0	0	0	11525	1087	38	1	1870	1	PCDHA3	5	140182650	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	6611	140182650	40732610	325	54267											
PCDHA6	56142	broad.mit.edu	37	chr5	140208784	140208784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaatttggtactgtcatcGccctaattagcgtgaacgac	8	11	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140208784G>A	uc003lho.2	+	1	1135	c.1108G>A	c.(1108-1110)GCC>ACC	p.A370T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.A370T|PCDHA6_uc011dab.1_Missense_Mutation_p.A370T	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	370	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTGTCATCGCCCTAATTAG	0.483													A	140208784	G	A	140208784	3	1	80	1	0	0	0	0	1	0	0	0	11528	1087	38	1	1110	1	PCDHA6	5	140208784	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	26134	140208784	40706476	326	54268											
PCDHA7	56141	broad.mit.edu	37	chr5	140215475	140215475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcgggtgggcgagcgcGcgctgtcgagctacgtgtca	18	11	1	0	rs147416989	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140215475G>A	uc003lhq.2	+	1	1507	c.1507G>A	c.(1507-1509)GCG>ACG	p.A503T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A503T	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	503	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGAGCGCGCGCTGTCGAG	0.677													A	140215475	G	A	140215475	3	1	80	1	0	0	0	0	1	0	0	0	11529	1087	38	1	1509	1	PCDHA7	5	140215475	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	6691	140215475	40699785	327	54269											
PCDHA12	56137	broad.mit.edu	37	chr5	140256960	140256960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcgagatcagcacgacaCgcatcctggatgaggcggac	14	12	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140256960C>T	uc003lic.2	+	1	2030	c.1903C>T	c.(1903-1905)CGC>TGC	p.R635C	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.R635C	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	635	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCACGACACGCATCCTGGA	0.677													T	140256960	C	T	140256960	3	4	80	1	0	0	0	0	1	0	0	0	11522	536	19	1	1905	1	PCDHA12	5	140256960	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	41485	140256960	40658300	328	54270											
PCDHB2	56133	broad.mit.edu	37	chr5	140476279	140476279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggctgctgagggagcgCgacgctgccaagcagaggct	17	12	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140476279C>T	uc003lil.2	+	1	2043	c.1905C>T	c.(1903-1905)CGC>CGT	p.R635R	PCDHB2_uc003lim.1_Silent_p.R296R	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	635	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGGGAGCGCGACGCTGCCA	0.697													T	140476279	C	T	140476279	2	4	80	1	0	0	0	0	0	0	0	1	11542	755	27	1		1	PCDHB2	5	140476279	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	219319	140476279	40438981	329	54271											
PCDHB7	56129	broad.mit.edu	37	chr5	140553151	140553151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctgattttgtgcggtcGctctacaaggtgcaggtgcc	13	12	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140553151G>A	uc003lit.2	+	1	909	c.735G>A	c.(733-735)TCG>TCA	p.S245S		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	245	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGTGCGGTCGCTCTACAAGG	0.542													A	140553151	G	A	140553151	2	1	80	1	0	0	0	0	0	0	0	1	11547	1074	38	1		1	PCDHB7	5	140553151	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	76872	140553151	40362109	330	54272											
PCDHB16	57717	broad.mit.edu	37	chr5	140562820	140562820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctggaactgctcaggtccGtattgaagtggtggacatca	12	8	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140562820G>A	uc003liv.2	+	1	1841	c.686G>A	c.(685-687)CGT>CAT	p.R229H	PCDHB16_uc010jfw.1_Intron	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	229	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCAGGTCCGTATTGAAGTG	0.527													A	140562820	G	A	140562820	3	1	80	1	0	0	0	0	1	0	0	0	11541	1145	40	1	688	1	PCDHB16	5	140562820	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	9669	140562820	40352440	331	54273											
PCDHB16	57717	broad.mit.edu	37	chr5	140564112	140564112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccaccgccacgctgcacGtgctcctggtggacggcttc	13	17	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140564112G>A	uc003liv.2	+	1	3133	c.1978G>A	c.(1978-1980)GTG>ATG	p.V660M	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	660	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACGCTGCACGTGCTCCTGGT	0.706													A	140564112	G	A	140564112	3	1	80	1	0	0	0	0	1	0	0	0	11541	1145	40	1	1980	1	PCDHB16	5	140564112	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1292	140564112	40351148	332	54274											
PCDHB13	56123	broad.mit.edu	37	chr5	140595831	140595831	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgttcgtggcggtgcgGctgtgtaggaggagcagggc	19	9	0	0	rs145378952		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140595831G>A	uc003lja.1	+	1	2323	c.2136G>A	c.(2134-2136)CGG>CGA	p.R712R		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	712	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGGTGCGGCTGTGTAGGA	0.662													A	140595831	G	A	140595831	2	1	80	1	0	0	0	0	0	0	0	1	11538	1190	42	2		2	PCDHB13	5	140595831	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	31719	140595831	40319429	333	54275											
PCDHB15	56121	broad.mit.edu	37	chr5	140627138	140627138	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaagtgctcctggtggaCggcttctctcagccctacct	10	15	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140627138C>T	uc003lje.2	+	1	1992	c.1992C>T	c.(1990-1992)GAC>GAT	p.D664D		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	664	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGGTGGACGGCTTCTCTC	0.687													T	140627138	C	T	140627138	2	4	80	1	0	0	0	0	0	0	0	1	11540	535	19	1		1	PCDHB15	5	140627138	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	31307	140627138	40288122	334	54276											
PCDHGB1	56104	broad.mit.edu	37	chr5	140730146	140730146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactagaattcgaaacggtcGctgaaaacccaatgaatgtt	8	9	0	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140730146G>A	uc003ljo.1	+	1	319	c.319G>A	c.(319-321)GCT>ACT	p.A107T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.A107T	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	107	Cadherin 1.|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)			CGAAACGGTCGCTGAAAACCC	0.418													A	140730146	G	A	140730146	3	1	80	1	0	0	0	0	1	0	0	0	11562	1087	38	1	321	1	PCDHGB1	5	140730146	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	103008	140730146	40185114	335	54277			1	22		8	8	25215	N	G_C_A	7.762502e-05
PCDHGA4	56111	broad.mit.edu	37	chr5	140735645	140735645	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaatatcacagctatttcAgttgaattctctgagtgggg	9	7	3	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140735645A>C	uc003ljq.1	+	1	878	c.878A>C	c.(877-879)CAG>CCG	p.Q293P	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.Q293P	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	293	Cadherin 3.|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)			CAGCTATTTCAGTTGAATTCT	0.443													C	140735645	A	C	140735645	3	2	80	1	0	0	0	0	1	0	0	0	11556	188	7	5	880	5	PCDHGA4	5	140735645	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	5499	140735645	40179615	336	54278			1	22		8	8	25215	N	G_C_A	7.762502e-05
PCDHGA4	56111	broad.mit.edu	37	chr5	140736919	140736919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctagcactcaagctgagaCgctggcacaagtcacgcctg	11	13	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140736919C>T	uc003ljq.1	+	1	2152	c.2152C>T	c.(2152-2154)CGC>TGC	p.R718C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGB2_uc003ljs.1_5'Flank|PCDHGA4_uc003ljp.1_Missense_Mutation_p.R718C|PCDHGB2_uc011dar.1_5'Flank	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	718	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGCTGAGACGCTGGCACAA	0.617													T	140736919	C	T	140736919	3	4	80	1	0	0	0	0	1	0	0	0	11556	536	19	1	2154	1	PCDHGA4	5	140736919	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1274	140736919	40178341	337	54279			1	22		8	8	25215	N	G_C_A	7.762502e-05
PCDHGB2	56103	broad.mit.edu	37	chr5	140739977	140739977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgagtgacagaatagaccGagaacagatatgcgggaagc	14	6	0	6			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140739977G>A	uc003ljs.1	+	1	275	c.275G>A	c.(274-276)CGA>CAA	p.R92Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Missense_Mutation_p.R92Q	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	92	Extracellular (Potential).|Cadherin 1.				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)			AGAATAGACCGAGAACAGATA	0.473													A	140739977	G	A	140739977	3	1	80	1	0	0	0	0	1	0	0	0	11563	1058	37	1	277	1	PCDHGB2	5	140739977	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	3058	140739977	40175283	338	54280			1	22		8	8	25215	N	G_C_A	7.762502e-05
PCDHGA5	56110	broad.mit.edu	37	chr5	140745880	140745880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagccaccttcacggtcacCgttgccgtggccgacaggat	11	15	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140745880C>T	uc003lju.1	+	1	1983	c.1983C>T	c.(1981-1983)ACC>ACT	p.T661T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Silent_p.T661T	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	661	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACGGTCACCGTTGCCGTGG	0.622													T	140745880	C	T	140745880	2	4	80	1	0	0	0	0	0	0	0	1	11557	639	23	1		1	PCDHGA5	5	140745880	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	5903	140745880	40169380	339	54281			1	22		8	8	25215	N	G_C_A	7.762502e-05
PCDHGA5	56110	broad.mit.edu	37	chr5	140746290	140746290	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgatgtctgataaggtagAtgcaaacaaagaagaacggc	11	6	2	5			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140746290A>C	uc003lju.1	+	1	2393	c.2393A>C	c.(2392-2394)GAT>GCT	p.D798A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.D798A	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	798	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAAGGTAGATGCAAACAAA	0.428													C	140746290	A	C	140746290	3	2	80	1	0	0	0	0	1	0	0	0	11557	333	12	5	2395	5	PCDHGA5	5	140746290	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	410	140746290	40168970	340	54282			1	22		8	8	25215	N	G_C_A	7.762502e-05
PCDHGA6	56109	broad.mit.edu	37	chr5	140754085	140754085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtgaaaattctcgaaaaCgcagctccatcctctcgttt	7	11	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140754085C>T	uc003ljy.1	+	1	435	c.435C>T	c.(433-435)AAC>AAT	p.N145N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.N145N	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	145	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTCGAAAACGCAGCTCCAT	0.413													T	140754085	C	T	140754085	2	4	80	1	0	0	0	0	0	0	0	1	11558	535	19	1		1	PCDHGA6	5	140754085	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	7795	140754085	40161175	341	54283			1	22		8	8	25215	N	G_C_A	7.762502e-05
PCDHGA6	56109	broad.mit.edu	37	chr5	140755360	140755360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccccgccctccccacagaCggttccactggcgtggagct	10	18	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140755360C>T	uc003ljy.1	+	1	1710	c.1710C>T	c.(1708-1710)GAC>GAT	p.D570D	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.D570D	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	570	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCACAGACGGTTCCACTG	0.667													T	140755360	C	T	140755360	2	4	80	1	0	0	0	0	0	0	0	1	11558	535	19	1		1	PCDHGA6	5	140755360	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1275	140755360	40159900	342	54284			1	22		8	8	25215	N	G_C_A	7.762502e-05
PCDHGB5	56101	broad.mit.edu	37	chr5	140778577	140778577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagtctgaattcaaagagcGgagaaattaccactcaaaag	8	7	3	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140778577G>A	uc003lkf.1	+	1	883	c.883G>A	c.(883-885)GGA>AGA	p.G295R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.G295R	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	295	Extracellular (Potential).|Cadherin 3.				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)			TTCAAAGAGCGGAGAAATTAC	0.433													A	140778577	G	A	140778577	3	1	80	1	0	0	0	0	1	0	0	0	11566	1117	39	1	885	1	PCDHGB5	5	140778577	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	23217	140778577	40136683	343	54285											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811976	140811976	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcaacgtgtcgttgagcctGttcgtgctggaccagaacga	13	10	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140811976G>C	uc003lkt.1	+	1	1819	c.1650G>C	c.(1648-1650)CTG>CTC	p.L550L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.L550L	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	550	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTGAGCCTGTTCGTGCTGG	0.642													C	140811976	G	C	140811976	2	2	80	1	0	0	0	0	0	0	0	1	11553	1364	48	5		5	PCDHGA12	5	140811976	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	33399	140811976	40103284	344	54286											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812146	140812146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgcctggctgtcctaccGtctgctcaaggccagcgagc	12	15	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140812146G>A	uc003lkt.1	+	1	1989	c.1820G>A	c.(1819-1821)CGT>CAT	p.R607H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.R607H	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	607	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCCTACCGTCTGCTCAAG	0.697													A	140812146	G	A	140812146	3	1	80	1	0	0	0	0	1	0	0	0	11553	1145	40	1	1822	1	PCDHGA12	5	140812146	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	170	140812146	40103114	345	54287											
PCDHGC3	5098	broad.mit.edu	37	chr5	140856225	140856225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccgaaatgaatactttgCgcttcgcgtgcagacgcggg	14	10	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140856225C>T	uc003lkv.1	+	1	657	c.542C>T	c.(541-543)GCG>GTG	p.A181V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.A181V|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	181	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATACTTTGCGCTTCGCGTG	0.607													T	140856225	C	T	140856225	3	4	80	1	0	0	0	0	1	0	0	0	11569	768	27	1	544	1	PCDHGC3	5	140856225	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	44079	140856225	40059035	346	54288											
ABLIM3	22885	broad.mit.edu	37	chr5	148619396	148619396	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagactcccccacctacagCcggcagggcatgtcccccac	8	19	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:148619396C>T	uc003lpy.2	+	13	1400	c.1149C>T	c.(1147-1149)AGC>AGT	p.S383S	ABLIM3_uc003lpz.1_Silent_p.S383S|ABLIM3_uc003lqa.1_Silent_p.S329S|ABLIM3_uc003lqb.2_Silent_p.S321S|ABLIM3_uc003lqc.1_Silent_p.S383S|ABLIM3_uc003lqd.1_Silent_p.S321S|ABLIM3_uc003lqf.2_Silent_p.S321S|ABLIM3_uc003lqe.1_Silent_p.S321S	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	383					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTACAGCCGGCAGGGCA	0.632													T	148619396	C	T	148619396	2	4	80	1	0	0	0	0	0	0	0	1	96	738	26	2		2	ABLIM3	5	148619396	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	7763171	148619396	32295864	347	54289											
GPX3	2878	broad.mit.edu	37	chr5	150400298	150400298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagccggggacaagagaagtCgaaggtgagtgagcctccgg	18	8	0	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:150400298C>T	uc011dcm.1	+	1	300	c.83C>T	c.(82-84)TCG>TTG	p.S28L	GPX3_uc003ltc.2_RNA|GPX3_uc003ltd.2_RNA	NM_002084	NP_002075	P22352	GPX3_HUMAN	glutathione peroxidase 3 precursor	28					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding				0		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	CAAGAGAAGTCGAAGGTGAGT	0.687													T	150400298	C	T	150400298	3	4	80	1	0	0	0	0	1	0	0	0	6741	893	31	1	85	1	GPX3	5	150400298	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1780902	150400298	30514962	348	54290											
G3BP1	10146	broad.mit.edu	37	chr5	151183470	151183470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgttcagaggtgaggtcCgtctgaatgtcgaagagaag	14	6	3	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:151183470C>T	uc003lun.2	+	12	1390	c.1219C>T	c.(1219-1221)CGT>TGT	p.R407C	G3BP1_uc003lum.2_Missense_Mutation_p.R407C|G3BP1_uc011dcu.1_Missense_Mutation_p.R225C|G3BP1_uc010jhz.2_Missense_Mutation_p.R225C|G3BP1_uc003luq.2_Missense_Mutation_p.R75C	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	407	RRM.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AGGTGAGGTCCGTCTGAATGT	0.522													T	151183470	C	T	151183470	3	4	80	1	0	0	0	0	1	0	0	0	6141	652	23	1	1261	1	G3BP1	5	151183470	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	783172	151183470	29731790	349	54291											
GALNT10	55568	broad.mit.edu	37	chr5	153789315	153789315	+	Frame_Shift_Del	DEL	G	G	-													ggagcccccggctgcagcttGgggggaggtgagtctggagg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:153789314_153789314TG>T	uc003lvh.3	+	8	1510	c.1378_1378TG>T	c.(1378-1380)tggfs	p.W460fs	GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Frame_Shift_Del_p.W301fs|FLJ38109_uc003lvi.3_Intron	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	460	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGCTGCAGCTTGGGGGGAGGT	0.532													-	153789315	G	-	153789315	7	5	80	1	0	1	0	1	0	0	0	0	6208	1357	47	0	1413	0	GALNT10	5	153789315	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	2605845	153789315	27125945	350	54292											
MRPL22	29093	broad.mit.edu	37	chr5	154346305	154346305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccgctaccatggcagaggtCgctttgggatcatggagaag	14	9	1	2	rs113240119	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:154346305C>T	uc003lvy.3	+	7	507	c.469C>T	c.(469-471)CGC>TGC	p.R157C	MRPL22_uc003lvz.3_Missense_Mutation_p.R77C	NM_014180	NP_054899	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22 isoform a	157					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome				0	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGCAGAGGTCGCTTTGGGAT	0.512													T	154346305	C	T	154346305	3	4	80	1	0	0	0	0	1	0	0	0	9788	884	31	1	495	1	MRPL22	5	154346305	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	556990	154346305	26568955	351	54293											
ODZ2	57451	broad.mit.edu	37	chr5	167379678	167379678	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcccatcaccactcgtcCgccaactccctcaacaggaa	5	19	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:167379678C>T	uc010jjd.2	+	4	798	c.798C>T	c.(796-798)TCC>TCT	p.S266S	ODZ2_uc003lzq.2_Silent_p.S145S|ODZ2_uc003lzr.3_Silent_p.S75S	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		ACCACTCGTCCGCCAACTCCC	0.622													T	167379678	C	T	167379678	2	4	80	1	0	0	0	0	0	0	0	1	10835	639	23	1		1	ODZ2	5	167379678	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	13033373	167379678	13535582	352	54294											
SLIT3	6586	broad.mit.edu	37	chr5	168096798	168096798	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtagacccaccttgttggcaGtgctcgccgctaaagccggg	13	13	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:168096798G>C	uc003mab.2	-	35	4746	c.4326C>G	c.(4324-4326)CAC>CAG	p.H1442Q	SLIT3_uc010jjg.2_Missense_Mutation_p.H1449Q	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	1442	EGF-like 9.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTGTTGGCAGTGCTCGCCGC	0.468													C	168096798	G	C	168096798	3	2	80	1	0	0	0	0	1	0	0	0	14741	1020	36	5	253	5	SLIT3	5	168096798	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	717120	168096798	12818462	353	54295											
COL23A1	91522	broad.mit.edu	37	chr5	177683356	177683356	+	Frame_Shift_Del	DEL	G	G	-													tgaggggcggcagcttacccGgggccctgcagctccatccg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:177683356delG	uc003mje.2	-	15	1238	c.880delC	c.(880-882)CGGfs	p.R294fs	COL23A1_uc010jkt.2_Frame_Shift_Del_p.P141fs	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	294	Extracellular (Potential).|Collagen-like 2.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CAGCTTACCCGGGGCCCTGCA	0.647													-	177683356	G	-	177683356	7	5	80	1	0	1	0	1	0	0	0	0	3682	1115	39	0	802	0	COL23A1	5	177683356	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	9586558	177683356	3231904	354	54296											
ZNF354B	117608	broad.mit.edu	37	chr5	178310319	178310319	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatccctttgtaagcattTaaggacccatactgtggaga	9	9	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:178310319T>C	uc003mjl.2	+	5	1092	c.866T>C	c.(865-867)TTA>TCA	p.L289S	ZNF354B_uc003mjm.2_Missense_Mutation_p.L289S	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	289	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTAAGCATTTAAGGACCCAT	0.383													C	178310319	T	C	178310319	3	2	80	1	0	0	0	0	1	0	0	0	17862	1764	61	3	880	3	ZNF354B	5	178310319	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	626963	178310319	2604941	355	54297											
GRM6	2916	broad.mit.edu	37	chr5	178410024	178410024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgttgaaggtctcgggcaCgccacgggccttgatggcgt	15	12	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:178410024C>T	uc003mjr.2	-	9	2502	c.2323G>A	c.(2323-2325)GTG>ATG	p.V775M	GRM6_uc003mjq.2_Missense_Mutation_p.V178M	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	775	Cytoplasmic (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GTCTCGGGCACGCCACGGGCC	0.597													T	178410024	C	T	178410024	3	4	80	1	0	0	0	0	1	0	0	0	6801	536	19	1	318	1	GRM6	5	178410024	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	99705	178410024	2505236	356	54298											
TBC1D9B	23061	broad.mit.edu	37	chr5	179302056	179302056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctctcgaagggcatgaCgctgaggaagagggtcagga	18	8	2	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:179302056C>T	uc003mlh.2	-	12	2069	c.2032G>A	c.(2032-2034)GTC>ATC	p.V678I	TBC1D9B_uc003mli.2_Missense_Mutation_p.V678I|TBC1D9B_uc003mlj.2_Missense_Mutation_p.V678I|TBC1D9B_uc011dgv.1_5'Flank	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	678	Helical; (Potential).|Rab-GAP TBC.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGGGCATGACGCTGAGGAAG	0.602													T	179302056	C	T	179302056	3	4	80	1	0	0	0	0	1	0	0	0	15625	536	19	1	1764	1	TBC1D9B	5	179302056	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	892032	179302056	1613204	357	54299											
SLC22A23	63027	broad.mit.edu	37	chr6	3324124	3324124	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagggcctgcagcacctgCcaatcccggcacagggcggc	14	15	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:3324124C>T	uc003mvm.3	-	4	1026	c.1026G>A	c.(1024-1026)TGG>TGA	p.W342*	SLC22A23_uc003mvn.3_Nonsense_Mutation_p.W61*|SLC22A23_uc003mvo.3_Nonsense_Mutation_p.W61*|SLC22A23_uc003mvp.1_RNA|SLC22A23_uc010jnn.2_Nonsense_Mutation_p.W342*|SLC22A23_uc010jno.2_Nonsense_Mutation_p.W342*	NM_015482	NP_056297	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23 isoform a	342					ion transport	integral to membrane	transmembrane transporter activity			ovary(1)	1	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				GCAGCACCTGCCAATCCCGGC	0.632													T	3324124	C	T	3324124	4	4	80	1	0	0	0	0	0	1	0	0	14452	740	26	2	1062	2	SLC22A23	6	3324124	Nonsense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08		3324124	167790943	358	54300											
PRPF4B	8899	broad.mit.edu	37	chr6	4032412	4032412	+	Frame_Shift_Del	DEL	A	A	-													ggagcaagtcaaaggagaggAaaaaatctaaaagcccatcc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:4032411_4032411GA>G	uc003mvv.3	+	1	751	c.660_660GA>G	c.(658-660)aggfs	p.R220fs	PRPF4B_uc011dhv.1_Non-coding_Transcript	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA.	220	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CAAAGGAGAGGAAAAAATCTA	0.383													-	4032412	A	-	4032412	7	5	80	1	0	1	0	1	0	0	0	0	12573	247	9	0	667	0	PRPF4B	6	4032412	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	708288	4032412	167082655	359	54301											
JARID2	3720	broad.mit.edu	37	chr6	15496722	15496722	+	Frame_Shift_Del	DEL	G	G	-													aagtcatgcactaaggaggtGggggggcggcagctgcggga							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:15496721_15496721TG>T	uc003nbj.3	+	6	1509	c.1265_1265TG>T	c.(1264-1266)gtgfs	p.V422fs	JARID2_uc011diu.1_Frame_Shift_Del_p.V286fs|JARID2_uc011div.2_Frame_Shift_Del_p.V250fs|JARID2_uc011diw.1_Frame_Shift_Del_p.V384fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	422					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ACTAAGGAGGTGGGGGGGCGG	0.667													-	15496722	G	-	15496722	7	5	80	1	0	1	0	1	0	0	0	0	7945	1335	47	0	1292	0	JARID2	6	15496722	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	11464310	15496722	155618345	360	54302											
KDM1B	221656	broad.mit.edu	37	chr6	18208403	18208403	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggagatgaagtgcaggttaCcactacagatggcacagggt	14	7	0	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:18208403C>A	uc003nco.1	+	10	1298	c.1223C>A	c.(1222-1224)ACC>AAC	p.T408N	KDM1B_uc003ncn.1_Missense_Mutation_p.T379N	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	amine oxidase (flavin containing) domain 1	611					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			skin(1)	1						GTGCAGGTTACCACTACAGAT	0.473													A	18208403	C	A	18208403	3	1	80	1	0	0	0	0	1	0	0	0	8123	507	18	5	1178	5	KDM1B	6	18208403	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2711681	18208403	152906664	361	54303											
ZNF184	7738	broad.mit.edu	37	chr6	27420689	27420689	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttacaagatttctctttttTaactgggtttgaattctgtt	6	6	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:27420689T>A	uc003njj.2	-	5	1460	c.649A>T	c.(649-651)AAA>TAA	p.K217*	ZNF184_uc010jqv.2_Nonsense_Mutation_p.K217*|ZNF184_uc003nji.2_Nonsense_Mutation_p.K217*	NM_007149	NP_009080	Q99676	ZN184_HUMAN	zinc finger protein 184	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTCTCTTTTTTAACTGGGTTT	0.378													A	27420689	T	A	27420689	4	1	80	1	0	0	0	0	0	1	0	0	17748	1763	61	5	1610	5	ZNF184	6	27420689	Nonsense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	9212286	27420689	143694378	362	54304											
OR12D2	26529	broad.mit.edu	37	chr6	29364789	29364789	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttcatttcttccactccCtgggcagcacggagtccatg	9	14	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:29364789C>T	uc003nmf.3	+	1	374	c.313C>T	c.(313-315)CTG>TTG	p.L105L		NM_013936	NP_039224	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D,	105	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CTTCCACTCCCTGGGCAGCAC	0.493													T	29364789	C	T	29364789	2	4	80	1	0	0	0	0	0	0	0	1	10931	680	24	4		4	OR12D2	6	29364789	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1944100	29364789	141750278	363	54305											
VARS	7407	broad.mit.edu	37	chr6	31746992	31746992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaacagccaccacacctgCgctggccagggcctgcacgt	11	17	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:31746992C>T	uc003nxe.2	-	29	3901	c.3478G>A	c.(3478-3480)GCA>ACA	p.A1160T	C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank|VARS_uc003nxf.1_Missense_Mutation_p.A97T	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1160					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	ACCACACCTGCGCTGGCCAGG	0.687													T	31746992	C	T	31746992	3	4	80	1	0	0	0	0	1	0	0	0	17120	768	27	1	324	1	VARS	6	31746992	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2382203	31746992	139368075	364	54306											
COL11A2	1302	broad.mit.edu	37	chr6	33133371	33133371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcaggtcctggcaggtgcGagcagggctgtcctgggtcc	16	12	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:33133371G>A	uc003ocx.1	-	63	4933	c.4705C>T	c.(4705-4707)CGC>TGC	p.R1569C	COL11A2_uc010jul.1_Missense_Mutation_p.R139C|COL11A2_uc003ocy.1_Missense_Mutation_p.R1483C|COL11A2_uc003ocz.1_Missense_Mutation_p.R1462C	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1569	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						TGGCAGGTGCGAGCAGGGCTG	0.622													A	33133371	G	A	33133371	3	1	80	1	0	0	0	0	1	0	0	0	3668	1058	37	1	521	1	COL11A2	6	33133371	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1386379	33133371	137981696	365	54307											
DAXX	1616	broad.mit.edu	37	chr6	33289268	33289268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccaaaaacagagagtggGcacgttgctgccggttatag	14	8	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:33289268G>A	uc003oec.2	-	3	488	c.284C>T	c.(283-285)GCC>GTC	p.A95V	DAXX_uc011drd.1_Missense_Mutation_p.A20V|DAXX_uc011dre.1_Missense_Mutation_p.A107V|DAXX_uc003oed.2_Missense_Mutation_p.A95V|DAXX_uc010juw.2_Missense_Mutation_p.A20V	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	95	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						CAGAGAGTGGGCACGTTGCTG	0.517			Mis|F|N		Pancreatic neuroendocrine tumors								A	33289268	G	A	33289268	3	1	80	1	0	0	0	0	1	0	0	0	4243	1203	42	2	1962	2	DAXX	6	33289268	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	155897	33289268	137825799	366	54308											
ITPR3	3710	broad.mit.edu	37	chr6	33662760	33662760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccttgtcagcaatgagggCgagggggagcagaatgagat	16	7	1	3	rs141751520	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:33662760C>T	uc011drk.1	+	57	8064	c.7845C>T	c.(7843-7845)GGC>GGT	p.G2615G	C6orf125_uc003oez.1_RNA	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2615	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						GCAATGAGGGCGAGGGGGAGC	0.582													T	33662760	C	T	33662760	2	4	80	1	0	0	0	0	0	0	0	1	7922	755	27	1		1	ITPR3	6	33662760	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	373492	33662760	137452307	367	54309											
LRFN2	57497	broad.mit.edu	37	chr6	40399690	40399690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacttggggggtgcagtgCggctggtgctgttgctgagg	22	6	0	1	rs148386118		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:40399690C>T	uc003oph.1	-	2	1628	c.1163G>A	c.(1162-1164)CGC>CAC	p.R388H		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	388	Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGGTGCAGTGCGGCTGGTGCT	0.662													T	40399690	C	T	40399690	3	4	80	1	0	0	0	0	1	0	0	0	8938	768	27	1	1214	1	LRFN2	6	40399690	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	6736930	40399690	130715377	368	54310											
FOXP4	116113	broad.mit.edu	37	chr6	41533594	41533594	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagccgatggcagcagcggCggggccacagggacaactgc	16	13	0	0	rs149894394		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:41533594C>T	uc003oql.2	+	2	554	c.96C>T	c.(94-96)GGC>GGT	p.G32G	FOXP4_uc003oqm.2_Silent_p.G32G|FOXP4_uc003oqn.2_Silent_p.G32G	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	forkhead box P4 isoform 1	32					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					GCAGCAGCGGCGGGGCCACAG	0.627													T	41533594	C	T	41533594	2	4	80	1	0	0	0	0	0	0	0	1	6029	755	27	1		1	FOXP4	6	41533594	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1133904	41533594	129581473	369	54311											
KLHDC3	116138	broad.mit.edu	37	chr6	42986249	42986249	+	Frame_Shift_Del	DEL	C	C	-													ctgaggcttggctggactgtCccccgactccagtgctgcct							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:42986248_42986248TC>T	uc003otl.3	+	5	992	c.687_687TC>T	c.(685-687)tgtfs	p.C229fs	KLHDC3_uc003otn.3_Frame_Shift_Del_p.C113fs|KLHDC3_uc003otm.3_Non-coding_Transcript|KLHDC3_uc021yzr.1_Frame_Shift_Del_p.C214fs|KLHDC3_uc003oto.3_Frame_Shift_Del_p.C170fs	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	Homo sapiens kelch domain containing 3 (KLHDC3), transcript variant 1, mRNA.	229					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGCTGGACTGTCCCCCGACTC	0.587													-	42986249	C	-	42986249	7	5	80	1	0	1	0	1	0	0	0	0	8357	855	30	0	706	0	KLHDC3	6	42986249	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	1452655	42986249	128128818	370	54312											
CUL9	23113	broad.mit.edu	37	chr6	43190359	43190359	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaatgatgcctgccagGgactggagcaggctcggaag	14	11	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:43190359G>T	uc003ouk.2	+	37	7087	c.7012G>T	c.(7012-7014)GGA>TGA	p.G2338*	CUL9_uc003oul.2_Nonsense_Mutation_p.G2310*|CUL9_uc010jyk.2_Nonsense_Mutation_p.G1490*|CUL9_uc003oun.2_Nonsense_Mutation_p.G133*	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	2338					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						TGCCTGCCAGGGACTGGAGCA	0.612													T	43190359	G	T	43190359	4	4	80	1	0	0	0	0	0	1	0	0	4061	1233	43	5	7154	5	CUL9	6	43190359	Nonsense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	204110	43190359	127924708	371	54313											
KLHL31	401265	broad.mit.edu	37	chr6	53519759	53519760	+	Frame_Shift_Ins	INS	-	-	T													ccctctgaattgacgggtctINSttttttaggatgttgtaaaa					rs72352601		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:53519758_53519759C>CT	uc003pcb.4	-	1	453_454	c.312_313G>AG	c.(310-315)aaagacfs	p.K104fs		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	104	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					ATTGACGGGTCTTTTTTTAGGA	0.421													T	53519760	-	T	53519759	7	5	80	1	0	1	1	0	0	0	0	0	8385	1606	56	0	1600	0	KLHL31	6	53519759	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	10329400	53519759	117595308	372	54314											
BAI3	577	broad.mit.edu	37	chr6	69759195	69759195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctgtatttgttcttggcGcagtcctatacaaaaactta	6	9	2	0	rs112866971		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:69759195G>A	uc003pev.3	+	15	2738	c.2290G>A	c.(2290-2292)GCA>ACA	p.A764T	BAI3_uc010kak.2_Missense_Mutation_p.A764T	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	764	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TGTTCTTGGCGCAGTCCTATA	0.274													A	69759195	G	A	69759195	3	1	80	1	0	0	0	0	1	0	0	0	1300	1087	38	1	2340	1	BAI3	6	69759195	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	16239436	69759195	101355872	373	54315											
B3GAT2	135152	broad.mit.edu	37	chr6	71571627	71571627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctggctgggatccacgaCgcttaaatacagcttttgga	10	11	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:71571627C>T	uc003pfv.2	-	3	1447	c.791G>A	c.(790-792)CGT>CAT	p.R264H	SMAP1_uc003pfr.2_3'UTR|SMAP1_uc003pfs.2_3'UTR|SMAP1_uc010kao.2_3'UTR|SMAP1_uc010kap.2_3'UTR|B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.R264H	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	264	Lumenal (Potential).				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GGATCCACGACGCTTAAATAC	0.373													T	71571627	C	T	71571627	3	4	80	1	0	0	0	0	1	0	0	0	1254	536	19	1	188	1	B3GAT2	6	71571627	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1812432	71571627	99543440	374	54316											
RIMS1	22999	broad.mit.edu	37	chr6	72892034	72892034	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatggcaaaggagccctgaAgagcgagcggaaacgcgtgc	16	9	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:72892034A>G	uc003pga.2	+	6	937	c.860A>G	c.(859-861)AAG>AGG	p.K287R	RIMS1_uc011dyb.1_5'UTR|RIMS1_uc003pgc.2_5'UTR|RIMS1_uc003pgb.3_5'UTR	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	287					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGAGCCCTGAAGAGCGAGCGG	0.537													G	72892034	A	G	72892034	3	3	80	1	0	0	0	0	1	0	0	0	13367	72	3	3	882	3	RIMS1	6	72892034	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	1320407	72892034	98223033	375	54317											
RIMS1	22999	broad.mit.edu	37	chr6	72892074	72892074	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaagacctcagcgcagccCgtggagggggccgtcgaaga	15	13	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:72892074C>T	uc003pga.2	+	6	977	c.900C>T	c.(898-900)CCC>CCT	p.P300P	RIMS1_uc011dyb.1_5'UTR|RIMS1_uc003pgc.2_5'UTR|RIMS1_uc003pgb.3_5'UTR	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	300					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAGCGCAGCCCGTGGAGGGGG	0.572													T	72892074	C	T	72892074	2	4	80	1	0	0	0	0	0	0	0	1	13367	639	23	1		1	RIMS1	6	72892074	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	40	72892074	98222993	376	54318											
CD109	135228	broad.mit.edu	37	chr6	74492481	74492481	+	Splice_Site	DEL	A	A	-													gctagacaccaacatggggtAaaaatttataaagttctttg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:74492480_74492480TA>T	uc003php.3	+	18	2536	c.2105_splice	c.e18+2	p.G702_splice	CD109_uc003phq.3_Splice_Site_p.G702_splice|CD109_uc010kba.3_Splice_Site_p.G625_splice	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	702	Bait region (approximate) (By similarity).					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAACATGGGGTAAAAATTTAT	0.348													-	74492481	A	-	74492481	8	5	80	1	0	1	0	1	0	0	1	0	2963	377	13	0		0	CD109	6	74492481	Splice_Site	DEL	A	TCGA-BR-8368-01A-11D-2340-08	1600407	74492481	96622586	377	54319											
TPBG	7162	broad.mit.edu	37	chr6	83075087	83075087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacgaggtgcgcgcgggcGccttcgagcatctgcccagc	16	14	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:83075087G>A	uc003pjn.3	+	3	1345	c.409G>A	c.(409-411)GCC>ACC	p.A137T	TPBG_uc010kbj.2_Missense_Mutation_p.A137T|TPBG_uc003pjo.2_Missense_Mutation_p.A137T	NM_006670	NP_006661	Q13641	TPBG_HUMAN	trophoblast glycoprotein precursor	137	Extracellular (Potential).|LRR 2.				cell adhesion	integral to plasma membrane				central_nervous_system(1)	1		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GCGCGCGGGCGCCTTCGAGCA	0.736													A	83075087	G	A	83075087	3	1	80	1	0	0	0	0	1	0	0	0	16391	1087	38	1	411	1	TPBG	6	83075087	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	8582606	83075087	88039980	378	54320											
TBX18	9096	broad.mit.edu	37	chr6	85446535	85446535	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggcaacatctgccgatcCgtcatggtcccactcggtga	13	13	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:85446535C>T	uc003pkl.1	-	8	1692	c.1692G>A	c.(1690-1692)ACG>ACA	p.T564T	TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	564					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TCTGCCGATCCGTCATGGTCC	0.522													T	85446535	C	T	85446535	2	4	80	1	0	0	0	0	0	0	0	1	15650	639	23	1		1	TBX18	6	85446535	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2371448	85446535	85668532	379	54321											
TBX18	9096	broad.mit.edu	37	chr6	85473619	85473619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccactcacccgcggctccgCgctccaggtctgcgccactc	9	22	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:85473619C>T	uc003pkl.1	-	1	281	c.281G>A	c.(280-282)CGC>CAC	p.R94H	TBX18_uc010kbq.1_5'Flank	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	94					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CGCGGCTCCGCGCTCCAGGTC	0.667													T	85473619	C	T	85473619	3	4	80	1	0	0	0	0	1	0	0	0	15650	768	27	1	1574	1	TBX18	6	85473619	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	27084	85473619	85641448	380	54322											
GABRR1	2569	broad.mit.edu	37	chr6	89895130	89895130	+	Frame_Shift_Del	DEL	T	T	-													tctttaaggagtcattgcccTttttccagtacagcatgagg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:89895130delT	uc003pna.2	-	7	1150	c.695delA	c.(694-696)AAGfs	p.K232fs	GABRR1_uc011dzv.1_Frame_Shift_Del_p.K209fs	NM_002042	NP_002033	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 1	232	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GTCATTGCCCTTTTTCCAGTA	0.498													-	89895130	T	-	89895130	7	5	80	1	0	1	0	1	0	0	0	0	6176	1609	56	0	760	0	GABRR1	6	89895130	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	4421511	89895130	81219937	381	54323											
RRAGD	58528	broad.mit.edu	37	chr6	90097168	90097168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcccggcatatcttattaGtgctctccaagaacagagtt	7	11	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:90097168G>A	uc003pnd.3	-	2	573	c.290C>T	c.(289-291)ACT>ATT	p.T97I	RRAGD_uc010kcc.2_Intron	NM_021244	NP_067067	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	97					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			ovary(2)|central_nervous_system(1)	3		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		TATCTTATTAGTGCTCTCCAA	0.438													A	90097168	G	A	90097168	3	1	80	1	0	0	0	0	1	0	0	0	13675	1029	36	4	936	4	RRAGD	6	90097168	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	202038	90097168	81017899	382	54324											
SFRS18	25957	broad.mit.edu	37	chr6	99848984	99848984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagcgacttctacttctaCgtctctctcgggaaggactc	9	12	4	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:99848984C>T	uc003ppo.3	-	12	2078	c.1850G>A	c.(1849-1851)CGT>CAT	p.R617H	SFRS18_uc003ppl.2_Missense_Mutation_p.R163H|SFRS18_uc003ppp.3_Missense_Mutation_p.R617H|SFRS18_uc011eag.1_Missense_Mutation_p.R617H	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	617						nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		TCTACTTCTACGTCTCTCTCG	0.438													T	99848984	C	T	99848984	3	4	80	1	0	0	0	0	1	0	0	0	14174	536	19	1	571	1	SFRS18	6	99848984	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	9751816	99848984	71266083	383	54325											
BEND3	57673	broad.mit.edu	37	chr6	107389968	107389968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttcctgttggggcggcgGcacctctcatcgatgctggg	14	11	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:107389968G>A	uc003prs.2	-	5	3077	c.2427C>T	c.(2425-2427)TGC>TGT	p.C809C		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	809	BEN 4.									ovary(3)	3						TGGGGCGGCGGCACCTCTCAT	0.582													A	107389968	G	A	107389968	2	1	80	1	0	0	0	0	0	0	0	1	1399	1195	42	2		2	BEND3	6	107389968	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	7540984	107389968	63725099	384	54326											
SOBP	55084	broad.mit.edu	37	chr6	107955723	107955723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacgggttctccagcaacGgggagaacttcattccgaac	10	13	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:107955723G>A	uc003prx.2	+	6	2179	c.1675G>A	c.(1675-1677)GGG>AGG	p.G559R		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	559							metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTCCAGCAACGGGGAGAACTT	0.687													A	107955723	G	A	107955723	3	1	80	1	0	0	0	0	1	0	0	0	14912	1116	39	1	1697	1	SOBP	6	107955723	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	565755	107955723	63159344	385	54327											
GPR6	2830	broad.mit.edu	37	chr6	110300781	110300781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctccttcgccgcctctGtcagcagcctgctggccatt	10	17	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:110300781G>A	uc011eaw.1	+	2	646	c.466G>A	c.(466-468)GTC>ATC	p.V156I	GPR6_uc011eav.1_Missense_Mutation_p.V171I|GPR6_uc003ptu.2_Missense_Mutation_p.V156I	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	156	Helical; Name=3; (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CGCCGCCTCTGTCAGCAGCCT	0.612													A	110300781	G	A	110300781	3	1	80	1	0	0	0	0	1	0	0	0	6701	1377	48	4	468	4	GPR6	6	110300781	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2345058	110300781	60814286	386	54328											
WISP3	8838	broad.mit.edu	37	chr6	112375318	112375318	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcgcccattcctgacctGtgacacgctcactgcgaagg	10	15	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:112375318G>A	uc003pvm.2	+	1	41	c.-69G>A	c.(-71--67)CTGTG>CTATG		WISP3_uc003pvn.2_RNA|WISP3_uc003pvo.2_5'Flank	NM_003880	NP_003871	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3						cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding				0		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TTCCTGACCTGTGACACGCTC	0.493													A	112375318	G	A	112375318	1	1	80	1	0	0	0	0	0	0	0	0	17371	1392	48	4		4	WISP3	6	112375318	Translation_Start_Site	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2074537	112375318	58739749	387	54329											
LAMA4	3910	broad.mit.edu	37	chr6	112476147	112476147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtatcaatcccactcacCgcctacaaaggaattgagag	8	11	2	2	rs140246538	by1000genomes	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:112476147C>T	uc003pvu.2	-	16	2271	c.1962G>A	c.(1960-1962)GCG>GCA	p.A654A	LAMA4_uc003pvv.2_Silent_p.A647A|LAMA4_uc003pvt.2_Silent_p.A647A	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	654	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCCCACTCACCGCCTACAAAG	0.383													T	112476147	C	T	112476147	2	4	80	1	0	0	0	0	0	0	0	1	8608	639	23	1		1	LAMA4	6	112476147	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	100829	112476147	58638920	388	54330											
FRK	2444	broad.mit.edu	37	chr6	116288822	116288822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaagctgtatggagttgcGgtctatctcccattggtcca	11	10	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:116288822G>A	uc003pwi.1	-	4	1138	c.691C>T	c.(691-693)CGC>TGC	p.R231C		NM_002031	NP_002022	P42685	FRK_HUMAN	fyn-related kinase	231					negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|lung(3)	6		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		ATGGAGTTGCGGTCTATCTCC	0.418													A	116288822	G	A	116288822	3	1	80	1	0	0	0	0	1	0	0	0	6048	1116	39	1	846	1	FRK	6	116288822	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	3812675	116288822	54826245	389	54331											
C6orf174	387104	broad.mit.edu	37	chr6	127836907	127836907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgcggctactgctgcCgccgccgttcttagcgtgca	14	14	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:127836907C>T	uc003qbd.2	-	2	1718	c.853G>A	c.(853-855)GGC>AGC	p.G285S		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	285						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		CTACTGCTGCCGCCGCCGTTC	0.706													T	127836907	C	T	127836907	3	4	80	1	0	0	0	0	1	0	0	0	2345	652	23	1	2014	1	C6orf174	6	127836907	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	11548085	127836907	43278160	390	54332											
LAMA2	3908	broad.mit.edu	37	chr6	129835564	129835564	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcagattcactgctgtctAtgatgctggggttccagggc	15	9	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:129835564A>G	uc003qbn.2	+	63	9140	c.9035A>G	c.(9034-9036)TAT>TGT	p.Y3012C	LAMA2_uc003qbo.2_Missense_Mutation_p.Y3008C|uc003qbq.2_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	3012	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACTGCTGTCTATGATGCTGGG	0.453													G	129835564	A	G	129835564	3	3	80	1	0	0	0	0	1	0	0	0	8606	449	16	3	9289	3	LAMA2	6	129835564	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	1998657	129835564	41279503	391	54333											
SLC2A12	154091	broad.mit.edu	37	chr6	134349555	134349555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaaagcagcaacataaaCaagcaagctggctaaggaca	9	8	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:134349555C>T	uc003qem.1	-	2	1579	c.1408G>A	c.(1408-1410)GTT>ATT	p.V470I		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose	470	Helical; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			ovary(1)	1	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GCAACATAAACAAGCAAGCTG	0.423													T	134349555	C	T	134349555	3	4	80	1	0	0	0	0	1	0	0	0	14541	478	17	4	461	4	SLC2A12	6	134349555	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	4513991	134349555	36765512	392	54334											
SGK1	6446	broad.mit.edu	37	chr6	134492026	134492028	+	In_Frame_Del	DEL	AGA	AGA	-													atcatcccagttaattaaggAgaagaagacatgactcttaa							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:134492025_134492027GAGA>G	uc003qen.4	-	10	1154_1156	c.1065_1067TCTC>C	c.(1063-1068)ttctcc>ttCc	p.S356del	SGK1_uc003qeo.4_In_Frame_Del_p.S451del|SGK1_uc011ect.2_In_Frame_Del_p.S346del|SGK1_uc011ecu.2_In_Frame_Del_p.S312del|SGK1_uc011ecv.2_In_Frame_Del_p.S370del|SGK1_uc011ecw.2_In_Frame_Del_p.S384del	NM_005627	NP_005618	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.	356	AGC-kinase C-terminal.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GTTAATTAAGGAGAAGAAGACAT	0.404													-	134492028	AGA	-	134492026	7	5	80	1	0	1	0	1	0	0	0	0	14207	304	11	0	237	0	SGK1	6	134492026	In_Frame_Del	DEL	AGA	TCGA-BR-8368-01A-11D-2340-08	142471	134492026	36623041	393	54335											
SGK1	6446	broad.mit.edu	37	chr6	134583282	134583282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgggctcttgatccaccttCgtacctgcaatgtgcaaaag	9	11	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:134583282C>T	uc003qeo.3	-	2	672	c.74G>A	c.(73-75)CGA>CAA	p.R25Q	SGK1_uc003qep.2_Missense_Mutation_p.R25Q	NM_001143676	NP_001137148	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1 isoform	Error:Variant_position_missing_in_O00141_after_alignment					apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(3)|stomach(1)|lung(1)|central_nervous_system(1)	6	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GATCCACCTTCGTACCTGCAA	0.502													T	134583282	C	T	134583282	3	4	80	1	0	0	0	0	1	0	0	0	14207	884	31	1	1924	1	SGK1	6	134583282	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	91256	134583282	36531785	394	54336											
BCLAF1	9774	broad.mit.edu	37	chr6	136597275	136597275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttccactacatatccagtcTctttaagtttataatttttt	2	8	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:136597275T>C	uc003qgx.1	-	5	1641	c.1388A>G	c.(1387-1389)GAG>GGG	p.E463G	BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Missense_Mutation_p.E461G|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.E461G	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	463					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATATCCAGTCTCTTTAAGTTT	0.338													C	136597275	T	C	136597275	3	2	80	1	0	0	0	0	1	0	0	0	1383	1551	54	3	1410	3	BCLAF1	6	136597275	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	2013993	136597275	34517792	395	54337											
BCLAF1	9774	broad.mit.edu	37	chr6	136597290	136597290	+	Frame_Shift_Del	DEL	T	T	-													cagtctctttaagtttataaTttttttcttctctaaatcca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:136597289_136597289AT>A	uc003qgx.1	-	4	1627	c.1374_1374AT>T	c.(1372-1374)aatfs	p.N458fs	BCLAF1_uc003qgy.1_Frame_Shift_Del_p.N456fs|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Frame_Shift_Del_p.N456fs|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	458					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TAAGTTTATAATTTTTTTCTT	0.358													-	136597290	T	-	136597290	7	5	80	1	0	1	0	1	0	0	0	0	1383	1493	52	0	1425	0	BCLAF1	6	136597290	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	15	136597290	34517777	396	54338											
BCLAF1	9774	broad.mit.edu	37	chr6	136599781	136599781	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctcctcctccttgataatAccctctaccccttcctctgt	2	19	2	1	rs142177067		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:136599781A>G	uc003qgx.1	-	4	491	c.238T>C	c.(238-240)TAT>CAT	p.Y80H	BCLAF1_uc003qgw.1_Missense_Mutation_p.Y80H|BCLAF1_uc003qgy.1_Missense_Mutation_p.Y78H|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.Y78H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	80					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCTTGATAATACCCTCTACCC	0.453													G	136599781	A	G	136599781	3	3	80	1	0	0	0	0	1	0	0	0	1383	391	14	3	2564	3	BCLAF1	6	136599781	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	2491	136599781	34515286	397	54339											
HECA	51696	broad.mit.edu	37	chr6	139487628	139487628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaacgagaagcaatgccGccagaacatgtggacaaaga	12	9	0	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:139487628G>A	uc003qin.2	+	2	764	c.479G>A	c.(478-480)CGC>CAC	p.R160H		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	160					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		AAGCAATGCCGCCAGAACATG	0.592													A	139487628	G	A	139487628	3	1	80	1	0	0	0	0	1	0	0	0	7038	1087	38	1	485	1	HECA	6	139487628	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2887847	139487628	31627439	398	54340											
C6orf211	79624	broad.mit.edu	37	chr6	151790162	151790162	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttggtctgcagcctgggCaaggggaacagctcctggcc	16	11	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:151790162C>T	uc003qok.1	+	5	1502	c.1243C>T	c.(1243-1245)CAA>TAA	p.Q415*	C6orf211_uc011ees.1_Nonsense_Mutation_p.Q296*	NM_024573	NP_078849	Q9H993	CF211_HUMAN	hypothetical protein LOC79624	415							protein binding				0			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		GCAGCCTGGGCAAGGGGAACA	0.483													T	151790162	C	T	151790162	4	4	80	1	0	0	0	0	0	1	0	0	2354	711	25	2	1261	2	C6orf211	6	151790162	Nonsense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	12302534	151790162	19324905	399	54341											
ESR1	2099	broad.mit.edu	37	chr6	152332821	152332821	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgaccctccatgatcaggTccaccttctagaatgtgcct	7	13	2	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:152332821T>C	uc003qom.3	+	7	1497	c.1127T>C	c.(1126-1128)GTC>GCC	p.V376A	ESR1_uc010kin.2_Missense_Mutation_p.V376A|ESR1_uc010kio.2_Missense_Mutation_p.V378A|ESR1_uc010kip.2_Missense_Mutation_p.V375A|ESR1_uc003qon.3_Missense_Mutation_p.V376A|ESR1_uc003qoo.3_Missense_Mutation_p.V376A|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Missense_Mutation_p.V45A|ESR1_uc011eex.1_Missense_Mutation_p.V157A|ESR1_uc010kit.1_Intron|ESR1_uc011eey.1_Missense_Mutation_p.V113A	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	estrogen receptor alpha isoform 4	376	Steroid-binding.|Interaction with AKAP13.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CATGATCAGGTCCACCTTCTA	0.468													C	152332821	T	C	152332821	3	2	80	1	0	0	0	0	1	0	0	0	5256	1667	58	3	1145	3	ESR1	6	152332821	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	542659	152332821	18782246	400	54342											
SYNE1	23345	broad.mit.edu	37	chr6	152477160	152477160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacaggcgtcacagtcgtGcagcaggacttcacacaggt	13	12	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:152477160G>A	uc010kiw.2	-	132	24465	c.23863C>T	c.(23863-23865)CAC>TAC	p.H7955Y	SYNE1_uc010kiv.2_Missense_Mutation_p.H2479Y|SYNE1_uc003qos.3_Missense_Mutation_p.H2479Y|SYNE1_uc003qot.3_Missense_Mutation_p.H7884Y|SYNE1_uc003qou.3_Missense_Mutation_p.H7955Y|SYNE1_uc003qop.3_Missense_Mutation_p.H117Y|SYNE1_uc011eez.1_Missense_Mutation_p.H157Y|SYNE1_uc003qoq.3_Missense_Mutation_p.H157Y|SYNE1_uc003qor.3_Missense_Mutation_p.H855Y	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7955	Spectrin 28.|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)		TCACAGTCGTGCAGCAGGACT	0.522										HNSCC(10;0.0054)			A	152477160	G	A	152477160	3	1	80	1	0	0	0	0	1	0	0	0	15442	1319	46	2	2663	2	SYNE1	6	152477160	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	144339	152477160	18637907	401	54343											
TULP4	56995	broad.mit.edu	37	chr6	158914725	158914725	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcctgactcggagagaGtttccttttgaagacatcac	9	12	1	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:158914725G>A	uc003qrf.2	+	10	3109	c.1752G>A	c.(1750-1752)GAG>GAA	p.E584E	TULP4_uc003qrg.2_Silent_p.E584E	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	584					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CTCGGAGAGAGTTTCCTTTTG	0.662													A	158914725	G	A	158914725	2	1	80	1	0	0	0	0	0	0	0	1	16773	1020	36	4		4	TULP4	6	158914725	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	6437565	158914725	12200342	402	54344											
TMEM181	57583	broad.mit.edu	37	chr6	159029369	159029369	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctttgtgttccagatccGttcttccccctctccttcct	5	18	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:159029369G>A	uc003qrm.3	+	9	1100	c.1089G>A	c.(1087-1089)CCG>CCA	p.P363P	TMEM181_uc010kjr.1_Silent_p.P194P	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	G protein-coupled receptor 178	363	Helical; (Potential).				pathogenesis	integral to membrane	toxin binding			ovary(2)|central_nervous_system(1)	3		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TTCCAGATCCGTTCTTCCCCC	0.587													A	159029369	G	A	159029369	2	1	80	1	0	0	0	0	0	0	0	1	16097	1132	40	1		1	TMEM181	6	159029369	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	114644	159029369	12085698	403	54345											
SLC22A3	6581	broad.mit.edu	37	chr6	160829897	160829897	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctacttcatccccaactgGcaaggaatccagttagccat	7	14	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:160829897G>A	uc003qti.2	+	4	828	c.801G>A	c.(799-801)TGG>TGA	p.W267*	SLC22A3_uc011efx.1_RNA	NM_021977	NP_068812	O75751	S22A3_HUMAN	solute carrier family 22 member 3	267						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TCCCCAACTGGCAAGGAATCC	0.418													A	160829897	G	A	160829897	4	1	80	1	0	0	0	0	0	1	0	0	14455	1212	42	2	815	2	SLC22A3	6	160829897	Nonsense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1800528	160829897	10285170	404	54346											
SLC22A3	6581	broad.mit.edu	37	chr6	160864677	160864677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagaaatttcggagtttcGctctgttcaggtctgtgtga	11	7	3	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:160864677G>A	uc003qti.2	+	9	1440	c.1413G>A	c.(1411-1413)TCG>TCA	p.S471S	SLC22A3_uc011efx.1_RNA	NM_021977	NP_068812	O75751	S22A3_HUMAN	solute carrier family 22 member 3	471	Helical; (Potential).					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TCGGAGTTTCGCTCTGTTCAG	0.378													A	160864677	G	A	160864677	2	1	80	1	0	0	0	0	0	0	0	1	14455	1074	38	1		1	SLC22A3	6	160864677	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	34780	160864677	10250390	405	54347											
PDE10A	10846	broad.mit.edu	37	chr6	165844963	165844964	+	Splice_Site	INS	-	-	A													agatttgctgttgcaacctaINSaaaaaaacaagaaatacata							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:165844962_165844963T>TA	uc003qun.3	-	9	909	c.664_splice	c.e9-1	p.V222_splice	PDE10A_uc011egj.2_Splice_Site|PDE10A_uc011egk.2_Splice_Site_p.V152_splice|PDE10A_uc003quo.3_Splice_Site_p.V232_splice	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	222	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TGTTGCAACCTAAAAAAAACAA	0.327													A	165844964	-	A	165844963	8	5	80	1	0	1	1	0	0	0	1	0	11630	377	13	0		0	PDE10A	6	165844963	Splice_Site	INS	-	TCGA-BR-8368-01A-11D-2340-08	4980286	165844963	5270104	406	54348											
TTLL2	83887	broad.mit.edu	37	chr6	167752266	167752266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccctcccaggcgaggccGcccaacaccaacactggaga	9	18	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:167752266G>A	uc003qvs.1	+	2	267	c.179G>A	c.(178-180)CGC>CAC	p.R60H	TTLL2_uc011egr.1_RNA	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	60					protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGGCGAGGCCGCCCAACACCA	0.443													A	167752266	G	A	167752266	3	1	80	1	0	0	0	0	1	0	0	0	16724	1087	38	1	185	1	TTLL2	6	167752266	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1907303	167752266	3362801	407	54349											
FRMD1	79981	broad.mit.edu	37	chr6	168457809	168457809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgtggtggagcctctcCgaacaggtccagggcgagac	14	13	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:168457809C>T	uc003qwo.3	-	11	1683	c.1618G>A	c.(1618-1620)GGA>AGA	p.G540R	FRMD1_uc003qwm.3_Missense_Mutation_p.G334R|FRMD1_uc011egs.1_Missense_Mutation_p.G311R|FRMD1_uc011egt.1_Missense_Mutation_p.G475R|FRMD1_uc003qwn.3_Missense_Mutation_p.G472R	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	FERM domain containing 1 isoform 1	540						cytoskeleton	binding			ovary(1)	1		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGAGCCTCTCCGAACAGGTCC	0.672													T	168457809	C	T	168457809	3	4	80	1	0	0	0	0	1	0	0	0	6049	661	23	1	35	1	FRMD1	6	168457809	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	705543	168457809	2657258	408	54350											
UNCX	340260	broad.mit.edu	37	chr7	1275553	1275553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggcgcacaactcgcaccCgaccacgtgcagcggcgagc	13	18	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:1275553C>T	uc011jvw.1	+	3	536	c.536C>T	c.(535-537)CCG>CTG	p.P179L		NM_001080461	NP_001073930	A6NJT0	UNC4_HUMAN	UNC homeobox	179					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		AACTCGCACCCGACCACGTGC	0.632													T	1275553	C	T	1275553	3	4	80	1	0	0	0	0	1	0	0	0	16995	652	23	1	546	1	UNCX	7	1275553	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08		1275553	157863110	409	54351											
INTS1	26173	broad.mit.edu	37	chr7	1518141	1518141	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgcaggagcccccctcgCactgtgggaggtctgtgtga	16	12	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:1518141C>T	uc003skn.2	-	33	4592	c.4491G>A	c.(4489-4491)GTG>GTA	p.V1497V	INTS1_uc003skm.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1497					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCCCCCCTCGCACTGTGGGAG	0.697													T	1518141	C	T	1518141	2	4	80	1	0	0	0	0	0	0	0	1	7775	724	25	2		2	INTS1	7	1518141	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	242588	1518141	157620522	410	54352											
MAD1L1	8379	broad.mit.edu	37	chr7	1997266	1997266	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggctgccccgccctcacctGcagagctcgccgctccagct	10	20	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:1997266G>C	uc003slh.1	-	16	1860	c.1594C>G	c.(1594-1596)CAG>GAG	p.Q532E	MAD1L1_uc003sle.1_Missense_Mutation_p.Q261E|MAD1L1_uc003slf.1_Missense_Mutation_p.Q532E|MAD1L1_uc003slg.1_Missense_Mutation_p.Q532E|MAD1L1_uc010ksh.1_Missense_Mutation_p.Q532E|MAD1L1_uc003sli.1_Missense_Mutation_p.Q440E|MAD1L1_uc010ksi.1_Missense_Mutation_p.Q485E|MAD1L1_uc010ksj.2_Missense_Mutation_p.Q532E	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	532	Necessary for interaction with NEK2.|Potential.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GCCCTCACCTGCAGAGCTCGC	0.637													C	1997266	G	C	1997266	3	2	80	1	0	0	0	0	1	0	0	0	9147	1328	46	5	578	5	MAD1L1	7	1997266	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	479125	1997266	157141397	411	54353											
SDK1	221935	broad.mit.edu	37	chr7	4002384	4002384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcgccagcggaggcctgCgcatccagaagctgcgtcca	13	15	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:4002384C>T	uc003smx.2	+	9	1469	c.1330C>T	c.(1330-1332)CGC>TGC	p.R444C		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	444	Ig-like C2-type 4.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGGAGGCCTGCGCATCCAGAA	0.597													T	4002384	C	T	4002384	3	4	80	1	0	0	0	0	1	0	0	0	13968	768	27	1	1364	1	SDK1	7	4002384	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2005118	4002384	155136279	412	54354											
SP8	221833	broad.mit.edu	37	chr7	20825187	20825187	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgccgcagccgccgaggaCgagccgccgttcctggaggc	16	17	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:20825187C>T	uc003suy.2	-	3	436	c.195G>A	c.(193-195)TCG>TCA	p.S65S	SP8_uc003suz.2_Silent_p.S83S	NM_198956	NP_945194	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor isoform 2	65	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1						ccgccgAGGACGAGCCGCCGT	0.517													T	20825187	C	T	20825187	2	4	80	1	0	0	0	0	0	0	0	1	14970	523	19	1		1	SP8	7	20825187	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	16822803	20825187	138313476	413	54355											
HOXA4	3201	broad.mit.edu	37	chr7	27169037	27169037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaccagatcttgacctggCgctcagacaaacagagcgtg	11	11	2	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:27169037C>T	uc003sym.3	-	2	817	c.770G>A	c.(769-771)CGC>CAC	p.R257H	HOXA3_uc003syk.2_5'Flank	NM_002141	NP_002132	Q00056	HXA4_HUMAN	homeobox A4	257	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						CTTGACCTGGCGCTCAGACAA	0.572													T	27169037	C	T	27169037	3	4	80	1	0	0	0	0	1	0	0	0	7294	768	27	1	196	1	HOXA4	7	27169037	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	6343850	27169037	131969626	414	54356											
EVX1	2128	broad.mit.edu	37	chr7	27285699	27285699	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcgccgcatccgccgcCtccgccgccgcctcgccctt	11	23	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:27285699C>A	uc003szd.1	+	3	1365	c.879C>A	c.(877-879)GCC>GCA	p.A293A	EVX1_uc011jzn.1_Silent_p.A111A|EVX1_uc010kuy.1_3'UTR	NM_001989	NP_001980	P49640	EVX1_HUMAN	even-skipped homeobox 1	293	Ala-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						CATCCGCCGCCTCCGCCGCCG	0.761													A	27285699	C	A	27285699	2	1	80	1	0	0	0	0	0	0	0	1	5294	668	24	5		5	EVX1	7	27285699	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	116662	27285699	131852964	415	54357											
EEPD1	80820	broad.mit.edu	37	chr7	36194777	36194777	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccaacaaccccggggtgCgagaggtggtgtgcatgaca	16	10	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:36194777C>T	uc003tfa.2	+	2	1484	c.844C>T	c.(844-846)CGA>TGA	p.R282*		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	282					DNA repair		DNA binding				0						CCCCGGGGTGCGAGAGGTGGT	0.592													T	36194777	C	T	36194777	4	4	80	1	0	0	0	0	0	1	0	0	4932	760	27	1	846	1	EEPD1	7	36194777	Nonsense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	8909078	36194777	122943886	416	54358											
AMPH	273	broad.mit.edu	37	chr7	38502690	38502690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcggtgatggtgtctttGcaatgcggagaggacccgaa	16	8	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:38502690G>A	uc003tgu.2	-	10	842	c.773C>T	c.(772-774)GCA>GTA	p.A258V	AMPH_uc003tgv.2_Missense_Mutation_p.A258V|AMPH_uc003tgt.2_Missense_Mutation_p.A11V	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	258					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						TGGTGTCTTTGCAATGCGGAG	0.547													A	38502690	G	A	38502690	3	1	80	1	0	0	0	0	1	0	0	0	588	1319	46	2	1362	2	AMPH	7	38502690	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2307913	38502690	120635973	417	54359											
TNS3	64759	broad.mit.edu	37	chr7	47463773	47463773	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgcaaacctgtcaagggcCtggtcggcgctgaaggggag	16	9	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:47463773C>A	uc003tnv.2	-	10	766	c.399G>T	c.(397-399)CAG>CAT	p.Q133H	TNS3_uc003tnw.2_Missense_Mutation_p.Q133H|TNS3_uc010kyo.1_Missense_Mutation_p.Q133H	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	133	Phosphatase tensin-type.					focal adhesion	protein binding			ovary(4)	4						TGTCAAGGGCCTGGTCGGCGC	0.488													A	47463773	C	A	47463773	3	1	80	1	0	0	0	0	1	0	0	0	16341	680	24	5	4026	5	TNS3	7	47463773	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	8961083	47463773	111674890	418	54360											
UPP1	7378	broad.mit.edu	37	chr7	48147888	48147888	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccctcgcaatgtgctcagCgagtaccagcagaggccgca	12	14	1	1	rs2230763	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:48147888C>T	uc003toj.2	+	10	1396	c.867C>T	c.(865-867)AGC>AGT	p.S289S	UPP1_uc003tok.2_Silent_p.S289S|UPP1_uc003tol.2_Silent_p.S289S|UPP1_uc011kch.1_Silent_p.S82S|UPP1_uc003ton.2_Silent_p.S152S|UPP1_uc003too.2_Silent_p.S152S	NM_181597	NP_853628	Q16831	UPP1_HUMAN	uridine phosphorylase 1	289					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity				0						ATGTGCTCAGCGAGTACCAGC	0.602													T	48147888	C	T	48147888	2	4	80	1	0	0	0	0	0	0	0	1	17009	767	27	1		1	UPP1	7	48147888	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	684115	48147888	110990775	419	54361											
LANCL2	55915	broad.mit.edu	37	chr7	55479744	55479744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgcactggtgccacggcGccccgggggtcatccacatg	15	14	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:55479744G>A	uc003tqp.2	+	6	1548	c.970G>A	c.(970-972)GCC>ACC	p.A324T		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	324					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			ovary(1)|skin(1)	2	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			GTGCCACGGCGCCCCGGGGGT	0.562													A	55479744	G	A	55479744	3	1	80	1	0	0	0	0	1	0	0	0	8621	1087	38	1	992	1	LANCL2	7	55479744	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	7331856	55479744	103658919	420	54362											
GBAS	2631	broad.mit.edu	37	chr7	56062600	56062600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacagggctcgtgcaatcCgcttcagacaggatggtaac	11	11	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:56062600C>T	uc003tre.1	+	8	639	c.631C>T	c.(631-633)CGC>TGC	p.R211C	GBAS_uc003trf.1_Missense_Mutation_p.R172C	NM_001483	NP_001474	O75323	NIPS2_HUMAN	nipsnap homolog 2	211						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			central_nervous_system(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCGTGCAATCCGCTTCAGACA	0.458													T	56062600	C	T	56062600	3	4	80	1	0	0	0	0	1	0	0	0	6269	652	23	1	661	1	GBAS	7	56062600	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	582856	56062600	103076063	421	54363											
POR	5447	broad.mit.edu	37	chr7	75608843	75608843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaccgcctgtccaaggaCgcccaccgctacgggatgcg	12	17	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:75608843C>T	uc003udy.2	+	4	394	c.312C>T	c.(310-312)GAC>GAT	p.D104D	POR_uc011kgb.1_RNA|POR_uc011kgc.1_5'Flank|POR_uc011kgd.1_5'Flank|POR_uc011kge.1_5'Flank	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	101	Flavodoxin-like.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	TGTCCAAGGACGCCCACCGCT	0.622													T	75608843	C	T	75608843	2	4	80	1	0	0	0	0	0	0	0	1	12257	535	19	1		1	POR	7	75608843	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	19546243	75608843	83529820	422	54364											
PTPN12	5782	broad.mit.edu	37	chr7	77247840	77247840	+	Frame_Shift_Del	DEL	A	A	-													ggtcagctccatagagcctgAaaaacaagattctcctcctc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:77247840delA	uc003ugh.2	+	12	1074	c.983delA	c.(982-984)GAAfs	p.E328fs	PTPN12_uc011kgp.1_Frame_Shift_Del_p.E209fs|PTPN12_uc011kgq.1_Frame_Shift_Del_p.E198fs|PTPN12_uc010lds.2_Frame_Shift_Del_p.E60fs	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	328						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3						ATAGAGCCTGAAAAACAAGAT	0.363													-	77247840	A	-	77247840	7	5	80	1	0	1	0	1	0	0	0	0	12781	246	9	0	1029	0	PTPN12	7	77247840	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	1638997	77247840	81890823	423	54365											
MAGI2	9863	broad.mit.edu	37	chr7	77789517	77789517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgttggtgtaggttgcGtagtcactgcgtggagagct	16	6	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:77789517G>A	uc003ugx.2	-	16	2924	c.2670C>T	c.(2668-2670)TAC>TAT	p.Y890Y	MAGI2_uc003ugy.2_Silent_p.Y876Y|MAGI2_uc010ldx.1_Silent_p.Y483Y	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	890						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGTAGGTTGCGTAGTCACTGC	0.577													A	77789517	G	A	77789517	2	1	80	1	0	0	0	0	0	0	0	1	9191	1140	40	1		1	MAGI2	7	77789517	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	541677	77789517	81349146	424	54366											
CACNA2D1	781	broad.mit.edu	37	chr7	81599268	81599268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatagaagctgtcctcatatGtctctgggttttcttgccaa	8	9	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:81599268G>A	uc003uhr.1	-	28	2493	c.2237C>T	c.(2236-2238)ACA>ATA	p.T746I	CACNA2D1_uc011kgy.1_Intron	NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	758	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GTCCTCATATGTCTCTGGGTT	0.373													A	81599268	G	A	81599268	3	1	80	1	0	0	0	0	1	0	0	0	2548	1377	48	4	1086	4	CACNA2D1	7	81599268	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	3809751	81599268	77539395	425	54367											
PCLO	27445	broad.mit.edu	37	chr7	82582944	82582944	+	Frame_Shift_Del	DEL	T	T	-													ctggagatgcaactgttaacTtttttttaggaagaatagtt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:82582944delT	uc003uhx.2	-	5	7614	c.7325delA	c.(7324-7326)AAGfs	p.K2442fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.K2442fs|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2373	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AACTGTTAACTTTTTTTTAGG	0.274													-	82582944	T	-	82582944	7	5	80	1	0	1	0	1	0	0	0	0	11583	1609	56	0	8204	0	PCLO	7	82582944	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	983676	82582944	76555719	426	54368											
KIAA1324L	222223	broad.mit.edu	37	chr7	86522242	86522242	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcagagggtacttacttttGattctttttccagaagtagc	8	8	2	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:86522242G>A	uc011kha.1	-	20	3045	c.2860C>T	c.(2860-2862)CAA>TAA	p.Q954*	KIAA1324L_uc003uif.1_Nonsense_Mutation_p.Q714*|KIAA1324L_uc011kgz.1_Nonsense_Mutation_p.Q840*|KIAA1324L_uc003uie.2_Nonsense_Mutation_p.Q787*	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	954	Cytoplasmic (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)					ACTTACTTTTGATTCTTTTTC	0.428													A	86522242	G	A	86522242	4	1	80	1	0	0	0	0	0	1	0	0	8224	1299	45	4	241	4	KIAA1324L	7	86522242	Nonsense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	3939298	86522242	72616421	427	54369											
CROT	54677	broad.mit.edu	37	chr7	86978480	86978480	+	Frame_Shift_Del	DEL	A	A	-													ccttcacttgaagaatcattAaaaaaataccttgaatcagg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:86978480delA	uc003uit.2	+	3	341	c.96delA	c.(94-96)TTAfs	p.L32fs	CROT_uc003uis.3_Frame_Shift_Del_p.L32fs|CROT_uc003uiu.2_Frame_Shift_Del_p.L32fs	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN	peroxisomal carnitine O-octanoyltransferase	32					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			ovary(2)|lung(1)	3	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AAGAATCATTAAAAAAATACC	0.264													-	86978480	A	-	86978480	7	5	80	1	0	1	0	1	0	0	0	0	3894	359	13	0	98	0	CROT	7	86978480	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	456238	86978480	72160183	428	54370											
PEX1	5189	broad.mit.edu	37	chr7	92118635	92118635	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaattcttccagtcatcttCactaatggatggtcttgtgt	7	8	5	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:92118635C>T	uc003uly.2	-	23	3835	c.3739G>A	c.(3739-3741)GAA>AAA	p.E1247K	PEX1_uc011khr.1_Missense_Mutation_p.E1039K|PEX1_uc010ley.2_Missense_Mutation_p.E1190K|PEX1_uc011khs.1_Missense_Mutation_p.E925K	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	1247					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CAGTCATCTTCACTAATGGAT	0.388													T	92118635	C	T	92118635	3	4	80	1	0	0	0	0	1	0	0	0	11735	835	29	4	120	4	PEX1	7	92118635	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	5140155	92118635	67020028	429	54371											
C7orf64	84060	broad.mit.edu	37	chr7	92164141	92164141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagaagaagagaagatgatCgtaaacttggaacttttctt	9	4	1	5			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:92164141C>T	uc003ulz.2	+	4	915	c.874C>T	c.(874-876)CGT>TGT	p.R292C	C7orf64_uc003uma.2_Missense_Mutation_p.R292C	NM_032120	NP_115496	Q5RL73	CG064_HUMAN	hypothetical protein LOC84060	292							nucleotide binding			ovary(2)	2						AGAAGATGATCGTAAACTTGG	0.428													T	92164141	C	T	92164141	3	4	80	1	0	0	0	0	1	0	0	0	2410	884	31	1	888	1	C7orf64	7	92164141	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	45506	92164141	66974522	430	54372											
HEPACAM2	253012	broad.mit.edu	37	chr7	92844875	92844875	+	Frame_Shift_Del	DEL	T	T	-													tggtgtggacaggtctcccaTtttttagccattggtaagct							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:92844875delT	uc003umm.2	-	3	577	c.554delA	c.(553-555)AATfs	p.N185fs	HEPACAM2_uc003uml.2_Frame_Shift_Del_p.N173fs|HEPACAM2_uc010lff.2_Frame_Shift_Del_p.N173fs|HEPACAM2_uc011khy.1_Frame_Shift_Del_p.N208fs	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 1	185	Ig-like C2-type 1.|Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5						AGGTCTCCCATTTTTTAGCCA	0.507													-	92844875	T	-	92844875	7	5	80	1	0	1	0	1	0	0	0	0	7053	1493	52	0	866	0	HEPACAM2	7	92844875	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	680734	92844875	66293788	431	54373											
TECPR1	25851	broad.mit.edu	37	chr7	97862826	97862827	+	Frame_Shift_Ins	INS	-	-	A													agcgggtggtcatccaccccINSatacggctcctccaagccca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:97862826_97862827insA	uc003upg.2	-	11	1783_1784	c.1578_1579insT	c.(1576-1581)TATGGGfs	p.Y526fs	TECPR1_uc003uph.1_Frame_Shift_Ins_p.Y456fs	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	526_527						integral to membrane	protein binding			pancreas(1)	1						TCATCCACCCCATACGGCTCCT	0.673													A	97862827	-	A	97862826	7	5	80	1	0	1	1	0	0	0	0	0	15740	594	21	0	1982	0	TECPR1	7	97862826	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	5017951	97862826	61275837	432	54374	223	2									
TECPR1	25851	broad.mit.edu	37	chr7	97862827	97862828	+	Frame_Shift_Ins	INS	-	-	A													gcgggtggtcatccaccccaINStacggctcctccaagcccag							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:97862826_97862827C>CA	uc003upg.3	-	10	1783_1784	c.1578_1579G>TG	c.(1576-1581)tatgggfs	p.Y526fs	TECPR1_uc003uph.1_Frame_Shift_Ins_p.Y456fs	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	526						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCATCCACCCCATACGGCTCCT	0.673													A	97862828	-	A	97862827	7	5	80	1	0	1	1	0	0	0	0	0	15740	224	8	0	1983	0	TECPR1	7	97862827	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	1	97862827	61275836	433	54375	223	2									
STAG3	10734	broad.mit.edu	37	chr7	99779803	99779803	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagcagcaaaacgaccaccGaaaacaacaccggtgagtca	9	12	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:99779803G>A	uc003utx.1	+	3	362	c.207G>A	c.(205-207)CCG>CCA	p.P69P	STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Silent_p.P69P	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	69					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AACGACCACCGAAAACAACAC	0.358													A	99779803	G	A	99779803	2	1	80	1	0	0	0	0	0	0	0	1	15243	1045	37	1		1	STAG3	7	99779803	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1916976	99779803	59358860	434	54376											
AGFG2	3268	broad.mit.edu	37	chr7	100161926	100161926	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctccaccaaccccttcatGgtgagtgtgccagcaggggt	11	13	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:100161926G>T	uc003uvf.2	+	11	1522	c.1386G>T	c.(1384-1386)ATG>ATT	p.M462I	AGFG2_uc010lgy.2_Nonstop_Mutation_p.*255L	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	462					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1						ACCCCTTCATGGTGAGTGTGC	0.622											OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	100161926	G	T	100161926	3	4	80	1	0	0	0	0	1	0	0	0	381	1362	47	5	1428	5	AGFG2	7	100161926	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	382123	100161926	58976737	435	54377											
SLC12A9	56996	broad.mit.edu	37	chr7	100452000	100452000	+	Frame_Shift_Del	DEL	G	G	-													tagttgtttttctgaggattGgtgagtgggtcctggggcgg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:100452000delG	uc003uwp.2	+	2	323	c.181delG	c.(181-183)GGGfs	p.G61fs	SLC12A9_uc003uwo.1_Frame_Shift_Del_p.D61fs|SLC12A9_uc003uwq.2_Frame_Shift_Del_p.D61fs|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'Flank|SLC12A9_uc003uws.2_5'Flank|SLC12A9_uc003uwt.2_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	61	Extracellular (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCTGAGGATTGGTGAGTGGGT	0.582													-	100452000	G	-	100452000	7	5	80	1	0	1	0	1	0	0	0	0	14390	1362	47	0	183	0	SLC12A9	7	100452000	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	290074	100452000	58686663	436	54378											
ACHE	43	broad.mit.edu	37	chr7	100491560	100491560	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacatattggtagcagacActctggaaggttgtagcgtc	11	9	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:100491560A>G	uc003uxd.2	-	1	450	c.294T>C	c.(292-294)AGT>AGC	p.S98S	ACHE_uc003uxe.2_Silent_p.S98S|ACHE_uc003uxf.2_Silent_p.S98S|ACHE_uc003uxg.2_Silent_p.S98S|ACHE_uc003uxh.2_Silent_p.S98S|ACHE_uc003uxi.2_Silent_p.S98S|ACHE_uc003uxj.1_Silent_p.S217S	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	98					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GGTAGCAGACACTCTGGAAGG	0.597													G	100491560	A	G	100491560	2	3	80	1	0	0	0	0	0	0	0	1	141	156	6	3		3	ACHE	7	100491560	Silent	SNP	A	TCGA-BR-8368-01A-11D-2340-08	39560	100491560	58647103	437	54379											
PLOD3	8985	broad.mit.edu	37	chr7	100855927	100855927	+	Frame_Shift_Del	DEL	G	G	-													aaacacggccagaaacacccGggggggaggctggaagatgc					rs138002558	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:100855926_100855926CG>C	uc003uyd.3	-	8	1346	c.890_890CG>G	c.(889-891)cggfs	p.R297fs		NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	297					protein modification process	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.R297fs*61(2)|p.P296L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CAGAAACACCCGGGGGGGAGG	0.642													-	100855927	G	-	100855927	7	5	80	1	0	1	0	1	0	0	0	0	12103	1115	39	0	1371	0	PLOD3	7	100855927	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	364367	100855927	58282736	438	54380											
FBXL13	222235	broad.mit.edu	37	chr7	102566738	102566738	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacctcggcaggagtcgcatCgtcctgttggtgatagttgt	13	9	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:102566738C>T	uc003vaq.2	-	10	1288	c.861G>A	c.(859-861)ACG>ACA	p.T287T	FBXL13_uc010liq.1_Silent_p.T102T|FBXL13_uc010lir.1_Silent_p.T287T|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Silent_p.T287T|LRRC17_uc003vat.2_Intron|LRRC17_uc003vau.2_Intron	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	287	LRR 3.										0						GGAGTCGCATCGTCCTGTTGG	0.463													T	102566738	C	T	102566738	2	4	80	1	0	0	0	0	0	0	0	1	5709	871	31	1		1	FBXL13	7	102566738	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1710811	102566738	56571925	439	54381											
LAMB4	22798	broad.mit.edu	37	chr7	107706348	107706348	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaagaaggatttccatAgtaaccatcaatacacctgt	6	10	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:107706348A>G	uc010ljo.1	-	21	2779	c.2695T>C	c.(2695-2697)TAT>CAT	p.Y899H	LAMB4_uc003vey.2_Missense_Mutation_p.Y899H|LAMB4_uc010ljp.1_5'Flank	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	899	Laminin EGF-like 8.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						GGATTTCCATAGTAACCATCA	0.418													G	107706348	A	G	107706348	3	3	80	1	0	0	0	0	1	0	0	0	8613	420	15	3	2646	3	LAMB4	7	107706348	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	5139610	107706348	51432315	440	54382											
KCND2	3751	broad.mit.edu	37	chr7	119914694	119914694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcaagtaatcatggcggCgggggtggcagcgtggctgc	18	9	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:119914694C>T	uc003vjj.1	+	1	973	c.8C>T	c.(7-9)GCG>GTG	p.A3V		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	3	Interaction with KCNIP2.|Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					ATCATGGCGGCGGGGGTGGCA	0.607													T	119914694	C	T	119914694	3	4	80	1	0	0	0	0	1	0	0	0	8019	768	27	1	10	1	KCND2	7	119914694	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	12208346	119914694	39223969	441	54383											
ASB15	142685	broad.mit.edu	37	chr7	123267185	123267185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgatgtgcttgctttggCggatgatggggcgtcggtgc	19	6	0	2	rs138215101	by1000genomes	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:123267185C>T	uc003vku.1	+	9	1011	c.719C>T	c.(718-720)GCG>GTG	p.A240V	ASB15_uc003vkv.1_Missense_Mutation_p.A240V|ASB15_uc003vkw.1_Missense_Mutation_p.A240V	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	240	ANK 4.				intracellular signal transduction					skin(2)|lung(1)	3						CTTGCTTTGGCGGATGATGGG	0.488													T	123267185	C	T	123267185	3	4	80	1	0	0	0	0	1	0	0	0	1019	768	27	1	741	1	ASB15	7	123267185	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3352491	123267185	35871478	442	54384											
LEP	3952	broad.mit.edu	37	chr7	127894705	127894705	+	Frame_Shift_Del	DEL	G	G	-													ctggagaccttggacagcctGgggggtgtcctggaagcttc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:127894704_127894704TG>T	uc003vml.2	+	2	449	c.392_392TG>T	c.(391-393)ctgfs	p.L131fs	LEP_uc003vmm.2_Frame_Shift_Del_p.L130fs	NM_000230	NP_000221	P41159	LEP_HUMAN	Homo sapiens leptin (LEP), mRNA.	131					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						TTGGACAGCCTGGGGGGTGTC	0.627													-	127894705	G	-	127894705	7	5	80	1	0	1	0	1	0	0	0	0	8727	1335	47	0	399	0	LEP	7	127894705	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	4627520	127894705	31243958	443	54385											
FAM71F1	84691	broad.mit.edu	37	chr7	128370003	128370003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccttgcacctgtgacctaCgttggagggcttcattcacg	10	13	2	1	rs140953386	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:128370003C>T	uc003vno.1	+	6	954	c.901C>T	c.(901-903)CGT>TGT	p.R301C	FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.R200C|FAM71F1_uc003vnp.1_Missense_Mutation_p.R299C	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	testes development-related NYD-SP18	301										skin(1)	1						CTGTGACCTACGTTGGAGGGC	0.547													T	128370003	C	T	128370003	3	4	80	1	0	0	0	0	1	0	0	0	5612	536	19	1	923	1	FAM71F1	7	128370003	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	475298	128370003	30768660	444	54386											
FLNC	2318	broad.mit.edu	37	chr7	128470903	128470903	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcgacgggctccggctcaTcgcgctgctcgaggtgctca	14	15	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:128470903T>C	uc003vnz.3	+	1	421	c.212T>C	c.(211-213)ATC>ACC	p.I71T	FLNC_uc003voa.3_Missense_Mutation_p.I71T	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	71	CH 1.|Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CTCCGGCTCATCGCGCTGCTC	0.637													C	128470903	T	C	128470903	3	2	80	1	0	0	0	0	1	0	0	0	5935	1435	50	3	214	3	FLNC	7	128470903	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	100900	128470903	30667760	445	54387											
PLXNA4	91584	broad.mit.edu	37	chr7	132192848	132192848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagttcttggtcagtttcCggctggagatggtgggaaaa	15	6	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:132192848C>T	uc003vra.3	-	2	834	c.605G>A	c.(604-606)CGG>CAG	p.R202Q	PLXNA4_uc003vrc.2_Missense_Mutation_p.R202Q|PLXNA4_uc003vrb.2_Missense_Mutation_p.R202Q	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	202	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GGTCAGTTTCCGGCTGGAGAT	0.532													T	132192848	C	T	132192848	3	4	80	1	0	0	0	0	1	0	0	0	12122	652	23	1	5517	1	PLXNA4	7	132192848	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3721945	132192848	26945815	446	54388											
DGKI	9162	broad.mit.edu	37	chr7	137293790	137293790	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatgggttttatcacaaaAggacgacctttgttttcctg	10	7	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:137293790A>G	uc003vtt.2	-	10	1090	c.1089T>C	c.(1087-1089)CCT>CCC	p.P363P	DGKI_uc003vtu.2_Silent_p.P63P	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	363					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						TTATCACAAAAGGACGACCTT	0.438													G	137293790	A	G	137293790	2	3	80	1	0	0	0	0	0	0	0	1	4471	59	3	3		3	DGKI	7	137293790	Silent	SNP	A	TCGA-BR-8368-01A-11D-2340-08	5100942	137293790	21844873	447	54389											
TBXAS1	6916	broad.mit.edu	37	chr7	139719830	139719830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctctattttaggtaccGctgcagctagaatccaaatc	6	10	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:139719830G>A	uc011kqv.1	+	14	1838	c.1674G>A	c.(1672-1674)CCG>CCA	p.P558P	TBXAS1_uc003vvh.2_Silent_p.P512P|TBXAS1_uc010lne.2_Silent_p.P444P|TBXAS1_uc003vvi.2_Silent_p.P512P|TBXAS1_uc003vvj.2_Missense_Mutation_p.R458H|TBXAS1_uc011kqw.1_Silent_p.P492P	NM_001130966	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1, platelet isoform	511	Cytoplasmic (Potential).				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			ovary(2)|breast(1)	3	Melanoma(164;0.0142)					TTTAGGTACCGCTGCAGCTAG	0.318													A	139719830	G	A	139719830	2	1	80	1	0	0	0	0	0	0	0	1	15661	1087	38	1		1	TBXAS1	7	139719830	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2426040	139719830	19418833	448	54390											
JHDM1D	80853	broad.mit.edu	37	chr7	139833448	139833448	+	Frame_Shift_Del	DEL	T	T	-													atgtctgtgccagttcctccTttttttcactggatttttaa							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:139833447_139833447CT>C	uc003vvm.3	-	2	294	c.290_290AG>G	c.(289-291)aggfs	p.R97fs		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	97	Linker.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CCAGTTCCTCCTTTTTTTCAC	0.338													-	139833448	T	-	139833448	7	5	80	1	0	1	0	1	0	0	0	0	7948	1608	56	0	2608	0	JHDM1D	7	139833448	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	113618	139833448	19305215	449	54391											
MGAM	8972	broad.mit.edu	37	chr7	141747660	141747660	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaacttttctgggataaTggggaaacgaagggtgagca	16	4	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:141747660T>C	uc003vwy.2	+	22	2628	c.2574T>C	c.(2572-2574)AAT>AAC	p.N858N		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	858	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTGGGATAATGGGGAAACGA	0.463													C	141747660	T	C	141747660	2	2	80	1	0	0	0	0	0	0	0	1	9541	1461	51	3		3	MGAM	7	141747660	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	1914212	141747660	17391003	450	54392											
TRPV5	56302	broad.mit.edu	37	chr7	142622641	142622641	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgtagtagtttttgctGgaggatggtgatgtctcgag	14	6	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:142622641G>A	uc003wby.1	-	8	1369	c.1105C>T	c.(1105-1107)CAG>TAG	p.Q369*	TRPV5_uc003wbz.2_Nonsense_Mutation_p.Q369*	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	369	Extracellular (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					AGTTTTTGCTGGAGGATGGTG	0.517													A	142622641	G	A	142622641	4	1	80	1	0	0	0	0	0	1	0	0	16596	1357	47	4	1116	4	TRPV5	7	142622641	Nonsense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	874981	142622641	16516022	451	54393											
CUL1	8454	broad.mit.edu	37	chr7	148485743	148485743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagcaattcaaaaagcactTgacaaactcagaacccctag	6	12	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:148485743T>C	uc010lpg.2	+	14	2100	c.1574T>C	c.(1573-1575)TTG>TCG	p.L525S	CUL1_uc003wey.2_Missense_Mutation_p.L525S|CUL1_uc003wez.2_Missense_Mutation_p.L415S|CUL1_uc003wfa.2_Missense_Mutation_p.L186S	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	525					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AAAAAGCACTTGACAAACTCA	0.428													C	148485743	T	C	148485743	3	2	80	1	0	0	0	0	1	0	0	0	4054	1821	63	3	1624	3	CUL1	7	148485743	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	5863102	148485743	10652920	452	54394											
CUL1	8454	broad.mit.edu	37	chr7	148495753	148495753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaaacatcgaggaagaccGcaaactactgattcaggtga	9	9	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:148495753G>A	uc010lpg.2	+	20	2646	c.2120G>A	c.(2119-2121)CGC>CAC	p.R707H	CUL1_uc003wey.2_Missense_Mutation_p.R707H|CUL1_uc003wez.2_Missense_Mutation_p.R597H|CUL1_uc003wfa.2_Missense_Mutation_p.R368H	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	707					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GAGGAAGACCGCAAACTACTG	0.498													A	148495753	G	A	148495753	3	1	80	1	0	0	0	0	1	0	0	0	4054	1087	38	1	2194	1	CUL1	7	148495753	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	10010	148495753	10642910	453	54395											
ZNF282	8427	broad.mit.edu	37	chr7	148921307	148921307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgcggcaagagcttcggCgtgcgcaagagcctcatcat	14	11	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:148921307C>T	uc003wfm.2	+	8	1689	c.1584C>T	c.(1582-1584)GGC>GGT	p.G528G	ZNF282_uc011kun.1_Intron|ZNF282_uc003wfo.2_Missense_Mutation_p.A205V	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	528	C2H2-type 1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		AGAGCTTCGGCGTGCGCAAGA	0.647													T	148921307	C	T	148921307	2	4	80	1	0	0	0	0	0	0	0	1	17816	755	27	1		1	ZNF282	7	148921307	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	425554	148921307	10217356	454	54396											
SSPO	23145	broad.mit.edu	37	chr7	149489430	149489431	+	Frame_Shift_Del	DEL	GT	GT	-													gtgctgggcagcgaggggtgGtgtgtgtggccccggcagtg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:149489430_149489431delGT	uc010lpk.2	+	38	5583_5584	c.5583_5584delGT	c.(5581-5586)TGGTGTfs	p.W1861fs		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1861_1862	EGF-like 1.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCGAGGGGTGGTGTGTGTGGCC	0.683													-	149489431	GT	-	149489430	7	5	80	1	0	1	0	1	0	0	0	0	15188	1270	44	0	5725	0	SSPO	7	149489430	Frame_Shift_Del	DEL	GT	TCGA-BR-8368-01A-11D-2340-08	568123	149489430	9649233	455	54397											
RBM33	155435	broad.mit.edu	37	chr7	155493520	155493520	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcaaagaagaatcagatgaAgaagaagaagatgatgaaga	11	2	2	11			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:155493520A>T	uc010lqk.1	+	6	989	c.621A>T	c.(619-621)GAA>GAT	p.E207D	RBM33_uc003wme.2_Missense_Mutation_p.E207D|RBM33_uc011kvv.1_Missense_Mutation_p.E16D	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	207	Glu-rich.						nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		aatcagatgaagaagaagaag	0.299													T	155493520	A	T	155493520	3	4	80	1	0	0	0	0	1	0	0	0	13130	69	3	5	643	5	RBM33	7	155493520	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	6004090	155493520	3645143	456	54398											
ZNF596	169270	broad.mit.edu	37	chr8	195449	195449	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attggaatgtcgtgtgtgtgGgaaaacctttagcaaaaatt	11	4	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:195449G>T	uc003wot.2	+	6	890	c.602G>T	c.(601-603)GGG>GTG	p.G201V	ZNF596_uc003wou.2_Missense_Mutation_p.G100V|ZNF596_uc003wov.2_Missense_Mutation_p.G201V|ZNF596_uc003wow.2_Missense_Mutation_p.G201V	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	201	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		CGTGTGTGTGGGAAAACCTTT	0.413													T	195449	G	T	195449	3	4	80	1	0	0	0	0	1	0	0	0	18023	1232	43	5	620	5	ZNF596	8	195449	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08		195449	146168573	457	54399											
MCPH1	79648	broad.mit.edu	37	chr8	6299603	6299603	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttagcttcccaaatgattcAgcagtctcatgataatccaa	5	10	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:6299603A>G	uc003wqi.2	+	7	664	c.596A>G	c.(595-597)CAG>CGG	p.Q199R	MCPH1_uc003wqh.2_Missense_Mutation_p.Q199R|MCPH1_uc011kwl.1_Missense_Mutation_p.Q151R	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	199						microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CAAATGATTCAGCAGTCTCAT	0.373													G	6299603	A	G	6299603	3	3	80	1	0	0	0	0	1	0	0	0	9398	188	7	3	622	3	MCPH1	8	6299603	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	6104154	6299603	140064419	458	54400											
XKR6	286046	broad.mit.edu	37	chr8	11058241	11058241	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cggcccccatcatgggggggCcccggctggtgagcccctcc	15	18	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:11058241C>G	uc003wtk.1	-	1	635	c.608G>C	c.(607-609)GGC>GCC	p.G203A		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	203						integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CATGGGGGGGCCCCGGCTGGT	0.766													G	11058241	C	G	11058241	3	3	80	1	0	0	0	0	1	0	0	0	17432	739	26	5	1329	5	XKR6	8	11058241	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	4758638	11058241	135305781	459	54401											
FAM167A	83648	broad.mit.edu	37	chr8	11301796	11301796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccaggtaggagggcctgCgggtctccagcctcagtttc	13	12	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:11301796C>T	uc010lry.1	-	2	745	c.125G>A	c.(124-126)CGC>CAC	p.R42H	FAM167A_uc003wtw.2_Missense_Mutation_p.R42H	NM_053279	NP_444509	Q96KS9	F167A_HUMAN	hypothetical protein LOC83648	42											0						GGAGGGCCTGCGGGTCTCCAG	0.682													T	11301796	C	T	11301796	3	4	80	1	0	0	0	0	1	0	0	0	5483	768	27	1	527	1	FAM167A	8	11301796	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	243555	11301796	135062226	460	54402											
DLC1	10395	broad.mit.edu	37	chr8	12957359	12957359	+	Frame_Shift_Del	DEL	G	G	-													acagagccgttattccccgaGggggagaaactgccattggt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:12957358_12957358AG>A	uc003wwm.2	-	8	2932	c.2488_2488CT>T	c.(2488-2490)tcgfs	p.S830fs	DLC1_uc003wwk.1_Frame_Shift_Del_p.S393fs|DLC1_uc003wwl.1_Frame_Shift_Del_p.S427fs|DLC1_uc011kxx.1_Frame_Shift_Del_p.S319fs	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	830					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTATTCCCCGAGGGGGAGAAA	0.577													-	12957359	G	-	12957359	7	5	80	1	0	1	0	1	0	0	0	0	4550	987	35	0	2139	0	DLC1	8	12957359	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	1655563	12957359	133406663	461	54403											
PCM1	5108	broad.mit.edu	37	chr8	17824624	17824624	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttcagctttccaacacaGcctgtaaatctcttcaatat	3	13	3	0	rs34135535		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:17824624G>A	uc003wyi.3	+	21	3779	c.3357G>A	c.(3355-3357)CAG>CAA	p.Q1119Q	PCM1_uc011kyh.1_Silent_p.Q1119Q|PCM1_uc003wyj.3_Silent_p.Q1120Q	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	1119					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)		TTCCAACACAGCCTGTAAATC	0.393			T	RET|JAK2	papillary thyroid|CML|MPD								A	17824624	G	A	17824624	2	1	80	1	0	0	0	0	0	0	0	1	11584	962	34	2		2	PCM1	8	17824624	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	4867265	17824624	128539398	462	54404											
EPB49	2039	broad.mit.edu	37	chr8	21938939	21938939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagctggctctgtggaagCggaatgagctcaagaagaag	15	7	2	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:21938939C>T	uc011kyt.1	+	15	1412	c.1183C>T	c.(1183-1185)CGG>TGG	p.R395W	EPB49_uc010ltl.2_Missense_Mutation_p.R373W|EPB49_uc010ltn.2_Missense_Mutation_p.R348W|EPB49_uc011kyu.1_Missense_Mutation_p.R395W|EPB49_uc011kyv.1_Missense_Mutation_p.R395W|EPB49_uc010ltq.2_Missense_Mutation_p.R373W	NM_001114136	NP_001107608	Q08495	DEMA_HUMAN	erythrocyte membrane protein band 4.9 isoform 1	395	HP.				actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)	1				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		TCTGTGGAAGCGGAATGAGCT	0.597													T	21938939	C	T	21938939	3	4	80	1	0	0	0	0	1	0	0	0	5159	759	27	1	1244	1	EPB49	8	21938939	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	4114315	21938939	124425083	463	54405											
BMP1	649	broad.mit.edu	37	chr8	22054887	22054887	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcgcgtggagttcaagtcCgacaacaccgtgtccaaaaa	10	11	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:22054887C>T	uc003xbg.2	+	15	2305	c.2061C>T	c.(2059-2061)TCC>TCT	p.S687S	BMP1_uc003xba.2_Silent_p.S687S|BMP1_uc003xbb.2_Silent_p.S687S|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Silent_p.S436S|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Silent_p.S436S|BMP1_uc011kzc.1_Silent_p.S436S|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	687	CUB 3.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGTTCAAGTCCGACAACACCG	0.567													T	22054887	C	T	22054887	2	4	80	1	0	0	0	0	0	0	0	1	1456	639	23	1		1	BMP1	8	22054887	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	115948	22054887	124309135	464	54406											
BMP1	649	broad.mit.edu	37	chr8	22067038	22067038	+	Frame_Shift_Del	DEL	G	G	-													ttggcgacaacaactaccctGggggtgtggactgtgagtgg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:22067037_22067037TG>T	uc003xbg.3	+	18	2921	c.2655_2655TG>T	c.(2653-2655)cctfs	p.P885fs	BMP1_uc011kzc.2_Frame_Shift_Del_p.P634fs|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	885	CUB 5.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACAACTACCCTGGGGGTGTGG	0.622													-	22067038	G	-	22067038	7	5	80	1	0	1	0	1	0	0	0	0	1456	1348	47	0	2820	0	BMP1	8	22067038	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	12151	22067038	124296984	465	54407											
PIWIL2	55124	broad.mit.edu	37	chr8	22175773	22175773	+	Frame_Shift_Del	DEL	A	A	-													ctatgcctcgtgggctccttAaaaaagttttatgaggtgag							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:22175772_22175772TA>T	uc003xbn.2	+	19	2535	c.2387_2387TA>T	c.(2386-2388)ttafs	p.L796fs	PIWIL2_uc011kzf.1_Frame_Shift_Del_p.L796fs|PIWIL2_uc010ltv.2_Frame_Shift_Del_p.L796fs	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	796	Piwi.				DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GTGGGCTCCTTAAAAAAGTTT	0.458													-	22175773	A	-	22175773	7	5	80	1	0	1	0	1	0	0	0	0	11958	359	13	0	2462	0	PIWIL2	8	22175773	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	108735	22175773	124188249	466	54408											
NEFM	4741	broad.mit.edu	37	chr8	24771385	24771385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgctcgagcttcagccgcGtcagcggctccccgtccagt	11	19	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:24771385G>A	uc003xed.3	+	1	112	c.79G>A	c.(79-81)GTC>ATC	p.V27I	NEFM_uc011lac.1_Missense_Mutation_p.V27I|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	27	Head.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTTCAGCCGCGTCAGCGGCTC	0.692													A	24771385	G	A	24771385	3	1	80	1	0	0	0	0	1	0	0	0	10316	1145	40	1	81	1	NEFM	8	24771385	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2595612	24771385	121592637	467	54409											
STMN4	81551	broad.mit.edu	37	chr8	27097502	27097502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaccttctcttgcagccGttccaacatggcggcgaggt	10	15	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:27097502G>A	uc003xfk.2	-	5	610	c.496C>T	c.(496-498)CGG>TGG	p.R166W	STMN4_uc003xfj.2_Missense_Mutation_p.R193W|STMN4_uc011lai.1_Missense_Mutation_p.R193W|STMN4_uc011laj.1_Missense_Mutation_p.R157W|STMN4_uc011lak.1_Missense_Mutation_p.R193W|STMN4_uc010luo.2_Missense_Mutation_p.R166W			Q9H169	STMN4_HUMAN	RecName: Full=Stathmin-4; AltName: Full=Stathmin-like protein B3;          Short=RB3;	166	Potential.				intracellular signal transduction					large_intestine(1)|pancreas(1)	2		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		TCTTGCAGCCGTTCCAACATG	0.532													A	27097502	G	A	27097502	3	1	80	1	0	0	0	0	1	0	0	0	15310	1144	40	1	81	1	STMN4	8	27097502	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2326117	27097502	119266520	468	54410											
CHRNA2	1135	broad.mit.edu	37	chr8	27320682	27320682	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagagggggccacatgaccTgcacatgcccatctgtcctc	10	15	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:27320682T>C	uc010lur.2	-	6	1887	c.1278A>G	c.(1276-1278)GCA>GCG	p.A426A	CHRNA2_uc011lal.1_Silent_p.A411A|CHRNA2_uc010lus.2_Silent_p.A228A	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	426	Cytoplasmic.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	CCACATGACCTGCACATGCCC	0.647													C	27320682	T	C	27320682	2	2	80	1	0	0	0	0	0	0	0	1	3383	1567	55	3		3	CHRNA2	8	27320682	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	223180	27320682	119043340	469	54411											
FZD3	7976	broad.mit.edu	37	chr8	28385159	28385160	+	Frame_Shift_Ins	INS	-	-	T													tgctttttatgatactctatINSttttttactatggctggcag							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:28385158_28385159A>AT	uc003xgx.3	+	4	1410_1411	c.881_882A>AT	c.(880-882)tatfs	p.Y294fs	FZD3_uc010lvb.3_Frame_Shift_Ins_p.Y294fs	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN	Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.	294					G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		ATGATACTCTATTTTTTTACTA	0.421													T	28385160	-	T	28385159	7	5	80	1	0	1	1	0	0	0	0	0	6131	1500	52	0	892	0	FZD3	8	28385159	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	1064477	28385159	117978863	470	54412											
KIF13B	23303	broad.mit.edu	37	chr8	28967542	28967542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgggttttcaacattggCtgccattcttgctaatgctt	9	9	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:28967542C>T	uc003xhh.3	-	33	4035	c.3976G>A	c.(3976-3978)GCC>ACC	p.A1326T	uc003xhi.1_5'Flank	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1326					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TCAACATTGGCTGCCATTCTT	0.428													T	28967542	C	T	28967542	3	4	80	1	0	0	0	0	1	0	0	0	8275	797	28	2	1536	2	KIF13B	8	28967542	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	582383	28967542	117396480	471	54413											
GTF2E2	2961	broad.mit.edu	37	chr8	30511088	30511088	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agctcgttttttgaacagctCcctttctctcaacaggcttg	7	12	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:30511088C>A	uc003xig.2	-	2	281	c.28G>T	c.(28-30)GAG>TAG	p.E10*		NM_002095	NP_002086	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2,	10					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TTGAACAGCTCCCTTTCTCTC	0.378													A	30511088	C	A	30511088	4	1	80	1	0	0	0	0	0	1	0	0	6857	864	30	5	875	5	GTF2E2	8	30511088	Nonsense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1543546	30511088	115852934	472	54414											
PURG	29942	broad.mit.edu	37	chr8	30889510	30889510	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccactctgaaagaagtcccCtctgggagttcaagcgggtc	11	12	3	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:30889510C>T	uc003xin.2	-	1	808	c.789G>A	c.(787-789)GAG>GAA	p.E263E	WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Silent_p.E263E	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G isoform A	263	By similarity.					nucleus	DNA binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		AAGAAGTCCCCTCTGGGAGTT	0.453													T	30889510	C	T	30889510	2	4	80	1	0	0	0	0	0	0	0	1	12829	680	24	4		4	PURG	8	30889510	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	378422	30889510	115474512	473	54415											
NRG1	3084	broad.mit.edu	37	chr8	32613965	32613965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcttcggcagagccttcGgtctgaacgaaacaatatga	10	11	2	3	rs145033301		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:32613965G>A	uc003xiv.2	+	9	1365	c.848G>A	c.(847-849)CGG>CAG	p.R283Q	NRG1_uc011lbf.1_Missense_Mutation_p.R280Q|NRG1_uc010lvo.2_Missense_Mutation_p.R280Q|NRG1_uc003xiu.2_Missense_Mutation_p.R288Q|NRG1_uc003xiw.2_Missense_Mutation_p.R280Q|NRG1_uc003xit.2_Missense_Mutation_p.R283Q|NRG1_uc010lvr.2_Missense_Mutation_p.R25Q|NRG1_uc010lvs.2_Missense_Mutation_p.R25Q|NRG1_uc010lvp.2_Missense_Mutation_p.R237Q|NRG1_uc010lvq.2_Missense_Mutation_p.R220Q|NRG1_uc011lbg.1_Missense_Mutation_p.R129Q|NRG1_uc011lbh.1_Missense_Mutation_p.R126Q|NRG1_uc003xja.2_Missense_Mutation_p.R94Q	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	283	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CAGAGCCTTCGGTCTGAACGA	0.453													A	32613965	G	A	32613965	3	1	80	1	0	0	0	0	1	0	0	0	10647	1116	39	1	2478	1	NRG1	8	32613965	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1724455	32613965	113750057	474	54416											
UNC5D	137970	broad.mit.edu	37	chr8	35425752	35425752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggaaggcctctgtgcgCatagcctgtaagtacattct	11	10	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:35425752C>T	uc003xjr.1	+	3	787	c.459C>T	c.(457-459)CGC>CGT	p.R153R	UNC5D_uc003xjs.1_Silent_p.R148R	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	153	Extracellular (Potential).|Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCTCTGTGCGCATAGCCTGTA	0.522													T	35425752	C	T	35425752	2	4	80	1	0	0	0	0	0	0	0	1	16992	697	25	2		2	UNC5D	8	35425752	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2811787	35425752	110938270	475	54417											
DDHD2	23259	broad.mit.edu	37	chr8	38111155	38111155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctgaatggaggccaacGcattgactatgtgctacagg	13	8	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:38111155G>A	uc003xlb.2	+	16	2350	c.1973G>A	c.(1972-1974)CGC>CAC	p.R658H	DDHD2_uc003xlc.2_Missense_Mutation_p.R658H|DDHD2_uc003xld.2_Missense_Mutation_p.R277H	NM_015214	NP_056029	O94830	DDHD2_HUMAN	DDHD domain containing 2 isoform 1	658	DDHD.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding			large_intestine(1)|ovary(1)	2	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GGAGGCCAACGCATTGACTAT	0.388													A	38111155	G	A	38111155	3	1	80	1	0	0	0	0	1	0	0	0	4327	1087	38	1	2093	1	DDHD2	8	38111155	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2685403	38111155	108252867	476	54418											
PPAPDC1B	84513	broad.mit.edu	37	chr8	38123659	38123659	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcctgagtactttgcttacCttgccagtgatgcttgtagt	10	9	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:38123659C>A	uc003xlf.3	-	6	655	c.634G>T	c.(634-636)GAT>TAT	p.D212Y	PPAPDC1B_uc003xle.3_Missense_Mutation_p.D171Y|PPAPDC1B_uc003xlg.3_Nonsense_Mutation_p.G212*	NM_001102559	NP_001096029	Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain	212	Helical; (Potential).				phospholipid dephosphorylation	cytoplasm|integral to membrane|plasma membrane	phosphatidate phosphatase activity				0	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			CTTTGCTTACCTTGCCAGTGA	0.323													A	38123659	C	A	38123659	3	1	80	1	0	0	0	0	1	0	0	0	12294	695	24	5	189	5	PPAPDC1B	8	38123659	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	12504	38123659	108240363	477	54419											
WHSC1L1	54904	broad.mit.edu	37	chr8	38187222	38187223	+	Frame_Shift_Ins	INS	-	-	T													acagatcttggtcgtcgggtINSttttttaacttcggttttgg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:38187221_38187222G>GT	uc003xli.3	-	5	1773_1774	c.1255_1256C>AC	c.(1255-1257)accfs	p.T419fs	WHSC1L1_uc011lbm.2_Frame_Shift_Ins_p.T419fs|WHSC1L1_uc010lwe.3_Frame_Shift_Ins_p.T419fs|WHSC1L1_uc003xlj.3_Frame_Shift_Ins_p.T419fs	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	419					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGGTCGTCGGGTTTTTTTAACT	0.431			T	NUP98	AML								T	38187223	-	T	38187222	7	5	80	1	0	1	1	0	0	0	0	0	17360	1725	60	0	3221	0	WHSC1L1	8	38187222	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	63563	38187222	108176800	478	54420											
HTRA4	203100	broad.mit.edu	37	chr8	38835654	38835654	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggactacgtccagattgaTgccacaattaatgtaagtca	8	8	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:38835654T>C	uc003xmj.2	+	4	1069	c.954T>C	c.(952-954)GAT>GAC	p.D318D		NM_153692	NP_710159	P83105	HTRA4_HUMAN	HtrA serine peptidase 4 precursor	318	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			TCCAGATTGATGCCACAATTA	0.299													C	38835654	T	C	38835654	2	2	80	1	0	0	0	0	0	0	0	1	7456	1461	51	3		3	HTRA4	8	38835654	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	648432	38835654	107528368	479	54421											
TM2D2	83877	broad.mit.edu	37	chr8	38853837	38853837	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcggatgtgagctcaggcTcagcggtcgcattttgcgag	15	10	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:38853837T>G	uc003xmk.2	-	1	205	c.122A>C	c.(121-123)GAG>GCG	p.E41A	ADAM9_uc011lcf.1_5'Flank|ADAM9_uc003xmr.2_5'Flank|ADAM9_uc011lcg.1_5'Flank|ADAM9_uc010lwr.2_5'Flank|TM2D2_uc003xml.2_5'UTR|TM2D2_uc003xmm.2_Intron|TM2D2_uc003xmn.2_Intron|ADAM9_uc003xmo.1_5'Flank|ADAM9_uc003xmp.2_5'Flank	NM_078473	NP_510882	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2 isoform a	41						integral to membrane					0		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GAGCTCAGGCTCAGCGGTCGC	0.622													G	38853837	T	G	38853837	3	3	80	1	0	0	0	0	1	0	0	0	15961	1551	54	5	636	5	TM2D2	8	38853837	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	18183	38853837	107510185	480	54422											
ADAM9	8754	broad.mit.edu	37	chr8	38961220	38961220	+	Frame_Shift_Del	DEL	T	T	-													tatatagttccctcacttgaTttttttaaccttctttttgc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:38961219_38961219AT>A	uc003xmr.3	+	21	2538	c.2460_2460AT>A	c.(2458-2460)tgafs	p.*820fs	ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA.	0					PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CCCTCACTTGATTTTTTTAAC	0.408													-	38961220	T	-	38961220	7	5	80	1	0	1	0	1	0	0	0	0	253	1508	52	0	2547	0	ADAM9	8	38961220	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	107383	38961220	107402802	481	54423											
ANK1	286	broad.mit.edu	37	chr8	41551521	41551521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccgaagcccaatggggcGgtggaacttccggcgccggg	17	12	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:41551521G>A	uc003xok.2	-	29	3511	c.3427C>T	c.(3427-3429)CGC>TGC	p.R1143C	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.R459C|ANK1_uc003xoi.2_Missense_Mutation_p.R1143C|ANK1_uc003xoj.2_Missense_Mutation_p.R1143C|ANK1_uc003xol.2_Missense_Mutation_p.R1143C|ANK1_uc003xom.2_Missense_Mutation_p.R1184C	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1143					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCAATGGGGCGGTGGAACTTC	0.657													A	41551521	G	A	41551521	3	1	80	1	0	0	0	0	1	0	0	0	620	1116	39	1	2600	1	ANK1	8	41551521	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2590301	41551521	104812501	482	54424											
ANK1	286	broad.mit.edu	37	chr8	41583411	41583411	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgtagttgatgaggtgcgcGacgacgttctcatggccctg	14	11	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:41583411G>A	uc003xok.2	-	6	564	c.480C>T	c.(478-480)GTC>GTT	p.V160V	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.V160V|ANK1_uc003xoj.2_Silent_p.V160V|ANK1_uc003xol.2_Silent_p.V160V|ANK1_uc003xom.2_Silent_p.V193V	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	160	ANK 4.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGAGGTGCGCGACGACGTTCT	0.667													A	41583411	G	A	41583411	2	1	80	1	0	0	0	0	0	0	0	1	620	1045	37	1		1	ANK1	8	41583411	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	31890	41583411	104780611	483	54425											
CHRNB3	1142	broad.mit.edu	37	chr8	42587571	42587572	+	Frame_Shift_Ins	INS	-	-	A													gtgaaaggcaaagtcctcgaINSaaaaaagaaacagaaacagc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:42587570_42587571G>GA	uc003xpi.1	+	4	1248_1249	c.1120_1121G>GA	c.(1120-1122)gaafs	p.E374fs		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	374					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CAAAGTCCTCGAAAAAAAGAAA	0.391													A	42587572	-	A	42587571	7	5	80	1	0	1	1	0	0	0	0	0	3392	246	9	0	1139	0	CHRNB3	8	42587571	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	1004160	42587571	103776451	484	54426											
KIAA0146	23514	broad.mit.edu	37	chr8	48511719	48511720	+	Frame_Shift_Ins	INS	-	-	G													gacagcaccaggggtcagcaINSgggggccagctcaggacaca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:48511719_48511720insG	uc003xqd.2	+	10	1514_1515	c.1505_1506insG	c.(1504-1506)CAGfs	p.Q502fs	KIAA0146_uc011lda.1_Frame_Shift_Ins_p.Q191fs|KIAA0146_uc011ldb.1_Frame_Shift_Ins_p.Q502fs|KIAA0146_uc010lxs.2_Intron|KIAA0146_uc011ldc.1_Frame_Shift_Ins_p.Q432fs|KIAA0146_uc011ldd.1_Frame_Shift_Ins_p.Q442fs|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Frame_Shift_Ins_p.Q191fs|KIAA0146_uc010lxt.2_Frame_Shift_Ins_p.Q191fs	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	502											0		Lung NSC(58;0.175)				AGGGGTCAGCAGGGGGCCAGCT	0.594													G	48511720	-	G	48511719	7	5	80	1	0	1	1	0	0	0	0	0	8157	188	7	0	1543	0	KIAA0146	8	48511719	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	5924148	48511719	97852303	485	54427	224	2									
KIAA0146	23514	broad.mit.edu	37	chr8	48511720	48511721	+	Frame_Shift_Ins	INS	-	-	G													acagcaccaggggtcagcagINSggggccagctcaggacacac							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:48511719_48511720A>AG	uc003xqd.3	+	9	1567_1568	c.1505_1506A>AG	c.(1504-1506)cagfs	p.Q502fs	KIAA0146_uc011lda.2_Frame_Shift_Ins_p.Q191fs|KIAA0146_uc011ldb.2_Frame_Shift_Ins_p.Q502fs|KIAA0146_uc010lxs.3_Intron|KIAA0146_uc011ldc.2_Frame_Shift_Ins_p.Q432fs|KIAA0146_uc011ldd.2_Frame_Shift_Ins_p.Q442fs|KIAA0146_uc003xqe.3_Intron|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_Frame_Shift_Ins_p.Q191fs|KIAA0146_uc010lxt.3_Frame_Shift_Ins_p.Q191fs	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	502										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				AGGGGTCAGCAGGGGGCCAGCT	0.594													G	48511721	-	G	48511720	7	5	80	1	0	1	1	0	0	0	0	0	8157	991	35	0	1544	0	KIAA0146	8	48511720	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	1	48511720	97852302	486	54428	224	2									
PXDNL	137902	broad.mit.edu	37	chr8	52321634	52321634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgggtgccccgggggtcGgcgtgccgggtgttcatggg	22	10	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:52321634G>A	uc003xqu.3	-	17	2651	c.2550C>T	c.(2548-2550)GCC>GCT	p.A850A	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	850					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCCGGGGGTCGGCGTGCCGGG	0.697													A	52321634	G	A	52321634	2	1	80	1	0	0	0	0	0	0	0	1	12848	1103	39	1		1	PXDNL	8	52321634	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	3809914	52321634	94042388	487	54429											
PXDNL	137902	broad.mit.edu	37	chr8	52325815	52325815	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccagcttgtctaccctgtAtagctttgaaaatcaattcc	6	12	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:52325815A>G	uc003xqu.3	-	15	1900	c.1799T>C	c.(1798-1800)ATA>ACA	p.I600T		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	600					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCTACCCTGTATAGCTTTGAA	0.343													G	52325815	A	G	52325815	3	3	80	1	0	0	0	0	1	0	0	0	12848	449	16	3	2628	3	PXDNL	8	52325815	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	4181	52325815	94038207	488	54430											
NPBWR1	2831	broad.mit.edu	37	chr8	53853444	53853444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctgataacttgccgcgCggcagcctgactcccccagc	10	18	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:53853444C>T	uc011ldu.1	+	1	977	c.977C>T	c.(976-978)GCG>GTG	p.A326V		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	326	Cytoplasmic (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				ACTTGCCGCGCGGCAGCCTGA	0.692													T	53853444	C	T	53853444	3	4	80	1	0	0	0	0	1	0	0	0	10568	768	27	1	979	1	NPBWR1	8	53853444	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1527629	53853444	92510578	489	54431											
MOS	4342	broad.mit.edu	37	chr8	57025712	57025712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgctcccccgaatacggcGcctgcttggtagtcatttgc	11	15	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:57025712G>A	uc011leb.1	-	1	830	c.830C>T	c.(829-831)GCG>GTG	p.A277V		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	277	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			CGAATACGGCGCCTGCTTGGT	0.637													A	57025712	G	A	57025712	3	1	80	1	0	0	0	0	1	0	0	0	9712	1087	38	1	213	1	MOS	8	57025712	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	3172268	57025712	89338310	490	54432											
PLAG1	5324	broad.mit.edu	37	chr8	57079754	57079754	+	Frame_Shift_Del	DEL	T	T	-													cacaatgttcgcactggtgcTttttttctttaaccccacca					rs141930943		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:57079753_57079753CT>C	uc003xsq.4	-	2	1003	c.552_552AG>G	c.(550-552)aagfs	p.K184fs	PLAG1_uc003xsr.4_Frame_Shift_Del_p.K184fs|PLAG1_uc010lyi.3_Frame_Shift_Del_p.K184fs|PLAG1_uc010lyj.3_Frame_Shift_Del_p.K102fs|PLAG1_uc022aur.1_Frame_Shift_Del_p.K102fs	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	184	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CGCACTGGTGCTTTTTTTCTT	0.483			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma								-	57079754	T	-	57079754	7	5	80	1	0	1	0	1	0	0	0	0	12018	1609	56	0	955	0	PLAG1	8	57079754	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	54042	57079754	89284268	491	54433											
CHD7	55636	broad.mit.edu	37	chr8	61769043	61769043	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccctcgccagcggaggAggaggaggagaaaaatcgaa	15	9	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:61769043A>C	uc003xue.2	+	34	7681	c.7204A>C	c.(7204-7206)AGG>CGG	p.R2402R		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2402	Potential.|Poly-Arg.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCAGCGGAGGAGGAGGAGGAG	0.507													C	61769043	A	C	61769043	2	2	80	1	0	0	0	0	0	0	0	1	3330	295	11	5		5	CHD7	8	61769043	Silent	SNP	A	TCGA-BR-8368-01A-11D-2340-08	4689289	61769043	84594979	492	54434											
ARFGEF1	10565	broad.mit.edu	37	chr8	68128856	68128857	+	Frame_Shift_Ins	INS	-	-	G													acttacaggagatggaggtgINSggggggcagtttctccagaa					rs142098461		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:68128855_68128856T>TG	uc003xxo.2	-	32	5045_5046	c.4655_4656A>CA	c.(4654-4656)ccafs	p.P1552fs	ARFGEF1_uc003xxl.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_uc003xxn.2_Frame_Shift_Ins_p.P535fs	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421													G	68128857	-	G	68128856	7	5	80	1	0	1	1	0	0	0	0	0	852	1348	47	0	922	0	ARFGEF1	8	68128856	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	6359813	68128856	78235166	493	54435											
PRDM14	63978	broad.mit.edu	37	chr8	70982108	70982108	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagccatcccgggaccgcaCgctcggcggctctgcagaaa	13	15	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:70982108C>T	uc003xym.2	-	2	190	c.-12G>A	c.(-14--10)GCGTG>GCATG			NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CGGGACCGCACGCTCGGCGGC	0.726													T	70982108	C	T	70982108	1	4	80	1	0	0	0	0	0	0	0	0	12455	551	19	1		1	PRDM14	8	70982108	Translation_Start_Site	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2853252	70982108	75381914	494	54436											
EYA1	2138	broad.mit.edu	37	chr8	72211325	72211325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctggtgatgccagatggCggttcttgaagctggtaagt	16	6	1	3	rs146648560		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:72211325C>T	uc003xys.3	-	8	1070	c.783G>A	c.(781-783)CCG>CCA	p.P261P	EYA1_uc003xyr.3_Silent_p.P256P|EYA1_uc003xyt.3_Silent_p.P228P|EYA1_uc010lzf.2_Silent_p.P188P|EYA1_uc003xyu.2_Silent_p.P261P|EYA1_uc011lfe.1_Silent_p.P255P|EYA1_uc003xyv.2_Silent_p.P139P	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	261					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGCCAGATGGCGGTTCTTGAA	0.448													T	72211325	C	T	72211325	2	4	80	1	0	0	0	0	0	0	0	1	5328	755	27	1		1	EYA1	8	72211325	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1229217	72211325	74152697	495	54437											
MSC	9242	broad.mit.edu	37	chr8	72756093	72756093	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgttggccgcgttccgctgCgactgcttgcactctgcggc	14	15	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:72756093C>T	uc003xyx.1	-	1	639	c.321G>A	c.(319-321)TCG>TCA	p.S107S	uc011lff.1_Intron|uc003xyy.2_5'Flank	NM_005098	NP_005089	O60682	MUSC_HUMAN	musculin	107					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CGTTCCGCTGCGACTGCTTGC	0.726											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	72756093	C	T	72756093	2	4	80	1	0	0	0	0	0	0	0	1	9868	755	27	1		1	MSC	8	72756093	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	544768	72756093	73607929	496	54438											
KCNB2	9312	broad.mit.edu	37	chr8	73480280	73480280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccattttaaatttctaccGgaccgggaaactccatatga	6	10	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:73480280G>A	uc003xzb.2	+	2	899	c.311G>A	c.(310-312)CGG>CAG	p.R104Q		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	104	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			AATTTCTACCGGACCGGGAAA	0.463													A	73480280	G	A	73480280	3	1	80	1	0	0	0	0	1	0	0	0	8013	1116	39	1	313	1	KCNB2	8	73480280	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	724187	73480280	72883742	497	54439											
KCNB2	9312	broad.mit.edu	37	chr8	73848408	73848408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgtcattgatttgctggCcatcttgccgtactatgtca	9	9	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:73848408C>T	uc003xzb.2	+	3	1406	c.818C>T	c.(817-819)GCC>GTC	p.A273V		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	273	Helical; Name=Segment S3; (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			GATTTGCTGGCCATCTTGCCG	0.458													T	73848408	C	T	73848408	3	4	80	1	0	0	0	0	1	0	0	0	8013	739	26	2	824	2	KCNB2	8	73848408	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	368128	73848408	72515614	498	54440											
ZFHX4	79776	broad.mit.edu	37	chr8	77766976	77766976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaccaacaccgagataaaCgcttgagaaccacgatcacc	7	13	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:77766976C>T	uc003yav.2	+	10	8071	c.7684C>T	c.(7684-7686)CGC>TGC	p.R2562C	ZFHX4_uc003yau.1_Missense_Mutation_p.R2607C|ZFHX4_uc003yaw.1_Missense_Mutation_p.R2562C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2562	Homeobox 3.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCGAGATAAACGCTTGAGAAC	0.423										HNSCC(33;0.089)			T	77766976	C	T	77766976	3	4	80	1	0	0	0	0	1	0	0	0	17632	536	19	1	7853	1	ZFHX4	8	77766976	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3918568	77766976	68597046	499	54441											
FABP9	646480	broad.mit.edu	37	chr8	82371419	82371419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttactttccggttgtctGctgtagtttcatcaaattct	6	10	4	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:82371419G>A	uc011lfo.1	-	2	227	c.227C>T	c.(226-228)GCA>GTA	p.A76V		NM_001080526	NP_001073995	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	76							lipid binding|transporter activity				0			Epithelial(68;0.186)			CCGGTTGTCTGCTGTAGTTTC	0.383													A	82371419	G	A	82371419	3	1	80	1	0	0	0	0	1	0	0	0	5363	1319	46	2	182	2	FABP9	8	82371419	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	4604443	82371419	63992603	500	54442											
CA2	760	broad.mit.edu	37	chr8	86386635	86386635	+	Frame_Shift_Del	DEL	T	T	-													tggactggccgttctaggtaTttttttgaaggttagttgat							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:86386634_86386634AT>A	uc003ydk.2	+	3	613	c.433_433AT>A	c.(433-435)attfs	p.I145fs		NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	145					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CGTTCTAGGTATTTTTTTGAA	0.388													-	86386635	T	-	86386635	7	5	80	1	0	1	0	1	0	0	0	0	2516	1493	52	0	448	0	CA2	8	86386635	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	4015216	86386635	59977387	501	54443											
SLC7A13	157724	broad.mit.edu	37	chr8	87242434	87242434	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattcctgcaccaatgatatTaataagcaaaaaacttgtgc	5	8	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:87242434T>C	uc003ydq.1	-	1	171	c.73A>G	c.(73-75)AAT>GAT	p.N25D	SLC7A13_uc003ydr.1_Missense_Mutation_p.N25D	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	25	Helical; Name=1; (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1						CCAATGATATTAATAAGCAAA	0.423													C	87242434	T	C	87242434	3	2	80	1	0	0	0	0	1	0	0	0	14695	1754	61	3	1355	3	SLC7A13	8	87242434	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	855799	87242434	59121588	502	54444											
OTUD6B	51633	broad.mit.edu	37	chr8	92083383	92083383	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccaaaattcagggcatgAagaatgctgttcccaagaat	9	9	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:92083383A>G	uc003yeu.3	+	2	289	c.190A>G	c.(190-192)AAG>GAG	p.K64E	uc003yet.2_5'Flank|OTUD6B_uc011lgh.1_5'UTR	NM_016023	NP_057107	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	34										ovary(2)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(11;0.0187)			TCAGGGCATGAAGAATGCTGT	0.423													G	92083383	A	G	92083383	3	3	80	1	0	0	0	0	1	0	0	0	11317	247	9	3	196	3	OTUD6B	8	92083383	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	4840949	92083383	54280639	503	54445											
SLC25A32	81034	broad.mit.edu	37	chr8	104414250	104414250	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccataaactgaagggcaccAtgcgatgttccaaacagccc	9	13	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:104414250A>G	uc003yll.2	-	5	888	c.585T>C	c.(583-585)CAT>CAC	p.H195H	SLC25A32_uc011lhr.1_Silent_p.H63H	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	solute carrier family 25, member 32	195	Helical; Name=4; (Potential).|Solcar 2.				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	GAAGGGCACCATGCGATGTTC	0.348													G	104414250	A	G	104414250	2	3	80	1	0	0	0	0	0	0	0	1	14496	214	8	3		3	SLC25A32	8	104414250	Silent	SNP	A	TCGA-BR-8368-01A-11D-2340-08	12330867	104414250	41949772	504	54446											
DPYS	1807	broad.mit.edu	37	chr8	105456608	105456608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctccactgcctctgggcGgcacagctcgtggccctcag	12	17	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:105456608G>A	uc003yly.3	-	4	790	c.661C>T	c.(661-663)CGC>TGC	p.R221C		NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	221					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCCTCTGGGCGGCACAGCTCG	0.542													A	105456608	G	A	105456608	3	1	80	1	0	0	0	0	1	0	0	0	4746	1116	39	1	922	1	DPYS	8	105456608	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1042358	105456608	40907414	505	54447											
OXR1	55074	broad.mit.edu	37	chr8	107695429	107695429	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttttcttttaaacaggtTgaatcaagggattctttgaa	7	4	3	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:107695429T>C	uc011lht.1	+	4	408	c.309T>C	c.(307-309)GTT>GTC	p.V103V	OXR1_uc003ymf.2_Silent_p.V102V|OXR1_uc011lhu.1_Silent_p.V95V|OXR1_uc010mcg.2_Intron|OXR1_uc003ymg.1_Silent_p.V35V|OXR1_uc003ymi.1_Silent_p.V14V	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	103	LysM.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TTAAACAGGTTGAATCAAGGG	0.294													C	107695429	T	C	107695429	2	2	80	1	0	0	0	0	0	0	0	1	11334	1799	63	3		3	OXR1	8	107695429	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	2238821	107695429	38668593	506	54448											
ZHX2	22882	broad.mit.edu	37	chr8	123965245	123965245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcggtgtcaaaggggcatcGtccacatcaccagcgaatcc	10	13	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:123965245G>A	uc003ypk.1	+	3	2062	c.1495G>A	c.(1495-1497)GTC>ATC	p.V499I		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	499	Homeobox 2.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AAGGGGCATCGTCCACATCAC	0.587													A	123965245	G	A	123965245	3	1	80	1	0	0	0	0	1	0	0	0	17673	1145	40	1	1497	1	ZHX2	8	123965245	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	16269816	123965245	22398777	507	54449											
FAM91A1	157769	broad.mit.edu	37	chr8	124812010	124812010	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgttaatttcttttcaatAgagttatgatcgattgctaa	6	6	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:124812010A>G	uc003yqv.2	+	18	1757	c.1696_splice	c.e18-2	p.S566_splice	FAM91A1_uc011lik.1_Splice_Site_p.S566_splice|FAM91A1_uc011lil.1_Splice_Site_p.S324_splice	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769											ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TCTTTTCAATAGAGTTATGAT	0.343													G	124812010	A	G	124812010	5	3	80	1	0	0	0	0	0	0	1	0	5651	434	15	3	1764	3	FAM91A1	8	124812010	Splice_Site	SNP	A	TCGA-BR-8368-01A-11D-2340-08	846765	124812010	21552012	508	54450											
FER1L6	654463	broad.mit.edu	37	chr8	125015462	125015462	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgggagtaagaagtcagcTgaatcagctgaagaagacct	12	7	2	5			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:125015462T>C	uc003yqw.2	+	13	1781	c.1575T>C	c.(1573-1575)GCT>GCC	p.A525A	uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	525	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGAAGTCAGCTGAATCAGCTG	0.527													C	125015462	T	C	125015462	2	2	80	1	0	0	0	0	0	0	0	1	5815	1567	55	3		3	FER1L6	8	125015462	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	203452	125015462	21348560	509	54451											
KCNQ3	3786	broad.mit.edu	37	chr8	133196585	133196585	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatcctcaaagcaaactcGgctccaaagatgaaaatagc	7	11	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:133196585G>A	uc003ytj.2	-	3	732	c.507C>T	c.(505-507)GCC>GCT	p.A169A	KCNQ3_uc010mdt.2_Silent_p.A169A	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	169	Helical; Name=Segment S2; (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AAGCAAACTCGGCTCCAAAGA	0.512													A	133196585	G	A	133196585	2	1	80	1	0	0	0	0	0	0	0	1	8084	1103	39	1		1	KCNQ3	8	133196585	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	8181123	133196585	13167437	510	54452											
WISP1	8840	broad.mit.edu	37	chr8	134225170	134225170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactggaggacacctcctcaCgcccccaattctgcaagtgg	9	16	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:134225170C>T	uc003yub.2	+	2	209	c.133C>T	c.(133-135)CGC>TGC	p.R45C	WISP1_uc003yuc.2_Missense_Mutation_p.R45C|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Missense_Mutation_p.R45C|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_5'Flank	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	45	IGFBP N-terminal.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CACCTCCTCACGCCCCCAATT	0.647													T	134225170	C	T	134225170	3	4	80	1	0	0	0	0	1	0	0	0	17369	536	19	1	139	1	WISP1	8	134225170	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1028585	134225170	12138852	511	54453											
WISP1	8840	broad.mit.edu	37	chr8	134239807	134239807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagtctaagactatcgacGtgtccttccagtgtcctgat	8	11	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:134239807G>A	uc003yub.2	+	5	1034	c.958G>A	c.(958-960)GTG>ATG	p.V320M	WISP1_uc003yuc.2_Missense_Mutation_p.V233M|WISP1_uc010meb.2_Missense_Mutation_p.V148M|WISP1_uc010mec.2_3'UTR|WISP1_uc010med.2_Missense_Mutation_p.V75M|WISP1_uc003yud.2_RNA	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	320	CTCK.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GACTATCGACGTGTCCTTCCA	0.512													A	134239807	G	A	134239807	3	1	80	1	0	0	0	0	1	0	0	0	17369	1145	40	1	976	1	WISP1	8	134239807	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	14637	134239807	12124215	512	54454											
COL22A1	169044	broad.mit.edu	37	chr8	139833454	139833454	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaatgttctcccgttcctcGatgggtagtgtctgcaccag	10	12	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:139833454G>A	uc003yvd.2	-	7	1617	c.1170C>T	c.(1168-1170)ATC>ATT	p.I390I		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	390	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCGTTCCTCGATGGGTAGTG	0.577										HNSCC(7;0.00092)			A	139833454	G	A	139833454	2	1	80	1	0	0	0	0	0	0	0	1	3681	1048	37	1		1	COL22A1	8	139833454	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	5593647	139833454	6530568	513	54455											
KCNK9	51305	broad.mit.edu	37	chr8	140714992	140714992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcgcaaagtagaaggagcCggcgaatttccactggacgc	13	10	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:140714992C>T	uc003yvf.1	-	1	308	c.244G>A	c.(244-246)GGC>AGC	p.G82S	KCNK9_uc003yvg.1_Missense_Mutation_p.G82S	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	82	Extracellular (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TAGAAGGAGCCGGCGAATTTC	0.662													T	140714992	C	T	140714992	3	4	80	1	0	0	0	0	1	0	0	0	8072	652	23	1	888	1	KCNK9	8	140714992	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	881538	140714992	5649030	514	54456											
BAI1	575	broad.mit.edu	37	chr8	143570413	143570413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggccgatgaagcatccGtgtttgtggtgggcaccgtg	16	9	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:143570413G>A	uc003ywm.2	+	14	2653	c.2470G>A	c.(2470-2472)GTG>ATG	p.V824M		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	824	Extracellular (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGAAGCATCCGTGTTTGTGGT	0.672													A	143570413	G	A	143570413	3	1	80	1	0	0	0	0	1	0	0	0	1298	1145	40	1	2524	1	BAI1	8	143570413	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2855421	143570413	2793609	515	54457											
SCRIB	23513	broad.mit.edu	37	chr8	144887368	144887368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcgtgccaggcaggccaCgtggcgctgacggaggggcc	19	13	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:144887368C>T	uc003yzp.1	-	19	2591	c.2584G>A	c.(2584-2586)GTG>ATG	p.V862M	SCRIB_uc003yzn.1_5'Flank|SCRIB_uc003yzo.1_Missense_Mutation_p.V862M	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	862	PDZ 2.|Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGGCAGGCCACGTGGCGCTGA	0.731													T	144887368	C	T	144887368	3	4	80	1	0	0	0	0	1	0	0	0	13937	536	19	1	2459	1	SCRIB	8	144887368	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1316955	144887368	1476654	516	54458											
EPPK1	83481	broad.mit.edu	37	chr8	144946750	144946750	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggcagcaaggctagcccCgagccgggggcacgcacaca	16	14	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:144946750C>T	uc003zaa.1	-	1	685	c.672G>A	c.(670-672)TCG>TCA	p.S224S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	224	Plectin 5.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGCTAGCCCCGAGCCGGGGG	0.662													T	144946750	C	T	144946750	2	4	80	1	0	0	0	0	0	0	0	1	5190	639	23	1		1	EPPK1	8	144946750	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	59382	144946750	1417272	517	54459											
PLEC	5339	broad.mit.edu	37	chr8	144990725	144990725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgtcacgcagcttctgtgCggtgcgggcgtccaccgtgc	14	15	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:144990725C>T	uc003zaf.1	-	32	13845	c.13675G>A	c.(13675-13677)GCA>ACA	p.A4559T	PLEC_uc003zab.1_Missense_Mutation_p.A4422T|PLEC_uc003zac.1_Missense_Mutation_p.A4426T|PLEC_uc003zad.2_Missense_Mutation_p.A4422T|PLEC_uc003zae.1_Missense_Mutation_p.A4390T|PLEC_uc003zag.1_Missense_Mutation_p.A4400T|PLEC_uc003zah.2_Missense_Mutation_p.A4408T|PLEC_uc003zaj.2_Missense_Mutation_p.A4449T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4559	Plectin 32.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						AGCTTCTGTGCGGTGCGGGCG	0.672													T	144990725	C	T	144990725	3	4	80	1	0	0	0	0	1	0	0	0	12052	768	27	1	383	1	PLEC	8	144990725	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	43975	144990725	1373297	518	54460											
PLEC	5339	broad.mit.edu	37	chr8	144991258	144991258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccgaggaggaacgggagCggaaaccaccggcgttgccc	15	14	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:144991258C>T	uc003zaf.1	-	32	13312	c.13142G>A	c.(13141-13143)CGC>CAC	p.R4381H	PLEC_uc003zab.1_Missense_Mutation_p.R4244H|PLEC_uc003zac.1_Missense_Mutation_p.R4248H|PLEC_uc003zad.2_Missense_Mutation_p.R4244H|PLEC_uc003zae.1_Missense_Mutation_p.R4212H|PLEC_uc003zag.1_Missense_Mutation_p.R4222H|PLEC_uc003zah.2_Missense_Mutation_p.R4230H|PLEC_uc003zaj.2_Missense_Mutation_p.R4271H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4381	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GGAACGGGAGCGGAAACCACC	0.667													T	144991258	C	T	144991258	3	4	80	1	0	0	0	0	1	0	0	0	12052	768	27	1	916	1	PLEC	8	144991258	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	533	144991258	1372764	519	54461											
PLEC	5339	broad.mit.edu	37	chr8	145003355	145003355	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgagcgcagcgtgggggccGcaggcgatggctctggtagg	20	11	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:145003355G>T	uc003zaf.1	-	25	3757	c.3587C>A	c.(3586-3588)GCG>GAG	p.A1196E	PLEC_uc003zab.1_Missense_Mutation_p.A1059E|PLEC_uc003zac.1_Missense_Mutation_p.A1063E|PLEC_uc003zad.2_Missense_Mutation_p.A1059E|PLEC_uc003zae.1_Missense_Mutation_p.A1027E|PLEC_uc003zag.1_Missense_Mutation_p.A1037E|PLEC_uc003zah.2_Missense_Mutation_p.A1045E|PLEC_uc003zaj.2_Missense_Mutation_p.A1086E	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1196	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CGTGGGGGCCGCAGGCGATGG	0.682													T	145003355	G	T	145003355	3	4	80	1	0	0	0	0	1	0	0	0	12052	1087	38	5	10499	5	PLEC	8	145003355	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	12097	145003355	1360667	520	54462											
PLEC	5339	broad.mit.edu	37	chr8	145011331	145011331	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agggcctgccgggcagccttAcctggcggtgccggaggtag	18	12	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:145011331A>T	uc003zaf.1	-	4	923	c.753_splice	c.e4+1	p.Q251_splice	PLEC_uc003zab.1_Splice_Site_p.Q114_splice|PLEC_uc003zac.1_Splice_Site_p.Q118_splice|PLEC_uc003zad.2_Splice_Site_p.Q114_splice|PLEC_uc003zae.1_Splice_Site_p.Q82_splice|PLEC_uc003zag.1_Splice_Site_p.Q92_splice|PLEC_uc003zah.2_Splice_Site_p.Q100_splice|PLEC_uc003zaj.2_Splice_Site_p.Q141_splice	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1						cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GGGCAGCCTTACCTGGCGGTG	0.682													T	145011331	A	T	145011331	5	4	80	1	0	0	0	0	0	0	1	0	12052	405	14	5	13415	5	PLEC	8	145011331	Splice_Site	SNP	A	TCGA-BR-8368-01A-11D-2340-08	7976	145011331	1352691	521	54463											
SPATC1	375686	broad.mit.edu	37	chr8	145095784	145095785	+	Frame_Shift_Ins	INS	-	-	C													acccacatcgcccagggtgcINScccccatcccccttcccgaa							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:145095783_145095784G>GC	uc011lkw.2	+	2	1183_1184	c.1081_1082G>GC	c.(1081-1083)gccfs	p.A361fs	SPATC1_uc011lkx.2_Frame_Shift_Ins_p.A361fs	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	361										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCCCAGGGTGCCCCCCATCCC	0.658													C	145095785	-	C	145095784	7	5	80	1	0	1	1	0	0	0	0	0	15016	739	26	0	1092	0	SPATC1	8	145095784	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	84453	145095784	1268238	522	54464											
OPLAH	26873	broad.mit.edu	37	chr8	145109542	145109543	+	Frame_Shift_Ins	INS	-	-	G													tgttgcagcatggtggagtgINSggggggcatggagcctggtg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:145109541_145109542T>TG	uc003zar.3	-	18	2690_2691	c.2608_2609A>CA	c.(2608-2610)cacfs	p.H870fs	OPLAH_uc003zas.1_Frame_Shift_Ins_p.P144fs	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	870							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CATGGTGGAGTGGGGGGGCATG	0.639													G	145109543	-	G	145109542	7	5	80	1	0	1	1	0	0	0	0	0	10876	1348	47	0	1296	0	OPLAH	8	145109542	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	13758	145109542	1254480	523	54465											
GPAA1	8733	broad.mit.edu	37	chr8	145139999	145139999	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgggccttgaggagccCgggggtgcccctggccccag	18	13	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:145139999C>T	uc003zax.2	+	9	1328	c.1218C>T	c.(1216-1218)CCC>CCT	p.P406P		NM_003801	NP_003792	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment	406	Cytoplasmic (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTGAGGAGCCCGGGGGTGCCC	0.597													T	145139999	C	T	145139999	2	4	80	1	0	0	0	0	0	0	0	1	6587	639	23	1		1	GPAA1	8	145139999	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	30457	145139999	1224023	524	54466											
CYC1	1537	broad.mit.edu	37	chr8	145151105	145151105	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtggcctaccgccacctGgtgggcgtgtgctacacgga	14	13	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:145151105G>A	uc003zaz.3	+	3	448	c.405G>A	c.(403-405)CTG>CTA	p.L135L	CYC1_uc003zay.2_Silent_p.L76L	NM_001916	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	135	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCGCCACCTGGTGGGCGTGT	0.627											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	145151105	G	A	145151105	2	1	80	1	0	0	0	0	0	0	0	1	4135	1335	47	4		4	CYC1	8	145151105	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	11106	145151105	1212917	525	54467											
MAF1	84232	broad.mit.edu	37	chr8	145161313	145161313	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaggatctgaaaccacAgctgtggaacgcggtggacg	13	10	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:145161313A>C	uc003zbc.1	+	5	947	c.446A>C	c.(445-447)CAG>CCG	p.Q149P	SHARPIN_uc003zba.2_5'Flank|SHARPIN_uc003zbb.2_5'Flank|KIAA1875_uc003zbd.3_5'Flank|KIAA1875_uc011lky.1_5'Flank	NM_032272	NP_115648	Q9H063	MAF1_HUMAN	MAF1 protein	149					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus					0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGAAACCACAGCTGTGGAAC	0.587													C	145161313	A	C	145161313	3	2	80	1	0	0	0	0	1	0	0	0	9156	188	7	5	460	5	MAF1	8	145161313	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	10208	145161313	1202709	526	54468											
DGAT1	8694	broad.mit.edu	37	chr8	145541626	145541626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttccggatgcggggagagCggggaaagttgagctcgtag	19	7	0	2	rs139792712		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:145541626C>T	uc003zbv.3	-	9	1074	c.806G>A	c.(805-807)CGC>CAC	p.R269H	DGAT1_uc010mfv.2_Intron	NM_012079	NP_036211	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	269	Lumenal (Potential).				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCGGGGAGAGCGGGGAAAGTT	0.617													T	145541626	C	T	145541626	3	4	80	1	0	0	0	0	1	0	0	0	4457	768	27	1	696	1	DGAT1	8	145541626	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	380313	145541626	822396	527	54469											
KIFC2	90990	broad.mit.edu	37	chr8	145692659	145692659	+	Frame_Shift_Del	DEL	G	G	-													ggcatggcttcgaagccccaGggggaggcaggccctgctcc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:145692658_145692658AG>A	uc003zcz.3	+	3	468	c.403_403AG>A	c.(403-405)aggfs	p.R135fs	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	Homo sapiens kinesin family member C2 (KIFC2), mRNA.	135					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TCGAAGCCCCAGGGGGAGGCA	0.612											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	145692659	G	-	145692659	7	5	80	1	0	1	0	1	0	0	0	0	8313	1000	35	0	418	0	KIFC2	8	145692659	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	151033	145692659	671363	528	54470											
KCNV2	169522	broad.mit.edu	37	chr9	2718877	2718877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaggtgttgcgcgtcatgCgcctcatgcgcatcttccgc	12	14	4	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:2718877C>T	uc003zho.1	+	1	1352	c.1138C>T	c.(1138-1140)CGC>TGC	p.R380C		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	380	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		GCGCGTCATGCGCCTCATGCG	0.667													T	2718877	C	T	2718877	3	4	80	1	0	0	0	0	1	0	0	0	8095	768	27	1	1140	1	KCNV2	9	2718877	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08		2718877	138494554	529	54471											
JAK2	3717	broad.mit.edu	37	chr9	5064999	5064999	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaagtagcacctccagcCgtgcttgaaaatatacaaag	8	9	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:5064999C>T	uc010mhm.2	+	8	1286	c.1173C>T	c.(1171-1173)GCC>GCT	p.A391A	JAK2_uc003ziw.2_Silent_p.A391A	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	391					actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		CACCTCCAGCCGTGCTTGAAA	0.343		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				T	5064999	C	T	5064999	2	4	80	1	0	0	0	0	0	0	0	1	7938	639	23	1		1	JAK2	9	5064999	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2346122	5064999	136148432	530	54472											
KIAA1432	57589	broad.mit.edu	37	chr9	5765510	5765510	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctttgtcgacacatgattCgatttcttaaagccattggc	7	10	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:5765510C>T	uc003zji.2	+	19	2794	c.2701C>T	c.(2701-2703)CGA>TGA	p.R901*	KIAA1432_uc003zjh.2_Nonsense_Mutation_p.R901*|KIAA1432_uc003zjl.3_Nonsense_Mutation_p.R864*|KIAA1432_uc003zjj.1_Nonsense_Mutation_p.R443*|ERMP1_uc011lme.1_RNA	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN	connexin 43-interacting protein 150 isoform a	980						integral to membrane					0		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ACACATGATTCGATTTCTTAA	0.458													T	5765510	C	T	5765510	4	4	80	1	0	0	0	0	0	1	0	0	8233	876	31	1	2775	1	KIAA1432	9	5765510	Nonsense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	700511	5765510	135447921	531	54473											
MPDZ	8777	broad.mit.edu	37	chr9	13121774	13121774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaatcctaggccttttcccGgcttcttctgcagctcaata	6	13	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:13121774G>A	uc010mia.1	-	37	5252	c.5195C>T	c.(5194-5196)CCG>CTG	p.P1732L	MPDZ_uc003zkx.3_5'Flank|MPDZ_uc003zky.3_Missense_Mutation_p.P266L|MPDZ_uc010mib.2_Missense_Mutation_p.P437L|MPDZ_uc010mhx.2_Missense_Mutation_p.P554L|MPDZ_uc011lmm.1_Missense_Mutation_p.P591L|MPDZ_uc003zkz.3_Missense_Mutation_p.P425L|MPDZ_uc010mhy.2_Missense_Mutation_p.P1732L|MPDZ_uc010mhz.2_Missense_Mutation_p.P1699L|MPDZ_uc011lmn.1_Missense_Mutation_p.P1699L|MPDZ_uc003zlb.3_Missense_Mutation_p.P1732L	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1732	PDZ 11.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		GCCTTTTCCCGGCTTCTTCTG	0.473													A	13121774	G	A	13121774	3	1	80	1	0	0	0	0	1	0	0	0	9722	1116	39	1	966	1	MPDZ	9	13121774	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	7356264	13121774	128091657	532	54474											
C9orf93	203238	broad.mit.edu	37	chr9	15594156	15594156	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcagaaagaagagaattaCaatttatagtacaggtattt	8	3	0	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:15594156C>A	uc003zmd.2	+	6	976	c.661C>A	c.(661-663)CAA>AAA	p.Q221K	C9orf93_uc010mih.1_Missense_Mutation_p.Q221K|C9orf93_uc003zme.2_Missense_Mutation_p.Q128K|C9orf93_uc011lmu.1_Missense_Mutation_p.Q221K|C9orf93_uc003zmc.2_Missense_Mutation_p.Q221K	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	221	Potential.|Glu-rich.										0				GBM - Glioblastoma multiforme(50;4.84e-07)		AAGAGAATTACAATTTATAGT	0.323													A	15594156	C	A	15594156	3	1	80	1	0	0	0	0	1	0	0	0	2506	479	17	5	679	5	C9orf93	9	15594156	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2472382	15594156	125619275	533	54475											
CNTLN	54875	broad.mit.edu	37	chr9	17135197	17135197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgggttttgccggcgcagCgcgggaggtggtcgcggacg	20	11	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:17135197C>T	uc003zmz.2	+	1	160	c.134C>T	c.(133-135)GCG>GTG	p.A45V	CNTLN_uc003zmx.3_Missense_Mutation_p.A45V|CNTLN_uc003zmy.2_Missense_Mutation_p.A45V|CNTLN_uc003zmw.1_Missense_Mutation_p.A45V	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	45						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		GCCGGCGCAGCGCGGGAGGTG	0.697													T	17135197	C	T	17135197	3	4	80	1	0	0	0	0	1	0	0	0	3639	768	27	1	136	1	CNTLN	9	17135197	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1541041	17135197	124078234	534	54476											
DDX58	23586	broad.mit.edu	37	chr9	32459462	32459462	+	Frame_Shift_Del	DEL	T	T	-													ttatcaggtacaggttttggTttttcttgactatctctgat							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:32459462delT	uc003zra.2	-	17	2546	c.2388delA	c.(2386-2388)AAAfs	p.K796fs	DDX58_uc010mjj.2_RNA|DDX58_uc010mji.2_Frame_Shift_Del_p.K725fs	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	796	Repressor domain.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CAGGTTTTGGTTTTTCTTGAC	0.358													-	32459462	T	-	32459462	7	5	80	1	0	1	0	1	0	0	0	0	4375	1722	60	0	397	0	DDX58	9	32459462	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	15324265	32459462	108753969	535	54477											
TLN1	7094	broad.mit.edu	37	chr9	35711378	35711378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agttggacacaacttgggctCggtcctcctggctctgttga	12	11	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:35711378C>T	uc003zxt.2	-	30	4247	c.3893G>A	c.(3892-3894)CGA>CAA	p.R1298Q		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1298					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AACTTGGGCTCGGTCCTCCTG	0.512													T	35711378	C	T	35711378	3	4	80	1	0	0	0	0	1	0	0	0	15944	884	31	1	3844	1	TLN1	9	35711378	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3251916	35711378	105502053	536	54478											
GLIPR2	152007	broad.mit.edu	37	chr9	36147846	36147847	+	Frame_Shift_Ins	INS	-	-	C													taccggcagaagcacggcgtINSccccccactgaagctctgca					rs60088684	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:36147846_36147847insC	uc003zyz.2	+	2	111_112	c.77_78insC	c.(76-78)GTCfs	p.V26fs	GLIPR2_uc011lpj.1_Frame_Shift_Ins_p.V26fs|GLIPR2_uc010mlf.1_Frame_Shift_Ins_p.V26fs|GLIPR2_uc003zza.2_RNA|GLIPR2_uc003zyy.1_Frame_Shift_Ins_p.V26fs	NM_022343	NP_071738	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	26						extracellular region|Golgi membrane				skin(3)|central_nervous_system(1)	4						AAGCACGGCGTCCCCCCACTGA	0.54													C	36147847	-	C	36147846	7	5	80	1	0	1	1	0	0	0	0	0	6444	1667	58	0	83	0	GLIPR2	9	36147846	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	436468	36147846	105065585	537	54479	225	2									
GLIPR2	152007	broad.mit.edu	37	chr9	36147847	36147848	+	Frame_Shift_Ins	INS	-	-	C													accggcagaagcacggcgtcINScccccactgaagctctgcaa					rs60088684	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:36147846_36147847T>TC	uc003zyz.3	+	1	111_112	c.77_78T>TC	c.(76-78)gtcfs	p.V26fs	GLIPR2_uc011lpj.1_Frame_Shift_Ins_p.V26fs|GLIPR2_uc010mlf.1_Frame_Shift_Ins_p.V26fs|GLIPR2_uc003zyy.1_Frame_Shift_Ins_p.V26fs|GLIPR2_uc003zza.3_Non-coding_Transcript	NM_022343	NP_071738	Q9H4G4	GAPR1_HUMAN	Homo sapiens GLI pathogenesis-related 2 (GLIPR2), mRNA.	26						Golgi membrane|extracellular region		p.V26I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						AAGCACGGCGTCCCCCCACTGA	0.54													C	36147848	-	C	36147847	7	5	80	1	0	1	1	0	0	0	0	0	6444	842	30	0	84	0	GLIPR2	9	36147847	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	1	36147847	105065584	538	54480	225	2									
ZCCHC7	84186	broad.mit.edu	37	chr9	37126641	37126642	+	Frame_Shift_Ins	INS	-	-	G													acagtatttatagatgtaaaINSggaaagaatgttagagttca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:37126641_37126642insG	uc003zzq.2	+	2	485_486	c.312_313insG	c.(310-315)AAAGGAfs	p.K104fs	ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Frame_Shift_Ins_p.K103fs|ZCCHC7_uc010mlt.2_Frame_Shift_Ins_p.K103fs|ZCCHC7_uc003zzs.1_Frame_Shift_Ins_p.K103fs	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	104_105							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(29;0.0137)		ATAGATGTAAAGGAAAGAATGT	0.386													G	37126642	-	G	37126641	7	5	80	1	0	1	1	0	0	0	0	0	17590	69	3	0	314	0	ZCCHC7	9	37126641	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	978794	37126641	104086790	539	54481	226	2									
ZCCHC7	84186	broad.mit.edu	37	chr9	37126642	37126643	+	Frame_Shift_Ins	INS	-	-	G													cagtatttatagatgtaaagINSgaaagaatgttagagttcaa							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:37126641_37126642A>AG	uc003zzq.3	+	1	485_486	c.312_313A>AG	c.(310-315)aaaggafs	p.K104fs	ZCCHC7_uc011lqh.2_Intron|ZCCHC7_uc022bgu.1_Frame_Shift_Ins_p.K104fs|ZCCHC7_uc010mlt.3_Frame_Shift_Ins_p.K103fs|ZCCHC7_uc003zzs.1_Frame_Shift_Ins_p.K103fs	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 7 (ZCCHC7), mRNA.	104							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		ATAGATGTAAAGGAAAGAATGT	0.386													G	37126643	-	G	37126642	7	5	80	1	0	1	1	0	0	0	0	0	17590	1001	35	0	315	0	ZCCHC7	9	37126642	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	1	37126642	104086789	540	54482	226	2									
ZBTB5	9925	broad.mit.edu	37	chr9	37440550	37440550	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaagattgctgctctgccAgcgcaggcaggtagtctttg	15	9	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:37440550A>G	uc003zzx.2	-	2	2199	c.1999T>C	c.(1999-2001)TGG>CGG	p.W667R		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	667					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CTGCTCTGCCAGCGCAGGCAG	0.493													G	37440550	A	G	37440550	3	3	80	1	0	0	0	0	1	0	0	0	17548	188	7	3	38	3	ZBTB5	9	37440550	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	313908	37440550	103772881	541	54483											
PGM5	5239	broad.mit.edu	37	chr9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattattggacagaatggcAtcttgtcgacacctgcggtc	11	9	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478													G	70993145	A	G	70993145	3	3	80	1	0	0	0	0	1	0	0	0	11801	217	8	3	298	3	PGM5	9	70993145	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	33552595	70993145	70220286	542	54484											
SMC5	23137	broad.mit.edu	37	chr9	72967216	72967216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggctttccaaaggcggcGgcgccgtattacattcactc	10	12	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:72967216G>A	uc004ahr.2	+	25	3392	c.3275G>A	c.(3274-3276)CGG>CAG	p.R1092Q	SMC5_uc011lry.1_Missense_Mutation_p.R237Q	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	1092					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						CAAAGGCGGCGGCGCCGTATT	0.368													A	72967216	G	A	72967216	3	1	80	1	0	0	0	0	1	0	0	0	14786	1116	39	1	3373	1	SMC5	9	72967216	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1974071	72967216	68246215	543	54485											
TRPM3	80036	broad.mit.edu	37	chr9	73233871	73233871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtgtgcgcgatgaagtcgCggtgtttggcagccacggca	16	10	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:73233871C>T	uc004aid.2	-	16	2478	c.2234G>A	c.(2233-2235)CGC>CAC	p.R745H	TRPM3_uc004ahu.2_Missense_Mutation_p.R575H|TRPM3_uc004ahv.2_Missense_Mutation_p.R547H|TRPM3_uc004ahw.2_Missense_Mutation_p.R617H|TRPM3_uc004ahx.2_Missense_Mutation_p.R604H|TRPM3_uc004ahy.2_Missense_Mutation_p.R607H|TRPM3_uc004ahz.2_Missense_Mutation_p.R594H|TRPM3_uc004aia.2_Missense_Mutation_p.R592H|TRPM3_uc004aib.2_Missense_Mutation_p.R582H|TRPM3_uc004aic.2_Missense_Mutation_p.R745H	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	770	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						GATGAAGTCGCGGTGTTTGGC	0.612													T	73233871	C	T	73233871	3	4	80	1	0	0	0	0	1	0	0	0	16584	768	27	1	2929	1	TRPM3	9	73233871	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	266655	73233871	67979560	544	54486											
GCNT1	2650	broad.mit.edu	37	chr9	79118407	79118407	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaagggtgctccctacccGccctgcgatggagtccatgt	11	15	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:79118407G>A	uc010mpf.2	+	3	1451	c.1110G>A	c.(1108-1110)CCG>CCA	p.P370P	GCNT1_uc010mpg.2_Silent_p.P370P|GCNT1_uc010mph.2_Silent_p.P370P|GCNT1_uc004akf.3_Silent_p.P370P|GCNT1_uc010mpi.2_Silent_p.P370P|GCNT1_uc004akh.3_Silent_p.P370P	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	beta-1,3-galactosyl-O-glycosyl-glycoprotein	370	Lumenal (Potential).|Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity				0						CTCCCTACCCGCCCTGCGATG	0.517													A	79118407	G	A	79118407	2	1	80	1	0	0	0	0	0	0	0	1	6300	1074	38	1		1	GCNT1	9	79118407	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	5884536	79118407	62095024	545	54487											
PRUNE2	158471	broad.mit.edu	37	chr9	79318668	79318668	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggctttcaaaagatgatcTcgtatcgcttttagaagaca	9	7	2	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:79318668T>C	uc010mpk.2	-	9	7985	c.7861A>G	c.(7861-7863)AGA>GGA	p.R2621G	PRUNE2_uc004akj.3_Missense_Mutation_p.R74G|PRUNE2_uc010mpl.1_Missense_Mutation_p.R74G	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	2621					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						AAAGATGATCTCGTATCGCTT	0.488													C	79318668	T	C	79318668	3	2	80	1	0	0	0	0	1	0	0	0	12641	1559	54	3	1449	3	PRUNE2	9	79318668	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	200261	79318668	61894763	546	54488											
GNA14	9630	broad.mit.edu	37	chr9	80046280	80046280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatggatactcaatgatgcCggtggtgggcactcggacgc	14	9	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:80046280C>T	uc004aku.2	-	4	1073	c.550G>A	c.(550-552)GGC>AGC	p.G184S		NM_004297	NP_004288	O95837	GNA14_HUMAN	G alpha 14	184					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(2)	2						TCAATGATGCCGGTGGTGGGC	0.493													T	80046280	C	T	80046280	3	4	80	1	0	0	0	0	1	0	0	0	6502	652	23	1	533	1	GNA14	9	80046280	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	727612	80046280	61167151	547	54489											
C9orf170	401535	broad.mit.edu	37	chr9	89771628	89771628	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcgggaagaccatgaaaaCagccaaaataattcaaagag	8	8	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:89771628C>T	uc004apa.1	+	2	396	c.309C>T	c.(307-309)AAC>AAT	p.N103N		NM_001001709	NP_001001709	A2RU37	CI170_HUMAN	hypothetical protein LOC401535	103											0						ACCATGAAAACAGCCAAAATA	0.234													T	89771628	C	T	89771628	2	4	80	1	0	0	0	0	0	0	0	1	2469	477	17	4		4	C9orf170	9	89771628	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	9725348	89771628	51441803	548	54490											
CDK20	23552	broad.mit.edu	37	chr9	90585538	90585538	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacaggagctcgggggctcGgtaccacctgcgaggaagag	16	10	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:90585538G>A	uc004apr.2	-	5	814	c.508C>T	c.(508-510)CGA>TGA	p.R170*	CDK20_uc004aps.2_Intron|CDK20_uc004apt.2_Intron|CDK20_uc004apu.2_Intron	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	cell cycle related kinase isoform 3	170	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						TCGGGGGCTCGGTACCACCTG	0.612													A	90585538	G	A	90585538	4	1	80	1	0	0	0	0	0	1	0	0	3137	1124	39	1	548	1	CDK20	9	90585538	Nonsense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	813910	90585538	50627893	549	54491											
SEMA4D	10507	broad.mit.edu	37	chr9	92008486	92008486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggactcaccaaccatgaCggatgtgtagctgtgtgctg	13	10	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:92008486C>T	uc004aqo.1	-	9	1071	c.499G>A	c.(499-501)GTC>ATC	p.V167I	SEMA4D_uc011ltm.1_Missense_Mutation_p.V167I|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.V165I	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	167	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						CCAACCATGACGGATGTGTAG	0.428													T	92008486	C	T	92008486	3	4	80	1	0	0	0	0	1	0	0	0	14034	536	19	1	2699	1	SEMA4D	9	92008486	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1422948	92008486	49204945	550	54492											
SYK	6850	broad.mit.edu	37	chr9	93607755	93607755	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccatcatcagtcagaagcctCagctggagaagctgatcgct	10	12	4	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:93607755C>T	uc004aqz.2	+	3	662	c.457C>T	c.(457-459)CAG>TAG	p.Q153*	SYK_uc004aqy.2_Nonsense_Mutation_p.Q153*|SYK_uc004ara.2_Nonsense_Mutation_p.Q153*|SYK_uc004arb.2_Nonsense_Mutation_p.Q153*|SYK_uc004arc.2_Nonsense_Mutation_p.Q153*|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	153					cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						TCAGAAGCCTCAGCTGGAGAA	0.478			T	ETV6|ITK	MDS|peripheral T-cell lymphoma								T	93607755	C	T	93607755	4	4	80	1	0	0	0	0	0	1	0	0	15435	827	29	4	463	4	SYK	9	93607755	Nonsense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1599269	93607755	47605676	551	54493											
BICD2	23299	broad.mit.edu	37	chr9	95482663	95482663	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacgaggctgggggagggCggtgcgaggccctccttctt	19	10	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:95482663C>T	uc004aso.1	-	4	1038	c.981G>A	c.(979-981)CCG>CCA	p.P327P	BICD2_uc004asp.1_Silent_p.P327P	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	327					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						TGGGGGAGGGCGGTGCGAGGC	0.632													T	95482663	C	T	95482663	2	4	80	1	0	0	0	0	0	0	0	1	1429	755	27	1		1	BICD2	9	95482663	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1874908	95482663	45730768	552	54494											
FGD3	89846	broad.mit.edu	37	chr9	95765277	95765277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggagacctatgtgaagcGgctgcacctgctggaccagg	15	11	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:95765277G>A	uc004asw.2	+	4	1152	c.524G>A	c.(523-525)CGG>CAG	p.R175Q	FGD3_uc004asx.2_Missense_Mutation_p.R175Q|FGD3_uc004asz.2_Missense_Mutation_p.R175Q|FGD3_uc004ata.2_5'UTR	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	175	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						TATGTGAAGCGGCTGCACCTG	0.557													A	95765277	G	A	95765277	3	1	80	1	0	0	0	0	1	0	0	0	5834	1116	39	1	530	1	FGD3	9	95765277	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	282614	95765277	45448154	553	54495											
SUSD3	203328	broad.mit.edu	37	chr9	95841807	95841807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttggagacggtgcaggcCgcataccttggcctcaagca	13	12	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:95841807C>T	uc004atb.2	+	4	516	c.480C>T	c.(478-480)GCC>GCT	p.A160A	SUSD3_uc004atc.2_Silent_p.A147A	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN	sushi domain containing 3	160	Cytoplasmic (Potential).					integral to membrane				breast(2)|skin(2)|ovary(1)|lung(1)	6						CGGTGCAGGCCGCATACCTTG	0.612													T	95841807	C	T	95841807	2	4	80	1	0	0	0	0	0	0	0	1	15406	639	23	1		1	SUSD3	9	95841807	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	76530	95841807	45371624	554	54496											
PHF2	5253	broad.mit.edu	37	chr9	96439875	96439875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgactcccctaggaaaaCgtacgaaaaagggcatggcg	11	13	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:96439875C>T	uc004aub.2	+	22	3355	c.3208C>T	c.(3208-3210)CGT>TGT	p.R1070C	PHF2_uc004auc.2_Intron	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	1070					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCTAGGAAAACGTACGAAAAA	0.537													T	96439875	C	T	96439875	3	4	80	1	0	0	0	0	1	0	0	0	11830	536	19	1	3294	1	PHF2	9	96439875	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	598068	96439875	44773556	555	54497											
TDRD7	23424	broad.mit.edu	37	chr9	100234680	100234682	+	In_Frame_Del	DEL	TTG	TTG	-													tgacaaagctgacattccacTtgttgttctgtacgatacct							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:100234679_100234681CTTG>C	uc004axj.3	+	9	2071_2073	c.1846_1848CTTG>C	c.(1846-1848)ctt>C	p.L616del	TDRD7_uc011lux.2_In_Frame_Del_p.L542del|TDRD7_uc010msp.1_5'UTR|TDRD7_uc011luy.2_5'UTR	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	616					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TGACATTCCACTTGTTGTTCTGT	0.429													-	100234682	TTG	-	100234680	7	5	80	1	0	1	0	1	0	0	0	0	15732	1609	56	0	1881	0	TDRD7	9	100234680	In_Frame_Del	DEL	TTG	TCGA-BR-8368-01A-11D-2340-08	3794805	100234680	40978751	556	54498											
INVS	27130	broad.mit.edu	37	chr9	103055250	103055251	+	Frame_Shift_Del	DEL	AG	AG	-													gctccgactgcagataattcAgagagaacgaaggaggaagg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:103055250_103055251delAG	uc004bap.1	+	14	2923_2924	c.2711_2712delAG	c.(2710-2712)CAGfs	p.Q904fs	INVS_uc011lve.1_Frame_Shift_Del_p.Q808fs|INVS_uc004bao.1_Frame_Shift_Del_p.Q734fs|INVS_uc004baq.1_Frame_Shift_Del_p.Q638fs|INVS_uc004bar.1_Frame_Shift_Del_p.Q808fs|INVS_uc010mtb.1_Frame_Shift_Del_p.Q578fs	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	904					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				CAGATAATTCAGAGAGAACGAA	0.535													-	103055251	AG	-	103055250	7	5	80	1	0	1	0	1	0	0	0	0	7787	188	7	0	2761	0	INVS	9	103055250	Frame_Shift_Del	DEL	AG	TCGA-BR-8368-01A-11D-2340-08	2820570	103055250	38158181	557	54499											
OR13C5	138799	broad.mit.edu	37	chr9	107360981	107360981	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacgagctgagcaggtagaGgaaggtttgcttctcccctc	13	10	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:107360981G>T	uc011lvp.1	-	1	714	c.714C>A	c.(712-714)TCC>TCA	p.S238S		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C,	238	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4						AGCAGGTAGAGGAAGGTTTGC	0.413													T	107360981	G	T	107360981	2	4	80	1	0	0	0	0	0	0	0	1	10937	987	35	5		5	OR13C5	9	107360981	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	4305731	107360981	33852450	558	54500											
ZNF462	58499	broad.mit.edu	37	chr9	109690810	109690810	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactaccagaagcgacacccGtccatcaaggtgaccgctga	9	15	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:109690810G>A	uc004bcz.2	+	3	4906	c.4617G>A	c.(4615-4617)CCG>CCA	p.P1539P	ZNF462_uc010mto.2_Silent_p.P1387P|ZNF462_uc004bda.2_Silent_p.P1387P	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1539					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						AGCGACACCCGTCCATCAAGG	0.542													A	109690810	G	A	109690810	2	1	80	1	0	0	0	0	0	0	0	1	17923	1132	40	1		1	ZNF462	9	109690810	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2329829	109690810	31522621	559	54501											
ACTL7A	10881	broad.mit.edu	37	chr9	111625857	111625857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaccattgtgggtccacCgctttgagtacgaggaacac	10	12	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:111625857C>T	uc004bdj.1	+	1	1255	c.1255C>T	c.(1255-1257)CGC>TGC	p.R419C		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	419						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0						GTGGGTCCACCGCTTTGAGTA	0.582													T	111625857	C	T	111625857	3	4	80	1	0	0	0	0	1	0	0	0	200	652	23	1	1257	1	ACTL7A	9	111625857	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1935047	111625857	29587574	560	54502											
IKBKAP	8518	broad.mit.edu	37	chr9	111668653	111668653	+	Frame_Shift_Del	DEL	G	G	-													caaatggtgaatgacagaccGggggctgaactcactgtggc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:111668653delG	uc004bdm.3	-	14	2093	c.1573delC	c.(1573-1575)CGGfs	p.R525fs	IKBKAP_uc004bdl.2_Frame_Shift_Del_p.R176fs|IKBKAP_uc011lwc.1_Frame_Shift_Del_p.R411fs|IKBKAP_uc010mtq.2_Frame_Shift_Del_p.R176fs	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	525					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						ATGACAGACCGGGGGCTGAAC	0.468													-	111668653	G	-	111668653	7	5	80	1	0	1	0	1	0	0	0	0	7610	1115	39	0	2521	0	IKBKAP	9	111668653	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	42796	111668653	29544778	561	54503											
KIAA0368	23392	broad.mit.edu	37	chr9	114131416	114131416	+	Frame_Shift_Del	DEL	T	T	-													ccttttcattctcctcttcaTttttggttgtccggacccca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:114131415_114131415AT>A	uc004bfe.1	-	46	5547	c.5547_5547AT>T	c.(5545-5547)aatfs	p.N1849fs		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TCTCCTCTTCATTTTTGGTTG	0.438													-	114131416	T	-	114131416	7	5	80	1	0	1	0	1	0	0	0	0	8171	1493	52	0	527	0	KIAA0368	9	114131416	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	2462763	114131416	27082015	562	54504											
SNX30	401548	broad.mit.edu	37	chr9	115600849	115600849	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccttggagggtgagctggctGaacccctggagggtgtgtca	17	9	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:115600849G>A	uc004bgj.3	+	6	1034	c.886G>A	c.(886-888)GAA>AAA	p.E296K	SNX30_uc004bgi.3_5'UTR	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	296					cell communication|protein transport	cytoplasm	phosphatidylinositol binding				0						TGAGCTGGCTGAACCCCTGGA	0.512													A	115600849	G	A	115600849	3	1	80	1	0	0	0	0	1	0	0	0	14900	1291	45	4	908	4	SNX30	9	115600849	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1469433	115600849	25612582	563	54505											
ATP6V1G1	9550	broad.mit.edu	37	chr9	117359933	117359933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctccagacatacttccgGcagaacagggatgaagtctt	9	11	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:117359933G>A	uc004bjc.2	+	3	392	c.267G>A	c.(265-267)CGG>CGA	p.R89R		NM_004888	NP_004879	O75348	VATG1_HUMAN	vacuolar H+ ATPase G1	89					cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances				0						CATACTTCCGGCAGAACAGGG	0.502													A	117359933	G	A	117359933	2	1	80	1	0	0	0	0	0	0	0	1	1186	1190	42	2		2	ATP6V1G1	9	117359933	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1759084	117359933	23853498	564	54506											
ASTN2	23245	broad.mit.edu	37	chr9	119903693	119903693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcgatgggcgtgttagcGcggaaactctccttgaactt	11	10	2	1	rs115011238	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:119903693G>A	uc004bjs.1	-	4	1181	c.1080C>T	c.(1078-1080)CGC>CGT	p.R360R	ASTN2_uc004bjr.1_Silent_p.R360R|ASTN2_uc004bjt.1_Intron	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	360	Cytoplasmic (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						GCGTGTTAGCGCGGAAACTCT	0.587													A	119903693	G	A	119903693	2	1	80	1	0	0	0	0	0	0	0	1	1065	1102	38	1		1	ASTN2	9	119903693	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2543760	119903693	21309738	565	54507											
ASTN2	23245	broad.mit.edu	37	chr9	120176910	120176910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggagagcccggggacgCggcggcggcggcggctccgg	22	14	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:120176910C>T	uc004bjs.1	-	1	408	c.307G>A	c.(307-309)GCG>ACG	p.A103T	ASTN2_uc004bjr.1_Missense_Mutation_p.A103T|ASTN2_uc004bjt.1_Missense_Mutation_p.A103T	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	103	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						CCCGGGGACGCGGCGGCGGCG	0.552													T	120176910	C	T	120176910	3	4	80	1	0	0	0	0	1	0	0	0	1065	768	27	1	3879	1	ASTN2	9	120176910	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	273217	120176910	21036521	566	54508											
TRAF1	7185	broad.mit.edu	37	chr9	123675736	123675736	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcaaacacacgcagcttcCcctccagctcagccagaagc	6	18	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:123675736C>A	uc004bku.1	-	5	1147	c.575G>T	c.(574-576)GGG>GTG	p.G192V	TRAF1_uc011lyg.1_Missense_Mutation_p.G70V|TRAF1_uc010mvl.1_Missense_Mutation_p.G192V	NM_005658	NP_005649	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	192					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			skin(2)|ovary(1)	3						ACGCAGCTTCCCCTCCAGCTC	0.612													A	123675736	C	A	123675736	3	1	80	1	0	0	0	0	1	0	0	0	16434	623	22	5	691	5	TRAF1	9	123675736	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3498826	123675736	17537695	567	54509											
GSN	2934	broad.mit.edu	37	chr9	124064376	124064376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacttcttcacgggcgacGcctacgtcatcctgaagaca	10	13	3	3	rs148748121	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:124064376G>A	uc004blf.1	+	2	341	c.280G>A	c.(280-282)GCC>ACC	p.A94T	GSN_uc004bld.1_Missense_Mutation_p.A43T|GSN_uc010mvq.1_Missense_Mutation_p.A54T|GSN_uc010mvr.1_Missense_Mutation_p.A54T|GSN_uc010mvu.1_Missense_Mutation_p.A43T|GSN_uc010mvt.1_Missense_Mutation_p.A43T|GSN_uc010mvs.1_Missense_Mutation_p.A43T|GSN_uc004ble.1_Missense_Mutation_p.A43T|GSN_uc010mvv.1_Missense_Mutation_p.A43T|GSN_uc011lyh.1_Missense_Mutation_p.A60T|GSN_uc011lyi.1_Missense_Mutation_p.A43T|GSN_uc011lyj.1_Missense_Mutation_p.A67T	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	94	Actin-severing (Potential).|Gelsolin-like 1.				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3						CACGGGCGACGCCTACGTCAT	0.607													A	124064376	G	A	124064376	3	1	80	1	0	0	0	0	1	0	0	0	6825	1087	38	1	314	1	GSN	9	124064376	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	388640	124064376	17149055	568	54510											
GSN	2934	broad.mit.edu	37	chr9	124079433	124079433	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accccttcgcccagggggccCtgaagtcagaggactgcttc	12	15	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:124079433C>A	uc004blf.1	+	7	1037	c.976C>A	c.(976-978)CTG>ATG	p.L326M	GSN_uc004bld.1_Missense_Mutation_p.L275M|GSN_uc010mvq.1_Missense_Mutation_p.L286M|GSN_uc010mvr.1_Missense_Mutation_p.L286M|GSN_uc010mvu.1_Missense_Mutation_p.L275M|GSN_uc010mvt.1_Missense_Mutation_p.L275M|GSN_uc010mvs.1_Missense_Mutation_p.L275M|GSN_uc004ble.1_Missense_Mutation_p.L275M|GSN_uc010mvv.1_Missense_Mutation_p.L275M|GSN_uc011lyh.1_Missense_Mutation_p.L292M|GSN_uc011lyi.1_Missense_Mutation_p.L275M|GSN_uc011lyj.1_Missense_Mutation_p.L299M|GSN_uc004blg.1_Missense_Mutation_p.L57M	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	326	Gelsolin-like 3.				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3						CCAGGGGGCCCTGAAGTCAGA	0.572													A	124079433	C	A	124079433	3	1	80	1	0	0	0	0	1	0	0	0	6825	680	24	5	1030	5	GSN	9	124079433	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	15057	124079433	17133998	569	54511											
GSN	2934	broad.mit.edu	37	chr9	124091285	124091285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctccaacaagattggaCgttttgtggtgagcccctgc	11	12	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:124091285C>T	uc004blf.1	+	14	2093	c.2032C>T	c.(2032-2034)CGT>TGT	p.R678C	GSN_uc004bld.1_Missense_Mutation_p.R627C|GSN_uc010mvq.1_Missense_Mutation_p.R638C|GSN_uc010mvr.1_Missense_Mutation_p.R638C|GSN_uc010mvu.1_Missense_Mutation_p.R627C|GSN_uc010mvt.1_Missense_Mutation_p.R627C|GSN_uc010mvs.1_Missense_Mutation_p.R627C|GSN_uc004ble.1_Missense_Mutation_p.R627C|GSN_uc010mvv.1_Missense_Mutation_p.R627C|GSN_uc011lyh.1_Missense_Mutation_p.R644C|GSN_uc011lyi.1_Missense_Mutation_p.R627C|GSN_uc011lyj.1_Missense_Mutation_p.R651C|GSN_uc004blg.1_Missense_Mutation_p.R409C	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	678	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3						CAAGATTGGACGTTTTGTGGT	0.617													T	124091285	C	T	124091285	3	4	80	1	0	0	0	0	1	0	0	0	6825	536	19	1	2114	1	GSN	9	124091285	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	11852	124091285	17122146	570	54512											
RABGAP1	23637	broad.mit.edu	37	chr9	125861042	125861042	+	Frame_Shift_Del	DEL	A	A	-													acaaggcagaatctgagattAaaaaaaacagttctatcatt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:125861041_125861041TA>T	uc011lzh.2	+	22	2915	c.2781_2781TA>T	c.(2779-2781)attfs	p.I927fs	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Frame_Shift_Del_p.I266fs	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	927					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AATCTGAGATTAAAAAAAACA	0.398													-	125861042	A	-	125861042	7	5	80	1	0	1	0	1	0	0	0	0	12964	363	13	0	2868	0	RABGAP1	9	125861042	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	1769757	125861042	15352389	571	54513											
GARNL3	84253	broad.mit.edu	37	chr9	130111298	130111298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtttccactgatgctggCgtcttgctagtggatggtta	13	8	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:130111298C>T	uc011mae.1	+	17	1928	c.1527C>T	c.(1525-1527)GGC>GGT	p.G509G	GARNL3_uc011mad.1_Silent_p.G487G	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	509	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CTGATGCTGGCGTCTTGCTAG	0.507													T	130111298	C	T	130111298	2	4	80	1	0	0	0	0	0	0	0	1	6241	755	27	1		1	GARNL3	9	130111298	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	4250256	130111298	11102133	572	54514											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130648926	130648926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccatacagctgggcccaCgatgagaagacccttttctc	9	13	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:130648926C>T	uc004bso.1	-	7	1073	c.954G>A	c.(952-954)TCG>TCA	p.S318S	ST6GALNAC6_uc004bsn.1_Silent_p.S284S|ST6GALNAC6_uc011man.1_Silent_p.S118S|ST6GALNAC6_uc004bsp.1_Missense_Mutation_p.R317H|ST6GALNAC6_uc004bsq.1_Silent_p.S284S|ST6GALNAC6_uc004bsr.2_Silent_p.S284S|ST6GALNAC6_uc010mxp.1_RNA	NM_013443	NP_038471	Q969X2	SIA7F_HUMAN	sialytransferase 7F	318	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane|plasma membrane					0						GCTGGGCCCACGATGAGAAGA	0.612													T	130648926	C	T	130648926	2	4	80	1	0	0	0	0	0	0	0	1	15227	523	19	1		1	ST6GALNAC6	9	130648926	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	537628	130648926	10564505	573	54515											
GOLGA2	2801	broad.mit.edu	37	chr9	131020423	131020423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctccttcagctgcccacGtagccttgcctgctcctcct	7	18	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:131020423G>A	uc011maw.1	-	22	2276	c.2263C>T	c.(2263-2265)CGT>TGT	p.R755C	GOLGA2_uc010mxw.2_Missense_Mutation_p.R78C|GOLGA2_uc004buh.2_Missense_Mutation_p.R228C	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	755	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						AGCTGCCCACGTAGCCTTGCC	0.622													A	131020423	G	A	131020423	3	1	80	1	0	0	0	0	1	0	0	0	6552	1145	40	1	765	1	GOLGA2	9	131020423	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	371497	131020423	10193008	574	54516											
GOLGA2	2801	broad.mit.edu	37	chr9	131029791	131029791	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctccccattgacacatgtCgcagactataagagacgaga	8	13	0	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:131029791C>T	uc011maw.1	-	6	439	c.426G>A	c.(424-426)GCG>GCA	p.A142A	GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004bul.1_Silent_p.A43A|GOLGA2_uc004bum.1_Silent_p.A43A	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	142	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						TGACACATGTCGCAGACTATA	0.552													T	131029791	C	T	131029791	2	4	80	1	0	0	0	0	0	0	0	1	6552	871	31	1		1	GOLGA2	9	131029791	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	9368	131029791	10183640	575	54517											
NUP188	23511	broad.mit.edu	37	chr9	131718660	131718660	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaaagtgaaagctaatAaagatgtagcttcaccattg	8	6	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:131718660A>G	uc004bws.1	+	4	215	c.193A>G	c.(193-195)AAA>GAA	p.K65E	NUP188_uc004bwq.1_Missense_Mutation_p.K67E	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	65					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						GAAAGCTAATAAAGATGTAGC	0.328													G	131718660	A	G	131718660	3	3	80	1	0	0	0	0	1	0	0	0	10758	363	13	3	207	3	NUP188	9	131718660	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	688869	131718660	9494771	576	54518											
ASS1	445	broad.mit.edu	37	chr9	133355792	133355792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaagcatggcgtgggccGtattgacatcgtggagaacc	16	9	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:133355792G>A	uc004bzm.2	+	12	1150	c.794G>A	c.(793-795)CGT>CAT	p.R265H	ASS1_uc004bzn.2_Missense_Mutation_p.R265H|ASS1_uc010mza.2_Missense_Mutation_p.R341H|ASS1_uc004bzo.2_Missense_Mutation_p.R246H|ASS1_uc010mzb.2_Missense_Mutation_p.R303H|ASS1_uc004bzp.2_Missense_Mutation_p.R265H|ASS1_uc010mzc.2_Missense_Mutation_p.R265H	NM_000050	NP_000041	P00966	ASSY_HUMAN	argininosuccinate synthetase 1	265			R -> H (in CTLN1).|R -> C (in CTLN1; severe clinical course).		arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GGCGTGGGCCGTATTGACATC	0.612													A	133355792	G	A	133355792	3	1	80	1	0	0	0	0	1	0	0	0	1061	1145	40	1	832	1	ASS1	9	133355792	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1637132	133355792	7857639	577	54519											
LAMC3	10319	broad.mit.edu	37	chr9	133932467	133932467	+	Frame_Shift_Del	DEL	G	G	-													tacaagagggagatgccacaGgggggtccctatgccagctg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:133932466_133932466AG>A	uc004caa.1	+	11	2188	c.2090_2090AG>A	c.(2089-2091)cagfs	p.Q697fs		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	697	Laminin EGF-like 5; second part.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GAGATGCCACAGGGGGGTCCC	0.612													-	133932467	G	-	133932467	7	5	80	1	0	1	0	1	0	0	0	0	8616	991	35	0	2137	0	LAMC3	9	133932467	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	576675	133932467	7280964	578	54520											
BAT2L1	84726	broad.mit.edu	37	chr9	134340381	134340381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgaaaggcaggtgaggccCggaagcaggcagagaaggaa	17	8	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:134340381C>T	uc004can.3	+	11	1691	c.1636C>T	c.(1636-1638)CGG>TGG	p.R546W	BAT2L1_uc010mzj.1_Missense_Mutation_p.R129W	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	546	Potential.						protein binding				0						AGGTGAGGCCCGGAAGCAGGC	0.622													T	134340381	C	T	134340381	3	4	80	1	0	0	0	0	1	0	0	0	1320	643	23	1	1678	1	BAT2L1	9	134340381	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	407914	134340381	6873050	579	54521											
BAT2L1	84726	broad.mit.edu	37	chr9	134350806	134350806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggggtcctgggggcccGcagcatctactgcagcagtc	17	12	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:134350806G>A	uc004can.3	+	15	3345	c.3290G>A	c.(3289-3291)CGC>CAC	p.R1097H	BAT2L1_uc010mzj.1_Missense_Mutation_p.R680H|BAT2L1_uc004cao.3_Missense_Mutation_p.R455H	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1097							protein binding				0						CTGGGGGCCCGCAGCATCTAC	0.701													A	134350806	G	A	134350806	3	1	80	1	0	0	0	0	1	0	0	0	1320	1087	38	1	3348	1	BAT2L1	9	134350806	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	10425	134350806	6862625	580	54522											
TTF1	7270	broad.mit.edu	37	chr9	135277202	135277203	+	Frame_Shift_Ins	INS	-	-	T													ctggtgattggactttttctINStttttttcttagacttgttt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:135277201_135277202C>CT	uc004cbl.3	-	1	1076_1077	c.1007_1008G>AG	c.(1006-1008)aagfs	p.K336fs	TTF1_uc004cbm.3_Intron|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	336	Poly-Lys.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TGGACTTTTTCTTTTTTTTCTT	0.51													T	135277203	-	T	135277202	7	5	80	1	0	1	1	0	0	0	0	0	16715	1609	56	0	1750	0	TTF1	9	135277202	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	926396	135277202	5936229	581	54523											
TTF1	7270	broad.mit.edu	37	chr9	135277373	135277374	+	Frame_Shift_Ins	INS	-	-	T													gtgattggactttttcttctINStttttttcttagactttttt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:135277372_135277373C>CT	uc004cbl.3	-	1	905_906	c.836_837G>AG	c.(835-837)aagfs	p.K279fs	TTF1_uc004cbm.3_Intron|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	279	Poly-Lys.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACTTTTTCTTCTTTTTTTTCTT	0.48													T	135277374	-	T	135277373	7	5	80	1	0	1	1	0	0	0	0	0	16715	1609	56	0	1921	0	TTF1	9	135277373	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	171	135277373	5936058	582	54524											
GTF3C4	9329	broad.mit.edu	37	chr9	135554691	135554691	+	Frame_Shift_Del	DEL	A	A	-													atttttacaagaagctttggAaaaaaagattgaaagcagtg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:135554691delA	uc010mzv.2	+	2	1943	c.1685delA	c.(1684-1686)GAAfs	p.E562fs	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	562					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GAAGCTTTGGAAAAAAAGATT	0.353													-	135554691	A	-	135554691	7	5	80	1	0	1	0	1	0	0	0	0	6875	246	9	0	1691	0	GTF3C4	9	135554691	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	277318	135554691	5658740	583	54525											
RALGDS	5900	broad.mit.edu	37	chr9	135975666	135975667	+	Frame_Shift_Del	DEL	GA	GA	-													ctgacttactccggtcatctGagagaatctgcagcagctca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:135975665_135975666TGA>T	uc004cco.3	-	16	2578_2579	c.2558_2559TCA>A	c.(2557-2559)tcafs	p.S853fs	RALGDS_uc004ccn.3_Frame_Shift_Del_p.S41fs|RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Frame_Shift_Del_p.S841fs|RALGDS_uc004ccr.3_Frame_Shift_Del_p.S852fs|RALGDS_uc011mcv.2_Frame_Shift_Del_p.S824fs|RALGDS_uc004ccs.3_Frame_Shift_Del_p.S798fs|RALGDS_uc011mcw.2_Frame_Shift_Del_p.S924fs|RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccv.1_3'UTR|RALGDS_uc004ccu.1_3'UTR	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	853	Ras-associating.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TCCGGTCATCTGAGAGAATCTG	0.579			T	CIITA	"PMBL, Hodgkin Lymphona, "								-	135975667	GA	-	135975666	7	5	80	1	0	1	0	1	0	0	0	0	13016	1294	45	0	194	0	RALGDS	9	135975666	Frame_Shift_Del	DEL	GA	TCGA-BR-8368-01A-11D-2340-08	420975	135975666	5237765	584	54526											
PMPCA	23203	broad.mit.edu	37	chr9	139317663	139317663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtatgagcacatccagaccGccctgtcgagtaaggacggg	13	12	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:139317663G>A	uc004chl.2	+	13	1530	c.1525G>A	c.(1525-1527)GCC>ACC	p.A509T	PMPCA_uc010nbl.2_Missense_Mutation_p.A409T|PMPCA_uc011mdz.1_Missense_Mutation_p.A378T|PMPCA_uc004chn.1_3'UTR	NM_015160	NP_055975	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	509					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		CATCCAGACCGCCCTGTCGAG	0.652													A	139317663	G	A	139317663	3	1	80	1	0	0	0	0	1	0	0	0	12140	1087	38	1	1575	1	PMPCA	9	139317663	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	3341997	139317663	1895768	585	54527											
INPP5E	56623	broad.mit.edu	37	chr9	139324254	139324254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatttgccagctgccaacGgaatgctgtggaggaggagg	15	8	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:139324254G>A	uc004cho.2	-	10	2193	c.1808C>T	c.(1807-1809)CCG>CTG	p.P603L	INPP5E_uc010nbm.2_Missense_Mutation_p.P602L	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase E	603						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			skin(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		AGCTGCCAACGGAATGCTGTG	0.567													A	139324254	G	A	139324254	3	1	80	1	0	0	0	0	1	0	0	0	7757	1116	39	1	130	1	INPP5E	9	139324254	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	6591	139324254	1889177	586	54528											
ABCA2	20	broad.mit.edu	37	chr9	139905490	139905490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcccacgacgccctcaacCgccatggccaccagtccgcg	9	20	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:139905490C>T	uc011mem.1	-	38	6136	c.5988G>A	c.(5986-5988)GCG>GCA	p.A1996A	ABCA2_uc011mel.1_Silent_p.A1997A|ABCA2_uc004ckl.1_Silent_p.A1927A|ABCA2_uc004ckm.1_Silent_p.A2027A	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1996	Helical; (Potential).				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGCCCTCAACCGCCATGGCCA	0.537													T	139905490	C	T	139905490	2	4	80	1	0	0	0	0	0	0	0	1	32	639	23	1		1	ABCA2	9	139905490	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	581236	139905490	1307941	587	54529											
DPP7	29952	broad.mit.edu	37	chr9	140007557	140007557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtgccgaactcccagcGgaccgtgtcgtaggctgcgt	15	13	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:140007557G>A	uc004clh.2	-	7	748	c.718C>T	c.(718-720)CGC>TGC	p.R240C		NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	dipeptidyl peptidase 7 preproprotein	240						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		AACTCCCAGCGGACCGTGTCG	0.642													A	140007557	G	A	140007557	3	1	80	1	0	0	0	0	1	0	0	0	4731	1116	39	1	788	1	DPP7	9	140007557	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	102067	140007557	1205874	588	54530											
NDOR1	27158	broad.mit.edu	37	chr9	140106987	140106987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatattccggaagaacctgCcctccactgccctctgtcag	7	15	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:140106987C>T	uc004clw.2	+	3	358	c.247C>T	c.(247-249)CCC>TCC	p.P83S	NDOR1_uc004clx.2_Missense_Mutation_p.P83S|NDOR1_uc011mes.1_Missense_Mutation_p.P83S|NDOR1_uc004cly.2_Missense_Mutation_p.P83S	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	83	Flavodoxin-like.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GAAGAACCTGCCCTCCACTGC	0.592													T	140106987	C	T	140106987	3	4	80	1	0	0	0	0	1	0	0	0	10249	739	26	2	257	2	NDOR1	9	140106987	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	99430	140106987	1106444	589	54531											
EHMT1	79813	broad.mit.edu	37	chr9	140638440	140638440	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggacgactcagaggagctCgaggaggacgacggccatgg	18	9	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:140638440C>T	uc011mfc.1	+	6	1105	c.1068C>T	c.(1066-1068)CTC>CTT	p.L356L	EHMT1_uc004coa.2_Silent_p.L356L|EHMT1_uc004cob.1_Silent_p.L325L	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	356					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAGAGGAGCTCGAGGAGGACG	0.647													T	140638440	C	T	140638440	2	4	80	1	0	0	0	0	0	0	0	1	4983	871	31	1		1	EHMT1	9	140638440	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	531453	140638440	574991	590	54532											
LARP4B	23185	broad.mit.edu	37	chr10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-													agataagcagaattccaatgTttttttaagtacttctcggg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:890938_890938GT>G	uc001ifs.1	-	4	529	c.488_488AC>C	c.(487-489)acafs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	163	HTH La-type RNA-binding.						RNA binding|nucleotide binding	p.T163P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GAATTCCAATGTTTTTTTAAG	0.353													-	890939	T	-	890939	7	5	80	1	0	1	0	1	0	0	0	0	8631	1725	60	0	1781	0	LARP4B	10	890939	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08		890939	134643808	591	54533											
AKR1E2	83592	broad.mit.edu	37	chr10	4889693	4889694	+	Frame_Shift_Del	DEL	AA	AA	-													ttttcagaactaaaaatcacAaagactatcctttccacata							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:4889692_4889693CAA>C	uc001ihi.3	+	9	1048_1049	c.933_934CAA>C	c.(931-936)cacaaafs	p.H311fs	AKR1E2_uc001ihj.3_Non-coding_Transcript|AKR1E2_uc001ihk.3_Frame_Shift_Del_p.H254fs|AKR1E2_uc009xhw.3_Frame_Shift_Del_p.H213fs	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	Homo sapiens aldo-keto reductase family 1, member E2 (AKR1E2), mRNA.	311						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CTAAAAATCACAAAGACTATCC	0.342													-	4889694	AA	-	4889693	7	5	80	1	0	1	0	1	0	0	0	0	474	131	5	0	972	0	AKR1E2	10	4889693	Frame_Shift_Del	DEL	AA	TCGA-BR-8368-01A-11D-2340-08	3998754	4889693	130645054	592	54534											
ITIH5	80760	broad.mit.edu	37	chr10	7657997	7657997	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtcaagcacgaataccAcattcttgggtaaaggagga	11	8	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:7657997A>G	uc001ijq.2	-	7	966	c.887T>C	c.(886-888)GTG>GCG	p.V296A	ITIH5_uc001ijp.2_Missense_Mutation_p.V82A|ITIH5_uc001ijr.1_Missense_Mutation_p.V296A	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	296	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						CACGAATACCACATTCTTGGG	0.478													G	7657997	A	G	7657997	3	3	80	1	0	0	0	0	1	0	0	0	7907	159	6	3	2096	3	ITIH5	10	7657997	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	2768304	7657997	127876750	593	54535											
TAF3	83860	broad.mit.edu	37	chr10	8005989	8005989	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagaaattattaatgaTgagaatttcctgggcaagag	12	3	0	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:8005989T>C	uc010qbd.1	+	3	516	c.516T>C	c.(514-516)GAT>GAC	p.D172D		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	172					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1						TTATTAATGATGAGAATTTCC	0.493													C	8005989	T	C	8005989	2	2	80	1	0	0	0	0	0	0	0	1	15522	1461	51	3		3	TAF3	10	8005989	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	347992	8005989	127528758	594	54536											
GATA3	2625	broad.mit.edu	37	chr10	8100708	8100708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctacccgccctacgtgcccGagtacagctccggactcttc	8	19	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:8100708G>A	uc001ika.2	+	3	1239	c.682G>A	c.(682-684)GAG>AAG	p.E228K	GATA3_uc001ijz.2_Missense_Mutation_p.E228K	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	228					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22						CTACGTGCCCGAGTACAGCTC	0.692			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						A	8100708	G	A	8100708	3	1	80	1	0	0	0	0	1	0	0	0	6255	1059	37	1	688	1	GATA3	10	8100708	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	94719	8100708	127434039	595	54537											
CUBN	8029	broad.mit.edu	37	chr10	17113854	17113854	+	Frame_Shift_Del	DEL	T	T	-													taaacagctctgaaactagcTttttcaacagaagcatctat							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:17113854delT	uc001ioo.2	-	18	2470	c.2418delA	c.(2416-2418)AAAfs	p.K806fs		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	806	CUB 3.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGAAACTAGCTTTTTCAACAG	0.313													-	17113854	T	-	17113854	7	5	80	1	0	1	0	1	0	0	0	0	4051	1606	56	0	8653	0	CUBN	10	17113854	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	9013146	17113854	118420893	596	54538											
KIAA1217	56243	broad.mit.edu	37	chr10	24831889	24831889	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatagtatttctgatgcatcAagaacatcagaatataaaac	5	6	3	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:24831889A>C	uc001iru.3	+	19	4093	c.3690A>C	c.(3688-3690)TCA>TCC	p.S1230S	KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Silent_p.S913S|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Silent_p.S66S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1230					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						CTGATGCATCAAGAACATCAG	0.423													C	24831889	A	C	24831889	2	2	80	1	0	0	0	0	0	0	0	1	8216	117	5	5		5	KIAA1217	10	24831889	Silent	SNP	A	TCGA-BR-8368-01A-11D-2340-08	7718035	24831889	110702858	597	54539											
ARHGAP21	57584	broad.mit.edu	37	chr10	24874300	24874300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtggggaacacgggaaactCgctctcgctgtcggtttcca	13	11	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:24874300C>T	uc001isb.2	-	26	5405	c.4918G>A	c.(4918-4920)GAG>AAG	p.E1640K	ARHGAP21_uc010qdb.1_RNA	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1639	Interaction with CTNNA1.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						ACGGGAAACTCGCTCTCGCTG	0.547													T	24874300	C	T	24874300	3	4	80	1	0	0	0	0	1	0	0	0	871	893	31	1	962	1	ARHGAP21	10	24874300	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	42411	24874300	110660447	598	54540											
GPR158	57512	broad.mit.edu	37	chr10	25464572	25464572	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatcttggcgcagaaactcGccgaggaggtgcccatggac	13	13	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:25464572G>T	uc001isj.2	+	1	283	c.223G>T	c.(223-225)GCC>TCC	p.A75S	LOC100128811_uc010qde.1_Intron	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	75	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						GCAGAAACTCGCCGAGGAGGT	0.687													T	25464572	G	T	25464572	3	4	80	1	0	0	0	0	1	0	0	0	6663	1087	38	5	225	5	GPR158	10	25464572	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	590272	25464572	110070175	599	54541											
SVIL	6840	broad.mit.edu	37	chr10	29760116	29760116	+	Frame_Shift_Del	DEL	C	C	-													ctccccgagtgcaccaccatCcccccctggaaacactgcag							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:29760115_29760115TC>T	uc001iut.1	-	30	6340	c.5587_5587GA>A	c.(5587-5589)atgfs	p.M1863fs	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Frame_Shift_Del_p.M777fs|SVIL_uc001iuu.1_Frame_Shift_Del_p.M1437fs	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1863					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCACCACCATCCCCCCCTGG	0.527													-	29760116	C	-	29760116	7	5	80	1	0	1	0	1	0	0	0	0	15418	842	30	0	1090	0	SVIL	10	29760116	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	4295544	29760116	105774631	600	54542											
NRP1	8829	broad.mit.edu	37	chr10	33475257	33475257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcctctggcttctggtagCgcagtttgaccctgagtgtg	12	11	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:33475257C>T	uc001iwx.3	-	14	2745	c.2222G>A	c.(2221-2223)CGC>CAC	p.R741H	NRP1_uc001iwv.3_Missense_Mutation_p.R741H|NRP1_uc009xlz.2_Missense_Mutation_p.R735H|NRP1_uc001iww.3_Missense_Mutation_p.R553H|NRP1_uc001iwy.3_Missense_Mutation_p.R734H	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	741	Extracellular (Potential).|MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	CTTCTGGTAGCGCAGTTTGAC	0.562													T	33475257	C	T	33475257	3	4	80	1	0	0	0	0	1	0	0	0	10660	768	27	1	565	1	NRP1	10	33475257	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3715141	33475257	102059490	601	54543											
C10orf25	220979	broad.mit.edu	37	chr10	45496243	45496243	+	Frame_Shift_Del	DEL	G	G	-													cacaggacgccttccgagttGgggggaggagaaaacaaaac							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:45496242_45496242TG>T	uc001jbv.2	-	0	229	c.66_66CA>A	c.(64-66)ccafs	p.P22fs	ZNF22_uc001jbw.3_5'Flank|ZNF22_uc021ppo.1_5'Flank	NM_001039380	NP_001034469	Q5T742	CJ025_HUMAN	Homo sapiens chromosome 10 open reading frame 25 (C10orf25), mRNA.	22						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						CCTTCCGAGTTGGGGGGAGGA	0.587													-	45496243	G	-	45496243	7	5	80	1	0	1	0	1	0	0	0	0	1598	1348	47	0	311	0	C10orf25	10	45496243	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	12020986	45496243	90038504	602	54544											
MAPK8	5599	broad.mit.edu	37	chr10	49613018	49613019	+	Frame_Shift_Ins	INS	-	-	A													ttatgaaatgtgttaatcacINSaaaaatgtaagtgaacattt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:49613018_49613019insA	uc009xnz.2	+	3	470_471	c.246_247insA	c.(244-249)CACAAAfs	p.H82fs	MAPK8_uc001jgl.2_Frame_Shift_Ins_p.H82fs|MAPK8_uc001jgm.2_Frame_Shift_Ins_p.H82fs|MAPK8_uc001jgo.2_Frame_Shift_Ins_p.H82fs|MAPK8_uc009xoa.2_Frame_Shift_Ins_p.H82fs|MAPK8_uc001jgn.2_Frame_Shift_Ins_p.H82fs|MAPK8_uc010qgk.1_Frame_Shift_Ins_p.H82fs|MAPK8_uc001jgp.2_Frame_Shift_Ins_p.H82fs|MAPK8_uc001jgq.2_Frame_Shift_Ins_p.H82fs	NM_139047	NP_620635	P45983	MK08_HUMAN	mitogen-activated protein kinase 8 isoform JNK1	82_83	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		GTGTTAATCACAAAAATGTAAG	0.332													A	49613019	-	A	49613018	7	5	80	1	0	1	1	0	0	0	0	0	9283	477	17	0	252	0	MAPK8	10	49613018	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	4116775	49613018	85921729	603	54545	227	2									
MAPK8	5599	broad.mit.edu	37	chr10	49613019	49613020	+	Frame_Shift_Ins	INS	-	-	A													tatgaaatgtgttaatcacaINSaaaatgtaagtgaacatttt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:49613018_49613019C>CA	uc001jgp.3	+	1	295_296	c.246_247C>CA	c.(244-249)cacaaafs	p.H82fs	MAPK8_uc001jgn.3_Frame_Shift_Ins_p.H82fs|MAPK8_uc001jgm.3_Frame_Shift_Ins_p.H82fs|MAPK8_uc001jgo.3_Frame_Shift_Ins_p.H82fs|MAPK8_uc001jgq.3_Frame_Shift_Ins_p.H82fs|MAPK8_uc009xoa.3_Frame_Shift_Ins_p.H82fs|MAPK8_uc021ppy.1_Frame_Shift_Ins_p.H82fs|MAPK8_uc010qgk.2_Frame_Shift_Ins_p.H82fs	NM_139049	NP_620637	P45983	MK08_HUMAN	Homo sapiens mitogen-activated protein kinase 8 (MAPK8), transcript variant JNK1-a2, mRNA.	82	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|histone deacetylase binding|histone deacetylase regulator activity|protein binding	p.K83*(3)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		GTGTTAATCACAAAAATGTAAG	0.332													A	49613020	-	A	49613019	7	5	80	1	0	1	1	0	0	0	0	0	9283	131	5	0	253	0	MAPK8	10	49613019	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	1	49613019	85921728	604	54546	227	2									
A1CF	29974	broad.mit.edu	37	chr10	52596039	52596039	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaataatcggcagttgtcCacactggcacaaacccctaa	6	13	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:52596039C>T	uc001jjj.2	-	6	587	c.399G>A	c.(397-399)GTG>GTA	p.V133V	A1CF_uc010qhn.1_Silent_p.V141V|A1CF_uc001jji.2_Silent_p.V133V|A1CF_uc001jjh.2_Silent_p.V141V|A1CF_uc010qho.1_Silent_p.V141V|A1CF_uc009xov.2_Silent_p.V133V	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	apobec-1 complementation factor isoform 2	133	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			central_nervous_system(1)	1						GGCAGTTGTCCACACTGGCAC	0.428													T	52596039	C	T	52596039	2	4	80	1	0	0	0	0	0	0	0	1	2	581	21	4		4	A1CF	10	52596039	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2983020	52596039	82938708	605	54547											
BICC1	80114	broad.mit.edu	37	chr10	60588642	60588642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacattgctagtgtcagtggCcgctggtagcagcaccctct	12	12	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:60588642C>T	uc001jki.1	+	21	2916	c.2916C>T	c.(2914-2916)GGC>GGT	p.G972G		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	972					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						GTGTCAGTGGCCGCTGGTAGC	0.527													T	60588642	C	T	60588642	2	4	80	1	0	0	0	0	0	0	0	1	1427	726	26	2		2	BICC1	10	60588642	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	7992603	60588642	74946105	606	54548											
CCDC6	8030	broad.mit.edu	37	chr10	61574410	61574410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagcaagactaaacaaacCgcttttcagcttcaagctta	5	11	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:61574410C>T	uc001jks.3	-	4	1322	c.686G>A	c.(685-687)CGA>CAA	p.R229Q		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	229	5.|5 X 29 AA tandem repeats.|Potential.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton			ovary(3)|breast(1)	4				Kidney(211;0.0597)		CTAAACAAACCGCTTTTCAGC	0.378													T	61574410	C	T	61574410	3	4	80	1	0	0	0	0	1	0	0	0	2830	666	23	1	762	1	CCDC6	10	61574410	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	985768	61574410	73960337	607	54549											
CCDC6	8030	broad.mit.edu	37	chr10	61665913	61665915	+	In_Frame_Del	DEL	CTC	CTC	-													gctttgcgcaggtcgcggttCtcctcctgcagtgccttgca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:61665913_61665915delCTC	uc001jks.3	-	1	904_906	c.268_270delGAG	c.(268-270)GAGdel	p.E90del		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	90	Potential.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton			ovary(3)|breast(1)	4				Kidney(211;0.0597)		GGTCGCGGTTCTCCTCCTGCAGT	0.665													-	61665915	CTC	-	61665913	7	5	80	1	0	1	0	1	0	0	0	0	2830	912	32	0	1190	0	CCDC6	10	61665913	In_Frame_Del	DEL	CTC	TCGA-BR-8368-01A-11D-2340-08	91503	61665913	73868834	608	54550											
ANK3	288	broad.mit.edu	37	chr10	61965576	61965576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagcttggatggatgcacCgtgtttcagaaggagttcca	12	8	1	1	rs139379111	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:61965576C>T	uc001jky.2	-	11	1459	c.1267G>A	c.(1267-1269)GGT>AGT	p.G423S	ANK3_uc010qih.1_Missense_Mutation_p.G406S|ANK3_uc001jkz.3_Missense_Mutation_p.G417S|ANK3_uc001jlb.1_5'UTR|ANK3_uc001jlc.1_Missense_Mutation_p.G84S	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	423	ANK 11.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						ATGGATGCACCGTGTTTCAGA	0.393													T	61965576	C	T	61965576	3	4	80	1	0	0	0	0	1	0	0	0	622	652	23	1	12331	1	ANK3	10	61965576	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	299663	61965576	73569171	609	54551											
TET1	80312	broad.mit.edu	37	chr10	70446283	70446284	+	Frame_Shift_Ins	INS	-	-	A													aggtcctggcaccccgccgcINSaaaaaaagaacgtgtttcac							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:70446283_70446284insA	uc001jok.3	+	11	5728_5729	c.5223_5224insA	c.(5221-5226)CGCAAAfs	p.R1741fs		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1741_1742					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						CACCCCGCCGCAAAAAAAGAAC	0.49													A	70446284	-	A	70446283	7	5	80	1	0	1	1	0	0	0	0	0	15766	697	25	0	5261	0	TET1	10	70446283	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	8480707	70446283	65088464	610	54552	228	2									
TET1	80312	broad.mit.edu	37	chr10	70446284	70446285	+	Frame_Shift_Ins	INS	-	-	A													ggtcctggcaccccgccgcaINSaaaaaagaacgtgtttcact							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:70446283_70446284C>CA	uc001jok.4	+	10	5728_5729	c.5223_5224C>CA	c.(5221-5226)cgcaaafs	p.R1741fs		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1741					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CACCCCGCCGCAAAAAAAGAAC	0.49													A	70446285	-	A	70446284	7	5	80	1	0	1	1	0	0	0	0	0	15766	131	5	0	5262	0	TET1	10	70446284	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	1	70446284	65088463	611	54553	228	2									
HK1	3098	broad.mit.edu	37	chr10	71128991	71128991	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaccccgttatctgtccccAggactatgatgccaacatcg	7	15	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:71128991A>G	uc001jpl.3	+	6	693	c.592_splice	c.e6-2	p.D198_splice	HK1_uc001jpg.3_Splice_Site_p.D186_splice|HK1_uc001jph.3_Splice_Site_p.D202_splice|HK1_uc001jpi.3_Splice_Site_p.D202_splice|HK1_uc001jpj.3_Splice_Site_p.D233_splice|HK1_uc001jpk.3_Splice_Site_p.D197_splice|HK1_uc009xqd.2_Splice_Site_p.D76_splice	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI						glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						ATCTGTCCCCAGGACTATGAT	0.532													G	71128991	A	G	71128991	5	3	80	1	0	0	0	0	0	0	1	0	7190	202	7	3	790	3	HK1	10	71128991	Splice_Site	SNP	A	TCGA-BR-8368-01A-11D-2340-08	682707	71128991	64405756	612	54554											
SPOCK2	9806	broad.mit.edu	37	chr10	73848012	73848012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccttgagccccttggcGtcgccttcggccagggctgc	12	18	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:73848012G>A	uc001jso.1	-	1	520	c.75C>T	c.(73-75)GAC>GAT	p.D25D	SPOCK2_uc001jsp.2_Silent_p.D25D|SPOCK2_uc010qjs.1_Silent_p.D25D|SPOCK2_uc010qjt.1_Silent_p.D25D	NM_014767	NP_055582	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	25					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding				0						GCCCCTTGGCGTCGCCTTCGG	0.692													A	73848012	G	A	73848012	2	1	80	1	0	0	0	0	0	0	0	1	15079	1136	40	1		1	SPOCK2	10	73848012	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2719021	73848012	61686735	613	54555											
PTEN	5728	broad.mit.edu	37	chr10	89717770	89717770	+	Frame_Shift_Del	DEL	A	A	-													cacaaacagaacaagatgctAaaaaaggtttgtactttact							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:89717770delA	uc001kfb.2	+	8	1826	c.795delA	c.(793-795)CTAfs	p.L265fs		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	265	C2 tensin-type.			KMLKKDK->AAGAADA: Reduces the growth suppression activity and cells show anchorage-independent growth. Reduces binding to phospholipid membranes in vitro. Phosphatase activity towards PtdIns(3,4,5)P3 is not affected.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.K267fs*9(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.D268fs*30(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACAAGATGCTAAAAAAGGTTT	0.348		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89717770	A	-	89717770	7	5	80	1	0	1	0	1	0	0	0	0	12738	349	13	0	821	0	PTEN	10	89717770	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	15869758	89717770	45816977	614	54556											
BTAF1	9044	broad.mit.edu	37	chr10	93719750	93719750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtaggttgtggcaccagttCgtgaaacttgtgctcaaaca	11	8	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:93719750C>T	uc001khr.2	+	11	1200	c.1102C>T	c.(1102-1104)CGT>TGT	p.R368C	BTAF1_uc001khs.1_Missense_Mutation_p.R38C	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	368					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				GGCACCAGTTCGTGAAACTTG	0.368													T	93719750	C	T	93719750	3	4	80	1	0	0	0	0	1	0	0	0	1536	884	31	1	1144	1	BTAF1	10	93719750	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	4001980	93719750	41814997	615	54557											
PIK3AP1	118788	broad.mit.edu	37	chr10	98469729	98469729	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacgatgaggatgtcgcatcCtctgggcacccctggacaag	13	12	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:98469729C>A	uc001kmq.2	-	2	153	c.25G>T	c.(25-27)GGA>TGA	p.G9*		NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	9						cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ATGTCGCATCCTCTGGGCACC	0.587													A	98469729	C	A	98469729	4	1	80	1	0	0	0	0	0	1	0	0	11908	690	24	5	2456	5	PIK3AP1	10	98469729	Nonsense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	4749979	98469729	37065018	616	54558											
LOXL4	84171	broad.mit.edu	37	chr10	100022589	100022589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgtggcctcctggataGcaaagttgtcatcacacacg	9	13	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:100022589G>A	uc001kpa.1	-	2	339	c.188C>T	c.(187-189)GCT>GTT	p.A63V		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4 precursor	63	SRCR 1.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			ovary(3)|breast(1)|skin(1)	5		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CTCCTGGATAGCAAAGTTGTC	0.647											OREG0020428	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	100022589	G	A	100022589	3	1	80	1	0	0	0	0	1	0	0	0	8902	971	34	2	2138	2	LOXL4	10	100022589	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1552860	100022589	35512158	617	54559											
TMEM180	79847	broad.mit.edu	37	chr10	104233735	104233735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggccagacctttgccccGctgctgggcacctggctgct	12	17	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:104233735G>A	uc001kvt.2	+	9	1476	c.1257G>A	c.(1255-1257)CCG>CCA	p.P419P	TMEM180_uc010qql.1_Silent_p.P148P|TMEM180_uc010qqm.1_Silent_p.P268P	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	transmembrane protein 180	419	Helical; (Potential).					integral to membrane				ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCTTTGCCCCGCTGCTGGGCA	0.622													A	104233735	G	A	104233735	2	1	80	1	0	0	0	0	0	0	0	1	16096	1074	38	1		1	TMEM180	10	104233735	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	4211146	104233735	31301012	618	54560											
C10orf26	54838	broad.mit.edu	37	chr10	104572451	104572451	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttccagctacagcagcagcAgctgctgcctccacagtgtg	10	15	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:104572451A>T	uc001kwe.3	+	4	652	c.392A>T	c.(391-393)CAG>CTG	p.Q131L	C10orf26_uc001kwf.3_Missense_Mutation_p.Q152L|C10orf26_uc009xxg.1_Intron	NM_017787	NP_060257	Q9NX94	OPA1L_HUMAN	hypothetical protein LOC54838 isoform 2	131	Pro-rich.					integral to membrane				central_nervous_system(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;6.14e-09)|all cancers(201;1.66e-07)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAGCAGCAGCAGCTGCTGCCT	0.607													T	104572451	A	T	104572451	3	4	80	1	0	0	0	0	1	0	0	0	1599	188	7	5	500	5	C10orf26	10	104572451	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	338716	104572451	30962296	619	54561											
SORCS3	22986	broad.mit.edu	37	chr10	106899179	106899179	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caactagtggaagagccagcTactacgtgtcttatcgaaga	10	9	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:106899179T>C	uc001kyi.1	+	8	1464	c.1237T>C	c.(1237-1239)TAC>CAC	p.Y413H		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	413	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AAGAGCCAGCTACTACGTGTC	0.483													C	106899179	T	C	106899179	3	2	80	1	0	0	0	0	1	0	0	0	14932	1522	53	3	1267	3	SORCS3	10	106899179	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	2326728	106899179	28635568	620	54562											
SMC3	9126	broad.mit.edu	37	chr10	112361533	112361533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggaaaagatgacaaatcGgcaaggcatgctattgaaga	11	6	0	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:112361533G>A	uc001kze.2	+	24	2909	c.2783G>A	c.(2782-2784)CGG>CAG	p.R928Q		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	928					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ATGACAAATCGGCAAGGCATG	0.388													A	112361533	G	A	112361533	3	1	80	1	0	0	0	0	1	0	0	0	14784	1116	39	1	2877	1	SMC3	10	112361533	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	5462354	112361533	23173214	621	54563											
ABLIM1	3983	broad.mit.edu	37	chr10	116203811	116203811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgatgggagaatcgtagCgactggctaacagagatgac	14	6	0	4	rs138272125	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:116203811C>T	uc010qsg.1	-	17	2009	c.1910G>A	c.(1909-1911)CGC>CAC	p.R637H	ABLIM1_uc010qsh.1_Missense_Mutation_p.R605H|ABLIM1_uc010qsi.1_Missense_Mutation_p.R577H|ABLIM1_uc010qsk.1_Missense_Mutation_p.R514H|ABLIM1_uc009xyp.2_Missense_Mutation_p.R601H|ABLIM1_uc010qsf.1_Missense_Mutation_p.R314H|ABLIM1_uc009xyn.2_Missense_Mutation_p.R253H|ABLIM1_uc010qsj.1_Missense_Mutation_p.R232H|ABLIM1_uc009xyo.2_Missense_Mutation_p.R450H	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	637					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AGAATCGTAGCGACTGGCTAA	0.493													T	116203811	C	T	116203811	3	4	80	1	0	0	0	0	1	0	0	0	94	768	27	1	450	1	ABLIM1	10	116203811	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3842278	116203811	19330936	622	54564											
PRLHR	2834	broad.mit.edu	37	chr10	120353838	120353838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggcgtaagggtcgatggCgtgggggtcgaggtcccgca	19	8	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:120353838C>T	uc001ldp.1	-	2	1058	c.919G>A	c.(919-921)GCC>ACC	p.A307T		NM_004248	NP_004239	P49683	PRLHR_HUMAN	G protein-coupled receptor 10	307	Extracellular (Potential).				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity				0		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GGGTCGATGGCGTGGGGGTCG	0.647													T	120353838	C	T	120353838	3	4	80	1	0	0	0	0	1	0	0	0	12530	768	27	1	197	1	PRLHR	10	120353838	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	4150027	120353838	15180909	623	54565											
TIAL1	7073	broad.mit.edu	37	chr10	121338303	121338303	+	Frame_Shift_Del	DEL	C	C	-													tggttcggatttgacgaccaCccaaccactgaccgcccata							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:121338302_121338302AC>A	uc001lei.1	-	6	1056	c.492_492GT>T	c.(490-492)ggtfs	p.G164fs	TIAL1_uc001leh.1_Frame_Shift_Del_p.G142fs|TIAL1_uc001lej.1_Frame_Shift_Del_p.G181fs|TIAL1_uc001lek.1_Frame_Shift_Del_p.G41fs|TIAL1_uc010qtb.1_Frame_Shift_Del_p.G41fs	NM_003252	NP_003243	Q01085	TIAR_HUMAN	Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein-like 1 (TIAL1), transcript variant 1, mRNA.	164	RRM 2.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		TTTGACGACCACCCAACCACT	0.398													-	121338303	C	-	121338303	7	5	80	1	0	1	0	1	0	0	0	0	15886	507	18	0	660	0	TIAL1	10	121338303	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	984465	121338303	14196444	624	54566											
BAG3	9531	broad.mit.edu	37	chr10	121431767	121431767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccctgtgtctcttgcagCggtcccagtctccagctgcc	9	17	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:121431767C>T	uc001lem.2	+	3	814	c.508C>T	c.(508-510)CGG>TGG	p.R170W	BAG3_uc001lel.2_Missense_Mutation_p.R170W	NM_004281	NP_004272	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	170					anti-apoptosis|apoptosis|protein folding	cytosol				ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		TCTCTTGCAGCGGTCCCAGTC	0.637													T	121431767	C	T	121431767	3	4	80	1	0	0	0	0	1	0	0	0	1288	782	27	1	518	1	BAG3	10	121431767	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	93464	121431767	14102980	625	54567											
C10orf119	79892	broad.mit.edu	37	chr10	121607133	121607133	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacagactcacctttcatcAttattcagtatactcagcac	3	13	5	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:121607133A>G	uc001ler.2	-	8	1117	c.819T>C	c.(817-819)AAT>AAC	p.N273N	C10orf119_uc001leq.1_Silent_p.N100N|C10orf119_uc001les.1_Silent_p.N100N|C10orf119_uc001let.1_Silent_p.N100N	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN	chromosome 10 open reading frame 119	273					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding				0		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.0044)		ACCTTTCATCATTATTCAGTA	0.264													G	121607133	A	G	121607133	2	3	80	1	0	0	0	0	0	0	0	1	1588	214	8	3		3	C10orf119	10	121607133	Silent	SNP	A	TCGA-BR-8368-01A-11D-2340-08	175366	121607133	13927614	626	54568											
PLEKHA1	59338	broad.mit.edu	37	chr10	124172489	124172489	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gataacctaagtcgccatggTgaatgtgggaaaaagcaagt	12	6	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:124172489T>C	uc001lge.1	+	6	519	c.396T>C	c.(394-396)GGT>GGC	p.G132G	PLEKHA1_uc001lgf.1_Silent_p.G132G|PLEKHA1_uc001lgg.1_Silent_p.G132G|PLEKHA1_uc001lgh.2_Silent_p.G132G	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A	132					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			kidney(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTCGCCATGGTGAATGTGGGA	0.383													C	124172489	T	C	124172489	2	2	80	1	0	0	0	0	0	0	0	1	12055	1683	59	3		3	PLEKHA1	10	124172489	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	2565356	124172489	11362258	627	54569											
PLEKHA1	59338	broad.mit.edu	37	chr10	124189146	124189146	+	Frame_Shift_Del	DEL	C	C	-													actcctttttgcaggagcatCcccccggtccttcagaatcc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:124189145_124189145TC>T	uc001lge.2	+	11	1155	c.906_906TC>T	c.(904-906)catfs	p.H302fs	PLEKHA1_uc001lgf.2_3'UTR|PLEKHA1_uc001lgg.2_Frame_Shift_Del_p.H302fs|PLEKHA1_uc021qae.1_5'Flank	NM_001001974	NP_067635	Q9HB21	PKHA1_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 (PLEKHA1), transcript variant 2, mRNA.	302					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGCAGGAGCATCCCCCCGGTC	0.502													-	124189146	C	-	124189146	7	5	80	1	0	1	0	1	0	0	0	0	12055	855	30	0	949	0	PLEKHA1	10	124189146	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	16657	124189146	11345601	628	54570											
ADAM12	8038	broad.mit.edu	37	chr10	127787041	127787041	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcatgattggggccatgcCgatggtggtcccttggaaat	14	9	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:127787041C>A	uc001ljk.2	-	10	1362	c.949G>T	c.(949-951)GGC>TGC	p.G317C	ADAM12_uc010qul.1_Missense_Mutation_p.G268C|ADAM12_uc001ljm.2_Missense_Mutation_p.G317C|ADAM12_uc001ljn.2_Missense_Mutation_p.G314C|ADAM12_uc001ljl.3_Missense_Mutation_p.G314C	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	317	Extracellular (Potential).|Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GGGGCCATGCCGATGGTGGTC	0.453													A	127787041	C	A	127787041	3	1	80	1	0	0	0	0	1	0	0	0	236	652	23	5	1944	5	ADAM12	10	127787041	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3597895	127787041	7747706	629	54571											
DOCK1	1793	broad.mit.edu	37	chr10	128904520	128904520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcactgaaatacttaccaaCgatcgtcaacgatgtgaaat	7	9	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:128904520C>T	uc001ljt.2	+	24	2472	c.2408C>T	c.(2407-2409)ACG>ATG	p.T803M	DOCK1_uc010qun.1_Missense_Mutation_p.T824M	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	803					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TACTTACCAACGATCGTCAAC	0.473													T	128904520	C	T	128904520	3	4	80	1	0	0	0	0	1	0	0	0	4684	536	19	1	2502	1	DOCK1	10	128904520	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1117479	128904520	6630227	630	54572											
MKI67	4288	broad.mit.edu	37	chr10	129901620	129901620	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgtcttctagttctggTgatgatttgcagggtatttt	13	5	3	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:129901620T>C	uc001lke.2	-	13	8679	c.8484A>G	c.(8482-8484)TCA>TCG	p.S2828S	MKI67_uc001lkf.2_Silent_p.S2468S|MKI67_uc009yav.1_Silent_p.S2403S|MKI67_uc009yaw.1_Silent_p.S1978S	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2828	16 X 122 AA approximate repeats.|16.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTAGTTCTGGTGATGATTTGC	0.483													C	129901620	T	C	129901620	2	2	80	1	0	0	0	0	0	0	0	1	9598	1683	59	3		3	MKI67	10	129901620	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	997100	129901620	5633127	631	54573											
B4GALNT4	338707	broad.mit.edu	37	chr11	379551	379551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccgagtacgtcttcctgCggctgccgggagcccgcgta	14	14	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:379551C>T	uc001lpb.2	+	15	2347	c.2338C>T	c.(2338-2340)CGG>TGG	p.R780W		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	780	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGTCTTCCTGCGGCTGCCGGG	0.751													T	379551	C	T	379551	3	4	80	1	0	0	0	0	1	0	0	0	1269	759	27	1	2396	1	B4GALNT4	11	379551	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08		379551	134626965	632	54574											
PHRF1	57661	broad.mit.edu	37	chr11	605238	605238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttggggctgctgagagcGgatattggagctgcctctct	14	9	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:605238G>A	uc001lqe.2	+	11	1403	c.1272G>A	c.(1270-1272)GCG>GCA	p.A424A	PHRF1_uc010qwc.1_Silent_p.A424A|PHRF1_uc010qwd.1_Silent_p.A423A|PHRF1_uc010qwe.1_Silent_p.A420A|PHRF1_uc009ybz.1_Silent_p.A215A|PHRF1_uc009yca.1_5'Flank	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	424							RNA polymerase binding|zinc ion binding				0						TGCTGAGAGCGGATATTGGAG	0.602													A	605238	G	A	605238	2	1	80	1	0	0	0	0	0	0	0	1	11861	1103	39	1		1	PHRF1	11	605238	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	225687	605238	134401278	633	54575											
DEAF1	10522	broad.mit.edu	37	chr11	674759	674759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggagtcgggggtgggaccGccagcgcaggcagggatgtc	21	9	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:674759G>A	uc001lqq.1	-	10	1973	c.1280C>T	c.(1279-1281)GCG>GTG	p.A427V	DEAF1_uc009ycf.1_RNA	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	427	Pro-rich.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GGGTGGGACCGCCAGCGCAGG	0.532													A	674759	G	A	674759	3	1	80	1	0	0	0	0	1	0	0	0	4380	1087	38	1	429	1	DEAF1	11	674759	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	69521	674759	134331757	634	54576											
LRDD	55367	broad.mit.edu	37	chr11	802748	802748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggcgcacaaagggggCgtctagcagctcagggggca	17	11	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:802748C>T	uc001lro.1	-	4	995	c.853G>A	c.(853-855)GCC>ACC	p.A285T	LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Missense_Mutation_p.A285T|LRDD_uc001lrl.1_Missense_Mutation_p.A139T|LRDD_uc001lrm.1_5'UTR|LRDD_uc001lrn.1_Missense_Mutation_p.A139T|LRDD_uc001lrp.1_5'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing	285	LRR 7.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAAAGGGGGCGTCTAGCAGC	0.677													T	802748	C	T	802748	3	4	80	1	0	0	0	0	1	0	0	0	8936	768	27	1	1931	1	LRDD	11	802748	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	127989	802748	134203768	635	54577											
CTSD	1509	broad.mit.edu	37	chr11	1778593	1778593	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgttctggtccaccagcTtctgctgcatcaggttgtcg	11	11	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:1778593T>C	uc001luc.1	-	5	798	c.665A>G	c.(664-666)AAG>AGG	p.K222R	CTSD_uc009yda.1_RNA	NM_001909	NP_001900	P07339	CATD_HUMAN	cathepsin D preproprotein	222					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity				0		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTCCACCAGCTTCTGCTGCAT	0.627													C	1778593	T	C	1778593	3	2	80	1	0	0	0	0	1	0	0	0	4032	1609	56	3	593	3	CTSD	11	1778593	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	975845	1778593	133227923	636	54578											
OR52D1	390066	broad.mit.edu	37	chr11	5510100	5510100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcctggtcattgccatggAcaatgctcttcatgcaccta	7	13	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:5510100A>G	uc010qzg.1	+	1	164	c.164A>G	c.(163-165)GAC>GGC	p.D55G	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D,	55	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTGCCATGGACAATGCTCTT	0.527													G	5510100	A	G	5510100	3	3	80	1	0	0	0	0	1	0	0	0	11114	275	10	3	166	3	OR52D1	11	5510100	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	3731507	5510100	129496416	637	54579											
PRKCDBP	112464	broad.mit.edu	37	chr11	6340571	6340571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcttgaccggggtgggcGgtggcgctgcagggcctttc	20	11	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:6340571G>A	uc001mcu.1	-	2	642	c.608C>T	c.(607-609)CCG>CTG	p.P203L		NM_145040	NP_659477	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	203											0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGGGTGGGCGGTGGCGCTGC	0.731													A	6340571	G	A	6340571	3	1	80	1	0	0	0	0	1	0	0	0	12510	1116	39	1	181	1	PRKCDBP	11	6340571	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	830471	6340571	128665945	638	54580											
HPX	3263	broad.mit.edu	37	chr11	6461701	6461701	+	Frame_Shift_Del	DEL	A	A	-													cctcagtccctcctacctttAaaaaacagcatggttccatt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:6461701delA	uc001mdg.2	-	3	271	c.210delT	c.(208-210)TTTfs	p.F70fs	HPX_uc001mdf.2_5'Flank|HPX_uc009yfc.2_RNA|HPX_uc010rai.1_Frame_Shift_Del_p.F70fs	NM_000613	NP_000604	P02790	HEMO_HUMAN	hemopexin precursor	70	Hemopexin-like 1.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TCCTACCTTTAAAAAACAGCA	0.488													-	6461701	A	-	6461701	7	5	80	1	0	1	0	1	0	0	0	0	7346	359	13	0	1210	0	HPX	11	6461701	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	121130	6461701	128544815	639	54581											
TEAD1	7003	broad.mit.edu	37	chr11	12785940	12785940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctatctatccaccatgtgGgaggaggaaaatcatcttat	10	8	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:12785940G>A	uc001mkj.3	+	3	781	c.116G>A	c.(115-117)GGG>GAG	p.G39E		NM_021961	NP_068780	P28347	TEAD1_HUMAN	TEA domain family member 1	54	TEA.				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCACCATGTGGGAGGAGGAAA	0.488													A	12785940	G	A	12785940	3	1	80	1	0	0	0	0	1	0	0	0	15735	1232	43	4	163	4	TEAD1	11	12785940	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	6324239	12785940	122220576	640	54582											
COPB1	1315	broad.mit.edu	37	chr11	14501184	14501184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattctcaggttatcaaagCgctgaatggcttcacgaaca	9	10	3	1	rs145451352		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:14501184C>T	uc001mli.2	-	11	1596	c.1289G>A	c.(1288-1290)CGC>CAC	p.R430H	COPB1_uc001mlg.2_Missense_Mutation_p.R430H|COPB1_uc001mlh.2_Missense_Mutation_p.R430H	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	430	HEAT 6.				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2						GTTATCAAAGCGCTGAATGGC	0.343													T	14501184	C	T	14501184	3	4	80	1	0	0	0	0	1	0	0	0	3728	768	27	1	1620	1	COPB1	11	14501184	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1715244	14501184	120505332	641	54583											
COPB1	1315	broad.mit.edu	37	chr11	14510133	14510133	+	Splice_Site	DEL	A	A	-													gtaatccaaagctcgatcctAaaaaaaataagaatatattt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:14510132_14510132TA>T	uc001mlh.2	-	6	853	c.607_splice	c.e6-1	p.D203_splice	COPB1_uc001mli.2_Splice_Site_p.D203_splice|COPB1_uc001mlg.2_Splice_Site_p.D203_splice	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	203					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AGCTCGATCCTAAAAAAAATA	0.294													-	14510133	A	-	14510133	8	5	80	1	0	1	0	1	0	0	1	0	3728	377	13	0		0	COPB1	11	14510133	Splice_Site	DEL	A	TCGA-BR-8368-01A-11D-2340-08	8949	14510133	120496383	642	54584											
LDHA	3939	broad.mit.edu	37	chr11	18418442	18418442	+	Frame_Shift_Del	DEL	C	C	-													tcttctaaaggaagaacagaCcccccagaataagattacag							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:18418442delC	uc001mok.3	+	2	325	c.53delC	c.(52-54)ACCfs	p.T18fs	LDHA_uc010rdc.1_Frame_Shift_Del_p.T18fs|LDHA_uc009yhn.2_Frame_Shift_Del_p.T18fs|LDHA_uc009yho.2_5'UTR|LDHA_uc001mol.3_Frame_Shift_Del_p.T18fs|LDHA_uc010rdd.1_Frame_Shift_Del_p.T47fs	NM_005566	NP_005557	P00338	LDHA_HUMAN	lactate dehydrogenase A isoform 1	18					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)	3					NADH(DB00157)	GAAGAACAGACCCCCCAGAAT	0.418													-	18418442	C	-	18418442	7	5	80	1	0	1	0	1	0	0	0	0	8698	507	18	0	146	0	LDHA	11	18418442	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	3908309	18418442	116588074	643	54585											
SPTY2D1	144108	broad.mit.edu	37	chr11	18638501	18638502	+	Frame_Shift_Ins	INS	-	-	T													cacctttaacttttgggtctINSttttttggaggccccactgc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:18638500_18638501C>CT	uc001moy.3	-	1	312_313	c.96_97G>AG	c.(94-99)aaagacfs	p.K32fs	SPTY2D1_uc010rdi.1_Frame_Shift_Ins_p.K32fs	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.	32										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						ACTTTTGGGTCTTTTTTTGGAG	0.347													T	18638502	-	T	18638501	7	5	80	1	0	1	1	0	0	0	0	0	15125	1606	56	0	1981	0	SPTY2D1	11	18638501	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	220059	18638501	116368015	644	54586											
LUZP2	338645	broad.mit.edu	37	chr11	24998139	24998139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatctcttattttacaggcGcagcagcttactgatctgga	8	9	2	1	rs148359334		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:24998139G>A	uc001mqs.2	+	8	759	c.525G>A	c.(523-525)GCG>GCA	p.A175A	LUZP2_uc009yif.2_Silent_p.A89A|LUZP2_uc009yig.2_Silent_p.A133A	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2 precursor	175	Potential.|Leucine-zipper.					extracellular region		p.A175G(1)		ovary(1)|skin(1)	2						TTTTACAGGCGCAGCAGCTTA	0.358													A	24998139	G	A	24998139	2	1	80	1	0	0	0	0	0	0	0	1	9087	1074	38	1		1	LUZP2	11	24998139	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	6359638	24998139	110008377	645	54587											
DCDC1	341019	broad.mit.edu	37	chr11	31327259	31327259	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcgagggcttccttgccGtctgccaagaacactcgtct	11	13	2	1	rs147472755		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:31327259G>A	uc001msv.2	-	6	859	c.657C>T	c.(655-657)GAC>GAT	p.D219D	DCDC1_uc001msu.1_Translation_Start_Site	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	219	Doublecortin.				intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					CTTCCTTGCCGTCTGCCAAGA	0.438													A	31327259	G	A	31327259	2	1	80	1	0	0	0	0	0	0	0	1	4284	1136	40	1		1	DCDC1	11	31327259	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	6329120	31327259	103679257	646	54588											
HIPK3	10114	broad.mit.edu	37	chr11	33373380	33373380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaatgccgatgagcatatgGcaaacacaggtaagttgagt	11	6	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:33373380G>A	uc001mul.1	+	15	3304	c.3034G>A	c.(3034-3036)GCA>ACA	p.A1012T	HIPK3_uc001mum.1_Missense_Mutation_p.A991T|HIPK3_uc009yjv.1_Missense_Mutation_p.A991T	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	1012					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						TGAGCATATGGCAAACACAGG	0.438													A	33373380	G	A	33373380	3	1	80	1	0	0	0	0	1	0	0	0	7118	1203	42	2	3088	2	HIPK3	11	33373380	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2046121	33373380	101633136	647	54589											
ALX4	60529	broad.mit.edu	37	chr11	44331484	44331484	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgacaggaaagttgtgccGaacttgtcgcctccgggaaa	13	11	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:44331484G>A	uc001myb.2	-	1	233	c.129C>T	c.(127-129)TTC>TTT	p.F43F		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	43					hair follicle development						0						AAGTTGTGCCGAACTTGTCGC	0.682													A	44331484	G	A	44331484	2	1	80	1	0	0	0	0	0	0	0	1	558	1049	37	1		1	ALX4	11	44331484	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	10958104	44331484	90675032	648	54590											
LRP4	4038	broad.mit.edu	37	chr11	46907918	46907918	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggccctgctgatggtatcAgtgctgacatctgtccagta	11	10	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:46907918A>G	uc001ndn.3	-	17	2528	c.2382T>C	c.(2380-2382)ACT>ACC	p.T794T		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	794	Extracellular (Potential).|LDL-receptor class B 6.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		TGATGGTATCAGTGCTGACAT	0.597													G	46907918	A	G	46907918	2	3	80	1	0	0	0	0	0	0	0	1	8959	175	7	3		3	LRP4	11	46907918	Silent	SNP	A	TCGA-BR-8368-01A-11D-2340-08	2576434	46907918	88098598	649	54591											
KBTBD4	55709	broad.mit.edu	37	chr11	47598987	47598987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgatatctgtgagtaagcGgtggggcaagtggagaaatt	16	3	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:47598987G>A	uc001nfx.2	-	2	736	c.565C>T	c.(565-567)CGC>TGC	p.R189C	NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Missense_Mutation_p.R214C|KBTBD4_uc001nfz.2_Missense_Mutation_p.R205C|KBTBD4_uc001nfy.2_Missense_Mutation_p.R189C|NDUFS3_uc010rhn.1_5'Flank|NDUFS3_uc001nga.2_5'Flank	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	189	BACK.									ovary(1)|central_nervous_system(1)	2						GTGAGTAAGCGGTGGGGCAAG	0.502													A	47598987	G	A	47598987	3	1	80	1	0	0	0	0	1	0	0	0	7995	1116	39	1	1003	1	KBTBD4	11	47598987	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	691069	47598987	87407529	650	54592											
OR5L1	219437	broad.mit.edu	37	chr11	55579083	55579083	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaacctgggcatgattgcActgattcaggtcagctctcg	11	12	3	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:55579083A>G	uc001nhw.1	+	1	141	c.141A>G	c.(139-141)GCA>GCG	p.A47A		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	47	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)				GCATGATTGCACTGATTCAGG	0.483													G	55579083	A	G	55579083	2	3	80	1	0	0	0	0	0	0	0	1	11170	146	6	3		3	OR5L1	11	55579083	Silent	SNP	A	TCGA-BR-8368-01A-11D-2340-08	7980096	55579083	79427433	651	54593											
OR8I2	120586	broad.mit.edu	37	chr11	55861366	55861366	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgtagatacattcggcacaGaaatggtgagctttgtctta	11	6	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:55861366G>A	uc010rix.1	+	1	583	c.583G>A	c.(583-585)GAA>AAA	p.E195K		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	195	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					ATTCGGCACAGAAATGGTGAG	0.428													A	55861366	G	A	55861366	3	1	80	1	0	0	0	0	1	0	0	0	11240	943	33	4	585	4	OR8I2	11	55861366	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	282283	55861366	79145150	652	54594											
MED19	219541	broad.mit.edu	37	chr11	57472193	57472193	+	Splice_Site	DEL	G	G	-													aatagaactgcttcttacctGgggggacaggatcctgggta							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:57472192_57472192TG>T	uc001nla.1	-	3	593	c.571_splice	c.e3+1	p.E191_splice	MED19_uc001nlb.3_Splice_Site_p.G191_splice	NM_153450	NP_703151	A0JLT2	MED19_HUMAN	Homo sapiens mediator complex subunit 19 (MED19), mRNA.	191	Lys-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				cervix(1)|large_intestine(1)|lung(1)|ovary(2)	5						GCTTCTTACCTGGGGGGACAG	0.418													-	57472193	G	-	57472193	8	5	80	1	0	1	0	1	0	0	1	0	9437	1348	47	0	23	0	MED19	11	57472193	Splice_Site	DEL	G	TCGA-BR-8368-01A-11D-2340-08	1610827	57472193	77534323	653	54595											
DTX4	23220	broad.mit.edu	37	chr11	58949756	58949756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcgaggcccactgaagacCgccccatcgcaggtgatccg	11	15	0	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:58949756C>T	uc001nns.2	+	2	1013	c.756C>T	c.(754-756)ACC>ACT	p.T252T	DTX4_uc001nnr.2_Silent_p.T146T	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	252					Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)				CACTGAAGACCGCCCCATCGC	0.637													T	58949756	C	T	58949756	2	4	80	1	0	0	0	0	0	0	0	1	4797	639	23	1		1	DTX4	11	58949756	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1477563	58949756	76056760	654	54596											
AHNAK	79026	broad.mit.edu	37	chr11	62291883	62291883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaagcttaggaccggaaaCgtccacttctgggcccttta	9	11	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:62291883C>T	uc001ntl.2	-	5	10306	c.10006G>A	c.(10006-10008)GTT>ATT	p.V3336I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3336					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GGACCGGAAACGTCCACTTCT	0.433													T	62291883	C	T	62291883	3	4	80	1	0	0	0	0	1	0	0	0	414	536	19	1	7786	1	AHNAK	11	62291883	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3342127	62291883	72714633	655	54597											
TUT1	64852	broad.mit.edu	37	chr11	62343652	62343652	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgcctgaccctcccgcagGgacagcagggagccacgaag	14	14	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:62343652G>T	uc001nto.2	-	9	1691	c.1653C>A	c.(1651-1653)TCC>TCA	p.S551S	EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank|TUT1_uc001ntp.1_Silent_p.S47S	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	513	PAP-associated.				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2						CCTCCCGCAGGGACAGCAGGG	0.617													T	62343652	G	T	62343652	2	4	80	1	0	0	0	0	0	0	0	1	16777	1219	43	5		5	TUT1	11	62343652	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	51769	62343652	72662864	656	54598											
UBXN1	51035	broad.mit.edu	37	chr11	62445075	62445075	+	Frame_Shift_Del	DEL	G	G	-													gacctggctctggtgccactGggggtggctgagagcccaca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:62445075delG	uc001nul.1	-	7	698	c.566delC	c.(565-567)CCAfs	p.P189fs	UBXN1_uc001nuj.2_Frame_Shift_Del_p.P189fs|UBXN1_uc001num.1_Frame_Shift_Del_p.P185fs|UBXN1_uc001nuk.2_3'UTR|UBXN1_uc010rme.1_3'UTR	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	UBX domain protein 1	189	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding				0						TGGTGCCACTGGGGGTGGCTG	0.532													-	62445075	G	-	62445075	7	5	80	1	0	1	0	1	0	0	0	0	16908	1348	47	0	380	0	UBXN1	11	62445075	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	101423	62445075	72561441	657	54599											
NRXN2	9379	broad.mit.edu	37	chr11	64410147	64410147	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctcggccgcccccagcagCaacagcagcaacagcggcaa	10	19	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:64410147C>A	uc001oap.2	-	2	640	c.129G>T	c.(127-129)TTG>TTT	p.L43F	NRXN2_uc001oar.2_Intron|NRXN2_uc001oas.2_Intron|NRXN2_uc001oaq.2_Intron	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	43					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						CCCCcagcagcaacagcagca	0.388													A	64410147	C	A	64410147	3	1	80	1	0	0	0	0	1	0	0	0	10666	709	25	5	1899	5	NRXN2	11	64410147	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1965072	64410147	70596369	658	54600											
ATG2A	23130	broad.mit.edu	37	chr11	64681811	64681811	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctcgccctgccctcaccTggaccccggcggggctgcaa	12	19	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:64681811T>C	uc001obx.2	-	2	448	c.333A>G	c.(331-333)CCA>CCG	p.P111P	ATG2A_uc010rnt.1_Silent_p.P111P	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	111							protein binding			ovary(1)|central_nervous_system(1)	2						TGCCCTCACCTGGACCCCGGC	0.706													C	64681811	T	C	64681811	2	2	80	1	0	0	0	0	0	0	0	1	1093	1594	55	3		3	ATG2A	11	64681811	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	271664	64681811	70324705	659	54601											
PPP2R5B	5526	broad.mit.edu	37	chr11	64699315	64699315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttttaagcaggtggctcGctgtgtttccagcccccatt	9	13	0	0	rs141499148		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:64699315G>A	uc001oby.2	+	11	1676	c.1091G>A	c.(1090-1092)CGC>CAC	p.R364H	PPP2R5B_uc001obz.2_Missense_Mutation_p.R364H	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	364					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2						CAGGTGGCTCGCTGTGTTTCC	0.557													A	64699315	G	A	64699315	3	1	80	1	0	0	0	0	1	0	0	0	12393	1087	38	1	1129	1	PPP2R5B	11	64699315	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	17504	64699315	70307201	660	54602											
EFEMP2	30008	broad.mit.edu	37	chr11	65637701	65637701	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtagcggtagcggcactcGtctatgtctagggatagagg	15	8	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:65637701G>A	uc001ofy.3	-	6	692	c.498C>T	c.(496-498)GAC>GAT	p.D166D	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Silent_p.D166D	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	166	EGF-like 3; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		AGCGGCACTCGTCTATGTCTA	0.657													A	65637701	G	A	65637701	2	1	80	1	0	0	0	0	0	0	0	1	4942	1136	40	1		1	EFEMP2	11	65637701	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	938386	65637701	69368815	661	54603											
KDM2A	22992	broad.mit.edu	37	chr11	66999252	66999252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgactgtagccggggctccCacaatggacaagtgtgggat	14	10	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:66999252C>T	uc001ojw.2	+	12	2164	c.1300C>T	c.(1300-1302)CAC>TAC	p.H434Y	KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.H128Y	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						CCGGGGCTCCCACAATGGACA	0.522													T	66999252	C	T	66999252	3	4	80	1	0	0	0	0	1	0	0	0	8124	594	21	4	1342	4	KDM2A	11	66999252	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1361551	66999252	68007264	662	54604											
ANKRD13D	338692	broad.mit.edu	37	chr11	67066574	67066575	+	Frame_Shift_Del	DEL	TG	TG	-													cggtctgagaagatggaaacTgttagcggctacgaggccaa							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:67066574_67066575delTG	uc001okc.1	+	8	1027_1028	c.516_517delTG	c.(514-519)ACTGTTfs	p.T172fs	ANKRD13D_uc001okd.1_Frame_Shift_Del_p.T259fs|ANKRD13D_uc001oke.1_Frame_Shift_Del_p.T172fs|ANKRD13D_uc001okg.1_5'UTR|ANKRD13D_uc001okh.1_5'UTR|ANKRD13D_uc001oki.1_5'Flank	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	172_173										ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AGATGGAAACTGTTAGCGGCTA	0.584													-	67066575	TG	-	67066574	7	5	80	1	0	1	0	1	0	0	0	0	644	1567	55	0	803	0	ANKRD13D	11	67066574	Frame_Shift_Del	DEL	TG	TCGA-BR-8368-01A-11D-2340-08	67322	67066574	67939942	663	54605											
SSH3	54961	broad.mit.edu	37	chr11	67076990	67076990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccgcactggaaggagaCgcaccgcttcattgaggctg	14	12	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:67076990C>T	uc001okj.2	+	11	1362	c.1184C>T	c.(1183-1185)ACG>ATG	p.T395M	SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Missense_Mutation_p.T249M	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3	395	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGGAAGGAGACGCACCGCTTC	0.637													T	67076990	C	T	67076990	3	4	80	1	0	0	0	0	1	0	0	0	15185	536	19	1	1226	1	SSH3	11	67076990	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	10416	67076990	67929526	664	54606											
LRP5	4041	broad.mit.edu	37	chr11	68216313	68216313	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatggcgcccccgacgacGccctgcagcaccgacgtgtg	14	16	0	0	rs139974816	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:68216313G>A	uc001ont.2	+	23	4698	c.4623G>A	c.(4621-4623)ACG>ACA	p.T1541T	LRP5_uc009ysg.2_Silent_p.T951T	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1541	PPPSP motif B.|Cytoplasmic (Potential).|Pro-rich.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CCCCGACGACGCCCTGCAGCA	0.612													A	68216313	G	A	68216313	2	1	80	1	0	0	0	0	0	0	0	1	8960	1074	38	1		1	LRP5	11	68216313	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1139323	68216313	66790203	665	54607											
CPT1A	1374	broad.mit.edu	37	chr11	68579964	68579964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgaggggtcgatcttggcGtacatcgttgtcatcacgcc	12	11	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:68579964G>A	uc001oog.3	-	3	392	c.222C>T	c.(220-222)TAC>TAT	p.Y74Y	CPT1A_uc001oof.3_Silent_p.Y74Y|CPT1A_uc009ysj.2_Silent_p.Y74Y	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	74	Mitochondrial intermembrane (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CGATCTTGGCGTACATCGTTG	0.512													A	68579964	G	A	68579964	2	1	80	1	0	0	0	0	0	0	0	1	3831	1140	40	1		1	CPT1A	11	68579964	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	363651	68579964	66426552	666	54608											
P2RY2	5029	broad.mit.edu	37	chr11	72945613	72945613	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggtgtctgggcgtcttaCgacctctgcgctccctgcgc	12	16	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:72945613C>T	uc001otj.2	+	3	742	c.409C>T	c.(409-411)CGA>TGA	p.R137*	P2RY2_uc001otk.2_Nonsense_Mutation_p.R137*|P2RY2_uc001otl.2_Nonsense_Mutation_p.R137*	NM_002564	NP_002555	P41231	P2RY2_HUMAN	purinergic receptor P2Y2	137	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R137Q(1)		ovary(2)|lung(1)|skin(1)	4					Suramin(DB04786)	GGGCGTCTTACGACCTCTGCG	0.672													T	72945613	C	T	72945613	4	4	80	1	0	0	0	0	0	1	0	0	11352	528	19	1	411	1	P2RY2	11	72945613	Nonsense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	4365649	72945613	62060903	667	54609											
ARHGEF17	9828	broad.mit.edu	37	chr11	73021527	73021528	+	Frame_Shift_Ins	INS	-	-	C													caagatgatggaagcgatgcINScccccctggaagccctgact							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:73021526_73021527G>GC	uc001otu.3	+	0	1864_1865	c.1843_1844G>GC	c.(1843-1845)gccfs	p.A615fs		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	615					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGGAAGCGATGCCCCCCCTGGA	0.614													C	73021528	-	C	73021527	7	5	80	1	0	1	1	0	0	0	0	0	900	739	26	0	1846	0	ARHGEF17	11	73021527	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	75914	73021527	61984989	668	54610											
ARHGEF17	9828	broad.mit.edu	37	chr11	73073593	73073593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacgctcgcggagccggggCcgcagccctgccttcacatc	13	18	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:73073593C>T	uc001otu.2	+	14	4831	c.4810C>T	c.(4810-4812)CCG>TCG	p.P1604S		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1604					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						GGAGCCGGGGCCGCAGCCCTG	0.721													T	73073593	C	T	73073593	3	4	80	1	0	0	0	0	1	0	0	0	900	739	26	2	4864	2	ARHGEF17	11	73073593	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	52066	73073593	61932923	669	54611											
C2CD3	26005	broad.mit.edu	37	chr11	73760408	73760408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgaggtctccactccacGccttgcttgcctttcttctt	6	14	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:73760408G>A	uc001ouu.2	-	27	5562	c.5335C>T	c.(5335-5337)CGT>TGT	p.R1779C	C2CD3_uc001out.2_RNA	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1779						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					TCCACTCCACGCCTTGCTTGC	0.438													A	73760408	G	A	73760408	3	1	80	1	0	0	0	0	1	0	0	0	2154	1087	38	1	576	1	C2CD3	11	73760408	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	686815	73760408	61246108	670	54612											
DLG2	1740	broad.mit.edu	37	chr11	83673939	83673939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatctgacctggtgtagtcGtcgtcaacaagcatgtgctt	10	9	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:83673939G>A	uc001paj.2	-	9	1317	c.1014C>T	c.(1012-1014)GAC>GAT	p.D338D	DLG2_uc001pai.2_Silent_p.D287D|DLG2_uc010rsy.1_Silent_p.D305D|DLG2_uc010rsz.1_Silent_p.D338D|DLG2_uc010rta.1_Silent_p.D338D|DLG2_uc001pak.2_Silent_p.D443D|DLG2_uc010rtb.1_Silent_p.D305D|DLG2_uc001pal.1_Silent_p.D338D|DLG2_uc001pam.1_Silent_p.D377D	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	338						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGGTGTAGTCGTCGTCAACAA	0.428													A	83673939	G	A	83673939	2	1	80	1	0	0	0	0	0	0	0	1	4555	1136	40	1		1	DLG2	11	83673939	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	9913531	83673939	51332577	671	54613											
DLG2	1740	broad.mit.edu	37	chr11	84996295	84996295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgaagtctgtcatggcacGgagcaagaagggatgtcttc	13	7	3	2	rs148579957		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:84996295G>A	uc001pak.2	-	4	467	c.155C>T	c.(154-156)CCG>CTG	p.P52L		NM_001142699	NP_001136171	Q15700	DLG2_HUMAN	chapsyn-110 isoform 1	Error:Variant_position_missing_in_Q15700_after_alignment						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTCATGGCACGGAGCAAGAAG	0.378													A	84996295	G	A	84996295	3	1	80	1	0	0	0	0	1	0	0	0	4555	1116	39	1	3077	1	DLG2	11	84996295	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1322356	84996295	50010221	672	54614											
SYTL2	54843	broad.mit.edu	37	chr11	85468672	85468673	+	Frame_Shift_Del	DEL	CT	CT	-													ttctctggcctcttacctgaCtctctcttcttcggccctct							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:85468671_85468672ACT>A	uc010rth.2	-	0	486_487	c.97_98AGT>T	c.(97-99)gtcfs	p.V33fs	SYTL2_uc010rtg.2_Frame_Shift_Del_p.V33fs|SYTL2_uc010rti.2_Frame_Shift_Del_p.V33fs|SYTL2_uc010rtj.2_Intron|SYTL2_uc001pbf.4_Frame_Shift_Del_p.V33fs	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	33	RabBD.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTCTTACCTGACTCTCTCTTCT	0.475													-	85468673	CT	-	85468672	7	5	80	1	0	1	0	1	0	0	0	0	15480	565	20	0	5263	0	SYTL2	11	85468672	Frame_Shift_Del	DEL	CT	TCGA-BR-8368-01A-11D-2340-08	472377	85468672	49537844	673	54615											
FZD4	8322	broad.mit.edu	37	chr11	86662986	86662986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccggcctacagtcagcctgAcaatataagcaatgctataa	7	12	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:86662986A>G	uc001pce.2	-	2	1118	c.812T>C	c.(811-813)GTC>GCC	p.V271A	PRSS23_uc001pcc.1_RNA	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	frizzled 4 precursor	271	Helical; Name=2; (Potential).				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGTCAGCCTGACAATATAAGC	0.428													G	86662986	A	G	86662986	3	3	80	1	0	0	0	0	1	0	0	0	6132	275	10	3	805	3	FZD4	11	86662986	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	1194314	86662986	48343530	674	54616											
FAT3	120114	broad.mit.edu	37	chr11	92257897	92257897	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcgttgttccactctactcCaccattgaggtctacattga	8	12	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:92257897C>A	uc001pdj.3	+	2	3407	c.3390C>A	c.(3388-3390)TCC>TCA	p.S1130S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1130	Cadherin 10.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CACTCTACTCCACCATTGAGG	0.483										TCGA Ovarian(4;0.039)			A	92257897	C	A	92257897	2	1	80	1	0	0	0	0	0	0	0	1	5691	581	21	5		5	FAT3	11	92257897	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	5594911	92257897	42748619	675	54617											
PANX1	24145	broad.mit.edu	37	chr11	93912967	93912967	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgagtttgtgtgcagcatcAaatcagggatcctgagaaac	11	8	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:93912967A>G	uc001per.2	+	4	1130	c.745A>G	c.(745-747)AAA>GAA	p.K249E	PANX1_uc001peq.2_Missense_Mutation_p.K249E	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	pannexin 1	249	Extracellular (Potential).				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTGCAGCATCAAATCAGGGAT	0.498													G	93912967	A	G	93912967	3	3	80	1	0	0	0	0	1	0	0	0	11420	131	5	3	759	3	PANX1	11	93912967	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	1655070	93912967	41093549	676	54618											
GUCY1A2	2977	broad.mit.edu	37	chr11	106681137	106681137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccaacttgtccacacatGgagagcccaaaaataaaatg	6	11	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:106681137G>A	uc001pjg.1	-	5	1664	c.1274C>T	c.(1273-1275)CCA>CTA	p.P425L	GUCY1A2_uc010rvo.1_Missense_Mutation_p.P446L|GUCY1A2_uc009yxn.1_Missense_Mutation_p.P425L	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	425					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GTCCACACATGGAGAGCCCAA	0.433													A	106681137	G	A	106681137	3	1	80	1	0	0	0	0	1	0	0	0	6893	1348	47	4	940	4	GUCY1A2	11	106681137	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	12768170	106681137	28325379	677	54619											
ATM	472	broad.mit.edu	37	chr11	108178656	108178656	+	Frame_Shift_Del	DEL	A	A	-													ttttccgatgctgtttggatAaaaaatcacaaagaacaatg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:108178656delA	uc001pkb.1	+	38	6092	c.5707delA	c.(5707-5709)AAAfs	p.K1903fs	ATM_uc009yxr.1_Frame_Shift_Del_p.K1903fs|ATM_uc001pke.1_Frame_Shift_Del_p.K555fs|ATM_uc001pkg.1_Frame_Shift_Del_p.K260fs|ATM_uc009yxt.1_Intron	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1903					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTGTTTGGATAAAAAATCACA	0.388			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			-	108178656	A	-	108178656	7	5	80	1	0	1	0	1	0	0	0	0	1109	363	13	0	5853	0	ATM	11	108178656	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	1497519	108178656	26827860	678	54620											
EXPH5	23086	broad.mit.edu	37	chr11	108409862	108409862	+	Frame_Shift_Del	DEL	T	T	-													gggaagaaaaaggtgtcggcTttttttgattagttacattt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:108409861_108409861CT>C	uc001pkk.3	-	2	444	c.333_333AG>G	c.(331-333)aagfs	p.K111fs	EXPH5_uc010rvz.2_5'Flank|EXPH5_uc010rvy.2_5'Flank	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	111					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAGGTGTCGGCTTTTTTTGAT	0.353													-	108409862	T	-	108409862	7	5	80	1	0	1	0	1	0	0	0	0	5322	1609	56	0	5653	0	EXPH5	11	108409862	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	231206	108409862	26596654	679	54621											
CADM1	23705	broad.mit.edu	37	chr11	115102133	115102133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggcttgctggccatagCagtgcagttgacttcaatct	12	10	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:115102133C>T	uc001ppi.3	-	4	631	c.502G>A	c.(502-504)GCT>ACT	p.A168T	CADM1_uc001ppf.3_Missense_Mutation_p.A168T|CADM1_uc001ppk.3_Missense_Mutation_p.A168T|CADM1_uc001ppj.3_Missense_Mutation_p.A168T|CADM1_uc001ppl.2_Missense_Mutation_p.A168T	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	168	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			ovary(2)	2	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CTGGCCATAGCAGTGCAGTTG	0.463													T	115102133	C	T	115102133	3	4	80	1	0	0	0	0	1	0	0	0	2566	710	25	2	854	2	CADM1	11	115102133	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	6692271	115102133	19904383	680	54622											
RNF214	257160	broad.mit.edu	37	chr11	117152789	117152789	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttcctcaccccttcctggCtcccatggcagaaatagccc	6	19	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:117152789C>A	uc001pqt.2	+	11	1560	c.1515C>A	c.(1513-1515)GGC>GGA	p.G505G	RNF214_uc001pqu.2_Silent_p.G505G|RNF214_uc010rxf.1_Silent_p.G350G	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	ring finger protein 214	505	Pro-rich.						zinc ion binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		CCCTTCCTGGCTCCCATGGCA	0.642													A	117152789	C	A	117152789	2	1	80	1	0	0	0	0	0	0	0	1	13478	784	28	5		5	RNF214	11	117152789	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2050656	117152789	17853727	681	54623											
NLRX1	79671	broad.mit.edu	37	chr11	119053036	119053036	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagagctgcccgggagcaccCttccctggaactgctacagt	11	15	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:119053036C>A	uc001pvu.2	+	9	2803	c.2588C>A	c.(2587-2589)CCT>CAT	p.P863H	NLRX1_uc001pvv.2_Missense_Mutation_p.P863H|NLRX1_uc001pvw.2_Missense_Mutation_p.P863H|NLRX1_uc001pvx.2_Missense_Mutation_p.P863H	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	863	LRR 7.|Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CGGGAGCACCCTTCCCTGGAA	0.637													A	119053036	C	A	119053036	3	1	80	1	0	0	0	0	1	0	0	0	10485	681	24	5	2618	5	NLRX1	11	119053036	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1900247	119053036	15953480	682	54624											
USP2	9099	broad.mit.edu	37	chr11	119243862	119243862	+	Frame_Shift_Del	DEL	C	C	-													ctccataagggaatccgctgCccccgctgaggccactgcct							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:119243861_119243861GC>G	uc001pwm.4	-	1	625	c.330_330GC>C	c.(328-330)ggcfs	p.G110fs	USP2_uc001pwn.4_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	110	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GGAATCCGCTGCCCCCGCTGA	0.627													-	119243862	C	-	119243862	7	5	80	1	0	1	0	1	0	0	0	0	17048	739	26	0	1687	0	USP2	11	119243862	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	190826	119243862	15762654	683	54625											
USP2	9099	broad.mit.edu	37	chr11	119243941	119243941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttaccacccccagtgatgtCgggtctcagcagggggcggc	14	14	1	1	rs113893557		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:119243941C>T	uc001pwm.3	-	2	545	c.250G>A	c.(250-252)GAC>AAC	p.D84N	USP2_uc001pwn.3_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	84	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CCAGTGATGTCGGGTCTCAGC	0.662													T	119243941	C	T	119243941	3	4	80	1	0	0	0	0	1	0	0	0	17048	884	31	1	1766	1	USP2	11	119243941	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	79	119243941	15762575	684	54626											
SORL1	6653	broad.mit.edu	37	chr11	121367679	121367679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagatttcttccagtcccGggaaaaccaggaagtgatcc	9	11	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:121367679G>A	uc001pxx.2	+	6	940	c.860G>A	c.(859-861)CGG>CAG	p.R287Q		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	287	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTCCAGTCCCGGGAAAACCAG	0.438													A	121367679	G	A	121367679	3	1	80	1	0	0	0	0	1	0	0	0	14934	1116	39	1	882	1	SORL1	11	121367679	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2123738	121367679	13638837	685	54627											
BSX	390259	broad.mit.edu	37	chr11	122849972	122849972	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctcctcccgcccacctgCgtctcggacaggctgagggc	11	19	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:122849972C>T	uc010rzs.1	-	2	456	c.456G>A	c.(454-456)ACG>ACA	p.T152T		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	brain specific homeobox	152	Homeobox.										0		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CGCCCACCTGCGTCTCGGACA	0.592													T	122849972	C	T	122849972	2	4	80	1	0	0	0	0	0	0	0	1	1535	755	27	1		1	BSX	11	122849972	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1482293	122849972	12156544	686	54628											
ROBO3	64221	broad.mit.edu	37	chr11	124748274	124748276	+	In_Frame_Del	DEL	CCT	CCT	-													ggccagaagccctgcccccaCctcctccttcttgtgaactg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:124748273_124748275ACCT>A	uc001qbc.3	+	21	3430_3432	c.3261_3263ACCT>A	c.(3259-3264)ccacct>ccAt	p.1087_1088PP>P	ROBO3_uc010saq.2_3'UTR|ROBO3_uc001qbd.2_In_Frame_Del_p.12_13PP>P|ROBO3_uc010sar.2_In_Frame_Del_p.136_137PP>P|ROBO3_uc001qbe.3_In_Frame_Del_p.12_13PP>P|ROBO3_uc001qbf.1_Intron	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	1087					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCCTGCCCCCACCTCCTCCTTCT	0.611													-	124748276	CCT	-	124748274	7	5	80	1	0	1	0	1	0	0	0	0	13515	507	18	0	3348	0	ROBO3	11	124748274	In_Frame_Del	DEL	CCT	TCGA-BR-8368-01A-11D-2340-08	1898302	124748274	10258242	687	54629											
ST14	6768	broad.mit.edu	37	chr11	130078396	130078396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggagcgcaggctcaagCgcatcatctcccaccccttc	9	17	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:130078396C>T	uc001qfw.2	+	17	2279	c.2086C>T	c.(2086-2088)CGC>TGC	p.R696C		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	matriptase	696	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|skin(2)|central_nervous_system(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CAGGCTCAAGCGCATCATCTC	0.632													T	130078396	C	T	130078396	3	4	80	1	0	0	0	0	1	0	0	0	15210	768	27	1	2152	1	ST14	11	130078396	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	5330122	130078396	4928120	688	54630											
OPCML	4978	broad.mit.edu	37	chr11	132399028	132399028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacacagcagggtcacactGcttccctcattcacagtgat	8	13	3	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:132399028G>A	uc001qgs.2	-	3	503	c.453C>T	c.(451-453)AGC>AGT	p.S151S	OPCML_uc001qgu.2_Silent_p.S144S|OPCML_uc010sck.1_Silent_p.S151S|OPCML_uc001qgt.2_Silent_p.S151S|OPCML_uc010scl.1_Silent_p.S110S	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	151	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GGGTCACACTGCTTCCCTCAT	0.468													A	132399028	G	A	132399028	2	1	80	1	0	0	0	0	0	0	0	1	10874	1310	46	2		2	OPCML	11	132399028	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2320632	132399028	2607488	689	54631											
WNK1	65125	broad.mit.edu	37	chr12	992975	992975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaacaaccaattcctgcGtcttccatgccacagcaaat	4	14	2	0	rs147752204	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:992975G>A	uc001qio.3	+	17	4206	c.3699G>A	c.(3697-3699)GCG>GCA	p.A1233A	WNK1_uc001qip.3_Silent_p.A986A|WNK1_uc001qir.3_Silent_p.A406A	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1233					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAATTCCTGCGTCTTCCATGC	0.299													A	992975	G	A	992975	2	1	80	1	0	0	0	0	0	0	0	1	17374	1132	40	1		1	WNK1	12	992975	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08		992975	132858920	690	54632											
CACNA1C	775	broad.mit.edu	37	chr12	2714868	2714868	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggttcagtgtgtgtttgtCgccatccggaccatcgggaa	14	9	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:2714868C>T	uc009zdu.1	+	25	3445	c.3132C>T	c.(3130-3132)GTC>GTT	p.V1044V	CACNA1C_uc009zdv.1_Silent_p.V1021V|CACNA1C_uc001qkb.2_Silent_p.V1024V|CACNA1C_uc001qkc.2_Silent_p.V1024V|CACNA1C_uc001qke.2_Silent_p.V1024V|CACNA1C_uc001qkf.2_Silent_p.V1024V|CACNA1C_uc001qjz.2_Silent_p.V1024V|CACNA1C_uc001qkd.2_Silent_p.V1024V|CACNA1C_uc001qkg.2_Silent_p.V1024V|CACNA1C_uc009zdw.1_Silent_p.V1024V|CACNA1C_uc001qkh.2_Silent_p.V1024V|CACNA1C_uc001qkl.2_Silent_p.V1044V|CACNA1C_uc001qkn.2_Silent_p.V1024V|CACNA1C_uc001qko.2_Silent_p.V1044V|CACNA1C_uc001qkp.2_Silent_p.V1024V|CACNA1C_uc001qkr.2_Silent_p.V1024V|CACNA1C_uc001qku.2_Silent_p.V1024V|CACNA1C_uc001qkq.2_Silent_p.V1024V|CACNA1C_uc001qks.2_Silent_p.V1024V|CACNA1C_uc001qkt.2_Silent_p.V1024V|CACNA1C_uc001qka.1_Silent_p.V559V|CACNA1C_uc001qki.1_Silent_p.V760V|CACNA1C_uc001qkj.1_Silent_p.V760V|CACNA1C_uc001qkk.1_Silent_p.V760V|CACNA1C_uc001qkm.1_Silent_p.V760V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1044	Cytoplasmic (Potential).|III.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTGTGTTTGTCGCCATCCGGA	0.587													T	2714868	C	T	2714868	2	4	80	1	0	0	0	0	0	0	0	1	2540	871	31	1		1	CACNA1C	12	2714868	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1721893	2714868	131137027	691	54633											
CACNA1C	775	broad.mit.edu	37	chr12	2797835	2797835	+	Frame_Shift_Del	DEL	G	G	-													ctgagaccacccccggtggcGggggcagcagcgccgcccgg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:2797835delG	uc009zdu.1	+	49	6569	c.6256delG	c.(6256-6258)GGGfs	p.G2086fs	CACNA1C_uc009zdv.1_Frame_Shift_Del_p.G2000fs|CACNA1C_uc001qkb.2_Frame_Shift_Del_p.G2003fs|CACNA1C_uc001qkc.2_Frame_Shift_Del_p.G2022fs|CACNA1C_uc001qke.2_Frame_Shift_Del_p.G1992fs|CACNA1C_uc001qkf.2_Frame_Shift_Del_p.G2011fs|CACNA1C_uc001qjz.2_Frame_Shift_Del_p.G2003fs|CACNA1C_uc001qkd.2_Frame_Shift_Del_p.G2022fs|CACNA1C_uc001qkg.2_Frame_Shift_Del_p.G2009fs|CACNA1C_uc009zdw.1_Frame_Shift_Del_p.G2044fs|CACNA1C_uc001qkh.2_Frame_Shift_Del_p.G2011fs|CACNA1C_uc001qkl.2_Frame_Shift_Del_p.G2051fs|CACNA1C_uc001qkn.2_Frame_Shift_Del_p.G2003fs|CACNA1C_uc001qko.2_Frame_Shift_Del_p.G2023fs|CACNA1C_uc001qkp.2_Frame_Shift_Del_p.G2003fs|CACNA1C_uc001qkr.2_Frame_Shift_Del_p.G2020fs|CACNA1C_uc001qku.2_Frame_Shift_Del_p.G2038fs|CACNA1C_uc001qkq.2_Frame_Shift_Del_p.G2031fs|CACNA1C_uc001qks.2_Frame_Shift_Del_p.G2003fs|CACNA1C_uc001qkt.2_Frame_Shift_Del_p.G2022fs|CACNA1C_uc001qki.1_Frame_Shift_Del_p.G1810fs|CACNA1C_uc001qkj.1_Frame_Shift_Del_p.G1774fs|CACNA1C_uc001qkk.1_Frame_Shift_Del_p.G1739fs|CACNA1C_uc001qkm.1_Frame_Shift_Del_p.G1799fs|CACNA1C_uc010sea.1_Frame_Shift_Del_p.G694fs|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Frame_Shift_Del_p.G321fs	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	2086	Poly-Gly.|Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCCCGGTGGCGGGGGCAGCAG	0.706													-	2797835	G	-	2797835	7	5	80	1	0	1	0	1	0	0	0	0	2540	1116	39	0	6898	0	CACNA1C	12	2797835	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	82967	2797835	131054060	692	54634											
PRMT8	56341	broad.mit.edu	37	chr12	3678670	3678670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggcttatgtttccagacCgggcagctttgtacgtggta	14	8	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:3678670C>T	uc001qmf.2	+	6	1019	c.652C>T	c.(652-654)CGG>TGG	p.R218W	PRMT8_uc009zed.2_Missense_Mutation_p.R209W|PRMT8_uc009zee.1_RNA|PRMT8_uc001qmg.2_Missense_Mutation_p.R32W	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	HMT1 hnRNP methyltransferase-like 4	218					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			ovary(3)|central_nervous_system(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GTTTCCAGACCGGGCAGCTTT	0.473													T	3678670	C	T	3678670	3	4	80	1	0	0	0	0	1	0	0	0	12542	643	23	1	674	1	PRMT8	12	3678670	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	880835	3678670	130173225	693	54635											
KCNA5	3741	broad.mit.edu	37	chr12	5154173	5154173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctccgccaccctccggCgccccaccagcctcccgcgc	9	25	0	0	rs144246051	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:5154173C>T	uc001qni.2	+	1	1089	c.860C>T	c.(859-861)GCG>GTG	p.A287V		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	287						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						CACCCTCCGGCGCCCCACCAG	0.682													T	5154173	C	T	5154173	3	4	80	1	0	0	0	0	1	0	0	0	8006	768	27	1	862	1	KCNA5	12	5154173	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1475503	5154173	128697722	694	54636											
PLEKHG6	55200	broad.mit.edu	37	chr12	6421413	6421413	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaaggcctttggtcctccAcatgagggccccctccaagg	11	14	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:6421413A>C	uc001qnr.2	+	2	169	c.21A>C	c.(19-21)CCA>CCC	p.P7P	PLEKHG6_uc001qns.2_Silent_p.P7P|PLEKHG6_uc010sew.1_Silent_p.P7P|PLEKHG6_uc010sex.1_5'Flank	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain-containing family G	7					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|skin(1)	2						TTGGTCCTCCACATGAGGGCC	0.592													C	6421413	A	C	6421413	2	2	80	1	0	0	0	0	0	0	0	1	12074	146	6	5		5	PLEKHG6	12	6421413	Silent	SNP	A	TCGA-BR-8368-01A-11D-2340-08	1267240	6421413	127430482	695	54637											
IFFO1	25900	broad.mit.edu	37	chr12	6660145	6660145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtcttgcagctggatccGcaccgtgtactcctcttccc	9	16	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:6660145G>A	uc001qpd.1	-	2	830	c.796C>T	c.(796-798)CGG>TGG	p.R266W	IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_5'Flank|IFFO1_uc001qpb.1_5'Flank|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Missense_Mutation_p.R266W|IFFO1_uc001qpf.1_Missense_Mutation_p.R266W|IFFO1_uc001qoz.1_5'Flank|IFFO1_uc001qpc.1_Missense_Mutation_p.R266W|IFFO1_uc001qpg.2_5'Flank	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan isoform 2	266	Potential.					intermediate filament					0						AGCTGGATCCGCACCGTGTAC	0.622													A	6660145	G	A	6660145	3	1	80	1	0	0	0	0	1	0	0	0	7510	1086	38	1	931	1	IFFO1	12	6660145	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	238732	6660145	127191750	696	54638											
CD4	920	broad.mit.edu	37	chr12	6923379	6923379	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggaaactttcccctgatcAtcaagaatcttaagatagaa	6	8	3	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:6923379A>G	uc001qqv.1	+	4	531	c.286A>G	c.(286-288)ATC>GTC	p.I96V	CD4_uc009zez.1_Missense_Mutation_p.I41V|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_5'UTR|CD4_uc010sfk.1_5'UTR|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	CD4 antigen precursor	96	Extracellular (Potential).|Ig-like V-type.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)				TCCCCTGATCATCAAGAATCT	0.498													G	6923379	A	G	6923379	3	3	80	1	0	0	0	0	1	0	0	0	3014	217	8	3	296	3	CD4	12	6923379	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	263234	6923379	126928516	697	54639											
C1R	715	broad.mit.edu	37	chr12	7244123	7244123	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgagcttcaccctgtatccCgtggggactgtgatcacagt	11	12	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:7244123C>A	uc010sfy.1	-	2	215	c.156G>T	c.(154-156)ACG>ACT	p.T52T	C1R_uc010sfz.1_Silent_p.T66T|C1R_uc010sga.1_Silent_p.T52T	NM_001733	NP_001724	P00736	C1R_HUMAN	complement component 1, r subcomponent	52	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity				0					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCTGTATCCCGTGGGGACTG	0.532													A	7244123	C	A	7244123	2	1	80	1	0	0	0	0	0	0	0	1	1972	639	23	5		5	C1R	12	7244123	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	320744	7244123	126607772	698	54640											
KLRF1	51348	broad.mit.edu	37	chr12	9994990	9994990	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taactttacctccttgaaaaTgacatggacttgggtggatg	10	7	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:9994990T>C	uc010sgw.1	+	6	609	c.545T>C	c.(544-546)ATG>ACG	p.M182T	KLRF1_uc009zgw.2_Missense_Mutation_p.M133T|KLRF1_uc009zgx.2_RNA|KLRF1_uc001qwm.2_RNA|KLRF1_uc009zgy.2_RNA|KLRF1_uc009zgz.2_Intron|KLRF1_uc009zha.2_Intron	NM_016523	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F,	183	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			large_intestine(1)	1						TCCTTGAAAATGACATGGACT	0.358													C	9994990	T	C	9994990	3	2	80	1	0	0	0	0	1	0	0	0	8420	1464	51	3	566	3	KLRF1	12	9994990	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	2750867	9994990	123856905	699	54641											
CLEC2B	9976	broad.mit.edu	37	chr12	10010106	10010106	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcaattatagttaggtcGgcatgttgagtggaacagtt	12	4	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:10010106G>A	uc001qwn.2	-	3	861	c.204C>T	c.(202-204)GCC>GCT	p.A68A		NM_005127	NP_005118	Q92478	CLC2B_HUMAN	C-type lectin, superfamily member 2	68	C-type lectin.|Extracellular (Potential).					integral to plasma membrane	sugar binding				0						TAGTTAGGTCGGCATGTTGAG	0.328													A	10010106	G	A	10010106	2	1	80	1	0	0	0	0	0	0	0	1	3507	1103	39	1		1	CLEC2B	12	10010106	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	15116	10010106	123841789	700	54642											
DUSP16	80824	broad.mit.edu	37	chr12	12630269	12630269	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcgatgcagtggagataaaAgggacctctgggcggtgcca	15	8	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:12630269A>G	uc001rao.1	-	7	2128	c.1496T>C	c.(1495-1497)CTT>CCT	p.L499P	DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.L351P	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	499					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TGGAGATAAAAGGGACCTCTG	0.577													G	12630269	A	G	12630269	3	3	80	1	0	0	0	0	1	0	0	0	4816	72	3	3	505	3	DUSP16	12	12630269	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	2620163	12630269	121221626	701	54643											
KRAS	3845	broad.mit.edu	37	chr12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggcactcttgcctacgCcaccagctccaactaccaca	5	18	2	0	rs112445441		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:25398281C>T	uc001rgp.1	-	2	219	c.38G>A	c.(37-39)GGC>GAC	p.G13D	KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	13	GTP.		G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).|G -> D (in a breast carcinoma cell line and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13D(2647)|p.G13C(182)|p.G13S(58)|p.G13R(41)|p.G13V(27)|p.G13A(24)|p.G13G(11)|p.G13E(4)|p.G12_G13insG(4)|p.G13N(3)|p.G13I(1)|p.G13_V14>DI(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(NCIH647_LUNG)|G13D(MDAMB231_BREAST)|G13D(NCIH747_LARGE_INTESTINE)|G13D(T84_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT15_LARGE_INTESTINE)|G13D(HCT116_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25398281	C	T	25398281	3	4	80	1	0	0	0	0	1	0	0	0	8438	739	26	2	668	2	KRAS	12	25398281	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	12768012	25398281	108453614	702	54644											
C12orf11	55726	broad.mit.edu	37	chr12	27077371	27077371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatttggtagcaagatgccGtcctgcacgaacactatgaa	9	10	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:27077371G>A	uc001rhk.3	-	7	1258	c.721C>T	c.(721-723)CGG>TGG	p.R241W	C12orf11_uc010sjk.1_Missense_Mutation_p.R140W	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	241					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)					GCAAGATGCCGTCCTGCACGA	0.348													A	27077371	G	A	27077371	3	1	80	1	0	0	0	0	1	0	0	0	1675	1144	40	1	1443	1	C12orf11	12	27077371	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1679090	27077371	106774524	703	54645											
FGFR1OP2	26127	broad.mit.edu	37	chr12	27113541	27113541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatggactggagagaaggCacttggaagcaaatcagaat	12	6	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:27113541C>T	uc001rhm.2	+	5	832	c.490C>T	c.(490-492)CAC>TAC	p.H164Y	FGFR1OP2_uc001rhl.2_Missense_Mutation_p.H164Y|FGFR1OP2_uc001rhn.2_Intron	NM_015633	NP_056448	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	164	Potential.					cytoplasm					0	Colorectal(261;0.0847)					GGAGAGAAGGCACTTGGAAGC	0.423													T	27113541	C	T	27113541	3	4	80	1	0	0	0	0	1	0	0	0	5865	710	25	2	504	2	FGFR1OP2	12	27113541	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	36170	27113541	106738354	704	54646											
DENND5B	160518	broad.mit.edu	37	chr12	31632813	31632813	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagctggataaggaatttcTtgcaggcctgcatgaatggt	12	6	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:31632813T>C	uc001rki.1	-	3	800	c.614A>G	c.(613-615)AAG>AGG	p.K205R	DENND5B_uc001rkh.1_Missense_Mutation_p.K240R|DENND5B_uc009zjq.1_Missense_Mutation_p.K124R|DENND5B_uc001rkj.2_Missense_Mutation_p.K227R|DENND5B_uc001rkk.1_Missense_Mutation_p.K127R	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	205	DENN.					integral to membrane				ovary(1)|central_nervous_system(1)	2						AAGGAATTTCTTGCAGGCCTG	0.423													C	31632813	T	C	31632813	3	2	80	1	0	0	0	0	1	0	0	0	4437	1609	56	3	3286	3	DENND5B	12	31632813	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	4519272	31632813	102219082	705	54647											
BICD1	636	broad.mit.edu	37	chr12	32481022	32481022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggcagagcagagtcaccCgcagtggcagcctgaaaggg	15	10	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:32481022C>T	uc001rku.2	+	5	1714	c.1633C>T	c.(1633-1635)CGC>TGC	p.R545C	BICD1_uc001rkv.2_Missense_Mutation_p.R545C|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	545					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CAGAGTCACCCGCAGTGGCAG	0.527													T	32481022	C	T	32481022	3	4	80	1	0	0	0	0	1	0	0	0	1428	652	23	1	1651	1	BICD1	12	32481022	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	848209	32481022	101370873	706	54648											
LRRK2	120892	broad.mit.edu	37	chr12	40657647	40657648	+	Frame_Shift_Ins	INS	-	-	A													tcataagctaaatatggttaINSaaaaacagtgtttcaagaat							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:40657646_40657647T>TA	uc001rmg.4	+	13	1720_1721	c.1599_1600T>TA	c.(1597-1602)gttaaafs	p.V533fs	LRRK2_uc001rmh.1_Frame_Shift_Ins_p.V155fs	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	533					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAAATATGGTTAAAAAACAGTG	0.297													A	40657648	-	A	40657647	7	5	80	1	0	1	1	0	0	0	0	0	9033	363	13	0	1654	0	LRRK2	12	40657647	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	8176625	40657647	93194248	707	54649											
AMIGO2	347902	broad.mit.edu	37	chr12	47471413	47471413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttacctgcacctgccttcCgttcatcagcggaggcatca	8	14	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:47471413C>T	uc001rpm.2	-	3	2028	c.1373G>A	c.(1372-1374)CGG>CAG	p.R458Q	FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Missense_Mutation_p.R458Q|AMIGO2_uc001rpl.2_Missense_Mutation_p.R458Q	NM_001143668	NP_001137140	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	458	Cytoplasmic (Potential).				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				ovary(1)|skin(1)	2	Renal(347;0.138)|Lung SC(27;0.192)					ACCTGCCTTCCGTTCATCAGC	0.512													T	47471413	C	T	47471413	3	4	80	1	0	0	0	0	1	0	0	0	576	652	23	1	199	1	AMIGO2	12	47471413	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	6813766	47471413	86380482	708	54650											
COL2A1	1280	broad.mit.edu	37	chr12	48378832	48378832	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggctgcccacgagccccCtgaggacctggaggtccagg	14	16	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:48378832C>A	uc001rqu.2	-	27	1960	c.1779G>T	c.(1777-1779)CAG>CAT	p.Q593H	COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.Q524H	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	593	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CACGAGCCCCCTGAGGACCTG	0.537													A	48378832	C	A	48378832	3	1	80	1	0	0	0	0	1	0	0	0	3687	680	24	5	2796	5	COL2A1	12	48378832	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	907419	48378832	85473063	709	54651											
DDN	23109	broad.mit.edu	37	chr12	49391527	49391529	+	In_Frame_Del	DEL	CTC	CTC	-													tttgggaaaccagatctgttCtccttctttcccttccctcg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:49391526_49391528TCTC>T	uc001rsv.1	-	1	1149_1151	c.1131_1133GAGA>A	c.(1129-1134)ggagaa>ggAa	p.E378del		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	378	Interaction with ACTN1.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CCAGATCTGTTCTCCTTCTTTCC	0.631													-	49391529	CTC	-	49391527	7	5	80	1	0	1	0	1	0	0	0	0	4333	922	32	0	1007	0	DDN	12	49391527	In_Frame_Del	DEL	CTC	TCGA-BR-8368-01A-11D-2340-08	1012695	49391527	84460368	710	54652											
MLL2	8085	broad.mit.edu	37	chr12	49418643	49418643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtcagcccaaagagctcctCgcccttcagatactcaggga	9	15	3	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:49418643C>T	uc001rta.3	-	49	15871	c.15871G>A	c.(15871-15873)GAG>AAG	p.E5291K		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5291	FYR C-terminal.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AAGAGCTCCTCGCCCTTCAGA	0.572			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			T	49418643	C	T	49418643	3	4	80	1	0	0	0	0	1	0	0	0	9621	893	31	1	766	1	MLL2	12	49418643	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	27116	49418643	84433252	711	54653											
LMBR1L	55716	broad.mit.edu	37	chr12	49491882	49491882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccagcaggtcaaagcgaGtgagccctgaagcacaaagg	12	12	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:49491882G>A	uc001rth.3	-	16	1589	c.1247C>T	c.(1246-1248)ACT>ATT	p.T416I	LMBR1L_uc001rtg.3_Missense_Mutation_p.T411I|LMBR1L_uc001rti.3_Missense_Mutation_p.T396I	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN	lipocalin-interacting membrane receptor	416	Extracellular (Potential).				endocytosis	integral to membrane|plasma membrane	receptor activity			pancreas(1)	1						GTCAAAGCGAGTGAGCCCTGA	0.557											OREG0021783	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	49491882	G	A	49491882	3	1	80	1	0	0	0	0	1	0	0	0	8841	1029	36	4	230	4	LMBR1L	12	49491882	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	73239	49491882	84360013	712	54654											
TROAP	10024	broad.mit.edu	37	chr12	49717805	49717805	+	Frame_Shift_Del	DEL	C	C	-													gtcaaaatgtggggcctgggCcccctgcccagacaggtacc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:49717804_49717804GC>G	uc009zlh.3	+	2	488	c.321_321GC>G	c.(319-321)gggfs	p.G107fs	TROAP_uc001rtv.3_Frame_Shift_Del_p.G107fs|TROAP_uc001rtw.4_Frame_Shift_Del_p.G107fs|TROAP_uc001rtx.4_Frame_Shift_Del_p.G107fs	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	107					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGGGGCCTGGGCCCCCTGCCC	0.577													-	49717805	C	-	49717805	7	5	80	1	0	1	0	1	0	0	0	0	16572	739	26	0	328	0	TROAP	12	49717805	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	225923	49717805	84134090	713	54655											
DIP2B	57609	broad.mit.edu	37	chr12	51138528	51138528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggacccaggtgtcatccCgatcaactccagaggagaga	13	11	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:51138528C>T	uc001rwv.2	+	38	4793	c.4637C>T	c.(4636-4638)CCG>CTG	p.P1546L	DIP2B_uc009zlt.2_Missense_Mutation_p.P976L	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	1546						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						GGTGTCATCCCGATCAACTCC	0.537													T	51138528	C	T	51138528	3	4	80	1	0	0	0	0	1	0	0	0	4528	652	23	1	4787	1	DIP2B	12	51138528	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1420723	51138528	82713367	714	54656											
LETMD1	25875	broad.mit.edu	37	chr12	51442249	51442249	+	Frame_Shift_Del	DEL	G	G	-													tggtcgctctggcctggcttGgggggcccctcggtgaggga							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:51442248_51442248TG>T	uc009zlw.3	+	0	167	c.109_109TG>T	c.(109-111)tggfs	p.W37fs	LETMD1_uc010smz.2_Frame_Shift_Del_p.W37fs|LETMD1_uc010sna.2_Frame_Shift_Del_p.W37fs|LETMD1_uc001rxm.3_Frame_Shift_Del_p.W37fs|LETMD1_uc001rxn.3_5'UTR|LETMD1_uc001rxo.3_Non-coding_Transcript|LETMD1_uc001rxr.3_Non-coding_Transcript|LETMD1_uc001rxl.3_Intron|LETMD1_uc001rxt.3_5'Flank	NM_001243689	NP_001230618	Q6P1Q0	LTMD1_HUMAN	Homo sapiens LETM1 domain containing 1 (LETMD1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	37	Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						TGGCCTGGCTTGGGGGGCCCC	0.587											OREG0021818	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	51442249	G	-	51442249	7	5	80	1	0	1	0	1	0	0	0	0	8736	1357	47	0	112	0	LETMD1	12	51442249	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	303721	51442249	82409646	715	54657											
PCBP2	5094	broad.mit.edu	37	chr12	53856278	53856278	+	Frame_Shift_Del	DEL	C	C	-													ccctctgactctctcccagtCccccccgaagggcgtgacca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:53856277_53856277TC>T	uc001sdl.4	+	7	867	c.517_517TC>T	c.(517-519)tccfs	p.S173fs	PCBP2_uc001sde.4_Splice_Site_p.S169_splice|PCBP2_uc001sdi.4_Frame_Shift_Del_p.S173fs|PCBP2_uc001sdd.4_Splice_Site_p.S169_splice|PCBP2_uc001sdf.4_Splice_Site_p.S169_splice|PCBP2_uc001sdc.4_Frame_Shift_Del_p.S173fs|PCBP2_uc001sdb.4_Splice_Site_p.S169_splice|PCBP2_uc010soi.2_5'UTR|PCBP2_uc010soj.2_5'UTR|PCBP2_uc001sdk.4_Splice_Site|PCBP2_uc010soh.1_Splice_Site_p.S169_splice	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	Homo sapiens poly(rC) binding protein 2 (PCBP2), transcript variant 4, mRNA.	173					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TCTCTCCCAGTCCCCCCCGAA	0.498													-	53856278	C	-	53856278	7	5	80	1	0	1	0	1	0	0	0	0	11501	869	30	0	544	0	PCBP2	12	53856278	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	2414029	53856278	79995617	716	54658											
HOXC12	3228	broad.mit.edu	37	chr12	54349039	54349039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcggcgggggcctgaagcGtgaggagcgcgggcgcgacc	22	11	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:54349039G>A	uc010soq.1	+	1	326	c.326G>A	c.(325-327)CGT>CAT	p.R109H		NM_173860	NP_776272	P31275	HXC12_HUMAN	homeobox C12	109					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1						GGCCTGAAGCGTGAGGAGCGC	0.746													A	54349039	G	A	54349039	3	1	80	1	0	0	0	0	1	0	0	0	7311	1145	40	1	328	1	HOXC12	12	54349039	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	492761	54349039	79502856	717	54659											
KIAA0748	9840	broad.mit.edu	37	chr12	55356642	55356642	+	Frame_Shift_Del	DEL	G	G	-													gcaacttcttaccctcagcaGggggcacaggatcttcctgt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:55356642delG	uc001sgn.3	-	9	1150	c.1040delC	c.(1039-1041)CCTfs	p.P347fs	KIAA0748_uc001sgl.3_Frame_Shift_Del_p.P209fs|KIAA0748_uc001sgm.3_Frame_Shift_Del_p.P94fs|KIAA0748_uc010spb.1_Frame_Shift_Del_p.P94fs|KIAA0748_uc010spc.1_Frame_Shift_Del_p.P209fs|KIAA0748_uc010spd.1_Frame_Shift_Del_p.P347fs|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	347										ovary(1)|central_nervous_system(1)	2						ACCCTCAGCAGGGGGCACAGG	0.498													-	55356642	G	-	55356642	7	5	80	1	0	1	0	1	0	0	0	0	8190	1000	35	0	533	0	KIAA0748	12	55356642	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	1007603	55356642	78495253	718	54660											
GDF11	10220	broad.mit.edu	37	chr12	56142524	56142524	+	Frame_Shift_Del	DEL	A	A	-													tacctgcagatcttgcgactAaaacccctaactggggaagg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:56142523_56142523TA>T	uc001shq.3	+	1	636	c.599_599TA>T	c.(598-600)ctafs	p.L200fs		NM_005811	NP_005802	O95390	GDF11_HUMAN	Homo sapiens growth differentiation factor 11 (GDF11), mRNA.	200					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						ATCTTGCGACTAAAACCCCTA	0.612													-	56142524	A	-	56142524	7	5	80	1	0	1	0	1	0	0	0	0	6312	349	13	0	606	0	GDF11	12	56142524	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	785882	56142524	77709371	719	54661											
ESYT1	23344	broad.mit.edu	37	chr12	56536156	56536156	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagctctgcttggaccgcTggtttacactcagcagtggt	11	12	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:56536156T>C	uc001sjq.2	+	25	2730	c.2680T>C	c.(2680-2682)TGG>CGG	p.W894R	ESYT1_uc001sjr.2_Missense_Mutation_p.W904R	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	894						integral to membrane				ovary(4)|skin(1)	5						CTTGGACCGCTGGTTTACACT	0.627													C	56536156	T	C	56536156	3	2	80	1	0	0	0	0	1	0	0	0	5264	1580	55	3	2808	3	ESYT1	12	56536156	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	393632	56536156	77315739	720	54662											
MIP	4284	broad.mit.edu	37	chr12	56847528	56847528	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcctggcccacgctcacCgcagggtgcaactgtgcaaa	12	14	1	0	rs141768870		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:56847528C>T	uc001slh.2	-	2	404	c.372G>A	c.(370-372)GCG>GCA	p.A124A		NM_012064	NP_036196	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	124	Extracellular (By similarity).				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			skin(1)	1						CCACGCTCACCGCAGGGTGCA	0.577													T	56847528	C	T	56847528	2	4	80	1	0	0	0	0	0	0	0	1	9591	639	23	1		1	MIP	12	56847528	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	311372	56847528	77004367	721	54663											
GPR182	11318	broad.mit.edu	37	chr12	57389247	57389247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcgcggctcaggccgggCagggctgatgaacctctaca	15	13	2	2	rs146012865	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:57389247C>T	uc001smk.2	+	2	348	c.254C>T	c.(253-255)GCA>GTA	p.A85V	RDH16_uc010sqx.1_Intron	NM_007264	NP_009195	O15218	GP182_HUMAN	G protein-coupled receptor 182	85	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(1)	1						TCAGGCCGGGCAGGGCTGATG	0.607													T	57389247	C	T	57389247	3	4	80	1	0	0	0	0	1	0	0	0	6677	710	25	2	256	2	GPR182	12	57389247	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	541719	57389247	76462648	722	54664											
ARHGAP9	64333	broad.mit.edu	37	chr12	57869329	57869329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagctccgactcctcttcttCgtcctccccggcgctcagct	7	20	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:57869329C>T	uc001sod.2	-	14	1844	c.1651G>A	c.(1651-1653)GAA>AAA	p.E551K	ARHGAP9_uc001sny.2_5'Flank|ARHGAP9_uc001snz.2_Missense_Mutation_p.E277K|ARHGAP9_uc001soa.2_Missense_Mutation_p.E150K|ARHGAP9_uc001sob.2_Missense_Mutation_p.E461K|ARHGAP9_uc001soc.2_Missense_Mutation_p.E461K|ARHGAP9_uc001soe.1_Missense_Mutation_p.E540K	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9 isoform 1	480					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			lung(1)	1			GBM - Glioblastoma multiforme(3;3.37e-34)			TCCTCTTCTTCGTCCTCCCCG	0.716													T	57869329	C	T	57869329	3	4	80	1	0	0	0	0	1	0	0	0	889	893	31	1	846	1	ARHGAP9	12	57869329	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	480082	57869329	75982566	723	54665											
GRIP1	23426	broad.mit.edu	37	chr12	66788080	66788080	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgccaaggggccccccGtagcgtttaagctccacggt	13	13	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:66788080G>A	uc001stk.2	-	16	2122	c.1881C>T	c.(1879-1881)TAC>TAT	p.Y627Y	GRIP1_uc010sta.1_Silent_p.Y571Y|GRIP1_uc001stj.2_Silent_p.Y409Y|GRIP1_uc001stl.1_Silent_p.Y519Y|GRIP1_uc001stm.2_Silent_p.Y627Y	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	679	PDZ 6.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GGGGCCCCCCGTAGCGTTTAA	0.408													A	66788080	G	A	66788080	2	1	80	1	0	0	0	0	0	0	0	1	6787	1140	40	1		1	GRIP1	12	66788080	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	8918751	66788080	67063815	724	54666											
PTPRB	5787	broad.mit.edu	37	chr12	70948992	70948992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacagctccattggtgtcGctgaaccagctgcagttgac	10	12	1	2	rs112766507		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:70948992G>A	uc001swb.3	-	18	4467	c.4437C>T	c.(4435-4437)AGC>AGT	p.S1479S	PTPRB_uc010sto.1_Silent_p.S1389S|PTPRB_uc010stp.1_Silent_p.S1389S|PTPRB_uc001swc.3_Silent_p.S1697S|PTPRB_uc001swa.3_Silent_p.S1609S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1479	Fibronectin type-III 17.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CATTGGTGTCGCTGAACCAGC	0.478													A	70948992	G	A	70948992	2	1	80	1	0	0	0	0	0	0	0	1	12796	1078	38	1		1	PTPRB	12	70948992	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	4160912	70948992	62902903	725	54667											
C12orf12	196477	broad.mit.edu	37	chr12	91348087	91348087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcaggccgcggcctctgcGgccccagcgcttcttcctgc	13	19	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:91348087G>A	uc001tbj.2	-	1	867	c.433C>T	c.(433-435)CGC>TGC	p.R145C		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	145										central_nervous_system(1)|pancreas(1)	2						CGGCCTCTGCGGCCCCAGCGC	0.697													A	91348087	G	A	91348087	3	1	80	1	0	0	0	0	1	0	0	0	1676	1116	39	1	791	1	C12orf12	12	91348087	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	20399095	91348087	42503808	726	54668											
EEA1	8411	broad.mit.edu	37	chr12	93236245	93236245	+	Frame_Shift_Del	DEL	T	T	-													gctttaaaattctcacctgaTttttttgtgttaattcatta							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:93236245delT	uc001tck.2	-	10	1176	c.911delA	c.(910-912)AATfs	p.N304fs		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	304	Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						TCTCACCTGATTTTTTTGTGT	0.284													-	93236245	T	-	93236245	7	5	80	1	0	1	0	1	0	0	0	0	4921	1493	52	0	3404	0	EEA1	12	93236245	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	1888158	93236245	40615650	727	54669											
GOLGA2B	55592	broad.mit.edu	37	chr12	100551024	100551024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctggctctggtacagtgcGatgtactctcctgcaggagg	13	11	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:100551024G>A	uc001tgs.2	-	5	745	c.301C>T	c.(301-303)CGC>TGC	p.R101C	GOLGA2B_uc001tgt.2_RNA|GOLGA2B_uc001tgu.2_Missense_Mutation_p.R101C|uc001tgv.1_5'Flank|uc001tgx.2_5'Flank	NM_017600	NP_060070			golgi autoantigen, golgin subfamily a, 2-like 1												0						GGTACAGTGCGATGTACTCTC	0.622													A	100551024	G	A	100551024	3	1	80	1	0	0	0	0	1	0	0	0	6553	1058	37	1	141	1	GOLGA2B	12	100551024	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	7314779	100551024	33300871	728	54670											
SLC17A8	246213	broad.mit.edu	37	chr12	100774560	100774560	+	Frame_Shift_Del	DEL	C	C	-													gtgcagacgtccaggccaagCcccccactctgcgactgcca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:100774559_100774559GC>G	uc010svi.2	+	1	495	c.182_182GC>G	c.(181-183)agcfs	p.S61fs	SLC17A8_uc009ztx.3_Frame_Shift_Del_p.S61fs	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	61					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TCCAGGCCAAGCCCCCCACTC	0.527													-	100774560	C	-	100774560	7	5	80	1	0	1	0	1	0	0	0	0	14423	738	26	0	189	0	SLC17A8	12	100774560	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	223536	100774560	33077335	729	54671											
GNPTAB	79158	broad.mit.edu	37	chr12	102161840	102161840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatccccaccatcccaatcGcaggctgaattattacaagc	5	15	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:102161840G>A	uc001tit.2	-	11	1562	c.1383C>T	c.(1381-1383)TGC>TGT	p.C461C	GNPTAB_uc001tiu.1_Silent_p.C461C	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	461	LNR 1.		C -> G (in MLIIIA).		cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2						CATCCCAATCGCAGGCTGAAT	0.418													A	102161840	G	A	102161840	2	1	80	1	0	0	0	0	0	0	0	1	6545	1079	38	1		1	GNPTAB	12	102161840	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1387280	102161840	31690055	730	54672											
ACACB	32	broad.mit.edu	37	chr12	109637206	109637206	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgactcctcctctctcccaGttaccgaattaccatcggca	5	18	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:109637206G>A	uc001tob.2	+	18	2747	c.2628_splice	c.e18-1	p.S876_splice	ACACB_uc001toc.2_Splice_Site_p.S876_splice	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta						acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	CTCTCTCCCAGTTACCGAATT	0.527													A	109637206	G	A	109637206	5	1	80	1	0	0	0	0	0	0	1	0	107	1043	36	4	2693	4	ACACB	12	109637206	Splice_Site	SNP	G	TCGA-BR-8368-01A-11D-2340-08	7475366	109637206	24214689	731	54673											
TRPV4	59341	broad.mit.edu	37	chr12	110246248	110246248	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggggcggctgaggggcagGggctttggggctctgcggct	24	8	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:110246248G>T	uc001tpj.1	-	2	507	c.412C>A	c.(412-414)CCT>ACT	p.P138T	TRPV4_uc001tpg.1_Missense_Mutation_p.P104T|TRPV4_uc001tph.1_Missense_Mutation_p.P138T|TRPV4_uc001tpi.1_Missense_Mutation_p.P138T|TRPV4_uc001tpk.1_Missense_Mutation_p.P138T|TRPV4_uc001tpl.1_Missense_Mutation_p.P138T	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	138	Cytoplasmic (Potential).				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TGAGGGGCAGGGGCTTTGGGG	0.657													T	110246248	G	T	110246248	3	4	80	1	0	0	0	0	1	0	0	0	16595	1232	43	5	2259	5	TRPV4	12	110246248	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	609042	110246248	23605647	732	54674											
ARPC3	10094	broad.mit.edu	37	chr12	110873942	110873942	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtttatcattctgagggtcGaaaactttctcacaaagtct	8	8	4	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:110873942G>A	uc001tqq.2	-	6	540	c.447C>T	c.(445-447)TTC>TTT	p.F149F		NM_005719	NP_005710	O15145	ARPC3_HUMAN	actin related protein 2/3 complex subunit 3	149					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			ovary(1)	1						TCTGAGGGTCGAAAACTTTCT	0.388													A	110873942	G	A	110873942	2	1	80	1	0	0	0	0	0	0	0	1	972	1049	37	1		1	ARPC3	12	110873942	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	627694	110873942	22977953	733	54675											
CUX2	23316	broad.mit.edu	37	chr12	111758076	111758076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagggcagcgggggccccGcgcaggcgccgctcccggtc	19	16	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:111758076G>A	uc001tsa.1	+	17	2416	c.2263G>A	c.(2263-2265)GCG>ACG	p.A755T		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	755						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						CGGGGGCCCCGCGCAGGCGCC	0.736													A	111758076	G	A	111758076	3	1	80	1	0	0	0	0	1	0	0	0	4065	1087	38	1	2329	1	CUX2	12	111758076	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	884134	111758076	22093819	734	54676											
ATXN2	6311	broad.mit.edu	37	chr12	111893938	111893938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggaaactattctgtggCgactgcgtgttggaggcagg	17	7	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:111893938C>T	uc001tsj.2	-	23	3801	c.3639G>A	c.(3637-3639)TCG>TCA	p.S1213S	ATXN2_uc001tsh.2_Silent_p.S948S|ATXN2_uc001tsi.2_Silent_p.S906S|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Silent_p.S401S|ATXN2_uc001tsl.1_Silent_p.S214S	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	1213					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						TATTCTGTGGCGACTGCGTGT	0.582													T	111893938	C	T	111893938	2	4	80	1	0	0	0	0	0	0	0	1	1211	755	27	1		1	ATXN2	12	111893938	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	135862	111893938	21957957	735	54677											
WSB2	55884	broad.mit.edu	37	chr12	118480755	118480755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacgacatcttggtggccGgaaagattcaaaagcaggag	12	9	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:118480755G>A	uc001twr.2	-	4	548	c.450C>T	c.(448-450)TCC>TCT	p.S150S	WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_Intron|WSB2_uc009zws.1_Silent_p.S150S	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	150					intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTGGTGGCCGGAAAGATTCA	0.592													A	118480755	G	A	118480755	2	1	80	1	0	0	0	0	0	0	0	1	17402	1103	39	1		1	WSB2	12	118480755	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	6586817	118480755	15371140	736	54678											
ACADS	35	broad.mit.edu	37	chr12	121163699	121163699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtcgcccatggccgccgCgctgctcgcccgggcctcgg	14	19	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:121163699C>T	uc001tza.3	+	1	129	c.11C>T	c.(10-12)GCG>GTG	p.A4V	ACADS_uc010szl.1_Missense_Mutation_p.A4V	NM_000017	NP_000008	P16219	ACADS_HUMAN	short-chain acyl-CoA dehydrogenase precursor	4						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(2)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	ATGGCCGCCGCGCTGCTCGCC	0.761													T	121163699	C	T	121163699	3	4	80	1	0	0	0	0	1	0	0	0	114	768	27	1	13	1	ACADS	12	121163699	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2682944	121163699	12688196	737	54679											
ORAI1	84876	broad.mit.edu	37	chr12	122079195	122079195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctccaccgtcatcggcacGctgctcttcctagctgaggt	9	15	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:122079195G>A	uc010szz.1	+	3	745	c.552G>A	c.(550-552)ACG>ACA	p.T184T		NM_032790	NP_116179	Q96D31	CRCM1_HUMAN	calcium release-activated calcium channel	184	Helical; (Potential).				platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		TCATCGGCACGCTGCTCTTCC	0.632													A	122079195	G	A	122079195	2	1	80	1	0	0	0	0	0	0	0	1	11257	1074	38	1		1	ORAI1	12	122079195	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	915496	122079195	11772700	738	54680											
LRRC43	254050	broad.mit.edu	37	chr12	122667814	122667814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcggaagctgtgtctgcgCgagttcccgtgcggtgccgg	17	11	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:122667814C>T	uc009zxm.2	+	1	148	c.123C>T	c.(121-123)CGC>CGT	p.R41R	LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	41											0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGTGTCTGCGCGAGTTCCCGT	0.771													T	122667814	C	T	122667814	2	4	80	1	0	0	0	0	0	0	0	1	9001	755	27	1		1	LRRC43	12	122667814	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	588619	122667814	11184081	739	54681											
ABCB9	23457	broad.mit.edu	37	chr12	123444231	123444231	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggccacgaggaaggccacGtcgggcttggtgtaggagag	19	9	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:123444231G>A	uc001udm.3	-	2	862	c.552C>T	c.(550-552)GAC>GAT	p.D184D	ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Silent_p.D184D|ABCB9_uc010taj.1_Silent_p.D184D|ABCB9_uc001udp.2_Silent_p.D184D|ABCB9_uc001udq.2_Translation_Start_Site|ABCB9_uc001udr.2_Silent_p.D184D	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	184					positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GGAAGGCCACGTCGGGCTTGG	0.657													A	123444231	G	A	123444231	2	1	80	1	0	0	0	0	0	0	0	1	48	1136	40	1		1	ABCB9	12	123444231	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	776417	123444231	10407664	740	54682											
SBNO1	55206	broad.mit.edu	37	chr12	123805034	123805034	+	Frame_Shift_Del	DEL	G	G	-													taagttcatccagggtattaGgggggaggtcttcagctaat							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:123805034delG	uc010tap.1	-	18	2612	c.2612delC	c.(2611-2613)CCTfs	p.P871fs	SBNO1_uc010tao.1_Frame_Shift_Del_p.P870fs|SBNO1_uc010taq.1_Intron	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	871							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CAGGGTATTAGGGGGGAGGTC	0.448													-	123805034	G	-	123805034	7	5	80	1	0	1	0	1	0	0	0	0	13862	1000	35	0	1625	0	SBNO1	12	123805034	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	360803	123805034	10046861	741	54683											
DNAH10	196385	broad.mit.edu	37	chr12	124359795	124359795	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtggatgaatatggcacGcagcagcccattgccttgct	12	10	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:124359795G>A	uc001uft.3	+	46	7627	c.7602G>A	c.(7600-7602)ACG>ACA	p.T2534T		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2534	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AATATGGCACGCAGCAGCCCA	0.358													A	124359795	G	A	124359795	2	1	80	1	0	0	0	0	0	0	0	1	4598	1074	38	1		1	DNAH10	12	124359795	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	554761	124359795	9492100	742	54684											
DDX51	317781	broad.mit.edu	37	chr12	132625024	132625024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctcctctggccaggcccGtagcgcgaggagaactcagc	12	15	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:132625024G>A	uc001ujy.3	-	11	1656	c.1617C>T	c.(1615-1617)TAC>TAT	p.Y539Y		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	539	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			lung(1)|pancreas(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGCCAGGCCCGTAGCGCGAGG	0.622													A	132625024	G	A	132625024	2	1	80	1	0	0	0	0	0	0	0	1	4369	1140	40	1		1	DDX51	12	132625024	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	8265229	132625024	1226871	743	54685											
PXMP2	5827	broad.mit.edu	37	chr12	133277870	133277870	+	Frame_Shift_Del	DEL	G	G	-													agccttcgccgccaagatgaGggggggcttctggccggcgc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:133277869_133277869AG>A	uc001ukt.3	+	3	498	c.433_433AG>A	c.(433-435)aggfs	p.R145fs	PGAM5_uc010tbr.2_Non-coding_Transcript	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN	Homo sapiens peroxisomal membrane protein 2, 22kDa (PXMP2), mRNA.	145						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CGCCAAGATGAGGGGGGGCTT	0.612													-	133277870	G	-	133277870	7	5	80	1	0	1	0	1	0	0	0	0	12850	1000	35	0	448	0	PXMP2	12	133277870	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	652846	133277870	574025	744	54686											
XPO4	64328	broad.mit.edu	37	chr13	21358038	21358038	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgacttgatagtaatgtttcGaccagttcagaatattcagc	8	7	2	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:21358038G>A	uc001unq.3	-	23	3315	c.3279C>T	c.(3277-3279)GTC>GTT	p.V1093V		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	1093					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GTAATGTTTCGACCAGTTCAG	0.413													A	21358038	G	A	21358038	2	1	80	1	0	0	0	0	0	0	0	1	17443	1045	37	1		1	XPO4	13	21358038	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08		21358038	93811840	745	54687											
PABPC3	5042	broad.mit.edu	37	chr13	25670802	25670803	+	Frame_Shift_Ins	INS	-	-	A													agcagctgaaagagctattaINSaaaaaatgaacggaatgctc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:25670801_25670802T>TA	uc001upy.3	+	0	526_527	c.465_466T>TA	c.(463-468)attaaafs	p.I155fs		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	155	RRM 2.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAAGAGCTATTAAAAAAATGAA	0.396													A	25670803	-	A	25670802	7	5	80	1	0	1	1	0	0	0	0	0	11365	363	13	0	468	0	PABPC3	13	25670802	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	4312764	25670802	89499076	746	54688											
PAN3	255967	broad.mit.edu	37	chr13	28855473	28855473	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggttcaaaatggaagactgTttaggctcctagcaaaattg	10	6	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:28855473T>A	uc001urz.2	+	16	1911	c.1903T>A	c.(1903-1905)TTT>ATT	p.F635I	PAN3_uc001ury.2_Missense_Mutation_p.F469I|PAN3_uc001urx.2_Missense_Mutation_p.F581I	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	781	Interaction with PAN2.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TGGAAGACTGTTTAGGCTCCT	0.308													A	28855473	T	A	28855473	3	1	80	1	0	0	0	0	1	0	0	0	11415	1725	60	5	2407	5	PAN3	13	28855473	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	3184671	28855473	86314405	747	54689											
SLC46A3	283537	broad.mit.edu	37	chr13	29291959	29291959	+	Frame_Shift_Del	DEL	A	A	-													tttcttacctcctggaatgcAaaaattgggctgcttttgtt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:29291958_29291958CA>C	uc001usj.3	-	1	720	c.178_178TG>G	c.(178-180)gcafs	p.A60fs	SLC46A3_uc001usg.3_5'Flank|SLC46A3_uc001usi.3_Frame_Shift_Del_p.A60fs|SLC46A3_uc001ush.3_Frame_Shift_Del_p.A60fs|SLC46A3_uc001usk.3_5'Flank	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	60					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		TCCTGGAATGCAAAAATTGGG	0.348													-	29291959	A	-	29291959	7	5	80	1	0	1	0	1	0	0	0	0	14646	127	5	0	1242	0	SLC46A3	13	29291959	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	436486	29291959	85877919	748	54690											
SLC7A1	6541	broad.mit.edu	37	chr13	30091766	30091766	+	Frame_Shift_Del	DEL	T	T	-													agattttggaaggctccatgTttttgggtgagagtatggtt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:30091766delT	uc001uso.2	-	10	1841	c.1454delA	c.(1453-1455)AACfs	p.N485fs		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	485	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGGCTCCATGTTTTTGGGTGA	0.473													-	30091766	T	-	30091766	7	5	80	1	0	1	0	1	0	0	0	0	14692	1725	60	0	451	0	SLC7A1	13	30091766	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	799807	30091766	85078112	749	54691											
NBEA	26960	broad.mit.edu	37	chr13	36202305	36202305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcgaggaccagaagcagttCgtgctctgaatgtttttcac	11	9	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:36202305C>T	uc001uvb.2	+	49	7743	c.7537C>T	c.(7537-7539)CGT>TGT	p.R2513C	NBEA_uc010abi.2_Missense_Mutation_p.R1169C|NBEA_uc010tee.1_Missense_Mutation_p.R306C|NBEA_uc010tef.1_Missense_Mutation_p.R306C|NBEA_uc010teg.1_Missense_Mutation_p.R306C|NBEA_uc001uvd.2_Missense_Mutation_p.R70C	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2513	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGAAGCAGTTCGTGCTCTGAA	0.433													T	36202305	C	T	36202305	3	4	80	1	0	0	0	0	1	0	0	0	10187	884	31	1	7731	1	NBEA	13	36202305	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	6110539	36202305	78967573	750	54692											
FREM2	341640	broad.mit.edu	37	chr13	39448644	39448644	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctatccaaccagcatgcgCatcggtgatgaggggcgctt	12	12	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:39448644C>T	uc001uwv.2	+	18	8511	c.8202C>T	c.(8200-8202)CGC>CGT	p.R2734R		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2734	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCAGCATGCGCATCGGTGATG	0.468													T	39448644	C	T	39448644	2	4	80	1	0	0	0	0	0	0	0	1	6045	697	25	2		2	FREM2	13	39448644	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3246339	39448644	75721234	751	54693											
AKAP11	11215	broad.mit.edu	37	chr13	42874908	42874908	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacgcctgcatctccacagTgtgggtcgtttgactttgaa	10	10	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:42874908T>G	uc001uys.1	+	8	2201	c.2026T>G	c.(2026-2028)TGT>GGT	p.C676G		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	676					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ATCTCCACAGTGTGGGTCGTT	0.413													G	42874908	T	G	42874908	3	3	80	1	0	0	0	0	1	0	0	0	447	1696	59	5	2048	5	AKAP11	13	42874908	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	3426264	42874908	72294970	752	54694											
MLNR	2862	broad.mit.edu	37	chr13	49795274	49795274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgcctcagcatcctctaCgggctcatcgggcgggagct	13	14	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:49795274C>T	uc010tgj.1	+	1	801	c.801C>T	c.(799-801)TAC>TAT	p.Y267Y		NM_001507	NP_001498	O43193	MTLR_HUMAN	motilin receptor	267	Helical; Name=5; (Potential).				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity				0		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		GCATCCTCTACGGGCTCATCG	0.726													T	49795274	C	T	49795274	2	4	80	1	0	0	0	0	0	0	0	1	9632	547	19	1		1	MLNR	13	49795274	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	6920366	49795274	65374604	753	54695											
SETDB2	83852	broad.mit.edu	37	chr13	50065970	50065970	+	Frame_Shift_Del	DEL	A	A	-													tgtggggttaataaatgtagAaaaaaaatattataaatatg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:50065970delA	uc001vcz.2	+	15	3051	c.2145delA	c.(2143-2145)AGAfs	p.R715fs	SETDB2_uc001vda.2_Frame_Shift_Del_p.R703fs	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2 isoform a	715					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		ATAAATGTAGAAAAAAAATAT	0.373													-	50065970	A	-	50065970	7	5	80	1	0	1	0	1	0	0	0	0	14139	243	9	0	2199	0	SETDB2	13	50065970	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	270696	50065970	65103908	754	54696											
SERPINE3	647174	broad.mit.edu	37	chr13	51922451	51922451	+	Frame_Shift_Del	DEL	C	C	-													gctgccccgtgacaaagacaCccccctgagccacatcgagc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:51922450_51922450AC>A	uc001vfh.2	+	3	862	c.802_802AC>A	c.(802-804)accfs	p.T268fs	SERPINE3_uc010tgp.2_Frame_Shift_Del_p.T268fs	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA.	268					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						TGACAAAGACACCCCCCTGAG	0.612													-	51922451	C	-	51922451	7	5	80	1	0	1	0	1	0	0	0	0	14113	507	18	0	817	0	SERPINE3	13	51922451	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	1856481	51922451	63247427	755	54697											
PCDH17	27253	broad.mit.edu	37	chr13	58208087	58208087	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagacgagaacgacaacccGcctcggttcaccaaagggct	10	14	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:58208087G>A	uc001vhq.1	+	1	2299	c.1407G>A	c.(1405-1407)CCG>CCA	p.P469P	PCDH17_uc010aec.1_Silent_p.P469P	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	469	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACGACAACCCGCCTCGGTTCA	0.612													A	58208087	G	A	58208087	2	1	80	1	0	0	0	0	0	0	0	1	11512	1074	38	1		1	PCDH17	13	58208087	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	6285636	58208087	56961791	756	54698											
PCDH9	5101	broad.mit.edu	37	chr13	67802376	67802376	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catccccagctttagaaaccAgtctgtagacaaggctggcg	10	12	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:67802376A>C	uc001vik.2	-	2	889	c.197T>G	c.(196-198)CTG>CGG	p.L66R	PCDH9_uc001vil.2_Missense_Mutation_p.L66R|PCDH9_uc010thl.1_Missense_Mutation_p.L66R|PCDH9_uc001vin.3_Missense_Mutation_p.L66R	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	66	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTTAGAAACCAGTCTGTAGAC	0.468													C	67802376	A	C	67802376	3	2	80	1	0	0	0	0	1	0	0	0	11518	188	7	5	3532	5	PCDH9	13	67802376	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	9594289	67802376	47367502	757	54699											
TBC1D4	9882	broad.mit.edu	37	chr13	75869048	75869048	+	Frame_Shift_Del	DEL	G	G	-													gcaaacaatgtgaggaaccaGggggcagcataaagactggg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:75869047_75869047AG>A	uc001vjl.1	-	17	3606	c.3259_3259CT>T	c.(3259-3261)tggfs	p.W1087fs	TBC1D4_uc010tht.1_Frame_Shift_Del_p.W297fs|TBC1D4_uc010thu.1_Frame_Shift_Del_p.W244fs|TBC1D4_uc010aer.2_Frame_Shift_Del_p.W1079fs|TBC1D4_uc010aes.2_Frame_Shift_Del_p.W1024fs	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	1087	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity	p.P1086L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GTGAGGAACCAGGGGGCAGCA	0.403													-	75869048	G	-	75869048	7	5	80	1	0	1	0	1	0	0	0	0	15619	987	35	0	654	0	TBC1D4	13	75869048	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	8066672	75869048	39300830	758	54700											
MYCBP2	23077	broad.mit.edu	37	chr13	77672167	77672167	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcatgtactatgccttcaTgccagaggaaggaagcaaac	9	10	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:77672167T>C	uc001vkf.2	-	57	9099	c.9008A>G	c.(9007-9009)CAT>CGT	p.H3003R	MYCBP2_uc010aev.2_Missense_Mutation_p.H2407R|MYCBP2_uc001vkg.1_Missense_Mutation_p.H526R|MYCBP2_uc010aew.2_Missense_Mutation_p.H389R	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3003					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TATGCCTTCATGCCAGAGGAA	0.448													C	77672167	T	C	77672167	3	2	80	1	0	0	0	0	1	0	0	0	10018	1464	51	3	5026	3	MYCBP2	13	77672167	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	1803119	77672167	37497711	759	54701											
MYCBP2	23077	broad.mit.edu	37	chr13	77743852	77743852	+	Splice_Site	DEL	A	A	-													gttctggaatgtcatcagctAaaaaaaggcataaaaggcat							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:77743851_77743851TA>T	uc021rks.1	-	39	6062	c.5795_splice	c.e39-1	p.A1932_splice	MYCBP2_uc010aev.3_Splice_Site_p.A1298_splice	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	1894					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGTCATCAGCTAAAAAAAGGC	0.393													-	77743852	A	-	77743852	8	5	80	1	0	1	0	1	0	0	1	0	10018	377	13	0		0	MYCBP2	13	77743852	Splice_Site	DEL	A	TCGA-BR-8368-01A-11D-2340-08	71685	77743852	37426026	760	54702											
MYCBP2	23077	broad.mit.edu	37	chr13	77755995	77755995	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttaacagacgtgtgacacagAgctgacataacagctgcaag	10	9	0	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:77755995A>T	uc001vkf.2	-	34	4759	c.4668T>A	c.(4666-4668)GCT>GCA	p.A1556A	MYCBP2_uc010aev.2_Silent_p.A960A	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGTGACACAGAGCTGACATAA	0.403													T	77755995	A	T	77755995	2	4	80	1	0	0	0	0	0	0	0	1	10018	291	11	5		5	MYCBP2	13	77755995	Silent	SNP	A	TCGA-BR-8368-01A-11D-2340-08	12143	77755995	37413883	761	54703											
GPC5	2262	broad.mit.edu	37	chr13	92560303	92560303	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttattgataaactgaagcatGttgttcaggtaagtcctgat	9	5	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:92560303G>C	uc010tif.1	+	6	1759	c.1393G>C	c.(1393-1395)GTT>CTT	p.V465L		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	465						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ACTGAAGCATGTTGTTCAGGT	0.323													C	92560303	G	C	92560303	3	2	80	1	0	0	0	0	1	0	0	0	6601	1377	48	5	1415	5	GPC5	13	92560303	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	14804308	92560303	22609575	762	54704											
ABCC4	10257	broad.mit.edu	37	chr13	95735432	95735432	+	Frame_Shift_Del	DEL	A	A	-													tcacatctcttgacgtttccAaaaaatatcgccgaagaaaa							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:95735432delA	uc001vmd.3	-	21	2767	c.2648delT	c.(2647-2649)TTGfs	p.L883fs	ABCC4_uc010afk.2_Frame_Shift_Del_p.L836fs	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	883	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGACGTTTCCAAAAAATATCG	0.443													-	95735432	A	-	95735432	7	5	80	1	0	1	0	1	0	0	0	0	55	131	5	0	1373	0	ABCC4	13	95735432	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	3175129	95735432	19434446	763	54705											
PCCA	5095	broad.mit.edu	37	chr13	100953844	100953844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctgggcagttgaatgtcGggtttatgctgaggtaaaat	15	5	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:100953844G>A	uc001voo.2	+	13	1234	c.1196G>A	c.(1195-1197)CGG>CAG	p.R399Q	PCCA_uc010aga.2_Missense_Mutation_p.R373Q|PCCA_uc010tiz.1_Missense_Mutation_p.R399Q|PCCA_uc001vop.2_RNA	NM_000282	NP_000273	P05165	PCCA_HUMAN	propionyl-Coenzyme A carboxylase, alpha	399	Biotin carboxylation.		R -> Q (in PA-1).		fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			skin(2)	2	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	GTTGAATGTCGGGTTTATGCT	0.488													A	100953844	G	A	100953844	3	1	80	1	0	0	0	0	1	0	0	0	11504	1116	39	1	1246	1	PCCA	13	100953844	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	5218412	100953844	14216034	764	54706											
MYO16	23026	broad.mit.edu	37	chr13	109661393	109661393	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagttttggactttttttTccaggtattcatataatata	7	4	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:109661393T>C	uc001vqt.1	+	22	2651	c.2525T>C	c.(2524-2526)TTC>TCC	p.F842S	MYO16_uc010agk.1_Missense_Mutation_p.F864S|MYO16_uc001vqu.1_Missense_Mutation_p.F642S|MYO16_uc010tjh.1_Missense_Mutation_p.F354S	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	842					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GACTTTTTTTTCCAGGTATTC	0.353													C	109661393	T	C	109661393	3	2	80	1	0	0	0	0	1	0	0	0	10064	1783	62	3	2607	3	MYO16	13	109661393	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	8707549	109661393	5508485	765	54707											
F10	2159	broad.mit.edu	37	chr13	113795330	113795330	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcgcccgcgggtacacCctggctgacaacggcaaggc	13	16	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:113795330C>A	uc001vsx.2	+	5	525	c.468C>A	c.(466-468)ACC>ACA	p.T156T	F10_uc010agq.1_RNA|F10_uc001vsy.2_Silent_p.T156T|F10_uc001vsz.2_Silent_p.T156T	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	156	EGF-like 2.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			pancreas(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGGGTACACCCTGGCTGACA	0.662													A	113795330	C	A	113795330	2	1	80	1	0	0	0	0	0	0	0	1	5336	610	22	5		5	F10	13	113795330	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	4133937	113795330	1374548	766	54708											
TMCO3	55002	broad.mit.edu	37	chr13	114202753	114202753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgggcgcgaagagcgggcGtcatctctcgggaggtgagt	19	10	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:114202753G>A	uc001vtu.3	+	12	2267	c.1906G>A	c.(1906-1908)GTC>ATC	p.V636I		NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	636						integral to membrane	solute:hydrogen antiporter activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			AAGAGCGGGCGTCATCTCTCG	0.677													A	114202753	G	A	114202753	3	1	80	1	0	0	0	0	1	0	0	0	15994	1145	40	1	1948	1	TMCO3	13	114202753	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	407423	114202753	967125	767	54709											
CDC16	8881	broad.mit.edu	37	chr13	115028389	115028389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggattaccaccgtcaggCactggtgttgattcctcaga	10	11	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:115028389C>T	uc001vuk.1	+	16	1610	c.1412C>T	c.(1411-1413)GCA>GTA	p.A471V	CDC16_uc001vul.1_Missense_Mutation_p.A471V|CDC16_uc001vum.1_Missense_Mutation_p.A377V|CDC16_uc001vun.1_Missense_Mutation_p.A470V|CDC16_uc001vuo.1_Missense_Mutation_p.A419V	NM_003903	NP_003894	Q13042	CDC16_HUMAN	anaphase-promoting complex, subunit 6	471	TPR 6.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding				0	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			CACCGTCAGGCACTGGTGTTG	0.443													T	115028389	C	T	115028389	3	4	80	1	0	0	0	0	1	0	0	0	3058	710	25	2	1474	2	CDC16	13	115028389	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	825636	115028389	141489	768	54710											
OR4K15	81127	broad.mit.edu	37	chr14	20444431	20444431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacttgttacagttaggaatCgctcctctgcaagcatggcg	10	10	1	0	rs140788284	by1000genomes	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:20444431C>T	uc010tkx.1	+	1	754	c.754C>T	c.(754-756)CGC>TGC	p.R252C		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	252	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTTAGGAATCGCTCCTCTGC	0.453													T	20444431	C	T	20444431	3	4	80	1	0	0	0	0	1	0	0	0	11070	884	31	1	756	1	OR4K15	14	20444431	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08		20444431	86905109	769	54711											
PARP2	10038	broad.mit.edu	37	chr14	20822321	20822321	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctagatcttcgggtacaGgagttaataaagttgatctg	11	6	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:20822321G>T	uc001vxc.2	+	8	745	c.717G>T	c.(715-717)CAG>CAT	p.Q239H	PARP2_uc001vxd.2_Missense_Mutation_p.Q226H|PARP2_uc001vxb.1_Missense_Mutation_p.Q239H|PARP2_uc010tle.1_Translation_Start_Site	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase family, member 2	239	PARP alpha-helical.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			ovary(1)|pancreas(1)	2	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TTCGGGTACAGGAGTTAATAA	0.383								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					T	20822321	G	T	20822321	3	4	80	1	0	0	0	0	1	0	0	0	11461	991	35	5	747	5	PARP2	14	20822321	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	377890	20822321	86527219	770	54712											
TEP1	7011	broad.mit.edu	37	chr14	20851686	20851686	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagtctgaaatcagctgCccattctggtccactaacct	6	14	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:20851686C>T	uc001vxe.2	-	26	3868	c.3828G>A	c.(3826-3828)GGG>GGA	p.G1276G	TEP1_uc010ahk.2_Silent_p.G626G|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.G1168G|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1276	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AAATCAGCTGCCCATTCTGGT	0.597													T	20851686	C	T	20851686	2	4	80	1	0	0	0	0	0	0	0	1	15756	726	26	2		2	TEP1	14	20851686	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	29365	20851686	86497854	771	54713											
PSMB5	5693	broad.mit.edu	37	chr14	23495375	23495375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggatccagccatcctcccGcacgtggtagaggttgactg	12	13	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:23495375G>A	uc001wii.2	-	3	979	c.715C>T	c.(715-717)CGG>TGG	p.R239W	PSMB5_uc001wij.2_3'UTR|PSMB5_uc010tni.1_Missense_Mutation_p.R136W	NM_002797	NP_002788	P28074	PSB5_HUMAN	proteasome beta 5 subunit isoform 1	239					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity			ovary(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)	CCATCCTCCCGCACGTGGTAG	0.562													A	23495375	G	A	23495375	3	1	80	1	0	0	0	0	1	0	0	0	12680	1086	38	1	80	1	PSMB5	14	23495375	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2643689	23495375	83854165	772	54714											
MYH6	4624	broad.mit.edu	37	chr14	23855198	23855198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcctgctccgccagcttcCgggaccgctctgtctgctcc	10	19	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:23855198C>T	uc001wjv.2	-	34	5169	c.5102G>A	c.(5101-5103)CGG>CAG	p.R1701Q		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1701	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGCCAGCTTCCGGGACCGCTC	0.637													T	23855198	C	T	23855198	3	4	80	1	0	0	0	0	1	0	0	0	10038	652	23	1	741	1	MYH6	14	23855198	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	359823	23855198	83494342	773	54715											
JPH4	84502	broad.mit.edu	37	chr14	24045100	24045100	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggtggtgcgcccgtagccGtgccgccggttgcccagcca	16	16	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:24045100G>A	uc001wkq.2	-	4	1863	c.945C>T	c.(943-945)CAC>CAT	p.H315H	JPH4_uc010tnr.1_5'Flank|JPH4_uc001wkr.2_Silent_p.H315H|JPH4_uc001wks.2_Silent_p.H315H	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	junctophilin 4	315	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				ovary(1)|pancreas(1)	2	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCCCGTAGCCGTGCCGCCGGT	0.751													A	24045100	G	A	24045100	2	1	80	1	0	0	0	0	0	0	0	1	7963	1136	40	1		1	JPH4	14	24045100	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	189902	24045100	83304440	774	54716											
NYNRIN	57523	broad.mit.edu	37	chr14	24882594	24882594	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccgtgatggccccacCttggatgagtttctgaagaa	13	10	1	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:24882594C>T	uc001wpf.3	+	8	3135	c.2817C>T	c.(2815-2817)ACC>ACT	p.T939T		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	939					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						ATGGCCCCACCTTGGATGAGT	0.592													T	24882594	C	T	24882594	2	4	80	1	0	0	0	0	0	0	0	1	10796	668	24	4		4	NYNRIN	14	24882594	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	837494	24882594	82466946	775	54717											
CBLN3	643866	broad.mit.edu	37	chr14	24898055	24898055	+	Frame_Shift_Del	DEL	G	G	-													cagcaaatgccactcgcccaGggggtgcctctcccagggct							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:24898055delG	uc001wpg.3	-	1	677	c.206delC	c.(205-207)CCTfs	p.P69fs	KHNYN_uc010tpc.1_5'Flank|KHNYN_uc001wph.3_5'Flank|KHNYN_uc010alw.2_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	69	C1q.					cell junction|extracellular region|synapse				central_nervous_system(1)	1				GBM - Glioblastoma multiforme(265;0.00159)		CACTCGCCCAGGGGGTGCCTC	0.677													-	24898055	G	-	24898055	7	5	80	1	0	1	0	1	0	0	0	0	2706	1000	35	0	423	0	CBLN3	14	24898055	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	15461	24898055	82451485	776	54718											
HECTD1	25831	broad.mit.edu	37	chr14	31574621	31574621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatttgtttctgaatacccGtatgcatacaaaagtcaaac	5	10	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:31574621G>A	uc001wrc.1	-	40	7856	c.7367C>T	c.(7366-7368)ACG>ATG	p.T2456M	HECTD1_uc001wra.1_Missense_Mutation_p.T582M|HECTD1_uc001wrb.1_Missense_Mutation_p.T582M	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	2456	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTGAATACCCGTATGCATACA	0.323													A	31574621	G	A	31574621	3	1	80	1	0	0	0	0	1	0	0	0	7039	1145	40	1	481	1	HECTD1	14	31574621	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	6676566	31574621	75774919	777	54719											
HECTD1	25831	broad.mit.edu	37	chr14	31613392	31613392	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaaattgtgttttcatcCttcaaaagtacaattaggtt	8	5	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:31613392C>A	uc001wrc.1	-	17	3192	c.2703G>T	c.(2701-2703)AAG>AAT	p.K901N	HECTD1_uc001wrd.1_Missense_Mutation_p.K416N	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	901					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGTTTTCATCCTTCAAAAGTA	0.318													A	31613392	C	A	31613392	3	1	80	1	0	0	0	0	1	0	0	0	7039	680	24	5	5237	5	HECTD1	14	31613392	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	38771	31613392	75736148	778	54720											
ARHGAP5	394	broad.mit.edu	37	chr14	32562545	32562545	+	Frame_Shift_Del	DEL	T	T	-													gttactgacagccaagcagaTttttttgaaaatgaggctat							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:32562545delT	uc001wrl.2	+	2	2909	c.2670delT	c.(2668-2670)GATfs	p.D890fs	ARHGAP5_uc001wrm.2_Frame_Shift_Del_p.D890fs|ARHGAP5_uc001wrn.2_Frame_Shift_Del_p.D890fs|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	890					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GCCAAGCAGATTTTTTTGAAA	0.403													-	32562545	T	-	32562545	7	5	80	1	0	1	0	1	0	0	0	0	886	1490	52	0	2672	0	ARHGAP5	14	32562545	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	949153	32562545	74786995	779	54721											
INSM2	84684	broad.mit.edu	37	chr14	36003563	36003563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggccccagggggcgccGcccttcttggaggaggctcc	17	15	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:36003563G>A	uc001wth.1	+	1	316	c.105G>A	c.(103-105)CCG>CCA	p.P35P		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		AGGGGGCGCCGCCCTTCTTGG	0.692													A	36003563	G	A	36003563	2	1	80	1	0	0	0	0	0	0	0	1	7772	1074	38	1		1	INSM2	14	36003563	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	3441018	36003563	71345977	780	54722			2	23		3	3	153	N	G_C	1.757979e-05
INSM2	84684	broad.mit.edu	37	chr14	36003662	36003662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggggttgacggcggaggcGgcccgggaacagtcggggtc	21	9	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:36003662G>A	uc001wth.1	+	1	415	c.204G>A	c.(202-204)GCG>GCA	p.A68A		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		CGGCGGAGGCGGCCCGGGAAC	0.761													A	36003662	G	A	36003662	2	1	80	1	0	0	0	0	0	0	0	1	7772	1103	39	1		1	INSM2	14	36003662	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	99	36003662	71345878	781	54723			2	23		3	3	153	N	G_C	1.757979e-05
INSM2	84684	broad.mit.edu	37	chr14	36003715	36003715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggggtgagcccggggaCgggcgggcgggaaggcgcgg	26	9	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:36003715C>T	uc001wth.1	+	1	468	c.257C>T	c.(256-258)ACG>ATG	p.T86M		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		AGCCCGGGGACGGGCGGGCGG	0.662													T	36003715	C	T	36003715	3	4	80	1	0	0	0	0	1	0	0	0	7772	536	19	1	259	1	INSM2	14	36003715	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	53	36003715	71345825	782	54724			2	23		3	3	153	N	G_C	1.757979e-05
BRMS1L	84312	broad.mit.edu	37	chr14	36334967	36334967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacagagtgaaaacggaaCgtaagtcatttagtctgagt	10	7	2	3	rs150621893		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:36334967C>T	uc001wtl.2	+	8	853	c.727C>T	c.(727-729)CCA>TCA	p.P243S		NM_032352	NP_115728	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	243					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				skin(1)	1	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		GAAAACGGAACGTAAGTCATT	0.348													T	36334967	C	T	36334967	3	4	80	1	0	0	0	0	1	0	0	0	1517	550	19	1	757	1	BRMS1L	14	36334967	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	331252	36334967	71014573	783	54725											
PAX9	5083	broad.mit.edu	37	chr14	37145597	37145597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacattccggcatcgctggcGttcaagggaatgcaggcagc	14	11	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:37145597G>A	uc001wty.3	+	5	1683	c.966G>A	c.(964-966)GCG>GCA	p.A322A	PAX9_uc010amq.2_RNA	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	322					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CATCGCTGGCGTTCAAGGGAA	0.572													A	37145597	G	A	37145597	2	1	80	1	0	0	0	0	0	0	0	1	11486	1132	40	1		1	PAX9	14	37145597	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	810630	37145597	70203943	784	54726											
NIN	51199	broad.mit.edu	37	chr14	51239111	51239113	+	In_Frame_Del	DEL	AGG	AGG	-													gcccatcccatcatccaggcAggagaagacccgaaagccaa							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:51239110_51239112CAGG>C	uc001wyi.3	-	8	1079_1081	c.888_890CCTG>G	c.(886-891)tcctgc>tcGc	p.C297del	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_In_Frame_Del_p.C297del|NIN_uc001wyk.3_In_Frame_Del_p.C297del|NIN_uc001wyo.3_In_Frame_Del_p.C297del|NIN_uc001wyp.1_In_Frame_Del_p.C259del	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	297					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ATCATCCAGGCAGGAGAAGACCC	0.522			T	PDGFRB	MPD								-	51239113	AGG	-	51239111	7	5	80	1	0	1	0	1	0	0	0	0	10417	188	7	0	5752	0	NIN	14	51239111	In_Frame_Del	DEL	AGG	TCGA-BR-8368-01A-11D-2340-08	14093514	51239111	56110429	785	54727											
NID2	22795	broad.mit.edu	37	chr14	52481919	52481919	+	Frame_Shift_Del	DEL	G	G	-													gggcacgtactggtcatcccGgggggtgccaccgtagtgct							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:52481918_52481918CG>C	uc001wzo.3	-	14	3338	c.3104_3104CG>G	c.(3103-3105)cggfs	p.R1035fs	NID2_uc010tqs.2_Frame_Shift_Del_p.R987fs|NID2_uc010tqt.1_Frame_Shift_Del_p.R1035fs|NID2_uc001wzp.3_Frame_Shift_Del_p.R1035fs	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	1035	Thyroglobulin type-1 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGGTCATCCCGGGGGGTGCC	0.627													-	52481919	G	-	52481919	7	5	80	1	0	1	0	1	0	0	0	0	10415	1115	39	0	1056	0	NID2	14	52481919	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	1242808	52481919	54867621	786	54728											
SAMD4A	23034	broad.mit.edu	37	chr14	55169148	55169148	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actctgatgacaagctcaatGggtggcagaactctcgggat	12	9	3	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:55169148G>T	uc001xbb.2	+	2	563	c.562G>T	c.(562-564)GGG>TGG	p.G188W	SAMD4A_uc001xba.2_Missense_Mutation_p.G188W|SAMD4A_uc001xbc.2_Missense_Mutation_p.G188W|SAMD4A_uc001xbf.1_RNA|SAMD4A_uc001xbe.2_Missense_Mutation_p.G88W	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4 isoform	189					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity				0						CAAGCTCAATGGGTGGCAGAA	0.527													T	55169148	G	T	55169148	3	4	80	1	0	0	0	0	1	0	0	0	13821	1348	47	5	568	5	SAMD4A	14	55169148	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2687229	55169148	52180392	787	54729											
KTN1	3895	broad.mit.edu	37	chr14	56101252	56101252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgttttcaggcagtctgCagaactaaataaactacgcc	7	10	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:56101252C>T	uc001xcb.2	+	10	1639	c.1337C>T	c.(1336-1338)GCA>GTA	p.A446V	KTN1_uc001xce.2_Missense_Mutation_p.A446V|KTN1_uc001xcc.2_Missense_Mutation_p.A446V|KTN1_uc001xcd.2_Missense_Mutation_p.A446V|KTN1_uc010trb.1_Missense_Mutation_p.A446V|KTN1_uc001xcf.1_Missense_Mutation_p.A446V	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	kinectin 1 isoform a	446	Lumenal (Potential).|Potential.				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						AGGCAGTCTGCAGAACTAAAT	0.378			T	RET	papillary thryoid								T	56101252	C	T	56101252	3	4	80	1	0	0	0	0	1	0	0	0	8585	710	25	2	1367	2	KTN1	14	56101252	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	932104	56101252	51248288	788	54730											
GPR135	64582	broad.mit.edu	37	chr14	59931390	59931390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgaagaagcggctggcGgcgcagaagccgcgccaggg	19	11	0	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:59931390G>A	uc010apj.2	-	1	670	c.555C>T	c.(553-555)GCC>GCT	p.A185A	GPR135_uc001xed.2_RNA	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	185	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.134)		AGCGGCTGGCGGCGCAGAAgc	0.572													A	59931390	G	A	59931390	2	1	80	1	0	0	0	0	0	0	0	1	6644	1103	39	1		1	GPR135	14	59931390	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	3830138	59931390	47418150	789	54731											
KCNH5	27133	broad.mit.edu	37	chr14	63473193	63473193	+	Splice_Site	DEL	G	G	-													aattccccatacataaaactGggggggaaaaaaaacaaaca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:63473192_63473192TG>T	uc001xfx.3	-	3	249	c.198_splice	c.e3-1	p.S66_splice	KCNH5_uc001xfy.3_Splice_Site_p.S66_splice|KCNH5_uc001xfz.1_Splice_Site_p.S8_splice|KCNH5_uc001xga.3_Splice_Site_p.S8_splice	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	66	PAS.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TACATAAAACTGGGGGGGAAA	0.353													-	63473193	G	-	63473193	8	5	80	1	0	1	0	1	0	0	1	0	8035	1363	47	0		0	KCNH5	14	63473193	Splice_Site	DEL	G	TCGA-BR-8368-01A-11D-2340-08	3541803	63473193	43876347	790	54732											
SYNE2	23224	broad.mit.edu	37	chr14	64653226	64653226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttaacccggcacgttctcGtggaagatgtgatggttttg	12	8	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:64653226G>A	uc001xgm.2	+	97	17871	c.17641G>A	c.(17641-17643)GTG>ATG	p.V5881M	SYNE2_uc001xgl.2_Missense_Mutation_p.V5881M|SYNE2_uc010apy.2_Missense_Mutation_p.V2266M|SYNE2_uc001xgn.2_Missense_Mutation_p.V843M|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Translation_Start_Site|SYNE2_uc001xgq.2_Missense_Mutation_p.V246M	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5881	Spectrin 4.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCACGTTCTCGTGGAAGATGT	0.473													A	64653226	G	A	64653226	3	1	80	1	0	0	0	0	1	0	0	0	15443	1145	40	1	18023	1	SYNE2	14	64653226	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1180033	64653226	42696314	791	54733											
SPTB	6710	broad.mit.edu	37	chr14	65239523	65239523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggtctgcccacatctcGttcagcccgtccttccactc	8	17	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:65239523G>A	uc001xht.2	-	25	5382	c.5328C>T	c.(5326-5328)AAC>AAT	p.N1776N	SPTB_uc001xhr.2_Silent_p.N1776N|SPTB_uc001xhs.2_Silent_p.N1776N|SPTB_uc001xhu.2_Silent_p.N1776N|SPTB_uc010aqi.2_Silent_p.N437N	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	1776	Spectrin 15.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCCACATCTCGTTCAGCCCGT	0.637													A	65239523	G	A	65239523	2	1	80	1	0	0	0	0	0	0	0	1	15117	1136	40	1		1	SPTB	14	65239523	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	586297	65239523	42110017	792	54734											
MAX	4149	broad.mit.edu	37	chr14	65543322	65543322	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttggtgtagaggctgttgtCtgaggaggggtagttggtct	19	3	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:65543322C>T	uc001xif.1	-	5	525	c.355G>A	c.(355-357)GAC>AAC	p.D119N	MAX_uc001xic.1_Intron|MAX_uc001xie.1_3'UTR|MAX_uc010aql.1_Silent_p.Q32Q|MAX_uc001xig.1_Missense_Mutation_p.D110N|MAX_uc001xih.1_RNA	NM_002382	NP_002373	P61244	MAX_HUMAN	MAX protein isoform a	119					transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(1)	1				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		AGGCTGTTGTCTGAGGAGGGG	0.582													T	65543322	C	T	65543322	3	4	80	1	0	0	0	0	1	0	0	0	9339	913	32	4	216	4	MAX	14	65543322	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	303799	65543322	41806218	793	54735											
PLEKHH1	57475	broad.mit.edu	37	chr14	68045999	68045999	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actccttgcccttcagcatcCccgtgcactttaccaacggg	7	17	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:68045999C>A	uc001xjl.1	+	21	3140	c.2998C>A	c.(2998-3000)CCC>ACC	p.P1000T	PLEKHH1_uc010tsw.1_Missense_Mutation_p.P568T|PLEKHH1_uc001xjn.1_Missense_Mutation_p.P515T|PLEKHH1_uc010tsx.1_5'UTR|PLEKHH1_uc001xjo.1_5'Flank|PLEKHH1_uc001xjp.1_5'Flank	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	1000	FERM.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CTTCAGCATCCCCGTGCACTT	0.612													A	68045999	C	A	68045999	3	1	80	1	0	0	0	0	1	0	0	0	12076	623	22	5	3076	5	PLEKHH1	14	68045999	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2502677	68045999	39303541	794	54736											
PCNX	22990	broad.mit.edu	37	chr14	71555941	71555941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcctctatggattgcatgCcctatttaaaggagatttcc	7	9	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:71555941C>T	uc001xmo.2	+	30	5917	c.5471C>T	c.(5470-5472)GCC>GTC	p.A1824V	PCNX_uc010are.1_Missense_Mutation_p.A1713V|PCNX_uc010arf.1_Missense_Mutation_p.A612V	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1824						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGATTGCATGCCCTATTTAAA	0.343													T	71555941	C	T	71555941	3	4	80	1	0	0	0	0	1	0	0	0	11591	739	26	2	5589	2	PCNX	14	71555941	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3509942	71555941	35793599	795	54737											
SIPA1L1	26037	broad.mit.edu	37	chr14	72117105	72117105	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaagctggacagagcacTgaagaagagatgtacaacaa	11	7	0	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:72117105T>C	uc001xms.2	+	5	2220	c.1872T>C	c.(1870-1872)ACT>ACC	p.T624T	SIPA1L1_uc001xmt.2_Silent_p.T624T|SIPA1L1_uc001xmu.2_Silent_p.T624T|SIPA1L1_uc001xmv.2_Silent_p.T624T|SIPA1L1_uc010ttm.1_Silent_p.T99T	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	624	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GACAGAGCACTGAAGAAGAGA	0.443													C	72117105	T	C	72117105	2	2	80	1	0	0	0	0	0	0	0	1	14329	1567	55	3		3	SIPA1L1	14	72117105	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	561164	72117105	35232435	796	54738											
RGS6	9628	broad.mit.edu	37	chr14	72976908	72976908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagatggggcttctctttcGatgagatattgaaggaccag	12	6	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:72976908G>A	uc001xna.3	+	14	1535	c.1012G>A	c.(1012-1014)GAT>AAT	p.D338N	RGS6_uc010ttn.1_Missense_Mutation_p.D338N|RGS6_uc001xmx.3_Missense_Mutation_p.D338N|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.D338N|RGS6_uc010ttp.1_Missense_Mutation_p.D269N|RGS6_uc001xmz.1_Missense_Mutation_p.D199N	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	338	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CTTCTCTTTCGATGAGATATT	0.458													A	72976908	G	A	72976908	3	1	80	1	0	0	0	0	1	0	0	0	13309	1058	37	1	1062	1	RGS6	14	72976908	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	859803	72976908	34372632	797	54739											
PAPLN	89932	broad.mit.edu	37	chr14	73717689	73717689	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtgtgggggtgacggcacGacctgctaccccgtcgcagg	17	13	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:73717689G>A	uc010ttx.1	+	6	703	c.540G>A	c.(538-540)ACG>ACA	p.T180T	PAPLN_uc001xnw.3_Silent_p.T180T|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.T180T	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	180						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GTGACGGCACGACCTGCTACC	0.642													A	73717689	G	A	73717689	2	1	80	1	0	0	0	0	0	0	0	1	11428	1045	37	1		1	PAPLN	14	73717689	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	740781	73717689	33631851	798	54740											
C14orf115	55237	broad.mit.edu	37	chr14	74824474	74824474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttccaccgggggggcgtcGtgccacttcagcagttcctc	13	15	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:74824474G>A	uc001xpw.3	+	2	1179	c.988G>A	c.(988-990)GTG>ATG	p.V330M		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	330					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		GGGGGGCGTCGTGCCACTTCA	0.662													A	74824474	G	A	74824474	3	1	80	1	0	0	0	0	1	0	0	0	1740	1145	40	1	990	1	C14orf115	14	74824474	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1106785	74824474	32525066	799	54741											
RPS6KL1	83694	broad.mit.edu	37	chr14	75376598	75376598	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgctggtcctggctgtGggttcaccttcagcctccct	13	13	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:75376598G>A	uc010tux.1	-	7	1446	c.918C>T	c.(916-918)CCC>CCT	p.P306P	RPS6KL1_uc001xqx.1_Silent_p.P58P|RPS6KL1_uc001xqw.2_Silent_p.P275P|RPS6KL1_uc010asd.1_RNA	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	306	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00658)		TCCTGGCTGTGGGTTCACCTT	0.632													A	75376598	G	A	75376598	2	1	80	1	0	0	0	0	0	0	0	1	13659	1335	47	4		4	RPS6KL1	14	75376598	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	552124	75376598	31972942	800	54742											
SNW1	22938	broad.mit.edu	37	chr14	78187146	78187146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aataacttcactgatatcccGattttcatttctctgaagtt	4	9	3	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:78187146G>A	uc001xuf.2	-	12	1183	c.1156C>T	c.(1156-1158)CGG>TGG	p.R386W	SNW1_uc010tvm.1_Missense_Mutation_p.R311W|SNW1_uc010asu.2_Missense_Mutation_p.R224W|SNW1_uc010tvn.1_Missense_Mutation_p.R386W	NM_012245	NP_036377	Q13573	SNW1_HUMAN	SKI-interacting protein	386					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTGATATCCCGATTTTCATTT	0.373													A	78187146	G	A	78187146	3	1	80	1	0	0	0	0	1	0	0	0	14879	1057	37	1	466	1	SNW1	14	78187146	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2810548	78187146	29162394	801	54743											
NRXN3	9369	broad.mit.edu	37	chr14	79432736	79432736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaatgacttcattgcagtcGagcttgtcaaggggtaagta	12	7	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:79432736G>A	uc001xun.2	+	9	2136	c.1645G>A	c.(1645-1647)GAG>AAG	p.E549K	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.E674K	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	922	Extracellular (Potential).|Laminin G-like 5.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CATTGCAGTCGAGCTTGTCAA	0.428													A	79432736	G	A	79432736	3	1	80	1	0	0	0	0	1	0	0	0	10667	1059	37	1	1671	1	NRXN3	14	79432736	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1245590	79432736	27916804	802	54744											
C14orf145	145508	broad.mit.edu	37	chr14	80963839	80963840	+	Frame_Shift_Ins	INS	-	-	T													ttttagctcccatattcctcINSttttttgggttgtgaacttg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:80963839_80963840insT	uc001xux.2	-	24	3438_3439	c.3267_3268insA	c.(3265-3270)AAAGAGfs	p.K1089fs	C14orf145_uc010asz.1_Intron	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	1089_1090						centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		CCATATTCCTCTTTTTTGGGTT	0.347													T	80963840	-	T	80963839	7	5	80	1	0	1	1	0	0	0	0	0	1749	922	32	0	20	0	C14orf145	14	80963839	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	1531103	80963839	26385701	803	54745											
EML5	161436	broad.mit.edu	37	chr14	89181530	89181530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttaatatgtacaacttcCgtcatatctctgttaaaaag	4	8	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:89181530C>T	uc001xxg.2	-	10	1383	c.1197G>A	c.(1195-1197)ACG>ACA	p.T399T	EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	399						cytoplasm|microtubule				ovary(3)	3						GTACAACTTCCGTCATATCTC	0.368													T	89181530	C	T	89181530	2	4	80	1	0	0	0	0	0	0	0	1	5100	639	23	1		1	EML5	14	89181530	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	8217691	89181530	18168010	804	54746											
RPS6KA5	9252	broad.mit.edu	37	chr14	91366489	91366489	+	Frame_Shift_Del	DEL	T	T	-													gactgcaaaagcttggttacTttttttatgcacacactttc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:91366488_91366488CT>C	uc001xys.2	-	10	1558	c.1343_1343AG>G	c.(1342-1344)agtfs	p.S448fs	RPS6KA5_uc010twi.1_Frame_Shift_Del_p.S369fs|RPS6KA5_uc001xyt.3_Frame_Shift_Del_p.S448fs	NM_004755	NP_004746	O75582	KS6A5_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA.	448	Protein kinase 2.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AGCTTGGTTACTTTTTTTATG	0.323													-	91366489	T	-	91366489	7	5	80	1	0	1	0	1	0	0	0	0	13654	1609	56	0	1100	0	RPS6KA5	14	91366489	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	2184959	91366489	15983051	805	54747											
RPS6KA5	9252	broad.mit.edu	37	chr14	91444703	91444703	+	Frame_Shift_Del	DEL	A	A	-													aagcataatgtaatgttaccAaaaatggcgactgcctaatg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:91444703delA	uc001xys.2	-	3	556	c.341delT	c.(340-342)TTGfs	p.L114fs	RPS6KA5_uc010twi.1_Frame_Shift_Del_p.L35fs|RPS6KA5_uc001xyt.2_Frame_Shift_Del_p.L114fs|RPS6KA5_uc010att.1_RNA	NM_004755	NP_004746	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, polypeptide 5	114	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TAATGTTACCAAAAATGGCGA	0.368													-	91444703	A	-	91444703	7	5	80	1	0	1	0	1	0	0	0	0	13654	131	5	0	2133	0	RPS6KA5	14	91444703	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	78214	91444703	15904837	806	54748											
TRIP11	9321	broad.mit.edu	37	chr14	92472698	92472698	+	Frame_Shift_Del	DEL	T	T	-													cttcaagttgatgaactctcTttttttcatcatttagatct							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:92472698delT	uc001xzy.2	-	11	2410	c.1622delA	c.(1621-1623)AAGfs	p.K541fs	TRIP11_uc010auf.1_Frame_Shift_Del_p.K277fs	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	541	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		ATGAACTCTCTTTTTTTCATC	0.303			T	PDGFRB	AML								-	92472698	T	-	92472698	7	5	80	1	0	1	0	1	0	0	0	0	16552	1609	56	0	4361	0	TRIP11	14	92472698	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	1027995	92472698	14876842	807	54749											
KIAA1409	57578	broad.mit.edu	37	chr14	94046501	94046501	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgtctttcagatggagTtacaagatgatggaatcacg	11	5	3	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:94046501T>C	uc001ybv.1	+	16	1992	c.1909T>C	c.(1909-1911)TTA>CTA	p.L637L	KIAA1409_uc001ybs.1_Silent_p.L637L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	814						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		TCAGATGGAGTTACAAGATGA	0.408													C	94046501	T	C	94046501	2	2	80	1	0	0	0	0	0	0	0	1	8230	1722	60	3		3	KIAA1409	14	94046501	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	1573803	94046501	13303039	808	54750											
SERPINA6	866	broad.mit.edu	37	chr14	94776185	94776185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagacagtcccattgcccaCgtagttcatctgcaccagct	8	14	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:94776185C>T	uc001ycv.2	-	3	876	c.772G>A	c.(772-774)GTG>ATG	p.V258M	SERPINA6_uc010auv.2_RNA	NM_001756	NP_001747	P08185	CBG_HUMAN	corticosteroid binding globulin precursor	258					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			skin(3)|ovary(1)|central_nervous_system(1)	5		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CCATTGCCCACGTAGTTCATC	0.557													T	94776185	C	T	94776185	3	4	80	1	0	0	0	0	1	0	0	0	14093	536	19	1	457	1	SERPINA6	14	94776185	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	729684	94776185	12573355	809	54751											
PAPOLA	10914	broad.mit.edu	37	chr14	97002284	97002284	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccacaacagaactccacGtacaatgtgtccgtttcaac	5	14	1	1	rs144379355		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:97002284G>A	uc001yfq.2	+	11	1188	c.978G>A	c.(976-978)ACG>ACA	p.T326T	PAPOLA_uc001yfr.2_Silent_p.T326T|PAPOLA_uc010twv.1_Silent_p.T326T|PAPOLA_uc010avp.2_Silent_p.T76T	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	326					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AGAACTCCACGTACAATGTGT	0.403													A	97002284	G	A	97002284	2	1	80	1	0	0	0	0	0	0	0	1	11429	1132	40	1		1	PAPOLA	14	97002284	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2226099	97002284	10347256	810	54752											
PPP2R5C	5527	broad.mit.edu	37	chr14	102368059	102368059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatttcttttgtaggtgGtgatggcacttctcaaatac	9	7	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:102368059G>A	uc001yko.2	+	9	996	c.856G>A	c.(856-858)GTG>ATG	p.V286M	PPP2R5C_uc010txr.1_Missense_Mutation_p.V317M|PPP2R5C_uc001ykk.2_Missense_Mutation_p.V341M|PPP2R5C_uc010txt.1_Missense_Mutation_p.V276M|PPP2R5C_uc001ykn.2_Missense_Mutation_p.V286M|PPP2R5C_uc001ykp.2_Missense_Mutation_p.V286M|PPP2R5C_uc001ykq.2_Missense_Mutation_p.V184M	NM_002719	NP_002710	Q13362	2A5G_HUMAN	gamma isoform of regulatory subunit B56, protein	286					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity			ovary(1)|breast(1)	2						TTTGTAGGTGGTGATGGCACT	0.453													A	102368059	G	A	102368059	3	1	80	1	0	0	0	0	1	0	0	0	12394	1261	44	4	1259	4	PPP2R5C	14	102368059	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	5365775	102368059	4981481	811	54753											
CDCA4	55038	broad.mit.edu	37	chr14	105478029	105478029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctggggtgccactgtgcGccacgtcccatcctgcgtca	12	16	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:105478029G>A	uc001yqa.2	-	2	334	c.238C>T	c.(238-240)CGC>TGC	p.R80C	CDCA4_uc001yqb.2_Missense_Mutation_p.R80C	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	80						nucleus				ovary(1)	1		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		GCCACTGTGCGCCACGTCCCA	0.657													A	105478029	G	A	105478029	3	1	80	1	0	0	0	0	1	0	0	0	3088	1087	38	1	491	1	CDCA4	14	105478029	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	3109970	105478029	1871511	812	54754											
C15orf2	23742	broad.mit.edu	37	chr15	24921893	24921893	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cccagctccctaggcttgccGattccgctgatgtccggaaa	10	15	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:24921893G>T	uc001ywo.2	+	1	1353	c.879G>T	c.(877-879)CCG>CCT	p.P293P		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	293	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TAGGCTTGCCGATTCCGCTGA	0.622													T	24921893	G	T	24921893	2	4	80	1	0	0	0	0	0	0	0	1	1784	1045	37	5		5	C15orf2	15	24921893	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08		24921893	77609499	813	54755											
HERC2	8924	broad.mit.edu	37	chr15	28437133	28437133	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgaccccgatgactgccAgcagggctcgctgccgtcaa	12	15	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:28437133A>C	uc001zbj.2	-	53	8531	c.8425T>G	c.(8425-8427)TGG>GGG	p.W2809G	HERC2_uc001zbk.1_Missense_Mutation_p.W344G	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2809	DOC.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GATGACTGCCAGCAGGGCTCG	0.552											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	28437133	A	C	28437133	3	2	80	1	0	0	0	0	1	0	0	0	7058	188	7	5	6243	5	HERC2	15	28437133	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	3515240	28437133	74094259	814	54756											
MTMR15	22909	broad.mit.edu	37	chr15	31222835	31222835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtcgagggggcctcccCgacctggtggtgtggaactc	15	13	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:31222835C>T	uc001zff.2	+	13	3168	c.2877C>T	c.(2875-2877)CCC>CCT	p.P959P	MTMR15_uc001zfe.2_Silent_p.P564P	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	959	VRR-NUC.				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		GGGGCCTCCCCGACCTGGTGG	0.562								Direct_reversal_of_damage|Editing_and_processing_nucleases					T	31222835	C	T	31222835	2	4	80	1	0	0	0	0	0	0	0	1	9943	639	23	1		1	MTMR15	15	31222835	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2785702	31222835	71308557	815	54757											
C15orf53	400359	broad.mit.edu	37	chr15	38990601	38990601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacctaactgtgccccgccGttcaccacttcctgtcttcc	5	19	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:38990601G>A	uc001zkf.1	+	2	405	c.395G>A	c.(394-396)CGT>CAT	p.R132H		NM_207444	NP_997327	Q8NAA6	CO053_HUMAN	hypothetical protein LOC400359	132											0		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		GTGCCCCGCCGTTCACCACTT	0.552													A	38990601	G	A	38990601	3	1	80	1	0	0	0	0	1	0	0	0	1801	1145	40	1	401	1	C15orf53	15	38990601	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	7767766	38990601	63540791	816	54758											
VPS18	57617	broad.mit.edu	37	chr15	41191563	41191563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgaaggtgggcttttcGgccctgctccggatctctac	12	14	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:41191563G>A	uc001zne.2	+	4	886	c.547G>A	c.(547-549)GGC>AGC	p.G183S		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	183					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGGGCTTTTCGGCCCTGCTCC	0.627													A	41191563	G	A	41191563	3	1	80	1	0	0	0	0	1	0	0	0	17191	1116	39	1	561	1	VPS18	15	41191563	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2200962	41191563	61339829	817	54759											
DUOX2	50506	broad.mit.edu	37	chr15	45392015	45392015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgaaggagacgctggccGccgtgcctcgtgacaggatg	15	11	0	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:45392015G>A	uc010bea.2	-	25	3463	c.3260C>T	c.(3259-3261)GCG>GTG	p.A1087V	DUOX2_uc001zun.2_Missense_Mutation_p.A1087V	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1087	Interaction with TXNDC11 (By similarity).|Helical; (Potential).|Ferric oxidoreductase.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GACGCTGGCCGCCGTGCCTCG	0.557													A	45392015	G	A	45392015	3	1	80	1	0	0	0	0	1	0	0	0	4801	1087	38	1	1426	1	DUOX2	15	45392015	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	4200452	45392015	57139377	818	54760											
SLC28A2	9153	broad.mit.edu	37	chr15	45545493	45545493	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacccggggctggagctcaTggtaatcaccagtttagttt	12	9	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:45545493T>C	uc001zva.2	+	2	145	c.80T>C	c.(79-81)ATG>ACG	p.M27T		NM_004212	NP_004203	O43868	S28A2_HUMAN	solute carrier family 28 (sodium-coupled	27					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			ovary(4)	4		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		CTGGAGCTCATGGTAATCACC	0.542													C	45545493	T	C	45545493	3	2	80	1	0	0	0	0	1	0	0	0	14532	1478	51	3	82	3	SLC28A2	15	45545493	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	153478	45545493	56985899	819	54761											
SLC12A1	6557	broad.mit.edu	37	chr15	48548096	48548096	+	Frame_Shift_Del	DEL	A	A	-													accacagtggaagaccacgtAaaaaacttcaggtaaagctg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:48548095_48548095TA>T	uc001zwn.4	+	15	2246	c.2030_2030TA>T	c.(2029-2031)gtafs	p.V677fs	SLC12A1_uc010uew.1_Frame_Shift_Del_p.V483fs|SLC12A1_uc010bem.3_Frame_Shift_Del_p.V677fs|SLC12A1_uc001zwq.4_Frame_Shift_Del_p.V448fs|SLC12A1_uc001zwr.4_Frame_Shift_Del_p.V404fs	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	677					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GAAGACCACGTAAAAAACTTC	0.458													-	48548096	A	-	48548096	7	5	80	1	0	1	0	1	0	0	0	0	14382	349	13	0	2189	0	SLC12A1	15	48548096	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	3002603	48548096	53983296	820	54762											
FBN1	2200	broad.mit.edu	37	chr15	48936960	48936960	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatctccagcagacgccctcGacgcatgatgccgagccgcc	11	17	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:48936960G>A	uc001zwx.1	-	2	335	c.7C>T	c.(7-9)CGA>TGA	p.R3*		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	3					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGACGCCCTCGACGCATGATG	0.706													A	48936960	G	A	48936960	4	1	80	1	0	0	0	0	0	1	0	0	5702	1066	37	1	8868	1	FBN1	15	48936960	Nonsense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	388864	48936960	53594432	821	54763											
COPS2	9318	broad.mit.edu	37	chr15	49426000	49426000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttctggatcatttttgtaCggcttggcctaaacacagta	8	8	2	0	rs148364582	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:49426000C>T	uc001zxf.2	-	9	982	c.903G>A	c.(901-903)CCG>CCA	p.P301P	COPS2_uc001zxh.2_Silent_p.P308P|COPS2_uc010ufa.1_Silent_p.P237P	NM_004236	NP_004227	P61201	CSN2_HUMAN	COP9 constitutive photomorphogenic homolog	301	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		CATTTTTGTACGGCTTGGCCT	0.264													T	49426000	C	T	49426000	2	4	80	1	0	0	0	0	0	0	0	1	3733	523	19	1		1	COPS2	15	49426000	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	489040	49426000	53105392	822	54764											
TRPM7	54822	broad.mit.edu	37	chr15	50885864	50885864	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagaatgaaatttgtcAtctttttcattgaaatacat	4	8	3	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:50885864A>G	uc001zyt.3	-	25	3822	c.3558T>C	c.(3556-3558)GAT>GAC	p.D1186D	TRPM7_uc010bew.1_Silent_p.D1186D	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1186	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GAAATTTGTCATCTTTTTCAT	0.338													G	50885864	A	G	50885864	2	3	80	1	0	0	0	0	0	0	0	1	16588	214	8	3		3	TRPM7	15	50885864	Silent	SNP	A	TCGA-BR-8368-01A-11D-2340-08	1459864	50885864	51645528	823	54765											
PYGO1	26108	broad.mit.edu	37	chr15	55841125	55841125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgtgtatttgccttgcGctttttcttatctgggcttc	8	10	2	0	rs147959519		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:55841125G>A	uc010bfl.1	-	2	174	c.118C>T	c.(118-120)CGC>TGC	p.R40C	PYGO1_uc002adf.1_Missense_Mutation_p.R40C	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	pygopus homolog 1	40	Nuclear localization signal (Potential).				Wnt receptor signaling pathway	nucleus	zinc ion binding	p.R40C(1)		ovary(1)|skin(1)	2				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TTTGCCTTGCGCTTTTTCTTA	0.373													A	55841125	G	A	55841125	3	1	80	1	0	0	0	0	1	0	0	0	12863	1087	38	1	1149	1	PYGO1	15	55841125	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	4955261	55841125	46690267	824	54766											
MNS1	55329	broad.mit.edu	37	chr15	56735891	56735893	+	In_Frame_Del	DEL	TCT	TCT	-													cttgaacttttgccatccgaTcttcttctctttgctgctgc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:56735891_56735893delTCT	uc002adr.2	-	6	1011_1013	c.846_848delAGA	c.(844-849)GAAGAT>GAT	p.E282del	MNS1_uc010bfo.2_In_Frame_Del_p.E150del|TEX9_uc002adp.2_Intron|TEX9_uc010ugl.1_Intron	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	282	Potential.|Glu-rich.				meiosis					ovary(1)	1				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TGCCATCCGATCTTCTTCTCTTT	0.369													-	56735893	TCT	-	56735891	7	5	80	1	0	1	0	1	0	0	0	0	9677	1435	50	0	659	0	MNS1	15	56735891	In_Frame_Del	DEL	TCT	TCGA-BR-8368-01A-11D-2340-08	894766	56735891	45795501	825	54767											
SLTM	79811	broad.mit.edu	37	chr15	59185211	59185211	+	Frame_Shift_Del	DEL	T	T	-													ccttctgtagtctttatctcTttttttatctagactagctc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:59185211delT	uc002afp.2	-	14	1871	c.1783delA	c.(1783-1785)AGAfs	p.R595fs	SLTM_uc002afn.2_Frame_Shift_Del_p.R137fs|SLTM_uc002afo.2_Frame_Shift_Del_p.R577fs|SLTM_uc002afq.2_Frame_Shift_Del_p.R164fs|SLTM_uc010bgd.2_Frame_Shift_Del_p.R164fs	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	595	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						TCTTTATCTCTTTTTTTATCT	0.343													-	59185211	T	-	59185211	7	5	80	1	0	1	0	1	0	0	0	0	14754	1617	56	0	1353	0	SLTM	15	59185211	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	2449320	59185211	43346181	826	54768											
LDHAL6B	92483	broad.mit.edu	37	chr15	59499250	59499250	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcaagcaacgcgcatcccGctcaacggcacctggctctt	9	17	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:59499250G>A	uc002agb.2	+	1	209	c.111G>A	c.(109-111)CCG>CCA	p.P37P	MYO1E_uc002aga.2_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	37					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding				0					NADH(DB00157)	CGCGCATCCCGCTCAACGGCA	0.592													A	59499250	G	A	59499250	2	1	80	1	0	0	0	0	0	0	0	1	8700	1074	38	1		1	LDHAL6B	15	59499250	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	314039	59499250	43032142	827	54769											
HERC1	8925	broad.mit.edu	37	chr15	63950763	63950763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgactgagagaagagacagCgctctcatgaccatggttct	11	10	2	5			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:63950763C>T	uc002amp.2	-	48	9727	c.9579G>A	c.(9577-9579)GCG>GCA	p.A3193A		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3193					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						GAAGAGACAGCGCTCTCATGA	0.493													T	63950763	C	T	63950763	2	4	80	1	0	0	0	0	0	0	0	1	7057	755	27	1		1	HERC1	15	63950763	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	4451513	63950763	38580629	828	54770											
CSNK1G1	53944	broad.mit.edu	37	chr15	64499785	64499785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttccaaatcatctctccGgctttgctctaaaagggaag	9	11	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:64499785G>A	uc002anf.2	-	7	1168	c.688C>T	c.(688-690)CGG>TGG	p.R230W	CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.R230W|CSNK1G1_uc002anh.1_Missense_Mutation_p.R230W|CSNK1G1_uc002anj.2_Missense_Mutation_p.R212W	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	230	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0						TCATCTCTCCGGCTTTGCTCT	0.453													A	64499785	G	A	64499785	3	1	80	1	0	0	0	0	1	0	0	0	3954	1115	39	1	604	1	CSNK1G1	15	64499785	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	549022	64499785	38031607	829	54771											
ZNF609	23060	broad.mit.edu	37	chr15	64967247	64967248	+	Frame_Shift_Ins	INS	-	-	A													ggacaagaaaaagaaagacaINSaaaaaaagaaggaatcttca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:64967246_64967247C>CA	uc002ann.3	+	3	2193_2194	c.2193_2194C>CA	c.(2191-2196)gacaaafs	p.D731fs		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	731	Poly-Lys.					nucleus	zinc ion binding	p.K734fs*12(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAAGAAAGACAAAAAAAAGAA	0.49													A	64967248	-	A	64967247	7	5	80	1	0	1	1	0	0	0	0	0	18032	131	5	0	2208	0	ZNF609	15	64967247	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	467462	64967247	37564145	830	54772											
PIF1	80119	broad.mit.edu	37	chr15	65114768	65114768	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctgtggcttggtggagggCaagctcagcctcttcacagg	15	10	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:65114768C>A	uc002ant.2	-	3	666	c.600G>T	c.(598-600)TTG>TTT	p.L200F	PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Missense_Mutation_p.L200F|PIF1_uc002anu.2_Missense_Mutation_p.L200F	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	DNA helicase homolog PIF1	200	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding				0						TGGTGGAGGGCAAGCTCAGCC	0.622													A	65114768	C	A	65114768	3	1	80	1	0	0	0	0	1	0	0	0	11883	709	25	5	1369	5	PIF1	15	65114768	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	147521	65114768	37416624	831	54773											
CLPX	10845	broad.mit.edu	37	chr15	65444827	65444827	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtcaacctccacacatacGatatcagaattagggacttc	6	11	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:65444827G>A	uc002aom.2	-	13	1824	c.1752C>T	c.(1750-1752)ATC>ATT	p.I584I	CLPX_uc010uiu.1_RNA	NM_006660	NP_006651	O76031	CLPX_HUMAN	ClpX caseinolytic protease X homolog precursor	584					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding				0						CCACACATACGATATCAGAAT	0.338													A	65444827	G	A	65444827	2	1	80	1	0	0	0	0	0	0	0	1	3556	1048	37	1		1	CLPX	15	65444827	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	330059	65444827	37086565	832	54774											
PTPLAD1	51495	broad.mit.edu	37	chr15	65863951	65863951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcacatggcttcgttacaCtctgtggattcccttatatc	7	12	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:65863951C>T	uc002apc.2	+	9	987	c.839C>T	c.(838-840)ACT>ATT	p.T280I	PTPLAD1_uc002apb.1_RNA|PTPLAD1_uc010uiw.1_Missense_Mutation_p.T225I	NM_016395	NP_057479	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain	280	Helical; (Potential).				activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding				0						CTTCGTTACACTCTGTGGATT	0.463													T	65863951	C	T	65863951	3	4	80	1	0	0	0	0	1	0	0	0	12775	565	20	4	873	4	PTPLAD1	15	65863951	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	419124	65863951	36667441	833	54775											
MAP2K1	5604	broad.mit.edu	37	chr15	66774194	66774194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccatggccaactccttcGtgggcacaaggtcctacatg	9	14	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:66774194G>A	uc010bhq.2	+	6	1145	c.670G>A	c.(670-672)GTG>ATG	p.V224M	MAP2K1_uc010ujp.1_Missense_Mutation_p.V202M	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	224	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						CAACTCCTTCGTGGGCACAAG	0.552									Cardiofaciocutaneous_syndrome				A	66774194	G	A	66774194	3	1	80	1	0	0	0	0	1	0	0	0	9236	1145	40	1	692	1	MAP2K1	15	66774194	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	910243	66774194	35757198	834	54776											
IQCH	64799	broad.mit.edu	37	chr15	67782375	67782375	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttatattatatgagcAcctgaagagacacaagttgg	9	5	0	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:67782375A>G	uc002aqo.1	+	19	2881	c.2834A>G	c.(2833-2835)CAC>CGC	p.H945R	IQCH_uc002aqq.1_Missense_Mutation_p.H602R|IQCH_uc002aqp.1_Intron|uc002aqr.1_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	945										skin(3)|ovary(1)	4				Colorectal(3;0.0856)		TTATATGAGCACCTGAAGAGA	0.333													G	67782375	A	G	67782375	3	3	80	1	0	0	0	0	1	0	0	0	7811	159	6	3	3036	3	IQCH	15	67782375	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	1008181	67782375	34749017	835	54777											
GLCE	26035	broad.mit.edu	37	chr15	69548149	69548149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggtatggtctgaatatgCgttgcttggcagctcgggtc	14	7	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:69548149C>T	uc002ary.1	+	3	232	c.4C>T	c.(4-6)CGT>TGT	p.R2C		NM_015554	NP_056369	O94923	GLCE_HUMAN	D-glucuronyl C5-epimerase	2	Cytoplasmic (Potential).				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			ovary(2)	2						TCTGAATATGCGTTGCTTGGC	0.373													T	69548149	C	T	69548149	3	4	80	1	0	0	0	0	1	0	0	0	6432	768	27	1	6	1	GLCE	15	69548149	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1765774	69548149	32983243	836	54778											
CSPG4	1464	broad.mit.edu	37	chr15	75980690	75980690	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accctcaggcaccacgaggaGgacattggtgaggacaggcg	15	11	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:75980690G>T	uc002baw.2	-	3	2809	c.2716C>A	c.(2716-2718)CTC>ATC	p.L906I		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	906	Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|CSPG 5.|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						ACCACGAGGAGGACATTGGTG	0.557													T	75980690	G	T	75980690	3	4	80	1	0	0	0	0	1	0	0	0	3960	1000	35	5	4284	5	CSPG4	15	75980690	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	6432541	75980690	26550702	837	54779											
CSPG4	1464	broad.mit.edu	37	chr15	75981406	75981406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtcgcaaccctgtgctgCggtggatctgtatggccggc	14	13	1	0	rs144233988		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:75981406C>T	uc002baw.2	-	3	2093	c.2000G>A	c.(1999-2001)CGC>CAC	p.R667H		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	667	CSPG 3.|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						CCCTGTGCTGCGGTGGATCTG	0.667													T	75981406	C	T	75981406	3	4	80	1	0	0	0	0	1	0	0	0	3960	768	27	1	5000	1	CSPG4	15	75981406	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	716	75981406	26549986	838	54780											
ISL2	64843	broad.mit.edu	37	chr15	76630254	76630254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccagtacctggacgagaCgtgcacgtgcttcgtgagag	14	11	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:76630254C>T	uc002bbw.1	+	2	272	c.194C>T	c.(193-195)ACG>ATG	p.T65M		NM_145805	NP_665804	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	65	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CTGGACGAGACGTGCACGTGC	0.667													T	76630254	C	T	76630254	3	4	80	1	0	0	0	0	1	0	0	0	7857	536	19	1	200	1	ISL2	15	76630254	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	648848	76630254	25901138	839	54781											
SGK269	79834	broad.mit.edu	37	chr15	77407138	77407138	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctgcaggcccaaagcctTgggcagtccccccaggctgg	13	16	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:77407138T>C	uc002bcm.2	-	6	4909	c.4601A>G	c.(4600-4602)CAA>CGA	p.Q1534R		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	1534	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		CCCAAAGCCTTGGGCAGTCCC	0.562													C	77407138	T	C	77407138	3	2	80	1	0	0	0	0	1	0	0	0	14211	1812	63	3	643	3	SGK269	15	77407138	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	776884	77407138	25124254	840	54782											
HMG20A	10363	broad.mit.edu	37	chr15	77771648	77771648	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgagaagttgtgaacagactCgatcgttagggaatggtgag	15	5	0	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:77771648C>T	uc002bcr.2	+	10	1236	c.1035C>T	c.(1033-1035)CTC>CTT	p.L345L	HMG20A_uc002bcs.2_Silent_p.L345L	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN	high-mobility group 20A	345					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						TGAACAGACTCGATCGTTAGG	0.363													T	77771648	C	T	77771648	2	4	80	1	0	0	0	0	0	0	0	1	7221	871	31	1		1	HMG20A	15	77771648	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	364510	77771648	24759744	841	54783											
RASGRF1	5923	broad.mit.edu	37	chr15	79291158	79291158	+	Frame_Shift_Del	DEL	G	G	-													tgtctccattcctctggtctGggggaaaccctggcagcatg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:79291158delG	uc002beq.2	-	19	3179	c.2804delC	c.(2803-2805)CCAfs	p.P935fs	RASGRF1_uc002bep.2_Frame_Shift_Del_p.P919fs|RASGRF1_uc010blm.1_Frame_Shift_Del_p.P844fs|RASGRF1_uc002ber.3_Frame_Shift_Del_p.P919fs|RASGRF1_uc010unh.1_Frame_Shift_Del_p.P330fs|RASGRF1_uc002beo.2_Frame_Shift_Del_p.P151fs	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	937					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						CCTCTGGTCTGGGGGAAACCC	0.567													-	79291158	G	-	79291158	7	5	80	1	0	1	0	1	0	0	0	0	13072	1348	47	0	1057	0	RASGRF1	15	79291158	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	1519510	79291158	23240234	842	54784											
MTHFS	10588	broad.mit.edu	37	chr15	80137709	80137709	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagataggcatcatagTagcccttgcccctccccagt	8	15	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:80137709T>C	uc002bex.3	-	3	495	c.455A>G	c.(454-456)TAC>TGC	p.Y152C	MTHFS_uc002bey.2_RNA	NM_006441	NP_006432	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase	152	Substrate binding.|ATP.				folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding				0				all cancers(203;0.00467)		GGCATCATAGTAGCCCTTGCC	0.517													C	80137709	T	C	80137709	3	2	80	1	0	0	0	0	1	0	0	0	9932	1638	57	3	160	3	MTHFS	15	80137709	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	846551	80137709	22393683	843	54785											
PDE8A	5151	broad.mit.edu	37	chr15	85658682	85658682	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttatcaggatggtttgcgaAgactatcagggaatgaatat	11	4	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:85658682A>C	uc002blh.2	+	15	1552	c.1363A>C	c.(1363-1365)AGA>CGA	p.R455R	PDE8A_uc002bli.2_Silent_p.R409R|PDE8A_uc010bnc.2_Silent_p.R208R|PDE8A_uc010bnd.2_Silent_p.R208R|PDE8A_uc002blj.2_Silent_p.R75R|PDE8A_uc002blk.2_Silent_p.R75R	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	455					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TGGTTTGCGAAGACTATCAGG	0.358													C	85658682	A	C	85658682	2	2	80	1	0	0	0	0	0	0	0	1	11653	64	3	5		5	PDE8A	15	85658682	Silent	SNP	A	TCGA-BR-8368-01A-11D-2340-08	5520973	85658682	16872710	844	54786											
SLCO3A1	28232	broad.mit.edu	37	chr15	92459657	92459657	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcctacatcgacgaccaCgtgcggaggaaggactcctc	11	14	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:92459657C>T	uc002bqx.2	+	2	816	c.615C>T	c.(613-615)CAC>CAT	p.H205H	SLCO3A1_uc002bqy.2_Silent_p.H205H|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Silent_p.H147H	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	205	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			skin(1)	1	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TCGACGACCACGTGCGGAGGA	0.582													T	92459657	C	T	92459657	2	4	80	1	0	0	0	0	0	0	0	1	14728	535	19	1		1	SLCO3A1	15	92459657	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	6800975	92459657	10071735	845	54787											
SNRPA1	6627	broad.mit.edu	37	chr15	101835369	101835369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgctcgatcagctccgcCgtcagcttgaccatcctgca	9	17	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:101835369C>T	uc002bww.2	-	1	92	c.15G>A	c.(13-15)ACG>ACA	p.T5T	SNRPA1_uc002bwx.2_RNA|SNRPA1_uc010bpc.2_RNA	NM_003090	NP_003081	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	5						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			kidney(1)	1	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCAGCTCCGCCGTCAGCTTGA	0.751													T	101835369	C	T	101835369	2	4	80	1	0	0	0	0	0	0	0	1	14860	639	23	1		1	SNRPA1	15	101835369	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	9375712	101835369	696023	846	54788											
RHBDF1	64285	broad.mit.edu	37	chr16	109078	109078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccagcttctccaggtccCgcaggacagtcatctggaag	11	14	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:109078C>T	uc002cfl.3	-	20	2190	c.2042G>A	c.(2041-2043)CGG>CAG	p.R681Q		NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	681	Cytoplasmic (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CTCCAGGTCCCGCAGGACAGT	0.592													T	109078	C	T	109078	3	4	80	1	0	0	0	0	1	0	0	0	13319	652	23	1	533	1	RHBDF1	16	109078	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08		109078	90245675	847	54789											
WFIKKN1	117166	broad.mit.edu	37	chr16	683442	683442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgcggctttgagacctaCgaggcatgccagcaggcctg	14	14	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:683442C>T	uc002cht.1	+	2	1274	c.1032C>T	c.(1030-1032)TAC>TAT	p.Y344Y	WFIKKN1_uc002chs.1_3'UTR	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz	344	BPTI/Kunitz inhibitor 1.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity				0		Hepatocellular(780;0.00335)				TTGAGACCTACGAGGCATGCC	0.746													T	683442	C	T	683442	2	4	80	1	0	0	0	0	0	0	0	1	17355	547	19	1		1	WFIKKN1	16	683442	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	574364	683442	89671311	848	54790											
CACNA1H	8912	broad.mit.edu	37	chr16	1270781	1270781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggagaccctttcttggaCggtagccacagtgtgacccc	12	12	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:1270781C>T	uc002cks.2	+	35	7097	c.6849C>T	c.(6847-6849)GAC>GAT	p.D2283D	CACNA1H_uc002ckt.2_Silent_p.D2277D|CACNA1H_uc002cku.2_Silent_p.D978D|CACNA1H_uc010brj.2_Silent_p.D994D|CACNA1H_uc002ckv.2_Silent_p.D972D	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	2283	Cytoplasmic (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTTTCTTGGACGGTAGCCACA	0.652													T	1270781	C	T	1270781	2	4	80	1	0	0	0	0	0	0	0	1	2545	535	19	1		1	CACNA1H	16	1270781	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	587339	1270781	89083972	849	54791											
BAIAP3	8938	broad.mit.edu	37	chr16	1398109	1398109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccgcagttccgtgcctgcCgaggcgtgccgccgccgcgc	15	18	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:1398109C>T	uc002clk.1	+	33	3267	c.3267C>T	c.(3265-3267)GCC>GCT	p.A1089A	BAIAP3_uc002clj.2_Silent_p.A1071A|BAIAP3_uc010uuz.1_Silent_p.A1054A|BAIAP3_uc010uva.1_Silent_p.A1026A|BAIAP3_uc010uvc.1_Silent_p.A1018A	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1089	C2 2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				CCGTGCCTGCCGAGGCGTGCC	0.602													T	1398109	C	T	1398109	2	4	80	1	0	0	0	0	0	0	0	1	1304	639	23	1		1	BAIAP3	16	1398109	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	127328	1398109	88956644	850	54792											
TMEM204	79652	broad.mit.edu	37	chr16	1584316	1584316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgcggccgtgctggtgGccctggtctcactcatcctc	13	16	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:1584316G>A	uc002cmc.2	+	2	438	c.40G>A	c.(40-42)GCC>ACC	p.A14T	IFT140_uc002clz.2_Intron|IFT140_uc002cmb.2_Intron|TMEM204_uc002cmd.2_Missense_Mutation_p.A14T|TMEM204_uc010brr.1_Missense_Mutation_p.A14T	NM_024600	NP_078876	Q9BSN7	TM204_HUMAN	transmembrane protein 204	14	Helical; (Potential).				response to stress	adherens junction|integral to membrane					0		Hepatocellular(780;0.219)				CGTGCTGGTGGCCCTGGTCTC	0.682													A	1584316	G	A	1584316	3	1	80	1	0	0	0	0	1	0	0	0	16126	1203	42	2	42	2	TMEM204	16	1584316	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	186207	1584316	88770437	851	54793											
CRAMP1L	57585	broad.mit.edu	37	chr16	1709974	1709974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagggaaggtggtgaccGtcagctctcgcagcccccgc	13	17	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:1709974G>A	uc010uvh.1	+	10	2323	c.2323G>A	c.(2323-2325)GTC>ATC	p.V775I	CRAMP1L_uc002cmf.2_RNA	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	775						nucleus	DNA binding				0						GGTGGTGACCGTCAGCTCTCG	0.642													A	1709974	G	A	1709974	3	1	80	1	0	0	0	0	1	0	0	0	3846	1145	40	1	2361	1	CRAMP1L	16	1709974	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	125658	1709974	88644779	852	54794											
HAGH	3029	broad.mit.edu	37	chr16	1866933	1866933	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccggatggcggcattgccGggctccacgtggcgtgcaaa	15	13	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:1866933G>T	uc002cna.2	-	7	1115	c.708C>A	c.(706-708)CCC>CCA	p.P236P	HAGH_uc002cmz.2_Silent_p.P188P|HAGH_uc010uvp.1_Missense_Mutation_p.P200Q|HAGH_uc002cnb.1_Silent_p.P188P	NM_005326	NP_005317	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase isoform 1	236					glutathione biosynthetic process	cytoplasm|mitochondrial matrix|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			ovary(1)	1		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CGGCATTGCCGGGCTCCACGT	0.627													T	1866933	G	T	1866933	2	4	80	1	0	0	0	0	0	0	0	1	6945	1103	39	5		5	HAGH	16	1866933	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	156959	1866933	88487820	853	54795											
HS3ST6	64711	broad.mit.edu	37	chr16	1962139	1962139	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcggcggggggcctctcGcgtcacgaagtagctggggg	20	10	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:1962139G>A	uc002cnf.2	-	2	388	c.388C>T	c.(388-390)CGA>TGA	p.R130*		NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine)	130											0						GGGGCCTCTCGCGTCACGAAG	0.672													A	1962139	G	A	1962139	4	1	80	1	0	0	0	0	0	1	0	0	7369	1095	38	1	551	1	HS3ST6	16	1962139	Nonsense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	95206	1962139	88392614	854	54796											
ABCA3	21	broad.mit.edu	37	chr16	2333320	2333320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaaaccggccgacccccGgggcgctccaggcatagaag	12	17	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:2333320G>A	uc002cpy.1	-	26	4614	c.3902C>T	c.(3901-3903)CCG>CTG	p.P1301L	ABCA3_uc010bsk.1_Missense_Mutation_p.P1243L	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	1301					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				GCCGACCCCCGGGGCGCTCCA	0.652													A	2333320	G	A	2333320	3	1	80	1	0	0	0	0	1	0	0	0	33	1116	39	1	1244	1	ABCA3	16	2333320	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	371181	2333320	88021433	855	54797											
SRRM2	23524	broad.mit.edu	37	chr16	2809032	2809034	+	In_Frame_Del	DEL	AAG	AAG	-													gggagagaaagaaaagctcaAagaagaagaagcacaggtat							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:2809032_2809034delAAG	uc002crk.2	+	6	1189_1191	c.640_642delAAG	c.(640-642)AAGdel	p.K217del	SRRM2_uc002crj.1_In_Frame_Del_p.K121del|SRRM2_uc002crl.1_In_Frame_Del_p.K217del|SRRM2_uc010bsu.1_In_Frame_Del_p.K121del	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	217	Sufficient for RNA-binding.|Lys-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GAAAAGCTCAAAGAAGAAGAAGC	0.448													-	2809034	AAG	-	2809032	7	5	80	1	0	1	0	1	0	0	0	0	15168	15	1	0	658	0	SRRM2	16	2809032	In_Frame_Del	DEL	AAG	TCGA-BR-8368-01A-11D-2340-08	475712	2809032	87545721	856	54798											
CLDN9	9080	broad.mit.edu	37	chr16	3063895	3063895	+	Frame_Shift_Del	DEL	G	G	-													ctgcactgcttatgctgggcGgggggctcctctgctgcacg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:3063895delG	uc010uwo.1	+	1	1439	c.532delG	c.(532-534)GGGfs	p.G178fs		NM_020982	NP_066192	O95484	CLD9_HUMAN	claudin 9	178	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						TATGCTGGGCGGGGGGCTCCT	0.721													-	3063895	G	-	3063895	7	5	80	1	0	1	0	1	0	0	0	0	3492	1116	39	0	534	0	CLDN9	16	3063895	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	254863	3063895	87290858	857	54799											
CLDN6	9074	broad.mit.edu	37	chr16	3065456	3065456	+	Frame_Shift_Del	DEL	C	C	-													taatggctggggccctgggaCccccccgaggggcaagtgca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:3065455_3065455AC>A	uc021tbb.1	-	0	568	c.568_568GT>T	c.(568-570)tccfs	p.S190fs	CLDN6_uc002csu.4_Frame_Shift_Del_p.S190fs	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	190					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.G189R(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGGCCCTGGGACCCCCCCGAG	0.647													-	3065456	C	-	3065456	7	5	80	1	0	1	0	1	0	0	0	0	3489	494	18	0	99	0	CLDN6	16	3065456	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	1561	3065456	87289297	858	54800											
ZNF434	54925	broad.mit.edu	37	chr16	3433514	3433515	+	Frame_Shift_Ins	INS	-	-	T													tgactcatcttctcctgggaINStggggttttctcctcactct							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:3433514_3433515insT	uc002cuz.2	-	6	1597_1598	c.795_796insA	c.(793-798)CCATCCfs	p.P265fs	ZNF434_uc002cux.3_Frame_Shift_Ins_p.P476fs|ZNF434_uc010uwx.1_Frame_Shift_Ins_p.P188fs|ZNF434_uc002cuy.3_Frame_Shift_Ins_p.P188fs	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN	zinc finger protein 434	265_266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TTCTCCTGGGATGGGGTTTTCT	0.485													T	3433515	-	T	3433514	7	5	80	1	0	1	1	0	0	0	0	0	17905	333	12	0	665	0	ZNF434	16	3433514	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	368058	3433514	86921239	859	54801	229	2									
ZNF434	54925	broad.mit.edu	37	chr16	3433515	3433516	+	Frame_Shift_Ins	INS	-	-	T													gactcatcttctcctgggatINSggggttttctcctcactctc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:3433514_3433515A>AT	uc002cux.4	-	6	1687_1688	c.1428_1429T>AT	c.(1426-1431)ccatccfs	p.P476fs	ZNF434_uc010uwx.2_Frame_Shift_Ins_p.P188fs|ZNF434_uc002cuy.4_Frame_Shift_Ins_p.P188fs|ZNF434_uc002cuz.3_Frame_Shift_Ins_p.P265fs	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN	Homo sapiens zinc finger protein 434 (ZNF434), mRNA.	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTCTCCTGGGATGGGGTTTTCT	0.485													T	3433516	-	T	3433515	7	5	80	1	0	1	1	0	0	0	0	0	17905	1451	51	0	666	0	ZNF434	16	3433515	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	1	3433515	86921238	860	54802	229	2									
NLRC3	197358	broad.mit.edu	37	chr16	3594291	3594291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcagtgcacgggccaccGcacacgctccgtcatccccg	9	20	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:3594291G>A	uc010btn.2	-	17	3221	c.2810C>T	c.(2809-2811)GCG>GTG	p.A937V		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	937	LRR 12.				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						ACGGGCCACCGCACACGCTCC	0.577													A	3594291	G	A	3594291	3	1	80	1	0	0	0	0	1	0	0	0	10468	1087	38	1	407	1	NLRC3	16	3594291	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	160776	3594291	86760462	861	54803											
CREBBP	1387	broad.mit.edu	37	chr16	3781417	3781417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagggggtcggggtcgaCgatggggggcagggtgttga	24	5	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:3781417C>T	uc002cvv.2	-	30	5152	c.4948G>A	c.(4948-4950)GTC>ATC	p.V1650I	CREBBP_uc002cvw.2_Missense_Mutation_p.V1612I	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1650	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCGGGGTCGACGATGGGGGGC	0.637			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				T	3781417	C	T	3781417	3	4	80	1	0	0	0	0	1	0	0	0	3861	536	19	1	2388	1	CREBBP	16	3781417	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	187126	3781417	86573336	862	54804											
ADCY9	115	broad.mit.edu	37	chr16	4029168	4029168	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggagtagacggccagtgcGggaagcgacaccaggatggc	18	9	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:4029168G>A	uc002cvx.2	-	8	3167	c.2628C>T	c.(2626-2628)CCC>CCT	p.P876P		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	876	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						CGGCCAGTGCGGGAAGCGACA	0.582													A	4029168	G	A	4029168	2	1	80	1	0	0	0	0	0	0	0	1	301	1103	39	1		1	ADCY9	16	4029168	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	247751	4029168	86325585	863	54805											
MGRN1	23295	broad.mit.edu	37	chr16	4731601	4731601	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatctcgctgctcgaggcGctcaacggcctccgggctgt	12	17	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:4731601G>A	uc002cwz.2	+	13	1318	c.1182G>A	c.(1180-1182)GCG>GCA	p.A394A	MGRN1_uc002cxa.2_Silent_p.A394A|MGRN1_uc010btx.2_Silent_p.A373A|MGRN1_uc010btw.2_Silent_p.A373A|MGRN1_uc002cxb.2_Silent_p.A433A|MGRN1_uc010uxo.1_Silent_p.A372A|MGRN1_uc010uxp.1_Silent_p.A372A|MGRN1_uc010uxq.1_RNA	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 3	394					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						TGCTCGAGGCGCTCAACGGCC	0.647													A	4731601	G	A	4731601	2	1	80	1	0	0	0	0	0	0	0	1	9559	1074	38	1		1	MGRN1	16	4731601	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	702433	4731601	85623152	864	54806											
KIAA0430	9665	broad.mit.edu	37	chr16	15718921	15718921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacccccgagtttttcggcGtcgacactgcagcacttgag	10	15	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:15718921G>A	uc002ddr.2	-	9	2256	c.2063C>T	c.(2062-2064)ACG>ATG	p.T688M	KIAA0430_uc002ddq.2_Missense_Mutation_p.T544M|KIAA0430_uc010uzv.1_Missense_Mutation_p.T684M|KIAA0430_uc010uzw.1_Missense_Mutation_p.T686M	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	687						peroxisome	nucleotide binding|RNA binding				0						GTTTTTCGGCGTCGACACTGC	0.493													A	15718921	G	A	15718921	3	1	80	1	0	0	0	0	1	0	0	0	8177	1145	40	1	3244	1	KIAA0430	16	15718921	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	10987320	15718921	74635832	865	54807											
MYH11	4629	broad.mit.edu	37	chr16	15829334	15829334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcagccttgttcctggcgGcccgctctgagtccaggtcc	11	15	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:15829334G>A	uc002ddy.2	-	26	3502	c.3395C>T	c.(3394-3396)GCC>GTC	p.A1132V	MYH11_uc002ddv.2_Missense_Mutation_p.A1139V|MYH11_uc002ddw.2_Missense_Mutation_p.A1132V|MYH11_uc002ddx.2_Missense_Mutation_p.A1139V|MYH11_uc010bvg.2_Missense_Mutation_p.A964V	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1132	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						GTTCCTGGCGGCCCGCTCTGA	0.582			T	CBFB	AML								A	15829334	G	A	15829334	3	1	80	1	0	0	0	0	1	0	0	0	10031	1203	42	2	2622	2	MYH11	16	15829334	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	110413	15829334	74525419	866	54808											
ABCC6	368	broad.mit.edu	37	chr16	16256993	16256993	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatgtgggagcagacagaCgagtagctggctgactccaa	14	10	0	3	rs145693403		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:16256993C>T	uc002den.3	-	24	3400	c.3363G>A	c.(3361-3363)TCG>TCA	p.S1121S	ABCC6_uc010bvo.2_Intron	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	1121	ABC transmembrane type-1 2.|Cytoplasmic (By similarity).		S -> W (in PXE; autosomal dominant).		response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		AGCAGACAGACGAGTAGCTGG	0.582													T	16256993	C	T	16256993	2	4	80	1	0	0	0	0	0	0	0	1	57	523	19	1		1	ABCC6	16	16256993	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	427659	16256993	74097760	867	54809											
GP2	2813	broad.mit.edu	37	chr16	20335202	20335202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacacatggtacccgcctggGcaggccttcaccagcacctc	9	17	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:20335202G>A	uc002dgv.2	-	3	554	c.471C>T	c.(469-471)TGC>TGT	p.C157C	GP2_uc002dgw.2_Silent_p.C157C|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	157						anchored to membrane|extracellular region|plasma membrane				ovary(3)|skin(1)	4						ACCCGCCTGGGCAGGCCTTCA	0.592													A	20335202	G	A	20335202	2	1	80	1	0	0	0	0	0	0	0	1	6582	1195	42	2		2	GP2	16	20335202	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	4078209	20335202	70019551	868	54810											
CLN3	1201	broad.mit.edu	37	chr16	28495431	28495434	+	Frame_Shift_Del	DEL	AAGA	AAGA	-													cctcaggagatgtgagcaacAagaaatagctaggagtagga							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:28495431_28495434delAAGA	uc002dpo.2	-	9	1006_1009	c.683_686delTCTT	c.(682-687)TTCTTGfs	p.F228fs	uc010vct.1_Intron|CLN3_uc002dpl.2_Frame_Shift_Del_p.F150fs|CLN3_uc010vcu.1_Frame_Shift_Del_p.F128fs|CLN3_uc002dpn.2_Frame_Shift_Del_p.F129fs|CLN3_uc002dpm.2_Frame_Shift_Del_p.F174fs|CLN3_uc010vcv.1_Frame_Shift_Del_p.F204fs|CLN3_uc010byd.2_Frame_Shift_Del_p.F228fs|CLN3_uc002dpp.2_Frame_Shift_Del_p.F228fs|CLN3_uc002dpt.1_Frame_Shift_Del_p.F128fs|CLN3_uc002dpq.1_Frame_Shift_Del_p.F180fs|CLN3_uc010bye.1_Frame_Shift_Del_p.F228fs|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_Intron|CLN3_uc002dps.1_Frame_Shift_Del_p.F101fs|CLN3_uc002dpu.1_Frame_Shift_Del_p.F126fs|CLN3_uc002dpw.1_Frame_Shift_Del_p.F75fs|CLN3_uc010vcw.1_Frame_Shift_Del_p.F174fs|CLN3_uc002dqa.2_Frame_Shift_Del_p.F279fs|CLN3_uc010vcx.1_Frame_Shift_Del_p.F128fs|CLN3_uc002dpx.1_Frame_Shift_Del_p.F105fs|CLN3_uc002dpy.1_Frame_Shift_Del_p.F72fs	NM_000086	NP_000077	Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	228_229	Helical; (Potential).				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding				0						TGTGAGCAACAAGAAATAGCTAGG	0.564													-	28495434	AAGA	-	28495431	7	5	80	1	0	1	0	1	0	0	0	0	3543	131	5	0	658	0	CLN3	16	28495431	Frame_Shift_Del	DEL	AAGA	TCGA-BR-8368-01A-11D-2340-08	8160229	28495431	61859322	869	54811											
ATP2A1	487	broad.mit.edu	37	chr16	28906225	28906225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgaatgtgttcaacaCggatgtgagaagcctctcga	12	7	2	3	rs138880727	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:28906225C>T	uc002dro.1	+	12	1554	c.1370C>T	c.(1369-1371)ACG>ATG	p.T457M	uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.T457M|ATP2A1_uc002drp.1_Missense_Mutation_p.T332M	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	457	Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GTGTTCAACACGGATGTGAGA	0.592													T	28906225	C	T	28906225	3	4	80	1	0	0	0	0	1	0	0	0	1136	536	19	1	1416	1	ATP2A1	16	28906225	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	410794	28906225	61448528	870	54812											
ASPHD1	253982	broad.mit.edu	37	chr16	29912627	29912628	+	Frame_Shift_Ins	INS	-	-	T													ctaggggctgggagccgagcINStgggggtgttcgtggtgggc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:29912627_29912628insT	uc002dut.2	+	1	481_482	c.335_336insT	c.(334-336)GCTfs	p.A112fs	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_5'Flank|SEZ6L2_uc002dur.3_5'Flank|SEZ6L2_uc002duq.3_5'Flank|SEZ6L2_uc002dus.3_5'Flank|SEZ6L2_uc010vec.1_5'Flank|SEZ6L2_uc010ved.1_5'Flank|ASPHD1_uc002duu.3_RNA|ASPHD1_uc010bzi.2_RNA	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	112	Gly-rich.|Lumenal (Potential).				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity				0						GGGAGCCGAGCTGGGGGTGTTC	0.688													T	29912628	-	T	29912627	7	5	80	1	0	1	1	0	0	0	0	0	1054	797	28	0	337	0	ASPHD1	16	29912627	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	1006402	29912627	60442126	871	54813	230	2									
ASPHD1	253982	broad.mit.edu	37	chr16	29912628	29912629	+	Frame_Shift_Ins	INS	-	-	T													taggggctgggagccgagctINSgggggtgttcgtggtgggcc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:29912627_29912628C>CT	uc002dut.3	+	0	481_482	c.335_336C>CT	c.(334-336)gctfs	p.A112fs	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_5'Flank|SEZ6L2_uc010vec.2_5'Flank|SEZ6L2_uc002dur.4_5'Flank|SEZ6L2_uc002duq.4_5'Flank|SEZ6L2_uc010ved.2_5'Flank|SEZ6L2_uc002dus.4_5'Flank|ASPHD1_uc002duu.3_Non-coding_Transcript|ASPHD1_uc010bzi.2_Non-coding_Transcript	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 1 (ASPHD1), mRNA.	112	Gly-rich.				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						GGGAGCCGAGCTGGGGGTGTTC	0.688													T	29912629	-	T	29912628	7	5	80	1	0	1	1	0	0	0	0	0	1054	1567	55	0	338	0	ASPHD1	16	29912628	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	1	29912628	60442125	872	54814	230	2									
HIRIP3	8479	broad.mit.edu	37	chr16	30004974	30004974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcacccttcatgcctagCgcttccagttctgcccggag	9	17	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:30004974C>T	uc002dve.2	-	5	1856	c.1395G>A	c.(1393-1395)GCG>GCA	p.A465A	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_Missense_Mutation_p.A153T	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	465					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)	1						TCATGCCTAGCGCTTCCAGTT	0.617													T	30004974	C	T	30004974	2	4	80	1	0	0	0	0	0	0	0	1	7121	755	27	1		1	HIRIP3	16	30004974	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	92346	30004974	60349779	873	54815											
ZNF48	197407	broad.mit.edu	37	chr16	30409299	30409299	+	Frame_Shift_Del	DEL	G	G	-													caagcaccagcggacacaccGgggggagcagcccccccgac							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:30409298_30409298CG>C	uc002dya.2	+	1	1103	c.727_727CG>C	c.(727-729)cggfs	p.R243fs	ZNF48_uc021tgi.1_Frame_Shift_Del_p.R243fs|ZNF48_uc021tgj.1_Frame_Shift_Del_p.R120fs|ZNF48_uc021tgk.1_Frame_Shift_Del_p.R243fs	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R243W(2)|p.R243L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GCGGACACACCGGGGGGAGCA	0.647													-	30409299	G	-	30409299	7	5	80	1	0	1	0	1	0	0	0	0	17931	1116	39	0	734	0	ZNF48	16	30409299	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	404325	30409299	59945454	874	54816											
ZNF764	92595	broad.mit.edu	37	chr16	30567397	30567397	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagggctcccgtcccttcCctttgtctttcctttttctt	5	16	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:30567397C>T	uc002dyq.2	-	3	426	c.345G>A	c.(343-345)AGG>AGA	p.R115R	ZNF764_uc002dyr.1_Silent_p.R114R	NM_033410	NP_219363	Q96H86	ZN764_HUMAN	zinc finger protein 764	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCGTCCCTTCCCTTTGTCTTT	0.612													T	30567397	C	T	30567397	2	4	80	1	0	0	0	0	0	0	0	1	18135	622	22	4		4	ZNF764	16	30567397	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	158098	30567397	59787356	875	54817											
LONP2	83752	broad.mit.edu	37	chr16	48295348	48295348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttaggttatagcaatacGccctattaggagaattacac	8	7	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:48295348G>A	uc002efi.1	+	5	826	c.737G>A	c.(736-738)CGC>CAC	p.R246H	LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.R202H	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	246					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0						ATAGCAATACGCCCTATTAGG	0.343													A	48295348	G	A	48295348	3	1	80	1	0	0	0	0	1	0	0	0	8893	1087	38	1	755	1	LONP2	16	48295348	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	17727951	48295348	42059405	876	54818											
BBS2	583	broad.mit.edu	37	chr16	56535332	56535332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccccaggctgactgagagCgtggtgtggagcctggtatt	15	9	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:56535332C>T	uc002ejd.2	-	10	1392	c.1158G>A	c.(1156-1158)ACG>ACA	p.T386T	BBS2_uc010ccg.2_3'UTR	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2 protein	386					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			ovary(1)	1						TGACTGAGAGCGTGGTGTGGA	0.517									Bardet-Biedl_syndrome				T	56535332	C	T	56535332	2	4	80	1	0	0	0	0	0	0	0	1	1338	755	27	1		1	BBS2	16	56535332	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	8239984	56535332	33819421	877	54819											
GPR114	221188	broad.mit.edu	37	chr16	57600565	57600565	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggagccaggaaacagcccTgggggggctggagccctgag	19	10	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:57600565T>C	uc002elx.3	+	7	686	c.601T>C	c.(601-603)TGG>CGG	p.W201R	GPR114_uc010vhr.1_Missense_Mutation_p.W201R|GPR114_uc002ely.2_Missense_Mutation_p.W201R	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	201	Extracellular (Potential).|GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						GAAACAGCCCTGGGGGGGCTG	0.607													C	57600565	T	C	57600565	3	2	80	1	0	0	0	0	1	0	0	0	6631	1580	55	3	623	3	GPR114	16	57600565	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	1065233	57600565	32754188	878	54820											
TEPP	374739	broad.mit.edu	37	chr16	58018678	58018678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcccacttcgtgtcctcgGccggggagttcaagctgcct	13	14	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:58018678G>A	uc002emw.3	+	4	626	c.589G>A	c.(589-591)GCC>ACC	p.A197T	TEPP_uc002emv.3_Missense_Mutation_p.A197T	NM_199456	NP_955535	Q6URK8	TEPP_HUMAN	testis/prostate/placenta-expressed protein	197						extracellular region				kidney(1)|central_nervous_system(1)|skin(1)	3						CGTGTCCTCGGCCGGGGAGTT	0.682													A	58018678	G	A	58018678	3	1	80	1	0	0	0	0	1	0	0	0	15757	1203	42	2	603	2	TEPP	16	58018678	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	418113	58018678	32336075	879	54821											
C16orf57	79650	broad.mit.edu	37	chr16	58036445	58036445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtgctgaacatgttccCgggcaccgaggaggggcctg	16	11	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:58036445C>T	uc002emz.2	+	2	244	c.161C>T	c.(160-162)CCG>CTG	p.P54L	ZNF319_uc002emx.1_5'Flank|C16orf57_uc010via.1_Missense_Mutation_p.P54L|C16orf57_uc002emy.2_RNA|C16orf57_uc010vib.1_Missense_Mutation_p.P54L|C16orf57_uc010vic.1_Missense_Mutation_p.P3L	NM_024598	NP_078874	Q9BQ65	CP057_HUMAN	hypothetical protein LOC79650	54											0						AACATGTTCCCGGGCACCGAG	0.552													T	58036445	C	T	58036445	3	4	80	1	0	0	0	0	1	0	0	0	1821	652	23	1	167	1	C16orf57	16	58036445	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	17767	58036445	32318308	880	54822											
CDH16	1014	broad.mit.edu	37	chr16	66943236	66943236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggcatgcccttcatgcGgcccaccttgcgcatgcact	11	16	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:66943236G>A	uc002eql.2	-	17	2399	c.2326C>T	c.(2326-2328)CGC>TGC	p.R776C	CDH16_uc010cdy.2_Missense_Mutation_p.R754C|CDH16_uc002eqm.2_Missense_Mutation_p.R679C	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	776	Extracellular (Potential).|Ectodomain G.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCCTTCATGCGGCCCACCTTG	0.488													A	66943236	G	A	66943236	3	1	80	1	0	0	0	0	1	0	0	0	3101	1116	39	1	171	1	CDH16	16	66943236	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	8906791	66943236	23411517	881	54823											
RRAD	6236	broad.mit.edu	37	chr16	66959057	66959057	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caccgcggctcccgcccgctCcgctgccgccgccgttcagg	12	22	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:66959057C>A	uc002eqn.2	-	2	178	c.26G>T	c.(25-27)GGA>GTA	p.G9V	RRAD_uc002eqo.2_Missense_Mutation_p.G9V	NM_001128850	NP_001122322	P55042	RAD_HUMAN	Ras-related associated with diabetes	9					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		CCCGCCCGCTCCGCTGCCGCC	0.786													A	66959057	C	A	66959057	3	1	80	1	0	0	0	0	1	0	0	0	13671	855	30	5	916	5	RRAD	16	66959057	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	15821	66959057	23395696	882	54824											
ELMO3	79767	broad.mit.edu	37	chr16	67237066	67237066	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccaaccacaagctgctgCagtacggagacatggaggag	12	13	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:67237066C>T	uc002esa.2	+	17	1922	c.1879C>T	c.(1879-1881)CAG>TAG	p.Q627*	ELMO3_uc002esb.2_Nonsense_Mutation_p.Q610*|ELMO3_uc002esc.2_Nonsense_Mutation_p.Q461*|uc010vjf.1_5'Flank|MIR328_hsa-mir-328|MI0000804_5'Flank	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	574	PH.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		CAAGCTGCTGCAGTACGGAGA	0.642													T	67237066	C	T	67237066	4	4	80	1	0	0	0	0	0	1	0	0	5067	711	25	2	1945	2	ELMO3	16	67237066	Nonsense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	278009	67237066	23117687	883	54825											
FAM65A	79567	broad.mit.edu	37	chr16	67579579	67579579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttcagtgctactggtgcGgaatctgaactcggatgatc	11	8	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:67579579G>A	uc010vjp.1	+	19	3359	c.3263G>A	c.(3262-3264)CGG>CAG	p.R1088Q	FAM65A_uc002eth.2_Missense_Mutation_p.R1068Q|FAM65A_uc010cej.2_Missense_Mutation_p.R1071Q|FAM65A_uc010vjq.1_Missense_Mutation_p.R1082Q|FAM65A_uc002etk.2_Missense_Mutation_p.R1066Q	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	1072						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CTACTGGTGCGGAATCTGAAC	0.632													A	67579579	G	A	67579579	3	1	80	1	0	0	0	0	1	0	0	0	5599	1116	39	1	3273	1	FAM65A	16	67579579	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	342513	67579579	22775174	884	54826											
FAM65A	79567	broad.mit.edu	37	chr16	67579655	67579655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggggcgtctgcgaagggaCgggctgcgggccctcagctc	19	12	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:67579655C>T	uc010vjp.1	+	19	3435	c.3339C>T	c.(3337-3339)GAC>GAT	p.D1113D	FAM65A_uc002eth.2_Silent_p.D1093D|FAM65A_uc010cej.2_Silent_p.D1096D|FAM65A_uc010vjq.1_Silent_p.D1107D|FAM65A_uc002etk.2_Silent_p.D1091D	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	1097						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TGCGAAGGGACGGGCTGCGGG	0.622													T	67579655	C	T	67579655	2	4	80	1	0	0	0	0	0	0	0	1	5599	535	19	1		1	FAM65A	16	67579655	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	76	67579655	22775098	885	54827											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67860159	67860159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattggttcggggctgctgCgggagaaagacttcttccct	14	9	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:67860159C>T	uc002euj.2	+	10	1481	c.1087C>T	c.(1087-1089)CGG>TGG	p.R363W	TSNAXIP1_uc010cep.2_3'UTR|TSNAXIP1_uc010vjz.1_Missense_Mutation_p.R240W|TSNAXIP1_uc002euf.3_Missense_Mutation_p.R96W|TSNAXIP1_uc010vka.1_Missense_Mutation_p.R417W|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.R348W|TSNAXIP1_uc002eug.3_Missense_Mutation_p.R71W|TSNAXIP1_uc002euh.3_Missense_Mutation_p.R71W|TSNAXIP1_uc002eui.3_Missense_Mutation_p.R71W|TSNAXIP1_uc002euk.2_Missense_Mutation_p.R96W	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	363					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GGGGCTGCTGCGGGAGAAAGA	0.632													T	67860159	C	T	67860159	3	4	80	1	0	0	0	0	1	0	0	0	16629	759	27	1	1117	1	TSNAXIP1	16	67860159	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	280504	67860159	22494594	886	54828											
DDX28	55794	broad.mit.edu	37	chr16	68057092	68057092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaaagagccgcaccggcCgcgttagagccatgtttccc	13	13	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:68057092C>T	uc002evh.1	-	1	868	c.14G>A	c.(13-15)CGG>CAG	p.R5Q	DUS2L_uc002evi.2_5'Flank|DUS2L_uc002evj.2_5'Flank|DUS2L_uc010vkk.1_5'Flank	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	5	Mitochondrial targeting signal (Potential).					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		CCGCACCGGCCGCGTTAGAGC	0.682													T	68057092	C	T	68057092	3	4	80	1	0	0	0	0	1	0	0	0	4355	652	23	1	1612	1	DDX28	16	68057092	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	196933	68057092	22297661	887	54829											
SMPD3	55512	broad.mit.edu	37	chr16	68405944	68405944	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacgggtcgtctgcccgCtggcgcttctcgtaggtggt	15	13	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:68405944C>T	uc002ewa.2	-	3	563	c.141G>A	c.(139-141)CAG>CAA	p.Q47Q	SMPD3_uc010cfe.2_Silent_p.Q47Q|SMPD3_uc010vlh.1_Silent_p.Q47Q	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	47	Cytoplasmic (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CGTCTGCCCGCTGGCGCTTCT	0.647													T	68405944	C	T	68405944	2	4	80	1	0	0	0	0	0	0	0	1	14806	796	28	2		2	SMPD3	16	68405944	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	348852	68405944	21948809	888	54830											
AARS	16	broad.mit.edu	37	chr16	70295027	70295027	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtagcacataccctcctcGgacctgagcattcttcactg	8	14	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:70295027G>A	uc002eyn.1	-	13	1815	c.1705C>T	c.(1705-1707)CGA>TGA	p.R569*	AARS_uc010vlu.1_Nonsense_Mutation_p.R399*	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	569					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	TACCCTCCTCGGACCTGAGCA	0.418													A	70295027	G	A	70295027	4	1	80	1	0	0	0	0	0	1	0	0	19	1124	39	1	1237	1	AARS	16	70295027	Nonsense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1889083	70295027	20059726	889	54831											
SF3B3	23450	broad.mit.edu	37	chr16	70599405	70599405	+	Frame_Shift_Del	DEL	A	A	-													caagcttgtgaacaatggggAaaaactggagtttttgcaca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:70599404_70599404GA>G	uc002ezf.3	+	19	3014	c.2803_2803GA>G	c.(2803-2805)gaafs	p.E935fs		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	935					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GAACAATGGGGAAAAACTGGA	0.463													-	70599405	A	-	70599405	7	5	80	1	0	1	0	1	0	0	0	0	14152	246	9	0	2878	0	SF3B3	16	70599405	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	304378	70599405	19755348	890	54832											
HYDIN	54768	broad.mit.edu	37	chr16	70866938	70866938	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctgggctaatggagaaaTgaggctcaaattttttgatg	11	5	2	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:70866938T>C	uc002ezr.2	-	80	13837	c.13709A>G	c.(13708-13710)CAT>CGT	p.H4570R	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4571										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				AATGGAGAAATGAGGCTCAAA	0.418													C	70866938	T	C	70866938	3	2	80	1	0	0	0	0	1	0	0	0	7467	1464	51	3	1681	3	HYDIN	16	70866938	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	267533	70866938	19487815	891	54833											
CFDP1	10428	broad.mit.edu	37	chr16	75448501	75448501	+	Frame_Shift_Del	DEL	T	T	-													tggaatgctctgggcctttcTttttttcccttgggttttct							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:75448500_75448500CT>C	uc002fdy.3	-	1	295	c.158_158AG>G	c.(157-159)agafs	p.R53fs	CFDP1_uc002fdz.3_5'UTR|CFDP1_uc002fea.1_Frame_Shift_Del_p.R53fs	NM_006324	NP_006315	Q9UEE9	CFDP1_HUMAN	Homo sapiens craniofacial development protein 1 (CFDP1), mRNA.	53	Glu-rich.				multicellular organismal development					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						CTGGGCCTTTCTTTTTTTCCC	0.443													-	75448501	T	-	75448501	7	5	80	1	0	1	0	1	0	0	0	0	3282	1617	56	0	766	0	CFDP1	16	75448501	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	4581563	75448501	14906252	892	54834											
PLCG2	5336	broad.mit.edu	37	chr16	81929443	81929443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgggcccgatgggaagccGgtcatctaccatggctggac	15	12	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:81929443G>A	uc002fgt.2	+	13	1256	c.1104G>A	c.(1102-1104)CCG>CCA	p.P368P	PLCG2_uc010chg.1_Silent_p.P368P	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	368	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						ATGGGAAGCCGGTCATCTACC	0.602													A	81929443	G	A	81929443	2	1	80	1	0	0	0	0	0	0	0	1	12036	1103	39	1		1	PLCG2	16	81929443	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	6480942	81929443	8425310	893	54835											
KLHL36	79786	broad.mit.edu	37	chr16	84695452	84695452	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggaggcctacagcccgCagtgcaaccagtggacccgc	14	15	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:84695452C>T	uc002fig.2	+	5	1705	c.1564C>T	c.(1564-1566)CAG>TAG	p.Q522*	KLHL36_uc010chl.2_Nonsense_Mutation_p.Q458*|uc002fih.2_5'Flank	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	kelch-like 36	522	Kelch 5.									skin(2)	2						CTACAGCCCGCAGTGCAACCA	0.667													T	84695452	C	T	84695452	4	4	80	1	0	0	0	0	0	1	0	0	8389	711	25	2	1578	2	KLHL36	16	84695452	Nonsense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2766009	84695452	5659301	894	54836											
FBXO31	79791	broad.mit.edu	37	chr16	87376516	87376516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggacatcctgtggtggtcCgtctggttgcacttggtgga	15	10	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:87376516C>T	uc002fjw.2	-	5	743	c.699G>A	c.(697-699)ACG>ACA	p.T233T	FBXO31_uc010vot.1_Silent_p.T61T|FBXO31_uc002fjv.2_Silent_p.T125T	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	233					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0272)		TGTGGTGGTCCGTCTGGTTGC	0.547													T	87376516	C	T	87376516	2	4	80	1	0	0	0	0	0	0	0	1	5741	639	23	1		1	FBXO31	16	87376516	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2681064	87376516	2978237	895	54837											
ANKRD11	29123	broad.mit.edu	37	chr16	89347376	89347376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcgtcgactttgggcgaCgggaggccatagtctgggga	17	8	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:89347376C>T	uc002fmx.1	-	9	6035	c.5574G>A	c.(5572-5574)CCG>CCA	p.P1858P	ANKRD11_uc002fmy.1_Silent_p.P1858P|ANKRD11_uc002fnc.1_Silent_p.P1858P|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.P1815P	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1858	Pro-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTTTGGGCGACGGGAGGCCAT	0.622													T	89347376	C	T	89347376	2	4	80	1	0	0	0	0	0	0	0	1	639	523	19	1		1	ANKRD11	16	89347376	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1970860	89347376	1007377	896	54838											
ANKRD11	29123	broad.mit.edu	37	chr16	89350961	89350961	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttatctgacttctgcttggaGtcctcatattcgtaagtaaa	7	8	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:89350961G>C	uc002fmx.1	-	9	2450	c.1989C>G	c.(1987-1989)GAC>GAG	p.D663E	ANKRD11_uc002fmy.1_Missense_Mutation_p.D663E|ANKRD11_uc002fnc.1_Missense_Mutation_p.D663E|ANKRD11_uc002fnb.1_Missense_Mutation_p.D620E	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	663	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTGCTTGGAGTCCTCATATT	0.368													C	89350961	G	C	89350961	3	2	80	1	0	0	0	0	1	0	0	0	639	1020	36	5	6022	5	ANKRD11	16	89350961	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	3585	89350961	1003792	897	54839											
PRPF8	10594	broad.mit.edu	37	chr17	1587865	1587865	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaggaaacactccggccaTatccggagaatctggggagc	12	10	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:1587865T>C	uc002fte.2	-	2	115	c.1A>G	c.(1-3)ATG>GTG	p.M1V		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ACTCCGGCCATATCCGGAGAA	0.627													C	1587865	T	C	1587865	3	2	80	1	0	0	0	0	1	0	0	0	12575	1406	49	3	7174	3	PRPF8	17	1587865	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08		1587865	79607345	898	54840											
HIC1	3090	broad.mit.edu	37	chr17	1961105	1961105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggcgcgggcggcgacgGcgacgactacaagagcagca	17	14	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:1961105G>A	uc010cjy.2	+	2	1178	c.1178G>A	c.(1177-1179)GGC>GAC	p.G393D	HIC1_uc002fty.3_Missense_Mutation_p.G374D|HIC1_uc002ftz.3_Missense_Mutation_p.G374D	NM_001098202	NP_001091672	Q14526	HIC1_HUMAN	hypermethylated in cancer 1 isoform 2	393					multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1				READ - Rectum adenocarcinoma(1115;0.236)		GGCGGCGACGGCGACGACTAC	0.587													A	1961105	G	A	1961105	3	1	80	1	0	0	0	0	1	0	0	0	7101	1203	42	2	1184	2	HIC1	17	1961105	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	373240	1961105	79234105	899	54841											
SMG6	23293	broad.mit.edu	37	chr17	2186925	2186925	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatccccactcaccttccgCttggtctcttcaaacaagct	4	17	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:2186925C>A	uc002fub.1	-	7	2497	c.2442G>T	c.(2440-2442)AAG>AAT	p.K814N		NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	814					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4						TCACCTTCCGCTTGGTCTCTT	0.448													A	2186925	C	A	2186925	3	1	80	1	0	0	0	0	1	0	0	0	14797	796	28	5	1869	5	SMG6	17	2186925	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	225820	2186925	79008285	900	54842											
SRR	63826	broad.mit.edu	37	chr17	2224617	2224618	+	Frame_Shift_Del	DEL	AA	AA	-													cagtccagagaaaatgttgcAaaaagagttacagaagaaac							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:2224617_2224618delAA	uc002fue.1	+	5	485_486	c.417_418delAA	c.(415-420)GCAAAAfs	p.A139fs	SRR_uc002fui.1_5'UTR	NM_021947	NP_068766	Q9GZT4	SRR_HUMAN	serine racemase	139_140					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity				0		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AAAATGTTGCAAAAAGAGTTAC	0.366													-	2224618	AA	-	2224617	7	5	80	1	0	1	0	1	0	0	0	0	15165	117	5	0	431	0	SRR	17	2224617	Frame_Shift_Del	DEL	AA	TCGA-BR-8368-01A-11D-2340-08	37692	2224617	78970593	901	54843											
PLD2	5338	broad.mit.edu	37	chr17	4720288	4720288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgggacgttggggtggtcGtccatggcctaccggcccgg	19	12	0	0	rs138719274		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:4720288G>A	uc002fzc.2	+	16	1740	c.1639G>A	c.(1639-1641)GTC>ATC	p.V547I	PLD2_uc010vsj.1_Missense_Mutation_p.V404I|PLD2_uc002fzd.2_Missense_Mutation_p.V547I	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	547	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)	TGGGGTGGTCGTCCATGGCCT	0.632													A	4720288	G	A	4720288	3	1	80	1	0	0	0	0	1	0	0	0	12046	1145	40	1	1697	1	PLD2	17	4720288	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2495671	4720288	76474922	902	54844											
ZNF594	84622	broad.mit.edu	37	chr17	5085734	5085734	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaaggtctgagctctgAttgaaagttttcccacattc	8	10	3	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:5085734A>G	uc010cla.1	-	2	1974	c.1818T>C	c.(1816-1818)AAT>AAC	p.N606N		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	606	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						CTGAGCTCTGATTGAAAGTTT	0.418													G	5085734	A	G	5085734	2	3	80	1	0	0	0	0	0	0	0	1	18021	330	12	3		3	ZNF594	17	5085734	Silent	SNP	A	TCGA-BR-8368-01A-11D-2340-08	365446	5085734	76109476	903	54845											
DHX33	56919	broad.mit.edu	37	chr17	5359340	5359340	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggccccttggaagactcGgagctgctgtgcatagggca	16	10	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:5359340G>A	uc002gca.2	-	5	1014	c.1012C>T	c.(1012-1014)CGA>TGA	p.R338*	DHX33_uc002gbz.2_Nonsense_Mutation_p.R109*|DHX33_uc002gcb.2_Nonsense_Mutation_p.R165*|DHX33_uc010clf.2_Missense_Mutation_p.P151L	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	338	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|pancreas(1)	2						TGGAAGACTCGGAGCTGCTGT	0.607													A	5359340	G	A	5359340	4	1	80	1	0	0	0	0	0	1	0	0	4506	1124	39	1	1143	1	DHX33	17	5359340	Nonsense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	273606	5359340	75835870	904	54846											
SLC16A13	201232	broad.mit.edu	37	chr17	6939720	6939720	+	Frame_Shift_Del	DEL	C	C	-													agatggcgcgcaggacagagCcccccgacgggggctgggga							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:6939719_6939719GC>G	uc002geh.3	+	0	326	c.18_18GC>G	c.(16-18)gagfs	p.E6fs		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA.	6						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GCAGGACAGAGCCCCCCGACG	0.672													-	6939720	C	-	6939720	7	5	80	1	0	1	0	1	0	0	0	0	14406	739	26	0	21	0	SLC16A13	17	6939720	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	1580380	6939720	74255490	905	54847											
YBX2	51087	broad.mit.edu	37	chr17	7193637	7193637	+	Frame_Shift_Del	DEL	G	G	-													gccgtcggtagaagaagggtGgggggcaccatcgtcggggc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:7193636_7193636TG>T	uc002gfq.2	-	4	735	c.678_678CA>A	c.(676-678)ccafs	p.P226fs		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	226	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						AGAAGAAGGGTGGGGGGCACC	0.657													-	7193637	G	-	7193637	7	5	80	1	0	1	0	1	0	0	0	0	17467	1348	47	0	433	0	YBX2	17	7193637	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	253917	7193637	74001573	906	54848											
NLGN2	57555	broad.mit.edu	37	chr17	7320418	7320418	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaggtggccttctggctggAgctcgtgccccacctgcaca	12	15	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:7320418A>T	uc002ggt.1	+	7	1881	c.1808A>T	c.(1807-1809)GAG>GTG	p.E603V		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2 precursor	603	Extracellular (Potential).				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)	1		Prostate(122;0.157)				TTCTGGCTGGAGCTCGTGCCC	0.642													T	7320418	A	T	7320418	3	4	80	1	0	0	0	0	1	0	0	0	10462	304	11	5	1834	5	NLGN2	17	7320418	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	126781	7320418	73874792	907	54849											
C17orf74	201243	broad.mit.edu	37	chr17	7330302	7330302	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcctcggtgtcccggaAcgcccggcctgaggcccagg	14	18	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:7330302A>G	uc002ggw.2	+	3	1065	c.992A>G	c.(991-993)AAC>AGC	p.N331S	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	331						integral to membrane					0		Prostate(122;0.157)				GTGTCCCGGAACGCCCGGCCT	0.692													G	7330302	A	G	7330302	3	3	80	1	0	0	0	0	1	0	0	0	1879	43	2	3	1002	3	C17orf74	17	7330302	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	9884	7330302	73864908	908	54850											
KDM6B	23135	broad.mit.edu	37	chr17	7751995	7751995	+	Frame_Shift_Del	DEL	C	C	-													cacagccaccaccacccccaCcccccagcccggccagcctg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:7751995delC	uc002giw.1	+	11	2765	c.2389delC	c.(2389-2391)CCCfs	p.P797fs	KDM6B_uc002gix.2_Frame_Shift_Del_p.P99fs	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	797	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						accacccccacccccCAGCCC	0.343													-	7751995	C	-	7751995	7	5	80	1	0	1	0	1	0	0	0	0	8138	507	18	0	2419	0	KDM6B	17	7751995	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	421693	7751995	73443215	909	54851											
MYH10	4628	broad.mit.edu	37	chr17	8445463	8445463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcatggctgcagatccaGcccgaaatcgatgaagttcc	11	11	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:8445463G>A	uc002gll.2	-	13	1633	c.1537C>T	c.(1537-1539)CTG>TTG	p.L513L	MYH10_uc002glm.2_Silent_p.L523L|MYH10_uc010cnx.2_Silent_p.L522L	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	513	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						TGCAGATCCAGCCCGAAATCG	0.488													A	8445463	G	A	8445463	2	1	80	1	0	0	0	0	0	0	0	1	10030	962	34	2		2	MYH10	17	8445463	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	693468	8445463	72749747	910	54852											
RCVRN	5957	broad.mit.edu	37	chr17	9804374	9804374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcgtgttttcatcgtctGgaaggagcttcacgtcctcg	12	12	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:9804374G>A	uc002gme.1	-	2	612	c.425C>T	c.(424-426)CCA>CTA	p.P142L		NM_002903	NP_002894	P35243	RECO_HUMAN	recoverin	142					visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0						TTCATCGTCTGGAAGGAGCTT	0.448													A	9804374	G	A	9804374	3	1	80	1	0	0	0	0	1	0	0	0	13186	1348	47	4	185	4	RCVRN	17	9804374	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1358911	9804374	71390836	911	54853											
MPRIP	23164	broad.mit.edu	37	chr17	17061827	17061827	+	Frame_Shift_Del	DEL	G	G	-													gagaagcaagaggcagagctGggggagccggaccctgagca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:17061827delG	uc002gqu.1	+	14	1613	c.1557delG	c.(1555-1557)CTGfs	p.L519fs	MPRIP_uc002gqv.1_Frame_Shift_Del_p.L519fs|MPRIP_uc002gqw.1_Frame_Shift_Del_p.L274fs	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	519						cytoplasm|cytoskeleton	actin binding				0						AGGCAGAGCTGGGGGAGCCGG	0.627													-	17061827	G	-	17061827	7	5	80	1	0	1	0	1	0	0	0	0	9743	1335	47	0	1611	0	MPRIP	17	17061827	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	7257453	17061827	64133383	912	54854											
MYO15A	51168	broad.mit.edu	37	chr17	18023035	18023035	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggggtacacctacggctaCggctacgacgattacgaacc	11	14	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:18023035C>T	uc010vxh.1	+	2	1259	c.921C>T	c.(919-921)TAC>TAT	p.Y307Y		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	307	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CCTACGGCTACGGCTACGACG	0.617													T	18023035	C	T	18023035	2	4	80	1	0	0	0	0	0	0	0	1	10063	547	19	1		1	MYO15A	17	18023035	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	961208	18023035	63172175	913	54855											
DHRS7B	25979	broad.mit.edu	37	chr17	21087727	21087727	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaggcaaggccacattgtCgccatcagcagcatccaggg	13	12	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:21087727C>T	uc002gyo.2	+	5	597	c.570C>T	c.(568-570)GTC>GTT	p.V190V		NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	190	Peroxisomal (Potential).					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			pancreas(1)	1						GCCACATTGTCGCCATCAGCA	0.507													T	21087727	C	T	21087727	2	4	80	1	0	0	0	0	0	0	0	1	4496	871	31	1		1	DHRS7B	17	21087727	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3064692	21087727	60107483	914	54856											
NOS2	4843	broad.mit.edu	37	chr17	26107875	26107875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggccattggcctgcaggaCcagggggaccacatcgaagc	14	13	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:26107875C>T	uc002gzu.2	-	9	1186	c.922G>A	c.(922-924)GTC>ATC	p.V308I	NOS2_uc010crh.1_Missense_Mutation_p.V308I|NOS2_uc010wab.1_Missense_Mutation_p.V308I	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	308					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GCCTGCAGGACCAGGGGGACC	0.612													T	26107875	C	T	26107875	3	4	80	1	0	0	0	0	1	0	0	0	10543	507	18	4	2615	4	NOS2	17	26107875	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	5020148	26107875	55087335	915	54857											
NLK	51701	broad.mit.edu	37	chr17	26449740	26449740	+	Frame_Shift_Del	DEL	T	T	-													cgggaattgaagatgttgtgTttttttaagcatgataatgt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:26449740delT	uc010crj.2	+	2	782	c.570delT	c.(568-570)TGTfs	p.C190fs	NLK_uc010cri.1_RNA	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	nemo like kinase	190	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGATGTTGTGTTTTTTTAAGC	0.388													-	26449740	T	-	26449740	7	5	80	1	0	1	0	1	0	0	0	0	10466	1731	60	0	576	0	NLK	17	26449740	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	341865	26449740	54745470	916	54858											
SDF2	6388	broad.mit.edu	37	chr17	26976285	26976285	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccttcctcaccaaaagCactcacttcctagaaaatac	2	15	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:26976285C>A	uc002hbw.2	-	3	397	c.358G>T	c.(358-360)GCT>TCT	p.A120S	SDF2_uc002hbx.2_RNA	NM_006923	NP_008854	Q99470	SDF2_HUMAN	stromal cell-derived factor 2 precursor	120	MIR 2.				protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity				0	Lung NSC(42;0.00431)					TCACCAAAAGCACTCACTTCC	0.488													A	26976285	C	A	26976285	3	1	80	1	0	0	0	0	1	0	0	0	13960	710	25	5	281	5	SDF2	17	26976285	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	526545	26976285	54218925	917	54859											
SUPT6H	6830	broad.mit.edu	37	chr17	27010016	27010016	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgctacatggtagccctgcAgattgcccgtgagccccttg	11	15	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:27010016A>G	uc002hby.2	+	15	1874	c.1784A>G	c.(1783-1785)CAG>CGG	p.Q595R	SUPT6H_uc010crt.2_Missense_Mutation_p.Q595R	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	595					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					GTAGCCCTGCAGATTGCCCGT	0.557													G	27010016	A	G	27010016	3	3	80	1	0	0	0	0	1	0	0	0	15397	188	7	3	1838	3	SUPT6H	17	27010016	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	33731	27010016	54185194	918	54860											
NEK8	284086	broad.mit.edu	37	chr17	27068463	27068463	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcttggggcaaaggggcgCgaggtcgattgggaaggagg	20	6	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:27068463C>T	uc002hcp.2	+	14	1924	c.1924C>T	c.(1924-1926)CGA>TGA	p.R642*	TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.2_5'Flank	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	642	RCC1 5.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					CAAAGGGGCGCGAGGTCGATT	0.612													T	27068463	C	T	27068463	4	4	80	1	0	0	0	0	0	1	0	0	10330	760	27	1	1978	1	NEK8	17	27068463	Nonsense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	58447	27068463	54126747	919	54861											
PHF12	57649	broad.mit.edu	37	chr17	27248731	27248731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgtgaagcagactttgaCgggtaagggaacgagaccat	13	8	0	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:27248731C>T	uc002hdg.1	-	5	1341	c.811G>A	c.(811-813)GTC>ATC	p.V271I	PHF12_uc010wbb.1_Missense_Mutation_p.V253I|PHF12_uc002hdi.1_Missense_Mutation_p.V267I|PHF12_uc002hdj.1_Missense_Mutation_p.V271I|PHF12_uc010crw.1_5'UTR|PHF12_uc002hdh.1_Missense_Mutation_p.V54I	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	271	PHD-type 2; atypical.|Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CAGACTTTGACGGGTAAGGGA	0.408													T	27248731	C	T	27248731	3	4	80	1	0	0	0	0	1	0	0	0	11823	536	19	1	2273	1	PHF12	17	27248731	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	180268	27248731	53946479	920	54862											
PIPOX	51268	broad.mit.edu	37	chr17	27380441	27380441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccctttcaggatgcaattcGacagctaggaggcatagtgc	12	10	1	0	rs142705261		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:27380441G>A	uc002hdr.1	+	4	814	c.488G>A	c.(487-489)CGA>CAA	p.R163Q		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	163					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity				0	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GATGCAATTCGACAGCTAGGA	0.527													A	27380441	G	A	27380441	3	1	80	1	0	0	0	0	1	0	0	0	11943	1058	37	1	502	1	PIPOX	17	27380441	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	131710	27380441	53814769	921	54863											
CCDC55	84081	broad.mit.edu	37	chr17	28512115	28512116	+	Missense_Mutation	DNP	CG	CG	TA													acaggaagataaaccaagggCgagggaccaaagagaaagaa					rs145576936	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:28512115_28512116CG>TA	uc002heu.2	+	7	1128_1129	c.1100_1101CG>TA	c.(1099-1101)GCG>GTA	p.A367V	CCDC55_uc002hev.2_Missense_Mutation_p.A313V|CCDC55_uc010wbl.1_Missense_Mutation_p.A313V|CCDC55_uc010wbm.1_Missense_Mutation_p.A313V|CCDC55_uc002hex.2_Missense_Mutation_p.A313V	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN	coiled-coil domain containing 55 isoform 1	367					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding				0						AAACCAAGGGCGAGGGACCAAA	0.322													TA	28512116	CG	TA	28512115	3	4	80	1	0	0	0	0	1	0	0	0	2825	768	27	1	1126	1	CCDC55	17	28512115	Missense_Mutation	DNP	CG	TCGA-BR-8368-01A-11D-2340-08	1131674	28512115	52683095	922	54864											
TMEM132E	124842	broad.mit.edu	37	chr17	32957082	32957082	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccggacagtggccatccctgTcaaggtcattgccatcgagg	12	13	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:32957082T>A	uc002hif.2	+	6	1452	c.1124T>A	c.(1123-1125)GTC>GAC	p.V375D		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	375	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCCATCCCTGTCAAGGTCATT	0.572													A	32957082	T	A	32957082	3	1	80	1	0	0	0	0	1	0	0	0	16045	1667	58	5	1146	5	TMEM132E	17	32957082	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	4444967	32957082	48238128	923	54865											
GGNBP2	79893	broad.mit.edu	37	chr17	34912960	34912960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacaggatctaagtattgCcatggtggtgacatcacgcg	12	9	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:34912960C>T	uc002hnb.2	+	4	461	c.212C>T	c.(211-213)GCC>GTC	p.A71V	GGNBP2_uc002hna.2_Missense_Mutation_p.A71V	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	71					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CTAAGTATTGCCATGGTGGTG	0.443													T	34912960	C	T	34912960	3	4	80	1	0	0	0	0	1	0	0	0	6359	739	26	2	222	2	GGNBP2	17	34912960	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1955878	34912960	46282250	924	54866											
GRB7	2886	broad.mit.edu	37	chr17	37898828	37898828	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcttgccacaggaaacttcgAgaggaggagaggcgtgccac	14	10	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:37898828A>T	uc002hsr.2	+	3	415	c.165A>T	c.(163-165)CGA>CGT	p.R55R	GRB7_uc002hss.2_Silent_p.R55R|GRB7_uc010cwc.2_Silent_p.R55R|GRB7_uc002hst.2_Silent_p.R55R	NM_005310	NP_005301	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	55					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGAAACTTCGAGAGGAGGAGA	0.602													T	37898828	A	T	37898828	2	4	80	1	0	0	0	0	0	0	0	1	6759	291	11	5		5	GRB7	17	37898828	Silent	SNP	A	TCGA-BR-8368-01A-11D-2340-08	2985868	37898828	43296382	925	54867											
GSDMA	284110	broad.mit.edu	37	chr17	38126892	38126892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccttcttcgccccattgGggctacaggtttgattcaaa	8	13	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:38126892G>A	uc002htl.1	+	4	668	c.550G>A	c.(550-552)GGG>AGG	p.G184R	GSDMA_uc002htm.1_Missense_Mutation_p.G184R	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	gasdermin 1	184				APLGLQ -> LPIGAT (in Ref. 2; AAL14426).	apoptosis|induction of apoptosis	perinuclear region of cytoplasm					0						CGCCCCATTGGGGCTACAGGT	0.428													A	38126892	G	A	38126892	3	1	80	1	0	0	0	0	1	0	0	0	6816	1232	43	4	560	4	GSDMA	17	38126892	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	228064	38126892	43068318	926	54868											
KRT39	390792	broad.mit.edu	37	chr17	39123030	39123030	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgttgttagaagagatggTactaacatttgtaatcctag	10	6	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:39123030T>C	uc002hvo.1	-	1	115	c.79A>G	c.(79-81)ACC>GCC	p.T27A	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	27	Head.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)				GAAGAGATGGTACTAACATTT	0.483													C	39123030	T	C	39123030	3	2	80	1	0	0	0	0	1	0	0	0	8476	1638	57	3	1424	3	KRT39	17	39123030	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	996138	39123030	42072180	927	54869											
KRTAP4-12	83755	broad.mit.edu	37	chr17	39280073	39280073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgacagcagctggggcggCagcaggtgggctggcagcac	18	11	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:39280073C>T	uc002hwa.2	-	1	347	c.302G>A	c.(301-303)TGC>TAC	p.C101Y		NM_031854	NP_114060	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	101	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].|18.					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTGGGGCGGCAGCAGGTGGG	0.468													T	39280073	C	T	39280073	3	4	80	1	0	0	0	0	1	0	0	0	8550	710	25	2	307	2	KRTAP4-12	17	39280073	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	157043	39280073	41915137	928	54870											
KRT33A	3883	broad.mit.edu	37	chr17	39505608	39505608	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccactcacttggtcctgaAgtcatctgaggccagcttgg	11	13	3	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:39505608A>G	uc002hwk.1	-	2	458	c.421T>C	c.(421-423)TTC>CTC	p.F141L		NM_004138	NP_004129	O76009	KT33A_HUMAN	keratin 33A	141	Rod.|Coil 1B.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)				TTGGTCCTGAAGTCATCTGAG	0.488													G	39505608	A	G	39505608	3	3	80	1	0	0	0	0	1	0	0	0	8469	72	3	3	817	3	KRT33A	17	39505608	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	225535	39505608	41689602	929	54871											
ATP6V0A1	535	broad.mit.edu	37	chr17	40666353	40666353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatccacatcggcctgagCgtgaagagcttggcgggagg	17	9	0	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:40666353C>T	uc002hzr.2	+	21	2462	c.2295C>T	c.(2293-2295)AGC>AGT	p.S765S	ATP6V0A1_uc002hzq.2_Silent_p.S759S|ATP6V0A1_uc002hzs.2_Silent_p.S766S|ATP6V0A1_uc010wgj.1_Silent_p.S722S|ATP6V0A1_uc010wgk.1_Silent_p.S716S|ATP6V0A1_uc010cyg.2_Silent_p.S411S|ATP6V0A1_uc010wgl.1_Silent_p.S624S|ATP6V0A1_uc002hzt.2_Silent_p.S49S	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	765	Helical; (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TCGGCCTGAGCGTGAAGAGCT	0.572													T	40666353	C	T	40666353	2	4	80	1	0	0	0	0	0	0	0	1	1168	767	27	1		1	ATP6V0A1	17	40666353	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1160745	40666353	40528857	930	54872											
CCR10	2826	broad.mit.edu	37	chr17	40832215	40832215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagtggagggccgcggccCggctgggagcgctcgcgcga	22	12	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:40832215C>T	uc002iax.3	-	2	449	c.445G>A	c.(445-447)GGG>AGG	p.G149R	CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	CC chemokine receptor 10	149	Cytoplasmic (Potential).					integral to plasma membrane					0		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GGCCGCGGCCCGGCTGGGAGC	0.692													T	40832215	C	T	40832215	3	4	80	1	0	0	0	0	1	0	0	0	2940	652	23	1	647	1	CCR10	17	40832215	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	165862	40832215	40362995	931	54873											
AOC3	8639	broad.mit.edu	37	chr17	41003597	41003598	+	Frame_Shift_Ins	INS	-	-	G													gctttctgacccagcggctgINSgggccagggctggtggatgc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	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													G	41003598	-	G	41003597	7	5	80	1	0	1	1	0	0	0	0	0	728	1335	47	0	239	0	AOC3	17	41003597	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	171382	41003597	40191613	932	54874											
MPP3	4356	broad.mit.edu	37	chr17	41891388	41891388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctcttacgtggaacagCgacgccaaagtgctgtgggt	14	11	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:41891388C>T	uc002iei.3	-	16	1412	c.1246G>A	c.(1246-1248)GCT>ACT	p.A416T	MPP3_uc002ieh.2_Missense_Mutation_p.A441T|MPP3_uc002iej.2_RNA	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	416	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CGTGGAACAGCGACGCCAAAG	0.537													T	41891388	C	T	41891388	3	4	80	1	0	0	0	0	1	0	0	0	9735	768	27	1	531	1	MPP3	17	41891388	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	887791	41891388	39303822	933	54875											
SLC4A1	6521	broad.mit.edu	37	chr17	42335473	42335473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtaataggggtagcggCgccggatatcacgcaccagg	15	10	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:42335473C>T	uc002igf.3	-	11	1312	c.1163G>A	c.(1162-1164)CGC>CAC	p.R388H	SLC4A1_uc002igg.3_Missense_Mutation_p.R388H	NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	388	Cytoplasmic.				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGGTAGCGGCGCCGGATATC	0.582													T	42335473	C	T	42335473	3	4	80	1	0	0	0	0	1	0	0	0	14650	768	27	1	1612	1	SLC4A1	17	42335473	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	444085	42335473	38859737	934	54876											
GPATCH8	23131	broad.mit.edu	37	chr17	42478368	42478368	+	Frame_Shift_Del	DEL	T	T	-													tcctgagggtcttcatcctcTtttttaccatcaagattact							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:42478367_42478367CT>C	uc002igw.2	-	7	1297	c.1078_1078AG>G	c.(1078-1080)gagfs	p.E360fs	GPATCH8_uc002igv.2_Frame_Shift_Del_p.E282fs|GPATCH8_uc010wiz.2_Frame_Shift_Del_p.E282fs	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	360						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TCTTCATCCTCTTTTTTACCA	0.468											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	42478368	T	-	42478368	7	5	80	1	0	1	0	1	0	0	0	0	6594	1606	56	0	3435	0	GPATCH8	17	42478368	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	142895	42478368	38716842	935	54877											
GFAP	2670	broad.mit.edu	37	chr17	42992767	42992767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggtgccaggacccagacGgcggccaggagccaggcccc	17	16	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:42992767G>A	uc002ihq.2	-	1	148	c.88C>T	c.(88-90)CGT>TGT	p.R30C	GFAP_uc002ihr.2_Missense_Mutation_p.R30C|GFAP_uc010wjg.1_RNA	NM_002055	NP_002046	P14136	GFAP_HUMAN	glial fibrillary acidic protein isoform 1	30	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			ovary(1)|pancreas(1)	2		Prostate(33;0.0959)				GGACCCAGACGGCGGCCAGGA	0.672													A	42992767	G	A	42992767	3	1	80	1	0	0	0	0	1	0	0	0	6337	1116	39	1	1375	1	GFAP	17	42992767	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	514399	42992767	38202443	936	54878											
PLCD3	113026	broad.mit.edu	37	chr17	43196237	43196237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcgcgggccagtgtggcGccctcctcgccctggtcctc	15	17	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:43196237G>A	uc002iib.2	-	5	972	c.858C>T	c.(856-858)GGC>GGT	p.G286G		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	286					intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	CCAGTGTGGCGCCCTCCTCGC	0.483													A	43196237	G	A	43196237	2	1	80	1	0	0	0	0	0	0	0	1	12032	1074	38	1		1	PLCD3	17	43196237	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	203470	43196237	37998973	937	54879											
MAP3K14	9020	broad.mit.edu	37	chr17	43362236	43362236	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccatcctgtgcacctctccGaaggagcctctgcccaggcg	10	17	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:43362236G>A	uc002iiw.1	-	7	1342	c.1233C>T	c.(1231-1233)TTC>TTT	p.F411F	MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_5'UTR	NM_003954	NP_003945	Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase	411	Interaction with ZFP91.|ATP (By similarity).|Protein kinase.				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						GCACCTCTCCGAAGGAGCCTC	0.592													A	43362236	G	A	43362236	2	1	80	1	0	0	0	0	0	0	0	1	9248	1049	37	1		1	MAP3K14	17	43362236	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	165999	43362236	37832974	938	54880											
SP6	80320	broad.mit.edu	37	chr17	45925675	45925675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcggggaggggtagtcccCggcctcagggctcgtgtggc	19	12	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:45925675C>T	uc002img.1	-	2	453	c.121G>A	c.(121-123)GGG>AGG	p.G41R	SP6_uc002imh.1_Missense_Mutation_p.G41R	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Sp6 transcription factor	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						GGGTAGTCCCCGGCCTCAGGG	0.711													T	45925675	C	T	45925675	3	4	80	1	0	0	0	0	1	0	0	0	14968	652	23	1	1013	1	SP6	17	45925675	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2563439	45925675	35269535	939	54881											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433968	+	Frame_Shift_Ins	INS	-	-	C													tccacctgtatggcagctacINSccccccggcacgccagccct							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:48433966_48433967A>AC	uc002iqo.3	+	7	1686_1687	c.1577_1578A>AC	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGCA	0.604													C	48433968	-	C	48433967	7	5	80	1	0	1	1	0	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	2508292	48433967	32761243	940	54882											
CHAD	1101	broad.mit.edu	37	chr17	48546095	48546095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtcgctgtggcagtggCagttctgggggcaggcggcc	20	10	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:48546095C>T	uc010dbr.2	-	1	133	c.80G>A	c.(79-81)TGC>TAC	p.C27Y	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Missense_Mutation_p.C27Y|ACSF2_uc010dbt.1_Intron	NM_001267	NP_001258	O15335	CHAD_HUMAN	chondroadherin precursor	27	LRRNT.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(2)|central_nervous_system(1)	3	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GTGGCAGTGGCAGTTCTGGGG	0.667													T	48546095	C	T	48546095	3	4	80	1	0	0	0	0	1	0	0	0	3310	710	25	2	1011	2	CHAD	17	48546095	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	112128	48546095	32649115	941	54883											
ABCC3	8714	broad.mit.edu	37	chr17	48757227	48757227	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctaacatcgtggctgtggaGagggtcaaggagtactccaa	13	8	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:48757227G>A	uc002isl.2	+	26	3854	c.3774G>A	c.(3772-3774)GAG>GAA	p.E1258E	ABCC3_uc002isn.2_Silent_p.E12E	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	1258	Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TGGCTGTGGAGAGGGTCAAGG	0.522													A	48757227	G	A	48757227	2	1	80	1	0	0	0	0	0	0	0	1	54	933	33	4		4	ABCC3	17	48757227	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	211132	48757227	32437983	942	54884											
BZRAP1	9256	broad.mit.edu	37	chr17	56400095	56400095	+	Frame_Shift_Del	DEL	C	C	-													tgagtccctctcctgtgtcaCccccaggagctggcccctca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:56400095delC	uc002ivx.3	-	9	2108	c.1237delG	c.(1237-1239)GTGfs	p.V413fs	BZRAP1_uc010dcs.2_Frame_Shift_Del_p.V353fs|BZRAP1_uc010wnt.1_Frame_Shift_Del_p.V413fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	413						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCTGTGTCACCCCCAGGAGC	0.647													-	56400095	C	-	56400095	7	5	80	1	0	1	0	1	0	0	0	0	1577	507	18	0	4428	0	BZRAP1	17	56400095	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	7642868	56400095	24795115	943	54885											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	80	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	35066	56435161	24760049	944	54886											
RNF43	54894	broad.mit.edu	37	chr17	56437531	56437531	+	Frame_Shift_Del	DEL	G	G	-													tgtgatgttgaacatgcagaGggggcaagtccgatgctgat							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:56437530_56437530AG>A	uc002iwf.3	-	6	2888	c.932_932CT>T	c.(931-933)ctcfs	p.L311fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.L270fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.L311fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.L311fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.L184fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	311						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAACATGCAGAGGGGGCAAGT	0.552													-	56437531	G	-	56437531	7	5	80	1	0	1	0	1	0	0	0	0	13495	1000	35	0	1432	0	RNF43	17	56437531	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	2370	56437531	24757679	945	54887											
PRR11	55771	broad.mit.edu	37	chr17	57271002	57271003	+	In_Frame_Ins	INS	-	-	TCC													cacagccagccagccattttINScctcctcctcctccacctcc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:57271001_57271002T>TTCC	uc002ixf.2	+	4	863_864	c.551_552T>TTCC	c.(550-552)ttt>tTTCC	p.F184F	PRR11_uc021uar.1_Non-coding_Transcript	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	Homo sapiens proline rich 11 (PRR11), mRNA.	184	Pro-rich.									breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GCCAGCCATTTtcctcctcctc	0.55													TCC	57271003	-	TCC	57271002	7	5	80	1	0	1	1	0	0	0	0	0	12583	1780	62	0	566	0	PRR11	17	57271002	In_Frame_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	833471	57271002	23924208	946	54888											
CYB561	1534	broad.mit.edu	37	chr17	61514812	61514812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggtacagcccgagccacgCgccggtcatggccaccaagg	13	16	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:61514812C>T	uc002jap.2	-	1	499	c.97G>A	c.(97-99)GCG>ACG	p.A33T	CYB561_uc002jaq.2_Missense_Mutation_p.A79T|CYB561_uc002jar.2_Missense_Mutation_p.A33T|CYB561_uc002jas.2_Missense_Mutation_p.A33T|CYB561_uc010ddt.2_Missense_Mutation_p.A33T|CYB561_uc002jat.2_Missense_Mutation_p.A33T|CYB561_uc010wpf.1_Missense_Mutation_p.A33T|CYB561_uc010wpg.1_Missense_Mutation_p.A4T	NM_001915	NP_001906	P49447	CY561_HUMAN	cytochrome b-561	33	Helical; (Potential).|Cytochrome b561.				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(1115;0.0689)		CCGAGCCACGCGCCGGTCATG	0.677													T	61514812	C	T	61514812	3	4	80	1	0	0	0	0	1	0	0	0	4119	768	27	1	678	1	CYB561	17	61514812	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	4243810	61514812	19680398	947	54889											
KCNH6	81033	broad.mit.edu	37	chr17	61615881	61615881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggcaagggctgcctgcgCgcgctagccgtcaagttcaa	14	14	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:61615881C>T	uc002jay.2	+	8	1892	c.1812C>T	c.(1810-1812)CGC>CGT	p.R604R	KCNH6_uc010wpl.1_Silent_p.R481R|KCNH6_uc010wpm.1_Silent_p.R604R|KCNH6_uc002jaz.1_Silent_p.R551R	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	604	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	GCTGCCTGCGCGCGCTAGCCG	0.682													T	61615881	C	T	61615881	2	4	80	1	0	0	0	0	0	0	0	1	8036	755	27	1		1	KCNH6	17	61615881	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	101069	61615881	19579329	948	54890											
SCN4A	6329	broad.mit.edu	37	chr17	62018409	62018409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgcctgcttcatggagcGctgtagcaggtgccggcggt	17	10	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:62018409G>A	uc002jds.1	-	24	5310	c.5233C>T	c.(5233-5235)CGC>TGC	p.R1745C		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1745	IQ.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	TTCATGGAGCGCTGTAGCAGG	0.622													A	62018409	G	A	62018409	3	1	80	1	0	0	0	0	1	0	0	0	13920	1087	38	1	281	1	SCN4A	17	62018409	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	402528	62018409	19176801	949	54891											
SCN4A	6329	broad.mit.edu	37	chr17	62019281	62019281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcaggacacgcccaatcCgcgccaggcggatcacacgg	13	17	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:62019281C>T	uc002jds.1	-	24	4438	c.4361G>A	c.(4360-4362)CGG>CAG	p.R1454Q		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1454	Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).|IV.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	ACGCCCAATCCGCGCCAGGCG	0.642													T	62019281	C	T	62019281	3	4	80	1	0	0	0	0	1	0	0	0	13920	652	23	1	1153	1	SCN4A	17	62019281	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	872	62019281	19175929	950	54892											
SLC16A6	9120	broad.mit.edu	37	chr17	66270150	66270150	+	Frame_Shift_Del	DEL	C	C	-													atcccggtgctgacaagtagCccccccaacatcactaccag							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:66270149_66270149GC>G	uc002jha.2	-	3	608	c.295_295GC>C	c.(295-297)ctafs	p.L99fs	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Frame_Shift_Del_p.L99fs	NM_001174166	NP_004685	O15403	MOT7_HUMAN	Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA.	99						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTGACAAGTAGCCCCCCCAAC	0.532													-	66270150	C	-	66270150	7	5	80	1	0	1	0	1	0	0	0	0	14412	726	26	0	1293	0	SLC16A6	17	66270150	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	4250869	66270150	14925060	951	54893											
ABCA5	23461	broad.mit.edu	37	chr17	67303002	67303002	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatattaaaattactcctcGgggaaaggtatctatttcta	7	6	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:67303002G>A	uc002jif.2	-	5	1870	c.652C>T	c.(652-654)CGA>TGA	p.R218*	ABCA5_uc002jig.2_Nonsense_Mutation_p.R218*|ABCA5_uc002jih.2_Nonsense_Mutation_p.R218*|ABCA5_uc010dfe.2_Nonsense_Mutation_p.R218*	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	218					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					ATTACTCCTCGGGGAAAGGTA	0.323													A	67303002	G	A	67303002	4	1	80	1	0	0	0	0	0	1	0	0	35	1124	39	1	4412	1	ABCA5	17	67303002	Nonsense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1032852	67303002	13892208	952	54894											
SSTR2	6752	broad.mit.edu	37	chr17	71166221	71166221	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagtctgagaagaaggtcAcccgaatggtgtccatcgtg	13	8	2	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:71166221A>G	uc002jje.2	+	2	1123	c.763A>G	c.(763-765)ACC>GCC	p.T255A		NM_001050	NP_001041	P30874	SSR2_HUMAN	somatostatin receptor 2	255	Helical; Name=6; (Potential).				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity				0			LUSC - Lung squamous cell carcinoma(166;0.197)			GAAGAAGGTCACCCGAATGGT	0.507													G	71166221	A	G	71166221	3	3	80	1	0	0	0	0	1	0	0	0	15197	159	6	3	765	3	SSTR2	17	71166221	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	3863219	71166221	10028989	953	54895											
ICT1	3396	broad.mit.edu	37	chr17	73008887	73008887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcacaagcagaaagacGgcactgagttcaagagcatc	11	11	1	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:73008887G>A	uc002jmm.2	+	1	108	c.106G>A	c.(106-108)GGC>AGC	p.G36S		NM_001545	NP_001536	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1 precursor	36					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			ovary(1)|central_nervous_system(1)	2	all_lung(278;0.226)					GCAGAAAGACGGCACTGAGTT	0.682											OREG0024724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	73008887	G	A	73008887	3	1	80	1	0	0	0	0	1	0	0	0	7488	1116	39	1	108	1	ICT1	17	73008887	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1842666	73008887	8186323	954	54896											
KIAA0195	9772	broad.mit.edu	37	chr17	73491063	73491063	+	Frame_Shift_Del	DEL	C	C	-													gacatgcctggctccgagatCcccccctccagccccagcca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:73491062_73491062TC>T	uc010wsa.2	+	18	2897	c.2705_2705TC>T	c.(2704-2706)atcfs	p.I902fs	KIAA0195_uc002jnz.4_Frame_Shift_Del_p.I892fs|KIAA0195_uc010wsb.2_Frame_Shift_Del_p.I532fs|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	892					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCTCCGAGATCCCCCCCTCC	0.612													-	73491063	C	-	73491063	7	5	80	1	0	1	0	1	0	0	0	0	8160	845	30	0	2750	0	KIAA0195	17	73491063	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	482176	73491063	7704147	955	54897											
ZACN	353174	broad.mit.edu	37	chr17	74077483	74077483	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccctgcttccaggtgacGgtgagtcaagtcgggaggag	17	9	1	2	rs145200784	by1000genomes	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:74077483G>A	uc002jqn.2	+	6	752	c.669G>A	c.(667-669)ACG>ACA	p.T223T	ZACN_uc002jqo.2_RNA|ZACN_uc010dgu.2_RNA|EXOC7_uc002jqp.1_3'UTR|EXOC7_uc010dgv.1_3'UTR|EXOC7_uc002jqs.2_3'UTR|EXOC7_uc002jqq.2_3'UTR|EXOC7_uc010wsw.1_3'UTR|EXOC7_uc010wsx.1_3'UTR|EXOC7_uc002jqr.2_3'UTR|EXOC7_uc010wsv.1_3'UTR	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	223	Extracellular (Potential).				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity				0						TCCAGGTGACGGTGAGTCAAG	0.617													A	74077483	G	A	74077483	2	1	80	1	0	0	0	0	0	0	0	1	17507	1130	39	1		1	ZACN	17	74077483	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	586420	74077483	7117727	956	54898											
PRPSAP1	5635	broad.mit.edu	37	chr17	74324855	74324855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaccataggcggggagtgacGaccatcgtccatgtccagtt	13	11	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:74324855G>A	uc010wta.1	-	7	1170	c.724C>T	c.(724-726)CGT>TGT	p.R242C	PRPSAP1_uc010wtb.1_Missense_Mutation_p.R139C	NM_002766	NP_002757	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate	213					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			ovary(1)	1						GGGGAGTGACGACCATCGTCC	0.507													A	74324855	G	A	74324855	3	1	80	1	0	0	0	0	1	0	0	0	12581	1058	37	1	449	1	PRPSAP1	17	74324855	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	247372	74324855	6870355	957	54899											
DNAH17	8632	broad.mit.edu	37	chr17	76421587	76421587	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtgaggaacgactggggGttgaagaagccggccagcca	17	10	0	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:76421587G>A	uc010dhp.1	-	25	4203	c.3981C>T	c.(3979-3981)AAC>AAT	p.N1327N	DNAH17_uc002jvq.2_Silent_p.N612N|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)			ACGACTGGGGGTTGAAGAAGC	0.602													A	76421587	G	A	76421587	2	1	80	1	0	0	0	0	0	0	0	1	4601	1252	44	4		4	DNAH17	17	76421587	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2096732	76421587	4773623	958	54900											
USP36	57602	broad.mit.edu	37	chr17	76800028	76800028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgaaggggggttgcaggCggctggatgattggggagca	22	5	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:76800028C>T	uc002jvz.1	-	16	2574	c.2249G>A	c.(2248-2250)CGC>CAC	p.R750H	USP36_uc002jwa.1_Missense_Mutation_p.R750H|USP36_uc002jwb.1_Intron|USP36_uc002jwc.1_Missense_Mutation_p.R450H|USP36_uc002jvy.1_5'Flank	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	750					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GGGTTGCAGGCGGCTGGATGA	0.622													T	76800028	C	T	76800028	3	4	80	1	0	0	0	0	1	0	0	0	17064	768	27	1	1142	1	USP36	17	76800028	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	378441	76800028	4395182	959	54901											
CARD14	79092	broad.mit.edu	37	chr17	78176025	78176025	+	Frame_Shift_Del	DEL	G	G	-													gaggccaaagtggcgacctcGggggactcattctacatccg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:78176025delG	uc002jxw.1	+	15	2220	c.2025delG	c.(2023-2025)TCGfs	p.S675fs	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Frame_Shift_Del_p.S675fs|CARD14_uc010wud.1_RNA	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	675					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGCGACCTCGGGGGACTCAT	0.587													-	78176025	G	-	78176025	7	5	80	1	0	1	0	1	0	0	0	0	2646	1103	39	0	2244	0	CARD14	17	78176025	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	1375997	78176025	3019185	960	54902											
RPTOR	57521	broad.mit.edu	37	chr17	78704481	78704481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtccttcaagcagttcgCactacagcgggagcaggagc	12	12	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:78704481C>T	uc002jyt.1	+	5	1434	c.629C>T	c.(628-630)GCA>GTA	p.A210V	RPTOR_uc002jys.2_Missense_Mutation_p.A210V|RPTOR_uc010wuf.1_Missense_Mutation_p.A25V|RPTOR_uc010wug.1_Missense_Mutation_p.A210V	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	210					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						AAGCAGTTCGCACTACAGCGG	0.582													T	78704481	C	T	78704481	3	4	80	1	0	0	0	0	1	0	0	0	13665	710	25	2	647	2	RPTOR	17	78704481	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	528456	78704481	2490729	961	54903											
RAC3	5881	broad.mit.edu	37	chr17	79991680	79991680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcccccagtgaagaagcCggggaagaagtgcaccgtct	13	14	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:79991680C>T	uc002kdf.2	+	6	660	c.554C>T	c.(553-555)CCG>CTG	p.P185L		NM_005052	NP_005043	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho	185					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GTGAAGAAGCCGGGGAAGAAG	0.652													T	79991680	C	T	79991680	3	4	80	1	0	0	0	0	1	0	0	0	12976	652	23	1	576	1	RAC3	17	79991680	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1287199	79991680	1203530	962	54904											
GPS1	2873	broad.mit.edu	37	chr17	80012606	80012606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtggggacctcagcaacGccctcaagtgctattcccgg	11	14	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:80012606G>A	uc002kdl.1	+	4	586	c.541G>A	c.(541-543)GCC>ACC	p.A181T	RFNG_uc002kdj.2_5'Flank|GPS1_uc002kdk.1_Missense_Mutation_p.A217T|GPS1_uc010dij.1_Missense_Mutation_p.A217T|GPS1_uc002kdm.1_Missense_Mutation_p.A161T|GPS1_uc002kdn.1_Missense_Mutation_p.A177T|GPS1_uc002kdo.1_Missense_Mutation_p.A181T|GPS1_uc010wvh.1_Missense_Mutation_p.A173T	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	181					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CCTCAGCAACGCCCTCAAGTG	0.612													A	80012606	G	A	80012606	3	1	80	1	0	0	0	0	1	0	0	0	6732	1087	38	1	712	1	GPS1	17	80012606	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	20926	80012606	1182604	963	54905											
GPS1	2873	broad.mit.edu	37	chr17	80014794	80014794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcaaggagttccagcgcCgcgccaaggccatgatgctg	15	12	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:80014794C>T	uc002kdl.1	+	12	1390	c.1345C>T	c.(1345-1347)CGC>TGC	p.R449C	GPS1_uc002kdk.1_Missense_Mutation_p.R485C|GPS1_uc010dij.1_Missense_Mutation_p.R484C|GPS1_uc002kdm.1_Missense_Mutation_p.R429C|GPS1_uc002kdn.1_Missense_Mutation_p.R445C|GPS1_uc002kdo.1_Missense_Mutation_p.R448C|GPS1_uc010wvh.1_Missense_Mutation_p.R441C	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	449					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GTTCCAGCGCCGCGCCAAGGC	0.642													T	80014794	C	T	80014794	3	4	80	1	0	0	0	0	1	0	0	0	6732	652	23	1	1548	1	GPS1	17	80014794	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2188	80014794	1180416	964	54906											
UTS2R	2837	broad.mit.edu	37	chr17	80332696	80332696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcgccccaagggctacCgcaagctgctggcgctgggc	15	15	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:80332696C>T	uc010wvl.1	+	1	496	c.496C>T	c.(496-498)CGC>TGC	p.R166C		NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	166	Cytoplasmic (Potential).					integral to membrane|plasma membrane				breast(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CAAGGGCTACCGCAAGCTGCT	0.701													T	80332696	C	T	80332696	3	4	80	1	0	0	0	0	1	0	0	0	17103	652	23	1	498	1	UTS2R	17	80332696	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	317902	80332696	862514	965	54907											
ZNF750	79755	broad.mit.edu	37	chr17	80789902	80789902	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcaccgagggcggcttcCggagctgggctcttgcaggg	19	11	1	0	rs142460137		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:80789902C>T	uc002kga.2	-	2	740	c.429G>A	c.(427-429)CCG>CCA	p.P143P	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	143						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGGCGGCTTCCGGAGCTGGGC	0.647													T	80789902	C	T	80789902	2	4	80	1	0	0	0	0	0	0	0	1	18129	639	23	1		1	ZNF750	17	80789902	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	457206	80789902	405308	966	54908											
EPB41L3	23136	broad.mit.edu	37	chr18	5394709	5394709	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctccatcttctggtgtgatCtctgtctctttatggaccac	7	12	5	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:5394709C>A	uc002kmt.1	-	22	3323	c.3237G>T	c.(3235-3237)GAG>GAT	p.E1079D	EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Missense_Mutation_p.E857D|EPB41L3_uc010dkq.1_Missense_Mutation_p.E748D|EPB41L3_uc002kms.1_Missense_Mutation_p.E314D|EPB41L3_uc010wze.1_Missense_Mutation_p.E384D|EPB41L3_uc010wzf.1_Missense_Mutation_p.E376D|EPB41L3_uc010wzg.1_Missense_Mutation_p.E351D|EPB41L3_uc010dkr.2_Missense_Mutation_p.E471D	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1079	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						CTGGTGTGATCTCTGTCTCTT	0.527													A	5394709	C	A	5394709	3	1	80	1	0	0	0	0	1	0	0	0	5154	912	32	5	30	5	EPB41L3	18	5394709	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08		5394709	72682539	967	54909											
EPB41L3	23136	broad.mit.edu	37	chr18	5428401	5428401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatctgtttattcgcagccGgtcgcgatatatcaacagac	8	10	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:5428401G>A	uc002kmt.1	-	9	1062	c.976C>T	c.(976-978)CGG>TGG	p.R326W	EPB41L3_uc010wzh.1_Missense_Mutation_p.R326W|EPB41L3_uc002kmu.1_Missense_Mutation_p.R326W|EPB41L3_uc010dkq.1_Missense_Mutation_p.R217W|EPB41L3_uc010dks.1_Missense_Mutation_p.R348W	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	326	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						ATTCGCAGCCGGTCGCGATAT	0.418													A	5428401	G	A	5428401	3	1	80	1	0	0	0	0	1	0	0	0	5154	1115	39	1	2343	1	EPB41L3	18	5428401	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	33692	5428401	72648847	968	54910											
LAMA1	284217	broad.mit.edu	37	chr18	6958568	6958568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctctggaattcccccgacGtacagattggacacatttat	7	13	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:6958568G>A	uc002knm.2	-	55	7966	c.7872C>T	c.(7870-7872)TAC>TAT	p.Y2624Y	LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Silent_p.Y77Y|LAMA1_uc010wzj.1_Silent_p.Y2100Y	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2624	Laminin G-like 3.				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)	TTCCCCCGACGTACAGATTGG	0.433													A	6958568	G	A	6958568	2	1	80	1	0	0	0	0	0	0	0	1	8605	1140	40	1		1	LAMA1	18	6958568	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1530167	6958568	71118680	969	54911											
PTPRM	5797	broad.mit.edu	37	chr18	8085713	8085713	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgacccagaaatagatttAtccaatcagagtggaagagt	9	6	1	5			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:8085713A>G	uc002knn.3	+	10	2099	c.1596A>G	c.(1594-1596)TTA>TTG	p.L532L	PTPRM_uc010dkv.2_Silent_p.L532L|PTPRM_uc010wzl.1_Silent_p.L319L	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	532	Fibronectin type-III 3.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				AAATAGATTTATCCAATCAGA	0.408													G	8085713	A	G	8085713	2	3	80	1	0	0	0	0	0	0	0	1	12806	446	16	3		3	PTPRM	18	8085713	Silent	SNP	A	TCGA-BR-8368-01A-11D-2340-08	1127145	8085713	69991535	970	54912											
RAB31	11031	broad.mit.edu	37	chr18	9845647	9845648	+	Frame_Shift_Ins	INS	-	-	A													atcgtggttgagacaagtgcINSaaaaaatgctattaatatcg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:9845647_9845648insA	uc002kog.2	+	6	624_625	c.449_450insA	c.(448-450)GCAfs	p.A150fs		NM_006868	NP_006859	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	149					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			skin(1)	1						GAGACAAGTGCAAAAAATGCTA	0.421													A	9845648	-	A	9845647	7	5	80	1	0	1	1	0	0	0	0	0	12920	710	25	0	471	0	RAB31	18	9845647	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	1759934	9845647	68231601	971	54913											
C18orf1	753	broad.mit.edu	37	chr18	13438332	13438332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgtggggacaacagtgacGaagagaactgtctcctggtg	14	8	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:13438332G>A	uc002ksa.2	+	4	798	c.130G>A	c.(130-132)GAA>AAA	p.E44K	C18orf1_uc002ksb.2_Missense_Mutation_p.E44K	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	44	Extracellular (Potential).|LDL-receptor class A.					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)		CAACAGTGACGAAGAGAACTG	0.512													A	13438332	G	A	13438332	3	1	80	1	0	0	0	0	1	0	0	0	1894	1059	37	1	136	1	C18orf1	18	13438332	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	3592685	13438332	64638916	972	54914											
KCTD1	284252	broad.mit.edu	37	chr18	24056602	24056602	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaacaatgggctctgtAccatcaaaaagtcttccgat	6	11	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:24056602A>G	uc002kvw.2	-	3	746	c.186T>C	c.(184-186)GGT>GGC	p.G62G	KCTD1_uc010xbj.1_Silent_p.G670G|KCTD1_uc010xbk.1_Silent_p.G62G|KCTD1_uc002kvy.2_5'UTR	NM_001136205	NP_001129677	Q719H9	KCTD1_HUMAN	potassium channel tetramerisation domain	62	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			ovary(1)	1	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			TGGGCTCTGTACCATCAAAAA	0.388													G	24056602	A	G	24056602	2	3	80	1	0	0	0	0	0	0	0	1	8096	378	14	3		3	KCTD1	18	24056602	Silent	SNP	A	TCGA-BR-8368-01A-11D-2340-08	10618270	24056602	54020646	973	54915											
KLHL14	57565	broad.mit.edu	37	chr18	30349862	30349862	+	Frame_Shift_Del	DEL	G	G	-													agcgccagctccgactccacGgggggcggcagcgagtccag					rs147661052		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:30349862delG	uc002kxm.1	-	2	1081	c.693delC	c.(691-693)CCCfs	p.P231fs		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	231	BACK.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						CCGACTCCACGGGGGGCGGCA	0.642													-	30349862	G	-	30349862	7	5	80	1	0	1	0	1	0	0	0	0	8370	1103	39	0	1225	0	KLHL14	18	30349862	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	6293260	30349862	47727386	974	54916											
GALNT1	2589	broad.mit.edu	37	chr18	33263466	33263466	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctagattaaaaggagctgCtgtgtctaaaggccaagtga	12	6	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:33263466C>A	uc010dmu.2	+	5	646	c.593C>A	c.(592-594)GCT>GAT	p.A198D	GALNT1_uc002kyz.3_Missense_Mutation_p.A138D|GALNT1_uc002kzb.2_Missense_Mutation_p.A198D	NM_020474	NP_065207	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	198	Lumenal (Potential).|Catalytic subdomain A.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						AAAGGAGCTGCTGTGTCTAAA	0.443													A	33263466	C	A	33263466	3	1	80	1	0	0	0	0	1	0	0	0	6207	797	28	5	607	5	GALNT1	18	33263466	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2913604	33263466	44813782	975	54917											
RPRD1A	55197	broad.mit.edu	37	chr18	33606891	33606891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgctctttctctgcaaggGcttccttttgacaacgaaga	8	10	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:33606891G>A	uc002kzf.1	-	6	767	c.761C>T	c.(760-762)GCC>GTC	p.A254V	RPRD1A_uc002kze.1_Missense_Mutation_p.A218V|RPRD1A_uc002kzg.2_Missense_Mutation_p.A254V|RPRD1A_uc010dmw.2_Missense_Mutation_p.A218V|RPRD1A_uc010dmx.2_Missense_Mutation_p.A254V	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing	254	Potential.									ovary(1)|breast(1)	2						CTCTGCAAGGGCTTCCTTTTG	0.343													A	33606891	G	A	33606891	3	1	80	1	0	0	0	0	1	0	0	0	13615	1203	42	2	185	2	RPRD1A	18	33606891	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	343425	33606891	44470357	976	54918											
FHOD3	80206	broad.mit.edu	37	chr18	34174753	34174753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatctcttctgccagttcCgcctggtggtgaagacagcc	10	12	2	2	rs149572147		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:34174753C>T	uc002kzt.1	+	7	707	c.610C>T	c.(610-612)CGC>TGC	p.R204C	FHOD3_uc002kzr.1_Missense_Mutation_p.R204C|FHOD3_uc002kzs.1_Missense_Mutation_p.R204C|FHOD3_uc002kzu.1_Missense_Mutation_p.R29C|FHOD3_uc010dmz.1_5'UTR	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	204	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CTGCCAGTTCCGCCTGGTGGT	0.547													T	34174753	C	T	34174753	3	4	80	1	0	0	0	0	1	0	0	0	5883	652	23	1	636	1	FHOD3	18	34174753	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	567862	34174753	43902495	977	54919											
FHOD3	80206	broad.mit.edu	37	chr18	34340642	34340642	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagctatgcggaggacgcGgctgagcacgagaacatgaa	15	9	0	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:34340642G>A	uc002kzt.1	+	22	4018	c.3921G>A	c.(3919-3921)GCG>GCA	p.A1307A	FHOD3_uc002kzs.1_Silent_p.A1324A|FHOD3_uc010dmz.1_Silent_p.A1039A|FHOD3_uc010dnb.1_Intron	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1307					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CGGAGGACGCGGCTGAGCACG	0.657													A	34340642	G	A	34340642	2	1	80	1	0	0	0	0	0	0	0	1	5883	1103	39	1		1	FHOD3	18	34340642	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	165889	34340642	43736606	978	54920											
KIAA1328	57536	broad.mit.edu	37	chr18	34647292	34647292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatcatgcagttattgtcGgctttcttgggcatctctgg	11	8	3	1	rs151123484	by1000genomes	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:34647292G>A	uc002kzz.2	+	7	1038	c.1016G>A	c.(1015-1017)CGG>CAG	p.R339Q	KIAA1328_uc002lab.2_Missense_Mutation_p.R55Q|KIAA1328_uc002lac.1_Missense_Mutation_p.R162Q|KIAA1328_uc010dnc.1_RNA|KIAA1328_uc002lad.2_Missense_Mutation_p.R55Q	NM_020776	NP_065827	Q86T90	K1328_HUMAN	hypothetical protein LOC57536	339										central_nervous_system(1)	1				COAD - Colon adenocarcinoma(74;0.195)		AGTTATTGTCGGCTTTCTTGG	0.463													A	34647292	G	A	34647292	3	1	80	1	0	0	0	0	1	0	0	0	8225	1116	39	1	1042	1	KIAA1328	18	34647292	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	306650	34647292	43429956	979	54921											
ZBTB7C	201501	broad.mit.edu	37	chr18	45567085	45567085	+	Frame_Shift_Del	DEL	C	C	-													gtcatcctcctcccccccgtCccccccaggctccatgatct							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:45567084_45567084TC>T	uc010dnv.3	-	2	897	c.461_461GA>A	c.(460-462)gacfs	p.D154fs	ZBTB7C_uc002ldb.3_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dnu.3_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dnw.3_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dnx.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dny.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dnz.1_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010doi.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doj.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dok.1_Frame_Shift_Del_p.D181fs|ZBTB7C_uc010dol.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010doa.1_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010dob.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doc.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dod.1_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010doe.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dof.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dog.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doh.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dom.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010don.1_Frame_Shift_Del_p.D140fs|ZBTB7C_uc010dop.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doq.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dor.1_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010dos.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dot.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doo.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dou.1_Frame_Shift_Del_p.D141fs	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	132	Asp-rich.|Glu-rich.					intracellular	nucleic acid binding|zinc ion binding	p.E154K(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						ctcccccccgtcccccCCAGG	0.577													-	45567085	C	-	45567085	7	5	80	1	0	1	0	1	0	0	0	0	17552	855	30	0	1473	0	ZBTB7C	18	45567085	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	10919793	45567085	32510163	980	54922											
ME2	4200	broad.mit.edu	37	chr18	48442541	48442541	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttgttctgttgcaggggAttatttatttcgatctcaga	9	5	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:48442541A>G	uc002ley.2	+	5	652	c.396A>G	c.(394-396)GGA>GGG	p.G132G	ME2_uc010dpd.2_Silent_p.G132G	NM_002396	NP_002387	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	132					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding				0		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	GTTGCAGGGGATTATTTATTT	0.318													G	48442541	A	G	48442541	2	3	80	1	0	0	0	0	0	0	0	1	9418	320	12	3		3	ME2	18	48442541	Silent	SNP	A	TCGA-BR-8368-01A-11D-2340-08	2875456	48442541	29634707	981	54923											
LMAN1	3998	broad.mit.edu	37	chr18	57013285	57013285	+	Splice_Site	DEL	T	T	-													tttctttatctggtgtgggcTtttttttggagttttggaat							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:57013284_57013284CT>C	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CTGGTGTGGGCTTTTTTTTGG	0.294													-	57013285	T	-	57013285	8	5	80	1	0	1	0	1	0	0	1	0	8836	1623	56	0	735	0	LMAN1	18	57013285	Splice_Site	DEL	T	TCGA-BR-8368-01A-11D-2340-08	8570744	57013285	21063963	982	54924											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60021739	60021739	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgccgcaacaccgagtgCgcgccgggcctgggcgccca	15	18	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:60021739C>T	uc002lin.2	+	4	437	c.399C>T	c.(397-399)TGC>TGT	p.C133C	TNFRSF11A_uc010dpv.2_Silent_p.C133C	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily,	133	Extracellular (Potential).|TNFR-Cys 3.	Sodium; via carbonyl oxygen (By similarity).			adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(2)|lung(1)	3		Colorectal(73;0.188)				ACACCGAGTGCGCGCCGGGCC	0.677									Paget_Disease_of_Bone				T	60021739	C	T	60021739	2	4	80	1	0	0	0	0	0	0	0	1	16281	776	27	1		1	TNFRSF11A	18	60021739	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3008454	60021739	18055509	983	54925											
NETO1	81832	broad.mit.edu	37	chr18	70526122	70526122	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agctctccatcagcaaaaaaTttaatccatagaaatcttcc	3	11	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:70526122T>A	uc002lkw.2	-	4	692	c.408A>T	c.(406-408)AAA>AAT	p.K136N	NETO1_uc002lkx.1_Missense_Mutation_p.K135N|NETO1_uc002lky.1_Missense_Mutation_p.K136N|NETO1_uc002lkz.2_Missense_Mutation_p.K135N	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	136	CUB 1.|Extracellular (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CAGCAAAAAATTTAATCCATA	0.353													A	70526122	T	A	70526122	3	1	80	1	0	0	0	0	1	0	0	0	10339	1490	52	5	1230	5	NETO1	18	70526122	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	10504383	70526122	7551126	984	54926											
ZADH2	284273	broad.mit.edu	37	chr18	72913820	72913820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttaaggacggtacctaCgggttcagttttatagttga	11	7	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:72913820C>T	uc002llx.2	-	2	953	c.685G>A	c.(685-687)GTA>ATA	p.V229I	ZADH2_uc010dqv.2_Missense_Mutation_p.V106I	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain	229						peroxisome	oxidoreductase activity|zinc ion binding				0		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		ACGGTACCTACGGGTTCAGTT	0.478													T	72913820	C	T	72913820	3	4	80	1	0	0	0	0	1	0	0	0	17508	536	19	1	452	1	ZADH2	18	72913820	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2387698	72913820	5163428	985	54927											
ZNF236	7776	broad.mit.edu	37	chr18	74639294	74639294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctattggctcagcagctcaCgggggagcctggcctggccc	14	15	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:74639294C>T	uc002lmi.2	+	24	4427	c.4229C>T	c.(4228-4230)ACG>ATG	p.T1410M	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1410					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAGCAGCTCACGGGGGAGCCT	0.552													T	74639294	C	T	74639294	3	4	80	1	0	0	0	0	1	0	0	0	17786	536	19	1	4323	1	ZNF236	18	74639294	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1725474	74639294	3437954	986	54928											
BSG	682	broad.mit.edu	37	chr19	577814	577814	+	Frame_Shift_Del	DEL	G	G	-													ctgtcccagcagaggtgggtGgggggcagtgtggagctgca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:577814delG	uc002loz.2	+	2	206	c.108delG	c.(106-108)GTGfs	p.V36fs	BSG_uc002loy.2_Intron|BSG_uc002lpa.2_Intron|BSG_uc002lpb.2_Intron|BSG_uc010drr.2_Intron|BSG_uc002lpc.2_5'Flank	NM_001728	NP_001719	P35613	BASI_HUMAN	basigin isoform 1 precursor	36					blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGGTGGGTGGGGGGCAGTG	0.692													-	577814	G	-	577814	7	5	80	1	0	1	0	1	0	0	0	0	1529	1335	47	0	150	0	BSG	19	577814	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08		577814	58551169	987	54929											
C19orf21	126353	broad.mit.edu	37	chr19	758107	758107	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcggagggtccccagccCggactccggagagccctcag	14	16	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:758107C>T	uc002lpo.2	+	2	1244	c.1161C>T	c.(1159-1161)CCC>CCT	p.P387P		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	hypothetical protein LOC126353	387										upper_aerodigestive_tract(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCCCAGCCCGGACTCCGGA	0.677													T	758107	C	T	758107	2	4	80	1	0	0	0	0	0	0	0	1	1913	639	23	1		1	C19orf21	19	758107	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	180293	758107	58370876	988	54930											
SBNO2	22904	broad.mit.edu	37	chr19	1119081	1119081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcgatgcggaaggtgaCgccggagaagctgagctggc	16	11	0	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:1119081C>T	uc002lrk.3	-	14	1694	c.1456G>A	c.(1456-1458)GTC>ATC	p.V486I	SBNO2_uc002lrj.3_Missense_Mutation_p.V429I|SBNO2_uc010dse.2_Missense_Mutation_p.V479I|SBNO2_uc010xgj.1_Intron|SBNO2_uc010dsf.2_Missense_Mutation_p.V429I	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 isoform 1	486					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent						0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGAAGGTGACGCCGGAGAAG	0.677													T	1119081	C	T	1119081	3	4	80	1	0	0	0	0	1	0	0	0	13863	536	19	1	2720	1	SBNO2	19	1119081	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	360974	1119081	58009902	989	54931											
DAZAP1	26528	broad.mit.edu	37	chr19	1432590	1432590	+	Frame_Shift_Del	DEL	G	G	-													ctcctccaccagccactcccGgggcagcacctctggctttc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:1432590delG	uc002lsn.2	+	11	1138	c.949delG	c.(949-951)GGGfs	p.G317fs	DAZAP1_uc002lsm.2_Frame_Shift_Del_p.G317fs|DAZAP1_uc002lso.2_Frame_Shift_Del_p.G316fs|DAZAP1_uc002lsl.1_Frame_Shift_Del_p.G317fs	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1 isoform b	317	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)	1		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCACTCCCGGGGCAGCACC	0.647													-	1432590	G	-	1432590	7	5	80	1	0	1	0	1	0	0	0	0	4244	1116	39	0	991	0	DAZAP1	19	1432590	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	313509	1432590	57696393	990	54932											
PCSK4	54760	broad.mit.edu	37	chr19	1487181	1487181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcgcgggtgaggatgcCggggccgtccaccgtgcggc	19	14	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:1487181C>T	uc002ltb.1	-	7	876	c.814G>A	c.(814-816)GGC>AGC	p.G272S	PCSK4_uc002lta.2_Missense_Mutation_p.G84S	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	272	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAGGATGCCGGGGCCGTCC	0.721													T	1487181	C	T	1487181	3	4	80	1	0	0	0	0	1	0	0	0	11602	652	23	1	1489	1	PCSK4	19	1487181	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	54591	1487181	57641802	991	54933											
REXO1	57455	broad.mit.edu	37	chr19	1817235	1817235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatctcgcagtccagggCgtagatccccgggtgggtgt	14	13	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:1817235C>T	uc002lua.3	-	12	3279	c.3184G>A	c.(3184-3186)GCC>ACC	p.A1062T	REXO1_uc010dsq.2_Missense_Mutation_p.A371T|REXO1_uc010xgs.1_Missense_Mutation_p.A48T|MIR1909_hsa-mir-1909|MI0008330_5'Flank|REXO1_uc010dsp.1_RNA	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	1062	Exonuclease.					nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTCCAGGGCGTAGATCCCC	0.647													T	1817235	C	T	1817235	3	4	80	1	0	0	0	0	1	0	0	0	13241	768	27	1	501	1	REXO1	19	1817235	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	330054	1817235	57311748	992	54934											
AP3D1	8943	broad.mit.edu	37	chr19	2110223	2110223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgggcttcgttggagacgCctggcgggggcgagagggag	21	8	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:2110223C>T	uc002luz.2	-	26	3213	c.2990G>A	c.(2989-2991)GGC>GAC	p.G997D	AP3D1_uc010dsv.2_Missense_Mutation_p.G87D|AP3D1_uc002luy.2_Missense_Mutation_p.G956D|AP3D1_uc002lva.2_Missense_Mutation_p.G1059D	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	997					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGGAGACGCCTGGCGGGGG	0.627													T	2110223	C	T	2110223	3	4	80	1	0	0	0	0	1	0	0	0	746	753	26	2	491	2	AP3D1	19	2110223	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	292988	2110223	57018760	993	54935											
ZNF77	58492	broad.mit.edu	37	chr19	2933664	2933666	+	In_Frame_Del	DEL	ACT	ACT	-													cattcgtagggtttgaccccActgtgtgatctcacatgctt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:2933664_2933666delACT	uc002lws.3	-	4	1590_1592	c.1459_1461delAGT	c.(1459-1461)AGTdel	p.S487del		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	zinc finger protein 77	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTTGACCCCACTGTGTGATCTC	0.507													-	2933666	ACT	-	2933664	7	5	80	1	0	1	0	1	0	0	0	0	18139	156	6	0	180	0	ZNF77	19	2933664	In_Frame_Del	DEL	ACT	TCGA-BR-8368-01A-11D-2340-08	823441	2933664	56195319	994	54936											
DOHH	83475	broad.mit.edu	37	chr19	3496787	3496787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccagcgtctgcccgatgGcatccacctcctgctccgtc	8	20	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:3496787G>A	uc002lxs.2	-	2	189	c.26C>T	c.(25-27)GCC>GTC	p.A9V	DOHH_uc010xhl.1_Missense_Mutation_p.A9V	NM_031304	NP_112594	Q9BU89	DOHH_HUMAN	deoxyhypusine hydroxylase/monooxygenase	9					peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCCGATGGCATCCACCTC	0.672													A	3496787	G	A	3496787	3	1	80	1	0	0	0	0	1	0	0	0	4695	1203	42	2	898	2	DOHH	19	3496787	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	563123	3496787	55632196	995	54937											
C19orf29	58509	broad.mit.edu	37	chr19	3613180	3613180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgtacctgccggcgtcGtagtcgtccaggctctgctg	15	13	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:3613180G>A	uc002lyh.2	-	9	1715	c.1662C>T	c.(1660-1662)TAC>TAT	p.Y554Y	C19orf29_uc010xho.1_Silent_p.Y13Y|C19orf29_uc010dtn.2_Silent_p.Y402Y|C19orf29_uc002lyi.3_Silent_p.Y554Y|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	554						catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGGCGTCGTAGTCGTCCA	0.711													A	3613180	G	A	3613180	2	1	80	1	0	0	0	0	0	0	0	1	1918	1140	40	1		1	C19orf29	19	3613180	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	116393	3613180	55515803	996	54938											
CHAF1A	10036	broad.mit.edu	37	chr19	4430584	4430584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaggatgaagatgaggaCgatggtttctttgtgcccca	15	6	1	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:4430584C>T	uc002mal.2	+	11	1993	c.1893C>T	c.(1891-1893)GAC>GAT	p.D631D		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	631					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGATGAGGACGATGGTTTCT	0.463								Chromatin_Structure					T	4430584	C	T	4430584	2	4	80	1	0	0	0	0	0	0	0	1	3311	535	19	1		1	CHAF1A	19	4430584	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	817404	4430584	54698399	997	54939											
PLIN4	729359	broad.mit.edu	37	chr19	4512150	4512150	+	Frame_Shift_Del	DEL	C	C	-													ccctttggcgacattcactgCccccacgagcccagtagtca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:4512149_4512149GC>G	uc002mar.1	-	2	1781	c.1781_1781GC>C	c.(1780-1782)gcafs	p.A594fs	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	594	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GACATTCACTGCCCCCACGAG	0.597													-	4512150	C	-	4512150	7	5	80	1	0	1	0	1	0	0	0	0	12092	739	26	0	2309	0	PLIN4	19	4512150	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	81566	4512150	54616833	998	54940											
SEMA6B	10501	broad.mit.edu	37	chr19	4558377	4558377	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccacgctaagcggcggCggctcctcaggaaagaggcc	17	13	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:4558377C>T	uc010duc.1	-	1	131	c.93G>A	c.(91-93)CCG>CCA	p.P31P	SEMA6B_uc010dud.2_Silent_p.P31P|SEMA6B_uc010xih.1_Silent_p.P31P	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	31	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TAAGCGGCGGCGGCTCCTCAG	0.706											OREG0025169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	4558377	C	T	4558377	2	4	80	1	0	0	0	0	0	0	0	1	14040	755	27	1		1	SEMA6B	19	4558377	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	46227	4558377	54570606	999	54941											
ARRDC5	645432	broad.mit.edu	37	chr19	4902691	4902691	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcttcactccattcgacGtaaccccttcccacgagctc	5	18	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:4902691G>A	uc002mbm.2	-	1	189	c.189C>T	c.(187-189)TAC>TAT	p.Y63Y		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	63					signal transduction						0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TCCATTCGACGTAACCCCTTC	0.507													A	4902691	G	A	4902691	2	1	80	1	0	0	0	0	0	0	0	1	986	1140	40	1		1	ARRDC5	19	4902691	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	344314	4902691	54226292	1000	54942											
STXBP2	6813	broad.mit.edu	37	chr19	7704641	7704641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagacatcaacaaacggcGggaacccattcccagtctgg	10	12	2	2	rs141717050		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:7704641G>A	uc002mha.3	+	4	239	c.194G>A	c.(193-195)CGG>CAG	p.R65Q	STXBP2_uc002mhb.3_Missense_Mutation_p.R65Q|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Missense_Mutation_p.R65Q|STXBP2_uc010dvk.2_Missense_Mutation_p.R33Q|STXBP2_uc002mhc.3_5'UTR|STXBP2_uc010dvl.1_5'Flank	NM_006949	NP_008880	Q15833	STXB2_HUMAN	syntaxin binding protein 2 isoform a	65					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			central_nervous_system(1)	1						AACAAACGGCGGGAACCCATT	0.493													A	7704641	G	A	7704641	3	1	80	1	0	0	0	0	1	0	0	0	15352	1116	39	1	208	1	STXBP2	19	7704641	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2801950	7704641	51424342	1001	54943											
MAP2K7	5609	broad.mit.edu	37	chr19	7975374	7975374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacaaggaggagaacaagCgcatcctcatggacctggat	13	9	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:7975374C>T	uc002mit.2	+	5	549	c.484C>T	c.(484-486)CGC>TGC	p.R162C	MAP2K7_uc002miv.2_Missense_Mutation_p.R162C|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.R162C|MAP2K7_uc010dvv.2_Missense_Mutation_p.R37C	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	162	Protein kinase.		R -> H (in a colorectal adenocarcinoma sample; somatic mutation).|R -> C (in a colorectal adenocarcinoma sample; somatic mutation).		activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R162H(1)|p.R162C(1)		large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	GGAGAACAAGCGCATCCTCAT	0.637													T	7975374	C	T	7975374	3	4	80	1	0	0	0	0	1	0	0	0	9242	768	27	1	502	1	MAP2K7	19	7975374	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	270733	7975374	51153609	1002	54944											
MAP2K7	5609	broad.mit.edu	37	chr19	7976016	7976016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactccaaagccaagacgcGgagcgccggctgtgccgcct	14	15	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:7976016G>A	uc002mit.2	+	7	892	c.827G>A	c.(826-828)CGG>CAG	p.R276Q	MAP2K7_uc002miv.2_Missense_Mutation_p.R276Q|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.R276Q|MAP2K7_uc010dvv.2_Missense_Mutation_p.R151Q	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	276	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	GCCAAGACGCGGAGCGCCGGC	0.692													A	7976016	G	A	7976016	3	1	80	1	0	0	0	0	1	0	0	0	9242	1116	39	1	853	1	MAP2K7	19	7976016	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	642	7976016	51152967	1003	54945											
ELAVL1	1994	broad.mit.edu	37	chr19	8028518	8028518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgttggtgttgaagtcgCggatcactttcacattggtg	12	7	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:8028518C>T	uc002mjb.2	-	6	997	c.830G>A	c.(829-831)CGC>CAC	p.R277H		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	ELAV-like 1	277	RRM 3.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding				0						GTTGAAGTCGCGGATCACTTT	0.542													T	8028518	C	T	8028518	3	4	80	1	0	0	0	0	1	0	0	0	5049	768	27	1	154	1	ELAVL1	19	8028518	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	52502	8028518	51100465	1004	54946											
FBN3	84467	broad.mit.edu	37	chr19	8197972	8197972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttgacgcacatggtgctgGtggcacactcgttgtggtct	14	10	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:8197972G>A	uc002mjf.2	-	13	1631	c.1610C>T	c.(1609-1611)ACC>ATC	p.T537I		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	537	EGF-like 6; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CATGGTGCTGGTGGCACACTC	0.647													A	8197972	G	A	8197972	3	1	80	1	0	0	0	0	1	0	0	0	5704	1261	44	4	7023	4	FBN3	19	8197972	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	169454	8197972	50931011	1005	54947											
MARCH2	51257	broad.mit.edu	37	chr19	8495651	8495651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggctggttgtgcctgcGcggggcccaggaccacctcc	14	16	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:8495651G>A	uc002mjv.2	+	5	923	c.482G>A	c.(481-483)CGC>CAC	p.R161H	MARCH2_uc002mjw.2_Missense_Mutation_p.R161H|MARCH2_uc002mjx.2_Intron	NM_016496	NP_057580	Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2	161					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TTGTGCCTGCGCGGGGCCCAG	0.657													A	8495651	G	A	8495651	3	1	80	1	0	0	0	0	1	0	0	0	9301	1087	38	1	492	1	MARCH2	19	8495651	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	297679	8495651	50633332	1006	54948											
MUC16	94025	broad.mit.edu	37	chr19	9084370	9084370	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gattttctccggaggcagtgTcagtgctgaccatggtgctg	14	9	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:9084370T>G	uc002mkp.2	-	1	7649	c.7445A>C	c.(7444-7446)GAC>GCC	p.D2482A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2482	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGAGGCAGTGTCAGTGCTGAC	0.502											OREG0006611	type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	G	9084370	T	G	9084370	3	3	80	1	0	0	0	0	1	0	0	0	9973	1667	58	5	36414	5	MUC16	19	9084370	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	588719	9084370	50044613	1007	54949											
OR7D2	162998	broad.mit.edu	37	chr19	9296544	9296544	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctacagccgttcatatttggGctgttcctgtccatgtacct	8	12	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:9296544G>C	uc002mkz.1	+	1	275	c.87G>C	c.(85-87)GGG>GGC	p.G29G		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D,	29	Helical; Name=1; (Potential).				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|upper_aerodigestive_tract(1)	3						TCATATTTGGGCTGTTCCTGT	0.502													C	9296544	G	C	9296544	2	2	80	1	0	0	0	0	0	0	0	1	11219	1190	42	5		5	OR7D2	19	9296544	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	212174	9296544	49832439	1008	54950											
ZNF562	54811	broad.mit.edu	37	chr19	9764018	9764018	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggatgaggaatttctaaaGgatcttccacattctttaca	7	7	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:9764018G>T	uc010xks.1	-	6	1051	c.888C>A	c.(886-888)TCC>TCA	p.S296S	ZNF562_uc002mly.2_Silent_p.S296S|ZNF562_uc002mlx.2_Silent_p.S224S|ZNF562_uc010xkt.1_Silent_p.S259S|ZNF562_uc010xku.1_Silent_p.S227S|ZNF562_uc010xkv.1_Silent_p.S295S|ZNF562_uc010xkw.1_Silent_p.S180S	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN	zinc finger protein 562 isoform a	296	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AATTTCTAAAGGATCTTCCAC	0.363													T	9764018	G	T	9764018	2	4	80	1	0	0	0	0	0	0	0	1	17990	987	35	5		5	ZNF562	19	9764018	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	467474	9764018	49364965	1009	54951											
DNM2	1785	broad.mit.edu	37	chr19	10940882	10940883	+	Frame_Shift_Ins	INS	-	-	C													gaggggccccactccagggcINScccccctgattcctgttccc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:10940881_10940882G>GC	uc002mpt.2	+	19	2560_2561	c.2370_2371G>GC	c.(2368-2373)gggcccfs	p.G790fs	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Frame_Shift_Ins_p.G790fs|DNM2_uc010dxl.2_Frame_Shift_Ins_p.G790fs|DNM2_uc002mpu.2_Frame_Shift_Ins_p.G786fs|DNM2_uc002mpv.2_Frame_Shift_Ins_p.G786fs|DNM2_uc002mpw.3_Frame_Shift_Ins_p.G519fs|DNM2_uc002mpx.1_Frame_Shift_Ins_p.G146fs	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	790	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCACTCCAGGGCCCCCCCTGAT	0.693			"F, N, Splice, Mis, O"		ETP ALL								C	10940883	-	C	10940882	7	5	80	1	0	1	1	0	0	0	0	0	4672	739	26	0	2592	0	DNM2	19	10940882	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	1176864	10940882	48188101	1010	54952											
SMARCA4	6597	broad.mit.edu	37	chr19	11132542	11132542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctgcagaacaagcttcccGagctctgggcgctgctcaac	11	15	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:11132542G>A	uc002mqf.3	+	19	3042	c.2758G>A	c.(2758-2760)GAG>AAG	p.E920K	SMARCA4_uc010dxp.2_Missense_Mutation_p.E920K|SMARCA4_uc010dxo.2_Missense_Mutation_p.E920K|SMARCA4_uc002mqg.1_Missense_Mutation_p.E920K|SMARCA4_uc010dxq.2_Missense_Mutation_p.E920K|SMARCA4_uc010dxr.2_Missense_Mutation_p.E920K|SMARCA4_uc002mqj.3_Missense_Mutation_p.E920K|SMARCA4_uc010dxs.2_Missense_Mutation_p.E920K|SMARCA4_uc010dxt.1_Missense_Mutation_p.E140K|SMARCA4_uc002mqh.3_Missense_Mutation_p.E43K|SMARCA4_uc002mqi.1_Missense_Mutation_p.E123K	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	920	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAAGCTTCCCGAGCTCTGGGC	0.602			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				A	11132542	G	A	11132542	3	1	80	1	0	0	0	0	1	0	0	0	14770	1059	37	1	2828	1	SMARCA4	19	11132542	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	191660	11132542	47996441	1011	54953											
SMARCA4	6597	broad.mit.edu	37	chr19	11135079	11135079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacatgcaggccaagggcGtgctgctgactgatggctcc	14	13	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:11135079G>A	uc002mqf.3	+	21	3330	c.3046G>A	c.(3046-3048)GTG>ATG	p.V1016M	SMARCA4_uc010dxp.2_Missense_Mutation_p.V1016M|SMARCA4_uc010dxo.2_Missense_Mutation_p.V1016M|SMARCA4_uc002mqg.1_Missense_Mutation_p.V1016M|SMARCA4_uc010dxq.2_Missense_Mutation_p.V1016M|SMARCA4_uc010dxr.2_Missense_Mutation_p.V1016M|SMARCA4_uc002mqj.3_Missense_Mutation_p.V1016M|SMARCA4_uc010dxs.2_Missense_Mutation_p.V1016M|SMARCA4_uc010dxt.1_Missense_Mutation_p.V236M|SMARCA4_uc002mqh.3_Missense_Mutation_p.V139M|SMARCA4_uc002mqi.1_Missense_Mutation_p.V219M	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1016					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCCAAGGGCGTGCTGCTGAC	0.622			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				A	11135079	G	A	11135079	3	1	80	1	0	0	0	0	1	0	0	0	14770	1145	40	1	3124	1	SMARCA4	19	11135079	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2537	11135079	47993904	1012	54954											
CNN1	1264	broad.mit.edu	37	chr19	11660378	11660378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgcaggctggcatgactgCgccagggaccaagcggcaga	15	12	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:11660378C>T	uc002msc.1	+	7	826	c.662C>T	c.(661-663)GCG>GTG	p.A221V	CNN1_uc010xmb.1_Missense_Mutation_p.A171V|CNN1_uc010xmc.1_Missense_Mutation_p.A171V	NM_001299	NP_001290	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	221	Calponin-like 2.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding				0						GGCATGACTGCGCCAGGGACC	0.692													T	11660378	C	T	11660378	3	4	80	1	0	0	0	0	1	0	0	0	3609	768	27	1	688	1	CNN1	19	11660378	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	525299	11660378	47468605	1013	54955											
ZNF441	126068	broad.mit.edu	37	chr19	11891075	11891075	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccatatacacatacacaaTgtgggacagctttcagttat	7	9	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:11891075T>C	uc010dyj.2	+	4	630	c.436T>C	c.(436-438)TGT>CGT	p.C146R	ZNF441_uc002msn.3_Missense_Mutation_p.C102R	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ACATACACAATGTGGGACAGC	0.403													C	11891075	T	C	11891075	3	2	80	1	0	0	0	0	1	0	0	0	17911	1464	51	3	450	3	ZNF441	19	11891075	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	230697	11891075	47237908	1014	54956											
HOOK2	29911	broad.mit.edu	37	chr19	12875651	12875651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggccttgtccacgtagcGgcggtatcgctcctccatgg	14	14	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:12875651G>A	uc002muy.2	-	20	1975	c.1804C>T	c.(1804-1806)CGC>TGC	p.R602C	HOOK2_uc010xmq.1_Missense_Mutation_p.R7C|HOOK2_uc002muz.2_Missense_Mutation_p.R600C	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	602	Sufficient for interaction with CEP110.|Required for localization to the centrosome and induction of aggresome formation.|Potential.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			ovary(1)|breast(1)|skin(1)	3						TCCACGTAGCGGCGGTATCGC	0.607											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	12875651	G	A	12875651	3	1	80	1	0	0	0	0	1	0	0	0	7283	1116	39	1	371	1	HOOK2	19	12875651	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	984576	12875651	46253332	1015	54957											
MAST1	22983	broad.mit.edu	37	chr19	12985336	12985336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctcagcctctgggcgcGgactccaaggggttgcagga	16	12	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:12985336G>A	uc002mvm.2	+	26	4493	c.4365G>A	c.(4363-4365)GCG>GCA	p.A1455A		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1455					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CTCTGGGCGCGGACTCCAAGG	0.731													A	12985336	G	A	12985336	2	1	80	1	0	0	0	0	0	0	0	1	9324	1103	39	1		1	MAST1	19	12985336	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	109685	12985336	46143647	1016	54958											
ZSWIM4	65249	broad.mit.edu	37	chr19	13941853	13941853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgcttttggtgcgggagCgttttggttgagggacagtg	17	5	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:13941853C>T	uc002mxh.1	+	13	3148	c.2959C>T	c.(2959-2961)CGT>TGT	p.R987C	ZSWIM4_uc010xng.1_Missense_Mutation_p.R910C	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	987							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GGTGCGGGAGCGTTTTGGTTG	0.597													T	13941853	C	T	13941853	3	4	80	1	0	0	0	0	1	0	0	0	18240	768	27	1	3009	1	ZSWIM4	19	13941853	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	956517	13941853	45187130	1017	54959											
ILVBL	10994	broad.mit.edu	37	chr19	15233799	15233799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaaacttacagagtggccGgaaaagggacagctgatcaa	11	8	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:15233799G>A	uc002nam.2	-	5	629	c.508C>T	c.(508-510)CGG>TGG	p.R170W	ILVBL_uc010dzw.2_Missense_Mutation_p.R63W|ILVBL_uc010dzx.1_Missense_Mutation_p.R170W	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	170						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			ovary(2)	2						CAGAGTGGCCGGAAAAGGGAC	0.632													A	15233799	G	A	15233799	3	1	80	1	0	0	0	0	1	0	0	0	7715	1115	39	1	1438	1	ILVBL	19	15233799	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1291946	15233799	43895184	1018	54960											
CYP4F8	11283	broad.mit.edu	37	chr19	15739191	15739191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccccaatccctacattcGcccgcggctgcacccaggac	7	20	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:15739191G>A	uc002nbi.2	+	12	1259	c.1195G>A	c.(1195-1197)GCC>ACC	p.A399T	CYP4F8_uc010xoj.1_Missense_Mutation_p.A211T	NM_007253	NP_009184	P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F,	399					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			large_intestine(1)	1						CCCTACATTCGCCCGCGGCTG	0.637													A	15739191	G	A	15739191	3	1	80	1	0	0	0	0	1	0	0	0	4191	1087	38	1	1228	1	CYP4F8	19	15739191	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	505392	15739191	43389792	1019	54961											
USHBP1	83878	broad.mit.edu	37	chr19	17366391	17366391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgccgcaccagctgcagccGaagcatcaggtccgccaggg	13	16	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:17366391G>A	uc002nfs.1	-	10	1608	c.1495C>T	c.(1495-1497)CGG>TGG	p.R499W	USHBP1_uc002nfr.1_Missense_Mutation_p.R125W|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.R435W	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	499	Potential.						PDZ domain binding			ovary(1)	1						AGCTGCAGCCGAAGCATCAGG	0.652													A	17366391	G	A	17366391	3	1	80	1	0	0	0	0	1	0	0	0	17034	1057	37	1	632	1	USHBP1	19	17366391	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1627200	17366391	41762592	1020	54962											
USHBP1	83878	broad.mit.edu	37	chr19	17373521	17373521	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccctgccccttcctgcttcCcaagggaacctgctccccct	6	21	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:17373521C>A	uc002nfs.1	-	4	595	c.482G>T	c.(481-483)GGG>GTG	p.G161V	USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.G97V|USHBP1_uc010eam.1_Missense_Mutation_p.G89V	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	161							PDZ domain binding			ovary(1)	1						TTCCTGCTTCCCAAGGGAACC	0.682													A	17373521	C	A	17373521	3	1	80	1	0	0	0	0	1	0	0	0	17034	623	22	5	1669	5	USHBP1	19	17373521	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	7130	17373521	41755462	1021	54963											
ABHD8	79575	broad.mit.edu	37	chr19	17412206	17412206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctgacagcggaccaagcCggagaggtccccctgggctg	16	14	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:17412206C>T	uc002ngb.3	-	2	460	c.220G>A	c.(220-222)GGC>AGC	p.G74S		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	74							hydrolase activity				0						CGGACCAAGCCGGAGAGGTCC	0.697													T	17412206	C	T	17412206	3	4	80	1	0	0	0	0	1	0	0	0	87	652	23	1	1115	1	ABHD8	19	17412206	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	38685	17412206	41716777	1022	54964											
MAP1S	55201	broad.mit.edu	37	chr19	17838362	17838362	+	Frame_Shift_Del	DEL	C	C	-													ctgagcctcccgctgcgtggCccccgggcgcggcgctcggc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:17838362delC	uc002nhe.1	+	5	2178	c.2169delC	c.(2167-2169)GGCfs	p.G723fs	MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_5'UTR|MAP1S_uc010xpv.1_Frame_Shift_Del_p.G697fs	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	723	Pro-rich.|Necessary for the microtubule-organizing center localization.|Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						CGCTGCGTGGCCCCCGGGCGC	0.682													-	17838362	C	-	17838362	7	5	80	1	0	1	0	1	0	0	0	0	9234	726	26	0	2187	0	MAP1S	19	17838362	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	426156	17838362	41290621	1023	54965											
B3GNT3	10331	broad.mit.edu	37	chr19	17918981	17918981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccctagcaactatgtgcGccgcgagctgctgcggcgca	12	16	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:17918981G>A	uc002nhk.1	+	2	450	c.365G>A	c.(364-366)CGC>CAC	p.R122H	B3GNT3_uc002nhl.1_Missense_Mutation_p.R122H|B3GNT3_uc010ebd.1_Missense_Mutation_p.R122H|B3GNT3_uc010ebe.1_Missense_Mutation_p.R122H	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal	122	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			upper_aerodigestive_tract(1)	1						AACTATGTGCGCCGCGAGCTG	0.677													A	17918981	G	A	17918981	3	1	80	1	0	0	0	0	1	0	0	0	1258	1087	38	1	367	1	B3GNT3	19	17918981	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	80619	17918981	41210002	1024	54966											
KLHL26	55295	broad.mit.edu	37	chr19	18779936	18779936	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctcaacaacgtcacgggcAtcgtacaggtgtacaacacg	10	12	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:18779936A>G	uc002njz.1	+	3	1756	c.1729A>G	c.(1729-1731)ATC>GTC	p.I577V		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	577	Kelch 6.									ovary(1)	1						CGTCACGGGCATCGTACAGGT	0.662													G	18779936	A	G	18779936	3	3	80	1	0	0	0	0	1	0	0	0	8381	217	8	3	1739	3	KLHL26	19	18779936	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	860955	18779936	40349047	1025	54967											
CILP2	148113	broad.mit.edu	37	chr19	19656228	19656229	+	Frame_Shift_Ins	INS	-	-	G													tggtccgctcccacaacgcaINSgggggcagccacccacgcac							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:19656228_19656229insG	uc002nmv.3	+	8	2959_2960	c.2874_2875insG	c.(2872-2877)GCAGGGfs	p.A958fs	CILP2_uc002nmw.3_Frame_Shift_Ins_p.A964fs	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	958_959						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						CCCACAACGCAGGGGGCAGCCA	0.683													G	19656229	-	G	19656228	7	5	80	1	0	1	1	0	0	0	0	0	3430	175	7	0	2904	0	CILP2	19	19656228	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	876292	19656228	39472755	1026	54968	231	2									
CILP2	148113	broad.mit.edu	37	chr19	19656229	19656230	+	Frame_Shift_Ins	INS	-	-	G													ggtccgctcccacaacgcagINSggggcagccacccacgcacc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:19656228_19656229A>AG	uc002nmw.4	+	7	2977_2978	c.2892_2893A>AG	c.(2890-2895)gcagggfs	p.A964fs	CILP2_uc002nmv.4_Frame_Shift_Ins_p.A958fs	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	958						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCCACAACGCAGGGGGCAGCCA	0.683													G	19656230	-	G	19656229	7	5	80	1	0	1	1	0	0	0	0	0	3430	1000	35	0	2905	0	CILP2	19	19656229	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	1	19656229	39472754	1027	54969	231	2									
PBX4	80714	broad.mit.edu	37	chr19	19681602	19681602	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcctcaggagctgggcGtcagggggatcttcgtcttg	15	11	4	0	rs112528821		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:19681602G>A	uc002nmy.2	-	3	235	c.234C>T	c.(232-234)GAC>GAT	p.D78D	PBX4_uc010xqz.1_RNA|PBX4_uc010xra.1_Translation_Start_Site	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	78							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						GGAGCTGGGCGTCAGGGGGAT	0.557													A	19681602	G	A	19681602	2	1	80	1	0	0	0	0	0	0	0	1	11495	1136	40	1		1	PBX4	19	19681602	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	25373	19681602	39447381	1028	54970											
ZNF14	7561	broad.mit.edu	37	chr19	19823267	19823267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatttgtagggtttttctcCagtgtgagttctttcatgag	10	6	3	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:19823267C>T	uc002nnk.1	-	4	977	c.823G>A	c.(823-825)GGA>AGA	p.G275R		NM_021030	NP_066358	P17017	ZNF14_HUMAN	zinc finger protein 14	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Renal(1328;0.0474)				GGTTTTTCTCCAGTGTGAGTT	0.403													T	19823267	C	T	19823267	3	4	80	1	0	0	0	0	1	0	0	0	17725	603	21	4	1109	4	ZNF14	19	19823267	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	141665	19823267	39305716	1029	54971											
ZNF676	163223	broad.mit.edu	37	chr19	22375844	22375844	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttcttccaccatctcatgtCtcttcatattccagggctct	5	14	5	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:22375844C>A	uc002nqs.1	-	2	422	c.104G>T	c.(103-105)AGA>ATA	p.R35I		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CATCTCATGTCTCTTCATATT	0.413													A	22375844	C	A	22375844	3	1	80	1	0	0	0	0	1	0	0	0	18080	913	32	5	1670	5	ZNF676	19	22375844	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2552577	22375844	36753139	1030	54972											
ZNF536	9745	broad.mit.edu	37	chr19	30936377	30936377	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaccgagtgccccgactgCggccgggtgttccgcactta	12	17	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:30936377C>T	uc002nsu.1	+	2	2046	c.1908C>T	c.(1906-1908)TGC>TGT	p.C636C	ZNF536_uc010edd.1_Silent_p.C636C	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	636	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GCCCCGACTGCGGCCGGGTGT	0.627													T	30936377	C	T	30936377	2	4	80	1	0	0	0	0	0	0	0	1	17971	776	27	1		1	ZNF536	19	30936377	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	8560533	30936377	28192606	1031	54973											
FFAR2	2867	broad.mit.edu	37	chr19	35940790	35940790	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgctggccgacctcctcctGctgctgctgctgcccttcaa	9	18	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:35940790G>C	uc002nzg.2	+	2	254	c.174G>C	c.(172-174)CTG>CTC	p.L58L	FFAR2_uc010eea.2_Silent_p.L58L	NM_005306	NP_005297	O15552	FFAR2_HUMAN	free fatty acid receptor 2	58	Helical; Name=2; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding			central_nervous_system(1)	1	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACCTCCTCCTGCTGCTGCTGC	0.647													C	35940790	G	C	35940790	2	2	80	1	0	0	0	0	0	0	0	1	5828	1306	46	5		5	FFAR2	19	35940790	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	5004413	35940790	23188193	1032	54974											
RBM42	79171	broad.mit.edu	37	chr19	36124665	36124665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggaagaggcagtggtggCggcggcggctgggctggagg	24	6	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:36124665C>T	uc002oan.2	+	7	837	c.761C>T	c.(760-762)GCG>GTG	p.A254V	RBM42_uc010eef.2_Missense_Mutation_p.A200V|RBM42_uc002oao.2_Missense_Mutation_p.A232V|RBM42_uc002oap.2_Missense_Mutation_p.A224V|RBM42_uc002oaq.2_Missense_Mutation_p.A225V|RBM42_uc010eeg.2_Missense_Mutation_p.A225V	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	254	Necessary for interaction with HNRNPK (By similarity).|Pro-rich.					cytoplasm|nucleus	nucleotide binding|RNA binding				0	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCAGTGGTGGCGGCGGCGGCT	0.697													T	36124665	C	T	36124665	3	4	80	1	0	0	0	0	1	0	0	0	13136	768	27	1	787	1	RBM42	19	36124665	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	183875	36124665	23004318	1033	54975											
MLL2	8085	broad.mit.edu	37	chr19	36210764	36210765	+	Frame_Shift_Ins	INS	-	-	C													ctagcagatgtggctcctacINSccccccaaagacccctgccc					rs60207923	by1000genomes	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:36210763_36210764A>AC	uc021usv.1	+	2	514_515	c.514_515A>AC	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAAG	0.634			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			C	36210765	-	C	36210764	7	5	80	1	0	1	1	0	0	0	0	0	9621	507	18	0		0	MLL2	19	36210764	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	86099	36210764	22918219	1034	54976											
C19orf55	148137	broad.mit.edu	37	chr19	36258757	36258757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagcggggtcagtgatacGgaagagcgaagccactcctt	14	11	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:36258757G>A	uc002obq.1	+	9	1083	c.1010G>A	c.(1009-1011)CGG>CAG	p.R337Q		NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	hypothetical protein LOC148137	337										ovary(1)	1	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCAGTGATACGGAAGAGCGAA	0.647													A	36258757	G	A	36258757	3	1	80	1	0	0	0	0	1	0	0	0	1937	1116	39	1	1044	1	C19orf55	19	36258757	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	47993	36258757	22870226	1035	54977											
ARHGAP33	115703	broad.mit.edu	37	chr19	36272095	36272095	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgagttcattgaggcccaCggggtggtggatgggatcta	16	8	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:36272095C>T	uc002obr.1	+	12	1111	c.1026C>T	c.(1024-1026)CAC>CAT	p.H342H	ARHGAP33_uc002obs.1_Silent_p.H342H|ARHGAP33_uc002obt.1_Silent_p.H206H|ARHGAP33_uc010eel.2_5'Flank|ARHGAP33_uc002obv.1_5'Flank	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	342	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						TTGAGGCCCACGGGGTGGTGG	0.597													T	36272095	C	T	36272095	2	4	80	1	0	0	0	0	0	0	0	1	882	535	19	1		1	ARHGAP33	19	36272095	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	13338	36272095	22856888	1036	54978											
ARHGAP33	115703	broad.mit.edu	37	chr19	36276195	36276195	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccctcgaaagaagccccTgccctggctggggggcaccc	13	16	0	1	rs111354763		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:36276195T>C	uc002obr.1	+	18	1911	c.1826T>C	c.(1825-1827)CTG>CCG	p.L609P	ARHGAP33_uc002obs.1_Missense_Mutation_p.L609P|ARHGAP33_uc002obt.1_Missense_Mutation_p.L473P|ARHGAP33_uc010eel.2_Missense_Mutation_p.L197P|ARHGAP33_uc002obv.1_Missense_Mutation_p.L197P	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	609					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						AAGAAGCCCCTGCCCTGGCTG	0.677													C	36276195	T	C	36276195	3	2	80	1	0	0	0	0	1	0	0	0	882	1580	55	3	1896	3	ARHGAP33	19	36276195	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	4100	36276195	22852788	1037	54979											
ZNF566	84924	broad.mit.edu	37	chr19	36940209	36940209	+	Frame_Shift_Del	DEL	T	T	-													cattccttacattcatagggTttttccccagtatgaattct							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:36940208_36940208GT>G	uc010xtf.2	-	4	1066	c.931_931AC>C	c.(931-933)cccfs	p.P311fs	ZNF566_uc002oea.4_Frame_Shift_Del_p.P310fs|ZNF566_uc010xte.2_Frame_Shift_Del_p.P310fs|ZNF566_uc002oeb.4_Frame_Shift_Del_p.P310fs|ZNF566_uc002oec.4_Frame_Shift_Del_p.P206fs|ZNF566_uc010xtg.2_Frame_Shift_Del_p.P206fs	NM_001145343	NP_001138815	Q969W8	ZN566_HUMAN	Homo sapiens zinc finger protein 566 (ZNF566), transcript variant 4, mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					CATTCATAGGGTTTTTCCCCA	0.403													-	36940209	T	-	36940209	7	5	80	1	0	1	0	1	0	0	0	0	17994	1722	60	0	333	0	ZNF566	19	36940209	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	664014	36940209	22188774	1038	54980											
SPRED3	399473	broad.mit.edu	37	chr19	38882866	38882866	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggctcactcacccccTcctcctcctcctcctcctcc	2	27	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:38882866T>C	uc002oim.2	+	3	365	c.361T>C	c.(361-363)TCC>CCC	p.S121P	SPRED3_uc002oil.1_Missense_Mutation_p.S121P	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	121	Ser-rich.				multicellular organismal development					central_nervous_system(2)|lung(1)|skin(1)	4	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACTCAccccctcctcctcctc	0.532													C	38882866	T	C	38882866	3	2	80	1	0	0	0	0	1	0	0	0	15093	1551	54	3	371	3	SPRED3	19	38882866	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	1942657	38882866	20246117	1039	54981											
FCGBP	8857	broad.mit.edu	37	chr19	40433985	40433985	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcctatcatctcagccTtggcactgatgttgaccatg	9	12	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:40433985T>C	uc002omp.3	-	2	292	c.284A>G	c.(283-285)AAG>AGG	p.K95R		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	95	IgGFc-binding.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CATCTCAGCCTTGGCACTGAT	0.557													C	40433985	T	C	40433985	3	2	80	1	0	0	0	0	1	0	0	0	5778	1609	56	3	16073	3	FCGBP	19	40433985	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	1551119	40433985	18694998	1040	54982											
CNTD2	79935	broad.mit.edu	37	chr19	40729347	40729347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgaggcacagcagcgggCcggggtggtgcagccggaaa	19	12	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:40729347C>T	uc010xvi.1	-	4	669	c.620G>A	c.(619-621)GGC>GAC	p.G207D	CNTD2_uc002ond.2_RNA	NM_024877	NP_079153	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2 isoform 2	207					regulation of cyclin-dependent protein kinase activity		protein kinase binding				0						CAGCAGCGGGCCGGGGTGGTG	0.706													T	40729347	C	T	40729347	3	4	80	1	0	0	0	0	1	0	0	0	3636	739	26	2	311	2	CNTD2	19	40729347	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	295362	40729347	18399636	1041	54983											
LTBP4	8425	broad.mit.edu	37	chr19	41122916	41122916	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcagcccacgccagggggCggatgccagggtgggtgtcc	17	12	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:41122916C>T	uc002ooh.1	+	23	3135	c.3135C>T	c.(3133-3135)GGC>GGT	p.G1045G	LTBP4_uc002oog.1_Silent_p.G1008G|LTBP4_uc002ooi.1_Silent_p.G978G|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Intron|LTBP4_uc002ool.1_Intron|LTBP4_uc002oom.1_Intron|LTBP4_uc010xvp.1_Intron	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1045	Cys-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGCCAGGGGGCGGATGCCAGG	0.602													T	41122916	C	T	41122916	2	4	80	1	0	0	0	0	0	0	0	1	9076	755	27	1		1	LTBP4	19	41122916	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	393569	41122916	18006067	1042	54984											
CYP2A13	1553	broad.mit.edu	37	chr19	41601775	41601775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcagtcgcctaaggatatcGacgtgtcccccaaacacgtg	9	14	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:41601775G>A	uc002opt.2	+	9	1423	c.1414G>A	c.(1414-1416)GAC>AAC	p.D472N		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A,	472					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			ovary(2)|skin(1)	3					Clomipramine(DB01242)|Nicotine(DB00184)	TAAGGATATCGACGTGTCCCC	0.458													A	41601775	G	A	41601775	3	1	80	1	0	0	0	0	1	0	0	0	4161	1058	37	1	1448	1	CYP2A13	19	41601775	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	478859	41601775	17527208	1043	54985											
CYP2F1	1572	broad.mit.edu	37	chr19	41630686	41630686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgccggcgctgaaggacCgcgcggccatgccttacaca	14	15	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:41630686C>T	uc002opu.1	+	8	1083	c.1027C>T	c.(1027-1029)CGC>TGC	p.R343C	CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_3'UTR|CYP2F1_uc002opv.1_RNA	NM_000774	NP_000765	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F,	343					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0						GCTGAAGGACCGCGCGGCCAT	0.672													T	41630686	C	T	41630686	3	4	80	1	0	0	0	0	1	0	0	0	4171	652	23	1	1053	1	CYP2F1	19	41630686	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	28911	41630686	17498297	1044	54986											
ZNF574	64763	broad.mit.edu	37	chr19	42585373	42585373	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtcatggagactgctgTggaggcgctacccctggtgg	17	11	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:42585373T>C	uc002osm.3	+	2	2784	c.2615T>C	c.(2614-2616)GTG>GCG	p.V872A	ZNF574_uc002osk.3_Missense_Mutation_p.V962A	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	872					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				GAGACTGCTGTGGAGGCGCTA	0.637													C	42585373	T	C	42585373	3	2	80	1	0	0	0	0	1	0	0	0	18003	1696	59	3	2617	3	ZNF574	19	42585373	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	954687	42585373	16543610	1045	54987											
MEGF8	1954	broad.mit.edu	37	chr19	42853826	42853826	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagctaactctgctgtgggAtcggactggtgtgccaggag	16	9	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:42853826A>G	uc002otl.3	+	13	2908	c.2273A>G	c.(2272-2274)GAT>GGT	p.D758G	MEGF8_uc002otm.3_Missense_Mutation_p.D366G	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	825	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				CTGCTGTGGGATCGGACTGGT	0.632													G	42853826	A	G	42853826	3	3	80	1	0	0	0	0	1	0	0	0	9463	333	12	3	2323	3	MEGF8	19	42853826	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	268453	42853826	16275157	1046	54988											
MEGF8	1954	broad.mit.edu	37	chr19	42880471	42880471	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatgaccaagatggccagCcgccccttcgccaaggtcac	11	15	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:42880471C>T	uc002otl.3	+	41	8516	c.7881C>T	c.(7879-7881)AGC>AGT	p.S2627S	MEGF8_uc002otm.3_Silent_p.S2235S|MEGF8_uc002otn.3_Silent_p.S288S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2694	Cytoplasmic (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				AGATGGCCAGCCGCCCCTTCG	0.657													T	42880471	C	T	42880471	2	4	80	1	0	0	0	0	0	0	0	1	9463	738	26	2		2	MEGF8	19	42880471	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	26645	42880471	16248512	1047	54989											
PSG11	5680	broad.mit.edu	37	chr19	43530519	43530519	+	Frame_Shift_Del	DEL	C	C	-													cagggaggggctgagaggggCcccatgatctctgctgcgtg					rs145338245		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:43530518_43530518GC>G	uc002ovm.1	-	0	114	c.7_7GC>C	c.(7-9)cccfs	p.P3fs	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Frame_Shift_Del_p.P3fs|PSG11_uc002ovo.1_Frame_Shift_Del_p.P3fs	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	3					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GCTGAGAGGGGCCCCATGATC	0.587													-	43530519	C	-	43530519	7	5	80	1	0	1	0	1	0	0	0	0	12654	726	26	0	1021	0	PSG11	19	43530519	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	650048	43530519	15598464	1048	54990											
IRGQ	126298	broad.mit.edu	37	chr19	44096194	44096194	+	Frame_Shift_Del	DEL	G	G	-													ctcctcactgggcaggctcaGggggtgccagcacagcctca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:44096194delG	uc002oww.2	-	2	1974	c.1856delC	c.(1855-1857)CCTfs	p.P619fs	IRGQ_uc010eiv.2_Frame_Shift_Del_p.P619fs	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	619							protein binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0199)				GGCAGGCTCAGGGGGTGCCAG	0.657													-	44096194	G	-	44096194	7	5	80	1	0	1	0	1	0	0	0	0	7839	1000	35	0	19	0	IRGQ	19	44096194	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	565675	44096194	15032789	1049	54991											
ZC3H4	23211	broad.mit.edu	37	chr19	47572412	47572412	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cctcgctctctcctcctcctCctgctgcttctgctggatcc	6	20	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:47572412C>G	uc002pga.3	-	14	2373	c.2335G>C	c.(2335-2337)GAG>CAG	p.E779Q	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	779	Potential.						nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCCTCCTCCTGCTGCTTC	0.701													G	47572412	C	G	47572412	3	3	80	1	0	0	0	0	1	0	0	0	17567	864	30	5	1584	5	ZC3H4	19	47572412	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3476218	47572412	11556571	1050	54992											
SLC8A2	6543	broad.mit.edu	37	chr19	47969509	47969509	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacgggcagcagcacccccGgctggcagcggtaggacccc	14	17	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:47969509G>T	uc002pgx.2	-	2	430	c.152C>A	c.(151-153)CCG>CAG	p.P51Q	SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.P51Q	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	51	Extracellular (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CAGCACCCCCGGCTGGCAGCG	0.697													T	47969509	G	T	47969509	3	4	80	1	0	0	0	0	1	0	0	0	14707	1116	39	5	2649	5	SLC8A2	19	47969509	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	397097	47969509	11159474	1051	54993											
CRX	1406	broad.mit.edu	37	chr19	48337743	48337743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccccactattctgtcaacGccttggccctaagtggcccc	9	17	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:48337743G>A	uc002phq.3	+	2	247	c.43G>A	c.(43-45)GCC>ACC	p.A15T	CRX_uc010elm.1_Intron	NM_000554	NP_000545	O43186	CRX_HUMAN	cone-rod homeobox protein	15					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TTCTGTCAACGCCTTGGCCCT	0.592													A	48337743	G	A	48337743	3	1	80	1	0	0	0	0	1	0	0	0	3902	1087	38	1	45	1	CRX	19	48337743	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	368234	48337743	10791240	1052	54994											
GRIN2D	2906	broad.mit.edu	37	chr19	48918144	48918144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccggatgccccccgccCggaaaagcgctgctgcaagg	12	17	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:48918144C>T	uc002pjc.3	+	6	1524	c.1436C>T	c.(1435-1437)CCG>CTG	p.P479L		NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	479	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GCCCCCCGCCCGGAAAAGCGC	0.597													T	48918144	C	T	48918144	3	4	80	1	0	0	0	0	1	0	0	0	6782	652	23	1	1454	1	GRIN2D	19	48918144	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	580401	48918144	10210839	1053	54995											
LMTK3	114783	broad.mit.edu	37	chr19	49001494	49001494	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccccagggccccattctcCgccgccttctcctcgatgcc	8	21	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:49001494C>T	uc002pjk.2	-	12	2919	c.2919G>A	c.(2917-2919)GCG>GCA	p.A973A		NM_001080434	NP_001073903			lemur tyrosine kinase 3											lung(5)|central_nervous_system(1)	6		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CCCCATTCTCCGCCGCCTTCT	0.637													T	49001494	C	T	49001494	2	4	80	1	0	0	0	0	0	0	0	1	8860	639	23	1		1	LMTK3	19	49001494	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	83350	49001494	10127489	1054	54996											
LMTK3	114783	broad.mit.edu	37	chr19	49001688	49001688	+	Frame_Shift_Del	DEL	C	C	-													tcctgtctcccgggctgtcgCccccttctcccccaggaggt					rs35275345		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:49001688delC	uc002pjk.2	-	12	2725	c.2725delG	c.(2725-2727)GCGfs	p.A909fs		NM_001080434	NP_001073903			lemur tyrosine kinase 3											lung(5)|central_nervous_system(1)	6		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CGGGCTGTCGCCCCCTTCTCC	0.662													-	49001688	C	-	49001688	7	5	80	1	0	1	0	1	0	0	0	0	8860	739	26	0	1764	0	LMTK3	19	49001688	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	194	49001688	10127295	1055	54997											
TULP2	7288	broad.mit.edu	37	chr19	49388705	49388705	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgtcagagctctacccacCtgactttgcccacgaaattg	7	14	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:49388705C>A	uc002pkz.2	-	9	1212	c.1061G>T	c.(1060-1062)AGA>ATA	p.R354I		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	354					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CTCTACCCACCTGACTTTGCC	0.547													A	49388705	C	A	49388705	3	1	80	1	0	0	0	0	1	0	0	0	16771	695	24	5	521	5	TULP2	19	49388705	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	387017	49388705	9740278	1056	54998											
HRC	3270	broad.mit.edu	37	chr19	49658225	49658225	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggagacatcttcatcctcCttttcacggtctgggtggct	10	11	4	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:49658225C>A	uc002pmv.2	-	1	457	c.270G>T	c.(268-270)AAG>AAT	p.K90N	TRPM4_uc002pmw.2_5'Flank|TRPM4_uc010emu.2_5'Flank|TRPM4_uc010yak.1_5'Flank|TRPM4_uc002pmx.2_5'Flank|TRPM4_uc010emv.2_5'Flank|TRPM4_uc010yal.1_5'Flank	NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	90					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTTCATCCTCCTTTTCACGGT	0.537													A	49658225	C	A	49658225	3	1	80	1	0	0	0	0	1	0	0	0	7352	680	24	5	1853	5	HRC	19	49658225	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	269520	49658225	9470758	1057	54999											
PRR12	57479	broad.mit.edu	37	chr19	50099279	50099280	+	Frame_Shift_Del	DEL	CA	CA	-													gcggtgaggccagcccatctCacatcattcgtccgctccag							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:50099278_50099279TCA>T	uc002poo.4	+	3	1686_1687	c.1686_1687TCA>T	c.(1684-1689)tctcacfs	p.S562fs		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	330	Pro-rich.						DNA binding	p.S561S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCAGCCCATCTCACATCATTCG	0.678													-	50099280	CA	-	50099279	7	5	80	1	0	1	0	1	0	0	0	0	12584	826	29	0	1701	0	PRR12	19	50099279	Frame_Shift_Del	DEL	CA	TCGA-BR-8368-01A-11D-2340-08	441054	50099279	9029704	1058	55000											
AP2A1	160	broad.mit.edu	37	chr19	50302631	50302631	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaccagctgggccagttccTgcagcaccgggagaccaacc	11	16	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:50302631T>C	uc002ppn.2	+	9	1224	c.1013T>C	c.(1012-1014)CTG>CCG	p.L338P	AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Missense_Mutation_p.L338P|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	338					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GGCCAGTTCCTGCAGCACCGG	0.622													C	50302631	T	C	50302631	3	2	80	1	0	0	0	0	1	0	0	0	739	1580	55	3	1047	3	AP2A1	19	50302631	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	203352	50302631	8826352	1059	55001											
PTOV1	53635	broad.mit.edu	37	chr19	50363527	50363528	+	Frame_Shift_Ins	INS	-	-	G													ctgatttctcgccgtagatgINSggggggtagtggttaccccg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:50363526_50363527T>TG	uc002pqf.1	+	11	1411_1412	c.1241_1242T>TG	c.(1240-1242)atgfs	p.M414fs	PTOV1_uc002pqb.4_Frame_Shift_Ins_p.W359fs|PTOV1_uc002pqa.3_Non-coding_Transcript|PTOV1_uc002pqd.3_Non-coding_Transcript|PTOV1_uc002pqe.2_Non-coding_Transcript	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	Homo sapiens prostate tumor overexpressed 1 (PTOV1), mRNA.	414	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		p.*417fs?(1)		endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TCGCCGTAGATGGGGGGGTAGT	0.658													G	50363528	-	G	50363527	7	5	80	1	0	1	1	0	0	0	0	0	12769	1348	47	0	1288	0	PTOV1	19	50363527	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	60896	50363527	8765456	1060	55002											
NUP62	23636	broad.mit.edu	37	chr19	50411685	50411685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcggcgggggccccggaCgtgttcaggtgctcgatgat	18	10	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:50411685C>T	uc002pqx.2	-	2	1484	c.1380G>A	c.(1378-1380)ACG>ACA	p.T460T	IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Silent_p.T460T|NUP62_uc002pqz.2_Silent_p.T460T|NUP62_uc002pra.2_Silent_p.T460T|NUP62_uc002prb.2_Silent_p.T460T|NUP62_uc002prc.2_Silent_p.T384T	NM_153719	NP_714941	P37198	NUP62_HUMAN	nucleoporin 62kDa	460					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding				0		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGGCCCCGGACGTGTTCAGGT	0.582													T	50411685	C	T	50411685	2	4	80	1	0	0	0	0	0	0	0	1	10768	523	19	1		1	NUP62	19	50411685	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	48158	50411685	8717298	1061	55003											
CLEC11A	6320	broad.mit.edu	37	chr19	51228569	51228569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaccccgccccgagctcGgcgcccagcccagcgcctcg	11	23	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:51228569G>A	uc002psy.2	+	4	995	c.817G>A	c.(817-819)GGC>AGC	p.G273S		NM_002975	NP_002966	Q9Y240	CLC11_HUMAN	stem cell growth factor precursor	273	C-type lectin.				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			ovary(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCCCGAGCTCGGCGCCCAGCC	0.721													A	51228569	G	A	51228569	3	1	80	1	0	0	0	0	1	0	0	0	3496	1116	39	1	831	1	CLEC11A	19	51228569	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	816884	51228569	7900414	1062	55004											
KLK4	9622	broad.mit.edu	37	chr19	51411929	51411929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccggatggtgtcagactcGgacacggattcgtccaactt	11	12	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:51411929G>A	uc002pua.1	-	3	381	c.381C>T	c.(379-381)TCC>TCT	p.S127S	KLK4_uc002pty.1_Silent_p.S78S|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_Silent_p.S32S|KLK4_uc002puc.1_RNA|KLK4_uc010eoi.1_Silent_p.S32S|KLK4_uc002pud.1_Silent_p.S32S	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4 preproprotein	127	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		TGTCAGACTCGGACACGGATT	0.602													A	51411929	G	A	51411929	2	1	80	1	0	0	0	0	0	0	0	1	8406	1103	39	1		1	KLK4	19	51411929	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	183360	51411929	7717054	1063	55005											
KLK5	25818	broad.mit.edu	37	chr19	51453227	51453227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggctgggtgtgcatatcGcagtcggatccattgatgat	13	9	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:51453227G>A	uc002pue.2	-	4	437	c.219C>T	c.(217-219)TGC>TGT	p.C73C	KLK5_uc002puf.2_Silent_p.C73C|KLK5_uc002pug.2_Silent_p.C73C	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	73	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TGTGCATATCGCAGTCGGATC	0.662													A	51453227	G	A	51453227	2	1	80	1	0	0	0	0	0	0	0	1	8407	1079	38	1		1	KLK5	19	51453227	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	41298	51453227	7675756	1064	55006											
KLK8	11202	broad.mit.edu	37	chr19	51503682	51503683	+	Splice_Site	INS	-	-	T													ccccatcatccactcacggtINStttttacagtgggcagctgt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:51503681_51503682G>GT	uc002puq.1	-	3	551	c.365_splice	c.e3+1	p.P122_splice	KLK9_uc002puw.1_Splice_Site|KLK8_uc002pur.1_Splice_Site_p.P77_splice|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Splice_Site_p.P77_splice|KLK8_uc002puv.1_Intron	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	77	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TCCACTCACGGTTTTTTACAGT	0.599													T	51503683	-	T	51503682	8	5	80	1	0	1	1	0	0	0	1	0	8410	1722	60	0	570	0	KLK8	19	51503682	Splice_Site	INS	-	TCGA-BR-8368-01A-11D-2340-08	50455	51503682	7625301	1065	55007											
KLK10	5655	broad.mit.edu	37	chr19	51518125	51518125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgtagacagctggatgCtgggcagagccacaggggta	18	7	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:51518125C>T	uc002puy.2	-	6	843	c.762G>A	c.(760-762)CAG>CAA	p.Q254Q	KLK10_uc002puz.2_Silent_p.Q254Q|KLK10_uc002pva.2_Silent_p.Q254Q	NM_145888	NP_665895	O43240	KLK10_HUMAN	kallikrein-related peptidase 10 preproprotein	254	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			lung(2)	2		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CAGCTGGATGCTGGGCAGAGC	0.562													T	51518125	C	T	51518125	2	4	80	1	0	0	0	0	0	0	0	1	8398	796	28	2		2	KLK10	19	51518125	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	14443	51518125	7610858	1066	55008											
ZNF320	162967	broad.mit.edu	37	chr19	53384267	53384267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctgatgttctgcaagaCgtgaatcactccggaaagcc	9	12	3	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:53384267C>T	uc002qag.2	-	4	1303	c.1112G>A	c.(1111-1113)CGT>CAT	p.R371H	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.R317H|ZNF320_uc002qai.2_Missense_Mutation_p.R371H	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	371	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		TTCTGCAAGACGTGAATCACT	0.413													T	53384267	C	T	53384267	3	4	80	1	0	0	0	0	1	0	0	0	17836	536	19	1	421	1	ZNF320	19	53384267	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1866142	53384267	5744716	1067	55009											
ZNF665	79788	broad.mit.edu	37	chr19	53668313	53668313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctccagaatgaattcccCgatgacttgcaaggtgtgaa	9	10	1	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:53668313C>T	uc010eqm.1	-	4	1530	c.1430G>A	c.(1429-1431)CGG>CAG	p.R477Q		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	412	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		ATGAATTCCCCGATGACTTGC	0.423													T	53668313	C	T	53668313	3	4	80	1	0	0	0	0	1	0	0	0	18070	652	23	1	610	1	ZNF665	19	53668313	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	284046	53668313	5460670	1068	55010											
ZNF665	79788	broad.mit.edu	37	chr19	53669274	53669274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcataaattttcccttcatGttgaaattgctgcagttcag	6	8	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:53669274G>A	uc010eqm.1	-	4	569	c.469C>T	c.(469-471)CAT>TAT	p.H157Y		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		TTCCCTTCATGTTGAAATTGC	0.383													A	53669274	G	A	53669274	3	1	80	1	0	0	0	0	1	0	0	0	18070	1377	48	4	1571	4	ZNF665	19	53669274	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	961	53669274	5459709	1069	55011											
PRKCG	5582	broad.mit.edu	37	chr19	54401692	54401692	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttttggaactgtgcgcatAggtgatgctggccgagcgca	14	10	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:54401692A>G	uc002qcq.1	+	11	1375	c.1093_splice	c.e11-2	p.V365_splice	PRKCG_uc010yef.1_Splice_Site|PRKCG_uc010yeg.1_Splice_Site_p.V365_splice|PRKCG_uc010yeh.1_Splice_Site_p.V252_splice	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma						activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CTGTGCGCATAGGTGATGCTG	0.592													G	54401692	A	G	54401692	5	3	80	1	0	0	0	0	0	0	1	0	12512	434	15	3	1133	3	PRKCG	19	54401692	Splice_Site	SNP	A	TCGA-BR-8368-01A-11D-2340-08	732418	54401692	4727291	1070	55012											
LAIR1	3903	broad.mit.edu	37	chr19	54866912	54866912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctgcatacgtgatggactCggccatgggctttgtggact	15	9	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:54866912C>T	uc002qfk.1	-	10	1139	c.829G>A	c.(829-831)GAG>AAG	p.E277K	LAIR1_uc002qfl.1_Missense_Mutation_p.E260K|LAIR1_uc002qfm.1_Missense_Mutation_p.E276K|LAIR1_uc002qfn.1_Missense_Mutation_p.E259K|LAIR1_uc010yex.1_Missense_Mutation_p.E270K|LAIR1_uc002qfo.2_Missense_Mutation_p.E259K	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like	277	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding|receptor activity			ovary(4)	4	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GTGATGGACTCGGCCATGGGC	0.602													T	54866912	C	T	54866912	3	4	80	1	0	0	0	0	1	0	0	0	8602	893	31	1	38	1	LAIR1	19	54866912	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	465220	54866912	4262071	1071	55013											
NLRP7	199713	broad.mit.edu	37	chr19	55450565	55450565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgatgtccggtgacatcCggcagccaaaagtggcctcc	12	12	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:55450565C>T	uc002qih.3	-	4	1698	c.1622G>A	c.(1621-1623)CGG>CAG	p.R541Q	NLRP7_uc002qig.3_Missense_Mutation_p.R541Q|NLRP7_uc002qii.3_Missense_Mutation_p.R541Q|NLRP7_uc010esk.2_Missense_Mutation_p.R541Q|NLRP7_uc010esl.2_Missense_Mutation_p.R569Q	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	541							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		CGGTGACATCCGGCAGCCAAA	0.512													T	55450565	C	T	55450565	3	4	80	1	0	0	0	0	1	0	0	0	10482	652	23	1	1523	1	NLRP7	19	55450565	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	583653	55450565	3678418	1072	55014											
EPS8L1	54869	broad.mit.edu	37	chr19	55594834	55594834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactgacccgcagagccgcGcctgggaggacccagttgag	14	14	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:55594834G>A	uc002qis.3	+	13	1407	c.1303G>A	c.(1303-1305)GCC>ACC	p.A435T	EPS8L1_uc010ess.1_Missense_Mutation_p.A417T|EPS8L1_uc010est.1_Missense_Mutation_p.A435T|EPS8L1_uc010yfr.1_Missense_Mutation_p.A371T|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Missense_Mutation_p.A308T|EPS8L1_uc002qiv.2_Missense_Mutation_p.A81T|EPS8L1_uc002qiw.2_Missense_Mutation_p.A182T	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	epidermal growth factor receptor pathway	435						cytoplasm					0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GCAGAGCCGCGCCTGGGAGGA	0.706													A	55594834	G	A	55594834	3	1	80	1	0	0	0	0	1	0	0	0	5195	1087	38	1	1401	1	EPS8L1	19	55594834	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	144269	55594834	3534149	1073	55015											
PTPRH	5794	broad.mit.edu	37	chr19	55715343	55715343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtgggtctgtgccatcGgggacctcccagctcaggga	14	12	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:55715343G>A	uc002qjq.2	-	5	766	c.693C>T	c.(691-693)CCC>CCT	p.P231P	PTPRH_uc010esv.2_Intron|PTPRH_uc002qjs.2_Silent_p.P238P	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	231	Extracellular (Potential).|Fibronectin type-III 3.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTGTGCCATCGGGGACCTCCC	0.542													A	55715343	G	A	55715343	2	1	80	1	0	0	0	0	0	0	0	1	12803	1103	39	1		1	PTPRH	19	55715343	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	120509	55715343	3413640	1074	55016											
CCDC106	29903	broad.mit.edu	37	chr19	56163869	56163869	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaagctcaagagcatgtcGcgggccttcgagcaccaccg	12	14	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:56163869G>A	uc002qlr.2	+	6	1335	c.600G>A	c.(598-600)TCG>TCA	p.S200S	CCDC106_uc002qls.2_Silent_p.S200S|U2AF2_uc002qlt.2_5'Flank|U2AF2_uc002qlu.2_5'Flank	NM_013301	NP_037433	Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	200						nucleus					0		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AGAGCATGTCGCGGGCCTTCG	0.657													A	56163869	G	A	56163869	2	1	80	1	0	0	0	0	0	0	0	1	2741	1074	38	1		1	CCDC106	19	56163869	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	448526	56163869	2965114	1075	55017											
U2AF2	11338	broad.mit.edu	37	chr19	56172557	56172557	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccctttggcatcactgaggTactgccctcccctgccccct	7	20	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:56172557T>C	uc002qlu.2	+	5	1541	c.486_splice	c.e5+2	p.E162_splice	U2AF2_uc002qlt.2_Splice_Site_p.E162_splice	NM_007279	NP_009210	P26368	U2AF2_HUMAN	U2 (RNU2) small nuclear RNA auxiliary factor 2						mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		ATCACTGAGGTActgccctcc	0.403													C	56172557	T	C	56172557	5	2	80	1	0	0	0	0	0	0	1	0	16820	1652	57	3	506	3	U2AF2	19	56172557	Splice_Site	SNP	T	TCGA-BR-8368-01A-11D-2340-08	8688	56172557	2956426	1076	55018											
ZNF667	63934	broad.mit.edu	37	chr19	56952725	56952725	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctctccagtatgacttcTttcatgtagaataagagatg	7	7	3	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:56952725T>G	uc002qnd.2	-	5	1801	c.1639A>C	c.(1639-1641)AGA>CGA	p.R547R	ZNF667_uc010etl.2_Silent_p.R329R|ZNF667_uc002qne.2_Silent_p.R547R|ZNF667_uc010etm.2_Silent_p.R490R	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	547	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GTATGACTTCTTTCATGTAGA	0.423													G	56952725	T	G	56952725	2	3	80	1	0	0	0	0	0	0	0	1	18071	1617	56	5		5	ZNF667	19	56952725	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	780168	56952725	2176258	1077	55019											
ZNF460	10794	broad.mit.edu	37	chr19	57803352	57803352	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctatgaatgcgtggagtgCgggaaggccttcaaccgcag	14	11	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:57803352C>T	uc002qog.2	+	3	1765	c.1443C>T	c.(1441-1443)TGC>TGT	p.C481C	ZNF460_uc010ygv.1_Silent_p.C440C	NM_006635	NP_006626	Q14592	ZN460_HUMAN	zinc finger protein 460	481	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCGTGGAGTGCGGGAAGGCCT	0.532													T	57803352	C	T	57803352	2	4	80	1	0	0	0	0	0	0	0	1	17921	776	27	1		1	ZNF460	19	57803352	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	850627	57803352	1325631	1078	55020											
ZNF17	7565	broad.mit.edu	37	chr19	57932545	57932545	+	Frame_Shift_Del	DEL	T	T	-													gtgcactgagtgtgggagagTttttagccaaaattcccacc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:57932545delT	uc002qoo.1	+	3	1916	c.1685delT	c.(1684-1686)GTTfs	p.V562fs	ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Frame_Shift_Del_p.V564fs	NM_006959	NP_008890	P17021	ZNF17_HUMAN	zinc finger protein 17	562	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		TGTGGGAGAGTTTTTAGCCAA	0.403													-	57932545	T	-	57932545	7	5	80	1	0	1	0	1	0	0	0	0	17740	1725	60	0	1695	0	ZNF17	19	57932545	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	129193	57932545	1196438	1079	55021											
ZNF549	256051	broad.mit.edu	37	chr19	58049657	58049657	+	Frame_Shift_Del	DEL	A	A	-													gtgggaaggccttcattcacAaaaaaagacttcttgagcac							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:58049657delA	uc002qpb.1	+	4	1534	c.1285delA	c.(1285-1287)AAAfs	p.K429fs	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Frame_Shift_Del_p.K416fs	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	429	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTCATTCACAAAAAAAGACT	0.418													-	58049657	A	-	58049657	7	5	80	1	0	1	0	1	0	0	0	0	17978	131	5	0	1256	0	ZNF549	19	58049657	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	117112	58049657	1079326	1080	55022											
ZNF324B	388569	broad.mit.edu	37	chr19	58967034	58967034	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcggtggccaggagccctcGacctgggacgagctgggcga	17	13	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:58967034G>A	uc002qsv.1	+	4	830	c.723G>A	c.(721-723)TCG>TCA	p.S241S	ZNF324B_uc002qsu.1_Silent_p.S231S|ZNF324B_uc010euq.1_Silent_p.S241S	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGGAGCCCTCGACCTGGGACG	0.637													A	58967034	G	A	58967034	2	1	80	1	0	0	0	0	0	0	0	1	17842	1045	37	1		1	ZNF324B	19	58967034	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	917377	58967034	161949	1081	55023											
ZNF446	55663	broad.mit.edu	37	chr19	58988901	58988901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctagtcgaaggactgcagCatgaccctgggcaactgttg	12	12	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:58988901C>T	uc002qsz.2	+	2	433	c.316C>T	c.(316-318)CAT>TAT	p.H106Y	ZNF446_uc002qta.2_Missense_Mutation_p.H106Y|ZNF446_uc010eur.2_Missense_Mutation_p.H106Y	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	106	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGGACTGCAGCATGACCCTGG	0.632													T	58988901	C	T	58988901	3	4	80	1	0	0	0	0	1	0	0	0	17916	710	25	2	318	2	ZNF446	19	58988901	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	21867	58988901	140082	1082	55024											
DEFB126	81623	broad.mit.edu	37	chr20	126054	126054	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctatataattcctttattcAggtaattggtatgtgaaaaa	6	4	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:126054A>G	uc002wcx.2	+	2	77	c.59_splice	c.e2-2	p.G20_splice		NM_030931	NP_112193	Q9BYW3	DB126_HUMAN	defensin, beta 126 preproprotein						defense response to bacterium	extracellular region					0		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TCCTTTATTCAGGTAATTGGT	0.348													G	126054	A	G	126054	5	3	80	1	0	0	0	0	0	0	1	0	4412	202	7	3	63	3	DEFB126	20	126054	Splice_Site	SNP	A	TCGA-BR-8368-01A-11D-2340-08		126054	62899466	1083	55025											
LRRN4	164312	broad.mit.edu	37	chr20	6022103	6022103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcacaccagtggaccagCgccgacgtgtccgtggtctc	15	14	1	0	rs149872329	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:6022103C>T	uc002wmo.2	-	5	2012	c.1788G>A	c.(1786-1788)GCG>GCA	p.A596A		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	596	Extracellular (Potential).|Fibronectin type-III.					integral to membrane				skin(3)	3						AGTGGACCAGCGCCGACGTGT	0.697													T	6022103	C	T	6022103	2	4	80	1	0	0	0	0	0	0	0	1	9037	755	27	1		1	LRRN4	20	6022103	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	5896049	6022103	57003417	1084	55026											
FERMT1	55612	broad.mit.edu	37	chr20	6075585	6075585	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccccataaaagtttacttaCctaaataatttgagattatc	3	8	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:6075585C>G	uc002wmr.2	-	9	1928	c.1139_splice	c.e9+1	p.R380_splice	FERMT1_uc002wmq.2_5'Flank|FERMT1_uc010gbt.2_Splice_Site_p.R123_splice|FERMT1_uc002wms.2_Splice_Site_p.R380_splice	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	kindlin-1						cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			ovary(1)|pancreas(1)|skin(1)	3						AGTTTACTTACCTAAATAATT	0.289													G	6075585	C	G	6075585	5	3	80	1	0	0	0	0	0	0	1	0	5817	521	18	5	921	5	FERMT1	20	6075585	Splice_Site	SNP	C	TCGA-BR-8368-01A-11D-2340-08	53482	6075585	56949935	1085	55027											
PAK7	57144	broad.mit.edu	37	chr20	9546559	9546559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcattgaaaagcagttctCgtctctgttgcttccggagg	10	11	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:9546559C>T	uc002wnl.2	-	6	2008	c.1463G>A	c.(1462-1464)CGA>CAA	p.R488Q	PAK7_uc002wnk.2_Missense_Mutation_p.R488Q|PAK7_uc002wnj.2_Missense_Mutation_p.R488Q|PAK7_uc010gby.1_Missense_Mutation_p.R488Q	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	488	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)			AAGCAGTTCTCGTCTCTGTTG	0.433													T	9546559	C	T	9546559	3	4	80	1	0	0	0	0	1	0	0	0	11405	884	31	1	720	1	PAK7	20	9546559	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3470974	9546559	53478961	1086	55028											
OTOR	56914	broad.mit.edu	37	chr20	16730619	16730619	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacttggtcaaggaacagcgTgtgtaccaggaagctaccaa	11	9	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:16730619T>G	uc002wpj.2	+	3	371	c.327T>G	c.(325-327)CGT>CGG	p.R109R	OTOR_uc002wpk.2_RNA	NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	otoraplin precursor	109	SH3.				sensory perception of sound	extracellular region				ovary(1)|central_nervous_system(1)	2						AGGAACAGCGTGTGTACCAGG	0.483													G	16730619	T	G	16730619	2	3	80	1	0	0	0	0	0	0	0	1	11308	1683	59	5		5	OTOR	20	16730619	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	7184060	16730619	46294901	1087	55029											
SLC24A3	57419	broad.mit.edu	37	chr20	19674007	19674007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctgggagaaatggttcAtggtgacgtttgcttcctcc	13	10	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:19674007A>G	uc002wrl.2	+	13	1626	c.1429A>G	c.(1429-1431)ATG>GTG	p.M477V		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	477	Cytoplasmic (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						GAAATGGTTCATGGTGACGTT	0.517													G	19674007	A	G	19674007	3	3	80	1	0	0	0	0	1	0	0	0	14467	217	8	3	1479	3	SLC24A3	20	19674007	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	2943388	19674007	43351513	1088	55030											
PLK1S1	55857	broad.mit.edu	37	chr20	21143725	21143725	+	Frame_Shift_Del	DEL	A	A	-													aagagttgccctatccactgAaaaaaattgtattttgcaaa							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:21143724_21143724GA>G	uc002wsb.3	+	5	1409	c.1276_1276GA>G	c.(1276-1278)gaafs	p.E426fs	PLK1S1_uc010zsh.2_Frame_Shift_Del_p.E323fs|PLK1S1_uc010zsi.2_Frame_Shift_Del_p.E293fs|PLK1S1_uc010zsj.2_Non-coding_Transcript|BC042893_uc002wsc.3_Intron|PLK1S1_uc002wsd.3_Non-coding_Transcript	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA.	426					spindle organization	centrosome	protein kinase binding										CCTATCCACTGAAAAAAATTG	0.408													-	21143725	A	-	21143725	7	5	80	1	0	1	0	1	0	0	0	0	12095	246	9	0	1299	0	PLK1S1	20	21143725	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	1469718	21143725	41881795	1089	55031											
NXT1	29107	broad.mit.edu	37	chr20	23334925	23334926	+	Frame_Shift_Ins	INS	-	-	A													ctgccagcctgttcatgatgINSaagccacaccaagccagacc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:23334925_23334926insA	uc002wsx.1	+	2	634_635	c.247_248insA	c.(247-249)GAAfs	p.E83fs		NM_013248	NP_037380	Q9UKK6	NXT1_HUMAN	NTF2-like export factor 1	83	NTF2.					cytoplasm|nuclear pore				ovary(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGTTCATGATGAAGCCACACCA	0.48													A	23334926	-	A	23334925	7	5	80	1	0	1	1	0	0	0	0	0	10794	1291	45	0	249	0	NXT1	20	23334925	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	2191200	23334925	39690595	1090	55032	232	2									
NXT1	29107	broad.mit.edu	37	chr20	23334926	23334927	+	Frame_Shift_Ins	INS	-	-	A													tgccagcctgttcatgatgaINSagccacaccaagccagacca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:23334925_23334926G>GA	uc021wbj.1	+	0	247_248	c.247_248G>GA	c.(247-249)gaafs	p.E83fs	NXT1_uc002wsx.1_Frame_Shift_Ins_p.E83fs	NM_013248	NP_037380	Q9UKK6	NXT1_HUMAN	Homo sapiens NTF2-like export factor 1 (NXT1), mRNA.	83	NTF2.					cytoplasm|nuclear pore				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGTTCATGATGAAGCCACACCA	0.48													A	23334927	-	A	23334926	7	5	80	1	0	1	1	0	0	0	0	0	10794	246	9	0	250	0	NXT1	20	23334926	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	1	23334926	39690594	1091	55033	232	2									
GZF1	64412	broad.mit.edu	37	chr20	23346365	23346366	+	Missense_Mutation	DNP	GC	GC	AT													ccaggttctcgcagccgtccGcgctcaagacgcacatgagg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:23346365_23346366GC>AT	uc010gdb.2	+	3	1519_1520	c.1345_1346GC>AT	c.(1345-1347)GCG>ATG	p.A449M	GZF1_uc002wsy.2_Missense_Mutation_p.A449M|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Missense_Mutation_p.A449M	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	449	C2H2-type 5.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GCAGCCGTCCGCGCTCAAGACG	0.663													AT	23346366	GC	AT	23346365	3	1	80	1	0	0	0	0	1	0	0	0	6914	1087	38	1	1347	1	GZF1	20	23346365	Missense_Mutation	DNP	GC	TCGA-BR-8368-01A-11D-2340-08	11439	23346365	39679155	1092	55034											
ZNF337	26152	broad.mit.edu	37	chr20	25655896	25655896	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctcctttgagtgtatccgCcagtggtgtctggtgagact	12	9	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:25655896C>A	uc002wva.2	-	4	2550	c.2028G>T	c.(2026-2028)TGG>TGT	p.W676C	uc002wuz.2_RNA|ZNF337_uc010ztg.1_Missense_Mutation_p.W644C|ZNF337_uc002wvb.2_Missense_Mutation_p.W676C|ZNF337_uc002wvc.2_Missense_Mutation_p.W676C	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	676	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGTGTATCCGCCAGTGGTGTC	0.512													A	25655896	C	A	25655896	3	1	80	1	0	0	0	0	1	0	0	0	17850	740	26	5	231	5	ZNF337	20	25655896	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2309531	25655896	37369624	1093	55035											
CPNE1	8904	broad.mit.edu	37	chr20	34218844	34218844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcatagtcctgaaccacgCtgcccacactccacagtgcc	7	17	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:34218844C>T	uc002xdf.2	-	13	1337	c.974G>A	c.(973-975)AGC>AAC	p.S325N	CPNE1_uc002xdc.2_5'UTR|CPNE1_uc010zvj.1_Missense_Mutation_p.S330N|CPNE1_uc002xde.2_Missense_Mutation_p.S301N|CPNE1_uc002xdg.2_Missense_Mutation_p.S325N|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.S325N|CPNE1_uc002xdi.2_Missense_Mutation_p.S325N|CPNE1_uc002xdj.2_Missense_Mutation_p.S325N|CPNE1_uc002xdk.2_Missense_Mutation_p.S325N|CPNE1_uc002xdl.2_Missense_Mutation_p.S325N|CPNE1_uc002xdm.2_Missense_Mutation_p.S325N|CPNE1_uc010gfk.1_3'UTR	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	325	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CTGAACCACGCTGCCCACACT	0.562													T	34218844	C	T	34218844	3	4	80	1	0	0	0	0	1	0	0	0	3811	797	28	2	663	2	CPNE1	20	34218844	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	8562948	34218844	28806676	1094	55036											
DLGAP4	22839	broad.mit.edu	37	chr20	35064650	35064650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggcgacgaggacagcgacGagtccggcggcagccccaag	17	13	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:35064650G>A	uc002xff.2	+	4	1573	c.1138G>A	c.(1138-1140)GAG>AAG	p.E380K	DLGAP4_uc010zvp.1_Missense_Mutation_p.E380K	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	380					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GGACAGCGACGAGTCCGGCGG	0.721													A	35064650	G	A	35064650	3	1	80	1	0	0	0	0	1	0	0	0	4562	1059	37	1	1144	1	DLGAP4	20	35064650	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	845806	35064650	27960870	1095	55037											
SAMHD1	25939	broad.mit.edu	37	chr20	35521429	35521429	+	Frame_Shift_Del	DEL	T	T	-													aagtactgtcgttccattccTttttttgaggtgttatgagt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:35521428_35521428CT>C	uc002xgh.2	-	15	1988	c.1788_1788AG>G	c.(1786-1788)aagfs	p.K596fs	C20orf118_uc002xgg.1_3'UTR|SAMHD1_uc010gft.2_Non-coding_Transcript	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	596					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				CGTTCCATTCCTTTTTTTGAG	0.418													-	35521429	T	-	35521429	7	5	80	1	0	1	0	1	0	0	0	0	13828	1609	56	0	97	0	SAMHD1	20	35521429	Frame_Shift_Del	DEL	T	TCGA-BR-8368-01A-11D-2340-08	456779	35521429	27504091	1096	55038											
ACTR5	79913	broad.mit.edu	37	chr20	37396225	37396225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttggagatgagacccttcCggtcttcttttcaggtactg	11	9	3	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:37396225C>T	uc002xjd.2	+	8	1577	c.1552C>T	c.(1552-1554)CGG>TGG	p.R518W		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog	518					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding				0		Myeloproliferative disorder(115;0.00878)				GAGACCCTTCCGGTCTTCTTT	0.383													T	37396225	C	T	37396225	3	4	80	1	0	0	0	0	1	0	0	0	215	643	23	1	1582	1	ACTR5	20	37396225	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1874796	37396225	25629295	1097	55039											
LPIN3	64900	broad.mit.edu	37	chr20	39976275	39976275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttctttgttcaggagctGgagagcgatgatgtgagtct	14	7	3	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:39976275G>A	uc002xjx.2	+	3	367	c.276G>A	c.(274-276)CTG>CTA	p.L92L	LPIN3_uc010ggh.2_Silent_p.L92L|LPIN3_uc010zwf.1_RNA	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	lipin 3	92	N-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.000739)				TTCAGGAGCTGGAGAGCGATG	0.577													A	39976275	G	A	39976275	2	1	80	1	0	0	0	0	0	0	0	1	8920	1335	47	4		4	LPIN3	20	39976275	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2580050	39976275	23049245	1098	55040											
KCNK15	60598	broad.mit.edu	37	chr20	43379180	43379180	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctctacatcctcctggggCtcacggtcattggcgccttc	9	16	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:43379180C>A	uc002xmr.2	+	2	758	c.694C>A	c.(694-696)CTC>ATC	p.L232I		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	potassium family, subfamily K, member 15	232	Helical; (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		Myeloproliferative disorder(115;0.0122)				CCTCCTGGGGCTCACGGTCAT	0.642													A	43379180	C	A	43379180	3	1	80	1	0	0	0	0	1	0	0	0	8062	797	28	5	700	5	KCNK15	20	43379180	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3402905	43379180	19646340	1099	55041											
KCNS1	3787	broad.mit.edu	37	chr20	43723770	43723770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggatgccccctaggatgCagcctgaggctgccagcttg	13	14	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:43723770C>T	uc002xnc.2	-	5	1719	c.1322G>A	c.(1321-1323)TGC>TAC	p.C441Y	KCNS1_uc002xnd.2_Missense_Mutation_p.C441Y	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	441	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)				CCCTAGGATGCAGCCTGAGGC	0.622													T	43723770	C	T	43723770	3	4	80	1	0	0	0	0	1	0	0	0	8088	710	25	2	262	2	KCNS1	20	43723770	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	344590	43723770	19301750	1100	55042											
C20orf165	128497	broad.mit.edu	37	chr20	44515176	44515176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacaagcaggagccaggagGctggccccttttagatctca	11	12	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:44515176G>A	uc002xqf.2	-	2	673	c.664C>T	c.(664-666)CCT>TCT	p.P222S		NM_080608	NP_542175	Q9BR10	CT165_HUMAN	chromosome 20 open reading frame 165	222						integral to membrane					0		Myeloproliferative disorder(115;0.0122)				GAGCCAGGAGGCTGGCCCCTT	0.592													A	44515176	G	A	44515176	3	1	80	1	0	0	0	0	1	0	0	0	2094	1203	42	2	23	2	C20orf165	20	44515176	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	791406	44515176	18510344	1101	55043											
PCIF1	63935	broad.mit.edu	37	chr20	44569534	44569534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctgaagatgtggggtacGtcccctgaagataaacagca	12	9	0	4	rs142777416	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:44569534G>A	uc002xqs.2	+	6	788	c.474G>A	c.(472-474)ACG>ACA	p.T158T		NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	158						nucleus				skin(1)	1						TGTGGGGTACGTCCCCTGAAG	0.572													A	44569534	G	A	44569534	2	1	80	1	0	0	0	0	0	0	0	1	11580	1132	40	1		1	PCIF1	20	44569534	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	54358	44569534	18455986	1102	55044											
NCOA5	57727	broad.mit.edu	37	chr20	44691344	44691344	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgcagagctgctattggcCgtcactgtgccactattgaa	11	10	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:44691344C>A	uc002xrd.2	-	7	1863	c.1335G>T	c.(1333-1335)ACG>ACT	p.T445T	NCOA5_uc002xrc.2_3'UTR|NCOA5_uc002xre.2_Silent_p.T445T	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)				TGCTATTGGCCGTCACTGTGC	0.557													A	44691344	C	A	44691344	2	1	80	1	0	0	0	0	0	0	0	1	10232	639	23	5		5	NCOA5	20	44691344	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	121810	44691344	18334176	1103	55045											
NCOA3	8202	broad.mit.edu	37	chr20	46265284	46265284	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtataacttcttgtggggaCggaaatgttgtcaagcagga	13	5	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:46265284C>T	uc002xtk.2	+	12	2359	c.2154C>T	c.(2152-2154)GAC>GAT	p.D718D	NCOA3_uc010ght.1_Silent_p.D728D|NCOA3_uc002xtl.2_Silent_p.D718D|NCOA3_uc002xtm.2_Silent_p.D718D|NCOA3_uc002xtn.2_Silent_p.D718D|NCOA3_uc010zyc.1_Silent_p.D513D	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	718					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						CTTGTGGGGACGGAAATGTTG	0.473													T	46265284	C	T	46265284	2	4	80	1	0	0	0	0	0	0	0	1	10230	535	19	1		1	NCOA3	20	46265284	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1573940	46265284	16760236	1104	55046											
ZNFX1	57169	broad.mit.edu	37	chr20	47872465	47872466	+	Frame_Shift_Ins	INS	-	-	T													cactctttttttcattttctINSttttctggttgcgctgggtc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:47872464_47872465C>CT	uc002xui.3	-	8	2931_2932	c.2684_2685G>AG	c.(2683-2685)aagfs	p.K895fs		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	895							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTTTCATTTTCTTTTTCTGGTT	0.52													T	47872466	-	T	47872465	7	5	80	1	0	1	1	0	0	0	0	0	18202	1609	56	0	3096	0	ZNFX1	20	47872465	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	1607181	47872465	15153055	1105	55047											
MOCS3	27304	broad.mit.edu	37	chr20	49576279	49576279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctcgactgtgcagcttgCggggaacggcccactgtgac	15	12	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:49576279C>T	uc002xvy.1	+	1	917	c.900C>T	c.(898-900)TGC>TGT	p.C300C	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	300		Zinc (By similarity).			enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			skin(2)|ovary(1)	3						GTGCAGCTTGCGGGGAACGGC	0.592													T	49576279	C	T	49576279	2	4	80	1	0	0	0	0	0	0	0	1	9692	776	27	1		1	MOCS3	20	49576279	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1703814	49576279	13449241	1106	55048											
TSHZ2	128553	broad.mit.edu	37	chr20	51870903	51870903	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaaaacattaccaaaaAgtgcctttgaaggagccagt	7	8	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:51870903A>C	uc002xwo.2	+	2	1862	c.906A>C	c.(904-906)AAA>AAC	p.K302N		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	302					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			ATTACCAAAAAGTGCCTTTGA	0.448													C	51870903	A	C	51870903	3	2	80	1	0	0	0	0	1	0	0	0	16621	69	3	5	912	5	TSHZ2	20	51870903	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	2294624	51870903	11154617	1107	55049											
MC3R	4159	broad.mit.edu	37	chr20	54824313	54824313	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctgcaacctcctggccatCgccgtcgacaggtacgtcac	9	16	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:54824313C>T	uc002xxb.2	+	1	526	c.414C>T	c.(412-414)ATC>ATT	p.I138I		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	175	Helical; Name=3; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)|breast(2)	4			Colorectal(105;0.202)			TCCTGGCCATCGCCGTCGACA	0.567													T	54824313	C	T	54824313	2	4	80	1	0	0	0	0	0	0	0	1	9365	874	31	1		1	MC3R	20	54824313	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2953410	54824313	8201207	1108	55050											
GNAS	2778	broad.mit.edu	37	chr20	57415590	57415590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgagaccgagcctgaagaCgatcgcggcccggtggtgcc	15	15	0	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:57415590C>T	uc002xzt.2	+	1	796	c.429C>T	c.(427-429)GAC>GAT	p.D143D	GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	GNAS complex locus NESP55	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGCCTGAAGACGATCGCGGCC	0.662			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			T	57415590	C	T	57415590	2	4	80	1	0	0	0	0	0	0	0	1	6510	535	19	1		1	GNAS	20	57415590	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2591277	57415590	5609930	1109	55051											
CDH4	1002	broad.mit.edu	37	chr20	60508125	60508125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcattgaccccgaggaCgacgtccgcgacaacatcct	9	16	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:60508125C>T	uc002ybn.1	+	14	2336	c.2322C>T	c.(2320-2322)GAC>GAT	p.D774D	CDH4_uc002ybp.1_Silent_p.D700D	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	774	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACCCCGAGGACGACGTCCGCG	0.662													T	60508125	C	T	60508125	2	4	80	1	0	0	0	0	0	0	0	1	3112	535	19	1		1	CDH4	20	60508125	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3092535	60508125	2517395	1110	55052											
BIRC7	79444	broad.mit.edu	37	chr20	61870935	61870935	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagagcccccgtccgcagccGcgtgcgcaccttcctgtcct	10	20	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:61870935G>C	uc002yej.2	+	6	1048	c.875G>C	c.(874-876)CGC>CCC	p.R292P	BIRC7_uc010gkc.1_3'UTR|BIRC7_uc002yei.2_Missense_Mutation_p.R274P	NM_139317	NP_647478	Q96CA5	BIRC7_HUMAN	livin inhibitor of apoptosis isoform alpha	292					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3	all_cancers(38;2.72e-09)					GTCCGCAGCCGCGTGCGCACC	0.731													C	61870935	G	C	61870935	3	2	80	1	0	0	0	0	1	0	0	0	1439	1087	38	5	897	5	BIRC7	20	61870935	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1362810	61870935	1154585	1111	55053											
KCNQ2	3785	broad.mit.edu	37	chr20	62044868	62044868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagtactgctcgatgacGtccatcacgtcgtagggccg	13	12	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:62044868G>A	uc002yey.1	-	15	1875	c.1698C>T	c.(1696-1698)GAC>GAT	p.D566D	KCNQ2_uc002yez.1_Silent_p.D535D|KCNQ2_uc002yfa.1_Silent_p.D548D|KCNQ2_uc002yfb.1_Silent_p.D538D	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	566	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GCTCGATGACGTCCATCACGT	0.637													A	62044868	G	A	62044868	2	1	80	1	0	0	0	0	0	0	0	1	8083	1136	40	1		1	KCNQ2	20	62044868	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	173933	62044868	980652	1112	55054											
NCAM2	4685	broad.mit.edu	37	chr21	22838932	22838932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttttcttctagcaatgGttgttttgaacaacctggaa	8	6	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:22838932G>A	uc002yld.1	+	13	1909	c.1660G>A	c.(1660-1662)GTT>ATT	p.V554I	NCAM2_uc011acb.1_Missense_Mutation_p.V412I	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	554	Fibronectin type-III 1.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TCTAGCAATGGTTGTTTTGAA	0.274													A	22838932	G	A	22838932	3	1	80	1	0	0	0	0	1	0	0	0	10203	1261	44	4	1710	4	NCAM2	21	22838932	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08		22838932	25290963	1113	55055											
ADAMTS5	11096	broad.mit.edu	37	chr21	28315748	28315748	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggctgaagtgcatttggaCcagggcttagatgcatcaat	13	7	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:28315748C>T	uc002ymg.2	-	3	2085	c.1356G>A	c.(1354-1356)TGG>TGA	p.W452*		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	452	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						TGCATTTGGACCAGGGCTTAG	0.433													T	28315748	C	T	28315748	4	4	80	1	0	0	0	0	0	1	0	0	269	508	18	4	1460	4	ADAMTS5	21	28315748	Nonsense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	5476816	28315748	19814147	1114	55056											
ADAMTS5	11096	broad.mit.edu	37	chr21	28337871	28337871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccccggccatacaaccgCgccatggacgcgtcagccac	11	18	1	0	rs151274956	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:28337871C>T	uc002ymg.2	-	1	1569	c.840G>A	c.(838-840)GCG>GCA	p.A280A		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	280	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						CATACAACCGCGCCATGGACG	0.682													T	28337871	C	T	28337871	2	4	80	1	0	0	0	0	0	0	0	1	269	755	27	1		1	ADAMTS5	21	28337871	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	22123	28337871	19792024	1115	55057											
N6AMT1	29104	broad.mit.edu	37	chr21	30250634	30250634	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttgccaccagcccaagctgCctctattccgtgacttccta	6	16	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:30250634C>G	uc002ymo.1	-	5	444	c.418G>C	c.(418-420)GCA>CCA	p.A140P	N6AMT1_uc002ymp.1_Missense_Mutation_p.A112P|N6AMT1_uc002ymq.1_RNA	NM_013240	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1	140					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity				0						GCCCAAGCTGCCTCTATTCCG	0.383													G	30250634	C	G	30250634	3	3	80	1	0	0	0	0	1	0	0	0	10114	739	26	5	234	5	N6AMT1	21	30250634	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1912763	30250634	17879261	1116	55058											
OLIG2	10215	broad.mit.edu	37	chr21	34399327	34399327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcccgccggagctgagcGccgagctgcgcggcgctatg	16	15	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:34399327G>A	uc002yqx.1	+	2	315	c.157G>A	c.(157-159)GCC>ACC	p.A53T		NM_005806	NP_005797	Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	53						cytoplasm|nucleus|plasma membrane	DNA binding			central_nervous_system(2)	2						GGAGCTGAGCGCCGAGCTGCG	0.682			T	TRA@	T-ALL								A	34399327	G	A	34399327	3	1	80	1	0	0	0	0	1	0	0	0	10861	1087	38	1	159	1	OLIG2	21	34399327	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	4148693	34399327	13730568	1117	55059											
ITSN1	6453	broad.mit.edu	37	chr21	35147278	35147278	+	Frame_Shift_Del	DEL	A	A	-													ttcatttgttcaagaatgatAaaaagcatcaactagaaggg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:35147278delA	uc002yta.1	+	14	1730	c.1462delA	c.(1462-1464)AAAfs	p.K488fs	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Frame_Shift_Del_p.K488fs|ITSN1_uc010gmg.2_Frame_Shift_Del_p.K451fs|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Frame_Shift_Del_p.K488fs|ITSN1_uc010gmi.2_Frame_Shift_Del_p.K451fs|ITSN1_uc010gmj.2_Frame_Shift_Del_p.K372fs|ITSN1_uc002ysy.2_Frame_Shift_Del_p.K488fs|ITSN1_uc002ysx.2_Frame_Shift_Del_p.K451fs|ITSN1_uc002ytb.1_Frame_Shift_Del_p.K488fs|ITSN1_uc002ytc.1_Frame_Shift_Del_p.K488fs|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Frame_Shift_Del_p.K451fs|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Frame_Shift_Del_p.K488fs|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Frame_Shift_Del_p.K422fs	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	488	Potential.|KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						CAAGAATGATAAAAAGCATCA	0.313													-	35147278	A	-	35147278	7	5	80	1	0	1	0	1	0	0	0	0	7926	363	13	0	1512	0	ITSN1	21	35147278	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	747951	35147278	12982617	1118	55060											
ERG	2078	broad.mit.edu	37	chr21	39795450	39795450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgcccaccatcttcccGcctttggccacactgcattc	8	18	1	0	rs146525668		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:39795450G>A	uc010gnw.2	-	5	586	c.291C>T	c.(289-291)GGC>GGT	p.G97G	ERG_uc002yxa.2_Silent_p.G90G|ERG_uc011aek.1_5'UTR|ERG_uc010gnv.2_5'UTR|ERG_uc010gnx.2_Silent_p.G97G|ERG_uc011ael.1_Silent_p.G97G|ERG_uc002yxb.2_Silent_p.G97G|ERG_uc011aem.1_Silent_p.G90G|ERG_uc002yxc.3_Silent_p.G97G	NM_001136155	NP_001129627	P11308	ERG_HUMAN	ets-related isoform 4	97					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828		Prostate(19;3.6e-06)				CCATCTTCCCGCCTTTGGCCA	0.517													A	39795450	G	A	39795450	2	1	80	1	0	0	0	0	0	0	0	1	5222	1074	38	1		1	ERG	21	39795450	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	4648172	39795450	8334445	1119	55061											
BRWD1	54014	broad.mit.edu	37	chr21	40570896	40570897	+	Frame_Shift_Ins	INS	-	-	T													gagtcactcagaatcttggtINSttttttaaagaaactcgcat							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:40570895_40570896G>GT	uc002yxk.2	-	39	5741_5742	c.5446_5447C>AC	c.(5446-5448)accfs	p.T1816fs	BRWD1_uc010goc.1_Frame_Shift_Ins_p.T459fs|BRWD1_uc021wjf.1_Frame_Shift_Ins_p.T1816fs	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.T1816N(3)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CAGAATCTTGGTTTTTTTAAAG	0.386													T	40570897	-	T	40570896	7	5	80	1	0	1	1	0	0	0	0	0	1525	1725	60	0	1767	0	BRWD1	21	40570896	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	775446	40570896	7558999	1120	55062											
MX2	4600	broad.mit.edu	37	chr21	42771150	42771150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatgtttaatcaggacatcGaaaagttagtagaaggagaa	11	3	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:42771150G>A	uc002yzf.1	+	10	1404	c.1300G>A	c.(1300-1302)GAA>AAA	p.E434K	MX2_uc002yzg.1_Missense_Mutation_p.E157K|MX2_uc010gop.1_Intron	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	434					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCAGGACATCGAAAAGTTAGT	0.373													A	42771150	G	A	42771150	3	1	80	1	0	0	0	0	1	0	0	0	9998	1059	37	1	1334	1	MX2	21	42771150	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2200254	42771150	5358745	1121	55063											
ABCG1	9619	broad.mit.edu	37	chr21	43708071	43708071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggttcgggagggcatgtGtgactcagaccacaagagag	16	8	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:43708071G>A	uc002zaq.2	+	9	1152	c.1046G>A	c.(1045-1047)TGT>TAT	p.C349Y	ABCG1_uc002zan.2_Missense_Mutation_p.C351Y|ABCG1_uc002zam.2_Missense_Mutation_p.C327Y|ABCG1_uc002zao.2_Missense_Mutation_p.C346Y|ABCG1_uc002zap.2_Missense_Mutation_p.C349Y|ABCG1_uc002zar.2_Missense_Mutation_p.C360Y|ABCG1_uc011aev.1_Missense_Mutation_p.C360Y|ABCG1_uc010gpb.1_Translation_Start_Site	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	349	Cytoplasmic (Potential).				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			ovary(2)|central_nervous_system(1)	3					Adenosine triphosphate(DB00171)	GAGGGCATGTGTGACTCAGAC	0.572													A	43708071	G	A	43708071	3	1	80	1	0	0	0	0	1	0	0	0	68	1377	48	4	1248	4	ABCG1	21	43708071	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	936921	43708071	4421824	1122	55064											
LRRC3	81543	broad.mit.edu	37	chr21	45876981	45876981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccctgcactgcgagtgcGccctgcaggaggccctgtgg	14	16	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:45876981G>A	uc002zfa.2	+	2	747	c.454G>A	c.(454-456)GCC>ACC	p.A152T		NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	leucine-rich repeat-containing 3 precursor	152	LRR 4.					integral to membrane	protein binding				0		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CTGCGAGTGCGCCCTGCAGGA	0.632													A	45876981	G	A	45876981	3	1	80	1	0	0	0	0	1	0	0	0	8984	1087	38	1	456	1	LRRC3	21	45876981	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2168910	45876981	2252914	1123	55065											
C21orf29	54084	broad.mit.edu	37	chr21	45953801	45953801	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaccgtcagcaggtactcGttcctctgtggagagcgggc	13	13	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:45953801G>A	uc002zfe.1	-	3	375	c.309C>T	c.(307-309)AAC>AAT	p.N103N	C21orf29_uc010gpv.1_Silent_p.N35N	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	103	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity				0						GCAGGTACTCGTTCCTCTGTG	0.413													A	45953801	G	A	45953801	2	1	80	1	0	0	0	0	0	0	0	1	2124	1136	40	1		1	C21orf29	21	45953801	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	76820	45953801	2176094	1124	55066											
COL6A2	1292	broad.mit.edu	37	chr21	47546124	47546124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtcgctgagaagttcatcGatgacatggaggacgtcctc	13	9	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:47546124G>A	uc002zia.1	+	26	2477	c.2395G>A	c.(2395-2397)GAT>AAT	p.D799N	COL6A2_uc002zhy.1_Missense_Mutation_p.D799N|COL6A2_uc002zhz.1_Missense_Mutation_p.D799N|COL6A2_uc002zib.1_Missense_Mutation_p.D205N|COL6A2_uc002zic.1_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	799	VWFA 2.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GAAGTTCATCGATGACATGGA	0.642													A	47546124	G	A	47546124	3	1	80	1	0	0	0	0	1	0	0	0	3700	1058	37	1	2493	1	COL6A2	21	47546124	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1592323	47546124	583771	1125	55067											
MCM3AP	8888	broad.mit.edu	37	chr21	47662805	47662806	+	Frame_Shift_Ins	INS	-	-	A													attttttcaaatcgtttttaINSaaaaaatacacacatatctg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:47662804_47662805T>TA	uc002zir.1	-	24	5373_5374	c.5337_5338A>TA	c.(5335-5340)tttaaafs	p.F1779fs	MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Frame_Shift_Ins_p.F274fs|MCM3AP_uc002zip.1_Frame_Shift_Ins_p.F520fs|MCM3AP_uc002ziq.1_Frame_Shift_Ins_p.F706fs|MCM3AP-AS1_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1779					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.K1780fs*5(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AAATCGTTTTTAAAAAAATACA	0.436													A	47662806	-	A	47662805	7	5	80	1	0	1	1	0	0	0	0	0	9388	359	13	0	621	0	MCM3AP	21	47662805	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	116681	47662805	467090	1126	55068											
ARVCF	421	broad.mit.edu	37	chr22	19967640	19967640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatccactgagggcgagcgcCgcaccagccggtccaggctg	14	15	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:19967640C>T	uc002zqz.2	-	6	1293	c.1022G>A	c.(1021-1023)CGG>CAG	p.R341Q	ARVCF_uc002zqy.2_5'Flank|ARVCF_uc002zra.2_3'UTR	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	341					cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					GGGCGAGCGCCGCACCAGCCG	0.746													T	19967640	C	T	19967640	3	4	80	1	0	0	0	0	1	0	0	0	1003	652	23	1	1922	1	ARVCF	22	19967640	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08		19967640	31336926	1127	55069											
DGCR8	54487	broad.mit.edu	37	chr22	20073637	20073637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgcagaggtaatggacGttggctctggtggtgatgga	19	4	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:20073637G>A	uc002zri.2	+	2	501	c.151G>A	c.(151-153)GTT>ATT	p.V51I	DGCR8_uc010grz.2_Missense_Mutation_p.V51I|MIR1306_hsa-mir-1306|MI0006443_RNA|DGCR8_uc002zrj.2_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	51	Necessary for nuclear localization and retention.|Necessary for interaction with NCL.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					GGTAATGGACGTTGGCTCTGG	0.597													A	20073637	G	A	20073637	3	1	80	1	0	0	0	0	1	0	0	0	4464	1145	40	1	153	1	DGCR8	22	20073637	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	105997	20073637	31230929	1128	55070											
PPM1F	9647	broad.mit.edu	37	chr22	22277735	22277735	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaacttcctggtggggtacGacgtcaaagaagccatcaca	10	11	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:22277735G>A	uc002zvp.1	-	8	1209	c.1095C>T	c.(1093-1095)GTC>GTT	p.V365V	PPM1F_uc011aik.1_Silent_p.V261V	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	365					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GGTGGGGTACGACGTCAAAGA	0.672													A	22277735	G	A	22277735	2	1	80	1	0	0	0	0	0	0	0	1	12339	1045	37	1		1	PPM1F	22	22277735	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2204098	22277735	29026831	1129	55071											
ZNF280B	140883	broad.mit.edu	37	chr22	22842147	22842147	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggggagtgatggttcagagTcagatgtgctcacagttatg	15	5	3	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:22842147T>A	uc002zwc.1	-	4	2353	c.1577A>T	c.(1576-1578)GAC>GTC	p.D526V	LOC96610_uc011aim.1_Intron	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TGGTTCAGAGTCAGATGTGCT	0.378													A	22842147	T	A	22842147	3	1	80	1	0	0	0	0	1	0	0	0	17812	1667	58	5	58	5	ZNF280B	22	22842147	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	564412	22842147	28462419	1130	55072											
MMP11	4320	broad.mit.edu	37	chr22	24122768	24122768	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgcccccacccatctgtaGgtactggcatggggacgacc	11	17	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:24122768G>T	uc002zxx.2	+	4	505	c.483_splice	c.e4-1	p.R161_splice	MMP11_uc002zxy.2_Splice_Site|MMP11_uc002zxz.2_5'Flank	NM_005940	NP_005931	P24347	MMP11_HUMAN	matrix metalloproteinase 11 preproprotein						collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(2)|large_intestine(1)	3		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				CCCATCTGTAGGTACTGGCAT	0.642													T	24122768	G	T	24122768	5	4	80	1	0	0	0	0	0	0	1	0	9650	1014	35	5	496	5	MMP11	22	24122768	Splice_Site	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1280621	24122768	27181798	1131	55073											
SMARCB1	6598	broad.mit.edu	37	chr22	24176339	24176339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttccaggcggatgaggcGtcttgccaacacggccccgg	13	15	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:24176339G>A	uc002zyb.2	+	9	1337	c.1130G>A	c.(1129-1131)CGT>CAT	p.R377H	SMARCB1_uc002zya.2_Intron|SMARCB1_uc002zyc.2_Missense_Mutation_p.R368H|SMARCB1_uc002zyd.2_Missense_Mutation_p.R386H	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	377					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.R377H(4)|p.?(2)|p.R377fs*10(1)|p.L266_*386del(1)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CGGATGAGGCGTCTTGCCAAC	0.647			D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis				A	24176339	G	A	24176339	3	1	80	1	0	0	0	0	1	0	0	0	14774	1145	40	1	1164	1	SMARCB1	22	24176339	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	53571	24176339	27128227	1132	55074											
SUSD2	56241	broad.mit.edu	37	chr22	24584295	24584295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccgcaggaagggcaacaCgtgagaccccccagcccctc	12	18	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:24584295C>T	uc002zzn.1	+	14	2488	c.2444C>T	c.(2443-2445)ACG>ATG	p.T815M		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	815	Cytoplasmic (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						AAGGGCAACACGTGAGACCCC	0.657													T	24584295	C	T	24584295	3	4	80	1	0	0	0	0	1	0	0	0	15405	550	19	1	2498	1	SUSD2	22	24584295	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	407956	24584295	26720271	1133	55075											
CYTSA	23384	broad.mit.edu	37	chr22	24730508	24730508	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccaactcctacagtaaaaAccctcatcaagtcctttgac	4	14	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:24730508A>G	uc002zzw.2	+	9	2834	c.2527A>G	c.(2527-2529)ACC>GCC	p.T843A	CYTSA_uc002zzv.3_Missense_Mutation_p.T843A|CYTSA_uc011ajq.1_Missense_Mutation_p.T843A	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	843					cell cycle|cell division						0						TACAGTAAAAACCCTCATCAA	0.448													G	24730508	A	G	24730508	3	3	80	1	0	0	0	0	1	0	0	0	4209	43	2	3	2553	3	CYTSA	22	24730508	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	146213	24730508	26574058	1134	55076											
SGSM1	129049	broad.mit.edu	37	chr22	25308665	25308665	+	Frame_Shift_Del	DEL	C	C	-													aagaggatgaaccagaacttCccccacggaggcgccatgga							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:25308665delC	uc003abg.2	+	23	3196	c.3039delC	c.(3037-3039)TTCfs	p.F1013fs	SGSM1_uc003abh.2_Frame_Shift_Del_p.F952fs|SGSM1_uc010guu.1_Frame_Shift_Del_p.F958fs|SGSM1_uc003abj.2_Frame_Shift_Del_p.F897fs|SGSM1_uc003abi.1_Frame_Shift_Del_p.F933fs	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	1013	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						ACCAGAACTTCCCCCACGGAG	0.522													-	25308665	C	-	25308665	7	5	80	1	0	1	0	1	0	0	0	0	14222	854	30	0	3129	0	SGSM1	22	25308665	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	578157	25308665	25995901	1135	55077											
CCDC157	550631	broad.mit.edu	37	chr22	30762085	30762085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagacgtcttctcccgcgcCgggcctgtgcgcttcccctc	11	18	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:30762085C>T	uc011aku.1	+	3	756	c.96C>T	c.(94-96)GCC>GCT	p.A32A	CCDC157_uc011akv.1_Silent_p.A32A	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	coiled-coil domain containing 157	32										central_nervous_system(1)	1						TCTCCCGCGCCGGGCCTGTGC	0.657													T	30762085	C	T	30762085	2	4	80	1	0	0	0	0	0	0	0	1	2789	639	23	1		1	CCDC157	22	30762085	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	5453420	30762085	20542481	1136	55078											
SEC14L2	23541	broad.mit.edu	37	chr22	30812384	30812384	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccctcacctgcagtgatcCtggcatctgtaagtatctct	8	13	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:30812384C>A	uc003ahr.2	+	11	1246	c.1073C>A	c.(1072-1074)CCT>CAT	p.P358H	SEC14L2_uc003ahq.2_Missense_Mutation_p.P358H|SEC14L2_uc011akx.1_Missense_Mutation_p.P304H|SEC14L2_uc003ahs.2_Missense_Mutation_p.P284H|SEC14L2_uc011aky.1_Missense_Mutation_p.P275H|SEC14L2_uc003aht.2_RNA|SEC14L2_uc003ahu.3_Intron|SEC14L2_uc010gvv.2_RNA|SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Missense_Mutation_p.P51H|MTP18_uc003ahv.1_Missense_Mutation_p.P182H|MTP18_uc010gvy.1_Intron	NM_012429	NP_036561	O76054	S14L2_HUMAN	SEC14-like 2 isoform 1	358	GOLD.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding				0					Vitamin E(DB00163)	TGCAGTGATCCTGGCATCTGT	0.557													A	30812384	C	A	30812384	3	1	80	1	0	0	0	0	1	0	0	0	13982	681	24	5	1115	5	SEC14L2	22	30812384	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	50299	30812384	20492182	1137	55079											
PES1	23481	broad.mit.edu	37	chr22	30980667	30980667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagcacatggagagggcatCgtccaggtcccgcagggcat	15	11	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:30980667C>T	uc003aij.1	-	5	480	c.406G>A	c.(406-408)GAT>AAT	p.D136N	PES1_uc003aik.1_Missense_Mutation_p.D136N|PES1_uc003ail.1_Missense_Mutation_p.D136N|PES1_uc003aim.1_Missense_Mutation_p.D136N|PES1_uc003ain.1_5'UTR|PES1_uc003aio.1_5'UTR	NM_014303	NP_055118	O00541	PESC_HUMAN	pescadillo homolog 1, containing BRCT domain	136	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						GAGAGGGCATCGTCCAGGTCC	0.617													T	30980667	C	T	30980667	3	4	80	1	0	0	0	0	1	0	0	0	11733	884	31	1	1404	1	PES1	22	30980667	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	168283	30980667	20323899	1138	55080											
SLC35E4	339665	broad.mit.edu	37	chr22	31032910	31032910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgctgctgctgggccgccGccaccacccacttcagttgg	13	17	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:31032910G>A	uc003ais.1	+	1	1118	c.473G>A	c.(472-474)CGC>CAC	p.R158H	SLC35E4_uc003ait.2_Missense_Mutation_p.R146H	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	158	DUF6.|Leu-rich.					integral to membrane					0						CTGGGCCGCCGCCACCACCCA	0.682													A	31032910	G	A	31032910	3	1	80	1	0	0	0	0	1	0	0	0	14587	1087	38	1	475	1	SLC35E4	22	31032910	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	52243	31032910	20271656	1139	55081											
MYH9	4627	broad.mit.edu	37	chr22	36680233	36680233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagtttccggcgggaggCgttggcccgctgggcctcct	16	14	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:36680233C>T	uc003apg.2	-	40	5902	c.5671G>A	c.(5671-5673)GCC>ACC	p.A1891T		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1891	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CGGCGGGAGGCGTTGGCCCGC	0.657			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				T	36680233	C	T	36680233	3	4	80	1	0	0	0	0	1	0	0	0	10042	768	27	1	219	1	MYH9	22	36680233	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	5647323	36680233	14624333	1140	55082											
TRIOBP	11078	broad.mit.edu	37	chr22	38121789	38121790	+	Frame_Shift_Ins	INS	-	-	C													tgccccccgggcgtcctcgcINSccccccgccacacccaattt							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:38121788_38121789G>GC	uc003atr.3	+	6	3496_3497	c.3225_3226G>GC	c.(3223-3228)tcgcccfs	p.S1075fs	TRIOBP_uc003atu.3_Frame_Shift_Ins_p.S903fs|TRIOBP_uc003atq.1_Frame_Shift_Ins_p.S1075fs|TRIOBP_uc003ats.1_Frame_Shift_Ins_p.S903fs	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1075					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGGCGTCCTCGCCCCCCCGCCA	0.653													C	38121790	-	C	38121789	7	5	80	1	0	1	1	0	0	0	0	0	16550	739	26	0	3244	0	TRIOBP	22	38121789	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	1441556	38121789	13182777	1141	55083											
C22orf23	84645	broad.mit.edu	37	chr22	38340219	38340221	+	In_Frame_Del	DEL	CTT	CTT	-													ccttcctaagttcctcactcCttctgtggtcaatgtcttcc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:38340219_38340221delCTT	uc003auj.1	-	7	706_708	c.615_617delAAG	c.(613-618)AGAAGG>AGG	p.205_206RR>R	C22orf23_uc003auk.1_In_Frame_Del_p.205_206RR>R	NM_032561	NP_115950	Q9BZE7	EVG1_HUMAN	hypothetical protein LOC84645	205_206											0	Melanoma(58;0.045)					TTCCTCACTCCTTCTGTGGTCAA	0.552													-	38340221	CTT	-	38340219	7	5	80	1	0	1	0	1	0	0	0	0	2137	681	24	0	40	0	C22orf23	22	38340219	In_Frame_Del	DEL	CTT	TCGA-BR-8368-01A-11D-2340-08	218430	38340219	12964347	1142	55084											
CSNK1E	1454	broad.mit.edu	37	chr22	38698968	38698970	+	In_Frame_Del	DEL	GTT	GTT	-													agcagctccatgaccatcacGttgtagtcgccctcagctcc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:38698968_38698970delGTT	uc003avj.2	-	4	493_495	c.232_234delAAC	c.(232-234)AACdel	p.N78del	CSNK1E_uc003avk.2_In_Frame_Del_p.N78del|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_In_Frame_Del_p.N78del|CSNK1E_uc003avo.2_In_Frame_Del_p.N78del|CSNK1E_uc003avp.1_In_Frame_Del_p.N78del|CSNK1E_uc003avq.1_In_Frame_Del_p.N78del|LOC400927_uc010gxm.2_RNA	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	78	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)					TGACCATCACGTTGTAGTCGCCC	0.621													-	38698970	GTT	-	38698968	7	5	80	1	0	1	0	1	0	0	0	0	3953	1136	40	0	1044	0	CSNK1E	22	38698968	In_Frame_Del	DEL	GTT	TCGA-BR-8368-01A-11D-2340-08	358749	38698968	12605598	1143	55085											
DDX17	10521	broad.mit.edu	37	chr22	38895455	38895455	+	Frame_Shift_Del	DEL	C	C	-													cgggtttaggacaaacatctCcccccctcactgtaatctcc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:38895454_38895454TC>T	uc003avy.4	-	2	592	c.489_489GA>A	c.(487-489)ggafs	p.G163fs	DDX17_uc003avx.4_Frame_Shift_Del_p.G163fs|DDX17_uc011anu.2_Frame_Shift_Del_p.G76fs	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCA	0.383													-	38895455	C	-	38895455	7	5	80	1	0	1	0	1	0	0	0	0	4344	855	30	0	1751	0	DDX17	22	38895455	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	196487	38895455	12409111	1144	55086											
FAM83F	113828	broad.mit.edu	37	chr22	40417883	40417883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggcgcccaatggcatgGccagctctgtctccaccgag	12	16	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:40417883G>A	uc003ayk.1	+	4	1463	c.1369G>A	c.(1369-1371)GCC>ACC	p.A457T		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	457										breast(1)	1						CAATGGCATGGCCAGCTCTGT	0.652													A	40417883	G	A	40417883	3	1	80	1	0	0	0	0	1	0	0	0	5638	1203	42	2	1383	2	FAM83F	22	40417883	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1522428	40417883	10886683	1145	55087											
TNRC6B	23112	broad.mit.edu	37	chr22	40661353	40661353	+	Frame_Shift_Del	DEL	A	A	-													attcataacactgatggaccAaaaaatggaaacactaactc							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:40661353delA	uc011aor.1	+	5	1330	c.1119delA	c.(1117-1119)CCAfs	p.P373fs	TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Frame_Shift_Del_p.P373fs|TNRC6B_uc003ayo.2_Frame_Shift_Del_p.P177fs	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	373					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						CTGATGGACCAAAAAATGGAA	0.453													-	40661353	A	-	40661353	7	5	80	1	0	1	0	1	0	0	0	0	16338	117	5	0	1258	0	TNRC6B	22	40661353	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	243470	40661353	10643213	1146	55088											
ACO2	50	broad.mit.edu	37	chr22	41918966	41918966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggttccgagcagatccGcgccaccattgagcgggacg	13	14	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:41918966G>A	uc003bac.2	+	10	1293	c.1271G>A	c.(1270-1272)CGC>CAC	p.R424H	ACO2_uc003bad.2_Missense_Mutation_p.R449H	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	424					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(2)|ovary(1)|lung(1)	4						GAGCAGATCCGCGCCACCATT	0.622													A	41918966	G	A	41918966	3	1	80	1	0	0	0	0	1	0	0	0	147	1087	38	1	1309	1	ACO2	22	41918966	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1257613	41918966	9385600	1147	55089											
TCF20	6942	broad.mit.edu	37	chr22	42609415	42609415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggcctttgagtggctgCaggatcatcctcttgggagc	15	9	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:42609415C>T	uc003bcj.1	-	1	2031	c.1897G>A	c.(1897-1899)GCA>ACA	p.A633T	TCF20_uc003bck.1_Missense_Mutation_p.A633T|TCF20_uc003bnt.2_Missense_Mutation_p.A633T	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	633					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						TGAGTGGCTGCAGGATCATCC	0.542													T	42609415	C	T	42609415	3	4	80	1	0	0	0	0	1	0	0	0	15687	710	25	2	4023	2	TCF20	22	42609415	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	690449	42609415	8695151	1148	55090											
TCF20	6942	broad.mit.edu	37	chr22	42611137	42611137	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagctgctgctcctcgtcGtccaccaccactgccactgc	8	19	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:42611137G>A	uc003bcj.1	-	1	309	c.175C>T	c.(175-177)CGA>TGA	p.R59*	TCF20_uc003bck.1_Nonsense_Mutation_p.R59*|TCF20_uc003bnt.2_Nonsense_Mutation_p.R59*	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						gctcctcgtcgtccaccacca	0.303													A	42611137	G	A	42611137	4	1	80	1	0	0	0	0	0	1	0	0	15687	1153	40	1	5745	1	TCF20	22	42611137	Nonsense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1722	42611137	8693429	1149	55091											
SMC1B	27127	broad.mit.edu	37	chr22	45779402	45779402	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagattctttaactctttcTcatcccagcatctagccttg	4	12	4	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:45779402T>G	uc003bgc.2	-	12	2055	c.2003A>C	c.(2002-2004)GAG>GCG	p.E668A	SMC1B_uc003bgd.2_Missense_Mutation_p.E668A|SMC1B_uc003bge.1_Missense_Mutation_p.E451A	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	668	Potential.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TAACTCTTTCTCATCCCAGCA	0.348													G	45779402	T	G	45779402	3	3	80	1	0	0	0	0	1	0	0	0	14782	1551	54	5	1760	5	SMC1B	22	45779402	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	3168265	45779402	5525164	1150	55092											
CELSR1	9620	broad.mit.edu	37	chr22	46793727	46793728	+	Frame_Shift_Ins	INS	-	-	C													gtggcgacgttggtgggcgtINScccccccatcctcactccct							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:46793727_46793728insC	uc003bhw.1	-	12	5544_5545	c.5544_5545insG	c.(5542-5547)GGGACGfs	p.G1848fs	CELSR1_uc011arc.1_Frame_Shift_Ins_p.G169fs	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1848_1849	Extracellular (Potential).|Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTGGTGGGCGTCCCCCCCATCC	0.599													C	46793728	-	C	46793727	7	5	80	1	0	1	1	0	0	0	0	0	3221	1667	58	0	3595	0	CELSR1	22	46793727	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	1014325	46793727	4510839	1151	55093											
CELSR1	9620	broad.mit.edu	37	chr22	46931661	46931661	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttgagccccacgtcctcGggcacctggaccacgtagtt	12	14	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:46931661G>A	uc003bhw.1	-	1	1407	c.1407C>T	c.(1405-1407)CCC>CCT	p.P469P		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	469	Extracellular (Potential).|Cadherin 3.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCACGTCCTCGGGCACCTGGA	0.657													A	46931661	G	A	46931661	2	1	80	1	0	0	0	0	0	0	0	1	3221	1103	39	1		1	CELSR1	22	46931661	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	137934	46931661	4372905	1152	55094											
TUBGCP6	85378	broad.mit.edu	37	chr22	50660293	50660293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctgggtgctcagggcccGgagacgtgacctgaaacaca	13	13	2	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:50660293G>A	uc003bkb.1	-	16	3007	c.2495C>T	c.(2494-2496)CCG>CTG	p.P832L	TUBGCP6_uc003bka.1_5'UTR|TUBGCP6_uc010har.1_Missense_Mutation_p.P824L|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_Missense_Mutation_p.P28L	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	832					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTCAGGGCCCGGAGACGTGAC	0.627													A	50660293	G	A	50660293	3	1	80	1	0	0	0	0	1	0	0	0	16767	1116	39	1	3004	1	TUBGCP6	22	50660293	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	3728632	50660293	644273	1153	55095											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51043425	51043425	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgggggacacctcgccggaCagccctgacctcactttctc	10	17	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:51043425C>A	uc003bmx.2	+	6	1815	c.1698C>A	c.(1696-1698)GAC>GAA	p.D566E	MAPK8IP2_uc003bmy.2_Missense_Mutation_p.D539E|MAPK8IP2_uc011asc.1_5'Flank	NM_012324	NP_036456	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting	566					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			large_intestine(2)|central_nervous_system(1)	3		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCGCCGGACAGCCCTGACC	0.662													A	51043425	C	A	51043425	3	1	80	1	0	0	0	0	1	0	0	0	9285	478	17	5	1805	5	MAPK8IP2	22	51043425	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	383132	51043425	261141	1154	55096											
IL3RA	3563	broad.mit.edu	37	chrX	1471219	1471219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaccgcttaccgcagcaggCgtcaacagtacgagtgtctt	10	12	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:1471219C>T	uc004cps.2	+	6	785	c.436C>T	c.(436-438)CGT>TGT	p.R146C	IL3RA_uc011mhd.1_Missense_Mutation_p.R68C	NM_002183	NP_002174	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha precursor	146	Extracellular (Potential).					integral to membrane|plasma membrane	interleukin-3 receptor activity			skin(2)|lung(1)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCGCAGCAGGCGTCAACAGTA	0.597													T	1471219	C	T	1471219	3	4	80	1	0	0	0	0	1	0	0	0	7695	768	27	1	454	1	IL3RA	23	1471219	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08		1471219	153799341	1155	55097											
P2RY8	286530	broad.mit.edu	37	chrX	1585026	1585026	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaggtccctgcacacgcGgccaccgcgtaacgacggcg	13	17	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:1585026G>A	uc004cpz.2	-	2	674	c.426C>T	c.(424-426)GCC>GCT	p.A142A		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	142	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGCACACGCGGCCACCGCGT	0.687			T	CRLF2	B-ALL|Downs associated ALL								A	1585026	G	A	1585026	2	1	80	1	0	0	0	0	0	0	0	1	11355	1103	39	1		1	P2RY8	23	1585026	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	113807	1585026	153685534	1156	55098											
DHRSX	207063	broad.mit.edu	37	chrX	2343243	2343243	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaaagtcatcacctatgAtaacatgcatgccaagtctc	6	10	3	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:2343243A>G	uc004cqf.3	-	2	261	c.212T>C	c.(211-213)ATC>ACC	p.I71T		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	71	NAD or NADP (By similarity).						binding|oxidoreductase activity				0		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ATCACCTATGATAACATGCAT	0.328													G	2343243	A	G	2343243	3	3	80	1	0	0	0	0	1	0	0	0	4499	333	12	3	804	3	DHRSX	23	2343243	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	758217	2343243	152927317	1157	55099											
MXRA5	25878	broad.mit.edu	37	chrX	3235851	3235851	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtagacagtgacgtcctgGtagtgggaggctaggatttg	17	5	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:3235851G>A	uc004crg.3	-	6	6028	c.5871C>T	c.(5869-5871)TAC>TAT	p.Y1957Y		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1957	Ig-like C2-type 4.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGACGTCCTGGTAGTGGGAGG	0.582													A	3235851	G	A	3235851	2	1	80	1	0	0	0	0	0	0	0	1	10003	1256	44	4		4	MXRA5	23	3235851	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	892608	3235851	152034709	1158	55100											
WWC3	55841	broad.mit.edu	37	chrX	10078029	10078029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggagctgcggcgtgcaCgggccacctccgcacagggc	17	14	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:10078029C>T	uc004csx.3	+	9	1141	c.943C>T	c.(943-945)CGG>TGG	p.R315W	WWC3_uc010nds.2_Translation_Start_Site|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	315	Potential.									ovary(4)	4						GCGGCGTGCACGGGCCACCTC	0.677													T	10078029	C	T	10078029	3	4	80	1	0	0	0	0	1	0	0	0	17410	527	19	1	973	1	WWC3	23	10078029	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	6842178	10078029	145192531	1159	55101											
GRPR	2925	broad.mit.edu	37	chrX	16170715	16170715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagagtaccaacccctccGtggccacctttagcctcatc	6	17	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:16170715G>A	uc004cxj.2	+	3	1755	c.1102G>A	c.(1102-1104)GTG>ATG	p.V368M		NM_005314	NP_005305	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	368	Cytoplasmic (Potential).				cell proliferation	integral to plasma membrane	bombesin receptor activity			ovary(3)|lung(1)	4	Hepatocellular(33;0.183)					CAACCCCTCCGTGGCCACCTT	0.537													A	16170715	G	A	16170715	3	1	80	1	0	0	0	0	1	0	0	0	6808	1145	40	1	1112	1	GRPR	23	16170715	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	6092686	16170715	139099845	1160	55102											
RBBP7	5931	broad.mit.edu	37	chrX	16887283	16887285	+	In_Frame_Del	DEL	TTC	TTC	-													ggtcatatagaaacggtgtaTtcttcttccagattttatat							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:16887283_16887285delTTC	uc004cxt.2	-	2	433_435	c.75_77delGAA	c.(73-78)AAGAAT>AAT	p.K25del	RBBP7_uc004cxs.1_In_Frame_Del_p.K69del|RBBP7_uc004cxu.2_In_Frame_Del_p.K25del	NM_002893	NP_002884	Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	25					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			upper_aerodigestive_tract(1)|ovary(1)	2	Hepatocellular(33;0.0997)					AAACGGTGTATTCTTCTTCCAGA	0.433													-	16887285	TTC	-	16887283	7	5	80	1	0	1	0	1	0	0	0	0	13104	1493	52	0	1244	0	RBBP7	23	16887283	In_Frame_Del	DEL	TTC	TCGA-BR-8368-01A-11D-2340-08	716568	16887283	138383277	1161	55103											
MAP3K15	389840	broad.mit.edu	37	chrX	19389099	19389099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatgagaatggtgaccgcGgcctgcaccgctcggcggat	17	11	0	2	rs143117337		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:19389099G>A	uc004czk.1	-	25	3440	c.1803C>T	c.(1801-1803)GCC>GCT	p.A601A	MAP3K15_uc004czj.1_Silent_p.A561A|MAP3K15_uc004czi.1_Silent_p.A60A	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	1126							ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)					TGGTGACCGCGGCCTGCACCG	0.443													A	19389099	G	A	19389099	2	1	80	1	0	0	0	0	0	0	0	1	9249	1103	39	1		1	MAP3K15	23	19389099	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2501816	19389099	135881461	1162	55104											
SH3KBP1	30011	broad.mit.edu	37	chrX	19725094	19725094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctggcaccggcgcctccGtcgctcgcctggatgggaaa	13	16	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:19725094G>A	uc004czm.2	-	4	611	c.295C>T	c.(295-297)CGG>TGG	p.R99W	SH3KBP1_uc004czl.2_Missense_Mutation_p.R62W	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	99	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0						CGGCGCCTCCGTCGCTCGCCT	0.502													A	19725094	G	A	19725094	3	1	80	1	0	0	0	0	1	0	0	0	14255	1144	40	1	1778	1	SH3KBP1	23	19725094	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	335995	19725094	135545466	1163	55105											
ZFX	7543	broad.mit.edu	37	chrX	24228818	24228818	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtaccaatgccagtactgCgaatataggtctgcagactc	9	12	1	1	rs143557208	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:24228818C>T	uc004dbf.2	+	9	2001	c.1743C>T	c.(1741-1743)TGC>TGT	p.C581C	ZFX_uc004dbe.2_3'UTR|ZFX_uc011mjv.1_Silent_p.C620C|ZFX_uc010nfz.2_Silent_p.C237C	NM_003410	NP_003401	P17010	ZFX_HUMAN	zinc finger protein, X-linked	581	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(2)	2						GCCAGTACTGCGAATATAGGT	0.428													T	24228818	C	T	24228818	2	4	80	1	0	0	0	0	0	0	0	1	17658	776	27	1		1	ZFX	23	24228818	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	4503724	24228818	131041742	1164	55106											
PDK3	5165	broad.mit.edu	37	chrX	24483604	24483604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtggctgctgaagcagcCggtgcccaagcagatcgagc	15	13	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:24483604C>T	uc004dbg.2	+	1	261	c.32C>T	c.(31-33)CCG>CTG	p.P11L	PDK3_uc004dbh.2_Missense_Mutation_p.P11L	NM_005391	NP_005382	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase 3 isoform 2	11					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						CTGAAGCAGCCGGTGCCCAAG	0.682													T	24483604	C	T	24483604	3	4	80	1	0	0	0	0	1	0	0	0	11677	652	23	1	34	1	PDK3	23	24483604	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	254786	24483604	130786956	1165	55107											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29301173	29301173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacaaattactcccttgcCcaaagtgctggactcagttt	7	11	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:29301173C>T	uc004dby.2	+	3	709	c.201C>T	c.(199-201)GCC>GCT	p.A67A		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	67	Ig-like C2-type 1.|Extracellular (Potential).				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						ACTCCCTTGCCCAAAGTGCTG	0.413													T	29301173	C	T	29301173	2	4	80	1	0	0	0	0	0	0	0	1	7661	610	22	4		4	IL1RAPL1	23	29301173	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	4817569	29301173	125969387	1166	55108											
MAGEB3	4114	broad.mit.edu	37	chrX	30254466	30254466	+	Frame_Shift_Del	DEL	A	A	-													agatatgctaaaaattgtccAaaaaagccataagaattgct							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:30254465_30254465CA>C	uc022bug.1	+	0	424	c.424_424CA>C	c.(424-426)caafs	p.Q142fs	MAGEB3_uc004dca.2_Frame_Shift_Del_p.Q142fs	NM_002365	NP_002356	O15480	MAGB3_HUMAN	Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.	142	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AAAAATTGTCCAAAAAAGCCA	0.353													-	30254466	A	-	30254466	7	5	80	1	0	1	0	1	0	0	0	0	9177	130	5	0	427	0	MAGEB3	23	30254466	Frame_Shift_Del	DEL	A	TCGA-BR-8368-01A-11D-2340-08	953293	30254466	125016094	1167	55109											
MAGEB4	4115	broad.mit.edu	37	chrX	30260427	30260427	+	Frame_Shift_Del	DEL	C	C	-													gctcccttgcttttggcattCcccaggagcctcagagagag							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:30260426_30260426TC>T	uc004dcb.3	+	0	370	c.174_174TC>T	c.(172-174)attfs	p.I58fs	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	58										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CTTTTGGCATTCCCCAGGAGC	0.527													-	30260427	C	-	30260427	7	5	80	1	0	1	0	1	0	0	0	0	9178	855	30	0	177	0	MAGEB4	23	30260427	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	5961	30260427	125010133	1168	55110											
FAM47A	158724	broad.mit.edu	37	chrX	34148467	34148467	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactcctttactttcttaaaCttttggtcctcatgggttgc	6	11	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:34148467C>A	uc004ddg.2	-	1	1962	c.1929G>T	c.(1927-1929)AAG>AAT	p.K643N		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	643										ovary(4)|central_nervous_system(1)	5						CTTTCTTAAACTTTTGGTCCT	0.443													A	34148467	C	A	34148467	3	1	80	1	0	0	0	0	1	0	0	0	5569	564	20	5	450	5	FAM47A	23	34148467	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3888040	34148467	121122093	1169	55111											
USP9X	8239	broad.mit.edu	37	chrX	41060495	41060497	+	In_Frame_Del	DEL	GAT	GAT	-													aaggcacaggtagtgatgtaGatgatgatatgtctggggat							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:41060495_41060497delGAT	uc004dfb.2	+	31	5419_5421	c.4786_4788delGAT	c.(4786-4788)GATdel	p.D1598del	USP9X_uc004dfc.2_In_Frame_Del_p.D1598del	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1598					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						TAGTGATGTAGATGATGATATGT	0.394													-	41060497	GAT	-	41060495	7	5	80	1	0	1	0	1	0	0	0	0	17087	942	33	0	4904	0	USP9X	23	41060495	In_Frame_Del	DEL	GAT	TCGA-BR-8368-01A-11D-2340-08	6912028	41060495	114210065	1170	55112											
CHST7	56548	broad.mit.edu	37	chrX	46433917	46433917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgcgcgcgccccggacaCggccaatcttaccacggccg	12	19	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:46433917C>T	uc004dgt.2	+	1	726	c.551C>T	c.(550-552)ACG>ATG	p.T184M		NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	chondroitin 6-sulfotransferase 7	184	Lumenal (Potential).				chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)	3						gccccggACACGGCCAATCTT	0.562													T	46433917	C	T	46433917	3	4	80	1	0	0	0	0	1	0	0	0	3409	536	19	1	553	1	CHST7	23	46433917	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	5373422	46433917	108836643	1171	55113											
SLC9A7	84679	broad.mit.edu	37	chrX	46541838	46541838	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatttctcctttcagagtgTattcgaagaactttccgctg	8	9	2	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:46541838T>C	uc004dgu.1	-	2	466	c.458A>G	c.(457-459)TAC>TGC	p.Y153C	SLC9A7_uc004dgv.1_Missense_Mutation_p.Y153C	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	solute carrier family 9, member 7	153					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			ovary(2)	2						TTTCAGAGTGTATTCGAAGAA	0.502													C	46541838	T	C	46541838	3	2	80	1	0	0	0	0	1	0	0	0	14719	1638	57	3	1783	3	SLC9A7	23	46541838	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	107921	46541838	108728722	1172	55114											
ARAF	369	broad.mit.edu	37	chrX	47426094	47426094	+	Frame_Shift_Del	DEL	C	C	-													cttccctgccccagccaatgCccccctacagcgcatccgct							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:47426093_47426093GC>G	uc011mlp.2	+	6	807	c.613_613GC>G	c.(613-615)gccfs	p.A205fs	ARAF_uc011mln.2_Intron|ARAF_uc011mlo.2_Frame_Shift_Del_p.A71fs|ARAF_uc004dic.1_5'UTR	NM_001654	NP_001645	P10398	ARAF_HUMAN	Homo sapiens v-raf murine sarcoma 3611 viral oncogene homolog (ARAF), transcript variant 1, mRNA.	205					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CCCAGCCAATGCCCCCCTACA	0.632													-	47426094	C	-	47426094	7	5	80	1	0	1	0	1	0	0	0	0	837	739	26	0	636	0	ARAF	23	47426094	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	884256	47426094	107844466	1173	55115											
WAS	7454	broad.mit.edu	37	chrX	48547416	48547416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtgggggtcggggagcGcttttggatcaaatccggca	17	9	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:48547416G>A	uc004dkm.3	+	10	1356	c.1299G>A	c.(1297-1299)GCG>GCA	p.A433A		NM_000377	NP_000368	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome protein	433	WH2.				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			ovary(1)	1		all_lung(315;1.27e-10)				GTCGGGGAGCGCTTTTGGATC	0.602			Mis|N|F|S			lymphoma			Wiskott-Aldrich_syndrome				A	48547416	G	A	48547416	2	1	80	1	0	0	0	0	0	0	0	1	17248	1074	38	1		1	WAS	23	48547416	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1121322	48547416	106723144	1174	55116											
SYP	6855	broad.mit.edu	37	chrX	49048143	49048143	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggaggcgcgcgcaggaaCggggcggcccagcctgtctc	18	15	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:49048143C>T	uc004dmz.1	-	6	709	c.693G>A	c.(691-693)CCG>CCA	p.P231P	SYP_uc011mmz.1_Silent_p.P113P|SYP_uc004dna.1_Silent_p.P225P	NM_003179	NP_003170	P08247	SYPH_HUMAN	synaptophysin	231	Cytoplasmic (Potential).				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(315;0.00016)				CGCGCAGGAACGGGGCGGCCC	0.706													T	49048143	C	T	49048143	2	4	80	1	0	0	0	0	0	0	0	1	15458	523	19	1		1	SYP	23	49048143	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	500727	49048143	106222417	1175	55117											
CACNA1F	778	broad.mit.edu	37	chrX	49083447	49083447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaccaaggttgtcatcggCggaggggtcctccatgtcca	13	11	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:49083447C>T	uc004dnb.2	-	9	1323	c.1261G>A	c.(1261-1263)GCC>ACC	p.A421T	CACNA1F_uc010nip.2_Missense_Mutation_p.A421T	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	421	Cytoplasmic (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	TTGTCATCGGCGGAGGGGTCC	0.602													T	49083447	C	T	49083447	3	4	80	1	0	0	0	0	1	0	0	0	2543	768	27	1	4832	1	CACNA1F	23	49083447	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	35304	49083447	106187113	1176	55118											
CCNB3	85417	broad.mit.edu	37	chrX	50028182	50028182	+	Frame_Shift_Del	DEL	C	C	-													tgatgctactgccactaccaCcccagagctccaaacctgtg							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:50028181_50028181AC>A	uc004dox.4	+	2	316	c.18_18AC>A	c.(16-18)ccafs	p.P6fs	CCNB3_uc004doy.3_Frame_Shift_Del_p.P6fs|CCNB3_uc004doz.3_Frame_Shift_Del_p.P6fs|CCNB3_uc010njq.3_5'UTR	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	6					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TGCCACTACCACCCCAGAGCT	0.483													-	50028182	C	-	50028182	7	5	80	1	0	1	0	1	0	0	0	0	2914	507	18	0	21	0	CCNB3	23	50028182	Frame_Shift_Del	DEL	C	TCGA-BR-8368-01A-11D-2340-08	944735	50028182	105242378	1177	55119											
SHROOM4	57477	broad.mit.edu	37	chrX	50377325	50377325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcaaaacgctcactcttcCgccggttttggatcgagcgg	11	12	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:50377325C>T	uc004dpe.2	-	4	1774	c.1748G>A	c.(1747-1749)CGG>CAG	p.R583Q	SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.R467Q	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	583					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					CTCACTCTTCCGCCGGTTTTG	0.582													T	50377325	C	T	50377325	3	4	80	1	0	0	0	0	1	0	0	0	14296	652	23	1	2757	1	SHROOM4	23	50377325	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	349143	50377325	104893235	1178	55120											
SHROOM4	57477	broad.mit.edu	37	chrX	50557009	50557009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactggaaggacccaggccGgttctccatcctcggctggg	14	13	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:50557009G>A	uc004dpe.2	-	1	36	c.10C>T	c.(10-12)CGG>TGG	p.R4W	SHROOM4_uc004dpd.3_RNA	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	4					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					GACCCAGGCCGGTTCTCCATC	0.687													A	50557009	G	A	50557009	3	1	80	1	0	0	0	0	1	0	0	0	14296	1115	39	1	4507	1	SHROOM4	23	50557009	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	179684	50557009	104713551	1179	55121											
IQSEC2	23096	broad.mit.edu	37	chrX	53285133	53285133	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcccactccagcaggggggCcccccatgtggctgctggag	16	15	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:53285133C>G	uc004dsd.2	-	3	1049	c.848G>C	c.(847-849)GGC>GCC	p.G283A	IQSEC2_uc004dsc.2_Missense_Mutation_p.G78A	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	273					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						AGCAGGGGGGCCCCCCATGTG	0.687													G	53285133	C	G	53285133	3	3	80	1	0	0	0	0	1	0	0	0	7818	739	26	5	3670	5	IQSEC2	23	53285133	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2728124	53285133	101985427	1180	55122											
HUWE1	10075	broad.mit.edu	37	chrX	53573484	53573484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggtcccagagtccccccGggagagctgcagtagtacgt	14	14	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:53573484G>A	uc004dsp.2	-	70	11230	c.10828C>T	c.(10828-10830)CGG>TGG	p.R3610W	HUWE1_uc004dsn.2_Missense_Mutation_p.R2418W|HUWE1_uc004dsq.1_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3610					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GAGTCCCCCCGGGAGAGCTGC	0.512													A	53573484	G	A	53573484	3	1	80	1	0	0	0	0	1	0	0	0	7461	1115	39	1	2356	1	HUWE1	23	53573484	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	288351	53573484	101697076	1181	55123											
PHF8	23133	broad.mit.edu	37	chrX	54026320	54026320	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacttctttccttgtccaggCtctaaaggccaagttcaagg	8	11	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:54026320C>A	uc004dsu.2	-	11	1397	c.1324G>T	c.(1324-1326)GCC>TCC	p.A442S	PHF8_uc004dst.2_Missense_Mutation_p.A406S|PHF8_uc004dsv.2_Missense_Mutation_p.A272S|PHF8_uc004dsw.2_Missense_Mutation_p.A406S|PHF8_uc004dsx.2_Missense_Mutation_p.A170S|PHF8_uc004dsy.2_Missense_Mutation_p.A406S	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	442					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						CTTGTCCAGGCTCTAAAGGCC	0.478													A	54026320	C	A	54026320	3	1	80	1	0	0	0	0	1	0	0	0	11840	797	28	5	2076	5	PHF8	23	54026320	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	452836	54026320	101244240	1182	55124											
WNK3	65267	broad.mit.edu	37	chrX	54263784	54263784	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcctttattttctttacaGgtttcctgaagagcttgtaa	6	8	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:54263784G>T	uc004dtd.1	-	20	4513	c.4074C>A	c.(4072-4074)ACC>ACA	p.T1358T	WNK3_uc004dtc.1_Silent_p.T1405T	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1358					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						TTTCTTTACAGGTTTCCTGAA	0.378													T	54263784	G	T	54263784	2	4	80	1	0	0	0	0	0	0	0	1	17376	987	35	5		5	WNK3	23	54263784	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	237464	54263784	101006776	1183	55125											
WNK3	65267	broad.mit.edu	37	chrX	54275765	54275765	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	actggcagtttggtgacatgGatacacaggtatgaatatgc	12	6	0	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:54275765G>T	uc004dtd.1	-	17	3455	c.3016C>A	c.(3016-3018)CCA>ACA	p.P1006T	WNK3_uc004dtc.1_Missense_Mutation_p.P1006T	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1006					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						TGGTGACATGGATACACAGGT	0.443													T	54275765	G	T	54275765	3	4	80	1	0	0	0	0	1	0	0	0	17376	1174	41	5	2418	5	WNK3	23	54275765	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	11981	54275765	100994795	1184	55126											
ZXDB	158586	broad.mit.edu	37	chrX	57618747	57618747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcggcggcggcggcggcgGcgacgacttcttcctggtgc	19	14	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:57618747G>A	uc004dvd.2	+	1	479	c.266G>A	c.(265-267)GGC>GAC	p.G89D		NM_007157	NP_009088	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	89	Poly-Gly.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						ggcggcggcggcgacgACTTC	0.552													A	57618747	G	A	57618747	3	1	80	1	0	0	0	0	1	0	0	0	18248	1203	42	2	268	2	ZXDB	23	57618747	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	3342982	57618747	97651813	1185	55127											
HEPH	9843	broad.mit.edu	37	chrX	65486430	65486430	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcttggtggagtggtttgGtaccaacatcgacagagaaa	13	7	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:65486430G>A	uc011moz.1	+	21	3462	c.3402G>A	c.(3400-3402)TGG>TGA	p.W1134*	HEPH_uc004dwn.2_Nonsense_Mutation_p.W1133*|HEPH_uc004dwo.2_Nonsense_Mutation_p.W864*|HEPH_uc010nkr.2_Nonsense_Mutation_p.W942*|HEPH_uc011mpa.1_Nonsense_Mutation_p.W1134*	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	1131	Helical; (Potential).				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						GAGTGGTTTGGTACCAACATC	0.488													A	65486430	G	A	65486430	4	1	80	1	0	0	0	0	0	1	0	0	7054	1270	44	4	3637	4	HEPH	23	65486430	Nonsense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	7867683	65486430	89784130	1186	55128											
ZMYM3	9203	broad.mit.edu	37	chrX	70469892	70469892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctctccagtcttctggCatatgctgcagcgagtagcg	10	13	4	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:70469892C>T	uc004dzh.1	-	6	1322	c.1235G>A	c.(1234-1236)TGC>TAC	p.C412Y	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.C412Y|ZMYM3_uc004dzj.1_Missense_Mutation_p.C412Y|ZMYM3_uc011mpu.1_Missense_Mutation_p.C143Y|ZMYM3_uc004dzk.3_Missense_Mutation_p.C412Y|ZMYM3_uc004dzl.3_Missense_Mutation_p.C412Y|ZMYM3_uc004dzm.3_Missense_Mutation_p.C412Y	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	412	MYM-type 2.				multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)					AGTCTTCTGGCATATGCTGCA	0.642													T	70469892	C	T	70469892	3	4	80	1	0	0	0	0	1	0	0	0	17698	710	25	2	2975	2	ZMYM3	23	70469892	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	4983462	70469892	84800668	1187	55129											
NONO	4841	broad.mit.edu	37	chrX	70516763	70516763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtatgaatatgccatgcGctggaaggcactcattgaga	12	7	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:70516763G>A	uc004dzo.2	+	8	1519	c.809G>A	c.(808-810)CGC>CAC	p.R270H	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Missense_Mutation_p.R270H|NONO_uc004dzp.2_Missense_Mutation_p.R270H|NONO_uc011mpv.1_Missense_Mutation_p.R181H|NONO_uc004dzq.2_Missense_Mutation_p.R139H	NM_001145408	NP_001138880	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	270	Potential.|DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	ovary(2)|kidney(2)	4	Renal(35;0.156)					TATGCCATGCGCTGGAAGGCA	0.522			T	TFE3	papillary renal cancer								A	70516763	G	A	70516763	3	1	80	1	0	0	0	0	1	0	0	0	10534	1087	38	1	827	1	NONO	23	70516763	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	46871	70516763	84753797	1188	55130											
PHKA1	5255	broad.mit.edu	37	chrX	71829541	71829541	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgtttctggtgggagagaaGgtctgtgcaggcctaacaag	15	6	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:71829541G>C	uc004eax.3	-	23	2840	c.2539C>G	c.(2539-2541)CTT>GTT	p.L847V	PHKA1_uc004eay.3_Missense_Mutation_p.L847V|PHKA1_uc011mqi.1_Missense_Mutation_p.L788V	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	847					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					TGGGAGAGAAGGTCTGTGCAG	0.448													C	71829541	G	C	71829541	3	2	80	1	0	0	0	0	1	0	0	0	11843	1000	35	5	1172	5	PHKA1	23	71829541	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1312778	71829541	83441019	1189	55131											
NAP1L2	4674	broad.mit.edu	37	chrX	72434188	72434188	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcggcagcttcttcaccGcacttcccatcgtctccaag	7	18	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:72434188G>A	uc004ebi.2	-	1	497	c.141C>T	c.(139-141)TGC>TGT	p.C47C	NAP1L2_uc011mqj.1_Intron	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	47					nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)					CTTCTTCACCGCACTTCCCAT	0.567													A	72434188	G	A	72434188	2	1	80	1	0	0	0	0	0	0	0	1	10157	1079	38	1		1	NAP1L2	23	72434188	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	604647	72434188	82836372	1190	55132											
KIAA2022	340533	broad.mit.edu	37	chrX	73961406	73961406	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgacagagagtggggccaTtgaatcaaagctaaagagcc	13	8	1	4			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:73961406T>C	uc004eby.2	-	3	3603	c.2986A>G	c.(2986-2988)ATG>GTG	p.M996V		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	996					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						AGTGGGGCCATTGAATCAAAG	0.443													C	73961406	T	C	73961406	3	2	80	1	0	0	0	0	1	0	0	0	8269	1493	52	3	1572	3	KIAA2022	23	73961406	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	1527218	73961406	81309154	1191	55133											
MAGEE1	57692	broad.mit.edu	37	chrX	75649451	75649451	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaccgcctctgatggatcGgacacctccgtgccgcccac	9	20	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:75649451G>A	uc004ecm.1	+	1	1335	c.1128G>A	c.(1126-1128)TCG>TCA	p.S376S		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	376	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						CTGATGGATCGGACACCTCCG	0.682													A	75649451	G	A	75649451	2	1	80	1	0	0	0	0	0	0	0	1	9185	1103	39	1		1	MAGEE1	23	75649451	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1688045	75649451	79621109	1192	55134											
ATRX	546	broad.mit.edu	37	chrX	76939711	76939711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatctctttgggcacaattAgtgcggaataagagtaggtt	11	6	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:76939711A>G	uc004ecp.3	-	9	1269	c.1037T>C	c.(1036-1038)CTA>CCA	p.L346P	ATRX_uc004ecq.3_Missense_Mutation_p.L308P|ATRX_uc004eco.3_Missense_Mutation_p.L131P|ATRX_uc004ecr.2_Missense_Mutation_p.L307P|ATRX_uc010nlx.1_Missense_Mutation_p.L346P|ATRX_uc010nly.1_Missense_Mutation_p.L291P	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	346					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	GGGCACAATTAGTGCGGAATA	0.363			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76939711	A	G	76939711	3	3	80	1	0	0	0	0	1	0	0	0	1208	420	15	3	6549	3	ATRX	23	76939711	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	1290260	76939711	78330849	1193	55135											
MAGT1	84061	broad.mit.edu	37	chrX	77150868	77150868	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgagcagcgccaccaccaTggtcacagagacacaccaaa	9	14	1	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:77150868T>C	uc004fof.2	-	1	198	c.136A>G	c.(136-138)ATG>GTG	p.M46V	MAGT1_uc004fog.3_RNA|MAGT1_uc004ect.3_Missense_Mutation_p.M46V	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	14					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				upper_aerodigestive_tract(1)	1						GCCACCACCATGGTCACAGAG	0.567													C	77150868	T	C	77150868	3	2	80	1	0	0	0	0	1	0	0	0	9196	1464	51	3	1007	3	MAGT1	23	77150868	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	211157	77150868	78119692	1194	55136											
SATL1	340562	broad.mit.edu	37	chrX	84362915	84362915	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgattggcttggggctcGttgcggtggacctggttggc	18	9	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:84362915G>A	uc011mqx.1	-	1	1060	c.1060C>T	c.(1060-1062)CGA>TGA	p.R354*	SATL1_uc004een.2_Nonsense_Mutation_p.R354*	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	167	Gln-rich.						N-acetyltransferase activity			breast(2)	2						CTTGGGGCTCGTTGCGGTGGA	0.537													A	84362915	G	A	84362915	4	1	80	1	0	0	0	0	0	1	0	0	13855	1153	40	1	858	1	SATL1	23	84362915	Nonsense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	7212047	84362915	70907645	1195	55137											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177108	89177108	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggccgctgcggacggcccGgctgagacccaaagcccggt	16	15	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:89177108G>A	uc004efe.2	+	2	73	c.24G>A	c.(22-24)CCG>CCA	p.P8P		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	8						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CGGACGGCCCGGCTGAGACCC	0.527													A	89177108	G	A	89177108	2	1	80	1	0	0	0	0	0	0	0	1	15824	1103	39	1		1	TGIF2LX	23	89177108	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	4814193	89177108	66093452	1196	55138											
PCDH19	57526	broad.mit.edu	37	chrX	99657766	99657766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgtctcctccacatccCggggtaccaggcggatgtca	11	14	3	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:99657766C>T	uc010nmz.2	-	3	4048	c.2372G>A	c.(2371-2373)CGG>CAG	p.R791Q	PCDH19_uc004efw.3_Missense_Mutation_p.R744Q|PCDH19_uc004efx.3_Missense_Mutation_p.R744Q	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	791	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						CTCCACATCCCGGGGTACCAG	0.483													T	99657766	C	T	99657766	3	4	80	1	0	0	0	0	1	0	0	0	11514	652	23	1	1090	1	PCDH19	23	99657766	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	10480658	99657766	55612794	1197	55139											
NXF5	55998	broad.mit.edu	37	chrX	101095825	101095825	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtaatgtcagaaaggccatCcagctggtacagtttgttgt	11	7	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:101095825C>A	uc011mrk.1	-	9	883	c.523G>T	c.(523-525)GAT>TAT	p.D175Y	NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_Intron|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	175	LRR 1.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			central_nervous_system(1)	1						GAAAGGCCATCCAGCTGGTAC	0.473													A	101095825	C	A	101095825	3	1	80	1	0	0	0	0	1	0	0	0	10786	855	30	5	606	5	NXF5	23	101095825	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1438059	101095825	54174735	1198	55140											
TCEAL5	340543	broad.mit.edu	37	chrX	102529304	102529304	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcatcttccagttgtcccTcatcacctggctctccctca	4	19	6	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:102529304T>G	uc004ejz.1	-	3	483	c.188A>C	c.(187-189)GAG>GCG	p.E63A		NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	63	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(1)|breast(1)	2						CAGTTGtccctcatcacctgg	0.269													G	102529304	T	G	102529304	3	3	80	1	0	0	0	0	1	0	0	0	15671	1551	54	5	436	5	TCEAL5	23	102529304	Missense_Mutation	SNP	T	TCGA-BR-8368-01A-11D-2340-08	1433479	102529304	52741256	1199	55141											
PLP1	5354	broad.mit.edu	37	chrX	103041611	103041611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaagctcattctttggagCgggtgtgtcattgtttggga	13	6	4	0	rs132630295		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:103041611C>T	uc010nov.2	+	4	689	c.409C>T	c.(409-411)CGG>TGG	p.R137W	RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.R137W|PLP1_uc004elj.2_Intron|PLP1_uc011msf.1_Missense_Mutation_p.R82W|PLP1_uc010now.1_Missense_Mutation_p.R141W|PLP1_uc010nox.2_Missense_Mutation_p.R91W	NM_001128834	NP_001122306	P60201	MYPR_HUMAN	proteolipid protein 1 isoform 1	137	Cytoplasmic (Probable).		R -> W (in SPG2).|Missing (in HLD1).		cell death|synaptic transmission	integral to membrane		p.R137W(1)		ovary(1)	1						TTCTTTGGAGCGGGTGTGTCA	0.552													T	103041611	C	T	103041611	3	4	80	1	0	0	0	0	1	0	0	0	12104	759	27	1	419	1	PLP1	23	103041611	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	512307	103041611	52228949	1200	55142											
NRK	203447	broad.mit.edu	37	chrX	105181436	105181436	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttatatatgaacaggagtcAatttgctgttgggaacccga	10	6	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:105181436A>G	uc004emd.2	+	22	3964	c.3661A>G	c.(3661-3663)AAT>GAT	p.N1221D	NRK_uc010npc.1_Missense_Mutation_p.N889D	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1221	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						AACAGGAGTCAATTTGCTGTT	0.348										HNSCC(51;0.14)			G	105181436	A	G	105181436	3	3	80	1	0	0	0	0	1	0	0	0	10655	130	5	3	3747	3	NRK	23	105181436	Missense_Mutation	SNP	A	TCGA-BR-8368-01A-11D-2340-08	2139825	105181436	50089124	1201	55143											
RNF128	79589	broad.mit.edu	37	chrX	105970349	105970349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggagctgagcgaggaggGcgtgtacggccaggactcgc	20	9	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:105970349G>A	uc004eml.2	+	1	456	c.206G>A	c.(205-207)GGC>GAC	p.G69D	RNF128_uc004emk.2_Intron	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	ring finger protein 128 isoform 1	69						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	p.G69D(1)		ovary(1)|central_nervous_system(1)	2						AGCGAGGAGGGCGTGTACGGC	0.682													A	105970349	G	A	105970349	3	1	80	1	0	0	0	0	1	0	0	0	13436	1203	42	2	618	2	RNF128	23	105970349	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	788913	105970349	49300211	1202	55144											
RNF128	79589	broad.mit.edu	37	chrX	105970426	105970426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggcccggggcgcttaacGcctgtaacccgcacacgaat	12	15	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:105970426G>A	uc004eml.2	+	1	533	c.283G>A	c.(283-285)GCC>ACC	p.A95T	RNF128_uc004emk.2_Intron	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	ring finger protein 128 isoform 1	95	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			ovary(1)|central_nervous_system(1)	2						GGCGCTTAACGCCTGTAACCC	0.677													A	105970426	G	A	105970426	3	1	80	1	0	0	0	0	1	0	0	0	13436	1087	38	1	695	1	RNF128	23	105970426	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	77	105970426	49300134	1203	55145											
ATG4A	115201	broad.mit.edu	37	chrX	107372043	107372043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttgtctgatataagtgctCgtctatggtttacatacaga	9	6	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:107372043C>T	uc004enr.2	+	3	277	c.154C>T	c.(154-156)CGT>TGT	p.R52C	ATG4A_uc004ent.2_Missense_Mutation_p.R52C|ATG4A_uc004ens.2_5'UTR|ATG4A_uc011msl.1_5'UTR|ATG4A_uc010npi.2_RNA|ATG4A_uc004enu.2_Intron	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN	autophagy-related cysteine endopeptidase 2	52					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			pancreas(1)	1						TATAAGTGCTCGTCTATGGTT	0.323													T	107372043	C	T	107372043	3	4	80	1	0	0	0	0	1	0	0	0	1096	884	31	1	164	1	ATG4A	23	107372043	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	1401617	107372043	47898517	1204	55146											
IRS4	8471	broad.mit.edu	37	chrX	107977352	107977352	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacatcatcatgtacccTcttgaatcttcaaaagggga	8	9	5	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:107977352T>C	uc004eoc.2	-	1	2256	c.2223A>G	c.(2221-2223)AGA>AGG	p.R741R		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	741	CRK-binding.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						TCATGTACCCTCTTGAATCTT	0.468													C	107977352	T	C	107977352	2	2	80	1	0	0	0	0	0	0	0	1	7842	1548	54	3		3	IRS4	23	107977352	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	605309	107977352	47293208	1205	55147											
IRS4	8471	broad.mit.edu	37	chrX	107977803	107977804	+	Frame_Shift_Ins	INS	-	-	C													cccacttcctgagcctttgcINScccccccagagttcttgcca							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:107977802_107977803G>GC	uc004eoc.2	-	0	1805_1806	c.1772_1773C>GC	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													C	107977804	-	C	107977803	7	5	80	1	0	1	1	0	0	0	0	0	7842	739	26	0	2005	0	IRS4	23	107977803	Frame_Shift_Ins	INS	-	TCGA-BR-8368-01A-11D-2340-08	451	107977803	47292757	1206	55148											
GUCY2F	2986	broad.mit.edu	37	chrX	108691390	108691390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caactggattttatttatacGacgcctaaaacaaacatgaa	5	8	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:108691390G>A	uc004eod.3	-	6	1753	c.1477C>T	c.(1477-1479)CGT>TGT	p.R493C	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	493	Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						TTATTTATACGACGCCTAAAA	0.398													A	108691390	G	A	108691390	3	1	80	1	0	0	0	0	1	0	0	0	6898	1058	37	1	1905	1	GUCY2F	23	108691390	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	713587	108691390	46579170	1207	55149											
AMMECR1	9949	broad.mit.edu	37	chrX	109507781	109507781	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaaaagtacctatgcatcCacgtaatcttttgtctcgac	6	10	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:109507781C>A	uc004eoo.2	-	2	601	c.520G>T	c.(520-522)GGA>TGA	p.G174*	AMMECR1_uc004eop.2_Intron|AMMECR1_uc004eoq.2_Nonsense_Mutation_p.G51*	NM_015365	NP_056180	Q9Y4X0	AMER1_HUMAN	AMMECR1 protein isoform 1	174	AMMECR1.										0						CCTATGCATCCACGTAATCTT	0.343													A	109507781	C	A	109507781	4	1	80	1	0	0	0	0	0	1	0	0	578	603	21	5	501	5	AMMECR1	23	109507781	Nonsense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	816391	109507781	45762779	1208	55150											
TRPC5	7224	broad.mit.edu	37	chrX	111195319	111195319	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcagaagctccacagcGcccaccacttccttgcgtat	8	16	0	2	rs139867130		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:111195319G>A	uc004epl.1	-	2	1249	c.330C>T	c.(328-330)GGC>GGT	p.G110G	TRPC5_uc004epm.1_Silent_p.G110G	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	110	ANK 3.|Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						GCTCCACAGCGCCCACCACTT	0.547													A	111195319	G	A	111195319	2	1	80	1	0	0	0	0	0	0	0	1	16579	1074	38	1		1	TRPC5	23	111195319	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	1687538	111195319	44075241	1209	55151											
NKRF	55922	broad.mit.edu	37	chrX	118724034	118724034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtcgttcagcgtgcacaCgggatttgaagaattctcat	11	8	2	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:118724034C>T	uc004erq.2	-	2	2007	c.1354G>A	c.(1354-1356)GTG>ATG	p.V452M	NKRF_uc004err.2_Missense_Mutation_p.V452M	NM_017544	NP_060014	O15226	NKRF_HUMAN	transcription factor NRF	452					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			ovary(1)|central_nervous_system(1)	2						AGCGTGCACACGGGATTTGAA	0.423													T	118724034	C	T	118724034	3	4	80	1	0	0	0	0	1	0	0	0	10447	536	19	1	722	1	NKRF	23	118724034	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	7528715	118724034	36546526	1210	55152											
GRIA3	2892	broad.mit.edu	37	chrX	122537368	122537368	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccatagtagtgactaccattCtggtaagtgtgaacagaagg	11	7	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:122537368C>T	uc004etq.3	+	10	1584	c.1291C>T	c.(1291-1293)CTG>TTG	p.L431L	GRIA3_uc004etr.3_Silent_p.L431L|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Silent_p.L415L	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	431	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)	GACTACCATTCTGGTAAGTGT	0.428													T	122537368	C	T	122537368	2	4	80	1	0	0	0	0	0	0	0	1	6769	912	32	4		4	GRIA3	23	122537368	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3813334	122537368	32733192	1211	55153											
ODZ1	10178	broad.mit.edu	37	chrX	123514832	123514832	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcttcctccagagacccaaGcttaatgaagtagtgagtgt	10	9	1	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:123514832G>T	uc004euj.2	-	31	7796	c.7732C>A	c.(7732-7734)CTT>ATT	p.L2578I	ODZ1_uc011muj.1_Missense_Mutation_p.L2584I|ODZ1_uc010nqy.2_Missense_Mutation_p.L2585I	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	2578	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						AGAGACCCAAGCTTAATGAAG	0.498													T	123514832	G	T	123514832	3	4	80	1	0	0	0	0	1	0	0	0	10834	971	34	5	449	5	ODZ1	23	123514832	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	977464	123514832	31755728	1212	55154											
IGSF1	3547	broad.mit.edu	37	chrX	130417039	130417039	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaggtaatgtccagtatcTtggatcttcaaagactggaa	10	7	3	2			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:130417039T>C	uc004ewd.2	-	6	1105	c.867A>G	c.(865-867)CAA>CAG	p.Q289Q	IGSF1_uc004ewe.3_Silent_p.Q278Q|IGSF1_uc004ewf.2_Silent_p.Q269Q	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	289	Ig-like C2-type 3.|Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						GTCCAGTATCTTGGATCTTCA	0.398													C	130417039	T	C	130417039	2	2	80	1	0	0	0	0	0	0	0	1	7596	1606	56	3		3	IGSF1	23	130417039	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	6902207	130417039	24853521	1213	55155											
GPC4	2239	broad.mit.edu	37	chrX	132439923	132439923	+	Frame_Shift_Del	DEL	G	G	-													cgtccagctgggaggggcttGgggggtccacatccctggaa							TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:132439922_132439922TG>T	uc004exc.1	-	5	1245	c.1033_1033CA>A	c.(1033-1035)aagfs	p.K345fs	GPC4_uc011mvg.1_Frame_Shift_Del_p.K275fs	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	345					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.K345fs*49(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GGGAGGGGCTTGGGGGGTCCA	0.592													-	132439923	G	-	132439923	7	5	80	1	0	1	0	1	0	0	0	0	6600	1335	47	0	654	0	GPC4	23	132439923	Frame_Shift_Del	DEL	G	TCGA-BR-8368-01A-11D-2340-08	2022884	132439923	22830637	1214	55156											
GPR112	139378	broad.mit.edu	37	chrX	135430010	135430010	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgtgtcctgaaaaggaaaGcacgagtgcccttccagcat	10	10	0	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:135430010G>T	uc004ezu.1	+	6	4436	c.4145G>T	c.(4144-4146)AGC>ATC	p.S1382I	GPR112_uc010nsb.1_Missense_Mutation_p.S1177I|GPR112_uc010nsc.1_Missense_Mutation_p.S1149I	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1382	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					GAAAAGGAAAGCACGAGTGCC	0.453													T	135430010	G	T	135430010	3	4	80	1	0	0	0	0	1	0	0	0	6629	971	34	5	4155	5	GPR112	23	135430010	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2990087	135430010	19840550	1215	55157											
GPR101	83550	broad.mit.edu	37	chrX	136113044	136113044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctcaccttcatgctggcGgcgaaactcactctcatcct	7	16	4	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:136113044G>A	uc011mwh.1	-	1	790	c.790C>T	c.(790-792)CGC>TGC	p.R264C		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	264	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					TCATGCTGGCGGCGAAACTCA	0.562													A	136113044	G	A	136113044	3	1	80	1	0	0	0	0	1	0	0	0	6622	1116	39	1	739	1	GPR101	23	136113044	Missense_Mutation	SNP	G	TCGA-BR-8368-01A-11D-2340-08	683034	136113044	19157516	1216	55158											
SLITRK2	84631	broad.mit.edu	37	chrX	144906227	144906227	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtatcaaaatattgctgagCgagtcaaggaacttcccagc	9	9	2	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:144906227C>T	uc004fcd.2	+	5	3274	c.2284C>T	c.(2284-2286)CGA>TGA	p.R762*	SLITRK2_uc010nsp.2_Nonsense_Mutation_p.R762*|SLITRK2_uc010nso.2_Nonsense_Mutation_p.R762*|SLITRK2_uc011mwq.1_Nonsense_Mutation_p.R762*|SLITRK2_uc011mwr.1_Nonsense_Mutation_p.R762*|SLITRK2_uc011mws.1_Nonsense_Mutation_p.R762*|SLITRK2_uc004fcg.2_Nonsense_Mutation_p.R762*|SLITRK2_uc011mwt.1_Nonsense_Mutation_p.R762*|CXorf1_uc004fch.2_5'Flank	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	762	Cytoplasmic (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					TATTGCTGAGCGAGTCAAGGA	0.493													T	144906227	C	T	144906227	4	4	80	1	0	0	0	0	0	1	0	0	14743	760	27	1	2286	1	SLITRK2	23	144906227	Nonsense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	8793183	144906227	10364333	1217	55159											
FMR1	2332	broad.mit.edu	37	chrX	147009866	147009866	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagagcaaatgaaaaagaGccttgctgttggtggttagc	12	7	0	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:147009866G>A	uc010nst.2	+	4	414	c.225G>A	c.(223-225)GAG>GAA	p.E75E	FMR1_uc011mwz.1_Silent_p.E75E|FMR1_uc004fcj.2_Silent_p.E75E|FMR1_uc004fck.3_Silent_p.E75E|FMR1_uc004fcl.3_5'UTR|FMR1_uc011mxa.1_5'Flank	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	75					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAAAAAGAGCCTTGCTGTT	0.313									Fragile_X_syndrome				A	147009866	G	A	147009866	2	1	80	1	0	0	0	0	0	0	0	1	5960	962	34	2		2	FMR1	23	147009866	Silent	SNP	G	TCGA-BR-8368-01A-11D-2340-08	2103639	147009866	8260694	1218	55160											
GPR50	9248	broad.mit.edu	37	chrX	150345310	150345310	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcgcgatggttatcaccatCgttgtagacctaatcggcaa	10	10	1	1			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:150345310C>T	uc010ntg.1	+	1	252	c.117C>T	c.(115-117)ATC>ATT	p.I39I	uc004fes.1_RNA|GPR50_uc011myc.1_Silent_p.I39I	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	39	Helical; Name=1; (Potential).				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TTATCACCATCGTTGTAGACC	0.512													T	150345310	C	T	150345310	2	4	80	1	0	0	0	0	0	0	0	1	6697	874	31	1		1	GPR50	23	150345310	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3335444	150345310	4925250	1219	55161											
GPR50	9248	broad.mit.edu	37	chrX	150349306	150349306	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaggctgcctctggtcaCctcaagcctgtctctggcca	9	16	4	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:150349306C>T	uc010ntg.1	+	2	1386	c.1251C>T	c.(1249-1251)CAC>CAT	p.H417H	uc004fes.1_5'Flank	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	417	Cytoplasmic (Potential).|Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTGGTCACCTCAAGCCTG	0.572													T	150349306	C	T	150349306	2	4	80	1	0	0	0	0	0	0	0	1	6697	506	18	4		4	GPR50	23	150349306	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	3996	150349306	4921254	1220	55162											
PLXNB3	5365	broad.mit.edu	37	chrX	153033730	153033730	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgagtcgtacccctgtggCgacgagcacacccccagccc	10	20	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:153033730C>T	uc004fii.2	+	4	1287	c.1113C>T	c.(1111-1113)GGC>GGT	p.G371G	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.1_Silent_p.G53G|PLXNB3_uc010nuk.2_Silent_p.G394G|PLXNB3_uc011mzd.1_Silent_p.G10G	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	371	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCCCTGTGGCGACGAGCACA	0.687													T	153033730	C	T	153033730	2	4	80	1	0	0	0	0	0	0	0	1	12125	755	27	1		1	PLXNB3	23	153033730	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	2684424	153033730	2236830	1221	55163											
PLXNB3	5365	broad.mit.edu	37	chrX	153040511	153040511	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgccactgtgcgccagggcCtcacgcagctctccaacctg	11	17	2	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:153040511C>G	uc004fii.2	+	24	4282	c.4108C>G	c.(4108-4110)CTC>GTC	p.L1370V	PLXNB3_uc010nuk.2_Missense_Mutation_p.L1393V|PLXNB3_uc011mzd.1_Missense_Mutation_p.L1009V|PLXNB3_uc004fij.1_RNA|SRPK3_uc004fik.2_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1370	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGCCAGGGCCTCACGCAGCT	0.697													G	153040511	C	G	153040511	3	3	80	1	0	0	0	0	1	0	0	0	12125	681	24	5	4316	5	PLXNB3	23	153040511	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	6781	153040511	2230049	1222	55164											
HCFC1	3054	broad.mit.edu	37	chrX	153217121	153217121	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggctggccaccacaacCggctggggggccacaaatgt	15	13	0	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:153217121C>T	uc004fjp.2	-	21	5826	c.5298G>A	c.(5296-5298)CCG>CCA	p.P1766P		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1766					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCACCACAACCGGCTGGGGGG	0.617													T	153217121	C	T	153217121	2	4	80	1	0	0	0	0	0	0	0	1	6991	639	23	1		1	HCFC1	23	153217121	Silent	SNP	C	TCGA-BR-8368-01A-11D-2340-08	176610	153217121	2053439	1223	55165											
FLNA	2316	broad.mit.edu	37	chrX	153593586	153593586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaatactcgaagccatacaCgccatcccccaggtccttct	6	16	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:153593586C>T	uc004fkk.2	-	11	1858	c.1609G>A	c.(1609-1611)GTG>ATG	p.V537M	FLNA_uc010nuu.1_Missense_Mutation_p.V537M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	537	Filamin 3.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGCCATACACGCCATCCCCC	0.637													T	153593586	C	T	153593586	3	4	80	1	0	0	0	0	1	0	0	0	5933	536	19	1	6486	1	FLNA	23	153593586	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	376465	153593586	1676974	1224	55166											
FLNA	2316	broad.mit.edu	37	chrX	153599571	153599571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgccgccgcccggagccgCgcctgctgcgctctggcccg	15	20	1	0			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:153599571C>T	uc004fkk.2	-	2	292	c.43G>A	c.(43-45)GCG>ACG	p.A15T	FLNA_uc010nuu.1_Missense_Mutation_p.A15T	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	15	Actin-binding.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCGGAGCCGCGCCTGCTGCG	0.721													T	153599571	C	T	153599571	3	4	80	1	0	0	0	0	1	0	0	0	5933	768	27	1	8088	1	FLNA	23	153599571	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	5985	153599571	1670989	1225	55167											
FUNDC2	65991	broad.mit.edu	37	chrX	154280049	154280049	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtaagagcaatcagataccTactgaggtcaggagcaaagc	11	9	2	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:154280049T>C	uc004fmw.2	+	4	615	c.465T>C	c.(463-465)CCT>CCC	p.P155P		NM_023934	NP_076423	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	155						mitochondrion					0	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATCAGATACCTACTGAGGTCA	0.463													C	154280049	T	C	154280049	2	2	80	1	0	0	0	0	0	0	0	1	6098	1509	53	3		3	FUNDC2	23	154280049	Silent	SNP	T	TCGA-BR-8368-01A-11D-2340-08	680478	154280049	990511	1226	55168											
BRCC3	79184	broad.mit.edu	37	chrX	154348417	154348417	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttatgcaagaactttcttctCtagaataaatcaggagacaa	6	7	3	3			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:154348417C>G	uc004fna.2	+	11	1036	c.943C>G	c.(943-945)CTA>GTA	p.L315V	BRCC3_uc004fnb.2_Missense_Mutation_p.L290V	NM_024332	NP_077308	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	315					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(3)|ovary(1)|large_intestine(1)|breast(1)	6	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACTTTCTTCTCTAGAATAAAT	0.403													G	154348417	C	G	154348417	3	3	80	1	0	0	0	0	1	0	0	0	1500	912	32	5	985	5	BRCC3	23	154348417	Missense_Mutation	SNP	C	TCGA-BR-8368-01A-11D-2340-08	68368	154348417	922143	1227	55169											
CELA3A	10136	broad.mit.edu	37	chr1	22329534	22329534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctctcactcttccagcCgcgttgtccatggtgaggat	9	14	2	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:22329534C>T	uc001bfl.2	+	2	101	c.82C>T	c.(82-84)CGC>TGC	p.R28C	CELA3B_uc009vqf.2_Intron	NM_005747	NP_005738	P09093	CEL3A_HUMAN	elastase 3A, pancreatic preproprotein	28					cholesterol metabolic process|digestion|proteolysis		serine-type endopeptidase activity			haematopoietic_and_lymphoid_tissue(1)	1						CTCTTCCAGCCGCGTTGTCCA	0.572													T	22329534	C	T	22329534	3	4	81	1	0	0	0	0	1	0	0	0	3213	652	23	1	88	1	CELA3A	1	22329534	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08		22329534	226921087	1	55170											
MACF1	23499	broad.mit.edu	37	chr1	39801222	39801222	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagaagaaagtatcagaAcatgcaaaccagcatttctt	7	7	2	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:39801222A>G	uc010oiu.1	+	1	4413	c.4282A>G	c.(4282-4284)ACA>GCA	p.T1428A	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	2993					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGTATCAGAACATGCAAACC	0.428													G	39801222	A	G	39801222	3	3	81	1	0	0	0	0	1	0	0	0	9144	43	2	3	9053	3	MACF1	1	39801222	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	17471688	39801222	209449399	2	55171											
C1orf175	374977	broad.mit.edu	37	chr1	55145625	55145625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccaggagcctcgggcccGccaggtggccctgctgcccg	14	18	0	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:55145625G>A	uc010ooe.1	+	13	2612	c.2288G>A	c.(2287-2289)CGC>CAC	p.R763H	C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.R331H|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.R281H|C1orf175_uc010oof.1_Intron|C1orf175_uc001cxr.1_Intron|C1orf175_uc010oog.1_Missense_Mutation_p.R763H|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_5'Flank	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	763						integral to membrane	binding				0						CCTCGGGCCCGCCAGGTGGCC	0.637													A	55145625	G	A	55145625	3	1	81	1	0	0	0	0	1	0	0	0	2016	1087	38	1	2330	1	C1orf175	1	55145625	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	15344403	55145625	194104996	3	55172											
LRRC7	57554	broad.mit.edu	37	chr1	70587464	70587464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatttgtgtatttacaggCaaatggacacagttttgtac	8	5	0	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:70587464C>T	uc001dep.2	+	25	4538	c.4508C>T	c.(4507-4509)GCA>GTA	p.A1503V	LRRC7_uc009wbg.2_Missense_Mutation_p.A787V|LRRC7_uc001deq.2_Missense_Mutation_p.A697V	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1503	PDZ.					centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TATTTACAGGCAAATGGACAC	0.348													T	70587464	C	T	70587464	3	4	81	1	0	0	0	0	1	0	0	0	9020	724	25	2	4606	2	LRRC7	1	70587464	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	15441839	70587464	178663157	4	55173											
COL11A1	1301	broad.mit.edu	37	chr1	103343634	103343634	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctgattctgatcaccaaAgtcattgatcatgacatcaa	5	10	6	4			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:103343634A>C	uc001dul.2	-	67	5680	c.5362T>G	c.(5362-5364)TTT>GTT	p.F1788V	COL11A1_uc001duk.2_Missense_Mutation_p.F984V|COL11A1_uc001dum.2_Missense_Mutation_p.F1800V|COL11A1_uc001dun.2_Missense_Mutation_p.F1749V|COL11A1_uc009weh.2_Missense_Mutation_p.F1672V	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1788	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGATCACCAAAGTCATTGATC	0.328													C	103343634	A	C	103343634	3	2	81	1	0	0	0	0	1	0	0	0	3667	72	3	5	62	5	COL11A1	1	103343634	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	32756170	103343634	145906987	5	55174											
KCNA3	3738	broad.mit.edu	37	chr1	111217049	111217049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttggggtcgcccagcagcGtctcggggaactggcaaagg	17	11	1	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:111217049G>A	uc001dzv.1	-	1	607	c.383C>T	c.(382-384)ACG>ATG	p.T128M		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	128						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCAGCAGCGTCTCGGGGAA	0.662													A	111217049	G	A	111217049	3	1	81	1	0	0	0	0	1	0	0	0	8004	1145	40	1	1348	1	KCNA3	1	111217049	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	7873415	111217049	138033572	6	55175											
PEX11B	8799	broad.mit.edu	37	chr1	145517343	145517343	+	Frame_Shift_Del	DEL	A	A	-													gagccagtcctgagttacagAaacagattcgacaactggag							TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:145517342_145517342GA>G	uc001eny.2	+	1	362	c.126_126GA>G	c.(124-126)cagfs	p.Q42fs	GNRHR2_uc009wiv.2_5'Flank|GNRHR2_uc010oyt.1_5'Flank|GNRHR2_uc001enx.3_5'Flank|PEX11B_uc010oyu.2_Frame_Shift_Del_p.Q28fs	NM_003846	NP_003837	O96011	PX11B_HUMAN	Homo sapiens peroxisomal biogenesis factor 11 beta (PEX11B), transcript variant 1, mRNA.	42					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGAGTTACAGAAACAGATTC	0.542													-	145517343	A	-	145517343	7	5	81	1	0	1	0	1	0	0	0	0	11738	247	9	0	151	0	PEX11B	1	145517343	Frame_Shift_Del	DEL	A	TCGA-BR-8369-01A-11D-2340-08	34300294	145517343	103733278	7	55176											
ITGA10	8515	broad.mit.edu	37	chr1	145537443	145537443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaggccccatttgtggttcGaggtggccggcggaaagtgc	17	9	0	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:145537443G>A	uc001eoa.2	+	20	2529	c.2453G>A	c.(2452-2454)CGA>CAA	p.R818Q	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.R687Q|ITGA10_uc009wiw.2_Missense_Mutation_p.R675Q|ITGA10_uc010oyw.1_Missense_Mutation_p.R763Q	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	818	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTTGTGGTTCGAGGTGGCCGG	0.488													A	145537443	G	A	145537443	3	1	81	1	0	0	0	0	1	0	0	0	7873	1058	37	1	2531	1	ITGA10	1	145537443	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	20100	145537443	103713178	8	55177											
CD1A	909	broad.mit.edu	37	chr1	158227231	158227231	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcatcacagttccgtgggcTtcatcatcttggcggtgata	11	10	4	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:158227231T>G	uc001frt.2	+	5	1437	c.904T>G	c.(904-906)TTC>GTC	p.F302V		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	302	Helical; (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TTCCGTGGGCTTCATCATCTT	0.438													G	158227231	T	G	158227231	3	3	81	1	0	0	0	0	1	0	0	0	2974	1609	56	5	922	5	CD1A	1	158227231	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	12689788	158227231	91023390	9	55178											
OR10Z1	128368	broad.mit.edu	37	chr1	158576540	158576540	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccagatgttcttttcTgcctcatgggcctgtactaa	9	12	3	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:158576540T>C	uc010pio.1	+	1	312	c.312T>C	c.(310-312)TCT>TCC	p.S104S		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	104	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					TGTTCTTTTCTGCCTCATGGG	0.552													C	158576540	T	C	158576540	2	2	81	1	0	0	0	0	0	0	0	1	10923	1567	55	3		3	OR10Z1	1	158576540	Silent	SNP	T	TCGA-BR-8369-01A-11D-2340-08	349309	158576540	90674081	10	55179											
OR6K2	81448	broad.mit.edu	37	chr1	158670422	158670422	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagataaactcctgaatggtGgttcgattggggctctccat	11	8	1	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:158670422G>T	uc001fsu.1	-	1	21	c.21C>A	c.(19-21)ACC>ACA	p.T7T		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	7	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					CCTGAATGGTGGTTCGATTGG	0.433													T	158670422	G	T	158670422	2	4	81	1	0	0	0	0	0	0	0	1	11202	1335	47	5		5	OR6K2	1	158670422	Silent	SNP	G	TCGA-BR-8369-01A-11D-2340-08	93882	158670422	90580199	11	55180											
DDR2	4921	broad.mit.edu	37	chr1	162725000	162725000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctaaaggacttggagccgCccattgtagccagatttgtc	10	11	0	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:162725000C>T	uc001gcf.2	+	7	937	c.472C>T	c.(472-474)CCC>TCC	p.P158S	DDR2_uc001gcg.2_Missense_Mutation_p.P158S	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	158	Extracellular (Potential).|F5/8 type C.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CTTGGAGCCGCCCATTGTAGC	0.478													T	162725000	C	T	162725000	3	4	81	1	0	0	0	0	1	0	0	0	4337	739	26	2	486	2	DDR2	1	162725000	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	4054578	162725000	86525621	12	55181											
F5	2153	broad.mit.edu	37	chr1	169510379	169510379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagaaatgggcatctgacCgagggctggggaaaggtttg	18	5	1	2	rs149048805		TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:169510379C>T	uc001ggg.1	-	13	4094	c.3949G>A	c.(3949-3951)GGT>AGT	p.G1317S		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1317	B.|2-15.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGCATCTGACCGAGGGCTGGG	0.498													T	169510379	C	T	169510379	3	4	81	1	0	0	0	0	1	0	0	0	5348	652	23	1	2777	1	F5	1	169510379	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	6785379	169510379	79740242	13	55182											
TNR	7143	broad.mit.edu	37	chr1	175325573	175325573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaattcctcactgactccGtcaacaaggatggtctctcc	7	14	3	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:175325573G>A	uc001gkp.1	-	14	3081	c.3000C>T	c.(2998-3000)GAC>GAT	p.D1000D	TNR_uc009wwu.1_Silent_p.D1000D	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1000	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					CACTGACTCCGTCAACAAGGA	0.463													A	175325573	G	A	175325573	2	1	81	1	0	0	0	0	0	0	0	1	16335	1136	40	1		1	TNR	1	175325573	Silent	SNP	G	TCGA-BR-8369-01A-11D-2340-08	5815194	175325573	73925048	14	55183											
KIAA1614	57710	broad.mit.edu	37	chr1	180886990	180886990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgttctggatcctagagcGaccagtgggggatgtggact	15	8	2	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:180886990G>A	uc001gok.2	+	3	1068	c.1001G>A	c.(1000-1002)CGA>CAA	p.R334Q		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	334										ovary(3)|skin(1)	4						ATCCTAGAGCGACCAGTGGGG	0.567													A	180886990	G	A	180886990	3	1	81	1	0	0	0	0	1	0	0	0	8248	1058	37	1	1011	1	KIAA1614	1	180886990	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	5561417	180886990	68363631	15	55184											
F13B	2165	broad.mit.edu	37	chr1	197026303	197026303	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttcaatgaagggtggttcCtcacaggctaccttctcctg	9	11	3	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:197026303C>A	uc001gtt.1	-	7	1055	c.1011G>T	c.(1009-1011)GAG>GAT	p.E337D		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	337	Sushi 6.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						AGGGTGGTTCCTCACAGGCTA	0.398													A	197026303	C	A	197026303	3	1	81	1	0	0	0	0	1	0	0	0	5341	680	24	5	998	5	F13B	1	197026303	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	16139313	197026303	52224318	16	55185											
FAM58B	339521	broad.mit.edu	37	chr1	200183190	200183190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaactgccacagctggcagCggacccccgttgccgtcact	11	16	1	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:200183190C>T	uc009wzi.1	+	1	535	c.499C>T	c.(499-501)CGG>TGG	p.R167W		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	family with sequence similarity 58 member B	167					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding				0	Prostate(682;0.19)					CAGCTGGCAGCGGACCCCCGT	0.627													T	200183190	C	T	200183190	3	4	81	1	0	0	0	0	1	0	0	0	5591	759	27	1	501	1	FAM58B	1	200183190	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	3156887	200183190	49067431	17	55186											
CACNA1S	779	broad.mit.edu	37	chr1	201017715	201017715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggcactctcaccttccGtcttgatcttgagtgccgtg	11	12	3	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:201017715G>A	uc001gvv.2	-	36	4663	c.4436C>T	c.(4435-4437)ACG>ATG	p.T1479M		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1479	Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTCACCTTCCGTCTTGATCTT	0.557													A	201017715	G	A	201017715	3	1	81	1	0	0	0	0	1	0	0	0	2547	1145	40	1	1221	1	CACNA1S	1	201017715	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	834525	201017715	48232906	18	55187											
TNNI1	7135	broad.mit.edu	37	chr1	201382217	201382217	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatcgctcctcatccaccacCtccaccttggcgtgcagctc	6	19	1	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:201382217C>A	uc010ppq.1	-	6	315	c.222G>T	c.(220-222)GAG>GAT	p.E74D	TNNI1_uc001gwo.1_RNA|TNNI1_uc001gwp.2_Missense_Mutation_p.E53D	NM_003281	NP_003272	P19237	TNNI1_HUMAN	troponin I, skeletal, slow	74					muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding				0						CATCCACCACCTCCACCTTGG	0.582													A	201382217	C	A	201382217	3	1	81	1	0	0	0	0	1	0	0	0	16323	680	24	5	353	5	TNNI1	1	201382217	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	364502	201382217	47868404	19	55188											
NAV1	89796	broad.mit.edu	37	chr1	201786280	201786280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggacacacttccctggcCatcagcccaacaagaccaat	7	17	1	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:201786280C>T	uc001gwu.2	+	28	5743	c.5396C>T	c.(5395-5397)CCA>CTA	p.P1799L	NAV1_uc001gwx.2_Missense_Mutation_p.P1408L	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1802					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						CTTCCCTGGCCATCAGCCCAA	0.557													T	201786280	C	T	201786280	3	4	81	1	0	0	0	0	1	0	0	0	10183	594	21	4	5576	4	NAV1	1	201786280	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	404063	201786280	47464341	20	55189											
NFASC	23114	broad.mit.edu	37	chr1	204978710	204978710	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accaacaaccaagcggacatCgccacccagggctggttcat	9	15	1	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:204978710C>T	uc001hbj.2	+	28	3643	c.3315C>T	c.(3313-3315)ATC>ATT	p.I1105I	NFASC_uc010pra.1_Silent_p.I1039I|NFASC_uc001hbi.2_Silent_p.I1034I|NFASC_uc010prb.1_Silent_p.I1054I|NFASC_uc010prc.1_Silent_p.I605I|NFASC_uc001hbl.1_Silent_p.I181I|NFASC_uc001hbm.1_Silent_p.I128I|NFASC_uc009xbh.1_5'UTR	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	1212	Extracellular (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAGCGGACATCGCCACCCAGG	0.587													T	204978710	C	T	204978710	2	4	81	1	0	0	0	0	0	0	0	1	10359	874	31	1		1	NFASC	1	204978710	Silent	SNP	C	TCGA-BR-8369-01A-11D-2340-08	3192430	204978710	44271911	21	55190											
ANGEL2	90806	broad.mit.edu	37	chr1	213181648	213181648	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctataaaggtgagagttAtcttccagtaaatcttgtga	9	5	3	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:213181648A>G	uc001hjz.2	-	3	701	c.546T>C	c.(544-546)GAT>GAC	p.D182D	ANGEL2_uc010pto.1_Silent_p.D56D|ANGEL2_uc010ptp.1_Silent_p.D56D|ANGEL2_uc001hka.2_Silent_p.D13D|ANGEL2_uc010ptq.1_RNA|ANGEL2_uc001hkb.2_Silent_p.D160D	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN	LOC90806 protein	182											0				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		GGTGAGAGTTATCTTCCAGTA	0.358													G	213181648	A	G	213181648	2	3	81	1	0	0	0	0	0	0	0	1	609	446	16	3		3	ANGEL2	1	213181648	Silent	SNP	A	TCGA-BR-8369-01A-11D-2340-08	8202938	213181648	36068973	22	55191											
RYR2	6262	broad.mit.edu	37	chr1	237604732	237604732	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacacaggcctatggcttacTtaccagtctgtggacgtgaa	11	10	1	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:237604732T>C	uc001hyl.1	+	13	1239	c.1119T>C	c.(1117-1119)ACT>ACC	p.T373T		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	373	Cytoplasmic (By similarity).|MIR 5.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATGGCTTACTTACCAGTCTG	0.363													C	237604732	T	C	237604732	2	2	81	1	0	0	0	0	0	0	0	1	13769	1596	56	3		3	RYR2	1	237604732	Silent	SNP	T	TCGA-BR-8369-01A-11D-2340-08	24423084	237604732	11645889	23	55192											
KCNS3	3790	broad.mit.edu	37	chr2	18113498	18113498	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcaccatcatcttcaacaAgttttccaagtactaccaga	3	13	4	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:18113498A>G	uc002rcv.2	+	3	1674	c.1223A>G	c.(1222-1224)AAG>AGG	p.K408R	KCNS3_uc002rcw.2_Missense_Mutation_p.K408R	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	408	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATCTTCAACAAGTTTTCCAAG	0.502													G	18113498	A	G	18113498	3	3	81	1	0	0	0	0	1	0	0	0	8090	72	3	3	1225	3	KCNS3	2	18113498	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08		18113498	225085875	24	55193											
APOB	338	broad.mit.edu	37	chr2	21226058	21226058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacataatcataaaggaccCctgtggccttgggcacgttg	11	10	1	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:21226058C>T	uc002red.2	-	29	12364	c.12236G>A	c.(12235-12237)GGG>GAG	p.G4079E		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4079					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATAAAGGACCCCTGTGGCCTT	0.473													T	21226058	C	T	21226058	3	4	81	1	0	0	0	0	1	0	0	0	785	623	22	4	1459	4	APOB	2	21226058	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	3112560	21226058	221973315	25	55194											
PLB1	151056	broad.mit.edu	37	chr2	28805000	28805004	+	Splice_Site	DEL	GGTAC	GGTAC	-													ctggacatcctccatgctgaGgtacggaggctaggccatga					rs146417418		TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:28804999_28805003AGGTAC>A	uc002rmb.2	+	24	1676	c.1632_splice	c.e24+1	p.E544_splice	PLB1_uc010ezj.2_Intron|PLB1_uc002rmc.3_Splice_Site_p.E232_splice|PLB1_uc002rmd.1_Splice_Site_p.E54_splice	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	544	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTCCATGCTGAGGTACGGAGGCTAG	0.537													-	28805004	GGTAC	-	28805000	8	5	81	1	0	1	0	1	0	0	1	0	12024	1014	35	0	1759	0	PLB1	2	28805000	Splice_Site	DEL	GGTAC	TCGA-BR-8369-01A-11D-2340-08	7578942	28805000	214394373	26	55195											
C2orf71	388939	broad.mit.edu	37	chr2	29297042	29297042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgccctgacatcctggcCgaattgctttgggctttttc	9	13	0	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:29297042C>T	uc002rmt.1	-	1	86	c.86G>A	c.(85-87)CGG>CAG	p.R29Q		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	29					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						ACATCCTGGCCGAATTGCTTT	0.512													T	29297042	C	T	29297042	3	4	81	1	0	0	0	0	1	0	0	0	2191	652	23	1	3788	1	C2orf71	2	29297042	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	492042	29297042	213902331	27	55196											
PIGF	5281	broad.mit.edu	37	chr2	46842221	46842221	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaagttctccaagaagagtGatggaatgaagacacttagg	12	5	1	6			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:46842221G>A	uc002rvd.2	-	2	247	c.83C>T	c.(82-84)TCA>TTA	p.S28L	PIGF_uc002rvc.2_Missense_Mutation_p.S28L|CRIPT_uc002rve.2_5'Flank	NM_002643	NP_002634	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	28	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CAAGAAGAGTGATGGAATGAA	0.353													A	46842221	G	A	46842221	3	1	81	1	0	0	0	0	1	0	0	0	11887	1294	45	4	675	4	PIGF	2	46842221	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	17545179	46842221	196357152	28	55197											
PROKR1	10887	broad.mit.edu	37	chr2	68882618	68882618	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctccactggaaggcttcTtacaatggcggtaagtccag	11	10	1	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:68882618T>G	uc010yqj.1	+	2	1092	c.1092T>G	c.(1090-1092)TCT>TCG	p.S364S	PROKR1_uc002ses.2_RNA	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	364	Cytoplasmic (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1						GGAAGGCTTCTTACAATGGCG	0.502													G	68882618	T	G	68882618	2	3	81	1	0	0	0	0	0	0	0	1	12552	1596	56	5		5	PROKR1	2	68882618	Silent	SNP	T	TCGA-BR-8369-01A-11D-2340-08	22040397	68882618	174316755	29	55198											
ANTXR1	84168	broad.mit.edu	37	chr2	69297834	69297834	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagttctgccaggaggagacActtacatgcatgaaggattt	11	7	1	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:69297834A>C	uc002sfg.2	+	4	708	c.352A>C	c.(352-354)ACT>CCT	p.T118P	ANTXR1_uc002sfe.2_Missense_Mutation_p.T118P|ANTXR1_uc002sff.2_Missense_Mutation_p.T118P|ANTXR1_uc002sfd.2_Missense_Mutation_p.T118P	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	118	Extracellular (Potential).|VWFA.	Divalent metal cation (By similarity).			actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4						AGGAGGAGACACTTACATGCA	0.353									Familial_Infantile_Hemangioma				C	69297834	A	C	69297834	3	2	81	1	0	0	0	0	1	0	0	0	711	159	6	5	366	5	ANTXR1	2	69297834	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	415216	69297834	173901539	30	55199											
ST6GAL2	84620	broad.mit.edu	37	chr2	107446605	107446605	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagagctgccatataaatTtaggatgaagaatgtaaaat	8	6	0	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:107446605T>G	uc002tdq.2	-	5	1354	c.1235A>C	c.(1234-1236)AAA>ACA	p.K412T	ST6GAL2_uc002tdr.2_Missense_Mutation_p.K412T|ST6GAL2_uc002tds.3_Missense_Mutation_p.K412T	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	412	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						CCATATAAATTTAGGATGAAG	0.378													G	107446605	T	G	107446605	3	3	81	1	0	0	0	0	1	0	0	0	15221	1841	64	5	449	5	ST6GAL2	2	107446605	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	38148771	107446605	135752768	31	55200											
MARCO	8685	broad.mit.edu	37	chr2	119699881	119699881	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctataaagcttggcaatgaGaaataagaaaattctcaagg	8	5	2	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:119699881G>A	uc002tln.1	+	1	137	c.5G>A	c.(4-6)AGA>AAA	p.R2K	MARCO_uc010yyf.1_5'UTR	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	2	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|skin(2)|central_nervous_system(1)	6						TTGGCAATGAGAAATAAGAAA	0.453													A	119699881	G	A	119699881	3	1	81	1	0	0	0	0	1	0	0	0	9311	942	33	4	7	4	MARCO	2	119699881	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	12253276	119699881	123499492	32	55201											
NCKAP5	344148	broad.mit.edu	37	chr2	133542677	133542677	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgagagccatgcggccatgGccttggccctgtgggcccct	14	14	0	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:133542677G>T	uc002ttp.2	-	14	2081	c.1707C>A	c.(1705-1707)GGC>GGA	p.G569G	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	569							protein binding				0						TGCGGCCATGGCCTTGGCCCT	0.547													T	133542677	G	T	133542677	2	4	81	1	0	0	0	0	0	0	0	1	10223	1190	42	5		5	NCKAP5	2	133542677	Silent	SNP	G	TCGA-BR-8369-01A-11D-2340-08	13842796	133542677	109656696	33	55202											
LRP1B	53353	broad.mit.edu	37	chr2	141081582	141081582	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatacaccatttttaggtcCtgctccatatatataatctt	3	9	1	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:141081582C>A	uc002tvj.1	-	81	13366	c.12394G>T	c.(12394-12396)GGA>TGA	p.G4132*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4132	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTTAGGTCCTGCTCCATAT	0.299										TSP Lung(27;0.18)			A	141081582	C	A	141081582	4	1	81	1	0	0	0	0	0	1	0	0	8955	690	24	5	1449	5	LRP1B	2	141081582	Nonsense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	7538905	141081582	102117791	34	55203											
LRP1B	53353	broad.mit.edu	37	chr2	141806706	141806706	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctatggggatcatgtattcAtcagctatcttggtattcaa	8	7	6	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:141806706A>C	uc002tvj.1	-	11	2610	c.1638T>G	c.(1636-1638)GAT>GAG	p.D546E	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	546	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATGTATTCATCAGCTATCT	0.418										TSP Lung(27;0.18)			C	141806706	A	C	141806706	3	2	81	1	0	0	0	0	1	0	0	0	8955	214	8	5	12485	5	LRP1B	2	141806706	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	725124	141806706	101392667	35	55204											
BAZ2B	29994	broad.mit.edu	37	chr2	160206502	160206505	+	Frame_Shift_Del	DEL	TTAT	TTAT	-													ttgaaccagtattaaacagaTtattagagtctgccttttcc							TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:160206501_160206504ATTAT>A	uc002uao.3	-	27	4983_4986	c.4578_4581ATAAT>T	c.(4576-4581)aataatfs	p.N1526fs	BAZ2B_uc002uap.3_Frame_Shift_Del_p.N1490fs	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TATTAAACAGATTATTAGAGTCTG	0.426													-	160206505	TTAT	-	160206502	7	5	81	1	0	1	0	1	0	0	0	0	1332	1493	52	0	1966	0	BAZ2B	2	160206502	Frame_Shift_Del	DEL	TTAT	TCGA-BR-8369-01A-11D-2340-08	18399796	160206502	82992871	36	55205											
TBR1	10716	broad.mit.edu	37	chr2	162275557	162275557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcaccgcctaccagaacaCggatgtaaggagacctaggg	12	12	1	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:162275557C>T	uc002ubw.1	+	4	1426	c.1124C>T	c.(1123-1125)ACG>ATG	p.T375M	TBR1_uc010foy.2_Missense_Mutation_p.T88M	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	375	T-box.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						TACCAGAACACGGATGTAAGG	0.627													T	162275557	C	T	162275557	3	4	81	1	0	0	0	0	1	0	0	0	15644	536	19	1	1138	1	TBR1	2	162275557	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	2069055	162275557	80923816	37	55206											
TTN	7273	broad.mit.edu	37	chr2	179427323	179427323	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctggcaaaccaatcccatAttcattggaagccaagactc	7	12	1	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:179427323A>G	uc010zfg.1	-	275	76056	c.75832T>C	c.(75832-75834)TAT>CAT	p.Y25278H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y18973H|TTN_uc010zfi.1_Missense_Mutation_p.Y18906H|TTN_uc010zfj.1_Missense_Mutation_p.Y18781H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26205							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAATCCCATATTCATTGGAA	0.408													G	179427323	A	G	179427323	3	3	81	1	0	0	0	0	1	0	0	0	16732	449	16	3	24591	3	TTN	2	179427323	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	17151766	179427323	63772050	38	55207											
CALCRL	10203	broad.mit.edu	37	chr2	188211006	188211006	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggacagtcatgactataacCtggaccatcactgattgttg	9	9	2	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:188211006C>A	uc002upv.3	-	15	1839	c.1291G>T	c.(1291-1293)GGT>TGT	p.G431C	CALCRL_uc010frt.2_Missense_Mutation_p.G431C	NM_005795	NP_005786	Q16602	CALRL_HUMAN	calcitonin receptor-like precursor	431	Cytoplasmic (Potential).					integral to plasma membrane				lung(3)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TGACTATAACCTGGACCATCA	0.338													A	188211006	C	A	188211006	3	1	81	1	0	0	0	0	1	0	0	0	2580	681	24	5	98	5	CALCRL	2	188211006	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	8783683	188211006	54988367	39	55208											
MAP2	4133	broad.mit.edu	37	chr2	210561456	210561456	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacagtctccagagatgaAgtgagaaggaaaaaaggttc	12	6	1	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:210561456A>C	uc002vde.1	+	8	4619	c.4371A>C	c.(4369-4371)GAA>GAC	p.E1457D	MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.E1453D	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1457	Calmodulin-binding (Potential).				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CCAGAGATGAAGTGAGAAGGA	0.343													C	210561456	A	C	210561456	3	2	81	1	0	0	0	0	1	0	0	0	9235	69	3	5	4389	5	MAP2	2	210561456	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	22350450	210561456	32637917	40	55209											
FAM124B	79843	broad.mit.edu	37	chr2	225266233	225266233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctggagagagtccaggaCgcgaaatagcctatcctctc	11	11	1	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:225266233C>T	uc002vnx.2	-	1	479	c.253G>A	c.(253-255)GTC>ATC	p.V85I	FAM124B_uc002vnw.2_Missense_Mutation_p.V85I	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	hypothetical protein LOC79843 isoform a	85							protein binding			ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		GAGTCCAGGACGCGAAATAGC	0.552													T	225266233	C	T	225266233	3	4	81	1	0	0	0	0	1	0	0	0	5426	536	19	1	1213	1	FAM124B	2	225266233	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	14704777	225266233	17933140	41	55210											
PER2	8864	broad.mit.edu	37	chr2	239170935	239170935	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgtactctccgttccgggCgcgaaaccgaatgggagaat	13	10	1	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:239170935C>A	uc002vyc.2	-	11	1441	c.1204G>T	c.(1204-1206)GCC>TCC	p.A402S	PER2_uc010znv.1_Missense_Mutation_p.A402S|PER2_uc010znw.1_Missense_Mutation_p.A402S|PER2_uc010fyx.1_Missense_Mutation_p.R366L	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	402	PAC.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCGTTCCGGGCGCGAAACCGA	0.537													A	239170935	C	A	239170935	3	1	81	1	0	0	0	0	1	0	0	0	11730	768	27	5	2615	5	PER2	2	239170935	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	13904702	239170935	4028438	42	55211											
PPP1R7	5510	broad.mit.edu	37	chr2	242089932	242089932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcggcggaacgcggcgcgGggcagcaacagtcgcaggag	20	11	0	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:242089932G>A	uc002wat.1	+	1	37	c.22G>A	c.(22-24)GGG>AGG	p.G8R	PPP1R7_uc010fzm.1_Intron|PPP1R7_uc002war.2_Missense_Mutation_p.G8R|PPP1R7_uc002was.2_Missense_Mutation_p.G8R|PPP1R7_uc002wau.1_Missense_Mutation_p.G8R|PASK_uc002wao.1_5'Flank|PASK_uc010zom.1_5'Flank|PASK_uc010fzl.1_5'Flank|PASK_uc010zon.1_5'Flank|PASK_uc002waq.2_5'Flank	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	8						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			ovary(3)	3		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		ACGCGGCGCGGGGCAGCAACA	0.721													A	242089932	G	A	242089932	3	1	81	1	0	0	0	0	1	0	0	0	12376	1232	43	4	24	4	PPP1R7	2	242089932	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	2918997	242089932	1109441	43	55212											
CNTN6	27255	broad.mit.edu	37	chr3	1363393	1363393	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgttgccagggaaagtcaAgtacagcaaatcccaagcta	9	12	1	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:1363393A>G	uc003boz.2	+	8	1088	c.821A>G	c.(820-822)AAG>AGG	p.K274R	CNTN6_uc011asj.1_Missense_Mutation_p.K202R|CNTN6_uc003bpa.2_Missense_Mutation_p.K274R	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	274	Ig-like C2-type 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGGAAAGTCAAGTACAGCAAA	0.448													G	1363393	A	G	1363393	3	3	81	1	0	0	0	0	1	0	0	0	3645	72	3	3	847	3	CNTN6	3	1363393	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08		1363393	196659037	44	55213											
C3orf32	51066	broad.mit.edu	37	chr3	8673781	8673781	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttatcctggattcactaaaGgtctccagacggtactaaaa	7	10	2	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:8673781G>T	uc003bqu.2	-	5	534	c.288C>A	c.(286-288)ACC>ACA	p.T96T	C3orf32_uc003bqz.2_Silent_p.T96T|C3orf32_uc003bqt.2_Silent_p.T45T|C3orf32_uc011atg.1_Silent_p.T118T|C3orf32_uc003bqv.2_Silent_p.T45T|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_RNA|C3orf32_uc003bqy.2_Silent_p.T96T	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	hypothetical protein LOC51066	96										skin(1)	1						ATTCACTAAAGGTCTCCAGAC	0.423													T	8673781	G	T	8673781	2	4	81	1	0	0	0	0	0	0	0	1	2222	987	35	5		5	C3orf32	3	8673781	Silent	SNP	G	TCGA-BR-8369-01A-11D-2340-08	7310388	8673781	189348649	45	55214											
SRGAP3	9901	broad.mit.edu	37	chr3	9057396	9057396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatctcgttcattttgatcGtccacaagggggtcttcacc	8	11	4	1	rs141284390	byFrequency	TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:9057396G>A	uc003brf.1	-	15	2374	c.1698C>T	c.(1696-1698)GAC>GAT	p.D566D	SRGAP3_uc003brg.1_Silent_p.D542D|SRGAP3_uc003bri.1_RNA	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	566	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CATTTTGATCGTCCACAAGGG	0.448			T	RAF1	pilocytic astrocytoma								A	9057396	G	A	9057396	2	1	81	1	0	0	0	0	0	0	0	1	15146	1136	40	1		1	SRGAP3	3	9057396	Silent	SNP	G	TCGA-BR-8369-01A-11D-2340-08	383615	9057396	188965034	46	55215											
BRPF1	7862	broad.mit.edu	37	chr3	9781151	9781151	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgtggtgtgtgccttgtgGatccctgaggtctgcttcgc	14	10	1	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:9781151G>A	uc003bse.2	+	3	1467	c.1068G>A	c.(1066-1068)TGG>TGA	p.W356*	BRPF1_uc003bsf.2_Nonsense_Mutation_p.W356*|BRPF1_uc003bsg.2_Nonsense_Mutation_p.W356*|BRPF1_uc011ati.1_Nonsense_Mutation_p.W356*	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	356					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					GTGCCTTGTGGATCCCTGAGG	0.587													A	9781151	G	A	9781151	4	1	81	1	0	0	0	0	0	1	0	0	1520	1183	41	4	1074	4	BRPF1	3	9781151	Nonsense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	723755	9781151	188241279	47	55216											
IQSEC1	9922	broad.mit.edu	37	chr3	12983126	12983126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcggagagtgagcgtgagCgcttgatggcctcctcctca	13	12	2	4			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:12983126C>T	uc003bxt.2	-	2	314	c.305G>A	c.(304-306)CGC>CAC	p.R102H	IQSEC1_uc003bxu.3_5'UTR|IQSEC1_uc011auw.1_Missense_Mutation_p.R88H	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	102					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						TGAGCGTGAGCGCTTGATGGC	0.657													T	12983126	C	T	12983126	3	4	81	1	0	0	0	0	1	0	0	0	7817	768	27	1	3183	1	IQSEC1	3	12983126	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	3201975	12983126	185039304	48	55217											
RFTN1	23180	broad.mit.edu	37	chr3	16535246	16535246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaccagcactcagagtcGtgaactccaggaagcggtat	10	12	2	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:16535246G>A	uc003cay.2	-	2	413	c.131C>T	c.(130-132)ACG>ATG	p.T44M		NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	44						plasma membrane				ovary(3)|central_nervous_system(1)	4						ACTCAGAGTCGTGAACTCCAG	0.547													A	16535246	G	A	16535246	3	1	81	1	0	0	0	0	1	0	0	0	13258	1145	40	1	1641	1	RFTN1	3	16535246	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	3552120	16535246	181487184	49	55218											
TRIM71	131405	broad.mit.edu	37	chr3	32933115	32933115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctgtggaccaggaagggCgcatcattgtggcggattcc	15	9	1	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:32933115C>T	uc003cff.2	+	4	2482	c.2419C>T	c.(2419-2421)CGC>TGC	p.R807C		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	807	NHL 5.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						CCAGGAAGGGCGCATCATTGT	0.592													T	32933115	C	T	32933115	3	4	81	1	0	0	0	0	1	0	0	0	16541	768	27	1	2433	1	TRIM71	3	32933115	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	16397869	32933115	165089315	50	55219											
TRAK1	22906	broad.mit.edu	37	chr3	42244001	42244001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggagacggcgctgaggCggctgtccctgcgccgggag	18	13	0	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:42244001C>T	uc003cky.2	+	13	1717	c.1501C>T	c.(1501-1503)CGG>TGG	p.R501W	TRAK1_uc011azh.1_Missense_Mutation_p.R501W|TRAK1_uc011azi.1_Missense_Mutation_p.R501W|TRAK1_uc003ckz.3_Missense_Mutation_p.R427W|TRAK1_uc011azj.1_Missense_Mutation_p.R427W|TRAK1_uc003cla.2_Missense_Mutation_p.R443W	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	501	Interaction with HGS.|Potential.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						GGCGCTGAGGCGGCTGTCCCT	0.647													T	42244001	C	T	42244001	3	4	81	1	0	0	0	0	1	0	0	0	16446	759	27	1	1667	1	TRAK1	3	42244001	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	9310886	42244001	155778429	51	55220											
KBTBD5	131377	broad.mit.edu	37	chr3	42727916	42727916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccgcatcaccacgctgcGgaagaaaaagaaggggaagg	16	9	1	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:42727916G>A	uc003clv.1	+	1	906	c.806G>A	c.(805-807)CGG>CAG	p.R269Q		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	269										ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		ACCACGCTGCGGAAGAAAAAG	0.617													A	42727916	G	A	42727916	3	1	81	1	0	0	0	0	1	0	0	0	7996	1116	39	1	808	1	KBTBD5	3	42727916	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	483915	42727916	155294514	52	55221											
COL7A1	1294	broad.mit.edu	37	chr3	48608296	48608296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttcccagcccctcacccGctctccactagggcctggct	8	20	2	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:48608296G>A	uc003ctz.2	-	94	7271	c.7270C>T	c.(7270-7272)CGG>TGG	p.R2424W		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2424	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCCTCACCCGCTCTCCACTA	0.667													A	48608296	G	A	48608296	3	1	81	1	0	0	0	0	1	0	0	0	3704	1086	38	1	1664	1	COL7A1	3	48608296	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	5880380	48608296	149414134	53	55222											
BSN	8927	broad.mit.edu	37	chr3	49688122	49688122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagagccgacccccctgccGccgcccacctcacagcagcc	10	22	1	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:49688122G>A	uc003cxe.3	+	4	1710	c.1596G>A	c.(1594-1596)CCG>CCA	p.P532P		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	532					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCCCCTGCCGCCGCCCACCT	0.642													A	49688122	G	A	49688122	2	1	81	1	0	0	0	0	0	0	0	1	1530	1074	38	1		1	BSN	3	49688122	Silent	SNP	G	TCGA-BR-8369-01A-11D-2340-08	1079826	49688122	148334308	54	55223											
PRICKLE2	166336	broad.mit.edu	37	chr3	64133061	64133061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagtgacagggggtctaCgtcggctgacagccggttag	16	10	1	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:64133061C>T	uc003dmf.2	-	7	1691	c.1105G>A	c.(1105-1107)GTA>ATA	p.V369I		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	369						cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		AGGGGGTCTACGTCGGCTGAC	0.607													T	64133061	C	T	64133061	3	4	81	1	0	0	0	0	1	0	0	0	12487	536	19	1	1437	1	PRICKLE2	3	64133061	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	14444939	64133061	133889369	55	55224											
CNTN3	5067	broad.mit.edu	37	chr3	74316531	74316531	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggtggctgactgggagcTtgaaatgcaaaatgagaaat	13	6	0	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:74316531T>C	uc003dpm.1	-	20	2785	c.2705_splice	c.e20-1	p.P902_splice		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor						cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GACTGGGAGCTTGAAATGCAA	0.413													C	74316531	T	C	74316531	5	2	81	1	0	0	0	0	0	0	1	0	3642	1623	56	3	395	3	CNTN3	3	74316531	Splice_Site	SNP	T	TCGA-BR-8369-01A-11D-2340-08	10183470	74316531	123705899	56	55225											
CD80	941	broad.mit.edu	37	chr3	119263627	119263627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccttttgccagtagatgCgagtttgtgccagctcttca	9	11	3	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:119263627C>T	uc003ecq.2	-	3	583	c.188G>A	c.(187-189)CGC>CAC	p.R63H	CD80_uc010hqt.1_Missense_Mutation_p.R63H|CD80_uc010hqu.1_Missense_Mutation_p.R63H|CD80_uc003ecr.1_Missense_Mutation_p.R63H	NM_005191	NP_005182	P33681	CD80_HUMAN	CD80 antigen precursor	63	Extracellular (Potential).|Ig-like V-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2					Abatacept(DB01281)	CCAGTAGATGCGAGTTTGTGC	0.468													T	119263627	C	T	119263627	3	4	81	1	0	0	0	0	1	0	0	0	3038	768	27	1	694	1	CD80	3	119263627	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	44947096	119263627	78758803	57	55226											
ADPRH	141	broad.mit.edu	37	chr3	119305464	119305464	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtacattgtccaatcaggcTactttgtagaggaaaatctt	8	7	2	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:119305464T>A	uc003ecs.2	+	4	929	c.631T>A	c.(631-633)TAC>AAC	p.Y211N	ADPRH_uc010hqv.2_Missense_Mutation_p.Y211N|ADPRH_uc011bjb.1_Missense_Mutation_p.Y104N|ADPRH_uc003ect.2_Missense_Mutation_p.Y211N	NM_001125	NP_001116	P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	211					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			ovary(1)	1		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CCAATCAGGCTACTTTGTAGA	0.468													A	119305464	T	A	119305464	3	1	81	1	0	0	0	0	1	0	0	0	331	1522	53	5	637	5	ADPRH	3	119305464	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	41837	119305464	78716966	58	55227											
STXBP5L	9515	broad.mit.edu	37	chr3	120959317	120959317	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagtggaggagcttggaacCttggagcacaaacatatcca	11	9	1	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:120959317C>A	uc003eec.3	+	14	1503	c.1363C>A	c.(1363-1365)CTT>ATT	p.L455I	STXBP5L_uc011bji.1_Missense_Mutation_p.L455I	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	455	WD 8.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		AGCTTGGAACCTTGGAGCACA	0.323													A	120959317	C	A	120959317	3	1	81	1	0	0	0	0	1	0	0	0	15356	681	24	5	1413	5	STXBP5L	3	120959317	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	1653853	120959317	77063113	59	55228											
CASR	846	broad.mit.edu	37	chr3	121980735	121980735	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctcatcaaggagattgtcCggcgcaatatcacgggcaag	11	12	3	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:121980735C>A	uc003eev.3	+	4	1225	c.853C>A	c.(853-855)CGG>AGG	p.R285R	CASR_uc003eew.3_Silent_p.R285R	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	285	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGAGATTGTCCGGCGCAATAT	0.572													A	121980735	C	A	121980735	2	1	81	1	0	0	0	0	0	0	0	1	2682	643	23	5		5	CASR	3	121980735	Silent	SNP	C	TCGA-BR-8369-01A-11D-2340-08	1021418	121980735	76041695	60	55229											
ADCY5	111	broad.mit.edu	37	chr3	123019008	123019008	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcggcgttgtcgaagagCgtgacacctggcacctccac	13	13	0	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:123019008C>T	uc003egh.1	-	15	2859	c.2859G>A	c.(2857-2859)ACG>ACA	p.T953T	ADCY5_uc003egg.1_Silent_p.T586T|ADCY5_uc003egi.1_Silent_p.T512T	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	953	Helical; (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		TGTCGAAGAGCGTGACACCTG	0.617													T	123019008	C	T	123019008	2	4	81	1	0	0	0	0	0	0	0	1	297	755	27	1		1	ADCY5	3	123019008	Silent	SNP	C	TCGA-BR-8369-01A-11D-2340-08	1038273	123019008	75003422	61	55230											
MBD4	8930	broad.mit.edu	37	chr3	129156711	129156711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgggttcttgtagcaaggGattacattcactgcttcttt	10	7	3	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:129156711G>A	uc003emh.1	-	2	363	c.187C>T	c.(187-189)CCC>TCC	p.P63S	IFT122_uc003eml.2_5'Flank|IFT122_uc003emm.2_5'Flank|IFT122_uc003emn.2_5'Flank|IFT122_uc003emo.2_5'Flank|IFT122_uc003emp.2_5'Flank|IFT122_uc010htc.2_5'Flank|IFT122_uc011bky.1_5'Flank|IFT122_uc003emq.2_5'Flank|MBD4_uc003emi.1_Missense_Mutation_p.P63S|MBD4_uc003emj.1_Missense_Mutation_p.P63S|MBD4_uc003emk.1_Missense_Mutation_p.P63S|MBD4_uc011bkw.1_Missense_Mutation_p.P63S|IFT122_uc011bkx.1_5'Flank	NM_003925	NP_003916	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	63					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			ovary(1)|lung(1)	2						TGTAGCAAGGGATTACATTCA	0.428								BER_DNA_glycosylases					A	129156711	G	A	129156711	3	1	81	1	0	0	0	0	1	0	0	0	9346	1174	41	4	1583	4	MBD4	3	129156711	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	6137703	129156711	68865719	62	55231											
PLOD2	5352	broad.mit.edu	37	chr3	145838953	145838953	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcatagtgttccatgactTctttcattaatctcactttc	4	11	3	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:145838953T>C	uc003evs.1	-	3	790	c.284A>G	c.(283-285)GAA>GGA	p.E95G	PLOD2_uc011bnm.1_Missense_Mutation_p.E40G|PLOD2_uc003evr.1_Missense_Mutation_p.E95G	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	95					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)	TTCCATGACTTCTTTCATTAA	0.373													C	145838953	T	C	145838953	3	2	81	1	0	0	0	0	1	0	0	0	12102	1783	62	3	2064	3	PLOD2	3	145838953	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	16682242	145838953	52183477	63	55232											
NAALADL2	254827	broad.mit.edu	37	chr3	174814909	174814909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgctgcaacttttgccacGtcttaaaaatactttgcaca	5	11	1	0	rs150099163	by1000genomes	TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:174814909G>A	uc003fit.2	+	2	460	c.373G>A	c.(373-375)GTC>ATC	p.V125I	NAALADL2_uc003fiu.1_Missense_Mutation_p.V118I	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	125	Helical; Signal-anchor for type II membrane protein; (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CTTTTGCCACGTCTTAAAAAT	0.388													A	174814909	G	A	174814909	3	1	81	1	0	0	0	0	1	0	0	0	10130	1145	40	1	379	1	NAALADL2	3	174814909	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	28975956	174814909	23207521	64	55233											
LRRC15	131578	broad.mit.edu	37	chr3	194080940	194080940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctccttcagggaattcCcaaagagagtaagacggttg	12	8	1	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:194080940C>T	uc003ftu.2	-	2	919	c.833G>A	c.(832-834)GGG>GAG	p.G278E	LRRC15_uc003ftt.2_Missense_Mutation_p.G284E	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15 isoform b	278	Extracellular (Potential).|LRR 10.					integral to membrane				ovary(3)	3	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CAGGGAATTCCCAAAGAGAGT	0.562													T	194080940	C	T	194080940	3	4	81	1	0	0	0	0	1	0	0	0	8970	623	22	4	916	4	LRRC15	3	194080940	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	19266031	194080940	3941490	65	55234											
FGFR3	2261	broad.mit.edu	37	chr4	1807568	1807568	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgggcctggactactccttCgacacctgcaagccgcccga	10	18	0	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr4:1807568C>T	uc003gdr.3	+	13	1993	c.1737C>T	c.(1735-1737)TTC>TTT	p.F579F	FGFR3_uc003gdu.2_Silent_p.F581F|FGFR3_uc003gds.3_Silent_p.F467F|FGFR3_uc003gdq.3_Silent_p.F580F	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	579	Protein kinase.|Cytoplasmic (Potential).				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACTACTCCTTCGACACCTGCA	0.562		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				T	1807568	C	T	1807568	2	4	81	1	0	0	0	0	0	0	0	1	5867	883	31	1		1	FGFR3	4	1807568	Silent	SNP	C	TCGA-BR-8369-01A-11D-2340-08		1807568	189346708	66	55235											
EVC	2121	broad.mit.edu	37	chr4	5735085	5735085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttattttgcagtgtagacGttgacctgtgtatctacagc	9	7	1	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr4:5735085G>A	uc003gil.1	+	5	809	c.625G>A	c.(625-627)GTT>ATT	p.V209I	EVC_uc003gim.1_RNA	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	209					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				CAGTGTAGACGTTGACCTGTG	0.453													A	5735085	G	A	5735085	3	1	81	1	0	0	0	0	1	0	0	0	5285	1145	40	1	643	1	EVC	4	5735085	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	3927517	5735085	185419191	67	55236											
CRMP1	1400	broad.mit.edu	37	chr4	5838597	5838597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttctgggcagtgctgtaGggacagtggccgctgcctgt	16	11	1	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr4:5838597G>A	uc003gip.2	-	11	1106	c.1005C>T	c.(1003-1005)CCC>CCT	p.P335P	CRMP1_uc003gin.1_Silent_p.P247P|CRMP1_uc003giq.2_Silent_p.P335P|CRMP1_uc003gir.2_Silent_p.P330P|CRMP1_uc003gis.2_Silent_p.P449P	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	335					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		CAGTGCTGTAGGGACAGTGGC	0.562													A	5838597	G	A	5838597	2	1	81	1	0	0	0	0	0	0	0	1	3890	987	35	4		4	CRMP1	4	5838597	Silent	SNP	G	TCGA-BR-8369-01A-11D-2340-08	103512	5838597	185315679	68	55237											
LDB2	9079	broad.mit.edu	37	chr4	16590368	16590368	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttctcgggactaactctcGgtattgtctaatggtaaagt	10	8	3	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr4:16590368G>A	uc003goz.2	-	4	812	c.496C>T	c.(496-498)CGA>TGA	p.R166*	LDB2_uc003gpa.2_Nonsense_Mutation_p.R166*|LDB2_uc003gpb.2_Nonsense_Mutation_p.R166*|LDB2_uc011bxh.1_Nonsense_Mutation_p.R166*|LDB2_uc010iee.2_Nonsense_Mutation_p.R166*|LDB2_uc003goy.2_Nonsense_Mutation_p.R42*|LDB2_uc011bxi.1_Nonsense_Mutation_p.R42*	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	166							LIM domain binding|transcription cofactor activity				0						ACTAACTCTCGGTATTGTCTA	0.393													A	16590368	G	A	16590368	4	1	81	1	0	0	0	0	0	1	0	0	8696	1124	39	1	754	1	LDB2	4	16590368	Nonsense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	10751771	16590368	174563908	69	55238											
CCDC158	339965	broad.mit.edu	37	chr4	77283351	77283351	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	atctctctcttgtttgatgtCcttcactgcacggagccgct	8	13	3	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr4:77283351C>G	uc003hkb.3	-	12	2101	c.1948G>C	c.(1948-1950)GAC>CAC	p.D650H		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	650	Potential.									skin(3)|ovary(2)|pancreas(1)	6						TGTTTGATGTCCTTCACTGCA	0.448													G	77283351	C	G	77283351	3	3	81	1	0	0	0	0	1	0	0	0	2790	855	30	5	1445	5	CCDC158	4	77283351	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	60692983	77283351	113870925	70	55239											
EMCN	51705	broad.mit.edu	37	chr4	101338291	101338291	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactgatcatttccattttcTggtgtgcctaggagaagagg	11	7	2	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr4:101338291T>C	uc003hvr.2	-	9	851	c.672A>G	c.(670-672)CCA>CCG	p.P224P	EMCN_uc011cel.1_Silent_p.P211P|EMCN_uc011cem.1_Silent_p.P141P	NM_016242	NP_057326	Q9ULC0	MUCEN_HUMAN	endomucin isoform 1	224	Cytoplasmic (Potential).					extracellular region|integral to membrane|plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		TTCCATTTTCTGGTGTGCCTA	0.398													C	101338291	T	C	101338291	2	2	81	1	0	0	0	0	0	0	0	1	5086	1567	55	3		3	EMCN	4	101338291	Silent	SNP	T	TCGA-BR-8369-01A-11D-2340-08	24054940	101338291	89815985	71	55240											
ENPEP	2028	broad.mit.edu	37	chr4	111441511	111441511	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctaacccttctcagcccccTtcagatcttgggtaaggctc	8	15	3	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr4:111441511T>C	uc003iab.3	+	10	2058	c.1716T>C	c.(1714-1716)CCT>CCC	p.P572P		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	572	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTCAGCCCCCTTCAGATCTTG	0.408													C	111441511	T	C	111441511	2	2	81	1	0	0	0	0	0	0	0	1	5128	1596	56	3		3	ENPEP	4	111441511	Silent	SNP	T	TCGA-BR-8369-01A-11D-2340-08	10103220	111441511	79712765	72	55241											
KIAA1109	84162	broad.mit.edu	37	chr4	123161243	123161243	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcatttgtttctgcgtTaggtggagaagatgatgtta	13	4	2	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr4:123161243T>G	uc003ieh.2	+	27	4451	c.4406T>G	c.(4405-4407)TTA>TGA	p.L1469*	KIAA1109_uc003iei.1_Nonsense_Mutation_p.L1222*|KIAA1109_uc010ins.1_Nonsense_Mutation_p.L812*|KIAA1109_uc003iek.2_Nonsense_Mutation_p.L88*	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1469					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						GTTTCTGCGTTAGGTGGAGAA	0.418													G	123161243	T	G	123161243	4	3	81	1	0	0	0	0	0	1	0	0	8208	1764	61	5	4512	5	KIAA1109	4	123161243	Nonsense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	11719732	123161243	67993033	73	55242											
SDHA	6389	broad.mit.edu	37	chr5	236617	236617	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggaggccgcctgtgcctcGgtacatggtgccaaccgcct	15	14	0	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr5:236617G>A	uc003jao.3	+	10	1450	c.1335G>A	c.(1333-1335)TCG>TCA	p.S445S	SDHA_uc011clv.1_Silent_p.S445S|SDHA_uc011clw.1_Silent_p.S397S|SDHA_uc003jap.3_Silent_p.S445S|SDHA_uc003jaq.3_Silent_p.S220S|SDHA_uc003jar.3_Silent_p.S39S	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	445					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCTGTGCCTCGGTACATGGTG	0.597									Familial_Paragangliomas				A	236617	G	A	236617	2	1	81	1	0	0	0	0	0	0	0	1	13963	1103	39	1		1	SDHA	5	236617	Silent	SNP	G	TCGA-BR-8369-01A-11D-2340-08		236617	180678643	74	55243											
SPEF2	79925	broad.mit.edu	37	chr5	35759705	35759705	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttccaagatacaaagagactCcttcaagattattactgggg	8	8	1	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr5:35759705C>G	uc003jjo.2	+	25	3615	c.3504C>G	c.(3502-3504)CTC>CTG	p.L1168L	SPEF2_uc003jjp.1_Silent_p.L654L	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1168					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAAGAGACTCCTTCAAGATT	0.373													G	35759705	C	G	35759705	2	3	81	1	0	0	0	0	0	0	0	1	15034	842	30	5		5	SPEF2	5	35759705	Silent	SNP	C	TCGA-BR-8369-01A-11D-2340-08	35523088	35759705	145155555	75	55244											
PTGER4	5734	broad.mit.edu	37	chr5	40681868	40681868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgactttcggcgccgccGgagcttccgccgcatcgcgg	14	17	0	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr5:40681868G>A	uc003jlz.2	+	2	1365	c.773G>A	c.(772-774)CGG>CAG	p.R258Q		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	258	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			lung(2)	2						CGGCGCCGCCGGAGCTTCCGC	0.706													A	40681868	G	A	40681868	3	1	81	1	0	0	0	0	1	0	0	0	12745	1116	39	1	775	1	PTGER4	5	40681868	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	4922163	40681868	140233392	76	55245											
GPBP1	65056	broad.mit.edu	37	chr5	56542945	56542945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagaaaataaagttggaaCttctttccctcatgagtcca	6	8	2	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr5:56542945C>T	uc003jrh.3	+	8	1981	c.707C>T	c.(706-708)ACT>ATT	p.T236I	GPBP1_uc010iwg.2_Missense_Mutation_p.T256I|GPBP1_uc003jri.3_Missense_Mutation_p.T65I|GPBP1_uc003jrj.3_Missense_Mutation_p.T243I|GPBP1_uc003jrk.3_Missense_Mutation_p.T243I|GPBP1_uc003jrl.3_RNA	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1 isoform 1	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			large_intestine(1)|central_nervous_system(1)	2		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		AAAGTTGGAACTTCTTTCCCT	0.358													T	56542945	C	T	56542945	3	4	81	1	0	0	0	0	1	0	0	0	6595	565	20	4	754	4	GPBP1	5	56542945	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	15861077	56542945	124372315	77	55246											
RHOBTB3	22836	broad.mit.edu	37	chr5	95072640	95072640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgaaatctaattgggggCgctgacatcattgtgatcaa	10	8	4	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr5:95072640C>T	uc003klm.2	+	3	813	c.276C>T	c.(274-276)GGC>GGT	p.G92G	RHOBTB3_uc003klk.1_5'UTR	NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	92	Rho-like.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)|skin(1)	2		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TAATTGGGGGCGCTGACATCA	0.338													T	95072640	C	T	95072640	2	4	81	1	0	0	0	0	0	0	0	1	13335	755	27	1		1	RHOBTB3	5	95072640	Silent	SNP	C	TCGA-BR-8369-01A-11D-2340-08	38529695	95072640	85842620	78	55247											
ST8SIA4	7903	broad.mit.edu	37	chr5	100147763	100147763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatttcatcacagaatcTtgtggcaagtgtatacatga	9	6	3	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr5:100147763T>C	uc003knk.2	-	5	1196	c.868A>G	c.(868-870)AGA>GGA	p.R290G		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	290	Lumenal (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TCACAGAATCTTGTGGCAAGT	0.363													C	100147763	T	C	100147763	3	2	81	1	0	0	0	0	1	0	0	0	15233	1617	56	3	215	3	ST8SIA4	5	100147763	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	5075123	100147763	80767497	79	55248											
SEPT8	23176	broad.mit.edu	37	chr5	132097231	132097231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagagctcgtagtgccggCtgtgggtctgctcgcggagg	19	9	1	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr5:132097231C>T	uc003kxr.2	-	7	1119	c.881G>A	c.(880-882)AGC>AAC	p.S294N	SEPT8_uc003kxs.1_Missense_Mutation_p.S294N|SEPT8_uc003kxu.2_Missense_Mutation_p.S294N|SEPT8_uc011cxi.1_Missense_Mutation_p.S292N|SEPT8_uc003kxv.2_Missense_Mutation_p.S292N|SEPT8_uc003kxt.2_Missense_Mutation_p.S234N	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	septin 8 isoform a	294					cell cycle	septin complex	GTP binding|protein binding			ovary(2)	2		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTAGTGCCGGCTGTGGGTCTG	0.587													T	132097231	C	T	132097231	3	4	81	1	0	0	0	0	1	0	0	0	14070	797	28	2	641	2	SEPT8	5	132097231	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	31949468	132097231	48818029	80	55249											
HTR4	3360	broad.mit.edu	37	chr5	147889194	147889194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacccggaattgatatagcCgagccagaggaaagcagtcc	11	11	0	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr5:147889194C>T	uc003lpn.2	-	6	1065	c.901G>A	c.(901-903)GGC>AGC	p.G301S	HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Missense_Mutation_p.G301S|HTR4_uc003lpj.1_Missense_Mutation_p.G301S|HTR4_uc003lpk.2_Missense_Mutation_p.G301S|HTR4_uc011dby.1_Missense_Mutation_p.G301S|HTR4_uc003lpl.2_Missense_Mutation_p.G315S|HTR4_uc003lpm.2_Missense_Mutation_p.G301S|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Missense_Mutation_p.G301S	NM_000870	NP_000861	Q13639	5HT4R_HUMAN	serotonin 5-HT4 receptor isoform b	301	Helical; Name=7; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	TTGATATAGCCGAGCCAGAGG	0.488													T	147889194	C	T	147889194	3	4	81	1	0	0	0	0	1	0	0	0	7449	652	23	1	569	1	HTR4	5	147889194	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	15791963	147889194	33026066	81	55250											
KIAA1191	57179	broad.mit.edu	37	chr5	175774615	175774615	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggctctagaagccagtGggtgtgagcacattcaggtc	15	8	2	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr5:175774615G>A	uc003mdw.2	-	9	1278	c.906C>T	c.(904-906)CCC>CCT	p.P302P	KIAA1191_uc003mdx.2_Silent_p.P283P|KIAA1191_uc003mdy.2_Silent_p.P302P|KIAA1191_uc003mea.2_Silent_p.P95P|KIAA1191_uc003mdz.2_RNA	NM_020444	NP_065177	Q96A73	K1191_HUMAN	hypothetical protein LOC57179 isoform a	302							protein binding			ovary(1)	1	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		AGAAGCCAGTGGGTGTGAGCA	0.507													A	175774615	G	A	175774615	2	1	81	1	0	0	0	0	0	0	0	1	8212	1335	47	4		4	KIAA1191	5	175774615	Silent	SNP	G	TCGA-BR-8369-01A-11D-2340-08	27885421	175774615	5140645	82	55251											
SLC17A1	6568	broad.mit.edu	37	chr6	25819308	25819308	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agactcaccaaaaatatagaAgaccatgggccagcccagag	9	11	1	4			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr6:25819308A>G	uc003nfh.3	-	6	720	c.604T>C	c.(604-606)TTC>CTC	p.F202L	SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Missense_Mutation_p.F200L|SLC17A1_uc010jqc.1_Missense_Mutation_p.F200L	NM_005074	NP_005065	Q14916	NPT1_HUMAN	solute carrier family 17 (sodium phosphate),	202	Helical; (Potential).				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(3)|pancreas(1)	4						AAAATATAGAAGACCATGGGC	0.343													G	25819308	A	G	25819308	3	3	81	1	0	0	0	0	1	0	0	0	14416	72	3	3	827	3	SLC17A1	6	25819308	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08		25819308	145295759	83	55252											
NOTCH4	4855	broad.mit.edu	37	chr6	32169879	32169879	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggaggggtctcacagtcGtagccatcaaacagacactc	11	12	2	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr6:32169879G>A	uc003obb.2	-	21	3868	c.3729C>T	c.(3727-3729)TAC>TAT	p.Y1243Y	NOTCH4_uc003oba.2_Translation_Start_Site|NOTCH4_uc011dpu.1_Intron|NOTCH4_uc011dpv.1_Intron	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1243	LNR 2.|Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						TCTCACAGTCGTAGCCATCAA	0.612													A	32169879	G	A	32169879	2	1	81	1	0	0	0	0	0	0	0	1	10551	1140	40	1		1	NOTCH4	6	32169879	Silent	SNP	G	TCGA-BR-8369-01A-11D-2340-08	6350571	32169879	138945188	84	55253											
HLA-DQA2	3118	broad.mit.edu	37	chr6	32713088	32713088	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtttagcaaatttataAgttttgacccgcagagtgca	8	7	0	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr6:32713088A>C	uc003obx.2	+	2	293	c.235A>C	c.(235-237)AGT>CGT	p.S79R		NM_020056	NP_064440	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ	79	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAAATTTATAAGTTTTGACCC	0.468													C	32713088	A	C	32713088	3	2	81	1	0	0	0	0	1	0	0	0	7205	72	3	5	241	5	HLA-DQA2	6	32713088	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	543209	32713088	138401979	85	55254											
SPDEF	25803	broad.mit.edu	37	chr6	34512202	34512202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaggtggctgggggataCgctgctcagacccgggctgg	19	10	1	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr6:34512202C>T	uc003ojq.1	-	2	446	c.31G>A	c.(31-33)GTA>ATA	p.V11I	SPDEF_uc011dsq.1_Missense_Mutation_p.V11I	NM_012391	NP_036523	O95238	SPDEF_HUMAN	SAM pointed domain containing ets transcription	11					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(3)|ovary(1)|central_nervous_system(1)	5						CTGGGGGATACGCTGCTCAGA	0.657													T	34512202	C	T	34512202	3	4	81	1	0	0	0	0	1	0	0	0	15025	536	19	1	996	1	SPDEF	6	34512202	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	1799114	34512202	136602865	86	55255											
CD2AP	23607	broad.mit.edu	37	chr6	47471062	47471062	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgtacatgatgatgaAttaactattcgagttggaga	11	4	0	4			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr6:47471062A>G	uc003oyw.2	+	2	507	c.51A>G	c.(49-51)GAA>GAG	p.E17E		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	17	Interaction with ANLN and localization to the midbody.|SH3 1; truncated.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ATGATGATGAATTAACTATTC	0.373													G	47471062	A	G	47471062	2	3	81	1	0	0	0	0	0	0	0	1	2994	98	4	3		3	CD2AP	6	47471062	Silent	SNP	A	TCGA-BR-8369-01A-11D-2340-08	12958860	47471062	123644005	87	55256											
C6orf168	84553	broad.mit.edu	37	chr6	99771484	99771484	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaagggaccaccaccactaAgagagagcatcttccgggtc	11	12	1	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr6:99771484A>T	uc003ppj.3	-	4	942	c.659T>A	c.(658-660)CTT>CAT	p.L220H	C6orf168_uc003ppi.3_Intron	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	hypothetical protein LOC84553	220										ovary(2)|central_nervous_system(1)	3		all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.073)		ACCACCACTAAGAGAGAGCAT	0.512													T	99771484	A	T	99771484	3	4	81	1	0	0	0	0	1	0	0	0	2343	72	3	5	582	5	C6orf168	6	99771484	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	52300422	99771484	71343583	88	55257											
LAMA2	3908	broad.mit.edu	37	chr6	129475706	129475706	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgatgaaaatgttgccagaAgaaatctgagtttgaatata	9	3	1	6			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr6:129475706A>C	uc003qbn.2	+	8	1189	c.1084A>C	c.(1084-1086)AGA>CGA	p.R362R	LAMA2_uc003qbo.2_Silent_p.R362R	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	362	Laminin EGF-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGTTGCCAGAAGAAATCTGAG	0.348													C	129475706	A	C	129475706	2	2	81	1	0	0	0	0	0	0	0	1	8606	64	3	5		5	LAMA2	6	129475706	Silent	SNP	A	TCGA-BR-8369-01A-11D-2340-08	29704222	129475706	41639361	89	55258											
C6orf191	253582	broad.mit.edu	37	chr6	130164750	130164750	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacattcaactcatgcacccTaaagatgttataagtgaaaa	6	8	2	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr6:130164750T>G	uc003qbs.2	-	3	203	c.120_splice	c.e3-1	p.E40_splice		NM_001010876	NP_001010876	Q5VVB8	CF191_HUMAN	hypothetical protein LOC253582							integral to membrane				large_intestine(1)	1				GBM - Glioblastoma multiforme(226;0.0387)|all cancers(137;0.115)|OV - Ovarian serous cystadenocarcinoma(155;0.131)		TCATGCACCCTAAAGATGTTA	0.333													G	130164750	T	G	130164750	5	3	81	1	0	0	0	0	0	0	1	0	2348	1536	53	5	280	5	C6orf191	6	130164750	Splice_Site	SNP	T	TCGA-BR-8369-01A-11D-2340-08	689044	130164750	40950317	90	55259											
CCDC28A	25901	broad.mit.edu	37	chr6	139101111	139101111	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatttccactctggaaaacTtcaagcatttggtaagcaat	7	8	2	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr6:139101111T>G	uc003qie.2	+	3	736	c.581T>G	c.(580-582)CTT>CGT	p.L194R		NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	194											0				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TCTGGAAAACTTCAAGCATTT	0.393													G	139101111	T	G	139101111	3	3	81	1	0	0	0	0	1	0	0	0	2802	1609	56	5	591	5	CCDC28A	6	139101111	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	8936361	139101111	32013956	91	55260											
THSD7A	221981	broad.mit.edu	37	chr7	11446010	11446010	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgtcagcacagaattccTcatccaccactttgctgaaa	5	13	2	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr7:11446010T>G	uc003ssf.3	-	21	4406	c.4154A>C	c.(4153-4155)GAG>GCG	p.E1385A		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1385	TSP type-1 14.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACAGAATTCCTCATCCACCAC	0.463										HNSCC(18;0.044)			G	11446010	T	G	11446010	3	3	81	1	0	0	0	0	1	0	0	0	15876	1551	54	5	847	5	THSD7A	7	11446010	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08		11446010	147692653	92	55261											
OSBPL3	26031	broad.mit.edu	37	chr7	24905012	24905012	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaaccataatggaactcGtgtctcaccaccacaagaaa	6	12	1	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr7:24905012G>A	uc003sxf.2	-	7	1027	c.622C>T	c.(622-624)CGA>TGA	p.R208*	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Nonsense_Mutation_p.R208*|OSBPL3_uc003sxh.2_Nonsense_Mutation_p.R208*|OSBPL3_uc003sxi.2_Nonsense_Mutation_p.R208*	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	208					lipid transport		lipid binding|protein binding			skin(1)	1						AATGGAACTCGTGTCTCACCA	0.403													A	24905012	G	A	24905012	4	1	81	1	0	0	0	0	0	1	0	0	11279	1153	40	1	2109	1	OSBPL3	7	24905012	Nonsense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	13459002	24905012	134233651	93	55262											
PDE1C	5137	broad.mit.edu	37	chr7	31920359	31920359	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttttgttatttttagcttaCcttgtttcatcaatatacac	3	8	2	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr7:31920359C>G	uc003tcm.1	-	3	711	c.242_splice	c.e3+1	p.R81_splice	PDE1C_uc003tcn.1_Splice_Site_p.R81_splice|PDE1C_uc003tco.1_Splice_Site_p.R141_splice|PDE1C_uc003tcr.2_Splice_Site_p.R81_splice|PDE1C_uc003tcs.2_Splice_Site_p.R81_splice	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C						activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			TTTTAGCTTACCTTGTTTCAT	0.363													G	31920359	C	G	31920359	5	3	81	1	0	0	0	0	0	0	1	0	11635	521	18	5	1721	5	PDE1C	7	31920359	Splice_Site	SNP	C	TCGA-BR-8369-01A-11D-2340-08	7015347	31920359	127218304	94	55263											
HECW1	23072	broad.mit.edu	37	chr7	43483816	43483816	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tatttttcttcttaccagcaGatgatgaggagatttccctg	8	8	2	4			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr7:43483816G>T	uc003tid.1	+	11	1651	c.1046_splice	c.e11-1	p.D349_splice	HECW1_uc011kbi.1_Splice_Site_p.D349_splice	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						CTTACCAGCAGATGATGAGGA	0.488													T	43483816	G	T	43483816	5	4	81	1	0	0	0	0	0	0	1	0	7042	956	33	5	1079	5	HECW1	7	43483816	Splice_Site	SNP	G	TCGA-BR-8369-01A-11D-2340-08	11563457	43483816	115654847	95	55264											
GRM3	2913	broad.mit.edu	37	chr7	86415969	86415969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcgggagctcattgcagcCgccagccgcgccaatgcctc	12	17	1	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr7:86415969C>T	uc003uid.2	+	3	1960	c.861C>T	c.(859-861)GCC>GCT	p.A287A	GRM3_uc010lef.2_Silent_p.A285A|GRM3_uc010leg.2_Silent_p.A159A|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	287	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCATTGCAGCCGCCAGCCGCG	0.662													T	86415969	C	T	86415969	2	4	81	1	0	0	0	0	0	0	0	1	6798	639	23	1		1	GRM3	7	86415969	Silent	SNP	C	TCGA-BR-8369-01A-11D-2340-08	42932153	86415969	72722694	96	55265											
C7orf58	79974	broad.mit.edu	37	chr7	120629879	120629879	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaaaggattctctcaggaCaaacagtgcttccttctctc	7	11	3	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr7:120629879C>A	uc003vjq.3	+	2	651	c.204C>A	c.(202-204)GAC>GAA	p.D68E	C7orf58_uc003vjr.1_Missense_Mutation_p.D68E|C7orf58_uc003vjs.3_Missense_Mutation_p.D68E	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	68						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					TCTCTCAGGACAAACAGTGCT	0.517													A	120629879	C	A	120629879	3	1	81	1	0	0	0	0	1	0	0	0	2405	477	17	5	206	5	C7orf58	7	120629879	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	34213910	120629879	38508784	97	55266											
PLXNA4	91584	broad.mit.edu	37	chr7	131853325	131853325	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacacgctcctgccggtagcCcgggacctgcagagagacct	12	16	0	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr7:131853325C>A	uc003vra.3	-	22	4253	c.4024G>T	c.(4024-4026)GGC>TGC	p.G1342C		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1342	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						TGCCGGTAGCCCGGGACCTGC	0.597													A	131853325	C	A	131853325	3	1	81	1	0	0	0	0	1	0	0	0	12122	623	22	5	1704	5	PLXNA4	7	131853325	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	11223446	131853325	27285338	98	55267											
TRPV5	56302	broad.mit.edu	37	chr7	142626594	142626594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagagacactggccctgCgggtgagcagggcacgcacc	16	13	0	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr7:142626594C>T	uc003wby.1	-	4	680	c.416G>A	c.(415-417)CGC>CAC	p.R139H	TRPV5_uc003wbz.2_Missense_Mutation_p.R139H	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	139	ANK 3.|Cytoplasmic (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					ACTGGCCCTGCGGGTGAGCAG	0.602													T	142626594	C	T	142626594	3	4	81	1	0	0	0	0	1	0	0	0	16596	768	27	1	1821	1	TRPV5	7	142626594	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	10773269	142626594	16512069	99	55268											
PRKAG2	51422	broad.mit.edu	37	chr7	151257696	151257696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatttaccaccaccagcCgatggacctgcaaagagaaa	7	13	1	1	rs121908991		TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr7:151257696C>T	uc003wkk.2	-	15	2203	c.1592G>A	c.(1591-1593)CGG>CAG	p.R531Q	PRKAG2_uc003wki.2_Missense_Mutation_p.R290Q|PRKAG2_uc011kvl.1_Missense_Mutation_p.R406Q|PRKAG2_uc003wkj.2_Missense_Mutation_p.R487Q|PRKAG2_uc003wkl.2_Missense_Mutation_p.R79Q	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	AMP-activated protein kinase gamma2 subunit	531	CBS 4.		R -> Q (in GSDH; reduction of binding affinities for AMP and ATP; loss of cooperative binding; enhanced basal activity; increased phosphorylation of the alpha-subunit).|R -> G (in WPWS; absence of cardiac hypertrophy; onset in childhood).		ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(1)|kidney(1)	2	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CACCACCAGCCGATGGACCTG	0.398													T	151257696	C	T	151257696	3	4	81	1	0	0	0	0	1	0	0	0	12501	652	23	1	125	1	PRKAG2	7	151257696	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	8631102	151257696	7880967	100	55269											
DLC1	10395	broad.mit.edu	37	chr8	13357033	13357033	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttacttatagagtcagtaActtttctctccccactttct	3	11	3	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr8:13357033A>C	uc003wwm.2	-	2	992	c.548T>G	c.(547-549)GTT>GGT	p.V183G	DLC1_uc003wwn.2_Missense_Mutation_p.V183G|DLC1_uc011kxy.1_Missense_Mutation_p.V183G	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	183					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						AGAGTCAGTAACTTTTCTCTC	0.393													C	13357033	A	C	13357033	3	2	81	1	0	0	0	0	1	0	0	0	4550	43	2	5	4191	5	DLC1	8	13357033	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08		13357033	133006989	101	55270											
MSR1	4481	broad.mit.edu	37	chr8	16007773	16007773	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atatcctgggagtcctcgacTtccaggaaagccaattgctc	9	12	0	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr8:16007773T>G	uc003wwz.2	-	7	1144	c.946A>C	c.(946-948)AGT>CGT	p.S316R	MSR1_uc010lsu.2_Missense_Mutation_p.S334R|MSR1_uc003wxa.2_Missense_Mutation_p.S316R|MSR1_uc003wxb.2_Missense_Mutation_p.S316R|MSR1_uc011kxz.1_Missense_Mutation_p.S90R	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	316	Collagen-like.|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)		AGTCCTCGACTTCCAGGAAAG	0.363													G	16007773	T	G	16007773	3	3	81	1	0	0	0	0	1	0	0	0	9886	1609	56	5	473	5	MSR1	8	16007773	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	2650740	16007773	130356249	102	55271											
OPRK1	4986	broad.mit.edu	37	chr8	54147490	54147490	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcatcatggtcaaggtgaAgatgctggtgaacatgttgt	13	6	3	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr8:54147490A>C	uc003xrh.1	-	2	814	c.439T>G	c.(439-441)TTC>GTC	p.F147V	OPRK1_uc003xri.1_Missense_Mutation_p.F147V|OPRK1_uc010lyc.1_Missense_Mutation_p.F58V	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	147	Helical; Name=3; (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GTCAAGGTGAAGATGCTGGTG	0.473													C	54147490	A	C	54147490	3	2	81	1	0	0	0	0	1	0	0	0	10885	72	3	5	711	5	OPRK1	8	54147490	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	38139717	54147490	92216532	103	55272											
ATP6V1H	51606	broad.mit.edu	37	chr8	54669124	54669124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttctcttaccgtttgcctCgtggataatgccgcacatat	7	12	1	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr8:54669124C>T	uc003xrl.2	-	12	1420	c.1268G>A	c.(1267-1269)CGA>CAA	p.R423Q	ATP6V1H_uc003xrk.2_Missense_Mutation_p.R383Q|ATP6V1H_uc003xrm.2_Missense_Mutation_p.R423Q|ATP6V1H_uc003xrn.2_Missense_Mutation_p.R405Q|ATP6V1H_uc011ldv.1_Missense_Mutation_p.R343Q|ATP6V1H_uc010lyd.2_Missense_Mutation_p.R359Q	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	423					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			CCGTTTGCCTCGTGGATAATG	0.393													T	54669124	C	T	54669124	3	4	81	1	0	0	0	0	1	0	0	0	1189	884	31	1	195	1	ATP6V1H	8	54669124	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	521634	54669124	91694898	104	55273											
PKHD1L1	93035	broad.mit.edu	37	chr8	110509266	110509266	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atacaaggatttaccatttgGacatgctgggattatggaat	10	5	0	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr8:110509266G>T	uc003yne.2	+	64	10550	c.10446G>T	c.(10444-10446)TGG>TGT	p.W3482C		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3482	PbH1 8.|Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTACCATTTGGACATGCTGGG	0.338										HNSCC(38;0.096)			T	110509266	G	T	110509266	3	4	81	1	0	0	0	0	1	0	0	0	11972	1183	41	5	10700	5	PKHD1L1	8	110509266	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	55840142	110509266	35854756	105	55274											
CSMD3	114788	broad.mit.edu	37	chr8	113702269	113702269	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatcaccacaactttcTttctcaatttctggaaaaat	4	11	4	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr8:113702269T>C	uc003ynu.2	-	14	2142	c.1983A>G	c.(1981-1983)AAA>AAG	p.K661K	CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Silent_p.K621K|CSMD3_uc011lhx.1_Silent_p.K557K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	661	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CACAACTTTCTTTCTCAATTT	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113702269	T	C	113702269	2	2	81	1	0	0	0	0	0	0	0	1	3946	1606	56	3		3	CSMD3	8	113702269	Silent	SNP	T	TCGA-BR-8369-01A-11D-2340-08	3193003	113702269	32661753	106	55275											
TRPS1	7227	broad.mit.edu	37	chr8	116632178	116632178	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatctgatctgcagaaaaTtctttgttctttccagatac	6	9	4	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr8:116632178T>G	uc003ynz.2	-	2	567	c.108A>C	c.(106-108)GAA>GAC	p.E36D	TRPS1_uc011lhy.1_Missense_Mutation_p.E40D|TRPS1_uc003yny.2_Missense_Mutation_p.E49D|TRPS1_uc010mcy.2_Missense_Mutation_p.E36D	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	36					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTGCAGAAAATTCTTTGTTCT	0.438									Langer-Giedion_syndrome				G	116632178	T	G	116632178	3	3	81	1	0	0	0	0	1	0	0	0	16590	1490	52	5	3757	5	TRPS1	8	116632178	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	2929909	116632178	29731844	107	55276											
ENPP2	5168	broad.mit.edu	37	chr8	120577135	120577135	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggtccacttatcacgttaActccatttctttccgaagca	5	12	2	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr8:120577135A>C	uc003yot.1	-	23	2278	c.2192T>G	c.(2191-2193)GTT>GGT	p.V731G	ENPP2_uc011lic.1_Missense_Mutation_p.V269G|ENPP2_uc003yor.1_Missense_Mutation_p.V366G|ENPP2_uc003yos.1_Missense_Mutation_p.V783G|ENPP2_uc010mdd.1_Missense_Mutation_p.V756G	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	autotaxin isoform 2 preproprotein	731					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TATCACGTTAACTCCATTTCT	0.358													C	120577135	A	C	120577135	3	2	81	1	0	0	0	0	1	0	0	0	5130	43	2	5	411	5	ENPP2	8	120577135	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	3944957	120577135	25786887	108	55277											
KHDRBS3	10656	broad.mit.edu	37	chr8	136561128	136561128	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgctttggaagaaatcaaAaagttcctcatccctgttag	7	9	2	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr8:136561128A>G	uc003yuv.2	+	4	850	c.456A>G	c.(454-456)AAA>AAG	p.K152K	KHDRBS3_uc003yuw.2_Silent_p.K152K	NM_006558	NP_006549	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal	152					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(2)	2	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			AAGAAATCAAAAAGTTCCTCA	0.373													G	136561128	A	G	136561128	2	3	81	1	0	0	0	0	0	0	0	1	8148	11	1	3		3	KHDRBS3	8	136561128	Silent	SNP	A	TCGA-BR-8369-01A-11D-2340-08	15983993	136561128	9802894	109	55278											
COL22A1	169044	broad.mit.edu	37	chr8	139890165	139890165	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcgcggtgggctgccgcCgcggcgtccagcaccaggtc	16	17	0	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr8:139890165C>T	uc003yvd.2	-	3	933	c.486G>A	c.(484-486)GCG>GCA	p.A162A		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	162	Poly-Ala.|VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGCTGCCGCCGCGGCGTCCA	0.726										HNSCC(7;0.00092)			T	139890165	C	T	139890165	2	4	81	1	0	0	0	0	0	0	0	1	3681	639	23	1		1	COL22A1	8	139890165	Silent	SNP	C	TCGA-BR-8369-01A-11D-2340-08	3329037	139890165	6473857	110	55279											
CYP11B1	1584	broad.mit.edu	37	chr8	143960475	143960475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgccacatttgtgcccaCgatgttgtctgtaggccacc	9	14	1	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr8:143960475C>T	uc003yxi.2	-	2	375	c.368G>A	c.(367-369)CGT>CAT	p.R123H	CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.R123H|CYP11B1_uc010mey.2_Missense_Mutation_p.R168H	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	123					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	TTTGTGCCCACGATGTTGTCT	0.632									Familial_Hyperaldosteronism_type_I				T	143960475	C	T	143960475	3	4	81	1	0	0	0	0	1	0	0	0	4145	536	19	1	1175	1	CYP11B1	8	143960475	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	4070310	143960475	2403547	111	55280											
PTPRD	5789	broad.mit.edu	37	chr9	8518139	8518139	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatccctcggggcactggAtggtgcttgctctgaggttt	14	10	1	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr9:8518139A>G	uc003zkk.2	-	20	1963	c.1252T>C	c.(1252-1254)TCC>CCC	p.S418P	PTPRD_uc003zkp.2_Missense_Mutation_p.S418P|PTPRD_uc003zkq.2_Missense_Mutation_p.S418P|PTPRD_uc003zkr.2_Missense_Mutation_p.S412P|PTPRD_uc003zks.2_Missense_Mutation_p.S408P|PTPRD_uc003zkl.2_Missense_Mutation_p.S418P|PTPRD_uc003zkm.2_Missense_Mutation_p.S405P|PTPRD_uc003zkn.2_Missense_Mutation_p.S418P|PTPRD_uc003zko.2_Missense_Mutation_p.S415P	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	418	Fibronectin type-III 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGGGCACTGGATGGTGCTTGC	0.517										TSP Lung(15;0.13)			G	8518139	A	G	8518139	3	3	81	1	0	0	0	0	1	0	0	0	12799	333	12	3	4658	3	PTPRD	9	8518139	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08		8518139	132695292	112	55281											
ELAVL2	1993	broad.mit.edu	37	chr9	23762096	23762096	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtcatgttctgaggaAggtagttgactattaagttg	12	5	2	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr9:23762096A>G	uc003zpu.2	-	2	412	c.137T>C	c.(136-138)CTT>CCT	p.L46P	ELAVL2_uc003zps.2_Missense_Mutation_p.L46P|ELAVL2_uc003zpt.2_Missense_Mutation_p.L46P|ELAVL2_uc003zpv.2_Missense_Mutation_p.L46P|ELAVL2_uc003zpw.2_Missense_Mutation_p.L46P	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	46	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GTTCTGAGGAAGGTAGTTGAC	0.433													G	23762096	A	G	23762096	3	3	81	1	0	0	0	0	1	0	0	0	5050	72	3	3	966	3	ELAVL2	9	23762096	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	15243957	23762096	117451335	113	55282											
DCAF12	25853	broad.mit.edu	37	chr9	34125189	34125189	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctggtttcattctgtagcctGacttcccggttcttcaagta	8	11	4	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr9:34125189G>T	uc003ztt.2	-	2	507	c.165C>A	c.(163-165)GTC>GTA	p.V55V		NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	55						centrosome|CUL4 RING ubiquitin ligase complex					0						TCTGTAGCCTGACTTCCCGGT	0.478													T	34125189	G	T	34125189	2	4	81	1	0	0	0	0	0	0	0	1	4263	1277	45	5		5	DCAF12	9	34125189	Silent	SNP	G	TCGA-BR-8369-01A-11D-2340-08	10363093	34125189	107088242	114	55283											
ARID3C	138715	broad.mit.edu	37	chr9	34623474	34623474	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgcatgcgctggcaggccGgaggtggaaccctgggctgg	18	11	0	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr9:34623474G>T	uc011lon.1	-	4	813	c.813C>A	c.(811-813)TCC>TCA	p.S271S	DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank	NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT- like)	271	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CTGGCAGGCCGGAGGTGGAAC	0.682													T	34623474	G	T	34623474	2	4	81	1	0	0	0	0	0	0	0	1	918	1103	39	5		5	ARID3C	9	34623474	Silent	SNP	G	TCGA-BR-8369-01A-11D-2340-08	498285	34623474	106589957	115	55284											
TRPM3	80036	broad.mit.edu	37	chr9	73477848	73477848	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctttgttggaatggccaccTccttggaactcaatggtccc	10	12	1	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr9:73477848T>A	uc004aid.2	-	3	682	c.438A>T	c.(436-438)GGA>GGT	p.G146G	TRPM3_uc004ahw.2_5'UTR|TRPM3_uc004ahx.2_5'UTR|TRPM3_uc004ahy.2_5'UTR|TRPM3_uc004ahz.2_5'UTR|TRPM3_uc004aia.2_5'UTR|TRPM3_uc004aib.2_5'UTR|TRPM3_uc004aic.2_Silent_p.G146G|TRPM3_uc010mor.2_Silent_p.G146G|TRPM3_uc004aie.2_5'UTR|TRPM3_uc004aif.2_5'UTR|TRPM3_uc004aig.2_5'UTR|TRPM3_uc004aii.2_Silent_p.G148G	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	146	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						AATGGCCACCTCCTTGGAACT	0.458													A	73477848	T	A	73477848	2	1	81	1	0	0	0	0	0	0	0	1	16584	1538	54	5		5	TRPM3	9	73477848	Silent	SNP	T	TCGA-BR-8369-01A-11D-2340-08	38854374	73477848	67735583	116	55285											
C9orf95	54981	broad.mit.edu	37	chr9	77692120	77692120	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atctgtctctatctcagactCtggctggaaaaataataaag	7	8	4	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr9:77692120C>G	uc004aju.2	-	4	722	c.124G>C	c.(124-126)GAG>CAG	p.E42Q	C9orf95_uc004ajs.3_Missense_Mutation_p.E46Q|C9orf95_uc004ajr.3_Missense_Mutation_p.E42Q|C9orf95_uc004ajt.3_Missense_Mutation_p.E42Q	NM_017881	NP_060351	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1 isoform 1	42					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity				0						ATCTCAGACTCTGGCTGGAAA	0.294													G	77692120	C	G	77692120	3	3	81	1	0	0	0	0	1	0	0	0	2507	922	32	5	499	5	C9orf95	9	77692120	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	4214272	77692120	63521311	117	55286											
NTRK2	4915	broad.mit.edu	37	chr9	87322806	87322806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtctaggaaacatttccGtcaccttgacttgtctgaac	7	10	3	2	rs144037140		TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr9:87322806G>A	uc004aoa.1	+	7	1345	c.407G>A	c.(406-408)CGT>CAT	p.R136H	NTRK2_uc004anv.1_Missense_Mutation_p.R136H|NTRK2_uc004any.1_Missense_Mutation_p.R136H|NTRK2_uc004anz.1_Missense_Mutation_p.R136H|NTRK2_uc011lsz.1_Missense_Mutation_p.R136H|NTRK2_uc011lta.1_Missense_Mutation_p.R136H|NTRK2_uc004aob.1_Missense_Mutation_p.R136H|NTRK2_uc011ltb.1_5'UTR	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	136	Extracellular (Potential).|LRR 2.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						AAACATTTCCGTCACCTTGAC	0.323										TSP Lung(25;0.17)			A	87322806	G	A	87322806	3	1	81	1	0	0	0	0	1	0	0	0	10707	1145	40	1	421	1	NTRK2	9	87322806	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	9630686	87322806	53890625	118	55287											
COL15A1	1306	broad.mit.edu	37	chr9	101748296	101748296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaactgtgaggagcacagcCgcatccccttccagcggtcc	11	15	0	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr9:101748296C>T	uc004azb.1	+	3	756	c.550C>T	c.(550-552)CGC>TGC	p.R184C	COL15A1_uc004aza.2_Missense_Mutation_p.R184C	NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	184	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				GGAGCACAGCCGCATCCCCTT	0.582													T	101748296	C	T	101748296	3	4	81	1	0	0	0	0	1	0	0	0	3672	652	23	1	560	1	COL15A1	9	101748296	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	14425490	101748296	39465135	119	55288											
SARDH	1757	broad.mit.edu	37	chr9	136596596	136596596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggattccacaccatacGccttgcccagctagggggac	11	14	0	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr9:136596596G>A	uc004cep.3	-	4	655	c.521C>T	c.(520-522)GCG>GTG	p.A174V	SARDH_uc004ceo.2_Missense_Mutation_p.A174V|SARDH_uc011mdn.1_Missense_Mutation_p.A174V|SARDH_uc011mdo.1_Missense_Mutation_p.A6V	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	174					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CACACCATACGCCTTGCCCAG	0.632													A	136596596	G	A	136596596	3	1	81	1	0	0	0	0	1	0	0	0	13841	1087	38	1	2307	1	SARDH	9	136596596	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	34848300	136596596	4616835	120	55289											
PMPCA	23203	broad.mit.edu	37	chr9	139309092	139309092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtggttctgcagccccgGctaacaggtgtggatcccag	14	11	1	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr9:139309092G>A	uc004chl.2	+	5	530	c.525G>A	c.(523-525)CGG>CGA	p.R175R	PMPCA_uc011mdy.1_Silent_p.R175R|PMPCA_uc010nbk.2_RNA|PMPCA_uc010nbl.2_Silent_p.R75R|PMPCA_uc011mdz.1_Intron|PMPCA_uc004chm.1_5'Flank	NM_015160	NP_055975	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	175					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGCAGCCCCGGCTAACAGGTG	0.557													A	139309092	G	A	139309092	2	1	81	1	0	0	0	0	0	0	0	1	12140	1190	42	2		2	PMPCA	9	139309092	Silent	SNP	G	TCGA-BR-8369-01A-11D-2340-08	2712496	139309092	1904339	121	55290											
PRKCQ	5588	broad.mit.edu	37	chr10	6557055	6557055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacaagactggcaggaccCgcagtcaaagttggacaagc	12	11	1	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr10:6557055C>T	uc001ijj.1	-	2	118	c.43G>A	c.(43-45)GGG>AGG	p.G15R	PRKCQ_uc009xim.1_Missense_Mutation_p.G15R|PRKCQ_uc001iji.1_Missense_Mutation_p.G48R|PRKCQ_uc009xin.1_5'UTR|PRKCQ_uc010qax.1_5'UTR	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	15	C2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						TGGCAGGACCCGCAGTCAAAG	0.483													T	6557055	C	T	6557055	3	4	81	1	0	0	0	0	1	0	0	0	12515	652	23	1	2145	1	PRKCQ	10	6557055	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08		6557055	128977692	122	55291											
NEBL	10529	broad.mit.edu	37	chr10	21124467	21124467	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgctatctctgcagccttcTtggcatgctgcatttcaagg	9	12	3	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr10:21124467T>C	uc001iqi.2	-	14	1821	c.1424A>G	c.(1423-1425)AAG>AGG	p.K475R	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	475	Nebulin 13.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						TGCAGCCTTCTTGGCATGCTG	0.428													C	21124467	T	C	21124467	3	2	81	1	0	0	0	0	1	0	0	0	10303	1609	56	3	1680	3	NEBL	10	21124467	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	14567412	21124467	114410280	123	55292											
MYO3A	53904	broad.mit.edu	37	chr10	26457648	26457648	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaatttttcaggtgttccTtaagtattatcacgtggagc	8	6	2	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr10:26457648T>G	uc001isn.2	+	28	3479	c.3119T>G	c.(3118-3120)CTT>CGT	p.L1040R	MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1040	Myosin head-like.				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						CAGGTGTTCCTTAAGTATTAT	0.353													G	26457648	T	G	26457648	3	3	81	1	0	0	0	0	1	0	0	0	10076	1609	56	5	3221	5	MYO3A	10	26457648	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	5333181	26457648	109077099	124	55293											
ARMC4	55130	broad.mit.edu	37	chr10	28270418	28270418	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttagacatattttctgaaaAttttggtgatttttctctta	5	4	2	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr10:28270418A>C	uc009xky.2	-	7	1011	c.913T>G	c.(913-915)TTT>GTT	p.F305V	ARMC4_uc010qds.1_5'UTR|ARMC4_uc010qdt.1_5'UTR|ARMC4_uc001itz.2_Missense_Mutation_p.F305V|ARMC4_uc010qdu.1_5'UTR	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	305							binding			ovary(4)|skin(2)	6						TTTTCTGAAAATTTTGGTGAT	0.299													C	28270418	A	C	28270418	3	2	81	1	0	0	0	0	1	0	0	0	953	101	4	5	2277	5	ARMC4	10	28270418	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	1812770	28270418	107264329	125	55294											
MPP7	143098	broad.mit.edu	37	chr10	28347474	28347474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtttttagcaaggacagaccGaactgagtctatacttgtgc	10	8	1	2	rs35450618		TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr10:28347474G>A	uc001iua.1	-	17	1761	c.1357C>T	c.(1357-1359)CGG>TGG	p.R453W	MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.R453W|MPP7_uc009xla.2_Missense_Mutation_p.R453W|MPP7_uc010qdv.1_RNA	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	palmitoylated membrane protein 7	453	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			ovary(1)	1						AGGACAGACCGAACTGAGTCT	0.333													A	28347474	G	A	28347474	3	1	81	1	0	0	0	0	1	0	0	0	9739	1057	37	1	385	1	MPP7	10	28347474	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	77056	28347474	107187273	126	55295											
OR13A1	79290	broad.mit.edu	37	chr10	45799057	45799057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtaggcgtagaagacagCggtgtaatacatgcacacca	11	8	0	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr10:45799057C>T	uc001jcc.1	-	4	1123	c.814G>A	c.(814-816)GCT>ACT	p.A272T	OR13A1_uc001jcd.1_Missense_Mutation_p.A268T	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A,	272	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TAGAAGACAGCGGTGTAATAC	0.577													T	45799057	C	T	45799057	3	4	81	1	0	0	0	0	1	0	0	0	10933	768	27	1	176	1	OR13A1	10	45799057	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	17451583	45799057	89735690	127	55296											
BICC1	80114	broad.mit.edu	37	chr10	60273052	60273052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggagtggagcgaggagcGcttccgcgtggacaggaaga	18	10	0	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr10:60273052G>A	uc001jki.1	+	1	149	c.149G>A	c.(148-150)CGC>CAC	p.R50H		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	50					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						AGCGAGGAGCGCTTCCGCGTG	0.632													A	60273052	G	A	60273052	3	1	81	1	0	0	0	0	1	0	0	0	1427	1087	38	1	151	1	BICC1	10	60273052	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	14473995	60273052	75261695	128	55297											
BICC1	80114	broad.mit.edu	37	chr10	60556253	60556253	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgtcccagcctggatatcTtagcttcagcaggccttgga	10	12	2	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr10:60556253T>G	uc001jki.1	+	10	1333	c.1333T>G	c.(1333-1335)TTA>GTA	p.L445V	BICC1_uc001jkj.1_Missense_Mutation_p.L86V	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	445					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						CCTGGATATCTTAGCTTCAGC	0.517													G	60556253	T	G	60556253	3	3	81	1	0	0	0	0	1	0	0	0	1427	1606	56	5	1371	5	BICC1	10	60556253	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	283201	60556253	74978494	129	55298											
FAM13C	220965	broad.mit.edu	37	chr10	61011428	61011428	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctcggagatggtcaagaAgtacaggcctatataaggta	11	6	2	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr10:61011428A>C	uc001jkn.2	-	14	1675	c.1541T>G	c.(1540-1542)CTT>CGT	p.L514R	FAM13C_uc001jko.2_Missense_Mutation_p.L416R|FAM13C_uc010qid.1_Missense_Mutation_p.L430R|FAM13C_uc010qie.1_Missense_Mutation_p.L431R|FAM13C_uc010qif.1_Missense_Mutation_p.L536R	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	514										ovary(2)	2						ATGGTCAAGAAGTACAGGCCT	0.393													C	61011428	A	C	61011428	3	2	81	1	0	0	0	0	1	0	0	0	5454	72	3	5	224	5	FAM13C	10	61011428	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	455175	61011428	74523319	130	55299											
PLCE1	51196	broad.mit.edu	37	chr10	96030337	96030337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgttcattgcctcagcaacGaaaaatggcagaaattttca	7	9	3	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr10:96030337G>A	uc001kjk.2	+	18	5118	c.4484G>A	c.(4483-4485)CGA>CAA	p.R1495Q	PLCE1_uc010qnx.1_Missense_Mutation_p.R1479Q|PLCE1_uc001kjm.2_Missense_Mutation_p.R1187Q	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1495	PI-PLC X-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				CCTCAGCAACGAAAAATGGCA	0.403													A	96030337	G	A	96030337	3	1	81	1	0	0	0	0	1	0	0	0	12034	1058	37	1	4836	1	PLCE1	10	96030337	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	35018909	96030337	39504410	131	55300											
UBQLNL	143630	broad.mit.edu	37	chr11	5537169	5537169	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgctttgcactctgggTggctcacttccaagttttgg	11	10	3	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:5537169T>C	uc001maz.3	-	1	788	c.503A>G	c.(502-504)CAC>CGC	p.H168R	HBG2_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	168										large_intestine(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GCACTCTGGGTGGCTCACTTC	0.507													C	5537169	T	C	5537169	3	2	81	1	0	0	0	0	1	0	0	0	16897	1696	59	3	928	3	UBQLNL	11	5537169	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08		5537169	129469347	132	55301											
APBB1	322	broad.mit.edu	37	chr11	6432344	6432344	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgggccgtggcggcccgCcggagctggttctggccctc	18	15	1	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:6432344C>T	uc001mdb.1	-	2	334	c.234G>A	c.(232-234)CGG>CGA	p.R78R	APBB1_uc001mdc.1_Silent_p.R78R|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	78					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TGGCGGCCCGCCGGAGCTGGT	0.672													T	6432344	C	T	6432344	2	4	81	1	0	0	0	0	0	0	0	1	759	726	26	2		2	APBB1	11	6432344	Silent	SNP	C	TCGA-BR-8369-01A-11D-2340-08	895175	6432344	128574172	133	55302											
OR10A4	283297	broad.mit.edu	37	chr11	6898769	6898769	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tacagctcaaggaataaagaAgtgaaggctgcactgaagcg	12	7	1	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:6898769A>T	uc010rat.1	+	1	891	c.891A>T	c.(889-891)GAA>GAT	p.E297D		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A,	297	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGAATAAAGAAGTGAAGGCTG	0.478													T	6898769	A	T	6898769	3	4	81	1	0	0	0	0	1	0	0	0	10892	69	3	5	893	5	OR10A4	11	6898769	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	466425	6898769	128107747	134	55303											
ZNF215	7762	broad.mit.edu	37	chr11	6977489	6977489	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccttactaagcatcaaaaActtcatgctgaagcaaaggc	6	10	2	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:6977489A>G	uc001mey.2	+	7	1869	c.1281A>G	c.(1279-1281)AAA>AAG	p.K427K	ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Silent_p.K189K|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	zinc finger protein 215	427	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AGCATCAAAAACTTCATGCTG	0.388													G	6977489	A	G	6977489	2	3	81	1	0	0	0	0	0	0	0	1	17768	40	2	3		3	ZNF215	11	6977489	Silent	SNP	A	TCGA-BR-8369-01A-11D-2340-08	78720	6977489	128029027	135	55304											
SPON1	10418	broad.mit.edu	37	chr11	14282168	14282168	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgtccccatggtccgaGtggagtgactgcagcgtgac	14	11	0	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:14282168G>C	uc001mle.2	+	15	2404	c.1866G>C	c.(1864-1866)GAG>GAC	p.E622D		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	622	TSP type-1 4.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)		CATGGTCCGAGTGGAGTGACT	0.552													C	14282168	G	C	14282168	3	2	81	1	0	0	0	0	1	0	0	0	15081	1020	36	5	1919	5	SPON1	11	14282168	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	7304679	14282168	120724348	136	55305											
ANO5	203859	broad.mit.edu	37	chr11	22291880	22291880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctttgaattggtggagaCgccgaaaagctcggacaaac	13	8	0	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:22291880C>T	uc001mqi.2	+	18	2238	c.1921C>T	c.(1921-1923)CGC>TGC	p.R641C	ANO5_uc001mqj.2_Missense_Mutation_p.R640C	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	641	Extracellular (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						TTGGTGGAGACGCCGAAAAGC	0.423													T	22291880	C	T	22291880	3	4	81	1	0	0	0	0	1	0	0	0	700	536	19	1	1991	1	ANO5	11	22291880	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	8009712	22291880	112714636	137	55306											
RAG1	5896	broad.mit.edu	37	chr11	36597271	36597271	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacattggcaatgcagctgAgttctacaagatcttccagc	9	10	2	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:36597271A>G	uc001mwu.3	+	2	2541	c.2417A>G	c.(2416-2418)GAG>GGG	p.E806G	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	806					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				AATGCAGCTGAGTTCTACAAG	0.483									Familial_Hemophagocytic_Lymphohistiocytosis				G	36597271	A	G	36597271	3	3	81	1	0	0	0	0	1	0	0	0	13003	304	11	3	2419	3	RAG1	11	36597271	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	14305391	36597271	98409245	138	55307											
LRRC4C	57689	broad.mit.edu	37	chr11	40137656	40137656	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcacgcaggtttttccgaaCacaaatcaccttgctgaact	6	13	2	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:40137656C>A	uc001mxa.1	-	2	2151	c.187G>T	c.(187-189)GTT>TTT	p.V63F	LRRC4C_uc001mxc.1_Missense_Mutation_p.V59F|LRRC4C_uc001mxd.1_Missense_Mutation_p.V59F|LRRC4C_uc001mxb.1_Missense_Mutation_p.V59F	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	63	LRRNT.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTTTTCCGAACACAAATCACC	0.537													A	40137656	C	A	40137656	3	1	81	1	0	0	0	0	1	0	0	0	9008	478	17	5	1739	5	LRRC4C	11	40137656	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	3540385	40137656	94868860	139	55308											
PHF21A	51317	broad.mit.edu	37	chr11	45970446	45970446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtcctcacctctcttccGggtcccagggtgcattgtgc	11	14	2	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:45970446G>A	uc001ncc.3	-	13	1900	c.1276C>T	c.(1276-1278)CGG>TGG	p.R426W	PHF21A_uc001ncb.3_Missense_Mutation_p.R427W|PHF21A_uc009ykx.2_Missense_Mutation_p.R427W|PHF21A_uc001nce.2_Missense_Mutation_p.R427W|PHF21A_uc001nca.1_Missense_Mutation_p.R162W	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	BRAF35/HDAC2 complex isoform a	426	A.T hook.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						CCTCTCTTCCGGGTCCCAGGG	0.473													A	45970446	G	A	45970446	3	1	81	1	0	0	0	0	1	0	0	0	11833	1115	39	1	817	1	PHF21A	11	45970446	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	5832790	45970446	89036070	140	55309											
OR4C12	283093	broad.mit.edu	37	chr11	50003778	50003778	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattaaaggagatgattttcTtctcttgaaaggaatccaca	7	7	2	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:50003778T>G	uc010ria.1	-	1	260	c.260A>C	c.(259-261)AAG>ACG	p.K87T		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	87	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						GATGATTTTCTTCTCTTGAAA	0.438													G	50003778	T	G	50003778	3	3	81	1	0	0	0	0	1	0	0	0	11046	1609	56	5	673	5	OR4C12	11	50003778	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	4033332	50003778	85002738	141	55310											
OR4C15	81309	broad.mit.edu	37	chr11	55321970	55321970	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaaagctttgtaactgAgtttgtcctcctgggacttt	8	9	0	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:55321970A>C	uc010rig.1	+	1	188	c.188A>C	c.(187-189)GAG>GCG	p.E63A		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TTTGTAACTGAGTTTGTCCTC	0.383										HNSCC(20;0.049)			C	55321970	A	C	55321970	3	2	81	1	0	0	0	0	1	0	0	0	11048	304	11	5	190	5	OR4C15	11	55321970	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	5318192	55321970	79684546	142	55311											
OR5J2	282775	broad.mit.edu	37	chr11	55944903	55944903	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccagtattttgtggaacaAgagaaagtggtttctatgtt	10	5	1	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:55944903A>C	uc010rjb.1	+	1	810	c.810A>C	c.(808-810)CAA>CAC	p.Q270H		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	270	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					TTGTGGAACAAGAGAAAGTGG	0.438													C	55944903	A	C	55944903	3	2	81	1	0	0	0	0	1	0	0	0	11165	69	3	5	812	5	OR5J2	11	55944903	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	622933	55944903	79061613	143	55312											
AHNAK	79026	broad.mit.edu	37	chr11	62286163	62286163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccattttcacacctgggatGccgatcttgggcatggaaaa	10	10	2	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:62286163G>A	uc001ntl.2	-	5	16026	c.15726C>T	c.(15724-15726)GGC>GGT	p.G5242G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	5242					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CACCTGGGATGCCGATCTTGG	0.542													A	62286163	G	A	62286163	2	1	81	1	0	0	0	0	0	0	0	1	414	1306	46	2		2	AHNAK	11	62286163	Silent	SNP	G	TCGA-BR-8369-01A-11D-2340-08	6341260	62286163	72720353	144	55313											
AHNAK	79026	broad.mit.edu	37	chr11	62294047	62294047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccactttgggccccttgatGtcaacttcggggcccttgag	11	13	1	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:62294047G>A	uc001ntl.2	-	5	8142	c.7842C>T	c.(7840-7842)GAC>GAT	p.D2614D	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2614					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GCCCCTTGATGTCAACTTCGG	0.517													A	62294047	G	A	62294047	2	1	81	1	0	0	0	0	0	0	0	1	414	1368	48	4		4	AHNAK	11	62294047	Silent	SNP	G	TCGA-BR-8369-01A-11D-2340-08	7884	62294047	72712469	145	55314											
MAP6	4135	broad.mit.edu	37	chr11	75298497	75298497	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgggactacaacatcTtgatccttgactggccctga	9	12	2	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:75298497T>C	uc001owu.2	-	4	2114	c.2049A>G	c.(2047-2049)CAA>CAG	p.Q683Q		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6 isoform 1	683	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding				0	Ovarian(111;0.11)					CTACAACATCTTGATCCTTGA	0.488													C	75298497	T	C	75298497	2	2	81	1	0	0	0	0	0	0	0	1	9264	1606	56	3		3	MAP6	11	75298497	Silent	SNP	T	TCGA-BR-8369-01A-11D-2340-08	13004450	75298497	59708019	146	55315											
CCDC83	220047	broad.mit.edu	37	chr11	85630404	85630404	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caccataggattatgtaaacTtgggccccctgggagtgaag	12	9	0	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:85630404T>G	uc001pbh.1	+	11	1605	c.1093T>G	c.(1093-1095)TTG>GTG	p.L365V	CCDC83_uc001pbg.1_Missense_Mutation_p.L396V|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.L265V	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	365										skin(1)	1		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TTATGTAAACTTGGGCCCCCT	0.403													G	85630404	T	G	85630404	3	3	81	1	0	0	0	0	1	0	0	0	2857	1606	56	5	1228	5	CCDC83	11	85630404	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	10331907	85630404	49376112	147	55316											
MMP3	4314	broad.mit.edu	37	chr11	102713534	102713534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcttccccgtcacctcCaatccaaggaacttctgcat	5	17	2	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:102713534C>T	uc001phj.1	-	2	284	c.219G>A	c.(217-219)TTG>TTA	p.L73L		NM_002422	NP_002413	P08254	MMP3_HUMAN	matrix metalloproteinase 3 preproprotein	73					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			lung(1)|kidney(1)	2		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CCGTCACCTCCAATCCAAGGA	0.483													T	102713534	C	T	102713534	2	4	81	1	0	0	0	0	0	0	0	1	9666	593	21	4		4	MMP3	11	102713534	Silent	SNP	C	TCGA-BR-8369-01A-11D-2340-08	17083130	102713534	32292982	148	55317											
PDGFD	80310	broad.mit.edu	37	chr11	103780501	103780501	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaactagagccatggtcTtagctctacccctcctcttg	7	14	4	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:103780501T>C	uc001phq.2	-	7	1406	c.1034A>G	c.(1033-1035)AAG>AGG	p.K345R	PDGFD_uc001php.2_Missense_Mutation_p.K339R	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	345					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		AGCCATGGTCTTAGCTCTACC	0.463													C	103780501	T	C	103780501	3	2	81	1	0	0	0	0	1	0	0	0	11660	1609	56	3	82	3	PDGFD	11	103780501	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	1066967	103780501	31226015	149	55318											
ALKBH8	91801	broad.mit.edu	37	chr11	107423922	107423922	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actcttctgtgttttaaggaTttttgagctgtgtgaagaga	11	4	2	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:107423922T>A	uc010rvr.1	-	5	582	c.507A>T	c.(505-507)AAA>AAT	p.K169N	ALKBH8_uc001pjk.2_5'Flank|ALKBH8_uc010rvq.1_Missense_Mutation_p.K32N|ALKBH8_uc009yxp.2_Missense_Mutation_p.K169N|ALKBH8_uc001pjl.2_RNA	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8	169					response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity				0		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		GTTTTAAGGATTTTTGAGCTG	0.323													A	107423922	T	A	107423922	3	1	81	1	0	0	0	0	1	0	0	0	533	1490	52	5	1519	5	ALKBH8	11	107423922	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	3643421	107423922	27582594	150	55319											
ACAT1	38	broad.mit.edu	37	chr11	108013170	108013171	+	Frame_Shift_Ins	INS	-	-	A													tttttgctttcaggcacagtINSaacagctgccaatgccagta							TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:108013170_108013171insA	uc001pjy.2	+	9	909_910	c.833_834insA	c.(832-834)GTAfs	p.V278fs	ACAT1_uc001pjx.2_Frame_Shift_Ins_p.V152fs	NM_000019	NP_000010	P24752	THIL_HUMAN	acetyl-Coenzyme A acetyltransferase 1 precursor	278					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			ovary(3)	3		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	TCAGGCACAGTAACAGCTGCCA	0.371													A	108013171	-	A	108013170	7	5	81	1	0	1	1	0	0	0	0	0	121	1638	57	0	867	0	ACAT1	11	108013170	Frame_Shift_Ins	INS	-	TCGA-BR-8369-01A-11D-2340-08	589248	108013170	26993346	151	55320	233	2									
ACAT1	38	broad.mit.edu	37	chr11	108013171	108013172	+	Frame_Shift_Ins	INS	-	-	A													ttttgctttcaggcacagtaINSacagctgccaatgccagtac							TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:108013170_108013171T>TA	uc001pjy.3	+	8	909_910	c.833_834T>TA	c.(832-834)gtafs	p.V278fs	ACAT1_uc001pjx.3_Frame_Shift_Ins_p.V152fs	NM_000019	NP_000010	P24752	THIL_HUMAN	Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), nuclear gene encoding mitochondrial protein, mRNA.	278					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	TCAGGCACAGTAACAGCTGCCA	0.436													A	108013172	-	A	108013171	7	5	81	1	0	1	1	0	0	0	0	0	121	349	13	0	868	0	ACAT1	11	108013171	Frame_Shift_Ins	INS	-	TCGA-BR-8369-01A-11D-2340-08	1	108013171	26993345	152	55321	233	2									
MLL	4297	broad.mit.edu	37	chr11	118347547	118347547	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgactcatcagagaccTctgtgcgaggaccccggatt	11	11	3	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:118347547T>C	uc001pta.2	+	4	3207	c.3184T>C	c.(3184-3186)TCT>CCT	p.S1062P	MLL_uc001ptb.2_Missense_Mutation_p.S1062P|MLL_uc001ptd.1_Missense_Mutation_p.S54P	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1062					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		ATCAGAGACCTCTGTGCGAGG	0.463			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								C	118347547	T	C	118347547	3	2	81	1	0	0	0	0	1	0	0	0	9620	1551	54	3	3198	3	MLL	11	118347547	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	10334376	118347547	16658969	153	55322											
SLCO1B3	28234	broad.mit.edu	37	chr12	21033890	21033890	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	accagtctgtgggaacaatgGaataacttacctgtcacctt	8	10	2	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr12:21033890G>T	uc001rek.2	+	11	1559	c.1433G>T	c.(1432-1434)GGA>GTA	p.G478V	SLCO1B3_uc001rel.2_Missense_Mutation_p.G478V|SLCO1B3_uc010sil.1_Missense_Mutation_p.G478V|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.G303V	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	478	Extracellular (Potential).|Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					GGGAACAATGGAATAACTTAC	0.388													T	21033890	G	T	21033890	3	4	81	1	0	0	0	0	1	0	0	0	14724	1174	41	5	1471	5	SLCO1B3	12	21033890	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08		21033890	112818005	154	55323											
LRRK2	120892	broad.mit.edu	37	chr12	40716964	40716964	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgttttattacttctcaggaGatctcttagtaaatccagat	6	7	2	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr12:40716964G>T	uc001rmg.3	+	38	5633	c.5512G>T	c.(5512-5514)GAT>TAT	p.D1838Y	LRRK2_uc009zjw.2_Missense_Mutation_p.D676Y|LRRK2_uc001rmi.2_Missense_Mutation_p.D671Y	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1838					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTTCTCAGGAGATCTCTTAGT	0.308													T	40716964	G	T	40716964	3	4	81	1	0	0	0	0	1	0	0	0	9033	942	33	5	5662	5	LRRK2	12	40716964	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	19683074	40716964	93134931	155	55324											
KRT73	319101	broad.mit.edu	37	chr12	53010119	53010119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccagctgctgtagcagctCccacttggtctccagcacct	9	16	1	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr12:53010119C>T	uc001sas.2	-	2	528	c.493G>A	c.(493-495)GAG>AAG	p.E165K		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	165	Coil 1A.|Rod.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTAGCAGCTCCCACTTGGTC	0.557													T	53010119	C	T	53010119	3	4	81	1	0	0	0	0	1	0	0	0	8486	864	30	4	1161	4	KRT73	12	53010119	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	12293155	53010119	80841776	156	55325											
KRT2	3849	broad.mit.edu	37	chr12	53043714	53043714	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacctttttaagcgtcacaAaatcattctcagcagctgtg	6	11	4	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr12:53043714A>C	uc001sat.2	-	3	878	c.845T>G	c.(844-846)TTT>TGT	p.F282C		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	282	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		AAGCGTCACAAAATCATTCTC	0.443													C	53043714	A	C	53043714	3	2	81	1	0	0	0	0	1	0	0	0	8457	14	1	5	1102	5	KRT2	12	53043714	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	33595	53043714	80808181	157	55326											
CS	1431	broad.mit.edu	37	chr12	56679728	56679728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgatttggcccaccaccGtcttgccatgttgctgcctg	10	14	1	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr12:56679728G>A	uc001sks.1	-	3	363	c.173C>T	c.(172-174)ACG>ATG	p.T58M	CS_uc010sql.1_Missense_Mutation_p.T45M|CS_uc001skr.1_Translation_Start_Site|CS_uc001skt.1_Missense_Mutation_p.T13M|CS_uc010sqm.1_Translation_Start_Site	NM_004077	NP_004068	O75390	CISY_HUMAN	citrate synthase precursor	58					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity				0		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		GCCCACCACCGTCTTGCCATG	0.438													A	56679728	G	A	56679728	3	1	81	1	0	0	0	0	1	0	0	0	3924	1145	40	1	1263	1	CS	12	56679728	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	3636014	56679728	77172167	158	55327											
TIMELESS	8914	broad.mit.edu	37	chr12	56826160	56826160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagggtctcacctggtcaCgaaacataagggagacaatc	11	11	2	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr12:56826160C>T	uc001slf.2	-	7	848	c.680G>A	c.(679-681)CGT>CAT	p.R227H	TIMELESS_uc001slg.2_Missense_Mutation_p.R226H	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	227					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						CACCTGGTCACGAAACATAAG	0.537													T	56826160	C	T	56826160	3	4	81	1	0	0	0	0	1	0	0	0	15901	536	19	1	3038	1	TIMELESS	12	56826160	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	146432	56826160	77025735	159	55328											
PPFIA2	8499	broad.mit.edu	37	chr12	81657026	81657026	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaccatctgttgtcattttTcttgactgcccagaggttgt	9	9	3	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr12:81657026T>G	uc001szo.1	-	31	3860	c.3699A>C	c.(3697-3699)AGA>AGC	p.R1233S	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	1132										ovary(3)|lung(2)|pancreas(1)	6						TTGTCATTTTTCTTGACTGCC	0.418													G	81657026	T	G	81657026	3	3	81	1	0	0	0	0	1	0	0	0	12310	1780	62	5	82	5	PPFIA2	12	81657026	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	24830866	81657026	52194869	160	55329											
MGAT4C	25834	broad.mit.edu	37	chr12	86373333	86373333	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagtatttactttaatttTttttattataattggatttt	3	3	0	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr12:86373333T>C	uc001tai.3	-	8	2421	c.1171A>G	c.(1171-1173)AAA>GAA	p.K391E	MGAT4C_uc001tal.3_Missense_Mutation_p.K391E|MGAT4C_uc001taj.3_Missense_Mutation_p.K391E|MGAT4C_uc001tak.3_Missense_Mutation_p.K391E|MGAT4C_uc010sum.1_Missense_Mutation_p.K415E|MGAT4C_uc001tah.3_Missense_Mutation_p.K391E	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	391	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(3)	3						ACtttaattttttttattata	0.358													C	86373333	T	C	86373333	3	2	81	1	0	0	0	0	1	0	0	0	9547	1850	64	3	269	3	MGAT4C	12	86373333	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	4716307	86373333	47478562	161	55330											
GAS2L3	283431	broad.mit.edu	37	chr12	100994193	100994193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatctgcctctaagtcctCggagtcctctgactcccaga	8	14	3	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr12:100994193C>T	uc001thu.2	+	4	278	c.52C>T	c.(52-54)CGG>TGG	p.R18W	GAS2L3_uc009zty.2_Missense_Mutation_p.R18W|GAS2L3_uc001thv.2_5'UTR	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	18					cell cycle arrest					skin(1)	1						TCTAAGTCCTCGGAGTCCTCT	0.423													T	100994193	C	T	100994193	3	4	81	1	0	0	0	0	1	0	0	0	6248	875	31	1	58	1	GAS2L3	12	100994193	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	14620860	100994193	32857702	162	55331											
ACACB	32	broad.mit.edu	37	chr12	109637317	109637317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtacacagtggaggatgGgggccacgttgaggctggga	18	7	0	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr12:109637317G>A	uc001tob.2	+	18	2857	c.2738G>A	c.(2737-2739)GGG>GAG	p.G913E	ACACB_uc001toc.2_Missense_Mutation_p.G913E	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	913	Biotinyl-binding.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	GTGGAGGATGGGGGCCACGTT	0.572													A	109637317	G	A	109637317	3	1	81	1	0	0	0	0	1	0	0	0	107	1232	43	4	2804	4	ACACB	12	109637317	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	8643124	109637317	24214578	163	55332											
CLIP1	6249	broad.mit.edu	37	chr12	122826228	122826228	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttccattatacgtgactttTctgaaactgtagccacctat	6	10	1	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr12:122826228T>A	uc001ucg.1	-	10	1629	c.1523A>T	c.(1522-1524)GAA>GTA	p.E508V	CLIP1_uc001uch.1_Missense_Mutation_p.E497V|CLIP1_uc001uci.1_Missense_Mutation_p.E462V|CLIP1_uc001ucj.1_Missense_Mutation_p.E198V|CLIP1_uc009zxo.1_Missense_Mutation_p.E64V	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	508	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ACGTGACTTTTCTGAAACTGT	0.348													A	122826228	T	A	122826228	3	1	81	1	0	0	0	0	1	0	0	0	3532	1783	62	5	2857	5	CLIP1	12	122826228	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	13188911	122826228	11025667	164	55333											
SACS	26278	broad.mit.edu	37	chr13	23907444	23907444	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcatcatggattatcaatAaactttccagtttttcaaaa	4	7	3	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr13:23907444A>G	uc001uon.2	-	10	11160	c.10571T>C	c.(10570-10572)TTA>TCA	p.L3524S	SACS_uc001uoo.2_Missense_Mutation_p.L3377S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3524					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GATTATCAATAAACTTTCCAG	0.318													G	23907444	A	G	23907444	3	3	81	1	0	0	0	0	1	0	0	0	13804	372	13	3	3172	3	SACS	13	23907444	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08		23907444	91262434	165	55334											
C13orf18	80183	broad.mit.edu	37	chr13	46946450	46946450	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgcacatcctgggggttaAtccagacagctttgtgcctc	11	12	0	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr13:46946450A>T	uc010acl.2	-	3	766	c.161T>A	c.(160-162)ATT>AAT	p.I54N	C13orf18_uc001vbf.3_Intron|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_Intron|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Missense_Mutation_p.I54N|C13orf18_uc001vbh.3_Missense_Mutation_p.I54N|C13orf18_uc001vbi.3_Intron|C13orf18_uc010aco.1_Missense_Mutation_p.I54N|C13orf18_uc010tga.1_Intron	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	54											0		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)		CTGGGGGTTAATCCAGACAGC	0.537													T	46946450	A	T	46946450	3	4	81	1	0	0	0	0	1	0	0	0	1720	101	4	5	1879	5	C13orf18	13	46946450	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	23039006	46946450	68223428	166	55335											
RBM26	64062	broad.mit.edu	37	chr13	79940921	79940921	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgctgggaaaggcagcaTaccaggaagattcacatctt	11	9	2	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr13:79940921T>C	uc001vkz.2	-	7	996	c.982A>G	c.(982-984)ATG>GTG	p.M328V	RBM26_uc001vky.2_Missense_Mutation_p.M328V|RBM26_uc001vla.2_Missense_Mutation_p.M328V|RBM26_uc001vkx.2_Missense_Mutation_p.M40V|RBM26_uc001vlb.1_RNA	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	328	Pro-rich.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		AAAGGCAGCATACCAGGAAGA	0.488													C	79940921	T	C	79940921	3	2	81	1	0	0	0	0	1	0	0	0	13126	1406	49	3	2020	3	RBM26	13	79940921	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	32994471	79940921	35228957	167	55336											
SLITRK1	114798	broad.mit.edu	37	chr13	84453566	84453566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcttagtctgagagcgAgtgagagccacagtcataca	14	8	3	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr13:84453566A>G	uc001vlk.2	-	1	2963	c.2077T>C	c.(2077-2079)TCG>CCG	p.S693P		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	693	Cytoplasmic (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCTGAGAGCGAGTGAGAGCCA	0.587													G	84453566	A	G	84453566	3	3	81	1	0	0	0	0	1	0	0	0	14742	304	11	3	17	3	SLITRK1	13	84453566	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	4512645	84453566	30716312	168	55337											
SLITRK6	84189	broad.mit.edu	37	chr13	86368709	86368709	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgtctctcatttgctcAtctacttgtttctttttgta	5	9	5	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr13:86368709A>G	uc001vll.1	-	2	2394	c.1935T>C	c.(1933-1935)GAT>GAC	p.D645D	SLITRK6_uc010afe.1_Intron	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	645	Cytoplasmic (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCATTTGCTCATCTACTTGTT	0.428													G	86368709	A	G	86368709	2	3	81	1	0	0	0	0	0	0	0	1	14747	214	8	3		3	SLITRK6	13	86368709	Silent	SNP	A	TCGA-BR-8369-01A-11D-2340-08	1915143	86368709	28801169	169	55338											
FGF14	2259	broad.mit.edu	37	chr13	102521141	102521141	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttttcactccctggatggcAacaacacgtagtcccactgg	9	13	1	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr13:102521141A>C	uc001vpe.2	-	3	342	c.342T>G	c.(340-342)GTT>GTG	p.V114V	FGF14_uc001vpf.2_Silent_p.V119V	NM_004115	NP_004106	Q92915	FGF14_HUMAN	fibroblast growth factor 14 isoform 1A	114					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			ovary(2)|lung(1)|large_intestine(1)	4	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCTGGATGGCAACAACACGTA	0.448													C	102521141	A	C	102521141	2	2	81	1	0	0	0	0	0	0	0	1	5843	117	5	5		5	FGF14	13	102521141	Silent	SNP	A	TCGA-BR-8369-01A-11D-2340-08	16152432	102521141	12648737	170	55339											
OR4M1	441670	broad.mit.edu	37	chr14	20248972	20248972	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatacaggtggctctcattgTtcgacttcctttctgtgggc	10	10	2	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr14:20248972T>C	uc010tku.1	+	1	491	c.491T>C	c.(490-492)GTT>GCT	p.V164A		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	164	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTCTCATTGTTCGACTTCCT	0.493													C	20248972	T	C	20248972	3	2	81	1	0	0	0	0	1	0	0	0	11075	1725	60	3	493	3	OR4M1	14	20248972	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08		20248972	87100568	171	55340											
DHRS4L1	728635	broad.mit.edu	37	chr14	24507075	24507075	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggggaggggctgagcatgacGggcactgtgtgccatgtggg	21	7	0	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr14:24507075G>C	uc010alc.2	+	2	252	c.252G>C	c.(250-252)ACG>ACC	p.T84T	DHRS4L1_uc010tnu.1_Intron	NM_001082488	NP_001075957	P0CG22	DR4L1_HUMAN	dehydrogenase/reductase (SDR family) member 4	84							binding|oxidoreductase activity				0						TGAGCATGACGGGCACTGTGT	0.647													C	24507075	G	C	24507075	2	2	81	1	0	0	0	0	0	0	0	1	4493	1103	39	5		5	DHRS4L1	14	24507075	Silent	SNP	G	TCGA-BR-8369-01A-11D-2340-08	4258103	24507075	82842465	172	55341											
ZBTB25	7597	broad.mit.edu	37	chr14	64953979	64953979	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttggagatcaaagatacttGactgatctgcaaaggctctg	10	7	3	4			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr14:64953979G>A	uc001xhf.2	-	3	1153	c.970C>T	c.(970-972)CAA>TAA	p.Q324*	ZBTB25_uc001xhc.2_Intron|ZBTB25_uc001xhg.2_Nonsense_Mutation_p.Q324*	NM_006977	NP_008908	P24278	ZBT25_HUMAN	zinc finger protein 46	324						cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		AAAGATACTTGACTGATCTGC	0.443													A	64953979	G	A	64953979	4	1	81	1	0	0	0	0	0	1	0	0	17529	1299	45	4	341	4	ZBTB25	14	64953979	Nonsense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	40446904	64953979	42395561	173	55342											
FNTB	2342	broad.mit.edu	37	chr14	65521395	65521395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtggtcctgggtgtgccCgaaaacgctctggtaagacg	15	9	1	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr14:65521395C>T	uc001xia.2	+	11	1335	c.1170C>T	c.(1168-1170)CCC>CCT	p.P390P	FNTB_uc010tsl.1_Silent_p.P424P|FNTB_uc010tsm.1_Silent_p.P344P|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Silent_p.P146P|FNTB_uc010tso.1_Silent_p.P305P	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	390					protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TGGGTGTGCCCGAAAACGCTC	0.587													T	65521395	C	T	65521395	2	4	81	1	0	0	0	0	0	0	0	1	5978	639	23	1		1	FNTB	14	65521395	Silent	SNP	C	TCGA-BR-8369-01A-11D-2340-08	567416	65521395	41828145	174	55343											
ADAM21	8747	broad.mit.edu	37	chr14	70926219	70926219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccagcacagaggctatgGgggcagtattgacagtggcc	15	10	0	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr14:70926219G>A	uc001xmd.2	+	1	2003	c.2003G>A	c.(2002-2004)GGG>GAG	p.G668E		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	668	Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGAGGCTATGGGGGCAGTATT	0.493													A	70926219	G	A	70926219	3	1	81	1	0	0	0	0	1	0	0	0	243	1232	43	4	2005	4	ADAM21	14	70926219	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	5404824	70926219	36423321	175	55344											
TMEM90A	646658	broad.mit.edu	37	chr14	74876225	74876225	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctccttgaccttgtctctccCcaggaggcagctgggccggt	12	15	1	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr14:74876225C>G	uc001xpx.2	-	2	471	c.223G>C	c.(223-225)GGG>CGG	p.G75R		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	transmembrane protein 90A	75					response to biotic stimulus	Golgi apparatus|integral to membrane					0				BRCA - Breast invasive adenocarcinoma(234;0.00159)		TTGTCTCTCCCCAGGAGGCAG	0.697													G	74876225	C	G	74876225	3	3	81	1	0	0	0	0	1	0	0	0	16215	623	22	5	505	5	TMEM90A	14	74876225	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	3950006	74876225	32473315	176	55345											
KIAA1409	57578	broad.mit.edu	37	chr14	94109905	94109905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctcttttctttgcagatGccatgactgtggggccattc	9	11	3	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr14:94109905G>A	uc001ybv.1	+	33	5641	c.5558G>A	c.(5557-5559)TGC>TAC	p.C1853Y	KIAA1409_uc001ybs.1_Missense_Mutation_p.C1831Y	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2008						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		CTTTGCAGATGCCATGACTGT	0.443													A	94109905	G	A	94109905	3	1	81	1	0	0	0	0	1	0	0	0	8230	1319	46	2	5618	2	KIAA1409	14	94109905	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	19233680	94109905	13239635	177	55346											
EVL	51466	broad.mit.edu	37	chr14	100604082	100604082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccattgccgtagaacccCgtctgtggcaaagagccccg	10	14	1	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr14:100604082C>T	uc001ygt.2	+	11	1270	c.1031C>T	c.(1030-1032)CCG>CTG	p.P344L	EVL_uc001ygv.2_Missense_Mutation_p.P350L|EVL_uc001ygu.2_Missense_Mutation_p.P346L|EVL_uc010avu.2_Missense_Mutation_p.P203L	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Enah/Vasp-like	344	EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			large_intestine(2)|ovary(1)	3		Melanoma(154;0.152)				CGTAGAACCCCGTCTGTGGCA	0.622													T	100604082	C	T	100604082	3	4	81	1	0	0	0	0	1	0	0	0	5291	652	23	1	1079	1	EVL	14	100604082	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	6494177	100604082	6745458	178	55347											
MKRN3	7681	broad.mit.edu	37	chr15	23811300	23811300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgcacgacctttctggtcGgaagatggccactgagggtg	14	10	1	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr15:23811300G>A	uc001ywh.3	+	1	847	c.371G>A	c.(370-372)CGG>CAG	p.R124Q	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.R124Q	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	124						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTTTCTGGTCGGAAGATGGCC	0.602													A	23811300	G	A	23811300	3	1	81	1	0	0	0	0	1	0	0	0	9608	1116	39	1	373	1	MKRN3	15	23811300	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08		23811300	78720092	179	55348											
ATP10A	57194	broad.mit.edu	37	chr15	25958993	25958993	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccaggtggggcagctcCactgacacttggtcgtgcag	14	13	0	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr15:25958993C>T	uc010ayu.2	-	10	2278	c.2172G>A	c.(2170-2172)GTG>GTA	p.V724V		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	724	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGGGCAGCTCCACTGACACTT	0.632													T	25958993	C	T	25958993	2	4	81	1	0	0	0	0	0	0	0	1	1116	581	21	4		4	ATP10A	15	25958993	Silent	SNP	C	TCGA-BR-8369-01A-11D-2340-08	2147693	25958993	76572399	180	55349											
RYR3	6263	broad.mit.edu	37	chr15	33916068	33916068	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgcctccctctggctaTgccccttgctatgaagcctt	7	16	1	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr15:33916068T>G	uc001zhi.2	+	20	2488	c.2418T>G	c.(2416-2418)TAT>TAG	p.Y806*	RYR3_uc010bar.2_Nonsense_Mutation_p.Y806*	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	806	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTCTGGCTATGCCCCTTGCT	0.428													G	33916068	T	G	33916068	4	3	81	1	0	0	0	0	0	1	0	0	13770	1471	51	5	2496	5	RYR3	15	33916068	Nonsense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	7957075	33916068	68615324	181	55350											
RYR3	6263	broad.mit.edu	37	chr15	33993213	33993213	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggatccaccccgctggatGtggcagcttcctctgtgatg	14	12	1	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr15:33993213G>T	uc001zhi.2	+	42	6485	c.6415G>T	c.(6415-6417)GTG>TTG	p.V2139L	RYR3_uc010bar.2_Missense_Mutation_p.V2139L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2139	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCCGCTGGATGTGGCAGCTTC	0.567											OREG0023030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	33993213	G	T	33993213	3	4	81	1	0	0	0	0	1	0	0	0	13770	1377	48	5	6581	5	RYR3	15	33993213	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	77145	33993213	68538179	182	55351											
AQR	9716	broad.mit.edu	37	chr15	35155120	35155120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttatatgcaaatgaagggggCgagctgtgagctgactgaaa	14	5	0	4			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr15:35155120C>A	uc001ziv.2	-	33	4158	c.3977G>T	c.(3976-3978)CGC>CTC	p.R1326L		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	1326						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ATGAAGGGGGCGAGCTGTGAG	0.428													A	35155120	C	A	35155120	3	1	81	1	0	0	0	0	1	0	0	0	835	768	27	5	492	5	AQR	15	35155120	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	1161907	35155120	67376272	183	55352											
DYX1C1	161582	broad.mit.edu	37	chr15	55724773	55724773	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcattagcattgtctgTaacaggtggcatcaataatt	8	7	3	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr15:55724773T>C	uc002adc.2	-	9	1443	c.1075A>G	c.(1075-1077)ACA>GCA	p.T359A	CCPG1_uc002acy.2_5'UTR|DYX1C1_uc010ugh.1_Intron|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Intron|DYX1C1_uc002add.2_Intron	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1 isoform a	359					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			skin(1)	1				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		GCATTGTCTGTAACAGGTGGC	0.303													C	55724773	T	C	55724773	3	2	81	1	0	0	0	0	1	0	0	0	4862	1638	57	3	298	3	DYX1C1	15	55724773	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	20569653	55724773	46806619	184	55353											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84611673	84611673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgttccaggacttgtggcGggggaactcagaacagaaga	15	7	1	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr15:84611673G>A	uc002bjz.3	+	19	2553	c.2329G>A	c.(2329-2331)GGG>AGG	p.G777R	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G777R|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.G777R	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	777	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			GACTTGTGGCGGGGGAACTCA	0.537													A	84611673	G	A	84611673	3	1	81	1	0	0	0	0	1	0	0	0	276	1116	39	1	2399	1	ADAMTSL3	15	84611673	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	28886900	84611673	17919719	185	55354											
RUNDC2A	84127	broad.mit.edu	37	chr16	12142361	12142361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttgctgaaggagtccaCgcaaggagtgagcagcctgt	13	11	0	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr16:12142361C>T	uc002dbw.1	+	7	694	c.632C>T	c.(631-633)ACG>ATG	p.T211M		NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN	RUN domain containing 2A	211										ovary(1)	1						AAGGAGTCCACGCAAGGAGTG	0.547			T	CIITA	PMBL|Hodgkin Lymphona|								T	12142361	C	T	12142361	3	4	81	1	0	0	0	0	1	0	0	0	13743	536	19	1	658	1	RUNDC2A	16	12142361	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08		12142361	78212392	186	55355											
GTF3C1	2975	broad.mit.edu	37	chr16	27506768	27506768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgtggaccacccgcaggCgaggcattttgggcagaaat	13	10	0	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr16:27506768C>T	uc002dov.1	-	15	2436	c.2396G>A	c.(2395-2397)CGC>CAC	p.R799H	GTF3C1_uc002dou.2_Missense_Mutation_p.R799H	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	799						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CACCCGCAGGCGAGGCATTTT	0.522													T	27506768	C	T	27506768	3	4	81	1	0	0	0	0	1	0	0	0	6872	768	27	1	4025	1	GTF3C1	16	27506768	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	15364407	27506768	62847985	187	55356											
ZNF423	23090	broad.mit.edu	37	chr16	49672521	49672521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcttgatgtgccggtcaCggctcctcttgtgcttgaag	13	11	2	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr16:49672521C>T	uc002efs.2	-	5	840	c.542G>A	c.(541-543)CGC>CAC	p.R181H	ZNF423_uc010vgn.1_Missense_Mutation_p.R64H	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	181	C2H2-type 3.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GTGCCGGTCACGGCTCCTCTT	0.582													T	49672521	C	T	49672521	3	4	81	1	0	0	0	0	1	0	0	0	17895	536	19	1	3332	1	ZNF423	16	49672521	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	22165753	49672521	40682232	188	55357											
IRX6	79190	broad.mit.edu	37	chr16	55361588	55361588	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggcctggctcaacgagcaCcgcaaaaacccctaccccac	7	18	1	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr16:55361588C>A	uc002ehy.2	+	4	1037	c.504C>A	c.(502-504)CAC>CAA	p.H168Q	IRX6_uc002ehx.2_Missense_Mutation_p.H168Q|IRX6_uc010ccb.1_RNA	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	168	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						TCAACGAGCACCGCAAAAACC	0.607													A	55361588	C	A	55361588	3	1	81	1	0	0	0	0	1	0	0	0	7848	506	18	5	518	5	IRX6	16	55361588	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	5689067	55361588	34993165	189	55358											
KIAA0174	9798	broad.mit.edu	37	chr16	71955270	71955270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacaagctgagtgtggaaGccccacccaaaatcctggtg	11	12	0	1	rs139513735	byFrequency	TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr16:71955270G>A	uc002fbj.1	+	8	788	c.505G>A	c.(505-507)GCC>ACC	p.A169T	KIAA0174_uc010cgh.1_Missense_Mutation_p.A169T|KIAA0174_uc002fbk.1_Missense_Mutation_p.A156T|KIAA0174_uc002fbm.1_Missense_Mutation_p.A156T|KIAA0174_uc002fbl.1_Missense_Mutation_p.A156T|KIAA0174_uc002fbn.1_Missense_Mutation_p.A8T|KIAA0174_uc010cgi.1_Intron|KIAA0174_uc010cgj.1_Missense_Mutation_p.A88T|KIAA0174_uc010vml.1_5'Flank|KIAA0174_uc010vmk.1_Missense_Mutation_p.A8T			P53990	IST1_HUMAN	SubName: Full=cDNA FLJ32696 fis, clone TESTI2000358; SubName: Full=cDNA FLJ77725;	156	Interaction with VPS37B.|Interaction with CHMP1A and CHMP1B.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding			ovary(1)	1						GAGTGTGGAAGCCCCACCCAA	0.388													A	71955270	G	A	71955270	3	1	81	1	0	0	0	0	1	0	0	0	8158	971	34	2	484	2	KIAA0174	16	71955270	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	16593682	71955270	18399483	190	55359											
FOXF1	2294	broad.mit.edu	37	chr16	86545019	86545019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcggcgctcaacagcggcGcctcttatatcaagcagcag	11	15	3	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr16:86545019G>A	uc002fjl.2	+	1	887	c.844G>A	c.(844-846)GCC>ACC	p.A282T	uc002fjk.1_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	282					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0						CAACAGCGGCGCCTCTTATAT	0.726													A	86545019	G	A	86545019	3	1	81	1	0	0	0	0	1	0	0	0	6005	1087	38	1	846	1	FOXF1	16	86545019	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	14589749	86545019	3809734	191	55360											
TP53	7157	broad.mit.edu	37	chr17	7579311	7579311	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccctcagggcaactgaCcgtgcaagtcacagacttgg	11	14	2	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr17:7579311C>T	uc002gim.2	-	4	569	c.375_splice	c.e4+1	p.T125_splice	TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.2_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site_p.T86_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(11)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGCAACTGACCGTGCAAGTC	0.532		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7579311	C	T	7579311	5	4	81	1	0	0	0	0	0	0	1	0	16378	521	18	4	926	4	TP53	17	7579311	Splice_Site	SNP	C	TCGA-BR-8369-01A-11D-2340-08		7579311	73615899	192	55361											
SLC5A10	125206	broad.mit.edu	37	chr17	18862516	18862516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactggcgggctcaggcgcGgcaggaggtctggccgtggc	21	11	2	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr17:18862516G>A	uc002guu.1	+	3	293	c.252G>A	c.(250-252)GCG>GCA	p.A84A	SLC5A10_uc002gur.1_Silent_p.A28A|SLC5A10_uc002gut.1_Silent_p.A84A|SLC5A10_uc002guv.1_Silent_p.A84A|SLC5A10_uc010vyl.1_Silent_p.A84A	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/glucose	84	Helical; (Potential).				sodium ion transport|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1						GCTCAGGCGCGGCAGGAGGTC	0.652													A	18862516	G	A	18862516	2	1	81	1	0	0	0	0	0	0	0	1	14662	1103	39	1		1	SLC5A10	17	18862516	Silent	SNP	G	TCGA-BR-8369-01A-11D-2340-08	11283205	18862516	62332694	193	55362											
C17orf98	388381	broad.mit.edu	37	chr17	36997469	36997469	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaaaaggggcggaaccacGtgactctggaagtagctgcg	15	10	1	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr17:36997469G>A	uc002hqv.2	-	1	174	c.174C>T	c.(172-174)CAC>CAT	p.H58H		NM_001080465	NP_001073934	A8MV24	CQ098_HUMAN	hypothetical protein LOC388381	58											0						GCGGAACCACGTGACTCTGGA	0.592													A	36997469	G	A	36997469	2	1	81	1	0	0	0	0	0	0	0	1	1893	1136	40	1		1	C17orf98	17	36997469	Silent	SNP	G	TCGA-BR-8369-01A-11D-2340-08	18134953	36997469	44197741	194	55363											
CCR7	1236	broad.mit.edu	37	chr17	38711389	38711389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgcctggagcagggtgcGgatgatgacaaggtaacaga	17	7	0	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr17:38711389G>A	uc002huw.2	-	3	805	c.742C>T	c.(742-744)CGC>TGC	p.R248C		NM_001838	NP_001829	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7 precursor	248	Cytoplasmic (Potential).				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)	1		Breast(137;0.000496)				AGCAGGGTGCGGATGATGACA	0.557													A	38711389	G	A	38711389	3	1	81	1	0	0	0	0	1	0	0	0	2946	1116	39	1	398	1	CCR7	17	38711389	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	1713920	38711389	42483821	195	55364											
MYCBPAP	84073	broad.mit.edu	37	chr17	48594780	48594780	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttgtagcacgtcctgcgaatCctgatgaagccacaaagcct	9	12	0	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr17:48594780C>A	uc010wmr.1	+	3	622	c.460C>A	c.(460-462)CCT>ACT	p.P154T	MYCBPAP_uc002iqx.2_Missense_Mutation_p.P154T|MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	117					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TCCTGCGAATCCTGATGAAGC	0.507													A	48594780	C	A	48594780	3	1	81	1	0	0	0	0	1	0	0	0	10019	855	30	5	470	5	MYCBPAP	17	48594780	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	9883391	48594780	32600430	196	55365											
CDH2	1000	broad.mit.edu	37	chr18	25572801	25572801	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttctcaggaacttcaccatAaaactgcgagaaagacaaac	7	10	2	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr18:25572801A>T	uc002kwg.2	-	9	1621	c.1162T>A	c.(1162-1164)TAT>AAT	p.Y388N	CDH2_uc010xbn.1_Missense_Mutation_p.Y357N	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	388	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4						ACTTCACCATAAAACTGCGAG	0.483													T	25572801	A	T	25572801	3	4	81	1	0	0	0	0	1	0	0	0	3105	362	13	5	1590	5	CDH2	18	25572801	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08		25572801	52504447	197	55366											
TCEB3B	51224	broad.mit.edu	37	chr18	44559975	44559975	+	Missense_Mutation	SNP	A	A	G													cttccagaacaggttcaagaAcccagtaggggacctctccc							TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr18:44559975A>G	uc002lcr.1	-	1	2014	c.1661T>C	c.(1660-1662)GTT>GCT	p.V554A	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	554	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						AGGTTCAAGAACCCAGTAGGG	0.577													G	44559975	A	G	44559975	3	3	81	1	0	0	0	0	1	0	0	0	15679	43	2	3	604	3	TCEB3B	18	44559975	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	18987174	44559975	33517273	198	55367	234	2									
TCEB3B	51224	broad.mit.edu	37	chr18	44559978	44559978	+	Missense_Mutation	SNP	C	C	G													ccagaacaggttcaagaaccCagtaggggacctctcccacg							TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr18:44559978C>G	uc002lcr.1	-	1	2011	c.1658G>C	c.(1657-1659)TGG>TCG	p.W553S	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	553	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TTCAAGAACCCAGTAGGGGAC	0.587													G	44559978	C	G	44559978	3	3	81	1	0	0	0	0	1	0	0	0	15679	595	21	5	607	5	TCEB3B	18	44559978	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	3	44559978	33517270	199	55368	234	2									
CDH19	28513	broad.mit.edu	37	chr18	64172366	64172366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggttttccgagtcttgcGttcccgcattatggtactac	10	10	1	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr18:64172366G>A	uc002lkc.1	-	12	2140	c.2002C>T	c.(2002-2004)CGC>TGC	p.R668C	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_3'UTR	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	668	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				CGAGTCTTGCGTTCCCGCATT	0.468													A	64172366	G	A	64172366	3	1	81	1	0	0	0	0	1	0	0	0	3104	1145	40	1	320	1	CDH19	18	64172366	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	19612388	64172366	13904882	200	55369											
DSEL	92126	broad.mit.edu	37	chr18	65181696	65181696	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcagcttttggttgggtctGaaatcttgcactttctgtgt	10	7	4	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr18:65181696G>T	uc002lke.1	-	2	1404	c.180C>A	c.(178-180)TTC>TTA	p.F60L		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	50						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				GGTTGGGTCTGAAATCTTGCA	0.373													T	65181696	G	T	65181696	3	4	81	1	0	0	0	0	1	0	0	0	4775	1281	45	5	3492	5	DSEL	18	65181696	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	1009330	65181696	12895552	201	55370											
ABCA7	10347	broad.mit.edu	37	chr19	1056917	1056917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacctccaggatggcctcctCggtggacgtcctcgtctcca	10	17	1	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr19:1056917C>T	uc002lqw.3	+	34	4829	c.4598C>T	c.(4597-4599)TCG>TTG	p.S1533L	ABCA7_uc002lqy.2_Missense_Mutation_p.S4L|ABCA7_uc010dsc.2_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1533	Extracellular (By similarity).				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGCCTCCTCGGTGGACGTC	0.567													T	1056917	C	T	1056917	3	4	81	1	0	0	0	0	1	0	0	0	37	893	31	1	4728	1	ABCA7	19	1056917	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08		1056917	58072066	202	55371											
ACTL9	284382	broad.mit.edu	37	chr19	8808001	8808001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctgcccggaagcgaccctCgaagccggtgaagagcgagg	15	13	1	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr19:8808001C>T	uc002mkl.2	-	1	1172	c.1051G>A	c.(1051-1053)GAG>AAG	p.E351K		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	351						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						AAGCGACCCTCGAAGCCGGTG	0.647													T	8808001	C	T	8808001	3	4	81	1	0	0	0	0	1	0	0	0	203	893	31	1	203	1	ACTL9	19	8808001	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	7751084	8808001	50320982	203	55372											
MUC16	94025	broad.mit.edu	37	chr19	9071824	9071824	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactttggaaagtagaaaacTtgtgtccgtgggaaagctgg	14	5	0	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr19:9071824T>C	uc002mkp.2	-	3	15826	c.15622A>G	c.(15622-15624)AGT>GGT	p.S5208G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5210	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGTAGAAAACTTGTGTCCGTG	0.458													C	9071824	T	C	9071824	3	2	81	1	0	0	0	0	1	0	0	0	9973	1609	56	3	28229	3	MUC16	19	9071824	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	263823	9071824	50057159	204	55373											
ZNF799	90576	broad.mit.edu	37	chr19	12502756	12502756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtttgaagtgagttgtgGtaactgaaggctttcccacg	13	6	0	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr19:12502756G>A	uc010dyt.2	-	4	606	c.456C>T	c.(454-456)TAC>TAT	p.Y152Y	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	152	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						GTGAGTTGTGGTAACTGAAGG	0.413													A	12502756	G	A	12502756	2	1	81	1	0	0	0	0	0	0	0	1	18163	1256	44	4		4	ZNF799	19	12502756	Silent	SNP	G	TCGA-BR-8369-01A-11D-2340-08	3430932	12502756	46626227	205	55374											
ZNF253	56242	broad.mit.edu	37	chr19	20002426	20002426	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaagcgtgggtgagcataagGtgcacaaaggaggttataat	14	4	0	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr19:20002426G>C	uc002noj.2	+	4	462	c.370G>C	c.(370-372)GTG>CTG	p.V124L	ZNF253_uc002nok.2_Missense_Mutation_p.V48L|ZNF253_uc002nol.2_RNA	NM_021047	NP_066385	O75346	ZN253_HUMAN	zinc finger protein 253	124					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGAGCATAAGGTGCACAAAGG	0.338													C	20002426	G	C	20002426	3	2	81	1	0	0	0	0	1	0	0	0	17794	1261	44	5	384	5	ZNF253	19	20002426	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	7499670	20002426	39126557	206	55375											
FAM98C	147965	broad.mit.edu	37	chr19	38899405	38899405	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcaggtgcttatgggcaaCgttccagaccgggggggccg	16	11	1	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr19:38899405C>T	uc002oin.1	+	8	952	c.933C>T	c.(931-933)AAC>AAT	p.N311N	FAM98C_uc002oio.1_Silent_p.N229N|FAM98C_uc010xtz.1_Missense_Mutation_p.R178C	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	hypothetical protein LOC147965	311										skin(1)	1	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTATGGGCAACGTTCCAGACC	0.572													T	38899405	C	T	38899405	2	4	81	1	0	0	0	0	0	0	0	1	5658	535	19	1		1	FAM98C	19	38899405	Silent	SNP	C	TCGA-BR-8369-01A-11D-2340-08	18896979	38899405	20229578	207	55376											
PSG6	5675	broad.mit.edu	37	chr19	43420503	43420503	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccgtcatttgccctttgtaCcagatgtagccagtaagatt	8	10	1	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr19:43420503C>G	uc002ovj.1	-	2	253	c.201G>C	c.(199-201)TGG>TGC	p.W67C	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ovf.1_Missense_Mutation_p.W67C|PSG6_uc002ovg.1_Missense_Mutation_p.W67C	NM_002782	NP_002773	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6 isoform	67	Ig-like V-type.				female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)				GCCCTTTGTACCAGATGTAGC	0.438													G	43420503	C	G	43420503	3	3	81	1	0	0	0	0	1	0	0	0	12659	508	18	5	1165	5	PSG6	19	43420503	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	4521098	43420503	15708480	208	55377											
BCAM	4059	broad.mit.edu	37	chr19	45322967	45322967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccctgctgccgccagcggCgggagaagggggctccgtga	18	14	0	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr19:45322967C>T	uc002ozu.2	+	13	1791	c.1747C>T	c.(1747-1749)CGG>TGG	p.R583W	BCAM_uc002ozt.1_Missense_Mutation_p.R583W	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	583	Cytoplasmic (Potential).				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CCGCCAGCGGCGGGAGAAGGG	0.507													T	45322967	C	T	45322967	3	4	81	1	0	0	0	0	1	0	0	0	1344	759	27	1	1797	1	BCAM	19	45322967	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	1902464	45322967	13806016	209	55378											
RASIP1	54922	broad.mit.edu	37	chr19	49224062	49224062	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttggtattggttctcaaggaGacgtggccacgggaggccca	15	9	1	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr19:49224062G>C	uc002pki.2	-	12	3082	c.2885C>G	c.(2884-2886)TCT>TGT	p.S962C	MAMSTR_uc002pkg.2_5'Flank|RASIP1_uc002pkh.2_Missense_Mutation_p.S223C	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Ras-interacting protein 1	962					signal transduction	Golgi stack|perinuclear region of cytoplasm				pancreas(1)	1		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		TTCTCAAGGAGACGTGGCCAC	0.602													C	49224062	G	C	49224062	3	2	81	1	0	0	0	0	1	0	0	0	13078	942	33	5	10	5	RASIP1	19	49224062	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	3901095	49224062	9904921	210	55379											
ZNF470	388566	broad.mit.edu	37	chr19	57088195	57088195	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagctatgaccttgaatgttCaacattagggaaaaactgga	9	6	1	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr19:57088195C>A	uc002qnl.3	+	6	1074	c.398C>A	c.(397-399)TCA>TAA	p.S133*	ZNF470_uc010etn.2_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CTTGAATGTTCAACATTAGGG	0.363													A	57088195	C	A	57088195	4	1	81	1	0	0	0	0	0	1	0	0	17926	838	29	5	412	5	ZNF470	19	57088195	Nonsense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	7864133	57088195	2040788	211	55380											
ZNF772	400720	broad.mit.edu	37	chr19	57988660	57988660	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccacctgtgccgggcccatCggctcagccgccgccatcag	11	20	2	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr19:57988660C>T	uc002qot.2	-	1	279	c.18G>A	c.(16-18)CCG>CCA	p.P6P	ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Silent_p.P6P|ZNF772_uc010ygz.1_5'UTR|ZNF772_uc010yha.1_Silent_p.P6P|ZNF772_uc002qou.2_5'UTR	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	zinc finger protein 772 isoform 1	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		CCGGGCCCATCGGCTCAGCCG	0.637											OREG0025695	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	57988660	C	T	57988660	2	4	81	1	0	0	0	0	0	0	0	1	18142	871	31	1		1	ZNF772	19	57988660	Silent	SNP	C	TCGA-BR-8369-01A-11D-2340-08	900465	57988660	1140323	212	55381											
ZNF586	54807	broad.mit.edu	37	chr19	58290568	58290568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagttcactctggagcaaagCgttatgaatgcaatgaatgt	10	6	2	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr19:58290568C>T	uc002qqd.2	+	3	799	c.613C>T	c.(613-615)CGT>TGT	p.R205C	ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_Silent_p.S162S|ZNF586_uc010euh.2_Missense_Mutation_p.R162C|ZNF586_uc002qqf.1_Intron	NM_017652	NP_060122	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGAGCAAAGCGTTATGAATG	0.428													T	58290568	C	T	58290568	3	4	81	1	0	0	0	0	1	0	0	0	18016	768	27	1	623	1	ZNF586	19	58290568	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	301908	58290568	838415	213	55382											
KIF16B	55614	broad.mit.edu	37	chr20	16410511	16410511	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acttaatcagtttctaccttTaaatgatataagatgattcc	4	7	2	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr20:16410511T>G	uc002wpg.1	-	13	1577	c.1419A>C	c.(1417-1419)TTA>TTC	p.L473F	KIF16B_uc010gch.1_Missense_Mutation_p.L473F|KIF16B_uc010gci.1_Missense_Mutation_p.L473F|KIF16B_uc010gcj.1_Missense_Mutation_p.L473F	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	473					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						TTTCTACCTTTAAATGATATA	0.338													G	16410511	T	G	16410511	3	3	81	1	0	0	0	0	1	0	0	0	8278	1751	61	5	2590	5	KIF16B	20	16410511	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08		16410511	46615009	214	55383											
TTLL9	164395	broad.mit.edu	37	chr20	30526998	30526998	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacctcatgtggaatgatgGccctgttagcagagaggagg	15	7	1	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr20:30526998G>T	uc010gdx.1	+	14	1425	c.1172G>T	c.(1171-1173)GGC>GTC	p.G391V	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_Intron|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.G293V|TTLL9_uc010ztp.1_Intron|TTLL9_uc010ztq.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	391					protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGGAATGATGGCCCTGTTAGC	0.592													T	30526998	G	T	30526998	3	4	81	1	0	0	0	0	1	0	0	0	16731	1203	42	5	1222	5	TTLL9	20	30526998	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	14116487	30526998	32498522	215	55384											
MAFB	9935	broad.mit.edu	37	chr20	39317195	39317195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgggcgtcaggttgagcGcctcggggttcatctgctgg	16	12	3	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr20:39317195G>A	uc002xji.2	-	1	682	c.296C>T	c.(295-297)GCG>GTG	p.A99V		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	transcription factor MAFB	99					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		Myeloproliferative disorder(115;0.00878)				CAGGTTGAGCGCCTCGGGGTT	0.622			T	IGH@	MM								A	39317195	G	A	39317195	3	1	81	1	0	0	0	0	1	0	0	0	9158	1087	38	1	679	1	MAFB	20	39317195	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	8790197	39317195	23708325	216	55385											
PTPRT	11122	broad.mit.edu	37	chr20	40770578	40770578	+	Missense_Mutation	SNP	T	T	A													atatgatgttcccatatcgaTtcttattgcggttttcatcc							TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr20:40770578T>A	uc002xkg.2	-	18	2931	c.2747A>T	c.(2746-2748)AAT>ATT	p.N916I	PTPRT_uc010ggj.2_Missense_Mutation_p.N935I|PTPRT_uc010ggi.2_Missense_Mutation_p.N119I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	916	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				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)				CCCATATCGATTCTTATTGCG	0.488													A	40770578	T	A	40770578	3	1	81	1	0	0	0	0	1	0	0	0	12812	1493	52	5	1634	5	PTPRT	20	40770578	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	1453383	40770578	22254942	217	55386	235	2									
PTPRT	11122	broad.mit.edu	37	chr20	40770584	40770584	+	Missense_Mutation	SNP	T	T	G													tgttcccatatcgattcttaTtgcggttttcatcctccttg							TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr20:40770584T>G	uc002xkg.2	-	18	2925	c.2741A>C	c.(2740-2742)AAT>ACT	p.N914T	PTPRT_uc010ggj.2_Missense_Mutation_p.N933T|PTPRT_uc010ggi.2_Missense_Mutation_p.N117T	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	914	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				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)				TCGATTCTTATTGCGGTTTTC	0.493													G	40770584	T	G	40770584	3	3	81	1	0	0	0	0	1	0	0	0	12812	1493	52	5	1640	5	PTPRT	20	40770584	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	6	40770584	22254936	218	55387	235	2									
KCNQ2	3785	broad.mit.edu	37	chr20	62038613	62038613	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttccgggctgtggtacggcGgcgccggctccggctctttg	16	14	1	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr20:62038613G>T	uc002yey.1	-	17	2180	c.2003C>A	c.(2002-2004)CCG>CAG	p.P668Q	KCNQ2_uc002yez.1_Missense_Mutation_p.P637Q|KCNQ2_uc002yfa.1_Missense_Mutation_p.P650Q|KCNQ2_uc002yfb.1_Missense_Mutation_p.P640Q	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	668	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GTGGTACGGCGGCGCCGGCTC	0.622													T	62038613	G	T	62038613	3	4	81	1	0	0	0	0	1	0	0	0	8083	1116	39	5	619	5	KCNQ2	20	62038613	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08	21268029	62038613	986907	219	55388											
NCAM2	4685	broad.mit.edu	37	chr21	22906909	22906909	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgagaacagaggatgaaagAgttactaatcacgaagatgg	12	4	1	5			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr21:22906909A>T	uc002yld.1	+	17	2583	c.2334A>T	c.(2332-2334)AGA>AGT	p.R778S	NCAM2_uc011acb.1_Missense_Mutation_p.R636S	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	778	Cytoplasmic (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGGATGAAAGAGTTACTAATC	0.398													T	22906909	A	T	22906909	3	4	81	1	0	0	0	0	1	0	0	0	10203	301	11	5	2400	5	NCAM2	21	22906909	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08		22906909	25222986	220	55389											
RCAN1	1827	broad.mit.edu	37	chr21	35893851	35893851	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagtttatgactggggtcgCatcttccacttgtttccatc	8	10	1	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr21:35893851C>A	uc002yue.2	-	3	604	c.532G>T	c.(532-534)GCG>TCG	p.A178S	RCAN1_uc002yuc.2_Missense_Mutation_p.A97S|RCAN1_uc002yud.2_Missense_Mutation_p.A43S|RCAN1_uc002yub.2_Missense_Mutation_p.A123S|RCAN1_uc011adx.1_Missense_Mutation_p.A123S	NM_004414	NP_004405	P53805	RCAN1_HUMAN	calcipressin 1 isoform a	178					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0						ACTGGGGTCGCATCTTCCACT	0.577													A	35893851	C	A	35893851	3	1	81	1	0	0	0	0	1	0	0	0	13168	710	25	5	234	5	RCAN1	21	35893851	Missense_Mutation	SNP	C	TCGA-BR-8369-01A-11D-2340-08	12986942	35893851	12236044	221	55390											
CECR2	27443	broad.mit.edu	37	chr22	18020105	18020105	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtcttcctatagagtaTaccaagatgtctgataattt	6	8	2	3			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr22:18020105T>A	uc010gqw.1	+	13	1560	c.1434T>A	c.(1432-1434)TAT>TAA	p.Y478*	CECR2_uc010gqv.1_Nonsense_Mutation_p.Y337*|CECR2_uc002zml.2_Nonsense_Mutation_p.Y337*	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	520	Bromo.				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		CTATAGAGTATACCAAGATGT	0.348													A	18020105	T	A	18020105	4	1	81	1	0	0	0	0	0	1	0	0	3206	1413	49	5	1486	5	CECR2	22	18020105	Nonsense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08		18020105	33284461	222	55391											
VPREB1	7441	broad.mit.edu	37	chr22	22599607	22599607	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggccaggaacagggggtAtttgagcatctctgagctgc	15	8	1	2	rs143361893		TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr22:22599607A>G	uc002zvx.1	+	2	322	c.296A>G	c.(295-297)TAT>TGT	p.Y99C	LOC96610_uc011aim.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	immunoglobulin iota chain precursor	99	Ig-like V-type.|Framework-3.				immune response	extracellular region	antigen binding|protein binding				0	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		AACAGGGGGTATTTGAGCATC	0.478													G	22599607	A	G	22599607	3	3	81	1	0	0	0	0	1	0	0	0	17183	449	16	3	302	3	VPREB1	22	22599607	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	4579502	22599607	28704959	223	55392											
ADORA2A	135	broad.mit.edu	37	chr22	24837199	24837199	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccgggtcttggcagctcaTggcagtgacggagagcaggt	17	10	2	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr22:24837199T>C	uc002zzx.2	+	5	1744	c.981T>C	c.(979-981)CAT>CAC	p.H327H	ADORA2A_uc002zzy.3_Silent_p.H327H|ADORA2A_uc011ajs.1_Silent_p.H188H|ADORA2A_uc010gup.2_Silent_p.H327H|ADORA2A_uc010guq.2_Silent_p.H327H|ADORA2A_uc003aab.2_Silent_p.H327H|ADORA2A_uc003aac.2_Silent_p.H188H|C22orf45_uc003aad.1_Intron	NM_000675	NP_000666	P29274	AA2AR_HUMAN	adenosine A2a receptor	327	Cytoplasmic.				apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding				0	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TGGCAGCTCATGGCAGTGACG	0.642													C	24837199	T	C	24837199	2	2	81	1	0	0	0	0	0	0	0	1	327	1461	51	3		3	ADORA2A	22	24837199	Silent	SNP	T	TCGA-BR-8369-01A-11D-2340-08	2237592	24837199	26467367	224	55393											
RS1	6247	broad.mit.edu	37	chrX	18660255	18660255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctgaaccgtggaggtgcGgtccgagttgccatagaaga	15	8	1	3	rs61753171		TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chrX:18660255G>A	uc004cyo.2	-	6	579	c.544C>T	c.(544-546)CGC>TGC	p.R182C	CDKL5_uc004cym.2_Intron|CDKL5_uc004cyn.2_Intron	NM_000330	NP_000321	O15537	XLRS1_HUMAN	X-linked juvenile retinoschisis protein	182	F5/8 type C.		R -> C (in XLRS1).		cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				ovary(2)	2	Hepatocellular(33;0.183)					GTGGAGGTGCGGTCCGAGTTG	0.592													A	18660255	G	A	18660255	3	1	81	1	0	0	0	0	1	0	0	0	13693	1116	39	1	134	1	RS1	23	18660255	Missense_Mutation	SNP	G	TCGA-BR-8369-01A-11D-2340-08		18660255	136610305	225	55394											
TBX22	50945	broad.mit.edu	37	chrX	79279565	79279565	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tattttctttcttacaggcgGatgttcccctctgttcgggt	9	10	3	0			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chrX:79279565G>T	uc010nmg.1	+	4	494	c.360G>T	c.(358-360)CGG>CGT	p.R120R	TBX22_uc004edi.1_5'UTR|TBX22_uc004edj.1_Silent_p.R120R	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	120	T-box.				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						CTTACAGGCGGATGTTCCCCT	0.478													T	79279565	G	T	79279565	2	4	81	1	0	0	0	0	0	0	0	1	15655	1161	41	5		5	TBX22	23	79279565	Silent	SNP	G	TCGA-BR-8369-01A-11D-2340-08	60619310	79279565	75990995	226	55395											
FAM46D	169966	broad.mit.edu	37	chrX	79698243	79698243	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattgaatggttccgtagcaAgttacatacttgcaagccac	9	9	0	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chrX:79698243A>G	uc004edl.1	+	5	539	c.205A>G	c.(205-207)AGT>GGT	p.S69G	FAM46D_uc004edm.1_Missense_Mutation_p.S69G	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	hypothetical protein LOC169966	69										lung(2)	2						TTCCGTAGCAAGTTACATACT	0.378													G	79698243	A	G	79698243	3	3	81	1	0	0	0	0	1	0	0	0	5568	72	3	3	207	3	FAM46D	23	79698243	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	418678	79698243	75572317	227	55396											
CYLC1	1538	broad.mit.edu	37	chrX	83127906	83127906	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttcagagacatgacaaaAgaaaactagaagaaggccag	9	7	1	5			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chrX:83127906A>G	uc004eei.1	+	4	211	c.190A>G	c.(190-192)AGA>GGA	p.R64G	CYLC1_uc004eeh.1_Missense_Mutation_p.R63G	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	64					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						ACATGACAAAAGAAAACTAGA	0.318													G	83127906	A	G	83127906	3	3	81	1	0	0	0	0	1	0	0	0	4141	64	3	3	204	3	CYLC1	23	83127906	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	3429663	83127906	72142654	228	55397											
PCDH19	57526	broad.mit.edu	37	chrX	99551362	99551362	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggctgacctcatgcatgacTttctcgctatcagctccacg	9	14	3	2			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chrX:99551362T>A	uc010nmz.2	-	6	5036	c.3360A>T	c.(3358-3360)AAA>AAT	p.K1120N	PCDH19_uc004efw.3_Missense_Mutation_p.K1072N|PCDH19_uc004efx.3_Missense_Mutation_p.K1073N	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	1120	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						CATGCATGACTTTCTCGCTAT	0.542													A	99551362	T	A	99551362	3	1	81	1	0	0	0	0	1	0	0	0	11514	1606	56	5	90	5	PCDH19	23	99551362	Missense_Mutation	SNP	T	TCGA-BR-8369-01A-11D-2340-08	16423456	99551362	55719198	229	55398											
DCX	1641	broad.mit.edu	37	chrX	110653315	110653315	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggatccatcaatggtgtaAatgtaacgcactccctgagg	10	10	1	1			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chrX:110653315A>C	uc004epd.2	-	2	727	c.555T>G	c.(553-555)ATT>ATG	p.I185M	DCX_uc011msv.1_Missense_Mutation_p.I185M|DCX_uc004epe.2_Missense_Mutation_p.I104M|DCX_uc004epf.2_Missense_Mutation_p.I104M|DCX_uc004epg.2_Missense_Mutation_p.I104M	NM_000555	NP_000546	O43602	DCX_HUMAN	doublecortin isoform a	185	Doublecortin 1.		I -> T (in SBHX).		axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			central_nervous_system(2)|lung(1)|skin(1)	4						CAATGGTGTAAATGTAACGCA	0.517													C	110653315	A	C	110653315	3	2	81	1	0	0	0	0	1	0	0	0	4318	10	1	5	809	5	DCX	23	110653315	Missense_Mutation	SNP	A	TCGA-BR-8369-01A-11D-2340-08	11101953	110653315	44617245	230	55399											
ZBTB40	9923	broad.mit.edu	37	chr1	22816908	22816908	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatctgaaggtgctggagAgcctcattcttccccagagc	10	12	4	3			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr1:22816908A>G	uc001bft.2	+	3	978	c.467A>G	c.(466-468)GAG>GGG	p.E156G	ZBTB40_uc001bfu.2_Missense_Mutation_p.E156G|ZBTB40_uc009vqi.1_Missense_Mutation_p.E156G	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	156					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GGTGCTGGAGAGCCTCATTCT	0.517													G	22816908	A	G	22816908	3	3	82	1	0	0	0	0	1	0	0	0	17539	304	11	3	469	3	ZBTB40	1	22816908	Missense_Mutation	SNP	A	TCGA-BR-8370-01A-11D-2340-08		22816908	226433713	1	55400											
SPTA1	6708	broad.mit.edu	37	chr1	158605726	158605726	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccttggccaactctttgagCttctcccagtgttcaacaaa	7	13	3	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr1:158605726C>A	uc001fst.1	-	38	5608	c.5409G>T	c.(5407-5409)AAG>AAT	p.K1803N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1803	Spectrin 17.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					ACTCTTTGAGCTTCTCCCAGT	0.527													A	158605726	C	A	158605726	3	1	82	1	0	0	0	0	1	0	0	0	15115	796	28	5	1910	5	SPTA1	1	158605726	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	135788818	158605726	90644895	2	55401											
FCRL6	343413	broad.mit.edu	37	chr1	159779403	159779403	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtcagaacaggatgctggGaactactcctgcgaggctga	13	9	1	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr1:159779403G>A	uc001fud.3	+	5	858	c.816G>A	c.(814-816)GGG>GGA	p.G272G	FCRL6_uc001fuc.2_Silent_p.G279G|FCRL6_uc009wsz.1_Silent_p.G177G|FCRL6_uc009wta.2_Silent_p.G272G	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6 precursor	272	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.0597)					AGGATGCTGGGAACTACTCCT	0.522													A	159779403	G	A	159779403	2	1	82	1	0	0	0	0	0	0	0	1	5799	1161	41	4		4	FCRL6	1	159779403	Silent	SNP	G	TCGA-BR-8370-01A-11D-2340-08	1173677	159779403	89471218	3	55402											
ANKRD45	339416	broad.mit.edu	37	chr1	173628361	173628361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctaagagaagctgcatgGcctgttcatgatgaggattc	11	8	2	3			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr1:173628361G>A	uc001gja.1	-	2	258	c.197C>T	c.(196-198)GCC>GTC	p.A66V	ANKRD45_uc001gjb.3_Missense_Mutation_p.A66V	NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	82											0						AAGCTGCATGGCCTGTTCATG	0.458													A	173628361	G	A	173628361	3	1	82	1	0	0	0	0	1	0	0	0	673	1203	42	2	623	2	ANKRD45	1	173628361	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	13848958	173628361	75622260	4	55403											
LAD1	3898	broad.mit.edu	37	chr1	201355485	201355485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgtgacgggtgggaggCgggaggccacagtcggaggg	24	6	0	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr1:201355485C>T	uc001gwm.2	-	3	1239	c.1004G>A	c.(1003-1005)CGC>CAC	p.R335H	LAD1_uc009wzu.1_Missense_Mutation_p.R357H	NM_005558	NP_005549	O00515	LAD1_HUMAN	ladinin 1	335						basement membrane	structural molecule activity				0						GGGTGGGAGGCGGGAGGCCAC	0.662													T	201355485	C	T	201355485	3	4	82	1	0	0	0	0	1	0	0	0	8599	768	27	1	581	1	LAD1	1	201355485	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	27727124	201355485	47895136	5	55404											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209933490	209933490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtgaaagccgccgctgcCgtcccaatgtgaccacttgc	10	16	0	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr1:209933490C>T	uc001hho.2	+	3	396	c.106C>T	c.(106-108)CGT>TGT	p.R36C	TRAF3IP3_uc001hhl.2_Missense_Mutation_p.R36C|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.R36C|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.R36C|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.R36C	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	36	Cytoplasmic (Potential).					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CCGCCGCTGCCGTCCCAATGT	0.637													T	209933490	C	T	209933490	3	4	82	1	0	0	0	0	1	0	0	0	16439	652	23	1	108	1	TRAF3IP3	1	209933490	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	8578005	209933490	39317131	6	55405											
CCDC142	84865	broad.mit.edu	37	chr2	74709311	74709311	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgggacgtggctcaaggcTtttctctgtagtgtgtggta	14	8	2	0			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr2:74709311T>G	uc002slr.2	-	1	1047	c.654A>C	c.(652-654)AAA>AAC	p.K218N	TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Missense_Mutation_p.K218N|CCDC142_uc002slp.2_Missense_Mutation_p.K218N	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	218										central_nervous_system(1)	1						GGCTCAAGGCTTTTCTCTGTA	0.682													G	74709311	T	G	74709311	3	3	82	1	0	0	0	0	1	0	0	0	2776	1606	56	5	1613	5	CCDC142	2	74709311	Missense_Mutation	SNP	T	TCGA-BR-8370-01A-11D-2340-08		74709311	168490062	7	55406											
ASTL	431705	broad.mit.edu	37	chr2	96795681	96795681	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acactgggggcccaaagtggTgtgatggtgggcagcccacg	17	10	0	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr2:96795681T>C	uc010yui.1	-	8	756	c.756A>G	c.(754-756)ACA>ACG	p.T252T		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	252					proteolysis		metalloendopeptidase activity|zinc ion binding				0						CCCAAAGTGGTGTGATGGTGG	0.662													C	96795681	T	C	96795681	2	2	82	1	0	0	0	0	0	0	0	1	1063	1683	59	3		3	ASTL	2	96795681	Silent	SNP	T	TCGA-BR-8370-01A-11D-2340-08	22086370	96795681	146403692	8	55407											
CNTNAP5	129684	broad.mit.edu	37	chr2	125204502	125204502	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcgagacggatgccttagaCattgactatgaggtgagttg	15	6	0	5			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr2:125204502C>A	uc002tno.2	+	6	1270	c.906C>A	c.(904-906)GAC>GAA	p.D302E	CNTNAP5_uc010flu.2_Missense_Mutation_p.D302E	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	302	Laminin G-like 1.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATGCCTTAGACATTGACTATG	0.552													A	125204502	C	A	125204502	3	1	82	1	0	0	0	0	1	0	0	0	3650	477	17	5	928	5	CNTNAP5	2	125204502	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	28408821	125204502	117994871	9	55408											
TTN	7273	broad.mit.edu	37	chr2	179605938	179605938	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctctgctttacagatatagaGgccactgtcttccctctgag	8	12	3	3			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr2:179605938G>C	uc010zfh.1	-	46	11733	c.11509C>G	c.(11509-11511)CTC>GTC	p.L3837V	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.L3770V|TTN_uc010zfj.1_Missense_Mutation_p.L3645V|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGATATAGAGGCCACTGTCT	0.458													C	179605938	G	C	179605938	3	2	82	1	0	0	0	0	1	0	0	0	16732	1000	35	5	92767	5	TTN	2	179605938	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	54401436	179605938	63593435	10	55409											
NEUROD1	4760	broad.mit.edu	37	chr2	182542847	182542847	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcgctgcgctgtaggcGtgcggcggaggcttaacgtg	17	11	0	0			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr2:182542847G>A	uc002uof.2	-	2	977	c.741C>T	c.(739-741)CAC>CAT	p.H247H	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	247					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGCTGTAGGCGTGCGGCGGAG	0.612													A	182542847	G	A	182542847	2	1	82	1	0	0	0	0	0	0	0	1	10348	1136	40	1		1	NEUROD1	2	182542847	Silent	SNP	G	TCGA-BR-8370-01A-11D-2340-08	2936909	182542847	60656526	11	55410											
ERBB4	2066	broad.mit.edu	37	chr2	212543834	212543834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctactgaagcggcgacacGacagacattggtctggccca	11	13	2	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr2:212543834G>A	uc002veg.1	-	13	1663	c.1565C>T	c.(1564-1566)TCG>TTG	p.S522L	ERBB4_uc002veh.1_Missense_Mutation_p.S522L|ERBB4_uc010zji.1_Missense_Mutation_p.S522L|ERBB4_uc010zjj.1_Missense_Mutation_p.S522L|ERBB4_uc010fut.1_Missense_Mutation_p.S522L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	522	Extracellular (Potential).|Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCGGCGACACGACAGACATTG	0.502										TSP Lung(8;0.080)			A	212543834	G	A	212543834	3	1	82	1	0	0	0	0	1	0	0	0	5209	1059	37	1	2425	1	ERBB4	2	212543834	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	30000987	212543834	30655539	12	55411											
EFHB	151651	broad.mit.edu	37	chr3	19961394	19961394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggatcatttgctcttccGtaaaatactctttctactcc	6	11	4	0			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr3:19961394G>A	uc003cbl.3	-	3	1123	c.927C>T	c.(925-927)TAC>TAT	p.Y309Y	EFHB_uc003cbm.2_Silent_p.Y179Y	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	309					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0						TTGCTCTTCCGTAAAATACTC	0.348													A	19961394	G	A	19961394	2	1	82	1	0	0	0	0	0	0	0	1	4945	1140	40	1		1	EFHB	3	19961394	Silent	SNP	G	TCGA-BR-8370-01A-11D-2340-08		19961394	178061036	13	55412											
NEK10	152110	broad.mit.edu	37	chr3	27326409	27326409	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactgaaatgctctccaagCggggctccttctatcagctc	9	13	3	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr3:27326409C>T	uc003cdt.1	-	22	2107	c.1833G>A	c.(1831-1833)CCG>CCA	p.P611P	NEK10_uc003cds.1_Silent_p.P8P	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10 isoform 3	611	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						GCTCTCCAAGCGGGGCTCCTT	0.328													T	27326409	C	T	27326409	2	4	82	1	0	0	0	0	0	0	0	1	10322	755	27	1		1	NEK10	3	27326409	Silent	SNP	C	TCGA-BR-8370-01A-11D-2340-08	7365015	27326409	170696021	14	55413											
ULK4	54986	broad.mit.edu	37	chr3	41288432	41288432	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttgcctagtgcccaacGgcttggaggatttccagggc	12	12	1	0			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr3:41288432G>A	uc003ckv.3	-	37	4017	c.3816C>T	c.(3814-3816)GCC>GCT	p.A1272A	ULK4_uc003cku.3_RNA	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	1272							ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGTGCCCAACGGCTTGGAGGA	0.537													A	41288432	G	A	41288432	2	1	82	1	0	0	0	0	0	0	0	1	16975	1103	39	1		1	ULK4	3	41288432	Silent	SNP	G	TCGA-BR-8370-01A-11D-2340-08	13962023	41288432	156733998	15	55414											
NKTR	4820	broad.mit.edu	37	chr3	42680413	42680413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaggtaaacatgatacaGtgactgtttcatcagatctt	7	7	4	3			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr3:42680413G>A	uc003clo.2	+	13	3364	c.3217G>A	c.(3217-3219)GTG>ATG	p.V1073M	NKTR_uc003clm.1_Missense_Mutation_p.V820M|NKTR_uc003clp.2_Missense_Mutation_p.V820M|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.V963M|NKTR_uc003clr.1_Missense_Mutation_p.V820M|NKTR_uc003cls.2_Missense_Mutation_p.V773M	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1073					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ACATGATACAGTGACTGTTTC	0.323													A	42680413	G	A	42680413	3	1	82	1	0	0	0	0	1	0	0	0	10448	1029	36	4	3263	4	NKTR	3	42680413	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	1391981	42680413	155342017	16	55415											
ATXN7	6314	broad.mit.edu	37	chr3	63981543	63981551	+	In_Frame_Del	DEL	CCAAGGAGT	CCAAGGAGT	-													atccagcaaatctttgaggcCcaaggagtcttctggtaaca							TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr3:63981542_63981550CCCAAGGAGT>C	uc003dlv.3	+	11	2597_2605	c.2044_2052CCCAAGGAGT>C	c.(2044-2052)cccaaggag>C	p.PKE682del	ATXN7_uc003dlw.4_In_Frame_Del_p.PKE682del|ATXN7_uc021wzy.1_In_Frame_Del_p.PKE682del|ATXN7_uc011bfn.2_In_Frame_Del_p.PKE537del	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	682	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		ATCTTTGAGGCCCAAGGAGTCTTCTGGTA	0.502													-	63981551	CCAAGGAGT	-	63981543	7	5	82	1	0	1	0	1	0	0	0	0	1215	623	22	0	2151	0	ATXN7	3	63981543	In_Frame_Del	DEL	CCAAGGAGT	TCGA-BR-8370-01A-11D-2340-08	21301130	63981543	134040887	17	55416											
ARL6IP5	10550	broad.mit.edu	37	chr3	69134225	69134225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttaatatcgccccactccgCgcctgggacgatttcttccc	8	16	1	0			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr3:69134225C>T	uc003dnr.2	+	1	136	c.27C>T	c.(25-27)CGC>CGT	p.R9R		NM_006407	NP_006398	O75915	PRAF3_HUMAN	ADP-ribosylation-like factor 6 interacting	9	Cytoplasmic (By similarity).				L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		CCCCACTCCGCGCCTGGGACG	0.582													T	69134225	C	T	69134225	2	4	82	1	0	0	0	0	0	0	0	1	944	755	27	1		1	ARL6IP5	3	69134225	Silent	SNP	C	TCGA-BR-8370-01A-11D-2340-08	5152682	69134225	128888205	18	55417											
MITF	4286	broad.mit.edu	37	chr3	70014308	70014308	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccgtcggtgtcactgAtccactcctttcctcagtgt	7	15	3	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr3:70014308A>G	uc003dnz.2	+	10	1588	c.1472A>G	c.(1471-1473)GAT>GGT	p.D491G	MITF_uc011bgb.1_Missense_Mutation_p.D439G|MITF_uc003doa.2_Missense_Mutation_p.D490G|MITF_uc003dob.2_Missense_Mutation_p.D475G|MITF_uc003dod.2_Missense_Mutation_p.D466G|MITF_uc003doe.2_Missense_Mutation_p.D384G|MITF_uc003dof.2_Missense_Mutation_p.D390G	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	497					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		GGTGTCACTGATCCACTCCTT	0.542			A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome						G	70014308	A	G	70014308	3	3	82	1	0	0	0	0	1	0	0	0	9596	333	12	3	1749	3	MITF	3	70014308	Missense_Mutation	SNP	A	TCGA-BR-8370-01A-11D-2340-08	880083	70014308	128008122	19	55418											
FSTL1	11167	broad.mit.edu	37	chr3	120128474	120128474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccactggatgatgcgacGtcggagctcatcacggttgg	14	11	2	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr3:120128474G>A	uc003eds.2	-	6	542	c.367C>T	c.(367-369)CGT>TGT	p.R123C	FSTL1_uc011bjh.1_Missense_Mutation_p.R88C	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	follistatin-like 1 precursor	123					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.189)		ATGATGCGACGTCGGAGCTCA	0.502													A	120128474	G	A	120128474	3	1	82	1	0	0	0	0	1	0	0	0	6077	1145	40	1	583	1	FSTL1	3	120128474	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	50114166	120128474	77893956	20	55419											
MED12L	116931	broad.mit.edu	37	chr3	150834128	150834128	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taccgtctcttgaacaggatGaacttactgctgtgaatgta	9	8	1	3			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr3:150834128G>A	uc003eyp.2	+	2	141	c.103G>A	c.(103-105)GAA>AAA	p.E35K	MED12L_uc011bnz.1_Missense_Mutation_p.E35K|MED12L_uc003eym.1_Missense_Mutation_p.E35K|MED12L_uc003eyn.2_Missense_Mutation_p.E35K|MED12L_uc003eyo.2_Missense_Mutation_p.E35K	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	35					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGAACAGGATGAACTTACTGC	0.378													A	150834128	G	A	150834128	3	1	82	1	0	0	0	0	1	0	0	0	9429	1291	45	4	109	4	MED12L	3	150834128	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	30705654	150834128	47188302	21	55420											
IGSF10	285313	broad.mit.edu	37	chr3	151165492	151165492	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctttttagctttctccaaCagtgccgcccaatgttgtgg	8	11	2	0			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr3:151165492C>A	uc011bod.1	-	4	2277	c.2277G>T	c.(2275-2277)CTG>CTT	p.L759L		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	759					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTTTCTCCAACAGTGCCGCCC	0.507													A	151165492	C	A	151165492	2	1	82	1	0	0	0	0	0	0	0	1	7597	465	17	5		5	IGSF10	3	151165492	Silent	SNP	C	TCGA-BR-8370-01A-11D-2340-08	331364	151165492	46856938	22	55421											
GAK	2580	broad.mit.edu	37	chr4	877125	877125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgtggaacctggagggcCggtaggtcctcggggacagg	20	8	0	0	rs145652195	byFrequency	TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr4:877125C>T	uc003gbm.3	-	13	1581	c.1382G>A	c.(1381-1383)CGG>CAG	p.R461Q	GAK_uc003gbn.3_Missense_Mutation_p.R382Q|GAK_uc010ibk.1_Missense_Mutation_p.R355Q|GAK_uc003gbl.3_Missense_Mutation_p.R325Q	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	461	Phosphatase tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		CCTGGAGGGCCGGTAGGTCCT	0.592													T	877125	C	T	877125	3	4	82	1	0	0	0	0	1	0	0	0	6195	652	23	1	2617	1	GAK	4	877125	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08		877125	190277151	23	55422											
HTT	3064	broad.mit.edu	37	chr4	3134614	3134614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgagtcttctgttacttgCaagttagcttgtacagctgt	10	7	2	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr4:3134614C>T	uc011bvq.1	+	19	2620	c.2475C>T	c.(2473-2475)TGC>TGT	p.C825C		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	823	HEAT 4.			C -> S (in Ref. 2; BAA36753).	establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTGTTACTTGCAAGTTAGCTT	0.388													T	3134614	C	T	3134614	2	4	82	1	0	0	0	0	0	0	0	1	7457	718	25	2		2	HTT	4	3134614	Silent	SNP	C	TCGA-BR-8370-01A-11D-2340-08	2257489	3134614	188019662	24	55423											
AFAP1	60312	broad.mit.edu	37	chr4	7787971	7787971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaagtgccgtcccgctggGgtgggcatagccgttggagg	18	9	0	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr4:7787971G>A	uc003gkg.1	-	12	1753	c.1480C>T	c.(1480-1482)CCC>TCC	p.P494S	AFAP1_uc011bwk.1_Missense_Mutation_p.P494S	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	494						actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						GTCCCGCTGGGGTGGGCATAG	0.498													A	7787971	G	A	7787971	3	1	82	1	0	0	0	0	1	0	0	0	353	1232	43	4	992	4	AFAP1	4	7787971	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	4653357	7787971	183366305	25	55424											
BANK1	55024	broad.mit.edu	37	chr4	102776247	102776247	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacctacgagcaaaacattcTggggaaataagtgagagaaa	11	6	1	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr4:102776247T>C	uc003hvy.3	+	3	799	c.525T>C	c.(523-525)TCT>TCC	p.S175S	BANK1_uc003hvx.3_Silent_p.S160S|BANK1_uc010ill.2_Silent_p.S42S|BANK1_uc003hvz.3_Silent_p.S145S	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	175					B cell activation					ovary(2)|skin(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CAAAACATTCTGGGGAAATAA	0.373													C	102776247	T	C	102776247	2	2	82	1	0	0	0	0	0	0	0	1	1309	1567	55	3		3	BANK1	4	102776247	Silent	SNP	T	TCGA-BR-8370-01A-11D-2340-08	94988276	102776247	88378029	26	55425											
TRPC3	7222	broad.mit.edu	37	chr4	122800956	122800956	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atgaattagaatggctaattCctcagttgcttggctcttgt	9	7	2	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr4:122800956C>A	uc003ieg.2	-	12	2775	c.2701G>T	c.(2701-2703)GAA>TAA	p.E901*	TRPC3_uc010inr.2_Nonsense_Mutation_p.E773*|TRPC3_uc003ief.2_Nonsense_Mutation_p.E828*|TRPC3_uc011cgl.1_Nonsense_Mutation_p.E565*	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	816	Extracellular (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						ATGGCTAATTCCTCAGTTGCT	0.363													A	122800956	C	A	122800956	4	1	82	1	0	0	0	0	0	1	0	0	16576	864	30	5	68	5	TRPC3	4	122800956	Nonsense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	20024709	122800956	68353320	27	55426											
PCDH10	57575	broad.mit.edu	37	chr4	134076167	134076167	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatgatgccaccaaccgtgCccagtcagctggtaagtgtg	11	12	2	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr4:134076167C>A	uc003iha.2	+	3	3612	c.2786C>A	c.(2785-2787)GCC>GAC	p.A929D		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	929	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		ACCAACCGTGCCCAGTCAGCT	0.423													A	134076167	C	A	134076167	3	1	82	1	0	0	0	0	1	0	0	0	11507	739	26	5	2856	5	PCDH10	4	134076167	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	11275211	134076167	57078109	28	55427											
LRBA	987	broad.mit.edu	37	chr4	151242451	151242451	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggctgccacgtgagtaacagGggagttggagggaaacttga	17	6	0	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr4:151242451G>C	uc010ipj.2	-	51	8029	c.7555C>G	c.(7555-7557)CCT>GCT	p.P2519A	LRBA_uc010ipi.2_Missense_Mutation_p.P41A|LRBA_uc003ils.3_Missense_Mutation_p.P414A|LRBA_uc003ilt.3_Missense_Mutation_p.P1167A|LRBA_uc003ilu.3_Missense_Mutation_p.P2508A	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2519						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					TGAGTAACAGGGGAGTTGGAG	0.512													C	151242451	G	C	151242451	3	2	82	1	0	0	0	0	1	0	0	0	8931	1232	43	5	1068	5	LRBA	4	151242451	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	17166284	151242451	39911825	29	55428											
MTRR	4552	broad.mit.edu	37	chr5	7897003	7897003	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actccaagaacaacacccagAtggaaattttggagcaatgt	8	9	0	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr5:7897003A>G	uc003jed.2	+	13	1814	c.1784A>G	c.(1783-1785)GAT>GGT	p.D595G	MTRR_uc003jee.3_Missense_Mutation_p.D568G|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	methionine synthase reductase isoform 2	595					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CAACACCCAGATGGAAATTTT	0.348													G	7897003	A	G	7897003	3	3	82	1	0	0	0	0	1	0	0	0	9961	333	12	3	1834	3	MTRR	5	7897003	Missense_Mutation	SNP	A	TCGA-BR-8370-01A-11D-2340-08		7897003	173018257	30	55429											
HTR1A	3350	broad.mit.edu	37	chr5	63256626	63256626	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaggaccagcctcgctgggCagaggcaagtgctctttgga	15	10	1	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr5:63256626C>A	uc011cqt.1	-	1	921	c.921G>T	c.(919-921)CTG>CTT	p.L307L		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	307	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCTCGCTGGGCAGAGGCAAGT	0.647													A	63256626	C	A	63256626	2	1	82	1	0	0	0	0	0	0	0	1	7436	697	25	5		5	HTR1A	5	63256626	Silent	SNP	C	TCGA-BR-8370-01A-11D-2340-08	55359623	63256626	117658634	31	55430											
MAP1B	4131	broad.mit.edu	37	chr5	71492953	71492953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagcccatcgaagagcccGtccctgagtccatctccacc	8	18	2	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr5:71492953G>A	uc003kbw.3	+	5	4012	c.3771G>A	c.(3769-3771)CCG>CCA	p.P1257P	MAP1B_uc010iyw.1_Silent_p.P1274P|MAP1B_uc010iyx.1_Silent_p.P1131P|MAP1B_uc010iyy.1_Silent_p.P1131P	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1257						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CGAAGAGCCCGTCCCTGAGTC	0.498													A	71492953	G	A	71492953	2	1	82	1	0	0	0	0	0	0	0	1	9228	1132	40	1		1	MAP1B	5	71492953	Silent	SNP	G	TCGA-BR-8370-01A-11D-2340-08	8236327	71492953	109422307	32	55431											
TNPO1	3842	broad.mit.edu	37	chr5	72157667	72157667	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caactatagcctccaagggaGaattgcagaattggcctgac	10	10	0	3			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr5:72157667G>C	uc003kck.3	+	5	535	c.388G>C	c.(388-390)GAA>CAA	p.E130Q	TNPO1_uc011csi.1_Intron|TNPO1_uc011csj.1_Missense_Mutation_p.E80Q|TNPO1_uc003kch.2_Missense_Mutation_p.E122Q|TNPO1_uc003kci.3_Missense_Mutation_p.E122Q|TNPO1_uc003kcg.3_Missense_Mutation_p.E122Q	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	130					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CTCCAAGGGAGAATTGCAGAA	0.383													C	72157667	G	C	72157667	3	2	82	1	0	0	0	0	1	0	0	0	16332	943	33	5	406	5	TNPO1	5	72157667	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	664714	72157667	108757593	33	55432											
GPR98	84059	broad.mit.edu	37	chr5	89938513	89938513	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agccgtgacctaattattttGgaaaatgatgaccctggggg	12	7	0	3			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr5:89938513G>C	uc003kju.2	+	12	2397	c.2301G>C	c.(2299-2301)TTG>TTC	p.L767F	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	767	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAATTATTTTGGAAAATGATG	0.408													C	89938513	G	C	89938513	3	2	82	1	0	0	0	0	1	0	0	0	6721	1339	47	5	2347	5	GPR98	5	89938513	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	17780846	89938513	90976747	34	55433											
ARSK	153642	broad.mit.edu	37	chr5	94918625	94918625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttgccccctcagtaatcGtgtggaagcgtggacaagag	12	9	1	1	rs149960886		TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr5:94918625G>A	uc003kld.2	+	4	580	c.422G>A	c.(421-423)CGT>CAT	p.R141H	ARSK_uc010jbg.2_Translation_Start_Site|ARSK_uc011cum.1_RNA	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	arylsulfatase K precursor	141						extracellular region	arylsulfatase activity|metal ion binding			pancreas(1)	1		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CTCAGTAATCGTGTGGAAGCG	0.373													A	94918625	G	A	94918625	3	1	82	1	0	0	0	0	1	0	0	0	996	1145	40	1	436	1	ARSK	5	94918625	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	4980112	94918625	85996635	35	55434											
SLCO6A1	133482	broad.mit.edu	37	chr5	101813546	101813546	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctggcaaccactgacaacCtttatttcttcgcaaatatc	4	13	2	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr5:101813546C>A	uc003knn.2	-	3	808	c.636G>T	c.(634-636)AAG>AAT	p.K212N	SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.K212N|SLCO6A1_uc003knq.2_Intron	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	212	Extracellular (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CACTGACAACCTTTATTTCTT	0.338													A	101813546	C	A	101813546	3	1	82	1	0	0	0	0	1	0	0	0	14732	680	24	5	1567	5	SLCO6A1	5	101813546	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	6894921	101813546	79101714	36	55435											
IRF1	3659	broad.mit.edu	37	chr5	131823676	131823676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgatgtcccagccatgCttggcagcatgcttccatgg	11	11	0	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr5:131823676C>T	uc003kxa.2	-	3	363	c.129G>A	c.(127-129)AAG>AAA	p.K43K	IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Silent_p.K43K|IRF1_uc010jdt.1_Silent_p.K43K	NM_002198	NP_002189	P10914	IRF1_HUMAN	interferon regulatory factor 1	43	IRF tryptophan pentad repeat.				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm					0		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CCCAGCCATGCTTGGCAGCAT	0.537													T	131823676	C	T	131823676	2	4	82	1	0	0	0	0	0	0	0	1	7827	796	28	2		2	IRF1	5	131823676	Silent	SNP	C	TCGA-BR-8370-01A-11D-2340-08	30010130	131823676	49091584	37	55436											
PCDHB7	56129	broad.mit.edu	37	chr5	140553614	140553614	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagccatctgtcgaaaacTtctatactctggtaacagag	8	9	3	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr5:140553614T>G	uc003lit.2	+	1	1372	c.1198T>G	c.(1198-1200)TTC>GTC	p.F400V		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	400	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTCGAAAACTTCTATACTCT	0.478													G	140553614	T	G	140553614	3	3	82	1	0	0	0	0	1	0	0	0	11547	1609	56	5	1200	5	PCDHB7	5	140553614	Missense_Mutation	SNP	T	TCGA-BR-8370-01A-11D-2340-08	8729938	140553614	40361646	38	55437											
FGF18	8817	broad.mit.edu	37	chr5	170863172	170863172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctcgggacgatgtgagcCgtaagcagctgcggctgtac	17	10	0	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr5:170863172C>T	uc003mbk.2	+	3	682	c.145C>T	c.(145-147)CGT>TGT	p.R49C		NM_003862	NP_003853	O76093	FGF18_HUMAN	fibroblast growth factor 18 precursor	49					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CGATGTGAGCCGTAAGCAGCT	0.627													T	170863172	C	T	170863172	3	4	82	1	0	0	0	0	1	0	0	0	5846	652	23	1	155	1	FGF18	5	170863172	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	30309558	170863172	10052088	39	55438											
DBN1	1627	broad.mit.edu	37	chr5	176886156	176886156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcgaggaggtgacctcatCcagggcccgctctatctgct	12	14	3	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr5:176886156C>T	uc003mgy.2	-	11	1241	c.1069G>A	c.(1069-1071)GAT>AAT	p.D357N	DBN1_uc011dga.1_Missense_Mutation_p.D89N|DBN1_uc003mgx.2_Missense_Mutation_p.D359N|DBN1_uc010jkn.1_Missense_Mutation_p.D307N|DBN1_uc003mgz.1_Missense_Mutation_p.D340N	NM_004395	NP_004386	Q16643	DREB_HUMAN	drebrin 1 isoform a	357					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|ovary(1)|lung(1)|skin(1)	6	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGACCTCATCCAGGGCCCGC	0.677													T	176886156	C	T	176886156	3	4	82	1	0	0	0	0	1	0	0	0	4252	855	30	4	896	4	DBN1	5	176886156	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	6022984	176886156	4029104	40	55439											
HIVEP1	3096	broad.mit.edu	37	chr6	12120918	12120918	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttcccaaatccaaccaacAtaatcaacagcttccggggt	6	13	1	0			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr6:12120918A>G	uc003nac.2	+	4	1069	c.890A>G	c.(889-891)CAT>CGT	p.H297R	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	297					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCCAACCAACATAATCAACAG	0.418													G	12120918	A	G	12120918	3	3	82	1	0	0	0	0	1	0	0	0	7186	217	8	3	900	3	HIVEP1	6	12120918	Missense_Mutation	SNP	A	TCGA-BR-8370-01A-11D-2340-08		12120918	158994149	41	55440											
HIST1H2BD	3017	broad.mit.edu	37	chr6	26158551	26158551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctgaagcaggtccatcccGacaccggcatctcttccaag	9	15	1	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr6:26158551G>A	uc003ngr.2	+	1	203	c.154G>A	c.(154-156)GAC>AAC	p.D52N	HIST1H2BD_uc003ngs.2_Missense_Mutation_p.D52N	NM_021063	NP_066407	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	52					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|pancreas(1)	2						GGTCCATCCCGACACCGGCAT	0.557													A	26158551	G	A	26158551	3	1	82	1	0	0	0	0	1	0	0	0	7143	1058	37	1	156	1	HIST1H2BD	6	26158551	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	14037633	26158551	144956516	42	55441											
ZNF184	7738	broad.mit.edu	37	chr6	27420700	27420700	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctcttttttaactgggtttGaattctgtttgatgcttctt	7	6	3	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr6:27420700G>T	uc003njj.2	-	5	1449	c.638C>A	c.(637-639)TCA>TAA	p.S213*	ZNF184_uc010jqv.2_Nonsense_Mutation_p.S213*|ZNF184_uc003nji.2_Nonsense_Mutation_p.S213*	NM_007149	NP_009080	Q99676	ZN184_HUMAN	zinc finger protein 184	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AACTGGGTTTGAATTCTGTTT	0.363													T	27420700	G	T	27420700	4	4	82	1	0	0	0	0	0	1	0	0	17748	1294	45	5	1621	5	ZNF184	6	27420700	Nonsense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	1262149	27420700	143694367	43	55442											
PKHD1	5314	broad.mit.edu	37	chr6	51910975	51910975	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggtgatgagcagaaatttGtacagggacatctgtgagag	14	4	1	4			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr6:51910975G>T	uc003pah.1	-	24	2695	c.2419C>A	c.(2419-2421)CAA>AAA	p.Q807K	PKHD1_uc003pai.2_Missense_Mutation_p.Q807K	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	807	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					GCAGAAATTTGTACAGGGACA	0.418													T	51910975	G	T	51910975	3	4	82	1	0	0	0	0	1	0	0	0	11971	1386	48	5	10020	5	PKHD1	6	51910975	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	24490275	51910975	119204092	44	55443											
COL12A1	1303	broad.mit.edu	37	chr6	75865563	75865563	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtttctaggagacttaaaCcgagaagctgtaaagacaaa	10	6	1	3			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr6:75865563C>A	uc003phs.2	-	16	3424	c.3258G>T	c.(3256-3258)CGG>CGT	p.R1086R	COL12A1_uc003pht.2_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1086	Fibronectin type-III 8.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GAGACTTAAACCGAGAAGCTG	0.398													A	75865563	C	A	75865563	2	1	82	1	0	0	0	0	0	0	0	1	3669	494	18	5		5	COL12A1	6	75865563	Silent	SNP	C	TCGA-BR-8370-01A-11D-2340-08	23954588	75865563	95249504	45	55444											
MEOX2	4223	broad.mit.edu	37	chr7	15652168	15652168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagttccttttcccgagcCgcagctccttgctgtccacc	7	18	0	0			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr7:15652168C>T	uc003stc.2	-	3	1040	c.759G>A	c.(757-759)GCG>GCA	p.A253A	MEOX2_uc011jxw.1_Silent_p.A253A	NM_005924	NP_005915	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	253					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TTTCCCGAGCCGCAGCTCCTT	0.507													T	15652168	C	T	15652168	2	4	82	1	0	0	0	0	0	0	0	1	9474	639	23	1		1	MEOX2	7	15652168	Silent	SNP	C	TCGA-BR-8370-01A-11D-2340-08		15652168	143486495	46	55445											
NOD1	10392	broad.mit.edu	37	chr7	30492160	30492160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcggctcaggtccaagtcCgagtgcagctcgtccaggcc	13	15	1	0			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr7:30492160C>T	uc003tav.2	-	6	1396	c.873G>A	c.(871-873)TCG>TCA	p.S291S	NOD1_uc010kvs.2_Missense_Mutation_p.R246Q	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	291	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2						GGTCCAAGTCCGAGTGCAGCT	0.662													T	30492160	C	T	30492160	2	4	82	1	0	0	0	0	0	0	0	1	10516	639	23	1		1	NOD1	7	30492160	Silent	SNP	C	TCGA-BR-8370-01A-11D-2340-08	14839992	30492160	128646503	47	55446											
GLI3	2737	broad.mit.edu	37	chr7	42005114	42005114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccaaaggcgcgagtctgcGgcacagcgggccgcggccca	15	16	1	0			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr7:42005114G>A	uc011kbh.1	-	15	3648	c.3557C>T	c.(3556-3558)CCG>CTG	p.P1186L	GLI3_uc011kbg.1_Missense_Mutation_p.P1127L	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1186					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GCGAGTCTGCGGCACAGCGGG	0.657									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42005114	G	A	42005114	3	1	82	1	0	0	0	0	1	0	0	0	6439	1116	39	1	1189	1	GLI3	7	42005114	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	11512954	42005114	117133549	48	55447											
ABCB1	5243	broad.mit.edu	37	chr7	87179298	87179298	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggcaaacaatacaggttcctGactcaccacaccaatgattt	6	12	1	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr7:87179298G>T	uc003uiz.1	-	14	1841	c.1423C>A	c.(1423-1425)CAG>AAG	p.Q475K	ABCB1_uc011khc.1_Missense_Mutation_p.Q411K	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	475	ABC transporter 1.|Cytoplasmic (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ACAGGTTCCTGACTCACCACA	0.423													T	87179298	G	T	87179298	3	4	82	1	0	0	0	0	1	0	0	0	40	1299	45	5	2483	5	ABCB1	7	87179298	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	45174184	87179298	71959365	49	55448											
SAMD9L	219285	broad.mit.edu	37	chr7	92763591	92763591	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagagcttgatagaaagccCagaaagtttcaatgagtgga	12	5	1	5			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr7:92763591C>A	uc003umh.1	-	5	2910	c.1694G>T	c.(1693-1695)TGG>TTG	p.W565L	SAMD9L_uc003umj.1_Missense_Mutation_p.W565L|SAMD9L_uc003umi.1_Missense_Mutation_p.W565L|SAMD9L_uc010lfb.1_Missense_Mutation_p.W565L|SAMD9L_uc003umk.1_Missense_Mutation_p.W565L|SAMD9L_uc010lfc.1_Missense_Mutation_p.W565L|SAMD9L_uc010lfd.1_Missense_Mutation_p.W565L|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	565										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATAGAAAGCCCAGAAAGTTTC	0.353													A	92763591	C	A	92763591	3	1	82	1	0	0	0	0	1	0	0	0	13827	595	21	5	3064	5	SAMD9L	7	92763591	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	5584293	92763591	66375072	50	55449											
NRCAM	4897	broad.mit.edu	37	chr7	107790508	107790508	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctccatagtcaactagGctgtcgtcactatcttcttt	5	13	5	0			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr7:107790508G>A	uc003vfb.2	-	33	4233	c.3762C>T	c.(3760-3762)AGC>AGT	p.S1254S	NRCAM_uc003vfc.2_Silent_p.S1133S|NRCAM_uc011kmk.1_Silent_p.S1156S|NRCAM_uc003vfd.2_Silent_p.S1137S|NRCAM_uc003vfe.2_Silent_p.S1125S|NRCAM_uc003vez.2_Silent_p.S37S|NRCAM_uc003vfa.2_Silent_p.S98S|NRCAM_uc011kmj.1_Silent_p.S100S	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	1254	Cytoplasmic (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						AGTCAACTAGGCTGTCGTCAC	0.438													A	107790508	G	A	107790508	2	1	82	1	0	0	0	0	0	0	0	1	10644	1194	42	2		2	NRCAM	7	107790508	Silent	SNP	G	TCGA-BR-8370-01A-11D-2340-08	15026917	107790508	51348155	51	55450											
CPA1	1357	broad.mit.edu	37	chr7	130022031	130022031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaacacctatgaagggcGtcccatttacgtgctgaagg	12	10	0	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr7:130022031G>A	uc003vpx.2	+	4	536	c.464G>A	c.(463-465)CGT>CAT	p.R155H	CPA1_uc011kpf.1_Missense_Mutation_p.R67H|CPA1_uc003vpw.2_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	carboxypeptidase A1 precursor	155					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					TATGAAGGGCGTCCCATTTAC	0.552													A	130022031	G	A	130022031	3	1	82	1	0	0	0	0	1	0	0	0	3789	1145	40	1	478	1	CPA1	7	130022031	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	22231523	130022031	29116632	52	55451											
DENND2A	27147	broad.mit.edu	37	chr7	140285465	140285465	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttctttcccaggcagcgaCcatgtaactcgatgtcctca	7	14	2	0			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr7:140285465C>A	uc010lnj.2	-	3	1314	c.1169G>T	c.(1168-1170)GGT>GTT	p.G390V	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.G390V|DENND2A_uc003vvw.2_Missense_Mutation_p.G390V|DENND2A_uc003vvx.2_Missense_Mutation_p.G390V	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	390										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					CAGGCAGCGACCATGTAACTC	0.502													A	140285465	C	A	140285465	3	1	82	1	0	0	0	0	1	0	0	0	4429	507	18	5	1924	5	DENND2A	7	140285465	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	10263434	140285465	18853198	53	55452											
MLL3	58508	broad.mit.edu	37	chr7	151927335	151927335	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacttgtcactgctagaAaacaacacaactgtattgtg	8	8	1	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr7:151927335A>G	uc003wla.2	-	17	3060	c.2841T>C	c.(2839-2841)TTT>TTC	p.F947F	MLL3_uc003wkz.2_Silent_p.F8F	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	947					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CACTGCTAGAAAACAACACAA	0.338			N		medulloblastoma								G	151927335	A	G	151927335	2	3	82	1	0	0	0	0	0	0	0	1	9622	11	1	3		3	MLL3	7	151927335	Silent	SNP	A	TCGA-BR-8370-01A-11D-2340-08	11641870	151927335	7211328	54	55453											
CSMD1	64478	broad.mit.edu	37	chr8	2823423	2823423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtcttgttgaaggtgaagtCggtcccaaactggatgccat	12	8	1	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr8:2823423C>T	uc011kwk.1	-	59	9547	c.9157G>A	c.(9157-9159)GAC>AAC	p.D3053N	CSMD1_uc011kwj.1_Missense_Mutation_p.D2382N|CSMD1_uc010lrg.2_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3053	Extracellular (Potential).|Sushi 24.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGGTGAAGTCGGTCCCAAAC	0.463													T	2823423	C	T	2823423	3	4	82	1	0	0	0	0	1	0	0	0	3944	884	31	1	1588	1	CSMD1	8	2823423	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08		2823423	143540599	55	55454											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19362779	19362779	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctgcaggactgttcagggtCtccaaggctgattcaatggc	12	10	4	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr8:19362779C>A	uc011kyn.1	-	4	1631	c.567G>T	c.(565-567)GAG>GAT	p.E189D	CSGALNACT1_uc011kyo.1_Missense_Mutation_p.E189D|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.E188D|CSGALNACT1_uc003wzh.2_RNA	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate	189	Lumenal (Potential).				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)		TGTTCAGGGTCTCCAAGGCTG	0.537													A	19362779	C	A	19362779	3	1	82	1	0	0	0	0	1	0	0	0	3938	912	32	5	1059	5	CSGALNACT1	8	19362779	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	16539356	19362779	127001243	56	55455											
KCTD9	54793	broad.mit.edu	37	chr8	25287389	25287389	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	attctcatctgacactttgtGacatgtgtagtggtgtcagc	10	8	3	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr8:25287389G>C	uc003xeo.2	-	12	1312	c.1154C>G	c.(1153-1155)TCA>TGA	p.S385*	PPP2R2A_uc003xek.2_Intron|KCTD9_uc011lad.1_RNA	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	potassium channel tetramerisation domain	385						voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		GACACTTTGTGACATGTGTAG	0.423													C	25287389	G	C	25287389	4	2	82	1	0	0	0	0	0	1	0	0	8116	1294	45	5	19	5	KCTD9	8	25287389	Nonsense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	5924610	25287389	121076633	57	55456											
TRPA1	8989	broad.mit.edu	37	chr8	72975180	72975180	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgtacccatgctcttcacCttgagaagaaaataacattc	5	11	2	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr8:72975180C>A	uc003xza.2	-	6	837	c.662_splice	c.e6-1	p.G221_splice		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1							integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	TGCTCTTCACCTTGAGAAGAA	0.333													A	72975180	C	A	72975180	5	1	82	1	0	0	0	0	0	0	1	0	16574	695	24	5	2786	5	TRPA1	8	72975180	Splice_Site	SNP	C	TCGA-BR-8370-01A-11D-2340-08	47687791	72975180	73388842	58	55457											
KCNK9	51305	broad.mit.edu	37	chr8	140631116	140631116	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggccgccccgatgcacagCgtccccatgcaggagaagaa	13	15	0	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr8:140631116C>T	uc003yvf.1	-	2	574	c.510G>A	c.(508-510)ACG>ACA	p.T170T	KCNK9_uc003yvg.1_Silent_p.T170T|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	170	Helical; (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CGATGCACAGCGTCCCCATGC	0.567													T	140631116	C	T	140631116	2	4	82	1	0	0	0	0	0	0	0	1	8072	755	27	1		1	KCNK9	8	140631116	Silent	SNP	C	TCGA-BR-8370-01A-11D-2340-08	67655936	140631116	5732906	59	55458											
DOCK8	81704	broad.mit.edu	37	chr9	420473	420474	+	Frame_Shift_Ins	INS	-	-	A													ctgcttcctctggatcatgaINSaaaatgctgatcagagcctc							TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr9:420472_420473G>GA	uc003zgf.2	+	30	4024_4025	c.3912_3913G>GA	c.(3910-3915)atgaaafs	p.M1304fs	DOCK8_uc022bcu.1_Frame_Shift_Ins_p.M1236fs|DOCK8_uc010mgv.3_Frame_Shift_Ins_p.M1204fs|DOCK8_uc010mgu.3_Frame_Shift_Ins_p.M606fs|DOCK8_uc003zgk.2_Frame_Shift_Ins_p.M762fs	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1304	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCTGGATCATGAAAAATGCTGA	0.47													A	420474	-	A	420473	7	5	82	1	0	1	1	0	0	0	0	0	4693	247	9	0	4035	0	DOCK8	9	420473	Frame_Shift_Ins	INS	-	TCGA-BR-8370-01A-11D-2340-08		420473	140792958	60	55459											
MPDZ	8777	broad.mit.edu	37	chr9	13122132	13122132	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcttccatctttacatgctGctccttcttcataaacttca	3	13	5	0			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr9:13122132G>T	uc010mia.1	-	36	5048	c.4991C>A	c.(4990-4992)GCA>GAA	p.A1664E	MPDZ_uc003zkx.3_5'Flank|MPDZ_uc003zky.3_Intron|MPDZ_uc010mib.2_Missense_Mutation_p.A369E|MPDZ_uc010mhx.2_Missense_Mutation_p.A486E|MPDZ_uc011lmm.1_Missense_Mutation_p.A523E|MPDZ_uc003zkz.3_Missense_Mutation_p.A357E|MPDZ_uc010mhy.2_Missense_Mutation_p.A1664E|MPDZ_uc010mhz.2_Missense_Mutation_p.A1631E|MPDZ_uc011lmn.1_Missense_Mutation_p.A1631E|MPDZ_uc003zlb.3_Missense_Mutation_p.A1664E	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1664	PDZ 10.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		TTTACATGCTGCTCCTTCTTC	0.423													T	13122132	G	T	13122132	3	4	82	1	0	0	0	0	1	0	0	0	9722	1319	46	5	1174	5	MPDZ	9	13122132	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	12701659	13122132	128091299	61	55460											
BNC2	54796	broad.mit.edu	37	chr9	16436468	16436468	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcccctggagtgagtaaaCttctataaaatggaggaact	9	7	1	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr9:16436468C>A	uc003zml.2	-	6	1864	c.1724G>T	c.(1723-1725)AGT>ATT	p.S575I	BNC2_uc011lmw.1_Missense_Mutation_p.S480I|BNC2_uc003zmm.2_Missense_Mutation_p.S533I|BNC2_uc003zmq.1_Missense_Mutation_p.S589I|BNC2_uc003zmr.1_Missense_Mutation_p.S612I|BNC2_uc003zmp.1_Missense_Mutation_p.S603I|BNC2_uc010mij.1_Missense_Mutation_p.S497I|BNC2_uc011lmv.1_Missense_Mutation_p.S401I|BNC2_uc003zmo.1_Missense_Mutation_p.S497I|BNC2_uc003zmj.2_Missense_Mutation_p.S340I|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.S340I|BNC2_uc003zmn.1_Missense_Mutation_p.S340I	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	575	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		AGTGAGTAAACTTCTATAAAA	0.522													A	16436468	C	A	16436468	3	1	82	1	0	0	0	0	1	0	0	0	1475	565	20	5	1583	5	BNC2	9	16436468	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	3314336	16436468	124776963	62	55461											
LINGO2	158038	broad.mit.edu	37	chr9	27950590	27950590	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcacagcgagcggggcagCcaatggtggatcccatgaag	14	11	1	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr9:27950590C>A	uc003zqu.1	-	2	274	c.80G>T	c.(79-81)GGC>GTC	p.G27V	LINGO2_uc010mjf.1_Missense_Mutation_p.G27V|LINGO2_uc003zqv.1_Missense_Mutation_p.G27V	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	27						integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AGCGGGGCAGCCAATGGTGGA	0.527													A	27950590	C	A	27950590	3	1	82	1	0	0	0	0	1	0	0	0	8815	739	26	5	1744	5	LINGO2	9	27950590	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	11514122	27950590	113262841	63	55462											
C9orf135	138255	broad.mit.edu	37	chr9	72435945	72435945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccggtgttggtgtattcCtggtgagcgaagtcccctcg	14	10	0	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr9:72435945C>T	uc004ahl.2	+	1	215	c.150C>T	c.(148-150)TCC>TCT	p.S50S	C9orf135_uc011lrw.1_5'UTR|C9orf135_uc010moq.2_5'UTR|C9orf135_uc011lrx.1_RNA|C9orf135_uc010mop.2_Silent_p.S50S|uc004ahk.2_5'Flank	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN	hypothetical protein LOC138255	50	Extracellular (Potential).					integral to membrane				ovary(1)	1						TGGTGTATTCCTGGTGAGCGA	0.418													T	72435945	C	T	72435945	2	4	82	1	0	0	0	0	0	0	0	1	2458	668	24	4		4	C9orf135	9	72435945	Silent	SNP	C	TCGA-BR-8370-01A-11D-2340-08	44485355	72435945	68777486	64	55463											
OR1J2	26740	broad.mit.edu	37	chr9	125273810	125273810	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattgtccacatgtggctccCatctctctgtggtgtctctc	8	14	3	0			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr9:125273810C>A	uc004bmj.1	+	4	1585	c.730C>A	c.(730-732)CAT>AAT	p.H244N	OR1J2_uc011lyv.1_Missense_Mutation_p.H244N	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J,	244	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|pancreas(1)|breast(1)	5						ATGTGGCTCCCATCTCTCTGT	0.468													A	125273810	C	A	125273810	3	1	82	1	0	0	0	0	1	0	0	0	10960	594	21	5	732	5	OR1J2	9	125273810	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	52837865	125273810	15939621	65	55464											
CDH23	64072	broad.mit.edu	37	chr10	73569654	73569654	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttcgtggtggacattgtgGcccgagacctggcaggccac	14	12	0	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr10:73569654G>T	uc001jrx.3	+	59	9177	c.8800G>T	c.(8800-8802)GCC>TCC	p.A2934S	CDH23_uc001jsg.3_Missense_Mutation_p.A694S|CDH23_uc001jsh.3_Missense_Mutation_p.A694S|CDH23_uc001jsi.3_Missense_Mutation_p.A694S|CDH23_uc001jsj.3_5'Flank|CDH23_uc010qjr.1_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	2934	Cadherin 27.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GGACATTGTGGCCCGAGACCT	0.617													T	73569654	G	T	73569654	3	4	82	1	0	0	0	0	1	0	0	0	3108	1203	42	5	9383	5	CDH23	10	73569654	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08		73569654	61965093	66	55465											
C10orf12	26148	broad.mit.edu	37	chr10	98744132	98744132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaacctgcccactccagcCagtacccggattcttagaaa	7	15	1	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr10:98744132C>T	uc001kmv.2	+	1	3092	c.2985C>T	c.(2983-2985)GCC>GCT	p.A995A		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	995										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCACTCCAGCCAGTACCCGGA	0.473													T	98744132	C	T	98744132	2	4	82	1	0	0	0	0	0	0	0	1	1589	581	21	4		4	C10orf12	10	98744132	Silent	SNP	C	TCGA-BR-8370-01A-11D-2340-08	25174478	98744132	36790615	67	55466											
DUSP5	1847	broad.mit.edu	37	chr10	112257894	112257894	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggcatgaaggtcacgtcGctcgacgggcgccagctgcg	17	13	1	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr10:112257894G>A	uc001kzd.2	+	1	270	c.15G>A	c.(13-15)TCG>TCA	p.S5S		NM_004419	NP_004410	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	5					endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		AGGTCACGTCGCTCGACGGGC	0.547													A	112257894	G	A	112257894	2	1	82	1	0	0	0	0	0	0	0	1	4828	1074	38	1		1	DUSP5	10	112257894	Silent	SNP	G	TCGA-BR-8370-01A-11D-2340-08	13513762	112257894	23276853	68	55467											
PDZD8	118987	broad.mit.edu	37	chr10	119044050	119044050	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcttcaagttttaaactaaCatgccccaaacagatgagac	5	10	2	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr10:119044050C>A	uc001lde.1	-	5	2393	c.2194G>T	c.(2194-2196)GTT>TTT	p.V732F		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	732					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		TTTAAACTAACATGCCCCAAA	0.438													A	119044050	C	A	119044050	3	1	82	1	0	0	0	0	1	0	0	0	11705	478	17	5	1274	5	PDZD8	10	119044050	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	6786156	119044050	16490697	69	55468											
WEE1	7465	broad.mit.edu	37	chr11	9610042	9610042	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagctgcagctgaggaaagaGcactcttcactgaccggatg	12	10	2	3			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr11:9610042G>T	uc001mhs.2	+	11	2087	c.1834G>T	c.(1834-1836)GCA>TCA	p.A612S	WEE1_uc001mht.2_Missense_Mutation_p.A398S	NM_003390	NP_003381	P30291	WEE1_HUMAN	WEE1 tyrosine kinase isoform 1	612					blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	5				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TGAGGAAAGAGCACTCTTCAC	0.423													T	9610042	G	T	9610042	3	4	82	1	0	0	0	0	1	0	0	0	17341	971	34	5	1876	5	WEE1	11	9610042	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08		9610042	125396474	70	55469											
AMPD3	272	broad.mit.edu	37	chr11	10515007	10515007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggcagagaagcggggcCggaagatcaccctgcggcag	17	11	1	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr11:10515007C>T	uc001mio.1	+	7	1386	c.1051C>T	c.(1051-1053)CGG>TGG	p.R351W	AMPD3_uc010rbz.1_Missense_Mutation_p.R192W|AMPD3_uc001min.1_Missense_Mutation_p.R360W|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.R358W|AMPD3_uc009yfy.2_Missense_Mutation_p.R351W	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	351					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GAAGCGGGGCCGGAAGATCAC	0.597													T	10515007	C	T	10515007	3	4	82	1	0	0	0	0	1	0	0	0	587	643	23	1	1124	1	AMPD3	11	10515007	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	904965	10515007	124491509	71	55470											
NELL1	4745	broad.mit.edu	37	chr11	20907026	20907026	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagaccctccagataccaaCcttcccccaggaatcaattt	4	15	1	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr11:20907026C>A	uc001mqe.2	+	5	696	c.543C>A	c.(541-543)AAC>AAA	p.N181K	NELL1_uc001mqf.2_Missense_Mutation_p.N181K|NELL1_uc009yid.2_Missense_Mutation_p.N209K|NELL1_uc010rdo.1_Missense_Mutation_p.N124K|NELL1_uc010rdp.1_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	181	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						CAGATACCAACCTTCCCCCAG	0.408													A	20907026	C	A	20907026	3	1	82	1	0	0	0	0	1	0	0	0	10333	506	18	5	561	5	NELL1	11	20907026	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	10392019	20907026	114099490	72	55471											
ACCSL	390110	broad.mit.edu	37	chr11	44077864	44077864	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcacaagctgtgtcaactgCtccagaacacaggtactgag	10	11	1	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr11:44077864C>A	uc001mxw.1	+	11	1371	c.1315C>A	c.(1315-1317)CTC>ATC	p.L439I	ACCSL_uc009ykr.2_Missense_Mutation_p.L258I	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	439							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						GTGTCAACTGCTCCAGAACAC	0.537													A	44077864	C	A	44077864	3	1	82	1	0	0	0	0	1	0	0	0	134	797	28	5	1357	5	ACCSL	11	44077864	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	23170838	44077864	90928652	73	55472											
FOLH1	2346	broad.mit.edu	37	chr11	49208203	49208203	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atttttaccttaccttatttCctctgaaaactttcccatat	1	11	1	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr11:49208203C>A	uc001ngy.2	-	5	893	c.632G>T	c.(631-633)GGA>GTA	p.G211V	FOLH1_uc001ngz.2_Missense_Mutation_p.G211V|FOLH1_uc009yly.2_Missense_Mutation_p.G196V|FOLH1_uc009ylz.2_Missense_Mutation_p.G196V|FOLH1_uc009yma.2_5'UTR	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	211	Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TACCTTATTTCCTCTGAAAAC	0.323													A	49208203	C	A	49208203	3	1	82	1	0	0	0	0	1	0	0	0	5979	855	30	5	1680	5	FOLH1	11	49208203	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	5130339	49208203	85798313	74	55473											
OR5T2	219464	broad.mit.edu	37	chr11	56000542	56000542	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcagtgacattcttcatgttGaaatctagaacaaacttgaa	6	7	4	4			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr11:56000542G>T	uc010rjc.1	-	1	120	c.120C>A	c.(118-120)TTC>TTA	p.F40L		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	40	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TCTTCATGTTGAAATCTAGAA	0.358													T	56000542	G	T	56000542	3	4	82	1	0	0	0	0	1	0	0	0	11182	1281	45	5	958	5	OR5T2	11	56000542	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	6792339	56000542	79005974	75	55474											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57087864	57087864	+	Frame_Shift_Del	DEL	T	T	-													ggggccttccgtacacccccTggggctgcacatcgagctgg							TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr11:57087863_57087863CT>C	uc001njr.3	-	1	730	c.418_418AG>G	c.(418-420)gggfs	p.G140fs	TNKS1BP1_uc001njs.3_Frame_Shift_Del_p.G140fs|TNKS1BP1_uc009ymd.1_5'UTR	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	140	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CGTACACCCCCTGGGGCTGCA	0.652													-	57087864	T	-	57087864	7	5	82	1	0	1	0	1	0	0	0	0	16317	1567	55	0	4808	0	TNKS1BP1	11	57087864	Frame_Shift_Del	DEL	T	TCGA-BR-8370-01A-11D-2340-08	1087322	57087864	77918652	76	55475											
YPEL4	219539	broad.mit.edu	37	chr11	57413862	57413862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcgctgttcagctggccCgcaacccacgttgaccctgt	12	15	1	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr11:57413862C>T	uc001nkv.3	-	4	646	c.202G>A	c.(202-204)GGG>AGG	p.G68R	uc001nkt.1_Intron|YPEL4_uc009ymk.2_RNA	NM_145008	NP_659445	Q96NS1	YPEL4_HUMAN	yippee-like 4	68						nucleolus					0						TCAGCTGGCCCGCAACCCACG	0.567													T	57413862	C	T	57413862	3	4	82	1	0	0	0	0	1	0	0	0	17489	652	23	1	189	1	YPEL4	11	57413862	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	325998	57413862	77592654	77	55476											
OR8B4	283162	broad.mit.edu	37	chr11	124294266	124294268	+	In_Frame_Del	DEL	AGA	AGA	-													gtcaatgacgttggaatcacAgaaggtcagtcgcagcatgc							TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr11:124294265_124294267CAGA>C	uc010sak.2	-	0	501_503	c.501_503TCTG>G	c.(499-504)ttctgt>ttGt	p.167_168FC>L		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GTTGGAATCACAGAAGGTCAGTC	0.522													-	124294268	AGA	-	124294266	7	5	82	1	0	1	0	1	0	0	0	0	11229	188	7	0	429	0	OR8B4	11	124294266	In_Frame_Del	DEL	AGA	TCGA-BR-8370-01A-11D-2340-08	66880404	124294266	10712250	78	55477											
NOP2	4839	broad.mit.edu	37	chr12	6670140	6670140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggctgataatggtgttgGtgactcccagccgatgcaag	14	8	0	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr12:6670140G>A	uc001qph.1	-	12	1472	c.1292C>T	c.(1291-1293)ACC>ATC	p.T431I	NOP2_uc009zeq.1_Missense_Mutation_p.T147I|NOP2_uc001qpi.1_Missense_Mutation_p.T431I|NOP2_uc001qpj.1_Intron	NM_001033714	NP_001028886	P46087	NOP2_HUMAN	nucleolar protein 1, 120kDa	435					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			ovary(2)	2						AATGGTGTTGGTGACTCCCAG	0.547													A	6670140	G	A	6670140	3	1	82	1	0	0	0	0	1	0	0	0	10538	1261	44	4	1154	4	NOP2	12	6670140	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08		6670140	127181755	79	55478											
CHD4	1108	broad.mit.edu	37	chr12	6692406	6692406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgtagttgacctgtttacGgattctttttcctttgccca	7	9	1	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr12:6692406G>A	uc001qpo.2	-	26	4182	c.4018C>T	c.(4018-4020)CGT>TGT	p.R1340C	CHD4_uc001qpn.2_Missense_Mutation_p.R1333C|CHD4_uc001qpp.2_Missense_Mutation_p.R1337C|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1340					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ACCTGTTTACGGATTCTTTTT	0.562													A	6692406	G	A	6692406	3	1	82	1	0	0	0	0	1	0	0	0	3327	1116	39	1	1780	1	CHD4	12	6692406	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	22266	6692406	127159489	80	55479											
KRAS	3845	broad.mit.edu	37	chr12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgcactgtactcctcTtgacctgctgtgtcgagaat	8	12	2	2	rs17851045		TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr12:25380275T>G	uc001rgp.1	-	3	364	c.183A>C	c.(181-183)CAA>CAC	p.Q61H	KRAS_uc001rgq.1_Missense_Mutation_p.Q61H	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	61	GTP.		Q -> R (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(140)|p.Q61L(51)|p.Q61R(44)|p.Q61K(24)|p.Q61P(11)|p.Q61E(10)|p.Q61D(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(T3M4_PANCREAS)|Q61H(HS766T_PANCREAS)|Q61H(NCIH460_LUNG)|Q61H(NCIH1155_LUNG)|Q61H(CL11_LARGE_INTESTINE)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			G	25380275	T	G	25380275	3	3	82	1	0	0	0	0	1	0	0	0	8438	1606	56	5	519	5	KRAS	12	25380275	Missense_Mutation	SNP	T	TCGA-BR-8370-01A-11D-2340-08	18687869	25380275	108471620	81	55480											
LRP1	4035	broad.mit.edu	37	chr12	57572341	57572341	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtacagaggaccaacaccCagccctttgacctgcaggtg	11	13	0	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr12:57572341C>A	uc001snd.2	+	27	5027	c.4561C>A	c.(4561-4563)CAG>AAG	p.Q1521K		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1521	LDL-receptor class B 12.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GACCAACACCCAGCCCTTTGA	0.627													A	57572341	C	A	57572341	3	1	82	1	0	0	0	0	1	0	0	0	8951	595	21	5	4667	5	LRP1	12	57572341	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	32192066	57572341	76279554	82	55481											
MON2	23041	broad.mit.edu	37	chr12	62954269	62954269	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttttttctcttcctaatatAggagatttttcaagagcttg	6	6	2	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr12:62954269A>T	uc001sre.2	+	26	3801	c.3410_splice	c.e26-2	p.G1137_splice	MON2_uc009zqj.2_Splice_Site_p.G1137_splice|MON2_uc010ssl.1_Splice_Site_p.G1065_splice|MON2_uc010ssm.1_Splice_Site_p.G1114_splice|MON2_uc010ssn.1_Splice_Site_p.G1137_splice|MON2_uc001srf.2_Splice_Site_p.G900_splice|MON2_uc001srg.2_Silent_p.I11I	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog						Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTCCTAATATAGGAGATTTTT	0.333													T	62954269	A	T	62954269	5	4	82	1	0	0	0	0	0	0	1	0	9700	434	15	5	3510	5	MON2	12	62954269	Splice_Site	SNP	A	TCGA-BR-8370-01A-11D-2340-08	5381928	62954269	70897626	83	55482											
HVCN1	84329	broad.mit.edu	37	chr12	111099055	111099055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccaggggcaggggcaaCgtcaggggctgcagctctgc	20	11	2	0			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr12:111099055C>T	uc001trs.1	-	4	385	c.220G>A	c.(220-222)GTT>ATT	p.V74I	HVCN1_uc001trq.1_Missense_Mutation_p.V74I|HVCN1_uc001trt.1_Missense_Mutation_p.V74I|HVCN1_uc010syd.1_Missense_Mutation_p.V54I	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	74	Cytoplasmic (Potential).				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			skin(1)	1						GCAGGGGCAACGTCAGGGGCT	0.532													T	111099055	C	T	111099055	3	4	82	1	0	0	0	0	1	0	0	0	7462	536	19	1	621	1	HVCN1	12	111099055	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	48144786	111099055	22752840	84	55483											
GCN1L1	10985	broad.mit.edu	37	chr12	120600695	120600695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcctgggaatgatctgatCcaggtgcctggtgataaagg	13	8	1	3			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr12:120600695C>T	uc001txo.2	-	20	2132	c.2119G>A	c.(2119-2121)GAT>AAT	p.D707N		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	707					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGATCTGATCCAGGTGCCTG	0.577													T	120600695	C	T	120600695	3	4	82	1	0	0	0	0	1	0	0	0	6299	855	30	4	6052	4	GCN1L1	12	120600695	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	9501640	120600695	13251200	85	55484											
TMEM132D	121256	broad.mit.edu	37	chr12	129559375	129559375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacagctaacacactcttcCgcttggatttctggcaggat	8	12	2	0			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr12:129559375C>T	uc009zyl.1	-	9	2673	c.2345G>A	c.(2344-2346)CGG>CAG	p.R782Q	TMEM132D_uc001uia.2_Missense_Mutation_p.R320Q	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	782	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CACACTCTTCCGCTTGGATTT	0.488													T	129559375	C	T	129559375	3	4	82	1	0	0	0	0	1	0	0	0	16044	652	23	1	958	1	TMEM132D	12	129559375	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	8958680	129559375	4292520	86	55485											
ATP8A2	51761	broad.mit.edu	37	chr13	26106423	26106423	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaacagaagcgacacaaggCagacaatgcagttaacaaaa	9	8	0	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr13:26106423C>A	uc001uqk.2	+	5	576	c.434C>A	c.(433-435)GCA>GAA	p.A145E	ATP8A2_uc010tdi.1_Missense_Mutation_p.A105E|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.A105E	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	105	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CGACACAAGGCAGACAATGCA	0.328													A	26106423	C	A	26106423	3	1	82	1	0	0	0	0	1	0	0	0	1193	710	25	5	452	5	ATP8A2	13	26106423	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08		26106423	89063455	87	55486											
RASA3	22821	broad.mit.edu	37	chr13	114780806	114780806	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccacatactgccgtaggttCtcctgcaacgggacacggca	10	14	1	0			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr13:114780806C>T	uc001vui.2	-	14	1415	c.1284G>A	c.(1282-1284)GAG>GAA	p.E428E	RASA3_uc010tkk.1_Silent_p.E396E|RASA3_uc001vuj.2_Silent_p.E45E	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	428	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GCCGTAGGTTCTCCTGCAACG	0.667													T	114780806	C	T	114780806	2	4	82	1	0	0	0	0	0	0	0	1	13062	912	32	4		4	RASA3	13	114780806	Silent	SNP	C	TCGA-BR-8370-01A-11D-2340-08	88674383	114780806	389072	88	55487											
PRKD1	5587	broad.mit.edu	37	chr14	30068863	30068863	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctaattgatttcttaccTgagtaattaaaaacttcgtt	4	7	2	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr14:30068863T>C	uc001wqh.2	-	14	2247	c.2066A>G	c.(2065-2067)CAG>CGG	p.Q689R		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	689	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ATTTCTTACCTGAGTAATTAA	0.348													C	30068863	T	C	30068863	3	2	82	1	0	0	0	0	1	0	0	0	12518	1594	55	3	692	3	PRKD1	14	30068863	Missense_Mutation	SNP	T	TCGA-BR-8370-01A-11D-2340-08		30068863	77280677	89	55488											
AK7	122481	broad.mit.edu	37	chr14	96904253	96904253	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttacacacattttttaagGtatggctttcaatgatgacg	8	6	1	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr14:96904253G>A	uc001yfn.2	+	6	734	c.690_splice	c.e6+1	p.K230_splice		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7						cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATTTTTTAAGGTATGGCTTTC	0.398													A	96904253	G	A	96904253	5	1	82	1	0	0	0	0	0	0	1	0	444	1275	44	4	713	4	AK7	14	96904253	Splice_Site	SNP	G	TCGA-BR-8370-01A-11D-2340-08	66835390	96904253	10445287	90	55489											
TP53BP1	7158	broad.mit.edu	37	chr15	43712659	43712659	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacatctcgtgtgattttccCagagtaaaagtagccattgg	10	8	1	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr15:43712659C>A	uc001zrs.2	-	21	4658	c.4510G>T	c.(4510-4512)GGG>TGG	p.G1504W	TP53BP1_uc010udp.1_Missense_Mutation_p.G1504W|TP53BP1_uc001zrq.3_Missense_Mutation_p.G1509W|TP53BP1_uc001zrr.3_Missense_Mutation_p.G1509W|TP53BP1_uc010udq.1_Missense_Mutation_p.G1509W	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1504	Interaction with dimethylated histone H4.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GTGATTTTCCCAGAGTAAAAG	0.473								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					A	43712659	C	A	43712659	3	1	82	1	0	0	0	0	1	0	0	0	16380	594	21	5	1440	5	TP53BP1	15	43712659	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08		43712659	58818733	91	55490											
SH3GL3	6457	broad.mit.edu	37	chr15	84255786	84255786	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagaggcagcattagactatCacagacagtccacagagatt	9	9	1	4			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr15:84255786C>T	uc002bjw.2	+	7	871	c.676C>T	c.(676-678)CAC>TAC	p.H226Y	SH3GL3_uc010uot.1_Missense_Mutation_p.H226Y|SH3GL3_uc002bjx.2_Missense_Mutation_p.H157Y|SH3GL3_uc002bju.2_Missense_Mutation_p.H234Y|SH3GL3_uc002bjv.2_RNA	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	226	BAR.|Interaction with ARC (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			pancreas(1)|central_nervous_system(1)|skin(1)	3						ATTAGACTATCACAGACAGTC	0.502													T	84255786	C	T	84255786	3	4	82	1	0	0	0	0	1	0	0	0	14252	826	29	4	702	4	SH3GL3	15	84255786	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	40543127	84255786	18275606	92	55491											
AQP8	343	broad.mit.edu	37	chr16	25228603	25228603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgagtgtcctggtacgaaCggtttgtgcagccatgtctg	15	9	1	0			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr16:25228603C>T	uc002doc.2	+	2	179	c.97C>T	c.(97-99)CGG>TGG	p.R33W		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8	33	Cytoplasmic (Potential).				cellular response to cAMP	integral to plasma membrane	water channel activity			upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(48;0.044)		CTGGTACGAACGGTTTGTGCA	0.572													T	25228603	C	T	25228603	3	4	82	1	0	0	0	0	1	0	0	0	832	527	19	1	103	1	AQP8	16	25228603	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08		25228603	65126150	93	55492											
RLTPR	146206	broad.mit.edu	37	chr16	67683840	67683840	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcccaggcgcagcgcagccGcccggaactgacagcacgtg	15	16	0	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr16:67683840G>T	uc002etn.2	+	21	2171	c.2051G>T	c.(2050-2052)CGC>CTC	p.R684L	RLTPR_uc010cel.1_Missense_Mutation_p.R677L|RLTPR_uc010vjr.1_Missense_Mutation_p.R648L	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	684	LRR 16.									breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CAGCGCAGCCGCCCGGAACTG	0.647													T	67683840	G	T	67683840	3	4	82	1	0	0	0	0	1	0	0	0	13394	1087	38	5	2133	5	RLTPR	16	67683840	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	42455237	67683840	22670913	94	55493											
CDH1	999	broad.mit.edu	37	chr16	68844181	68844181	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcacggtaaccgatcagaatGacaacaagcccgaattcacc	7	13	3	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr16:68844181G>A	uc002ewg.1	+	6	893	c.769G>A	c.(769-771)GAC>AAC	p.D257N	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.D257N	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	257	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)|p.D257G(1)|p.D254fs*9(1)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CGATCAGAATGACAACAAGCC	0.463			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				A	68844181	G	A	68844181	3	1	82	1	0	0	0	0	1	0	0	0	3095	1290	45	4	791	4	CDH1	16	68844181	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	1160341	68844181	21510572	95	55494											
IL17C	27189	broad.mit.edu	37	chr16	88705717	88705717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctcaccctggagataccGgtgaggacctggggattccg	13	12	1	2			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr16:88705717G>A	uc002fla.2	+	2	384	c.335G>A	c.(334-336)CGT>CAT	p.R112H		NM_013278	NP_037410	Q9P0M4	IL17C_HUMAN	interleukin 17C precursor	112					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity				0				BRCA - Breast invasive adenocarcinoma(80;0.0477)		TGGAGATACCGGTGAGGACCT	0.687													A	88705717	G	A	88705717	3	1	82	1	0	0	0	0	1	0	0	0	7636	1130	39	1	341	1	IL17C	16	88705717	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	19861536	88705717	1649036	96	55495											
CCDC42	146849	broad.mit.edu	37	chr17	8646997	8646997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagttgggcttccttaaCgcccagttcctcccagcgca	8	16	1	0	rs145016058		TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr17:8646997C>T	uc002gln.2	-	3	468	c.241G>A	c.(241-243)GTT>ATT	p.V81I	CCDC42_uc002glo.2_Missense_Mutation_p.V81I	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42 isoform 1	81	Potential.									ovary(1)	1						GCTTCCTTAACGCCCAGTTCC	0.587													T	8646997	C	T	8646997	3	4	82	1	0	0	0	0	1	0	0	0	2814	536	19	1	729	1	CCDC42	17	8646997	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08		8646997	72548213	97	55496											
SARM1	23098	broad.mit.edu	37	chr17	26686415	26686415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataaacggatcacccgcaaCgtcacttgtcaggtaaggac	9	11	3	0			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr17:26686415C>T	uc010wah.1	+	3	370	c.363C>T	c.(361-363)AAC>AAT	p.N121N	POLDIP2_uc002haz.2_5'Flank|POLDIP2_uc010wag.1_5'Flank|TMEM199_uc002hba.2_Silent_p.N121N	NM_152464	NP_689677	Q6SZW1	SARM1_HUMAN	transmembrane protein 199	Error:Variant_position_missing_in_Q6SZW1_after_alignment					innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity				0	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TCACCCGCAACGTCACTTGTC	0.468													T	26686415	C	T	26686415	2	4	82	1	0	0	0	0	0	0	0	1	13842	535	19	1		1	SARM1	17	26686415	Silent	SNP	C	TCGA-BR-8370-01A-11D-2340-08	18039418	26686415	54508795	98	55497											
NF1	4763	broad.mit.edu	37	chr17	29662040	29662040	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcaaaaatatggggaagCcttgggcaggtattgagttt	13	5	0	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr17:29662040C>T	uc002hgg.2	+	40	6330	c.5997C>T	c.(5995-5997)AGC>AGT	p.S1999S	NF1_uc002hgh.2_Silent_p.S1978S|NF1_uc010cso.2_Silent_p.S187S|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1999					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TATGGGGAAGCCTTGGGCAGG	0.284			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29662040	C	T	29662040	2	4	82	1	0	0	0	0	0	0	0	1	10356	738	26	2		2	NF1	17	29662040	Silent	SNP	C	TCGA-BR-8370-01A-11D-2340-08	2975625	29662040	51533170	99	55498											
MAPT	4137	broad.mit.edu	37	chr17	44073913	44073913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgtactccacccaagtcGccgtcttccgccaagagccg	9	18	1	1	rs115142761	by1000genomes	TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr17:44073913G>A	uc002ijr.3	+	10	1976	c.1656G>A	c.(1654-1656)TCG>TCA	p.S552S	MAPT_uc010dau.2_Silent_p.S570S|MAPT_uc002ijs.3_Silent_p.S235S|MAPT_uc002ijx.3_Silent_p.S206S|MAPT_uc002ijt.3_Silent_p.S177S|MAPT_uc002iju.3_Silent_p.S177S|MAPT_uc002ijv.3_Silent_p.S184S|STH_uc002ijy.2_5'Flank	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	552				S->A: 70% decrease in microtubule-binding after in vitro phosphorylation of mutant protein.|S->E: No association with plasma membrane.	cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)				CACCCAAGTCGCCGTCTTCCG	0.662													A	44073913	G	A	44073913	2	1	82	1	0	0	0	0	0	0	0	1	9297	1074	38	1		1	MAPT	17	44073913	Silent	SNP	G	TCGA-BR-8370-01A-11D-2340-08	14411873	44073913	37121297	100	55499											
GRIN2C	2905	broad.mit.edu	37	chr17	72846372	72846372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatgccgttccatacgccGcgcacccgcttgccatgctt	8	17	1	0			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr17:72846372G>A	uc002jlt.1	-	6	1620	c.1464C>T	c.(1462-1464)CGC>CGT	p.R488R	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.R488R	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	488	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	TCCATACGCCGCGCACCCGCT	0.622													A	72846372	G	A	72846372	2	1	82	1	0	0	0	0	0	0	0	1	6781	1074	38	1		1	GRIN2C	17	72846372	Silent	SNP	G	TCGA-BR-8370-01A-11D-2340-08	28772459	72846372	8348838	101	55500											
LAMA1	284217	broad.mit.edu	37	chr18	7049076	7049076	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactgccgtcccatactcaCgcgtctggtaacaataggat	10	12	2	0			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr18:7049076C>T	uc002knm.2	-	5	862	c.768_splice	c.e5+1	p.R256_splice	LAMA1_uc010wzj.1_Splice_Site	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor						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)	CCCATACTCACGCGTCTGGTA	0.413													T	7049076	C	T	7049076	5	4	82	1	0	0	0	0	0	0	1	0	8605	550	19	1	8694	1	LAMA1	18	7049076	Splice_Site	SNP	C	TCGA-BR-8370-01A-11D-2340-08		7049076	71028172	102	55501											
SMAD4	4089	broad.mit.edu	37	chr18	48593406	48593407	+	Frame_Shift_Ins	INS	-	-	GT													aggttgcacataggcaaaggINStgtgcagttggaatgtaaag					rs121912580		TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr18:48593405_48593406G>GGT	uc010xdp.2	+	9	1694_1695	c.1156_1157G>GGT	c.(1156-1158)ggtfs	p.G386fs	SMAD4_uc002lfb.4_Frame_Shift_Ins_p.G231fs	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	386	MH2.		G -> D (in JP/HHT; dbSNP:rs28936393).		BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.G386R(10)|p.G386C(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CATAGGCAAAGGTGTGCAGTTG	0.366													GT	48593407	-	GT	48593406	7	5	82	1	0	1	1	0	0	0	0	0	14760	1261	44	0	1191	0	SMAD4	18	48593406	Frame_Shift_Ins	INS	-	TCGA-BR-8370-01A-11D-2340-08	41544330	48593406	29483842	103	55502											
C18orf26	284254	broad.mit.edu	37	chr18	52265293	52265293	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caactgtacctgcaagtacaGccactgaatctacaacttca	5	13	2	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr18:52265293G>T	uc002lfq.1	+	3	596	c.550G>T	c.(550-552)GCC>TCC	p.A184S	C18orf26_uc002lfp.1_Missense_Mutation_p.A132S	NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	hypothetical protein LOC284254	184	Thr-rich.					integral to membrane					0				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		TGCAAGTACAGCCACTGAATC	0.463													T	52265293	G	T	52265293	3	4	82	1	0	0	0	0	1	0	0	0	1900	971	34	5	560	5	C18orf26	18	52265293	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	3671887	52265293	25811955	104	55503											
ZNF555	148254	broad.mit.edu	37	chr19	2852504	2852504	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacagtatgaatacaacacGtacggaaaagtcttcatgca	7	8	2	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr19:2852504G>A	uc002lwo.2	+	4	530	c.441G>A	c.(439-441)ACG>ACA	p.T147T	ZNF555_uc002lwn.3_Silent_p.T146T	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AATACAACACGTACGGAAAAG	0.458													A	2852504	G	A	2852504	2	1	82	1	0	0	0	0	0	0	0	1	17983	1132	40	1		1	ZNF555	19	2852504	Silent	SNP	G	TCGA-BR-8370-01A-11D-2340-08		2852504	56276479	105	55504											
C3	718	broad.mit.edu	37	chr19	6707512	6707512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccgtgagctgcacggaaCggcgtcggcgggcggctggc	18	13	1	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr19:6707512C>T	uc002mfm.2	-	16	2074	c.2012G>A	c.(2011-2013)CGT>CAT	p.R671H		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	671					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTGCACGGAACGGCGTCGGCG	0.647													T	6707512	C	T	6707512	3	4	82	1	0	0	0	0	1	0	0	0	2204	536	19	1	3083	1	C3	19	6707512	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	3855008	6707512	52421471	106	55505											
OR7D2	162998	broad.mit.edu	37	chr19	9296503	9296503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttagagtttatccttctcGgactctctgaggatccagaa	8	9	2	3			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr19:9296503G>A	uc002mkz.1	+	1	234	c.46G>A	c.(46-48)GGA>AGA	p.G16R		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D,	16	Extracellular (Potential).				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|upper_aerodigestive_tract(1)	3						TATCCTTCTCGGACTCTCTGA	0.413													A	9296503	G	A	9296503	3	1	82	1	0	0	0	0	1	0	0	0	11219	1117	39	1	48	1	OR7D2	19	9296503	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	2588991	9296503	49832480	107	55506											
ZNF560	147741	broad.mit.edu	37	chr19	9578204	9578204	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctatcttcaataacaccTgaggatgtaccaaaggcctt	6	11	3	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr19:9578204T>C	uc002mlp.1	-	10	1629	c.1419A>G	c.(1417-1419)TCA>TCG	p.S473S	ZNF560_uc010dwr.1_Silent_p.S367S	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	473					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						CAATAACACCTGAGGATGTAC	0.388													C	9578204	T	C	9578204	2	2	82	1	0	0	0	0	0	0	0	1	17988	1567	55	3		3	ZNF560	19	9578204	Silent	SNP	T	TCGA-BR-8370-01A-11D-2340-08	281701	9578204	49550779	108	55507											
C19orf56	51398	broad.mit.edu	37	chr19	12779424	12779424	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacagcgacccaagcacacCacttcagctagggaaaggta	10	12	1	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr19:12779424C>T	uc002mud.2	-	3	412	c.164G>A	c.(163-165)TGG>TAG	p.W55*	MAN2B1_uc002mub.2_5'Flank|MAN2B1_uc010dyv.1_5'Flank|WDR83_uc002mue.3_5'UTR|WDR83_uc002muc.2_RNA|WDR83_uc010dyw.2_5'Flank	NM_016145	NP_057229	Q9Y284	CS056_HUMAN	hypothetical protein LOC51398	55	Helical; (Potential).					integral to membrane					0						CCAAGCACACCACTTCAGCTA	0.522													T	12779424	C	T	12779424	4	4	82	1	0	0	0	0	0	1	0	0	1938	595	21	4	164	4	C19orf56	19	12779424	Nonsense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	3201220	12779424	46349559	109	55508											
EPHX3	79852	broad.mit.edu	37	chr19	15342889	15342889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggccggcacagcacgtgcGtgagcgctatgcagccgtag	17	12	0	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr19:15342889G>A	uc002nap.2	-	1	343	c.134C>T	c.(133-135)ACG>ATG	p.T45M	EPHX3_uc002naq.2_Missense_Mutation_p.T45M	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	abhydrolase domain containing 9 precursor	45						extracellular region	hydrolase activity				0						CAGCACGTGCGTGAGCGCTAT	0.736													A	15342889	G	A	15342889	3	1	82	1	0	0	0	0	1	0	0	0	5181	1145	40	1	976	1	EPHX3	19	15342889	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	2563465	15342889	43786094	110	55509											
ZNF85	7639	broad.mit.edu	37	chr19	21131567	21131567	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagttatgtgttctcattttGcccaagacctttggccggag	10	10	1	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr19:21131567G>C	uc002npg.3	+	4	374	c.247G>C	c.(247-249)GCC>CCC	p.A83P	ZNF85_uc010ecn.2_Missense_Mutation_p.A18P|ZNF85_uc010eco.2_Missense_Mutation_p.A31P|ZNF85_uc002npi.2_Missense_Mutation_p.A24P	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	83						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1						TTCTCATTTTGCCCAAGACCT	0.299													C	21131567	G	C	21131567	3	2	82	1	0	0	0	0	1	0	0	0	18190	1319	46	5	261	5	ZNF85	19	21131567	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	5788678	21131567	37997416	111	55510											
PPP1R13L	10848	broad.mit.edu	37	chr19	45888866	45888866	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaccctcgcggtaagggtcGcacttctcgaaggcggtggc	14	12	1	0			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr19:45888866G>A	uc002pbn.2	-	11	2279	c.2202C>T	c.(2200-2202)TGC>TGT	p.C734C	PPP1R13L_uc002pbm.2_Silent_p.C313C|PPP1R13L_uc002pbo.2_Silent_p.C734C	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	734					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGTAAGGGTCGCACTTCTCGA	0.682													A	45888866	G	A	45888866	2	1	82	1	0	0	0	0	0	0	0	1	12358	1079	38	1		1	PPP1R13L	19	45888866	Silent	SNP	G	TCGA-BR-8370-01A-11D-2340-08	24757299	45888866	13240117	112	55511											
BAX	581	broad.mit.edu	37	chr19	49464847	49464847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccgtgaccatctttgtggCgggagtgctcaccgcctcac	12	14	3	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr19:49464847C>T	uc002plk.2	+	6	602	c.533C>T	c.(532-534)GCG>GTG	p.A178V	BAX_uc010xzx.1_RNA|BAX_uc002plj.2_Missense_Mutation_p.A165V|BAX_uc002pll.2_Missense_Mutation_p.A129V|BAX_uc002plm.2_Missense_Mutation_p.A100V	NM_138761	NP_620116	Q07812	BAX_HUMAN	BCL2-associated X protein isoform alpha	178	Helical; (Potential).				activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity			lung(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		ATCTTTGTGGCGGGAGTGCTC	0.572													T	49464847	C	T	49464847	3	4	82	1	0	0	0	0	1	0	0	0	1328	768	27	1	738	1	BAX	19	49464847	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08	3575981	49464847	9664136	113	55512											
KLK13	26085	broad.mit.edu	37	chr19	51563819	51563819	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcaggtgtagccacctGggagaaacccactggtccca	13	12	0	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr19:51563819G>T	uc002pvn.2	-	2	153	c.110C>A	c.(109-111)CCA>CAA	p.P37Q	KLK13_uc002pvl.2_RNA|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_RNA|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Missense_Mutation_p.P37Q|KLK13_uc002pvq.2_RNA|KLK13_uc010eoo.2_Intron|KLK13_uc002pvr.2_Missense_Mutation_p.P37Q	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	kallikrein 13 precursor	37	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GTAGCCACCTGGGAGAAACCC	0.577													T	51563819	G	T	51563819	3	4	82	1	0	0	0	0	1	0	0	0	8401	1348	47	5	739	5	KLK13	19	51563819	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	2098972	51563819	7565164	114	55513											
TMC2	117532	broad.mit.edu	37	chr20	2575516	2575516	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctatggctactacaacaacCagaggaccatcgggtggctg	11	11	1	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr20:2575516C>A	uc002wgf.1	+	9	994	c.979C>A	c.(979-981)CAG>AAG	p.Q327K	TMC2_uc002wgg.1_Missense_Mutation_p.Q311K|TMC2_uc010zpw.1_Missense_Mutation_p.Q159K|TMC2_uc010zpx.1_Missense_Mutation_p.Q158K	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	327	Extracellular (Potential).					integral to membrane				ovary(3)	3						CTACAACAACCAGAGGACCAT	0.517													A	2575516	C	A	2575516	3	1	82	1	0	0	0	0	1	0	0	0	15982	595	21	5	1013	5	TMC2	20	2575516	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08		2575516	60450004	115	55514											
JPH2	57158	broad.mit.edu	37	chr20	42744650	42744650	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgccacctccggctcccgCgacggcgcaggcggtgcctg	15	18	0	0			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr20:42744650C>A	uc002xli.1	-	4	2538	c.1665G>T	c.(1663-1665)TCG>TCT	p.S555S		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	555	Pro-rich.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCGGCTCCCGCGACGGCGCAG	0.741													A	42744650	C	A	42744650	2	1	82	1	0	0	0	0	0	0	0	1	7961	755	27	5		5	JPH2	20	42744650	Silent	SNP	C	TCGA-BR-8370-01A-11D-2340-08	40169134	42744650	20280870	116	55515											
CDH4	1002	broad.mit.edu	37	chr20	60485655	60485655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacgagggcatggtcaccGtggtgaaggtgcgtactctt	14	10	2	1			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr20:60485655G>A	uc002ybn.1	+	9	1380	c.1366G>A	c.(1366-1368)GTG>ATG	p.V456M	CDH4_uc002ybp.1_Missense_Mutation_p.V382M	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	456	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CATGGTCACCGTGGTGAAGGT	0.577													A	60485655	G	A	60485655	3	1	82	1	0	0	0	0	1	0	0	0	3112	1145	40	1	1400	1	CDH4	20	60485655	Missense_Mutation	SNP	G	TCGA-BR-8370-01A-11D-2340-08	17741005	60485655	2539865	117	55516											
CCT8	10694	broad.mit.edu	37	chr21	30434528	30434528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagattgtctgtagagcctCgaagtactatggtagaaatg	11	6	2	3			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr21:30434528C>T	uc002ynb.2	-	11	1232	c.1133G>A	c.(1132-1134)CGA>CAA	p.R378Q	CCT8_uc002ymz.2_5'UTR|CCT8_uc011acp.1_Missense_Mutation_p.R359Q|CCT8_uc002yna.2_Missense_Mutation_p.R327Q|CCT8_uc002ync.2_Missense_Mutation_p.R377Q|CCT8_uc010glm.2_Missense_Mutation_p.R319Q|CCT8_uc011acq.1_Missense_Mutation_p.R305Q	NM_006585	NP_006576	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	378					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding				0						TGTAGAGCCTCGAAGTACTAT	0.353													T	30434528	C	T	30434528	3	4	82	1	0	0	0	0	1	0	0	0	2960	884	31	1	533	1	CCT8	21	30434528	Missense_Mutation	SNP	C	TCGA-BR-8370-01A-11D-2340-08		30434528	17695367	118	55517											
FTCD	10841	broad.mit.edu	37	chr21	47574136	47574136	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccctccaccacgcactcCggcggccccacgaaggtgta	10	20	0	0	rs143451664		TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr21:47574136C>T	uc002zif.2	-	2	209	c.165G>A	c.(163-165)CCG>CCA	p.P55P	FTCD_uc002zig.2_Silent_p.P55P|FTCD_uc002zih.2_Silent_p.P55P|FTCD_uc010gqf.2_Silent_p.P55P|FTCD_uc010gqg.1_5'UTR	NM_006657	NP_006648	O95954	FTCD_HUMAN	formiminotransferase cyclodeaminase	55	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			pancreas(1)|skin(1)	2	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CCACGCACTCCGGCGGCCCCA	0.657													T	47574136	C	T	47574136	2	4	82	1	0	0	0	0	0	0	0	1	6081	639	23	1		1	FTCD	21	47574136	Silent	SNP	C	TCGA-BR-8370-01A-11D-2340-08	17139608	47574136	555759	119	55518											
POLR2F	5435	broad.mit.edu	37	chr22	38352792	38352792	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtacagttttgatggcgaCgactttgatgatgtggagga	14	5	0	3			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr22:38352792C>T	uc003aul.2	+	2	154	c.33C>T	c.(31-33)GAC>GAT	p.D11D	POLR2F_uc010gxi.2_Translation_Start_Site|POLR2F_uc003aum.2_RNA	NM_021974	NP_068809	P61218	RPAB2_HUMAN	DNA directed RNA polymerase II polypeptide F	11					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)	1	Melanoma(58;0.045)					TTGATGGCGACGACTTTGATG	0.403													T	38352792	C	T	38352792	2	4	82	1	0	0	0	0	0	0	0	1	12219	535	19	1		1	POLR2F	22	38352792	Silent	SNP	C	TCGA-BR-8370-01A-11D-2340-08		38352792	12951774	120	55519											
KIAA1210	57481	broad.mit.edu	37	chrX	118220735	118220735	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcactcttatacttctgCgagggaggggctcttttcag	10	10	5	0			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chrX:118220735C>T	uc004era.3	-	11	4458	c.4458G>A	c.(4456-4458)TCG>TCA	p.S1486S		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	1486										ovary(4)|skin(1)	5						TATACTTCTGCGAGGGAGGGG	0.448													T	118220735	C	T	118220735	2	4	82	1	0	0	0	0	0	0	0	1	8214	755	27	1		1	KIAA1210	23	118220735	Silent	SNP	C	TCGA-BR-8370-01A-11D-2340-08		118220735	37049825	121	55520											
PTPN14	5784	broad.mit.edu	37	chr1	214557344	214557344	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctcctggagagactgAtgaaccaccggagagctgtc	11	13	1	4			TCGA-BR-8371-01A-11D-2340-08	TCGA-BR-8371-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8509693c-ad35-4c24-80de-f84ae07fe87e	be24ceb1-6f72-48d3-8dc9-7649fd72609f	g.chr1:214557344A>G	uc001hkk.1	-	13	2125	c.1854T>C	c.(1852-1854)CAT>CAC	p.H618H	PTPN14_uc010pty.1_Silent_p.H519H	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	618					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGAGAGACTGATGAACCACCG	0.632													G	214557344	A	G	214557344	2	3	83	1	0	0	0	0	0	0	0	1	12783	330	12	3		3	PTPN14	1	214557344	Silent	SNP	A	TCGA-BR-8371-01A-11D-2340-08		214557344	34693277	1	55521											
CNTN6	27255	broad.mit.edu	37	chr3	1427322	1427322	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actggacagatgactccaaaGaatccatgataggtaaaatt	8	7	0	4			TCGA-BR-8371-01A-11D-2340-08	TCGA-BR-8371-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8509693c-ad35-4c24-80de-f84ae07fe87e	be24ceb1-6f72-48d3-8dc9-7649fd72609f	g.chr3:1427322G>A	uc003boz.2	+	20	2812	c.2545G>A	c.(2545-2547)GAA>AAA	p.E849K	CNTN6_uc011asj.1_Missense_Mutation_p.E777K|CNTN6_uc003bpa.2_Missense_Mutation_p.E849K	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	849	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGACTCCAAAGAATCCATGAT	0.348													A	1427322	G	A	1427322	3	1	83	1	0	0	0	0	1	0	0	0	3645	943	33	4	2619	4	CNTN6	3	1427322	Missense_Mutation	SNP	G	TCGA-BR-8371-01A-11D-2340-08		1427322	196595108	2	55522											
BAP1	8314	broad.mit.edu	37	chr3	52440318	52440318	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttcaccttcagcacatgcAgcctggcctcatacttgatc	8	14	3	1			TCGA-BR-8371-01A-11D-2340-08	TCGA-BR-8371-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8509693c-ad35-4c24-80de-f84ae07fe87e	be24ceb1-6f72-48d3-8dc9-7649fd72609f	g.chr3:52440318A>G	uc003ddx.2	-	9	849	c.734T>C	c.(733-735)CTG>CCG	p.L245P	BAP1_uc003ddw.2_5'Flank|BAP1_uc010hmg.2_5'Flank|BAP1_uc010hmh.2_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	245					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CAGCACATGCAGCCTGGCCTC	0.607			N|Mis|F|S|O		uveal melanoma|breast|NSCLC								G	52440318	A	G	52440318	3	3	83	1	0	0	0	0	1	0	0	0	1311	188	7	3	1491	3	BAP1	3	52440318	Missense_Mutation	SNP	A	TCGA-BR-8371-01A-11D-2340-08	51012996	52440318	145582112	3	55523											
PAK2	5062	broad.mit.edu	37	chr3	196534697	196534697	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgttcctgcaccagttggTgattcacatgttgatggtgc	11	10	1	2			TCGA-BR-8371-01A-11D-2340-08	TCGA-BR-8371-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8509693c-ad35-4c24-80de-f84ae07fe87e	be24ceb1-6f72-48d3-8dc9-7649fd72609f	g.chr3:196534697T>C	uc003fwy.3	+	7	943	c.621T>C	c.(619-621)GGT>GGC	p.G207G		NM_002577	NP_002568	Q13177	PAK2_HUMAN	p21-activated kinase 2	207					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			ovary(1)|lung(1)	2	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CACCAGTTGGTGATTCACATG	0.373													C	196534697	T	C	196534697	2	2	83	1	0	0	0	0	0	0	0	1	11401	1683	59	3		3	PAK2	3	196534697	Silent	SNP	T	TCGA-BR-8371-01A-11D-2340-08	144094379	196534697	1487733	4	55524											
F11	2160	broad.mit.edu	37	chr4	187197452	187197452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgacagtgtcatggctccCgatgcttttgtctgtggccg	12	11	2	0	rs142846329	byFrequency	TCGA-BR-8371-01A-11D-2340-08	TCGA-BR-8371-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8509693c-ad35-4c24-80de-f84ae07fe87e	be24ceb1-6f72-48d3-8dc9-7649fd72609f	g.chr4:187197452C>T	uc003iza.1	+	7	996	c.663C>T	c.(661-663)CCC>CCT	p.P221P		NM_000128	NP_000119	P03951	FA11_HUMAN	coagulation factor XI precursor	221	Apple 3.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity				0		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TCATGGCTCCCGATGCTTTTG	0.478													T	187197452	C	T	187197452	2	4	83	1	0	0	0	0	0	0	0	1	5337	639	23	1		1	F11	4	187197452	Silent	SNP	C	TCGA-BR-8371-01A-11D-2340-08		187197452	3956824	5	55525											
SNX18	112574	broad.mit.edu	37	chr5	53815333	53815333	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggcaggacctggatccCgtcatggacctattagcgct	11	14	1	0	rs151150635		TCGA-BR-8371-01A-11D-2340-08	TCGA-BR-8371-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8509693c-ad35-4c24-80de-f84ae07fe87e	be24ceb1-6f72-48d3-8dc9-7649fd72609f	g.chr5:53815333C>T	uc003jpj.3	+	1	1741	c.1551C>T	c.(1549-1551)CCC>CCT	p.P517P	SNX18_uc011cqg.1_Silent_p.P517P|SNX18_uc003jpi.3_Silent_p.P517P	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	sorting nexin 18 isoform b	517	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding				0		Lung NSC(810;3.46e-05)|Breast(144;0.102)				ACCTGGATCCCGTCATGGACC	0.577													T	53815333	C	T	53815333	2	4	83	1	0	0	0	0	0	0	0	1	14889	639	23	1		1	SNX18	5	53815333	Silent	SNP	C	TCGA-BR-8371-01A-11D-2340-08		53815333	127099927	6	55526											
CAP2	10486	broad.mit.edu	37	chr6	17421835	17421835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactggaacgagctgtcagcCgcctggagtcgctgtctgca	14	12	2	0			TCGA-BR-8371-01A-11D-2340-08	TCGA-BR-8371-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8509693c-ad35-4c24-80de-f84ae07fe87e	be24ceb1-6f72-48d3-8dc9-7649fd72609f	g.chr6:17421835C>T	uc003ncb.2	+	2	292	c.49C>T	c.(49-51)CGC>TGC	p.R17C	CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Missense_Mutation_p.R17C|CAP2_uc011djb.1_Missense_Mutation_p.R17C|CAP2_uc011djc.1_Missense_Mutation_p.R17C|CAP2_uc011djd.1_Missense_Mutation_p.R17C	NM_006366	NP_006357	P40123	CAP2_HUMAN	adenylyl cyclase-associated protein 2	17					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			ovary(1)	1	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			AGCTGTCAGCCGCCTGGAGTC	0.562													T	17421835	C	T	17421835	3	4	83	1	0	0	0	0	1	0	0	0	2620	652	23	1	51	1	CAP2	6	17421835	Missense_Mutation	SNP	C	TCGA-BR-8371-01A-11D-2340-08		17421835	153693232	7	55527											
KHDRBS2	202559	broad.mit.edu	37	chr6	62407141	62407141	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttactccatgaccgtagTcatagtattcaggcacactg	7	12	2	1			TCGA-BR-8371-01A-11D-2340-08	TCGA-BR-8371-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8509693c-ad35-4c24-80de-f84ae07fe87e	be24ceb1-6f72-48d3-8dc9-7649fd72609f	g.chr6:62407141T>C	uc003peg.2	-	8	1158	c.911A>G	c.(910-912)GAC>GGC	p.D304G		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		ATGACCGTAGTCATAGTATTC	0.383													C	62407141	T	C	62407141	3	2	83	1	0	0	0	0	1	0	0	0	8147	1667	58	3	146	3	KHDRBS2	6	62407141	Missense_Mutation	SNP	T	TCGA-BR-8371-01A-11D-2340-08	44985306	62407141	108707926	8	55528											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744581	70744581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggagcatggccaaggCggaggacaccgagaaggttt	15	10	0	1	rs34148850	byFrequency	TCGA-BR-8371-01A-11D-2340-08	TCGA-BR-8371-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8509693c-ad35-4c24-80de-f84ae07fe87e	be24ceb1-6f72-48d3-8dc9-7649fd72609f	g.chr8:70744581C>T	uc003xyl.2	-	2	1035	c.328G>A	c.(328-330)GCC>ACC	p.A110T	SLCO5A1_uc010lzb.2_Missense_Mutation_p.A110T|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.A110T|SLCO5A1_uc010lzc.2_Missense_Mutation_p.A110T	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	110	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATGGCCAAGGCGGAGGACACC	0.617											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	70744581	C	T	70744581	3	4	83	1	0	0	0	0	1	0	0	0	14731	768	27	1	2254	1	SLCO5A1	8	70744581	Missense_Mutation	SNP	C	TCGA-BR-8371-01A-11D-2340-08		70744581	75619441	9	55529											
ADCY8	114	broad.mit.edu	37	chr8	131916177	131916177	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggctgcttaattaagtaAgtttcgatattatgcttcct	7	7	1	0			TCGA-BR-8371-01A-11D-2340-08	TCGA-BR-8371-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8509693c-ad35-4c24-80de-f84ae07fe87e	be24ceb1-6f72-48d3-8dc9-7649fd72609f	g.chr8:131916177A>C	uc003ytd.3	-	7	2008	c.1752T>G	c.(1750-1752)ACT>ACG	p.T584T	ADCY8_uc010mds.2_Silent_p.T584T	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	584	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TAATTAAGTAAGTTTCGATAT	0.483										HNSCC(32;0.087)			C	131916177	A	C	131916177	2	2	83	1	0	0	0	0	0	0	0	1	300	59	3	5		5	ADCY8	8	131916177	Silent	SNP	A	TCGA-BR-8371-01A-11D-2340-08	61171596	131916177	14447845	10	55530											
TNC	3371	broad.mit.edu	37	chr9	117840372	117840372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtacggtctcctggcaCgtctttgatgccgtaggtca	14	10	3	1			TCGA-BR-8371-01A-11D-2340-08	TCGA-BR-8371-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8509693c-ad35-4c24-80de-f84ae07fe87e	be24ceb1-6f72-48d3-8dc9-7649fd72609f	g.chr9:117840372C>T	uc004bjj.3	-	7	2886	c.2524G>A	c.(2524-2526)GTG>ATG	p.V842M	TNC_uc010mvf.2_Missense_Mutation_p.V842M	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	842	Fibronectin type-III 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						TCTCCTGGCACGTCTTTGATG	0.547													T	117840372	C	T	117840372	3	4	83	1	0	0	0	0	1	0	0	0	16267	536	19	1	4169	1	TNC	9	117840372	Missense_Mutation	SNP	C	TCGA-BR-8371-01A-11D-2340-08		117840372	23373059	11	55531											
NECAP1	25977	broad.mit.edu	37	chr12	8245589	8245589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaccatcctcctcagttgCcatcagcaatcatgtcaccc	4	19	4	0			TCGA-BR-8371-01A-11D-2340-08	TCGA-BR-8371-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8509693c-ad35-4c24-80de-f84ae07fe87e	be24ceb1-6f72-48d3-8dc9-7649fd72609f	g.chr12:8245589C>T	uc001qtx.2	+	6	692	c.614C>T	c.(613-615)GCC>GTC	p.A205V	NECAP1_uc001qty.2_Missense_Mutation_p.A63V	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	205					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				ovary(1)	1				Kidney(36;0.0915)		TCCTCAGTTGCCATCAGCAAT	0.517													T	8245589	C	T	8245589	3	4	83	1	0	0	0	0	1	0	0	0	10307	739	26	2	636	2	NECAP1	12	8245589	Missense_Mutation	SNP	C	TCGA-BR-8371-01A-11D-2340-08		8245589	125606306	12	55532											
BEST3	144453	broad.mit.edu	37	chr12	70049306	70049306	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagctctcccatgctgaagTgcagcgtggggcttccttct	11	13	2	1			TCGA-BR-8371-01A-11D-2340-08	TCGA-BR-8371-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8509693c-ad35-4c24-80de-f84ae07fe87e	be24ceb1-6f72-48d3-8dc9-7649fd72609f	g.chr12:70049306T>G	uc001svg.2	-	10	1615	c.1388A>C	c.(1387-1389)CAC>CCC	p.H463P	BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.H250P|BEST3_uc010stm.1_Missense_Mutation_p.H357P	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	463	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CATGCTGAAGTGCAGCGTGGG	0.587													G	70049306	T	G	70049306	3	3	83	1	0	0	0	0	1	0	0	0	1406	1696	59	5	622	5	BEST3	12	70049306	Missense_Mutation	SNP	T	TCGA-BR-8371-01A-11D-2340-08	61803717	70049306	63802589	13	55533											
RIMBP2	23504	broad.mit.edu	37	chr12	130919389	130919389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggcggcgtactgccccgCgctgcttctctctaggaaga	13	13	2	2			TCGA-BR-8371-01A-11D-2340-08	TCGA-BR-8371-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8509693c-ad35-4c24-80de-f84ae07fe87e	be24ceb1-6f72-48d3-8dc9-7649fd72609f	g.chr12:130919389C>T	uc001uil.2	-	11	2256	c.2092G>A	c.(2092-2094)GCG>ACG	p.A698T	RIMBP2_uc001uim.2_Missense_Mutation_p.A606T|RIMBP2_uc001uin.1_Missense_Mutation_p.A357T	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	698						cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TACTGCCCCGCGCTGCTTCTC	0.592													T	130919389	C	T	130919389	3	4	83	1	0	0	0	0	1	0	0	0	13363	768	27	1	1102	1	RIMBP2	12	130919389	Missense_Mutation	SNP	C	TCGA-BR-8371-01A-11D-2340-08	60870083	130919389	2932506	14	55534											
ATP8A2	51761	broad.mit.edu	37	chr13	26343262	26343262	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaccctcgccatcggagaCggcgccaacgatgtcgggat	12	14	1	1			TCGA-BR-8371-01A-11D-2340-08	TCGA-BR-8371-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8509693c-ad35-4c24-80de-f84ae07fe87e	be24ceb1-6f72-48d3-8dc9-7649fd72609f	g.chr13:26343262C>T	uc001uqk.2	+	26	2605	c.2463C>T	c.(2461-2463)GAC>GAT	p.D821D	ATP8A2_uc010tdi.1_Silent_p.D781D|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Silent_p.D371D	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	781	Cytoplasmic (Potential).	Magnesium (By similarity).			ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CCATCGGAGACGGCGCCAACG	0.557													T	26343262	C	T	26343262	2	4	83	1	0	0	0	0	0	0	0	1	1193	535	19	1		1	ATP8A2	13	26343262	Silent	SNP	C	TCGA-BR-8371-01A-11D-2340-08		26343262	88826616	15	55535											
FTO	79068	broad.mit.edu	37	chr16	53860211	53860211	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggatgggttcatcctacaacGgacaagatgaagtggacatt	12	7	1	2			TCGA-BR-8371-01A-11D-2340-08	TCGA-BR-8371-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8509693c-ad35-4c24-80de-f84ae07fe87e	be24ceb1-6f72-48d3-8dc9-7649fd72609f	g.chr16:53860211G>C	uc002ehr.2	+	3	781	c.559G>C	c.(559-561)GGA>CGA	p.G187R	FTO_uc010vha.1_Intron	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	187	Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						ATCCTACAACGGACAAGATGA	0.448													C	53860211	G	C	53860211	3	2	83	1	0	0	0	0	1	0	0	0	6086	1117	39	5	569	5	FTO	16	53860211	Missense_Mutation	SNP	G	TCGA-BR-8371-01A-11D-2340-08		53860211	36494542	16	55536											
CDH3	1001	broad.mit.edu	37	chr16	68718494	68718494	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttctctcctagggtttggaTtttgaggccaaaaaccagca	9	10	1	1			TCGA-BR-8371-01A-11D-2340-08	TCGA-BR-8371-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8509693c-ad35-4c24-80de-f84ae07fe87e	be24ceb1-6f72-48d3-8dc9-7649fd72609f	g.chr16:68718494T>A	uc002ewf.2	+	10	2323	c.1191T>A	c.(1189-1191)GAT>GAA	p.D397E	CDH3_uc010vli.1_Missense_Mutation_p.D342E	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	397	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		AGGGTTTGGATTTTGAGGCCA	0.517													A	68718494	T	A	68718494	3	1	83	1	0	0	0	0	1	0	0	0	3111	1490	52	5	1229	5	CDH3	16	68718494	Missense_Mutation	SNP	T	TCGA-BR-8371-01A-11D-2340-08	14858283	68718494	21636259	17	55537											
ABCA7	10347	broad.mit.edu	37	chr19	1042792	1042792	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggagcccttgcacagCttgttggaggccgctgagga	15	12	0	1			TCGA-BR-8371-01A-11D-2340-08	TCGA-BR-8371-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8509693c-ad35-4c24-80de-f84ae07fe87e	be24ceb1-6f72-48d3-8dc9-7649fd72609f	g.chr19:1042792C>T	uc002lqw.3	+	7	777	c.546C>T	c.(544-546)AGC>AGT	p.S182S	ABCA7_uc010dsb.1_Silent_p.S44S	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	182	Extracellular (By similarity).				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTGCACAGCTTGTTGGAGG	0.632													T	1042792	C	T	1042792	2	4	83	1	0	0	0	0	0	0	0	1	37	796	28	2		2	ABCA7	19	1042792	Silent	SNP	C	TCGA-BR-8371-01A-11D-2340-08		1042792	58086191	18	55538											
FBN3	84467	broad.mit.edu	37	chr19	8212045	8212045	+	Frame_Shift_Del	DEL	G	G	-													gcctggacagcagtaggcatGgaaccgggagccgcacacat							TCGA-BR-8371-01A-11D-2340-08	TCGA-BR-8371-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8509693c-ad35-4c24-80de-f84ae07fe87e	be24ceb1-6f72-48d3-8dc9-7649fd72609f	g.chr19:8212045delG	uc002mjf.2	-	2	214	c.193delC	c.(193-195)CATfs	p.H65fs		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	65						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CAGTAGGCATGGAACCGGGAG	0.677													-	8212045	G	-	8212045	7	5	83	1	0	1	0	1	0	0	0	0	5704	1348	47	0	8484	0	FBN3	19	8212045	Frame_Shift_Del	DEL	G	TCGA-BR-8371-01A-11D-2340-08	7169253	8212045	50916938	19	55539											
CRX	1406	broad.mit.edu	37	chr19	48342758	48342758	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcagattcctacagtccccCtctgcccggcccctcaggct	7	20	3	1			TCGA-BR-8371-01A-11D-2340-08	TCGA-BR-8371-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8509693c-ad35-4c24-80de-f84ae07fe87e	be24ceb1-6f72-48d3-8dc9-7649fd72609f	g.chr19:48342758C>A	uc002phq.3	+	4	638	c.434C>A	c.(433-435)CCT>CAT	p.P145H		NM_000554	NP_000545	O43186	CRX_HUMAN	cone-rod homeobox protein	145					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TACAGTCCCCCTCTGCCCGGC	0.672													A	48342758	C	A	48342758	3	1	83	1	0	0	0	0	1	0	0	0	3902	681	24	5	444	5	CRX	19	48342758	Missense_Mutation	SNP	C	TCGA-BR-8371-01A-11D-2340-08	40130713	48342758	10786225	20	55540											
U2AF1	7307	broad.mit.edu	37	chr21	44524474	44524474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagcacctgtctccatgaCgacatgctccaattttgaaa	8	11	1	3			TCGA-BR-8371-01A-11D-2340-08	TCGA-BR-8371-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8509693c-ad35-4c24-80de-f84ae07fe87e	be24ceb1-6f72-48d3-8dc9-7649fd72609f	g.chr21:44524474C>T	uc002zda.1	-	2	167	c.83G>A	c.(82-84)CGT>CAT	p.R28H	U2AF1_uc002zcy.1_5'UTR|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Missense_Mutation_p.R28H|U2AF1_uc010gpi.1_Missense_Mutation_p.R28H|U2AF1_uc002zdc.1_Missense_Mutation_p.R28H	NM_001025203	NP_001020374	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxillary factor 1 isoform	28	C3H1-type 1.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding				0						GTCTCCATGACGACATGCTCC	0.363													T	44524474	C	T	44524474	3	4	83	1	0	0	0	0	1	0	0	0	16818	536	19	1	738	1	U2AF1	21	44524474	Missense_Mutation	SNP	C	TCGA-BR-8371-01A-11D-2340-08		44524474	3605421	21	55541											
MAGEB3	4114	broad.mit.edu	37	chrX	30254145	30254145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagatcactgcaactaacaAgaaaaaagtatccttttcat	4	9	3	2			TCGA-BR-8371-01A-11D-2340-08	TCGA-BR-8371-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8509693c-ad35-4c24-80de-f84ae07fe87e	be24ceb1-6f72-48d3-8dc9-7649fd72609f	g.chrX:30254145A>G	uc004dca.1	+	5	841	c.104A>G	c.(103-105)AAG>AGG	p.K35R		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	35											0						GCAACTAACAAGAAAAAAGTA	0.517													G	30254145	A	G	30254145	3	3	83	1	0	0	0	0	1	0	0	0	9177	72	3	3	106	3	MAGEB3	23	30254145	Missense_Mutation	SNP	A	TCGA-BR-8371-01A-11D-2340-08		30254145	125016415	22	55542											
MMGT1	93380	broad.mit.edu	37	chrX	135049608	135049608	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgcaatatgaactatAccgtaacaggtaactgcaaa	6	10	1	1			TCGA-BR-8371-01A-11D-2340-08	TCGA-BR-8371-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8509693c-ad35-4c24-80de-f84ae07fe87e	be24ceb1-6f72-48d3-8dc9-7649fd72609f	g.chrX:135049608A>G	uc004ezi.1	-	3	477	c.177T>C	c.(175-177)GGT>GGC	p.G59G	MMGT1_uc011mvw.1_Silent_p.G124G	NM_173470	NP_775741	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1 precursor	59	Helical; (Potential).					early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity				0						TATGAACTATACCGTAACAGG	0.323													G	135049608	A	G	135049608	2	3	83	1	0	0	0	0	0	0	0	1	9647	378	14	3		3	MMGT1	23	135049608	Silent	SNP	A	TCGA-BR-8371-01A-11D-2340-08	104795463	135049608	20220952	23	55543											
TTLL10	254173	broad.mit.edu	37	chr1	1120411	1120411	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacacggtgtggagcatggaAcacctcaaccgctacatcag	10	13	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:1120411A>G	uc001acy.2	+	13	1474	c.1323A>G	c.(1321-1323)GAA>GAG	p.E441E	TTLL10_uc010nyg.1_Silent_p.E441E|TTLL10_uc001acz.1_Silent_p.E368E	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	441	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			large_intestine(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGAGCATGGAACACCTCAACC	0.607													G	1120411	A	G	1120411	2	3	84	1	0	0	0	0	0	0	0	1	16720	40	2	3		3	TTLL10	1	1120411	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08		1120411	248130210	1	55544											
B3GALT6	126792	broad.mit.edu	37	chr1	1168240	1168241	+	Frame_Shift_Ins	INS	-	-	G													gccgcggccgcgtcaagccgINSggggggcgctggcgcgaggc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:1168239_1168240C>CG	uc001adk.3	+	0	611_612	c.581_582C>CG	c.(580-582)ccgfs	p.P194fs	SDF4_uc001adh.4_5'Flank|SDF4_uc001adi.4_5'Flank|SDF4_uc009vjw.3_5'Flank	NM_080605	NP_542172	Q96L58	B3GT6_HUMAN	Homo sapiens UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 (B3GALT6), mRNA.	194					glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase activity			lung(3)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGCGTCAAGCCGGGGGGGCGCT	0.772													G	1168241	-	G	1168240	7	5	84	1	0	1	1	0	0	0	0	0	1251	1103	39	0	584	0	B3GALT6	1	1168240	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	47829	1168240	248082381	2	55545											
PUSL1	126789	broad.mit.edu	37	chr1	1244909	1244909	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccggacctacctgtaccgCctggccactggctgtcaccg	10	18	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:1244909C>T	uc001aed.2	+	4	429	c.399C>T	c.(397-399)CGC>CGT	p.R133R	ACAP3_uc001aeb.2_5'Flank|ACAP3_uc001aec.1_5'UTR|PUSL1_uc010nyi.1_5'UTR|PUSL1_uc009vjx.2_5'UTR	NM_153339	NP_699170	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	133					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			skin(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCTGTACCGCCTGGCCACTG	0.657													T	1244909	C	T	1244909	2	4	84	1	0	0	0	0	0	0	0	1	12835	726	26	2		2	PUSL1	1	1244909	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	76669	1244909	248005712	3	55546											
KIAA1751	85452	broad.mit.edu	37	chr1	1887130	1887130	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcctggcagcctggctcacCtgcgggctgctcctcctcct	12	18	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:1887130C>A	uc001aim.1	-	18	2332	c.2176G>T	c.(2176-2178)GGT>TGT	p.G726C	KIAA1751_uc009vkz.1_Missense_Mutation_p.V726L	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	726										pancreas(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CCTGGCTCACCTGCGGGCTGC	0.687													A	1887130	C	A	1887130	3	1	84	1	0	0	0	0	1	0	0	0	8256	681	24	5	116	5	KIAA1751	1	1887130	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	642221	1887130	247363491	4	55547											
KIAA1751	85452	broad.mit.edu	37	chr1	1895288	1895288	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtgatctttttcttgtacaCtttgccaatatcaaagtcct	5	10	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:1895288C>A	uc001aim.1	-	14	1750	c.1594G>T	c.(1594-1596)GTG>TTG	p.V532L	KIAA1751_uc009vkz.1_Missense_Mutation_p.V532L	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	532										pancreas(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TTCTTGTACACTTTGCCAATA	0.542													A	1895288	C	A	1895288	3	1	84	1	0	0	0	0	1	0	0	0	8256	565	20	5	714	5	KIAA1751	1	1895288	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	8158	1895288	247355333	5	55548											
SKI	6497	broad.mit.edu	37	chr1	2237624	2237624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgggagctggagcaggcgCggcaggcccgggtgtgcgac	21	11	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:2237624C>T	uc001aja.3	+	6	2005	c.1933C>T	c.(1933-1935)CGG>TGG	p.R645W		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	645	Potential.				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GGAGCAGGCGCGGCAGGCCCG	0.692													T	2237624	C	T	2237624	3	4	84	1	0	0	0	0	1	0	0	0	14357	759	27	1	1955	1	SKI	1	2237624	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	342336	2237624	247012997	6	55549											
KIAA0562	9731	broad.mit.edu	37	chr1	3750491	3750491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagttctggtgagcaaaaCgggaatggtcctctccacac	10	12	2	1	rs148927222		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:3750491C>T	uc001aky.2	-	12	1953	c.1594G>A	c.(1594-1596)GTT>ATT	p.V532I	KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Missense_Mutation_p.V532I	NM_014704	NP_055519	O60308	CE104_HUMAN	glycine-, glutamate-,	532	HEAT 1.					centriole	binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)		GTGAGCAAAACGGGAATGGTC	0.423													T	3750491	C	T	3750491	3	4	84	1	0	0	0	0	1	0	0	0	8184	536	19	1	1227	1	KIAA0562	1	3750491	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1512867	3750491	245500130	7	55550											
UBE4B	10277	broad.mit.edu	37	chr1	10166465	10166465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtcactcacccatgggcGtcctcaggcgtctccattct	8	16	5	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:10166465G>A	uc001aqs.3	+	7	1733	c.1020G>A	c.(1018-1020)GCG>GCA	p.A340A	UBE4B_uc001aqr.3_Intron|UBE4B_uc010oai.1_Intron|UBE4B_uc010oaj.1_Intron	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	340					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ACCCATGGGCGTCCTCAGGCG	0.652													A	10166465	G	A	10166465	2	1	84	1	0	0	0	0	0	0	0	1	16880	1132	40	1		1	UBE4B	1	10166465	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	6415974	10166465	239084156	8	55551											
CASZ1	54897	broad.mit.edu	37	chr1	10713683	10713683	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcccacaggcagggaggTgctcccacggccagccagta	15	14	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:10713683T>C	uc001aro.2	-	11	2751	c.2431A>G	c.(2431-2433)ACC>GCC	p.T811A	CASZ1_uc001arp.1_Missense_Mutation_p.T811A|CASZ1_uc009vmx.2_Missense_Mutation_p.T835A	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGCAGGGAGGTGCTCCCACGG	0.716													C	10713683	T	C	10713683	3	2	84	1	0	0	0	0	1	0	0	0	2685	1696	59	3	2896	3	CASZ1	1	10713683	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	547218	10713683	238536938	9	55552											
PLOD1	5351	broad.mit.edu	37	chr1	12024291	12024291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtcgaacttctggggggCtctcagtgcagatggctact	15	9	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:12024291C>T	uc001atm.2	+	12	1353	c.1262C>T	c.(1261-1263)GCT>GTT	p.A421V	PLOD1_uc010obb.1_Missense_Mutation_p.A468V	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	lysyl hydroxylase 1 precursor	421					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			ovary(2)|breast(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTCTGGGGGGCTCTCAGTGCA	0.637													T	12024291	C	T	12024291	3	4	84	1	0	0	0	0	1	0	0	0	12101	797	28	2	1308	2	PLOD1	1	12024291	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1310608	12024291	237226330	10	55553											
TMEM51	55092	broad.mit.edu	37	chr1	15541718	15541718	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggccgagaagccaacagcTcagggcagcaacaagaccga	13	13	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:15541718T>C	uc001avw.3	+	3	654	c.135T>C	c.(133-135)GCT>GCC	p.A45A	TMEM51_uc010obk.1_Silent_p.A45A|TMEM51_uc001avz.2_Silent_p.A45A|TMEM51_uc001avy.2_Silent_p.A45A|TMEM51_uc001avx.2_Silent_p.A45A	NM_001136216	NP_001129688	Q9NW97	TMM51_HUMAN	transmembrane protein 51	45						integral to membrane					0		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		AGCCAACAGCTCAGGGCAGCA	0.647													C	15541718	T	C	15541718	2	2	84	1	0	0	0	0	0	0	0	1	16174	1538	54	3		3	TMEM51	1	15541718	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	3517427	15541718	233708903	11	55554											
SPEN	23013	broad.mit.edu	37	chr1	16247461	16247461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccaaagggaggaaaatcGgtgggaataaaattaaggtg	14	3	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:16247461G>A	uc001axk.1	+	9	1936	c.1732G>A	c.(1732-1734)GGT>AGT	p.G578S	SPEN_uc010obp.1_Missense_Mutation_p.G537S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	578	RRM 4.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAGGAAAATCGGTGGGAATAA	0.363													A	16247461	G	A	16247461	3	1	84	1	0	0	0	0	1	0	0	0	15037	1116	39	1	1766	1	SPEN	1	16247461	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	705743	16247461	233003160	12	55555											
SPEN	23013	broad.mit.edu	37	chr1	16255883	16255883	+	Frame_Shift_Del	DEL	A	A	-													aaattcttaaaagagaatctAaaaaaatcaaactggacaga							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:16255882_16255882TA>T	uc001axk.1	+	10	3351	c.3147_3147TA>T	c.(3145-3147)tctfs	p.S1049fs	SPEN_uc010obp.1_Frame_Shift_Del_p.S1008fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1049					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAGAGAATCTAAAAAAATCA	0.463													-	16255883	A	-	16255883	7	5	84	1	0	1	0	1	0	0	0	0	15037	363	13	0	3190	0	SPEN	1	16255883	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	8422	16255883	232994738	13	55556											
SPEN	23013	broad.mit.edu	37	chr1	16258889	16258889	+	Frame_Shift_Del	DEL	A	A	-													gaaaagatgctggcacagacAaaaacccccctgaaaccgcc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:16258888_16258888CA>C	uc001axk.1	+	10	6357	c.6153_6153CA>C	c.(6151-6153)gacfs	p.D2051fs	SPEN_uc010obp.1_Frame_Shift_Del_p.D2010fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2051					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGGCACAGACAAAAACCCCC	0.507													-	16258889	A	-	16258889	7	5	84	1	0	1	0	1	0	0	0	0	15037	131	5	0	6196	0	SPEN	1	16258889	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	3006	16258889	232991732	14	55557											
CROCC	9696	broad.mit.edu	37	chr1	17281831	17281831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagcttcggacccagctgCgtctgctggaggatgcccgt	14	12	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:17281831C>T	uc001azt.2	+	24	3559	c.3490C>T	c.(3490-3492)CGT>TGT	p.R1164C	CROCC_uc001azu.2_Missense_Mutation_p.R467C	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	1164	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GACCCAGCTGCGTCTGCTGGA	0.697													T	17281831	C	T	17281831	3	4	84	1	0	0	0	0	1	0	0	0	3893	768	27	1	3584	1	CROCC	1	17281831	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1022942	17281831	231968790	15	55558											
ATP13A2	23400	broad.mit.edu	37	chr1	17313302	17313302	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgcccgcagtggcaccaTtggtgtagagcggccggcgg	17	14	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:17313302T>C	uc001baa.2	-	27	3423	c.3233A>G	c.(3232-3234)AAT>AGT	p.N1078S	ATP13A2_uc001azz.1_Missense_Mutation_p.N225S|ATP13A2_uc001bab.2_Missense_Mutation_p.N1073S|ATP13A2_uc001bac.2_Missense_Mutation_p.N1034S	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	1078	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGTGGCACCATTGGTGTAGAG	0.677													C	17313302	T	C	17313302	3	2	84	1	0	0	0	0	1	0	0	0	1124	1493	52	3	557	3	ATP13A2	1	17313302	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	31471	17313302	231937319	16	55559											
PADI2	11240	broad.mit.edu	37	chr1	17431417	17431417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctggctcatggtgacccGcagggtggtgctgggcgaga	18	11	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:17431417G>A	uc001baf.2	-	2	314	c.232C>T	c.(232-234)CGG>TGG	p.R78W	PADI2_uc010ocm.1_Missense_Mutation_p.R78W|PADI2_uc001bag.1_Missense_Mutation_p.R78W	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	78					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	ATGGTGACCCGCAGGGTGGTG	0.672													A	17431417	G	A	17431417	3	1	84	1	0	0	0	0	1	0	0	0	11378	1086	38	1	1825	1	PADI2	1	17431417	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	118115	17431417	231819204	17	55560											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17914943	17914943	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgctcttcttttgcagacCcagacccagcagctgctcca	7	16	3	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:17914943C>A	uc001ban.2	+	4	385	c.226C>A	c.(226-228)CCA>ACA	p.P76T	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.P76T|ARHGEF10L_uc001bao.2_Missense_Mutation_p.P76T|ARHGEF10L_uc001bap.2_Missense_Mutation_p.P76T|ARHGEF10L_uc010ocr.1_5'UTR	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	76					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TTTTGCAGACCCAGACCCAGC	0.652													A	17914943	C	A	17914943	3	1	84	1	0	0	0	0	1	0	0	0	895	623	22	5	236	5	ARHGEF10L	1	17914943	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	483526	17914943	231335678	18	55561											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17990974	17990974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacctggagagccctcccGtgtgcctgactgtggggccc	16	14	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:17990974G>A	uc001ban.2	+	26	3052	c.2893G>A	c.(2893-2895)GTG>ATG	p.V965M	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.V926M|ARHGEF10L_uc001bao.2_Missense_Mutation_p.V926M|ARHGEF10L_uc001bap.2_Missense_Mutation_p.V921M|ARHGEF10L_uc001baq.2_Missense_Mutation_p.V726M|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.V738M|ARHGEF10L_uc001bar.2_Missense_Mutation_p.V668M|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	965					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GAGCCCTCCCGTGTGCCTGAC	0.697													A	17990974	G	A	17990974	3	1	84	1	0	0	0	0	1	0	0	0	895	1145	40	1	2991	1	ARHGEF10L	1	17990974	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	76031	17990974	231259647	19	55562											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809662	18809662	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacctcatctactgcgtgggAcgccggagcaccctctgctt	10	15	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:18809662A>G	uc001bax.2	+	1	2239	c.2187A>G	c.(2185-2187)GGA>GGG	p.G729G	KLHDC7A_uc009vpg.2_Silent_p.G511G	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	729						integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGCGTGGGACGCCGGAGCA	0.667													G	18809662	A	G	18809662	2	3	84	1	0	0	0	0	0	0	0	1	8360	262	10	3		3	KLHDC7A	1	18809662	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	818688	18809662	230440959	20	55563											
PAX7	5081	broad.mit.edu	37	chr1	18958157	18958157	+	Frame_Shift_Del	DEL	C	C	-													ccggctccggggcagaactaCccccgcacgggattcccttt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:18958156_18958156AC>A	uc001bay.3	+	0	657	c.59_59AC>A	c.(58-60)tacfs	p.Y20fs	PAX7_uc001baz.3_Frame_Shift_Del_p.Y20fs|PAX7_uc010oct.2_Frame_Shift_Del_p.Y20fs	NM_002584	NP_002575	P23759	PAX7_HUMAN	Homo sapiens paired box 7 (PAX7), transcript variant 1, mRNA.	20					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		GGGCAGAACTACCCCCGCACG	0.667			T	FOXO1A	alveolar rhabdomyosarcoma								-	18958157	C	-	18958157	7	5	84	1	0	1	0	1	0	0	0	0	11484	518	18	0	62	0	PAX7	1	18958157	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	148495	18958157	230292464	21	55564											
TAS1R2	80834	broad.mit.edu	37	chr1	19166729	19166729	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctggcggcagaggcaggtGgagaccttgggcggccccac	18	13	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:19166729G>T	uc001bba.1	-	6	1885	c.1884C>A	c.(1882-1884)TCC>TCA	p.S628S		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	628	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGAGGCAGGTGGAGACCTTGG	0.612													T	19166729	G	T	19166729	2	4	84	1	0	0	0	0	0	0	0	1	15560	1335	47	5		5	TAS1R2	1	19166729	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	208572	19166729	230083892	22	55565											
UBR4	23352	broad.mit.edu	37	chr1	19480401	19480401	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacctcagaccactggcaaAgagcaggagaagtcttactg	10	11	3	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:19480401A>C	uc001bbi.2	-	45	6495	c.6491T>G	c.(6490-6492)CTT>CGT	p.L2164R	UBR4_uc001bbk.1_5'Flank|UBR4_uc001bbl.1_Missense_Mutation_p.L101R|UBR4_uc001bbm.1_Missense_Mutation_p.L1376R	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2164					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCACTGGCAAAGAGCAGGAGA	0.478													C	19480401	A	C	19480401	3	2	84	1	0	0	0	0	1	0	0	0	16901	72	3	5	9308	5	UBR4	1	19480401	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	313672	19480401	229770220	23	55566											
UBR4	23352	broad.mit.edu	37	chr1	19505634	19505635	+	Frame_Shift_Del	DEL	AG	AG	-													agcaggaggcgtgaaagcacAgagaggctttgagggtgaat							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:19505634_19505635delAG	uc001bbi.2	-	18	2268_2269	c.2264_2265delCT	c.(2263-2265)TCTfs	p.S755fs	UBR4_uc001bbm.1_5'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	755					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTGAAAGCACAGAGAGGCTTTG	0.51													-	19505635	AG	-	19505634	7	5	84	1	0	1	0	1	0	0	0	0	16901	175	7	0	13642	0	UBR4	1	19505634	Frame_Shift_Del	DEL	AG	TCGA-BR-8372-01A-11D-2340-08	25233	19505634	229744987	24	55567											
KIAA0090	23065	broad.mit.edu	37	chr1	19564605	19564605	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaggtataggttaatggtgTaggtctgattgaagcaagcc	14	5	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:19564605T>C	uc001bbo.2	-	11	1161	c.1118A>G	c.(1117-1119)TAC>TGC	p.Y373C	KIAA0090_uc001bbp.2_Missense_Mutation_p.Y373C|KIAA0090_uc001bbq.2_Missense_Mutation_p.Y372C|KIAA0090_uc001bbr.2_Missense_Mutation_p.Y351C	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	373	Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		GTTAATGGTGTAGGTCTGATT	0.547													C	19564605	T	C	19564605	3	2	84	1	0	0	0	0	1	0	0	0	8153	1638	57	3	1915	3	KIAA0090	1	19564605	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	58971	19564605	229686016	25	55568											
AKR7A2	8574	broad.mit.edu	37	chr1	19634729	19634729	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttcccagctagcatagtTggagaggccaagctccacga	10	13	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:19634729T>C	uc001bbw.2	-	3	536	c.514A>G	c.(514-516)AAC>GAC	p.N172D	AKR7A2_uc001bbx.2_Intron|AKR7A2_uc009vpi.1_Missense_Mutation_p.N172D	NM_003689	NP_003680	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2	172	NADP.				carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTAGCATAGTTGGAGAGGCCA	0.632													C	19634729	T	C	19634729	3	2	84	1	0	0	0	0	1	0	0	0	475	1812	63	3	585	3	AKR7A2	1	19634729	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	70124	19634729	229615892	26	55569											
EIF4G3	8672	broad.mit.edu	37	chr1	21191710	21191710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggttcagtagcagcttccGgaaattcactgtgttaccag	10	10	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:21191710G>A	uc001bec.2	-	16	2756	c.2500C>T	c.(2500-2502)CGG>TGG	p.R834W	EIF4G3_uc010odi.1_Missense_Mutation_p.R438W|EIF4G3_uc010odj.1_Missense_Mutation_p.R833W|EIF4G3_uc009vpz.2_Missense_Mutation_p.R554W|EIF4G3_uc001bed.2_Missense_Mutation_p.R834W|EIF4G3_uc001bef.2_Missense_Mutation_p.R870W|EIF4G3_uc001bee.2_Missense_Mutation_p.R840W	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	834	eIF3/EIF4A-binding (By similarity).|MIF4G.|HEAT 3.			RK->DD: Reduces binding to IRES.	interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGCAGCTTCCGGAAATTCACT	0.403													A	21191710	G	A	21191710	3	1	84	1	0	0	0	0	1	0	0	0	5038	1115	39	1	2325	1	EIF4G3	1	21191710	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1556981	21191710	228058911	27	55570											
EIF4G3	8672	broad.mit.edu	37	chr1	21306905	21306905	+	Frame_Shift_Del	DEL	G	G	-													tggttgaactggatattgttGggggggcccaacataaggag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:21306904_21306904TG>T	uc001bec.3	-	4	504	c.248_248CA>A	c.(247-249)caafs	p.Q83fs	EIF4G3_uc010odj.2_Frame_Shift_Del_p.Q83fs|EIF4G3_uc009vpz.3_Frame_Shift_Del_p.Q83fs|EIF4G3_uc001bef.3_Frame_Shift_Del_p.Q83fs|EIF4G3_uc001bee.3_Frame_Shift_Del_p.Q90fs|EIF4G3_uc001beg.3_Frame_Shift_Del_p.Q83fs|EIF4G3_uc010odk.2_Frame_Shift_Del_p.Q83fs|EIF4G3_uc001beh.3_Frame_Shift_Del_p.Q94fs	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	83					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity	p.P82R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGATATTGTTGGGGGGGCCC	0.443													-	21306905	G	-	21306905	7	5	84	1	0	1	0	1	0	0	0	0	5038	1357	47	0	4622	0	EIF4G3	1	21306905	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	115195	21306905	227943716	28	55571											
LDLRAD2	401944	broad.mit.edu	37	chr1	22141090	22141090	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacccccgcgcccccggcGctcaacacctcctccccggc	8	25	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:22141090G>A	uc001bfg.1	+	2	472	c.285G>A	c.(283-285)GCG>GCA	p.A95A		NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain	95	Extracellular (Potential).					integral to membrane	receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		CGCCCCCGGCGCTCAACACCT	0.642													A	22141090	G	A	22141090	2	1	84	1	0	0	0	0	0	0	0	1	8706	1074	38	1		1	LDLRAD2	1	22141090	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	834185	22141090	227109531	29	55572											
HSPG2	3339	broad.mit.edu	37	chr1	22183650	22183650	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcgggtgggcagtttcccGttgtgcaggcgggtccacac	16	12	0	0	rs140134749	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:22183650G>A	uc001bfj.2	-	44	5473	c.5433C>T	c.(5431-5433)AAC>AAT	p.N1811N	HSPG2_uc009vqd.2_Silent_p.N1812N	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	1811	Ig-like C2-type 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCAGTTTCCCGTTGTGCAGGC	0.607													A	22183650	G	A	22183650	2	1	84	1	0	0	0	0	0	0	0	1	7430	1136	40	1		1	HSPG2	1	22183650	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	42560	22183650	227066971	30	55573											
C1QC	714	broad.mit.edu	37	chr1	22973964	22973964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgatcagattcaacgcGgtcctcaccaacccgcaggg	10	15	3	2	rs141293786		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:22973964G>A	uc001bgc.3	+	3	529	c.426G>A	c.(424-426)GCG>GCA	p.A142A	C1QC_uc001bga.3_Silent_p.A142A|C1QC_uc001bgb.2_Silent_p.A142A	NM_172369	NP_758957	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	142	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GATTCAACGCGGTCCTCACCA	0.567													A	22973964	G	A	22973964	2	1	84	1	0	0	0	0	0	0	0	1	1957	1103	39	1		1	C1QC	1	22973964	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	790314	22973964	226276657	31	55574											
IL22RA1	58985	broad.mit.edu	37	chr1	24447436	24447436	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactccagcaggccccagggActtggaccttggtccgaggg	15	13	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:24447436A>G	uc001biq.1	-	7	1623	c.1584T>C	c.(1582-1584)AGT>AGC	p.S528S	IL22RA1_uc010oeg.1_Silent_p.S460S|IL22RA1_uc009vrb.1_Silent_p.S392S|IL22RA1_uc010oeh.1_3'UTR	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1 precursor	528	Cytoplasmic (Potential).					integral to membrane	interferon receptor activity			skin(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GGCCCCAGGGACTTGGACCTT	0.622													G	24447436	A	G	24447436	2	3	84	1	0	0	0	0	0	0	0	1	7673	272	10	3		3	IL22RA1	1	24447436	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1473472	24447436	224803185	32	55575											
TMEM57	55219	broad.mit.edu	37	chr1	25780773	25780773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggagtgtgtttgcctacaGtgtctctctggatcctcttt	12	9	3	0	rs113398522		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:25780773G>A	uc001bkk.2	+	4	575	c.373G>A	c.(373-375)GTG>ATG	p.V125M	TMEM57_uc009vru.2_Missense_Mutation_p.V125M|TMEM57_uc009vrv.2_Intron|TMEM57_uc009vrt.2_RNA	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	125	Helical; (Potential).					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part					0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGCCTACAGTGTCTCTCTG	0.393													A	25780773	G	A	25780773	3	1	84	1	0	0	0	0	1	0	0	0	16181	1029	36	4	387	4	TMEM57	1	25780773	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1333337	25780773	223469848	33	55576											
EXTL1	2134	broad.mit.edu	37	chr1	26349202	26349202	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctcctggctcctgcttgTcctgctgggaggcttctccc	11	16	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:26349202T>C	uc001blf.2	+	1	932	c.65T>C	c.(64-66)GTC>GCC	p.V22A		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	exostoses-like 1	22	Helical; Signal-anchor for type II membrane protein; (Potential).				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCTGCTTGTCCTGCTGGGA	0.657													C	26349202	T	C	26349202	3	2	84	1	0	0	0	0	1	0	0	0	5325	1667	58	3	67	3	EXTL1	1	26349202	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	568429	26349202	222901419	34	55577											
CNKSR1	10256	broad.mit.edu	37	chr1	26515997	26515997	+	Frame_Shift_Del	DEL	C	C	-													gaagagcactcccatctctgCcccctgacctcagagagcag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:26515996_26515996GC>G	uc001bln.4	+	20	2178	c.2120_2120GC>G	c.(2119-2121)tgcfs	p.C707fs	CNKSR1_uc001blm.4_Frame_Shift_Del_p.C700fs|CNKSR1_uc009vsd.3_Frame_Shift_Del_p.C442fs|CNKSR1_uc009vse.3_Frame_Shift_Del_p.C442fs|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	707					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCATCTCTGCCCCCTGACC	0.627													-	26515997	C	-	26515997	7	5	84	1	0	1	0	1	0	0	0	0	3606	747	26	0	2182	0	CNKSR1	1	26515997	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	166795	26515997	222734624	35	55578											
HMGN2	3151	broad.mit.edu	37	chr1	26800609	26800609	+	Frame_Shift_Del	DEL	A	A	-													caaagccagagcccaagcctAaaaaggcccctgcaaaggta							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:26800608_26800608TA>T	uc001bmp.4	+	3	325	c.123_123TA>T	c.(121-123)cctfs	p.P41fs		NM_005517	NP_005508	P05204	HMGN2_HUMAN	Homo sapiens high mobility group nucleosomal binding domain 2 (HMGN2), mRNA.	41					chromatin organization|regulation of transcription, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding|protein binding			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		AGCCCAAGCCTAAAAAGGCCC	0.438													-	26800609	A	-	26800609	7	5	84	1	0	1	0	1	0	0	0	0	7235	363	13	0	138	0	HMGN2	1	26800609	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	284612	26800609	222450012	36	55579											
ARID1A	8289	broad.mit.edu	37	chr1	27101055	27101055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacagctgctactgagcgccGaccagcaggcggcccccaga	12	17	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:27101055G>A	uc001bmv.1	+	18	4710	c.4337G>A	c.(4336-4338)CGA>CAA	p.R1446Q	ARID1A_uc001bmt.1_Missense_Mutation_p.R1445Q|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Missense_Mutation_p.R1063Q|ARID1A_uc001bmx.1_Missense_Mutation_p.R292Q|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1446					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACTGAGCGCCGACCAGCAGGC	0.587			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								A	27101055	G	A	27101055	3	1	84	1	0	0	0	0	1	0	0	0	913	1058	37	1	4407	1	ARID1A	1	27101055	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	300446	27101055	222149566	37	55580											
GPATCH3	63906	broad.mit.edu	37	chr1	27218981	27218981	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagcacctgcagcccaggcCctggccctcagcccagccct	10	20	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:27218981C>A	uc001bne.2	-	6	1311	c.1282G>T	c.(1282-1284)GGC>TGC	p.G428C	GPN2_uc001bnd.1_5'Flank|GPATCH3_uc009vsp.1_Missense_Mutation_p.G239C	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	G patch domain containing 3	428	G-patch.					intracellular	nucleic acid binding				0		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CAGCCCAGGCCCTGGCCCTCA	0.627													A	27218981	C	A	27218981	3	1	84	1	0	0	0	0	1	0	0	0	6592	623	22	5	303	5	GPATCH3	1	27218981	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	117926	27218981	222031640	38	55581											
AHDC1	27245	broad.mit.edu	37	chr1	27878058	27878058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggatggctgggccgctccGacttggcgtgtggggtggcc	21	10	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:27878058G>A	uc009vsy.2	-	6	1538	c.569C>T	c.(568-570)TCG>TTG	p.S190L	AHDC1_uc009vsz.1_Missense_Mutation_p.S190L|AHDC1_uc001boh.1_Missense_Mutation_p.S63L	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	190	Pro-rich.						DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGGCCGCTCCGACTTGGCGTG	0.677													A	27878058	G	A	27878058	3	1	84	1	0	0	0	0	1	0	0	0	412	1059	37	1	4246	1	AHDC1	1	27878058	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	659077	27878058	221372563	39	55582											
MED18	54797	broad.mit.edu	37	chr1	28661170	28661170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccctggtgcgaaactgcGtggacattgccacatctgag	12	11	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:28661170G>A	uc001bpt.3	+	3	561	c.316G>A	c.(316-318)GTG>ATG	p.V106M	MED18_uc009vtg.2_Missense_Mutation_p.V106M	NM_017638	NP_060108	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	106					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding				0		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		GCGAAACTGCGTGGACATTGC	0.562													A	28661170	G	A	28661170	3	1	84	1	0	0	0	0	1	0	0	0	9436	1145	40	1	322	1	MED18	1	28661170	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	783112	28661170	220589451	40	55583											
TMEM200B	399474	broad.mit.edu	37	chr1	29447582	29447582	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacttggaatgttcaatgcaGgagccagacggctgcacggt	14	9	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:29447582G>T	uc001brn.1	-	2	819	c.759C>A	c.(757-759)TCC>TCA	p.S253S		NM_001003682	NP_001003682	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	253						integral to membrane					0		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		GTTCAATGCAGGAGCCAGACG	0.657													T	29447582	G	T	29447582	2	4	84	1	0	0	0	0	0	0	0	1	16121	987	35	5		5	TMEM200B	1	29447582	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	786412	29447582	219803039	41	55584											
PUM1	9698	broad.mit.edu	37	chr1	31439015	31439020	+	In_Frame_Del	DEL	GCTGGG	GCTGGG	-													caggttgttattgggctgctGctggggctggggctgaggct							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:31439015_31439020delGCTGGG	uc001bsi.1	-	13	2008_2013	c.1895_1900delCCCAGC	c.(1894-1902)CCCCAGCAG>CAG	p.PQ632del	PUM1_uc001bsf.1_In_Frame_Del_p.PQ298del|PUM1_uc001bsg.1_In_Frame_Del_p.PQ445del|PUM1_uc001bsh.1_In_Frame_Del_p.PQ632del|PUM1_uc001bsj.1_In_Frame_Del_p.PQ606del|PUM1_uc010oga.1_In_Frame_Del_p.PQ488del|PUM1_uc001bsk.1_In_Frame_Del_p.PQ668del|PUM1_uc010ogb.1_In_Frame_Del_p.PQ573del	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	632_633					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TTgggctgctgctggggctggggctg	0.447													-	31439020	GCTGGG	-	31439015	7	5	84	1	0	1	0	1	0	0	0	0	12825	1328	46	0	1706	0	PUM1	1	31439015	In_Frame_Del	DEL	GCTGGG	TCGA-BR-8372-01A-11D-2340-08	1991433	31439015	217811606	42	55585											
PUM1	9698	broad.mit.edu	37	chr1	31465500	31465500	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagttctggcaattaccagGggtacggctaaacagagaaa	12	7	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:31465500G>T	uc001bsi.1	-	7	1008	c.895C>A	c.(895-897)CCT>ACT	p.P299T	PUM1_uc001bsf.1_5'UTR|PUM1_uc001bsg.1_Missense_Mutation_p.P111T|PUM1_uc001bsh.1_Missense_Mutation_p.P299T|PUM1_uc001bsj.1_Missense_Mutation_p.P299T|PUM1_uc010oga.1_Missense_Mutation_p.P203T|PUM1_uc001bsk.1_Missense_Mutation_p.P335T|PUM1_uc010ogb.1_Missense_Mutation_p.P239T	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	299					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CAATTACCAGGGGTACGGCTA	0.478													T	31465500	G	T	31465500	3	4	84	1	0	0	0	0	1	0	0	0	12825	1232	43	5	2735	5	PUM1	1	31465500	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	26485	31465500	217785121	43	55586											
TINAGL1	64129	broad.mit.edu	37	chr1	32049152	32049152	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatccgcccatcttcctcGgtcatgaacatgcatgaaat	6	14	2	2	rs143266156	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:32049152G>A	uc001bta.2	+	5	684	c.558G>A	c.(556-558)TCG>TCA	p.S186S	TINAGL1_uc001bsz.2_Silent_p.S41S|TINAGL1_uc010ogj.1_Silent_p.S155S|TINAGL1_uc010ogk.1_Silent_p.S186S	NM_022164	NP_071447	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	186					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity				0		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CATCTTCCTCGGTCATGAACA	0.587													A	32049152	G	A	32049152	2	1	84	1	0	0	0	0	0	0	0	1	15919	1103	39	1		1	TINAGL1	1	32049152	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	583652	32049152	217201469	44	55587											
LCK	3932	broad.mit.edu	37	chr1	32740967	32740967	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccctgaccacgggccaggaAggcttcatccccttcaattt	8	15	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:32740967A>T	uc001bux.2	+	5	462	c.324A>T	c.(322-324)GAA>GAT	p.E108D	LCK_uc001buy.2_Missense_Mutation_p.E108D|LCK_uc001buz.2_Missense_Mutation_p.E108D|LCK_uc010ohc.1_Missense_Mutation_p.E152D|LCK_uc001bva.2_Missense_Mutation_p.E166D	NM_005356	NP_005347	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	108	SH3.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			lung(3)|central_nervous_system(2)|ovary(1)	6		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CGGGCCAGGAAGGCTTCATCC	0.642			T	TRB@	T-ALL								T	32740967	A	T	32740967	3	4	84	1	0	0	0	0	1	0	0	0	8676	69	3	5	338	5	LCK	1	32740967	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	691815	32740967	216509654	45	55588											
RBBP4	5928	broad.mit.edu	37	chr1	33133933	33133933	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccccagaacccttgtatcAtcgcaacaaagactccttcc	5	16	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:33133933A>G	uc001bvr.2	+	4	577	c.418A>G	c.(418-420)ATC>GTC	p.I140V	RBBP4_uc001bvs.2_Missense_Mutation_p.I139V|RBBP4_uc010ohj.1_Intron|RBBP4_uc010ohk.1_Missense_Mutation_p.I105V	NM_005610	NP_005601	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4 isoform a	140	WD 1.				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCCTTGTATCATCGCAACAAA	0.378													G	33133933	A	G	33133933	3	3	84	1	0	0	0	0	1	0	0	0	13101	217	8	3	432	3	RBBP4	1	33133933	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	392966	33133933	216116688	46	55589											
YARS	8565	broad.mit.edu	37	chr1	33272165	33272165	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccagccttcttggaatcgTgctgtgtgaccacggaggag	13	11	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:33272165T>C	uc001bvy.1	-	4	1216	c.428A>G	c.(427-429)CAC>CGC	p.H143R		NM_003680	NP_003671	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	143				H -> R (in Ref. 4; BAD97328).	apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CTTGGAATCGTGCTGTGTGAC	0.542													C	33272165	T	C	33272165	3	2	84	1	0	0	0	0	1	0	0	0	17464	1696	59	3	1198	3	YARS	1	33272165	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	138232	33272165	215978456	47	55590											
MAP7D1	55700	broad.mit.edu	37	chr1	36641819	36641819	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcgcagcctgcagctgagCgcatgggagagcagcatcgt	15	11	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:36641819C>T	uc001bzz.2	+	7	1086	c.870C>T	c.(868-870)AGC>AGT	p.S290S	MAP7D1_uc001caa.2_Silent_p.S290S|MAP7D1_uc001cab.2_Silent_p.S253S|MAP7D1_uc001cac.2_5'UTR|MAP7D1_uc001cad.2_5'Flank	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	290						cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)				TGCAGCTGAGCGCATGGGAGA	0.672													T	36641819	C	T	36641819	2	4	84	1	0	0	0	0	0	0	0	1	9267	767	27	1		1	MAP7D1	1	36641819	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	3369654	36641819	212608802	48	55591											
C1orf113	79729	broad.mit.edu	37	chr1	36785312	36785312	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcccggtaaaggccccctctGtgaagagaacccccatgccg	11	16	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:36785312G>C	uc010oia.1	+	14	1076	c.1048G>C	c.(1048-1050)GTG>CTG	p.V350L	C1orf113_uc010oib.1_Missense_Mutation_p.V239L|C1orf113_uc010oic.1_RNA|C1orf113_uc009vuz.1_5'UTR	NM_001162530	NP_001156002	A4FU49	SH321_HUMAN	SH3 domain-containing protein C1orf113 isoform	234											0		Myeloproliferative disorder(586;0.0393)				GGCCCCCTCTGTGAAGAGAAC	0.617													C	36785312	G	C	36785312	3	2	84	1	0	0	0	0	1	0	0	0	1986	1377	48	5	1102	5	C1orf113	1	36785312	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	143493	36785312	212465309	49	55592											
SF3A3	10946	broad.mit.edu	37	chr1	38423870	38423870	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgaacactagagcagtccTtgtcttttcagatcctcgta	7	12	2	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:38423870T>G	uc001cci.2	-	17	1618	c.1494A>C	c.(1492-1494)CAA>CAC	p.Q498H	SF3A3_uc010oik.1_Missense_Mutation_p.Q445H	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3	498					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGAGCAGTCCTTGTCTTTTCA	0.433													G	38423870	T	G	38423870	3	3	84	1	0	0	0	0	1	0	0	0	14148	1606	56	5	15	5	SF3A3	1	38423870	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1638558	38423870	210826751	50	55593											
MACF1	23499	broad.mit.edu	37	chr1	39800373	39800373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaaaaagactgacattgGcatcagctttggaagagaaa	11	6	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:39800373G>A	uc010oiu.1	+	1	3564	c.3433G>A	c.(3433-3435)GCA>ACA	p.A1145T	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	2710	Plectin 11.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACTGACATTGGCATCAGCTTT	0.403													A	39800373	G	A	39800373	3	1	84	1	0	0	0	0	1	0	0	0	9144	1203	42	2	8204	2	MACF1	1	39800373	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1376503	39800373	209450248	51	55594											
KCNQ4	9132	broad.mit.edu	37	chr1	41285564	41285564	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagattacattgacaaccatCggctatggtgacaagacacc	8	11	0	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:41285564C>T	uc001cgh.1	+	6	934	c.852C>T	c.(850-852)ATC>ATT	p.I284I	KCNQ4_uc001cgi.1_Silent_p.I284I	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	potassium voltage-gated channel KQT-like protein	284	Selectivity filter (By similarity).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TGACAACCATCGGCTATGGTG	0.582													T	41285564	C	T	41285564	2	4	84	1	0	0	0	0	0	0	0	1	8085	874	31	1		1	KCNQ4	1	41285564	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1485191	41285564	207965057	52	55595											
RIMKLA	284716	broad.mit.edu	37	chr1	42870241	42870241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccctgggctacccagtcGtggtgaagagcacacgaggc	14	13	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:42870241G>A	uc001chi.2	+	3	592	c.454G>A	c.(454-456)GTG>ATG	p.V152M		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family	152	ATP-grasp.|ATP (By similarity).				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						CTACCCAGTCGTGGTGAAGAG	0.547													A	42870241	G	A	42870241	3	1	84	1	0	0	0	0	1	0	0	0	13365	1145	40	1	464	1	RIMKLA	1	42870241	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1584677	42870241	206380380	53	55596											
RIMKLA	284716	broad.mit.edu	37	chr1	42880340	42880340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggcatgcaacttagatGtgggtgggatcattgcagac	13	8	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:42880340G>A	uc001chi.2	+	5	1009	c.871G>A	c.(871-873)GTG>ATG	p.V291M		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family	291	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						CAACTTAGATGTGGGTGGGAT	0.498													A	42880340	G	A	42880340	3	1	84	1	0	0	0	0	1	0	0	0	13365	1377	48	4	889	4	RIMKLA	1	42880340	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	10099	42880340	206370281	54	55597											
RNF220	55182	broad.mit.edu	37	chr1	45079871	45079871	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcattgttcgacagccaGgccccaatttgccccatctg	10	15	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:45079871G>A	uc001clv.1	+	3	1020	c.660G>A	c.(658-660)CAG>CAA	p.Q220Q	RNF220_uc001clw.1_Silent_p.Q220Q|RNF220_uc010okx.1_5'UTR|RNF220_uc010oky.1_5'UTR	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	220					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TCGACAGCCAGGCCCCAATTT	0.592													A	45079871	G	A	45079871	2	1	84	1	0	0	0	0	0	0	0	1	13483	991	35	4		4	RNF220	1	45079871	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	2199531	45079871	204170750	55	55598											
ZSWIM5	57643	broad.mit.edu	37	chr1	45553711	45553711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtttcggagataggaagaCgcaatttgacttggtctggt	15	5	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:45553711C>T	uc001cnd.2	-	2	1022	c.794G>A	c.(793-795)CGT>CAT	p.R265H		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	265							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					GATAGGAAGACGCAATTTGAC	0.443													T	45553711	C	T	45553711	3	4	84	1	0	0	0	0	1	0	0	0	18241	536	19	1	2815	1	ZSWIM5	1	45553711	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	473840	45553711	203696910	56	55599											
NASP	4678	broad.mit.edu	37	chr1	46068012	46068012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattccagcagctgtcaatGcattccaggaagcagctagt	9	10	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:46068012G>A	uc001coi.1	+	3	295	c.193G>A	c.(193-195)GCA>ACA	p.A65T	NASP_uc010olq.1_Intron|NASP_uc001coh.1_Missense_Mutation_p.A67T|NASP_uc001coj.1_Missense_Mutation_p.A65T|NASP_uc010olr.1_Intron|NASP_uc001cok.1_5'UTR	NM_002482	NP_002473	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein isoform 2	65	TPR 1.				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGCTGTCAATGCATTCCAGGA	0.343													A	46068012	G	A	46068012	3	1	84	1	0	0	0	0	1	0	0	0	10172	1319	46	2	280	2	NASP	1	46068012	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	514301	46068012	203182609	57	55600											
NASP	4678	broad.mit.edu	37	chr1	46073055	46073055	+	Frame_Shift_Del	DEL	A	A	-													tgggagaaaaagaagaagccAaaaaaacagaagacaagtct							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:46073054_46073054CA>C	uc001coi.2	+	5	630	c.471_471CA>C	c.(469-471)gccfs	p.A157fs	NASP_uc010olq.2_Frame_Shift_Del_p.A120fs|NASP_uc021omz.1_Frame_Shift_Del_p.A159fs|NASP_uc001coj.2_Intron|NASP_uc010olr.2_Frame_Shift_Del_p.A93fs|NASP_uc001cok.2_Frame_Shift_Del_p.A40fs	NM_002482	NP_002473	P49321	NASP_HUMAN	Homo sapiens nuclear autoantigenic sperm protein (histone-binding) (NASP), transcript variant 2, mRNA.	157	Glu-rich (acidic).				DNA replication|blastocyst development|cell cycle|cell proliferation|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AAGAAGAAGCCAAAAAAACAG	0.393													-	46073055	A	-	46073055	7	5	84	1	0	1	0	1	0	0	0	0	10172	131	5	0	571	0	NASP	1	46073055	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	5043	46073055	203177566	58	55601											
FOXD2	2306	broad.mit.edu	37	chr1	47904205	47904205	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagccgccctactcgtacaTcgcgctcatcaccatggcca	8	17	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:47904205T>C	uc001crm.2	+	1	2517	c.398T>C	c.(397-399)ATC>ACC	p.I133T		NM_004474	NP_004465	O60548	FOXD2_HUMAN	forkhead box D2	133	Fork-head.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0				READ - Rectum adenocarcinoma(2;0.0908)		TACTCGTACATCGCGCTCATC	0.438													C	47904205	T	C	47904205	3	2	84	1	0	0	0	0	1	0	0	0	5997	1435	50	3	400	3	FOXD2	1	47904205	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1831150	47904205	201346416	59	55602											
NRD1	4898	broad.mit.edu	37	chr1	52301819	52301819	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttactgtgctccaaaaagtgTgccagccccggcaggtcatc	10	13	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:52301819T>C	uc001ctc.3	-	5	1222	c.900A>G	c.(898-900)GCA>GCG	p.A300A	NRD1_uc009vzb.2_5'UTR|NRD1_uc001ctd.3_Silent_p.A232A|NRD1_uc001cte.2_Silent_p.A168A|NRD1_uc001ctf.2_Silent_p.A232A|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Silent_p.A100A	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	231					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						CCAAAAAGTGTGCCAGCCCCG	0.423													C	52301819	T	C	52301819	2	2	84	1	0	0	0	0	0	0	0	1	10645	1683	59	3		3	NRD1	1	52301819	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	4397614	52301819	196948802	60	55603											
CC2D1B	200014	broad.mit.edu	37	chr1	52821976	52821976	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcaagcttctcaaatcTgacagggatgggtatgtcag	12	8	3	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:52821976T>C	uc001ctq.1	-	18	2094	c.1956_splice	c.e18-1	p.R652_splice	CC2D1B_uc001ctr.2_Splice_Site_p.R192_splice|CC2D1B_uc001cts.2_Splice_Site_p.R337_splice	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B											ovary(2)	2						TTCTCAAATCTGACAGGGATG	0.582													C	52821976	T	C	52821976	5	2	84	1	0	0	0	0	0	0	1	0	2727	1594	55	3	650	3	CC2D1B	1	52821976	Splice_Site	SNP	T	TCGA-BR-8372-01A-11D-2340-08	520157	52821976	196428645	61	55604											
ZCCHC11	23318	broad.mit.edu	37	chr1	52947291	52947292	+	Frame_Shift_Ins	INS	-	-	G													aaagtcatccattctttttgINSggtcaaagccttcaatctat							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:52947290_52947291T>TG	uc001cty.2	-	10	1905_1906	c.1652_1653A>CA	c.(1651-1653)ccafs	p.P551fs	ZCCHC11_uc001ctx.2_Frame_Shift_Ins_p.P551fs|ZCCHC11_uc009vze.1_Frame_Shift_Ins_p.P551fs|ZCCHC11_uc009vzf.1_Frame_Shift_Ins_p.P310fs|ZCCHC11_uc001cub.3_Frame_Shift_Ins_p.P551fs|ZCCHC11_uc001cuc.2_Non-coding_Transcript	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	551					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CCATTCTTTTTGGGTCAAAGCC	0.332													G	52947292	-	G	52947291	7	5	84	1	0	1	1	0	0	0	0	0	17577	1348	47	0	3365	0	ZCCHC11	1	52947291	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	125315	52947291	196303330	62	55605											
DAB1	1600	broad.mit.edu	37	chr1	57535092	57535092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtgtccagcctcaaacaCaatgtactattacaggagca	7	12	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:57535092C>T	uc001cys.1	-	10	1278	c.604G>A	c.(604-606)GTG>ATG	p.V202M	DAB1_uc001cyt.1_Missense_Mutation_p.V202M|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc009vzx.1_Missense_Mutation_p.V202M	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	202					cell differentiation|nervous system development					skin(2)|ovary(1)	3						GCCTCAAACACAATGTACTAT	0.413													T	57535092	C	T	57535092	3	4	84	1	0	0	0	0	1	0	0	0	4217	478	17	4	1091	4	DAB1	1	57535092	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	4587801	57535092	191715529	63	55606											
DOCK7	85440	broad.mit.edu	37	chr1	63113432	63113432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatatcaggaacactaagccGttctattggttcttcctaca	6	10	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:63113432G>A	uc001daq.2	-	7	782	c.748C>T	c.(748-750)CGG>TGG	p.R250W	DOCK7_uc001dan.2_Missense_Mutation_p.R142W|DOCK7_uc001dao.2_Missense_Mutation_p.R142W|DOCK7_uc001dap.2_Missense_Mutation_p.R250W|DOCK7_uc009wah.1_Missense_Mutation_p.R250W	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	250					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						ACACTAAGCCGTTCTATTGGT	0.303													A	63113432	G	A	63113432	3	1	84	1	0	0	0	0	1	0	0	0	4692	1144	40	1	5753	1	DOCK7	1	63113432	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	5578340	63113432	186137189	64	55607											
ANKRD13C	81573	broad.mit.edu	37	chr1	70766480	70766480	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctgataaactttttgttcAttgtctaatactacaaaaga	5	7	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:70766480A>G	uc001dex.3	-	7	1214	c.888T>C	c.(886-888)AAT>AAC	p.N296N	ANKRD13C_uc009wbk.2_Silent_p.N261N	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	296					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding				0						CTTTTTGTTCATTGTCTAATA	0.358													G	70766480	A	G	70766480	2	3	84	1	0	0	0	0	0	0	0	1	643	214	8	3		3	ANKRD13C	1	70766480	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	7653048	70766480	178484141	65	55608											
FAM73A	374986	broad.mit.edu	37	chr1	78249019	78249019	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcttcctctgacttggTactattctctctcccaggta	6	12	4	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:78249019T>C	uc001dhx.2	+	2	210	c.178T>C	c.(178-180)TAC>CAC	p.Y60H	FAM73A_uc010ork.1_Missense_Mutation_p.Y60H|FAM73A_uc010orl.1_Intron	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	hypothetical protein LOC374986	60						integral to membrane				ovary(1)	1				Colorectal(170;0.226)		TCTGACTTGGTACTATTCTCT	0.358													C	78249019	T	C	78249019	3	2	84	1	0	0	0	0	1	0	0	0	5617	1638	57	3	184	3	FAM73A	1	78249019	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	7482539	78249019	171001602	66	55609											
LPHN2	23266	broad.mit.edu	37	chr1	82415943	82415943	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataatatcaaccacaagcacTacttcacagaaaggccccat	4	13	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:82415943T>C	uc001dit.3	+	7	1450	c.1269T>C	c.(1267-1269)ACT>ACC	p.T423T	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Silent_p.T423T|LPHN2_uc001div.2_Silent_p.T423T|LPHN2_uc009wcd.2_Silent_p.T423T|LPHN2_uc001diw.2_5'UTR	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	423	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CCACAAGCACTACTTCACAGA	0.428													C	82415943	T	C	82415943	2	2	84	1	0	0	0	0	0	0	0	1	8916	1509	53	3		3	LPHN2	1	82415943	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	4166924	82415943	166834678	67	55610											
LRRC8C	84230	broad.mit.edu	37	chr1	90178382	90178382	+	Frame_Shift_Del	DEL	A	A	-													ccactccactgcctccacctAaaccatctcctgctaacccc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:90178381_90178381TA>T	uc001dnl.4	+	2	494	c.252_252TA>T	c.(250-252)cctfs	p.P84fs		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	84						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGCCTCCACCTAAACCATCTC	0.473													-	90178382	A	-	90178382	7	5	84	1	0	1	0	1	0	0	0	0	9023	363	13	0	259	0	LRRC8C	1	90178382	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	7762439	90178382	159072239	68	55611											
LRRC8C	84230	broad.mit.edu	37	chr1	90179605	90179605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctttcctgaaggaaaaCctcaaggtcttgagcgtcaa	8	11	4	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:90179605C>T	uc001dnl.3	+	3	1718	c.1476C>T	c.(1474-1476)AAC>AAT	p.N492N		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member	492	LRR 5.					endoplasmic reticulum membrane|integral to membrane				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGAAGGAAAACCTCAAGGTCT	0.502													T	90179605	C	T	90179605	2	4	84	1	0	0	0	0	0	0	0	1	9023	506	18	4		4	LRRC8C	1	90179605	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1223	90179605	159071016	69	55612											
GFI1	2672	broad.mit.edu	37	chr1	92948991	92948991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtctggtcctggggagcgCggctggtggtagctgtgagc	19	8	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:92948991C>T	uc001dou.3	-	2	218	c.54G>A	c.(52-54)CCG>CCA	p.P18P	GFI1_uc001dov.3_Silent_p.P18P|GFI1_uc001dow.3_Silent_p.P18P	NM_001127215	NP_001120687	Q99684	GFI1_HUMAN	growth factor independent 1	18					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(1)	1		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		CTGGGGAGCGCGGCTGGTGGT	0.667													T	92948991	C	T	92948991	2	4	84	1	0	0	0	0	0	0	0	1	6339	755	27	1		1	GFI1	1	92948991	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2769386	92948991	156301630	70	55613											
HIAT1	64645	broad.mit.edu	37	chr1	100546165	100546165	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacttaaagaactgccaataAcaggaacagacttgggaaca	8	8	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:100546165A>G	uc001dst.2	+	11	1216	c.1216A>G	c.(1216-1218)ACA>GCA	p.T406A		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	406	Cytoplasmic (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity				0		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ACTGCCAATAACAGGAACAGA	0.398													G	100546165	A	G	100546165	3	3	84	1	0	0	0	0	1	0	0	0	7097	43	2	3	1258	3	HIAT1	1	100546165	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	7597174	100546165	148704456	71	55614											
COL11A1	1301	broad.mit.edu	37	chr1	103345424	103345424	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcagaagtttcaggaatgTcatttgcaccatattgatgg	10	6	3	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:103345424T>C	uc001dul.2	-	66	5407	c.5089A>G	c.(5089-5091)ACA>GCA	p.T1697A	COL11A1_uc001duk.2_Missense_Mutation_p.T893A|COL11A1_uc001dum.2_Missense_Mutation_p.T1709A|COL11A1_uc001dun.2_Missense_Mutation_p.T1658A|COL11A1_uc009weh.2_Missense_Mutation_p.T1581A	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1697	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTCAGGAATGTCATTTGCACC	0.393													C	103345424	T	C	103345424	3	2	84	1	0	0	0	0	1	0	0	0	3667	1667	58	3	339	3	COL11A1	1	103345424	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	2799259	103345424	145905197	72	55615											
VAV3	10451	broad.mit.edu	37	chr1	108116789	108116789	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcacagaagtcataccgagcGatggcaatgcccagcacttt	10	12	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:108116789G>A	uc001dvk.1	-	26	2436	c.2382C>T	c.(2380-2382)ATC>ATT	p.I794I	VAV3_uc010ouu.1_Silent_p.I226I|VAV3_uc001dvj.1_Silent_p.I234I|VAV3_uc010ouv.1_Silent_p.I198I|VAV3_uc010ouw.1_Silent_p.I822I	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	794	SH3 2.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CATACCGAGCGATGGCAATGC	0.423													A	108116789	G	A	108116789	2	1	84	1	0	0	0	0	0	0	0	1	17130	1048	37	1		1	VAV3	1	108116789	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	4771365	108116789	141133832	73	55616											
GPSM2	29899	broad.mit.edu	37	chr1	109440708	109440708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagatgctctgcaggcagCcgtggatttttatgagtgag	15	6	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:109440708C>T	uc010ovc.1	+	5	1038	c.542C>T	c.(541-543)GCC>GTC	p.A181V	AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Missense_Mutation_p.A181V|GPSM2_uc010ove.1_Missense_Mutation_p.A181V	NM_013296	NP_037428	P81274	GPSM2_HUMAN	LGN protein	181	TPR 4.				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CTGCAGGCAGCCGTGGATTTT	0.468													T	109440708	C	T	109440708	3	4	84	1	0	0	0	0	1	0	0	0	6735	739	26	2	556	2	GPSM2	1	109440708	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1323919	109440708	139809913	74	55617											
CELSR2	1952	broad.mit.edu	37	chr1	109793562	109793562	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaccaatgaccatgacccTgtgttcgagcagcaggagta	11	11	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:109793562T>C	uc001dxa.3	+	1	922	c.861T>C	c.(859-861)CCT>CCC	p.P287P		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	287	Cadherin 1.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ACCATGACCCTGTGTTCGAGC	0.602													C	109793562	T	C	109793562	2	2	84	1	0	0	0	0	0	0	0	1	3222	1567	55	3		3	CELSR2	1	109793562	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	352854	109793562	139457059	75	55618											
GSTM5	2949	broad.mit.edu	37	chr1	110257571	110257571	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agctgttttctgcctcaggaGaaactgaagccaaaatactt	8	9	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:110257571G>T	uc001dyn.2	+	6	434	c.363G>T	c.(361-363)GAG>GAT	p.E121D	GSTM5_uc010ovu.1_Missense_Mutation_p.E80D	NM_000851	NP_000842	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	121	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			central_nervous_system(6)	6		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TGCCTCAGGAGAAACTGAAGC	0.542													T	110257571	G	T	110257571	3	4	84	1	0	0	0	0	1	0	0	0	6841	933	33	5	385	5	GSTM5	1	110257571	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	464009	110257571	138993050	76	55619											
KCNA3	3738	broad.mit.edu	37	chr1	111217183	111217183	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcggctcgtagcggtcGcagccgccgccgccacagcc	15	18	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:111217183G>A	uc001dzv.1	-	1	473	c.249C>T	c.(247-249)TGC>TGT	p.C83C		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	83						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGTAGCGGTCGCAGCCGCCGC	0.746													A	111217183	G	A	111217183	2	1	84	1	0	0	0	0	0	0	0	1	8004	1079	38	1		1	KCNA3	1	111217183	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	959612	111217183	138033438	77	55620											
AP4B1	10717	broad.mit.edu	37	chr1	114442703	114442703	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaactttttgtagtggcTgctaaagtgacctggtaaac	9	6	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:114442703T>C	uc001eeb.2	-	5	1080	c.937A>G	c.(937-939)AGC>GGC	p.S313G	uc001edv.1_RNA|AP4B1_uc001eec.2_Missense_Mutation_p.S145G|AP4B1_uc001eed.2_Missense_Mutation_p.S313G|AP4B1_uc010owp.1_Missense_Mutation_p.S214G|AP4B1_uc001eea.1_Missense_Mutation_p.S107G|AP4B1_uc001eee.1_5'Flank|AP4B1_uc010owq.1_Missense_Mutation_p.S220G	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1	313					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			ovary(3)|central_nervous_system(1)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGTAGTGGCTGCTAAAGTGA	0.463													C	114442703	T	C	114442703	3	2	84	1	0	0	0	0	1	0	0	0	751	1580	55	3	1306	3	AP4B1	1	114442703	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	3225520	114442703	134807918	78	55621											
TTF2	8458	broad.mit.edu	37	chr1	117618443	117618443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccctcagacccagtagccCggcgtgtctaccttacaaca	7	16	2	1	rs148191511		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:117618443C>T	uc001egy.2	+	5	1257	c.1237C>T	c.(1237-1239)CGG>TGG	p.R413W	TTF2_uc001egx.1_Missense_Mutation_p.R413W	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	413					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CCCAGTAGCCCGGCGTGTCTA	0.463													T	117618443	C	T	117618443	3	4	84	1	0	0	0	0	1	0	0	0	16716	643	23	1	1255	1	TTF2	1	117618443	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	3175740	117618443	131632178	79	55622											
HIST2H2BF	440689	broad.mit.edu	37	chr1	149399184	149399184	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgctggatccggcatttttGcgcgaaaaaagagaacagag	12	8	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:149399184G>T	uc010pbi.1	-	1		c.46C>A						Q5QNW6	H2B2F_HUMAN	Homo sapiens histone cluster 2, H3, pseudogene 2, mRNA (cDNA clone IMAGE:5190019).						nucleosome assembly	nucleosome|nucleus	DNA binding				0	Breast(34;0.0124)|all_hematologic(923;0.127)					CGGCATTTTTGCGCGAAAAAA	0.498													T	149399184	G	T	149399184	1	4	84	0	1	0	0	0	0	0	0	0	7180	1334	46	5		5	HIST2H2BF	1	149399184	RNA	SNP	G	TCGA-BR-8372-01A-11D-2340-08	31780741	149399184	99851437	80	55623											
CA14	23632	broad.mit.edu	37	chr1	150233969	150233969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgaccctgatttgcctgCtctgcagccccacggatatg	9	13	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:150233969C>T	uc001etx.2	+	3	497	c.188C>T	c.(187-189)GCT>GTT	p.A63V		NM_012113	NP_036245	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV precursor	63	Extracellular (Potential).					integral to membrane	carbonate dehydratase activity|metal ion binding			ovary(1)	1	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GATTTGCCTGCTCTGCAGCCC	0.547													T	150233969	C	T	150233969	3	4	84	1	0	0	0	0	1	0	0	0	2515	797	28	2	198	2	CA14	1	150233969	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	834785	150233969	99016652	81	55624											
ARNT	405	broad.mit.edu	37	chr1	150789283	150789283	+	Frame_Shift_Del	DEL	G	G	-													cctgaaattctctgccggccGgggggtaggagggaatgtgt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:150789282_150789282CG>C	uc001evr.2	-	17	1985	c.1784_1784CG>G	c.(1783-1785)cggfs	p.R595fs	ARNT_uc010pck.2_Frame_Shift_Del_p.R84fs|ARNT_uc001evs.2_Frame_Shift_Del_p.R580fs|ARNT_uc009wmd.2_Frame_Shift_Del_p.R580fs|ARNT_uc009wmb.2_Frame_Shift_Del_p.R581fs|ARNT_uc009wmc.2_Frame_Shift_Del_p.R595fs	NM_001668	NP_001659	P27540	ARNT_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.	595					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTCTGCCGGCCGGGGGGTAGG	0.522			T	ETV6	AML								-	150789283	G	-	150789283	7	5	84	1	0	1	0	1	0	0	0	0	965	1115	39	0	606	0	ARNT	1	150789283	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	555314	150789283	98461338	82	55625											
NPR1	4881	broad.mit.edu	37	chr1	153658344	153658344	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccaagtctttgccaagacAgcatattataaggtgggcct	9	9	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:153658344A>G	uc001fcs.3	+	9	2089	c.1668A>G	c.(1666-1668)ACA>ACG	p.T556T	NPR1_uc010pdz.1_Silent_p.T302T|NPR1_uc010pea.1_Silent_p.T60T	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	556	Cytoplasmic (Potential).|Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|stomach(1)|breast(1)	7	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TTGCCAAGACAGCATATTATA	0.572													G	153658344	A	G	153658344	2	3	84	1	0	0	0	0	0	0	0	1	10594	175	7	3		3	NPR1	1	153658344	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2869061	153658344	95592277	83	55626											
NPR1	4881	broad.mit.edu	37	chr1	153660166	153660166	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcaccccctgtgcggggcTcccaggctggtgacgtatac	12	15	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:153660166T>C	uc001fcs.3	+	14	2570	c.2149T>C	c.(2149-2151)TCC>CCC	p.S717P	NPR1_uc010pdz.1_Missense_Mutation_p.S463P|NPR1_uc010pea.1_Missense_Mutation_p.S195P	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	717	Cytoplasmic (Potential).|Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|stomach(1)|breast(1)	7	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TGTGCGGGGCTCCCAGGCTGG	0.602													C	153660166	T	C	153660166	3	2	84	1	0	0	0	0	1	0	0	0	10594	1551	54	3	2203	3	NPR1	1	153660166	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1822	153660166	95590455	84	55627											
KCNN3	3782	broad.mit.edu	37	chr1	154841703	154841703	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgctggcggtggtgccGgcatgctggtggttgtgggt	21	7	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:154841703G>A	uc001ffp.2	-	1	1052	c.738C>T	c.(736-738)GCC>GCT	p.A246A	KCNN3_uc009wox.1_Silent_p.A246A	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	251						integral to membrane	calmodulin binding			lung(1)	1	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CGGTGGTGCCGGCATGCTGGT	0.582													A	154841703	G	A	154841703	2	1	84	1	0	0	0	0	0	0	0	1	8080	1103	39	1		1	KCNN3	1	154841703	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1181537	154841703	94408918	85	55628											
ASH1L	55870	broad.mit.edu	37	chr1	155308103	155308103	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgactggctagaacctcTtcaatcaagggtagagcatc	9	10	4	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:155308103T>C	uc009wqq.2	-	27	9075	c.8595A>G	c.(8593-8595)GAA>GAG	p.E2865E	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Silent_p.E2860E	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2865					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTAGAACCTCTTCAATCAAGG	0.517													C	155308103	T	C	155308103	2	2	84	1	0	0	0	0	0	0	0	1	1041	1606	56	3		3	ASH1L	1	155308103	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	466400	155308103	93942518	86	55629											
GON4L	54856	broad.mit.edu	37	chr1	155823172	155823172	+	Frame_Shift_Del	DEL	T	T	-													tggcccaggcctgagtgtcaTttttttccctctctttgagc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:155823171_155823171AT>A	uc001flz.2	-	1	498	c.401_401AT>T	c.(400-402)atgfs	p.M134fs	GON4L_uc001fly.1_Frame_Shift_Del_p.M134fs|GON4L_uc009wrh.1_Frame_Shift_Del_p.M134fs|GON4L_uc001fma.1_Frame_Shift_Del_p.M134fs|GON4L_uc001fmc.3_Frame_Shift_Del_p.M134fs|GON4L_uc001fmd.4_Frame_Shift_Del_p.M134fs|GON4L_uc009wri.3_5'UTR	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	134					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.K133K(1)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCTGAGTGTCATTTTTTTCCC	0.458													-	155823172	T	-	155823172	7	5	84	1	0	1	0	1	0	0	0	0	6572	1493	52	0	6563	0	GON4L	1	155823172	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	515069	155823172	93427449	87	55630											
C1orf85	112770	broad.mit.edu	37	chr1	156263285	156263285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcagggcagggctgattctCggccccccggcttctgggag	17	13	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:156263285C>T	uc001foh.2	-	5	894	c.881G>A	c.(880-882)CGA>CAA	p.R294Q	C1orf85_uc001fof.3_5'Flank|C1orf85_uc001fog.1_Intron|C1orf85_uc001foi.2_Intron|C1orf85_uc009wrx.2_Missense_Mutation_p.R227Q|C1orf85_uc001foj.2_Missense_Mutation_p.R208Q	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN	kidney predominant protein NCU-G1 precursor	294	Lumenal (Potential).				positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)	2	Hepatocellular(266;0.158)					GGCTGATTCTCGGCCCCCCGG	0.587													T	156263285	C	T	156263285	3	4	84	1	0	0	0	0	1	0	0	0	2062	884	31	1	347	1	C1orf85	1	156263285	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	440113	156263285	92987336	88	55631											
INSRR	3645	broad.mit.edu	37	chr1	156821914	156821914	+	Frame_Shift_Del	DEL	C	C	-													ggtcttctggctggctgcagCcccccaggcattcggtgtgg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:156821914delC	uc010pht.1	-	3	961	c.707delG	c.(706-708)GGCfs	p.G236fs	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Frame_Shift_Del_p.G236fs	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	236					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGGCTGCAGCCCCCCAGGCA	0.657													-	156821914	C	-	156821914	7	5	84	1	0	1	0	1	0	0	0	0	7774	739	26	0	3265	0	INSRR	1	156821914	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	558629	156821914	92428707	89	55632											
C1orf92	149499	broad.mit.edu	37	chr1	156899200	156899200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacccctaagggcctgggCaagaaaaaggagaaatcatg	11	8	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:156899200C>T	uc001fqm.2	+	10	1297	c.1125C>T	c.(1123-1125)GGC>GGT	p.G375G	C1orf92_uc001fql.2_Silent_p.G160G	NM_144702	NP_653303	Q8N4P6	LRC71_HUMAN	hypothetical protein LOC149499	375											0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGGCCTGGGCAAGAAAAAGG	0.532													T	156899200	C	T	156899200	2	4	84	1	0	0	0	0	0	0	0	1	2069	697	25	2		2	C1orf92	1	156899200	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	77286	156899200	92351421	90	55633											
ARHGEF11	9826	broad.mit.edu	37	chr1	156915929	156915929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctctcagctgcagccgcCgacactgagggtggctctca	13	14	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:156915929C>T	uc001fqo.2	-	28	3640	c.2600G>A	c.(2599-2601)CGG>CAG	p.R867Q	ARHGEF11_uc010phu.1_Missense_Mutation_p.R283Q|ARHGEF11_uc001fqn.2_Missense_Mutation_p.R907Q	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	867	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGCAGCCGCCGACACTGAGG	0.597													T	156915929	C	T	156915929	3	4	84	1	0	0	0	0	1	0	0	0	896	652	23	1	2020	1	ARHGEF11	1	156915929	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	16729	156915929	92334692	91	55634											
CD1A	909	broad.mit.edu	37	chr1	158225951	158225951	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggaatatggccaagcatttCtgcaaagtgctcaatcagaa	10	8	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:158225951C>A	uc001frt.2	+	3	1016	c.483C>A	c.(481-483)TTC>TTA	p.F161L		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	161	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CCAAGCATTTCTGCAAAGTGC	0.438													A	158225951	C	A	158225951	3	1	84	1	0	0	0	0	1	0	0	0	2974	912	32	5	493	5	CD1A	1	158225951	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1310022	158225951	91024670	92	55635											
OR10K1	391109	broad.mit.edu	37	chr1	158435710	158435710	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgctggcagccatgggctAtgatcgctatatggccatct	11	12	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:158435710A>T	uc010pij.1	+	1	359	c.359A>T	c.(358-360)TAT>TTT	p.Y120F		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K,	120	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					GCCATGGGCTATGATCGCTAT	0.532													T	158435710	A	T	158435710	3	4	84	1	0	0	0	0	1	0	0	0	10913	449	16	5	361	5	OR10K1	1	158435710	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	209759	158435710	90814911	93	55636											
SPTA1	6708	broad.mit.edu	37	chr1	158644339	158644339	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttctctaccttatgctgCtgatgcctgtccagcagaac	7	13	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:158644339C>T	uc001fst.1	-	9	1438	c.1239G>A	c.(1237-1239)CAG>CAA	p.Q413Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	413	Spectrin 5.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CCTTATGCTGCTGATGCCTGT	0.512													T	158644339	C	T	158644339	2	4	84	1	0	0	0	0	0	0	0	1	15115	796	28	2		2	SPTA1	1	158644339	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	208629	158644339	90606282	94	55637											
PYHIN1	149628	broad.mit.edu	37	chr1	158908285	158908285	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacacctgcatgcaccccaAgcaaccgtctcacagctaaa	5	17	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:158908285A>C	uc001ftb.2	+	3	609	c.364A>C	c.(364-366)AGC>CGC	p.S122R	PYHIN1_uc001fta.3_Missense_Mutation_p.S122R|PYHIN1_uc001ftc.2_Missense_Mutation_p.S113R|PYHIN1_uc001ftd.2_Missense_Mutation_p.S122R|PYHIN1_uc001fte.2_Missense_Mutation_p.S113R	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	122					cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)					ATGCACCCCAAGCAACCGTCT	0.463													C	158908285	A	C	158908285	3	2	84	1	0	0	0	0	1	0	0	0	12865	72	3	5	370	5	PYHIN1	1	158908285	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	263946	158908285	90342336	95	55638											
NCSTN	23385	broad.mit.edu	37	chr1	160325747	160325747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcaggctgatccccaaaCggtaagcagatgggccctag	12	11	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:160325747C>T	uc001fvx.2	+	13	1674	c.1550C>T	c.(1549-1551)ACG>ATG	p.T517M	NCSTN_uc001fvy.2_Missense_Mutation_p.T497M|NCSTN_uc010pjf.1_Missense_Mutation_p.T379M|NCSTN_uc001fvz.2_Missense_Mutation_p.T297M|NCSTN_uc010pjg.1_Missense_Mutation_p.T259M	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	517	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GATCCCCAAACGGTAAGCAGA	0.547													T	160325747	C	T	160325747	3	4	84	1	0	0	0	0	1	0	0	0	10241	550	19	1	1600	1	NCSTN	1	160325747	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1417462	160325747	88924874	96	55639											
USP21	27005	broad.mit.edu	37	chr1	161133984	161133984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggggcaaggtgtctctgCgggattgtttcaaccttttc	13	9	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:161133984C>T	uc010pke.1	+	10	1626	c.1249C>T	c.(1249-1251)CGG>TGG	p.R417W	USP21_uc010pkc.1_Missense_Mutation_p.R417W|USP21_uc010pkd.1_Missense_Mutation_p.R417W|USP21_uc010pkf.1_Missense_Mutation_p.R417W|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyn.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc001fyl.2_5'Flank|PPOX_uc001fym.2_5'Flank|PPOX_uc001fyk.2_5'Flank|PPOX_uc001fyh.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc009wuc.1_5'Flank|PPOX_uc010pkh.1_5'Flank|PPOX_uc001fyi.2_5'Flank	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21	417					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)|prostate(1)|breast(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGTGTCTCTGCGGGATTGTTT	0.478													T	161133984	C	T	161133984	3	4	84	1	0	0	0	0	1	0	0	0	17050	759	27	1	1279	1	USP21	1	161133984	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	808237	161133984	88116637	97	55640											
FCRLB	127943	broad.mit.edu	37	chr1	161697204	161697204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcagttcccggcgagcGgcgccccgactgcggggcca	17	16	0	0	rs145348831		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:161697204G>A	uc001gbh.2	+	8	1267	c.1033G>A	c.(1033-1035)GGC>AGC	p.G345S	FCRLB_uc009wus.2_Missense_Mutation_p.G345S|FCRLB_uc001gbj.2_Silent_p.A296A|FCRLB_uc001gbk.2_3'UTR|FCRLB_uc001gbl.2_Silent_p.A289A|FCRLB_uc001gbm.2_3'UTR|FCRLB_uc001gbi.2_Missense_Mutation_p.G345S|FCRLB_uc001gbn.3_3'UTR	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	345						endoplasmic reticulum					0	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CCCGGCGAGCGGCGCCCCGAC	0.677													A	161697204	G	A	161697204	3	1	84	1	0	0	0	0	1	0	0	0	5801	1116	39	1	1055	1	FCRLB	1	161697204	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	563220	161697204	87553417	98	55641											
POGK	57645	broad.mit.edu	37	chr1	166818871	166818871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctggctctgcgcagggCgcatgactatgaggtagctc	14	11	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:166818871C>T	uc001gdt.1	+	5	1175	c.1055C>T	c.(1054-1056)GCG>GTG	p.A352V	POGK_uc010ple.1_Missense_Mutation_p.A267V|POGK_uc010plf.1_Missense_Mutation_p.A234V	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	352					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						CTGCGCAGGGCGCATGACTAT	0.557													T	166818871	C	T	166818871	3	4	84	1	0	0	0	0	1	0	0	0	12185	768	27	1	1069	1	POGK	1	166818871	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	5121667	166818871	82431750	99	55642											
SELP	6403	broad.mit.edu	37	chr1	169586331	169586331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacttgccaggggctgacGgactcttgatgtatatctcc	10	12	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:169586331G>A	uc001ggi.3	-	3	481	c.416C>T	c.(415-417)CCG>CTG	p.P139L	SELP_uc001ggh.2_5'UTR|SELP_uc009wvr.2_Missense_Mutation_p.P139L	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	139	Extracellular (Potential).|C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	AGGGGCTGACGGACTCTTGAT	0.463													A	169586331	G	A	169586331	3	1	84	1	0	0	0	0	1	0	0	0	14019	1116	39	1	2132	1	SELP	1	169586331	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	2767460	169586331	79664290	100	55643											
FMO4	2329	broad.mit.edu	37	chr1	171293332	171293332	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccgaaactggtcagtgggAtgttgtcacagagacagagg	14	8	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:171293332A>G	uc001gho.2	+	5	594	c.377A>G	c.(376-378)GAT>GGT	p.D126G		NM_002022	NP_002013	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	126					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			kidney(2)|skin(1)	3	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGTCAGTGGGATGTTGTCACA	0.463													G	171293332	A	G	171293332	3	3	84	1	0	0	0	0	1	0	0	0	5957	333	12	3	387	3	FMO4	1	171293332	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1707001	171293332	77957289	101	55644											
C1orf9	51430	broad.mit.edu	37	chr1	172522402	172522402	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgttgttgttatataggaTgaaagagagggacctatcaa	12	3	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:172522402T>C	uc001giq.3	+	3	496	c.180T>C	c.(178-180)GAT>GAC	p.D60D	C1orf9_uc010pmm.1_Silent_p.D60D|C1orf9_uc009wwd.2_Intron|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	60					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		TTATATAGGATGAAAGAGAGG	0.303													C	172522402	T	C	172522402	2	2	84	1	0	0	0	0	0	0	0	1	2067	1461	51	3		3	C1orf9	1	172522402	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1229070	172522402	76728219	102	55645											
ASTN1	460	broad.mit.edu	37	chr1	177133690	177133690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagggcagtgccgacacCgtgatgcttttgagcttgca	14	9	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:177133690C>T	uc001glc.2	-	1	335	c.123G>A	c.(121-123)ACG>ACA	p.T41T	ASTN1_uc001glb.1_Silent_p.T41T|ASTN1_uc001gld.1_Silent_p.T41T|ASTN1_uc009wwx.1_Silent_p.T41T	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	41					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						GTGCCGACACCGTGATGCTTT	0.677													T	177133690	C	T	177133690	2	4	84	1	0	0	0	0	0	0	0	1	1064	639	23	1		1	ASTN1	1	177133690	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	4611288	177133690	72116931	103	55646											
C1orf125	126859	broad.mit.edu	37	chr1	179363045	179363045	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtcatgcagagagaggTatgtgcaaatgcttgaccag	13	6	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:179363045T>C	uc001gmo.2	+	10	998	c.871T>C	c.(871-873)TAT>CAT	p.Y291H	C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Missense_Mutation_p.Y79H|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.Y291H	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	291											0						CAGAGAGAGGTATGTGCAAAT	0.259													C	179363045	T	C	179363045	3	2	84	1	0	0	0	0	1	0	0	0	1993	1638	57	3	905	3	C1orf125	1	179363045	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	2229355	179363045	69887576	104	55647											
TOR1AIP1	26092	broad.mit.edu	37	chr1	179887081	179887081	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctttgagtcatttcccgcaGgctctactttgatcttctac	7	12	4	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:179887081G>T	uc001gnq.2	+	10	1677	c.1459G>T	c.(1459-1461)GGC>TGC	p.G487C		NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	lamina-associated polypeptide 1B	487	Lumenal (Potential).					integral to membrane|nuclear inner membrane				breast(1)|central_nervous_system(1)	2						ATTTCCCGCAGGCTCTACTTT	0.448													T	179887081	G	T	179887081	3	4	84	1	0	0	0	0	1	0	0	0	16369	1000	35	5	1497	5	TOR1AIP1	1	179887081	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	524036	179887081	69363540	105	55648											
XPR1	9213	broad.mit.edu	37	chr1	180794334	180794334	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgggatattgtggtgcctgAgccttctggcatgcttcttt	12	9	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:180794334A>C	uc001goi.2	+	9	1180	c.988A>C	c.(988-990)AGC>CGC	p.S330R	XPR1_uc009wxm.2_Missense_Mutation_p.S330R|XPR1_uc009wxn.2_Missense_Mutation_p.S330R	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor	330	Helical; (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0						GTGGTGCCTGAGCCTTCTGGC	0.398													C	180794334	A	C	180794334	3	2	84	1	0	0	0	0	1	0	0	0	17448	304	11	5	1022	5	XPR1	1	180794334	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	907253	180794334	68456287	106	55649											
DHX9	1660	broad.mit.edu	37	chr1	182848383	182848383	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttatgcttattttctcttAgacttgaaacccacatgaca	4	9	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:182848383A>C	uc001gpr.2	+	21	2515	c.2352_splice	c.e21-2	p.R784_splice	DHX9_uc001gps.2_Splice_Site_p.R570_splice|DHX9_uc001gpt.2_Splice_Site_p.R63_splice|DHX9_uc009wyd.2_5'Flank	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9						CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2						ATTTTCTCTTAGACTTGAAAC	0.393													C	182848383	A	C	182848383	5	2	84	1	0	0	0	0	0	0	1	0	4516	434	15	5	2428	5	DHX9	1	182848383	Splice_Site	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2054049	182848383	66402238	107	55650											
C1orf26	54823	broad.mit.edu	37	chr1	185171822	185171822	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaacaaaggcctaataagTggtgtgaagtcactcagtaa	10	6	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:185171822T>C	uc001grg.3	+	11	1674	c.1560T>C	c.(1558-1560)AGT>AGC	p.S520S	C1orf26_uc001grh.3_Silent_p.S520S	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN	hypothetical protein LOC54823	520											0						GCCTAATAAGTGGTGTGAAGT	0.373													C	185171822	T	C	185171822	2	2	84	1	0	0	0	0	0	0	0	1	2035	1693	59	3		3	C1orf26	1	185171822	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	2323439	185171822	64078799	108	55651											
PRG4	10216	broad.mit.edu	37	chr1	186278205	186278205	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgtgttcatgcctgaagtTactcccgacatggattactt	8	10	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:186278205T>C	uc001gru.3	+	7	3405	c.3354T>C	c.(3352-3354)GTT>GTC	p.V1118V	PRG4_uc001grt.3_Silent_p.V1077V|PRG4_uc009wyl.2_Silent_p.V1025V|PRG4_uc009wym.2_Silent_p.V984V|PRG4_uc010poo.1_RNA	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	1118					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						TGCCTGAAGTTACTCCCGACA	0.418													C	186278205	T	C	186278205	2	2	84	1	0	0	0	0	0	0	0	1	12481	1741	61	3		3	PRG4	1	186278205	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1106383	186278205	62972416	109	55652											
KCNT2	343450	broad.mit.edu	37	chr1	196342340	196342340	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatatacagtttaaagctaAcatggcgtatttaaactctt	6	7	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:196342340A>G	uc001gtd.1	-	14	1393	c.1333T>C	c.(1333-1335)TTA>CTA	p.L445L	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.L445L|KCNT2_uc001gtf.1_Silent_p.L445L|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.L445L|KCNT2_uc009wyv.1_Silent_p.L420L	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	445	Cytoplasmic (Potential).|RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						TTTAAAGCTAACATGGCGTAT	0.299													G	196342340	A	G	196342340	2	3	84	1	0	0	0	0	0	0	0	1	8092	40	2	3		3	KCNT2	1	196342340	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	10064135	196342340	52908281	110	55653											
CFHR5	81494	broad.mit.edu	37	chr1	196964968	196964968	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcaatcctaattttataatAaacgggcctaagaaaataca	5	7	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:196964968A>T	uc001gts.3	+	5	857	c.729A>T	c.(727-729)ATA>ATT	p.I243I		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	243	Sushi 4.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						ATTTTATAATAAACGGGCCTA	0.343													T	196964968	A	T	196964968	2	4	84	1	0	0	0	0	0	0	0	1	3288	352	13	5		5	CFHR5	1	196964968	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	622628	196964968	52285653	111	55654											
F13B	2165	broad.mit.edu	37	chr1	197032158	197032158	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atattgggcaattcttccatTttccacatgaggaaaaccac	6	10	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:197032158T>A	uc001gtt.1	-	2	138	c.94A>T	c.(94-96)AAT>TAT	p.N32Y		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	32	Sushi 1.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						ATTCTTCCATTTTCCACATGA	0.323													A	197032158	T	A	197032158	3	1	84	1	0	0	0	0	1	0	0	0	5341	1841	64	5	1935	5	F13B	1	197032158	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	67190	197032158	52218463	112	55655											
ASPM	259266	broad.mit.edu	37	chr1	197059338	197059338	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactaacctaggtgttttaAggcctcaagaatggcagaaa	9	7	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:197059338A>G	uc001gtu.2	-	24	10074	c.9817T>C	c.(9817-9819)TTA>CTA	p.L3273L	ASPM_uc001gtv.2_Silent_p.L1688L|ASPM_uc001gtw.3_Silent_p.L1121L	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	3273					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						AGGTGTTTTAAGGCCTCAAGA	0.333													G	197059338	A	G	197059338	2	3	84	1	0	0	0	0	0	0	0	1	1056	69	3	3		3	ASPM	1	197059338	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	27180	197059338	52191283	113	55656											
ASPM	259266	broad.mit.edu	37	chr1	197091176	197091176	+	Splice_Site	DEL	A	A	-													caaataggtaataaccacctAaaaaaaacccacaaaagata							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:197091175_197091175TA>T	uc001gtu.3	-	16	3999	c.3742_splice	c.e16-1	p.V1248_splice	ASPM_uc001gtv.3_Splice_Site_p.V1248_splice|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1248					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATAACCACCTAAAAAAAACC	0.303													-	197091176	A	-	197091176	8	5	84	1	0	1	0	1	0	0	1	0	1056	377	13	0		0	ASPM	1	197091176	Splice_Site	DEL	A	TCGA-BR-8372-01A-11D-2340-08	31838	197091176	52159445	114	55657											
ATP6V1G3	127124	broad.mit.edu	37	chr1	198492652	198492652	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtatcttccctagtgtttGttcttctatttcatctgaga	6	8	5	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:198492652G>T	uc001gup.2	-	4	332	c.226C>A	c.(226-228)CAA>AAA	p.Q76K	ATP6V1G3_uc009wzd.2_Missense_Mutation_p.Q82K|ATP6V1G3_uc001guo.2_3'UTR	NM_133262	NP_573569	Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal, V1 subunit	76					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)	1						CCTAGTGTTTGTTCTTCTATT	0.343													T	198492652	G	T	198492652	3	4	84	1	0	0	0	0	1	0	0	0	1188	1386	48	5	134	5	ATP6V1G3	1	198492652	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1401476	198492652	50757969	115	55658											
LGR6	59352	broad.mit.edu	37	chr1	202288142	202288142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtgaccctcatctcctGtcagcagccaggggccccca	9	18	4	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:202288142G>A	uc001gxu.2	+	18	2711	c.2711G>A	c.(2710-2712)TGT>TAT	p.C904Y	LGR6_uc001gxv.2_Missense_Mutation_p.C852Y|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.C765Y	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	904	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						CTCATCTCCTGTCAGCAGCCA	0.607													A	202288142	G	A	202288142	3	1	84	1	0	0	0	0	1	0	0	0	8758	1377	48	4	2928	4	LGR6	1	202288142	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	3795490	202288142	46962479	116	55659											
ATP2B4	493	broad.mit.edu	37	chr1	203667346	203667346	+	Frame_Shift_Del	DEL	C	C	-													gtgtttggacacaacgtgatCccccccaaaaagcccaagac							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:203667346delC	uc001gzw.2	+	3	1139	c.255delC	c.(253-255)ATCfs	p.I85fs	ATP2B4_uc001gzv.2_Frame_Shift_Del_p.I85fs|ATP2B4_uc009xaq.2_Frame_Shift_Del_p.I85fs	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	85	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACAACGTGATCCCCCCCAAAA	0.483													-	203667346	C	-	203667346	7	5	84	1	0	1	0	1	0	0	0	0	1142	845	30	0	261	0	ATP2B4	1	203667346	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	1379204	203667346	45583275	117	55660											
KISS1	3814	broad.mit.edu	37	chr1	204159760	204159761	+	Frame_Shift_Ins	INS	-	-	G													tgcggggatctggcggctgtINSggggggcggacaggcccggc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:204159760_204159761insG	uc001har.2	-	3	422_423	c.268_269insC	c.(268-270)CACfs	p.H90fs		NM_002256	NP_002247	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	90					cytoskeleton organization	extracellular region	protein binding			ovary(1)	1	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		CTGGCGGCTGTGGGGGGCGGAC	0.723													G	204159761	-	G	204159760	7	5	84	1	0	1	1	0	0	0	0	0	8327	1696	59	0	151	0	KISS1	1	204159760	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	492414	204159760	45090861	118	55661											
DSTYK	25778	broad.mit.edu	37	chr1	205131199	205131199	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaagcctcgtgggaacTattgagccgagtccggaatt	12	9	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:205131199T>C	uc001hbw.2	-	6	1847	c.1783A>G	c.(1783-1785)AGT>GGT	p.S595G	DSTYK_uc001hbx.2_Missense_Mutation_p.S595G|DSTYK_uc001hby.1_Missense_Mutation_p.S56G	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	595						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						TCGTGGGAACTATTGAGCCGA	0.527													C	205131199	T	C	205131199	3	2	84	1	0	0	0	0	1	0	0	0	4785	1522	53	3	1038	3	DSTYK	1	205131199	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	971439	205131199	44119422	119	55662											
MFSD4	148808	broad.mit.edu	37	chr1	205554060	205554060	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acctcagaggagccccttatTccttctttgccatccacatc	5	16	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:205554060T>A	uc001hcv.3	+	5	1002	c.916T>A	c.(916-918)TCC>ACC	p.S306T	MFSD4_uc010prk.1_Missense_Mutation_p.S219T|MFSD4_uc010prl.1_RNA|MFSD4_uc010prm.1_Missense_Mutation_p.S251T	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing	306					transmembrane transport	integral to membrane				skin(2)|central_nervous_system(1)	3	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			AGCCCCTTATTCCTTCTTTGC	0.597											OREG0014158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	205554060	T	A	205554060	3	1	84	1	0	0	0	0	1	0	0	0	9533	1783	62	5	934	5	MFSD4	1	205554060	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	422861	205554060	43696561	120	55663											
IKBKE	9641	broad.mit.edu	37	chr1	206669460	206669460	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggctaaatagagtcccAgcacctcctgatgtctgagc	10	11	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:206669460A>G	uc001hdz.1	+	22	2501	c.2133A>G	c.(2131-2133)CCA>CCG	p.P711P	IKBKE_uc009xbv.1_3'UTR|IKBKE_uc001hea.1_Silent_p.P626P	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	711					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	p.P711S(1)		ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)					ATAGAGTCCCAGCACCTCCTG	0.537													G	206669460	A	G	206669460	2	3	84	1	0	0	0	0	0	0	0	1	7612	175	7	3		3	IKBKE	1	206669460	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1115400	206669460	42581161	121	55664											
RASSF5	83593	broad.mit.edu	37	chr1	206757987	206757987	+	Frame_Shift_Del	DEL	T	T	-													caatccccagaagtttgcacTttttaagcggatacacaagg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:206757987delT	uc001hed.2	+	4	1016	c.959delT	c.(958-960)CTTfs	p.L320fs	RASSF5_uc001hec.1_Frame_Shift_Del_p.L320fs|RASSF5_uc001hee.2_Frame_Shift_Del_p.L320fs|RASSF5_uc001hef.2_Frame_Shift_Del_p.L167fs|RASSF5_uc001heg.1_Frame_Shift_Del_p.L93fs	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family 5	320	Ras-associating.				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			ovary(1)	1	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			AAGTTTGCACTTTTTAAGCGG	0.522													-	206757987	T	-	206757987	7	5	84	1	0	1	0	1	0	0	0	0	13089	1609	56	0	1097	0	RASSF5	1	206757987	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	88527	206757987	42492634	122	55665											
DYRK3	8444	broad.mit.edu	37	chr1	206821426	206821426	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaattgctgagcatagacCtttatgagctgattaaaaaa	8	5	0	5			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:206821426C>A	uc001hej.2	+	3	1051	c.883C>A	c.(883-885)CTT>ATT	p.L295I	DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.L275I	NM_003582	NP_003573	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	295	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|central_nervous_system(1)	3	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GAGCATAGACCTTTATGAGCT	0.418													A	206821426	C	A	206821426	3	1	84	1	0	0	0	0	1	0	0	0	4857	681	24	5	914	5	DYRK3	1	206821426	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	63439	206821426	42429195	123	55666											
FAM71A	149647	broad.mit.edu	37	chr1	212799665	212799665	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaaggctgtggcaacccgggGagcagcaggcacagggactc	16	11	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:212799665G>T	uc001hjk.2	+	1	1850	c.1446G>T	c.(1444-1446)GGG>GGT	p.G482G	uc010pth.1_RNA	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	482										skin(3)|ovary(1)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GCAACCCGGGGAGCAGCAGGC	0.547													T	212799665	G	T	212799665	2	4	84	1	0	0	0	0	0	0	0	1	5607	1161	41	5		5	FAM71A	1	212799665	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	5978239	212799665	36450956	124	55667											
NSL1	25936	broad.mit.edu	37	chr1	212960901	212960901	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggaaaaagtcacatacCcataaaacaattatctgaag	7	7	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:212960901C>A	uc001hjn.2	-	2	347	c.313G>T	c.(313-315)GAT>TAT	p.D105Y	NSL1_uc001hjm.2_Missense_Mutation_p.D105Y|NSL1_uc010pti.1_Missense_Mutation_p.D105Y	NM_015471	NP_056286	Q96IY1	NSL1_HUMAN	NSL1, MIND kinetochore complex component isoform	105					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		AGTCACATACCCATAAAACAA	0.328													A	212960901	C	A	212960901	3	1	84	1	0	0	0	0	1	0	0	0	10673	637	22	5	641	5	NSL1	1	212960901	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	161236	212960901	36289720	125	55668											
KCNK2	3776	broad.mit.edu	37	chr1	215259855	215259855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatggaagacggtctccaCgatattcctggtggttgtcc	12	9	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:215259855C>T	uc001hkq.2	+	2	360	c.191C>T	c.(190-192)ACG>ATG	p.T64M	KCNK2_uc001hko.2_Missense_Mutation_p.T60M|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.T49M	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	64	Helical; (Potential).						outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	ACGGTCTCCACGATATTCCTG	0.502													T	215259855	C	T	215259855	3	4	84	1	0	0	0	0	1	0	0	0	8066	536	19	1	240	1	KCNK2	1	215259855	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2298954	215259855	33990766	126	55669											
USH2A	7399	broad.mit.edu	37	chr1	215987141	215987141	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttgtgcctcctgtattcGgccaccacaacaaactccag	8	14	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:215987141G>A	uc001hku.1	-	49	10063	c.9676C>T	c.(9676-9678)CGA>TGA	p.R3226*		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3226	Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCTGTATTCGGCCACCACAA	0.453										HNSCC(13;0.011)			A	215987141	G	A	215987141	4	1	84	1	0	0	0	0	0	1	0	0	17033	1124	39	1	6028	1	USH2A	1	215987141	Nonsense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	727286	215987141	33263480	127	55670											
TAF1A	9015	broad.mit.edu	37	chr1	222736617	222736617	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaataatacctccaaccccAgtttacggtgttcttctttt	4	12	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:222736617A>G	uc009xdz.1	-	9	1172	c.983T>C	c.(982-984)CTG>CCG	p.L328P	TAF1A_uc009xdy.1_Missense_Mutation_p.L19P|TAF1A_uc001hni.1_Missense_Mutation_p.L214P|TAF1A_uc001hnj.2_Missense_Mutation_p.L328P|TAF1A_uc001hnk.2_Missense_Mutation_p.L214P	NM_139352	NP_647603	Q15573	TAF1A_HUMAN	TBP-associated factor 1A isoform 2	328					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding				0				GBM - Glioblastoma multiforme(131;0.0186)		CTCCAACCCCAGTTTACGGTG	0.313													G	222736617	A	G	222736617	3	3	84	1	0	0	0	0	1	0	0	0	15516	188	7	3	381	3	TAF1A	1	222736617	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	6749476	222736617	26514004	128	55671											
MIA3	375056	broad.mit.edu	37	chr1	222827777	222827777	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggatctaaagcttttacAgcttaagctaagagcctccg	9	9	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:222827777A>G	uc001hnl.2	+	17	4433	c.4424A>G	c.(4423-4425)CAG>CGG	p.Q1475R	MIA3_uc009xea.1_Missense_Mutation_p.Q1252R|MIA3_uc001hnm.2_Missense_Mutation_p.Q353R	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1475	Cytoplasmic (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		AAGCTTTTACAGCTTAAGCTA	0.358													G	222827777	A	G	222827777	3	3	84	1	0	0	0	0	1	0	0	0	9565	188	7	3	4490	3	MIA3	1	222827777	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	91160	222827777	26422844	129	55672											
CAPN2	824	broad.mit.edu	37	chr1	223947066	223947066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcaacctccgggaggTgctcaaccgcttcaagctgc	9	15	4	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:223947066T>C	uc001hob.3	+	12	1636	c.1412T>C	c.(1411-1413)GTG>GCG	p.V471A	CAPN2_uc010puy.1_Missense_Mutation_p.V393A|CAPN2_uc001hoc.2_Missense_Mutation_p.V52A	NM_001748	NP_001739	P17655	CAN2_HUMAN	calpain 2 isoform 1	471	Domain III.				proteolysis	cytoplasm|plasma membrane				lung(3)|breast(1)|skin(1)	5				GBM - Glioblastoma multiforme(131;0.109)		CTCCGGGAGGTGCTCAACCGC	0.547													C	223947066	T	C	223947066	3	2	84	1	0	0	0	0	1	0	0	0	2627	1696	59	3	1465	3	CAPN2	1	223947066	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1119289	223947066	25303555	130	55673											
ENAH	55740	broad.mit.edu	37	chr1	225707050	225707050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgatccaggcgttcctgccGctccaggcgttcctgccgct	11	18	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:225707050G>A	uc001hpc.1	-	5	1105	c.652C>T	c.(652-654)CGG>TGG	p.R218W	ENAH_uc001hpd.1_Missense_Mutation_p.R218W	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	enabled homolog isoform a	218	Potential.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			ovary(1)|skin(1)	2	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		cgttcctgccgctccaggcgt	0.269													A	225707050	G	A	225707050	3	1	84	1	0	0	0	0	1	0	0	0	5111	1086	38	1	1167	1	ENAH	1	225707050	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1759984	225707050	23543571	131	55674											
OBSCN	84033	broad.mit.edu	37	chr1	228511060	228511060	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgactgagttgcagaaccaAgaagtgcaggatgggtatcc	13	8	0	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:228511060A>G	uc009xez.1	+	56	15449	c.15405A>G	c.(15403-15405)CAA>CAG	p.Q5135Q	OBSCN_uc001hsn.2_Silent_p.Q5135Q	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5135	Ig-like 49.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TGCAGAACCAAGAAGTGCAGG	0.552													G	228511060	A	G	228511060	2	3	84	1	0	0	0	0	0	0	0	1	10812	69	3	3		3	OBSCN	1	228511060	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2804010	228511060	20739561	132	55675											
AGT	183	broad.mit.edu	37	chr1	230846346	230846346	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagcaccagctggtcctgtAgggccttttcatccacaggg	11	13	1	0	rs61762540		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:230846346A>G	uc001hty.3	-	2	759	c.251T>C	c.(250-252)CTA>CCA	p.L84P	AGT_uc009xfe.2_Missense_Mutation_p.L84P|AGT_uc009xff.2_Missense_Mutation_p.L56P	NM_000029	NP_000020	P01019	ANGT_HUMAN	angiotensinogen preproprotein	84					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)	CTGGTCCTGTAGGGCCTTTTC	0.557													G	230846346	A	G	230846346	3	3	84	1	0	0	0	0	1	0	0	0	399	420	15	3	1222	3	AGT	1	230846346	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2335286	230846346	18404275	133	55676											
ARID4B	51742	broad.mit.edu	37	chr1	235345283	235345283	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactggaggtggtttttctAgttctacactgggtgaacaa	12	6	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:235345283A>G	uc001hwq.2	-	20	3449	c.2951T>C	c.(2950-2952)CTA>CCA	p.L984P	ARID4B_uc001hwr.2_Missense_Mutation_p.L898P|ARID4B_uc001hws.3_Missense_Mutation_p.L898P|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.L665P	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	984					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TGGTTTTTCTAGTTCTACACT	0.493													G	235345283	A	G	235345283	3	3	84	1	0	0	0	0	1	0	0	0	920	420	15	3	1007	3	ARID4B	1	235345283	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	4498937	235345283	13905338	134	55677											
NID1	4811	broad.mit.edu	37	chr1	236143154	236143154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaatacagattcttcccGtagctcgtcacagcaaaagg	9	10	2	2	rs115093040	by1000genomes	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:236143154G>A	uc001hxo.2	-	18	3579	c.3477C>T	c.(3475-3477)TAC>TAT	p.Y1159Y	NID1_uc009xgd.2_Silent_p.Y1026Y|NID1_uc009xgc.2_Silent_p.Y240Y	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	1159	LDL-receptor class B 4.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GATTCTTCCCGTAGCTCGTCA	0.597													A	236143154	G	A	236143154	2	1	84	1	0	0	0	0	0	0	0	1	10414	1140	40	1		1	NID1	1	236143154	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	797871	236143154	13107467	135	55678											
FMN2	56776	broad.mit.edu	37	chr1	240370840	240370840	+	Frame_Shift_Del	DEL	C	C	-													agggtacagaaatgctgccaCcccctccccctcctcttccc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:240370839_240370839AC>A	uc010pye.2	+	5	2964	c.2739_2739AC>A	c.(2737-2739)ccafs	p.P913fs	FMN2_uc010pyd.2_Frame_Shift_Del_p.P909fs	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	909	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAATGCTGCCACCCCCTCCCC	0.657													-	240370840	C	-	240370840	7	5	84	1	0	1	0	1	0	0	0	0	5950	507	18	0	2746	0	FMN2	1	240370840	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	4227686	240370840	8879781	136	55679											
AHCTF1	25909	broad.mit.edu	37	chr1	247021071	247021071	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattcaattctgaaaatgccTctgctgcaactaagagatcc	7	10	3	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:247021071T>C	uc001ibu.1	-	29	4185	c.4178A>G	c.(4177-4179)GAG>GGG	p.E1393G	AHCTF1_uc001ibv.1_Missense_Mutation_p.E1402G|AHCTF1_uc009xgs.1_Missense_Mutation_p.E254G|AHCTF1_uc001ibw.1_RNA	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	1393	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGAAAATGCCTCTGCTGCAAC	0.348													C	247021071	T	C	247021071	3	2	84	1	0	0	0	0	1	0	0	0	408	1551	54	3	2650	3	AHCTF1	1	247021071	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	6650231	247021071	2229550	137	55680											
ZNF496	84838	broad.mit.edu	37	chr1	247464040	247464040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctcagtttggccttgccGttttccagcggctctttggg	12	11	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:247464040G>A	uc001ico.2	-	9	2010	c.1545C>T	c.(1543-1545)AAC>AAT	p.N515N	ZNF496_uc009xgv.2_Silent_p.N551N|ZNF496_uc001icp.2_Silent_p.N515N	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	515					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TGGCCTTGCCGTTTTCCAGCG	0.632													A	247464040	G	A	247464040	2	1	84	1	0	0	0	0	0	0	0	1	17942	1136	40	1		1	ZNF496	1	247464040	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	442969	247464040	1786581	138	55681											
OR2L2	26246	broad.mit.edu	37	chr1	248201652	248201652	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattggccttttcgtattcaCcctcatttttctcattttcc	3	12	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:248201652C>A	uc001idw.2	+	1	179	c.83C>A	c.(82-84)ACC>AAC	p.T28N	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	28	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTCGTATTCACCCTCATTTTT	0.373													A	248201652	C	A	248201652	3	1	84	1	0	0	0	0	1	0	0	0	11007	507	18	5	85	5	OR2L2	1	248201652	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	737612	248201652	1048969	139	55682											
OR2T6	254879	broad.mit.edu	37	chr1	248551111	248551111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctcagccacctctccGtcattgacacattatacatc	3	17	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:248551111G>A	uc001iei.1	+	1	202	c.202G>A	c.(202-204)GTC>ATC	p.V68I		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	68	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCACCTCTCCGTCATTGACAC	0.498													A	248551111	G	A	248551111	3	1	84	1	0	0	0	0	1	0	0	0	11029	1145	40	1	204	1	OR2T6	1	248551111	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	349459	248551111	699510	140	55683											
OR2T11	127077	broad.mit.edu	37	chr1	248789732	248789732	+	Frame_Shift_Del	DEL	T	T	-													aggaacaagtggtgaaggccTttttgcgaccttcagcagag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:248789731_248789731CT>C	uc001ier.1	-	0	699	c.699_699AG>G	c.(697-699)aagfs	p.K233fs		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGTGAAGGCCTTTTTGCGAC	0.532													-	248789732	T	-	248789732	7	5	84	1	0	1	0	1	0	0	0	0	11018	1609	56	0	256	0	OR2T11	1	248789732	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	238621	248789732	460889	141	55684											
PXDN	7837	broad.mit.edu	37	chr2	1652625	1652625	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgctcgttggcgcggTggtccccggccaggaagcag	16	14	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:1652625T>C	uc002qxa.2	-	17	2991	c.2927A>G	c.(2926-2928)CAC>CGC	p.H976R		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	976					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTTGGCGCGGTGGTCCCCGGC	0.697													C	1652625	T	C	1652625	3	2	84	1	0	0	0	0	1	0	0	0	12847	1696	59	3	1540	3	PXDN	2	1652625	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08		1652625	241546748	142	55685											
PXDN	7837	broad.mit.edu	37	chr2	1670163	1670163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctctcgtccaggagatccGcggcggggggtggcctgtgg	18	12	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:1670163G>A	uc002qxa.2	-	10	1178	c.1114C>T	c.(1114-1116)CGG>TGG	p.R372W	PXDN_uc002qxb.1_Missense_Mutation_p.R372W|PXDN_uc002qxc.1_Missense_Mutation_p.R189W	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	372	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAGGAGATCCGCGGCGGGGGG	0.617													A	1670163	G	A	1670163	3	1	84	1	0	0	0	0	1	0	0	0	12847	1086	38	1	3381	1	PXDN	2	1670163	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	17538	1670163	241529210	143	55686											
ADI1	55256	broad.mit.edu	37	chr2	3502771	3502771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatttcacgtactgcccgCgggcttcaaaatggtcagcg	11	11	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:3502771C>T	uc002qxp.3	-	4	595	c.503G>A	c.(502-504)CGC>CAC	p.R168H	ADI1_uc010yiq.1_RNA	NM_018269	NP_060739	Q9BV57	MTND_HUMAN	acireductone dioxygenase 1	168					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		GTACTGCCCGCGGGCTTCAAA	0.542													T	3502771	C	T	3502771	3	4	84	1	0	0	0	0	1	0	0	0	315	768	27	1	40	1	ADI1	2	3502771	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1832608	3502771	239696602	144	55687											
HPCAL1	3241	broad.mit.edu	37	chr2	10560261	10560261	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagatgctggagatcgtgcaGgtaccggcgcccgaggcccc	16	13	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:10560261G>T	uc002raj.2	+	3	752	c.378G>T	c.(376-378)CAG>CAT	p.Q126H	HPCAL1_uc002rak.2_Missense_Mutation_p.Q126H|HPCAL1_uc002ral.2_Missense_Mutation_p.Q126H|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Missense_Mutation_p.Q126H	NM_002149	NP_002140	P37235	HPCL1_HUMAN	hippocalcin-like 1	126	EF-hand 3.						calcium ion binding			pancreas(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		AGATCGTGCAGGTACCGGCGC	0.612													T	10560261	G	T	10560261	3	4	84	1	0	0	0	0	1	0	0	0	7330	1014	35	5	380	5	HPCAL1	2	10560261	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	7057490	10560261	232639112	145	55688											
KCNF1	3754	broad.mit.edu	37	chr2	11053150	11053150	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctcgtccgtggtcatgTgcatgggcaccatccccgag	12	14	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:11053150T>C	uc002rax.2	+	1	1088	c.598T>C	c.(598-600)TGC>CGC	p.C200R		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	200	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CGTGGTCATGTGCATGGGCAC	0.667													C	11053150	T	C	11053150	3	2	84	1	0	0	0	0	1	0	0	0	8026	1696	59	3	600	3	KCNF1	2	11053150	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	492889	11053150	232146223	146	55689											
KCNF1	3754	broad.mit.edu	37	chr2	11053256	11053256	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcattggctggttcacccTggagtacctgctgcgcctct	12	13	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:11053256T>C	uc002rax.2	+	1	1194	c.704T>C	c.(703-705)CTG>CCG	p.L235P		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	235	Helical; Name=Segment S2; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TGGTTCACCCTGGAGTACCTG	0.632													C	11053256	T	C	11053256	3	2	84	1	0	0	0	0	1	0	0	0	8026	1580	55	3	706	3	KCNF1	2	11053256	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	106	11053256	232146117	147	55690											
SMC6	79677	broad.mit.edu	37	chr2	17896308	17896308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatagccaaagcaagttctGggtcccgaagatgaatgcaa	10	9	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:17896308G>A	uc002rco.2	-	16	1846	c.1550C>T	c.(1549-1551)CCA>CTA	p.P517L	SMC6_uc010exo.2_Missense_Mutation_p.P517L|SMC6_uc002rcn.2_Missense_Mutation_p.P517L|SMC6_uc002rcp.1_Missense_Mutation_p.P543L|SMC6_uc002rcq.2_Missense_Mutation_p.P543L	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	517	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGCAAGTTCTGGGTCCCGAAG	0.383													A	17896308	G	A	17896308	3	1	84	1	0	0	0	0	1	0	0	0	14787	1348	47	4	1777	4	SMC6	2	17896308	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	6843052	17896308	225303065	148	55691											
APOB	338	broad.mit.edu	37	chr2	21233672	21233673	+	Frame_Shift_Ins	INS	-	-	G													taaaagtggcactttaattgINSgggagtctagtagagttagg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:21233671_21233672T>TG	uc002red.3	-	25	6196_6197	c.6068_6069A>CA	c.(6067-6069)ccafs	p.P2023fs		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2023					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCACTTTAATTGGGGAGTCTAG	0.421													G	21233673	-	G	21233672	7	5	84	1	0	1	1	0	0	0	0	0	785	1348	47	0	7639	0	APOB	2	21233672	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	3337364	21233672	221965701	149	55692											
KCNK3	3777	broad.mit.edu	37	chr2	26950859	26950859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaccaccatcggcttcgGcgactacgtggcgctgcaga	11	16	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:26950859G>A	uc002rhn.2	+	2	771	c.608G>A	c.(607-609)GGC>GAC	p.G203D		NM_002246	NP_002237	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	203					synaptic transmission	integral to plasma membrane				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCGGCTTCGGCGACTACGTG	0.627													A	26950859	G	A	26950859	3	1	84	1	0	0	0	0	1	0	0	0	8067	1203	42	2	614	2	KCNK3	2	26950859	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	5717187	26950859	216248514	150	55693											
EMILIN1	11117	broad.mit.edu	37	chr2	27302057	27302057	+	Frame_Shift_Del	DEL	G	G	-													ccagtggggccctcagccccGgggggccccaggcccagatt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:27302056_27302056CG>C	uc002rii.4	+	0	622	c.123_123CG>C	c.(121-123)cccfs	p.P41fs	EMILIN1_uc010eyq.2_Frame_Shift_Del_p.P41fs	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.	41					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTCAGCCCCGGGGGGCCCC	0.682													-	27302057	G	-	27302057	7	5	84	1	0	1	0	1	0	0	0	0	5093	1116	39	0	126	0	EMILIN1	2	27302057	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	351198	27302057	215897316	151	55694											
CAD	790	broad.mit.edu	37	chr2	27458431	27458431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagctgctcccaactgtgCggctactggagagcctgggc	15	13	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:27458431C>T	uc002rji.2	+	25	4159	c.3997C>T	c.(3997-3999)CGG>TGG	p.R1333W	CAD_uc010eyw.2_Missense_Mutation_p.R1270W	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1333	CPSase B.|CPSase (Carbamoyl-phosphate synthase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCCAACTGTGCGGCTACTGGA	0.537													T	27458431	C	T	27458431	3	4	84	1	0	0	0	0	1	0	0	0	2565	759	27	1	4095	1	CAD	2	27458431	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	156374	27458431	215740942	152	55695											
GTF3C2	2976	broad.mit.edu	37	chr2	27558811	27558811	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgcctggaagttcccaTgctccactggggcagaactt	14	11	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:27558811T>A	uc002rjv.1	-	10	1803	c.1440A>T	c.(1438-1440)GCA>GCT	p.A480A	GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rju.1_Silent_p.A491A|GTF3C2_uc002rjw.1_Silent_p.A480A|GTF3C2_uc010eyz.1_Silent_p.A480A|uc002rjy.1_Intron	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	480	WD 1.					transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGTTCCCATGCTCCACTGG	0.562													A	27558811	T	A	27558811	2	1	84	1	0	0	0	0	0	0	0	1	6873	1451	51	5		5	GTF3C2	2	27558811	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	100380	27558811	215640562	153	55696											
CRIM1	51232	broad.mit.edu	37	chr2	36583582	36583582	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaagtgcgaggagcccagGaactgcccggggagcatcgt	15	12	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:36583582G>A	uc002rpd.2	+	1	186	c.147G>A	c.(145-147)AGG>AGA	p.R49R		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	49	IGFBP N-terminal.|Extracellular (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AGGAGCCCAGGAACTGCCCGG	0.692													A	36583582	G	A	36583582	2	1	84	1	0	0	0	0	0	0	0	1	3873	1165	41	4		4	CRIM1	2	36583582	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	9024771	36583582	206615791	154	55697											
VIT	5212	broad.mit.edu	37	chr2	36970398	36970398	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtggcgctgccgtacacAggtgagtggttctgagctac	15	9	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:36970398A>C	uc002rpl.2	+	4	495	c.274A>C	c.(274-276)AGT>CGT	p.S92R	VIT_uc002rpk.2_Missense_Mutation_p.S85R|VIT_uc010ynf.1_Missense_Mutation_p.S85R|VIT_uc002rpm.2_Missense_Mutation_p.S85R|VIT_uc010ezv.2_Missense_Mutation_p.S85R|VIT_uc010ezw.2_Missense_Mutation_p.S85R	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	92	LCCL.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				TGCCGTACACAGGTGAGTGGT	0.468													C	36970398	A	C	36970398	3	2	84	1	0	0	0	0	1	0	0	0	17168	202	7	5	284	5	VIT	2	36970398	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	386816	36970398	206228975	155	55698											
PRKD3	23683	broad.mit.edu	37	chr2	37516634	37516634	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaatcttgaaggcacatcgTttatggtaatttaatccaca	8	7	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:37516634T>C	uc002rqd.2	-	4	1137	c.582A>G	c.(580-582)AAA>AAG	p.K194K	PRKD3_uc002rqf.1_Silent_p.K194K	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	194	Phorbol-ester/DAG-type 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				AGGCACATCGTTTATGGTAAT	0.338													C	37516634	T	C	37516634	2	2	84	1	0	0	0	0	0	0	0	1	12520	1722	60	3		3	PRKD3	2	37516634	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	546236	37516634	205682739	156	55699											
ATL2	64225	broad.mit.edu	37	chr2	38525369	38525369	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatttaacatatgcccaagTacaaagaaatatcagtgcta	6	7	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:38525369T>C	uc002rqq.2	-	12	1579	c.1549A>G	c.(1549-1551)ACT>GCT	p.T517A	ATL2_uc010ynm.1_Missense_Mutation_p.T499A|ATL2_uc010ynn.1_Missense_Mutation_p.T499A|ATL2_uc010yno.1_Missense_Mutation_p.T346A|ATL2_uc002rqs.2_Missense_Mutation_p.T517A|ATL2_uc002rqr.2_Missense_Mutation_p.T346A	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2 isoform 2	517	Helical; (Potential).				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			ovary(1)|kidney(1)|skin(1)	3						TATGCCCAAGTACAAAGAAAT	0.393													C	38525369	T	C	38525369	3	2	84	1	0	0	0	0	1	0	0	0	1107	1638	57	3	322	3	ATL2	2	38525369	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1008735	38525369	204674004	157	55700											
PKDCC	91461	broad.mit.edu	37	chr2	42280472	42280472	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtagaaatgatccagctgCtgcaaacttcctgggaggat	11	9	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:42280472C>T	uc002rsg.2	+	2	912	c.733C>T	c.(733-735)CTG>TTG	p.L245L		NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN	protein kinase-like protein SgK493	245	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(1)	1						GATCCAGCTGCTGCAAACTTC	0.607													T	42280472	C	T	42280472	2	4	84	1	0	0	0	0	0	0	0	1	11969	796	28	2		2	PKDCC	2	42280472	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	3755103	42280472	200918901	158	55701											
PLEKHH2	130271	broad.mit.edu	37	chr2	43970051	43970051	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacttcatgaatgggatAtaccaggtaggttacctgat	11	7	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:43970051A>G	uc010yny.1	+	22	3476	c.3393A>G	c.(3391-3393)ATA>ATG	p.I1131M		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	1131	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGAATGGGATATACCAGGTAG	0.413													G	43970051	A	G	43970051	3	3	84	1	0	0	0	0	1	0	0	0	12077	439	16	3	3475	3	PLEKHH2	2	43970051	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1689579	43970051	199229322	159	55702											
PREPL	9581	broad.mit.edu	37	chr2	44550553	44550553	+	Splice_Site	DEL	A	A	-													aacatccaagaaaggtgcctAaaaaaaaggcaaagaaactt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:44550552_44550552TA>T	uc002ruf.3	-	11	2706	c.1747_splice	c.e11-1	p.A583_splice	PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	583					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAAAGGTGCCTAAAAAAAAGG	0.333													-	44550553	A	-	44550553	8	5	84	1	0	1	0	1	0	0	1	0	12475	377	13	0		0	PREPL	2	44550553	Splice_Site	DEL	A	TCGA-BR-8372-01A-11D-2340-08	580502	44550553	198648820	160	55703											
SIX3	6496	broad.mit.edu	37	chr2	45169340	45169340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatacttctggcgagtagcGgcggcgggaacggtgcggga	18	10	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:45169340G>A	uc002run.1	+	1	304	c.97G>A	c.(97-99)GGC>AGC	p.G33S		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	33	Poly-Gly.				visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGCGAGTAgcggcggcgggaa	0.264													A	45169340	G	A	45169340	3	1	84	1	0	0	0	0	1	0	0	0	14348	1116	39	1	99	1	SIX3	2	45169340	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	618787	45169340	198030033	161	55704											
MSH6	2956	broad.mit.edu	37	chr2	48030640	48030641	+	Frame_Shift_Ins	INS	-	-	C													attctgttgccggaagatacINScccccccttcttagagctta					rs63749866		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:48030639_48030640A>AC	uc002rwd.4	+	4	3405_3406	c.3253_3254A>AC	c.(3253-3255)accfs	p.T1085fs	MSH6_uc010fbj.3_Frame_Shift_Ins_p.T783fs|MSH6_uc010yoj.2_Frame_Shift_Ins_p.T783fs	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	1085					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)|p.F1088fs*5(1)|p.F1088fs*2(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCCGGAAGATACCCCCCCCTTC	0.436			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				C	48030641	-	C	48030640	7	5	84	1	0	1	1	0	0	0	0	0	9874	507	18	0	3272	0	MSH6	2	48030640	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	2861300	48030640	195168733	162	55705											
FBXO11	80204	broad.mit.edu	37	chr2	48035303	48035303	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctataggtggagcagagtcaTatagtgtatctgtatcatgt	11	5	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:48035303T>C	uc010fbl.2	-	23	2600	c.2486A>G	c.(2485-2487)TAT>TGT	p.Y829C	FBXO11_uc002rwe.2_Missense_Mutation_p.Y829C|FBXO11_uc010fbk.2_Missense_Mutation_p.Y337C	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	913					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGCAGAGTCATATAGTGTATC	0.383													C	48035303	T	C	48035303	3	2	84	1	0	0	0	0	1	0	0	0	5727	1406	49	3	49	3	FBXO11	2	48035303	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	4663	48035303	195164070	163	55706											
NRXN1	9378	broad.mit.edu	37	chr2	50280668	50280668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggccctggaagggctggCcctgctctttcccgccaatt	12	15	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:50280668C>T	uc010fbp.2	-	4	1481	c.674G>A	c.(673-675)GGC>GAC	p.G225D	NRXN1_uc002rxb.3_Missense_Mutation_p.G962D|NRXN1_uc010fbq.2_Missense_Mutation_p.G1330D|NRXN1_uc002rxe.3_Missense_Mutation_p.G1260D	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	225	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAAGGGCTGGCCCTGCTCTTT	0.453													T	50280668	C	T	50280668	3	4	84	1	0	0	0	0	1	0	0	0	10665	739	26	2	666	2	NRXN1	2	50280668	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2245365	50280668	192918705	164	55707											
NRXN1	9378	broad.mit.edu	37	chr2	51255157	51255157	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagctgcaggcggccgccGcgcgtcagaatcagctccag	14	15	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:51255157G>A	uc010fbq.2	-	2	1732	c.255C>T	c.(253-255)CGC>CGT	p.R85R	NRXN1_uc002rxe.3_Silent_p.R85R|NRXN1_uc002rxd.1_Silent_p.R85R	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGCGGCCGCCGCGCGTCAGAA	0.667													A	51255157	G	A	51255157	2	1	84	1	0	0	0	0	0	0	0	1	10665	1074	38	1		1	NRXN1	2	51255157	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	974489	51255157	191944216	165	55708											
RTN4	57142	broad.mit.edu	37	chr2	55252719	55252719	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataagtcatcatttgaataaActgcagtactgagctcctcc	6	10	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:55252719A>G	uc002rye.2	-	3	2814	c.2516T>C	c.(2515-2517)GTT>GCT	p.V839A	RTN4_uc002ryd.2_Missense_Mutation_p.V633A|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	839	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3						ATTTGAATAAACTGCAGTACT	0.343													G	55252719	A	G	55252719	3	3	84	1	0	0	0	0	1	0	0	0	13728	43	2	3	1128	3	RTN4	2	55252719	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	3997562	55252719	187946654	166	55709											
PAPOLG	64895	broad.mit.edu	37	chr2	60983631	60983631	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgatgaaagagatgtctgcGtaagtggtggggggcggcgg	21	5	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:60983631G>A	uc002sai.2	+	1	248	c.17_splice	c.e1+1	p.A6_splice	PAPOLG_uc002saj.2_Intron	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma						mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AGATGTCTGCGTAAGTGGTGG	0.597													A	60983631	G	A	60983631	5	1	84	1	0	0	0	0	0	0	1	0	11431	1159	40	1	20	1	PAPOLG	2	60983631	Splice_Site	SNP	G	TCGA-BR-8372-01A-11D-2340-08	5730912	60983631	182215742	167	55710											
CCT4	10575	broad.mit.edu	37	chr2	62110669	62110669	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtaatggttacatcaccTtttccatcttgaatctagaa	5	8	3	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:62110669T>C	uc002sbo.2	-	3	344	c.195A>G	c.(193-195)AAA>AAG	p.K65K	CCT4_uc010ypp.1_Silent_p.K9K|CCT4_uc010ypq.1_5'UTR|CCT4_uc010ypr.1_Silent_p.K9K|CCT4_uc010yps.1_Intron	NM_006430	NP_006421	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	65					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			ovary(2)	2	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			TTACATCACCTTTTCCATCTT	0.289													C	62110669	T	C	62110669	2	2	84	1	0	0	0	0	0	0	0	1	2955	1606	56	3		3	CCT4	2	62110669	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1127038	62110669	181088704	168	55711											
AFTPH	54812	broad.mit.edu	37	chr2	64779519	64779519	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtttcagaaataagcaTagtgactaacagaggtttca	9	5	2	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:64779519T>C	uc002sdc.2	+	1	943	c.911T>C	c.(910-912)ATA>ACA	p.I304T	AFTPH_uc002scz.2_Missense_Mutation_p.I304T|AFTPH_uc002sda.2_Missense_Mutation_p.I304T|AFTPH_uc002sdb.2_Missense_Mutation_p.I304T	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	304					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						GAAATAAGCATAGTGACTAAC	0.403													C	64779519	T	C	64779519	3	2	84	1	0	0	0	0	1	0	0	0	364	1406	49	3	913	3	AFTPH	2	64779519	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	2668850	64779519	178419854	169	55712											
C2orf42	54980	broad.mit.edu	37	chr2	70406777	70406777	+	Splice_Site	DEL	A	A	-													caataatctctttaagacctAaaaaaaagaagatttctgaa							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:70406776_70406776TA>T	uc002sgh.3	-	4	1152	c.824_splice	c.e4-1	p.G275_splice		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	275										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CTTTAAGACCTAAAAAAAAGA	0.353													-	70406777	A	-	70406777	8	5	84	1	0	1	0	1	0	0	1	0	2166	377	13	0		0	C2orf42	2	70406777	Splice_Site	DEL	A	TCGA-BR-8372-01A-11D-2340-08	5627258	70406777	172792596	170	55713											
C2orf78	388960	broad.mit.edu	37	chr2	74043234	74043234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgaagctccctaggcatGcacatgctagagtccgtgca	10	15	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:74043234G>A	uc002sjr.1	+	3	2005	c.1884G>A	c.(1882-1884)ATG>ATA	p.M628I		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	628										ovary(2)	2						CCCTAGGCATGCACATGCTAG	0.463													A	74043234	G	A	74043234	3	1	84	1	0	0	0	0	1	0	0	0	2195	1319	46	2	1894	2	C2orf78	2	74043234	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	3636457	74043234	169156139	171	55714											
CTNNA2	1496	broad.mit.edu	37	chr2	80136836	80136836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggccgactcctcctgcacGcgagacgaccggcgcgagag	14	15	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:80136836G>A	uc010ysh.1	+	6	974	c.969G>A	c.(967-969)ACG>ACA	p.T323T	CTNNA2_uc010yse.1_Silent_p.T323T|CTNNA2_uc010ysf.1_Silent_p.T323T|CTNNA2_uc010ysg.1_Silent_p.T323T	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	323					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						CCTCCTGCACGCGAGACGACC	0.647													A	80136836	G	A	80136836	2	1	84	1	0	0	0	0	0	0	0	1	4013	1074	38	1		1	CTNNA2	2	80136836	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	6093602	80136836	163062537	172	55715											
LRRTM1	347730	broad.mit.edu	37	chr2	80529715	80529715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccgcctggaagagccacGgtggcaggctcgaatgtgcc	15	13	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:80529715G>A	uc002sok.1	-	2	1500	c.1230C>T	c.(1228-1230)ACC>ACT	p.T410T	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	410	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GAAGAGCCACGGTGGCAGGCT	0.687										HNSCC(69;0.2)			A	80529715	G	A	80529715	2	1	84	1	0	0	0	0	0	0	0	1	9039	1103	39	1		1	LRRTM1	2	80529715	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	392879	80529715	162669658	173	55716											
TGOLN2	10618	broad.mit.edu	37	chr2	85554313	85554313	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggccgtccgcacccgacTtattagggacatcttttgtg	10	12	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:85554313T>C	uc010fgd.1	-	2	831	c.542A>G	c.(541-543)AAG>AGG	p.K181R	TGOLN2_uc002soz.2_Missense_Mutation_p.K181R|TGOLN2_uc002spa.2_RNA|TGOLN2_uc002spb.2_Missense_Mutation_p.K181R|TGOLN2_uc002spc.1_Missense_Mutation_p.K181R	NM_006464	NP_006455	O43493	TGON2_HUMAN	trans-golgi network protein 2	181	Extracellular (Potential).|10.|14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding				0						CGCACCCGACTTATTAGGGAC	0.587													C	85554313	T	C	85554313	3	2	84	1	0	0	0	0	1	0	0	0	15833	1609	56	3	783	3	TGOLN2	2	85554313	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	5024598	85554313	157645060	174	55717											
MAT2A	4144	broad.mit.edu	37	chr2	85769744	85769744	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacacttatggcggttggggTgctcatggaggaggtgcctt	17	7	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:85769744T>C	uc002spr.2	+	7	948	c.825T>C	c.(823-825)GGT>GGC	p.G275G	MAT2A_uc010ysr.1_Silent_p.G275G|MAT2A_uc010fgk.2_Silent_p.G249G|MAT2A_uc010fgl.2_Silent_p.G212G	NM_005911	NP_005902	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	275					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GCGGTTGGGGTGCTCATGGAG	0.473													C	85769744	T	C	85769744	2	2	84	1	0	0	0	0	0	0	0	1	9330	1683	59	3		3	MAT2A	2	85769744	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	215431	85769744	157429629	175	55718											
MAL	4118	broad.mit.edu	37	chr2	95691557	95691558	+	Frame_Shift_Ins	INS	-	-	G													atggcccccgcagcggcgacINSggggggcagcaccctgccca					rs138435313		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:95691557_95691558insG	uc002stx.1	+	1	79_80	c.20_21insG	c.(19-21)ACGfs	p.T7fs	MAL_uc002sty.1_Frame_Shift_Ins_p.T7fs|MAL_uc002stz.1_Frame_Shift_Ins_p.T7fs|MAL_uc002sua.1_Frame_Shift_Ins_p.T7fs	NM_002371	NP_002362	P21145	MAL_HUMAN	T-lymphocyte maturation-associated protein	7	Cytoplasmic (Potential).				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath				0				STAD - Stomach adenocarcinoma(1183;0.18)		GCAGCGGCGACGGGGGGCAGCA	0.693													G	95691558	-	G	95691557	7	5	84	1	0	1	1	0	0	0	0	0	9199	536	19	0	22	0	MAL	2	95691557	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	9921813	95691557	147507816	176	55719											
CNNM4	26504	broad.mit.edu	37	chr2	97474358	97474358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccctcagttacccagaccGcacagacgtctcaactgcag	7	17	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:97474358G>A	uc002swx.2	+	6	2107	c.2009G>A	c.(2008-2010)CGC>CAC	p.R670H	CNNM4_uc010yuy.1_Missense_Mutation_p.R157H	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	cyclin M4	670					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|ovary(1)	3						TACCCAGACCGCACAGACGTC	0.617													A	97474358	G	A	97474358	3	1	84	1	0	0	0	0	1	0	0	0	3615	1087	38	1	2031	1	CNNM4	2	97474358	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1782801	97474358	145725015	177	55720											
ANKRD23	200539	broad.mit.edu	37	chr2	97507821	97507821	+	Frame_Shift_Del	DEL	G	G	-													accaggggctcaggtttcctGggggggactctgtgtctcag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:97507820_97507820TG>T	uc002sxa.3	-	2	306	c.277_277CA>A	c.(277-279)aggfs	p.R93fs	ANKRD23_uc002sxb.3_Non-coding_Transcript|ANKRD23_uc002sxc.3_Frame_Shift_Del_p.R93fs	NM_144994	NP_659431	Q86SG2	ANR23_HUMAN	Homo sapiens ankyrin repeat domain 23 (ANKRD23), mRNA.	93						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TCAGGTTTCCTGGGGGGGACT	0.532													-	97507821	G	-	97507821	7	5	84	1	0	1	0	1	0	0	0	0	652	1335	47	0	669	0	ANKRD23	2	97507821	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	33463	97507821	145691552	178	55721											
ZAP70	7535	broad.mit.edu	37	chr2	98340769	98340769	+	Frame_Shift_Del	DEL	C	C	-													tgcgagttctactcgcgcgaCcccgacgggctgccctgcaa							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:98340769delC	uc002syd.1	+	3	477	c.270delC	c.(268-270)GACfs	p.D90fs	ZAP70_uc010yvf.1_Frame_Shift_Del_p.D90fs|ZAP70_uc002sye.1_5'Flank	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	90	SH2 1.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						ACTCGCGCGACCCCGACGGGC	0.692													-	98340769	C	-	98340769	7	5	84	1	0	1	0	1	0	0	0	0	17511	506	18	0	272	0	ZAP70	2	98340769	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	832948	98340769	144858604	179	55722											
TMEM131	23505	broad.mit.edu	37	chr2	98411544	98411544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttataaacttcagttcccGaataactctagaagctgtaa	6	8	2	1	rs61753932		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:98411544G>A	uc002syh.3	-	29	3464	c.3235C>T	c.(3235-3237)CGG>TGG	p.R1079W		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1079						integral to membrane				ovary(4)|central_nervous_system(2)	6						TTCAGTTCCCGAATAACTCTA	0.368													A	98411544	G	A	98411544	3	1	84	1	0	0	0	0	1	0	0	0	16041	1057	37	1	2468	1	TMEM131	2	98411544	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	70775	98411544	144787829	180	55723											
TMEM131	23505	broad.mit.edu	37	chr2	98429195	98429196	+	Frame_Shift_Ins	INS	-	-	G													tgaaacgttcctctattttgINSgggggcaatacaaagtactg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:98429194_98429195T>TG	uc002syh.4	-	15	1864_1865	c.1635_1636A>CA	c.(1633-1638)cccaaafs	p.P545fs		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	545						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCTCTATTTTGGGGGGCAATA	0.297													G	98429196	-	G	98429195	7	5	84	1	0	1	1	0	0	0	0	0	16041	1335	47	0	4120	0	TMEM131	2	98429195	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	17651	98429195	144770178	181	55724											
INPP4A	3631	broad.mit.edu	37	chr2	99163123	99163123	+	Frame_Shift_Del	DEL	A	A	-													ttaagtcaggaggtctccgcAaaaagctgcacaaatttgaa							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:99163122_99163122CA>C	uc002syy.3	+	12	1521	c.1128_1128CA>C	c.(1126-1128)cgcfs	p.R376fs	INPP4A_uc010yvj.1_Frame_Shift_Del_p.R376fs|INPP4A_uc010yvk.2_Frame_Shift_Del_p.R376fs|INPP4A_uc002syx.3_Frame_Shift_Del_p.R376fs|INPP4A_uc010fik.3_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA.	376					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GAGGTCTCCGCAAAAAGCTGC	0.458													-	99163123	A	-	99163123	7	5	84	1	0	1	0	1	0	0	0	0	7752	131	5	0	1171	0	INPP4A	2	99163123	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	733928	99163123	144036250	182	55725											
EIF5B	9669	broad.mit.edu	37	chr2	99977650	99977651	+	Frame_Shift_Ins	INS	-	-	A													ggaattcacctcaaaagataINSaaaaaaagaaaggacagaag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:99977649_99977650T>TA	uc002tab.3	+	3	469_470	c.285_286T>TA	c.(283-288)gataaafs	p.D95fs		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	95	Poly-Lys.				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTCAAAAGATAAAAAAAAGAA	0.307													A	99977651	-	A	99977650	7	5	84	1	0	1	1	0	0	0	0	0	5044	363	13	0	300	0	EIF5B	2	99977650	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	814527	99977650	143221723	183	55726											
EIF5B	9669	broad.mit.edu	37	chr2	100006804	100006804	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taccttcttgtagagttaacTcagaccatgttgagcaagag	9	8	2	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:100006804T>G	uc002tab.2	+	16	2710	c.2526T>G	c.(2524-2526)ACT>ACG	p.T842T		NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	842					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						TAGAGTTAACTCAGACCATGT	0.408													G	100006804	T	G	100006804	2	3	84	1	0	0	0	0	0	0	0	1	5044	1538	54	5		5	EIF5B	2	100006804	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	29154	100006804	143192569	184	55727											
EIF5B	9669	broad.mit.edu	37	chr2	100011328	100011329	+	Frame_Shift_Del	DEL	AG	AG	-													tagacaagactacaagaaacAgaaacaagaagaatttaagt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:100011327_100011328CAG>C	uc002tab.3	+	20	3419_3420	c.3235_3236CAG>C	c.(3235-3237)cagfs	p.Q1079fs	EIF5B_uc010yvq.2_Frame_Shift_Del_p.Q61fs	NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	1079					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTACAAGAAACAGAAACAAGAA	0.282													-	100011329	AG	-	100011328	7	5	84	1	0	1	0	1	0	0	0	0	5044	188	7	0	3318	0	EIF5B	2	100011328	Frame_Shift_Del	DEL	AG	TCGA-BR-8372-01A-11D-2340-08	4524	100011328	143188045	185	55728											
RANBP2	5903	broad.mit.edu	37	chr2	109374884	109374884	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatagaaagaaatgcaggagTtgaaactaaatagcagtaac	9	4	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:109374884T>C	uc002tem.3	+	18	2608	c.2482T>C	c.(2482-2484)TTG>CTG	p.L828L		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	828					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						AATGCAGGAGTTGAAACTAAA	0.358													C	109374884	T	C	109374884	2	2	84	1	0	0	0	0	0	0	0	1	13028	1722	60	3		3	RANBP2	2	109374884	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	9363556	109374884	133824489	186	55729											
TMEM87B	84910	broad.mit.edu	37	chr2	112839024	112839024	+	Frame_Shift_Del	DEL	T	T	-													gttctggattgcagctgttaTttttttgggaatgcttgaaa							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:112839023_112839023AT>A	uc002thm.2	+	7	1135	c.766_766AT>A	c.(766-768)attfs	p.I256fs	TMEM87B_uc010fkg.2_Frame_Shift_Del_p.I239fs|TMEM87B_uc010fkh.2_3'UTR	NM_032824	NP_116213	Q96K49	TM87B_HUMAN	Homo sapiens transmembrane protein 87B (TMEM87B), mRNA.	256						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						TGCAGCTGTTATTTTTTTGGG	0.343													-	112839024	T	-	112839024	7	5	84	1	0	1	0	1	0	0	0	0	16208	1493	52	0	797	0	TMEM87B	2	112839024	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	3464140	112839024	130360349	187	55730											
PSD4	23550	broad.mit.edu	37	chr2	113942987	113942987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaggaggtcctttttggCcccaggtgactcttaactcc	11	11	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:113942987C>T	uc002tjc.2	+	4	1402	c.1219C>T	c.(1219-1221)CCC>TCC	p.P407S	PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Missense_Mutation_p.P406S|PSD4_uc002tjf.2_5'UTR	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	407					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						TCCTTTTTGGCCCCAGGTGAC	0.517													T	113942987	C	T	113942987	3	4	84	1	0	0	0	0	1	0	0	0	12649	739	26	2	1229	2	PSD4	2	113942987	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1103963	113942987	129256386	188	55731											
TSN	7247	broad.mit.edu	37	chr2	122520638	122520638	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagattatctctcaggagTtctaattcttgccagtgaac	8	8	4	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:122520638T>C	uc002tnl.2	+	5	666	c.431T>C	c.(430-432)GTT>GCT	p.V144A	TSN_uc002tnm.2_Missense_Mutation_p.V97A|TSN_uc010yze.1_Intron|TSN_uc010flt.2_RNA	NM_004622	NP_004613	Q15631	TSN_HUMAN	translin	144					DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			breast(2)|large_intestine(1)	3		Ovarian(717;0.0563)|Prostate(154;0.116)				CTCTCAGGAGTTCTAATTCTT	0.343													C	122520638	T	C	122520638	3	2	84	1	0	0	0	0	1	0	0	0	16626	1725	60	3	449	3	TSN	2	122520638	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	8577651	122520638	120678735	189	55732											
LIMS2	55679	broad.mit.edu	37	chr2	128399701	128399701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggccccgcagatggggaCgcccatcttgtcatggcagg	15	13	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:128399701C>T	uc002tpa.2	-	6	749	c.583G>A	c.(583-585)GTC>ATC	p.V195I	LIMS2_uc002tou.2_Missense_Mutation_p.V3I|LIMS2_uc002tov.2_Missense_Mutation_p.V43I|LIMS2_uc002tow.2_Missense_Mutation_p.V43I|LIMS2_uc002tox.2_Missense_Mutation_p.V219I|LIMS2_uc010fmb.2_Missense_Mutation_p.V105I|LIMS2_uc002toy.2_Missense_Mutation_p.V190I|LIMS2_uc010yzm.1_Missense_Mutation_p.V217I|LIMS2_uc002toz.2_Missense_Mutation_p.V190I|LIMS2_uc002tpb.2_Missense_Mutation_p.V190I	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	195	LIM zinc-binding 3.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CAGATGGGGACGCCCATCTTG	0.682													T	128399701	C	T	128399701	3	4	84	1	0	0	0	0	1	0	0	0	8804	536	19	1	462	1	LIMS2	2	128399701	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	5879063	128399701	114799672	190	55733											
YSK4	80122	broad.mit.edu	37	chr2	135738675	135738675	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgccatttaaacctgcccaGgccaaacgcctggcacagcc	9	16	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:135738675G>T	uc002tue.1	-	9	3667	c.3636C>A	c.(3634-3636)GCC>GCA	p.A1212A	YSK4_uc002tuf.1_Silent_p.A394A|YSK4_uc010fnc.1_Silent_p.A346A|YSK4_uc010fnd.1_Silent_p.A1099A|YSK4_uc010zbg.1_Silent_p.A344A|YSK4_uc002tuh.3_Silent_p.A940A|YSK4_uc002tui.3_3'UTR	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	1212	Protein kinase.						ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)		AACCTGCCCAGGCCAAACGCC	0.468													T	135738675	G	T	135738675	2	4	84	1	0	0	0	0	0	0	0	1	17492	987	35	5		5	YSK4	2	135738675	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	7338974	135738675	107460698	191	55734											
MBD5	55777	broad.mit.edu	37	chr2	149226443	149226444	+	Frame_Shift_Ins	INS	-	-	A													tacaaagagtccagtaatgaINSaaaaaccaatgtgtaatttt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:149226442_149226443G>GA	uc002twm.4	+	8	1927_1928	c.930_931G>GA	c.(928-933)atgaaafs	p.M310fs	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	310						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GTCCAGTAATGAAAAAACCAAT	0.45													A	149226444	-	A	149226443	7	5	84	1	0	1	1	0	0	0	0	0	9347	247	9	0	945	0	MBD5	2	149226443	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	13487768	149226443	93972930	192	55735											
NR4A2	4929	broad.mit.edu	37	chr2	157185013	157185013	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcagtttttatttgctaaAcacacgtattttgcattttt	7	6	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:157185013A>G	uc002tyz.3	-	4	1319	c.897T>C	c.(895-897)TGT>TGC	p.C299C	NR4A2_uc002tyx.3_Silent_p.C236C|NR4A2_uc010zcf.1_Silent_p.C299C|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	299	NR C4-type.|Nuclear receptor.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						TATTTGCTAAACACACGTATT	0.428													G	157185013	A	G	157185013	2	3	84	1	0	0	0	0	0	0	0	1	10633	41	2	3		3	NR4A2	2	157185013	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	7958570	157185013	86014360	193	55736											
GALNT5	11227	broad.mit.edu	37	chr2	158115854	158115854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctgaagacagtggaacGcaccaggtgttaagaattga	11	7	0	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:158115854G>A	uc002tzg.2	+	1	1515	c.1260G>A	c.(1258-1260)ACG>ACA	p.T420T	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	420	Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4						ACAGTGGAACGCACCAGGTGT	0.493													A	158115854	G	A	158115854	2	1	84	1	0	0	0	0	0	0	0	1	6216	1074	38	1		1	GALNT5	2	158115854	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	930841	158115854	85083519	194	55737											
TANC1	85461	broad.mit.edu	37	chr2	160027265	160027265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggccctgagctgccacGgaagccgcatgaggcagatt	15	11	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:160027265G>A	uc002uag.2	+	10	1574	c.1300G>A	c.(1300-1302)GGA>AGA	p.G434R	TANC1_uc010fol.1_Missense_Mutation_p.G328R|TANC1_uc010zcm.1_Missense_Mutation_p.G426R|TANC1_uc010fom.1_Missense_Mutation_p.G240R	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	434						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						GAGCTGCCACGGAAGCCGCAT	0.483													A	160027265	G	A	160027265	3	1	84	1	0	0	0	0	1	0	0	0	15541	1117	39	1	1330	1	TANC1	2	160027265	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1911411	160027265	83172108	195	55738											
WDSUB1	151525	broad.mit.edu	37	chr2	160139475	160139475	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagtcacgtaacgagtacaGgcgaattgttttgtccaagg	11	7	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:160139475G>T	uc002uaj.3	-	2	255	c.106C>A	c.(106-108)CTG>ATG	p.L36M	WDSUB1_uc002uak.3_Missense_Mutation_p.L36M|WDSUB1_uc002ual.3_Missense_Mutation_p.L36M|WDSUB1_uc002uam.3_Missense_Mutation_p.L36M|WDSUB1_uc010foo.2_Missense_Mutation_p.L36M	NM_152528	NP_689741	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain	36	WD 1.					ubiquitin ligase complex	ubiquitin-protein ligase activity				0						AACGAGTACAGGCGAATTGTT	0.448													T	160139475	G	T	160139475	3	4	84	1	0	0	0	0	1	0	0	0	17338	991	35	5	1364	5	WDSUB1	2	160139475	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	112210	160139475	83059898	196	55739											
BAZ2B	29994	broad.mit.edu	37	chr2	160243034	160243034	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaactttaccaaagtttcGtaagaactgcaccaccatga	5	11	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:160243034G>A	uc002uao.2	-	22	3653	c.3301C>T	c.(3301-3303)CGA>TGA	p.R1101*	BAZ2B_uc002uap.2_Nonsense_Mutation_p.R1065*	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1101	DDT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						CCAAAGTTTCGTAAGAACTGC	0.408													A	160243034	G	A	160243034	4	1	84	1	0	0	0	0	0	1	0	0	1332	1153	40	1	3269	1	BAZ2B	2	160243034	Nonsense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	103559	160243034	82956339	197	55740											
LY75	4065	broad.mit.edu	37	chr2	160714970	160714970	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaaatgccagcctcttcgCcatggcctatgaaataccta	7	12	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:160714970C>T	uc002ubc.3	-	16	2355	c.2286G>A	c.(2284-2286)TGG>TGA	p.W762*	LY75_uc002ubb.3_Nonsense_Mutation_p.W762*|LY75_uc010fos.2_Nonsense_Mutation_p.W762*	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	762	Extracellular (Potential).|C-type lectin 4.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		AGCCTCTTCGCCATGGCCTAT	0.363													T	160714970	C	T	160714970	4	4	84	1	0	0	0	0	0	1	0	0	9099	740	26	2	2962	2	LY75	2	160714970	Nonsense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	471936	160714970	82484403	198	55741											
ITGB6	3694	broad.mit.edu	37	chr2	160993972	160993972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagccctttgtgtctcaCgcaggagaaattgtcacact	10	11	2	1	rs144967638		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:160993972C>T	uc002ubh.2	-	10	1649	c.1633G>A	c.(1633-1635)GTG>ATG	p.V545M	ITGB6_uc010fou.2_Missense_Mutation_p.V545M|ITGB6_uc010zcq.1_Missense_Mutation_p.V503M|ITGB6_uc010fov.1_Missense_Mutation_p.V545M	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6 precursor	545	Extracellular (Potential).|III.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3						TTGTGTCTCACGCAGGAGAAA	0.483													T	160993972	C	T	160993972	3	4	84	1	0	0	0	0	1	0	0	0	7899	536	19	1	757	1	ITGB6	2	160993972	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	279002	160993972	82205401	199	55742											
SLC4A10	57282	broad.mit.edu	37	chr2	162751204	162751204	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaaggtatttcatgatgttGcctataaagctaaagatcgt	8	5	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:162751204G>T	uc002ubx.3	+	11	1394	c.1210G>T	c.(1210-1212)GCC>TCC	p.A404S	SLC4A10_uc010fpa.1_Missense_Mutation_p.A416S|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.A374S|SLC4A10_uc010zcs.1_Missense_Mutation_p.A385S	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	404	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						TCATGATGTTGCCTATAAAGC	0.313													T	162751204	G	T	162751204	3	4	84	1	0	0	0	0	1	0	0	0	14651	1319	46	5	1337	5	SLC4A10	2	162751204	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1757232	162751204	80448169	200	55743											
SCN9A	6335	broad.mit.edu	37	chr2	167144965	167144965	+	Frame_Shift_Del	DEL	T	T	-													acctcagcttcttcttgctcTtttttaagacggtctaacat							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:167144965delT	uc010fpl.2	-	10	1637	c.1296delA	c.(1294-1296)AAAfs	p.K432fs	uc002udp.2_Intron|SCN9A_uc002udr.1_Frame_Shift_Del_p.K303fs|SCN9A_uc002uds.1_Frame_Shift_Del_p.K303fs|SCN9A_uc002udt.1_Frame_Shift_Del_p.K303fs	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	432						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTTCTTGCTCTTTTTTAAGAC	0.393													-	167144965	T	-	167144965	7	5	84	1	0	1	0	1	0	0	0	0	13925	1606	56	0	4709	0	SCN9A	2	167144965	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	4393761	167144965	76054408	201	55744											
SCN7A	6332	broad.mit.edu	37	chr2	167288839	167288839	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatcttacctctttgctgcCtccatcaccagacttactct	3	16	4	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:167288839C>A	uc002udu.1	-	15	2708	c.2581G>T	c.(2581-2583)GGC>TGC	p.G861C	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	861					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						TCTTTGCTGCCTCCATCACCA	0.403													A	167288839	C	A	167288839	3	1	84	1	0	0	0	0	1	0	0	0	13923	681	24	5	2511	5	SCN7A	2	167288839	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	143874	167288839	75910534	202	55745											
PPIG	9360	broad.mit.edu	37	chr2	170493131	170493131	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaacaaagtgaagaaaAgggccaaatctaaaagtagg	9	4	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:170493131A>G	uc002uez.2	+	14	1583	c.1363A>G	c.(1363-1365)AGG>GGG	p.R455G	PPIG_uc010fpx.2_Missense_Mutation_p.R440G|PPIG_uc010fpy.2_Missense_Mutation_p.R448G|PPIG_uc002ufb.2_Missense_Mutation_p.R455G|PPIG_uc002ufd.2_Missense_Mutation_p.R452G	NM_004792	NP_004783	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G	455					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|central_nervous_system(1)	3					L-Proline(DB00172)	AGTGAAGAAAAGGGCCAAATC	0.318													G	170493131	A	G	170493131	3	3	84	1	0	0	0	0	1	0	0	0	12324	63	3	3	1409	3	PPIG	2	170493131	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	3204292	170493131	72706242	203	55746											
MYO3B	140469	broad.mit.edu	37	chr2	171258116	171258116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgcggacgttcgagacGccatgtccaaagccctgtat	13	12	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:171258116G>A	uc002ufy.2	+	18	2187	c.2044G>A	c.(2044-2046)GCC>ACC	p.A682T	MYO3B_uc002ufv.2_Missense_Mutation_p.A669T|MYO3B_uc010fqb.1_Missense_Mutation_p.A669T|MYO3B_uc002ufz.2_Missense_Mutation_p.A682T|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	682	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						CGTTCGAGACGCCATGTCCAA	0.567													A	171258116	G	A	171258116	3	1	84	1	0	0	0	0	1	0	0	0	10077	1087	38	1	2114	1	MYO3B	2	171258116	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	764985	171258116	71941257	204	55747											
GAD1	2571	broad.mit.edu	37	chr2	171700573	171700573	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtttacatatgaaattgcAccagtgtttgtcctcatgga	9	7	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:171700573A>G	uc002ugi.2	+	7	1079	c.657A>G	c.(655-657)GCA>GCG	p.A219A		NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	219					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATGAAATTGCACCAGTGTTTG	0.368													G	171700573	A	G	171700573	2	3	84	1	0	0	0	0	0	0	0	1	6179	146	6	3		3	GAD1	2	171700573	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	442457	171700573	71498800	205	55748											
DLX2	1746	broad.mit.edu	37	chr2	172965365	172965365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgagtggggtgcagcagcGgcgccgtggcctgcaggtgt	19	10	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:172965365G>A	uc002uhn.2	-	3	1105	c.893C>T	c.(892-894)CCG>CTG	p.P298L		NM_004405	NP_004396	Q07687	DLX2_HUMAN	distal-less homeobox 2	298						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GTGCAGCAGCGGCGCCGTGGC	0.706													A	172965365	G	A	172965365	3	1	84	1	0	0	0	0	1	0	0	0	4571	1116	39	1	97	1	DLX2	2	172965365	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1264792	172965365	70234008	206	55749											
SCRN3	79634	broad.mit.edu	37	chr2	175263005	175263005	+	Splice_Site	DEL	A	A	-													catctgtataatttttagttAaaaaaaatggaacctttttc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:175263004_175263004TA>T	uc002uiq.3	+	2	90	c.-8_splice	c.e2-1		CIR1_uc002uim.3_5'Flank|CIR1_uc002uin.3_5'Flank|SCRN3_uc010zen.2_Intron|SCRN3_uc010zeo.2_Splice_Site|SCRN3_uc002uir.1_Splice_Site	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	Homo sapiens secernin 3 (SCRN3), transcript variant 1, mRNA.						proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AATTTTTAGTTAAAAAAAATG	0.279													-	175263005	A	-	175263005	8	5	84	1	0	1	0	1	0	0	1	0	13940	377	13	0		0	SCRN3	2	175263005	Splice_Site	DEL	A	TCGA-BR-8372-01A-11D-2340-08	2297640	175263005	67936368	207	55750											
CHRNA1	1134	broad.mit.edu	37	chr2	175622346	175622346	+	Frame_Shift_Del	DEL	T	T	-													cttttctgaaggaatgtgaaTttttttcacaccgccatagt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:175622346delT	uc002ujd.2	-	5	445	c.367delA	c.(367-369)ATTfs	p.I123fs	uc002uiw.2_Intron|CHRNA1_uc002uje.2_Frame_Shift_Del_p.I98fs|CHRNA1_uc002ujf.3_Frame_Shift_Del_p.I98fs	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	nicotinic cholinergic receptor alpha 1 isoform a	123	Extracellular.				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GGAATGTGAATTTTTTTCACA	0.443													-	175622346	T	-	175622346	7	5	84	1	0	1	0	1	0	0	0	0	3381	1493	52	0	1105	0	CHRNA1	2	175622346	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	359341	175622346	67577027	208	55751											
HOXD10	3236	broad.mit.edu	37	chr2	176981596	176981597	+	Frame_Shift_Ins	INS	-	-	T													agctctcctgctgctaatacINSttttttagtagattccttga							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:176981596_176981597insT	uc002ukj.2	+	1	105_106	c.35_36insT	c.(34-36)ACTfs	p.T12fs		NM_002148	NP_002139	P28358	HXD10_HUMAN	homeobox D10	12						nucleus	sequence-specific DNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GCTGCTAATACTTTTTTAGTAG	0.46													T	176981597	-	T	176981596	7	5	84	1	0	1	1	0	0	0	0	0	7319	565	20	0	37	0	HOXD10	2	176981596	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	1359250	176981596	66217777	209	55752	236	2									
HOXD10	3236	broad.mit.edu	37	chr2	176981597	176981598	+	Frame_Shift_Ins	INS	-	-	T													gctctcctgctgctaatactINStttttagtagattccttgat							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:176981596_176981597C>CT	uc002ukj.3	+	0	105_106	c.35_36C>CT	c.(34-36)actfs	p.T12fs		NM_002148	NP_002139	P28358	HXD10_HUMAN	Homo sapiens homeobox D10 (HOXD10), mRNA.	12						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GCTGCTAATACTTTTTTAGTAG	0.46													T	176981598	-	T	176981597	7	5	84	1	0	1	1	0	0	0	0	0	7319	1596	56	0	38	0	HOXD10	2	176981597	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	1	176981597	66217776	210	55753	236	2									
TTN	7273	broad.mit.edu	37	chr2	179398999	179398999	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttctgagatcgaattgcacCaccacaggagatccgggctg	11	12	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:179398999C>A	uc010zfg.1	-	307	94863	c.94639G>T	c.(94639-94641)GGT>TGT	p.G31547C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G25242C|TTN_uc010zfi.1_Missense_Mutation_p.G25175C|TTN_uc010zfj.1_Missense_Mutation_p.G25050C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32474							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGAATTGCACCACCACAGGAG	0.453													A	179398999	C	A	179398999	3	1	84	1	0	0	0	0	1	0	0	0	16732	594	21	5	5656	5	TTN	2	179398999	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2417402	179398999	63800374	211	55754											
TTN	7273	broad.mit.edu	37	chr2	179422693	179422693	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctagcacaacaatgttaaTgaaagctttggttgtaccac	8	8	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:179422693T>C	uc010zfg.1	-	277	79908	c.79684A>G	c.(79684-79686)ATT>GTT	p.I26562V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I20257V|TTN_uc010zfi.1_Missense_Mutation_p.I20190V|TTN_uc010zfj.1_Missense_Mutation_p.I20065V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27489							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAATGTTAATGAAAGCTTTG	0.448													C	179422693	T	C	179422693	3	2	84	1	0	0	0	0	1	0	0	0	16732	1464	51	3	20731	3	TTN	2	179422693	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	23694	179422693	63776680	212	55755											
TTN	7273	broad.mit.edu	37	chr2	179424438	179424438	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaatggtcagtgatgtAcgagagtctgtggtatcaac	11	6	4	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:179424438A>G	uc010zfg.1	-	275	78941	c.78717T>C	c.(78715-78717)CGT>CGC	p.R26239R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R19934R|TTN_uc010zfi.1_Silent_p.R19867R|TTN_uc010zfj.1_Silent_p.R19742R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27166							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGTGATGTACGAGAGTCTG	0.438													G	179424438	A	G	179424438	2	3	84	1	0	0	0	0	0	0	0	1	16732	378	14	3		3	TTN	2	179424438	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1745	179424438	63774935	213	55756											
TTN	7273	broad.mit.edu	37	chr2	179569069	179569069	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttggtacagaaaattggcAtgtcatggtgcaagtctggc	12	6	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:179569069A>G	uc010zfg.1	-	103	26520	c.26296T>C	c.(26296-26298)TGC>CGC	p.C8766R	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.C5427R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9693							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAAATTGGCATGTCATGGTG	0.418													G	179569069	A	G	179569069	3	3	84	1	0	0	0	0	1	0	0	0	16732	217	8	3	74529	3	TTN	2	179569069	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	144631	179569069	63630304	214	55757											
SESTD1	91404	broad.mit.edu	37	chr2	180008501	180008501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgagccattaaatcgacGctgctgtaattcggacaaca	9	10	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:180008501G>A	uc002uni.3	-	9	817	c.667C>T	c.(667-669)CGT>TGT	p.R223C		NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	223					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTAAATCGACGCTGCTGTAAT	0.373													A	180008501	G	A	180008501	3	1	84	1	0	0	0	0	1	0	0	0	14127	1087	38	1	1463	1	SESTD1	2	180008501	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	439432	180008501	63190872	215	55758											
NEUROD1	4760	broad.mit.edu	37	chr2	182543540	182543540	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccagcttggaggaccttgGggctgaggctcgcccatcag	15	12	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:182543540G>T	uc002uof.2	-	2	284	c.48C>A	c.(46-48)CCC>CCA	p.P16P	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	16					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GAGGACCTTGGGGCTGAGGCT	0.532													T	182543540	G	T	182543540	2	4	84	1	0	0	0	0	0	0	0	1	10348	1219	43	5		5	NEUROD1	2	182543540	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	2535039	182543540	60655833	216	55759											
SSFA2	6744	broad.mit.edu	37	chr2	182786778	182786778	+	Frame_Shift_Del	DEL	T	T	-													tggagaaagctcagaatctgTtttttcccaagcaacatcag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:182786778delT	uc002uoi.2	+	16	3636	c.3314delT	c.(3313-3315)GTTfs	p.V1105fs	SSFA2_uc002uoh.2_Frame_Shift_Del_p.V1105fs|SSFA2_uc002uoj.2_Frame_Shift_Del_p.V1083fs|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Frame_Shift_Del_p.V930fs|SSFA2_uc002uol.2_Frame_Shift_Del_p.V952fs|SSFA2_uc002uom.2_Frame_Shift_Del_p.V569fs	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	1105						cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCAGAATCTGTTTTTTCCCAA	0.458													-	182786778	T	-	182786778	7	5	84	1	0	1	0	1	0	0	0	0	15182	1725	60	0	3376	0	SSFA2	2	182786778	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	243238	182786778	60412595	217	55760											
FRZB	2487	broad.mit.edu	37	chr2	183730945	183730945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccctgccgggcccgctcGcacacagacttacagggctt	11	17	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:183730945G>A	uc002upa.1	-	1	554	c.336C>T	c.(334-336)TGC>TGT	p.C112C		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	frizzled-related protein precursor	112	FZ.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GGGCCCGCTCGCACACAGACT	0.627													A	183730945	G	A	183730945	2	1	84	1	0	0	0	0	0	0	0	1	6065	1079	38	1		1	FRZB	2	183730945	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	944167	183730945	59468428	218	55761											
ZC3H15	55854	broad.mit.edu	37	chr2	187370510	187370512	+	In_Frame_Del	DEL	ATG	ATG	-													atttcgtcctgaactggtcaAtgatgatgatgaggaagcag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:187370509_187370511AATG>A	uc002upo.3	+	7	1132_1134	c.907_909AATG>A	c.(907-909)aat>A	p.N303del	ZC3H15_uc021vts.1_5'Flank	NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	Homo sapiens zinc finger CCCH-type containing 15 (ZC3H15), mRNA.	303						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TGAACTGGTCAATGATGATGATG	0.414													-	187370512	ATG	-	187370510	7	5	84	1	0	1	0	1	0	0	0	0	17564	101	4	0	938	0	ZC3H15	2	187370510	In_Frame_Del	DEL	ATG	TCGA-BR-8372-01A-11D-2340-08	3639565	187370510	55828863	219	55762											
SLC40A1	30061	broad.mit.edu	37	chr2	190428721	190428721	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtccctgagtgtaggcgtAccctgtggtgatgcagtcaa	13	10	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:190428721A>G	uc002uqp.3	-	7	1342	c.991T>C	c.(991-993)TAC>CAC	p.Y331H		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated	331					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GTGTAGGCGTACCCTGTGGTG	0.488													G	190428721	A	G	190428721	3	3	84	1	0	0	0	0	1	0	0	0	14628	391	14	3	732	3	SLC40A1	2	190428721	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	3058211	190428721	52770652	220	55763											
MFSD6	54842	broad.mit.edu	37	chr2	191301912	191301912	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccatggccttgatcgttgCcactcagttccggttccgct	10	14	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:191301912C>A	uc002urz.2	+	3	1481	c.1157C>A	c.(1156-1158)GCC>GAC	p.A386D		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	386	Helical; (Potential).				transmembrane transport	integral to membrane				ovary(2)	2						TTGATCGTTGCCACTCAGTTC	0.507													A	191301912	C	A	191301912	3	1	84	1	0	0	0	0	1	0	0	0	9535	739	26	5	1159	5	MFSD6	2	191301912	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	873191	191301912	51897461	221	55764											
STAT1	6772	broad.mit.edu	37	chr2	191872290	191872290	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatgagaaaaaagtaccTgattaaatctctgggcgttt	8	6	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:191872290T>C	uc002usj.2	-	5	759	c.371A>G	c.(370-372)CAG>CGG	p.Q124R	STAT1_uc010fse.1_Missense_Mutation_p.Q124R|STAT1_uc002usk.2_Missense_Mutation_p.Q124R|STAT1_uc002usl.2_Missense_Mutation_p.Q126R|STAT1_uc010fsf.1_5'UTR	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	124					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AAAAAGTACCTGATTAAATCT	0.328													C	191872290	T	C	191872290	3	2	84	1	0	0	0	0	1	0	0	0	15263	1594	55	3	1969	3	STAT1	2	191872290	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	570378	191872290	51327083	222	55765											
STK17B	9262	broad.mit.edu	37	chr2	197021202	197021202	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcacttgtattttcatagAcctcatgaagattaataaca	4	7	3	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:197021202A>G	uc002utk.2	-	3	620	c.296T>C	c.(295-297)GTC>GCC	p.V99A	STK17B_uc010fsh.2_Missense_Mutation_p.V99A	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	99	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)			ATTTTCATAGACCTCATGAAG	0.328													G	197021202	A	G	197021202	3	3	84	1	0	0	0	0	1	0	0	0	15290	275	10	3	846	3	STK17B	2	197021202	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	5148912	197021202	46178171	223	55766											
PARD3B	117583	broad.mit.edu	37	chr2	206165331	206165331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtctgcagactgcagtgGccgaggtcaggaagaatgac	15	8	2	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:206165331G>A	uc002var.1	+	17	2470	c.2263G>A	c.(2263-2265)GCC>ACC	p.A755T	PARD3B_uc010fub.1_Missense_Mutation_p.A755T|PARD3B_uc002vao.1_Missense_Mutation_p.A755T|PARD3B_uc002vap.1_Missense_Mutation_p.A693T|PARD3B_uc002vaq.1_Intron	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	755					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GACTGCAGTGGCCGAGGTCAG	0.517													A	206165331	G	A	206165331	3	1	84	1	0	0	0	0	1	0	0	0	11444	1203	42	2	2329	2	PARD3B	2	206165331	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	9144129	206165331	37034042	224	55767											
PIKFYVE	200576	broad.mit.edu	37	chr2	209195290	209195290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttctgtgatacccccatgGtacatcatattcggcgcttt	8	11	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:209195290G>A	uc002vcz.2	+	23	3993	c.3835G>A	c.(3835-3837)GTA>ATA	p.V1279I	PIKFYVE_uc002vcy.1_Missense_Mutation_p.V1223I	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1279					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						TACCCCCATGGTACATCATAT	0.438													A	209195290	G	A	209195290	3	1	84	1	0	0	0	0	1	0	0	0	11924	1261	44	4	3932	4	PIKFYVE	2	209195290	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	3029959	209195290	34004083	225	55768											
ERBB4	2066	broad.mit.edu	37	chr2	212251706	212251706	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctactgtcctcttggacaTggggtgccactggcttgcgt	13	11	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:212251706T>C	uc002veg.1	-	27	3451	c.3353A>G	c.(3352-3354)CAT>CGT	p.H1118R	ERBB4_uc002veh.1_Missense_Mutation_p.H1102R|ERBB4_uc010zji.1_Missense_Mutation_p.H1108R|ERBB4_uc010zjj.1_Missense_Mutation_p.H1092R	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1118	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTCTTGGACATGGGGTGCCAC	0.557										TSP Lung(8;0.080)			C	212251706	T	C	212251706	3	2	84	1	0	0	0	0	1	0	0	0	5209	1464	51	3	581	3	ERBB4	2	212251706	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	3056416	212251706	30947667	226	55769											
IKZF2	22807	broad.mit.edu	37	chr2	213872632	213872632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataactggggccacttcagCgattgtgcttggcgggtgct	14	9	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:213872632C>T	uc002vem.2	-	8	1202	c.1033G>A	c.(1033-1035)GCT>ACT	p.A345T	IKZF2_uc010fuu.2_Missense_Mutation_p.A200T|IKZF2_uc002vej.2_Missense_Mutation_p.A292T|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.A271T|IKZF2_uc002vel.2_Missense_Mutation_p.A266T|IKZF2_uc010fuw.2_Missense_Mutation_p.A119T|IKZF2_uc010fux.2_Missense_Mutation_p.A119T|IKZF2_uc010fuy.2_Missense_Mutation_p.A273T|IKZF2_uc002ven.2_Missense_Mutation_p.A319T|IKZF2_uc002vei.2_Missense_Mutation_p.A123T	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	helios isoform 1	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GCCACTTCAGCGATTGTGCTT	0.478													T	213872632	C	T	213872632	3	4	84	1	0	0	0	0	1	0	0	0	7615	768	27	1	551	1	IKZF2	2	213872632	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1620926	213872632	29326741	227	55770											
TNS1	7145	broad.mit.edu	37	chr2	218762539	218762539	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaggtagttgcctccatgTttggacttgagcatctgcgc	11	11	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:218762539T>C	uc002vgt.2	-	6	548	c.150A>G	c.(148-150)AAA>AAG	p.K50K	TNS1_uc002vgr.2_Silent_p.K50K|TNS1_uc002vgs.2_Silent_p.K50K|TNS1_uc010zjv.1_Silent_p.K50K|TNS1_uc010fvj.1_Silent_p.K118K|TNS1_uc010fvk.1_Silent_p.K175K|TNS1_uc002vgu.3_Silent_p.K81K|TNS1_uc002vgv.1_RNA	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	50	Phosphatase tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGCCTCCATGTTTGGACTTGA	0.562													C	218762539	T	C	218762539	2	2	84	1	0	0	0	0	0	0	0	1	16340	1722	60	3		3	TNS1	2	218762539	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	4889907	218762539	24436834	228	55771											
CXCR1	3577	broad.mit.edu	37	chr2	219029127	219029127	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctcctggatcacctgggTcctcatgagggtgtctgcca	12	13	4	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:219029127T>C	uc002vhc.2	-	2	927	c.808A>G	c.(808-810)ACC>GCC	p.T270A		NM_000634	NP_000625	P25024	CXCR1_HUMAN	interleukin 8 receptor alpha	270	Extracellular (Potential).				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			lung(2)	2						ATCACCTGGGTCCTCATGAGG	0.587													C	219029127	T	C	219029127	3	2	84	1	0	0	0	0	1	0	0	0	4090	1667	58	3	248	3	CXCR1	2	219029127	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	266588	219029127	24170246	229	55772											
USP37	57695	broad.mit.edu	37	chr2	219411727	219411727	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattccacttcctgctacagTcttaatcgatcctctacccg	4	15	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:219411727T>C	uc002vie.2	-	7	970	c.517A>G	c.(517-519)ACT>GCT	p.T173A	USP37_uc010fvs.1_Missense_Mutation_p.T173A|USP37_uc010zkf.1_Missense_Mutation_p.T173A|USP37_uc002vif.2_Missense_Mutation_p.T173A|USP37_uc002vig.2_Missense_Mutation_p.T101A|USP37_uc010zkg.1_Missense_Mutation_p.T173A	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	173					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CCTGCTACAGTCTTAATCGAT	0.393													C	219411727	T	C	219411727	3	2	84	1	0	0	0	0	1	0	0	0	17065	1667	58	3	2502	3	USP37	2	219411727	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	382600	219411727	23787646	230	55773											
RQCD1	9125	broad.mit.edu	37	chr2	219445338	219445338	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagatctatcagtggatcAatgagctgtccagtcctgag	10	8	3	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:219445338A>G	uc010zkh.1	+	2	79	c.79A>G	c.(79-81)AAT>GAT	p.N27D	RQCD1_uc002vih.1_Missense_Mutation_p.N27D|RQCD1_uc010zki.1_Missense_Mutation_p.N27D	NM_005444	NP_005435	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog	27					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(1)|skin(1)	2		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAGTGGATCAATGAGCTGTC	0.428													G	219445338	A	G	219445338	3	3	84	1	0	0	0	0	1	0	0	0	13670	130	5	3	85	3	RQCD1	2	219445338	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	33611	219445338	23754035	231	55774											
ZNF142	7701	broad.mit.edu	37	chr2	219508243	219508243	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagggactgggtcaaggtggTgcttcttaggggcctccgtg	18	8	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:219508243T>C	uc002vin.2	-	8	3432	c.2996A>G	c.(2995-2997)CAC>CGC	p.H999R	ZNF142_uc002vil.2_Missense_Mutation_p.H960R|ZNF142_uc010fvt.2_Missense_Mutation_p.H836R|ZNF142_uc002vim.2_Missense_Mutation_p.H836R	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	999					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GTCAAGGTGGTGCTTCTTAGG	0.592													C	219508243	T	C	219508243	3	2	84	1	0	0	0	0	1	0	0	0	17728	1696	59	3	2079	3	ZNF142	2	219508243	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	62905	219508243	23691130	232	55775											
DNAJB2	3300	broad.mit.edu	37	chr2	220146725	220146725	+	Frame_Shift_Del	DEL	C	C	-													ttcaccttcaccttccgcagCcccgaggaggtcttccggga							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:220146724_220146724GC>G	uc002vkx.1	+	4	530	c.293_293GC>G	c.(292-294)agcfs	p.S98fs	DNAJB2_uc010zla.1_Frame_Shift_Del_p.S98fs|DNAJB2_uc002vkw.1_Frame_Shift_Del_p.S98fs|DNAJB2_uc010zlb.1_5'Flank	NM_006736	NP_006727	P25686	DNJB2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 2 (DNAJB2), transcript variant 2, mRNA.	98					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	Hsp70 protein binding|heat shock protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTTCCGCAGCCCCGAGGAG	0.587													-	220146725	C	-	220146725	7	5	84	1	0	1	0	1	0	0	0	0	4620	738	26	0	308	0	DNAJB2	2	220146725	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	638482	220146725	23052648	233	55776											
IRS1	3667	broad.mit.edu	37	chr2	227660074	227660074	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgctaccgccaccGccccctactgctgcccccgc	8	23	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:227660074G>A	uc002voh.3	-	1	3433	c.3381C>T	c.(3379-3381)GGC>GGT	p.G1127G		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	1127					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TACCGCCACCGCCCCCTACTG	0.652													A	227660074	G	A	227660074	2	1	84	1	0	0	0	0	0	0	0	1	7840	1074	38	1		1	IRS1	2	227660074	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	7513349	227660074	15539299	234	55777											
COL4A4	1286	broad.mit.edu	37	chr2	227920728	227920728	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggattcctgggaggcctggGggaccatgtgccccaggccg	18	12	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:227920728G>A	uc010zlt.1	-	30	3303	c.2649C>T	c.(2647-2649)CCC>CCT	p.P883P		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	883	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGAGGCCTGGGGGACCATGTG	0.627													A	227920728	G	A	227920728	2	1	84	1	0	0	0	0	0	0	0	1	3693	1219	43	4		4	COL4A4	2	227920728	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	260654	227920728	15278645	235	55778											
ARMC9	80210	broad.mit.edu	37	chr2	232091513	232091513	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggacaaagtaacaaaggTaaatcatctagatttaaatt	6	4	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:232091513T>C	uc002vrq.3	+	7	734	c.622_splice	c.e7+2	p.E208_splice	ARMC9_uc002vrp.3_Splice_Site_p.E208_splice	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9								binding			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GTAACAAAGGTAAATCATCTA	0.403													C	232091513	T	C	232091513	5	2	84	1	0	0	0	0	0	0	1	0	958	1652	57	3	646	3	ARMC9	2	232091513	Splice_Site	SNP	T	TCGA-BR-8372-01A-11D-2340-08	4170785	232091513	11107860	236	55779											
NCL	4691	broad.mit.edu	37	chr2	232325259	232325259	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttctttcgttttccaggTgcttctttgacaggctctgg	9	11	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:232325259T>C	uc002vru.2	-	5	969	c.828A>G	c.(826-828)GCA>GCG	p.A276A	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	nucleolin	276					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			ovary(2)|pancreas(1)	3		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		GTTTTCCAGGTGCTTCTTTGA	0.433													C	232325259	T	C	232325259	2	2	84	1	0	0	0	0	0	0	0	1	10226	1683	59	3		3	NCL	2	232325259	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	233746	232325259	10874114	237	55780											
DIS3L2	129563	broad.mit.edu	37	chr2	233199154	233199154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaacgaccgccgcatggCgtccaagcgcgtgcaggagc	14	14	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:233199154C>T	uc010fxz.2	+	18	2510	c.2234C>T	c.(2233-2235)GCG>GTG	p.A745V	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA|DIS3L2_uc002vsp.1_5'Flank	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	745							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CGCCGCATGGCGTCCAAGCGC	0.622													T	233199154	C	T	233199154	3	4	84	1	0	0	0	0	1	0	0	0	4537	768	27	1	2300	1	DIS3L2	2	233199154	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	873895	233199154	10000219	238	55781											
ALPP	250	broad.mit.edu	37	chr2	233244487	233244487	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttagggaagtcagtgggAgtggtaaccaccacacgagt	13	10	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:233244487A>C	uc002vsq.2	+	5	663	c.498A>C	c.(496-498)GGA>GGC	p.G166G	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	166						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		AGTCAGTGGGAGTGGTAACCA	0.632													C	233244487	A	C	233244487	2	2	84	1	0	0	0	0	0	0	0	1	548	291	11	5		5	ALPP	2	233244487	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	45333	233244487	9954886	239	55782											
COL6A3	1293	broad.mit.edu	37	chr2	238249716	238249716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccatgtcgatgtccacatCgctccctgccgctctcctgt	8	17	1	0	rs145884404		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:238249716C>T	uc002vwl.2	-	38	8128	c.7843G>A	c.(7843-7845)GAT>AAT	p.D2615N	COL6A3_uc002vwo.2_Missense_Mutation_p.D2409N|COL6A3_uc010znj.1_Missense_Mutation_p.D2008N|COL6A3_uc002vwj.2_5'UTR	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2615	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ATGTCCACATCGCTCCCTGCC	0.522													T	238249716	C	T	238249716	3	4	84	1	0	0	0	0	1	0	0	0	3701	884	31	1	1718	1	COL6A3	2	238249716	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	5005229	238249716	4949657	240	55783											
HDAC4	9759	broad.mit.edu	37	chr2	240033383	240033383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcctcagctggtggatcCgctgctgctccagcaggagg	14	12	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:240033383C>T	uc002vyk.3	-	14	2594	c.1802G>A	c.(1801-1803)CGG>CAG	p.R601Q	HDAC4_uc010fyz.1_Missense_Mutation_p.R596Q|HDAC4_uc010zoa.1_Missense_Mutation_p.R601Q|HDAC4_uc010fza.2_Missense_Mutation_p.R606Q|HDAC4_uc010fyy.2_Missense_Mutation_p.R558Q|HDAC4_uc010znz.1_Missense_Mutation_p.R484Q	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	601					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CTGGTGGATCCGCTGCTGCTC	0.697													T	240033383	C	T	240033383	3	4	84	1	0	0	0	0	1	0	0	0	7009	652	23	1	1508	1	HDAC4	2	240033383	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1783667	240033383	3165990	241	55784											
ANKMY1	51281	broad.mit.edu	37	chr2	241468685	241468685	+	Frame_Shift_Del	DEL	A	A	-													gaaaccgcttatagtcatagAaaaagggatcctgtccctcc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:241468684_241468684GA>G	uc010fzd.1	-	4	848	c.723_723TC>C	c.(721-723)ttcfs	p.F241fs	ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vyz.1_Frame_Shift_Del_p.F152fs|ANKMY1_uc002vza.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.2_Intron|ANKMY1_uc002vze.3_Intron	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	152							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TATAGTCATAGAAAAAGGGAT	0.512													-	241468685	A	-	241468685	7	5	84	1	0	1	0	1	0	0	0	0	634	246	9	0	2426	0	ANKMY1	2	241468685	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	1435302	241468685	1730688	242	55785											
C2orf54	79919	broad.mit.edu	37	chr2	241835242	241835242	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccacgggagtagtccacgAtgaagcgggggtccagggca	18	10	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:241835242A>C	uc002wae.3	-	1	332	c.173T>G	c.(172-174)ATC>AGC	p.I58S		NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	hypothetical protein LOC79919 isoform 1	58											0		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GTAGTCCACGATGAAGCGGGG	0.682													C	241835242	A	C	241835242	3	2	84	1	0	0	0	0	1	0	0	0	2175	333	12	5	1204	5	C2orf54	2	241835242	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	366557	241835242	1364131	243	55786											
SNED1	25992	broad.mit.edu	37	chr2	241969712	241969712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcccaggtgaacaacaaCgggatcatctccttcctgaa	8	14	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:241969712C>T	uc002wah.1	+	2	225	c.225C>T	c.(223-225)AAC>AAT	p.N75N		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	75					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGAACAACAACGGGATCATCT	0.647													T	241969712	C	T	241969712	2	4	84	1	0	0	0	0	0	0	0	1	14845	535	19	1		1	SNED1	2	241969712	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	134470	241969712	1229661	244	55787											
TRNT1	51095	broad.mit.edu	37	chr3	3188232	3188232	+	Frame_Shift_Del	DEL	A	A	-													aaaggatttgggtggaactgAaaaaaattcttgttggtaac							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:3188232delA	uc003bpp.3	+	6	829	c.727delA	c.(727-729)AAAfs	p.K243fs	TRNT1_uc010hbv.2_Frame_Shift_Del_p.K243fs|TRNT1_uc003bpm.2_RNA	NM_182916	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	243					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding				0				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		GGTGGAACTGAAAAAAATTCT	0.383													-	3188232	A	-	3188232	7	5	84	1	0	1	0	1	0	0	0	0	16570	247	9	0	745	0	TRNT1	3	3188232	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08		3188232	194834198	245	55788											
EDEM1	9695	broad.mit.edu	37	chr3	5244703	5244703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caataatgagacatgcacagCgggagccggttccctcctgg	12	12	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:5244703C>T	uc003bqi.2	+	5	1043	c.911C>T	c.(910-912)GCG>GTG	p.A304V	EDEM1_uc011asz.1_Missense_Mutation_p.A82V|EDEM1_uc003bqh.2_Missense_Mutation_p.A304V	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like	304	Lumenal (Potential).				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			ovary(2)|breast(1)	3				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		ACATGCACAGCGGGAGCCGGT	0.527													T	5244703	C	T	5244703	3	4	84	1	0	0	0	0	1	0	0	0	4911	768	27	1	929	1	EDEM1	3	5244703	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2056471	5244703	192777727	246	55789											
LHFPL4	375323	broad.mit.edu	37	chr3	9547804	9547804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccccagggagtacttccCcgtcttggccccacacatgt	9	17	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:9547804C>T	uc003bry.2	-	3	776	c.490G>A	c.(490-492)GGG>AGG	p.G164R		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	164						integral to membrane				ovary(2)|skin(1)	3	Medulloblastoma(99;0.227)					GAGTACTTCCCCGTCTTGGCC	0.617													T	9547804	C	T	9547804	3	4	84	1	0	0	0	0	1	0	0	0	8767	623	22	4	261	4	LHFPL4	3	9547804	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	4303101	9547804	188474626	247	55790											
FANCD2	2177	broad.mit.edu	37	chr3	10084268	10084268	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagttggtgatggataagtTgtcgtctattagattggagg	14	4	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:10084268T>C	uc003buw.2	+	11	887	c.809T>C	c.(808-810)TTG>TCG	p.L270S	FANCD2_uc003bux.1_Missense_Mutation_p.L270S|FANCD2_uc003buy.1_Missense_Mutation_p.L270S	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	270	Interaction with FANCE.|Interaction with BRCA2.				DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ATGGATAAGTTGTCGTCTATT	0.358			D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				C	10084268	T	C	10084268	3	2	84	1	0	0	0	0	1	0	0	0	5665	1821	63	3	847	3	FANCD2	3	10084268	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	536464	10084268	187938162	248	55791											
CAPN7	23473	broad.mit.edu	37	chr3	15283047	15283047	+	Frame_Shift_Del	DEL	G	G	-													ctggaggtgcagtgtccacaGgggggtgctgcagtttgggt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:15283046_15283046AG>A	uc003bzn.3	+	14	2009	c.1739_1739AG>A	c.(1738-1740)cagfs	p.Q580fs		NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	Homo sapiens calpain 7 (CAPN7), mRNA.	580	Domain III.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						CAGTGTCCACAGGGGGGTGCT	0.428													-	15283047	G	-	15283047	7	5	84	1	0	1	0	1	0	0	0	0	2631	991	35	0	1798	0	CAPN7	3	15283047	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	5198779	15283047	182739383	249	55792											
DAZL	1618	broad.mit.edu	37	chr3	16638359	16638359	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgtggtggaggaggatgAttaaaaaccaaaggacgtgg	15	4	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:16638359A>G	uc003cbb.2	-	6	690	c.396T>C	c.(394-396)AAT>AAC	p.N132N	DAZL_uc003cba.2_Silent_p.N152N	NM_001351	NP_001342	Q92904	DAZL_HUMAN	deleted in azoospermia-like	132	Homodimerization (By similarity).				germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding|translation activator activity				0						GAGGAGGATGATTAAAAACCA	0.378													G	16638359	A	G	16638359	2	3	84	1	0	0	0	0	0	0	0	1	4246	330	12	3		3	DAZL	3	16638359	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1355312	16638359	181384071	250	55793											
ZNF385D	79750	broad.mit.edu	37	chr3	21467097	21467097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctttgcctttcactcctgCcctaggaaaggctttgatag	8	12	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:21467097C>T	uc003cce.2	-	6	1147	c.739G>A	c.(739-741)GCA>ACA	p.A247T		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	247						nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|skin(2)|ovary(1)	5						TTCACTCCTGCCCTAGGAAAG	0.398													T	21467097	C	T	21467097	3	4	84	1	0	0	0	0	1	0	0	0	17875	739	26	2	460	2	ZNF385D	3	21467097	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	4828738	21467097	176555333	251	55794											
SLC4A7	9497	broad.mit.edu	37	chr3	27427494	27427494	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggtccatgagtttgcgCacaaacactaatgcaagaac	8	11	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:27427494C>T	uc003cdv.2	-	23	3425	c.3354G>A	c.(3352-3354)GTG>GTA	p.V1118V	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Silent_p.V999V|SLC4A7_uc011aww.1_Silent_p.V1127V|SLC4A7_uc011awx.1_Silent_p.V1114V|SLC4A7_uc011awy.1_Silent_p.V1110V|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Silent_p.V999V|SLC4A7_uc011axb.1_Silent_p.V1114V|SLC4A7_uc010hfl.2_Silent_p.V668V|SLC4A7_uc003cdw.2_Silent_p.V994V	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	1118	Cytoplasmic (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						TGAGTTTGCGCACAAACACTA	0.284													T	27427494	C	T	27427494	2	4	84	1	0	0	0	0	0	0	0	1	14658	697	25	2		2	SLC4A7	3	27427494	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	5960397	27427494	170594936	252	55795											
OSBPL10	114884	broad.mit.edu	37	chr3	31774766	31774766	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctctggctctggctgtgAggtttgttcgtcttcagcag	12	10	4	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:31774766A>C	uc003cev.2	-	7	1459	c.1078T>G	c.(1078-1080)TCA>GCA	p.S360A	OSBPL10_uc003ceu.1_Missense_Mutation_p.S117A|OSBPL10_uc011axf.1_Missense_Mutation_p.S296A	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	360					lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)		TCTGGCTGTGAGGTTTGTTCG	0.453													C	31774766	A	C	31774766	3	2	84	1	0	0	0	0	1	0	0	0	11275	304	11	5	1244	5	OSBPL10	3	31774766	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	4347272	31774766	166247664	253	55796											
ITGA9	3680	broad.mit.edu	37	chr3	37567542	37567542	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgttggagccttcatgtcCgacagcgtggttcttctcag	11	11	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:37567542C>T	uc003chd.2	+	13	1406	c.1353C>T	c.(1351-1353)TCC>TCT	p.S451S	ITGA9_uc003chc.2_Silent_p.S451S	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	451	Extracellular (Potential).|FG-GAP 7.				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CCTTCATGTCCGACAGCGTGG	0.522													T	37567542	C	T	37567542	2	4	84	1	0	0	0	0	0	0	0	1	7883	639	23	1		1	ITGA9	3	37567542	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	5792776	37567542	160454888	254	55797											
SCN11A	11280	broad.mit.edu	37	chr3	38966983	38966983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagtttgatggtgattcctGgaatatatgacacaatccta	8	6	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:38966983G>A	uc011ays.1	-	5	834	c.635C>T	c.(634-636)CCA>CTA	p.P212L		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	212	Helical; Name=S3 of repeat I; (By similarity).|I.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGTGATTCCTGGAATATATGA	0.468													A	38966983	G	A	38966983	3	1	84	1	0	0	0	0	1	0	0	0	13913	1348	47	4	4828	4	SCN11A	3	38966983	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1399441	38966983	159055447	255	55798											
TGM4	7047	broad.mit.edu	37	chr3	44943294	44943294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcatttcagtgctgagagCgttgggcatcccagcacgca	12	11	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:44943294C>T	uc003coc.3	+	8	915	c.842C>T	c.(841-843)GCG>GTG	p.A281V		NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	281					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GTGCTGAGAGCGTTGGGCATC	0.582													T	44943294	C	T	44943294	3	4	84	1	0	0	0	0	1	0	0	0	15829	768	27	1	872	1	TGM4	3	44943294	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	5976311	44943294	153079136	256	55799											
LARS2	23395	broad.mit.edu	37	chr3	45554625	45554625	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctgtcatctttcctcAgggagccttttcataagctg	7	11	4	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:45554625A>C	uc003cop.1	+	16	1946	c.1761_splice	c.e16-2	p.R587_splice	LARS2_uc010hit.1_Splice_Site_p.R544_splice	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial						leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	ATCTTTCCTCAGGGAGCCTTT	0.522													C	45554625	A	C	45554625	5	2	84	1	0	0	0	0	0	0	1	0	8635	202	7	5	1813	5	LARS2	3	45554625	Splice_Site	SNP	A	TCGA-BR-8372-01A-11D-2340-08	611331	45554625	152467805	257	55800											
SETD2	29072	broad.mit.edu	37	chr3	47098830	47098830	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagagtcatagggcagtggTgatgtcattcccaggttctg	14	7	3	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:47098830T>C	uc003cqs.2	-	15	6497	c.6444A>G	c.(6442-6444)TCA>TCG	p.S2148S	SETD2_uc003cqv.2_Silent_p.S2215S|SETD2_uc003cqt.1_RNA	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2148	Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGGGCAGTGGTGATGTCATTC	0.517			N|F|S|Mis		clear cell renal carcinoma								C	47098830	T	C	47098830	2	2	84	1	0	0	0	0	0	0	0	1	14131	1683	59	3		3	SETD2	3	47098830	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1544205	47098830	150923600	258	55801											
PTPN23	25930	broad.mit.edu	37	chr3	47454481	47454482	+	Frame_Shift_Ins	INS	-	-	T													agcccccagctcggggccccINScctcctcctccctggaattg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:47454481_47454482insT	uc003crf.1	+	25	4813_4814	c.4717_4718insT	c.(4717-4719)CCCfs	p.P1573fs	PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Frame_Shift_Ins_p.P1443fs|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1573	Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCGGGGCCCCCCTCCTCCTCC	0.649													T	47454482	-	T	47454481	7	5	84	1	0	1	1	0	0	0	0	0	12788	623	22	0	4815	0	PTPN23	3	47454481	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	355651	47454481	150567949	259	55802	237	2									
PTPN23	25930	broad.mit.edu	37	chr3	47454482	47454483	+	Frame_Shift_Ins	INS	-	-	T													gcccccagctcggggcccccINSctcctcctccctggaattgc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:47454481_47454482C>CT	uc003crf.1	+	24	4813_4814	c.4717_4718C>CT	c.(4717-4719)cccfs	p.P1573fs	PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Frame_Shift_Ins_p.P1443fs|BC067356_uc003cri.3_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	1573	Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCGGGGCCCCCCTCCTCCTCC	0.649													T	47454483	-	T	47454482	7	5	84	1	0	1	1	0	0	0	0	0	12788	623	22	0	4816	0	PTPN23	3	47454482	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	1	47454482	150567948	260	55803	237	2									
SMARCC1	6599	broad.mit.edu	37	chr3	47716999	47716999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttggagtaaatgtcagtaCggagaccaaagttctgcaaa	10	7	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:47716999C>T	uc003crq.2	-	18	1923	c.1805G>A	c.(1804-1806)CGT>CAT	p.R602H	SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.R493H	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	602					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		AATGTCAGTACGGAGACCAAA	0.363													T	47716999	C	T	47716999	3	4	84	1	0	0	0	0	1	0	0	0	14775	536	19	1	1556	1	SMARCC1	3	47716999	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	262517	47716999	150305431	261	55804											
DHX30	22907	broad.mit.edu	37	chr3	47887826	47887826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtctgctagaactgtggCggcggcgagggccggtctgg	19	9	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:47887826C>T	uc003cru.2	+	11	1690	c.1264C>T	c.(1264-1266)CGG>TGG	p.R422W	DHX30_uc003crt.2_Missense_Mutation_p.R383W	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	422						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGAACTGTGGCGGCGGCGAGG	0.632													T	47887826	C	T	47887826	3	4	84	1	0	0	0	0	1	0	0	0	4504	759	27	1	1309	1	DHX30	3	47887826	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	170827	47887826	150134604	262	55805											
ATRIP	84126	broad.mit.edu	37	chr3	48501288	48501288	+	Frame_Shift_Del	DEL	C	C	-													ttctgagtctcctgctggcaCccccctgcagccaccagggt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:48501287_48501287AC>A	uc003ctf.1	+	6	1059	c.1027_1027AC>A	c.(1027-1029)accfs	p.T343fs	ATRIP_uc011bbj.1_Frame_Shift_Del_p.T216fs|ATRIP_uc003ctg.1_Frame_Shift_Del_p.T343fs|TREX1_uc010hjy.3_5'UTR	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	Homo sapiens ATR interacting protein (ATRIP), transcript variant 1, mRNA.	343				T -> A (in Ref. 2; BAF84257).	DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCTGCTGGCACCCCCCTGCA	0.532								Other conserved DNA damage response genes					-	48501288	C	-	48501288	7	5	84	1	0	1	0	1	0	0	0	0	1205	507	18	0	1054	0	ATRIP	3	48501288	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	613462	48501288	149521142	263	55806											
CELSR3	1951	broad.mit.edu	37	chr3	48694142	48694142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctcaccggtgaagcgcGggcggcagacgcacgtgtag	16	13	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:48694142G>A	uc003cul.2	-	2	4669	c.4388C>T	c.(4387-4389)CCG>CTG	p.P1463L	CELSR3_uc003cuf.1_Missense_Mutation_p.P1533L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1463	Extracellular (Potential).|EGF-like 2; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTGAAGCGCGGGCGGCAGAC	0.687													A	48694142	G	A	48694142	3	1	84	1	0	0	0	0	1	0	0	0	3223	1116	39	1	5686	1	CELSR3	3	48694142	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	192854	48694142	149328288	264	55807											
P4HTM	54681	broad.mit.edu	37	chr3	49042356	49042356	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcgagccgctgcaggttgTtcgatatggtgaggggggcc	18	9	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:49042356T>C	uc003cvg.2	+	6	1299	c.950T>C	c.(949-951)GTT>GCT	p.V317A	P4HTM_uc003cvh.2_Missense_Mutation_p.V317A|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN	hypoxia-inducible factor prolyl 4-hydroxylase	317	Lumenal (Potential).|Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)|pancreas(1)	2					Vitamin C(DB00126)	CTGCAGGTTGTTCGATATGGT	0.637													C	49042356	T	C	49042356	3	2	84	1	0	0	0	0	1	0	0	0	11360	1725	60	3	972	3	P4HTM	3	49042356	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	348214	49042356	148980074	265	55808											
P4HTM	54681	broad.mit.edu	37	chr3	49042445	49042445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcccataccaagctggtaGccaacgagtctgtacccttc	8	15	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:49042445G>A	uc003cvg.2	+	6	1388	c.1039G>A	c.(1039-1041)GCC>ACC	p.A347T	P4HTM_uc003cvh.2_Missense_Mutation_p.A347T|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN	hypoxia-inducible factor prolyl 4-hydroxylase	347	Lumenal (Potential).|Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)|pancreas(1)	2					Vitamin C(DB00126)	CAAGCTGGTAGCCAACGAGTC	0.587													A	49042445	G	A	49042445	3	1	84	1	0	0	0	0	1	0	0	0	11360	971	34	2	1061	2	P4HTM	3	49042445	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	89	49042445	148979985	266	55809											
MST1	4485	broad.mit.edu	37	chr3	49724649	49724649	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgttgtgtagcaccaaggAcctccggggtcgccatcagg	13	12	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:49724649A>G	uc003cxg.2	-	5	612	c.540T>C	c.(538-540)GGT>GGC	p.G180G	MST1_uc011bcs.1_Silent_p.G180G|MST1_uc010hkx.2_Silent_p.G101G|MST1_uc011bct.1_Silent_p.G180G|MST1_uc011bcu.1_RNA|RNF123_uc003cxh.2_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	166	Kringle 1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGCACCAAGGACCTCCGGGGT	0.612													G	49724649	A	G	49724649	2	3	84	1	0	0	0	0	0	0	0	1	9890	262	10	3		3	MST1	3	49724649	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	682204	49724649	148297781	267	55810											
UBA7	7318	broad.mit.edu	37	chr3	49846865	49846865	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctggggacactgtttgggAcctgaccagaagggagttcc	16	9	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:49846865A>G	uc003cxr.2	-	17	2292	c.2121T>C	c.(2119-2121)GGT>GGC	p.G707G		NM_003335	NP_003326	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	707					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)		ACTGTTTGGGACCTGACCAGA	0.572													G	49846865	A	G	49846865	2	3	84	1	0	0	0	0	0	0	0	1	16830	262	10	3		3	UBA7	3	49846865	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	122216	49846865	148175565	268	55811											
RASSF1	11186	broad.mit.edu	37	chr3	50368024	50368024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagaggtcacccaaggggGcaggcgtgcagggcctcttg	16	11	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:50368024G>A	uc003dad.1	-	6	1154	c.1023C>T	c.(1021-1023)TGC>TGT	p.C341C	TUSC2_uc003czy.1_5'Flank|TUSC2_uc003czz.1_5'Flank|RASSF1_uc003daa.1_Silent_p.C186C|RASSF1_uc003dab.1_Silent_p.C267C|RASSF1_uc003dac.2_Silent_p.C186C|RASSF1_uc003dae.1_Silent_p.C337C|RASSF1_uc010hlk.1_RNA|RASSF1_uc003daf.1_Silent_p.C186C	NM_170714	NP_733832	Q9NS23	RASF1_HUMAN	Ras association domain family 1 isoform D	341	SARAH.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACCCAAGGGGGCAGGCGTGCA	0.632													A	50368024	G	A	50368024	2	1	84	1	0	0	0	0	0	0	0	1	13084	1195	42	2		2	RASSF1	3	50368024	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	521159	50368024	147654406	269	55812											
PARP3	10039	broad.mit.edu	37	chr3	51978458	51978458	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaaggctagaagatgcaaAgaaggactttgagaagaaat	11	5	0	5			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:51978458A>G	uc003dby.2	+	4	736	c.365A>G	c.(364-366)AAG>AGG	p.K122R	RRP9_uc003dbw.1_5'Flank|PARP3_uc003dbz.2_Missense_Mutation_p.K129R	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	122					DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAAGATGCAAAGAAGGACTTT	0.507													G	51978458	A	G	51978458	3	3	84	1	0	0	0	0	1	0	0	0	11462	72	3	3	400	3	PARP3	3	51978458	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1610434	51978458	146043972	270	55813											
DNAH1	25981	broad.mit.edu	37	chr3	52433185	52433185	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attttgcccgcaaatttgtcAtctccattgacaccatctcc	4	14	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:52433185A>G	uc011bef.1	+	76	12670	c.12409A>G	c.(12409-12411)ATC>GTC	p.I4137V	DNAH1_uc003ddv.2_Missense_Mutation_p.I995V	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4202					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAAATTTGTCATCTCCATTGA	0.532													G	52433185	A	G	52433185	3	3	84	1	0	0	0	0	1	0	0	0	4597	217	8	3	12707	3	DNAH1	3	52433185	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	454727	52433185	145589245	271	55814											
STAB1	23166	broad.mit.edu	37	chr3	52556205	52556205	+	Frame_Shift_Del	DEL	G	G	-													cctgcacagatggccaccgcGggggctgcagcgagcacgcc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:52556204_52556204CG>C	uc003dej.3	+	58	6497	c.6423_6423CG>C	c.(6421-6423)cgcfs	p.R2141fs	STAB1_uc003dek.1_Frame_Shift_Del_p.R156fs|STAB1_uc003del.3_Frame_Shift_Del_p.R28fs	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2141	EGF-like 16.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ATGGCCACCGCGGGGGCTGCA	0.667													-	52556205	G	-	52556205	7	5	84	1	0	1	0	1	0	0	0	0	15236	1116	39	0	6658	0	STAB1	3	52556205	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	123020	52556205	145466225	272	55815											
NT5DC2	64943	broad.mit.edu	37	chr3	52561640	52561640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatgcccatacttgcgccGgtcagtgaagaagctgggct	12	12	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:52561640G>A	uc003deo.2	-	9	1343	c.919C>T	c.(919-921)CGG>TGG	p.R307W	NT5DC2_uc003dem.2_Missense_Mutation_p.R177W|NT5DC2_uc003den.2_Missense_Mutation_p.R344W|NT5DC2_uc010hmi.2_Missense_Mutation_p.R319W|NT5DC2_uc010hmj.2_Missense_Mutation_p.R123W	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2 isoform 2	307							hydrolase activity|metal ion binding				0				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TACTTGCGCCGGTCAGTGAAG	0.617													A	52561640	G	A	52561640	3	1	84	1	0	0	0	0	1	0	0	0	10691	1115	39	1	667	1	NT5DC2	3	52561640	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	5435	52561640	145460790	273	55816											
RFT1	91869	broad.mit.edu	37	chr3	53145912	53145912	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcagtttagcctctttccAgtttataaacgcctagaaga	7	9	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:53145912A>C	uc003dgj.2	-	7	763	c.709T>G	c.(709-711)TGG>GGG	p.W237G	RFT1_uc003dgk.2_Missense_Mutation_p.W198G	NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	RFT1 homolog	237					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		GCCTCTTTCCAGTTTATAAAC	0.398													C	53145912	A	C	53145912	3	2	84	1	0	0	0	0	1	0	0	0	13257	188	7	5	944	5	RFT1	3	53145912	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	584272	53145912	144876518	274	55817											
ERC2	26059	broad.mit.edu	37	chr3	55768913	55768913	+	Frame_Shift_Del	DEL	T	T	-													agcaaggcaatgtttgcatcTttttcactgatggctgcaag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:55768913delT	uc003dhr.1	-	15	2854	c.2598delA	c.(2596-2598)AAAfs	p.K866fs	ERC2_uc003dhq.1_RNA|ERC2_uc003dht.1_Frame_Shift_Del_p.K345fs	NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	866	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGTTTGCATCTTTTTCACTGA	0.373													-	55768913	T	-	55768913	7	5	84	1	0	1	0	1	0	0	0	0	5211	1606	56	0	287	0	ERC2	3	55768913	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	2623001	55768913	142253517	275	55818											
APPL1	26060	broad.mit.edu	37	chr3	57294708	57294708	+	Frame_Shift_Del	DEL	T	T	-													acaccaggaaaataagcgccTttttggatttgttcttcgga							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:57294707_57294707CT>C	uc003dio.3	+	18	1894	c.1747_1747CT>C	c.(1747-1749)cttfs	p.L583fs	APPL1_uc010hnb.3_Frame_Shift_Del_p.L583fs|APPL1_uc011bey.1_Frame_Shift_Del_p.L566fs	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	583	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		AAATAAGCGCCTTTTTGGATT	0.393													-	57294708	T	-	57294708	7	5	84	1	0	1	0	1	0	0	0	0	817	1609	56	0	1822	0	APPL1	3	57294708	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	1525795	57294708	140727722	276	55819											
LRIG1	26018	broad.mit.edu	37	chr3	66467669	66467669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagctggctcccctccacGctgcgaatcttgttgtgctg	10	14	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:66467669G>A	uc003dmx.2	-	4	401	c.387C>T	c.(385-387)AGC>AGT	p.S129S	LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Silent_p.S129S	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	129	Extracellular (Potential).|LRR 3.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCCCCTCCACGCTGCGAATCT	0.488													A	66467669	G	A	66467669	2	1	84	1	0	0	0	0	0	0	0	1	8944	1078	38	1		1	LRIG1	3	66467669	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	9172961	66467669	131554761	277	55820											
ROBO1	6091	broad.mit.edu	37	chr3	78766489	78766489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtacagggtcacctcgggCctcacatttaaattctgcac	9	12	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:78766489C>T	uc003dqe.2	-	7	1061	c.853G>A	c.(853-855)GCC>ACC	p.A285T	ROBO1_uc003dqb.2_Missense_Mutation_p.A246T|ROBO1_uc003dqc.2_Missense_Mutation_p.A246T|ROBO1_uc003dqd.2_Missense_Mutation_p.A246T|ROBO1_uc003dqf.1_5'Flank	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	285	Extracellular (Potential).|Ig-like C2-type 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCACCTCGGGCCTCACATTTA	0.423													T	78766489	C	T	78766489	3	4	84	1	0	0	0	0	1	0	0	0	13513	739	26	2	4215	2	ROBO1	3	78766489	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	12298820	78766489	119255941	278	55821											
EPHA3	2042	broad.mit.edu	37	chr3	89499363	89499363	+	Frame_Shift_Del	DEL	C	C	-													atgagggctatcgactgccaCcccccatggactgcccagct							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:89499362_89499362AC>A	uc003dqy.3	+	14	2757	c.2532_2532AC>A	c.(2530-2532)ccafs	p.P844fs	EPHA3_uc021xbf.1_Frame_Shift_Del_p.P844fs	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	844	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATCGACTGCCACCCCCCATGG	0.468										TSP Lung(6;0.00050)			-	89499363	C	-	89499363	7	5	84	1	0	1	0	1	0	0	0	0	5168	507	18	0	2617	0	EPHA3	3	89499363	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	10732874	89499363	108523067	279	55822											
FILIP1L	11259	broad.mit.edu	37	chr3	99568802	99568802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttcctttctcttcttccGctttcaatttgttttttaaa	2	10	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:99568802G>A	uc003dtm.2	-	5	2181	c.1718C>T	c.(1717-1719)GCG>GTG	p.A573V	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.A573V|FILIP1L_uc010hpf.2_Missense_Mutation_p.A149V|FILIP1L_uc010hpg.2_Missense_Mutation_p.A333V|FILIP1L_uc003dtn.2_Missense_Mutation_p.A333V|FILIP1L_uc003dtp.1_Missense_Mutation_p.A333V	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	573	Potential.					cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						CTCTTCTTCCGCTTTCAATTT	0.348													A	99568802	G	A	99568802	3	1	84	1	0	0	0	0	1	0	0	0	5895	1087	38	1	1718	1	FILIP1L	3	99568802	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	10069439	99568802	98453628	280	55823											
FILIP1L	11259	broad.mit.edu	37	chr3	99569758	99569758	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggattttctgtctttgaagGgtgagctgtgccgtcagcct	13	8	3	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:99569758G>T	uc003dtm.2	-	5	1225	c.762C>A	c.(760-762)ACC>ACA	p.T254T	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Silent_p.T254T|FILIP1L_uc010hpf.2_Intron|FILIP1L_uc010hpg.2_Silent_p.T14T|FILIP1L_uc003dtn.2_Silent_p.T14T|FILIP1L_uc003dtp.1_Silent_p.T14T	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	254	Potential.					cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						GTCTTTGAAGGGTGAGCTGTG	0.493													T	99569758	G	T	99569758	2	4	84	1	0	0	0	0	0	0	0	1	5895	1219	43	5		5	FILIP1L	3	99569758	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	956	99569758	98452672	281	55824											
SENP7	57337	broad.mit.edu	37	chr3	101085608	101085608	+	Frame_Shift_Del	DEL	T	T	-													attgttgagtcatcttcttgTtttttctaaacataaacaca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:101085607_101085607GT>G	uc003dut.3	-	8	1096	c.985_985AC>C	c.(985-987)caafs	p.Q329fs	SENP7_uc003duu.3_Frame_Shift_Del_p.Q264fs|SENP7_uc003duv.3_Frame_Shift_Del_p.Q296fs|SENP7_uc003duw.3_Frame_Shift_Del_p.Q263fs|SENP7_uc003dux.3_Frame_Shift_Del_p.Q165fs	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	329					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCATCTTCTTGTTTTTTCTAA	0.274													-	101085608	T	-	101085608	7	5	84	1	0	1	0	1	0	0	0	0	14051	1722	60	0	2232	0	SENP7	3	101085608	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	1515850	101085608	96936822	282	55825											
RPL24	6152	broad.mit.edu	37	chr3	101399981	101399981	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatctaatctgccagtttAgcgttttccaccaactcggg	7	11	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:101399981A>G	uc003dvh.1	-	6	515	c.472T>C	c.(472-474)TAA>CAA	p.*158Q	RPL24_uc003dvi.1_3'UTR	NM_000986	NP_000977	P83731	RL24_HUMAN	ribosomal protein L24	158					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0						CTGCCAGTTTAGCGTTTTCCA	0.378													G	101399981	A	G	101399981	4	3	84	1	0	0	0	0	0	0	0	0	13572	433	15	3	5	3	RPL24	3	101399981	Nonstop_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	314373	101399981	96622449	283	55826											
C3orf17	25871	broad.mit.edu	37	chr3	112730081	112730081	+	Frame_Shift_Del	DEL	T	T	-													agctgcaaaagctataggcaTttttttcttaaaggcttcaa							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:112730080_112730080AT>A	uc003dzr.3	-	5	786	c.725_725AT>T	c.(724-726)atgfs	p.M242fs	C3orf17_uc011bia.2_Intron|C3orf17_uc003dzu.3_Frame_Shift_Del_p.M171fs|C3orf17_uc011bib.2_Frame_Shift_Del_p.M131fs|C3orf17_uc011bic.2_Frame_Shift_Del_p.M75fs|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_Intron|C3orf17_uc003dzt.3_Frame_Shift_Del_p.M145fs|C3orf17_uc003dzs.3_Frame_Shift_Del_p.M106fs|C3orf17_uc010hqg.3_Frame_Shift_Del_p.M67fs	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.	242						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						AGCTATAGGCATTTTTTTCTT	0.338													-	112730081	T	-	112730081	7	5	84	1	0	1	0	1	0	0	0	0	2210	1493	52	0	995	0	C3orf17	3	112730081	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	11330100	112730081	85292349	284	55827											
CCDC37	348807	broad.mit.edu	37	chr3	126137556	126137556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaatccctggagaaggacGccgccttgttcgacgagttc	12	11	0	2	rs149511023	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:126137556G>A	uc003eiu.1	+	7	688	c.589G>A	c.(589-591)GCC>ACC	p.A197T	CCDC37_uc010hsg.1_Missense_Mutation_p.A198T	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	197	Potential.									ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.166)		GGAGAAGGACGCCGCCTTGTT	0.657													A	126137556	G	A	126137556	3	1	84	1	0	0	0	0	1	0	0	0	2809	1087	38	1	611	1	CCDC37	3	126137556	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	13407475	126137556	71884874	285	55828											
PLXNA1	5361	broad.mit.edu	37	chr3	126733136	126733136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgctgctccctgcgacAccactgcgctgccgacacac	10	20	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:126733136A>G	uc003ejg.2	+	11	2457	c.2453A>G	c.(2452-2454)CAC>CGC	p.H818R		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	841	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		TCCCTGCGACACCACTGCGCT	0.706													G	126733136	A	G	126733136	3	3	84	1	0	0	0	0	1	0	0	0	12119	159	6	3	2564	3	PLXNA1	3	126733136	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	595580	126733136	71289294	286	55829											
PLXNA1	5361	broad.mit.edu	37	chr3	126741635	126741635	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgctaactaactggttcAccttcctcttgtataagttc	6	10	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:126741635A>G	uc003ejg.2	+	22	4271	c.4267A>G	c.(4267-4269)ACC>GCC	p.T1423A		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1446	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		TAACTGGTTCACCTTCCTCTT	0.562													G	126741635	A	G	126741635	3	3	84	1	0	0	0	0	1	0	0	0	12119	159	6	3	4422	3	PLXNA1	3	126741635	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	8499	126741635	71280795	287	55830											
RUVBL1	8607	broad.mit.edu	37	chr3	127783899	127783899	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtgtccagatccaaccCcagggagtttccatggtctg	12	11	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:127783899C>A	uc003eke.2	-	5	668	c.404G>T	c.(403-405)GGG>GTG	p.G135V	RUVBL1_uc003ekf.2_3'UTR|SEC61A1_uc003ekb.2_Intron|SEC61A1_uc003ekc.2_Intron|SEC61A1_uc003ekd.2_Intron|SEC61A1_uc003ekg.2_5'UTR	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	Error:Variant_position_missing_in_Q9Y265_after_alignment					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		AGATCCAACCCCAGGGAGTTT	0.493													A	127783899	C	A	127783899	3	1	84	1	0	0	0	0	1	0	0	0	13752	638	22	5		5	RUVBL1	3	127783899	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1042264	127783899	70238531	288	55831											
EEFSEC	60678	broad.mit.edu	37	chr3	128060203	128060204	+	Frame_Shift_Ins	INS	-	-	C													gagcgcgggttggtgtgtgcINSccccgagtccctgcacactg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:128060202_128060203G>GC	uc003eki.3	+	4	951_952	c.913_914G>GC	c.(913-915)gccfs	p.A305fs		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	305						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GTTGGTGTGTGCCCCCGAGTCC	0.584													C	128060204	-	C	128060203	7	5	84	1	0	1	1	0	0	0	0	0	4931	739	26	0	932	0	EEFSEC	3	128060203	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	276304	128060203	69962227	289	55832											
COPG	22820	broad.mit.edu	37	chr3	128979638	128979638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttcatgtcagaaatctcGgatgaattcaaggtacctgc	8	10	4	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:128979638G>A	uc003els.2	+	12	1216	c.1116G>A	c.(1114-1116)TCG>TCA	p.S372S	COPG_uc010htb.2_Silent_p.S278S	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	372	HEAT 4.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4						CAGAAATCTCGGATGAATTCA	0.597													A	128979638	G	A	128979638	2	1	84	1	0	0	0	0	0	0	0	1	3731	1103	39	1		1	COPG	3	128979638	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	919435	128979638	69042792	290	55833											
PLXND1	23129	broad.mit.edu	37	chr3	129284282	129284282	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttggggttcttggcggcCgaggcgtcaatgaggtccac	16	10	2	1	rs138273738		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:129284282C>T	uc003emx.2	-	25	4522	c.4422G>A	c.(4420-4422)TCG>TCA	p.S1474S	PLXND1_uc011blb.1_Silent_p.S142S	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1474	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						TCTTGGCGGCCGAGGCGTCAA	0.607													T	129284282	C	T	129284282	2	4	84	1	0	0	0	0	0	0	0	1	12127	639	23	1		1	PLXND1	3	129284282	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	304644	129284282	68738148	291	55834											
BFSP2	8419	broad.mit.edu	37	chr3	133185682	133185682	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctccacagcaacaggcggAggtggcccacatgtcccaga	11	15	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:133185682A>G	uc003epn.1	+	5	1040	c.902A>G	c.(901-903)GAG>GGG	p.E301G		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	phakinin	301	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens				0						CAACAGGCGGAGGTGGCCCAC	0.577													G	133185682	A	G	133185682	3	3	84	1	0	0	0	0	1	0	0	0	1416	304	11	3	920	3	BFSP2	3	133185682	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	3901400	133185682	64836748	292	55835											
BFSP2	8419	broad.mit.edu	37	chr3	133191257	133191257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggagctccagaacctgggCgctgtggtcggccggctgga	17	11	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:133191257C>T	uc003epn.1	+	6	1230	c.1092C>T	c.(1090-1092)GGC>GGT	p.G364G		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	phakinin	364	Rod.|Potential.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens				0						AGAACCTGGGCGCTGTGGTCG	0.642													T	133191257	C	T	133191257	2	4	84	1	0	0	0	0	0	0	0	1	1416	755	27	1		1	BFSP2	3	133191257	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	5575	133191257	64831173	293	55836											
SRPRB	58477	broad.mit.edu	37	chr3	133524738	133524739	+	Frame_Shift_Ins	INS	-	-	G													ggcagatggcggcggtgccgINSggggcaccttccagccctac							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:133524737_133524738C>CG	uc003epx.2	+	1	330_331	c.45_46C>CG	c.(43-48)gccgggfs	p.A15fs		NM_021203	NP_067026	Q9Y5M8	SRPRB_HUMAN	Homo sapiens signal recognition particle receptor, B subunit (SRPRB), mRNA.	15						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	p.G14S(1)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						GCGGCGGTGCCGGGGGCACCTT	0.668													G	133524739	-	G	133524738	7	5	84	1	0	1	1	0	0	0	0	0	15162	1116	39	0	48	0	SRPRB	3	133524738	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	333481	133524738	64497692	294	55837											
EPHB1	2047	broad.mit.edu	37	chr3	134960032	134960032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacagctccagaggccatcGcctaccgcaagttcacttca	9	15	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:134960032G>A	uc003eqt.2	+	13	2609	c.2389G>A	c.(2389-2391)GCC>ACC	p.A797T	EPHB1_uc003equ.2_Missense_Mutation_p.A358T	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	797	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						AGAGGCCATCGCCTACCGCAA	0.522													A	134960032	G	A	134960032	3	1	84	1	0	0	0	0	1	0	0	0	5174	1087	38	1	2439	1	EPHB1	3	134960032	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1435294	134960032	63062398	295	55838											
DZIP1L	199221	broad.mit.edu	37	chr3	137787004	137787004	+	Frame_Shift_Del	DEL	C	C	-													ggggctcacctcatcccgggCcccgaggaaggaggggtgct							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:137787004delC	uc003erq.2	-	13	2184	c.1821delG	c.(1819-1821)GGGfs	p.G607fs		NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	607						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						TCATCCCGGGCCCCGAGGAAG	0.682													-	137787004	C	-	137787004	7	5	84	1	0	1	0	1	0	0	0	0	4864	726	26	0	498	0	DZIP1L	3	137787004	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	2826972	137787004	60235426	296	55839											
CHST2	9435	broad.mit.edu	37	chr3	142840223	142840223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctattcaaccagaatcccGaggtgttctttctctacgag	8	11	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:142840223G>A	uc003evm.2	+	2	1454	c.565G>A	c.(565-567)GAG>AAG	p.E189K		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	189	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3						CCAGAATCCCGAGGTGTTCTT	0.627													A	142840223	G	A	142840223	3	1	84	1	0	0	0	0	1	0	0	0	3404	1059	37	1	567	1	CHST2	3	142840223	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	5053219	142840223	55182207	297	55840											
TSC22D2	9819	broad.mit.edu	37	chr3	150128353	150128353	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccggcgccgcagcgagccccGccacggcggccacccttccc	12	23	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:150128353G>C	uc003exv.2	+	1	1566	c.1216G>C	c.(1216-1218)GCC>CCC	p.A406P	TSC22D2_uc003exw.2_RNA|TSC22D2_uc003exx.2_Missense_Mutation_p.A406P	NM_014779	NP_055594	O75157	T22D2_HUMAN	TSC22 domain family, member 2	406							sequence-specific DNA binding transcription factor activity			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGCGAGCCCCGCCACGGCGGC	0.751													C	150128353	G	C	150128353	3	2	84	1	0	0	0	0	1	0	0	0	16605	1087	38	5	1218	5	TSC22D2	3	150128353	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	7288130	150128353	47894077	298	55841											
SERP1	27230	broad.mit.edu	37	chr3	150263978	150263978	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggactcgctcactcgcctgcCtcctctggagccgctgcgag	12	17	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:150263978C>A	uc003exy.2	-	1	451	c.-55G>T	c.(-57--53)GAGGC>GATGC		SERP1_uc003exz.2_RNA|EIF2A_uc003eya.2_5'Flank|EIF2A_uc003eyb.2_5'Flank|EIF2A_uc003eyc.2_5'Flank|EIF2A_uc011bnv.1_5'Flank|EIF2A_uc011bnw.1_5'Flank	NM_014445	NP_055260	Q9Y6X1	SERP1_HUMAN	stress-associated endoplasmic reticulum protein						plasma membrane organization|protein glycosylation|protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane|ribosome					0			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ACTCGCCTGCCTCCTCTGGAG	0.716													A	150263978	C	A	150263978	1	1	84	1	0	0	0	0	0	0	0	0	14084	696	24	5		5	SERP1	3	150263978	Translation_Start_Site	SNP	C	TCGA-BR-8372-01A-11D-2340-08	135625	150263978	47758452	299	55842											
GPR87	53836	broad.mit.edu	37	chr3	151012788	151012788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggtctgcaaccactatGtttttgagatagaatatgaa	9	5	1	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:151012788G>A	uc003eyt.2	-	3	607	c.246C>T	c.(244-246)AAC>AAT	p.N82N	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	82	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAACCACTATGTTTTTGAGAT	0.383													A	151012788	G	A	151012788	2	1	84	1	0	0	0	0	0	0	0	1	6716	1368	48	4		4	GPR87	3	151012788	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	748810	151012788	47009642	300	55843											
IGSF10	285313	broad.mit.edu	37	chr3	151166172	151166172	+	Frame_Shift_Del	DEL	T	T	-													ctggagttccaattttccacTtttgtctattaggatccgtc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:151166172delT	uc011bod.1	-	4	1597	c.1597delA	c.(1597-1599)AGTfs	p.S533fs		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	533	Ig-like C2-type 1.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATTTTCCACTTTTGTCTATT	0.448													-	151166172	T	-	151166172	7	5	84	1	0	1	0	1	0	0	0	0	7597	1609	56	0	6334	0	IGSF10	3	151166172	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	153384	151166172	46856258	301	55844											
SHOX2	6474	broad.mit.edu	37	chr3	157815997	157815997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggaacatcatgtagggcGcgtgcgcggccaggtgcgga	18	10	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:157815997G>A	uc003fbr.2	-	5	954	c.815C>T	c.(814-816)GCG>GTG	p.A272V	SHOX2_uc003fbs.2_Missense_Mutation_p.A296V|SHOX2_uc010hvw.2_Missense_Mutation_p.A260V	NM_006884	NP_006875	O60902	SHOX2_HUMAN	short stature homeobox 2 isoform a	272					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CATGTAGGGCGCGTGCGCGGC	0.701													A	157815997	G	A	157815997	3	1	84	1	0	0	0	0	1	0	0	0	14289	1087	38	1	184	1	SHOX2	3	157815997	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	6649825	157815997	40206433	302	55845											
ARL14	80117	broad.mit.edu	37	chr3	160395474	160395474	+	Frame_Shift_Del	DEL	A	A	-													ttttgaagaatgaacacattAaaaatgtgcctgttgttcta							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:160395473_160395473TA>T	uc003fdq.3	+	0	526	c.339_339TA>T	c.(337-339)attfs	p.I113fs		NM_025047	NP_079323	Q8N4G2	ARL14_HUMAN	Homo sapiens ADP-ribosylation factor-like 14 (ARL14), mRNA.	113					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			ATGAACACATTAAAAATGTGC	0.438													-	160395474	A	-	160395474	7	5	84	1	0	1	0	1	0	0	0	0	930	363	13	0	342	0	ARL14	3	160395474	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	2579477	160395474	37626956	303	55846											
SERPINI1	5274	broad.mit.edu	37	chr3	167507159	167507159	+	Frame_Shift_Del	DEL	A	A	-													tcaatgggatatgacagcctAaaaaatggtaagagtgatca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:167507158_167507158TA>T	uc003ffa.4	+	1	440	c.242_242TA>T	c.(241-243)ctafs	p.L81fs	SERPINI1_uc003ffb.4_Frame_Shift_Del_p.L81fs	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	81					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.L81Q(2)|p.S80I(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TATGACAGCCTAAAAAATGGT	0.388													-	167507159	A	-	167507159	7	5	84	1	0	1	0	1	0	0	0	0	14118	349	13	0	245	0	SERPINI1	3	167507159	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	7111685	167507159	30515271	304	55847											
PRKCI	5584	broad.mit.edu	37	chr3	169998165	169998166	+	Frame_Shift_Ins	INS	-	-	A													ttatgcaatgaaagttgtgaINSaaaaagagcttgttaatgat							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:169998164_169998165G>GA	uc003fgs.2	+	8	1093_1094	c.855_856G>GA	c.(853-858)gtgaaafs	p.V285fs		NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	285	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TGAAAGTTGTGAAAAAAGAGCT	0.327													A	169998166	-	A	169998165	7	5	84	1	0	1	1	0	0	0	0	0	12514	247	9	0	890	0	PRKCI	3	169998165	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	2491006	169998165	28024265	305	55848											
ABCC5	10057	broad.mit.edu	37	chr3	183665113	183665113	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctatcccagagactgaccTggacagcataagagatggcg	11	11	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:183665113T>C	uc003fmg.2	-	23	3578	c.3413A>G	c.(3412-3414)CAG>CGG	p.Q1138R	ABCC5_uc011bqt.1_Missense_Mutation_p.Q666R|ABCC5_uc010hxl.2_Missense_Mutation_p.Q1095R	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1138	ABC transmembrane type-1 2.|Helical; (Potential).					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAGACTGACCTGGACAGCATA	0.557													C	183665113	T	C	183665113	3	2	84	1	0	0	0	0	1	0	0	0	56	1594	55	3	932	3	ABCC5	3	183665113	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	13666948	183665113	14357317	306	55849											
C3orf59	151963	broad.mit.edu	37	chr3	192516463	192516463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaggacagcttccgggcGtgaagcatgactgtctcctc	12	12	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:192516463G>A	uc011bsp.1	-	2	1509	c.1188C>T	c.(1186-1188)CAC>CAT	p.H396H		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	hypothetical protein LOC151963	396											0	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)		GCTTCCGGGCGTGAAGCATGA	0.557													A	192516463	G	A	192516463	2	1	84	1	0	0	0	0	0	0	0	1	2237	1136	40	1		1	C3orf59	3	192516463	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	8851350	192516463	5505967	307	55850											
ATP13A3	79572	broad.mit.edu	37	chr3	194158117	194158117	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccattttcctatcccccagcAccctggcaaccacactcata	3	19	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:194158117A>G	uc003fty.3	-	18	2324	c.1922T>C	c.(1921-1923)GTG>GCG	p.V641A	ATP13A3_uc003ftz.1_Missense_Mutation_p.V347A	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	641					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ATCCCCCAGCACCCTGGCAAC	0.468													G	194158117	A	G	194158117	3	3	84	1	0	0	0	0	1	0	0	0	1125	159	6	3	1818	3	ATP13A3	3	194158117	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1641654	194158117	3864313	308	55851											
TNK2	10188	broad.mit.edu	37	chr3	195594422	195594422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgtgggggcggcggggGctggggtgctgggtgggggc	28	7	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:195594422G>A	uc003fvu.1	-	12	3245	c.2702C>T	c.(2701-2703)GCC>GTC	p.A901V	TNK2_uc003fvq.1_Missense_Mutation_p.A308V|TNK2_uc003fvr.1_Missense_Mutation_p.A426V|TNK2_uc003fvs.1_Missense_Mutation_p.A933V|TNK2_uc003fvt.1_Missense_Mutation_p.A979V|TNK2_uc010hzw.1_RNA	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	901	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	ggcggcgggggctggggtgct	0.453													A	195594422	G	A	195594422	3	1	84	1	0	0	0	0	1	0	0	0	16315	1203	42	2	430	2	TNK2	3	195594422	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1436305	195594422	2428008	309	55852											
SENP5	205564	broad.mit.edu	37	chr3	196613205	196613205	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaacatcgttctaataccAtgttcatttcagaaactgaa	5	9	3	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:196613205A>G	uc003fwz.3	+	2	1402	c.1153A>G	c.(1153-1155)ATG>GTG	p.M385V	SENP5_uc011bty.1_Missense_Mutation_p.M385V	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	385					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			breast(2)|lung(1)	3	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TTCTAATACCATGTTCATTTC	0.443													G	196613205	A	G	196613205	3	3	84	1	0	0	0	0	1	0	0	0	14049	217	8	3	1155	3	SENP5	3	196613205	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1018783	196613205	1409225	310	55853											
SLC26A1	10861	broad.mit.edu	37	chr4	985400	985400	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccacagcctggccttcAgcatctcacgcagaccccgg	9	18	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:985400A>G	uc003gcb.2	-	3	470	c.92T>C	c.(91-93)CTG>CCG	p.L31P	SLC26A1_uc003gbx.2_Missense_Mutation_p.L31P|IDUA_uc003gby.2_Intron|IDUA_uc003gbz.2_Intron|IDUA_uc003gca.2_Intron|SLC26A1_uc003gcc.2_Missense_Mutation_p.L31P	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	solute carrier family 26, member 1 isoform a	31						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCTGGCCTTCAGCATCTCACG	0.711													G	985400	A	G	985400	3	3	84	1	0	0	0	0	1	0	0	0	14514	188	7	3	2124	3	SLC26A1	4	985400	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08		985400	190168876	311	55854											
FGFRL1	53834	broad.mit.edu	37	chr4	1018157	1018157	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtgaacacgacggtggaCttcggggggaccacgtcctt	14	13	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:1018157C>T	uc003gce.2	+	6	938	c.777C>T	c.(775-777)GAC>GAT	p.D259D	FGFRL1_uc003gcf.2_Silent_p.D259D|FGFRL1_uc003gcg.2_Silent_p.D259D|FGFRL1_uc010ibo.2_Silent_p.D259D	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	259	Ig-like C2-type 3.|Extracellular (Potential).				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGACGGTGGACTTCGGGGGGA	0.697													T	1018157	C	T	1018157	2	4	84	1	0	0	0	0	0	0	0	1	5869	564	20	4		4	FGFRL1	4	1018157	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	32757	1018157	190136119	312	55855											
MAEA	10296	broad.mit.edu	37	chr4	1316173	1316173	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttccttcctctaaggaccTagtgaatattgagatgttcc	8	10	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:1316173T>C	uc003gda.2	+	4	491	c.461T>C	c.(460-462)CTA>CCA	p.L154P	MAEA_uc010ibs.1_Intron|MAEA_uc003gdb.2_Intron|MAEA_uc011bvb.1_Missense_Mutation_p.L86P|MAEA_uc003gdc.2_Intron|MAEA_uc003gdd.2_Intron|MAEA_uc011bvc.1_Missense_Mutation_p.L153P|MAEA_uc011bvd.1_Missense_Mutation_p.L106P|MAEA_uc010ibt.2_Intron	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher isoform 1	154					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			TCTAAGGACCTAGTGAATATT	0.602													C	1316173	T	C	1316173	3	2	84	1	0	0	0	0	1	0	0	0	9153	1522	53	3	475	3	MAEA	4	1316173	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	298016	1316173	189838103	313	55856											
WHSC1	7468	broad.mit.edu	37	chr4	1932443	1932443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtgagaagcagagagcaCgctacaacaccaagtttgcc	11	10	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:1932443C>T	uc003gdz.3	+	6	1677	c.1501C>T	c.(1501-1503)CGC>TGC	p.R501C	WHSC1_uc003geb.3_Missense_Mutation_p.R501C|WHSC1_uc003gec.3_Missense_Mutation_p.R501C|WHSC1_uc003ged.3_Missense_Mutation_p.R501C|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdy.1_Missense_Mutation_p.R501C|WHSC1_uc010icd.1_Missense_Mutation_p.R501C|WHSC1_uc003gea.1_Missense_Mutation_p.R501C|WHSC1_uc010ice.1_Missense_Mutation_p.R501C|WHSC1_uc003geh.1_Missense_Mutation_p.R501C	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	501	HMG box.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GCAGAGAGCACGCTACAACAC	0.532			T	IGH@	MM								T	1932443	C	T	1932443	3	4	84	1	0	0	0	0	1	0	0	0	17359	536	19	1	1519	1	WHSC1	4	1932443	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	616270	1932443	189221833	314	55857											
POLN	353497	broad.mit.edu	37	chr4	2178053	2178053	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcaggttctcacgtacAttctgattctttaaaagagc	7	9	5	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:2178053A>G	uc003ger.2	-	7	1188	c.1188T>C	c.(1186-1188)AAT>AAC	p.N396N	POLN_uc010ich.1_Intron|POLN_uc011bvi.1_Silent_p.N396N	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	396					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TCTCACGTACATTCTGATTCT	0.373								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					G	2178053	A	G	2178053	2	3	84	1	0	0	0	0	0	0	0	1	12207	214	8	3		3	POLN	4	2178053	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	245610	2178053	188976223	315	55858											
SH3BP2	6452	broad.mit.edu	37	chr4	2822459	2822459	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgcacaagaagggcggtAcccagctgcagctgctgaaa	12	12	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:2822459A>G	uc003gfi.3	+	2	235	c.115A>G	c.(115-117)ACC>GCC	p.T39A	SH3BP2_uc010icn.2_Missense_Mutation_p.T39A|SH3BP2_uc011bvp.1_Missense_Mutation_p.T67A|SH3BP2_uc003gfj.3_Missense_Mutation_p.T96A|SH3BP2_uc003gfk.3_Missense_Mutation_p.T39A|SH3BP2_uc003gfl.3_5'UTR	NM_001122681	NP_001116153	P78314	3BP2_HUMAN	SH3-domain binding protein 2 isoform a	39	PH.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GAAGGGCGGTACCCAGCTGCA	0.597									Cherubism				G	2822459	A	G	2822459	3	3	84	1	0	0	0	0	1	0	0	0	14245	391	14	3	376	3	SH3BP2	4	2822459	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	644406	2822459	188331817	316	55859											
SH3BP2	6452	broad.mit.edu	37	chr4	2828969	2828969	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgcagcgactccagctcGgacacagacagcttctacgg	10	14	1	1	rs145235325	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:2828969G>A	uc003gfi.3	+	6	561	c.441G>A	c.(439-441)TCG>TCA	p.S147S	SH3BP2_uc011bvp.1_Silent_p.S175S|SH3BP2_uc003gfj.3_Silent_p.S204S|SH3BP2_uc003gfk.3_Silent_p.S147S|SH3BP2_uc003gfl.3_Silent_p.S80S|SH3BP2_uc003gfm.3_Silent_p.S122S	NM_001122681	NP_001116153	P78314	3BP2_HUMAN	SH3-domain binding protein 2 isoform a	147					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ACTCCAGCTCGGACACAGACA	0.532									Cherubism				A	2828969	G	A	2828969	2	1	84	1	0	0	0	0	0	0	0	1	14245	1103	39	1		1	SH3BP2	4	2828969	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	6510	2828969	188325307	317	55860											
HTT	3064	broad.mit.edu	37	chr4	3219640	3219640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatcatcagcctggcccgCctgccccttgtcaacagcta	7	17	4	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:3219640C>T	uc011bvq.1	+	53	7354	c.7209C>T	c.(7207-7209)CGC>CGT	p.R2403R		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2401	Nuclear export signal (By similarity).				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCCTGGCCCGCCTGCCCCTTG	0.582													T	3219640	C	T	3219640	2	4	84	1	0	0	0	0	0	0	0	1	7457	726	26	2		2	HTT	4	3219640	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	390671	3219640	187934636	318	55861											
RGS12	6002	broad.mit.edu	37	chr4	3417718	3417718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcagctttcctacagggCccgggagattttcagtaagt	11	10	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:3417718C>T	uc003ggw.2	+	7	3201	c.2297C>T	c.(2296-2298)GCC>GTC	p.A766V	RGS12_uc003ggu.2_Missense_Mutation_p.A766V|RGS12_uc010ics.1_5'UTR|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.A766V|RGS12_uc003ggy.1_Missense_Mutation_p.A164V|RGS12_uc010ict.1_Missense_Mutation_p.A118V|RGS12_uc003ggz.2_Missense_Mutation_p.A118V|RGS12_uc010icu.1_5'UTR|RGS12_uc011bvs.1_Missense_Mutation_p.A108V|RGS12_uc003gha.2_Missense_Mutation_p.A108V|RGS12_uc010icv.2_5'UTR|RGS12_uc003ghb.2_5'UTR	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	766	RGS.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCTACAGGGCCCGGGAGATT	0.637													T	3417718	C	T	3417718	3	4	84	1	0	0	0	0	1	0	0	0	13295	739	26	2	2377	2	RGS12	4	3417718	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	198078	3417718	187736558	319	55862											
LYAR	55646	broad.mit.edu	37	chr4	4285410	4285410	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttctgcaaacagacacatgCttttccacttgtattttctt	4	10	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:4285410C>A	uc011bvy.1	-	3	203	c.60G>T	c.(58-60)AAG>AAT	p.K20N	LYAR_uc003ght.2_Missense_Mutation_p.K20N	NM_001145725	NP_001139197	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive homolog	20	C2HC-type 1.					nucleolus	metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGACACATGCTTTTCCACTT	0.358													A	4285410	C	A	4285410	3	1	84	1	0	0	0	0	1	0	0	0	9103	796	28	5	1111	5	LYAR	4	4285410	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	867692	4285410	186868866	320	55863											
EVC	2121	broad.mit.edu	37	chr4	5746947	5746947	+	Frame_Shift_Del	DEL	A	A	-													tcaggatttggaggaactagAaaagggacttcaggtcaaac							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:5746947delA	uc003gil.1	+	7	1002	c.818delA	c.(817-819)GAAfs	p.E273fs	EVC_uc003gim.1_RNA	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	273					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				GAGGAACTAGAAAAGGGACTT	0.378													-	5746947	A	-	5746947	7	5	84	1	0	1	0	1	0	0	0	0	5285	246	9	0	844	0	EVC	4	5746947	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	1461537	5746947	185407329	321	55864											
AFAP1	60312	broad.mit.edu	37	chr4	7844918	7844918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttggtccactggccgaacCgcttcttccgcagcaggaag	11	14	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:7844918C>T	uc003gkg.1	-	5	767	c.494G>A	c.(493-495)CGG>CAG	p.R165Q	AFAP1_uc011bwk.1_Missense_Mutation_p.R165Q	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	165	PH 1.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						CTGGCCGAACCGCTTCTTCCG	0.547													T	7844918	C	T	7844918	3	4	84	1	0	0	0	0	1	0	0	0	353	652	23	1	2006	1	AFAP1	4	7844918	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2097971	7844918	183309358	322	55865											
ABLIM2	84448	broad.mit.edu	37	chr4	8037891	8037891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catacctcgccgtagctctgCctgtcccctgcagagtggct	10	16	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:8037891C>T	uc003gko.2	-	10	1175	c.1032G>A	c.(1030-1032)AGG>AGA	p.R344R	ABLIM2_uc003gkl.2_Silent_p.R94R|ABLIM2_uc003gkj.3_Silent_p.R344R|ABLIM2_uc003gkm.3_Silent_p.R344R|ABLIM2_uc003gkp.2_Silent_p.R344R|ABLIM2_uc003gkq.2_Silent_p.R344R|ABLIM2_uc003gkr.2_Silent_p.R344R|ABLIM2_uc003gks.3_Silent_p.R344R|ABLIM2_uc011bwl.1_Silent_p.R349R	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	344					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3						CGTAGCTCTGCCTGTCCCCTG	0.597													T	8037891	C	T	8037891	2	4	84	1	0	0	0	0	0	0	0	1	95	738	26	2		2	ABLIM2	4	8037891	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	192973	8037891	183116385	323	55866											
ABLIM2	84448	broad.mit.edu	37	chr4	8098904	8098904	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccctcaatgaactggTcgcagctgaagcagcgggtg	12	13	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:8098904T>C	uc003gko.2	-	3	403	c.260A>G	c.(259-261)GAC>GGC	p.D87G	ABLIM2_uc003gkj.3_Missense_Mutation_p.D87G|ABLIM2_uc003gkm.3_Missense_Mutation_p.D87G|ABLIM2_uc003gkp.2_Missense_Mutation_p.D87G|ABLIM2_uc003gkq.2_Missense_Mutation_p.D87G|ABLIM2_uc003gkr.2_Missense_Mutation_p.D87G|ABLIM2_uc003gks.3_Missense_Mutation_p.D87G|ABLIM2_uc011bwl.1_Missense_Mutation_p.D92G	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	87	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3						AATGAACTGGTCGCAGCTGAA	0.657													C	8098904	T	C	8098904	3	2	84	1	0	0	0	0	1	0	0	0	95	1667	58	3	1807	3	ABLIM2	4	8098904	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	61013	8098904	183055372	324	55867											
SH3TC1	54436	broad.mit.edu	37	chr4	8229582	8229582	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgacatctacagccgcaagTgcctgccccacctggtgctg	10	16	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:8229582T>C	uc003gkv.3	+	12	2262	c.2161T>C	c.(2161-2163)TGC>CGC	p.C721R	SH3TC1_uc003gkw.3_Missense_Mutation_p.C645R|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	721							binding			large_intestine(2)|pancreas(1)	3						CAGCCGCAAGTGCCTGCCCCA	0.642													C	8229582	T	C	8229582	3	2	84	1	0	0	0	0	1	0	0	0	14261	1696	59	3	2203	3	SH3TC1	4	8229582	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	130678	8229582	182924694	325	55868											
GPR78	27201	broad.mit.edu	37	chr4	8588806	8588806	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggagctcgtgcccttcgtcAccgtgaacgcccagtggggc	14	15	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:8588806A>G	uc003glk.2	+	3	1227	c.808A>G	c.(808-810)ACC>GCC	p.T270A	CPZ_uc003gll.2_Intron	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	270	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|ovary(2)	6						GCCCTTCGTCACCGTGAACGC	0.662													G	8588806	A	G	8588806	3	3	84	1	0	0	0	0	1	0	0	0	6710	159	6	3	818	3	GPR78	4	8588806	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	359224	8588806	182565470	326	55869											
FBXL5	26234	broad.mit.edu	37	chr4	15642491	15642491	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttgttttgcataatttaActgttcatattcattctgga	6	6	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:15642491A>G	uc003goc.1	-	3	419	c.316T>C	c.(316-318)TTA>CTA	p.L106L	FBXL5_uc010idw.1_Intron|FBXL5_uc003gob.1_5'UTR|FBXL5_uc010idx.1_Silent_p.L106L|FBXL5_uc003god.1_Silent_p.L89L|FBXL5_uc010idy.1_Silent_p.L106L	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5 isoform	106	Hemerythrin-like.				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity				0						GCATAATTTAACTGTTCATAT	0.308													G	15642491	A	G	15642491	2	3	84	1	0	0	0	0	0	0	0	1	5722	40	2	3		3	FBXL5	4	15642491	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	7053685	15642491	175511785	327	55870											
CCKAR	886	broad.mit.edu	37	chr4	26483534	26483534	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctgcggaggcggtgtcgTaggcccgccaggcgttggcg	19	12	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:26483534T>C	uc003gse.1	-	5	1166	c.1013A>G	c.(1012-1014)TAC>TGC	p.Y338C		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	338	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			lung(3)|pancreas(1)	4		Breast(46;0.0503)			Ceruletide(DB00403)	GGCGGTGTCGTAGGCCCGCCA	0.602													C	26483534	T	C	26483534	3	2	84	1	0	0	0	0	1	0	0	0	2880	1638	57	3	277	3	CCKAR	4	26483534	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	10841043	26483534	164670742	328	55871											
CCKAR	886	broad.mit.edu	37	chr4	26487447	26487447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagacccgggactgtaaGggtttgcaaatcgcaccata	11	11	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:26487447G>A	uc003gse.1	-	3	591	c.438C>T	c.(436-438)CCC>CCT	p.P146P		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	146	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			lung(3)|pancreas(1)	4		Breast(46;0.0503)			Ceruletide(DB00403)	GGGACTGTAAGGGTTTGCAAA	0.468													A	26487447	G	A	26487447	2	1	84	1	0	0	0	0	0	0	0	1	2880	987	35	4		4	CCKAR	4	26487447	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	3913	26487447	164666829	329	55872											
TBC1D1	23216	broad.mit.edu	37	chr4	38022259	38022259	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatctgtcgggagtcttcCggaggtggcggctttcattt	13	8	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:38022259C>T	uc003gtb.2	+	5	1363	c.1020C>T	c.(1018-1020)TCC>TCT	p.S340S	TBC1D1_uc011byd.1_Silent_p.S340S|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Silent_p.S211S	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	340	PID.					nucleus	Rab GTPase activator activity			ovary(1)	1						GGGAGTCTTCCGGAGGTGGCG	0.493													T	38022259	C	T	38022259	2	4	84	1	0	0	0	0	0	0	0	1	15594	639	23	1		1	TBC1D1	4	38022259	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	11534812	38022259	153132017	330	55873											
KLB	152831	broad.mit.edu	37	chr4	39450263	39450263	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttttggaaagcaaaaaactTacaacacataccattaaaga	5	7	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:39450263T>C	uc003gua.2	+	5	3189	c.3092T>C	c.(3091-3093)TTA>TCA	p.L1031S	KLB_uc011byj.1_Missense_Mutation_p.L1022S	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	1031	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						GCAAAAAACTTACAACACATA	0.373													C	39450263	T	C	39450263	3	2	84	1	0	0	0	0	1	0	0	0	8332	1764	61	3	3110	3	KLB	4	39450263	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1428004	39450263	151704013	331	55874											
TEC	7006	broad.mit.edu	37	chr4	48169970	48169970	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattggtgggggaggccttcGctagacaaggaagataacat	14	6	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:48169970G>A	uc003gxz.2	-	7	587	c.496C>T	c.(496-498)CGA>TGA	p.R166*		NM_003215	NP_003206	P42680	TEC_HUMAN	tec protein tyrosine kinase	166					intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R166G(1)		lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						GGAGGCCTTCGCTAGACAAGG	0.378													A	48169970	G	A	48169970	4	1	84	1	0	0	0	0	0	1	0	0	15739	1101	38	1	1447	1	TEC	4	48169970	Nonsense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	8719707	48169970	142984306	332	55875											
REST	5978	broad.mit.edu	37	chr4	57796315	57796316	+	Frame_Shift_Ins	INS	-	-	A													agtgaaactaaagaaaaccaINSaaaaacgagaggctgacttg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:57796314_57796315C>CA	uc003hch.3	+	3	1637_1638	c.1290_1291C>CA	c.(1288-1293)accaaafs	p.T430fs	REST_uc003hci.3_Frame_Shift_Ins_p.T430fs|REST_uc010ihf.3_Frame_Shift_Ins_p.T104fs	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	430	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TAAAGAAAACCAAAAAACGAGA	0.332													A	57796316	-	A	57796315	7	5	84	1	0	1	1	0	0	0	0	0	13234	131	5	0	1301	0	REST	4	57796315	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	9626345	57796315	133357961	333	55876											
EPHA5	2044	broad.mit.edu	37	chr4	66230798	66230798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactgtcccatgatacttgCttcacctaggaaatctctgc	6	12	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:66230798C>T	uc003hcy.2	-	12	2366	c.2173G>A	c.(2173-2175)GCA>ACA	p.A725T	EPHA5_uc003hcx.2_Missense_Mutation_p.A657T|EPHA5_uc003hcz.2_Missense_Mutation_p.A703T|EPHA5_uc011cah.1_Missense_Mutation_p.A726T|EPHA5_uc011cai.1_Missense_Mutation_p.A704T|EPHA5_uc003hda.2_Missense_Mutation_p.A726T	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	725	Cytoplasmic (Potential).|Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						ATGATACTTGCTTCACCTAGG	0.388										TSP Lung(17;0.13)			T	66230798	C	T	66230798	3	4	84	1	0	0	0	0	1	0	0	0	5170	797	28	2	968	2	EPHA5	4	66230798	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	8434483	66230798	124923478	334	55877											
AFM	173	broad.mit.edu	37	chr4	74347532	74347533	+	Frame_Shift_Ins	INS	-	-	T													aggttttatttttttcttgtINStttttttgactgaatcccta					rs145217978	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:74347531_74347532G>GT	uc003hhb.3	+	0	70_71	c.39_40G>GT	c.(37-42)ttgtttfs	p.L13fs		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	13					vitamin transport		vitamin E binding	p.F12L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTTTTTCTTGTTTTTTTTGAC	0.312													T	74347533	-	T	74347532	7	5	84	1	0	1	1	0	0	0	0	0	361	1725	60	0	42	0	AFM	4	74347532	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	8116734	74347532	116806744	335	55878											
PARM1	25849	broad.mit.edu	37	chr4	75937954	75937954	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtccacttaacaaccacGttggaggaacacagctcggg	12	11	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:75937954G>A	uc003hih.1	+	2	603	c.363G>A	c.(361-363)ACG>ACA	p.T121T		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	prostatic androgen-repressed message-1	121	Extracellular (Potential).				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				ovary(1)	1						TAACAACCACGTTGGAGGAAC	0.582													A	75937954	G	A	75937954	2	1	84	1	0	0	0	0	0	0	0	1	11452	1132	40	1		1	PARM1	4	75937954	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1590422	75937954	115216322	336	55879											
SDAD1	55153	broad.mit.edu	37	chr4	76891521	76891521	+	Frame_Shift_Del	DEL	T	T	-													acacctctggttttttcttcTttttttgtttctgaaaggga							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:76891520_76891520CT>C	uc003hje.4	-	9	944	c.825_825AG>G	c.(823-825)aagfs	p.K275fs	SDAD1_uc003hjf.4_Frame_Shift_Del_p.K178fs|SDAD1_uc011cbr.2_Frame_Shift_Del_p.K238fs	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA.	275					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GTTTTTTCTTCTTTTTTTGTT	0.378													-	76891521	T	-	76891521	7	5	84	1	0	1	0	1	0	0	0	0	13950	1609	56	0	1291	0	SDAD1	4	76891521	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	953567	76891521	114262755	337	55880											
SHROOM3	57619	broad.mit.edu	37	chr4	77675534	77675534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatctcacccctcgttggGgtggttcaggctgcaaagcc	11	14	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:77675534G>A	uc011cbx.1	+	7	4851	c.3898G>A	c.(3898-3900)GGT>AGT	p.G1300S	SHROOM3_uc003hkg.2_Missense_Mutation_p.G1078S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1300					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			CCCTCGTTGGGGTGGTTCAGG	0.562													A	77675534	G	A	77675534	3	1	84	1	0	0	0	0	1	0	0	0	14295	1232	43	4	3924	4	SHROOM3	4	77675534	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	784013	77675534	113478742	338	55881											
PLAC8	51316	broad.mit.edu	37	chr4	84026148	84026148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacttgacacccaaggcaCgggaaacaaaatgtgccaca	9	12	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:84026148C>T	uc003hoe.2	-	3	305	c.144G>A	c.(142-144)CCG>CCA	p.P48P	PLAC8_uc011cco.1_Silent_p.P48P|PLAC8_uc010ijy.2_RNA|PLAC8_uc010ijz.2_Intron|PLAC8_uc003hod.2_Silent_p.P48P	NM_001130716	NP_001124188	Q9NZF1	PLAC8_HUMAN	placenta-specific 8	48										ovary(1)	1		Hepatocellular(203;0.114)				ACCCAAGGCACGGGAAACAAA	0.498													T	84026148	C	T	84026148	2	4	84	1	0	0	0	0	0	0	0	1	12015	523	19	1		1	PLAC8	4	84026148	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	6350614	84026148	107128128	339	55882											
WDFY3	23001	broad.mit.edu	37	chr4	85750185	85750185	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatcacaaagaaaattatAtccttgccatatccgaaaat	5	8	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:85750185A>G	uc003hpd.2	-	9	1336	c.928T>C	c.(928-930)TAT>CAT	p.Y310H	WDFY3_uc003hpf.2_Missense_Mutation_p.Y310H	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	310						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGAAAATTATATCCTTGCCAT	0.343													G	85750185	A	G	85750185	3	3	84	1	0	0	0	0	1	0	0	0	17267	449	16	3	9935	3	WDFY3	4	85750185	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1724037	85750185	105404091	340	55883											
MEPE	56955	broad.mit.edu	37	chr4	88766641	88766641	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccaagcccagaaaagtccAgtaaaaagcaaaagcaccca	6	13	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:88766641A>G	uc003hqy.2	+	4	660	c.621A>G	c.(619-621)CCA>CCG	p.P207P	MEPE_uc010ikn.2_Silent_p.P94P	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN	matrix, extracellular phosphoglycoprotein with	207					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			ovary(1)|lung(1)|skin(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGAAAAGTCCAGTAAAAAGCA	0.388													G	88766641	A	G	88766641	2	3	84	1	0	0	0	0	0	0	0	1	9478	175	7	3		3	MEPE	4	88766641	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	3016456	88766641	102387635	341	55884											
HERC5	51191	broad.mit.edu	37	chr4	89415439	89415439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaacttttggaccaaatgCcatcattggaagacttgaaa	8	7	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:89415439C>T	uc003hrt.2	+	18	2554	c.2401C>T	c.(2401-2403)CCA>TCA	p.P801S	HERC5_uc011cdm.1_Missense_Mutation_p.P439S	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	801	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GGACCAAATGCCATCATTGGA	0.393													T	89415439	C	T	89415439	3	4	84	1	0	0	0	0	1	0	0	0	7061	739	26	2	2471	2	HERC5	4	89415439	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	648798	89415439	101738837	342	55885											
GRID2	2895	broad.mit.edu	37	chr4	94693552	94693552	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctaatgggggctttttcaGgagtcctataaaaacaatgt	9	7	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:94693552G>T	uc011cdt.1	+	16	3185	c.2927G>T	c.(2926-2928)AGG>ATG	p.R976M	GRID2_uc011cdu.1_Missense_Mutation_p.R881M	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	976	Cytoplasmic (Potential).|Interaction with AP4M1 (By similarity).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGCTTTTTCAGGAGTCCTATA	0.493													T	94693552	G	T	94693552	3	4	84	1	0	0	0	0	1	0	0	0	6772	1000	35	5	2989	5	GRID2	4	94693552	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	5278113	94693552	96460724	343	55886											
MTTP	4547	broad.mit.edu	37	chr4	100540226	100540226	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggagtttagcttgtggtaTcgtgagtctaaaacccgagt	12	6	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:100540226T>C	uc003hvc.3	+	17	2569	c.2313T>C	c.(2311-2313)TAT>TAC	p.Y771Y	MTTP_uc011cej.1_Silent_p.Y798Y	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	771					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GCTTGTGGTATCGTGAGTCTA	0.353													C	100540226	T	C	100540226	2	2	84	1	0	0	0	0	0	0	0	1	9964	1442	50	3		3	MTTP	4	100540226	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	5846674	100540226	90614050	344	55887											
TET2	54790	broad.mit.edu	37	chr4	106157730	106157732	+	In_Frame_Del	DEL	TCT	TCT	-													aatgtgatcccaaagcaagaTcttcttcacaggtgctttca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:106157730_106157732delTCT	uc003hxk.2	+	3	3017_3019	c.2631_2633delTCT	c.(2629-2634)GATCTT>GAT	p.L879del	TET2_uc011cez.1_In_Frame_Del_p.L900del|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_In_Frame_Del_p.L879del|TET2_uc003hxi.1_In_Frame_Del_p.L879del	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	879	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAAAGCAAGATCTTCTTCACAGG	0.379			Mis N|F		MDS								-	106157732	TCT	-	106157730	7	5	84	1	0	1	0	1	0	0	0	0	15767	1432	50	0	2633	0	TET2	4	106157730	In_Frame_Del	DEL	TCT	TCGA-BR-8372-01A-11D-2340-08	5617504	106157730	84996546	345	55888											
PPA2	27068	broad.mit.edu	37	chr4	106345393	106345393	+	Silent	SNP	A	A	T													ggatcattcgcattgatagcAattaatttccaatctgtttc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:106345393A>T	uc003hxl.2	-	7	635	c.615T>A	c.(613-615)ATT>ATA	p.I205I	PPA2_uc003hxm.2_Silent_p.I187I|PPA2_uc003hxn.2_Silent_p.I176I|PPA2_uc003hxo.2_Silent_p.I103I|PPA2_uc003hxp.2_Intron|PPA2_uc003hxq.2_Silent_p.I112I|PPA2_uc003hxr.2_Silent_p.I112I|PPA2_uc011cfa.1_Silent_p.I112I	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN	inorganic pyrophosphatase 2 isoform 1 precursor	205					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			pancreas(1)	1		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		CATTGATAGCAATTAATTTCC	0.338													T	106345393	A	T	106345393	2	4	84	1	0	0	0	0	0	0	0	1	12287	126	5	5		5	PPA2	4	106345393	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	187663	106345393	84808883	346	55889	238	2									
PPA2	27068	broad.mit.edu	37	chr4	106345398	106345398	+	Missense_Mutation	SNP	A	A	T													attcgcattgatagcaattaAtttccaatctgtttcacctt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:106345398A>T	uc003hxl.2	-	7	630	c.610T>A	c.(610-612)TTA>ATA	p.L204I	PPA2_uc003hxm.2_Missense_Mutation_p.L186I|PPA2_uc003hxn.2_Missense_Mutation_p.L175I|PPA2_uc003hxo.2_Missense_Mutation_p.L102I|PPA2_uc003hxp.2_Intron|PPA2_uc003hxq.2_Missense_Mutation_p.L111I|PPA2_uc003hxr.2_Missense_Mutation_p.L111I|PPA2_uc011cfa.1_Missense_Mutation_p.L111I	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN	inorganic pyrophosphatase 2 isoform 1 precursor	204					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			pancreas(1)	1		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		ATAGCAATTAATTTCCAATCT	0.333													T	106345398	A	T	106345398	3	4	84	1	0	0	0	0	1	0	0	0	12287	98	4	5	418	5	PPA2	4	106345398	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	5	106345398	84808878	347	55890	238	2									
COL25A1	84570	broad.mit.edu	37	chr4	109753592	109753592	+	Splice_Site	DEL	A	A	-													cataggaccatctgtaccctAaaaaaaagataatatgagat							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:109753591_109753591TA>T	uc021xqo.1	-	31	1713	c.1657_splice	c.e31-1	p.G553_splice	COL25A1_uc003hze.1_Splice_Site_p.G553_splice|COL25A1_uc021xqp.1_Splice_Site_p.G553_splice|COL25A1_uc003hzg.3_Splice_Site_p.G553_splice|COL25A1_uc003hzd.3_Splice_Site|COL25A1_uc003hzf.3_Splice_Site_p.G350_splice	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	553						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ATCTGTACCCTAAAAAAAAGA	0.393													-	109753592	A	-	109753592	8	5	84	1	0	1	0	1	0	0	1	0	3684	377	13	0		0	COL25A1	4	109753592	Splice_Site	DEL	A	TCGA-BR-8372-01A-11D-2340-08	3408194	109753592	81400684	348	55891											
SEC24B	10427	broad.mit.edu	37	chr4	110448544	110448544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcactagcagatgtatatgCgggagtggatgtacaagctg	13	6	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:110448544C>T	uc003hzk.2	+	18	3087	c.3032C>T	c.(3031-3033)GCG>GTG	p.A1011V	SEC24B_uc003hzl.2_Missense_Mutation_p.A976V|SEC24B_uc011cfp.1_Missense_Mutation_p.A1041V|SEC24B_uc011cfq.1_Missense_Mutation_p.A1010V|SEC24B_uc011cfr.1_Missense_Mutation_p.A975V	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	1011					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GATGTATATGCGGGAGTGGAT	0.368													T	110448544	C	T	110448544	3	4	84	1	0	0	0	0	1	0	0	0	13995	768	27	1	3102	1	SEC24B	4	110448544	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	694952	110448544	80705732	349	55892											
EGF	1950	broad.mit.edu	37	chr4	110915959	110915959	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaatagtgactctgaatgTcccctgtcccacgatgggta	10	10	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:110915959T>C	uc003hzy.3	+	20	3380	c.2928T>C	c.(2926-2928)TGT>TGC	p.C976C	EGF_uc011cfu.1_Silent_p.C934C|EGF_uc011cfv.1_Silent_p.C935C|EGF_uc010imk.2_Silent_p.C124C	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	976	EGF-like 9.|Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	ACTCTGAATGTCCCCTGTCCC	0.443													C	110915959	T	C	110915959	2	2	84	1	0	0	0	0	0	0	0	1	4962	1673	58	3		3	EGF	4	110915959	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	467415	110915959	80238317	350	55893											
ANK2	287	broad.mit.edu	37	chr4	114254212	114254212	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgcattgctatgtcaggcCtgtgatcgtggagatccctc	11	11	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:114254212C>A	uc003ibe.3	+	29	3327	c.3227C>A	c.(3226-3228)CCT>CAT	p.P1076H	ANK2_uc003ibd.3_Missense_Mutation_p.P1067H|ANK2_uc003ibf.3_Missense_Mutation_p.P1076H|ANK2_uc011cgc.1_Missense_Mutation_p.P252H|ANK2_uc003ibg.3_Missense_Mutation_p.P71H|ANK2_uc003ibc.2_Missense_Mutation_p.P1052H|ANK2_uc011cgb.1_Missense_Mutation_p.P1091H	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1043	ZU5.|Interaction with SPTBN1.				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)		TATGTCAGGCCTGTGATCGTG	0.507													A	114254212	C	A	114254212	3	1	84	1	0	0	0	0	1	0	0	0	621	681	24	5	3406	5	ANK2	4	114254212	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	3338253	114254212	76900064	351	55894											
UGT8	7368	broad.mit.edu	37	chr4	115597177	115597177	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatagattatattattcgTcacaatggagcccatcacct	7	9	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:115597177T>C	uc003ibs.2	+	6	1881	c.1359T>C	c.(1357-1359)CGT>CGC	p.R453R	UGT8_uc003ibt.2_Silent_p.R453R|UGT8_uc011cge.1_RNA	NM_001128174	NP_001121646	Q16880	CGT_HUMAN	UDP-galactose-ceramide galactosyltransferase 8	453					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			ovary(1)|skin(1)	2		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		ATATTATTCGTCACAATGGAG	0.443													C	115597177	T	C	115597177	2	2	84	1	0	0	0	0	0	0	0	1	16962	1654	58	3		3	UGT8	4	115597177	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1342965	115597177	75557099	352	55895											
PRDM5	11107	broad.mit.edu	37	chr4	121843735	121843735	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgggaggacttcagggagAacctgtccggcacgtacatg	14	12	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:121843735A>G	uc003idn.2	-	1	279	c.29T>C	c.(28-30)TTC>TCC	p.F10S	PRDM5_uc003ido.2_Missense_Mutation_p.F10S|PRDM5_uc010ine.2_Missense_Mutation_p.F10S|PRDM5_uc010inf.2_Missense_Mutation_p.F10S|PRDM5_uc003idp.1_Missense_Mutation_p.F10S	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	10	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2						CTTCAGGGAGAACCTGTCCGG	0.587													G	121843735	A	G	121843735	3	3	84	1	0	0	0	0	1	0	0	0	12460	246	9	3	1927	3	PRDM5	4	121843735	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	6246558	121843735	69310541	353	55896											
KIAA1109	84162	broad.mit.edu	37	chr4	123165029	123165030	+	Frame_Shift_Ins	INS	-	-	A													acgccgtatactccattggaINSaaaaaaactcgctgataaca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:123165028_123165029G>GA	uc003ieh.3	+	28	4807_4808	c.4762_4763G>GA	c.(4762-4764)gaafs	p.E1588fs	KIAA1109_uc003iek.2_Frame_Shift_Ins_p.E207fs	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1588					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TACTCCATTGGAAAAAAAACTC	0.381													A	123165030	-	A	123165029	7	5	84	1	0	1	1	0	0	0	0	0	8208	246	9	0	4877	0	KIAA1109	4	123165029	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	1321294	123165029	67989247	354	55897											
BBS12	166379	broad.mit.edu	37	chr4	123664360	123664360	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttggtaatcggctcagtgaAtggcagtgtgatgcaggctt	15	6	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:123664360A>G	uc003ieu.2	+	2	1506	c.1313A>G	c.(1312-1314)AAT>AGT	p.N438S		NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	438					cellular protein metabolic process	cilium	ATP binding			ovary(2)	2						GGCTCAGTGAATGGCAGTGTG	0.483									Bardet-Biedl_syndrome				G	123664360	A	G	123664360	3	3	84	1	0	0	0	0	1	0	0	0	1337	101	4	3	1315	3	BBS12	4	123664360	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	499331	123664360	67489916	355	55898											
PCDH18	54510	broad.mit.edu	37	chr4	138452697	138452697	+	Frame_Shift_Del	DEL	A	A	-													ctggtccgaacctcgatattAaaaaaatcattggcagagag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:138452697delA	uc003ihe.3	-	1	933	c.546delT	c.(544-546)TTTfs	p.F182fs	PCDH18_uc003ihf.3_Frame_Shift_Del_p.F175fs|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_5'UTR|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	182	Extracellular (Potential).|Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					CCTCGATATTAAAAAAATCAT	0.493													-	138452697	A	-	138452697	7	5	84	1	0	1	0	1	0	0	0	0	11513	359	13	0	2877	0	PCDH18	4	138452697	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	14788337	138452697	52701579	356	55899											
MAB21L2	10586	broad.mit.edu	37	chr4	151504409	151504409	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgcccaccgaatttgaggtGgtgctctacctaaaccagat	9	12	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:151504409G>T	uc003ilw.2	+	1	1333	c.228G>T	c.(226-228)GTG>GTT	p.V76V	LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	mab-21-like protein 2	76					nervous system development	nucleus				ovary(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		AATTTGAGGTGGTGCTCTACC	0.607													T	151504409	G	T	151504409	2	4	84	1	0	0	0	0	0	0	0	1	9142	1335	47	5		5	MAB21L2	4	151504409	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	13051712	151504409	39649867	357	55900											
FBXW7	55294	broad.mit.edu	37	chr4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgaagatgcatacaacGcacagtggaagtatgcccat	9	9	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:153249385G>A	uc003ims.2	-	9	1542	c.1393C>T	c.(1393-1395)CGT>TGT	p.R465C	FBXW7_uc011cii.1_Missense_Mutation_p.R465C|FBXW7_uc003imt.2_Missense_Mutation_p.R465C|FBXW7_uc011cih.1_Missense_Mutation_p.R289C|FBXW7_uc003imq.2_Missense_Mutation_p.R385C|FBXW7_uc003imr.2_Missense_Mutation_p.R347C	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	465	WD 3.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in a acute lymphoblastic leukemia cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R465C(52)|p.R465H(36)|p.R465L(2)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413			Mis|N|D|F		colorectal|endometrial|T-ALL								A	153249385	G	A	153249385	3	1	84	1	0	0	0	0	1	0	0	0	5769	1087	38	1	746	1	FBXW7	4	153249385	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1744976	153249385	37904891	358	55901											
TRIM2	23321	broad.mit.edu	37	chr4	154216859	154216859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcaacgcctacctcaccgCcgaactgagcacccccgacg	9	20	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:154216859C>T	uc003ing.2	+	6	1301	c.1100C>T	c.(1099-1101)GCC>GTC	p.A367V	TRIM2_uc003inh.2_Missense_Mutation_p.A394V	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	367	Filamin.					cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TACCTCACCGCCGAACTGAGC	0.602													T	154216859	C	T	154216859	3	4	84	1	0	0	0	0	1	0	0	0	16491	739	26	2	1203	2	TRIM2	4	154216859	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	967474	154216859	36937417	359	55902											
PDGFC	56034	broad.mit.edu	37	chr4	157688944	157688944	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtggtattttttagtaActttgcttgggacacattga	9	7	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:157688944A>G	uc003iph.1	-	5	1393	c.902T>C	c.(901-903)GTT>GCT	p.V301A	PDGFC_uc003ipi.1_Missense_Mutation_p.V138A|PDGFC_uc011cis.1_Missense_Mutation_p.V138A|PDGFC_uc011cir.1_Missense_Mutation_p.V145A	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	platelet-derived growth factor C precursor	301					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			ovary(1)|lung(1)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TTTTTTAGTAACTTTGCTTGG	0.398													G	157688944	A	G	157688944	3	3	84	1	0	0	0	0	1	0	0	0	11659	43	2	3	143	3	PDGFC	4	157688944	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	3472085	157688944	33465332	360	55903											
FAM198B	51313	broad.mit.edu	37	chr4	159092074	159092074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccttgccgcttcctgcgGctgaagggatggtccgacca	12	14	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:159092074G>A	uc003ipp.3	-	2	906	c.454C>T	c.(454-456)CCG>TCG	p.P152S	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.P152S|FAM198B_uc003ipr.3_Missense_Mutation_p.P152S|FAM198B_uc003ips.2_Missense_Mutation_p.P152S|uc003ipt.1_RNA	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	152	Extracellular (Potential).					Golgi membrane|integral to membrane					0						GCTTCCTGCGGCTGAAGGGAT	0.617													A	159092074	G	A	159092074	3	1	84	1	0	0	0	0	1	0	0	0	5529	1203	42	2	1226	2	FAM198B	4	159092074	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1403130	159092074	32062202	361	55904											
NPY5R	4889	broad.mit.edu	37	chr4	164271917	164271917	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttctgatagctactgtctgGacactaggttttgccatctg	9	9	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:164271917G>A	uc003iqn.2	+	4	674	c.492G>A	c.(490-492)TGG>TGA	p.W164*		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	164	Helical; Name=4; (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				lung(6)|skin(1)	7	all_hematologic(180;0.166)	Prostate(90;0.109)				CTACTGTCTGGACACTAGGTT	0.378													A	164271917	G	A	164271917	4	1	84	1	0	0	0	0	0	1	0	0	10610	1183	41	4	494	4	NPY5R	4	164271917	Nonsense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	5179843	164271917	26882359	362	55905											
TLL1	7092	broad.mit.edu	37	chr4	167022027	167022027	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccacacataccaaaaaatAacaccaaaacctctgtcaga	2	13	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:167022027A>G	uc003irh.1	+	21	3688	c.3041A>G	c.(3040-3042)TAA>TGA	p.*1014*	TLL1_uc011cjn.1_Silent_p.*1037*|TLL1_uc011cjo.1_Silent_p.*838*	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	1014					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ACCAAAAAATAACACCAAAAC	0.313													G	167022027	A	G	167022027	2	3	84	1	0	0	0	0	0	0	0	1	15942	369	13	3		3	TLL1	4	167022027	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2750110	167022027	24132249	363	55906											
WDR17	116966	broad.mit.edu	37	chr4	177050004	177050005	+	Frame_Shift_Ins	INS	-	-	A													tacttaattctcctccaagaINSaaaaagtgtaagtaaaaatg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:177050003_177050004G>GA	uc003iuj.3	+	6	1280_1281	c.977_978G>GA	c.(976-978)agafs	p.R326fs	WDR17_uc003ium.4_Frame_Shift_Ins_p.R302fs|WDR17_uc003iul.2_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	326										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		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;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCTCCTCCAAGAAAAAAGTGTA	0.248													A	177050005	-	A	177050004	7	5	84	1	0	1	1	0	0	0	0	0	17274	243	9	0	1000	0	WDR17	4	177050004	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	10027977	177050004	14104272	364	55907											
ODZ3	55714	broad.mit.edu	37	chr4	183710387	183710387	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggctgccaagcagcaagCtgatggccgtcaatgtcacc	11	13	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:183710387C>T	uc003ivd.1	+	24	5483	c.5446C>T	c.(5446-5448)CTG>TTG	p.L1816L		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1816	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AAGCAGCAAGCTGATGGCCGT	0.512													T	183710387	C	T	183710387	2	4	84	1	0	0	0	0	0	0	0	1	10836	796	28	2		2	ODZ3	4	183710387	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	6660383	183710387	7443889	365	55908											
ODZ3	55714	broad.mit.edu	37	chr4	183721042	183721042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatcgagggcaaggacacGcactacttcatcaagaccac	8	14	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:183721042G>A	uc003ivd.1	+	27	7675	c.7638G>A	c.(7636-7638)ACG>ACA	p.T2546T		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2546	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GCAAGGACACGCACTACTTCA	0.612													A	183721042	G	A	183721042	2	1	84	1	0	0	0	0	0	0	0	1	10836	1074	38	1		1	ODZ3	4	183721042	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	10655	183721042	7433234	366	55909											
C4orf41	60684	broad.mit.edu	37	chr4	184614279	184614279	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagttcactgggacagcaTtataattcaggcaagcacaa	9	8	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:184614279T>C	uc003ivx.2	+	20	2392	c.2216T>C	c.(2215-2217)ATT>ACT	p.I739T	C4orf41_uc003ivw.2_Missense_Mutation_p.I739T|C4orf41_uc010isc.2_Missense_Mutation_p.I83T|C4orf41_uc003ivy.2_Missense_Mutation_p.I345T	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	739				Missing (in Ref. 3; BAB14556).							0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		TGGGACAGCATTATAATTCAG	0.378													C	184614279	T	C	184614279	3	2	84	1	0	0	0	0	1	0	0	0	2270	1493	52	3	2290	3	C4orf41	4	184614279	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	893237	184614279	6539997	367	55910											
STOX2	56977	broad.mit.edu	37	chr4	184930544	184930545	+	Frame_Shift_Del	DEL	TG	TG	-													tcacgccctctgcctcaggcTgtgtcagggaaaggacattg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:184930543_184930544CTG>C	uc003ivz.1	+	2	1987_1988	c.552_553CTG>C	c.(550-555)ggctgtfs	p.G184fs	STOX2_uc003iwa.1_5'UTR	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	184					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTGCCTCAGGCTGTGTCAGGGA	0.564													-	184930545	TG	-	184930544	7	5	84	1	0	1	0	1	0	0	0	0	15319	1580	55	0	563	0	STOX2	4	184930544	Frame_Shift_Del	DEL	TG	TCGA-BR-8372-01A-11D-2340-08	316265	184930544	6223732	368	55911											
CASP3	836	broad.mit.edu	37	chr4	185552304	185552304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagtccagttctgtaccaCggcaggcctgggtgttagaa	12	11	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:185552304C>T	uc003iwh.2	-	7	754	c.491G>A	c.(490-492)CGT>CAT	p.R164H	CASP3_uc003iwg.2_Intron|CASP3_uc003iwi.2_Missense_Mutation_p.R164H	NM_004346	NP_004337	P42574	CASP3_HUMAN	caspase 3 preproprotein	164					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			kidney(1)	1		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	TTCTGTACCACGGCAGGCCTG	0.373													T	185552304	C	T	185552304	3	4	84	1	0	0	0	0	1	0	0	0	2672	536	19	1	350	1	CASP3	4	185552304	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	621760	185552304	5601972	369	55912											
SORBS2	8470	broad.mit.edu	37	chr4	186544439	186544439	+	Frame_Shift_Del	DEL	T	T	-													tctgtttcttaggagccgaaTtttttttcctccggaaaggc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:186544438_186544438AT>A	uc003iyg.3	-	12	2507	c.2475_2475AT>T	c.(2473-2475)aatfs	p.N825fs	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Frame_Shift_Del_p.N811fs|SORBS2_uc003iyl.3_Frame_Shift_Del_p.N711fs|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Frame_Shift_Del_p.N615fs|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	711						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TAGGAGCCGAATTTTTTTTCC	0.453													-	186544439	T	-	186544439	7	5	84	1	0	1	0	1	0	0	0	0	14928	1493	52	0	1206	0	SORBS2	4	186544439	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	992135	186544439	4609837	370	55913											
SORBS2	8470	broad.mit.edu	37	chr4	186545480	186545480	+	Frame_Shift_Del	DEL	T	T	-													tgctgctccagatttctgcgTtttgccgggccatttgccag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:186545480delT	uc003iyl.2	-	13	1949	c.1091delA	c.(1090-1092)AACfs	p.N364fs	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Frame_Shift_Del_p.N464fs|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Frame_Shift_Del_p.N268fs|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Frame_Shift_Del_p.N478fs|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	364						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GATTTCTGCGTTTTGCCGGGC	0.517													-	186545480	T	-	186545480	7	5	84	1	0	1	0	1	0	0	0	0	14928	1725	60	0	2247	0	SORBS2	4	186545480	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	1041	186545480	4608796	371	55914											
SLC6A19	340024	broad.mit.edu	37	chr5	1212549	1212549	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgcctggcctgcgcaTggagcgtcctgtacatgtgc	14	12	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:1212549T>C	uc003jbw.3	+	4	669	c.613T>C	c.(613-615)TGG>CGG	p.W205R		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	205	Helical; Name=4; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGCCTGCGCATGGAGCGTCCT	0.642													C	1212549	T	C	1212549	3	2	84	1	0	0	0	0	1	0	0	0	14682	1464	51	3	627	3	SLC6A19	5	1212549	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08		1212549	179702711	372	55915											
LPCAT1	79888	broad.mit.edu	37	chr5	1463936	1463936	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggtacatttctgcaaAcctgtggaagtcagctggaa	13	8	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:1463936A>G	uc003jcm.2	-	14	1552	c.1435T>C	c.(1435-1437)TTT>CTT	p.F479L	LPCAT1_uc003jcl.2_Missense_Mutation_p.F53L	NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	479	Lumenal (Potential).|EF-hand 2.				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ATTTCTGCAAACCTGTGGAAG	0.532													G	1463936	A	G	1463936	3	3	84	1	0	0	0	0	1	0	0	0	8910	43	2	3	173	3	LPCAT1	5	1463936	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	251387	1463936	179451324	373	55916											
IRX2	153572	broad.mit.edu	37	chr5	2748625	2748625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggccctgcagcgccgcGttcaagttcccgtagtttgt	11	15	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:2748625G>A	uc003jda.2	-	3	1439	c.1197C>T	c.(1195-1197)AAC>AAT	p.N399N	IRX2_uc003jdb.2_Silent_p.N399N	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	399						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		GCAGCGCCGCGTTCAAGTTCC	0.711													A	2748625	G	A	2748625	2	1	84	1	0	0	0	0	0	0	0	1	7844	1136	40	1		1	IRX2	5	2748625	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1284689	2748625	178166635	374	55917											
SEMA5A	9037	broad.mit.edu	37	chr5	9154802	9154802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcactttcttaatggttcCgtaatctatgaaggtcacag	8	10	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:9154802C>T	uc003jek.2	-	12	1991	c.1279G>A	c.(1279-1281)GGA>AGA	p.G427R		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	427	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						TTAATGGTTCCGTAATCTATG	0.498													T	9154802	C	T	9154802	3	4	84	1	0	0	0	0	1	0	0	0	14037	661	23	1	1993	1	SEMA5A	5	9154802	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	6406177	9154802	171760458	375	55918											
CDH10	1008	broad.mit.edu	37	chr5	24487830	24487830	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgctagcttattaaaccgaGggccccattctcggaggtaa	10	11	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:24487830G>C	uc003jgr.1	-	12	2641	c.2309C>G	c.(2308-2310)CCT>CGT	p.P770R	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	770	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		ATTAAACCGAGGGCCCCATTC	0.408										HNSCC(23;0.051)			C	24487830	G	C	24487830	3	2	84	1	0	0	0	0	1	0	0	0	3096	1000	35	5	61	5	CDH10	5	24487830	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	15333028	24487830	156427430	376	55919											
CDH10	1008	broad.mit.edu	37	chr5	24492959	24492959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgtgaagtttggattgaCagcagctaaactgaaaaaaa	9	5	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:24492959C>T	uc003jgr.1	-	10	1923	c.1591G>A	c.(1591-1593)GTC>ATC	p.V531I	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	531	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		TTTGGATTGACAGCAGCTAAA	0.338										HNSCC(23;0.051)			T	24492959	C	T	24492959	3	4	84	1	0	0	0	0	1	0	0	0	3096	478	17	4	787	4	CDH10	5	24492959	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	5129	24492959	156422301	377	55920											
CDH6	1004	broad.mit.edu	37	chr5	31313439	31313439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcaggtactctgtagatcGacacacagatatggacagaa	9	8	2	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:31313439G>A	uc003jhe.1	+	8	1594	c.1268G>A	c.(1267-1269)CGA>CAA	p.R423Q	CDH6_uc003jhd.1_Missense_Mutation_p.R423Q	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	423	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						TCTGTAGATCGACACACAGAT	0.363													A	31313439	G	A	31313439	3	1	84	1	0	0	0	0	1	0	0	0	3114	1058	37	1	1294	1	CDH6	5	31313439	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	6820480	31313439	149601821	378	55921											
C5orf22	55322	broad.mit.edu	37	chr5	31534463	31534463	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tacatttcgactcacatccaGacctccttattcctgtgaat	4	13	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:31534463G>T	uc003jhj.3	+	2	293	c.166G>T	c.(166-168)GAC>TAC	p.D56Y	RNASEN_uc003jhh.2_5'Flank|RNASEN_uc003jhg.2_5'Flank|RNASEN_uc003jhi.2_5'Flank|C5orf22_uc011cnw.1_RNA|C5orf22_uc003jhk.3_5'UTR	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	hypothetical protein LOC55322	56										ovary(2)	2						CTCACATCCAGACCTCCTTAT	0.398													T	31534463	G	T	31534463	3	4	84	1	0	0	0	0	1	0	0	0	2285	942	33	5	172	5	C5orf22	5	31534463	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	221024	31534463	149380797	379	55922											
ADAMTS12	81792	broad.mit.edu	37	chr5	33881309	33881309	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgagatggcagaggggggcaGaggaagccatcatcttaaca	15	7	2	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:33881309G>A	uc003jia.1	-	2	567	c.404C>T	c.(403-405)TCT>TTT	p.S135F	ADAMTS12_uc010iuq.1_Missense_Mutation_p.S135F|ADAMTS12_uc003jib.1_Missense_Mutation_p.S135F	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	135					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GAGGGGGGCAGAGGAAGCCAT	0.522										HNSCC(64;0.19)			A	33881309	G	A	33881309	3	1	84	1	0	0	0	0	1	0	0	0	257	942	33	4	4472	4	ADAMTS12	5	33881309	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	2346846	33881309	147033951	380	55923											
RAI14	26064	broad.mit.edu	37	chr5	34823885	34823885	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactcaataaacaggtgagCgagctgtcacagctgtacaa	10	9	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:34823885C>T	uc003jir.2	+	15	2134	c.1938C>T	c.(1936-1938)AGC>AGT	p.S646S	RAI14_uc010iur.2_Silent_p.S617S|RAI14_uc011coj.1_Silent_p.S646S|RAI14_uc003jis.2_Silent_p.S649S|RAI14_uc003jit.2_Silent_p.S646S|RAI14_uc011cok.1_Silent_p.S638S	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	646	Potential.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					AACAGGTGAGCGAGCTGTCAC	0.443													T	34823885	C	T	34823885	2	4	84	1	0	0	0	0	0	0	0	1	13008	767	27	1		1	RAI14	5	34823885	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	942576	34823885	146091375	381	55924											
NIPBL	25836	broad.mit.edu	37	chr5	37027460	37027460	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattcttttcatcacccttaGgttgcagcatgcagagatac	8	10	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:37027460G>T	uc003jkl.3	+	32	6308	c.5809_splice	c.e32-1	p.V1937_splice	NIPBL_uc003jkk.3_Splice_Site_p.V1937_splice	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A						brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATCACCCTTAGGTTGCAGCAT	0.323													T	37027460	G	T	37027460	5	4	84	1	0	0	0	0	0	0	1	0	10428	1014	35	5	5930	5	NIPBL	5	37027460	Splice_Site	SNP	G	TCGA-BR-8372-01A-11D-2340-08	2203575	37027460	143887800	382	55925											
C5orf42	65250	broad.mit.edu	37	chr5	37167150	37167150	+	Splice_Site	DEL	T	T	-													aatttcacttaagccttgccTttttttactgtcctttcctt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:37167149_37167149CT>C	uc011cpa.1	-	35	7631	c.7400_splice	c.e35+1	p.R2467_splice	C5orf42_uc011coy.1_Splice_Site_p.R967_splice|C5orf42_uc003jks.2_Splice_Site|C5orf42_uc011coz.1_Splice_Site_p.R1542_splice	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2467										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TAAGCCTTGCCTTTTTTTACT	0.328													-	37167150	T	-	37167150	8	5	84	1	0	1	0	1	0	0	1	0	2301	1623	56	0	2266	0	C5orf42	5	37167150	Splice_Site	DEL	T	TCGA-BR-8372-01A-11D-2340-08	139690	37167150	143748110	383	55926											
NUP155	9631	broad.mit.edu	37	chr5	37309266	37309266	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaaacattggaaaggtccActtgattgctaattttttga	7	7	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:37309266A>G	uc003jku.1	-	24	2850	c.2732T>C	c.(2731-2733)GTG>GCG	p.V911A	NUP155_uc003jkt.1_Missense_Mutation_p.V852A|NUP155_uc010iuz.1_Missense_Mutation_p.V847A	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	911					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAAAGGTCCACTTGATTGCT	0.328													G	37309266	A	G	37309266	3	3	84	1	0	0	0	0	1	0	0	0	10756	159	6	3	1491	3	NUP155	5	37309266	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	142116	37309266	143605994	384	55927											
C9	735	broad.mit.edu	37	chr5	39289038	39289039	+	Frame_Shift_Del	DEL	TA	TA	-													cattttcactggaaccagatTatatataggagacagctgaa							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:39289038_39289039delTA	uc003jlv.3	-	10	1520_1521	c.1431_1432delTA	c.(1429-1434)TATAATfs	p.Y477fs		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	477_478	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GGAACCAGATTATATATAGGAG	0.312													-	39289039	TA	-	39289038	7	5	84	1	0	1	0	1	0	0	0	0	2443	1754	61	0	255	0	C9	5	39289038	Frame_Shift_Del	DEL	TA	TCGA-BR-8372-01A-11D-2340-08	1979772	39289038	141626222	385	55928											
DAB2	1601	broad.mit.edu	37	chr5	39376883	39376883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagtctgctctcccttcCgcgcgggcacagcaggtggc	13	14	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:39376883C>T	uc003jlx.2	-	12	2537	c.2006G>A	c.(2005-2007)CGG>CAG	p.R669Q	DAB2_uc003jlw.2_Missense_Mutation_p.R648Q	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	669	Required for interaction with MYO6 (By similarity).				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			CTCTCCCTTCCGCGCGGGCAC	0.498											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	39376883	C	T	39376883	3	4	84	1	0	0	0	0	1	0	0	0	4218	652	23	1	318	1	DAB2	5	39376883	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	87845	39376883	141538377	386	55929											
NNT	23530	broad.mit.edu	37	chr5	43653189	43653189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccacccagggaacagcaCgtcttggcaatgcactgggc	11	14	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:43653189C>T	uc003joe.2	+	14	2188	c.1933C>T	c.(1933-1935)CGT>TGT	p.R645C	NNT_uc003jof.2_Missense_Mutation_p.R645C	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	645					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	GGGAACAGCACGTCTTGGCAA	0.542													T	43653189	C	T	43653189	3	4	84	1	0	0	0	0	1	0	0	0	10510	536	19	1	1983	1	NNT	5	43653189	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	4276306	43653189	137262071	387	55930											
ADAMTS6	11174	broad.mit.edu	37	chr5	64510656	64510656	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcattctgaccaaggcTgatgattccatgtaaagcca	9	10	1	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:64510656T>C	uc003jtp.2	-	20	3354	c.2540A>G	c.(2539-2541)CAG>CGG	p.Q847R	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.Q468R	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	847	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TGACCAAGGCTGATGATTCCA	0.458													C	64510656	T	C	64510656	3	2	84	1	0	0	0	0	1	0	0	0	270	1580	55	3	837	3	ADAMTS6	5	64510656	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	20857467	64510656	116404604	388	55931											
TMEM171	134285	broad.mit.edu	37	chr5	72424344	72424344	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaccccccttcatattacagTattttcaactatgggtaaga	5	10	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:72424344T>A	uc003kcm.2	+	3	972	c.768T>A	c.(766-768)AGT>AGA	p.S256R	TMEM171_uc003kcn.3_Missense_Mutation_p.S256R	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	transmembrane protein 171 isoform 1	256						integral to membrane					0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		CATATTACAGTATTTTCAACT	0.448													A	72424344	T	A	72424344	3	1	84	1	0	0	0	0	1	0	0	0	16085	1635	57	5	774	5	TMEM171	5	72424344	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	7913688	72424344	108490916	389	55932											
GFM2	84340	broad.mit.edu	37	chr5	74028896	74028896	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaactgggatcttcacgcTgaagacatttcaacgcatgt	8	10	4	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:74028896T>C	uc003kdh.1	-	16	1842	c.1538A>G	c.(1537-1539)CAG>CGG	p.Q513R	GFM2_uc003kdi.1_Missense_Mutation_p.Q466R|GFM2_uc010izj.1_Missense_Mutation_p.Q545R|GFM2_uc010izk.1_RNA	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	mitochondrial elongation factor G2 isoform 1	513					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity				0		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		ATCTTCACGCTGAAGACATTT	0.289													C	74028896	T	C	74028896	3	2	84	1	0	0	0	0	1	0	0	0	6342	1580	55	3	825	3	GFM2	5	74028896	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1604552	74028896	106886364	390	55933											
COL4A3BP	10087	broad.mit.edu	37	chr5	74712780	74712780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtgttgcaaggattccaGcagtagttgctttaaaagtt	10	5	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:74712780G>A	uc011csu.1	-	7	1180	c.758C>T	c.(757-759)GCT>GTT	p.A253V	COL4A3BP_uc003kds.2_Missense_Mutation_p.A253V|COL4A3BP_uc003kdt.2_Missense_Mutation_p.A381V|COL4A3BP_uc003kdu.2_Missense_Mutation_p.A253V	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	alpha 3 type IV collagen binding protein isoform	253					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			skin(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		AAGGATTCCAGCAGTAGTTGC	0.363													A	74712780	G	A	74712780	3	1	84	1	0	0	0	0	1	0	0	0	3692	971	34	2	1160	2	COL4A3BP	5	74712780	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	683884	74712780	106202480	391	55934											
IQGAP2	10788	broad.mit.edu	37	chr5	75954396	75954396	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacgattaagggaagaagtAgtgaccaagatcagggccaa	13	7	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:75954396A>G	uc003kek.2	+	21	2655	c.2433A>G	c.(2431-2433)GTA>GTG	p.V811V	IQGAP2_uc010izv.2_Silent_p.V364V|IQGAP2_uc011csv.1_Silent_p.V307V|IQGAP2_uc003kel.2_Silent_p.V307V	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	811					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)		GGGAAGAAGTAGTGACCAAGA	0.448													G	75954396	A	G	75954396	2	3	84	1	0	0	0	0	0	0	0	1	7815	407	15	3		3	IQGAP2	5	75954396	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1241616	75954396	104960864	392	55935											
PAPD4	167153	broad.mit.edu	37	chr5	78938657	78938658	+	Frame_Shift_Ins	INS	-	-	T													tatttttaacttttcagtgtINSttttttcaggtaaatcagaa							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:78938656_78938657G>GT	uc010jae.1	+	7	1092_1093	c.674_675G>GT	c.(673-675)tgtfs	p.C225fs	PAPD4_uc003kgb.2_Frame_Shift_Ins_p.C225fs|PAPD4_uc010jaf.1_Frame_Shift_Ins_p.C225fs|PAPD4_uc003kga.2_Intron|PAPD4_uc003kfz.2_Frame_Shift_Ins_p.C225fs	NM_001114393	NP_776158	Q6PIY7	GLD2_HUMAN	Homo sapiens PAP associated domain containing 4 (PAPD4), transcript variant 2, mRNA.	225					RNA polyadenylation|histone mRNA catabolic process|mRNA processing	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		ACTTTTCAGTGTTTTTTTCAGG	0.302													T	78938658	-	T	78938657	7	5	84	1	0	1	1	0	0	0	0	0	11424	1731	60	0	697	0	PAPD4	5	78938657	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	2984261	78938657	101976603	393	55936											
CMYA5	202333	broad.mit.edu	37	chr5	79034641	79034641	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccatcatgttctggagcgTgcagatgaagcaggcagtca	12	10	3	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:79034641T>C	uc003kgc.2	+	2	10125	c.10053T>C	c.(10051-10053)CGT>CGC	p.R3351R		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3351						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTCTGGAGCGTGCAGATGAAG	0.488													C	79034641	T	C	79034641	2	2	84	1	0	0	0	0	0	0	0	1	3590	1683	59	3		3	CMYA5	5	79034641	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	95984	79034641	101880619	394	55937											
VCAN	1462	broad.mit.edu	37	chr5	82875813	82875813	+	Frame_Shift_Del	DEL	C	C	-													ctttagtcgcttgcggccagCcccctgttgtagaaaatgcc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:82875812_82875812GC>G	uc003kii.3	+	13	10250	c.9894_9894GC>G	c.(9892-9894)cagfs	p.Q3298fs	VCAN_uc003kij.3_Frame_Shift_Del_p.Q2311fs|VCAN_uc010jau.2_Frame_Shift_Del_p.Q1544fs|VCAN_uc003kik.3_Frame_Shift_Del_p.Q557fs|VCAN_uc003kil.3_Frame_Shift_Del_p.Q1962fs	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	3298	Sushi.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTTGCGGCCAGCCCCCTGTTG	0.373													-	82875813	C	-	82875813	7	5	84	1	0	1	0	1	0	0	0	0	17135	739	26	0	9945	0	VCAN	5	82875813	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	3841172	82875813	98039447	395	55938											
GPR98	84059	broad.mit.edu	37	chr5	89949699	89949699	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atcctggaggatggtataatCgaattctacctggatggaaa	11	6	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:89949699C>A	uc003kju.2	+	20	4404	c.4308C>A	c.(4306-4308)ATC>ATA	p.I1436I	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1436	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGGTATAATCGAATTCTACC	0.423													A	89949699	C	A	89949699	2	1	84	1	0	0	0	0	0	0	0	1	6721	874	31	5		5	GPR98	5	89949699	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	7073886	89949699	90965561	396	55939											
MCC	4163	broad.mit.edu	37	chr5	112824010	112824010	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcatcctctcctcctcgccGgtgctggacgtgtcgctgct	11	17	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:112824010G>A	uc003kql.3	-	1	518	c.102C>T	c.(100-102)ACC>ACT	p.T34T		NM_001085377	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 1	562					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CCTCCTCGCCGGTGCTGGACG	0.378													A	112824010	G	A	112824010	2	1	84	1	0	0	0	0	0	0	0	1	9373	1103	39	1		1	MCC	5	112824010	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	22874311	112824010	68091250	397	55940											
ZNF608	57507	broad.mit.edu	37	chr5	123984684	123984684	+	Frame_Shift_Del	DEL	C	C	-													ccgcctccctttcccattggCcccccctctgttcttattct							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:123984683_123984683GC>G	uc003ktq.1	-	3	1577	c.1394_1394GC>C	c.(1393-1395)gccfs	p.A465fs	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Frame_Shift_Del_p.A465fs|ZNF608_uc003ktt.1_Frame_Shift_Del_p.A465fs	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	465						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTTCCCATTGGCCCCCCCTCT	0.627													-	123984684	C	-	123984684	7	5	84	1	0	1	0	1	0	0	0	0	18031	739	26	0	3169	0	ZNF608	5	123984684	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	11160674	123984684	56930576	398	55941											
GRAMD3	65983	broad.mit.edu	37	chr5	125819169	125819169	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttcaggatttcaatgatgaAttctcagatctggatggagt	10	5	4	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:125819169A>T	uc003ktu.2	+	9	1180	c.750A>T	c.(748-750)GAA>GAT	p.E250D	GRAMD3_uc011cwt.1_Missense_Mutation_p.E265D|GRAMD3_uc011cwv.1_Missense_Mutation_p.E258D|GRAMD3_uc011cww.1_Missense_Mutation_p.E146D|GRAMD3_uc011cwx.1_RNA|GRAMD3_uc011cwy.1_Missense_Mutation_p.E141D|GRAMD3_uc011cwz.1_Missense_Mutation_p.E234D|GRAMD3_uc011cwu.1_Missense_Mutation_p.E234D	NM_023927	NP_076416	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3 isoform 2	250										central_nervous_system(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		TCAATGATGAATTCTCAGATC	0.438													T	125819169	A	T	125819169	3	4	84	1	0	0	0	0	1	0	0	0	6751	98	4	5	998	5	GRAMD3	5	125819169	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1834485	125819169	55096091	399	55942											
GRAMD3	65983	broad.mit.edu	37	chr5	125821457	125821457	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccatattcttatattctaTgcaattgtgtaagtacatga	5	7	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:125821457T>C	uc003ktu.2	+	11	1480	c.1050T>C	c.(1048-1050)TAT>TAC	p.Y350Y	GRAMD3_uc011cwt.1_Silent_p.Y365Y|GRAMD3_uc011cwv.1_Silent_p.Y358Y|GRAMD3_uc011cww.1_Silent_p.Y246Y|GRAMD3_uc011cwx.1_RNA|GRAMD3_uc011cwy.1_Silent_p.Y241Y|GRAMD3_uc011cwz.1_Silent_p.Y334Y	NM_023927	NP_076416	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3 isoform 2	350										central_nervous_system(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		TTATATTCTATGCAATTGTGT	0.358													C	125821457	T	C	125821457	2	2	84	1	0	0	0	0	0	0	0	1	6751	1471	51	3		3	GRAMD3	5	125821457	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	2288	125821457	55093803	400	55943											
MEGF10	84466	broad.mit.edu	37	chr5	126783248	126783248	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catttccttcccttcttgcaGgaacccttcctcacagcaat	4	16	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:126783248G>T	uc003kuh.3	+	22	3091	c.2729_splice	c.e22-1	p.G910_splice	MEGF10_uc003kui.3_Splice_Site_p.G910_splice	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor						cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CCTTCTTGCAGGAACCCTTCC	0.423													T	126783248	G	T	126783248	5	4	84	1	0	0	0	0	0	0	1	0	9460	1014	35	5	2806	5	MEGF10	5	126783248	Splice_Site	SNP	G	TCGA-BR-8372-01A-11D-2340-08	961791	126783248	54132012	401	55944											
CHSY3	337876	broad.mit.edu	37	chr5	129243911	129243911	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatgggaggacctggcaTgatctttagccgagaagttc	13	8	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:129243911T>C	uc003kvd.2	+	2	944	c.944T>C	c.(943-945)ATG>ACG	p.M315T		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	315	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GGACCTGGCATGATCTTTAGC	0.502													C	129243911	T	C	129243911	3	2	84	1	0	0	0	0	1	0	0	0	3413	1464	51	3	950	3	CHSY3	5	129243911	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	2460663	129243911	51671349	402	55945											
SEPT8	23176	broad.mit.edu	37	chr5	132096635	132096635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcttttcctccaccttgCgcttctcctcctggtggacc	9	17	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:132096635C>T	uc003kxr.2	-	9	1383	c.1145G>A	c.(1144-1146)CGC>CAC	p.R382H	SEPT8_uc003kxs.1_Missense_Mutation_p.R382H|SEPT8_uc003kxu.2_Missense_Mutation_p.R382H|SEPT8_uc011cxi.1_Missense_Mutation_p.R380H|SEPT8_uc003kxv.2_Missense_Mutation_p.R380H|SEPT8_uc003kxt.2_Missense_Mutation_p.R322H	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	septin 8 isoform a	382	Potential.				cell cycle	septin complex	GTP binding|protein binding			ovary(2)	2		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCCACCTTGCGCTTCTCCTC	0.627													T	132096635	C	T	132096635	3	4	84	1	0	0	0	0	1	0	0	0	14070	768	27	1	369	1	SEPT8	5	132096635	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2852724	132096635	48818625	403	55946											
SEC24A	10802	broad.mit.edu	37	chr5	133996998	133996998	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgtggcctctaatccagTgacaccttcgcttcatagtg	8	13	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:133996998T>C	uc003kzs.2	+	2	575	c.287T>C	c.(286-288)GTG>GCG	p.V96A	SEC24A_uc011cxu.1_5'UTR	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	96	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTAATCCAGTGACACCTTCG	0.493													C	133996998	T	C	133996998	3	2	84	1	0	0	0	0	1	0	0	0	13994	1696	59	3	293	3	SEC24A	5	133996998	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1900363	133996998	46918262	404	55947											
TGFBI	7045	broad.mit.edu	37	chr5	135382977	135382977	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagattgtaactgtgaaCtgtgcccggctgctgaaagc	14	9	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:135382977C>T	uc003lbf.3	+	6	800	c.639C>T	c.(637-639)AAC>AAT	p.N213N	TGFBI_uc003lbg.3_5'UTR|TGFBI_uc003lbh.3_Silent_p.N39N|TGFBI_uc011cyb.1_Silent_p.N39N|TGFBI_uc010jed.2_5'Flank	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	213	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAACTGTGAACTGTGCCCGGC	0.522													T	135382977	C	T	135382977	2	4	84	1	0	0	0	0	0	0	0	1	15817	564	20	4		4	TGFBI	5	135382977	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1385979	135382977	45532283	405	55948											
CDC23	8697	broad.mit.edu	37	chr5	137537824	137537824	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctatcaactgtttcatcGtccttctttttttctccaga	4	11	4	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:137537824G>A	uc003lcl.2	-	4	424	c.393C>T	c.(391-393)GAC>GAT	p.D131D		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	cell division cycle protein 23	131					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTGTTTCATCGTCCTTCTTTT	0.254													A	137537824	G	A	137537824	2	1	84	1	0	0	0	0	0	0	0	1	3061	1136	40	1		1	CDC23	5	137537824	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	2154847	137537824	43377436	406	55949											
GFRA3	2676	broad.mit.edu	37	chr5	137610052	137610052	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggcagcggcgacggcggcAgcagcagcagcaacatcagg	17	12	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:137610052A>G	uc003lcn.2	-	1	202	c.62T>C	c.(61-63)CTG>CCG	p.L21P	GFRA3_uc003lco.2_Missense_Mutation_p.L21P	NM_001496	NP_001487	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3 preproprotein	21					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			cgacggcggcagcagcagcag	0.473													G	137610052	A	G	137610052	3	3	84	1	0	0	0	0	1	0	0	0	6349	188	7	3	1172	3	GFRA3	5	137610052	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	72228	137610052	43305208	407	55950											
KDM3B	51780	broad.mit.edu	37	chr5	137756625	137756625	+	Frame_Shift_Del	DEL	C	C	-													tggacacaggcataccctttCccccggtcttctctacatcc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:137756624_137756624TC>T	uc003lcy.1	+	14	4145	c.3945_3945TC>T	c.(3943-3945)tttfs	p.F1315fs	KDM3B_uc010jew.1_Frame_Shift_Del_p.F971fs|KDM3B_uc011cys.1_Frame_Shift_Del_p.F347fs	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1315					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCATACCCTTTCCCCCGGTCT	0.507													-	137756625	C	-	137756625	7	5	84	1	0	1	0	1	0	0	0	0	8127	855	30	0	4004	0	KDM3B	5	137756625	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	146573	137756625	43158635	408	55951											
CTNNA1	1495	broad.mit.edu	37	chr5	138118937	138118937	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgttctaagaaggcccaTgttttggctgcatctgttga	12	8	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:138118937T>C	uc003ldh.2	+	3	272	c.177T>C	c.(175-177)CAT>CAC	p.H59H	CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_5'UTR|CTNNA1_uc003ldi.2_Missense_Mutation_p.M1T|CTNNA1_uc003ldj.2_Silent_p.H59H	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	59	Involved in homodimerization.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	p.H59Y(1)		breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGAAGGCCCATGTTTTGGCTG	0.418													C	138118937	T	C	138118937	2	2	84	1	0	0	0	0	0	0	0	1	4012	1461	51	3		3	CTNNA1	5	138118937	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	362312	138118937	42796323	409	55952											
LRRTM2	26045	broad.mit.edu	37	chr5	138209437	138209437	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcatcgtttcaaacacTgtcaagtcgatggctttgat	10	8	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:138209437T>C	uc011cyz.1	-	2	1270	c.813A>G	c.(811-813)ACA>ACG	p.T271T	CTNNA1_uc003ldh.2_Intron|CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Silent_p.T137T|CTNNA1_uc003ldl.2_5'Flank	NM_015564	NP_056379	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	271	LRR 9.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTCAAACACTGTCAAGTCGA	0.423													C	138209437	T	C	138209437	2	2	84	1	0	0	0	0	0	0	0	1	9040	1567	55	3		3	LRRTM2	5	138209437	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	90500	138209437	42705823	410	55953											
SLC4A9	83697	broad.mit.edu	37	chr5	139742537	139742537	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcgggccagcaaccttcatgAccttctggcagccctggatg	11	14	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:139742537A>T	uc003lfm.2	+	7	955	c.920A>T	c.(919-921)GAC>GTC	p.D307V	SLC4A9_uc003lfj.2_Missense_Mutation_p.D283V|SLC4A9_uc011czg.1_Missense_Mutation_p.D283V|SLC4A9_uc003lfl.2_Missense_Mutation_p.D283V|SLC4A9_uc003lfk.2_Missense_Mutation_p.D283V	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	307	Cytoplasmic (Potential).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCTTCATGACCTTCTGGCA	0.572											OREG0016461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	139742537	A	T	139742537	3	4	84	1	0	0	0	0	1	0	0	0	14660	275	10	5	874	5	SLC4A9	5	139742537	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1533100	139742537	41172723	411	55954											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139893056	139893056	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcttttaaaggaacttgatCtggaaaaggtgagtgggaaa	12	3	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:139893056C>A	uc003lfs.1	+	24	4433	c.4309C>A	c.(4309-4311)CTG>ATG	p.L1437M	ANKHD1_uc003lfq.1_Missense_Mutation_p.L1456M|ANKHD1_uc003lfr.2_Missense_Mutation_p.L1437M|ANKHD1_uc003lft.1_Missense_Mutation_p.L648M|ANKHD1_uc003lfu.1_Missense_Mutation_p.L917M|ANKHD1_uc003lfv.1_Missense_Mutation_p.L514M|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.L176M|ANKHD1_uc003lfw.2_Missense_Mutation_p.L75M	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1437						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACTTGATCTGGAAAAGGT	0.284													A	139893056	C	A	139893056	3	1	84	1	0	0	0	0	1	0	0	0	629	912	32	5	4403	5	ANKHD1-EIF4EBP3	5	139893056	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	150519	139893056	41022204	412	55955											
CD14	929	broad.mit.edu	37	chr5	140012551	140012551	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcagcagcagcaacaaGcaggacgcgcgctcctgggg	16	13	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140012551G>C	uc003lgi.1	-	2	372	c.18C>G	c.(16-18)TGC>TGG	p.C6W	CD14_uc003lgj.1_Missense_Mutation_p.C6W	NM_000591	NP_000582	P08571	CD14_HUMAN	CD14 antigen precursor	6					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCAACAAGCAGGACGCGC	0.632													C	140012551	G	C	140012551	3	2	84	1	0	0	0	0	1	0	0	0	2964	963	34	5	1113	5	CD14	5	140012551	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	119495	140012551	40902709	413	55956											
WDR55	54853	broad.mit.edu	37	chr5	140044509	140044509	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctcagcatggaccgcacTtgtgaggagaggcccgctga	13	12	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140044509T>C	uc003lgr.3	+	1	126	c.12T>C	c.(10-12)ACT>ACC	p.T4T		NM_017706	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	4					rRNA processing	cytoplasm|nucleolus				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCGCACTTGTGAGGAGA	0.662													C	140044509	T	C	140044509	2	2	84	1	0	0	0	0	0	0	0	1	17304	1596	56	3		3	WDR55	5	140044509	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	31958	140044509	40870751	414	55957											
PCDHA4	56144	broad.mit.edu	37	chr5	140188560	140188560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtggcaaaggtgcgcgcGgtggatgctgactcgggcta	19	8	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140188560G>A	uc003lhi.2	+	1	1889	c.1788G>A	c.(1786-1788)GCG>GCA	p.A596A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.A596A|PCDHA4_uc011daa.1_Silent_p.A596A	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	596	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCGCGCGGTGGATGCTG	0.697													A	140188560	G	A	140188560	2	1	84	1	0	0	0	0	0	0	0	1	11526	1103	39	1		1	PCDHA4	5	140188560	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	144051	140188560	40726700	415	55958											
PCDHA8	56140	broad.mit.edu	37	chr5	140221266	140221266	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggttttccatgtggaCgtggaggtgaaggatgttaa	15	5	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140221266C>T	uc003lhs.2	+	1	360	c.360C>T	c.(358-360)GAC>GAT	p.D120D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.D120D	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	120	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCATGTGGACGTGGAGGTGA	0.567													T	140221266	C	T	140221266	2	4	84	1	0	0	0	0	0	0	0	1	11530	535	19	1		1	PCDHA8	5	140221266	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	32706	140221266	40693994	416	55959											
PCDHA8	56140	broad.mit.edu	37	chr5	140221296	140221296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggatgttaatgacaacccGccagtgttccgggtaaaaga	11	8	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140221296G>A	uc003lhs.2	+	1	390	c.390G>A	c.(388-390)CCG>CCA	p.P130P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.P130P	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	130	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACAACCCGCCAGTGTTCC	0.562													A	140221296	G	A	140221296	2	1	84	1	0	0	0	0	0	0	0	1	11530	1074	38	1		1	PCDHA8	5	140221296	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	30	140221296	40693964	417	55960											
PCDHA8	56140	broad.mit.edu	37	chr5	140222880	140222880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggatcatggtgaacctgcGctgaccgccacggccacggt	13	13	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140222880G>A	uc003lhs.2	+	1	1974	c.1974G>A	c.(1972-1974)GCG>GCA	p.A658A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.A658A	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	658	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAACCTGCGCTGACCGCCA	0.652													A	140222880	G	A	140222880	2	1	84	1	0	0	0	0	0	0	0	1	11530	1074	38	1		1	PCDHA8	5	140222880	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1584	140222880	40692380	418	55961											
PCDHB3	56132	broad.mit.edu	37	chr5	140481379	140481379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagacaacggaagagtgatGtgttccattgagaacaatct	12	6	1	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140481379G>A	uc003lio.2	+	1	1146	c.1146G>A	c.(1144-1146)ATG>ATA	p.M382I	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	382	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGAGTGATGTGTTCCATTG	0.473													A	140481379	G	A	140481379	3	1	84	1	0	0	0	0	1	0	0	0	11543	1377	48	4	1148	4	PCDHB3	5	140481379	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	258499	140481379	40433881	419	55962											
PCDHB5	26167	broad.mit.edu	37	chr5	140515740	140515740	+	Frame_Shift_Del	DEL	T	T	-													ataatgacaacgcccccgaaTttttacaatcattctatgag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140515740delT	uc003liq.2	+	1	941	c.724delT	c.(724-726)TTTfs	p.F242fs		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	242	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCCCCGAATTTTTACAATC	0.517													-	140515740	T	-	140515740	7	5	84	1	0	1	0	1	0	0	0	0	11545	1493	52	0	726	0	PCDHB5	5	140515740	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	34361	140515740	40399520	420	55963											
PCDHB5	26167	broad.mit.edu	37	chr5	140516594	140516594	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacgaggccctgcaggcgttCgagttccgcgtgggagccac	15	13	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140516594C>T	uc003liq.2	+	1	1795	c.1578C>T	c.(1576-1578)TTC>TTT	p.F526F		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	526	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGGCGTTCGAGTTCCGCG	0.687													T	140516594	C	T	140516594	2	4	84	1	0	0	0	0	0	0	0	1	11545	883	31	1		1	PCDHB5	5	140516594	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	854	140516594	40398666	421	55964											
PCDHB9	56127	broad.mit.edu	37	chr5	140569068	140569068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctcggtgggtcgctgctCggtgcccgagggtccttttc	16	13	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140569068C>T	uc003liw.1	+	3	2177	c.2177C>T	c.(2176-2178)TCG>TTG	p.S726L	PCDHB10_uc003lix.2_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	726	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCGCTGCTCGGTGCCCGAG	0.657													T	140569068	C	T	140569068	3	4	84	1	0	0	0	0	1	0	0	0	11549	875	31	1	2178	1	PCDHB9	5	140569068	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	52474	140569068	40346192	422	55965											
PCDHB11	56125	broad.mit.edu	37	chr5	140581656	140581656	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcaagttcctaaaaccggTtatccctaatatccaggcaa	5	11	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140581656T>C	uc003liy.2	+	1	2309	c.2309T>C	c.(2308-2310)GTT>GCT	p.V770A	PCDHB11_uc011daj.1_Missense_Mutation_p.V405A	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	770	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAAAACCGGTTATCCCTAAT	0.443													C	140581656	T	C	140581656	3	2	84	1	0	0	0	0	1	0	0	0	11536	1725	60	3	2311	3	PCDHB11	5	140581656	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	12588	140581656	40333604	423	55966											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768044	140768044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgagatggtattgaagaCacctttggacagagaaaagc	11	8	0	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140768044C>T	uc003lkc.1	+	1	593	c.593C>T	c.(592-594)ACA>ATA	p.T198I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.T198I	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	198	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|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)			GTATTGAAGACACCTTTGGAC	0.433													T	140768044	C	T	140768044	3	4	84	1	0	0	0	0	1	0	0	0	11565	478	17	4	595	4	PCDHGB4	5	140768044	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	186388	140768044	40147216	424	55967											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768489	140768489	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaacgccccagaagtgatAttccagtctctacccaacct	6	15	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140768489A>G	uc003lkc.1	+	1	1038	c.1038A>G	c.(1036-1038)ATA>ATG	p.I346M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.I346M	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	346	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|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)			CAGAAGTGATATTCCAGTCTC	0.468													G	140768489	A	G	140768489	3	3	84	1	0	0	0	0	1	0	0	0	11565	439	16	3	1040	3	PCDHGB4	5	140768489	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	445	140768489	40146771	425	55968											
PCDHGB5	56101	broad.mit.edu	37	chr5	140779134	140779134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctggacttggggttgaaCggccaagtctcctactctat	11	11	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140779134C>T	uc003lkf.1	+	1	1440	c.1440C>T	c.(1438-1440)AAC>AAT	p.N480N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.N480N	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	480	Extracellular (Potential).|Cadherin 5.				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)			TGGGGTTGAACGGCCAAGTCT	0.597													T	140779134	C	T	140779134	2	4	84	1	0	0	0	0	0	0	0	1	11566	535	19	1		1	PCDHGB5	5	140779134	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	10645	140779134	40136126	426	55969											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812079	140812079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccgctccgcagagcccGgctacctggtgaccaaggtg	12	17	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140812079G>A	uc003lkt.1	+	1	1922	c.1753G>A	c.(1753-1755)GGC>AGC	p.G585S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.G585S	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	585	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGAGCCCGGCTACCTGGT	0.677													A	140812079	G	A	140812079	3	1	84	1	0	0	0	0	1	0	0	0	11553	1116	39	1	1755	1	PCDHGA12	5	140812079	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	32945	140812079	40103181	427	55970											
GRXCR2	643226	broad.mit.edu	37	chr5	145246164	145246164	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctttgttcatcagagacTcttcctcagcctcctcttcc	4	16	6	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:145246164T>G	uc003lns.1	-	2	464	c.464A>C	c.(463-465)GAG>GCG	p.E155A		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	155											0						CATCAGAGACTCTTCCTCAGC	0.443													G	145246164	T	G	145246164	3	3	84	1	0	0	0	0	1	0	0	0	6813	1551	54	5	290	5	GRXCR2	5	145246164	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	4434085	145246164	35669096	428	55971											
GRXCR2	643226	broad.mit.edu	37	chr5	145246209	145246209	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaattttcctcacaaaaTctctcttgtccattggggtt	8	9	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:145246209T>C	uc003lns.1	-	2	419	c.419A>G	c.(418-420)GAT>GGT	p.D140G		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	140											0						CCTCACAAAATCTCTCTTGTC	0.418													C	145246209	T	C	145246209	3	2	84	1	0	0	0	0	1	0	0	0	6813	1435	50	3	335	3	GRXCR2	5	145246209	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	45	145246209	35669051	429	55972											
TCERG1	10915	broad.mit.edu	37	chr5	145838519	145838519	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagttaaggttattcagcaaTcagaactgacacctatgctt	8	8	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:145838519T>C	uc003lob.2	+	4	551	c.511T>C	c.(511-513)TCA>CCA	p.S171P	TCERG1_uc003loc.2_Missense_Mutation_p.S171P|TCERG1_uc011dbt.1_Missense_Mutation_p.S171P	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	171	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TATTCAGCAATCAGAACTGAC	0.259													C	145838519	T	C	145838519	3	2	84	1	0	0	0	0	1	0	0	0	15682	1435	50	3	525	3	TCERG1	5	145838519	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	592310	145838519	35076741	430	55973											
ADRB2	154	broad.mit.edu	37	chr5	148206692	148206692	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atattcttatgaaaatgtggActtttggcaacttctggtgc	9	6	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:148206692A>G	uc003lpr.1	+	1	537	c.298A>G	c.(298-300)ACT>GCT	p.T100A	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	100	Extracellular.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	GAAAATGTGGACTTTTGGCAA	0.532													G	148206692	A	G	148206692	3	3	84	1	0	0	0	0	1	0	0	0	341	275	10	3	300	3	ADRB2	5	148206692	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2368173	148206692	32708568	431	55974											
IL17B	27190	broad.mit.edu	37	chr5	148754068	148754068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcacgctcaccatgctgCggtcctcctgcatggtgaag	12	15	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:148754068C>T	uc003lqo.2	-	3	457	c.407G>A	c.(406-408)CGC>CAC	p.R136H		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	interleukin 17B precursor	136					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity	p.R136C(1)		central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCATGCTGCGGTCCTCCTG	0.692													T	148754068	C	T	148754068	3	4	84	1	0	0	0	0	1	0	0	0	7635	768	27	1	139	1	IL17B	5	148754068	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	547376	148754068	32161192	432	55975											
TCOF1	6949	broad.mit.edu	37	chr5	149777932	149777932	+	Frame_Shift_Del	DEL	A	A	-													cttaggaaaaaaagacaaagAaaaaaaagaaaagaagaaga							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:149777931_149777931GA>G	uc003lry.3	+	24	4465	c.4357_4357GA>G	c.(4357-4359)gaafs	p.E1453fs	TCOF1_uc003lrz.3_Frame_Shift_Del_p.E1415fs|TCOF1_uc011dch.2_Frame_Shift_Del_p.E1416fs|TCOF1_uc003lrx.3_Frame_Shift_Del_p.E1377fs|TCOF1_uc003lsa.3_Frame_Shift_Del_p.E1376fs	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	1453	Poly-Lys.				skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			aaaagacaaagaaaaaaaaga	0.423													-	149777932	A	-	149777932	7	5	84	1	0	1	0	1	0	0	0	0	15705	246	9	0	4481	0	TCOF1	5	149777932	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	1023864	149777932	31137328	433	55976											
NDST1	3340	broad.mit.edu	37	chr5	149900850	149900850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgcctccggaggctgtgtCggcacgtgtccccgcaggct	14	15	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:149900850C>T	uc003lsk.3	+	2	536	c.34C>T	c.(34-36)CGG>TGG	p.R12W	NDST1_uc011dcj.1_Missense_Mutation_p.R12W|NDST1_uc003lsl.2_Missense_Mutation_p.R12W	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	12	Cytoplasmic (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGGCTGTGTCGGCACGTGTC	0.642													T	149900850	C	T	149900850	3	4	84	1	0	0	0	0	1	0	0	0	10255	875	31	1	36	1	NDST1	5	149900850	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	122918	149900850	31014410	434	55977											
SYNPO	11346	broad.mit.edu	37	chr5	150029322	150029322	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcacggatggagaaatatgtCatcgagtcttcaagccacac	9	10	4	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:150029322C>T	uc003lsn.2	+	3	2591	c.2217C>T	c.(2215-2217)GTC>GTT	p.V739V	SYNPO_uc003lso.3_Silent_p.V495V|SYNPO_uc003lsp.2_Silent_p.V495V	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	739					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAAATATGTCATCGAGTCTT	0.622													T	150029322	C	T	150029322	2	4	84	1	0	0	0	0	0	0	0	1	15453	813	29	4		4	SYNPO	5	150029322	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	128472	150029322	30885938	435	55978											
SLC36A1	206358	broad.mit.edu	37	chr5	150867571	150867571	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccatcctcatcccccgccTggacctggtcatctccctgg	9	19	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:150867571T>C	uc003luc.2	+	11	1404	c.1187T>C	c.(1186-1188)CTG>CCG	p.L396P	GM2A_uc011dcs.1_Intron	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 member 1	396	Extracellular (Potential).				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			skin(1)	1		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	ATCCCCCGCCTGGACCTGGTC	0.612													C	150867571	T	C	150867571	3	2	84	1	0	0	0	0	1	0	0	0	14593	1580	55	3	1225	3	SLC36A1	5	150867571	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	838249	150867571	30047689	436	55979											
FAT2	2196	broad.mit.edu	37	chr5	150945734	150945734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcactggggagagttgTcgttgacatcctccaatgtg	13	8	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:150945734T>C	uc003lue.3	-	1	2772	c.2759A>G	c.(2758-2760)GAC>GGC	p.D920G	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.D920G	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	920	Extracellular (Potential).|Cadherin 7.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGAGAGTTGTCGTTGACATC	0.547													C	150945734	T	C	150945734	3	2	84	1	0	0	0	0	1	0	0	0	5690	1667	58	3	10382	3	FAT2	5	150945734	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	78163	150945734	29969526	437	55980											
KIF4B	285643	broad.mit.edu	37	chr5	154394309	154394309	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccaagttaactcgactgcTgcaagattctctaggaggta	9	9	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:154394309T>C	uc010jih.1	+	1	1050	c.890T>C	c.(889-891)CTG>CCG	p.L297P		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	297	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTCGACTGCTGCAAGATTCT	0.463													C	154394309	T	C	154394309	3	2	84	1	0	0	0	0	1	0	0	0	8304	1580	55	3	892	3	KIF4B	5	154394309	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	3448575	154394309	26520951	438	55981											
ADAM19	8728	broad.mit.edu	37	chr5	156918635	156918635	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactcactctcagggggcaTaggcccactgtcgatactgc	11	14	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:156918635T>C	uc003lwz.2	-	18	2147	c.2083A>G	c.(2083-2085)ATG>GTG	p.M695V	ADAM19_uc003lww.1_Missense_Mutation_p.M428V|ADAM19_uc003lwy.2_Missense_Mutation_p.M294V|ADAM19_uc011ddr.1_Missense_Mutation_p.M626V	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	695	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCAGGGGGCATAGGCCCACTG	0.637													C	156918635	T	C	156918635	3	2	84	1	0	0	0	0	1	0	0	0	240	1406	49	3	697	3	ADAM19	5	156918635	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	2524326	156918635	23996625	439	55982											
SOX30	11063	broad.mit.edu	37	chr5	157078216	157078216	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttagtaggcactggtgtcaGggggaccttggtcaatctta	13	7	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:157078216G>T	uc003lxb.1	-	1	1213	c.871C>A	c.(871-873)CTG>ATG	p.L291M	SOX30_uc003lxc.1_Missense_Mutation_p.L291M|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	291					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACTGGTGTCAGGGGGACCTTG	0.547													T	157078216	G	T	157078216	3	4	84	1	0	0	0	0	1	0	0	0	14952	991	35	5	1410	5	SOX30	5	157078216	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	159581	157078216	23837044	440	55983											
WWC1	23286	broad.mit.edu	37	chr5	167887732	167887732	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactccctggagcgacgcagCgtccggatgaagcgggtaag	15	11	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:167887732C>T	uc003lzu.2	+	20	2994	c.2901C>T	c.(2899-2901)AGC>AGT	p.S967S	WWC1_uc003lzv.2_Silent_p.S967S|WWC1_uc011den.1_Silent_p.S967S|WWC1_uc003lzw.2_Silent_p.S766S|WWC1_uc010jjf.1_Silent_p.S239S	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	967	Interaction with PRKCZ.|Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGCGACGCAGCGTCCGGATGA	0.517													T	167887732	C	T	167887732	2	4	84	1	0	0	0	0	0	0	0	1	17408	767	27	1		1	WWC1	5	167887732	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	10809516	167887732	13027528	441	55984											
DOCK2	1794	broad.mit.edu	37	chr5	169141166	169141166	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgtcagctcccgggaTgtgttctccatttccaccct	7	15	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:169141166T>C	uc003maf.2	+	18	1874	c.1794T>C	c.(1792-1794)GAT>GAC	p.D598D	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.D90D|DOCK2_uc010jjl.1_Silent_p.D116D	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	598	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTCCCGGGATGTGTTCTCCA	0.502													C	169141166	T	C	169141166	2	2	84	1	0	0	0	0	0	0	0	1	4687	1461	51	3		3	DOCK2	5	169141166	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1253434	169141166	11774094	442	55985											
DOCK2	1794	broad.mit.edu	37	chr5	169435557	169435557	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcacccaggattctctgcaGctggagcagttctcacacgc	9	14	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:169435557G>A	uc003maf.2	+	31	3209	c.3129G>A	c.(3127-3129)CAG>CAA	p.Q1043Q	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.Q535Q	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1043	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTCTCTGCAGCTGGAGCAGT	0.448													A	169435557	G	A	169435557	2	1	84	1	0	0	0	0	0	0	0	1	4687	962	34	2		2	DOCK2	5	169435557	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	294391	169435557	11479703	443	55986											
FOXI1	2299	broad.mit.edu	37	chr5	169533111	169533111	+	Frame_Shift_Del	DEL	G	G	-													cctcagcggccctccttcgaGgggggcggcgagtatggggc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:169533111delG	uc003mai.3	+	1	195	c.150delG	c.(148-150)GAGfs	p.E50fs	FOXI1_uc003maj.3_Frame_Shift_Del_p.E50fs	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	50	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTCCTTCGAGGGGGGCGGCG	0.682									Pendred_syndrome				-	169533111	G	-	169533111	7	5	84	1	0	1	0	1	0	0	0	0	6009	991	35	0	152	0	FOXI1	5	169533111	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	97554	169533111	11382149	444	55987											
LCP2	3937	broad.mit.edu	37	chr5	169679461	169679461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttatctttctaagagcagCttctgcctctggtcgggtaa	10	9	4	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:169679461C>T	uc003man.1	-	19	1507	c.1300G>A	c.(1300-1302)GCT>ACT	p.A434T	C5orf58_uc003mal.2_RNA|LCP2_uc011des.1_Missense_Mutation_p.A229T|LCP2_uc011det.1_Missense_Mutation_p.A263T	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	434	SH2.				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CTAAGAGCAGCTTCTGCCTCT	0.333													T	169679461	C	T	169679461	3	4	84	1	0	0	0	0	1	0	0	0	8692	797	28	2	313	2	LCP2	5	169679461	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	146350	169679461	11235799	445	55988											
NPM1	4869	broad.mit.edu	37	chr5	170827872	170827872	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatactccagccaaaaatgcAcaaaagtcaaatcagaatgg	7	9	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:170827872A>G	uc011dex.1	+	9	747	c.612A>G	c.(610-612)GCA>GCG	p.A204A	NPM1_uc003mbh.2_Silent_p.A204A|NPM1_uc003mbi.2_Silent_p.A204A|NPM1_uc003mbj.2_Intron	NM_002520	NP_002511	P06748	NPM_HUMAN	nucleophosmin 1 isoform 1	204					anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	haematopoietic_and_lymphoid_tissue(3109)|skin(1)	3110	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCAAAAATGCACAAAAGTCAA	0.398			T|F 	ALK|RARA|MLF1	NHL|APL|AML								G	170827872	A	G	170827872	2	3	84	1	0	0	0	0	0	0	0	1	10587	146	6	3		3	NPM1	5	170827872	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1148411	170827872	10087388	446	55989											
NKX2-5	1482	broad.mit.edu	37	chr5	172660103	172660103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctccagctcatagacctgCgcctgcgagaagagcacgcg	12	15	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:172660103C>T	uc003mcm.1	-	2	620	c.444G>A	c.(442-444)GCG>GCA	p.A148A	NKX2-5_uc011dfe.1_3'UTR|NKX2-5_uc010jjt.1_3'UTR	NM_004387	NP_004378	P52952	NKX25_HUMAN	NK2 transcription factor related, locus 5	148	Homeobox.				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CATAGACCTGCGCCTGCGAGA	0.697													T	172660103	C	T	172660103	2	4	84	1	0	0	0	0	0	0	0	1	10453	755	27	1		1	NKX2-5	5	172660103	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1832231	172660103	8255157	447	55990											
CPEB4	80315	broad.mit.edu	37	chr5	173317507	173317507	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtctcctgccagtccccaTcccccacccttcacacatag	5	20	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:173317507T>C	uc003mcs.3	+	1	2177	c.771T>C	c.(769-771)CAT>CAC	p.H257H	CPEB4_uc010jju.1_Silent_p.H257H|CPEB4_uc010jjv.2_Silent_p.H257H|CPEB4_uc011dfg.1_Silent_p.H257H|CPEB4_uc003mct.3_5'Flank|CPEB4_uc003mcu.3_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	257							nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCAGTCCCCATCCCCCACCCT	0.542													C	173317507	T	C	173317507	2	2	84	1	0	0	0	0	0	0	0	1	3803	1432	50	3		3	CPEB4	5	173317507	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	657404	173317507	7597753	448	55991											
CDHR2	54825	broad.mit.edu	37	chr5	176004429	176004429	+	Frame_Shift_Del	DEL	G	G	-													ggcaccttcctgttgtcgctGgggggccccgatgcagaagc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:176004429delG	uc003mem.1	+	13	1290	c.1224delG	c.(1222-1224)CTGfs	p.L408fs	CDHR2_uc003men.1_Frame_Shift_Del_p.L408fs	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	408	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						TGTTGTCGCTGGGGGGCCCCG	0.652													-	176004429	G	-	176004429	7	5	84	1	0	1	0	1	0	0	0	0	3119	1335	47	0	1270	0	CDHR2	5	176004429	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	2686922	176004429	4910831	449	55992											
DOK3	79930	broad.mit.edu	37	chr5	176931771	176931771	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagccgaacttgcgcaggaaGtggtagggccagctgtagag	17	8	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:176931771G>T	uc003mhk.2	-	5	791	c.786C>A	c.(784-786)CAC>CAA	p.H262Q	DOK3_uc003mhh.3_Missense_Mutation_p.H92Q|DOK3_uc003mhi.3_Missense_Mutation_p.H206Q|DOK3_uc003mhj.3_Missense_Mutation_p.H104Q|DOK3_uc003mhl.2_Missense_Mutation_p.H206Q	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	docking protein 3 isoform 1	262	IRS-type PTB.					cytoplasm|plasma membrane	insulin receptor binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TGCGCAGGAAGTGGTAGGGCC	0.682													T	176931771	G	T	176931771	3	4	84	1	0	0	0	0	1	0	0	0	4698	1020	36	5	1064	5	DOK3	5	176931771	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	927342	176931771	3983489	450	55993											
AGXT2L2	85007	broad.mit.edu	37	chr5	177651531	177651531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggttggggtggtcctccCggtaggggccccggtaggtg	20	10	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:177651531C>T	uc003miz.2	-	6	788	c.536G>A	c.(535-537)CGG>CAG	p.R179Q	AGXT2L2_uc003miy.2_5'UTR|AGXT2L2_uc003mjc.2_Missense_Mutation_p.R138Q|AGXT2L2_uc003mja.2_RNA|AGXT2L2_uc003mjb.2_Intron|AGXT2L2_uc003mjd.1_Missense_Mutation_p.R37Q	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	alanine-glyoxylate aminotransferase 2-like 2	179						mitochondrion	pyridoxal phosphate binding|transaminase activity			pancreas(1)	1	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GTGGTCCTCCCGGTAGGGGCC	0.627													T	177651531	C	T	177651531	3	4	84	1	0	0	0	0	1	0	0	0	407	652	23	1	844	1	AGXT2L2	5	177651531	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	719760	177651531	3263729	451	55994											
LYRM4	57128	broad.mit.edu	37	chr6	5216852	5216852	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcattgaaccatcttaccTgtcgacgaattactccaagg	6	12	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:5216852T>G	uc003mwp.2	-	2	408	c.206A>C	c.(205-207)CAG>CCG	p.Q69P	LYRM4_uc010jnu.2_Missense_Mutation_p.Q69P|LYRM4_uc003mwq.2_Intron|uc003mwn.1_Intron	NM_020408	NP_065141	Q9HD34	LYRM4_HUMAN	LYR motif containing 4 isoform 1	69						mitochondrion|nucleus					0	Ovarian(93;0.11)	all_hematologic(90;0.0901)				CCATCTTACCTGTCGACGAAT	0.373													G	5216852	T	G	5216852	3	3	84	1	0	0	0	0	1	0	0	0	9121	1594	55	5	355	5	LYRM4	6	5216852	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08		5216852	165898215	452	55995											
BMP6	654	broad.mit.edu	37	chr6	7727352	7727352	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagccccggccgcacggagcAgccgccgccgtcgccgcagt	15	19	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:7727352A>C	uc003mxu.3	+	1	342	c.164A>C	c.(163-165)CAG>CCG	p.Q55P		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	55					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					CGCACGGAGCAGCCGCCGCCG	0.547													C	7727352	A	C	7727352	3	2	84	1	0	0	0	0	1	0	0	0	1464	188	7	5	166	5	BMP6	6	7727352	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2510500	7727352	163387715	453	55996											
BMP6	654	broad.mit.edu	37	chr6	7862547	7862547	+	Frame_Shift_Del	DEL	C	C	-													attaaaggagtccacgtccaCccccgagccgcaggcctggt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:7862546_7862546AC>A	uc003mxu.4	+	3	1197	c.1019_1019AC>A	c.(1018-1020)cacfs	p.H340fs		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	340					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GTCCACGTCCACCCCCGAGCC	0.522													-	7862547	C	-	7862547	7	5	84	1	0	1	0	1	0	0	0	0	1464	506	18	0	1034	0	BMP6	6	7862547	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	135195	7862547	163252520	454	55997											
NEDD9	4739	broad.mit.edu	37	chr6	11193914	11193914	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccatggcctgtcctcacGggggttatcacctgtgggag	14	11	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:11193914G>A	uc003mzv.2	-	3	638	c.471C>T	c.(469-471)CCC>CCT	p.P157P	NEDD9_uc010joz.2_Silent_p.P157P|NEDD9_uc003mzw.3_Silent_p.P11P	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	157	Interacts strongly with spindle- regulatory protein D1M1.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CTGTCCTCACGGGGGTTATCA	0.507													A	11193914	G	A	11193914	2	1	84	1	0	0	0	0	0	0	0	1	10313	1103	39	1		1	NEDD9	6	11193914	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	3331367	11193914	159921153	455	55998											
MYLIP	29116	broad.mit.edu	37	chr6	16145267	16145267	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaacatcaaaggaggtgTatgaccatgccaggagggct	13	7	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:16145267T>C	uc003nbq.2	+	6	1204	c.967T>C	c.(967-969)TAT>CAT	p.Y323H	MYLIP_uc003nbr.2_Missense_Mutation_p.Y142H	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting	323					cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			pancreas(1)	1	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			AAAGGAGGTGTATGACCATGC	0.458													C	16145267	T	C	16145267	3	2	84	1	0	0	0	0	1	0	0	0	10055	1638	57	3	989	3	MYLIP	6	16145267	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	4951353	16145267	154969800	456	55999											
KIF13A	63971	broad.mit.edu	37	chr6	17837127	17837128	+	Frame_Shift_Del	DEL	CT	CT	-													acctctgcctgagagagctgCtctctcagtttctcgacttc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:17837127_17837128delCT	uc003ncg.3	-	11	1241_1242	c.1136_1137delAG	c.(1135-1137)GAGfs	p.E379fs	KIF13A_uc003ncf.2_Frame_Shift_Del_p.E379fs|KIF13A_uc003nch.3_Frame_Shift_Del_p.E379fs|KIF13A_uc003nci.3_Frame_Shift_Del_p.E379fs|KIF13A_uc003ncj.2_Frame_Shift_Del_p.E55fs	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	379	Potential.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GAGAGAGCTGCTCTCTCAGTTT	0.525													-	17837128	CT	-	17837127	7	5	84	1	0	1	0	1	0	0	0	0	8274	796	28	0	4421	0	KIF13A	6	17837127	Frame_Shift_Del	DEL	CT	TCGA-BR-8372-01A-11D-2340-08	1691860	17837127	153277940	457	56000											
HFE	3077	broad.mit.edu	37	chr6	26093138	26093138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggaagagcagagatataCgtgccaggtggagcacccag	16	8	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:26093138C>T	uc003nfx.1	+	4	1002	c.842C>T	c.(841-843)ACG>ATG	p.T281M	HFE_uc003nfy.1_Missense_Mutation_p.T258M|HFE_uc010jqe.1_Missense_Mutation_p.T278M|HFE_uc003nfz.1_Missense_Mutation_p.T193M|HFE_uc003ngd.1_Missense_Mutation_p.T179M|HFE_uc003nga.1_Missense_Mutation_p.T267M|HFE_uc003ngb.1_Missense_Mutation_p.T175M|HFE_uc003ngc.1_Missense_Mutation_p.T189M|HFE_uc003nge.1_Missense_Mutation_p.T101M|HFE_uc003ngf.1_Intron	NM_000410	NP_000401	Q30201	HFE_HUMAN	hemochromatosis protein isoform 1 precursor	281	Alpha-3.|Ig-like C1-type.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding				0						CAGAGATATACGTGCCAGGTG	0.552									Hemochromatosis				T	26093138	C	T	26093138	3	4	84	1	0	0	0	0	1	0	0	0	7081	536	19	1	856	1	HFE	6	26093138	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	8256011	26093138	145021929	458	56001											
HIST1H1E	3008	broad.mit.edu	37	chr6	26156700	26156700	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagaaggcccgcaagtctGcaggtgcggccaagcgcaaa	14	11	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:26156700G>T	uc003ngq.2	+	1	142	c.82G>T	c.(82-84)GCA>TCA	p.A28S	HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	histone cluster 1, H1e	28					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			large_intestine(1)|ovary(1)	2						CCGCAAGTCTGCAGGTGCGGC	0.657													T	26156700	G	T	26156700	3	4	84	1	0	0	0	0	1	0	0	0	7126	1319	46	5	84	5	HIST1H1E	6	26156700	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	63562	26156700	144958367	459	56002											
HIST1H2BE	8344	broad.mit.edu	37	chr6	26184252	26184252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttcgagcgcatcgccggcGaggcttcccgcctggcgcat	13	16	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:26184252G>A	uc003ngt.2	+	1	229	c.229G>A	c.(229-231)GAG>AAG	p.E77K		NM_003523	NP_003514	P62807	H2B1C_HUMAN	histone cluster 1, H2be	77					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0						CATCGCCGGCGAGGCTTCCCG	0.612													A	26184252	G	A	26184252	3	1	84	1	0	0	0	0	1	0	0	0	7144	1059	37	1	231	1	HIST1H2BE	6	26184252	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	27552	26184252	144930815	460	56003											
HIST1H4E	8367	broad.mit.edu	37	chr6	26205129	26205129	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagacagtgacagcgatggAtgtggtctacgcgctgaaga	14	8	1	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:26205129A>G	uc003ngy.2	+	1	257	c.257A>G	c.(256-258)GAT>GGT	p.D86G		NM_003545	NP_003536	P62805	H4_HUMAN	histone cluster 1, H4e	86					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1		all_hematologic(11;0.196)				ACAGCGATGGATGTGGTCTAC	0.532													G	26205129	A	G	26205129	3	3	84	1	0	0	0	0	1	0	0	0	7169	333	12	3	259	3	HIST1H4E	6	26205129	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	20877	26205129	144909938	461	56004											
ABT1	29777	broad.mit.edu	37	chr6	26598802	26598802	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgctccaacaaagggctcCtggccaggatctttggagcc	11	15	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:26598802C>A	uc003nii.2	+	3	779	c.748C>A	c.(748-750)CTG>ATG	p.L250M		NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	250					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			ovary(1)	1						CAAAGGGCTCCTGGCCAGGAT	0.652													A	26598802	C	A	26598802	3	1	84	1	0	0	0	0	1	0	0	0	101	680	24	5	758	5	ABT1	6	26598802	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	393673	26598802	144516265	462	56005											
HIST1H2BJ	8970	broad.mit.edu	37	chr6	27100151	27100151	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaaccaactcactgtttActtagcgctggtgtacttgg	9	10	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:27100151A>G	uc003niv.2	-	1	425	c.379T>C	c.(379-381)TAA>CAA	p.*127Q	HIST1H2BJ_uc003niu.1_Intron|HIST1H2AG_uc003niw.2_5'Flank	NM_021058	NP_066402	P06899	H2B1J_HUMAN	histone cluster 1, H2bj	127					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding				0						CTCACTGTTTACTTAGCGCTG	0.557													G	27100151	A	G	27100151	4	3	84	1	0	0	0	0	0	0	0	0	7149	404	14	3	5	3	HIST1H2BJ	6	27100151	Nonstop_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	501349	27100151	144014916	463	56006											
PGBD1	84547	broad.mit.edu	37	chr6	28254890	28254890	+	Frame_Shift_Del	DEL	A	A	-													cggatcagctcatctccaggAaaaaaaccccagagacaagg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:28254890delA	uc003nky.2	+	4	957	c.587delA	c.(586-588)GAAfs	p.E196fs	PGBD1_uc003nkz.2_Frame_Shift_Del_p.E196fs	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	196					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						CATCTCCAGGAAAAAAACCCC	0.502													-	28254890	A	-	28254890	7	5	84	1	0	1	0	1	0	0	0	0	11780	246	9	0	597	0	PGBD1	6	28254890	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	1154739	28254890	142860177	464	56007											
SCAND3	114821	broad.mit.edu	37	chr6	28541255	28541255	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaacacctgctttggttggCttttcaattcactactcttt	6	10	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:28541255C>A	uc003nlo.2	-	4	3029	c.2411G>T	c.(2410-2412)AGC>ATC	p.S804I		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	804					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						ctttggttggcttttcaattc	0													A	28541255	C	A	28541255	3	1	84	1	0	0	0	0	1	0	0	0	13876	797	28	5	1570	5	SCAND3	6	28541255	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	286365	28541255	142573812	465	56008											
OR11A1	26531	broad.mit.edu	37	chr6	29394884	29394884	+	Frame_Shift_Del	DEL	A	A	-													gaaaagcataaagtcacagtAaaactggtcaatgtggttgg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:29394884delA	uc003nmg.2	-	1	626	c.535delT	c.(535-537)TACfs	p.Y179fs		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A,	179	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AAGTCACAGTAAAACTGGTCA	0.532													-	29394884	A	-	29394884	7	5	84	1	0	1	0	1	0	0	0	0	10924	362	13	0	416	0	OR11A1	6	29394884	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	853629	29394884	141720183	466	56009											
MAS1L	116511	broad.mit.edu	37	chr6	29454570	29454570	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacatcgaccctgtgctcCctgggaagaaggttctccac	9	15	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:29454570C>T	uc011dlq.1	-	1	1110	c.1110G>A	c.(1108-1110)AGG>AGA	p.R370R		NM_052967	NP_443199	P35410	MAS1L_HUMAN	MAS1 oncogene-like	370	Cytoplasmic (Potential).					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			ovary(7)|lung(2)	9						CCCTGTGCTCCCTGGGAAGAA	0.507													T	29454570	C	T	29454570	2	4	84	1	0	0	0	0	0	0	0	1	9321	622	22	4		4	MAS1L	6	29454570	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	59686	29454570	141660497	467	56010											
HLA-A	3105	broad.mit.edu	37	chr6	29911900	29911900	+	Splice_Site	DEL	C	C	-													ttctgactcttcccgtcagaCccccccaagacacatatgac					rs75368153		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:29911899_29911899AC>A	uc003nol.3	+	4	704	c.620_splice	c.e4-1	p.D207_splice	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_5'Flank|HLA-A_uc021ytz.1_Splice_Site_p.D207_splice|HLA-A_uc010jrq.3_Splice_Site_p.D86_splice|HLA-A_uc003nok.3_Splice_Site_p.D86_splice|HLA-A_uc010klp.2_Splice_Site_p.D179_splice|HLA-A_uc011dmc.2_Splice_Site_p.D86_splice|HLA-A_uc011dmd.2_Splice_Site_p.D86_splice|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	207	Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TTCCCGTCAGACCCCCCCAAG	0.577									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			-	29911900	C	-	29911900	8	5	84	1	0	1	0	1	0	0	1	0	7195	521	18	0	635	0	HLA-A	6	29911900	Splice_Site	DEL	C	TCGA-BR-8372-01A-11D-2340-08	457330	29911900	141203167	468	56011											
TRIM10	10107	broad.mit.edu	37	chr6	30121844	30121844	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtgtagatgggctctcGggtgacagcgttggtgaagg	19	5	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:30121844G>A	uc003npo.3	-	7	1424	c.1348C>T	c.(1348-1350)CGA>TGA	p.R450*	TRIM10_uc003npn.2_Intron	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	tripartite motif-containing 10 isoform 1	450	B30.2/SPRY.					cytoplasm	zinc ion binding				0						ATGGGCTCTCGGGTGACAGCG	0.602													A	30121844	G	A	30121844	4	1	84	1	0	0	0	0	0	1	0	0	16483	1124	39	1	189	1	TRIM10	6	30121844	Nonsense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	209944	30121844	140993223	469	56012											
PPP1R10	5514	broad.mit.edu	37	chr6	30575625	30575625	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaccctaccttcatccTcacttgacttgctcagctgc	7	16	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:30575625T>C	uc003nqn.1	-	6	926	c.374A>G	c.(373-375)GAG>GGG	p.E125G	PPP1R10_uc010jsc.1_5'UTR	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	125	Interaction with TOX4 (By similarity).|TFIIS N-terminal.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						ACCTTCATCCTCACTTGACTT	0.438													C	30575625	T	C	30575625	3	2	84	1	0	0	0	0	1	0	0	0	12352	1551	54	3	2508	3	PPP1R10	6	30575625	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	453781	30575625	140539442	470	56013											
HLA-C	3107	broad.mit.edu	37	chr6	31238246	31238247	+	Frame_Shift_Del	DEL	GT	GT	-													gagagggggtggtgggtcacGtgtgtctttgggggttctga					rs1131292		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:31238246_31238247delGT	uc003nsy.2	-	4	642_643	c.635_636delAC	c.(634-636)CACfs	p.H212fs	HLA-C_uc011dnj.1_Frame_Shift_Del_p.H184fs|HLA-C_uc003nsx.2_Frame_Shift_Del_p.H91fs|HLA-C_uc003nsz.2_Frame_Shift_Del_p.H212fs|HLA-C_uc010jsl.2_Frame_Shift_Del_p.H212fs|HLA-C_uc003nta.2_Frame_Shift_Del_p.H212fs|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_Frame_Shift_Del_p.H91fs	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	212	Extracellular (Potential).|Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex					0						GGTGGGTCACGTGTGTCTTTGG	0.594													-	31238247	GT	-	31238246	7	5	84	1	0	1	0	1	0	0	0	0	7197	1136	40	0	484	0	HLA-C	6	31238246	Frame_Shift_Del	DEL	GT	TCGA-BR-8372-01A-11D-2340-08	662621	31238246	139876821	471	56014											
LST1	7940	broad.mit.edu	37	chr6	31556429	31556429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagagctgactatgcctgCattgctgagaacaaacccac	8	13	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:31556429C>T	uc003num.2	+	5	491	c.269C>T	c.(268-270)GCA>GTA	p.A90V	LST1_uc003nun.2_Silent_p.C44C|LST1_uc003nuo.2_Missense_Mutation_p.A35V|LST1_uc003nup.2_Silent_p.C32C|LST1_uc010jss.1_RNA|LST1_uc003nuq.2_Missense_Mutation_p.A45V|LST1_uc010jst.1_RNA|LST1_uc010jsu.1_RNA|LST1_uc003nus.2_RNA|LST1_uc010jsx.2_RNA|LST1_uc003nuu.2_RNA|LST1_uc003nut.2_RNA|LST1_uc010jsw.2_Missense_Mutation_p.A81V	NM_007161	NP_009092	O00453	LST1_HUMAN	leukocyte specific transcript 1 isoform 1	Error:Variant_position_missing_in_O00453_after_alignment					cell morphogenesis|dendrite development|immune response|negative regulation of lymphocyte proliferation|regulation of cell shape	Golgi membrane|integral to membrane	protein binding				0						ACTATGCCTGCATTGCTGAGA	0.597													T	31556429	C	T	31556429	3	4	84	1	0	0	0	0	1	0	0	0	9067	718	25	2	305	2	LST1	6	31556429	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	318183	31556429	139558638	472	56015											
C6orf10	10665	broad.mit.edu	37	chr6	32261427	32261427	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttttgggacacctgactcActcttctttacttgggactc	7	13	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:32261427A>G	uc011dpy.1	-	12	1196	c.1023T>C	c.(1021-1023)AGT>AGC	p.S341S	C6orf10_uc011dpx.1_Silent_p.S123S	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	341						integral to membrane				skin(1)	1						CACCTGACTCACTCTTCTTTA	0.463													G	32261427	A	G	32261427	2	3	84	1	0	0	0	0	0	0	0	1	2317	156	6	3		3	C6orf10	6	32261427	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	704998	32261427	138853640	473	56016											
HLA-DQA2	3118	broad.mit.edu	37	chr6	32709238	32709239	+	In_Frame_Ins	INS	-	-	CTG													agatgatcctaaacaaagctINSctgctgctgggggccctcgc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:32709238_32709239insCTG	uc003obx.2	+	1	76_77	c.18_19insCTG	c.(16-21)insCTG	p.9_10insL		NM_020056	NP_064440	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ	9_10					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAAACAAAGCTCTGCTGCTGGG	0.535													CTG	32709239	-	CTG	32709238	7	5	84	1	0	1	1	0	0	0	0	0	7205	1538	54	0	20	0	HLA-DQA2	6	32709238	In_Frame_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	447811	32709238	138405829	474	56017	239	2									
HLA-DQA2	3118	broad.mit.edu	37	chr6	32709239	32709240	+	In_Frame_Ins	INS	-	-	CTG													gatgatcctaaacaaagctcINStgctgctgggggccctcgcc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:32709238_32709239T>TCTG	uc003obx.3	+	0	76_77	c.18_19T>TCTG	c.(16-21)gctctg>gcTCTGtg	p.6_7AL>AL		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	6					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAAACAAAGCTCTGCTGCTGGG	0.535													CTG	32709240	-	CTG	32709239	7	5	84	1	0	1	1	0	0	0	0	0	7205	912	32	0	21	0	HLA-DQA2	6	32709239	In_Frame_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	1	32709239	138405828	475	56018	239	2									
TAP2	6891	broad.mit.edu	37	chr6	32798079	32798079	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgttcatactgtgagaTgggcttttcatccagcagca	11	9	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:32798079T>C	uc003occ.2	-	8	1631	c.1600A>G	c.(1600-1602)ATC>GTC	p.I534V	TAP2_uc011dqf.1_Missense_Mutation_p.I534V|TAP2_uc003ocb.1_Missense_Mutation_p.I534V|TAP2_uc003ocd.2_Missense_Mutation_p.I534V	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	534	ABC transporter.|Cytoplasmic (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						TACTGTGAGATGGGCTTTTCA	0.587													C	32798079	T	C	32798079	3	2	84	1	0	0	0	0	1	0	0	0	15548	1464	51	3	561	3	TAP2	6	32798079	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	88840	32798079	138316988	476	56019											
BAK1	578	broad.mit.edu	37	chr6	33543097	33543097	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcaatcttggtgaagtActcataggcattctctgccg	12	9	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:33543097A>G	uc003oes.2	-	4	628	c.328T>C	c.(328-330)TAC>CAC	p.Y110H	BAK1_uc003oer.2_Missense_Mutation_p.Y40H|BAK1_uc003oet.2_RNA|BAK1_uc010jvb.2_Missense_Mutation_p.Y110H|BAK1_uc003oeu.2_Missense_Mutation_p.Y51H|BAK1_uc011drj.1_Missense_Mutation_p.Y110H	NM_001188	NP_001179	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	110					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			ovary(1)	1						TTGGTGAAGTACTCATAGGCA	0.567													G	33543097	A	G	33543097	3	3	84	1	0	0	0	0	1	0	0	0	1305	391	14	3	319	3	BAK1	6	33543097	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	745018	33543097	137571970	477	56020											
ITPR3	3710	broad.mit.edu	37	chr6	33636774	33636774	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcggcccgtgaaggagatggCccaatcccacgagtacctga	12	13	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:33636774C>G	uc011drk.1	+	18	2249	c.2030C>G	c.(2029-2031)GCC>GGC	p.A677G		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	677	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						AAGGAGATGGCCCAATCCCAC	0.592													G	33636774	C	G	33636774	3	3	84	1	0	0	0	0	1	0	0	0	7922	739	26	5	2100	5	ITPR3	6	33636774	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	93677	33636774	137478293	478	56021											
SPDEF	25803	broad.mit.edu	37	chr6	34512185	34512185	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	accgtgtcggggggcagcagGaggtggctgggggatacgct	21	8	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:34512185G>C	uc003ojq.1	-	2	463	c.48C>G	c.(46-48)CTC>CTG	p.L16L	SPDEF_uc011dsq.1_Silent_p.L16L	NM_012391	NP_036523	O95238	SPDEF_HUMAN	SAM pointed domain containing ets transcription	16					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(3)|ovary(1)|central_nervous_system(1)	5						GGGGCAGCAGGAGGTGGCTGG	0.677													C	34512185	G	C	34512185	2	2	84	1	0	0	0	0	0	0	0	1	15025	1161	41	5		5	SPDEF	6	34512185	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	875411	34512185	136602882	479	56022											
C6orf106	64771	broad.mit.edu	37	chr6	34574621	34574621	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actccgtttcaaaagatgacAgctgctgcgttactcctaaa	7	11	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:34574621A>G	uc003ojr.2	-	4	817	c.572T>C	c.(571-573)CTG>CCG	p.L191P	C6orf106_uc003ojs.2_Missense_Mutation_p.L125P	NM_024294	NP_077270	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106 isoform a	191										skin(2)|ovary(1)	3						AAAAGATGACAGCTGCTGCGT	0.458													G	34574621	A	G	34574621	3	3	84	1	0	0	0	0	1	0	0	0	2319	188	7	3	332	3	C6orf106	6	34574621	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	62436	34574621	136540446	480	56023											
CLPS	1208	broad.mit.edu	37	chr6	35762936	35762936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtctcactgcttggagCgtccagcgtcatggcagatg	14	11	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:35762936C>T	uc003ole.1	-	3	363	c.326G>A	c.(325-327)CGC>CAC	p.R109H	CLPS_uc003olf.1_Missense_Mutation_p.R68H	NM_001832	NP_001823	P04118	COL_HUMAN	colipase preproprotein	109					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region					0						CTGCTTGGAGCGTCCAGCGTC	0.607													T	35762936	C	T	35762936	3	4	84	1	0	0	0	0	1	0	0	0	3553	768	27	1	16	1	CLPS	6	35762936	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1188315	35762936	135352131	481	56024											
CPNE5	57699	broad.mit.edu	37	chr6	36767803	36767803	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccacaatgaacttgcgcacGaagtcaggattgagcgtgtt	11	9	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:36767803G>A	uc003omr.1	-	4	295	c.228C>T	c.(226-228)TTC>TTT	p.F76F	CPNE5_uc003oms.1_Silent_p.F38F	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	copine V	76	C2 1.									skin(1)	1						ACTTGCGCACGAAGTCAGGAT	0.552													A	36767803	G	A	36767803	2	1	84	1	0	0	0	0	0	0	0	1	3815	1049	37	1		1	CPNE5	6	36767803	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1004867	36767803	134347264	482	56025											
C6orf89	221477	broad.mit.edu	37	chr6	36867371	36867372	+	Frame_Shift_Ins	INS	-	-	C													aaagaatgaacctcagagacINScccccccgcagtatcctctc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:36867370_36867371A>AC	uc003omw.3	+	1	334_335	c.171_172A>AC	c.(169-174)agacccfs	p.R57fs	C6orf89_uc003omv.3_5'UTR|C6orf89_uc003omx.3_Frame_Shift_Ins_p.R50fs|C6orf89_uc011dtr.2_5'UTR	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	50						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						AACCTCAGAGACCCCCCCCGCA	0.431													C	36867372	-	C	36867371	7	5	84	1	0	1	1	0	0	0	0	0	2373	507	18	0	178	0	C6orf89	6	36867371	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	99568	36867371	134247696	483	56026											
KCNK5	8645	broad.mit.edu	37	chr6	39161960	39161960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccggccacaaagtcacCgaagccgatggtggagatgg	13	12	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:39161960C>T	uc003oon.2	-	4	983	c.619G>A	c.(619-621)GGT>AGT	p.G207S		NM_003740	NP_003731	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	207					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						ACAAAGTCACCGAAGCCGATG	0.552													T	39161960	C	T	39161960	3	4	84	1	0	0	0	0	1	0	0	0	8069	652	23	1	888	1	KCNK5	6	39161960	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2294589	39161960	131953107	484	56027											
PTCRA	171558	broad.mit.edu	37	chr6	42890866	42890866	+	Frame_Shift_Del	DEL	C	C	-													gcctggtccttgatgttgcaCcccctggccttgacagcccc					rs146960695		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:42890866delC	uc003osx.2	+	2	241	c.160delC	c.(160-162)CCCfs	p.P54fs	PTCRA_uc011duz.1_Frame_Shift_Del_p.H64fs|PTCRA_uc010jxx.1_Intron|PTCRA_uc010jxy.2_Intron|PTCRA_uc010jxz.2_Intron	NM_138296	NP_612153	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha precursor	54	Extracellular (Potential).					integral to membrane	receptor activity	p.P54T(1)		ovary(2)	2	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGATGTTGCACCCCCTGGCCT	0.607													-	42890866	C	-	42890866	7	5	84	1	0	1	0	1	0	0	0	0	12735	507	18	0	166	0	PTCRA	6	42890866	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	3728906	42890866	128224201	485	56028											
PPP2R5D	5528	broad.mit.edu	37	chr6	42975937	42975937	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagccatttttcttccctcAggttcatctacgagacggag	9	11	4	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:42975937A>G	uc003oth.2	+	8	944	c.858_splice	c.e8-2	p.R286_splice	MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Splice_Site_p.R254_splice|PPP2R5D_uc010jyd.2_Splice_Site_p.R180_splice|PPP2R5D_uc011dva.1_Splice_Site_p.R135_splice|PPP2R5D_uc003oti.2_Splice_Site_p.R135_splice|PPP2R5D_uc003otj.2_Splice_Site_p.R135_splice	NM_006245	NP_006236	Q14738	2A5D_HUMAN	delta isoform of regulatory subunit B56, protein						nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(1)|central_nervous_system(1)	2			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TTCTTCCCTCAGGTTCATCTA	0.577													G	42975937	A	G	42975937	5	3	84	1	0	0	0	0	0	0	1	0	12395	202	7	3	886	3	PPP2R5D	6	42975937	Splice_Site	SNP	A	TCGA-BR-8372-01A-11D-2340-08	85071	42975937	128139130	486	56029											
MRPL2	51069	broad.mit.edu	37	chr6	43023644	43023644	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccccatacctgcagctcGgatatattgggcaccccggc	9	15	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:43023644G>A	uc003ots.1	-	5	745	c.622C>T	c.(622-624)CGA>TGA	p.R208*	CUL7_uc011dvb.1_5'Flank|CUL7_uc003otq.2_5'Flank|CUL7_uc010jyh.2_5'Flank|KLC4_uc003otr.1_Intron|MRPL2_uc011dvc.1_3'UTR	NM_015950	NP_057034	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2 precursor	208					translation	mitochondrion|ribosome	structural constituent of ribosome				0		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		CCTGCAGCTCGGATATATTGG	0.562													A	43023644	G	A	43023644	4	1	84	1	0	0	0	0	0	1	0	0	9785	1124	39	1	307	1	MRPL2	6	43023644	Nonsense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	47707	43023644	128091423	487	56030											
PTK7	5754	broad.mit.edu	37	chr6	43098273	43098273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagctttgccagggtggtgcTggcaccccaggacgtggtag	16	10	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:43098273T>C	uc003oub.1	+	5	884	c.686T>C	c.(685-687)CTG>CCG	p.L229P	PTK7_uc003ouc.1_Missense_Mutation_p.L229P|PTK7_uc003oud.1_Missense_Mutation_p.L229P|PTK7_uc003oue.1_Missense_Mutation_p.L229P|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Missense_Mutation_p.L237P|PTK7_uc010jyj.1_5'Flank|PTK7_uc003oua.2_Missense_Mutation_p.L229P	NM_002821	NP_002812	Q13308	PTK7_HUMAN	PTK7 protein tyrosine kinase 7 isoform a	229	Ig-like C2-type 3.|Extracellular (Potential).				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(2)|large_intestine(1)	3			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGGGTGGTGCTGGCACCCCAG	0.617													C	43098273	T	C	43098273	3	2	84	1	0	0	0	0	1	0	0	0	12765	1580	55	3	704	3	PTK7	6	43098273	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	74629	43098273	128016794	488	56031											
ZNF318	24149	broad.mit.edu	37	chr6	43325442	43325442	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcctgggaaatatatcGctcaagaccccgagagcact	8	13	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:43325442G>A	uc003oux.2	-	3	688	c.610C>T	c.(610-612)CGA>TGA	p.R204*	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	204					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GAAATATATCGCTCAAGACCC	0.468													A	43325442	G	A	43325442	4	1	84	1	0	0	0	0	0	1	0	0	17833	1095	38	1	6261	1	ZNF318	6	43325442	Nonsense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	227169	43325442	127789625	489	56032											
C6orf154	221424	broad.mit.edu	37	chr6	43475025	43475025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctagtcctgacgtcattAgcaccatctgagagctggga	10	13	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:43475025A>G	uc003ovk.1	-	6	1803	c.902T>C	c.(901-903)CTA>CCA	p.L301P	C6orf154_uc003ovj.1_Missense_Mutation_p.L110P	NM_001012974	NP_001012992	Q5JTD7	CF154_HUMAN	hypothetical protein LOC221424	301											0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TGACGTCATTAGCACCATCTG	0.537											OREG0017453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	43475025	A	G	43475025	3	3	84	1	0	0	0	0	1	0	0	0	2339	420	15	3	52	3	C6orf154	6	43475025	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	149583	43475025	127640042	490	56033											
SUPT3H	8464	broad.mit.edu	37	chr6	44988338	44988338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgattacccttgctcccCgcagctgagaaacttcagca	9	13	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:44988338C>T	uc003oxo.2	-	6	569	c.251G>A	c.(250-252)CGG>CAG	p.R84Q	SUPT3H_uc003oxn.1_Missense_Mutation_p.R73Q|SUPT3H_uc011dvv.1_5'UTR|SUPT3H_uc003oxp.2_Missense_Mutation_p.R73Q|SUPT3H_uc011dvw.1_5'UTR	NM_181356	NP_852001	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog isoform 2	155					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			ovary(2)|breast(1)	3						CCTTGCTCCCCGCAGCTGAGA	0.318													T	44988338	C	T	44988338	3	4	84	1	0	0	0	0	1	0	0	0	15394	652	23	1	767	1	SUPT3H	6	44988338	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1513313	44988338	126126729	491	56034											
GPR111	222611	broad.mit.edu	37	chr6	47647856	47647856	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacaatataaaaataagtgTatatactggaaagtctgaga	8	3	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:47647856T>C	uc010jzj.1	+	5	522	c.521T>C	c.(520-522)GTA>GCA	p.V174A	GPR111_uc010jzk.1_Missense_Mutation_p.V106A|GPR111_uc003oyy.2_RNA	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	G-protein coupled receptor 111	174	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						AAAATAAGTGTATATACTGGA	0.313													C	47647856	T	C	47647856	3	2	84	1	0	0	0	0	1	0	0	0	6628	1638	57	3	331	3	GPR111	6	47647856	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	2659518	47647856	123467211	492	56035											
MUT	4594	broad.mit.edu	37	chr6	49407996	49407996	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacttttgctcctctgtcatGgccatcttgtcccatttttg	6	12	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:49407996G>T	uc003ozg.3	-	11	2134	c.1879C>A	c.(1879-1881)CAT>AAT	p.H627N		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	627	B12-binding.	Cobalt (cobalamin axial ligand) (By similarity).	H -> R (in MMAM; mut0).		fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTCTGTCATGGCCATCTTGT	0.408													T	49407996	G	T	49407996	3	4	84	1	0	0	0	0	1	0	0	0	9991	1348	47	5	385	5	MUT	6	49407996	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1760140	49407996	121707071	493	56036											
RHAG	6005	broad.mit.edu	37	chr6	49586892	49586892	+	Frame_Shift_Del	DEL	T	T	-													cccacagtaaggatgctcacTttttgattccaatgttaaat							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:49586892delT	uc003ozk.3	-	2	403	c.341delA	c.(340-342)AACfs	p.N114fs	RHAG_uc010jzl.2_Frame_Shift_Del_p.N114fs|RHAG_uc010jzm.2_Frame_Shift_Del_p.N114fs	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	114	Helical; (Potential).				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|skin(1)	2	Lung NSC(77;0.0255)					GGATGCTCACTTTTTGATTCC	0.264													-	49586892	T	-	49586892	7	5	84	1	0	1	0	1	0	0	0	0	13315	1623	56	0	924	0	RHAG	6	49586892	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	178896	49586892	121528175	494	56037											
DEFB113	245927	broad.mit.edu	37	chr6	49936565	49936566	+	Frame_Shift_Ins	INS	-	-	T													tctctctgcaacttctcttgINStttttttctgtggaactagg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:49936565_49936566insT	uc011dwq.1	-	2	73_74	c.73_74insA	c.(73-75)ACAfs	p.T25fs		NM_001037729	NP_001032818	Q30KQ7	DB113_HUMAN	beta-defensin 113 precursor	25					defense response to bacterium	extracellular region					0	Lung NSC(77;0.042)					AACTTCTCTTGTTTTTTTCTGT	0.351													T	49936566	-	T	49936565	7	5	84	1	0	1	1	0	0	0	0	0	4402	1377	48	0	170	0	DEFB113	6	49936565	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	349673	49936565	121178502	495	56038	240	2									
DEFB113	245927	broad.mit.edu	37	chr6	49936566	49936567	+	Frame_Shift_Ins	INS	-	-	T													ctctctgcaacttctcttgtINSttttttctgtggaactagga							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:49936565_49936566G>GT	uc011dwq.2	-	1	73_74	c.73_74C>AC	c.(73-75)acafs	p.T25fs		NM_001037729	NP_001032818	Q30KQ7	DB113_HUMAN	Homo sapiens defensin, beta 113 (DEFB113), mRNA.	25					defense response to bacterium	extracellular region				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					AACTTCTCTTGTTTTTTTCTGT	0.351													T	49936567	-	T	49936566	7	5	84	1	0	1	1	0	0	0	0	0	4402	1725	60	0	171	0	DEFB113	6	49936566	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	1	49936566	121178501	496	56039	240	2									
TRAM2	9697	broad.mit.edu	37	chr6	52370497	52370497	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcacggcaagggtgaggaTgaagaggcgggtaaccccaa	16	9	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:52370497T>C	uc003paq.2	-	9	924	c.775A>G	c.(775-777)ATC>GTC	p.I259V	EFHC1_uc011dwv.1_Intron|TRAM2_uc003par.1_RNA	NM_012288	NP_036420	Q15035	TRAM2_HUMAN	translocation-associated membrane protein 2	259	TLC.|Helical; (Potential).				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding				0	Lung NSC(77;0.109)					AGGGTGAGGATGAAGAGGCGG	0.527													C	52370497	T	C	52370497	3	2	84	1	0	0	0	0	1	0	0	0	16450	1464	51	3	349	3	TRAM2	6	52370497	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	2433931	52370497	118744570	497	56040											
DST	667	broad.mit.edu	37	chr6	56394279	56394279	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcttccatagcccctcAgtgctgtaatcctggactga	9	13	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:56394279A>T	uc003pdf.2	-	60	11233	c.11205T>A	c.(11203-11205)ACT>ACA	p.T3735T	DST_uc003pcz.3_Silent_p.T3557T|DST_uc011dxj.1_Silent_p.T3586T|DST_uc011dxk.1_Silent_p.T3597T|DST_uc003pcy.3_Silent_p.T3231T	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5643					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)			ATAGCCCCTCAGTGCTGTAAT	0.353													T	56394279	A	T	56394279	2	4	84	1	0	0	0	0	0	0	0	1	4783	175	7	5		5	DST	6	56394279	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	4023782	56394279	114720788	498	56041											
DST	667	broad.mit.edu	37	chr6	56401586	56401587	+	Frame_Shift_Del	DEL	GA	GA	-													gagaaaattaccttcttattGagagtcttccaccgtgcatt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:56401585_56401586TGA>T	uc003pcy.4	-	42	9000_9001	c.8892_8893TCA>A	c.(8890-8895)ctcaatfs	p.L2964fs		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	5376					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	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity	p.N5379D(1)|p.N2965D(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCTTCTTATTGAGAGTCTTCC	0.431													-	56401587	GA	-	56401586	7	5	84	1	0	1	0	1	0	0	0	0	4783	1277	45	0	6791	0	DST	6	56401586	Frame_Shift_Del	DEL	GA	TCGA-BR-8372-01A-11D-2340-08	7307	56401586	114713481	499	56042											
KIAA1586	57691	broad.mit.edu	37	chr6	56918192	56918192	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaacatattgcaaaagaaAtgaagatgaagatatttaag	8	3	0	6			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:56918192A>G	uc003pdj.2	+	4	1065	c.895A>G	c.(895-897)ATG>GTG	p.M299V	KIAA1586_uc011dxm.1_Missense_Mutation_p.M272V	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	hypothetical protein LOC57691	299							nucleic acid binding				0	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGCAAAAGAAATGAAGATGAA	0.323													G	56918192	A	G	56918192	3	3	84	1	0	0	0	0	1	0	0	0	8245	101	4	3	909	3	KIAA1586	6	56918192	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	516606	56918192	114196875	500	56043											
LMBRD1	55788	broad.mit.edu	37	chr6	70428896	70428896	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctacttcttcaatgtcttcAgtgttttccaaacgttcata	4	10	6	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:70428896A>G	uc003pfa.2	-	8	829	c.714T>C	c.(712-714)ACT>ACC	p.T238T	LMBRD1_uc003pey.2_Silent_p.T34T|LMBRD1_uc003pez.2_Silent_p.T165T|LMBRD1_uc010kal.2_Silent_p.T165T|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	238	Cytoplasmic (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1						CAATGTCTTCAGTGTTTTCCA	0.348													G	70428896	A	G	70428896	2	3	84	1	0	0	0	0	0	0	0	1	8842	175	7	3		3	LMBRD1	6	70428896	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	13510704	70428896	100686171	501	56044											
RIMS1	22999	broad.mit.edu	37	chr6	72892051	72892051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagagcgagcggaaacgcGtgccaaagacctcagcgcag	14	11	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:72892051G>A	uc003pga.2	+	6	954	c.877G>A	c.(877-879)GTG>ATG	p.V293M	RIMS1_uc011dyb.1_Translation_Start_Site|RIMS1_uc003pgc.2_Translation_Start_Site|RIMS1_uc003pgb.3_Translation_Start_Site	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	293					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCGGAAACGCGTGCCAAAGAC	0.562													A	72892051	G	A	72892051	3	1	84	1	0	0	0	0	1	0	0	0	13367	1145	40	1	899	1	RIMS1	6	72892051	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	2463155	72892051	98223016	502	56045											
HTR1B	3351	broad.mit.edu	37	chr6	78172894	78172894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgtgcagtttccgggtcCggtacactgtggcaatcaca	14	10	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:78172894C>T	uc003pil.1	-	1	227	c.227G>A	c.(226-228)CGG>CAG	p.R76Q		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	76	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	TTTCCGGGTCCGGTACACTGT	0.567													T	78172894	C	T	78172894	3	4	84	1	0	0	0	0	1	0	0	0	7437	652	23	1	949	1	HTR1B	6	78172894	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	5280843	78172894	92942173	503	56046											
PHIP	55023	broad.mit.edu	37	chr6	79726328	79726328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtttaaattgccaaatacGtgctgtcccatcacgactgc	7	12	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:79726328G>A	uc003pir.2	-	13	1394	c.1168C>T	c.(1168-1170)CGT>TGT	p.R390C	PHIP_uc011dyp.1_Missense_Mutation_p.R390C	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	390	WD 5.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TGCCAAATACGTGCTGTCCCA	0.393													A	79726328	G	A	79726328	3	1	84	1	0	0	0	0	1	0	0	0	11842	1145	40	1	4409	1	PHIP	6	79726328	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1553434	79726328	91388739	504	56047											
TBX18	9096	broad.mit.edu	37	chr6	85446984	85446984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacaggcagaatagtcagCaggggccagactacacagct	13	11	1	2	rs145891330	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:85446984C>T	uc003pkl.1	-	8	1243	c.1243G>A	c.(1243-1245)GCT>ACT	p.A415T	TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	415					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GAATAGTCAGCAGGGGCCAGA	0.592													T	85446984	C	T	85446984	3	4	84	1	0	0	0	0	1	0	0	0	15650	710	25	2	584	2	TBX18	6	85446984	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	5720656	85446984	85668083	505	56048											
CGA	1081	broad.mit.edu	37	chr6	87797872	87797872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagaacatgcagaaacaccGacaatgtgaccagaaagata	10	8	0	5			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:87797872G>A	uc003plj.1	-	2	148	c.47C>T	c.(46-48)TCG>TTG	p.S16L		NM_000735	NP_000726	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	16					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			ovary(1)	1		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		CAGAAACACCGACAATGTGAC	0.403													A	87797872	G	A	87797872	3	1	84	1	0	0	0	0	1	0	0	0	3295	1059	37	1	315	1	CGA	6	87797872	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	2350888	87797872	83317195	506	56049											
ZNF292	23036	broad.mit.edu	37	chr6	87967380	87967380	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacctgaaaaagttaaaAaagaccgtgggcggggccca	12	10	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:87967380A>T	uc003plm.3	+	8	4074	c.4033A>T	c.(4033-4035)AAA>TAA	p.K1345*		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAAAGTTAAAAAAGACCGTGG	0.433													T	87967380	A	T	87967380	4	4	84	1	0	0	0	0	0	1	0	0	17823	15	1	5	4063	5	ZNF292	6	87967380	Nonsense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	169508	87967380	83147687	507	56050											
C6orf165	154313	broad.mit.edu	37	chr6	88144681	88144681	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatcctgaacattatattgaCatagttagagaaaaggccaa	7	6	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:88144681C>A	uc003plv.2	+	11	1496	c.1404C>A	c.(1402-1404)GAC>GAA	p.D468E	SLC35A1_uc003plx.2_5'Flank|C6orf165_uc003plw.2_Missense_Mutation_p.D280E|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.D468E	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	468										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		ATTATATTGACATAGTTAGAG	0.289													A	88144681	C	A	88144681	3	1	84	1	0	0	0	0	1	0	0	0	2341	477	17	5	1442	5	C6orf165	6	88144681	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	177301	88144681	82970386	508	56051											
SFRS18	25957	broad.mit.edu	37	chr6	99848834	99848834	+	Frame_Shift_Del	DEL	T	T	-													ctatacttcgactcctctccTttttcctctcttgttcttta							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:99848834delT	uc003ppo.3	-	12	2228	c.2000delA	c.(1999-2001)AAGfs	p.K667fs	SFRS18_uc003ppl.2_Frame_Shift_Del_p.K213fs|SFRS18_uc003ppp.3_Frame_Shift_Del_p.K667fs|SFRS18_uc011eag.1_Frame_Shift_Del_p.K667fs	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	667						nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		actcctctcctttttcctctc	0.169													-	99848834	T	-	99848834	7	5	84	1	0	1	0	1	0	0	0	0	14174	1609	56	0	421	0	SFRS18	6	99848834	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	11704153	99848834	71266233	509	56052											
SFRS18	25957	broad.mit.edu	37	chr6	99856034	99856034	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttttttcttttttggacaAttgtgaacgttgttgttcca	7	6	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:99856034A>T	uc003ppo.3	-	7	1015	c.787T>A	c.(787-789)TTG>ATG	p.L263M	SFRS18_uc003ppp.3_Missense_Mutation_p.L263M|SFRS18_uc011eag.1_Missense_Mutation_p.L263M|SFRS18_uc003ppr.2_Missense_Mutation_p.L263M	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	263	Potential.					nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		TTTTTGGACAATTGTGAACGT	0.418													T	99856034	A	T	99856034	3	4	84	1	0	0	0	0	1	0	0	0	14174	98	4	5	1654	5	SFRS18	6	99856034	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	7200	99856034	71259033	510	56053											
GRIK2	2898	broad.mit.edu	37	chr6	102074414	102074414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagattccttctatgtcaGtctctacccagacttctctt	4	13	4	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:102074414G>A	uc003pqp.3	+	3	692	c.443G>A	c.(442-444)AGT>AAT	p.S148N	GRIK2_uc003pqn.2_Missense_Mutation_p.S148N|GRIK2_uc003pqo.3_Missense_Mutation_p.S148N|GRIK2_uc010kcw.2_Missense_Mutation_p.S148N	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	148	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTCTATGTCAGTCTCTACCCA	0.502													A	102074414	G	A	102074414	3	1	84	1	0	0	0	0	1	0	0	0	6774	1029	36	4	453	4	GRIK2	6	102074414	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	2218380	102074414	69040653	511	56054											
C6orf203	51250	broad.mit.edu	37	chr6	107361107	107361107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacttgtatttttctagtaCcaagttacgtgcaccaaatt	5	8	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:107361107C>T	uc003prq.2	+	2	224	c.143C>T	c.(142-144)ACC>ATC	p.T48I	C6orf203_uc011eaj.1_Missense_Mutation_p.T53I|C6orf203_uc010kde.2_Missense_Mutation_p.T48I	NM_016487	NP_057571	Q9P0P8	CF203_HUMAN	hypothetical protein LOC51250 isoform a	48											0	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		TTTTCTAGTACCAAGTTACGT	0.393													T	107361107	C	T	107361107	3	4	84	1	0	0	0	0	1	0	0	0	2352	507	18	4	164	4	C6orf203	6	107361107	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	5286693	107361107	63753960	512	56055											
LACE1	246269	broad.mit.edu	37	chr6	108616409	108616409	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggccaccgcccctgggaaGcccttttggaaaggtcagtg	13	13	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:108616409G>T	uc003psj.2	+	1	312	c.126G>T	c.(124-126)AAG>AAT	p.K42N		NM_145315	NP_660358	Q8WV93	LACE1_HUMAN	lactation elevated 1	42							ATP binding			central_nervous_system(1)	1		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		CCCCTGGGAAGCCCTTTTGGA	0.627													T	108616409	G	T	108616409	3	4	84	1	0	0	0	0	1	0	0	0	8595	962	34	5	128	5	LACE1	6	108616409	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1255302	108616409	62498658	513	56056											
AKD1	221264	broad.mit.edu	37	chr6	109850222	109850222	+	Frame_Shift_Del	DEL	T	T	-													aaaactacttacctccctccTttttttatctctctctaata							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:109850221_109850221CT>C	uc003ptn.2	-	28	3703	c.3626_3626AG>G	c.(3625-3627)aggfs	p.R1209fs	AKD1_uc011eat.1_Frame_Shift_Del_p.R288fs	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1209					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						TACCTCCCTCCTTTTTTTATC	0.378													-	109850222	T	-	109850222	7	5	84	1	0	1	0	1	0	0	0	0	460	1608	56	0	2162	0	AKD1	6	109850222	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	1233813	109850222	61264845	514	56057											
AKD1	221264	broad.mit.edu	37	chr6	109863251	109863251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctatataaattaagataccGtattggttccttaagccacc	5	9	1	1	rs139150987	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:109863251G>A	uc003ptn.2	-	27	3426	c.3349C>T	c.(3349-3351)CGT>TGT	p.R1117C	AKD1_uc011eat.1_Missense_Mutation_p.R196C	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1117					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						TTAAGATACCGTATTGGTTCC	0.289													A	109863251	G	A	109863251	3	1	84	1	0	0	0	0	1	0	0	0	460	1159	40	1	2446	1	AKD1	6	109863251	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	13029	109863251	61251816	515	56058											
SLC22A16	85413	broad.mit.edu	37	chr6	110746270	110746270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacactccactcaggagggCcatagtcccaacaaacaact	6	14	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:110746270C>T	uc003puf.2	-	8	1607	c.1540G>A	c.(1540-1542)GCC>ACC	p.A514T	SLC22A16_uc003pue.2_Missense_Mutation_p.A495T	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	514	Helical; (Potential).				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CTCAGGAGGGCCATAGTCCCA	0.423													T	110746270	C	T	110746270	3	4	84	1	0	0	0	0	1	0	0	0	14447	739	26	2	197	2	SLC22A16	6	110746270	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	883019	110746270	60368797	516	56059											
REV3L	5980	broad.mit.edu	37	chr6	111688943	111688943	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtttcttggaacgttcGtattcttctttggcttgaag	11	7	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:111688943G>A	uc003puy.3	-	14	6371	c.6048C>T	c.(6046-6048)TAC>TAT	p.Y2016Y	REV3L_uc003pux.3_Silent_p.Y1938Y|REV3L_uc003puz.3_Silent_p.Y1938Y|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2016					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGGAACGTTCGTATTCTTCTT	0.423								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	111688943	G	A	111688943	2	1	84	1	0	0	0	0	0	0	0	1	13240	1140	40	1		1	REV3L	6	111688943	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	942673	111688943	59426124	517	56060											
RFX6	222546	broad.mit.edu	37	chr6	117240336	117240336	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaattttgctaaaaattgGgaacagtgggttgtttcatc	10	4	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:117240336G>A	uc003pxm.2	+	11	1122	c.1059G>A	c.(1057-1059)TGG>TGA	p.W353*		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	353					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						CTAAAAATTGGGAACAGTGGG	0.323													A	117240336	G	A	117240336	4	1	84	1	0	0	0	0	0	1	0	0	13267	1241	43	4	1101	4	RFX6	6	117240336	Nonsense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	5551393	117240336	53874731	518	56061											
C6orf170	221322	broad.mit.edu	37	chr6	121625975	121625975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacagaattttaaaatcCggtcctacggaaatgagaca	9	8	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:121625975C>T	uc003pyo.1	-	6	763	c.695G>A	c.(694-696)CGG>CAG	p.R232Q	C6orf170_uc003pyq.1_RNA	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	232					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		TTTTAAAATCCGGTCCTACGG	0.299													T	121625975	C	T	121625975	3	4	84	1	0	0	0	0	1	0	0	0	2344	652	23	1	3186	1	C6orf170	6	121625975	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	4385639	121625975	49489092	519	56062											
BCLAF1	9774	broad.mit.edu	37	chr6	136599301	136599301	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagcatcagagcaagatgAactctgactaggtggtgtag	15	6	2	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:136599301A>G	uc003qgx.1	-	4	971	c.718T>C	c.(718-720)TCA>CCA	p.S240P	BCLAF1_uc003qgw.1_Missense_Mutation_p.S240P|BCLAF1_uc003qgy.1_Missense_Mutation_p.S238P|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.S238P	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	240					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GAGCAAGATGAACTCTGACTA	0.458													G	136599301	A	G	136599301	3	3	84	1	0	0	0	0	1	0	0	0	1383	246	9	3	2084	3	BCLAF1	6	136599301	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	14973326	136599301	34515766	520	56063											
KIAA1244	57221	broad.mit.edu	37	chr6	138640990	138640990	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgtgagctggtggtggAgcacattcaaagctttctac	12	9	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:138640990A>C	uc003qhu.2	+	28	4625	c.4625A>C	c.(4624-4626)GAG>GCG	p.E1542A		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1542					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTGGTGGTGGAGCACATTCAA	0.493													C	138640990	A	C	138640990	3	2	84	1	0	0	0	0	1	0	0	0	8217	304	11	5	4735	5	KIAA1244	6	138640990	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2041689	138640990	32474077	521	56064											
GRM1	2911	broad.mit.edu	37	chr6	146350787	146350787	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccagaatggacggagatgTcatcattggagccctcttct	12	10	4	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:146350787T>C	uc010khw.1	+	2	604	c.134T>C	c.(133-135)GTC>GCC	p.V45A	GRM1_uc010khu.1_Missense_Mutation_p.V45A|GRM1_uc010khv.1_Missense_Mutation_p.V45A|GRM1_uc003qll.2_Missense_Mutation_p.V45A|GRM1_uc011edz.1_Missense_Mutation_p.V45A|GRM1_uc011eea.1_Missense_Mutation_p.V45A	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	45	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GACGGAGATGTCATCATTGGA	0.592													C	146350787	T	C	146350787	3	2	84	1	0	0	0	0	1	0	0	0	6796	1667	58	3	136	3	GRM1	6	146350787	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	7709797	146350787	24764280	522	56065											
GRM1	2911	broad.mit.edu	37	chr6	146625839	146625839	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagtctccagaggtcaGgtcatttgatgattatttcc	10	9	3	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:146625839G>T	uc010khw.1	+	4	1513	c.1043G>T	c.(1042-1044)AGG>ATG	p.R348M	GRM1_uc010khv.1_Missense_Mutation_p.R348M|GRM1_uc003qll.2_Missense_Mutation_p.R348M|GRM1_uc011edz.1_Missense_Mutation_p.R348M|GRM1_uc011eea.1_Missense_Mutation_p.R348M	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	348	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCAGAGGTCAGGTCATTTGAT	0.488													T	146625839	G	T	146625839	3	4	84	1	0	0	0	0	1	0	0	0	6796	1000	35	5	1053	5	GRM1	6	146625839	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	275052	146625839	24489228	523	56066											
GRM1	2911	broad.mit.edu	37	chr6	146755301	146755301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacaggcgcgtgccaagcgCggcgaccactccgcctctgc	13	18	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:146755301C>T	uc010khw.1	+	9	3424	c.2954C>T	c.(2953-2955)GCG>GTG	p.A985V	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	985	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GTGCCAAGCGCGGCGACCACT	0.662													T	146755301	C	T	146755301	3	4	84	1	0	0	0	0	1	0	0	0	6796	768	27	1	3049	1	GRM1	6	146755301	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	129462	146755301	24359766	524	56067											
GRM1	2911	broad.mit.edu	37	chr6	146755495	146755495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgatcccggattttcacGcggtgctggcaggccccggt	14	15	1	0	rs140795616		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:146755495G>A	uc010khw.1	+	9	3618	c.3148G>A	c.(3148-3150)GCG>ACG	p.A1050T	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1050	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGATTTTCACGCGGTGCTGGC	0.667													A	146755495	G	A	146755495	3	1	84	1	0	0	0	0	1	0	0	0	6796	1087	38	1	3243	1	GRM1	6	146755495	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	194	146755495	24359572	525	56068											
SASH1	23328	broad.mit.edu	37	chr6	148848672	148848672	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgggaaaaaggtgaaatcAgtgaaagagacgatgagaaa	13	3	1	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:148848672A>G	uc003qme.1	+	12	1843	c.1368A>G	c.(1366-1368)TCA>TCG	p.S456S	SASH1_uc011eeb.1_Silent_p.S217S|SASH1_uc003qmf.1_5'UTR	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	456							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AGGTGAAATCAGTGAAAGAGA	0.413													G	148848672	A	G	148848672	2	3	84	1	0	0	0	0	0	0	0	1	13848	175	7	3		3	SASH1	6	148848672	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2093177	148848672	22266395	526	56069											
NUP43	348995	broad.mit.edu	37	chr6	150048223	150048223	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactgggaagtaagcttgtgAtttcaattcggtcttttgca	10	6	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:150048223A>G	uc003qmz.2	-	8	1082	c.1025T>C	c.(1024-1026)ATC>ACC	p.I342T	NUP43_uc003qmx.3_RNA|NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Missense_Mutation_p.I246T	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	342					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			upper_aerodigestive_tract(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		TAAGCTTGTGATTTCAATTCG	0.413													G	150048223	A	G	150048223	3	3	84	1	0	0	0	0	1	0	0	0	10765	333	12	3	121	3	NUP43	6	150048223	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1199551	150048223	21066844	527	56070											
TULP4	56995	broad.mit.edu	37	chr6	158923753	158923754	+	Frame_Shift_Ins	INS	-	-	G													caagtccaagggcgggcccgINSggggggtggtgacacagctc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:158923752_158923753C>CG	uc003qrf.3	+	12	4414_4415	c.3057_3058C>CG	c.(3055-3060)cccgggfs	p.P1019fs	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	1019					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.V1022fs*80(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AGGGCGGGCCCGGGGGGGTGGT	0.723													G	158923754	-	G	158923753	7	5	84	1	0	1	1	0	0	0	0	0	16773	1116	39	0	3108	0	TULP4	6	158923753	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	8875530	158923753	12191314	528	56071											
T	6862	broad.mit.edu	37	chr6	166572000	166572000	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggaagaactgggcccccaGcccgttggacacggctgctg	14	15	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:166572000G>T	uc003quu.1	-	9	1604	c.1111C>A	c.(1111-1113)CTG>ATG	p.L371M	T_uc003qut.1_Missense_Mutation_p.L372M|T_uc003quv.1_Missense_Mutation_p.L313M	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	371					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TGGGCCCCCAGCCCGTTGGAC	0.677									Chordoma_Familial_Clustering_of				T	166572000	G	T	166572000	3	4	84	1	0	0	0	0	1	0	0	0	15485	962	34	5	200	5	T	6	166572000	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	7648247	166572000	4543067	529	56072											
RPS6KA2	6196	broad.mit.edu	37	chr6	166831826	166831826	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcccatttgcaaaaggggTaaatctgtataattagacaa	9	6	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:166831826T>C	uc003qvb.1	-	19	2044	c.1825A>G	c.(1825-1827)ACC>GCC	p.T609A	RPS6KA2_uc011ego.1_Missense_Mutation_p.T520A|RPS6KA2_uc010kkl.1_Missense_Mutation_p.T520A|RPS6KA2_uc003qvc.1_Missense_Mutation_p.T617A|RPS6KA2_uc003qvd.1_Missense_Mutation_p.T634A|RPS6KA2_uc010kkk.1_Missense_Mutation_p.T41A	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	609	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GCAAAAGGGGTAAATCTGTAT	0.438													C	166831826	T	C	166831826	3	2	84	1	0	0	0	0	1	0	0	0	13651	1638	57	3	388	3	RPS6KA2	6	166831826	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	259826	166831826	4283241	530	56073											
PHF10	55274	broad.mit.edu	37	chr6	170104148	170104148	+	Frame_Shift_Del	DEL	G	G	-													tgcccactttcctgggtgttGggggggcccgctgacaacag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:170104147_170104147TG>T	uc011egy.2	-	11	1528	c.1449_1449CA>A	c.(1447-1449)ccafs	p.P483fs	WDR27_uc003qwx.3_5'Flank|WDR27_uc003qwy.3_5'Flank|WDR27_uc011egw.1_5'Flank|WDR27_uc010kkx.3_5'Flank|C6orf120_uc003qxb.3_3'UTR|PHF10_uc011egz.2_Frame_Shift_Del_p.P481fs	NM_018288	NP_060758	Q8WUB8	PHF10_HUMAN	Homo sapiens PHD finger protein 10 (PHF10), transcript variant 1, mRNA.	483					nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TCCTGGGTGTTGGGGGGGCCC	0.393													-	170104148	G	-	170104148	7	5	84	1	0	1	0	1	0	0	0	0	11821	1348	47	0	52	0	PHF10	6	170104148	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	3272322	170104148	1010919	531	56074											
SUN1	23353	broad.mit.edu	37	chr7	905639	905639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacttacgaaaccaaaacgGcgctgatgagtctgtttggg	11	8	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:905639G>A	uc011jvp.1	+	17	1994	c.1915G>A	c.(1915-1917)GCG>ACG	p.A639T	GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.A556T|SUN1_uc011jvq.1_Missense_Mutation_p.A536T|SUN1_uc003sjg.2_Missense_Mutation_p.A544T|SUN1_uc011jvr.1_Missense_Mutation_p.A437T|SUN1_uc003sji.2_Missense_Mutation_p.A477T|SUN1_uc003sjk.2_Missense_Mutation_p.A278T	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	666	Perinuclear space.|SUN.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						AACCAAAACGGCGCTGATGAG	0.552													A	905639	G	A	905639	3	1	84	1	0	0	0	0	1	0	0	0	15388	1203	42	2	2160	2	SUN1	7	905639	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08		905639	158233024	532	56075											
GET4	51608	broad.mit.edu	37	chr7	933435	933435	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	accagccatccctccggcggGaccccatgtacaacgaggtg	11	16	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:933435G>T	uc003sjl.1	+	7	897	c.805G>T	c.(805-807)GAC>TAC	p.D269Y	GET4_uc003sjj.1_RNA	NM_015949	NP_057033	Q7L5D6	GET4_HUMAN	hypothetical protein LOC51608	269					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding				0						CCTCCGGCGGGACCCCATGTA	0.642													T	933435	G	T	933435	3	4	84	1	0	0	0	0	1	0	0	0	6336	1174	41	5	831	5	GET4	7	933435	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	27796	933435	158205228	533	56076											
FTSJ2	29960	broad.mit.edu	37	chr7	2274830	2274830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgatgactctttcctgCtggcttcaggtttgatgatc	9	10	3	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:2274830C>T	uc003slm.2	-	3	697	c.668G>A	c.(667-669)AGC>AAC	p.S223N	MAD1L1_uc003slh.1_5'Flank|MAD1L1_uc003slf.1_5'Flank|MAD1L1_uc003slg.1_5'Flank|MAD1L1_uc010ksh.1_5'Flank|MAD1L1_uc003sli.1_5'Flank|MAD1L1_uc010ksi.1_5'Flank|MAD1L1_uc010ksj.2_5'Flank|FTSJ2_uc003slk.2_Missense_Mutation_p.S69N|FTSJ2_uc003sll.2_Missense_Mutation_p.S69N|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_Missense_Mutation_p.S69N	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	FtsJ homolog 2	223					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CTCTTTCCTGCTGGCTTCAGG	0.468													T	2274830	C	T	2274830	3	4	84	1	0	0	0	0	1	0	0	0	6088	797	28	2	76	2	FTSJ2	7	2274830	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1341395	2274830	156863833	534	56077											
SDK1	221935	broad.mit.edu	37	chr7	3678636	3678637	+	Missense_Mutation	DNP	GT	GT	AC													ttctttttgctattcaacagGtacattattccatctttgca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:3678636_3678637GT>AC	uc003smx.2	+	3	598_599	c.459_460GT>AC	c.(457-462)AAGTAC>AAACAC	p.Y154H		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	154	Ig-like C2-type 1.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TATTCAACAGGTACATTATTCC	0.401													AC	3678637	GT	AC	3678636	3	1	84	1	0	0	0	0	1	0	0	0	13968	1275	44	4	469	4	SDK1	7	3678636	Missense_Mutation	DNP	GT	TCGA-BR-8372-01A-11D-2340-08	1403806	3678636	155460027	535	56078											
SDK1	221935	broad.mit.edu	37	chr7	4056808	4056808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttcgtggcgcaggtaccGcctggctggccttcccggag	14	15	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:4056808G>A	uc003smx.2	+	17	2565	c.2426G>A	c.(2425-2427)CGC>CAC	p.R809H	SDK1_uc010kso.2_Missense_Mutation_p.R85H	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	809	Fibronectin type-III 2.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGCAGGTACCGCCTGGCTGGC	0.567													A	4056808	G	A	4056808	3	1	84	1	0	0	0	0	1	0	0	0	13968	1087	38	1	2492	1	SDK1	7	4056808	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	378172	4056808	155081855	536	56079											
SDK1	221935	broad.mit.edu	37	chr7	4249683	4249683	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcccccagctttctggcgTtctcagaaataacctccacc	8	16	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:4249683T>G	uc003smx.2	+	38	5567	c.5428T>G	c.(5428-5430)TTC>GTC	p.F1810V	SDK1_uc010kso.2_Missense_Mutation_p.F1066V|SDK1_uc003smy.2_Missense_Mutation_p.F297V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1810	Fibronectin type-III 12.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTTTCTGGCGTTCTCAGAAAT	0.577													G	4249683	T	G	4249683	3	3	84	1	0	0	0	0	1	0	0	0	13968	1725	60	5	5578	5	SDK1	7	4249683	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	192875	4249683	154888980	537	56080											
PMS2	5395	broad.mit.edu	37	chr7	6029582	6029582	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtaacattgatatcaacGcattctaaggcaaaaaagaa	8	6	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:6029582G>A	uc003spl.2	-	10	1080	c.993C>T	c.(991-993)TGC>TGT	p.C331C	PMS2_uc003spj.2_Silent_p.C225C|PMS2_uc003spk.2_Silent_p.C196C|PMS2_uc011jwl.1_Silent_p.C196C|PMS2_uc010ktg.2_Silent_p.C20C|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Silent_p.C331C	NM_000535	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 isoform	331					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TGATATCAACGCATTCTAAGG	0.219			Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				A	6029582	G	A	6029582	2	1	84	1	0	0	0	0	0	0	0	1	12143	1079	38	1		1	PMS2	7	6029582	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1779899	6029582	153109081	538	56081											
THSD7A	221981	broad.mit.edu	37	chr7	11501698	11501698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatagaggggatctgtgCagtctcggcccccgttggct	13	12	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:11501698C>T	uc003ssf.3	-	10	2693	c.2441G>A	c.(2440-2442)TGC>TAC	p.C814Y		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	814	TSP type-1 8.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGGATCTGTGCAGTCTCGGCC	0.537										HNSCC(18;0.044)			T	11501698	C	T	11501698	3	4	84	1	0	0	0	0	1	0	0	0	15876	710	25	2	2604	2	THSD7A	7	11501698	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	5472116	11501698	147636965	539	56082											
ETV1	2115	broad.mit.edu	37	chr7	13975473	13975473	+	Frame_Shift_Del	DEL	G	G	-													actggcgtgctggatggtgtGggggggttggagggcctcat							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:13975472_13975472TG>T	uc021zzz.1	-	5	502	c.415_415CA>A	c.(415-417)acafs	p.T139fs	ETV1_uc021zzt.1_Frame_Shift_Del_p.T99fs|ETV1_uc021zzu.1_Intron|ETV1_uc021zzv.1_Frame_Shift_Del_p.T81fs|ETV1_uc021zzw.1_Frame_Shift_Del_p.T99fs|ETV1_uc021zzx.1_Intron|ETV1_uc021zzy.1_Frame_Shift_Del_p.T81fs|ETV1_uc022aaa.1_Frame_Shift_Del_p.T121fs|ETV1_uc022aab.1_Frame_Shift_Del_p.T139fs|ETV1_uc003ssw.4_Frame_Shift_Del_p.T139fs|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Frame_Shift_Del_p.T121fs|ETV1_uc022aad.1_Frame_Shift_Del_p.T121fs|ETV1_uc010ktv.3_Frame_Shift_Del_p.T8fs	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	139					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGGATGGTGTGGGGGGGTTG	0.532			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								-	13975473	G	-	13975473	7	5	84	1	0	1	0	1	0	0	0	0	5277	1335	47	0	1047	0	ETV1	7	13975473	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	2473775	13975473	145163190	540	56083											
CDCA7L	55536	broad.mit.edu	37	chr7	21946038	21946038	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcatacgccgcgtgatctGtccctccgagaaggcccgcc	11	16	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:21946038G>A	uc010kuk.2	-	6	910	c.790C>T	c.(790-792)CAG>TAG	p.Q264*	CDCA7L_uc003sve.3_Nonsense_Mutation_p.Q230*|CDCA7L_uc010kul.2_Nonsense_Mutation_p.Q218*|CDCA7L_uc003svf.3_Nonsense_Mutation_p.Q263*	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like isoform 1	264					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus					0						CGCGTGATCTGTCCCTCCGAG	0.542													A	21946038	G	A	21946038	4	1	84	1	0	0	0	0	0	1	0	0	3091	1386	48	4	594	4	CDCA7L	7	21946038	Nonsense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	7970565	21946038	137192625	541	56084											
IGF2BP3	10643	broad.mit.edu	37	chr7	23509592	23509592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttgagggcccagctctcGtccgggcagtccacgaacgc	13	16	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:23509592G>A	uc003swg.2	-	1	404	c.138C>T	c.(136-138)GAC>GAT	p.D46D	IGF2BP3_uc003swh.1_RNA	NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding	46	RRM 1.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			ovary(2)	2						CCCAGCTCTCGTCCGGGCAGT	0.697													A	23509592	G	A	23509592	2	1	84	1	0	0	0	0	0	0	0	1	7575	1136	40	1		1	IGF2BP3	7	23509592	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1563554	23509592	135629071	542	56085											
HOXA2	3199	broad.mit.edu	37	chr7	27140534	27140534	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggggacctcaagggcctcAggactgtcattgtttaggcc	14	10	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:27140534A>C	uc003syh.2	-	2	1217	c.942T>G	c.(940-942)CCT>CCG	p.P314P		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	314						nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CAAGGGCCTCAGGACTGTCAT	0.502													C	27140534	A	C	27140534	2	2	84	1	0	0	0	0	0	0	0	1	7292	175	7	5		5	HOXA2	7	27140534	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	3630942	27140534	131998129	543	56086											
HOXA7	3204	broad.mit.edu	37	chr7	27195865	27195865	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctcgtccgtcttgtcgcaGgcgcctttggcgaggtcact	12	15	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:27195865G>T	uc003sys.2	-	1	432	c.300C>A	c.(298-300)GCC>GCA	p.A100A		NM_006896	NP_008827	P31268	HXA7_HUMAN	homeobox A7	100					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding				0						TCTTGTCGCAGGCGCCTTTGG	0.682													T	27195865	G	T	27195865	2	4	84	1	0	0	0	0	0	0	0	1	7297	987	35	5		5	HOXA7	7	27195865	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	55331	27195865	131942798	544	56087											
AQP1	358	broad.mit.edu	37	chr7	30963164	30963164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcacagaccgcgtgaagGtgtggaccagcggccaggtg	15	12	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:30963164G>A	uc003tbv.1	+	4	787	c.730G>A	c.(730-732)GTG>ATG	p.V244M	AQP1_uc011kac.1_Missense_Mutation_p.V304M|AQP1_uc010kwf.1_Missense_Mutation_p.V161M|AQP1_uc010kwg.1_Missense_Mutation_p.V125M|AQP1_uc010kwh.1_Missense_Mutation_p.V193M	NM_198098	NP_932766	P29972	AQP1_HUMAN	aquaporin 1	244	Cytoplasmic.				ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport	apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole	ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity				0		Melanoma(862;0.16)			Acetazolamide(DB00819)	CCGCGTGAAGGTGTGGACCAG	0.602													A	30963164	G	A	30963164	3	1	84	1	0	0	0	0	1	0	0	0	821	1261	44	4	1001	4	AQP1	7	30963164	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	3767299	30963164	128175499	545	56088											
GPR141	353345	broad.mit.edu	37	chr7	37780555	37780555	+	Frame_Shift_Del	DEL	T	T	-													catcaactatatgatagtcaTttttgtcatagccgttgctg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:37780555delT	uc003tfm.1	+	1	560	c.560delT	c.(559-561)ATTfs	p.I187fs	uc003tfl.2_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	187	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						ATGATAGTCATTTTTGTCATA	0.403													-	37780555	T	-	37780555	7	5	84	1	0	1	0	1	0	0	0	0	6649	1493	52	0	562	0	GPR141	7	37780555	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	6817391	37780555	121358108	546	56089											
EPDR1	54749	broad.mit.edu	37	chr7	37960770	37960770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggctcaaccagcgcgtgCgggtgctggacgagaggaag	18	10	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:37960770C>T	uc003tfp.2	+	1	608	c.589C>T	c.(589-591)CGG>TGG	p.R197W	EPDR1_uc003tfq.2_Missense_Mutation_p.R197W|EPDR1_uc010kxh.2_5'Flank	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	77					cell-matrix adhesion	extracellular region	calcium ion binding			upper_aerodigestive_tract(1)	1						CCAGCGCGTGCGGGTGCTGGA	0.706													T	37960770	C	T	37960770	3	4	84	1	0	0	0	0	1	0	0	0	5163	759	27	1	591	1	EPDR1	7	37960770	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	180215	37960770	121177893	547	56090											
VPS41	27072	broad.mit.edu	37	chr7	38794339	38794339	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtcttccaattcttccActacctttttaatctagata	3	11	4	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:38794339A>C	uc003tgy.2	-	21	1777	c.1751T>G	c.(1750-1752)GTG>GGG	p.V584G	VPS41_uc003tgz.2_Missense_Mutation_p.V559G|VPS41_uc010kxn.2_Missense_Mutation_p.V495G	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	584	Clathrin.				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						CAATTCTTCCACTACCTTTTT	0.413													C	38794339	A	C	38794339	3	2	84	1	0	0	0	0	1	0	0	0	17207	159	6	5	849	5	VPS41	7	38794339	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	833569	38794339	120344324	548	56091											
ZMIZ2	83637	broad.mit.edu	37	chr7	44805082	44805082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacgtgctcatgcccagcGtgatggagatgatcgccgcc	12	15	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:44805082G>A	uc003tlr.2	+	16	2269	c.2146G>A	c.(2146-2148)GTG>ATG	p.V716M	ZMIZ2_uc003tlq.2_Missense_Mutation_p.V658M|ZMIZ2_uc003tls.2_Missense_Mutation_p.V690M|ZMIZ2_uc003tlt.2_Missense_Mutation_p.V339M|ZMIZ2_uc010kyj.2_Missense_Mutation_p.V238M|ZMIZ2_uc003tlu.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	716					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						CATGCCCAGCGTGATGGAGAT	0.697													A	44805082	G	A	44805082	3	1	84	1	0	0	0	0	1	0	0	0	17694	1145	40	1	2204	1	ZMIZ2	7	44805082	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	6010743	44805082	114333581	549	56092											
ABCA13	154664	broad.mit.edu	37	chr7	48313595	48313595	+	Frame_Shift_Del	DEL	A	A	-													gtaacttgggtgttaaatatAaaaaaacctctttgttcatc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:48313594_48313594TA>T	uc003toq.2	+	16	4355	c.4331_4331TA>T	c.(4330-4332)atafs	p.I1444fs	ABCA13_uc010kyr.2_Frame_Shift_Del_p.I947fs|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1444					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTGTTAAATATAAAAAAACCT	0.269													-	48313595	A	-	48313595	7	5	84	1	0	1	0	1	0	0	0	0	31	352	13	0	4227	0	ABCA13	7	48313595	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	3508513	48313595	110825068	550	56093											
ABCA13	154664	broad.mit.edu	37	chr7	48317944	48317944	+	Frame_Shift_Del	DEL	T	T	-													agactgaaaataatatagacTttttcacagtggtgagtcag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:48317943_48317943CT>C	uc003toq.2	+	17	7176	c.7152_7152CT>C	c.(7150-7152)gacfs	p.D2384fs	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2384					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATAATATAGACTTTTTCACAG	0.353													-	48317944	T	-	48317944	7	5	84	1	0	1	0	1	0	0	0	0	31	1609	56	0	7052	0	ABCA13	7	48317944	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	4349	48317944	110820719	551	56094											
POM121L12	285877	broad.mit.edu	37	chr7	53103659	53103659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtctccgagggctggaggCgccctgcccttcccggggag	17	14	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:53103659C>T	uc003tpz.2	+	1	311	c.295C>T	c.(295-297)CGC>TGC	p.R99C		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	99											0						GGGCTGGAGGCGCCCTGCCCT	0.721													T	53103659	C	T	53103659	3	4	84	1	0	0	0	0	1	0	0	0	12241	768	27	1	297	1	POM121L12	7	53103659	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	4785715	53103659	106035004	552	56095											
ZNF92	168374	broad.mit.edu	37	chr7	64864403	64864403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacaaatgtgaagaatgtgGcaaagcctttagtgtattct	9	6	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:64864403G>A	uc003ttz.2	+	4	1519	c.1376G>A	c.(1375-1377)GGC>GAC	p.G459D	ZNF92_uc003tua.2_Missense_Mutation_p.G390D|ZNF92_uc010kzu.2_Missense_Mutation_p.G427D|ZNF92_uc003tub.2_Missense_Mutation_p.G383D	NM_152626	NP_689839	Q03936	ZNF92_HUMAN	zinc finger protein 92 isoform 2	459	C2H2-type 12.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(55;0.159)				GAAGAATGTGGCAAAGCCTTT	0.353													A	64864403	G	A	64864403	3	1	84	1	0	0	0	0	1	0	0	0	18198	1203	42	2	1390	2	ZNF92	7	64864403	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	11760744	64864403	94274260	553	56096											
AUTS2	26053	broad.mit.edu	37	chr7	69064751	69064751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccggcgcggccggcggcGgcggggctggccggacccgg	24	15	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:69064751G>A	uc003tvw.3	+	1	855	c.112G>A	c.(112-114)GGC>AGC	p.G38S	AUTS2_uc003tvv.3_Missense_Mutation_p.G38S|AUTS2_uc003tvx.3_Missense_Mutation_p.G38S	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	38										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ggccggcggcggcggggctgg	0.498													A	69064751	G	A	69064751	3	1	84	1	0	0	0	0	1	0	0	0	1225	1116	39	1	114	1	AUTS2	7	69064751	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	4200348	69064751	90073912	554	56097											
WBSCR17	64409	broad.mit.edu	37	chr7	70800611	70800611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccggctactctttcccCggctgaagaagaaaaggcta	9	13	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:70800611C>T	uc003tvy.2	+	2	314	c.314C>T	c.(313-315)CCG>CTG	p.P105L	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	105	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ACTCTTTCCCCGGCTGAAGAA	0.473													T	70800611	C	T	70800611	3	4	84	1	0	0	0	0	1	0	0	0	17261	652	23	1	320	1	WBSCR17	7	70800611	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1735860	70800611	88338052	555	56098											
WBSCR22	114049	broad.mit.edu	37	chr7	73106939	73106939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttcaggtccggggatcccGagctgtcctgcagctgtacc	12	14	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:73106939G>A	uc003tyt.2	+	7	531	c.473G>A	c.(472-474)CGA>CAA	p.R158Q	WBSCR22_uc010lbi.1_RNA|WBSCR22_uc003tyu.2_Missense_Mutation_p.R158Q|WBSCR22_uc003tyv.2_Missense_Mutation_p.R120Q|WBSCR22_uc003tyw.1_Missense_Mutation_p.R21Q	NM_017528	NP_059998	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	158						nucleus	methyltransferase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				CGGGGATCCCGAGCTGTCCTG	0.522													A	73106939	G	A	73106939	3	1	84	1	0	0	0	0	1	0	0	0	17262	1058	37	1	499	1	WBSCR22	7	73106939	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	2306328	73106939	86031724	556	56099											
EIF4H	7458	broad.mit.edu	37	chr7	73609551	73609551	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacctcgaacagtcgcgacGcccctcaatcaagtagccaa	7	15	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:73609551G>A	uc003uad.1	+	7	668	c.660G>A	c.(658-660)ACG>ACA	p.T220T	RFC2_uc011kfa.1_Intron|EIF4H_uc010lbm.2_Intron|EIF4H_uc003uae.1_Silent_p.T200T|EIF4H_uc003uaf.1_RNA	NM_022170	NP_071496	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	220					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0						CAGTCGCGACGCCCCTCAATC	0.532													A	73609551	G	A	73609551	2	1	84	1	0	0	0	0	0	0	0	1	5039	1074	38	1		1	EIF4H	7	73609551	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	502612	73609551	85529112	557	56100											
SEMA3D	223117	broad.mit.edu	37	chr7	84642151	84642151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccatattttacatcttggCgtctagctctcctgcggaaa	8	12	3	0	rs150646719	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:84642151C>T	uc003uic.2	-	15	1755	c.1715G>A	c.(1714-1716)CGC>CAC	p.R572H	SEMA3D_uc010led.2_Missense_Mutation_p.R572H|SEMA3D_uc003uib.2_Missense_Mutation_p.R211H	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	572	PSI.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						TACATCTTGGCGTCTAGCTCT	0.408													T	84642151	C	T	84642151	3	4	84	1	0	0	0	0	1	0	0	0	14027	768	27	1	630	1	SEMA3D	7	84642151	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	11032600	84642151	74496512	558	56101											
GRM3	2913	broad.mit.edu	37	chr7	86394652	86394652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggcgaatcaatgaagaccGagggattcaacgcctggaag	14	8	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:86394652G>A	uc003uid.2	+	2	1290	c.191G>A	c.(190-192)CGA>CAA	p.R64Q	GRM3_uc010lef.2_Missense_Mutation_p.R62Q|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	64	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AATGAAGACCGAGGGATTCAA	0.418													A	86394652	G	A	86394652	3	1	84	1	0	0	0	0	1	0	0	0	6798	1058	37	1	193	1	GRM3	7	86394652	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1752501	86394652	72744011	559	56102											
GRM3	2913	broad.mit.edu	37	chr7	86479839	86479839	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggttcagtgtcagtggaActgggaccacatactctcag	11	10	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:86479839A>G	uc003uid.2	+	5	3644	c.2545A>G	c.(2545-2547)ACT>GCT	p.T849A	GRM3_uc010lef.2_Missense_Mutation_p.N491S|GRM3_uc010leg.2_Missense_Mutation_p.T721A|GRM3_uc010leh.2_Missense_Mutation_p.T441A	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	849	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGTCAGTGGAACTGGGACCAC	0.478													G	86479839	A	G	86479839	3	3	84	1	0	0	0	0	1	0	0	0	6798	43	2	3	2559	3	GRM3	7	86479839	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	85187	86479839	72658824	560	56103											
ABCB1	5243	broad.mit.edu	37	chr7	87148696	87148696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaagtaggctccaaacCggaaacatccagcataggaa	8	13	0	0	rs144369247		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:87148696C>T	uc003uiz.1	-	24	3291	c.2873G>A	c.(2872-2874)CGG>CAG	p.R958Q	ABCB1_uc011khc.1_Missense_Mutation_p.R894Q	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	958	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GGCTCCAAACCGGAAACATCC	0.323													T	87148696	C	T	87148696	3	4	84	1	0	0	0	0	1	0	0	0	40	652	23	1	993	1	ABCB1	7	87148696	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	668857	87148696	71989967	561	56104											
ABCB1	5243	broad.mit.edu	37	chr7	87165820	87165820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgagcctggtagtcaatgctCcagtggtgtttttagggtca	13	8	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:87165820C>T	uc003uiz.1	-	21	2853	c.2435G>A	c.(2434-2436)GGA>GAA	p.G812E	ABCB1_uc011khc.1_Missense_Mutation_p.G748E	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	812	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AGTCAATGCTCCAGTGGTGTT	0.398													T	87165820	C	T	87165820	3	4	84	1	0	0	0	0	1	0	0	0	40	855	30	4	1443	4	ABCB1	7	87165820	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	17124	87165820	71972843	562	56105											
DLX6	1750	broad.mit.edu	37	chr7	96639203	96639203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccccctccagggctcggcGgccctgtcgccacgctcgcc	12	21	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:96639203G>A	uc003uom.2	+	4	642	c.642G>A	c.(640-642)GCG>GCA	p.A214A	DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	distal-less homeobox 6	124					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					AGGGCTCGGCGGCCCTGTCGC	0.577													A	96639203	G	A	96639203	2	1	84	1	0	0	0	0	0	0	0	1	4575	1103	39	1		1	DLX6	7	96639203	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	9473383	96639203	62499460	563	56106											
NPTX2	4885	broad.mit.edu	37	chr7	98254285	98254285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggtgtccctcccactccGcacaaactacctatacggca	6	17	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:98254285G>A	uc003upl.2	+	3	872	c.695G>A	c.(694-696)CGC>CAC	p.R232H		NM_002523	NP_002514	P47972	NPTX2_HUMAN	neuronal pentraxin II precursor	232	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			central_nervous_system(2)|skin(1)	3	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCCACTCCGCACAAACTAC	0.597													A	98254285	G	A	98254285	3	1	84	1	0	0	0	0	1	0	0	0	10603	1087	38	1	705	1	NPTX2	7	98254285	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1615082	98254285	60884378	564	56107											
TRRAP	8295	broad.mit.edu	37	chr7	98574685	98574685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgattgcttacgagcagcacGggttctttgagcaggtaaac	12	9	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:98574685G>A	uc003upp.2	+	55	8559	c.8350G>A	c.(8350-8352)GGG>AGG	p.G2784R	TRRAP_uc011kis.1_Missense_Mutation_p.G2766R|TRRAP_uc003upr.2_Missense_Mutation_p.G2483R	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2784	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CGAGCAGCACGGGTTCTTTGA	0.488													A	98574685	G	A	98574685	3	1	84	1	0	0	0	0	1	0	0	0	16598	1116	39	1	8506	1	TRRAP	7	98574685	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	320400	98574685	60563978	565	56108											
ZNF789	285989	broad.mit.edu	37	chr7	99084582	99084582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttacggtccataaacagtGtcacctgcaaaacaagccat	6	12	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:99084582G>A	uc003uqq.1	+	5	968	c.749G>A	c.(748-750)TGT>TAT	p.C250Y	ZNF789_uc010lfw.1_Missense_Mutation_p.C155Y|ZNF789_uc003uqr.1_Missense_Mutation_p.C192Y	NM_213603	NP_998768	Q5FWF6	ZN789_HUMAN	zinc finger protein 789 isoform 1	250	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CATAAACAGTGTCACCTGCAA	0.428													A	99084582	G	A	99084582	3	1	84	1	0	0	0	0	1	0	0	0	18157	1377	48	4	805	4	ZNF789	7	99084582	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	509897	99084582	60054081	566	56109											
ZNF394	84124	broad.mit.edu	37	chr7	99092122	99092122	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttttccaccctgtcctcaTgggtactgccacacttagaa	7	14	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:99092122T>C	uc003uqs.2	-	3	877	c.716A>G	c.(715-717)CAT>CGT	p.H239R	ZNF394_uc003uqt.2_Missense_Mutation_p.H32R	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	zinc finger protein 394	239					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCTGTCCTCATGGGTACTGCC	0.498													C	99092122	T	C	99092122	3	2	84	1	0	0	0	0	1	0	0	0	17877	1464	51	3	973	3	ZNF394	7	99092122	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	7540	99092122	60046541	567	56110											
GAL3ST4	79690	broad.mit.edu	37	chr7	99764249	99764249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggtagccaaactggtagCgggcagggagggcgaagcgc	19	8	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:99764249C>T	uc003utt.2	-	2	1322	c.305G>A	c.(304-306)CGC>CAC	p.R102H	GAL3ST4_uc003utu.2_Missense_Mutation_p.R102H|GAL3ST4_uc010lgq.2_Intron	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	102	Lumenal (Potential).				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAACTGGTAGCGGGCAGGGAG	0.612													T	99764249	C	T	99764249	3	4	84	1	0	0	0	0	1	0	0	0	6200	768	27	1	1163	1	GAL3ST4	7	99764249	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	672127	99764249	59374414	568	56111											
PLOD3	8985	broad.mit.edu	37	chr7	100849593	100849593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaggacaccatgatgtagCgtgtgccccaggtcgttggc	13	11	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:100849593C>T	uc003uyd.2	-	19	2642	c.2186G>A	c.(2185-2187)CGC>CAC	p.R729H	PLOD3_uc010lhs.2_Missense_Mutation_p.R294H	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	729	Fe2OG dioxygenase.	Potential.			protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CATGATGTAGCGTGTGCCCCA	0.637													T	100849593	C	T	100849593	3	4	84	1	0	0	0	0	1	0	0	0	12103	768	27	1	34	1	PLOD3	7	100849593	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1085344	100849593	58289070	569	56112											
CUX1	1523	broad.mit.edu	37	chr7	101837135	101837135	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgcagcattctgaagtccAtggagtttgcaccgtccgag	11	11	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:101837135A>G	uc003uyx.3	+	13	1128	c.1090A>G	c.(1090-1092)ATG>GTG	p.M364V	CUX1_uc003uys.3_Missense_Mutation_p.M375V|CUX1_uc003uyt.2_Missense_Mutation_p.M375V|CUX1_uc011kkn.1_Missense_Mutation_p.M336V|CUX1_uc003uyw.2_Missense_Mutation_p.M329V|CUX1_uc003uyv.2_Missense_Mutation_p.M359V|CUX1_uc003uyu.2_Missense_Mutation_p.M373V	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	364					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						TCTGAAGTCCATGGAGTTTGC	0.398													G	101837135	A	G	101837135	3	3	84	1	0	0	0	0	1	0	0	0	4064	217	8	3	1207	3	CUX1	7	101837135	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	987542	101837135	57301528	570	56113											
SLC26A5	375611	broad.mit.edu	37	chr7	103061308	103061308	+	Frame_Shift_Del	DEL	T	T	-													catataaatgatatttcttaTttttttaggagtacatctga							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:103061308delT	uc003vbz.2	-	4	405	c.169delA	c.(169-171)ATAfs	p.I57fs	SLC26A5_uc003vbt.1_Frame_Shift_Del_p.I57fs|SLC26A5_uc003vbu.1_Frame_Shift_Del_p.I57fs|SLC26A5_uc003vbv.1_Frame_Shift_Del_p.I57fs|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Frame_Shift_Del_p.I57fs|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	57	Cytoplasmic (Potential).				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						ATATTTCTTATTTTTTTAGGA	0.353													-	103061308	T	-	103061308	7	5	84	1	0	1	0	1	0	0	0	0	14520	1493	52	0	2174	0	SLC26A5	7	103061308	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	1224173	103061308	56077355	571	56114											
MLL5	55904	broad.mit.edu	37	chr7	104753084	104753084	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgctgctgccgtagtcccCcctcctcctccaccaccacc	5	23	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:104753084C>A	uc003vcm.2	+	27	5415	c.4881C>A	c.(4879-4881)CCC>CCA	p.P1627P	MLL5_uc010ljc.2_Silent_p.P1627P|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Silent_p.P361P	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1627	Pro-rich.				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						CCGTAGTCCCCCCTCCTCCTC	0.552													A	104753084	C	A	104753084	2	1	84	1	0	0	0	0	0	0	0	1	9624	610	22	5		5	MLL5	7	104753084	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1691776	104753084	54385579	572	56115											
PIK3CG	5294	broad.mit.edu	37	chr7	106508995	106508995	+	Frame_Shift_Del	DEL	C	C	-													gccactggtggatgactgcaCgggagtcaccggctaccatg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:106508994_106508994AC>A	uc003vdv.4	+	1	1073	c.988_988AC>A	c.(988-990)acgfs	p.T330fs	PIK3CG_uc003vdu.3_Frame_Shift_Del_p.T330fs|PIK3CG_uc003vdw.3_Frame_Shift_Del_p.T330fs	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	330					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGATGACTGCACGGGAGTCAC	0.597													-	106508995	C	-	106508995	7	5	84	1	0	1	0	1	0	0	0	0	11916	536	19	0	991	0	PIK3CG	7	106508995	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	1755911	106508995	52629668	573	56116											
LAMB4	22798	broad.mit.edu	37	chr7	107664504	107664505	+	Frame_Shift_Ins	INS	-	-	T													tagctatagcacctagcataINSttttttttcttgttcaacaa							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:107664504_107664505insT	uc010ljo.1	-	34	5349_5350	c.5265_5266insA	c.(5263-5268)AAATATfs	p.K1755fs	LAMB4_uc003vey.2_Frame_Shift_Ins_p.K1755fs	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1755_1756	Potential.|Domain I.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						CACCTAGCATATTTTTTTTCTT	0.376													T	107664505	-	T	107664504	7	5	84	1	0	1	1	0	0	0	0	0	8613	449	16	0	23	0	LAMB4	7	107664504	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	1155509	107664504	51474159	574	56117											
NRCAM	4897	broad.mit.edu	37	chr7	107807391	107807391	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctcaaacacatcctcTgaactcacaaaaccagagtc	4	15	3	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:107807391T>C	uc003vfb.2	-	30	3912	c.3441A>G	c.(3439-3441)TCA>TCG	p.S1147S	NRCAM_uc003vfc.2_Intron|NRCAM_uc011kmk.1_Intron|NRCAM_uc003vfd.2_Intron|NRCAM_uc003vfe.2_Intron|NRCAM_uc011kmj.1_Intron	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	1147	Fibronectin type-III 5.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						ACACATCCTCTGAACTCACAA	0.552													C	107807391	T	C	107807391	2	2	84	1	0	0	0	0	0	0	0	1	10644	1567	55	3		3	NRCAM	7	107807391	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	142887	107807391	51331272	575	56118											
LRRN3	54674	broad.mit.edu	37	chr7	110763371	110763371	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agattgcagatgatcaacagTaagtggtttgatgctcttcc	10	7	2	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:110763371T>C	uc003vft.3	+	4	1589	c.543T>C	c.(541-543)AGT>AGC	p.S181S	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.S181S|LRRN3_uc003vfs.3_Silent_p.S181S	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	181	Extracellular (Potential).|LRR 5.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TGATCAACAGTAAGTGGTTTG	0.358													C	110763371	T	C	110763371	2	2	84	1	0	0	0	0	0	0	0	1	9036	1635	57	3		3	LRRN3	7	110763371	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	2955980	110763371	48375292	576	56119											
MET	4233	broad.mit.edu	37	chr7	116381068	116381068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaacagatctgtctgcctGcaatctacaaggtaggaatc	8	11	4	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:116381068G>A	uc003vij.2	+	5	1877	c.1690G>A	c.(1690-1692)GCA>ACA	p.A564T	MET_uc010lkh.2_Missense_Mutation_p.A564T|MET_uc011knc.1_Missense_Mutation_p.A564T|MET_uc011knd.1_Missense_Mutation_p.A564T|MET_uc011kne.1_Missense_Mutation_p.A536T|MET_uc011knf.1_Missense_Mutation_p.A564T|MET_uc011kng.1_Missense_Mutation_p.A564T|MET_uc011knh.1_Missense_Mutation_p.A564T|MET_uc011kni.1_Missense_Mutation_p.A564T|MET_uc011knj.1_Missense_Mutation_p.A134T|MET_uc011knb.1_Missense_Mutation_p.A564T	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	564	Extracellular (Potential).|IPT/TIG 1.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTGTCTGCCTGCAATCTACAA	0.373			Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				A	116381068	G	A	116381068	3	1	84	1	0	0	0	0	1	0	0	0	9485	1319	46	2	1704	2	MET	7	116381068	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	5617697	116381068	42757595	577	56120											
WNT16	51384	broad.mit.edu	37	chr7	120971879	120971879	+	Frame_Shift_Del	DEL	G	G	-													agcaagtgaaggctggcactGggggggctgctccgatgatg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:120971878_120971878TG>T	uc003vjw.3	+	2	750	c.493_493TG>T	c.(493-495)tggfs	p.W165fs	WNT16_uc003vjv.3_Frame_Shift_Del_p.W155fs|WNT16_uc010lkl.3_Intron	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA.	165					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	p.C168fs*4(2)|p.H164P(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					AGGCTGGCACTGGGGGGGCTG	0.537													-	120971879	G	-	120971879	7	5	84	1	0	1	0	1	0	0	0	0	17382	1357	47	0	573	0	WNT16	7	120971879	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	4590811	120971879	38166784	578	56121											
GPR37	2861	broad.mit.edu	37	chr7	124404154	124404154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggagttggagatgctccGcatgtagtagttgtggcaca	16	6	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:124404154G>A	uc003vli.2	-	1	1528	c.877C>T	c.(877-879)CGG>TGG	p.R293W		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	293	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						GAGATGCTCCGCATGTAGTAG	0.557													A	124404154	G	A	124404154	3	1	84	1	0	0	0	0	1	0	0	0	6691	1086	38	1	972	1	GPR37	7	124404154	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	3432275	124404154	34734509	579	56122											
GPR37	2861	broad.mit.edu	37	chr7	124404490	124404490	+	Frame_Shift_Del	DEL	A	A	-													cccggctctccttggccagtAaaaaagatcgctggctccgg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:124404490delA	uc003vli.2	-	1	1192	c.541delT	c.(541-543)TACfs	p.Y181fs		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	181	Extracellular (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						CTTGGCCAGTAAAAAAGATCG	0.602													-	124404490	A	-	124404490	7	5	84	1	0	1	0	1	0	0	0	0	6691	362	13	0	1308	0	GPR37	7	124404490	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	336	124404490	34734173	580	56123											
LRRC4	64101	broad.mit.edu	37	chr7	127669309	127669309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctcaggcgagatctccGtggtctccactgttactgtg	11	12	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:127669309G>A	uc003vmk.2	-	2	1522	c.1385C>T	c.(1384-1386)ACG>ATG	p.T462M	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	462	Thr-rich.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		CGAGATCTCCGTGGTCTCCAC	0.547													A	127669309	G	A	127669309	3	1	84	1	0	0	0	0	1	0	0	0	8997	1145	40	1	580	1	LRRC4	7	127669309	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	3264819	127669309	31469354	581	56124											
LRRC4	64101	broad.mit.edu	37	chr7	127669674	127669674	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggcctggtccacctccacGaggtagcggcctcgcatgtg	14	14	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:127669674G>A	uc003vmk.2	-	2	1157	c.1020C>T	c.(1018-1020)CTC>CTT	p.L340L	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	340	Extracellular (Potential).|LRRCT.					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		CCACCTCCACGAGGTAGCGGC	0.572													A	127669674	G	A	127669674	2	1	84	1	0	0	0	0	0	0	0	1	8997	1045	37	1		1	LRRC4	7	127669674	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	365	127669674	31468989	582	56125											
ATP6V1F	9296	broad.mit.edu	37	chr7	128505608	128505608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgcagggccaggggcatGttcactgccgaagacctgcg	15	13	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:128505608G>A	uc003voc.1	+	2	397	c.336G>A	c.(334-336)ATG>ATA	p.M112I	KCP_uc003vob.1_Intron	NM_004231	NP_004222	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kD, V1	112					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1						CCAGGGGCATGTTCACTGCCG	0.622													A	128505608	G	A	128505608	3	1	84	1	0	0	0	0	1	0	0	0	1185	1377	48	4	342	4	ATP6V1F	7	128505608	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	835934	128505608	30633055	583	56126											
NUP205	23165	broad.mit.edu	37	chr7	135269586	135269586	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatctgtttctagctctggCagaattcacagaggcagatg	10	8	4	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:135269586C>A	uc003vsw.2	+	8	1080	c.1049C>A	c.(1048-1050)GCA>GAA	p.A350E	NUP205_uc011kqa.1_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	350					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						CTAGCTCTGGCAGAATTCACA	0.383													A	135269586	C	A	135269586	3	1	84	1	0	0	0	0	1	0	0	0	10759	710	25	5	1079	5	NUP205	7	135269586	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	6763978	135269586	23869077	584	56127											
KIAA1549	57670	broad.mit.edu	37	chr7	138603524	138603524	+	Frame_Shift_Del	DEL	A	A	-													gcattaaagaccgggagcttAaaaaaagggtggtttccaca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:138603524delA	uc011kql.1	-	2	897	c.848delT	c.(847-849)TTAfs	p.L283fs	KIAA1549_uc003vuk.3_Frame_Shift_Del_p.L233fs|KIAA1549_uc011kqj.1_Frame_Shift_Del_p.L283fs	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	283						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						CCGGGAGCTTAAAAAAAGGGT	0.517			O	BRAF	pilocytic astrocytoma								-	138603524	A	-	138603524	7	5	84	1	0	1	0	1	0	0	0	0	8244	372	13	0	5080	0	KIAA1549	7	138603524	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	3333938	138603524	20535139	585	56128											
HIPK2	28996	broad.mit.edu	37	chr7	139285327	139285327	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggattataatggcttccGtgagcatgcgtatttctgaa	11	6	1	2	rs144631225	by1000genomes	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:139285327G>A	uc003vvf.3	-	11	2445	c.2271C>T	c.(2269-2271)CAC>CAT	p.H757H	HIPK2_uc003vvd.3_Silent_p.H730H	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	757	Interaction with SKI and SMAD1.|Interaction with POU4F1 (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					AATGGCTTCCGTGAGCATGCG	0.498													A	139285327	G	A	139285327	2	1	84	1	0	0	0	0	0	0	0	1	7117	1136	40	1		1	HIPK2	7	139285327	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	681803	139285327	19853336	586	56129											
AGK	55750	broad.mit.edu	37	chr7	141352635	141352635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaggagtatgaagcgatgCctgtggaggtgaaactgctc	16	6	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:141352635C>T	uc003vwi.2	+	16	1351	c.1180C>T	c.(1180-1182)CCT>TCT	p.P394S		NM_018238	NP_060708	Q53H12	AGK_HUMAN	acylglycerol kinase precursor	394					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			ovary(1)|breast(1)	2	Melanoma(164;0.0171)					TGAAGCGATGCCTGTGGAGGT	0.522													T	141352635	C	T	141352635	3	4	84	1	0	0	0	0	1	0	0	0	383	739	26	2	1238	2	AGK	7	141352635	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2067308	141352635	17786028	587	56130											
ZYX	7791	broad.mit.edu	37	chr7	143085726	143085726	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttctacagtctggagggggCgccgtactgcgagggctgtt	17	9	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:143085726C>A	uc003wcw.2	+	7	1444	c.1289C>A	c.(1288-1290)GCG>GAG	p.A430E	ZYX_uc011ktd.1_Missense_Mutation_p.A273E|ZYX_uc003wcx.2_Missense_Mutation_p.A430E|ZYX_uc011kte.1_Missense_Mutation_p.A399E|ZYX_uc011ktf.1_Missense_Mutation_p.A273E	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN	zyxin	430	LIM zinc-binding 1.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding				0	Melanoma(164;0.205)					CTGGAGGGGGCGCCGTACTGC	0.547													A	143085726	C	A	143085726	3	1	84	1	0	0	0	0	1	0	0	0	18251	768	27	5	1311	5	ZYX	7	143085726	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1733091	143085726	16052937	588	56131											
EPHA1	2041	broad.mit.edu	37	chr7	143096798	143096798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggctcacagtggcaccGtcctacaggcaccagccact	10	17	1	0	rs140233341	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:143096798G>A	uc003wcz.2	-	4	868	c.781C>T	c.(781-783)CGG>TGG	p.R261W		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	261	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CAGTGGCACCGTCCTACAGGC	0.657													A	143096798	G	A	143096798	3	1	84	1	0	0	0	0	1	0	0	0	5165	1144	40	1	2209	1	EPHA1	7	143096798	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	11072	143096798	16041865	589	56132											
LRRC61	65999	broad.mit.edu	37	chr7	150034380	150034380	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaacccgctctgtgccaacCcctcctactgggctgcagtc	9	18	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:150034380C>A	uc003wgv.2	+	3	1104	c.430C>A	c.(430-432)CCC>ACC	p.P144T	LRRC61_uc003wgx.2_Missense_Mutation_p.P144T|LRRC61_uc003wgw.2_Missense_Mutation_p.P144T|LRRC61_uc003wgz.3_Missense_Mutation_p.P144T	NM_023942	NP_076431	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	144	LRRCT.										0			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CTGTGCCAACCCCTCCTACTG	0.657													A	150034380	C	A	150034380	3	1	84	1	0	0	0	0	1	0	0	0	9017	623	22	5	432	5	LRRC61	7	150034380	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	6937582	150034380	9104283	590	56133											
MLL3	58508	broad.mit.edu	37	chr7	151845524	151845524	+	Frame_Shift_Del	DEL	A	A	-													caaagcatagttttgtccttAaaaaacatgcattgtgcttt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:151845523_151845523TA>T	uc003wla.3	-	51	13708	c.13489_13489TA>A	c.(13489-13491)aagfs	p.K4497fs	MLL3_uc003wkz.3_Frame_Shift_Del_p.K3615fs|MLL3_uc003wkx.3_Frame_Shift_Del_p.K655fs|MLL3_uc003wky.3_Frame_Shift_Del_p.K2061fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4497					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.M4551fs*17(1)|p.M4494fs*17(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTTTTGTCCTTAAAAAACATG	0.433			N		medulloblastoma								-	151845524	A	-	151845524	7	5	84	1	0	1	0	1	0	0	0	0	9622	359	13	0	1279	0	MLL3	7	151845524	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	1811144	151845524	7293139	591	56134											
MLL3	58508	broad.mit.edu	37	chr7	152012386	152012386	+	Frame_Shift_Del	DEL	T	T	-													gtctccttgtcctaaggaacTtttttccccacagtaacaaa							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:152012386delT	uc003wla.2	-	4	646	c.427delA	c.(427-429)AGTfs	p.S143fs		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	143					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CCTAAGGAACTTTTTTCCCCA	0.378			N		medulloblastoma								-	152012386	T	-	152012386	7	5	84	1	0	1	0	1	0	0	0	0	9622	1609	56	0	14532	0	MLL3	7	152012386	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	166862	152012386	7126277	592	56135											
DPP6	1804	broad.mit.edu	37	chr7	154672632	154672632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagtacattgacaggacgCgcgtggccgtgtttgggaag	16	8	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:154672632C>T	uc003wlk.2	+	21	2242	c.2113C>T	c.(2113-2115)CGC>TGC	p.R705C	DPP6_uc003wli.2_Missense_Mutation_p.R641C|DPP6_uc003wlm.2_Missense_Mutation_p.R643C|DPP6_uc011kvq.1_Missense_Mutation_p.R598C	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	705	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGACAGGACGCGCGTGGCCGT	0.557													T	154672632	C	T	154672632	3	4	84	1	0	0	0	0	1	0	0	0	4730	768	27	1	2311	1	DPP6	7	154672632	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2660246	154672632	4466031	593	56136											
RBM33	155435	broad.mit.edu	37	chr7	155538000	155538000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaacatccaattttgtaCcatccagtgccaacatgcag	5	13	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:155538000C>T	uc010lqk.1	+	14	3051	c.2683C>T	c.(2683-2685)CCA>TCA	p.P895S	RBM33_uc011kvv.1_Missense_Mutation_p.P704S|RBM33_uc003wmg.2_5'Flank	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	895							nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CAATTTTGTACCATCCAGTGC	0.433													T	155538000	C	T	155538000	3	4	84	1	0	0	0	0	1	0	0	0	13130	507	18	4	2737	4	RBM33	7	155538000	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	865368	155538000	3600663	594	56137											
ERICH1	157697	broad.mit.edu	37	chr8	623502	623502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgtcttcctccccggcccGtgtcaggtcttcctcaatgg	9	17	4	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:623502G>A	uc003wph.2	-	4	915	c.850C>T	c.(850-852)CGG>TGG	p.R284W	ERICH1_uc011kwh.1_Missense_Mutation_p.R284W|ERICH1_uc003wpe.1_Missense_Mutation_p.R190W|ERICH1_uc003wpi.2_Missense_Mutation_p.R96W	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	284	Glu-rich.									large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TCCCCGGCCCGTGTCAGGTCT	0.642													A	623502	G	A	623502	3	1	84	1	0	0	0	0	1	0	0	0	5230	1144	40	1	493	1	ERICH1	8	623502	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08		623502	145740520	595	56138											
ERICH1	157697	broad.mit.edu	37	chr8	642608	642608	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcggggtctcagagccAgtgtctgcaacacaggagga	15	10	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:642608A>G	uc003wph.2	-	3	239	c.174T>C	c.(172-174)ACT>ACC	p.T58T	ERICH1_uc011kwh.1_Silent_p.T58T|ERICH1_uc003wpe.1_Intron	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	58										large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TCTCAGAGCCAGTGTCTGCAA	0.537													G	642608	A	G	642608	2	3	84	1	0	0	0	0	0	0	0	1	5230	175	7	3		3	ERICH1	8	642608	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	19106	642608	145721414	596	56139											
MYOM2	9172	broad.mit.edu	37	chr8	2005503	2005503	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctatggtgaggccaagCgacagcgcttcctcagcgag	13	14	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:2005503C>A	uc003wpx.3	+	4	439	c.301C>A	c.(301-303)CGA>AGA	p.R101R	MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	101					muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGAGGCCAAGCGACAGCGCTT	0.622													A	2005503	C	A	2005503	2	1	84	1	0	0	0	0	0	0	0	1	10092	760	27	5		5	MYOM2	8	2005503	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1362895	2005503	144358519	597	56140											
CSMD1	64478	broad.mit.edu	37	chr8	2944619	2944619	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgaaaacgcatttcttacCctggcagagtggcgtgaggg	14	8	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:2944619C>A	uc011kwk.1	-	49	7867	c.7477G>T	c.(7477-7479)GCT>TCT	p.A2493S	CSMD1_uc011kwj.1_Missense_Mutation_p.A1822S|CSMD1_uc010lrg.2_Missense_Mutation_p.A561S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2493	Sushi 14.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATTTCTTACCCTGGCAGAGT	0.463													A	2944619	C	A	2944619	3	1	84	1	0	0	0	0	1	0	0	0	3944	637	22	5	3308	5	CSMD1	8	2944619	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	939116	2944619	143419403	598	56141											
CSMD1	64478	broad.mit.edu	37	chr8	3263588	3263588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctccagaccacgttccCgtcttgcagtatgcaggtaa	11	12	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:3263588C>T	uc011kwk.1	-	15	2620	c.2230G>A	c.(2230-2232)GGG>AGG	p.G744R	CSMD1_uc011kwj.1_Missense_Mutation_p.G136R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	744	Sushi 4.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCACGTTCCCGTCTTGCAGT	0.552													T	3263588	C	T	3263588	3	4	84	1	0	0	0	0	1	0	0	0	3944	652	23	1	8691	1	CSMD1	8	3263588	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	318969	3263588	143100434	599	56142											
SGK223	157285	broad.mit.edu	37	chr8	8234511	8234511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccatgactgtgatggtggCtgacacctggggagttgggt	17	8	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:8234511C>T	uc003wsh.3	-	2	1408	c.1408G>A	c.(1408-1410)GCC>ACC	p.A470T		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	470							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GTGATGGTGGCTGACACCTGG	0.657													T	8234511	C	T	8234511	3	4	84	1	0	0	0	0	1	0	0	0	14210	797	28	2	2816	2	SGK223	8	8234511	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	4970923	8234511	138129511	600	56143											
MFHAS1	9258	broad.mit.edu	37	chr8	8748510	8748510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgcaggcccaagcgcgCcgagtcccaccagcttagcc	11	19	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:8748510C>T	uc003wsj.1	-	1	2622	c.2059G>A	c.(2059-2061)GCG>ACG	p.A687T		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	687											0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CCCAAGCGCGCCGAGTCCCAC	0.612													T	8748510	C	T	8748510	3	4	84	1	0	0	0	0	1	0	0	0	9521	739	26	2	1111	2	MFHAS1	8	8748510	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	513999	8748510	137615512	601	56144											
FGF20	26281	broad.mit.edu	37	chr8	16850775	16850775	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttagatgaataggtgttatAccagttctcttcaaactgct	8	7	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:16850775A>G	uc003wxc.1	-	3	575	c.442T>C	c.(442-444)TAT>CAT	p.Y148H	FGF20_uc010lsv.1_RNA|FGF20_uc010lsw.1_3'UTR	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	148					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			lung(1)	1				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TAGGTGTTATACCAGTTCTCT	0.383													G	16850775	A	G	16850775	3	3	84	1	0	0	0	0	1	0	0	0	5849	391	14	3	197	3	FGF20	8	16850775	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	8102265	16850775	129513247	602	56145											
MTUS1	57509	broad.mit.edu	37	chr8	17542011	17542011	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgggagctgtctgtggctgGatacataagcttcgaggatt	14	7	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:17542011G>A	uc003wxv.2	-	7	3138	c.2664C>T	c.(2662-2664)ATC>ATT	p.I888I	MTUS1_uc003wxt.2_Silent_p.I135I|MTUS1_uc011kyg.1_Silent_p.I33I|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Silent_p.I834I|MTUS1_uc003wxs.2_Silent_p.I54I|hsa-mir-548v|MI0014174_5'Flank	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	888						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		TCTGTGGCTGGATACATAAGC	0.408													A	17542011	G	A	17542011	2	1	84	1	0	0	0	0	0	0	0	1	9965	1164	41	4		4	MTUS1	8	17542011	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	691236	17542011	128822011	603	56146											
MTUS1	57509	broad.mit.edu	37	chr8	17611350	17611350	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatcctatcaatgttgggaAcataggtcatttccaaacat	6	8	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:17611350A>G	uc003wxv.2	-	2	2441	c.1967T>C	c.(1966-1968)GTT>GCT	p.V656A	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.V656A|MTUS1_uc010lsz.2_Missense_Mutation_p.V656A	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	656						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		AATGTTGGGAACATAGGTCAT	0.408													G	17611350	A	G	17611350	3	3	84	1	0	0	0	0	1	0	0	0	9965	43	2	3	2220	3	MTUS1	8	17611350	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	69339	17611350	128752672	604	56147											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19363078	19363078	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccattcctgagctgctcacTcctctcctgcagctcctcct	5	20	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:19363078T>C	uc011kyn.1	-	4	1332	c.268A>G	c.(268-270)AGT>GGT	p.S90G	CSGALNACT1_uc011kyo.1_Missense_Mutation_p.S90G|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.S89G|CSGALNACT1_uc003wzh.2_RNA	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate	90	Lumenal (Potential).|Potential.				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)		AGCTGCTCACTCCTCTCCTGC	0.632													C	19363078	T	C	19363078	3	2	84	1	0	0	0	0	1	0	0	0	3938	1551	54	3	1358	3	CSGALNACT1	8	19363078	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1751728	19363078	127000944	605	56148											
XPO7	23039	broad.mit.edu	37	chr8	21859729	21859729	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaccacacccctgaaccaGgagagcgaccgctttctgca	10	15	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:21859729G>T	uc003xaa.3	+	25	2991	c.2889G>T	c.(2887-2889)CAG>CAT	p.Q963H	XPO7_uc010lti.2_Missense_Mutation_p.Q972H|XPO7_uc010ltk.2_Missense_Mutation_p.Q964H	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	963					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CCCTGAACCAGGAGAGCGACC	0.552													T	21859729	G	T	21859729	3	4	84	1	0	0	0	0	1	0	0	0	17446	991	35	5	3039	5	XPO7	8	21859729	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	2496651	21859729	124504293	606	56149											
PHYHIP	9796	broad.mit.edu	37	chr8	22085854	22085854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatctcaatgctgtggggcGtggacagcagctccatgctc	13	11	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:22085854G>A	uc003xbk.3	-	3	711	c.17C>T	c.(16-18)ACG>ATG	p.T6M	PHYHIP_uc003xbj.3_Missense_Mutation_p.T6M	NM_001099335	NP_001092805	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	6	Fibronectin type-III.										0				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GCTGTGGGGCGTGGACAGCAG	0.577													A	22085854	G	A	22085854	3	1	84	1	0	0	0	0	1	0	0	0	11866	1145	40	1	991	1	PHYHIP	8	22085854	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	226125	22085854	124278168	607	56150											
PPP3CC	5533	broad.mit.edu	37	chr8	22332491	22332491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctttcctccaacccaacGgcttactttcaaggaagtat	5	15	1	0	rs138834215		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:22332491G>A	uc003xbs.2	+	2	401	c.74G>A	c.(73-75)CGG>CAG	p.R25Q	PPP3CC_uc003xbr.1_Missense_Mutation_p.R25Q|PPP3CC_uc011kzi.1_Missense_Mutation_p.R25Q|PPP3CC_uc003xbt.2_Missense_Mutation_p.R25Q	NM_005605	NP_005596	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma	25					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		CCAACCCAACGGCTTACTTTC	0.323													A	22332491	G	A	22332491	3	1	84	1	0	0	0	0	1	0	0	0	12399	1116	39	1	80	1	PPP3CC	8	22332491	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	246637	22332491	124031531	608	56151											
KIAA1967	57805	broad.mit.edu	37	chr8	22472975	22472976	+	Frame_Shift_Ins	INS	-	-	C													tcagtacctgcagccgggacINSccccccggcggcttcagaca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:22472974_22472975A>AC	uc003xch.3	+	11	1491_1492	c.1242_1243A>AC	c.(1240-1245)ggacccfs	p.G414fs	KIAA1967_uc003xci.3_Frame_Shift_Ins_p.G414fs|KIAA1967_uc003xcj.1_Frame_Shift_Ins_p.G83fs	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	414					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	p.P413P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGCAGCCGGGACCCCCCCGGCG	0.584													C	22472976	-	C	22472975	7	5	84	1	0	1	1	0	0	0	0	0	8265	507	18	0	1285	0	KIAA1967	8	22472975	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	140484	22472975	123891047	609	56152											
KIAA1967	57805	broad.mit.edu	37	chr8	22476529	22476529	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacactggagctgaagctggGtgagggcctggggctgcagc	18	10	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:22476529G>A	uc003xch.2	+	19	2658	c.2521_splice	c.e19+1	p.E841_splice	KIAA1967_uc003xci.2_Splice_Site_p.E841_splice|KIAA1967_uc003xcj.1_Splice_Site_p.E510_splice	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein						apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CTGAAGCTGGGTGAGGGCCTG	0.632													A	22476529	G	A	22476529	5	1	84	1	0	0	0	0	0	0	1	0	8265	1275	44	4	2592	4	KIAA1967	8	22476529	Splice_Site	SNP	G	TCGA-BR-8372-01A-11D-2340-08	3554	22476529	123887493	610	56153											
EGR3	1960	broad.mit.edu	37	chr8	22550321	22550321	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctgtagccatctgattgTaatggactaccgagtcgctg	10	10	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:22550321T>C	uc003xcm.1	-	1	495	c.137A>G	c.(136-138)TAC>TGC	p.Y46C	EGR3_uc011kzn.1_5'Flank|EGR3_uc011kzo.1_5'Flank	NM_004430	NP_004421	Q06889	EGR3_HUMAN	early growth response 3	46					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CATCTGATTGTAATGGACTAC	0.358													C	22550321	T	C	22550321	3	2	84	1	0	0	0	0	1	0	0	0	4973	1638	57	3	1034	3	EGR3	8	22550321	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	73792	22550321	123813701	611	56154											
ADAM28	10863	broad.mit.edu	37	chr8	24167473	24167474	+	Frame_Shift_Ins	INS	-	-	A													aattgcagtgctttatttgaINSaaaaaaacaagtaagtatct							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:24167472_24167473G>GA	uc003xdy.3	+	2	299_300	c.216_217G>GA	c.(214-219)ttgaaafs	p.L72fs	ADAM28_uc003xdx.3_Frame_Shift_Ins_p.L72fs|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	72					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGCTTTATTTGAAAAAAAACAA	0.332													A	24167474	-	A	24167473	7	5	84	1	0	1	1	0	0	0	0	0	246	247	9	0	227	0	ADAM28	8	24167473	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	1617152	24167473	122196549	612	56155											
ADAM7	8756	broad.mit.edu	37	chr8	24333965	24333965	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtatcgcagaaatggtcatcCtcacaataaactaaggaacc	7	10	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:24333965C>A	uc003xeb.2	+	8	766	c.653C>A	c.(652-654)CCT>CAT	p.P218H	ADAM7_uc003xec.2_5'UTR	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	218	Peptidase M12B.|Extracellular (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)		AATGGTCATCCTCACAATAAA	0.299													A	24333965	C	A	24333965	3	1	84	1	0	0	0	0	1	0	0	0	251	681	24	5	683	5	ADAM7	8	24333965	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	166492	24333965	122030057	613	56156											
DOCK5	80005	broad.mit.edu	37	chr8	25158099	25158099	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcctttgccagtgagaacTatctaattcgttggggcagt	10	8	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:25158099T>C	uc003xeg.2	+	9	909	c.772T>C	c.(772-774)TAT>CAT	p.Y258H	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Intron|DOCK5_uc003xef.2_Missense_Mutation_p.Y258H	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	258						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAGTGAGAACTATCTAATTCG	0.433													C	25158099	T	C	25158099	3	2	84	1	0	0	0	0	1	0	0	0	4690	1522	53	3	806	3	DOCK5	8	25158099	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	824134	25158099	121205923	614	56157											
EXTL3	2137	broad.mit.edu	37	chr8	28575186	28575186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggctatgattaggactcGcatccagatcccagccgctc	10	14	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:28575186G>A	uc003xgz.1	+	3	2203	c.1610G>A	c.(1609-1611)CGC>CAC	p.R537H		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	537	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		ATTAGGACTCGCATCCAGATC	0.577													A	28575186	G	A	28575186	3	1	84	1	0	0	0	0	1	0	0	0	5327	1087	38	1	1612	1	EXTL3	8	28575186	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	3417087	28575186	117788836	615	56158											
RBPMS	11030	broad.mit.edu	37	chr8	30402081	30402081	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtaccctctgtacccagcGgagttagcgcctgctctacc	9	17	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:30402081G>A	uc003xic.1	+	6	1133	c.468G>A	c.(466-468)GCG>GCA	p.A156A	RBPMS_uc003xid.1_Silent_p.A156A|RBPMS_uc003xie.1_Silent_p.A156A|RBPMS_uc003xif.1_RNA|RBPMS_uc011lba.1_Silent_p.A156A|RBPMS_uc003xib.2_Silent_p.A156A|RBPMS_uc010lvh.1_Silent_p.A52A	NM_006867	NP_006858	Q93062	RBPMS_HUMAN	RNA-binding protein with multiple splicing	156					positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		TGTACCCAGCGGAGTTAGCGC	0.547													A	30402081	G	A	30402081	2	1	84	1	0	0	0	0	0	0	0	1	13163	1103	39	1		1	RBPMS	8	30402081	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1826895	30402081	115961941	616	56159											
NRG1	3084	broad.mit.edu	37	chr8	32463104	32463104	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagaacttcgcattaacaaAgcatcactggctgattctgg	8	10	3	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:32463104A>G	uc003xiv.2	+	3	820	c.303A>G	c.(301-303)AAA>AAG	p.K101K	NRG1_uc003xip.2_Silent_p.K316K|NRG1_uc003xir.2_Silent_p.K101K|NRG1_uc010lvl.2_Silent_p.K101K|NRG1_uc010lvm.2_Silent_p.K101K|NRG1_uc010lvn.2_Silent_p.K101K|NRG1_uc003xis.2_Silent_p.K101K|NRG1_uc011lbf.1_Silent_p.K101K|NRG1_uc010lvo.2_Silent_p.K101K|NRG1_uc003xiu.2_Silent_p.K101K|NRG1_uc003xiw.2_Silent_p.K101K|NRG1_uc003xit.2_Silent_p.K101K|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Silent_p.K67K|NRG1_uc010lvq.2_Silent_p.K67K|NRG1_uc003xix.2_5'UTR	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	101	Extracellular (Potential).|Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCATTAACAAAGCATCACTGG	0.383													G	32463104	A	G	32463104	2	3	84	1	0	0	0	0	0	0	0	1	10647	69	3	3		3	NRG1	8	32463104	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2061023	32463104	113900918	617	56160											
NRG1	3084	broad.mit.edu	37	chr8	32613931	32613931	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtccaggaaacagcggAaaaagctgcatgaccgtctt	10	9	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:32613931A>G	uc003xiv.2	+	9	1331	c.814A>G	c.(814-816)AAA>GAA	p.K272E	NRG1_uc011lbf.1_Missense_Mutation_p.K269E|NRG1_uc010lvo.2_Missense_Mutation_p.K269E|NRG1_uc003xiu.2_Missense_Mutation_p.K277E|NRG1_uc003xiw.2_Missense_Mutation_p.K269E|NRG1_uc003xit.2_Missense_Mutation_p.K272E|NRG1_uc010lvr.2_Missense_Mutation_p.K14E|NRG1_uc010lvs.2_Missense_Mutation_p.K14E|NRG1_uc010lvp.2_Missense_Mutation_p.K226E|NRG1_uc010lvq.2_Missense_Mutation_p.K209E|NRG1_uc011lbg.1_Missense_Mutation_p.K118E|NRG1_uc011lbh.1_Missense_Mutation_p.K115E|NRG1_uc003xja.2_Missense_Mutation_p.K83E	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	272	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GAAACAGCGGAAAAAGCTGCA	0.428													G	32613931	A	G	32613931	3	3	84	1	0	0	0	0	1	0	0	0	10647	247	9	3	2444	3	NRG1	8	32613931	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	150827	32613931	113750091	618	56161											
KCNU1	157855	broad.mit.edu	37	chr8	36694371	36694371	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagacaacatcatctgctttGctgaattaaaacttggattt	7	7	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:36694371G>C	uc010lvw.2	+	14	1513	c.1426G>C	c.(1426-1428)GCT>CCT	p.A476P	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	476	RCK N-terminal.|Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CATCTGCTTTGCTGAATTAAA	0.428													C	36694371	G	C	36694371	3	2	84	1	0	0	0	0	1	0	0	0	8093	1319	46	5	1480	5	KCNU1	8	36694371	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	4080440	36694371	109669651	619	56162											
ERLIN2	11160	broad.mit.edu	37	chr8	37609162	37609162	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggcagaaaaagtggcccAggtggctgagatcacctacg	14	9	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:37609162A>G	uc003xke.3	+	10	783	c.668A>G	c.(667-669)CAG>CGG	p.Q223R		NM_007175	NP_009106	O94905	ERLN2_HUMAN	ER lipid raft associated 2 isoform 1	223	Interaction with ERLIN1.|Lumenal (Potential).				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding				0		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AAAGTGGCCCAGGTGGCTGAG	0.468													G	37609162	A	G	37609162	3	3	84	1	0	0	0	0	1	0	0	0	5233	188	7	3	741	3	ERLIN2	8	37609162	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	914791	37609162	108754860	620	56163											
GPR124	25960	broad.mit.edu	37	chr8	37672412	37672412	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcctctctgtctcttcAggctcttgagcaataacaag	8	11	4	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:37672412A>G	uc003xkj.2	+	2	630	c.267_splice	c.e2-2	p.L89_splice	GPR124_uc003xki.2_Splice_Site_p.L89_splice|GPR124_uc010lvy.2_Splice_Site_p.L89_splice	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor						central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTGTCTCTTCAGGCTCTTGAG	0.562													G	37672412	A	G	37672412	5	3	84	1	0	0	0	0	0	0	1	0	6638	202	7	3	250	3	GPR124	8	37672412	Splice_Site	SNP	A	TCGA-BR-8372-01A-11D-2340-08	63250	37672412	108691610	621	56164											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37730469	37730469	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggcctggcccctgtctacGagaggccagctttcaattgg	12	12	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:37730469G>A	uc003xkm.1	-	4	1895	c.1851C>T	c.(1849-1851)CTC>CTT	p.L617L	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	617					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CCCTGTCTACGAGAGGCCAGC	0.517													A	37730469	G	A	37730469	2	1	84	1	0	0	0	0	0	0	0	1	12893	1045	37	1		1	RAB11FIP1	8	37730469	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	58057	37730469	108633553	622	56165											
GOT1L1	137362	broad.mit.edu	37	chr8	37793281	37793281	+	Frame_Shift_Del	DEL	G	G	-													atgacacgtgcacccgtgttGggggggtttagccacagggc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:37793280_37793280TG>T	uc011lbj.1	-	6	971	c.871_871CA>A	c.(871-873)aacfs	p.N291fs		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1-like 1 (GOT1L1), mRNA.	291					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			GCACCCGTGTTGGGGGGGTTT	0.607													-	37793281	G	-	37793281	7	5	84	1	0	1	0	1	0	0	0	0	6580	1335	47	0	407	0	GOT1L1	8	37793281	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	62812	37793281	108570741	623	56166											
ADRB3	155	broad.mit.edu	37	chr8	37823533	37823533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagctgtccgggcgcagCgcttggtgaccagtgcgccg	15	15	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:37823533C>T	uc003xkr.1	-	1	652	c.455G>A	c.(454-456)CGC>CAC	p.R152H		NM_000025	NP_000016	P13945	ADRB3_HUMAN	adrenergic, beta-3-, receptor	152	Cytoplasmic (By similarity).				carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity			lung(2)	2	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	CCGGGCGCAGCGCTTGGTGAC	0.687													T	37823533	C	T	37823533	3	4	84	1	0	0	0	0	1	0	0	0	342	768	27	1	779	1	ADRB3	8	37823533	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	30252	37823533	108540489	624	56167											
FGFR1	2260	broad.mit.edu	37	chr8	38282121	38282121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgtgcggctgcgggtcaCtgtacaccttacacatgaac	12	11	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:38282121C>T	uc003xlp.2	-	7	1784	c.842G>A	c.(841-843)AGT>AAT	p.S281N	FGFR1_uc011lbo.1_Missense_Mutation_p.S279N|FGFR1_uc011lbp.1_Missense_Mutation_p.S192N|FGFR1_uc011lbq.1_Missense_Mutation_p.S190N|FGFR1_uc010lwk.2_Missense_Mutation_p.S273N|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.S121N|FGFR1_uc011lbt.1_Missense_Mutation_p.S190N|FGFR1_uc011lbu.1_Missense_Mutation_p.S312N|FGFR1_uc011lbv.1_Missense_Mutation_p.S279N|FGFR1_uc011lbw.1_Missense_Mutation_p.S192N|FGFR1_uc011lbx.1_Missense_Mutation_p.S192N|FGFR1_uc003xlv.2_Missense_Mutation_p.S192N|FGFR1_uc003xlu.2_Missense_Mutation_p.S190N	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	281	Ig-like C2-type 3.|Extracellular (Potential).				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CTGCGGGTCACTGTACACCTT	0.562		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						T	38282121	C	T	38282121	3	4	84	1	0	0	0	0	1	0	0	0	5863	565	20	4	1914	4	FGFR1	8	38282121	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	458588	38282121	108081901	625	56168											
TACC1	6867	broad.mit.edu	37	chr8	38677178	38677178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagaatttcagagaagaacCtgaacatgattttagcaaaa	7	6	1	5			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:38677178C>A	uc010lwp.2	+	3	795	c.416C>A	c.(415-417)CCT>CAT	p.P139H	TACC1_uc011lby.1_Translation_Start_Site|TACC1_uc003xma.2_Intron|TACC1_uc003xlz.2_Translation_Start_Site|TACC1_uc003xmc.3_Translation_Start_Site|TACC1_uc011lbz.1_Missense_Mutation_p.P155H|TACC1_uc003xmb.3_Missense_Mutation_p.P94H|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.3_Intron|TACC1_uc011lca.1_Missense_Mutation_p.P139H|TACC1_uc011lcb.1_Translation_Start_Site|TACC1_uc011lcc.1_Translation_Start_Site|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Translation_Start_Site|TACC1_uc010lwq.2_Translation_Start_Site	NM_006283	NP_006274	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing	139					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			ovary(1)	1		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			AGAGAAGAACCTGAACATGAT	0.408													A	38677178	C	A	38677178	3	1	84	1	0	0	0	0	1	0	0	0	15498	681	24	5	426	5	TACC1	8	38677178	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	395057	38677178	107686844	626	56169											
ADAM9	8754	broad.mit.edu	37	chr8	38913110	38913110	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactagttccttccaggaggTactttatgccgaggaaaaac	9	10	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:38913110T>C	uc003xmr.2	+	14	1488	c.1410T>C	c.(1408-1410)GGT>GGC	p.G470G	ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xms.2_RNA	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9 isoform 1	470	Extracellular (Potential).|Disintegrin.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TTCCAGGAGGTACTTTATGCC	0.363													C	38913110	T	C	38913110	2	2	84	1	0	0	0	0	0	0	0	1	253	1625	57	3		3	ADAM9	8	38913110	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	235932	38913110	107450912	627	56170											
ST18	9705	broad.mit.edu	37	chr8	53025828	53025828	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcattccggggaatagtccCgttccagattgctgtacata	10	10	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:53025828C>A	uc003xqz.2	-	21	3230	c.3074G>T	c.(3073-3075)CGG>CTG	p.R1025L	ST18_uc011ldq.1_Missense_Mutation_p.R672L|ST18_uc011ldr.1_Missense_Mutation_p.R990L|ST18_uc011lds.1_Missense_Mutation_p.R930L|ST18_uc003xra.2_Missense_Mutation_p.R1025L	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	1025						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGAATAGTCCCGTTCCAGATT	0.443													A	53025828	C	A	53025828	3	1	84	1	0	0	0	0	1	0	0	0	15211	652	23	5	73	5	ST18	8	53025828	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	14112718	53025828	93338194	628	56171											
RB1CC1	9821	broad.mit.edu	37	chr8	53568877	53568877	+	Frame_Shift_Del	DEL	T	T	-													caattatttgttcttttaggTttttttctatttcaaatgct					rs138517468		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:53568876_53568876GT>G	uc003xre.4	-	14	4071	c.3513_3513AC>C	c.(3511-3513)aacfs	p.N1171fs	RB1CC1_uc003xrf.4_Frame_Shift_Del_p.N1171fs	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	1171					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding	p.N1171fs*8(2)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GTTCTTTTAGGTTTTTTTCTA	0.289													-	53568877	T	-	53568877	7	5	84	1	0	1	0	1	0	0	0	0	13099	1725	60	0	1312	0	RB1CC1	8	53568877	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	543049	53568877	92795145	629	56172											
RP1	6101	broad.mit.edu	37	chr8	55539137	55539138	+	Frame_Shift_Ins	INS	-	-	A													aaattctttagcttctttgaINSaaaaacctgattttcctgag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:55539136_55539137G>GA	uc003xsd.1	+	3	2842_2843	c.2694_2695G>GA	c.(2692-2697)ttgaaafs	p.L898fs	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	898					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAGCTTCTTTGAAAAAACCTGA	0.332													A	55539138	-	A	55539137	7	5	84	1	0	1	1	0	0	0	0	0	13532	247	9	0	2705	0	RP1	8	55539137	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	1970260	55539137	90824885	630	56173											
TGS1	96764	broad.mit.edu	37	chr8	56725669	56725669	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccaagaaatgctgatAttgaccaggtaagccattac	7	9	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:56725669A>G	uc003xsj.3	+	12	2818	c.2431A>G	c.(2431-2433)ATT>GTT	p.I811V	TGS1_uc010lyh.2_Missense_Mutation_p.I637M	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase homolog	811	Sufficient for catalytic activity.				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			ovary(1)|lung(1)|breast(1)	3		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			AAATGCTGATATTGACCAGGT	0.333													G	56725669	A	G	56725669	3	3	84	1	0	0	0	0	1	0	0	0	15834	449	16	3	2477	3	TGS1	8	56725669	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1186532	56725669	89638353	631	56174											
MOS	4342	broad.mit.edu	37	chr8	57026167	57026167	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggaccctgcgggcgtgcgCgtgctggcagccaccacgcg	16	15	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:57026167C>T	uc011leb.1	-	1	375	c.375G>A	c.(373-375)ACG>ACA	p.T125T		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	125	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			CGGGCGTGCGCGTGCTGGCAG	0.612													T	57026167	C	T	57026167	2	4	84	1	0	0	0	0	0	0	0	1	9712	755	27	1		1	MOS	8	57026167	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	300498	57026167	89337855	632	56175											
MOS	4342	broad.mit.edu	37	chr8	57026186	57026186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgctggcagccaccacgCgcacgatgttatcgtggcgc	14	14	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:57026186C>T	uc011leb.1	-	1	356	c.356G>A	c.(355-357)CGC>CAC	p.R119H		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	119	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			AGCCACCACGCGCACGATGTT	0.557													T	57026186	C	T	57026186	3	4	84	1	0	0	0	0	1	0	0	0	9712	768	27	1	687	1	MOS	8	57026186	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	19	57026186	89337836	633	56176											
CYP7A1	1581	broad.mit.edu	37	chr8	59409279	59409279	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaggtggacaaagtgtcAttgagaaacatgcgcaggct	12	7	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:59409279A>G	uc003xtm.3	-	3	855	c.792T>C	c.(790-792)AAT>AAC	p.N264N		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	264					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ACAAAGTGTCATTGAGAAACA	0.522									Neonatal_Giant_Cell_Hepatitis				G	59409279	A	G	59409279	2	3	84	1	0	0	0	0	0	0	0	1	4196	214	8	3		3	CYP7A1	8	59409279	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2383093	59409279	86954743	634	56177											
NKAIN3	286183	broad.mit.edu	37	chr8	63831057	63831059	+	In_Frame_Del	DEL	GAA	GAA	-													atgtgatcagtatttccatgGaagaagaagacacatgtaag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:63831056_63831058GGAA>G	uc010lyq.1	+	4	648_650	c.516_518GGAA>G	c.(514-519)atggaa>atGa	p.E175del		NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 3 (NKAIN3), mRNA.	175						integral to membrane|plasma membrane		p.E174V(1)		kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				GTATTTCCATGGAAGAAGAAGAC	0.374													-	63831059	GAA	-	63831057	7	5	84	1	0	1	0	1	0	0	0	0	10437	1175	41	0	535	0	NKAIN3	8	63831057	In_Frame_Del	DEL	GAA	TCGA-BR-8372-01A-11D-2340-08	4421778	63831057	82532965	635	56178											
MTFR1	9650	broad.mit.edu	37	chr8	66621267	66621267	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggctttaattgaaaatgtAtcagactcctaatagacaat	6	6	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:66621267A>G	uc003xvm.2	+	8	1202	c.990A>G	c.(988-990)GTA>GTG	p.V330V	MTFR1_uc003xvn.2_Silent_p.V297V|MTFR1_uc003xvo.1_Intron	NM_014637	NP_055452	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1 isoform 1	330						mitochondrion|plasma membrane				pancreas(1)	1			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TTGAAAATGTATCAGACTCCT	0.368													G	66621267	A	G	66621267	2	3	84	1	0	0	0	0	0	0	0	1	9925	436	16	3		3	MTFR1	8	66621267	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2790210	66621267	79742755	636	56179											
SGK3	23678	broad.mit.edu	37	chr8	67716612	67716612	+	Splice_Site	DEL	A	A	-													tatttttaaaaattttagttAaaaaaacagtttcctgctat							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:67716611_67716611TA>T	uc003xwp.3	+	6	812	c.181_splice	c.e6-1	p.L61_splice	SGK3_uc003xwr.3_Splice_Site_p.L61_splice|SGK3_uc003xwt.3_Splice_Site_p.L61_splice|SGK3_uc003xwu.3_Splice_Site_p.L61_splice	NM_001204173	NP_001191102	Q96BR1	SGK3_HUMAN	Homo sapiens C8orf44-SGK3 readthrough (C8orf44-SGK3), mRNA.	61	PX.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			aaattttagttaaaaaaaCAG	0.299													-	67716612	A	-	67716612	8	5	84	1	0	1	0	1	0	0	1	0	14212	359	13	0	193	0	SGK3	8	67716612	Splice_Site	DEL	A	TCGA-BR-8372-01A-11D-2340-08	1095345	67716612	78647410	637	56180											
ARFGEF1	10565	broad.mit.edu	37	chr8	68128856	68128857	+	Frame_Shift_Ins	INS	-	-	G													acttacaggagatggaggtgINSggggggcagtttctccagaa					rs142098461		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:68128855_68128856T>TG	uc003xxo.2	-	32	5045_5046	c.4655_4656A>CA	c.(4654-4656)ccafs	p.P1552fs	ARFGEF1_uc003xxl.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_uc003xxn.2_Frame_Shift_Ins_p.P535fs	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421													G	68128857	-	G	68128856	7	5	84	1	0	1	1	0	0	0	0	0	852	1348	47	0	922	0	ARFGEF1	8	68128856	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	412244	68128856	78235166	638	56181											
CA2	760	broad.mit.edu	37	chr8	86377546	86377546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccattgccaagggagagcGccagtcccctgttgacatcg	11	15	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:86377546G>A	uc003ydk.2	+	2	260	c.80G>A	c.(79-81)CGC>CAC	p.R27H		NM_000067	NP_000058	P00918	CAH2_HUMAN	carbonic anhydrase II	27					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(1)	1					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	AAGGGAGAGCGCCAGTCCCCT	0.542													A	86377546	G	A	86377546	3	1	84	1	0	0	0	0	1	0	0	0	2516	1087	38	1	86	1	CA2	8	86377546	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	18248690	86377546	59986476	639	56182											
CPNE3	8895	broad.mit.edu	37	chr8	87543456	87543456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggaaaagggagcattaCggtaaaaataagatatttgt	11	3	0	1	rs76328401	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:87543456C>T	uc003ydv.2	+	5	548	c.386C>T	c.(385-387)ACG>ATG	p.T129M		NM_003909	NP_003900	O75131	CPNE3_HUMAN	copine III	129	C2 2.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			ovary(1)|skin(1)	2						GGGAGCATTACGGTAAAAATA	0.388													T	87543456	C	T	87543456	3	4	84	1	0	0	0	0	1	0	0	0	3813	550	19	1	396	1	CPNE3	8	87543456	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1165910	87543456	58820566	640	56183											
FAM92A1	137392	broad.mit.edu	37	chr8	94713595	94713595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtgaatgaaattaacgCgtatgctgctacagagaccc	10	10	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:94713595C>T	uc010maq.2	+	2	273	c.170C>T	c.(169-171)GCG>GTG	p.A57V	FAM92A1_uc003yfu.1_RNA|FAM92A1_uc003yfv.3_RNA	NM_145269	NP_660312	A1XBS5	F92A1_HUMAN	hypothetical protein LOC137392	57											0	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GAAATTAACGCGTATGCTGCT	0.478													T	94713595	C	T	94713595	3	4	84	1	0	0	0	0	1	0	0	0	5652	768	27	1	176	1	FAM92A1	8	94713595	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	7170139	94713595	51650427	641	56184											
RBM12B	389677	broad.mit.edu	37	chr8	94747361	94747361	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaagtaaatgtcatcctcAgcaagaagaaagtctgcaaa	8	8	3	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:94747361A>G	uc003yfz.2	-	3	1471	c.1278T>C	c.(1276-1278)GCT>GCC	p.A426A		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	426	RRM 3.						nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGTCATCCTCAGCAAGAAGAA	0.373													G	94747361	A	G	94747361	2	3	84	1	0	0	0	0	0	0	0	1	13114	175	7	3		3	RBM12B	8	94747361	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	33766	94747361	51616661	642	56185											
RAD54B	25788	broad.mit.edu	37	chr8	95411754	95411754	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attagaagatcaaattttatAttcttaatttgatccaggga	6	4	2	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:95411754A>G	uc003ygk.2	-	8	1364	c.1266T>C	c.(1264-1266)AAT>AAC	p.N422N	RAD54B_uc010may.1_Silent_p.N229N|RAD54B_uc003ygl.1_RNA	NM_012415	NP_036547	O95073	FSBP_HUMAN	RAD54 homolog B	Error:Variant_position_missing_in_O95073_after_alignment					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			kidney(2)|lung(1)|skin(1)	4	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CAAATTTTATATTCTTAATTT	0.348								Direct_reversal_of_damage|Homologous_recombination					G	95411754	A	G	95411754	2	3	84	1	0	0	0	0	0	0	0	1	12992	446	16	3		3	RAD54B	8	95411754	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	664393	95411754	50952268	643	56186											
INTS8	55656	broad.mit.edu	37	chr8	95877854	95877854	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtccagtcagcacaaaCgaggaaatgatggcagagtt	13	7	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:95877854C>T	uc003yhb.2	+	17	2323	c.2197C>T	c.(2197-2199)CGA>TGA	p.R733*	INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Nonsense_Mutation_p.R560*	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	733					snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					TCAGCACAAACGAGGAAATGA	0.403													T	95877854	C	T	95877854	4	4	84	1	0	0	0	0	0	1	0	0	7784	528	19	1	2263	1	INTS8	8	95877854	Nonsense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	466100	95877854	50486168	644	56187											
GDF6	392255	broad.mit.edu	37	chr8	97156989	97156989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccaggtgcgagcgcagCgggaagtcgcatacaccctc	14	14	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:97156989C>T	uc003yhp.2	-	2	1270	c.1170G>A	c.(1168-1170)CCG>CCA	p.P390P		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	390					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					GCGAGCGCAGCGGGAAGTCGC	0.647													T	97156989	C	T	97156989	2	4	84	1	0	0	0	0	0	0	0	1	6317	755	27	1		1	GDF6	8	97156989	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1279135	97156989	49207033	645	56188											
POP1	10940	broad.mit.edu	37	chr8	99146847	99146847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgggtgacccttctgagaGcaggcagctgtggatctggc	15	12	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:99146847G>A	uc003yij.3	+	7	1071	c.971G>A	c.(970-972)AGC>AAC	p.S324N	POP1_uc011lgv.1_Missense_Mutation_p.S324N|POP1_uc003yik.2_Missense_Mutation_p.S324N	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	324					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CCTTCTGAGAGCAGGCAGCTG	0.473													A	99146847	G	A	99146847	3	1	84	1	0	0	0	0	1	0	0	0	12251	971	34	2	993	2	POP1	8	99146847	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1989858	99146847	47217175	646	56189											
POP1	10940	broad.mit.edu	37	chr8	99158813	99158813	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagataatgagaaagttagaCagctgcttctggagggtgtg	14	4	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:99158813C>T	uc003yij.3	+	12	1712	c.1612C>T	c.(1612-1614)CAG>TAG	p.Q538*	POP1_uc011lgv.1_Nonsense_Mutation_p.Q538*|POP1_uc003yik.2_Nonsense_Mutation_p.Q538*	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	538					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GAAAGTTAGACAGCTGCTTCT	0.413													T	99158813	C	T	99158813	4	4	84	1	0	0	0	0	0	1	0	0	12251	479	17	4	1654	4	POP1	8	99158813	Nonsense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	11966	99158813	47205209	647	56190											
STK3	6788	broad.mit.edu	37	chr8	99761554	99761554	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagagccagcgccacagtActccataacaatccagaggt	9	13	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:99761554A>G	uc003yip.2	-	4	442	c.301T>C	c.(301-303)TAC>CAC	p.Y101H	STK3_uc003yio.2_Missense_Mutation_p.Y129H|STK3_uc010mbm.1_Missense_Mutation_p.Y101H	NM_006281	NP_006272	Q13188	STK3_HUMAN	serine/threonine kinase 3	101	Protein kinase.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		GCGCCACAGTACTCCATAACA	0.299													G	99761554	A	G	99761554	3	3	84	1	0	0	0	0	1	0	0	0	15294	391	14	3	1206	3	STK3	8	99761554	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	602741	99761554	46602468	648	56191											
RGS22	26166	broad.mit.edu	37	chr8	101084439	101084439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttttgatccacttaataCcttcttcacgactgagacac	4	12	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:101084439C>T	uc003yjb.1	-	5	554	c.359G>A	c.(358-360)GGT>GAT	p.G120D	RGS22_uc003yja.1_Intron|RGS22_uc003yjc.1_Missense_Mutation_p.G120D|RGS22_uc011lgz.1_5'Flank|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	120					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CCACTTAATACCTTCTTCACG	0.323													T	101084439	C	T	101084439	3	4	84	1	0	0	0	0	1	0	0	0	13305	507	18	4	3527	4	RGS22	8	101084439	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1322885	101084439	45279583	649	56192											
UBR5	51366	broad.mit.edu	37	chr8	103274272	103274272	+	Frame_Shift_Del	DEL	A	A	-													ctctcatacattacaggatcAaaaaaagcaaaatcatgcca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:103274271_103274271CA>C	uc003ykr.2	-	54	8169	c.7714_7714TG>G	c.(7714-7716)gatfs	p.D2572fs	UBR5_uc003yks.2_Frame_Shift_Del_p.D2571fs|UBR5_uc003ykq.3_Frame_Shift_Del_p.D83fs	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2572	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATTACAGGATCAAAAAAAGCA	0.338													-	103274272	A	-	103274272	7	5	84	1	0	1	0	1	0	0	0	0	16902	127	5	0	706	0	UBR5	8	103274272	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	2189833	103274272	43089750	650	56193											
TM7SF4	81501	broad.mit.edu	37	chr8	105361304	105361304	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaccctggcagtctctcTtttcagtcccagccatgtcc	7	17	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:105361304T>C	uc003ylx.1	+	2	573	c.524T>C	c.(523-525)CTT>CCT	p.L175P		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	175					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCAGTCTCTCTTTTCAGTCCC	0.473													C	105361304	T	C	105361304	3	2	84	1	0	0	0	0	1	0	0	0	15973	1609	56	3	526	3	TM7SF4	8	105361304	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	2087032	105361304	41002718	651	56194											
PKHD1L1	93035	broad.mit.edu	37	chr8	110499026	110499026	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgtactggttggctcattcActgaaaatatgatgacattt	9	7	2	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:110499026A>G	uc003yne.2	+	59	9960	c.9856A>G	c.(9856-9858)ACT>GCT	p.T3286A		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3286	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGCTCATTCACTGAAAATAT	0.368										HNSCC(38;0.096)			G	110499026	A	G	110499026	3	3	84	1	0	0	0	0	1	0	0	0	11972	159	6	3	10090	3	PKHD1L1	8	110499026	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	5137722	110499026	35864996	652	56195											
TRPS1	7227	broad.mit.edu	37	chr8	116426822	116426822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggaagtccaaaaagtgggTactggtacttttcaataggg	13	5	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:116426822T>C	uc003ynz.2	-	6	3734	c.3275A>G	c.(3274-3276)TAC>TGC	p.Y1092C	TRPS1_uc011lhy.1_Missense_Mutation_p.Y1096C|TRPS1_uc003yny.2_Missense_Mutation_p.Y1105C|TRPS1_uc010mcy.2_Missense_Mutation_p.Y1092C	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1092	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AAAAAGTGGGTACTGGTACTT	0.453									Langer-Giedion_syndrome				C	116426822	T	C	116426822	3	2	84	1	0	0	0	0	1	0	0	0	16590	1638	57	3	574	3	TRPS1	8	116426822	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	5927796	116426822	29937200	653	56196											
TAF2	6873	broad.mit.edu	37	chr8	120800681	120800681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgcactgtcactttaaGtggtcccttttaaaaaaaaa	5	10	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:120800681G>A	uc003you.2	-	14	1960	c.1690C>T	c.(1690-1692)CTT>TTT	p.L564F		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	564					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTCACTTTAAGTGGTCCCTTT	0.323													A	120800681	G	A	120800681	3	1	84	1	0	0	0	0	1	0	0	0	15521	1029	36	4	1961	4	TAF2	8	120800681	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	4373859	120800681	25563341	654	56197											
WDYHV1	55093	broad.mit.edu	37	chr8	124449570	124449570	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatatccctgcattgagacTggaggtgagccaagatgcct	11	11	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:124449570T>C	uc003yqn.1	+	5	629	c.504T>C	c.(502-504)ACT>ACC	p.T168T	WDYHV1_uc011lij.1_Silent_p.T108T|WDYHV1_uc003yqo.1_RNA	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	168					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			ovary(1)|skin(1)	2						GCATTGAGACTGGAGGTGAGC	0.463													C	124449570	T	C	124449570	2	2	84	1	0	0	0	0	0	0	0	1	17340	1567	55	3		3	WDYHV1	8	124449570	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	3648889	124449570	21914452	655	56198											
FER1L6	654463	broad.mit.edu	37	chr8	124989707	124989707	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatcctgtgtggcatgaacaGgtgatcttcaaggaaatgtt	12	6	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:124989707G>T	uc003yqw.2	+	10	1127	c.921G>T	c.(919-921)CAG>CAT	p.Q307H		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	307	C2 2.|Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGCATGAACAGGTGATCTTCA	0.512													T	124989707	G	T	124989707	3	4	84	1	0	0	0	0	1	0	0	0	5815	991	35	5	955	5	FER1L6	8	124989707	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	540137	124989707	21374315	656	56199											
MTSS1	9788	broad.mit.edu	37	chr8	125565673	125565673	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatcacgggtgtcttgatggGgatgggaccagctccaatgg	16	8	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:125565673G>T	uc003yrk.2	-	14	2362	c.1828C>A	c.(1828-1830)CCC>ACC	p.P610T	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.P259T|MTSS1_uc011lin.1_Missense_Mutation_p.P384T|MTSS1_uc011lio.1_Missense_Mutation_p.P500T|MTSS1_uc003yri.2_Missense_Mutation_p.P328T|MTSS1_uc003yrj.2_Missense_Mutation_p.P585T|MTSS1_uc003yrl.2_Missense_Mutation_p.P614T	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	610	Pro-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GTCTTGATGGGGATGGGACCA	0.637													T	125565673	G	T	125565673	3	4	84	1	0	0	0	0	1	0	0	0	9962	1232	43	5	443	5	MTSS1	8	125565673	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	575966	125565673	20798349	657	56200											
ZNF572	137209	broad.mit.edu	37	chr8	125987893	125987893	+	Frame_Shift_Del	DEL	A	A	-													gatcattgtgatggagcaagAaaaaaaactgttggtctcag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:125987892_125987892GA>G	uc003yrr.3	+	1	165	c.10_10GA>G	c.(10-12)gaafs	p.E4fs		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	Homo sapiens zinc finger protein 572 (ZNF572), mRNA.	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E4Q(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GATGGAGCAAGAAAAAAAACT	0.398										HNSCC(60;0.17)			-	125987893	A	-	125987893	7	5	84	1	0	1	0	1	0	0	0	0	18001	246	9	0	13	0	ZNF572	8	125987893	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	422220	125987893	20376129	658	56201											
ADCY8	114	broad.mit.edu	37	chr8	132051861	132051861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgctgtactgcaggtacGtgtgggaggtggtgtccttc	16	10	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:132051861G>A	uc003ytd.3	-	1	975	c.719C>T	c.(718-720)ACG>ATG	p.T240M	ADCY8_uc010mds.2_Missense_Mutation_p.T240M	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	240					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTGCAGGTACGTGTGGGAGGT	0.647										HNSCC(32;0.087)			A	132051861	G	A	132051861	3	1	84	1	0	0	0	0	1	0	0	0	300	1145	40	1	3108	1	ADCY8	8	132051861	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	6063968	132051861	14312161	659	56202											
KCNQ3	3786	broad.mit.edu	37	chr8	133152330	133152330	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgggggcattacctgacggCtcggatggcggccttcaggg	18	10	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:133152330C>A	uc003ytj.2	-	11	1786	c.1561G>T	c.(1561-1563)GCC>TCC	p.A521S	KCNQ3_uc010mdt.2_Missense_Mutation_p.A521S	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	521					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TACCTGACGGCTCGGATGGCG	0.597													A	133152330	C	A	133152330	3	1	84	1	0	0	0	0	1	0	0	0	8084	797	28	5	1077	5	KCNQ3	8	133152330	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1100469	133152330	13211692	660	56203											
SLC45A4	57210	broad.mit.edu	37	chr8	142225974	142225974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagacgttgggaaacatggCcatcacggctgtgccgacag	14	10	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:142225974C>T	uc003ywd.1	-	6	1980	c.1672G>A	c.(1672-1674)GCC>ACC	p.A558T	SLC45A4_uc003ywc.1_Missense_Mutation_p.A558T|SLC45A4_uc010meq.1_Missense_Mutation_p.A556T	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	609	Helical; (Potential).				transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGAAACATGGCCATCACGGCT	0.587													T	142225974	C	T	142225974	3	4	84	1	0	0	0	0	1	0	0	0	14643	739	26	2	736	2	SLC45A4	8	142225974	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	9073644	142225974	4138048	661	56204											
ARC	23237	broad.mit.edu	37	chr8	143695260	143695260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggcggtcggcccagcGctccaggcggtagaacacct	13	16	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:143695260G>A	uc003ywn.1	-	1	574	c.373C>T	c.(373-375)CGC>TGC	p.R125C		NM_015193	NP_056008	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated	125					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)	1	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TCGGCCCAGCGCTCCAGGCGG	0.701													A	143695260	G	A	143695260	3	1	84	1	0	0	0	0	1	0	0	0	841	1087	38	1	821	1	ARC	8	143695260	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1469286	143695260	2668762	662	56205											
EPPK1	83481	broad.mit.edu	37	chr8	144943163	144943163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcggagtcgcacacgcagCgctccctgagctgctggtag	13	14	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:144943163C>T	uc003zaa.1	-	1	4272	c.4259G>A	c.(4258-4260)CGC>CAC	p.R1420H		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1420	Plectin 25.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCACACGCAGCGCTCCCTGAG	0.607													T	144943163	C	T	144943163	3	4	84	1	0	0	0	0	1	0	0	0	5190	768	27	1	3007	1	EPPK1	8	144943163	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1247903	144943163	1420859	663	56206											
PLEC	5339	broad.mit.edu	37	chr8	145004449	145004449	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaccagctggcactcgtcAcccttgtgcacagtcacctg	8	18	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:145004449A>G	uc003zaf.1	-	21	3056	c.2886T>C	c.(2884-2886)GGT>GGC	p.G962G	PLEC_uc003zab.1_Silent_p.G825G|PLEC_uc003zac.1_Silent_p.G829G|PLEC_uc003zad.2_Silent_p.G825G|PLEC_uc003zae.1_Silent_p.G793G|PLEC_uc003zag.1_Silent_p.G803G|PLEC_uc003zah.2_Silent_p.G811G|PLEC_uc003zaj.2_Silent_p.G852G	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	962	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GGCACTCGTCACCCTTGTGCA	0.711													G	145004449	A	G	145004449	2	3	84	1	0	0	0	0	0	0	0	1	12052	146	6	3		3	PLEC	8	145004449	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	61286	145004449	1359573	664	56207											
OPLAH	26873	broad.mit.edu	37	chr8	145109542	145109543	+	Frame_Shift_Ins	INS	-	-	GG													tgttgcagcatggtggagtgINSggggggcatggagcctggtg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:145109541_145109542T>TGG	uc003zar.3	-	18	2690_2691	c.2608_2609A>CCA	c.(2608-2610)cacfs	p.H870fs	OPLAH_uc003zas.1_Frame_Shift_Ins_p.P144fs	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	870							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CATGGTGGAGTGGGGGGGCATG	0.639													GG	145109543	-	GG	145109542	7	5	84	1	0	1	1	0	0	0	0	0	10876	1348	47	0	1296	0	OPLAH	8	145109542	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	105093	145109542	1254480	665	56208											
CPSF1	29894	broad.mit.edu	37	chr8	145624857	145624857	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctgaccagccggccgTcgcatccactcgcttcttct	7	19	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:145624857T>C	uc003zcj.2	-	13	1354	c.1279A>G	c.(1279-1281)ACG>GCG	p.T427A		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	427					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGGCCGTCGCATCCACT	0.672													C	145624857	T	C	145624857	3	2	84	1	0	0	0	0	1	0	0	0	3824	1667	58	3	3156	3	CPSF1	8	145624857	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	515315	145624857	739165	666	56209											
SLC39A4	55630	broad.mit.edu	37	chr8	145640211	145640211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggctcagttgggcccaggCctccggggtcaccccagcct	14	16	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:145640211C>T	uc003zcq.2	-	5	974	c.874G>A	c.(874-876)GCC>ACC	p.A292T	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.2_5'Flank|SLC39A4_uc003zco.2_Missense_Mutation_p.A16T|SLC39A4_uc003zcp.2_Missense_Mutation_p.A267T	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	292	Extracellular (Potential).					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TGGGCCCAGGCCTCCGGGGTC	0.677													T	145640211	C	T	145640211	3	4	84	1	0	0	0	0	1	0	0	0	14620	739	26	2	1101	2	SLC39A4	8	145640211	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	15354	145640211	723811	667	56210											
PPP1R16A	84988	broad.mit.edu	37	chr8	145722764	145722764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggcagccagccaagggCtcctgaagcaggtcctcttc	13	13	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:145722764C>T	uc003zdd.2	+	2	1100	c.187C>T	c.(187-189)CTC>TTC	p.L63F	uc003zde.1_Missense_Mutation_p.S117N|PPP1R16A_uc003zdf.2_Missense_Mutation_p.L63F	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	63				Missing (in Ref. 1; BAC03452).		plasma membrane	protein binding				0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGCCAAGGGCTCCTGAAGCA	0.652													T	145722764	C	T	145722764	3	4	84	1	0	0	0	0	1	0	0	0	12365	797	28	2	189	2	PPP1R16A	8	145722764	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	82553	145722764	641258	668	56211											
DMRT3	58524	broad.mit.edu	37	chr9	990229	990229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaaaacggaggcaaccccGagagccgccctgacagcccc	11	16	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:990229G>A	uc003zgw.1	+	2	681	c.643G>A	c.(643-645)GAG>AAG	p.E215K		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	215					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGGCAACCCCGAGAGCCGCCC	0.587													A	990229	G	A	990229	3	1	84	1	0	0	0	0	1	0	0	0	4587	1059	37	1	649	1	DMRT3	9	990229	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08		990229	140223202	669	56212											
FREM1	158326	broad.mit.edu	37	chr9	14819329	14819329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgtgcagaggcaattcccGcagggagaggtcaatattgt	13	9	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:14819329G>A	uc003zlm.2	-	14	3039	c.2449C>T	c.(2449-2451)CGG>TGG	p.R817W	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	817	CSPG 5.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		GGCAATTCCCGCAGGGAGAGG	0.478													A	14819329	G	A	14819329	3	1	84	1	0	0	0	0	1	0	0	0	6044	1086	38	1	4236	1	FREM1	9	14819329	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	13829100	14819329	126394102	670	56213											
CNTLN	54875	broad.mit.edu	37	chr9	17394904	17394904	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgaaagtgagatctggaCgatatgattgtaagacaact	10	6	1	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:17394904C>T	uc003zmz.2	+	15	2478	c.2452C>T	c.(2452-2454)CGA>TGA	p.R818*	CNTLN_uc003zmy.2_Nonsense_Mutation_p.R818*|CNTLN_uc010mio.2_Nonsense_Mutation_p.R497*	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	818						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		GAGATCTGGACGATATGATTG	0.418													T	17394904	C	T	17394904	4	4	84	1	0	0	0	0	0	1	0	0	3639	528	19	1	2540	1	CNTLN	9	17394904	Nonsense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2575575	17394904	123818527	671	56214											
CNTLN	54875	broad.mit.edu	37	chr9	17502598	17502598	+	Frame_Shift_Del	DEL	A	A	-													agtactggaaaaaataaatgAaaaaaagaaactagttgaag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:17502598delA	uc003zmy.2	+	26	4195	c.4169delA	c.(4168-4170)GAAfs	p.E1390fs	CNTLN_uc010mio.2_3'UTR	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	Error:Variant_position_missing_in_Q9NXG0_after_alignment						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		AAAATAAATGAAAAAAAGAAA	0.259													-	17502598	A	-	17502598	7	5	84	1	0	1	0	1	0	0	0	0	3639	246	9	0	4301	0	CNTLN	9	17502598	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	107694	17502598	123710833	672	56215											
C9orf82	79886	broad.mit.edu	37	chr9	26842399	26842399	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgtgcagaaggttgaAcatcttctggtggaggaaca	14	6	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:26842399A>C	uc003zqc.2	-	6	998	c.986T>G	c.(985-987)GTT>GGT	p.V329G	C9orf82_uc003zqb.2_Missense_Mutation_p.V184G	NM_024828	NP_079104	Q9H8G2	CI082_HUMAN	hypothetical protein LOC79886	329											0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(42;1.39e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		AGAAGGTTGAACATCTTCTGG	0.473													C	26842399	A	C	26842399	3	2	84	1	0	0	0	0	1	0	0	0	2499	43	2	5	103	5	C9orf82	9	26842399	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	9339801	26842399	114371032	673	56216											
TEK	7010	broad.mit.edu	37	chr9	27212816	27212816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccattgccaatagcaccgCgtccacactgtcctcccagc	7	18	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:27212816C>T	uc003zqi.3	+	17	3240	c.2798C>T	c.(2797-2799)GCG>GTG	p.A933V	TEK_uc011lno.1_Missense_Mutation_p.A890V|TEK_uc011lnp.1_Missense_Mutation_p.A785V	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	933	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AATAGCACCGCGTCCACACTG	0.592													T	27212816	C	T	27212816	3	4	84	1	0	0	0	0	1	0	0	0	15748	768	27	1	2864	1	TEK	9	27212816	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	370417	27212816	114000615	674	56217											
DDX58	23586	broad.mit.edu	37	chr9	32481366	32481366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagtgtataaaaacaggGctttacaaatcctgctctct	8	8	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:32481366G>A	uc003zra.2	-	11	1768	c.1610C>T	c.(1609-1611)GCC>GTC	p.A537V	DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Missense_Mutation_p.A492V|DDX58_uc011lnr.1_Missense_Mutation_p.A334V|DDX58_uc010mji.2_Missense_Mutation_p.A466V	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	537					detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TAAAAACAGGGCTTTACAAAT	0.433													A	32481366	G	A	32481366	3	1	84	1	0	0	0	0	1	0	0	0	4375	1203	42	2	1199	2	DDX58	9	32481366	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	5268550	32481366	108732065	675	56218											
VCP	7415	broad.mit.edu	37	chr9	35062113	35062113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacaactgtgatacaatgCgccgctccacctcgccatga	7	15	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:35062113C>T	uc003zvy.2	-	9	1357	c.968G>A	c.(967-969)CGC>CAC	p.R323H	VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_Missense_Mutation_p.R278H	NM_007126	NP_009057	P55072	TERA_HUMAN	valosin-containing protein	323					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			upper_aerodigestive_tract(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGATACAATGCGCCGCTCCAC	0.537													T	35062113	C	T	35062113	3	4	84	1	0	0	0	0	1	0	0	0	17137	768	27	1	1488	1	VCP	9	35062113	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2580747	35062113	106151318	676	56219											
FAM166B	730112	broad.mit.edu	37	chr9	35563010	35563010	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgcaagtgagtaaagtcActcagagcctcggcccagac	10	12	3	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:35563010A>G	uc010mkr.2	-	3	425	c.354T>C	c.(352-354)AGT>AGC	p.S118S	FAM166B_uc011lov.1_Silent_p.S118S|FAM166B_uc011low.1_Silent_p.S118S|FAM166B_uc003zwy.2_Silent_p.S118S	NM_001164310	NP_001157782	A8MTA8	F166B_HUMAN	hypothetical protein LOC730112 isoform 1	118											0						GAGTAAAGTCACTCAGAGCCT	0.552													G	35563010	A	G	35563010	2	3	84	1	0	0	0	0	0	0	0	1	5482	156	6	3		3	FAM166B	9	35563010	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	500897	35563010	105650421	677	56220											
ZBTB5	9925	broad.mit.edu	37	chr9	37442081	37442081	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctggctggaattgagggcTgagctcacgatgcttagtcc	13	9	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:37442081T>C	uc003zzx.2	-	2	668	c.468A>G	c.(466-468)TCA>TCG	p.S156S		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		AATTGAGGGCTGAGCTCACGA	0.627													C	37442081	T	C	37442081	2	2	84	1	0	0	0	0	0	0	0	1	17548	1567	55	3		3	ZBTB5	9	37442081	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1879071	37442081	103771350	678	56221											
FRMPD1	22844	broad.mit.edu	37	chr9	37744566	37744566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctttcctacagaccgactAcacctctcaggtctcatttc	5	15	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:37744566A>G	uc004aag.1	+	16	2581	c.2537A>G	c.(2536-2538)TAC>TGC	p.Y846C	FRMPD1_uc004aah.1_Missense_Mutation_p.Y846C	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	846						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		CAGACCGACTACACCTCTCAG	0.562													G	37744566	A	G	37744566	3	3	84	1	0	0	0	0	1	0	0	0	6057	391	14	3	2595	3	FRMPD1	9	37744566	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	302485	37744566	103468865	679	56222											
TRPM3	80036	broad.mit.edu	37	chr9	73399051	73399051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtatttatgcccaaagGccaggatgtccgatgcccgt	11	11	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:73399051G>A	uc004aid.2	-	7	1362	c.1118C>T	c.(1117-1119)GCC>GTC	p.A373V	TRPM3_uc004ahu.2_Missense_Mutation_p.A203V|TRPM3_uc004ahv.2_Missense_Mutation_p.A203V|TRPM3_uc004ahw.2_Missense_Mutation_p.A245V|TRPM3_uc004ahx.2_Missense_Mutation_p.A220V|TRPM3_uc004ahy.2_Missense_Mutation_p.A245V|TRPM3_uc004ahz.2_Missense_Mutation_p.A220V|TRPM3_uc004aia.2_Missense_Mutation_p.A220V|TRPM3_uc004aib.2_Missense_Mutation_p.A220V|TRPM3_uc004aic.2_Missense_Mutation_p.A373V|TRPM3_uc010mor.2_Missense_Mutation_p.A373V|TRPM3_uc004aie.2_Missense_Mutation_p.A220V|TRPM3_uc004aif.2_Missense_Mutation_p.A245V|TRPM3_uc004aig.2_Missense_Mutation_p.A220V	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	398	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						ATGCCCAAAGGCCAGGATGTC	0.522													A	73399051	G	A	73399051	3	1	84	1	0	0	0	0	1	0	0	0	16584	1203	42	2	4125	2	TRPM3	9	73399051	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	35654485	73399051	67814380	680	56223											
TMEM2	23670	broad.mit.edu	37	chr9	74309493	74309493	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggaattgcacagggaggtAacttttatgaggatcactag	12	6	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:74309493A>G	uc011lsa.1	-	21	4168	c.3628T>C	c.(3628-3630)TAC>CAC	p.Y1210H	TMEM2_uc011lrz.1_Missense_Mutation_p.Y203H|TMEM2_uc010mos.2_Missense_Mutation_p.Y1147H|TMEM2_uc011lsb.1_RNA|TMEM2_uc004aik.2_Missense_Mutation_p.Y44H	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	1210						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ACAGGGAGGTAACTTTTATGA	0.398													G	74309493	A	G	74309493	3	3	84	1	0	0	0	0	1	0	0	0	16118	362	13	3	539	3	TMEM2	9	74309493	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	910442	74309493	66903938	681	56224											
TMC1	117531	broad.mit.edu	37	chr9	75406888	75406888	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagactaccatcctctcatCgctttgaaatggctactggg	9	11	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:75406888C>T	uc004aiz.1	+	16	1851	c.1311C>T	c.(1309-1311)ATC>ATT	p.I437I	TMC1_uc010moz.1_Silent_p.I395I|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Silent_p.I291I|TMC1_uc010mpa.1_Silent_p.I291I	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	437	Extracellular (Potential).				sensory perception of sound	integral to membrane				ovary(1)	1						ATCCTCTCATCGCTTTGAAAT	0.393													T	75406888	C	T	75406888	2	4	84	1	0	0	0	0	0	0	0	1	15981	874	31	1		1	TMC1	9	75406888	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1097395	75406888	65806543	682	56225											
TRPM6	140803	broad.mit.edu	37	chr9	77454951	77454951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctttacctgtattgatgCcttcagttattatccacgct	7	10	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:77454951C>T	uc004ajl.1	-	5	771	c.533G>A	c.(532-534)GGC>GAC	p.G178D	TRPM6_uc004ajk.1_Missense_Mutation_p.G173D|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.G178D|TRPM6_uc010mpd.1_Missense_Mutation_p.G178D|TRPM6_uc010mpe.1_Missense_Mutation_p.G178D|TRPM6_uc004ajn.1_Missense_Mutation_p.G178D	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	178	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						TGTATTGATGCCTTCAGTTAT	0.244													T	77454951	C	T	77454951	3	4	84	1	0	0	0	0	1	0	0	0	16587	739	26	2	5675	2	TRPM6	9	77454951	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2048063	77454951	63758480	683	56226											
PCSK5	5125	broad.mit.edu	37	chr9	78506105	78506105	+	Frame_Shift_Del	DEL	G	G	-													aggcgccgggaccatgggctGggggagccgctgctgctgcc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:78506105delG	uc004ajz.2	+	1	546	c.8delG	c.(7-9)TGGfs	p.W3fs	PCSK5_uc004ajy.2_Frame_Shift_Del_p.W3fs|PCSK5_uc004aka.2_RNA	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	3					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3						ACCATGGGCTGGGGGAGCCGC	0.726													-	78506105	G	-	78506105	7	5	84	1	0	1	0	1	0	0	0	0	11603	1357	47	0	10	0	PCSK5	9	78506105	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	1051154	78506105	62707326	684	56227											
PRUNE2	158471	broad.mit.edu	37	chr9	79229502	79229502	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaactaaggcttttctttcAgcttcaagtcaatactgcaa	5	11	4	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:79229502A>G	uc010mpk.2	-	19	9375	c.9251T>C	c.(9250-9252)CTG>CCG	p.L3084P	PRUNE2_uc011lsk.1_Missense_Mutation_p.L333P|PRUNE2_uc011lsl.1_Missense_Mutation_p.L348P|PRUNE2_uc011lsm.1_Missense_Mutation_p.L320P|PRUNE2_uc004akj.3_Missense_Mutation_p.L538P	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	3084					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						CTTTTCTTTCAGCTTCAAGTC	0.388													G	79229502	A	G	79229502	3	3	84	1	0	0	0	0	1	0	0	0	12641	188	7	3	19	3	PRUNE2	9	79229502	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	723397	79229502	61983929	685	56228											
FOXB2	442425	broad.mit.edu	37	chr9	79635344	79635344	+	Silent	SNP	G	G	T													gccgccgccgctgccgccgcGgccgcggcgtccacgtcagg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:79635344G>T	uc004ako.1	+	1	774	c.774G>T	c.(772-774)GCG>GCT	p.A258A		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	258	Poly-Ala.				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						ctgccgccgcggccgcGGCGT	0.453													T	79635344	G	T	79635344	2	4	84	1	0	0	0	0	0	0	0	1	5993	1103	39	5		5	FOXB2	9	79635344	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	405842	79635344	61578087	686	56229	241	2									
FOXB2	442425	broad.mit.edu	37	chr9	79635350	79635350	+	Silent	SNP	G	G	C													gccgctgccgccgcggccgcGgcgtccacgtcaggcttcaa							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:79635350G>C	uc004ako.1	+	1	780	c.780G>C	c.(778-780)GCG>GCC	p.A260A		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	260	Poly-Ala.				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						ccgcggccgcGGCGTCCACGT	0.478													C	79635350	G	C	79635350	2	2	84	1	0	0	0	0	0	0	0	1	5993	1103	39	5		5	FOXB2	9	79635350	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	6	79635350	61578081	687	56230	241	2									
TLE1	7088	broad.mit.edu	37	chr9	84208132	84208132	+	Frame_Shift_Del	DEL	G	G	-													ccgggtccgatgagggcgtcGgggggaaaagggacaggctg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:84208131_84208131CG>C	uc004alz.3	-	14	1861	c.1420_1420CG>G	c.(1420-1422)gacfs	p.D474fs	TLE1_uc004aly.3_Frame_Shift_Del_p.D464fs|TLE1_uc011lsr.2_Frame_Shift_Del_p.D449fs|TLE1_uc004ama.1_Frame_Shift_Del_p.D463fs	NM_005077	NP_005068	Q04724	TLE1_HUMAN	Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA.	464					Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ATGAGGGCGTCGGGGGGAAAA	0.562													-	84208132	G	-	84208132	7	5	84	1	0	1	0	1	0	0	0	0	15935	1103	39	0	947	0	TLE1	9	84208132	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	4572782	84208132	57005299	688	56231											
ROR2	4920	broad.mit.edu	37	chr9	94487069	94487069	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccacgtccgagtgcggCgagcgcatgaccaggaattc	13	14	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:94487069C>T	uc004arj.1	-	9	1906	c.1707G>A	c.(1705-1707)TCG>TCA	p.S569S	ROR2_uc004ari.1_Silent_p.S429S	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	569	Cytoplasmic (Potential).|Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						CCGAGTGCGGCGAGCGCATGA	0.652													T	94487069	C	T	94487069	2	4	84	1	0	0	0	0	0	0	0	1	13527	755	27	1		1	ROR2	9	94487069	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	10278937	94487069	46726362	689	56232											
NOL8	55035	broad.mit.edu	37	chr9	95077545	95077545	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatcagcatcttcactgctActggagtgagagggagattt	12	7	3	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:95077545A>G	uc004arv.2	-	7	1699	c.1362T>C	c.(1360-1362)AGT>AGC	p.S454S	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Silent_p.S386S	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	454				S -> G (in Ref. 3; BAB14857).	DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						CTTCACTGCTACTGGAGTGAG	0.403													G	95077545	A	G	95077545	2	3	84	1	0	0	0	0	0	0	0	1	10527	388	14	3		3	NOL8	9	95077545	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	590476	95077545	46135886	690	56233											
OGN	4969	broad.mit.edu	37	chr9	95152283	95152283	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagaaagttttgaaaaagtAccatcttctatatcttctat	5	6	4	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:95152283A>G	uc004asa.2	-	5	718	c.483T>C	c.(481-483)GGT>GGC	p.G161G	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|OGN_uc004asb.2_Silent_p.G161G|OGN_uc011ltx.1_Silent_p.G179G	NM_014057	NP_054776	P20774	MIME_HUMAN	osteoglycin preproprotein	161	LRR 3.					extracellular space|proteinaceous extracellular matrix	growth factor activity				0						TTGAAAAAGTACCATCTTCTA	0.303													G	95152283	A	G	95152283	2	3	84	1	0	0	0	0	0	0	0	1	10846	378	14	3		3	OGN	9	95152283	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	74738	95152283	46061148	691	56234											
ASPN	54829	broad.mit.edu	37	chr9	95236979	95236979	+	Frame_Shift_Del	DEL	A	A	-													attggaaacagatcaaatggAaaaaaatggcttcttggctc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:95236979delA	uc004ase.1	-	2	445	c.201delT	c.(199-201)TTTfs	p.F67fs	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ASPN_uc010mqy.1_Frame_Shift_Del_p.F67fs	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN	asporin precursor	67	LRRNT.				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding				0						GATCAAATGGAAAAAAATGGC	0.294													-	95236979	A	-	95236979	7	5	84	1	0	1	0	1	0	0	0	0	1057	243	9	0	969	0	ASPN	9	95236979	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	84696	95236979	45976452	692	56235											
ZNF484	83744	broad.mit.edu	37	chr9	95618525	95618525	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcacttctctgtacaggcTtttctgagcaaggtctaatt	7	10	4	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:95618525T>C	uc004asu.1	-	3	240	c.91A>G	c.(91-93)AGC>GGC	p.S31G	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.S33G|ZNF484_uc010mrb.1_5'UTR|ZNF484_uc004asv.1_5'UTR	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTGTACAGGCTTTTCTGAGCA	0.398													C	95618525	T	C	95618525	3	2	84	1	0	0	0	0	1	0	0	0	17934	1609	56	3	2479	3	ZNF484	9	95618525	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	381546	95618525	45594906	693	56236											
ZNF367	195828	broad.mit.edu	37	chr9	99150711	99150711	+	Frame_Shift_Del	DEL	G	G	-													accagcttgcctttcaaagtGggggtgcgctgctctctcat							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:99150710_99150710TG>T	uc004awf.3	-	4	1217	c.862_862CA>A	c.(862-864)actfs	p.T288fs		NM_153695	NP_710162	Q7RTV3	ZN367_HUMAN	Homo sapiens zinc finger protein 367 (ZNF367), mRNA.	288					regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				CCTTTCAAAGTGGGGGTGCGC	0.463													-	99150711	G	-	99150711	7	5	84	1	0	1	0	1	0	0	0	0	17868	1335	47	0	195	0	ZNF367	9	99150711	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	3532186	99150711	42062720	694	56237											
CDC14B	8555	broad.mit.edu	37	chr9	99272005	99272005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtggttcttttagtaatGcctgcactgccagaaatgtt	10	8	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:99272005G>A	uc004awj.2	-	13	1862	c.1410C>T	c.(1408-1410)GGC>GGT	p.G470G	CDC14B_uc004awk.2_Intron|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Silent_p.G433G	NM_033331	NP_201588	O60729	CC14B_HUMAN	CDC14 homolog B isoform 2	470					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TTTTAGTAATGCCTGCACTGC	0.358													A	99272005	G	A	99272005	2	1	84	1	0	0	0	0	0	0	0	1	3057	1306	46	2		2	CDC14B	9	99272005	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	121294	99272005	41941426	695	56238											
COL15A1	1306	broad.mit.edu	37	chr9	101818643	101818643	+	Frame_Shift_Del	DEL	G	G	-													cctggtgatcctgggccaccGgggcccccggggccaccagg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:101818642_101818642CG>C	uc004azb.1	+	34	3499	c.3293_3293CG>C	c.(3292-3294)ccgfs	p.P1098fs		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	1098	Triple-helical region 8 (COL8).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCTGGGCCACCGGGGCCCCCG	0.627													-	101818643	G	-	101818643	7	5	84	1	0	1	0	1	0	0	0	0	3672	1103	39	0	3432	0	COL15A1	9	101818643	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	2546638	101818643	39394788	696	56239											
GRIN3A	116443	broad.mit.edu	37	chr9	104449268	104449268	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaggaagctcaagaggtccTgggtggaggggaggttagcg	20	5	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:104449268T>C	uc004bbp.1	-	2	1515	c.914A>G	c.(913-915)CAG>CGG	p.Q305R	GRIN3A_uc004bbq.1_Missense_Mutation_p.Q305R	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	305	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CAAGAGGTCCTGGGTGGAGGG	0.498													C	104449268	T	C	104449268	3	2	84	1	0	0	0	0	1	0	0	0	6783	1580	55	3	2465	3	GRIN3A	9	104449268	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	2630625	104449268	36764163	697	56240											
SMC2	10592	broad.mit.edu	37	chr9	106864838	106864838	+	Frame_Shift_Del	DEL	A	A	-													aagcaaacgcaaagagctggAaaaaaatatggttgaggtaa							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:106864837_106864837GA>G	uc004bbv.3	+	8	1291	c.1003_1003GA>G	c.(1003-1005)gaafs	p.E335fs	SMC2_uc004bbu.1_Frame_Shift_Del_p.E335fs|SMC2_uc004bbw.3_Frame_Shift_Del_p.E335fs|SMC2_uc011lvl.2_Frame_Shift_Del_p.E335fs|SMC2_uc010mtg.1_Frame_Shift_Del_p.E190fs|SMC2_uc010mth.1_Frame_Shift_Del_p.E285fs|SMC2_uc004bbx.3_Frame_Shift_Del_p.E335fs	NM_001042551	NP_006435	O95347	SMC2_HUMAN	Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.	335					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						CAAAGAGCTGGAAAAAAATAT	0.383													-	106864838	A	-	106864838	7	5	84	1	0	1	0	1	0	0	0	0	14783	246	9	0	1034	0	SMC2	9	106864838	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	2415570	106864838	34348593	698	56241											
ZNF462	58499	broad.mit.edu	37	chr9	109689899	109689899	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacggccaccattcgaagcCtctgcgaccgaaatcagaag	9	13	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:109689899C>A	uc004bcz.2	+	3	3995	c.3706C>A	c.(3706-3708)CTC>ATC	p.L1236I	ZNF462_uc010mto.2_Missense_Mutation_p.L1084I|ZNF462_uc004bda.2_Missense_Mutation_p.L1084I	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1236					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						CATTCGAAGCCTCTGCGACCG	0.537													A	109689899	C	A	109689899	3	1	84	1	0	0	0	0	1	0	0	0	17923	681	24	5	3712	5	ZNF462	9	109689899	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2825061	109689899	31523532	699	56242											
ROD1	9991	broad.mit.edu	37	chr9	114986256	114986256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaatgagcgccattttgcGatctttcctgaaaatggtat	9	7	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:114986256G>A	uc004bfw.2	-	15	1721	c.1534C>T	c.(1534-1536)CGC>TGC	p.R512C	ROD1_uc004bfv.2_Missense_Mutation_p.R518C|ROD1_uc004bfx.2_Missense_Mutation_p.R515C|ROD1_uc011lwu.1_Missense_Mutation_p.R484C|ROD1_uc004bfy.2_Missense_Mutation_p.R417C|ROD1_uc004bfz.2_Intron	NM_005156	NP_005147	O95758	ROD1_HUMAN	ROD1 regulator of differentiation 1 isoform 1	512	RRM 4.				anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding			skin(1)	1						GCCATTTTGCGATCTTTCCTG	0.403													A	114986256	G	A	114986256	3	1	84	1	0	0	0	0	1	0	0	0	13519	1058	37	1	128	1	ROD1	9	114986256	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	5296357	114986256	26227175	700	56243											
SLC46A2	57864	broad.mit.edu	37	chr9	115652551	115652551	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgttcagcgccgccgccccGtacagcacctccactggcca	9	21	1	0	rs144776162		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:115652551G>A	uc004bgk.2	-	1	643	c.411C>T	c.(409-411)TAC>TAT	p.Y137Y		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	137	Extracellular (Potential).					integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)	1						CCGCCGCCCCGTACAGCACCT	0.682													A	115652551	G	A	115652551	2	1	84	1	0	0	0	0	0	0	0	1	14645	1140	40	1		1	SLC46A2	9	115652551	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	666295	115652551	25560880	701	56244											
COL27A1	85301	broad.mit.edu	37	chr9	116999992	116999992	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcccgggccccctggaccCgaggtatgtgatgccccatt	11	15	0	1	rs142957409	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:116999992C>A	uc011lxl.1	+	19	2724	c.2724C>A	c.(2722-2724)CCC>CCA	p.P908P	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	908	Collagen-like 5.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						CCCCTGGACCCGAGGTATGTG	0.488													A	116999992	C	A	116999992	2	1	84	1	0	0	0	0	0	0	0	1	3685	639	23	5		5	COL27A1	9	116999992	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1347441	116999992	24213439	702	56245											
AKNA	80709	broad.mit.edu	37	chr9	117124104	117124104	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctgagtctgacccgggCggctcaggctcttgctgggt	16	11	3	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:117124104C>T	uc004biq.3	-	8	2139	c.2004G>A	c.(2002-2004)CCG>CCA	p.P668P	AKNA_uc004bin.3_5'Flank|AKNA_uc004bio.3_Silent_p.P128P|AKNA_uc004bip.3_Silent_p.P587P|AKNA_uc004bir.3_Silent_p.P668P|AKNA_uc004bis.3_Silent_p.P668P|AKNA_uc010mve.2_Silent_p.P549P|AKNA_uc004biu.1_Silent_p.P409P|AKNA_uc004biv.1_Silent_p.P668P	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	668					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6						CTGACCCGGGCGGCTCAGGCT	0.617													T	117124104	C	T	117124104	2	4	84	1	0	0	0	0	0	0	0	1	463	755	27	1		1	AKNA	9	117124104	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	124112	117124104	24089327	703	56246											
ASTN2	23245	broad.mit.edu	37	chr9	119188283	119188283	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatagggcactgtttccacGcggctctggatgtaggcact	13	10	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:119188283G>A	uc004bjs.1	-	23	3968	c.3867C>T	c.(3865-3867)CGC>CGT	p.R1289R	ASTN2_uc004bjr.1_Silent_p.R1285R|ASTN2_uc004bjt.1_Silent_p.R1238R|ASTN2_uc004bjp.1_Silent_p.R382R|ASTN2_uc004bjq.1_Silent_p.R341R|ASTN2_uc011lxr.1_Silent_p.R341R|ASTN2_uc011lxs.1_Silent_p.R341R|ASTN2_uc011lxt.1_Silent_p.R341R|ASTN2_uc004bjo.1_Silent_p.R70R	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	1289	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						CTGTTTCCACGCGGCTCTGGA	0.582													A	119188283	G	A	119188283	2	1	84	1	0	0	0	0	0	0	0	1	1065	1074	38	1		1	ASTN2	9	119188283	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	2064179	119188283	22025148	704	56247											
TRIM32	22954	broad.mit.edu	37	chr9	119461528	119461528	+	Frame_Shift_Del	DEL	G	G	-													tcacagttgatcgaggatcaGgggtggtcaaatacagctgc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:119461527_119461527AG>A	uc022bmo.1	+	0	1506	c.1506_1506AG>A	c.(1504-1506)tcafs	p.S502fs	ASTN2_uc022bml.1_Intron|ASTN2_uc022bmm.1_Intron|ASTN2_uc004bjt.2_Intron|TRIM32_uc004bjw.2_Frame_Shift_Del_p.S502fs|TRIM32_uc004bjx.2_Frame_Shift_Del_p.S502fs	NM_012210	NP_036342	Q13049	TRI32_HUMAN	Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA.	502					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV|response to tumor necrosis factor	nucleus	RNA binding|Tat protein binding|myosin binding|protein self-association|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						ATCGAGGATCAGGGGTGGTCA	0.522													-	119461528	G	-	119461528	7	5	84	1	0	1	0	1	0	0	0	0	16503	1000	35	0	1509	0	TRIM32	9	119461528	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	273245	119461528	21751903	705	56248											
STRBP	55342	broad.mit.edu	37	chr9	125910152	125910152	+	Splice_Site	DEL	A	A	-													gagctgaagacccagcacctAaaaaaaattatgagggattc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:125910151_125910151TA>T	uc004bns.3	-	12	1488	c.1046_splice	c.e12-1	p.G349_splice	STRBP_uc004bnt.3_Splice_Site_p.G167_splice|STRBP_uc004bnu.3_Splice_Site_p.G335_splice|STRBP_uc004bnv.3_Splice_Site_p.G349_splice	NM_018387	NP_001164608	Q96SI9	STRBP_HUMAN	Homo sapiens spermatid perinuclear RNA binding protein (STRBP), transcript variant 1, mRNA.	349					multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						ACCCAGCACCTAAAAAAAATT	0.378													-	125910152	A	-	125910152	8	5	84	1	0	1	0	1	0	0	1	0	15326	377	13	0		0	STRBP	9	125910152	Splice_Site	DEL	A	TCGA-BR-8372-01A-11D-2340-08	6448624	125910152	15303279	706	56249											
NEK6	10783	broad.mit.edu	37	chr9	127074912	127074912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggacaggaagacagtggCtctgaagaaggtgcaggtga	17	6	1	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:127074912C>T	uc004bog.2	+	3	364	c.215C>T	c.(214-216)GCT>GTT	p.A72V	NEK6_uc004bof.2_Missense_Mutation_p.A90V|NEK6_uc004boh.2_Missense_Mutation_p.A106V|NEK6_uc010mwj.2_Intron|NEK6_uc010mwk.2_Missense_Mutation_p.A72V|NEK6_uc004boi.2_Missense_Mutation_p.A72V	NM_014397	NP_055212	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6 isoform 2	72	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|kidney(1)	3						AAGACAGTGGCTCTGAAGAAG	0.607													T	127074912	C	T	127074912	3	4	84	1	0	0	0	0	1	0	0	0	10328	797	28	2	406	2	NEK6	9	127074912	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1164760	127074912	14138519	707	56250											
OLFML2A	169611	broad.mit.edu	37	chr9	127566549	127566549	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaccaccaccaccgccAccaccaccccaacccccacc	2	28	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:127566549A>G	uc004bov.2	+	6	1209	c.1096A>G	c.(1096-1098)ACC>GCC	p.T366A	OLFML2A_uc010mwr.1_Missense_Mutation_p.T330A|OLFML2A_uc004bow.2_Missense_Mutation_p.T152A	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A precursor	366	Thr-rich.										0						caccaccgccaccaccacccc	0.453													G	127566549	A	G	127566549	3	3	84	1	0	0	0	0	1	0	0	0	10857	159	6	3	1118	3	OLFML2A	9	127566549	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	491637	127566549	13646882	708	56251											
SLC2A8	29988	broad.mit.edu	37	chr9	130167812	130167812	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaactggctcatggccTttctcgtgaccaaggagttc	9	13	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:130167812T>A	uc004bqu.2	+	9	1309	c.1264T>A	c.(1264-1266)TTT>ATT	p.F422I	SLC2A8_uc010mxj.2_Intron|SLC2A8_uc004bqv.2_Missense_Mutation_p.F94I	NM_014580	NP_055395	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose	422	Helical; Name=11; (Potential).					cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						GCTCATGGCCTTTCTCGTGAC	0.592													A	130167812	T	A	130167812	3	1	84	1	0	0	0	0	1	0	0	0	14551	1609	56	5	1298	5	SLC2A8	9	130167812	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	2601263	130167812	11045619	709	56252											
C9orf117	286207	broad.mit.edu	37	chr9	130469311	130469311	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccctggttgccatcagccAtggctcccaaaaagagtgtg	11	12	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:130469311A>G	uc004brn.1	+	1	41	c.1A>G	c.(1-3)ATG>GTG	p.M1V	PTRH1_uc004brm.2_Intron|C9orf117_uc010mxl.1_RNA	NM_001012502	NP_001012520	Q5JU67	CI117_HUMAN	hypothetical protein LOC286207	1											0						GCCATCAGCCATGGCTCCCAA	0.617													G	130469311	A	G	130469311	3	3	84	1	0	0	0	0	1	0	0	0	2451	217	8	3	3	3	C9orf117	9	130469311	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	301499	130469311	10744120	710	56253											
NAIF1	203245	broad.mit.edu	37	chr9	130829063	130829063	+	Frame_Shift_Del	DEL	C	C	-													ctgccaccgcctgtcccaggCcccccagctccgtcctcctc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:130829063delC	uc004bta.2	-	1	537	c.318delG	c.(316-318)GGGfs	p.G106fs	NAIF1_uc004bsz.2_Intron|SLC25A25_uc004btb.2_5'Flank	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	106	Gly-rich.				apoptosis|induction of apoptosis	nucleus					0						CTGTCCCAGGCCCCCCAGCTC	0.701													-	130829063	C	-	130829063	7	5	84	1	0	1	0	1	0	0	0	0	10146	726	26	0	673	0	NAIF1	9	130829063	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	359752	130829063	10384368	711	56254											
LCN2	3934	broad.mit.edu	37	chr9	130913980	130913980	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagcccggcgagttcacGctgggcaacattaagagtga	13	11	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:130913980G>A	uc004bto.1	+	3	412	c.339G>A	c.(337-339)ACG>ACA	p.T113T	LCN2_uc011map.1_Silent_p.T113T	NM_005564	NP_005555	P80188	NGAL_HUMAN	lipocalin 2 precursor	113					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity				0						GCGAGTTCACGCTGGGCAACA	0.582													A	130913980	G	A	130913980	2	1	84	1	0	0	0	0	0	0	0	1	8684	1074	38	1		1	LCN2	9	130913980	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	84917	130913980	10299451	712	56255											
COQ4	51117	broad.mit.edu	37	chr9	131095136	131095136	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctcacccacaggggagatCgtggtgaaatggtttgaggc	14	10	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:131095136C>T	uc004bur.3	+	6	887	c.540C>T	c.(538-540)ATC>ATT	p.I180I	COQ4_uc004bus.2_Silent_p.I156I|COQ4_uc010mxy.2_Silent_p.I156I	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN	coenzyme Q4 homolog precursor	180					ubiquinone biosynthetic process	mitochondrial inner membrane					0						CAGGGGAGATCGTGGTGAAAT	0.542													T	131095136	C	T	131095136	2	4	84	1	0	0	0	0	0	0	0	1	3747	874	31	1		1	COQ4	9	131095136	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	181156	131095136	10118295	713	56256											
SPTAN1	6709	broad.mit.edu	37	chr9	131371511	131371511	+	Frame_Shift_Del	DEL	A	A	-													gattgaggcttggatcagtgAaaaattgcaaacagcgagtg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:131371511delA	uc004bvl.3	+	36	4819	c.4706delA	c.(4705-4707)GAAfs	p.E1569fs	SPTAN1_uc004bvm.3_Frame_Shift_Del_p.E1569fs|SPTAN1_uc004bvn.3_Frame_Shift_Del_p.E1549fs	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1569	Spectrin 17.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TGGATCAGTGAAAAATTGCAA	0.458													-	131371511	A	-	131371511	7	5	84	1	0	1	0	1	0	0	0	0	15116	246	9	0	4844	0	SPTAN1	9	131371511	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	276375	131371511	9841920	714	56257											
C9orf114	51490	broad.mit.edu	37	chr9	131586433	131586433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatacccatcttggaaggGggcctcagcaaacacagcac	10	13	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:131586433G>A	uc004bwd.2	-	10	858	c.832C>T	c.(832-834)CCC>TCC	p.P278S	C9orf114_uc004bwe.2_Missense_Mutation_p.P278S|C9orf114_uc010mym.2_RNA	NM_016390	NP_057474	Q5T280	CI114_HUMAN	hypothetical protein LOC51490	278											0						TCTTGGAAGGGGGCCTCAGCA	0.612													A	131586433	G	A	131586433	3	1	84	1	0	0	0	0	1	0	0	0	2449	1232	43	4	310	4	C9orf114	9	131586433	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	214922	131586433	9626998	715	56258											
DOLK	22845	broad.mit.edu	37	chr9	131708573	131708573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caatgaggtggaaatactttCgggcgatggtgggggcctgg	18	6	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:131708573C>T	uc004bwr.2	-	1	1440	c.1010G>A	c.(1009-1011)CGA>CAA	p.R337Q	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	dolichol kinase	337	Cytoplasmic (Potential).				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity				0						GAAATACTTTCGGGCGATGGT	0.577													T	131708573	C	T	131708573	3	4	84	1	0	0	0	0	1	0	0	0	4703	884	31	1	610	1	DOLK	9	131708573	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	122140	131708573	9504858	716	56259											
NUP214	8021	broad.mit.edu	37	chr9	134022878	134022878	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacttctttttcaagcaggAcgatctgctcagggcagttc	10	10	4	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:134022878A>G	uc004cag.2	+	14	2058	c.1947A>G	c.(1945-1947)GGA>GGG	p.G649G	NUP214_uc004cah.2_Silent_p.G639G|NUP214_uc004cai.2_Silent_p.G79G|NUP214_uc004caf.1_Silent_p.G638G|NUP214_uc010mzf.2_Intron	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	649	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTCAAGCAGGACGATCTGCTC	0.438			T	DEK|SET|ABL1	AML|T-ALL								G	134022878	A	G	134022878	2	3	84	1	0	0	0	0	0	0	0	1	10762	289	10	3		3	NUP214	9	134022878	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2314305	134022878	7190553	717	56260											
NUP214	8021	broad.mit.edu	37	chr9	134073099	134073099	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagccaccagcacttcCtcaactgccgtttttggcag	8	16	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:134073099C>A	uc004cag.2	+	29	4329	c.4218C>A	c.(4216-4218)TCC>TCA	p.S1406S	NUP214_uc004cah.2_Silent_p.S1396S|NUP214_uc004cai.2_Silent_p.S836S|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Silent_p.S232S|NUP214_uc011mcf.1_Silent_p.S183S|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	1406	Pro/Ser/Thr-rich.|11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCAGCACTTCCTCAACTGCCG	0.552			T	DEK|SET|ABL1	AML|T-ALL								A	134073099	C	A	134073099	2	1	84	1	0	0	0	0	0	0	0	1	10762	668	24	5		5	NUP214	9	134073099	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	50221	134073099	7140332	718	56261											
DDX31	64794	broad.mit.edu	37	chr9	135522411	135522411	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggacagaaatactgactggAtcatgcaaactgatatcagc	9	8	2	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:135522411A>G	uc004cbq.1	-	12	1469	c.1317T>C	c.(1315-1317)GAT>GAC	p.D439D	DDX31_uc010mzu.1_Silent_p.D439D|DDX31_uc004cbr.1_Silent_p.D439D	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	439	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TACTGACTGGATCATGCAAAC	0.493													G	135522411	A	G	135522411	2	3	84	1	0	0	0	0	0	0	0	1	4356	330	12	3		3	DDX31	9	135522411	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1449312	135522411	5691020	719	56262											
ADAMTS13	11093	broad.mit.edu	37	chr9	136320470	136320470	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgcctcggaccccaggccCaggcgcctgtgccagctgat	12	18	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:136320470C>A	uc004cdv.3	+	25	3757	c.3313C>A	c.(3313-3315)CAG>AAG	p.Q1105K	ADAMTS13_uc004cdp.3_Missense_Mutation_p.Q332K|ADAMTS13_uc004cdt.1_Missense_Mutation_p.Q1105K|ADAMTS13_uc004cdu.1_Missense_Mutation_p.Q1074K|ADAMTS13_uc004cdw.3_Missense_Mutation_p.Q1105K|ADAMTS13_uc004cdx.3_Missense_Mutation_p.Q1074K|ADAMTS13_uc004cdz.3_Missense_Mutation_p.Q775K|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.3_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1105	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)		ACCCCAGGCCCAGGCGCCTGT	0.667													A	136320470	C	A	136320470	3	1	84	1	0	0	0	0	1	0	0	0	258	595	21	5	3411	5	ADAMTS13	9	136320470	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	798059	136320470	4892961	720	56263											
BRD3	8019	broad.mit.edu	37	chr9	136918511	136918511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcttgcggccgggcttgCtggggttggagacctccggg	19	10	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:136918511C>T	uc004cew.2	-	2	277	c.89G>A	c.(88-90)AGC>AAC	p.S30N	BRD3_uc004cex.2_Missense_Mutation_p.S30N	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	30						nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GCCGGGCTTGCTGGGGTTGGA	0.677			T	NUT|C15orf55	lethal midline carcinoma of young people								T	136918511	C	T	136918511	3	4	84	1	0	0	0	0	1	0	0	0	1503	797	28	2	2135	2	BRD3	9	136918511	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	598041	136918511	4294920	721	56264											
COL5A1	1289	broad.mit.edu	37	chr9	137644457	137644457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcactgaggggaccagctgGcccgatgggtctcacaggga	17	11	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:137644457G>A	uc004cfe.2	+	14	2067	c.1685G>A	c.(1684-1686)GGC>GAC	p.G562D		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	562	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGACCAGCTGGCCCGATGGGT	0.617													A	137644457	G	A	137644457	3	1	84	1	0	0	0	0	1	0	0	0	3696	1203	42	2	1739	2	COL5A1	9	137644457	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	725946	137644457	3568974	722	56265											
KCNT1	57582	broad.mit.edu	37	chr9	138678163	138678163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacgggcggcggtgaccccGcagagcacccactgctacgg	14	16	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:138678163G>A	uc011mdq.1	+	29	3372	c.3298G>A	c.(3298-3300)GCA>ACA	p.A1100T	KCNT1_uc011mdr.1_Missense_Mutation_p.A927T|KCNT1_uc010nbf.2_Missense_Mutation_p.A1055T|KCNT1_uc004cgo.1_3'UTR	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1100						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CGGTGACCCCGCAGAGCACCC	0.746													A	138678163	G	A	138678163	3	1	84	1	0	0	0	0	1	0	0	0	8091	1087	38	1	3412	1	KCNT1	9	138678163	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1033706	138678163	2535268	723	56266											
QSOX2	169714	broad.mit.edu	37	chr9	139107139	139107139	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttatgtgattagtaaggaaTattccagaaatctgaaaaac	7	4	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:139107139T>C	uc010nbi.2	-	10	1259	c.1221A>G	c.(1219-1221)ATA>ATG	p.I407M		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2 precursor	407					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			ovary(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TAGTAAGGAATATTCCAGAAA	0.358													C	139107139	T	C	139107139	3	2	84	1	0	0	0	0	1	0	0	0	12884	1396	49	3	887	3	QSOX2	9	139107139	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	428976	139107139	2106292	724	56267											
DNLZ	728489	broad.mit.edu	37	chr9	139256601	139256601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgccacacggtgcacctgctCgcctctggccgtcaggatct	11	17	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:139256601C>T	uc004chf.1	-	3	475	c.400G>A	c.(400-402)GAG>AAG	p.E134K	DNLZ_uc011mdv.1_RNA	NM_001080849	NP_001074318	Q5SXM8	DNLZ_HUMAN	DNL-type zinc finger	134	DNL-type.						metal ion binding				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)		TGCACCTGCTCGCCTCTGGCC	0.672													T	139256601	C	T	139256601	3	4	84	1	0	0	0	0	1	0	0	0	4669	893	31	1	140	1	DNLZ	9	139256601	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	149462	139256601	1956830	725	56268											
SEC16A	9919	broad.mit.edu	37	chr9	139353986	139353986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtagcagaagtgggccGcatccaagaggccccttgaa	14	10	0	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:139353986G>A	uc004chx.2	-	16	5522	c.5213C>T	c.(5212-5214)GCG>GTG	p.A1738V	SEC16A_uc004chu.2_5'Flank|SEC16A_uc004chv.3_Missense_Mutation_p.A1128V|SEC16A_uc004chw.2_Missense_Mutation_p.A1738V|SEC16A_uc010nbn.2_Missense_Mutation_p.A1738V	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1560					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GAAGTGGGCCGCATCCAAGAG	0.567													A	139353986	G	A	139353986	3	1	84	1	0	0	0	0	1	0	0	0	13986	1087	38	1	1928	1	SEC16A	9	139353986	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	97385	139353986	1859445	726	56269											
LCNL1	401562	broad.mit.edu	37	chr9	139879360	139879360	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaccagccctttctgcAcgcggaaggtggaaccgctg	12	15	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:139879360A>T	uc004ckh.1	+	3	986	c.392A>T	c.(391-393)CAC>CTC	p.H131L		NM_207510	NP_997393	Q6ZST4	LCNL1_HUMAN	lipocalin-like 1	131							binding				0						CCCTTTCTGCACGCGGAAGGT	0.507													T	139879360	A	T	139879360	3	4	84	1	0	0	0	0	1	0	0	0	8688	159	6	5	402	5	LCNL1	9	139879360	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	525374	139879360	1334071	727	56270											
PNPLA7	375775	broad.mit.edu	37	chr9	140356679	140356679	+	Frame_Shift_Del	DEL	G	G	-													agggtgctgtagctgtcgatGggggggcgcaggtactcgca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:140356679delG	uc004cnf.2	-	30	3859	c.3522delC	c.(3520-3522)CCCfs	p.P1174fs	C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Frame_Shift_Del_p.P421fs|PNPLA7_uc004cne.1_Frame_Shift_Del_p.P440fs|PNPLA7_uc011mfa.1_Frame_Shift_Del_p.P582fs|PNPLA7_uc010ncj.1_Frame_Shift_Del_p.P1199fs|NELF_uc004cna.2_5'Flank|NELF_uc011mez.1_5'Flank|NELF_uc004cmz.2_5'Flank|NELF_uc004cnc.2_5'Flank|NELF_uc004cnb.2_5'Flank	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1174					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AGCTGTCGATGGGGGGGCGCA	0.652													-	140356679	G	-	140356679	7	5	84	1	0	1	0	1	0	0	0	0	12170	1335	47	0	451	0	PNPLA7	9	140356679	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	477319	140356679	856752	728	56271											
PNPLA7	375775	broad.mit.edu	37	chr9	140437890	140437890	+	Frame_Shift_Del	DEL	T	T	-													atccccgctcttaccgaacgTttttcagcatgtacagaact							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:140437890delT	uc004cnf.2	-	5	762	c.425delA	c.(424-426)AACfs	p.N142fs	PNPLA7_uc010ncj.1_Frame_Shift_Del_p.N167fs	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	142					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TTACCGAACGTTTTTCAGCAT	0.637													-	140437890	T	-	140437890	7	5	84	1	0	1	0	1	0	0	0	0	12170	1725	60	0	3648	0	PNPLA7	9	140437890	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	81211	140437890	775541	729	56272											
CACNA1B	774	broad.mit.edu	37	chr9	140901268	140901268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgtatcacgggatcgaatCgcaaggcggcgtcagcaaag	14	9	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:140901268C>T	uc004cog.2	+	16	2169	c.2024C>T	c.(2023-2025)TCG>TTG	p.S675L	CACNA1B_uc011mfd.1_Missense_Mutation_p.S206L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	675	Extracellular (Potential).|II.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGGATCGAATCGCAAGGCGGC	0.572													T	140901268	C	T	140901268	3	4	84	1	0	0	0	0	1	0	0	0	2539	893	31	1	2086	1	CACNA1B	9	140901268	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	463378	140901268	312163	730	56273											
CACNA1B	774	broad.mit.edu	37	chr9	140952659	140952659	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcatcaccttccaggagcAgggggacaaggtgatgtctg	13	10	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:140952659A>C	uc004cog.2	+	28	4410	c.4265A>C	c.(4264-4266)CAG>CCG	p.Q1422P	CACNA1B_uc011mfd.1_Missense_Mutation_p.Q952P|CACNA1B_uc004coi.2_Missense_Mutation_p.Q636P	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1422	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TTCCAGGAGCAGGGGGACAAG	0.537													C	140952659	A	C	140952659	3	2	84	1	0	0	0	0	1	0	0	0	2539	188	7	5	4375	5	CACNA1B	9	140952659	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	51391	140952659	260772	731	56274											
ZMYND11	10771	broad.mit.edu	37	chr10	267248	267248	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccaagtgtttgtctgatgaGttcaggcttagagacagcag	12	7	2	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:267248G>C	uc010pzt.1	+	4	818	c.390G>C	c.(388-390)GAG>GAC	p.E130D	ZMYND11_uc001ifk.2_Missense_Mutation_p.E130D|ZMYND11_uc010pzu.1_Missense_Mutation_p.E130D|ZMYND11_uc010pzv.1_Intron|ZMYND11_uc010pzw.1_Intron|ZMYND11_uc001ifm.2_Intron|ZMYND11_uc010pzx.1_Missense_Mutation_p.E130D|ZMYND11_uc001ifn.2_Intron|ZMYND11_uc009xhg.2_Missense_Mutation_p.E113D|ZMYND11_uc009xhh.2_Intron|ZMYND11_uc010pzy.1_Intron	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	90	PHD-type.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGTCTGATGAGTTCAGGCTTA	0.443													C	267248	G	C	267248	3	2	84	1	0	0	0	0	1	0	0	0	17703	1020	36	5	400	5	ZMYND11	10	267248	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08		267248	135267499	732	56275											
LARP4B	23185	broad.mit.edu	37	chr10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-													agataagcagaattccaatgTttttttaagtacttctcggg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:890939delT	uc001ifs.1	-	5	528	c.487delA	c.(487-489)ACAfs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	163	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						AATTCCAATGTTTTTTTAAGT	0.353													-	890939	T	-	890939	7	5	84	1	0	1	0	1	0	0	0	0	8631	1725	60	0	1781	0	LARP4B	10	890939	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	623691	890939	134643808	733	56276											
GDI2	2665	broad.mit.edu	37	chr10	5827903	5827903	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttatacacatctcgcattgTggtcttcttaggatcaatgc	7	10	4	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:5827903T>C	uc001iil.3	-	5	790	c.499A>G	c.(499-501)ACA>GCA	p.T167A	GDI2_uc001iim.3_Missense_Mutation_p.T122A|GDI2_uc009xid.2_Missense_Mutation_p.T171A	NM_001494	NP_001485	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2 isoform 1	167					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity				0						TCTCGCATTGTGGTCTTCTTA	0.363													C	5827903	T	C	5827903	3	2	84	1	0	0	0	0	1	0	0	0	6321	1696	59	3	866	3	GDI2	10	5827903	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	4936964	5827903	129706844	734	56277											
FBXO18	84893	broad.mit.edu	37	chr10	5966439	5966439	+	Frame_Shift_Del	DEL	A	A	-													agagctggtgcaaaggatagAaaaatgccatatagaagatt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:5966439delA	uc001iis.2	+	17	2659	c.2564delA	c.(2563-2565)GAAfs	p.E855fs	FBXO18_uc001iir.2_Frame_Shift_Del_p.E781fs|FBXO18_uc009xig.2_Frame_Shift_Del_p.E781fs|FBXO18_uc001iit.2_Frame_Shift_Del_p.E906fs	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	855					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						CAAAGGATAGAAAAATGCCAT	0.443													-	5966439	A	-	5966439	7	5	84	1	0	1	0	1	0	0	0	0	5731	246	9	0	2792	0	FBXO18	10	5966439	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	138536	5966439	129568308	735	56278											
CELF2	10659	broad.mit.edu	37	chr10	11356215	11356215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgaataatattaatgcaCtagcaggtaccatcaacagt	7	8	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:11356215C>T	uc001iki.3	+	10	1161	c.1069C>T	c.(1069-1071)CTA>TTA	p.L357L	CELF2_uc010qbi.1_Silent_p.L129L|CELF2_uc010qbj.1_Silent_p.L357L|CELF2_uc001ikk.2_Silent_p.L364L|CELF2_uc001ikl.3_Silent_p.L364L|CELF2_uc010qbl.1_Silent_p.L333L|CELF2_uc010qbm.1_Silent_p.L129L|CELF2_uc001iko.3_Silent_p.L333L|CELF2_uc001ikp.3_Silent_p.L333L|CELF2_uc010qbn.1_Silent_p.L341L|CELF2_uc010qbo.1_Silent_p.L246L|CELF2_uc010qbp.1_Silent_p.L129L	NM_001025077	NP_001020248	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2	357	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|Ala-rich.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0						TATTAATGCACTAGCAGGTAC	0.512													T	11356215	C	T	11356215	2	4	84	1	0	0	0	0	0	0	0	1	3216	564	20	4		4	CELF2	10	11356215	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	5389776	11356215	124178532	736	56279											
CAMK1D	57118	broad.mit.edu	37	chr10	12870861	12870861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaggcccaccactgtgaCggcagtgcactctggaagca	11	15	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:12870861C>T	uc001ilo.2	+	11	1368	c.1133C>T	c.(1132-1134)ACG>ATG	p.T378M		NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	378						calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)|stomach(1)	2				GBM - Glioblastoma multiforme(1;3.16e-05)		ACCACTGTGACGGCAGTGCAC	0.667													T	12870861	C	T	12870861	3	4	84	1	0	0	0	0	1	0	0	0	2597	536	19	1	1210	1	CAMK1D	10	12870861	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1514646	12870861	122663886	737	56280											
VIM	7431	broad.mit.edu	37	chr10	17277877	17277877	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttccaaacttttcctcccTgaacctgaggggtaagcatt	7	12	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:17277877T>C	uc001iou.2	+	8	1675	c.1262T>C	c.(1261-1263)CTG>CCG	p.L421P	VIM_uc001iov.1_Missense_Mutation_p.L421P|VIM_uc001iow.1_Intron|VIM_uc001iox.1_Missense_Mutation_p.L421P|VIM_uc001ioy.1_Intron|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_Intron|VIM_uc009xjv.1_Missense_Mutation_p.L379P|VIM_uc001ipc.1_Missense_Mutation_p.L421P	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	421	Tail.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TTTTCCTCCCTGAACCTGAGG	0.368													C	17277877	T	C	17277877	3	2	84	1	0	0	0	0	1	0	0	0	17163	1580	55	3	1288	3	VIM	10	17277877	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	4407016	17277877	118256870	738	56281											
ST8SIA6	338596	broad.mit.edu	37	chr10	17363321	17363322	+	Frame_Shift_Ins	INS	-	-	T													tgtcctccagaaatagggctINStttttttcctttaagttccc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:17363320_17363321C>CT	uc001ipd.3	-	7	753_754	c.753_754G>AG	c.(751-756)aaagccfs	p.K251fs	ST8SIA6_uc010qce.2_Non-coding_Transcript	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 (ST8SIA6), mRNA.	251					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AGAAATAGGGCTTTTTTTTCCT	0.347													T	17363322	-	T	17363321	7	5	84	1	0	1	1	0	0	0	0	0	15235	1606	56	0	447	0	ST8SIA6	10	17363321	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	85444	17363321	118171426	739	56282											
NEBL	10529	broad.mit.edu	37	chr10	21097468	21097468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacggtcttgttacctcaCtgcagcatgaaaagctaggg	11	10	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:21097468C>T	uc001iqi.2	-	26	3129	c.2732G>A	c.(2731-2733)AGT>AAT	p.S911N	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	911	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						TGTTACCTCACTGCAGCATGA	0.433													T	21097468	C	T	21097468	3	4	84	1	0	0	0	0	1	0	0	0	10303	565	20	4	324	4	NEBL	10	21097468	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	3734147	21097468	114437279	740	56283											
KIAA1217	56243	broad.mit.edu	37	chr10	24835164	24835164	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgccaagggcaccaggAccatccatactcccagcctc	9	16	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:24835164A>G	uc001iru.3	+	21	6146	c.5743A>G	c.(5743-5745)ACC>GCC	p.T1915A	KIAA1217_uc001irs.2_Missense_Mutation_p.T1236A|KIAA1217_uc001irt.3_Missense_Mutation_p.T1281A|KIAA1217_uc010qcy.1_Missense_Mutation_p.T1346A|KIAA1217_uc010qcz.1_Missense_Mutation_p.T1321A|KIAA1217_uc001irw.2_3'UTR|KIAA1217_uc001irz.2_3'UTR|KIAA1217_uc001irx.2_3'UTR|KIAA1217_uc001iry.2_3'UTR	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1915					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						GGGCACCAGGACCATCCATAC	0.373													G	24835164	A	G	24835164	3	3	84	1	0	0	0	0	1	0	0	0	8216	275	10	3	5825	3	KIAA1217	10	24835164	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	3737696	24835164	110699583	741	56284											
ANKRD26	22852	broad.mit.edu	37	chr10	27306639	27306639	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgttttcatagataacaacTcctcttgaagaatttggttc	6	8	2	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:27306639T>C	uc001ith.2	-	30	4467	c.4295A>G	c.(4294-4296)GAG>GGG	p.E1432G	ANKRD26_uc001itg.2_Missense_Mutation_p.E1119G|ANKRD26_uc009xku.1_Missense_Mutation_p.E1433G	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1432	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						AGATAACAACTCCTCTTGAAG	0.333													C	27306639	T	C	27306639	3	2	84	1	0	0	0	0	1	0	0	0	654	1551	54	3	854	3	ANKRD26	10	27306639	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	2471475	27306639	108228108	742	56285											
ANKRD26	22852	broad.mit.edu	37	chr10	27324065	27324065	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatttccttcatttgacacTgtgtttggcttaggtccttt	7	10	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:27324065T>C	uc001ith.2	-	24	3483	c.3311A>G	c.(3310-3312)CAG>CGG	p.Q1104R	ANKRD26_uc001itg.2_Missense_Mutation_p.Q791R|ANKRD26_uc009xku.1_Missense_Mutation_p.Q1105R	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1104	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						CATTTGACACTGTGTTTGGCT	0.383													C	27324065	T	C	27324065	3	2	84	1	0	0	0	0	1	0	0	0	654	1580	55	3	1862	3	ANKRD26	10	27324065	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	17426	27324065	108210682	743	56286											
YME1L1	10730	broad.mit.edu	37	chr10	27425268	27425268	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggaggtagactggagacgTcgtgtccttgatttcaaagt	13	7	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:27425268T>C	uc001iti.2	-	6	830	c.648A>G	c.(646-648)CGA>CGG	p.R216R	YME1L1_uc001itj.2_Silent_p.R159R|YME1L1_uc010qdl.1_Silent_p.R126R|YME1L1_uc009xkv.2_RNA	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	216					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						ACTGGAGACGTCGTGTCCTTG	0.348													C	27425268	T	C	27425268	2	2	84	1	0	0	0	0	0	0	0	1	17484	1654	58	3		3	YME1L1	10	27425268	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	101203	27425268	108109479	744	56287											
ARMC4	55130	broad.mit.edu	37	chr10	28284024	28284024	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttcgaggattccagttccAtgtccggcagcagtccactg	10	12	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:28284024A>G	uc009xky.2	-	2	146	c.48T>C	c.(46-48)CAT>CAC	p.H16H	ARMC4_uc001itz.2_Silent_p.H16H	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	16							binding			ovary(4)|skin(2)	6						TTCCAGTTCCATGTCCGGCAG	0.468													G	28284024	A	G	28284024	2	3	84	1	0	0	0	0	0	0	0	1	953	214	8	3		3	ARMC4	10	28284024	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	858756	28284024	107250723	745	56288											
SVIL	6840	broad.mit.edu	37	chr10	29760116	29760116	+	Frame_Shift_Del	DEL	C	C	-													ctccccgagtgcaccaccatCcccccctggaaacactgcag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:29760115_29760115TC>T	uc001iut.1	-	30	6340	c.5587_5587GA>A	c.(5587-5589)atgfs	p.M1863fs	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Frame_Shift_Del_p.M777fs|SVIL_uc001iuu.1_Frame_Shift_Del_p.M1437fs	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1863					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCACCACCATCCCCCCCTGG	0.527													-	29760116	C	-	29760116	7	5	84	1	0	1	0	1	0	0	0	0	15418	842	30	0	1090	0	SVIL	10	29760116	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	1476092	29760116	105774631	746	56289											
BMS1	9790	broad.mit.edu	37	chr10	43297643	43297643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggaagatgataaagatgCagccaaggtcttagcagaag	14	5	1	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:43297643C>T	uc001jaj.2	+	13	2664	c.2306C>T	c.(2305-2307)GCA>GTA	p.A769V		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	769					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						GATAAAGATGCAGCCAAGGTC	0.408													T	43297643	C	T	43297643	3	4	84	1	0	0	0	0	1	0	0	0	1472	710	25	2	2352	2	BMS1	10	43297643	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	13537527	43297643	92237104	747	56290											
BMS1	9790	broad.mit.edu	37	chr10	43316002	43316002	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	taagaaaatcctcaagtcccGagatccaatcatattttctg	5	10	3	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:43316002G>T	uc001jaj.2	+	17	3174	c.2816G>T	c.(2815-2817)CGA>CTA	p.R939L		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	939					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						CTCAAGTCCCGAGATCCAATC	0.453													T	43316002	G	T	43316002	3	4	84	1	0	0	0	0	1	0	0	0	1472	1058	37	5	2878	5	BMS1	10	43316002	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	18359	43316002	92218745	748	56291											
RET	5979	broad.mit.edu	37	chr10	43609082	43609082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcacctgcaactgcttccCtgaggaggagaagtgcttct	12	11	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:43609082C>T	uc001jal.2	+	10	2028	c.1838C>T	c.(1837-1839)CCT>CTT	p.P613L	RET_uc001jak.1_Missense_Mutation_p.P613L|RET_uc010qez.1_Missense_Mutation_p.P359L	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	613	Extracellular (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.F612_C620del(1)		thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	AACTGCTTCCCTGAGGAGGAG	0.647		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				T	43609082	C	T	43609082	3	4	84	1	0	0	0	0	1	0	0	0	13235	681	24	4	1876	4	RET	10	43609082	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	293080	43609082	91925665	749	56292											
FRMPD2	143162	broad.mit.edu	37	chr10	49450202	49450202	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagcacggttctctactgAcctcagaaatggtacccaga	8	11	2	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:49450202A>G	uc001jgi.2	-	5	674	c.567_splice	c.e5+1	p.E189_splice	FRMPD2_uc001jgh.2_Splice_Site_p.E158_splice|FRMPD2_uc001jgj.2_Splice_Site_p.E167_splice	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3						tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		TTCTCTACTGACCTCAGAAAT	0.289													G	49450202	A	G	49450202	5	3	84	1	0	0	0	0	0	0	1	0	6058	289	10	3	3460	3	FRMPD2	10	49450202	Splice_Site	SNP	A	TCGA-BR-8372-01A-11D-2340-08	5841120	49450202	86084545	750	56293											
C10orf72	196740	broad.mit.edu	37	chr10	50315772	50315772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacggagagcctgtagagCgccccccgctgctcctccag	12	16	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:50315772C>T	uc001jhf.2	-	2	353	c.324G>A	c.(322-324)GCG>GCA	p.A108A	C10orf72_uc001jhh.2_Silent_p.A108A	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	hypothetical protein LOC196740 isoform 1	108	Ig-like.|Extracellular (Potential).					integral to membrane|plasma membrane					0						GCCTGTAGAGCGCCCCCCGCT	0.612													T	50315772	C	T	50315772	2	4	84	1	0	0	0	0	0	0	0	1	1615	755	27	1		1	C10orf72	10	50315772	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	865570	50315772	85218975	751	56294											
PCDH15	65217	broad.mit.edu	37	chr10	55566601	55566601	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagaaaatggcccctttgatAatgtgttcagaggtacattc	9	7	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:55566601A>G	uc010qhq.1	-	36	5182	c.4787T>C	c.(4786-4788)TTA>TCA	p.L1596S	PCDH15_uc010qhr.1_Missense_Mutation_p.L1591S	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD3-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CCCCTTTGATAATGTGTTCAG	0.463										HNSCC(58;0.16)			G	55566601	A	G	55566601	3	3	84	1	0	0	0	0	1	0	0	0	11511	372	13	3	265	3	PCDH15	10	55566601	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	5250829	55566601	79968146	752	56295											
ARID5B	84159	broad.mit.edu	37	chr10	63851281	63851281	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaggggcaacccaggcatcAtgtccccactggccaagaaa	10	14	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:63851281A>G	uc001jlt.1	+	10	2085	c.2059A>G	c.(2059-2061)ATG>GTG	p.M687V		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	687					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					CCCAGGCATCATGTCCCCACT	0.527													G	63851281	A	G	63851281	3	3	84	1	0	0	0	0	1	0	0	0	922	217	8	3	2097	3	ARID5B	10	63851281	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	8284680	63851281	71683466	753	56296											
JMJD1C	221037	broad.mit.edu	37	chr10	64966903	64966903	+	Frame_Shift_Del	DEL	T	T	-													gggaggctgaaagtgtctgaTtttttatagcattaggttca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:64966903delT	uc001jmn.2	-	10	4826	c.4526delA	c.(4525-4527)AATfs	p.N1509fs	JMJD1C_uc001jml.2_Frame_Shift_Del_p.N1290fs|JMJD1C_uc001jmm.2_Frame_Shift_Del_p.N1221fs|JMJD1C_uc010qiq.1_Frame_Shift_Del_p.N1327fs|JMJD1C_uc009xpi.2_Frame_Shift_Del_p.N1327fs|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Frame_Shift_Del_p.N546fs	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1509					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAGTGTCTGATTTTTTATAGC	0.398													-	64966903	T	-	64966903	7	5	84	1	0	1	0	1	0	0	0	0	7950	1493	52	0	3164	0	JMJD1C	10	64966903	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	1115622	64966903	70567844	754	56297											
DNA2	1763	broad.mit.edu	37	chr10	70182529	70182529	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaatctccgtgaaaaaaaaAgggggcccagacaaattggt	10	8	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:70182529A>G	uc001jof.2	-	15	2585	c.2585T>C	c.(2584-2586)CTT>CCT	p.L862P	DNA2_uc001jog.1_Intron|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	776					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						TGAAAAAAAAAGGGGGCCCAG	0.418													G	70182529	A	G	70182529	3	3	84	1	0	0	0	0	1	0	0	0	4596	72	3	3	883	3	DNA2	10	70182529	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	5215626	70182529	65352218	755	56298											
P4HA1	5033	broad.mit.edu	37	chr10	74834629	74834629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaattcctataattaataTataccagatcatcttggaag	5	7	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:74834629T>C	uc010qka.1	-	3	347	c.13A>G	c.(13-15)ATA>GTA	p.I5V	P4HA1_uc001jtg.2_Missense_Mutation_p.I5V|P4HA1_uc001jth.2_Missense_Mutation_p.I5V|P4HA1_uc010qkb.1_Missense_Mutation_p.I5V|P4HA1_uc001jti.2_RNA	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha I subunit isoform 2	5						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			ovary(1)	1	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATAATTAATATATACCAGATC	0.333													C	74834629	T	C	74834629	3	2	84	1	0	0	0	0	1	0	0	0	11356	1406	49	3	1722	3	P4HA1	10	74834629	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	4652100	74834629	60700118	756	56299											
NDST2	8509	broad.mit.edu	37	chr10	75564621	75564621	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgcctcttgtcatcacAgggattctgaagccagggcc	11	11	4	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:75564621A>G	uc001jvk.2	-	9	2557	c.1753T>C	c.(1753-1755)TGT>CGT	p.C585R	NDST2_uc010qks.1_Missense_Mutation_p.C211R|NDST2_uc010qkt.1_Missense_Mutation_p.C462R|NDST2_uc001jvl.1_5'Flank|NDST2_uc009xro.2_Missense_Mutation_p.C211R|NDST2_uc010qku.1_Missense_Mutation_p.C460R	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	585	Lumenal (Potential).|Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1	Prostate(51;0.0112)					TTGTCATCACAGGGATTCTGA	0.333													G	75564621	A	G	75564621	3	3	84	1	0	0	0	0	1	0	0	0	10256	188	7	3	926	3	NDST2	10	75564621	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	729992	75564621	59970126	757	56300											
AP3M1	26985	broad.mit.edu	37	chr10	75884257	75884257	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagcttttgtggagtaAtttttcccacatcccatgtt	9	8	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:75884257A>T	uc001jwf.2	-	8	1467	c.1037T>A	c.(1036-1038)ATT>AAT	p.I346N	AP3M1_uc001jwg.2_Missense_Mutation_p.I346N|AP3M1_uc001jwh.2_Missense_Mutation_p.I346N|AP3M1_uc010qla.1_Missense_Mutation_p.I292N	NM_207012	NP_996895	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	346	MHD.				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding				0	Prostate(51;0.0112)					TTGTGGAGTAATTTTTCCCAC	0.358													T	75884257	A	T	75884257	3	4	84	1	0	0	0	0	1	0	0	0	747	101	4	5	227	5	AP3M1	10	75884257	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	319636	75884257	59650490	758	56301											
MYST4	23522	broad.mit.edu	37	chr10	76780463	76780463	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtatctctaccaccaccAtgagaggcacatcagcatca	8	13	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:76780463A>G	uc001jwn.1	+	14	3246	c.2753A>G	c.(2752-2754)CAT>CGT	p.H918R	MYST4_uc001jwm.1_Missense_Mutation_p.H626R|MYST4_uc001jwo.1_Missense_Mutation_p.H626R|MYST4_uc001jwp.1_Missense_Mutation_p.H735R	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	918	Catalytic.|Interaction with BRPF1.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					TACCACCACCATGAGAGGCAC	0.547			T	CREBBP	AML								G	76780463	A	G	76780463	3	3	84	1	0	0	0	0	1	0	0	0	10105	217	8	3	2799	3	MYST4	10	76780463	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	896206	76780463	58754284	759	56302											
KCNMA1	3778	broad.mit.edu	37	chr10	79010963	79010963	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaatactcactttgatgaatCtatgaagtatattacaagtg	7	5	2	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:79010963C>A	uc001jxn.2	-	3	769	c.592G>T	c.(592-594)GAT>TAT	p.D198Y	KCNMA1_uc001jxj.2_Missense_Mutation_p.D198Y|KCNMA1_uc009xrt.1_5'UTR|KCNMA1_uc001jxo.2_Missense_Mutation_p.D198Y|KCNMA1_uc001jxm.2_Missense_Mutation_p.D198Y|KCNMA1_uc001jxq.2_Missense_Mutation_p.D198Y	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	198	Helical; Name=Segment S1; (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TTTGATGAATCTATGAAGTAT	0.373											OREG0020289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	79010963	C	A	79010963	3	1	84	1	0	0	0	0	1	0	0	0	8073	913	32	5	3394	5	KCNMA1	10	79010963	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2230500	79010963	56523784	760	56303											
CDHR1	92211	broad.mit.edu	37	chr10	85967975	85967975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagctgcccaggccaccGtcccagtcaccatcaggatt	9	18	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:85967975G>A	uc001kcv.2	+	11	1009	c.1009G>A	c.(1009-1011)GTC>ATC	p.V337I	CDHR1_uc001kcw.2_Missense_Mutation_p.V337I|CDHR1_uc009xst.2_Missense_Mutation_p.V96I	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	337	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						CCAGGCCACCGTCCCAGTCAC	0.577													A	85967975	G	A	85967975	3	1	84	1	0	0	0	0	1	0	0	0	3118	1145	40	1	1051	1	CDHR1	10	85967975	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	6957012	85967975	49566772	761	56304											
MMRN2	79812	broad.mit.edu	37	chr10	88717266	88717266	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcagcccccagcccaggggGcccccaaggctgaacagcaa	12	17	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:88717266G>C	uc001kea.2	-	1	160	c.33C>G	c.(31-33)GGC>GGG	p.G11G	MMRN2_uc010qmn.1_5'UTR|MMRN2_uc009xtb.2_Silent_p.G11G|SNCG_uc001keb.2_5'Flank	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	11						extracellular space				large_intestine(1)	1						AGCCCAGGGGGCCCCCAAGGC	0.622													C	88717266	G	C	88717266	2	2	84	1	0	0	0	0	0	0	0	1	9671	1190	42	5		5	MMRN2	10	88717266	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	2749291	88717266	46817481	762	56305											
TNKS2	80351	broad.mit.edu	37	chr10	93579761	93579761	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacagctgttactgcaacaTggagctgatgtccatgctaa	10	9	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:93579761T>C	uc001khp.2	+	6	996	c.699T>C	c.(697-699)CAT>CAC	p.H233H		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	233	ANK 4.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				TACTGCAACATGGAGCTGATG	0.318													C	93579761	T	C	93579761	2	2	84	1	0	0	0	0	0	0	0	1	16318	1461	51	3		3	TNKS2	10	93579761	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	4862495	93579761	41954986	763	56306											
HELLS	3070	broad.mit.edu	37	chr10	96336485	96336485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtaagaaatatttacaaaCggaaagggactttgcagatt	10	4	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:96336485C>T	uc001kjt.2	+	10	1060	c.955C>T	c.(955-957)CGG>TGG	p.R319W	HELLS_uc001kjs.2_Missense_Mutation_p.R303W|HELLS_uc009xul.2_Missense_Mutation_p.R319W|HELLS_uc009xum.2_Intron|HELLS_uc009xun.2_Missense_Mutation_p.R195W|HELLS_uc009xuo.2_Missense_Mutation_p.R319W|HELLS_uc001kju.2_Intron|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Missense_Mutation_p.R181W|HELLS_uc009xur.2_RNA	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	319	Helicase ATP-binding.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			ovary(1)|kidney(1)	2		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TATTTACAAACGGAAAGGGAC	0.348													T	96336485	C	T	96336485	3	4	84	1	0	0	0	0	1	0	0	0	7046	527	19	1	993	1	HELLS	10	96336485	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2756724	96336485	39198262	764	56307											
ALDH18A1	5832	broad.mit.edu	37	chr10	97373858	97373858	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaagagccacgtggaaTgatcagatctatcattttgt	11	7	3	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:97373858T>C	uc001kkz.2	-	14	1908	c.1666A>G	c.(1666-1668)ATT>GTT	p.I556V	ALDH18A1_uc001kky.2_Missense_Mutation_p.I554V|ALDH18A1_uc010qog.1_Missense_Mutation_p.I445V|ALDH18A1_uc010qoh.1_Missense_Mutation_p.I344V	NM_002860	NP_002851	P54886	P5CS_HUMAN	pyrroline-5-carboxylate synthetase isoform 1	556	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			pancreas(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	CCACGTGGAATGATCAGATCT	0.448													C	97373858	T	C	97373858	3	2	84	1	0	0	0	0	1	0	0	0	489	1464	51	3	741	3	ALDH18A1	10	97373858	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1037373	97373858	38160889	765	56308											
SLIT1	6585	broad.mit.edu	37	chr10	98761090	98761090	+	Frame_Shift_Del	DEL	C	C	-													gtgaaagtcccggacagggtCcccccggcactcggactctg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:98761089_98761089TC>T	uc001kmw.2	-	36	4637	c.4385_4385GA>A	c.(4384-4386)gacfs	p.D1462fs		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	1462	CTCK.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CCGGACAGGGTCCCCCCGGCA	0.667													-	98761090	C	-	98761090	7	5	84	1	0	1	0	1	0	0	0	0	14739	855	30	0	224	0	SLIT1	10	98761090	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	1387232	98761090	36773657	766	56309											
C10orf28	27291	broad.mit.edu	37	chr10	100003868	100003868	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagaaagcggttggaagccAagcaacgggaagacatctgg	15	7	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:100003868A>G	uc001kow.3	+	9	2585	c.2290A>G	c.(2290-2292)AAG>GAG	p.K764E	C10orf28_uc001kox.3_Missense_Mutation_p.K778E|C10orf28_uc001koy.3_Missense_Mutation_p.K764E|C10orf28_uc009xvx.2_Missense_Mutation_p.K764E|C10orf28_uc009xvy.2_Missense_Mutation_p.K170E|C10orf28_uc001koz.3_RNA	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	764							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		GTTGGAAGCCAAGCAACGGGA	0.403													G	100003868	A	G	100003868	3	3	84	1	0	0	0	0	1	0	0	0	1601	131	5	3	2312	3	C10orf28	10	100003868	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1242778	100003868	35530879	767	56310											
PKD2L1	9033	broad.mit.edu	37	chr10	102051105	102051105	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tttttcctgttccttctcatCcagaatacgattcccatctc	3	14	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:102051105C>A	uc001kqx.1	-	12	2343	c.1960G>T	c.(1960-1962)GAT>TAT	p.D654Y	PKD2L1_uc009xwm.1_Missense_Mutation_p.D607Y	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	654	Potential.|Cytoplasmic (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCCTTCTCATCCAGAATACGA	0.507													A	102051105	C	A	102051105	3	1	84	1	0	0	0	0	1	0	0	0	11967	855	30	5	477	5	PKD2L1	10	102051105	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2047237	102051105	33483642	768	56311											
PAX2	5076	broad.mit.edu	37	chr10	102587324	102587324	+	Frame_Shift_Del	DEL	C	C	-													cccttattattatagtgccgCcccccggggctccgcccctg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:102587323_102587323GC>G	uc001krk.4	+	10	1732	c.1182_1182GC>G	c.(1180-1182)ccgfs	p.P394fs	PAX2_uc001krm.4_Frame_Shift_Del_p.A401fs|PAX2_uc001krn.4_Frame_Shift_Del_p.P371fs|PAX2_uc001kro.4_Frame_Shift_Del_p.A378fs|PAX2_uc010qps.2_Frame_Shift_Del_p.A377fs|PAX2_uc001krl.4_3'UTR	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	394					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TTATAGTGCCGCCCCCCGGGG	0.572													-	102587324	C	-	102587324	7	5	84	1	0	1	0	1	0	0	0	0	11479	739	26	0	1331	0	PAX2	10	102587324	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	536219	102587324	32947423	769	56312											
LBX1	10660	broad.mit.edu	37	chr10	102987157	102987157	+	Frame_Shift_Del	DEL	G	G	-													ccggggccttcggggcgcctGgggggaggaccggagagccg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:102987156_102987156TG>T	uc001ksx.3	-	1	862	c.717_717CA>A	c.(715-717)ccafs	p.P239fs	FLJ41350_uc010qpy.2_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	Homo sapiens ladybird homeobox 1 (LBX1), mRNA.	239					muscle organ development		sequence-specific DNA binding			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		TCGGGGCGCCTGGGGGGAGGA	0.761													-	102987157	G	-	102987157	7	5	84	1	0	1	0	1	0	0	0	0	8653	1348	47	0	133	0	LBX1	10	102987157	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	399833	102987157	32547590	770	56313											
LBX1	10660	broad.mit.edu	37	chr10	102988546	102988546	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccgctcctcccccggcgcCgccttgccgtcctccttgga	10	22	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:102988546C>A	uc001ksx.2	-	1	172	c.27G>T	c.(25-27)GCG>GCT	p.A9A	uc010qpy.1_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	ladybird homeobox 1	9					muscle organ development		sequence-specific DNA binding				0		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		CCCCCGGCGCCGCCTTGCCGT	0.488													A	102988546	C	A	102988546	2	1	84	1	0	0	0	0	0	0	0	1	8653	639	23	5		5	LBX1	10	102988546	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1389	102988546	32546201	771	56314											
BTRC	8945	broad.mit.edu	37	chr10	103295124	103295124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaggtatggaacacaaGtacttgtgaatttgtaagga	10	4	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:103295124G>A	uc001kta.2	+	11	1474	c.1361G>A	c.(1360-1362)AGT>AAT	p.S454N	BTRC_uc001ktb.2_Missense_Mutation_p.S418N|BTRC_uc001ktc.2_Missense_Mutation_p.S428N	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing protein	454	WD 4.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TGGAACACAAGTACTTGTGAA	0.413													A	103295124	G	A	103295124	3	1	84	1	0	0	0	0	1	0	0	0	1569	1029	36	4	1403	4	BTRC	10	103295124	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	306578	103295124	32239623	772	56315											
BTRC	8945	broad.mit.edu	37	chr10	103310573	103310574	+	Frame_Shift_Ins	INS	-	-	C													tccagctgcccaagctgaacINSccccccgttccccttctcga							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:103310572_103310573A>AC	uc001kta.3	+	13	1886_1887	c.1773_1774A>AC	c.(1771-1776)gaacccfs	p.E591fs	BTRC_uc001ktb.3_Frame_Shift_Ins_p.E555fs|BTRC_uc001ktc.3_Frame_Shift_Ins_p.E565fs	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	591					Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleus				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431													C	103310574	-	C	103310573	7	5	84	1	0	1	1	0	0	0	0	0	1569	507	18	0	1828	0	BTRC	10	103310573	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	15449	103310573	32224174	773	56316											
HPS6	79803	broad.mit.edu	37	chr10	103826899	103826899	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaataaccgctggaaaggaAccccccaatggaatactgcc	10	12	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:103826899A>G	uc001kuj.2	+	1	1753	c.1668A>G	c.(1666-1668)GAA>GAG	p.E556E		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome-6	556						cytosol|early endosome membrane|endoplasmic reticulum|microsome					0		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CTGGAAAGGAACCCCCCAATG	0.592									Hermansky-Pudlak_syndrome				G	103826899	A	G	103826899	2	3	84	1	0	0	0	0	0	0	0	1	7343	40	2	3		3	HPS6	10	103826899	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	516326	103826899	31707848	774	56317											
SUFU	51684	broad.mit.edu	37	chr10	104377154	104377154	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcctttgccactgaggagcAtccttacgcggctcatggac	11	14	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:104377154A>G	uc001kvy.1	+	10	1411	c.1265A>G	c.(1264-1266)CAT>CGT	p.H422R	SUFU_uc001kvw.1_Missense_Mutation_p.H422R|SUFU_uc001kvx.2_Missense_Mutation_p.H422R|SUFU_uc009xxe.1_Intron|SUFU_uc009xxf.1_RNA	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	suppressor of fused	422					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			central_nervous_system(4)|skin(2)|breast(1)	7		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ACTGAGGAGCATCCTTACGCG	0.532			D|F|S		medulloblastoma	medulloblastoma			Medulloblastoma_associated_with_Germline_SUFU_Mutation				G	104377154	A	G	104377154	3	3	84	1	0	0	0	0	1	0	0	0	15367	217	8	3	1303	3	SUFU	10	104377154	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	550255	104377154	31157593	775	56318											
SORCS3	22986	broad.mit.edu	37	chr10	106959852	106959852	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaccaaggaggactatcAgacctggcacctgctcaatc	9	13	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:106959852A>G	uc001kyi.1	+	15	2332	c.2105A>G	c.(2104-2106)CAG>CGG	p.Q702R	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	702	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GAGGACTATCAGACCTGGCAC	0.532													G	106959852	A	G	106959852	3	3	84	1	0	0	0	0	1	0	0	0	14932	188	7	3	2163	3	SORCS3	10	106959852	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2582698	106959852	28574895	776	56319											
NRAP	4892	broad.mit.edu	37	chr10	115413781	115413781	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caatttctagggtgcttaccTcaccaagagactttcgagcc	8	12	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:115413781T>G	uc001laj.2	-	5	628	c.464A>C	c.(463-465)GAG>GCG	p.E155A	NRAP_uc001lak.2_Missense_Mutation_p.E155A|NRAP_uc001lal.3_Missense_Mutation_p.E155A	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	155						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGTGCTTACCTCACCAAGAGA	0.413													G	115413781	T	G	115413781	3	3	84	1	0	0	0	0	1	0	0	0	10638	1565	54	5	4880	5	NRAP	10	115413781	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	8453929	115413781	20120966	777	56320											
TRUB1	142940	broad.mit.edu	37	chr10	116702484	116702484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagggactctagacagcGcagcccgaggagttctgggt	16	9	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:116702484G>A	uc001lcd.2	+	2	428	c.367G>A	c.(367-369)GCA>ACA	p.A123T	TRUB1_uc010qsl.1_Missense_Mutation_p.A25T	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase homolog 1	123					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding				0		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TCTAGACAGCGCAGCCCGAGG	0.448													A	116702484	G	A	116702484	3	1	84	1	0	0	0	0	1	0	0	0	16599	1087	38	1	373	1	TRUB1	10	116702484	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1288703	116702484	18832263	778	56321											
KIAA1598	57698	broad.mit.edu	37	chr10	118687324	118687324	+	Frame_Shift_Del	DEL	G	G	-													ggataggattgggaggtggaGggggaagtggtggtggagga					rs139468743		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:118687324delG	uc009xyw.2	-	11	1589	c.1091delC	c.(1090-1092)CCTfs	p.P364fs	KIAA1598_uc001lcz.3_Frame_Shift_Del_p.P364fs|KIAA1598_uc010qso.1_Frame_Shift_Del_p.P304fs|KIAA1598_uc010qsp.1_Frame_Shift_Del_p.P364fs|KIAA1598_uc010qsq.1_Frame_Shift_Del_p.P304fs|KIAA1598_uc001lcy.3_Frame_Shift_Del_p.P334fs	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN	shootin1 isoform a	364	Pro-rich.				axon guidance	axon					0				all cancers(201;0.00494)		Gggaggtggagggggaagtgg	0.333													-	118687324	G	-	118687324	7	5	84	1	0	1	0	1	0	0	0	0	8246	1000	35	0	832	0	KIAA1598	10	118687324	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	1984840	118687324	16847423	779	56322											
PPAPDC1A	196051	broad.mit.edu	37	chr10	122348993	122348993	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccagcttgcctctggagggGatcaccgaaggcccggtatg	14	13	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:122348993G>A	uc001lev.1	+	7	1147	c.795G>A	c.(793-795)GGG>GGA	p.G265G	PPAPDC1A_uc009xzl.1_Silent_p.G202G|PPAPDC1A_uc001lew.1_3'UTR|PPAPDC1A_uc001lex.1_3'UTR|PPAPDC1A_uc001ley.1_Silent_p.G144G	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain	265					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)	1		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CTCTGGAGGGGATCACCGAAG	0.557													A	122348993	G	A	122348993	2	1	84	1	0	0	0	0	0	0	0	1	12293	1161	41	4		4	PPAPDC1A	10	122348993	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	3661669	122348993	13185754	780	56323											
BTBD16	118663	broad.mit.edu	37	chr10	124050682	124050682	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgctggcttccgcccacaTcctccagttcagtggcctgt	10	15	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:124050682T>G	uc001lgc.1	+	7	814	c.563T>G	c.(562-564)ATC>AGC	p.I188S	BTBD16_uc001lgd.1_Missense_Mutation_p.I187S	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	188	BTB.									skin(1)	1		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TCCGCCCACATCCTCCAGTTC	0.572													G	124050682	T	G	124050682	3	3	84	1	0	0	0	0	1	0	0	0	1541	1435	50	5	585	5	BTBD16	10	124050682	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1701689	124050682	11484065	781	56324											
C10orf90	118611	broad.mit.edu	37	chr10	128193497	128193497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaatgttgactccgctgCggttagccagagattgcttg	13	8	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:128193497C>T	uc001ljq.2	-	3	393	c.272G>A	c.(271-273)CGC>CAC	p.R91H	C10orf90_uc001ljp.2_Missense_Mutation_p.R44H|C10orf90_uc010qum.1_Missense_Mutation_p.R188H|C10orf90_uc009yao.2_Missense_Mutation_p.R188H|C10orf90_uc001ljs.1_Missense_Mutation_p.R44H	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	91										ovary(1)|skin(1)	2		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GACTCCGCTGCGGTTAGCCAG	0.552													T	128193497	C	T	128193497	3	4	84	1	0	0	0	0	1	0	0	0	1623	768	27	1	1855	1	C10orf90	10	128193497	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	4142815	128193497	7341250	782	56325											
FOXI2	399823	broad.mit.edu	37	chr10	129537128	129537128	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgccacccacgctccccagAcccttaacccctcccctggc	5	24	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:129537128A>G	uc009yas.2	+	2	856	c.856A>G	c.(856-858)ACC>GCC	p.T286A	uc009yar.1_5'Flank	NM_207426	NP_997309	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	286					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				CGCTCCCCAGACCCTTAACCC	0.706													G	129537128	A	G	129537128	3	3	84	1	0	0	0	0	1	0	0	0	6010	275	10	3	862	3	FOXI2	10	129537128	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1343631	129537128	5997619	783	56326											
DPYSL4	10570	broad.mit.edu	37	chr10	134014423	134014423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggcaaggacaacttcgCgctgatccccgagggcacca	13	13	0	1	rs148495220	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:134014423C>T	uc009ybb.2	+	10	1200	c.1046C>T	c.(1045-1047)GCG>GTG	p.A349V		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	349					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GACAACTTCGCGCTGATCCCC	0.647													T	134014423	C	T	134014423	3	4	84	1	0	0	0	0	1	0	0	0	4749	768	27	1	1084	1	DPYSL4	10	134014423	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	4477295	134014423	1520324	784	56327											
MUC5B	727897	broad.mit.edu	37	chr11	1272703	1272703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgcccaccggttccacgGccaccgcctcctccactctg	9	20	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:1272703G>A	uc009ycr.1	+	52	15685	c.15559G>A	c.(15559-15561)GCC>ACC	p.A5187T	MUC5B_uc001ltb.2_Missense_Mutation_p.A4868T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4865	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGTTCCACGGCCACCGCCTC	0.647													A	1272703	G	A	1272703	3	1	84	1	0	0	0	0	1	0	0	0	9979	1203	42	2	14724	2	MUC5B	11	1272703	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08		1272703	133733813	785	56328											
MUC5B	727897	broad.mit.edu	37	chr11	1275371	1275371	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattccacctttgacggcacCtcttacaccttccggggcaa	7	15	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:1275371C>A	uc009ycr.1	+	55	16398	c.16272C>A	c.(16270-16272)ACC>ACA	p.T5424T	MUC5B_uc001ltb.2_Silent_p.T5092T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	5089	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TTGACGGCACCTCTTACACCT	0.602													A	1275371	C	A	1275371	2	1	84	1	0	0	0	0	0	0	0	1	9979	668	24	5		5	MUC5B	11	1275371	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2668	1275371	133731145	786	56329											
KRTAP5-5	439915	broad.mit.edu	37	chr11	1651322	1651322	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgttcctgctccagctgTggcaaagggggctgtggctc	15	11	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:1651322T>C	uc001lty.2	+	1	290	c.252T>C	c.(250-252)TGT>TGC	p.C84C		NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	84	8 X 4 AA repeats of C-C-X-P.					keratin filament				lung(1)	1		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTCCAGCTGTGGCAAAGGGG	0.542													C	1651322	T	C	1651322	2	2	84	1	0	0	0	0	0	0	0	1	8564	1702	59	3		3	KRTAP5-5	11	1651322	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	375951	1651322	133355194	787	56330											
KCNQ1	3784	broad.mit.edu	37	chr11	2609949	2609949	+	Frame_Shift_Del	DEL	A	A	-													cttgttttttttaggtaaagAaaaaaaagttcaagctggac							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:2609948_2609948GA>G	uc001lwn.3	+	9	1365	c.1257_1257GA>G	c.(1255-1257)aagfs	p.K419fs	KCNQ1_uc009ydp.1_Frame_Shift_Del_p.K203fs|KCNQ1_uc001lwo.3_Frame_Shift_Del_p.K292fs	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	419					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TTTAGGTAAAGAAAAAAAAGT	0.562													-	2609949	A	-	2609949	7	5	84	1	0	1	0	1	0	0	0	0	8082	247	9	0	1305	0	KCNQ1	11	2609949	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	958627	2609949	132396567	788	56331											
OR52R1	119695	broad.mit.edu	37	chr11	4825323	4825323	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatgaggcaggcatggtaCtgaatctcatgagcatgaaa	13	6	1	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:4825323C>T	uc010qym.1	-	1	525	c.525G>A	c.(523-525)CAG>CAA	p.Q175Q		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCATGGTACTGAATCTCAT	0.522													T	4825323	C	T	4825323	2	4	84	1	0	0	0	0	0	0	0	1	11131	564	20	4		4	OR52R1	11	4825323	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2215374	4825323	130181193	789	56332											
OR51S1	119692	broad.mit.edu	37	chr11	4869564	4869564	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagaatagggtttatcaatGgaggaagaaggaaatggaca	14	2	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:4869564G>T	uc010qyo.1	-	1	875	c.875C>A	c.(874-876)CCA>CAA	p.P292Q		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	292	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTTATCAATGGAGGAAGAAG	0.443													T	4869564	G	T	4869564	3	4	84	1	0	0	0	0	1	0	0	0	11105	1348	47	5	99	5	OR51S1	11	4869564	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	44241	4869564	130136952	790	56333											
OR51L1	119682	broad.mit.edu	37	chr11	5020966	5020966	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccatatctgtgtggtgcttAtcttctttgtgccagttatt	8	9	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:5020966A>G	uc010qyu.1	+	1	754	c.754A>G	c.(754-756)ATC>GTC	p.I252V		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L,	252	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTGGTGCTTATCTTCTTTGT	0.443													G	5020966	A	G	5020966	3	3	84	1	0	0	0	0	1	0	0	0	11102	449	16	3	756	3	OR51L1	11	5020966	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	151402	5020966	129985550	791	56334											
OR51I2	390064	broad.mit.edu	37	chr11	5474940	5474940	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtgatgtggccatatcCatggccacactgcccactgt	9	13	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:5474940C>A	uc010qzf.1	+	1	222	c.222C>A	c.(220-222)TCC>TCA	p.S74S	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I,	74	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCCATATCCATGGCCACAC	0.498													A	5474940	C	A	5474940	2	1	84	1	0	0	0	0	0	0	0	1	11101	581	21	5		5	OR51I2	11	5474940	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	453974	5474940	129531576	792	56335											
TRIM5	85363	broad.mit.edu	37	chr11	5701098	5701098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtcctcctgacagaagaGtagaagtttctctccatggc	9	13	1	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:5701098G>A	uc001mbm.1	-	2	567	c.310C>T	c.(310-312)CTC>TTC	p.L104F	TRIM5_uc001mbq.1_Missense_Mutation_p.L104F|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.L104F|TRIM5_uc001mbo.2_Missense_Mutation_p.L104F|TRIM5_uc001mbp.2_Missense_Mutation_p.L104F	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	104	B box-type.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TGACAGAAGAGTAGAAGTTTC	0.552													A	5701098	G	A	5701098	3	1	84	1	0	0	0	0	1	0	0	0	16522	1029	36	4	1438	4	TRIM5	11	5701098	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	226158	5701098	129305418	793	56336											
OR52E8	390079	broad.mit.edu	37	chr11	5878034	5878034	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctctcgaatctgctttgtcCtgactccatagattacagga	7	11	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:5878034C>A	uc010qzr.1	-	1	899	c.899G>T	c.(898-900)AGG>ATG	p.R300M	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCTTTGTCCTGACTCCATA	0.428													A	5878034	C	A	5878034	3	1	84	1	0	0	0	0	1	0	0	0	11118	681	24	5	56	5	OR52E8	11	5878034	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	176936	5878034	129128482	794	56337											
NRIP3	56675	broad.mit.edu	37	chr11	9005620	9005620	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagtggagtcaatcttaccTtcagagatcggagagtctgt	11	7	4	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:9005620T>C	uc001mhg.2	-	5	728	c.614A>G	c.(613-615)AAG>AGG	p.K205R	NRIP3_uc010rbu.1_3'UTR	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	205					proteolysis		aspartic-type endopeptidase activity				0				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		CAATCTTACCTTCAGAGATCG	0.393													C	9005620	T	C	9005620	3	2	84	1	0	0	0	0	1	0	0	0	10654	1623	56	3	123	3	NRIP3	11	9005620	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	3127586	9005620	126000896	795	56338											
SCUBE2	57758	broad.mit.edu	37	chr11	9100944	9100944	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttaccaagacaattatgAccgtcatgagccaacatgaa	6	11	1	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:9100944A>G	uc001mhh.1	-	3	449	c.369T>C	c.(367-369)GGT>GGC	p.G123G	SCUBE2_uc001mhi.1_Silent_p.G123G|SCUBE2_uc001mhj.1_Silent_p.G123G	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	123	EGF-like 2; calcium-binding (Potential).					extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GACAATTATGACCGTCATGAG	0.443													G	9100944	A	G	9100944	2	3	84	1	0	0	0	0	0	0	0	1	13945	262	10	3		3	SCUBE2	11	9100944	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	95324	9100944	125905572	796	56339											
SBF2	81846	broad.mit.edu	37	chr11	9875116	9875116	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaatgaaggctcttgatgTgatcctgagtaactccactc	9	10	1	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:9875116T>C	uc001mib.2	-	20	2645	c.2507A>G	c.(2506-2508)CAC>CGC	p.H836R	SBF2_uc001mif.3_Missense_Mutation_p.H592R|uc001mig.2_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	836					myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GCTCTTGATGTGATCCTGAGT	0.378													C	9875116	T	C	9875116	3	2	84	1	0	0	0	0	1	0	0	0	13859	1696	59	3	3126	3	SBF2	11	9875116	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	774172	9875116	125131400	797	56340											
AMPD3	272	broad.mit.edu	37	chr11	10500145	10500145	+	Frame_Shift_Del	DEL	C	C	-													ccacagcaagattggaagggCcccccggcagccagtccggc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:10500144_10500144GC>G	uc001min.1	+	2	665	c.320_320GC>G	c.(319-321)ggcfs	p.G107fs	AMPD3_uc010rbz.1_Intron|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc009yfx.1_Frame_Shift_Del_p.G98fs|AMPD3_uc001mio.1_Frame_Shift_Del_p.G98fs|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Frame_Shift_Del_p.G105fs|AMPD3_uc009yfy.2_Frame_Shift_Del_p.G98fs	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	98					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GATTGGAAGGGCCCCCCGGCA	0.577													-	10500145	C	-	10500145	7	5	84	1	0	1	0	1	0	0	0	0	587	726	26	0	351	0	AMPD3	11	10500145	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	625029	10500145	124506371	798	56341											
CTR9	9646	broad.mit.edu	37	chr11	10785668	10785668	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttatcccagggccatttgAagaaggtcacagaacagtat	9	8	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:10785668A>G	uc001mja.2	+	10	1353	c.1204A>G	c.(1204-1206)AAG>GAG	p.K402E		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	402					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GGGCCATTTGAAGAAGGTCAC	0.353													G	10785668	A	G	10785668	3	3	84	1	0	0	0	0	1	0	0	0	4024	247	9	3	1242	3	CTR9	11	10785668	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	285523	10785668	124220848	799	56342											
MICAL2	9645	broad.mit.edu	37	chr11	12245002	12245002	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagctggagcactaccctctCgagagactgggctcggtgag	15	11	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:12245002C>T	uc001mjz.2	+	12	1782	c.1494C>T	c.(1492-1494)CTC>CTT	p.L498L	MICAL2_uc010rch.1_Silent_p.L498L|MICAL2_uc001mka.2_Silent_p.L498L|MICAL2_uc010rci.1_Silent_p.L498L|MICAL2_uc001mkb.2_Silent_p.L498L|MICAL2_uc001mkc.2_Silent_p.L498L|MICAL2_uc001mkd.2_Silent_p.L327L|MICAL2_uc010rcj.1_5'UTR	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	498						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		ACTACCCTCTCGAGAGACTGG	0.557													T	12245002	C	T	12245002	2	4	84	1	0	0	0	0	0	0	0	1	9570	871	31	1		1	MICAL2	11	12245002	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1459334	12245002	122761514	800	56343											
COPB1	1315	broad.mit.edu	37	chr11	14498463	14498463	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catttactaaagtaaaacatAcctctccaagggacctgcgg	7	11	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:14498463A>G	uc001mli.2	-	12	1762	c.1455_splice	c.e12+1	p.E485_splice	COPB1_uc001mlg.2_Splice_Site_p.E485_splice|COPB1_uc001mlh.2_Splice_Site_p.E485_splice	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1						COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2						AGTAAAACATACCTCTCCAAG	0.363													G	14498463	A	G	14498463	5	3	84	1	0	0	0	0	0	0	1	0	3728	405	14	3	1448	3	COPB1	11	14498463	Splice_Site	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2253461	14498463	120508053	801	56344											
PDE3B	5140	broad.mit.edu	37	chr11	14865502	14865502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgatggctctatacgtggCagctgccatgcatgattatg	11	8	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:14865502C>T	uc001mln.2	+	12	2803	c.2450C>T	c.(2449-2451)GCA>GTA	p.A817V	PDE3B_uc010rcr.1_Missense_Mutation_p.A766V	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	817	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						CTATACGTGGCAGCTGCCATG	0.413													T	14865502	C	T	14865502	3	4	84	1	0	0	0	0	1	0	0	0	11638	710	25	2	2496	2	PDE3B	11	14865502	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	367039	14865502	120141014	802	56345											
ABCC8	6833	broad.mit.edu	37	chr11	17419241	17419241	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccgctcaccattagggcgTaggtaaggcccaggcccacc	12	15	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:17419241T>C	uc001mnc.2	-	31	3983	c.3857A>G	c.(3856-3858)TAC>TGC	p.Y1286C		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1286	Helical; Name=17; (By similarity).|ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CATTAGGGCGTAGGTAAGGCC	0.627													C	17419241	T	C	17419241	3	2	84	1	0	0	0	0	1	0	0	0	58	1638	57	3	924	3	ABCC8	11	17419241	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	2553739	17419241	117587275	803	56346											
ABCC8	6833	broad.mit.edu	37	chr11	17424231	17424231	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggcccggatggtggtgagTccttctacggtttcggcaaa	14	9	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:17424231T>C	uc001mnc.2	-	29	3753	c.3627A>G	c.(3625-3627)GGA>GGG	p.G1209G		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1209	ABC transmembrane type-1 2.|Cytoplasmic (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGGTGGTGAGTCCTTCTACGG	0.517													C	17424231	T	C	17424231	2	2	84	1	0	0	0	0	0	0	0	1	58	1654	58	3		3	ABCC8	11	17424231	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	4990	17424231	117582285	804	56347											
SPTY2D1	144108	broad.mit.edu	37	chr11	18638501	18638501	+	Frame_Shift_Del	DEL	T	T	-													acacctttaacttttgggtcTttttttggaggccccactgc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:18638500_18638500CT>C	uc001moy.3	-	1	313	c.97_97AG>G	c.(97-99)gacfs	p.D33fs	SPTY2D1_uc010rdi.1_Frame_Shift_Del_p.D33fs	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.	33										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						ACTTTTGGGTCTTTTTTTGGA	0.343													-	18638501	T	-	18638501	7	5	84	1	0	1	0	1	0	0	0	0	15125	1606	56	0	1981	0	SPTY2D1	11	18638501	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	1214270	18638501	116368015	805	56348											
MRGPRX1	259249	broad.mit.edu	37	chr11	18956195	18956195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggagccagagcacaactGcgtttcctgtcagcccgaca	10	15	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:18956195G>A	uc001mpg.2	-	1	355	c.137C>T	c.(136-138)GCA>GTA	p.A46V		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	46	Helical; Name=1; (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3						GAGCACAACTGCGTTTCCTGT	0.582													A	18956195	G	A	18956195	3	1	84	1	0	0	0	0	1	0	0	0	9766	1319	46	2	835	2	MRGPRX1	11	18956195	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	317694	18956195	116050321	806	56349											
PAX6	5080	broad.mit.edu	37	chr11	31812409	31812409	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctggctggggactgggggCtgtgaggagagaggcaaacc	20	7	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:31812409C>T	uc001mtd.3	-	11	1923	c.1033_splice	c.e11-1	p.P345_splice	PAX6_uc001mte.3_Splice_Site_p.P345_splice|PAX6_uc001mtg.3_Splice_Site_p.P359_splice|PAX6_uc001mtf.3_Splice_Site_p.P345_splice|PAX6_uc001mth.3_Splice_Site_p.P345_splice|PAX6_uc009yjr.2_Splice_Site_p.P345_splice	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a						blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					GGACTGGGGGCTGTGAGGAGA	0.587									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				T	31812409	C	T	31812409	5	4	84	1	0	0	0	0	0	0	1	0	11483	811	28	2	244	2	PAX6	11	31812409	Splice_Site	SNP	C	TCGA-BR-8372-01A-11D-2340-08	12856214	31812409	103194107	807	56350											
PAMR1	25891	broad.mit.edu	37	chr11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-													catagaagtcatccaaggtaCccccccatgagccatttcgg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:35513669_35513669AC>A	uc001mwf.3	-	2	346	c.303_303GT>T	c.(301-303)ggtfs	p.G101fs	PAMR1_uc001mwg.3_Frame_Shift_Del_p.G101fs|PAMR1_uc010rew.2_Frame_Shift_Del_p.G101fs|PAMR1_uc010rex.2_Frame_Shift_Del_p.G61fs	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATG	0.522													-	35513670	C	-	35513670	7	5	84	1	0	1	0	1	0	0	0	0	11413	507	18	0	1951	0	PAMR1	11	35513670	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	3701261	35513670	99492846	808	56351											
PRR5L	79899	broad.mit.edu	37	chr11	36458986	36458986	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaccacttcttcactgAgactctccctaccctgcagg	8	16	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:36458986A>T	uc001mwo.3	+	6	793	c.404A>T	c.(403-405)GAG>GTG	p.E135V	PRR5L_uc001mwp.2_Missense_Mutation_p.E135V|PRR5L_uc009ykk.2_Missense_Mutation_p.E54V|PRR5L_uc010rfc.1_Missense_Mutation_p.E135V	NM_001160167	NP_001153639	Q6MZQ0	PRR5L_HUMAN	protor-2 isoform a	135										ovary(1)	1						TTCTTCACTGAGACTCTCCCT	0.498													T	36458986	A	T	36458986	3	4	84	1	0	0	0	0	1	0	0	0	12602	304	11	5	428	5	PRR5L	11	36458986	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	945316	36458986	98547530	809	56352											
C11orf74	119710	broad.mit.edu	37	chr11	36654929	36654929	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaatgaagcagatgacTaccatcttagaaataaaacc	5	7	1	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:36654929T>C	uc001mwy.1	+	3	305	c.232T>C	c.(232-234)TAC>CAC	p.Y78H	C11orf74_uc010rfd.1_RNA|C11orf74_uc001mww.1_Intron|C11orf74_uc001mwx.1_Intron|C11orf74_uc001mwz.1_Intron|C11orf74_uc010rfe.1_RNA	NM_138787	NP_620142	Q86VG3	CK074_HUMAN	hypothetical protein LOC119710	78											0	all_lung(20;0.226)	all_hematologic(20;0.0118)				AGCAGATGACTACCATCTTAG	0.348													C	36654929	T	C	36654929	3	2	84	1	0	0	0	0	1	0	0	0	1662	1522	53	3	238	3	C11orf74	11	36654929	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	195943	36654929	98351587	810	56353											
ALX4	60529	broad.mit.edu	37	chr11	44286581	44286581	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccacgtgactgccagccccAgacacactcaggaagtcggt	10	16	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:44286581A>C	uc001myb.2	-	4	1163	c.1059T>G	c.(1057-1059)TCT>TCG	p.S353S		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	353					hair follicle development						0						TGCCAGCCCCAGACACACTCA	0.687													C	44286581	A	C	44286581	2	2	84	1	0	0	0	0	0	0	0	1	558	175	7	5		5	ALX4	11	44286581	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	7631652	44286581	90719935	811	56354											
CREB3L1	90993	broad.mit.edu	37	chr11	46329501	46329501	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcggccgccatggccaccAccccgctgctgggcctcagc	12	21	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:46329501A>G	uc001ncf.2	+	3	901	c.466A>G	c.(466-468)ACC>GCC	p.T156A		NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like	156	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	soft_tissue(6)|ovary(2)	8				GBM - Glioblastoma multiforme(35;0.0285)		CATGGCCACCACCCCGCTGCT	0.697			T	FUS	myxofibrosarcoma								G	46329501	A	G	46329501	3	3	84	1	0	0	0	0	1	0	0	0	3856	159	6	3	476	3	CREB3L1	11	46329501	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2042920	46329501	88677015	812	56355											
ZNF408	79797	broad.mit.edu	37	chr11	46726476	46726477	+	Frame_Shift_Ins	INS	-	-	C													caccgtggggtgcggcccttINScccctgtccacaatgcgaca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:46726476_46726477insC	uc001nde.1	+	5	1456_1457	c.1226_1227insC	c.(1225-1227)TTCfs	p.F409fs	ZNF408_uc010rgw.1_Frame_Shift_Ins_p.F401fs	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	409	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding				0						GTGCGGCCCTTCCCCTGTCCAC	0.589													C	46726477	-	C	46726476	7	5	84	1	0	1	1	0	0	0	0	0	17885	1783	62	0	1276	0	ZNF408	11	46726476	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	396975	46726476	88280040	813	56356	242	2									
ZNF408	79797	broad.mit.edu	37	chr11	46726477	46726478	+	Frame_Shift_Ins	INS	-	-	C													accgtggggtgcggcccttcINSccctgtccacaatgcgacaa							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:46726476_46726477T>TC	uc001nde.2	+	4	1507_1508	c.1226_1227T>TC	c.(1225-1227)ttcfs	p.F409fs	ZNF408_uc010rgw.2_Frame_Shift_Ins_p.F401fs	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 1, mRNA.	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGCGGCCCTTCCCCTGTCCAC	0.589													C	46726478	-	C	46726477	7	5	84	1	0	1	1	0	0	0	0	0	17885	854	30	0	1277	0	ZNF408	11	46726477	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	1	46726477	88280039	814	56357	242	2									
MADD	8567	broad.mit.edu	37	chr11	47312236	47312236	+	Frame_Shift_Del	DEL	G	G	-													ggatcctggcctagctgggcGgggggacccaaaggctatgg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:47312236delG	uc001ner.1	+	20	3421	c.3230delG	c.(3229-3231)CGGfs	p.R1077fs	MADD_uc001neq.2_Frame_Shift_Del_p.R1057fs|MADD_uc001nev.1_Frame_Shift_Del_p.R1014fs|MADD_uc001nes.1_Frame_Shift_Del_p.R1034fs|MADD_uc001net.1_Frame_Shift_Del_p.R1077fs|MADD_uc009yln.1_Frame_Shift_Del_p.R1014fs|MADD_uc001neu.1_Frame_Shift_Del_p.R1014fs|MADD_uc001nex.2_Frame_Shift_Del_p.R1077fs|MADD_uc001nez.2_Frame_Shift_Del_p.R1014fs|MADD_uc001new.2_Frame_Shift_Del_p.R1057fs|MADD_uc009ylo.2_5'UTR	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	1077					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		CTAGCTGGGCGGGGGGACCCA	0.532													-	47312236	G	-	47312236	7	5	84	1	0	1	0	1	0	0	0	0	9152	1116	39	0	3304	0	MADD	11	47312236	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	585759	47312236	87694280	815	56358											
NUP160	23279	broad.mit.edu	37	chr11	47827804	47827804	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgagagaagaggtgagatAtaatgtgttttcttgcaact	12	4	1	4	rs144790017		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:47827804A>T	uc001ngm.2	-	20	2592	c.2507T>A	c.(2506-2508)ATA>AAA	p.I836K	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	836					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						GAGGTGAGATATAATGTGTTT	0.368													T	47827804	A	T	47827804	3	4	84	1	0	0	0	0	1	0	0	0	10757	449	16	5	1871	5	NUP160	11	47827804	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	515568	47827804	87178712	816	56359											
PTPRJ	5795	broad.mit.edu	37	chr11	48161293	48161293	+	Frame_Shift_Del	DEL	C	C	-													gtcctgtggaaagatggcagCccccacccggaacacctgca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:48161292_48161292GC>G	uc001ngp.4	+	10	2762	c.2407_2407GC>G	c.(2407-2409)gccfs	p.A803fs	PTPRJ_uc010rhr.1_Frame_Shift_Del_p.A248fs	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	803	Fibronectin type-III 8.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AAAGATGGCAGCCCCCACCCG	0.537													-	48161293	C	-	48161293	7	5	84	1	0	1	0	1	0	0	0	0	12804	739	26	0	2459	0	PTPRJ	11	48161293	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	333489	48161293	86845223	817	56360											
OR4X2	119764	broad.mit.edu	37	chr11	48266720	48266720	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagagggtttgctttgtgaTatttctgttcttgtacacag	11	6	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:48266720T>C	uc001ngs.1	+	1	65	c.65T>C	c.(64-66)ATA>ACA	p.I22T		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X,	22	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGCTTTGTGATATTTCTGTTC	0.453													C	48266720	T	C	48266720	3	2	84	1	0	0	0	0	1	0	0	0	11085	1406	49	3	67	3	OR4X2	11	48266720	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	105427	48266720	86739796	818	56361											
OR5D13	390142	broad.mit.edu	37	chr11	55541797	55541797	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccattgatctacagccttaGgaacaaagatatcaataaca	5	10	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:55541797G>T	uc010ril.1	+	1	884	c.884G>T	c.(883-885)AGG>ATG	p.R295M		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	295	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				TACAGCCTTAGGAACAAAGAT	0.348													T	55541797	G	T	55541797	3	4	84	1	0	0	0	0	1	0	0	0	11154	1000	35	5	886	5	OR5D13	11	55541797	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	7275077	55541797	79464719	819	56362											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57070273	57070273	+	Frame_Shift_Del	DEL	G	G	-													ggccctgggagccggagggtGgggggcgggccgggcacctg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:57070273delG	uc001njr.2	-	6	4655	c.4343delC	c.(4342-4344)CCAfs	p.P1448fs	TNKS1BP1_uc001njp.2_Frame_Shift_Del_p.P20fs|TNKS1BP1_uc001njq.2_Frame_Shift_Del_p.P20fs|TNKS1BP1_uc001njs.2_Frame_Shift_Del_p.P1448fs	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1448	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				GCCGGAGGGTGGGGGGCGGGC	0.682													-	57070273	G	-	57070273	7	5	84	1	0	1	0	1	0	0	0	0	16317	1348	47	0	866	0	TNKS1BP1	11	57070273	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	1528476	57070273	77936243	820	56363											
CTNND1	1500	broad.mit.edu	37	chr11	57569589	57569589	+	Frame_Shift_Del	DEL	A	A	-													caggataacaagattgccatAaaaaactgtgatggtgtgcc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:57569589delA	uc001nmc.3	+	7	1912	c.1341delA	c.(1339-1341)ATAfs	p.I447fs	CTNND1_uc001nlh.1_Frame_Shift_Del_p.I447fs|CTNND1_uc001nlu.3_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlt.3_Frame_Shift_Del_p.I346fs|CTNND1_uc001nls.3_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlw.3_Frame_Shift_Del_p.I346fs|CTNND1_uc001nmf.3_Frame_Shift_Del_p.I447fs|CTNND1_uc001nmd.3_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlk.3_Frame_Shift_Del_p.I393fs|CTNND1_uc001nme.3_Frame_Shift_Del_p.I447fs|CTNND1_uc001nll.3_Frame_Shift_Del_p.I393fs|CTNND1_uc001nmg.3_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlj.3_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlr.3_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlp.3_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlx.3_Frame_Shift_Del_p.I124fs|CTNND1_uc001nlz.3_Frame_Shift_Del_p.I124fs|CTNND1_uc009ymn.2_Frame_Shift_Del_p.I124fs|CTNND1_uc001nlm.3_Frame_Shift_Del_p.I447fs|CTNND1_uc001nly.3_Frame_Shift_Del_p.I124fs|CTNND1_uc001nmb.3_Frame_Shift_Del_p.I124fs|CTNND1_uc001nma.3_Frame_Shift_Del_p.I124fs|CTNND1_uc001nmi.3_Frame_Shift_Del_p.I346fs|CTNND1_uc001nmh.3_Frame_Shift_Del_p.I447fs|CTNND1_uc001nlq.3_Frame_Shift_Del_p.I346fs|CTNND1_uc001nln.3_Frame_Shift_Del_p.I447fs|CTNND1_uc001nli.3_Frame_Shift_Del_p.I447fs|CTNND1_uc001nlo.3_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlv.3_Frame_Shift_Del_p.I346fs	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	447	ARM 3.				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)				AGATTGCCATAAAAAACTGTG	0.463													-	57569589	A	-	57569589	7	5	84	1	0	1	0	1	0	0	0	0	4019	352	13	0	1359	0	CTNND1	11	57569589	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	499316	57569589	77436927	821	56364											
OR4D11	219986	broad.mit.edu	37	chr11	59271395	59271395	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggcagacattttttctctctCtgtgatggcgtttgactgct	10	9	2	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:59271395C>G	uc001noa.1	+	1	347	c.347C>G	c.(346-348)TCT>TGT	p.S116C		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	116	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TTTTCTCTCTCTGTGATGGCG	0.488													G	59271395	C	G	59271395	3	3	84	1	0	0	0	0	1	0	0	0	11055	913	32	5	349	5	OR4D11	11	59271395	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1701806	59271395	75735121	822	56365											
GIF	2694	broad.mit.edu	37	chr11	59599272	59599272	+	Splice_Site	DEL	A	A	-													gtcattgtggtttcaaatctAaaaaaaagtttatatatgat							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:59599271_59599271TA>T	uc001noi.3	-	8	1122	c.1074_splice	c.e8-1	p.K358_splice		NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	358					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GTTTCAAATCTAAAAAAAAGT	0.338													-	59599272	A	-	59599272	8	5	84	1	0	1	0	1	0	0	1	0	6376	377	13	0		0	GIF	11	59599272	Splice_Site	DEL	A	TCGA-BR-8372-01A-11D-2340-08	327877	59599272	75407244	823	56366											
MS4A2	2206	broad.mit.edu	37	chr11	59857235	59857235	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagactattgaagtcggccTcatccccaccactgcataca	7	15	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:59857235T>G	uc001nop.2	+	2	229	c.127T>G	c.(127-129)TCA>GCA	p.S43A	MS4A2_uc009ymu.2_Missense_Mutation_p.S43A	NM_000139	NP_000130	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member	43	Cytoplasmic (Potential).				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			ovary(1)	1		all_epithelial(135;0.245)			Omalizumab(DB00043)	GAAGTCGGCCTCATCCCCACC	0.463													G	59857235	T	G	59857235	3	3	84	1	0	0	0	0	1	0	0	0	9860	1551	54	5	133	5	MS4A2	11	59857235	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	257963	59857235	75149281	824	56367											
DDB1	1642	broad.mit.edu	37	chr11	61070097	61070097	+	Frame_Shift_Del	DEL	G	G	-													aagagcaccgagccttgtgtGggggtggaagtctcacccag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:61070096_61070096TG>T	uc001nrc.4	-	23	3296	c.3070_3070CA>A	c.(3070-3072)acafs	p.T1024fs	DDB1_uc010rle.1_Frame_Shift_Del_p.T335fs|DDB1_uc010rlf.1_Frame_Shift_Del_p.T1024fs	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	1024	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGCCTTGTGTGGGGGTGGAA	0.572								Nucleotide excision repair (NER)					-	61070097	G	-	61070097	7	5	84	1	0	1	0	1	0	0	0	0	4323	1335	47	0	369	0	DDB1	11	61070097	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	1212862	61070097	73936419	825	56368											
FTH1	2495	broad.mit.edu	37	chr11	61732984	61732984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatcgcggtcaaagtagtAagactgaaaggggaacactg	12	7	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:61732984A>G	uc001nsu.2	-	2	353	c.118T>C	c.(118-120)TAC>CAC	p.Y40H		NM_002032	NP_002023	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	40	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			ovary(1)	1					Iron Dextran(DB00893)	TCAAAGTAGTAAGACTGAAAG	0.473													G	61732984	A	G	61732984	3	3	84	1	0	0	0	0	1	0	0	0	6082	362	13	3	445	3	FTH1	11	61732984	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	662887	61732984	73273532	826	56369											
TUT1	64852	broad.mit.edu	37	chr11	62348933	62348933	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgctcggcctcggacaActccctcagccccacaagct	8	20	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:62348933A>G	uc001nto.2	-	3	666	c.628T>C	c.(628-630)TTG>CTG	p.L210L		NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	172					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2						GCCTCGGACAACTCCCTCAGC	0.602													G	62348933	A	G	62348933	2	3	84	1	0	0	0	0	0	0	0	1	16777	40	2	3		3	TUT1	11	62348933	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	615949	62348933	72657583	827	56370											
GANAB	23193	broad.mit.edu	37	chr11	62393815	62393815	+	Frame_Shift_Del	DEL	A	A	-													gtgacccattacctggagacAagggtgttgccagagaatga							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:62393814_62393814CA>C	uc001nua.3	-	22	2716	c.2683_2683TG>G	c.(2683-2685)gtcfs	p.V895fs	GANAB_uc001nub.3_Frame_Shift_Del_p.V873fs|GANAB_uc001nuc.3_Frame_Shift_Del_p.V776fs|GANAB_uc010rma.2_Frame_Shift_Del_p.V781fs|GANAB_uc010rmb.2_Frame_Shift_Del_p.V759fs	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	873					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TACCTGGAGACAAGGGTGTTG	0.532													-	62393815	A	-	62393815	7	5	84	1	0	1	0	1	0	0	0	0	6233	117	5	0	230	0	GANAB	11	62393815	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	44882	62393815	72612701	828	56371											
HRASLS5	117245	broad.mit.edu	37	chr11	63233754	63233754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttattgaccttccaggagCagccatgcagcacatcctcc	8	14	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:63233754C>T	uc001nwy.2	-	5	749	c.575G>A	c.(574-576)TGC>TAC	p.C192Y	HRASLS5_uc001nwz.2_Missense_Mutation_p.C182Y|HRASLS5_uc010rmq.1_Missense_Mutation_p.C192Y|HRASLS5_uc009yos.2_RNA	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5 isoform 1	192										ovary(1)	1						CTTCCAGGAGCAGCCATGCAG	0.517													T	63233754	C	T	63233754	3	4	84	1	0	0	0	0	1	0	0	0	7351	710	25	2	272	2	HRASLS5	11	63233754	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	839939	63233754	71772762	829	56372											
RTN3	10313	broad.mit.edu	37	chr11	63486576	63486576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctaaaactgcattggatgCtgatgacagattcactttgc	10	8	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:63486576C>T	uc001nxq.2	+	3	789	c.602C>T	c.(601-603)GCT>GTT	p.A201V	RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Missense_Mutation_p.A182V|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Missense_Mutation_p.A89V|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	201					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1						GCATTGGATGCTGATGACAGA	0.403													T	63486576	C	T	63486576	3	4	84	1	0	0	0	0	1	0	0	0	13727	797	28	2	612	2	RTN3	11	63486576	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	252822	63486576	71519940	830	56373											
RCOR2	283248	broad.mit.edu	37	chr11	63681570	63681570	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggttcgcaagggatggtgGcggtactgagacacctggac	17	9	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:63681570G>A	uc001nyc.2	-	8	1135	c.747C>T	c.(745-747)CGC>CGT	p.R249R		NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)|skin(1)	2						AGGGATGGTGGCGGTACTGAG	0.637													A	63681570	G	A	63681570	2	1	84	1	0	0	0	0	0	0	0	1	13183	1190	42	2		2	RCOR2	11	63681570	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	194994	63681570	71324946	831	56374											
CDC42BPG	55561	broad.mit.edu	37	chr11	64606559	64606559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggactcagcatagaagggCgtctccccaaagagcagctc	11	12	2	2	rs56393929		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:64606559C>T	uc001obs.3	-	7	822	c.822G>A	c.(820-822)ACG>ACA	p.T274T		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	274	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						CATAGAAGGGCGTCTCCCCAA	0.612													T	64606559	C	T	64606559	2	4	84	1	0	0	0	0	0	0	0	1	3074	755	27	1		1	CDC42BPG	11	64606559	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	924989	64606559	70399957	832	56375											
ATG2A	23130	broad.mit.edu	37	chr11	64662521	64662521	+	Frame_Shift_Del	DEL	C	C	-													ggacaatctggttgcgcatgCccccgagcaggctggacgtg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:64662520_64662520GC>G	uc001obx.3	-	40	5857	c.5742_5742GC>C	c.(5740-5742)ggcfs	p.G1914fs	AB429224_uc009ypx.3_5'Flank|ATG2A_uc001obw.3_Frame_Shift_Del_p.G679fs	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1914							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGTTGCGCATGCCCCCGAGCA	0.711													-	64662521	C	-	64662521	7	5	84	1	0	1	0	1	0	0	0	0	1093	739	26	0	79	0	ATG2A	11	64662521	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	55962	64662521	70343995	833	56376											
ATG2A	23130	broad.mit.edu	37	chr11	64677288	64677288	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacggcctggcccgcccaggGgtccggctcaggccgcaggt	16	17	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:64677288G>T	uc001obx.2	-	14	2087	c.1972C>A	c.(1972-1974)CCC>ACC	p.P658T		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	658							protein binding			ovary(1)|central_nervous_system(1)	2						CCCGCCCAGGGGTCCGGCTCA	0.711													T	64677288	G	T	64677288	3	4	84	1	0	0	0	0	1	0	0	0	1093	1232	43	5	3956	5	ATG2A	11	64677288	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	14767	64677288	70329228	834	56377											
PPP2R5B	5526	broad.mit.edu	37	chr11	64693222	64693222	+	Frame_Shift_Del	DEL	C	C	-													ccgccatggagacgaagctgCcccctgcaagcacccccact							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:64693222delC	uc001oby.2	+	2	601	c.16delC	c.(16-18)CCCfs	p.P6fs	PPP2R5B_uc001obz.2_Frame_Shift_Del_p.P6fs	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	6					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2						GACGAAGCTGCCCCCTGCAAG	0.687													-	64693222	C	-	64693222	7	5	84	1	0	1	0	1	0	0	0	0	12393	739	26	0	18	0	PPP2R5B	11	64693222	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	15934	64693222	70313294	835	56378											
SYVN1	84447	broad.mit.edu	37	chr11	64897506	64897508	+	In_Frame_Del	DEL	GGA	GGA	-													gcaggggcatacccatccagGgaggagggaaggggaaacca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:64897506_64897508delGGA	uc001odb.2	-	13	1468_1470	c.1374_1376delTCC	c.(1372-1377)CCTCCC>CCC	p.458_459PP>P	SYVN1_uc001odc.2_In_Frame_Del_p.457_458PP>P|SYVN1_uc009yqc.2_In_Frame_Del_p.406_407PP>P	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	synoviolin 1 isoform b	458_459	Pro-rich.|Cytoplasmic (Potential).				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(1)	1						ACCCATCCAGGGAGGAGGGAAGG	0.645													-	64897508	GGA	-	64897506	7	5	84	1	0	1	0	1	0	0	0	0	15484	1232	43	0	493	0	SYVN1	11	64897506	In_Frame_Del	DEL	GGA	TCGA-BR-8372-01A-11D-2340-08	204284	64897506	70109010	836	56379											
EHBP1L1	254102	broad.mit.edu	37	chr11	65349955	65349955	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggacactagaaattgagatAttgggggccttggagaaaga	14	4	0	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:65349955A>G	uc001oeo.3	+	9	2077	c.1812A>G	c.(1810-1812)ATA>ATG	p.I604M	EHBP1L1_uc001oep.1_Intron	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	604	Glu-rich.									central_nervous_system(1)	1						AAATTGAGATATTGGGGGCCT	0.537													G	65349955	A	G	65349955	3	3	84	1	0	0	0	0	1	0	0	0	4976	439	16	3	1846	3	EHBP1L1	11	65349955	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	452449	65349955	69656561	837	56380											
PCNXL3	399909	broad.mit.edu	37	chr11	65404014	65404014	+	Frame_Shift_Del	DEL	C	C	-													cgcctatccccacagagggtCcccggacctcacggccccct							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:65404013_65404013TC>T	uc001oey.2	+	33	5745	c.5745_5745TC>T	c.(5743-5745)ggtfs	p.G1915fs	PCNXL3_uc001oez.2_Frame_Shift_Del_p.G802fs	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1915	Gly-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCACAGAGGGTCCCCGGACCT	0.711													-	65404014	C	-	65404014	7	5	84	1	0	1	0	1	0	0	0	0	11593	855	30	0	5880	0	PCNXL3	11	65404014	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	54059	65404014	69602502	838	56381											
RELA	5970	broad.mit.edu	37	chr11	65425862	65425862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctgcaggctggggtctGcgtagggaggggtccggaac	20	9	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:65425862G>A	uc001ofg.2	-	8	913	c.773C>T	c.(772-774)GCA>GTA	p.A258V	RELA_uc001ofh.2_Missense_Mutation_p.A255V|RELA_uc010ron.1_Missense_Mutation_p.A269V|RELA_uc009yqr.2_Missense_Mutation_p.A205V|RELA_uc001ofe.2_Missense_Mutation_p.A258V|RELA_uc001off.2_Missense_Mutation_p.A258V|RELA_uc009yqs.1_Intron	NM_021975	NP_068810	Q04206	TF65_HUMAN	v-rel reticuloendotheliosis viral oncogene	258	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			lung(3)|ovary(1)	4						GCTGGGGTCTGCGTAGGGAGG	0.627													A	65425862	G	A	65425862	3	1	84	1	0	0	0	0	1	0	0	0	13216	1319	46	2	898	2	RELA	11	65425862	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	21848	65425862	69580654	839	56382											
EFEMP2	30008	broad.mit.edu	37	chr11	65637334	65637336	+	In_Frame_Del	DEL	AGG	AGG	-													gatggagctctcaccactgcAggagaagccatcccgatgca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:65637334_65637336delAGG	uc001ofy.3	-	7	913_915	c.719_721delCCT	c.(718-723)TCCTGC>TGC	p.S240del	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_In_Frame_Del_p.S240del	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	240	EGF-like 4; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		TCACCACTGCAGGAGAAGCCATC	0.611													-	65637336	AGG	-	65637334	7	5	84	1	0	1	0	1	0	0	0	0	4942	188	7	0	630	0	EFEMP2	11	65637334	In_Frame_Del	DEL	AGG	TCGA-BR-8372-01A-11D-2340-08	211472	65637334	69369182	840	56383											
GAL3ST3	89792	broad.mit.edu	37	chr11	65810644	65810644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgcgctcattgtcgccGcccaggtcgtaggccagcgt	15	14	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:65810644G>A	uc001ogv.2	-	2	790	c.630C>T	c.(628-630)GGC>GGT	p.G210G	GAL3ST3_uc001ogw.2_Silent_p.G210G	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	210	Lumenal (Potential).				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(1)	1						CATTGTCGCCGCCCAGGTCGT	0.677													A	65810644	G	A	65810644	2	1	84	1	0	0	0	0	0	0	0	1	6199	1074	38	1		1	GAL3ST3	11	65810644	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	173310	65810644	69195872	841	56384											
PACS1	55690	broad.mit.edu	37	chr11	66002804	66002804	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcagggcgggtgatgcagTacgtcaacggggcagccacg	18	10	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:66002804T>C	uc001oha.1	+	18	2271	c.2137T>C	c.(2137-2139)TAC>CAC	p.Y713H	PACS1_uc010rou.1_Missense_Mutation_p.Y249H	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	713					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding			ovary(6)	6						GGTGATGCAGTACGTCAACGG	0.547													C	66002804	T	C	66002804	3	2	84	1	0	0	0	0	1	0	0	0	11372	1638	57	3	2207	3	PACS1	11	66002804	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	192160	66002804	69003712	842	56385											
KLC2	64837	broad.mit.edu	37	chr11	66026206	66026206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctggttgcacctgaggcCggcgaagccgagcctggctc	14	15	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:66026206C>T	uc010rov.1	+	2	384	c.141C>T	c.(139-141)GCC>GCT	p.A47A	KLC2_uc010row.1_Silent_p.A47A|KLC2_uc009yra.2_Silent_p.A47A|KLC2_uc001ohb.2_Silent_p.A47A|KLC2_uc010rox.1_Silent_p.A47A|KLC2_uc001ohc.2_Silent_p.A47A|KLC2_uc001ohd.2_Silent_p.A47A|KLC2_uc001ohe.1_5'Flank	NM_001134775	NP_001128247	Q9H0B6	KLC2_HUMAN	kinesin light chain 2 isoform 1	47					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0						CACCTGAGGCCGGCGAAGCCG	0.657											OREG0021097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	66026206	C	T	66026206	2	4	84	1	0	0	0	0	0	0	0	1	8334	639	23	1		1	KLC2	11	66026206	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	23402	66026206	68980310	843	56386											
CCDC87	55231	broad.mit.edu	37	chr11	66360309	66360309	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcttggccacctggcTgcacagcgacgccaccgtca	11	17	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:66360309T>C	uc001oiq.3	-	1	246	c.178A>G	c.(178-180)AGC>GGC	p.S60G	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	60										ovary(1)|skin(1)	2						GCCACCTGGCTGCACAGCGAC	0.662											OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	66360309	T	C	66360309	3	2	84	1	0	0	0	0	1	0	0	0	2862	1580	55	3	2375	3	CCDC87	11	66360309	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	334103	66360309	68646207	844	56387											
PC	5091	broad.mit.edu	37	chr11	66618281	66618281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccagcatggctgccacGcctgcccctgacgtgtcgtg	13	16	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:66618281G>A	uc001ojn.1	-	16	2386	c.2337C>T	c.(2335-2337)GGC>GGT	p.G779G	PC_uc001ojo.1_Silent_p.G779G|PC_uc001ojp.1_Silent_p.G779G|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	779	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TGGCTGCCACGCCTGCCCCTG	0.657													A	66618281	G	A	66618281	2	1	84	1	0	0	0	0	0	0	0	1	11497	1074	38	1		1	PC	11	66618281	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	257972	66618281	68388235	845	56388											
RPS6KB2	6199	broad.mit.edu	37	chr11	67196696	67196696	+	Frame_Shift_Del	DEL	G	G	-													ctgctgcgtgtgctgggcaaGgggggctatggcaaggtagg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:67196695_67196695AG>A	uc001old.3	+	2	306	c.224_224AG>A	c.(223-225)aagfs	p.K75fs		NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 70kDa, polypeptide 2 (RPS6KB2), mRNA.	75	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GTGCTGGGCAAGGGGGGCTAT	0.602													-	67196696	G	-	67196696	7	5	84	1	0	1	0	1	0	0	0	0	13657	991	35	0	235	0	RPS6KB2	11	67196696	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	578415	67196696	67809820	846	56389											
RPS6KB2	6199	broad.mit.edu	37	chr11	67200863	67200863	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggataagatcatcagggGcaagctggcactgcccccct	11	13	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:67200863G>T	uc001old.2	+	10	933	c.851G>T	c.(850-852)GGC>GTC	p.G284V	RPS6KB2_uc001olf.2_Missense_Mutation_p.G84V|RPS6KB2_uc001olg.2_Missense_Mutation_p.G284V|RPS6KB2_uc009yrq.2_Missense_Mutation_p.G84V|RPS6KB2_uc001ole.2_RNA|RPS6KB2_uc001olh.2_Intron|RPS6KB2_uc009yrr.2_Missense_Mutation_p.G115V	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	284	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)|salivary_gland(1)	7			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			ATCATCAGGGGCAAGCTGGCA	0.617													T	67200863	G	T	67200863	3	4	84	1	0	0	0	0	1	0	0	0	13657	1203	42	5	889	5	RPS6KB2	11	67200863	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	4167	67200863	67805653	847	56390											
UNC93B1	81622	broad.mit.edu	37	chr11	67766651	67766651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtggcactcacatggaagaAgctgtagaagatggcttgga	14	7	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:67766651A>G	uc001omw.1	-	5	759	c.679T>C	c.(679-681)TTC>CTC	p.F227L		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1	227	Helical; (Potential).				innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome					0						ACATGGAAGAAGCTGTAGAAG	0.602													G	67766651	A	G	67766651	3	3	84	1	0	0	0	0	1	0	0	0	16994	72	3	3	1141	3	UNC93B1	11	67766651	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	565788	67766651	67239865	848	56391											
ANO1	55107	broad.mit.edu	37	chr11	70028683	70028683	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtacagtaagaacgggaccAtgcacggcttcgtcaaccac	10	12	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:70028683A>G	uc001opj.2	+	24	2784	c.2479A>G	c.(2479-2481)ATG>GTG	p.M827V	ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.M536V|ANO1_uc010rql.1_Missense_Mutation_p.M1V	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	827	Extracellular (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						GAACGGGACCATGCACGGCTT	0.592													G	70028683	A	G	70028683	3	3	84	1	0	0	0	0	1	0	0	0	695	217	8	3	2573	3	ANO1	11	70028683	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2262032	70028683	64977833	849	56392											
P2RY2	5029	broad.mit.edu	37	chr11	72945484	72945484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgctggtctattactacGcccgcggcgaccactggccc	11	17	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:72945484G>A	uc001otj.2	+	3	613	c.280G>A	c.(280-282)GCC>ACC	p.A94T	P2RY2_uc001otk.2_Missense_Mutation_p.A94T|P2RY2_uc001otl.2_Missense_Mutation_p.A94T	NM_002564	NP_002555	P41231	P2RY2_HUMAN	purinergic receptor P2Y2	94	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(1)|skin(1)	4					Suramin(DB04786)	CTATTACTACGCCCGCGGCGA	0.582													A	72945484	G	A	72945484	3	1	84	1	0	0	0	0	1	0	0	0	11352	1087	38	1	282	1	P2RY2	11	72945484	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	2916801	72945484	62061032	850	56393											
C2CD3	26005	broad.mit.edu	37	chr11	73806439	73806439	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctccatcagtccattTcctcggtcctctgcctatta	6	15	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:73806439T>C	uc001ouu.2	-	17	3221	c.2994A>G	c.(2992-2994)GGA>GGG	p.G998G		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	998						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					TCAGTCCATTTCCTCGGTCCT	0.428													C	73806439	T	C	73806439	2	2	84	1	0	0	0	0	0	0	0	1	2154	1770	62	3		3	C2CD3	11	73806439	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	860955	73806439	61200077	851	56394											
B3GNT6	192134	broad.mit.edu	37	chr11	76750860	76750860	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgagcagctgcccgcgcgcAtccaggacttcctgcggtac	12	16	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:76750860A>G	uc001oxw.2	+	2	353	c.265A>G	c.(265-267)ATC>GTC	p.I89V		NM_138706	NP_619651	Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal	89	Lumenal (Potential).				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity				0						GCCCGCGCGCATCCAGGACTT	0.746													G	76750860	A	G	76750860	3	3	84	1	0	0	0	0	1	0	0	0	1261	217	8	3	267	3	B3GNT6	11	76750860	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2944421	76750860	58255656	852	56395											
USP35	57558	broad.mit.edu	37	chr11	77920856	77920857	+	Frame_Shift_Ins	INS	-	-	C													cactgcatcacagaggacacINScccccccaccagcctgtaca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:77920855_77920856A>AC	uc021qny.1	+	9	2310_2311	c.1954_1955A>AC	c.(1954-1956)accfs	p.T652fs	USP35_uc001oze.2_Frame_Shift_Ins_p.T408fs|USP35_uc001ozc.3_Frame_Shift_Ins_p.T220fs|USP35_uc010rsp.2_Frame_Shift_Ins_p.T84fs|USP35_uc001ozd.3_Frame_Shift_Ins_p.T263fs|USP35_uc001ozf.3_Frame_Shift_Ins_p.T383fs	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	652					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CACAGAGGACACCCCCCCCACC	0.609													C	77920857	-	C	77920856	7	5	84	1	0	1	1	0	0	0	0	0	17063	507	18	0	1989	0	USP35	11	77920856	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	1169996	77920856	57085660	853	56396											
ODZ4	26011	broad.mit.edu	37	chr11	78369151	78369151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaagtggatgttgttggcGctgtctgacagttctgggta	15	5	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:78369151G>A	uc001ozl.3	-	34	8725	c.8262C>T	c.(8260-8262)AGC>AGT	p.S2754S	ODZ4_uc001ozk.3_Silent_p.S979S|ODZ4_uc009yvb.1_Intron	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2754	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						TGTTGTTGGCGCTGTCTGACA	0.567													A	78369151	G	A	78369151	2	1	84	1	0	0	0	0	0	0	0	1	10837	1078	38	1		1	ODZ4	11	78369151	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	448295	78369151	56637365	854	56397											
CTSC	1075	broad.mit.edu	37	chr11	88068108	88068108	+	Frame_Shift_Del	DEL	A	A	-													cttccaacaaaactaaccttAaaaaaggcaaaccacttgta							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:88068108delA	uc001pck.3	-	2	416	c.315delT	c.(313-315)TTTfs	p.F105fs	CTSC_uc001pcl.3_5'UTR|CTSC_uc001pcm.3_Frame_Shift_Del_p.F105fs|CTSC_uc001pcn.3_Frame_Shift_Del_p.F105fs	NM_001814	NP_001805	P53634	CATC_HUMAN	cathepsin C isoform a preproprotein	105					immune response	lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AACTAACCTTAAAAAAGGCAA	0.338													-	88068108	A	-	88068108	7	5	84	1	0	1	0	1	0	0	0	0	4031	359	13	0	1231	0	CTSC	11	88068108	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	9698957	88068108	46938408	855	56398											
SESN3	143686	broad.mit.edu	37	chr11	94918548	94918548	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatctctctctggattgaTaccactaccaaaaacaaagc	6	11	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:94918548T>C	uc001pfk.1	-	5	856	c.634A>G	c.(634-636)ATC>GTC	p.I212V	SESN3_uc010rug.1_Missense_Mutation_p.I73V|SESN3_uc001pfl.2_Missense_Mutation_p.I212V	NM_144665	NP_653266	P58005	SESN3_HUMAN	sestrin 3	212					cell cycle arrest	nucleus					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TCTGGATTGATACCACTACCA	0.408													C	94918548	T	C	94918548	3	2	84	1	0	0	0	0	1	0	0	0	14126	1406	49	3	868	3	SESN3	11	94918548	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	6850440	94918548	40087968	856	56399											
PGR	5241	broad.mit.edu	37	chr11	100999009	100999009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccttggggaccagggcgaCgcctcctgctgccgcccccg	13	18	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:100999009C>T	uc001pgh.2	-	1	1536	c.793G>A	c.(793-795)GTC>ATC	p.V265I	PGR_uc001pgi.2_Missense_Mutation_p.V265I|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	265	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	ACCAGGGCGACGCCTCCTGCT	0.751													T	100999009	C	T	100999009	3	4	84	1	0	0	0	0	1	0	0	0	11805	536	19	1	2040	1	PGR	11	100999009	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	6080461	100999009	34007507	857	56400											
DYNC2H1	79659	broad.mit.edu	37	chr11	103178458	103178458	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtaaacaaggaattgaaTactcttcaacctaaagatac	5	7	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:103178458T>C	uc001pho.2	+	78	11535	c.11391T>C	c.(11389-11391)AAT>AAC	p.N3797N	DYNC2H1_uc001phn.1_Silent_p.N3804N|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3797	AAA 6 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGGAATTGAATACTCTTCAAC	0.279													C	103178458	T	C	103178458	2	2	84	1	0	0	0	0	0	0	0	1	4846	1403	49	3		3	DYNC2H1	11	103178458	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	2179449	103178458	31828058	858	56401											
SLC35F2	54733	broad.mit.edu	37	chr11	107676145	107676145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctaaaaactcctgtctgCtcagcttcttcacgatgtat	5	12	4	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:107676145C>T	uc001pjq.2	-	5	1092	c.671G>A	c.(670-672)AGC>AAC	p.S224N	SLC35F2_uc010rvu.1_Missense_Mutation_p.S76N|SLC35F2_uc001pjs.2_3'UTR	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	224					transport	integral to membrane				central_nervous_system(1)	1		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		CTCCTGTCTGCTCAGCTTCTT	0.403													T	107676145	C	T	107676145	3	4	84	1	0	0	0	0	1	0	0	0	14589	797	28	2	469	2	SLC35F2	11	107676145	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	4497687	107676145	27330371	859	56402											
PPP2R1B	5519	broad.mit.edu	37	chr11	111612831	111612831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgtcttcatcttgacctaActtctgtagtactggcttca	6	11	5	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:111612831A>G	uc001plx.1	-	14	1819	c.1735T>C	c.(1735-1737)TTA>CTA	p.L579L	PPP2R1B_uc001plw.1_Silent_p.L579L|PPP2R1B_uc010rwi.1_Silent_p.L515L|PPP2R1B_uc010rwj.1_Silent_p.L418L|PPP2R1B_uc010rwk.1_Silent_p.L534L|PPP2R1B_uc010rwl.1_Silent_p.L452L	NM_002716	NP_002707	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	579	HEAT 15.						protein binding				0		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TCTTGACCTAACTTCTGTAGT	0.393													G	111612831	A	G	111612831	2	3	84	1	0	0	0	0	0	0	0	1	12383	40	2	3		3	PPP2R1B	11	111612831	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	3936686	111612831	23393685	860	56403											
C11orf52	91894	broad.mit.edu	37	chr11	111796714	111796714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaggacatacgtatgaaCgggtgttacagcagcaaggg	13	8	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:111796714C>T	uc001pmh.2	+	5	646	c.163C>T	c.(163-165)CGG>TGG	p.R55W	C11orf52_uc001pmi.2_Missense_Mutation_p.R55W	NM_080659	NP_542390	Q96A22	CK052_HUMAN	hypothetical protein LOC91894	55										ovary(1)	1		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		TACGTATGAACGGGTGTTACA	0.517													T	111796714	C	T	111796714	3	4	84	1	0	0	0	0	1	0	0	0	1647	527	19	1	177	1	C11orf52	11	111796714	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	183883	111796714	23209802	861	56404											
DSCAML1	57453	broad.mit.edu	37	chr11	117374594	117374594	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacatggacttgctgatgtcGgtgcctacgccgttgctggc	13	11	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:117374594G>T	uc001prh.1	-	11	2507	c.2505C>A	c.(2503-2505)ACC>ACA	p.T835T		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	775	Extracellular (Potential).|Ig-like C2-type 8.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGCTGATGTCGGTGCCTACGC	0.612													T	117374594	G	T	117374594	2	4	84	1	0	0	0	0	0	0	0	1	4769	1103	39	5		5	DSCAML1	11	117374594	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	5577880	117374594	17631922	862	56405											
VPS11	55823	broad.mit.edu	37	chr11	118947751	118947751	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accctgctcctcaactgctaTaccaagctcaaggacagctc	6	16	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:118947751T>C	uc010ryx.1	+	9	1425	c.1383T>C	c.(1381-1383)TAT>TAC	p.Y461Y	VPS11_uc010ryy.1_Silent_p.Y307Y	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	461	Clathrin.				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TCAACTGCTATACCAAGCTCA	0.577													C	118947751	T	C	118947751	2	2	84	1	0	0	0	0	0	0	0	1	17185	1413	49	3		3	VPS11	11	118947751	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1573157	118947751	16058765	863	56406											
C11orf63	79864	broad.mit.edu	37	chr11	122775058	122775058	+	Frame_Shift_Del	DEL	A	A	-													atccaaacaacattttgtggAaaaaaacaagctcactttgg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:122775057_122775057GA>G	uc001pym.3	+	2	1066	c.769_769GA>G	c.(769-771)gaafs	p.E257fs	C11orf63_uc001pyl.1_Frame_Shift_Del_p.E257fs	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	257										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ACATTTTGTGGAAAAAAACAA	0.463													-	122775058	A	-	122775058	7	5	84	1	0	1	0	1	0	0	0	0	1654	246	9	0	776	0	C11orf63	11	122775058	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	3827307	122775058	12231458	864	56407											
OR10G8	219869	broad.mit.edu	37	chr11	123900397	123900397	+	Frame_Shift_Del	DEL	C	C	-													ccatgccccagcgctggacgCccccctctttggagtcttcc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:123900397delC	uc001pzp.1	+	1	68	c.68delC	c.(67-69)GCCfs	p.A23fs		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	23	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCGCTGGACGCCCCCCTCTTT	0.592													-	123900397	C	-	123900397	7	5	84	1	0	1	0	1	0	0	0	0	10903	739	26	0	70	0	OR10G8	11	123900397	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	1125339	123900397	11106119	865	56408											
OR8B4	283162	broad.mit.edu	37	chr11	124294529	124294529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaagtcattcagcattTtgggggtaaacacacaggaa	9	7	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:124294529T>C	uc010sak.1	-	1	239	c.239A>G	c.(238-240)AAA>AGA	p.K80R		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	80	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ATTCAGCATTTTGGGGGTAAA	0.378													C	124294529	T	C	124294529	3	2	84	1	0	0	0	0	1	0	0	0	11229	1841	64	3	692	3	OR8B4	11	124294529	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	394132	124294529	10711987	866	56409											
SPA17	53340	broad.mit.edu	37	chr11	124561622	124561622	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctgagaaaagtgatcctAaacaagaagagtctcagata	8	8	1	5			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:124561622A>C	uc001qap.2	+	4	392	c.256A>C	c.(256-258)AAA>CAA	p.K86Q		NM_017425	NP_059121	Q15506	SP17_HUMAN	sperm autoantigenic protein 17	86					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		AAGTGATCCTAAACAAGAAGA	0.388													C	124561622	A	C	124561622	3	2	84	1	0	0	0	0	1	0	0	0	14971	363	13	5	266	5	SPA17	11	124561622	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	267093	124561622	10444894	867	56410											
CDON	50937	broad.mit.edu	37	chr11	125887121	125887121	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttctccagttgcttcctgGtgcaatgtcctgcccgtcct	8	16	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:125887121G>T	uc009zbw.2	-	6	918	c.790C>A	c.(790-792)CCA>ACA	p.P264T	CDON_uc001qdc.3_Missense_Mutation_p.P264T|CDON_uc001qdd.3_RNA|CDON_uc009zbx.2_Missense_Mutation_p.P264T	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	264	Extracellular (Potential).|Ig-like C2-type 3.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TTGCTTCCTGGTGCAATGTCC	0.532													T	125887121	G	T	125887121	3	4	84	1	0	0	0	0	1	0	0	0	3170	1261	44	5	3064	5	CDON	11	125887121	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1325499	125887121	9119395	868	56411											
FOXRED1	55572	broad.mit.edu	37	chr11	126145767	126145767	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggatccatgaagtccatgTaagtttctagtctgtgatgt	10	6	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:126145767T>C	uc001qdi.2	+	7	857	c.810_splice	c.e7+2	p.H270_splice	FOXRED1_uc010sbn.1_Splice_Site_p.H100_splice|FOXRED1_uc010sbo.1_Splice_Site|FOXRED1_uc010sbp.1_Splice_Site_p.H83_splice|FOXRED1_uc010sbq.1_Splice_Site_p.H137_splice|FOXRED1_uc001qdj.2_Splice_Site_p.H59_splice|FOXRED1_uc010sbr.1_Splice_Site_p.H256_splice|FOXRED1_uc001qdk.2_Splice_Site_p.H59_splice	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing							integral to membrane|mitochondrion	oxidoreductase activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		GAAGTCCATGTAAGTTTCTAG	0.373													C	126145767	T	C	126145767	5	2	84	1	0	0	0	0	0	0	1	0	6033	1652	57	3	838	3	FOXRED1	11	126145767	Splice_Site	SNP	T	TCGA-BR-8372-01A-11D-2340-08	258646	126145767	8860749	869	56412											
ARHGAP32	9743	broad.mit.edu	37	chr11	128840436	128840436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggagtggtgtccagatgCgtttcttcctggggccacat	13	10	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:128840436C>T	uc009zcp.2	-	22	4630	c.4630G>A	c.(4630-4632)GCA>ACA	p.A1544T	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.A503T|ARHGAP32_uc001qez.2_Missense_Mutation_p.A1195T	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1544	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						TGTCCAGATGCGTTTCTTCCT	0.517													T	128840436	C	T	128840436	3	4	84	1	0	0	0	0	1	0	0	0	881	768	27	1	1637	1	ARHGAP32	11	128840436	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2694669	128840436	6166080	870	56413											
NFRKB	4798	broad.mit.edu	37	chr11	129739494	129739494	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagccccagaagccacagcTacagtcttggacacagcagc	10	15	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:129739494T>C	uc001qfi.2	-	24	3627	c.3426A>G	c.(3424-3426)GTA>GTG	p.V1142V	NFRKB_uc001qfg.2_Silent_p.V1167V|NFRKB_uc001qfh.2_Silent_p.V1165V|NFRKB_uc010sbw.1_Silent_p.V1152V|NFRKB_uc009zcr.2_Silent_p.V428V	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1142					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		AAGCCACAGCTACAGTCTTGG	0.622													C	129739494	T	C	129739494	2	2	84	1	0	0	0	0	0	0	0	1	10384	1509	53	3		3	NFRKB	11	129739494	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	899058	129739494	5267022	871	56414											
JAM3	83700	broad.mit.edu	37	chr11	134010644	134010644	+	Frame_Shift_Del	DEL	T	T	-													atgaacaaaccacatatgtgTtttttgacaacaaaattcag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:134010643_134010643GT>G	uc001qhb.2	+	2	393	c.369_369GT>G	c.(367-369)gtgfs	p.V123fs	JAM3_uc009zcz.2_Frame_Shift_Del_p.V78fs	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	Homo sapiens junctional adhesion molecule 3 (JAM3), transcript variant 1, mRNA.	78	Ig-like V-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		CCACATATGTGTTTTTTGACA	0.448													-	134010644	T	-	134010644	7	5	84	1	0	1	0	1	0	0	0	0	7944	1725	60	0	380	0	JAM3	11	134010644	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	4271150	134010644	995872	872	56415											
EFCAB4B	84766	broad.mit.edu	37	chr12	3788146	3788146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgggcttcctcatcttcGcccatgtcgcccagatcctc	7	17	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:3788146G>A	uc001qmj.2	-	6	1031	c.459C>T	c.(457-459)GGC>GGT	p.G153G	EFCAB4B_uc010sen.1_Silent_p.G153G|EFCAB4B_uc010seo.1_Silent_p.G153G	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B isoform c	153					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CCTCATCTTCGCCCATGTCGC	0.527													A	3788146	G	A	3788146	2	1	84	1	0	0	0	0	0	0	0	1	4937	1074	38	1		1	EFCAB4B	12	3788146	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08		3788146	130063749	873	56416											
KCNA6	3742	broad.mit.edu	37	chr12	4919441	4919441	+	Frame_Shift_Del	DEL	C	C	-													cggcgagtccgcttcttcgaCcccctgaggaacgagtactt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:4919441delC	uc001qng.2	+	1	1100	c.234delC	c.(232-234)GACfs	p.D78fs		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	78						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						GCTTCTTCGACCCCCTGAGGA	0.632										HNSCC(72;0.22)			-	4919441	C	-	4919441	7	5	84	1	0	1	0	1	0	0	0	0	8007	506	18	0	236	0	KCNA6	12	4919441	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	1131295	4919441	128932454	874	56417											
ANO2	57101	broad.mit.edu	37	chr12	5708775	5708775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggtctcatctttcagctttCgaaatagtttctttagcttc	6	10	4	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:5708775C>T	uc001qnm.2	-	21	2180	c.2108G>A	c.(2107-2109)CGA>CAA	p.R703Q		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	708	Extracellular (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						TTTCAGCTTTCGAAATAGTTT	0.423													T	5708775	C	T	5708775	3	4	84	1	0	0	0	0	1	0	0	0	697	884	31	1	912	1	ANO2	12	5708775	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	789334	5708775	128143120	875	56418											
NOP2	4839	broad.mit.edu	37	chr12	6670152	6670152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgttggtgactcccagcCgatgcaagttgcccacaaca	11	12	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:6670152C>T	uc001qph.1	-	12	1460	c.1280G>A	c.(1279-1281)CGG>CAG	p.R427Q	NOP2_uc009zeq.1_Missense_Mutation_p.R143Q|NOP2_uc001qpi.1_Missense_Mutation_p.R427Q|NOP2_uc001qpj.1_Intron	NM_001033714	NP_001028886	P46087	NOP2_HUMAN	nucleolar protein 1, 120kDa	431					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			ovary(2)	2						GACTCCCAGCCGATGCAAGTT	0.552													T	6670152	C	T	6670152	3	4	84	1	0	0	0	0	1	0	0	0	10538	652	23	1	1166	1	NOP2	12	6670152	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	961377	6670152	127181743	876	56419											
CHD4	1108	broad.mit.edu	37	chr12	6715477	6715477	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctgttgttcaaaagtgcAtccatatcctcctcctcact	6	13	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:6715477A>G	uc001qpo.2	-	2	227	c.63T>C	c.(61-63)GAT>GAC	p.D21D	CHD4_uc001qpn.2_Silent_p.D21D|CHD4_uc001qpp.2_Silent_p.D21D	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	21					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCAAAAGTGCATCCATATCCT	0.662													G	6715477	A	G	6715477	2	3	84	1	0	0	0	0	0	0	0	1	3327	214	8	3		3	CHD4	12	6715477	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	45325	6715477	127136418	877	56420											
ZNF384	171017	broad.mit.edu	37	chr12	6777207	6777207	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggccactgctgccgcTgctgctgctgcctgcacctg	13	17	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:6777207T>C	uc010sfh.1	-	11	1615	c.1407A>G	c.(1405-1407)GCA>GCG	p.A469A	ZNF384_uc001qpz.2_Silent_p.A408A|ZNF384_uc001qqa.2_Silent_p.A408A|ZNF384_uc001qqb.2_Silent_p.A392A|ZNF384_uc001qqc.2_Silent_p.A408A|ZNF384_uc001qqd.2_Silent_p.A353A|ZNF384_uc001qqe.2_Silent_p.A392A	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	nuclear matrix transcription factor 4 isoform d	469	Ala-rich.|Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8						ctgctgccgctgctgctgctg	0.189			T	EWSR1|TAF15 	ALL								C	6777207	T	C	6777207	2	2	84	1	0	0	0	0	0	0	0	1	17872	1567	55	3		3	ZNF384	12	6777207	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	61730	6777207	127074688	878	56421											
CD4	920	broad.mit.edu	37	chr12	6924043	6924043	+	Frame_Shift_Del	DEL	G	G	-													ccaaggggtaaaaacatacaGggggggaagaccctctccgt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:6924042_6924042AG>A	uc001qqv.2	+	4	749	c.491_491AG>A	c.(490-492)cagfs	p.Q164fs	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Frame_Shift_Del_p.Q109fs|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	164	Ig-like C2-type 1.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAG	0.562													-	6924043	G	-	6924043	7	5	84	1	0	1	0	1	0	0	0	0	3014	991	35	0	506	0	CD4	12	6924043	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	146836	6924043	126927852	879	56422											
LEPREL2	10536	broad.mit.edu	37	chr12	6943194	6943194	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccccagccgagtgtggggTgctgctgcagctggctaagg	16	12	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:6943194T>C	uc001qra.1	+	11	1473	c.1439T>C	c.(1438-1440)GTG>GCG	p.V480A	LEPREL2_uc001qqz.1_Missense_Mutation_p.V287A|LEPREL2_uc001qrb.1_Missense_Mutation_p.V287A	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN	leprecan-like 2 precursor	480					negative regulation of cell proliferation	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity				0					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GAGTGTGGGGTGCTGCTGCAG	0.597													C	6943194	T	C	6943194	3	2	84	1	0	0	0	0	1	0	0	0	8731	1696	59	3	1472	3	LEPREL2	12	6943194	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	19151	6943194	126908701	880	56423											
ATN1	1822	broad.mit.edu	37	chr12	7045763	7045763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagccagggtcccccaccaCctcctccctatggccgcctc	9	21	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:7045763C>T	uc001qrw.1	+	5	1570	c.1333C>T	c.(1333-1335)CCT>TCT	p.P445S	ATN1_uc001qrx.1_Missense_Mutation_p.P445S|ATN1_uc001qry.1_Missense_Mutation_p.P444S	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	445	Poly-Pro.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						TCCCCCACCACCTCCTCCCTA	0.627													T	7045763	C	T	7045763	3	4	84	1	0	0	0	0	1	0	0	0	1111	507	18	4	1347	4	ATN1	12	7045763	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	102569	7045763	126806132	881	56424											
EMG1	10436	broad.mit.edu	37	chr12	7084290	7084290	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgttcgagcagctgatGgcccccagaagcttttgaag	12	10	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:7084290G>T	uc001qsh.3	+	6	594	c.451G>T	c.(451-453)GGC>TGC	p.G151C	EMG1_uc009zfo.2_Intron|EMG1_uc010sfv.1_RNA	NM_006331	NP_006322	Q92979	NEP1_HUMAN	ribosome biogenesis protein NEP1	151					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding				0						AGCAGCTGATGGCCCCCAGAA	0.453													T	7084290	G	T	7084290	3	4	84	1	0	0	0	0	1	0	0	0	5090	1348	47	5	464	5	EMG1	12	7084290	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	38527	7084290	126767605	882	56425											
PEX5	5830	broad.mit.edu	37	chr12	7343037	7343037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgctcatgaagctcgccGggcacttcacccaggacaag	10	16	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:7343037G>A	uc009zfu.1	+	3	644	c.64G>A	c.(64-66)GGG>AGG	p.G22R	PEX5_uc001qsw.2_Missense_Mutation_p.G22R|PEX5_uc010sgc.1_Missense_Mutation_p.G22R|PEX5_uc001qsu.2_Missense_Mutation_p.G22R|PEX5_uc010sgd.1_Missense_Mutation_p.G43R|PEX5_uc001qsv.2_Missense_Mutation_p.G22R	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5 isoform d	22					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			ovary(1)	1						GAAGCTCGCCGGGCACTTCAC	0.662													A	7343037	G	A	7343037	3	1	84	1	0	0	0	0	1	0	0	0	11748	1116	39	1	66	1	PEX5	12	7343037	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	258747	7343037	126508858	883	56426											
A2M	2	broad.mit.edu	37	chr12	9251272	9251272	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccacagcacggagggcgcaGacggactgaggagccgctgt	16	12	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:9251272G>T	uc001qvk.1	-	15	1895	c.1782C>A	c.(1780-1782)GTC>GTA	p.V594V	A2M_uc009zgk.1_Silent_p.V444V	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	594					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	GGAGGGCGCAGACGGACTGAG	0.577													T	9251272	G	T	9251272	2	4	84	1	0	0	0	0	0	0	0	1	4	929	33	5		5	A2M	12	9251272	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1908235	9251272	124600623	884	56427											
PRB2	653247	broad.mit.edu	37	chr12	11546360	11546360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtccttgtggctttcctgGaggtgggggaccttgaggtt	17	7	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:11546360G>A	uc010shk.1	-	3	687	c.652C>T	c.(652-654)CCA>TCA	p.P218S		NM_006248	NP_006239			proline-rich protein BstNI subfamily 2												0		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGCTTTCCTGGAGGTGGGGGA	0.607													A	11546360	G	A	11546360	3	1	84	1	0	0	0	0	1	0	0	0	12443	1174	41	4	602	4	PRB2	12	11546360	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	2295088	11546360	122305535	885	56428											
GUCY2C	2984	broad.mit.edu	37	chr12	14849285	14849285	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacgctgatttcatagctgCcattgtggcagttctgactc	11	10	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:14849285C>A	uc001rcd.2	-	1	235	c.98G>T	c.(97-99)GGC>GTC	p.G33V	GUCY2C_uc009zhz.2_Missense_Mutation_p.G33V	NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	33	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6						TTCATAGCTGCCATTGTGGCA	0.522													A	14849285	C	A	14849285	3	1	84	1	0	0	0	0	1	0	0	0	6896	739	26	5	3231	5	GUCY2C	12	14849285	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	3302925	14849285	119002610	886	56429											
MGST1	4257	broad.mit.edu	37	chr12	16516906	16516907	+	Frame_Shift_Ins	INS	-	-	T													agccaaatagagctttgagtINSttttttgttggatatggagt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:16516905_16516906G>GT	uc001rdh.3	+	3	541_542	c.398_399G>GT	c.(397-399)agtfs	p.S133fs	MGST1_uc001rdf.3_Frame_Shift_Ins_p.S133fs|MGST1_uc001rdg.3_Frame_Shift_Ins_p.S133fs|MGST1_uc009zih.1_Intron|MGST1_uc001rdi.3_Frame_Shift_Ins_p.S133fs	NM_145791	NP_665735	P10620	MGST1_HUMAN	Homo sapiens microsomal glutathione S-transferase 1 (MGST1), transcript variant 1c, mRNA.	133					protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	AGAGCTTTGAGTTTTTTTGTTG	0.436													T	16516907	-	T	16516906	7	5	84	1	0	1	1	0	0	0	0	0	9560	1722	60	0	409	0	MGST1	12	16516906	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	1667621	16516906	117334989	887	56430											
PLEKHA5	54477	broad.mit.edu	37	chr12	19498775	19498775	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacgttttctaatattcccaGgtatgataggatcaaagcct	7	8	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:19498775G>T	uc001reb.2	+	18	2440	c.2354_splice	c.e18-1	p.G785_splice	PLEKHA5_uc010sie.1_Splice_Site_p.G883_splice|PLEKHA5_uc001rea.2_Splice_Site_p.G843_splice|PLEKHA5_uc009zin.2_Splice_Site_p.G543_splice|PLEKHA5_uc010sif.1_Splice_Site_p.G711_splice|PLEKHA5_uc010sig.1_Splice_Site_p.G704_splice|PLEKHA5_uc010sih.1_Splice_Site_p.G677_splice|PLEKHA5_uc001rec.1_Splice_Site_p.G531_splice|PLEKHA5_uc009zio.2_Intron	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A								1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AATATTCCCAGGTATGATAGG	0.209													T	19498775	G	T	19498775	5	4	84	1	0	0	0	0	0	0	1	0	12059	1014	35	5	2548	5	PLEKHA5	12	19498775	Splice_Site	SNP	G	TCGA-BR-8372-01A-11D-2340-08	2981869	19498775	114353120	888	56431											
LST-3TM12	338821	broad.mit.edu	37	chr12	21201650	21201650	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tttctcttatttctaggagtCctcgccctacctgctgttgc	7	13	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:21201650C>G	uc010sin.1	+	8	999	c.999C>G	c.(997-999)GTC>GTG	p.V333V	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.V380V	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	333						membrane	transporter activity				0						TTCTAGGAGTCCTCGCCCTAC	0.234													G	21201650	C	G	21201650	2	3	84	1	0	0	0	0	0	0	0	1	9066	842	30	5		5	LST-3TM12	12	21201650	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1702875	21201650	112650245	889	56432											
SLCO1B1	10599	broad.mit.edu	37	chr12	21350012	21350012	+	Frame_Shift_Del	DEL	A	A	-													ccaaactccaaataaaccacAaaaagaaagaaaagcttcac							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:21350011_21350011CA>C	uc001req.4	+	7	963	c.859_859CA>C	c.(859-861)caafs	p.Q287fs		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	287					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	AAATAAACCACAAAAAGAAAG	0.363													-	21350012	A	-	21350012	7	5	84	1	0	1	0	1	0	0	0	0	14723	130	5	0	886	0	SLCO1B1	12	21350012	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	148362	21350012	112501883	890	56433											
LDHB	3945	broad.mit.edu	37	chr12	21790024	21790024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttaccattgttgacacgGgatgaatcctggatagattt	9	8	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:21790024G>A	uc001rfc.2	-	6	836	c.818C>T	c.(817-819)CCC>CTC	p.P273L	LDHB_uc001rfd.2_Missense_Mutation_p.P273L|LDHB_uc001rfe.2_Missense_Mutation_p.P273L	NM_002300	NP_002291	P07195	LDHB_HUMAN	L-lactate dehydrogenase B	273					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|ovary(1)	3					NADH(DB00157)	TGTTGACACGGGATGAATCCT	0.353													A	21790024	G	A	21790024	3	1	84	1	0	0	0	0	1	0	0	0	8701	1232	43	4	194	4	LDHB	12	21790024	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	440012	21790024	112061871	891	56434											
ABCC9	10060	broad.mit.edu	37	chr12	22068696	22068696	+	Frame_Shift_Del	DEL	T	T	-													ttgccttcagatcaataggcTttttgtgagcagatataata							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:22068696delT	uc001rfi.1	-	5	742	c.722delA	c.(721-723)AAGfs	p.K241fs	ABCC9_uc001rfh.2_Frame_Shift_Del_p.K241fs|ABCC9_uc001rfj.1_Frame_Shift_Del_p.K241fs	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	241	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATCAATAGGCTTTTTGTGAGC	0.373													-	22068696	T	-	22068696	7	5	84	1	0	1	0	1	0	0	0	0	59	1609	56	0	4205	0	ABCC9	12	22068696	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	278672	22068696	111783199	892	56435											
SOX5	6660	broad.mit.edu	37	chr12	23728718	23728718	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggtgatgtgggtgattTgccatcagaggtcttgggtt	18	4	2	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:23728718T>C	uc001rfw.2	-	10	1321	c.1219A>G	c.(1219-1221)AAA>GAA	p.K407E	SOX5_uc001rfx.2_Missense_Mutation_p.K394E|SOX5_uc001rfy.2_Intron|SOX5_uc001rfv.2_Missense_Mutation_p.K21E|SOX5_uc010siv.1_Missense_Mutation_p.K394E|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.K359E	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	407					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						GTGGGTGATTTGCCATCAGAG	0.512													C	23728718	T	C	23728718	3	2	84	1	0	0	0	0	1	0	0	0	14954	1821	63	3	1096	3	SOX5	12	23728718	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1660022	23728718	110123177	893	56436											
CASC1	55259	broad.mit.edu	37	chr12	25297532	25297532	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atagtgggtatgcaggagtcGtacagcaatgtcacttgttg	13	6	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:25297532G>C	uc001rgl.2	-	8	833	c.751C>G	c.(751-753)CGA>GGA	p.R251G	CASC1_uc001rgk.2_Missense_Mutation_p.R257G|CASC1_uc001rgm.3_Missense_Mutation_p.R315G|CASC1_uc001rgj.2_Missense_Mutation_p.R211G|CASC1_uc010sje.1_Missense_Mutation_p.R192G|CASC1_uc010sjf.1_Missense_Mutation_p.R139G|CASC1_uc010sjg.1_Missense_Mutation_p.R251G	NM_001082973	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1 isoform b	251										ovary(2)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TGCAGGAGTCGTACAGCAATG	0.383													C	25297532	G	C	25297532	3	2	84	1	0	0	0	0	1	0	0	0	2660	1153	40	5	1431	5	CASC1	12	25297532	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1568814	25297532	108554363	894	56437											
ERGIC2	51290	broad.mit.edu	37	chr12	29524548	29524548	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccaaacttaaagttttttTccgattcagtcgcctcatct	4	11	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:29524548T>C	uc001riv.2	-	2	152	c.19A>G	c.(19-21)AAA>GAA	p.K7E	ERGIC2_uc001riw.2_RNA	NM_016570	NP_057654	Q96RQ1	ERGI2_HUMAN	PTX1 protein	7	Cytoplasmic (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				ovary(1)	1	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	AAAGTTTTTTTCCGATTCAGT	0.378													C	29524548	T	C	29524548	3	2	84	1	0	0	0	0	1	0	0	0	5224	1792	62	3	1166	3	ERGIC2	12	29524548	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	4227016	29524548	104327347	895	56438											
LRRK2	120892	broad.mit.edu	37	chr12	40714947	40714947	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggattttggtcaagattaatCaatcgattacttgagatttc	8	5	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:40714947C>A	uc001rmg.3	+	35	5248	c.5127C>A	c.(5125-5127)ATC>ATA	p.I1709I	LRRK2_uc009zjw.2_Silent_p.I547I|LRRK2_uc001rmi.2_Silent_p.I542I	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1709					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CAAGATTAATCAATCGATTAC	0.338													A	40714947	C	A	40714947	2	1	84	1	0	0	0	0	0	0	0	1	9033	816	29	5		5	LRRK2	12	40714947	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	11190399	40714947	93136948	896	56439											
LRRK2	120892	broad.mit.edu	37	chr12	40748201	40748201	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtctggtactctcctggTcatcaataccgaagatggga	10	10	4	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:40748201T>C	uc001rmg.3	+	45	6798	c.6677T>C	c.(6676-6678)GTC>GCC	p.V2226A	LRRK2_uc009zjw.2_Missense_Mutation_p.V1064A|LRRK2_uc001rmi.2_Missense_Mutation_p.V1059A	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2226					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACTCTCCTGGTCATCAATACC	0.418													C	40748201	T	C	40748201	3	2	84	1	0	0	0	0	1	0	0	0	9033	1667	58	3	6855	3	LRRK2	12	40748201	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	33254	40748201	93103694	897	56440											
GXYLT1	283464	broad.mit.edu	37	chr12	42491722	42491722	+	Frame_Shift_Del	DEL	A	A	-													aaataattacctggattatgAaaaaacacgatattcaatag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:42491721_42491721GA>G	uc001rms.4	-	5	1204	c.979_979TC>C	c.(979-981)catfs	p.H327fs	GXYLT1_uc001rmt.4_Frame_Shift_Del_p.H296fs	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	327					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CCTGGATTATGAAAAAACACG	0.294													-	42491722	A	-	42491722	7	5	84	1	0	1	0	1	0	0	0	0	6903	243	9	0	356	0	GXYLT1	12	42491722	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	1743521	42491722	91360173	898	56441											
FAM113B	91523	broad.mit.edu	37	chr12	47630062	47630062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttggcaggtatcgtcccCgtggcccctatacgccctgg	12	14	0	0	rs112959993		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:47630062C>T	uc001rpn.2	+	4	1947	c.1216C>T	c.(1216-1218)CGT>TGT	p.R406C	FAM113B_uc001rpq.2_Missense_Mutation_p.R406C	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	406	Pro-rich.						hydrolase activity			skin(3)|ovary(2)	5	Renal(347;0.138)|Lung SC(27;0.192)					GTATCGTCCCCGTGGCCCCTA	0.592													T	47630062	C	T	47630062	3	4	84	1	0	0	0	0	1	0	0	0	5402	652	23	1	1218	1	FAM113B	12	47630062	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	5138340	47630062	86221833	899	56442											
HDAC7	51564	broad.mit.edu	37	chr12	48185709	48185709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaccagatgctctggatgCggccggcgtgctccgggtgc	18	12	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:48185709C>T	uc010slo.1	-	14	1952	c.1757G>A	c.(1756-1758)CGC>CAC	p.R586H	HDAC7_uc009zku.2_RNA|HDAC7_uc001rqe.2_Missense_Mutation_p.R20H|HDAC7_uc001rqj.3_Missense_Mutation_p.R549H|HDAC7_uc001rqk.3_Missense_Mutation_p.R569H	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7 isoform a	547	Histone deacetylase.				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		GCTCTGGATGCGGCCGGCGTG	0.677													T	48185709	C	T	48185709	3	4	84	1	0	0	0	0	1	0	0	0	7012	768	27	1	1270	1	HDAC7	12	48185709	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	555647	48185709	85666186	900	56443											
H1FNT	341567	broad.mit.edu	37	chr12	48723395	48723395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggcaggccaaggccacGctcctccgggtcagcggcag	17	14	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:48723395G>A	uc001rrm.2	+	1	633	c.321G>A	c.(319-321)ACG>ACA	p.T107T		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	107					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			pancreas(1)	1						CCAAGGCCACGCTCCTCCGGG	0.682													A	48723395	G	A	48723395	2	1	84	1	0	0	0	0	0	0	0	1	6921	1074	38	1		1	H1FNT	12	48723395	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	537686	48723395	85128500	901	56444											
ANP32D	23519	broad.mit.edu	37	chr12	48866561	48866561	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaattggaaggcctcacAgatgaatttgaagaactgga	12	6	1	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:48866561A>G	uc010slt.1	+	1	114	c.114A>G	c.(112-114)ACA>ACG	p.T38T		NM_012404	NP_036536	O95626	AN32D_HUMAN	acidic nuclear phosphoprotein 32D	38	LRR 1.			T -> A (in Ref. 1; AAD13667).						ovary(1)|central_nervous_system(1)	2						AAGGCCTCACAGATGAATTTG	0.393													G	48866561	A	G	48866561	2	3	84	1	0	0	0	0	0	0	0	1	708	175	7	3		3	ANP32D	12	48866561	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	143166	48866561	84985334	902	56445											
ADCY6	112	broad.mit.edu	37	chr12	49167856	49167856	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcatccgggctgcacagctcCgtatgggggtgtggttacag	16	10	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:49167856C>A	uc001rsh.3	-	14	2969	c.2309G>T	c.(2308-2310)CGG>CTG	p.R770L	ADCY6_uc001rsj.3_Missense_Mutation_p.R770L|ADCY6_uc001rsi.3_Intron|ADCY6_uc010slw.1_5'UTR	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	770	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0						TGCACAGCTCCGTATGGGGGT	0.547													A	49167856	C	A	49167856	3	1	84	1	0	0	0	0	1	0	0	0	298	652	23	5	1229	5	ADCY6	12	49167856	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	301295	49167856	84684039	903	56446											
MLL2	8085	broad.mit.edu	37	chr12	49420206	49420206	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggcgtggaacacaaggccCcccacacggaacatgtgcag	12	13	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:49420206C>A	uc001rta.3	-	48	15543	c.15543G>T	c.(15541-15543)GGG>GGT	p.G5181G		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5181	FYR N-terminal.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						ACACAAGGCCCCCCACACGGA	0.597			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49420206	C	A	49420206	2	1	84	1	0	0	0	0	0	0	0	1	9621	610	22	5		5	MLL2	12	49420206	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	252350	49420206	84431689	904	56447											
MLL2	8085	broad.mit.edu	37	chr12	49433773	49433773	+	Frame_Shift_Del	DEL	G	G	-													ggacccgctgctgggccccaGggggctgcccgatgggtgga					rs35050033		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:49433773delG	uc001rta.3	-	31	7780	c.7780delC	c.(7780-7782)CTGfs	p.L2594fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2594	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CTGGGCCCCAGGGGGCTGCCC	0.647			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			-	49433773	G	-	49433773	7	5	84	1	0	1	0	1	0	0	0	0	9621	991	35	0	8929	0	MLL2	12	49433773	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	13567	49433773	84418122	905	56448											
METTL7A	25840	broad.mit.edu	37	chr12	51319087	51319087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaacttcaagttctaccCacctgggtgcagggtgacct	11	13	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:51319087C>T	uc001rxb.2	+	1	554	c.266C>T	c.(265-267)CCA>CTA	p.P89L	METTL7A_uc010smv.1_Missense_Mutation_p.P89L	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN	methyltransferase like 7A precursor	89						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity				0						AAGTTCTACCCACCTGGGTGC	0.562													T	51319087	C	T	51319087	3	4	84	1	0	0	0	0	1	0	0	0	9505	594	21	4	268	4	METTL7A	12	51319087	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1885314	51319087	82532808	906	56449											
GALNT6	11226	broad.mit.edu	37	chr12	51771119	51771119	+	Frame_Shift_Del	DEL	G	G	-													tcacgctggtggtggccagtGgggggcagcgccggaacttc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:51771118_51771118TG>T	uc001ryk.2	-	2	750	c.525_525CA>A	c.(523-525)ccafs	p.P175fs	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Frame_Shift_Del_p.P175fs	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	175					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGGTGGCCAGTGGGGGGCAGC	0.597													-	51771119	G	-	51771119	7	5	84	1	0	1	0	1	0	0	0	0	6217	1348	47	0	1380	0	GALNT6	12	51771119	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	452032	51771119	82080776	907	56450											
NR4A1	3164	broad.mit.edu	37	chr12	52448961	52448961	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcattatggtgtccgcacAtgtgagggctgcaagggctt	14	9	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:52448961A>G	uc001rzs.2	+	3	1163	c.849A>G	c.(847-849)ACA>ACG	p.T283T	NR4A1_uc010sno.1_Silent_p.T296T|NR4A1_uc001rzr.2_Silent_p.T283T|NR4A1_uc009zmb.1_Silent_p.T283T|NR4A1_uc001rzt.2_Silent_p.T283T|NR4A1_uc009zmc.2_5'Flank	NM_002135	NP_002126	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	283	NR C4-type.|Nuclear receptor.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GTGTCCGCACATGTGAGGGCT	0.612													G	52448961	A	G	52448961	2	3	84	1	0	0	0	0	0	0	0	1	10632	204	8	3		3	NR4A1	12	52448961	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	677842	52448961	81402934	908	56451											
NR4A1	3164	broad.mit.edu	37	chr12	52450285	52450285	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattcctttgcagttgtccgAacagacagcctgaaggggcg	12	11	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:52450285A>G	uc001rzs.2	+	5	1328	c.1014A>G	c.(1012-1014)CGA>CGG	p.R338R	NR4A1_uc010sno.1_Silent_p.R351R|NR4A1_uc001rzt.2_Silent_p.R338R|NR4A1_uc009zmc.2_5'UTR	NM_002135	NP_002126	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	338	Nuclear receptor.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CAGTTGTCCGAACAGACAGCC	0.632													G	52450285	A	G	52450285	2	3	84	1	0	0	0	0	0	0	0	1	10632	233	9	3		3	NR4A1	12	52450285	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1324	52450285	81401610	909	56452											
KRT3	3850	broad.mit.edu	37	chr12	53184633	53184633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtacttacagatgctgacaGcactcggacactctccagac	9	13	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:53184633G>A	uc001say.2	-	8	1625	c.1559C>T	c.(1558-1560)GCT>GTT	p.A520V		NM_057088	NP_476429	P12035	K2C3_HUMAN	keratin 3	520	Tail.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity				0						GATGCTGACAGCACTCGGACA	0.428													A	53184633	G	A	53184633	3	1	84	1	0	0	0	0	1	0	0	0	8466	971	34	2	335	2	KRT3	12	53184633	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	734348	53184633	80667262	910	56453											
HOXC13	3229	broad.mit.edu	37	chr12	54333276	54333276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacgtgtcggtggtgcccGggatcagcgggcacccggag	19	11	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:54333276G>A	uc001sei.2	+	1	701	c.586G>A	c.(586-588)GGG>AGG	p.G196R	HOXC13_uc010sop.1_RNA	NM_017410	NP_059106	P31276	HXC13_HUMAN	homeobox C13	196						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						GGTGGTGCCCGGGATCAGCGG	0.657			T	NUP98	AML								A	54333276	G	A	54333276	3	1	84	1	0	0	0	0	1	0	0	0	7312	1116	39	1	588	1	HOXC13	12	54333276	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1148643	54333276	79518619	911	56454											
NFE2	4778	broad.mit.edu	37	chr12	54686659	54686659	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccgcacagggcctgaggaGggctctaaggccaagggggt	18	11	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:54686659G>T	uc009znk.2	-	2	1131	c.621C>A	c.(619-621)CCC>CCA	p.P207P	NFE2_uc001sfq.2_Silent_p.P207P|NFE2_uc001sfr.3_Silent_p.P207P|NFE2_uc009znl.2_Silent_p.P207P	NM_006163	NP_006154	Q16621	NFE2_HUMAN	nuclear factor, erythroid derived 2 isoform 1	207					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding				0						GGCCTGAGGAGGGCTCTAAGG	0.602													T	54686659	G	T	54686659	2	4	84	1	0	0	0	0	0	0	0	1	10366	987	35	5		5	NFE2	12	54686659	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	353383	54686659	79165236	912	56455											
OR6C74	254783	broad.mit.edu	37	chr12	55641513	55641513	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtctttgcttcatggAtggctggcttcctaataatt	10	8	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:55641513A>G	uc010spg.1	+	1	442	c.442A>G	c.(442-444)ATG>GTG	p.M148V		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	148	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						TGCTTCATGGATGGCTGGCTT	0.488													G	55641513	A	G	55641513	3	3	84	1	0	0	0	0	1	0	0	0	11198	333	12	3	444	3	OR6C74	12	55641513	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	954854	55641513	78210382	913	56456											
DGKA	1606	broad.mit.edu	37	chr12	56333951	56333951	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaagtctcggaaggacatTggtgtgagtgatctcatgcc	13	9	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:56333951T>C	uc001sij.2	+	10	1059	c.795T>C	c.(793-795)ATT>ATC	p.I265I	DGKA_uc009zoc.1_Silent_p.I265I|DGKA_uc001sih.1_Silent_p.I153I|DGKA_uc001sii.1_Silent_p.I123I|DGKA_uc009zod.1_Silent_p.I184I|DGKA_uc009zoe.1_3'UTR|DGKA_uc001sik.2_Silent_p.I265I|DGKA_uc001sil.2_Silent_p.I265I|DGKA_uc001sim.2_Silent_p.I265I|DGKA_uc001sin.2_Silent_p.I265I|DGKA_uc009zof.2_Intron|DGKA_uc001sio.2_Missense_Mutation_p.L8S	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	265					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	GGAAGGACATTGGTGTGAGTG	0.577											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	56333951	T	C	56333951	2	2	84	1	0	0	0	0	0	0	0	1	4465	1800	63	3		3	DGKA	12	56333951	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	692438	56333951	77517944	914	56457											
TIMELESS	8914	broad.mit.edu	37	chr12	56816646	56816646	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctgtcatccagggagCcatagccctcagtcatctct	7	16	5	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:56816646C>A	uc001slf.2	-	19	2591	c.2423G>T	c.(2422-2424)GGC>GTC	p.G808V		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	808					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						ATCCAGGGAGCCATAGCCCTC	0.428													A	56816646	C	A	56816646	3	1	84	1	0	0	0	0	1	0	0	0	15901	739	26	5	1247	5	TIMELESS	12	56816646	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	482695	56816646	77035249	915	56458											
LRP1	4035	broad.mit.edu	37	chr12	57571256	57571256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcctgccccgcattgagGcagcctccatgagtggggct	13	15	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:57571256G>A	uc001snd.2	+	26	4709	c.4243G>A	c.(4243-4245)GCA>ACA	p.A1415T		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1415	LDL-receptor class B 10.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCGCATTGAGGCAGCCTCCAT	0.677													A	57571256	G	A	57571256	3	1	84	1	0	0	0	0	1	0	0	0	8951	1203	42	2	4345	2	LRP1	12	57571256	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	754610	57571256	76280639	916	56459											
SHMT2	6472	broad.mit.edu	37	chr12	57627675	57627675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgccatcacaccgggcGgcctgcggcttggtgagacc	15	13	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:57627675G>A	uc001snf.1	+	10	1277	c.1267G>A	c.(1267-1269)GGC>AGC	p.G423S	SHMT2_uc001sng.1_Missense_Mutation_p.G319S|SHMT2_uc001snh.1_Missense_Mutation_p.G262S|SHMT2_uc009zpk.1_Missense_Mutation_p.G413S|SHMT2_uc001sni.1_Missense_Mutation_p.G402S|SHMT2_uc010srg.1_Missense_Mutation_p.G432S|SHMT2_uc001snj.1_Missense_Mutation_p.G327S|SHMT2_uc010srh.1_Missense_Mutation_p.G402S|SHMT2_uc001snk.1_Missense_Mutation_p.G327S|SHMT2_uc010sri.1_Missense_Mutation_p.G402S|SHMT2_uc001snl.2_Missense_Mutation_p.G327S|SHMT2_uc010srj.1_Missense_Mutation_p.G78S	NM_005412	NP_005403	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2	423						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			ovary(1)|central_nervous_system(1)	2					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CACACCGGGCGGCCTGCGGCT	0.622													A	57627675	G	A	57627675	3	1	84	1	0	0	0	0	1	0	0	0	14286	1116	39	1	1305	1	SHMT2	12	57627675	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	56419	57627675	76224220	917	56460											
R3HDM2	22864	broad.mit.edu	37	chr12	57648750	57648750	+	Frame_Shift_Del	DEL	C	C	-													ctcagcagtcccactgttgtCccccccaccccctccaggca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:57648749_57648749TC>T	uc009zpm.1	-	21	2773	c.2738_2738GA>A	c.(2737-2739)gacfs	p.D913fs	R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Frame_Shift_Del_p.D608fs|R3HDM2_uc001snr.2_Frame_Shift_Del_p.D640fs|R3HDM2_uc001sns.2_Frame_Shift_Del_p.D913fs|R3HDM2_uc001snt.2_Frame_Shift_Del_p.D927fs	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	913						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCCACTGTTGTCCCCCCCACC	0.632													-	57648750	C	-	57648750	7	5	84	1	0	1	0	1	0	0	0	0	12888	855	30	0	197	0	R3HDM2	12	57648750	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	21075	57648750	76203145	918	56461											
PPFIA2	8499	broad.mit.edu	37	chr12	81732978	81732978	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggagctgcccaagtcgagcTttttcttttttaccaaacaa	7	11	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:81732978T>C	uc001szo.1	-	21	2690	c.2529A>G	c.(2527-2529)AAA>AAG	p.K843K	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	769								p.K843E(1)		ovary(3)|lung(2)|pancreas(1)	6						CAAGTCGAGCTTTTTCTTTTT	0.408													C	81732978	T	C	81732978	2	2	84	1	0	0	0	0	0	0	0	1	12310	1606	56	3		3	PPFIA2	12	81732978	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	24084228	81732978	52118917	919	56462											
LRRIQ1	84125	broad.mit.edu	37	chr12	85450035	85450036	+	Frame_Shift_Ins	INS	-	-	A													aaaaaaatgaaaacctagcaINSaaaaaacgatgttcagaaga							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:85450034_85450035C>CA	uc001tac.3	+	7	1574_1575	c.1463_1464C>CA	c.(1462-1464)gcafs	p.A488fs	LRRIQ1_uc021rbo.1_Frame_Shift_Ins_p.A366fs|LRRIQ1_uc001taa.1_Frame_Shift_Ins_p.A463fs	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	488										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAAACCTAGCAAAAAAACGAT	0.277													A	85450036	-	A	85450035	7	5	84	1	0	1	1	0	0	0	0	0	9029	117	5	0	1490	0	LRRIQ1	12	85450035	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	3717057	85450035	48401860	920	56463											
C12orf50	160419	broad.mit.edu	37	chr12	88380180	88380180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgaggcttcttcactggCtggacatcattcacttagaa	8	9	4	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:88380180C>T	uc001tam.1	-	10	999	c.831G>A	c.(829-831)CAG>CAA	p.Q277Q	C12orf50_uc001tan.2_Silent_p.Q292Q	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	277										skin(2)|ovary(1)	3						TCTTCACTGGCTGGACATCAT	0.338													T	88380180	C	T	88380180	2	4	84	1	0	0	0	0	0	0	0	1	1695	796	28	2		2	C12orf50	12	88380180	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2930145	88380180	45471715	921	56464											
CCDC41	51134	broad.mit.edu	37	chr12	94761653	94761653	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcatactgatccttttcagaTtgcctccagacatcatgttc	5	12	3	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:94761653T>A	uc001tdd.2	-	11	1846	c.1260A>T	c.(1258-1260)CAA>CAT	p.Q420H	CCDC41_uc001tde.2_Missense_Mutation_p.Q420H|CCDC41_uc009zsw.1_RNA	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	NY-REN-58 antigen	412	Potential.										0						CCTTTTCAGATTGCCTCCAGA	0.378													A	94761653	T	A	94761653	3	1	84	1	0	0	0	0	1	0	0	0	2813	1490	52	5	873	5	CCDC41	12	94761653	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	6381473	94761653	39090242	922	56465											
ANKS1B	56899	broad.mit.edu	37	chr12	99640299	99640299	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgttcataacccactgGtccccattccgagatccact	6	17	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:99640299G>T	uc001tge.1	-	13	2517	c.2100C>A	c.(2098-2100)GAC>GAA	p.D700E	ANKS1B_uc001tgf.1_Missense_Mutation_p.D280E|ANKS1B_uc001tgk.2_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.D666E	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	700						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TAACCCACTGGTCCCCATTCC	0.448													T	99640299	G	T	99640299	3	4	84	1	0	0	0	0	1	0	0	0	689	1252	44	5	1990	5	ANKS1B	12	99640299	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	4878646	99640299	34211596	923	56466											
SCYL2	55681	broad.mit.edu	37	chr12	100717349	100717349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcaaatcttatagactAcccatccatgaaaaacgctt	4	11	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:100717349A>G	uc001thn.2	+	11	1492	c.1442A>G	c.(1441-1443)TAC>TGC	p.Y481C	SCYL2_uc009ztw.1_Missense_Mutation_p.Y308C|SCYL2_uc001thm.1_Missense_Mutation_p.Y481C	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 protein	481					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			lung(3)|ovary(2)|skin(1)	6						CTTATAGACTACCCATCCATG	0.318													G	100717349	A	G	100717349	3	3	84	1	0	0	0	0	1	0	0	0	13948	391	14	3	1480	3	SCYL2	12	100717349	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1077050	100717349	33134546	924	56467											
UTP20	27340	broad.mit.edu	37	chr12	101773301	101773301	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacacctcccagaacctgtaGcaatcaagttcctagccagt	6	14	1	1	rs140552393	by1000genomes	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:101773301G>T	uc001tia.1	+	57	7705	c.7549G>T	c.(7549-7551)GCA>TCA	p.A2517S		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2517					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						AGAACCTGTAGCAATCAAGTT	0.428													T	101773301	G	T	101773301	3	4	84	1	0	0	0	0	1	0	0	0	17096	971	34	5	7775	5	UTP20	12	101773301	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1055952	101773301	32078594	925	56468											
TXNRD1	7296	broad.mit.edu	37	chr12	104715036	104715036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggacatggccaacaaaaTtggtgaacacatggaagaac	10	9	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:104715036T>C	uc010swk.1	+	10	1179	c.1157T>C	c.(1156-1158)ATT>ACT	p.I386T	TXNRD1_uc010swl.1_Missense_Mutation_p.I236T|TXNRD1_uc010swm.1_Missense_Mutation_p.I288T|TXNRD1_uc010swn.1_Missense_Mutation_p.I236T|TXNRD1_uc010swo.1_Missense_Mutation_p.I236T|TXNRD1_uc010swp.1_Missense_Mutation_p.I198T|TXNRD1_uc010swq.1_Missense_Mutation_p.I286T|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Missense_Mutation_p.I302T	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN	thioredoxin reductase 1 isoform 3	386					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity				0						GCCAACAAAATTGGTGAACAC	0.408													C	104715036	T	C	104715036	3	2	84	1	0	0	0	0	1	0	0	0	16804	1493	52	3	1209	3	TXNRD1	12	104715036	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	2941735	104715036	29136859	926	56469											
APPL2	55198	broad.mit.edu	37	chr12	105570797	105570797	+	Splice_Site	DEL	G	G	-													gacactggtaagttcaaactGgggggtggaaaaaaaggcaa							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:105570796_105570796TG>T	uc010swu.1	-	19	1908	c.1690_splice	c.e19-1	p.F564_splice	APPL2_uc010swt.2_Splice_Site_p.F515_splice|APPL2_uc001tlf.1_Splice_Site_p.F558_splice|APPL2_uc001tlg.1_Splice_Site_p.F312_splice	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.	558	PID.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AAGTTCAAACTGGGGGGTGGA	0.398													-	105570797	G	-	105570797	8	5	84	1	0	1	0	1	0	0	1	0	818	1363	47	0		0	APPL2	12	105570797	Splice_Site	DEL	G	TCGA-BR-8372-01A-11D-2340-08	855761	105570797	28281098	927	56470											
BTBD11	121551	broad.mit.edu	37	chr12	107713788	107713788	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagcacacggtcaacaaCgactcggagatctggggtct	13	11	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:107713788C>T	uc001tmk.1	+	1	1592	c.1071C>T	c.(1069-1071)AAC>AAT	p.N357N	BTBD11_uc009zut.1_Silent_p.N357N|BTBD11_uc001tmj.2_Silent_p.N357N	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	357						integral to membrane	DNA binding			skin(2)|ovary(1)	3						CGGTCAACAACGACTCGGAGA	0.498													T	107713788	C	T	107713788	2	4	84	1	0	0	0	0	0	0	0	1	1539	535	19	1		1	BTBD11	12	107713788	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2142991	107713788	26138107	928	56471											
ASCL4	121549	broad.mit.edu	37	chr12	108169151	108169151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggagtgggcgcgcagCggctgcgcacggggatggca	21	10	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:108169151C>T	uc001tmr.2	+	1	990	c.159C>T	c.(157-159)AGC>AGT	p.S53S		NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN	achaete-scute complex-like 4	52					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)	1						GGGCGCGCAGCGGCTGCGCAC	0.761													T	108169151	C	T	108169151	2	4	84	1	0	0	0	0	0	0	0	1	1036	767	27	1		1	ASCL4	12	108169151	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	455363	108169151	25682744	929	56472											
TCHP	84260	broad.mit.edu	37	chr12	110344435	110344435	+	Frame_Shift_Del	DEL	A	A	-													ttgggaaatgcagaaagaagAaaaaaaacaggtgtggtatg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:110344434_110344434GA>G	uc001tpn.3	+	4	667	c.514_514GA>G	c.(514-516)gaafs	p.E172fs	TCHP_uc001tpo.1_Non-coding_Transcript|TCHP_uc001tpp.3_Frame_Shift_Del_p.E172fs	NM_001143852	NP_115676	Q9BT92	TCHP_HUMAN	Homo sapiens trichoplein, keratin filament binding (TCHP), transcript variant 2, mRNA.	172	Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GCAGAAAGAAGAAAAAAAACA	0.478													-	110344435	A	-	110344435	7	5	84	1	0	1	0	1	0	0	0	0	15699	246	9	0	529	0	TCHP	12	110344435	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	2175284	110344435	23507460	930	56473											
GIT2	9815	broad.mit.edu	37	chr12	110427530	110427530	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggattagctttacgtcttccActcataatagacgcagggtc	9	10	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:110427530A>G	uc001tps.2	-	3	429	c.264T>C	c.(262-264)AGT>AGC	p.S88S	GIT2_uc001tpq.2_Silent_p.S88S|GIT2_uc001tpv.2_Silent_p.S88S|GIT2_uc001tpu.2_Silent_p.S88S|GIT2_uc001tpt.2_Silent_p.S88S|GIT2_uc010sxu.1_Silent_p.S26S|GIT2_uc001tpw.2_Silent_p.S88S|GIT2_uc010sxv.1_Silent_p.S88S	NM_057169	NP_476510	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting	88	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			central_nervous_system(1)	1						TACGTCTTCCACTCATAATAG	0.398													G	110427530	A	G	110427530	2	3	84	1	0	0	0	0	0	0	0	1	6397	156	6	3		3	GIT2	12	110427530	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	83095	110427530	23424365	931	56474											
ACAD10	80724	broad.mit.edu	37	chr12	112193494	112193494	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagccttggatatagccaTgattaaaatggtcgccccgt	10	10	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:112193494T>C	uc001tsq.2	+	20	3184	c.2984T>C	c.(2983-2985)ATG>ACG	p.M995T	ACAD10_uc009zvx.2_Missense_Mutation_p.M1026T|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	995							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						GATATAGCCATGATTAAAATG	0.527													C	112193494	T	C	112193494	3	2	84	1	0	0	0	0	1	0	0	0	108	1464	51	3	3155	3	ACAD10	12	112193494	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1765964	112193494	21658401	932	56475											
NAA25	80018	broad.mit.edu	37	chr12	112525546	112525546	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgaagaggtgagagtgatActcctcactattgggaactt	11	7	1	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:112525546A>G	uc001ttm.2	-	4	363	c.343T>C	c.(343-345)TAT>CAT	p.Y115H	NAA25_uc001ttn.3_Intron|NAA25_uc009zvz.1_Missense_Mutation_p.Y87H|NAA25_uc009zwa.1_Missense_Mutation_p.Y115H	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	115	TPR 4.					cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						TGAGAGTGATACTCCTCACTA	0.388													G	112525546	A	G	112525546	3	3	84	1	0	0	0	0	1	0	0	0	10121	391	14	3	2659	3	NAA25	12	112525546	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	332052	112525546	21326349	933	56476											
C12orf51	283450	broad.mit.edu	37	chr12	112650388	112650388	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtgaagtacacccggcccTtggctggctgtcccggagga	14	12	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:112650388T>C	uc009zwc.2	-	42	6284	c.6266A>G	c.(6265-6267)AAG>AGG	p.K2089R	C12orf51_uc001ttr.1_Missense_Mutation_p.K264R	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CACCCGGCCCTTGGCTGGCTG	0.547													C	112650388	T	C	112650388	3	2	84	1	0	0	0	0	1	0	0	0	1696	1609	56	3	5836	3	C12orf51	12	112650388	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	124842	112650388	21201507	934	56477											
RASAL1	8437	broad.mit.edu	37	chr12	113565943	113565943	+	Frame_Shift_Del	DEL	C	C	-													caggtgcaccgtgtactcctCcccccagaaggggcccaggc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:113565942_113565942TC>T	uc001tun.2	-	3	465	c.164_164GA>A	c.(163-165)gagfs	p.E55fs	RASAL1_uc010syp.2_Frame_Shift_Del_p.E55fs|RASAL1_uc001tul.3_Frame_Shift_Del_p.E55fs|RASAL1_uc001tum.2_Frame_Shift_Del_p.E55fs|RASAL1_uc010syq.2_Frame_Shift_Del_p.E55fs|RASAL1_uc001tuo.4_Frame_Shift_Del_p.E55fs|RASAL1_uc010syr.2_Frame_Shift_Del_p.E55fs	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	55	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CGTGTACTCCTCCCCCCAGAA	0.617													-	113565943	C	-	113565943	7	5	84	1	0	1	0	1	0	0	0	0	13063	864	30	0	2327	0	RASAL1	12	113565943	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	915555	113565943	20285952	935	56478											
SDS	10993	broad.mit.edu	37	chr12	113830824	113830824	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgatgttgctgcccccGcagacgatgaccacgaggga	14	12	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:113830824G>A	uc001tvg.2	-	8	1031	c.909C>T	c.(907-909)TGC>TGT	p.C303C		NM_006843	NP_006834	P20132	SDHL_HUMAN	serine dehydratase	303				C->A: Loss of enzyme activity.	gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			pancreas(1)	1					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TGCTGCCCCCGCAGACGATGA	0.632													A	113830824	G	A	113830824	2	1	84	1	0	0	0	0	0	0	0	1	13975	1079	38	1		1	SDS	12	113830824	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	264881	113830824	20021071	936	56479											
SDS	10993	broad.mit.edu	37	chr12	113835115	113835115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactccacacagcaggccccCgccgcccactgacagcgcga	9	21	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:113835115C>T	uc001tvg.2	-	6	630	c.508G>A	c.(508-510)GGG>AGG	p.G170R	SDS_uc001tvh.1_Missense_Mutation_p.G170R	NM_006843	NP_006834	P20132	SDHL_HUMAN	serine dehydratase	170					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			pancreas(1)	1					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AGCAGGCCCCCGCCGCCCACT	0.662													T	113835115	C	T	113835115	3	4	84	1	0	0	0	0	1	0	0	0	13975	652	23	1	490	1	SDS	12	113835115	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	4291	113835115	20016780	937	56480											
TBX5	6910	broad.mit.edu	37	chr12	114841672	114841672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctccagaggcgtgtgcGccaggccaaagccctcgtct	13	15	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:114841672G>A	uc001tvo.2	-	2	527	c.32C>T	c.(31-33)GCG>GTG	p.A11V	TBX5_uc001tvp.2_Missense_Mutation_p.A11V|TBX5_uc001tvq.2_Intron|TBX5_uc010syv.1_Missense_Mutation_p.A11V	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	11				GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		AGGCGTGTGCGCCAGGCCAAA	0.692													A	114841672	G	A	114841672	3	1	84	1	0	0	0	0	1	0	0	0	15658	1087	38	1	1623	1	TBX5	12	114841672	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1006557	114841672	19010223	938	56481											
MED13L	23389	broad.mit.edu	37	chr12	116429071	116429073	+	In_Frame_Del	DEL	GGA	GGA	-													aggttgtgtgtgttgattctGgaggaggaggagaaggctta							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:116429070_116429072TGGA>T	uc001tvw.3	-	16	3742_3744	c.3687_3689TCCA>A	c.(3685-3690)ctccag>ctAg	p.Q1230del		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1230					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GTGTTGATTCTGGAGGAGGAGGA	0.493													-	116429073	GGA	-	116429071	7	5	84	1	0	1	0	1	0	0	0	0	9431	1357	47	0	3004	0	MED13L	12	116429071	In_Frame_Del	DEL	GGA	TCGA-BR-8372-01A-11D-2340-08	1587399	116429071	17422824	939	56482											
FBXO21	23014	broad.mit.edu	37	chr12	117595816	117595816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaccaggtagcccaccGccccgtgctgccccgggtct	12	19	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:117595816G>A	uc001twk.2	-	10	1439	c.1400C>T	c.(1399-1401)GCG>GTG	p.A467V	FBXO21_uc001twj.2_Missense_Mutation_p.A460V|FBXO21_uc009zwq.2_Missense_Mutation_p.A400V|FBXO21_uc001twl.1_Missense_Mutation_p.A80V	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	467					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GTAGCCCACCGCCCCGTGCTG	0.532													A	117595816	G	A	117595816	3	1	84	1	0	0	0	0	1	0	0	0	5733	1087	38	1	498	1	FBXO21	12	117595816	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1166745	117595816	16256079	940	56483											
NOS1	4842	broad.mit.edu	37	chr12	117768159	117768159	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggagcttacctgtccaccTggattcccatatctttcatc	7	13	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:117768159T>C	uc001twm.1	-	2	1402	c.716A>G	c.(715-717)CAG>CGG	p.Q239R		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	239	PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCTGTCCACCTGGATTCCCAT	0.413													C	117768159	T	C	117768159	3	2	84	1	0	0	0	0	1	0	0	0	10541	1580	55	3	3700	3	NOS1	12	117768159	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	172343	117768159	16083736	941	56484											
SRRM4	84530	broad.mit.edu	37	chr12	119540084	119540084	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcccagctcaggatggaCcctcagaaaagctgggtcag	12	11	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:119540084C>A	uc001txa.1	+	2	467	c.175C>A	c.(175-177)CCC>ACC	p.P59T		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	59					cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						TCAGGATGGACCCTCAGAAAA	0.517													A	119540084	C	A	119540084	3	1	84	1	0	0	0	0	1	0	0	0	15170	507	18	5	181	5	SRRM4	12	119540084	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1771925	119540084	14311811	942	56485											
PLA2G1B	5319	broad.mit.edu	37	chr12	120763700	120763701	+	Frame_Shift_Ins	INS	-	-	A													gggggtgcctgagccccccaINSagccacagtagcagccgtag					rs78096484		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:120763699_120763700C>CA	uc001tyd.3	-	1	194_195	c.158_159G>TG	c.(157-159)ttgfs	p.L53fs	PLA2G1B_uc009zwx.3_Frame_Shift_Ins_p.L53fs	NM_000928	NP_000919	P04054	PA21B_HUMAN	Homo sapiens phospholipase A2, group IB (pancreas) (PLA2G1B), mRNA.	53					actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of DNA replication|positive regulation of NF-kappaB transcription factor activity|positive regulation of calcium ion transport into cytosol|positive regulation of immune response|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGAGCCCCCCAAGCCACAGTA	0.614											OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	120763701	-	A	120763700	7	5	84	1	0	1	1	0	0	0	0	0	11994	131	5	0	300	0	PLA2G1B	12	120763700	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	1223616	120763700	13088195	943	56486											
KDM2B	84678	broad.mit.edu	37	chr12	121878620	121878620	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcctggcaactcaccTggcctgttgtctgtgggcgg	13	15	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:121878620T>C	uc001uat.2	-	21	3713	c.3609A>G	c.(3607-3609)CCA>CCG	p.P1203P	KDM2B_uc001uaq.2_Silent_p.P643P|KDM2B_uc010szy.1_Silent_p.P643P|KDM2B_uc001uar.2_Silent_p.P794P|KDM2B_uc001uas.2_Silent_p.P1134P|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Silent_p.P451P|KDM2B_uc010szx.1_Silent_p.P451P|KDM2B_uc001uap.2_RNA	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	1203					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						GCAACTCACCTGGCCTGTTGT	0.612													C	121878620	T	C	121878620	2	2	84	1	0	0	0	0	0	0	0	1	8125	1594	55	3		3	KDM2B	12	121878620	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1114920	121878620	11973275	944	56487											
KDM2B	84678	broad.mit.edu	37	chr12	121881856	121881856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggcttctcgtatttccGcttcttcctcaggtgcacgt	10	13	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:121881856G>A	uc001uat.2	-	16	2514	c.2410C>T	c.(2410-2412)CGG>TGG	p.R804W	KDM2B_uc001uaq.2_Missense_Mutation_p.R244W|KDM2B_uc010szy.1_Missense_Mutation_p.R244W|KDM2B_uc001uar.2_Missense_Mutation_p.R395W|KDM2B_uc001uas.2_Missense_Mutation_p.R773W|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.R52W|KDM2B_uc010szx.1_Missense_Mutation_p.R52W|KDM2B_uc001uap.2_RNA	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	804					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						TCGTATTTCCGCTTCTTCCTC	0.657											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	121881856	G	A	121881856	3	1	84	1	0	0	0	0	1	0	0	0	8125	1086	38	1	1684	1	KDM2B	12	121881856	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	3236	121881856	11970039	945	56488											
RHOF	54509	broad.mit.edu	37	chr12	122217517	122217517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacattctcccgaaacttggCggaacattccaggtagagag	10	11	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:122217517C>T	uc001ubb.2	-	5	578	c.523G>A	c.(523-525)GCC>ACC	p.A175T	TMEM120B_uc001ubc.3_3'UTR|TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_RNA	NM_019034	NP_061907	Q9HBH0	RHOF_HUMAN	ras homolog gene family, member F precursor	175					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			ovary(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CGAAACTTGGCGGAACATTCC	0.642													T	122217517	C	T	122217517	3	4	84	1	0	0	0	0	1	0	0	0	13338	768	27	1	116	1	RHOF	12	122217517	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	335661	122217517	11634378	946	56489											
VPS33A	65082	broad.mit.edu	37	chr12	122735574	122735574	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatctgggggatcgttccatAcagagcttgcagggtcatca	13	9	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:122735574A>G	uc001ucd.2	-	5	669	c.556T>C	c.(556-558)TAT>CAT	p.Y186H	VPS33A_uc001ucc.2_Intron	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33A	186					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			skin(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		ATCGTTCCATACAGAGCTTGC	0.567													G	122735574	A	G	122735574	3	3	84	1	0	0	0	0	1	0	0	0	17198	391	14	3	1270	3	VPS33A	12	122735574	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	518057	122735574	11116321	947	56490											
SBNO1	55206	broad.mit.edu	37	chr12	123793937	123793937	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcccatgacattccccTctctacactaatctgtaaga	3	15	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:123793937T>C	uc010tap.1	-	27	3550	c.3550A>G	c.(3550-3552)AGG>GGG	p.R1184G	SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.R1183G|SBNO1_uc010taq.1_Missense_Mutation_p.R135G|SBNO1_uc001ues.1_Missense_Mutation_p.R135G	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	1184							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GACATTCCCCTCTCTACACTA	0.393													C	123793937	T	C	123793937	3	2	84	1	0	0	0	0	1	0	0	0	13862	1550	54	3	651	3	SBNO1	12	123793937	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1058363	123793937	10057958	948	56491											
FZD10	11211	broad.mit.edu	37	chr12	130647985	130647985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggctcgggcctgttcccGccgctgttccggccgcagcg	16	17	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:130647985G>A	uc001uii.2	+	1	954	c.498G>A	c.(496-498)CCG>CCA	p.P166P	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	166	Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GCCTGTTCCCGCCGCTGTTCC	0.612													A	130647985	G	A	130647985	2	1	84	1	0	0	0	0	0	0	0	1	6129	1074	38	1		1	FZD10	12	130647985	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	6854048	130647985	3203910	949	56492											
GPR133	283383	broad.mit.edu	37	chr12	131593316	131593316	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacactacttcttcctgagTgccttcgcatggatgctggt	9	12	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:131593316T>C	uc001uit.3	+	18	2494	c.1935T>C	c.(1933-1935)AGT>AGC	p.S645S	GPR133_uc010tbm.1_Silent_p.S677S|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Silent_p.S164S|GPR133_uc009zyp.2_RNA	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	645	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCTTCCTGAGTGCCTTCGCAT	0.547													C	131593316	T	C	131593316	2	2	84	1	0	0	0	0	0	0	0	1	6643	1693	59	3		3	GPR133	12	131593316	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	945331	131593316	2258579	950	56493											
SFRS8	6433	broad.mit.edu	37	chr12	132199458	132199458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagcgactattacgacccGtcagagccgacggaggagga	15	10	1	1	rs146187057	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:132199458G>A	uc001uja.1	+	3	620	c.480G>A	c.(478-480)CCG>CCA	p.P160P	SFRS8_uc010tbn.1_Silent_p.P160P|SFRS8_uc001ujb.1_5'UTR|SFRS8_uc001uiz.1_Silent_p.P34P	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	160					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		ATTACGACCCGTCAGAGCCGA	0.547													A	132199458	G	A	132199458	2	1	84	1	0	0	0	0	0	0	0	1	14183	1132	40	1		1	SFRS8	12	132199458	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	606142	132199458	1652437	951	56494											
ULK1	8408	broad.mit.edu	37	chr12	132400493	132400493	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgggctgccgcctgcacaGcgcccccaacctgtctgact	11	18	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:132400493G>T	uc001uje.2	+	19	1935	c.1667G>T	c.(1666-1668)AGC>ATC	p.S556I		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	556					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CGCCTGCACAGCGCCCCCAAC	0.697													T	132400493	G	T	132400493	3	4	84	1	0	0	0	0	1	0	0	0	16972	971	34	5	1741	5	ULK1	12	132400493	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	201035	132400493	1451402	952	56495											
EP400	57634	broad.mit.edu	37	chr12	132528817	132528817	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctggagcaggaggaggcGgagctcctgacctacacgcg	17	12	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:132528817G>A	uc001ujn.2	+	34	6581	c.6546G>A	c.(6544-6546)GCG>GCA	p.A2182A	EP400_uc001ujl.2_Silent_p.A2181A|EP400_uc001ujm.2_Silent_p.A2101A	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2218					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGGAGGAGGCGGAGCTCCTGA	0.667													A	132528817	G	A	132528817	2	1	84	1	0	0	0	0	0	0	0	1	5149	1103	39	1		1	EP400	12	132528817	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	128324	132528817	1323078	953	56496											
EP400	57634	broad.mit.edu	37	chr12	132539741	132539741	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgtcgccagtggctccTggggccttgactgtgagttg	16	11	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:132539741T>C	uc001ujn.2	+	44	7907	c.7872T>C	c.(7870-7872)CCT>CCC	p.P2624P	EP400_uc001ujl.2_Silent_p.P2623P|EP400_uc001ujm.2_Silent_p.P2543P	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2660	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGTGGCTCCTGGGGCCTTGA	0.527													C	132539741	T	C	132539741	2	2	84	1	0	0	0	0	0	0	0	1	5149	1567	55	3		3	EP400	12	132539741	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	10924	132539741	1312154	954	56497											
ZNF10	7556	broad.mit.edu	37	chr12	133733304	133733304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagagaaaccatatgaatGctgtcagtgtgggaaagcct	13	6	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:133733304G>A	uc009zzb.2	+	5	1919	c.1472G>A	c.(1471-1473)TGC>TAC	p.C491Y	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.C491Y	NM_015394	NP_056209	P21506	ZNF10_HUMAN	zinc finger protein 10	491	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CCATATGAATGCTGTCAGTGT	0.418													A	133733304	G	A	133733304	3	1	84	1	0	0	0	0	1	0	0	0	17709	1319	46	2	1486	2	ZNF10	12	133733304	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1193563	133733304	118591	955	56498											
ZNF268	10795	broad.mit.edu	37	chr12	133768141	133768141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggcagctgctagacccaGcacagaagtgcctgtacagg	13	11	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:133768141G>A	uc010tcf.1	+	4	631	c.301G>A	c.(301-303)GCA>ACA	p.A101T	ZNF268_uc010tbv.1_5'UTR|ZNF268_uc010tbw.1_Intron|ZNF268_uc010tbx.1_Intron|ZNF268_uc010tby.1_Intron|ZNF268_uc010tbz.1_5'UTR|ZNF268_uc010tca.1_5'UTR|ZNF268_uc010tcb.1_Intron|ZNF268_uc010tcc.1_Intron|ZNF268_uc010tcd.1_5'UTR|ZNF268_uc010tce.1_Intron|ZNF268_uc010tcg.1_5'UTR|ZNF268_uc010tch.1_Missense_Mutation_p.A101T	NM_003415	NP_003406	Q14587	ZN268_HUMAN	zinc finger protein 268 isoform a	101	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GCTAGACCCAGCACAGAAGTG	0.488													A	133768141	G	A	133768141	3	1	84	1	0	0	0	0	1	0	0	0	17804	971	34	2	311	2	ZNF268	12	133768141	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	34837	133768141	83754	956	56499											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20244467	20244467	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgtagtgtacaagctgtAgttctgaatgataaatttca	9	6	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:20244467A>G	uc001umh.2	+	12	2430	c.2421A>G	c.(2419-2421)GTA>GTG	p.V807V	MPHOSPH8_uc001umg.2_Silent_p.V807V	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	807					cell cycle	cytoplasm|nucleus					0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		TACAAGCTGTAGTTCTGAATG	0.383													G	20244467	A	G	20244467	2	3	84	1	0	0	0	0	0	0	0	1	9727	407	15	3		3	MPHOSPH8	13	20244467	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08		20244467	94925411	957	56500											
IL17D	53342	broad.mit.edu	37	chr13	21295832	21295832	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaagcctactgcctgtgCcggggctgcctgaccgggct	14	15	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:21295832C>T	uc001unm.2	+	3	456	c.348C>T	c.(346-348)TGC>TGT	p.C116C		NM_138284	NP_612141	Q8TAD2	IL17D_HUMAN	interleukin 17D precursor	116					inflammatory response	extracellular space	cytokine activity				0		all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414)		ACTGCCTGTGCCGGGGCTGCC	0.706													T	21295832	C	T	21295832	2	4	84	1	0	0	0	0	0	0	0	1	7637	747	26	2		2	IL17D	13	21295832	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1051365	21295832	93874046	958	56501											
LATS2	26524	broad.mit.edu	37	chr13	21563349	21563349	+	Frame_Shift_Del	DEL	G	G	-													ccgaagcttgggccctcgtaGggggtaccgctcagctggtg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:21563348_21563348AG>A	uc009zzs.3	-	3	936	c.571_571CT>T	c.(571-573)tacfs	p.Y191fs	LATS2_uc001unr.4_Frame_Shift_Del_p.Y191fs	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	191					G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGGCCCTCGTAGGGGGTACCG	0.682													-	21563349	G	-	21563349	7	5	84	1	0	1	0	1	0	0	0	0	8647	987	35	0	2716	0	LATS2	13	21563349	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	267517	21563349	93606529	959	56502											
LATS2	26524	broad.mit.edu	37	chr13	21563416	21563416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgaagctgggcctccgcGtcactggggttggcatgagc	15	12	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:21563416G>A	uc009zzs.2	-	4	868	c.503C>T	c.(502-504)ACG>ATG	p.T168M	LATS2_uc001unr.3_Missense_Mutation_p.T168M	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	168					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGGCCTCCGCGTCACTGGGGT	0.617													A	21563416	G	A	21563416	3	1	84	1	0	0	0	0	1	0	0	0	8647	1145	40	1	2783	1	LATS2	13	21563416	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	67	21563416	93606462	960	56503											
FGF9	2254	broad.mit.edu	37	chr13	22246259	22246259	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcagctatactgcaggActggatttcacttagaaatc	11	8	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:22246259A>G	uc001uog.2	+	1	1045	c.208A>G	c.(208-210)ACT>GCT	p.T70A		NM_002010	NP_002001	P31371	FGF9_HUMAN	fibroblast growth factor 9 precursor	70					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding				0		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		ATACTGCAGGACTGGATTTCA	0.527													G	22246259	A	G	22246259	3	3	84	1	0	0	0	0	1	0	0	0	5859	275	10	3	210	3	FGF9	13	22246259	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	682843	22246259	92923619	961	56504											
FGF9	2254	broad.mit.edu	37	chr13	22275330	22275330	+	Frame_Shift_Del	DEL	A	A	-													cctctttttctttttacaggAaaaactaacccaagagtgtg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:22275330delA	uc001uog.2	+	3	1220	c.383delA	c.(382-384)GAAfs	p.E128fs		NM_002010	NP_002001	P31371	FGF9_HUMAN	fibroblast growth factor 9 precursor	128					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding				0		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		TTTTTACAGGAAAAACTAACC	0.219													-	22275330	A	-	22275330	7	5	84	1	0	1	0	1	0	0	0	0	5859	260	9	0	393	0	FGF9	13	22275330	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	29071	22275330	92894548	962	56505											
SACS	26278	broad.mit.edu	37	chr13	23904309	23904309	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcataaaattttcaagttttAttatgatacaggcagtacat	6	5	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:23904309A>G	uc001uon.2	-	10	14295	c.13706T>C	c.(13705-13707)ATA>ACA	p.I4569T	SACS_uc001uoo.2_Missense_Mutation_p.I4422T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4569					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTCAAGTTTTATTATGATACA	0.358													G	23904309	A	G	23904309	3	3	84	1	0	0	0	0	1	0	0	0	13804	449	16	3	37	3	SACS	13	23904309	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1628979	23904309	91265569	963	56506											
FAM123A	219287	broad.mit.edu	37	chr13	25744572	25744572	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccggggacatgcttgtcacAgctgggacctgcctcttcct	11	15	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:25744572A>G	uc001uqb.2	-	1	1286	c.1186T>C	c.(1186-1188)TGT>CGT	p.C396R	FAM123A_uc001uqa.2_Missense_Mutation_p.C277R|FAM123A_uc001uqc.2_Missense_Mutation_p.C277R	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	396										ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGCTTGTCACAGCTGGGACCT	0.547													G	25744572	A	G	25744572	3	3	84	1	0	0	0	0	1	0	0	0	5422	188	7	3	833	3	FAM123A	13	25744572	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1840263	25744572	89425306	964	56507			1	24		4	4	1110	N	G_C_A	2.652693e-05
FAM123A	219287	broad.mit.edu	37	chr13	25745359	25745359	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgggttcggccgccccccGccgcccccgccgctgtcgcc	12	25	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:25745359G>A	uc001uqb.2	-	1	499	c.399C>T	c.(397-399)GGC>GGT	p.G133G	FAM123A_uc001uqa.2_Silent_p.G133G|FAM123A_uc001uqc.2_Silent_p.G133G	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	133	Gly-rich.									ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		gccgccccccgccgcccccgc	0.582													A	25745359	G	A	25745359	2	1	84	1	0	0	0	0	0	0	0	1	5422	1074	38	1		1	FAM123A	13	25745359	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	787	25745359	89424519	965	56508			1	24		4	4	1110	N	G_C_A	2.652693e-05
FAM123A	219287	broad.mit.edu	37	chr13	25745594	25745594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccccgacggcggctcggcgGccggcgtttcggcggcacag	17	16	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:25745594G>T	uc001uqb.2	-	1	264	c.164C>A	c.(163-165)GCC>GAC	p.A55D	FAM123A_uc001uqa.2_Missense_Mutation_p.A55D|FAM123A_uc001uqc.2_Missense_Mutation_p.A55D	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	55	Gly-rich.									ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CGGCTCGGCGGCCGGCGTTTC	0.607													T	25745594	G	T	25745594	3	4	84	1	0	0	0	0	1	0	0	0	5422	1203	42	5	1855	5	FAM123A	13	25745594	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	235	25745594	89424284	966	56509			1	24		4	4	1110	N	G_C_A	2.652693e-05
FAM123A	219287	broad.mit.edu	37	chr13	25745681	25745681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcctccgccttcctcctgCagacccccacggacgcgcca	9	22	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:25745681C>T	uc001uqb.2	-	1	177	c.77G>A	c.(76-78)TGC>TAC	p.C26Y	FAM123A_uc001uqa.2_Missense_Mutation_p.C26Y|FAM123A_uc001uqc.2_Missense_Mutation_p.C26Y	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	26	Gly-rich.									ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTTCCTCCTGCAGACCCCCAC	0.751													T	25745681	C	T	25745681	3	4	84	1	0	0	0	0	1	0	0	0	5422	710	25	2	1942	2	FAM123A	13	25745681	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	87	25745681	89424197	967	56510			1	24		4	4	1110	N	G_C_A	2.652693e-05
SLC7A1	6541	broad.mit.edu	37	chr13	30104719	30104719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttcccaaaatcctcctcCgtgagctgccagtttttaac	7	13	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:30104719C>T	uc001uso.2	-	5	1047	c.660G>A	c.(658-660)ACG>ACA	p.T220T		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	220	Extracellular (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AATCCTCCTCCGTGAGCTGCC	0.418													T	30104719	C	T	30104719	2	4	84	1	0	0	0	0	0	0	0	1	14692	639	23	1		1	SLC7A1	13	30104719	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	4359038	30104719	85065159	968	56511											
DCLK1	9201	broad.mit.edu	37	chr13	36699971	36699971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgttctcactccctgggGcaaattcacgttatccgaca	8	12	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:36699971G>A	uc001uvf.2	-	2	537	c.304C>T	c.(304-306)CCC>TCC	p.P102S		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	102	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ACTCCCTGGGGCAAATTCACG	0.527													A	36699971	G	A	36699971	3	1	84	1	0	0	0	0	1	0	0	0	4291	1203	42	2	1953	2	DCLK1	13	36699971	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	6595252	36699971	78469907	969	56512											
EXOSC8	11340	broad.mit.edu	37	chr13	37581201	37581201	+	Frame_Shift_Del	DEL	A	A	-													tttgctttgctagcggctttAaaaaatggtaagcagcctta							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:37581201delA	uc001uwa.2	+	8	745	c.480delA	c.(478-480)TTAfs	p.L160fs	EXOSC8_uc001uvz.2_RNA|EXOSC8_uc001uwb.2_Frame_Shift_Del_p.L160fs|EXOSC8_uc001uwc.2_RNA	NM_181503	NP_852480	Q96B26	EXOS8_HUMAN	exosome component 8	160					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			pancreas(1)	1		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		TAGCGGCTTTAAAAAATGGTA	0.378													-	37581201	A	-	37581201	7	5	84	1	0	1	0	1	0	0	0	0	5320	359	13	0	510	0	EXOSC8	13	37581201	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	881230	37581201	77588677	970	56513											
TRPC4	7223	broad.mit.edu	37	chr13	38357091	38357091	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaactgtatttttgcaggtAcctgtttttctccactaggt	7	8	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:38357091A>G	uc001uws.2	-	2	613	c.378_splice	c.e2+1	p.Q126_splice	TRPC4_uc010abv.2_Intron|TRPC4_uc001uwt.2_Splice_Site_p.Q126_splice|TRPC4_uc010tey.1_Splice_Site_p.Q126_splice|TRPC4_uc010abw.2_Splice_Site_p.Q126_splice|TRPC4_uc010abx.2_Splice_Site_p.Q126_splice|TRPC4_uc010aby.2_Splice_Site_p.Q126_splice	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,						axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTTTGCAGGTACCTGTTTTTC	0.303													G	38357091	A	G	38357091	5	3	84	1	0	0	0	0	0	0	1	0	16577	405	14	3	2608	3	TRPC4	13	38357091	Splice_Site	SNP	A	TCGA-BR-8372-01A-11D-2340-08	775890	38357091	76812787	971	56514											
FREM2	341640	broad.mit.edu	37	chr13	39266588	39266589	+	Frame_Shift_Ins	INS	-	-	C													tagatttatcgtgacagaggINScccctcaacatggatatctt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:39266588_39266589insC	uc001uwv.2	+	1	5416_5417	c.5107_5108insC	c.(5107-5109)GCCfs	p.A1703fs		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1703	Extracellular (Potential).|CSPG 12.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CGTGACAGAGGCCCCTCAACAT	0.431													C	39266589	-	C	39266588	7	5	84	1	0	1	1	0	0	0	0	0	6045	1203	42	0	5109	0	FREM2	13	39266588	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	909497	39266588	75903290	972	56515	243	2									
FREM2	341640	broad.mit.edu	37	chr13	39266589	39266590	+	Frame_Shift_Ins	INS	-	-	C													agatttatcgtgacagaggcINSccctcaacatggatatcttc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:39266588_39266589G>GC	uc001uwv.3	+	0	5416_5417	c.5107_5108G>GC	c.(5107-5109)gccfs	p.A1703fs		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1703					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CGTGACAGAGGCCCCTCAACAT	0.431													C	39266590	-	C	39266589	7	5	84	1	0	1	1	0	0	0	0	0	6045	739	26	0	5110	0	FREM2	13	39266589	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	1	39266589	75903289	973	56516	243	2									
ELF1	1997	broad.mit.edu	37	chr13	41556143	41556143	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgttcatcctccatgacgttActagcaaattcaaatactag	5	11	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:41556143A>G	uc001uxs.2	-	2	421	c.48T>C	c.(46-48)AGT>AGC	p.S16S	ELF1_uc010tfc.1_Silent_p.S16S|ELF1_uc010acd.2_5'UTR	NM_172373	NP_758961	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription	16					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CCATGACGTTACTAGCAAATT	0.333													G	41556143	A	G	41556143	2	3	84	1	0	0	0	0	0	0	0	1	5053	388	14	3		3	ELF1	13	41556143	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2289554	41556143	73613735	974	56517											
RCBTB2	1102	broad.mit.edu	37	chr13	49084763	49084763	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtgaaaatgcccgtgttAcctgtccttttccacagtga	8	11	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:49084763A>G	uc001vch.2	-	10	1297	c.926_splice	c.e10+1	p.R309_splice	RCBTB2_uc010tgg.1_Splice_Site_p.R314_splice|RCBTB2_uc001vci.2_Splice_Site_p.R285_splice|RCBTB2_uc010tgh.1_Intron|RCBTB2_uc001vcj.2_Intron|RCBTB2_uc010acv.1_Splice_Site|RCBTB2_uc010tgi.1_Intron	NM_001268	NP_001259	O95199	RCBT2_HUMAN	regulator of chromosome condensation and BTB								Ran guanyl-nucleotide exchange factor activity			ovary(2)|lung(2)|skin(1)	5		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TGCCCGTGTTACCTGTCCTTT	0.463													G	49084763	A	G	49084763	5	3	84	1	0	0	0	0	0	0	1	0	13172	405	14	3	751	3	RCBTB2	13	49084763	Splice_Site	SNP	A	TCGA-BR-8372-01A-11D-2340-08	7528620	49084763	66085115	975	56518											
FAM124A	220108	broad.mit.edu	37	chr13	51826207	51826207	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgcccggtgcccaccgActcctccgtgctggagttcc	11	18	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:51826207A>G	uc001vfg.1	+	3	835	c.704A>G	c.(703-705)GAC>GGC	p.D235G	FAM124A_uc001vfe.2_Missense_Mutation_p.D235G|FAM124A_uc001vff.1_Missense_Mutation_p.D271G	NM_145019	NP_659456	Q86V42	F124A_HUMAN	hypothetical protein LOC220108	235										central_nervous_system(1)	1		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GTGCCCACCGACTCCTCCGTG	0.602													G	51826207	A	G	51826207	3	3	84	1	0	0	0	0	1	0	0	0	5425	275	10	3	826	3	FAM124A	13	51826207	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2741444	51826207	63343671	976	56519											
PCDH20	64881	broad.mit.edu	37	chr13	61987108	61987108	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttaatgactccagtgtttTcatccaggtgaaataaatcc	7	8	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:61987108T>C	uc001vid.3	-	2	1488	c.1124A>G	c.(1123-1125)GAA>GGA	p.E375G	PCDH20_uc010thj.1_Missense_Mutation_p.E375G	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	348	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TCCAGTGTTTTCATCCAGGTG	0.438													C	61987108	T	C	61987108	3	2	84	1	0	0	0	0	1	0	0	0	11515	1783	62	3	1735	3	PCDH20	13	61987108	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	10160901	61987108	53182770	977	56520											
PCDH9	5101	broad.mit.edu	37	chr13	67801071	67801071	+	Frame_Shift_Del	DEL	T	T	-													gctgataaacaatgtctgcaTttttcccactgtcttcatct							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:67801070_67801070AT>A	uc001vik.3	-	1	2195	c.1503_1503AT>T	c.(1501-1503)aatfs	p.N501fs	PCDH9_uc001vil.3_Frame_Shift_Del_p.N501fs|PCDH9_uc010thl.2_Frame_Shift_Del_p.N501fs|PCDH9_uc001vin.3_Frame_Shift_Del_p.N501fs	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	501	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CAATGTCTGCATTTTTCCCAC	0.423													-	67801071	T	-	67801071	7	5	84	1	0	1	0	1	0	0	0	0	11518	1493	52	0	2227	0	PCDH9	13	67801071	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	5813963	67801071	47368807	978	56521											
LMO7	4008	broad.mit.edu	37	chr13	76378615	76378615	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaaagccagacaaacaTgaggataacagaagaagttg	10	5	0	5			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:76378615T>C	uc001vjv.2	+	5	913	c.153T>C	c.(151-153)CAT>CAC	p.H51H	LMO7_uc010thv.1_Silent_p.H336H|LMO7_uc001vjt.1_Silent_p.H284H|LMO7_uc010thw.1_Silent_p.H245H|LMO7_uc001vjw.1_Silent_p.H51H|LMO7_uc001vju.1_RNA	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	336						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CAGACAAACATGAGGATAACA	0.423													C	76378615	T	C	76378615	2	2	84	1	0	0	0	0	0	0	0	1	8855	1461	51	3		3	LMO7	13	76378615	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	8577544	76378615	38791263	979	56522											
EDNRB	1910	broad.mit.edu	37	chr13	78492668	78492668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgcaggcaagaaccagcGcaaccagggcgcgtccgcac	14	16	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:78492668G>A	uc001vko.2	-	1	299	c.41C>T	c.(40-42)GCG>GTG	p.A14V	uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.A14V|EDNRB_uc010aez.1_Missense_Mutation_p.A14V|EDNRB_uc001vkp.1_Missense_Mutation_p.A97V|EDNRB_uc010afa.1_Missense_Mutation_p.A14V	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	14					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	AAGAACCAGCGCAACCAGGGC	0.637											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	78492668	G	A	78492668	3	1	84	1	0	0	0	0	1	0	0	0	4920	1087	38	1	1436	1	EDNRB	13	78492668	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	2114053	78492668	36677210	980	56523											
GPC6	10082	broad.mit.edu	37	chr13	94197638	94197638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagacaagccattttgtgCgcaccacttttgtgtccagg	10	10	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:94197638C>T	uc001vlt.2	+	2	915	c.283C>T	c.(283-285)CGC>TGC	p.R95C	GPC6_uc010tig.1_Missense_Mutation_p.R95C|GPC6_uc001vlu.1_Missense_Mutation_p.R25C	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	95						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CCATTTTGTGCGCACCACTTT	0.398													T	94197638	C	T	94197638	3	4	84	1	0	0	0	0	1	0	0	0	6602	768	27	1	289	1	GPC6	13	94197638	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	15704970	94197638	20972240	981	56524											
TGDS	23483	broad.mit.edu	37	chr13	95235385	95235385	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catatacttcatctgtgctgAcataaataaacttctccact	3	11	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:95235385A>G	uc001vlw.2	-	5	540	c.419T>C	c.(418-420)GTC>GCC	p.V140A	TGDS_uc001vlx.2_RNA	NM_014305	NP_055120	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	140					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ATCTGTGCTGACATAAATAAA	0.368													G	95235385	A	G	95235385	3	3	84	1	0	0	0	0	1	0	0	0	15811	275	10	3	665	3	TGDS	13	95235385	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1037747	95235385	19934493	982	56525											
HS6ST3	266722	broad.mit.edu	37	chr13	96743228	96743228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctcctgcaccaacttcGgggagcagccccgcgcgggg	14	17	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:96743228G>A	uc001vmw.2	+	1	136	c.112G>A	c.(112-114)GGG>AGG	p.G38R		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	38	Lumenal (Potential).					integral to membrane	sulfotransferase activity			ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CACCAACTTCGGGGAGCAgcc	0.318													A	96743228	G	A	96743228	3	1	84	1	0	0	0	0	1	0	0	0	7372	1116	39	1	114	1	HS6ST3	13	96743228	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1507843	96743228	18426650	983	56526											
HS6ST3	266722	broad.mit.edu	37	chr13	97485036	97485036	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgaacgagagtgaaagaAacaccatcctgttgcagagt	10	8	1	5			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:97485036A>C	uc001vmw.2	+	2	1024	c.1000A>C	c.(1000-1002)AAC>CAC	p.N334H		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	334	Lumenal (Potential).					integral to membrane	sulfotransferase activity			ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GAGTGAAAGAAACACCATCCT	0.493													C	97485036	A	C	97485036	3	2	84	1	0	0	0	0	1	0	0	0	7372	14	1	5	1006	5	HS6ST3	13	97485036	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	741808	97485036	17684842	984	56527											
GPR18	2841	broad.mit.edu	37	chr13	99907196	99907196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatcggaaactttttctgcGcatgcttcgaaggtaattac	9	8	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:99907196G>A	uc001voe.3	-	3	1432	c.931C>T	c.(931-933)CGC>TGC	p.R311C	UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron|GPR18_uc010afv.2_Missense_Mutation_p.R311C	NM_005292	NP_005283	Q14330	GPR18_HUMAN	G protein-coupled receptor 18	311	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	CTTTTTCTGCGCATGCTTCGA	0.378													A	99907196	G	A	99907196	3	1	84	1	0	0	0	0	1	0	0	0	6675	1087	38	1	68	1	GPR18	13	99907196	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	2422160	99907196	15262682	985	56528											
NALCN	259232	broad.mit.edu	37	chr13	101735497	101735497	+	Frame_Shift_Del	DEL	A	A	-													agtaatgcgattgtcctcttAaaaaatggatgctgggttat							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:101735497delA	uc001vox.1	-	32	3825	c.3636delT	c.(3634-3636)TTTfs	p.F1212fs		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1212	Helical; Name=S1 of repeat IV; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGTCCTCTTAAAAAATGGAT	0.418													-	101735497	A	-	101735497	7	5	84	1	0	1	0	1	0	0	0	0	10148	359	13	0	1632	0	NALCN	13	101735497	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	1828301	101735497	13434381	986	56529											
NALCN	259232	broad.mit.edu	37	chr13	101997731	101997732	+	Frame_Shift_Ins	INS	-	-	GT													tcttctagctctggtgagcaINSgtgtgtgtctggaatagcta							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:101997731_101997732insGT	uc001vox.1	-	7	873_874	c.684_685insAC	c.(682-687)CACTGCfs	p.H228fs	NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Frame_Shift_Ins_p.H228fs|NALCN_uc001vpa.2_Frame_Shift_Ins_p.H228fs	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	228_229	Extracellular (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTGGTGAGCAGTGTGTGTCTG	0.431													GT	101997732	-	GT	101997731	7	5	84	1	0	1	1	0	0	0	0	0	10148	188	7	0	4683	0	NALCN	13	101997731	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	262234	101997731	13172147	987	56530	244	2									
NALCN	259232	broad.mit.edu	37	chr13	101997732	101997733	+	Frame_Shift_Ins	INS	-	-	GT													cttctagctctggtgagcagINStgtgtgtctggaatagctaa							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:101997731_101997732A>AGT	uc001vox.1	-	6	873_874	c.684_685T>ACT	c.(682-687)cactgcfs	p.H228fs	NALCN_uc001voy.3_5'UTR|NALCN_uc001voz.2_Frame_Shift_Ins_p.H228fs|NALCN_uc001vpa.2_Frame_Shift_Ins_p.H228fs	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	228						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTGGTGAGCAGTGTGTGTCTG	0.431													GT	101997733	-	GT	101997732	7	5	84	1	0	1	1	0	0	0	0	0	10148	1020	36	0	4684	0	NALCN	13	101997732	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	1	101997732	13172146	988	56531	244	2									
FAM155A	728215	broad.mit.edu	37	chr13	108518338	108518339	+	Frame_Shift_Ins	INS	-	-	C													ctcctcacctcctgcccgtcINSccccccggccgccccccgac							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:108518337_108518338T>TC	uc001vql.3	-	0	1123_1124	c.607_608A>GA	c.(607-609)gacfs	p.D203fs		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	203						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTCCTGCCCGTCCCCCCCGGCC	0.609													C	108518339	-	C	108518338	7	5	84	1	0	1	1	0	0	0	0	0	5465	855	30	0	781	0	FAM155A	13	108518338	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	6520606	108518338	6651540	989	56532											
COL4A1	1282	broad.mit.edu	37	chr13	110804758	110804758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taattgcaggtcccacggccGtgacactcgatgaatggcgc	12	12	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:110804758G>A	uc001vqw.3	-	51	4973	c.4851C>T	c.(4849-4851)CAC>CAT	p.H1617H	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1617	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCCCACGGCCGTGACACTCGA	0.572													A	110804758	G	A	110804758	2	1	84	1	0	0	0	0	0	0	0	1	3689	1136	40	1		1	COL4A1	13	110804758	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	2286420	110804758	4365120	990	56533											
COL4A1	1282	broad.mit.edu	37	chr13	110833685	110833685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtaagccattaaatcccGggcgacctggagtccccggt	12	13	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:110833685G>A	uc001vqw.3	-	29	2269	c.2147C>T	c.(2146-2148)CCG>CTG	p.P716L	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	716	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			ATTAAATCCCGGGCGACCTGG	0.498													A	110833685	G	A	110833685	3	1	84	1	0	0	0	0	1	0	0	0	3689	1116	39	1	2958	1	COL4A1	13	110833685	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	28927	110833685	4336193	991	56534											
COL4A1	1282	broad.mit.edu	37	chr13	110857865	110857865	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccctttttcccctttgtcAccatcttttccgggtttgcc	5	16	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:110857865A>G	uc001vqw.3	-	16	1001	c.879T>C	c.(877-879)GGT>GGC	p.G293G	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	293	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCCTTTGTCACCATCTTTTC	0.363													G	110857865	A	G	110857865	2	3	84	1	0	0	0	0	0	0	0	1	3689	146	6	3		3	COL4A1	13	110857865	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	24180	110857865	4312013	992	56535											
MCF2L	23263	broad.mit.edu	37	chr13	113736828	113736828	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggatgttttgtttggaaacAtggaggaaatctatcacttc	10	5	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:113736828A>G	uc001vsu.2	+	17	2156	c.2134A>G	c.(2134-2136)ATG>GTG	p.M712V	MCF2L_uc001vsq.2_Missense_Mutation_p.M712V|MCF2L_uc010tjr.1_Missense_Mutation_p.M655V|MCF2L_uc001vsr.2_Missense_Mutation_p.M659V|MCF2L_uc001vss.3_Missense_Mutation_p.M653V|MCF2L_uc010tjs.1_Missense_Mutation_p.M653V|MCF2L_uc001vst.1_Missense_Mutation_p.M617V	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	685	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GTTTGGAAACATGGAGGAAAT	0.562													G	113736828	A	G	113736828	3	3	84	1	0	0	0	0	1	0	0	0	9379	217	8	3	2295	3	MCF2L	13	113736828	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2878963	113736828	1433050	993	56536											
TFDP1	7027	broad.mit.edu	37	chr13	114292142	114292142	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccttttcagaaatggctcAgggaactgttggaggcgtgt	13	8	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:114292142A>G	uc001vtw.2	+	11	1228	c.1016A>G	c.(1015-1017)CAG>CGG	p.Q339R	TFDP1_uc010tkd.1_Missense_Mutation_p.Q244R|TFDP1_uc010tke.1_Missense_Mutation_p.Q310R|TFDP1_uc001vty.3_Missense_Mutation_p.Q339R|TFDP1_uc001vtx.2_Intron	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	transcription factor Dp-1	339					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			lung(4)|ovary(2)|skin(1)	7	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GAAATGGCTCAGGGAACTGTT	0.512										TSP Lung(29;0.18)			G	114292142	A	G	114292142	3	3	84	1	0	0	0	0	1	0	0	0	15794	188	7	3	1054	3	TFDP1	13	114292142	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	555314	114292142	877736	994	56537											
CDC16	8881	broad.mit.edu	37	chr13	115012445	115012445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgttactatctcatggtcGgtcataaaaatgaacatgcc	8	8	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:115012445G>A	uc001vuk.1	+	11	1135	c.937G>A	c.(937-939)GGT>AGT	p.G313S	CDC16_uc001vul.1_Missense_Mutation_p.G313S|CDC16_uc001vum.1_Missense_Mutation_p.G219S|CDC16_uc001vun.1_Missense_Mutation_p.G312S|CDC16_uc001vuo.1_Missense_Mutation_p.G312S	NM_003903	NP_003894	Q13042	CDC16_HUMAN	anaphase-promoting complex, subunit 6	313	TPR 2.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding				0	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			TCTCATGGTCGGTCATAAAAA	0.333													A	115012445	G	A	115012445	3	1	84	1	0	0	0	0	1	0	0	0	3058	1116	39	1	979	1	CDC16	13	115012445	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	720303	115012445	157433	995	56538											
POTEG	404785	broad.mit.edu	37	chr14	19553817	19553817	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcatggagccgaggtaccAcgtccgtcgagaagatctgg	13	10	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:19553817A>G	uc001vuz.1	+	1	453	c.401A>G	c.(400-402)CAC>CGC	p.H134R	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	134										ovary(1)	1						CCGAGGTACCACGTCCGTCGA	0.587													G	19553817	A	G	19553817	3	3	84	1	0	0	0	0	1	0	0	0	12266	159	6	3	403	3	POTEG	14	19553817	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08		19553817	87795723	996	56539											
OR4N5	390437	broad.mit.edu	37	chr14	20612024	20612024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcctccctggaaatttcCtcatcattttcaccataaag	3	13	4	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:20612024C>T	uc010tla.1	+	1	130	c.130C>T	c.(130-132)CTC>TTC	p.L44F		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N,	44	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGAAATTTCCTCATCATTTT	0.443													T	20612024	C	T	20612024	3	4	84	1	0	0	0	0	1	0	0	0	11079	681	24	4	132	4	OR4N5	14	20612024	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1058207	20612024	86737516	997	56540											
NDRG2	57447	broad.mit.edu	37	chr14	21488109	21488109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgtccaaggatcatctcCggaatggaagaggtgaggcc	14	8	2	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:21488109C>T	uc001vyy.2	-	10	732	c.582G>A	c.(580-582)CCG>CCA	p.P194P	NDRG2_uc010tll.1_Silent_p.P190P|NDRG2_uc001vyt.2_Silent_p.P107P|NDRG2_uc001vyu.2_Silent_p.P151P|NDRG2_uc001vyv.2_Silent_p.P180P|NDRG2_uc001vyw.2_Silent_p.P180P|NDRG2_uc001vzb.2_Silent_p.P134P|NDRG2_uc001vyx.2_Silent_p.P194P|NDRG2_uc001vza.2_Silent_p.P180P|NDRG2_uc001vyz.2_Silent_p.P180P|NDRG2_uc001vzc.2_Silent_p.P180P|NDRG2_uc001vze.2_Silent_p.P194P|NDRG2_uc001vzd.2_Silent_p.P194P|NDRG2_uc001vzg.2_Silent_p.P180P|NDRG2_uc001vzf.2_Silent_p.P180P|NDRG2_uc010aig.2_Silent_p.P194P	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	N-myc downstream-regulated gene 2 isoform a	194					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				ovary(1)|breast(1)	2	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GGATCATCTCCGGAATGGAAG	0.408													T	21488109	C	T	21488109	2	4	84	1	0	0	0	0	0	0	0	1	10252	639	23	1		1	NDRG2	14	21488109	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	876085	21488109	85861431	998	56541											
TOX4	9878	broad.mit.edu	37	chr14	21957487	21957487	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgccatcaagggacagaaTcctaatgccacttttggtga	10	10	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:21957487T>C	uc001waz.2	+	5	838	c.735T>C	c.(733-735)AAT>AAC	p.N245N	TOX4_uc001way.2_Silent_p.N115N|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Silent_p.N222N|TOX4_uc010tlv.1_Silent_p.N115N	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	245	HMG box.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			ovary(1)	1	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGGGACAGAATCCTAATGCCA	0.408													C	21957487	T	C	21957487	2	2	84	1	0	0	0	0	0	0	0	1	16377	1432	50	3		3	TOX4	14	21957487	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	469378	21957487	85392053	999	56542											
TOX4	9878	broad.mit.edu	37	chr14	21957499	21957499	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacagaatcctaatgccacTtttggtgaggtttcaaaaat	9	7	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:21957499T>C	uc001waz.2	+	5	850	c.747T>C	c.(745-747)ACT>ACC	p.T249T	TOX4_uc001way.2_Silent_p.T119T|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Silent_p.T226T|TOX4_uc010tlv.1_Silent_p.T119T	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	249	HMG box.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			ovary(1)	1	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CTAATGCCACTTTTGGTGAGG	0.413													C	21957499	T	C	21957499	2	2	84	1	0	0	0	0	0	0	0	1	16377	1596	56	3		3	TOX4	14	21957499	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	12	21957499	85392041	1000	56543											
SALL2	6297	broad.mit.edu	37	chr14	21993380	21993380	+	Frame_Shift_Del	DEL	G	G	-													gagggggtggtggaggaggaGggggtgcaggggtcgattct							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:21993379_21993379AG>A	uc001wbe.3	-	1	765	c.483_483CT>T	c.(481-483)cctfs	p.P161fs	SALL2_uc010tly.2_Frame_Shift_Del_p.P159fs|SALL2_uc010tlz.1_Intron|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Intron|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	161	Poly-Pro.						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GTGGAGGAGGAGGGGGTGCAG	0.657													-	21993380	G	-	21993380	7	5	84	1	0	1	0	1	0	0	0	0	13811	1000	35	0	2545	0	SALL2	14	21993380	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	35881	21993380	85356160	1001	56544											
C14orf93	60686	broad.mit.edu	37	chr14	23468135	23468135	+	Frame_Shift_Del	DEL	G	G	-													gattcccaccctgggagcctGtgttgcctccattagtctca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:23468135delG	uc001wib.1	-	2	408	c.98delC	c.(97-99)ACAfs	p.T33fs	C14orf93_uc001wic.1_Intron|C14orf93_uc001wid.1_Frame_Shift_Del_p.T33fs|C14orf93_uc001wig.2_Frame_Shift_Del_p.T33fs|C14orf93_uc001wih.2_Frame_Shift_Del_p.T33fs|C14orf93_uc001wie.2_Frame_Shift_Del_p.T33fs|C14orf93_uc001wia.3_Frame_Shift_Del_p.T33fs|C14orf93_uc001wif.2_Intron	NM_021944	NP_068763	Q9H972	CN093_HUMAN	hypothetical protein LOC60686 precursor	33						extracellular region				ovary(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CTGGGAGCCTGTGTTGCCTCC	0.582													-	23468135	G	-	23468135	7	5	84	1	0	1	0	1	0	0	0	0	1782	1377	48	0	1542	0	C14orf93	14	23468135	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	1474755	23468135	83881405	1002	56545											
DCAF11	80344	broad.mit.edu	37	chr14	24586179	24586179	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaaatttacaattcattcAggccctcttggactcagagg	8	10	4	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:24586179A>G	uc001wlv.2	+	3	489	c.209A>G	c.(208-210)CAG>CGG	p.Q70R	NRL_uc001wlq.2_5'Flank|DCAF11_uc001wlw.2_Missense_Mutation_p.Q70R|DCAF11_uc001wlz.2_5'UTR|DCAF11_uc001wly.2_Missense_Mutation_p.Q26R|DCAF11_uc001wme.2_Splice_Site_p.R52_splice|DCAF11_uc010tny.1_Splice_Site|DCAF11_uc001wmd.2_Missense_Mutation_p.Q70R|DCAF11_uc001wmc.2_5'UTR|DCAF11_uc001wmb.3_Splice_Site_p.A45_splice|DCAF11_uc001wma.3_Missense_Mutation_p.Q70R	NM_001163484	NP_001156956	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11 isoform 1	70						CUL4 RING ubiquitin ligase complex	protein binding				0						CAATTCATTCAGGCCCTCTTG	0.517													G	24586179	A	G	24586179	3	3	84	1	0	0	0	0	1	0	0	0	4262	202	7	3	215	3	DCAF11	14	24586179	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1118044	24586179	82763361	1003	56546											
IRF9	10379	broad.mit.edu	37	chr14	24631403	24631403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaactccggaactgggtggTggagcaagtggagagtgggc	18	6	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:24631403T>C	uc001wmq.2	+	2	177	c.50T>C	c.(49-51)GTG>GCG	p.V17A	RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_5'Flank	NM_006084	NP_006075	Q00978	IRF9_HUMAN	interferon-stimulated transcription factor 3,	17	IRF tryptophan pentad repeat.				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00853)		AACTGGGTGGTGGAGCAAGTG	0.562													C	24631403	T	C	24631403	3	2	84	1	0	0	0	0	1	0	0	0	7837	1696	59	3	52	3	IRF9	14	24631403	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	45224	24631403	82718137	1004	56547											
REC8	9985	broad.mit.edu	37	chr14	24648032	24648032	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggacccattgtgcccaGccacccccaaaagccctcag	7	19	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:24648032G>A	uc001wmr.2	+	16	1540	c.1113G>A	c.(1111-1113)CAG>CAA	p.Q371Q	REC8_uc001wms.2_Silent_p.Q371Q	NM_005132	NP_005123	O95072	REC8_HUMAN	REC8 homolog	371	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm					0				GBM - Glioblastoma multiforme(265;0.00839)		ATTGTGCCCAGCCACCCCCAA	0.587													A	24648032	G	A	24648032	2	1	84	1	0	0	0	0	0	0	0	1	13199	962	34	2		2	REC8	14	24648032	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	16629	24648032	82701508	1005	56548											
C14orf21	161424	broad.mit.edu	37	chr14	24771314	24771314	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcctcagtagatggcaggTatggtcagggcctcaggatc	14	9	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:24771314T>C	uc001wol.1	+	4	1013	c.950_splice	c.e4+2	p.S317_splice	C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.1_5'Flank|DHRS1_uc001wok.2_5'Flank	NM_174913	NP_777573	Q86U38	CN021_HUMAN	hypothetical protein LOC161424								RNA binding			breast(2)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(265;0.0185)		AGATGGCAGGTATGGTCAGGG	0.488													C	24771314	T	C	24771314	5	2	84	1	0	0	0	0	0	0	1	0	1769	1652	57	3	966	3	C14orf21	14	24771314	Splice_Site	SNP	T	TCGA-BR-8372-01A-11D-2340-08	123282	24771314	82578226	1006	56549											
CBLN3	643866	broad.mit.edu	37	chr14	24897157	24897157	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggatcattggcaaaggcTgagatgacaggccacgtgtt	13	8	2	2	rs144101051		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:24897157T>C	uc001wpg.3	-	3	927	c.456A>G	c.(454-456)TCA>TCG	p.S152S	KHNYN_uc010tpc.1_5'Flank|KHNYN_uc001wph.3_5'Flank|KHNYN_uc010alw.2_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	152	Necessary for interaction with CBLN3, and homotrimerization (By similarity).|C1q.					cell junction|extracellular region|synapse				central_nervous_system(1)	1				GBM - Glioblastoma multiforme(265;0.00159)		TGGCAAAGGCTGAGATGACAG	0.642													C	24897157	T	C	24897157	2	2	84	1	0	0	0	0	0	0	0	1	2706	1567	55	3		3	CBLN3	14	24897157	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	125843	24897157	82452383	1007	56550											
KHNYN	23351	broad.mit.edu	37	chr14	24905387	24905387	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcaatcatcagagaacggTgagggagccctcccgctgag	14	11	2	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:24905387T>C	uc001wph.3	+	6	1887	c.1685_splice	c.e6+2	p.R562_splice	KHNYN_uc010tpc.1_Splice_Site_p.R603_splice|KHNYN_uc010alw.2_Splice_Site_p.R562_splice	NM_015299	NP_056114	O15037	KHNYN_HUMAN	hypothetical protein LOC23351											ovary(2)|liver(1)	3						CAGAGAACGGTGAGGGAGCCC	0.542											OREG0022628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	24905387	T	C	24905387	5	2	84	1	0	0	0	0	0	0	1	0	8150	1710	59	3	1705	3	KHNYN	14	24905387	Splice_Site	SNP	T	TCGA-BR-8372-01A-11D-2340-08	8230	24905387	82444153	1008	56551											
STRN3	29966	broad.mit.edu	37	chr14	31398422	31398423	+	Frame_Shift_Ins	INS	-	-	C													ttactcttcacccctttcttINScccctttcgttccttcttgt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:31398422_31398423insC	uc001wqu.2	-	8	1299_1300	c.1083_1084insG	c.(1081-1086)GGGAAGfs	p.G361fs	STRN3_uc001wqv.2_Intron|STRN3_uc010tpj.1_Intron	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	nuclear autoantigen isoform 1	361_362					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ACCCCTTTCTTCCCCTTTCGTT	0.366													C	31398423	-	C	31398422	7	5	84	1	0	1	1	0	0	0	0	0	15329	1792	62	0	1353	0	STRN3	14	31398422	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	6493035	31398422	75951118	1009	56552	245	2									
STRN3	29966	broad.mit.edu	37	chr14	31398423	31398424	+	Frame_Shift_Ins	INS	-	-	C													tactcttcacccctttcttcINSccctttcgttccttcttgta							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:31398422_31398423T>TC	uc001wqu.2	-	7	1299_1300	c.1083_1084A>GA	c.(1081-1086)gggaagfs	p.G361fs	STRN3_uc001wqv.2_Intron|STRN3_uc010tpj.1_Intron	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA.	361					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	Golgi apparatus|cytoplasm|dendrite|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ACCCCTTTCTTCCCCTTTCGTT	0.366													C	31398424	-	C	31398423	7	5	84	1	0	1	1	0	0	0	0	0	15329	842	30	0	1354	0	STRN3	14	31398423	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	1	31398423	75951117	1010	56553	245	2									
SEC23A	10484	broad.mit.edu	37	chr14	39556131	39556131	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttcatcatatttattAcctgttggaaggaggtggct	9	7	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:39556131A>G	uc001wup.1	-	6	906	c.683_splice	c.e6+1	p.R228_splice	SEC23A_uc010tqa.1_Splice_Site_p.R90_splice|SEC23A_uc010tqb.1_Splice_Site_p.R199_splice|SEC23A_uc010tqc.1_Splice_Site_p.R90_splice	NM_006364	NP_006355	Q15436	SC23A_HUMAN	SEC23-related protein A						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CATATTTATTACCTGTTGGAA	0.383													G	39556131	A	G	39556131	5	3	84	1	0	0	0	0	0	0	1	0	13991	405	14	3	1672	3	SEC23A	14	39556131	Splice_Site	SNP	A	TCGA-BR-8372-01A-11D-2340-08	8157708	39556131	67793409	1011	56554											
LRFN5	145581	broad.mit.edu	37	chr14	42356881	42356881	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttatcacaactgtaaaggaTacaggtgcttttacctgcat	7	9	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:42356881T>A	uc001wvm.2	+	3	2251	c.1053T>A	c.(1051-1053)GAT>GAA	p.D351E	LRFN5_uc010ana.2_Missense_Mutation_p.D351E	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	351	Extracellular (Potential).|Ig-like.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGTAAAGGATACAGGTGCTT	0.388										HNSCC(30;0.082)			A	42356881	T	A	42356881	3	1	84	1	0	0	0	0	1	0	0	0	8941	1403	49	5	1055	5	LRFN5	14	42356881	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	2800750	42356881	64992659	1012	56555											
C14orf106	55320	broad.mit.edu	37	chr14	45697006	45697006	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgactcactgtgcttatTactcttcagttctatgaata	7	8	4	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:45697006T>C	uc001wwf.2	-	9	2065	c.1606A>G	c.(1606-1608)AAT>GAT	p.N536D	C14orf106_uc010anh.2_RNA	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	536					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						CTGTGCTTATTACTCTTCAGT	0.323													C	45697006	T	C	45697006	3	2	84	1	0	0	0	0	1	0	0	0	1738	1754	61	3	1828	3	C14orf106	14	45697006	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	3340125	45697006	61652534	1013	56556											
C14orf106	55320	broad.mit.edu	37	chr14	45700418	45700418	+	Frame_Shift_Del	DEL	T	T	-													tttggttttctcgtgcatcaTttttcattgatttccttatg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:45700418delT	uc001wwf.2	-	8	1979	c.1520delA	c.(1519-1521)AATfs	p.N507fs	C14orf106_uc010anh.2_RNA	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	507					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						TCGTGCATCATTTTTCATTGA	0.358													-	45700418	T	-	45700418	7	5	84	1	0	1	0	1	0	0	0	0	1738	1493	52	0	1918	0	C14orf106	14	45700418	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	3412	45700418	61649122	1014	56557											
SDCCAG1	9147	broad.mit.edu	37	chr14	50269385	50269385	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaccaagaagttgaagagtAccttaaaaaggaagctaaac	8	6	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:50269385A>G	uc001wxc.2	-	21	2042	c.1974_splice	c.e21+1	p.K658_splice	SDCCAG1_uc010anj.1_Splice_Site_p.K658_splice|SDCCAG1_uc001wxa.2_5'Flank|SDCCAG1_uc010tqi.1_Splice_Site_p.K637_splice|SDCCAG1_uc001wxe.2_Splice_Site_p.K616_splice|SDCCAG1_uc001wxd.1_Splice_Site_p.K63_splice	NM_004713	NP_004704	O60524	NEMF_HUMAN	serologically defined colon cancer antigen 1							cytoplasm|nucleus					0	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)		GTTGAAGAGTACCTTAAAAAG	0.323													G	50269385	A	G	50269385	5	3	84	1	0	0	0	0	0	0	1	0	13957	405	14	3	1306	3	SDCCAG1	14	50269385	Splice_Site	SNP	A	TCGA-BR-8372-01A-11D-2340-08	4568967	50269385	57080155	1015	56558											
SOS2	6655	broad.mit.edu	37	chr14	50606709	50606709	+	Frame_Shift_Del	DEL	T	T	-													gacttaagttttactaggtaTtttttaaagtgatcttgact							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:50606709delT	uc001wxs.3	-	17	2834	c.2736delA	c.(2734-2736)AAAfs	p.K912fs	SOS2_uc010tql.1_Frame_Shift_Del_p.K879fs|SOS2_uc010tqm.1_RNA	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	912	Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTACTAGGTATTTTTTAAAGT	0.259													-	50606709	T	-	50606709	7	5	84	1	0	1	0	1	0	0	0	0	14937	1490	52	0	1290	0	SOS2	14	50606709	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	337324	50606709	56742831	1016	56559											
PTGDR	5729	broad.mit.edu	37	chr14	52735271	52735271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagggactgtgccgagccgCgcgcggacgggagggaagcg	20	12	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:52735271C>T	uc001wzq.2	+	1	841	c.739C>T	c.(739-741)CGC>TGC	p.R247C		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	247	Cytoplasmic (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TGCCGAGCCGCGCGCGGACGG	0.682													T	52735271	C	T	52735271	3	4	84	1	0	0	0	0	1	0	0	0	12741	768	27	1	741	1	PTGDR	14	52735271	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2128562	52735271	54614269	1017	56560											
MUDENG	55745	broad.mit.edu	37	chr14	57741070	57741070	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctttgaacttagattAttggatgatgataaagactt	8	5	1	5			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:57741070A>G	uc001xcv.2	+	2	610	c.183A>G	c.(181-183)TTA>TTG	p.L61L	MUDENG_uc001xcu.3_Silent_p.L61L|MUDENG_uc010tri.1_Intron|MUDENG_uc010trj.1_5'UTR	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Mu-2 related death-inducing protein	61					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex				ovary(1)	1						AACTTAGATTATTGGATGATG	0.418													G	57741070	A	G	57741070	2	3	84	1	0	0	0	0	0	0	0	1	9983	446	16	3		3	MUDENG	14	57741070	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	5005799	57741070	49608470	1018	56561											
C14orf37	145407	broad.mit.edu	37	chr14	58598353	58598354	+	Frame_Shift_Ins	INS	-	-	C													gcaggggaaatgctgggttcINSccccaccattattccaggag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:58598352_58598353T>TC	uc010tro.2	-	4	2020_2021	c.1822_1823A>GA	c.(1822-1824)gaafs	p.E608fs	C14orf37_uc001xdc.3_Frame_Shift_Ins_p.E570fs|C14orf37_uc001xdd.3_Frame_Shift_Ins_p.E570fs|C14orf37_uc001xde.3_Frame_Shift_Ins_p.E570fs	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	570	Glu-rich.					integral to membrane	binding	p.E570K(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						AATGCTGGGTTCCCCCACCATT	0.495													C	58598354	-	C	58598353	7	5	84	1	0	1	1	0	0	0	0	0	1771	864	30	0	636	0	C14orf37	14	58598353	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	857283	58598353	48751187	1019	56562											
DAAM1	23002	broad.mit.edu	37	chr14	59798558	59798558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaaggaacagtatggaccGaaattgatgatacaaaagtc	11	5	0	2	rs139553997		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:59798558G>A	uc001xdz.1	+	15	2013	c.1888G>A	c.(1888-1890)GAA>AAA	p.E630K	DAAM1_uc001xea.1_Missense_Mutation_p.E630K	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	630	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AGTATGGACCGAAATTGATGA	0.353													A	59798558	G	A	59798558	3	1	84	1	0	0	0	0	1	0	0	0	4215	1059	37	1	1942	1	DAAM1	14	59798558	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1200205	59798558	47550982	1020	56563											
C14orf135	64430	broad.mit.edu	37	chr14	60581848	60581848	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attggaaccaaatctaaggaTttacccagtggtccggaaaa	9	8	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:60581848T>C	uc001xer.3	+	3	846	c.324T>C	c.(322-324)GAT>GAC	p.D108D	C14orf135_uc001xeq.2_Silent_p.D108D	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	342						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		AATCTAAGGATTTACCCAGTG	0.383													C	60581848	T	C	60581848	2	2	84	1	0	0	0	0	0	0	0	1	1745	1490	52	3		3	C14orf135	14	60581848	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	783290	60581848	46767692	1021	56564											
SLC38A6	145389	broad.mit.edu	37	chr14	61518547	61518547	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttctccaattttccaTtctcatggattcgccatttt	4	10	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:61518547T>C	uc001xfg.1	+	14	1209	c.1093T>C	c.(1093-1095)TTC>CTC	p.F365L	SLC38A6_uc001xfh.1_Missense_Mutation_p.F365L|SLC38A6_uc001xfi.2_RNA|SLC38A6_uc001xfj.1_RNA|SLC38A6_uc001xfk.2_RNA|SLC38A6_uc010trz.1_Missense_Mutation_p.F342L	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	365					amino acid transport|sodium ion transport	integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		CAATTTTCCATTCTCATGGAT	0.328													C	61518547	T	C	61518547	3	2	84	1	0	0	0	0	1	0	0	0	14608	1493	52	3	1147	3	SLC38A6	14	61518547	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	936699	61518547	45830993	1022	56565											
RHOJ	57381	broad.mit.edu	37	chr14	63757612	63757612	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taagatcggagcacagtgctActtggaatgttcagctctga	11	8	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:63757612A>G	uc001xgb.1	+	5	958	c.515A>G	c.(514-516)TAC>TGC	p.Y172C		NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN	ras homolog gene family, member J precursor	172					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		GCACAGTGCTACTTGGAATGT	0.428													G	63757612	A	G	63757612	3	3	84	1	0	0	0	0	1	0	0	0	13341	391	14	3	533	3	RHOJ	14	63757612	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2239065	63757612	43591928	1023	56566											
SYNE2	23224	broad.mit.edu	37	chr14	64491108	64491108	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggtcaggaattcgaatTagaaaaaatggagtccatat	11	5	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:64491108T>A	uc001xgm.2	+	39	6001	c.5771T>A	c.(5770-5772)TTA>TAA	p.L1924*	SYNE2_uc001xgl.2_Nonsense_Mutation_p.L1924*	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1924	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAATTCGAATTAGAAAAAATG	0.443													A	64491108	T	A	64491108	4	1	84	1	0	0	0	0	0	1	0	0	15443	1764	61	5	5921	5	SYNE2	14	64491108	Nonsense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	733496	64491108	42858432	1024	56567											
SPTB	6710	broad.mit.edu	37	chr14	65260496	65260496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctccagttgggccttccGcccagctgccatgttgctca	10	16	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:65260496G>A	uc001xht.2	-	13	1939	c.1885C>T	c.(1885-1887)CGG>TGG	p.R629W	SPTB_uc001xhr.2_Missense_Mutation_p.R629W|SPTB_uc001xhs.2_Missense_Mutation_p.R629W|SPTB_uc001xhu.2_Missense_Mutation_p.R629W	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	629	Spectrin 4.			RKA -> ART (in Ref. 1; AAA60578/ AAA60579).	actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGGGCCTTCCGCCCAGCTGCC	0.552													A	65260496	G	A	65260496	3	1	84	1	0	0	0	0	1	0	0	0	15117	1086	38	1	5262	1	SPTB	14	65260496	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	769388	65260496	42089044	1025	56568											
SPTB	6710	broad.mit.edu	37	chr14	65262178	65262178	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggtagctccataggcgCagtatattgtccttgcgggc	13	10	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:65262178C>T	uc001xht.2	-	11	1575	c.1521G>A	c.(1519-1521)CTG>CTA	p.L507L	SPTB_uc001xhr.2_Silent_p.L507L|SPTB_uc001xhs.2_Silent_p.L507L|SPTB_uc001xhu.2_Silent_p.L507L	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	507	Spectrin 3.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCCATAGGCGCAGTATATTGT	0.612													T	65262178	C	T	65262178	2	4	84	1	0	0	0	0	0	0	0	1	15117	697	25	2		2	SPTB	14	65262178	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1682	65262178	42087362	1026	56569											
SIPA1L1	26037	broad.mit.edu	37	chr14	72128176	72128176	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatccgtgctctgacagtgtCtgttataggtgtgtatgggt	13	6	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:72128176C>A	uc001xms.2	+	7	2595	c.2247C>A	c.(2245-2247)GTC>GTA	p.V749V	SIPA1L1_uc001xmt.2_Silent_p.V749V|SIPA1L1_uc001xmu.2_Silent_p.V749V|SIPA1L1_uc001xmv.2_Silent_p.V749V|SIPA1L1_uc010ttm.1_Silent_p.V224V	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	749	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTGACAGTGTCTGTTATAGGT	0.522													A	72128176	C	A	72128176	2	1	84	1	0	0	0	0	0	0	0	1	14329	900	32	5		5	SIPA1L1	14	72128176	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	6865998	72128176	35221364	1027	56570											
C14orf43	91748	broad.mit.edu	37	chr14	74206606	74206606	+	Frame_Shift_Del	DEL	G	G	-													cttcactctgatggactgctGggggggctgcaggggagggg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:74206605_74206605TG>T	uc010tud.1	-	0	354	c.107_107CA>A	c.(106-108)cagfs	p.Q36fs	C14orf43_uc001xot.3_Frame_Shift_Del_p.Q36fs|C14orf43_uc001xou.3_Frame_Shift_Del_p.Q36fs|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GATGGACTGCTGGGGGGGCTG	0.667													-	74206606	G	-	74206606	7	5	84	1	0	1	0	1	0	0	0	0	1774	1357	47	0	3075	0	C14orf43	14	74206606	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	2078430	74206606	33142934	1028	56571											
C14orf43	91748	broad.mit.edu	37	chr14	74206625	74206625	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggggggctgcaggggaggGggctgctccttgggagctgg	24	7	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:74206625G>T	uc001xot.2	-	2	870	c.87C>A	c.(85-87)CCC>CCA	p.P29P	C14orf43_uc001xou.2_Silent_p.P29P|C14orf43_uc010tud.1_Silent_p.P29P|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GCAGGGGAGGGGGCTGCTCCT	0.652													T	74206625	G	T	74206625	2	4	84	1	0	0	0	0	0	0	0	1	1774	1219	43	5		5	C14orf43	14	74206625	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	19	74206625	33142915	1029	56572											
RPS6KL1	83694	broad.mit.edu	37	chr14	75388063	75388063	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcactaacatcgcgctccAgggccagccggatctgcgtg	11	16	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:75388063A>G	uc010tux.1	-	2	710	c.182T>C	c.(181-183)CTG>CCG	p.L61P	RPS6KL1_uc001xqw.2_Missense_Mutation_p.L61P|RPS6KL1_uc010asd.1_RNA|RPS6KL1_uc001xqy.1_Missense_Mutation_p.L61P	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	61						ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00658)		ATCGCGCTCCAGGGCCAGCCG	0.602													G	75388063	A	G	75388063	3	3	84	1	0	0	0	0	1	0	0	0	13659	188	7	3	1483	3	RPS6KL1	14	75388063	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1181438	75388063	31961477	1030	56573											
TTLL5	23093	broad.mit.edu	37	chr14	76238159	76238159	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagacagtggcggtcagacgTtcagtgccagttgggctgcc	15	10	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:76238159T>C	uc001xrx.2	+	21	2303	c.2098T>C	c.(2098-2100)TTC>CTC	p.F700L	TTLL5_uc010ask.1_Missense_Mutation_p.F714L|TTLL5_uc001xrz.2_Missense_Mutation_p.F275L|TTLL5_uc001xry.1_RNA	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	700					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		CGGTCAGACGTTCAGTGCCAG	0.363													C	76238159	T	C	76238159	3	2	84	1	0	0	0	0	1	0	0	0	16727	1725	60	3	2176	3	TTLL5	14	76238159	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	850096	76238159	31111381	1031	56574											
KIAA1737	85457	broad.mit.edu	37	chr14	77572054	77572054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccagctgaataaaccatGgagaggaaaaacccatccag	8	12	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:77572054G>A	uc001xtd.2	+	2	182	c.3G>A	c.(1-3)ATG>ATA	p.M1I	KIAA1737_uc001xtc.1_5'UTR	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	KIAA1737 protein	1											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		AATAAACCATGGAGAGGAAAA	0.468													A	77572054	G	A	77572054	3	1	84	1	0	0	0	0	1	0	0	0	8255	1348	47	4	5	4	KIAA1737	14	77572054	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1333895	77572054	29777486	1032	56575											
C14orf174	161394	broad.mit.edu	37	chr14	77844056	77844056	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagagacgtaccaagcgaaActgaaccagggatacaccaa	10	10	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:77844056A>G	uc001xtq.1	+	1	295	c.295A>G	c.(295-297)ACT>GCT	p.T99A	TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	hypothetical protein LOC161394	99											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)		ACCAAGCGAAACTGAACCAGG	0.507													G	77844056	A	G	77844056	3	3	84	1	0	0	0	0	1	0	0	0	1759	43	2	3	297	3	C14orf174	14	77844056	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	272002	77844056	29505484	1033	56576											
C14orf174	161394	broad.mit.edu	37	chr14	77844361	77844361	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggaatcacttagagtgcaAcatgaagagacaggtctaga	12	6	2	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:77844361A>G	uc001xtq.1	+	1	600	c.600A>G	c.(598-600)CAA>CAG	p.Q200Q	TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	hypothetical protein LOC161394	200											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)		TTAGAGTGCAACATGAAGAGA	0.473													G	77844361	A	G	77844361	2	3	84	1	0	0	0	0	0	0	0	1	1759	40	2	3		3	C14orf174	14	77844361	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	305	77844361	29505179	1034	56577											
NRXN3	9369	broad.mit.edu	37	chr14	79434538	79434538	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctctatatggctggtctGgcccaaggcatgtacagcaa	11	10	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:79434538G>A	uc001xun.2	+	11	2363	c.1872G>A	c.(1870-1872)CTG>CTA	p.L624L	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.L749L	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	997	Extracellular (Potential).|Laminin G-like 5.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGCTGGTCTGGCCCAAGGCA	0.488													A	79434538	G	A	79434538	2	1	84	1	0	0	0	0	0	0	0	1	10667	1335	47	4		4	NRXN3	14	79434538	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1590177	79434538	27915002	1035	56578											
KCNK10	54207	broad.mit.edu	37	chr14	88652430	88652430	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctccacgctgagccttcGccgtgtctcccggaactcag	10	16	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:88652430G>A	uc001xwo.2	-	7	1523	c.1066C>T	c.(1066-1068)CGA>TGA	p.R356*	KCNK10_uc001xwm.2_Nonsense_Mutation_p.R361*|KCNK10_uc001xwn.2_Nonsense_Mutation_p.R361*	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	356	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						CTGAGCCTTCGCCGTGTCTCC	0.637													A	88652430	G	A	88652430	4	1	84	1	0	0	0	0	0	1	0	0	8059	1095	38	1	554	1	KCNK10	14	88652430	Nonsense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	9217892	88652430	18697110	1036	56579											
TTC8	123016	broad.mit.edu	37	chr14	89338724	89338725	+	In_Frame_Ins	INS	-	-	CAA													gcttcaggctggctctggtcINSaacaacaacaaccacgccga							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:89338723_89338724T>TCAA	uc010ath.3	+	12	1456_1457	c.1322_1323T>TCAA	c.(1321-1323)gtc>gTCAA	p.V441V	TTC8_uc001xxi.3_In_Frame_Ins_p.V425V|TTC8_uc001xxj.3_In_Frame_Ins_p.V415V|TTC8_uc001xxk.3_In_Frame_Ins_p.V385V|TTC8_uc001xxl.3_In_Frame_Ins_p.V186V|TTC8_uc010ati.3_In_Frame_Ins_p.V227V|TTC8_uc010atj.3_In_Frame_Ins_p.V160V	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.	451					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CTGGCTCTGGTCAACAACAACA	0.54													CAA	89338725	-	CAA	89338724	7	5	84	1	0	1	1	0	0	0	0	0	16711	813	29	0	1325	0	TTC8	14	89338724	In_Frame_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	686294	89338724	18010816	1037	56580											
TDP1	55775	broad.mit.edu	37	chr14	90450954	90450954	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagctgatctcatcagttacTtgatggcttataatgcccct	7	10	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:90450954T>C	uc001xxy.2	+	9	1278	c.979T>C	c.(979-981)TTG>CTG	p.L327L	TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Silent_p.L327L|TDP1_uc010atn.2_Silent_p.L327L|TDP1_uc001xya.2_Silent_p.L88L|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Silent_p.L327L|TDP1_uc001xyd.1_5'Flank	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	327					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CATCAGTTACTTGATGGCTTA	0.428								Repair_of_DNA-protein_crosslinks					C	90450954	T	C	90450954	2	2	84	1	0	0	0	0	0	0	0	1	15725	1606	56	3		3	TDP1	14	90450954	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1112230	90450954	16898586	1038	56581											
CATSPERB	79820	broad.mit.edu	37	chr14	92126195	92126195	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttacctgcctttgtcgagTaaacctttccacgttgagaa	7	11	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:92126195T>C	uc001xzs.1	-	15	1558	c.1418A>G	c.(1417-1419)TAC>TGC	p.Y473C	CATSPERB_uc010aub.1_Intron	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	473					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CTTTGTCGAGTAAACCTTTCC	0.328													C	92126195	T	C	92126195	3	2	84	1	0	0	0	0	1	0	0	0	2691	1638	57	3	1984	3	CATSPERB	14	92126195	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1675241	92126195	15223345	1039	56582											
BTBD7	55727	broad.mit.edu	37	chr14	93709220	93709221	+	Frame_Shift_Ins	INS	-	-	T													tggattttctctggtgtctgINSttttttgctctagtgtgtgt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:93709220_93709221insT	uc001ybo.2	-	11	3123_3124	c.2797_2798insA	c.(2797-2799)ACAfs	p.T933fs	BTBD7_uc010aur.2_Frame_Shift_Ins_p.T458fs|BTBD7_uc010two.1_Frame_Shift_Ins_p.T753fs|BTBD7_uc001ybp.2_Frame_Shift_Ins_p.T582fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	933										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TCTGGTGTCTGTTTTTTGCTCT	0.485													T	93709221	-	T	93709220	7	5	84	1	0	1	1	0	0	0	0	0	1546	1377	48	0	604	0	BTBD7	14	93709220	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	1583025	93709220	13640320	1040	56583	246	2									
BTBD7	55727	broad.mit.edu	37	chr14	93709221	93709222	+	Frame_Shift_Ins	INS	-	-	T													ggattttctctggtgtctgtINStttttgctctagtgtgtgtt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:93709220_93709221G>GT	uc001ybo.3	-	10	3123_3124	c.2797_2798C>AC	c.(2797-2799)acafs	p.T933fs	BTBD7_uc010aur.3_Frame_Shift_Ins_p.T458fs|BTBD7_uc010two.2_Frame_Shift_Ins_p.T753fs|BTBD7_uc001ybp.3_Frame_Shift_Ins_p.T582fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	933										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TCTGGTGTCTGTTTTTTGCTCT	0.485													T	93709222	-	T	93709221	7	5	84	1	0	1	1	0	0	0	0	0	1546	1725	60	0	605	0	BTBD7	14	93709221	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	1	93709221	13640319	1041	56584	246	2									
BTBD7	55727	broad.mit.edu	37	chr14	93720048	93720049	+	Frame_Shift_Ins	INS	-	-	T													acgaacatagatgccagcatINSttttttgccgtaaccaggca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:93720047_93720048A>AT	uc001ybo.3	-	6	2023_2024	c.1697_1698T>AT	c.(1696-1698)aatfs	p.N566fs	BTBD7_uc010aur.3_Frame_Shift_Ins_p.N91fs|BTBD7_uc010two.2_Frame_Shift_Ins_p.N386fs|BTBD7_uc001ybp.3_Frame_Shift_Ins_p.N215fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	566										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AGATGCCAGCATTTTTTTGCCG	0.386													T	93720049	-	T	93720048	7	5	84	1	0	1	1	0	0	0	0	0	1546	1493	52	0	1721	0	BTBD7	14	93720048	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	10827	93720048	13629492	1042	56585											
KIAA1409	57578	broad.mit.edu	37	chr14	94063774	94063774	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaccacctgctgaagtActccctggcacatgccttct	6	15	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:94063774A>G	uc001ybv.1	+	21	2812	c.2729A>G	c.(2728-2730)TAC>TGC	p.Y910C	KIAA1409_uc001ybs.1_Missense_Mutation_p.Y910C	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1087						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		CTGCTGAAGTACTCCCTGGCA	0.468													G	94063774	A	G	94063774	3	3	84	1	0	0	0	0	1	0	0	0	8230	391	14	3	2811	3	KIAA1409	14	94063774	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	343726	94063774	13285766	1043	56586											
ATG2B	55102	broad.mit.edu	37	chr14	96794867	96794867	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgaactaagtcttgcttgAttacccttttaaaaaaaaaa	4	7	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:96794867A>G	uc001yfi.2	-	14	2345	c.1980T>C	c.(1978-1980)AAT>AAC	p.N660N		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	660										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GTCTTGCTTGATTACCCTTTT	0.289													G	96794867	A	G	96794867	2	3	84	1	0	0	0	0	0	0	0	1	1094	330	12	3		3	ATG2B	14	96794867	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2731093	96794867	10554673	1044	56587											
DEGS2	123099	broad.mit.edu	37	chr14	100615982	100615982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatctgcaccagcaccaGcaccagcaccgcccacttga	7	19	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:100615982G>A	uc001ygx.2	-	2	236	c.148C>T	c.(148-150)CTG>TTG	p.L50L		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	degenerative spermatocyte homolog 2, lipid	50	Helical; (Potential).				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity				0		Melanoma(154;0.212)				ACCAGCACCAGCACCAGCACC	0.677													A	100615982	G	A	100615982	2	1	84	1	0	0	0	0	0	0	0	1	4423	962	34	2		2	DEGS2	14	100615982	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	3821115	100615982	6733558	1045	56588											
SLC25A29	123096	broad.mit.edu	37	chr14	100759713	100759713	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctctggacctgaagccgtAcctggaaggagagggtccag	15	11	1	2	rs149547960		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:100759713A>G	uc001yha.2	-	3	371	c.80T>C	c.(79-81)GTA>GCA	p.V27A	SLC25A29_uc010avv.2_5'UTR|SLC25A29_uc010twx.1_Missense_Mutation_p.Y5H	NM_001039355	NP_001034444	Q8N8R3	MCATL_HUMAN	solute carrier family 25, member 29	27	Solcar 1.					integral to membrane|mitochondrial inner membrane	binding			ovary(1)	1		Melanoma(154;0.152)			L-Carnitine(DB00583)	CTGAAGCCGTACCTGGAAGGA	0.627													G	100759713	A	G	100759713	3	3	84	1	0	0	0	0	1	0	0	0	14492	405	14	3	839	3	SLC25A29	14	100759713	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	143731	100759713	6589827	1046	56589											
DLK1	8788	broad.mit.edu	37	chr14	101193431	101193431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgaccgaagccctcctgcGcgtcctcttgctcctgctgg	11	18	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:101193431G>A	uc001yhs.3	+	1	179	c.26G>A	c.(25-27)CGC>CAC	p.R9H	DLK1_uc001yhu.3_Missense_Mutation_p.R9H	NM_003836	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog precursor	9					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				ovary(2)|breast(1)|skin(1)	4		Melanoma(154;0.155)				GCCCTCCTGCGCGTCCTCTTG	0.711													A	101193431	G	A	101193431	3	1	84	1	0	0	0	0	1	0	0	0	4564	1087	38	1	28	1	DLK1	14	101193431	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	433718	101193431	6156109	1047	56590											
RTL1	388015	broad.mit.edu	37	chr14	101350949	101350949	+	Frame_Shift_Del	DEL	G	G	-													atttcctggagtgggccactGgggggctccttcttttcctg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:101350948_101350948TG>T	uc010txj.1	-	0	237	c.178_178CA>A	c.(178-180)agtfs	p.S60fs	MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	60										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						AGTGGGCCACTGGGGGGCTCC	0.627													-	101350949	G	-	101350949	7	5	84	1	0	1	0	1	0	0	0	0	13724	1335	47	0	3903	0	RTL1	14	101350949	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	157518	101350949	5998591	1048	56591											
DIO3	1735	broad.mit.edu	37	chr14	102027850	102027850	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagatgcctcgccaggccaCgtcgcggttggtggtcggag	16	13	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:102027850C>T	uc010txq.1	+	1	163	c.-61C>T	c.(-63--59)CACGT>CATGT		DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III						cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(303;0.185)				CGCCAGGCCACGTCGCGGTTG	0.677													T	102027850	C	T	102027850	1	4	84	1	0	0	0	0	0	0	0	0	4526	536	19	1		1	DIO3	14	102027850	Translation_Start_Site	SNP	C	TCGA-BR-8372-01A-11D-2340-08	676901	102027850	5321690	1049	56592											
DIO3	1735	broad.mit.edu	37	chr14	102027918	102027918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgcagccaccatgctcCgctccctgctgcttcactcc	8	20	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:102027918C>T	uc010txq.1	+	1	231	c.7C>T	c.(7-9)CGC>TGC	p.R3C	DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	3	Cytoplasmic (Potential).			R -> H (in Ref. 1; AAB35616).	cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(303;0.185)				CACCATGCTCCGCTCCCTGCT	0.687													T	102027918	C	T	102027918	3	4	84	1	0	0	0	0	1	0	0	0	4526	652	23	1	87	1	DIO3	14	102027918	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	68	102027918	5321622	1050	56593											
DYNC1H1	1778	broad.mit.edu	37	chr14	102515817	102515817	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccactacacggtgcctgcCggcatgaccgtcatccagtg	10	16	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:102515817C>T	uc001yks.2	+	75	13577	c.13413C>T	c.(13411-13413)GCC>GCT	p.A4471A		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	4471					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CGGTGCCTGCCGGCATGACCG	0.602													T	102515817	C	T	102515817	2	4	84	1	0	0	0	0	0	0	0	1	4841	639	23	1		1	DYNC1H1	14	102515817	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	487899	102515817	4833723	1051	56594											
KLC1	3831	broad.mit.edu	37	chr14	104139404	104139404	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttaaataacttggccttActgtgccagaaccagggcaa	9	10	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:104139404A>G	uc001yno.2	+	8	1349	c.1041A>G	c.(1039-1041)TTA>TTG	p.L347L	KLC1_uc010tyd.1_Silent_p.L506L|KLC1_uc010tye.1_Silent_p.L343L|KLC1_uc001ynm.1_Silent_p.L347L|KLC1_uc001ynn.1_Silent_p.L341L|KLC1_uc010tyf.1_Silent_p.L347L|KLC1_uc001ynp.1_5'Flank|KLC1_uc001ynr.1_5'Flank|KLC1_uc010awu.1_5'Flank|KLC1_uc001ynq.1_5'Flank|KLC1_uc001yns.2_5'Flank	NM_182923	NP_891553	Q07866	KLC1_HUMAN	kinesin light chain 1 isoform 2	347	TPR 4.				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0		Melanoma(154;0.155)|all_epithelial(191;0.19)				ACTTGGCCTTACTGTGCCAGA	0.438													G	104139404	A	G	104139404	2	3	84	1	0	0	0	0	0	0	0	1	8333	388	14	3		3	KLC1	14	104139404	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1623587	104139404	3210136	1052	56595											
AHNAK2	113146	broad.mit.edu	37	chr14	105407107	105407107	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttctccagggctaagaggaGacatgactggggcacccact	12	11	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:105407107G>T	uc010axc.1	-	7	14801	c.14681C>A	c.(14680-14682)TCT>TAT	p.S4894Y	AHNAK2_uc001ypx.2_Missense_Mutation_p.S4794Y	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4894						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)			GCTAAGAGGAGACATGACTGG	0.542													T	105407107	G	T	105407107	3	4	84	1	0	0	0	0	1	0	0	0	415	942	33	5	2710	5	AHNAK2	14	105407107	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1267703	105407107	1942433	1053	56596											
AHNAK2	113146	broad.mit.edu	37	chr14	105410777	105410777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catggaggggagactcacatCggcttccaccttgggtgcag	14	11	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:105410777C>T	uc010axc.1	-	7	11131	c.11011G>A	c.(11011-11013)GAT>AAT	p.D3671N	AHNAK2_uc001ypx.2_Missense_Mutation_p.D3571N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3671						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)			AGACTCACATCGGCTTCCACC	0.582													T	105410777	C	T	105410777	3	4	84	1	0	0	0	0	1	0	0	0	415	884	31	1	6380	1	AHNAK2	14	105410777	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	3670	105410777	1938763	1054	56597											
AHNAK2	113146	broad.mit.edu	37	chr14	105415855	105415855	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttggcagtcatgtccttgTcggccagggacaggtctccc	12	13	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:105415855T>C	uc010axc.1	-	7	6053	c.5933A>G	c.(5932-5934)GAC>GGC	p.D1978G	AHNAK2_uc001ypx.2_Missense_Mutation_p.D1878G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1978						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)			CATGTCCTTGTCGGCCAGGGA	0.607													C	105415855	T	C	105415855	3	2	84	1	0	0	0	0	1	0	0	0	415	1667	58	3	11458	3	AHNAK2	14	105415855	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	5078	105415855	1933685	1055	56598											
MAGEL2	54551	broad.mit.edu	37	chr15	23891069	23891069	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtgtctgctgcacctcCtggaattccattgacgttgg	11	12	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:23891069C>A	uc001ywj.3	-	1	107	c.12G>T	c.(10-12)CAG>CAT	p.Q4H		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GCTGCACCTCCTGGAATTCCA	0.622													A	23891069	C	A	23891069	3	1	84	1	0	0	0	0	1	0	0	0	9189	680	24	5	1932	5	MAGEL2	15	23891069	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08		23891069	78640323	1056	56599											
C15orf2	23742	broad.mit.edu	37	chr15	24923624	24923624	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagcattgcctcagcccaAgtctccaccagttttcctgc	7	16	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:24923624A>G	uc001ywo.2	+	1	3084	c.2610A>G	c.(2608-2610)CAA>CAG	p.Q870Q		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	870					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTCAGCCCAAGTCTCCACCA	0.498													G	24923624	A	G	24923624	2	3	84	1	0	0	0	0	0	0	0	1	1784	69	3	3		3	C15orf2	15	24923624	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1032555	24923624	77607768	1057	56600											
GABRB3	2562	broad.mit.edu	37	chr15	26806130	26806130	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgccttggctgtcttttcTgcaagcttcttctgcctttg	8	11	4	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:26806130T>C	uc001zaz.2	-	8	1171	c.1029A>G	c.(1027-1029)GCA>GCG	p.A343A	GABRB3_uc010uae.1_Silent_p.A258A|GABRB3_uc001zba.2_Silent_p.A343A|GABRB3_uc001zbb.2_Silent_p.A399A	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	343	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTGTCTTTTCTGCAAGCTTCT	0.522													C	26806130	T	C	26806130	2	2	84	1	0	0	0	0	0	0	0	1	6168	1567	55	3		3	GABRB3	15	26806130	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1882506	26806130	75725262	1058	56601											
HERC2	8924	broad.mit.edu	37	chr15	28408274	28408274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccatgccggaaagcaccGcggagagcacatccctgccc	10	18	0	1	rs151205330	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:28408274G>A	uc001zbj.2	-	69	10818	c.10712C>T	c.(10711-10713)GCG>GTG	p.A3571V		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3571					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGAAAGCACCGCGGAGAGCAC	0.647													A	28408274	G	A	28408274	3	1	84	1	0	0	0	0	1	0	0	0	7058	1087	38	1	3892	1	HERC2	15	28408274	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1602144	28408274	74123118	1059	56602											
HERC2	8924	broad.mit.edu	37	chr15	28460840	28460840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcagcgtgatccactgcGgggagctgagggcgccgcat	17	11	0	3	rs141981089		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:28460840G>A	uc001zbj.2	-	39	6243	c.6137C>T	c.(6136-6138)CCG>CTG	p.P2046L		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2046					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GATCCACTGCGGGGAGCTGAG	0.627													A	28460840	G	A	28460840	3	1	84	1	0	0	0	0	1	0	0	0	7058	1116	39	1	8587	1	HERC2	15	28460840	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	52566	28460840	74070552	1060	56603											
APBA2	321	broad.mit.edu	37	chr15	29368282	29368282	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtggcatcatttccaAgttttgtggctggtaagtga	13	5	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:29368282A>G	uc001zck.2	+	5	1264	c.1057A>G	c.(1057-1059)AGT>GGT	p.S353G	APBA2_uc010azj.2_Missense_Mutation_p.S353G|APBA2_uc010uat.1_Missense_Mutation_p.S353G|APBA2_uc001zcl.2_Missense_Mutation_p.S353G|APBA2_uc001zcm.1_Missense_Mutation_p.S57G	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	353					nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		ATCATTTCCAAGTTTTGTGGC	0.378													G	29368282	A	G	29368282	3	3	84	1	0	0	0	0	1	0	0	0	757	72	3	3	1067	3	APBA2	15	29368282	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	907442	29368282	73163110	1061	56604											
APBA2	321	broad.mit.edu	37	chr15	29385292	29385292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcagttccagggccctgcGaaccagaagacctcatcgac	9	15	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:29385292G>A	uc001zck.2	+	6	1291	c.1084G>A	c.(1084-1086)GAA>AAA	p.E362K	APBA2_uc010azj.2_Missense_Mutation_p.E362K|APBA2_uc010uat.1_Missense_Mutation_p.E362K|APBA2_uc001zcl.2_Missense_Mutation_p.E362K|APBA2_uc001zcm.1_Missense_Mutation_p.E66K	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	362					nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGGGCCCTGCGAACCAGAAGA	0.522													A	29385292	G	A	29385292	3	1	84	1	0	0	0	0	1	0	0	0	757	1059	37	1	1098	1	APBA2	15	29385292	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	17010	29385292	73146100	1062	56605											
ARHGAP11B	89839	broad.mit.edu	37	chr15	30919028	30919028	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcgacgtatccggaatgtGggatcagaggctggtgaagt	15	6	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:30919028G>A	uc001zet.1	+	1	150	c.5G>A	c.(4-6)TGG>TAG	p.W2*	ARHGAP11B_uc010azv.1_Intron|ARHGAP11B_uc001zeu.2_RNA	NM_001039841	NP_001034930	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	2					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TCCGGAATGTGGGATCAGAGG	0.537													A	30919028	G	A	30919028	4	1	84	1	0	0	0	0	0	1	0	0	864	1357	47	4	7	4	ARHGAP11B	15	30919028	Nonsense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1533736	30919028	71612364	1063	56606											
ZNF770	54989	broad.mit.edu	37	chr15	35274313	35274313	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgatgaaccacagatTgacaagtctttcttattcac	5	11	4	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:35274313T>C	uc001ziw.2	-	3	1634	c.1323A>G	c.(1321-1323)TCA>TCG	p.S441S		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AACCACAGATTGACAAGTCTT	0.343													C	35274313	T	C	35274313	2	2	84	1	0	0	0	0	0	0	0	1	18140	1799	63	3		3	ZNF770	15	35274313	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	4355285	35274313	67257079	1064	56607											
CHAC1	79094	broad.mit.edu	37	chr15	41245679	41245679	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggggcgctcagctggagctAccgagcggtgccaggccagg	19	12	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:41245679A>T	uc001znh.2	+	1	44	c.24A>T	c.(22-24)CTA>CTT	p.L8L	CHAC1_uc010uct.1_Silent_p.L8L	NM_024111	NP_077016	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator-like 1 isoform	8					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding				0		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		AGCTGGAGCTACCGAGCGGTG	0.706													T	41245679	A	T	41245679	2	4	84	1	0	0	0	0	0	0	0	1	3308	378	14	5		5	CHAC1	15	41245679	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	5971366	41245679	61285713	1065	56608											
RTF1	23168	broad.mit.edu	37	chr15	41762573	41762573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcatcacgaacatcatcGtctgatgaagaagaggagta	10	9	4	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:41762573G>A	uc001zny.2	+	7	1020	c.1008G>A	c.(1006-1008)TCG>TCA	p.S336S		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Paf1/RNA polymerase II complex component	336	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GAACATCATCGTCTGATGAAG	0.438													A	41762573	G	A	41762573	2	1	84	1	0	0	0	0	0	0	0	1	13721	1132	40	1		1	RTF1	15	41762573	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	516894	41762573	60768819	1066	56609											
LCMT2	9836	broad.mit.edu	37	chr15	43621352	43621352	+	Frame_Shift_Del	DEL	C	C	-													aaaaaaatgaagctggagaaCccccaaggctggacttactg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:43621351_43621351AC>A	uc001zrg.3	-	0	1470	c.1337_1337GT>T	c.(1336-1338)gttfs	p.V446fs	ADAL_uc001zrh.3_5'Flank|ADAL_uc010udo.2_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	Homo sapiens leucine carboxyl methyltransferase 2 (LCMT2), mRNA.	446					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	AAGCTGGAGAACCCCCAAGGC	0.483													-	43621352	C	-	43621352	7	5	84	1	0	1	0	1	0	0	0	0	8679	507	18	0	728	0	LCMT2	15	43621352	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	1858779	43621352	58910040	1067	56610											
TUBGCP4	27229	broad.mit.edu	37	chr15	43672327	43672327	+	Frame_Shift_Del	DEL	G	G	-													cagtctacaaacacagctgtGgggggttgcctcctgttcga							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:43672327delG	uc001zro.2	+	6	727	c.487delG	c.(487-489)GGGfs	p.G163fs	TUBGCP4_uc001zrn.2_Frame_Shift_Del_p.G163fs|TUBGCP4_uc010bdh.2_RNA	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	163					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			ovary(3)	3		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		ACACAGCTGTGGGGGGTTGCC	0.453													-	43672327	G	-	43672327	7	5	84	1	0	1	0	1	0	0	0	0	16765	1348	47	0	509	0	TUBGCP4	15	43672327	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	50975	43672327	58859065	1068	56611											
TUBGCP4	27229	broad.mit.edu	37	chr15	43678008	43678008	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctgattgaggaagagaAcatgctggcaccatctctga	12	10	1	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:43678008A>G	uc001zro.2	+	8	983	c.743A>G	c.(742-744)AAC>AGC	p.N248S	TUBGCP4_uc001zrn.2_Missense_Mutation_p.N248S|TUBGCP4_uc010bdh.2_RNA	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	248					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			ovary(3)	3		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GAGGAAGAGAACATGCTGGCA	0.433													G	43678008	A	G	43678008	3	3	84	1	0	0	0	0	1	0	0	0	16765	43	2	3	773	3	TUBGCP4	15	43678008	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	5681	43678008	58853384	1069	56612											
MAP1A	4130	broad.mit.edu	37	chr15	43821953	43821953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaccttgacttcttccgtcGagtgcgtgcatcctactatg	9	12	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:43821953G>A	uc001zrt.2	+	5	8608	c.8141G>A	c.(8140-8142)CGA>CAA	p.R2714Q		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2714						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TTCTTCCGTCGAGTGCGTGCA	0.582													A	43821953	G	A	43821953	3	1	84	1	0	0	0	0	1	0	0	0	9227	1058	37	1	8147	1	MAP1A	15	43821953	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	143945	43821953	58709439	1070	56613											
PDIA3	2923	broad.mit.edu	37	chr15	44048950	44048950	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agaagcaggtgcttatgatgGacctaggactgctggtaagg	15	6	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:44048950G>T	uc001zsu.2	+	3	498	c.350G>T	c.(349-351)GGA>GTA	p.G117V	PDIA3_uc010bdp.2_Missense_Mutation_p.G97V|PDIA3_uc010ued.1_5'UTR	NM_005313	NP_005304	P30101	PDIA3_HUMAN	protein disulfide-isomerase A3 precursor	117	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)|skin(1)	2		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GCTTATGATGGACCTAGGACT	0.383													T	44048950	G	T	44048950	3	4	84	1	0	0	0	0	1	0	0	0	11669	1174	41	5	360	5	PDIA3	15	44048950	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	226997	44048950	58482442	1071	56614											
ELL3	80237	broad.mit.edu	37	chr15	44066518	44066518	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtcctgctcataggcatgTtgctgttctgcactgtggat	11	9	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:44066518T>C	uc001zsw.1	-	9	1303	c.900A>G	c.(898-900)CAA>CAG	p.Q300Q	ELL3_uc001zsv.1_Silent_p.Q254Q|ELL3_uc001zsx.1_Silent_p.Q185Q|uc001zsy.2_5'Flank	NM_025165	NP_079441	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	300					positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				ovary(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CATAGGCATGTTGCTGTTCTG	0.527													C	44066518	T	C	44066518	2	2	84	1	0	0	0	0	0	0	0	1	5064	1722	60	3		3	ELL3	15	44066518	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	17568	44066518	58464874	1072	56615											
MYEF2	50804	broad.mit.edu	37	chr15	48441449	48441449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaaaatcctcgatccatatCgatgctcctttccagtatag	5	11	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:48441449C>T	uc001zwi.3	-	15	1622	c.1498G>A	c.(1498-1500)GAT>AAT	p.D500N	MYEF2_uc001zwg.3_Missense_Mutation_p.D38N|MYEF2_uc001zwh.3_Missense_Mutation_p.D88N|MYEF2_uc001zwj.3_Missense_Mutation_p.D476N	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	500	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CGATCCATATCGATGCTCCTT	0.463													T	48441449	C	T	48441449	3	4	84	1	0	0	0	0	1	0	0	0	10024	884	31	1	316	1	MYEF2	15	48441449	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	4374931	48441449	54089943	1073	56616											
SLC12A1	6557	broad.mit.edu	37	chr15	48533725	48533725	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaaaggatccccaagatgCcatccccagaggaaccatgc	8	13	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:48533725C>A	uc001zwn.3	+	10	1445	c.1229C>A	c.(1228-1230)GCC>GAC	p.A410D	SLC12A1_uc010uew.1_Missense_Mutation_p.A216D|SLC12A1_uc010bem.2_Missense_Mutation_p.A410D|SLC12A1_uc001zwq.3_Missense_Mutation_p.A181D|SLC12A1_uc001zwr.3_Missense_Mutation_p.A137D	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	410	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCCCAAGATGCCATCCCCAGA	0.408													A	48533725	C	A	48533725	3	1	84	1	0	0	0	0	1	0	0	0	14382	739	26	5	1363	5	SLC12A1	15	48533725	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	92276	48533725	53997667	1074	56617											
TRPM7	54822	broad.mit.edu	37	chr15	50884706	50884706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtttttaatgtatctacCgtcagggctgaaagatcttg	10	6	3	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:50884706C>T	uc001zyt.3	-	26	3990	c.3726G>A	c.(3724-3726)ACG>ACA	p.T1242T	TRPM7_uc010bew.1_Silent_p.T1242T	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1242	Cytoplasmic (Potential).|By similarity.				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ATGTATCTACCGTCAGGGCTG	0.388													T	50884706	C	T	50884706	2	4	84	1	0	0	0	0	0	0	0	1	16588	639	23	1		1	TRPM7	15	50884706	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2350981	50884706	51646686	1075	56618											
AP4E1	23431	broad.mit.edu	37	chr15	51242094	51242094	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtaggaggagatgtaatgcAtcctgatattcccaataact	9	7	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:51242094A>G	uc001zyx.1	+	12	1418	c.1388A>G	c.(1387-1389)CAT>CGT	p.H463R		NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	463					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GATGTAATGCATCCTGATATT	0.338													G	51242094	A	G	51242094	3	3	84	1	0	0	0	0	1	0	0	0	752	217	8	3	1434	3	AP4E1	15	51242094	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	357388	51242094	51289298	1076	56619											
MYO5A	4644	broad.mit.edu	37	chr15	52643603	52643603	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtcacctctggggcacTtttctcactgagggccttgc	13	13	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:52643603T>C	uc002aby.2	-	28	3941	c.3697A>G	c.(3697-3699)AGT>GGT	p.S1233G	MYO5A_uc002abx.3_Missense_Mutation_p.S1233G|MYO5A_uc010ugd.1_5'UTR|MYO5A_uc002aca.1_5'UTR|MYO5A_uc002acb.1_5'UTR|MYO5A_uc002acc.1_5'UTR	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	1233	Potential.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCTGGGGCACTTTTCTCACTG	0.498													C	52643603	T	C	52643603	3	2	84	1	0	0	0	0	1	0	0	0	10078	1609	56	3	1926	3	MYO5A	15	52643603	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1401509	52643603	49887789	1077	56620											
MYO5A	4644	broad.mit.edu	37	chr15	52688528	52688528	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaccatattgaattgttgCtgtagtttttcatttgcata	6	6	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:52688528C>T	uc002aby.2	-	11	1630	c.1386G>A	c.(1384-1386)CAG>CAA	p.Q462Q	MYO5A_uc002abx.3_Silent_p.Q462Q|MYO5A_uc010uge.1_Silent_p.Q331Q	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	462	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGAATTGTTGCTGTAGTTTTT	0.284													T	52688528	C	T	52688528	2	4	84	1	0	0	0	0	0	0	0	1	10078	796	28	2		2	MYO5A	15	52688528	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	44925	52688528	49842864	1078	56621											
UNC13C	440279	broad.mit.edu	37	chr15	54307979	54307979	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacattcctgaacagccagTggagatcacaaagccaaaga	8	10	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:54307979T>C	uc002ack.2	+	1	2879	c.2879T>C	c.(2878-2880)GTG>GCG	p.V960A		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	960					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAACAGCCAGTGGAGATCACA	0.403													C	54307979	T	C	54307979	3	2	84	1	0	0	0	0	1	0	0	0	16983	1696	59	3	2881	3	UNC13C	15	54307979	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1619451	54307979	48223413	1079	56622											
HERC1	8925	broad.mit.edu	37	chr15	63970298	63970300	+	In_Frame_Del	DEL	CTC	CTC	-													tcttcctctttgctctccttCtcctctctcatttcattttc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:63970297_63970299TCTC>T	uc002amp.3	-	36	6963_6965	c.6815_6817GAGA>A	c.(6814-6819)gagaag>gAag	p.K2273del		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2273					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTGCTCTCCTTCTCCTCTCTCAT	0.468													-	63970300	CTC	-	63970298	7	5	84	1	0	1	0	1	0	0	0	0	7057	912	32	0	7937	0	HERC1	15	63970298	In_Frame_Del	DEL	CTC	TCGA-BR-8372-01A-11D-2340-08	9662319	63970298	38561094	1080	56623											
HERC1	8925	broad.mit.edu	37	chr15	64056318	64056318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaagagacataatgctgCctcgtaaagggagcacaagc	10	9	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:64056318C>T	uc002amp.2	-	3	1151	c.1003G>A	c.(1003-1005)GCA>ACA	p.A335T	HERC1_uc010uil.1_Intron|HERC1_uc010bgt.1_Missense_Mutation_p.A335T	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	335					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						CATAATGCTGCCTCGTAAAGG	0.403													T	64056318	C	T	64056318	3	4	84	1	0	0	0	0	1	0	0	0	7057	739	26	2	13886	2	HERC1	15	64056318	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	86020	64056318	38475074	1081	56624											
DENND4A	10260	broad.mit.edu	37	chr15	65968867	65968867	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcactggtctcttgagaggAgataggtccttccaactcat	10	10	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:65968867A>C	uc002aph.2	-	23	4531	c.4153T>G	c.(4153-4155)TCC>GCC	p.S1385A	DENND4A_uc002api.2_Missense_Mutation_p.S1428A	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TCTTGAGAGGAGATAGGTCCT	0.453													C	65968867	A	C	65968867	3	2	84	1	0	0	0	0	1	0	0	0	4433	304	11	5	1478	5	DENND4A	15	65968867	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1912549	65968867	36562525	1082	56625											
THSD4	79875	broad.mit.edu	37	chr15	72040765	72040765	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctgtgtttcagtgctcGgtgccctgcggcgtgggaca	16	10	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:72040765G>T	uc002atb.1	+	13	2326	c.2247G>T	c.(2245-2247)TCG>TCT	p.S749S	THSD4_uc002ate.2_Silent_p.S389S	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	749	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						TTCAGTGCTCGGTGCCCTGCG	0.577													T	72040765	G	T	72040765	2	4	84	1	0	0	0	0	0	0	0	1	15875	1103	39	5		5	THSD4	15	72040765	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	6071898	72040765	30490627	1083	56626											
CLK3	1198	broad.mit.edu	37	chr15	74914516	74914516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggaagatgacaaggaggGtcacctggtgtgccggatcg	17	7	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:74914516G>A	uc010uln.1	+	4	1330	c.869G>A	c.(868-870)GGT>GAT	p.G290D	CLK3_uc002ayg.3_Missense_Mutation_p.G142D|CLK3_uc002ayh.3_Intron|CLK3_uc010ulm.1_3'UTR|CLK3_uc002ayj.3_Missense_Mutation_p.G142D|CLK3_uc002ayk.3_Missense_Mutation_p.G69D|CLK3_uc002ayl.3_5'Flank	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	290						acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						GACAAGGAGGGTCACCTGGTG	0.562													A	74914516	G	A	74914516	3	1	84	1	0	0	0	0	1	0	0	0	3538	1261	44	4	883	4	CLK3	15	74914516	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	2873751	74914516	27616876	1084	56627											
CYP1A2	1544	broad.mit.edu	37	chr15	75047347	75047347	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgggcgtgaaagtcgAcctgacccccatctacgggc	13	16	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:75047347A>G	uc002ayr.1	+	7	1533	c.1469A>G	c.(1468-1470)GAC>GGC	p.D490G		NM_000761	NP_000752	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A,	490					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			ovary(3)|breast(1)	4					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GTGAAAGTCGACCTGACCCCC	0.597													G	75047347	A	G	75047347	3	3	84	1	0	0	0	0	1	0	0	0	4150	275	10	3	1491	3	CYP1A2	15	75047347	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	132831	75047347	27484045	1085	56628											
COMMD4	54939	broad.mit.edu	37	chr15	75632127	75632127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtggaagagcccatggtgcAcctgcggctggaggtggcag	18	10	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:75632127A>G	uc002azy.2	+	7	524	c.467A>G	c.(466-468)CAC>CGC	p.H156R	COMMD4_uc010umf.1_3'UTR|COMMD4_uc002azz.2_Intron|COMMD4_uc002baa.2_Intron|COMMD4_uc010umg.1_3'UTR|COMMD4_uc010umh.1_RNA	NM_017828	NP_060298	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	156	COMM.					cytoplasm	protein binding				0						CCCATGGTGCACCTGCGGCTG	0.642													G	75632127	A	G	75632127	3	3	84	1	0	0	0	0	1	0	0	0	3718	159	6	3	493	3	COMMD4	15	75632127	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	584780	75632127	26899265	1086	56629											
MAN2C1	4123	broad.mit.edu	37	chr15	75651720	75651720	+	Frame_Shift_Del	DEL	G	G	-													agcaggggctgcagtgaggtGgggggaggaacaggagcata							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:75651719_75651719TG>T	uc002bah.3	-	16	2026	c.2009_2009CA>A	c.(2008-2010)cacfs	p.H670fs	MAN2C1_uc010bkk.3_Frame_Shift_Del_p.T567fs|MAN2C1_uc002baf.3_Frame_Shift_Del_p.T666fs|MAN2C1_uc002bag.3_Frame_Shift_Del_p.T666fs			Q9NTJ4	MA2C1_HUMAN	Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA.	656					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TGCAGTGAGGTGGGGGGAGGA	0.617													-	75651720	G	-	75651720	7	5	84	1	0	1	0	1	0	0	0	0	9218	1335	47	0	1167	0	MAN2C1	15	75651720	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	19593	75651720	26879672	1087	56630											
CRABP1	1381	broad.mit.edu	37	chr15	78633418	78633418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaggaaagtggccgtagCggctgcgtccaagccgcacg	16	12	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:78633418C>T	uc002bdp.2	+	2	209	c.104C>T	c.(103-105)GCG>GTG	p.A35V		NM_004378	NP_004369	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	35					multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity				0					Alitretinoin(DB00523)|Etretinate(DB00926)	GTGGCCGTAGCGGCTGCGTCC	0.642													T	78633418	C	T	78633418	3	4	84	1	0	0	0	0	1	0	0	0	3843	768	27	1	110	1	CRABP1	15	78633418	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2981698	78633418	23897974	1088	56631											
IREB2	3658	broad.mit.edu	37	chr15	78757619	78757619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagcaatggtggattttgCtgctatgagggaggcagtga	15	6	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:78757619C>T	uc002bdr.2	+	4	461	c.299C>T	c.(298-300)GCT>GTT	p.A100V	IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.2_Missense_Mutation_p.A100V	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	100							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GTGGATTTTGCTGCTATGAGG	0.358													T	78757619	C	T	78757619	3	4	84	1	0	0	0	0	1	0	0	0	7826	797	28	2	313	2	IREB2	15	78757619	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	124201	78757619	23773773	1089	56632											
CHRNA3	1136	broad.mit.edu	37	chr15	78909418	78909418	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtgcagggacacgcaTgaactctgccccaccatagt	9	14	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:78909418T>C	uc002bec.2	-	4	511	c.325A>G	c.(325-327)ATG>GTG	p.M109V	CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.M109V	NM_000743	NP_000734	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3	109	Extracellular (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|ovary(1)	4						GGGACACGCATGAACTCTGCC	0.552													C	78909418	T	C	78909418	3	2	84	1	0	0	0	0	1	0	0	0	3384	1464	51	3	1289	3	CHRNA3	15	78909418	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	151799	78909418	23621974	1090	56633											
RASGRF1	5923	broad.mit.edu	37	chr15	79296391	79296391	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttccgccggcggctcggTgacgatgtcttggtgatgga	16	10	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:79296391T>C	uc002beq.2	-	16	2625	c.2250A>G	c.(2248-2250)TCA>TCG	p.S750S	RASGRF1_uc002bep.2_Silent_p.S734S|RASGRF1_uc010blm.1_Silent_p.S659S|RASGRF1_uc002ber.3_Silent_p.S734S|RASGRF1_uc010unh.1_Silent_p.S145S|RASGRF1_uc002beo.2_5'UTR	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	750	N-terminal Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						GGCGGCTCGGTGACGATGTCT	0.637													C	79296391	T	C	79296391	2	2	84	1	0	0	0	0	0	0	0	1	13072	1683	59	3		3	RASGRF1	15	79296391	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	386973	79296391	23235001	1091	56634											
ARNT2	9915	broad.mit.edu	37	chr15	80806735	80806735	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacaggatacatcaaggcctGgccaccagcaggtaaggaga	12	10	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:80806735G>T	uc002bfr.2	+	8	1032	c.866G>T	c.(865-867)TGG>TTG	p.W289L	ARNT2_uc010unm.1_Missense_Mutation_p.W278L|ARNT2_uc002bfs.2_Missense_Mutation_p.W278L	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	289					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			ATCAAGGCCTGGCCACCAGCA	0.473													T	80806735	G	T	80806735	3	4	84	1	0	0	0	0	1	0	0	0	966	1357	47	5	896	5	ARNT2	15	80806735	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1510344	80806735	21724657	1092	56635											
KIAA1199	57214	broad.mit.edu	37	chr15	81235401	81235401	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaactccattctgcaaggcaTaccatggcagcttttcaact	7	12	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:81235401T>C	uc002bfw.1	+	27	4075	c.3815T>C	c.(3814-3816)ATA>ACA	p.I1272T	KIAA1199_uc010unn.1_Missense_Mutation_p.I1272T	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	1272										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						CTGCAAGGCATACCATGGCAG	0.567													C	81235401	T	C	81235401	3	2	84	1	0	0	0	0	1	0	0	0	8213	1406	49	3	3917	3	KIAA1199	15	81235401	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	428666	81235401	21295991	1093	56636											
IL16	3603	broad.mit.edu	37	chr15	81598480	81598480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctgcagcctcagcctctGcagccagtgatgtttctgta	9	13	4	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:81598480G>A	uc002bgh.3	+	17	4028	c.3652G>A	c.(3652-3654)GCA>ACA	p.A1218T	IL16_uc010blq.1_Missense_Mutation_p.A1172T|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.A1260T|IL16_uc002bgg.2_Missense_Mutation_p.A1218T|IL16_uc002bgi.1_Missense_Mutation_p.A608T|IL16_uc002bgj.2_Missense_Mutation_p.A712T|IL16_uc002bgk.2_Missense_Mutation_p.A517T|IL16_uc002bgl.1_Missense_Mutation_p.A517T|IL16_uc010unq.1_Missense_Mutation_p.A517T	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	1218					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						CTCAGCCTCTGCAGCCAGTGA	0.557													A	81598480	G	A	81598480	3	1	84	1	0	0	0	0	1	0	0	0	7633	1319	46	2	3714	2	IL16	15	81598480	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	363079	81598480	20932912	1094	56637											
MEX3B	84206	broad.mit.edu	37	chr15	82336953	82336953	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcgctttgattttacaAcctacgaaccagggtgcgga	11	11	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:82336953A>G	uc002bgq.1	-	2	573	c.258T>C	c.(256-258)GGT>GGC	p.G86G		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	86	KH 1.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						TGATTTTACAACCTACGAACC	0.602													G	82336953	A	G	82336953	2	3	84	1	0	0	0	0	0	0	0	1	9510	57	2	3		3	MEX3B	15	82336953	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	738473	82336953	20194439	1095	56638											
EFTUD1	79631	broad.mit.edu	37	chr15	82444259	82444259	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctggacctgtccatactgAgttctgaaaatcttcacttt	7	10	3	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:82444259A>G	uc002bgt.1	-	18	2705	c.2536T>C	c.(2536-2538)TCA>CCA	p.S846P	EFTUD1_uc002bgs.1_Missense_Mutation_p.S217P|EFTUD1_uc002bgu.1_Missense_Mutation_p.S795P	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	846					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			ovary(1)	1						GTCCATACTGAGTTCTGAAAA	0.443													G	82444259	A	G	82444259	3	3	84	1	0	0	0	0	1	0	0	0	4960	304	11	3	838	3	EFTUD1	15	82444259	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	107306	82444259	20087133	1096	56639											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84442355	84442355	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggagtgactgctcccggacCtgtgggggaggagcatcata	16	9	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:84442355C>A	uc002bjz.3	+	4	494	c.270C>A	c.(268-270)ACC>ACA	p.T90T	ADAMTSL3_uc002bjy.1_Silent_p.T90T|ADAMTSL3_uc010bmt.1_Silent_p.T90T|ADAMTSL3_uc010bmu.1_Silent_p.T90T	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	90	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTCCCGGACCTGTGGGGGAG	0.512													A	84442355	C	A	84442355	2	1	84	1	0	0	0	0	0	0	0	1	276	668	24	5		5	ADAMTSL3	15	84442355	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1998096	84442355	18089037	1097	56640											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84651224	84651224	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctgatccagtgggagaaGgatggccgttgcctgcagaa	14	9	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:84651224G>A	uc002bjz.3	+	21	3068	c.2844G>A	c.(2842-2844)AAG>AAA	p.K948K	ADAMTSL3_uc010bmt.1_Silent_p.K948K|ADAMTSL3_uc010bmu.1_Silent_p.K948K	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	948	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGTGGGAGAAGGATGGCCGTT	0.537													A	84651224	G	A	84651224	2	1	84	1	0	0	0	0	0	0	0	1	276	991	35	4		4	ADAMTSL3	15	84651224	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	208869	84651224	17880168	1098	56641											
ZNF592	9640	broad.mit.edu	37	chr15	85341570	85341570	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttataagtgctcctgtgaAatggtcttcaacaagaagag	9	6	2	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:85341570A>C	uc002bld.2	+	7	2937	c.2601A>C	c.(2599-2601)GAA>GAC	p.E867D	ZNF592_uc010upb.1_RNA	NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	867					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(2)	6			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCTCCTGTGAAATGGTCTTCA	0.527													C	85341570	A	C	85341570	3	2	84	1	0	0	0	0	1	0	0	0	18019	11	1	5	2615	5	ZNF592	15	85341570	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	690346	85341570	17189822	1099	56642											
RLBP1	6017	broad.mit.edu	37	chr15	89760476	89760476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctcctcccccgaggccGcctgcgcctgcaccatctcc	8	23	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:89760476G>A	uc002bnl.2	-	5	601	c.221C>T	c.(220-222)GCG>GTG	p.A74V		NM_000326	NP_000317	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	74					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)	1	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CCCCGAGGCCGCCTGCGCCTG	0.657													A	89760476	G	A	89760476	3	1	84	1	0	0	0	0	1	0	0	0	13388	1087	38	1	752	1	RLBP1	15	89760476	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	4418906	89760476	12770916	1100	56643											
WDR93	56964	broad.mit.edu	37	chr15	90274711	90274711	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtgctgcgcccattgcAgtctctcagctcagctgctc	9	17	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:90274711A>C	uc002boj.2	+	12	1349	c.1248A>C	c.(1246-1248)GCA>GCC	p.A416A	WDR93_uc010bnr.2_Silent_p.A416A|WDR93_uc010upz.1_Silent_p.A133A	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	416	WD.				electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			ovary(2)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CGCCCATTGCAGTCTCTCAGC	0.617													C	90274711	A	C	90274711	2	2	84	1	0	0	0	0	0	0	0	1	17337	175	7	5		5	WDR93	15	90274711	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	514235	90274711	12256681	1101	56644											
C15orf58	390637	broad.mit.edu	37	chr15	90785027	90785027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgtcacccggggagctcCgccgggaaagacatcacctt	12	13	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:90785027C>T	uc002bpc.2	+	4	1066	c.887C>T	c.(886-888)CCG>CTG	p.P296L		NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	hypothetical protein LOC390637	296					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity				0						CGGGGAGCTCCGCCGGGAAAG	0.537													T	90785027	C	T	90785027	3	4	84	1	0	0	0	0	1	0	0	0	1806	652	23	1	889	1	C15orf58	15	90785027	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	510316	90785027	11746365	1102	56645											
FURIN	5045	broad.mit.edu	37	chr15	91422045	91422045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcctcggggaacgggggcCgggaacatgacagctgcaac	18	11	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:91422045C>T	uc002bpu.1	+	9	1108	c.892C>T	c.(892-894)CGG>TGG	p.R298W		NM_002569	NP_002560	P09958	FURIN_HUMAN	furin preproprotein	298					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			central_nervous_system(4)|lung(2)|breast(1)	7	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GAACGGGGGCCGGGAACATGA	0.622													T	91422045	C	T	91422045	3	4	84	1	0	0	0	0	1	0	0	0	6099	643	23	1	922	1	FURIN	15	91422045	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	637018	91422045	11109347	1103	56646											
VPS33B	26276	broad.mit.edu	37	chr15	91542927	91542927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttctctctgcccaggaacCggagggctgagatctcagag	12	12	3	2	rs147814686		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:91542927C>T	uc002bqp.1	-	22	2108	c.1754G>A	c.(1753-1755)CGG>CAG	p.R585Q	VPS33B_uc002bqq.1_Missense_Mutation_p.R494Q|VPS33B_uc010uqu.1_Missense_Mutation_p.R558Q	NM_018668	NP_061138	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33B (yeast homolog))	585					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			ovary(2)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)					GCCCAGGAACCGGAGGGCTGA	0.443													T	91542927	C	T	91542927	3	4	84	1	0	0	0	0	1	0	0	0	17199	652	23	1	107	1	VPS33B	15	91542927	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	120882	91542927	10988465	1104	56647											
SLCO3A1	28232	broad.mit.edu	37	chr15	92669421	92669421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgtccactgcttgctaCgtctccttcctcttcctggg	9	15	2	0	rs140581310	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:92669421C>T	uc002bqx.2	+	6	1506	c.1305C>T	c.(1303-1305)TAC>TAT	p.Y435Y	SLCO3A1_uc002bqy.2_Silent_p.Y435Y|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Silent_p.Y377Y	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	435	Helical; Name=9; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			skin(1)	1	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CTGCTTGCTACGTCTCCTTCC	0.587													T	92669421	C	T	92669421	2	4	84	1	0	0	0	0	0	0	0	1	14728	547	19	1		1	SLCO3A1	15	92669421	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1126494	92669421	9861971	1105	56648											
LASS3	204219	broad.mit.edu	37	chr15	101041961	101041961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagaaggttttacaaagaCgagtccatcgtgatcctcaa	9	8	1	3	rs142269983		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:101041961C>T	uc002bvz.2	-	4	596	c.94G>A	c.(94-96)GTC>ATC	p.V32I	LASS3_uc002bwa.2_Missense_Mutation_p.V43I|LASS3_uc002bwb.2_Missense_Mutation_p.V32I	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	LAG1 longevity assurance homolog 3	32	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			ovary(2)|pancreas(1)|skin(1)	4	Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)			TTTACAAAGACGAGTCCATCG	0.373													T	101041961	C	T	101041961	3	4	84	1	0	0	0	0	1	0	0	0	8640	536	19	1	1097	1	LASS3	15	101041961	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	8372540	101041961	1489431	1106	56649											
MPG	4350	broad.mit.edu	37	chr16	133169	133169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtggccggcagaccccccGcaaccgaggcatgttcatga	14	14	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:133169G>A	uc002cfn.2	+	4	752	c.434G>A	c.(433-435)CGC>CAC	p.R145H	MPG_uc002cfm.2_Missense_Mutation_p.R128H|MPG_uc010bqp.2_Missense_Mutation_p.R128H|MPG_uc002cfo.2_Missense_Mutation_p.R140H	NM_002434	NP_002425	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase isoform a	145					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			ovary(1)|skin(1)	2		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CAGACCCCCCGCAACCGAGGC	0.607								BER_DNA_glycosylases					A	133169	G	A	133169	3	1	84	1	0	0	0	0	1	0	0	0	9724	1087	38	1	472	1	MPG	16	133169	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08		133169	90221584	1107	56650											
CACNA1H	8912	broad.mit.edu	37	chr16	1270166	1270166	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataccttcggacagcgctgCgtctccagccggccggcggc	13	17	1	0	rs59844753	by1000genomes	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:1270166C>T	uc002cks.2	+	35	6482	c.6234C>T	c.(6232-6234)TGC>TGT	p.C2078C	CACNA1H_uc002ckt.2_Silent_p.C2072C|CACNA1H_uc002cku.2_Silent_p.C773C|CACNA1H_uc010brj.2_Silent_p.C789C|CACNA1H_uc002ckv.2_Silent_p.C767C	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	2078	Cytoplasmic (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GACAGCGCTGCGTCTCCAGCC	0.741													T	1270166	C	T	1270166	2	4	84	1	0	0	0	0	0	0	0	1	2545	776	27	1		1	CACNA1H	16	1270166	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1136997	1270166	89084587	1108	56651											
BAIAP3	8938	broad.mit.edu	37	chr16	1396000	1396000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcaggacgtgtgtgaggCcaccctcttctatacggagc	11	13	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:1396000C>T	uc002clk.1	+	24	2327	c.2327C>T	c.(2326-2328)GCC>GTC	p.A776V	BAIAP3_uc002clj.2_Missense_Mutation_p.A758V|BAIAP3_uc010uuz.1_Missense_Mutation_p.A741V|BAIAP3_uc010uva.1_Missense_Mutation_p.A713V|BAIAP3_uc010uvc.1_Missense_Mutation_p.A705V	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	776	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				GTGTGTGAGGCCACCCTCTTC	0.677													T	1396000	C	T	1396000	3	4	84	1	0	0	0	0	1	0	0	0	1304	739	26	2	2421	2	BAIAP3	16	1396000	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	125834	1396000	88958753	1109	56652											
PTX4	390667	broad.mit.edu	37	chr16	1536186	1536186	+	Frame_Shift_Del	DEL	G	G	-													cccagcacgagggaccctccGggggggatctcatagccctc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:1536185_1536185CG>C	uc010uvf.2	-	2	1177	c.1177_1177CG>G	c.(1177-1179)ggafs	p.G393fs		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	398	Pentaxin.					extracellular region	metal ion binding	p.G393fs*57(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						AGGGACCCTCCGGGGGGGATC	0.662													-	1536186	G	-	1536186	7	5	84	1	0	1	0	1	0	0	0	0	12823	1103	39	0	248	0	PTX4	16	1536186	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	140186	1536186	88818567	1110	56653											
IFT140	9742	broad.mit.edu	37	chr16	1630815	1630815	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgtaaacgttttcttcaTgcattgctaacacaggcgtc	8	11	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:1630815T>C	uc002cmb.2	-	13	1831	c.1469A>G	c.(1468-1470)CAT>CGT	p.H490R	IFT140_uc002clz.2_Missense_Mutation_p.H141R	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	490										ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)				GTTTTCTTCATGCATTGCTAA	0.478													C	1630815	T	C	1630815	3	2	84	1	0	0	0	0	1	0	0	0	7556	1464	51	3	2995	3	IFT140	16	1630815	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	94629	1630815	88723938	1111	56654											
PKD1	5310	broad.mit.edu	37	chr16	2144016	2144016	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcagaccctccaccagtccTggggaagcagagacagacct	11	15	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:2144016T>C	uc002cos.1	-	36	10828	c.10619_splice	c.e36-1	p.G3540_splice	PKD1_uc002cot.1_Splice_Site_p.G3539_splice|PKD1_uc010bse.1_Splice_Site	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor						calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CCACCAGTCCTGGGGAAGCAG	0.682													C	2144016	T	C	2144016	5	2	84	1	0	0	0	0	0	0	1	0	11963	1594	55	3	2338	3	PKD1	16	2144016	Splice_Site	SNP	T	TCGA-BR-8372-01A-11D-2340-08	513201	2144016	88210737	1112	56655											
PKD1	5310	broad.mit.edu	37	chr16	2160630	2160630	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgttgtaagcgtgggtgAcctccggaccctcgagccac	13	13	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:2160630A>C	uc002cos.1	-	15	4747	c.4538T>G	c.(4537-4539)GTC>GGC	p.V1513G	PKD1_uc002cot.1_Missense_Mutation_p.V1513G	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1513	Extracellular (Potential).|PKD 10.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						AGCGTGGGTGACCTCCGGACC	0.662													C	2160630	A	C	2160630	3	2	84	1	0	0	0	0	1	0	0	0	11963	275	10	5	8501	5	PKD1	16	2160630	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	16614	2160630	88194123	1113	56656											
CASKIN1	57524	broad.mit.edu	37	chr16	2233851	2233851	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcgggagtcatgcggctgAtggtgggcaggtcgtagccg	18	10	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:2233851A>G	uc010bsg.1	-	15	1540	c.1508T>C	c.(1507-1509)ATC>ACC	p.I503T		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	503	SAM 1.				signal transduction	cytoplasm				skin(2)	2						CATGCGGCTGATGGTGGGCAG	0.662													G	2233851	A	G	2233851	3	3	84	1	0	0	0	0	1	0	0	0	2666	333	12	3	2811	3	CASKIN1	16	2233851	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	73221	2233851	88120902	1114	56657											
OR1F1	4992	broad.mit.edu	37	chr16	3254280	3254280	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagtcgagtgtctccgagTtcctcctcctgggactctcc	9	16	2	0	rs148405876	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:3254280T>C	uc010uwu.1	+	1	34	c.34T>C	c.(34-36)TTC>CTC	p.F12L		NM_012360	NP_036492	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F,	12	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGTCTCCGAGTTCCTCCTCCT	0.557													C	3254280	T	C	3254280	3	2	84	1	0	0	0	0	1	0	0	0	10956	1725	60	3	36	3	OR1F1	16	3254280	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1020429	3254280	87100473	1115	56658											
TRAP1	10131	broad.mit.edu	37	chr16	3739122	3739122	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtctcggcctggaactcAtgtttggaagtggaacctag	12	8	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:3739122A>G	uc002cvt.3	-	3	353	c.264T>C	c.(262-264)CAT>CAC	p.H88H	TRAP1_uc010uxf.1_Silent_p.H35H	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	88					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)				CCTGGAACTCATGTTTGGAAG	0.448													G	3739122	A	G	3739122	2	3	84	1	0	0	0	0	0	0	0	1	16452	214	8	3		3	TRAP1	16	3739122	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	484842	3739122	86615631	1116	56659											
CREBBP	1387	broad.mit.edu	37	chr16	3781199	3781199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcagggcctacctcgcaCacagtgcagtgccagcgcgt	15	14	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:3781199C>T	uc002cvv.2	-	30	5370	c.5166G>A	c.(5164-5166)GTG>GTA	p.V1722V	CREBBP_uc002cvw.2_Silent_p.V1684V	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1722	Interaction with TRERF1.|ZZ-type.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTACCTCGCACACAGTGCAGT	0.652			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				T	3781199	C	T	3781199	2	4	84	1	0	0	0	0	0	0	0	1	3861	465	17	4		4	CREBBP	16	3781199	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	42077	3781199	86573554	1117	56660											
ADCY9	115	broad.mit.edu	37	chr16	4165236	4165236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctgcgcagccggcctcCgccgcccactcgccggggga	14	20	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:4165236C>T	uc002cvx.2	-	2	747	c.208G>A	c.(208-210)GGA>AGA	p.G70R		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	70	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						AGCCGGCCTCCGCCGCCCACT	0.677													T	4165236	C	T	4165236	3	4	84	1	0	0	0	0	1	0	0	0	301	661	23	1	3893	1	ADCY9	16	4165236	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	384037	4165236	86189517	1118	56661											
CORO7	79585	broad.mit.edu	37	chr16	4415045	4415045	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgggaccacctcgtaacagTacagctgcctctcgccctga	10	16	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:4415045T>C	uc002cwh.3	-	11	977	c.857A>G	c.(856-858)TAC>TGC	p.Y286C	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.Y286C|CORO7_uc002cwg.3_Missense_Mutation_p.Y66C|CORO7_uc010uxh.1_Missense_Mutation_p.Y268C|CORO7_uc010uxi.1_Missense_Mutation_p.Y201C|CORO7_uc002cwi.1_Missense_Mutation_p.Y66C|CORO7_uc010uxj.1_RNA|CORO7_uc010btp.1_Missense_Mutation_p.Y66C	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	286						cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						CTCGTAACAGTACAGCTGCCT	0.657													C	4415045	T	C	4415045	3	2	84	1	0	0	0	0	1	0	0	0	3759	1638	57	3	1992	3	CORO7	16	4415045	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	249809	4415045	85939708	1119	56662											
NMRAL1	57407	broad.mit.edu	37	chr16	4516244	4516244	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcagccgcacactggtcaTgggaacgccaatgtcccgga	14	13	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:4516244T>C	uc002cwm.2	-	4	595	c.439A>G	c.(439-441)ATG>GTG	p.M147V	NMRAL1_uc002cwn.2_Missense_Mutation_p.M147V|NMRAL1_uc002cwo.2_Missense_Mutation_p.M147V|NMRAL1_uc002cwp.2_Missense_Mutation_p.M183V	NM_020677	NP_065728	Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	147						nucleus|perinuclear region of cytoplasm	binding			kidney(1)	1						ACACTGGTCATGGGAACGCCA	0.572													C	4516244	T	C	4516244	3	2	84	1	0	0	0	0	1	0	0	0	10501	1464	51	3	472	3	NMRAL1	16	4516244	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	101199	4516244	85838509	1120	56663											
C16orf71	146562	broad.mit.edu	37	chr16	4794910	4794910	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacaacaggctcatggaacAgctggccctcctgtgcacca	9	16	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:4794910A>G	uc002cxn.2	+	6	1403	c.941A>G	c.(940-942)CAG>CGG	p.Q314R		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	hypothetical protein LOC146562	314										central_nervous_system(1)	1						CTCATGGAACAGCTGGCCCTC	0.607													G	4794910	A	G	4794910	3	3	84	1	0	0	0	0	1	0	0	0	1830	188	7	3	959	3	C16orf71	16	4794910	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	278666	4794910	85559843	1121	56664											
PPL	5493	broad.mit.edu	37	chr16	4934705	4934705	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccacttgtttcttctgctcCtctgagagctttgccctcag	7	14	4	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:4934705C>A	uc002cyd.1	-	22	4041	c.3951G>T	c.(3949-3951)GAG>GAT	p.E1317D		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1317	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						TCTTCTGCTCCTCTGAGAGCT	0.567													A	4934705	C	A	4934705	3	1	84	1	0	0	0	0	1	0	0	0	12334	680	24	5	1323	5	PPL	16	4934705	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	139795	4934705	85420048	1122	56665											
CIITA	4261	broad.mit.edu	37	chr16	11000482	11000482	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggagcagcagcaagagccTggagcgggaactggccaccc	16	12	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:11000482T>C	uc002dai.3	+	11	1266	c.1133T>C	c.(1132-1134)CTG>CCG	p.L378P	CIITA_uc002daj.3_Missense_Mutation_p.L379P|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.L378P|CIITA_uc002dah.2_Missense_Mutation_p.L330P|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	378					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						AGCAAGAGCCTGGAGCGGGAA	0.687			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								C	11000482	T	C	11000482	3	2	84	1	0	0	0	0	1	0	0	0	3428	1580	55	3	1175	3	CIITA	16	11000482	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	6065777	11000482	79354271	1123	56666											
ABCC1	4363	broad.mit.edu	37	chr16	16235124	16235124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacagcatggccaaagacGccggcttggtgtgagcccca	12	13	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:16235124G>A	uc010bvi.2	+	31	4757	c.4582G>A	c.(4582-4584)GCC>ACC	p.A1528T	ABCC1_uc010bvj.2_Missense_Mutation_p.A1469T|ABCC1_uc010bvk.2_Missense_Mutation_p.A1472T|ABCC1_uc010bvl.2_Missense_Mutation_p.A1463T|ABCC1_uc010bvm.2_Missense_Mutation_p.A1413T|ABCC1_uc002del.3_Missense_Mutation_p.A1422T	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1528	Cytoplasmic.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGCCAAAGACGCCGGCTTGGT	0.587													A	16235124	G	A	16235124	3	1	84	1	0	0	0	0	1	0	0	0	49	1087	38	1	4704	1	ABCC1	16	16235124	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	5234642	16235124	74119629	1124	56667											
TMC5	79838	broad.mit.edu	37	chr16	19451796	19451797	+	Frame_Shift_Del	DEL	TA	TA	-													gctccagcagcagtggaaacTatgcaggctccagaacacat							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:19451795_19451796CTA>C	uc002dgc.4	+	2	1184_1185	c.435_436CTA>C	c.(433-438)aactatfs	p.N145fs	TMC5_uc010vaq.2_Frame_Shift_Del_p.N145fs|TMC5_uc002dgb.4_Frame_Shift_Del_p.N145fs|TMC5_uc010var.2_Frame_Shift_Del_p.N145fs	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	145						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCAGTGGAAACTATGCAGGCTC	0.5													-	19451797	TA	-	19451796	7	5	84	1	0	1	0	1	0	0	0	0	15985	1522	53	0	438	0	TMC5	16	19451796	Frame_Shift_Del	DEL	TA	TCGA-BR-8372-01A-11D-2340-08	3216672	19451796	70902957	1125	56668											
TMC5	79838	broad.mit.edu	37	chr16	19452109	19452109	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagatgctgagaatggtcAtgattatggctcttctgaga	11	6	4	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:19452109A>G	uc002dgc.3	+	3	1498	c.749A>G	c.(748-750)CAT>CGT	p.H250R	TMC5_uc010vaq.1_Missense_Mutation_p.H250R|TMC5_uc002dgb.3_Missense_Mutation_p.H250R|TMC5_uc010var.1_Missense_Mutation_p.H250R	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	250	Extracellular (Potential).					integral to membrane				skin(1)	1						GAGAATGGTCATGATTATGGC	0.468													G	19452109	A	G	19452109	3	3	84	1	0	0	0	0	1	0	0	0	15985	217	8	3	751	3	TMC5	16	19452109	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	313	19452109	70902644	1126	56669											
GPR139	124274	broad.mit.edu	37	chr16	20043389	20043389	+	Frame_Shift_Del	DEL	G	G	-													gtaaagaatcatgatgatgcGgggggcccaaagtgtggcaa					rs140063049	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:20043388_20043388CG>C	uc002dgu.1	-	1	893	c.731_731CG>G	c.(730-732)cgcfs	p.R244fs	GPR139_uc010vaw.1_Frame_Shift_Del_p.R151fs	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	244						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CATGATGATGCGGGGGGCCCA	0.542													-	20043389	G	-	20043389	7	5	84	1	0	1	0	1	0	0	0	0	6648	1116	39	0	335	0	GPR139	16	20043389	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	591280	20043389	70311364	1127	56670											
EARS2	124454	broad.mit.edu	37	chr16	23541078	23541078	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accacacctgtctcagcaggAggatcctctccacgtagact	8	15	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:23541078A>G	uc002dlt.3	-	6	1240	c.1208T>C	c.(1207-1209)CTC>CCC	p.L403P	EARS2_uc002dlr.3_RNA|EARS2_uc002dls.3_RNA|EARS2_uc002dlu.2_Missense_Mutation_p.L403P	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2 precursor	403					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding				0				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	TCTCAGCAGGAGGATCCTCTC	0.592													G	23541078	A	G	23541078	3	3	84	1	0	0	0	0	1	0	0	0	4878	304	11	3	379	3	EARS2	16	23541078	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	3497689	23541078	66813675	1128	56671											
TNRC6A	27327	broad.mit.edu	37	chr16	24801521	24801521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtggaggctcttatggtActacatggggtgcctatggt	14	6	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:24801521A>G	uc002dmm.2	+	6	1672	c.1558A>G	c.(1558-1560)ACT>GCT	p.T520A	TNRC6A_uc010bxs.2_Missense_Mutation_p.T267A|TNRC6A_uc010vcc.1_Missense_Mutation_p.T267A|TNRC6A_uc002dmn.2_Missense_Mutation_p.T267A|TNRC6A_uc002dmo.2_Missense_Mutation_p.T267A	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	520	Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		CTCTTATGGTACTACATGGGG	0.463													G	24801521	A	G	24801521	3	3	84	1	0	0	0	0	1	0	0	0	16337	391	14	3	1580	3	TNRC6A	16	24801521	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1260443	24801521	65553232	1129	56672											
TNRC6A	27327	broad.mit.edu	37	chr16	24806029	24806029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccatatacaaagaaaAtgtcatcgaaggtaaacatt	7	8	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:24806029A>G	uc002dmm.2	+	8	3631	c.3517A>G	c.(3517-3519)ATG>GTG	p.M1173V	TNRC6A_uc010bxs.2_Missense_Mutation_p.M920V|TNRC6A_uc010vcc.1_Missense_Mutation_p.M920V|TNRC6A_uc002dmn.2_Missense_Mutation_p.M920V|TNRC6A_uc002dmo.2_Missense_Mutation_p.M861V	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1173	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		TACAAAGAAAATGTCATCGAA	0.388													G	24806029	A	G	24806029	3	3	84	1	0	0	0	0	1	0	0	0	16337	101	4	3	3547	3	TNRC6A	16	24806029	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	4508	24806029	65548724	1130	56673											
GTF3C1	2975	broad.mit.edu	37	chr16	27476654	27476654	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgagaaccgtctgcgcagcTcctccttgtcaatcccaaaa	7	16	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:27476654T>G	uc002dov.1	-	33	5322	c.5282A>C	c.(5281-5283)GAG>GCG	p.E1761A	GTF3C1_uc002dou.2_Missense_Mutation_p.E1761A	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1761						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						TCTGCGCAGCTCCTCCTTGTC	0.562													G	27476654	T	G	27476654	3	3	84	1	0	0	0	0	1	0	0	0	6872	1551	54	5	1067	5	GTF3C1	16	27476654	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	2670625	27476654	62878099	1131	56674											
GTF3C1	2975	broad.mit.edu	37	chr16	27497449	27497449	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcatggtagcgcagccTtttgcttttttctcctggga	9	10	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:27497449T>C	uc002dov.1	-	24	3767	c.3727A>G	c.(3727-3729)AGG>GGG	p.R1243G	GTF3C1_uc002dou.2_Missense_Mutation_p.R1243G	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1243						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						TAGCGCAGCCTTTTGCTTTTT	0.567													C	27497449	T	C	27497449	3	2	84	1	0	0	0	0	1	0	0	0	6872	1608	56	3	2658	3	GTF3C1	16	27497449	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	20795	27497449	62857304	1132	56675											
XPO6	23214	broad.mit.edu	37	chr16	28167613	28167613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacagttctggctgctgccGttaactgacgccatctttct	8	13	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:28167613G>A	uc002dpa.1	-	7	1380	c.879C>T	c.(877-879)AAC>AAT	p.N293N	XPO6_uc002dpb.1_Silent_p.N279N|XPO6_uc010vcp.1_Silent_p.N293N	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	293					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						GGCTGCTGCCGTTAACTGACG	0.572													A	28167613	G	A	28167613	2	1	84	1	0	0	0	0	0	0	0	1	17445	1136	40	1		1	XPO6	16	28167613	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	670164	28167613	62187140	1133	56676											
CCDC101	112869	broad.mit.edu	37	chr16	28596283	28596283	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgaacatccagaagacccAtgagcggatgcagacagaga	12	9	0	6			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:28596283A>G	uc002dqf.2	+	3	310	c.125A>G	c.(124-126)CAT>CGT	p.H42R	uc010vct.1_Intron	NM_138414	NP_612423	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	42	Potential.				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(1)	1						CAGAAGACCCATGAGCGGATG	0.547													G	28596283	A	G	28596283	3	3	84	1	0	0	0	0	1	0	0	0	2735	217	8	3	131	3	CCDC101	16	28596283	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	428670	28596283	61758470	1134	56677											
SULT1A2	6799	broad.mit.edu	37	chr16	28604641	28604641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctcccaccactcttgcaCgtgctggtaccaggacccat	8	17	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:28604641C>T	uc002dqg.1	-	6	877	c.526G>A	c.(526-528)GTG>ATG	p.V176M	uc010vct.1_Intron|SULT1A2_uc002dqh.1_Missense_Mutation_p.V176M	NM_177528	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A,	176					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						CACTCTTGCACGTGCTGGTAC	0.587													T	28604641	C	T	28604641	3	4	84	1	0	0	0	0	1	0	0	0	15372	536	19	1	373	1	SULT1A2	16	28604641	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	8358	28604641	61750112	1135	56678											
ATXN2L	11273	broad.mit.edu	37	chr16	28845454	28845454	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actccctccatcccggtgctGacagcaggccagagtgggct	12	15	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:28845454G>T	uc002drc.2	+	16	2262	c.2094G>T	c.(2092-2094)CTG>CTT	p.L698L	uc010vct.1_Intron|ATXN2L_uc002drb.2_Silent_p.L698L|ATXN2L_uc002dqy.2_Silent_p.L698L|ATXN2L_uc002dra.2_Silent_p.L698L|ATXN2L_uc002dqz.2_Silent_p.L698L|ATXN2L_uc010vdb.1_Silent_p.L704L|ATXN2L_uc002dre.2_Silent_p.L698L|ATXN2L_uc002drf.2_Silent_p.L107L|ATXN2L_uc002drg.2_5'UTR	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	698						membrane				upper_aerodigestive_tract(1)|ovary(1)	2						TCCCGGTGCTGACAGCAGGCC	0.542													T	28845454	G	T	28845454	2	4	84	1	0	0	0	0	0	0	0	1	1212	1277	45	5		5	ATXN2L	16	28845454	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	240813	28845454	61509299	1136	56679											
ATXN2L	11273	broad.mit.edu	37	chr16	28847350	28847350	+	Frame_Shift_Del	DEL	G	G	-													tgcacccaccccagagtcatGgggggcccccccaaggcgcg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:28847349_28847349TG>T	uc002dqy.3	+	21	3158	c.2991_2991TG>T	c.(2989-2991)catfs	p.H997fs	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002dra.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drb.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drc.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc010vdb.2_Frame_Shift_Del_p.H1003fs|ATXN2L_uc002dre.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drf.3_Frame_Shift_Del_p.H406fs|ATXN2L_uc002drg.3_Frame_Shift_Del_p.H280fs	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	997						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCAGAGTCATGGGGGGCCCC	0.687													-	28847350	G	-	28847350	7	5	84	1	0	1	0	1	0	0	0	0	1212	1348	47	0	3078	0	ATXN2L	16	28847350	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	1896	28847350	61507403	1137	56680											
RABEP2	79874	broad.mit.edu	37	chr16	28931233	28931233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgctcctgcttcagggcGgtgatctgggcttcatagct	13	11	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:28931233G>A	uc002drq.2	-	3	354	c.306C>T	c.(304-306)ACC>ACT	p.T102T	uc010vct.1_Intron|RABEP2_uc010vdf.1_Silent_p.T31T|RABEP2_uc010byn.2_Silent_p.T102T|RABEP2_uc002drr.2_Silent_p.T102T	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	102	Potential.				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			ovary(1)|breast(1)|skin(1)	3						GCTTCAGGGCGGTGATCTGGG	0.552													A	28931233	G	A	28931233	2	1	84	1	0	0	0	0	0	0	0	1	12962	1103	39	1		1	RABEP2	16	28931233	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	83883	28931233	61423520	1138	56681											
NFATC2IP	84901	broad.mit.edu	37	chr16	28970321	28970321	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctcccacagactgtgtggTactaacaagttctccagagg	10	12	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:28970321T>C	uc002dru.2	+	7	1016	c.1001T>C	c.(1000-1002)GTA>GCA	p.V334A	uc010vct.1_Intron|NFATC2IP_uc002drt.2_Missense_Mutation_p.V55A|NFATC2IP_uc002drv.2_Missense_Mutation_p.V53A|NFATC2IP_uc010vdh.1_Missense_Mutation_p.V42A	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells,	334						cytoplasm|nucleus				ovary(1)	1						GACTGTGTGGTACTAACAAGT	0.587													C	28970321	T	C	28970321	3	2	84	1	0	0	0	0	1	0	0	0	10363	1638	57	3	1027	3	NFATC2IP	16	28970321	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	39088	28970321	61384432	1139	56682											
TAOK2	9344	broad.mit.edu	37	chr16	29989427	29989427	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggcccgggatgtccggaaTagtgaggtggtggccatcaa	16	8	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:29989427T>C	uc002dva.1	+	3	933	c.150T>C	c.(148-150)AAT>AAC	p.N50N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Silent_p.N50N|TAOK2_uc002dvc.1_Silent_p.N50N|TAOK2_uc010bzm.1_Silent_p.N50N|TAOK2_uc002dvd.1_5'Flank	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	50	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						ATGTCCGGAATAGTGAGGTGG	0.587													C	29989427	T	C	29989427	2	2	84	1	0	0	0	0	0	0	0	1	15545	1403	49	3		3	TAOK2	16	29989427	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1019106	29989427	60365326	1140	56683											
TAOK2	9344	broad.mit.edu	37	chr16	30002182	30002182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagctggagctgctcaaCgcttaccagagcaagatcaa	11	11	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:30002182C>T	uc002dvc.1	+	18	3306	c.2523C>T	c.(2521-2523)AAC>AAT	p.N841N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	NM_004783	NP_004774	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						AGCTGCTCAACGCTTACCAGA	0.622													T	30002182	C	T	30002182	2	4	84	1	0	0	0	0	0	0	0	1	15545	535	19	1		1	TAOK2	16	30002182	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	12755	30002182	60352571	1141	56684											
ZNF629	23361	broad.mit.edu	37	chr16	30793629	30793629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgctggaggagcacagagcGatccaggaagctctctccgc	13	12	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:30793629G>A	uc002dzs.1	-	3	2228	c.2020C>T	c.(2020-2022)CGC>TGC	p.R674C		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	674	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			AGCACAGAGCGATCCAGGAAG	0.612													A	30793629	G	A	30793629	3	1	84	1	0	0	0	0	1	0	0	0	18050	1058	37	1	593	1	ZNF629	16	30793629	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	791447	30793629	59561124	1142	56685											
BCL7C	9274	broad.mit.edu	37	chr16	30899188	30899188	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaggcaggccggcttctcAggggtcaggggcatttgggc	18	10	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:30899188A>G	uc002dzv.2	-	6	786	c.652T>C	c.(652-654)TGA>CGA	p.*218R	BCL7C_uc002dzt.1_Intron|uc002dzu.2_Intron	NM_004765	NP_004756	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	218					apoptosis						0			Colorectal(24;0.198)			CCGGCTTCTCAGGGGTCAGGG	0.567													G	30899188	A	G	30899188	4	3	84	1	0	0	0	0	0	0	0	0	1380	201	7	3	5	3	BCL7C	16	30899188	Nonstop_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	105559	30899188	59455565	1143	56686											
SETD1A	9739	broad.mit.edu	37	chr16	30992103	30992103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccggtccgagcagcggcGgctgctgagcgccatcggta	17	14	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:30992103G>A	uc002ead.1	+	16	5311	c.4625G>A	c.(4624-4626)CGG>CAG	p.R1542Q		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						GAGCAGCGGCGGCTGCTGAGC	0.542													A	30992103	G	A	30992103	3	1	84	1	0	0	0	0	1	0	0	0	14130	1116	39	1	4683	1	SETD1A	16	30992103	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	92915	30992103	59362650	1144	56687											
PHKB	5257	broad.mit.edu	37	chr16	47630429	47630429	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacaagcactttatatcatCgcaaaactcctgggtaagtg	9	9	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:47630429C>T	uc002eev.3	+	13	1402	c.1350C>T	c.(1348-1350)ATC>ATT	p.I450I	PHKB_uc002eeu.3_Silent_p.I443I	NM_000293	NP_000284	Q93100	KPBB_HUMAN	phosphorylase kinase, beta isoform a	450					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			ovary(1)|large_intestine(1)|breast(1)	3		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TTTATATCATCGCAAAACTCC	0.363													T	47630429	C	T	47630429	2	4	84	1	0	0	0	0	0	0	0	1	11845	874	31	1		1	PHKB	16	47630429	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	16638326	47630429	42724324	1145	56688											
CCDC135	84229	broad.mit.edu	37	chr16	57732056	57732056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccagatcactgtctcagcGgagctcccgtgagtgtggca	12	12	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:57732056G>A	uc002emi.2	+	2	284	c.195G>A	c.(193-195)GCG>GCA	p.A65A	CCDC135_uc002emj.2_Silent_p.A65A|CCDC135_uc002emk.2_Silent_p.A65A	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	65	Potential.					cytoplasm				central_nervous_system(1)	1						CTGTCTCAGCGGAGCTCCCGT	0.617													A	57732056	G	A	57732056	2	1	84	1	0	0	0	0	0	0	0	1	2769	1103	39	1		1	CCDC135	16	57732056	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	10101627	57732056	32622697	1146	56689											
KIFC3	3801	broad.mit.edu	37	chr16	57829017	57829017	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacttcgggcactggagTcctcgtcaccgcagactggg	13	14	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:57829017T>C	uc002emp.2	-	3	406	c.209A>G	c.(208-210)GAC>GGC	p.D70G	KIFC3_uc010cdf.2_5'UTR|KIFC3_uc002emo.3_5'UTR|KIFC3_uc010vhy.1_5'UTR|KIFC3_uc002emq.2_Missense_Mutation_p.D70G|KIFC3_uc010vhz.1_Missense_Mutation_p.D92G|KIFC3_uc002emr.1_Intron|KIFC3_uc010cdg.1_Intron	NM_005550	NP_005541	Q9BVG8	KIFC3_HUMAN	kinesin family member C3 isoform 1	70					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			central_nervous_system(2)|ovary(1)	3		all_neural(199;0.224)				GGCACTGGAGTCCTCGTCACC	0.637													C	57829017	T	C	57829017	3	2	84	1	0	0	0	0	1	0	0	0	8314	1667	58	3	2369	3	KIFC3	16	57829017	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	96961	57829017	32525736	1147	56690											
CNGB1	1258	broad.mit.edu	37	chr16	57938728	57938728	+	Frame_Shift_Del	DEL	C	C	-													agtgtcttggggtcaggcagCcccccgatggtgatgagggt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:57938727_57938727GC>G	uc002emt.2	-	25	2610	c.2545_2545GC>C	c.(2545-2547)ctgfs	p.L849fs	CNGB1_uc010cdh.2_Frame_Shift_Del_p.L843fs	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	849					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGGTCAGGCAGCCCCCCGATG	0.507													-	57938728	C	-	57938728	7	5	84	1	0	1	0	1	0	0	0	0	3600	726	26	0	1243	0	CNGB1	16	57938728	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	109711	57938728	32416025	1148	56691											
C16orf57	79650	broad.mit.edu	37	chr16	58043956	58043956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccagagtgtggttctgcGccaccactggatcctcccct	10	16	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:58043956G>A	uc002emz.2	+	3	472	c.389G>A	c.(388-390)CGC>CAC	p.R130H	C16orf57_uc010via.1_Missense_Mutation_p.R130H|C16orf57_uc002emy.2_RNA|C16orf57_uc010vib.1_Missense_Mutation_p.R130H|C16orf57_uc010vic.1_Missense_Mutation_p.R79H	NM_024598	NP_078874	Q9BQ65	CP057_HUMAN	hypothetical protein LOC79650	130											0						GTGGTTCTGCGCCACCACTGG	0.592													A	58043956	G	A	58043956	3	1	84	1	0	0	0	0	1	0	0	0	1821	1087	38	1	399	1	C16orf57	16	58043956	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	105228	58043956	32310797	1149	56692											
CSNK2A2	1459	broad.mit.edu	37	chr16	58202515	58202515	+	Frame_Shift_Del	DEL	T	T	-													tgcctggctgtaatggtaccTttttctgttggtgatctatc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:58202515delT	uc002enc.2	-	6	654	c.512delA	c.(511-513)AAGfs	p.K171fs		NM_001896	NP_001887	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	171	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						TAATGGTACCTTTTTCTGTTG	0.463													-	58202515	T	-	58202515	7	5	84	1	0	1	0	1	0	0	0	0	3958	1623	56	0	564	0	CSNK2A2	16	58202515	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	158559	58202515	32152238	1150	56693											
CNOT1	23019	broad.mit.edu	37	chr16	58585059	58585059	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtcatatttgactgtgAgagattattgaaaataaaag	9	2	1	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:58585059A>C	uc002env.2	-	24	3612	c.3319T>G	c.(3319-3321)TCA>GCA	p.S1107A	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.S1102A|CNOT1_uc002enx.2_Missense_Mutation_p.S1107A|CNOT1_uc002enz.1_Missense_Mutation_p.S536A|CNOT1_uc010vik.1_Missense_Mutation_p.S103A|SNORA46_uc002eny.1_5'Flank	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1107					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTTGACTGTGAGAGATTATTG	0.363													C	58585059	A	C	58585059	3	2	84	1	0	0	0	0	1	0	0	0	3617	304	11	5	4137	5	CNOT1	16	58585059	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	382544	58585059	31769694	1151	56694											
CDH8	1006	broad.mit.edu	37	chr16	61747819	61747819	+	Frame_Shift_Del	DEL	T	T	-													tgtataagaaataatgtccgTttttgggatcatctttgtcc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:61747818_61747818GT>G	uc002eog.2	-	9	2536	c.1581_1581AC>C	c.(1579-1581)aacfs	p.N527fs		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	527	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AATAATGTCCGTTTTTGGGAT	0.378													-	61747819	T	-	61747819	7	5	84	1	0	1	0	1	0	0	0	0	3116	1725	60	0	831	0	CDH8	16	61747819	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	3162760	61747819	28606934	1152	56695											
CDH16	1014	broad.mit.edu	37	chr16	66945906	66945906	+	Frame_Shift_Del	DEL	G	G	-													tagctctcctggtccaacttGgggggtggcatcactctctc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:66945905_66945905TG>T	uc002eql.3	-	12	1881	c.1687_1687CA>A	c.(1687-1689)aagfs	p.K563fs	CDH16_uc010cdy.3_Frame_Shift_Del_p.K563fs|CDH16_uc021tjx.1_Frame_Shift_Del_p.K563fs|CDH16_uc002eqm.3_Frame_Shift_Del_p.K466fs	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	563	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGGTCCAACTTGGGGGGTGGC	0.662													-	66945906	G	-	66945906	7	5	84	1	0	1	0	1	0	0	0	0	3101	1335	47	0	827	0	CDH16	16	66945906	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	5198087	66945906	23408847	1153	56696											
CDH16	1014	broad.mit.edu	37	chr16	66947518	66947519	+	Splice_Site	INS	-	-	G													acccccactccagtgtacctINSgggggggacaccccgggcca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:66947518_66947519insG	uc002eql.2	-	8	854	c.781_splice	c.e8-1	p.V261_splice	CDH16_uc010cdy.2_Splice_Site_p.V261_splice|CDH16_uc002eqm.2_Splice_Site_p.V164_splice	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCAGTGTACCTGGGGGGGACAC	0.594													G	66947519	-	G	66947518	8	5	84	1	0	1	1	0	0	0	1	0	3101	1594	55	0	1754	0	CDH16	16	66947518	Splice_Site	INS	-	TCGA-BR-8372-01A-11D-2340-08	1612	66947518	23407235	1154	56697	247	2									
CDH16	1014	broad.mit.edu	37	chr16	66947519	66947520	+	Splice_Site	INS	-	-	G													cccccactccagtgtacctgINSggggggacaccccgggccaa							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:66947518_66947519T>TG	uc002eql.3	-	8	975	c.781_splice	c.e8-1	p.V261_splice	CDH16_uc010cdy.3_Splice_Site_p.V261_splice|CDH16_uc021tjx.1_Splice_Site_p.V261_splice|CDH16_uc002eqm.3_Splice_Site_p.V164_splice	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	261	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCAGTGTACCTGGGGGGGACAC	0.594													G	66947520	-	G	66947519	8	5	84	1	0	1	1	0	0	0	1	0	3101	1363	47	0		0	CDH16	16	66947519	Splice_Site	INS	-	TCGA-BR-8372-01A-11D-2340-08	1	66947519	23407234	1155	56698	247	2									
RRAD	6236	broad.mit.edu	37	chr16	66956070	66956070	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatgcggcccaagaagcgcTtcgcctttttgccaaggctc	11	14	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:66956070T>C	uc002eqn.2	-	5	988	c.836A>G	c.(835-837)AAG>AGG	p.K279R	RRAD_uc002eqo.2_Missense_Mutation_p.K279R	NM_001128850	NP_001122322	P55042	RAD_HUMAN	Ras-related associated with diabetes	279	Calmodulin-binding.				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		CAAGAAGCGCTTCGCCTTTTT	0.622													C	66956070	T	C	66956070	3	2	84	1	0	0	0	0	1	0	0	0	13671	1609	56	3	94	3	RRAD	16	66956070	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	8551	66956070	23398683	1156	56699											
CTCF	10664	broad.mit.edu	37	chr16	67645339	67645340	+	Frame_Shift_Ins	INS	-	-	A													agactatcagccaccagccaINSaaaaaacaaagaaaaccaaa							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:67645338_67645339C>CA	uc002etl.3	+	2	1047_1048	c.603_604C>CA	c.(601-606)gccaaafs	p.A201fs	CTCF_uc010cek.3_Intron	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	201					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGCCACCAGCCAAAAAAACAAA	0.475													A	67645340	-	A	67645339	7	5	84	1	0	1	1	0	0	0	0	0	4000	131	5	0	606	0	CTCF	16	67645339	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	689269	67645339	22709414	1157	56700											
RLTPR	146206	broad.mit.edu	37	chr16	67682131	67682131	+	Frame_Shift_Del	DEL	C	C	-													gcgggtgtagccaacagcctCcccccgcagctcttcgcagc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:67682131delC	uc002etn.2	+	14	1368	c.1248delC	c.(1246-1248)CTCfs	p.L416fs	RLTPR_uc010cel.1_Frame_Shift_Del_p.L416fs|RLTPR_uc010vjr.1_Intron	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	416	LRR 7.									breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CCAACAGCCTCCCCCCGCAGC	0.701													-	67682131	C	-	67682131	7	5	84	1	0	1	0	1	0	0	0	0	13394	842	30	0	1302	0	RLTPR	16	67682131	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	36792	67682131	22672622	1158	56701											
C16orf48	84080	broad.mit.edu	37	chr16	67697207	67697207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcagcagtaccagctcacGcagcagctggctctggccta	12	14	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:67697207G>A	uc002etw.1	-	7	1181	c.898C>T	c.(898-900)CGT>TGT	p.R300C	ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|C16orf48_uc002etv.1_Missense_Mutation_p.R182C|C16orf48_uc010cem.1_3'UTR	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN	hypothetical protein LOC84080	300						microtubule cytoskeleton	protein binding				0		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		ACCAGCTCACGCAGCAGCTGG	0.672													A	67697207	G	A	67697207	3	1	84	1	0	0	0	0	1	0	0	0	1816	1087	38	1	146	1	C16orf48	16	67697207	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	15076	67697207	22657546	1159	56702											
GFOD2	81577	broad.mit.edu	37	chr16	67709180	67709180	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgatggcatccaccacgcTctgcatgtacagcccatcct	7	16	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:67709180T>C	uc002eub.2	-	3	1331	c.1036A>G	c.(1036-1038)AGC>GGC	p.S346G	GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.S241G	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain	346						proteinaceous extracellular matrix	binding|oxidoreductase activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TCCACCACGCTCTGCATGTAC	0.672													C	67709180	T	C	67709180	3	2	84	1	0	0	0	0	1	0	0	0	6344	1551	54	3	125	3	GFOD2	16	67709180	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	11973	67709180	22645573	1160	56703											
EDC4	23644	broad.mit.edu	37	chr16	67915891	67915891	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcactggctgaggggcaGcagcggggagggcagctgca	20	10	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:67915891G>A	uc002eur.2	+	23	3205	c.3039G>A	c.(3037-3039)CAG>CAA	p.Q1013Q	EDC4_uc010cer.2_Silent_p.Q632Q|EDC4_uc002eus.2_Silent_p.Q743Q|EDC4_uc002eut.1_5'Flank|NRN1L_uc002euu.2_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	1013	Potential.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGAGGGGCAGCAGCGGGGAG	0.637													A	67915891	G	A	67915891	2	1	84	1	0	0	0	0	0	0	0	1	4908	962	34	2		2	EDC4	16	67915891	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	206711	67915891	22438862	1161	56704											
COG8	84342	broad.mit.edu	37	chr16	69368633	69368633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcccaggatggctggagCcgagatgagcatgtaggagt	18	7	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:69368633C>T	uc002ewy.2	-	3	1275	c.1204G>A	c.(1204-1206)GCT>ACT	p.A402T	COG8_uc002ewz.3_Missense_Mutation_p.A402T	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	402					protein transport	Golgi membrane|Golgi transport complex				ovary(1)	1						ATGGCTGGAGCCGAGATGAGC	0.562													T	69368633	C	T	69368633	3	4	84	1	0	0	0	0	1	0	0	0	3664	739	26	2	646	2	COG8	16	69368633	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1452742	69368633	20986120	1162	56705											
AARS	16	broad.mit.edu	37	chr16	70291987	70291987	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccagcaggcccagaggggTcatccagcaactcggacacc	12	15	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:70291987T>C	uc002eyn.1	-	15	2236	c.2126A>G	c.(2125-2127)GAC>GGC	p.D709G	AARS_uc010vlu.1_Missense_Mutation_p.D539G	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	709					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	CCCAGAGGGGTCATCCAGCAA	0.587													C	70291987	T	C	70291987	3	2	84	1	0	0	0	0	1	0	0	0	19	1667	58	3	808	3	AARS	16	70291987	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	923354	70291987	20062766	1163	56706											
COG4	25839	broad.mit.edu	37	chr16	70548291	70548291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgtccaggcacaagtagCgatgagtatgtgctgcagcc	12	10	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:70548291C>T	uc002ezc.2	-	4	502	c.491G>A	c.(490-492)CGC>CAC	p.R164H	COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.R164H|COG4_uc002eze.2_5'UTR	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	160					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				GCACAAGTAGCGATGAGTATG	0.313													T	70548291	C	T	70548291	3	4	84	1	0	0	0	0	1	0	0	0	3660	768	27	1	1942	1	COG4	16	70548291	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	256304	70548291	19806462	1164	56707											
MTSS1L	92154	broad.mit.edu	37	chr16	70698190	70698190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggccgtgggcagccccGcggtgggcagcccagcagtg	18	14	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:70698190G>A	uc002ezj.2	-	15	1894	c.1634C>T	c.(1633-1635)GCG>GTG	p.A545V		NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	545					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1						GGGCAGCCCCGCGGTGGGCAG	0.726													A	70698190	G	A	70698190	3	1	84	1	0	0	0	0	1	0	0	0	9963	1087	38	1	613	1	MTSS1L	16	70698190	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	149899	70698190	19656563	1165	56708											
HYDIN	54768	broad.mit.edu	37	chr16	70902576	70902576	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacctggtctgcagggagcTgaaacataatcctggagagc	14	9	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:70902576T>C	uc002ezr.2	-	66	11332	c.11204A>G	c.(11203-11205)CAG>CGG	p.Q3735R	HYDIN_uc010cfy.2_5'Flank	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3736										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TGCAGGGAGCTGAAACATAAT	0.522													C	70902576	T	C	70902576	3	2	84	1	0	0	0	0	1	0	0	0	7467	1580	55	3	4242	3	HYDIN	16	70902576	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	204386	70902576	19452177	1166	56709											
ZNF23	7571	broad.mit.edu	37	chr16	71483562	71483562	+	Frame_Shift_Del	DEL	A	A	-													tatgagtttgaactttgactAaaaaaacactcctccacggg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:71483561_71483561TA>T	uc002faf.3	-	5	1181	c.367_367TA>A	c.(367-369)agtfs	p.S123fs	ZNF23_uc002fah.3_Frame_Shift_Del_p.S123fs|ZNF23_uc002fad.3_Frame_Shift_Del_p.S65fs|ZNF23_uc010vmf.2_Frame_Shift_Del_p.S65fs|ZNF23_uc002fag.3_Frame_Shift_Del_p.S65fs|ZNF23_uc002fai.3_Frame_Shift_Del_p.S162fs	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GAACTTTGACTAAAAAAACAC	0.443													-	71483562	A	-	71483562	7	5	84	1	0	1	0	1	0	0	0	0	17780	359	13	0	1569	0	ZNF23	16	71483562	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	580986	71483562	18871191	1167	56710											
CFDP1	10428	broad.mit.edu	37	chr16	75446576	75446576	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgtcatcttcctcctcacTactgcttccctcagattctg	5	16	5	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:75446576T>C	uc002fdy.2	-	3	396	c.259A>G	c.(259-261)AGT>GGT	p.S87G	CFDP1_uc002fdz.2_Silent_p.V10V|CFDP1_uc002fea.1_Missense_Mutation_p.S87G	NM_006324	NP_006315	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	87	Glu-rich.				multicellular organismal development					upper_aerodigestive_tract(1)	1						TCCTCCTCACTACTGCTTCCC	0.493													C	75446576	T	C	75446576	3	2	84	1	0	0	0	0	1	0	0	0	3282	1522	53	3	660	3	CFDP1	16	75446576	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	3963014	75446576	14908177	1168	56711											
CHST6	4166	broad.mit.edu	37	chr16	75513137	75513137	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgcgcaccaggtgcacgAtgcgtaggttgagcgcgggg	19	10	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:75513137A>G	uc002fef.2	-	3	770	c.590T>C	c.(589-591)ATC>ACC	p.I197T	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.I197T	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	197	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						CAGGTGCACGATGCGTAGGTT	0.687													G	75513137	A	G	75513137	3	3	84	1	0	0	0	0	1	0	0	0	3408	333	12	3	601	3	CHST6	16	75513137	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	66561	75513137	14841616	1169	56712											
CHST5	23563	broad.mit.edu	37	chr16	75563650	75563650	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggttgagcgcggggtcGctgagcagcgggtagagcac	19	10	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:75563650G>A	uc002fei.2	-	3	2028	c.633C>T	c.(631-633)AGC>AGT	p.S211S	CHST5_uc002fej.1_Silent_p.S217S	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	211	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GCGCGGGGTCGCTGAGCAGCG	0.706													A	75563650	G	A	75563650	2	1	84	1	0	0	0	0	0	0	0	1	3407	1078	38	1		1	CHST5	16	75563650	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	50513	75563650	14791103	1170	56713											
CHST5	23563	broad.mit.edu	37	chr16	75564048	75564048	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggctgaagagctggcCcaagaaggatgagcccgagc	16	10	0	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:75564048C>A	uc002fei.2	-	3	1630	c.235G>T	c.(235-237)GGC>TGC	p.G79C	CHST5_uc002fej.1_Missense_Mutation_p.G85C	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	79	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						AAGAGCTGGCCCAAGAAGGAT	0.667													A	75564048	C	A	75564048	3	1	84	1	0	0	0	0	1	0	0	0	3407	623	22	5	1004	5	CHST5	16	75564048	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	398	75564048	14790705	1171	56714											
MON1B	22879	broad.mit.edu	37	chr16	77227598	77227598	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagtgtggaggcgctgtcGgctaccatgggtgtaatgac	17	7	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:77227598G>A	uc002fez.2	+	3	729	c.399G>A	c.(397-399)TCG>TCA	p.S133S	MON1B_uc010vnf.1_Intron|MON1B_uc010vng.1_Intron|MON1B_uc002ffa.2_5'Flank	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	MON1 homolog B	133							protein binding				0						AGGCGCTGTCGGCTACCATGG	0.597													A	77227598	G	A	77227598	2	1	84	1	0	0	0	0	0	0	0	1	9699	1103	39	1		1	MON1B	16	77227598	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1663550	77227598	13127155	1172	56715											
ADAMTS18	170692	broad.mit.edu	37	chr16	77328874	77328875	+	Frame_Shift_Ins	INS	-	-	T													aggcatggctgttgcaggctINStggacctgagtgggtgtgct					rs141256982		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:77328873_77328874C>CT	uc002ffc.4	-	18	3371_3372	c.2952_2953G>AG	c.(2950-2955)caagccfs	p.Q984fs	ADAMTS18_uc010chc.1_Frame_Shift_Ins_p.Q572fs	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	984	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTGTTGCAGGCTTGGACCTGAG	0.535													T	77328875	-	T	77328874	7	5	84	1	0	1	1	0	0	0	0	0	263	1606	56	0	733	0	ADAMTS18	16	77328874	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	101276	77328874	13025879	1173	56716											
PKD1L2	114780	broad.mit.edu	37	chr16	81181847	81181847	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttccagtgttctgctccttCgcgacccggggacgggtgtt	13	12	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:81181847C>T	uc002fgh.1	-	29	4869	c.4869G>A	c.(4867-4869)GCG>GCA	p.A1623A	PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1623	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TCTGCTCCTTCGCGACCCGGG	0.597													T	81181847	C	T	81181847	2	4	84	1	0	0	0	0	0	0	0	1	11965	871	31	1		1	PKD1L2	16	81181847	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	3852973	81181847	9172906	1174	56717											
GAN	8139	broad.mit.edu	37	chr16	81388112	81388112	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgagtttttggaaggctgcAttgctgctgagaactgtatt	13	5	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:81388112A>G	uc002fgo.2	+	3	533	c.385A>G	c.(385-387)ATT>GTT	p.I129V		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	gigaxonin	129					cell death	cytoplasm|neurofilament	protein binding			ovary(2)	2		Colorectal(91;0.153)				GGAAGGCTGCATTGCTGCTGA	0.468													G	81388112	A	G	81388112	3	3	84	1	0	0	0	0	1	0	0	0	6232	217	8	3	395	3	GAN	16	81388112	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	206265	81388112	8966641	1175	56718											
MPHOSPH6	10200	broad.mit.edu	37	chr16	82182417	82182417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcttcataattggcatgGtctctctttctggcaaactt	6	10	6	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:82182417G>A	uc002fgw.2	-	5	451	c.402C>T	c.(400-402)GAC>GAT	p.D134D		NM_005792	NP_005783	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	134					M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding				0						AATTGGCATGGTCTCTCTTTC	0.398													A	82182417	G	A	82182417	2	1	84	1	0	0	0	0	0	0	0	1	9726	1252	44	4		4	MPHOSPH6	16	82182417	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	794305	82182417	8172336	1176	56719											
MBTPS1	8720	broad.mit.edu	37	chr16	84125452	84125452	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccaagatgtgtaagatAcctagttaaatattataaca	5	5	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:84125452A>G	uc002fhi.2	-	7	1350	c.848T>C	c.(847-849)GTA>GCA	p.V283A		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	283	Serine protease.|Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2						TGTGTAAGATACCTAGTTAAA	0.363													G	84125452	A	G	84125452	3	3	84	1	0	0	0	0	1	0	0	0	9361	405	14	3	2378	3	MBTPS1	16	84125452	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1943035	84125452	6229301	1177	56720											
ADAD2	161931	broad.mit.edu	37	chr16	84224937	84224937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagccccgcccctggcgacCgctacccgcccaggcccaaa	9	23	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:84224937C>T	uc002fhr.2	+	1	215	c.101C>T	c.(100-102)CCG>CTG	p.P34L	ADAD2_uc002fhq.2_Missense_Mutation_p.P34L	NM_001145400	NP_001138872	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2 isoform	34					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding				0						CCCTGGCGACCGCTACCCGCC	0.612													T	84224937	C	T	84224937	3	4	84	1	0	0	0	0	1	0	0	0	232	652	23	1	103	1	ADAD2	16	84224937	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	99485	84224937	6129816	1178	56721											
KLHL36	79786	broad.mit.edu	37	chr16	84695477	84695477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaccagtggacccgcgtggCgccgctgctgcacgccaaca	12	17	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:84695477C>T	uc002fig.2	+	5	1730	c.1589C>T	c.(1588-1590)GCG>GTG	p.A530V	KLHL36_uc010chl.2_Missense_Mutation_p.A466V|uc002fih.2_5'Flank	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	kelch-like 36	530	Kelch 5.									skin(2)	2						ACCCGCGTGGCGCCGCTGCTG	0.662													T	84695477	C	T	84695477	3	4	84	1	0	0	0	0	1	0	0	0	8389	768	27	1	1603	1	KLHL36	16	84695477	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	470540	84695477	5659276	1179	56722											
FOXF1	2294	broad.mit.edu	37	chr16	86544482	86544482	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgccacaacctctcgctcAacgagtgcttcatcaagcta	7	15	4	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:86544482A>G	uc002fjl.2	+	1	350	c.307A>G	c.(307-309)AAC>GAC	p.N103D	uc002fjk.1_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	103	Fork-head.				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0						CCTCTCGCTCAACGAGTGCTT	0.632													G	86544482	A	G	86544482	3	3	84	1	0	0	0	0	1	0	0	0	6005	130	5	3	309	3	FOXF1	16	86544482	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1849005	86544482	3810271	1180	56723											
KLHDC4	54758	broad.mit.edu	37	chr16	87744970	87744970	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaacagtgtctggtgattCggggccatggccacggaaaa	14	8	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:87744970C>T	uc002fki.2	-	9	961	c.915G>A	c.(913-915)CCG>CCA	p.P305P	KLHDC4_uc002fkh.1_5'Flank|KLHDC4_uc010cht.1_Silent_p.P124P|KLHDC4_uc002fkj.2_Silent_p.P274P|KLHDC4_uc002fkk.2_Silent_p.P124P|KLHDC4_uc002fkl.2_Silent_p.P248P|KLHDC4_uc010chu.1_Silent_p.P124P	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	305										pancreas(2)	2				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TCTGGTGATTCGGGGCCATGG	0.567													T	87744970	C	T	87744970	2	4	84	1	0	0	0	0	0	0	0	1	8358	871	31	1		1	KLHDC4	16	87744970	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1200488	87744970	2609783	1181	56724											
CYBA	1535	broad.mit.edu	37	chr16	88713177	88713177	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcacaggagatgcaggacGgcccgaacatagtaattcct	10	11	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:88713177G>A	uc002flb.2	-	4	309	c.273C>T	c.(271-273)GCC>GCT	p.A91A	CYBA_uc002flc.1_5'Flank|CYBA_uc002fld.1_Silent_p.A91A|CYBA_uc010chx.1_Silent_p.A91A	NM_000101	NP_000092	P13498	CY24A_HUMAN	cytochrome b, alpha polypeptide	91					cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport	NADPH oxidase complex|stored secretory granule	electron carrier activity|heme binding|protein heterodimerization activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GATGCAGGACGGCCCGAACAT	0.667													A	88713177	G	A	88713177	2	1	84	1	0	0	0	0	0	0	0	1	4131	1103	39	1		1	CYBA	16	88713177	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	968207	88713177	1641576	1182	56725											
CTU2	348180	broad.mit.edu	37	chr16	88779164	88779164	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgggggtggtcctggcccGactcaaggggaggaacagcc	18	12	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:88779164G>A	uc002flm.2	+	7	636	c.588G>A	c.(586-588)CCG>CCA	p.P196P	CTU2_uc002fln.2_Silent_p.P196P|CTU2_uc010chz.2_Silent_p.P267P|CTU2_uc010cia.2_Silent_p.P109P	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	cytoplasmic tRNA 2-thiolation protein 2 isoform	196					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			skin(1)	1						GTCCTGGCCCGACTCAAGGGG	0.687													A	88779164	G	A	88779164	2	1	84	1	0	0	0	0	0	0	0	1	4048	1045	37	1		1	CTU2	16	88779164	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	65987	88779164	1575589	1183	56726											
ACSF3	197322	broad.mit.edu	37	chr16	89169058	89169058	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggaccaaagacgacgtgaTcctccacgtgctcccgctgc	10	15	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:89169058T>C	uc002fmp.2	+	4	1053	c.713T>C	c.(712-714)ATC>ACC	p.I238T	ACSF3_uc010cig.1_Missense_Mutation_p.I238T|ACSF3_uc010cih.1_5'UTR|ACSF3_uc002fmq.1_RNA|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_5'UTR	NM_174917	NP_777577	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3 precursor	238					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GACGACGTGATCCTCCACGTG	0.617													C	89169058	T	C	89169058	3	2	84	1	0	0	0	0	1	0	0	0	176	1435	50	3	719	3	ACSF3	16	89169058	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	389894	89169058	1185695	1184	56727											
ZNF778	197320	broad.mit.edu	37	chr16	89293297	89293297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagcagttttccgtgttgGgtcagtgtggaaaagccttc	14	7	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:89293297G>A	uc002fmv.2	+	6	856	c.517G>A	c.(517-519)GGT>AGT	p.G173S	ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Missense_Mutation_p.G131S|ZNF778_uc010vpg.1_5'UTR	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TTCCGTGTTGGGTCAGTGTGG	0.438													A	89293297	G	A	89293297	3	1	84	1	0	0	0	0	1	0	0	0	18148	1232	43	4	535	4	ZNF778	16	89293297	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	124239	89293297	1061456	1185	56728											
SPG7	6687	broad.mit.edu	37	chr16	89590439	89590439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagacgccgtgagcgggaCgaccagatgtaccgagagcg	17	10	0	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:89590439C>T	uc002fnj.2	+	4	423	c.402C>T	c.(400-402)GAC>GAT	p.D134D	SPG7_uc002fni.2_Silent_p.D134D	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	134	Mitochondrial matrix (Potential).				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GTGAGCGGGACGACCAGATGT	0.587													T	89590439	C	T	89590439	2	4	84	1	0	0	0	0	0	0	0	1	15043	535	19	1		1	SPG7	16	89590439	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	297142	89590439	764314	1186	56729											
CDK10	8558	broad.mit.edu	37	chr16	89758245	89758245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatgggttactgtgagcagGacctggccagcctcctggag	15	10	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:89758245G>A	uc010cio.2	+	5	410	c.367G>A	c.(367-369)GAC>AAC	p.D123N	CDK10_uc002foa.2_Missense_Mutation_p.D117N|CDK10_uc010cip.2_Missense_Mutation_p.D52N|CDK10_uc010vpl.1_Missense_Mutation_p.D117N|CDK10_uc002fob.2_Missense_Mutation_p.D52N|CDK10_uc002fod.2_Missense_Mutation_p.D52N|CDK10_uc002foe.2_Missense_Mutation_p.D52N|CDK10_uc002fof.2_Missense_Mutation_p.D52N|CDK10_uc002fog.3_Missense_Mutation_p.D52N|CDK10_uc002foh.3_Missense_Mutation_p.D52N	NM_052988	NP_443714	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10 isoform a	123	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		CTGTGAGCAGGACCTGGCCAG	0.607													A	89758245	G	A	89758245	3	1	84	1	0	0	0	0	1	0	0	0	3125	1174	41	4	385	4	CDK10	16	89758245	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	167806	89758245	596508	1187	56730											
FANCA	2175	broad.mit.edu	37	chr16	89871719	89871719	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccctggcgacgtcagcatgCtggcaggatgcttccatctg	13	13	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:89871719C>A	uc002fou.1	-	7	720	c.678G>T	c.(676-678)CAG>CAT	p.Q226H	FANCA_uc010vpn.1_Missense_Mutation_p.Q226H|FANCA_uc002fov.1_Missense_Mutation_p.Q209H|FANCA_uc002fow.1_Missense_Mutation_p.Q226H|FANCA_uc002fox.1_Missense_Mutation_p.Q226H|FANCA_uc010ciu.1_Missense_Mutation_p.Q194H|FANCA_uc002foy.2_Missense_Mutation_p.Q226H	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	226					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CGTCAGCATGCTGGCAGGATG	0.522			D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				A	89871719	C	A	89871719	3	1	84	1	0	0	0	0	1	0	0	0	5662	796	28	5	3842	5	FANCA	16	89871719	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	113474	89871719	483034	1188	56731											
VPS53	55275	broad.mit.edu	37	chr17	534828	534828	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacgcttcttcaaaatctgCcaggatttgctgtcctaact	6	11	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:534828C>A	uc002frn.2	-	8	796	c.649G>T	c.(649-651)GCA>TCA	p.A217S	VPS53_uc002frk.2_5'UTR|VPS53_uc010cjo.1_Missense_Mutation_p.A217S|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.A188S|VPS53_uc002fro.2_Missense_Mutation_p.A19S|VPS53_uc010cjp.1_Intron	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 isoform 2	217					protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TCAAAATCTGCCAGGATTTGC	0.488													A	534828	C	A	534828	3	1	84	1	0	0	0	0	1	0	0	0	17212	739	26	5	1924	5	VPS53	17	534828	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08		534828	80660382	1189	56732											
INPP5K	51763	broad.mit.edu	37	chr17	1401243	1401243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcacctccaagtcgaacGtgccggagacaggcttgtgg	13	11	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:1401243G>A	uc002fsr.2	-	8	1339	c.950C>T	c.(949-951)ACG>ATG	p.T317M	INPP5K_uc002fss.2_Missense_Mutation_p.T241M|INPP5K_uc002fsq.2_Missense_Mutation_p.T241M|INPP5K_uc010cjr.2_Missense_Mutation_p.T241M|INPP5K_uc010vql.1_Missense_Mutation_p.T225M|INPP5K_uc010vqm.1_Missense_Mutation_p.T221M	NM_016532	NP_057616	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K isoform	317	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding				0						CAAGTCGAACGTGCCGGAGAC	0.577													A	1401243	G	A	1401243	3	1	84	1	0	0	0	0	1	0	0	0	7760	1145	40	1	416	1	INPP5K	17	1401243	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	866415	1401243	79793967	1190	56733											
INPP5K	51763	broad.mit.edu	37	chr17	1417245	1417245	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctagagggggcgctgccgAagccacgttccaagtcacga	13	12	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:1417245A>G	uc002fsr.2	-	2	462	c.73T>C	c.(73-75)TCG>CCG	p.S25P	INPP5K_uc002fss.2_5'UTR|INPP5K_uc002fsq.2_5'UTR|INPP5K_uc010cjr.2_5'UTR|INPP5K_uc010vql.1_Intron|INPP5K_uc010vqm.1_Missense_Mutation_p.S25P|INPP5K_uc010cjs.2_Missense_Mutation_p.S25P	NM_016532	NP_057616	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K isoform	25	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding				0						GGCGCTGCCGAAGCCACGTTC	0.498													G	1417245	A	G	1417245	3	3	84	1	0	0	0	0	1	0	0	0	7760	246	9	3	1317	3	INPP5K	17	1417245	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	16002	1417245	79777965	1191	56734											
SMYD4	114826	broad.mit.edu	37	chr17	1690197	1690197	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgacaagctggacaggcGcagtcaaagaaatactgaga	12	7	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:1690197G>A	uc002ftm.3	-	7	1959	c.1791C>T	c.(1789-1791)TGC>TGT	p.C597C	SMYD4_uc002ftn.1_Silent_p.C452C	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	597							zinc ion binding			skin(3)|kidney(2)	5						CTGGACAGGCGCAGTCAAAGA	0.567													A	1690197	G	A	1690197	2	1	84	1	0	0	0	0	0	0	0	1	14824	1079	38	1		1	SMYD4	17	1690197	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	272952	1690197	79505013	1192	56735											
SRR	63826	broad.mit.edu	37	chr17	2226566	2226566	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatggtgtcaaatccagcaTtggcttgaacacctggccta	10	10	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:2226566T>C	uc002fue.1	+	7	799	c.731T>C	c.(730-732)ATT>ACT	p.I244T	SRR_uc002fui.1_Missense_Mutation_p.I95T|TSR1_uc002fuj.2_3'UTR	NM_021947	NP_068766	Q9GZT4	SRR_HUMAN	serine racemase	244					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity				0		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AAATCCAGCATTGGCTTGAAC	0.458													C	2226566	T	C	2226566	3	2	84	1	0	0	0	0	1	0	0	0	15165	1493	52	3	753	3	SRR	17	2226566	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	536369	2226566	78968644	1193	56736											
PAFAH1B1	5048	broad.mit.edu	37	chr17	2570398	2570398	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccccgtccgccagaaaaatAtgcattgagtggtcacagga	10	11	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:2570398A>G	uc002fuw.3	+	5	873	c.305A>G	c.(304-306)TAT>TGT	p.Y102C	PAFAH1B1_uc010ckb.1_RNA	NM_000430	NP_000421	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase,	102	Interaction with NDEL1 (By similarity).|Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			skin(1)	1						CCAGAAAAATATGCATTGAGT	0.433													G	2570398	A	G	2570398	3	3	84	1	0	0	0	0	1	0	0	0	11384	449	16	3	319	3	PAFAH1B1	17	2570398	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	343832	2570398	78624812	1194	56737											
SHPK	23729	broad.mit.edu	37	chr17	3518749	3518749	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatgggaagtaggcgactggGgccgtagggtctggagtctg	19	6	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:3518749G>T	uc002fvz.1	-	6	1009	c.906C>A	c.(904-906)GCC>GCA	p.A302A		NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN	carbohydrate kinase-like	302					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			ovary(1)	1				COAD - Colon adenocarcinoma(5;0.0828)		AGGCGACTGGGGCCGTAGGGT	0.607													T	3518749	G	T	3518749	2	4	84	1	0	0	0	0	0	0	0	1	14290	1219	43	5		5	SHPK	17	3518749	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	948351	3518749	77676461	1195	56738											
C17orf85	55421	broad.mit.edu	37	chr17	3721788	3721790	+	In_Frame_Del	DEL	TCT	TCT	-													catctgcatccatgtcctggTcttcttcttcctcttcctct							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:3721787_3721789GTCT>G	uc010ckl.1	-	9	1101_1103	c.1078_1080AGAC>C	c.(1078-1080)gac>C	p.D360del	C17orf85_uc002fwr.2_In_Frame_Del_p.D70del|C17orf85_uc002fwq.2_In_Frame_Del_p.D80del	NM_001114118	NP_061023	Q53F19	CQ085_HUMAN	Homo sapiens chromosome 17 open reading frame 85 (C17orf85), mRNA.	360	Glu-rich.						nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		CCATGTCCTGGtcttcttcttcc	0.547													-	3721790	TCT	-	3721788	7	5	84	1	0	1	0	1	0	0	0	0	1888	1667	58	0	799	0	C17orf85	17	3721788	In_Frame_Del	DEL	TCT	TCGA-BR-8372-01A-11D-2340-08	203039	3721788	77473422	1196	56739											
ZZEF1	23140	broad.mit.edu	37	chr17	4009068	4009069	+	Frame_Shift_Ins	INS	-	-	GA													gaaatctgtagatcctggtgINSagagagagagtggaggcatg					rs76562422	by1000genomes	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:4009067_4009068T>TGA	uc002fxe.3	-	6	1377_1378	c.1313_1314A>TCA	c.(1312-1314)tcafs	p.S438fs	ZZEF1_uc002fxk.1_Frame_Shift_Ins_p.S438fs	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	438							calcium ion binding|zinc ion binding	p.S438T(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TAGATCCTGGTGAGAGAGAGAG	0.421													GA	4009069	-	GA	4009068	7	5	84	1	0	1	1	0	0	0	0	0	18252	1294	45	0	7768	0	ZZEF1	17	4009068	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	287280	4009068	77186142	1197	56740											
ANKFY1	51479	broad.mit.edu	37	chr17	4077240	4077240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccacggcagcaaagtccaCgccattctctaggaggactg	10	13	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:4077240C>T	uc002fxq.1	-	20	2925	c.2887G>A	c.(2887-2889)GTG>ATG	p.V963M	ANKFY1_uc002fxn.2_Missense_Mutation_p.V1005M|ANKFY1_uc002fxo.2_Missense_Mutation_p.V964M|ANKFY1_uc002fxp.2_Missense_Mutation_p.V962M|ANKFY1_uc010ckp.2_Missense_Mutation_p.V905M	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	963	ANK 18.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						GCAAAGTCCACGCCATTCTCT	0.537													T	4077240	C	T	4077240	3	4	84	1	0	0	0	0	1	0	0	0	626	536	19	1	646	1	ANKFY1	17	4077240	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	68172	4077240	77117970	1198	56741											
VMO1	284013	broad.mit.edu	37	chr17	4689578	4689578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttccggccatctgtctgtgCacatgtgaaaccagtcgccc	10	14	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:4689578C>T	uc002fyx.2	-	1	152	c.70G>A	c.(70-72)GCA>ACA	p.A24T	VMO1_uc010vsh.1_Missense_Mutation_p.A24T|VMO1_uc010vsi.1_Missense_Mutation_p.A24T|VMO1_uc002fyy.2_Missense_Mutation_p.A24T|GLTPD2_uc002fza.1_5'Flank	NM_182566	NP_872372	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 isoform 1	24					vitelline membrane formation	extracellular region				ovary(1)	1						TCTGTCTGTGCACATGTGAAA	0.547													T	4689578	C	T	4689578	3	4	84	1	0	0	0	0	1	0	0	0	17174	710	25	2	584	2	VMO1	17	4689578	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	612338	4689578	76505632	1199	56742											
CHRNE	1145	broad.mit.edu	37	chr17	4804134	4804134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctctgggattttctgggCaatgaggaacaagaagacgg	14	6	2	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:4804134C>T	uc002fzk.1	-	8	882	c.871G>A	c.(871-873)GCC>ACC	p.A291T	C17orf107_uc002fzl.3_3'UTR	NM_000080	NP_000071	Q04844	ACHE_HUMAN	nicotinic acetylcholine receptor epsilon	291	Helical; (Potential).				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						ATTTTCTGGGCAATGAGGAAC	0.667													T	4804134	C	T	4804134	3	4	84	1	0	0	0	0	1	0	0	0	3395	710	25	2	630	2	CHRNE	17	4804134	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	114556	4804134	76391076	1200	56743											
ENO3	2027	broad.mit.edu	37	chr17	4860186	4860186	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatacaaccaactcatgaggTacagcgggaacagtgggcct	11	10	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:4860186T>A	uc002gab.3	+	11	1329	c.1235_splice	c.e11+2	p.R412_splice	ENO3_uc002gac.3_Splice_Site_p.R412_splice|ENO3_uc010vss.1_Splice_Site_p.R369_splice|ENO3_uc010vst.1_Splice_Site_p.R239_splice	NM_053013	NP_443739	P13929	ENOB_HUMAN	enolase 3						gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			ovary(1)	1						ACTCATGAGGTACAGCGGGAA	0.572											OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	4860186	T	A	4860186	5	1	84	1	0	0	0	0	0	0	1	0	5123	1652	57	5	1275	5	ENO3	17	4860186	Splice_Site	SNP	T	TCGA-BR-8372-01A-11D-2340-08	56052	4860186	76335024	1201	56744											
RABEP1	9135	broad.mit.edu	37	chr17	5238641	5238641	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaatgaaatgaaaaaggTatgaaggaatgtgttcattt	10	1	1	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:5238641T>C	uc002gbm.3	+	4	752	c.528_splice	c.e4+2	p.K176_splice	RABEP1_uc010clc.1_Splice_Site_p.K176_splice|RABEP1_uc010cld.1_Splice_Site_p.K133_splice|RABEP1_uc010vsw.1_Splice_Site_p.K133_splice|RABEP1_uc002gbl.3_Splice_Site_p.K176_splice|RABEP1_uc002gbj.2_Splice_Site_p.K176_splice|RABEP1_uc002gbk.2_Splice_Site_p.K176_splice	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1						apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2						ATGAAAAAGGTATGAAGGAAT	0.318													C	5238641	T	C	5238641	5	2	84	1	0	0	0	0	0	0	1	0	12961	1652	57	3	544	3	RABEP1	17	5238641	Splice_Site	SNP	T	TCGA-BR-8372-01A-11D-2340-08	378455	5238641	75956569	1202	56745											
PITPNM3	83394	broad.mit.edu	37	chr17	6377844	6377844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggacacatcgaagtcaaagCggcccaggctgacctcaggg	13	13	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:6377844C>T	uc002gdd.3	-	10	1317	c.1166G>A	c.(1165-1167)CGC>CAC	p.R389H	PITPNM3_uc010cln.2_Missense_Mutation_p.R353H|PITPNM3_uc010clm.2_5'Flank|PITPNM3_uc002gdc.3_5'UTR	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	389					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GAAGTCAAAGCGGCCCAGGCT	0.667													T	6377844	C	T	6377844	3	4	84	1	0	0	0	0	1	0	0	0	11952	768	27	1	1802	1	PITPNM3	17	6377844	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1139203	6377844	74817366	1203	56746											
NEURL4	84461	broad.mit.edu	37	chr17	7229602	7229602	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catccagactgaattcgcagTactcccggcgggtgcccttg	11	14	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:7229602T>C	uc002gga.1	-	6	1272	c.1265A>G	c.(1264-1266)TAC>TGC	p.Y422C	NEURL4_uc002ggb.1_Missense_Mutation_p.Y422C|NEURL4_uc002ggc.1_5'UTR	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	422	NHR 2.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						GAATTCGCAGTACTCCCGGCG	0.607													C	7229602	T	C	7229602	3	2	84	1	0	0	0	0	1	0	0	0	10347	1638	57	3	3519	3	NEURL4	17	7229602	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	851758	7229602	73965608	1204	56747											
NEURL4	84461	broad.mit.edu	37	chr17	7230237	7230237	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaggccttcccctgccggTggggagctcaggttcacatt	12	15	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:7230237T>C	uc002gga.1	-	4	892	c.885A>G	c.(883-885)CCA>CCG	p.P295P	NEURL4_uc002ggb.1_Silent_p.P295P|NEURL4_uc002ggc.1_5'Flank	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	295							protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						CCCCTGCCGGTGGGGAGCTCA	0.567													C	7230237	T	C	7230237	2	2	84	1	0	0	0	0	0	0	0	1	10347	1683	59	3		3	NEURL4	17	7230237	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	635	7230237	73964973	1205	56748											
CHRNB1	1140	broad.mit.edu	37	chr17	7350229	7350229	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcatcacggcggaatcCgtgtggctccctgacgtggt	13	14	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:7350229C>T	uc002ghb.2	+	4	362	c.321C>T	c.(319-321)TCC>TCT	p.S107S	CHRNB1_uc010vty.1_Silent_p.S35S|CHRNB1_uc010vtz.1_5'UTR	NM_000747	NP_000738	P11230	ACHB_HUMAN	nicotinic acetylcholine receptor beta 1 subunit	107	Extracellular (Potential).				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			ovary(2)	2		Prostate(122;0.157)				CGGCGGAATCCGTGTGGCTCC	0.488													T	7350229	C	T	7350229	2	4	84	1	0	0	0	0	0	0	0	1	3390	639	23	1		1	CHRNB1	17	7350229	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	119992	7350229	73844981	1206	56749											
EFNB3	1949	broad.mit.edu	37	chr17	7612568	7612568	+	Frame_Shift_Del	DEL	G	G	-													ctgcagtggctggggcagcaGgggggctggcgctgctcttg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:7612568delG	uc002gis.2	+	5	1094	c.697delG	c.(697-699)GGGfs	p.G233fs		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	ephrin-B3 precursor	233	Helical; (Potential).				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			ovary(1)	1		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGGGGCAGCAGGGGGGCTGGC	0.716													-	7612568	G	-	7612568	7	5	84	1	0	1	0	1	0	0	0	0	4957	1000	35	0	715	0	EFNB3	17	7612568	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	262339	7612568	73582642	1207	56750											
ALOX12B	242	broad.mit.edu	37	chr17	7978948	7978948	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaggcactctttaaatAtttcctgcacccaagactgc	7	13	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:7978948A>G	uc002gjy.1	-	12	1880	c.1619T>C	c.(1618-1620)ATA>ACA	p.I540T		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	540	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0						CTCTTTAAATATTTCCTGCAC	0.592										Multiple Myeloma(8;0.094)			G	7978948	A	G	7978948	3	3	84	1	0	0	0	0	1	0	0	0	537	449	16	3	502	3	ALOX12B	17	7978948	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	366380	7978948	73216262	1208	56751											
PIK3R5	23533	broad.mit.edu	37	chr17	8791599	8791599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccactcaggaaggggcggCggcgctgggggcgtgaagca	19	11	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:8791599C>T	uc002glt.2	-	10	1572	c.1505G>A	c.(1504-1506)CGC>CAC	p.R502H	PIK3R5_uc010vuz.1_Missense_Mutation_p.R502H|PIK3R5_uc002glu.3_Missense_Mutation_p.R116H|PIK3R5_uc010coa.1_3'UTR|PIK3R5_uc010cob.1_Missense_Mutation_p.R116H	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	502					platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						GAAGGGGCGGCGGCGCTGGGG	0.677													T	8791599	C	T	8791599	3	4	84	1	0	0	0	0	1	0	0	0	11922	768	27	1	1177	1	PIK3R5	17	8791599	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	812651	8791599	72403611	1209	56752											
MYH2	4620	broad.mit.edu	37	chr17	10426662	10426662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactcgcctctcatgtttgCgcagacctttgacagcctca	7	15	3	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:10426662C>T	uc010coi.2	-	38	5668	c.5540G>A	c.(5539-5541)CGC>CAC	p.R1847H	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1847H|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1847	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						CTCATGTTTGCGCAGACCTTT	0.463													T	10426662	C	T	10426662	3	4	84	1	0	0	0	0	1	0	0	0	10035	768	27	1	297	1	MYH2	17	10426662	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1635063	10426662	70768548	1210	56753											
MYH3	4621	broad.mit.edu	37	chr17	10535191	10535191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcctgttccgccagtttcCgggccctctccgtctgctcc	9	19	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:10535191C>T	uc002gmq.1	-	34	5176	c.5099G>A	c.(5098-5100)CGG>CAG	p.R1700Q		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1700	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						CGCCAGTTTCCGGGCCCTCTC	0.647													T	10535191	C	T	10535191	3	4	84	1	0	0	0	0	1	0	0	0	10036	652	23	1	751	1	MYH3	17	10535191	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	108529	10535191	70660019	1211	56754											
MPRIP	23164	broad.mit.edu	37	chr17	17057685	17057685	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcggaactggatccagacCatcatgaagcacgtgcaccc	11	14	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:17057685C>A	uc002gqu.1	+	13	1487	c.1431C>A	c.(1429-1431)ACC>ACA	p.T477T	MPRIP_uc002gqv.1_Silent_p.T477T|MPRIP_uc002gqw.1_Silent_p.T232T	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	477	PH 2.					cytoplasm|cytoskeleton	actin binding				0						GGATCCAGACCATCATGAAGC	0.572													A	17057685	C	A	17057685	2	1	84	1	0	0	0	0	0	0	0	1	9743	581	21	5		5	MPRIP	17	17057685	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	6522494	17057685	64137525	1212	56755											
RAI1	10743	broad.mit.edu	37	chr17	17700156	17700156	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccacccccggagaccccCgatgcctgcctcaagctcgc	8	22	1	1	rs139432822	by1000genomes	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:17700156C>T	uc002grm.2	+	3	4363	c.3894C>T	c.(3892-3894)CCC>CCT	p.P1298P	RAI1_uc002grn.1_Silent_p.P1298P	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1298						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CGGAGACCCCCGATGCCTGCC	0.652													T	17700156	C	T	17700156	2	4	84	1	0	0	0	0	0	0	0	1	13007	639	23	1		1	RAI1	17	17700156	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	642471	17700156	63495054	1213	56756											
SREBF1	6720	broad.mit.edu	37	chr17	17720439	17720439	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcagcagccactgggcccAgccagggccatctatggaca	14	14	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:17720439A>G	uc002gru.1	-	9	1812	c.1618T>C	c.(1618-1620)TGG>CGG	p.W540R	SREBF1_uc002grp.1_Missense_Mutation_p.W159R|SREBF1_uc002grq.1_Missense_Mutation_p.W59R|SREBF1_uc002grr.1_Missense_Mutation_p.W286R|SREBF1_uc002grs.1_Missense_Mutation_p.W516R|SREBF1_uc002grt.1_Missense_Mutation_p.W570R	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	540	Lumenal (Potential).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						CACTGGGCCCAGCCAGGGCCA	0.617													G	17720439	A	G	17720439	3	3	84	1	0	0	0	0	1	0	0	0	15140	188	7	3	1869	3	SREBF1	17	17720439	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	20283	17720439	63474771	1214	56757											
DRG2	1819	broad.mit.edu	37	chr17	17997175	17997175	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctaagctcgccaagtatcGggcccagctcctggaaccgt	11	14	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:17997175G>T	uc002gsh.1	+	2	168	c.113G>T	c.(112-114)CGG>CTG	p.R38L	DRG2_uc010vxg.1_Missense_Mutation_p.R38L|DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.R38L	NM_001388	NP_001379	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	38					signal transduction		GTP binding			ovary(1)	1	all_neural(463;0.228)					GCCAAGTATCGGGCCCAGCTC	0.557													T	17997175	G	T	17997175	3	4	84	1	0	0	0	0	1	0	0	0	4762	1116	39	5	119	5	DRG2	17	17997175	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	276736	17997175	63198035	1215	56758											
MYO15A	51168	broad.mit.edu	37	chr17	18071031	18071031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggaccacttctacctgcCgagcgtgtgagcatctgccc	10	15	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:18071031C>T	uc010vxh.1	+	61	10414	c.10076C>T	c.(10075-10077)CCG>CTG	p.P3359L	MYO15A_uc010vxi.1_Missense_Mutation_p.P623L|MYO15A_uc010vxk.1_Missense_Mutation_p.P52L|MYO15A_uc010vxl.1_Missense_Mutation_p.P348L|MYO15A_uc002gsl.2_Missense_Mutation_p.P366L|MYO15A_uc010vxm.1_Intron|MYO15A_uc010cpv.2_RNA	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	3359	Tail.|FERM.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					TTCTACCTGCCGAGCGTGTGA	0.667													T	18071031	C	T	18071031	3	4	84	1	0	0	0	0	1	0	0	0	10063	652	23	1	10314	1	MYO15A	17	18071031	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	73856	18071031	63124179	1216	56759											
CCDC144B	284047	broad.mit.edu	37	chr17	18483747	18483747	+	RNA	DEL	T	T	-													ttcctcatttagttttataaTtttttgaaggttatcattct							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:18483747delT	uc002gua.3	-	12		c.2679delA								Homo sapiens cDNA FLJ36492 fis, clone THYMU2018455.											ovary(1)|skin(1)	2						AGTTTTATAATTTTTTGAAGG	0.313													-	18483747	T	-	18483747	6	5	84	0	1	1	0	1	0	0	0	0	2778	1508	52	0		0	CCDC144B	17	18483747	RNA	DEL	T	TCGA-BR-8372-01A-11D-2340-08	412716	18483747	62711463	1217	56760											
FAM83G	644815	broad.mit.edu	37	chr17	18874698	18874698	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctttgcggtcccggggggCttgagccctccgtttagaat	14	11	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:18874698C>A	uc002guw.2	-	6	2613	c.2446G>T	c.(2446-2448)GCC>TCC	p.A816S	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	816										ovary(1)|central_nervous_system(1)	2						TCCCGGGGGGCTTGAGCCCTC	0.627													A	18874698	C	A	18874698	3	1	84	1	0	0	0	0	1	0	0	0	5639	797	28	5	29	5	FAM83G	17	18874698	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	390951	18874698	62320512	1218	56761											
SLC5A10	125206	broad.mit.edu	37	chr17	18918512	18918512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctcctgctggtgggacGgtacgggggtgggggccagt	22	8	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:18918512G>A	uc002guu.1	+	11	1282	c.1241G>A	c.(1240-1242)CGG>CAG	p.R414Q	SLC5A10_uc002gur.1_Missense_Mutation_p.R347H|SLC5A10_uc002gut.1_Missense_Mutation_p.R430Q|SLC5A10_uc002guv.1_Missense_Mutation_p.R387Q|SLC5A10_uc010vyl.1_Missense_Mutation_p.R378Q|SLC5A10_uc002gux.1_5'Flank	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/glucose	414	Helical; (Potential).				sodium ion transport|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1						CTGGTGGGACGGTACGGGGGT	0.642													A	18918512	G	A	18918512	3	1	84	1	0	0	0	0	1	0	0	0	14662	1130	39	1	1331	1	SLC5A10	17	18918512	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	43814	18918512	62276698	1219	56762											
SLC47A2	146802	broad.mit.edu	37	chr17	19618513	19618513	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acgatgtagatcataaaagtCagcacctggaacaggaactg	10	8	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:19618513C>T	uc002gwe.3	-	2	316	c.141G>A	c.(139-141)CTG>CTA	p.L47L	SLC47A2_uc002gwg.3_Silent_p.L47L|SLC47A2_uc002gwf.3_Silent_p.L47L|SLC47A2_uc002gwh.3_RNA|SLC47A2_uc002gwi.2_RNA|SLC47A2_uc010cqs.1_RNA|SLC47A2_uc010cqt.1_5'Flank	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	solute carrier family 47, member 2 isoform 1	47	Helical; (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					TCATAAAAGTCAGCACCTGGA	0.617													T	19618513	C	T	19618513	2	4	84	1	0	0	0	0	0	0	0	1	14648	813	29	4		4	SLC47A2	17	19618513	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	700001	19618513	61576697	1220	56763											
ALDH3A1	218	broad.mit.edu	37	chr17	19641649	19641649	+	Frame_Shift_Del	DEL	G	G	-													ctctcaccttggccgggctcGgggggtatctgaccttcagg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:19641648_19641648CG>C	uc002gwk.3	-	7	1949	c.1686_1686CG>G	c.(1684-1686)ccgfs	p.P562fs	ALDH3A1_uc010cqu.3_Frame_Shift_Del_p.P445fs|ALDH3A1_uc010vzd.2_Frame_Shift_Del_p.P445fs|ALDH3A1_uc002gwj.3_Frame_Shift_Del_p.P445fs|ALDH3A1_uc010cqv.3_Frame_Shift_Del_p.P444fs|ALDH3A1_uc002gwl.1_Frame_Shift_Del_p.P372fs			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	445					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	TGGCCGGGCTCGGGGGGTATC	0.627													-	19641649	G	-	19641649	7	5	84	1	0	1	0	1	0	0	0	0	497	1116	39	0	35	0	ALDH3A1	17	19641649	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	23136	19641649	61553561	1221	56764											
MAP2K3	5606	broad.mit.edu	37	chr17	21215533	21215533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcaggtggtggaggagcCgtccccccagctcccagccg	15	15	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:21215533C>T	uc002gys.2	+	10	1119	c.854C>T	c.(853-855)CCG>CTG	p.P285L	MAP2K3_uc002gyt.2_Missense_Mutation_p.P256L|MAP2K3_uc002gyu.2_Missense_Mutation_p.P256L	NM_145109	NP_659731	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	285	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0				COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GTGGAGGAGCCGTCCCCCCAG	0.652													T	21215533	C	T	21215533	3	4	84	1	0	0	0	0	1	0	0	0	9238	652	23	1	892	1	MAP2K3	17	21215533	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1573884	21215533	59979677	1222	56765											
NLK	51701	broad.mit.edu	37	chr17	26518101	26518101	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccctacctagatgaagggCgactacgatatcacacatgt	8	12	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:26518101C>T	uc010crj.2	+	9	1503	c.1291C>T	c.(1291-1293)CGA>TGA	p.R431*	NLK_uc010cri.1_RNA	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	nemo like kinase	431					intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGATGAAGGGCGACTACGATA	0.423													T	26518101	C	T	26518101	4	4	84	1	0	0	0	0	0	1	0	0	10466	760	27	1	1325	1	NLK	17	26518101	Nonsense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	5302568	26518101	54677109	1223	56766											
SUPT6H	6830	broad.mit.edu	37	chr17	27009838	27009838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagacagagcagtttcccgCggagcccttggagctggcca	14	13	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:27009838C>T	uc002hby.2	+	14	1781	c.1691C>T	c.(1690-1692)GCG>GTG	p.A564V	SUPT6H_uc010crt.2_Missense_Mutation_p.A564V	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	564					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					CAGTTTCCCGCGGAGCCCTTG	0.592													T	27009838	C	T	27009838	3	4	84	1	0	0	0	0	1	0	0	0	15397	768	27	1	1741	1	SUPT6H	17	27009838	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	491737	27009838	54185372	1224	56767											
NUFIP2	57532	broad.mit.edu	37	chr17	27614342	27614342	+	Frame_Shift_Del	DEL	T	T	-													actattgcgcctagctttccTttttttaggagttgtatatc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:27614341_27614341CT>C	uc002hdy.4	-	1	760	c.671_671AG>G	c.(670-672)aggfs	p.R224fs	NUFIP2_uc002hdx.4_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	224						nucleus|polysomal ribosome	RNA binding|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CCTAGCTTTCCTTTTTTTAGG	0.383													-	27614342	T	-	27614342	7	5	84	1	0	1	0	1	0	0	0	0	10749	1608	56	0	1429	0	NUFIP2	17	27614342	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	604504	27614342	53580868	1225	56768											
SSH2	85464	broad.mit.edu	37	chr17	27957929	27957929	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagtctcctaagggggTgagttctgccgtgttgctga	13	8	3	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:27957929T>C	uc002heo.1	-	15	4202	c.4202A>G	c.(4201-4203)CAC>CGC	p.H1401R	SSH2_uc010wbh.1_Missense_Mutation_p.H1428R	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	1401					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						CCTAAGGGGGTGAGTTCTGCC	0.532													C	27957929	T	C	27957929	3	2	84	1	0	0	0	0	1	0	0	0	15184	1696	59	3	73	3	SSH2	17	27957929	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	343587	27957929	53237281	1226	56769											
ATAD5	79915	broad.mit.edu	37	chr17	29221133	29221133	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgtttcacaaaagcgcaaTaatgtatactttagtcagtc	6	7	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:29221133T>C	uc002hfs.1	+	21	5608	c.5262T>C	c.(5260-5262)AAT>AAC	p.N1754N		NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1754					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAAAGCGCAATAATGTATACT	0.318													C	29221133	T	C	29221133	2	2	84	1	0	0	0	0	0	0	0	1	1076	1403	49	3		3	ATAD5	17	29221133	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1263204	29221133	51974077	1227	56770											
NF1	4763	broad.mit.edu	37	chr17	29553478	29553479	+	Frame_Shift_Ins	INS	-	-	C													gcagcaggatgcagcggaacINSccccccgatttgccgacaag					rs145092683		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:29553477_29553478A>AC	uc002hgg.3	+	17	2409_2410	c.2026_2027A>AC	c.(2026-2028)accfs	p.T676fs	NF1_uc002hgh.3_Frame_Shift_Ins_p.T676fs|NF1_uc010csn.2_Frame_Shift_Ins_p.T536fs|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	676					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.P678fs*10(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGCAGCGGAACCCCCCCGATT	0.46			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			C	29553479	-	C	29553478	7	5	84	1	0	1	1	0	0	0	0	0	10356	507	18	0	2158	0	NF1	17	29553478	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	332345	29553478	51641732	1228	56771											
NLE1	54475	broad.mit.edu	37	chr17	33460484	33460484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccacgcaatctggtacacGgcagccacgtggccgcgtag	13	14	1	0	rs148833526		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:33460484G>A	uc002hiy.1	-	11	1276	c.1248C>T	c.(1246-1248)GCC>GCT	p.A416A	NLE1_uc010ctn.1_Silent_p.A124A|NLE1_uc002hiz.1_Silent_p.A124A	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Notchless gene homolog isoform a	416	WD 7.					nucleolus				breast(3)|ovary(1)	4		Ovarian(249;0.17)				TCTGGTACACGGCAGCCACGT	0.572													A	33460484	G	A	33460484	2	1	84	1	0	0	0	0	0	0	0	1	10460	1103	39	1		1	NLE1	17	33460484	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	3907006	33460484	47734726	1229	56772											
AATF	26574	broad.mit.edu	37	chr17	35348137	35348137	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaagaaatctttgatgAtgatgacttttaccaccagg	10	6	1	6			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:35348137A>T	uc002hni.2	+	8	1630	c.1379A>T	c.(1378-1380)GAT>GTT	p.D460V	AATF_uc002hnj.2_RNA	NM_012138	NP_036270	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	460	RB1 and SP1 binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity				0		Breast(25;0.00607)				ATCTTTGATGATGATGACTTT	0.368													T	35348137	A	T	35348137	3	4	84	1	0	0	0	0	1	0	0	0	25	333	12	5	1409	5	AATF	17	35348137	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1887653	35348137	45847073	1230	56773											
GPR179	440435	broad.mit.edu	37	chr17	36483237	36483237	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcccagggacacacagccTcctgctgcctgaagtctgcc	9	17	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:36483237T>C	uc002hpz.2	-	11	6236	c.6215A>G	c.(6214-6216)GAG>GGG	p.E2072G		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	2072	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACACACAGCCTCCTGCTGCCT	0.562													C	36483237	T	C	36483237	3	2	84	1	0	0	0	0	1	0	0	0	6674	1551	54	3	892	3	GPR179	17	36483237	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1135100	36483237	44711973	1231	56774											
NEUROD2	4761	broad.mit.edu	37	chr17	37762190	37762190	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaagcggccggcaccgtcGgcgccttgctccgtgaggaa	16	13	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:37762190G>T	uc002hry.2	-	2	863	c.663C>A	c.(661-663)GCC>GCA	p.A221A		NM_006160	NP_006151	Q15784	NDF2_HUMAN	neurogenic differentiation 2	221					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			CGGCACCGTCGGCGCCTTGCT	0.662													T	37762190	G	T	37762190	2	4	84	1	0	0	0	0	0	0	0	1	10349	1103	39	5		5	NEUROD2	17	37762190	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1278953	37762190	43433020	1232	56775											
NR1D1	9572	broad.mit.edu	37	chr17	38251794	38251794	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggcatagacggtgcccgTtgctgttggactggtggcag	18	8	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:38251794T>C	uc002htz.1	-	5	1777	c.1151A>G	c.(1150-1152)AAC>AGC	p.N384S	NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_Intron	NM_021724	NP_068370	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	384					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			skin(1)	1	Colorectal(19;0.000442)					ACGGTGCCCGTTGCTGTTGGA	0.622													C	38251794	T	C	38251794	3	2	84	1	0	0	0	0	1	0	0	0	10615	1725	60	3	709	3	NR1D1	17	38251794	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	489604	38251794	42943416	1233	56776											
NR1D1	9572	broad.mit.edu	37	chr17	38252042	38252042	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccagcttgtcatgggcgtaGgtgaagatctctcgatgggc	14	10	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:38252042G>T	uc002htz.1	-	5	1529	c.903C>A	c.(901-903)ACC>ACA	p.T301T	NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_Intron	NM_021724	NP_068370	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	301					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			skin(1)	1	Colorectal(19;0.000442)					CATGGGCGTAGGTGAAGATCT	0.592													T	38252042	G	T	38252042	2	4	84	1	0	0	0	0	0	0	0	1	10615	987	35	5		5	NR1D1	17	38252042	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	248	38252042	42943168	1234	56777											
CASC3	22794	broad.mit.edu	37	chr17	38320386	38320386	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagaattggagtccggggCagccttctttcctgcaacca	10	12	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:38320386C>T	uc010cwt.1	+	7	1733	c.1438C>T	c.(1438-1440)CAG>TAG	p.Q480*	CASC3_uc010cws.1_Nonsense_Mutation_p.Q480*|CASC3_uc002hue.2_Nonsense_Mutation_p.Q480*	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	480	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						GAGTCCGGGGCAGCCTTCTTT	0.498													T	38320386	C	T	38320386	4	4	84	1	0	0	0	0	0	1	0	0	2661	711	25	2	1464	2	CASC3	17	38320386	Nonsense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	68344	38320386	42874824	1235	56778											
TNS4	84951	broad.mit.edu	37	chr17	38634836	38634836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccttgaacttacttccGttgctcagggtccataccac	7	15	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:38634836G>A	uc010cxb.2	-	11	2139	c.1975C>T	c.(1975-1977)CGG>TGG	p.R659W	TNS4_uc002huu.3_Missense_Mutation_p.R72W	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	659	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACTTACTTCCGTTGCTCAGGG	0.617													A	38634836	G	A	38634836	3	1	84	1	0	0	0	0	1	0	0	0	16342	1144	40	1	184	1	TNS4	17	38634836	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	314450	38634836	42560374	1236	56779											
KRT23	25984	broad.mit.edu	37	chr17	39092635	39092635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttgagattctgcatggtgGccttcccatttccgcctagt	10	12	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:39092635G>A	uc002hvm.1	-	2	810	c.221C>T	c.(220-222)GCC>GTC	p.A74V	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Missense_Mutation_p.A74V|KRT23_uc002hvn.1_Missense_Mutation_p.A74V	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	74	Rod.|Coil 1A.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)				CTGCATGGTGGCCTTCCCATT	0.622													A	39092635	G	A	39092635	3	1	84	1	0	0	0	0	1	0	0	0	8460	1203	42	2	1079	2	KRT23	17	39092635	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	457799	39092635	42102575	1237	56780											
KRTAP1-5	83895	broad.mit.edu	37	chr17	39183218	39183218	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggtctcacagcagcTtggctggcagcaactggagc	14	12	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:39183218T>G	uc002hvu.2	-	1	237	c.190A>C	c.(190-192)AGC>CGC	p.S64R		NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	keratin associated protein 1.5	64	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament					0		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			TCACAGCAGCTTGGCTGGCAG	0.617													G	39183218	T	G	39183218	3	3	84	1	0	0	0	0	1	0	0	0	8504	1609	56	5	338	5	KRTAP1-5	17	39183218	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	90583	39183218	42011992	1238	56781											
KRT17	3872	broad.mit.edu	37	chr17	39780474	39780474	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcaccttgtccaggtaggaGgccaggcggtcattgaggtt	15	10	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:39780474G>T	uc002hxh.2	-	1	409	c.288C>A	c.(286-288)GCC>GCA	p.A96A	JUP_uc010wfs.1_Intron|KRT17_uc010wft.1_Silent_p.A96A	NM_000422	NP_000413	Q04695	K1C17_HUMAN	keratin 17	96	Coil 1A.|Rod.		Missing (in PC2).	Missing (in Ref. 5; AAH72018).	epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2		Breast(137;0.000307)				CCAGGTAGGAGGCCAGGCGGT	0.642									Steatocystoma_Multiplex				T	39780474	G	T	39780474	2	4	84	1	0	0	0	0	0	0	0	1	8454	987	35	5		5	KRT17	17	39780474	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	597256	39780474	41414736	1239	56782											
SC65	10609	broad.mit.edu	37	chr17	39967232	39967232	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgctccatgtcctccgTgctgctgcggaaatccccgc	11	18	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:39967232T>C	uc002hxt.2	-	3	954	c.670A>G	c.(670-672)ACG>GCG	p.T224A	FKBP10_uc002hxv.2_5'Flank|SC65_uc002hxu.2_Missense_Mutation_p.T315A	NM_006455	NP_006446	Q92791	SC65_HUMAN	synaptonemal complex protein SC65	224					synaptonemal complex assembly	nucleolus|synaptonemal complex	binding				0		Breast(137;0.000162)		BRCA - Breast invasive adenocarcinoma(366;0.149)		ATGTCCTCCGTGCTGCTGCGG	0.647													C	39967232	T	C	39967232	3	2	84	1	0	0	0	0	1	0	0	0	13867	1696	59	3	667	3	SC65	17	39967232	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	186758	39967232	41227978	1240	56783											
ACLY	47	broad.mit.edu	37	chr17	40039404	40039404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacatggtggcacacgtccCgatgcaccagcagacgatgg	13	12	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:40039404C>T	uc002hyg.2	-	20	2399	c.2236G>A	c.(2236-2238)GGG>AGG	p.G746R	ACLY_uc002hyh.2_Missense_Mutation_p.G736R|ACLY_uc002hyi.2_Missense_Mutation_p.G800R|ACLY_uc010wfx.1_Missense_Mutation_p.G790R|ACLY_uc010wfy.1_Missense_Mutation_p.G475R	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	746					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				GCACACGTCCCGATGCACCAG	0.577													T	40039404	C	T	40039404	3	4	84	1	0	0	0	0	1	0	0	0	143	652	23	1	1109	1	ACLY	17	40039404	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	72172	40039404	41155806	1241	56784											
EZH1	2145	broad.mit.edu	37	chr17	40879701	40879701	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcattgactgaacaggTtggacacgaagcttcttcca	10	10	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:40879701T>C	uc002iaz.2	-	4	343	c.198A>G	c.(196-198)CAA>CAG	p.Q66Q	EZH1_uc002iba.2_Silent_p.Q66Q|EZH1_uc010wgt.1_5'UTR|EZH1_uc010wgu.1_Silent_p.Q72Q|EZH1_uc010wgv.1_Silent_p.Q66Q|EZH1_uc010wgw.1_Missense_Mutation_p.T8A|EZH1_uc010cyp.2_Missense_Mutation_p.T8A|EZH1_uc010cyq.2_Intron|EZH1_uc010cys.2_Silent_p.Q66Q	NM_001991	NP_001982	Q92800	EZH1_HUMAN	enhancer of zeste homolog 1	66					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			ovary(3)	3		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		ACTGAACAGGTTGGACACGAA	0.428													C	40879701	T	C	40879701	2	2	84	1	0	0	0	0	0	0	0	1	5333	1722	60	3		3	EZH1	17	40879701	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	840297	40879701	40315509	1242	56785											
VAT1	10493	broad.mit.edu	37	chr17	41168515	41168515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactgattccaccatgtccGggccagggccatcaggttcc	11	14	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:41168515G>A	uc002icm.1	-	5	1027	c.907C>T	c.(907-909)CGG>TGG	p.R303W	VAT1_uc010cyw.1_Missense_Mutation_p.R169W|VAT1_uc010whk.1_Missense_Mutation_p.R235W	NM_006373	NP_006364	Q99536	VAT1_HUMAN	vesicle amine transport protein 1	303						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding				0		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CACCATGTCCGGGCCAGGGCC	0.617													A	41168515	G	A	41168515	3	1	84	1	0	0	0	0	1	0	0	0	17126	1115	39	1	282	1	VAT1	17	41168515	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	288814	41168515	40026695	1243	56786											
MAP3K14	9020	broad.mit.edu	37	chr17	43348437	43348437	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccgaccttgaggcagagCggccctcggaagaactgagt	13	12	1	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:43348437C>T	uc002iiw.1	-	11	1918	c.1809G>A	c.(1807-1809)CCG>CCA	p.P603P	MAP3K14_uc002iiu.1_Silent_p.P133P|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Silent_p.P187P	NM_003954	NP_003945	Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase	603	Interaction with ZFP91.|Protein kinase.				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						TGAGGCAGAGCGGCCCTCGGA	0.672											OREG0024479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	43348437	C	T	43348437	2	4	84	1	0	0	0	0	0	0	0	1	9248	755	27	1		1	MAP3K14	17	43348437	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2179922	43348437	37846773	1244	56787											
ARHGAP27	201176	broad.mit.edu	37	chr17	43474075	43474075	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagcgactgcagtgtgggcCgcctctggaggaacttgcgg	17	11	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:43474075C>A	uc002iix.2	-	12	1459	c.1010G>T	c.(1009-1011)CGG>CTG	p.R337L	ARHGAP27_uc010dak.2_Missense_Mutation_p.R310L	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27 isoform a	678					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding				0	Renal(3;0.0405)					CAGTGTGGGCCGCCTCTGGAG	0.731													A	43474075	C	A	43474075	3	1	84	1	0	0	0	0	1	0	0	0	876	652	23	5	660	5	ARHGAP27	17	43474075	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	125638	43474075	37721135	1245	56788											
IMP5	162540	broad.mit.edu	37	chr17	43922517	43922517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccaccaggcccagctccGctcccccagccagcggcccc	8	26	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:43922517G>A	uc010wka.1	+	1	245	c.245G>A	c.(244-246)CGC>CAC	p.R82H	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	82	Extracellular (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		GCCCAGCTCCGCTCCCCCAGC	0.692													A	43922517	G	A	43922517	3	1	84	1	0	0	0	0	1	0	0	0	7721	1087	38	1	247	1	IMP5	17	43922517	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	448442	43922517	37272693	1246	56789											
HOXB3	3213	broad.mit.edu	37	chr17	46628218	46628218	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggctgccggctggagatggGccccccgacgacgaggccaa	17	14	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:46628218G>C	uc002inn.2	-	2	1174	c.774C>G	c.(772-774)GGC>GGG	p.G258G	HOXB3_uc010wlm.1_Silent_p.G185G|HOXB3_uc010dbf.2_Silent_p.G258G|HOXB3_uc010dbg.2_Silent_p.G258G|HOXB3_uc002ino.2_Silent_p.G258G|HOXB3_uc010wlk.1_Silent_p.G126G|HOXB3_uc010wll.1_Silent_p.G185G	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	258					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CTGGAGATGGGCCCCCCGACG	0.637											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	46628218	G	C	46628218	2	2	84	1	0	0	0	0	0	0	0	1	7302	1190	42	5		5	HOXB3	17	46628218	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	2705701	46628218	34566992	1247	56790											
HOXB4	3214	broad.mit.edu	37	chr17	46655263	46655263	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcatccaggggtagacgAcgggctctttgcacgcggag	16	11	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:46655263A>G	uc002inp.2	-	1	481	c.419T>C	c.(418-420)GTC>GCC	p.V140A	HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Intron|HOXB3_uc010dbg.2_Intron|HOXB3_uc010wlk.1_5'Flank|HOXB3_uc010wll.1_Intron	NM_024015	NP_076920	P17483	HXB4_HUMAN	homeobox B4	140						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGGGTAGACGACGGGCTCTTT	0.697													G	46655263	A	G	46655263	3	3	84	1	0	0	0	0	1	0	0	0	7303	275	10	3	344	3	HOXB4	17	46655263	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	27045	46655263	34539947	1248	56791											
IGF2BP1	10642	broad.mit.edu	37	chr17	47126785	47126785	+	Frame_Shift_Del	DEL	G	G	-													cagaagggacagagtaaccaGgcccaggcacggaggaagtg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:47126785delG	uc002iom.2	+	15	2047	c.1713delG	c.(1711-1713)CAGfs	p.Q571fs	IGF2BP1_uc010dbj.2_Frame_Shift_Del_p.Q432fs	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	571					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						AGAGTAACCAGGCCCAGGCAC	0.592													-	47126785	G	-	47126785	7	5	84	1	0	1	0	1	0	0	0	0	7573	991	35	0	1771	0	IGF2BP1	17	47126785	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	471522	47126785	34068425	1249	56792											
COL1A1	1277	broad.mit.edu	37	chr17	48263173	48263173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgacgctgtaggtgaagCggctgttgccctcggcgcgg	17	11	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:48263173C>T	uc002iqm.2	-	50	4340	c.4214G>A	c.(4213-4215)CGC>CAC	p.R1405H		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	1405	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	GTAGGTGAAGCGGCTGTTGCC	0.632			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						T	48263173	C	T	48263173	3	4	84	1	0	0	0	0	1	0	0	0	3677	768	27	1	188	1	COL1A1	17	48263173	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1136388	48263173	32932037	1250	56793											
ACSF2	80221	broad.mit.edu	37	chr17	48551138	48551139	+	Frame_Shift_Ins	INS	-	-	CA													agagctcgaggacttctttcINSacacacacccgaaggtgcag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:48551137_48551138T>TCA	uc010wmm.1	+	13	1766_1767	c.1662_1663T>TCA	c.(1660-1665)tttcacfs	p.F554fs	ACSF2_uc002iqu.2_Frame_Shift_Ins_p.F529fs|ACSF2_uc010wml.1_Frame_Shift_Ins_p.F486fs|ACSF2_uc010wmn.1_Frame_Shift_Ins_p.F516fs|ACSF2_uc010wmo.1_Frame_Shift_Ins_p.F369fs|ACSF2_uc010dbt.1_Frame_Shift_Ins_p.F33fs	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	529					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGGACTTCTTTCACACACACCC	0.525													CA	48551139	-	CA	48551138	7	5	84	1	0	1	1	0	0	0	0	0	175	826	29	0	1638	0	ACSF2	17	48551138	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	287965	48551138	32644072	1251	56794											
TOM1L1	10040	broad.mit.edu	37	chr17	52990096	52990097	+	Frame_Shift_Del	DEL	AA	AA	-													ttgtgaagaaggaatttgttAaagagaatttagttaagcta							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:52990095_52990096TAA>T	uc002iud.2	+	3	466_467	c.291_292TAA>T	c.(289-294)gttaaafs	p.V97fs	TOM1L1_uc002iub.3_Frame_Shift_Del_p.V62fs|TOM1L1_uc002iuc.3_Frame_Shift_Del_p.V97fs|TOM1L1_uc010dca.1_Frame_Shift_Del_p.V97fs|TOM1L1_uc010wnb.1_Frame_Shift_Del_p.V90fs|TOM1L1_uc010wnc.1_Frame_Shift_Del_p.V20fs|TOM1L1_uc010dbz.2_Frame_Shift_Del_p.V20fs|TOM1L1_uc010wnd.1_Frame_Shift_Del_p.V20fs|TOM1L1_uc010dcb.1_5'Flank	NM_005486	NP_005477	O75674	TM1L1_HUMAN	Homo sapiens target of myb1 (chicken)-like 1 (TOM1L1), mRNA.	97	VHS.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	Golgi stack|cytosol|endosome membrane|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						AGGAATTTGTTAAAGAGAATTT	0.317													-	52990097	AA	-	52990096	7	5	84	1	0	1	0	1	0	0	0	0	16349	363	13	0	306	0	TOM1L1	17	52990096	Frame_Shift_Del	DEL	AA	TCGA-BR-8372-01A-11D-2340-08	4438958	52990096	28205114	1252	56795											
DGKE	8526	broad.mit.edu	37	chr17	54925289	54925289	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcttttgtttctaggtttttGatgtaactaaaactcctcct	5	8	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:54925289G>T	uc002iur.2	+	5	931	c.751G>T	c.(751-753)GAT>TAT	p.D251Y	DGKE_uc002ius.1_Missense_Mutation_p.D251Y	NM_003647	NP_003638	P52429	DGKE_HUMAN	diacylglycerol kinase epsilon	251	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(2)	2	Breast(9;3.59e-07)					CTAGGTTTTTGATGTAACTAA	0.363													T	54925289	G	T	54925289	3	4	84	1	0	0	0	0	1	0	0	0	4468	1290	45	5	765	5	DGKE	17	54925289	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1935193	54925289	26269921	1253	56796											
SCPEP1	59342	broad.mit.edu	37	chr17	55075765	55075765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgtctttgtcagcgccaCgtgagacacctacaacgaga	10	11	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:55075765C>T	uc002iuv.3	+	10	953	c.900C>T	c.(898-900)CAC>CAT	p.H300H	SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Silent_p.H250H	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1 precursor	300					proteolysis	extracellular region	serine-type carboxypeptidase activity			skin(1)	1	Breast(9;2.86e-08)					GTCAGCGCCACGTGAGACACC	0.418													T	55075765	C	T	55075765	2	4	84	1	0	0	0	0	0	0	0	1	13935	535	19	1		1	SCPEP1	17	55075765	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	150476	55075765	26119445	1254	56797											
MKS1	54903	broad.mit.edu	37	chr17	56285882	56285882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattctccataccattgccaGggacttggtggtgcaggtct	11	11	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:56285882G>A	uc002ivr.1	-	12	1162	c.1087C>T	c.(1087-1089)CTG>TTG	p.L363L	MKS1_uc010wnq.1_Silent_p.L160L|MKS1_uc002ivs.1_Silent_p.L363L	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome type 1 protein isoform 1	363	B9.				cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1						ACCATTGCCAGGGACTTGGTG	0.527													A	56285882	G	A	56285882	2	1	84	1	0	0	0	0	0	0	0	1	9609	991	35	4		4	MKS1	17	56285882	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1210117	56285882	24909328	1255	56798											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	84	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	100502	56386384	24808826	1256	56799											
SUPT4H1	6827	broad.mit.edu	37	chr17	56423650	56423650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggatttgtaggccactcctCgacttttcagctcccgcacg	9	14	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:56423650C>T	uc002iwe.1	-	5	378	c.311G>A	c.(310-312)CGA>CAA	p.R104Q	uc010dct.1_Intron|uc010dcu.1_Intron|uc002ivz.2_Intron|uc010dcv.1_Intron|uc002iwa.2_RNA|uc002iwb.2_Intron|uc002iwc.2_Intron|SUPT4H1_uc002iwd.1_RNA	NM_003168	NP_003159	P63272	SPT4H_HUMAN	suppressor of Ty 4 homolog 1	104				QGIVRELKSRGVAYKSRDTAIKT -> HAKDSRSNVNKYEP RESSEGHDTCLASLFHSLRHSNSLFAL (in Ref. 3; BAC85230).	chromatin remodeling|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCCACTCCTCGACTTTTCAG	0.493													T	56423650	C	T	56423650	3	4	84	1	0	0	0	0	1	0	0	0	15395	884	31	1	46	1	SUPT4H1	17	56423650	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	37266	56423650	24771560	1257	56800											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	84	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	11511	56435161	24760049	1258	56801											
CLTC	1213	broad.mit.edu	37	chr17	57763113	57763115	+	In_Frame_Del	DEL	ATC	ATC	-													aaactgcatggaggcacaatAtcatggattttgccatgccc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:57763112_57763114TATC>T	uc002ixr.1	+	29	5225_5227	c.4782_4784TATC>T	c.(4780-4785)aatatc>aaTc	p.I1595del	CLTC_uc002ixp.3_In_Frame_Del_p.I1591del|CLTC_uc002ixq.1_In_Frame_Del_p.I1591del	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	1591	Heavy chain arm.|Proximal segment.|Trimerization (By similarity).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	p.A1595V(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GGAGGCACAATATCATGGATTTT	0.409			T	"ALK, TFE3"	"ALCL, renal "								-	57763115	ATC	-	57763113	7	5	84	1	0	1	0	1	0	0	0	0	3566	449	16	0	4889	0	CLTC	17	57763113	In_Frame_Del	DEL	ATC	TCGA-BR-8372-01A-11D-2340-08	1327952	57763113	23432097	1259	56802											
TLK2	11011	broad.mit.edu	37	chr17	60685462	60685462	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatacgattcttaaagctActgaagtgcagttcccgcca	8	10	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:60685462A>G	uc010ddp.2	+	22	2366	c.2098A>G	c.(2098-2100)ACT>GCT	p.T700A	TLK2_uc002izx.3_Missense_Mutation_p.T526A|TLK2_uc002izz.3_Missense_Mutation_p.T678A|TLK2_uc002jaa.3_Missense_Mutation_p.T646A|TLK2_uc010wpd.1_Missense_Mutation_p.T646A	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	700	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2						TCTTAAAGCTACTGAAGTGCA	0.428													G	60685462	A	G	60685462	3	3	84	1	0	0	0	0	1	0	0	0	15941	391	14	3	2110	3	TLK2	17	60685462	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2922349	60685462	20509748	1260	56803											
MARCH10	162333	broad.mit.edu	37	chr17	60837243	60837243	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctgctttccttacagtcAtggtacttttatgtttctgc	6	10	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:60837243A>G	uc010ddr.2	-	4	573	c.335T>C	c.(334-336)ATG>ACG	p.M112T	MARCH10_uc002jag.3_Missense_Mutation_p.M112T|MARCH10_uc010dds.2_Missense_Mutation_p.M112T|MARCH10_uc002jah.2_Missense_Mutation_p.M112T	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN	ring finger protein 190	112							ligase activity|zinc ion binding				0						CCTTACAGTCATGGTACTTTT	0.413													G	60837243	A	G	60837243	3	3	84	1	0	0	0	0	1	0	0	0	9299	217	8	3	2123	3	MARCH10	17	60837243	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	151781	60837243	20357967	1261	56804											
TANC2	26115	broad.mit.edu	37	chr17	61498806	61498806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatatgagaggtcatgtgaCgagctgtcgccagtgtctcc	13	10	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:61498806C>T	uc002jal.3	+	25	5486	c.5463C>T	c.(5461-5463)GAC>GAT	p.D1821D	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Silent_p.D932D	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1821							binding			ovary(2)	2						GGTCATGTGACGAGCTGTCGC	0.532													T	61498806	C	T	61498806	2	4	84	1	0	0	0	0	0	0	0	1	15542	535	19	1		1	TANC2	17	61498806	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	661563	61498806	19696404	1262	56805											
MAP3K3	4215	broad.mit.edu	37	chr17	61759260	61759260	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagaccagcgagcagtgcGtgagtataggggggctggga	19	7	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:61759260G>A	uc002jbg.2	+	7	955	c.636_splice	c.e7+1	p.C212_splice	MAP3K3_uc002jbe.2_Splice_Site_p.C243_splice|MAP3K3_uc002jbf.2_Splice_Site_p.C243_splice|MAP3K3_uc002jbh.2_Splice_Site_p.C243_splice|MAP3K3_uc010wpo.1_Splice_Site_p.C127_splice|MAP3K3_uc010wpp.1_Splice_Site_p.C212_splice	NM_002401	NP_002392	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3						MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	6						CGAGCAGTGCGTGAGTATAGG	0.562													A	61759260	G	A	61759260	5	1	84	1	0	0	0	0	0	0	1	0	9251	1159	40	1	760	1	MAP3K3	17	61759260	Splice_Site	SNP	G	TCGA-BR-8372-01A-11D-2340-08	260454	61759260	19435950	1263	56806											
LRRC37A3	374819	broad.mit.edu	37	chr17	62893280	62893280	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagcctccttgactagTagccacaatagttgccacat	9	12	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:62893280T>C	uc002jey.2	-	3	627	c.96A>G	c.(94-96)CTA>CTG	p.L32L	LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	32						integral to membrane					0						CCTTGACTAGTAGCCACAATA	0.627													C	62893280	T	C	62893280	2	2	84	1	0	0	0	0	0	0	0	1	8993	1625	57	3		3	LRRC37A3	17	62893280	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1134020	62893280	18301930	1264	56807											
CACNG4	27092	broad.mit.edu	37	chr17	65014359	65014359	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcccagaggacaatgactAcgaccacgacagctcggagt	10	13	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:65014359A>G	uc002jft.1	+	2	290	c.275A>G	c.(274-276)TAC>TGC	p.Y92C		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	voltage-dependent calcium channel gamma-4	92	Extracellular (Potential).				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)	1	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GACAATGACTACGACCACGAC	0.557													G	65014359	A	G	65014359	3	3	84	1	0	0	0	0	1	0	0	0	2559	391	14	3	281	3	CACNG4	17	65014359	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2121079	65014359	16180851	1265	56808											
BPTF	2186	broad.mit.edu	37	chr17	65871139	65871139	+	Splice_Site	DEL	A	A	-													agcaaggaaaatctgagggtAaaaaaattacttgattaaaa							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:65871138_65871138TA>T	uc002jgf.3	+	4	1925	c.1864_splice	c.e4+2	p.V622_splice	BPTF_uc002jge.3_Splice_Site_p.E622_splice|BPTF_uc010wqm.1_Splice_Site_p.E622_splice	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	748					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AATCTGAGGGTAAAAAAATTA	0.338													-	65871139	A	-	65871139	8	5	84	1	0	1	0	1	0	0	1	0	1495	377	13	0		0	BPTF	17	65871139	Splice_Site	DEL	A	TCGA-BR-8372-01A-11D-2340-08	856780	65871139	15324071	1266	56809											
ABCA9	10350	broad.mit.edu	37	chr17	66981227	66981227	+	Silent	SNP	G	G	C													ccctctgacaaggtcttcacGggagccttcagctggtcctg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:66981227G>C	uc002jhu.2	-	33	4394	c.4251C>G	c.(4249-4251)CCC>CCG	p.P1417P	ABCA9_uc010dez.2_Silent_p.P1379P	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1417	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					AGGTCTTCACGGGAGCCTTCA	0.532													C	66981227	G	C	66981227	2	2	84	1	0	0	0	0	0	0	0	1	39	1103	39	5		5	ABCA9	17	66981227	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1110088	66981227	14213983	1267	56810	248	2									
ABCA9	10350	broad.mit.edu	37	chr17	66981232	66981232	+	Missense_Mutation	SNP	C	C	A													tgacaaggtcttcacgggagCcttcagctggtcctgcagct							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:66981232C>A	uc002jhu.2	-	33	4389	c.4246G>T	c.(4246-4248)GCT>TCT	p.A1416S	ABCA9_uc010dez.2_Missense_Mutation_p.A1378S	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1416	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					TTCACGGGAGCCTTCAGCTGG	0.527													A	66981232	C	A	66981232	3	1	84	1	0	0	0	0	1	0	0	0	39	739	26	5	656	5	ABCA9	17	66981232	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	5	66981232	14213978	1268	56811	248	2									
ABCA5	23461	broad.mit.edu	37	chr17	67261049	67261049	+	Splice_Site	DEL	A	A	-													ttgagtataagctttgatctAaaaaaaatgaaaaacaattt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:67261048_67261048TA>T	uc002jif.2	-	23	4363	c.3145_splice	c.e23-1	p.I1049_splice	ABCA5_uc002jib.2_Splice_Site_p.I15_splice|ABCA5_uc002jic.2_Splice_Site_p.I272_splice|ABCA5_uc002jid.2_Intron|ABCA5_uc002jie.2_Splice_Site|ABCA5_uc002jig.2_Splice_Site_p.I1049_splice	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1049					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					AGCTTTGATCTAAAAAAAATG	0.259													-	67261049	A	-	67261049	8	5	84	1	0	1	0	1	0	0	1	0	35	377	13	0		0	ABCA5	17	67261049	Splice_Site	DEL	A	TCGA-BR-8372-01A-11D-2340-08	279817	67261049	13934161	1269	56812											
GRIN2C	2905	broad.mit.edu	37	chr17	72851126	72851126	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggcggccctgagctgctaaAcaccacagccaccgtcatgc	11	16	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:72851126A>T	uc002jlt.1	-	2	262	c.106T>A	c.(106-108)TTT>ATT	p.F36I	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.F36I|GRIN2C_uc002jlv.1_Missense_Mutation_p.F36I	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	36	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GAGCTGCTAAACACCACAGCC	0.706													T	72851126	A	T	72851126	3	4	84	1	0	0	0	0	1	0	0	0	6781	43	2	5	3643	5	GRIN2C	17	72851126	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	5590077	72851126	8344084	1270	56813											
USH1G	124590	broad.mit.edu	37	chr17	72916353	72916353	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtggctgcccagcgccAgatgctgcagccggcggctc	16	15	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:72916353A>C	uc002jme.1	-	2	761	c.578T>G	c.(577-579)CTG>CGG	p.L193R	USH1G_uc010wro.1_Missense_Mutation_p.L90R	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Usher syndrome 1G protein	193					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton				skin(2)	2	all_lung(278;0.172)|Lung NSC(278;0.207)					GCCCAGCGCCAGATGCTGCAG	0.692													C	72916353	A	C	72916353	3	2	84	1	0	0	0	0	1	0	0	0	17032	188	7	5	815	5	USH1G	17	72916353	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	65227	72916353	8278857	1271	56814											
ICT1	3396	broad.mit.edu	37	chr17	73008915	73008915	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcaagagcatctacagccTggacaagctctaccccgaat	8	13	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:73008915T>C	uc002jmm.2	+	1	136	c.134T>C	c.(133-135)CTG>CCG	p.L45P		NM_001545	NP_001536	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1 precursor	45					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			ovary(1)|central_nervous_system(1)	2	all_lung(278;0.226)					ATCTACAGCCTGGACAAGCTC	0.662											OREG0024724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	73008915	T	C	73008915	3	2	84	1	0	0	0	0	1	0	0	0	7488	1580	55	3	136	3	ICT1	17	73008915	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	92562	73008915	8186295	1272	56815											
KCTD2	23510	broad.mit.edu	37	chr17	73043606	73043606	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acctacttcgtgaccaccagAcagaccttaggccgggagcc	10	15	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:73043606A>C	uc002jmp.2	+	1	328	c.261A>C	c.(259-261)AGA>AGC	p.R87S	KCTD2_uc010dfy.1_Intron|KCTD2_uc010dfz.2_Intron|ATP5H_uc002jmn.1_5'Flank|ATP5H_uc002jmo.1_5'Flank|KCTD2_uc002jmq.2_RNA	NM_015353	NP_056168	Q14681	KCTD2_HUMAN	potassium channel tetramerisation domain	87	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity				0	all_lung(278;0.226)					TGACCACCAGACAGACCTTAG	0.388													C	73043606	A	C	73043606	3	2	84	1	0	0	0	0	1	0	0	0	8107	272	10	5	263	5	KCTD2	17	73043606	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	34691	73043606	8151604	1273	56816											
KIAA0195	9772	broad.mit.edu	37	chr17	73485723	73485723	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggggtcacttcctggcagTacaccctcctccagctccag	10	17	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:73485723T>C	uc002jnz.3	+	9	1209	c.934T>C	c.(934-936)TAC>CAC	p.Y312H	KIAA0195_uc010wsa.1_Missense_Mutation_p.Y322H|KIAA0195_uc010wsb.1_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	312					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCCTGGCAGTACACCCTCCT	0.632													C	73485723	T	C	73485723	3	2	84	1	0	0	0	0	1	0	0	0	8160	1638	57	3	964	3	KIAA0195	17	73485723	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	442117	73485723	7709487	1274	56817											
CASKIN2	57513	broad.mit.edu	37	chr17	73504338	73504338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcatcctggtagttcacGttgagcctctttgtggagcc	11	11	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:73504338G>A	uc002joc.2	-	3	673	c.123C>T	c.(121-123)AAC>AAT	p.N41N	CASKIN2_uc010wsc.1_Translation_Start_Site|CASKIN2_uc002jod.2_Silent_p.N41N	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	41						cytoplasm				pancreas(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGTAGTTCACGTTGAGCCTCT	0.627													A	73504338	G	A	73504338	2	1	84	1	0	0	0	0	0	0	0	1	2667	1136	40	1		1	CASKIN2	17	73504338	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	18615	73504338	7690872	1275	56818											
ITGB4	3691	broad.mit.edu	37	chr17	73750744	73750744	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacgaccagtgctgctgcctAtggcacccacctgagcccac	9	18	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:73750744A>T	uc002jpg.2	+	34	4593	c.4406A>T	c.(4405-4407)TAT>TTT	p.Y1469F	ITGB4_uc002jph.2_Missense_Mutation_p.Y1399F|ITGB4_uc002jpi.3_Missense_Mutation_p.Y1399F|ITGB4_uc002jpj.2_Missense_Mutation_p.Y1399F|GALK1_uc010wsi.1_Intron	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1469	Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGCTGCCTATGGCACCCAC	0.622													T	73750744	A	T	73750744	3	4	84	1	0	0	0	0	1	0	0	0	7897	449	16	5	4536	5	ITGB4	17	73750744	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	246406	73750744	7444466	1276	56819											
UNC13D	201294	broad.mit.edu	37	chr17	73836398	73836398	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggtaccactggtcctctcGgcagcgcaggtcctgacagg	15	13	1	1	rs121434352		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:73836398G>T	uc002jpp.2	-	10	1146	c.766C>A	c.(766-768)CGA>AGA	p.R256R	UNC13D_uc010wsk.1_Silent_p.R256R|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_Silent_p.R53R	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	256	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			upper_aerodigestive_tract(1)|skin(1)	2			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGTCCTCTCGGCAGCGCAGG	0.657									Familial_Hemophagocytic_Lymphohistiocytosis				T	73836398	G	T	73836398	2	4	84	1	0	0	0	0	0	0	0	1	16984	1124	39	5		5	UNC13D	17	73836398	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	85654	73836398	7358812	1277	56820											
ACOX1	51	broad.mit.edu	37	chr17	73945329	73945329	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cccccgcgttctgactgattCcatacagagaatacagcaga	8	13	1	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:73945329C>A	uc002jqf.2	-	12	1987	c.1697G>T	c.(1696-1698)GGA>GTA	p.G566V	ACOX1_uc010wsq.1_Missense_Mutation_p.G528V|ACOX1_uc002jqe.2_Missense_Mutation_p.G566V|ACOX1_uc010wsr.1_Missense_Mutation_p.G498V	NM_007292	NP_009223	Q15067	ACOX1_HUMAN	acyl-Coenzyme A oxidase 1 isoform b	566					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			ovary(1)	1						CTGACTGATTCCATACAGAGA	0.318													A	73945329	C	A	73945329	3	1	84	1	0	0	0	0	1	0	0	0	158	855	30	5	297	5	ACOX1	17	73945329	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	108931	73945329	7249881	1278	56821											
UBE2O	63893	broad.mit.edu	37	chr17	74387141	74387141	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgggaagagggggaagccGatgtcagggtagccactctt	17	7	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:74387141G>A	uc002jrm.3	-	18	3827	c.3762C>T	c.(3760-3762)ATC>ATT	p.I1254I	UBE2O_uc002jrl.3_Silent_p.I858I	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1254							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						GGGGGAAGCCGATGTCAGGGT	0.587													A	74387141	G	A	74387141	2	1	84	1	0	0	0	0	0	0	0	1	16865	1048	37	1		1	UBE2O	17	74387141	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	441812	74387141	6808069	1279	56822											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74622396	74622396	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaaaggttttttgacaTcaccgtctgattcataagca	7	9	3	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:74622396T>G	uc002jsh.2	-	6	1564	c.1390A>C	c.(1390-1392)ATG>CTG	p.M464L	ST6GALNAC1_uc002jsi.2_Missense_Mutation_p.M332L|ST6GALNAC1_uc002jsj.2_Intron	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	sialyltransferase 7A	464	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity				0						TTTTTTGACATCACCGTCTGA	0.542													G	74622396	T	G	74622396	3	3	84	1	0	0	0	0	1	0	0	0	15222	1435	50	5	428	5	ST6GALNAC1	17	74622396	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	235255	74622396	6572814	1280	56823											
ENGASE	64772	broad.mit.edu	37	chr17	77080692	77080692	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tataagcttgaggggcccacGgacgtcacagttgctttgga	13	9	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:77080692G>A	uc002jwv.2	+	11	1523	c.1515G>A	c.(1513-1515)ACG>ACA	p.T505T	ENGASE_uc002jww.2_Silent_p.T211T	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	505						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			skin(1)	1						AGGGGCCCACGGACGTCACAG	0.582													A	77080692	G	A	77080692	2	1	84	1	0	0	0	0	0	0	0	1	5118	1103	39	1		1	ENGASE	17	77080692	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	2458296	77080692	4114518	1281	56824											
CCDC40	55036	broad.mit.edu	37	chr17	78013751	78013751	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggaagcagcagtggaAggggaagaggaggctgtgtc	21	4	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:78013751A>G	uc010dht.2	+	3	261	c.234A>G	c.(232-234)GAA>GAG	p.E78E	CCDC40_uc010wub.1_Silent_p.E78E	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	78					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			cagcagtggaaggggaagagg	0.353													G	78013751	A	G	78013751	2	3	84	1	0	0	0	0	0	0	0	1	2812	69	3	3		3	CCDC40	17	78013751	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	933059	78013751	3181459	1282	56825											
RNF213	57674	broad.mit.edu	37	chr17	78261868	78261869	+	Frame_Shift_Ins	INS	-	-	C													ccaccgaggttggcgacagcINScccctgcaggcccaggcttt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:78261867_78261868G>GC	uc002jyh.2	+	4	805_806	c.662_663G>GC	c.(661-663)agcfs	p.S221fs	RNF213_uc002jyf.3_Frame_Shift_Ins_p.S172fs|RNF213_uc021uen.1_Frame_Shift_Ins_p.S172fs|RNF213_uc002jyg.1_5'UTR	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	172										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTTGGCGACAGCCCCCTGCAGG	0.698													C	78261869	-	C	78261868	7	5	84	1	0	1	1	0	0	0	0	0	13477	738	26	0	677	0	RNF213	17	78261868	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	248117	78261868	2933342	1283	56826											
RNF213	57674	broad.mit.edu	37	chr17	78319491	78319491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaagctggtcaaggtgcaCggaggaacaactgcagacat	12	8	1	1	rs138032722	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:78319491C>T	uc002jyh.1	+	4	1798	c.1575C>T	c.(1573-1575)CAC>CAT	p.H525H		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCAAGGTGCACGGAGGAACAA	0.498													T	78319491	C	T	78319491	2	4	84	1	0	0	0	0	0	0	0	1	13477	535	19	1		1	RNF213	17	78319491	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	57623	78319491	2875719	1284	56827											
SIRT7	51547	broad.mit.edu	37	chr17	79870360	79870360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagccccctaggatgggggCcgagctaagcggtgcacccc	14	16	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:79870360C>T	uc002kcj.1	-	10	1168	c.1135G>A	c.(1135-1137)GCC>ACC	p.A379T	PCYT2_uc010wva.1_5'Flank|PCYT2_uc010wvb.1_5'Flank|PCYT2_uc002kce.1_5'Flank|PCYT2_uc002kcf.1_5'Flank|PCYT2_uc002kcg.1_5'Flank|PCYT2_uc002kch.1_5'Flank|PCYT2_uc002kci.1_5'Flank|PCYT2_uc010dii.1_5'Flank|PCYT2_uc010wvc.1_5'Flank|SIRT7_uc002kck.1_Missense_Mutation_p.A230T|SIRT7_uc002kcl.1_Missense_Mutation_p.A297T	NM_016538	NP_057622	Q9NRC8	SIRT7_HUMAN	sirtuin 7	379					chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGGATGGGGGCCGAGCTAAGC	0.597													T	79870360	C	T	79870360	3	4	84	1	0	0	0	0	1	0	0	0	14343	739	26	2	71	2	SIRT7	17	79870360	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1550869	79870360	1324850	1285	56828											
GPS1	2873	broad.mit.edu	37	chr17	80014641	80014641	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgtggactcacacagcaAggtggctgtgggctgcgggg	18	10	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:80014641A>G	uc002kdl.1	+	11	1310	c.1265A>G	c.(1264-1266)AAG>AGG	p.K422R	GPS1_uc002kdk.1_Missense_Mutation_p.K458R|GPS1_uc010dij.1_Missense_Mutation_p.K457R|GPS1_uc002kdm.1_Missense_Mutation_p.K402R|GPS1_uc002kdn.1_Missense_Mutation_p.K418R|GPS1_uc002kdo.1_Missense_Mutation_p.K421R|GPS1_uc010wvh.1_Missense_Mutation_p.K414R	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	422	PCI.				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TCACACAGCAAGGTGGCTGTG	0.667													G	80014641	A	G	80014641	3	3	84	1	0	0	0	0	1	0	0	0	6732	86	3	3	1464	3	GPS1	17	80014641	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	144281	80014641	1180569	1286	56829											
FASN	2194	broad.mit.edu	37	chr17	80049317	80049317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggtgcgtccgctggcccGcagcagacggggcagggtgg	21	11	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:80049317G>A	uc002kdu.2	-	9	1390	c.1273C>T	c.(1273-1275)CGG>TGG	p.R425W	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	425					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCGCTGGCCCGCAGCAGACGG	0.692													A	80049317	G	A	80049317	3	1	84	1	0	0	0	0	1	0	0	0	5683	1086	38	1	6402	1	FASN	17	80049317	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	34676	80049317	1145893	1287	56830											
HEXDC	284004	broad.mit.edu	37	chr17	80400208	80400208	+	Frame_Shift_Del	DEL	C	C	-													ggacctcagcgaggtgtctgCccccccgctgccacccacca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:80400208delC	uc002kew.2	+	12	1460	c.1409delC	c.(1408-1410)GCCfs	p.A470fs	HEXDC_uc002kev.3_Frame_Shift_Del_p.P500fs|HEXDC_uc010diq.2_Frame_Shift_Del_p.C472fs|HEXDC_uc010wvm.1_RNA			Q8WVB3	HEXDC_HUMAN	SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;	470					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			ovary(1)|skin(1)	2	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GAGGTGTCTGCCCCCCCGCTG	0.687													-	80400208	C	-	80400208	7	5	84	1	0	1	0	1	0	0	0	0	7075	739	26	0	1540	0	HEXDC	17	80400208	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	350891	80400208	795002	1288	56831											
HEXDC	284004	broad.mit.edu	37	chr17	80400298	80400299	+	Frame_Shift_Ins	INS	-	-	G													ggggctcctgctggaggctgINSggggggctctgcactgccaa							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:80400297_80400298T>TG	uc002kev.4	+	11	2003_2004	c.1587_1588T>TG	c.(1585-1590)gctgggfs	p.A529fs	HEXDC_uc002kew.3_3'UTR|HEXDC_uc010wvm.2_Non-coding_Transcript	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA.	89					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TGCTGGAGGCTGGGGGGGCTCT	0.693													G	80400299	-	G	80400298	7	5	84	1	0	1	1	0	0	0	0	0	7075	1348	47	0	1630	0	HEXDC	17	80400298	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	90	80400298	794912	1289	56832											
METRNL	284207	broad.mit.edu	37	chr17	81043008	81043009	+	Frame_Shift_Ins	INS	-	-	A													ggggccaatatttatttggaINSaaaaactggagaactgagac							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:81043007_81043008G>GA	uc002kgh.3	+	1	489_490	c.364_365G>GA	c.(364-366)gaafs	p.E122fs	METRNL_uc002kgi.3_Frame_Shift_Ins_p.E40fs	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	Homo sapiens meteorin, glial cell differentiation regulator-like (METRNL), mRNA.	122						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TATTTATTTGGAAAAAACTGGA	0.614													A	81043009	-	A	81043008	7	5	84	1	0	1	1	0	0	0	0	0	9489	246	9	0	371	0	METRNL	17	81043008	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	642710	81043008	152202	1290	56833											
MYOM1	8736	broad.mit.edu	37	chr18	3084001	3084001	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcacctatttttttgcatActtccatcatcagttcctta	2	12	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:3084001A>G	uc002klp.2	-	32	4698	c.4364T>C	c.(4363-4365)GTA>GCA	p.V1455A	MYOM1_uc002klq.2_Missense_Mutation_p.V1359A	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	1455						striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						TTTTTTGCATACTTCCATCAT	0.378													G	3084001	A	G	3084001	3	3	84	1	0	0	0	0	1	0	0	0	10091	391	14	3	721	3	MYOM1	18	3084001	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08		3084001	74993247	1291	56834											
MYL12A	10627	broad.mit.edu	37	chr18	3253948	3253948	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggctccaggccccatcaaTttcaccatgttcctcaccat	6	16	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:3253948T>C	uc002klr.2	+	3	638	c.243T>C	c.(241-243)AAT>AAC	p.N81N	MYL12A_uc002kls.2_Silent_p.N87N	NM_006471	NP_006462	P19105	ML12A_HUMAN	myosin, light chain 12A, regulatory,	81						myosin complex	calcium ion binding|protein binding				0						GCCCCATCAATTTCACCATGT	0.393													C	3253948	T	C	3253948	2	2	84	1	0	0	0	0	0	0	0	1	10045	1490	52	3		3	MYL12A	18	3253948	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	169947	3253948	74823300	1292	56835											
ARHGAP28	79822	broad.mit.edu	37	chr18	6887167	6887167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgttaggagggcctcacGtcaaagtacagtttcaagcc	10	10	4	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:6887167G>A	uc010wzi.1	+	11	1172	c.934G>A	c.(934-936)GTC>ATC	p.V312I	ARHGAP28_uc002knc.2_Missense_Mutation_p.V437I|ARHGAP28_uc002knd.2_Missense_Mutation_p.V330I|ARHGAP28_uc002kne.2_Missense_Mutation_p.V330I|ARHGAP28_uc002knf.2_Missense_Mutation_p.V321I			B4DXL2	B4DXL2_HUMAN	SubName: Full=Putative uncharacterized protein ARHGAP28;	312					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)				AGGGCCTCACGTCAAAGTACA	0.493													A	6887167	G	A	6887167	3	1	84	1	0	0	0	0	1	0	0	0	877	1145	40	1	1026	1	ARHGAP28	18	6887167	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	3633219	6887167	71190081	1293	56836											
LAMA1	284217	broad.mit.edu	37	chr18	6958590	6958590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagattggacacatttatcGtcctgctttctactaatgtg	7	9	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:6958590G>A	uc002knm.2	-	55	7944	c.7850C>T	c.(7849-7851)ACG>ATG	p.T2617M	LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Missense_Mutation_p.T70M|LAMA1_uc010wzj.1_Missense_Mutation_p.T2093M	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2617	Laminin G-like 3.				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)	CACATTTATCGTCCTGCTTTC	0.428													A	6958590	G	A	6958590	3	1	84	1	0	0	0	0	1	0	0	0	8605	1145	40	1	1413	1	LAMA1	18	6958590	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	71423	6958590	71118658	1294	56837											
LAMA1	284217	broad.mit.edu	37	chr18	7016644	7016644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagggccggcagccatgGcctgagtccagcccataata	12	13	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:7016644G>A	uc002knm.2	-	21	2929	c.2835C>T	c.(2833-2835)GGC>GGT	p.G945G	LAMA1_uc010wzj.1_Silent_p.G421G	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	945	Laminin EGF-like 9.				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)	GGCAGCCATGGCCTGAGTCCA	0.527													A	7016644	G	A	7016644	2	1	84	1	0	0	0	0	0	0	0	1	8605	1190	42	2		2	LAMA1	18	7016644	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	58054	7016644	71060604	1295	56838											
LAMA1	284217	broad.mit.edu	37	chr18	7032152	7032152	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagagtattccatccacGcggtaatagccagagaggca	10	11	0	2	rs139947483		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:7032152G>A	uc002knm.2	-	16	2281	c.2187C>T	c.(2185-2187)CGC>CGT	p.R729R	LAMA1_uc010wzj.1_Silent_p.R205R	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	729	Laminin EGF-like 5; second part.				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)	TTCCATCCACGCGGTAATAGC	0.483													A	7032152	G	A	7032152	2	1	84	1	0	0	0	0	0	0	0	1	8605	1074	38	1		1	LAMA1	18	7032152	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	15508	7032152	71045096	1296	56839											
PTPN2	5771	broad.mit.edu	37	chr18	12817367	12817367	+	Splice_Site	DEL	A	A	-													tgttctggtttcaccactctAaaaagtgaaaatcaagggag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:12817366_12817366TA>T	uc002krp.3	-	6	690	c.496_splice	c.e6-1	p.S166_splice	PTPN2_uc002krn.3_Splice_Site_p.S189_splice|PTPN2_uc002krl.3_Splice_Site_p.S166_splice|PTPN2_uc002krm.3_Splice_Site_p.S166_splice	NM_002828	NP_002819	P17706	PTN2_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 2 (PTPN2), transcript variant 1, mRNA.	166	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				TTCACCACTCTAAAAAGTGAA	0.308													-	12817367	A	-	12817367	8	5	84	1	0	1	0	1	0	0	1	0	12785	377	13	0		0	PTPN2	18	12817367	Splice_Site	DEL	A	TCGA-BR-8372-01A-11D-2340-08	5785215	12817367	65259881	1297	56840											
DSG1	1828	broad.mit.edu	37	chr18	28914077	28914077	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagctaactggatggcagTaattttctttatctctggaa	8	8	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:28914077T>C	uc002kwp.2	+	8	1129	c.917T>C	c.(916-918)GTA>GCA	p.V306A		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	306	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGGATGGCAGTAATTTTCTTT	0.308													C	28914077	T	C	28914077	3	2	84	1	0	0	0	0	1	0	0	0	4776	1638	57	3	947	3	DSG1	18	28914077	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	16096710	28914077	49163171	1298	56841											
FHOD3	80206	broad.mit.edu	37	chr18	34310665	34310665	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctggattccaagaggagTaacgccatcaatattggtct	10	8	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:34310665T>C	uc002kzt.1	+	16	2995	c.2898T>C	c.(2896-2898)AGT>AGC	p.S966S	FHOD3_uc002kzs.1_Silent_p.S983S|FHOD3_uc010dmz.1_Silent_p.S698S|FHOD3_uc010dnb.1_5'UTR	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	966	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCAAGAGGAGTAACGCCATCA	0.408													C	34310665	T	C	34310665	2	2	84	1	0	0	0	0	0	0	0	1	5883	1635	57	3		3	FHOD3	18	34310665	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	5396588	34310665	43766583	1299	56842											
KIAA1632	57724	broad.mit.edu	37	chr18	43534484	43534484	+	Frame_Shift_Del	DEL	A	A	-													tcctacatcgtgagtagttcAaaagcaactcataaaattca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:43534484delA	uc002lbm.2	-	2	984	c.884delT	c.(883-885)TTGfs	p.L295fs	KIAA1632_uc002lbo.1_Frame_Shift_Del_p.L295fs	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	295					autophagy						0						TGAGTAGTTCAAAAGCAACTC	0.433													-	43534484	A	-	43534484	7	5	84	1	0	1	0	1	0	0	0	0	8249	131	5	0	7027	0	KIAA1632	18	43534484	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	9223819	43534484	34542764	1300	56843											
PIAS2	9063	broad.mit.edu	37	chr18	44392466	44392466	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccctgtctcactcctgctgCtggatgaactaacatgagta	8	13	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:44392466C>A	uc002lck.2	-	14	1954	c.1796G>T	c.(1795-1797)AGC>ATC	p.S599I	PIAS2_uc010dnp.2_Missense_Mutation_p.S297I	NM_004671	NP_004662	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT X isoform	599	Poly-Ser.|Ser-rich.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						ACTCCTGCTGCTGGATGAACT	0.468													A	44392466	C	A	44392466	3	1	84	1	0	0	0	0	1	0	0	0	11876	797	28	5	73	5	PIAS2	18	44392466	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	857982	44392466	33684782	1301	56844											
TCEB3B	51224	broad.mit.edu	37	chr18	44560351	44560351	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggacaggaggcaattTcttagccgaatcccaggact	10	11	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:44560351T>A	uc002lcr.1	-	1	1638	c.1285A>T	c.(1285-1287)AAA>TAA	p.K429*	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	429					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GGAGGCAATTTCTTAGCCGAA	0.542													A	44560351	T	A	44560351	4	1	84	1	0	0	0	0	0	1	0	0	15679	1792	62	5	980	5	TCEB3B	18	44560351	Nonsense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	167885	44560351	33516897	1302	56845											
KIAA0427	9811	broad.mit.edu	37	chr18	46287883	46287883	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagctcaccaccttcatggaGgaggcccagaactccaccaa	8	15	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:46287883G>T	uc002ldc.2	+	9	1479	c.1194G>T	c.(1192-1194)GAG>GAT	p.E398D	KIAA0427_uc002ldd.2_Missense_Mutation_p.E400D|KIAA0427_uc002lde.3_Missense_Mutation_p.E27D	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	398	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						CCTTCATGGAGGAGGCCCAGA	0.587													T	46287883	G	T	46287883	3	4	84	1	0	0	0	0	1	0	0	0	8176	991	35	5	1230	5	KIAA0427	18	46287883	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1727532	46287883	31789365	1303	56846											
SMAD4	4089	broad.mit.edu	37	chr18	48575209	48575209	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatccatatcactacgaaCgagttgtatcacctggaatt	7	9	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:48575209C>T	uc010xdp.1	+	3	941	c.403C>T	c.(403-405)CGA>TGA	p.R135*	SMAD4_uc010xdo.1_RNA	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	135	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.R135*(4)|p.?(4)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCACTACGAACGAGTTGTATC	0.328									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				T	48575209	C	T	48575209	4	4	84	1	0	0	0	0	0	1	0	0	14760	528	19	1	409	1	SMAD4	18	48575209	Nonsense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2287326	48575209	29502039	1304	56847											
SMAD4	4089	broad.mit.edu	37	chr18	48591918	48591918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggacccttctggaggagatCgcttttgtttgggtcaactc	12	9	2	1	rs80338963		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:48591918C>T	uc010xdp.1	+	9	1619	c.1081C>T	c.(1081-1083)CGC>TGC	p.R361C	SMAD4_uc002lfb.3_Missense_Mutation_p.R206C	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	361	MH2.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in JPS).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.R361C(6)|p.R361H(3)|p.?(2)|p.R361S(1)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGAGGAGATCGCTTTTGTTT	0.413									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				T	48591918	C	T	48591918	3	4	84	1	0	0	0	0	1	0	0	0	14760	884	31	1	1111	1	SMAD4	18	48591918	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	16709	48591918	29485330	1305	56848											
MBD2	8932	broad.mit.edu	37	chr18	51686245	51686245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcttccaatttcttgcGtacttgctgtactcgctctt	6	12	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:51686245G>A	uc002lfg.1	-	6	1367	c.1138C>T	c.(1138-1140)CGC>TGC	p.R380C		NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2 isoform 1	380					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding				0				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	AATTTCTTGCGTACTTGCTGT	0.403													A	51686245	G	A	51686245	3	1	84	1	0	0	0	0	1	0	0	0	9343	1145	40	1	101	1	MBD2	18	51686245	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	3094327	51686245	26391003	1306	56849											
RAB27B	5874	broad.mit.edu	37	chr18	52544862	52544862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcaaactcctggccctcGgggattcaggggtggggaag	16	9	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:52544862G>A	uc002lfr.2	+	2	157	c.46G>A	c.(46-48)GGG>AGG	p.G16R		NM_004163	NP_004154	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	16	GTP.				protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity				0				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		CCTGGCCCTCGGGGATTCAGG	0.403													A	52544862	G	A	52544862	3	1	84	1	0	0	0	0	1	0	0	0	12915	1116	39	1	48	1	RAB27B	18	52544862	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	858617	52544862	25532386	1307	56850											
ZNF532	55205	broad.mit.edu	37	chr18	56587463	56587463	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgaagtaacgtgcaaccaTtgtacaaagaacctcgtttt	7	9	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:56587463T>C	uc002lho.2	+	4	2491	c.1944T>C	c.(1942-1944)CAT>CAC	p.H648H	ZNF532_uc002lhp.2_Silent_p.H646H|ZNF532_uc010xeg.1_Silent_p.H646H|ZNF532_uc002lhr.2_Silent_p.H646H|ZNF532_uc002lhs.2_Silent_p.H646H	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						CGTGCAACCATTGTACAAAGA	0.493													C	56587463	T	C	56587463	2	2	84	1	0	0	0	0	0	0	0	1	17969	1490	52	3		3	ZNF532	18	56587463	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	4042601	56587463	21489785	1308	56851											
MC4R	4160	broad.mit.edu	37	chr18	58039381	58039381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcttgttcttggctattgCcacaatcactaagatattct	5	9	4	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:58039381C>T	uc002lie.1	-	1	621	c.202G>A	c.(202-204)GCA>ACA	p.A68T		NM_005912	NP_005903	P32245	MC4R_HUMAN	melanocortin 4 receptor	68	Helical; Name=1; (Potential).				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			lung(1)	1		Colorectal(73;0.0946)				TTGGCTATTGCCACAATCACT	0.453													T	58039381	C	T	58039381	3	4	84	1	0	0	0	0	1	0	0	0	9366	739	26	2	800	2	MC4R	18	58039381	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1451918	58039381	20037867	1309	56852											
ZADH2	284273	broad.mit.edu	37	chr18	72913630	72913630	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcagatttcttgagcagtTtggctggcaatgttcctgct	12	8	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:72913630T>C	uc002llx.2	-	2	1143	c.875A>G	c.(874-876)AAA>AGA	p.K292R	ZADH2_uc010dqv.2_Missense_Mutation_p.K169R	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain	292						peroxisome	oxidoreductase activity|zinc ion binding				0		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		CTTGAGCAGTTTGGCTGGCAA	0.502													C	72913630	T	C	72913630	3	2	84	1	0	0	0	0	1	0	0	0	17508	1841	64	3	262	3	ZADH2	18	72913630	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	14874249	72913630	5163618	1310	56853											
ZNF516	9658	broad.mit.edu	37	chr18	74154511	74154511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgccttggcctcccccGgggcgcatgcggacccctct	12	20	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:74154511G>A	uc010dqx.1	-	2	735	c.500C>T	c.(499-501)CCG>CTG	p.P167L	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGCCTCCCCCGGGGCGCATGC	0.692													A	74154511	G	A	74154511	3	1	84	1	0	0	0	0	1	0	0	0	17957	1116	39	1	3012	1	ZNF516	18	74154511	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1240881	74154511	3922737	1311	56854											
GALR1	2587	broad.mit.edu	37	chr18	74962917	74962917	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaccgctacgtggccatcgTgcactcgcggcgctcctcct	12	17	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:74962917T>C	uc002lms.3	+	1	910	c.413T>C	c.(412-414)GTG>GCG	p.V138A		NM_001480	NP_001471	P47211	GALR1_HUMAN	galanin receptor 1	138	Cytoplasmic (Potential).				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			lung(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GTGGCCATCGTGCACTCGCGG	0.652													C	74962917	T	C	74962917	3	2	84	1	0	0	0	0	1	0	0	0	6227	1696	59	3	415	3	GALR1	18	74962917	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	808406	74962917	3114331	1312	56855											
PRSSL1	400668	broad.mit.edu	37	chr19	685738	685738	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcggcttctcctgggggcCtggtggtcccaggcaggggg	20	11	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:685738C>A	uc002lpl.1	-	5	861	c.830G>T	c.(829-831)AGG>ATG	p.R277M	PRSSL1_uc010xfs.1_Missense_Mutation_p.R276M	NM_214710	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine-like 1 precursor	277					proteolysis	extracellular region	serine-type endopeptidase activity				0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTGGGGGCCTGGTGGTCCC	0.682													A	685738	C	A	685738	3	1	84	1	0	0	0	0	1	0	0	0	12636	681	24	5	25	5	PRSSL1	19	685738	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08		685738	58443245	1313	56856											
PRTN3	5657	broad.mit.edu	37	chr19	847946	847946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgttccacgctgcgccgtGtggaggccaagggccgcccc	14	17	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:847946G>A	uc002lqa.1	+	5	772	c.748G>A	c.(748-750)GTG>ATG	p.V250M		NM_002777	NP_002768	P24158	PRTN3_HUMAN	myeloblastin	250					collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity			ovary(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCGCCGTGTGGAGGCCAA	0.657													A	847946	G	A	847946	3	1	84	1	0	0	0	0	1	0	0	0	12639	1377	48	4	766	4	PRTN3	19	847946	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	162208	847946	58281037	1314	56857											
WDR18	57418	broad.mit.edu	37	chr19	994293	994293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaacctgcgcaagatcaatCgggacctgttcgacttctcc	9	14	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:994293C>T	uc002lqm.1	+	10	1275	c.1249C>T	c.(1249-1251)CGG>TGG	p.R417W	WDR18_uc002lqn.1_RNA|WDR18_uc010drx.1_Missense_Mutation_p.R380W|WDR18_uc010dry.1_Missense_Mutation_p.R394W	NM_024100	NP_077005	Q9BV38	WDR18_HUMAN	WD repeat domain 18	417										skin(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGATCAATCGGGACCTGTT	0.701													T	994293	C	T	994293	3	4	84	1	0	0	0	0	1	0	0	0	17275	875	31	1	1287	1	WDR18	19	994293	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	146347	994293	58134690	1315	56858											
MIDN	90007	broad.mit.edu	37	chr19	1254309	1254309	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgctgcggccgccgccgcTgctgcgcggggggaccccag	18	18	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:1254309T>C	uc002lrp.2	+	5	1043	c.528T>C	c.(526-528)GCT>GCC	p.A176A		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	176						nucleolus					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCCGCCGCTGCTGCGCGGG	0.746													C	1254309	T	C	1254309	2	2	84	1	0	0	0	0	0	0	0	1	9579	1567	55	3		3	MIDN	19	1254309	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	260016	1254309	57874674	1316	56859											
PCSK4	54760	broad.mit.edu	37	chr19	1488236	1488236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgggcaccacgacagagCgtttcacccgccgctgcagc	12	17	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:1488236C>T	uc002ltb.1	-	3	400	c.338G>A	c.(337-339)CGC>CAC	p.R113H	PCSK4_uc002lta.2_5'UTR|REEP6_uc010xgp.1_5'Flank|REEP6_uc002ltc.2_5'Flank	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	113					proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGACAGAGCGTTTCACCCG	0.692													T	1488236	C	T	1488236	3	4	84	1	0	0	0	0	1	0	0	0	11602	768	27	1	1981	1	PCSK4	19	1488236	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	233927	1488236	57640747	1317	56860											
ZBTB7A	51341	broad.mit.edu	37	chr19	4048234	4048234	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgcatgtgcaccttcagcTtgtcctgcctgtggacgggg	13	13	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:4048234T>G	uc002lzh.2	-	3	1346	c.1271A>C	c.(1270-1272)AAG>ACG	p.K424T	ZBTB7A_uc002lzi.2_Missense_Mutation_p.K424T	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	424	C2H2-type 2.				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			pancreas(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCTTCAGCTTGTCCTGCCT	0.687													G	4048234	T	G	4048234	3	3	84	1	0	0	0	0	1	0	0	0	17550	1609	56	5	487	5	ZBTB7A	19	4048234	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	2559998	4048234	55080749	1318	56861											
MAP2K2	5605	broad.mit.edu	37	chr19	4099311	4099311	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagctctttggcgtcgggCggggggatggggtaccttcc	17	11	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:4099311C>T	uc002lzk.2	-	7	1061	c.807G>A	c.(805-807)CCG>CCA	p.P269P	MAP2K2_uc002lzj.2_Silent_p.P79P	NM_030662	NP_109587	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	269	Protein kinase.|Pro-rich.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCGTCGGGCGGGGGGATGG	0.687									Cardiofaciocutaneous_syndrome				T	4099311	C	T	4099311	2	4	84	1	0	0	0	0	0	0	0	1	9237	755	27	1		1	MAP2K2	19	4099311	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	51077	4099311	55029672	1319	56862											
PLIN3	10226	broad.mit.edu	37	chr19	4844784	4844784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaccagcttctgatcaaCgccttgcttgacagtttcca	6	14	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:4844784C>T	uc002mbj.2	-	7	1033	c.856G>A	c.(856-858)GTT>ATT	p.V286I	PLIN3_uc002mbk.2_Missense_Mutation_p.V274I|PLIN3_uc002mbl.3_Missense_Mutation_p.V286I	NM_005817	NP_005808	O60664	PLIN3_HUMAN	mannose 6 phosphate receptor binding protein 1	286					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding				0					Galsulfase(DB01279)|Idursulfase(DB01271)	TTCTGATCAACGCCTTGCTTG	0.602													T	4844784	C	T	4844784	3	4	84	1	0	0	0	0	1	0	0	0	12091	536	19	1	456	1	PLIN3	19	4844784	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	745473	4844784	54284199	1320	56863											
PTPRS	5802	broad.mit.edu	37	chr19	5218436	5218436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggataagtacatacctggaGtctggaagttaatgcgtctc	12	7	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:5218436G>A	uc002mbv.2	-	25	4277	c.4043C>T	c.(4042-4044)ACT>ATT	p.T1348I	PTPRS_uc002mbu.1_Missense_Mutation_p.T917I|PTPRS_uc010xin.1_Missense_Mutation_p.T917I|PTPRS_uc002mbw.2_Missense_Mutation_p.T1326I|PTPRS_uc002mbx.2_Missense_Mutation_p.T921I|PTPRS_uc002mby.2_Missense_Mutation_p.T917I	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1348	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CATACCTGGAGTCTGGAAGTT	0.587													A	5218436	G	A	5218436	3	1	84	1	0	0	0	0	1	0	0	0	12811	1029	36	4	1859	4	PTPRS	19	5218436	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	373652	5218436	53910547	1321	56864											
TMEM146	257062	broad.mit.edu	37	chr19	5778593	5778593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgtaggagatgcaagaCggtctgccagttcagggcct	15	9	2	2	rs137867416	by1000genomes	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:5778593C>T	uc002mda.2	+	22	2364	c.2303C>T	c.(2302-2304)ACG>ATG	p.T768M		NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	768	Cytoplasmic (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						AGATGCAAGACGGTCTGCCAG	0.657													T	5778593	C	T	5778593	3	4	84	1	0	0	0	0	1	0	0	0	16057	536	19	1	2389	1	TMEM146	19	5778593	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	560157	5778593	53350390	1322	56865											
NDUFA11	126328	broad.mit.edu	37	chr19	5896923	5896923	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccagcgtgctcacctgcagtGaacgtgtattgtccaacctt	9	13	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:5896923G>A	uc002mdq.1	-	2	489	c.183C>T	c.(181-183)TTC>TTT	p.F61F	FUT5_uc010duo.2_5'UTR|NDUFA11_uc002mdp.1_Silent_p.F61F|NDUFA11_uc002mdr.1_RNA	NM_175614	NP_783313	Q86Y39	NDUAB_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	61	Helical; (Potential).				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I	protein transporter activity			central_nervous_system(1)	1					NADH(DB00157)	CACCTGCAGTGAACGTGTATT	0.607													A	5896923	G	A	5896923	2	1	84	1	0	0	0	0	0	0	0	1	10261	1281	45	4		4	NDUFA11	19	5896923	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	118330	5896923	53232060	1323	56866											
PNPLA6	10908	broad.mit.edu	37	chr19	7619868	7619868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcgggccccacgcgcacCgtggagtggctaaatatgcg	16	13	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:7619868C>T	uc010xjq.1	+	24	2949	c.2754C>T	c.(2752-2754)ACC>ACT	p.T918T	PNPLA6_uc002mgq.1_Silent_p.T870T|PNPLA6_uc010xjp.1_Silent_p.T843T|PNPLA6_uc002mgr.1_Silent_p.T870T|PNPLA6_uc002mgs.2_Silent_p.T908T|PNPLA6_uc002mgt.1_RNA	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	909	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						CCACGCGCACCGTGGAGTGGC	0.672													T	7619868	C	T	7619868	2	4	84	1	0	0	0	0	0	0	0	1	12169	639	23	1		1	PNPLA6	19	7619868	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1722945	7619868	51509115	1324	56867											
XAB2	56949	broad.mit.edu	37	chr19	7688074	7688074	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcgtccagctgtccgttGtcctcataaaacttggcaaa	7	12	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:7688074G>A	uc002mgx.2	-	9	1247	c.1221C>T	c.(1219-1221)GAC>GAT	p.D407D		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	407	HAT 9.				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						GCTGTCCGTTGTCCTCATAAA	0.373								Direct_reversal_of_damage|NER					A	7688074	G	A	7688074	2	1	84	1	0	0	0	0	0	0	0	1	17415	1368	48	4		4	XAB2	19	7688074	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	68206	7688074	51440909	1325	56868											
LRRC8E	80131	broad.mit.edu	37	chr19	7960576	7960576	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggacgtgctggccgagTacctcaccgtggccatgctc	15	13	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:7960576T>C	uc002mir.2	+	2	189	c.88T>C	c.(88-90)TAC>CAC	p.Y30H		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	30	Helical; (Potential).					integral to membrane				lung(1)|pancreas(1)	2						GCTGGCCGAGTACCTCACCGT	0.637													C	7960576	T	C	7960576	3	2	84	1	0	0	0	0	1	0	0	0	9025	1638	57	3	90	3	LRRC8E	19	7960576	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	272502	7960576	51168407	1326	56869											
FBN3	84467	broad.mit.edu	37	chr19	8188452	8188452	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcgtgcagaggccagggAacaccttgcattcattcaca	11	12	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:8188452A>G	uc002mjf.2	-	23	2999	c.2978T>C	c.(2977-2979)TTC>TCC	p.F993S		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	993	EGF-like 12; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GAGGCCAGGGAACACCTTGCA	0.597													G	8188452	A	G	8188452	3	3	84	1	0	0	0	0	1	0	0	0	5704	246	9	3	5615	3	FBN3	19	8188452	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	227876	8188452	50940531	1327	56870											
FBN3	84467	broad.mit.edu	37	chr19	8196625	8196625	+	Frame_Shift_Del	DEL	C	C	-													ccatccgtgcctaccgccagCccccccaggcactggcagcg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:8196624_8196624GC>G	uc002mjf.3	-	13	1821	c.1804_1804GC>C	c.(1804-1806)ctgfs	p.L602fs		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	602	EGF-like 7; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTACCGCCAGCCCCCCCAGG	0.677													-	8196625	C	-	8196625	7	5	84	1	0	1	0	1	0	0	0	0	5704	726	26	0	6826	0	FBN3	19	8196625	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	8173	8196625	50932358	1328	56871											
MYO1F	4542	broad.mit.edu	37	chr19	8609293	8609293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggtctgctcccccgcccGtggcgtgcatggtggcgcac	14	16	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:8609293G>A	uc002mkg.2	-	14	1526	c.1412C>T	c.(1411-1413)ACG>ATG	p.T471M		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	471	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						TCCCCCGCCCGTGGCGTGCAT	0.672													A	8609293	G	A	8609293	3	1	84	1	0	0	0	0	1	0	0	0	10073	1145	40	1	1944	1	MYO1F	19	8609293	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	412668	8609293	50519690	1329	56872											
MUC16	94025	broad.mit.edu	37	chr19	9057815	9057815	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgctagtctccctgaatccAggagtcaatgagaatgttgg	12	8	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:9057815A>G	uc002mkp.2	-	3	29835	c.29631T>C	c.(29629-29631)CCT>CCC	p.P9877P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9879	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCCTGAATCCAGGAGTCAATG	0.488													G	9057815	A	G	9057815	2	3	84	1	0	0	0	0	0	0	0	1	9973	175	7	3		3	MUC16	19	9057815	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	448522	9057815	50071168	1330	56873											
ZNF317	57693	broad.mit.edu	37	chr19	9271302	9271302	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcgcacacaagagaacGcacaccggagagaggcccta	10	14	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:9271302G>A	uc002mku.2	+	7	1256	c.981G>A	c.(979-981)ACG>ACA	p.T327T	ZNF317_uc002mkv.2_Silent_p.T186T|ZNF317_uc002mkw.2_Silent_p.T295T|ZNF317_uc002mkx.2_Silent_p.T242T|ZNF317_uc002mky.2_Silent_p.T210T	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	327	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ACAAGAGAACGCACACCGGAG	0.582													A	9271302	G	A	9271302	2	1	84	1	0	0	0	0	0	0	0	1	17832	1074	38	1		1	ZNF317	19	9271302	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	213487	9271302	49857681	1331	56874											
ZNF317	57693	broad.mit.edu	37	chr19	9271423	9271423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacgcgtgcacgcagtgcGgcaaagccttccgctggaag	13	14	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:9271423G>A	uc002mku.2	+	7	1377	c.1102G>A	c.(1102-1104)GGC>AGC	p.G368S	ZNF317_uc002mkv.2_Missense_Mutation_p.G227S|ZNF317_uc002mkw.2_Missense_Mutation_p.G336S|ZNF317_uc002mkx.2_Missense_Mutation_p.G283S|ZNF317_uc002mky.2_Missense_Mutation_p.G251S	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	368	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CACGCAGTGCGGCAAAGCCTT	0.537													A	9271423	G	A	9271423	3	1	84	1	0	0	0	0	1	0	0	0	17832	1116	39	1	1124	1	ZNF317	19	9271423	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	121	9271423	49857560	1332	56875											
ANGPTL6	83854	broad.mit.edu	37	chr19	10204421	10204421	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaccatcttgcctccgcTggatcacagtccagcctcca	7	17	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:10204421T>A	uc002mmx.1	-	4	1017	c.899A>T	c.(898-900)CAG>CTG	p.Q300L	ANGPTL6_uc002mmy.1_Missense_Mutation_p.Q300L	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6 precursor	300	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding				0			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			TTGCCTCCGCTGGATCACAGT	0.577													A	10204421	T	A	10204421	3	1	84	1	0	0	0	0	1	0	0	0	618	1580	55	5	525	5	ANGPTL6	19	10204421	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	932998	10204421	48924562	1333	56876											
KEAP1	9817	broad.mit.edu	37	chr19	10599967	10599967	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtctctgtttccacatcgtAgcgctccacgctgttcagct	8	15	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:10599967A>G	uc002moq.1	-	5	1765	c.1609T>C	c.(1609-1611)TAC>CAC	p.Y537H	KEAP1_uc002mop.1_Intron|KEAP1_uc002mor.1_Missense_Mutation_p.Y537H	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	537	Kelch 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TCCACATCGTAGCGCTCCACG	0.577													G	10599967	A	G	10599967	3	3	84	1	0	0	0	0	1	0	0	0	8141	420	15	3	273	3	KEAP1	19	10599967	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	395546	10599967	48529016	1334	56877											
KRI1	65095	broad.mit.edu	37	chr19	10675651	10675653	+	In_Frame_Del	DEL	CTT	CTT	-													ttctgataaatgcgggggtcCttcttcttcaacaaggagag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:10675651_10675653delCTT	uc002moy.1	-	3	253_255	c.244_246delAAG	c.(244-246)AAGdel	p.K82del	KRI1_uc002mox.1_In_Frame_Del_p.K78del	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	82										ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGCGGGGGTCCTTCTTCTTCAAC	0.448											OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	10675653	CTT	-	10675651	7	5	84	1	0	1	0	1	0	0	0	0	8444	680	24	0	1951	0	KRI1	19	10675651	In_Frame_Del	DEL	CTT	TCGA-BR-8372-01A-11D-2340-08	75684	10675651	48453332	1335	56878											
ILF3	3609	broad.mit.edu	37	chr19	10781711	10781711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaagcattcttccgtttAtccaacacaagaggagctgg	10	10	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:10781711A>G	uc002mpn.2	+	3	382	c.65A>G	c.(64-66)TAT>TGT	p.Y22C	ILF3_uc002mpm.2_Missense_Mutation_p.Y22C|ILF3_uc002mpl.2_Missense_Mutation_p.Y22C|ILF3_uc002mpk.2_Missense_Mutation_p.Y22C|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Missense_Mutation_p.Y22C	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	22					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TCTTCCGTTTATCCAACACAA	0.483													G	10781711	A	G	10781711	3	3	84	1	0	0	0	0	1	0	0	0	7712	449	16	3	71	3	ILF3	19	10781711	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	106060	10781711	48347272	1336	56879											
QTRT1	81890	broad.mit.edu	37	chr19	10823521	10823521	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggccccatagacccggagTgcacctgccccacgtgccaa	10	18	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:10823521T>C	uc002mpr.2	+	8	974	c.949T>C	c.(949-951)TGC>CGC	p.C317R	DNM2_uc010dxk.2_5'Flank	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	317		Zinc (By similarity).			queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			skin(1)	1			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			AGACCCGGAGTGCACCTGCCC	0.647													C	10823521	T	C	10823521	3	2	84	1	0	0	0	0	1	0	0	0	12885	1696	59	3	979	3	QTRT1	19	10823521	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	41810	10823521	48305462	1337	56880											
CARM1	10498	broad.mit.edu	37	chr19	11015633	11015634	+	Frame_Shift_Ins	INS	-	-	TG													tcttctctcgtagatgaagaINStgtgtgtgtctttaagtgct							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:11015633_11015634insTG	uc002mpz.2	+	2	353_354	c.227_228insTG	c.(226-228)GATfs	p.D76fs	CARM1_uc010dxn.2_RNA	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	coactivator-associated arginine	76					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding				0						GTAGATGAAGATGTGTGTGTCT	0.589													TG	11015634	-	TG	11015633	7	5	84	1	0	1	1	0	0	0	0	0	2655	333	12	0	233	0	CARM1	19	11015633	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	192112	11015633	48113350	1338	56881	249	2									
CARM1	10498	broad.mit.edu	37	chr19	11015634	11015635	+	Frame_Shift_Ins	INS	-	-	TG													cttctctcgtagatgaagatINSgtgtgtgtctttaagtgctc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:11015633_11015634A>ATG	uc002mpz.3	+	1	353_354	c.227_228A>ATG	c.(226-228)gatfs	p.D76fs	CARM1_uc010dxn.3_Non-coding_Transcript	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA.	76					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GTAGATGAAGATGTGTGTGTCT	0.589													TG	11015635	-	TG	11015634	7	5	84	1	0	1	1	0	0	0	0	0	2655	1461	51	0	234	0	CARM1	19	11015634	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	1	11015634	48113349	1339	56882	249	2									
DOCK6	57572	broad.mit.edu	37	chr19	11363591	11363591	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggccggctcagaagtAcatcctcaaagtccaggggc	13	12	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:11363591A>G	uc002mqs.3	-	3	217	c.176T>C	c.(175-177)GTA>GCA	p.V59A		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	59					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						GCTCAGAAGTACATCCTCAAA	0.602													G	11363591	A	G	11363591	3	3	84	1	0	0	0	0	1	0	0	0	4691	391	14	3	6151	3	DOCK6	19	11363591	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	347957	11363591	47765392	1340	56883											
ZNF878	729747	broad.mit.edu	37	chr19	12155894	12155895	+	Frame_Shift_Ins	INS	-	-	CA													agacctatgccgatttctccINSacacacactgctttcatatg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:12155893_12155894C>CCA	uc021upl.1	-	3	488_489	c.322_323G>TGG	c.(322-324)ggafs	p.G108fs	ZNF878_uc002mta.1_Frame_Shift_Ins_p.G155fs	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GCCGATTTCTCCACACACACTG	0.426													CA	12155895	-	CA	12155894	7	5	84	1	0	1	1	0	0	0	0	0	18193	603	21	0	1277	0	ZNF878	19	12155894	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	792303	12155894	46973089	1341	56884											
ZNF442	79973	broad.mit.edu	37	chr19	12461809	12461809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgtactattatgtgtcttCgaaggtttcccgaagaactg	10	7	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:12461809C>T	uc002mtr.1	-	6	1201	c.590G>A	c.(589-591)CGA>CAA	p.R197Q	ZNF442_uc010xmk.1_Missense_Mutation_p.R128Q	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	197	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|breast(1)|kidney(1)	4						TATGTGTCTTCGAAGGTTTCC	0.403													T	12461809	C	T	12461809	3	4	84	1	0	0	0	0	1	0	0	0	17912	884	31	1	1297	1	ZNF442	19	12461809	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	305915	12461809	46667174	1342	56885											
ZNF799	90576	broad.mit.edu	37	chr19	12502011	12502011	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tacactgggataaacaaaggCtttcccacatatcttgcatt	6	10	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:12502011C>G	uc010dyt.2	-	4	1351	c.1201G>C	c.(1201-1203)GCC>CCC	p.A401P	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	401	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						TAAACAAAGGCTTTCCCACAT	0.428													G	12502011	C	G	12502011	3	3	84	1	0	0	0	0	1	0	0	0	18163	797	28	5	734	5	ZNF799	19	12502011	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	40202	12502011	46626972	1343	56886											
BEST2	54831	broad.mit.edu	37	chr19	12866252	12866252	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactatgactggattagcgtAcccctcgtgtacacgcaggt	10	12	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:12866252A>G	uc002mux.2	+	5	696	c.696A>G	c.(694-696)GTA>GTG	p.V232V		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	vitelliform macular dystrophy 2-like 1	232					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			ovary(1)|pancreas(1)	2						GGATTAGCGTACCCCTCGTGT	0.502													G	12866252	A	G	12866252	2	3	84	1	0	0	0	0	0	0	0	1	1405	378	14	3		3	BEST2	19	12866252	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	364241	12866252	46262731	1344	56887											
PRDX2	7001	broad.mit.edu	37	chr19	12911784	12911784	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcccagcacttcacagcccAgcttgcggaagtcctctgca	9	17	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:12911784A>G	uc002mvd.2	-	3	353	c.203T>C	c.(202-204)CTG>CCG	p.L68P	PRDX2_uc002mve.1_Missense_Mutation_p.L68P	NM_005809	NP_005800	P32119	PRDX2_HUMAN	peroxiredoxin 2 isoform a	68	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity				0						TTCACAGCCCAGCTTGCGGAA	0.438													G	12911784	A	G	12911784	3	3	84	1	0	0	0	0	1	0	0	0	12465	188	7	3	581	3	PRDX2	19	12911784	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	45532	12911784	46217199	1345	56888											
CACNA1A	773	broad.mit.edu	37	chr19	13410047	13410047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggcagccttccagcgctcGtccgggtccatttcgttata	10	13	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:13410047G>A	uc010dze.2	-	19	2639	c.2403C>T	c.(2401-2403)GAC>GAT	p.D801D	CACNA1A_uc010dzc.2_Silent_p.D326D|CACNA1A_uc002mwy.3_Silent_p.D800D|CACNA1A_uc010xne.1_Silent_p.D329D	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	801	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCCAGCGCTCGTCCGGGTCCA	0.627													A	13410047	G	A	13410047	2	1	84	1	0	0	0	0	0	0	0	1	2538	1136	40	1		1	CACNA1A	19	13410047	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	498263	13410047	45718936	1346	56889											
PKN1	5585	broad.mit.edu	37	chr19	14562741	14562741	+	Frame_Shift_Del	DEL	C	C	-													cctgggaccccagacagccgCccccccttcctgagccgccc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:14562740_14562740GC>G	uc002myp.3	+	6	1238	c.1070_1070GC>G	c.(1069-1071)cgcfs	p.R357fs	PKN1_uc002myq.3_Frame_Shift_Del_p.R363fs	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	357	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CCAGACAGCCGCCCCCCCTTC	0.672													-	14562741	C	-	14562741	7	5	84	1	0	1	0	1	0	0	0	0	11979	726	26	0	1140	0	PKN1	19	14562741	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	1152694	14562741	44566242	1347	56890											
EMR2	30817	broad.mit.edu	37	chr19	14883284	14883284	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aattttccgcatgacactttCgacagtgttgcacactcgtt	7	11	0	1	rs146183015	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:14883284C>A	uc002mzp.1	-	5	681	c.225G>T	c.(223-225)TCG>TCT	p.S75S	EMR2_uc010xnw.1_Silent_p.S75S|EMR2_uc002mzo.1_Silent_p.S75S|EMR2_uc002mzq.1_Silent_p.S75S|EMR2_uc002mzr.1_Silent_p.S75S|EMR2_uc002mzs.1_Silent_p.S75S|EMR2_uc002mzt.1_Silent_p.S75S|EMR2_uc002mzu.1_Silent_p.S75S|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	75	Extracellular (Potential).|EGF-like 2; calcium-binding.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4						ATGACACTTTCGACAGTGTTG	0.537													A	14883284	C	A	14883284	2	1	84	1	0	0	0	0	0	0	0	1	5105	871	31	5		5	EMR2	19	14883284	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	320543	14883284	44245699	1348	56891											
OR7C1	26664	broad.mit.edu	37	chr19	14910414	14910414	+	Frame_Shift_Del	DEL	A	A	-													caggacttcaagtagatcacAaaaaaagtgtggaatttcca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:14910413_14910413CA>C	uc010xnz.2	-	0	536	c.536_536TG>G	c.(535-537)tgtfs	p.C179fs		NM_198944	NP_945182	O76099	OR7C1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA.	179					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	p.C179fs*7(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AAGTAGATCACAAAAAAAGTG	0.478													-	14910414	A	-	14910414	7	5	84	1	0	1	0	1	0	0	0	0	11217	130	5	0	429	0	OR7C1	19	14910414	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	27130	14910414	44218569	1349	56892											
SYDE1	85360	broad.mit.edu	37	chr19	15222547	15222547	+	Frame_Shift_Del	DEL	C	C	-													gggaccccccaaacagagttCcccccaccactgagggcacc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:15222547delC	uc002nah.1	+	6	1553	c.1522delC	c.(1522-1524)CCCfs	p.P508fs	SYDE1_uc002nai.1_Frame_Shift_Del_p.P441fs|SYDE1_uc002naj.1_Frame_Shift_Del_p.P165fs	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1	508	Rho-GAP.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|pancreas(1)	2						AAACAGAGTTCCCCCCACCAC	0.617													-	15222547	C	-	15222547	7	5	84	1	0	1	0	1	0	0	0	0	15432	855	30	0	1544	0	SYDE1	19	15222547	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	312133	15222547	43906436	1350	56893											
AKAP8	10270	broad.mit.edu	37	chr19	15483910	15483910	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgaaggggtcgctgcgcaTgaaggtgccagggttgctcc	16	11	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:15483910T>C	uc002nav.2	-	5	674	c.613A>G	c.(613-615)ATG>GTG	p.M205V	AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_Missense_Mutation_p.M19V	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	205					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						TCGCTGCGCATGAAGGTGCCA	0.711													C	15483910	T	C	15483910	3	2	84	1	0	0	0	0	1	0	0	0	457	1464	51	3	1505	3	AKAP8	19	15483910	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	261363	15483910	43645073	1351	56894											
WIZ	58525	broad.mit.edu	37	chr19	15535043	15535043	+	Frame_Shift_Del	DEL	G	G	-													gaacttgacaagtgatgtctGggggggccggggcaccaggg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:15535043delG	uc002nbc.2	-	7	2721	c.2698delC	c.(2698-2700)CAGfs	p.Q900fs	WIZ_uc002nba.3_Frame_Shift_Del_p.Q767fs|WIZ_uc002nbb.3_Frame_Shift_Del_p.Q726fs	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	1583						nucleus	zinc ion binding				0						AGTGATGTCTGGGGGGGCCGG	0.647													-	15535043	G	-	15535043	7	5	84	1	0	1	0	1	0	0	0	0	17372	1357	47	0	216	0	WIZ	19	15535043	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	51133	15535043	43593940	1352	56895											
CYP4F3	4051	broad.mit.edu	37	chr19	15770043	15770043	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccaaggaactgcatcgggCaggcgttcgcgatggcggag	16	12	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:15770043C>A	uc002nbj.2	+	13	1461	c.1411C>A	c.(1411-1413)CAG>AAG	p.Q471K	CYP4F3_uc010xok.1_Missense_Mutation_p.Q471K|CYP4F3_uc010xol.1_Missense_Mutation_p.Q471K|CYP4F3_uc010xom.1_Missense_Mutation_p.Q322K|CYP4F3_uc002nbk.2_Missense_Mutation_p.Q471K|CYP4F3_uc010xon.1_Missense_Mutation_p.Q181K	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	471					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3						CTGCATCGGGCAGGCGTTCGC	0.667													A	15770043	C	A	15770043	3	1	84	1	0	0	0	0	1	0	0	0	4190	711	25	5	1457	5	CYP4F3	19	15770043	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	235000	15770043	43358940	1353	56896											
CYP4F11	57834	broad.mit.edu	37	chr19	16025591	16025591	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttggggatgacgcggccGtctgggagcacaaagtcctg	15	11	1	1	rs150098509	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:16025591G>A	uc002nbu.2	-	10	1266	c.1230C>T	c.(1228-1230)GAC>GAT	p.D410D	CYP4F11_uc010eab.1_Silent_p.D410D|CYP4F11_uc002nbt.2_Silent_p.D410D	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	410					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1						TGACGCGGCCGTCTGGGAGCA	0.637													A	16025591	G	A	16025591	2	1	84	1	0	0	0	0	0	0	0	1	4186	1136	40	1		1	CYP4F11	19	16025591	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	255548	16025591	43103392	1354	56897											
SIN3B	23309	broad.mit.edu	37	chr19	16989392	16989392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacaatgtgacggtggagGcggctagcctggtgcaggac	18	8	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:16989392G>A	uc002ney.1	+	20	3357	c.3343G>A	c.(3343-3345)GCG>ACG	p.A1115T	SIN3B_uc002nez.1_Missense_Mutation_p.A1083T|SIN3B_uc010xpi.1_Missense_Mutation_p.A673T|SIN3B_uc010eaj.1_Missense_Mutation_p.A51T	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	1115					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						GACGGTGGAGGCGGCTAGCCT	0.647													A	16989392	G	A	16989392	3	1	84	1	0	0	0	0	1	0	0	0	14326	1203	42	2	3421	2	SIN3B	19	16989392	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	963801	16989392	42139591	1355	56898											
GTPBP3	84705	broad.mit.edu	37	chr19	17448849	17448849	+	Frame_Shift_Del	DEL	C	C	-													ccggagcagcggcgcaccagCccccggctccggcgccacca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:17448849delC	uc010eas.2	+	2	151	c.86delC	c.(85-87)GCCfs	p.A29fs	GTPBP3_uc010xpo.1_Frame_Shift_Del_p.A51fs|GTPBP3_uc010eaq.1_RNA|GTPBP3_uc010ear.1_RNA|GTPBP3_uc002ngh.3_Frame_Shift_Del_p.A29fs|GTPBP3_uc002ngg.3_Frame_Shift_Del_p.A29fs|GTPBP3_uc002ngi.3_5'UTR	NM_032620	NP_116009	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial) isoform V	29					tRNA modification	mitochondrion	GTP binding|GTPase activity			skin(1)	1						GGCGCACCAGCCCCCGGCTCC	0.711													-	17448849	C	-	17448849	7	5	84	1	0	1	0	1	0	0	0	0	6881	739	26	0	92	0	GTPBP3	19	17448849	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	459457	17448849	41680134	1356	56899											
PIK3R2	5296	broad.mit.edu	37	chr19	18277087	18277087	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acctggagcgcttccggcgtGagggcaacgagaaagagatg	16	9	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:18277087G>A	uc002nia.1	+	12	2046	c.1534G>A	c.(1534-1536)GAG>AAG	p.E512K	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	512					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						CTTCCGGCGTGAGGGCAACGA	0.473													A	18277087	G	A	18277087	3	1	84	1	0	0	0	0	1	0	0	0	11919	1291	45	4	1576	4	PIK3R2	19	18277087	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	828238	18277087	40851896	1357	56900											
LRRC25	126364	broad.mit.edu	37	chr19	18507103	18507103	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttggggcttgggggcgctcCggctgccgtaccgtggctgc	18	13	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:18507103C>A	uc002niw.2	-	1	1313	c.671G>T	c.(670-672)CGG>CTG	p.R224L	LRRC25_uc002nix.2_Missense_Mutation_p.R224L	NM_145256	NP_660299	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25 precursor	224	Cytoplasmic (Potential).					integral to membrane					0						GGGGGCGCTCCGGCTGCCGTA	0.657													A	18507103	C	A	18507103	3	1	84	1	0	0	0	0	1	0	0	0	8980	652	23	5	254	5	LRRC25	19	18507103	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	230016	18507103	40621880	1358	56901											
ELL	8178	broad.mit.edu	37	chr19	18561504	18561504	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtgggggctggggcagcCgcctctccgtgctcacagtc	15	14	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:18561504C>T	uc002njh.2	-	8	1320	c.1248G>A	c.(1246-1248)GCG>GCA	p.A416A	ELL_uc010ebq.2_Silent_p.A359A|ELL_uc002njg.2_Silent_p.A283A	NM_006532	NP_006523	P55199	ELL_HUMAN	elongation factor RNA polymerase II	416					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			lung(1)	1				GBM - Glioblastoma multiforme(1328;7.81e-07)		CTGGGGCAGCCGCCTCTCCGT	0.736			T	MLL	AL								T	18561504	C	T	18561504	2	4	84	1	0	0	0	0	0	0	0	1	5062	639	23	1		1	ELL	19	18561504	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	54401	18561504	40567479	1359	56902											
UBA52	7311	broad.mit.edu	37	chr19	18684198	18684198	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaatgtcaaagccaaaAttcaagacaaggagggtgag	12	5	2	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:18684198A>T	uc002njr.2	+	2	202	c.88A>T	c.(88-90)ATT>TTT	p.I30F	UBA52_uc002njs.2_Missense_Mutation_p.I30F|UBA52_uc002njt.2_Missense_Mutation_p.I30F	NM_001033930	NP_001029102	P62987	RL40_HUMAN	ubiquitin and ribosomal protein L40 precursor	30	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome				0						CAAAGCCAAAATTCAAGACAA	0.547													T	18684198	A	T	18684198	3	4	84	1	0	0	0	0	1	0	0	0	16828	101	4	5	90	5	UBA52	19	18684198	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	122694	18684198	40444785	1360	56903											
UBA52	7311	broad.mit.edu	37	chr19	18684544	18684546	+	In_Frame_Del	DEL	ACA	ACA	-													tggccgcactctctcagactAcaacatccagaaaggtaccg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:18684543_18684545TACA>T	uc002njr.3	+	2	289_291	c.175_177TACA>T	c.(175-177)tac>T	p.Y59del	UBA52_uc002njs.3_In_Frame_Del_p.Y59del|UBA52_uc021uqs.1_5'Flank	NM_001033930	NP_003324	P62987	RL40_HUMAN	Homo sapiens ubiquitin A-52 residue ribosomal protein fusion product 1 (UBA52), transcript variant 1, mRNA.	59	Ubiquitin-like.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						TCTCTCAGACTACAACATCCAGA	0.596													-	18684546	ACA	-	18684544	7	5	84	1	0	1	0	1	0	0	0	0	16828	391	14	0	182	0	UBA52	19	18684544	In_Frame_Del	DEL	ACA	TCGA-BR-8372-01A-11D-2340-08	346	18684544	40444439	1361	56904											
ARMC6	93436	broad.mit.edu	37	chr19	19166111	19166111	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgagcaccctgcgagccaTcgcaggcaacgacgacgtga	13	14	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:19166111T>C	uc002nld.2	+	7	1409	c.1061T>C	c.(1060-1062)ATC>ACC	p.I354T	ARMC6_uc002nlc.2_Missense_Mutation_p.I329T|ARMC6_uc010xql.1_Missense_Mutation_p.I261T|ARMC6_uc002nle.2_Missense_Mutation_p.I329T|ARMC6_uc010xqm.1_Missense_Mutation_p.I354T	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	354	ARM 3.						protein binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CTGCGAGCCATCGCAGGCAAC	0.627													C	19166111	T	C	19166111	3	2	84	1	0	0	0	0	1	0	0	0	955	1435	50	3	1004	3	ARMC6	19	19166111	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	481567	19166111	39962872	1362	56905											
ZNF506	440515	broad.mit.edu	37	chr19	19905493	19905493	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttaaaagctttgccacaTtcttcacatttgtacggttt	6	9	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:19905493T>C	uc010eci.2	-	4	1351	c.1203A>G	c.(1201-1203)GAA>GAG	p.E401E	ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Silent_p.E369E	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	zinc finger protein 506 isoform 1	401	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding				0						CTTTGCCACATTCTTCACATT	0.358													C	19905493	T	C	19905493	2	2	84	1	0	0	0	0	0	0	0	1	17949	1490	52	3		3	ZNF506	19	19905493	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	739382	19905493	39223490	1363	56906											
ZNF430	80264	broad.mit.edu	37	chr19	21203611	21203611	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctggaagcctagaaatggTgagagtgccgggtccgacat	14	10	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:21203611T>C	uc002npj.2	+	1	113	c.3_splice	c.e1+2	p.M1_splice	ZNF430_uc002npk.2_Splice_Site_p.M1_splice	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2						CTAGAAATGGTGAGAGTGCCG	0.622													C	21203611	T	C	21203611	5	2	84	1	0	0	0	0	0	0	1	0	17901	1710	59	3	7	3	ZNF430	19	21203611	Splice_Site	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1298118	21203611	37925372	1364	56907											
ZNF429	353088	broad.mit.edu	37	chr19	21720712	21720712	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaattcatactagagagaaAccttacaaatgtgaagaatg	7	5	1	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:21720712A>G	uc002nqd.1	+	4	1994	c.1857A>G	c.(1855-1857)AAA>AAG	p.K619K	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	619					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CTAGAGAGAAACCTTACAAAT	0.318													G	21720712	A	G	21720712	2	3	84	1	0	0	0	0	0	0	0	1	17899	40	2	3		3	ZNF429	19	21720712	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	517101	21720712	37408271	1365	56908											
ZNF208	7757	broad.mit.edu	37	chr19	22154210	22154210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgatatctaagggttgagGgccacttataggctttgcca	12	7	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:22154210G>A	uc002nqp.2	-	6	3391	c.3242C>T	c.(3241-3243)CCC>CTC	p.P1081L	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAGGGTTGAGGGCCACTTATA	0.378													A	22154210	G	A	22154210	3	1	84	1	0	0	0	0	1	0	0	0	17763	1232	43	4	220	4	ZNF208	19	22154210	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	433498	22154210	36974773	1366	56909											
ZNF208	7757	broad.mit.edu	37	chr19	22157496	22157496	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacattggtataaccaatttTtaagtgtaaattctcatgtc	5	7	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:22157496T>G	uc002nqp.2	-	4	489	c.340A>C	c.(340-342)AAA>CAA	p.K114Q	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAACCAATTTTTAAGTGTAAA	0.353													G	22157496	T	G	22157496	3	3	84	1	0	0	0	0	1	0	0	0	17763	1850	64	5	3506	5	ZNF208	19	22157496	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	3286	22157496	36971487	1367	56910											
WDR88	126248	broad.mit.edu	37	chr19	33663258	33663258	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgctatttgttttaggataGgaccatgagactgtggaata	11	4	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:33663258G>T	uc002nui.2	+	10	1232	c.1154G>T	c.(1153-1155)AGG>ATG	p.R385M		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	385	WD 7.									ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					TTTTAGGATAGGACCATGAGA	0.264													T	33663258	G	T	33663258	3	4	84	1	0	0	0	0	1	0	0	0	17332	1000	35	5	1192	5	WDR88	19	33663258	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	11505762	33663258	25465725	1368	56911											
DMKN	93099	broad.mit.edu	37	chr19	35989795	35989796	+	Frame_Shift_Ins	INS	-	-	C													cgaggaagaaggtgagactcINSccccctgcaaaaagatcaaa							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:35989794_35989795T>TC	uc002nzm.4	-	13	1547_1548	c.1364_1365A>GA	c.(1363-1365)ggafs	p.G455fs	DMKN_uc002nzi.4_Frame_Shift_Ins_p.G69fs|DMKN_uc002nzj.3_Frame_Shift_Ins_p.G143fs|DMKN_uc002nzl.4_Frame_Shift_Ins_p.G168fs|DMKN_uc002nzk.4_Frame_Shift_Ins_p.G116fs|DMKN_uc002nzo.4_Frame_Shift_Ins_p.G444fs|DMKN_uc002nzn.4_Frame_Shift_Ins_p.G428fs|DMKN_uc002nzu.2_Frame_Shift_Ins_p.G116fs|DMKN_uc002nzv.2_Frame_Shift_Ins_p.G102fs|DMKN_uc002nzw.2_Frame_Shift_Ins_p.G125fs|DMKN_uc002nzq.2_Frame_Shift_Ins_p.G131fs|DMKN_uc002nzp.2_Frame_Shift_Ins_p.G149fs|DMKN_uc002nzr.2_Frame_Shift_Ins_p.G111fs|DMKN_uc002nzs.2_Frame_Shift_Ins_p.G102fs|DMKN_uc002nzt.2_Frame_Shift_Ins_p.G102fs	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	Homo sapiens dermokine (DMKN), transcript variant 2, mRNA.	455						extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AAGGTGAGACTCCCCCCTGCAA	0.594													C	35989796	-	C	35989795	7	5	84	1	0	1	1	0	0	0	0	0	4582	855	30	0	74	0	DMKN	19	35989795	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	2326537	35989795	23139188	1369	56912											
RBM42	79171	broad.mit.edu	37	chr19	36128416	36128416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggaatctggacgtggtccGcaagaagcagaaggaaaaga	14	8	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:36128416G>A	uc002oan.2	+	10	1479	c.1403G>A	c.(1402-1404)CGC>CAC	p.R468H	RBM42_uc010eef.2_Missense_Mutation_p.R414H|RBM42_uc002oao.2_Missense_Mutation_p.R446H|RBM42_uc002oap.2_Missense_Mutation_p.R438H|RBM42_uc002oaq.2_Missense_Mutation_p.R439H|RBM42_uc010eeg.2_Missense_Mutation_p.R374H	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	468	Necessary for interaction with HNRNPK (By similarity).					cytoplasm|nucleus	nucleotide binding|RNA binding				0	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GACGTGGTCCGCAAGAAGCAG	0.612													A	36128416	G	A	36128416	3	1	84	1	0	0	0	0	1	0	0	0	13136	1087	38	1	1441	1	RBM42	19	36128416	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	138621	36128416	23000567	1370	56913											
APLP1	333	broad.mit.edu	37	chr19	36370291	36370291	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagctccgcgaactgcAgcggcacggctatgagaacc	13	14	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:36370291A>G	uc002oce.2	+	17	2039	c.1901A>G	c.(1900-1902)CAG>CGG	p.Q634R	APLP1_uc010xsz.1_Missense_Mutation_p.Q595R|APLP1_uc002ocf.2_Missense_Mutation_p.Q635R|APLP1_uc002ocg.2_Missense_Mutation_p.Q538R|APLP1_uc010xta.1_Missense_Mutation_p.Q628R	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	634	Cytoplasmic (Potential).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			ovary(2)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGCGAACTGCAGCGGCACGGC	0.672													G	36370291	A	G	36370291	3	3	84	1	0	0	0	0	1	0	0	0	778	188	7	3	1970	3	APLP1	19	36370291	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	241875	36370291	22758692	1371	56914											
HKR1	284459	broad.mit.edu	37	chr19	37853830	37853830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcattacccaccagagggCgcacactggggagaagcctt	11	14	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:37853830C>T	uc002ogb.2	+	6	1402	c.1133C>T	c.(1132-1134)GCG>GTG	p.A378V	HKR1_uc002ofx.2_Missense_Mutation_p.A94V|HKR1_uc002ofy.2_Missense_Mutation_p.A94V|HKR1_uc002oga.2_Missense_Mutation_p.A360V|HKR1_uc010xto.1_Missense_Mutation_p.A360V|HKR1_uc002ogc.2_Missense_Mutation_p.A359V|HKR1_uc010xtp.1_Missense_Mutation_p.A317V|HKR1_uc002ogd.2_Missense_Mutation_p.A317V	NM_181786	NP_861451	P10072	HKR1_HUMAN	GLI-Kruppel family member HKR1	378	C2H2-type 3.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACCAGAGGGCGCACACTGGG	0.527													T	37853830	C	T	37853830	3	4	84	1	0	0	0	0	1	0	0	0	7194	768	27	1	1147	1	HKR1	19	37853830	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1483539	37853830	21275153	1372	56915											
SIPA1L3	23094	broad.mit.edu	37	chr19	38590640	38590640	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatcctggaagatgctacGcccacagccaccaagcatgg	9	15	0	1	rs142598144		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:38590640G>A	uc002ohk.2	+	5	2213	c.1704G>A	c.(1702-1704)ACG>ACA	p.T568T		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	568					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAGATGCTACGCCCACAGCCA	0.607													A	38590640	G	A	38590640	2	1	84	1	0	0	0	0	0	0	0	1	14331	1074	38	1		1	SIPA1L3	19	38590640	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	736810	38590640	20538343	1373	56916											
SIPA1L3	23094	broad.mit.edu	37	chr19	38621275	38621275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggcaggccggcctccgGcagggcagccgactagtgga	17	14	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:38621275G>A	uc002ohk.2	+	10	3515	c.3006G>A	c.(3004-3006)CGG>CGA	p.R1002R		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1002	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCGGCCTCCGGCAGGGCAGCC	0.652													A	38621275	G	A	38621275	2	1	84	1	0	0	0	0	0	0	0	1	14331	1190	42	2		2	SIPA1L3	19	38621275	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	30635	38621275	20507708	1374	56917											
SIPA1L3	23094	broad.mit.edu	37	chr19	38692591	38692591	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgtccacagccacctgAgcctggagaggggacccccg	13	16	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:38692591A>G	uc002ohk.2	+	20	5583	c.5074A>G	c.(5074-5076)AGC>GGC	p.S1692G		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1692					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGCCACCTGAGCCTGGAGAG	0.652													G	38692591	A	G	38692591	3	3	84	1	0	0	0	0	1	0	0	0	14331	304	11	3	5144	3	SIPA1L3	19	38692591	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	71316	38692591	20436392	1375	56918											
PPP1R14A	94274	broad.mit.edu	37	chr19	38746893	38746893	+	Frame_Shift_Del	DEL	C	C	-													cgcgcgtgccgcttctgcagCcccccgggactgccccctgg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:38746893delC	uc002ohq.2	-	1	280	c.87delG	c.(85-87)GGGfs	p.G29fs	PPP1R14A_uc010efv.2_Frame_Shift_Del_p.G29fs	NM_033256	NP_150281	Q96A00	PP14A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	29					regulation of phosphorylation	cytoplasm	protein binding|protein phosphatase inhibitor activity				0	all_cancers(60;9.57e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCTTCTGCAGCCCCCCGGGAC	0.726													-	38746893	C	-	38746893	7	5	84	1	0	1	0	1	0	0	0	0	12359	726	26	0	372	0	PPP1R14A	19	38746893	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	54302	38746893	20382090	1376	56919											
ACTN4	81	broad.mit.edu	37	chr19	39207889	39207889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggagatcaacttcaacaCgctgcagaccaagctgcgcc	10	14	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:39207889C>T	uc002oja.1	+	10	1135	c.1076C>T	c.(1075-1077)ACG>ATG	p.T359M	ACTN4_uc010egc.1_Missense_Mutation_p.T359M	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	359	Spectrin 1.			TL -> SV (in Ref. 3; AAC17470).	platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AACTTCAACACGCTGCAGACC	0.617													T	39207889	C	T	39207889	3	4	84	1	0	0	0	0	1	0	0	0	207	536	19	1	1114	1	ACTN4	19	39207889	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	460996	39207889	19921094	1377	56920											
FCGBP	8857	broad.mit.edu	37	chr19	40366349	40366349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccatccagcgggcttccCgcccacagccttgaggtcgt	11	17	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:40366349C>T	uc002omp.3	-	30	13893	c.13885G>A	c.(13885-13887)GGG>AGG	p.G4629R		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4629	VWFD 11.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCGGGCTTCCCGCCCACAGCC	0.692													T	40366349	C	T	40366349	3	4	84	1	0	0	0	0	1	0	0	0	5778	652	23	1	2360	1	FCGBP	19	40366349	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1158460	40366349	18762634	1378	56921											
FCGBP	8857	broad.mit.edu	37	chr19	40421304	40421304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccggccgtcgaagctcaCatagtgtgggtccccggacc	14	15	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:40421304C>T	uc002omp.3	-	5	2625	c.2617G>A	c.(2617-2619)GTG>ATG	p.V873M		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	873	VWFD 2.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGAAGCTCACATAGTGTGGG	0.692													T	40421304	C	T	40421304	3	4	84	1	0	0	0	0	1	0	0	0	5778	478	17	4	13728	4	FCGBP	19	40421304	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	54955	40421304	18707679	1379	56922											
SPTBN4	57731	broad.mit.edu	37	chr19	41026037	41026037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgggatctacgccaggcGctcgtggtgctgcgtaacca	14	13	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:41026037G>A	uc002ony.2	+	16	3719	c.3633G>A	c.(3631-3633)GCG>GCA	p.A1211A	SPTBN4_uc002onx.2_Silent_p.A1211A|SPTBN4_uc002onz.2_Silent_p.A1211A|SPTBN4_uc010egx.2_5'UTR	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1211	Spectrin 10.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TACGCCAGGCGCTCGTGGTGC	0.657													A	41026037	G	A	41026037	2	1	84	1	0	0	0	0	0	0	0	1	15120	1074	38	1		1	SPTBN4	19	41026037	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	604733	41026037	18102946	1380	56923											
AXL	558	broad.mit.edu	37	chr19	41726645	41726645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccaggttcagggagagCcccccgaggtacattggctt	13	12	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:41726645C>T	uc010ehj.2	+	2	380	c.190C>T	c.(190-192)CCC>TCC	p.P64S	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.P64S|AXL_uc010ehk.2_Missense_Mutation_p.P64S	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	64	Extracellular (Potential).|Interaction with GAS6.|Ig-like C2-type 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						TCAGGGAGAGCCCCCCGAGGT	0.622													T	41726645	C	T	41726645	3	4	84	1	0	0	0	0	1	0	0	0	1238	739	26	2	196	2	AXL	19	41726645	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	700608	41726645	17402338	1381	56924											
BCKDHA	593	broad.mit.edu	37	chr19	41920016	41920016	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcacgtggggagtgccgcCgccctggacaacacggacct	14	15	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:41920016C>T	uc002oqq.2	+	4	467	c.438C>T	c.(436-438)GCC>GCT	p.A146A	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Silent_p.A180A|BCKDHA_uc002oqp.1_Silent_p.A38A|BCKDHA_uc002oqr.2_Silent_p.A146A|BCKDHA_uc010xvz.1_Silent_p.A124A	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	146					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0						GGAGTGCCGCCGCCCTGGACA	0.607													T	41920016	C	T	41920016	2	4	84	1	0	0	0	0	0	0	0	1	1359	639	23	1		1	BCKDHA	19	41920016	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	193371	41920016	17208967	1382	56925											
ARHGEF1	9138	broad.mit.edu	37	chr19	42402713	42402713	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgcccaagagccaggTgaagcggcaggaggtcatca	14	12	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:42402713T>C	uc002orx.2	+	14	1353	c.1244T>C	c.(1243-1245)GTG>GCG	p.V415A	ARHGEF1_uc002ory.2_Missense_Mutation_p.V382A|ARHGEF1_uc002orz.2_Missense_Mutation_p.V253A|ARHGEF1_uc002osa.2_Missense_Mutation_p.V430A|ARHGEF1_uc002osb.2_Missense_Mutation_p.V397A|ARHGEF1_uc002osc.2_Missense_Mutation_p.V169A|ARHGEF1_uc002osd.2_Missense_Mutation_p.V74A	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	415					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		AAGAGCCAGGTGAAGCGGCAG	0.652													C	42402713	T	C	42402713	3	2	84	1	0	0	0	0	1	0	0	0	893	1696	59	3	1343	3	ARHGEF1	19	42402713	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	482697	42402713	16726270	1383	56926											
ZNF574	64763	broad.mit.edu	37	chr19	42584319	42584319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcacacacacaggggagCggcccttcccctgccctgac	11	18	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:42584319C>T	uc002osm.3	+	2	1730	c.1561C>T	c.(1561-1563)CGG>TGG	p.R521W	ZNF574_uc002osk.3_Missense_Mutation_p.R611W	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				CACAGGGGAGCGGCCCTTCCC	0.617													T	42584319	C	T	42584319	3	4	84	1	0	0	0	0	1	0	0	0	18003	759	27	1	1563	1	ZNF574	19	42584319	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	181606	42584319	16544664	1384	56927											
CIC	23152	broad.mit.edu	37	chr19	42796883	42796883	+	Frame_Shift_Del	DEL	C	C	-													cctggcccagccatcccaggCccccccaagcctggtctaca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:42796883delC	uc002otf.1	+	14	3381	c.3341delC	c.(3340-3342)GCCfs	p.A1114fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1114	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CCATCCCAGGCCCCCCCAAGC	0.682			T	DUX4	soft tissue sarcoma								-	42796883	C	-	42796883	7	5	84	1	0	1	0	1	0	0	0	0	3424	739	26	0	3395	0	CIC	19	42796883	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	212564	42796883	16332100	1385	56928											
PSG2	5670	broad.mit.edu	37	chr19	43579581	43579581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacattcatagggtcctgCagtatactttgtgacaccaa	7	10	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:43579581C>T	uc002ovr.2	-	3	727	c.634G>A	c.(634-636)GCA>ACA	p.A212T	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.A212T|PSG2_uc010eiq.1_Missense_Mutation_p.A212T|PSG2_uc002ovs.3_Missense_Mutation_p.A212T|PSG2_uc002ovt.3_Missense_Mutation_p.A212T	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	212	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)				TAGGGTCCTGCAGTATACTTT	0.507													T	43579581	C	T	43579581	3	4	84	1	0	0	0	0	1	0	0	0	12655	710	25	2	385	2	PSG2	19	43579581	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	782698	43579581	15549402	1386	56929											
TEX101	83639	broad.mit.edu	37	chr19	43922422	43922422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccatgtttgtgagggaagCgtgcccacatcagctgctca	11	12	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:43922422C>T	uc010xwo.1	+	6	818	c.623C>T	c.(622-624)GCG>GTG	p.A208V	TEX101_uc002owk.2_Missense_Mutation_p.A226V	NM_001130011	NP_001123483	Q9BY14	TX101_HUMAN	testis expressed 101 isoform 2	208						anchored to membrane|plasma membrane				ovary(1)	1		Prostate(69;0.0199)				GTGAGGGAAGCGTGCCCACAT	0.532													T	43922422	C	T	43922422	3	4	84	1	0	0	0	0	1	0	0	0	15770	768	27	1	699	1	TEX101	19	43922422	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	342841	43922422	15206561	1387	56930											
IRGC	56269	broad.mit.edu	37	chr19	44222940	44222940	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcaatgccctgcgtggccTggaggccgaggaccctggcg	15	14	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:44222940T>C	uc002oxh.2	+	2	377	c.230T>C	c.(229-231)CTG>CCG	p.L77P		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	77						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.0435)				CTGCGTGGCCTGGAGGCCGAG	0.682													C	44222940	T	C	44222940	3	2	84	1	0	0	0	0	1	0	0	0	7838	1580	55	3	232	3	IRGC	19	44222940	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	300518	44222940	14906043	1388	56931											
ZNF226	7769	broad.mit.edu	37	chr19	44676323	44676323	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcccagaggaagctgtAccgagatgtgatggtggaga	15	9	0	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:44676323A>G	uc002oyp.2	+	4	242	c.98A>G	c.(97-99)TAC>TGC	p.Y33C	ZNF226_uc002oyn.2_Missense_Mutation_p.Y33C|ZNF226_uc002oyo.2_Missense_Mutation_p.Y33C|ZNF226_uc002oyq.2_5'UTR|ZNF226_uc002oyr.2_5'UTR|ZNF226_uc010ejg.2_Missense_Mutation_p.Y33C|ZNF226_uc002oys.2_Missense_Mutation_p.Y33C|ZNF226_uc002oyt.2_Missense_Mutation_p.Y33C	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN	zinc finger protein 226 isoform a	33	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				AGGAAGCTGTACCGAGATGTG	0.532													G	44676323	A	G	44676323	3	3	84	1	0	0	0	0	1	0	0	0	17777	391	14	3	104	3	ZNF226	19	44676323	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	453383	44676323	14452660	1389	56932											
CBLC	23624	broad.mit.edu	37	chr19	45296747	45296747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcactcggacagccagaCctgccccttctgccgctgcg	10	19	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:45296747C>T	uc002ozs.2	+	8	1217	c.1154C>T	c.(1153-1155)ACC>ATC	p.T385I	CBLC_uc010ejt.2_Missense_Mutation_p.T339I	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Cas-Br-M (murine) ecotropic retroviral	385	RING-type.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|skin(1)	6	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GACAGCCAGACCTGCCCCTTC	0.637			M		AML								T	45296747	C	T	45296747	3	4	84	1	0	0	0	0	1	0	0	0	2702	507	18	4	1184	4	CBLC	19	45296747	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	620424	45296747	13832236	1390	56933											
RELB	5971	broad.mit.edu	37	chr19	45515448	45515448	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcagcgcggcatgcgcTtccgctacgagtgcgagggc	15	14	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:45515448T>C	uc002paj.1	+	5	544	c.418T>C	c.(418-420)TTC>CTC	p.F140L		NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B	140	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CGGCATGCGCTTCCGCTACGA	0.741													C	45515448	T	C	45515448	3	2	84	1	0	0	0	0	1	0	0	0	13217	1609	56	3	424	3	RELB	19	45515448	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	218701	45515448	13613535	1391	56934											
RELB	5971	broad.mit.edu	37	chr19	45528941	45528941	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcctcatatcgggaccagCagggacagatgcgccggatg	15	11	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:45528941C>T	uc002paj.1	+	8	958	c.832C>T	c.(832-834)CAG>TAG	p.Q278*		NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B	278	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TCGGGACCAGCAGGGACAGAT	0.572													T	45528941	C	T	45528941	4	4	84	1	0	0	0	0	0	1	0	0	13217	711	25	2	850	2	RELB	19	45528941	Nonsense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	13493	45528941	13600042	1392	56935											
NKPD1	284353	broad.mit.edu	37	chr19	45655847	45655847	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcatggacaccacgttgtcGggcacgtactcgtagaggca	13	12	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:45655847G>A	uc010xxi.1	-	4	1848	c.1848C>T	c.(1846-1848)CCC>CCT	p.P616P		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CCACGTTGTCGGGCACGTACT	0.692													A	45655847	G	A	45655847	2	1	84	1	0	0	0	0	0	0	0	1	10446	1103	39	1		1	NKPD1	19	45655847	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	126906	45655847	13473136	1393	56936											
FOSB	2354	broad.mit.edu	37	chr19	45973963	45973963	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaaccagccaggacctccAgtggcttgtgcaacccaccc	8	18	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:45973963A>G	uc002pbx.3	+	2	795	c.203A>G	c.(202-204)CAG>CGG	p.Q68R	ERCC1_uc002pbu.1_Intron|FOSB_uc002pbw.2_Missense_Mutation_p.Q68R|FOSB_uc010eke.2_Intron|FOSB_uc002pby.3_Missense_Mutation_p.Q68R|FOSB_uc010eka.1_Intron|FOSB_uc010ekb.1_Missense_Mutation_p.Q68R|FOSB_uc010ekc.1_Intron|FOSB_uc010ekf.2_Intron|FOSB_uc010ekd.1_Missense_Mutation_p.Q68R|FOSB_uc010ekg.2_Intron|FOSB_uc002pca.3_Missense_Mutation_p.Q19R	NM_006732	NP_006723	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	68					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|lung(1)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CAGGACCTCCAGTGGCTTGTG	0.627													G	45973963	A	G	45973963	3	3	84	1	0	0	0	0	1	0	0	0	5986	188	7	3	209	3	FOSB	19	45973963	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	318116	45973963	13155020	1394	56937											
PPP5C	5536	broad.mit.edu	37	chr19	46890442	46890442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatgtacgagctctttagcGaggtgttcgagtggctcccg	14	9	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:46890442G>A	uc002pem.2	+	8	1057	c.997G>A	c.(997-999)GAG>AAG	p.E333K	PPP5C_uc010xya.1_Missense_Mutation_p.E200K|PPP5C_uc002pen.2_Missense_Mutation_p.E311K|PPP5C_uc010xyb.1_Missense_Mutation_p.E191K	NM_006247	NP_006238	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	333	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			lung(1)|pancreas(1)	2		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		GCTCTTTAGCGAGGTGTTCGA	0.592													A	46890442	G	A	46890442	3	1	84	1	0	0	0	0	1	0	0	0	12406	1059	37	1	1027	1	PPP5C	19	46890442	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	916479	46890442	12238541	1395	56938											
C5AR1	728	broad.mit.edu	37	chr19	47823944	47823944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcatctacgtggtggccGgccagggcttccagggccga	14	14	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:47823944G>A	uc002pgj.1	+	2	959	c.910G>A	c.(910-912)GGC>AGC	p.G304S		NM_001736	NP_001727	P21730	C5AR_HUMAN	complement component 5 receptor 1	304	Cytoplasmic (Potential).				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CGTGGTGGCCGGCCAGGGCTT	0.587													A	47823944	G	A	47823944	3	1	84	1	0	0	0	0	1	0	0	0	2281	1116	39	1	915	1	C5AR1	19	47823944	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	933502	47823944	11305039	1396	56939											
SULT2A1	6822	broad.mit.edu	37	chr19	48385411	48385411	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaataaacttcatgtttttCcagaaaaaataaccagacac	3	8	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:48385411C>T	uc002phr.2	-	3	542	c.402G>A	c.(400-402)TGG>TGA	p.W134*		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	bile-salt sulfotransferase 2A1	134					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			ovary(1)|pancreas(1)	2		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		TCATGTTTTTCCAGAAAAAAT	0.343													T	48385411	C	T	48385411	4	4	84	1	0	0	0	0	0	1	0	0	15378	856	30	4	471	4	SULT2A1	19	48385411	Nonsense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	561467	48385411	10743572	1397	56940											
RUVBL2	10856	broad.mit.edu	37	chr19	49513257	49513257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaccatcgacaaggcgacGggcaagatctccaagctggg	12	12	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:49513257G>A	uc002plr.1	+	8	610	c.597G>A	c.(595-597)ACG>ACA	p.T199T	RUVBL2_uc002plq.1_Silent_p.T154T|RUVBL2_uc010yab.1_Silent_p.T199T|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Silent_p.T154T|RUVBL2_uc010yac.1_Silent_p.T154T	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	RuvB-like 2	199					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		ACAAGGCGACGGGCAAGATCT	0.677													A	49513257	G	A	49513257	2	1	84	1	0	0	0	0	0	0	0	1	13753	1103	39	1		1	RUVBL2	19	49513257	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1127846	49513257	9615726	1398	56941											
HRC	3270	broad.mit.edu	37	chr19	49658190	49658190	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggacctgtggcctgggagtAggtgcccatattccttggag	16	9	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:49658190A>G	uc002pmv.2	-	1	492	c.305T>C	c.(304-306)CTA>CCA	p.L102P	TRPM4_uc002pmw.2_5'Flank|TRPM4_uc010emu.2_5'Flank|TRPM4_uc010yak.1_5'Flank|TRPM4_uc002pmx.2_5'Flank|TRPM4_uc010emv.2_5'Flank|TRPM4_uc010yal.1_5'Flank	NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	102					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GCCTGGGAGTAGGTGCCCATA	0.547													G	49658190	A	G	49658190	3	3	84	1	0	0	0	0	1	0	0	0	7352	420	15	3	1818	3	HRC	19	49658190	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	144933	49658190	9470793	1399	56942											
RRAS	6237	broad.mit.edu	37	chr19	50140109	50140109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgttaatggcgaacaccaGcaggaagccgtggccagcac	13	12	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:50140109G>A	uc002pop.1	-	3	361	c.316C>T	c.(316-318)CTG>TTG	p.L106L		NM_006270	NP_006261	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	106					axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		GCGAACACCAGCAGGAAGCCG	0.657													A	50140109	G	A	50140109	2	1	84	1	0	0	0	0	0	0	0	1	13676	962	34	2		2	RRAS	19	50140109	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	481919	50140109	8988874	1400	56943											
SCAF1	58506	broad.mit.edu	37	chr19	50156621	50156621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctgccctcactccggactCgcagaccgtggacagcagct	10	18	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:50156621C>T	uc002poq.2	+	7	3099	c.2975C>T	c.(2974-2976)TCG>TTG	p.S992L		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	992					mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		ACTCCGGACTCGCAGACCGTG	0.657													T	50156621	C	T	50156621	3	4	84	1	0	0	0	0	1	0	0	0	13868	893	31	1	2997	1	SCAF1	19	50156621	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	16512	50156621	8972362	1401	56944											
PTOV1	53635	broad.mit.edu	37	chr19	50360301	50360303	+	In_Frame_Del	DEL	AAG	AAG	-													tcatgctcctgtactcgtccAagaagaagatcttcatgggc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:50360301_50360303delAAG	uc002pqf.1	+	6	798_800	c.628_630delAAG	c.(628-630)AAGdel	p.K212del	PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_In_Frame_Del_p.K180del|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	212	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GTACTCGTCCAAGAAGAAGATCT	0.64													-	50360303	AAG	-	50360301	7	5	84	1	0	1	0	1	0	0	0	0	12769	131	5	0	650	0	PTOV1	19	50360301	In_Frame_Del	DEL	AAG	TCGA-BR-8372-01A-11D-2340-08	203680	50360301	8768682	1402	56945											
PTOV1	53635	broad.mit.edu	37	chr19	50363527	50363527	+	Splice_Site	DEL	G	G	-													tctgatttctcgccgtagatGggggggtagtggttaccccg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:50363526_50363526TG>T	uc002pqf.1	+	12	1410	c.1240_splice	c.e12-1	p.M414_splice	PTOV1_uc002pqb.4_Splice_Site_p.G358_splice|PTOV1_uc002pqa.3_Splice_Site|PTOV1_uc002pqd.3_Splice_Site|PTOV1_uc002pqe.2_Splice_Site	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	Homo sapiens prostate tumor overexpressed 1 (PTOV1), mRNA.	414	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TCGCCGTAGATGGGGGGGTAG	0.657													-	50363527	G	-	50363527	8	5	84	1	0	1	0	1	0	0	1	0	12769	1348	47	0	1288	0	PTOV1	19	50363527	Splice_Site	DEL	G	TCGA-BR-8372-01A-11D-2340-08	3226	50363527	8765456	1403	56946											
NR1H2	7376	broad.mit.edu	37	chr19	50881507	50881507	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgtggggacaaggccTccggcttccactacaacgtg	13	12	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:50881507T>C	uc010enw.2	+	5	559	c.283T>C	c.(283-285)TCC>CCC	p.S95P	NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Missense_Mutation_p.S95P|NR1H2_uc002psa.3_Intron	NM_007121	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	95	Nuclear receptor.|NR C4-type.				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GGACAAGGCCTCCGGCTTCCA	0.652													C	50881507	T	C	50881507	3	2	84	1	0	0	0	0	1	0	0	0	10617	1551	54	3	293	3	NR1H2	19	50881507	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	517980	50881507	8247476	1404	56947											
KLK10	5655	broad.mit.edu	37	chr19	51520527	51520527	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagcgcgtgtcgttttggggGagcagcgccgcctctgcggc	17	12	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:51520527G>T	uc002puy.2	-	3	189	c.108C>A	c.(106-108)CTC>CTA	p.L36L	KLK10_uc002puz.2_Silent_p.L36L|KLK10_uc002pva.2_Silent_p.L36L	NM_145888	NP_665895	O43240	KLK10_HUMAN	kallikrein-related peptidase 10 preproprotein	36					cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			lung(2)	2		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CGTTTTGGGGGAGCAGCGCCG	0.667											OREG0025646	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	51520527	G	T	51520527	2	4	84	1	0	0	0	0	0	0	0	1	8398	1161	41	5		5	KLK10	19	51520527	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	639020	51520527	7608456	1405	56948											
ETFB	2109	broad.mit.edu	37	chr19	51853588	51853588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactccagtctcacctgtgGccagtcaagaaatccagctg	8	15	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:51853588G>A	uc002pwh.2	-	4	525	c.433C>T	c.(433-435)CCA>TCA	p.P145S	ETFB_uc002pwg.2_Missense_Mutation_p.P236S	NM_001985	NP_001976	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	145					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		CTCACCTGTGGCCAGTCAAGA	0.274													A	51853588	G	A	51853588	3	1	84	1	0	0	0	0	1	0	0	0	5270	1203	42	2	346	2	ETFB	19	51853588	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	333061	51853588	7275395	1406	56949											
MBOAT7	79143	broad.mit.edu	37	chr19	54677780	54677780	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcaaggctggtgggctgGgatgctgccttccgccggct	19	11	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:54677780G>A	uc002qdq.2	-	9	1643	c.1377C>T	c.(1375-1377)TCC>TCT	p.S459S	TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Silent_p.S143S|MBOAT7_uc010yem.1_Silent_p.S441S|MBOAT7_uc002qdr.2_Silent_p.S459S|MBOAT7_uc002qds.2_Silent_p.S386S|MBOAT7_uc010yen.1_Silent_p.S386S	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain	459					phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGGTGGGCTGGGATGCTGCCT	0.662													A	54677780	G	A	54677780	2	1	84	1	0	0	0	0	0	0	0	1	9358	1219	43	4		4	MBOAT7	19	54677780	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	2824192	54677780	4451203	1407	56950											
LENG8	114823	broad.mit.edu	37	chr19	54967856	54967856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagtcgaaagaagatggCggcgctggagtgtgaggacc	18	8	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:54967856C>T	uc002qfv.1	+	10	1520	c.1376C>T	c.(1375-1377)GCG>GTG	p.A459V	LENG8_uc002qfw.2_Missense_Mutation_p.A496V			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	459							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AAGAAGATGGCGGCGCTGGAG	0.682													T	54967856	C	T	54967856	3	4	84	1	0	0	0	0	1	0	0	0	8724	768	27	1	1525	1	LENG8	19	54967856	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	290076	54967856	4161127	1408	56951											
LILRB1	10859	broad.mit.edu	37	chr19	55148284	55148284	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctccatcccaggaagggccCtctccagctgtgcccagcat	9	18	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:55148284C>A	uc002qgj.2	+	16	2248	c.1908C>A	c.(1906-1908)CCC>CCA	p.P636P	LILRB1_uc002qgl.2_Silent_p.P637P|LILRB1_uc002qgk.2_Silent_p.P637P|LILRB1_uc002qgm.2_Silent_p.P638P|LILRB1_uc010erq.2_Silent_p.P620P|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	636	Cytoplasmic (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		AGGAAGGGCCCTCTCCAGCTG	0.637										HNSCC(37;0.09)			A	55148284	C	A	55148284	2	1	84	1	0	0	0	0	0	0	0	1	8790	668	24	5		5	LILRB1	19	55148284	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	180428	55148284	3980699	1409	56952											
NLRP2	55655	broad.mit.edu	37	chr19	55508826	55508826	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgctgtttgaaaccttgacAtgttccagtggcaccctccg	9	12	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:55508826A>G	uc002qij.2	+	12	3107	c.3021A>G	c.(3019-3021)ACA>ACG	p.T1007T	NLRP2_uc010yfp.1_Silent_p.T984T|NLRP2_uc010esn.2_Silent_p.T983T|NLRP2_uc010eso.2_Silent_p.T1004T|NLRP2_uc010esp.2_Silent_p.T985T	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	1007					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AAACCTTGACATGTTCCAGTG	0.522													G	55508826	A	G	55508826	2	3	84	1	0	0	0	0	0	0	0	1	10477	204	8	3		3	NLRP2	19	55508826	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	360542	55508826	3620157	1410	56953											
ZNF628	89887	broad.mit.edu	37	chr19	55993117	55993117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctgcgggaagagcttcaCgcagagcaccaacctgcggc	13	13	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:55993117C>T	uc002qld.2	+	3	1110	c.545C>T	c.(544-546)ACG>ATG	p.T182M		NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	182	C2H2-type 6.					nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AAGAGCTTCACGCAGAGCACC	0.687													T	55993117	C	T	55993117	3	4	84	1	0	0	0	0	1	0	0	0	18049	536	19	1	547	1	ZNF628	19	55993117	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	484291	55993117	3135866	1411	56954											
ZNF628	89887	broad.mit.edu	37	chr19	55994462	55994462	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgcggcttcgttatggcCgcctatctgcagcggcacct	13	14	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:55994462C>T	uc002qld.2	+	3	2455	c.1890C>T	c.(1888-1890)GCC>GCT	p.A630A	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	630	C2H2-type 16.					nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TCGTTATGGCCGCCTATCTGC	0.711													T	55994462	C	T	55994462	2	4	84	1	0	0	0	0	0	0	0	1	18049	639	23	1		1	ZNF628	19	55994462	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1345	55994462	3134521	1412	56955											
NLRP9	338321	broad.mit.edu	37	chr19	56249537	56249537	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggttcagtgttacctcccaTgcctgctttcctgggtaatg	10	11	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:56249537T>C	uc002qly.2	-	1	232	c.204A>G	c.(202-204)GCA>GCG	p.A68A		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	68	DAPIN.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTACCTCCCATGCCTGCTTTC	0.478													C	56249537	T	C	56249537	2	2	84	1	0	0	0	0	0	0	0	1	10484	1451	51	3		3	NLRP9	19	56249537	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	255075	56249537	2879446	1413	56956											
PEG3	5178	broad.mit.edu	37	chr19	57327277	57327277	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatttccattgtgacttcTtggaggtttggaagccacta	9	8	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:57327277T>C	uc002qnu.2	-	7	2884	c.2533A>G	c.(2533-2535)AGA>GGA	p.R845G	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R816G|PEG3_uc002qnv.2_Missense_Mutation_p.R845G|PEG3_uc002qnw.2_Missense_Mutation_p.R721G|PEG3_uc002qnx.2_Missense_Mutation_p.R719G|PEG3_uc010etr.2_Missense_Mutation_p.R845G	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	845					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTGTGACTTCTTGGAGGTTTG	0.438													C	57327277	T	C	57327277	3	2	84	1	0	0	0	0	1	0	0	0	11720	1617	56	3	2237	3	PEG3	19	57327277	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1077740	57327277	1801706	1414	56957											
DEFB128	245939	broad.mit.edu	37	chr20	168739	168740	+	Frame_Shift_Ins	INS	-	-	T													cctgttactttattgaagcaINSttttttgagtcttgccccgt					rs116794501	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:168739_168740insT	uc002wcz.1	-	2	69_70	c.69_70insA	c.(67-72)AAATGCfs	p.K23fs		NM_001037732	NP_001032821	Q7Z7B8	DB128_HUMAN	beta-defensin 128 precursor	23_24					defense response to bacterium	extracellular region		p.R20fs*4(1)		breast(1)	1		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TTATTGAAGCATTTTTTGAGTC	0.411													T	168740	-	T	168739	7	5	84	1	0	1	1	0	0	0	0	0	4414	217	8	0	215	0	DEFB128	20	168739	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08		168739	62856781	1415	56958	250	2									
DEFB128	245939	broad.mit.edu	37	chr20	168740	168741	+	Frame_Shift_Ins	INS	-	-	T													ctgttactttattgaagcatINStttttgagtcttgccccgtc					rs116794501	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:168739_168740A>AT	uc002wcz.1	-	1	69_70	c.69_70T>AT	c.(67-72)aaatgcfs	p.K23fs		NM_001037732	NP_001032821	Q7Z7B8	DB128_HUMAN	Homo sapiens defensin, beta 128 (DEFB128), mRNA.	23					defense response to bacterium	extracellular region		p.R20fs*4(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TTATTGAAGCATTTTTTGAGTC	0.411													T	168741	-	T	168740	7	5	84	1	0	1	1	0	0	0	0	0	4414	1490	52	0	216	0	DEFB128	20	168740	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	1	168740	62856780	1416	56959	250	2									
SDCBP2	27111	broad.mit.edu	37	chr20	1298987	1298987	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caccctctggaatctgaagcAggctctcctggacttcttgg	10	13	4	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:1298987A>C	uc002wev.3	-	4	329	c.200T>G	c.(199-201)CTG>CGG	p.L67R	FKBP1A_uc010gac.2_Missense_Mutation_p.L67R|SDCBP2_uc010zpq.1_Missense_Mutation_p.L67R	NM_080489	NP_536737	Q9H190	SDCB2_HUMAN	syndecan binding protein 2 isoform a	67					intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			large_intestine(1)|skin(1)	2						AATCTGAAGCAGGCTCTCCTG	0.478													C	1298987	A	C	1298987	3	2	84	1	0	0	0	0	1	0	0	0	13956	188	7	5	702	5	SDCBP2	20	1298987	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1130247	1298987	61726533	1417	56960											
SIRPG	55423	broad.mit.edu	37	chr20	1616978	1616978	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggatgctgtaggccacacTctgtcctgtggggtccacgt	14	12	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:1616978T>C	uc002wfm.1	-	3	669	c.604A>G	c.(604-606)AGT>GGT	p.S202G	SIRPG_uc002wfn.1_Missense_Mutation_p.S202G|SIRPG_uc002wfo.1_Intron|uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma isoform 1	202	Extracellular (Potential).|Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			ovary(1)	1						TAGGCCACACTCTGTCCTGTG	0.577													C	1616978	T	C	1616978	3	2	84	1	0	0	0	0	1	0	0	0	14336	1551	54	3	571	3	SIRPG	20	1616978	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	317991	1616978	61408542	1418	56961											
SIRPG	55423	broad.mit.edu	37	chr20	1629991	1629991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgcagagtggctgtctttCcaactgtgaccaacaggagc	12	10	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:1629991C>T	uc002wfm.1	-	2	202	c.137G>A	c.(136-138)GGA>GAA	p.G46E	SIRPG_uc002wfn.1_Missense_Mutation_p.G46E|SIRPG_uc002wfo.1_Missense_Mutation_p.G46E	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma isoform 1	46	Extracellular (Potential).|Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			ovary(1)	1						GGCTGTCTTTCCAACTGTGAC	0.512													T	1629991	C	T	1629991	3	4	84	1	0	0	0	0	1	0	0	0	14336	855	30	4	1042	4	SIRPG	20	1629991	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	13013	1629991	61395529	1419	56962											
ZNF343	79175	broad.mit.edu	37	chr20	2465247	2465247	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgactgaggaactgctgAcaggagaaggccagaaggca	15	7	0	5			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:2465247A>G	uc002wge.1	-	6	848	c.360T>C	c.(358-360)TGT>TGC	p.C120C	ZNF343_uc010gao.1_Silent_p.C120C|ZNF343_uc002wgd.1_Silent_p.C30C	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	120	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						GGAACTGCTGACAGGAGAAGG	0.468													G	2465247	A	G	2465247	2	3	84	1	0	0	0	0	0	0	0	1	17855	273	10	3		3	ZNF343	20	2465247	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	835256	2465247	60560273	1420	56963											
DDRGK1	65992	broad.mit.edu	37	chr20	3171871	3171871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccagcaggtcctggatgCgatttatggtgtcctatgag	13	9	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:3171871C>T	uc002wic.2	-	8	765	c.743G>A	c.(742-744)CGC>CAC	p.R248H	DDRGK1_uc010gaw.2_RNA	NM_023935	NP_076424	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1 precursor	248	PCI.					endoplasmic reticulum	protein binding				0						GTCCTGGATGCGATTTATGGT	0.517													T	3171871	C	T	3171871	3	4	84	1	0	0	0	0	1	0	0	0	4338	768	27	1	209	1	DDRGK1	20	3171871	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	706624	3171871	59853649	1421	56964											
LRRN4	164312	broad.mit.edu	37	chr20	6022558	6022558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcagccctggggaaaaCgctggagttgctgtgacctg	16	10	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:6022558C>T	uc002wmo.2	-	5	1557	c.1333G>A	c.(1333-1335)GTT>ATT	p.V445I		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	445	Extracellular (Potential).					integral to membrane				skin(3)	3						CTGGGGAAAACGCTGGAGTTG	0.637													T	6022558	C	T	6022558	3	4	84	1	0	0	0	0	1	0	0	0	9037	536	19	1	893	1	LRRN4	20	6022558	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2850687	6022558	57002962	1422	56965											
TMX4	56255	broad.mit.edu	37	chr20	7990877	7990877	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgacatctaccttccccaCactgatctgaagtatttcac	4	13	3	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:7990877C>A	uc002wmx.1	-	2	395	c.262G>T	c.(262-264)GTG>TTG	p.V88L		NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	88	Thioredoxin.				cell redox homeostasis|electron transport chain|transport	integral to membrane					0						ACCTTCCCCACACTGATCTGA	0.388													A	7990877	C	A	7990877	3	1	84	1	0	0	0	0	1	0	0	0	16266	478	17	5	815	5	TMX4	20	7990877	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1968319	7990877	55034643	1423	56966											
PLCB1	23236	broad.mit.edu	37	chr20	8628584	8628584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagtcactccagaagggCgtattcctctcaaaaagtaa	8	10	2	1	rs142186851		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:8628584C>T	uc002wnb.2	+	6	505	c.502C>T	c.(502-504)CGT>TGT	p.R168C	PLCB1_uc010zrb.1_Missense_Mutation_p.R67C|PLCB1_uc010gbv.1_Missense_Mutation_p.R168C|PLCB1_uc002wmz.1_Missense_Mutation_p.R168C|PLCB1_uc002wna.2_Missense_Mutation_p.R168C|PLCB1_uc002wnc.1_Missense_Mutation_p.R67C	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	168					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						TCCAGAAGGGCGTATTCCTCT	0.323													T	8628584	C	T	8628584	3	4	84	1	0	0	0	0	1	0	0	0	12027	768	27	1	524	1	PLCB1	20	8628584	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	637707	8628584	54396936	1424	56967											
KIF16B	55614	broad.mit.edu	37	chr20	16360087	16360087	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatctcctgttcttcttggaCttcttttttcaggatgtctt	7	9	6	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:16360087C>G	uc002wpg.1	-	19	2718	c.2560G>C	c.(2560-2562)GTC>CTC	p.V854L	KIF16B_uc002wpe.1_Missense_Mutation_p.V236L|KIF16B_uc002wpf.1_Missense_Mutation_p.V236L|KIF16B_uc010gch.1_Missense_Mutation_p.V854L|KIF16B_uc010gci.1_Missense_Mutation_p.V854L|KIF16B_uc010gcj.1_Missense_Mutation_p.V865L	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	854	Glu-rich.|Potential.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						TCTTCTTGGACTTCTTTTTTC	0.418													G	16360087	C	G	16360087	3	3	84	1	0	0	0	0	1	0	0	0	8278	565	20	5	1425	5	KIF16B	20	16360087	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	7731503	16360087	46665433	1425	56968											
RRBP1	6238	broad.mit.edu	37	chr20	17640875	17640875	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctggttctcgaaggaggacaGtcacattgggggctggatca	15	8	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:17640875G>C	uc010zrq.1	-	3	632	c.278C>G	c.(277-279)ACT>AGT	p.T93S	RRBP1_uc002wpu.2_5'Flank|RRBP1_uc002wpv.1_Missense_Mutation_p.T93S|RRBP1_uc002wpw.1_Missense_Mutation_p.T93S|RRBP1_uc010gcl.1_Intron|RRBP1_uc010zrr.1_Missense_Mutation_p.T93S			Q9P2E9	RRBP1_HUMAN	SubName: Full=RRBP1 protein; Flags: Fragment;	93	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						AAGGAGGACAGTCACATTGGG	0.423													C	17640875	G	C	17640875	3	2	84	1	0	0	0	0	1	0	0	0	13678	1029	36	5	2751	5	RRBP1	20	17640875	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1280788	17640875	45384645	1426	56969											
C20orf26	26074	broad.mit.edu	37	chr20	20144799	20144799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagagcccgtccacttcCgccccatctacaggggagcc	10	17	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:20144799C>T	uc002wru.2	+	11	1208	c.1132C>T	c.(1132-1134)CGC>TGC	p.R378C	C20orf26_uc010gcw.1_Missense_Mutation_p.R332C|C20orf26_uc010zse.1_Missense_Mutation_p.R378C|C20orf26_uc010zsf.1_Missense_Mutation_p.R378C	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	378										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		CGTCCACTTCCGCCCCATCTA	0.493													T	20144799	C	T	20144799	3	4	84	1	0	0	0	0	1	0	0	0	2106	652	23	1	1170	1	C20orf26	20	20144799	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2503924	20144799	42880721	1427	56970											
RALGAPA2	57186	broad.mit.edu	37	chr20	20552182	20552182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttggcagaacgtcctggcGtctggtcatcatggcacaga	13	10	3	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:20552182G>A	uc002wrz.2	-	23	3219	c.3076C>T	c.(3076-3078)CGC>TGC	p.R1026C	RALGAPA2_uc010gcx.2_Missense_Mutation_p.R730C|RALGAPA2_uc010zsg.1_Missense_Mutation_p.R474C	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1026					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						ACGTCCTGGCGTCTGGTCATC	0.483													A	20552182	G	A	20552182	3	1	84	1	0	0	0	0	1	0	0	0	13014	1145	40	1	2613	1	RALGAPA2	20	20552182	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	407383	20552182	42473338	1428	56971											
CST2	1470	broad.mit.edu	37	chr20	23805952	23805952	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaagaagtaattcaccccGcccacgatctacacacatga	6	14	2	2	rs146039211	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:23805952G>A	uc002wtq.1	-	2	252	c.237C>T	c.(235-237)GGC>GGT	p.G79G		NM_001322	NP_001313	P09228	CYTT_HUMAN	cystatin SA precursor	79	Secondary area of contact.					extracellular region	cysteine-type endopeptidase inhibitor activity				0						AATTCACCCCGCCCACGATCT	0.542													A	23805952	G	A	23805952	2	1	84	1	0	0	0	0	0	0	0	1	3972	1074	38	1		1	CST2	20	23805952	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	3253770	23805952	39219568	1429	56972											
ACSS1	84532	broad.mit.edu	37	chr20	24988531	24988531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgatcttcctcaggagcCgccgcatgaccttcccagac	9	15	2	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:24988531C>T	uc002wub.2	-	14	2815	c.1937G>A	c.(1936-1938)CGG>CAG	p.R646Q	ACSS1_uc002wuc.2_Missense_Mutation_p.R644Q|ACSS1_uc010gdc.2_Missense_Mutation_p.R441Q|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Missense_Mutation_p.R563Q	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	646					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCTCAGGAGCCGCCGCATGAC	0.572													T	24988531	C	T	24988531	3	4	84	1	0	0	0	0	1	0	0	0	188	652	23	1	136	1	ACSS1	20	24988531	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1182579	24988531	38036989	1430	56973											
TPX2	22974	broad.mit.edu	37	chr20	30370194	30370194	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctcgagaaattgcaacaGtaagtcccactggcagtatc	10	10	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:30370194G>A	uc002wwp.1	+	11	1894	c.1196_splice	c.e11+1	p.Q399_splice	TPX2_uc010gdv.1_Splice_Site_p.Q435_splice	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated protein homolog						activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			large_intestine(1)|ovary(1)	2			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AATTGCAACAGTAAGTCCCAC	0.478													A	30370194	G	A	30370194	5	1	84	1	0	0	0	0	0	0	1	0	16429	1043	36	4	1231	4	TPX2	20	30370194	Splice_Site	SNP	G	TCGA-BR-8372-01A-11D-2340-08	5381663	30370194	32655326	1431	56974											
ZNF341	84905	broad.mit.edu	37	chr20	32345064	32345064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgccgcccccatgaccagCgccaccgggggcacggtggc	14	20	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:32345064C>T	uc002wzy.2	+	6	872	c.852C>T	c.(850-852)AGC>AGT	p.S284S	ZNF341_uc002wzx.2_Silent_p.S284S|ZNF341_uc010geq.2_Silent_p.S194S|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CCATGACCAGCGCCACCGGGG	0.637													T	32345064	C	T	32345064	2	4	84	1	0	0	0	0	0	0	0	1	17854	767	27	1		1	ZNF341	20	32345064	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1974870	32345064	30680456	1432	56975											
ACSS2	55902	broad.mit.edu	37	chr20	33501911	33501912	+	Frame_Shift_Ins	INS	-	-	G													cccaaagatgccttctacagINSgggggaaaagcttgtgaacc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:33501910_33501911A>AG	uc010gey.2	+	5	776_777	c.655_656A>AG	c.(655-657)aggfs	p.R219fs	ACSS2_uc002xbc.2_Frame_Shift_Ins_p.R124fs|ACSS2_uc010zum.1_Intron|ACSS2_uc002xbd.2_Frame_Shift_Ins_p.R219fs|ACSS2_uc002xbe.2_Intron	NM_001076552	NP_001070020	Q9NR19	ACSA_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 2 (ACSS2), transcript variant 2, mRNA.	219					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	ATP binding|acetate-CoA ligase activity|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGCCTTCTACAGGGGGGAAAAG	0.545													G	33501912	-	G	33501911	7	5	84	1	0	1	1	0	0	0	0	0	189	1000	35	0	678	0	ACSS2	20	33501911	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	1156847	33501911	29523609	1433	56976											
PROCR	10544	broad.mit.edu	37	chr20	33764236	33764236	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagaaacatatttccgcGgaaaacacgaaaggtatgat	10	7	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:33764236G>A	uc002xbt.2	+	3	772	c.588G>A	c.(586-588)GCG>GCA	p.A196A	EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Silent_p.A233A	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	endothelial protein C receptor precursor	196	Extracellular (Potential).				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity				0			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	ATATTTCCGCGGAAAACACGA	0.557													A	33764236	G	A	33764236	2	1	84	1	0	0	0	0	0	0	0	1	12547	1103	39	1		1	PROCR	20	33764236	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	262325	33764236	29261284	1434	56977											
MMP24	10893	broad.mit.edu	37	chr20	33862184	33862184	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgactggatgggctgcaaCcagaaggaggtggagcggcg	19	8	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:33862184C>T	uc002xbu.2	+	9	1713	c.1710C>T	c.(1708-1710)AAC>AAT	p.N570N	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	matrix metalloproteinase 24 preproprotein	570	Extracellular (Potential).				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TGGGCTGCAACCAGAAGGAGG	0.617													T	33862184	C	T	33862184	2	4	84	1	0	0	0	0	0	0	0	1	9661	506	18	4		4	MMP24	20	33862184	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	97948	33862184	29163336	1435	56978											
CEP250	11190	broad.mit.edu	37	chr20	34067191	34067191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaagcggctctagaggtgCggctgcaggccgtggagcgt	18	9	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:34067191C>T	uc002xcm.2	+	19	2901	c.2230C>T	c.(2230-2232)CGG>TGG	p.R744W	CEP250_uc010zve.1_Missense_Mutation_p.R112W	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	744	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TCTAGAGGTGCGGCTGCAGGC	0.602													T	34067191	C	T	34067191	3	4	84	1	0	0	0	0	1	0	0	0	3252	759	27	1	2288	1	CEP250	20	34067191	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	205007	34067191	28958329	1436	56979											
DLGAP4	22839	broad.mit.edu	37	chr20	35060903	35060903	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccaccaagaacaacacTactgagctgactgccccacc	5	16	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:35060903T>C	uc002xff.2	+	3	1218	c.783T>C	c.(781-783)ACT>ACC	p.T261T	DLGAP4_uc010zvp.1_Silent_p.T261T	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	261					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGAACAACACTACTGAGCTGA	0.622													C	35060903	T	C	35060903	2	2	84	1	0	0	0	0	0	0	0	1	4562	1509	53	3		3	DLGAP4	20	35060903	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	993712	35060903	27964617	1437	56980											
NDRG3	57446	broad.mit.edu	37	chr20	35293701	35293701	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcgatctccaggtctctGcgtctagaaaaacaaagcag	8	11	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:35293701G>A	uc002xfw.2	-	11	778	c.696C>T	c.(694-696)CGC>CGT	p.R232R	NDRG3_uc002xfx.2_Silent_p.R220R|NDRG3_uc010zvq.1_Silent_p.R137R|NDRG3_uc010zvr.1_Silent_p.R120R	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	N-myc downstream regulated gene 3 isoform a	232					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				ovary(1)	1		Myeloproliferative disorder(115;0.00878)				CCAGGTCTCTGCGTCTAGAAA	0.383													A	35293701	G	A	35293701	2	1	84	1	0	0	0	0	0	0	0	1	10253	1306	46	2		2	NDRG3	20	35293701	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	232798	35293701	27731819	1438	56981											
RBL1	5933	broad.mit.edu	37	chr20	35689518	35689518	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacatactcaaaaatatttAtaagttggtcacttggtgca	7	6	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:35689518A>G	uc002xgi.2	-	9	1317	c.1238T>C	c.(1237-1239)ATA>ACA	p.I413T	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.I413T|RBL1_uc010gfv.1_RNA	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	413	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				AAAAATATTTATAAGTTGGTC	0.333													G	35689518	A	G	35689518	3	3	84	1	0	0	0	0	1	0	0	0	13109	449	16	3	2033	3	RBL1	20	35689518	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	395817	35689518	27336002	1439	56982											
TGM2	7052	broad.mit.edu	37	chr20	36759566	36759566	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagccttccagggccacAgggagcgggttctgcaggga	17	11	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:36759566A>C	uc002xhr.2	-	12	1942	c.1842T>G	c.(1840-1842)CCT>CCG	p.P614P	TGM2_uc002xhq.2_Silent_p.P215P|TGM2_uc010zvx.1_Silent_p.P533P|TGM2_uc010zvy.1_Silent_p.P554P|TGM2_uc002xhs.1_Silent_p.P590P	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	614					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CCAGGGCCACAGGGAGCGGGT	0.627													C	36759566	A	C	36759566	2	2	84	1	0	0	0	0	0	0	0	1	15827	175	7	5		5	TGM2	20	36759566	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1070048	36759566	26265954	1440	56983											
TOP1	7150	broad.mit.edu	37	chr20	39726979	39726979	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcaaggaagagaaactggTactacagaatttattaaacc	9	6	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:39726979T>C	uc002xjl.2	+	11	1221	c.975_splice	c.e11+2	p.L325_splice	uc002xjn.1_RNA	NM_003286	NP_003277	P11387	TOP1_HUMAN	DNA topoisomerase I						DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	GAGAAACTGGTACTACAGAAT	0.368			T	NUP98	AML*								C	39726979	T	C	39726979	5	2	84	1	0	0	0	0	0	0	1	0	16360	1652	57	3	1019	3	TOP1	20	39726979	Splice_Site	SNP	T	TCGA-BR-8372-01A-11D-2340-08	2967413	39726979	23298541	1441	56984											
C20orf111	51526	broad.mit.edu	37	chr20	42826132	42826132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagttctcaaaggctcaaCgactgcccctgtgtgattag	10	10	2	2	rs2232289		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:42826132C>T	uc002xlk.2	-	4	576	c.439G>A	c.(439-441)GTT>ATT	p.V147I		NM_016470	NP_057554	Q9NX31	CT111_HUMAN	oxidative stress responsive 1	147											0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			AAAGGCTCAACGACTGCCCCT	0.517													T	42826132	C	T	42826132	3	4	84	1	0	0	0	0	1	0	0	0	2080	536	19	1	443	1	C20orf111	20	42826132	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	3099153	42826132	20199388	1442	56985											
HNF4A	3172	broad.mit.edu	37	chr20	43034754	43034754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacagcctgggtgtcagcGccctgtgtgccatctgcggg	14	14	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:43034754G>A	uc002xma.2	+	2	261	c.172G>A	c.(172-174)GCC>ACC	p.A58T	HNF4A_uc010zwo.1_Silent_p.A48A|HNF4A_uc002xlt.2_Missense_Mutation_p.A36T|HNF4A_uc002xlu.2_Missense_Mutation_p.A36T|HNF4A_uc002xlv.2_Missense_Mutation_p.A36T|HNF4A_uc002xly.2_Missense_Mutation_p.A58T|HNF4A_uc002xlz.2_Missense_Mutation_p.A58T|HNF4A_uc010ggq.2_Missense_Mutation_p.A51T	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	58	Nuclear receptor.				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGGTGTCAGCGCCCTGTGTGC	0.627													A	43034754	G	A	43034754	3	1	84	1	0	0	0	0	1	0	0	0	7253	1087	38	1	231	1	HNF4A	20	43034754	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	208622	43034754	19990766	1443	56986											
TTPAL	79183	broad.mit.edu	37	chr20	43108907	43108907	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcctccgagcccgcaagTttgattacgaccgggccctg	11	15	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:43108907T>C	uc002xmc.1	+	3	392	c.268T>C	c.(268-270)TTT>CTT	p.F90L	TTPAL_uc002xmd.1_Missense_Mutation_p.F90L|TTPAL_uc010ggr.1_5'UTR	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	90						intracellular	transporter activity			breast(1)	1						AGCCCGCAAGTTTGATTACGA	0.557													C	43108907	T	C	43108907	3	2	84	1	0	0	0	0	1	0	0	0	16734	1725	60	3	270	3	TTPAL	20	43108907	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	74153	43108907	19916613	1444	56987											
ADA	100	broad.mit.edu	37	chr20	43251662	43251662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcacctcttttactacttCggccgagcccacctccccgg	6	20	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:43251662C>T	uc002xmj.2	-	7	792	c.664G>A	c.(664-666)GAA>AAA	p.E222K	ADA_uc010ggt.2_RNA	NM_000022	NP_000013	P00813	ADA_HUMAN	adenosine deaminase	222					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			pancreas(2)|ovary(1)	3		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TTTACTACTTCGGCCGAGCCC	0.627									Adenosine_Deaminase_Deficiency				T	43251662	C	T	43251662	3	4	84	1	0	0	0	0	1	0	0	0	230	893	31	1	451	1	ADA	20	43251662	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	142755	43251662	19773858	1445	56988											
PABPC1L	80336	broad.mit.edu	37	chr20	43559190	43559190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggccgtgacagagatgaaCgggcgcatcgtgggcaccaa	15	10	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:43559190C>T	uc010ggv.1	+	8	1144	c.1062C>T	c.(1060-1062)AAC>AAT	p.N354N	PABPC1L_uc010zwq.1_RNA|PABPC1L_uc002xmv.2_RNA|PABPC1L_uc002xmw.2_5'Flank|PABPC1L_uc002xmx.2_5'Flank	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	poly(A)-binding protein, cytoplasmic 1-like	354	RRM 4.						nucleotide binding|RNA binding			ovary(1)	1						CAGAGATGAACGGGCGCATCG	0.577													T	43559190	C	T	43559190	2	4	84	1	0	0	0	0	0	0	0	1	11364	535	19	1		1	PABPC1L	20	43559190	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	307528	43559190	19466330	1446	56989											
KCNS1	3787	broad.mit.edu	37	chr20	43726483	43726483	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagaagggcagcacagacacAatgtcgatgaggttgagcgg	15	7	0	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:43726483A>G	uc002xnc.2	-	4	1327	c.930T>C	c.(928-930)ATT>ATC	p.I310I	KCNS1_uc002xnd.2_Silent_p.I310I	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	310	Helical; Name=Segment S3; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)				GCACAGACACAATGTCGATGA	0.627													G	43726483	A	G	43726483	2	3	84	1	0	0	0	0	0	0	0	1	8088	126	5	3		3	KCNS1	20	43726483	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	167293	43726483	19299037	1447	56990											
ZNF335	63925	broad.mit.edu	37	chr20	44596190	44596190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatcgtcctcctcctctgGtccctcttcctcttggctct	5	18	5	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:44596190G>A	uc002xqw.2	-	6	1021	c.898C>T	c.(898-900)CCA>TCA	p.P300S	ZNF335_uc010zxk.1_Missense_Mutation_p.P145S|ZNF335_uc002xqx.1_Missense_Mutation_p.P268S|ZNF335_uc002xqy.2_Missense_Mutation_p.P145S	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCCTCCTCTGGTCCCTCTTCC	0.572													A	44596190	G	A	44596190	3	1	84	1	0	0	0	0	1	0	0	0	17849	1261	44	4	3222	4	ZNF335	20	44596190	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	869707	44596190	18429330	1448	56991											
ZMYND8	23613	broad.mit.edu	37	chr20	45865224	45865224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccagggtgatggtggacGtggatgggctctgtgtgatc	17	7	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:45865224G>A	uc002xta.1	-	16	2896	c.2642C>T	c.(2641-2643)ACG>ATG	p.T881M	ZMYND8_uc010ghq.1_Missense_Mutation_p.T512M|ZMYND8_uc010ghr.1_Missense_Mutation_p.T810M|ZMYND8_uc002xst.1_Missense_Mutation_p.T763M|ZMYND8_uc002xsu.1_Missense_Mutation_p.T754M|ZMYND8_uc002xsv.1_Missense_Mutation_p.T809M|ZMYND8_uc002xsw.1_Missense_Mutation_p.T587M|ZMYND8_uc002xsx.1_Missense_Mutation_p.T587M|ZMYND8_uc002xsy.1_Missense_Mutation_p.T810M|ZMYND8_uc002xsz.1_Missense_Mutation_p.T772M|ZMYND8_uc010zxy.1_Missense_Mutation_p.T908M|ZMYND8_uc002xtb.1_Missense_Mutation_p.T855M|ZMYND8_uc002xss.2_Missense_Mutation_p.T881M|ZMYND8_uc010zxz.1_Missense_Mutation_p.T749M|ZMYND8_uc002xtc.1_Missense_Mutation_p.T855M|ZMYND8_uc002xtd.1_Missense_Mutation_p.T830M|ZMYND8_uc002xte.1_Missense_Mutation_p.T835M|ZMYND8_uc010zya.1_Missense_Mutation_p.T881M|ZMYND8_uc002xtf.1_Missense_Mutation_p.T901M|ZMYND8_uc002xsr.1_Translation_Start_Site	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	881							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GATGGTGGACGTGGATGGGCT	0.597													A	45865224	G	A	45865224	3	1	84	1	0	0	0	0	1	0	0	0	17708	1145	40	1	1034	1	ZMYND8	20	45865224	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1269034	45865224	17160296	1449	56992											
KCNG1	3755	broad.mit.edu	37	chr20	49626482	49626482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgcagcttgcccgcgcGcaggaaggtcaggatagtgc	15	13	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:49626482G>A	uc002xwa.3	-	2	689	c.394C>T	c.(394-396)CGC>TGC	p.R132C	KCNG1_uc002xwb.2_Missense_Mutation_p.R132C	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	132	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						TTGCCCGCGCGCAGGAAGGTC	0.647													A	49626482	G	A	49626482	3	1	84	1	0	0	0	0	1	0	0	0	8027	1087	38	1	1155	1	KCNG1	20	49626482	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	3761258	49626482	13399038	1450	56993											
ZNF217	7764	broad.mit.edu	37	chr20	52199232	52199232	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagctcggaatggaacaAcagcggtccctttcattgac	11	10	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:52199232A>G	uc002xwq.3	-	1	405	c.134T>C	c.(133-135)GTT>GCT	p.V45A	ZNF217_uc010gij.1_Missense_Mutation_p.V37A	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	45					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GAATGGAACAACAGCGGTCCC	0.478													G	52199232	A	G	52199232	3	3	84	1	0	0	0	0	1	0	0	0	17769	43	2	3	3028	3	ZNF217	20	52199232	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2572750	52199232	10826288	1451	56994											
CSTF1	1477	broad.mit.edu	37	chr20	54978601	54978601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggactatgtgttgctgcccGacgagaggacgatcagtctt	13	9	2	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:54978601G>A	uc002xxl.1	+	6	1314	c.1114G>A	c.(1114-1116)GAC>AAC	p.D372N	CSTF1_uc002xxm.1_Missense_Mutation_p.D372N|CSTF1_uc002xxn.1_Missense_Mutation_p.D372N|CSTF1_uc002xxo.1_Missense_Mutation_p.D315N	NM_001033521	NP_001028693	Q05048	CSTF1_HUMAN	cleavage stimulation factor subunit 1	372					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(1)	1			Colorectal(105;0.202)			GTTGCTGCCCGACGAGAGGAC	0.572													A	54978601	G	A	54978601	3	1	84	1	0	0	0	0	1	0	0	0	3983	1058	37	1	1132	1	CSTF1	20	54978601	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	2779369	54978601	8046919	1452	56995											
ZNF831	128611	broad.mit.edu	37	chr20	57766849	57766849	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccctacttgccaagaacCtggatgtgaggaccgaagct	11	12	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:57766849C>T	uc002yan.2	+	1	775	c.775C>T	c.(775-777)CTG>TTG	p.L259L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	259						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					TGCCAAGAACCTGGATGTGAG	0.662													T	57766849	C	T	57766849	2	4	84	1	0	0	0	0	0	0	0	1	18182	680	24	4		4	ZNF831	20	57766849	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2788248	57766849	5258671	1453	56996											
HRH3	11255	broad.mit.edu	37	chr20	60791216	60791216	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggagccagaaggaggttTcgtaccagtagtcagggacg	15	8	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:60791216T>G	uc002ycf.2	-	3	1481	c.1184A>C	c.(1183-1185)GAA>GCA	p.E395A	HRH3_uc002ycg.2_Missense_Mutation_p.E315A|HRH3_uc002ych.2_Intron|HRH3_uc002yci.2_Missense_Mutation_p.E395A	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	395	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity				0	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	GAAGGAGGTTTCGTACCAGTA	0.622													G	60791216	T	G	60791216	3	3	84	1	0	0	0	0	1	0	0	0	7357	1783	62	5	157	5	HRH3	20	60791216	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	3024367	60791216	2234304	1454	56997											
HRH3	11255	broad.mit.edu	37	chr20	60794884	60794884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgcgttgcccagcaccGtggccacgatgagcagcgcc	13	17	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:60794884G>A	uc002ycf.2	-	1	440	c.143C>T	c.(142-144)ACG>ATG	p.T48M	HRH3_uc002ycg.2_Missense_Mutation_p.T48M|HRH3_uc002ych.2_Missense_Mutation_p.T48M|HRH3_uc002yci.2_Missense_Mutation_p.T48M	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	48	Helical; Name=1; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity				0	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	GCCCAGCACCGTGGCCACGAT	0.522													A	60794884	G	A	60794884	3	1	84	1	0	0	0	0	1	0	0	0	7357	1145	40	1	1206	1	HRH3	20	60794884	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	3668	60794884	2230636	1455	56998											
LAMA5	3911	broad.mit.edu	37	chr20	60887363	60887363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccatggaaagtcatggCgcgccccacctgcggggagg	17	12	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:60887363C>T	uc002ycq.2	-	69	9437	c.9370G>A	c.(9370-9372)GCC>ACC	p.A3124T		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3124	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAAGTCATGGCGCGCCCCACC	0.692													T	60887363	C	T	60887363	3	4	84	1	0	0	0	0	1	0	0	0	8609	768	27	1	1765	1	LAMA5	20	60887363	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	92479	60887363	2138157	1456	56999											
LAMA5	3911	broad.mit.edu	37	chr20	60904862	60904862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccggcccttgggcacacGcacggtcacagtgagctcgc	12	17	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:60904862G>A	uc002ycq.2	-	32	4157	c.4090C>T	c.(4090-4092)CGT>TGT	p.R1364C		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1364	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGGGCACACGCACGGTCACA	0.622													A	60904862	G	A	60904862	3	1	84	1	0	0	0	0	1	0	0	0	8609	1087	38	1	7193	1	LAMA5	20	60904862	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	17499	60904862	2120658	1457	57000											
LAMA5	3911	broad.mit.edu	37	chr20	60927304	60927304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccccggcccacctctccGttctccaggggcacgatgcg	10	20	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:60927304G>A	uc002ycq.2	-	4	748	c.681C>T	c.(679-681)AAC>AAT	p.N227N		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	227	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ccacctctccGTTCTCCAGGG	0.328													A	60927304	G	A	60927304	2	1	84	1	0	0	0	0	0	0	0	1	8609	1136	40	1		1	LAMA5	20	60927304	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	22442	60927304	2098216	1458	57001											
YTHDF1	54915	broad.mit.edu	37	chr20	61834233	61834233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcagaattaggctggacGtttccaggagagttgctatc	15	7	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:61834233G>A	uc002yeh.2	-	4	1353	c.1059C>T	c.(1057-1059)AAC>AAT	p.N353N	YTHDF1_uc011aaq.1_Silent_p.N303N	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	353										ovary(2)	2						TAGGCTGGACGTTTCCAGGAG	0.592													A	61834233	G	A	61834233	2	1	84	1	0	0	0	0	0	0	0	1	17495	1136	40	1		1	YTHDF1	20	61834233	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	906929	61834233	1191287	1459	57002											
PTK6	5753	broad.mit.edu	37	chr20	62163960	62163960	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccacggacaccacggcgtAcagcgccaggatgtgtttgt	12	14	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:62163960A>G	uc002yfg.2	-	5	791	c.751T>C	c.(751-753)TAC>CAC	p.Y251H	PTK6_uc011aay.1_Missense_Mutation_p.Y150H|PTK6_uc011aaz.1_Missense_Mutation_p.Y13H	NM_005975	NP_005966	Q13882	PTK6_HUMAN	PTK6 protein tyrosine kinase 6	251	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(1)|kidney(1)	2	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			ACCACGGCGTACAGCGCCAGG	0.657													G	62163960	A	G	62163960	3	3	84	1	0	0	0	0	1	0	0	0	12764	391	14	3	620	3	PTK6	20	62163960	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	329727	62163960	861560	1460	57003											
PRIC285	85441	broad.mit.edu	37	chr20	62194212	62194212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggaaggcggcctccaggCggaaggcgccctgcagctgc	17	14	0	0	rs115251319	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:62194212C>T	uc002yfm.2	-	9	6855	c.5963G>A	c.(5962-5964)CGC>CAC	p.R1988H	PRIC285_uc002yfl.1_Missense_Mutation_p.R1419H	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1988					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GGCCTCCAGGCGGAAGGCGCC	0.677													T	62194212	C	T	62194212	3	4	84	1	0	0	0	0	1	0	0	0	12485	768	27	1	2034	1	PRIC285	20	62194212	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	30252	62194212	831308	1461	57004											
ZNF512B	57473	broad.mit.edu	37	chr20	62597930	62597930	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacacccacaggtttgccaaTagtgacaggtttgctcactc	9	12	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:62597930T>C	uc002yhl.1	-	5	652	c.598A>G	c.(598-600)ATT>GTT	p.I200V		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGTTTGCCAATAGTGACAGGT	0.622													C	62597930	T	C	62597930	3	2	84	1	0	0	0	0	1	0	0	0	17954	1406	49	3	2132	3	ZNF512B	20	62597930	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	403718	62597930	427590	1462	57005											
ADAMTS1	9510	broad.mit.edu	37	chr21	28213404	28213404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggttggaaagcattgacgCcatcatgtgggaatcctggt	13	8	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:28213404C>T	uc002ymf.2	-	4	1746	c.1291G>A	c.(1291-1293)GCG>ACG	p.A431T		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	431	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		AGCATTGACGCCATCATGTGG	0.483													T	28213404	C	T	28213404	3	4	84	1	0	0	0	0	1	0	0	0	255	739	26	2	1636	2	ADAMTS1	21	28213404	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08		28213404	19916491	1463	57006											
KRTAP23-1	337963	broad.mit.edu	37	chr21	31720883	31720883	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcacaggtagccctcacaGgaatgggaggagaagtttcc	13	9	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:31720883G>A	uc002yny.1	-	1	42	c.42C>T	c.(40-42)TCC>TCT	p.S14S		NM_181624	NP_853655	A1A580	KR231_HUMAN	keratin associated protein 23-1	14						intermediate filament					0						AGCCCTCACAGGAATGGGAGG	0.552													A	31720883	G	A	31720883	2	1	84	1	0	0	0	0	0	0	0	1	8541	987	35	4		4	KRTAP23-1	21	31720883	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	3507479	31720883	16409012	1464	57007											
TIAM1	7074	broad.mit.edu	37	chr21	32513685	32513685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctccgcatcggtcagggCgaacagctccctgagcagaa	12	14	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:32513685C>T	uc002yow.1	-	22	4085	c.3613G>A	c.(3613-3615)GCC>ACC	p.A1205T	TIAM1_uc011adk.1_Missense_Mutation_p.A1205T|TIAM1_uc011adl.1_Missense_Mutation_p.A1145T	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1205	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TCGGTCAGGGCGAACAGCTCC	0.612													T	32513685	C	T	32513685	3	4	84	1	0	0	0	0	1	0	0	0	15887	768	27	1	1194	1	TIAM1	21	32513685	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	792802	32513685	15616210	1465	57008											
SFRS15	57466	broad.mit.edu	37	chr21	33074095	33074095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagacagtttacctgttgGccttgagttgtctgaaacag	11	7	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:33074095G>A	uc002ypd.2	-	6	1020	c.594C>T	c.(592-594)GGC>GGT	p.G198G	SFRS15_uc002ype.2_Silent_p.G198G|SFRS15_uc010glu.2_Silent_p.G183G|SFRS15_uc002ypf.1_5'UTR|SFRS15_uc002ypg.2_Silent_p.G198G	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	198						nucleus	nucleotide binding|RNA binding				0						TTACCTGTTGGCCTTGAGTTG	0.453													A	33074095	G	A	33074095	2	1	84	1	0	0	0	0	0	0	0	1	14171	1190	42	2		2	SFRS15	21	33074095	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	560410	33074095	15055800	1466	57009											
TCP10L	140290	broad.mit.edu	37	chr21	33951127	33951127	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaggtgaaatttttccaaaAgcaggttccaatgcctaaaa	8	7	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:33951127A>T	uc002ypw.3	-	4	491	c.375T>A	c.(373-375)GCT>GCA	p.A125A		NM_144659	NP_653260	Q9NV44	CU077_HUMAN	T-complex 10A-2	Error:Variant_position_missing_in_Q9NV44_after_alignment											0						TTTTTCCAAAAGCAGGTTCCA	0.373													T	33951127	A	T	33951127	2	4	84	1	0	0	0	0	0	0	0	1	15708	59	3	5		5	TCP10L	21	33951127	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	877032	33951127	14178768	1467	57010											
C21orf59	56683	broad.mit.edu	37	chr21	33982209	33982209	+	Frame_Shift_Del	DEL	T	T	-													gcacctccgctgggtacgcaTttttcaccccattcatcctt							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:33982208_33982208AT>A	uc002ypy.2	-	1	612	c.247_247AT>T	c.(247-249)tgcfs	p.C83fs	C21orf59_uc002ypx.1_5'Flank|C21orf59_uc002ypz.2_Frame_Shift_Del_p.C83fs|C21orf59_uc002yqc.3_Frame_Shift_Del_p.C83fs|C21orf59_uc010glx.3_Frame_Shift_Del_p.N6fs|C21orf59_uc002yqb.4_Frame_Shift_Del_p.C83fs|C21orf59_uc011adr.2_Intron	NM_021254	NP_067077	P57076	CU059_HUMAN	Homo sapiens chromosome 21 open reading frame 59 (C21orf59), transcript variant 1, mRNA.	83						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						CTGGGTACGCATTTTTCACCC	0.423													-	33982209	T	-	33982209	7	5	84	1	0	1	0	1	0	0	0	0	2130	1490	52	0	650	0	C21orf59	21	33982209	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	31082	33982209	14147686	1468	57011											
SON	6651	broad.mit.edu	37	chr21	34922824	34922824	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgcctgagttgccaggGccccctgcgacagcagtgcc	13	16	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:34922824G>C	uc002yse.1	+	3	1336	c.1287G>C	c.(1285-1287)GGG>GGC	p.G429G	SON_uc002ysb.1_Silent_p.G429G|SON_uc002ysc.2_Silent_p.G429G|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	429					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						AGTTGCCAGGGCCCCCTGCGA	0.647													C	34922824	G	C	34922824	2	2	84	1	0	0	0	0	0	0	0	1	14926	1190	42	5		5	SON	21	34922824	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	940615	34922824	13207071	1469	57012											
MORC3	23515	broad.mit.edu	37	chr21	37709238	37709238	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaacagtgataaatgaccAtatatgcttgacattcaccg	6	9	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:37709238A>G	uc002yvi.2	+	3	255	c.179A>G	c.(178-180)CAT>CGT	p.H60R		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	60					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						ATAAATGACCATATATGCTTG	0.328													G	37709238	A	G	37709238	3	3	84	1	0	0	0	0	1	0	0	0	9703	217	8	3	189	3	MORC3	21	37709238	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2786414	37709238	10420657	1470	57013											
BRWD1	54014	broad.mit.edu	37	chr21	40570880	40570880	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagattcagagtcttctgagTcactcagaatcttggttttt	8	8	6	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:40570880T>A	uc002yxk.1	-	40	5601	c.5462A>T	c.(5461-5463)GAC>GTC	p.D1821V	BRWD1_uc010goc.1_Missense_Mutation_p.D464V|BRWD1_uc002yxl.2_Missense_Mutation_p.D1821V	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1821					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GTCTTCTGAGTCACTCAGAAT	0.378													A	40570880	T	A	40570880	3	1	84	1	0	0	0	0	1	0	0	0	1525	1667	58	5	1751	5	BRWD1	21	40570880	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	2861642	40570880	7559015	1471	57014											
BACE2	25825	broad.mit.edu	37	chr21	42629207	42629207	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagggcttctacgtcatcttCgacagagcccagaagagggt	13	10	3	3	rs146415207		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:42629207C>T	uc002yyw.2	+	8	1720	c.1257C>T	c.(1255-1257)TTC>TTT	p.F419F	BACE2_uc002yyx.2_Silent_p.F369F|BACE2_uc002yyy.2_Intron|BACE2_uc010goo.2_Intron	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2 isoform A	419	Extracellular (Potential).				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				ACGTCATCTTCGACAGAGCCC	0.557													T	42629207	C	T	42629207	2	4	84	1	0	0	0	0	0	0	0	1	1282	883	31	1		1	BACE2	21	42629207	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2058327	42629207	5500688	1472	57015											
PKNOX1	5316	broad.mit.edu	37	chr21	44448885	44448885	+	Frame_Shift_Del	DEL	A	A	-													cagagacccccaaaacaaagAaaaaaactgctcagaaccgg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:44448884_44448884GA>G	uc002zcq.1	+	9	1187	c.999_999GA>G	c.(997-999)aagfs	p.K333fs	PKNOX1_uc002zcp.1_Frame_Shift_Del_p.K333fs|PKNOX1_uc011aex.1_Frame_Shift_Del_p.K216fs	NM_004571	NP_004562	P55347	PKNX1_HUMAN	Homo sapiens PBX/knotted 1 homeobox 1 (PKNOX1), mRNA.	333							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						CCAAAACAAAGAAAAAAACTG	0.488													-	44448885	A	-	44448885	7	5	84	1	0	1	0	1	0	0	0	0	11982	247	9	0	1034	0	PKNOX1	21	44448885	Frame_Shift_Del	DEL	A	TCGA-BR-8372-01A-11D-2340-08	1819678	44448885	3681010	1473	57016											
RRP1	8568	broad.mit.edu	37	chr21	45217542	45217542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accagaacctgaagttcatcGaccccttctgcagaattgct	7	13	2	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:45217542G>A	uc002zds.2	+	7	676	c.583G>A	c.(583-585)GAC>AAC	p.D195N	RRP1_uc011aez.1_Missense_Mutation_p.D195N|RRP1_uc010gpk.1_Missense_Mutation_p.D45N|RRP1_uc010gpl.1_Missense_Mutation_p.D93N|RRP1_uc010gpm.1_Missense_Mutation_p.D62N	NM_003683	NP_003674	P56182	RRP1_HUMAN	ribosomal RNA processing 1 homolog	195					rRNA processing	nucleolus|preribosome, small subunit precursor					0				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		GAAGTTCATCGACCCCTTCTG	0.612													A	45217542	G	A	45217542	3	1	84	1	0	0	0	0	1	0	0	0	13685	1058	37	1	609	1	RRP1	21	45217542	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	768657	45217542	2912353	1474	57017											
ADARB1	104	broad.mit.edu	37	chr21	46642058	46642058	+	Frame_Shift_Del	DEL	G	G	-													gccttcatcaaggcggggctGggggcctgggtggagaagcc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:46642057_46642057TG>T	uc002zgy.2	+	11	2606	c.2171_2171TG>T	c.(2170-2172)ctgfs	p.L724fs	ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_Intron|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_Frame_Shift_Del_p.L684fs|ADARB1_uc010gpx.2_Non-coding_Transcript|ADARB1_uc002zgr.2_Intron|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript	NM_015833	NP_056648	P78563	RED1_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B1 (ADARB1), transcript variant 2, mRNA.	724	A to I editase.				RNA processing|adenosine to inosine editing|mRNA modification|mRNA processing	nucleoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|mRNA binding|metal ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		AAGGCGGGGCTGGGGGCCTGG	0.637													-	46642058	G	-	46642058	7	5	84	1	0	1	0	1	0	0	0	0	282	1335	47	0	2210	0	ADARB1	21	46642058	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	1424516	46642058	1487837	1475	57018											
SLC19A1	6573	broad.mit.edu	37	chr21	46950869	46950869	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcttcacgaagcccgcggcGaaggacgtgatggcgcctga	14	12	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:46950869G>A	uc002zhl.1	-	4	1085	c.966C>T	c.(964-966)TTC>TTT	p.F322F	SLC19A1_uc010gpy.1_Silent_p.F322F|SLC19A1_uc011aft.1_Silent_p.F282F|SLC19A1_uc002zhm.1_Silent_p.F322F|SLC19A1_uc010gpz.1_Silent_p.F201F	NM_194255	NP_919231	P41440	S19A1_HUMAN	solute carrier family 19 member 1	322	Helical; (Probable).				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity				0				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		AGCCCGCGGCGAAGGACGTGA	0.701													A	46950869	G	A	46950869	2	1	84	1	0	0	0	0	0	0	0	1	14428	1049	37	1		1	SLC19A1	21	46950869	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	308811	46950869	1179026	1476	57019											
PRMT2	3275	broad.mit.edu	37	chr21	48063467	48063467	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaagagcctgctgagtgCagtgaggccggtctcctgca	16	10	1	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:48063467C>T	uc002zjx.2	+	4	374	c.60C>T	c.(58-60)TGC>TGT	p.C20C	PRMT2_uc002zjw.2_Silent_p.C20C|PRMT2_uc002zjy.2_Silent_p.C20C|PRMT2_uc010gqm.2_Silent_p.C20C|PRMT2_uc011aga.1_Silent_p.C20C|PRMT2_uc011agb.1_Silent_p.C20C|PRMT2_uc011agc.1_Silent_p.C20C|PRMT2_uc002zjz.1_5'UTR	NM_206962	NP_996845	P55345	ANM2_HUMAN	HMT1 hnRNP methyltransferase-like 1	20					developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			ovary(1)	1	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		CTGCTGAGTGCAGTGAGGCCG	0.537													T	48063467	C	T	48063467	2	4	84	1	0	0	0	0	0	0	0	1	12537	718	25	2		2	PRMT2	21	48063467	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1112598	48063467	66428	1477	57020											
SLC25A1	6576	broad.mit.edu	37	chr22	19163996	19163996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgtgttccggtatttgtgCgcctccaggccctatggggg	14	12	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:19163996C>T	uc002zoz.2	-	8	874	c.759G>A	c.(757-759)GCG>GCA	p.A253A	SLC25A1_uc002zoy.2_Silent_p.A150A|SLC25A1_uc002zpa.2_Silent_p.A201A	NM_005984	NP_005975	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier;	253	Solcar 3.				gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding				0	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		GGTATTTGTGCGCCTCCAGGC	0.657													T	19163996	C	T	19163996	2	4	84	1	0	0	0	0	0	0	0	1	14471	755	27	1		1	SLC25A1	22	19163996	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08		19163996	32140570	1478	57021											
HIC2	23119	broad.mit.edu	37	chr22	21800189	21800191	+	In_Frame_Del	DEL	GAA	GAA	-													agcctccggcactccactcgGaagaaggagtggggcaagaa							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:21800189_21800191delGAA	uc002zur.3	+	3	1235_1237	c.1005_1007delGAA	c.(1003-1008)CGGAAG>CGG	p.K337del	HIC2_uc002zus.3_In_Frame_Del_p.K337del	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	337					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				ACTCCACTCGGAAGAAGGAGTGG	0.675													-	21800191	GAA	-	21800189	7	5	84	1	0	1	0	1	0	0	0	0	7102	1161	41	0	1011	0	HIC2	22	21800189	In_Frame_Del	DEL	GAA	TCGA-BR-8372-01A-11D-2340-08	2636193	21800189	29504377	1479	57022											
CCDC116	164592	broad.mit.edu	37	chr22	21988331	21988331	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagctgcccaagaagccActggtcccagaaatgcggcc	12	14	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:21988331A>T	uc002zve.2	+	3	186	c.93A>T	c.(91-93)CCA>CCT	p.P31P	CCDC116_uc011aih.1_Silent_p.P31P	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	31										ovary(1)|skin(1)	2	Colorectal(54;0.105)					CCAAGAAGCCACTGGTCCCAG	0.627													T	21988331	A	T	21988331	2	4	84	1	0	0	0	0	0	0	0	1	2753	146	6	5		5	CCDC116	22	21988331	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	188142	21988331	29316235	1480	57023											
MMP11	4320	broad.mit.edu	37	chr22	24122628	24122628	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaggtatggagcgatgtgAcgccactcacctttactgag	11	9	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:24122628A>C	uc002zxx.2	+	3	443	c.421A>C	c.(421-423)ACG>CCG	p.T141P	MMP11_uc002zxy.2_RNA|MMP11_uc002zxz.2_5'Flank	NM_005940	NP_005931	P24347	MMP11_HUMAN	matrix metalloproteinase 11 preproprotein	141					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(2)|large_intestine(1)	3		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				GAGCGATGTGACGCCACTCAC	0.622													C	24122628	A	C	24122628	3	2	84	1	0	0	0	0	1	0	0	0	9650	275	10	5	431	5	MMP11	22	24122628	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2134297	24122628	27181938	1481	57024											
CABIN1	23523	broad.mit.edu	37	chr22	24468323	24468323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcattgactgcagcatggCtgtgcaggaggaggccaagg	17	8	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:24468323C>T	uc002zzi.1	+	18	2622	c.2495C>T	c.(2494-2496)GCT>GTT	p.A832V	CABIN1_uc002zzj.1_Missense_Mutation_p.A782V|CABIN1_uc002zzl.1_Missense_Mutation_p.A832V	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	832					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						TGCAGCATGGCTGTGCAGGAG	0.582													T	24468323	C	T	24468323	3	4	84	1	0	0	0	0	1	0	0	0	2528	797	28	2	2561	2	CABIN1	22	24468323	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	345695	24468323	26836243	1482	57025											
MYO18B	84700	broad.mit.edu	37	chr22	26423136	26423136	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgatgcgggctgtccagaccTtggaaaggagccgcttgttt	14	10	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:26423136T>G	uc003abz.1	+	43	7446	c.7196T>G	c.(7195-7197)CTT>CGT	p.L2399R	MYO18B_uc003aca.1_Missense_Mutation_p.L2280R|MYO18B_uc010guy.1_Missense_Mutation_p.L2281R|MYO18B_uc010guz.1_Missense_Mutation_p.L2279R|MYO18B_uc011aka.1_Missense_Mutation_p.L1553R|MYO18B_uc011akb.1_Missense_Mutation_p.L1912R|MYO18B_uc010gva.1_Missense_Mutation_p.L382R|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2399						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						TGTCCAGACCTTGGAAAGGAG	0.602													G	26423136	T	G	26423136	3	3	84	1	0	0	0	0	1	0	0	0	10066	1609	56	5	7362	5	MYO18B	22	26423136	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	1954813	26423136	24881430	1483	57026											
HPS4	89781	broad.mit.edu	37	chr22	26854542	26854542	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagccaggctgctgtggTactgcaaagggggagagggt	19	6	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:26854542T>C	uc003acl.2	-	12	2374	c.1715A>G	c.(1714-1716)TAC>TGC	p.Y572C	HPS4_uc003aci.2_Missense_Mutation_p.Y567C|HPS4_uc003acj.2_Missense_Mutation_p.Y436C|HPS4_uc003ack.2_Missense_Mutation_p.Y363C|HPS4_uc003acn.2_Missense_Mutation_p.Y418C|HPS4_uc003ach.2_Missense_Mutation_p.Y307C	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	572					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0						GCTGCTGTGGTACTGCAAAGG	0.532									Hermansky-Pudlak_syndrome				C	26854542	T	C	26854542	3	2	84	1	0	0	0	0	1	0	0	0	7341	1652	57	3	423	3	HPS4	22	26854542	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	431406	26854542	24450024	1484	57027											
TPST2	8459	broad.mit.edu	37	chr22	26932299	26932299	+	Frame_Shift_Del	DEL	G	G	-													gggtcagggttgccatagttGggggggtttgcataagggtc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:26932298_26932298TG>T	uc003acw.3	-	3	1338	c.997_997CA>A	c.(997-999)aacfs	p.N333fs	TPST2_uc003acx.3_Frame_Shift_Del_p.N333fs	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	333					peptidyl-tyrosine sulfation	Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TTGCCATAGTTGGGGGGGTTT	0.582													-	26932299	G	-	26932299	7	5	84	1	0	1	0	1	0	0	0	0	16425	1335	47	0	149	0	TPST2	22	26932299	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	77757	26932299	24372267	1485	57028											
ZNRF3	84133	broad.mit.edu	37	chr22	29444421	29444421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccggtttcacaggaagtgCgtggacccctggctgctgca	13	13	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:29444421C>T	uc003aeg.2	+	7	822	c.657C>T	c.(655-657)TGC>TGT	p.C219C	ZNRF3_uc003aeh.1_Silent_p.C219C	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	319	RING-type; atypical.|Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1						ACAGGAAGTGCGTGGACCCCT	0.607													T	29444421	C	T	29444421	2	4	84	1	0	0	0	0	0	0	0	1	18210	776	27	1		1	ZNRF3	22	29444421	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2512122	29444421	21860145	1486	57029											
RFPL1	5988	broad.mit.edu	37	chr22	29838103	29838103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagtccatcctggggagGccaaataagcccccactgca	9	16	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:29838103G>A	uc003afn.2	+	2	1155	c.946G>A	c.(946-948)GCC>ACC	p.A316T	RFPL1S_uc003afm.1_RNA	NM_021026	NP_066306	O75677	RFPL1_HUMAN	ret finger protein-like 1	316							zinc ion binding				0						TCCTGGGGAGGCCAAATAAGC	0.453													A	29838103	G	A	29838103	3	1	84	1	0	0	0	0	1	0	0	0	13253	1203	42	2	952	2	RFPL1	22	29838103	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	393682	29838103	21466463	1487	57030											
NEFH	4744	broad.mit.edu	37	chr22	29879408	29879408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccaaggtgaacacagacGctatgcgctcagcgcaggag	13	12	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:29879408G>A	uc003afo.2	+	2	999	c.928G>A	c.(928-930)GCT>ACT	p.A310T		NM_021076	NP_066554	P12036	NFH_HUMAN	neurofilament, heavy polypeptide 200kDa	310	Coil 2B.|Rod.				cell death|nervous system development	neurofilament					0						GAACACAGACGCTATGCGCTC	0.592													A	29879408	G	A	29879408	3	1	84	1	0	0	0	0	1	0	0	0	10314	1087	38	1	934	1	NEFH	22	29879408	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	41305	29879408	21425158	1488	57031											
THOC5	8563	broad.mit.edu	37	chr22	29945113	29945113	+	Frame_Shift_Del	DEL	T	T	-													cggatcactttgggcttccgTtttttgctcgattctgatga							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:29945112_29945112GT>G	uc003afr.3	-	2	360	c.25_25AC>C	c.(25-27)cggfs	p.R9fs	THOC5_uc003afs.3_Frame_Shift_Del_p.R9fs|THOC5_uc003aft.3_Frame_Shift_Del_p.R9fs|THOC5_uc003afu.3_Frame_Shift_Del_p.R9fs|THOC5_uc003afv.1_Frame_Shift_Del_p.R9fs	NM_001002878	NP_003669	Q13769	THOC5_HUMAN	Homo sapiens THO complex 5 (THOC5), transcript variant 1, mRNA.	9	Interaction with CSF1R (By similarity).|Interaction with THOC7.				RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing|monocyte differentiation|primitive hemopoiesis	THO complex part of transcription export complex|cytoplasm|intermediate filament cytoskeleton	RNA binding|protein binding	p.R9G(2)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGGGCTTCCGTTTTTTGCTC	0.478													-	29945113	T	-	29945113	7	5	84	1	0	1	0	1	0	0	0	0	15865	1722	60	0	2103	0	THOC5	22	29945113	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	65705	29945113	21359453	1489	57032											
MTMR3	8897	broad.mit.edu	37	chr22	30403132	30403132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatggagctgtcattgcccGctgtggacagccagaggtta	13	10	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:30403132G>A	uc003agv.3	+	10	1029	c.701G>A	c.(700-702)CGC>CAC	p.R234H	MTMR3_uc003agu.3_Missense_Mutation_p.R234H|MTMR3_uc003agw.3_Missense_Mutation_p.R234H	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	234	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GTCATTGCCCGCTGTGGACAG	0.507													A	30403132	G	A	30403132	3	1	84	1	0	0	0	0	1	0	0	0	9945	1087	38	1	731	1	MTMR3	22	30403132	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	458019	30403132	20901434	1490	57033											
SFI1	9814	broad.mit.edu	37	chr22	32010792	32010792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaacactgcccactcagCgaggaagcagccgcgacgcc	11	17	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:32010792C>T	uc003ale.2	+	28	3407	c.3014C>T	c.(3013-3015)GCG>GTG	p.A1005V	SFI1_uc003alf.2_Missense_Mutation_p.A974V|SFI1_uc003alg.2_Missense_Mutation_p.A923V|SFI1_uc011alp.1_Missense_Mutation_p.A911V|SFI1_uc011alq.1_Missense_Mutation_p.A950V|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA|SFI1_uc003ali.2_Missense_Mutation_p.A97V|SFI1_uc003alj.2_Nonsense_Mutation_p.R77*	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	1005					G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						GCCCACTCAGCGAGGAAGCAG	0.632													T	32010792	C	T	32010792	3	4	84	1	0	0	0	0	1	0	0	0	14156	768	27	1	3120	1	SFI1	22	32010792	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1607660	32010792	19293774	1491	57034											
SLC5A1	6523	broad.mit.edu	37	chr22	32498181	32498181	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccatttctttcatcaccaTcgtggtcatctccctcctca	4	17	6	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:32498181T>C	uc003amc.2	+	13	1854	c.1622T>C	c.(1621-1623)ATC>ACC	p.I541T	SLC5A1_uc011alz.1_Missense_Mutation_p.I414T	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	541	Helical; (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						TTCATCACCATCGTGGTCATC	0.488													C	32498181	T	C	32498181	3	2	84	1	0	0	0	0	1	0	0	0	14661	1435	50	3	1672	3	SLC5A1	22	32498181	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	487389	32498181	18806385	1492	57035											
SLC5A4	6527	broad.mit.edu	37	chr22	32620257	32620257	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattactcatcactcacatgTacatcaggaatgggttttgt	7	9	4	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:32620257T>C	uc003ami.2	-	13	1664	c.1662A>G	c.(1660-1662)GTA>GTG	p.V554V		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	554	Cytoplasmic (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						CACTCACATGTACATCAGGAA	0.294													C	32620257	T	C	32620257	2	2	84	1	0	0	0	0	0	0	0	1	14667	1625	57	3		3	SLC5A4	22	32620257	Silent	SNP	T	TCGA-BR-8372-01A-11D-2340-08	122076	32620257	18684309	1493	57036											
C22orf28	51493	broad.mit.edu	37	chr22	32792083	32792083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacgggttaagaaggtcatgGaagagcggttgacccaggca	16	7	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:32792083G>A	uc003amm.2	-	8	1099	c.968C>T	c.(967-969)TCC>TTC	p.S323F	C22orf28_uc011ama.1_RNA	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	hypothetical protein LOC51493	323					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding				0						GAAGGTCATGGAAGAGCGGTT	0.483													A	32792083	G	A	32792083	3	1	84	1	0	0	0	0	1	0	0	0	2140	1174	41	4	569	4	C22orf28	22	32792083	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	171826	32792083	18512483	1494	57037											
MICALL1	85377	broad.mit.edu	37	chr22	38323791	38323791	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggttggagacaggagcccGgtgccttcccctggaagctc	14	12	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:38323791G>T	uc003aui.2	+	9	1923	c.1839G>T	c.(1837-1839)CCG>CCT	p.P613P		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13	613	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)					ACAGGAGCCCGGTGCCTTCCC	0.642													T	38323791	G	T	38323791	2	4	84	1	0	0	0	0	0	0	0	1	9573	1103	39	5		5	MICALL1	22	38323791	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	5531708	38323791	12980775	1495	57038											
MAFF	23764	broad.mit.edu	37	chr22	38610598	38610598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacgccgccagctgccgcGtgaagcgcgtgtgccagaag	15	14	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:38610598G>A	uc011anp.1	+	3	546	c.208G>A	c.(208-210)GTG>ATG	p.V70M	MAFF_uc003avc.2_Missense_Mutation_p.V70M|MAFF_uc011anq.1_Missense_Mutation_p.V41M|MAFF_uc011anr.1_Missense_Mutation_p.V70M|MAFF_uc003avd.2_Missense_Mutation_p.R119H	NM_001161572	NP_001155044	Q9ULX9	MAFF_HUMAN	transcription factor MAFF isoform a	70	Basic motif.				blood coagulation|parturition|transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Melanoma(58;0.045)					CAGCTGCCGCGTGAAGCGCGT	0.682													A	38610598	G	A	38610598	3	1	84	1	0	0	0	0	1	0	0	0	9159	1145	40	1	214	1	MAFF	22	38610598	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	286807	38610598	12693968	1496	57039											
GTPBP1	9567	broad.mit.edu	37	chr22	39122294	39122294	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggtttcggggacaacacTgagaggcctgatcaagctga	14	8	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:39122294T>C	uc003awg.2	+	8	1404	c.1250T>C	c.(1249-1251)CTG>CCG	p.L417P		NM_004286	NP_004277	O00178	GTPB1_HUMAN	GTP binding protein 1	417					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			ovary(1)	1	Melanoma(58;0.04)					GGGACAACACTGAGAGGCCTG	0.577													C	39122294	T	C	39122294	3	2	84	1	0	0	0	0	1	0	0	0	6878	1580	55	3	1280	3	GTPBP1	22	39122294	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	511696	39122294	12182272	1497	57040											
CACNA1I	8911	broad.mit.edu	37	chr22	40068244	40068244	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtactgcaactatatgttcaCcactgtctttgtgctggagg	10	9	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:40068244C>A	uc003ayc.2	+	27	4580	c.4580C>A	c.(4579-4581)ACC>AAC	p.T1527N	CACNA1I_uc003ayd.2_Missense_Mutation_p.T1492N|CACNA1I_uc003aye.2_Missense_Mutation_p.T1442N|CACNA1I_uc003ayf.2_Missense_Mutation_p.T1407N	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1527	Helical; Name=S2 of repeat IV; (Potential).|IV.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TATATGTTCACCACTGTCTTT	0.517													A	40068244	C	A	40068244	3	1	84	1	0	0	0	0	1	0	0	0	2546	507	18	5	4686	5	CACNA1I	22	40068244	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	945950	40068244	11236322	1498	57041											
TNRC6B	23112	broad.mit.edu	37	chr22	40681709	40681709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagaggtctgcacacacccGtgcagccactaaattcttct	8	14	3	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:40681709G>A	uc011aor.1	+	12	3854	c.3643G>A	c.(3643-3645)GTG>ATG	p.V1215M	TNRC6B_uc003aym.2_Missense_Mutation_p.V411M|TNRC6B_uc003ayn.3_Missense_Mutation_p.V1105M|TNRC6B_uc003ayo.2_Missense_Mutation_p.V962M	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	1215	Gln-rich.				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						GCACACACCCGTGCAGCCACT	0.473													A	40681709	G	A	40681709	3	1	84	1	0	0	0	0	1	0	0	0	16338	1145	40	1	3810	1	TNRC6B	22	40681709	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	613465	40681709	10622857	1499	57042											
EP300	2033	broad.mit.edu	37	chr22	41566520	41566520	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccaagcgactgcaggaatGgtacaaaaaaatgcttgaca	10	9	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:41566520G>T	uc003azl.3	+	27	4792	c.4397G>T	c.(4396-4398)TGG>TTG	p.W1466L		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1466					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CTGCAGGAATGGTACAAAAAA	0.478			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				T	41566520	G	T	41566520	3	4	84	1	0	0	0	0	1	0	0	0	5148	1357	47	5	4503	5	EP300	22	41566520	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	884811	41566520	9738046	1500	57043											
TOB2	10766	broad.mit.edu	37	chr22	41832766	41832766	+	Frame_Shift_Del	DEL	C	C	-													ccccaccacttgctgccccgCcccccttcttcatcttagtg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:41832765_41832765GC>G	uc003azz.1	-	1	1292	c.585_585GC>C	c.(583-585)ggcfs	p.G195fs	TOB2_uc021wqf.1_Frame_Shift_Del_p.G195fs	NM_016272	NP_057356	Q14106	TOB2_HUMAN	Homo sapiens transducer of ERBB2, 2 (TOB2), mRNA.	195					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus		p.G195fs*9(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						TTGCTGCCCCGCCCCCCTTCT	0.652													-	41832766	C	-	41832766	7	5	84	1	0	1	0	1	0	0	0	0	16345	739	26	0	454	0	TOB2	22	41832766	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	266246	41832766	9471800	1501	57044											
TTLL12	23170	broad.mit.edu	37	chr22	43576915	43576915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcgcgcgtgctccacacGgcacgtccaggcgtggtcga	15	15	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:43576915G>A	uc003bdq.2	-	3	411	c.379C>T	c.(379-381)CGT>TGT	p.R127C	TTLL12_uc003bdr.1_Missense_Mutation_p.R127C	NM_015140	NP_055955	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	127					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)	1		Ovarian(80;0.221)|Glioma(61;0.222)				TGCTCCACACGGCACGTCCAG	0.662													A	43576915	G	A	43576915	3	1	84	1	0	0	0	0	1	0	0	0	16722	1116	39	1	1603	1	TTLL12	22	43576915	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1744149	43576915	7727651	1502	57045											
PKDREJ	10343	broad.mit.edu	37	chr22	46657010	46657010	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaaagactgatcgatgAggtgttttcggagattgact	14	4	0	5			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:46657010A>T	uc003bhh.2	-	1	2210	c.2210T>A	c.(2209-2211)CTC>CAC	p.L737H		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	737	Extracellular (Potential).|REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTGATCGATGAGGTGTTTTCG	0.398													T	46657010	A	T	46657010	3	4	84	1	0	0	0	0	1	0	0	0	11970	304	11	5	4555	5	PKDREJ	22	46657010	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	3080095	46657010	4647556	1503	57046											
BRD1	23774	broad.mit.edu	37	chr22	50217867	50217867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatcctttgagcttgagcGtaggtcagcgtttctcgcgt	11	11	2	2	rs149523607	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:50217867G>A	uc003biv.2	-	1	586	c.99C>T	c.(97-99)TAC>TAT	p.Y33Y	BRD1_uc011arf.1_Translation_Start_Site|BRD1_uc011arg.1_Silent_p.Y33Y|BRD1_uc011arh.1_Silent_p.Y33Y|BRD1_uc003biu.3_Silent_p.Y33Y	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	33					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GAGCTTGAGCGTAGGTCAGCG	0.493													A	50217867	G	A	50217867	2	1	84	1	0	0	0	0	0	0	0	1	1501	1140	40	1		1	BRD1	22	50217867	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	3560857	50217867	1086699	1504	57047											
CRELD2	79174	broad.mit.edu	37	chr22	50313464	50313464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctagaggcgcaggaggagcAcctggaggcctggtggctgc	19	10	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:50313464A>G	uc003bja.2	+	3	434	c.299A>G	c.(298-300)CAC>CGC	p.H100R	ALG12_uc003biy.2_5'Flank|CRELD2_uc003biz.3_Missense_Mutation_p.H100R|CRELD2_uc010haj.2_Missense_Mutation_p.H100R|CRELD2_uc010hal.2_Missense_Mutation_p.H100R|CRELD2_uc010hak.2_Missense_Mutation_p.H100R|CRELD2_uc010ham.2_Missense_Mutation_p.H100R	NM_024324	NP_077300	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2 isoform b	100						endoplasmic reticulum|extracellular region	calcium ion binding				0		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGAGGAGCACCTGGAGGCC	0.443													G	50313464	A	G	50313464	3	3	84	1	0	0	0	0	1	0	0	0	3867	159	6	3	309	3	CRELD2	22	50313464	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	95597	50313464	991102	1505	57048											
IL17REL	400935	broad.mit.edu	37	chr22	50439591	50439591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcatggcagtggaggacGtcagggcctccaggactgac	15	11	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:50439591G>A	uc003bje.1	-	4	261	c.29C>T	c.(28-30)ACG>ATG	p.T10M		NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	10										pancreas(1)	1		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGTGGAGGACGTCAGGGCCTC	0.642													A	50439591	G	A	50439591	3	1	84	1	0	0	0	0	1	0	0	0	7644	1145	40	1	1025	1	IL17REL	22	50439591	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	126127	50439591	864975	1506	57049											
CHKB	1120	broad.mit.edu	37	chr22	51017908	51017908	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggaggatggaccacagacCccagaagaaatgggatgcca	13	10	0	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:51017908C>A	uc003bms.2	-	10	1278	c.1060G>T	c.(1060-1062)GGT>TGT	p.G354C	CPT1B_uc003bmk.3_5'Flank|CPT1B_uc003bml.2_5'Flank|CPT1B_uc003bmm.2_5'Flank|CPT1B_uc003bmo.2_5'Flank|CPT1B_uc011asa.1_5'Flank|CPT1B_uc003bmn.2_5'Flank|CPT1B_uc011asb.1_5'Flank|CHKB-CPT1B_uc003bmp.2_5'UTR|CHKB-CPT1B_uc003bmt.1_Missense_Mutation_p.G145C|CHKB-CPT1B_uc003bmu.2_Missense_Mutation_p.G233C|CHKB_uc003bmv.2_Missense_Mutation_p.G354C	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	choline kinase beta	354					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity				0		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	GACCACAGACCCCAGAAGAAA	0.567													A	51017908	C	A	51017908	3	1	84	1	0	0	0	0	1	0	0	0	3348	623	22	5	135	5	CHKB	22	51017908	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	578317	51017908	286658	1507	57050											
PPP2R3B	28227	broad.mit.edu	37	chrX	306359	306359	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgctcgtacgagaagaAttcggtcagctggttgatgt	13	6	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:306359A>T	uc004cpg.2	-	7	1129	c.928T>A	c.(928-930)TTC>ATC	p.F310I	PPP2R3B_uc011mha.1_Missense_Mutation_p.F149I	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	310					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TACGAGAAGAATTCGGTCAGC	0.627													T	306359	A	T	306359	3	4	84	1	0	0	0	0	1	0	0	0	12389	101	4	5	827	5	PPP2R3B	23	306359	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08		306359	154964201	1508	57051											
ARSD	414	broad.mit.edu	37	chrX	2825315	2825315	+	Frame_Shift_Del	DEL	G	G	-													tctcacagtcctggcattcaGggggtgccatccccatcctc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:2825315delG	uc004cqy.2	-	10	1855	c.1779delC	c.(1777-1779)CCCfs	p.P593fs	ARSD_uc004cqz.1_RNA	NM_001669	NP_001660	P51689	ARSD_HUMAN	arylsulfatase D isoform a precursor	593						lysosome	arylsulfatase activity|metal ion binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGGCATTCAGGGGGTGCCAT	0.537													-	2825315	G	-	2825315	7	5	84	1	0	1	0	1	0	0	0	0	989	987	35	0	6	0	ARSD	23	2825315	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	2518956	2825315	152445245	1509	57052											
HDHD1A	8226	broad.mit.edu	37	chrX	6995384	6995384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaaaacaagctgaagaaCtccttgtggcggcttgtctt	12	8	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:6995384C>T	uc004crv.2	-	3	464	c.387G>A	c.(385-387)GAG>GAA	p.E129E	HDHD1A_uc011mhm.1_Silent_p.E152E|HDHD1A_uc011mhn.1_Silent_p.E86E|HDHD1A_uc010ndl.2_Intron|HDHD1A_uc011mho.1_Silent_p.E129E	NM_012080	NP_036212	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain	129					nucleotide metabolic process		metal ion binding|phosphatase activity				0		Colorectal(8;0.0114)|Medulloblastoma(8;0.184)				AGCTGAAGAACTCCTTGTGGC	0.552													T	6995384	C	T	6995384	2	4	84	1	0	0	0	0	0	0	0	1	7022	564	20	4		4	HDHD1A	23	6995384	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	4170069	6995384	148275176	1510	57053											
STS	412	broad.mit.edu	37	chrX	7252076	7252076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttgaaggaaaaagccaaCgctccgatcatgagtttctc	9	10	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:7252076C>T	uc004cry.3	+	9	1551	c.1306C>T	c.(1306-1308)CGC>TGC	p.R436C		NM_000351	NP_000342	P08842	STS_HUMAN	steryl-sulfatase precursor	436	Lumenal.				female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			central_nervous_system(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	AAAAAGCCAACGCTCCGATCA	0.493									Ichthyosis				T	7252076	C	T	7252076	3	4	84	1	0	0	0	0	1	0	0	0	15331	536	19	1	1340	1	STS	23	7252076	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	256692	7252076	148018484	1511	57054											
KAL1	3730	broad.mit.edu	37	chrX	8502392	8502392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtgggagctccggcgtcCggaacgtcttgatggtggcc	18	10	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:8502392C>T	uc004csf.2	-	13	2102	c.1952G>A	c.(1951-1953)CGG>CAG	p.R651Q		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	651	Fibronectin type-III 4.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						CTCCGGCGTCCGGAACGTCTT	0.572													T	8502392	C	T	8502392	3	4	84	1	0	0	0	0	1	0	0	0	7974	652	23	1	98	1	KAL1	23	8502392	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1250316	8502392	146768168	1512	57055											
ASB11	140456	broad.mit.edu	37	chrX	15306176	15306176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggggtgtccagccactggCcatggtcgacactggctcct	14	13	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:15306176C>T	uc004cwp.1	-	6	674	c.674G>A	c.(673-675)GGC>GAC	p.G225D	ASB11_uc004cwo.1_Missense_Mutation_p.G204D|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Missense_Mutation_p.G208D	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box-containing protein	225					intracellular signal transduction					breast(2)|skin(1)	3	Hepatocellular(33;0.183)					CAGCCACTGGCCATGGTCGAC	0.463													T	15306176	C	T	15306176	3	4	84	1	0	0	0	0	1	0	0	0	1015	739	26	2	305	2	ASB11	23	15306176	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	6803784	15306176	139964384	1513	57056											
CDKL5	6792	broad.mit.edu	37	chrX	18622715	18622715	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgagggaacgctggactcAcgtcgaaccacaaccagaca	10	12	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:18622715A>G	uc004cym.2	+	12	1924	c.1671A>G	c.(1669-1671)TCA>TCG	p.S557S	CDKL5_uc004cyn.2_Silent_p.S557S	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	557					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					CGCTGGACTCACGTCGAACCA	0.517													G	18622715	A	G	18622715	2	3	84	1	0	0	0	0	0	0	0	1	3157	146	6	3		3	CDKL5	23	18622715	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	3316539	18622715	136647845	1514	57057											
CNKSR2	22866	broad.mit.edu	37	chrX	21609255	21609256	+	Frame_Shift_Ins	INS	-	-	A													gttacttttcacagaaatggINSaaaaaatattggtttgtcct							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:21609255_21609256insA	uc004czx.1	+	15	1809_1810	c.1773_1774insA	c.(1771-1776)TGGAAAfs	p.W591fs	CNKSR2_uc004czw.2_Frame_Shift_Ins_p.W591fs|CNKSR2_uc011mjn.1_Frame_Shift_Ins_p.W542fs|CNKSR2_uc011mjo.1_Frame_Shift_Ins_p.W561fs|CNKSR2_uc004czy.2_Frame_Shift_Ins_p.W183fs	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	591_592	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						CACAGAAATGGAAAAAATATTG	0.376													A	21609256	-	A	21609255	7	5	84	1	0	1	1	0	0	0	0	0	3607	1183	41	0	1831	0	CNKSR2	23	21609255	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	2986540	21609255	133661305	1515	57058	251	2									
CNKSR2	22866	broad.mit.edu	37	chrX	21609256	21609257	+	Frame_Shift_Ins	INS	-	-	A													ttacttttcacagaaatggaINSaaaaatattggtttgtccta							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:21609255_21609256G>GA	uc004czx.2	+	14	2253_2254	c.1773_1774G>GA	c.(1771-1776)tggaaafs	p.W591fs	CNKSR2_uc004czw.3_Frame_Shift_Ins_p.W591fs|CNKSR2_uc011mjn.2_Frame_Shift_Ins_p.W542fs|CNKSR2_uc011mjo.2_Frame_Shift_Ins_p.W561fs|CNKSR2_uc004czy.3_Frame_Shift_Ins_p.W183fs	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	591	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding	p.W591L(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CACAGAAATGGAAAAAATATTG	0.376													A	21609257	-	A	21609256	7	5	84	1	0	1	1	0	0	0	0	0	3607	247	9	0	1832	0	CNKSR2	23	21609256	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	1	21609256	133661304	1516	57059	251	2									
PTCHD1	139411	broad.mit.edu	37	chrX	23410726	23410726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacatgttaaagagagaaCtgcagcagtctatgcagact	9	9	1	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:23410726C>T	uc004dal.3	+	3	1099	c.1091C>T	c.(1090-1092)ACT>ATT	p.T364I		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	364	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						AAAGAGAGAACTGCAGCAGTC	0.463													T	23410726	C	T	23410726	3	4	84	1	0	0	0	0	1	0	0	0	12732	565	20	4	1101	4	PTCHD1	23	23410726	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1801470	23410726	131859834	1517	57060											
BCOR	54880	broad.mit.edu	37	chrX	39933822	39933822	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatgggtgatgccaaggaCgatgggatgtggggaccgac	17	8	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:39933822C>T	uc004den.3	-	4	1069	c.777G>A	c.(775-777)TCG>TCA	p.S259S	BCOR_uc004dep.3_Silent_p.S259S|BCOR_uc004deo.3_Silent_p.S259S|BCOR_uc004dem.3_Silent_p.S259S|BCOR_uc004deq.3_Silent_p.S259S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	259					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						ATGCCAAGGACGATGGGATGT	0.622													T	39933822	C	T	39933822	2	4	84	1	0	0	0	0	0	0	0	1	1386	523	19	1		1	BCOR	23	39933822	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	16523096	39933822	115336738	1518	57061											
MED14	9282	broad.mit.edu	37	chrX	40547715	40547715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggcttactttaataagCgaattgcatggctgaagcca	11	8	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:40547715C>T	uc004dex.3	-	16	2188	c.2048G>A	c.(2047-2049)CGC>CAC	p.R683H		NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	683	Interaction with SREBF1.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4						CTTTAATAAGCGAATTGCATG	0.428													T	40547715	C	T	40547715	3	4	84	1	0	0	0	0	1	0	0	0	9432	768	27	1	2380	1	MED14	23	40547715	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	613893	40547715	114722845	1519	57062											
SLC38A5	92745	broad.mit.edu	37	chrX	48320459	48320459	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttggctggggagtcccacGagagcttcactctccattgc	11	14	2	1	rs142925547	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:48320459G>A	uc010nid.2	-	11	883	c.705C>T	c.(703-705)CTC>CTT	p.L235L	SLC38A5_uc004djk.3_Silent_p.L184L	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	235	Extracellular (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				ovary(3)	3						GGAGTCCCACGAGAGCTTCAC	0.537													A	48320459	G	A	48320459	2	1	84	1	0	0	0	0	0	0	0	1	14607	1045	37	1		1	SLC38A5	23	48320459	Silent	SNP	G	TCGA-BR-8372-01A-11D-2340-08	7772744	48320459	106950101	1520	57063											
KCND1	3750	broad.mit.edu	37	chrX	48826019	48826019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcgttcgccacagggctgCtcccttgaggacctgcgtgc	13	14	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:48826019C>T	uc004dlx.1	-	1	2233	c.660G>A	c.(658-660)GAG>GAA	p.E220E	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	220						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3						CACAGGGCTGCTCCCTTGAGG	0.577													T	48826019	C	T	48826019	2	4	84	1	0	0	0	0	0	0	0	1	8018	796	28	2		2	KCND1	23	48826019	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	505560	48826019	106444541	1521	57064											
SHROOM4	57477	broad.mit.edu	37	chrX	50350731	50350731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcttcttcttcttcttcCtcctcctcctcctcctcctg	1	21	5	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:50350731C>T	uc004dpe.2	-	6	3437	c.3411G>A	c.(3409-3411)GAG>GAA	p.E1137E	SHROOM4_uc004dpd.3_RNA	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1137	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					cttcttcttcctcctcctcct	0.219													T	50350731	C	T	50350731	2	4	84	1	0	0	0	0	0	0	0	1	14296	680	24	4		4	SHROOM4	23	50350731	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1524712	50350731	104919829	1522	57065											
MAGED1	9500	broad.mit.edu	37	chrX	51639798	51639798	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atttggccaaacccagtaatCtggcagaacccagtgatctg	9	11	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:51639798C>A	uc004dpm.2	+	4	1142	c.1047C>A	c.(1045-1047)ATC>ATA	p.I349I	MAGED1_uc004dpn.2_Silent_p.I405I|MAGED1_uc004dpo.2_Silent_p.I349I	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform b	349	6.|22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)					ACCCAGTAATCTGGCAGAACC	0.612										Multiple Myeloma(10;0.10)			A	51639798	C	A	51639798	2	1	84	1	0	0	0	0	0	0	0	1	9183	903	32	5		5	MAGED1	23	51639798	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1289067	51639798	103630762	1523	57066											
IQSEC2	23096	broad.mit.edu	37	chrX	53285177	53285177	+	Frame_Shift_Del	DEL	G	G	-													ggcagctggctcagccggtaGgggggttggctcccaggact							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:53285177delG	uc004dsd.2	-	3	1005	c.804delC	c.(802-804)CCCfs	p.P268fs	IQSEC2_uc004dsc.2_Frame_Shift_Del_p.P63fs	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	258					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						TCAGCCGGTAGGGGGGTTGGC	0.672													-	53285177	G	-	53285177	7	5	84	1	0	1	0	1	0	0	0	0	7818	987	35	0	3714	0	IQSEC2	23	53285177	Frame_Shift_Del	DEL	G	TCGA-BR-8372-01A-11D-2340-08	1645379	53285177	101985383	1524	57067											
AR	367	broad.mit.edu	37	chrX	66765883	66765883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctctgctagacgacagcGcaggcaagagcactgaagat	12	10	1	4			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:66765883G>A	uc004dwu.1	+	1	2010	c.895G>A	c.(895-897)GCA>ACA	p.A299T	AR_uc011mpd.1_Missense_Mutation_p.A299T|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.A299T	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	297	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	AGACGACAGCGCAGGCAAGAG	0.572									Androgen_Insensitivity_Syndrome				A	66765883	G	A	66765883	3	1	84	1	0	0	0	0	1	0	0	0	836	1087	38	1	897	1	AR	23	66765883	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	13480706	66765883	88504677	1525	57068											
FAM155B	27112	broad.mit.edu	37	chrX	68725963	68725963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcggaagagtactcaatcCggtcctgcacgaaaggctgt	13	10	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:68725963C>T	uc004dxk.2	+	1	886	c.838C>T	c.(838-840)CGG>TGG	p.R280W		NM_015686	NP_056501	O75949	F155B_HUMAN	transmembrane protein 28	280						integral to membrane				ovary(1)|breast(1)	2						GTACTCAATCCGGTCCTGCAC	0.587													T	68725963	C	T	68725963	3	4	84	1	0	0	0	0	1	0	0	0	5466	643	23	1	840	1	FAM155B	23	68725963	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	1960080	68725963	86544597	1526	57069											
NLGN3	54413	broad.mit.edu	37	chrX	70368014	70368014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttacatccaggagcccaacGaagactgtctctacctgaac	7	14	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:70368014G>A	uc004dzd.1	+	1	615	c.415G>A	c.(415-417)GAA>AAA	p.E139K	NLGN3_uc010nlb.1_Missense_Mutation_p.E139K|NLGN3_uc004dzb.2_Missense_Mutation_p.E139K|NLGN3_uc004dzc.2_Missense_Mutation_p.E22K|NLGN3_uc011mps.1_Missense_Mutation_p.E139K|NLGN3_uc011mpr.1_Missense_Mutation_p.E139K	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	139	Extracellular (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)					GGAGCCCAACGAAGACTGTCT	0.597													A	70368014	G	A	70368014	3	1	84	1	0	0	0	0	1	0	0	0	10463	1059	37	1	417	1	NLGN3	23	70368014	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	1642051	70368014	84902546	1527	57070											
ERCC6L	54821	broad.mit.edu	37	chrX	71425719	71425719	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctaaagactgactggaaaaAttttgtctgttgtctgctga	9	6	3	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:71425719A>T	uc004eaq.1	-	2	2995	c.2898T>A	c.(2896-2898)AAT>AAA	p.N966K	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.N843K	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	966					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)					GACTGGAAAAATTTTGTCTGT	0.423													T	71425719	A	T	71425719	3	4	84	1	0	0	0	0	1	0	0	0	5218	98	4	5	858	5	ERCC6L	23	71425719	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1057705	71425719	83844841	1528	57071											
BRWD3	254065	broad.mit.edu	37	chrX	79962956	79962956	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcactttgccattcaacaAcaggatcctctaccgaagcg	6	13	3	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:79962956A>G	uc004edt.2	-	22	2785	c.2522T>C	c.(2521-2523)GTT>GCT	p.V841A	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.V437A|BRWD3_uc004edp.2_Missense_Mutation_p.V670A|BRWD3_uc004edq.2_Missense_Mutation_p.V437A|BRWD3_uc010nmj.1_Missense_Mutation_p.V437A|BRWD3_uc004edr.2_Missense_Mutation_p.V511A|BRWD3_uc004eds.2_Missense_Mutation_p.V437A|BRWD3_uc004edu.2_Missense_Mutation_p.V511A|BRWD3_uc004edv.2_Missense_Mutation_p.V437A|BRWD3_uc004edw.2_Missense_Mutation_p.V437A|BRWD3_uc004edx.2_Missense_Mutation_p.V437A|BRWD3_uc004edy.2_Missense_Mutation_p.V437A|BRWD3_uc004edz.2_Missense_Mutation_p.V511A|BRWD3_uc004eea.2_Missense_Mutation_p.V511A|BRWD3_uc004eeb.2_Missense_Mutation_p.V437A	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	841										ovary(4)	4						CCATTCAACAACAGGATCCTC	0.348													G	79962956	A	G	79962956	3	3	84	1	0	0	0	0	1	0	0	0	1526	43	2	3	2966	3	BRWD3	23	79962956	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	8537237	79962956	75307604	1529	57072											
RPS6KA6	27330	broad.mit.edu	37	chrX	83403063	83403063	+	Frame_Shift_Del	DEL	T	T	-													tttctaccttttaaagaggcTttttttaacaccttcattgc							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:83403063delT	uc004eej.1	-	4	404	c.327delA	c.(325-327)AAAfs	p.K109fs	RPS6KA6_uc011mqt.1_Frame_Shift_Del_p.K109fs|RPS6KA6_uc011mqu.1_Frame_Shift_Del_p.K6fs|RPS6KA6_uc010nmo.1_RNA	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	109	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						TTAAAGAGGCTTTTTTTAACA	0.303													-	83403063	T	-	83403063	7	5	84	1	0	1	0	1	0	0	0	0	13655	1606	56	0	1986	0	RPS6KA6	23	83403063	Frame_Shift_Del	DEL	T	TCGA-BR-8372-01A-11D-2340-08	3440107	83403063	71867497	1530	57073											
CPXCR1	53336	broad.mit.edu	37	chrX	88009023	88009023	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagaaggccttcgagggtgcActactaccgtcccctcactg	10	14	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:88009023A>T	uc004efd.3	+	3	867	c.608A>T	c.(607-609)CAC>CTC	p.H203L	CPXCR1_uc004efc.3_Missense_Mutation_p.H203L	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	203						intracellular	zinc ion binding			ovary(3)	3						TCGAGGGTGCACTACTACCGT	0.428													T	88009023	A	T	88009023	3	4	84	1	0	0	0	0	1	0	0	0	3836	159	6	5	610	5	CPXCR1	23	88009023	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	4605960	88009023	67261537	1531	57074											
PCDH19	57526	broad.mit.edu	37	chrX	99663109	99663109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgagctcgtaagtctgcaCgccaaagcttcctgagtctg	11	12	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:99663109C>T	uc010nmz.2	-	1	2163	c.487G>A	c.(487-489)GTG>ATG	p.V163M	PCDH19_uc004efw.3_Missense_Mutation_p.V163M|PCDH19_uc004efx.3_Missense_Mutation_p.V163M	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	163	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						TAAGTCTGCACGCCAAAGCTT	0.637													T	99663109	C	T	99663109	3	4	84	1	0	0	0	0	1	0	0	0	11514	536	19	1	2983	1	PCDH19	23	99663109	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	11654086	99663109	55607451	1532	57075											
GPRASP2	114928	broad.mit.edu	37	chrX	101971716	101971716	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcgagattcaggtgttgTctcacttattgaaaccttgc	8	9	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:101971716T>C	uc004ejk.2	+	4	3253	c.1919T>C	c.(1918-1920)GTC>GCC	p.V640A	GPRASP2_uc004ejl.2_Missense_Mutation_p.V640A|GPRASP2_uc004ejm.2_Missense_Mutation_p.V640A|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	640						cytoplasm	protein binding			ovary(1)	1						TCAGGTGTTGTCTCACTTATT	0.348													C	101971716	T	C	101971716	3	2	84	1	0	0	0	0	1	0	0	0	6723	1667	58	3	1921	3	GPRASP2	23	101971716	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	2308607	101971716	53298844	1533	57076											
H2BFWT	158983	broad.mit.edu	37	chrX	103267750	103267750	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggtgtacctgaggacAgccttcgtgccttcggactc	11	14	0	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:103267750A>G	uc004elr.2	-	1	507	c.483T>C	c.(481-483)GCT>GCC	p.A161A		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	161					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			ovary(1)	1						ACCTGAGGACAGCCTTCGTGC	0.637													G	103267750	A	G	103267750	2	3	84	1	0	0	0	0	0	0	0	1	6932	175	7	3		3	H2BFWT	23	103267750	Silent	SNP	A	TCGA-BR-8372-01A-11D-2340-08	1296034	103267750	52002810	1534	57077											
IRS4	8471	broad.mit.edu	37	chrX	107977803	107977804	+	Frame_Shift_Ins	INS	-	-	C													cccacttcctgagcctttgcINScccccccagagttcttgcca							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:107977802_107977803G>GC	uc004eoc.2	-	0	1805_1806	c.1772_1773C>GC	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													C	107977804	-	C	107977803	7	5	84	1	0	1	1	0	0	0	0	0	7842	739	26	0	2005	0	IRS4	23	107977803	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	4710053	107977803	47292757	1535	57078											
GLUD2	2747	broad.mit.edu	37	chrX	120182454	120182454	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttagagataaaacatttgttGttcagggatttggtaatgtg	11	2	1	1			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:120182454G>T	uc004eto.2	+	1	993	c.916G>T	c.(916-918)GTT>TTT	p.V306F		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	306					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)	AACATTTGTTGTTCAGGGATT	0.398													T	120182454	G	T	120182454	3	4	84	1	0	0	0	0	1	0	0	0	6477	1377	48	5	918	5	GLUD2	23	120182454	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	12204651	120182454	35088106	1536	57079											
STAG2	10735	broad.mit.edu	37	chrX	123164875	123164875	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaaatggaggaggaaaacCtccttctggtccaaaccgaa	11	9	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:123164875C>A	uc004etz.3	+	4	527	c.188C>A	c.(187-189)CCT>CAT	p.P63H	STAG2_uc004eua.2_Missense_Mutation_p.P63H|STAG2_uc004eub.2_Missense_Mutation_p.P63H|STAG2_uc004euc.2_Missense_Mutation_p.P63H|STAG2_uc004eud.2_Missense_Mutation_p.P63H|STAG2_uc004eue.2_Missense_Mutation_p.P63H	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	63					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						GGAGGAAAACCTCCTTCTGGT	0.418													A	123164875	C	A	123164875	3	1	84	1	0	0	0	0	1	0	0	0	15242	681	24	5	198	5	STAG2	23	123164875	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2982421	123164875	32105685	1537	57080											
STAG2	10735	broad.mit.edu	37	chrX	123185062	123185062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggaactttttaccagtcGgttcaaggttagtattactt	8	7	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:123185062G>A	uc004etz.3	+	11	1448	c.1109G>A	c.(1108-1110)CGG>CAG	p.R370Q	STAG2_uc004eua.2_Missense_Mutation_p.R370Q|STAG2_uc004eub.2_Missense_Mutation_p.R370Q|STAG2_uc004euc.2_Missense_Mutation_p.R370Q|STAG2_uc004eud.2_Missense_Mutation_p.R370Q|STAG2_uc004eue.2_Missense_Mutation_p.R370Q	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	370	SCD.				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						TTTACCAGTCGGTTCAAGGTT	0.294													A	123185062	G	A	123185062	3	1	84	1	0	0	0	0	1	0	0	0	15242	1116	39	1	1147	1	STAG2	23	123185062	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	20187	123185062	32085498	1538	57081											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686323	125686323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgcccagctccagttggCgctccgtcagcagctcgggc	13	17	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:125686323C>T	uc004eul.2	-	1	520	c.269G>A	c.(268-270)CGC>CAC	p.R90H		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	90										skin(3)|ovary(1)	4						CTCCAGTTGGCGCTCCGTCAG	0.662													T	125686323	C	T	125686323	3	4	84	1	0	0	0	0	1	0	0	0	4264	768	27	1	1126	1	DCAF12L1	23	125686323	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	2501261	125686323	29584237	1539	57082											
OCRL	4952	broad.mit.edu	37	chrX	128723914	128723914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattctctgaatacaatagCgtcaatgccaacatgatcgg	7	9	2	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:128723914C>T	uc004euq.2	+	23	2727	c.2562C>T	c.(2560-2562)AGC>AGT	p.S854S	OCRL_uc004eur.2_Silent_p.S846S|OCRL_uc010nrb.2_Intron	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	854	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			lung(2)|ovary(1)|kidney(1)	4						AATACAATAGCGTCAATGCCA	0.408													T	128723914	C	T	128723914	2	4	84	1	0	0	0	0	0	0	0	1	10823	767	27	1		1	OCRL	23	128723914	Silent	SNP	C	TCGA-BR-8372-01A-11D-2340-08	3037591	128723914	26546646	1540	57083											
BCORL1	63035	broad.mit.edu	37	chrX	129185910	129185910	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaaggagacgatccgaTggaggaggatgatttcatgt	14	5	2	3			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:129185910T>C	uc004evb.1	+	12	4886	c.4772T>C	c.(4771-4773)ATG>ACG	p.M1591T	BCORL1_uc004evc.1_Missense_Mutation_p.M427T	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1591					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						GACGATCCGATGGAGGAGGAT	0.507													C	129185910	T	C	129185910	3	2	84	1	0	0	0	0	1	0	0	0	1387	1464	51	3	5040	3	BCORL1	23	129185910	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	461996	129185910	26084650	1541	57084											
ZNF449	203523	broad.mit.edu	37	chrX	134494268	134494269	+	Frame_Shift_Ins	INS	-	-	C													ttagaaaatcaatgggaaacINSccccccagaggatttacaga							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:134494267_134494268A>AC	uc004eys.3	+	4	988_989	c.823_824A>AC	c.(823-825)accfs	p.T275fs	ZNF449_uc004eyt.3_Frame_Shift_Ins_p.T155fs|ZNF449_uc004eyu.3_Frame_Shift_Ins_p.T81fs	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	Homo sapiens zinc finger protein 449 (ZNF449), mRNA.	275					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCAATGGGAAACCCCCCCAGAG	0.436													C	134494269	-	C	134494268	7	5	84	1	0	1	1	0	0	0	0	0	17917	507	18	0	838	0	ZNF449	23	134494268	Frame_Shift_Ins	INS	-	TCGA-BR-8372-01A-11D-2340-08	5308358	134494268	20776292	1542	57085											
CNGA2	1260	broad.mit.edu	37	chrX	150908125	150908125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcattcctcgagcgttttCgtgggcctgaactccagact	9	13	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:150908125C>T	uc004fey.1	+	4	519	c.295C>T	c.(295-297)CGT>TGT	p.R99C		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	99	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CGAGCGTTTTCGTGGGCCTGA	0.552													T	150908125	C	T	150908125	3	4	84	1	0	0	0	0	1	0	0	0	3597	884	31	1	305	1	CNGA2	23	150908125	Missense_Mutation	SNP	C	TCGA-BR-8372-01A-11D-2340-08	16413857	150908125	4362435	1543	57086											
PLXNB3	5365	broad.mit.edu	37	chrX	153043732	153043732	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcaggattccccagtgaacaAactgctctacgcccgggaga	11	13	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:153043732A>T	uc004fii.2	+	33	5600	c.5426A>T	c.(5425-5427)AAA>ATA	p.K1809I	PLXNB3_uc010nuk.2_Missense_Mutation_p.K1832I|PLXNB3_uc011mzd.1_Missense_Mutation_p.K1448I|SRPK3_uc004fik.2_5'UTR|SRPK3_uc010nul.2_5'Flank|SRPK3_uc004fin.2_5'Flank|SRPK3_uc004fil.2_5'Flank|SRPK3_uc004fim.2_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1809	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTGAACAAACTGCTCTAC	0.652													T	153043732	A	T	153043732	3	4	84	1	0	0	0	0	1	0	0	0	12125	14	1	5	5670	5	PLXNB3	23	153043732	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	2135607	153043732	2226828	1544	57087											
PDZD4	57595	broad.mit.edu	37	chrX	153070220	153070220	+	Frame_Shift_Del	DEL	C	C	-													ggtggagctcgggggttcgtCccccagcaggtcgtgctcag							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:153070220delC	uc004fiz.1	-	8	1148	c.898delG	c.(898-900)GACfs	p.D300fs	PDZD4_uc004fiy.1_Frame_Shift_Del_p.D225fs|PDZD4_uc004fix.2_Frame_Shift_Del_p.D204fs|PDZD4_uc004fja.1_Frame_Shift_Del_p.D306fs|PDZD4_uc011mze.1_Frame_Shift_Del_p.D191fs	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	300						cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGGTTCGTCCCCCAGCAGG	0.667													-	153070220	C	-	153070220	7	5	84	1	0	1	0	1	0	0	0	0	11703	855	30	0	1415	0	PDZD4	23	153070220	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	26488	153070220	2200340	1545	57088											
AVPR2	554	broad.mit.edu	37	chrX	153172147	153172147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatgagtcctgcaccaccGccagctcctccctggccaag	9	17	0	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:153172147G>A	uc004fjh.3	+	3	1152	c.1081G>A	c.(1081-1083)GCC>ACC	p.A361T	AVPR2_uc004fjg.3_Missense_Mutation_p.A150T|AVPR2_uc004fji.2_3'UTR	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	361	Cytoplasmic (Potential).				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTGCACCACCGCCAGCTCCTC	0.627													A	153172147	G	A	153172147	3	1	84	1	0	0	0	0	1	0	0	0	1233	1087	38	1	1111	1	AVPR2	23	153172147	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	101927	153172147	2098413	1546	57089											
RPL10	6134	broad.mit.edu	37	chrX	153631751	153631751	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagggaccgagggctgccAtccactcctggaccttctcc	10	18	1	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:153631751A>G	uc004fkr.1	+	3	450	c.415A>G	c.(415-417)ATC>GTC	p.I139V	RPL10_uc004fkq.1_RNA|DNASE1L1_uc004fks.1_Intron|DNASE1L1_uc004fkt.1_Intron|DNASE1L1_uc004fku.1_Intron|DNASE1L1_uc004fkv.1_Intron|DNASE1L1_uc004fkw.1_Intron	NM_006013	NP_006004	P27635	RL10_HUMAN	ribosomal protein L10	Error:Variant_position_missing_in_P27635_after_alignment					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAGGGCTGCCATCCACTCCTG	0.642													G	153631751	A	G	153631751	3	3	84	1	0	0	0	0	1	0	0	0	13554	232	8	3		3	RPL10	23	153631751	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08	459604	153631751	1638809	1547	57090											
ATP6AP1	537	broad.mit.edu	37	chrX	153663742	153663742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccaggtcacagggcccaGcatctactccttccactgcg	8	17	2	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:153663742G>A	uc004flf.1	+	9	1155	c.1094G>A	c.(1093-1095)AGC>AAC	p.S365N	ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Missense_Mutation_p.S325N|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.3_5'Flank	NM_001183	NP_001174	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory	365					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(3)|breast(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACAGGGCCCAGCATCTACTCC	0.597													A	153663742	G	A	153663742	3	1	84	1	0	0	0	0	1	0	0	0	1165	971	34	2	1128	2	ATP6AP1	23	153663742	Missense_Mutation	SNP	G	TCGA-BR-8372-01A-11D-2340-08	31991	153663742	1606818	1548	57091											
GDI1	2664	broad.mit.edu	37	chrX	153670511	153670511	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgtggcggcccagggcaagTacatagctattgccagcact	12	12	0	0			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:153670511T>C	uc004fli.3	+	9	1387	c.1045T>C	c.(1045-1047)TAC>CAC	p.Y349H	GDI1_uc004flj.2_Missense_Mutation_p.Y14H|FAM50A_uc004fll.3_5'Flank	NM_001493	NP_001484	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	349					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding				0	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGGGCAAGTACATAGCTAT	0.587													C	153670511	T	C	153670511	3	2	84	1	0	0	0	0	1	0	0	0	6320	1638	57	3	1079	3	GDI1	23	153670511	Missense_Mutation	SNP	T	TCGA-BR-8372-01A-11D-2340-08	6769	153670511	1600049	1549	57092											
USP9Y	8287	broad.mit.edu	37	chrY	14898560	14898560	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttacctcttgtactgagtAtgctaataagaaataacttc	6	8	1	2			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrY:14898560A>G	uc004fst.1	+	24	4333	c.3388A>G	c.(3388-3390)ATG>GTG	p.M1130V	USP9Y_uc010nwu.1_RNA	NM_004654	NP_004645	O00507	USP9Y_HUMAN	ubiquitin specific protease 9, Y-linked	1130					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						TGTACTGAGTATGCTAATAAG	0.393													G	14898560	A	G	14898560	3	3	84	1	0	0	0	0	1	0	0	0	17088	449	16	3	3474	3	USP9Y	24	14898560	Missense_Mutation	SNP	A	TCGA-BR-8372-01A-11D-2340-08		14898560	44475006	1550	57093											
NLGN4Y	22829	broad.mit.edu	37	chrY	16942150	16942150	+	Frame_Shift_Del	DEL	C	C	-													tactgaccatcagtgggtggCccccgccgtggccaccgccg							TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrY:16942150delC	uc004ftg.2	+	5	1604	c.1352delC	c.(1351-1353)GCCfs	p.A451fs	NLGN4Y_uc004fte.2_Frame_Shift_Del_p.A283fs|NLGN4Y_uc011nas.1_Frame_Shift_Del_p.A471fs|NLGN4Y_uc004ftf.2_Frame_Shift_Del_p.A144fs|NLGN4Y_uc004fth.2_Frame_Shift_Del_p.A451fs	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked isoform 1	451	Extracellular (Potential).				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity				0						CAGTGGGTGGCCCCCGCCGTG	0.587													-	16942150	C	-	16942150	7	5	84	1	0	1	0	1	0	0	0	0	10465	739	26	0	1520	0	NLGN4Y	24	16942150	Frame_Shift_Del	DEL	C	TCGA-BR-8372-01A-11D-2340-08	2043590	16942150	42431416	1551	57094											
TAS1R1	80835	broad.mit.edu	37	chr1	6631130	6631130	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtatgccacgctgagagTgctctccctgccagggcaac	12	13	1	1			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	0.562													C	6631130	T	C	6631130	3	2	85	1	0	0	0	0	1	0	0	0	15559	1696	59	3	359	3	TAS1R1	1	6631130	Missense_Mutation	SNP	T	TCGA-BR-8373-01A-11D-2340-08		6631130	242619491	1	57095											
OPRD1	4985	broad.mit.edu	37	chr1	29185501	29185501	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacggccaccaacatctacaTcttcaacctggccttagccg	7	16	3	0			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	0.408													C	29185501	T	C	29185501	3	2	85	1	0	0	0	0	1	0	0	0	10884	1435	50	3	269	3	OPRD1	1	29185501	Missense_Mutation	SNP	T	TCGA-BR-8373-01A-11D-2340-08	22554371	29185501	220065120	2	57096											
EIF2C4	192670	broad.mit.edu	37	chr1	36297027	36297028	+	Splice_Site	INS	-	-	T													aaagacattctctcctatagINSttttcctttgcagctagaaa							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													T	36297028	-	T	36297027	8	5	85	1	0	1	1	0	0	0	1	0	5008	1043	36	0	878	0	EIF2C4	1	36297027	Splice_Site	INS	-	TCGA-BR-8373-01A-11D-2340-08	7111526	36297027	212953594	3	57097	252	2									
EIF2C4	192670	broad.mit.edu	37	chr1	36297028	36297029	+	Splice_Site	INS	-	-	T													aagacattctctcctatagtINStttcctttgcagctagaaaa							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													T	36297029	-	T	36297028	8	5	85	1	0	1	1	0	0	0	1	0	5008	1739	60	0	879	0	EIF2C4	1	36297028	Splice_Site	INS	-	TCGA-BR-8373-01A-11D-2340-08	1	36297028	212953593	4	57098	252	2									
EIF2C3	192669	broad.mit.edu	37	chr1	36520681	36520681	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttctatacctgcaccAgcgtattatgctcacctggt	7	12	3	0			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	0.433													C	36520681	A	C	36520681	2	2	85	1	0	0	0	0	0	0	0	1	5007	175	7	5		5	EIF2C3	1	36520681	Silent	SNP	A	TCGA-BR-8373-01A-11D-2340-08	223653	36520681	212729940	5	57099											
DMRTB1	63948	broad.mit.edu	37	chr1	53925618	53925618	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggacccccttttggggcGgaggccgcaggcagtggcta	18	12	0	0			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	0.716													A	53925618	G	A	53925618	2	1	85	1	0	0	0	0	0	0	0	1	4590	1103	39	1		1	DMRTB1	1	53925618	Silent	SNP	G	TCGA-BR-8373-01A-11D-2340-08	17404937	53925618	195325003	6	57100											
SYCP1	6847	broad.mit.edu	37	chr1	115428813	115428813	+	Frame_Shift_Del	DEL	A	A	-													aatttgtcagctaactgaagAaaaagaaactcaaatggaag							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													-	115428813	A	-	115428813	7	5	85	1	0	1	0	1	0	0	0	0	15428	246	9	0	1123	0	SYCP1	1	115428813	Frame_Shift_Del	DEL	A	TCGA-BR-8373-01A-11D-2340-08	61503195	115428813	133821808	7	57101											
DCST2	127579	broad.mit.edu	37	chr1	155002981	155002981	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcctctcggacacggtgcaGcttcatgctgacagcctcgt	12	14	2	1			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	0.622													T	155002981	G	T	155002981	3	4	85	1	0	0	0	0	1	0	0	0	4303	962	34	5	1415	5	DCST2	1	155002981	Missense_Mutation	SNP	G	TCGA-BR-8373-01A-11D-2340-08	39574168	155002981	94247640	8	57102											
WDR26	80232	broad.mit.edu	37	chr1	224606064	224606064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtagttccaccgcctgcCgcaggagagtctgtaaacgc	11	12	1	1			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	0.388													T	224606064	C	T	224606064	3	4	85	1	0	0	0	0	1	0	0	0	17280	652	23	1	1104	1	WDR26	1	224606064	Missense_Mutation	SNP	C	TCGA-BR-8373-01A-11D-2340-08	69603083	224606064	24644557	9	57103											
TAF5L	27097	broad.mit.edu	37	chr1	229730496	229730521	+	Frame_Shift_Del	DEL	AGTTTGAATTAGGGTGGAATTTGACA	AGTTTGAATTAGGGTGGAATTTGACA	-													ggttgagcccgtggccaagtAgtttgaattagggtggaatt							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													-	229730521	AGTTTGAATTAGGGTGGAATTTGACA	-	229730496	7	5	85	1	0	1	0	1	0	0	0	0	15526	420	15	0	455	0	TAF5L	1	229730496	Frame_Shift_Del	DEL	AGTTTGAATTAGGGTGGAATTTGACA	TCGA-BR-8373-01A-11D-2340-08	5124432	229730496	19520125	10	57104											
AGT	183	broad.mit.edu	37	chr1	230839016	230839016	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaggcttgttaagctgttgGgtagactctgtgggctctct	13	8	3	1			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	0.532													T	230839016	G	T	230839016	2	4	85	1	0	0	0	0	0	0	0	1	399	1219	43	5		5	AGT	1	230839016	Silent	SNP	G	TCGA-BR-8373-01A-11D-2340-08	1108520	230839016	18411605	11	57105											
KIF3C	3797	broad.mit.edu	37	chr2	26203307	26203307	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	caggtcctccagcatcttctCcttctcctccagcagcttct	5	18	4	0			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	0.622													G	26203307	C	G	26203307	3	3	85	1	0	0	0	0	1	0	0	0	8302	864	30	5	933	5	KIF3C	2	26203307	Missense_Mutation	SNP	C	TCGA-BR-8373-01A-11D-2340-08		26203307	216996066	12	57106											
HEATR5B	54497	broad.mit.edu	37	chr2	37296009	37296009	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagatcaagtacatgggacAggaacgtggcaaagctgcgc	13	10	1	1			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	0.473													C	37296009	A	C	37296009	3	2	85	1	0	0	0	0	1	0	0	0	7032	188	7	5	5339	5	HEATR5B	2	37296009	Missense_Mutation	SNP	A	TCGA-BR-8373-01A-11D-2340-08	11092702	37296009	205903364	13	57107											
TMEM178	130733	broad.mit.edu	37	chr2	39893487	39893487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctacttcctgggcatcgacCgggacatcgacaccctcatc	9	16	1	0			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	0.443													T	39893487	C	T	39893487	3	4	85	1	0	0	0	0	1	0	0	0	16092	643	23	1	375	1	TMEM178	2	39893487	Missense_Mutation	SNP	C	TCGA-BR-8373-01A-11D-2340-08	2597478	39893487	203305886	14	57108											
PNPT1	87178	broad.mit.edu	37	chr2	55872550	55872550	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttttgttcatgatctgtaAtatctccttttttgccacta	5	8	3	1			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	0.279													G	55872550	A	G	55872550	2	3	85	1	0	0	0	0	0	0	0	1	12173	98	4	3		3	PNPT1	2	55872550	Silent	SNP	A	TCGA-BR-8373-01A-11D-2340-08	15979063	55872550	187326823	15	57109											
RETSAT	54884	broad.mit.edu	37	chr2	85576544	85576544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtccagcaacacactctgCacagtggcctttgtgaggac	11	12	1	1			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	0.622													T	85576544	C	T	85576544	2	4	85	1	0	0	0	0	0	0	0	1	13238	697	25	2		2	RETSAT	2	85576544	Silent	SNP	C	TCGA-BR-8373-01A-11D-2340-08	29703994	85576544	157622829	16	57110											
SCN9A	6335	broad.mit.edu	37	chr2	167134663	167134663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtttaccagtctgaatgatCgcagaactgacaatccttcc	7	11	1	4			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	0.338													T	167134663	C	T	167134663	3	4	85	1	0	0	0	0	1	0	0	0	13925	884	31	1	3514	1	SCN9A	2	167134663	Missense_Mutation	SNP	C	TCGA-BR-8373-01A-11D-2340-08	81558119	167134663	76064710	17	57111											
ICA1L	130026	broad.mit.edu	37	chr2	203680659	203680659	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctacaaaatcatacggaTgaaagccaatacaggcttca	8	9	2	1			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	0.363													G	203680659	T	G	203680659	3	3	85	1	0	0	0	0	1	0	0	0	7478	1464	51	5	718	5	ICA1L	2	203680659	Missense_Mutation	SNP	T	TCGA-BR-8373-01A-11D-2340-08	36545996	203680659	39518714	18	57112											
KIF1A	547	broad.mit.edu	37	chr2	241686695	241686695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagattttagcagttccCgactggcggacgccagagcc	13	11	0	2			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	0.572													T	241686695	C	T	241686695	2	4	85	1	0	0	0	0	0	0	0	1	8283	639	23	1		1	KIF1A	2	241686695	Silent	SNP	C	TCGA-BR-8373-01A-11D-2340-08	38006036	241686695	1512678	19	57113											
FGD5	152273	broad.mit.edu	37	chr3	14861698	14861698	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcagcgaaaggtttagaaTcagagcaggcaccaaagctg	11	8	2	2			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	0.577													G	14861698	T	G	14861698	3	3	85	1	0	0	0	0	1	0	0	0	5836	1435	50	5	1122	5	FGD5	3	14861698	Missense_Mutation	SNP	T	TCGA-BR-8373-01A-11D-2340-08		14861698	183160732	20	57114											
CDC25A	993	broad.mit.edu	37	chr3	48224509	48224509	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcagagctggactacatccCaacagcttctgctatcaaag	7	12	3	1			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	0.388													G	48224509	C	G	48224509	3	3	85	1	0	0	0	0	1	0	0	0	3062	593	21	5	1279	5	CDC25A	3	48224509	Missense_Mutation	SNP	C	TCGA-BR-8373-01A-11D-2340-08	33362811	48224509	149797921	21	57115											
UBA7	7318	broad.mit.edu	37	chr3	49847484	49847484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggcatcctcagaagctGcagctgaggcaggggctctg	17	10	2	2			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	0.617													A	49847484	G	A	49847484	3	1	85	1	0	0	0	0	1	0	0	0	16830	1319	46	2	1316	2	UBA7	3	49847484	Missense_Mutation	SNP	G	TCGA-BR-8373-01A-11D-2340-08	1622975	49847484	148174946	22	57116											
IGSF11	152404	broad.mit.edu	37	chr3	118621614	118621614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatggtatgttggcattgCctgagtggaaagagaaagat	15	3	0	3			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	0.473													T	118621614	C	T	118621614	3	4	85	1	0	0	0	0	1	0	0	0	7598	739	26	2	250	2	IGSF11	3	118621614	Missense_Mutation	SNP	C	TCGA-BR-8373-01A-11D-2340-08	68774130	118621614	79400816	23	57117											
IFT122	55764	broad.mit.edu	37	chr3	129221675	129221675	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agacctacctgaagatgggtGacctcaagtccctggtgcag	12	11	1	4			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	0.637													A	129221675	G	A	129221675	3	1	85	1	0	0	0	0	1	0	0	0	7555	1290	45	4	2732	4	IFT122	3	129221675	Missense_Mutation	SNP	G	TCGA-BR-8373-01A-11D-2340-08	10600061	129221675	68800755	24	57118											
RTP1	132112	broad.mit.edu	37	chr3	186917605	186917605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcatccacgtggccagccGccaggacaaccggcggcacc	12	19	0	0			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	0.682													A	186917605	G	A	186917605	3	1	85	1	0	0	0	0	1	0	0	0	13733	1087	38	1	545	1	RTP1	3	186917605	Missense_Mutation	SNP	G	TCGA-BR-8373-01A-11D-2340-08	57695930	186917605	11104825	25	57119											
RGS12	6002	broad.mit.edu	37	chr4	3432142	3432142	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcttccaatagagttttttGagcttatttccaaagctcag	6	8	2	2			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	0.468													T	3432142	G	T	3432142	4	4	85	1	0	0	0	0	0	1	0	0	13295	1291	45	5	3694	5	RGS12	4	3432142	Nonsense_Mutation	SNP	G	TCGA-BR-8373-01A-11D-2340-08		3432142	187722134	26	57120											
ADH6	130	broad.mit.edu	37	chr4	100128702	100128703	+	In_Frame_Ins	INS	-	-	CCC													accccaacaaccacacagacINScccatagctctcattgcagg							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													CCC	100128703	-	CCC	100128702	7	5	85	1	0	1	1	0	0	0	0	0	312	507	18	0	278	0	ADH6	4	100128702	In_Frame_Ins	INS	-	TCGA-BR-8373-01A-11D-2340-08	96696560	100128702	91025574	27	57121											
ANK2	287	broad.mit.edu	37	chr4	114223992	114223992	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcttgatgtttctgatgaaGagggtaagacttctattcaa	9	5	4	5			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	0.363													T	114223992	G	T	114223992	4	4	85	1	0	0	0	0	0	1	0	0	621	943	33	5	2660	5	ANK2	4	114223992	Nonsense_Mutation	SNP	G	TCGA-BR-8373-01A-11D-2340-08	14095290	114223992	76930284	28	57122											
FABP2	2169	broad.mit.edu	37	chr4	120241826	120241826	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaaaaaaaaaattcttaccCtgagttcagttccgtctgct	5	9	3	1			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	0.313													A	120241826	C	A	120241826	3	1	85	1	0	0	0	0	1	0	0	0	5357	695	24	5	171	5	FABP2	4	120241826	Missense_Mutation	SNP	C	TCGA-BR-8373-01A-11D-2340-08	6017834	120241826	70912450	29	57123											
PCDH10	57575	broad.mit.edu	37	chr4	134073167	134073167	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagcatcgtgcgtggcaaCgaaatgaacctctttcgcat	9	11	1	1			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	0.692													T	134073167	C	T	134073167	2	4	85	1	0	0	0	0	0	0	0	1	11507	535	19	1		1	PCDH10	4	134073167	Silent	SNP	C	TCGA-BR-8373-01A-11D-2340-08	13831341	134073167	57081109	30	57124											
ADAM29	11086	broad.mit.edu	37	chr4	175897990	175897990	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgatggttctacttgtgcTtttgggctttgttgcaaaga	11	6	1	2			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	0.438													G	175897990	T	G	175897990	2	3	85	1	0	0	0	0	0	0	0	1	247	1596	56	5		5	ADAM29	4	175897990	Silent	SNP	T	TCGA-BR-8373-01A-11D-2340-08	41824823	175897990	15256286	31	57125											
ASB5	140458	broad.mit.edu	37	chr4	177146474	177146474	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgctgcttcatgtagtggtGatcgatctgcccaggaacct	11	10	2	1			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	0.338													A	177146474	G	A	177146474	3	1	85	1	0	0	0	0	1	0	0	0	1026	1294	45	4	798	4	ASB5	4	177146474	Missense_Mutation	SNP	G	TCGA-BR-8373-01A-11D-2340-08	1248484	177146474	14007802	32	57126											
ADAMTS16	170690	broad.mit.edu	37	chr5	5235251	5235251	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccgagcacaacagcagaCgattcagagggcggcactac	13	12	1	2			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	0.507													T	5235251	C	T	5235251	4	4	85	1	0	0	0	0	0	1	0	0	261	528	19	1	2025	1	ADAMTS16	5	5235251	Nonsense_Mutation	SNP	C	TCGA-BR-8373-01A-11D-2340-08		5235251	175680009	33	57127											
TAS2R1	50834	broad.mit.edu	37	chr5	9629277	9629277	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttactgtggaggaggaactTttttgcattttgtttcaatt	9	5	1	0			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	0.398													A	9629277	T	A	9629277	4	1	85	1	0	0	0	0	0	1	0	0	15562	1850	64	5	35	5	TAS2R1	5	9629277	Nonsense_Mutation	SNP	T	TCGA-BR-8373-01A-11D-2340-08	4394026	9629277	171285983	34	57128											
CTNND2	1501	broad.mit.edu	37	chr5	11346621	11346621	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtaggggtccgcgtaattGgaggctgggccggcggcata	19	9	0	0			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	0.652													A	11346621	G	A	11346621	2	1	85	1	0	0	0	0	0	0	0	1	4020	1335	47	4		4	CTNND2	5	11346621	Silent	SNP	G	TCGA-BR-8373-01A-11D-2340-08	1717344	11346621	169568639	35	57129											
DNAH5	1767	broad.mit.edu	37	chr5	13716678	13716678	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgaaatctggtccaaacAtattttcactgaaccaaacc	4	11	2	2			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	0.373									Kartagener_syndrome				G	13716678	A	G	13716678	3	3	85	1	0	0	0	0	1	0	0	0	4604	217	8	3	1071	3	DNAH5	5	13716678	Missense_Mutation	SNP	A	TCGA-BR-8373-01A-11D-2340-08	2370057	13716678	167198582	36	57130											
C5orf42	65250	broad.mit.edu	37	chr5	37169353	37169353	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagataatccccaagcctctCttggttgtggcaaaggcctg	10	12	1	1			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	0.443													A	37169353	C	A	37169353	3	1	85	1	0	0	0	0	1	0	0	0	2301	913	32	5	2896	5	C5orf42	5	37169353	Missense_Mutation	SNP	C	TCGA-BR-8373-01A-11D-2340-08	23452675	37169353	143745907	37	57131											
IQGAP2	10788	broad.mit.edu	37	chr5	75967731	75967731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatcatcgacgacaagtcGctgattatcaacacaaaccc	7	12	2	2	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	0.502													A	75967731	G	A	75967731	2	1	85	1	0	0	0	0	0	0	0	1	7815	1074	38	1		1	IQGAP2	5	75967731	Silent	SNP	G	TCGA-BR-8373-01A-11D-2340-08	38798378	75967731	104947529	38	57132											
ATP6AP1L	92270	broad.mit.edu	37	chr5	81613993	81613993	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccaacaatatgatctcatCgcctctcctgcccacttctc	4	17	3	1			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	0.557													T	81613993	C	T	81613993	2	4	85	1	0	0	0	0	0	0	0	1	1166	874	31	1		1	ATP6AP1L	5	81613993	Silent	SNP	C	TCGA-BR-8373-01A-11D-2340-08	5646262	81613993	99301267	39	57133											
PCDHB4	56131	broad.mit.edu	37	chr5	140502259	140502259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaggtctggcacggtcatgGttcgaatcctgatcatggac	12	10	3	1			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	0.547													A	140502259	G	A	140502259	3	1	85	1	0	0	0	0	1	0	0	0	11544	1261	44	4	681	4	PCDHB4	5	140502259	Missense_Mutation	SNP	G	TCGA-BR-8373-01A-11D-2340-08	58888266	140502259	40413001	40	57134											
PCDHGA4	56111	broad.mit.edu	37	chr5	140736094	140736094	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcatatttcactgcaagtgAtggacatcaatgacaaccca	6	11	3	2			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	0.463													G	140736094	A	G	140736094	3	3	85	1	0	0	0	0	1	0	0	0	11556	333	12	3	1329	3	PCDHGA4	5	140736094	Missense_Mutation	SNP	A	TCGA-BR-8373-01A-11D-2340-08	233835	140736094	40179166	41	57135											
BTNL3	10917	broad.mit.edu	37	chr5	180432479	180432479	+	Frame_Shift_Del	DEL	C	C	-													gtggtggcttctcagggtttCcaagcagggaaacattactg							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													-	180432479	C	-	180432479	7	5	85	1	0	1	0	1	0	0	0	0	1566	854	30	0	1038	0	BTNL3	5	180432479	Frame_Shift_Del	DEL	C	TCGA-BR-8373-01A-11D-2340-08	39696385	180432479	482781	42	57136											
SCGN	10590	broad.mit.edu	37	chr6	25670264	25670264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcttcaccacaaaaaggCcatttctgaggctaaactgg	7	11	3	1			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	0.313													T	25670264	C	T	25670264	3	4	85	1	0	0	0	0	1	0	0	0	13903	739	26	2	453	2	SCGN	6	25670264	Missense_Mutation	SNP	C	TCGA-BR-8373-01A-11D-2340-08		25670264	145444803	43	57137											
VPS52	6293	broad.mit.edu	37	chr6	33231791	33231791	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccgaccctcacctgcagCtgtcccagcaattgcatggt	9	15	1	0			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	0.567													T	33231791	C	T	33231791	2	4	85	1	0	0	0	0	0	0	0	1	17211	796	28	2		2	VPS52	6	33231791	Silent	SNP	C	TCGA-BR-8373-01A-11D-2340-08	7561527	33231791	137883276	44	57138											
DST	667	broad.mit.edu	37	chr6	56716385	56716385	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaagacatagagcagcgataGgacgcgttcccggaactcta	12	10	1	2			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	0.483											OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	56716385	G	C	56716385	2	2	85	1	0	0	0	0	0	0	0	1	4783	1015	35	5		5	DST	6	56716385	Silent	SNP	G	TCGA-BR-8373-01A-11D-2340-08	23484594	56716385	114398682	45	57139											
PHACTR2	9749	broad.mit.edu	37	chr6	144075049	144075049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaggcagaagataagaaaGgtaaaataaagacaaaccca	8	6	0	4			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	0.393													A	144075049	G	A	144075049	3	1	85	1	0	0	0	0	1	0	0	0	11810	1014	35	4	485	4	PHACTR2	6	144075049	Missense_Mutation	SNP	G	TCGA-BR-8373-01A-11D-2340-08	87358664	144075049	27040018	46	57140											
SYNE1	23345	broad.mit.edu	37	chr6	152725384	152725384	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttctagatttttagttaaTtctttcagatcattaacttt	4	5	4	2			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	0.328										HNSCC(10;0.0054)			C	152725384	T	C	152725384	2	2	85	1	0	0	0	0	0	0	0	1	15442	1490	52	3		3	SYNE1	6	152725384	Silent	SNP	T	TCGA-BR-8373-01A-11D-2340-08	8650335	152725384	18389683	47	57141											
TIAM2	26230	broad.mit.edu	37	chr6	155504497	155504497	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgattgcccggcctccggAcacaaaagcaaccctgtgta	9	14	1	1			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	0.547													G	155504497	A	G	155504497	3	3	85	1	0	0	0	0	1	0	0	0	15888	275	10	3	2969	3	TIAM2	6	155504497	Missense_Mutation	SNP	A	TCGA-BR-8373-01A-11D-2340-08	2779113	155504497	15610570	48	57142											
DGKB	1607	broad.mit.edu	37	chr7	14613993	14613993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcagattctcaccttcGtaacctagtgggaaaaaaaa	6	9	3	1			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	0.323													A	14613993	G	A	14613993	2	1	85	1	0	0	0	0	0	0	0	1	4466	1140	40	1		1	DGKB	7	14613993	Silent	SNP	G	TCGA-BR-8373-01A-11D-2340-08		14613993	144524670	49	57143											
LHFPL3	375612	broad.mit.edu	37	chr7	104377349	104377349	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggcagaggaactgaaggcaGaaaacaaaggtaagattgct	13	5	0	4			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	0.433													T	104377349	G	T	104377349	4	4	85	1	0	0	0	0	0	1	0	0	8766	943	33	5	679	5	LHFPL3	7	104377349	Nonsense_Mutation	SNP	G	TCGA-BR-8373-01A-11D-2340-08	89763356	104377349	54761314	50	57144											
OR2A25	392138	broad.mit.edu	37	chr7	143772005	143772005	+	Frame_Shift_Del	DEL	G	G	-													ctaaagatccagtcaggagaGgggtgccagaaagccttctc							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													-	143772005	G	-	143772005	7	5	85	1	0	1	0	1	0	0	0	0	10978	991	35	0	695	0	OR2A25	7	143772005	Frame_Shift_Del	DEL	G	TCGA-BR-8373-01A-11D-2340-08	39394656	143772005	15366658	51	57145											
MSR1	4481	broad.mit.edu	37	chr8	16021687	16021687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttatttcctgttccaaaTgcacttgttcttctttcata	3	10	3	0			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	0.353													C	16021687	T	C	16021687	3	2	85	1	0	0	0	0	1	0	0	0	9886	1464	51	3	723	3	MSR1	8	16021687	Missense_Mutation	SNP	T	TCGA-BR-8373-01A-11D-2340-08		16021687	130342335	52	57146											
ADAM7	8756	broad.mit.edu	37	chr8	24358343	24358343	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcttgtcctggttattgtCggtatcggagttcttatact	11	7	1	0	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	0.378													T	24358343	C	T	24358343	2	4	85	1	0	0	0	0	0	0	0	1	251	871	31	1		1	ADAM7	8	24358343	Silent	SNP	C	TCGA-BR-8373-01A-11D-2340-08	8336656	24358343	122005679	53	57147											
RUNX1T1	862	broad.mit.edu	37	chr8	92983012	92983012	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcgtgggctttccgctcCgcctcagacacggccttctg	11	15	2	1	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	0.617													T	92983012	C	T	92983012	2	4	85	1	0	0	0	0	0	0	0	1	13747	639	23	1		1	RUNX1T1	8	92983012	Silent	SNP	C	TCGA-BR-8373-01A-11D-2340-08	68624669	92983012	53381010	54	57148											
SPAG1	6674	broad.mit.edu	37	chr8	101237549	101237549	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	caggagactccagcagccatCgccagcagggcatcacaggt	12	14	1	1			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	0.468													G	101237549	C	G	101237549	3	3	85	1	0	0	0	0	1	0	0	0	14975	884	31	5	1887	5	SPAG1	8	101237549	Missense_Mutation	SNP	C	TCGA-BR-8373-01A-11D-2340-08	8254537	101237549	45126473	55	57149											
EIF3H	8667	broad.mit.edu	37	chr8	117658748	117658748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcctggcaggcggctgtGgtggtttgaagagtttggac	16	8	0	2			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	0.547													A	117658748	G	A	117658748	3	1	85	1	0	0	0	0	1	0	0	0	5018	1348	47	4	143	4	EIF3H	8	117658748	Missense_Mutation	SNP	G	TCGA-BR-8373-01A-11D-2340-08	16421199	117658748	28705274	56	57150											
TJP2	9414	broad.mit.edu	37	chr9	71840295	71840295	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggcaactaaagatggcaAccttcacgaaggagacataa	9	9	2	2			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	0.498													G	71840295	A	G	71840295	3	3	85	1	0	0	0	0	1	0	0	0	15927	43	2	3	1207	3	TJP2	9	71840295	Missense_Mutation	SNP	A	TCGA-BR-8373-01A-11D-2340-08		71840295	69373136	57	57151											
C9orf135	138255	broad.mit.edu	37	chr9	72521031	72521031	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactctatcccttgactagTgggcctattgtgccaattta	7	10	1	1			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	0.333													C	72521031	T	C	72521031	2	2	85	1	0	0	0	0	0	0	0	1	2458	1693	59	3		3	C9orf135	9	72521031	Silent	SNP	T	TCGA-BR-8373-01A-11D-2340-08	680736	72521031	68692400	58	57152											
FBP1	2203	broad.mit.edu	37	chr9	97367856	97367856	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccccataaggagctgaattAtcctgcaagttaagaccagc	9	11	0	2			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	0.403													C	97367856	A	C	97367856	3	2	85	1	0	0	0	0	1	0	0	0	5705	446	16	5	316	5	FBP1	9	97367856	Missense_Mutation	SNP	A	TCGA-BR-8373-01A-11D-2340-08	24846825	97367856	43845575	59	57153											
SUSD1	64420	broad.mit.edu	37	chr9	114840902	114840902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgtagttggtacccggacGtaggtccaagcacacctcgg	12	11	0	0			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	0.498													A	114840902	G	A	114840902	3	1	85	1	0	0	0	0	1	0	0	0	15404	1145	40	1	598	1	SUSD1	9	114840902	Missense_Mutation	SNP	G	TCGA-BR-8373-01A-11D-2340-08	17473046	114840902	26372529	60	57154											
SH2D3C	10044	broad.mit.edu	37	chr9	130504085	130504085	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgggccatgtccagggcAcccatgaccgccgcgaagct	12	16	0	1			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	0.632													G	130504085	A	G	130504085	2	3	85	1	0	0	0	0	0	0	0	1	14234	146	6	3		3	SH2D3C	9	130504085	Silent	SNP	A	TCGA-BR-8373-01A-11D-2340-08	15663183	130504085	10709346	61	57155											
GBGT1	26301	broad.mit.edu	37	chr9	136029548	136029548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccagcgggaccccgggaaCggctgcagggttgtcagtga	16	12	1	1			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	0.602													T	136029548	C	T	136029548	3	4	85	1	0	0	0	0	1	0	0	0	6272	536	19	1	587	1	GBGT1	9	136029548	Missense_Mutation	SNP	C	TCGA-BR-8373-01A-11D-2340-08	5525463	136029548	5183883	62	57156											
ADAMTS13	11093	broad.mit.edu	37	chr9	136320437	136320437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtggggatggcatccagCgccggcgtgacacctgcctc	14	15	0	1			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	0.577													T	136320437	C	T	136320437	3	4	85	1	0	0	0	0	1	0	0	0	258	768	27	1	3378	1	ADAMTS13	9	136320437	Missense_Mutation	SNP	C	TCGA-BR-8373-01A-11D-2340-08	290889	136320437	4892994	63	57157											
MYO3A	53904	broad.mit.edu	37	chr10	26457674	26457674	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attatcacgtggagcagttaAatctaatgcgaaaggaagct	10	6	2	0			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	0.353													C	26457674	A	C	26457674	3	2	85	1	0	0	0	0	1	0	0	0	10076	14	1	5	3247	5	MYO3A	10	26457674	Missense_Mutation	SNP	A	TCGA-BR-8373-01A-11D-2340-08		26457674	109077073	64	57158											
SLC18A3	6572	broad.mit.edu	37	chr10	50819913	50819913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctcgtgcatcgtgcccgCctgccgctccttcgcgccgc	11	20	0	0			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	0.672													T	50819913	C	T	50819913	3	4	85	1	0	0	0	0	1	0	0	0	14427	739	26	2	1129	2	SLC18A3	10	50819913	Missense_Mutation	SNP	C	TCGA-BR-8373-01A-11D-2340-08	24362239	50819913	84714834	65	57159											
ZWINT	11130	broad.mit.edu	37	chr10	58119237	58119237	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcctagggggacgaacctacCtgttgtagctgccactggtt	12	11	0	0			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	0.488													G	58119237	C	G	58119237	3	3	85	1	0	0	0	0	1	0	0	0	18246	695	24	5	369	5	ZWINT	10	58119237	Missense_Mutation	SNP	C	TCGA-BR-8373-01A-11D-2340-08	7299324	58119237	77415510	66	57160			1	25		2	2	25	N	G_C	8.37263e-05
ZWINT	11130	broad.mit.edu	37	chr10	58119261	58119261	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgtagctgccactggttctgGactgctctgcgtttctccat	10	12	3	0			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	0.478													C	58119261	G	C	58119261	2	2	85	1	0	0	0	0	0	0	0	1	18246	1161	41	5		5	ZWINT	10	58119261	Silent	SNP	G	TCGA-BR-8373-01A-11D-2340-08	24	58119261	77415486	67	57161			1	25		2	2	25	N	G_C	8.37263e-05
KCNK18	338567	broad.mit.edu	37	chr10	118969314	118969314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttggcacatgtccttcacGcccaagctgcagcatggagc	10	14	1	0			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	0.532													A	118969314	G	A	118969314	3	1	85	1	0	0	0	0	1	0	0	0	8065	1087	38	1	669	1	KCNK18	10	118969314	Missense_Mutation	SNP	G	TCGA-BR-8373-01A-11D-2340-08	60850053	118969314	16565433	68	57162											
EIF3A	8661	broad.mit.edu	37	chr10	120802173	120802173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccggggaacccgatcatcGtctggtctaagagagggctc	14	12	3	1	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	0.587													A	120802173	G	A	120802173	2	1	85	1	0	0	0	0	0	0	0	1	5012	1136	40	1		1	EIF3A	10	120802173	Silent	SNP	G	TCGA-BR-8373-01A-11D-2340-08	1832859	120802173	14732574	69	57163											
OR56B1	387748	broad.mit.edu	37	chr11	5758675	5758675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaaagaacttagggcagCcttccaaaaggtgctgtttg	11	9	0	1			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	0.423													T	5758675	C	T	5758675	3	4	85	1	0	0	0	0	1	0	0	0	11137	739	26	2	931	2	OR56B1	11	5758675	Missense_Mutation	SNP	C	TCGA-BR-8373-01A-11D-2340-08		5758675	129247841	70	57164											
MRGPRX4	117196	broad.mit.edu	37	chr11	18194815	18194815	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgagcatggatccaacCgtcccagtcttcggtacaaa	8	12	2	1			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	0.438													T	18194815	C	T	18194815	2	4	85	1	0	0	0	0	0	0	0	1	9769	639	23	1		1	MRGPRX4	11	18194815	Silent	SNP	C	TCGA-BR-8373-01A-11D-2340-08	12436140	18194815	116811701	71	57165											
OR8H3	390152	broad.mit.edu	37	chr11	55890770	55890770	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattagagtcatgcagagaAgacaggactccaggtagtta	11	7	2	3			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	0.338													C	55890770	A	C	55890770	2	2	85	1	0	0	0	0	0	0	0	1	11239	64	3	5		5	OR8H3	11	55890770	Silent	SNP	A	TCGA-BR-8373-01A-11D-2340-08	37695955	55890770	79115746	72	57166											
OR8J1	219477	broad.mit.edu	37	chr11	56128326	56128326	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaaacagttgtctttataTctgcagcaacaaatgtggtt	8	7	2	1			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	0.299													C	56128326	T	C	56128326	3	2	85	1	0	0	0	0	1	0	0	0	11241	1435	50	3	606	3	OR8J1	11	56128326	Missense_Mutation	SNP	T	TCGA-BR-8373-01A-11D-2340-08	237556	56128326	78878190	73	57167											
C11orf10	746	broad.mit.edu	37	chr11	61557967	61557967	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctcagtgaaaggatacacGaagaaccaggcggtgaagaa	13	7	1	4			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	0.542													A	61557967	G	A	61557967	2	1	85	1	0	0	0	0	0	0	0	1	1630	1049	37	1		1	C11orf10	11	61557967	Silent	SNP	G	TCGA-BR-8373-01A-11D-2340-08	5429641	61557967	73448549	74	57168											
SLC22A10	387775	broad.mit.edu	37	chr11	63066406	63066406	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tatcaggtggctggtggaatCtgctcggtggttgataatca	14	6	3	1			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	0.398													G	63066406	C	G	63066406	3	3	85	1	0	0	0	0	1	0	0	0	14441	913	32	5	863	5	SLC22A10	11	63066406	Missense_Mutation	SNP	C	TCGA-BR-8373-01A-11D-2340-08	1508439	63066406	71940110	75	57169											
CABP4	57010	broad.mit.edu	37	chr11	67225880	67225880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgaattacggtggcggaGctgcgggaggcggtaccggc	20	9	0	0			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	0.647													A	67225880	G	A	67225880	2	1	85	1	0	0	0	0	0	0	0	1	2533	962	34	2		2	CABP4	11	67225880	Silent	SNP	G	TCGA-BR-8373-01A-11D-2340-08	4159474	67225880	67780636	76	57170											
SLCO2B1	11309	broad.mit.edu	37	chr11	74880733	74880748	+	Frame_Shift_Del	DEL	GATGGGGCCAGGCCTG	GATGGGGCCAGGCCTG	-													atcctgtttgcagtgaccatGatggggccaggcctggcctt					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													-	74880748	GATGGGGCCAGGCCTG	-	74880733	7	5	85	1	0	1	0	1	0	0	0	0	14727	1290	45	0	727	0	SLCO2B1	11	74880733	Frame_Shift_Del	DEL	GATGGGGCCAGGCCTG	TCGA-BR-8373-01A-11D-2340-08	7654853	74880733	60125783	77	57171											
AQP11	282679	broad.mit.edu	37	chr11	77314623	77314623	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtctaacaggagctgtAtttaatccagctttggcact	10	8	1	0			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	0.363													C	77314623	A	C	77314623	2	2	85	1	0	0	0	0	0	0	0	1	823	436	16	5		5	AQP11	11	77314623	Silent	SNP	A	TCGA-BR-8373-01A-11D-2340-08	2433890	77314623	57691893	78	57172											
GPRC5A	9052	broad.mit.edu	37	chr12	13061831	13061831	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggcccacatctacctcacGatgctcctctccattgccat	7	17	3	0			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	0.577													A	13061831	G	A	13061831	2	1	85	1	0	0	0	0	0	0	0	1	6724	1045	37	1		1	GPRC5A	12	13061831	Silent	SNP	G	TCGA-BR-8373-01A-11D-2340-08		13061831	120790064	79	57173											
CAPRIN2	65981	broad.mit.edu	37	chr12	30872159	30872159	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgcctgggggaattgctgCctggggaggagaaatgcagc	17	8	0	1			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	0.498													A	30872159	C	A	30872159	3	1	85	1	0	0	0	0	1	0	0	0	2636	753	26	5	1258	5	CAPRIN2	12	30872159	Missense_Mutation	SNP	C	TCGA-BR-8373-01A-11D-2340-08	17810328	30872159	102979736	80	57174											
SHMT2	6472	broad.mit.edu	37	chr12	57628067	57628067	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttaaggactcagaaacaagtCagcgtctggccaacctcagg	10	11	4	1			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	0.542													T	57628067	C	T	57628067	4	4	85	1	0	0	0	0	0	1	0	0	14286	827	29	4	1484	4	SHMT2	12	57628067	Nonsense_Mutation	SNP	C	TCGA-BR-8373-01A-11D-2340-08	26755908	57628067	76223828	81	57175											
UTP20	27340	broad.mit.edu	37	chr12	101759386	101759386	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atcagtgaaaatcttcccctGttaacagagaaagaaaagta	7	7	2	3			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	0.353													C	101759386	G	C	101759386	2	2	85	1	0	0	0	0	0	0	0	1	17096	1364	48	5		5	UTP20	12	101759386	Silent	SNP	G	TCGA-BR-8373-01A-11D-2340-08	44131319	101759386	32092509	82	57176											
ALOX5AP	241	broad.mit.edu	37	chr13	31338224	31338224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctccaccaccatctcccCtctacttctcattccctaac	1	20	4	0			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	0.413													T	31338224	C	T	31338224	3	4	85	1	0	0	0	0	1	0	0	0	541	681	24	4	485	4	ALOX5AP	13	31338224	Missense_Mutation	SNP	C	TCGA-BR-8373-01A-11D-2340-08		31338224	83831654	83	57177											
HSPA2	3306	broad.mit.edu	37	chr14	65009426	65009426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccaaggtggtcctggcgGcggcagcggcggcggcggtt	19	11	0	0			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	0.433													A	65009426	G	A	65009426	3	1	85	1	0	0	0	0	1	0	0	0	7411	1203	42	2	1861	2	HSPA2	14	65009426	Missense_Mutation	SNP	G	TCGA-BR-8373-01A-11D-2340-08		65009426	42340114	84	57178											
HEATR4	399671	broad.mit.edu	37	chr14	73989212	73989212	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcttgctctggatccatcgGgctgtgcgctcgttcagctt	12	13	2	0			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	0.602													T	73989212	G	T	73989212	2	4	85	1	0	0	0	0	0	0	0	1	7030	1219	43	5		5	HEATR4	14	73989212	Silent	SNP	G	TCGA-BR-8373-01A-11D-2340-08	8979786	73989212	33360328	85	57179											
AHNAK2	113146	broad.mit.edu	37	chr14	105418917	105418917	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctgggcagagacacctcGccatcgggggctgtcacttc	13	13	1	1			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	0.632													A	105418917	G	A	105418917	2	1	85	1	0	0	0	0	0	0	0	1	415	1074	38	1		1	AHNAK2	14	105418917	Silent	SNP	G	TCGA-BR-8373-01A-11D-2340-08	31429705	105418917	1930623	86	57180											
PIAS1	8554	broad.mit.edu	37	chr15	68445992	68445992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttcttcttcagaggttacGagcaaagggaataaggaatc	11	6	3	1			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	0.328													A	68445992	G	A	68445992	3	1	85	1	0	0	0	0	1	0	0	0	11875	1058	37	1	919	1	PIAS1	15	68445992	Missense_Mutation	SNP	G	TCGA-BR-8373-01A-11D-2340-08		68445992	34085400	87	57181											
PTX4	390667	broad.mit.edu	37	chr16	1538406	1538406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaccccgcgtgggagtccGggaggccgttcacaccgact	15	14	1	0			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	0.657													A	1538406	G	A	1538406	2	1	85	1	0	0	0	0	0	0	0	1	12823	1103	39	1		1	PTX4	16	1538406	Silent	SNP	G	TCGA-BR-8373-01A-11D-2340-08		1538406	88816347	88	57182											
NAT15	79903	broad.mit.edu	37	chr16	3534809	3534809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcagcttcctgccatggtCgggcatctcttccaagagtg	11	13	1	1			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	0.672													T	3534809	C	T	3534809	3	4	85	1	0	0	0	0	1	0	0	0	10176	893	31	1	701	1	NAT15	16	3534809	Missense_Mutation	SNP	C	TCGA-BR-8373-01A-11D-2340-08	1996403	3534809	86819944	89	57183											
ABAT	18	broad.mit.edu	37	chr16	8858686	8858686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccatcttcatgtggtaccGggtgaggtttggggcacaca	14	9	2	1			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	0.522													A	8858686	G	A	8858686	3	1	85	1	0	0	0	0	1	0	0	0	27	1130	39	1	565	1	ABAT	16	8858686	Missense_Mutation	SNP	G	TCGA-BR-8373-01A-11D-2340-08	5323877	8858686	81496067	90	57184											
KIAA0182	23199	broad.mit.edu	37	chr16	85695249	85695249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcctggctcgccctaccGgcccccagtgccacgggccc	12	20	0	0			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	0.697													A	85695249	G	A	85695249	3	1	85	1	0	0	0	0	1	0	0	0	8159	1116	39	1	2172	1	KIAA0182	16	85695249	Missense_Mutation	SNP	G	TCGA-BR-8373-01A-11D-2340-08	76836563	85695249	4659504	91	57185											
ZCCHC14	23174	broad.mit.edu	37	chr16	87525317	87525317	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcgcgccgcccggcccGggcgcgcccttgccgccgtg	17	20	0	0			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	0.488													A	87525317	G	A	87525317	2	1	85	1	0	0	0	0	0	0	0	1	17580	1103	39	1		1	ZCCHC14	16	87525317	Silent	SNP	G	TCGA-BR-8373-01A-11D-2340-08	1830068	87525317	2829436	92	57186											
NEURL4	84461	broad.mit.edu	37	chr17	7224449	7224449	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcccaggccatgctcctcGccctcgtcatcctcctcgcc	6	22	1	0			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	0.602													A	7224449	G	A	7224449	2	1	85	1	0	0	0	0	0	0	0	1	10347	1074	38	1		1	NEURL4	17	7224449	Silent	SNP	G	TCGA-BR-8373-01A-11D-2340-08		7224449	73970761	93	57187											
AOC3	8639	broad.mit.edu	37	chr17	41003597	41003598	+	Frame_Shift_Ins	INS	-	-	G													gctttctgacccagcggctgINSgggccagggctggtggatgc							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													G	41003598	-	G	41003597	7	5	85	1	0	1	1	0	0	0	0	0	728	1335	47	0	239	0	AOC3	17	41003597	Frame_Shift_Ins	INS	-	TCGA-BR-8373-01A-11D-2340-08	33779148	41003597	40191613	94	57188											
SYNGR2	9144	broad.mit.edu	37	chr17	76167103	76167103	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacgccactgaccgcaAgtacctggtcattggtgacc	10	14	1	2			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	0.587													T	76167103	A	T	76167103	3	4	85	1	0	0	0	0	1	0	0	0	15446	72	3	5	311	5	SYNGR2	17	76167103	Missense_Mutation	SNP	A	TCGA-BR-8373-01A-11D-2340-08	35163506	76167103	5028107	95	57189											
DNAH17	8632	broad.mit.edu	37	chr17	76422673	76422673	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccacgtcggtcgtgatggtCagttctccctaggagacaca	11	12	2	2			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	0.612													T	76422673	C	T	76422673	2	4	85	1	0	0	0	0	0	0	0	1	4601	813	29	4		4	DNAH17	17	76422673	Silent	SNP	C	TCGA-BR-8373-01A-11D-2340-08	255570	76422673	4772537	96	57190											
LAMA1	284217	broad.mit.edu	37	chr18	7037694	7037694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctagtgcatcttgctgagaCgggatcttcctgggactgat	12	10	2	2			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	0.507													T	7037694	C	T	7037694	2	4	85	1	0	0	0	0	0	0	0	1	8605	523	19	1		1	LAMA1	18	7037694	Silent	SNP	C	TCGA-BR-8373-01A-11D-2340-08		7037694	71039554	97	57191											
SLC14A2	8170	broad.mit.edu	37	chr18	43248324	43248324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgccaggtcggccatcGctgcaggatttcacggctac	11	15	1	0			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	0.567													A	43248324	G	A	43248324	3	1	85	1	0	0	0	0	1	0	0	0	14397	1087	38	1	1972	1	SLC14A2	18	43248324	Missense_Mutation	SNP	G	TCGA-BR-8373-01A-11D-2340-08	36210630	43248324	34828924	98	57192											
ZNF560	147741	broad.mit.edu	37	chr19	9577900	9577900	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggctttcccacatttcaTacattcatagggtttctctc	6	11	3	0			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	0.393													G	9577900	T	G	9577900	3	3	85	1	0	0	0	0	1	0	0	0	17988	1406	49	5	653	5	ZNF560	19	9577900	Missense_Mutation	SNP	T	TCGA-BR-8373-01A-11D-2340-08		9577900	49551083	99	57193											
BRD4	23476	broad.mit.edu	37	chr19	15353741	15353741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtccgacttgtggtgccGgggtgaatggtggtgctgga	21	6	0	1			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	0.657			T	NUT|C15orf55	lethal midline carcinoma of young people								A	15353741	G	A	15353741	3	1	85	1	0	0	0	0	1	0	0	0	1504	1115	39	1	977	1	BRD4	19	15353741	Missense_Mutation	SNP	G	TCGA-BR-8373-01A-11D-2340-08	5775841	15353741	43775242	100	57194											
IFI30	10437	broad.mit.edu	37	chr19	18285919	18285919	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcaatgtgaccctctacTatgaagcactgtgcggtggc	11	10	2	2			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	0.572													A	18285919	T	A	18285919	3	1	85	1	0	0	0	0	1	0	0	0	7515	1522	53	5	208	5	IFI30	19	18285919	Missense_Mutation	SNP	T	TCGA-BR-8373-01A-11D-2340-08	2932178	18285919	40843064	101	57195											
PDE4C	5143	broad.mit.edu	37	chr19	18329839	18329839	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagtccccacttgttggtgtCttctagctcctaagatatga	8	10	2	2			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	0.517													A	18329839	C	A	18329839	3	1	85	1	0	0	0	0	1	0	0	0	11641	913	32	5	1190	5	PDE4C	19	18329839	Missense_Mutation	SNP	C	TCGA-BR-8373-01A-11D-2340-08	43920	18329839	40799144	102	57196											
KLC3	147700	broad.mit.edu	37	chr19	45852836	45852836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggccccatgaccccaaCgtggccaagaccaagaacaa	11	15	0	3			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	0.642													T	45852836	C	T	45852836	2	4	85	1	0	0	0	0	0	0	0	1	8335	535	19	1		1	KLC3	19	45852836	Silent	SNP	C	TCGA-BR-8373-01A-11D-2340-08	27522997	45852836	13276147	103	57197											
CD33	945	broad.mit.edu	37	chr19	51742771	51742771	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccttctttcctctccataAgaaacaccagaagaagtcca	4	15	2	3			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	0.502													C	51742771	A	C	51742771	5	2	85	1	0	0	0	0	0	0	1	0	3005	86	3	5	962	5	CD33	19	51742771	Splice_Site	SNP	A	TCGA-BR-8373-01A-11D-2340-08	5889935	51742771	7386212	104	57198											
FASTKD5	60493	broad.mit.edu	37	chr20	3129655	3129655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttcggactgcaccaaagGcagaaggactgcaaaatgct	10	11	0	1			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	0.473													A	3129655	G	A	3129655	3	1	85	1	0	0	0	0	1	0	0	0	5688	1203	42	2	2236	2	FASTKD5	20	3129655	Missense_Mutation	SNP	G	TCGA-BR-8373-01A-11D-2340-08		3129655	59895865	105	57199											
PTPRT	11122	broad.mit.edu	37	chr20	40710603	40710603	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgatgttttgctgctggatCatctcacacacactgcagat	8	10	2	2			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	0.498													T	40710603	C	T	40710603	3	4	85	1	0	0	0	0	1	0	0	0	12812	826	29	4	142	4	PTPRT	20	40710603	Missense_Mutation	SNP	C	TCGA-BR-8373-01A-11D-2340-08	37580948	40710603	22314917	106	57200											
RAB36	9609	broad.mit.edu	37	chr22	23503113	23503113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgtagccgccctggcattcGagcagtcggtgctgcaggac	15	13	0	0	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	0.607													A	23503113	G	A	23503113	3	1	85	1	0	0	0	0	1	0	0	0	12926	1059	37	1	903	1	RAB36	22	23503113	Missense_Mutation	SNP	G	TCGA-BR-8373-01A-11D-2340-08		23503113	27801453	107	57201											
SELO	83642	broad.mit.edu	37	chr22	50647001	50647001	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttttaagtctgcagatgaGcacacagggcgtgcaggccc	12	10	1	2			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	0.552													A	50647001	G	A	50647001	2	1	85	1	0	0	0	0	0	0	0	1	14018	962	34	2		2	SELO	22	50647001	Silent	SNP	G	TCGA-BR-8373-01A-11D-2340-08	27143888	50647001	657565	108	57202											
BRS3	680	broad.mit.edu	37	chrX	135572290	135572290	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgattatgtgtttctAgatacaaggcagttgtgaag	11	6	2	3			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	0.313													G	135572290	A	G	135572290	5	3	85	1	0	0	0	0	0	0	1	0	1522	434	15	3	439	3	BRS3	23	135572290	Splice_Site	SNP	A	TCGA-BR-8373-01A-11D-2340-08		135572290	19698270	109	57203											
PER3	8863	broad.mit.edu	37	chr1	7863904	7863904	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcattggtcggcataaagttCgaacgtaagccagtcagttt	10	8	2	0			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr1:7863904C>T	uc001aoo.2	+	9	1304	c.1129C>T	c.(1129-1131)CGA>TGA	p.R377*	PER3_uc009vmg.1_Nonsense_Mutation_p.R378*|PER3_uc009vmh.1_Nonsense_Mutation_p.R378*|PER3_uc001aop.2_Nonsense_Mutation_p.R378*|PER3_uc010nzw.1_Nonsense_Mutation_p.R59*|PER3_uc001aon.2_Nonsense_Mutation_p.R377*	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	377	PAC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GCATAAAGTTCGAACGTAAGC	0.388													T	7863904	C	T	7863904	4	4	86	1	0	0	0	0	0	1	0	0	11731	876	31	1	1163	1	PER3	1	7863904	Nonsense_Mutation	SNP	C	TCGA-BR-8380-01A-11D-2340-08		7863904	241386717	1	57204											
FBXO44	93611	broad.mit.edu	37	chr1	11715958	11715958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgttcacgcacgtgccCgcccgccagctgctgctgaa	12	16	1	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr1:11715958C>T	uc001asm.2	+	2	192	c.66C>T	c.(64-66)CCC>CCT	p.P22P	FBXO2_uc001asj.2_5'Flank|FBXO2_uc009vna.2_5'Flank|FBXO2_uc009vnb.1_5'Flank|FBXO44_uc001ask.2_Silent_p.P22P|FBXO44_uc010oaq.1_Silent_p.P22P|FBXO44_uc001asl.2_Silent_p.P22P|FBXO44_uc001asn.2_Silent_p.P22P|FBXO44_uc010oar.1_Silent_p.P22P|FBXO44_uc010oas.1_Intron	NM_033182	NP_149438	Q9H4M3	FBX44_HUMAN	F-box protein 44 isoform 1	22	F-box.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CGCACGTGCCCGCCCGCCAGC	0.632													T	11715958	C	T	11715958	2	4	86	1	0	0	0	0	0	0	0	1	5753	639	23	1		1	FBXO44	1	11715958	Silent	SNP	C	TCGA-BR-8380-01A-11D-2340-08	3852054	11715958	237534663	2	57205											
BRDT	676	broad.mit.edu	37	chr1	92433710	92433710	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atatattttgtagcctggagAtgacattgttcttatggcac	9	6	1	2			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr1:92433710A>T	uc001dok.3	+	4	687	c.338A>T	c.(337-339)GAT>GTT	p.D113V	BRDT_uc001dol.3_Missense_Mutation_p.D113V|BRDT_uc010osz.1_Missense_Mutation_p.D113V|BRDT_uc009wdf.2_Missense_Mutation_p.D40V|BRDT_uc010ota.1_Missense_Mutation_p.D67V|BRDT_uc010otb.1_Missense_Mutation_p.D67V|BRDT_uc001dom.3_Missense_Mutation_p.D113V	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	113	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TAGCCTGGAGATGACATTGTT	0.368													T	92433710	A	T	92433710	3	4	86	1	0	0	0	0	1	0	0	0	1508	333	12	5	348	5	BRDT	1	92433710	Missense_Mutation	SNP	A	TCGA-BR-8380-01A-11D-2340-08	80717752	92433710	156816911	3	57206											
CD1A	909	broad.mit.edu	37	chr1	158226001	158226001	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgacataacacacaatcTtctcagtgacacctgcccac	4	14	2	2			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr1:158226001T>C	uc001frt.2	+	3	1066	c.533T>C	c.(532-534)CTT>CCT	p.L178P		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	178	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACACACAATCTTCTCAGTGAC	0.473													C	158226001	T	C	158226001	3	2	86	1	0	0	0	0	1	0	0	0	2974	1609	56	3	543	3	CD1A	1	158226001	Missense_Mutation	SNP	T	TCGA-BR-8380-01A-11D-2340-08	65792291	158226001	91024620	4	57207											
DCAF6	55827	broad.mit.edu	37	chr1	167974018	167974018	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggcatctggacaccacacAcatcatcagtctggtgagga	11	11	4	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr1:167974018A>G	uc001gew.2	+	10	1607	c.1365A>G	c.(1363-1365)ACA>ACG	p.T455T	DCAF6_uc001gev.2_Silent_p.T455T|DCAF6_uc001gex.2_Silent_p.T455T|DCAF6_uc010plk.1_Silent_p.T424T|DCAF6_uc001gey.2_Silent_p.T308T	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform b	455					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GACACCACACACATCATCAGT	0.398													G	167974018	A	G	167974018	2	3	86	1	0	0	0	0	0	0	0	1	4274	146	6	3		3	DCAF6	1	167974018	Silent	SNP	A	TCGA-BR-8380-01A-11D-2340-08	9748017	167974018	81276603	5	57208											
SELP	6403	broad.mit.edu	37	chr1	169565209	169565209	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cattgtcctgaaggtctgcaGctgagagtgctgtctcctat	11	10	2	2			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr1:169565209G>C	uc001ggi.3	-	12	2120	c.2055C>G	c.(2053-2055)AGC>AGG	p.S685R	SELP_uc001ggh.2_Missense_Mutation_p.S520R|SELP_uc009wvr.2_Missense_Mutation_p.S685R	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	685	Extracellular (Potential).|Sushi 8.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	AAGGTCTGCAGCTGAGAGTGC	0.493													C	169565209	G	C	169565209	3	2	86	1	0	0	0	0	1	0	0	0	14019	962	34	5	457	5	SELP	1	169565209	Missense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08	1591191	169565209	79685412	6	57209											
PAPPA2	60676	broad.mit.edu	37	chr1	176668366	176668366	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggagctgctcttccaacaCccggtccaagccgacaccct	8	17	1	0			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr1:176668366C>T	uc001gkz.2	+	8	4041	c.2877C>T	c.(2875-2877)CAC>CAT	p.H959H	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	959					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						TCTTCCAACACCCGGTCCAAG	0.567													T	176668366	C	T	176668366	2	4	86	1	0	0	0	0	0	0	0	1	11433	506	18	4		4	PAPPA2	1	176668366	Silent	SNP	C	TCGA-BR-8380-01A-11D-2340-08	7103157	176668366	72582255	7	57210											
PAPPA2	60676	broad.mit.edu	37	chr1	176668713	176668713	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacacattctcacaggaAgttcacggacgtgtgagttt	12	8	2	2			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr1:176668713A>C	uc001gkz.2	+	8	4388	c.3224A>C	c.(3223-3225)AAG>ACG	p.K1075T	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1075					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						TCTCACAGGAAGTTCACGGAC	0.537													C	176668713	A	C	176668713	3	2	86	1	0	0	0	0	1	0	0	0	11433	72	3	5	3303	5	PAPPA2	1	176668713	Missense_Mutation	SNP	A	TCGA-BR-8380-01A-11D-2340-08	347	176668713	72581908	8	57211											
FAM71A	149647	broad.mit.edu	37	chr1	212798427	212798427	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acaaccgtgtccgtatggtgAccatgggcattgcacgtacc	11	12	0	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr1:212798427A>T	uc001hjk.2	+	1	612	c.208A>T	c.(208-210)ACC>TCC	p.T70S	uc010pth.1_Intron	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	70										skin(3)|ovary(1)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CCGTATGGTGACCATGGGCAT	0.527													T	212798427	A	T	212798427	3	4	86	1	0	0	0	0	1	0	0	0	5607	275	10	5	210	5	FAM71A	1	212798427	Missense_Mutation	SNP	A	TCGA-BR-8380-01A-11D-2340-08	36129714	212798427	36452194	9	57212											
RYR2	6262	broad.mit.edu	37	chr1	237870335	237870335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaaatcgtggaattagccGagtccggcattcgctacact	10	10	0	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr1:237870335G>A	uc001hyl.1	+	68	9787	c.9667G>A	c.(9667-9669)GAG>AAG	p.E3223K	RYR2_uc010pxz.1_Missense_Mutation_p.E178K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3223					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAATTAGCCGAGTCCGGCAT	0.468													A	237870335	G	A	237870335	3	1	86	1	0	0	0	0	1	0	0	0	13769	1059	37	1	9937	1	RYR2	1	237870335	Missense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08	25071908	237870335	11380286	10	57213											
OR2L2	26246	broad.mit.edu	37	chr1	248201664	248201664	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtattcaccctcatttttcTcattttcctaatggctctaa	3	12	4	0			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr1:248201664T>C	uc001idw.2	+	1	191	c.95T>C	c.(94-96)CTC>CCC	p.L32P	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTCATTTTTCTCATTTTCCTA	0.378													C	248201664	T	C	248201664	3	2	86	1	0	0	0	0	1	0	0	0	11007	1551	54	3	97	3	OR2L2	1	248201664	Missense_Mutation	SNP	T	TCGA-BR-8380-01A-11D-2340-08	10331329	248201664	1048957	11	57214											
APOB	338	broad.mit.edu	37	chr2	21227217	21227217	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcccacggtgcctacggctGgggaggctgctgaggtggag	19	10	0	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr2:21227217G>T	uc002red.2	-	28	12139	c.12011C>A	c.(12010-12012)CCA>CAA	p.P4004Q		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4004					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCCTACGGCTGGGGAGGCTGC	0.498													T	21227217	G	T	21227217	3	4	86	1	0	0	0	0	1	0	0	0	785	1348	47	5	1688	5	APOB	2	21227217	Missense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08		21227217	221972156	12	57215											
APOB	338	broad.mit.edu	37	chr2	21227262	21227262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcttgtctttctggtagCgcagatggagatcggtgaac	12	8	3	3	rs148197354		TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr2:21227262C>T	uc002red.2	-	28	12094	c.11966G>A	c.(11965-11967)CGC>CAC	p.R3989H		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3989					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTCTGGTAGCGCAGATGGAG	0.507													T	21227262	C	T	21227262	3	4	86	1	0	0	0	0	1	0	0	0	785	768	27	1	1733	1	APOB	2	21227262	Missense_Mutation	SNP	C	TCGA-BR-8380-01A-11D-2340-08	45	21227262	221972111	13	57216											
TBC1D8	11138	broad.mit.edu	37	chr2	101646088	101646088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagtctaccacattcaccGcactctctagaggcatgatg	8	13	3	2			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr2:101646088G>A	uc010fiv.2	-	12	2173	c.2042C>T	c.(2041-2043)GCG>GTG	p.A681V	TBC1D8_uc002tau.3_Missense_Mutation_p.A438V	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	681	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3						CACATTCACCGCACTCTCTAG	0.567													A	101646088	G	A	101646088	3	1	86	1	0	0	0	0	1	0	0	0	15622	1087	38	1	1416	1	TBC1D8	2	101646088	Missense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08	80418826	101646088	141553285	14	57217											
IL1R2	7850	broad.mit.edu	37	chr2	102644697	102644697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcccacagcctcctccaCgttctcctggggcattgtgc	8	17	2	0			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr2:102644697C>T	uc002tbm.2	+	9	1269	c.1040C>T	c.(1039-1041)ACG>ATG	p.T347M	IL1R2_uc002tbn.2_Missense_Mutation_p.T347M	NM_004633	NP_004624	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II precursor	347	Ig-like C2-type 3.|Helical; (Potential).				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			ovary(1)|breast(1)	2					Anakinra(DB00026)	GCCTCCTCCACGTTCTCCTGG	0.507													T	102644697	C	T	102644697	3	4	86	1	0	0	0	0	1	0	0	0	7659	536	19	1	1070	1	IL1R2	2	102644697	Missense_Mutation	SNP	C	TCGA-BR-8380-01A-11D-2340-08	998609	102644697	140554676	15	57218											
HOXD10	3236	broad.mit.edu	37	chr2	176981985	176981985	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccctgagtcttgtcccgttGagaaccctgaggttcccgtc	10	14	1	3			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr2:176981985G>A	uc002ukj.2	+	1	494	c.424G>A	c.(424-426)GAG>AAG	p.E142K		NM_002148	NP_002139	P28358	HXD10_HUMAN	homeobox D10	142						nucleus	sequence-specific DNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TTGTCCCGTTGAGAACCCTGA	0.522													A	176981985	G	A	176981985	3	1	86	1	0	0	0	0	1	0	0	0	7319	1291	45	4	426	4	HOXD10	2	176981985	Missense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08	74337288	176981985	66217388	16	57219											
PDE1A	5136	broad.mit.edu	37	chr2	183104879	183104879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacagcatgcacaatgctcCgaaattttggtttttcctca	7	10	1	0			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr2:183104879C>T	uc002uos.2	-	4	440	c.356G>A	c.(355-357)CGG>CAG	p.R119Q	PDE1A_uc010zfp.1_Missense_Mutation_p.R15Q|PDE1A_uc002uoq.1_Missense_Mutation_p.R119Q|PDE1A_uc010zfq.1_Missense_Mutation_p.R119Q|PDE1A_uc002uor.2_Missense_Mutation_p.R103Q|PDE1A_uc002uou.2_Missense_Mutation_p.R85Q	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 2	119					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CACAATGCTCCGAAATTTTGG	0.418													T	183104879	C	T	183104879	3	4	86	1	0	0	0	0	1	0	0	0	11633	652	23	1	1377	1	PDE1A	2	183104879	Missense_Mutation	SNP	C	TCGA-BR-8380-01A-11D-2340-08	6122894	183104879	60094494	17	57220											
SPAG16	79582	broad.mit.edu	37	chr2	215013968	215013968	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataggtccaagtcctggcaaTgaggtgaattttgattcatc	10	7	1	3			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr2:215013968T>G	uc002veq.2	+	15	1790	c.1698T>G	c.(1696-1698)AAT>AAG	p.N566K	SPAG16_uc010fuz.1_Missense_Mutation_p.N417K|SPAG16_uc002ver.2_Missense_Mutation_p.N512K|SPAG16_uc010zjk.1_Missense_Mutation_p.N472K	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	566	WD 6.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GTCCTGGCAATGAGGTGAATT	0.388													G	215013968	T	G	215013968	3	3	86	1	0	0	0	0	1	0	0	0	14978	1461	51	5	1772	5	SPAG16	2	215013968	Missense_Mutation	SNP	T	TCGA-BR-8380-01A-11D-2340-08	31909089	215013968	28185405	18	57221											
CLCN2	1181	broad.mit.edu	37	chr3	184073278	184073278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccctggcggacccacgtccGattgtcaaacagggtgacca	12	14	1	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr3:184073278G>A	uc003foi.2	-	12	1334	c.1210C>T	c.(1210-1212)CGG>TGG	p.R404W	CLCN2_uc003foh.2_5'UTR|CLCN2_uc010hya.1_Missense_Mutation_p.R404W|CLCN2_uc011brl.1_Missense_Mutation_p.R404W|CLCN2_uc011brm.1_Missense_Mutation_p.R360W|CLCN2_uc011brn.1_Missense_Mutation_p.R404W	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	404						chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	ACCCACGTCCGATTGTCAAAC	0.602													A	184073278	G	A	184073278	3	1	86	1	0	0	0	0	1	0	0	0	3463	1057	37	1	1538	1	CLCN2	3	184073278	Missense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08		184073278	13949152	19	57222											
KIAA1530	57654	broad.mit.edu	37	chr4	1374737	1374737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgacccggaagacagggctCgtgagcagcggcggcagctg	17	12	0	2			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr4:1374737C>T	uc003gde.3	+	12	2269	c.1822C>T	c.(1822-1824)CGT>TGT	p.R608C	KIAA1530_uc010ibv.2_Missense_Mutation_p.R159C	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	608											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			AGACAGGGCTCGTGAGCAGCG	0.667													T	1374737	C	T	1374737	3	4	86	1	0	0	0	0	1	0	0	0	8241	884	31	1	1864	1	KIAA1530	4	1374737	Missense_Mutation	SNP	C	TCGA-BR-8380-01A-11D-2340-08		1374737	189779539	20	57223											
WDR19	57728	broad.mit.edu	37	chr4	39254766	39254766	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgagctatttttttacagAtacaaagaagctgttgtagc	8	6	1	3			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr4:39254766A>C	uc003gtv.2	+	25	2884	c.2730A>C	c.(2728-2730)AGA>AGC	p.R910S	WDR19_uc011byi.1_Missense_Mutation_p.R750S|WDR19_uc003gtw.1_Missense_Mutation_p.R507S	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	910	TPR 4.				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TTTTTTACAGATACAAAGAAG	0.318													C	39254766	A	C	39254766	3	2	86	1	0	0	0	0	1	0	0	0	17276	347	12	5	2828	5	WDR19	4	39254766	Missense_Mutation	SNP	A	TCGA-BR-8380-01A-11D-2340-08	37880029	39254766	151899510	21	57224											
TACR3	6870	broad.mit.edu	37	chr4	104640591	104640591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcgcgatgcgccaggacGgctgcacgaactggttggtg	17	10	0	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr4:104640591G>A	uc003hxe.1	-	1	385	c.242C>T	c.(241-243)CCG>CTG	p.P81L		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	81	Extracellular (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GCGCCAGGACGGCTGCACGAA	0.647													A	104640591	G	A	104640591	3	1	86	1	0	0	0	0	1	0	0	0	15504	1116	39	1	1175	1	TACR3	4	104640591	Missense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08	65385825	104640591	86513685	22	57225											
FBXW7	55294	broad.mit.edu	37	chr4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaccctaagagtggcatctCgagaaccgctaacaactctg	8	12	2	2			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr4:153247366C>T	uc003ims.2	-	10	1585	c.1436G>A	c.(1435-1437)CGA>CAA	p.R479Q	FBXW7_uc011cii.1_Missense_Mutation_p.R479Q|FBXW7_uc003imt.2_Missense_Mutation_p.R479Q|FBXW7_uc011cih.1_Missense_Mutation_p.R303Q|FBXW7_uc003imq.2_Missense_Mutation_p.R399Q|FBXW7_uc003imr.2_Missense_Mutation_p.R361Q	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	479	WD 3.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R479Q(31)|p.R479L(7)|p.R479G(3)|p.R399Q(2)|p.R240L(1)|p.R399L(1)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403			Mis|N|D|F		colorectal|endometrial|T-ALL								T	153247366	C	T	153247366	3	4	86	1	0	0	0	0	1	0	0	0	5769	884	31	1	699	1	FBXW7	4	153247366	Missense_Mutation	SNP	C	TCGA-BR-8380-01A-11D-2340-08	48606775	153247366	37906910	23	57226											
DNAH5	1767	broad.mit.edu	37	chr5	13769145	13769145	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagcaatggctttgtctttaGagatgctgtccacaatggcc	10	10	1	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr5:13769145G>C	uc003jfd.2	-	58	9863	c.9821C>G	c.(9820-9822)TCT>TGT	p.S3274C	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3274	Stalk (By similarity).|Potential.				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)					TTTGTCTTTAGAGATGCTGTC	0.458									Kartagener_syndrome				C	13769145	G	C	13769145	3	2	86	1	0	0	0	0	1	0	0	0	4604	942	33	5	4141	5	DNAH5	5	13769145	Missense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08		13769145	167146115	24	57227											
DDX4	54514	broad.mit.edu	37	chr5	55094378	55094378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaaaaagagaaaagctcGttgaaattctgcgaaacata	7	7	2	2			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr5:55094378G>A	uc003jqg.3	+	18	1668	c.1594G>A	c.(1594-1596)GTT>ATT	p.V532I	DDX4_uc010ivz.2_Missense_Mutation_p.V512I|DDX4_uc003jqh.3_Missense_Mutation_p.V498I|DDX4_uc003jqj.2_Missense_Mutation_p.V383I	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform	532	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|skin(1)	2		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				AGAAAAGCTCGTTGAAATTCT	0.328													A	55094378	G	A	55094378	3	1	86	1	0	0	0	0	1	0	0	0	4360	1145	40	1	1701	1	DDX4	5	55094378	Missense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08	41325233	55094378	125820882	25	57228											
HTR1A	3350	broad.mit.edu	37	chr5	63256939	63256939	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagcgggatgtagaaaGctccaaaggtggaatagata	14	6	0	2			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr5:63256939G>T	uc011cqt.1	-	1	608	c.608C>A	c.(607-609)GCT>GAT	p.A203D		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	203	Helical; Name=5; (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GATGTAGAAAGCTCCAAAGGT	0.587													T	63256939	G	T	63256939	3	4	86	1	0	0	0	0	1	0	0	0	7436	971	34	5	663	5	HTR1A	5	63256939	Missense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08	8162561	63256939	117658321	26	57229											
CTNNA1	1495	broad.mit.edu	37	chr5	138221962	138221962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agataaaatgaccaagaagaCcagggacttgcgtagacagg	12	7	0	5			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr5:138221962C>T	uc003ldh.2	+	8	1219	c.1124C>T	c.(1123-1125)ACC>ATC	p.T375I	CTNNA1_uc011cyx.1_Missense_Mutation_p.T272I|CTNNA1_uc011cyy.1_Missense_Mutation_p.T252I|CTNNA1_uc003ldi.2_Missense_Mutation_p.T73I|CTNNA1_uc003ldj.2_Missense_Mutation_p.T375I|CTNNA1_uc003ldl.2_Missense_Mutation_p.T5I	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	375	Interaction with alpha-actinin.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACCAAGAAGACCAGGGACTTG	0.358													T	138221962	C	T	138221962	3	4	86	1	0	0	0	0	1	0	0	0	4012	507	18	4	1150	4	CTNNA1	5	138221962	Missense_Mutation	SNP	C	TCGA-BR-8380-01A-11D-2340-08	74965023	138221962	42693298	27	57230											
HCRTR2	3062	broad.mit.edu	37	chr6	55145214	55145214	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtatatgccaatagtgctgcGaatccaattatttataattt	6	6	0	0			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr6:55145214G>A	uc003pcl.2	+	6	1392	c.1077G>A	c.(1075-1077)GCG>GCA	p.A359A	HCRTR2_uc010jzv.2_RNA	NM_001526	NP_001517	O43614	OX2R_HUMAN	orexin receptor 2	359	Helical; Name=7; (Potential).				feeding behavior	integral to plasma membrane	neuropeptide receptor activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATAGTGCTGCGAATCCAATTA	0.343													A	55145214	G	A	55145214	2	1	86	1	0	0	0	0	0	0	0	1	7002	1045	37	1		1	HCRTR2	6	55145214	Silent	SNP	G	TCGA-BR-8380-01A-11D-2340-08		55145214	115969853	28	57231											
HOXA1	3198	broad.mit.edu	37	chr7	27135441	27135441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaagttgtaatcctatggtCcgaggggtaggctcgggctg	16	7	0	0			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr7:27135441C>T	uc003sye.2	-	1	185	c.91G>A	c.(91-93)GAC>AAC	p.D31N	HOXA1_uc003syd.2_Missense_Mutation_p.D31N|uc003syg.2_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	homeobox A1 isoform a	31						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3						ATCCTATGGTCCGAGGGGTAG	0.597											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	27135441	C	T	27135441	3	4	86	1	0	0	0	0	1	0	0	0	7288	855	30	4	924	4	HOXA1	7	27135441	Missense_Mutation	SNP	C	TCGA-BR-8380-01A-11D-2340-08		27135441	132003222	29	57232											
HECW1	23072	broad.mit.edu	37	chr7	43484720	43484720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggcccaggatggcgacaCgcaccccagcaccgggagcg	15	17	0	0			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr7:43484720C>T	uc003tid.1	+	11	2554	c.1949C>T	c.(1948-1950)ACG>ATG	p.T650M	HECW1_uc011kbi.1_Missense_Mutation_p.T650M	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	650					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GATGGCGACACGCACCCCAGC	0.716													T	43484720	C	T	43484720	3	4	86	1	0	0	0	0	1	0	0	0	7042	536	19	1	1983	1	HECW1	7	43484720	Missense_Mutation	SNP	C	TCGA-BR-8380-01A-11D-2340-08	16349279	43484720	115653943	30	57233											
HEPACAM2	253012	broad.mit.edu	37	chr7	92855746	92855746	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caccgaagggctccatgaaaGcatcctgtcccatgcatgca	9	14	0	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr7:92855746G>C	uc003umm.2	-	1	37	c.14C>G	c.(13-15)GCT>GGT	p.A5G	HEPACAM2_uc011khy.1_Missense_Mutation_p.A5G	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 1	5						integral to membrane				ovary(3)|breast(1)|kidney(1)	5						CTCCATGAAAGCATCCTGTCC	0.488													C	92855746	G	C	92855746	3	2	86	1	0	0	0	0	1	0	0	0	7053	971	34	5	1457	5	HEPACAM2	7	92855746	Missense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08	49371026	92855746	66282917	31	57234											
SVOPL	136306	broad.mit.edu	37	chr7	138329520	138329520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggttcatcttggcaacgCgctccagagtggccagggca	14	12	2	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr7:138329520C>T	uc011kqh.1	-	8	731	c.731G>A	c.(730-732)CGC>CAC	p.R244H	SVOPL_uc003vue.2_Missense_Mutation_p.R92H	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	SVOP-like isoform 1	244						integral to membrane	transmembrane transporter activity				0						CTTGGCAACGCGCTCCAGAGT	0.587													T	138329520	C	T	138329520	3	4	86	1	0	0	0	0	1	0	0	0	15421	768	27	1	779	1	SVOPL	7	138329520	Missense_Mutation	SNP	C	TCGA-BR-8380-01A-11D-2340-08	45473774	138329520	20809143	32	57235											
SMARCD3	6604	broad.mit.edu	37	chr7	150936233	150936233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctccagctcctgcctgcGctgctggatctttagaggaa	11	13	1	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr7:150936233G>A	uc003wjs.2	-	13	1509	c.1408C>T	c.(1408-1410)CGC>TGC	p.R470C	SMARCD3_uc003wjt.2_Missense_Mutation_p.R457C|SMARCD3_uc003wju.2_Missense_Mutation_p.R457C	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin	470					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTGCCTGCGCTGCTGGATC	0.572													A	150936233	G	A	150936233	3	1	86	1	0	0	0	0	1	0	0	0	14779	1087	38	1	47	1	SMARCD3	7	150936233	Missense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08	12606713	150936233	8202430	33	57236											
ELAVL2	1993	broad.mit.edu	37	chr9	23762098	23762098	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtcatgttctgaggaagGtagttgactattaagttggt	13	3	2	2			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr9:23762098G>C	uc003zpu.2	-	2	410	c.135C>G	c.(133-135)TAC>TAG	p.Y45*	ELAVL2_uc003zps.2_Nonsense_Mutation_p.Y45*|ELAVL2_uc003zpt.2_Nonsense_Mutation_p.Y45*|ELAVL2_uc003zpv.2_Nonsense_Mutation_p.Y45*|ELAVL2_uc003zpw.2_Nonsense_Mutation_p.Y45*	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	45	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TCTGAGGAAGGTAGTTGACTA	0.428													C	23762098	G	C	23762098	4	2	86	1	0	0	0	0	0	1	0	0	5050	1256	44	5	968	5	ELAVL2	9	23762098	Nonsense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08		23762098	117451333	34	57237			1	26		2	2	23	N	T_G	5.756256e-05
ELAVL2	1993	broad.mit.edu	37	chr9	23762120	23762120	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agttgactattaagttggtcTtgctgtcttctgtgttccca	9	8	3	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr9:23762120T>G	uc003zpu.2	-	2	388	c.113A>C	c.(112-114)AAG>ACG	p.K38T	ELAVL2_uc003zps.2_Missense_Mutation_p.K38T|ELAVL2_uc003zpt.2_Missense_Mutation_p.K38T|ELAVL2_uc003zpv.2_Missense_Mutation_p.K38T|ELAVL2_uc003zpw.2_Missense_Mutation_p.K38T	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	38					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TAAGTTGGTCTTGCTGTCTTC	0.443													G	23762120	T	G	23762120	3	3	86	1	0	0	0	0	1	0	0	0	5050	1609	56	5	990	5	ELAVL2	9	23762120	Missense_Mutation	SNP	T	TCGA-BR-8380-01A-11D-2340-08	22	23762120	117451311	35	57238			1	26		2	2	23	N	T_G	5.756256e-05
FBXO10	26267	broad.mit.edu	37	chr9	37521626	37521626	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatgggccggcgcagtgGgtcgtcctccttctccagct	15	13	1	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr9:37521626G>T	uc004aab.2	-	8	2189	c.2140C>A	c.(2140-2142)CCA>ACA	p.P714T	FBXO10_uc004aac.2_Missense_Mutation_p.P730T|FBXO10_uc004aad.2_Missense_Mutation_p.P264T	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	F-box protein 10	714						ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)		CGGCGCAGTGGGTCGTCCTCC	0.562													T	37521626	G	T	37521626	3	4	86	1	0	0	0	0	1	0	0	0	5726	1232	43	5	746	5	FBXO10	9	37521626	Missense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08	13759506	37521626	103691805	36	57239											
TTC16	158248	broad.mit.edu	37	chr9	130489637	130489637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcctttgattgcgacctccGaggagctgaaggccacccct	11	14	0	2			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr9:130489637G>A	uc004brq.1	+	12	1724	c.1657G>A	c.(1657-1659)GAG>AAG	p.E553K	PTRH1_uc011mah.1_5'Flank|TTC16_uc011mai.1_Missense_Mutation_p.E540K|TTC16_uc004brr.1_Missense_Mutation_p.E403K|TTC16_uc010mxn.1_Missense_Mutation_p.E149K	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	553							binding				0						TGCGACCTCCGAGGAGCTGAA	0.517													A	130489637	G	A	130489637	3	1	86	1	0	0	0	0	1	0	0	0	16680	1059	37	1	1703	1	TTC16	9	130489637	Missense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08	92968011	130489637	10723794	37	57240											
ST6GALNAC4	27090	broad.mit.edu	37	chr9	130674788	130674788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcacgcttgtgtgtgagaCgacacgcagggtgctgcgct	16	11	0	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr9:130674788C>T	uc004bss.2	-	4	646	c.370G>A	c.(370-372)GTC>ATC	p.V124I	ST6GALNAC4_uc004bst.2_Missense_Mutation_p.V40I	NM_175039	NP_778204	Q9H4F1	SIA7D_HUMAN	sialyltransferase 7D isoform a	124	Lumenal (Potential).				glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity				0						GTGTGTGAGACGACACGCAGG	0.632													T	130674788	C	T	130674788	3	4	86	1	0	0	0	0	1	0	0	0	15225	536	19	1	550	1	ST6GALNAC4	9	130674788	Missense_Mutation	SNP	C	TCGA-BR-8380-01A-11D-2340-08	185151	130674788	10538643	38	57241											
GATA3	2625	broad.mit.edu	37	chr10	8100641	8100641	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcccactcccgtggcagcatGaccgccctgggtggagcctc	12	17	0	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr10:8100641G>A	uc001ika.2	+	3	1172	c.615G>A	c.(613-615)ATG>ATA	p.M205I	GATA3_uc001ijz.2_Missense_Mutation_p.M205I	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	205					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22						GTGGCAGCATGACCGCCCTGG	0.687			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						A	8100641	G	A	8100641	3	1	86	1	0	0	0	0	1	0	0	0	6255	1290	45	4	621	4	GATA3	10	8100641	Missense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08		8100641	127434106	39	57242											
CELF2	10659	broad.mit.edu	37	chr10	11259399	11259399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctgtaggttgttgtttcGtaacattttatacaagaaaa	7	5	1	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr10:11259399G>A	uc001iki.3	+	3	354	c.262G>A	c.(262-264)GTA>ATA	p.V88I	CELF2_uc010qbi.1_Intron|CELF2_uc010qbj.1_Missense_Mutation_p.V88I|CELF2_uc001ikk.2_Missense_Mutation_p.V95I|CELF2_uc001ikl.3_Missense_Mutation_p.V95I|CELF2_uc010qbk.1_RNA|CELF2_uc010qbl.1_Missense_Mutation_p.V64I|CELF2_uc010qbm.1_Intron|CELF2_uc001iko.3_Missense_Mutation_p.V64I|CELF2_uc001ikp.3_Missense_Mutation_p.V64I|CELF2_uc010qbn.1_Missense_Mutation_p.V72I|CELF2_uc009xiw.1_Intron|CELF2_uc010qbo.1_Intron|CELF2_uc010qbp.1_Intron	NM_001025077	NP_001020248	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2	88	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 1.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0						TTGTTGTTTCGTAACATTTTA	0.368													A	11259399	G	A	11259399	3	1	86	1	0	0	0	0	1	0	0	0	3216	1145	40	1	350	1	CELF2	10	11259399	Missense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08	3158758	11259399	124275348	40	57243											
FRMPD2	143162	broad.mit.edu	37	chr10	49376666	49376666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctccagctcaggcagcGcacctggagggggtcggcaa	15	14	1	0			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr10:49376666G>A	uc001jgi.2	-	27	3616	c.3509C>T	c.(3508-3510)GCG>GTG	p.A1170V	FRMPD2_uc001jgh.2_Missense_Mutation_p.A1138V|FRMPD2_uc001jgj.2_Missense_Mutation_p.A1148V|FRMPD2L1_uc001jgf.2_Missense_Mutation_p.A181V|FRMPD2_uc001jgg.2_Missense_Mutation_p.A122V|FRMPD2_uc001jgk.2_Missense_Mutation_p.A122V	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	1170					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		CTCAGGCAGCGCACCTGGAGG	0.572													A	49376666	G	A	49376666	3	1	86	1	0	0	0	0	1	0	0	0	6058	1087	38	1	432	1	FRMPD2	10	49376666	Missense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08	38117267	49376666	86158081	41	57244											
OR5T2	219464	broad.mit.edu	37	chr11	55999758	55999758	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccgaagcatagctggaacTtggtctcacatacatgaaga	10	9	1	2			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr11:55999758T>G	uc010rjc.1	-	1	904	c.904A>C	c.(904-906)AGT>CGT	p.S302R		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	302	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TAGCTGGAACTTGGTCTCACA	0.428													G	55999758	T	G	55999758	3	3	86	1	0	0	0	0	1	0	0	0	11182	1609	56	5	174	5	OR5T2	11	55999758	Missense_Mutation	SNP	T	TCGA-BR-8380-01A-11D-2340-08		55999758	79006758	42	57245											
OR9G4	283189	broad.mit.edu	37	chr11	56510973	56510973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccagccaaggaaatgcgCttatcttctgagacacaact	7	12	2	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr11:56510973C>T	uc010rjo.1	-	1	315	c.315G>A	c.(313-315)AAG>AAA	p.K105K		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	105	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						AGGAAATGCGCTTATCTTCTG	0.463													T	56510973	C	T	56510973	2	4	86	1	0	0	0	0	0	0	0	1	11251	796	28	2		2	OR9G4	11	56510973	Silent	SNP	C	TCGA-BR-8380-01A-11D-2340-08	511215	56510973	78495543	43	57246											
MMP27	64066	broad.mit.edu	37	chr11	102563733	102563733	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgttttaccactctctgCgggaaccctttgtccatggt	9	11	1	0	rs138562543	by1000genomes	TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr11:102563733C>T	uc001phd.1	-	9	1256	c.1233G>A	c.(1231-1233)CCG>CCA	p.P411P		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	matrix metalloproteinase 27 precursor	411	Hemopexin-like 3.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CCACTCTCTGCGGGAACCCTT	0.433													T	102563733	C	T	102563733	2	4	86	1	0	0	0	0	0	0	0	1	9664	755	27	1		1	MMP27	11	102563733	Silent	SNP	C	TCGA-BR-8380-01A-11D-2340-08	46052760	102563733	32442783	44	57247											
FGF23	8074	broad.mit.edu	37	chr12	4479725	4479725	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctccgagtcgtcctcggcGctccgggtgtgccgccgtgg	16	16	0	0			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr12:4479725G>A	uc001qmq.1	-	3	686	c.540C>T	c.(538-540)AGC>AGT	p.S180S		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23 precursor	180		Cleavage; by proprotein convertases.			cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			ovary(2)|breast(1)|skin(1)	4			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CGTCCTCGGCGCTCCGGGTGT	0.687													A	4479725	G	A	4479725	2	1	86	1	0	0	0	0	0	0	0	1	5852	1078	38	1		1	FGF23	12	4479725	Silent	SNP	G	TCGA-BR-8380-01A-11D-2340-08		4479725	129372170	45	57248											
TRPV4	59341	broad.mit.edu	37	chr12	110230484	110230484	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatgatgctataggtcccCgtcagcttcagcccacgggt	10	13	3	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr12:110230484C>T	uc001tpj.1	-	10	1892	c.1797G>A	c.(1795-1797)ACG>ACA	p.T599T	TRPV4_uc001tpg.1_Silent_p.T565T|TRPV4_uc001tph.1_Silent_p.T552T|TRPV4_uc001tpi.1_Silent_p.T492T|TRPV4_uc001tpk.1_Silent_p.T599T|TRPV4_uc001tpl.1_Silent_p.T539T	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	599	Cytoplasmic (Potential).				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TATAGGTCCCCGTCAGCTTCA	0.577													T	110230484	C	T	110230484	2	4	86	1	0	0	0	0	0	0	0	1	16595	639	23	1		1	TRPV4	12	110230484	Silent	SNP	C	TCGA-BR-8380-01A-11D-2340-08	105750759	110230484	23621411	46	57249											
RCBTB1	55213	broad.mit.edu	37	chr13	50140787	50140787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaacatgtggtccactccCgtaactgaggcttttaatct	8	10	1	2			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr13:50140787C>T	uc001vde.1	-	4	505	c.244G>A	c.(244-246)GGG>AGG	p.G82R		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and	82	RCC1 1.				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(1)	1		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GGTCCACTCCCGTAACTGAGG	0.423													T	50140787	C	T	50140787	3	4	86	1	0	0	0	0	1	0	0	0	13171	652	23	1	1391	1	RCBTB1	13	50140787	Missense_Mutation	SNP	C	TCGA-BR-8380-01A-11D-2340-08		50140787	65029091	47	57250											
TBPL2	387332	broad.mit.edu	37	chr14	55907216	55907216	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggtaagagggtaagcgCggagcgagcagcctcggaac	19	9	0	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr14:55907216C>T	uc001xby.2	-	1	48	c.48G>A	c.(46-48)CCG>CCA	p.P16P		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	16					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding				0						AGGGTAAGCGCGGAGCGAGCA	0.692													T	55907216	C	T	55907216	2	4	86	1	0	0	0	0	0	0	0	1	15643	755	27	1		1	TBPL2	14	55907216	Silent	SNP	C	TCGA-BR-8380-01A-11D-2340-08		55907216	51442324	48	57251											
HSPA2	3306	broad.mit.edu	37	chr14	65008905	65008905	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtactggtgcaggtataCgagggcgaacgggccatgac	16	9	0	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr14:65008905C>T	uc001xhj.2	+	2	1414	c.1338C>T	c.(1336-1338)TAC>TAT	p.Y446Y	HSPA2_uc001xhk.3_Silent_p.Y446Y	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	446					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)		TGCAGGTATACGAGGGCGAAC	0.597													T	65008905	C	T	65008905	2	4	86	1	0	0	0	0	0	0	0	1	7411	547	19	1		1	HSPA2	14	65008905	Silent	SNP	C	TCGA-BR-8380-01A-11D-2340-08	9101689	65008905	42340635	49	57252											
TSHR	7253	broad.mit.edu	37	chr14	81609934	81609934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcgagttatcggtgtataCgctgacggtcatcaccctgg	12	10	2	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr14:81609934C>T	uc001xvd.1	+	10	1688	c.1532C>T	c.(1531-1533)ACG>ATG	p.T511M		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	511	Helical; Name=3; (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCGGTGTATACGCTGACGGTC	0.577			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 						T	81609934	C	T	81609934	3	4	86	1	0	0	0	0	1	0	0	0	16619	536	19	1	1707	1	TSHR	14	81609934	Missense_Mutation	SNP	C	TCGA-BR-8380-01A-11D-2340-08	16601029	81609934	25739606	50	57253											
RAGE	5891	broad.mit.edu	37	chr14	102700063	102700063	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcttctgagcgggtgtgccGatgacatcgtggatttttga	13	7	2	3			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr14:102700063G>A	uc001ylm.2	-	8	880	c.654C>T	c.(652-654)ATC>ATT	p.I218I	RAGE_uc010txv.1_Silent_p.I188I|RAGE_uc001yln.2_Silent_p.I36I|RAGE_uc001ylh.2_RNA|RAGE_uc001yli.2_RNA|RAGE_uc001yll.2_RNA|RAGE_uc001ylj.2_RNA|RAGE_uc001ylk.2_RNA	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN	MAPK/MAK/MRK overlapping kinase	218	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						CGGGTGTGCCGATGACATCGT	0.527													A	102700063	G	A	102700063	2	1	86	1	0	0	0	0	0	0	0	1	13006	1048	37	1		1	RAGE	14	102700063	Silent	SNP	G	TCGA-BR-8380-01A-11D-2340-08	21090129	102700063	4649477	51	57254											
TLN2	83660	broad.mit.edu	37	chr15	63111822	63111822	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggaagccatgaaaggTaggctggattctcacgtctt	14	9	2	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr15:63111822T>A	uc002alb.3	+	50	6877	c.6877_splice	c.e50+2	p.G2293_splice	TLN2_uc002alc.3_Splice_Site_p.G686_splice|TLN2_uc010uic.1_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2						cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						CCATGAAAGGTAGGCTGGATT	0.572													A	63111822	T	A	63111822	5	1	86	1	0	0	0	0	0	0	1	0	15945	1652	57	5	7077	5	TLN2	15	63111822	Splice_Site	SNP	T	TCGA-BR-8380-01A-11D-2340-08		63111822	39419570	52	57255											
NOX5	79400	broad.mit.edu	37	chr15	69328256	69328256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctccagttcctgcatcCgcaggagtggccactttgag	11	13	1	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr15:69328256C>T	uc002ars.1	+	7	1188	c.1168C>T	c.(1168-1170)CGC>TGC	p.R390C	NOX5_uc002arp.1_Missense_Mutation_p.R372C|NOX5_uc002arq.1_Missense_Mutation_p.R344C|NOX5_uc010bid.1_Missense_Mutation_p.R355C|NOX5_uc002arr.1_Missense_Mutation_p.R362C|NOX5_uc010bie.1_Missense_Mutation_p.R190C|NOX5_uc010bif.1_RNA	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	390	Ferric oxidoreductase.|Cytoplasmic (Potential).				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(1)|pancreas(1)	2						TTCCTGCATCCGCAGGAGTGG	0.582													T	69328256	C	T	69328256	3	4	86	1	0	0	0	0	1	0	0	0	10559	652	23	1	1227	1	NOX5	15	69328256	Missense_Mutation	SNP	C	TCGA-BR-8380-01A-11D-2340-08	6216434	69328256	33203136	53	57256											
NEO1	4756	broad.mit.edu	37	chr15	73552659	73552659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcacgtacgcccgctcGttactagcatcgtagtgagc	9	14	2	1	rs140293397		TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr15:73552659G>A	uc002avm.3	+	15	2393	c.2251G>A	c.(2251-2253)GTT>ATT	p.V751I	NEO1_uc010ukx.1_Missense_Mutation_p.V751I|NEO1_uc010uky.1_Missense_Mutation_p.V751I|NEO1_uc010ukz.1_Missense_Mutation_p.V175I|NEO1_uc002avn.3_Missense_Mutation_p.V416I	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	751	Extracellular (Potential).|Fibronectin type-III 4.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						ACGCCCGCTCGTTACTAGCAT	0.483													A	73552659	G	A	73552659	3	1	86	1	0	0	0	0	1	0	0	0	10336	1145	40	1	2309	1	NEO1	15	73552659	Missense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08	4224403	73552659	28978733	54	57257											
ALPK3	57538	broad.mit.edu	37	chr15	85383832	85383832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaccctgagtgtccgggCgcctggggagagtcccaagg	16	13	0	3			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr15:85383832C>T	uc002ble.2	+	5	2095	c.1928C>T	c.(1927-1929)GCG>GTG	p.A643V		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	643					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGTGTCCGGGCGCCTGGGGAG	0.652													T	85383832	C	T	85383832	3	4	86	1	0	0	0	0	1	0	0	0	546	768	27	1	1946	1	ALPK3	15	85383832	Missense_Mutation	SNP	C	TCGA-BR-8380-01A-11D-2340-08	11831173	85383832	17147560	55	57258											
TTLL13	440307	broad.mit.edu	37	chr15	90799041	90799041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccgcaaagatctgctggctCggaacctcaaccgcatgtac	10	14	2	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr15:90799041C>T	uc002bpd.1	+	5	760	c.472C>T	c.(472-474)CGG>TGG	p.R158W	TTLL13_uc002bpe.1_Intron	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	158	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TCTGCTGGCTCGGAACCTCAA	0.532													T	90799041	C	T	90799041	3	4	86	1	0	0	0	0	1	0	0	0	16723	875	31	1	486	1	TTLL13	15	90799041	Missense_Mutation	SNP	C	TCGA-BR-8380-01A-11D-2340-08	5415209	90799041	11732351	56	57259											
E4F1	1877	broad.mit.edu	37	chr16	2285333	2285333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggcgctgggcccagaggcGgctgccgccgacaccatcac	14	17	1	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr16:2285333G>A	uc002cpm.2	+	14	2163	c.2115G>A	c.(2113-2115)GCG>GCA	p.A705A	E4F1_uc010bsi.2_3'UTR|E4F1_uc010bsj.2_Silent_p.A528A|DNASE1L2_uc002cpn.2_5'Flank|DNASE1L2_uc002cpo.2_5'Flank|DNASE1L2_uc002cpp.2_5'Flank|DNASE1L2_uc002cpq.2_5'Flank	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	p120E4F	705				EA -> RG (in Ref. 1; AAD09139).	cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GCCCAGAGGCGGCTGCCGCCG	0.672													A	2285333	G	A	2285333	2	1	86	1	0	0	0	0	0	0	0	1	4874	1103	39	1		1	E4F1	16	2285333	Silent	SNP	G	TCGA-BR-8380-01A-11D-2340-08		2285333	88069420	57	57260											
SRRM2	23524	broad.mit.edu	37	chr16	2815007	2815007	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaaagctttgcctcagactcCtaggccgaggagtcgttctc	11	12	2	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr16:2815007C>G	uc002crk.2	+	11	5027	c.4478C>G	c.(4477-4479)CCT>CGT	p.P1493R	SRRM2_uc002crj.1_Missense_Mutation_p.P1397R|SRRM2_uc002crl.1_Missense_Mutation_p.P1493R|SRRM2_uc010bsu.1_Missense_Mutation_p.P1397R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1493	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CCTCAGACTCCTAGGCCGAGG	0.498													G	2815007	C	G	2815007	3	3	86	1	0	0	0	0	1	0	0	0	15168	681	24	5	4516	5	SRRM2	16	2815007	Missense_Mutation	SNP	C	TCGA-BR-8380-01A-11D-2340-08	529674	2815007	87539746	58	57261											
ABCC6	368	broad.mit.edu	37	chr16	16256896	16256896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcctctggctttcatctaCgcgagcattgttctgagcca	9	12	4	1	rs147794514		TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr16:16256896C>T	uc002den.3	-	24	3497	c.3460G>A	c.(3460-3462)GTA>ATA	p.V1154I	ABCC6_uc010bvo.2_Intron	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	1154	ABC transmembrane type-1 2.|Cytoplasmic (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTTTCATCTACGCGAGCATTG	0.572													T	16256896	C	T	16256896	3	4	86	1	0	0	0	0	1	0	0	0	57	536	19	1	1083	1	ABCC6	16	16256896	Missense_Mutation	SNP	C	TCGA-BR-8380-01A-11D-2340-08	13441889	16256896	74097857	59	57262											
TPPP3	51673	broad.mit.edu	37	chr16	67424237	67424237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgctggtgtccgtcagcCggtctacagcaccccctgtt	10	15	3	0			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr16:67424237C>T	uc002esz.2	-	3	1206	c.371G>A	c.(370-372)CGG>CAG	p.R124Q	TPPP3_uc002eta.2_Missense_Mutation_p.R124Q|TPPP3_uc002etb.2_Missense_Mutation_p.R124Q	NM_016140	NP_057224	Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family	124					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		GTCCGTCAGCCGGTCTACAGC	0.617													T	67424237	C	T	67424237	3	4	86	1	0	0	0	0	1	0	0	0	16412	652	23	1	163	1	TPPP3	16	67424237	Missense_Mutation	SNP	C	TCGA-BR-8380-01A-11D-2340-08	51167341	67424237	22930516	60	57263											
SMG6	23293	broad.mit.edu	37	chr17	2203683	2203683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcttgtccagcagtcctagGaaaggattcttgtccccgat	9	12	2	0			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr17:2203683G>A	uc002fub.1	-	2	419	c.364C>T	c.(364-366)CCT>TCT	p.P122S	SMG6_uc002fud.1_Missense_Mutation_p.P91S	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	122	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4						GCAGTCCTAGGAAAGGATTCT	0.443													A	2203683	G	A	2203683	3	1	86	1	0	0	0	0	1	0	0	0	14797	1174	41	4	3967	4	SMG6	17	2203683	Missense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08		2203683	78991527	61	57264											
MINK1	50488	broad.mit.edu	37	chr17	4794768	4794768	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcctggtggcacaccgGgtcccactgaagccatatgc	12	14	0	2			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr17:4794768G>A	uc010vsl.1	+	16	1954	c.1758G>A	c.(1756-1758)CGG>CGA	p.R586R	MINK1_uc010vsk.1_Silent_p.R586R|MINK1_uc010vsm.1_Intron|MINK1_uc010vsn.1_Silent_p.R586R|MINK1_uc010vso.1_Silent_p.R531R|MINK1_uc010vsp.1_Silent_p.R76R	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	586					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						TGGCACACCGGGTCCCACTGA	0.657													A	4794768	G	A	4794768	2	1	86	1	0	0	0	0	0	0	0	1	9587	1219	43	4		4	MINK1	17	4794768	Silent	SNP	G	TCGA-BR-8380-01A-11D-2340-08	2591085	4794768	76400442	62	57265											
IMP5	162540	broad.mit.edu	37	chr17	43922979	43922979	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgcaggaagctgcagcagCtgagggagcccagaaggaag	17	9	0	2			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr17:43922979C>A	uc010wka.1	+	1	707	c.707C>A	c.(706-708)GCT>GAT	p.A236D	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	236	Cytoplasmic (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		GCTGCAGCAGCTGAGGGAGCC	0.642													A	43922979	C	A	43922979	3	1	86	1	0	0	0	0	1	0	0	0	7721	797	28	5	709	5	IMP5	17	43922979	Missense_Mutation	SNP	C	TCGA-BR-8380-01A-11D-2340-08	39128211	43922979	37272231	63	57266											
LRRC37A3	374819	broad.mit.edu	37	chr17	62857004	62857004	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagggctcctccggctcaAtaatcagctcagtgcttgtg	11	12	3	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr17:62857004A>G	uc002jey.2	-	11	3791	c.3260T>C	c.(3259-3261)ATT>ACT	p.I1087T	LRRC37A3_uc010wqg.1_Missense_Mutation_p.I205T|LRRC37A3_uc002jex.1_Missense_Mutation_p.I64T|LRRC37A3_uc010wqf.1_Missense_Mutation_p.I125T|LRRC37A3_uc010dek.1_Missense_Mutation_p.I93T	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1087	Extracellular (Potential).					integral to membrane					0						CTCCGGCTCAATAATCAGCTC	0.483													G	62857004	A	G	62857004	3	3	86	1	0	0	0	0	1	0	0	0	8993	101	4	3	1660	3	LRRC37A3	17	62857004	Missense_Mutation	SNP	A	TCGA-BR-8380-01A-11D-2340-08	18934025	62857004	18338206	64	57267											
SOX9	6662	broad.mit.edu	37	chr17	70119089	70119090	+	Frame_Shift_Ins	INS	-	-	GT													ctcctccggcatgagcgaggINStgcactcccccggcgagcac							TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr17:70119088_70119089G>GGT	uc002jiw.3	+	1	1032_1033	c.660_661G>GGT	c.(658-663)gaggtgfs	p.E220fs	AK094963_uc002jiv.3_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	220					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GCATGAGCGAGGTGCACTCCCC	0.698													GT	70119090	-	GT	70119089	7	5	86	1	0	1	1	0	0	0	0	0	14958	1261	44	0	667	0	SOX9	17	70119089	Frame_Shift_Ins	INS	-	TCGA-BR-8380-01A-11D-2340-08	7262085	70119089	11076121	65	57268											
SEPT9	10801	broad.mit.edu	37	chr17	75398336	75398336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccccaaggcgtccctgcGgagggtggagctctcgggcc	15	16	1	0			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr17:75398336G>A	uc002jts.3	+	3	398	c.272G>A	c.(271-273)CGG>CAG	p.R91Q	SEPT9_uc010wtk.1_Missense_Mutation_p.R72Q|SEPT9_uc002jtt.3_5'UTR|SEPT9_uc002jtu.3_Missense_Mutation_p.R73Q|SEPT9_uc002jtv.2_Missense_Mutation_p.R84Q|SEPT9_uc002jtw.2_5'UTR|SEPT9_uc002jtx.1_5'UTR|SEPT9_uc010wtl.1_5'Flank	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	septin 9 isoform a	91					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding			breast(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(99;0.153)			GCGTCCCTGCGGAGGGTGGAG	0.667													A	75398336	G	A	75398336	3	1	86	1	0	0	0	0	1	0	0	0	14071	1116	39	1	367	1	SEPT9	17	75398336	Missense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08	5279247	75398336	5796874	66	57269											
OR7D2	162998	broad.mit.edu	37	chr19	9297018	9297018	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgacgtacatcctccagctGgcctgctctgataccttcct	7	16	1	2			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr19:9297018G>T	uc002mkz.1	+	1	749	c.561G>T	c.(559-561)CTG>CTT	p.L187L		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D,	187	Extracellular (Potential).				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|upper_aerodigestive_tract(1)	3						TCCTCCAGCTGGCCTGCTCTG	0.433													T	9297018	G	T	9297018	2	4	86	1	0	0	0	0	0	0	0	1	11219	1335	47	5		5	OR7D2	19	9297018	Silent	SNP	G	TCGA-BR-8380-01A-11D-2340-08		9297018	49831965	67	57270											
GIPC1	10755	broad.mit.edu	37	chr19	14591450	14591450	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtccgtgatggtgagcccGagtgcatcctccgacttgaa	12	11	0	3			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr19:14591450G>A	uc002myt.2	-	5	699	c.429C>T	c.(427-429)CTC>CTT	p.L143L	GIPC1_uc002myu.2_Silent_p.L143L|GIPC1_uc002myv.2_Silent_p.L46L|GIPC1_uc002myw.2_Silent_p.L46L|GIPC1_uc002myx.2_Silent_p.L143L|GIPC1_uc002myy.2_Silent_p.L46L	NM_005716	NP_005707	O14908	GIPC1_HUMAN	regulator of G-protein signalling 19 interacting	143	PDZ.				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding				0						TGGTGAGCCCGAGTGCATCCT	0.657											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	14591450	G	A	14591450	2	1	86	1	0	0	0	0	0	0	0	1	6392	1045	37	1		1	GIPC1	19	14591450	Silent	SNP	G	TCGA-BR-8380-01A-11D-2340-08	5294432	14591450	44537533	68	57271											
NCAN	1463	broad.mit.edu	37	chr19	19329874	19329874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagcccgagatgcccctcGgataaagtggaccaaggtgc	13	13	0	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr19:19329874G>A	uc002nlz.2	+	3	323	c.224G>A	c.(223-225)CGG>CAG	p.R75Q		NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	75	Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			GATGCCCCTCGGATAAAGTGG	0.657													A	19329874	G	A	19329874	3	1	86	1	0	0	0	0	1	0	0	0	10204	1116	39	1	230	1	NCAN	19	19329874	Missense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08	4738424	19329874	39799109	69	57272											
ZNF14	7561	broad.mit.edu	37	chr19	19824904	19824904	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtggatgcaactcaccttcGatttttcccctggtttctgt	8	11	2	0			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr19:19824904G>A	uc002nnk.1	-	3	341	c.187C>T	c.(187-189)CGA>TGA	p.R63*		NM_021030	NP_066358	P17017	ZNF14_HUMAN	zinc finger protein 14	63	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Renal(1328;0.0474)				ACTCACCTTCGATTTTTCCCC	0.368													A	19824904	G	A	19824904	4	1	86	1	0	0	0	0	0	1	0	0	17725	1066	37	1	1749	1	ZNF14	19	19824904	Nonsense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08	495030	19824904	39304079	70	57273											
ZNF676	163223	broad.mit.edu	37	chr19	22363376	22363376	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatgaattgccttatgtgtAttaagggttgagaccttact	10	6	0	2			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr19:22363376A>C	uc002nqs.1	-	3	1461	c.1143T>G	c.(1141-1143)AAT>AAG	p.N381K		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	381	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CCTTATGTGTATTAAGGGTTG	0.393													C	22363376	A	C	22363376	3	2	86	1	0	0	0	0	1	0	0	0	18080	446	16	5	627	5	ZNF676	19	22363376	Missense_Mutation	SNP	A	TCGA-BR-8380-01A-11D-2340-08	2538472	22363376	36765607	71	57274											
FCGBP	8857	broad.mit.edu	37	chr19	40366308	40366308	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttggacacacattccccGcagccctgggccccgcccac	10	20	0	0			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr19:40366308G>A	uc002omp.3	-	30	13934	c.13926C>T	c.(13924-13926)TGC>TGT	p.C4642C		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4642	VWFD 11.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACATTCCCCGCAGCCCTGGG	0.697													A	40366308	G	A	40366308	2	1	86	1	0	0	0	0	0	0	0	1	5778	1079	38	1		1	FCGBP	19	40366308	Silent	SNP	G	TCGA-BR-8380-01A-11D-2340-08	18002932	40366308	18762675	72	57275											
CBLC	23624	broad.mit.edu	37	chr19	45296762	45296762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagacctgccccttctgccGctgcgagatcaagggctggg	13	15	2	2			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr19:45296762G>A	uc002ozs.2	+	8	1232	c.1169G>A	c.(1168-1170)CGC>CAC	p.R390H	CBLC_uc010ejt.2_Missense_Mutation_p.R344H	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Cas-Br-M (murine) ecotropic retroviral	390	RING-type.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|skin(1)	6	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CCCTTCTGCCGCTGCGAGATC	0.637			M		AML								A	45296762	G	A	45296762	3	1	86	1	0	0	0	0	1	0	0	0	2702	1087	38	1	1199	1	CBLC	19	45296762	Missense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08	4930454	45296762	13832221	73	57276											
POLD1	5424	broad.mit.edu	37	chr19	50912857	50912857	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctggcgctgaaggtgagCgccaactccgtatacggctt	13	12	0	2			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr19:50912857C>T	uc002psb.3	+	17	2144	c.2088C>T	c.(2086-2088)AGC>AGT	p.S696S	POLD1_uc002psc.3_Silent_p.S696S|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Silent_p.S722S	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	696					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TGAAGGTGAGCGCCAACTCCG	0.682								DNA_polymerases_(catalytic_subunits)					T	50912857	C	T	50912857	2	4	86	1	0	0	0	0	0	0	0	1	12190	767	27	1		1	POLD1	19	50912857	Silent	SNP	C	TCGA-BR-8380-01A-11D-2340-08	5616095	50912857	8216126	74	57277											
ZNF548	147694	broad.mit.edu	37	chr19	57909885	57909885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttacagcttcaaagccctGtctgtccagccagaaggtcc	10	13	2	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr19:57909885G>A	uc002qom.2	+	3	480	c.230G>A	c.(229-231)TGT>TAT	p.C77Y	ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.C80Y	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	77	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCAAAGCCCTGTCTGTCCAGC	0.512													A	57909885	G	A	57909885	3	1	86	1	0	0	0	0	1	0	0	0	17977	1377	48	4	280	4	ZNF548	19	57909885	Missense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08	6997028	57909885	1219098	75	57278											
ZCCHC3	85364	broad.mit.edu	37	chr20	279293	279293	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacgcaggacaggtgcttcAggtgcggggaggaggggcac	20	9	1	0			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr20:279293A>C	uc002wdf.2	+	2	1087	c.1063A>C	c.(1063-1065)AGG>CGG	p.R355R	ZCCHC3_uc002wdg.2_RNA	NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	356	CCHC-type 2.						nucleic acid binding|zinc ion binding				0		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGTGCTTCAGGTGCGGGGA	0.622													C	279293	A	C	279293	2	2	86	1	0	0	0	0	0	0	0	1	17586	179	7	5		5	ZCCHC3	20	279293	Silent	SNP	A	TCGA-BR-8380-01A-11D-2340-08		279293	62746227	76	57279											
C20orf195	79025	broad.mit.edu	37	chr20	62187885	62187885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagagggccgagacctccaCgctggtgtacgagccctgga	14	13	0	2			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr20:62187885C>T	uc002yfj.2	+	2	961	c.869C>T	c.(868-870)ACG>ATG	p.T290M	C20orf195_uc002yfk.2_Missense_Mutation_p.T290M	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	hypothetical protein LOC79025	290											0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GAGACCTCCACGCTGGTGTAC	0.627													T	62187885	C	T	62187885	3	4	86	1	0	0	0	0	1	0	0	0	2100	536	19	1	871	1	C20orf195	20	62187885	Missense_Mutation	SNP	C	TCGA-BR-8380-01A-11D-2340-08	61908592	62187885	837635	77	57280											
GAB4	128954	broad.mit.edu	37	chr22	17472781	17472781	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgctttcctcctgccTgaagccacagatctgacaga	8	14	1	4			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr22:17472781T>G	uc002zlw.2	-	2	568	c.460A>C	c.(460-462)AGG>CGG	p.R154R	GAB4_uc010gqs.1_Silent_p.R154R	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	154										large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCCTCCTGCCTGAAGCCACAG	0.562													G	17472781	T	G	17472781	2	3	86	1	0	0	0	0	0	0	0	1	6151	1579	55	5		5	GAB4	22	17472781	Silent	SNP	T	TCGA-BR-8380-01A-11D-2340-08		17472781	33831785	78	57281											
WNT7B	7477	broad.mit.edu	37	chr22	46318808	46318808	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcagcaccagtggaatttGcagttgcactgccacacctt	9	12	0	0			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chr22:46318808G>T	uc003bgo.2	-	4	1352	c.978C>A	c.(976-978)TGC>TGA	p.C326*	WNT7B_uc010haa.2_Nonsense_Mutation_p.C330*	NM_058238	NP_478679	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family,	326					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			lung(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		AGTGGAATTTGCAGTTGCACT	0.652													T	46318808	G	T	46318808	4	4	86	1	0	0	0	0	0	1	0	0	17392	1311	46	5	75	5	WNT7B	22	46318808	Nonsense_Mutation	SNP	G	TCGA-BR-8380-01A-11D-2340-08	28846027	46318808	4985758	79	57282											
FIGF	2277	broad.mit.edu	37	chrX	15402056	15402056	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacattcaccactacccActctctgtacattttgaata	3	12	2	1			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chrX:15402056A>T	uc004cwt.1	-	1	522	c.13T>A	c.(13-15)TGG>AGG	p.W5R		NM_004469	NP_004460	O43915	VEGFD_HUMAN	vascular endothelial growth factor D	5					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Hepatocellular(33;0.183)					ACCACTACCCACTCTCTGTAC	0.408													T	15402056	A	T	15402056	3	4	86	1	0	0	0	0	1	0	0	0	5889	159	6	5	1079	5	FIGF	23	15402056	Missense_Mutation	SNP	A	TCGA-BR-8380-01A-11D-2340-08		15402056	139868504	80	57283											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685743	125685743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccacaggtggaagtagccGtccaaggacaccgctcccag	11	14	0	0			TCGA-BR-8380-01A-11D-2340-08	TCGA-BR-8380-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ccfe725-1cd6-41cc-9bd1-7b055fd04e20	1e4e8e97-c2ad-46a8-a939-f10d2b189716	g.chrX:125685743G>A	uc004eul.2	-	1	1100	c.849C>T	c.(847-849)GAC>GAT	p.D283D		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	283	WD 3.									skin(3)|ovary(1)	4						GGAAGTAGCCGTCCAAGGACA	0.622													A	125685743	G	A	125685743	2	1	86	1	0	0	0	0	0	0	0	1	4264	1136	40	1		1	DCAF12L1	23	125685743	Silent	SNP	G	TCGA-BR-8380-01A-11D-2340-08	110283687	125685743	29584817	81	57284											
ARID1A	8289	broad.mit.edu	37	chr1	27107180	27107180	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctgttggacatctcggtatCaccgttgatgaactcattgg	11	9	3	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr1:27107180C>A	uc001bmv.1	+	20	7164	c.6791C>A	c.(6790-6792)TCA>TAA	p.S2264*	ARID1A_uc001bmu.1_Nonsense_Mutation_p.S2047*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.S1110*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.S592*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.S506*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2264					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.S2264*(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATCTCGGTATCACCGTTGATG	0.547			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								A	27107180	C	A	27107180	4	1	87	1	0	0	0	0	0	1	0	0	913	838	29	5	6869	5	ARID1A	1	27107180	Nonsense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08		27107180	222143441	1	57285											
LRRC7	57554	broad.mit.edu	37	chr1	70493942	70493942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaatttggtgggtaagcCaagccatggagtgcgtgttg	14	6	1	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr1:70493942C>T	uc001dep.2	+	16	1799	c.1769C>T	c.(1768-1770)CCA>CTA	p.P590L	LRRC7_uc009wbg.2_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	590						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						GTGGGTAAGCCAAGCCATGGA	0.403													T	70493942	C	T	70493942	3	4	87	1	0	0	0	0	1	0	0	0	9020	594	21	4	1831	4	LRRC7	1	70493942	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	43386762	70493942	178756679	2	57286											
LRRC7	57554	broad.mit.edu	37	chr1	70504683	70504683	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggccacaacaacaaaaagCttctatgacaaaaaaagtct	7	9	2	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr1:70504683C>A	uc001dep.2	+	19	3092	c.3062C>A	c.(3061-3063)GCT>GAT	p.A1021D	LRRC7_uc009wbg.2_Missense_Mutation_p.A305D|LRRC7_uc001deq.2_Missense_Mutation_p.A262D	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1021						centrosome|focal adhesion|nucleolus	protein binding	p.A1021S(1)		ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						CAACAAAAAGCTTCTATGACA	0.453													A	70504683	C	A	70504683	3	1	87	1	0	0	0	0	1	0	0	0	9020	797	28	5	3136	5	LRRC7	1	70504683	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	10741	70504683	178745938	3	57287											
TCHH	7062	broad.mit.edu	37	chr1	152084711	152084711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcctcctgctgctcgcGcctctcctgctgctcgcgcc	8	22	2	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr1:152084711G>A	uc001ezp.2	-	2	982	c.982C>T	c.(982-984)CGC>TGC	p.R328C	TCHH_uc009wne.1_Missense_Mutation_p.R328C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	328	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.|1-2; approximate.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgctgctcgcgcctctcctgc	0													A	152084711	G	A	152084711	3	1	87	1	0	0	0	0	1	0	0	0	15697	1087	38	1	4853	1	TCHH	1	152084711	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	81580028	152084711	97165910	4	57288											
FLG2	388698	broad.mit.edu	37	chr1	152327388	152327388	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatgttggccaaagccagaGgattgacctgagcctgacct	11	12	0	4			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr1:152327388G>T	uc001ezw.3	-	3	2947	c.2874C>A	c.(2872-2874)TCC>TCA	p.S958S	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	958	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAAAGCCAGAGGATTGACCTG	0.502													T	152327388	G	T	152327388	2	4	87	1	0	0	0	0	0	0	0	1	5923	987	35	5		5	FLG2	1	152327388	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08	242677	152327388	96923233	5	57289											
TDRD10	126668	broad.mit.edu	37	chr1	154516513	154516513	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcactcatccatagcgtccGtggggaggcggggctgctgg	18	11	1	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr1:154516513G>T	uc009wow.2	+	9	1416	c.578G>T	c.(577-579)CGT>CTT	p.R193L	TDRD10_uc001ffd.2_Missense_Mutation_p.R193L|TDRD10_uc001ffe.2_Missense_Mutation_p.R114L	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	tudor domain containing 10 isoform a	193							nucleotide binding|RNA binding			ovary(1)	1	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATAGCGTCCGTGGGGAGGCG	0.617													T	154516513	G	T	154516513	3	4	87	1	0	0	0	0	1	0	0	0	15728	1145	40	5	608	5	TDRD10	1	154516513	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	2189125	154516513	94734108	6	57290											
NOS1AP	9722	broad.mit.edu	37	chr1	162325084	162325084	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgtcctggaattcagcCgaggtgtgactgatctagat	12	7	2	4			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr1:162325084C>T	uc001gbv.2	+	7	1090	c.703C>T	c.(703-705)CGA>TGA	p.R235*	NOS1AP_uc010pkr.1_Nonsense_Mutation_p.R230*|NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Nonsense_Mutation_p.R230*	NM_014697	NP_055512	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor	235					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			lung(2)|upper_aerodigestive_tract(1)	3	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GGAATTCAGCCGAGGTGTGAC	0.577													T	162325084	C	T	162325084	4	4	87	1	0	0	0	0	0	1	0	0	10542	644	23	1	729	1	NOS1AP	1	162325084	Nonsense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	7808571	162325084	86925537	7	57291											
NFASC	23114	broad.mit.edu	37	chr1	204951064	204951064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagaccccagtctacgtgCcctatgagatccgagtccag	11	14	1	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr1:204951064C>T	uc001hbj.2	+	21	2714	c.2386C>T	c.(2386-2388)CCC>TCC	p.P796S	NFASC_uc010pra.1_Missense_Mutation_p.P792S|NFASC_uc001hbi.2_Missense_Mutation_p.P792S|NFASC_uc010prb.1_Missense_Mutation_p.P807S|NFASC_uc010prc.1_Missense_Mutation_p.P363S|NFASC_uc001hbk.1_Missense_Mutation_p.P602S|NFASC_uc001hbl.1_Missense_Mutation_p.P46S	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	796	Extracellular (Potential).|Fibronectin type-III 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGTCTACGTGCCCTATGAGAT	0.577													T	204951064	C	T	204951064	3	4	87	1	0	0	0	0	1	0	0	0	10359	739	26	2	2544	2	NFASC	1	204951064	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	42625980	204951064	44299557	8	57292											
KCNH1	3756	broad.mit.edu	37	chr1	211192417	211192417	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacaaccagccaggccacaTtattctgcctggttttgaag	8	12	1	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr1:211192417T>C	uc001hib.2	-	6	910	c.740A>G	c.(739-741)AAT>AGT	p.N247S	KCNH1_uc001hic.2_Missense_Mutation_p.N247S	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	247	Extracellular (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCAGGCCACATTATTCTGCCT	0.443													C	211192417	T	C	211192417	3	2	87	1	0	0	0	0	1	0	0	0	8031	1493	52	3	2253	3	KCNH1	1	211192417	Missense_Mutation	SNP	T	TCGA-BR-8381-01A-11D-2394-08	6241353	211192417	38058204	9	57293											
USH2A	7399	broad.mit.edu	37	chr1	215963510	215963537	+	Frame_Shift_Del	DEL	CATTTTACTGGCACCGGGTCATTCTTTT	CATTTTACTGGCACCGGGTCATTCTTTT	-													gaataagttcagtctcacagCattttactggcaccgggtca					rs147842359	byFrequency	TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr1:215963509_215963536GCATTTTACTGGCACCGGGTCATTCTTTT>G	uc001hku.1	-	50	10434_10461	c.10047_10074AAAAGAATGACCCGGTGCCAGTAAAATGC>C	c.(10045-10074)aaaaagaatgacccggtgccagtaaaatgcfs	p.K3349fs		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3349					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P3353Q(2)|p.D3352N(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGTCTCACAGCATTTTACTGGCACCGGGTCATTCTTTTTAATATGTG	0.39										HNSCC(13;0.011)			-	215963537	CATTTTACTGGCACCGGGTCATTCTTTT	-	215963510	7	5	87	1	0	1	0	1	0	0	0	0	17033	710	25	0	5623	0	USH2A	1	215963510	Frame_Shift_Del	DEL	CATTTTACTGGCACCGGGTCATTCTTTT	TCGA-BR-8381-01A-11D-2394-08	4771093	215963510	33287111	10	57294											
DISP1	84976	broad.mit.edu	37	chr1	223179252	223179252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaaacatggaagccaatGtgcctgctgtattaacacac	8	11	0	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr1:223179252G>A	uc001hnu.1	+	8	4660	c.4513G>A	c.(4513-4515)GTG>ATG	p.V1505M		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	1505					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		GGAAGCCAATGTGCCTGCTGT	0.388													A	223179252	G	A	223179252	3	1	87	1	0	0	0	0	1	0	0	0	4539	1377	48	4	4539	4	DISP1	1	223179252	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	7215742	223179252	26071369	11	57295											
CHML	1122	broad.mit.edu	37	chr1	241798733	241798733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcaccaatctcttcaacGttgtcctccatatcctgact	5	14	2	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr1:241798733G>A	uc001hzd.2	-	1	500	c.336C>T	c.(334-336)AAC>AAT	p.N112N	OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	choroideremia-like Rab escort protein 2	112					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(4)|skin(2)	6	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TCTCTTCAACGTTGTCCTCCA	0.428													A	241798733	G	A	241798733	2	1	87	1	0	0	0	0	0	0	0	1	3351	1136	40	1		1	CHML	1	241798733	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08	18619481	241798733	7451888	12	57296											
SLC30A3	7781	broad.mit.edu	37	chr2	27481713	27481713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaggggtaaggcccggcGgcggaagggggtccctgtgg	20	10	1	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr2:27481713G>A	uc002rjk.2	-	2	371	c.185C>T	c.(184-186)CCG>CTG	p.P62L	SLC30A3_uc002rjj.2_5'Flank|SLC30A3_uc010ylh.1_Missense_Mutation_p.P57L	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter),	62	Cytoplasmic (Potential).				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGCCCGGCGGCGGAAGGGG	0.617													A	27481713	G	A	27481713	3	1	87	1	0	0	0	0	1	0	0	0	14556	1116	39	1	1009	1	SLC30A3	2	27481713	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08		27481713	215717660	13	57297											
FSHR	2492	broad.mit.edu	37	chr2	49195873	49195873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaaaggcacagcaatggCtgggataggtgaggctggct	16	7	0	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr2:49195873C>T	uc002rww.2	-	9	892	c.818G>A	c.(817-819)AGC>AAC	p.S273N	FSHR_uc002rwx.2_Intron|FSHR_uc010fbn.2_Missense_Mutation_p.S247N	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	273	Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	ACAGCAATGGCTGGGATAGGT	0.483									Gonadal_Dysgenesis_46_XX				T	49195873	C	T	49195873	3	4	87	1	0	0	0	0	1	0	0	0	6073	797	28	2	1277	2	FSHR	2	49195873	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	21714160	49195873	194003500	14	57298											
ANAPC1	64682	broad.mit.edu	37	chr2	112566679	112566679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgtgaatgctaagaagcCgagtaatagacatatccatg	10	6	0	3			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr2:112566679C>T	uc002thi.2	-	29	3924	c.3677G>A	c.(3676-3678)CGG>CAG	p.R1226Q		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1226					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				skin(2)	2						GCTAAGAAGCCGAGTAATAGA	0.463													T	112566679	C	T	112566679	3	4	87	1	0	0	0	0	1	0	0	0	598	652	23	1	2237	1	ANAPC1	2	112566679	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	63370806	112566679	130632694	15	57299											
FBLN7	129804	broad.mit.edu	37	chr2	112940369	112940369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcacttctgtctgcagaCgtgaacgagtgtgagctcta	12	9	3	4	rs147423265	byFrequency	TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr2:112940369C>T	uc002tho.1	+	6	943	c.672C>T	c.(670-672)GAC>GAT	p.D224D	FBLN7_uc002thn.2_Silent_p.D224D|FBLN7_uc010fki.1_Silent_p.D178D|FBLN7_uc010fkj.1_Intron	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	fibulin 7 isoform 1	224	EGF-like 2; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			ovary(1)|central_nervous_system(1)	2						TGTCTGCAGACGTGAACGAGT	0.607													T	112940369	C	T	112940369	2	4	87	1	0	0	0	0	0	0	0	1	5701	550	19	1		1	FBLN7	2	112940369	Silent	SNP	C	TCGA-BR-8381-01A-11D-2394-08	373690	112940369	130259004	16	57300											
WDSUB1	151525	broad.mit.edu	37	chr2	160128292	160128292	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccactcagtgtacttttatAttttaattcaaaacctgcaa	3	10	2	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr2:160128292A>G	uc002uaj.3	-	5	840	c.691T>C	c.(691-693)TAT>CAT	p.Y231H	WDSUB1_uc002uak.3_Missense_Mutation_p.Y231H|WDSUB1_uc002ual.3_Missense_Mutation_p.Y231H|WDSUB1_uc002uam.3_Missense_Mutation_p.Y231H|WDSUB1_uc010foo.2_Intron	NM_152528	NP_689741	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain	231						ubiquitin ligase complex	ubiquitin-protein ligase activity				0						GTACTTTTATATTTTAATTCA	0.363													G	160128292	A	G	160128292	3	3	87	1	0	0	0	0	1	0	0	0	17338	449	16	3	767	3	WDSUB1	2	160128292	Missense_Mutation	SNP	A	TCGA-BR-8381-01A-11D-2394-08	47187923	160128292	83071081	17	57301											
ZDBF2	57683	broad.mit.edu	37	chr2	207170039	207170039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcaaataggaaatctttaCgcatgaattcagataagttg	7	5	3	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr2:207170039C>T	uc002vbp.2	+	5	1037	c.787C>T	c.(787-789)CGC>TGC	p.R263C		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	263							nucleic acid binding|zinc ion binding			ovary(3)	3						GAAATCTTTACGCATGAATTC	0.388													T	207170039	C	T	207170039	3	4	87	1	0	0	0	0	1	0	0	0	17596	536	19	1	797	1	ZDBF2	2	207170039	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	47041747	207170039	36029334	18	57302											
ADAM23	8745	broad.mit.edu	37	chr2	207413054	207413054	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctctctgaattacagtggttGaaaagaaggaagagagcagt	12	5	1	4			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr2:207413054G>A	uc002vbq.2	+	8	1066	c.843G>A	c.(841-843)TTG>TTA	p.L281L	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	281					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TACAGTGGTTGAAAAGAAGGA	0.413													A	207413054	G	A	207413054	2	1	87	1	0	0	0	0	0	0	0	1	245	1281	45	4		4	ADAM23	2	207413054	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08	243015	207413054	35786319	19	57303											
CNTN4	152330	broad.mit.edu	37	chr3	2613203	2613203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaagatgaggttgccatggGaactgctggtactgcaatca	13	7	1	3			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr3:2613203G>A	uc003bpc.2	+	3	237	c.16G>A	c.(16-18)GAA>AAA	p.E6K	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.E6K	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	6					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTTGCCATGGGAACTGCTGGT	0.368													A	2613203	G	A	2613203	3	1	87	1	0	0	0	0	1	0	0	0	3643	1175	41	4	18	4	CNTN4	3	2613203	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08		2613203	195409227	20	57304											
NUP210	23225	broad.mit.edu	37	chr3	13395089	13395089	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggcagagctgaggtgggactCctggtagccagtggcagtgg	19	8	0	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr3:13395089C>G	uc003bxv.1	-	18	2676	c.2593G>C	c.(2593-2595)GAG>CAG	p.E865Q	NUP210_uc003bxw.2_Missense_Mutation_p.E41Q|NUP210_uc003bxx.2_Missense_Mutation_p.E537Q	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	865	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					AGGTGGGACTCCTGGTAGCCA	0.587													G	13395089	C	G	13395089	3	3	87	1	0	0	0	0	1	0	0	0	10760	864	30	5	3162	5	NUP210	3	13395089	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	10781886	13395089	184627341	21	57305											
NEK10	152110	broad.mit.edu	37	chr3	27152780	27152780	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttcatcttttggttgggtGattcttggtcccccatggat	10	8	3	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr3:27152780G>A	uc010hfk.2	-	17	1667	c.1438C>T	c.(1438-1440)CAC>TAC	p.H480Y	NEK10_uc010hfj.2_Missense_Mutation_p.H423Y			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	1168							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						TTGGTTGGGTGATTCTTGGTC	0.373													A	27152780	G	A	27152780	3	1	87	1	0	0	0	0	1	0	0	0	10322	1305	45	4		4	NEK10	3	27152780	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	13757691	27152780	170869650	22	57306											
DCLK3	85443	broad.mit.edu	37	chr3	36779379	36779379	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtccttcttcacctcccTcagcccctcctctgtgacag	7	18	4	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr3:36779379T>G	uc003cgi.2	-	2	1263	c.772A>C	c.(772-774)AGG>CGG	p.R258R		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	258						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						TTCACCTCCCTCAGCCCCTCC	0.597													G	36779379	T	G	36779379	2	3	87	1	0	0	0	0	0	0	0	1	4293	1550	54	5		5	DCLK3	3	36779379	Silent	SNP	T	TCGA-BR-8381-01A-11D-2394-08	9626599	36779379	161243051	23	57307											
PIK3CA	5290	broad.mit.edu	37	chr3	178916639	178916639	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacgaccatcatcaggtgAactgtggggcatccacttga	10	12	2	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr3:178916639A>G	uc003fjk.2	+	2	183	c.26A>G	c.(25-27)GAA>GGA	p.E9G		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	9					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E9_R19del(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCATCAGGTGAACTGTGGGGC	0.403		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178916639	A	G	178916639	3	3	87	1	0	0	0	0	1	0	0	0	11913	246	9	3	28	3	PIK3CA	3	178916639	Missense_Mutation	SNP	A	TCGA-BR-8381-01A-11D-2394-08	142137260	178916639	19105791	24	57308											
MCF2L2	23101	broad.mit.edu	37	chr3	182925454	182925454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctggtccccaggctccattCgtatcttacagaacactatt	6	14	1	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr3:182925454C>T	uc003fli.1	-	23	2744	c.2654G>A	c.(2653-2655)CGA>CAA	p.R885Q		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	885	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AGGCTCCATTCGTATCTTACA	0.433													T	182925454	C	T	182925454	3	4	87	1	0	0	0	0	1	0	0	0	9380	884	31	1	722	1	MCF2L2	3	182925454	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	4008815	182925454	15096976	25	57309											
PPARGC1A	10891	broad.mit.edu	37	chr4	23803389	23803389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacttgaaaaattgcttgcGtccacaaaagtacagctcaa	7	9	1	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr4:23803389G>A	uc003gqs.2	-	12	2377	c.2257C>T	c.(2257-2259)CGC>TGC	p.R753C	PPARGC1A_uc003gqt.2_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	753	RRM.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				AATTGCTTGCGTCCACAAAAG	0.403													A	23803389	G	A	23803389	3	1	87	1	0	0	0	0	1	0	0	0	12300	1145	40	1	147	1	PPARGC1A	4	23803389	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08		23803389	167350887	26	57310											
LPHN3	23284	broad.mit.edu	37	chr4	62903554	62903554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttctcgaactcctggaCgctactccacaggctcacag	9	15	2	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr4:62903554C>T	uc010ihh.2	+	21	3666	c.3493C>T	c.(3493-3495)CGC>TGC	p.R1165C	LPHN3_uc003hcq.3_Missense_Mutation_p.R1165C|LPHN3_uc003hct.2_Missense_Mutation_p.R549C	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	1143	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						AACTCCTGGACGCTACTCCAC	0.408													T	62903554	C	T	62903554	3	4	87	1	0	0	0	0	1	0	0	0	8917	536	19	1	3575	1	LPHN3	4	62903554	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	39100165	62903554	128250722	27	57311											
TECRL	253017	broad.mit.edu	37	chr4	65188413	65188413	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaattaacacttactgtggtCcaactgacttgttgacctag	7	9	0	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr4:65188413C>T	uc003hcv.2	-	4	538	c.429G>A	c.(427-429)TGG>TGA	p.W143*	TECRL_uc003hcw.2_Nonsense_Mutation_p.W143*	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	143	Helical; (Potential).				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0						TTACTGTGGTCCAACTGACTT	0.343													T	65188413	C	T	65188413	4	4	87	1	0	0	0	0	0	1	0	0	15743	856	30	4	698	4	TECRL	4	65188413	Nonsense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	2284859	65188413	125965863	28	57312											
PRDM9	56979	broad.mit.edu	37	chr5	23527567	23527567	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctttagagataagtcaaaCctcctcagtcaccagaggac	9	11	3	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr5:23527567C>A	uc003jgo.2	+	11	2552	c.2370C>A	c.(2368-2370)AAC>AAA	p.N790K		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	790	C2H2-type 11.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						ATAAGTCAAACCTCCTCAGTC	0.557										HNSCC(3;0.000094)			A	23527567	C	A	23527567	3	1	87	1	0	0	0	0	1	0	0	0	12463	506	18	5	2408	5	PRDM9	5	23527567	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08		23527567	157387693	29	57313											
RXFP3	51289	broad.mit.edu	37	chr5	33937051	33937051	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggacatcccccgggcagcgGcggggcagagagcgcggaca	18	13	0	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr5:33937051G>T	uc003jic.1	+	1	563	c.206G>T	c.(205-207)GGC>GTC	p.G69V		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	69	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						CCGGGCAGCGGCGGGGCAGAG	0.692													T	33937051	G	T	33937051	3	4	87	1	0	0	0	0	1	0	0	0	13761	1203	42	5	208	5	RXFP3	5	33937051	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	10409484	33937051	146978209	30	57314											
OXCT1	5019	broad.mit.edu	37	chr5	41762218	41762218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagtacatgttacctttgCagaatgctccatggtgacca	8	11	0	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr5:41762218C>T	uc003jmn.2	-	14	1664	c.1333G>A	c.(1333-1335)GCA>ACA	p.A445T	OXCT1_uc011cpo.1_Missense_Mutation_p.A48T|OXCT1_uc011cpp.1_Missense_Mutation_p.A48T	NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	445					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)	GTTACCTTTGCAGAATGCTCC	0.428													T	41762218	C	T	41762218	3	4	87	1	0	0	0	0	1	0	0	0	11329	710	25	2	245	2	OXCT1	5	41762218	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	7825167	41762218	139153042	31	57315											
MCTP1	79772	broad.mit.edu	37	chr5	94224655	94224655	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcccacatctttcaggTtgtgaaatatcctcaatggg	8	9	3	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr5:94224655T>C	uc003kkx.2	-	12	1862	c.1862A>G	c.(1861-1863)AAC>AGC	p.N621S	MCTP1_uc003kkv.2_Missense_Mutation_p.N400S|MCTP1_uc003kkw.2_Missense_Mutation_p.N354S|MCTP1_uc003kkz.2_Missense_Mutation_p.N282S|MCTP1_uc003kku.2_Missense_Mutation_p.N137S	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	621	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		ATCTTTCAGGTTGTGAAATAT	0.443													C	94224655	T	C	94224655	3	2	87	1	0	0	0	0	1	0	0	0	9400	1725	60	3	1185	3	MCTP1	5	94224655	Missense_Mutation	SNP	T	TCGA-BR-8381-01A-11D-2394-08	52462437	94224655	86690605	32	57316											
PCDHB4	56131	broad.mit.edu	37	chr5	140501880	140501880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtggtcctattgaaccGtgtgtactgcatttccaagt	9	10	1	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr5:140501880G>A	uc003lip.1	+	1	300	c.300G>A	c.(298-300)CCG>CCA	p.P100P		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	100	Cadherin 1.|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)			CTATTGAACCGTGTGTACTGC	0.463													A	140501880	G	A	140501880	2	1	87	1	0	0	0	0	0	0	0	1	11544	1132	40	1		1	PCDHB4	5	140501880	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08	46277225	140501880	40413380	33	57317											
MED7	9443	broad.mit.edu	37	chr5	156565878	156565878	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgctatcatcagcatccaTtggttcagtttttactctca	6	10	4	0	rs138235255		TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr5:156565878T>C	uc010jik.2	-	2	957	c.565A>G	c.(565-567)ATG>GTG	p.M189V	MED7_uc003lwm.3_Missense_Mutation_p.M189V	NM_001100816	NP_001094286	O43513	MED7_HUMAN	mediator complex subunit 7	189					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity				0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCAGCATCCATTGGTTCAGTT	0.393													C	156565878	T	C	156565878	3	2	87	1	0	0	0	0	1	0	0	0	9452	1493	52	3	140	3	MED7	5	156565878	Missense_Mutation	SNP	T	TCGA-BR-8381-01A-11D-2394-08	16063998	156565878	24349382	34	57318											
GABRA1	2554	broad.mit.edu	37	chr5	161317942	161317942	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactcatttccacttgaagAgaaagattggctactttgtt	7	9	1	3			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr5:161317942A>G	uc010jiw.2	+	9	1210	c.742A>G	c.(742-744)AGA>GGA	p.R248G	GABRA1_uc010jix.2_Missense_Mutation_p.R248G|GABRA1_uc010jiy.2_Missense_Mutation_p.R248G|GABRA1_uc003lyx.3_Missense_Mutation_p.R248G|GABRA1_uc010jiz.2_Missense_Mutation_p.R248G|GABRA1_uc010jja.2_Missense_Mutation_p.R248G|GABRA1_uc010jjb.2_Missense_Mutation_p.R248G	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	248	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CCACTTGAAGAGAAAGATTGG	0.388													G	161317942	A	G	161317942	3	3	87	1	0	0	0	0	1	0	0	0	6160	296	11	3	768	3	GABRA1	5	161317942	Missense_Mutation	SNP	A	TCGA-BR-8381-01A-11D-2394-08	4752064	161317942	19597318	35	57319											
FGFR4	2264	broad.mit.edu	37	chr5	176523169	176523169	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accacattgactactataagAaaaccagcaacgtgagggag	9	9	0	3			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr5:176523169A>G	uc003mfl.2	+	14	2100	c.1933A>G	c.(1933-1935)AAA>GAA	p.K645E	FGFR4_uc003mfm.2_Missense_Mutation_p.K645E|FGFR4_uc011dfu.1_Missense_Mutation_p.K577E|FGFR4_uc003mfo.2_Missense_Mutation_p.K605E	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	645	Protein kinase.|Cytoplasmic (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CTACTATAAGAAAACCAGCAA	0.607										TSP Lung(9;0.080)			G	176523169	A	G	176523169	3	3	87	1	0	0	0	0	1	0	0	0	5868	247	9	3	2053	3	FGFR4	5	176523169	Missense_Mutation	SNP	A	TCGA-BR-8381-01A-11D-2394-08	15205227	176523169	4392091	36	57320											
OR2B2	81697	broad.mit.edu	37	chr6	27879418	27879418	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaccttcagcagactggattCtcaacactgcttggacaata	8	11	2	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr6:27879418C>T	uc011dkw.1	-	1	680	c.680G>A	c.(679-681)AGA>AAA	p.R227K		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGACTGGATTCTCAACACTGC	0.428													T	27879418	C	T	27879418	3	4	87	1	0	0	0	0	1	0	0	0	10989	913	32	4	397	4	OR2B2	6	27879418	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08		27879418	143235649	37	57321											
ZNF311	282890	broad.mit.edu	37	chr6	28963041	28963041	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actgcaggtgtatggcttctCaccagtgtggattcttttgt	11	8	2	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr6:28963041C>T	uc003nlu.2	-	7	2251	c.1738G>A	c.(1738-1740)GAG>AAG	p.E580K	ZNF311_uc011dlk.1_Missense_Mutation_p.E488K|ZNF311_uc003nlv.2_Missense_Mutation_p.E488K	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						TATGGCTTCTCACCAGTGTGG	0.488													T	28963041	C	T	28963041	3	4	87	1	0	0	0	0	1	0	0	0	17831	835	29	4	266	4	ZNF311	6	28963041	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	1083623	28963041	142152026	38	57322											
DNAH8	1769	broad.mit.edu	37	chr6	38810483	38810483	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagattggcaagctttttTggatctcaaaaagagaattg	9	4	1	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr6:38810483T>G	uc003ooe.1	+	33	4598	c.3998T>G	c.(3997-3999)TTG>TGG	p.L1333W		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CAAGCTTTTTTGGATCTCAAA	0.368													G	38810483	T	G	38810483	3	3	87	1	0	0	0	0	1	0	0	0	4607	1821	63	5	4120	5	DNAH8	6	38810483	Missense_Mutation	SNP	T	TCGA-BR-8381-01A-11D-2394-08	9847442	38810483	132304584	39	57323											
RRAGD	58528	broad.mit.edu	37	chr6	90097256	90097256	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgcttctcctcaggcccaTgagcaggattctcggcttca	10	15	4	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr6:90097256T>C	uc003pnd.3	-	2	485	c.202A>G	c.(202-204)ATG>GTG	p.M68V	RRAGD_uc010kcc.2_Intron	NM_021244	NP_067067	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	68					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			ovary(2)|central_nervous_system(1)	3		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CTCAGGCCCATGAGCAGGATT	0.458													C	90097256	T	C	90097256	3	2	87	1	0	0	0	0	1	0	0	0	13675	1464	51	3	1024	3	RRAGD	6	90097256	Missense_Mutation	SNP	T	TCGA-BR-8381-01A-11D-2394-08	51286773	90097256	81017811	40	57324											
MDN1	23195	broad.mit.edu	37	chr6	90428148	90428148	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagcaataacactgcttctaGtttgttgacaatctccatcg	6	10	2	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr6:90428148G>C	uc003pnn.1	-	43	6636	c.6520C>G	c.(6520-6522)CTA>GTA	p.L2174V		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2174					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACTGCTTCTAGTTTGTTGACA	0.408													C	90428148	G	C	90428148	3	2	87	1	0	0	0	0	1	0	0	0	9415	1020	36	5	10510	5	MDN1	6	90428148	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	330892	90428148	80686919	41	57325											
GPR6	2830	broad.mit.edu	37	chr6	110300581	110300581	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggacagtgatcgctggagAaaacgcgctggtggtggcgc	19	8	0	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr6:110300581A>G	uc011eaw.1	+	2	446	c.266A>G	c.(265-267)GAA>GGA	p.E89G	GPR6_uc011eav.1_Missense_Mutation_p.E104G|GPR6_uc003ptu.2_Missense_Mutation_p.E89G	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	89	Helical; Name=1; (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ATCGCTGGAGAAAACGCGCTG	0.687													G	110300581	A	G	110300581	3	3	87	1	0	0	0	0	1	0	0	0	6701	246	9	3	268	3	GPR6	6	110300581	Missense_Mutation	SNP	A	TCGA-BR-8381-01A-11D-2394-08	19872433	110300581	60814486	42	57326											
ENPP1	5167	broad.mit.edu	37	chr6	132176074	132176074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcattacccaggtttgaaaCgcctcctaccctcttatttt	4	13	2	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr6:132176074C>T	uc011ecf.1	+	6	646	c.626C>T	c.(625-627)ACG>ATG	p.T209M		NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	209	Phosphodiesterase.|Extracellular (Potential).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AGGTTTGAAACGCCTCCTACC	0.393													T	132176074	C	T	132176074	3	4	87	1	0	0	0	0	1	0	0	0	5129	536	19	1	648	1	ENPP1	6	132176074	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	21875493	132176074	38938993	43	57327											
UTRN	7402	broad.mit.edu	37	chr6	145119080	145119080	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagcggagactgcaaaacatCaggccaaatgcaacatctgt	9	11	2	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr6:145119080C>A	uc003qkt.2	+	63	9291	c.9199C>A	c.(9199-9201)CAG>AAG	p.Q3067K		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	3067	Interaction with SYNM.|ZZ-type.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGCAAAACATCAGGCCAAATG	0.458													A	145119080	C	A	145119080	3	1	87	1	0	0	0	0	1	0	0	0	17100	827	29	5	9449	5	UTRN	6	145119080	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	12943006	145119080	25995987	44	57328											
PRKAR1B	5575	broad.mit.edu	37	chr7	635929	635929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgttggtcacccactctcCgttcacgtacacctttgggg	10	13	3	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr7:635929C>T	uc003siu.1	-	8	668	c.562G>A	c.(562-564)GGA>AGA	p.G188R	PRKAR1B_uc003siv.2_Missense_Mutation_p.G188R|PRKAR1B_uc003siw.1_Missense_Mutation_p.G188R|PRKAR1B_uc003six.1_RNA	NM_002735	NP_002726	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type	188	cAMP 1.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity				0		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		ACCCACTCTCCGTTCACGTAC	0.612													T	635929	C	T	635929	3	4	87	1	0	0	0	0	1	0	0	0	12504	661	23	1	603	1	PRKAR1B	7	635929	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08		635929	158502734	45	57329											
EIF3B	8662	broad.mit.edu	37	chr7	2402282	2402282	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggccctctctcactcaggtAtattttcctggagtacgcgt	9	13	3	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr7:2402282A>G	uc003slx.2	+	3	778	c.695A>G	c.(694-696)TAT>TGT	p.Y232C	EIF3B_uc003sly.2_Missense_Mutation_p.Y232C|EIF3B_uc003slz.1_Missense_Mutation_p.Y193C|EIF3B_uc003sma.2_5'UTR	NM_003751	NP_003742	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3,	232	Sufficient for interaction with EIF3E.|RRM.|Sufficient for interaction with EIF3J.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity				0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		TCACTCAGGTATATTTTCCTG	0.463													G	2402282	A	G	2402282	3	3	87	1	0	0	0	0	1	0	0	0	5013	449	16	3	705	3	EIF3B	7	2402282	Missense_Mutation	SNP	A	TCGA-BR-8381-01A-11D-2394-08	1766353	2402282	156736381	46	57330											
RAPGEF5	9771	broad.mit.edu	37	chr7	22197496	22197496	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttttgtggtgaatattcatCtacagtgctgaaaggaaaaa	9	4	2	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr7:22197496C>T	uc003svg.2	-	15	1388	c.1075G>A	c.(1075-1077)GAT>AAT	p.D359N	RAPGEF5_uc011jyl.1_Missense_Mutation_p.D40N	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	209					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			ovary(1)	1						GAATATTCATCTACAGTGCTG	0.413													T	22197496	C	T	22197496	3	4	87	1	0	0	0	0	1	0	0	0	13047	913	32	4	1165	4	RAPGEF5	7	22197496	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	19795214	22197496	136941167	47	57331											
CREB5	9586	broad.mit.edu	37	chr7	28857755	28857755	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgttaacacataaagactGcccaataacagccatgcaga	7	10	0	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr7:28857755G>T	uc003szq.2	+	10	1712	c.1322G>T	c.(1321-1323)TGC>TTC	p.C441F	CREB5_uc003szo.2_Missense_Mutation_p.C408F|CREB5_uc003szr.2_Missense_Mutation_p.C434F|CREB5_uc003szs.2_Missense_Mutation_p.C302F	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	441					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						CATAAAGACTGCCCAATAACA	0.358													T	28857755	G	T	28857755	3	4	87	1	0	0	0	0	1	0	0	0	3860	1319	46	5	1411	5	CREB5	7	28857755	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	6660259	28857755	130280908	48	57332											
CAV1	857	broad.mit.edu	37	chr7	116166604	116166604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctacaccgttcccatccGggaacagggcaacatctaca	7	15	2	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr7:116166604G>A	uc003vif.1	+	2	334	c.56G>A	c.(55-57)CGG>CAG	p.R19Q	CAV1_uc010lkd.1_5'UTR|CAV1_uc010lke.1_5'UTR|CAV1_uc003vig.1_RNA|CAV1_uc003vih.2_5'UTR|CAV1_uc010lkf.1_5'UTR	NM_001753	NP_001744	Q03135	CAV1_HUMAN	caveolin 1	19	Cytoplasmic (Potential).				blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization	apical plasma membrane|basolateral plasma membrane|caveola|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm	cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding				0	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			GTTCCCATCCGGGAACAGGGC	0.602											OREG0018273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	116166604	G	A	116166604	3	1	87	1	0	0	0	0	1	0	0	0	2693	1116	39	1	62	1	CAV1	7	116166604	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	87308849	116166604	42972059	49	57333											
ANKRD7	56311	broad.mit.edu	37	chr7	117876121	117876121	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatactccactattagttgcCgttattaacaataatccaaa	3	9	0	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr7:117876121C>T	uc003vji.2	+	4	668	c.495C>T	c.(493-495)GCC>GCT	p.A165A		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	165	ANK 4.				male gonad development						0						TATTAGTTGCCGTTATTAACA	0.259													T	117876121	C	T	117876121	2	4	87	1	0	0	0	0	0	0	0	1	686	639	23	1		1	ANKRD7	7	117876121	Silent	SNP	C	TCGA-BR-8381-01A-11D-2394-08	1709517	117876121	41262542	50	57334											
CPA4	51200	broad.mit.edu	37	chr7	129962450	129962450	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagctaaccagatcatcccCactgcagaggagacgtggct	10	14	1	3			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr7:129962450C>G	uc003vpr.2	+	11	1247	c.1200C>G	c.(1198-1200)CCC>CCG	p.P400P	CPA4_uc011kpd.1_Silent_p.P367P|CPA4_uc011kpe.1_Silent_p.P296P	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4 preproprotein	400					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					AGATCATCCCCACTGCAGAGG	0.512													G	129962450	C	G	129962450	2	3	87	1	0	0	0	0	0	0	0	1	3792	581	21	5		5	CPA4	7	129962450	Silent	SNP	C	TCGA-BR-8381-01A-11D-2394-08	12086329	129962450	29176213	51	57335											
EXOC4	60412	broad.mit.edu	37	chr7	132990651	132990651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcagcagttgagtctttGgagggccccctgctccaggt	14	11	2	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr7:132990651G>A	uc003vrk.2	+	4	527	c.492G>A	c.(490-492)TTG>TTA	p.L164L	EXOC4_uc011kpo.1_Silent_p.L63L|EXOC4_uc003vri.2_Silent_p.L164L|EXOC4_uc003vrj.2_Silent_p.L164L	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	164					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				TTGAGTCTTTGGAGGGCCCCC	0.408													A	132990651	G	A	132990651	2	1	87	1	0	0	0	0	0	0	0	1	5306	1339	47	4		4	EXOC4	7	132990651	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08	3028201	132990651	26148012	52	57336											
CHPF2	54480	broad.mit.edu	37	chr7	150932532	150932532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgcaggcgagcaggcccGgtactgtcatgggggctttg	18	10	1	0	rs148527739		TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr7:150932532G>A	uc003wjr.1	+	2	2175	c.662G>A	c.(661-663)CGG>CAG	p.R221Q	CHPF2_uc003wjq.1_Missense_Mutation_p.R213Q|MIR671_hsa-mir-671|MI0003760_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	221	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1						GAGCAGGCCCGGTACTGTCAT	0.632													A	150932532	G	A	150932532	3	1	87	1	0	0	0	0	1	0	0	0	3369	1116	39	1	668	1	CHPF2	7	150932532	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	17941881	150932532	8206131	53	57337											
MSR1	4481	broad.mit.edu	37	chr8	15978038	15978038	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcgtcacaaattgtaccccActggccgctgtggagtatct	9	12	2	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr8:15978038A>T	uc003wwz.2	-	9	1309	c.1111T>A	c.(1111-1113)TGG>AGG	p.W371R	MSR1_uc010lsu.2_Missense_Mutation_p.W389R|MSR1_uc003wxa.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	371	SRCR.|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)		ATTGTACCCCACTGGCCGCTG	0.537													T	15978038	A	T	15978038	3	4	87	1	0	0	0	0	1	0	0	0	9886	159	6	5	252	5	MSR1	8	15978038	Missense_Mutation	SNP	A	TCGA-BR-8381-01A-11D-2394-08		15978038	130385984	54	57338											
SNTG1	54212	broad.mit.edu	37	chr8	51449257	51449257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacacattatcatgctcgtCgtggccgacgtctccaggct	11	13	2	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr8:51449257C>T	uc010lxy.1	+	12	940	c.569C>T	c.(568-570)TCG>TTG	p.S190L	SNTG1_uc003xqs.1_Missense_Mutation_p.S190L|SNTG1_uc010lxz.1_Missense_Mutation_p.S190L|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	190					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCATGCTCGTCGTGGCCGACG	0.478													T	51449257	C	T	51449257	3	4	87	1	0	0	0	0	1	0	0	0	14874	893	31	1	603	1	SNTG1	8	51449257	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	35471219	51449257	94914765	55	57339											
SLC26A7	115111	broad.mit.edu	37	chr8	92330586	92330586	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aatgaaaatgccatatatatCcggaccacttggattctttt	6	8	1	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr8:92330586C>A	uc003yex.2	+	6	898	c.620C>A	c.(619-621)TCC>TAC	p.S207Y	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.S207Y|SLC26A7_uc003yfa.2_Missense_Mutation_p.S207Y	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	207	Helical; (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CCATATATATCCGGACCACTT	0.393													A	92330586	C	A	92330586	3	1	87	1	0	0	0	0	1	0	0	0	14522	855	30	5	634	5	SLC26A7	8	92330586	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	40881329	92330586	54033436	56	57340											
KCNS2	3788	broad.mit.edu	37	chr8	99440584	99440584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctacagctaccatggccGcaaagtagagcccgagcagg	12	13	0	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr8:99440584G>A	uc003yin.2	+	2	727	c.377G>A	c.(376-378)CGC>CAC	p.R126H		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	126	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TACCATGGCCGCAAAGTAGAG	0.552													A	99440584	G	A	99440584	3	1	87	1	0	0	0	0	1	0	0	0	8089	1087	38	1	379	1	KCNS2	8	99440584	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	7109998	99440584	46923438	57	57341											
TAF2	6873	broad.mit.edu	37	chr8	120758995	120758995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcttggattatttgcagCttcttggttgcctgctactg	10	9	1	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr8:120758995C>T	uc003you.2	-	23	3328	c.3058G>A	c.(3058-3060)GCT>ACT	p.A1020T		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	1020					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTATTTGCAGCTTCTTGGTTG	0.408													T	120758995	C	T	120758995	3	4	87	1	0	0	0	0	1	0	0	0	15521	797	28	2	557	2	TAF2	8	120758995	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	21318411	120758995	25605027	58	57342											
COL22A1	169044	broad.mit.edu	37	chr8	139833571	139833571	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcattgacccgagaacctcgGaagaccaccctgacagcatc	8	15	1	4			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr8:139833571G>A	uc003yvd.2	-	7	1500	c.1053C>T	c.(1051-1053)TTC>TTT	p.F351F		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	351	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GAGAACCTCGGAAGACCACCC	0.582										HNSCC(7;0.00092)			A	139833571	G	A	139833571	2	1	87	1	0	0	0	0	0	0	0	1	3681	1165	41	4		4	COL22A1	8	139833571	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08	19074576	139833571	6530451	59	57343											
DDX58	23586	broad.mit.edu	37	chr9	32457294	32457294	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attccccagtcatggctgcaGttctgtcgggcacagaatat	10	11	2	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr9:32457294G>C	uc003zra.2	-	18	2762	c.2604C>G	c.(2602-2604)AAC>AAG	p.N868K	DDX58_uc010mjj.2_RNA|DDX58_uc010mji.2_Missense_Mutation_p.N797K	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	868	Repressor domain.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CATGGCTGCAGTTCTGTCGGG	0.403													C	32457294	G	C	32457294	3	2	87	1	0	0	0	0	1	0	0	0	4375	1020	36	5	177	5	DDX58	9	32457294	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08		32457294	108756137	60	57344											
DNAJB5	25822	broad.mit.edu	37	chr9	34993304	34993304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagatcaagaaagcctaccGgaagatggccttgaagtacc	11	9	1	4			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr9:34993304G>A	uc003zvt.2	+	2	212	c.74G>A	c.(73-75)CGG>CAG	p.R25Q	DNAJB5_uc003zvs.2_Missense_Mutation_p.R59Q|DNAJB5_uc011los.1_Missense_Mutation_p.R97Q	NM_012266	NP_036398	O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	25	J.				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding				0			LUSC - Lung squamous cell carcinoma(32;0.00575)			AAAGCCTACCGGAAGATGGCC	0.498													A	34993304	G	A	34993304	3	1	87	1	0	0	0	0	1	0	0	0	4623	1116	39	1	296	1	DNAJB5	9	34993304	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	2536010	34993304	106220127	61	57345											
WNK2	65268	broad.mit.edu	37	chr9	96021401	96021401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccagccttgcctctgcaGgctgtgaagctgccccaccc	9	19	1	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr9:96021401G>A	uc004ati.1	+	11	2571	c.2571G>A	c.(2569-2571)CAG>CAA	p.Q857Q	WNK2_uc011lud.1_Silent_p.Q857Q|WNK2_uc004atj.2_Silent_p.Q857Q|WNK2_uc004atk.2_Silent_p.Q494Q|WNK2_uc010mrc.1_Silent_p.Q805Q	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	857					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						TGCCTCTGCAGGCTGTGAAGC	0.687													A	96021401	G	A	96021401	2	1	87	1	0	0	0	0	0	0	0	1	17375	991	35	4		4	WNK2	9	96021401	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08	61028097	96021401	45192030	62	57346											
ASTN2	23245	broad.mit.edu	37	chr9	119976958	119976958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgacgcttctgccaacGtcgctgggcgtacagcgcca	14	15	1	0	rs138260564		TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr9:119976958G>A	uc004bjs.1	-	3	795	c.694C>T	c.(694-696)CGT>TGT	p.R232C	ASTN2_uc004bjr.1_Missense_Mutation_p.R232C|ASTN2_uc004bjt.1_Missense_Mutation_p.R232C	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	232	Cytoplasmic (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						TTCTGCCAACGTCGCTGGGCG	0.632													A	119976958	G	A	119976958	3	1	87	1	0	0	0	0	1	0	0	0	1065	1145	40	1	3484	1	ASTN2	9	119976958	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	23955557	119976958	21236473	63	57347											
SEC16A	9919	broad.mit.edu	37	chr9	139369132	139369132	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactggaatggtttgccttaTtaccatcaggcaccagggtg	12	9	1	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr9:139369132T>C	uc004chx.2	-	3	3245	c.2936A>G	c.(2935-2937)AAT>AGT	p.N979S	SEC16A_uc004chv.3_Intron|SEC16A_uc004chw.2_Missense_Mutation_p.N979S|SEC16A_uc010nbn.2_Missense_Mutation_p.N979S|SEC16A_uc010nbo.1_Missense_Mutation_p.N979S	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	801					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GTTTGCCTTATTACCATCAGG	0.502													C	139369132	T	C	139369132	3	2	87	1	0	0	0	0	1	0	0	0	13986	1493	52	3	4257	3	SEC16A	9	139369132	Missense_Mutation	SNP	T	TCGA-BR-8381-01A-11D-2394-08	19392174	139369132	1844299	64	57348											
NCOA4	8031	broad.mit.edu	37	chr10	51579230	51579230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggagggacttggagcttgCtattggtggagttctccggg	17	7	1	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr10:51579230C>T	uc001jis.3	+	2	292	c.89C>T	c.(88-90)GCT>GTT	p.A30V	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Missense_Mutation_p.A46V|NCOA4_uc010qhd.1_Missense_Mutation_p.A46V|NCOA4_uc010qhe.1_Intron|NCOA4_uc010qhf.1_Intron|NCOA4_uc001jit.2_Missense_Mutation_p.A30V|NCOA4_uc009xoo.2_Missense_Mutation_p.A30V	NM_001145263	NP_001138735	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4 isoform 3	30					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			central_nervous_system(1)|kidney(1)	2						TTGGAGCTTGCTATTGGTGGA	0.488			T	RET	papillary thyroid 								T	51579230	C	T	51579230	3	4	87	1	0	0	0	0	1	0	0	0	10231	797	28	2	143	2	NCOA4	10	51579230	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08		51579230	83955517	65	57349											
CCAR1	55749	broad.mit.edu	37	chr10	70509365	70509365	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagatctccacgaagagaGcgagagcgatcacctcggag	13	10	2	3			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr10:70509365G>A	uc001joo.2	+	10	1160	c.1041G>A	c.(1039-1041)GAG>GAA	p.E347E	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Silent_p.E152E|CCAR1_uc009xpx.1_Silent_p.E321E|CCAR1_uc001jon.1_Silent_p.E293E|CCAR1_uc010qiz.1_Silent_p.E332E|CCAR1_uc010qja.1_Silent_p.E332E|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	347	Arg-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7						CACGAAGAGAGCGAGAGCGAT	0.453													A	70509365	G	A	70509365	2	1	87	1	0	0	0	0	0	0	0	1	2730	962	34	2		2	CCAR1	10	70509365	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08	18930135	70509365	65025382	66	57350											
NODAL	4838	broad.mit.edu	37	chr10	72192776	72192776	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacatacagcatgctcagCggcttggtcttcactggggc	11	13	3	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr10:72192776C>T	uc001jrc.2	-	3	1002	c.960G>A	c.(958-960)CCG>CCA	p.P320P		NM_018055	NP_060525	Q96S42	NODAL_HUMAN	nodal precursor	320					growth	extracellular space	cytokine activity|growth factor activity			large_intestine(1)|kidney(1)	2						GCATGCTCAGCGGCTTGGTCT	0.512													T	72192776	C	T	72192776	2	4	87	1	0	0	0	0	0	0	0	1	10518	755	27	1		1	NODAL	10	72192776	Silent	SNP	C	TCGA-BR-8381-01A-11D-2394-08	1683411	72192776	63341971	67	57351											
PTEN	5728	broad.mit.edu	37	chr10	89624298	89624298	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaggatggattcgacttagaCttgacctgtatccatttctg	10	8	1	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr10:89624298C>G	uc001kfb.2	+	2	1103	c.72C>G	c.(70-72)GAC>GAG	p.D24E	KILLIN_uc009xti.2_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	24	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(13)|p.0?(12)|p.D24G(4)|p.D24E(2)|p.D24N(2)|p.D24fs*19(2)|p.D24Y(2)|p.D24fs*20(2)|p.D24_L25del(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCGACTTAGACTTGACCTGTA	0.463		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89624298	C	G	89624298	3	3	87	1	0	0	0	0	1	0	0	0	12738	564	20	5	74	5	PTEN	10	89624298	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	17431522	89624298	45910449	68	57352											
TDRD1	56165	broad.mit.edu	37	chr10	115966034	115966034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccatgtgcttatagaaatGggatatggcttgaaacccag	11	7	0	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr10:115966034G>A	uc001lbg.1	+	11	1482	c.1329G>A	c.(1327-1329)ATG>ATA	p.M443I	TDRD1_uc001lbf.2_Missense_Mutation_p.M434I|TDRD1_uc001lbh.1_Missense_Mutation_p.M434I|TDRD1_uc001lbi.1_Missense_Mutation_p.M434I|TDRD1_uc010qsc.1_Missense_Mutation_p.M104I|TDRD1_uc001lbj.2_Missense_Mutation_p.M152I	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	443					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTATAGAAATGGGATATGGCT	0.343													A	115966034	G	A	115966034	3	1	87	1	0	0	0	0	1	0	0	0	15727	1348	47	4	1367	4	TDRD1	10	115966034	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	26341736	115966034	19568713	69	57353											
TCERG1L	256536	broad.mit.edu	37	chr10	132944801	132944801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcttgcgtttgtggggcGggtcctcaatgatcctgttg	14	10	1	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr10:132944801G>A	uc001lkp.2	-	7	1243	c.1157C>T	c.(1156-1158)CCG>CTG	p.P386L	TCERG1L_uc009yax.1_RNA	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	386										large_intestine(2)|ovary(2)	4		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TTTGTGGGGCGGGTCCTCAAT	0.502													A	132944801	G	A	132944801	3	1	87	1	0	0	0	0	1	0	0	0	15683	1116	39	1	627	1	TCERG1L	10	132944801	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	16978767	132944801	2589946	70	57354											
TSSC4	10078	broad.mit.edu	37	chr11	2424472	2424472	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtgtcctccttcaaccaGgatccctccagctgtgggga	11	14	1	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr11:2424472G>A	uc001lwj.2	+	4	970	c.609G>A	c.(607-609)CAG>CAA	p.Q203Q	TSSC4_uc001lwi.2_Silent_p.Q139Q|TSSC4_uc001lwk.2_Silent_p.Q203Q|TSSC4_uc001lwl.2_Silent_p.Q203Q	NM_005706	NP_005697	Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	203											0		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTTCAACCAGGATCCCTCCA	0.647													A	2424472	G	A	2424472	2	1	87	1	0	0	0	0	0	0	0	1	16664	991	35	4		4	TSSC4	11	2424472	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08		2424472	132582044	71	57355											
OR56B1	387748	broad.mit.edu	37	chr11	5758141	5758141	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatggcttttgatagatAtgtggctatttgtcaccctc	9	9	1	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr11:5758141A>T	uc001mbt.1	+	1	395	c.395A>T	c.(394-396)TAT>TTT	p.Y132F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|OR56B1_uc001mbs.1_Missense_Mutation_p.Y132F|OR56B1_uc009yev.1_Missense_Mutation_p.Y132F	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B,	132	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)		TTTGATAGATATGTGGCTATT	0.428													T	5758141	A	T	5758141	3	4	87	1	0	0	0	0	1	0	0	0	11137	449	16	5	397	5	OR56B1	11	5758141	Missense_Mutation	SNP	A	TCGA-BR-8381-01A-11D-2394-08	3333669	5758141	129248375	72	57356											
FIBIN	387758	broad.mit.edu	37	chr11	27016359	27016359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggtggaggatgctgggCgcgtgctggagggcatcagc	20	9	1	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr11:27016359C>T	uc001mrd.2	+	1	732	c.286C>T	c.(286-288)CGC>TGC	p.R96C		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog precursor	96						extracellular region|Golgi apparatus					0						GGATGCTGGGCGCGTGCTGGA	0.667													T	27016359	C	T	27016359	3	4	87	1	0	0	0	0	1	0	0	0	5885	768	27	1	288	1	FIBIN	11	27016359	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	21258218	27016359	107990157	73	57357											
ACP2	53	broad.mit.edu	37	chr11	47264443	47264443	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgaaagtacatctccactgaGaaattcctgagggtcgacag	10	10	1	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr11:47264443G>A	uc001nei.2	-	10	1086	c.969C>T	c.(967-969)TTC>TTT	p.F323F	ACP2_uc010rhe.1_Silent_p.F295F|ACP2_uc009ylj.2_Silent_p.F251F|ACP2_uc010rhf.1_Silent_p.F291F|ACP2_uc010rhg.1_Silent_p.F260F|ACP2_uc010rhh.1_Silent_p.F136F|ACP2_uc010rhi.1_Silent_p.F136F|ACP2_uc009ylk.2_Silent_p.F290F	NM_001610	NP_001601	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal isoform 1	323	Lumenal (Potential).					integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			ovary(1)	1						TCTCCACTGAGAAATTCCTGA	0.657													A	47264443	G	A	47264443	2	1	87	1	0	0	0	0	0	0	0	1	163	933	33	4		4	ACP2	11	47264443	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08	20248084	47264443	87742073	74	57358											
OR8J3	81168	broad.mit.edu	37	chr11	55904988	55904988	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acagtagagttgccaagattGatgatagctagatgtctcag	11	6	1	5			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr11:55904988G>T	uc010riz.1	-	1	207	c.207C>A	c.(205-207)ATC>ATA	p.I69I		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	69	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					TGCCAAGATTGATGATAGCTA	0.448													T	55904988	G	T	55904988	2	4	87	1	0	0	0	0	0	0	0	1	11242	1280	45	5		5	OR8J3	11	55904988	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08	8640545	55904988	79101528	75	57359											
OR5A1	219982	broad.mit.edu	37	chr11	59211548	59211548	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaacaaagagatcaaggatGccctgtggaaggtgttggaa	15	5	1	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr11:59211548G>T	uc001nnx.1	+	1	907	c.907G>T	c.(907-909)GCC>TCC	p.A303S		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	303	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2						GATCAAGGATGCCCTGTGGAA	0.428													T	59211548	G	T	59211548	3	4	87	1	0	0	0	0	1	0	0	0	11139	1319	46	5	909	5	OR5A1	11	59211548	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	3306560	59211548	75794968	76	57360											
TAF6L	10629	broad.mit.edu	37	chr11	62554020	62554020	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcgactgctgaagatgaaggCccaggcagcagagcccaaca	13	12	0	4			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr11:62554020C>G	uc001nvc.2	+	11	1222	c.1121C>G	c.(1120-1122)GCC>GGC	p.A374G	TMEM179B_uc001nvd.3_5'Flank	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II	374					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			ovary(3)	3						AAGATGAAGGCCCAGGCAGCA	0.577											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	62554020	C	G	62554020	3	3	87	1	0	0	0	0	1	0	0	0	15528	739	26	5	1159	5	TAF6L	11	62554020	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	3342472	62554020	72452496	77	57361											
NRXN2	9379	broad.mit.edu	37	chr11	64434944	64434944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagagcagcagcccattggGctcggtggtgcggaagtcta	16	9	1	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr11:64434944G>A	uc001oar.2	-	10	2015	c.1576C>T	c.(1576-1578)CCC>TCC	p.P526S	NRXN2_uc001oas.2_Missense_Mutation_p.P495S|NRXN2_uc001oaq.2_Missense_Mutation_p.P193S	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:Variant_position_missing_in_P58401_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						AGCCCATTGGGCTCGGTGGTG	0.657													A	64434944	G	A	64434944	3	1	87	1	0	0	0	0	1	0	0	0	10666	1203	42	2	3891	2	NRXN2	11	64434944	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	1880924	64434944	70571572	78	57362											
RELA	5970	broad.mit.edu	37	chr11	65425949	65425949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctcccagcctggtcccGtgaaatacacctcaatgtcc	9	16	1	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr11:65425949G>A	uc001ofg.2	-	8	826	c.686C>T	c.(685-687)ACG>ATG	p.T229M	RELA_uc001ofh.2_Missense_Mutation_p.T226M|RELA_uc010ron.1_Missense_Mutation_p.T240M|RELA_uc009yqr.2_Missense_Mutation_p.T176M|RELA_uc001ofe.2_Missense_Mutation_p.T229M|RELA_uc001off.2_Missense_Mutation_p.T229M|RELA_uc009yqs.1_Intron	NM_021975	NP_068810	Q04206	TF65_HUMAN	v-rel reticuloendotheliosis viral oncogene	229	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			lung(3)|ovary(1)	4						GCCTGGTCCCGTGAAATACAC	0.587													A	65425949	G	A	65425949	3	1	87	1	0	0	0	0	1	0	0	0	13216	1145	40	1	985	1	RELA	11	65425949	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	991005	65425949	69580567	79	57363											
ARHGEF17	9828	broad.mit.edu	37	chr11	73022573	73022573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgccatgccagtgtgcccGccacatttatgcctattgtg	9	13	0	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr11:73022573G>A	uc001otu.2	+	1	2911	c.2890G>A	c.(2890-2892)GCC>ACC	p.A964T		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	964	Pro-rich.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						CAGTGTGCCCGCCACATTTAT	0.627													A	73022573	G	A	73022573	3	1	87	1	0	0	0	0	1	0	0	0	900	1087	38	1	2892	1	ARHGEF17	11	73022573	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	7596624	73022573	61983943	80	57364											
SYTL2	54843	broad.mit.edu	37	chr11	85407418	85407418	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcgacttttcctacttgtatCtggaaggatggtactacaaa	9	8	1	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr11:85407418C>A	uc010rth.1	-	17	2743	c.2467G>T	c.(2467-2469)GAT>TAT	p.D823Y	SYTL2_uc010rtg.1_Missense_Mutation_p.D824Y|SYTL2_uc010rti.1_Missense_Mutation_p.D799Y|SYTL2_uc010rtj.1_Missense_Mutation_p.D791Y|SYTL2_uc001pav.2_Missense_Mutation_p.D265Y|SYTL2_uc010rte.1_Missense_Mutation_p.D225Y|SYTL2_uc001pax.2_Missense_Mutation_p.D265Y|SYTL2_uc001paz.2_Missense_Mutation_p.D144Y|SYTL2_uc001pba.2_Missense_Mutation_p.D208Y|SYTL2_uc001pay.2_Missense_Mutation_p.D254Y|SYTL2_uc001paw.2_Missense_Mutation_p.D225Y|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Missense_Mutation_p.D1121Y|SYTL2_uc001pbb.2_Missense_Mutation_p.D1161Y|SYTL2_uc001pbc.2_Missense_Mutation_p.D1145Y|SYTL2_uc010rtf.1_Missense_Mutation_p.D641Y	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	823	C2 2.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTACTTGTATCTGGAAGGATG	0.408													A	85407418	C	A	85407418	3	1	87	1	0	0	0	0	1	0	0	0	15480	913	32	5	345	5	SYTL2	11	85407418	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	12384845	85407418	49599098	81	57365											
FAT3	120114	broad.mit.edu	37	chr11	92534929	92534929	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtcagagtgacagataTaaatgacaatgcaccagtct	8	9	3	4			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr11:92534929T>A	uc001pdj.3	+	9	8767	c.8750T>A	c.(8749-8751)ATA>AAA	p.I2917K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2917	Cadherin 26.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGACAGATATAAATGACAAT	0.567										TCGA Ovarian(4;0.039)			A	92534929	T	A	92534929	3	1	87	1	0	0	0	0	1	0	0	0	5691	1406	49	5	8784	5	FAT3	11	92534929	Missense_Mutation	SNP	T	TCGA-BR-8381-01A-11D-2394-08	7127511	92534929	42471587	82	57366											
CARD16	114769	broad.mit.edu	37	chr11	104915338	104915338	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taagccatttattgtaccttCacccatggaatggataaaca	6	9	1	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr11:104915338C>T	uc001pip.1	-	2	82	c.55G>A	c.(55-57)GAA>AAA	p.E19K	CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_Missense_Mutation_p.E19K	NM_001017534	NP_001017534	Q5EG05	CAR16_HUMAN	caspase-1 dominant-negative inhibitor pseudo-ICE	19	CARD.				regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			skin(1)	1						ATTGTACCTTCACCCATGGAA	0.408													T	104915338	C	T	104915338	3	4	87	1	0	0	0	0	1	0	0	0	2647	835	29	4	570	4	CARD16	11	104915338	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	12380409	104915338	30091178	83	57367											
CCND2	894	broad.mit.edu	37	chr12	4409052	4409052	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcaaagcttgccaggagcaGattgaggcggtgctcctcaa	12	11	2	2	rs149961693		TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr12:4409052G>T	uc001qmo.2	+	5	1052	c.747G>T	c.(745-747)CAG>CAT	p.Q249H		NM_001759	NP_001750	P30279	CCND2_HUMAN	cyclin D2	249					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1)	3			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GCCAGGAGCAGATTGAGGCGG	0.527			T	IGL@	NHL,CLL								T	4409052	G	T	4409052	3	4	87	1	0	0	0	0	1	0	0	0	2917	933	33	5	765	5	CCND2	12	4409052	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08		4409052	129442843	84	57368											
USP5	8078	broad.mit.edu	37	chr12	6973267	6973267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggccgggctccacaagcGcagcagccgacccccctcct	12	19	0	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr12:6973267G>A	uc001qri.3	+	17	2211	c.2152G>A	c.(2152-2154)GCA>ACA	p.A718T	USP5_uc001qrh.3_Missense_Mutation_p.A695T	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	718					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4						CTCCACAAGCGCAGCAGCCGA	0.627													A	6973267	G	A	6973267	3	1	87	1	0	0	0	0	1	0	0	0	17078	1087	38	1	2218	1	USP5	12	6973267	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	2564215	6973267	126878628	85	57369											
ABCC9	10060	broad.mit.edu	37	chr12	22069960	22069960	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaacgcaggtttgataTgtccaagccagactgacagt	11	9	0	4			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr12:22069960T>G	uc001rfi.1	-	4	504	c.484A>C	c.(484-486)ATA>CTA	p.I162L	ABCC9_uc001rfh.2_Missense_Mutation_p.I162L|ABCC9_uc001rfj.1_Missense_Mutation_p.I162L	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	162	Extracellular (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGGTTTGATATGTCCAAGCCA	0.413													G	22069960	T	G	22069960	3	3	87	1	0	0	0	0	1	0	0	0	59	1464	51	5	4447	5	ABCC9	12	22069960	Missense_Mutation	SNP	T	TCGA-BR-8381-01A-11D-2394-08	15096693	22069960	111781935	86	57370											
LRRK2	120892	broad.mit.edu	37	chr12	40626149	40626149	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagcttaatgggaccccaggAtgttggaaatgattgggaag	14	5	0	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr12:40626149A>T	uc001rmg.3	+	3	432	c.311A>T	c.(310-312)GAT>GTT	p.D104V		NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	104					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGACCCCAGGATGTTGGAAAT	0.388													T	40626149	A	T	40626149	3	4	87	1	0	0	0	0	1	0	0	0	9033	333	12	5	321	5	LRRK2	12	40626149	Missense_Mutation	SNP	A	TCGA-BR-8381-01A-11D-2394-08	18556189	40626149	93225746	87	57371											
MLL2	8085	broad.mit.edu	37	chr12	49425038	49425038	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccgttgatctcagctcGcagcccctcggacccccgcc	10	20	1	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr12:49425038G>A	uc001rta.3	-	39	13450	c.13450C>T	c.(13450-13452)CGA>TGA	p.R4484*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4484					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						ATCTCAGCTCGCAGCCCCTCG	0.597			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49425038	G	A	49425038	4	1	87	1	0	0	0	0	0	1	0	0	9621	1095	38	1	3227	1	MLL2	12	49425038	Nonsense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	8798889	49425038	84426857	88	57372											
DNAJC14	85406	broad.mit.edu	37	chr12	56222006	56222006	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agttgctagaagaaccatttCctccctcagagtaaggccct	8	12	1	3			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr12:56222006C>A	uc001shx.1	-	2	641	c.437G>T	c.(436-438)GGA>GTA	p.G146V	DNAJC14_uc001shu.1_Missense_Mutation_p.G146V|DNAJC14_uc009zob.1_Missense_Mutation_p.G146V|DNAJC14_uc001shy.1_Missense_Mutation_p.G146V	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	146					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						AGAACCATTTCCTCCCTCAGA	0.473													A	56222006	C	A	56222006	3	1	87	1	0	0	0	0	1	0	0	0	4633	855	30	5	1695	5	DNAJC14	12	56222006	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	6796968	56222006	77629889	89	57373											
ERBB3	2065	broad.mit.edu	37	chr12	56482393	56482393	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacaagatggaagtagataAaaatgggctcaagatgtgtg	13	3	1	4	rs137870123		TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr12:56482393A>C	uc001sjh.2	+	8	1134	c.941A>C	c.(940-942)AAA>ACA	p.K314T	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.K255T|ERBB3_uc001sji.2_Missense_Mutation_p.K5T	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	314	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GAAGTAGATAAAAATGGGCTC	0.483													C	56482393	A	C	56482393	3	2	87	1	0	0	0	0	1	0	0	0	5208	14	1	5	1102	5	ERBB3	12	56482393	Missense_Mutation	SNP	A	TCGA-BR-8381-01A-11D-2394-08	260387	56482393	77369502	90	57374											
LRP1	4035	broad.mit.edu	37	chr12	57605026	57605026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgatggctcccgacaatgCcgctgcactgcctactttga	10	14	0	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr12:57605026C>T	uc001snd.2	+	84	13450	c.12984C>T	c.(12982-12984)TGC>TGT	p.C4328C		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	4328	Extracellular (Potential).|EGF-like 20.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCGACAATGCCGCTGCACTG	0.582													T	57605026	C	T	57605026	2	4	87	1	0	0	0	0	0	0	0	1	8951	747	26	2		2	LRP1	12	57605026	Silent	SNP	C	TCGA-BR-8381-01A-11D-2394-08	1122633	57605026	76246869	91	57375											
PPFIA2	8499	broad.mit.edu	37	chr12	81732996	81732996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttttcttttttaccaaaCaaacgtcctattgaagactt	4	9	1	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr12:81732996C>T	uc001szo.1	-	21	2672	c.2511G>A	c.(2509-2511)TTG>TTA	p.L837L	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	763										ovary(3)|lung(2)|pancreas(1)	6						TTTTACCAAACAAACGTCCTA	0.453													T	81732996	C	T	81732996	2	4	87	1	0	0	0	0	0	0	0	1	12310	477	17	4		4	PPFIA2	12	81732996	Silent	SNP	C	TCGA-BR-8381-01A-11D-2394-08	24127970	81732996	52118899	92	57376											
TCP11L2	255394	broad.mit.edu	37	chr12	106729908	106729908	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaattaccaacaacatggtGggtgctattacaggaggcct	10	9	0	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr12:106729908G>A	uc001tln.2	+	8	1233	c.1059G>A	c.(1057-1059)GTG>GTA	p.V353V		NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	353										ovary(3)	3						ACAACATGGTGGGTGCTATTA	0.418													A	106729908	G	A	106729908	2	1	87	1	0	0	0	0	0	0	0	1	15712	1335	47	4		4	TCP11L2	12	106729908	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08	24996912	106729908	27121987	93	57377											
TBX5	6910	broad.mit.edu	37	chr12	114793594	114793594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccagccgagggaccagggGccccgaggtgaagtgagcgg	19	11	0	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr12:114793594G>A	uc001tvo.2	-	9	1795	c.1300C>T	c.(1300-1302)CCC>TCC	p.P434S	TBX5_uc001tvp.2_Missense_Mutation_p.P434S|TBX5_uc001tvq.2_Missense_Mutation_p.P384S	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	434				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGGACCAGGGGCCCCGAGGTG	0.652													A	114793594	G	A	114793594	3	1	87	1	0	0	0	0	1	0	0	0	15658	1203	42	2	260	2	TBX5	12	114793594	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	8063686	114793594	19058301	94	57378											
SLITRK6	84189	broad.mit.edu	37	chr13	86370491	86370491	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcagataccatcttgataccTtttgcttcacaatttattag	4	9	3	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr13:86370491T>A	uc001vll.1	-	2	612	c.153A>T	c.(151-153)AAA>AAT	p.K51N	SLITRK6_uc010afe.1_5'Flank	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	51	LRRNT 1.|Extracellular (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCTTGATACCTTTTGCTTCAC	0.398													A	86370491	T	A	86370491	3	1	87	1	0	0	0	0	1	0	0	0	14747	1606	56	5	2376	5	SLITRK6	13	86370491	Missense_Mutation	SNP	T	TCGA-BR-8381-01A-11D-2394-08		86370491	28799387	95	57379											
SLITRK5	26050	broad.mit.edu	37	chr13	88328927	88328927	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcgtgcgcaggacagaCttcctggaggccacggggct	16	12	0	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr13:88328927C>T	uc001vln.2	+	2	1503	c.1284C>T	c.(1282-1284)GAC>GAT	p.D428D	SLITRK5_uc010tic.1_Silent_p.D187D	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	428	LRR 7.|Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCAGGACAGACTTCCTGGAGG	0.577													T	88328927	C	T	88328927	2	4	87	1	0	0	0	0	0	0	0	1	14746	564	20	4		4	SLITRK5	13	88328927	Silent	SNP	C	TCGA-BR-8381-01A-11D-2394-08	1958436	88328927	26840951	96	57380											
LIG4	3981	broad.mit.edu	37	chr13	108861005	108861005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctttaaaatctgcaacaCgactatgatcttccccaatt	4	11	2	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr13:108861005C>T	uc001vqn.2	-	2	2885	c.2612G>A	c.(2611-2613)CGT>CAT	p.R871H	LIG4_uc001vqo.2_Missense_Mutation_p.R871H|LIG4_uc010agg.1_Missense_Mutation_p.R804H|LIG4_uc010agf.2_Missense_Mutation_p.R871H|LIG4_uc001vqp.2_Missense_Mutation_p.R871H	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	871	BRCT 2.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATCTGCAACACGACTATGATC	0.343								NHEJ					T	108861005	C	T	108861005	3	4	87	1	0	0	0	0	1	0	0	0	8783	536	19	1	127	1	LIG4	13	108861005	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	20532078	108861005	6308873	97	57381											
DCAF11	80344	broad.mit.edu	37	chr14	24587663	24587663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcaagagcatcaaggcccGcgacgtaggctggagcgtct	13	11	3	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr14:24587663G>A	uc001wlv.2	+	7	924	c.644G>A	c.(643-645)CGC>CAC	p.R215H	DCAF11_uc001wlw.2_Missense_Mutation_p.R215H|DCAF11_uc001wlz.2_Missense_Mutation_p.R115H|DCAF11_uc001wly.2_Missense_Mutation_p.R171H|DCAF11_uc001wme.2_Missense_Mutation_p.R175H|DCAF11_uc010tny.1_Missense_Mutation_p.R82H|DCAF11_uc001wmd.2_Missense_Mutation_p.R215H|DCAF11_uc001wmc.2_Missense_Mutation_p.R115H|DCAF11_uc001wmb.3_Missense_Mutation_p.R189H|DCAF11_uc001wma.3_Missense_Mutation_p.R215H	NM_001163484	NP_001156956	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11 isoform 1	215						CUL4 RING ubiquitin ligase complex	protein binding				0						ATCAAGGCCCGCGACGTAGGC	0.512													A	24587663	G	A	24587663	3	1	87	1	0	0	0	0	1	0	0	0	4262	1087	38	1	666	1	DCAF11	14	24587663	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08		24587663	82761877	98	57382											
TRIM9	114088	broad.mit.edu	37	chr14	51561035	51561035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggccgggggcaccaggCggtgcttggctaggggcccc	19	14	0	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr14:51561035C>T	uc001wyx.3	-	1	1388	c.623G>A	c.(622-624)CGC>CAC	p.R208H	TRIM9_uc001wyy.2_Missense_Mutation_p.R208H|TRIM9_uc001wyz.3_Missense_Mutation_p.R208H	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	208	B box-type 1.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					GGGCACCAGGCGGTGCTTGGC	0.677													T	51561035	C	T	51561035	3	4	87	1	0	0	0	0	1	0	0	0	16546	768	27	1	1599	1	TRIM9	14	51561035	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	26973372	51561035	55788505	99	57383											
NID2	22795	broad.mit.edu	37	chr14	52535485	52535485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagggggctgaacttacGtagaggttgctgaatcgggc	17	7	0	3			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr14:52535485G>A	uc001wzo.2	-	1	462	c.228C>T	c.(226-228)TAC>TAT	p.Y76Y	NID2_uc010tqs.1_Silent_p.Y76Y|NID2_uc010tqt.1_Silent_p.Y76Y|NID2_uc001wzp.2_Silent_p.Y76Y	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	76						basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGAACTTACGTAGAGGTTGC	0.617													A	52535485	G	A	52535485	2	1	87	1	0	0	0	0	0	0	0	1	10415	1159	40	1		1	NID2	14	52535485	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08	974450	52535485	54814055	100	57384											
ABCD4	5826	broad.mit.edu	37	chr14	74764652	74764652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggttatcgatgtcatcccGcagcacgttgagggtgtagt	14	9	1	1	rs145141432	byFrequency	TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr14:74764652G>A	uc001xpr.2	-	4	558	c.406C>T	c.(406-408)CGG>TGG	p.R136W	ABCD4_uc001xps.2_5'UTR|ABCD4_uc001xpt.2_5'UTR|ABCD4_uc010tur.1_Missense_Mutation_p.R49W|ABCD4_uc001xpu.2_Intron|ABCD4_uc001xpv.2_RNA	NM_005050	NP_005041	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D, member 4	136	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00153)		ATGTCATCCCGCAGCACGTTG	0.587													A	74764652	G	A	74764652	3	1	87	1	0	0	0	0	1	0	0	0	63	1086	38	1	1478	1	ABCD4	14	74764652	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	22229167	74764652	32584888	101	57385											
GPR132	29933	broad.mit.edu	37	chr14	105517676	105517676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagtaggaaaaggcagcGgctttgacgaggagaaccag	15	7	0	2	rs45441203	byFrequency	TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr14:105517676G>A	uc001yqd.2	-	4	1697	c.798C>T	c.(796-798)GCC>GCT	p.A266A	GPR132_uc001yqc.2_Silent_p.A78A|GPR132_uc001yqe.2_Silent_p.A257A	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	266	Helical; Name=6; (Potential).				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		AAAAGGCAGCGGCTTTGACGA	0.587													A	105517676	G	A	105517676	2	1	87	1	0	0	0	0	0	0	0	1	6642	1103	39	1		1	GPR132	14	105517676	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08	30753024	105517676	1831864	102	57386											
GABRG3	2567	broad.mit.edu	37	chr15	27271924	27271924	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaccgaccgtaattgacgttGacatttatgttaacagcatt	7	8	0	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr15:27271924G>A	uc001zbg.1	+	3	392	c.226G>A	c.(226-228)GAC>AAC	p.D76N	GABRG3_uc001zbf.2_Missense_Mutation_p.D76N	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma	76	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity				0		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		AATTGACGTTGACATTTATGT	0.393													A	27271924	G	A	27271924	3	1	87	1	0	0	0	0	1	0	0	0	6173	1290	45	4	236	4	GABRG3	15	27271924	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08		27271924	75259468	103	57387											
APBA2	321	broad.mit.edu	37	chr15	29346438	29346438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagagggcatggactgcaaCggggaggagtacctggccca	16	10	0	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr15:29346438C>T	uc001zck.2	+	3	558	c.351C>T	c.(349-351)AAC>AAT	p.N117N	APBA2_uc010azj.2_Silent_p.N117N|APBA2_uc010uat.1_Silent_p.N117N|APBA2_uc001zcl.2_Silent_p.N117N|APBA2_uc010uas.1_Silent_p.N117N	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	117					nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TGGACTGCAACGGGGAGGAGT	0.647													T	29346438	C	T	29346438	2	4	87	1	0	0	0	0	0	0	0	1	757	535	19	1		1	APBA2	15	29346438	Silent	SNP	C	TCGA-BR-8381-01A-11D-2394-08	2074514	29346438	73184954	104	57388											
INO80	54617	broad.mit.edu	37	chr15	41275164	41275164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactgcctgccgtggactttCggctccggcccttccctgct	10	18	0	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr15:41275164C>T	uc001zni.2	-	35	4562	c.4349G>A	c.(4348-4350)CGA>CAA	p.R1450Q	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	1450	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						CGTGGACTTTCGGCTCCGGCC	0.642													T	41275164	C	T	41275164	3	4	87	1	0	0	0	0	1	0	0	0	7746	884	31	1	329	1	INO80	15	41275164	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	11928726	41275164	61256228	105	57389											
RAB27A	5873	broad.mit.edu	37	chr15	55516100	55516100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactcacccatatttctctgCgagtgctatggcttcctcct	6	14	2	0	rs104894499		TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr15:55516100C>T	uc002aco.2	-	6	687	c.454G>A	c.(454-456)GCA>ACA	p.A152T	RAB27A_uc002acr.2_Missense_Mutation_p.A152T|RAB27A_uc002acp.2_Missense_Mutation_p.A152T|RAB27A_uc002acq.2_Missense_Mutation_p.A152T	NM_183234	NP_899057	P51159	RB27A_HUMAN	Ras-related protein Rab-27A	152			A -> P (in GS2; may affect GTP binding; interferes with melanosome transport).		small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			ovary(1)	1				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TATTTCTCTGCGAGTGCTATG	0.393													T	55516100	C	T	55516100	3	4	87	1	0	0	0	0	1	0	0	0	12914	768	27	1	219	1	RAB27A	15	55516100	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	14240936	55516100	47015292	106	57390											
MEFV	4210	broad.mit.edu	37	chr16	3293377	3293377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcaggcgggtcgggggaaCgctggacgcctggtactcat	17	10	1	0	rs104895096		TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr16:3293377C>T	uc002cun.1	-	10	2150	c.2110G>A	c.(2110-2112)GTT>ATT	p.V704I		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	704	B30.2/SPRY.		V -> I (in arFMF).		inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	GTCGGGGGAACGCTGGACGCC	0.517													T	3293377	C	T	3293377	3	4	87	1	0	0	0	0	1	0	0	0	9459	536	19	1	239	1	MEFV	16	3293377	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08		3293377	87061376	107	57391											
MPV17L	255027	broad.mit.edu	37	chr16	15501819	15501819	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagccttgttcctgttcaAtggagaacagcttacgctgg	10	10	2	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr16:15501819A>G	uc002ddn.2	+	4	585	c.441A>G	c.(439-441)CAA>CAG	p.Q147Q	MPV17L_uc002ddm.2_Missense_Mutation_p.M124V	NM_001128423	NP_001121895	Q2QL34	MP17L_HUMAN	MPV17 mitochondrial membrane protein-like	147	Lumenal.					integral to membrane|peroxisomal membrane					0						TTCCTGTTCAATGGAGAACAG	0.498													G	15501819	A	G	15501819	2	3	87	1	0	0	0	0	0	0	0	1	9746	101	4	3		3	MPV17L	16	15501819	Silent	SNP	A	TCGA-BR-8381-01A-11D-2394-08	12208442	15501819	74852934	108	57392											
SCNN1G	6340	broad.mit.edu	37	chr16	23221166	23221166	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacaacgctgcctactcgctCcaggtaacagattggcaggg	11	12	0	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr16:23221166C>T	uc002dlm.1	+	7	1312	c.1173C>T	c.(1171-1173)CTC>CTT	p.L391L		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma	391	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CCTACTCGCTCCAGGTAACAG	0.567													T	23221166	C	T	23221166	2	4	87	1	0	0	0	0	0	0	0	1	13930	842	30	4		4	SCNN1G	16	23221166	Silent	SNP	C	TCGA-BR-8381-01A-11D-2394-08	7719347	23221166	67133587	109	57393											
IRX5	10265	broad.mit.edu	37	chr16	54966567	54966567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctggctcaacgagcaccGcaagaacccctaccccacca	8	19	1	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr16:54966567G>A	uc002ehv.2	+	2	407	c.407G>A	c.(406-408)CGC>CAC	p.R136H	IRX5_uc010cca.1_Missense_Mutation_p.R188H|IRX5_uc002ehw.2_Missense_Mutation_p.R70H	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	136	Homeobox; TALE-type.				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						AACGAGCACCGCAAGAACCCC	0.652													A	54966567	G	A	54966567	3	1	87	1	0	0	0	0	1	0	0	0	7847	1087	38	1	413	1	IRX5	16	54966567	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	31745401	54966567	35388186	110	57394											
CHST5	23563	broad.mit.edu	37	chr16	75563598	75563598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctcccgggagcgcagcaCggcccgcgggtcgcgcacca	15	19	0	0	rs147923696	byFrequency	TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr16:75563598C>T	uc002fei.2	-	3	2080	c.685G>A	c.(685-687)GTG>ATG	p.V229M	CHST5_uc002fej.1_Missense_Mutation_p.V235M	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	229	Lumenal (Potential).|PAPS (By similarity).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GAGCGCAGCACGGCCCGCGGG	0.706													T	75563598	C	T	75563598	3	4	87	1	0	0	0	0	1	0	0	0	3407	536	19	1	554	1	CHST5	16	75563598	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	20597031	75563598	14791155	111	57395											
DNAH9	1770	broad.mit.edu	37	chr17	11583146	11583146	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaagttgaaaaaggagatttCcaaggcttggttgagatcat	11	4	1	3			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr17:11583146C>A	uc002gne.2	+	18	3494	c.3426C>A	c.(3424-3426)TTC>TTA	p.F1142L	DNAH9_uc010coo.2_Missense_Mutation_p.F436L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1142	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGGAGATTTCCAAGGCTTGG	0.423													A	11583146	C	A	11583146	3	1	87	1	0	0	0	0	1	0	0	0	4608	854	30	5	3496	5	DNAH9	17	11583146	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08		11583146	69612064	112	57396											
GIT1	28964	broad.mit.edu	37	chr17	27903635	27903635	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagccagggccttcttcaGctccaggtactcctgcagcg	11	14	2	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr17:27903635G>A	uc002hef.2	-	13	1499	c.1285C>T	c.(1285-1287)CTG>TTG	p.L429L	GIT1_uc002heg.2_Silent_p.L438L|GIT1_uc010wbg.1_Silent_p.L438L|GIT1_uc010csb.1_Silent_p.L429L	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interactor 1	429					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding				0				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GCCTTCTTCAGCTCCAGGTAC	0.612													A	27903635	G	A	27903635	2	1	87	1	0	0	0	0	0	0	0	1	6396	962	34	2		2	GIT1	17	27903635	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08	16320489	27903635	53291575	113	57397											
STAT3	6774	broad.mit.edu	37	chr17	40474481	40474481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttcagctgctgctttgtGtatggttccacggactggat	12	8	1	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr17:40474481G>A	uc002hzl.1	-	21	2160	c.1920C>T	c.(1918-1920)TAC>TAT	p.Y640Y	STAT3_uc002hzk.1_Silent_p.Y640Y|STAT3_uc002hzm.1_Silent_p.Y640Y|STAT3_uc010wgh.1_Silent_p.Y542Y|STAT3_uc002hzn.1_Silent_p.Y640Y	NM_139276	NP_644805	P40763	STAT3_HUMAN	signal transducer and activator of transcription	640	SH2.				cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GCTGCTTTGTGTATGGTTCCA	0.463									Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome				A	40474481	G	A	40474481	2	1	87	1	0	0	0	0	0	0	0	1	15265	1372	48	4		4	STAT3	17	40474481	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08	12570846	40474481	40720729	114	57398											
ABCC3	8714	broad.mit.edu	37	chr17	48753410	48753410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtagacagaacaacacttCcctgaggctgggcgtctatg	11	11	1	3			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr17:48753410C>T	uc002isl.2	+	22	3106	c.3026C>T	c.(3025-3027)TCC>TTC	p.S1009F	ABCC3_uc002isn.2_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	1009	ABC transmembrane type-1 2.|Extracellular (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AACAACACTTCCCTGAGGCTG	0.547													T	48753410	C	T	48753410	3	4	87	1	0	0	0	0	1	0	0	0	54	855	30	4	3196	4	ABCC3	17	48753410	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	8278929	48753410	32441800	115	57399											
CCDC46	201134	broad.mit.edu	37	chr17	64092380	64092380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcctacctctttctcacGtattcgagagagaaaatgat	6	10	2	3			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr17:64092380G>A	uc002jfl.2	-	8	976	c.757C>T	c.(757-759)CGT>TGT	p.R253C	CCDC46_uc002jfm.2_Missense_Mutation_p.R253C|CCDC46_uc010dep.2_Intron	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	coiled-coil domain containing 46 isoform a	253						centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)			TCTTTCTCACGTATTCGAGAG	0.318													A	64092380	G	A	64092380	3	1	87	1	0	0	0	0	1	0	0	0	2817	1145	40	1	2356	1	CCDC46	17	64092380	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	15338970	64092380	17102830	116	57400											
AATK	9625	broad.mit.edu	37	chr17	79094804	79094804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgagggaggtggagagccGtgtctcgggcccggggccct	19	11	1	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr17:79094804G>A	uc010dia.2	-	11	3012	c.2932C>T	c.(2932-2934)CGG>TGG	p.R978W	AATK_uc010dhz.2_Intron	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	978						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GTGGAGAGCCGTGTCTCGGGC	0.652													A	79094804	G	A	79094804	3	1	87	1	0	0	0	0	1	0	0	0	26	1144	40	1	1208	1	AATK	17	79094804	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	15002424	79094804	2100406	117	57401											
NFATC1	4772	broad.mit.edu	37	chr18	77170747	77170747	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccctccacggccacgctgAgtctgcccagcctggaggcc	11	20	1	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr18:77170747A>C	uc010xfg.1	+	2	925	c.472A>C	c.(472-474)AGT>CGT	p.S158R	NFATC1_uc002lnc.1_Missense_Mutation_p.S158R|NFATC1_uc010xff.1_Missense_Mutation_p.S158R|NFATC1_uc002lnd.2_Missense_Mutation_p.S158R|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.S158R|NFATC1_uc010xfi.1_Missense_Mutation_p.S145R|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.S145R|NFATC1_uc002lng.2_Missense_Mutation_p.S145R|NFATC1_uc010xfk.1_Missense_Mutation_p.S145R	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	158	Trans-activation domain A (TAD-A).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GGCCACGCTGAGTCTGCCCAG	0.627													C	77170747	A	C	77170747	3	2	87	1	0	0	0	0	1	0	0	0	10361	304	11	5	570	5	NFATC1	18	77170747	Missense_Mutation	SNP	A	TCGA-BR-8381-01A-11D-2394-08		77170747	906501	118	57402											
DUS3L	56931	broad.mit.edu	37	chr19	5789320	5789320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctagtgcccggccctgcGgggacctgctgggcaccaca	15	15	0	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr19:5789320G>A	uc002mdc.2	-	3	895	c.798C>T	c.(796-798)CCC>CCT	p.P266P	DUS3L_uc002mdd.2_Intron|DUS3L_uc010duk.2_5'UTR|DUS3L_uc010xiw.1_RNA	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like isoform 1	266					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0						CCGGCCCTGCGGGGACCTGCT	0.731													A	5789320	G	A	5789320	2	1	87	1	0	0	0	0	0	0	0	1	4807	1103	39	1		1	DUS3L	19	5789320	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08		5789320	53339663	119	57403											
OR7A10	390892	broad.mit.edu	37	chr19	14952325	14952325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgacagatggccacaaacCggtcataggccatcacggtc	12	12	2	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr19:14952325C>T	uc002mzx.1	-	1	365	c.365G>A	c.(364-366)CGG>CAG	p.R122Q		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)					GGCCACAAACCGGTCATAGGC	0.473													T	14952325	C	T	14952325	3	4	87	1	0	0	0	0	1	0	0	0	11214	652	23	1	568	1	OR7A10	19	14952325	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	9163005	14952325	44176658	120	57404											
MAP1S	55201	broad.mit.edu	37	chr19	17837325	17837325	+	Frame_Shift_Del	DEL	C	C	-													cactcagccgcggccccgtgCcagccaaacccaccgtgctc							TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr19:17837325delC	uc002nhe.1	+	5	1141	c.1132delC	c.(1132-1134)CCAfs	p.P378fs	MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Frame_Shift_Del_p.P378fs|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Frame_Shift_Del_p.P352fs	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	378	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						CGGCCCCGTGCCAGCCAAACC	0.736													-	17837325	C	-	17837325	7	5	87	1	0	1	0	1	0	0	0	0	9234	739	26	0	1150	0	MAP1S	19	17837325	Frame_Shift_Del	DEL	C	TCGA-BR-8381-01A-11D-2394-08	2885000	17837325	41291658	121	57405											
JAK3	3718	broad.mit.edu	37	chr19	17951085	17951085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaaagtcctgggggctgCggcggagaacataggagcca	16	9	1	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr19:17951085C>T	uc002nhn.3	-	9	1308	c.1208G>A	c.(1207-1209)CGC>CAC	p.R403H	JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.R403H|JAK3_uc010xpx.1_Missense_Mutation_p.R403H	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	403	SH2; atypical.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						CTGGGGGCTGCGGCGGAGAAC	0.478		2	Mis		acute megakaryocytic leukemia|								T	17951085	C	T	17951085	3	4	87	1	0	0	0	0	1	0	0	0	7939	768	27	1	2230	1	JAK3	19	17951085	Missense_Mutation	SNP	C	TCGA-BR-8381-01A-11D-2394-08	113760	17951085	41177898	122	57406											
MLL4	9757	broad.mit.edu	37	chr19	36210704	36210704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcgagcgccccgaggtcGgggtcgcaagcataagacga	16	11	0	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr19:36210704G>A	uc010eei.2	+	3	455	c.455G>A	c.(454-456)CGG>CAG	p.R152Q		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	152					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCCGAGGTCGGGGTCGCAAG	0.547													A	36210704	G	A	36210704	3	1	87	1	0	0	0	0	1	0	0	0	9623	1116	39	1	465	1	MLL4	19	36210704	Missense_Mutation	SNP	G	TCGA-BR-8381-01A-11D-2394-08	18259619	36210704	22918279	123	57407											
ZFP30	22835	broad.mit.edu	37	chr19	38126845	38126845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgatgtcgactgaggtgGgcacactgtctaaaggcttt	12	9	2	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr19:38126845G>A	uc002ogv.1	-	6	1113	c.597C>T	c.(595-597)GCC>GCT	p.A199A	ZFP30_uc002ogw.1_Silent_p.A199A|ZFP30_uc002ogx.1_Silent_p.A199A|ZFP30_uc010xtt.1_Silent_p.A198A	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	199	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GACTGAGGTGGGCACACTGTC	0.388													A	38126845	G	A	38126845	2	1	87	1	0	0	0	0	0	0	0	1	17641	1219	43	4		4	ZFP30	19	38126845	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08	1916141	38126845	21002138	124	57408											
RRAS	6237	broad.mit.edu	37	chr19	50140101	50140101	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctgccggtcgttaatggcGaacaccagcaggaagccgtg	13	12	1	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr19:50140101G>A	uc002pop.1	-	3	369	c.324C>T	c.(322-324)TTC>TTT	p.F108F		NM_006270	NP_006261	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	108					axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		CGTTAATGGCGAACACCAGCA	0.647													A	50140101	G	A	50140101	2	1	87	1	0	0	0	0	0	0	0	1	13676	1049	37	1		1	RRAS	19	50140101	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08	12013256	50140101	8988882	125	57409											
CHGB	1114	broad.mit.edu	37	chr20	5903072	5903072	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacccagctgatgcctcggaAgcccacgagtcctccagcag	11	16	0	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr20:5903072A>C	uc002wmg.2	+	4	588	c.282A>C	c.(280-282)GAA>GAC	p.E94D	CHGB_uc010zqz.1_Intron	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	94						extracellular region	hormone activity			breast(3)|skin(2)|ovary(1)	6						ATGCCTCGGAAGCCCACGAGT	0.507													C	5903072	A	C	5903072	3	2	87	1	0	0	0	0	1	0	0	0	3339	69	3	5	296	5	CHGB	20	5903072	Missense_Mutation	SNP	A	TCGA-BR-8381-01A-11D-2394-08		5903072	57122448	126	57410											
MCM8	84515	broad.mit.edu	37	chr20	5948582	5948582	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttctgaggatgggtgtaaGcatggaatgttgatggagtt	16	2	1	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr20:5948582G>A	uc002wmi.2	+	10	1511	c.1134G>A	c.(1132-1134)AAG>AAA	p.K378K	MCM8_uc002wmj.2_Silent_p.K362K|MCM8_uc002wmk.2_Silent_p.K378K|MCM8_uc002wml.2_Silent_p.K378K|MCM8_uc010gbp.2_Silent_p.K378K|MCM8_uc002wmm.2_5'Flank	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	378					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1						ATGGGTGTAAGCATGGAATGT	0.348													A	5948582	G	A	5948582	2	1	87	1	0	0	0	0	0	0	0	1	9393	962	34	2		2	MCM8	20	5948582	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08	45510	5948582	57076938	127	57411											
FLRT3	23767	broad.mit.edu	37	chr20	14306206	14306206	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgagtccttcagcatcaTgagtgtgagtgatctgagtc	12	8	3	5			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr20:14306206T>G	uc002wov.1	-	3	2414	c.1947A>C	c.(1945-1947)TCA>TCC	p.S649S	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Silent_p.S649S	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	649	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TTCAGCATCATGAGTGTGAGT	0.423													G	14306206	T	G	14306206	2	3	87	1	0	0	0	0	0	0	0	1	5940	1451	51	5		5	FLRT3	20	14306206	Silent	SNP	T	TCGA-BR-8381-01A-11D-2394-08	8357624	14306206	48719314	128	57412											
LBP	3929	broad.mit.edu	37	chr20	36999964	36999964	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatccaaagttggactattcAatgtaagttgtttttattga	7	4	1	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr20:36999964A>G	uc002xic.1	+	12	1293	c.1258A>G	c.(1258-1260)AAT>GAT	p.N420D		NM_004139	NP_004130	P18428	LBP_HUMAN	lipopolysaccharide-binding protein precursor	420					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.00878)				TGGACTATTCAATGTAAGTTG	0.343													G	36999964	A	G	36999964	3	3	87	1	0	0	0	0	1	0	0	0	8651	130	5	3	1304	3	LBP	20	36999964	Missense_Mutation	SNP	A	TCGA-BR-8381-01A-11D-2394-08	22693758	36999964	26025556	129	57413											
SLC32A1	140679	broad.mit.edu	37	chr20	37353478	37353478	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggttttcaggcggccacGgatgaggaggcggtgggctt	19	7	1	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr20:37353478G>A	uc002xjc.2	+	1	374	c.111G>A	c.(109-111)ACG>ACA	p.T37T		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	37	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AGGCGGCCACGGATGAGGAGG	0.637													A	37353478	G	A	37353478	2	1	87	1	0	0	0	0	0	0	0	1	14565	1103	39	1		1	SLC32A1	20	37353478	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08	353514	37353478	25672042	130	57414											
DIP2A	23181	broad.mit.edu	37	chr21	47918694	47918694	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagtgctgcagccacgccGggggccgccgctaccactgc	13	19	0	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr21:47918694G>A	uc002zjo.2	+	5	786	c.603G>A	c.(601-603)CCG>CCA	p.P201P	DIP2A_uc011afy.1_Silent_p.P137P|DIP2A_uc011afz.1_Silent_p.P201P|DIP2A_uc002zjl.2_Silent_p.P201P|DIP2A_uc002zjm.2_Silent_p.P201P|DIP2A_uc010gql.2_Silent_p.P201P|DIP2A_uc002zjn.2_Silent_p.P201P	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	201					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CAGCCACGCCGGGGGCCGCCG	0.667													A	47918694	G	A	47918694	2	1	87	1	0	0	0	0	0	0	0	1	4527	1103	39	1		1	DIP2A	21	47918694	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08		47918694	211201	131	57415											
EP300	2033	broad.mit.edu	37	chr22	41566511	41566511	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatacccaagcccaagcgacTgcaggaatggtacaaaaaaa	9	10	0	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr22:41566511T>G	uc003azl.3	+	27	4783	c.4388T>G	c.(4387-4389)CTG>CGG	p.L1463R		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1463					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CCCAAGCGACTGCAGGAATGG	0.478			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				G	41566511	T	G	41566511	3	3	87	1	0	0	0	0	1	0	0	0	5148	1580	55	5	4494	5	EP300	22	41566511	Missense_Mutation	SNP	T	TCGA-BR-8381-01A-11D-2394-08		41566511	9738055	132	57416											
PLXNB2	23654	broad.mit.edu	37	chr22	50720370	50720370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacgtactcgaaggccccGgcctctgttctgagcagggc	14	14	2	1			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chr22:50720370G>A	uc003bkv.3	-	20	3364	c.3258C>T	c.(3256-3258)GCC>GCT	p.A1086A	PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Silent_p.A71A	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1086	IPT/TIG 3.|Extracellular (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGAAGGCCCCGGCCTCTGTTC	0.627													A	50720370	G	A	50720370	2	1	87	1	0	0	0	0	0	0	0	1	12124	1103	39	1		1	PLXNB2	22	50720370	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08	9153859	50720370	584196	133	57417											
ASMTL	8623	broad.mit.edu	37	chrX	1522378	1522378	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctccaccagcagcaggccGgcccctgagggagacagcag	14	15	1	2			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chrX:1522378G>A	uc004cpx.1	-	13	1761	c.1650C>T	c.(1648-1650)GCC>GCT	p.A550A	NCRNA00105_uc004cpv.2_RNA|NCRNA00105_uc004cpw.2_RNA|ASMTL_uc011mhe.1_Silent_p.A474A|ASMTL_uc004cpy.1_Silent_p.A534A|ASMTL_uc011mhf.1_Silent_p.A492A	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	550	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCAGCAGGCCGGCCCCTGAGG	0.642													A	1522378	G	A	1522378	2	1	87	1	0	0	0	0	0	0	0	1	1046	1103	39	1		1	ASMTL	23	1522378	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08		1522378	153748182	134	57418											
MXRA5	25878	broad.mit.edu	37	chrX	3227994	3227994	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgcagttcagtttcacGgtgttcccgggccgggtgta	14	11	2	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chrX:3227994G>A	uc004crg.3	-	7	8407	c.8250C>T	c.(8248-8250)ACC>ACT	p.T2750T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2750	Ig-like C2-type 12.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCAGTTTCACGGTGTTCCCGG	0.597													A	3227994	G	A	3227994	2	1	87	1	0	0	0	0	0	0	0	1	10003	1103	39	1		1	MXRA5	23	3227994	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08	1705616	3227994	152042566	135	57419											
CLCN5	1184	broad.mit.edu	37	chrX	49855541	49855541	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcctggttacacacaaCgggtaagaagtcttgagtga	12	8	1	3			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chrX:49855541C>T	uc004dos.1	+	11	2396	c.2148C>T	c.(2146-2148)AAC>AAT	p.N716N	CLCN5_uc004dor.1_Silent_p.N786N|CLCN5_uc004doq.1_Silent_p.N786N|CLCN5_uc004dot.1_Silent_p.N716N	NM_000084	NP_000075	P51795	CLCN5_HUMAN	chloride channel 5 isoform b	716	CBS 2.|Cytoplasmic (By similarity).				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			ovary(2)|lung(1)|central_nervous_system(1)	4	Ovarian(276;0.236)					TTACACACAACGGGTAAGAAG	0.408													T	49855541	C	T	49855541	2	4	87	1	0	0	0	0	0	0	0	1	3466	535	19	1		1	CLCN5	23	49855541	Silent	SNP	C	TCGA-BR-8381-01A-11D-2394-08	46627547	49855541	105415019	136	57420											
COL4A6	1288	broad.mit.edu	37	chrX	107412792	107412792	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgccaattcctggatatccTttttctcctttgggtccagg	8	11	1	0			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chrX:107412792T>C	uc004enw.3	-	37	3730	c.3627A>G	c.(3625-3627)AAA>AAG	p.K1209K	COL4A6_uc004env.3_Silent_p.K1208K|COL4A6_uc011msn.1_Silent_p.K1184K|COL4A6_uc010npk.2_Silent_p.K1184K	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	1209	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						CTGGATATCCTTTTTCTCCTT	0.587									Alport_syndrome_with_Diffuse_Leiomyomatosis				C	107412792	T	C	107412792	2	2	87	1	0	0	0	0	0	0	0	1	3695	1606	56	3		3	COL4A6	23	107412792	Silent	SNP	T	TCGA-BR-8381-01A-11D-2394-08	57557251	107412792	47857768	137	57421											
ZNF280C	55609	broad.mit.edu	37	chrX	129339386	129339386	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaaggcacactagagtaatGcccctatgaaaaaaaagaag	8	7	0	3			TCGA-BR-8381-01A-11D-2394-08	TCGA-BR-8381-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6738c83-7b52-4224-846a-67bd085aaab8	69e6cf8a-eb68-478c-a849-51fb2f8736ac	g.chrX:129339386G>T	uc004evm.2	-	17	2200	c.2046C>A	c.(2044-2046)GGC>GGA	p.G682G		NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	682					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3						CTAGAGTAATGCCCCTATGAA	0.338													T	129339386	G	T	129339386	2	4	87	1	0	0	0	0	0	0	0	1	17813	1306	46	5		5	ZNF280C	23	129339386	Silent	SNP	G	TCGA-BR-8381-01A-11D-2394-08	21926594	129339386	25931174	138	57422											
TTLL10	254173	broad.mit.edu	37	chr1	1118373	1118373	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccggagcatggaggacgAccccatccaccacaagacgc	11	16	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:1118373A>G	uc001acy.2	+	11	1185	c.1034A>G	c.(1033-1035)GAC>GGC	p.D345G	TTLL10_uc010nyg.1_Missense_Mutation_p.D345G|TTLL10_uc001acz.1_Missense_Mutation_p.D272G	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	345	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			large_intestine(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ATGGAGGACGACCCCATCCAC	0.692													G	1118373	A	G	1118373	3	3	88	1	0	0	0	0	1	0	0	0	16720	275	10	3	1064	3	TTLL10	1	1118373	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08		1118373	248132248	1	57423											
CCNL2	81669	broad.mit.edu	37	chr1	1333712	1333712	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagccaggtggacacaggccAttgacacatgctgaagcgga	13	10	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:1333712A>G	uc001afi.2	-	3	406	c.374T>C	c.(373-375)ATG>ACG	p.M125T	CCNL2_uc001afg.1_5'UTR|CCNL2_uc001afh.2_Missense_Mutation_p.M125T|CCNL2_uc001afj.2_Missense_Mutation_p.M125T|CCNL2_uc001afk.2_Missense_Mutation_p.M125T|LOC148413_uc001afm.2_5'Flank|LOC148413_uc001afn.1_5'Flank|LOC148413_uc009vkc.1_5'Flank|LOC148413_uc009vkd.2_5'Flank	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	cyclin L2 isoform A	125	Cyclin-like 1.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GACACAGGCCATTGACACATG	0.552													G	1333712	A	G	1333712	3	3	88	1	0	0	0	0	1	0	0	0	2932	217	8	3	1250	3	CCNL2	1	1333712	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	215339	1333712	247916909	2	57424											
GABRD	2563	broad.mit.edu	37	chr1	1961102	1961102	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctggatctgctatgtcttCgtgtttgccgccctggtgga	12	10	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:1961102C>T	uc001aip.2	+	8	1055	c.960C>T	c.(958-960)TTC>TTT	p.F320F		NM_000815	NP_000806	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	320	Helical; (Probable).					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GCTATGTCTTCGTGTTTGCCG	0.587													T	1961102	C	T	1961102	2	4	88	1	0	0	0	0	0	0	0	1	6169	883	31	1		1	GABRD	1	1961102	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	627390	1961102	247289519	3	57425											
SKI	6497	broad.mit.edu	37	chr1	2235477	2235477	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccagagacgctggcgccCgtggctgccccagaggagga	16	15	0	2	rs150985728	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:2235477C>T	uc001aja.3	+	4	1482	c.1410C>T	c.(1408-1410)CCC>CCT	p.P470P		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	470					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CGCTGGCGCCCGTGGCTGCCC	0.667													T	2235477	C	T	2235477	2	4	88	1	0	0	0	0	0	0	0	1	14357	639	23	1		1	SKI	1	2235477	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	274375	2235477	247015144	4	57426											
PRDM16	63976	broad.mit.edu	37	chr1	3328391	3328391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccccctgaaccacacccagGacgccaagctccccagtccc	7	22	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:3328391G>A	uc001akf.2	+	9	1710	c.1630G>A	c.(1630-1632)GAC>AAC	p.D544N	PRDM16_uc001akc.2_Missense_Mutation_p.D544N|PRDM16_uc001akd.2_Missense_Mutation_p.D544N|PRDM16_uc001ake.2_Missense_Mutation_p.D544N|PRDM16_uc009vlh.2_Missense_Mutation_p.D245N	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	544	Pro-rich.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCACACCCAGGACGCCAAGCT	0.701			T	EVI1	MDS|AML								A	3328391	G	A	3328391	3	1	88	1	0	0	0	0	1	0	0	0	12457	1174	41	4	1664	4	PRDM16	1	3328391	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1092914	3328391	245922230	5	57427											
PRDM16	63976	broad.mit.edu	37	chr1	3328975	3328975	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacttcccccactccctttaCcccttcacggaccgagccct	4	21	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:3328975C>A	uc001akf.2	+	9	2294	c.2214C>A	c.(2212-2214)TAC>TAA	p.Y738*	PRDM16_uc001akc.2_Nonsense_Mutation_p.Y738*|PRDM16_uc001akd.2_Nonsense_Mutation_p.Y738*|PRDM16_uc001ake.2_Nonsense_Mutation_p.Y738*|PRDM16_uc009vlh.2_Nonsense_Mutation_p.Y439*	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	738	Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACTCCCTTTACCCCTTCACGG	0.667			T	EVI1	MDS|AML								A	3328975	C	A	3328975	4	1	88	1	0	0	0	0	0	1	0	0	12457	518	18	5	2248	5	PRDM16	1	3328975	Nonsense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	584	3328975	245921646	6	57428											
CAMTA1	23261	broad.mit.edu	37	chr1	7527916	7527916	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacggctgctatgtccattcCtccatcatccccaccttcca	4	18	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:7527916C>T	uc001aoi.2	+	6	672	c.465C>T	c.(463-465)TCC>TCT	p.S155S		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	155	CG-1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ATGTCCATTCCTCCATCATCC	0.468													T	7527916	C	T	7527916	2	4	88	1	0	0	0	0	0	0	0	1	2613	668	24	4		4	CAMTA1	1	7527916	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	4198941	7527916	241722705	7	57429											
SLC2A5	6518	broad.mit.edu	37	chr1	9099965	9099965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcacggagatgaagcccGcggccttctctgcctcatcc	10	16	3	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:9099965G>A	uc001apo.2	-	7	1071	c.779C>T	c.(778-780)GCG>GTG	p.A260V	SLC2A5_uc010nzy.1_Missense_Mutation_p.A201V|SLC2A5_uc010nzz.1_Missense_Mutation_p.A145V|SLC2A5_uc010oaa.1_Missense_Mutation_p.A216V|SLC2A5_uc010oab.1_Missense_Mutation_p.A260V	NM_003039	NP_003030	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated	260	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			pancreas(2)|ovary(1)	3	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GATGAAGCCCGCGGCCTTCTC	0.677													A	9099965	G	A	9099965	3	1	88	1	0	0	0	0	1	0	0	0	14548	1087	38	1	750	1	SLC2A5	1	9099965	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1572049	9099965	240150656	8	57430											
TMEM201	199953	broad.mit.edu	37	chr1	9656056	9656056	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccactgcgagcagtacaaCggcttccaggaggtgtgggt	14	12	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:9656056C>T	uc001apz.2	+	2	234	c.222C>T	c.(220-222)AAC>AAT	p.N74N	TMEM201_uc001apy.2_Silent_p.N74N	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	transmembrane protein 201 isoform 1	74						integral to membrane|nuclear inner membrane					0	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		AGCAGTACAACGGCTTCCAGG	0.622													T	9656056	C	T	9656056	2	4	88	1	0	0	0	0	0	0	0	1	16123	535	19	1		1	TMEM201	1	9656056	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	556091	9656056	239594565	9	57431											
APITD1	378708	broad.mit.edu	37	chr1	10493999	10493999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagaccattgcggccatttCggagctgactttccgacagt	10	12	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:10493999C>T	uc001are.2	+	2	568	c.152C>T	c.(151-153)TCG>TTG	p.S51L	APITD1_uc001arf.2_Missense_Mutation_p.S51L|APITD1_uc001arg.2_Silent_p.F130F|APITD1_uc001arh.2_Missense_Mutation_p.S12L	NM_199294	NP_954988	Q8N2Z9	CENPS_HUMAN	apoptosis-inducing, TAF9-like domain 1 isoform	51					DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent	chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			ovary(1)	1	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GCGGCCATTTCGGAGCTGACT	0.522													T	10493999	C	T	10493999	3	4	88	1	0	0	0	0	1	0	0	0	775	893	31	1	158	1	APITD1	1	10493999	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	837943	10493999	238756622	10	57432											
CASZ1	54897	broad.mit.edu	37	chr1	10703273	10703273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctccgcatgtgcttccGcgcgtgggaggtcatctggt	13	13	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:10703273G>A	uc001aro.2	-	19	4284	c.3964C>T	c.(3964-3966)CGG>TGG	p.R1322W		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1322	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		ATGTGCTTCCGCGCGTGGGAG	0.642													A	10703273	G	A	10703273	3	1	88	1	0	0	0	0	1	0	0	0	2685	1086	38	1	1327	1	CASZ1	1	10703273	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	209274	10703273	238547348	11	57433											
MTOR	2475	broad.mit.edu	37	chr1	11308061	11308061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgaagggggtaatgtgacGaggttttgttccgaagccca	16	6	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:11308061G>A	uc001asd.2	-	7	1052	c.931C>T	c.(931-933)CGT>TGT	p.R311C		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	311					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						GTAATGTGACGAGGTTTTGTT	0.512													A	11308061	G	A	11308061	3	1	88	1	0	0	0	0	1	0	0	0	9954	1058	37	1	6926	1	MTOR	1	11308061	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	604788	11308061	237942560	12	57434											
MTHFR	4524	broad.mit.edu	37	chr1	11854789	11854789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctgcaggccctcaccagCggccgttagggaactcgtcc	13	15	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:11854789C>T	uc001atc.1	-	7	1347	c.1163G>A	c.(1162-1164)CGC>CAC	p.R388H	MTHFR_uc001atb.1_Missense_Mutation_p.R411H	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	388					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	CCCTCACCAGCGGCCGTTAGG	0.562													T	11854789	C	T	11854789	3	4	88	1	0	0	0	0	1	0	0	0	9931	768	27	1	831	1	MTHFR	1	11854789	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	546728	11854789	237395832	13	57435											
PRDM2	7799	broad.mit.edu	37	chr1	14105788	14105788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactcatactaatatgagaCggcatcagcgtagagttcac	9	9	3	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:14105788C>T	uc001avi.2	+	8	2354	c.1498C>T	c.(1498-1500)CGG>TGG	p.R500W	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.R500W|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.R257W|PRDM2_uc001avk.2_Missense_Mutation_p.R299W|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	500	C2H2-type 3.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TAATATGAGACGGCATCAGCG	0.458													T	14105788	C	T	14105788	3	4	88	1	0	0	0	0	1	0	0	0	12458	527	19	1	1524	1	PRDM2	1	14105788	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2250999	14105788	235144833	14	57436											
TAS1R2	80834	broad.mit.edu	37	chr1	19181096	19181096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccagtgaagttctggcGcagcacctcattgaagaagt	13	10	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:19181096G>A	uc001bba.1	-	3	869	c.868C>T	c.(868-870)CGC>TGC	p.R290C		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	290	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AAGTTCTGGCGCAGCACCTCA	0.632													A	19181096	G	A	19181096	3	1	88	1	0	0	0	0	1	0	0	0	15560	1087	38	1	1667	1	TAS1R2	1	19181096	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	5075308	19181096	230069525	15	57437											
UBR4	23352	broad.mit.edu	37	chr1	19487483	19487483	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgggcttctcttcgtcAgcaacctttccatcactgat	6	13	4	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:19487483A>C	uc001bbi.2	-	38	5338	c.5334T>G	c.(5332-5334)GCT>GCG	p.A1778A	UBR4_uc001bbm.1_Silent_p.A989A	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1778					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTCTTCGTCAGCAACCTTTC	0.547													C	19487483	A	C	19487483	2	2	88	1	0	0	0	0	0	0	0	1	16901	175	7	5		5	UBR4	1	19487483	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	306387	19487483	229763138	16	57438											
AKR7L	246181	broad.mit.edu	37	chr1	19593833	19593833	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattcgtgggcaaacaaatgCcaggcttgattaaaggcgtc	11	9	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:19593833C>A	uc010ocx.1	-	8	957	c.957G>T	c.(955-957)TGG>TGT	p.W319C	AKR7L_uc010ocy.1_3'UTR	NM_201252	NP_957704			aflatoxin B1 aldehyde reductase 3 isoform 1												0						CAAACAAATGCCAGGCTTGAT	0.562													A	19593833	C	A	19593833	3	1	88	1	0	0	0	0	1	0	0	0	477	740	26	5	42	5	AKR7L	1	19593833	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	106350	19593833	229656788	17	57439											
C1QA	712	broad.mit.edu	37	chr1	22965798	22965798	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttcagctgcagcagggTgaccaggtctgggttgaaaa	15	8	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:22965798T>C	uc001bfy.2	+	3	721	c.636T>C	c.(634-636)GGT>GGC	p.G212G	C1QA_uc001bfz.2_Silent_p.G212G	NM_015991	NP_057075	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	212	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGCAGCAGGGTGACCAGGTCT	0.597													C	22965798	T	C	22965798	2	2	88	1	0	0	0	0	0	0	0	1	1954	1683	59	3		3	C1QA	1	22965798	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	3371965	22965798	226284823	18	57440											
ARID1A	8289	broad.mit.edu	37	chr1	27097751	27097751	+	Frame_Shift_Del	DEL	C	C	-													ttgaacggggagaagaccctCccccagacatctttgcagct							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:27097750_27097750TC>T	uc001bmv.1	+	11	3712	c.3339_3339TC>T	c.(3337-3339)cctfs	p.P1113fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.P1113fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.P1113fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.P730fs|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1113					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GAGAAGACCCTCCCCCAGACA	0.542			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27097751	C	-	27097751	7	5	88	1	0	1	0	1	0	0	0	0	913	855	30	0	3386	0	ARID1A	1	27097751	Frame_Shift_Del	DEL	C	TCGA-BR-8382-01A-11D-2394-08	4131953	27097751	222152870	19	57441											
ARID1A	8289	broad.mit.edu	37	chr1	27099909	27099909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgacccctacagtcgtgCtgccggccctgggctaggaa	15	13	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:27099909C>T	uc001bmv.1	+	15	4161	c.3788C>T	c.(3787-3789)GCT>GTT	p.A1263V	ARID1A_uc001bmt.1_Missense_Mutation_p.A1262V|ARID1A_uc001bmu.1_Missense_Mutation_p.A1263V|ARID1A_uc001bmw.1_Missense_Mutation_p.A880V|ARID1A_uc001bmx.1_Missense_Mutation_p.A109V|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1263					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TACAGTCGTGCTGCCGGCCCT	0.602			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								T	27099909	C	T	27099909	3	4	88	1	0	0	0	0	1	0	0	0	913	797	28	2	3846	2	ARID1A	1	27099909	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2158	27099909	222150712	20	57442											
EPB41	2035	broad.mit.edu	37	chr1	29365854	29365854	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggactcaagctcagaccAggcaagctagtgctctaatt	10	12	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:29365854A>G	uc001brm.1	+	10	1559	c.1552A>G	c.(1552-1554)AGG>GGG	p.R518G	EPB41_uc001brg.1_Missense_Mutation_p.R309G|EPB41_uc001brh.1_Missense_Mutation_p.R309G|EPB41_uc001bri.1_Missense_Mutation_p.R483G|EPB41_uc001brj.1_Missense_Mutation_p.R309G|EPB41_uc009vtk.1_Missense_Mutation_p.R483G|EPB41_uc001brk.2_Missense_Mutation_p.R518G|EPB41_uc001brl.1_Missense_Mutation_p.R518G|EPB41_uc009vtl.1_Missense_Mutation_p.R309G|EPB41_uc009vtm.1_Missense_Mutation_p.R151G	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	518	Hydrophilic.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			ovary(1)	1		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AGCTCAGACCAGGCAAGCTAG	0.498													G	29365854	A	G	29365854	3	3	88	1	0	0	0	0	1	0	0	0	5151	179	7	3	1590	3	EPB41	1	29365854	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	2265945	29365854	219884767	21	57443											
ZNF362	149076	broad.mit.edu	37	chr1	33745971	33745971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccgcaaaaagatcaaggCggagaacccggggggtccgc	16	12	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:33745971C>T	uc001bxc.1	+	5	766	c.596C>T	c.(595-597)GCG>GTG	p.A199V		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAGATCAAGGCGGAGAACCCG	0.652													T	33745971	C	T	33745971	3	4	88	1	0	0	0	0	1	0	0	0	17865	768	27	1	610	1	ZNF362	1	33745971	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	4380117	33745971	215504650	22	57444											
C1orf94	84970	broad.mit.edu	37	chr1	34666581	34666581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccaccaagaacccaagCgggcagccgagacttcgaaa	13	13	0	2	rs145466967		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:34666581C>T	uc001bxs.3	+	3	1047	c.648C>T	c.(646-648)AGC>AGT	p.S216S	C1orf94_uc001bxt.2_Silent_p.S406S	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	216							protein binding				0		Myeloproliferative disorder(586;0.0393)				AGAACCCAAGCGGGCAGCCGA	0.587													T	34666581	C	T	34666581	2	4	88	1	0	0	0	0	0	0	0	1	2071	767	27	1		1	C1orf94	1	34666581	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	920610	34666581	214584040	23	57445											
ZMYM4	9202	broad.mit.edu	37	chr1	35825031	35825031	+	Frame_Shift_Del	DEL	T	T	-													gattcaaggttgaaaagcagTttttttgataaagcaggtaa							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:35825030_35825030GT>G	uc001byt.3	+	2	670	c.590_590GT>G	c.(589-591)agtfs	p.S197fs	ZMYM4_uc009vuu.3_Frame_Shift_Del_p.S165fs|ZMYM4_uc001byu.3_Intron|ZMYM4_uc009vuv.3_5'UTR	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	197					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGAAAAGCAGTTTTTTTGAT	0.299													-	35825031	T	-	35825031	7	5	88	1	0	1	0	1	0	0	0	0	17699	1722	60	0	601	0	ZMYM4	1	35825031	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	1158450	35825031	213425590	24	57446											
ZC3H12A	80149	broad.mit.edu	37	chr1	37949047	37949047	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggagcccgtggggcagGgcaggcagcctggccaagga	20	11	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:37949047G>T	uc001cbb.3	+	6	1785	c.1635G>T	c.(1633-1635)AGG>AGT	p.R545S	ZC3H12A_uc001cbc.1_Missense_Mutation_p.R340S	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	545					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGTGGGGCAGGGCAGGCAGCC	0.652													T	37949047	G	T	37949047	3	4	88	1	0	0	0	0	1	0	0	0	17558	1223	43	5	1653	5	ZC3H12A	1	37949047	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2124016	37949047	211301574	25	57447											
GNL2	29889	broad.mit.edu	37	chr1	38034527	38034527	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caatcttctcatccagtgctTtaataacggctttggtgtcg	8	10	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:38034527T>G	uc001cbk.2	-	13	1956	c.1793A>C	c.(1792-1794)AAA>ACA	p.K598T		NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	598					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)				ATCCAGTGCTTTAATAACGGC	0.428													G	38034527	T	G	38034527	3	3	88	1	0	0	0	0	1	0	0	0	6536	1841	64	5	418	5	GNL2	1	38034527	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	85480	38034527	211216094	26	57448											
HYI	81888	broad.mit.edu	37	chr1	43916935	43916935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcctctgggtggccccGcctatcccagtatgaacgta	11	15	1	1	rs142109071		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:43916935G>A	uc001cjo.2	-	8	978	c.808C>T	c.(808-810)CGG>TGG	p.R270W	KIAA0467_uc001cjk.1_3'UTR|KIAA0467_uc001cjl.1_3'UTR|HYI_uc001cjm.2_3'UTR|HYI_uc001cjn.2_3'UTR|HYI_uc001cjp.2_Missense_Mutation_p.R197W	NM_031207	NP_112484	Q5T013	HYI_HUMAN	hydroxypyruvate isomerase homolog	270							hydroxypyruvate isomerase activity			ovary(1)	1	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGTGGCCCCGCCTATCCCAG	0.612													A	43916935	G	A	43916935	3	1	88	1	0	0	0	0	1	0	0	0	7468	1086	38	1	29	1	HYI	1	43916935	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	5882408	43916935	205333686	27	57449											
TESK2	10420	broad.mit.edu	37	chr1	45813321	45813321	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcggagaacctcaggtgccAtccagaatggggaacccacc	11	14	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:45813321A>G	uc001cns.1	-	7	1071	c.668T>C	c.(667-669)ATG>ACG	p.M223T	TESK2_uc009vxr.1_Missense_Mutation_p.M223T|TESK2_uc010olo.1_Missense_Mutation_p.M140T|TESK2_uc009vxs.1_Missense_Mutation_p.M15T	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	testis-specific protein kinase 2	223	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(2)|pancreas(1)	5	Acute lymphoblastic leukemia(166;0.155)					CTCAGGTGCCATCCAGAATGG	0.443													G	45813321	A	G	45813321	3	3	88	1	0	0	0	0	1	0	0	0	15765	217	8	3	1067	3	TESK2	1	45813321	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	1896386	45813321	203437300	28	57450											
LRRC41	10489	broad.mit.edu	37	chr1	46744617	46744617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcaggtagcccggagccGccggatggcttccctggctg	16	13	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:46744617G>A	uc001cpn.2	-	10	2403	c.2359C>T	c.(2359-2361)CGG>TGG	p.R787W		NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	787										ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					GCCCGGAGCCGCCGGATGGCT	0.617													A	46744617	G	A	46744617	3	1	88	1	0	0	0	0	1	0	0	0	8999	1086	38	1	83	1	LRRC41	1	46744617	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	931296	46744617	202506004	29	57451											
SLC5A9	200010	broad.mit.edu	37	chr1	48688549	48688549	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggtcatctactttgtcttCgtcattgctgtggggatctg	12	8	5	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:48688549C>T	uc001cro.2	+	1	193	c.141C>T	c.(139-141)TTC>TTT	p.F47F	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Silent_p.F47F|SLC5A9_uc010omt.1_Silent_p.F40F|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	47	Helical; (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3						ACTTTGTCTTCGTCATTGCTG	0.602													T	48688549	C	T	48688549	2	4	88	1	0	0	0	0	0	0	0	1	14672	883	31	1		1	SLC5A9	1	48688549	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1943932	48688549	200562072	30	57452											
SLC5A9	200010	broad.mit.edu	37	chr1	48701407	48701407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtctctccccaggtctgcGggggctgatgattgccgtga	14	12	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:48701407G>A	uc001cro.2	+	10	1200	c.1148G>A	c.(1147-1149)CGG>CAG	p.R383Q	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.R408Q|SLC5A9_uc010omt.1_Missense_Mutation_p.R397Q|SLC5A9_uc001crp.2_Missense_Mutation_p.R50Q|SLC5A9_uc010omu.1_Missense_Mutation_p.R50Q	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	383	Extracellular (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3						CCAGGTCTGCGGGGGCTGATG	0.582													A	48701407	G	A	48701407	3	1	88	1	0	0	0	0	1	0	0	0	14672	1116	39	1	1265	1	SLC5A9	1	48701407	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	12858	48701407	200549214	31	57453											
SPATA6	54558	broad.mit.edu	37	chr1	48821382	48821382	+	Frame_Shift_Del	DEL	T	T	-													cctgatgtgatttcaagacaTtttttacccggtcatggatc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:48821381_48821381AT>A	uc001crr.2	-	10	1351	c.1155_1155AT>T	c.(1153-1155)aatfs	p.N385fs	SPATA6_uc001crs.2_Intron|SPATA6_uc010omv.2_Frame_Shift_Del_p.N371fs	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	Homo sapiens spermatogenesis associated 6 (SPATA6), mRNA.	385					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ATTTCAAGACATTTTTTACCC	0.303													-	48821382	T	-	48821382	7	5	88	1	0	1	0	1	0	0	0	0	15012	1493	52	0	324	0	SPATA6	1	48821382	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	119975	48821382	200429239	32	57454											
ZCCHC11	23318	broad.mit.edu	37	chr1	52927267	52927267	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggcactttggcagtagttAtaggcaaaatgtttcttaaa	9	5	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:52927267A>G	uc001ctx.2	-	18	3383	c.3149T>C	c.(3148-3150)ATA>ACA	p.I1050T	ZCCHC11_uc001cty.2_Missense_Mutation_p.I1050T|ZCCHC11_uc001ctz.2_Missense_Mutation_p.I1050T|ZCCHC11_uc009vze.1_Missense_Mutation_p.I1050T|ZCCHC11_uc009vzf.1_Missense_Mutation_p.I809T|ZCCHC11_uc001cua.1_5'UTR	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	1050					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						GGCAGTAGTTATAGGCAAAAT	0.269													G	52927267	A	G	52927267	3	3	88	1	0	0	0	0	1	0	0	0	17577	449	16	3	1840	3	ZCCHC11	1	52927267	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	4105885	52927267	196323354	33	57455											
USP24	23358	broad.mit.edu	37	chr1	55559693	55559693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtaagaatagacagccGgtcattgttcggcctatggg	13	8	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:55559693G>A	uc001cyg.3	-	49	5791	c.5791C>T	c.(5791-5793)CGG>TGG	p.R1931W		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	2091					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						ATAGACAGCCGGTCATTGTTC	0.438													A	55559693	G	A	55559693	3	1	88	1	0	0	0	0	1	0	0	0	17052	1115	39	1	1659	1	USP24	1	55559693	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2632426	55559693	193690928	34	57456											
DNAJC6	9829	broad.mit.edu	37	chr1	65852530	65852530	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatggaaaaatcttcattcCcttgaacatcactgtgcaag	7	9	3	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:65852530C>A	uc001dcd.1	+	8	1024	c.860C>A	c.(859-861)CCC>CAC	p.P287H	DNAJC6_uc001dcc.1_Missense_Mutation_p.P318H|DNAJC6_uc010opc.1_Missense_Mutation_p.P274H|DNAJC6_uc001dce.1_Missense_Mutation_p.P344H	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	287	C2 tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						ATCTTCATTCCCTTGAACATC	0.423													A	65852530	C	A	65852530	3	1	88	1	0	0	0	0	1	0	0	0	4653	623	22	5	890	5	DNAJC6	1	65852530	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	10292837	65852530	183398091	35	57457											
MIER1	57708	broad.mit.edu	37	chr1	67411943	67411943	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaaatgatggaaggagaaAcaaacttcagctctgaaata	9	5	2	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:67411943A>G	uc001dde.2	+	4	438	c.304A>G	c.(304-306)ACA>GCA	p.T102A	MIER1_uc001dda.3_3'UTR|MIER1_uc010opf.1_Missense_Mutation_p.T66A|MIER1_uc009way.2_Missense_Mutation_p.T66A|MIER1_uc001ddc.2_Missense_Mutation_p.T102A|MIER1_uc001ddh.2_Intron|MIER1_uc001ddf.2_Missense_Mutation_p.T66A|MIER1_uc001ddg.2_Missense_Mutation_p.T22A|MIER1_uc010opg.1_Missense_Mutation_p.T66A|MIER1_uc001ddj.1_Missense_Mutation_p.T49A|MIER1_uc001ddi.2_Missense_Mutation_p.T49A	NM_001077700	NP_001071168	Q8N108	MIER1_HUMAN	mesoderm induction early response 1 isoform b	73	Glu-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)	1						GGAAGGAGAAACAAACTTCAG	0.373													G	67411943	A	G	67411943	3	3	88	1	0	0	0	0	1	0	0	0	9580	43	2	3	395	3	MIER1	1	67411943	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	1559413	67411943	181838678	36	57458											
LRRC7	57554	broad.mit.edu	37	chr1	70257797	70257797	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaaatctgccaaccacTattgctagtttagttaatct	4	10	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:70257797T>C	uc001dep.2	+	2	291	c.261T>C	c.(259-261)ACT>ACC	p.T87T	LRRC7_uc001deo.1_Silent_p.T125T|LRRC7_uc009wbg.2_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	87	LRR 3.					centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TGCCAACCACTATTGCTAGTT	0.299													C	70257797	T	C	70257797	2	2	88	1	0	0	0	0	0	0	0	1	9020	1509	53	3		3	LRRC7	1	70257797	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	2845854	70257797	178992824	37	57459											
C1orf173	127254	broad.mit.edu	37	chr1	75072496	75072498	+	In_Frame_Del	DEL	CTT	CTT	-													ttcctcactttcccctcagcCttcttcagttcctctccttt							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:75072495_75072497CCTT>C	uc001dgg.3	-	9	1496_1498	c.1277_1279AAGG>G	c.(1276-1281)aaggct>aGct	p.426_427KA>S	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_In_Frame_Del_p.220_221KA>S	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	426	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCCCCTCAGCCTTCTTCAGTTC	0.404													-	75072498	CTT	-	75072496	7	5	88	1	0	1	0	1	0	0	0	0	2014	680	24	0	3334	0	C1orf173	1	75072496	In_Frame_Del	DEL	CTT	TCGA-BR-8382-01A-11D-2394-08	4814699	75072496	174178125	38	57460											
CLCA4	22802	broad.mit.edu	37	chr1	87041015	87041015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttctgttgaaacttttagGtgggcacttgggcatacaat	10	6	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:87041015G>A	uc009wcs.2	+	11	1728	c.1684G>A	c.(1684-1686)GTG>ATG	p.V562M	CLCA4_uc009wct.2_Missense_Mutation_p.V325M|CLCA4_uc009wcu.2_Missense_Mutation_p.V382M	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	562						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AAACTTTTAGGTGGGCACTTG	0.348													A	87041015	G	A	87041015	3	1	88	1	0	0	0	0	1	0	0	0	3459	1275	44	4	1726	4	CLCA4	1	87041015	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	11968519	87041015	162209606	39	57461											
GBP6	163351	broad.mit.edu	37	chr1	89846020	89846020	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttccaaaacggaagtgttTcgtctttgaccggccaacaa	8	11	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:89846020T>C	uc001dnf.2	+	6	975	c.701T>C	c.(700-702)TTC>TCC	p.F234S	GBP6_uc010ost.1_Missense_Mutation_p.F104S	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	234							GTP binding|GTPase activity			ovary(2)	2		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CGGAAGTGTTTCGTCTTTGAC	0.413													C	89846020	T	C	89846020	3	2	88	1	0	0	0	0	1	0	0	0	6278	1783	62	3	719	3	GBP6	1	89846020	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	2805005	89846020	159404601	40	57462											
ZNF644	84146	broad.mit.edu	37	chr1	91405341	91405341	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acactcttcacagcagtagtAccttttatctttttcatggg	6	10	4	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:91405341A>G	uc001dnw.2	-	3	1712	c.1570T>C	c.(1570-1572)TAC>CAC	p.Y524H	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.Y524H	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CAGCAGTAGTACCTTTTATCT	0.428													G	91405341	A	G	91405341	3	3	88	1	0	0	0	0	1	0	0	0	18057	391	14	3	2429	3	ZNF644	1	91405341	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	1559321	91405341	157845280	41	57463											
ABCA4	24	broad.mit.edu	37	chr1	94480230	94480230	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggatgctgggtacatcaTgggaatgaccgcccatctgt	13	9	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:94480230T>C	uc001dqh.2	-	38	5433	c.5329A>G	c.(5329-5331)ATG>GTG	p.M1777V	ABCA4_uc009wdp.1_Missense_Mutation_p.M45V	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	1777	Helical; (Potential).				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGTACATCATGGGAATGACC	0.468													C	94480230	T	C	94480230	3	2	88	1	0	0	0	0	1	0	0	0	34	1464	51	3	1544	3	ABCA4	1	94480230	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	3074889	94480230	154770391	42	57464											
NTNG1	22854	broad.mit.edu	37	chr1	108023366	108023366	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcgaggaggctggcagctgCggctccgactctggccaggg	18	12	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:108023366C>A	uc001dvh.3	+	8	2242	c.1524C>A	c.(1522-1524)TGC>TGA	p.C508*	NTNG1_uc001dvf.3_Nonsense_Mutation_p.C449*|NTNG1_uc010out.1_Nonsense_Mutation_p.C474*|NTNG1_uc001dvc.3_Nonsense_Mutation_p.C407*|NTNG1_uc001dvi.2_Missense_Mutation_p.A76E|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_RNA|NTNG1_uc009wem.2_Silent_p.R71R	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	508					axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CTGGCAGCTGCGGCTCCGACT	0.701													A	108023366	C	A	108023366	4	1	88	1	0	0	0	0	0	1	0	0	10704	776	27	5	1684	5	NTNG1	1	108023366	Nonsense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	13543136	108023366	141227255	43	57465											
AKNAD1	254268	broad.mit.edu	37	chr1	109369927	109369927	+	Splice_Site	DEL	A	A	-													ttctccacgttttgcttcctAaaaaaaggtgcataagatcc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:109369926_109369926TA>T	uc001dwa.3	-	11	2108	c.1839_splice	c.e11-1	p.W613_splice	AKNAD1_uc010ovb.2_Splice_Site_p.W320_splice|AKNAD1_uc001dwb.3_Splice_Site	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	613										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTTGCTTCCTAAAAAAAGGT	0.378													-	109369927	A	-	109369927	8	5	88	1	0	1	0	1	0	0	1	0	464	377	13	0		0	AKNAD1	1	109369927	Splice_Site	DEL	A	TCGA-BR-8382-01A-11D-2394-08	1346561	109369927	139880694	44	57466											
CLCC1	23155	broad.mit.edu	37	chr1	109479918	109479918	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgctccaccatcaggTctataatcaatttcctcctg	4	15	4	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:109479918T>C	uc001dwe.1	-	10	1256	c.1164A>G	c.(1162-1164)AGA>AGG	p.R388R	AKNAD1_uc010ovb.1_Intron|CLCC1_uc001dwf.1_Silent_p.R388R|CLCC1_uc001dwg.1_Silent_p.R338R|CLCC1_uc009wes.1_Silent_p.R267R|CLCC1_uc009wet.1_Silent_p.R203R	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Mid-1-related chloride channel 1 isoform 1	388						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				liver(1)	1		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CACCATCAGGTCTATAATCAA	0.522													C	109479918	T	C	109479918	2	2	88	1	0	0	0	0	0	0	0	1	3460	1664	58	3		3	CLCC1	1	109479918	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	109991	109479918	139770703	45	57467											
SORT1	6272	broad.mit.edu	37	chr1	109888405	109888405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagaggcaaaaaggaaacGtcccccaagaccaaatgagt	9	11	0	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:109888405G>A	uc001dxm.1	-	8	980	c.931C>T	c.(931-933)CGT>TGT	p.R311C	SORT1_uc010ovi.1_Missense_Mutation_p.R174C|SORT1_uc009wfb.2_Missense_Mutation_p.R175C	NM_002959	NP_002950	Q99523	SORT_HUMAN	sortilin 1 preproprotein	311	Extracellular (Potential).				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			ovary(1)	1		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		AAAAGGAAACGTCCCCCAAGA	0.428													A	109888405	G	A	109888405	3	1	88	1	0	0	0	0	1	0	0	0	14935	1145	40	1	1616	1	SORT1	1	109888405	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	408487	109888405	139362216	46	57468											
ATXN7L2	127002	broad.mit.edu	37	chr1	110032674	110032674	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccagcgaagagagtgAggaggaggggacatctgacg	18	8	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:110032674A>G	uc001dxr.2	+	8	1175	c.1160A>G	c.(1159-1161)GAG>GGG	p.E387G	ATXN7L2_uc001dxs.2_Missense_Mutation_p.E14G|ATXN7L2_uc001dxt.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	387										ovary(2)	2		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAAGAGAGTGAGGAGGAGGGG	0.647													G	110032674	A	G	110032674	3	3	88	1	0	0	0	0	1	0	0	0	1217	304	11	3	1190	3	ATXN7L2	1	110032674	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	144269	110032674	139217947	47	57469											
GSTM4	2948	broad.mit.edu	37	chr1	110200420	110200420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agacagaagaggagaagattCgtgtggacattttggagaac	14	4	0	6			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:110200420C>T	uc001dyf.2	+	5	600	c.286C>T	c.(286-288)CGT>TGT	p.R96C	GSTM4_uc001dyg.2_5'UTR|GSTM4_uc009wfj.2_Intron|GSTM4_uc001dyh.2_Missense_Mutation_p.R96C|GSTM2_uc001dyi.2_Intron	NM_000850	NP_000841	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4 isoform 1	96	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GGAGAAGATTCGTGTGGACAT	0.562													T	110200420	C	T	110200420	3	4	88	1	0	0	0	0	1	0	0	0	6840	884	31	1	304	1	GSTM4	1	110200420	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	167746	110200420	139050201	48	57470											
UBL4B	164153	broad.mit.edu	37	chr1	110655253	110655253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagagactggtgtccaggCggctgaaggtgcctgaggag	18	7	0	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:110655253C>T	uc001dzc.2	+	1	192	c.97C>T	c.(97-99)CGG>TGG	p.R33W		NM_203412	NP_981957	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	33	Ubiquitin-like.					cytoplasm				ovary(1)	1		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		GGTGTCCAGGCGGCTGAAGGT	0.592													T	110655253	C	T	110655253	3	4	88	1	0	0	0	0	1	0	0	0	16885	759	27	1	99	1	UBL4B	1	110655253	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	454833	110655253	138595368	49	57471											
SYT6	148281	broad.mit.edu	37	chr1	114641766	114641766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacttgatccatgttttcCgggggaatgtcaaagatgat	11	7	1	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:114641766C>T	uc001eev.2	-	5	1309	c.1059G>A	c.(1057-1059)CCG>CCA	p.P353P	SYT6_uc001eeu.2_5'UTR	NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN	synaptotagmin VI	438	Cytoplasmic (Potential).|C2 2.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATGTTTTCCGGGGGAATGT	0.483													T	114641766	C	T	114641766	2	4	88	1	0	0	0	0	0	0	0	1	15475	639	23	1		1	SYT6	1	114641766	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	3986513	114641766	134608855	50	57472											
ADAM30	11085	broad.mit.edu	37	chr1	120437095	120437096	+	Frame_Shift_Ins	INS	-	-	T													gactgagctattgacgcaatINStttttttaaaacatacccgg							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:120437094_120437095A>AT	uc001eij.3	-	0	2053_2054	c.1865_1866T>AT	c.(1864-1866)aatfs	p.N622fs		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	622	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TATTGACGCAATTTTTTTTAAA	0.446													T	120437096	-	T	120437095	7	5	88	1	0	1	1	0	0	0	0	0	248	1493	52	0	511	0	ADAM30	1	120437095	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	5795329	120437095	128813526	51	57473											
NOTCH2	4853	broad.mit.edu	37	chr1	120465332	120465332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagagctgctgctgcatcCgtgttcttgaagcagtggtc	14	9	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:120465332C>T	uc001eik.2	-	27	5185	c.4929G>A	c.(4927-4929)ACG>ACA	p.T1643T		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1643	Negative regulatory region (NRR).|Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCTGCATCCGTGTTCTTGA	0.542			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				T	120465332	C	T	120465332	2	4	88	1	0	0	0	0	0	0	0	1	10548	639	23	1		1	NOTCH2	1	120465332	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	28237	120465332	128785289	52	57474											
PDE4DIP	9659	broad.mit.edu	37	chr1	144859831	144859831	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttaatggaggaggggctgaGgctggctttgccagcaccgc	17	9	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:144859831G>T	uc001elw.3	-	38	6544	c.6253C>A	c.(6253-6255)CTC>ATC	p.L2085I	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.L1979I|PDE4DIP_uc001elv.3_Missense_Mutation_p.L1092I	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	2085					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAGGGGCTGAGGCTGGCTTTG	0.572			T	PDGFRB	MPD								T	144859831	G	T	144859831	3	4	88	1	0	0	0	0	1	0	0	0	11643	1000	35	5	815	5	PDE4DIP	1	144859831	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	24394499	144859831	104390790	53	57475											
PDE4DIP	9659	broad.mit.edu	37	chr1	144917533	144917533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattggaggagaggacatcgCgcagtctctctaagtcatga	12	9	3	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:144917533C>T	uc001elw.3	-	12	1862	c.1571G>A	c.(1570-1572)CGC>CAC	p.R524H	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R590H|PDE4DIP_uc001emc.1_Missense_Mutation_p.R524H|PDE4DIP_uc001emd.1_Missense_Mutation_p.R524H|PDE4DIP_uc001emb.1_Missense_Mutation_p.R687H|PDE4DIP_uc001eme.1_Missense_Mutation_p.R53H|PDE4DIP_uc001emf.1_Missense_Mutation_p.R311H	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	524	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAGGACATCGCGCAGTCTCTC	0.458			T	PDGFRB	MPD								T	144917533	C	T	144917533	3	4	88	1	0	0	0	0	1	0	0	0	11643	768	27	1	5611	1	PDE4DIP	1	144917533	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	57702	144917533	104333088	54	57476											
ANKRD35	148741	broad.mit.edu	37	chr1	145562653	145562653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatccccccaagtggccGctctggagcaagacctgggg	13	15	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:145562653G>A	uc001eob.1	+	10	2449	c.2341G>A	c.(2341-2343)GCT>ACT	p.A781T	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.A624T	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	781	Potential.									ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCAAGTGGCCGCTCTGGAGCA	0.627													A	145562653	G	A	145562653	3	1	88	1	0	0	0	0	1	0	0	0	664	1087	38	1	2379	1	ANKRD35	1	145562653	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	645120	145562653	103687968	55	57477											
LYSMD1	388695	broad.mit.edu	37	chr1	151134215	151134215	+	Frame_Shift_Del	DEL	T	T	-													aaccattcaagactcacccaTtttccccttttttcagcttc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:151134214_151134214AT>A	uc001ewy.3	-	1	1179	c.543_543AT>T	c.(541-543)aatfs	p.N181fs	SCNM1_uc021oyk.1_Intron|LYSMD1_uc010pcr.2_Frame_Shift_Del_p.N133fs	NM_212551	NP_997716	Q96S90	LYSM1_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 1 (LYSMD1), transcript variant 1, mRNA.	181					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGACTCACCCATTTTCCCCTT	0.458													-	151134215	T	-	151134215	7	5	88	1	0	1	0	1	0	0	0	0	9124	1493	52	0	149	0	LYSMD1	1	151134215	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	5571562	151134215	98116406	56	57478	253	2									
LYSMD1	388695	broad.mit.edu	37	chr1	151134223	151134223	+	Silent	SNP	T	T	C													aagactcacccattttccccTtttttcagcttctgagcagc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:151134223T>C	uc001ewy.2	-	2	1170	c.534A>G	c.(532-534)AAA>AAG	p.K178K	LYSMD1_uc010pcr.1_Silent_p.K130K	NM_212551	NP_997716	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain	178					cell wall macromolecule catabolic process						0	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CATTTTCCCCTTTTTTCAGCT	0.473													C	151134223	T	C	151134223	2	2	88	1	0	0	0	0	0	0	0	1	9124	1606	56	3		3	LYSMD1	1	151134223	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	8	151134223	98116398	57	57479	253	2									
HRNR	388697	broad.mit.edu	37	chr1	152193102	152193102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagactcataatggccacGgctgtaagagtaacttgagc	11	10	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:152193102G>A	uc001ezt.1	-	3	1079	c.1003C>T	c.(1003-1005)CGT>TGT	p.R335C		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	335	3.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAATGGCCACGGCTGTAAGAG	0.582													A	152193102	G	A	152193102	3	1	88	1	0	0	0	0	1	0	0	0	7359	1116	39	1	7553	1	HRNR	1	152193102	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1058879	152193102	97057519	58	57480											
LCE3A	353142	broad.mit.edu	37	chr1	152595541	152595541	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctttgcagggcacttgggCggaggctggcactgctgctg	16	11	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:152595541C>T	uc010pdt.1	-	1	39	c.39G>A	c.(37-39)CCG>CCA	p.P13P		NM_178431	NP_848518	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	13					keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCACTTGGGCGGAGGCTGGC	0.607													T	152595541	C	T	152595541	2	4	88	1	0	0	0	0	0	0	0	1	8669	755	27	1		1	LCE3A	1	152595541	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	402439	152595541	96655080	59	57481											
SLC27A3	11000	broad.mit.edu	37	chr1	153751860	153751860	+	Frame_Shift_Del	DEL	C	C	-													tggcagccctagttctgcgtCccccccacgctttggacctt							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:153751859_153751859TC>T	uc001fcz.3	+	8	1991	c.1926_1926TC>T	c.(1924-1926)cgtfs	p.R642fs	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	642					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TAGTTCTGCGTCCCCCCCACG	0.622													-	153751860	C	-	153751860	7	5	88	1	0	1	0	1	0	0	0	0	14527	855	30	0	1961	0	SLC27A3	1	153751860	Frame_Shift_Del	DEL	C	TCGA-BR-8382-01A-11D-2394-08	1156319	153751860	95498761	60	57482											
TDRD10	126668	broad.mit.edu	37	chr1	154516454	154516454	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagagggtccttcctggtGctgctcctgagggaatgctt	14	11	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:154516454G>A	uc009wow.2	+	9	1357	c.519G>A	c.(517-519)GTG>GTA	p.V173V	TDRD10_uc001ffd.2_Silent_p.V173V|TDRD10_uc001ffe.2_Silent_p.V94V	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	tudor domain containing 10 isoform a	173							nucleotide binding|RNA binding			ovary(1)	1	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTTCCTGGTGCTGCTCCTGA	0.612													A	154516454	G	A	154516454	2	1	88	1	0	0	0	0	0	0	0	1	15728	1306	46	2		2	TDRD10	1	154516454	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	764594	154516454	94734167	61	57483											
PBXIP1	57326	broad.mit.edu	37	chr1	154920759	154920759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggtgggccggcctcccGgccccgccgtctccgcagac	14	19	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:154920759G>A	uc001ffr.2	-	6	552	c.493C>T	c.(493-495)CGG>TGG	p.R165W	PBXIP1_uc001ffs.2_Missense_Mutation_p.R136W|PBXIP1_uc010pep.1_Missense_Mutation_p.R10W	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	165	Poly-Arg.				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	p.R165W(1)		large_intestine(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCGGCCTCCCGGCCCCGCCGT	0.682													A	154920759	G	A	154920759	3	1	88	1	0	0	0	0	1	0	0	0	11496	1115	39	1	1726	1	PBXIP1	1	154920759	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	404305	154920759	94329862	62	57484											
SHC1	6464	broad.mit.edu	37	chr1	154938496	154938496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaccacccactgcttgcCgggccttgtctaggttctgg	11	15	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:154938496C>T	uc001ffv.2	-	10	1531	c.1310G>A	c.(1309-1311)CGG>CAG	p.R437Q	SHC1_uc001ffu.2_5'Flank|SHC1_uc001ffz.1_Missense_Mutation_p.R208Q|SHC1_uc001ffw.2_Missense_Mutation_p.R438Q|SHC1_uc001ffx.2_Missense_Mutation_p.R328Q|SHC1_uc001ffy.2_Missense_Mutation_p.R327Q	NM_183001	NP_892113	P29353	SHC1_HUMAN	SHC-transforming protein 1 isoform 1	437	Pro-rich.|CH1.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(1)|skin(1)	2	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CACTGCTTGCCGGGCCTTGTC	0.577													T	154938496	C	T	154938496	3	4	88	1	0	0	0	0	1	0	0	0	14270	652	23	1	453	1	SHC1	1	154938496	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	17737	154938496	94312125	63	57485											
ZBTB7B	51043	broad.mit.edu	37	chr1	154987334	154987334	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagcttttcactgagggCggtggcggagctgtcatggg	17	7	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:154987334C>T	uc001fgk.3	+	3	356	c.198C>T	c.(196-198)GGC>GGT	p.G66G	ZBTB7B_uc009wpa.2_Silent_p.G66G|ZBTB7B_uc001fgj.3_Silent_p.G100G|ZBTB7B_uc010peq.1_Silent_p.G100G|ZBTB7B_uc001fgl.3_Silent_p.G66G	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	66	BTB.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	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)			TCACTGAGGGCGGTGGCGGAG	0.632													T	154987334	C	T	154987334	2	4	88	1	0	0	0	0	0	0	0	1	17551	755	27	1		1	ZBTB7B	1	154987334	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	48838	154987334	94263287	64	57486											
DCST1	149095	broad.mit.edu	37	chr1	155019720	155019720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagactccatgctagcccGgcttcttcgaaaaaccattg	10	12	1	1	rs138386761		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:155019720G>A	uc001fgn.1	+	14	1640	c.1544G>A	c.(1543-1545)CGG>CAG	p.R515Q	DCST1_uc010pes.1_Missense_Mutation_p.R490Q|uc001fgo.2_Intron	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1 isoform 1	515	Extracellular (Potential).					integral to membrane	zinc ion binding			ovary(1)|skin(1)	2	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ATGCTAGCCCGGCTTCTTCGA	0.532													A	155019720	G	A	155019720	3	1	88	1	0	0	0	0	1	0	0	0	4302	1116	39	1	1594	1	DCST1	1	155019720	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	32386	155019720	94230901	65	57487											
ADAM15	8751	broad.mit.edu	37	chr1	155032817	155032817	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggacccacctgccagtaCaggtatgagcatcacctccc	9	15	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:155032817C>T	uc001fgr.1	+	18	2306	c.2205C>T	c.(2203-2205)TAC>TAT	p.Y735Y	ADAM15_uc001fgq.1_Silent_p.Y420Y|ADAM15_uc010peu.1_Silent_p.Y752Y|ADAM15_uc001fgt.1_Silent_p.Y735Y|ADAM15_uc010pev.1_Silent_p.Y745Y|ADAM15_uc001fgs.1_Silent_p.Y735Y|ADAM15_uc001fgu.1_Silent_p.Y735Y|ADAM15_uc001fgw.1_Silent_p.Y735Y|ADAM15_uc001fgv.1_Silent_p.Y735Y|ADAM15_uc001fgx.1_Silent_p.Y735Y|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_Silent_p.Y26Y	NM_207197	NP_997080	Q13444	ADA15_HUMAN	a disintegrin and metalloproteinase domain 15	735	Cytoplasmic (Potential).				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			central_nervous_system(3)|skin(2)|ovary(1)	6	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTGCCAGTACAGGTATGAGC	0.607													T	155032817	C	T	155032817	2	4	88	1	0	0	0	0	0	0	0	1	237	489	17	4		4	ADAM15	1	155032817	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	13097	155032817	94217804	66	57488											
MEX3A	92312	broad.mit.edu	37	chr1	156046883	156046883	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggggcctcaaagccagAgtccactccgcactcgccga	12	16	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:156046883A>C	uc001fnd.3	-	2	1045	c.1045T>G	c.(1045-1047)TCT>GCT	p.S349A		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	349						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					TCAAAGCCAGAGTCCACTCCG	0.672													C	156046883	A	C	156046883	3	2	88	1	0	0	0	0	1	0	0	0	9509	304	11	5	521	5	MEX3A	1	156046883	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	1014066	156046883	93203738	67	57489											
HAPLN2	60484	broad.mit.edu	37	chr1	156594190	156594190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggccggtaccagttcaatTactacgaggcgaagcaggcg	15	10	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:156594190T>C	uc001fpn.1	+	5	894	c.487T>C	c.(487-489)TAC>CAC	p.Y163H		NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN	brain link protein-1 precursor	163	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCAGTTCAATTACTACGAGGC	0.672													C	156594190	T	C	156594190	3	2	88	1	0	0	0	0	1	0	0	0	6955	1754	61	3	497	3	HAPLN2	1	156594190	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	547307	156594190	92656431	68	57490											
PRCC	5546	broad.mit.edu	37	chr1	156737593	156737593	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgcttacgccagcagcgaTgagagcgagccggatgaggc	16	10	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:156737593T>C	uc001fqa.2	+	1	320	c.30T>C	c.(28-30)GAT>GAC	p.D10D	PRCC_uc001fqb.2_Silent_p.D10D|HDGF_uc009wsf.2_5'Flank	NM_005973	NP_005964	Q92733	PRCC_HUMAN	papillary renal cell carcinoma	10	Mediates interaction with MAD2L2.				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	kidney(25)|central_nervous_system(2)	27	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAGCAGCGATGAGAGCGAGC	0.672			T	TFE3	papillary renal 								C	156737593	T	C	156737593	2	2	88	1	0	0	0	0	0	0	0	1	12447	1461	51	3		3	PRCC	1	156737593	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	143403	156737593	92513028	69	57491											
CD1A	909	broad.mit.edu	37	chr1	158225130	158225130	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtagatacgcccatgaattGcagtttgaatgtgagttcag	11	7	1	4	rs11800924	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:158225130G>T	uc001frt.2	+	2	848	c.315G>T	c.(313-315)TTG>TTT	p.L105F		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	105	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CCCATGAATTGCAGTTTGAAT	0.453													T	158225130	G	T	158225130	3	4	88	1	0	0	0	0	1	0	0	0	2974	1310	46	5	321	5	CD1A	1	158225130	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1487537	158225130	91025491	70	57492											
ATP1A4	480	broad.mit.edu	37	chr1	160124898	160124898	+	Frame_Shift_Del	DEL	C	C	-													gacccaatactgttaccccaCcccccaccactccagaatgg					rs7545350		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:160124897_160124897AC>A	uc001fve.4	+	2	749	c.270_270AC>A	c.(268-270)ccafs	p.P90fs	ATP1A4_uc001fvf.4_Non-coding_Transcript	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	90	Interaction with phosphoinositide-3 kinase (By similarity).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGTTACCCCACCCCCCACCA	0.527													-	160124898	C	-	160124898	7	5	88	1	0	1	0	1	0	0	0	0	1131	507	18	0	281	0	ATP1A4	1	160124898	Frame_Shift_Del	DEL	C	TCGA-BR-8382-01A-11D-2394-08	1899768	160124898	89125723	71	57493											
PEA15	8682	broad.mit.edu	37	chr1	160181415	160181415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacagctcaagtcggcctgCaaggaagacatccccagcga	11	13	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:160181415C>T	uc001fvk.2	+	2	271	c.81C>T	c.(79-81)TGC>TGT	p.C27C	uc001fvj.1_5'Flank|PEA15_uc001fvl.2_Silent_p.C48C|PEA15_uc001fvm.2_Silent_p.C27C	NM_003768	NP_003759	Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	27	DED.				anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import	cytoplasm|microtubule associated complex	protein binding				0	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGTCGGCCTGCAAGGAAGACA	0.557													T	160181415	C	T	160181415	2	4	88	1	0	0	0	0	0	0	0	1	11711	718	25	2		2	PEA15	1	160181415	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	56517	160181415	89069206	72	57494											
C1orf226	400793	broad.mit.edu	37	chr1	162353432	162353432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcacggacctccagcctcGacaatgagggccctcaccca	10	17	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:162353432G>A	uc001gby.2	+	2	950	c.778G>A	c.(778-780)GAC>AAC	p.D260N	C1orf226_uc010pkt.1_Missense_Mutation_p.D303N	NM_001085375	NP_001078844	A1L170	CA226_HUMAN	hypothetical protein LOC400793 isoform 2	260										ovary(1)	1						CTCCAGCCTCGACAATGAGGG	0.587													A	162353432	G	A	162353432	3	1	88	1	0	0	0	0	1	0	0	0	2032	1058	37	1	917	1	C1orf226	1	162353432	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2172017	162353432	86897189	73	57495											
LMX1A	4009	broad.mit.edu	37	chr1	165218652	165218652	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctggcactcacctgagtcTgaggctgctgggctcaccag	12	14	3	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:165218652T>C	uc001gcy.1	-	3	710	c.489A>G	c.(487-489)TCA>TCG	p.S163S	LMX1A_uc001gcz.1_Silent_p.S163S	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	163						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	all_hematologic(923;0.248)					CACCTGAGTCTGAGGCTGCTG	0.607													C	165218652	T	C	165218652	2	2	88	1	0	0	0	0	0	0	0	1	8861	1567	55	3		3	LMX1A	1	165218652	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	2865220	165218652	84031969	74	57496											
POU2F1	5451	broad.mit.edu	37	chr1	167365537	167365537	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtagggtgatgttgggctCgctatggggaaactatatgg	17	4	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:167365537C>T	uc001gec.2	+	11	1095	c.933C>T	c.(931-933)CTC>CTT	p.L311L	POU2F1_uc010plg.1_RNA|POU2F1_uc001ged.2_Silent_p.L309L|POU2F1_uc001gee.2_Silent_p.L311L|POU2F1_uc010plh.1_Silent_p.L248L|POU2F1_uc001gef.2_Silent_p.L323L|POU2F1_uc001geg.2_Silent_p.L209L|POU2F1_uc009wvg.1_5'Flank	NM_002697	NP_002688	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	311	POU-specific.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|skin(2)|breast(1)	5						ATGTTGGGCTCGCTATGGGGA	0.463													T	167365537	C	T	167365537	2	4	88	1	0	0	0	0	0	0	0	1	12271	871	31	1		1	POU2F1	1	167365537	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2146885	167365537	81885084	75	57497											
ADCY10	55811	broad.mit.edu	37	chr1	167865906	167865906	+	Frame_Shift_Del	DEL	G	G	-													aattcatcaaaattaaaattGgggggtggttttaagaagtt					rs35604923		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:167865905_167865905TG>T	uc001ger.3	-	6	965	c.667_667CA>A	c.(667-669)aatfs	p.N223fs	ADCY10_uc010plj.2_Frame_Shift_Del_p.N70fs|ADCY10_uc009wvk.3_Frame_Shift_Del_p.N131fs|ADCY10_uc009wvl.3_Frame_Shift_Del_p.N222fs|ADCY10_uc009wvm.2_Non-coding_Transcript	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	223					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAATTAAAATTGGGGGGTGGT	0.333													-	167865906	G	-	167865906	7	5	88	1	0	1	0	1	0	0	0	0	293	1335	47	0	4274	0	ADCY10	1	167865906	Frame_Shift_Del	DEL	G	TCGA-BR-8382-01A-11D-2394-08	500369	167865906	81384715	76	57498											
FAM5B	57795	broad.mit.edu	37	chr1	177250045	177250045	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgcagatctgtctcaccaAgaacagcaccctggagcctg	9	14	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:177250045A>C	uc001glf.2	+	8	2045	c.1733A>C	c.(1732-1734)AAG>ACG	p.K578T	FAM5B_uc001glg.2_Missense_Mutation_p.K473T	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	578						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						TGTCTCACCAAGAACAGCACC	0.567													C	177250045	A	C	177250045	3	2	88	1	0	0	0	0	1	0	0	0	5593	72	3	5	1759	5	FAM5B	1	177250045	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	9384139	177250045	72000576	77	57499											
SEC16B	89866	broad.mit.edu	37	chr1	177927333	177927333	+	Frame_Shift_Del	DEL	G	G	-													tgcgcaggtgtctccacactGggggggatctctcccgtgag							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:177927332_177927332TG>T	uc001glj.1	-	14	2169	c.1303_1303CA>A	c.(1303-1305)agtfs	p.S435fs	SEC16B_uc001glk.1_Frame_Shift_Del_p.S111fs|SEC16B_uc001glh.1_Frame_Shift_Del_p.S93fs|SEC16B_uc001gli.1_Frame_Shift_Del_p.S434fs|SEC16B_uc009wwz.1_Frame_Shift_Del_p.S93fs|SEC16B_uc001gll.4_Frame_Shift_Del_p.S435fs	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	434					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GTCTCCACACTGGGGGGGATC	0.567													-	177927333	G	-	177927333	7	5	88	1	0	1	0	1	0	0	0	0	13987	1335	47	0	1951	0	SEC16B	1	177927333	Frame_Shift_Del	DEL	G	TCGA-BR-8382-01A-11D-2394-08	677288	177927333	71323288	78	57500											
CEP350	9857	broad.mit.edu	37	chr1	179993662	179993662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcccagtctgctgcatcGtctcgttcatctacttcttc	8	14	5	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:179993662G>A	uc001gnt.2	+	14	3878	c.3495G>A	c.(3493-3495)TCG>TCA	p.S1165S	CEP350_uc009wxl.2_Silent_p.S1164S|CEP350_uc001gnu.2_Silent_p.S998S	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1165	Ser-rich.					centrosome|nucleus|spindle				ovary(4)	4						CTGCTGCATCGTCTCGTTCAT	0.423													A	179993662	G	A	179993662	2	1	88	1	0	0	0	0	0	0	0	1	3254	1132	40	1		1	CEP350	1	179993662	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2066329	179993662	69256959	79	57501											
HMCN1	83872	broad.mit.edu	37	chr1	185897784	185897784	+	Frame_Shift_Del	DEL	T	T	-													gtactggacgggcacagacaTtttttgacgtatcaggtaat							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:185897783_185897783AT>A	uc001grq.1	+	9	1765	c.1536_1536AT>A	c.(1534-1536)acafs	p.T512fs		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	512	Ig-like C2-type 1.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGGCACAGACATTTTTTGACG	0.408													-	185897784	T	-	185897784	7	5	88	1	0	1	0	1	0	0	0	0	7220	1493	52	0	1575	0	HMCN1	1	185897784	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	5904122	185897784	63352837	80	57502											
CFHR2	3080	broad.mit.edu	37	chr1	196918663	196918663	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taagccattttcccaagttcCtacaggggaagttttctatt	7	9	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:196918663C>A	uc001gtq.1	+	2	214	c.137C>A	c.(136-138)CCT>CAT	p.P46H	CFHR2_uc001gtr.1_Intron	NM_005666	NP_005657	P36980	FHR2_HUMAN	H factor (complement)-like 3 precursor	46	Sushi 1.					extracellular region				skin(2)|ovary(1)	3						TCCCAAGTTCCTACAGGGGAA	0.363													A	196918663	C	A	196918663	3	1	88	1	0	0	0	0	1	0	0	0	3285	681	24	5	143	5	CFHR2	1	196918663	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	11020879	196918663	52331958	81	57503											
F13B	2165	broad.mit.edu	37	chr1	197030128	197030128	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccagtagcacattcgtattGtactttgtccttcactttga	7	10	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:197030128G>T	uc001gtt.1	-	4	573	c.529C>A	c.(529-531)CAA>AAA	p.Q177K		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	177	Sushi 3.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						CATTCGTATTGTACTTTGTCC	0.358													T	197030128	G	T	197030128	3	4	88	1	0	0	0	0	1	0	0	0	5341	1386	48	5	1492	5	F13B	1	197030128	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	111465	197030128	52220493	82	57504											
KIF21B	23046	broad.mit.edu	37	chr1	200959409	200959409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggctctcagcctgcagccGctcccgcttcctccgcagtg	12	18	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:200959409G>A	uc001gvs.1	-	20	3204	c.2887C>T	c.(2887-2889)CGG>TGG	p.R963W	KIF21B_uc001gvr.1_Missense_Mutation_p.R963W|KIF21B_uc009wzl.1_Missense_Mutation_p.R963W|KIF21B_uc010ppn.1_Missense_Mutation_p.R963W	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	963	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						GCCTGCAGCCGCTCCCGCTTC	0.612													A	200959409	G	A	200959409	3	1	88	1	0	0	0	0	1	0	0	0	8289	1086	38	1	2047	1	KIF21B	1	200959409	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	3929281	200959409	48291212	83	57505											
LAD1	3898	broad.mit.edu	37	chr1	201356046	201356046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggggccccgctgttccCgactcagtctccggcgaggt	13	17	2	0	rs112179009		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:201356046C>T	uc001gwm.2	-	3	678	c.443G>A	c.(442-444)CGG>CAG	p.R148Q	LAD1_uc009wzu.1_Missense_Mutation_p.R170Q	NM_005558	NP_005549	O00515	LAD1_HUMAN	ladinin 1	148						basement membrane	structural molecule activity				0						CCGCTGTTCCCGACTCAGTCT	0.612													T	201356046	C	T	201356046	3	4	88	1	0	0	0	0	1	0	0	0	8599	652	23	1	1142	1	LAD1	1	201356046	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	396637	201356046	47894575	84	57506											
PLEKHA6	22874	broad.mit.edu	37	chr1	204228512	204228512	+	Frame_Shift_Del	DEL	C	C	-													gtgggaaactccgccggtgtCccccagtctctccatcctga							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:204228511_204228511TC>T	uc001hau.3	-	7	1199	c.882_882GA>A	c.(880-882)ggafs	p.G294fs	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	294	Pro-rich.							p.G293W(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TCCGCCGGTGTCCCCCAGTCT	0.642													-	204228512	C	-	204228512	7	5	88	1	0	1	0	1	0	0	0	0	12060	855	30	0	2325	0	PLEKHA6	1	204228512	Frame_Shift_Del	DEL	C	TCGA-BR-8382-01A-11D-2394-08	2872466	204228512	45022109	85	57507											
NFASC	23114	broad.mit.edu	37	chr1	204943372	204943372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattctttacaaccggacgCggctggactgccctttcttt	9	12	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:204943372C>T	uc001hbj.2	+	13	1673	c.1345C>T	c.(1345-1347)CGG>TGG	p.R449W	NFASC_uc001hbh.2_Missense_Mutation_p.R449W|NFASC_uc010pqz.1_Missense_Mutation_p.R443W|NFASC_uc010pra.1_Missense_Mutation_p.R460W|NFASC_uc001hbi.2_Missense_Mutation_p.R460W|NFASC_uc009xbg.1_Missense_Mutation_p.R533W|NFASC_uc010prb.1_Missense_Mutation_p.R460W|NFASC_uc010prc.1_5'UTR|NFASC_uc001hbk.1_Missense_Mutation_p.R270W	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	449	Extracellular (Potential).|Ig-like C2-type 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAACCGGACGCGGCTGGACTG	0.562													T	204943372	C	T	204943372	3	4	88	1	0	0	0	0	1	0	0	0	10359	759	27	1	1442	1	NFASC	1	204943372	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	714860	204943372	44307249	86	57508											
PIGR	5284	broad.mit.edu	37	chr1	207107940	207107940	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccttgctggggccttcGtcttggctgggcagggcctg	17	11	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:207107940G>A	uc001hez.2	-	6	1714	c.1530C>T	c.(1528-1530)GAC>GAT	p.D510D	PIGR_uc009xbz.2_Silent_p.D510D	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	510	Ig-like V-type 5.|Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3						TGGGGCCTTCGTCTTGGCTGG	0.577													A	207107940	G	A	207107940	2	1	88	1	0	0	0	0	0	0	0	1	11897	1136	40	1		1	PIGR	1	207107940	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2164568	207107940	42142681	87	57509											
CR2	1380	broad.mit.edu	37	chr1	207642044	207642044	+	Frame_Shift_Del	DEL	C	C	-													tcgggaaaatggagtgctgtCccccccacatgtgaaggtac							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:207642043_207642043TC>T	uc001hfw.3	+	2	736	c.617_617TC>T	c.(616-618)gtcfs	p.V206fs	CR2_uc001hfv.3_Frame_Shift_Del_p.V206fs|CR2_uc009xch.3_Frame_Shift_Del_p.V206fs|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACA	0.393													-	207642044	C	-	207642044	7	5	88	1	0	1	0	1	0	0	0	0	3842	842	30	0	628	0	CR2	1	207642044	Frame_Shift_Del	DEL	C	TCGA-BR-8382-01A-11D-2394-08	534104	207642044	41608577	88	57510											
CR1	1378	broad.mit.edu	37	chr1	207679348	207679348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatctgaactatgaatgccGccctggttattccggaagac	9	10	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:207679348G>A	uc001hfy.2	+	2	361	c.221G>A	c.(220-222)CGC>CAC	p.R74H	CR1_uc009xcl.1_Missense_Mutation_p.R74H|CR1_uc001hfx.2_Missense_Mutation_p.R74H|CR1_uc010psg.1_Missense_Mutation_p.R74H|CR1_uc009xcj.1_Missense_Mutation_p.R74H|CR1_uc009xck.1_Missense_Mutation_p.R74H	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	74	Sushi 1.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TATGAATGCCGCCCTGGTTAT	0.478													A	207679348	G	A	207679348	3	1	88	1	0	0	0	0	1	0	0	0	3840	1087	38	1	227	1	CR1	1	207679348	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	37304	207679348	41571273	89	57511											
RPS6KC1	26750	broad.mit.edu	37	chr1	213303055	213303055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcaaaacagaagaagaaCgggaaagtcgtagcctcttt	11	7	1	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:213303055C>T	uc010ptr.1	+	6	817	c.658C>T	c.(658-660)CGG>TGG	p.R220W	RPS6KC1_uc001hkd.2_Missense_Mutation_p.R208W|RPS6KC1_uc010pts.1_Missense_Mutation_p.R39W|RPS6KC1_uc010ptt.1_Missense_Mutation_p.R39W|RPS6KC1_uc010ptu.1_Missense_Mutation_p.R39W|RPS6KC1_uc010ptv.1_Translation_Start_Site|RPS6KC1_uc001hke.2_Missense_Mutation_p.R39W	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	220					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AGAAGAAGAACGGGAAAGTCG	0.413													T	213303055	C	T	213303055	3	4	88	1	0	0	0	0	1	0	0	0	13658	527	19	1	680	1	RPS6KC1	1	213303055	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	5623707	213303055	35947566	90	57512											
USH2A	7399	broad.mit.edu	37	chr1	216062163	216062163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctgggactctggtgaaaGggaacatccttttgaagtgc	13	7	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:216062163G>A	uc001hku.1	-	41	8215	c.7828C>T	c.(7828-7830)CTT>TTT	p.L2610F		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2610	Fibronectin type-III 12.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTGGTGAAAGGGAACATCCT	0.473										HNSCC(13;0.011)			A	216062163	G	A	216062163	3	1	88	1	0	0	0	0	1	0	0	0	17033	1000	35	4	7908	4	USH2A	1	216062163	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2759108	216062163	33188458	91	57513											
TP53BP2	7159	broad.mit.edu	37	chr1	223991931	223991931	+	Frame_Shift_Del	DEL	T	T	-													tggcctttaagtgctctcacTttttttagcttagcttcctg					rs146703239		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:223991930_223991930CT>C	uc001hod.3	-	6	1019	c.208_208AG>G	c.(208-210)gtgfs	p.V70fs	TP53BP2_uc010pvb.2_Frame_Shift_Del_p.V199fs|TP53BP2_uc010pva.2_5'Flank	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	193					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AGTGCTCTCACTTTTTTTAGC	0.378													-	223991931	T	-	223991931	7	5	88	1	0	1	0	1	0	0	0	0	16381	1606	56	0	2862	0	TP53BP2	1	223991931	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	7929768	223991931	25258690	92	57514											
TP53BP2	7159	broad.mit.edu	37	chr1	224009062	224009062	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttactgagatacacggtaAgaaacatctaaaaattaaga	7	5	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:224009062A>G	uc010pvb.1	-	2	327	c.35T>C	c.(34-36)CTT>CCT	p.L12P	TP53BP2_uc001hod.2_5'UTR	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	6					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		ATACACGGTAAGAAACATCTA	0.408													G	224009062	A	G	224009062	3	3	88	1	0	0	0	0	1	0	0	0	16381	72	3	3	3437	3	TP53BP2	1	224009062	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	17131	224009062	25241559	93	57515											
TMEM63A	9725	broad.mit.edu	37	chr1	226034781	226034788	+	Frame_Shift_Del	DEL	CTCTGCGC	CTCTGCGC	-													cagccacactgcccgtggcgCtctgcgccaagcactgtcca					rs145042946		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:226034780_226034787GCTCTGCGC>G	uc001hpm.2	-	23	3000_3007	c.2378_2385GCGCAGAGC>C	c.(2377-2385)gcgcagagcfs	p.A793fs		NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	793						integral to membrane|lysosomal membrane	nucleotide binding	p.Q794*(4)|p.L792L(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TGCCCGTGGCGCTCTGCGCCAAGCACTG	0.659													-	226034788	CTCTGCGC	-	226034781	7	5	88	1	0	1	0	1	0	0	0	0	16187	797	28	0	43	0	TMEM63A	1	226034781	Frame_Shift_Del	DEL	CTCTGCGC	TCGA-BR-8382-01A-11D-2394-08	2025719	226034781	23215840	94	57516											
CDC42BPA	8476	broad.mit.edu	37	chr1	227348245	227348245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatttatctttatttaccGttccatcttccatcagcttc	4	11	3	0	rs34614709	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:227348245G>A	uc001hqr.2	-	6	1635	c.692C>T	c.(691-693)ACG>ATG	p.T231M	CDC42BPA_uc001hqs.2_Missense_Mutation_p.T231M|CDC42BPA_uc009xes.2_Missense_Mutation_p.T231M|CDC42BPA_uc010pvs.1_Missense_Mutation_p.T231M	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	231	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				TTTATTTACCGTTCCATCTTC	0.318													A	227348245	G	A	227348245	3	1	88	1	0	0	0	0	1	0	0	0	3072	1159	40	1	4591	1	CDC42BPA	1	227348245	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1313464	227348245	21902376	95	57517											
KIAA1383	54627	broad.mit.edu	37	chr1	232942219	232942219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcttctcctgaaaaaaagCgtgtaaatcccccagcacac	6	13	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:232942219C>T	uc001hvh.2	+	1	1582	c.1450C>T	c.(1450-1452)CGT>TGT	p.R484C		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	hypothetical protein LOC54627	342										ovary(1)	1		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				TGAAAAAAAGCGTGTAAATCC	0.453													T	232942219	C	T	232942219	3	4	88	1	0	0	0	0	1	0	0	0	8228	768	27	1	1452	1	KIAA1383	1	232942219	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	5593974	232942219	16308402	96	57518											
PCNXL2	80003	broad.mit.edu	37	chr1	233388424	233388424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgagtgcatgcggggcCggtgctagtatggtcttgac	17	8	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:233388424C>T	uc001hvl.2	-	6	2180	c.1945G>A	c.(1945-1947)GGC>AGC	p.G649S	PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA|PCNXL2_uc001hvq.1_5'UTR	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	649						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				CATGCGGGGCCGGTGCTAGTA	0.443													T	233388424	C	T	233388424	3	4	88	1	0	0	0	0	1	0	0	0	11592	652	23	1	4584	1	PCNXL2	1	233388424	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	446205	233388424	15862197	97	57519											
RYR2	6262	broad.mit.edu	37	chr1	237608789	237608789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcacagcccgagttatccGgagcacagtcttccttttca	8	14	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:237608789G>A	uc001hyl.1	+	14	1379	c.1259G>A	c.(1258-1260)CGG>CAG	p.R420Q		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	420	Cytoplasmic (By similarity).		R -> W (in CPVT1).		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGAGTTATCCGGAGCACAGTC	0.388													A	237608789	G	A	237608789	3	1	88	1	0	0	0	0	1	0	0	0	13769	1116	39	1	1313	1	RYR2	1	237608789	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	4220365	237608789	11641832	98	57520											
GREM2	64388	broad.mit.edu	37	chr1	240656607	240656613	+	Frame_Shift_Del	DEL	GGCTGGA	GGCTGGA	-													ggtgaccaccagggcctcctGgctggaggccagcacctcct							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:240656606_240656612TGGCTGGA>T	uc021plf.1	-	0	164_170	c.164_170TCCAGCCA>A	c.(163-171)tccagccagfs	p.S55fs	GREM2_uc001hys.3_Frame_Shift_Del_p.S55fs	NM_022469	NP_071914	Q9H772	GREM2_HUMAN	Homo sapiens gremlin 2 (GREM2), mRNA.	55					BMP signaling pathway	extracellular space	cytokine activity	p.A54D(1)		endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CAGGGCCTCCTGGCTGGAGGCCAGCAC	0.671													-	240656613	GGCTGGA	-	240656607	7	5	88	1	0	1	0	1	0	0	0	0	6762	1357	47	0	341	0	GREM2	1	240656607	Frame_Shift_Del	DEL	GGCTGGA	TCGA-BR-8382-01A-11D-2394-08	3047818	240656607	8594014	99	57521											
KIF26B	55083	broad.mit.edu	37	chr1	245861420	245861420	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcaggttctcagagacGgaggcttatcccagcactat	9	13	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:245861420G>T	uc001ibf.1	+	13	6277	c.5837G>T	c.(5836-5838)CGG>CTG	p.R1946L		NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1946					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCTCAGAGACGGAGGCTTATC	0.453													T	245861420	G	T	245861420	3	4	88	1	0	0	0	0	1	0	0	0	8295	1116	39	5	5887	5	KIF26B	1	245861420	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	5204813	245861420	3389201	100	57522											
C1orf150	148823	broad.mit.edu	37	chr1	247719754	247719754	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaagaaaggaaacccagaTgaggaaagaaaacggtaaga	11	7	0	5			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:247719754T>C	uc001idf.2	+	2	120	c.75T>C	c.(73-75)GAT>GAC	p.D25D	C1orf150_uc009xgw.2_RNA|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	hypothetical protein LOC148823	25											0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GAAACCCAGATGAGGAAAGAA	0.358													C	247719754	T	C	247719754	2	2	88	1	0	0	0	0	0	0	0	1	2004	1461	51	3		3	C1orf150	1	247719754	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	1858334	247719754	1530867	101	57523											
OR2L13	284521	broad.mit.edu	37	chr1	248262815	248262815	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtaactcggccatgattcaCctcatccacgtggatcctcg	9	14	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:248262815C>T	uc001ids.2	+	3	475	c.138C>T	c.(136-138)CAC>CAT	p.H46H		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	46	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCATGATTCACCTCATCCACG	0.502													T	248262815	C	T	248262815	2	4	88	1	0	0	0	0	0	0	0	1	11006	506	18	4		4	OR2L13	1	248262815	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	543061	248262815	987806	102	57524											
OR2T4	127074	broad.mit.edu	37	chr1	248525518	248525518	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attcatcatttcttctgtgaAgttcctgctgtattgaatct	6	8	5	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:248525518A>C	uc001ieh.1	+	1	636	c.636A>C	c.(634-636)GAA>GAC	p.E212D		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	212	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTTCTGTGAAGTTCCTGCTG	0.502													C	248525518	A	C	248525518	3	2	88	1	0	0	0	0	1	0	0	0	11027	69	3	5	638	5	OR2T4	1	248525518	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	262703	248525518	725103	103	57525											
TPO	7173	broad.mit.edu	37	chr2	1457590	1457590	+	Frame_Shift_Del	DEL	C	C	-													tgtacaacgggttcccactgCccccggtgggtactcagaac							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:1457589_1457589GC>G	uc002qwr.3	+	5	692	c.606_606GC>G	c.(604-606)ctgfs	p.L202fs	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Frame_Shift_Del_p.L202fs|TPO_uc002qwx.3_Frame_Shift_Del_p.L202fs|TPO_uc002qwu.3_Frame_Shift_Del_p.L202fs|TPO_uc010yio.2_Frame_Shift_Del_p.L202fs|TPO_uc010yip.2_Frame_Shift_Del_p.L202fs	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	202					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGTTCCCACTGCCCCCGGTGG	0.587													-	1457590	C	-	1457590	7	5	88	1	0	1	0	1	0	0	0	0	16407	739	26	0	625	0	TPO	2	1457590	Frame_Shift_Del	DEL	C	TCGA-BR-8382-01A-11D-2394-08		1457590	241741783	104	57526											
TPO	7173	broad.mit.edu	37	chr2	1507748	1507748	+	Frame_Shift_Del	DEL	C	C	-													gagtgtgcagacggtgcccaCcccccctgccacgcctctgc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:1507747_1507747AC>A	uc002qwr.3	+	13	2500	c.2414_2414AC>A	c.(2413-2415)cacfs	p.H805fs	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Frame_Shift_Del_p.H805fs|TPO_uc002qwx.3_Frame_Shift_Del_p.H748fs|TPO_uc002qwu.3_Frame_Shift_Del_p.H748fs|TPO_uc010yio.2_Frame_Shift_Del_p.H632fs|TPO_uc010yip.2_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	805	EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.H805L(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACGGTGCCCACCCCCCCTGC	0.642													-	1507748	C	-	1507748	7	5	88	1	0	1	0	1	0	0	0	0	16407	506	18	0	2465	0	TPO	2	1507748	Frame_Shift_Del	DEL	C	TCGA-BR-8382-01A-11D-2394-08	50158	1507748	241691625	105	57527											
PQLC3	130814	broad.mit.edu	37	chr2	11312071	11312071	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctatgtactttcatcagCgcggccagtaagtttgcaca	8	10	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:11312071C>T	uc002rbc.2	+	5	508	c.375C>T	c.(373-375)AGC>AGT	p.S125S	PQLC3_uc010yjk.1_Silent_p.S125S	NM_152391	NP_689604	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3 precursor	125						integral to membrane					0	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		CTTTCATCAGCGCGGCCAGTA	0.398													T	11312071	C	T	11312071	2	4	88	1	0	0	0	0	0	0	0	1	12420	767	27	1		1	PQLC3	2	11312071	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	9804323	11312071	231887302	106	57528											
OTOF	9381	broad.mit.edu	37	chr2	26684616	26684616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccagatctgcagggtgagCcgcgcggggatcttgtactc	14	12	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:26684616C>T	uc002rhk.2	-	43	5608	c.5481G>A	c.(5479-5481)CGG>CGA	p.R1827R	OTOF_uc010yla.1_Silent_p.R557R|OTOF_uc002rhh.2_Silent_p.R1060R|OTOF_uc002rhi.2_Silent_p.R1137R|OTOF_uc002rhj.2_Silent_p.R1060R	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1827	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGGGTGAGCCGCGCGGGGA	0.597													T	26684616	C	T	26684616	2	4	88	1	0	0	0	0	0	0	0	1	11303	726	26	2		2	OTOF	2	26684616	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	15372545	26684616	216514757	107	57529											
DPYSL5	56896	broad.mit.edu	37	chr2	27157457	27157457	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttccagggaaggttgtgCtggcggagaccaccactgca	13	11	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:27157457C>T	uc002rhu.3	+	8	960	c.802C>T	c.(802-804)CTG>TTG	p.L268L	DPYSL5_uc002rhv.3_Silent_p.L268L	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	268					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGGTTGTGCTGGCGGAGAC	0.448													T	27157457	C	T	27157457	2	4	88	1	0	0	0	0	0	0	0	1	4750	796	28	2		2	DPYSL5	2	27157457	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	472841	27157457	216041916	108	57530											
C2orf16	84226	broad.mit.edu	37	chr2	27804551	27804551	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctcagaggagccatcgtggTccctctgagagaagacatca	11	11	3	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:27804551T>A	uc002rkz.3	+	1	5163	c.5112T>A	c.(5110-5112)GGT>GGA	p.G1704G	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1704	9.|27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					GCCATCGTGGTCCCTCTGAGA	0.592													A	27804551	T	A	27804551	2	1	88	1	0	0	0	0	0	0	0	1	2157	1654	58	5		5	C2orf16	2	27804551	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	647094	27804551	215394822	109	57531											
LTBP1	4052	broad.mit.edu	37	chr2	33567940	33567940	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaacaacactgtttgtgacAgtcacgggttttgtgacaat	9	7	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:33567940A>C	uc002ros.2	+	25	3769	c.3769A>C	c.(3769-3771)AGT>CGT	p.S1257R	LTBP1_uc002rot.2_Missense_Mutation_p.S931R|LTBP1_uc002rou.2_Missense_Mutation_p.S930R|LTBP1_uc002rov.2_Missense_Mutation_p.S877R|LTBP1_uc010ymz.1_Intron|LTBP1_uc010yna.1_Intron|LTBP1_uc010ynb.1_Intron	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1256	EGF-like 13; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGTTTGTGACAGTCACGGGTT	0.443													C	33567940	A	C	33567940	3	2	88	1	0	0	0	0	1	0	0	0	9073	188	7	5	3919	5	LTBP1	2	33567940	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	5763389	33567940	209631433	110	57532											
LTBP1	4052	broad.mit.edu	37	chr2	33588554	33588554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctactgtaagcaagggacGtactatgatcctgtgaaact	10	8	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:33588554G>A	uc002ros.2	+	29	4371	c.4371G>A	c.(4369-4371)ACG>ACA	p.T1457T	LTBP1_uc002rot.2_Silent_p.T1131T|LTBP1_uc002rou.2_Silent_p.T1130T|LTBP1_uc002rov.2_Silent_p.T1077T|LTBP1_uc010ymz.1_Silent_p.T1088T|LTBP1_uc010yna.1_Silent_p.T1035T|LTBP1_uc010ynb.1_Silent_p.T354T	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1456	EGF-like 15; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGCAAGGGACGTACTATGATC	0.393													A	33588554	G	A	33588554	2	1	88	1	0	0	0	0	0	0	0	1	9073	1132	40	1		1	LTBP1	2	33588554	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	20614	33588554	209610819	111	57533											
CEBPZ	10153	broad.mit.edu	37	chr2	37430154	37430154	+	Splice_Site	DEL	A	A	-													ttttcttttttcttggccctAaaaaaaattgtaagtctaca							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:37430153_37430153TA>T	uc002rpz.3	-	14	2915	c.2885_splice	c.e14-1	p.G962_splice	LOC100505876_uc002rpy.2_3'UTR|LOC100505876_uc002rpx.2_3'UTR	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	962					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTCTTGGCCCTAAAAAAAATT	0.269													-	37430154	A	-	37430154	8	5	88	1	0	1	0	1	0	0	1	0	3204	377	13	0		0	CEBPZ	2	37430154	Splice_Site	DEL	A	TCGA-BR-8382-01A-11D-2394-08	3841600	37430154	205769219	112	57534											
TSPYL6	388951	broad.mit.edu	37	chr2	54482990	54482990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcagcgaggcagaggccGcttctaggccctccgcgggt	15	13	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:54482990G>A	uc002rxr.2	-	1	420	c.299C>T	c.(298-300)GCG>GTG	p.A100V	ACYP2_uc002rxq.3_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	TSPY-like 6	100					nucleosome assembly	nucleus					0						GGCAGAGGCCGCTTCTAGGCC	0.607													A	54482990	G	A	54482990	3	1	88	1	0	0	0	0	1	0	0	0	16660	1087	38	1	937	1	TSPYL6	2	54482990	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	17052836	54482990	188716383	113	57535											
MCEE	84693	broad.mit.edu	37	chr2	71351665	71351665	+	Frame_Shift_Del	DEL	A	A	-													aatgggagcttgaagtctggAaaaaagccctgaaaaattga							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:71351664_71351664GA>G	uc002shs.2	-	1	95	c.50_50TC>C	c.(49-51)tccfs	p.S17fs		NM_032601	NP_115990	Q96PE7	MCEE_HUMAN	Homo sapiens methylmalonyl CoA epimerase (MCEE), mRNA.	17					L-methylmalonyl-CoA metabolic process|fatty acid beta-oxidation	mitochondrial matrix	methylmalonyl-CoA epimerase activity			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TTGAAGTCTGGAAAAAAGCCC	0.393													-	71351665	A	-	71351665	7	5	88	1	0	1	0	1	0	0	0	0	9377	246	9	0	489	0	MCEE	2	71351665	Frame_Shift_Del	DEL	A	TCGA-BR-8382-01A-11D-2394-08	16868675	71351665	171847708	114	57536											
MPHOSPH10	10199	broad.mit.edu	37	chr2	71361861	71361861	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgcggaaactgaagatacAggtgttttaaatgtaaagaa	11	3	0	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:71361861A>G	uc002sht.1	+	4	1384	c.1032A>G	c.(1030-1032)ACA>ACG	p.T344T	MPHOSPH10_uc010feb.1_Silent_p.T344T	NM_005791	NP_005782	O00566	MPP10_HUMAN	M-phase phosphoprotein 10	344					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			skin(2)|ovary(1)	3						CTGAAGATACAGGTGTTTTAA	0.294													G	71361861	A	G	71361861	2	3	88	1	0	0	0	0	0	0	0	1	9725	175	7	3		3	MPHOSPH10	2	71361861	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	10196	71361861	171837512	115	57537											
DYSF	8291	broad.mit.edu	37	chr2	71795404	71795404	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcaagatcaagctacccaagGacagcttccgcccctcggcc	9	17	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:71795404G>T	uc002sie.2	+	26	3122	c.2746G>T	c.(2746-2748)GAC>TAC	p.D916Y	DYSF_uc010feg.2_Missense_Mutation_p.D947Y|DYSF_uc010feh.2_Missense_Mutation_p.D902Y|DYSF_uc002sig.3_Missense_Mutation_p.D902Y|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.D916Y|DYSF_uc010fef.2_Missense_Mutation_p.D933Y|DYSF_uc010fei.2_Missense_Mutation_p.D933Y|DYSF_uc010fek.2_Missense_Mutation_p.D934Y|DYSF_uc010fej.2_Missense_Mutation_p.D903Y|DYSF_uc010fel.2_Missense_Mutation_p.D903Y|DYSF_uc010feo.2_Missense_Mutation_p.D948Y|DYSF_uc010fem.2_Missense_Mutation_p.D917Y|DYSF_uc010fen.2_Missense_Mutation_p.D934Y|DYSF_uc002sif.2_Missense_Mutation_p.D917Y	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	916	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GCTACCCAAGGACAGCTTCCG	0.617													T	71795404	G	T	71795404	3	4	88	1	0	0	0	0	1	0	0	0	4859	1174	41	5	3040	5	DYSF	2	71795404	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	433543	71795404	171403969	116	57538											
DYSF	8291	broad.mit.edu	37	chr2	71909668	71909668	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcgcttccaggcgccccgAcacctccttcctgtggttta	8	17	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:71909668A>G	uc002sie.2	+	54	6441	c.6065A>G	c.(6064-6066)GAC>GGC	p.D2022G	DYSF_uc010feg.2_Missense_Mutation_p.D2053G|DYSF_uc010feh.2_Missense_Mutation_p.D2029G|DYSF_uc002sig.3_Missense_Mutation_p.D2008G|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.D2043G|DYSF_uc010fef.2_Missense_Mutation_p.D2060G|DYSF_uc010fei.2_Missense_Mutation_p.D2039G|DYSF_uc010fek.2_Missense_Mutation_p.D2040G|DYSF_uc010fej.2_Missense_Mutation_p.D2030G|DYSF_uc010fel.2_Missense_Mutation_p.D2009G|DYSF_uc010feo.2_Missense_Mutation_p.D2054G|DYSF_uc010fem.2_Missense_Mutation_p.D2044G|DYSF_uc010fen.2_Missense_Mutation_p.D2061G|DYSF_uc002sif.2_Missense_Mutation_p.D2023G|DYSF_uc010yqy.1_Missense_Mutation_p.D903G|DYSF_uc010yqz.1_Missense_Mutation_p.D783G	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	2022	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						AGGCGCCCCGACACCTCCTTC	0.498													G	71909668	A	G	71909668	3	3	88	1	0	0	0	0	1	0	0	0	4859	275	10	3	6538	3	DYSF	2	71909668	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	114264	71909668	171289705	117	57539											
TET3	200424	broad.mit.edu	37	chr2	74273836	74273836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggccctggccctcgcgcgGcatggtatgaaaccacccaa	11	16	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:74273836G>A	uc002skb.3	+	1	387	c.387G>A	c.(385-387)CGG>CGA	p.R129R	TET3_uc010fez.1_Silent_p.R129R	NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	129							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CCCTCGCGCGGCATGGTATGA	0.627													A	74273836	G	A	74273836	2	1	88	1	0	0	0	0	0	0	0	1	15768	1190	42	2		2	TET3	2	74273836	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2364168	74273836	168925537	118	57540											
INO80B	83444	broad.mit.edu	37	chr2	74683363	74683363	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatgacaatggagacctcaaGaaggagatcaatgagcggct	13	7	2	5			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:74683363G>T	uc002slg.2	+	4	549	c.504G>T	c.(502-504)AAG>AAT	p.K168N	INO80B_uc002slf.1_Missense_Mutation_p.K155N|INO80B_uc010yrr.1_Missense_Mutation_p.K140N|WBP1_uc002slh.1_RNA|INO80B_uc002sli.1_RNA|INO80B_uc010yrs.1_Missense_Mutation_p.K186N|WBP1_uc002slj.1_5'Flank|WBP1_uc002slk.1_5'Flank|WBP1_uc002sll.1_5'Flank	NM_031288	NP_112578	Q9C086	IN80B_HUMAN	high mobility group AT-hook 1-like 4	168					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			pancreas(1)	1						GAGACCTCAAGAAGGAGATCA	0.423													T	74683363	G	T	74683363	3	4	88	1	0	0	0	0	1	0	0	0	7747	933	33	5	518	5	INO80B	2	74683363	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	409527	74683363	168516010	119	57541											
KDM3A	55818	broad.mit.edu	37	chr2	86697368	86697368	+	Frame_Shift_Del	DEL	A	A	-													tgacagacccagctaaactcAaaaagctgcaacagagtggc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:86697367_86697367CA>C	uc002sri.4	+	10	1887	c.1560_1560CA>C	c.(1558-1560)ctcfs	p.L520fs	KDM3A_uc010ytj.2_Frame_Shift_Del_p.L520fs|KDM3A_uc010ytk.2_Frame_Shift_Del_p.L468fs	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA.	520					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.L520L(2)|p.L520H(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CAGCTAAACTCAAAAAGCTGC	0.448													-	86697368	A	-	86697368	7	5	88	1	0	1	0	1	0	0	0	0	8126	131	5	0	1599	0	KDM3A	2	86697368	Frame_Shift_Del	DEL	A	TCGA-BR-8382-01A-11D-2394-08	12014005	86697368	156502005	120	57542											
SEMA4C	54910	broad.mit.edu	37	chr2	97526594	97526594	+	Frame_Shift_Del	DEL	C	C	-													cctggaggtggcgaagggggCcccccaccgggctggcaccg							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:97526593_97526593GC>G	uc002sxg.4	-	12	2662	c.2431_2431GC>C	c.(2431-2433)cccfs	p.P811fs	ANKRD39_uc002sxd.4_5'Flank|SEMA4C_uc002sxf.4_Frame_Shift_Del_p.P258fs|SEMA4C_uc002sxe.3_Frame_Shift_Del_p.P299fs|SEMA4C_uc002sxh.4_Frame_Shift_Del_p.P758fs	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	758					muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GGCGAAGGGGGCCCCCCACCG	0.597													-	97526594	C	-	97526594	7	5	88	1	0	1	0	1	0	0	0	0	14033	726	26	0	234	0	SEMA4C	2	97526594	Frame_Shift_Del	DEL	C	TCGA-BR-8382-01A-11D-2394-08	10829226	97526594	145672779	121	57543											
ZAP70	7535	broad.mit.edu	37	chr2	98340609	98340609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgggctcttcctgctgcGccagtgcctgcgctcgctgg	15	15	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:98340609G>A	uc002syd.1	+	3	317	c.110G>A	c.(109-111)CGC>CAC	p.R37H	ZAP70_uc010yvf.1_Missense_Mutation_p.R37H|ZAP70_uc002sye.1_5'Flank	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	37	SH2 1.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						TTCCTGCTGCGCCAGTGCCTG	0.687													A	98340609	G	A	98340609	3	1	88	1	0	0	0	0	1	0	0	0	17511	1087	38	1	112	1	ZAP70	2	98340609	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	814015	98340609	144858764	122	57544											
GCC2	9648	broad.mit.edu	37	chr2	109087884	109087884	+	Frame_Shift_Del	DEL	A	A	-													aaacaataaactcagttcagAaaaaaaacagttgagtaggg							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:109087883_109087883GA>G	uc002tec.3	+	5	2252	c.2098_2098GA>G	c.(2098-2100)gaafs	p.E700fs	GCC2_uc002ted.3_Frame_Shift_Del_p.E599fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	700					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACA	0.308													-	109087884	A	-	109087884	7	5	88	1	0	1	0	1	0	0	0	0	6286	246	9	0	2121	0	GCC2	2	109087884	Frame_Shift_Del	DEL	A	TCGA-BR-8382-01A-11D-2394-08	10747275	109087884	134111489	123	57545											
SLC35F5	80255	broad.mit.edu	37	chr2	114500441	114500441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatattactgaacctcacaCgagactttttgggggcttaa	9	8	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:114500441C>T	uc002tku.1	-	7	1002	c.578G>A	c.(577-579)CGT>CAT	p.R193H	SLC35F5_uc002tkt.2_RNA|SLC35F5_uc002tkv.2_Missense_Mutation_p.R187H|SLC35F5_uc002tkw.2_Missense_Mutation_p.R193H	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	193					transport	integral to membrane					0						GAACCTCACACGAGACTTTTT	0.353													T	114500441	C	T	114500441	3	4	88	1	0	0	0	0	1	0	0	0	14592	536	19	1	1029	1	SLC35F5	2	114500441	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	5412557	114500441	128698932	124	57546											
TFCP2L1	29842	broad.mit.edu	37	chr2	122000030	122000030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggtcagtcttctgtttccGatcggctcccttcggctgcg	11	15	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:122000030G>A	uc002tmx.2	-	7	766	c.673C>T	c.(673-675)CGG>TGG	p.R225W	TFCP2L1_uc010flr.2_Missense_Mutation_p.R225W	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	LBP-9	225					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			pancreas(2)|ovary(1)	3	Renal(3;0.01)					TTCTGTTTCCGATCGGCTCCC	0.557													A	122000030	G	A	122000030	3	1	88	1	0	0	0	0	1	0	0	0	15793	1057	37	1	802	1	TFCP2L1	2	122000030	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	7499589	122000030	121199343	125	57547											
CACNB4	785	broad.mit.edu	37	chr2	152695680	152695680	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatcccccaggtgatcctcGgttcctatggggtttgtaag	11	10	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:152695680G>A	uc002tya.2	-	14	1584	c.1516C>T	c.(1516-1518)CGA>TGA	p.R506*	CACNB4_uc002txy.2_Nonsense_Mutation_p.R472*|CACNB4_uc002txz.2_Nonsense_Mutation_p.R488*|CACNB4_uc010fnz.2_Nonsense_Mutation_p.R444*	NM_000726	NP_000717	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4	506					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	GGTGATCCTCGGTTCCTATGG	0.453													A	152695680	G	A	152695680	4	1	88	1	0	0	0	0	0	1	0	0	2555	1124	39	1	50	1	CACNB4	2	152695680	Nonsense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	30695650	152695680	90503693	126	57548											
BAZ2B	29994	broad.mit.edu	37	chr2	160242867	160242867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttgtttttttttaccttGtatcctgttattagacctgg	6	6	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:160242867G>A	uc002uao.2	-	22	3820	c.3468C>T	c.(3466-3468)TAC>TAT	p.Y1156Y	BAZ2B_uc002uap.2_Silent_p.Y1120Y	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						TTTTTACCTTGTATCCTGTTA	0.358													A	160242867	G	A	160242867	2	1	88	1	0	0	0	0	0	0	0	1	1332	1372	48	4		4	BAZ2B	2	160242867	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	7547187	160242867	82956506	127	57549											
RBMS1	5937	broad.mit.edu	37	chr2	161159865	161159865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagccaacaccacgacttGtaccactggaatcacgtagt	7	13	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:161159865G>A	uc002ubo.2	-	5	980	c.536C>T	c.(535-537)ACA>ATA	p.T179I	RBMS1_uc002ubj.2_Missense_Mutation_p.T146I|RBMS1_uc002ubk.2_Missense_Mutation_p.T146I|RBMS1_uc002ubl.2_Missense_Mutation_p.T177I|RBMS1_uc002ubn.2_Missense_Mutation_p.T179I|RBMS1_uc002ubi.3_Missense_Mutation_p.T179I|RBMS1_uc002ubm.2_Missense_Mutation_p.T146I|RBMS1_uc002ubp.2_Missense_Mutation_p.T179I|RBMS1_uc010fox.2_Missense_Mutation_p.T179I	NM_016836	NP_058520	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting	179	RRM 2.				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding				0						ACCACGACTTGTACCACTGGA	0.383													A	161159865	G	A	161159865	3	1	88	1	0	0	0	0	1	0	0	0	13148	1377	48	4	720	4	RBMS1	2	161159865	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	916998	161159865	82039508	128	57550											
FAP	2191	broad.mit.edu	37	chr2	163074649	163074649	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattttgtagcaagcatttcCtctgaaaaataagtactagg	7	6	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:163074649C>A	uc002ucd.2	-	9	817	c.609G>T	c.(607-609)GAG>GAT	p.E203D	FAP_uc010zct.1_Missense_Mutation_p.E178D|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Missense_Mutation_p.E170D	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	203	Extracellular (Potential).	Substrate.			endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3						CAAGCATTTCCTCTGAAAAAT	0.284													A	163074649	C	A	163074649	3	1	88	1	0	0	0	0	1	0	0	0	5673	695	24	5	1745	5	FAP	2	163074649	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1914784	163074649	80124724	129	57551											
CSRNP3	80034	broad.mit.edu	37	chr2	166536162	166536162	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgaatggtgacagtcacAtttcagagcatcctgctgaa	9	9	2	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:166536162A>G	uc002udf.2	+	7	2033	c.1657A>G	c.(1657-1659)ATT>GTT	p.I553V	CSRNP3_uc002udg.2_Missense_Mutation_p.I553V	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	553					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						TGACAGTCACATTTCAGAGCA	0.453													G	166536162	A	G	166536162	3	3	88	1	0	0	0	0	1	0	0	0	3965	217	8	3	1671	3	CSRNP3	2	166536162	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	3461513	166536162	76663211	130	57552											
DHRS9	10170	broad.mit.edu	37	chr2	169938088	169938088	+	Frame_Shift_Del	DEL	A	A	-													tacctatcacacacagggggAaaaatgctcttttgggtgct							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:169938087_169938087GA>G	uc010zdc.2	+	1	288	c.176_176GA>G	c.(175-177)ggafs	p.G59fs	DHRS9_uc002uep.3_5'UTR|DHRS9_uc002ueq.3_5'UTR|DHRS9_uc002uer.1_5'UTR|DHRS9_uc010zdd.2_5'UTR|DHRS9_uc010zde.2_5'UTR	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	0					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CACACAGGGGGAAAAATGCTC	0.383													-	169938088	A	-	169938088	7	5	88	1	0	1	0	1	0	0	0	0	4498	261	9	0		0	DHRS9	2	169938088	Frame_Shift_Del	DEL	A	TCGA-BR-8382-01A-11D-2394-08	3401926	169938088	73261285	131	57553											
SP3	6670	broad.mit.edu	37	chr2	174774753	174774753	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atatcttgattgctggtggcGgaagtattaacagttcctat	10	6	1	1	rs149409403		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:174774753G>T	uc002uig.2	-	7	2426	c.2262C>A	c.(2260-2262)TCC>TCA	p.S754S	SP3_uc002uie.2_Silent_p.S686S|SP3_uc002uif.2_Silent_p.S701S|SP3_uc010zel.1_Silent_p.S751S	NM_003111	NP_003102	Q02447	SP3_HUMAN	Sp3 transcription factor isoform 1	754					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TGCTGGTGGCGGAAGTATTAA	0.393													T	174774753	G	T	174774753	2	4	88	1	0	0	0	0	0	0	0	1	14965	1103	39	5		5	SP3	2	174774753	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	4836665	174774753	68424620	132	57554											
HOXD11	3237	broad.mit.edu	37	chr2	176972292	176972292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgactacggcctggagcGcgccaagtggccgtaccgcg	15	16	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:176972292G>A	uc002uki.2	+	1	209	c.209G>A	c.(208-210)CGC>CAC	p.R70H	HOXD11_uc010fqx.2_Intron	NM_021192	NP_067015	P31277	HXD11_HUMAN	homeobox D11	70						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GGCCTGGAGCGCGCCAAGTGG	0.388			T	NUP98	AML								A	176972292	G	A	176972292	3	1	88	1	0	0	0	0	1	0	0	0	7320	1087	38	1	211	1	HOXD11	2	176972292	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2197539	176972292	66227081	133	57555											
TTN	7273	broad.mit.edu	37	chr2	179425103	179425103	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctctcgcctttcaattaTatatccagatatttcactac	2	11	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:179425103T>C	uc010zfg.1	-	275	78276	c.78052A>G	c.(78052-78054)ATA>GTA	p.I26018V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I19713V|TTN_uc010zfi.1_Missense_Mutation_p.I19646V|TTN_uc010zfj.1_Missense_Mutation_p.I19521V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26945							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTCAATTATATATCCAGAT	0.408													C	179425103	T	C	179425103	3	2	88	1	0	0	0	0	1	0	0	0	16732	1406	49	3	22371	3	TTN	2	179425103	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	2452811	179425103	63774270	134	57556											
TTN	7273	broad.mit.edu	37	chr2	179469726	179469726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacttaccatatacttcaaCgtgaacatttcggaacactg	5	11	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:179469726C>T	uc010zfg.1	-	229	46698	c.46474G>A	c.(46474-46476)GTT>ATT	p.V15492I	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V9187I|TTN_uc010zfi.1_Missense_Mutation_p.V9120I|TTN_uc010zfj.1_Missense_Mutation_p.V8995I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16419							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATACTTCAACGTGAACATTT	0.428													T	179469726	C	T	179469726	3	4	88	1	0	0	0	0	1	0	0	0	16732	536	19	1	53847	1	TTN	2	179469726	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	44623	179469726	63729647	135	57557											
TTN	7273	broad.mit.edu	37	chr2	179577126	179577126	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcctgcatcctctactgTgctacttggaatttccagga	8	11	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:179577126T>C	uc010zfg.1	-	92	24015	c.23791A>G	c.(23791-23793)ACA>GCA	p.T7931A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T4592A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8858							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTCTACTGTGCTACTTGGA	0.393													C	179577126	T	C	179577126	3	2	88	1	0	0	0	0	1	0	0	0	16732	1696	59	3	77078	3	TTN	2	179577126	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	107400	179577126	63622247	136	57558											
MFSD6	54842	broad.mit.edu	37	chr2	191300954	191300954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attgtgttaagataaacaacGatcttctaatttccaaggtc	6	7	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:191300954G>A	uc002urz.2	+	3	523	c.199G>A	c.(199-201)GAT>AAT	p.D67N		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	67					transmembrane transport	integral to membrane				ovary(2)	2						GATAAACAACGATCTTCTAAT	0.398													A	191300954	G	A	191300954	3	1	88	1	0	0	0	0	1	0	0	0	9535	1058	37	1	201	1	MFSD6	2	191300954	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	11723828	191300954	51898419	137	57559											
HECW2	57520	broad.mit.edu	37	chr2	197085637	197085637	+	Frame_Shift_Del	DEL	C	C	-													ctgtaactgggatattggcaCcccctggctttaattctcgt							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:197085636_197085636AC>A	uc002utm.1	-	24	4359	c.4176_4176GT>T	c.(4174-4176)ggtfs	p.G1392fs	HECW2_uc002utl.1_Frame_Shift_Del_p.G1036fs	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	1392	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGATATTGGCACCCCCTGGCT	0.393													-	197085637	C	-	197085637	7	5	88	1	0	1	0	1	0	0	0	0	7043	507	18	0	563	0	HECW2	2	197085637	Frame_Shift_Del	DEL	C	TCGA-BR-8382-01A-11D-2394-08	5784683	197085637	46113736	138	57560											
COQ10B	80219	broad.mit.edu	37	chr2	198327368	198327368	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atatcaaagagatctggataTtgtaaaacaagattagaaat	7	3	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:198327368T>G	uc002uuh.1	+	3	414	c.360T>G	c.(358-360)TAT>TAG	p.Y120*	COQ10B_uc010fsl.1_Nonsense_Mutation_p.Y92*	NM_025147	NP_079423	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B precursor	120						mitochondrial inner membrane					0			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			GATCTGGATATTGTAAAACAA	0.358													G	198327368	T	G	198327368	4	3	88	1	0	0	0	0	0	1	0	0	3744	1500	52	5	370	5	COQ10B	2	198327368	Nonsense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	1241731	198327368	44872005	139	57561											
C2orf69	205327	broad.mit.edu	37	chr2	200789976	200789976	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaacatgtttggtgccccAgaacacaatactgactttgg	9	9	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:200789976A>C	uc010zhb.1	+	2	708	c.525A>C	c.(523-525)CCA>CCC	p.P175P		NM_153689	NP_710156	Q8N8R5	CB069_HUMAN	hypothetical protein LOC205327 precursor	175						extracellular region				central_nervous_system(1)	1						TTGGTGCCCCAGAACACAATA	0.323													C	200789976	A	C	200789976	2	2	88	1	0	0	0	0	0	0	0	1	2188	175	7	5		5	C2orf69	2	200789976	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	2462608	200789976	42409397	140	57562											
CRYGD	1421	broad.mit.edu	37	chr2	208986445	208986445	+	Frame_Shift_Del	DEL	G	G	-													gagcccactctggcattcgtGgccccccagtcctggtagcg							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:208986444_208986444TG>T	uc002vcn.4	-	2	594	c.478_478CA>A	c.(478-480)acgfs	p.T160fs	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Frame_Shift_Del_p.T160fs	NM_006891	NP_008822	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma D (CRYGD), mRNA.	160	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CTGGCATTCGTGGCCCCCCAG	0.502													-	208986445	G	-	208986445	7	5	88	1	0	1	0	1	0	0	0	0	3917	1335	47	0	51	0	CRYGD	2	208986445	Frame_Shift_Del	DEL	G	TCGA-BR-8382-01A-11D-2394-08	8196469	208986445	34212928	141	57563											
CYP27A1	1593	broad.mit.edu	37	chr2	219677014	219677014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagccagcggaagcagcGctctatacggatgctttcaa	11	11	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:219677014G>A	uc002viz.3	+	3	950	c.516G>A	c.(514-516)GCG>GCA	p.A172A		NM_000784	NP_000775	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A,	172					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CGGAAGCAGCGCTCTATACGG	0.572													A	219677014	G	A	219677014	2	1	88	1	0	0	0	0	0	0	0	1	4158	1074	38	1		1	CYP27A1	2	219677014	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	10690569	219677014	23522359	142	57564											
CCDC108	255101	broad.mit.edu	37	chr2	219883883	219883883	+	Frame_Shift_Del	DEL	G	G	-													agccttaaaggggtgaggacGggggggatctggctcatgct							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:219883882_219883882CG>C	uc002vjl.1	-	20	3577	c.3493_3493CG>G	c.(3493-3495)gtcfs	p.V1165fs	CCDC108_uc002vjm.3_Frame_Shift_Del_p.V50fs	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1165						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGTGAGGACGGGGGGGATC	0.612													-	219883883	G	-	219883883	7	5	88	1	0	1	0	1	0	0	0	0	2743	1103	39	0	2345	0	CCDC108	2	219883883	Frame_Shift_Del	DEL	G	TCGA-BR-8382-01A-11D-2394-08	206869	219883883	23315490	143	57565											
OBSL1	23363	broad.mit.edu	37	chr2	220421238	220421238	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagtcacggtccctgcaTcccccagttggcagcctcgc	10	17	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:220421238T>C	uc010fwk.2	-	13	4331	c.4274A>G	c.(4273-4275)GAT>GGT	p.D1425G	OBSL1_uc002vmh.1_Missense_Mutation_p.D324G|OBSL1_uc010zli.1_Missense_Mutation_p.D232G|OBSL1_uc010fwl.1_Missense_Mutation_p.D900G	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1425	Ig-like 12.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGTCCCTGCATCCCCCAGTTG	0.617													C	220421238	T	C	220421238	3	2	88	1	0	0	0	0	1	0	0	0	10813	1435	50	3	1475	3	OBSL1	2	220421238	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	537355	220421238	22778135	144	57566											
SLC4A3	6508	broad.mit.edu	37	chr2	220502442	220502442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgaggaaccagcccaataCggcactgctctcactcatcc	7	18	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:220502442C>T	uc002vmp.3	+	17	2944	c.2675C>T	c.(2674-2676)ACG>ATG	p.T892M	SLC4A3_uc002vmo.3_Missense_Mutation_p.T919M|SLC4A3_uc010fwm.2_Missense_Mutation_p.T442M|SLC4A3_uc010fwn.1_Missense_Mutation_p.T401M	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	892	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCCCAATACGGCACTGCTC	0.657													T	220502442	C	T	220502442	3	4	88	1	0	0	0	0	1	0	0	0	14655	536	19	1	2818	1	SLC4A3	2	220502442	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	81204	220502442	22696931	145	57567											
SP100	6672	broad.mit.edu	37	chr2	231379990	231379990	+	Frame_Shift_Del	DEL	A	A	-													atatccctcctaaaggggagAaaaaaaagaagttcaaggat							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:231379989_231379989GA>G	uc002vqt.3	+	24	2415	c.2274_2274GA>G	c.(2272-2274)gagfs	p.E758fs	SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	758					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTAAAGGGGAGAAAAAAAAGA	0.418													-	231379990	A	-	231379990	7	5	88	1	0	1	0	1	0	0	0	0	14960	247	9	0	2373	0	SP100	2	231379990	Frame_Shift_Del	DEL	A	TCGA-BR-8382-01A-11D-2394-08	10877548	231379990	11819383	146	57568											
AGAP1	116987	broad.mit.edu	37	chr2	236949398	236949398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctccgtgcccagtccCggctgacgagccagagcgag	12	16	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:236949398C>T	uc002vvs.2	+	15	2399	c.1804C>T	c.(1804-1806)CGG>TGG	p.R602W	AGAP1_uc002vvt.2_Missense_Mutation_p.R549W	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	602					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						TGCCCAGTCCCGGCTGACGAG	0.577													T	236949398	C	T	236949398	3	4	88	1	0	0	0	0	1	0	0	0	366	643	23	1	1862	1	AGAP1	2	236949398	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	5569408	236949398	6249975	147	57569											
KIF1A	547	broad.mit.edu	37	chr2	241706365	241706365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggagtcgctccggaagaCgcagtgctcctccttgatga	12	13	0	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:241706365C>T	uc002vzy.2	-	18	1770	c.1624G>A	c.(1624-1626)GTC>ATC	p.V542I	KIF1A_uc010fzk.2_Missense_Mutation_p.V551I|KIF1A_uc002vzz.1_Missense_Mutation_p.V551I	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	542	FHA.				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)		CTCCGGAAGACGCAGTGCTCC	0.637													T	241706365	C	T	241706365	3	4	88	1	0	0	0	0	1	0	0	0	8283	536	19	1	3568	1	KIF1A	2	241706365	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	4756967	241706365	1493008	148	57570											
HDLBP	3069	broad.mit.edu	37	chr2	242181952	242181952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccctgataacaacggtgtCgcttcctgaaccttccacgg	9	15	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:242181952C>T	uc002waz.2	-	17	2320	c.2092G>A	c.(2092-2094)GAC>AAC	p.D698N	HDLBP_uc002wba.2_Missense_Mutation_p.D698N|HDLBP_uc002wbb.2_Missense_Mutation_p.D650N	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	698	KH 8.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ACAACGGTGTCGCTTCCTGAA	0.602													T	242181952	C	T	242181952	3	4	88	1	0	0	0	0	1	0	0	0	7025	884	31	1	1762	1	HDLBP	2	242181952	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	475587	242181952	1017421	149	57571											
SUMF1	285362	broad.mit.edu	37	chr3	4452611	4452611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgaagtccattcccatgCgttccccactatgttgtata	7	12	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:4452611C>T	uc003bpz.1	-	7	917	c.892G>A	c.(892-894)GCA>ACA	p.A298T	SUMF1_uc003bps.1_RNA|SUMF1_uc011ass.1_Missense_Mutation_p.A273T|SUMF1_uc010hby.1_Missense_Mutation_p.A298T|SUMF1_uc011ast.1_Missense_Mutation_p.A166T	NM_182760	NP_877437	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1 isoform 1	298		Calcium 2; via carbonyl oxygen.				endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			upper_aerodigestive_tract(1)	1		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CATTCCCATGCGTTCCCCACT	0.423													T	4452611	C	T	4452611	3	4	88	1	0	0	0	0	1	0	0	0	15382	768	27	1	244	1	SUMF1	3	4452611	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08		4452611	193569819	150	57572											
ITPR1	3708	broad.mit.edu	37	chr3	4683889	4683889	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctggaaatgaagggtcctGgttttatattcagccattct	11	7	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:4683889G>T	uc003bqa.2	+	7	827	c.479G>T	c.(478-480)TGG>TTG	p.W160L	ITPR1_uc010hbz.2_Missense_Mutation_p.W160L|ITPR1_uc010hca.1_Missense_Mutation_p.W160L|ITPR1_uc011asu.1_Missense_Mutation_p.W160L|ITPR1_uc010hcb.1_Missense_Mutation_p.W160L	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	160	MIR 1.|Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GAAGGGTCCTGGTTTTATATT	0.453													T	4683889	G	T	4683889	3	4	88	1	0	0	0	0	1	0	0	0	7920	1357	47	5	497	5	ITPR1	3	4683889	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	231278	4683889	193338541	151	57573											
ITPR1	3708	broad.mit.edu	37	chr3	4821278	4821278	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatcatggaaagcaggcaCgacagtgaaaacgcagagag	13	9	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:4821278C>T	uc003bqa.2	+	46	6540	c.6192C>T	c.(6190-6192)CAC>CAT	p.H2064H	ITPR1_uc010hca.1_Silent_p.H2049H|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Silent_p.H1034H	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	2112	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AAAGCAGGCACGACAGTGAAA	0.537													T	4821278	C	T	4821278	2	4	88	1	0	0	0	0	0	0	0	1	7920	535	19	1		1	ITPR1	3	4821278	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	137389	4821278	193201152	152	57574											
EDEM1	9695	broad.mit.edu	37	chr3	5255177	5255177	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacaggccgaaacctcaTgagttaaaagtcatcaactc	8	11	3	1	rs142859843	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:5255177T>C	uc003bqi.2	+	11	1986	c.1854T>C	c.(1852-1854)CAT>CAC	p.H618H		NM_014674	NP_055489	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like	618	Lumenal (Potential).				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			ovary(2)|breast(1)	3				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		CGAAACCTCATGAGTTAAAAG	0.468													C	5255177	T	C	5255177	2	2	88	1	0	0	0	0	0	0	0	1	4911	1461	51	3		3	EDEM1	3	5255177	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	433899	5255177	192767253	153	57575											
GRM7	2917	broad.mit.edu	37	chr3	7721878	7721878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggaagcgaagcttcaaggCggtagtcacagcagccacca	12	12	2	0	rs55716077		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:7721878C>T	uc003bqm.2	+	9	2868	c.2594C>T	c.(2593-2595)GCG>GTG	p.A865V	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.A865V|GRM7_uc003bql.2_Missense_Mutation_p.A865V|GRM7_uc003bqn.1_Missense_Mutation_p.A448V	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	865	Cytoplasmic (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	AGCTTCAAGGCGGTAGTCACA	0.522													T	7721878	C	T	7721878	3	4	88	1	0	0	0	0	1	0	0	0	6802	768	27	1	2628	1	GRM7	3	7721878	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2466701	7721878	190300552	154	57576											
IRAK2	3656	broad.mit.edu	37	chr3	10276206	10276206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctccaggaagacgggcGtggagaacgtgatggcaaag	16	8	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:10276206G>A	uc003bve.1	+	11	1412	c.1336G>A	c.(1336-1338)GTG>ATG	p.V446M		NM_001570	NP_001561	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	446	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			lung(5)|breast(3)	8						GAAGACGGGCGTGGAGAACGT	0.612													A	10276206	G	A	10276206	3	1	88	1	0	0	0	0	1	0	0	0	7823	1145	40	1	1378	1	IRAK2	3	10276206	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2554328	10276206	187746224	155	57577											
IQSEC1	9922	broad.mit.edu	37	chr3	12977013	12977013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcgttgctaaaggcaggCgagtcccagctgttgcgggc	14	11	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:12977013C>T	uc003bxt.2	-	3	1554	c.1545G>A	c.(1543-1545)TCG>TCA	p.S515S	IQSEC1_uc003bxu.3_Silent_p.S393S|IQSEC1_uc011auw.1_Silent_p.S501S	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	515					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						TAAAGGCAGGCGAGTCCCAGC	0.607													T	12977013	C	T	12977013	2	4	88	1	0	0	0	0	0	0	0	1	7817	755	27	1		1	IQSEC1	3	12977013	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2700807	12977013	185045417	156	57578											
OSBPL10	114884	broad.mit.edu	37	chr3	31705656	31705656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcttctcctccaggtgcCgcttctgctcggtggctgcg	13	14	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:31705656C>T	uc003cev.2	-	12	2546	c.2165G>A	c.(2164-2166)CGG>CAG	p.R722Q	OSBPL10_uc003ceu.1_Missense_Mutation_p.R479Q|OSBPL10_uc011axf.1_Missense_Mutation_p.R658Q	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	722					lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)		CTCCAGGTGCCGCTTCTGCTC	0.602													T	31705656	C	T	31705656	3	4	88	1	0	0	0	0	1	0	0	0	11275	652	23	1	137	1	OSBPL10	3	31705656	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	18728643	31705656	166316774	157	57579											
VILL	50853	broad.mit.edu	37	chr3	38039115	38039115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcagggtgggcagcctgCgtgccgccacgcccagcaag	16	16	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:38039115C>T	uc003chj.2	+	7	989	c.703C>T	c.(703-705)CGT>TGT	p.R235C	VILL_uc003chk.1_Missense_Mutation_p.R235C|VILL_uc003chl.2_Missense_Mutation_p.R235C|VILL_uc010hgu.2_Missense_Mutation_p.R65C	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	235					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGGCAGCCTGCGTGCCGCCAC	0.632													T	38039115	C	T	38039115	3	4	88	1	0	0	0	0	1	0	0	0	17162	768	27	1	725	1	VILL	3	38039115	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	6333459	38039115	159983315	158	57580											
ACVR2B	93	broad.mit.edu	37	chr3	38524694	38524694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcagaggctcgcttgtcCgcgggctgtgtggaggagcg	19	9	0	1	rs141985115	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:38524694C>T	uc003cif.2	+	11	1434	c.1410C>T	c.(1408-1410)TCC>TCT	p.S470S	ACVR2B_uc003cig.2_Silent_p.S261S	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	470	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CTCGCTTGTCCGCGGGCTGTG	0.597													T	38524694	C	T	38524694	2	4	88	1	0	0	0	0	0	0	0	1	224	639	23	1		1	ACVR2B	3	38524694	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	485579	38524694	159497736	159	57581											
ZNF620	253639	broad.mit.edu	37	chr3	40557930	40557930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagaaaagccctatgaatGtaaggagtgcggcaaggcct	14	7	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:40557930G>A	uc003ckk.2	+	5	994	c.845G>A	c.(844-846)TGT>TAT	p.C282Y	ZNF620_uc003ckl.2_Missense_Mutation_p.C168Y	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	282	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CCCTATGAATGTAAGGAGTGC	0.443													A	40557930	G	A	40557930	3	1	88	1	0	0	0	0	1	0	0	0	18041	1377	48	4	859	4	ZNF620	3	40557930	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2033236	40557930	157464500	160	57582											
TGM4	7047	broad.mit.edu	37	chr3	44929185	44929185	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttgggtgtctccagggccGaatcctagcatcgccaaaca	10	13	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:44929185G>A	uc003coc.3	+	3	271	c.198G>A	c.(196-198)CCG>CCA	p.P66P	TGM4_uc003coa.2_Silent_p.P66P|TGM4_uc003cob.2_Intron	NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	66					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CTCCAGGGCCGAATCCTAGCA	0.592													A	44929185	G	A	44929185	2	1	88	1	0	0	0	0	0	0	0	1	15829	1045	37	1		1	TGM4	3	44929185	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	4371255	44929185	153093245	161	57583											
CDCP1	64866	broad.mit.edu	37	chr3	45132792	45132792	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttggggagcacatcctcGtccaggctgaagatctcctc	12	13	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:45132792G>A	uc003com.2	-	7	2001	c.1866C>T	c.(1864-1866)GAC>GAT	p.D622D		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	622	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GCACATCCTCGTCCAGGCTGA	0.592													A	45132792	G	A	45132792	2	1	88	1	0	0	0	0	0	0	0	1	3093	1136	40	1		1	CDCP1	3	45132792	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	203607	45132792	152889638	162	57584											
CCR9	10803	broad.mit.edu	37	chr3	45942873	45942873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatccggcattgctatctGcaccatggtttaccctagcg	10	12	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:45942873G>A	uc003coz.1	+	3	750	c.593G>A	c.(592-594)TGC>TAC	p.C198Y	LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.1_Missense_Mutation_p.C186Y|CCR9_uc003cpa.1_Missense_Mutation_p.C186Y	NM_031200	NP_112477	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9 isoform A	198	Extracellular (Potential).				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				ovary(2)|breast(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		ATTGCTATCTGCACCATGGTT	0.488													A	45942873	G	A	45942873	3	1	88	1	0	0	0	0	1	0	0	0	2948	1319	46	2	599	2	CCR9	3	45942873	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	810081	45942873	152079557	163	57585											
KIF9	64147	broad.mit.edu	37	chr3	47316957	47316957	+	Frame_Shift_Del	DEL	T	T	-													acaactcctctccgaatgtcTttttttaagtgaatatcaat							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:47316956_47316956CT>C	uc010hjp.3	-	3	722	c.118_118AG>G	c.(118-120)gacfs	p.D40fs	KIF9_uc003cqx.3_Frame_Shift_Del_p.D40fs|KIF9_uc003cqy.3_Frame_Shift_Del_p.D40fs|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript|KIF9_uc003cra.4_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	40	Kinesin-motor.				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTCCGAATGTCTTTTTTTAAG	0.363													-	47316957	T	-	47316957	7	5	88	1	0	1	0	1	0	0	0	0	8310	1606	56	0	2331	0	KIF9	3	47316957	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	1374084	47316957	150705473	164	57586											
LAMB2	3913	broad.mit.edu	37	chr3	49168514	49168514	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctcggatctccctccgtgGgtcgagtaggttgtctccca	11	14	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:49168514G>T	uc003cwe.2	-	7	1083	c.784C>A	c.(784-786)CCA>ACA	p.P262T	LAMB2_uc003cwf.1_Missense_Mutation_p.P262T	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	262	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCCTCCGTGGGTCGAGTAGG	0.577													T	49168514	G	T	49168514	3	4	88	1	0	0	0	0	1	0	0	0	8611	1232	43	5	4716	5	LAMB2	3	49168514	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1851557	49168514	148853916	165	57587											
RBM6	10180	broad.mit.edu	37	chr3	50099450	50099450	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaagaagagatcaaggAaaaaaaacccaccagtcaag	10	7	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:50099450A>G	uc003cyc.2	+	15	2628	c.2495A>G	c.(2494-2496)GAA>GGA	p.E832G	RBM6_uc010hlc.1_Missense_Mutation_p.E351G|RBM6_uc003cyd.2_Missense_Mutation_p.E310G|RBM6_uc003cye.2_Missense_Mutation_p.E310G|RBM6_uc011bdi.1_Missense_Mutation_p.E174G|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	832					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GAGATCAAGGAAAAAAAACCC	0.428													G	50099450	A	G	50099450	3	3	88	1	0	0	0	0	1	0	0	0	13144	246	9	3	2549	3	RBM6	3	50099450	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	930936	50099450	147922980	166	57588											
DOCK3	1795	broad.mit.edu	37	chr3	51101994	51101994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtgcgggaggttaagcGgcacatcaccgtgcgcctgg	16	11	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:51101994G>A	uc011bds.1	+	6	454	c.431G>A	c.(430-432)CGG>CAG	p.R144Q		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	144						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GAGGTTAAGCGGCACATCACC	0.463													A	51101994	G	A	51101994	3	1	88	1	0	0	0	0	1	0	0	0	4688	1116	39	1	453	1	DOCK3	3	51101994	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1002544	51101994	146920436	167	57589											
PCBP4	57060	broad.mit.edu	37	chr3	51993974	51993974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcaggcaccccagatacCgtaacagctcgctctgtgga	10	14	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:51993974C>T	uc003dcd.1	-	6	849	c.453G>A	c.(451-453)ACG>ACA	p.T151T	PCBP4_uc003dcb.1_Silent_p.T117T|PCBP4_uc003dcc.1_Silent_p.T172T|PCBP4_uc003dce.1_Silent_p.T151T|PCBP4_uc003dcf.1_Silent_p.T151T|PCBP4_uc003dcg.1_Silent_p.T117T|PCBP4_uc003dch.1_Silent_p.T151T|PCBP4_uc003dci.1_Intron|PCBP4_uc003dcj.1_Silent_p.T151T|PCBP4_uc003dck.1_Intron|PCBP4_uc003dcl.1_Silent_p.T151T	NM_033010	NP_127503	P57723	PCBP4_HUMAN	poly(rC) binding protein 4 isoform c	151	KH 2.					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCCAGATACCGTAACAGCTC	0.617													T	51993974	C	T	51993974	2	4	88	1	0	0	0	0	0	0	0	1	11503	639	23	1		1	PCBP4	3	51993974	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	891980	51993974	146028456	168	57590											
POC1A	25886	broad.mit.edu	37	chr3	52183364	52183364	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaagtggacactcctcActgtggctgtgtgtgcacga	13	10	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:52183364A>G	uc003dcu.2	-	4	635	c.317T>C	c.(316-318)GTG>GCG	p.V106A	POC1A_uc003dcv.2_Missense_Mutation_p.V68A|POC1A_uc003dcw.2_Missense_Mutation_p.V106A	NM_015426	NP_056241	Q8NBT0	POC1A_HUMAN	WD repeat domain 51A isoform 1	106	WD 3.					centriole|microtubule basal body					0						GACACTCCTCACTGTGGCTGT	0.512													G	52183364	A	G	52183364	3	3	88	1	0	0	0	0	1	0	0	0	12175	159	6	3	938	3	POC1A	3	52183364	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	189390	52183364	145839066	169	57591											
NISCH	11188	broad.mit.edu	37	chr3	52521807	52521807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttttgcttcccgcatggcGacctcaccgagtttggcttc	9	14	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:52521807G>A	uc011beg.1	+	17	2371	c.2299G>A	c.(2299-2301)GAC>AAC	p.D767N	NISCH_uc003ded.3_Missense_Mutation_p.D767N|NISCH_uc003dee.3_Missense_Mutation_p.D256N|NISCH_uc003deg.1_RNA	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	767	Interaction with LIMK (By similarity).|Interaction with ITGA5 (By similarity).|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCCGCATGGCGACCTCACCGA	0.597													A	52521807	G	A	52521807	3	1	88	1	0	0	0	0	1	0	0	0	10432	1058	37	1	2361	1	NISCH	3	52521807	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	338443	52521807	145500623	170	57592											
NISCH	11188	broad.mit.edu	37	chr3	52522496	52522496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaagttccacttcctgcgCgtctacaaccagctgcgggc	11	14	1	1	rs144542629		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:52522496C>T	uc011beg.1	+	17	3060	c.2988C>T	c.(2986-2988)CGC>CGT	p.R996R	NISCH_uc003ded.3_Silent_p.R996R|NISCH_uc003dee.3_Silent_p.R485R|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	996					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		ACTTCCTGCGCGTCTACAACC	0.647													T	52522496	C	T	52522496	2	4	88	1	0	0	0	0	0	0	0	1	10432	755	27	1		1	NISCH	3	52522496	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	689	52522496	145499934	171	57593											
PBRM1	55193	broad.mit.edu	37	chr3	52702537	52702537	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ataataggactttgcattgtTaaaaagaagctggaagtcag	10	4	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:52702537T>A	uc003des.2	-	3	373	c.361A>T	c.(361-363)AAC>TAC	p.N121Y	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.N121Y|PBRM1_uc003der.2_Missense_Mutation_p.N121Y|PBRM1_uc003det.2_Missense_Mutation_p.N121Y|PBRM1_uc003deu.2_Missense_Mutation_p.N121Y|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.N121Y|PBRM1_uc010hmk.1_Missense_Mutation_p.N121Y|PBRM1_uc003dey.2_Missense_Mutation_p.N121Y|PBRM1_uc003dez.1_Missense_Mutation_p.N121Y|PBRM1_uc003dfb.1_Missense_Mutation_p.N19Y	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	121	Bromo 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.N121fs*7(1)		kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTTGCATTGTTAAAAAGAAGC	0.289			Mis|N|F|S|D|O		clear cell renal carcinoma|breast								A	52702537	T	A	52702537	3	1	88	1	0	0	0	0	1	0	0	0	11491	1754	61	5	4651	5	PBRM1	3	52702537	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	180041	52702537	145319893	172	57594											
PBRM1	55193	broad.mit.edu	37	chr3	52702554	52702554	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttaaaaagaagctggaagTcagcagtcagcaaattaaca	9	6	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:52702554T>A	uc003des.2	-	3	356	c.344A>T	c.(343-345)GAC>GTC	p.D115V	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.D115V|PBRM1_uc003der.2_Missense_Mutation_p.D115V|PBRM1_uc003det.2_Missense_Mutation_p.D115V|PBRM1_uc003deu.2_Missense_Mutation_p.D115V|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.D115V|PBRM1_uc010hmk.1_Missense_Mutation_p.D115V|PBRM1_uc003dey.2_Missense_Mutation_p.D115V|PBRM1_uc003dez.1_Missense_Mutation_p.D115V|PBRM1_uc003dfb.1_Missense_Mutation_p.D13V	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	115	Bromo 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AAGCTGGAAGTCAGCAGTCAG	0.318			Mis|N|F|S|D|O		clear cell renal carcinoma|breast								A	52702554	T	A	52702554	3	1	88	1	0	0	0	0	1	0	0	0	11491	1667	58	5	4668	5	PBRM1	3	52702554	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	17	52702554	145319876	173	57595											
CACNA1D	776	broad.mit.edu	37	chr3	53736702	53736702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagagagaaggcaaaagcaCggggagatttccagaagctc	13	7	0	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:53736702C>T	uc003dgv.3	+	9	1418	c.1255C>T	c.(1255-1257)CGG>TGG	p.R419W	CACNA1D_uc003dgu.3_Missense_Mutation_p.R419W|CACNA1D_uc003dgy.3_Missense_Mutation_p.R419W|CACNA1D_uc003dgw.3_Missense_Mutation_p.R66W	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	419	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GGCAAAAGCACGGGGAGATTT	0.522													T	53736702	C	T	53736702	3	4	88	1	0	0	0	0	1	0	0	0	2541	527	19	1	1397	1	CACNA1D	3	53736702	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1034148	53736702	144285728	174	57596											
ATXN7	6314	broad.mit.edu	37	chr3	63981710	63981711	+	Frame_Shift_Del	DEL	TG	TG	-													tggagtcttttaggaaaaacTgtgtggctcactctgggcct							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:63981709_63981710CTG>C	uc003dlv.3	+	11	2764_2765	c.2211_2212CTG>C	c.(2209-2214)aactgtfs	p.N737fs	ATXN7_uc003dlw.4_Frame_Shift_Del_p.N737fs|ATXN7_uc021wzy.1_Frame_Shift_Del_p.N737fs|ATXN7_uc011bfn.2_Frame_Shift_Del_p.N592fs	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	737	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TTAGGAAAAACTGTGTGGCTCA	0.5													-	63981711	TG	-	63981710	7	5	88	1	0	1	0	1	0	0	0	0	1215	1580	55	0	2318	0	ATXN7	3	63981710	Frame_Shift_Del	DEL	TG	TCGA-BR-8382-01A-11D-2394-08	10245008	63981710	134040720	175	57597											
MAGI1	9223	broad.mit.edu	37	chr3	65387114	65387114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaactgacaagtccttacCgactttgggctcttcttggg	10	10	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:65387114C>T	uc003dmn.2	-	13	2725	c.2199G>A	c.(2197-2199)TCG>TCA	p.S733S	MAGI1_uc003dmm.2_Silent_p.S733S|MAGI1_uc003dmo.2_Silent_p.S733S|MAGI1_uc003dmp.2_Silent_p.S733S|MAGI1_uc010hnx.1_Intron	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	733					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AAGTCCTTACCGACTTTGGGC	0.502													T	65387114	C	T	65387114	2	4	88	1	0	0	0	0	0	0	0	1	9190	666	23	1		1	MAGI1	3	65387114	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1405404	65387114	132635316	176	57598											
COL8A1	1295	broad.mit.edu	37	chr3	99514770	99514770	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaggggggcaacgtgtgGgttgctctattcaagaacaa	14	7	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:99514770G>T	uc003dtg.1	+	5	2270	c.2025G>T	c.(2023-2025)TGG>TGT	p.W675C	COL8A1_uc003dth.1_Missense_Mutation_p.W675C|COL8A1_uc003dti.1_Missense_Mutation_p.W676C	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	675	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						GCAACGTGTGGGTTGCTCTAT	0.542													T	99514770	G	T	99514770	3	4	88	1	0	0	0	0	1	0	0	0	3705	1241	43	5	2031	5	COL8A1	3	99514770	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	34127656	99514770	98507660	177	57599											
GPR128	84873	broad.mit.edu	37	chr3	100413765	100413765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgccaaccttacatgaaCgctttaggctactggaaacc	7	12	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:100413765C>T	uc003duc.2	+	16	2582	c.2314C>T	c.(2314-2316)CGC>TGC	p.R772C	GPR128_uc011bhc.1_Missense_Mutation_p.R473C|GPR128_uc003dud.2_Missense_Mutation_p.R295C	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	772	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4						CTTACATGAACGCTTTAGGCT	0.453													T	100413765	C	T	100413765	3	4	88	1	0	0	0	0	1	0	0	0	6641	536	19	1	2376	1	GPR128	3	100413765	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	898995	100413765	97608665	178	57600											
IMPG2	50939	broad.mit.edu	37	chr3	101038523	101038523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggaaacagaatagatctcCgccttctgattaaccactgt	7	10	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:101038523C>T	uc003duq.1	-	2	442	c.239G>A	c.(238-240)CGG>CAG	p.R80Q	IMPG2_uc011bhe.1_5'UTR	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	80	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						AATAGATCTCCGCCTTCTGAT	0.433													T	101038523	C	T	101038523	3	4	88	1	0	0	0	0	1	0	0	0	7729	652	23	1	3558	1	IMPG2	3	101038523	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	624758	101038523	96983907	179	57601											
ZNF80	7634	broad.mit.edu	37	chr3	113955576	113955576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacaggaggtgcgacctgcGgttgaagaccttcccgcact	13	13	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:113955576G>A	uc010hqo.2	-	1	850	c.346C>T	c.(346-348)CGC>TGC	p.R116C	ZNF80_uc003ebf.2_RNA	NM_007136	NP_009067	P51504	ZNF80_HUMAN	zinc finger protein 80	116	C2H2-type 3; atypical.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TGCGACCTGCGGTTGAAGACC	0.537													A	113955576	G	A	113955576	3	1	88	1	0	0	0	0	1	0	0	0	18165	1116	39	1	479	1	ZNF80	3	113955576	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	12917053	113955576	84066854	180	57602											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-													cacctgggggtgtgcctgcaGggggggtcccattgctggca							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:114058003delG	uc003ebi.2	-	5	2255	c.2075delC	c.(2074-2076)CCTfs	p.P692fs	ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P619fs	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632													-	114058003	G	-	114058003	7	5	88	1	0	1	0	1	0	0	0	0	17526	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-BR-8382-01A-11D-2394-08	102427	114058003	83964427	181	57603											
ZBTB20	26137	broad.mit.edu	37	chr3	114069871	114069871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccgtgcactcctcggattCgttgcgttccaggatctgca	10	13	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:114069871C>T	uc003ebi.2	-	4	1234	c.1054G>A	c.(1054-1056)GAA>AAA	p.E352K	ZBTB20_uc003ebj.2_Missense_Mutation_p.E279K|ZBTB20_uc010hqp.2_Missense_Mutation_p.E279K|ZBTB20_uc003ebk.2_Missense_Mutation_p.E279K|ZBTB20_uc003ebl.2_Missense_Mutation_p.E279K|ZBTB20_uc003ebm.2_Missense_Mutation_p.E279K|ZBTB20_uc003ebn.2_Missense_Mutation_p.E279K|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TCCTCGGATTCGTTGCGTTCC	0.587													T	114069871	C	T	114069871	3	4	88	1	0	0	0	0	1	0	0	0	17526	893	31	1	1179	1	ZBTB20	3	114069871	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	11868	114069871	83952559	182	57604											
POLQ	10721	broad.mit.edu	37	chr3	121200437	121200437	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgaaggttttccttctGcaacaaagagttgagctgat	9	8	1	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:121200437G>A	uc003eee.3	-	19	6322	c.6193C>T	c.(6193-6195)CAG>TAG	p.Q2065*	POLQ_uc003eed.2_Nonsense_Mutation_p.Q1237*	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	2065					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TTTTCCTTCTGCAACAAAGAG	0.393								DNA_polymerases_(catalytic_subunits)					A	121200437	G	A	121200437	4	1	88	1	0	0	0	0	0	1	0	0	12208	1328	46	2	1627	2	POLQ	3	121200437	Nonsense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	7130566	121200437	76821993	183	57605											
GOLGB1	2804	broad.mit.edu	37	chr3	121415133	121415133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtccagaaaggtagctaaCgtcttcttcctttttgctta	7	9	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:121415133C>T	uc003eei.3	-	13	4348	c.4222G>A	c.(4222-4224)GTT>ATT	p.V1408I	GOLGB1_uc010hrc.2_Missense_Mutation_p.V1413I|GOLGB1_uc003eej.3_Missense_Mutation_p.V1374I|GOLGB1_uc011bjm.1_Missense_Mutation_p.V1294I|GOLGB1_uc010hrd.1_Missense_Mutation_p.V1372I	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	1408	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		AGGTAGCTAACGTCTTCTTCC	0.383													T	121415133	C	T	121415133	3	4	88	1	0	0	0	0	1	0	0	0	6565	536	19	1	5597	1	GOLGB1	3	121415133	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	214696	121415133	76607297	184	57606											
MCM2	4171	broad.mit.edu	37	chr3	127335840	127335840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaccactggccagggggCgtcggctgtgggcctcacgg	16	14	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:127335840C>T	uc003ejp.2	+	10	1709	c.1652C>T	c.(1651-1653)GCG>GTG	p.A551V	MCM2_uc011bkm.1_Missense_Mutation_p.A421V|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.A504V	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	551	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						GGCCAGGGGGCGTCGGCTGTG	0.617													T	127335840	C	T	127335840	3	4	88	1	0	0	0	0	1	0	0	0	9386	768	27	1	1690	1	MCM2	3	127335840	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	5920707	127335840	70686590	185	57607											
TMCC1	23023	broad.mit.edu	37	chr3	129389916	129389916	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtattcagcaacgttgtcGtcccgggctgtttgtgcaat	11	9	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:129389916G>A	uc003emz.3	-	5	1269	c.768C>T	c.(766-768)GAC>GAT	p.D256D	TMCC1_uc003emy.3_Translation_Start_Site|TMCC1_uc011blc.1_Silent_p.D77D|TMCC1_uc010htg.2_Silent_p.D142D	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	256	Potential.					integral to membrane				skin(1)	1						CAACGTTGTCGTCCCGGGCTG	0.512													A	129389916	G	A	129389916	2	1	88	1	0	0	0	0	0	0	0	1	15989	1136	40	1		1	TMCC1	3	129389916	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2054076	129389916	68632514	186	57608											
A4GNT	51146	broad.mit.edu	37	chr3	137843319	137843319	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatcccacacttcatagtaGcgcctccactctcgatagga	7	14	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:137843319G>A	uc003ers.2	-	3	1012	c.810C>T	c.(808-810)CGC>CGT	p.R270R		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	270	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)	1						CTTCATAGTAGCGCCTCCACT	0.498													A	137843319	G	A	137843319	2	1	88	1	0	0	0	0	0	0	0	1	7	958	34	2		2	A4GNT	3	137843319	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	8453403	137843319	60179111	187	57609											
HLTF	6596	broad.mit.edu	37	chr3	148802525	148802525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcaaacttccaaataaaaCggaatctacttcttcatcac	2	12	5	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:148802525C>T	uc003ewq.1	-	2	390	c.172G>A	c.(172-174)GTT>ATT	p.V58I	HLTF_uc003ewr.1_Missense_Mutation_p.V58I|HLTF_uc003ews.1_Missense_Mutation_p.V58I|HLTF_uc010hve.1_Missense_Mutation_p.V58I	NM_139048	NP_620636	Q14527	HLTF_HUMAN	helicase-like transcription factor	58					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CCAAATAAAACGGAATCTACT	0.363													T	148802525	C	T	148802525	3	4	88	1	0	0	0	0	1	0	0	0	7215	536	19	1	2953	1	HLTF	3	148802525	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	10959206	148802525	49219905	188	57610											
HPS3	84343	broad.mit.edu	37	chr3	148872966	148872966	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggtggaatttgtatattgtGaatacgatctcaccagtgca	11	6	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:148872966G>A	uc003ewu.1	+	8	1613	c.1473G>A	c.(1471-1473)GTG>GTA	p.V491V	HPS3_uc011bnq.1_Silent_p.V326V	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	491						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGTATATTGTGAATACGATCT	0.343									Hermansky-Pudlak_syndrome				A	148872966	G	A	148872966	2	1	88	1	0	0	0	0	0	0	0	1	7340	1277	45	4		4	HPS3	3	148872966	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	70441	148872966	49149464	189	57611											
SIAH2	6478	broad.mit.edu	37	chr3	150460061	150460061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaccgtcatgaatcgaaCggggcgtggcctcccaggtc	12	15	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:150460061C>T	uc003eyi.2	-	2	1469	c.842G>A	c.(841-843)CGT>CAT	p.R281H		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	281	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ATGAATCGAACGGGGCGTGGC	0.547													T	150460061	C	T	150460061	3	4	88	1	0	0	0	0	1	0	0	0	14300	536	19	1	136	1	SIAH2	3	150460061	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1587095	150460061	47562369	190	57612											
MED12L	116931	broad.mit.edu	37	chr3	151082765	151082765	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actttttttcttataacctcAgtagtgcctgttcaaaagta	5	8	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:151082765A>C	uc003eyp.2	+	20	2891	c.2853_splice	c.e20-2	p.S951_splice	MED12L_uc011bnz.1_Splice_Site_p.S811_splice|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTATAACCTCAGTAGTGCCTG	0.318													C	151082765	A	C	151082765	5	2	88	1	0	0	0	0	0	0	1	0	9429	202	7	5	2929	5	MED12L	3	151082765	Splice_Site	SNP	A	TCGA-BR-8382-01A-11D-2394-08	622704	151082765	46939665	191	57613											
SI	6476	broad.mit.edu	37	chr3	164716334	164716334	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgactttcacttaccaatgaTtgatttgtccatgttgtccc	6	10	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:164716334T>A	uc003fei.2	-	38	4596	c.4534A>T	c.(4534-4536)ATC>TTC	p.I1512F		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1512	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTACCAATGATTGATTTGTCC	0.398										HNSCC(35;0.089)			A	164716334	T	A	164716334	3	1	88	1	0	0	0	0	1	0	0	0	14297	1493	52	5	993	5	SI	3	164716334	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	13633569	164716334	33306096	192	57614											
SLC7A14	57709	broad.mit.edu	37	chr3	170185060	170185060	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccactgagaaggggTcatccacgtcgtagcgttgg	12	13	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:170185060T>C	uc003fgz.2	-	8	2415	c.2099A>G	c.(2098-2100)GAC>GGC	p.D700G	CLDN11_uc011bpt.1_Intron|uc003fha.1_5'Flank	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	700						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGAGAAGGGGTCATCCACGTC	0.557													C	170185060	T	C	170185060	3	2	88	1	0	0	0	0	1	0	0	0	14696	1667	58	3	220	3	SLC7A14	3	170185060	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	5468726	170185060	27837370	193	57615											
SLC7A14	57709	broad.mit.edu	37	chr3	170201151	170201151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataaatgaccctcggcatcGggaagagggaccccagcaag	12	12	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:170201151G>A	uc003fgz.2	-	6	1383	c.1067C>T	c.(1066-1068)CCG>CTG	p.P356L	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	356	Helical; (Potential).					integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CCTCGGCATCGGGAAGAGGGA	0.542											OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	170201151	G	A	170201151	3	1	88	1	0	0	0	0	1	0	0	0	14696	1116	39	1	1260	1	SLC7A14	3	170201151	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	16091	170201151	27821279	194	57616											
USP13	8975	broad.mit.edu	37	chr3	179459997	179459997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttcagaggaaccgcatcGgctcagaaaacccaagcgat	9	13	2	2	rs61750381		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:179459997G>A	uc003fkh.2	+	12	1474	c.1393G>A	c.(1393-1395)GGC>AGC	p.G465S	USP13_uc003fkf.2_Missense_Mutation_p.G465S	NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	465					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GAACCGCATCGGCTCAGAAAA	0.443													A	179459997	G	A	179459997	3	1	88	1	0	0	0	0	1	0	0	0	17041	1116	39	1	1439	1	USP13	3	179459997	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	9258846	179459997	18562433	195	57617											
FXR1	8087	broad.mit.edu	37	chr3	180666221	180666221	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcctgtcaatcaaaataaAactgtcaaaaaaaatacctt	4	9	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:180666221A>G	uc003fkq.2	+	5	379	c.357A>G	c.(355-357)AAA>AAG	p.K119K	FXR1_uc003fkp.2_Silent_p.K34K|FXR1_uc003fkr.2_Silent_p.K119K|FXR1_uc011bqj.1_Silent_p.K33K|FXR1_uc003fks.2_Silent_p.K33K|FXR1_uc011bqk.1_Silent_p.K70K|FXR1_uc011bql.1_Silent_p.K106K	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	119					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			ATCAAAATAAAACTGTCAAAA	0.333													G	180666221	A	G	180666221	2	3	88	1	0	0	0	0	0	0	0	1	6115	11	1	3		3	FXR1	3	180666221	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	1206224	180666221	17356209	196	57618											
B3GNT5	84002	broad.mit.edu	37	chr3	182987674	182987674	+	Frame_Shift_Del	DEL	T	T	-													gttttttagcgagcctcatgTttttttgggaaccaatcgat							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:182987673_182987673GT>G	uc003flm.3	+	1	610	c.87_87GT>G	c.(85-87)atgfs	p.M29fs	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003flk.3_Frame_Shift_Del_p.M29fs|B3GNT5_uc003fll.3_Frame_Shift_Del_p.M29fs|B3GNT5_uc021xic.1_Frame_Shift_Del_p.M29fs	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA.	29					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CGAGCCTCATGTTTTTTTGGG	0.353													-	182987674	T	-	182987674	7	5	88	1	0	1	0	1	0	0	0	0	1260	1725	60	0	90	0	B3GNT5	3	182987674	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	2321453	182987674	15034756	197	57619											
HTR3E	285242	broad.mit.edu	37	chr3	183822019	183822019	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagaggaatgtgagggcaTcacgaagatgagtatggcag	15	7	1	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:183822019T>C	uc010hxq.2	+	4	795	c.329T>C	c.(328-330)ATC>ACC	p.I110T	HTR3E_uc003fml.3_Missense_Mutation_p.I95T|HTR3E_uc003fmm.2_Missense_Mutation_p.I125T|HTR3E_uc010hxr.2_Missense_Mutation_p.I110T|HTR3E_uc003fmn.2_Missense_Mutation_p.I110T	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	110	Extracellular (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGTGAGGGCATCACGAAGATG	0.498													C	183822019	T	C	183822019	3	2	88	1	0	0	0	0	1	0	0	0	7448	1435	50	3	384	3	HTR3E	3	183822019	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	834345	183822019	14200411	198	57620											
DVL3	1857	broad.mit.edu	37	chr3	183883972	183883972	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaacgagcgtggtgacggCggcatctacattggctctat	13	10	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:183883972C>T	uc003fms.2	+	8	962	c.822C>T	c.(820-822)GGC>GGT	p.G274G	DVL3_uc011bqw.1_Silent_p.G274G|DVL3_uc003fmt.2_5'UTR|DVL3_uc003fmu.2_Silent_p.G106G	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	274	PDZ.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GTGGTGACGGCGGCATCTACA	0.502													T	183883972	C	T	183883972	2	4	88	1	0	0	0	0	0	0	0	1	4837	755	27	1		1	DVL3	3	183883972	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	61953	183883972	14138458	199	57621											
EIF4G1	1981	broad.mit.edu	37	chr3	184035263	184035263	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcctacccagcctcccaggGggcctactacatccctggac	8	19	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:184035263G>T	uc003fnp.2	+	5	500	c.302G>T	c.(301-303)GGG>GTG	p.G101V	EIF4G1_uc003fno.1_Intron|EIF4G1_uc010hxw.1_Intron|EIF4G1_uc003fnt.2_Intron|EIF4G1_uc003fnq.2_Missense_Mutation_p.G14V|EIF4G1_uc003fnr.2_Intron|EIF4G1_uc010hxx.2_Missense_Mutation_p.G108V|EIF4G1_uc003fns.2_Missense_Mutation_p.G61V|EIF4G1_uc010hxy.2_Missense_Mutation_p.G108V|EIF4G1_uc010hxz.1_Missense_Mutation_p.G14V|EIF4G1_uc003fnv.3_Missense_Mutation_p.G101V|EIF4G1_uc003fnu.3_Missense_Mutation_p.G101V|EIF4G1_uc003fnw.2_Missense_Mutation_p.G108V|EIF4G1_uc003fnx.2_5'Flank|EIF4G1_uc003fny.3_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	101					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCTCCCAGGGGGCCTACTAC	0.607													T	184035263	G	T	184035263	3	4	88	1	0	0	0	0	1	0	0	0	5036	1232	43	5	312	5	EIF4G1	3	184035263	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	151291	184035263	13987167	200	57622											
EIF4G1	1981	broad.mit.edu	37	chr3	184040486	184040486	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacaatgctgagaacatccAgcccggggaacagaagtatg	11	10	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:184040486A>G	uc003fnp.2	+	12	1961	c.1763A>G	c.(1762-1764)CAG>CGG	p.Q588R	EIF4G1_uc003fno.1_Missense_Mutation_p.Q529R|EIF4G1_uc010hxw.1_Missense_Mutation_p.Q424R|EIF4G1_uc003fnt.2_Missense_Mutation_p.Q299R|EIF4G1_uc003fnq.2_Missense_Mutation_p.Q501R|EIF4G1_uc003fnr.2_Missense_Mutation_p.Q424R|EIF4G1_uc010hxx.2_Missense_Mutation_p.Q595R|EIF4G1_uc003fns.2_Missense_Mutation_p.Q548R|EIF4G1_uc010hxy.2_Missense_Mutation_p.Q595R|EIF4G1_uc003fnv.3_Missense_Mutation_p.Q588R|EIF4G1_uc003fnu.3_Missense_Mutation_p.Q588R|EIF4G1_uc003fnw.2_Missense_Mutation_p.Q595R|EIF4G1_uc003fnx.2_Missense_Mutation_p.Q392R|EIF4G1_uc003fny.3_Missense_Mutation_p.Q392R|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	588	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGAACATCCAGCCCGGGGAA	0.498													G	184040486	A	G	184040486	3	3	88	1	0	0	0	0	1	0	0	0	5036	188	7	3	1801	3	EIF4G1	3	184040486	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	5223	184040486	13981944	201	57623											
TPRG1	285386	broad.mit.edu	37	chr3	189038571	189038571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattggaaaccgcaacaaaCttggctattcccttgcccgt	7	13	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:189038571C>T	uc003frv.1	+	11	2017	c.790C>T	c.(790-792)CTT>TTT	p.L264F	TPRG1_uc003frw.1_Missense_Mutation_p.L264F	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	264											0	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CCGCAACAAACTTGGCTATTC	0.413													T	189038571	C	T	189038571	3	4	88	1	0	0	0	0	1	0	0	0	16415	565	20	4	808	4	TPRG1	3	189038571	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	4998085	189038571	8983859	202	57624											
TP63	8626	broad.mit.edu	37	chr3	189349368	189349368	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgacccttacatccagcggTgagtttgaatgtgacataac	9	10	0	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:189349368T>C	uc003fry.2	+	1	151	c.62_splice	c.e1+2	p.R21_splice	TP63_uc003frx.2_Splice_Site_p.R21_splice|TP63_uc003frz.2_Splice_Site_p.R21_splice|TP63_uc010hzc.1_Splice_Site_p.R21_splice	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1						anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CATCCAGCGGTGAGTTTGAAT	0.408									Hay-Wells_syndrome	HNSCC(45;0.13)			C	189349368	T	C	189349368	5	2	88	1	0	0	0	0	0	0	1	0	16389	1710	59	3	66	3	TP63	3	189349368	Splice_Site	SNP	T	TCGA-BR-8382-01A-11D-2394-08	310797	189349368	8673062	203	57625											
MUC4	4585	broad.mit.edu	37	chr3	195481147	195481147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcagcccttcccaggaaCgcagtggacactcgggaagc	12	15	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:195481147C>T	uc011bto.1	-	20	15341	c.14881G>A	c.(14881-14883)GTT>ATT	p.V4961I	MUC4_uc010hzq.2_5'Flank|MUC4_uc003fuz.2_Missense_Mutation_p.V687I|MUC4_uc003fva.2_Missense_Mutation_p.V569I|MUC4_uc003fvb.2_Missense_Mutation_p.V605I|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Missense_Mutation_p.V605I|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Missense_Mutation_p.V569I|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Missense_Mutation_p.V653I|MUC4_uc011bti.1_Missense_Mutation_p.V653I|MUC4_uc011btj.1_Missense_Mutation_p.V830I|MUC4_uc011btk.1_Missense_Mutation_p.V569I|MUC4_uc011btl.1_Missense_Mutation_p.V598I|MUC4_uc011btm.1_Missense_Mutation_p.V778I|MUC4_uc011btn.1_Missense_Mutation_p.V569I|MUC4_uc003fvo.2_Missense_Mutation_p.V853I|MUC4_uc003fvp.2_Missense_Mutation_p.V802I	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1846					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTCCCAGGAACGCAGTGGACA	0.687													T	195481147	C	T	195481147	3	4	88	1	0	0	0	0	1	0	0	0	9978	536	19	1	1001	1	MUC4	3	195481147	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	6131779	195481147	2541283	204	57626											
TNK2	10188	broad.mit.edu	37	chr3	195595229	195595230	+	Frame_Shift_Ins	INS	-	-	G													cacgtcgtcataggcgggcgINSgggggggcagcgggcgtgcg							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:195595228_195595229C>CG	uc003fvu.1	-	11	2438_2439	c.1895_1896G>CG	c.(1894-1896)ccgfs	p.P632fs	TNK2_uc003fvq.1_Frame_Shift_Ins_p.P39fs|TNK2_uc003fvr.1_Frame_Shift_Ins_p.P157fs|TNK2_uc003fvs.1_Frame_Shift_Ins_p.P664fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.P710fs|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_3'UTR	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	632	Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CATAGGCGGGCGGGGGGGGCAG	0.728													G	195595230	-	G	195595229	7	5	88	1	0	1	1	0	0	0	0	0	16315	1116	39	0	1237	0	TNK2	3	195595229	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	114082	195595229	2427201	205	57627											
LMLN	89782	broad.mit.edu	37	chr3	197751625	197751625	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagtgtgagaggaagcTgagttacccagactggggaa	17	5	0	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:197751625T>C	uc011buo.1	+	14	1644	c.1622T>C	c.(1621-1623)CTG>CCG	p.L541P	LMLN_uc003fyt.2_Missense_Mutation_p.L526P|LMLN_uc010iar.2_Missense_Mutation_p.L578P|LMLN_uc010ias.2_Missense_Mutation_p.L489P|LMLN_uc003fyu.2_Missense_Mutation_p.L338P	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	leishmanolysin-like isoform 2	541					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GAGAGGAAGCTGAGTTACCCA	0.373													C	197751625	T	C	197751625	3	2	88	1	0	0	0	0	1	0	0	0	8847	1580	55	3	1791	3	LMLN	3	197751625	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	2156396	197751625	270805	206	57628											
MFSD7	84179	broad.mit.edu	37	chr4	678306	678306	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcacagaggatctgctccAggagggctgagaagctggca	15	9	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:678306A>G	uc003gay.2	-	6	866	c.809T>C	c.(808-810)CTG>CCG	p.L270P	MFSD7_uc003gaw.2_Missense_Mutation_p.L12P|MFSD7_uc003gax.2_Missense_Mutation_p.L269P|MFSD7_uc003gaz.2_Missense_Mutation_p.L151P|MFSD7_uc003gba.2_Missense_Mutation_p.L173P|MFSD7_uc003gbb.1_Missense_Mutation_p.L205P	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing	270	Helical; (Potential).				transmembrane transport	integral to membrane					0						GATCTGCTCCAGGAGGGCTGA	0.617											OREG0016025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	678306	A	G	678306	3	3	88	1	0	0	0	0	1	0	0	0	9537	188	7	3	893	3	MFSD7	4	678306	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08		678306	190475970	207	57629											
PCGF3	10336	broad.mit.edu	37	chr4	727522	727522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacgcccacatcacctgccGcctgtgcagcgggtacctca	9	18	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:727522G>A	uc011bva.1	+	5	528	c.53G>A	c.(52-54)CGC>CAC	p.R18H	PCGF3_uc003gbc.1_RNA|PCGF3_uc003gbd.1_RNA|PCGF3_uc003gbe.2_Missense_Mutation_p.R18H|PCGF3_uc010ibh.2_Missense_Mutation_p.R18H|PCGF3_uc003gbg.1_5'Flank|PCGF3_uc003gbh.2_5'Flank	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN	ring finger protein 3	18	RING-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding				0						ATCACCTGCCGCCTGTGCAGC	0.587													A	727522	G	A	727522	3	1	88	1	0	0	0	0	1	0	0	0	11576	1087	38	1	55	1	PCGF3	4	727522	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	49216	727522	190426754	208	57630											
HGFAC	3083	broad.mit.edu	37	chr4	3451076	3451076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagccgggggtctacacccGcgtggccaactatgtggact	13	13	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:3451076G>A	uc003ghc.2	+	14	1901	c.1898G>A	c.(1897-1899)CGC>CAC	p.R633H	HGFAC_uc010icw.2_Missense_Mutation_p.R640H	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	633	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GTCTACACCCGCGTGGCCAAC	0.672													A	3451076	G	A	3451076	3	1	88	1	0	0	0	0	1	0	0	0	7086	1087	38	1	1952	1	HGFAC	4	3451076	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2723554	3451076	187703200	209	57631											
AFAP1	60312	broad.mit.edu	37	chr4	7776532	7776532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgggccagcctattccGcagggcctctttcctcttca	10	15	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:7776532G>A	uc003gkg.1	-	14	2017	c.1744C>T	c.(1744-1746)CGG>TGG	p.R582W	AFAP1_uc011bwk.1_Missense_Mutation_p.R666W|LOC84740_uc003gkd.3_RNA	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	582	Potential.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						AGCCTATTCCGCAGGGCCTCT	0.562													A	7776532	G	A	7776532	3	1	88	1	0	0	0	0	1	0	0	0	353	1086	38	1	464	1	AFAP1	4	7776532	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	4325456	7776532	183377744	210	57632											
SH3TC1	54436	broad.mit.edu	37	chr4	8233879	8233879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctacctgtccctgggcaccGagcggtgagggctggctctg	15	13	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:8233879G>A	uc003gkv.3	+	13	3228	c.3127G>A	c.(3127-3129)GAG>AAG	p.E1043K	SH3TC1_uc003gkw.3_Missense_Mutation_p.E967K|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_RNA	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1043	TPR 7.						binding			large_intestine(2)|pancreas(1)	3						CCTGGGCACCGAGCGGTGAGG	0.512													A	8233879	G	A	8233879	3	1	88	1	0	0	0	0	1	0	0	0	14261	1059	37	1	3173	1	SH3TC1	4	8233879	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	457347	8233879	182920397	211	57633											
ACOX3	8310	broad.mit.edu	37	chr4	8407708	8407708	+	Frame_Shift_Del	DEL	T	T	-													tccagaccgttctgcccgagTttttttcctatgtcgccaac							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:8407707_8407707GT>G	uc010idk.3	-	6	896	c.751_751AC>C	c.(751-753)ctcfs	p.L251fs	ACOX3_uc003glc.4_Frame_Shift_Del_p.L251fs|ACOX3_uc003gld.4_Frame_Shift_Del_p.L251fs	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	251					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.K250fs*25(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TTCTGCCCGAGTTTTTTTCCT	0.542													-	8407708	T	-	8407708	7	5	88	1	0	1	0	1	0	0	0	0	160	1722	60	0	1400	0	ACOX3	4	8407708	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	173829	8407708	182746568	212	57634											
LCORL	254251	broad.mit.edu	37	chr4	17847433	17847433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagattccattcaatgggacGattaaggcacatcttaatgg	9	8	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:17847433G>A	uc003gpq.2	-	7	879	c.868C>T	c.(868-870)CGT>TGT	p.R290C	LCORL_uc011bxk.1_3'UTR	NM_153686	NP_710153	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						TCAATGGGACGATTAAGGCAC	0.398													A	17847433	G	A	17847433	3	1	88	1	0	0	0	0	1	0	0	0	8690	1058	37	1	92	1	LCORL	4	17847433	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	9439725	17847433	173306843	213	57635											
PCDH7	5099	broad.mit.edu	37	chr4	30724711	30724711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgggcgagagggtggccaCggtgctggcgacagacgcag	19	12	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:30724711C>T	uc003gsk.1	+	1	2675	c.1667C>T	c.(1666-1668)ACG>ATG	p.T556M	PCDH7_uc011bxw.1_Missense_Mutation_p.T509M|PCDH7_uc011bxx.1_Missense_Mutation_p.T556M	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	556	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						AGGGTGGCCACGGTGCTGGCG	0.607													T	30724711	C	T	30724711	3	4	88	1	0	0	0	0	1	0	0	0	11516	536	19	1	1669	1	PCDH7	4	30724711	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	12877278	30724711	160429565	214	57636											
KLB	152831	broad.mit.edu	37	chr4	39408583	39408583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcaaatgaagccaggctGtgcggcaggatctccaggga	16	9	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:39408583G>A	uc003gua.2	+	1	111	c.14G>A	c.(13-15)TGT>TAT	p.C5Y	KLB_uc011byj.1_Missense_Mutation_p.C5Y	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	5	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						AAGCCAGGCTGTGCGGCAGGA	0.443													A	39408583	G	A	39408583	3	1	88	1	0	0	0	0	1	0	0	0	8332	1377	48	4	16	4	KLB	4	39408583	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	8683872	39408583	151745693	215	57637											
KLB	152831	broad.mit.edu	37	chr4	39448221	39448221	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgaggtactacaggtgCgtggtcagtgaggggctgaa	17	8	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:39448221C>T	uc003gua.2	+	4	1972	c.1875C>T	c.(1873-1875)TGC>TGT	p.C625C	KLB_uc011byj.1_Silent_p.C616C	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	625	Extracellular (Potential).|Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						ACTACAGGTGCGTGGTCAGTG	0.617													T	39448221	C	T	39448221	2	4	88	1	0	0	0	0	0	0	0	1	8332	776	27	1		1	KLB	4	39448221	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	39638	39448221	151706055	216	57638											
NFXL1	152518	broad.mit.edu	37	chr4	47901013	47901013	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcacacttatgttgcccacaAagcaacttctgtccacatgg	6	13	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:47901013A>T	uc010igh.2	-	7	1128	c.951T>A	c.(949-951)CTT>CTA	p.L317L	NFXL1_uc003gxp.2_Silent_p.L317L|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Silent_p.L317L	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like	317						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						GTTGCCCACAAAGCAACTTCT	0.418													T	47901013	A	T	47901013	2	4	88	1	0	0	0	0	0	0	0	1	10388	1	1	5		5	NFXL1	4	47901013	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	8452792	47901013	143253263	217	57639											
SPATA18	132671	broad.mit.edu	37	chr4	52943184	52943184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggctgagaccgttcagcGgatcatctacatcgccacag	10	13	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:52943184G>A	uc003gzl.2	+	7	1276	c.998G>A	c.(997-999)CGG>CAG	p.R333Q	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.R301Q|SPATA18_uc003gzk.1_Missense_Mutation_p.R333Q	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	333					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ACCGTTCAGCGGATCATCTAC	0.607													A	52943184	G	A	52943184	3	1	88	1	0	0	0	0	1	0	0	0	15002	1116	39	1	1024	1	SPATA18	4	52943184	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	5042171	52943184	138211092	218	57640											
PDGFRA	5156	broad.mit.edu	37	chr4	55138612	55138612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaccatggctcaactggggGacagacggtgaggtgcacag	15	10	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:55138612G>A	uc003han.3	+	9	1620	c.1289G>A	c.(1288-1290)GGA>GAA	p.G430E	PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.G324E|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	430	Ig-like C2-type 5.|Extracellular (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TCAACTGGGGGACAGACGGTG	0.473			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			A	55138612	G	A	55138612	3	1	88	1	0	0	0	0	1	0	0	0	11661	1174	41	4	1319	4	PDGFRA	4	55138612	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2195428	55138612	136015664	219	57641											
EXOC1	55763	broad.mit.edu	37	chr4	56736875	56736875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaatcatggcatctgaaaAacaagtcaacatcctgatga	7	9	4	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:56736875A>G	uc003hbe.1	+	6	793	c.635A>G	c.(634-636)AAA>AGA	p.K212R	EXOC1_uc003hbf.1_Missense_Mutation_p.K212R|EXOC1_uc003hbg.1_Missense_Mutation_p.K212R	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	212	Potential.				exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)					GCATCTGAAAAACAAGTCAAC	0.303													G	56736875	A	G	56736875	3	3	88	1	0	0	0	0	1	0	0	0	5301	14	1	3	653	3	EXOC1	4	56736875	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	1598263	56736875	134417401	220	57642											
EPHA5	2044	broad.mit.edu	37	chr4	66467570	66467570	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgtcgtaccacagaaggGcattttttatagtatacacg	9	7	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:66467570G>A	uc003hcy.2	-	3	892	c.699C>T	c.(697-699)TGC>TGT	p.C233C	EPHA5_uc003hcx.2_Silent_p.C164C|EPHA5_uc003hcz.2_Silent_p.C233C|EPHA5_uc011cah.1_Silent_p.C233C|EPHA5_uc011cai.1_Silent_p.C233C|EPHA5_uc003hda.2_Silent_p.C233C	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	233	Extracellular (Potential).|Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						CCACAGAAGGGCATTTTTTAT	0.453										TSP Lung(17;0.13)			A	66467570	G	A	66467570	2	1	88	1	0	0	0	0	0	0	0	1	5170	1195	42	2		2	EPHA5	4	66467570	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	9730695	66467570	124686706	221	57643											
TMPRSS11A	339967	broad.mit.edu	37	chr4	68784721	68784721	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtgctccaaatcctgtgaTgtggacagtcaaatttggtt	10	7	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:68784721T>C	uc003hdr.1	-	8	1052	c.931A>G	c.(931-933)ATC>GTC	p.I311V	LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.I308V	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A isoform 1	311	Peptidase S1.|Extracellular (Potential).				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			skin(1)	1						AATCCTGTGATGTGGACAGTC	0.463													C	68784721	T	C	68784721	3	2	88	1	0	0	0	0	1	0	0	0	16236	1464	51	3	346	3	TMPRSS11A	4	68784721	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	2317151	68784721	122369555	222	57644											
UGT2B10	7365	broad.mit.edu	37	chr4	69885523	69885523	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttgacataacaacaggtaCgtaggaaggagggaaaataa	11	4	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:69885523C>A	uc011cao.1	-	4	602	c.466G>T	c.(466-468)GTA>TTA	p.V156L	UGT2B10_uc011can.1_Intron			P36537	UDB10_HUMAN	RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;	193					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						ACAACAGGTACGTAGGAAGGA	0.388													A	69885523	C	A	69885523	3	1	88	1	0	0	0	0	1	0	0	0	16953	536	19	5	2644	5	UGT2B10	4	69885523	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1100802	69885523	121268753	223	57645											
FRAS1	80144	broad.mit.edu	37	chr4	79373470	79373470	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatctacagaatcaccagacAgccccagctgggccacttgg	10	14	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:79373470A>C	uc003hlb.2	+	47	7165	c.6725A>C	c.(6724-6726)CAG>CCG	p.Q2242P		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2241	CSPG 10.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						ATCACCAGACAGCCCCAGCTG	0.468													C	79373470	A	C	79373470	3	2	88	1	0	0	0	0	1	0	0	0	6042	188	7	5	6986	5	FRAS1	4	79373470	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	9487947	79373470	111780806	224	57646											
RASGEF1B	153020	broad.mit.edu	37	chr4	82363492	82363492	+	Frame_Shift_Del	DEL	T	T	-													agtcttcactttggcccaagTtttttttagtcgagagactg							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:82363491_82363491GT>G	uc003hmi.1	-	8	1112	c.968_968AC>C	c.(967-969)actfs	p.T323fs	RASGEF1B_uc003hmj.1_Frame_Shift_Del_p.T322fs|RASGEF1B_uc010ijq.1_Frame_Shift_Del_p.T281fs	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	Homo sapiens RasGEF domain family, member 1B (RASGEF1B), mRNA.	323	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TTTGGCCCAAGTTTTTTTTAG	0.378													-	82363492	T	-	82363492	7	5	88	1	0	1	0	1	0	0	0	0	13070	1725	60	0	478	0	RASGEF1B	4	82363492	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	2990022	82363492	108790784	225	57647											
HELQ	113510	broad.mit.edu	37	chr4	84374584	84374584	+	Frame_Shift_Del	DEL	T	T	-													tcgcatttccagtcatggcaTtttttagatgatctttaata							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:84374583_84374583AT>A	uc003hom.3	-	1	992	c.813_813AT>T	c.(811-813)aatfs	p.N271fs	HELQ_uc010ikb.3_Frame_Shift_Del_p.N271fs|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript|HELQ_uc003hon.1_Frame_Shift_Del_p.N165fs|HELQ_uc003hoo.1_Frame_Shift_Del_p.N234fs|HELQ_uc003hop.1_Frame_Shift_Del_p.N165fs|HELQ_uc003hoq.1_Frame_Shift_Del_p.N271fs|MRPS18C_uc003hor.4_5'Flank	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	271							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CAGTCATGGCATTTTTTAGAT	0.373								Other identified genes with known or suspected DNA repair function					-	84374584	T	-	84374584	7	5	88	1	0	1	0	1	0	0	0	0	7047	1493	52	0	2561	0	HELQ	4	84374584	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	2011092	84374584	106779692	226	57648											
GRID2	2895	broad.mit.edu	37	chr4	94032058	94032058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagacactcttaggcgagCgatccttgttatgaatcctg	10	10	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:94032058C>T	uc011cdt.1	+	4	947	c.689C>T	c.(688-690)GCG>GTG	p.A230V	GRID2_uc010ikx.2_Missense_Mutation_p.A230V|GRID2_uc011cdu.1_Missense_Mutation_p.A135V|GRID2_uc011cdv.1_RNA	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	230	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTTAGGCGAGCGATCCTTGTT	0.388													T	94032058	C	T	94032058	3	4	88	1	0	0	0	0	1	0	0	0	6772	768	27	1	703	1	GRID2	4	94032058	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	9657474	94032058	97122218	227	57649											
PDLIM5	10611	broad.mit.edu	37	chr4	95539205	95539205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcggtagcttccacacGgagcatgcccgagagcctgg	12	14	0	1	rs115018620	by1000genomes	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:95539205G>A	uc003hti.2	+	8	1122	c.971G>A	c.(970-972)CGG>CAG	p.R324Q	PDLIM5_uc011cdx.1_Missense_Mutation_p.R221Q|PDLIM5_uc003hth.2_Missense_Mutation_p.R215Q|PDLIM5_uc003htj.2_5'UTR|PDLIM5_uc003htk.2_Missense_Mutation_p.R353Q|PDLIM5_uc011cdy.1_Missense_Mutation_p.R202Q|PDLIM5_uc003htl.2_5'UTR	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	324					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GCTTCCACACGGAGCATGCCC	0.547													A	95539205	G	A	95539205	3	1	88	1	0	0	0	0	1	0	0	0	11683	1116	39	1	1157	1	PDLIM5	4	95539205	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1507147	95539205	95615071	228	57650											
ADH6	130	broad.mit.edu	37	chr4	100129893	100129895	+	In_Frame_Del	DEL	CTT	CTT	-													atctgtcatatcaaataaaaCttcttgaatgggtttcttta							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:100129892_100129894ACTT>A	uc003huo.2	-	5	853_855	c.759_761AAGT>T	c.(757-762)gaagtt>gaTt	p.253_254EV>D	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_In_Frame_Del_p.44_45EV>D|ADH6_uc003hup.4_In_Frame_Del_p.253_254EV>D|ADH6_uc010ile.3_In_Frame_Del_p.253_254EV>D	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	253					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)	ATCAAATAAAACTTCTTGAATGG	0.409													-	100129895	CTT	-	100129893	7	5	88	1	0	1	0	1	0	0	0	0	312	565	20	0	387	0	ADH6	4	100129893	In_Frame_Del	DEL	CTT	TCGA-BR-8382-01A-11D-2394-08	4590688	100129893	91024383	229	57651											
NHEDC1	150159	broad.mit.edu	37	chr4	103822279	103822279	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgacaggtaaactttttaatGatgttctaatgttgacaact	7	5	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:103822279G>T	uc003hww.2	-	12	1665	c.1543C>A	c.(1543-1545)CAT>AAT	p.H515N	NHEDC1_uc003hwu.2_Intron|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Missense_Mutation_p.H288N	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	515						integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)		ACTTTTTAATGATGTTCTAAT	0.363													T	103822279	G	T	103822279	3	4	88	1	0	0	0	0	1	0	0	0	10400	1290	45	5	108	5	NHEDC1	4	103822279	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	3692386	103822279	87331997	230	57652											
TET2	54790	broad.mit.edu	37	chr4	106157081	106157081	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccctcacaccaggtgcActtctccaaaacagaccatt	4	15	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:106157081A>G	uc003hxk.2	+	3	2368	c.1982A>G	c.(1981-1983)CAC>CGC	p.H661R	TET2_uc011cez.1_Missense_Mutation_p.H682R|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.H661R|TET2_uc003hxi.1_Missense_Mutation_p.H661R	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	661	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CACCAGGTGCACTTCTCCAAA	0.433			Mis N|F		MDS								G	106157081	A	G	106157081	3	3	88	1	0	0	0	0	1	0	0	0	15767	159	6	3	1984	3	TET2	4	106157081	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	2334802	106157081	84997195	231	57653											
CCDC109B	55013	broad.mit.edu	37	chr4	110606496	110606496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactttgatgtgcagcaataCaacaagttaaaagaagacct	7	8	0	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:110606496C>T	uc011cfs.1	+	7	1045	c.906C>T	c.(904-906)TAC>TAT	p.Y302Y		NM_017918	NP_060388	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	302	Potential.					integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		TGCAGCAATACAACAAGTTAA	0.358													T	110606496	C	T	110606496	2	4	88	1	0	0	0	0	0	0	0	1	2745	489	17	4		4	CCDC109B	4	110606496	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	4449415	110606496	80547780	232	57654											
KIAA1109	84162	broad.mit.edu	37	chr4	123202741	123202741	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccactaccttctgaaaaaaCcccaacaagtgttaatcaaa	3	13	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:123202741C>A	uc003ieh.2	+	50	8894	c.8849C>A	c.(8848-8850)ACC>AAC	p.T2950N	KIAA1109_uc003iel.1_Missense_Mutation_p.T885N	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2950					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TCTGAAAAAACCCCAACAAGT	0.358													A	123202741	C	A	123202741	3	1	88	1	0	0	0	0	1	0	0	0	8208	507	18	5	9047	5	KIAA1109	4	123202741	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	12596245	123202741	67951535	233	57655											
KIAA1109	84162	broad.mit.edu	37	chr4	123237962	123237962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaagaaaaattatgaagCgtatagtggatatcagagaa	12	2	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:123237962C>T	uc003ieh.2	+	60	10660	c.10615C>T	c.(10615-10617)CGT>TGT	p.R3539C	KIAA1109_uc003iel.1_Missense_Mutation_p.R1474C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3539					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AATTATGAAGCGTATAGTGGA	0.363													T	123237962	C	T	123237962	3	4	88	1	0	0	0	0	1	0	0	0	8208	768	27	1	10853	1	KIAA1109	4	123237962	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	35221	123237962	67916314	234	57656											
TBC1D9	23158	broad.mit.edu	37	chr4	141543721	141543721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatggaggagcaggccccGttgtcccggggcgaggagtc	18	11	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:141543721G>A	uc010ioj.2	-	21	3701	c.3429C>T	c.(3427-3429)AAC>AAT	p.N1143N		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1143						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AGCAGGCCCCGTTGTCCCGGG	0.637													A	141543721	G	A	141543721	2	1	88	1	0	0	0	0	0	0	0	1	15624	1136	40	1		1	TBC1D9	4	141543721	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	18305759	141543721	49610555	235	57657											
DCLK2	166614	broad.mit.edu	37	chr4	151000236	151000236	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaacgggacaaaaggccGcggccggggtcgcggagagg	21	9	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:151000236G>A	uc003ilm.3	+	1	157	c.57G>A	c.(55-57)CCG>CCA	p.P19P	DCLK2_uc003iln.3_Silent_p.P19P|DCLK2_uc003ilo.3_Silent_p.P19P|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	19					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					ACAAAAGGCCGCGGCCGGGGT	0.706													A	151000236	G	A	151000236	2	1	88	1	0	0	0	0	0	0	0	1	4292	1074	38	1		1	DCLK2	4	151000236	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	9456515	151000236	40154040	236	57658											
PET112L	5188	broad.mit.edu	37	chr4	152629223	152629223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctccccagggtgatgcacgGatatattggcatccactctc	10	13	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:152629223G>A	uc003iml.2	-	6	806	c.794C>T	c.(793-795)TCC>TTC	p.S265F	PET112L_uc003imm.3_Missense_Mutation_p.S265F	NM_004564	NP_004555	O75879	GATB_HUMAN	PET112-like precursor	265						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding				0	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)			L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GTGATGCACGGATATATTGGC	0.498													A	152629223	G	A	152629223	3	1	88	1	0	0	0	0	1	0	0	0	11734	1174	41	4	911	4	PET112L	4	152629223	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1628987	152629223	38525053	237	57659											
FHDC1	85462	broad.mit.edu	37	chr4	153864507	153864507	+	Frame_Shift_Del	DEL	T	T	-													agaaaaagcggatgagaagcTttttttggaaaactattccg							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:153864506_153864506CT>C	uc003inf.2	+	0	372	c.297_297CT>C	c.(295-297)agcfs	p.S99fs		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	99	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGATGAGAAGCTTTTTTTGGA	0.512													-	153864507	T	-	153864507	7	5	88	1	0	1	0	1	0	0	0	0	5876	1609	56	0	300	0	FHDC1	4	153864507	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	1235284	153864507	37289769	238	57660											
LRAT	9227	broad.mit.edu	37	chr4	155665737	155665737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgacagacgacatggggCgcacgcagaaggtggtctcc	14	13	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:155665737C>T	uc003iom.1	+	1	586	c.259C>T	c.(259-261)CGC>TGC	p.R87C	uc003iol.2_Intron|LRAT_uc003ion.1_Missense_Mutation_p.R87C	NM_004744	NP_004735	O95237	LRAT_HUMAN	lecithin retinol acyltransferase	87	Cytoplasmic (By similarity).				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)	1	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	CGACATGGGGCGCACGCAGAA	0.602													T	155665737	C	T	155665737	3	4	88	1	0	0	0	0	1	0	0	0	8930	768	27	1	261	1	LRAT	4	155665737	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1801230	155665737	35488539	239	57661											
NPY2R	4887	broad.mit.edu	37	chr4	156135336	156135336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcaaattcaagagcatgcGcacagtaaccaactttttca	6	10	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:156135336G>A	uc003ioq.2	+	2	740	c.245G>A	c.(244-246)CGC>CAC	p.R82H	NPY2R_uc003ior.2_Missense_Mutation_p.R82H	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	82	Cytoplasmic (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			lung(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0854)				AAGAGCATGCGCACAGTAACC	0.453													A	156135336	G	A	156135336	3	1	88	1	0	0	0	0	1	0	0	0	10609	1087	38	1	247	1	NPY2R	4	156135336	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	469599	156135336	35018940	240	57662											
GRIA2	2891	broad.mit.edu	37	chr4	158233993	158233993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggcgtgtaattctggactGtgaaagggataaagtaaacg	13	5	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:158233993G>A	uc003ipm.3	+	4	1091	c.632G>A	c.(631-633)TGT>TAT	p.C211Y	GRIA2_uc011cit.1_Missense_Mutation_p.C164Y|GRIA2_uc003ipl.3_Missense_Mutation_p.C211Y|GRIA2_uc003ipk.3_Missense_Mutation_p.C164Y|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	211	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATTCTGGACTGTGAAAGGGAT	0.368													A	158233993	G	A	158233993	3	1	88	1	0	0	0	0	1	0	0	0	6768	1377	48	4	646	4	GRIA2	4	158233993	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2098657	158233993	32920283	241	57663											
FAM198B	51313	broad.mit.edu	37	chr4	159091771	159091771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggagcacagcgccaggtgCgcccccctccagcaccagca	12	19	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:159091771C>T	uc003ipp.3	-	2	1209	c.757G>A	c.(757-759)GCA>ACA	p.A253T	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.A253T|FAM198B_uc003ipr.3_Missense_Mutation_p.A253T|FAM198B_uc003ips.2_Missense_Mutation_p.A253T|uc003ipt.1_5'Flank	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	253	Extracellular (Potential).					Golgi membrane|integral to membrane					0						GCGCCAGGTGCGCCCCCCTCC	0.637											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	159091771	C	T	159091771	3	4	88	1	0	0	0	0	1	0	0	0	5529	768	27	1	923	1	FAM198B	4	159091771	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	857778	159091771	32062505	242	57664											
RXFP1	59350	broad.mit.edu	37	chr4	159493936	159493936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcttgcctcagctcctgCactgtaacggtgtggacgac	12	12	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:159493936C>T	uc003ipz.2	+	2	218	c.136C>T	c.(136-138)CAC>TAC	p.H46Y	RXFP1_uc010iqj.1_5'UTR|RXFP1_uc011cja.1_5'UTR|RXFP1_uc010iqo.2_Missense_Mutation_p.H46Y|RXFP1_uc011cjb.1_5'UTR|RXFP1_uc010iqk.2_5'UTR|RXFP1_uc011cjc.1_5'UTR|RXFP1_uc011cjd.1_5'UTR|RXFP1_uc010iql.2_5'UTR|RXFP1_uc011cje.1_Missense_Mutation_p.H46Y|RXFP1_uc010iqm.2_Missense_Mutation_p.H46Y|RXFP1_uc011cjf.1_5'UTR|RXFP1_uc010iqn.2_Intron	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	46	Extracellular (Potential).|LDL-receptor class A.					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TCAGCTCCTGCACTGTAACGG	0.552													T	159493936	C	T	159493936	3	4	88	1	0	0	0	0	1	0	0	0	13759	710	25	2	142	2	RXFP1	4	159493936	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	402165	159493936	31660340	243	57665											
RXFP1	59350	broad.mit.edu	37	chr4	159526258	159526258	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataagaaagcttcctcctgAttgcttcaagaattatcatg	6	8	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:159526258A>G	uc003ipz.2	+	5	513	c.431A>G	c.(430-432)GAT>GGT	p.D144G	RXFP1_uc010iqj.1_5'UTR|RXFP1_uc011cja.1_Missense_Mutation_p.D63G|RXFP1_uc010iqo.2_Missense_Mutation_p.D144G|RXFP1_uc011cjb.1_Missense_Mutation_p.D90G|RXFP1_uc010iqk.2_5'UTR|RXFP1_uc011cjc.1_Missense_Mutation_p.D63G|RXFP1_uc011cjd.1_Missense_Mutation_p.D63G|RXFP1_uc010iql.2_5'UTR|RXFP1_uc011cje.1_Missense_Mutation_p.D171G|RXFP1_uc010iqm.2_Missense_Mutation_p.D111G|RXFP1_uc011cjf.1_Missense_Mutation_p.D14G|RXFP1_uc010iqn.2_Missense_Mutation_p.D90G	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	144	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CTTCCTCCTGATTGCTTCAAG	0.294													G	159526258	A	G	159526258	3	3	88	1	0	0	0	0	1	0	0	0	13759	333	12	3	449	3	RXFP1	4	159526258	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	32322	159526258	31628018	244	57666											
FNIP2	57600	broad.mit.edu	37	chr4	159789994	159789995	+	Frame_Shift_Ins	INS	-	-	A													tgactttgaaagccgcatgaINSaaaaaatggaggaacgggtg							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:159789993_159789994G>GA	uc003iqe.4	+	12	2388_2389	c.2205_2206G>GA	c.(2203-2208)atgaaafs	p.M735fs		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	735	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AAAGCCGCATGAAAAAAATGGA	0.525													A	159789995	-	A	159789994	7	5	88	1	0	1	1	0	0	0	0	0	5976	247	9	0	2256	0	FNIP2	4	159789994	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	263736	159789994	31364282	245	57667											
DDX60L	91351	broad.mit.edu	37	chr4	169336605	169336605	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaaatgatcaaaataaAcatcatcatgttttactgaa	5	5	3	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:169336605A>C	uc003irq.3	-	22	3154	c.2933T>G	c.(2932-2934)GTT>GGT	p.V978G	DDX60L_uc003irr.1_Missense_Mutation_p.V978G|DDX60L_uc003irs.1_Missense_Mutation_p.V673G	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	978							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ATCAAAATAAACATCATCATG	0.333													C	169336605	A	C	169336605	3	2	88	1	0	0	0	0	1	0	0	0	4379	43	2	5	2255	5	DDX60L	4	169336605	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	9546611	169336605	21817671	246	57668											
ADAM29	11086	broad.mit.edu	37	chr4	175898136	175898136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggaagatggaattccctGtaaggagaggggctactgct	15	6	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:175898136G>A	uc003iuc.2	+	5	2130	c.1460G>A	c.(1459-1461)TGT>TAT	p.C487Y	ADAM29_uc003iud.2_Missense_Mutation_p.C487Y|ADAM29_uc010irr.2_Missense_Mutation_p.C487Y|ADAM29_uc011cki.1_Missense_Mutation_p.C487Y	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	487	Cys-rich.|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)		GGAATTCCCTGTAAGGAGAGG	0.463													A	175898136	G	A	175898136	3	1	88	1	0	0	0	0	1	0	0	0	247	1377	48	4	1462	4	ADAM29	4	175898136	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	6561531	175898136	15256140	247	57669											
ODZ3	55714	broad.mit.edu	37	chr4	183267894	183267894	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggaaatggggctccctcacaGaggttactctatcagtgcag	12	10	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:183267894G>T	uc003ivd.1	+	2	360	c.323G>T	c.(322-324)AGA>ATA	p.R108I	ODZ3_uc010irv.1_Missense_Mutation_p.R108I	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	108	Cytoplasmic (Potential).|Teneurin N-terminal.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CTCCCTCACAGAGGTTACTCT	0.493													T	183267894	G	T	183267894	3	4	88	1	0	0	0	0	1	0	0	0	10836	942	33	5	329	5	ODZ3	4	183267894	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	7369758	183267894	7886382	248	57670											
STOX2	56977	broad.mit.edu	37	chr4	184930580	184930580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattgccccgaaaccactgcGactcttgccactgctgcaga	8	16	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:184930580G>A	uc003ivz.1	+	3	2024	c.589G>A	c.(589-591)GAC>AAC	p.D197N	STOX2_uc003iwa.1_5'UTR	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	storkhead box 2	197					embryo development|maternal placenta development						0		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AAACCACTGCGACTCTTGCCA	0.597													A	184930580	G	A	184930580	3	1	88	1	0	0	0	0	1	0	0	0	15319	1058	37	1	599	1	STOX2	4	184930580	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1662686	184930580	6223696	249	57671											
ZFP42	132625	broad.mit.edu	37	chr4	188924176	188924176	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgatttctcagactgttAcatagaatgcgtcataaggg	11	6	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:188924176A>G	uc003izg.1	+	3	460	c.215A>G	c.(214-216)TAC>TGC	p.Y72C	ZFP42_uc003izh.1_Missense_Mutation_p.Y72C|ZFP42_uc003izi.1_Missense_Mutation_p.Y72C	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	72					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TCAGACTGTTACATAGAATGC	0.483													G	188924176	A	G	188924176	3	3	88	1	0	0	0	0	1	0	0	0	17647	391	14	3	217	3	ZFP42	4	188924176	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	3993596	188924176	2230100	250	57672											
TRIML1	339976	broad.mit.edu	37	chr4	189068025	189068025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcctatctcgtgttgtcGgaggatctgaagagtgtgaa	13	6	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:189068025G>A	uc003izm.1	+	6	1021	c.906G>A	c.(904-906)TCG>TCA	p.S302S	TRIML1_uc003izn.1_Silent_p.S26S	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	302	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TCGTGTTGTCGGAGGATCTGA	0.517													A	189068025	G	A	189068025	2	1	88	1	0	0	0	0	0	0	0	1	16547	1103	39	1		1	TRIML1	4	189068025	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	143849	189068025	2086251	251	57673											
CEP72	55722	broad.mit.edu	37	chr5	634017	634017	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcctcccgggagcacgAgcttcagccagaaggggcgt	16	13	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:634017A>G	uc003jbf.2	+	5	718	c.646A>G	c.(646-648)AGC>GGC	p.S216G	CEP72_uc011clz.1_Intron	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	centrosomal protein 72 kDa	216					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				ovary(1)	1			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CGGGAGCACGAGCTTCAGCCA	0.627													G	634017	A	G	634017	3	3	88	1	0	0	0	0	1	0	0	0	3260	304	11	3	664	3	CEP72	5	634017	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08		634017	180281243	252	57674											
ADAMTS16	170690	broad.mit.edu	37	chr5	5232586	5232586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccatgctccaggacctgcGgagggggagtatctcatagg	14	12	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:5232586G>A	uc003jdl.2	+	12	1945	c.1807G>A	c.(1807-1809)GGA>AGA	p.G603R	ADAMTS16_uc003jdk.1_Missense_Mutation_p.G603R|ADAMTS16_uc010itk.1_5'Flank	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	603	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CAGGACCTGCGGAGGGGGAGT	0.567													A	5232586	G	A	5232586	3	1	88	1	0	0	0	0	1	0	0	0	261	1117	39	1	1853	1	ADAMTS16	5	5232586	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	4598569	5232586	175682674	253	57675											
ADAMTS16	170690	broad.mit.edu	37	chr5	5303727	5303727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggaggaagcgggcagtgGcctgtaagagcaccaacccc	16	11	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:5303727G>A	uc003jdl.2	+	20	3172	c.3034G>A	c.(3034-3036)GCC>ACC	p.A1012T	ADAMTS16_uc003jdk.1_Missense_Mutation_p.A1012T	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1012	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						GCGGGCAGTGGCCTGTAAGAG	0.612													A	5303727	G	A	5303727	3	1	88	1	0	0	0	0	1	0	0	0	261	1203	42	2	3112	2	ADAMTS16	5	5303727	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	71141	5303727	175611533	254	57676											
ADAMTS16	170690	broad.mit.edu	37	chr5	5306762	5306762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggaacgtgcctgcgcccCgcttccatgccccaggcacc	11	19	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:5306762C>T	uc003jdl.2	+	21	3470	c.3332C>T	c.(3331-3333)CCG>CTG	p.P1111L		NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1111	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						GCCTGCGCCCCGCTTCCATGC	0.612													T	5306762	C	T	5306762	3	4	88	1	0	0	0	0	1	0	0	0	261	652	23	1	3414	1	ADAMTS16	5	5306762	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	3035	5306762	175608498	255	57677											
SEMA5A	9037	broad.mit.edu	37	chr5	9122806	9122806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatgccagggccctcgcaCtgccagccaccacactgcgg	10	19	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:9122806C>T	uc003jek.2	-	14	2455	c.1743G>A	c.(1741-1743)CAG>CAA	p.Q581Q		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	581	Extracellular (Potential).|TSP type-1 1.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						GGCCCTCGCACTGCCAGCCAC	0.627													T	9122806	C	T	9122806	2	4	88	1	0	0	0	0	0	0	0	1	14037	564	20	4		4	SEMA5A	5	9122806	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	3816044	9122806	171792454	256	57678											
DNAH5	1767	broad.mit.edu	37	chr5	13729585	13729585	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaactgtctgagtttgctaAgttccaccaaattcagccat	6	10	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:13729585A>C	uc003jfd.2	-	69	11888	c.11846T>G	c.(11845-11847)CTT>CGT	p.L3949R	DNAH5_uc003jfc.2_Missense_Mutation_p.L117R	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3949					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)					GAGTTTGCTAAGTTCCACCAA	0.383									Kartagener_syndrome				C	13729585	A	C	13729585	3	2	88	1	0	0	0	0	1	0	0	0	4604	72	3	5	2072	5	DNAH5	5	13729585	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	4606779	13729585	167185675	257	57679											
DNAH5	1767	broad.mit.edu	37	chr5	13751371	13751371	+	Splice_Site	DEL	T	T	-													ccttgtcaccaactttcaccTtttttataaaaagaaattta							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:13751371delT	uc003jfd.2	-	65	11071	c.11029_splice	c.e65-1	p.V3677_splice	DNAH5_uc003jfc.2_Splice_Site	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						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)					AACTTTCACCttttttataaa	0.318									Kartagener_syndrome				-	13751371	T	-	13751371	8	5	88	1	0	1	0	1	0	0	1	0	4604	1623	56	0	2907	0	DNAH5	5	13751371	Splice_Site	DEL	T	TCGA-BR-8382-01A-11D-2394-08	21786	13751371	167163889	258	57680											
TRIO	7204	broad.mit.edu	37	chr5	14498708	14498708	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgtgcatcgctgtcaatgAcatgggttcagcctcatcgt	10	12	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:14498708A>C	uc003jff.2	+	53	8297	c.8291A>C	c.(8290-8292)GAC>GCC	p.D2764A	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2764	Ig-like C2-type.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GCTGTCAATGACATGGGTTCA	0.582													C	14498708	A	C	14498708	3	2	88	1	0	0	0	0	1	0	0	0	16549	275	10	5	8501	5	TRIO	5	14498708	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	747337	14498708	166416552	259	57681											
PDZD2	23037	broad.mit.edu	37	chr5	31799657	31799658	+	Frame_Shift_Ins	INS	-	-	G													gactatggtgaaaagcgcagINSggggggcaagaagaggaaaa							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:31799656_31799657A>AG	uc003jhl.3	+	1	689_690	c.301_302A>AG	c.(301-303)aggfs	p.R101fs	PDZD2_uc003jhm.3_Frame_Shift_Ins_p.R101fs	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	101	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574													G	31799658	-	G	31799657	7	5	88	1	0	1	1	0	0	0	0	0	11701	1000	35	0	304	0	PDZD2	5	31799657	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	17300949	31799657	149115603	260	57682											
C5orf42	65250	broad.mit.edu	37	chr5	37183092	37183092	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tagtgctaaaggaagatcttCttgagggttaatatcattgc	10	5	3	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:37183092C>A	uc011cpa.1	-	26	5422	c.5191G>T	c.(5191-5193)GAA>TAA	p.E1731*	C5orf42_uc011coy.1_Nonsense_Mutation_p.E232*|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Nonsense_Mutation_p.E806*|C5orf42_uc011cpb.1_Nonsense_Mutation_p.E612*	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1731										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)			GGAAGATCTTCTTGAGGGTTA	0.373													A	37183092	C	A	37183092	4	1	88	1	0	0	0	0	0	1	0	0	2301	922	32	5	4510	5	C5orf42	5	37183092	Nonsense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	5383435	37183092	143732168	261	57683											
RICTOR	253260	broad.mit.edu	37	chr5	38960545	38960545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaactggcaacctacaacCgtgagctgtttggccttggc	11	11	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:38960545C>T	uc003jlp.2	-	20	1830	c.1806G>A	c.(1804-1806)ACG>ACA	p.T602T	RICTOR_uc003jlo.2_Silent_p.T602T|RICTOR_uc010ivf.2_Silent_p.T317T	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	602					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					AACCTACAACCGTGAGCTGTT	0.378													T	38960545	C	T	38960545	2	4	88	1	0	0	0	0	0	0	0	1	13358	639	23	1		1	RICTOR	5	38960545	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1777453	38960545	141954715	262	57684											
MGC42105	167359	broad.mit.edu	37	chr5	43280418	43280418	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtgtcagagccctgccacCgactcatccgaggagtcctt	10	15	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:43280418C>T	uc003jno.2	+	4	1779	c.898C>T	c.(898-900)CGA>TGA	p.R300*		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	serine/threonine-protein kinase NIM1	300	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1)	9						GCCCTGCCACCGACTCATCCG	0.557													T	43280418	C	T	43280418	4	4	88	1	0	0	0	0	0	1	0	0	9552	644	23	1	908	1	MGC42105	5	43280418	Nonsense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	4319873	43280418	137634842	263	57685											
GPBP1	65056	broad.mit.edu	37	chr5	56545258	56545260	+	In_Frame_Del	DEL	CTC	CTC	-													taatcgctcaaattcctcttCtcctgttgacaaacttaatc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:56545257_56545259TCTC>T	uc003jrk.4	+	7	904_906	c.847_849TCTC>T	c.(847-849)tct>T	p.S283del	GPBP1_uc003jrh.4_In_Frame_Del_p.S276del|GPBP1_uc003jri.4_In_Frame_Del_p.S105del|GPBP1_uc003jrj.4_Intron|GPBP1_uc021xyv.1_In_Frame_Del_p.S105del	NM_001127236	NP_001190175	Q86WP2	GPBP1_HUMAN	Homo sapiens GC-rich promoter binding protein 1 (GPBP1), transcript variant 2, mRNA.	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.S276F(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		AAATTCCTCTTCTCCTGTTGACA	0.374													-	56545260	CTC	-	56545258	7	5	88	1	0	1	0	1	0	0	0	0	6595	913	32	0	878	0	GPBP1	5	56545258	In_Frame_Del	DEL	CTC	TCGA-BR-8382-01A-11D-2394-08	13264840	56545258	124370002	264	57686											
PDE4D	5144	broad.mit.edu	37	chr5	59284456	59284456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggggaagctgaatattgCgacatgaaagtctccggaca	14	7	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:59284456C>T	uc003jsb.2	-	3	344	c.131G>A	c.(130-132)CGC>CAC	p.R44H	PDE4D_uc010iwj.1_Missense_Mutation_p.R44H|PDE4D_uc003jse.1_Missense_Mutation_p.R56H	NM_006203	NP_006194	Q08499	PDE4D_HUMAN	phosphodiesterase 4D isoform 2	Error:Variant_position_missing_in_Q08499_after_alignment					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CTGAATATTGCGACATGAAAG	0.483													T	59284456	C	T	59284456	3	4	88	1	0	0	0	0	1	0	0	0	11642	768	27	1	2685	1	PDE4D	5	59284456	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2739198	59284456	121630804	265	57687											
HTR1A	3350	broad.mit.edu	37	chr5	63257400	63257400	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgcattgcccagcaccgcGcagaagatgagcgtgcccag	12	15	0	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:63257400G>A	uc011cqt.1	-	1	147	c.147C>T	c.(145-147)TGC>TGT	p.C49C		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	49	Helical; Name=1; (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCAGCACCGCGCAGAAGATGA	0.607													A	63257400	G	A	63257400	2	1	88	1	0	0	0	0	0	0	0	1	7436	1079	38	1		1	HTR1A	5	63257400	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	3972944	63257400	117657860	266	57688											
MARVELD2	153562	broad.mit.edu	37	chr5	68728813	68728813	+	Frame_Shift_Del	DEL	T	T	-													aagctgtgttccaagaccagTtttcagagtacaaagagctg							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:68728812_68728812GT>G	uc003jwq.3	+	4	1469	c.1395_1395GT>G	c.(1393-1395)cagfs	p.Q465fs	MARVELD2_uc010ixf.3_Frame_Shift_Del_p.Q453fs|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	465					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TCCAAGACCAGTTTTCAGAGT	0.428													-	68728813	T	-	68728813	7	5	88	1	0	1	0	1	0	0	0	0	9318	1725	60	0	1410	0	MARVELD2	5	68728813	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	5471413	68728813	112186447	267	57689											
ZNF366	167465	broad.mit.edu	37	chr5	71756924	71756924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtagaattggaagcccaCgttgcacaggtcgatcatct	12	10	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:71756924C>T	uc003kce.1	-	2	586	c.400G>A	c.(400-402)GTG>ATG	p.V134M		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGGAAGCCCACGTTGCACAGG	0.607													T	71756924	C	T	71756924	3	4	88	1	0	0	0	0	1	0	0	0	17867	536	19	1	1850	1	ZNF366	5	71756924	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	3028111	71756924	109158336	268	57690											
GFM2	84340	broad.mit.edu	37	chr5	74034388	74034388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatagtgcctgagtaaatgcGcataaaaaccagtggtcctc	9	9	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:74034388G>A	uc003kdh.1	-	13	1463	c.1159C>T	c.(1159-1161)CGC>TGC	p.R387C	GFM2_uc003kdi.1_Intron|GFM2_uc010izj.1_Missense_Mutation_p.R419C|GFM2_uc010izk.1_RNA|GFM2_uc003kdj.1_Missense_Mutation_p.R387C	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	mitochondrial elongation factor G2 isoform 1	387					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity				0		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GAGTAAATGCGCATAAAAACC	0.363													A	74034388	G	A	74034388	3	1	88	1	0	0	0	0	1	0	0	0	6342	1087	38	1	1248	1	GFM2	5	74034388	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2277464	74034388	106880872	269	57691											
COL4A3BP	10087	broad.mit.edu	37	chr5	74681746	74681746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcccagtcattgcgaacGtcaacattccagaaataatt	5	11	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:74681746G>A	uc011csu.1	-	13	1820	c.1398C>T	c.(1396-1398)GAC>GAT	p.D466D	COL4A3BP_uc003kds.2_Silent_p.D440D|COL4A3BP_uc003kdt.2_Silent_p.D594D|COL4A3BP_uc003kdu.2_Silent_p.D466D	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	alpha 3 type IV collagen binding protein isoform	466	START.				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			skin(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		CATTGCGAACGTCAACATTCC	0.333													A	74681746	G	A	74681746	2	1	88	1	0	0	0	0	0	0	0	1	3692	1136	40	1		1	COL4A3BP	5	74681746	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	647358	74681746	106233514	270	57692											
TTC37	9652	broad.mit.edu	37	chr5	94852450	94852450	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagtctcactgcttttttcAgacactgaaaagaagttaaa	7	8	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:94852450A>G	uc003klb.2	-	23	2711	c.2441T>C	c.(2440-2442)CTG>CCG	p.L814P		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	814	TPR 13.						binding			ovary(3)|pancreas(1)	4						TGCTTTTTTCAGACACTGAAA	0.318													G	94852450	A	G	94852450	3	3	88	1	0	0	0	0	1	0	0	0	16702	188	7	3	2337	3	TTC37	5	94852450	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	20170704	94852450	86062810	271	57693											
SLCO6A1	133482	broad.mit.edu	37	chr5	101834417	101834417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agataccggtgttttttcccGggcttcgaggacttcggggt	14	9	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:101834417G>A	uc003knn.2	-	1	304	c.132C>T	c.(130-132)CCC>CCT	p.P44P	SLCO6A1_uc003kno.2_Silent_p.P44P|SLCO6A1_uc003knp.2_Silent_p.P44P|SLCO6A1_uc003knq.2_Silent_p.P44P	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	44	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GTTTTTTCCCGGGCTTCGAGG	0.572													A	101834417	G	A	101834417	2	1	88	1	0	0	0	0	0	0	0	1	14732	1103	39	1		1	SLCO6A1	5	101834417	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	6981967	101834417	79080843	272	57694											
MCC	4163	broad.mit.edu	37	chr5	112399732	112399732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggctgcacgctgcagccgGccacggcaaaggctccccca	13	17	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:112399732G>A	uc003kqj.3	-	12	2122	c.1592C>T	c.(1591-1593)GCC>GTC	p.A531V	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.A721V|MCC_uc011cwb.1_Missense_Mutation_p.A531V	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	531					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GCTGCAGCCGGCCACGGCAAA	0.627													A	112399732	G	A	112399732	3	1	88	1	0	0	0	0	1	0	0	0	9373	1203	42	2	921	2	MCC	5	112399732	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	10565315	112399732	68515528	273	57695											
SLC12A2	6558	broad.mit.edu	37	chr5	127487003	127487003	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcaattctttgttgcatagtAatgttcgtcattaactggtg	9	6	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:127487003A>T	uc003kus.2	+	14	2342	c.2178A>T	c.(2176-2178)GTA>GTT	p.V726V	SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Silent_p.V726V	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	726	Helical; (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			ovary(3)	3		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTTGCATAGTAATGTTCGTCA	0.368													T	127487003	A	T	127487003	2	4	88	1	0	0	0	0	0	0	0	1	14383	349	13	5		5	SLC12A2	5	127487003	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	15087271	127487003	53428257	274	57696											
ADAMTS19	171019	broad.mit.edu	37	chr5	129037216	129037216	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggactgcattgggcccaaGcccgcctctgcccagcgctg	13	16	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:129037216G>T	uc003kvb.1	+	20	3072	c.3072G>T	c.(3070-3072)AAG>AAT	p.K1024N	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1024	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TTGGGCCCAAGCCCGCCTCTG	0.582													T	129037216	G	T	129037216	3	4	88	1	0	0	0	0	1	0	0	0	264	962	34	5	3150	5	ADAMTS19	5	129037216	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1550213	129037216	51878044	275	57697											
PDLIM4	8572	broad.mit.edu	37	chr5	131606734	131606734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccctcacaatggcagcagcGaggccaccctgccagcccag	10	18	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:131606734G>A	uc003kwn.2	+	4	531	c.454G>A	c.(454-456)GAG>AAG	p.E152K	uc003kwm.3_Intron|PDLIM4_uc003kwp.2_Missense_Mutation_p.E152K|PDLIM4_uc003kwo.2_Missense_Mutation_p.E152K	NM_003687	NP_003678	P50479	PDLI4_HUMAN	PDZ and LIM domain 4 isoform 1	152							protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGGCAGCAGCGAGGCCACCCT	0.622													A	131606734	G	A	131606734	3	1	88	1	0	0	0	0	1	0	0	0	11682	1059	37	1	468	1	PDLIM4	5	131606734	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2569518	131606734	49308526	276	57698											
RAD50	10111	broad.mit.edu	37	chr5	131973851	131973851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggcggaattataactaccGagtggtgatgctgaagggag	15	5	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:131973851G>A	uc003kxi.2	+	23	3941	c.3554G>A	c.(3553-3555)CGA>CAA	p.R1185Q	RAD50_uc003kxh.2_Missense_Mutation_p.R1046Q	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	1185					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TATAACTACCGAGTGGTGATG	0.453								Homologous_recombination					A	131973851	G	A	131973851	3	1	88	1	0	0	0	0	1	0	0	0	12984	1058	37	1	3644	1	RAD50	5	131973851	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	367117	131973851	48941409	277	57699											
KIF3A	11127	broad.mit.edu	37	chr5	132061858	132061858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atccttgcccaaaaggtcacGaacttcttcattatatattt	4	10	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:132061858G>A	uc003kxo.2	-	4	626	c.472C>T	c.(472-474)CGT>TGT	p.R158C	KIF3A_uc003kxn.2_Missense_Mutation_p.R117C|KIF3A_uc011cxf.1_Missense_Mutation_p.R158C|KIF3A_uc003kxp.2_Missense_Mutation_p.R158C	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	158	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			pancreas(1)	1		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAAAGGTCACGAACTTCTTCA	0.303													A	132061858	G	A	132061858	3	1	88	1	0	0	0	0	1	0	0	0	8300	1058	37	1	1683	1	KIF3A	5	132061858	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	88007	132061858	48853402	278	57700											
TRPC7	57113	broad.mit.edu	37	chr5	135567162	135567162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcgatgaatttgtggtcGtatttcagcaccactgagat	9	8	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:135567162G>A	uc003lbn.1	-	7	1920	c.1917C>T	c.(1915-1917)TAC>TAT	p.Y639Y	TRPC7_uc010jef.1_Silent_p.Y576Y|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.Y570Y|TRPC7_uc010jei.1_Silent_p.Y515Y|TRPC7_uc010jej.1_Silent_p.Y191Y	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	640	Extracellular (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTTGTGGTCGTATTTCAGCA	0.403													A	135567162	G	A	135567162	2	1	88	1	0	0	0	0	0	0	0	1	16581	1140	40	1		1	TRPC7	5	135567162	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	3505304	135567162	45348098	279	57701											
GFRA3	2676	broad.mit.edu	37	chr5	137599951	137599951	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctataatgggagcctcaccAaggctgcgggcacggtgaac	13	11	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:137599951A>G	uc003lcn.2	-	2	518	c.378T>C	c.(376-378)CTT>CTC	p.L126L	GFRA3_uc003lco.2_Silent_p.L126L	NM_001496	NP_001487	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3 preproprotein	126					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GAGCCTCACCAAGGCTGCGGG	0.537													G	137599951	A	G	137599951	2	3	88	1	0	0	0	0	0	0	0	1	6349	144	5	3		3	GFRA3	5	137599951	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	2032789	137599951	43315309	280	57702											
GFRA3	2676	broad.mit.edu	37	chr5	137599991	137599991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtccaatagatgtccaagCaggcaacctggttcttcatg	10	11	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:137599991C>T	uc003lcn.2	-	2	478	c.338G>A	c.(337-339)TGC>TAC	p.C113Y	GFRA3_uc003lco.2_Missense_Mutation_p.C113Y	NM_001496	NP_001487	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3 preproprotein	113					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GATGTCCAAGCAGGCAACCTG	0.572													T	137599991	C	T	137599991	3	4	88	1	0	0	0	0	1	0	0	0	6349	710	25	2	892	2	GFRA3	5	137599991	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	40	137599991	43315269	281	57703											
KDM3B	51780	broad.mit.edu	37	chr5	137708479	137708479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatgggcgccccgtgaggaCccagtccttctccagggcat	13	14	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:137708479C>T	uc003lcy.1	+	2	509	c.309C>T	c.(307-309)GAC>GAT	p.D103D	KDM3B_uc010jew.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	103					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						CCCGTGAGGACCCAGTCCTTC	0.522													T	137708479	C	T	137708479	2	4	88	1	0	0	0	0	0	0	0	1	8127	506	18	4		4	KDM3B	5	137708479	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	108488	137708479	43206781	282	57704											
DNAJC18	202052	broad.mit.edu	37	chr5	138764375	138764375	+	Splice_Site	DEL	A	A	-													tttctgcatttcttgatcctAaaaaaaatcacaagcatgta							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373													-	138764375	A	-	138764375	8	5	88	1	0	1	0	1	0	0	1	0	4637	377	13	0		0	DNAJC18	5	138764375	Splice_Site	DEL	A	TCGA-BR-8382-01A-11D-2394-08	1055896	138764375	42150885	283	57705											
PCDHA7	56141	broad.mit.edu	37	chr5	140215698	140215698	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtggcactggtggcgcagTgagagagcttgtgccgcggt	20	8	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140215698T>C	uc003lhq.2	+	1	1730	c.1730T>C	c.(1729-1731)GTG>GCG	p.V577A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.V577A	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	577	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCGCAGTGAGAGAGCTT	0.652													C	140215698	T	C	140215698	3	2	88	1	0	0	0	0	1	0	0	0	11529	1696	59	3	1732	3	PCDHA7	5	140215698	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	1451323	140215698	40699562	284	57706											
PCDHA8	56140	broad.mit.edu	37	chr5	140222458	140222458	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacggagagcggcaaggtgTacgcgctgcagccgctggac	16	12	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140222458T>C	uc003lhs.2	+	1	1552	c.1552T>C	c.(1552-1554)TAC>CAC	p.Y518H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.Y518H	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	518	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCAAGGTGTACGCGCTGCA	0.682													C	140222458	T	C	140222458	3	2	88	1	0	0	0	0	1	0	0	0	11530	1638	57	3	1554	3	PCDHA8	5	140222458	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	6760	140222458	40692802	285	57707											
PCDHA11	56138	broad.mit.edu	37	chr5	140249249	140249249	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattcaccaacaaatggtaaGcagattaaaagactgtcact	7	8	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140249249G>A	uc003lia.2	+	1	1419	c.561G>A	c.(559-561)AAG>AAA	p.K187K	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.K187K	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	187	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAATGGTAAGCAGATTAAAA	0.383													A	140249249	G	A	140249249	2	1	88	1	0	0	0	0	0	0	0	1	11521	962	34	2		2	PCDHA11	5	140249249	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	26791	140249249	40666011	286	57708											
PCDHA12	56137	broad.mit.edu	37	chr5	140256404	140256404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaggtggccgacgtgaaCgacaatgcgcctgcgttcgc	16	11	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140256404C>T	uc003lic.2	+	1	1474	c.1347C>T	c.(1345-1347)AAC>AAT	p.N449N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.N449N	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	449	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGACGTGAACGACAATGCGC	0.657													T	140256404	C	T	140256404	2	4	88	1	0	0	0	0	0	0	0	1	11522	535	19	1		1	PCDHA12	5	140256404	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	7155	140256404	40658856	287	57709											
PCDHA12	56137	broad.mit.edu	37	chr5	140257030	140257030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggaccacggtgagcccgCgctgacgtccacggccacgg	15	15	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140257030C>T	uc003lic.2	+	1	2100	c.1973C>T	c.(1972-1974)GCG>GTG	p.A658V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A658V	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	658	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCCCGCGCTGACGTCC	0.692													T	140257030	C	T	140257030	3	4	88	1	0	0	0	0	1	0	0	0	11522	768	27	1	1975	1	PCDHA12	5	140257030	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	626	140257030	40658230	288	57710											
PCDHAC2	56134	broad.mit.edu	37	chr5	140346798	140346798	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaactcaccgcgtttcccGcggcccaactaccagcttca	7	18	2	0	rs139717123		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140346798G>A	uc003lii.2	+	1	687	c.447G>A	c.(445-447)CCG>CCA	p.P149P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Silent_p.P149P	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	149	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGTTTCCCGCGGCCCAACT	0.617													A	140346798	G	A	140346798	2	1	88	1	0	0	0	0	0	0	0	1	11533	1074	38	1		1	PCDHAC2	5	140346798	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	89768	140346798	40568462	289	57711											
PCDHB2	56133	broad.mit.edu	37	chr5	140474496	140474496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctattcagtggccgaggaaaCggagagtggctcctttgtgg	15	8	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140474496C>T	uc003lil.2	+	1	260	c.122C>T	c.(121-123)ACG>ATG	p.T41M	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	41	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGAGGAAACGGAGAGTGGC	0.512													T	140474496	C	T	140474496	3	4	88	1	0	0	0	0	1	0	0	0	11542	536	19	1	124	1	PCDHB2	5	140474496	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	127698	140474496	40440764	290	57712											
PCDHB3	56132	broad.mit.edu	37	chr5	140480564	140480564	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacattttcagatattactgCaaaaccctttgcaattcgtt	4	9	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140480564C>T	uc003lio.2	+	1	331	c.331C>T	c.(331-333)CAA>TAA	p.Q111*	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	111	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATATTACTGCAAAACCCTTT	0.418													T	140480564	C	T	140480564	4	4	88	1	0	0	0	0	0	1	0	0	11543	711	25	2	333	2	PCDHB3	5	140480564	Nonsense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	6068	140480564	40434696	291	57713											
PCDHB3	56132	broad.mit.edu	37	chr5	140482112	140482112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatggcgaagtgcgcaccGccaggctgctgagcgagcgc	15	13	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140482112G>A	uc003lio.2	+	1	1879	c.1879G>A	c.(1879-1881)GCC>ACC	p.A627T	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	627	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTGCGCACCGCCAGGCTGCT	0.701													A	140482112	G	A	140482112	3	1	88	1	0	0	0	0	1	0	0	0	11543	1087	38	1	1881	1	PCDHB3	5	140482112	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1548	140482112	40433148	292	57714											
PCDHB16	57717	broad.mit.edu	37	chr5	140564388	140564388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtcccagagctaccaatacGaggtgtgtctgacaggaggc	13	10	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140564388G>A	uc003liv.2	+	1	3409	c.2254G>A	c.(2254-2256)GAG>AAG	p.E752K	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	752	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACCAATACGAGGTGTGTCT	0.572													A	140564388	G	A	140564388	3	1	88	1	0	0	0	0	1	0	0	0	11541	1059	37	1	2256	1	PCDHB16	5	140564388	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	82276	140564388	40350872	293	57715											
PCDHB11	56125	broad.mit.edu	37	chr5	140580935	140580935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcaggctttcgacttcCgcgtgggcgccacagaccgc	12	17	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140580935C>T	uc003liy.2	+	1	1588	c.1588C>T	c.(1588-1590)CGC>TGC	p.R530C	PCDHB11_uc011daj.1_Missense_Mutation_p.R165C	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	530	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCGACTTCCGCGTGGGCGC	0.672													T	140580935	C	T	140580935	3	4	88	1	0	0	0	0	1	0	0	0	11536	652	23	1	1590	1	PCDHB11	5	140580935	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	16547	140580935	40334325	294	57716											
PCDHB12	56124	broad.mit.edu	37	chr5	140590609	140590609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtgctcctgttcgtggcGgtgcggctgtgcaggaggag	19	9	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140590609G>A	uc003liz.2	+	1	2319	c.2130G>A	c.(2128-2130)GCG>GCA	p.A710A	PCDHB12_uc011dak.1_Silent_p.A373A|PCDHB13_uc003lja.1_5'Flank	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	710	Helical; (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGTGGCGGTGCGGCTGT	0.692													A	140590609	G	A	140590609	2	1	88	1	0	0	0	0	0	0	0	1	11537	1103	39	1		1	PCDHB12	5	140590609	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	9674	140590609	40324651	295	57717											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751609	140751609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccaacgtgagcctgcgcGtgttggtggacgaccgcaac	15	13	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140751609G>A	uc003ljw.1	+	1	1648	c.1648G>A	c.(1648-1650)GTG>ATG	p.V550M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.V550M|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	550	Extracellular (Potential).|Cadherin 5.				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)			GAGCCTGCGCGTGTTGGTGGA	0.667													A	140751609	G	A	140751609	3	1	88	1	0	0	0	0	1	0	0	0	11564	1145	40	1	1650	1	PCDHGB3	5	140751609	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	161000	140751609	40163651	296	57718											
PCDHGA7	56108	broad.mit.edu	37	chr5	140764749	140764749	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgaggtctccctcaccgcGgactctcggaagagtcacct	10	15	4	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140764749G>A	uc003lka.1	+	1	2283	c.2283G>A	c.(2281-2283)GCG>GCA	p.A761A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGB4_uc003lkc.1_5'Flank|PCDHGA7_uc003ljz.1_Silent_p.A761A|PCDHGB4_uc011dav.1_5'Flank	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	761	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCACCGCGGACTCTCGGA	0.557													A	140764749	G	A	140764749	2	1	88	1	0	0	0	0	0	0	0	1	11559	1103	39	1		1	PCDHGA7	5	140764749	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	13140	140764749	40150511	297	57719											
PCDHGA9	56107	broad.mit.edu	37	chr5	140783914	140783914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctacctcccggaaaacaaCgccagaggtacttccatctt	7	14	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140783914C>T	uc003lkh.1	+	1	1395	c.1395C>T	c.(1393-1395)AAC>AAT	p.N465N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.N465N	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	465	Extracellular (Potential).|Cadherin 5.				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)			CGGAAAACAACGCCAGAGGTA	0.463													T	140783914	C	T	140783914	2	4	88	1	0	0	0	0	0	0	0	1	11561	535	19	1		1	PCDHGA9	5	140783914	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	19165	140783914	40131346	298	57720											
PCDHGC5	56097	broad.mit.edu	37	chr5	140870531	140870531	+	Frame_Shift_Del	DEL	C	C	-													gccagactgggaacactcagCcccccagcgtctccctcgct							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140870530_140870530GC>G	uc003lla.2	+	0	1723	c.1723_1723GC>G	c.(1723-1725)gccfs	p.A575fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Frame_Shift_Del_p.A575fs	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	575	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACACTCAGCCCCCCAGCG	0.592													-	140870531	C	-	140870531	7	5	88	1	0	1	0	1	0	0	0	0	11571	739	26	0	1726	0	PCDHGC5	5	140870531	Frame_Shift_Del	DEL	C	TCGA-BR-8382-01A-11D-2394-08	86617	140870531	40044729	299	57721	254	2									
PCDHGC5	56097	broad.mit.edu	37	chr5	140870540	140870540	+	Missense_Mutation	SNP	G	G	A													ggaacactcagccccccagcGtctccctcgctctgctcctc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140870540G>A	uc003lla.1	+	1	1733	c.1733G>A	c.(1732-1734)CGT>CAT	p.R578H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.R578H	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	578	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCCCCAGCGTCTCCCTCGC	0.587													A	140870540	G	A	140870540	3	1	88	1	0	0	0	0	1	0	0	0	11571	1145	40	1	1735	1	PCDHGC5	5	140870540	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	9	140870540	40044720	300	57722	254	2									
FBXO38	81545	broad.mit.edu	37	chr5	147778563	147778563	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttctttctctcacaaaggTacctccctctgcaggatatc	6	13	4	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:147778563T>C	uc003lpf.1	+	3	250	c.130T>C	c.(130-132)TAC>CAC	p.Y44H	FBXO38_uc003lpg.1_Missense_Mutation_p.Y44H|FBXO38_uc003lph.2_Missense_Mutation_p.Y44H	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	44	F-box.					cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACAAAGGTACCTCCCTCT	0.403													C	147778563	T	C	147778563	3	2	88	1	0	0	0	0	1	0	0	0	5746	1652	57	3	136	3	FBXO38	5	147778563	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	6908023	147778563	33136697	301	57723											
GLRA1	2741	broad.mit.edu	37	chr5	151239373	151239373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagaggacattcccattcCgggagatccttagcaatttg	10	9	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:151239373C>T	uc003lut.2	-	4	736	c.449G>A	c.(448-450)CGG>CAG	p.R150Q	GLRA1_uc003lur.2_Missense_Mutation_p.R150Q|GLRA1_uc003lus.2_Missense_Mutation_p.R67Q	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	glycine receptor, alpha 1 isoform 1 precursor	150	Extracellular (Probable).				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			ovary(1)|central_nervous_system(1)	2		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATTCCCATTCCGGGAGATCCT	0.522													T	151239373	C	T	151239373	3	4	88	1	0	0	0	0	1	0	0	0	6454	652	23	1	948	1	GLRA1	5	151239373	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	3460810	151239373	29675887	302	57724											
RNF145	153830	broad.mit.edu	37	chr5	158586021	158586021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaaaatgactgcaaggcGtgatcacagcagatttcatg	11	7	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:158586021G>A	uc003lxp.2	-	11	1962	c.1649C>T	c.(1648-1650)ACG>ATG	p.T550M	RNF145_uc011ddy.1_Missense_Mutation_p.T564M|RNF145_uc003lxo.1_Missense_Mutation_p.T578M|RNF145_uc011ddz.1_Missense_Mutation_p.T567M|RNF145_uc010jiq.1_Missense_Mutation_p.T580M	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	550	RING-type; atypical.					integral to membrane	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTGCAAGGCGTGATCACAGC	0.448													A	158586021	G	A	158586021	3	1	88	1	0	0	0	0	1	0	0	0	13447	1145	40	1	346	1	RNF145	5	158586021	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	7346648	158586021	22329239	303	57725											
CCNJL	79616	broad.mit.edu	37	chr5	159686753	159686753	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttgctccaacttggggacGtggtcttcccgatcctcgaa	10	12	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:159686753G>A	uc003lyb.1	-	5	702	c.450C>T	c.(448-450)CAC>CAT	p.H150H	CCNJL_uc011dee.1_Silent_p.H102H|CCNJL_uc003lyc.1_RNA|CCNJL_uc011def.1_Silent_p.H102H	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	cyclin J-like	150	Cyclin N-terminal.					nucleus					0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTTGGGGACGTGGTCTTCCC	0.562													A	159686753	G	A	159686753	2	1	88	1	0	0	0	0	0	0	0	1	2929	1136	40	1		1	CCNJL	5	159686753	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1100732	159686753	21228507	304	57726											
STK10	6793	broad.mit.edu	37	chr5	171488254	171488254	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggtcctccttctgctTggctacaaagtcccggtcct	8	16	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:171488254T>G	uc003mbo.1	-	14	2401	c.2101A>C	c.(2101-2103)AAG>CAG	p.K701Q		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	701	Potential.						ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCTTCTGCTTGGCTACAAAG	0.577													G	171488254	T	G	171488254	3	3	88	1	0	0	0	0	1	0	0	0	15285	1821	63	5	829	5	STK10	5	171488254	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	11801501	171488254	9427006	305	57727											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171821626	171821626	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtcccggatgtggcttcGtctgaagagaatcttacctg	11	11	2	2	rs61755907		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:171821626G>A	uc003mbr.2	-	4	421	c.250C>T	c.(250-252)CGA>TGA	p.R84*	SH3PXD2B_uc003mbs.1_Nonsense_Mutation_p.R84*	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	84	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATGTGGCTTCGTCTGAAGAGA	0.512													A	171821626	G	A	171821626	4	1	88	1	0	0	0	0	0	1	0	0	14257	1153	40	1	2525	1	SH3PXD2B	5	171821626	Nonsense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	333372	171821626	9093634	306	57728											
DUSP1	1843	broad.mit.edu	37	chr5	172195896	172195896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggtcgagcacagccatggCggggctcccagcctctgccg	14	16	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:172195896C>T	uc003mbv.1	-	4	1221	c.973G>A	c.(973-975)GCC>ACC	p.A325T	DUSP1_uc011dez.1_Missense_Mutation_p.A183T|DUSP1_uc003mbu.1_Missense_Mutation_p.A213T	NM_004417	NP_004408	P28562	DUS1_HUMAN	dual specificity phosphatase 1	325	Tyrosine-protein phosphatase.				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			breast(2)|ovary(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		ACAGCCATGGCGGGGCTCCCA	0.617													T	172195896	C	T	172195896	3	4	88	1	0	0	0	0	1	0	0	0	4809	768	27	1	134	1	DUSP1	5	172195896	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	374270	172195896	8719364	307	57729											
CLTB	1212	broad.mit.edu	37	chr5	175824994	175824994	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgctctcaggctcctgggTcagcctgtcagcctgggcaa	13	13	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:175824994T>C	uc003meh.2	-	4	464	c.289A>G	c.(289-291)ACC>GCC	p.T97A	CLTB_uc003mei.2_Missense_Mutation_p.T97A|CLTB_uc011dfn.1_RNA	NM_007097	NP_009028	P09497	CLCB_HUMAN	clathrin, light polypeptide isoform b	97	Involved in binding clathrin heavy chain.				intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity				0	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		GGCTCCTGGGTCAGCCTGTCA	0.647													C	175824994	T	C	175824994	3	2	88	1	0	0	0	0	1	0	0	0	3565	1667	58	3	416	3	CLTB	5	175824994	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	3629098	175824994	5090266	308	57730											
HNRNPH1	3187	broad.mit.edu	37	chr5	179045188	179045188	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcctctcaaagccagctcCtctgccaatgctgttatacc	5	16	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:179045188C>A	uc003mkf.3	-	6	779	c.673G>T	c.(673-675)GGA>TGA	p.G225*	HNRNPH1_uc011dgn.1_5'Flank|HNRNPH1_uc003mkg.3_Nonsense_Mutation_p.G133*|HNRNPH1_uc003mke.3_Nonsense_Mutation_p.G225*|HNRNPH1_uc003mkh.3_Nonsense_Mutation_p.G225*	NM_005520	NP_005511	P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1	225					regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding				0						AAGCCAGCTCCTCTGCCAATG	0.507													A	179045188	C	A	179045188	4	1	88	1	0	0	0	0	0	1	0	0	7266	690	24	5	708	5	HNRNPH1	5	179045188	Nonsense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	3220194	179045188	1870072	309	57731											
C5orf45	51149	broad.mit.edu	37	chr5	179280382	179280382	+	Frame_Shift_Del	DEL	A	A	-													gttttgtaggactcacctgcAaaaaggactgcttctctcca							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:179280381_179280381CA>C	uc003mla.3	-	1	167	c.123_123TG>G	c.(121-123)ttgfs	p.L41fs	C5orf45_uc003mky.2_Frame_Shift_Del_p.A12fs|C5orf45_uc011dgt.1_Frame_Shift_Del_p.L41fs|C5orf45_uc011dgu.1_Frame_Shift_Del_p.L41fs|C5orf45_uc003mlc.3_Frame_Shift_Del_p.L41fs|C5orf45_uc003mlb.3_5'UTR	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN	Homo sapiens chromosome 5 open reading frame 45 (C5orf45), transcript variant 1, mRNA.	41										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GACTCACCTGCAAAAAGGACT	0.463													-	179280382	A	-	179280382	7	5	88	1	0	1	0	1	0	0	0	0	2304	131	5	0	933	0	C5orf45	5	179280382	Frame_Shift_Del	DEL	A	TCGA-BR-8382-01A-11D-2394-08	235194	179280382	1634878	310	57732											
TBC1D9B	23061	broad.mit.edu	37	chr5	179290716	179290716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcacattgcagggagcccGtgctgaccaccgagtaggag	13	12	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:179290716G>A	uc003mlh.2	-	22	3522	c.3485C>T	c.(3484-3486)ACG>ATG	p.T1162M	TBC1D9B_uc003mli.2_Missense_Mutation_p.T1145M|TBC1D9B_uc003mlj.2_Missense_Mutation_p.T1144M|TBC1D9B_uc003mlf.2_Missense_Mutation_p.T236M|TBC1D9B_uc003mlg.2_Missense_Mutation_p.T321M|TBC1D9B_uc011dgv.1_Missense_Mutation_p.T321M	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1162						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGGAGCCCGTGCTGACCAC	0.662													A	179290716	G	A	179290716	3	1	88	1	0	0	0	0	1	0	0	0	15625	1145	40	1	271	1	TBC1D9B	5	179290716	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	10334	179290716	1624544	311	57733											
TBC1D9B	23061	broad.mit.edu	37	chr5	179305416	179305416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtgctcgggcatggagcGgtgcaggtctcgctcgatct	17	10	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:179305416G>A	uc003mlh.2	-	10	1712	c.1675C>T	c.(1675-1677)CGC>TGC	p.R559C	TBC1D9B_uc003mli.2_Missense_Mutation_p.R559C|TBC1D9B_uc003mlj.2_Missense_Mutation_p.R559C	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	559	Rab-GAP TBC.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCATGGAGCGGTGCAGGTCT	0.622													A	179305416	G	A	179305416	3	1	88	1	0	0	0	0	1	0	0	0	15625	1116	39	1	2129	1	TBC1D9B	5	179305416	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	14700	179305416	1609844	312	57734											
BPHL	670	broad.mit.edu	37	chr6	3127585	3127585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattccaggcccccagatcgCgatttcccagcagacttttt	7	15	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:3127585C>T	uc003mva.2	+	3	370	c.321C>T	c.(319-321)CGC>CGT	p.R107R	BPHL_uc003muz.2_RNA|BPHL_uc011dht.1_RNA|BPHL_uc003muy.2_Silent_p.R90R	NM_004332	NP_004323	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like precursor	107					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity				0	Ovarian(93;0.0386)	all_hematologic(90;0.108)				CCCCAGATCGCGATTTCCCAG	0.527													T	3127585	C	T	3127585	2	4	88	1	0	0	0	0	0	0	0	1	1489	755	27	1		1	BPHL	6	3127585	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08		3127585	167987482	313	57735											
FAM50B	26240	broad.mit.edu	37	chr6	3850301	3850301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggtcagggagcgcgagCggcagctggccaagcgccag	17	14	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:3850301C>T	uc003mvu.2	+	2	368	c.256C>T	c.(256-258)CGG>TGG	p.R86W		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	86						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GGAGCGCGAGCGGCAGCTGGC	0.527													T	3850301	C	T	3850301	3	4	88	1	0	0	0	0	1	0	0	0	5578	759	27	1	258	1	FAM50B	6	3850301	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	722716	3850301	167264766	314	57736											
CDYL	9425	broad.mit.edu	37	chr6	4892244	4892244	+	Frame_Shift_Del	DEL	A	A	-													ttgggaaagaccacgaatccAaaaacagccagctgtttgct							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:4892243_4892243CA>C	uc003mwi.3	+	3	614	c.483_483CA>C	c.(481-483)tccfs	p.S161fs	CDYL_uc003mwj.3_Frame_Shift_Del_p.S107fs|CDYL_uc003mwk.3_Intron|CDYL_uc011dhx.2_5'UTR|CDYL_uc011dhy.2_5'UTR	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	Homo sapiens chromodomain protein, Y-like (CDYL), transcript variant 5, mRNA.	161					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		ACCACGAATCCAAAAACAGCC	0.493													-	4892244	A	-	4892244	7	5	88	1	0	1	0	1	0	0	0	0	3185	131	5	0	328	0	CDYL	6	4892244	Frame_Shift_Del	DEL	A	TCGA-BR-8382-01A-11D-2394-08	1041943	4892244	166222823	315	57737											
SYCP2L	221711	broad.mit.edu	37	chr6	10961554	10961554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagactcaataaactagagCgctttcaaaatttggttctt	6	7	3	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:10961554C>T	uc003mzo.2	+	27	2568	c.2272C>T	c.(2272-2274)CGC>TGC	p.R758C	SYCP2L_uc010jow.2_Missense_Mutation_p.R378C	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	758						nucleus				ovary(1)|skin(1)	2	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TAAACTAGAGCGCTTTCAAAA	0.383													T	10961554	C	T	10961554	3	4	88	1	0	0	0	0	1	0	0	0	15430	768	27	1	2378	1	SYCP2L	6	10961554	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	6069310	10961554	160153513	316	57738											
NEDD9	4739	broad.mit.edu	37	chr6	11193859	11193859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggagggatatcatagaCgtccttttggtatctggatg	13	5	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:11193859C>T	uc003mzv.2	-	3	693	c.526G>A	c.(526-528)GTC>ATC	p.V176I	NEDD9_uc010joz.2_Missense_Mutation_p.V176I|NEDD9_uc003mzw.3_Missense_Mutation_p.V30I	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	176	Interacts strongly with spindle- regulatory protein D1M1.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			ATATCATAGACGTCCTTTTGG	0.512													T	11193859	C	T	11193859	3	4	88	1	0	0	0	0	1	0	0	0	10313	536	19	1	1998	1	NEDD9	6	11193859	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	232305	11193859	159921208	317	57739											
HIVEP1	3096	broad.mit.edu	37	chr6	12089463	12089464	+	Frame_Shift_Ins	INS	-	-	A													ttaatggggcagaagtttcaINSaaaaaaggtaaattaaaatc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:12089462_12089463C>CA	uc003nac.3	+	2	265_266	c.86_87C>CA	c.(85-87)tcafs	p.S29fs		NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	29					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCAGAAGTTTCAAAAAAAGGTA	0.257													A	12089464	-	A	12089463	7	5	88	1	0	1	1	0	0	0	0	0	7186	117	5	0	93	0	HIVEP1	6	12089463	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	895604	12089463	159025604	318	57740											
RNF182	221687	broad.mit.edu	37	chr6	13977703	13977703	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccaagaggctggcctctcTggtcagtccttctcacacgt	9	16	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:13977703T>C	uc003nbe.2	+	3	771	c.353T>C	c.(352-354)CTG>CCG	p.L118P	RNF182_uc003nbf.2_Missense_Mutation_p.L118P|RNF182_uc003nbg.2_Missense_Mutation_p.L118P	NM_152737	NP_689950	Q8N6D2	RN182_HUMAN	ring finger protein 182	118						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			CTGGCCTCTCTGGTCAGTCCT	0.552													C	13977703	T	C	13977703	3	2	88	1	0	0	0	0	1	0	0	0	13466	1580	55	3	355	3	RNF182	6	13977703	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	1888240	13977703	157137364	319	57741											
KAAG1	353219	broad.mit.edu	37	chr6	24358064	24358064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcaccgcacccagggcgCgggatcgcctcctgaaacga	12	17	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:24358064C>T	uc003ndz.1	+	1	934	c.197C>T	c.(196-198)GCG>GTG	p.A66V	DCDC2_uc003ndx.2_5'UTR|DCDC2_uc003ndy.2_5'UTR	NM_181337	NP_851854	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	66					immune response						0						ACCCAGGGCGCGGGATCGCCT	0.662													T	24358064	C	T	24358064	3	4	88	1	0	0	0	0	1	0	0	0	7973	768	27	1	199	1	KAAG1	6	24358064	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	10380361	24358064	146757003	320	57742											
TRIM26	7726	broad.mit.edu	37	chr6	30153714	30153714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggaaggggaccaggcgcCgggtgaaggtggcagtgaag	20	7	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:30153714C>T	uc003npr.2	-	9	1768	c.1559G>A	c.(1558-1560)CGG>CAG	p.R520Q	TRIM26_uc003nps.2_Missense_Mutation_p.R520Q|TRIM26_uc010jry.2_Missense_Mutation_p.R250Q|TRIM26_uc003npt.2_Missense_Mutation_p.R520Q	NM_003449	NP_003440	Q12899	TRI26_HUMAN	tripartite motif-containing 26	520	B30.2/SPRY.						DNA binding|zinc ion binding			ovary(2)|lung(1)	3						GACCAGGCGCCGGGTGAAGGT	0.607													T	30153714	C	T	30153714	3	4	88	1	0	0	0	0	1	0	0	0	16497	652	23	1	64	1	TRIM26	6	30153714	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	5795650	30153714	140961353	321	57743											
MDC1	9656	broad.mit.edu	37	chr6	30671952	30671952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctatggcctcaggggtgaCggactggtctgtgggggtaa	18	7	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:30671952C>T	uc003nrg.3	-	10	5448	c.5008G>A	c.(5008-5010)GTC>ATC	p.V1670I	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.V1277I	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1670					cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						TCAGGGGTGACGGACTGGTCT	0.532								Other_conserved_DNA_damage_response_genes					T	30671952	C	T	30671952	3	4	88	1	0	0	0	0	1	0	0	0	9403	536	19	1	1285	1	MDC1	6	30671952	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	518238	30671952	140443115	322	57744											
GTF2H4	2968	broad.mit.edu	37	chr6	30877746	30877746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggctgctgagcggcctcCggatctggcacacacagctg	14	14	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:30877746C>T	uc003nsa.1	+	4	487	c.280C>T	c.(280-282)CGG>TGG	p.R94W	GTF2H4_uc010jsf.2_Missense_Mutation_p.R94W|GTF2H4_uc011dmv.1_Missense_Mutation_p.R38W|GTF2H4_uc003nsb.1_5'UTR|GTF2H4_uc011dmw.1_Missense_Mutation_p.R100W	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4,	94					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3						GAGCGGCCTCCGGATCTGGCA	0.577								NER					T	30877746	C	T	30877746	3	4	88	1	0	0	0	0	1	0	0	0	6865	643	23	1	290	1	GTF2H4	6	30877746	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	205794	30877746	140237321	323	57745											
LY6G6F	259215	broad.mit.edu	37	chr6	31683367	31683367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcgagggcagaccccaGccaggcctggaacagatcaa	14	12	1	2	rs143744153		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:31683367G>A	uc003nwb.1	+	5	891	c.891G>A	c.(889-891)CAG>CAA	p.Q297Q	BAT5_uc011dnz.1_5'Flank|LY6G6E_uc011dob.1_5'Flank|LY6G6E_uc003nwc.2_5'Flank|LY6G6E_uc003nwd.2_5'Flank|LY6G6E_uc003nwe.2_5'Flank|LY6G6D_uc003nwf.1_Silent_p.Q48Q|LY6G6D_uc003nwg.1_Silent_p.Q27Q	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	G6f protein precursor	Error:Variant_position_missing_in_Q5SQ64_after_alignment						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)	2						GCAGACCCCAGCCAGGCCTGG	0.582													A	31683367	G	A	31683367	2	1	88	1	0	0	0	0	0	0	0	1	9096	962	34	2		2	LY6G6F	6	31683367	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	805621	31683367	139431700	324	57746											
HSPA1L	3305	broad.mit.edu	37	chr6	31778622	31778622	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaggatggctgcttgtacCgcagccccatatgctacggc	11	13	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:31778622C>T	uc003nxh.2	-	2	1311	c.1128G>A	c.(1126-1128)GCG>GCA	p.A376A	HSPA1L_uc010jte.2_Silent_p.A376A	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	376					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						CTGCTTGTACCGCAGCCCCAT	0.607													T	31778622	C	T	31778622	2	4	88	1	0	0	0	0	0	0	0	1	7410	639	23	1		1	HSPA1L	6	31778622	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	95255	31778622	139336445	325	57747											
NOTCH4	4855	broad.mit.edu	37	chr6	32166740	32166740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcctagtgggggccggcGtcggtggggagctgactgag	20	10	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:32166740G>A	uc003obb.2	-	24	4637	c.4498C>T	c.(4498-4500)CGC>TGC	p.R1500C	NOTCH4_uc011dpt.1_5'Flank|NOTCH4_uc003oba.2_Missense_Mutation_p.R163C|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_5'Flank	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1500	Cytoplasmic (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						GGGGGCCGGCGTCGGTGGGGA	0.612													A	32166740	G	A	32166740	3	1	88	1	0	0	0	0	1	0	0	0	10551	1145	40	1	1541	1	NOTCH4	6	32166740	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	388118	32166740	138948327	326	57748											
DAXX	1616	broad.mit.edu	37	chr6	33288764	33288764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgttaacctctgggtagCgggtgccacggtaggggatg	17	9	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:33288764C>T	uc003oec.2	-	3	992	c.788G>A	c.(787-789)CGC>CAC	p.R263H	DAXX_uc011drd.1_Missense_Mutation_p.R188H|DAXX_uc011dre.1_Missense_Mutation_p.R275H|DAXX_uc003oed.2_Missense_Mutation_p.R263H|DAXX_uc010juw.2_Missense_Mutation_p.R188H	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	263				R -> H (in Ref. 5; AAC72843).	activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						CTCTGGGTAGCGGGTGCCACG	0.577			Mis|F|N		Pancreatic neuroendocrine tumors								T	33288764	C	T	33288764	3	4	88	1	0	0	0	0	1	0	0	0	4243	768	27	1	1458	1	DAXX	6	33288764	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1122024	33288764	137826303	327	57749											
ITPR3	3710	broad.mit.edu	37	chr6	33652577	33652577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccagactggtcggcaatcGcagccacccagtgccggctg	12	16	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:33652577G>A	uc011drk.1	+	39	5383	c.5164G>A	c.(5164-5166)GCA>ACA	p.A1722T	ITPR3_uc003oey.2_5'Flank	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1722	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						GTCGGCAATCGCAGCCACCCA	0.642													A	33652577	G	A	33652577	3	1	88	1	0	0	0	0	1	0	0	0	7922	1087	38	1	5318	1	ITPR3	6	33652577	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	363813	33652577	137462490	328	57750											
ITPR3	3710	broad.mit.edu	37	chr6	33656440	33656440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcctcttcaggcatgccGctgatctactggttctcccg	8	17	4	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:33656440G>A	uc011drk.1	+	49	6795	c.6576G>A	c.(6574-6576)CCG>CCA	p.P2192P	ITPR3_uc003oey.2_Silent_p.P279P	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2192	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CAGGCATGCCGCTGATCTACT	0.602													A	33656440	G	A	33656440	2	1	88	1	0	0	0	0	0	0	0	1	7922	1074	38	1		1	ITPR3	6	33656440	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	3863	33656440	137458627	329	57751											
ITPR3	3710	broad.mit.edu	37	chr6	33660616	33660616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgacaccttcgctgacctgCgtagtgagaagcagaagaag	12	10	0	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:33660616C>T	uc011drk.1	+	55	7789	c.7570C>T	c.(7570-7572)CGT>TGT	p.R2524C	ITPR3_uc003oey.2_Missense_Mutation_p.R611C	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2524	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CGCTGACCTGCGTAGTGAGAA	0.537													T	33660616	C	T	33660616	3	4	88	1	0	0	0	0	1	0	0	0	7922	768	27	1	7788	1	ITPR3	6	33660616	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	4176	33660616	137454451	330	57752											
PPARD	5467	broad.mit.edu	37	chr6	35389648	35389648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtacgagaagtgtgagCgcagctgcaagattcagaag	15	6	1	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:35389648C>T	uc003okm.2	+	5	646	c.337C>T	c.(337-339)CGC>TGC	p.R113C	PPARD_uc003okl.2_Missense_Mutation_p.R113C|PPARD_uc003okn.2_Missense_Mutation_p.R113C|PPARD_uc011dtb.1_Missense_Mutation_p.R74C|PPARD_uc011dtc.1_Intron|PPARD_uc010jvv.1_RNA	NM_006238	NP_006229	Q03181	PPARD_HUMAN	peroxisome proliferative activated receptor,	113	Nuclear receptor.|NR C4-type.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GAAGTGTGAGCGCAGCTGCAA	0.567													T	35389648	C	T	35389648	3	4	88	1	0	0	0	0	1	0	0	0	12298	768	27	1	364	1	PPARD	6	35389648	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1729032	35389648	135725419	331	57753											
FANCE	2178	broad.mit.edu	37	chr6	35425715	35425716	+	Frame_Shift_Ins	INS	-	-	C													ttagagggattggaggatgcINSccccccagttgagctacagc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:35425714_35425715G>GC	uc003oko.1	+	3	1107_1108	c.922_923G>GC	c.(922-924)gccfs	p.A308fs	FANCE_uc010jvw.1_Frame_Shift_Ins_p.A308fs	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Homo sapiens Fanconi anemia, complementation group E (FANCE), mRNA.	308	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.54			"N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				C	35425716	-	C	35425715	7	5	88	1	0	1	1	0	0	0	0	0	5666	739	26	0	937	0	FANCE	6	35425715	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	36067	35425715	135689352	332	57754											
TEAD3	7005	broad.mit.edu	37	chr6	35443481	35443481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatggtgctgttgaggtcGgcctgggcatgggggtgggg	23	5	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:35443481G>A	uc003oku.3	-	11	1139	c.903C>T	c.(901-903)GCC>GCT	p.A301A	TEAD3_uc003okt.2_Silent_p.A190A|TEAD3_uc010jvx.2_Silent_p.A241A	NM_003214	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	301	Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TGTTGAGGTCGGCCTGGGCAT	0.602													A	35443481	G	A	35443481	2	1	88	1	0	0	0	0	0	0	0	1	15737	1103	39	1		1	TEAD3	6	35443481	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	17766	35443481	135671586	333	57755											
CPNE5	57699	broad.mit.edu	37	chr6	36714354	36714354	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtggactgtgaggggttcCctgtaacacaggacatggga	15	7	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:36714354C>A	uc003omr.1	-	16	1086	c.1019G>T	c.(1018-1020)GGG>GTG	p.G340V	CPNE5_uc003omp.1_Missense_Mutation_p.G48V|CPNE5_uc010jwn.1_5'UTR|CPNE5_uc003omq.1_5'UTR	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	copine V	340	VWFA.									skin(1)	1						TGAGGGGTTCCCTGTAACACA	0.577													A	36714354	C	A	36714354	3	1	88	1	0	0	0	0	1	0	0	0	3815	637	22	5	786	5	CPNE5	6	36714354	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1270873	36714354	134400713	334	57756											
C6orf89	221477	broad.mit.edu	37	chr6	36867371	36867372	+	Frame_Shift_Ins	INS	-	-	C													aaagaatgaacctcagagacINScccccccgcagtatcctctc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:36867370_36867371A>AC	uc003omw.3	+	1	334_335	c.171_172A>AC	c.(169-174)agacccfs	p.R57fs	C6orf89_uc003omv.3_5'UTR|C6orf89_uc003omx.3_Frame_Shift_Ins_p.R50fs|C6orf89_uc011dtr.2_5'UTR	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	50						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						AACCTCAGAGACCCCCCCCGCA	0.431													C	36867372	-	C	36867371	7	5	88	1	0	1	1	0	0	0	0	0	2373	507	18	0	178	0	C6orf89	6	36867371	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	153017	36867371	134247696	335	57757											
DAAM2	23500	broad.mit.edu	37	chr6	39835355	39835355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctccggagcatggaccaCgccacctgtgagagccgcat	11	15	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:39835355C>T	uc003oow.2	+	6	654	c.498C>T	c.(496-498)CAC>CAT	p.H166H	DAAM2_uc010jxc.2_Silent_p.H166H|DAAM2_uc003oox.2_Silent_p.H166H	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	166	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCATGGACCACGCCACCTGTG	0.527													T	39835355	C	T	39835355	2	4	88	1	0	0	0	0	0	0	0	1	4216	535	19	1		1	DAAM2	6	39835355	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2967984	39835355	131279712	336	57758											
KIAA0240	23506	broad.mit.edu	37	chr6	42796577	42796577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagcctataggggtgaCgcatgtgcctgttggagcat	15	9	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:42796577C>T	uc003osn.1	+	6	657	c.506C>T	c.(505-507)ACG>ATG	p.T169M	KIAA0240_uc003osm.1_Missense_Mutation_p.T169M|KIAA0240_uc011duw.1_Missense_Mutation_p.T169M|KIAA0240_uc003oso.1_Missense_Mutation_p.T169M|KIAA0240_uc003osp.1_Missense_Mutation_p.T169M	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	169										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			ATAGGGGTGACGCATGTGCCT	0.473													T	42796577	C	T	42796577	3	4	88	1	0	0	0	0	1	0	0	0	8164	536	19	1	520	1	KIAA0240	6	42796577	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2961222	42796577	128318490	337	57759											
PEX6	5190	broad.mit.edu	37	chr6	42942631	42942631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgggtatctgaaagtgcCggtaaagaacaccgtcataa	10	9	2	2	rs111282915	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:42942631C>T	uc003otf.2	-	2	1121	c.1028G>A	c.(1027-1029)CGG>CAG	p.R343Q	PEX6_uc010jya.2_RNA	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	343					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CTGAAAGTGCCGGTAAAGAAC	0.463													T	42942631	C	T	42942631	3	4	88	1	0	0	0	0	1	0	0	0	11750	652	23	1	1978	1	PEX6	6	42942631	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	146054	42942631	128172436	338	57760											
CUL7	9820	broad.mit.edu	37	chr6	43020028	43020028	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggactactcaacatgtgcaTgagcaagtccaggacccttg	10	11	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:43020028T>C	uc003otq.2	-	2	802	c.499A>G	c.(499-501)ATG>GTG	p.M167V	CUL7_uc011dvb.1_Missense_Mutation_p.M219V|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	167					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AACATGTGCATGAGCAAGTCC	0.562													C	43020028	T	C	43020028	3	2	88	1	0	0	0	0	1	0	0	0	4060	1464	51	3	4793	3	CUL7	6	43020028	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	77397	43020028	128095039	339	57761											
SRF	6722	broad.mit.edu	37	chr6	43141756	43141756	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagactctccaccccgttcaGaccccacaacagaccagaga	6	18	2	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:43141756G>A	uc003oui.2	+	2	1160	c.685G>A	c.(685-687)GAC>AAC	p.D229N	SRF_uc011dvf.1_Missense_Mutation_p.D25N	NM_003131	NP_003122	P11831	SRF_HUMAN	serum response factor (c-fos serum response	229					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			ovary(1)|breast(1)|central_nervous_system(1)	3			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ACCCCGTTCAGACCCCACAAC	0.562													A	43141756	G	A	43141756	3	1	88	1	0	0	0	0	1	0	0	0	15142	942	33	4	691	4	SRF	6	43141756	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	121728	43141756	127973311	340	57762											
RSPH9	221421	broad.mit.edu	37	chr6	43612854	43612854	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatggacgccgacagcctcCtgctgtctctggagctggcg	14	13	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:43612854C>A	uc003ovw.1	+	1	45	c.19C>A	c.(19-21)CTG>ATG	p.L7M	RSPH9_uc003ovx.1_Missense_Mutation_p.L7M	NM_152732	NP_689945	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog	7					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				upper_aerodigestive_tract(1)|skin(1)	2						CGACAGCCTCCTGCTGTCTCT	0.672									Kartagener_syndrome				A	43612854	C	A	43612854	3	1	88	1	0	0	0	0	1	0	0	0	13708	680	24	5	21	5	RSPH9	6	43612854	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	471098	43612854	127502213	341	57763											
AARS2	57505	broad.mit.edu	37	chr6	44275066	44275066	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcagccaccacgcggtaCgctgtgtctgtgcgcccctc	12	16	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:44275066C>T	uc010jza.1	-	6	963	c.960G>A	c.(958-960)GCG>GCA	p.A320A	SPATS1_uc003oxg.2_RNA|TMEM151B_uc003oxf.2_3'UTR	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	320					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CCACGCGGTACGCTGTGTCTG	0.632													T	44275066	C	T	44275066	2	4	88	1	0	0	0	0	0	0	0	1	20	523	19	1		1	AARS2	6	44275066	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	662212	44275066	126840001	342	57764											
CLIC5	53405	broad.mit.edu	37	chr6	45922893	45922893	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagatccacagtggtgAcattgaacacgactcctttc	7	11	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:45922893A>G	uc003oxv.3	-	2	735	c.629T>C	c.(628-630)GTC>GCC	p.V210A	CLIC5_uc003oxu.3_Missense_Mutation_p.V51A|CLIC5_uc003oxx.2_Missense_Mutation_p.V51A	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5 isoform a	210	Helical; Note=After insertion into the membrane; (Potential).				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			ovary(1)|skin(1)	2						CACAGTGGTGACATTGAACAC	0.473													G	45922893	A	G	45922893	3	3	88	1	0	0	0	0	1	0	0	0	3529	275	10	3	623	3	CLIC5	6	45922893	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	1647827	45922893	125192174	343	57765											
GCLC	2729	broad.mit.edu	37	chr6	53387262	53387262	+	Frame_Shift_Del	DEL	C	C	-													cagagtttcaagaactttctCcccagacaggaccaaccgga							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:53387261_53387261TC>T	uc003pbw.2	-	1	699	c.215_215GA>A	c.(214-216)gagfs	p.E72fs	GCLC_uc021zau.1_Frame_Shift_Del_p.E72fs|GCLC_uc003pbx.3_Frame_Shift_Del_p.E72fs	NM_001498	NP_001489	P48506	GSH1_HUMAN	Homo sapiens glutamate-cysteine ligase, catalytic subunit (GCLC), transcript variant 1, mRNA.	72					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AAGAACTTTCTCCCCAGACAG	0.368													-	53387262	C	-	53387262	7	5	88	1	0	1	0	1	0	0	0	0	6295	864	30	0	1759	0	GCLC	6	53387262	Frame_Shift_Del	DEL	C	TCGA-BR-8382-01A-11D-2394-08	7464369	53387262	117727805	344	57766											
OGFRL1	79627	broad.mit.edu	37	chr6	72011492	72011492	+	Frame_Shift_Del	DEL	A	A	-													atagcaaaacagctgaagacAaaaaagtggcaccaaaagag							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:72011491_72011491CA>C	uc003pfx.1	+	6	1258	c.1095_1095CA>C	c.(1093-1095)gacfs	p.D365fs		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	Homo sapiens opioid growth factor receptor-like 1 (OGFRL1), mRNA.	365						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						CAGCTGAAGACAAAAAAGTGG	0.458													-	72011492	A	-	72011492	7	5	88	1	0	1	0	1	0	0	0	0	10844	131	5	0	1122	0	OGFRL1	6	72011492	Frame_Shift_Del	DEL	A	TCGA-BR-8382-01A-11D-2394-08	18624230	72011492	99103575	345	57767											
MYO6	4646	broad.mit.edu	37	chr6	76599952	76599952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgaagaagacgaaaaacGtcgaagaaaggaagaggagg	15	4	0	5			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:76599952G>A	uc003pih.1	+	26	3116	c.2837G>A	c.(2836-2838)CGT>CAT	p.R946H	MYO6_uc003pig.1_Missense_Mutation_p.R946H|MYO6_uc003pii.1_Missense_Mutation_p.R946H	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	946	Glu-rich.|Potential.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GACGAAAAACGTCGAAGAAAG	0.368													A	76599952	G	A	76599952	3	1	88	1	0	0	0	0	1	0	0	0	10081	1145	40	1	2935	1	MYO6	6	76599952	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	4588460	76599952	94515115	346	57768											
HTR1B	3351	broad.mit.edu	37	chr6	78172950	78172950	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggccaaggtgatgagCgccaatagcataaccagcag	14	9	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:78172950C>T	uc003pil.1	-	1	171	c.171G>A	c.(169-171)GCG>GCA	p.A57A		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	57	Helical; Name=1; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	AGGTGATGAGCGCCAATAGCA	0.547													T	78172950	C	T	78172950	2	4	88	1	0	0	0	0	0	0	0	1	7437	755	27	1		1	HTR1B	6	78172950	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1572998	78172950	92942117	347	57769											
IBTK	25998	broad.mit.edu	37	chr6	82933168	82933168	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacacatacttagaagccatCttcttgcactgatagtctgc	6	11	3	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:82933168C>T	uc003pjl.1	-	8	1640	c.1113G>A	c.(1111-1113)AAG>AAA	p.K371K	IBTK_uc011dyv.1_Silent_p.K371K|IBTK_uc011dyw.1_Silent_p.K371K|IBTK_uc010kbi.1_Silent_p.K65K|IBTK_uc003pjm.2_Silent_p.K371K	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	371					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TAGAAGCCATCTTCTTGCACT	0.368													T	82933168	C	T	82933168	2	4	88	1	0	0	0	0	0	0	0	1	7476	912	32	4		4	IBTK	6	82933168	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	4760218	82933168	88181899	348	57770											
KIAA1009	22832	broad.mit.edu	37	chr6	84896233	84896234	+	Frame_Shift_Ins	INS	-	-	A													cattctcatcatttttgtcaINSaaaaaaaggttcacatgttg							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:84896232_84896233C>CA	uc010kbp.3	-	11	1315_1316	c.1218_1219G>TG	c.(1216-1221)tttgacfs	p.F406fs	KIAA1009_uc003pkj.4_Frame_Shift_Ins_p.F330fs|KIAA1009_uc003pkk.2_Frame_Shift_Ins_p.F406fs|KIAA1009_uc003pki.4_5'UTR	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	406					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCATTTTTGTCAAAAAAAAGGT	0.356													A	84896234	-	A	84896233	7	5	88	1	0	1	1	0	0	0	0	0	8203	127	5	0	3057	0	KIAA1009	6	84896233	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	1963065	84896233	86218834	349	57771											
MDN1	23195	broad.mit.edu	37	chr6	90428228	90428228	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcagaagaaaatgactcCaggctcgcagcactacttct	8	11	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:90428228C>T	uc003pnn.1	-	43	6556	c.6440G>A	c.(6439-6441)TGG>TAG	p.W2147*		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2147					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAAATGACTCCAGGCTCGCAG	0.463													T	90428228	C	T	90428228	4	4	88	1	0	0	0	0	0	1	0	0	9415	595	21	4	10590	4	MDN1	6	90428228	Nonsense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	5531995	90428228	80686839	350	57772											
MDN1	23195	broad.mit.edu	37	chr6	90428637	90428637	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaccatccagctcatcTgcacacacttcatgattgac	7	13	3	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:90428637T>G	uc003pnn.1	-	42	6286	c.6170A>C	c.(6169-6171)CAG>CCG	p.Q2057P		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2057					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCAGCTCATCTGCACACACTT	0.577													G	90428637	T	G	90428637	3	3	88	1	0	0	0	0	1	0	0	0	9415	1580	55	5	10864	5	MDN1	6	90428637	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	409	90428637	80686430	351	57773											
MDN1	23195	broad.mit.edu	37	chr6	90453398	90453398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataatttctgatttgccaagGctgcaaatacctgacagata	7	8	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:90453398G>A	uc003pnn.1	-	30	4330	c.4214C>T	c.(4213-4215)GCC>GTC	p.A1405V		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1405					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATTTGCCAAGGCTGCAAATAC	0.463													A	90453398	G	A	90453398	3	1	88	1	0	0	0	0	1	0	0	0	9415	1203	42	2	12868	2	MDN1	6	90453398	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	24761	90453398	80661669	352	57774											
PRDM13	59336	broad.mit.edu	37	chr6	100062567	100062567	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaagagcgacgacagtgacGtggacgtctgcttcacagac	12	12	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:100062567G>T	uc003pqg.1	+	4	2317	c.2056G>T	c.(2056-2058)GTG>TTG	p.V686L		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	686					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CGACAGTGACGTGGACGTCTG	0.701													T	100062567	G	T	100062567	3	4	88	1	0	0	0	0	1	0	0	0	12454	1145	40	5	2070	5	PRDM13	6	100062567	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	9609169	100062567	71052500	353	57775											
LAMA4	3910	broad.mit.edu	37	chr6	112493824	112493824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgtacctcatggtcccGctgcctggctgctgtggccc	12	17	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:112493824G>A	uc003pvu.2	-	12	1849	c.1540C>T	c.(1540-1542)CGG>TGG	p.R514W	LAMA4_uc003pvv.2_Missense_Mutation_p.R507W|LAMA4_uc003pvt.2_Missense_Mutation_p.R507W	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	514	Potential.|Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCATGGTCCCGCTGCCTGGCT	0.483													A	112493824	G	A	112493824	3	1	88	1	0	0	0	0	1	0	0	0	8608	1086	38	1	4043	1	LAMA4	6	112493824	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	12431257	112493824	58621243	354	57776											
FAM162B	221303	broad.mit.edu	37	chr6	117086316	117086316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgccacacttacgggatcCgaggcgggatctcctccatc	11	15	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:117086316C>T	uc003pxi.2	-	2	422	c.275G>A	c.(274-276)CGG>CAG	p.R92Q		NM_001085480	NP_001078949	Q5T6X4	F162B_HUMAN	hypothetical protein LOC221303	92						integral to membrane					0						TTACGGGATCCGAGGCGGGAT	0.647													T	117086316	C	T	117086316	3	4	88	1	0	0	0	0	1	0	0	0	5475	652	23	1	225	1	FAM162B	6	117086316	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	4592492	117086316	54028751	355	57777											
GOPC	57120	broad.mit.edu	37	chr6	117894635	117894635	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaaagcaaacatacatggcCtggtggtgcttgcattggtc	12	9	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:117894635C>A	uc003pxu.2	-	5	1041	c.811G>T	c.(811-813)GGC>TGC	p.G271C	GOPC_uc003pxq.1_Missense_Mutation_p.G44C|GOPC_uc003pxv.2_Missense_Mutation_p.G263C	NM_020399	NP_065132	Q9HD26	GOPC_HUMAN	golgi associated PDZ and coiled-coil motif	271					apical protein localization|cytoplasmic sequestering of CFTR protein|ER to Golgi vesicle-mediated transport|Golgi to plasma membrane transport|protein homooligomerization|protein transport	cell junction|dendrite|Golgi membrane|postsynaptic density|postsynaptic membrane|trans-Golgi network transport vesicle	cystic fibrosis transmembrane conductance regulator binding			ovary(1)	1		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		CATACATGGCCTGGTGGTGCT	0.428			O	ROS1	glioblastoma								A	117894635	C	A	117894635	3	1	88	1	0	0	0	0	1	0	0	0	6573	681	24	5	597	5	GOPC	6	117894635	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	808319	117894635	53220432	356	57778											
C6orf204	387119	broad.mit.edu	37	chr6	118886986	118886986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctaagagtagaggaagaGgctctaaagtcctccttgct	10	10	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:118886986G>A	uc003pxz.1	-	3	1314	c.726C>T	c.(724-726)GCC>GCT	p.A242A	C6orf204_uc003pya.1_Silent_p.A245A|C6orf204_uc003pyb.2_Silent_p.A242A|C6orf204_uc011ebj.1_Silent_p.A140A|C6orf204_uc003pyc.2_Silent_p.A245A|C6orf204_uc011ebl.1_Silent_p.A140A	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	242						centrosome				breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)		TAGAGGAAGAGGCTCTAAAGT	0.423													A	118886986	G	A	118886986	2	1	88	1	0	0	0	0	0	0	0	1	2353	987	35	4		4	C6orf204	6	118886986	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	992351	118886986	52228081	357	57779											
SERINC1	57515	broad.mit.edu	37	chr6	122768329	122768329	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccttgagcatgccaccacTggactgactgcccttccttt	7	15	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:122768329T>G	uc003pyy.1	-	8	1002	c.932A>C	c.(931-933)CAG>CCG	p.Q311P	SERINC1_uc003pyx.1_5'Flank	NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN	serine incorporator 1	311	Helical; (Potential).				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.126)		ATGCCACCACTGGACTGACTG	0.358													G	122768329	T	G	122768329	3	3	88	1	0	0	0	0	1	0	0	0	14079	1580	55	5	441	5	SERINC1	6	122768329	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	3881343	122768329	48346738	358	57780											
ENPP3	5169	broad.mit.edu	37	chr6	132054763	132054766	+	Frame_Shift_Del	DEL	CTGT	CTGT	-													ctgcctcccactgtcccagaCtgtctgcgggctgatgtcag							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:132054762_132054765ACTGT>A	uc003qcu.4	+	21	2335_2338	c.1988_1991ACTGT>A	c.(1987-1992)gactgtfs	p.D663fs	ENPP3_uc003qcv.3_Frame_Shift_Del_p.D663fs|ENPP3_uc010kfq.3_Intron	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	663	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ACTGTCCCAGACTGTCTGCGGGCT	0.495													-	132054766	CTGT	-	132054763	7	5	88	1	0	1	0	1	0	0	0	0	5131	564	20	0	2071	0	ENPP3	6	132054763	Frame_Shift_Del	DEL	CTGT	TCGA-BR-8382-01A-11D-2394-08	9286434	132054763	39060304	359	57781											
STX7	8417	broad.mit.edu	37	chr6	132792740	132792740	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtattttcctttgacgCtagaggaaagagaagaaaaa	9	5	1	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:132792740C>T	uc003qdg.2	-	5	500	c.250_splice	c.e5-1	p.R84_splice	STX7_uc011ecg.1_Intron|STX7_uc011ech.1_Intron	NM_003569	NP_003560	O15400	STX7_HUMAN	syntaxin 7						intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity				0	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		TCCTTTGACGCTAGAGGAAAG	0.433													T	132792740	C	T	132792740	5	4	88	1	0	0	0	0	0	0	1	0	15349	811	28	2	560	2	STX7	6	132792740	Splice_Site	SNP	C	TCGA-BR-8382-01A-11D-2394-08	737977	132792740	38322327	360	57782											
IL20RA	53832	broad.mit.edu	37	chr6	137329814	137329814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgaaggactccacgtgtaCgcagtaaagagtgttcggct	13	9	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:137329814C>T	uc003qhj.2	-	5	1079	c.646G>A	c.(646-648)GTA>ATA	p.V216I	IL20RA_uc011edl.1_Missense_Mutation_p.V167I|IL20RA_uc003qhk.2_Missense_Mutation_p.V105I|IL20RA_uc003qhi.2_5'UTR	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha precursor	216	Extracellular (Potential).|Fibronectin type-III 2.					integral to membrane	receptor activity			ovary(2)|skin(2)	4	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TCCACGTGTACGCAGTAAAGA	0.537													T	137329814	C	T	137329814	3	4	88	1	0	0	0	0	1	0	0	0	7668	536	19	1	1027	1	IL20RA	6	137329814	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	4537074	137329814	33785253	361	57783											
HEBP2	23593	broad.mit.edu	37	chr6	138727266	138727266	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtcttcattgaagatagaGccgaaatgactgtgtttgta	10	5	2	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:138727266G>T	uc003qhw.1	+	3	694	c.397G>T	c.(397-399)GCC>TCC	p.A133S		NM_014320	NP_055135	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	133						mitochondrion					0	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		TGAAGATAGAGCCGAAATGAC	0.408													T	138727266	G	T	138727266	3	4	88	1	0	0	0	0	1	0	0	0	7037	971	34	5	407	5	HEBP2	6	138727266	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1397452	138727266	32387801	362	57784											
NMBR	4829	broad.mit.edu	37	chr6	142409496	142409496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaagaagtagcgcgaggcGtccaccgggacgcaggtgag	17	10	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:142409496G>A	uc003qiu.2	-	1	441	c.300C>T	c.(298-300)GAC>GAT	p.D100D		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	100	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AGCGCGAGGCGTCCACCGGGA	0.592													A	142409496	G	A	142409496	2	1	88	1	0	0	0	0	0	0	0	1	10487	1136	40	1		1	NMBR	6	142409496	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	3682230	142409496	28705571	363	57785											
HIVEP2	3097	broad.mit.edu	37	chr6	143094969	143094969	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctctgctggcaatgtccaGtgggatgggtggaccaggac	16	10	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:143094969G>A	uc003qjd.2	-	5	1650	c.907C>T	c.(907-909)CTG>TTG	p.L303L		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCAATGTCCAGTGGGATGGGT	0.468													A	143094969	G	A	143094969	2	1	88	1	0	0	0	0	0	0	0	1	7187	1020	36	4		4	HIVEP2	6	143094969	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	685473	143094969	28020098	364	57786											
STX11	8676	broad.mit.edu	37	chr6	144507947	144507947	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccagctgctggtggccgaCgtgaagcggctgggaaagca	16	10	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:144507947C>T	uc003qks.3	+	2	375	c.183C>T	c.(181-183)GAC>GAT	p.D61D		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	61	Potential.			D -> N (in Ref. 1; AAD02107).	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		TGGTGGCCGACGTGAAGCGGC	0.617									Familial_Hemophagocytic_Lymphohistiocytosis				T	144507947	C	T	144507947	2	4	88	1	0	0	0	0	0	0	0	1	15336	535	19	1		1	STX11	6	144507947	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1412978	144507947	26607120	365	57787											
ULBP1	80329	broad.mit.edu	37	chr6	150290471	150290471	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgaagaatttttgatgtaCtgggaacaaatgctggatcc	10	6	0	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:150290471C>T	uc003qnp.2	+	3	643	c.600C>T	c.(598-600)TAC>TAT	p.Y200Y		NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1 precursor	200	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity			pancreas(1)	1		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		TTTTGATGTACTGGGAACAAA	0.393													T	150290471	C	T	150290471	2	4	88	1	0	0	0	0	0	0	0	1	16969	576	20	4		4	ULBP1	6	150290471	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	5782524	150290471	20824596	366	57788											
SYNE1	23345	broad.mit.edu	37	chr6	152472791	152472791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccagaatgctgtcccgcGcagtctcaaactcctcacgc	8	16	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:152472791G>A	uc010kiw.2	-	135	24949	c.24347C>T	c.(24346-24348)GCG>GTG	p.A8116V	SYNE1_uc010kiv.2_Missense_Mutation_p.A2640V|SYNE1_uc003qos.3_Missense_Mutation_p.A2640V|SYNE1_uc003qot.3_Missense_Mutation_p.A8045V|SYNE1_uc003qou.3_Missense_Mutation_p.A8116V|SYNE1_uc003qop.3_Missense_Mutation_p.A278V|SYNE1_uc011eez.1_Missense_Mutation_p.A318V|SYNE1_uc003qoq.3_Missense_Mutation_p.A318V|SYNE1_uc003qor.3_Missense_Mutation_p.A1016V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8116	Spectrin 30.|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)		GCTGTCCCGCGCAGTCTCAAA	0.403										HNSCC(10;0.0054)			A	152472791	G	A	152472791	3	1	88	1	0	0	0	0	1	0	0	0	15442	1087	38	1	2167	1	SYNE1	6	152472791	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2182320	152472791	18642276	367	57789											
SYNE1	23345	broad.mit.edu	37	chr6	152560775	152560775	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttccttttggactgcaaAgctgattatctttctgaaga	9	7	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:152560775A>G	uc010kiw.2	-	108	20562	c.19960T>C	c.(19960-19962)TTT>CTT	p.F6654L	SYNE1_uc010kiv.2_Missense_Mutation_p.F1178L|SYNE1_uc003qos.3_Missense_Mutation_p.F1178L|SYNE1_uc003qot.3_Missense_Mutation_p.F6583L|SYNE1_uc003qou.3_Missense_Mutation_p.F6654L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6654	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)		TGGACTGCAAAGCTGATTATC	0.453										HNSCC(10;0.0054)			G	152560775	A	G	152560775	3	3	88	1	0	0	0	0	1	0	0	0	15442	72	3	3	6662	3	SYNE1	6	152560775	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	87984	152560775	18554292	368	57790											
WTAP	9589	broad.mit.edu	37	chr6	160176302	160176303	+	Missense_Mutation	DNP	CG	CG	TA													caagtaatggtagctcctccCgccagaggacgtctgggtct							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:160176302_160176303CG>TA	uc003qsl.2	+	8	1072_1073	c.850_851CG>TA	c.(850-852)CGC>TAC	p.R284Y	WTAP_uc003qso.2_Missense_Mutation_p.R165Y	NM_004906	NP_004897	Q15007	FL2D_HUMAN	Wilms' tumour 1-associating protein isoform 1	284					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus					0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TAGCTCCTCCCGCCAGAGGACG	0.51													TA	160176303	CG	TA	160176302	3	4	88	1	0	0	0	0	1	0	0	0	17406	652	23	1	880	1	WTAP	6	160176302	Missense_Mutation	DNP	CG	TCGA-BR-8382-01A-11D-2394-08	7615527	160176302	10938765	369	57791											
PLG	5340	broad.mit.edu	37	chr6	161173964	161173964	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtcctctggtttgcttcgaGaaggacaaatacattttaca	9	8	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:161173964G>T	uc003qtm.3	+	19	2367	c.2304G>T	c.(2302-2304)GAG>GAT	p.E768D		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	768	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTTGCTTCGAGAAGGACAAAT	0.473													T	161173964	G	T	161173964	3	4	88	1	0	0	0	0	1	0	0	0	12086	933	33	5	2382	5	PLG	6	161173964	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	997662	161173964	9941103	370	57792											
SMOC2	64094	broad.mit.edu	37	chr6	169053728	169053728	+	Frame_Shift_Del	DEL	A	A	-													actccagtggagacatcggcAaaaaggaaatcaaacccttc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:169053727_169053727CA>C	uc003qwr.2	+	10	1357	c.1137_1137CA>C	c.(1135-1137)ggcfs	p.G379fs	SMOC2_uc003qws.2_Frame_Shift_Del_p.G368fs|SMOC2_uc011egu.2_Frame_Shift_Del_p.G45fs	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	Homo sapiens SPARC related modular calcium binding 2 (SMOC2), transcript variant 1, mRNA.	368	EF-hand 1.				signal transduction	basement membrane	calcium ion binding	p.G379D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		GAGACATCGGCAAAAAGGAAA	0.453													-	169053728	A	-	169053728	7	5	88	1	0	1	0	1	0	0	0	0	14802	131	5	0	1180	0	SMOC2	6	169053728	Frame_Shift_Del	DEL	A	TCGA-BR-8382-01A-11D-2394-08	7879764	169053728	2061339	371	57793											
DLL1	28514	broad.mit.edu	37	chr6	170594100	170594100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggcagctgtaccctccatCggggctgtctgagcaccgac	13	15	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:170594100C>T	uc003qxm.2	-	8	1626	c.1156G>A	c.(1156-1158)GAT>AAT	p.D386N		NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	386	Extracellular (Potential).|EGF-like 5.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TACCCTCCATCGGGGCTGTCT	0.572													T	170594100	C	T	170594100	3	4	88	1	0	0	0	0	1	0	0	0	4566	884	31	1	1031	1	DLL1	6	170594100	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1540372	170594100	520967	372	57794											
DLL1	28514	broad.mit.edu	37	chr6	170597853	170597853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagaatctgtgtggagagCttcaataatcagagagaagg	14	4	3	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:170597853C>T	uc003qxm.2	-	3	846	c.376G>A	c.(376-378)GCT>ACT	p.A126T	DLL1_uc011ehc.1_Missense_Mutation_p.A126T|DLL1_uc003qxn.3_3'UTR	NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	126	Extracellular (Potential).				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GTGTGGAGAGCTTCAATAATC	0.463													T	170597853	C	T	170597853	3	4	88	1	0	0	0	0	1	0	0	0	4566	797	28	2	1831	2	DLL1	6	170597853	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	3753	170597853	517214	373	57795											
TBP	6908	broad.mit.edu	37	chr6	170878836	170878836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttcctataaggttagaaGgccttgtgctcacccaccaa	8	11	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:170878836G>A	uc003qxt.2	+	6	1046	c.814G>A	c.(814-816)GGC>AGC	p.G272S	TBP_uc003qxu.2_Missense_Mutation_p.G272S|TBP_uc011ehf.1_Missense_Mutation_p.G252S	NM_003194	NP_003185	P20226	TBP_HUMAN	TATA box binding protein	272	2.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		AAGGTTAGAAGGCCTTGTGCT	0.368													A	170878836	G	A	170878836	3	1	88	1	0	0	0	0	1	0	0	0	15641	1000	35	4	832	4	TBP	6	170878836	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	280983	170878836	236231	374	57796											
SDK1	221935	broad.mit.edu	37	chr7	4051851	4051851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagcacaacggggtgttgCgtggatacatcctcaggcaa	13	10	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:4051851C>T	uc003smx.2	+	16	2543	c.2404C>T	c.(2404-2406)CGT>TGT	p.R802C	SDK1_uc010kso.2_Missense_Mutation_p.R78C	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	802	Fibronectin type-III 2.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGGGGTGTTGCGTGGATACAT	0.483													T	4051851	C	T	4051851	3	4	88	1	0	0	0	0	1	0	0	0	13968	768	27	1	2466	1	SDK1	7	4051851	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08		4051851	155086812	375	57797											
SDK1	221935	broad.mit.edu	37	chr7	4285315	4285315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcatcctaggtccccaCcccggcctagccccggcggc	10	21	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:4285315C>T	uc003smx.2	+	44	6398	c.6259C>T	c.(6259-6261)CCC>TCC	p.P2087S	SDK1_uc010kso.2_Missense_Mutation_p.P1343S|SDK1_uc003smy.2_Missense_Mutation_p.P574S|SDK1_uc003smz.2_Missense_Mutation_p.P147S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	2087	Extracellular (Potential).|Cytoplasmic (Potential).				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TAGGTCCCCACCCCGGCCTAG	0.602													T	4285315	C	T	4285315	3	4	88	1	0	0	0	0	1	0	0	0	13968	507	18	4	6433	4	SDK1	7	4285315	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	233464	4285315	154853348	376	57798											
TNRC18	84629	broad.mit.edu	37	chr7	5427330	5427330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttactcagcgacagagagcGctcctggtctaccagcccag	11	14	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:5427330G>A	uc003soi.3	-	5	2474	c.2125C>T	c.(2125-2127)CGC>TGC	p.R709C	TNRC18_uc010ksx.1_Missense_Mutation_p.R635C	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	709							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GACAGAGAGCGCTCCTGGTCT	0.587													A	5427330	G	A	5427330	3	1	88	1	0	0	0	0	1	0	0	0	16336	1087	38	1	6885	1	TNRC18	7	5427330	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1142015	5427330	153711333	377	57799											
THSD7A	221981	broad.mit.edu	37	chr7	11675888	11675888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctttttcttaataagctcGcgggcttctggatcctttac	7	11	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:11675888G>A	uc003ssf.3	-	2	1143	c.891C>T	c.(889-891)CGC>CGT	p.R297R		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	297	Extracellular (Potential).|Potential.					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TAATAAGCTCGCGGGCTTCTG	0.463										HNSCC(18;0.044)			A	11675888	G	A	11675888	2	1	88	1	0	0	0	0	0	0	0	1	15876	1074	38	1		1	THSD7A	7	11675888	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	6248558	11675888	147462775	378	57800											
ITGB8	3696	broad.mit.edu	37	chr7	20449534	20449534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtgtttgcacaagagcaGtcacctaccgacgtgagaag	11	9	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:20449534G>A	uc003suu.2	+	14	2929	c.2224G>A	c.(2224-2226)GTC>ATC	p.V742I	ITGB8_uc011jyh.1_Missense_Mutation_p.V607I	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	742	Cytoplasmic (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						CACAAGAGCAGTCACCTACCG	0.318													A	20449534	G	A	20449534	3	1	88	1	0	0	0	0	1	0	0	0	7901	1029	36	4	2278	4	ITGB8	7	20449534	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	8773646	20449534	138689129	379	57801											
ELMO1	9844	broad.mit.edu	37	chr7	36910077	36910077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctttgatatctgccaccGgcactgcaattcataaaaga	8	11	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:36910077G>A	uc003tfk.1	-	20	2133	c.1826C>T	c.(1825-1827)CCG>CTG	p.P609L	ELMO1_uc003tfi.1_Missense_Mutation_p.P129L|ELMO1_uc003tfj.1_Missense_Mutation_p.P129L|ELMO1_uc011kbb.1_RNA|ELMO1_uc011kbc.1_Missense_Mutation_p.P513L|ELMO1_uc010kxg.1_Missense_Mutation_p.P609L	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	609	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						ATCTGCCACCGGCACTGCAAT	0.418													A	36910077	G	A	36910077	3	1	88	1	0	0	0	0	1	0	0	0	5065	1116	39	1	369	1	ELMO1	7	36910077	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	16460543	36910077	122228586	380	57802											
ELMO1	9844	broad.mit.edu	37	chr7	37136283	37136283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagctctatactactgcggCcaaagggacattcatgcttg	9	11	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:37136283C>T	uc003tfk.1	-	15	1548	c.1241G>A	c.(1240-1242)GGC>GAC	p.G414D	ELMO1_uc011kbc.1_Missense_Mutation_p.G318D|ELMO1_uc010kxg.1_Missense_Mutation_p.G414D	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	414	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						ACTACTGCGGCCAAAGGGACA	0.433													T	37136283	C	T	37136283	3	4	88	1	0	0	0	0	1	0	0	0	5065	739	26	2	974	2	ELMO1	7	37136283	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	226206	37136283	122002380	381	57803											
GLI3	2737	broad.mit.edu	37	chr7	42005555	42005555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgagactgcgcttctccGcggacgtggccatcgccggg	15	15	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:42005555G>A	uc011kbh.1	-	15	3207	c.3116C>T	c.(3115-3117)GCG>GTG	p.A1039V	GLI3_uc011kbg.1_Missense_Mutation_p.A980V	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1039					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GCGCTTCTCCGCGGACGTGGC	0.687									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42005555	G	A	42005555	3	1	88	1	0	0	0	0	1	0	0	0	6439	1087	38	1	1630	1	GLI3	7	42005555	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	4869272	42005555	117133108	382	57804											
PSMA2	5683	broad.mit.edu	37	chr7	42957428	42957428	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaagttccagatcttcAttatatctgaagaatttaaa	4	7	5	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:42957428A>G	uc003thy.2	-	7	585	c.537T>C	c.(535-537)AAT>AAC	p.N179N	C7orf25_uc010kxr.2_Intron|PSMA2_uc010kxt.2_Silent_p.N101N	NM_002787	NP_002778	P25787	PSA2_HUMAN	proteasome subunit alpha type 2	179					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			large_intestine(2)|ovary(1)	3						CCAGATCTTCATTATATCTGA	0.269													G	42957428	A	G	42957428	2	3	88	1	0	0	0	0	0	0	0	1	12667	214	8	3		3	PSMA2	7	42957428	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	951873	42957428	116181235	383	57805											
ADCY1	107	broad.mit.edu	37	chr7	45699644	45699644	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctcctccttttgtaggaaGgttcatatcacaaagacgac	8	11	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:45699644G>T	uc003tne.3	+	7	1329	c.1311G>T	c.(1309-1311)AAG>AAT	p.K437N	ADCY1_uc003tnd.2_Missense_Mutation_p.K212N	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	437	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TTTGTAGGAAGGTTCATATCA	0.522													T	45699644	G	T	45699644	3	4	88	1	0	0	0	0	1	0	0	0	292	991	35	5	1337	5	ADCY1	7	45699644	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2742216	45699644	113439019	384	57806											
WBSCR17	64409	broad.mit.edu	37	chr7	70853304	70853304	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaggccctgtcggtgatccTgcggtccgtgcacagtgccg	15	14	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:70853304T>C	uc003tvy.2	+	3	506	c.506T>C	c.(505-507)CTG>CCG	p.L169P	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	169	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TCGGTGATCCTGCGGTCCGTG	0.552													C	70853304	T	C	70853304	3	2	88	1	0	0	0	0	1	0	0	0	17261	1580	55	3	516	3	WBSCR17	7	70853304	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	25153660	70853304	88285359	385	57807											
POM121	9883	broad.mit.edu	37	chr7	72416706	72416706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttcattttccattggtgCgggatccaagaccccagggg	11	12	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:72416706C>T	uc003twj.2	+	15	3865	c.2888C>T	c.(2887-2889)GCG>GTG	p.A963V	POM121_uc010lam.1_Intron	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	1228	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore					0		Lung NSC(55;0.163)				TCCATTGGTGCGGGATCCAAG	0.587													T	72416706	C	T	72416706	3	4	88	1	0	0	0	0	1	0	0	0	12239	768	27	1	2934	1	POM121	7	72416706	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1563402	72416706	86721957	386	57808											
BAZ1B	9031	broad.mit.edu	37	chr7	72892375	72892375	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgaggtgtagggctgcaggAggcagatgtttatgaggttt	17	3	0	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:72892375A>T	uc003tyc.2	-	7	1761	c.1416T>A	c.(1414-1416)CCT>CCA	p.P472P		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	472	Lys-rich.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGCTGCAGGAGGCAGATGTT	0.502													T	72892375	A	T	72892375	2	4	88	1	0	0	0	0	0	0	0	1	1330	291	11	5		5	BAZ1B	7	72892375	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	475669	72892375	86246288	387	57809											
MLXIPL	51085	broad.mit.edu	37	chr7	73011913	73011913	+	Frame_Shift_Del	DEL	G	G	-													ccaggcctggcaccttggcaGggggagggtaatgcagcaga							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:73011913delG	uc003tyn.1	-	9	1250	c.1202delC	c.(1201-1203)CCTfs	p.P401fs	MLXIPL_uc003tyj.1_5'UTR|MLXIPL_uc003tyk.1_Frame_Shift_Del_p.P401fs|MLXIPL_uc003tyl.1_Frame_Shift_Del_p.P401fs|MLXIPL_uc003tym.1_Frame_Shift_Del_p.P401fs|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Frame_Shift_Del_p.P308fs|MLXIPL_uc003tyq.1_Frame_Shift_Del_p.P143fs	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	401					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				CACCTTGGCAGGGGGAGGGTA	0.647													-	73011913	G	-	73011913	7	5	88	1	0	1	0	1	0	0	0	0	9637	1000	35	0	1392	0	MLXIPL	7	73011913	Frame_Shift_Del	DEL	G	TCGA-BR-8382-01A-11D-2394-08	119538	73011913	86126750	388	57810											
ELN	2006	broad.mit.edu	37	chr7	73462021	73462021	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtggctatggactgccCtacaccacagggaaactgcc	11	14	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:73462021C>A	uc003tzw.2	+	13	751	c.660C>A	c.(658-660)CCC>CCA	p.P220P	RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_Intron|ELN_uc011kfe.1_Silent_p.P189P|ELN_uc003tzn.2_Silent_p.P220P|ELN_uc003tzz.2_Intron|ELN_uc003tzo.2_Intron|ELN_uc003tzp.2_Silent_p.P176P|ELN_uc003tzq.2_Intron|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Silent_p.P220P|ELN_uc003tzt.2_Silent_p.P225P|ELN_uc003tzu.2_Silent_p.P225P|ELN_uc003tzv.2_Silent_p.P210P|ELN_uc003tzx.2_Silent_p.P210P|ELN_uc011kff.1_Silent_p.P220P|ELN_uc003tzy.2_Silent_p.P215P	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	220					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)	ATGGACTGCCCTACACCACAG	0.597			T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome						A	73462021	C	A	73462021	2	1	88	1	0	0	0	0	0	0	0	1	5071	668	24	5		5	ELN	7	73462021	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	450108	73462021	85676642	389	57811											
GTF2I	2969	broad.mit.edu	37	chr7	74129222	74129222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgatgaaaaacagcccctatCgaagcctttgcaaggtataa	8	9	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:74129222C>T	uc003uau.2	+	10	1179	c.809C>T	c.(808-810)TCG>TTG	p.S270L	GTF2I_uc003uat.2_Intron|GTF2I_uc003uav.2_Missense_Mutation_p.S270L|GTF2I_uc003uaw.2_Intron|GTF2I_uc003uay.2_Missense_Mutation_p.S269L|GTF2I_uc003uax.2_Intron|uc003uaz.2_Intron	NM_032999	NP_127492	P78347	GTF2I_HUMAN	general transcription factor IIi isoform 1	270					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0						CAGCCCCTATCGAAGCCTTTG	0.363													T	74129222	C	T	74129222	3	4	88	1	0	0	0	0	1	0	0	0	6867	893	31	1	843	1	GTF2I	7	74129222	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	667201	74129222	85009441	390	57812											
HIP1	3092	broad.mit.edu	37	chr7	75203108	75203108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgacagtgtagtcataaaGgtggctgcagtccaagatga	12	7	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:75203108G>A	uc003uds.1	-	8	744	c.703C>T	c.(703-705)CTT>TTT	p.L235F	HIP1_uc011kfz.1_Missense_Mutation_p.L112F	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	235					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						TAGTCATAAAGGTGGCTGCAG	0.567			T	PDGFRB	CMML								A	75203108	G	A	75203108	3	1	88	1	0	0	0	0	1	0	0	0	7114	1000	35	4	2506	4	HIP1	7	75203108	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1073886	75203108	83935555	391	57813											
ABCB1	5243	broad.mit.edu	37	chr7	87145866	87145866	+	Frame_Shift_Del	DEL	T	T	-													gtagctgtcaatcaaaggggTtttttcaatgatcatgatga					rs145774816		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:87145865_87145865GT>G	uc003uiz.2	-	24	3537	c.3044_3044AC>C	c.(3043-3045)accfs	p.T1015fs	ABCB1_uc011khc.2_Frame_Shift_Del_p.T951fs	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	1015					G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.K1014R(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AATCAAAGGGGTTTTTTCAAT	0.448													-	87145866	T	-	87145866	7	5	88	1	0	1	0	1	0	0	0	0	40	1725	60	0	819	0	ABCB1	7	87145866	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	11942758	87145866	71992797	392	57814											
HEPACAM2	253012	broad.mit.edu	37	chr7	92855767	92855767	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcctgtcccatgcatgcaGtgccctgttctcagtggtaa	9	13	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:92855767G>T	uc003umm.2	-	1	16	c.-7C>A	c.(-9--5)CACTG>CAATG		HEPACAM2_uc011khy.1_Translation_Start_Site	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 1							integral to membrane				ovary(3)|breast(1)|kidney(1)	5						CATGCATGCAGTGCCCTGTTC	0.498													T	92855767	G	T	92855767	1	4	88	1	0	0	0	0	0	0	0	0	7053	1044	36	5		5	HEPACAM2	7	92855767	Translation_Start_Site	SNP	G	TCGA-BR-8382-01A-11D-2394-08	5709901	92855767	66282896	393	57815											
LMTK2	22853	broad.mit.edu	37	chr7	97822238	97822238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtacctcctacctccttcGaaacagaagaaacgccccgt	7	15	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:97822238G>A	uc003upd.1	+	11	2754	c.2461G>A	c.(2461-2463)GAA>AAA	p.E821K		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	821					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TACCTCCTTCGAAACAGAAGA	0.537													A	97822238	G	A	97822238	3	1	88	1	0	0	0	0	1	0	0	0	8859	1059	37	1	2503	1	LMTK2	7	97822238	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	4966471	97822238	61316425	394	57816											
TRRAP	8295	broad.mit.edu	37	chr7	98559064	98559064	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagccgtccacagccttctcTcgcgcctgatgagcattttc	9	15	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:98559064T>C	uc003upp.2	+	45	6858	c.6649T>C	c.(6649-6651)TCG>CCG	p.S2217P	TRRAP_uc011kis.1_Missense_Mutation_p.S2199P|TRRAP_uc003upr.2_Missense_Mutation_p.S1916P	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2217	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAGCCTTCTCTCGCGCCTGAT	0.557													C	98559064	T	C	98559064	3	2	88	1	0	0	0	0	1	0	0	0	16598	1551	54	3	6765	3	TRRAP	7	98559064	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	736826	98559064	60579599	395	57817											
STAG3	10734	broad.mit.edu	37	chr7	99796140	99796140	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacgcggattgtgagagcgtCtacccagttgtgtatgcctc	13	10	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:99796140C>T	uc003utx.1	+	13	1442	c.1287C>T	c.(1285-1287)GTC>GTT	p.V429V	STAG3_uc010lgs.1_Silent_p.V217V|STAG3_uc011kjk.1_Silent_p.V371V|STAG3_uc003uub.1_5'Flank	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	429					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTGAGAGCGTCTACCCAGTTG	0.517													T	99796140	C	T	99796140	2	4	88	1	0	0	0	0	0	0	0	1	15243	900	32	4		4	STAG3	7	99796140	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1237076	99796140	59342523	396	57818											
C7orf51	222950	broad.mit.edu	37	chr7	100086950	100086950	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctggcctccccccacAgccttccggacccaactgta	8	20	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:100086950A>C	uc003uvd.1	+	4	1765	c.1606A>C	c.(1606-1608)AGC>CGC	p.S536R	C7orf51_uc003uve.1_Missense_Mutation_p.S318R	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	536										skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCCCCCCACAGCCTTCCGGA	0.701													C	100086950	A	C	100086950	3	2	88	1	0	0	0	0	1	0	0	0	2400	188	7	5	1616	5	C7orf51	7	100086950	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	290810	100086950	59051713	397	57819											
MUC17	140453	broad.mit.edu	37	chr7	100687017	100687017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggaccacttccttccccaCggtgaccaccaccgctgtcc	7	20	0	1	rs150141937	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:100687017C>T	uc003uxp.1	+	3	12373	c.12320C>T	c.(12319-12321)ACG>ATG	p.T4107M	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	4107	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTTCCCCACGGTGACCACC	0.537													T	100687017	C	T	100687017	3	4	88	1	0	0	0	0	1	0	0	0	9974	536	19	1	12330	1	MUC17	7	100687017	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	600067	100687017	58451646	398	57820											
TRIM56	81844	broad.mit.edu	37	chr7	100732113	100732113	+	Frame_Shift_Del	DEL	C	C	-													gatgcctggagacaagcggtCcccccggatcaccgggctct							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:100732112_100732112TC>T	uc003uxq.3	+	2	1750	c.1519_1519TC>T	c.(1519-1521)tccfs	p.S507fs	TRIM56_uc003uxr.3_Intron|TRIM56_uc022aiw.1_Frame_Shift_Del_p.S507fs	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.	507					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					AGACAAGCGGTCCCCCCGGAT	0.657													-	100732113	C	-	100732113	7	5	88	1	0	1	0	1	0	0	0	0	16527	855	30	0	1522	0	TRIM56	7	100732113	Frame_Shift_Del	DEL	C	TCGA-BR-8382-01A-11D-2394-08	45096	100732113	58406550	399	57821											
CUX1	1523	broad.mit.edu	37	chr7	101839974	101839975	+	Frame_Shift_Ins	INS	-	-	C													cgcccgggatctttgccggcINScccccctccttctcagttgc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:101839973_101839974G>GC	uc003uys.4	+	14	1442_1443	c.1315_1316G>GC	c.(1315-1317)gccfs	p.A439fs	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Frame_Shift_Ins_p.A428fs	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	428					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G439V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ATCTTTGCCGGCCCCCCCTCCT	0.564													C	101839975	-	C	101839974	7	5	88	1	0	1	1	0	0	0	0	0	4064	739	26	0	1408	0	CUX1	7	101839974	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	1107861	101839974	57298689	400	57822											
CUX1	1523	broad.mit.edu	37	chr7	101926330	101926330	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggttcgctgaccacctgcAcaagttccacgagaatgaca	9	13	0	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:101926330A>G	uc003uyt.2	+	23	2004	c.1985A>G	c.(1984-1986)CAC>CGC	p.H662R	CUX1_uc011kkn.1_Missense_Mutation_p.H623R|CUX1_uc003uyw.2_Missense_Mutation_p.H616R|CUX1_uc003uyv.2_Missense_Mutation_p.H646R|CUX1_uc003uyu.2_Missense_Mutation_p.H660R|CUX1_uc003uyz.2_RNA|SH2B2_uc011kko.1_5'Flank	NM_001913	NP_001904	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform b	Error:Variant_position_missing_in_P39880_after_alignment					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						GACCACCTGCACAAGTTCCAC	0.642													G	101926330	A	G	101926330	3	3	88	1	0	0	0	0	1	0	0	0	4064	159	6	3	5445	3	CUX1	7	101926330	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	86356	101926330	57212333	401	57823											
POLR2J	5439	broad.mit.edu	37	chr7	102114856	102114856	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactgatgaggtcggtgatGgcgttggtaaaggcttcctg	15	7	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:102114856G>A	uc003uzp.1	-	3	344	c.270C>T	c.(268-270)GCC>GCT	p.A90A		NM_006234	NP_006225	P52435	RPB11_HUMAN	DNA directed RNA polymerase II polypeptide J	90					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|LRR domain binding|protein dimerization activity			pancreas(1)	1						GGTCGGTGATGGCGTTGGTAA	0.632													A	102114856	G	A	102114856	2	1	88	1	0	0	0	0	0	0	0	1	12223	1335	47	4		4	POLR2J	7	102114856	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	188526	102114856	57023807	402	57824											
RELN	5649	broad.mit.edu	37	chr7	103130255	103130255	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgtgcccgctgcagagctTggggcaagcctctccaatgt	12	14	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:103130255T>C	uc003vca.2	-	60	9857	c.9697A>G	c.(9697-9699)AAG>GAG	p.K3233E	RELN_uc010liz.2_Missense_Mutation_p.K3233E	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3233	EGF-like 8.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGCAGAGCTTGGGGCAAGCC	0.527													C	103130255	T	C	103130255	3	2	88	1	0	0	0	0	1	0	0	0	13220	1821	63	3	709	3	RELN	7	103130255	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	1015399	103130255	56008408	403	57825											
PRKAR2B	5577	broad.mit.edu	37	chr7	106797730	106797730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtaactaacaaacctcgaGcagcttctgcccacgccatt	7	14	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:106797730G>A	uc003vdx.2	+	10	1259	c.1084G>A	c.(1084-1086)GCA>ACA	p.A362T		NM_002736	NP_002727	P31323	KAP3_HUMAN	cAMP-dependent protein kinase, regulatory	362	cAMP 2.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1						CAAACCTCGAGCAGCTTCTGC	0.488													A	106797730	G	A	106797730	3	1	88	1	0	0	0	0	1	0	0	0	12506	971	34	2	1122	2	PRKAR2B	7	106797730	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	3667475	106797730	52340933	404	57826											
SLC26A4	5172	broad.mit.edu	37	chr7	107303783	107303783	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtgctaaagactcttgtGcccatcttggagtggctccc	12	11	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:107303783G>A	uc003vep.2	+	3	431	c.207G>A	c.(205-207)GTG>GTA	p.V69V	LOC286002_uc003veo.3_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	69	Cytoplasmic (Potential).				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)	7						AGACTCTTGTGCCCATCTTGG	0.468									Pendred_syndrome				A	107303783	G	A	107303783	2	1	88	1	0	0	0	0	0	0	0	1	14519	1306	46	2		2	SLC26A4	7	107303783	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	506053	107303783	51834880	405	57827											
LAMB4	22798	broad.mit.edu	37	chr7	107703425	107703425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgggactcacgccggaagCatggcaggagcatcctgtga	14	11	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:107703425C>T	uc010ljo.1	-	23	3160	c.3076G>A	c.(3076-3078)GCT>ACT	p.A1026T	LAMB4_uc003vey.2_Missense_Mutation_p.A1026T|LAMB4_uc010ljp.1_5'UTR	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1026	Laminin EGF-like 11.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						ACGCCGGAAGCATGGCAGGAG	0.512													T	107703425	C	T	107703425	3	4	88	1	0	0	0	0	1	0	0	0	8613	710	25	2	2257	2	LAMB4	7	107703425	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	399642	107703425	51435238	406	57828											
LAMB4	22798	broad.mit.edu	37	chr7	107706317	107706317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctggacacaggcaaggaCgacagggctgtcctgaagaa	13	10	1	2	rs146445677		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:107706317C>T	uc010ljo.1	-	21	2810	c.2726G>A	c.(2725-2727)CGT>CAT	p.R909H	LAMB4_uc003vey.2_Missense_Mutation_p.R909H|LAMB4_uc010ljp.1_5'Flank	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	909	Laminin EGF-like 8.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						CAGGCAAGGACGACAGGGCTG	0.418													T	107706317	C	T	107706317	3	4	88	1	0	0	0	0	1	0	0	0	8613	536	19	1	2615	1	LAMB4	7	107706317	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2892	107706317	51432346	407	57829											
LRRN3	54674	broad.mit.edu	37	chr7	110763995	110763995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaccaacattcgattcatGgagccagattcactgttttg	7	9	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:110763995G>A	uc003vft.3	+	4	2213	c.1167G>A	c.(1165-1167)ATG>ATA	p.M389I	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.M389I|LRRN3_uc003vfs.3_Missense_Mutation_p.M389I	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	389	Extracellular (Potential).|LRRCT.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TTCGATTCATGGAGCCAGATT	0.458													A	110763995	G	A	110763995	3	1	88	1	0	0	0	0	1	0	0	0	9036	1348	47	4	1169	4	LRRN3	7	110763995	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	3057678	110763995	48374668	408	57830											
C7orf60	154743	broad.mit.edu	37	chr7	112462157	112462157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcttttcatcatcataGcatgacggttctgatgggag	10	9	4	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:112462157G>A	uc003vgo.1	-	5	987	c.860C>T	c.(859-861)GCT>GTT	p.A287V	C7orf60_uc011kms.1_Missense_Mutation_p.A313V	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	hypothetical protein LOC154743	287										ovary(2)|skin(1)	3						CATCATCATAGCATGACGGTT	0.398													A	112462157	G	A	112462157	3	1	88	1	0	0	0	0	1	0	0	0	2407	971	34	2	361	2	C7orf60	7	112462157	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1698162	112462157	46676506	409	57831											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519374	113519374	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggttaacacagcttcttcCcaacttaaatttgtccttgg	8	10	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:113519374C>T	uc010ljy.1	-	4	1804	c.1773G>A	c.(1771-1773)TGG>TGA	p.W591*		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	591					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						CAGCTTCTTCCCAACTTAAAT	0.473													T	113519374	C	T	113519374	4	4	88	1	0	0	0	0	0	1	0	0	12371	624	22	4	1599	4	PPP1R3A	7	113519374	Nonsense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1057217	113519374	45619289	410	57832											
CTTNBP2	83992	broad.mit.edu	37	chr7	117424458	117424459	+	Frame_Shift_Ins	INS	-	-	G													agggtgggcctgccagccagINSgggggcaggaccaccactca							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:117424457_117424458A>AG	uc003vjf.3	-	4	2211_2212	c.2119_2120T>CT	c.(2119-2121)ctgfs	p.L707fs		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	707										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCTGCCAGCCAGGGGGGCAGGA	0.515													G	117424459	-	G	117424458	7	5	88	1	0	1	1	0	0	0	0	0	4045	991	35	0	2948	0	CTTNBP2	7	117424458	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	3905084	117424458	41714205	411	57833											
FAM71F1	84691	broad.mit.edu	37	chr7	128359092	128359092	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctaggattcttgtcacgcaCtgcctggtacccaagaactg	9	13	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:128359092C>G	uc003vno.1	+	3	695	c.642C>G	c.(640-642)CAC>CAG	p.H214Q	FAM71F1_uc010llo.1_Missense_Mutation_p.H115Q|FAM71F1_uc011koq.1_Missense_Mutation_p.H106Q|FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.H115Q|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Missense_Mutation_p.H214Q	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	testes development-related NYD-SP18	214										skin(1)	1						TTGTCACGCACTGCCTGGTAC	0.532													G	128359092	C	G	128359092	3	3	88	1	0	0	0	0	1	0	0	0	5612	564	20	5	652	5	FAM71F1	7	128359092	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	10934634	128359092	30779571	412	57834											
FAM71F1	84691	broad.mit.edu	37	chr7	128370103	128370103	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctggcagcctccaccgggcCacagctggccccacccatag	10	19	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:128370103C>A	uc003vno.1	+	6	1054	c.1001C>A	c.(1000-1002)CCA>CAA	p.P334Q	FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.P233Q|FAM71F1_uc003vnp.1_Missense_Mutation_p.P332Q	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	testes development-related NYD-SP18	334										skin(1)	1						TCCACCGGGCCACAGCTGGCC	0.632													A	128370103	C	A	128370103	3	1	88	1	0	0	0	0	1	0	0	0	5612	594	21	5	1023	5	FAM71F1	7	128370103	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	11011	128370103	30768560	413	57835											
NRF1	4899	broad.mit.edu	37	chr7	129317486	129317486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcaggaaacttcgagccaCgttagatgaatatactactc	7	9	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:129317486C>T	uc003voz.2	+	4	470	c.353C>T	c.(352-354)ACG>ATG	p.T118M	NRF1_uc003vpa.2_Missense_Mutation_p.T118M|NRF1_uc011kpa.1_Translation_Start_Site|NRF1_uc003vpb.2_Missense_Mutation_p.T118M	NM_005011	NP_005002	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	118					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						CTTCGAGCCACGTTAGATGAA	0.393													T	129317486	C	T	129317486	3	4	88	1	0	0	0	0	1	0	0	0	10646	536	19	1	363	1	NRF1	7	129317486	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	947383	129317486	29821177	414	57836											
CPA5	93979	broad.mit.edu	37	chr7	130007805	130007806	+	Frame_Shift_Ins	INS	-	-	T													gtccatgggatcgagtacatINSttttggcagcatcagcacca							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:130007804_130007805A>AT	uc010lmd.1	+	12	1716_1717	c.1096_1097A>AT	c.(1096-1098)attfs	p.I366fs	CPA5_uc003vps.2_Frame_Shift_Ins_p.I366fs|CPA5_uc003vpt.2_Intron|CPA5_uc010lme.1_Frame_Shift_Ins_p.I366fs|CPA5_uc003vpu.1_Frame_Shift_Ins_p.I366fs|AK097910_uc003vpv.1_Non-coding_Transcript	NM_001127441	NP_525124	Q8WXQ8	CBPA5_HUMAN	Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA.	366					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GATCGAGTACATTTTTGGCAGC	0.589													T	130007806	-	T	130007805	7	5	88	1	0	1	1	0	0	0	0	0	3793	1493	52	0	1135	0	CPA5	7	130007805	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	690319	130007805	29130858	415	57837											
AKR1B1	231	broad.mit.edu	37	chr7	134135550	134135550	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcccataccttaaagccagtCggccagtgaataaggtagag	10	10	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:134135550C>T	uc003vrp.1	-	3	413	c.339G>A	c.(337-339)CCG>CCA	p.P113P	AKR1B1_uc003vrq.1_RNA	NM_001628	NP_001619	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1	113					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	p.P113L(1)		ovary(3)	3					NADH(DB00157)|Sulindac(DB00605)	TAAAGCCAGTCGGCCAGTGAA	0.562													T	134135550	C	T	134135550	2	4	88	1	0	0	0	0	0	0	0	1	466	871	31	1		1	AKR1B1	7	134135550	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	4127745	134135550	25003113	416	57838											
CHRM2	1129	broad.mit.edu	37	chr7	136700458	136700458	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggagaggagaaggagagCtccaatgactccacctcagt	13	10	1	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:136700458C>T	uc003vtf.1	+	4	1469	c.846C>T	c.(844-846)AGC>AGT	p.S282S	CHRM2_uc003vtg.1_Silent_p.S282S|CHRM2_uc003vtj.1_Silent_p.S282S|CHRM2_uc003vtk.1_Silent_p.S282S|CHRM2_uc003vtl.1_Silent_p.S282S|CHRM2_uc003vtm.1_Silent_p.S282S|CHRM2_uc003vti.1_Silent_p.S282S|CHRM2_uc003vto.1_Silent_p.S282S|CHRM2_uc003vtn.1_Silent_p.S282S|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	282	Cytoplasmic (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AGAAGGAGAGCTCCAATGACT	0.502													T	136700458	C	T	136700458	2	4	88	1	0	0	0	0	0	0	0	1	3377	796	28	2		2	CHRM2	7	136700458	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2564908	136700458	22438205	417	57839											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138444498	138444498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcccaaggttcccaccGtcacaggatcctccagaggg	11	15	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:138444498G>A	uc003vuf.2	-	7	876	c.638C>T	c.(637-639)ACG>ATG	p.T213M	ATP6V0A4_uc003vug.2_Missense_Mutation_p.T213M|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.T213M	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	213	Cytoplasmic (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1						GGTTCCCACCGTCACAGGATC	0.522													A	138444498	G	A	138444498	3	1	88	1	0	0	0	0	1	0	0	0	1170	1159	40	1	1944	1	ATP6V0A4	7	138444498	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1744040	138444498	20694165	418	57840											
KIAA1549	57670	broad.mit.edu	37	chr7	138603675	138603675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaggtgcgaaaagctgaccGaaaggtgtggaaatgactgg	16	5	0	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:138603675G>A	uc011kql.1	-	2	746	c.697C>T	c.(697-699)CGG>TGG	p.R233W	KIAA1549_uc003vuk.3_Missense_Mutation_p.R183W|KIAA1549_uc011kqj.1_Missense_Mutation_p.R233W	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	233						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						AAAGCTGACCGAAAGGTGTGG	0.493			O	BRAF	pilocytic astrocytoma								A	138603675	G	A	138603675	3	1	88	1	0	0	0	0	1	0	0	0	8244	1057	37	1	5231	1	KIAA1549	7	138603675	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	159177	138603675	20534988	419	57841											
DENND2A	27147	broad.mit.edu	37	chr7	140301723	140301723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttgacctgcttcagcaCggagaggggatcgttctgaa	12	9	3	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:140301723C>T	uc010lnj.2	-	1	620	c.475G>A	c.(475-477)GTG>ATG	p.V159M	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.V159M|DENND2A_uc003vvw.2_Missense_Mutation_p.V159M|DENND2A_uc003vvx.2_Missense_Mutation_p.V159M	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	159										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					TGCTTCAGCACGGAGAGGGGA	0.592													T	140301723	C	T	140301723	3	4	88	1	0	0	0	0	1	0	0	0	4429	536	19	1	2626	1	DENND2A	7	140301723	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1698048	140301723	18836940	420	57842											
EPHA1	2041	broad.mit.edu	37	chr7	143096874	143096874	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggcctggggctggcccgCgcgtggggcaagcaggtccc	20	13	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:143096874C>T	uc003wcz.2	-	4	792	c.705G>A	c.(703-705)GCG>GCA	p.A235A		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	235	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GGCTGGCCCGCGCGTGGGGCA	0.677													T	143096874	C	T	143096874	2	4	88	1	0	0	0	0	0	0	0	1	5165	755	27	1		1	EPHA1	7	143096874	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2795151	143096874	16041789	421	57843											
TAS2R41	259287	broad.mit.edu	37	chr7	143175407	143175408	+	Frame_Shift_Ins	INS	-	-	T													cttcatcataaccctgctgtINSttttttgggtgaactaccct							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:143175406_143175407G>GT	uc003wdc.1	+	0	441_442	c.441_442G>GT	c.(439-444)ctgtttfs	p.L147fs	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	147					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.L147L(2)		endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TAACCCTGCTGTTTTTTTGGGT	0.441													T	143175408	-	T	143175407	7	5	88	1	0	1	1	0	0	0	0	0	15576	1725	60	0	444	0	TAS2R41	7	143175407	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	78533	143175407	15963256	422	57844											
LOC441294	441294	broad.mit.edu	37	chr7	143268907	143268907	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccgccagagcagcctcgaCgctatggaggagcccggtgc	15	14	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:143268907C>T	uc011kth.1	+	1	18	c.-3C>T	c.(-5--1)GACGC>GATGC			NM_001008747	NP_001008747	A4D2H0	A4D2H0_HUMAN	hypothetical protein LOC441294												0	Melanoma(164;0.0903)					GCAGCCTCGACGCTATGGAGG	0.617													T	143268907	C	T	143268907	1	4	88	1	0	0	0	0	0	0	0	0	8880	551	19	1		1	LOC441294	7	143268907	Translation_Start_Site	SNP	C	TCGA-BR-8382-01A-11D-2394-08	93500	143268907	15869756	423	57845											
CNTNAP2	26047	broad.mit.edu	37	chr7	147675027	147675027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggttggagatactgacCgtcaaggctcagaagccaaa	13	8	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:147675027C>T	uc003weu.1	+	15	2845	c.2329C>T	c.(2329-2331)CGT>TGT	p.R777C		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	777	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGATACTGACCGTCAAGGCTC	0.478										HNSCC(39;0.1)			T	147675027	C	T	147675027	3	4	88	1	0	0	0	0	1	0	0	0	3647	652	23	1	2387	1	CNTNAP2	7	147675027	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	4406120	147675027	11463636	424	57846											
CUL1	8454	broad.mit.edu	37	chr7	148454198	148454198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaatagacattgggttcgcCgtgaatgtgacgaaggacga	13	7	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:148454198C>T	uc010lpg.2	+	4	965	c.439C>T	c.(439-441)CGT>TGT	p.R147C	CUL1_uc003wey.2_Missense_Mutation_p.R147C|CUL1_uc003wez.2_Missense_Mutation_p.R37C	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	147					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TTGGGTTCGCCGTGAATGTGA	0.313													T	148454198	C	T	148454198	3	4	88	1	0	0	0	0	1	0	0	0	4054	652	23	1	449	1	CUL1	7	148454198	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	779171	148454198	10684465	425	57847											
CUL1	8454	broad.mit.edu	37	chr7	148464767	148464768	+	Frame_Shift_Ins	INS	-	-	A													ggatggcctaggagaattgaINSaaaaactgttggagacacac							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:148464766_148464767G>GA	uc010lpg.3	+	8	1534_1535	c.1008_1009G>GA	c.(1006-1011)ttgaaafs	p.L336fs	CUL1_uc003wey.3_Frame_Shift_Ins_p.L336fs|CUL1_uc003wez.3_Frame_Shift_Ins_p.L226fs	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	336					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination	SCF ubiquitin ligase complex|cytosol|nucleoplasm	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TAGGAGAATTGAAAAAACTGTT	0.376													A	148464768	-	A	148464767	7	5	88	1	0	1	1	0	0	0	0	0	4054	247	9	0	1039	0	CUL1	7	148464767	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	10569	148464767	10673896	426	57848											
MLL3	58508	broad.mit.edu	37	chr7	151960144	151960144	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtactgatttcataactggtTgaagacaaaaagtatgatac	8	5	1	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:151960144T>C	uc003wla.2	-	9	1475	c.1256A>G	c.(1255-1257)CAA>CGA	p.Q419R		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	419	PHD-type 2.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CATAACTGGTTGAAGACAAAA	0.333			N		medulloblastoma								C	151960144	T	C	151960144	3	2	88	1	0	0	0	0	1	0	0	0	9622	1812	63	3	13683	3	MLL3	7	151960144	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	3495377	151960144	7178519	427	57849											
TNKS	8658	broad.mit.edu	37	chr8	9564436	9564436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagccatggcgctgatcctaCattagtcaactgccatggca	9	12	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:9564436C>T	uc003wss.2	+	8	1390	c.1385C>T	c.(1384-1386)ACA>ATA	p.T462I	TNKS_uc011kwv.1_Missense_Mutation_p.T462I|TNKS_uc011kww.1_Missense_Mutation_p.T225I	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	462	ANK 6.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		GCTGATCCTACATTAGTCAAC	0.468													T	9564436	C	T	9564436	3	4	88	1	0	0	0	0	1	0	0	0	16316	478	17	4	1415	4	TNKS	8	9564436	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08		9564436	136799586	428	57850											
SOX7	83595	broad.mit.edu	37	chr8	10584161	10584161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctgggacagcgtcagcGccttccacgactttcctgct	9	15	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:10584161G>A	uc003wtf.2	-	2	333	c.254C>T	c.(253-255)GCG>GTG	p.A85V	SOX7_uc011kwz.1_Missense_Mutation_p.A137V|uc003wtg.1_5'Flank	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	85	HMG box.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)	1				COAD - Colon adenocarcinoma(149;0.0732)		CAGCGTCAGCGCCTTCCACGA	0.542													A	10584161	G	A	10584161	3	1	88	1	0	0	0	0	1	0	0	0	14956	1087	38	1	916	1	SOX7	8	10584161	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1019725	10584161	135779861	429	57851											
TUSC3	7991	broad.mit.edu	37	chr8	15480617	15480617	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgaaaaagtagagcagcTgatggaatggagttccagac	13	6	0	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:15480617T>C	uc003wwt.2	+	2	377	c.167T>C	c.(166-168)CTG>CCG	p.L56P	TUSC3_uc003wwr.2_Missense_Mutation_p.L56P|TUSC3_uc003wws.2_Missense_Mutation_p.L56P|TUSC3_uc003wwu.2_Missense_Mutation_p.L56P|TUSC3_uc003wwv.2_Missense_Mutation_p.L56P|TUSC3_uc003www.2_Missense_Mutation_p.L56P|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.L56P	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	56					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		GTAGAGCAGCTGATGGAATGG	0.338													C	15480617	T	C	15480617	3	2	88	1	0	0	0	0	1	0	0	0	16775	1580	55	3	173	3	TUSC3	8	15480617	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	4896456	15480617	130883405	430	57852											
SLC7A2	6542	broad.mit.edu	37	chr8	17401103	17401103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtgatggctggcctctgCtatgccgaatttggggcccg	14	11	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:17401103C>T	uc011kyc.1	+	2	424	c.255C>T	c.(253-255)TGC>TGT	p.C85C	SLC7A2_uc011kyd.1_Silent_p.C125C|SLC7A2_uc011kye.1_Silent_p.C125C|SLC7A2_uc011kyf.1_Silent_p.C85C	NM_001008539	NP_001008539	P52569	CTR2_HUMAN	solute carrier family 7, member 2 isoform 2	85	Cytoplasmic (Potential).				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			ovary(2)|skin(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGGCCTCTGCTATGCCGAAT	0.587													T	17401103	C	T	17401103	2	4	88	1	0	0	0	0	0	0	0	1	14697	805	28	2		2	SLC7A2	8	17401103	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1920486	17401103	128962919	431	57853											
XPO7	23039	broad.mit.edu	37	chr8	21827021	21827021	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcccagttactggcagctAcatgccttaccaagcttgta	7	13	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:21827021A>G	uc003xaa.3	+	3	295	c.193A>G	c.(193-195)ACA>GCA	p.T65A	XPO7_uc010lti.2_Missense_Mutation_p.T65A|XPO7_uc010ltj.1_RNA|XPO7_uc010ltk.2_Missense_Mutation_p.T66A	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	65	Importin N-terminal.				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		ACTGGCAGCTACATGCCTTAC	0.408													G	21827021	A	G	21827021	3	3	88	1	0	0	0	0	1	0	0	0	17446	391	14	3	228	3	XPO7	8	21827021	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	4425918	21827021	124537001	432	57854											
FGF17	8822	broad.mit.edu	37	chr8	21905676	21905676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccttccccaaccacgcCgagaagcagaagcagttcga	9	16	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:21905676C>T	uc003xag.2	+	5	579	c.567C>T	c.(565-567)GCC>GCT	p.A189A	FGF17_uc003xah.2_Silent_p.A178A|FGF17_uc003xai.2_Silent_p.A212A	NM_003867	NP_003858	O60258	FGF17_HUMAN	fibroblast growth factor 17 precursor	189					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		CCAACCACGCCGAGAAGCAGA	0.706													T	21905676	C	T	21905676	2	4	88	1	0	0	0	0	0	0	0	1	5845	639	23	1		1	FGF17	8	21905676	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	78655	21905676	124458346	433	57855											
NUDT18	79873	broad.mit.edu	37	chr8	21965188	21965188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacacccacactgtctgggCgctggtaaaggtagccacga	11	12	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:21965188C>T	uc003xaq.1	-	6	714	c.595G>A	c.(595-597)GCC>ACC	p.A199T	NUDT18_uc003xar.1_3'UTR	NM_024815	NP_079091	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety	199							hydrolase activity|metal ion binding|protein binding				0				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		ACTGTCTGGGCGCTGGTAAAG	0.612													T	21965188	C	T	21965188	3	4	88	1	0	0	0	0	1	0	0	0	10735	768	27	1	380	1	NUDT18	8	21965188	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	59512	21965188	124398834	434	57856											
SLC39A14	23516	broad.mit.edu	37	chr8	22273425	22273425	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgagctggacggcaaggcGcccatggtggacgagaaggt	18	8	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:22273425G>A	uc003xbq.3	+	6	1069	c.894G>A	c.(892-894)GCG>GCA	p.A298A	SLC39A14_uc011kzg.1_Silent_p.A298A|SLC39A14_uc003xbp.3_Silent_p.A298A|SLC39A14_uc011kzh.1_Silent_p.A298A	NM_001128431	NP_001121903	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter),	298	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity				0				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		ACGGCAAGGCGCCCATGGTGG	0.602													A	22273425	G	A	22273425	2	1	88	1	0	0	0	0	0	0	0	1	14617	1074	38	1		1	SLC39A14	8	22273425	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	308237	22273425	124090597	435	57857											
ADRA1A	148	broad.mit.edu	37	chr8	26721669	26721669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgaccacgatgcccagcGttttggccgctttcttctcc	9	16	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:26721669G>A	uc003xfh.1	-	1	1254	c.818C>T	c.(817-819)ACG>ATG	p.T273M	ADRA1A_uc003xfc.1_Missense_Mutation_p.T273M|ADRA1A_uc010lul.1_Missense_Mutation_p.T273M|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.T273M|ADRA1A_uc010lum.1_Missense_Mutation_p.T273M|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.T273M	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	273	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GATGCCCAGCGTTTTGGCCGC	0.582													A	26721669	G	A	26721669	3	1	88	1	0	0	0	0	1	0	0	0	334	1145	40	1	881	1	ADRA1A	8	26721669	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	4448244	26721669	119642353	436	57858											
PTK2B	2185	broad.mit.edu	37	chr8	27293788	27293788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccacagtatggcattgccCgtgaagatgtggtcctgaat	12	9	0	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:27293788C>T	uc003xfn.1	+	20	2072	c.1264C>T	c.(1264-1266)CGT>TGT	p.R422C	PTK2B_uc003xfo.1_Missense_Mutation_p.R422C|PTK2B_uc003xfp.1_Missense_Mutation_p.R422C|PTK2B_uc003xfq.1_Missense_Mutation_p.R422C|PTK2B_uc010luq.1_Missense_Mutation_p.R180C|PTK2B_uc003xfr.1_Missense_Mutation_p.R168C	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	422					apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TGGCATTGCCCGTGAAGATGT	0.493													T	27293788	C	T	27293788	3	4	88	1	0	0	0	0	1	0	0	0	12763	652	23	1	1318	1	PTK2B	8	27293788	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	572119	27293788	119070234	437	57859											
NRG1	3084	broad.mit.edu	37	chr8	32621514	32621514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttccaccacaaccccgCgcatgacagtaacagcctcc	5	20	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:32621514C>T	uc003xiv.2	+	12	2034	c.1517C>T	c.(1516-1518)GCG>GTG	p.A506V	NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.A511V|NRG1_uc003xiw.2_Missense_Mutation_p.A503V|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.A248V|NRG1_uc010lvs.2_Missense_Mutation_p.A248V|NRG1_uc010lvp.2_Missense_Mutation_p.A460V|NRG1_uc010lvq.2_Missense_Mutation_p.A443V|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.A349V|NRG1_uc003xja.2_Missense_Mutation_p.A317V	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	506	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CACAACCCCGCGCATGACAGT	0.547													T	32621514	C	T	32621514	3	4	88	1	0	0	0	0	1	0	0	0	10647	768	27	1	3288	1	NRG1	8	32621514	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	5327726	32621514	113742508	438	57860											
UNC5D	137970	broad.mit.edu	37	chr8	35647984	35647984	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactccctggcctgtgcccTtgaagagattgggaggacac	13	11	0	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:35647984T>G	uc003xjr.1	+	17	3093	c.2765T>G	c.(2764-2766)CTT>CGT	p.L922R	UNC5D_uc003xjs.1_Missense_Mutation_p.L917R|UNC5D_uc003xju.1_Missense_Mutation_p.L498R	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	922	Death.|Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GCCTGTGCCCTTGAAGAGATT	0.478													G	35647984	T	G	35647984	3	3	88	1	0	0	0	0	1	0	0	0	16992	1609	56	5	2831	5	UNC5D	8	35647984	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	3026470	35647984	110716038	439	57861											
CHRNB3	1142	broad.mit.edu	37	chr8	42565570	42565570	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgacaaccaatgtgtggcTcaaacaggtaaatttcaatc	8	8	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:42565570T>C	uc003xpi.1	+	3	370	c.242T>C	c.(241-243)CTC>CCC	p.L81P		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	81	Extracellular (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AATGTGTGGCTCAAACAGGTA	0.308													C	42565570	T	C	42565570	3	2	88	1	0	0	0	0	1	0	0	0	3392	1551	54	3	252	3	CHRNB3	8	42565570	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	6917586	42565570	103798452	440	57862											
PRKDC	5591	broad.mit.edu	37	chr8	48772214	48772214	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtctagggtcttgggaGctgtatgaatagctctgaac	14	7	3	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:48772214G>T	uc003xqi.2	-	47	6222	c.6165C>A	c.(6163-6165)AGC>AGA	p.S2055R	PRKDC_uc003xqj.2_Missense_Mutation_p.S2055R|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2055					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGTCTTGGGAGCTGTATGAAT	0.443								NHEJ					T	48772214	G	T	48772214	3	4	88	1	0	0	0	0	1	0	0	0	12521	962	34	5	6385	5	PRKDC	8	48772214	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	6206644	48772214	97591808	441	57863											
RGS20	8601	broad.mit.edu	37	chr8	54791937	54791937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctccggcgaccccctccCgaggctccccggaggcgcct	11	21	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:54791937C>T	uc003xrp.2	+	2	377	c.285C>T	c.(283-285)CCC>CCT	p.P95P	RGS20_uc003xrq.2_Intron|RGS20_uc010lye.2_Intron|RGS20_uc010lyf.2_Intron|RGS20_uc003xrr.2_5'Flank|RGS20_uc003xrs.2_5'Flank|RGS20_uc003xrt.2_5'Flank	NM_170587	NP_733466	O76081	RGS20_HUMAN	regulator of G-protein signaling 20 isoform a	95					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GACCCCCTCCCGAGGCTCCCC	0.726													T	54791937	C	T	54791937	2	4	88	1	0	0	0	0	0	0	0	1	13303	639	23	1		1	RGS20	8	54791937	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	6019723	54791937	91572085	442	57864											
MTFR1	9650	broad.mit.edu	37	chr8	66619471	66619471	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttaaagagatgaacagtgtAaaacttcggtcagtgaagag	11	5	1	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:66619471A>G	uc003xvm.2	+	6	956	c.744A>G	c.(742-744)GTA>GTG	p.V248V	MTFR1_uc011lep.1_Silent_p.V248V|MTFR1_uc003xvn.2_Silent_p.V215V|MTFR1_uc003xvo.1_Silent_p.V238V	NM_014637	NP_055452	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1 isoform 1	248						mitochondrion|plasma membrane				pancreas(1)	1			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TGAACAGTGTAAAACTTCGGT	0.383													G	66619471	A	G	66619471	2	3	88	1	0	0	0	0	0	0	0	1	9925	349	13	3		3	MTFR1	8	66619471	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	11827534	66619471	79744551	443	57865											
TRIM55	84675	broad.mit.edu	37	chr8	67039509	67039509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggacagcgaggagatgagCgcatctctgaattacaaatc	13	8	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:67039509C>T	uc003xvv.2	+	1	232	c.6C>T	c.(4-6)AGC>AGT	p.S2S	TRIM55_uc003xvu.2_Silent_p.S2S|TRIM55_uc003xvw.2_Silent_p.S2S|TRIM55_uc003xvx.2_Silent_p.S2S	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	2						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AGGAGATGAGCGCATCTCTGA	0.478													T	67039509	C	T	67039509	2	4	88	1	0	0	0	0	0	0	0	1	16526	767	27	1		1	TRIM55	8	67039509	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	420038	67039509	79324513	444	57866											
CSPP1	79848	broad.mit.edu	37	chr8	68105705	68105705	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttctaactacaggatagcAgtcgtcctaatgtagcacca	7	10	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:68105705A>G	uc003xxi.2	+	30	3458	c.3427A>G	c.(3427-3429)AGT>GGT	p.S1143G	ARFGEF1_uc003xxl.1_Intron|CSPP1_uc003xxj.2_Missense_Mutation_p.S1108G|CSPP1_uc003xxk.2_Missense_Mutation_p.S763G|CSPP1_uc010lyw.2_Intron	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	1143						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACAGGATAGCAGTCGTCCTAA	0.323													G	68105705	A	G	68105705	3	3	88	1	0	0	0	0	1	0	0	0	3962	188	7	3	3545	3	CSPP1	8	68105705	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	1066196	68105705	78258317	445	57867											
PREX2	80243	broad.mit.edu	37	chr8	68864748	68864748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgagcgggactatgtggGcacgctggagttcctggtgt	17	9	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:68864748G>A	uc003xxv.1	+	1	146	c.119G>A	c.(118-120)GGC>GAC	p.G40D	PREX2_uc003xxu.1_Missense_Mutation_p.G40D|PREX2_uc011lez.1_Missense_Mutation_p.G40D|PREX2_uc003xxt.2_Missense_Mutation_p.G40D	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	40	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GACTATGTGGGCACGCTGGAG	0.612													A	68864748	G	A	68864748	3	1	88	1	0	0	0	0	1	0	0	0	12477	1203	42	2	121	2	PREX2	8	68864748	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	759043	68864748	77499274	446	57868											
PREX2	80243	broad.mit.edu	37	chr8	68972999	68972999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaagcattattagaaaatGgaatcattcaccatggtaat	7	6	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:68972999G>A	uc003xxv.1	+	11	1351	c.1324G>A	c.(1324-1326)GGA>AGA	p.G442R	PREX2_uc003xxu.1_Missense_Mutation_p.G442R|PREX2_uc011lez.1_Missense_Mutation_p.G377R	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	442	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						ATTAGAAAATGGAATCATTCA	0.348													A	68972999	G	A	68972999	3	1	88	1	0	0	0	0	1	0	0	0	12477	1349	47	4	1366	4	PREX2	8	68972999	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	108251	68972999	77391023	447	57869											
SULF1	23213	broad.mit.edu	37	chr8	70533371	70533371	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagcacgcggaacctctaCgctcgcggcttccatgacaa	10	15	1	2	rs146435519		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:70533371C>T	uc010lza.1	+	14	2196	c.1479C>T	c.(1477-1479)TAC>TAT	p.Y493Y	SULF1_uc003xyd.2_Silent_p.Y493Y|SULF1_uc003xye.2_Silent_p.Y493Y|SULF1_uc003xyf.2_Silent_p.Y493Y|SULF1_uc003xyg.2_Silent_p.Y493Y|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	493					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GGAACCTCTACGCTCGCGGCT	0.512													T	70533371	C	T	70533371	2	4	88	1	0	0	0	0	0	0	0	1	15369	547	19	1		1	SULF1	8	70533371	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1560372	70533371	75830651	448	57870											
NCOA2	10499	broad.mit.edu	37	chr8	71036947	71036947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgcccatgttcccctgcGcccatccatttatgtcggag	8	16	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:71036947G>A	uc003xyn.1	-	20	4232	c.4070C>T	c.(4069-4071)GCG>GTG	p.A1357V	NCOA2_uc011lfb.1_Missense_Mutation_p.A445V	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1357					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTTCCCCTGCGCCCATCCATT	0.557			T	RUNXBP2	AML								A	71036947	G	A	71036947	3	1	88	1	0	0	0	0	1	0	0	0	10229	1087	38	1	340	1	NCOA2	8	71036947	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	503576	71036947	75327075	449	57871											
ZFHX4	79776	broad.mit.edu	37	chr8	77618450	77618450	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtaactactctaccacTaccaaaggcaacctcagtat	5	12	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:77618450T>C	uc003yav.2	+	2	2514	c.2127T>C	c.(2125-2127)ACT>ACC	p.T709T	ZFHX4_uc003yat.1_Silent_p.T709T|ZFHX4_uc003yau.1_Silent_p.T709T|ZFHX4_uc003yaw.1_Silent_p.T709T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	709	C2H2-type 3.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTCTACCACTACCAAAGGCA	0.493										HNSCC(33;0.089)			C	77618450	T	C	77618450	2	2	88	1	0	0	0	0	0	0	0	1	17632	1509	53	3		3	ZFHX4	8	77618450	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	6581503	77618450	68745572	450	57872											
ZFHX4	79776	broad.mit.edu	37	chr8	77775599	77775599	+	Frame_Shift_Del	DEL	A	A	-													ccaaacccgaaaaacaccccAaaaaagaggaaaaaatctca							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:77775598_77775598CA>C	uc003yau.2	+	10	10035	c.9648_9648CA>C	c.(9646-9648)cccfs	p.P3216fs		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3167						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAAACACCCCAAAAAAGAGG	0.398										HNSCC(33;0.089)			-	77775599	A	-	77775599	7	5	88	1	0	1	0	1	0	0	0	0	17632	131	5	0	9687	0	ZFHX4	8	77775599	Frame_Shift_Del	DEL	A	TCGA-BR-8382-01A-11D-2394-08	157149	77775599	68588423	451	57873											
ESRP1	54845	broad.mit.edu	37	chr8	95690487	95690487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagttattcctacagaaGctgccatttaccagccctct	6	14	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:95690487G>A	uc003ygq.3	+	13	1891	c.1708G>A	c.(1708-1710)GCT>ACT	p.A570T	ESRP1_uc003ygr.3_Missense_Mutation_p.A566T|ESRP1_uc003ygs.3_Missense_Mutation_p.A566T|ESRP1_uc003ygt.3_Missense_Mutation_p.A570T|ESRP1_uc003ygu.3_Missense_Mutation_p.A566T|ESRP1_uc003ygv.2_Missense_Mutation_p.A410T|ESRP1_uc003ygw.2_Missense_Mutation_p.A410T	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	570					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						TCCTACAGAAGCTGCCATTTA	0.488													A	95690487	G	A	95690487	3	1	88	1	0	0	0	0	1	0	0	0	5258	971	34	2	1758	2	ESRP1	8	95690487	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	17914888	95690487	50673535	452	57874											
PLEKHF2	79666	broad.mit.edu	37	chr8	96166659	96166659	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaatcatataaataaatgTgttactgatttactctccaa	4	6	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:96166659T>G	uc003yhn.1	+	2	634	c.387T>G	c.(385-387)TGT>TGG	p.C129W		NM_024613	NP_078889	Q9H8W4	PKHF2_HUMAN	phafin 2	129	PH.					transport vesicle	metal ion binding|protein binding			ovary(2)	2	Breast(36;3.18e-05)					TAAATAAATGTGTTACTGATT	0.408													G	96166659	T	G	96166659	3	3	88	1	0	0	0	0	1	0	0	0	12067	1702	59	5	389	5	PLEKHF2	8	96166659	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	476172	96166659	50197363	453	57875											
GDF6	392255	broad.mit.edu	37	chr8	97157634	97157634	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggctggtggcccccagggCgctgagggcgcctggcgaaa	18	14	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:97157634C>T	uc003yhp.2	-	2	625	c.525G>A	c.(523-525)GCG>GCA	p.A175A		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	175					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					GCCCCCAGGGCGCTGAGGGCG	0.672													T	97157634	C	T	97157634	2	4	88	1	0	0	0	0	0	0	0	1	6317	755	27	1		1	GDF6	8	97157634	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	990975	97157634	49206388	454	57876											
TSPYL5	85453	broad.mit.edu	37	chr8	98289667	98289667	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgccggtttccaacgcgggGggcatttttcggccttccca	12	14	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:98289667G>T	uc003yhy.2	-	1	510	c.406C>A	c.(406-408)CCC>ACC	p.P136T		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	136					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)					CCAACGCGGGGGGCATTTTTC	0.682													T	98289667	G	T	98289667	3	4	88	1	0	0	0	0	1	0	0	0	16659	1232	43	5	851	5	TSPYL5	8	98289667	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1132033	98289667	48074355	455	57877											
VPS13B	157680	broad.mit.edu	37	chr8	100148975	100148975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaatggagaacactagtgGcaaaggtattggcttctttc	10	7	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:100148975G>A	uc003yiv.2	+	12	1757	c.1646G>A	c.(1645-1647)GGC>GAC	p.G549D	VPS13B_uc003yiw.2_Missense_Mutation_p.G549D|VPS13B_uc003yit.2_Missense_Mutation_p.G549D|VPS13B_uc003yiu.1_Missense_Mutation_p.G549D|VPS13B_uc003yix.1_Missense_Mutation_p.G20D	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	549					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AACACTAGTGGCAAAGGTATT	0.423													A	100148975	G	A	100148975	3	1	88	1	0	0	0	0	1	0	0	0	17187	1203	42	2	1730	2	VPS13B	8	100148975	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1859308	100148975	46215047	456	57878											
NCALD	83988	broad.mit.edu	37	chr8	102731539	102731539	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttccgtccaggtcgtacaTgctgaaggcccatttcagct	9	12	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:102731539T>C	uc003yke.2	-	2	688	c.319A>G	c.(319-321)ATG>GTG	p.M107V	NCALD_uc003ykf.2_Missense_Mutation_p.M107V|NCALD_uc003ykg.2_Missense_Mutation_p.M107V|NCALD_uc003ykh.2_Missense_Mutation_p.M107V|NCALD_uc003yki.2_Missense_Mutation_p.M107V|NCALD_uc003ykj.2_Missense_Mutation_p.M107V|NCALD_uc003ykk.2_Missense_Mutation_p.M107V|NCALD_uc003ykl.2_Missense_Mutation_p.M107V	NM_032041	NP_114430	P61601	NCALD_HUMAN	neurocalcin delta	107	EF-hand 3.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding				0	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			AGGTCGTACATGCTGAAGGCC	0.473													C	102731539	T	C	102731539	3	2	88	1	0	0	0	0	1	0	0	0	10201	1464	51	3	274	3	NCALD	8	102731539	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	2582564	102731539	43632483	457	57879											
ODF1	4956	broad.mit.edu	37	chr8	103564043	103564043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcaactgagatgcatcgacGaatttagcacacggtgcctg	12	10	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:103564043G>A	uc003ykt.2	+	1	196	c.88G>A	c.(88-90)GAA>AAA	p.E30K		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	30					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			ovary(2)	2	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			ATGCATCGACGAATTTAGCAC	0.493													A	103564043	G	A	103564043	3	1	88	1	0	0	0	0	1	0	0	0	10826	1059	37	1	90	1	ODF1	8	103564043	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	832504	103564043	42799979	458	57880											
LRP12	29967	broad.mit.edu	37	chr8	105601048	105601048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggacgcggacacttaccGtacaccccagcgaggaaaag	13	13	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:105601048G>A	uc003yma.2	-	1	173	c.78C>T	c.(76-78)TAC>TAT	p.Y26Y	LRP12_uc003ymb.2_Silent_p.Y26Y|LRP12_uc003ymc.3_Silent_p.Y26Y	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	26					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GACACTTACCGTACACCCCAG	0.637													A	105601048	G	A	105601048	2	1	88	1	0	0	0	0	0	0	0	1	8954	1159	40	1		1	LRP12	8	105601048	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2037005	105601048	40762974	459	57881											
TMEM74	157753	broad.mit.edu	37	chr8	109796921	109796921	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcccagccaagctccccaGggtgattatgcccttttgct	8	14	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:109796921G>T	uc003ymy.1	-	2	512	c.407C>A	c.(406-408)CCT>CAT	p.P136H	TMEM74_uc003ymx.2_Intron	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	transmembrane protein 74	136					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			AAGCTCCCCAGGGTGATTATG	0.478													T	109796921	G	T	109796921	3	4	88	1	0	0	0	0	1	0	0	0	16199	1000	35	5	514	5	TMEM74	8	109796921	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	4195873	109796921	36567101	460	57882											
PKHD1L1	93035	broad.mit.edu	37	chr8	110439310	110439310	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgggaagaatctcagttacAcgagagggaacctgtgctgg	14	7	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:110439310A>G	uc003yne.2	+	25	3029	c.2925A>G	c.(2923-2925)ACA>ACG	p.T975T		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	975	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTCAGTTACACGAGAGGGAA	0.552										HNSCC(38;0.096)			G	110439310	A	G	110439310	2	3	88	1	0	0	0	0	0	0	0	1	11972	146	6	3		3	PKHD1L1	8	110439310	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	642389	110439310	35924712	461	57883											
PKHD1L1	93035	broad.mit.edu	37	chr8	110477120	110477120	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggctggaattgagactaagAggatcctggctccttatgtt	12	7	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:110477120A>C	uc003yne.2	+	49	8163	c.8059A>C	c.(8059-8061)AGG>CGG	p.R2687R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2687	Extracellular (Potential).|PbH1 3.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGAGACTAAGAGGATCCTGGC	0.458										HNSCC(38;0.096)			C	110477120	A	C	110477120	2	2	88	1	0	0	0	0	0	0	0	1	11972	295	11	5		5	PKHD1L1	8	110477120	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	37810	110477120	35886902	462	57884											
EXT1	2131	broad.mit.edu	37	chr8	118830694	118830694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgctctctccttcaatgaCgacgacaggcacagcagtgg	10	13	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:118830694C>T	uc003yok.1	-	7	2385	c.1612G>A	c.(1612-1614)GTC>ATC	p.V538I		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	538	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CCTTCAATGACGACGACAGGC	0.527			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				T	118830694	C	T	118830694	3	4	88	1	0	0	0	0	1	0	0	0	5323	536	19	1	648	1	EXT1	8	118830694	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	8353574	118830694	27533328	463	57885											
TRMT12	55039	broad.mit.edu	37	chr8	125464402	125464402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcttcagcaggtgcatGggaaaccatggaagacacaa	10	10	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:125464402G>A	uc003yra.3	+	1	1355	c.1234G>A	c.(1234-1236)GGG>AGG	p.G412R		NM_017956	NP_060426	Q53H54	TYW2_HUMAN	homolog of yeast tRNA methyltransferase 12	412					tRNA processing		methyltransferase activity			upper_aerodigestive_tract(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCAGGTGCATGGGAAACCATG	0.512													A	125464402	G	A	125464402	3	1	88	1	0	0	0	0	1	0	0	0	16561	1348	47	4	1236	4	TRMT12	8	125464402	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	6633708	125464402	20899620	464	57886											
ASAP1	50807	broad.mit.edu	37	chr8	131072825	131072825	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaacattgtcccacccacCgtattgatttttctgggcag	8	12	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:131072825C>T	uc003yta.1	-	27	3220	c.3192G>A	c.(3190-3192)ACG>ACA	p.T1064T	ASAP1_uc003ysz.1_Silent_p.T875T|ASAP1_uc011liw.1_Silent_p.T1057T	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	1064					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						TCCCACCCACCGTATTGATTT	0.527													T	131072825	C	T	131072825	2	4	88	1	0	0	0	0	0	0	0	1	1010	666	23	1		1	ASAP1	8	131072825	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	5608423	131072825	15291197	465	57887											
ST3GAL1	6482	broad.mit.edu	37	chr8	134472060	134472060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggccaaggtggccgtcaCgttagactcaaagtctgcat	13	10	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:134472060C>T	uc003yuk.2	-	10	1799	c.970G>A	c.(970-972)GTG>ATG	p.V324M	ST3GAL1_uc003yum.2_Missense_Mutation_p.V324M	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	324	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GTGGCCGTCACGTTAGACTCA	0.562													T	134472060	C	T	134472060	3	4	88	1	0	0	0	0	1	0	0	0	15213	536	19	1	56	1	ST3GAL1	8	134472060	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	3399235	134472060	11891962	466	57888											
ST3GAL1	6482	broad.mit.edu	37	chr8	134472082	134472082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagactcaaagtctgcatcGtgcacccccgtcttgcgaaa	8	13	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:134472082G>A	uc003yuk.2	-	10	1777	c.948C>T	c.(946-948)CAC>CAT	p.H316H	ST3GAL1_uc003yum.2_Silent_p.H316H	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	316	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			AGTCTGCATCGTGCACCCCCG	0.572													A	134472082	G	A	134472082	2	1	88	1	0	0	0	0	0	0	0	1	15213	1136	40	1		1	ST3GAL1	8	134472082	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	22	134472082	11891940	467	57889											
KHDRBS3	10656	broad.mit.edu	37	chr8	136657326	136657326	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgattactatgattacggAcatggactcagtgaggagac	12	7	1	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:136657326A>G	uc003yuv.2	+	8	1309	c.915A>G	c.(913-915)GGA>GGG	p.G305G	KHDRBS3_uc003yuw.2_3'UTR|KHDRBS3_uc010mek.2_RNA	NM_006558	NP_006549	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal	305	Tyr-rich.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(2)	2	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ATGATTACGGACATGGACTCA	0.423													G	136657326	A	G	136657326	2	3	88	1	0	0	0	0	0	0	0	1	8148	262	10	3		3	KHDRBS3	8	136657326	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	2185244	136657326	9706696	468	57890											
FAM135B	51059	broad.mit.edu	37	chr8	139164495	139164495	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagagaagcctggatgccGcttggcaaacttgtgttact	13	8	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:139164495G>A	uc003yuy.2	-	13	2394	c.2223C>T	c.(2221-2223)AGC>AGT	p.S741S	FAM135B_uc003yux.2_Silent_p.S642S|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.S303S|FAM135B_uc003yvb.2_Silent_p.S303S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	741										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCTGGATGCCGCTTGGCAAAC	0.527										HNSCC(54;0.14)			A	139164495	G	A	139164495	2	1	88	1	0	0	0	0	0	0	0	1	5449	1078	38	1		1	FAM135B	8	139164495	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2507169	139164495	7199527	469	57891											
SLC45A4	57210	broad.mit.edu	37	chr8	142228396	142228396	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcgcgacggcttgatcAgcaccacggcgttggcgcgc	15	14	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:142228396A>G	uc003ywd.1	-	4	1498	c.1190T>C	c.(1189-1191)CTG>CCG	p.L397P	SLC45A4_uc003ywc.1_Missense_Mutation_p.L397P|SLC45A4_uc010meq.1_Missense_Mutation_p.L395P	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	448					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGGCTTGATCAGCACCACGGC	0.692													G	142228396	A	G	142228396	3	3	88	1	0	0	0	0	1	0	0	0	14643	188	7	3	1226	3	SLC45A4	8	142228396	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	3063901	142228396	4135626	470	57892											
TSNARE1	203062	broad.mit.edu	37	chr8	143412317	143412317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctaaggactgaaggctccGctccaaggaggtcactgccc	11	15	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:143412317G>A	uc003ywk.2	-	6	956	c.838C>T	c.(838-840)CGG>TGG	p.R280W	TSNARE1_uc011lju.1_Missense_Mutation_p.R280W|TSNARE1_uc003ywj.2_Missense_Mutation_p.R280W|TSNARE1_uc003ywl.3_Missense_Mutation_p.R61W	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	280					vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGAAGGCTCCGCTCCAAGGAG	0.632													A	143412317	G	A	143412317	3	1	88	1	0	0	0	0	1	0	0	0	16627	1086	38	1	735	1	TSNARE1	8	143412317	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1183921	143412317	2951705	471	57893											
ZNF623	9831	broad.mit.edu	37	chr8	144732141	144732141	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgaaaactcacataggacGacgtcagacagactcacggt	10	10	3	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:144732141G>A	uc003yzd.2	+	1	188	c.99G>A	c.(97-99)ACG>ACA	p.T33T	ZNF623_uc011lkp.1_5'UTR|ZNF623_uc003yzc.2_5'UTR	NM_014789	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623 isoform 1	33					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CACATAGGACGACGTCAGACA	0.483													A	144732141	G	A	144732141	2	1	88	1	0	0	0	0	0	0	0	1	18044	1045	37	1		1	ZNF623	8	144732141	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1319824	144732141	1631881	472	57894											
EPPK1	83481	broad.mit.edu	37	chr8	144940477	144940477	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagagggagatctgctgcccGgtgtaggggtcggtgtagcc	18	8	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:144940477G>T	uc003zaa.1	-	2	14968	c.14955C>A	c.(14953-14955)ACC>ACA	p.T4985T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	4985	Plectin 63.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTGCTGCCCGGTGTAGGGGT	0.711													T	144940477	G	T	144940477	2	4	88	1	0	0	0	0	0	0	0	1	5190	1103	39	5		5	EPPK1	8	144940477	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	208336	144940477	1423545	473	57895											
EPPK1	83481	broad.mit.edu	37	chr8	144942153	144942153	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctttctttatgatttgtaGcaggtacaggcccgtctcgg	10	10	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:144942153G>A	uc003zaa.1	-	1	5282	c.5269C>T	c.(5269-5271)CTA>TTA	p.L1757L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1757						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGATTTGTAGCAGGTACAGG	0.542													A	144942153	G	A	144942153	2	1	88	1	0	0	0	0	0	0	0	1	5190	962	34	2		2	EPPK1	8	144942153	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1676	144942153	1421869	474	57896											
PLEC	5339	broad.mit.edu	37	chr8	144993942	144993942	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccactgccctgcagcagCgtccgcacggagcccagctc	11	19	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:144993942C>T	uc003zaf.1	-	32	10628	c.10458G>A	c.(10456-10458)ACG>ACA	p.T3486T	PLEC_uc003zab.1_Silent_p.T3349T|PLEC_uc003zac.1_Silent_p.T3353T|PLEC_uc003zad.2_Silent_p.T3349T|PLEC_uc003zae.1_Silent_p.T3317T|PLEC_uc003zag.1_Silent_p.T3327T|PLEC_uc003zah.2_Silent_p.T3335T|PLEC_uc003zaj.2_Silent_p.T3376T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3486	Plectin 12.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCTGCAGCAGCGTCCGCACGG	0.652													T	144993942	C	T	144993942	2	4	88	1	0	0	0	0	0	0	0	1	12052	755	27	1		1	PLEC	8	144993942	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	51789	144993942	1370080	475	57897											
PLEC	5339	broad.mit.edu	37	chr8	144994298	144994298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcttttcaaaggtctcacGggcctgcagctctgagtaga	12	10	4	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:144994298G>A	uc003zaf.1	-	32	10272	c.10102C>T	c.(10102-10104)CGT>TGT	p.R3368C	PLEC_uc003zab.1_Missense_Mutation_p.R3231C|PLEC_uc003zac.1_Missense_Mutation_p.R3235C|PLEC_uc003zad.2_Missense_Mutation_p.R3231C|PLEC_uc003zae.1_Missense_Mutation_p.R3199C|PLEC_uc003zag.1_Missense_Mutation_p.R3209C|PLEC_uc003zah.2_Missense_Mutation_p.R3217C|PLEC_uc003zaj.2_Missense_Mutation_p.R3258C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3368	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						AAGGTCTCACGGGCCTGCAGC	0.652													A	144994298	G	A	144994298	3	1	88	1	0	0	0	0	1	0	0	0	12052	1116	39	1	3956	1	PLEC	8	144994298	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	356	144994298	1369724	476	57898											
SLC39A4	55630	broad.mit.edu	37	chr8	145637935	145637935	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggtatcagaaggtgatgTcatcctcgtacagggacagc	13	9	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:145637935T>C	uc003zcq.2	-	12	2031	c.1931A>G	c.(1930-1932)GAC>GGC	p.D644G	SLC39A4_uc003zcm.1_3'UTR|SLC39A4_uc003zcn.2_Missense_Mutation_p.D146G|SLC39A4_uc003zco.2_Missense_Mutation_p.D368G|SLC39A4_uc003zcp.2_Missense_Mutation_p.D619G	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	644	Extracellular (Potential).					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GAAGGTGATGTCATCCTCGTA	0.602													C	145637935	T	C	145637935	3	2	88	1	0	0	0	0	1	0	0	0	14620	1667	58	3	16	3	SLC39A4	8	145637935	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	643637	145637935	726087	477	57899											
BNC2	54796	broad.mit.edu	37	chr9	16419583	16419583	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aagggagggctgcgacgagtCcaggcccatgtcatcgagtt	15	10	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:16419583C>A	uc003zml.2	-	7	2844	c.2704G>T	c.(2704-2706)GAC>TAC	p.D902Y	BNC2_uc011lmw.1_Missense_Mutation_p.D807Y|BNC2_uc003zmm.2_3'UTR|BNC2_uc011lmv.1_3'UTR|BNC2_uc003zmj.2_3'UTR|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.D689Y	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	902					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		TGCGACGAGTCCAGGCCCATG	0.532													A	16419583	C	A	16419583	3	1	88	1	0	0	0	0	1	0	0	0	1475	855	30	5	599	5	BNC2	9	16419583	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08		16419583	124793848	478	57900											
ACER2	340485	broad.mit.edu	37	chr9	19446317	19446317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttaagctgggcctcttctCgggcctctggtggaccctgg	14	12	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:19446317C>T	uc003zny.1	+	5	700	c.542C>T	c.(541-543)TCG>TTG	p.S181L	ACER2_uc003znx.1_RNA|ACER2_uc003znz.1_Missense_Mutation_p.S132L	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	181	Helical; (Potential).				ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						GGCCTCTTCTCGGGCCTCTGG	0.507													T	19446317	C	T	19446317	3	4	88	1	0	0	0	0	1	0	0	0	139	893	31	1	560	1	ACER2	9	19446317	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	3026734	19446317	121767114	479	57901											
PRSS3	5646	broad.mit.edu	37	chr9	33799074	33799074	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggacagctccaaggagttGtctcctggggccatggctgt	14	11	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:33799074G>T	uc003ztj.3	+	5	811	c.811G>T	c.(811-813)GTC>TTC	p.V271F	uc003ztk.1_Intron|PRSS3_uc003zti.3_Missense_Mutation_p.V228F|PRSS3_uc003ztl.3_Missense_Mutation_p.V214F	NM_007343	NP_031369	P35030	TRY3_HUMAN	mesotrypsin isoform 1 preproprotein	271	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity				0			LUSC - Lung squamous cell carcinoma(29;0.0176)			CCAAGGAGTTGTCTCCTGGGG	0.537													T	33799074	G	T	33799074	3	4	88	1	0	0	0	0	1	0	0	0	12622	1377	48	5	873	5	PRSS3	9	33799074	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	14352757	33799074	107414357	480	57902											
KIAA1161	57462	broad.mit.edu	37	chr9	34371332	34371332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgctgacggtgagcaccGcggggatgagtgagcgcaac	17	10	0	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:34371332G>A	uc003zue.3	-	3	1777	c.1610C>T	c.(1609-1611)GCG>GTG	p.A537V		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	537	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GGTGAGCACCGCGGGGATGAG	0.652													A	34371332	G	A	34371332	3	1	88	1	0	0	0	0	1	0	0	0	8211	1087	38	1	538	1	KIAA1161	9	34371332	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	572258	34371332	106842099	481	57903											
KIAA1045	23349	broad.mit.edu	37	chr9	34971465	34971465	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtccaggaggtacaggAggagaaggaagcagaagcag	16	8	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:34971465A>G	uc003zvq.2	+	2	348	c.170A>G	c.(169-171)GAG>GGG	p.E57G	KIAA1045_uc003zvr.2_Missense_Mutation_p.E57G	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	57							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)			GAGGTACAGGAGGAGAAGGAA	0.667													G	34971465	A	G	34971465	3	3	88	1	0	0	0	0	1	0	0	0	8207	304	11	3	172	3	KIAA1045	9	34971465	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	600133	34971465	106241966	482	57904											
FANCG	2189	broad.mit.edu	37	chr9	35079503	35079503	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcagctggagcccacagAggtggtctggcgggacatgg	18	10	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:35079503A>C	uc003zwb.1	-	1	511	c.19T>G	c.(19-21)TCT>GCT	p.S7A	FANCG_uc003zwa.1_5'Flank|FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Missense_Mutation_p.S7A	NM_004629	NP_004620	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	7					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|large_intestine(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GAGCCCACAGAGGTGGTCTGG	0.647			Mis|N|F|S			AML|leukemia		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				C	35079503	A	C	35079503	3	2	88	1	0	0	0	0	1	0	0	0	5668	304	11	5	1905	5	FANCG	9	35079503	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	108038	35079503	106133928	483	57905											
OR13J1	392309	broad.mit.edu	37	chr9	35869820	35869820	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggaagtcttcgctgacCgacgtgttgccgcatgccag	13	12	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:35869820C>T	uc011lph.1	-	1	579	c.579G>A	c.(577-579)TCG>TCA	p.S193S		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J,	193	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			CTTCGCTGACCGACGTGTTGC	0.597													T	35869820	C	T	35869820	2	4	88	1	0	0	0	0	0	0	0	1	10944	639	23	1		1	OR13J1	9	35869820	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	790317	35869820	105343611	484	57906											
RECK	8434	broad.mit.edu	37	chr9	36112461	36112462	+	Frame_Shift_Ins	INS	-	-	A													tgtaatcctaatccctgccaINSaaaaaaccaaaggtaagtca							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:36112460_36112461C>CA	uc003zyv.3	+	15	2133_2134	c.2047_2048C>CA	c.(2047-2049)caafs	p.Q683fs	RECK_uc003zyw.3_Frame_Shift_Ins_p.Q555fs|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	683						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TAATCCCTGCCAAAAAAACCAA	0.416													A	36112462	-	A	36112461	7	5	88	1	0	1	1	0	0	0	0	0	13200	130	5	0	2110	0	RECK	9	36112461	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	242641	36112461	105100970	485	57907											
RNF38	152006	broad.mit.edu	37	chr9	36342424	36342424	+	Splice_Site	DEL	A	A	-													cacatgcatactacacacctAaaaaaagcaaaaagatcatt							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:36342423_36342423TA>T	uc003zzh.3	-	11	1577	c.1386_splice	c.e11-1	p.L462_splice	RNF38_uc003zzi.3_Splice_Site_p.L412_splice|RNF38_uc003zzj.3_Splice_Site_p.L379_splice|RNF38_uc003zzk.3_Splice_Site_p.L379_splice|RNF38_uc003zzl.3_Splice_Site_p.L386_splice|RNF38_uc003zzm.3_Splice_Site_p.L379_splice	NM_022781	NP_919313	Q9H0F5	RNF38_HUMAN	Homo sapiens ring finger protein 38 (RNF38), transcript variant 1, mRNA.	462							zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			ACTACACACCTAAAAAAAGCA	0.358													-	36342424	A	-	36342424	8	5	88	1	0	1	0	1	0	0	1	0	13490	377	13	0		0	RNF38	9	36342424	Splice_Site	DEL	A	TCGA-BR-8382-01A-11D-2394-08	229963	36342424	104871007	486	57908											
CNTNAP3	79937	broad.mit.edu	37	chr9	39171366	39171366	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgggaatacaactgttacCtgctgtgacattccttggtg	10	8	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:39171366C>A	uc004abi.2	-	8	1572	c.1333G>T	c.(1333-1335)GGT>TGT	p.G445C	CNTNAP3_uc004abj.2_Missense_Mutation_p.G445C|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Missense_Mutation_p.G445C|CNTNAP3_uc011lqs.1_Missense_Mutation_p.G445C|CNTNAP3_uc004abl.1_Missense_Mutation_p.G357C	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	cell recognition molecule CASPR3 precursor	445	Extracellular (Potential).|Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAACTGTTACCTGCTGTGACA	0.483													A	39171366	C	A	39171366	3	1	88	1	0	0	0	0	1	0	0	0	3648	695	24	5	2601	5	CNTNAP3	9	39171366	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2828942	39171366	102042065	487	57909											
PGM5	5239	broad.mit.edu	37	chr9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattattggacagaatggcAtcttgtcgacacctgcggtc	11	9	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478													G	70993145	A	G	70993145	3	3	88	1	0	0	0	0	1	0	0	0	11801	217	8	3	298	3	PGM5	9	70993145	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	31821779	70993145	70220286	488	57910											
ALDH1A1	216	broad.mit.edu	37	chr9	75545879	75545879	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcatccatagtacgccaCggggatccaatctgaaaagc	10	11	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:75545879C>T	uc004ajd.2	-	3	281	c.228G>A	c.(226-228)CCG>CCA	p.P76P	ALDH1A1_uc011lsh.1_Translation_Start_Site	NM_000689	NP_000680	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1A1	76					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			ovary(3)|lung(1)	4					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TAGTACGCCACGGGGATCCAA	0.463													T	75545879	C	T	75545879	2	4	88	1	0	0	0	0	0	0	0	1	490	523	19	1		1	ALDH1A1	9	75545879	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	4552734	75545879	65667552	489	57911											
PCSK5	5125	broad.mit.edu	37	chr9	78686670	78686670	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgctggacggagatgtcacGgacatggttgaagcaaaatc	13	7	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:78686670G>T	uc004ajz.2	+	7	1288	c.750G>T	c.(748-750)ACG>ACT	p.T250T	PCSK5_uc004ajy.2_Silent_p.T250T|PCSK5_uc004aka.2_RNA	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	250	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3						GAGATGTCACGGACATGGTTG	0.527													T	78686670	G	T	78686670	2	4	88	1	0	0	0	0	0	0	0	1	11603	1103	39	5		5	PCSK5	9	78686670	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	3140791	78686670	62526761	490	57912											
UBQLN1	29979	broad.mit.edu	37	chr9	86292653	86292653	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagcatacctcctactccaGgcaccaaatttggcgcagta	7	13	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:86292653G>T	uc004amv.2	-	6	1668	c.1094C>A	c.(1093-1095)CCT>CAT	p.P365H	UBQLN1_uc004amw.2_Missense_Mutation_p.P365H	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	ubiquilin 1 isoform 1	365					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding				0						TCCTACTCCAGGCACCAAATT	0.443													T	86292653	G	T	86292653	3	4	88	1	0	0	0	0	1	0	0	0	16893	1000	35	5	699	5	UBQLN1	9	86292653	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	7605983	86292653	54920778	491	57913											
S1PR3	1903	broad.mit.edu	37	chr9	91616794	91616794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggtgaagtccagcagcCgtaaggtggccaaccacaac	11	13	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:91616794C>T	uc004aqe.2	+	2	1075	c.679C>T	c.(679-681)CGT>TGT	p.R227C		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	227	Cytoplasmic (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						GTCCAGCAGCCGTAAGGTGGC	0.567											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	91616794	C	T	91616794	3	4	88	1	0	0	0	0	1	0	0	0	13795	652	23	1	681	1	S1PR3	9	91616794	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	5324141	91616794	49596637	492	57914											
IARS	3376	broad.mit.edu	37	chr9	95043054	95043054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcacatattgcatttctGgattaacacacacagcaagg	6	9	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:95043054G>A	uc004art.1	-	7	976	c.719C>T	c.(718-720)CCA>CTA	p.P240L	IARS_uc004ars.1_Missense_Mutation_p.P85L|IARS_uc004aru.3_Missense_Mutation_p.P240L|IARS_uc010mqr.2_Missense_Mutation_p.P130L|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	240					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)	TTGCATTTCTGGATTAACACA	0.343													A	95043054	G	A	95043054	3	1	88	1	0	0	0	0	1	0	0	0	7473	1348	47	4	3181	4	IARS	9	95043054	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	3426260	95043054	46170377	493	57915											
GALNT12	79695	broad.mit.edu	37	chr9	101602364	101602364	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagtggttcttggagacTgtgtatccagaactgcatgt	11	7	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:101602364T>G	uc004ayz.2	+	7	1293	c.1293T>G	c.(1291-1293)ACT>ACG	p.T431T		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	N-acetylgalactosaminyltransferase 12	431	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(62;0.0559)				TCTTGGAGACTGTGTATCCAG	0.552													G	101602364	T	G	101602364	2	3	88	1	0	0	0	0	0	0	0	1	6210	1567	55	5		5	GALNT12	9	101602364	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	6559310	101602364	39611067	494	57916											
COL15A1	1306	broad.mit.edu	37	chr9	101810227	101810227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgtgggttccagggtcGcccaggactgaatggcctca	14	12	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:101810227G>A	uc004azb.1	+	28	2944	c.2738G>A	c.(2737-2739)CGC>CAC	p.R913H		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	913	Triple-helical region 5 (COL5).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				TTCCAGGGTCGCCCAGGACTG	0.602													A	101810227	G	A	101810227	3	1	88	1	0	0	0	0	1	0	0	0	3672	1087	38	1	2848	1	COL15A1	9	101810227	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	207863	101810227	39403204	495	57917											
INVS	27130	broad.mit.edu	37	chr9	103054983	103054983	+	Frame_Shift_Del	DEL	G	G	-													tagccgccctggcagtgcccGgggggaggcggtccatgctg							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:103054982_103054982CG>C	uc004bap.1	+	13	2655	c.2443_2443CG>C	c.(2443-2445)cggfs	p.R815fs	INVS_uc011lve.1_Frame_Shift_Del_p.R719fs|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Frame_Shift_Del_p.R719fs|INVS_uc010mtb.1_Frame_Shift_Del_p.R489fs	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	Homo sapiens inversin (INVS), transcript variant 1, mRNA.	815					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TGGCAGTGCCCGGGGGGAGGC	0.587													-	103054983	G	-	103054983	7	5	88	1	0	1	0	1	0	0	0	0	7787	1116	39	0	2494	0	INVS	9	103054983	Frame_Shift_Del	DEL	G	TCGA-BR-8382-01A-11D-2394-08	1244756	103054983	38158448	496	57918											
PPP3R2	5535	broad.mit.edu	37	chr9	104357179	104357179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtgggagcacatctccgCcgggtaactggcctcgtttc	12	12	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:104357179C>T	uc004bbr.2	-	1	105	c.34G>A	c.(34-36)GCG>ACG	p.A12T	GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_RNA	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	protein phosphatase 3 regulatory subunit B, beta	9							calcium ion binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	CACATCTCCGCCGGGTAACTG	0.577													T	104357179	C	T	104357179	3	4	88	1	0	0	0	0	1	0	0	0	12401	739	26	2	491	2	PPP3R2	9	104357179	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1302196	104357179	36856252	497	57919											
KLF4	9314	broad.mit.edu	37	chr9	110250239	110250239	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataggtgaagctgcaggtggAgggcgcgctggcagggccgc	20	9	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:110250239A>C	uc004bdh.2	-	3	1030	c.409T>G	c.(409-411)TCC>GCC	p.S137A	KLF4_uc004bdf.1_Missense_Mutation_p.S96A|KLF4_uc004bdg.2_Missense_Mutation_p.S146A	NM_004235	NP_004226	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	146	Ser-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(2)|lung(1)	3						CTGCAGGTGGAGGGCGCGCTG	0.726													C	110250239	A	C	110250239	3	2	88	1	0	0	0	0	1	0	0	0	8348	304	11	5	1015	5	KLF4	9	110250239	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	5893060	110250239	30963192	498	57920											
ACTL7B	10880	broad.mit.edu	37	chr9	111617074	111617074	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggaaccgccggtccacacGgaggtcttcctctcaggagc	12	14	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:111617074G>A	uc004bdi.2	-	1	1202	c.1137C>T	c.(1135-1137)TCC>TCT	p.S379S		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	379						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						CGGTCCACACGGAGGTCTTCC	0.652													A	111617074	G	A	111617074	2	1	88	1	0	0	0	0	0	0	0	1	201	1103	39	1		1	ACTL7B	9	111617074	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1366835	111617074	29596357	499	57921											
CTNNAL1	8727	broad.mit.edu	37	chr9	111705293	111705293	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttggactaagagagccatcAtggatcttgtcttcgtaata	10	7	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:111705293A>G	uc004bdo.1	-	18	2129	c.2087T>C	c.(2086-2088)ATG>ACG	p.M696T	CTNNAL1_uc010mts.1_Missense_Mutation_p.M348T|CTNNAL1_uc010mtt.1_Missense_Mutation_p.M658T|CTNNAL1_uc004bdp.1_Missense_Mutation_p.M696T|CTNNAL1_uc004bdq.1_Missense_Mutation_p.M182T	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	catenin, alpha-like 1	696					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			ovary(1)	1				STAD - Stomach adenocarcinoma(157;0.0768)		GAGAGCCATCATGGATCTTGT	0.313													G	111705293	A	G	111705293	3	3	88	1	0	0	0	0	1	0	0	0	4015	217	8	3	125	3	CTNNAL1	9	111705293	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	88219	111705293	29508138	500	57922											
CTNNAL1	8727	broad.mit.edu	37	chr9	111761499	111761499	+	Frame_Shift_Del	DEL	T	T	-													cttgcagagttttatcagacTttttggtattatctttatga							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:111761498_111761498CT>C	uc004bdo.1	-	1	222	c.180_180AG>G	c.(178-180)aagfs	p.K60fs	CTNNAL1_uc004bdp.1_Frame_Shift_Del_p.K60fs	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha-like 1 (CTNNAL1), mRNA.	60					Rho protein signal transduction|cell adhesion	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TTTTATCAGACTTTTTGGTAT	0.328													-	111761499	T	-	111761499	7	5	88	1	0	1	0	1	0	0	0	0	4015	1609	56	0	2097	0	CTNNAL1	9	111761499	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	56206	111761499	29451932	501	57923											
PTPN3	5774	broad.mit.edu	37	chr9	112199206	112199206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagaagtcgagggtccgcGctatgttgatatagcaggat	13	7	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:112199206G>A	uc004bed.2	-	9	744	c.632C>T	c.(631-633)GCG>GTG	p.A211V	PTPN3_uc004beb.2_Missense_Mutation_p.A80V|PTPN3_uc004bec.2_Missense_Mutation_p.A80V|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.A211V|PTPN3_uc011lwh.1_Missense_Mutation_p.A102V	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	211	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						GAGGGTCCGCGCTATGTTGAT	0.398													A	112199206	G	A	112199206	3	1	88	1	0	0	0	0	1	0	0	0	12789	1087	38	1	2181	1	PTPN3	9	112199206	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	437707	112199206	29014225	502	57924											
KIAA1958	158405	broad.mit.edu	37	chr9	115421571	115421571	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtgaagttgaacgagctgcTcgagaacttttatgtcaccg	11	8	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:115421571T>A	uc004bgf.1	+	4	1548	c.1373T>A	c.(1372-1374)CTC>CAC	p.L458H	KIAA1958_uc011lwx.1_Missense_Mutation_p.L486H	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	458										skin(1)	1						AACGAGCTGCTCGAGAACTTT	0.532													A	115421571	T	A	115421571	3	1	88	1	0	0	0	0	1	0	0	0	8264	1551	54	5	1383	5	KIAA1958	9	115421571	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	3222365	115421571	25791860	503	57925											
COL27A1	85301	broad.mit.edu	37	chr9	116945337	116945337	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggaaatccaggtctcccCggccctcctggagccaaagt	10	14	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:116945337C>T	uc011lxl.1	+	5	1998	c.1998C>T	c.(1996-1998)CCC>CCT	p.P666P	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Silent_p.P516P	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	666	Pro-rich.|Collagen-like 1.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						CAGGTCTCCCCGGCCCTCCTG	0.547													T	116945337	C	T	116945337	2	4	88	1	0	0	0	0	0	0	0	1	3685	639	23	1		1	COL27A1	9	116945337	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1523766	116945337	24268094	504	57926											
AKNA	80709	broad.mit.edu	37	chr9	117124787	117124787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcctcctctagggccgcGtgggcagccttcagccgctg	12	16	2	0	rs150191572	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:117124787G>A	uc004biq.3	-	7	1950	c.1815C>T	c.(1813-1815)CAC>CAT	p.H605H	AKNA_uc004bin.3_5'Flank|AKNA_uc004bio.3_Silent_p.H65H|AKNA_uc004bip.3_Silent_p.H524H|AKNA_uc004bir.3_Silent_p.H605H|AKNA_uc004bis.3_Silent_p.H605H|AKNA_uc010mve.2_Silent_p.H486H|AKNA_uc004biu.1_Silent_p.H346H|AKNA_uc004biv.1_Silent_p.H605H	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6						CTAGGGCCGCGTGGGCAGCCT	0.637													A	117124787	G	A	117124787	2	1	88	1	0	0	0	0	0	0	0	1	463	1136	40	1		1	AKNA	9	117124787	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	179450	117124787	24088644	505	57927											
TNC	3371	broad.mit.edu	37	chr9	117808794	117808794	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacctgttatgtccctggTacgttcgggggcaagtaggg	16	8	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:117808794T>C	uc004bjj.3	-	17	5382	c.5020A>G	c.(5020-5022)ACC>GCC	p.T1674A	TNC_uc010mvf.2_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1674	Fibronectin type-III 12.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						ATGTCCCTGGTACGTTCGGGG	0.458													C	117808794	T	C	117808794	3	2	88	1	0	0	0	0	1	0	0	0	16267	1638	57	3	1633	3	TNC	9	117808794	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	684007	117808794	23404637	506	57928											
ASTN2	23245	broad.mit.edu	37	chr9	119739005	119739005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctgtccccagtcactgcGcacacacaggtgtctgtgaa	9	14	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:119739005G>A	uc004bjs.1	-	8	1752	c.1651C>T	c.(1651-1653)CGC>TGC	p.R551C	ASTN2_uc004bjr.1_Missense_Mutation_p.R551C|ASTN2_uc004bjt.1_Missense_Mutation_p.R500C	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	551	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						CAGTCACTGCGCACACACAGG	0.507													A	119739005	G	A	119739005	3	1	88	1	0	0	0	0	1	0	0	0	1065	1087	38	1	2664	1	ASTN2	9	119739005	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1930211	119739005	21474426	507	57929											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123292371	123292371	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcctctttaaggcactgaAttaaagcttctttgctcttc	5	11	4	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:123292371A>G	uc004bkf.2	-	8	891	c.710T>C	c.(709-711)ATT>ACT	p.I237T	CDK5RAP2_uc004bkg.2_Missense_Mutation_p.I237T|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.I237T|CDK5RAP2_uc004bki.2_Missense_Mutation_p.I36T	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	237					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						AAGGCACTGAATTAAAGCTTC	0.398													G	123292371	A	G	123292371	3	3	88	1	0	0	0	0	1	0	0	0	3146	101	4	3	5095	3	CDK5RAP2	9	123292371	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	3553366	123292371	17921060	508	57930											
FAM125B	89853	broad.mit.edu	37	chr9	129157978	129157978	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcccccaaccttcccaggTgaggccttgtcggggtgtct	12	15	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:129157978T>C	uc004bqh.1	+	6	743	c.662_splice	c.e6+2	p.R221_splice	FAM125B_uc004bqg.1_Nonstop_Mutation_p.*222R|FAM125B_uc011lzy.1_Splice_Site_p.R206_splice|FAM125B_uc010mxd.2_Splice_Site_p.R214_splice|FAM125B_uc011lzz.1_Nonstop_Mutation_p.*215R	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	hypothetical protein LOC89853 isoform 1						protein transport	late endosome membrane					0						CCTTCCCAGGTGAGGCCTTGT	0.522													C	129157978	T	C	129157978	5	2	88	1	0	0	0	0	0	0	1	0	5428	1710	59	3	686	3	FAM125B	9	129157978	Splice_Site	SNP	T	TCGA-BR-8382-01A-11D-2394-08	5865607	129157978	12055453	509	57931											
SLC2A8	29988	broad.mit.edu	37	chr9	130165962	130165962	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcacctggccctgctgcgGcagcccggcatctacaagcc	10	17	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:130165962G>A	uc004bqu.2	+	6	792	c.747G>A	c.(745-747)CGG>CGA	p.R249R	SLC2A8_uc010mxj.2_Silent_p.R249R|SLC2A8_uc004bqv.2_5'Flank	NM_014580	NP_055395	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose	249	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						CCCTGCTGCGGCAGCCCGGCA	0.617													A	130165962	G	A	130165962	2	1	88	1	0	0	0	0	0	0	0	1	14551	1190	42	2		2	SLC2A8	9	130165962	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1007984	130165962	11047469	510	57932											
SLC25A25	114789	broad.mit.edu	37	chr9	130869723	130869723	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcgtgcagtcgcggtgAcggggggagggccgcccggc	22	12	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:130869723A>G	uc004bte.2	+	10	1439	c.1410A>G	c.(1408-1410)TGA>TGG	p.*470W	SLC25A25_uc004btb.2_Nonstop_Mutation_p.*504W|SLC25A25_uc004btc.2_Nonstop_Mutation_p.*490W|SLC25A25_uc004btd.2_Nonstop_Mutation_p.*502W|SLC25A25_uc004btf.2_Nonstop_Mutation_p.*367W	NM_052901	NP_443133	Q6KCM7	SCMC2_HUMAN	solute carrier family 25, member 25 isoform a	470					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding				0						AGTCGCGGTGACGGGGGGAGG	0.627													G	130869723	A	G	130869723	4	3	88	1	0	0	0	0	0	0	0	0	14488	288	10	3	1936	3	SLC25A25	9	130869723	Nonstop_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	703761	130869723	10343708	511	57933											
SLC27A4	10999	broad.mit.edu	37	chr9	131122642	131122642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttccagaagacagagctaCggaaggagggctttgacccg	14	9	0	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:131122642C>T	uc004but.2	+	13	2088	c.1804C>T	c.(1804-1806)CGG>TGG	p.R602W	SLC27A4_uc004buu.2_Missense_Mutation_p.R196W	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	602					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0						GACAGAGCTACGGAAGGAGGG	0.592													T	131122642	C	T	131122642	3	4	88	1	0	0	0	0	1	0	0	0	14528	527	19	1	1850	1	SLC27A4	9	131122642	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	252919	131122642	10090789	512	57934											
SET	6418	broad.mit.edu	37	chr9	131454979	131454979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagatgaagaggcactgCattatttgaccagagttgaa	12	5	0	6			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:131454979C>T	uc004bvt.3	+	4	593	c.352C>T	c.(352-354)CAT>TAT	p.H118Y	SET_uc004bvu.3_Missense_Mutation_p.H105Y|SET_uc010myg.2_RNA|SET_uc011mbj.1_Missense_Mutation_p.H94Y	NM_001122821	NP_001116293	Q01105	SET_HUMAN	SET translocation (myeloid leukemia-associated)	118					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity				0		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		AGAGGCACTGCATTATTTGAC	0.378			T	NUP214	AML								T	131454979	C	T	131454979	3	4	88	1	0	0	0	0	1	0	0	0	14128	710	25	2	443	2	SET	9	131454979	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	332337	131454979	9758452	513	57935											
LAMC3	10319	broad.mit.edu	37	chr9	133914404	133914404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctatcactgggacccgcGgatgccatgccagccctgtg	11	14	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:133914404G>A	uc004caa.1	+	5	1228	c.1130G>A	c.(1129-1131)CGG>CAG	p.R377Q		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	377	Laminin EGF-like 2.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGGGACCCGCGGATGCCATGC	0.647													A	133914404	G	A	133914404	3	1	88	1	0	0	0	0	1	0	0	0	8616	1116	39	1	1148	1	LAMC3	9	133914404	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2459425	133914404	7299027	514	57936											
TTF1	7270	broad.mit.edu	37	chr9	135271838	135271838	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgcctttgtaattgttgAcatcgaacatcttctttgct	6	10	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:135271838A>G	uc004cbl.2	-	5	1890	c.1838T>C	c.(1837-1839)GTC>GCC	p.V613A	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Missense_Mutation_p.V98A	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	613	Myb-like 1.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GTAATTGTTGACATCGAACAT	0.398													G	135271838	A	G	135271838	3	3	88	1	0	0	0	0	1	0	0	0	16715	275	10	3	907	3	TTF1	9	135271838	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	1357434	135271838	5941593	515	57937											
DDX31	64794	broad.mit.edu	37	chr9	135493777	135493777	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaatcttcaaataccgtctGcaagactgtggctcgctctc	8	12	4	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:135493777G>A	uc004cbq.1	-	18	2232	c.2080C>T	c.(2080-2082)CAG>TAG	p.Q694*	DDX31_uc010mzu.1_Intron	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	694						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		AATACCGTCTGCAAGACTGTG	0.532													A	135493777	G	A	135493777	4	1	88	1	0	0	0	0	0	1	0	0	4356	1328	46	2	487	2	DDX31	9	135493777	Nonsense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	221939	135493777	5719654	516	57938											
ABCA2	20	broad.mit.edu	37	chr9	139903448	139903448	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggttgaagaaccgcaccacGtccttcacactctggctgct	9	15	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:139903448G>A	uc011mem.1	-	45	7030	c.6882C>T	c.(6880-6882)GAC>GAT	p.D2294D	ABCA2_uc011mel.1_Silent_p.D2295D|ABCA2_uc004ckl.1_Silent_p.D2225D|ABCA2_uc004ckm.1_Silent_p.D2325D	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	2294					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACCGCACCACGTCCTTCACAC	0.682													A	139903448	G	A	139903448	2	1	88	1	0	0	0	0	0	0	0	1	32	1136	40	1		1	ABCA2	9	139903448	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	4409671	139903448	1309983	517	57939											
TPRN	286262	broad.mit.edu	37	chr9	140087050	140087050	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctcctcctcctcctcctcctCctgctggtccacctcttcct	3	23	1	0	rs77086130		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:140087050C>G	uc004clt.2	-	2	1636	c.1636G>C	c.(1636-1638)GAG>CAG	p.E546Q	TPRN_uc004clu.2_Missense_Mutation_p.E546Q	NM_173691	NP_775962	Q4KMQ1	TPRN_HUMAN	hypothetical protein LOC286262 isoform 2	607	Glu-rich.				sensory perception of sound	stereocilium					0						tcctcctcctcctgctggtcc	0.353													G	140087050	C	G	140087050	3	3	88	1	0	0	0	0	1	0	0	0	16418	864	30	5	408	5	TPRN	9	140087050	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	183602	140087050	1126381	518	57940											
TPRN	286262	broad.mit.edu	37	chr9	140093702	140093702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagctctgccacgcaccCgggcctggcagggtgcagag	15	14	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:140093702C>T	uc004clt.2	-	1	1279	c.1279G>A	c.(1279-1281)GGG>AGG	p.G427R	TPRN_uc004clu.2_Missense_Mutation_p.G427R	NM_173691	NP_775962	Q4KMQ1	TPRN_HUMAN	hypothetical protein LOC286262 isoform 2	488					sensory perception of sound	stereocilium					0						GCCACGCACCCGGGCCTGGCA	0.642													T	140093702	C	T	140093702	3	4	88	1	0	0	0	0	1	0	0	0	16418	652	23	1	769	1	TPRN	9	140093702	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	6652	140093702	1119729	519	57941											
EHMT1	79813	broad.mit.edu	37	chr9	140669655	140669655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgaagaccaccggggccGcatggtgaagcaccagtgct	15	11	0	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:140669655G>A	uc011mfc.1	+	11	1779	c.1742G>A	c.(1741-1743)CGC>CAC	p.R581H	EHMT1_uc004coa.2_Missense_Mutation_p.R581H|EHMT1_uc004cob.1_Missense_Mutation_p.R550H	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	581					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CACCGGGGCCGCATGGTGAAG	0.622													A	140669655	G	A	140669655	3	1	88	1	0	0	0	0	1	0	0	0	4983	1087	38	1	1784	1	EHMT1	9	140669655	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	575953	140669655	543776	520	57942											
RBM17	84991	broad.mit.edu	37	chr10	6146944	6146944	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagttctgattcccttagcTgacgaatatgaccctatgtt	8	9	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:6146944T>G	uc001ijb.2	+	4	517	c.291T>G	c.(289-291)GCT>GCG	p.A97A	RBM17_uc010qav.1_Silent_p.A97A	NM_032905	NP_116294	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	97					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding				0						TTCCCTTAGCTGACGAATATG	0.438													G	6146944	T	G	6146944	2	3	88	1	0	0	0	0	0	0	0	1	13119	1567	55	5		5	RBM17	10	6146944	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08		6146944	129387803	521	57943											
GATA3	2625	broad.mit.edu	37	chr10	8100425	8100425	+	Frame_Shift_Del	DEL	C	C	-													ccggggcccctctccgtctaCcccccggcctcgtcctcctc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:8100424_8100424AC>A	uc001ijz.3	+	2	955	c.398_398AC>A	c.(397-399)tacfs	p.Y133fs	GATA3_uc001ika.3_Frame_Shift_Del_p.Y133fs	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	133					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CTCTCCGTCTACCCCCCGGCC	0.716			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						-	8100425	C	-	8100425	7	5	88	1	0	1	0	1	0	0	0	0	6255	518	18	0	405	0	GATA3	10	8100425	Frame_Shift_Del	DEL	C	TCGA-BR-8382-01A-11D-2394-08	1953481	8100425	127434322	522	57944											
CUBN	8029	broad.mit.edu	37	chr10	17126369	17126369	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcttcatcatatagacGcattgcctggtgtgagtgaa	12	8	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:17126369G>A	uc001ioo.2	-	17	2254	c.2202C>T	c.(2200-2202)TGC>TGT	p.C734C		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	734	CUB 3.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCATATAGACGCATTGCCTGG	0.502													A	17126369	G	A	17126369	2	1	88	1	0	0	0	0	0	0	0	1	4051	1079	38	1		1	CUBN	10	17126369	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	9025944	17126369	118408378	523	57945											
PDSS1	23590	broad.mit.edu	37	chr10	27024408	27024408	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgccagctaatagatgatgTattggacttcacctcgtgtt	9	8	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:27024408T>C	uc001isv.2	+	10	972	c.926T>C	c.(925-927)GTA>GCA	p.V309A	PDSS1_uc001isw.2_Intron|PDSS1_uc010qdf.1_Missense_Mutation_p.V47A	NM_014317	NP_055132	Q5T2R2	DPS1_HUMAN	prenyl diphosphate synthase, subunit 1	309					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity				0						ATAGATGATGTATTGGACTTC	0.483													C	27024408	T	C	27024408	3	2	88	1	0	0	0	0	1	0	0	0	11693	1638	57	3	964	3	PDSS1	10	27024408	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	9898039	27024408	108510339	524	57946											
ZEB1	6935	broad.mit.edu	37	chr10	31608218	31608218	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcgaacccgcggcgcaatAacggtgagtggcggagggga	19	9	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:31608218A>G	uc001ivs.3	+	1	118	c.55A>G	c.(55-57)AAC>GAC	p.N19D	ZEB1_uc001ivr.3_Intron|ZEB1_uc010qee.1_Intron|ZEB1_uc010qef.1_Intron|ZEB1_uc009xlh.1_RNA|ZEB1_uc009xli.1_RNA|ZEB1_uc009xlj.1_Missense_Mutation_p.N19D|ZEB1_uc010qeg.1_Missense_Mutation_p.N19D|ZEB1_uc009xlk.1_Translation_Start_Site|ZEB1_uc001ivt.3_Translation_Start_Site|ZEB1_uc001ivu.3_Missense_Mutation_p.N19D|ZEB1_uc001ivv.3_Missense_Mutation_p.N19D|ZEB1_uc010qeh.1_Missense_Mutation_p.N19D|ZEB1_uc009xll.2_5'Flank|ZEB1_uc009xlm.1_5'Flank|ZEB1_uc009xln.1_5'Flank|ZEB1_uc009xlo.1_5'Flank|ZEB1_uc009xlp.2_5'Flank|LOC220930_uc010qed.1_5'Flank	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	19					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				GCGGCGCAATAACGGTGAGTg	0.279													G	31608218	A	G	31608218	3	3	88	1	0	0	0	0	1	0	0	0	17620	362	13	3	57	3	ZEB1	10	31608218	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	4583810	31608218	103926529	525	57947											
KIF5B	3799	broad.mit.edu	37	chr10	32324901	32324901	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcttcatccagcacagcacCttcagctccagttttactaa	5	14	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:32324901C>A	uc001iwe.3	-	9	1203	c.733G>T	c.(733-735)GGT>TGT	p.G245C		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	245	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)				AGCACAGCACCTTCAGCTCCA	0.323													A	32324901	C	A	32324901	3	1	88	1	0	0	0	0	1	0	0	0	8306	681	24	5	2226	5	KIF5B	10	32324901	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	716683	32324901	103209846	526	57948											
ITGB1	3688	broad.mit.edu	37	chr10	33214866	33214866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccaaatttccagatatgCgctgttttccaacaagttca	5	10	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:33214866C>T	uc001iws.3	-	6	855	c.719G>A	c.(718-720)CGC>CAC	p.R240H	ITGB1_uc001iwp.3_Missense_Mutation_p.R240H|ITGB1_uc001iwq.3_Missense_Mutation_p.R240H|ITGB1_uc001iwr.3_Missense_Mutation_p.R240H|ITGB1_uc001iwt.3_Missense_Mutation_p.R240H|ITGB1_uc001iwu.1_Missense_Mutation_p.R240H	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	240	Extracellular (Potential).|VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TCCAGATATGCGCTGTTTTCC	0.408													T	33214866	C	T	33214866	3	4	88	1	0	0	0	0	1	0	0	0	7890	768	27	1	1959	1	ITGB1	10	33214866	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	889965	33214866	102319881	527	57949											
CCNY	219771	broad.mit.edu	37	chr10	35855055	35855055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcgttctctggcagaagCgaacaacctgagctttccct	8	13	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:35855055C>T	uc001iyw.3	+	9	1031	c.851C>T	c.(850-852)GCG>GTG	p.A284V	CCNY_uc001iyu.3_Missense_Mutation_p.A230V|CCNY_uc001iyv.3_Missense_Mutation_p.A230V|CCNY_uc001iyx.3_Missense_Mutation_p.A230V|CCNY_uc009xmb.2_Missense_Mutation_p.A259V|CCNY_uc010qet.1_Missense_Mutation_p.A151V	NM_145012	NP_659449	Q8ND76	CCNY_HUMAN	cyclin Y isoform 1	284					cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding				0						CTGGCAGAAGCGAACAACCTG	0.473													T	35855055	C	T	35855055	3	4	88	1	0	0	0	0	1	0	0	0	2936	768	27	1	885	1	CCNY	10	35855055	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2640189	35855055	99679692	528	57950											
ZNF33B	7582	broad.mit.edu	37	chr10	43089480	43089480	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcctgaaattattcccActttcaccacaatcatagtg	3	13	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:43089480A>G	uc001jaf.1	-	5	1033	c.918T>C	c.(916-918)AGT>AGC	p.S306S	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.S194S|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	306						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AATTATTCCCACTTTCACCAC	0.393													G	43089480	A	G	43089480	2	3	88	1	0	0	0	0	0	0	0	1	17852	156	6	3		3	ZNF33B	10	43089480	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	7234425	43089480	92445267	529	57951											
HNRNPF	3185	broad.mit.edu	37	chr10	43882176	43882176	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccactgtaagtggccTgggcagcagacacccccatg	12	15	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:43882176T>G	uc009xmh.1	-	3	1644	c.1157A>C	c.(1156-1158)CAG>CCG	p.Q386P	HNRNPF_uc001jar.2_Missense_Mutation_p.Q386P|HNRNPF_uc001jas.2_Missense_Mutation_p.Q386P|HNRNPF_uc001jat.2_Missense_Mutation_p.Q386P|HNRNPF_uc001jav.2_Missense_Mutation_p.Q386P|HNRNPF_uc001jau.2_Missense_Mutation_p.Q386P|uc010qfa.1_5'UTR	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	386					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding				0						GTAAGTGGCCTGGGCAGCAGA	0.547													G	43882176	T	G	43882176	3	3	88	1	0	0	0	0	1	0	0	0	7265	1580	55	5	94	5	HNRNPF	10	43882176	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	792696	43882176	91652571	530	57952											
GPRIN2	9721	broad.mit.edu	37	chr10	47000005	47000005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtccagcctggaggaggtGccgtcccctgtgcgggatgt	18	11	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:47000005G>A	uc001jec.2	+	3	1260	c.1125G>A	c.(1123-1125)GTG>GTA	p.V375V	GPRIN2_uc010qfq.1_Silent_p.V138V	NM_014696	NP_055511	O60269	GRIN2_HUMAN	G protein-regulated inducer of neurite outgrowth	375											0						TGGAGGAGGTGCCGTCCCCTG	0.657													A	47000005	G	A	47000005	2	1	88	1	0	0	0	0	0	0	0	1	6730	1306	46	2		2	GPRIN2	10	47000005	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	3117829	47000005	88534742	531	57953											
PPYR1	5540	broad.mit.edu	37	chr10	47087826	47087826	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcgcccccctggaggAgtcggagcatctgcccctgt	14	15	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:47087826A>G	uc001jee.2	+	3	1462	c.1043A>G	c.(1042-1044)GAG>GGG	p.E348G	ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Missense_Mutation_p.E348G	NM_005972	NP_005963	P50391	NPY4R_HUMAN	pancreatic polypeptide receptor 1	348	Cytoplasmic (Potential).				blood circulation|digestion|feeding behavior	integral to plasma membrane				ovary(1)|skin(1)	2						CCCCTGGAGGAGTCGGAGCAT	0.547													G	47087826	A	G	47087826	3	3	88	1	0	0	0	0	1	0	0	0	12416	304	11	3	1045	3	PPYR1	10	47087826	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	87821	47087826	88446921	532	57954											
RBP3	5949	broad.mit.edu	37	chr10	48382208	48382208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcctccgcggtgccggcCgtcacactgctggtcagaat	11	15	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:48382208C>T	uc001jez.2	-	4	3555	c.3441G>A	c.(3439-3441)ACG>ACA	p.T1147T		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	1147	4 X approximate tandem repeats.|4.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	CGGTGCCGGCCGTCACACTGC	0.607													T	48382208	C	T	48382208	2	4	88	1	0	0	0	0	0	0	0	1	13157	639	23	1		1	RBP3	10	48382208	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1294382	48382208	87152539	533	57955											
SLC18A3	6572	broad.mit.edu	37	chr10	50819083	50819083	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacacggccaacacctcggcGtccccgacagctgcgtggcc	11	18	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:50819083G>A	uc001jhw.2	+	1	737	c.297G>A	c.(295-297)GCG>GCA	p.A99A	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	99	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						ACACCTCGGCGTCCCCGACAG	0.706													A	50819083	G	A	50819083	2	1	88	1	0	0	0	0	0	0	0	1	14427	1132	40	1		1	SLC18A3	10	50819083	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2436875	50819083	84715664	534	57956											
BICC1	80114	broad.mit.edu	37	chr10	60573605	60573605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagggctcatccatgtccCtttcacggtccaacagtcgt	8	14	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:60573605C>T	uc001jki.1	+	18	2392	c.2392C>T	c.(2392-2394)CTT>TTT	p.L798F	BICC1_uc001jkj.1_Missense_Mutation_p.L439F	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	798					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						ATCCATGTCCCTTTCACGGTC	0.458													T	60573605	C	T	60573605	3	4	88	1	0	0	0	0	1	0	0	0	1427	681	24	4	2462	4	BICC1	10	60573605	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	9754522	60573605	74961142	535	57957											
CTNNA3	29119	broad.mit.edu	37	chr10	68280472	68280472	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacgcttgtacatttccatGgtgtttttgaccgcttgact	9	9	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:68280472G>A	uc009xpn.1	-	11	1557	c.1434C>T	c.(1432-1434)ACC>ACT	p.T478T	CTNNA3_uc001jmw.2_Silent_p.T478T|CTNNA3_uc001jmx.3_Silent_p.T478T	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	478					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						ACATTTCCATGGTGTTTTTGA	0.338													A	68280472	G	A	68280472	2	1	88	1	0	0	0	0	0	0	0	1	4014	1335	47	4		4	CTNNA3	10	68280472	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	7706867	68280472	67254275	536	57958											
CCAR1	55749	broad.mit.edu	37	chr10	70509303	70509303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagagagagagagaaagaCgtagatcgagagaaagatca	15	3	1	8			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:70509303C>T	uc001joo.2	+	10	1098	c.979C>T	c.(979-981)CGT>TGT	p.R327C	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Missense_Mutation_p.R132C|CCAR1_uc009xpx.1_Missense_Mutation_p.R301C|CCAR1_uc001jon.1_Missense_Mutation_p.R273C|CCAR1_uc010qiz.1_Missense_Mutation_p.R312C|CCAR1_uc010qja.1_Missense_Mutation_p.R312C|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	327	Arg-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7						GAGAGAAAGACGTAGATCGAG	0.413													T	70509303	C	T	70509303	3	4	88	1	0	0	0	0	1	0	0	0	2730	536	19	1	1013	1	CCAR1	10	70509303	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2228831	70509303	65025444	537	57959											
SRGN	5552	broad.mit.edu	37	chr10	70863692	70863692	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggactactctggatcaggctTcggctccggctccggctctg	13	14	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:70863692T>C	uc001joz.2	+	3	379	c.293T>C	c.(292-294)TTC>TCC	p.F98S		NM_002727	NP_002718	P10124	SRGN_HUMAN	serglycin precursor	98	3.|9 X 2 AA tandem repeats of [SF]-G.				apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage	extracellular space|mast cell granule|platelet alpha granule lumen					0						GGATCAGGCTTCGGCTCCGGC	0.468													C	70863692	T	C	70863692	3	2	88	1	0	0	0	0	1	0	0	0	15147	1783	62	3	303	3	SRGN	10	70863692	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	354389	70863692	64671055	538	57960											
CHST3	9469	broad.mit.edu	37	chr10	73767393	73767393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcctgtgcgacctgtacGtgctggagcacttcatcacg	10	13	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:73767393G>A	uc001jsn.2	+	3	1044	c.604G>A	c.(604-606)GTG>ATG	p.V202M		NM_004273	NP_004264	Q7LGC8	CHST3_HUMAN	chondroitin 6-sulfotransferase 3	202	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity				0						CGACCTGTACGTGCTGGAGCA	0.682													A	73767393	G	A	73767393	3	1	88	1	0	0	0	0	1	0	0	0	3405	1145	40	1	610	1	CHST3	10	73767393	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2903701	73767393	61767354	539	57961											
SPOCK2	9806	broad.mit.edu	37	chr10	73826724	73826724	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatccttgtaggtgtcacaGgagttgaagaagggacggat	14	7	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:73826724G>T	uc001jso.1	-	8	1309	c.864C>A	c.(862-864)TCC>TCA	p.S288S	SPOCK2_uc001jsp.2_Silent_p.S288S	NM_014767	NP_055582	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	288					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding				0						AGGTGTCACAGGAGTTGAAGA	0.612													T	73826724	G	T	73826724	2	4	88	1	0	0	0	0	0	0	0	1	15079	987	35	5		5	SPOCK2	10	73826724	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	59331	73826724	61708023	540	57962											
DNAJB12	54788	broad.mit.edu	37	chr10	74100601	74100601	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtaggtatagcgcatgcgGccgttgctgtagacgtggac	16	8	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:74100601G>A	uc010qjv.1	-	5	921	c.771C>T	c.(769-771)GGC>GGT	p.G257G	DNAJB12_uc001jsz.2_Silent_p.G257G|DNAJB12_uc001jta.2_Silent_p.G257G	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	223					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding				0						AGCGCATGCGGCCGTTGCTGT	0.622													A	74100601	G	A	74100601	2	1	88	1	0	0	0	0	0	0	0	1	4617	1190	42	2		2	DNAJB12	10	74100601	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	273877	74100601	61434146	541	57963											
CAMK2G	818	broad.mit.edu	37	chr10	75606993	75606993	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacacttacacagacccacGggtgcttgagagcctggtca	11	12	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:75606993G>T	uc001jvv.1	-	10	909	c.785C>A	c.(784-786)CCG>CAG	p.P262Q	CAMK2G_uc001jvm.1_Missense_Mutation_p.P270Q|CAMK2G_uc001jvo.1_Missense_Mutation_p.P270Q|CAMK2G_uc001jvq.1_Missense_Mutation_p.P270Q|CAMK2G_uc001jvr.1_Missense_Mutation_p.P270Q|CAMK2G_uc001jvp.1_Missense_Mutation_p.P270Q|CAMK2G_uc001jvs.1_Missense_Mutation_p.P270Q|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Missense_Mutation_p.P248Q|CAMK2G_uc010qkv.1_Intron	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	270	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)					ACAGACCCACGGGTGCTTGAG	0.557													T	75606993	G	T	75606993	3	4	88	1	0	0	0	0	1	0	0	0	2602	1116	39	5	1009	5	CAMK2G	10	75606993	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1506392	75606993	59927754	542	57964											
DLG5	9231	broad.mit.edu	37	chr10	79601948	79601948	+	Frame_Shift_Del	DEL	A	A	-													agctcatggtggatcgcctcAaacctggcaagagaggtggc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:79601947_79601947CA>C	uc001jzk.3	-	6	1199	c.1129_1129TG>G	c.(1129-1131)gagfs	p.E377fs	DLG5_uc001jzj.3_Frame_Shift_Del_p.E132fs|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_5'UTR	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	377					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGGATCGCCTCAAACCTGGCA	0.647													-	79601948	A	-	79601948	7	5	88	1	0	1	0	1	0	0	0	0	4558	127	5	0	4735	0	DLG5	10	79601948	Frame_Shift_Del	DEL	A	TCGA-BR-8382-01A-11D-2394-08	3994955	79601948	55932799	543	57965											
SH2D4B	387694	broad.mit.edu	37	chr10	82331221	82331221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagatcaccaagaagttcCgggatgctctggccaatgag	12	10	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:82331221C>T	uc001kck.1	+	3	812	c.382C>T	c.(382-384)CGG>TGG	p.R128W	SH2D4B_uc001kcl.1_Missense_Mutation_p.R79W	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B isoform 1	127	Glu-rich.										0			Colorectal(32;0.229)			CAAGAAGTTCCGGGATGCTCT	0.512													T	82331221	C	T	82331221	3	4	88	1	0	0	0	0	1	0	0	0	14236	643	23	1	433	1	SH2D4B	10	82331221	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2729273	82331221	53203526	544	57966											
ANKRD22	118932	broad.mit.edu	37	chr10	90591666	90591666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatgccctcgcctgcaagCacagatcaggggcgtgtctc	11	15	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:90591666C>T	uc001kfj.3	-	2	507	c.139G>A	c.(139-141)GCT>ACT	p.A47T		NM_144590	NP_653191	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	47	ANK 1.										0		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		CGCCTGCAAGCACAGATCAGG	0.468													T	90591666	C	T	90591666	3	4	88	1	0	0	0	0	1	0	0	0	651	710	25	2	456	2	ANKRD22	10	90591666	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	8260445	90591666	44943081	545	57967											
IFIT5	24138	broad.mit.edu	37	chr10	91178104	91178104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagatccattaccactatgGccgctttcaggaatttcacc	6	13	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:91178104G>A	uc010qnh.1	+	2	1379	c.1148G>A	c.(1147-1149)GGC>GAC	p.G383D	IFIT5_uc010qng.1_Missense_Mutation_p.G335D	NM_012420	NP_036552	Q13325	IFIT5_HUMAN	interferon-induced protein with	383	TPR 7.						binding				0						TACCACTATGGCCGCTTTCAG	0.438													A	91178104	G	A	91178104	3	1	88	1	0	0	0	0	1	0	0	0	7525	1203	42	2	1154	2	IFIT5	10	91178104	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	586438	91178104	44356643	546	57968											
BTAF1	9044	broad.mit.edu	37	chr10	93756247	93756247	+	Frame_Shift_Del	DEL	T	T	-													taccatggaaacaatgaataTttttttggagaaggttcttc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:93756246_93756246AT>A	uc001khr.3	+	23	3528	c.3430_3430AT>A	c.(3430-3432)attfs	p.I1144fs	BTAF1_uc001kht.1_Frame_Shift_Del_p.I582fs	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1144					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AACAATGAATATTTTTTTGGA	0.433													-	93756247	T	-	93756247	7	5	88	1	0	1	0	1	0	0	0	0	1536	1493	52	0	3525	0	BTAF1	10	93756247	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	2578143	93756247	41778500	547	57969											
MYOF	26509	broad.mit.edu	37	chr10	95119596	95119596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcttctcttacccttgcGgtgcttgaagcagtctgtgt	10	11	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:95119596G>A	uc001kin.2	-	29	3237	c.3114C>T	c.(3112-3114)ACC>ACT	p.T1038T	MYOF_uc001kio.2_Silent_p.T1025T|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1038	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						TTACCCTTGCGGTGCTTGAAG	0.498													A	95119596	G	A	95119596	2	1	88	1	0	0	0	0	0	0	0	1	10089	1103	39	1		1	MYOF	10	95119596	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1363349	95119596	40415151	548	57970											
PIK3AP1	118788	broad.mit.edu	37	chr10	98469337	98469337	+	Frame_Shift_Del	DEL	T	T	-													tccttaccttcggaaatggcTtttttcacagctgccacgta							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:98469336_98469336CT>C	uc001kmq.3	-	1	546	c.418_418AG>G	c.(418-420)gccfs	p.A140fs		NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	140						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCGGAAATGGCTTTTTTCACA	0.478													-	98469337	T	-	98469337	7	5	88	1	0	1	0	1	0	0	0	0	11908	1606	56	0	2064	0	PIK3AP1	10	98469337	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	3349741	98469337	37065410	549	57971											
C10orf12	26148	broad.mit.edu	37	chr10	98744071	98744071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccctaattctgaagacaGcatagaggaagtcaaggaag	12	8	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:98744071G>A	uc001kmv.2	+	1	3031	c.2924G>A	c.(2923-2925)AGC>AAC	p.S975N		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	975										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TCTGAAGACAGCATAGAGGAA	0.478													A	98744071	G	A	98744071	3	1	88	1	0	0	0	0	1	0	0	0	1589	971	34	2	2926	2	C10orf12	10	98744071	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	274734	98744071	36790676	550	57972											
SLIT1	6585	broad.mit.edu	37	chr10	98766411	98766411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacagttggccccattctgGcactcagtcccctcacaggg	9	16	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:98766411G>A	uc001kmw.2	-	32	3660	c.3408C>T	c.(3406-3408)TGC>TGT	p.C1136C		NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	1136	EGF-like 6.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CCCCATTCTGGCACTCAGTCC	0.597													A	98766411	G	A	98766411	2	1	88	1	0	0	0	0	0	0	0	1	14739	1195	42	2		2	SLIT1	10	98766411	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	22340	98766411	36768336	551	57973											
SEMA4G	57715	broad.mit.edu	37	chr10	102732747	102732747	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccctcactgcggagaccGtctagagaactagatgccac	11	13	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:102732747G>A	uc010qpt.1	+	2	521	c.78G>A	c.(76-78)CCG>CCA	p.P26P	SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krw.1_Silent_p.P26P|SEMA4G_uc001krx.2_Silent_p.P26P|MIR608_hsa-mir-608|MI0003621_5'Flank	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	semaphorin 4G	26	Extracellular (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TGCGGAGACCGTCTAGAGAAC	0.607													A	102732747	G	A	102732747	2	1	88	1	0	0	0	0	0	0	0	1	14036	1132	40	1		1	SEMA4G	10	102732747	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	3966336	102732747	32802000	552	57974											
SORCS3	22986	broad.mit.edu	37	chr10	106401696	106401696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaagccatggtgcactggtCgggacacaacagcagcgtga	13	12	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:106401696C>T	uc001kyi.1	+	1	838	c.611C>T	c.(610-612)TCG>TTG	p.S204L		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	204	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGCACTGGTCGGGACACAAC	0.697													T	106401696	C	T	106401696	3	4	88	1	0	0	0	0	1	0	0	0	14932	893	31	1	613	1	SORCS3	10	106401696	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	3668949	106401696	29133051	553	57975											
DUSP5	1847	broad.mit.edu	37	chr10	112257938	112257938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgctccgcaaggaggcggCggcgcgctgcgtggtgctcg	19	12	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:112257938C>T	uc001kzd.2	+	1	314	c.59C>T	c.(58-60)GCG>GTG	p.A20V		NM_004419	NP_004410	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	20	Rhodanese.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		AAGGAGGCGGCGGCGCGCTGC	0.522													T	112257938	C	T	112257938	3	4	88	1	0	0	0	0	1	0	0	0	4828	768	27	1	61	1	DUSP5	10	112257938	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	5856242	112257938	23276809	554	57976											
ADRB1	153	broad.mit.edu	37	chr10	115804478	115804478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccttcctgcccatcctcaTgcactggtggcgggcggaga	13	14	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:115804478T>C	uc001lba.2	+	1	673	c.587T>C	c.(586-588)ATG>ACG	p.M196T		NM_000684	NP_000675	P08588	ADRB1_HUMAN	beta-1-adrenergic receptor	196	Helical; Name=4; (By similarity).				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	CCCATCCTCATGCACTGGTGG	0.602													C	115804478	T	C	115804478	3	2	88	1	0	0	0	0	1	0	0	0	340	1464	51	3	589	3	ADRB1	10	115804478	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	3546540	115804478	19730269	555	57977											
PNLIPRP3	119548	broad.mit.edu	37	chr10	118228695	118228695	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctttcattttctgtcatcAgggaaattgcttcttttgtt	6	8	5	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:118228695A>G	uc001lcl.3	+	9	1029	c.928_splice	c.e9-2	p.G310_splice		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor						lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)		TTCTGTCATCAGGGAAATTGC	0.303													G	118228695	A	G	118228695	5	3	88	1	0	0	0	0	0	0	1	0	12152	202	7	3	960	3	PNLIPRP3	10	118228695	Splice_Site	SNP	A	TCGA-BR-8382-01A-11D-2394-08	2424217	118228695	17306052	556	57978											
KCNK18	338567	broad.mit.edu	37	chr10	118969223	118969223	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatctctcttcaagaaaaaaCcggaccccaagcccgcagat	6	14	3	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:118969223C>A	uc010qsr.1	+	3	568	c.568C>A	c.(568-570)CCG>ACG	p.P190T		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	190	Cytoplasmic (Potential).					integral to membrane|plasma membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;0.19)		all cancers(201;0.0211)		CAAGAAAAAACCGGACCCCAA	0.507													A	118969223	C	A	118969223	3	1	88	1	0	0	0	0	1	0	0	0	8065	507	18	5	578	5	KCNK18	10	118969223	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	740528	118969223	16565524	557	57979											
CPXM2	119587	broad.mit.edu	37	chr10	125514247	125514248	+	Frame_Shift_Del	DEL	TC	TC	-													ggattccttttccatgtgaaTctctcaccaagcctttaatg							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:125514246_125514247ATC>A	uc001lhk.1	-	12	2274_2275	c.1949_1950GAT>T	c.(1948-1950)gatfs	p.D650fs	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	650					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TTCCATGTGAATCTCTCACCAA	0.49													-	125514248	TC	-	125514247	7	5	88	1	0	1	0	1	0	0	0	0	3838	1435	50	0	329	0	CPXM2	10	125514247	Frame_Shift_Del	DEL	TC	TCGA-BR-8382-01A-11D-2394-08	6545024	125514247	10020500	558	57980											
CHST15	51363	broad.mit.edu	37	chr10	125769827	125769827	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatgcggggctcttggtcatCaaagcctcctgcttctcact	10	13	4	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:125769827C>A	uc001lhl.2	-	7	2037	c.1524G>T	c.(1522-1524)TTG>TTT	p.L508F	CHST15_uc001lhm.2_Missense_Mutation_p.L508F|CHST15_uc001lhn.2_Missense_Mutation_p.L508F	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	508	Lumenal (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						TCTTGGTCATCAAAGCCTCCT	0.547													A	125769827	C	A	125769827	3	1	88	1	0	0	0	0	1	0	0	0	3403	825	29	5	165	5	CHST15	10	125769827	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	255580	125769827	9764920	559	57981											
IFITM5	387733	broad.mit.edu	37	chr11	299306	299306	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtagggcccctgcccaccTtgatggagtaggccagcgcc	14	15	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:299306T>C	uc001low.1	-	1	221	c.185A>G	c.(184-186)AAG>AGG	p.K62R		NM_001025295	NP_001020466	A6NNB3	IFM5_HUMAN	interferon induced transmembrane protein 5	62	Cytoplasmic (Potential).				multicellular organismal development|regulation of bone mineralization|response to biotic stimulus	integral to membrane|plasma membrane					0		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCTGCCCACCTTGATGGAGTA	0.662													C	299306	T	C	299306	3	2	88	1	0	0	0	0	1	0	0	0	7529	1623	56	3	221	3	IFITM5	11	299306	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08		299306	134707210	560	57982											
ANO9	338440	broad.mit.edu	37	chr11	418410	418410	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcactgaagatggatgctggGgtgggatgggcaggcattgg	20	5	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:418410G>T	uc001lpi.2	-	23	2395	c.2310C>A	c.(2308-2310)ACC>ACA	p.T770T	SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Silent_p.T463T|ANO9_uc010qvv.1_Silent_p.T626T	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	770	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						TGGATGCTGGGGTGGGATGGG	0.647													T	418410	G	T	418410	2	4	88	1	0	0	0	0	0	0	0	1	704	1219	43	5		5	ANO9	11	418410	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	119104	418410	134588106	561	57983											
RNH1	6050	broad.mit.edu	37	chr11	498110	498110	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgagctgaagtgggagcAgcaggcggctgtgaagctgc	17	9	0	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:498110A>G	uc001lpk.1	-	7	2396	c.988T>C	c.(988-990)TGC>CGC	p.C330R	RNH1_uc001lpl.1_Missense_Mutation_p.C330R|RNH1_uc001lpm.1_Missense_Mutation_p.C330R|RNH1_uc001lpn.1_Missense_Mutation_p.C330R|RNH1_uc001lpo.1_Missense_Mutation_p.C330R|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Missense_Mutation_p.C330R|RNH1_uc001lpt.1_Missense_Mutation_p.C87R|RNH1_uc001lpq.1_Missense_Mutation_p.C330R|RNH1_uc001lpr.1_Missense_Mutation_p.C330R|RNH1_uc001lps.1_Missense_Mutation_p.C330R	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	330	LRR 11.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGTGGGAGCAGCAGGCGGCT	0.637													G	498110	A	G	498110	3	3	88	1	0	0	0	0	1	0	0	0	13504	188	7	3	409	3	RNH1	11	498110	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	79700	498110	134508406	562	57984											
EPS8L2	64787	broad.mit.edu	37	chr11	723305	723306	+	Frame_Shift_Ins	INS	-	-	C													agccccacttcagagcccacINSccccccgggggatgccctac							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:723304_723305A>AC	uc001lqt.3	+	14	1652_1653	c.1405_1406A>AC	c.(1405-1407)accfs	p.T469fs	EPS8L2_uc001lqu.3_Frame_Shift_Ins_p.T469fs|EPS8L2_uc010qwk.2_Frame_Shift_Ins_p.T485fs|EPS8L2_uc001lqv.3_Frame_Shift_Ins_p.T424fs|EPS8L2_uc001lqw.3_Frame_Shift_Ins_p.T81fs|EPS8L2_uc001lqx.3_Frame_Shift_Ins_p.T81fs|EPS8L2_uc001lqy.3_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	Homo sapiens EPS8-like 2 (EPS8L2), mRNA.	469						cytoplasm		p.D473fs*30(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTCAGAGCCCACCCCCCCGGGG	0.584											OREG0020659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	723306	-	C	723305	7	5	88	1	0	1	1	0	0	0	0	0	5196	507	18	0	1460	0	EPS8L2	11	723305	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	225195	723305	134283211	563	57985											
PDDC1	347862	broad.mit.edu	37	chr11	774114	774114	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaattccatggctttcccCtggagaagcagagcccaggg	11	12	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:774114C>A	uc001lrc.2	-	3	167	c.142_splice	c.e3-1	p.G48_splice	PDDC1_uc010qwm.1_Splice_Site|PDDC1_uc001lrd.2_Splice_Site_p.G48_splice|PDDC1_uc001lrf.1_Splice_Site_p.G48_splice|PDDC1_uc001lrg.1_Splice_Site|PDDC1_uc009ycg.2_Splice_Site|PDDC1_uc010qwn.1_Splice_Site|PDDC1_uc010qwo.1_Splice_Site|PDDC1_uc010qwp.1_Splice_Site_p.G48_splice|PDDC1_uc010qwq.1_Splice_Site|PDDC1_uc010qwr.1_Splice_Site_p.G48_splice|PDDC1_uc010qws.1_Splice_Site	NM_182612	NP_872418	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1							extracellular region					0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGCTTTCCCCTGGAGAAGCA	0.602													A	774114	C	A	774114	5	1	88	1	0	0	0	0	0	0	1	0	11629	695	24	5	545	5	PDDC1	11	774114	Splice_Site	SNP	C	TCGA-BR-8382-01A-11D-2394-08	50809	774114	134232402	564	57986											
MUC6	4588	broad.mit.edu	37	chr11	1015989	1015989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtgagagaagtggaccgcGaggtggtggactgagaggag	21	4	0	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:1015989G>A	uc001lsw.2	-	31	6863	c.6812C>T	c.(6811-6813)TCG>TTG	p.S2271L		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	2271	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTGGACCGCGAGGTGGTGGA	0.627													A	1015989	G	A	1015989	3	1	88	1	0	0	0	0	1	0	0	0	9980	1059	37	1	519	1	MUC6	11	1015989	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	241875	1015989	133990527	565	57987											
MRPL23	6150	broad.mit.edu	37	chr11	1972219	1972219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcccggtgtggcccagccCgaggacaccgtgcagttccg	15	16	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:1972219C>T	uc001lux.2	+	2	199	c.108C>T	c.(106-108)CCC>CCT	p.P36P		NM_021134	NP_066957	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	36					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|ovary(1)	3		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TGGCCCAGCCCGAGGACACCG	0.657													T	1972219	C	T	1972219	2	4	88	1	0	0	0	0	0	0	0	1	9789	639	23	1		1	MRPL23	11	1972219	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	956230	1972219	133034297	566	57988											
TRIM68	55128	broad.mit.edu	37	chr11	4621796	4621796	+	Frame_Shift_Del	DEL	G	G	-													tatcacccagaatccatagtGgggggataagtagaccacct							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:4621795_4621795TG>T	uc001lzf.2	-	6	1459	c.1169_1169CA>A	c.(1168-1170)cacfs	p.H390fs	TRIM68_uc010qyj.2_Non-coding_Transcript	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	Homo sapiens tripartite motif containing 68 (TRIM68), mRNA.	390	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GAATCCATAGTGGGGGGATAA	0.577													-	4621796	G	-	4621796	7	5	88	1	0	1	0	1	0	0	0	0	16538	1348	47	0	293	0	TRIM68	11	4621796	Frame_Shift_Del	DEL	G	TCGA-BR-8382-01A-11D-2394-08	2649577	4621796	130384720	567	57989											
UBQLN3	50613	broad.mit.edu	37	chr11	5529402	5529402	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaatggctgccgtgggggAaaaagataagggagcaaatg	17	4	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:5529402A>G	uc001may.1	-	2	1473	c.1387T>C	c.(1387-1389)TCC>CCC	p.S463P	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	463										ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCGTGGGGGAAAAAGATAAG	0.547													G	5529402	A	G	5529402	3	3	88	1	0	0	0	0	1	0	0	0	16895	246	9	3	584	3	UBQLN3	11	5529402	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	907606	5529402	129477114	568	57990											
CNGA4	1262	broad.mit.edu	37	chr11	6260939	6260939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttccccgacttgcagcacGgttatctggtggcctggttg	13	12	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:6260939G>A	uc001mco.2	+	3	297	c.190G>A	c.(190-192)GGT>AGT	p.G64S	CNGA4_uc010raa.1_Missense_Mutation_p.G24S|CNGA4_uc001mcn.2_Missense_Mutation_p.G24S	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	64	Extracellular (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTGCAGCACGGTTATCTGGT	0.572													A	6260939	G	A	6260939	3	1	88	1	0	0	0	0	1	0	0	0	3599	1116	39	1	200	1	CNGA4	11	6260939	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	731537	6260939	128745577	569	57991											
OLFML1	283298	broad.mit.edu	37	chr11	7530851	7530851	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcctaacactttcctggcAgggaacaggccaagtgatct	9	11	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:7530851A>G	uc001mfi.2	+	3	993	c.641A>G	c.(640-642)CAG>CGG	p.Q214R	OLFML1_uc010raz.1_Missense_Mutation_p.Q78R|OLFML1_uc010rba.1_Missense_Mutation_p.Q214R	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1 precursor	214	Olfactomedin-like.					extracellular region				ovary(2)	2				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CTTTCCTGGCAGGGAACAGGC	0.423													G	7530851	A	G	7530851	3	3	88	1	0	0	0	0	1	0	0	0	10856	188	7	3	651	3	OLFML1	11	7530851	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	1269912	7530851	127475665	570	57992											
NLRP10	338322	broad.mit.edu	37	chr11	7982583	7982583	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcctgggtacagagtaccGgtggcccagtccaacaccat	12	14	0	1	rs138681119	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:7982583G>A	uc001mfv.1	-	2	593	c.576C>T	c.(574-576)ACC>ACT	p.T192T		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	192	NACHT.						ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACAGAGTACCGGTGGCCCAGT	0.532													A	7982583	G	A	7982583	2	1	88	1	0	0	0	0	0	0	0	1	10472	1103	39	1		1	NLRP10	11	7982583	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	451732	7982583	127023933	571	57993											
IPO7	10527	broad.mit.edu	37	chr11	9459747	9459747	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttttatccttttatttaaCggattgaaaagagcatatgc	7	6	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:9459747C>T	uc001mho.2	+	22	2752	c.2610C>T	c.(2608-2610)AAC>AAT	p.N870N		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	870					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTTTATTTAACGGATTGAAAA	0.338													T	9459747	C	T	9459747	2	4	88	1	0	0	0	0	0	0	0	1	7797	535	19	1		1	IPO7	11	9459747	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1477164	9459747	125546769	572	57994											
ARNTL	406	broad.mit.edu	37	chr11	13402723	13402723	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaggataagagggtcatcGccttctagctgtggctccag	13	10	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:13402723G>A	uc001mkr.2	+	18	1947	c.1539G>A	c.(1537-1539)TCG>TCA	p.S513S	ARNTL_uc001mko.2_Silent_p.S469S|ARNTL_uc001mkp.2_Silent_p.S512S|ARNTL_uc001mkq.2_Silent_p.S512S|ARNTL_uc001mks.2_Silent_p.S470S|ARNTL_uc001mkt.2_Silent_p.S513S|ARNTL_uc001mku.2_RNA|ARNTL_uc001mkw.2_Silent_p.S470S|ARNTL_uc001mkx.2_Silent_p.S511S|ARNTL_uc001mky.2_Silent_p.S51S	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	513				SP -> LR (in Ref. 2; AAC51213).	circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0				Epithelial(150;0.0243)		GAGGGTCATCGCCTTCTAGCT	0.478													A	13402723	G	A	13402723	2	1	88	1	0	0	0	0	0	0	0	1	967	1074	38	1		1	ARNTL	11	13402723	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	3942976	13402723	121603793	573	57995											
KCNC1	3746	broad.mit.edu	37	chr11	17794004	17794004	+	Frame_Shift_Del	DEL	A	A	-													ctaagcagaaactaccaaagAaaaaaaagaagcatattccg							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:17794003_17794003GA>G	uc009yhc.1	+	1	1417	c.1362_1362GA>G	c.(1360-1362)aagfs	p.K454fs	KCNC1_uc001mnk.4_Frame_Shift_Del_p.K454fs	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	454						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AACTACCAAAGAAAAAAAAGA	0.502													-	17794004	A	-	17794004	7	5	88	1	0	1	0	1	0	0	0	0	8014	247	9	0	1369	0	KCNC1	11	17794004	Frame_Shift_Del	DEL	A	TCGA-BR-8382-01A-11D-2394-08	4391281	17794004	117212512	574	57996											
PRMT3	10196	broad.mit.edu	37	chr11	20515731	20515731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcgtgttctctacgggcCctcagagcaccaaaacacac	9	14	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:20515731C>T	uc001mqb.2	+	15	1634	c.1417C>T	c.(1417-1419)CCT>TCT	p.P473S	PRMT3_uc001mqc.2_Missense_Mutation_p.P396S|PRMT3_uc010rdn.1_Missense_Mutation_p.P411S	NM_005788	NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3 isoform 1	473							zinc ion binding				0						CTCTACGGGCCCTCAGAGCAC	0.373													T	20515731	C	T	20515731	3	4	88	1	0	0	0	0	1	0	0	0	12538	623	22	4	1475	4	PRMT3	11	20515731	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2721727	20515731	114490785	575	57997											
BDNF	627	broad.mit.edu	37	chr11	27680043	27680043	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtcctcggatgtttgcTtctttcatgggggcagcctt	11	11	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:27680043T>C	uc010rdu.1	-	2	920	c.69A>G	c.(67-69)GAA>GAG	p.E23E	BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_RNA|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_RNA|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_RNA|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_RNA|BDNFOS_uc009yip.2_RNA|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_RNA|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_RNA|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_RNA|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_RNA|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_RNA|BDNFOS_uc009yiz.2_RNA|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_RNA|BDNF_uc010rdv.1_Silent_p.E23E|BDNF_uc001mrt.2_Silent_p.E38E|BDNF_uc010rdw.1_Silent_p.E23E|BDNF_uc009yjd.2_Silent_p.E23E|BDNF_uc001mru.2_Silent_p.E23E|BDNF_uc010rdx.1_Silent_p.E23E|BDNF_uc010rdy.1_Silent_p.E23E|BDNF_uc009yjg.2_Silent_p.E23E|BDNF_uc009yje.2_Silent_p.E105E|BDNF_uc009yjf.2_Silent_p.E52E|BDNF_uc001mrv.2_Silent_p.E23E|BDNF_uc001mrw.3_Silent_p.E23E|BDNF_uc001mrx.2_Silent_p.E23E|BDNF_uc001mry.3_Silent_p.E23E|BDNF_uc001mrz.3_Silent_p.E23E|BDNF_uc001msa.2_Silent_p.E31E	NM_001143816	NP_001137288	P23560	BDNF_HUMAN	brain-derived neurotrophic factor isoform a	23						extracellular region	growth factor activity				0						GGATGTTTGCTTCTTTCATGG	0.522													C	27680043	T	C	27680043	2	2	88	1	0	0	0	0	0	0	0	1	1394	1606	56	3		3	BDNF	11	27680043	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	7164312	27680043	107326473	576	57998											
PAX6	5080	broad.mit.edu	37	chr11	31823109	31823109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgttctcaatgaacttacGcttggtatgttatcgttggt	10	6	1	1	rs121907928		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:31823109G>A	uc001mtd.3	-	5	1247	c.357C>T	c.(355-357)AGC>AGT	p.S119S	PAX6_uc001mte.3_Silent_p.S119S|PAX6_uc001mtg.3_Silent_p.S133S|PAX6_uc001mtf.3_Silent_p.S119S|PAX6_uc001mth.3_Silent_p.S119S|PAX6_uc009yjr.2_Silent_p.S119S	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	119	Paired.		S -> R (in AN).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					ATGAACTTACGCTTGGTATGT	0.512									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				A	31823109	G	A	31823109	2	1	88	1	0	0	0	0	0	0	0	1	11483	1101	38	1		1	PAX6	11	31823109	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	4143066	31823109	103183407	577	57999											
OR4C15	81309	broad.mit.edu	37	chr11	55322544	55322544	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttggcctcatggtggtcatCaacagtgggtttatctgcat	11	8	4	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:55322544C>A	uc010rig.1	+	1	762	c.762C>A	c.(760-762)ATC>ATA	p.I254I		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	200	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGGTGGTCATCAACAGTGGGT	0.468										HNSCC(20;0.049)			A	55322544	C	A	55322544	2	1	88	1	0	0	0	0	0	0	0	1	11048	816	29	5		5	OR4C15	11	55322544	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	23499435	55322544	79683972	578	58000											
OR5F1	338674	broad.mit.edu	37	chr11	55761467	55761467	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaggaggagaggatgacaAgcagagtccccacaatattc	12	8	0	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:55761467A>C	uc010riv.1	-	1	635	c.635T>G	c.(634-636)CTT>CGT	p.L212R		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					GAGGATGACAAGCAGAGTCCC	0.483													C	55761467	A	C	55761467	3	2	88	1	0	0	0	0	1	0	0	0	11158	72	3	5	312	5	OR5F1	11	55761467	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	438923	55761467	79245049	579	58001											
OR5M3	219482	broad.mit.edu	37	chr11	56237279	56237279	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtggaaaaggccttctgcCttccttctgctgagcgcatt	10	11	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:56237279C>A	uc010rjk.1	-	1	695	c.695G>T	c.(694-696)AGG>ATG	p.R232M		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	232	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GGCCTTCTGCCTTCCTTCTGC	0.443													A	56237279	C	A	56237279	3	1	88	1	0	0	0	0	1	0	0	0	11175	681	24	5	230	5	OR5M3	11	56237279	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	475812	56237279	78769237	580	58002											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57068391	57068391	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttgggaggtaacgtgAggggctttcccagtcctggg	17	9	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:57068391A>G	uc001njr.2	-	9	5408	c.5096T>C	c.(5095-5097)CTC>CCC	p.L1699P	TNKS1BP1_uc001njp.2_Missense_Mutation_p.L271P|TNKS1BP1_uc001njq.2_Missense_Mutation_p.L272P|TNKS1BP1_uc001njs.2_Missense_Mutation_p.L1699P	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1699	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				AGGTAACGTGAGGGGCTTTCC	0.552													G	57068391	A	G	57068391	3	3	88	1	0	0	0	0	1	0	0	0	16317	304	11	3	101	3	TNKS1BP1	11	57068391	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	831112	57068391	77938125	581	58003											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57080070	57080070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagctccccgccttgcacCgccaccactgggtggtggtg	12	17	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:57080070C>T	uc001njr.2	-	4	2404	c.2092G>A	c.(2092-2094)GGT>AGT	p.G698S	TNKS1BP1_uc001njs.2_Missense_Mutation_p.G698S|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.G149S	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	698	Pro-rich.|Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				CGCCTTGCACCGCCACCACTG	0.627													T	57080070	C	T	57080070	3	4	88	1	0	0	0	0	1	0	0	0	16317	652	23	1	3125	1	TNKS1BP1	11	57080070	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	11679	57080070	77926446	582	58004											
CTNND1	1500	broad.mit.edu	37	chr11	57569533	57569533	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaagtgcaccttggagccTgtggagctctcaagaatatc	12	9	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:57569533T>C	uc001nmc.3	+	7	1856	c.1285T>C	c.(1285-1287)TGT>CGT	p.C429R	CTNND1_uc001nlh.1_Missense_Mutation_p.C429R|CTNND1_uc001nlu.3_Missense_Mutation_p.C328R|CTNND1_uc001nlt.3_Missense_Mutation_p.C328R|CTNND1_uc001nls.3_Missense_Mutation_p.C328R|CTNND1_uc001nlw.3_Missense_Mutation_p.C328R|CTNND1_uc001nmf.3_Missense_Mutation_p.C429R|CTNND1_uc001nmd.3_Missense_Mutation_p.C375R|CTNND1_uc001nlk.3_Missense_Mutation_p.C375R|CTNND1_uc001nme.3_Missense_Mutation_p.C429R|CTNND1_uc001nll.3_Missense_Mutation_p.C375R|CTNND1_uc001nmg.3_Missense_Mutation_p.C375R|CTNND1_uc001nlj.3_Missense_Mutation_p.C375R|CTNND1_uc001nlr.3_Missense_Mutation_p.C375R|CTNND1_uc001nlp.3_Missense_Mutation_p.C375R|CTNND1_uc001nlx.3_Missense_Mutation_p.C106R|CTNND1_uc001nlz.3_Missense_Mutation_p.C106R|CTNND1_uc009ymn.2_Missense_Mutation_p.C106R|CTNND1_uc001nlm.3_Missense_Mutation_p.C429R|CTNND1_uc001nly.3_Missense_Mutation_p.C106R|CTNND1_uc001nmb.3_Missense_Mutation_p.C106R|CTNND1_uc001nma.3_Missense_Mutation_p.C106R|CTNND1_uc001nmi.3_Missense_Mutation_p.C328R|CTNND1_uc001nmh.3_Missense_Mutation_p.C429R|CTNND1_uc001nlq.3_Missense_Mutation_p.C328R|CTNND1_uc001nln.3_Missense_Mutation_p.C429R|CTNND1_uc001nli.3_Missense_Mutation_p.C429R|CTNND1_uc001nlo.3_Missense_Mutation_p.C328R|CTNND1_uc001nlv.3_Missense_Mutation_p.C328R	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	429	ARM 2.				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)				CCTTGGAGCCTGTGGAGCTCT	0.493													C	57569533	T	C	57569533	3	2	88	1	0	0	0	0	1	0	0	0	4019	1580	55	3	1303	3	CTNND1	11	57569533	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	489463	57569533	77436983	583	58005											
SCGB1D4	404552	broad.mit.edu	37	chr11	62064988	62064988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttaaaagatatctgatcGgtgcagtgcttcacttccaa	7	9	3	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:62064988G>A	uc001ntd.1	-	2	252	c.198C>T	c.(196-198)ACC>ACT	p.T66T		NM_206998	NP_996881	Q6XE38	SG1D4_HUMAN	secretoglobin family 1D member 4 precursor	66						extracellular region	binding				0						ATATCTGATCGGTGCAGTGCT	0.438													A	62064988	G	A	62064988	2	1	88	1	0	0	0	0	0	0	0	1	13898	1103	39	1		1	SCGB1D4	11	62064988	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	4495455	62064988	72941528	584	58006											
MTA2	9219	broad.mit.edu	37	chr11	62361871	62361871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagaaaggaacccctgcCcctgccatctggaaaagggg	13	12	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:62361871C>T	uc001ntq.1	-	17	2082	c.1701G>A	c.(1699-1701)GGG>GGA	p.G567G	TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Silent_p.G394G	NM_004739	NP_004730	O94776	MTA2_HUMAN	metastasis-associated protein 2	567					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						GAACCCCTGCCCCTGCCATCT	0.557													T	62361871	C	T	62361871	2	4	88	1	0	0	0	0	0	0	0	1	9909	610	22	4		4	MTA2	11	62361871	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	296883	62361871	72644645	585	58007											
LRRN4CL	221091	broad.mit.edu	37	chr11	62455768	62455768	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagagtcctgggcacagGcaggccgccggcccgaccct	15	16	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:62455768G>A	uc001nun.2	-	2	520	c.213C>T	c.(211-213)TGC>TGT	p.C71C		NM_203422	NP_981967	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like precursor	71	Extracellular (Potential).					integral to membrane					0						CTGGGCACAGGCAGGCCGCCG	0.726													A	62455768	G	A	62455768	2	1	88	1	0	0	0	0	0	0	0	1	9038	1195	42	2		2	LRRN4CL	11	62455768	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	93897	62455768	72550748	586	58008											
SLC22A11	55867	broad.mit.edu	37	chr11	64336156	64336156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccagatttgcagaccctgCgtgtggtctttgctgtgctg	12	11	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:64336156C>T	uc001oai.2	+	8	1662	c.1288C>T	c.(1288-1290)CGT>TGT	p.R430C	SLC22A11_uc001oaj.2_Missense_Mutation_p.R430C|SLC22A11_uc009ypq.2_Intron	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	430	Extracellular (Potential).				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)	GCAGACCCTGCGTGTGGTCTT	0.582													T	64336156	C	T	64336156	3	4	88	1	0	0	0	0	1	0	0	0	14442	768	27	1	1318	1	SLC22A11	11	64336156	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1880388	64336156	70670360	587	58009											
PYGM	5837	broad.mit.edu	37	chr11	64527189	64527189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgccccacgaggtggtcgCgcacggtatgggccagagca	16	13	0	1	rs145514333	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:64527189C>T	uc001oax.3	-	1	999	c.182G>A	c.(181-183)CGC>CAC	p.R61H	PYGM_uc001oay.3_Missense_Mutation_p.R61H	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	61					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	GAGGTGGTCGCGCACGGTATG	0.597													T	64527189	C	T	64527189	3	4	88	1	0	0	0	0	1	0	0	0	12862	768	27	1	2426	1	PYGM	11	64527189	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	191033	64527189	70479327	588	58010											
CDC42BPG	55561	broad.mit.edu	37	chr11	64603009	64603009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagctgctctcgcagggCggccacctccttcctcagtt	9	18	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:64603009C>T	uc001obs.3	-	15	1843	c.1843G>A	c.(1843-1845)GCC>ACC	p.A615T		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	615	Potential.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						TCTCGCAGGGCGGCCACCTCC	0.692													T	64603009	C	T	64603009	3	4	88	1	0	0	0	0	1	0	0	0	3074	768	27	1	2904	1	CDC42BPG	11	64603009	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	75820	64603009	70403507	589	58011											
CDC42BPG	55561	broad.mit.edu	37	chr11	64606620	64606620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaccagtcacactgtgggCcgtagtggcccttgccctcc	10	17	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:64606620C>T	uc001obs.3	-	7	761	c.761G>A	c.(760-762)GGC>GAC	p.G254D		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	254	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						ACACTGTGGGCCGTAGTGGCC	0.597													T	64606620	C	T	64606620	3	4	88	1	0	0	0	0	1	0	0	0	3074	739	26	2	4018	2	CDC42BPG	11	64606620	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	3611	64606620	70399896	590	58012											
ATG2A	23130	broad.mit.edu	37	chr11	64665575	64665575	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccctcagcggaggtctccCctgggaccacggggttgatg	14	14	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:64665575C>A	uc001obx.2	-	34	4956	c.4841G>T	c.(4840-4842)GGG>GTG	p.G1614V	ATG2A_uc001obw.2_Missense_Mutation_p.G379V	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1614							protein binding			ovary(1)|central_nervous_system(1)	2						GGAGGTCTCCCCTGGGACCAC	0.622											OREG0004029	type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	64665575	C	A	64665575	3	1	88	1	0	0	0	0	1	0	0	0	1093	623	22	5	1007	5	ATG2A	11	64665575	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	58955	64665575	70340941	591	58013											
MAP3K11	4296	broad.mit.edu	37	chr11	65365879	65365879	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggagtcccagaaggggtcTgagtccgggaacaaggtcca	17	9	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:65365879T>G	uc001oew.2	-	10	2920	c.2427A>C	c.(2425-2427)TCA>TCC	p.S809S	KCNK7_uc001oeq.2_5'Flank|KCNK7_uc001oer.2_5'Flank|KCNK7_uc001oes.2_5'Flank|KCNK7_uc001oeu.2_5'Flank|MAP3K11_uc001oev.2_Silent_p.S225S|MAP3K11_uc010rol.1_Silent_p.S552S|MAP3K11_uc001oex.1_Silent_p.S298S	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	809	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						AGAAGGGGTCTGAGTCCGGGA	0.672													G	65365879	T	G	65365879	2	3	88	1	0	0	0	0	0	0	0	1	9245	1567	55	5		5	MAP3K11	11	65365879	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	700304	65365879	69640637	592	58014											
PCNXL3	399909	broad.mit.edu	37	chr11	65396109	65396109	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgtttcgtgctgacctacaTcgcgccctggcagatcacct	10	15	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:65396109T>G	uc001oey.2	+	23	3746	c.3746T>G	c.(3745-3747)ATC>AGC	p.I1249S	PCNXL3_uc001oez.2_Missense_Mutation_p.I136S	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1249	Helical; (Potential).					integral to membrane					0						CTGACCTACATCGCGCCCTGG	0.602													G	65396109	T	G	65396109	3	3	88	1	0	0	0	0	1	0	0	0	11593	1435	50	5	3836	5	PCNXL3	11	65396109	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	30230	65396109	69610407	593	58015											
KAT5	10524	broad.mit.edu	37	chr11	65481995	65481995	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagctctgatggaataccGtcagcaccacgcatgactgg	11	12	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:65481995G>A	uc001ofi.2	+	8	871	c.621G>A	c.(619-621)CCG>CCA	p.P207P	KAT5_uc001ofj.2_Silent_p.P155P|KAT5_uc001ofk.2_Silent_p.P240P|KAT5_uc010roo.1_Silent_p.P188P|KAT5_uc001ofl.2_5'UTR	NM_006388	NP_006379	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5 isoform 2	207					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity				0						ATGGAATACCGTCAGCACCAC	0.527													A	65481995	G	A	65481995	2	1	88	1	0	0	0	0	0	0	0	1	7983	1132	40	1		1	KAT5	11	65481995	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	85886	65481995	69524521	594	58016											
SF3B2	10992	broad.mit.edu	37	chr11	65827423	65827423	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagccccccttcgagctGccagacttcatcaaacgcac	8	16	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:65827423G>A	uc001ogy.1	+	13	1612	c.1572G>A	c.(1570-1572)CTG>CTA	p.L524L		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	524					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						CCTTCGAGCTGCCAGACTTCA	0.617													A	65827423	G	A	65827423	2	1	88	1	0	0	0	0	0	0	0	1	14151	1306	46	2		2	SF3B2	11	65827423	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	345428	65827423	69179093	595	58017											
DPP3	10072	broad.mit.edu	37	chr11	66272155	66272156	+	Frame_Shift_Ins	INS	-	-	C													tgcaacagtcactgatgcgcINScccccgagtgcttcctcacc					rs142447712		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:66272154_66272155G>GC	uc001oig.1	+	16	2012_2013	c.1950_1951G>GC	c.(1948-1953)gcgcccfs	p.A650fs	DPP3_uc001oif.1_Frame_Shift_Ins_p.A650fs|DPP3_uc010rpe.1_Frame_Shift_Ins_p.A639fs|BBS1_uc001oih.1_Frame_Shift_Ins_p.R18fs	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	650					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCACTGATGCGCCCCCCGAGTG	0.579													C	66272156	-	C	66272155	7	5	88	1	0	1	1	0	0	0	0	0	4728	739	26	0	2013	0	DPP3	11	66272155	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	444732	66272155	68734361	596	58018											
KDM2A	22992	broad.mit.edu	37	chr11	67018078	67018078	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggggggagaggaggaggaAgaggaggaggaggaggagga	26	1	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:67018078A>G	uc001ojw.2	+	17	3441	c.2577A>G	c.(2575-2577)GAA>GAG	p.E859E	KDM2A_uc001ojx.2_Intron|KDM2A_uc001ojy.2_Silent_p.E553E|KDM2A_uc010rpn.1_Silent_p.E420E|KDM2A_uc001ojz.1_Silent_p.E317E|KDM2A_uc001oka.2_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	859					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						aggaggaggaagaggaggagg	0.473													G	67018078	A	G	67018078	2	3	88	1	0	0	0	0	0	0	0	1	8124	69	3	3		3	KDM2A	11	67018078	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	745923	67018078	67988438	597	58019											
RPS6KB2	6199	broad.mit.edu	37	chr11	67201891	67201891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgatacccgcttcacacGgcagacgccggtggacagtc	12	13	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:67201891G>A	uc001old.2	+	13	1173	c.1091G>A	c.(1090-1092)CGG>CAG	p.R364Q	RPS6KB2_uc001olf.2_Missense_Mutation_p.R164Q|RPS6KB2_uc001olg.2_Missense_Mutation_p.R364Q|RPS6KB2_uc009yrq.2_Missense_Mutation_p.R164Q|RPS6KB2_uc001ole.2_RNA|RPS6KB2_uc001olh.2_RNA|RPS6KB2_uc009yrr.2_Missense_Mutation_p.R195Q	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	364	AGC-kinase C-terminal.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)|salivary_gland(1)	7			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGCTTCACACGGCAGACGCCG	0.647													A	67201891	G	A	67201891	3	1	88	1	0	0	0	0	1	0	0	0	13657	1116	39	1	1141	1	RPS6KB2	11	67201891	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	183813	67201891	67804625	598	58020											
GDPD4	220032	broad.mit.edu	37	chr11	76938960	76938960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctttttcagtctctctccGcctagaaggaagcagaccat	7	12	4	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:76938960G>A	uc001oyf.2	-	15	1725	c.1474C>T	c.(1474-1476)CGG>TGG	p.R492W		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain	492	Cytoplasmic (Potential).				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			skin(1)	1						GTCTCTCTCCGCCTAGAAGGA	0.478													A	76938960	G	A	76938960	3	1	88	1	0	0	0	0	1	0	0	0	6326	1101	38	1	96	1	GDPD4	11	76938960	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	9737069	76938960	58067556	599	58021											
KCTD21	283219	broad.mit.edu	37	chr11	77885448	77885448	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcggaacactttgccgtcAcggtcaatgaagcagttgcc	11	11	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:77885448A>C	uc001ozb.2	-	2	228	c.153T>G	c.(151-153)CGT>CGG	p.R51R		NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	potassium channel tetramerisation domain	51	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			CTTTGCCGTCACGGTCAATGA	0.612													C	77885448	A	C	77885448	2	2	88	1	0	0	0	0	0	0	0	1	8109	146	6	5		5	KCTD21	11	77885448	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	946488	77885448	57121068	600	58022											
PIWIL4	143689	broad.mit.edu	37	chr11	94320238	94320238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatccctttggcctgggtttGccatttctgtgtcatatttt	8	9	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:94320238G>A	uc001pfa.2	+	7	950	c.739G>A	c.(739-741)GCC>ACC	p.A247T	PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	247					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			skin(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCCTGGGTTTGCCATTTCTGT	0.358													A	94320238	G	A	94320238	3	1	88	1	0	0	0	0	1	0	0	0	11960	1319	46	2	765	2	PIWIL4	11	94320238	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	16434790	94320238	40686278	601	58023											
CEP57	9702	broad.mit.edu	37	chr11	95564332	95564332	+	Frame_Shift_Del	DEL	A	A	-													tatgaaactgagacctggagAaaaaaggagaaaaaatcttc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:95564331_95564331GA>G	uc001pfp.2	+	10	1652	c.1414_1414GA>G	c.(1414-1416)gaafs	p.E472fs	CEP57_uc009ywn.2_Frame_Shift_Del_p.E320fs|CEP57_uc010ruh.2_Frame_Shift_Del_p.E463fs|CEP57_uc001pfq.2_Frame_Shift_Del_p.E446fs|CEP57_uc001pfr.2_Frame_Shift_Del_p.E320fs	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN	Homo sapiens centrosomal protein 57kDa (CEP57), transcript variant 1, mRNA.	472	Mediates interaction with microtubules (By similarity).				G2/M transition of mitotic cell cycle|fibroblast growth factor receptor signaling pathway|protein import into nucleus, translocation|spermatid development	Golgi apparatus|centrosome|cytosol|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAGACCTGGAGAAAAAAGGAG	0.378									Mosaic Variegated Aneuploidy Syndrome				-	95564332	A	-	95564332	7	5	88	1	0	1	0	1	0	0	0	0	3256	246	9	0	1457	0	CEP57	11	95564332	Frame_Shift_Del	DEL	A	TCGA-BR-8382-01A-11D-2394-08	1244094	95564332	39442184	602	58024											
DDI1	414301	broad.mit.edu	37	chr11	103908053	103908053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacgcaaccctcccttggCggaagccctgctcagcggaa	12	15	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:103908053C>T	uc001phr.2	+	1	746	c.503C>T	c.(502-504)GCG>GTG	p.A168V	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	168					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCTCCCTTGGCGGAAGCCCTG	0.612													T	103908053	C	T	103908053	3	4	88	1	0	0	0	0	1	0	0	0	4328	768	27	1	505	1	DDI1	11	103908053	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	8343721	103908053	31098463	603	58025											
ACAT1	38	broad.mit.edu	37	chr11	108004588	108004588	+	Frame_Shift_Del	DEL	T	T	-													acaagaacacccattggatcTtttttaggcagcctttcctt							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:108004587_108004587CT>C	uc001pjy.3	+	2	237	c.161_161CT>C	c.(160-162)tctfs	p.S54fs	ACAT1_uc001pjw.1_Frame_Shift_Del_p.S54fs|ACAT1_uc001pjx.3_5'UTR	NM_000019	NP_000010	P24752	THIL_HUMAN	Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), nuclear gene encoding mitochondrial protein, mRNA.	54					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	CCCATTGGATCTTTTTTAGGC	0.408													-	108004588	T	-	108004588	7	5	88	1	0	1	0	1	0	0	0	0	121	1596	56	0	172	0	ACAT1	11	108004588	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	4096535	108004588	27001928	604	58026											
RDX	5962	broad.mit.edu	37	chr11	110104137	110104137	+	Frame_Shift_Del	DEL	G	G	-													ctggtggtggtggaggtggaGggggggcagacatcacagtt							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:110104136_110104136AG>A	uc009yxy.3	-	12	1723	c.1413_1413CT>T	c.(1411-1413)cctfs	p.P471fs	RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Frame_Shift_Del_p.P124fs|RDX_uc009yya.3_Intron|RDX_uc001pks.3_Frame_Shift_Del_p.P5fs|RDX_uc001pkt.3_Frame_Shift_Del_p.P125fs|RDX_uc001pku.3_Frame_Shift_Del_p.P471fs|RDX_uc010rwe.2_Frame_Shift_Del_p.P335fs	NM_002906	NP_002897	P35241	RADI_HUMAN	Homo sapiens radixin (RDX), mRNA.	471	Glu-rich.|Poly-Pro.				actin filament capping	Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAG	0.433													-	110104137	G	-	110104137	7	5	88	1	0	1	0	1	0	0	0	0	13198	1000	35	0	347	0	RDX	11	110104137	Frame_Shift_Del	DEL	G	TCGA-BR-8382-01A-11D-2394-08	2099549	110104137	24902379	605	58027											
HTR3B	9177	broad.mit.edu	37	chr11	113813714	113813714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggccaggtggtgatgcGcaggcaccccctggtctatg	14	14	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:113813714G>A	uc001pok.2	+	7	774	c.707G>A	c.(706-708)CGC>CAC	p.R236H	HTR3B_uc001pol.2_Missense_Mutation_p.R225H	NM_006028	NP_006019	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B	236	Extracellular (Potential).				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		GTGGTGATGCGCAGGCACCCC	0.552													A	113813714	G	A	113813714	3	1	88	1	0	0	0	0	1	0	0	0	7445	1087	38	1	733	1	HTR3B	11	113813714	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	3709577	113813714	21192802	606	58028											
FAM55D	54827	broad.mit.edu	37	chr11	114453511	114453511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtctcccctgcagtacGtatctcgagggttgaggatg	14	10	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:114453511G>A	uc001ppc.2	-	3	510	c.329C>T	c.(328-330)ACG>ATG	p.T110M	FAM55D_uc001ppd.2_Translation_Start_Site	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	110						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		CCTGCAGTACGTATCTCGAGG	0.577													A	114453511	G	A	114453511	3	1	88	1	0	0	0	0	1	0	0	0	5587	1145	40	1	1321	1	FAM55D	11	114453511	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	639797	114453511	20553005	607	58029											
BCL9L	283149	broad.mit.edu	37	chr11	118773280	118773280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgagcccaccaggctgCgctgcccatttccaggggcg	12	17	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:118773280C>T	uc001pug.2	-	6	2137	c.1172G>A	c.(1171-1173)CGC>CAC	p.R391H	BCL9L_uc009zal.2_Missense_Mutation_p.R386H	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	391	Pro-rich.|Necessary for interaction with CTNNB1 (By similarity).				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CACCAGGCTGCGCTGCCCATT	0.682													T	118773280	C	T	118773280	3	4	88	1	0	0	0	0	1	0	0	0	1382	768	27	1	3339	1	BCL9L	11	118773280	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	4319769	118773280	16233236	608	58030											
VPS11	55823	broad.mit.edu	37	chr11	118942398	118942398	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctaagtgacccttctcaGgacctgcagttcattgtggc	10	13	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:118942398G>T	uc010ryx.1	+	6	771	c.729G>T	c.(727-729)CAG>CAT	p.Q243H	VPS11_uc010ryy.1_Missense_Mutation_p.Q89H	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	243					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		ACCCTTCTCAGGACCTGCAGT	0.557													T	118942398	G	T	118942398	3	4	88	1	0	0	0	0	1	0	0	0	17185	991	35	5	746	5	VPS11	11	118942398	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	169118	118942398	16064118	609	58031											
RNF26	79102	broad.mit.edu	37	chr11	119206740	119206740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggcgagttggccaaaccGgggaggggcacctggagctc	18	11	0	0	rs144743618	by1000genomes	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:119206740G>A	uc001pwh.2	+	1	1504	c.908G>A	c.(907-909)CGG>CAG	p.R303Q		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	ring finger protein 26	303							zinc ion binding			ovary(1)	1		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		TGGCCAAACCGGGGAGGGGCA	0.637													A	119206740	G	A	119206740	3	1	88	1	0	0	0	0	1	0	0	0	13486	1116	39	1	910	1	RNF26	11	119206740	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	264342	119206740	15799776	610	58032											
CCDC15	80071	broad.mit.edu	37	chr11	124824758	124824758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctatagtaccagttgggGcatgggtggaacctgcctca	14	9	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:124824758G>A	uc001qbm.3	+	2	389	c.130G>A	c.(130-132)GCA>ACA	p.A44T		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	44						centrosome				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		ACCAGTTGGGGCATGGGTGGA	0.517													A	124824758	G	A	124824758	3	1	88	1	0	0	0	0	1	0	0	0	2784	1203	42	2	132	2	CCDC15	11	124824758	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	5618018	124824758	10181758	611	58033											
ARHGAP32	9743	broad.mit.edu	37	chr11	128840482	128840482	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttataacgaagacccatggaGgctggtggctctgacctggc	13	10	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:128840482G>T	uc009zcp.2	-	22	4584	c.4584C>A	c.(4582-4584)GCC>GCA	p.A1528A	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.A487A|ARHGAP32_uc001qez.2_Silent_p.A1179A	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1528	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						GACCCATGGAGGCTGGTGGCT	0.522													T	128840482	G	T	128840482	2	4	88	1	0	0	0	0	0	0	0	1	881	987	35	5		5	ARHGAP32	11	128840482	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	4015724	128840482	6166034	612	58034											
NTF3	4908	broad.mit.edu	37	chr12	5603748	5603748	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgtatctcatggaggattAcgtgggcagccccgtggtgg	15	9	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:5603748A>G	uc001qnl.3	+	1	451	c.368A>G	c.(367-369)TAC>TGC	p.Y123C	NTF3_uc001qnk.3_Missense_Mutation_p.Y136C	NM_002527	NP_002518	P20783	NTF3_HUMAN	neurotrophin 3 isoform 2 preproprotein	123					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			pancreas(1)	1						ATGGAGGATTACGTGGGCAGC	0.602													G	5603748	A	G	5603748	3	3	88	1	0	0	0	0	1	0	0	0	10696	391	14	3	413	3	NTF3	12	5603748	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08		5603748	128248147	613	58035											
NCAPD2	9918	broad.mit.edu	37	chr12	6619795	6619795	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagattctgcccctcacagTggtatcccgccactcccagg	8	17	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:6619795T>C	uc001qoo.2	+	5	309	c.263T>C	c.(262-264)GTG>GCG	p.V88A	NCAPD2_uc009zen.1_Intron|NCAPD2_uc010sfd.1_Missense_Mutation_p.M43T	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	88	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						CCCCTCACAGTGGTATCCCGC	0.463													C	6619795	T	C	6619795	3	2	88	1	0	0	0	0	1	0	0	0	10205	1710	59	3	277	3	NCAPD2	12	6619795	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	1016047	6619795	127232100	614	58036											
CD163L1	283316	broad.mit.edu	37	chr12	7526069	7526069	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttagataaaggggcgaggcTgacaactccattctccccac	9	13	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:7526069T>C	uc001qsy.2	-	14	3603	c.3577A>G	c.(3577-3579)AGC>GGC	p.S1193G	CD163L1_uc010sge.1_Missense_Mutation_p.S1203G	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	1193	SRCR 11.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						GGGGCGAGGCTGACAACTCCA	0.557													C	7526069	T	C	7526069	3	2	88	1	0	0	0	0	1	0	0	0	2968	1580	55	3	808	3	CD163L1	12	7526069	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	906274	7526069	126325826	615	58037											
NECAP1	25977	broad.mit.edu	37	chr12	8245509	8245509	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcttctaagcccaggacTgcaaggggtgggggtctgag	18	8	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:8245509T>C	uc001qtx.2	+	6	612	c.534T>C	c.(532-534)ACT>ACC	p.T178T	NECAP1_uc001qty.2_Silent_p.T36T	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	178					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				ovary(1)	1				Kidney(36;0.0915)		AGCCCAGGACTGCAAGGGGTG	0.498													C	8245509	T	C	8245509	2	2	88	1	0	0	0	0	0	0	0	1	10307	1567	55	3		3	NECAP1	12	8245509	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	719440	8245509	125606386	616	58038											
CLEC7A	64581	broad.mit.edu	37	chr12	10278042	10278042	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggaggacaagggctggaaaGaacccctggaaataaaagat	13	6	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:10278042G>T	uc001qxg.2	-	4	533	c.346C>A	c.(346-348)CTT>ATT	p.L116I	CLEC7A_uc001qxe.3_RNA|CLEC7A_uc001qxf.2_Missense_Mutation_p.L70I|CLEC7A_uc001qxh.2_Missense_Mutation_p.L70I|CLEC7A_uc001qxi.2_Missense_Mutation_p.L116I|CLEC7A_uc001qxj.2_Missense_Mutation_p.L37I|CLEC7A_uc009zhg.1_Intron|CLEC7A_uc001qxk.1_RNA|CLEC7A_uc001qxl.1_Missense_Mutation_p.L116I|CLEC7A_uc010sgy.1_Missense_Mutation_p.L70I|CLEC7A_uc001qxm.1_Missense_Mutation_p.L70I	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN	dendritic cell-associated C-type lectin 1	116	Extracellular (Potential).				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)	1						GGGCTGGAAAGAACCCCTGGA	0.373													T	10278042	G	T	10278042	3	4	88	1	0	0	0	0	1	0	0	0	3521	942	33	5	409	5	CLEC7A	12	10278042	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2032533	10278042	123573853	617	58039											
C12orf59	120939	broad.mit.edu	37	chr12	10339021	10339021	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtgggcttttgcaggtTgctagtggtaattggcgcgc	15	10	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:10339021T>C	uc001qxr.2	+	4	757	c.140T>C	c.(139-141)TTG>TCG	p.L47S	C12orf59_uc001qxq.2_Missense_Mutation_p.L27S			Q4KMG9	CL059_HUMAN	RecName: Full=Uncharacterized protein C12orf59; Flags: Precursor;	47	Helical; (Potential).					integral to membrane				ovary(1)	1						TTTTGCAGGTTGCTAGTGGTA	0.557													C	10339021	T	C	10339021	3	2	88	1	0	0	0	0	1	0	0	0	1702	1821	63	3	90	3	C12orf59	12	10339021	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	60979	10339021	123512874	618	58040											
CSDA	8531	broad.mit.edu	37	chr12	10865891	10865891	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgtaacgactcccttccacAggaactccatccgggccagt	9	16	0	0	rs138612290		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:10865891A>G	uc001qyt.2	-	5	735	c.492T>C	c.(490-492)CCT>CCC	p.P164P	CSDA_uc001qyu.2_Silent_p.P164P	NM_003651	NP_003642	P16989	DBPA_HUMAN	cold shock domain protein A isoform a	164					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|lung(1)|large_intestine(1)	4	Glioma(1;0.155)					TCCCTTCCACAGGAACTCCAT	0.493													G	10865891	A	G	10865891	2	3	88	1	0	0	0	0	0	0	0	1	3927	175	7	3		3	CSDA	12	10865891	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	526870	10865891	122986004	619	58041											
LMO3	55885	broad.mit.edu	37	chr12	16753742	16753742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gataccggtccttgatctttCggttgcagccagcacaacct	9	13	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:16753742C>T	uc001rdk.1	-	2	493	c.53G>A	c.(52-54)CGA>CAA	p.R18Q	LMO3_uc001rdj.1_Missense_Mutation_p.R29Q|LMO3_uc010shy.1_Missense_Mutation_p.R36Q|LMO3_uc001rdl.1_Missense_Mutation_p.R18Q|LMO3_uc009zii.1_RNA|LMO3_uc010shz.1_Missense_Mutation_p.R18Q|LMO3_uc001rdm.1_Missense_Mutation_p.R18Q|LMO3_uc001rdo.1_RNA|LMO3_uc001rdp.1_RNA|LMO3_uc001rdn.1_Missense_Mutation_p.R18Q|LMO3_uc009zij.1_RNA|LMO3_uc009zik.1_RNA	NM_018640	NP_061110	Q8TAP4	LMO3_HUMAN	LIM domain only 3	18	LIM zinc-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding				0		Hepatocellular(102;0.244)				CTTGATCTTTCGGTTGCAGCC	0.502													T	16753742	C	T	16753742	3	4	88	1	0	0	0	0	1	0	0	0	8853	884	31	1	396	1	LMO3	12	16753742	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	5887851	16753742	117098153	620	58042											
ABCC9	10060	broad.mit.edu	37	chr12	21965082	21965082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtctatcccatcaatgAcaatttttcctgttaaggag	6	8	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:21965082A>G	uc001rfi.1	-	34	4132	c.4112T>C	c.(4111-4113)GTC>GCC	p.V1371A	ABCC9_uc001rfh.2_Missense_Mutation_p.V1371A|ABCC9_uc001rfj.1_Missense_Mutation_p.V1335A	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1371	Cytoplasmic (Potential).|ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCCATCAATGACAATTTTTCC	0.328													G	21965082	A	G	21965082	3	3	88	1	0	0	0	0	1	0	0	0	59	275	10	3	699	3	ABCC9	12	21965082	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	5211340	21965082	111886813	621	58043											
CMAS	55907	broad.mit.edu	37	chr12	22213771	22213771	+	Frame_Shift_Del	DEL	A	A	-													ttatactacctttagggtggAaaaatggcatactacgaaat							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:22213770_22213770GA>G	uc001rfm.3	+	4	777	c.698_698GA>G	c.(697-699)ggafs	p.G233fs	CMAS_uc001rfn.3_Non-coding_Transcript	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	Homo sapiens cytidine monophosphate N-acetylneuraminic acid synthetase (CMAS), mRNA.	233					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTTTAGGGTGGAAAAATGGCA	0.303													-	22213771	A	-	22213771	7	5	88	1	0	1	0	1	0	0	0	0	3575	233	9	0	717	0	CMAS	12	22213771	Frame_Shift_Del	DEL	A	TCGA-BR-8382-01A-11D-2394-08	248689	22213771	111638124	622	58044											
PKP2	5318	broad.mit.edu	37	chr12	33030839	33030839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattcccacttccccctgcGgccgcctggccgacagtcaa	9	18	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:33030839G>A	uc001rlj.3	-	3	1090	c.975C>T	c.(973-975)GCC>GCT	p.A325A	PKP2_uc001rlk.3_Silent_p.A325A|PKP2_uc010skj.1_Silent_p.A325A	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	325					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TTCCCCCTGCGGCCGCCTGGC	0.622													A	33030839	G	A	33030839	2	1	88	1	0	0	0	0	0	0	0	1	11985	1103	39	1		1	PKP2	12	33030839	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	10817068	33030839	100821056	623	58045											
GXYLT1	283464	broad.mit.edu	37	chr12	42499816	42499817	+	Frame_Shift_Ins	INS	-	-	A													aatatcatcaactggtcgtaINSaaaaaaggatatcagtgtcg					rs78939583		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:42499815_42499816T>TA	uc001rms.4	-	4	893_894	c.668_669A>TA	c.(667-669)ttafs	p.L223fs	GXYLT1_uc001rmt.4_Frame_Shift_Ins_p.L192fs	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	223					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CAACTGGTCGTAAAAAAAGGAT	0.327													A	42499817	-	A	42499816	7	5	88	1	0	1	1	0	0	0	0	0	6903	372	13	0	670	0	GXYLT1	12	42499816	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	9468977	42499816	91352079	624	58046											
RAPGEF3	10411	broad.mit.edu	37	chr12	48141517	48141517	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaagctggtggccacaGggtcagtgtggagcatggag	20	6	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:48141517G>T	uc009zkp.2	-	13	1765	c.1325C>A	c.(1324-1326)CCT>CAT	p.P442H	RAPGEF3_uc001rpx.2_5'Flank|RAPGEF3_uc010sln.1_Missense_Mutation_p.P6H|RAPGEF3_uc001rpy.2_RNA|RAPGEF3_uc009zkq.2_Missense_Mutation_p.P442H|RAPGEF3_uc001rpz.3_Missense_Mutation_p.P484H|RAPGEF3_uc001rqa.2_Missense_Mutation_p.P6H	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor 3 isoform	442					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			lung(2)|skin(1)|pancreas(1)	4	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GGTGGCCACAGGGTCAGTGTG	0.632													T	48141517	G	T	48141517	3	4	88	1	0	0	0	0	1	0	0	0	13045	1000	35	5	1380	5	RAPGEF3	12	48141517	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	5641701	48141517	85710378	625	58047											
MLL2	8085	broad.mit.edu	37	chr12	49445500	49445500	+	Frame_Shift_Del	DEL	G	G	-													caggcgtgacaccacaggcaGgggggataggcgcgatacct							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:49445499_49445499AG>A	uc001rta.4	-	9	1967	c.1967_1967CT>T	c.(1966-1968)ctgfs	p.L656fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	656	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CACCACAGGCAGGGGGGATAG	0.642			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	49445500	G	-	49445500	7	5	88	1	0	1	0	1	0	0	0	0	9621	991	35	0	14827	0	MLL2	12	49445500	Frame_Shift_Del	DEL	G	TCGA-BR-8382-01A-11D-2394-08	1303983	49445500	84406395	626	58048											
FMNL3	91010	broad.mit.edu	37	chr12	50048048	50048048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaagttcatgtcctccaccGagtgcaccacgatgttgatg	11	11	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:50048048G>A	uc001ruv.1	-	11	1232	c.998C>T	c.(997-999)TCG>TTG	p.S333L	FMNL3_uc001ruw.1_Missense_Mutation_p.S282L|FMNL3_uc001rut.1_5'Flank|FMNL3_uc001ruu.1_Missense_Mutation_p.S183L	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	333	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4						GTCCTCCACCGAGTGCACCAC	0.567													A	50048048	G	A	50048048	3	1	88	1	0	0	0	0	1	0	0	0	5953	1059	37	1	2149	1	FMNL3	12	50048048	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	602548	50048048	83803847	627	58049											
CSRNP2	81566	broad.mit.edu	37	chr12	51461619	51461619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagcagggcccgtcgcCgtttggtgggcagaggctgc	16	14	1	1	rs148149139		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:51461619C>T	uc001rxu.1	-	4	843	c.545G>A	c.(544-546)CGG>CAG	p.R182Q		NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	TGF-beta induced apoptosis protein 12	182					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						GGCCCGTCGCCGTTTGGTGGG	0.537													T	51461619	C	T	51461619	3	4	88	1	0	0	0	0	1	0	0	0	3964	652	23	1	1094	1	CSRNP2	12	51461619	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1413571	51461619	82390276	628	58050											
AMHR2	269	broad.mit.edu	37	chr12	53818998	53818998	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctggggctgttcctcctcctCctgctgctgctgggcagcat	12	15	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:53818998C>G	uc001scx.1	+	4	552	c.474C>G	c.(472-474)CTC>CTG	p.L158L	AMHR2_uc009zmy.1_Silent_p.L158L	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II isoform	158	Helical; (Potential).				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			ovary(1)|skin(1)	2					Adenosine triphosphate(DB00171)	TCCTCCTCCTCCTGCTGCTGC	0.582									Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)				G	53818998	C	G	53818998	2	3	88	1	0	0	0	0	0	0	0	1	573	842	30	5		5	AMHR2	12	53818998	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2357379	53818998	80032897	629	58051											
ITGA7	3679	broad.mit.edu	37	chr12	56094925	56094925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgctgccttgcctcatatCggtgtgcacaggtctggggg	14	12	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:56094925C>T	uc001shh.2	-	4	648	c.428G>A	c.(427-429)CGA>CAA	p.R143Q	ITGA7_uc001shg.2_Missense_Mutation_p.R143Q|ITGA7_uc010sps.1_Missense_Mutation_p.R46Q|ITGA7_uc009znx.2_Missense_Mutation_p.R30Q	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	143	FG-GAP 2.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						TGCCTCATATCGGTGTGCACA	0.582													T	56094925	C	T	56094925	3	4	88	1	0	0	0	0	1	0	0	0	7881	884	31	1	3209	1	ITGA7	12	56094925	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2275927	56094925	77756970	630	58052											
ERBB3	2065	broad.mit.edu	37	chr12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccattgcccaacctccgcGtggtgcgagggacccaggtc	12	15	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:56478854G>A	uc001sjh.2	+	3	503	c.310G>A	c.(310-312)GTG>ATG	p.V104M	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45M|ERBB3_uc001sjg.2_Missense_Mutation_p.V104M	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	104	Extracellular (Potential).		V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).		cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.V104M(1)		lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517													A	56478854	G	A	56478854	3	1	88	1	0	0	0	0	1	0	0	0	5208	1145	40	1	320	1	ERBB3	12	56478854	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	383929	56478854	77373041	631	58053											
ERBB3	2065	broad.mit.edu	37	chr12	56487212	56487212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggaaattagtgctgggcGtatctatataagtgccaata	11	5	1	0	rs144549266	by1000genomes	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:56487212G>A	uc001sjh.2	+	12	1551	c.1358G>A	c.(1357-1359)CGT>CAT	p.R453H	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.R394H|ERBB3_uc009zok.2_5'Flank|ERBB3_uc001sjk.2_5'Flank|ERBB3_uc001sjj.1_Missense_Mutation_p.R21H	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	453	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGTGCTGGGCGTATCTATATA	0.493													A	56487212	G	A	56487212	3	1	88	1	0	0	0	0	1	0	0	0	5208	1145	40	1	1535	1	ERBB3	12	56487212	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	8358	56487212	77364683	632	58054											
ARHGAP9	64333	broad.mit.edu	37	chr12	57869299	57869299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgaggcgcagcagcgGcttggacaccagctccgact	14	14	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:57869299G>A	uc001sod.2	-	14	1874	c.1681C>T	c.(1681-1683)CCG>TCG	p.P561S	ARHGAP9_uc001sny.2_5'Flank|ARHGAP9_uc001snz.2_Missense_Mutation_p.P287S|ARHGAP9_uc001soa.2_Missense_Mutation_p.P160S|ARHGAP9_uc001sob.2_Missense_Mutation_p.P471S|ARHGAP9_uc001soc.2_Missense_Mutation_p.P471S|ARHGAP9_uc001soe.1_Missense_Mutation_p.P550S	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9 isoform 1	490					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			lung(1)	1			GBM - Glioblastoma multiforme(3;3.37e-34)			CGCAGCAGCGGCTTGGACACC	0.731													A	57869299	G	A	57869299	3	1	88	1	0	0	0	0	1	0	0	0	889	1203	42	2	816	2	ARHGAP9	12	57869299	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1382087	57869299	75982596	633	58055											
DTX3	196403	broad.mit.edu	37	chr12	58001201	58001201	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgccggcattcattctgCgagggctgcatcacccgggc	13	13	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:58001201C>T	uc001sow.1	+	5	892	c.555C>T	c.(553-555)TGC>TGT	p.C185C	DTX3_uc001sov.1_Silent_p.C178C|DTX3_uc001sox.1_Silent_p.C178C|DTX3_uc001soy.1_Silent_p.C178C|GEFT_uc009zpy.2_5'Flank|GEFT_uc001soz.1_5'Flank	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN	deltex homolog 3	185	RING-type.				Notch signaling pathway	cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)	2	Melanoma(17;0.122)					ATTCATTCTGCGAGGGCTGCA	0.602													T	58001201	C	T	58001201	2	4	88	1	0	0	0	0	0	0	0	1	4795	776	27	1		1	DTX3	12	58001201	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	131902	58001201	75850694	634	58056											
ZFC3H1	196441	broad.mit.edu	37	chr12	72026034	72026034	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaacatcattttcttcAgtgtccagggttaatttatc	5	9	5	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:72026034A>C	uc001swo.2	-	15	3437	c.3078T>G	c.(3076-3078)ACT>ACG	p.T1026T		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	1026					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						CATTTTCTTCAGTGTCCAGGG	0.358													C	72026034	A	C	72026034	2	2	88	1	0	0	0	0	0	0	0	1	17630	175	7	5		5	ZFC3H1	12	72026034	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	14024833	72026034	61825861	635	58057											
NAV3	89795	broad.mit.edu	37	chr12	78531042	78531042	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagcccaagactcttccttCgatctctatgatgactccca	5	16	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:78531042C>T	uc001syp.2	+	19	4700	c.4527C>T	c.(4525-4527)TTC>TTT	p.F1509F	NAV3_uc001syo.2_Silent_p.F1509F|NAV3_uc010sub.1_Silent_p.F995F|NAV3_uc009zsf.2_Silent_p.F340F	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1509	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						ACTCTTCCTTCGATCTCTATG	0.502										HNSCC(70;0.22)			T	78531042	C	T	78531042	2	4	88	1	0	0	0	0	0	0	0	1	10185	883	31	1		1	NAV3	12	78531042	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	6505008	78531042	55320853	636	58058											
CCDC59	29080	broad.mit.edu	37	chr12	82750907	82750907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctatgtctttcctcttcaGctaaatagagatgtttcaga	6	9	4	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:82750907G>A	uc001szp.3	-	2	340	c.296C>T	c.(295-297)GCT>GTT	p.A99V	C12orf26_uc001szq.2_5'Flank	NM_014167	NP_054886	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding				0						TTCCTCTTCAGCTAAATAGAG	0.418													A	82750907	G	A	82750907	3	1	88	1	0	0	0	0	1	0	0	0	2829	971	34	2	441	2	CCDC59	12	82750907	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	4219865	82750907	51100988	637	58059											
DCN	1634	broad.mit.edu	37	chr12	91546948	91546948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccatcaagatgtaattccGtaagggaaggaggaagacct	12	7	1	2	rs144174426		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:91546948G>A	uc001tbs.2	-	5	765	c.671C>T	c.(670-672)ACG>ATG	p.T224M	DCN_uc001tbo.2_Missense_Mutation_p.T115M|DCN_uc001tbp.2_Missense_Mutation_p.T77M|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Missense_Mutation_p.T224M|DCN_uc001tbu.2_Missense_Mutation_p.T224M	NM_133503	NP_598010	P07585	PGS2_HUMAN	decorin isoform a preproprotein	224	LRR 7.				organ morphogenesis	extracellular space				central_nervous_system(2)|ovary(1)|lung(1)	4						ATGTAATTCCGTAAGGGAAGG	0.348													A	91546948	G	A	91546948	3	1	88	1	0	0	0	0	1	0	0	0	4297	1145	40	1	420	1	DCN	12	91546948	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	8796041	91546948	42304947	638	58060											
PLXNC1	10154	broad.mit.edu	37	chr12	94563012	94563012	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacatccgtttatggcacCgtggtaatgaacaggactgt	11	9	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:94563012C>T	uc001tdc.2	+	2	1395	c.1146C>T	c.(1144-1146)ACC>ACT	p.T382T		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	382	Extracellular (Potential).|Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						TTTATGGCACCGTGGTAATGA	0.433													T	94563012	C	T	94563012	2	4	88	1	0	0	0	0	0	0	0	1	12126	639	23	1		1	PLXNC1	12	94563012	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	3016064	94563012	39288883	639	58061											
PAH	5053	broad.mit.edu	37	chr12	103246714	103246714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagccacaggtcggaggcGgaaaccagtgcaagctggga	16	11	0	0	rs76687508		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:103246714G>A	uc001tjq.1	-	8	1193	c.721C>T	c.(721-723)CGC>TGC	p.R241C		NM_000277	NP_000268	P00439	PH4H_HUMAN	phenylalanine hydroxylase	241			R -> C (in non-PKU HPA and PKU; haplotype 34).|R -> H (in PKU; haplotypes 1,5).|R -> L (in PKU).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GGTCGGAGGCGGAAACCAGTG	0.517													A	103246714	G	A	103246714	3	1	88	1	0	0	0	0	1	0	0	0	11394	1116	39	1	665	1	PAH	12	103246714	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	8683702	103246714	30605181	640	58062											
BTBD11	121551	broad.mit.edu	37	chr12	108004005	108004005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatctcgaaagctggatgCggtggccatcgaagccaagt	13	10	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:108004005C>T	uc001tmk.1	+	5	2203	c.1682C>T	c.(1681-1683)GCG>GTG	p.A561V	BTBD11_uc009zut.1_Missense_Mutation_p.A561V|BTBD11_uc001tmj.2_Missense_Mutation_p.A561V|BTBD11_uc001tml.1_Missense_Mutation_p.A98V	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	561						integral to membrane	DNA binding			skin(2)|ovary(1)	3						AAGCTGGATGCGGTGGCCATC	0.582											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	108004005	C	T	108004005	3	4	88	1	0	0	0	0	1	0	0	0	1539	768	27	1	1805	1	BTBD11	12	108004005	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	4757291	108004005	25847890	641	58063											
SELPLG	6404	broad.mit.edu	37	chr12	109017883	109017883	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtcagaggagtggtgtcAgtgctgttcctcagcatttc	12	10	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:109017883A>C	uc001tni.2	-	2	361	c.201T>G	c.(199-201)ACT>ACG	p.T67T	SELPLG_uc001tnh.2_Silent_p.T67T|SELPLG_uc010sxe.1_Silent_p.T83T	NM_003006	NP_002997	Q14242	SELPL_HUMAN	selectin P ligand	67	Extracellular (Potential).				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding				0						GAGTGGTGTCAGTGCTGTTCC	0.582													C	109017883	A	C	109017883	2	2	88	1	0	0	0	0	0	0	0	1	14020	175	7	5		5	SELPLG	12	109017883	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	1013878	109017883	24834012	642	58064											
MMAB	326625	broad.mit.edu	37	chr12	109998868	109998868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcggcccggcggcacacGgcccggcagaaatgcagcgc	14	17	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:109998868G>A	uc001tou.2	-	7	634	c.561C>T	c.(559-561)GCC>GCT	p.A187A	MMAB_uc001tov.2_RNA|MMAB_uc001tow.2_RNA|MMAB_uc010sxq.1_Silent_p.A96A|MMAB_uc001tox.2_Silent_p.A135A	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN	cob(I)alamin adenosyltransferase precursor	187					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity				0					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGCGGCACACGGCCCGGCAGA	0.438													A	109998868	G	A	109998868	2	1	88	1	0	0	0	0	0	0	0	1	9640	1103	39	1		1	MMAB	12	109998868	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	980985	109998868	23853027	643	58065											
ANKRD13A	88455	broad.mit.edu	37	chr12	110461908	110461908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaagttgttaatggttaCgaagcaaaggtaaaaggaaa	12	3	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:110461908C>T	uc001tpx.2	+	7	1051	c.792C>T	c.(790-792)TAC>TAT	p.Y264Y	ANKRD13A_uc009zvl.1_Intron|ANKRD13A_uc010sxw.1_Silent_p.Y264Y|ANKRD13A_uc001tpy.2_5'Flank	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13	264											0						TTAATGGTTACGAAGCAAAGG	0.343													T	110461908	C	T	110461908	2	4	88	1	0	0	0	0	0	0	0	1	641	547	19	1		1	ANKRD13A	12	110461908	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	463040	110461908	23389987	644	58066											
TBX3	6926	broad.mit.edu	37	chr12	115114185	115114185	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgaagcagttgaaagcTgcttgttcactggaggactc	14	8	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:115114185T>C	uc001tvt.1	-	6	1996	c.1032A>G	c.(1030-1032)GCA>GCG	p.A344A	TBX3_uc001tvu.1_Silent_p.A324A	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	344					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			ovary(2)|skin(1)	3	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		AGTTGAAAGCTGCTTGTTCAC	0.507													C	115114185	T	C	115114185	2	2	88	1	0	0	0	0	0	0	0	1	15656	1567	55	3		3	TBX3	12	115114185	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	4652277	115114185	18737710	645	58067											
BCL7A	605	broad.mit.edu	37	chr12	122468634	122468634	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgggtgaccgttggtgacAcatccctacgaatctacaaa	9	10	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:122468634A>G	uc001ubp.2	+	2	258	c.121A>G	c.(121-123)ACA>GCA	p.T41A	BCL7A_uc001ubo.2_Missense_Mutation_p.T41A	NM_001024808	NP_001019979	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A isoform b	41					negative regulation of transcription, DNA-dependent					ovary(1)|lung(1)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		CGTTGGTGACACATCCCTACG	0.587			T	MYC	BNHL								G	122468634	A	G	122468634	3	3	88	1	0	0	0	0	1	0	0	0	1378	159	6	3	127	3	BCL7A	12	122468634	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	7354449	122468634	11383261	646	58068											
SBNO1	55206	broad.mit.edu	37	chr12	123810761	123810761	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaactttggatgctatgcAtaagtatttgaagaacctct	7	6	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:123810761A>G	uc010tap.1	-	13	1813	c.1813T>C	c.(1813-1815)TGC>CGC	p.C605R	SBNO1_uc010tao.1_Missense_Mutation_p.C604R|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.C605R|SBNO1_uc001ueu.2_Missense_Mutation_p.C604R|SBNO1_uc001uev.2_Missense_Mutation_p.C603R|SBNO1_uc009zxy.1_Missense_Mutation_p.C570R	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	605							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GATGCTATGCATAAGTATTTG	0.423													G	123810761	A	G	123810761	3	3	88	1	0	0	0	0	1	0	0	0	13862	217	8	3	2444	3	SBNO1	12	123810761	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	1342127	123810761	10041134	647	58069											
DNAH10	196385	broad.mit.edu	37	chr12	124409684	124409684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagaagttgcttattttgCgctgtttccgtgtggatcgg	12	8	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:124409684C>T	uc001uft.3	+	67	11525	c.11500C>T	c.(11500-11502)CGC>TGC	p.R3834C	DNAH10_uc001ufu.3_5'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3834	TPR 4.				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTTATTTTGCGCTGTTTCCG	0.478													T	124409684	C	T	124409684	3	4	88	1	0	0	0	0	1	0	0	0	4598	768	27	1	11766	1	DNAH10	12	124409684	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	598923	124409684	9442211	648	58070											
CHFR	55743	broad.mit.edu	37	chr12	133438121	133438121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccaacgacgaaaaggacGcagtctttctgtctgggaga	12	9	3	1	rs150995074	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:133438121G>A	uc001ulf.2	-	7	803	c.719C>T	c.(718-720)GCG>GTG	p.A240V	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.A228V|CHFR_uc010tbs.1_Missense_Mutation_p.A240V|CHFR_uc001uld.2_Missense_Mutation_p.A199V|CHFR_uc010tbt.1_Missense_Mutation_p.A148V	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	240					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CGAAAAGGACGCAGTCTTTCT	0.542													A	133438121	G	A	133438121	3	1	88	1	0	0	0	0	1	0	0	0	3337	1087	38	1	1323	1	CHFR	12	133438121	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	9028437	133438121	413774	649	58071											
XPO4	64328	broad.mit.edu	37	chr13	21417071	21417071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagctcaagacttgattGgcgagtgcaaggtaacgctg	12	9	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:21417071G>A	uc001unq.3	-	6	726	c.690C>T	c.(688-690)GCC>GCT	p.A230A	XPO4_uc010tcr.1_Silent_p.A156A	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	230					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AGACTTGATTGGCGAGTGCAA	0.388													A	21417071	G	A	21417071	2	1	88	1	0	0	0	0	0	0	0	1	17443	1335	47	4		4	XPO4	13	21417071	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08		21417071	93752807	650	58072											
SACS	26278	broad.mit.edu	37	chr13	23915417	23915417	+	Frame_Shift_Del	DEL	T	T	-													ggtaatggtgaatgaatataTtttttaataagcggatgttg							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:23915416_23915416AT>A	uc001uon.2	-	9	3188	c.2599_2599AT>T	c.(2599-2601)tatfs	p.Y867fs	SACS_uc001uoo.2_Frame_Shift_Del_p.Y720fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	867					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAATGAATATATTTTTTAATA	0.343													-	23915417	T	-	23915417	7	5	88	1	0	1	0	1	0	0	0	0	13804	1490	52	0	11145	0	SACS	13	23915417	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	2498346	23915417	91254461	651	58073											
PAN3	255967	broad.mit.edu	37	chr13	28866563	28866563	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataagcctgatttccagagaTgagaagagtgtacttgtggt	12	5	0	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:28866563T>C	uc001urz.2	+	18	2138	c.2130T>C	c.(2128-2130)GAT>GAC	p.D710D	PAN3_uc001ury.2_Silent_p.D544D|PAN3_uc001urx.2_Silent_p.D656D	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	856	Interaction with PAN2.			D -> G (in Ref. 5; BAD02262/BAD93184).	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TTTCCAGAGATGAGAAGAGTG	0.358													C	28866563	T	C	28866563	2	2	88	1	0	0	0	0	0	0	0	1	11415	1461	51	3		3	PAN3	13	28866563	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	4951146	28866563	86303315	652	58074											
MTUS2	23281	broad.mit.edu	37	chr13	29600668	29600668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaaggacacaccttcctcGcaggagggaatggagaacta	11	11	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:29600668G>A	uc001usl.3	+	1	1921	c.1863G>A	c.(1861-1863)TCG>TCA	p.S621S		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	611						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						CACCTTCCTCGCAGGAGGGAA	0.517													A	29600668	G	A	29600668	2	1	88	1	0	0	0	0	0	0	0	1	9966	1074	38	1		1	MTUS2	13	29600668	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	734105	29600668	85569210	653	58075											
STARD13	90627	broad.mit.edu	37	chr13	33701564	33701564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccatgatggccgtgaggCggagcagtgagaagcgctgg	17	9	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:33701564C>T	uc001uuw.2	-	6	1994	c.1868G>A	c.(1867-1869)CGC>CAC	p.R623H	STARD13_uc001uuu.2_Missense_Mutation_p.R615H|STARD13_uc001uuv.2_Missense_Mutation_p.R505H|STARD13_uc001uux.2_Missense_Mutation_p.R588H|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.R608H	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	623					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGCCGTGAGGCGGAGCAGTGA	0.632													T	33701564	C	T	33701564	3	4	88	1	0	0	0	0	1	0	0	0	15255	768	27	1	1509	1	STARD13	13	33701564	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	4100896	33701564	81468314	654	58076											
POSTN	10631	broad.mit.edu	37	chr13	38164611	38164611	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcgtcagaatagcgctgCgttgtggtggctcccacgat	15	10	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:38164611C>T	uc001uwo.3	-	4	457	c.339G>A	c.(337-339)ACG>ACA	p.T113T	POSTN_uc001uwp.3_Silent_p.T113T|POSTN_uc001uwr.2_Silent_p.T113T|POSTN_uc001uwq.2_Silent_p.T113T|POSTN_uc010teu.1_Silent_p.T113T|POSTN_uc010tev.1_Silent_p.T113T|POSTN_uc010tew.1_Silent_p.T113T|POSTN_uc010tex.1_Silent_p.T28T	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	113	FAS1 1.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AATAGCGCTGCGTTGTGGTGG	0.468													T	38164611	C	T	38164611	2	4	88	1	0	0	0	0	0	0	0	1	12259	755	27	1		1	POSTN	13	38164611	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	4463047	38164611	77005267	655	58077											
TRPC4	7223	broad.mit.edu	37	chr13	38357396	38357396	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatggcgagagttctgattcTgctcttactatccttagagg	11	8	3	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:38357396T>C	uc001uws.2	-	2	310	c.75A>G	c.(73-75)GCA>GCG	p.A25A	TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Silent_p.A25A|TRPC4_uc010tey.1_Silent_p.A25A|TRPC4_uc010abw.2_Silent_p.A25A|TRPC4_uc010abx.2_Silent_p.A25A|TRPC4_uc010aby.2_Silent_p.A25A	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	25	Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GTTCTGATTCTGCTCTTACTA	0.403													C	38357396	T	C	38357396	2	2	88	1	0	0	0	0	0	0	0	1	16577	1567	55	3		3	TRPC4	13	38357396	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	192785	38357396	76812482	656	58078											
ZC3H13	23091	broad.mit.edu	37	chr13	46542002	46542002	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcggtcccattctctctGcctcgtatctctcctctctc	4	18	5	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:46542002G>A	uc010tfw.1	-	14	3964	c.3958C>T	c.(3958-3960)CAG>TAG	p.Q1320*	ZC3H13_uc001vaq.2_5'UTR|ZC3H13_uc001vas.1_Nonsense_Mutation_p.Q1320*	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1320	Potential.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		cattctctctgcctcgtatct	0.139													A	46542002	G	A	46542002	4	1	88	1	0	0	0	0	0	1	0	0	17562	1328	46	2	748	2	ZC3H13	13	46542002	Nonsense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	8184606	46542002	68627876	657	58079											
ATP7B	540	broad.mit.edu	37	chr13	52518300	52518300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgttcactgctggcctccGcagtccccaccacagccaga	10	17	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:52518300G>A	uc001vfw.2	-	14	3345	c.3188C>T	c.(3187-3189)GCG>GTG	p.A1063V	ATP7B_uc010adv.2_Missense_Mutation_p.A633V|ATP7B_uc001vfx.2_Missense_Mutation_p.A856V|ATP7B_uc001vfy.2_Missense_Mutation_p.A952V|ATP7B_uc010tgt.1_Missense_Mutation_p.A998V|ATP7B_uc010tgu.1_Missense_Mutation_p.A1015V|ATP7B_uc010tgv.1_Missense_Mutation_p.A985V|ATP7B_uc001vfv.2_Missense_Mutation_p.A335V|ATP7B_uc010tgs.1_Intron	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1063	Cytoplasmic (Potential).		A -> V (in WD; could be a polymorphism).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GCTGGCCTCCGCAGTCCCCAC	0.637									Wilson_disease				A	52518300	G	A	52518300	3	1	88	1	0	0	0	0	1	0	0	0	1191	1087	38	1	1241	1	ATP7B	13	52518300	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	5976298	52518300	62651578	658	58080											
HNRNPA1L2	144983	broad.mit.edu	37	chr13	53216744	53216744	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattttgagcaatggggaacGctcacagactgtgtggtaat	12	7	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:53216744G>A	uc001vgx.1	+	7	1190	c.117G>A	c.(115-117)ACG>ACA	p.T39T	HNRNPA1L2_uc001vgy.1_Silent_p.T39T|HNRNPA1L2_uc001vgz.1_Silent_p.T39T	NM_001011724	NP_001011724	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like	39	Globular A domain.|RRM 1.				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding				0						AATGGGGAACGCTCACAGACT	0.512													A	53216744	G	A	53216744	2	1	88	1	0	0	0	0	0	0	0	1	7258	1074	38	1		1	HNRNPA1L2	13	53216744	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	698444	53216744	61953134	659	58081											
PCDH17	27253	broad.mit.edu	37	chr13	58299326	58299326	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcttgaccaccccaacagGgatctgggcagagagtctgt	12	12	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:58299326G>T	uc001vhq.1	+	4	4270	c.3378G>T	c.(3376-3378)AGG>AGT	p.R1126S	PCDH17_uc010aec.1_Missense_Mutation_p.R1125S|PCDH17_uc001vhr.1_Missense_Mutation_p.R215S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	1126	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACCCCAACAGGGATCTGGGCA	0.532													T	58299326	G	T	58299326	3	4	88	1	0	0	0	0	1	0	0	0	11512	1223	43	5	3392	5	PCDH17	13	58299326	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	5082582	58299326	56870552	660	58082											
TBC1D4	9882	broad.mit.edu	37	chr13	76055811	76055811	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccggaaccgcttatcgctTggcttcccggggccgggctg	15	14	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:76055811T>C	uc001vjl.1	-	1	440	c.93A>G	c.(91-93)CCA>CCG	p.P31P	TBC1D4_uc010aer.2_Silent_p.P31P|TBC1D4_uc010aes.2_Silent_p.P31P	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	31						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GCTTATCGCTTGGCTTCCCGG	0.682													C	76055811	T	C	76055811	2	2	88	1	0	0	0	0	0	0	0	1	15619	1799	63	3		3	TBC1D4	13	76055811	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	17756485	76055811	39114067	661	58083											
SLITRK6	84189	broad.mit.edu	37	chr13	86368486	86368486	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcctgttccaaaagacTtctttggagatgttttgcat	7	7	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:86368486T>G	uc001vll.1	-	2	2617	c.2158A>C	c.(2158-2160)AGT>CGT	p.S720R	SLITRK6_uc010afe.1_Missense_Mutation_p.S173R	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	720	Cytoplasmic (Potential).					integral to membrane		p.S720C(1)		large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCCAAAAGACTTCTTTGGAGA	0.398													G	86368486	T	G	86368486	3	3	88	1	0	0	0	0	1	0	0	0	14747	1609	56	5	371	5	SLITRK6	13	86368486	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	10312675	86368486	28801392	662	58084											
SLITRK5	26050	broad.mit.edu	37	chr13	88330473	88330473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaaactaaacgttgagccgGactacctcgaagtgctggaa	10	10	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:88330473G>A	uc001vln.2	+	2	3049	c.2830G>A	c.(2830-2832)GAC>AAC	p.D944N	SLITRK5_uc010tic.1_Missense_Mutation_p.D703N	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	944	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CGTTGAGCCGGACTACCTCGA	0.463													A	88330473	G	A	88330473	3	1	88	1	0	0	0	0	1	0	0	0	14746	1174	41	4	2832	4	SLITRK5	13	88330473	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1961987	88330473	26839405	663	58085											
SOX21	11166	broad.mit.edu	37	chr13	95364182	95364182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttccactcggcgcccaagCgcttgctgatctccgagttg	11	14	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:95364182C>T	uc001vma.2	-	1	208	c.122G>A	c.(121-123)CGC>CAC	p.R41H	uc001vmb.1_5'Flank	NM_007084	NP_009015	Q9Y651	SOX21_HUMAN	SRY-box 21	41	HMG box.			R -> P (in Ref. 4; CAA50466).	regulation of transcription from RNA polymerase II promoter|stem cell differentiation	nucleus	DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity				0	all_neural(89;0.0646)|Medulloblastoma(90;0.163)					GGCGCCCAAGCGCTTGCTGAT	0.627													T	95364182	C	T	95364182	3	4	88	1	0	0	0	0	1	0	0	0	14950	768	27	1	712	1	SOX21	13	95364182	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	7033709	95364182	19805696	664	58086											
FARP1	10160	broad.mit.edu	37	chr13	99093014	99093014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcgccaggccccgcaccGcggcaacacaatggtgcacg	14	16	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:99093014G>A	uc001vnj.2	+	24	3056	c.2720G>A	c.(2719-2721)CGC>CAC	p.R907H	FARP1_uc001vnh.2_Missense_Mutation_p.R938H	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	907					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GCCCCGCACCGCGGCAACACA	0.647													A	99093014	G	A	99093014	3	1	88	1	0	0	0	0	1	0	0	0	5676	1087	38	1	3033	1	FARP1	13	99093014	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	3728832	99093014	16076864	665	58087											
TPP2	7174	broad.mit.edu	37	chr13	103288709	103288709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaccttcagatcatggcGttggcattgaacctgtattt	9	10	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:103288709G>A	uc001vpi.3	+	13	1748	c.1645G>A	c.(1645-1647)GTT>ATT	p.V549I		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	549					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGATCATGGCGTTGGCATTGA	0.423													A	103288709	G	A	103288709	3	1	88	1	0	0	0	0	1	0	0	0	16409	1145	40	1	1695	1	TPP2	13	103288709	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	4195695	103288709	11881169	666	58088											
ERCC5	2073	broad.mit.edu	37	chr13	103459756	103459756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcaggagcacccttgggtCccaaaggagatggtcattat	11	11	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:103459756C>T	uc001vpu.1	+	1	261	c.139C>T	c.(139-141)CCC>TCC	p.P47S	BIVM_uc001vps.2_Missense_Mutation_p.P47S|BIVM_uc010agc.2_Intron|BIVM_uc001vpt.2_Missense_Mutation_p.P47S	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	Error:Variant_position_missing_in_P28715_after_alignment					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACCCTTGGGTCCCAAAGGAGA	0.463			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				T	103459756	C	T	103459756	3	4	88	1	0	0	0	0	1	0	0	0	5216	855	30	4		4	ERCC5	13	103459756	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	171047	103459756	11710122	667	58089											
CARS2	79587	broad.mit.edu	37	chr13	111303398	111303398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgagcggtagctgctcCgcaggcagaagaaccggaag	14	12	0	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:111303398C>T	uc001vrd.2	-	10	1077	c.1037G>A	c.(1036-1038)CGG>CAG	p.R346Q	CARS2_uc010tjm.1_RNA	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial	346					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding				0	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GTAGCTGCTCCGCAGGCAGAA	0.562													T	111303398	C	T	111303398	3	4	88	1	0	0	0	0	1	0	0	0	2658	652	23	1	681	1	CARS2	13	111303398	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	7843642	111303398	3866480	668	58090											
MCF2L	23263	broad.mit.edu	37	chr13	113742894	113742894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagccagccagcaccgggCgctggagcagtcacagagcc	14	14	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:113742894C>T	uc001vsu.2	+	25	2979	c.2957C>T	c.(2956-2958)GCG>GTG	p.A986V	MCF2L_uc001vsq.2_Missense_Mutation_p.A986V|MCF2L_uc010tjr.1_Missense_Mutation_p.A929V|MCF2L_uc001vsr.2_Missense_Mutation_p.A933V|MCF2L_uc001vss.3_Missense_Mutation_p.A927V|MCF2L_uc010tjs.1_Missense_Mutation_p.A927V	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	959					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CAGCACCGGGCGCTGGAGCAG	0.657													T	113742894	C	T	113742894	3	4	88	1	0	0	0	0	1	0	0	0	9379	768	27	1	3150	1	MCF2L	13	113742894	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2439496	113742894	1426984	669	58091											
PROZ	8858	broad.mit.edu	37	chr13	113812986	113812986	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtgggaatggcaggctgCgtcccactgctccagggcct	16	13	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:113812986C>T	uc001vta.1	+	1	19	c.12C>T	c.(10-12)TGC>TGT	p.C4C	PROZ_uc010agr.1_Silent_p.C4C	NM_003891	NP_003882	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma	4					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TGGCAGGCTGCGTCCCACTGC	0.662													T	113812986	C	T	113812986	2	4	88	1	0	0	0	0	0	0	0	1	12562	776	27	1		1	PROZ	13	113812986	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	70092	113812986	1356892	670	58092											
CDC16	8881	broad.mit.edu	37	chr13	115037720	115037720	+	Frame_Shift_Del	DEL	A	A	-													gtgcatacaatgaagacactAaaaaacattatttcacctcc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:115037719_115037719TA>T	uc001vuk.1	+	17	1862	c.1664_1664TA>T	c.(1663-1665)ctafs	p.L555fs	CDC16_uc001vul.1_Frame_Shift_Del_p.L555fs|CDC16_uc001vum.1_Frame_Shift_Del_p.L461fs|CDC16_uc001vun.1_Frame_Shift_Del_p.L554fs|CDC16_uc001vuo.1_Frame_Shift_Del_p.L503fs	NM_003903	NP_003894	Q13042	CDC16_HUMAN	Homo sapiens cell division cycle 16 homolog (S. cerevisiae) (CDC16), transcript variant 1, mRNA.	555					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			ATGAAGACACTAAAAAACATT	0.328													-	115037720	A	-	115037720	7	5	88	1	0	1	0	1	0	0	0	0	3058	349	13	0	1735	0	CDC16	13	115037720	Frame_Shift_Del	DEL	A	TCGA-BR-8382-01A-11D-2394-08	1224734	115037720	132158	671	58093											
OR5AU1	390445	broad.mit.edu	37	chr14	21623694	21623694	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccatggcagcgatgagaTagcactcactggtggcaaaa	13	9	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:21623694T>C	uc010tlp.1	-	1	491	c.491A>G	c.(490-492)TAT>TGT	p.Y164C		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU,	164	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		AGCGATGAGATAGCACTCACT	0.507													C	21623694	T	C	21623694	3	2	88	1	0	0	0	0	1	0	0	0	11147	1406	49	3	600	3	OR5AU1	14	21623694	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08		21623694	85725846	672	58094											
MYH7	4625	broad.mit.edu	37	chr14	23886806	23886806	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcgatctcattctgtagcCggtgcttggtcttctccagc	9	14	4	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:23886806C>A	uc001wjx.2	-	31	4365	c.4259G>T	c.(4258-4260)CGG>CTG	p.R1420L		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1420	Potential.		R -> W (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATTCTGTAGCCGGTGCTTGGT	0.602													A	23886806	C	A	23886806	3	1	88	1	0	0	0	0	1	0	0	0	10039	652	23	5	1588	5	MYH7	14	23886806	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2263112	23886806	83462734	673	58095											
NGDN	25983	broad.mit.edu	37	chr14	23945486	23945486	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagaagaagcgtctagaaCgagccaagagacgggcattg	16	7	1	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:23945486C>T	uc001wjy.2	+	8	610	c.583C>T	c.(583-585)CGA>TGA	p.R195*	NGDN_uc001wjz.2_Nonsense_Mutation_p.R195*|NGDN_uc001wka.2_RNA	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN	neuroguidin isoform 1	195	Potential.				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus					0	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCGTCTAGAACGAGCCAAGAG	0.473													T	23945486	C	T	23945486	4	4	88	1	0	0	0	0	0	1	0	0	10393	528	19	1	613	1	NGDN	14	23945486	Nonsense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	58680	23945486	83404054	674	58096											
IPO4	79711	broad.mit.edu	37	chr14	24656743	24656743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggtggggttggaaggcctCgggccgggaggtcaccacca	19	10	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:24656743C>T	uc001wmv.1	-	6	582	c.451G>A	c.(451-453)GAG>AAG	p.E151K	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmx.1_Missense_Mutation_p.E15K|IPO4_uc001wmy.1_Missense_Mutation_p.E15K|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Missense_Mutation_p.E151K	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	importin 4	151					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			kidney(1)	1				GBM - Glioblastoma multiforme(265;0.0087)		TGGAAGGCCTCGGGCCGGGAG	0.582													T	24656743	C	T	24656743	3	4	88	1	0	0	0	0	1	0	0	0	7795	893	31	1	2894	1	IPO4	14	24656743	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	711257	24656743	82692797	675	58097											
LTB4R2	56413	broad.mit.edu	37	chr14	24780905	24780905	+	Frame_Shift_Del	DEL	G	G	-													ggccgcggcaatggagacccGgggggtgggatggagaagga							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:24780904_24780904CG>C	uc021rrp.1	+	0	1034	c.1034_1034CG>C	c.(1033-1035)ccgfs	p.P345fs	CIDEB_uc001woo.3_5'Flank|CIDEB_uc001wop.3_5'Flank|LTB4R2_uc010alo.3_Frame_Shift_Del_p.P345fs|LTB4R2_uc001wor.3_Frame_Shift_Del_p.P345fs|LTB4R_uc001wos.3_5'UTR|LTB4R_uc010alp.3_5'Flank	NM_019839	NP_062813	Q9NPC1	LT4R2_HUMAN	Homo sapiens leukotriene B4 receptor 2 (LTB4R2), transcript variant 1, mRNA.	376					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		AATGGAGACCCGGGGGGTGGG	0.672													-	24780905	G	-	24780905	7	5	88	1	0	1	0	1	0	0	0	0	9072	1103	39	0	1037	0	LTB4R2	14	24780905	Frame_Shift_Del	DEL	G	TCGA-BR-8382-01A-11D-2394-08	124162	24780905	82568635	676	58098											
PRKD1	5587	broad.mit.edu	37	chr14	30047479	30047479	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactcagtgattattgtttAcctgtagccaagggtggctc	10	8	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:30047479A>G	uc001wqh.2	-	17	2701	c.2520_splice	c.e17+1	p.Q840_splice		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1						cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ATTATTGTTTACCTGTAGCCA	0.308													G	30047479	A	G	30047479	5	3	88	1	0	0	0	0	0	0	1	0	12518	405	14	3	224	3	PRKD1	14	30047479	Splice_Site	SNP	A	TCGA-BR-8382-01A-11D-2394-08	5266574	30047479	77302061	677	58099											
HECTD1	25831	broad.mit.edu	37	chr14	31592134	31592134	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctaccataacctcctcgtAttcttggtcctcctgattgt	5	14	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:31592134A>G	uc001wrc.1	-	27	5590	c.5101T>C	c.(5101-5103)TAC>CAC	p.Y1701H	HECTD1_uc001wra.1_5'UTR|HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.Y1169H	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1701					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ACCTCCTCGTATTCTTGGTCC	0.393													G	31592134	A	G	31592134	3	3	88	1	0	0	0	0	1	0	0	0	7039	449	16	3	2799	3	HECTD1	14	31592134	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	1544655	31592134	75757406	678	58100											
HECTD1	25831	broad.mit.edu	37	chr14	31619373	31619373	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgattgaccagtctctccAatgatatggtttaccttgtt	7	8	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:31619373A>G	uc001wrc.1	-	13	2476	c.1987T>C	c.(1987-1989)TGG>CGG	p.W663R	HECTD1_uc001wrd.1_Missense_Mutation_p.W178R	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	663					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CAGTCTCTCCAATGATATGGT	0.358													G	31619373	A	G	31619373	3	3	88	1	0	0	0	0	1	0	0	0	7039	130	5	3	5969	3	HECTD1	14	31619373	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	27239	31619373	75730167	679	58101											
HEATR5A	25938	broad.mit.edu	37	chr14	31856542	31856542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcaaaatttttctctaGccaagctcctcctagtgttg	8	11	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:31856542G>A	uc001wrf.3	-	2	171	c.94C>T	c.(94-96)CTA>TTA	p.L32L	HEATR5A_uc010ami.2_5'UTR|HEATR5A_uc001wrg.1_5'UTR|HEATR5A_uc010tpk.1_Silent_p.L325L	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	319							binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TTTTTCTCTAGCCAAGCTCCT	0.403													A	31856542	G	A	31856542	2	1	88	1	0	0	0	0	0	0	0	1	7031	962	34	2		2	HEATR5A	14	31856542	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	237169	31856542	75492998	680	58102											
INSM2	84684	broad.mit.edu	37	chr14	36004422	36004422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtcctgcggctgcaaacGccgccacagtctcctccgcc	10	20	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:36004422G>A	uc001wth.1	+	1	1175	c.964G>A	c.(964-966)GCC>ACC	p.A322T		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GGCTGCAAACGCCGCCACAGT	0.647													A	36004422	G	A	36004422	3	1	88	1	0	0	0	0	1	0	0	0	7772	1087	38	1	966	1	INSM2	14	36004422	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	4147880	36004422	71345118	681	58103											
TRIM9	114088	broad.mit.edu	37	chr14	51561212	51561212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caattaccccttccagtacgCgattcttggggaagccgcgg	11	13	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:51561212C>T	uc001wyx.3	-	1	1211	c.446G>A	c.(445-447)CGC>CAC	p.R149H	TRIM9_uc001wyy.2_Missense_Mutation_p.R149H|TRIM9_uc001wyz.3_Missense_Mutation_p.R149H	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	149					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					TTCCAGTACGCGATTCTTGGG	0.657													T	51561212	C	T	51561212	3	4	88	1	0	0	0	0	1	0	0	0	16546	768	27	1	1776	1	TRIM9	14	51561212	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	15556790	51561212	55788328	682	58104											
SAMD4A	23034	broad.mit.edu	37	chr14	55203855	55203855	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgtctcatgaggacttaCgagctagaggaccccagtgc	13	10	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:55203855C>T	uc001xbb.2	+	3	827	c.826C>T	c.(826-828)CGA>TGA	p.R276*	SAMD4A_uc001xbc.2_Intron	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4 isoform	277					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity				0						TGAGGACTTACGAGCTAGAGG	0.542													T	55203855	C	T	55203855	4	4	88	1	0	0	0	0	0	1	0	0	13821	528	19	1	836	1	SAMD4A	14	55203855	Nonsense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	3642643	55203855	52145685	683	58105											
SLC35F4	341880	broad.mit.edu	37	chr14	58038711	58038711	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgccatcatgacaatgccGgtaattgccattattgcagc	8	10	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:58038711G>A	uc001xdb.1	-	5	942	c.942C>T	c.(940-942)ACC>ACT	p.T314T	SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Silent_p.T155T	NM_001080455	NP_001073924			solute carrier family 35, member F4											ovary(2)	2						TGACAATGCCGGTAATTGCCA	0.433													A	58038711	G	A	58038711	2	1	88	1	0	0	0	0	0	0	0	1	14591	1103	39	1		1	SLC35F4	14	58038711	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2834856	58038711	49310829	684	58106											
C14orf135	64430	broad.mit.edu	37	chr14	60585059	60585059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctacaggttggtatcataCgtgatcgtttgattcagttc	9	7	3	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:60585059C>T	uc001xer.3	+	6	1411	c.889C>T	c.(889-891)CGT>TGT	p.R297C	C14orf135_uc001xeq.2_Missense_Mutation_p.R297C|C14orf135_uc010apm.2_RNA	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	531						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		TGGTATCATACGTGATCGTTT	0.323													T	60585059	C	T	60585059	3	4	88	1	0	0	0	0	1	0	0	0	1745	536	19	1	907	1	C14orf135	14	60585059	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2546348	60585059	46764481	685	58107											
KCNH5	27133	broad.mit.edu	37	chr14	63269210	63269210	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagacacccatcgctggcCaatcgaaaagcaggatgttc	10	13	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:63269210C>T	uc001xfx.2	-	9	1710	c.1659G>A	c.(1657-1659)TTG>TTA	p.L553L	KCNH5_uc001xfy.2_Silent_p.L553L|KCNH5_uc001xfz.1_Silent_p.L495L	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	553	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CATCGCTGGCCAATCGAAAAG	0.507													T	63269210	C	T	63269210	2	4	88	1	0	0	0	0	0	0	0	1	8035	593	21	4		4	KCNH5	14	63269210	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2684151	63269210	44080330	686	58108											
ESR2	2100	broad.mit.edu	37	chr14	64749567	64749567	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagggctatagaatgtcAtggctggatattcatggtgg	14	6	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:64749567A>G	uc001xha.1	-	2	605	c.137T>C	c.(136-138)ATG>ACG	p.M46T	ESR2_uc001xgu.2_Missense_Mutation_p.M46T|ESR2_uc001xgv.2_Missense_Mutation_p.M46T|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Missense_Mutation_p.M46T|ESR2_uc001xgy.1_Missense_Mutation_p.M46T|ESR2_uc001xgz.1_Missense_Mutation_p.M46T|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Missense_Mutation_p.M46T	NM_001437	NP_001428	Q92731	ESR2_HUMAN	estrogen receptor beta isoform 1	46	Modulating.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ATAGAATGTCATGGCTGGATA	0.498													G	64749567	A	G	64749567	3	3	88	1	0	0	0	0	1	0	0	0	5257	217	8	3	1573	3	ESR2	14	64749567	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	1480357	64749567	42599973	687	58109											
SFRS5	6430	broad.mit.edu	37	chr14	70237232	70237232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaagtaacgtttgcggatGcacaccgacctaaattaaat	10	8	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:70237232G>A	uc001xll.2	+	7	1866	c.415G>A	c.(415-417)GCA>ACA	p.A139T	SFRS5_uc001xlm.2_RNA|SFRS5_uc001xln.1_3'UTR|SFRS5_uc001xlo.2_Missense_Mutation_p.A139T|SFRS5_uc001xlp.2_Missense_Mutation_p.A139T|SFRS5_uc001xlq.2_Missense_Mutation_p.A136T	NM_006925	NP_008856	Q13243	SRSF5_HUMAN	splicing factor, arginine/serine-rich 5	139	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding				0				all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154)		GTTTGCGGATGCACACCGACC	0.368													A	70237232	G	A	70237232	3	1	88	1	0	0	0	0	1	0	0	0	14180	1319	46	2	433	2	SFRS5	14	70237232	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	5487665	70237232	37112308	688	58110											
ADAM20	8748	broad.mit.edu	37	chr14	70990808	70990808	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgttgcattactttgagAgaaaagatatctaatattat	7	3	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:70990808A>G	uc001xme.2	-	2	1062	c.817T>C	c.(817-819)TCT>CCT	p.S273P		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	223	Peptidase M12B.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TTACTTTGAGAGAAAAGATAT	0.388													G	70990808	A	G	70990808	3	3	88	1	0	0	0	0	1	0	0	0	242	304	11	3	1517	3	ADAM20	14	70990808	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	753576	70990808	36358732	689	58111											
DCAF4	26094	broad.mit.edu	37	chr14	73422258	73422258	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtttaatggctgccgcTctggggaaatctttgccatt	11	9	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:73422258T>C	uc001xng.2	+	12	1253	c.1033T>C	c.(1033-1035)TCT>CCT	p.S345P	DCAF4_uc001xnj.2_Missense_Mutation_p.S339P|DCAF4_uc010ttr.1_Missense_Mutation_p.S324P|DCAF4_uc001xnh.2_Missense_Mutation_p.S245P|DCAF4_uc010tts.1_Missense_Mutation_p.S285P|DCAF4_uc010ttt.1_Missense_Mutation_p.S131P|DCAF4_uc001xni.2_Missense_Mutation_p.S175P|DCAF4_uc001xnk.2_Missense_Mutation_p.S345P	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4 isoform 1	345						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)|skin(1)	3						TGGCTGCCGCTCTGGGGAAAT	0.557													C	73422258	T	C	73422258	3	2	88	1	0	0	0	0	1	0	0	0	4270	1551	54	3	1078	3	DCAF4	14	73422258	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	2431450	73422258	33927282	690	58112											
PAPLN	89932	broad.mit.edu	37	chr14	73721644	73721644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatctgtgccattgggccGcccagccactgcgggagcct	13	15	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:73721644G>A	uc010ttx.1	+	13	1708	c.1545G>A	c.(1543-1545)CCG>CCA	p.P515P	PAPLN_uc001xnw.3_Silent_p.P488P|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.P515P	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	515	TSP type-1 5.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCATTGGGCCGCCCAGCCACT	0.642													A	73721644	G	A	73721644	2	1	88	1	0	0	0	0	0	0	0	1	11428	1074	38	1		1	PAPLN	14	73721644	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	299386	73721644	33627896	691	58113											
YLPM1	56252	broad.mit.edu	37	chr14	75265236	75265236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacagaggagaaggtagccGggacagagggttggtgaggc	20	5	0	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:75265236G>A	uc001xqj.3	+	5	3360	c.3236G>A	c.(3235-3237)CGG>CAG	p.R1079Q	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	884	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAAGGTAGCCGGGACAGAGGG	0.557													A	75265236	G	A	75265236	3	1	88	1	0	0	0	0	1	0	0	0	17483	1116	39	1	3254	1	YLPM1	14	75265236	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1543592	75265236	32084304	692	58114											
TMED10	10972	broad.mit.edu	37	chr14	75614415	75614415	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcttcatgtctaggatcacGagttggtcaggtatccgccc	11	11	4	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:75614415G>A	uc001xrm.1	-	3	430	c.363C>T	c.(361-363)CTC>CTT	p.L121L	TMED10_uc010ash.1_RNA|TMED10_uc010asg.1_RNA|TMED10_uc010tuz.1_5'UTR	NM_006827	NP_006818	P49755	TMEDA_HUMAN	transmembrane emp24 domain-containing protein 10	121	Lumenal (Potential).|GOLD.				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding				0				BRCA - Breast invasive adenocarcinoma(234;0.0126)		CTAGGATCACGAGTTGGTCAG	0.493													A	75614415	G	A	75614415	2	1	88	1	0	0	0	0	0	0	0	1	16000	1045	37	1		1	TMED10	14	75614415	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	349179	75614415	31735125	693	58115											
TTLL5	23093	broad.mit.edu	37	chr14	76156622	76156622	+	Frame_Shift_Del	DEL	C	C	-													ttcaaggcttttcacatcctCccccagaccttcctcctgcc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:76156621_76156621TC>T	uc010ask.2	+	5	733	c.458_458TC>T	c.(457-459)ctcfs	p.L153fs	TTLL5_uc001xrw.2_Frame_Shift_Del_p.L153fs|TTLL5_uc001xrx.3_Frame_Shift_Del_p.L153fs	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	153	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTTCACATCCTCCCCCAGACC	0.458													-	76156622	C	-	76156622	7	5	88	1	0	1	0	1	0	0	0	0	16727	842	30	0	477	0	TTLL5	14	76156622	Frame_Shift_Del	DEL	C	TCGA-BR-8382-01A-11D-2394-08	542207	76156622	31192918	694	58116											
TTC7B	145567	broad.mit.edu	37	chr14	91044549	91044549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccggagctcagcaatctgGccgcgcatgtagaggacatt	12	13	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:91044549G>A	uc001xyp.2	-	19	2333	c.2211C>T	c.(2209-2211)GGC>GGT	p.G737G	TTC7B_uc001xyo.2_Silent_p.G181G|TTC7B_uc010ats.2_RNA	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	737	TPR 9.						binding			ovary(2)	2		Melanoma(154;0.222)				CAGCAATCTGGCCGCGCATGT	0.592													A	91044549	G	A	91044549	2	1	88	1	0	0	0	0	0	0	0	1	16710	1190	42	2		2	TTC7B	14	91044549	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	14887927	91044549	16304991	695	58117											
TTC7B	145567	broad.mit.edu	37	chr14	91196513	91196513	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagggccaggcttagggcTtctgttttgaatattagaaa	12	6	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:91196513T>C	uc001xyp.2	-	5	726	c.604A>G	c.(604-606)AGC>GGC	p.S202G		NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	202							binding			ovary(2)	2		Melanoma(154;0.222)				GGCTTAGGGCTTCTGTTTTGA	0.418													C	91196513	T	C	91196513	3	2	88	1	0	0	0	0	1	0	0	0	16710	1609	56	3	1991	3	TTC7B	14	91196513	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	151964	91196513	16153027	696	58118											
ITPK1	3705	broad.mit.edu	37	chr14	93412766	93412766	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgacacgcccagtgcctGccgcagggcccgggagagct	16	14	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:93412766G>A	uc001ybg.2	-	10	1100	c.811C>T	c.(811-813)CAG>TAG	p.Q271*	ITPK1_uc001ybe.2_Nonsense_Mutation_p.Q271*|ITPK1_uc001ybf.2_Nonsense_Mutation_p.Q152*|ITPK1_uc001ybh.2_Nonsense_Mutation_p.Q271*	NM_014216	NP_055031	Q13572	ITPK1_HUMAN	inositol 1,3,4-triphosphate 5/6 kinase isoform	271	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding				0		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CCCAGTGCCTGCCGCAGGGCC	0.617													A	93412766	G	A	93412766	4	1	88	1	0	0	0	0	0	1	0	0	7916	1328	46	2	489	2	ITPK1	14	93412766	Nonsense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2216253	93412766	13936774	697	58119											
SERPINA5	5104	broad.mit.edu	37	chr14	95053821	95053821	+	Frame_Shift_Del	DEL	C	C	-													ccatgtaggtgccacggtggCccccagcagcagaagggact							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:95053820_95053820GC>G	uc001ydm.2	+	2	331	c.121_121GC>G	c.(121-123)gccfs	p.A41fs	SERPINA5_uc010ave.2_Frame_Shift_Del_p.A41fs|SERPINA5_uc001ydn.1_Frame_Shift_Del_p.A41fs	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	41					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TGCCACGGTGGCCCCCAGCAG	0.622													-	95053821	C	-	95053821	7	5	88	1	0	1	0	1	0	0	0	0	14092	739	26	0	124	0	SERPINA5	14	95053821	Frame_Shift_Del	DEL	C	TCGA-BR-8382-01A-11D-2394-08	1641055	95053821	12295719	698	58120											
CLMN	79789	broad.mit.edu	37	chr14	95786068	95786068	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgcaggttctgcactcggAtgtcgctaatctgcccgatg	11	12	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:95786068A>G	uc001yef.2	-	1	178	c.62T>C	c.(61-63)ATC>ACC	p.I21T		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	21	Actin-binding.|CH 1.					integral to membrane	actin binding				0				Epithelial(152;0.193)		CTGCACTCGGATGTCGCTAAT	0.632													G	95786068	A	G	95786068	3	3	88	1	0	0	0	0	1	0	0	0	3542	333	12	3	2998	3	CLMN	14	95786068	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	732247	95786068	11563472	699	58121											
BDKRB1	623	broad.mit.edu	37	chr14	96730468	96730468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagccggaggcagcagcGgcggaggcaggcccgggtca	20	13	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:96730468G>A	uc001yfh.2	+	3	657	c.449G>A	c.(448-450)CGG>CAG	p.R150Q	BDKRB1_uc010avn.2_Missense_Mutation_p.R150Q	NM_000710	NP_000701	P46663	BKRB1_HUMAN	bradykinin receptor B1	150	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			ovary(3)	3		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		AGGCAGCAGCGGCGGAGGCAG	0.632													A	96730468	G	A	96730468	3	1	88	1	0	0	0	0	1	0	0	0	1392	1116	39	1	451	1	BDKRB1	14	96730468	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	944400	96730468	10619072	700	58122											
BCL11B	64919	broad.mit.edu	37	chr14	99641328	99641328	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgcgcttctgcttgtcGgccaggagctcgccgtactg	14	15	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:99641328G>A	uc001yga.2	-	4	2112	c.1845C>T	c.(1843-1845)GCC>GCT	p.A615A	BCL11B_uc001ygb.2_Silent_p.A544A	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	615	Gly-rich.					nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TCTGCTTGTCGGCCAGGAGCT	0.428			T	TLX3	T-ALL								A	99641328	G	A	99641328	2	1	88	1	0	0	0	0	0	0	0	1	1364	1103	39	1		1	BCL11B	14	99641328	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2910860	99641328	7708212	701	58123											
CYP46A1	10858	broad.mit.edu	37	chr14	100191749	100191749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcacctatgtcatggggCggatggacacatactttgag	12	9	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:100191749C>T	uc001ygo.2	+	13	1198	c.1198C>T	c.(1198-1200)CGG>TGG	p.R400W	CYP46A1_uc001ygp.2_Missense_Mutation_p.R237W	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46	400					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity				0		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TGTCATGGGGCGGATGGACAC	0.602													T	100191749	C	T	100191749	3	4	88	1	0	0	0	0	1	0	0	0	4182	759	27	1	1248	1	CYP46A1	14	100191749	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	550421	100191749	7157791	702	58124											
EML1	2009	broad.mit.edu	37	chr14	100377791	100377791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagctatgcagttcaggggGcccatgagggtggcattttt	14	7	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:100377791G>A	uc001ygs.2	+	13	1441	c.1372G>A	c.(1372-1374)GCC>ACC	p.A458T	EML1_uc010tww.1_Missense_Mutation_p.A446T|EML1_uc001ygq.2_Missense_Mutation_p.A477T|EML1_uc001ygr.2_Missense_Mutation_p.A477T	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	458	WD 5.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AGTTCAGGGGGCCCATGAGGG	0.453													A	100377791	G	A	100377791	3	1	88	1	0	0	0	0	1	0	0	0	5096	1203	42	2	1483	2	EML1	14	100377791	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	186042	100377791	6971749	703	58125											
BAG5	9529	broad.mit.edu	37	chr14	104026528	104026528	+	Frame_Shift_Del	DEL	T	T	-													tggcttcccggatgcaggggTttttttcaagacttacctca							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:104026527_104026527GT>G	uc021seg.1	-	0	975	c.975_975AC>C	c.(973-975)aacfs	p.N325fs	KLC1_uc010tyd.1_5'Flank|BAG5_uc001yni.2_Frame_Shift_Del_p.N325fs|BAG5_uc001ynh.2_Frame_Shift_Del_p.N366fs|BAG5_uc001ynj.2_Frame_Shift_Del_p.N325fs|KLC1_uc010tyc.2_5'Flank	NM_004873	NP_004864	Q9UL15	BAG5_HUMAN	Homo sapiens BCL2-associated athanogene 5 (BAG5), transcript variant 2, mRNA.	325	BAG 4.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			GGATGCAGGGGTTTTTTTCAA	0.443													-	104026528	T	-	104026528	7	5	88	1	0	1	0	1	0	0	0	0	1290	1725	60	0	373	0	BAG5	14	104026528	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	3648737	104026528	3323012	704	58126											
PPP1R13B	23368	broad.mit.edu	37	chr14	104206305	104206305	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgttattgtcctctgcCggctcggcagtttggtgggt	14	8	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:104206305C>T	uc001yof.1	-	12	2731	c.2448G>A	c.(2446-2448)CCG>CCA	p.P816P	PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Silent_p.P683P	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	816	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TGTCCTCTGCCGGCTCGGCAG	0.602													T	104206305	C	T	104206305	2	4	88	1	0	0	0	0	0	0	0	1	12357	639	23	1		1	PPP1R13B	14	104206305	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	179777	104206305	3143235	705	58127											
KIAA0284	283638	broad.mit.edu	37	chr14	105353081	105353081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccccagcacgggatggCgtctatgtcagtgccaatgg	13	13	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:105353081C>T	uc010axb.2	+	12	2729	c.2505C>T	c.(2503-2505)GGC>GGT	p.G835G	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.G765G|KIAA0284_uc001yps.2_Silent_p.G741G|KIAA0284_uc001ypt.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	835						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CACGGGATGGCGTCTATGTCA	0.642													T	105353081	C	T	105353081	2	4	88	1	0	0	0	0	0	0	0	1	8166	755	27	1		1	KIAA0284	14	105353081	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1146776	105353081	1996459	706	58128											
AHNAK2	113146	broad.mit.edu	37	chr14	105409804	105409804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcggcctccacctttggcGcggtcacatccactgatgcc	10	17	1	1	rs146136367	by1000genomes	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:105409804G>A	uc010axc.1	-	7	12104	c.11984C>T	c.(11983-11985)GCG>GTG	p.A3995V	AHNAK2_uc001ypx.2_Missense_Mutation_p.A3895V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3995						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)			CACCTTTGGCGCGGTCACATC	0.612													A	105409804	G	A	105409804	3	1	88	1	0	0	0	0	1	0	0	0	415	1087	38	1	5407	1	AHNAK2	14	105409804	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	56723	105409804	1939736	707	58129											
SPTBN5	51332	broad.mit.edu	37	chr15	42180139	42180139	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcacacctgtgggcatggaTgagggcattgaagcccagcc	14	11	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:42180139T>C	uc001zos.2	-	5	874	c.541A>G	c.(541-543)ATC>GTC	p.I181V		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	216	Actin-binding.|CH 2.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGGGCATGGATGAGGGCATTG	0.602													C	42180139	T	C	42180139	3	2	88	1	0	0	0	0	1	0	0	0	15121	1464	51	3	10634	3	SPTBN5	15	42180139	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08		42180139	60351253	708	58130											
FRMD5	84978	broad.mit.edu	37	chr15	44175999	44175999	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagctccggctgggaaccAtccctgctctgaggttaaag	12	12	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:44175999A>G	uc001ztl.2	-	13	1214	c.1037T>C	c.(1036-1038)ATG>ACG	p.M346T	FRMD5_uc001ztj.1_Missense_Mutation_p.M19T|FRMD5_uc001ztk.1_Missense_Mutation_p.M252T|FRMD5_uc010uef.1_Missense_Mutation_p.M19T|FRMD5_uc001ztm.2_Missense_Mutation_p.M19T|FRMD5_uc001ztn.2_Missense_Mutation_p.M112T	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5 isoform 2	346						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		GCTGGGAACCATCCCTGCTCT	0.507													G	44175999	A	G	44175999	3	3	88	1	0	0	0	0	1	0	0	0	6053	217	8	3	683	3	FRMD5	15	44175999	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	1995860	44175999	58355393	709	58131											
B2M	567	broad.mit.edu	37	chr15	45003781	45003782	+	Frame_Shift_Del	DEL	CT	CT	-													ccttagctgtgctcgcgctaCtctctctttctggcctggag					rs11553044		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:45003780_45003781ACT>A	uc001zuc.3	+	0	96_97	c.36_37ACT>A	c.(34-39)ctactcfs	p.L12fs	B2M_uc010uek.1_Frame_Shift_Del_p.L12fs|B2M_uc010bdx.1_Frame_Shift_Del_p.L12fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	12					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.L15fs*41(4)|p.A11fs*42(2)|p.L13F(2)|p.L12Q(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TGCTCGCGCTACTCTCTCTTTC	0.614													-	45003782	CT	-	45003781	7	5	88	1	0	1	0	1	0	0	0	0	1244	565	20	0	39	0	B2M	15	45003781	Frame_Shift_Del	DEL	CT	TCGA-BR-8382-01A-11D-2394-08	827782	45003781	57527611	710	58132											
B2M	567	broad.mit.edu	37	chr15	45007834	45007834	+	Frame_Shift_Del	DEL	A	A	-													cactgaattcacccccactgAaaaagatgagtatgcctgcc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:45007833_45007833GA>G	uc001zuc.3	+	1	340	c.280_280GA>G	c.(280-282)gaafs	p.E94fs	B2M_uc010uek.1_Frame_Shift_Del_p.E94fs|B2M_uc010bdx.1_Intron	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	94	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.E94K(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		CACCCCCACTGAAAAAGATGA	0.423													-	45007834	A	-	45007834	7	5	88	1	0	1	0	1	0	0	0	0	1244	246	9	0	287	0	B2M	15	45007834	Frame_Shift_Del	DEL	A	TCGA-BR-8382-01A-11D-2394-08	4053	45007834	57523558	711	58133											
FBN1	2200	broad.mit.edu	37	chr15	48703398	48703398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggttgattttaaagaagCcatcttcatttccagattcg	7	7	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:48703398C>T	uc001zwx.1	-	66	8733	c.8405G>A	c.(8404-8406)GGC>GAC	p.G2802D	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2802					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTAAAGAAGCCATCTTCATT	0.423													T	48703398	C	T	48703398	3	4	88	1	0	0	0	0	1	0	0	0	5702	739	26	2	214	2	FBN1	15	48703398	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	3695564	48703398	53827994	712	58134											
SHC4	399694	broad.mit.edu	37	chr15	49254719	49254719	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggctccccagggccaggaAgcgggcacgaatcaggggtt	16	11	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:49254719A>C	uc001zxb.1	-	1	923	c.494T>G	c.(493-495)CTT>CGT	p.L165R		NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	rai-like protein	165	CH2.				intracellular signal transduction	cell junction|postsynaptic membrane				ovary(3)|pancreas(2)	5		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		AGGGCCAGGAAGCGGGCACGA	0.597													C	49254719	A	C	49254719	3	2	88	1	0	0	0	0	1	0	0	0	14273	72	3	5	1446	5	SHC4	15	49254719	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	551321	49254719	53276673	713	58135											
USP8	9101	broad.mit.edu	37	chr15	50733661	50733661	+	Frame_Shift_Del	DEL	A	A	-													tgactgtttataatcttatcAaaaaaagacctgatttcaag							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:50733661delA	uc001zym.3	+	4	720	c.220delA	c.(220-222)AAAfs	p.K74fs	USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.3_Frame_Shift_Del_p.K74fs|USP8_uc001zyn.3_Frame_Shift_Del_p.K74fs|USP8_uc010ufh.1_Intron|USP8_uc010bev.1_5'UTR	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	74	MIT.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TAATCTTATCAAAAAAAGACC	0.318													-	50733661	A	-	50733661	7	5	88	1	0	1	0	1	0	0	0	0	17086	131	5	0	226	0	USP8	15	50733661	Frame_Shift_Del	DEL	A	TCGA-BR-8382-01A-11D-2394-08	1478942	50733661	51797731	714	58136											
MYO5A	4644	broad.mit.edu	37	chr15	52668649	52668649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggatggtcttctggatcCggatgcaggcagctctcagt	13	11	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:52668649C>T	uc002aby.2	-	19	2559	c.2315G>A	c.(2314-2316)CGG>CAG	p.R772Q	MYO5A_uc002abx.3_Missense_Mutation_p.R772Q|MYO5A_uc010uge.1_Missense_Mutation_p.R641Q	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	772	IQ 1.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTTCTGGATCCGGATGCAGGC	0.522													T	52668649	C	T	52668649	3	4	88	1	0	0	0	0	1	0	0	0	10078	652	23	1	3344	1	MYO5A	15	52668649	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1934988	52668649	49862743	715	58137											
ZNF280D	54816	broad.mit.edu	37	chr15	56968927	56968927	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaataactttgaggcaaaAcgggcatagcaagttcttag	9	6	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:56968927A>C	uc002adu.2	-	13	1568	c.1351T>G	c.(1351-1353)TTT>GTT	p.F451V	ZNF280D_uc002adv.2_Missense_Mutation_p.F438V|ZNF280D_uc010bfq.2_Missense_Mutation_p.F451V|ZNF280D_uc002adw.1_Missense_Mutation_p.F479V|ZNF280D_uc010bfr.1_RNA|ZNF280D_uc010bfp.2_RNA	NM_017661	NP_060131	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	451	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TTGAGGCAAAACGGGCATAGC	0.299													C	56968927	A	C	56968927	3	2	88	1	0	0	0	0	1	0	0	0	17814	43	2	5	1628	5	ZNF280D	15	56968927	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	4300278	56968927	45562465	716	58138											
TLN2	83660	broad.mit.edu	37	chr15	63029211	63029211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacgtgatggagggctccGccatgctcattcaagaggcc	14	11	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:63029211G>A	uc002alb.3	+	26	3493	c.3493G>A	c.(3493-3495)GCC>ACC	p.A1165T		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1165	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GGAGGGCTCCGCCATGCTCAT	0.597													A	63029211	G	A	63029211	3	1	88	1	0	0	0	0	1	0	0	0	15945	1087	38	1	3595	1	TLN2	15	63029211	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	6060284	63029211	39502181	717	58139											
SPG21	51324	broad.mit.edu	37	chr15	65262526	65262526	+	Frame_Shift_Del	DEL	T	T	-													tgaaaaatttccaagaactaTttttttgagcataaatgcag							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:65262525_65262525AT>A	uc002aod.3	-	5	581	c.488_488AT>T	c.(487-489)atafs	p.I163fs	SPG21_uc002aoe.3_Frame_Shift_Del_p.I163fs|SPG21_uc010bhb.3_Frame_Shift_Del_p.I136fs	NM_001127889	NP_057714	Q9NZD8	SPG21_HUMAN	Homo sapiens spastic paraplegia 21 (autosomal recessive, Mast syndrome) (SPG21), transcript variant 2, mRNA.	163					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TCCAAGAACTATTTTTTTGAG	0.398													-	65262526	T	-	65262526	7	5	88	1	0	1	0	1	0	0	0	0	15042	1493	52	0	455	0	SPG21	15	65262526	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	2233315	65262526	37268866	718	58140											
SPG21	51324	broad.mit.edu	37	chr15	65273318	65273318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgatacttcgggggcccgCgtcatagagcgaccatatct	11	13	2	2	rs142452716		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:65273318C>T	uc002aod.2	-	3	202	c.109G>A	c.(109-111)GCG>ACG	p.A37T	SPG21_uc002aoe.2_Missense_Mutation_p.A37T|SPG21_uc010bhb.2_Missense_Mutation_p.A37T|SPG21_uc010bhc.2_5'UTR	NM_001127889	NP_001121361	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 isoform a	37					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding				0						CGGGGGCCCGCGTCATAGAGC	0.453													T	65273318	C	T	65273318	3	4	88	1	0	0	0	0	1	0	0	0	15042	768	27	1	845	1	SPG21	15	65273318	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	10792	65273318	37258074	719	58141											
MEGF11	84465	broad.mit.edu	37	chr15	66262946	66262946	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagtcacgtggtcacactGccctccatggtggcaaggac	11	14	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:66262946G>A	uc002apm.2	-	8	985	c.844C>T	c.(844-846)CAG>TAG	p.Q282*	MEGF11_uc002apl.2_Nonsense_Mutation_p.Q207*|MEGF11_uc002apn.1_Nonsense_Mutation_p.Q282*	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11 precursor	282	EGF-like 5.					basolateral plasma membrane|integral to membrane				pancreas(1)	1						TGGTCACACTGCCCTCCATGG	0.527													A	66262946	G	A	66262946	4	1	88	1	0	0	0	0	0	1	0	0	9461	1328	46	2	2354	2	MEGF11	15	66262946	Nonsense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	989628	66262946	36268446	720	58142											
LCTL	197021	broad.mit.edu	37	chr15	66850103	66850103	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtagtcaccggcataaatGgggttggcaaaccagcccag	14	10	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:66850103G>T	uc002aqc.2	-	8	1011	c.879C>A	c.(877-879)CCC>CCA	p.P293P	LCTL_uc002aqd.3_Silent_p.P120P|LCTL_uc010bhw.2_5'UTR	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	lactase-like precursor	293	Extracellular (Potential).				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(2)	2						CGGCATAAATGGGGTTGGCAA	0.507													T	66850103	G	T	66850103	2	4	88	1	0	0	0	0	0	0	0	1	8694	1335	47	5		5	LCTL	15	66850103	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	587157	66850103	35681289	721	58143											
PIAS1	8554	broad.mit.edu	37	chr15	68479955	68479955	+	Frame_Shift_Del	DEL	T	T	-													acctcctacactcgtctcggTttttcccgtatacctcctca							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:68479954_68479954GT>G	uc002aqz.3	+	13	1830	c.1737_1737GT>G	c.(1735-1737)cggfs	p.R579fs		NM_016166	NP_057250	O75925	PIAS1_HUMAN	Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA.	579	4 X 4 AA repeats of N-T-S-L.|Ser-rich.				JAK-STAT cascade|androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|enzyme binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						ACTCGTCTCGGTTTTTCCCGT	0.488													-	68479955	T	-	68479955	7	5	88	1	0	1	0	1	0	0	0	0	11875	1725	60	0	1792	0	PIAS1	15	68479955	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	1629852	68479955	34051437	722	58144											
HCN4	10021	broad.mit.edu	37	chr15	73622033	73622033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcatggtgagccagacgtCggacatgcccacgggcgcct	15	13	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:73622033C>T	uc002avp.2	-	4	2465	c.1471G>A	c.(1471-1473)GAC>AAC	p.D491N		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	491	Extracellular (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		AGCCAGACGTCGGACATGCCC	0.632													T	73622033	C	T	73622033	3	4	88	1	0	0	0	0	1	0	0	0	6999	884	31	1	2160	1	HCN4	15	73622033	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	5142078	73622033	28909359	723	58145											
SCAMP2	10066	broad.mit.edu	37	chr15	75141038	75141038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagaagctgaaagagttgtCggacctgtggagagagaggg	17	4	0	5			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:75141038C>T	uc002azb.1	-	7	711	c.637G>A	c.(637-639)GAC>AAC	p.D213N	SCAMP2_uc002aza.1_Missense_Mutation_p.D63N|SCAMP2_uc010bkg.1_Intron	NM_005697	NP_005688	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	213	Cytoplasmic (Potential).|Interaction with SLC9A7.				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			ovary(1)	1						AAAGAGTTGTCGGACCTGTGG	0.493													T	75141038	C	T	75141038	3	4	88	1	0	0	0	0	1	0	0	0	13871	884	31	1	364	1	SCAMP2	15	75141038	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1519005	75141038	27390354	724	58146											
PSMA4	5685	broad.mit.edu	37	chr15	78837238	78837238	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacagtatcaggagccaatAccttgtgagcagttggttac	10	8	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:78837238A>G	uc002bdu.3	+	6	473	c.315A>G	c.(313-315)ATA>ATG	p.I105M	PSMA4_uc010blf.2_Missense_Mutation_p.I105M|PSMA4_uc002bdv.3_Missense_Mutation_p.I34M|PSMA4_uc002bdw.3_Missense_Mutation_p.I81M|PSMA4_uc002bdx.3_Missense_Mutation_p.I34M	NM_002789	NP_002780	P25789	PSA4_HUMAN	proteasome alpha 4 subunit isoform 1	105					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity				0						AGGAGCCAATACCTTGTGAGC	0.328													G	78837238	A	G	78837238	3	3	88	1	0	0	0	0	1	0	0	0	12669	381	14	3	333	3	PSMA4	15	78837238	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	3696200	78837238	23694154	725	58147											
CHRNA3	1136	broad.mit.edu	37	chr15	78888987	78888987	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggggttgcagaaacaatcCtgctgtccctagaatgcaca	10	11	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:78888987C>A	uc002bec.2	-	6	1663	c.1477G>T	c.(1477-1479)GGA>TGA	p.G493*	CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Intron|CHRNA3_uc010blg.1_RNA	NM_000743	NP_000734	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3	493	Helical; (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|ovary(1)	4						AGAAACAATCCTGCTGTCCCT	0.488													A	78888987	C	A	78888987	4	1	88	1	0	0	0	0	0	1	0	0	3384	690	24	5	129	5	CHRNA3	15	78888987	Nonsense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	51749	78888987	23642405	726	58148											
MEX3B	84206	broad.mit.edu	37	chr15	82336301	82336301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgcgctgctgctggtccCgccgccgaaataagagtctg	13	14	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:82336301C>T	uc002bgq.1	-	2	1225	c.910G>A	c.(910-912)GGG>AGG	p.G304R		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	304					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						CTGCTGGTCCCGCCGCCGAAA	0.632													T	82336301	C	T	82336301	3	4	88	1	0	0	0	0	1	0	0	0	9510	652	23	1	803	1	MEX3B	15	82336301	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	3447314	82336301	20195091	727	58149											
AKAP13	11214	broad.mit.edu	37	chr15	86124026	86124026	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttagattcagttttgacTgaagaaggaaaacttctggt	10	5	2	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:86124026T>C	uc002blv.1	+	7	2897	c.2727T>C	c.(2725-2727)ACT>ACC	p.T909T	AKAP13_uc002blt.1_Silent_p.T909T|AKAP13_uc002blu.1_Silent_p.T909T|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	909					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						CAGTTTTGACTGAAGAAGGAA	0.458													C	86124026	T	C	86124026	2	2	88	1	0	0	0	0	0	0	0	1	449	1567	55	3		3	AKAP13	15	86124026	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	3787725	86124026	16407366	728	58150											
RLBP1	6017	broad.mit.edu	37	chr15	89758344	89758344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaatgttgaagagcatgaCcactcggccatacttgtccc	8	13	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:89758344C>T	uc002bnl.2	-	6	852	c.472G>A	c.(472-474)GTC>ATC	p.V158I		NM_000326	NP_000317	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	158	CRAL-TRIO.				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)	1	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	AAGAGCATGACCACTCGGCCA	0.572													T	89758344	C	T	89758344	3	4	88	1	0	0	0	0	1	0	0	0	13388	507	18	4	497	4	RLBP1	15	89758344	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	3634318	89758344	12773048	729	58151											
C15orf42	90381	broad.mit.edu	37	chr15	90118931	90118931	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctatctgagttgccgattCggcctggccagggtccactg	12	13	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:90118931C>T	uc002boe.2	+	1	114	c.114C>T	c.(112-114)TTC>TTT	p.F38F		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	38					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GTTGCCGATTCGGCCTGGCCA	0.498													T	90118931	C	T	90118931	2	4	88	1	0	0	0	0	0	0	0	1	1796	883	31	1		1	C15orf42	15	90118931	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	360587	90118931	12412461	730	58152											
MAN2A2	4122	broad.mit.edu	37	chr15	91452612	91452612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagctgttccgaagcaacGtcctcctggtgcctcttgga	10	15	1	0	rs145039941		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:91452612G>A	uc010bnz.2	+	9	1367	c.1252G>A	c.(1252-1254)GTC>ATC	p.V418I	MAN2A2_uc010boa.2_Missense_Mutation_p.V460I|MAN2A2_uc002bqc.2_Missense_Mutation_p.V418I|MAN2A2_uc010uql.1_Missense_Mutation_p.V122I|MAN2A2_uc010uqm.1_Silent_p.T64T|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	418	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCGAAGCAACGTCCTCCTGGT	0.542													A	91452612	G	A	91452612	3	1	88	1	0	0	0	0	1	0	0	0	9215	1145	40	1	1282	1	MAN2A2	15	91452612	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1333681	91452612	11078780	731	58153											
SV2B	9899	broad.mit.edu	37	chr15	91769857	91769857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggtttggccctgatggccGatggggtggaagtgttcgtg	19	6	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:91769857G>A	uc002bqv.2	+	1	755	c.364G>A	c.(364-366)GAT>AAT	p.D122N	SV2B_uc002bqt.2_Missense_Mutation_p.D122N|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	122	Helical; (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CCTGATGGCCGATGGGGTGGA	0.532													A	91769857	G	A	91769857	3	1	88	1	0	0	0	0	1	0	0	0	15415	1058	37	1	366	1	SV2B	15	91769857	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	317245	91769857	10761535	732	58154											
MCTP2	55784	broad.mit.edu	37	chr15	94901802	94901803	+	Frame_Shift_Ins	INS	-	-	G													attttggacattgaagtgtgINSgggaaaggacaacaaaaagc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:94901801_94901802T>TG	uc002btj.3	+	8	1326_1327	c.1261_1262T>TG	c.(1261-1263)tggfs	p.W421fs	MCTP2_uc010urg.1_3'UTR|MCTP2_uc002bti.2_Frame_Shift_Ins_p.W421fs|MCTP2_uc010boj.3_Frame_Shift_Ins_p.W150fs|MCTP2_uc010bok.3_Frame_Shift_Ins_p.W421fs|MCTP2_uc002btk.4_Frame_Shift_Ins_p.W9fs|MCTP2_uc002btl.3_Frame_Shift_Ins_p.W9fs	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	421	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CATTGAAGTGTGGGGAAAGGAC	0.5													G	94901803	-	G	94901802	7	5	88	1	0	1	1	0	0	0	0	0	9401	1357	47	0	1296	0	MCTP2	15	94901802	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	3131945	94901802	7629590	733	58155											
RHBDF1	64285	broad.mit.edu	37	chr16	114974	114974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccagggtggcttcttgcGctgcaggctgctcgtgctgt	15	11	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:114974G>A	uc002cfl.3	-	5	188	c.40C>T	c.(40-42)CGC>TGC	p.R14C	RHBDF1_uc010uty.1_Missense_Mutation_p.R14C|RHBDF1_uc010utz.1_Missense_Mutation_p.R14C|RHBDF1_uc010bqo.1_RNA	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	14	Cytoplasmic (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GGCTTCTTGCGCTGCAGGCTG	0.617													A	114974	G	A	114974	3	1	88	1	0	0	0	0	1	0	0	0	13319	1087	38	1	2595	1	RHBDF1	16	114974	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08		114974	90239779	734	58156											
MSLN	10232	broad.mit.edu	37	chr16	815589	815589	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggcctgctgcccgtgctggGccagcccatcatccgcagca	13	17	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:815589G>C	uc002cjw.1	+	9	818	c.767G>C	c.(766-768)GGC>GCC	p.G256A	MSLN_uc002cjt.1_Missense_Mutation_p.G256A|MSLN_uc002cju.1_Missense_Mutation_p.G256A|MSLN_uc010brd.1_Missense_Mutation_p.G255A|MSLN_uc002cjv.1_Missense_Mutation_p.G256A|MSLN_uc002cjx.1_Missense_Mutation_p.G256A|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	mesothelin isoform 2 preproprotein	256					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				pancreas(1)	1		Hepatocellular(780;0.00335)				CCCGTGCTGGGCCAGCCCATC	0.701													C	815589	G	C	815589	3	2	88	1	0	0	0	0	1	0	0	0	9881	1203	42	5	797	5	MSLN	16	815589	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	700615	815589	89539164	735	58157											
PKD1	5310	broad.mit.edu	37	chr16	2139989	2139989	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagcagggcctcgaacacGgcttggaggcgggagggctc	19	10	0	1	rs141412586		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:2139989G>A	uc002cos.1	-	46	12860	c.12651C>T	c.(12649-12651)GCC>GCT	p.A4217A	PKD1_uc002cot.1_Silent_p.A4216A	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	4217	Cytoplasmic (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CCTCGAACACGGCTTGGAGGC	0.672													A	2139989	G	A	2139989	2	1	88	1	0	0	0	0	0	0	0	1	11963	1103	39	1		1	PKD1	16	2139989	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1324400	2139989	88214764	736	58158											
CREBBP	1387	broad.mit.edu	37	chr16	3778452	3778452	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgttgctgctgctgcTgcagcagctgcctccgtaac	12	14	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:3778452T>A	uc002cvv.2	-	31	6800	c.6596A>T	c.(6595-6597)CAG>CTG	p.Q2199L	CREBBP_uc002cvw.2_Missense_Mutation_p.Q2161L	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2199	Poly-Gln.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ctgctgctgctgcagcagctg	0.418			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				A	3778452	T	A	3778452	3	1	88	1	0	0	0	0	1	0	0	0	3861	1580	55	5	736	5	CREBBP	16	3778452	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	1638463	3778452	86576301	737	58159											
ADCY9	115	broad.mit.edu	37	chr16	4039076	4039076	+	Frame_Shift_Del	DEL	A	A	-													aactgattaatgggcggcttAaaaaagtaatctttcatcag							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:4039075_4039075TA>T	uc002cvx.3	-	5	2769	c.2230_2230TA>A	c.(2230-2232)aagfs	p.K744fs		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	744					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATGGGCGGCTTAAAAAAGTAA	0.448													-	4039076	A	-	4039076	7	5	88	1	0	1	0	1	0	0	0	0	301	359	13	0	1856	0	ADCY9	16	4039076	Frame_Shift_Del	DEL	A	TCGA-BR-8382-01A-11D-2394-08	260624	4039076	86315677	738	58160											
MKL2	57496	broad.mit.edu	37	chr16	14355230	14355230	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggactcactcctctcAgcaccaccgcgccgagcatg	8	18	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:14355230A>G	uc010uza.1	+	17	3384	c.3229A>G	c.(3229-3231)AGC>GGC	p.S1077G	MKL2_uc002dcg.2_Missense_Mutation_p.S1027G|MKL2_uc002dcj.2_Missense_Mutation_p.S322G	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	1066					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5						CACTCCTCTCAGCACCACCGC	0.517													G	14355230	A	G	14355230	3	3	88	1	0	0	0	0	1	0	0	0	9602	188	7	3	3137	3	MKL2	16	14355230	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	10316154	14355230	75999523	739	58161											
TMC5	79838	broad.mit.edu	37	chr16	19451390	19451390	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactacaggaataactggtcTgaggaagacccagattaccc	9	10	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:19451390T>C	uc002dgc.3	+	3	779	c.30T>C	c.(28-30)TCT>TCC	p.S10S	TMC5_uc010vaq.1_Silent_p.S10S|TMC5_uc002dgb.3_Silent_p.S10S|TMC5_uc010var.1_Silent_p.S10S	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	10	Extracellular (Potential).					integral to membrane				skin(1)	1						ATAACTGGTCTGAGGAAGACC	0.458													C	19451390	T	C	19451390	2	2	88	1	0	0	0	0	0	0	0	1	15985	1567	55	3		3	TMC5	16	19451390	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	5096160	19451390	70903363	740	58162											
DNAH3	55567	broad.mit.edu	37	chr16	20976519	20976519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccaccaccttggccacgCgatcgtacacctccatggcc	9	18	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:20976519C>T	uc010vbe.1	-	53	8687	c.8687G>A	c.(8686-8688)CGC>CAC	p.R2896H	DNAH3_uc010vbd.1_Missense_Mutation_p.R331H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2896	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CTTGGCCACGCGATCGTACAC	0.567													T	20976519	C	T	20976519	3	4	88	1	0	0	0	0	1	0	0	0	4603	768	27	1	3702	1	DNAH3	16	20976519	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1525129	20976519	69378234	741	58163											
ZP2	7783	broad.mit.edu	37	chr16	21210127	21210127	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaggagtcatctgacaacaGgagaatgggtcctgggaggc	16	7	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:21210127G>T	uc002dii.2	-	17	1984	c.1984C>A	c.(1984-1986)CTG>ATG	p.L662M	ZP2_uc010bwn.1_Missense_Mutation_p.L692M	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	662	Extracellular (Potential).				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(48;0.0573)		TCTGACAACAGGAGAATGGGT	0.488													T	21210127	G	T	21210127	3	4	88	1	0	0	0	0	1	0	0	0	18213	991	35	5	265	5	ZP2	16	21210127	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	233608	21210127	69144626	742	58164											
HS3ST2	9956	broad.mit.edu	37	chr16	22926525	22926525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtcatggaacgccatccGcatcggcatgtacgtgctgc	12	13	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:22926525G>A	uc002dli.2	+	2	818	c.746G>A	c.(745-747)CGC>CAC	p.R249H	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	249	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		AACGCCATCCGCATCGGCATG	0.617													A	22926525	G	A	22926525	3	1	88	1	0	0	0	0	1	0	0	0	7364	1087	38	1	752	1	HS3ST2	16	22926525	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1716398	22926525	67428228	743	58165											
USP31	57478	broad.mit.edu	37	chr16	23091458	23091458	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggccagtcaaggggaatttgAccatgttctgaagtttcatg	12	7	3	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:23091458A>T	uc002dll.2	-	13	1985	c.1985T>A	c.(1984-1986)GTC>GAC	p.V662D	USP31_uc010bxm.2_5'UTR	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	662					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		GGGGAATTTGACCATGTTCTG	0.498													T	23091458	A	T	23091458	3	4	88	1	0	0	0	0	1	0	0	0	17059	275	10	5	2089	5	USP31	16	23091458	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	164933	23091458	67263295	744	58166											
AQP8	343	broad.mit.edu	37	chr16	25228664	25228664	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcttcatcttcatcgggtGcctgtcggtcattgagaatg	10	10	5	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:25228664G>T	uc002doc.2	+	2	240	c.158G>T	c.(157-159)TGC>TTC	p.C53F		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8	53	Helical; (Potential).				cellular response to cAMP	integral to plasma membrane	water channel activity			upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(48;0.044)		TTCATCGGGTGCCTGTCGGTC	0.627													T	25228664	G	T	25228664	3	4	88	1	0	0	0	0	1	0	0	0	832	1319	46	5	164	5	AQP8	16	25228664	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2137206	25228664	65126089	745	58167											
GTF3C1	2975	broad.mit.edu	37	chr16	27509009	27509009	+	Frame_Shift_Del	DEL	T	T	-													tatgcccattttattatcacTttttttcatccgtccacttt							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:27509008_27509008CT>C	uc002dov.2	-	13	2340	c.2300_2300AG>G	c.(2299-2301)agtfs	p.S767fs	GTF3C1_uc002dou.3_Frame_Shift_Del_p.S767fs	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	767						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTTATTATCACTTTTTTTCAT	0.433													-	27509009	T	-	27509009	7	5	88	1	0	1	0	1	0	0	0	0	6872	1609	56	0	4126	0	GTF3C1	16	27509009	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	2280345	27509009	62845744	746	58168											
TUFM	7284	broad.mit.edu	37	chr16	28855345	28855345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccgccgcaagtcctcccGcttcaagcctcggaccaggg	11	19	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:28855345G>A	uc002drh.2	-	8	1139	c.1000C>T	c.(1000-1002)CGG>TGG	p.R334W	uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank	NM_003321	NP_003312	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	331						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			ovary(1)	1						AAGTCCTCCCGCTTCAAGCCT	0.637													A	28855345	G	A	28855345	3	1	88	1	0	0	0	0	1	0	0	0	16768	1086	38	1	379	1	TUFM	16	28855345	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1346336	28855345	61499408	747	58169											
SEPHS2	22928	broad.mit.edu	37	chr16	30455823	30455823	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgggccgttcggtttcccTtttccacaatgccaacgatc	8	15	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:30455823T>C	uc010ves.1	-	2	1402	c.1226A>G	c.(1225-1227)AAG>AGG	p.K409R	SEPHS2_uc002dyh.1_Missense_Mutation_p.K352R|SEPHS2_uc010vet.1_Missense_Mutation_p.K291R	NM_012248	NP_036380	Q99611	SPS2_HUMAN	selenophosphate synthetase 2	409					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(2)	2						TCGGTTTCCCTTTTCCACAAT	0.527													C	30455823	T	C	30455823	3	2	88	1	0	0	0	0	1	0	0	0	14055	1609	56	3	124	3	SEPHS2	16	30455823	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	1600478	30455823	59898930	748	58170											
ITGAL	3683	broad.mit.edu	37	chr16	30521775	30521775	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgtgagctctcccatcTtcaaagcaggccactcggtg	10	13	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:30521775T>G	uc002dyi.3	+	22	2778	c.2602T>G	c.(2602-2604)TTC>GTC	p.F868V	ITGAL_uc002dyj.3_Missense_Mutation_p.F784V|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	868	Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	CTCTCCCATCTTCAAAGCAGG	0.587													G	30521775	T	G	30521775	3	3	88	1	0	0	0	0	1	0	0	0	7886	1609	56	5	2688	5	ITGAL	16	30521775	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	65952	30521775	59832978	749	58171											
PRR14	78994	broad.mit.edu	37	chr16	30666359	30666359	+	Silent	SNP	A	A	G													gctccaccccaaccaagccgAccacggccgcggcggcacac							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:30666359A>G	uc002dyy.2	+	8	1326	c.1068A>G	c.(1066-1068)CGA>CGG	p.R356R	PRR14_uc002dyz.2_Silent_p.R201R|PRR14_uc002dza.2_Silent_p.R356R|PRR14_uc002dzb.1_Silent_p.R170R	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	proline rich 14	356	Pro-rich.										0			Colorectal(24;0.103)			AACCAAGCCGACCACGGCCGC	0.697													G	30666359	A	G	30666359	2	3	88	1	0	0	0	0	0	0	0	1	12586	262	10	3		3	PRR14	16	30666359	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	144584	30666359	59688394	750	58172	255	2									
PRR14	78994	broad.mit.edu	37	chr16	30666362	30666362	+	Silent	SNP	A	A	G													ccaccccaaccaagccgaccAcggccgcggcggcacactgt							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:30666362A>G	uc002dyy.2	+	8	1329	c.1071A>G	c.(1069-1071)CCA>CCG	p.P357P	PRR14_uc002dyz.2_Silent_p.P202P|PRR14_uc002dza.2_Silent_p.P357P|PRR14_uc002dzb.1_Silent_p.P171P	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	proline rich 14	357	Pro-rich.										0			Colorectal(24;0.103)			CAAGCCGACCACGGCCGCGGC	0.697													G	30666362	A	G	30666362	2	3	88	1	0	0	0	0	0	0	0	1	12586	146	6	3		3	PRR14	16	30666362	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	3	30666362	59688391	751	58173	255	2									
PRR14	78994	broad.mit.edu	37	chr16	30666716	30666716	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaagagcctcaaaggaccAggtgctttcagaacctgaga	11	11	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:30666716A>G	uc002dyy.2	+	9	1547	c.1289A>G	c.(1288-1290)CAG>CGG	p.Q430R	PRR14_uc002dyz.2_Missense_Mutation_p.Q275R|PRR14_uc002dza.2_Missense_Mutation_p.Q430R	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	proline rich 14	430											0			Colorectal(24;0.103)			TCAAAGGACCAGGTGCTTTCA	0.537													G	30666716	A	G	30666716	3	3	88	1	0	0	0	0	1	0	0	0	12586	188	7	3	1319	3	PRR14	16	30666716	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	354	30666716	59688037	752	58174											
C16orf78	123970	broad.mit.edu	37	chr16	49412460	49412460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaaaggggaaacacctcaGcatggtccctggcagctaca	11	12	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:49412460G>A	uc002efr.2	+	3	393	c.350G>A	c.(349-351)AGC>AAC	p.S117N		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	hypothetical protein LOC123970	117										central_nervous_system(1)	1						AAACACCTCAGCATGGTCCCT	0.552													A	49412460	G	A	49412460	3	1	88	1	0	0	0	0	1	0	0	0	1835	971	34	2	360	2	C16orf78	16	49412460	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	18745744	49412460	40942293	753	58175											
RBL2	5934	broad.mit.edu	37	chr16	53504727	53504727	+	Frame_Shift_Del	DEL	A	A	-													atatttcagatgaattgaggAaaaaaatctggacctgcttt					rs67367291		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:53504726_53504726GA>G	uc002ehi.4	+	16	2713	c.2595_2595GA>G	c.(2593-2595)aggfs	p.R865fs	RBL2_uc002ehj.3_Frame_Shift_Del_p.R575fs|RBL2_uc010vgw.2_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	865	Domain B.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATGAATTGAGGAAAAAAATCT	0.378													-	53504727	A	-	53504727	7	5	88	1	0	1	0	1	0	0	0	0	13110	247	9	0	2662	0	RBL2	16	53504727	Frame_Shift_Del	DEL	A	TCGA-BR-8382-01A-11D-2394-08	4092267	53504727	36850026	754	58176											
GPR114	221188	broad.mit.edu	37	chr16	57598979	57598979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctctgctgaataactacGtcctgggggcccagctgagt	11	12	1	2	rs143828233		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:57598979G>A	uc002elx.3	+	6	548	c.463G>A	c.(463-465)GTC>ATC	p.V155I	GPR114_uc010vhr.1_Missense_Mutation_p.V155I|GPR114_uc002ely.2_Missense_Mutation_p.V155I	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	155	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						GAATAACTACGTCCTGGGGGC	0.577													A	57598979	G	A	57598979	3	1	88	1	0	0	0	0	1	0	0	0	6631	1145	40	1	481	1	GPR114	16	57598979	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	4094252	57598979	32755774	755	58177											
GPR56	9289	broad.mit.edu	37	chr16	57693479	57693479	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctgcacttctccctgCtcacctgcctttcctggatg	6	17	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:57693479C>A	uc002emb.2	+	12	1751	c.1459C>A	c.(1459-1461)CTC>ATC	p.L487I	GPR56_uc002elz.1_Missense_Mutation_p.L317I|GPR56_uc002ema.1_Missense_Mutation_p.L312I|GPR56_uc002emc.2_Missense_Mutation_p.L481I|GPR56_uc002emf.2_Missense_Mutation_p.L481I|GPR56_uc010vhs.1_Missense_Mutation_p.L487I|GPR56_uc002emd.2_Missense_Mutation_p.L481I|GPR56_uc002eme.2_Missense_Mutation_p.L481I|GPR56_uc010vht.1_Missense_Mutation_p.L486I|GPR56_uc002emg.3_Missense_Mutation_p.L481I|GPR56_uc010vhu.1_Missense_Mutation_p.L306I	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	487	Helical; Name=3; (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						CTTCTCCCTGCTCACCTGCCT	0.617													A	57693479	C	A	57693479	3	1	88	1	0	0	0	0	1	0	0	0	6700	797	28	5	1512	5	GPR56	16	57693479	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	94500	57693479	32661274	756	58178											
CNOT1	23019	broad.mit.edu	37	chr16	58576171	58576171	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggcatccgttcagcttgAtatgttaaaacaacaggatc	8	9	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:58576171A>G	uc002env.2	-	33	4937	c.4644T>C	c.(4642-4644)TAT>TAC	p.Y1548Y	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.Y1543Y|CNOT1_uc010vik.1_Silent_p.Y505Y	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1548					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GTTCAGCTTGATATGTTAAAA	0.408													G	58576171	A	G	58576171	2	3	88	1	0	0	0	0	0	0	0	1	3617	340	12	3		3	CNOT1	16	58576171	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	882692	58576171	31778582	757	58179											
CNOT1	23019	broad.mit.edu	37	chr16	58612691	58612691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtggagataagttcatggCgcaaggtatgccaagaggtg	16	5	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:58612691C>T	uc002env.2	-	13	1789	c.1496G>A	c.(1495-1497)CGC>CAC	p.R499H	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.R499H|CNOT1_uc002enx.2_Missense_Mutation_p.R499H|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	499					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAGTTCATGGCGCAAGGTATG	0.438													T	58612691	C	T	58612691	3	4	88	1	0	0	0	0	1	0	0	0	3617	768	27	1	6004	1	CNOT1	16	58612691	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	36520	58612691	31742062	758	58180											
CDH11	1009	broad.mit.edu	37	chr16	65006930	65006930	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tctgtcgaggtcagtgtgacGatcgatggaatacctaagca	12	8	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:65006930G>C	uc002eoi.2	-	9	1701	c.1267C>G	c.(1267-1269)CGT>GGT	p.R423G	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.R423G|CDH11_uc010vin.1_Missense_Mutation_p.R297G	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	423	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCAGTGTGACGATCGATGGAA	0.368			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			C	65006930	G	C	65006930	3	2	88	1	0	0	0	0	1	0	0	0	3097	1058	37	5	1143	5	CDH11	16	65006930	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	6394239	65006930	25347823	759	58181											
PDP2	57546	broad.mit.edu	37	chr16	66919107	66919107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgtctgccccttacacGtgaccacaatgcctggaacc	8	15	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:66919107G>A	uc002eqk.1	+	2	1082	c.920G>A	c.(919-921)CGT>CAT	p.R307H		NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	pyruvate dehydrogenase phosphatase isoenzyme 2	307					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CCCCTTACACGTGACCACAAT	0.567													A	66919107	G	A	66919107	3	1	88	1	0	0	0	0	1	0	0	0	11686	1145	40	1	922	1	PDP2	16	66919107	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1912177	66919107	23435646	760	58182											
HSF4	3299	broad.mit.edu	37	chr16	67200243	67200243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaacgagatcttgtggcGggaggtggtgacacttcggc	17	8	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:67200243G>A	uc002erl.1	+	7	1471	c.506G>A	c.(505-507)CGG>CAG	p.R169Q	HSF4_uc002erm.1_Missense_Mutation_p.R169Q|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_RNA	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4 isoform b	169	Hydrophobic repeat HR-A/B.				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		ATCTTGTGGCGGGAGGTGGTG	0.632													A	67200243	G	A	67200243	3	1	88	1	0	0	0	0	1	0	0	0	7398	1116	39	1	524	1	HSF4	16	67200243	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	281136	67200243	23154510	761	58183											
EXOC3L	283849	broad.mit.edu	37	chr16	67219046	67219046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccccaacccacctgaaccGtggggttccgcacgcgccag	10	19	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:67219046G>A	uc002erx.1	-	11	1983	c.1742C>T	c.(1741-1743)ACG>ATG	p.T581M	KIAA0895L_uc002ert.2_5'Flank|KIAA0895L_uc002eru.2_5'Flank|EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Missense_Mutation_p.T232M|EXOC3L_uc002ery.1_Missense_Mutation_p.T483M|EXOC3L_uc010vje.1_Missense_Mutation_p.T478M	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	581					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		CACCTGAACCGTGGGGTTCCG	0.677													A	67219046	G	A	67219046	3	1	88	1	0	0	0	0	1	0	0	0	5304	1145	40	1	514	1	EXOC3L	16	67219046	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	18803	67219046	23135707	762	58184											
CENPT	80152	broad.mit.edu	37	chr16	67862748	67862748	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggctctgaagataagcTgagggcaacagtggacagag	15	7	1	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:67862748T>G	uc002eun.3	-	14	1830	c.1281_splice	c.e14-1	p.V427_splice	CENPT_uc002eum.3_Splice_Site_p.V372_splice|CENPT_uc010vkc.1_Splice_Site_p.V185_splice|CENPT_uc010vkd.1_Splice_Site_p.V180_splice	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	centromere protein T						mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GAAGATAAGCTGAGGGCAACA	0.622													G	67862748	T	G	67862748	5	3	88	1	0	0	0	0	0	0	1	0	3242	1594	55	5	418	5	CENPT	16	67862748	Splice_Site	SNP	T	TCGA-BR-8382-01A-11D-2394-08	643702	67862748	22492005	763	58185											
COG8	84342	broad.mit.edu	37	chr16	69369001	69369001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatatcaaagagatggacaCgggaggcctcgatggttttt	13	6	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:69369001C>T	uc002ewy.2	-	3	907	c.836G>A	c.(835-837)CGT>CAT	p.R279H	COG8_uc002ewz.3_Missense_Mutation_p.R279H	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	279					protein transport	Golgi membrane|Golgi transport complex				ovary(1)	1						GAGATGGACACGGGAGGCCTC	0.517													T	69369001	C	T	69369001	3	4	88	1	0	0	0	0	1	0	0	0	3664	536	19	1	1014	1	COG8	16	69369001	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1506253	69369001	20985752	764	58186											
NFAT5	10725	broad.mit.edu	37	chr16	69660352	69660352	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagttacagttacctccatcTagagaaacatctgtagcatc	7	10	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:69660352T>C	uc002exm.1	+	2	1328	c.120T>C	c.(118-120)TCT>TCC	p.S40S	NFAT5_uc002exh.1_5'UTR|NFAT5_uc002exi.2_5'UTR|NFAT5_uc002exj.1_5'UTR|NFAT5_uc002exk.1_5'UTR|NFAT5_uc002exl.1_Silent_p.S58S|NFAT5_uc002exn.1_Silent_p.S58S	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	40					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						TACCTCCATCTAGAGAAACAT	0.443													C	69660352	T	C	69660352	2	2	88	1	0	0	0	0	0	0	0	1	10360	1509	53	3		3	NFAT5	16	69660352	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	291351	69660352	20694401	765	58187											
WWP2	11060	broad.mit.edu	37	chr16	69942710	69942710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtgtctattatgttgacCacaataccaagaccaccacc	6	13	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:69942710C>T	uc002exu.1	+	10	1050	c.961C>T	c.(961-963)CAC>TAC	p.H321Y	WWP2_uc002ext.2_Missense_Mutation_p.H321Y|WWP2_uc002exv.1_Missense_Mutation_p.H321Y|WWP2_uc010vlm.1_Missense_Mutation_p.H205Y	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	321	WW 1.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			lung(3)|ovary(1)|breast(1)|skin(1)	6						TTATGTTGACCACAATACCAA	0.522													T	69942710	C	T	69942710	3	4	88	1	0	0	0	0	1	0	0	0	17413	594	21	4	991	4	WWP2	16	69942710	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	282358	69942710	20412043	766	58188											
CLEC18A	348174	broad.mit.edu	37	chr16	69988310	69988310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccccaaccccgagcctggCgtccggcctgtggcgcaccc	11	20	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:69988310C>T	uc010vlo.1	+	4	410	c.290C>T	c.(289-291)GCG>GTG	p.A97V	CLEC18C_uc002exy.2_Missense_Mutation_p.A97V|CLEC18A_uc002exz.2_Missense_Mutation_p.A97V|CLEC18A_uc002eya.2_Missense_Mutation_p.A97V|CLEC18A_uc010vlp.1_Missense_Mutation_p.A97V	NM_001136214	NP_001129686	A5D8T8	CL18A_HUMAN	secretory protein LOC348174 precursor	97	SCP.					extracellular region	sugar binding				0						CCGAGCCTGGCGTCCGGCCTG	0.637													T	69988310	C	T	69988310	3	4	88	1	0	0	0	0	1	0	0	0	3502	768	27	1	300	1	CLEC18A	16	69988310	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	45600	69988310	20366443	767	58189											
MARVELD3	91862	broad.mit.edu	37	chr16	71668202	71668202	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcaccagcttggggggCatttactactatcagttcgg	12	10	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:71668202C>T	uc002fat.2	+	3	765	c.702C>T	c.(700-702)GGC>GGT	p.G234G	MARVELD3_uc002fau.2_Intron|MARVELD3_uc010cge.2_Intron	NM_052858	NP_443090	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 2	234	MARVEL.|Helical; (Potential).					integral to membrane				skin(1)	1		Ovarian(137;0.125)				GCTTGGGGGGCATTTACTACT	0.557													T	71668202	C	T	71668202	2	4	88	1	0	0	0	0	0	0	0	1	9319	697	25	2		2	MARVELD3	16	71668202	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1679892	71668202	18686551	768	58190											
ZFHX3	463	broad.mit.edu	37	chr16	72827613	72827613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctggaaccagacctgaaCgactctctttggcagtccaa	8	12	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:72827613C>T	uc002fck.2	-	9	9641	c.8968G>A	c.(8968-8970)GTT>ATT	p.V2990I	ZFHX3_uc002fcl.2_Missense_Mutation_p.V2076I	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	2990	Homeobox 4.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				CAGACCTGAACGACTCTCTTT	0.473													T	72827613	C	T	72827613	3	4	88	1	0	0	0	0	1	0	0	0	17631	536	19	1	2151	1	ZFHX3	16	72827613	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1159411	72827613	17527140	769	58191											
GLG1	2734	broad.mit.edu	37	chr16	74525092	74525092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccagcatctccccctggCactcactgctgacttgtcgc	7	17	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:74525092C>T	uc002fcy.3	-	8	1306	c.1256G>A	c.(1255-1257)TGC>TAC	p.C419Y	GLG1_uc002fcx.2_Missense_Mutation_p.C419Y|GLG1_uc002fcw.3_Missense_Mutation_p.C408Y|GLG1_uc002fcz.3_Intron	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	419	Extracellular (Potential).|Cys-rich GLG1 6.					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2						CTCCCCCTGGCACTCACTGCT	0.458													T	74525092	C	T	74525092	3	4	88	1	0	0	0	0	1	0	0	0	6436	710	25	2	2439	2	GLG1	16	74525092	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1697479	74525092	15829661	770	58192											
ADAMTS18	170692	broad.mit.edu	37	chr16	77317937	77317937	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaggaactaggtgacaCcagttgaagaaatctacgca	11	8	1	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:77317937C>A	uc002ffc.3	-	23	4001	c.3582G>T	c.(3580-3582)TGG>TGT	p.W1194C		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1194	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						CTAGGTGACACCAGTTGAAGA	0.388													A	77317937	C	A	77317937	3	1	88	1	0	0	0	0	1	0	0	0	263	508	18	5	87	5	ADAMTS18	16	77317937	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2792845	77317937	13036816	771	58193											
PKD1L2	114780	broad.mit.edu	37	chr16	81145850	81145850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcacggcgtagggctgccGtgatcatgttcattttggga	15	8	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:81145850G>A	uc002fgh.1	-	42	6902	c.6902C>T	c.(6901-6903)ACG>ATG	p.T2301M	PKD1L2_uc002fgf.1_Missense_Mutation_p.T101M|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	2301	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TAGGGCTGCCGTGATCATGTT	0.532													A	81145850	G	A	81145850	3	1	88	1	0	0	0	0	1	0	0	0	11965	1145	40	1	493	1	PKD1L2	16	81145850	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	3827913	81145850	9208903	772	58194											
PKD1L2	114780	broad.mit.edu	37	chr16	81161488	81161488	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctggtactgccattactgAgggtggtggcattccagcct	12	11	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:81161488A>C	uc002fgh.1	-	37	6227	c.6227T>G	c.(6226-6228)CTC>CGC	p.L2076R	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	2076	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GCCATTACTGAGGGTGGTGGC	0.587													C	81161488	A	C	81161488	3	2	88	1	0	0	0	0	1	0	0	0	11965	304	11	5	1183	5	PKD1L2	16	81161488	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	15638	81161488	9193265	773	58195											
PLCG2	5336	broad.mit.edu	37	chr16	81969978	81969978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcactcaatttccagaCggcaggtaaaggccgactga	13	10	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:81969978C>T	uc002fgt.2	+	27	3199	c.3047C>T	c.(3046-3048)ACG>ATG	p.T1016M		NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	1016	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						AATTTCCAGACGGCAGGTAAA	0.577													T	81969978	C	T	81969978	3	4	88	1	0	0	0	0	1	0	0	0	12036	536	19	1	3149	1	PLCG2	16	81969978	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	808490	81969978	8384775	774	58196											
KIAA0182	23199	broad.mit.edu	37	chr16	85682290	85682291	+	Frame_Shift_Ins	INS	-	-	C													ggccacagcgtgcccagcacINScccccccgtggtgaccatcg							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:85682289_85682290A>AC	uc002fix.3	+	2	432_433	c.358_359A>AC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688													C	85682291	-	C	85682290	7	5	88	1	0	1	1	0	0	0	0	0	8159	507	18	0	369	0	KIAA0182	16	85682290	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	3712312	85682290	4672463	775	58197											
MYO1C	4641	broad.mit.edu	37	chr17	1386933	1386933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacttcatagaagctgacGccacggtaacgctccatatg	10	12	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:1386933G>A	uc002fsp.2	-	3	538	c.318C>T	c.(316-318)GGC>GGT	p.G106G	MYO1C_uc002fsn.2_Silent_p.G87G|MYO1C_uc002fso.2_Silent_p.G71G|MYO1C_uc010vqj.1_Silent_p.G71G|MYO1C_uc010vqk.1_Silent_p.G82G	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	106	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGAAGCTGACGCCACGGTAAC	0.627													A	1386933	G	A	1386933	2	1	88	1	0	0	0	0	0	0	0	1	10070	1074	38	1		1	MYO1C	17	1386933	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08		1386933	79808277	776	58198											
SCARF1	8578	broad.mit.edu	37	chr17	1548908	1548908	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgctggccacacagacGtgctgccctttggggtccag	12	15	0	1	rs143791504	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:1548908G>A	uc002fsz.1	-	1	134	c.84C>T	c.(82-84)CAC>CAT	p.H28H	SCARF1_uc002fsy.1_Silent_p.H28H|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Silent_p.H28H	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	28	Extracellular (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCACACAGACGTGCTGCCCTT	0.677													A	1548908	G	A	1548908	2	1	88	1	0	0	0	0	0	0	0	1	13883	1136	40	1		1	SCARF1	17	1548908	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	161975	1548908	79646302	777	58199											
TSR1	55720	broad.mit.edu	37	chr17	2234242	2234242	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaggaggatagataccTcagctccttcaacctctttt	7	11	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:2234242T>C	uc002fuj.2	-	9	2615	c.1658A>G	c.(1657-1659)GAG>GGG	p.E553G	SNORD91B_uc002fuk.1_5'Flank|SNORD91A_uc002ful.1_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation	553					ribosome assembly	nucleolus	protein binding			ovary(1)	1						GATAGATACCTCAGCTCCTTC	0.378													C	2234242	T	C	2234242	3	2	88	1	0	0	0	0	1	0	0	0	16661	1565	54	3	784	3	TSR1	17	2234242	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	685334	2234242	78960968	778	58200											
BCL6B	255877	broad.mit.edu	37	chr17	6930865	6930865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcacaagagtcaactgcGgctgcatctgcgccagaaac	11	14	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:6930865G>A	uc002geg.2	+	9	1424	c.1367G>A	c.(1366-1368)CGG>CAG	p.R456Q	BCL6B_uc010clt.1_Missense_Mutation_p.R457Q	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	456	C2H2-type 5.					nucleus	zinc ion binding			skin(1)	1						AGTCAACTGCGGCTGCATCTG	0.607													A	6930865	G	A	6930865	3	1	88	1	0	0	0	0	1	0	0	0	1377	1116	39	1	1397	1	BCL6B	17	6930865	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	4696623	6930865	74264345	779	58201											
PHF23	79142	broad.mit.edu	37	chr17	7140781	7140781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatcctcaattgttctccGccgtttctctggtggctgaa	9	11	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:7140781G>A	uc002gfa.2	-	3	309	c.82C>T	c.(82-84)CGG>TGG	p.R28W	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Missense_Mutation_p.R28W|PHF23_uc010cma.2_5'UTR	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	28							zinc ion binding				0						ATTGTTCTCCGCCGTTTCTCT	0.448													A	7140781	G	A	7140781	3	1	88	1	0	0	0	0	1	0	0	0	11835	1086	38	1	1141	1	PHF23	17	7140781	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	209916	7140781	74054429	780	58202											
C17orf74	201243	broad.mit.edu	37	chr17	7329699	7329699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcgtcgccgccgccgccGccaccgccgttgtcgccgtc	12	20	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:7329699G>A	uc002ggw.2	+	3	462	c.389G>A	c.(388-390)CGC>CAC	p.R130H	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	130	Arg-rich.					integral to membrane					0		Prostate(122;0.157)				cgccgccgccgccaccgccgt	0.418													A	7329699	G	A	7329699	3	1	88	1	0	0	0	0	1	0	0	0	1879	1087	38	1	399	1	C17orf74	17	7329699	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	188918	7329699	73865511	781	58203											
TMEM102	284114	broad.mit.edu	37	chr17	7339811	7339811	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccagtcccaggagcacgTgattcgatccaccgaacgga	10	16	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:7339811T>C	uc002ggx.1	+	3	786	c.513T>C	c.(511-513)CGT>CGC	p.R171R	FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Silent_p.R171R	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN	transmembrane protein 102	171	Extracellular (Potential).				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding				0		Prostate(122;0.173)				CAGGAGCACGTGATTCGATCC	0.592													C	7339811	T	C	7339811	2	2	88	1	0	0	0	0	0	0	0	1	16014	1683	59	3		3	TMEM102	17	7339811	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	10112	7339811	73855399	782	58204											
KDM6B	23135	broad.mit.edu	37	chr17	7756403	7756403	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaaatcgcttaccagggcCgtgtcaaggacgagccagcc	12	12	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:7756403C>A	uc002giw.1	+	21	5072	c.4696C>A	c.(4696-4698)CGT>AGT	p.R1566S	KDM6B_uc002gix.2_Missense_Mutation_p.R868S|TMEM88_uc002giy.2_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1566					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						TTACCAGGGCCGTGTCAAGGA	0.637													A	7756403	C	A	7756403	3	1	88	1	0	0	0	0	1	0	0	0	8138	652	23	5	4766	5	KDM6B	17	7756403	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	416592	7756403	73438807	783	58205											
CHD3	1107	broad.mit.edu	37	chr17	7813796	7813796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgaaggcggacgtgaccCgcctgccagccacgctgtcc	12	16	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:7813796C>T	uc002gje.2	+	38	5791	c.5641C>T	c.(5641-5643)CGC>TGC	p.R1881C	CHD3_uc002gjd.2_Missense_Mutation_p.R1940C|CHD3_uc002gjf.2_Missense_Mutation_p.R1847C|CHD3_uc002gjh.2_Missense_Mutation_p.R458C|CHD3_uc002gjj.2_Missense_Mutation_p.R44C	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1881	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				GGACGTGACCCGCCTGCCAGC	0.567													T	7813796	C	T	7813796	3	4	88	1	0	0	0	0	1	0	0	0	3326	652	23	1	6072	1	CHD3	17	7813796	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	57393	7813796	73381414	784	58206											
GUCY2D	3000	broad.mit.edu	37	chr17	7915595	7915595	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacgcggggctctcttcAggacctcctcgctcagagag	12	15	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:7915595A>G	uc002gjt.2	+	9	1957	c.1883A>G	c.(1882-1884)CAG>CGG	p.Q628R		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	628	Protein kinase.|Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GGCTCTCTTCAGGACCTCCTC	0.612													G	7915595	A	G	7915595	3	3	88	1	0	0	0	0	1	0	0	0	6897	188	7	3	1913	3	GUCY2D	17	7915595	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	101799	7915595	73279615	785	58207											
PER1	5187	broad.mit.edu	37	chr17	8047100	8047100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgtgagacatagcagggCgcttcagcccgagggttctg	17	9	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:8047100C>T	uc002gkd.2	-	19	2794	c.2556G>A	c.(2554-2556)GCG>GCA	p.A852A	PER1_uc010cns.2_5'Flank|PER1_uc010vuq.1_Intron	NM_002616	NP_002607	O15534	PER1_HUMAN	period 1	852	Pro-rich.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						CATAGCAGGGCGCTTCAGCCC	0.697			T	ETV6	AML|CMML			Other_conserved_DNA_damage_response_genes					T	8047100	C	T	8047100	2	4	88	1	0	0	0	0	0	0	0	1	11729	755	27	1		1	PER1	17	8047100	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	131505	8047100	73148110	786	58208											
ARHGEF15	22899	broad.mit.edu	37	chr17	8221918	8221918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcagcgctgaggtggggCgcatgaagcagactgaagag	18	7	0	5			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:8221918C>T	uc002glc.2	+	11	1931	c.1810C>T	c.(1810-1812)CGC>TGC	p.R604C	ARHGEF15_uc002gld.2_Missense_Mutation_p.R604C|ARHGEF15_uc010vuw.1_Missense_Mutation_p.R493C	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	604					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						TGAGGTGGGGCGCATGAAGCA	0.617													T	8221918	C	T	8221918	3	4	88	1	0	0	0	0	1	0	0	0	898	768	27	1	1848	1	ARHGEF15	17	8221918	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	174818	8221918	72973292	787	58209											
DNAH9	1770	broad.mit.edu	37	chr17	11650994	11650994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatcagatcatgaaacggcGccccgtctggactgacctca	9	14	4	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:11650994G>A	uc002gne.2	+	32	6589	c.6521G>A	c.(6520-6522)CGC>CAC	p.R2174H	DNAH9_uc010coo.2_Missense_Mutation_p.R1468H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2174	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGAAACGGCGCCCCGTCTGG	0.542													A	11650994	G	A	11650994	3	1	88	1	0	0	0	0	1	0	0	0	4608	1087	38	1	6647	1	DNAH9	17	11650994	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	3429076	11650994	69544216	788	58210											
TRIM16	10626	broad.mit.edu	37	chr17	15534998	15534998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatttgcgctgaacaacgGcagacacttgagttctgatg	10	8	1	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:15534998G>A	uc002gox.2	-	8	1603	c.1046C>T	c.(1045-1047)GCC>GTC	p.A349V	TRIM16_uc002gor.1_Missense_Mutation_p.A349V|TRIM16_uc002gow.2_Missense_Mutation_p.A133V|TRIM16_uc002goy.2_Missense_Mutation_p.A219V	NM_006470	NP_006461	O95361	TRI16_HUMAN	tripartite motif-containing 16	349					histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding			ovary(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CTGAACAACGGCAGACACTTG	0.483													A	15534998	G	A	15534998	3	1	88	1	0	0	0	0	1	0	0	0	16488	1203	42	2	656	2	TRIM16	17	15534998	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	3884004	15534998	65660212	789	58211											
SMCR7	125170	broad.mit.edu	37	chr17	18166044	18166044	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggcagaccatggcagagTtctcccagaaacgggggaag	14	10	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:18166044T>C	uc002gst.2	+	2	221	c.10T>C	c.(10-12)TTC>CTC	p.F4L	SMCR7_uc002gsu.2_Missense_Mutation_p.F4L|SMCR7_uc010vxq.1_Missense_Mutation_p.F15L	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN	Smith-Magenis syndrome chromosome region,	4						integral to membrane	protein binding				0	all_neural(463;0.228)					CATGGCAGAGTTCTCCCAGAA	0.672													C	18166044	T	C	18166044	3	2	88	1	0	0	0	0	1	0	0	0	14790	1725	60	3	49	3	SMCR7	17	18166044	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	2631046	18166044	63029166	790	58212											
MAPK7	5598	broad.mit.edu	37	chr17	19286450	19286450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactggctcgaaggccatgGcatgaaccctgccgatattg	12	11	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:19286450G>A	uc002gvn.2	+	7	2743	c.2357G>A	c.(2356-2358)GGC>GAC	p.G786D	MAPK7_uc002gvo.2_Missense_Mutation_p.G647D|MAPK7_uc002gvq.2_Missense_Mutation_p.G786D|MAPK7_uc002gvp.2_Missense_Mutation_p.G786D|uc010vyt.1_5'Flank	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	786	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GAAGGCCATGGCATGAACCCT	0.612													A	19286450	G	A	19286450	3	1	88	1	0	0	0	0	1	0	0	0	9282	1203	42	2	2379	2	MAPK7	17	19286450	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1120406	19286450	61908760	791	58213											
KIAA0100	9703	broad.mit.edu	37	chr17	26958685	26958685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatcagagataaggcgccGcatcactgtgcctgctgaga	11	12	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:26958685G>A	uc002hbu.2	-	23	4210	c.4111C>T	c.(4111-4113)CGG>TGG	p.R1371W		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1371						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					ATAAGGCGCCGCATCACTGTG	0.512													A	26958685	G	A	26958685	3	1	88	1	0	0	0	0	1	0	0	0	8154	1086	38	1	2664	1	KIAA0100	17	26958685	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	7672235	26958685	54236525	792	58214											
SUPT6H	6830	broad.mit.edu	37	chr17	27000493	27000493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaaggcgaggtggtaccccGagtcaccaagaaatttgtgg	14	8	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:27000493G>A	uc002hby.2	+	2	164	c.74G>A	c.(73-75)CGA>CAA	p.R25Q	SUPT6H_uc010crt.2_Missense_Mutation_p.R25Q	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	25	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					GTGGTACCCCGAGTCACCAAG	0.502													A	27000493	G	A	27000493	3	1	88	1	0	0	0	0	1	0	0	0	15397	1058	37	1	76	1	SUPT6H	17	27000493	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	41808	27000493	54194717	793	58215											
NEK8	284086	broad.mit.edu	37	chr17	27068996	27068996	+	Frame_Shift_Del	DEL	C	C	-													gcggtcacagatgagccggtCcccccctgaggcacccggat							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:27068995_27068995TC>T	uc002hcp.3	+	14	2069	c.2069_2069TC>T	c.(2068-2070)gtcfs	p.V690fs	TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.3_5'Flank	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	690						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GATGAGCCGGTCCCCCCCTGA	0.582													-	27068996	C	-	27068996	7	5	88	1	0	1	0	1	0	0	0	0	10330	842	30	0	2128	0	NEK8	17	27068996	Frame_Shift_Del	DEL	C	TCGA-BR-8382-01A-11D-2394-08	68503	27068996	54126214	794	58216											
C17orf63	55731	broad.mit.edu	37	chr17	27086626	27086626	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaaccgggctcgggtgccGtcaaagtccttgagtatgct	13	11	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:27086626G>A	uc002hct.1	-	3	618	c.351C>T	c.(349-351)GAC>GAT	p.D117D	C17orf63_uc010wax.1_Silent_p.D117D|C17orf63_uc010way.1_Silent_p.D117D|C17orf63_uc002hcw.2_Translation_Start_Site	NM_018182	NP_060652	Q8WU58	CQ063_HUMAN	hypothetical protein LOC55731	117										ovary(1)	1	all_epithelial(6;5.06e-20)|Lung NSC(42;0.01)		Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104)			CTCGGGTGCCGTCAAAGTCCT	0.627													A	27086626	G	A	27086626	2	1	88	1	0	0	0	0	0	0	0	1	1871	1136	40	1		1	C17orf63	17	27086626	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	17630	27086626	54108584	795	58217											
SEZ6	124925	broad.mit.edu	37	chr17	27284483	27284483	+	Frame_Shift_Del	DEL	C	C	-													acagatatattgcacggtggCccccacgggaaacttggggc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:27284482_27284482GC>G	uc002hdp.2	-	11	2572	c.2378_2378GC>C	c.(2377-2379)gccfs	p.A793fs	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Frame_Shift_Del_p.A793fs|SEZ6_uc002hdq.1_Frame_Shift_Del_p.A668fs	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	793	Sushi 4.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TTGCACGGTGGCCCCCACGGG	0.602													-	27284483	C	-	27284483	7	5	88	1	0	1	0	1	0	0	0	0	14142	739	26	0	644	0	SEZ6	17	27284483	Frame_Shift_Del	DEL	C	TCGA-BR-8382-01A-11D-2394-08	197857	27284483	53910727	796	58218											
SSH2	85464	broad.mit.edu	37	chr17	27957928	27957928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttcagtctcctaaggggGtgagttctgccgtgttgctg	13	8	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:27957928G>A	uc002heo.1	-	15	4203	c.4203C>T	c.(4201-4203)CAC>CAT	p.H1401H	SSH2_uc010wbh.1_Silent_p.H1428H	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	1401					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						TCCTAAGGGGGTGAGTTCTGC	0.537													A	27957928	G	A	27957928	2	1	88	1	0	0	0	0	0	0	0	1	15184	1252	44	4		4	SSH2	17	27957928	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	673445	27957928	53237282	797	58219											
NF1	4763	broad.mit.edu	37	chr17	29552144	29552144	+	Frame_Shift_Del	DEL	T	T	-													aagttcctgtcactttctccTtttttacggggtaggatgtg							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:29552143_29552143CT>C	uc002hgg.3	+	16	2259	c.1876_1876CT>C	c.(1876-1878)cttfs	p.L626fs	NF1_uc002hgh.3_Frame_Shift_Del_p.L626fs|NF1_uc010csn.2_Frame_Shift_Del_p.L486fs|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	626					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCACTTTCTCCTTTTTTACGG	0.388			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29552144	T	-	29552144	7	5	88	1	0	1	0	1	0	0	0	0	10356	1609	56	0	2004	0	NF1	17	29552144	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	1594216	29552144	51643066	798	58220											
NF1	4763	broad.mit.edu	37	chr17	29576057	29576057	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggaacctccttcagatgactGaaaagttcttccatgccatc	7	12	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:29576057G>T	uc002hgg.2	+	30	4363	c.4030G>T	c.(4030-4032)GAA>TAA	p.E1344*	NF1_uc002hgh.2_Nonsense_Mutation_p.E1344*|NF1_uc010csn.1_Nonsense_Mutation_p.E1204*|NF1_uc002hgi.1_Nonsense_Mutation_p.E377*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1344	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCAGATGACTGAAAAGTTCTT	0.398			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29576057	G	T	29576057	4	4	88	1	0	0	0	0	0	1	0	0	10356	1291	45	5	4209	5	NF1	17	29576057	Nonsense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	23913	29576057	51619153	799	58221											
MYO1D	4642	broad.mit.edu	37	chr17	30821885	30821885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcacttcttcccgtgcagGctgcactgtactgggttggt	13	11	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:30821885G>A	uc002hho.1	-	22	2925	c.2913C>T	c.(2911-2913)AGC>AGT	p.S971S		NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	971						myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TCCCGTGCAGGCTGCACTGTA	0.597													A	30821885	G	A	30821885	2	1	88	1	0	0	0	0	0	0	0	1	10071	1194	42	2		2	MYO1D	17	30821885	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1245828	30821885	50373325	800	58222											
GPR179	440435	broad.mit.edu	37	chr17	36486047	36486047	+	Frame_Shift_Del	DEL	G	G	-													gcctgcttactcaccgccttGggccggcctagcctgggcga							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:36486046_36486046TG>T	uc002hpz.3	-	10	3427	c.3406_3406CA>A	c.(3406-3408)aagfs	p.K1136fs		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1136						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTCACCGCCTTGGGCCGGCCT	0.622													-	36486047	G	-	36486047	7	5	88	1	0	1	0	1	0	0	0	0	6674	1335	47	0	3702	0	GPR179	17	36486047	Frame_Shift_Del	DEL	G	TCGA-BR-8382-01A-11D-2394-08	5664162	36486047	44709163	801	58223											
PSMD3	5709	broad.mit.edu	37	chr17	38151523	38151523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctacaccctaattatccgGctgcggcacaacgtgattaa	7	13	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:38151523G>A	uc002htn.1	+	8	1355	c.1191G>A	c.(1189-1191)CGG>CGA	p.R397R	PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Silent_p.R298R	NM_002809	NP_002800	O43242	PSMD3_HUMAN	proteasome 26S non-ATPase subunit 3	397	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			ovary(1)|pancreas(1)	2	Colorectal(19;0.000442)					TAATTATCCGGCTGCGGCACA	0.547													A	38151523	G	A	38151523	2	1	88	1	0	0	0	0	0	0	0	1	12699	1190	42	2		2	PSMD3	17	38151523	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1665476	38151523	43043687	802	58224											
KRT23	25984	broad.mit.edu	37	chr17	39092549	39092549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgccatttcaggatgcGgctttccagcttcatgttgg	12	10	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:39092549G>A	uc002hvm.1	-	2	896	c.307C>T	c.(307-309)CGC>TGC	p.R103C	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Missense_Mutation_p.R103C|KRT23_uc002hvn.1_Missense_Mutation_p.R103C	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	103	Rod.|Coil 1A.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)				TTCAGGATGCGGCTTTCCAGC	0.542													A	39092549	G	A	39092549	3	1	88	1	0	0	0	0	1	0	0	0	8460	1116	39	1	993	1	KRT23	17	39092549	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	941026	39092549	42102661	803	58225											
KRT23	25984	broad.mit.edu	37	chr17	39092832	39092832	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaggccgagggggtctgGctgaagctgtgtccggagtt	19	7	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:39092832G>A	uc002hvm.1	-	2	613	c.24C>T	c.(22-24)AGC>AGT	p.S8S	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Silent_p.S8S|KRT23_uc002hvn.1_Silent_p.S8S	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	8	Head.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)				AGGGGGTCTGGCTGAAGCTGT	0.701													A	39092832	G	A	39092832	2	1	88	1	0	0	0	0	0	0	0	1	8460	1194	42	2		2	KRT23	17	39092832	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	283	39092832	42102378	804	58226											
ATP6V0A1	535	broad.mit.edu	37	chr17	40652943	40652943	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgttgtattctggacaggTacgtcagcccagaggcagac	12	9	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:40652943T>C	uc002hzr.2	+	16	2063	c.1896_splice	c.e16+2	p.Q632_splice	ATP6V0A1_uc002hzq.2_Splice_Site_p.Q632_splice|ATP6V0A1_uc002hzs.2_Splice_Site_p.Q639_splice|ATP6V0A1_uc010wgj.1_Splice_Site_p.Q589_splice|ATP6V0A1_uc010wgk.1_Splice_Site_p.Q589_splice|ATP6V0A1_uc010cyg.2_Splice_Site_p.Q278_splice|ATP6V0A1_uc010wgl.1_Splice_Site_p.Q491_splice	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TCTGGACAGGTACGTCAGCCC	0.428													C	40652943	T	C	40652943	5	2	88	1	0	0	0	0	0	0	1	0	1168	1652	57	3	1977	3	ATP6V0A1	17	40652943	Splice_Site	SNP	T	TCGA-BR-8382-01A-11D-2394-08	1560111	40652943	40542267	805	58227											
TUBG1	7283	broad.mit.edu	37	chr17	40766300	40766300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagcgtgaggaagaccaCggtcctggatgtcatgaggc	16	10	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:40766300C>T	uc002ian.2	+	9	1264	c.866C>T	c.(865-867)ACG>ATG	p.T289M		NM_001070	NP_001061	P23258	TBG1_HUMAN	tubulin, gamma 1	289					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		AGGAAGACCACGGTCCTGGAT	0.612													T	40766300	C	T	40766300	3	4	88	1	0	0	0	0	1	0	0	0	16761	536	19	1	900	1	TUBG1	17	40766300	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	113357	40766300	40428910	806	58228											
ETV4	2118	broad.mit.edu	37	chr17	41606988	41606988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagctgcagggcaccccGgcgctggtagggcggcccct	15	17	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:41606988G>A	uc002idw.2	-	11	1140	c.1012C>T	c.(1012-1014)CGG>TGG	p.R338W	ETV4_uc002idv.2_Missense_Mutation_p.R61W|ETV4_uc010wih.1_Missense_Mutation_p.R284W|ETV4_uc010czh.2_Missense_Mutation_p.R337W|ETV4_uc010wii.1_Missense_Mutation_p.R299W|ETV4_uc002idx.2_Missense_Mutation_p.R338W|ETV4_uc010wij.1_Missense_Mutation_p.R299W	NM_001986	NP_001977	P43268	ETV4_HUMAN	ets variant gene 4 (E1A enhancer binding	338					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)	bone(4)|soft_tissue(2)|ovary(1)	7		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		AGGGCACCCCGGCGCTGGTAG	0.582			T	EWSR1|TMPRSS2|DDX5|KLK2|CANT1	Ewing sarcoma|Prostate carcinoma								A	41606988	G	A	41606988	3	1	88	1	0	0	0	0	1	0	0	0	5281	1115	39	1	454	1	ETV4	17	41606988	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	840688	41606988	39588222	807	58229											
MEOX1	4222	broad.mit.edu	37	chr17	41719304	41719304	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaacttggagaggctgtggAgtccccatcctcagggtcct	13	11	1	2	rs78282512		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:41719304A>G	uc002idz.2	-	3	768	c.739T>C	c.(739-741)TCC>CCC	p.S247P	MEOX1_uc002iea.2_3'UTR|MEOX1_uc002ieb.2_Missense_Mutation_p.S132P	NM_004527	NP_004518	P50221	MEOX1_HUMAN	mesenchyme homeobox 1 isoform 1	247						nucleus	sequence-specific DNA binding				0		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GAGGCTGTGGAGTCCCCATCC	0.562													G	41719304	A	G	41719304	3	3	88	1	0	0	0	0	1	0	0	0	9473	304	11	3	29	3	MEOX1	17	41719304	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	112316	41719304	39475906	808	58230											
NAGS	162417	broad.mit.edu	37	chr17	42082082	42082082	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgggcagctgctgtagccccGaggctgagaggccggggagg	20	11	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:42082082G>A	uc002ies.2	+	1	51	c.51G>A	c.(49-51)CCG>CCA	p.P17P	PYY_uc002ieq.2_5'Flank|NAGS_uc010czn.2_Silent_p.P17P|NAGS_uc002iet.2_5'Flank	NM_153006	NP_694551	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	17					arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity				0		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	CTGTAGCCCCGAGGCTGAGAG	0.512													A	42082082	G	A	42082082	2	1	88	1	0	0	0	0	0	0	0	1	10145	1045	37	1		1	NAGS	17	42082082	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	362778	42082082	39113128	809	58231											
GPATCH8	23131	broad.mit.edu	37	chr17	42478563	42478563	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacactcccaatttttgcaaTggggtccccagattattctt	7	11	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:42478563T>C	uc002igw.1	-	8	946	c.882A>G	c.(880-882)CCA>CCG	p.P294P	GPATCH8_uc002igv.1_Silent_p.P216P|GPATCH8_uc010wiz.1_Silent_p.P216P	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	294						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATTTTTGCAATGGGGTCCCCA	0.473													C	42478563	T	C	42478563	2	2	88	1	0	0	0	0	0	0	0	1	6594	1451	51	3		3	GPATCH8	17	42478563	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	396481	42478563	38716647	810	58232											
KIAA1267	284058	broad.mit.edu	37	chr17	44172020	44172020	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagccagttccagcggctgAcaatagctgcccggtctgca	12	13	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:44172020A>G	uc002ikb.2	-	2	1422	c.1337T>C	c.(1336-1338)GTC>GCC	p.V446A	KIAA1267_uc002ikc.2_Missense_Mutation_p.V446A|KIAA1267_uc002ikd.2_Missense_Mutation_p.V446A|KIAA1267_uc010dav.2_Missense_Mutation_p.V446A	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	446						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				CCAGCGGCTGACAATAGCTGC	0.438													G	44172020	A	G	44172020	3	3	88	1	0	0	0	0	1	0	0	0	8219	275	10	3	2032	3	KIAA1267	17	44172020	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	1693457	44172020	37023190	811	58233											
WNT3	7473	broad.mit.edu	37	chr17	44847252	44847252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactaacacgccgaagtcaGcgtcctcgctgcagccgccc	9	18	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:44847252G>A	uc002ikv.2	-	3	604	c.485C>T	c.(484-486)GCT>GTT	p.A162V		NM_030753	NP_110380	P56703	WNT3_HUMAN	wingless-type MMTV integration site family,	162					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCCGAAGTCAGCGTCCTCGCT	0.677													A	44847252	G	A	44847252	3	1	88	1	0	0	0	0	1	0	0	0	17385	971	34	2	590	2	WNT3	17	44847252	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	675232	44847252	36347958	812	58234											
RPRML	388394	broad.mit.edu	37	chr17	45056149	45056149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaccacggtaagcgacagCacgcagagcacggcgatctg	13	12	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:45056149C>T	uc002ilb.2	-	1	466	c.225G>A	c.(223-225)GTG>GTA	p.V75V	GOSR2_uc010wkh.1_Intron	NM_203400	NP_981945	Q8N4K4	RPRML_HUMAN	reprimo-like	75	Helical; (Potential).					integral to membrane					0						TAAGCGACAGCACGCAGAGCA	0.692													T	45056149	C	T	45056149	2	4	88	1	0	0	0	0	0	0	0	1	13619	697	25	2		2	RPRML	17	45056149	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	208897	45056149	36139061	813	58235											
KPNB1	3837	broad.mit.edu	37	chr17	45750473	45750473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaaggattgttatcctgCtgtccagaaaacgactttgg	10	9	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:45750473C>T	uc002ilt.1	+	13	1973	c.1637C>T	c.(1636-1638)GCT>GTT	p.A546V	KPNB1_uc010wkw.1_Missense_Mutation_p.A401V|KPNB1_uc010wkx.1_Missense_Mutation_p.A330V	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	546					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TGTTATCCTGCTGTCCAGAAA	0.463													T	45750473	C	T	45750473	3	4	88	1	0	0	0	0	1	0	0	0	8435	797	28	2	1687	2	KPNB1	17	45750473	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	694324	45750473	35444737	814	58236											
HOXB1	3211	broad.mit.edu	37	chr17	46608028	46608028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagcataccccgagggcGcggagctggggaagggcacc	18	12	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:46608028G>A	uc002ink.1	-	1	245	c.239C>T	c.(238-240)GCG>GTG	p.A80V		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	80						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCCCGAGGGCGCGGAGCTGGG	0.662													A	46608028	G	A	46608028	3	1	88	1	0	0	0	0	1	0	0	0	7299	1087	38	1	674	1	HOXB1	17	46608028	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	857555	46608028	34587182	815	58237											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602													-	48433967	C	-	48433967	7	5	88	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-BR-8382-01A-11D-2394-08	1825939	48433967	32761243	816	58238											
ANKRD40	91369	broad.mit.edu	37	chr17	48777241	48777241	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatcatcatcatcatcAtcttcttcttccacttaaaa	0	13	10	0	rs145395652		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:48777241A>T	uc002iso.2	-	3	552	c.297T>A	c.(295-297)GAT>GAA	p.D99E		NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	99	Poly-Asp.										0			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			catcatcatcatcTTCTTCTT	0.358													T	48777241	A	T	48777241	3	4	88	1	0	0	0	0	1	0	0	0	669	214	8	5	821	5	ANKRD40	17	48777241	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	343274	48777241	32417969	817	58239											
CA10	56934	broad.mit.edu	37	chr17	49713241	49713241	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctggttatatagacaggtTtgttcattatgatccaactt	7	7	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:49713241T>G	uc002itw.3	-	7	1750	c.764A>C	c.(763-765)AAA>ACA	p.K255T	CA10_uc002itu.3_Missense_Mutation_p.K184T|CA10_uc002itv.3_Missense_Mutation_p.K261T|CA10_uc002itx.3_Missense_Mutation_p.K255T|CA10_uc002ity.3_Missense_Mutation_p.K255T|CA10_uc002itz.2_Missense_Mutation_p.K255T	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	255					brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			ATAGACAGGTTTGTTCATTAT	0.403													G	49713241	T	G	49713241	3	3	88	1	0	0	0	0	1	0	0	0	2511	1841	64	5	234	5	CA10	17	49713241	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	936000	49713241	31481969	818	58240											
MRPS23	51649	broad.mit.edu	37	chr17	55917278	55917278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttcggatttccgggaaaCgtgactacctccgtgttgct	12	10	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:55917278C>T	uc002ivc.2	-	5	467	c.439G>A	c.(439-441)GTT>ATT	p.V147I		NM_016070	NP_057154	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	147					translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome				0	Breast(9;8.75e-08)					TTCCGGGAAACGTGACTACCT	0.423													T	55917278	C	T	55917278	3	4	88	1	0	0	0	0	1	0	0	0	9834	536	19	1	137	1	MRPS23	17	55917278	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	6204037	55917278	25277932	819	58241											
LPO	4025	broad.mit.edu	37	chr17	56324919	56324919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgccaaaggccggacgcGcacagccatccgcaatggac	12	15	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:56324919G>A	uc002ivt.2	+	4	561	c.245G>A	c.(244-246)CGC>CAC	p.R82H	LPO_uc010dco.2_Missense_Mutation_p.R82H|LPO_uc010wnr.1_Intron|LPO_uc010wns.1_Missense_Mutation_p.R23H|LPO_uc010dcp.2_Intron|LPO_uc010dcq.2_5'Flank	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	82					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2						GGCCGGACGCGCACAGCCATC	0.567													A	56324919	G	A	56324919	3	1	88	1	0	0	0	0	1	0	0	0	8922	1087	38	1	255	1	LPO	17	56324919	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	407641	56324919	24870291	820	58242											
BZRAP1	9256	broad.mit.edu	37	chr17	56382464	56382464	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggttccctgtccaggccGcctgcctcaggcccagggcc	13	18	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:56382464G>A	uc002ivx.3	-	30	6373	c.5502C>T	c.(5500-5502)GGC>GGT	p.G1834G	BZRAP1_uc002ivv.2_Silent_p.G64G|BZRAP1_uc002ivw.2_Silent_p.G66G|BZRAP1_uc010dcs.2_Silent_p.G1774G|BZRAP1_uc010wnt.1_Silent_p.G1825G	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	1834						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTCCAGGCCGCCTGCCTCAG	0.627													A	56382464	G	A	56382464	2	1	88	1	0	0	0	0	0	0	0	1	1577	1074	38	1		1	BZRAP1	17	56382464	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	57545	56382464	24812746	821	58243											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	88	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-BR-8382-01A-11D-2394-08	52697	56435161	24760049	822	58244											
RPS6KB1	6198	broad.mit.edu	37	chr17	58024111	58024111	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacaagcttttcccatgAtctccaaacggccagagcac	6	13	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:58024111A>G	uc002ixy.2	+	15	1643	c.1540A>G	c.(1540-1542)ATC>GTC	p.I514V	RPS6KB1_uc010ddj.1_Intron|RPS6KB1_uc010wom.1_Missense_Mutation_p.I461V|RPS6KB1_uc010won.1_Missense_Mutation_p.I491V|RPS6KB1_uc010woo.1_Missense_Mutation_p.I449V|RPS6KB1_uc002ixz.2_RNA	NM_003161	NP_003152	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	514	Autoinhibitory domain.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			large_intestine(1)	1	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			TTTTCCCATGATCTCCAAACG	0.468													G	58024111	A	G	58024111	3	3	88	1	0	0	0	0	1	0	0	0	13656	333	12	3	1598	3	RPS6KB1	17	58024111	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	1588950	58024111	23171099	823	58245											
ACE	1636	broad.mit.edu	37	chr17	61557711	61557711	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccaggcttcacagacacGggggcctactggcgctcctg	12	17	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:61557711G>A	uc002jau.1	+	5	691	c.669G>A	c.(667-669)ACG>ACA	p.T223T	ACE_uc010wpi.1_Silent_p.T223T|ACE_uc010ddu.1_Silent_p.T40T	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	223	Extracellular (Potential).|Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TCACAGACACGGGGGCCTACT	0.612													A	61557711	G	A	61557711	2	1	88	1	0	0	0	0	0	0	0	1	136	1103	39	1		1	ACE	17	61557711	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	3533600	61557711	19637499	824	58246											
ERN1	2081	broad.mit.edu	37	chr17	62131738	62131738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctggacctcacggtctgCgaagctaaaacactcgggga	12	12	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:62131738C>T	uc002jdz.2	-	15	1938	c.1825G>A	c.(1825-1827)GCA>ACA	p.A609T		NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	609	Cytoplasmic (Potential).|Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						TCACGGTCTGCGAAGCTAAAA	0.577													T	62131738	C	T	62131738	3	4	88	1	0	0	0	0	1	0	0	0	5237	768	27	1	1140	1	ERN1	17	62131738	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	574027	62131738	19063472	825	58247											
CACNG1	786	broad.mit.edu	37	chr17	65040929	65040929	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctgcgaggcggcccacttCggcctctggcggatttgtac	13	14	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:65040929C>T	uc002jfu.2	+	1	224	c.153C>T	c.(151-153)TTC>TTT	p.F51F		NM_000727	NP_000718	Q06432	CCG1_HUMAN	voltage-dependent calcium channel gamma-1	51					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	CGGCCCACTTCGGCCTCTGGC	0.657													T	65040929	C	T	65040929	2	4	88	1	0	0	0	0	0	0	0	1	2556	883	31	1		1	CACNG1	17	65040929	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2909191	65040929	16154281	826	58248											
HELZ	9931	broad.mit.edu	37	chr17	65199438	65199438	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagcttatcaacataccagGgactctcctgtgagtgactt	9	10	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:65199438G>T	uc010wqk.1	-	6	556	c.369C>A	c.(367-369)TCC>TCA	p.S123S	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Silent_p.S123S|HELZ_uc010des.1_Silent_p.S123S	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AACATACCAGGGACTCTCCTG	0.408													T	65199438	G	T	65199438	2	4	88	1	0	0	0	0	0	0	0	1	7049	1219	43	5		5	HELZ	17	65199438	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	158509	65199438	15995772	827	58249											
PSMD12	5718	broad.mit.edu	37	chr17	65344745	65344745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgctaatgttttagtcagtCgcgcacgctcaatttcaaca	7	10	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:65344745C>T	uc002jfy.2	-	5	517	c.431G>A	c.(430-432)CGA>CAA	p.R144Q	PSMD12_uc002jga.2_Missense_Mutation_p.R124Q|PSMD12_uc002jfz.2_Missense_Mutation_p.R85Q|PSMD12_uc010det.1_Missense_Mutation_p.R144Q	NM_002816	NP_002807	O00232	PSD12_HUMAN	proteasome 26S non-ATPase subunit 12 isoform 1	144					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding				0	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TTTAGTCAGTCGCGCACGCTC	0.308													T	65344745	C	T	65344745	3	4	88	1	0	0	0	0	1	0	0	0	12695	884	31	1	967	1	PSMD12	17	65344745	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	145307	65344745	15850465	828	58250											
ABCA6	23460	broad.mit.edu	37	chr17	67099024	67099024	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattgtatgagaggccatcAgtaccatttctgttttcaaa	7	9	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:67099024A>C	uc002jhw.1	-	21	3001	c.2826T>G	c.(2824-2826)ACT>ACG	p.T942T		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	942					transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					AGAGGCCATCAGTACCATTTC	0.284													C	67099024	A	C	67099024	2	2	88	1	0	0	0	0	0	0	0	1	36	175	7	5		5	ABCA6	17	67099024	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	1754279	67099024	14096186	829	58251											
ABCA10	10349	broad.mit.edu	37	chr17	67183901	67183901	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atagatttgtcgtctccagaGagctgcactactgacagcct	9	11	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:67183901G>T	uc010dfa.1	-	20	3130	c.2251C>A	c.(2251-2253)CTC>ATC	p.L751I	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.L352I	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	751					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					CGTCTCCAGAGAGCTGCACTA	0.403													T	67183901	G	T	67183901	3	4	88	1	0	0	0	0	1	0	0	0	29	942	33	5	2464	5	ABCA10	17	67183901	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	84877	67183901	14011309	830	58252											
SDK2	54549	broad.mit.edu	37	chr17	71346827	71346827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtacttcttgctctggcccCggatgatgagcacgaagacc	11	13	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:71346827C>T	uc010dfm.2	-	42	5861	c.5861G>A	c.(5860-5862)CGG>CAG	p.R1954Q	SDK2_uc002jjt.3_Missense_Mutation_p.R1094Q	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1954	Cytoplasmic (Potential).				cell adhesion	integral to membrane				ovary(2)	2						GCTCTGGCCCCGGATGATGAG	0.542													T	71346827	C	T	71346827	3	4	88	1	0	0	0	0	1	0	0	0	13969	652	23	1	673	1	SDK2	17	71346827	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	4162926	71346827	9848383	831	58253											
TMEM104	54868	broad.mit.edu	37	chr17	72781738	72781738	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtgttcctgggcttcAtgaggtgagaggcagcgggg	19	7	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:72781738A>G	uc002jls.3	+	3	325	c.163A>G	c.(163-165)ATG>GTG	p.M55V	TMEM104_uc010wrf.1_Missense_Mutation_p.M55V|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Missense_Mutation_p.M55V	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	55	Helical; (Potential).					integral to membrane					0	all_lung(278;0.23)					CCTGGGCTTCATGAGGTGAGA	0.647													G	72781738	A	G	72781738	3	3	88	1	0	0	0	0	1	0	0	0	16015	217	8	3	169	3	TMEM104	17	72781738	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	1434911	72781738	8413472	832	58254											
TMEM104	54868	broad.mit.edu	37	chr17	72832492	72832492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaagacactcttccaccGcgagggcggcacgtacccgt	12	15	1	1	rs146415645		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:72832492G>A	uc002jls.3	+	10	1319	c.1157G>A	c.(1156-1158)CGC>CAC	p.R386H	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Missense_Mutation_p.R386H	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	386	Cytoplasmic (Potential).					integral to membrane					0	all_lung(278;0.23)					CTCTTCCACCGCGAGGGCGGC	0.632													A	72832492	G	A	72832492	3	1	88	1	0	0	0	0	1	0	0	0	16015	1087	38	1	1191	1	TMEM104	17	72832492	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	50754	72832492	8362718	833	58255											
GALR2	8811	broad.mit.edu	37	chr17	74072970	74072970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttctcggcctgacctacGcgcgcaccttgcgctacctc	10	17	1	1	rs142971884		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:74072970G>A	uc002jqm.1	+	2	703	c.622G>A	c.(622-624)GCG>ACG	p.A208T	ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	208	Helical; Name=5; (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0						CCTGACCTACGCGCGCACCTT	0.697													A	74072970	G	A	74072970	3	1	88	1	0	0	0	0	1	0	0	0	6228	1087	38	1	628	1	GALR2	17	74072970	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1240478	74072970	7122240	834	58256											
CCDC40	55036	broad.mit.edu	37	chr17	78059814	78059814	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggtctagggggaagaagtgGggcccctggagcttgaaatc	17	8	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:78059814G>T	uc010dht.2	+	14	2275	c.2248G>T	c.(2248-2250)GGG>TGG	p.G750W	CCDC40_uc002jxm.3_Missense_Mutation_p.G533W|CCDC40_uc002jxn.3_Missense_Mutation_p.G146W	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	750	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGAAGAAGTGGGGCCCCTGGA	0.408													T	78059814	G	T	78059814	3	4	88	1	0	0	0	0	1	0	0	0	2812	1232	43	5	2302	5	CCDC40	17	78059814	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	3986844	78059814	3135396	835	58257											
SLC26A11	284129	broad.mit.edu	37	chr17	78210884	78210884	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagccaacgggacgatctcCttcaccgagatggtgcaggt	12	12	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:78210884C>A	uc002jyb.1	+	8	1163	c.894C>A	c.(892-894)TCC>TCA	p.S298S	SLC26A11_uc002jyc.1_Silent_p.S298S|SLC26A11_uc002jyd.1_Silent_p.S298S|SLC26A11_uc010dhv.1_Silent_p.S298S	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	solute carrier family 26, member 11	298	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity				0	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGACGATCTCCTTCACCGAGA	0.647													A	78210884	C	A	78210884	2	1	88	1	0	0	0	0	0	0	0	1	14516	668	24	5		5	SLC26A11	17	78210884	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	151070	78210884	2984326	836	58258											
P4HB	5034	broad.mit.edu	37	chr17	79804412	79804412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcctccagggtgatgaGgcgcacggccgggcactctt	13	15	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:79804412G>A	uc002kbn.1	-	7	1146	c.949C>T	c.(949-951)CTC>TTC	p.L317F	P4HB_uc002kbl.1_5'UTR|P4HB_uc002kbm.1_5'UTR	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	317					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			AGGGTGATGAGGCGCACGGCC	0.592													A	79804412	G	A	79804412	3	1	88	1	0	0	0	0	1	0	0	0	11359	1000	35	4	597	4	P4HB	17	79804412	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1593528	79804412	1390798	837	58259											
FASN	2194	broad.mit.edu	37	chr17	80045689	80045689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgggggtggggctttccGggtggtcgaagagcctgggg	23	6	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:80045689G>A	uc002kdu.2	-	19	3032	c.2915C>T	c.(2914-2916)CCG>CTG	p.P972L	FASN_uc002kdw.1_Missense_Mutation_p.P188L	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	972					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGGGCTTTCCGGGTGGTCGAA	0.652													A	80045689	G	A	80045689	3	1	88	1	0	0	0	0	1	0	0	0	5683	1116	39	1	4720	1	FASN	17	80045689	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	241277	80045689	1149521	838	58260											
SECTM1	6398	broad.mit.edu	37	chr17	80280150	80280150	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggggtgggctcggagtctgGggtccacagttcagcggagg	20	8	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:80280150G>T	uc002keo.2	-	5	1032	c.634C>A	c.(634-636)CCA>ACA	p.P212T	SECTM1_uc002ken.2_Missense_Mutation_p.P210T|SECTM1_uc002kep.2_3'UTR	NM_003004	NP_002995	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1 precursor	212	Cytoplasmic (Potential).				immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity				0	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			TCGGAGTCTGGGGTCCACAGT	0.622													T	80280150	G	T	80280150	3	4	88	1	0	0	0	0	1	0	0	0	14008	1232	43	5	116	5	SECTM1	17	80280150	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	234461	80280150	915060	839	58261											
USP14	9097	broad.mit.edu	37	chr18	203146	203147	+	Frame_Shift_Ins	INS	-	-	T													gaccattcagatggttcgatINSttttttataaagagaaggaa							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:203145_203146A>AT	uc002kkf.1	+	11	1206_1207	c.990_991A>AT	c.(988-993)cgatttfs	p.R330fs	USP14_uc002kkg.1_Frame_Shift_Ins_p.R295fs|USP14_uc010wyr.1_Frame_Shift_Ins_p.R319fs	NM_005151	NP_005142	P54578	UBP14_HUMAN	Homo sapiens ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) (USP14), transcript variant 1, mRNA.	330					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AGATGGTTCGATTTTTTTATAA	0.342													T	203147	-	T	203146	7	5	88	1	0	1	1	0	0	0	0	0	17042	1493	52	0	1037	0	USP14	18	203146	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08		203146	77874102	840	58262											
TGIF1	7050	broad.mit.edu	37	chr18	3452168	3452168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctaccttcccccagcgcCgtggtcctccctggcgaccc	10	21	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:3452168C>T	uc002klz.2	+	1	578	c.191C>T	c.(190-192)CCG>CTG	p.P64L	TGIF1_uc002klu.2_Intron|TGIF1_uc002klv.2_Intron|TGIF1_uc002klx.2_Intron|TGIF1_uc002klw.2_Intron|TGIF1_uc010dkm.1_Intron|TGIF1_uc002kly.2_Intron|TGIF1_uc002kma.2_Intron|TGIF1_uc002kmb.2_5'Flank	NM_170695	NP_733796	Q15583	TGIF1_HUMAN	TG-interacting factor isoform a	64					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				CCCCCAGCGCCGTGGTCCTCC	0.736													T	3452168	C	T	3452168	3	4	88	1	0	0	0	0	1	0	0	0	15822	652	23	1	275	1	TGIF1	18	3452168	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	3249022	3452168	74625080	841	58263											
EPB41L3	23136	broad.mit.edu	37	chr18	5406836	5406836	+	Frame_Shift_Del	DEL	G	G	-													tgcctggcggccagtcgcacGggggaggtggaaagcctctt					rs142982382		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:5406835_5406835CG>C	uc002kmt.1	-	15	2376	c.2290_2290CG>G	c.(2290-2292)gtgfs	p.V764fs	EPB41L3_uc010wzh.1_Frame_Shift_Del_p.V595fs|EPB41L3_uc002kmu.1_Frame_Shift_Del_p.V583fs|EPB41L3_uc010dkq.1_Frame_Shift_Del_p.V474fs|EPB41L3_uc002kms.1_Frame_Shift_Del_p.V36fs|EPB41L3_uc010wze.1_Frame_Shift_Del_p.V36fs|EPB41L3_uc010wzf.1_Frame_Shift_Del_p.V36fs|EPB41L3_uc010wzg.1_Frame_Shift_Del_p.V36fs|EPB41L3_uc010dkr.2_Frame_Shift_Del_p.V156fs	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	764	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCCAGTCGCACGGGGGAGGTG	0.512													-	5406836	G	-	5406836	7	5	88	1	0	1	0	1	0	0	0	0	5154	1103	39	0	1002	0	EPB41L3	18	5406836	Frame_Shift_Del	DEL	G	TCGA-BR-8382-01A-11D-2394-08	1954668	5406836	72670412	842	58264											
RIOK3	8780	broad.mit.edu	37	chr18	21044006	21044006	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgctggctcagatgctacaGatggaatatgacagagaata	11	6	1	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:21044006G>A	uc002kui.3	+	3	872	c.255G>A	c.(253-255)CAG>CAA	p.Q85Q	RIOK3_uc010dls.2_Silent_p.Q85Q|RIOK3_uc010xas.1_Silent_p.Q69Q|RIOK3_uc010xat.1_5'Flank	NM_003831	NP_003822	O14730	RIOK3_HUMAN	sudD suppressor of bimD6 homolog	85					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGATGCTACAGATGGAATATG	0.353													A	21044006	G	A	21044006	2	1	88	1	0	0	0	0	0	0	0	1	13379	933	33	4		4	RIOK3	18	21044006	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	15637170	21044006	57033242	843	58265											
C18orf8	29919	broad.mit.edu	37	chr18	21095895	21095895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attggtacatgtactgccccGagagcgccgtgatcttgctg	12	11	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:21095895G>A	uc010xax.1	+	6	605	c.484G>A	c.(484-486)GAG>AAG	p.E162K	C18orf8_uc010xau.1_Missense_Mutation_p.E5K|C18orf8_uc010xav.1_Missense_Mutation_p.E114K|C18orf8_uc010xaw.1_Missense_Mutation_p.E5K|C18orf8_uc002kul.2_RNA	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	162										ovary(1)	1	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTACTGCCCCGAGAGCGCCGT	0.473											OREG0024894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	21095895	G	A	21095895	3	1	88	1	0	0	0	0	1	0	0	0	1907	1059	37	1	506	1	C18orf8	18	21095895	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	51889	21095895	56981353	844	58266											
ZNF521	25925	broad.mit.edu	37	chr18	22805689	22805689	+	Frame_Shift_Del	DEL	A	A	-													tgaatggagacttttgagtcAaaaacttcctggcagagggt							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:22805688_22805688CA>C	uc002kvk.2	-	3	2441	c.2194_2194TG>G	c.(2194-2196)gacfs	p.D732fs	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Frame_Shift_Del_p.D732fs|ZNF521_uc002kvl.2_Frame_Shift_Del_p.D512fs	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	732					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ACTTTTGAGTCAAAAACTTCC	0.468			T	PAX5	ALL								-	22805689	A	-	22805689	7	5	88	1	0	1	0	1	0	0	0	0	17962	127	5	0	1762	0	ZNF521	18	22805689	Frame_Shift_Del	DEL	A	TCGA-BR-8382-01A-11D-2394-08	1709794	22805689	55271559	845	58267											
DSC2	1824	broad.mit.edu	37	chr18	28654723	28654723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactaaagtcaaagggtgggCcatggataggctcatcagga	14	7	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:28654723C>T	uc002kwl.3	-	12	2268	c.1814G>A	c.(1813-1815)GGC>GAC	p.G605D	DSC2_uc002kwk.3_Missense_Mutation_p.G605D	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	605	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AAAGGGTGGGCCATGGATAGG	0.413													T	28654723	C	T	28654723	3	4	88	1	0	0	0	0	1	0	0	0	4766	739	26	2	951	2	DSC2	18	28654723	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	5849034	28654723	49422525	846	58268											
ZNF397OS	100101467	broad.mit.edu	37	chr18	32844198	32844198	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atacctcttggctccaggggTtttcctgaaggccaaagtcc	10	12	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:32844198T>G	uc002kym.2	-	2	347	c.119A>C	c.(118-120)AAC>ACC	p.N40T	ZNF397_uc010dmr.2_Intron|ZNF397OS_uc010xce.1_Missense_Mutation_p.N40T|ZNF397OS_uc002kyn.1_Missense_Mutation_p.N40T	NM_001112734	NP_001106205	Q86W11	ZSC30_HUMAN	zinc finger protein 397 opposite strand	40					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GCTCCAGGGGTTTTCCTGAAG	0.517													G	32844198	T	G	32844198	3	3	88	1	0	0	0	0	1	0	0	0	17881	1725	60	5	1377	5	ZNF397OS	18	32844198	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	4189475	32844198	45233050	847	58269											
SLC14A2	8170	broad.mit.edu	37	chr18	43204714	43204714	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcagagtttaccagcccgAgctggccctcgacatccccg	11	16	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:43204714A>G	uc010dnj.2	+	3	406	c.85A>G	c.(85-87)AGC>GGC	p.S29G	SLC14A2_uc002lbb.2_Missense_Mutation_p.S29G|SLC14A2_uc002lbe.2_Missense_Mutation_p.S29G	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	29						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						TACCAGCCCGAGCTGGCCCTC	0.572													G	43204714	A	G	43204714	3	3	88	1	0	0	0	0	1	0	0	0	14397	304	11	3	87	3	SLC14A2	18	43204714	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	10360516	43204714	34872534	848	58270											
PIAS2	9063	broad.mit.edu	37	chr18	44416357	44416358	+	Frame_Shift_Ins	INS	-	-	CA													tcataggcagcttttttgtcINSacacacaggacaaatccagg							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:44416356_44416357T>TCA	uc002lck.3	-	8	1352_1353	c.1165_1166A>TGA	c.(1165-1167)gacfs	p.D389fs	PIAS2_uc010dnp.3_Frame_Shift_Ins_p.D87fs|PIAS2_uc010xda.2_Frame_Shift_Ins_p.D87fs|PIAS2_uc002lcl.3_Frame_Shift_Ins_p.D389fs|PIAS2_uc002lcm.3_Frame_Shift_Ins_p.D389fs|PIAS2_uc002lcn.1_Frame_Shift_Ins_p.D393fs	NM_004671	NP_004662	O75928	PIAS2_HUMAN	Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA.	389					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						AGCTTTTTTGTCACACACAGGA	0.416													CA	44416358	-	CA	44416357	7	5	88	1	0	1	1	0	0	0	0	0	11876	826	29	0	799	0	PIAS2	18	44416357	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	1211643	44416357	33660891	849	58271											
CXXC1	30827	broad.mit.edu	37	chr18	47810401	47810401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgttcgagcagcttcttgcCgtgctcttcagcaatgcaag	11	12	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:47810401C>T	uc002leq.3	-	10	2009	c.1276G>A	c.(1276-1278)GGC>AGC	p.G426S	MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc010xdi.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.G283S|CXXC1_uc002ler.3_Missense_Mutation_p.G430S|CXXC1_uc010doy.2_Missense_Mutation_p.G426S|CXXC1_uc002les.2_Missense_Mutation_p.G426S	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	426	Potential.				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						AGCTTCTTGCCGTGCTCTTCA	0.577													T	47810401	C	T	47810401	3	4	88	1	0	0	0	0	1	0	0	0	4097	652	23	1	718	1	CXXC1	18	47810401	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	3394044	47810401	30266847	850	58272											
DCC	1630	broad.mit.edu	37	chr18	50832030	50832030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaattcgacacagaaagaCgacccgcaggggtgagatgg	13	8	0	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:50832030C>T	uc002lfe.1	+	13	2581	c.1994C>T	c.(1993-1995)ACG>ATG	p.T665M	DCC_uc010xdr.1_Missense_Mutation_p.T513M|DCC_uc010dpf.1_Missense_Mutation_p.T320M	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	665	Extracellular (Potential).|Fibronectin type-III 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACAGAAAGACGACCCGCAGG	0.438													T	50832030	C	T	50832030	3	4	88	1	0	0	0	0	1	0	0	0	4282	536	19	1	2044	1	DCC	18	50832030	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	3021629	50832030	27245218	851	58273											
ALPK2	115701	broad.mit.edu	37	chr18	56184321	56184321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaaagtgcagctcctccGtggcgatctgaccacgcagg	11	15	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:56184321G>A	uc002lhj.3	-	9	5973	c.5759C>T	c.(5758-5760)ACG>ATG	p.T1920M		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1920	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						CAGCTCCTCCGTGGCGATCTG	0.547													A	56184321	G	A	56184321	3	1	88	1	0	0	0	0	1	0	0	0	545	1145	40	1	773	1	ALPK2	18	56184321	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	5352291	56184321	21892927	852	58274											
PHLPP1	23239	broad.mit.edu	37	chr18	60645706	60645706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgatgccctggctgctgCcaagaagctgtgtaccctgg	13	14	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:60645706C>T	uc002lis.2	+	18	2838	c.2660C>T	c.(2659-2661)GCC>GTC	p.A887V		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	1399	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0						CTGGCTGCTGCCAAGAAGCTG	0.622													T	60645706	C	T	60645706	3	4	88	1	0	0	0	0	1	0	0	0	11854	739	26	2	4262	2	PHLPP1	18	60645706	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	4461385	60645706	17431542	853	58275											
PARD6G	84552	broad.mit.edu	37	chr18	77917987	77917987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccgtccgagggcggtccCgagctgcccaacgcgcggcc	16	17	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:77917987C>T	uc002lny.2	-	3	964	c.798G>A	c.(796-798)TCG>TCA	p.S266S	LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfn.1_Intron|LOC100130522_uc010xfo.1_Intron	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	PAR-6 gamma protein	266					cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding				0		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		AGGGCGGTCCCGAGCTGCCCA	0.701													T	77917987	C	T	77917987	2	4	88	1	0	0	0	0	0	0	0	1	11447	639	23	1		1	PARD6G	18	77917987	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	17272281	77917987	159261	854	58276											
POLRMT	5442	broad.mit.edu	37	chr19	618551	618551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagtggatgaagttgggcGggaagccgttcttctgctta	16	7	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:618551G>A	uc002lpf.1	-	17	3415	c.3359C>T	c.(3358-3360)CCG>CTG	p.P1120L		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	1120	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGTTGGGCGGGAAGCCGTT	0.657													A	618551	G	A	618551	3	1	88	1	0	0	0	0	1	0	0	0	12238	1116	39	1	353	1	POLRMT	19	618551	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08		618551	58510432	855	58277											
ABCA7	10347	broad.mit.edu	37	chr19	1049320	1049320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtctccgttcgcagcctGgagaagcgctttcctggaag	14	12	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:1049320G>A	uc002lqw.3	+	18	2667	c.2436G>A	c.(2434-2436)CTG>CTA	p.L812L	ABCA7_uc010dsb.1_Silent_p.L674L	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	812	ABC transporter 1.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCGCAGCCTGGAGAAGCGCT	0.672													A	1049320	G	A	1049320	2	1	88	1	0	0	0	0	0	0	0	1	37	1335	47	4		4	ABCA7	19	1049320	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	430769	1049320	58079663	856	58278											
CHAF1A	10036	broad.mit.edu	37	chr19	4433428	4433428	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaagaggacagtggcagCgtcccctccacggggcccag	13	16	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:4433428C>T	uc002mal.2	+	13	2665	c.2565C>T	c.(2563-2565)AGC>AGT	p.S855S		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	855	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGTGGCAGCGTCCCCTCCA	0.642								Chromatin_Structure					T	4433428	C	T	4433428	2	4	88	1	0	0	0	0	0	0	0	1	3311	767	27	1		1	CHAF1A	19	4433428	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	3384108	4433428	54695555	857	58279											
SEMA6B	10501	broad.mit.edu	37	chr19	4550161	4550161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtccgcaggatccagggCgcatggcccagcgagggcac	17	13	0	0	rs144907430		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:4550161C>T	uc010duc.1	-	11	1283	c.1245G>A	c.(1243-1245)GCG>GCA	p.A415A	SEMA6B_uc010dud.2_Silent_p.A415A|SEMA6B_uc010xih.1_Silent_p.A415A	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	415	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATCCAGGGCGCATGGCCCA	0.627													T	4550161	C	T	4550161	2	4	88	1	0	0	0	0	0	0	0	1	14040	755	27	1		1	SEMA6B	19	4550161	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	116733	4550161	54578822	858	58280											
FBN3	84467	broad.mit.edu	37	chr19	8161800	8161800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggcgacagtttgtaccctCgggtgcacttgcagcggtag	14	11	0	0	rs143230386	by1000genomes	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:8161800C>T	uc002mjf.2	-	42	5399	c.5378G>A	c.(5377-5379)CGA>CAA	p.R1793Q		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1793	EGF-like 27; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						TTTGTACCCTCGGGTGCACTT	0.607													T	8161800	C	T	8161800	3	4	88	1	0	0	0	0	1	0	0	0	5704	884	31	1	3139	1	FBN3	19	8161800	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	3611639	8161800	50967183	859	58281											
FBN3	84467	broad.mit.edu	37	chr19	8176580	8176580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctggcggcaggtgcagcGgtaggagccagggacattga	18	10	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:8176580G>A	uc002mjf.2	-	31	4057	c.4036C>T	c.(4036-4038)CGC>TGC	p.R1346C		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1346	EGF-like 20; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CAGGTGCAGCGGTAGGAGCCA	0.652													A	8176580	G	A	8176580	3	1	88	1	0	0	0	0	1	0	0	0	5704	1116	39	1	4525	1	FBN3	19	8176580	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	14780	8176580	50952403	860	58282											
CDC37	11140	broad.mit.edu	37	chr19	10503977	10503977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgacggggtccaggccgccGgggccgagccgcttcttgcg	17	15	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:10503977G>A	uc002mof.1	-	6	983	c.867C>T	c.(865-867)CCC>CCT	p.P289P	CDC37_uc002moe.1_Silent_p.P244P|CDC37_uc010dxf.1_Silent_p.P126P|CDC37_uc002mog.1_Intron|CDC37_uc002moh.2_Silent_p.P289P	NM_007065	NP_008996	Q16543	CDC37_HUMAN	cell division cycle 37 protein	289					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding				0			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CCAGGCCGCCGGGGCCGAGCC	0.706													A	10503977	G	A	10503977	2	1	88	1	0	0	0	0	0	0	0	1	3068	1103	39	1		1	CDC37	19	10503977	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2327397	10503977	48625006	861	58283											
SLC44A2	57153	broad.mit.edu	37	chr19	10738649	10738649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accccactgacagccggggcGagttctgcgggcagaagggc	16	13	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:10738649G>A	uc002mpf.2	+	4	353	c.214G>A	c.(214-216)GAG>AAG	p.E72K	SLC44A2_uc002mpe.3_Missense_Mutation_p.E70K	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	solute carrier family 44, member 2 isoform 1	72	Extracellular (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			ovary(1)	1			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CAGCCGGGGCGAGTTCTGCGG	0.582													A	10738649	G	A	10738649	3	1	88	1	0	0	0	0	1	0	0	0	14636	1059	37	1	263	1	SLC44A2	19	10738649	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	234672	10738649	48390334	862	58284											
KANK2	25959	broad.mit.edu	37	chr19	11303908	11303908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaccttggcggcgagggcaGcctccccatcaggcatgccc	13	17	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:11303908G>A	uc010dxv.2	-	6	1406	c.848C>T	c.(847-849)GCT>GTT	p.A283V	KANK2_uc002mqm.2_Missense_Mutation_p.A283V|KANK2_uc002mqo.3_Missense_Mutation_p.A283V|KANK2_uc002mqp.1_Missense_Mutation_p.A92V|KANK2_uc002mqq.2_Missense_Mutation_p.A283V	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1	283	Potential.										0						GGCGAGGGCAGCCTCCCCATC	0.692													A	11303908	G	A	11303908	3	1	88	1	0	0	0	0	1	0	0	0	7977	971	34	2	1771	2	KANK2	19	11303908	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	565259	11303908	47825075	863	58285											
RGL3	57139	broad.mit.edu	37	chr19	11508131	11508131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcccctcaccaagatgcttCgatacaggttcccgtggtca	9	14	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:11508131C>T	uc002mrp.2	-	17	1953	c.1889G>A	c.(1888-1890)CGA>CAA	p.R630Q	RGL3_uc002mrn.2_Missense_Mutation_p.R394Q|RGL3_uc002mrm.2_Missense_Mutation_p.R394Q|RGL3_uc002mro.2_Missense_Mutation_p.R636Q	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	630	Interaction with HRAS, MRAS and RIT1 (By similarity).|Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1						CAAGATGCTTCGATACAGGTT	0.677													T	11508131	C	T	11508131	3	4	88	1	0	0	0	0	1	0	0	0	13278	884	31	1	255	1	RGL3	19	11508131	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	204223	11508131	47620852	864	58286											
ZNF441	126068	broad.mit.edu	37	chr19	11891996	11891996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctataaatgtaaacaatgcGgaaaagccttcaggtcttcc	7	10	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:11891996G>A	uc010dyj.2	+	4	1551	c.1357G>A	c.(1357-1359)GGA>AGA	p.G453R	ZNF441_uc002msn.3_Missense_Mutation_p.G409R	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	453	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TAAACAATGCGGAAAAGCCTT	0.383													A	11891996	G	A	11891996	3	1	88	1	0	0	0	0	1	0	0	0	17911	1117	39	1	1371	1	ZNF441	19	11891996	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	383865	11891996	47236987	865	58287											
ZNF563	147837	broad.mit.edu	37	chr19	12430297	12430297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtcttcgaaggtttctaCgagaactgaaggtttttcca	10	7	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:12430297C>T	uc002mtp.2	-	4	780	c.542G>A	c.(541-543)CGT>CAT	p.R181H	ZNF563_uc002mtq.2_Missense_Mutation_p.R181H	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	zinc finger protein 563	181	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAGGTTTCTACGAGAACTGAA	0.423													T	12430297	C	T	12430297	3	4	88	1	0	0	0	0	1	0	0	0	17991	536	19	1	892	1	ZNF563	19	12430297	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	538301	12430297	46698686	866	58288											
PRDX2	7001	broad.mit.edu	37	chr19	12911023	12911023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcatctgttttcagcacGccgtaatcctcagacaagcg	7	15	4	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:12911023G>A	uc002mvd.2	-	4	498	c.348C>T	c.(346-348)GGC>GGT	p.G116G		NM_005809	NP_005800	P32119	PRDX2_HUMAN	peroxiredoxin 2 isoform a	116	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity				0						TTTTCAGCACGCCGTAATCCT	0.617													A	12911023	G	A	12911023	2	1	88	1	0	0	0	0	0	0	0	1	12465	1074	38	1		1	PRDX2	19	12911023	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	480726	12911023	46217960	867	58289											
MAST1	22983	broad.mit.edu	37	chr19	12979551	12979551	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttggttctgcgccgggcGcggcaccagcagatgtcagg	16	12	2	1	rs142536814	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:12979551G>A	uc002mvm.2	+	21	2789	c.2661G>A	c.(2659-2661)GCG>GCA	p.A887A		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	887					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						TGCGCCGGGCGCGGCACCAGC	0.597													A	12979551	G	A	12979551	2	1	88	1	0	0	0	0	0	0	0	1	9324	1074	38	1		1	MAST1	19	12979551	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	68528	12979551	46149432	868	58290											
LPHN1	22859	broad.mit.edu	37	chr19	14270398	14270398	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactgtctccaccacggccTgcacaggcagagggcatggt	12	15	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:14270398T>G	uc010xnn.1	-	11	2151	c.1855_splice	c.e11-1	p.A619_splice	LPHN1_uc010xno.1_Splice_Site_p.A614_splice|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						CACCACGGCCTGCACAGGCAG	0.622													G	14270398	T	G	14270398	5	3	88	1	0	0	0	0	0	0	1	0	8915	1594	55	5	2627	5	LPHN1	19	14270398	Splice_Site	SNP	T	TCGA-BR-8382-01A-11D-2394-08	1290847	14270398	44858585	869	58291											
CIB3	117286	broad.mit.edu	37	chr19	16275720	16275721	+	Frame_Shift_Ins	INS	-	-	A													aaatgtagtcgtcgttgttaINSaaatctgcagagcaggatgg							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:16275719_16275720T>TA	uc002nds.3	-	4	351_352	c.351_352A>TA	c.(349-354)tttaacfs	p.F117fs	CIB3_uc010eae.3_Frame_Shift_Ins_p.F56fs|CIB3_uc010eaf.3_Non-coding_Transcript|CIB3_uc010eag.3_Frame_Shift_Ins_p.F68fs	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA.	117	EF-hand 2.						calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						TCGTCGTTGTTAAAATCTGCAG	0.579													A	16275721	-	A	16275720	7	5	88	1	0	1	1	0	0	0	0	0	3422	359	13	0	220	0	CIB3	19	16275720	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	2005322	16275720	42853263	870	58292											
MYO9B	4650	broad.mit.edu	37	chr19	17213299	17213299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcatccactgcctcaccGccctcagccagaagggctac	7	19	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:17213299G>A	uc010eak.2	+	2	924	c.772G>A	c.(772-774)GCC>ACC	p.A258T	MYO9B_uc002nfi.2_Missense_Mutation_p.A258T|MYO9B_uc002nfj.1_Missense_Mutation_p.A258T	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	258	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						CTGCCTCACCGCCCTCAGCCA	0.652													A	17213299	G	A	17213299	3	1	88	1	0	0	0	0	1	0	0	0	10085	1087	38	1	774	1	MYO9B	19	17213299	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	937579	17213299	41915684	871	58293											
UNC13A	23025	broad.mit.edu	37	chr19	17783305	17783305	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatccagacggttaatctcgCtgcagaaaaaggagaggggg	14	7	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:17783305C>A	uc002nhd.2	-	5	417	c.417_splice	c.e5-1	p.F139_splice		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A						exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						GTTAATCTCGCTGCAGAAAAA	0.398													A	17783305	C	A	17783305	5	1	88	1	0	0	0	0	0	0	1	0	16981	811	28	5	5115	5	UNC13A	19	17783305	Splice_Site	SNP	C	TCGA-BR-8382-01A-11D-2394-08	570006	17783305	41345678	872	58294											
CCDC124	115098	broad.mit.edu	37	chr19	18047384	18047384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcatgaggaaggagcagcGcaaggtgcgtgcactccgag	16	10	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:18047384G>A	uc010xpz.1	+	2	200	c.155G>A	c.(154-156)CGC>CAC	p.R52H	CCDC124_uc002nhs.2_Missense_Mutation_p.R52H	NM_001136203	NP_001129675	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	52	Potential.						DNA binding				0						AAGGAGCAGCGCAAGGTGCGT	0.612													A	18047384	G	A	18047384	3	1	88	1	0	0	0	0	1	0	0	0	2760	1087	38	1	157	1	CCDC124	19	18047384	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	264079	18047384	41081599	873	58295											
KIAA1683	80726	broad.mit.edu	37	chr19	18378125	18378125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgtgggacgcggcgggaCgccgtcttgccttcggcagg	19	12	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:18378125C>T	uc002nin.2	-	3	441	c.225G>A	c.(223-225)GCG>GCA	p.A75A	KIAA1683_uc010ebn.2_Silent_p.A75A|KIAA1683_uc010xqe.1_Silent_p.A29A	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	75						mitochondrion				ovary(2)	2						CGCGGCGGGACGCCGTCTTGC	0.637													T	18378125	C	T	18378125	2	4	88	1	0	0	0	0	0	0	0	1	8251	523	19	1		1	KIAA1683	19	18378125	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	330741	18378125	40750858	874	58296											
KLHL26	55295	broad.mit.edu	37	chr19	18778576	18778576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatcgacttcgcctacagCgccgaggtgacactggacct	10	14	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:18778576C>T	uc002njz.1	+	3	396	c.369C>T	c.(367-369)AGC>AGT	p.S123S		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	123	BTB.									ovary(1)	1						TCGCCTACAGCGCCGAGGTGA	0.662													T	18778576	C	T	18778576	2	4	88	1	0	0	0	0	0	0	0	1	8381	767	27	1		1	KLHL26	19	18778576	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	400451	18778576	40350407	875	58297											
KLHL26	55295	broad.mit.edu	37	chr19	18778628	18778628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacgtgctgggcgcggccGtgttcttgcagatgctgccc	16	12	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:18778628G>A	uc002njz.1	+	3	448	c.421G>A	c.(421-423)GTG>ATG	p.V141M		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	141										ovary(1)	1						GGGCGCGGCCGTGTTCTTGCA	0.667													A	18778628	G	A	18778628	3	1	88	1	0	0	0	0	1	0	0	0	8381	1145	40	1	431	1	KLHL26	19	18778628	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	52	18778628	40350355	876	58298											
HAPLN4	404037	broad.mit.edu	37	chr19	19371714	19371714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcttgcagcgtgacgttgCggaggaccagggaggcatcc	16	10	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:19371714C>T	uc002nmb.2	-	3	447	c.392G>A	c.(391-393)CGC>CAC	p.R131H	HAPLN4_uc002nmc.2_Missense_Mutation_p.R131H	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	131	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)			CGTGACGTTGCGGAGGACCAG	0.642													T	19371714	C	T	19371714	3	4	88	1	0	0	0	0	1	0	0	0	6957	768	27	1	828	1	HAPLN4	19	19371714	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	593086	19371714	39757269	877	58299											
ZNF43	7594	broad.mit.edu	37	chr19	22002026	22002026	+	Splice_Site	DEL	A	A	-													cataaatgtcaatggtccctAaaaaaaacaacacatacaca							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383													-	22002026	A	-	22002026	8	5	88	1	0	1	0	1	0	0	1	0	17900	377	13	0		0	ZNF43	19	22002026	Splice_Site	DEL	A	TCGA-BR-8382-01A-11D-2394-08	2630312	22002026	37126957	878	58300											
ZNF99	7652	broad.mit.edu	37	chr19	22941044	22941044	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttcccagtatgaattatcTtatgtttcataagggttgag	8	6	3	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:22941044T>A	uc010xrh.1	-	5	1394	c.1394A>T	c.(1393-1395)AAG>ATG	p.K465M		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATGAATTATCTTATGTTTCAT	0.343													A	22941044	T	A	22941044	3	1	88	1	0	0	0	0	1	0	0	0	18201	1609	56	5	1730	5	ZNF99	19	22941044	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	939018	22941044	36187939	879	58301											
ZNF536	9745	broad.mit.edu	37	chr19	30935211	30935211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcaggctaaccacagcGttcccgacgtggcccacccg	10	19	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:30935211G>A	uc002nsu.1	+	2	880	c.742G>A	c.(742-744)GTT>ATT	p.V248I	ZNF536_uc010edd.1_Missense_Mutation_p.V248I	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					TAACCACAGCGTTCCCGACGT	0.756													A	30935211	G	A	30935211	3	1	88	1	0	0	0	0	1	0	0	0	17971	1145	40	1	744	1	ZNF536	19	30935211	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	7994167	30935211	28193772	880	58302											
CHST8	64377	broad.mit.edu	37	chr19	34263898	34263898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggccctgcaaaggcagcGcacctacgacttctactaca	8	16	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:34263898G>A	uc002nus.3	+	5	1710	c.1205G>A	c.(1204-1206)CGC>CAC	p.R402H	CHST8_uc002nut.3_Missense_Mutation_p.R402H|CHST8_uc002nuu.2_Missense_Mutation_p.R402H	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	402	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					CAAAGGCAGCGCACCTACGAC	0.622													A	34263898	G	A	34263898	3	1	88	1	0	0	0	0	1	0	0	0	3410	1087	38	1	1215	1	CHST8	19	34263898	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	3328687	34263898	24865085	881	58303											
PDCD2L	84306	broad.mit.edu	37	chr19	34904755	34904755	+	Splice_Site	DEL	A	A	-													tcaggagcagattttgaggtAaaaaaaggcacagttccttt							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:34904754_34904754TA>T	uc002nvj.3	+	5	830	c.797_splice	c.e5+2	p.R266_splice		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	Homo sapiens programmed cell death 2-like (PDCD2L), mRNA.	266						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GATTTTGAGGTAAAAAAAGGC	0.328													-	34904755	A	-	34904755	8	5	88	1	0	1	0	1	0	0	1	0	11620	377	13	0		0	PDCD2L	19	34904755	Splice_Site	DEL	A	TCGA-BR-8382-01A-11D-2394-08	640857	34904755	24224228	882	58304											
MAG	4099	broad.mit.edu	37	chr19	35800998	35800998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggcccaggccccgcccCgcgtcatctgcaccgcgagg	14	19	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:35800998C>T	uc002nyy.1	+	8	1602	c.1453C>T	c.(1453-1455)CGC>TGC	p.R485C	MAG_uc002nyx.1_Missense_Mutation_p.R485C|MAG_uc010eds.1_Missense_Mutation_p.R460C|MAG_uc002nyz.1_Missense_Mutation_p.R485C	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	485	Ig-like C2-type 4.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGCCCCGCCCCGCGTCATCTG	0.697													T	35800998	C	T	35800998	3	4	88	1	0	0	0	0	1	0	0	0	9162	652	23	1	1475	1	MAG	19	35800998	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	896243	35800998	23327985	883	58305											
RBM42	79171	broad.mit.edu	37	chr19	36128361	36128361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggaagtatgtgggctcgCgccccatcaagcttcgcaag	13	12	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:36128361C>T	uc002oan.2	+	10	1424	c.1348C>T	c.(1348-1350)CGC>TGC	p.R450C	RBM42_uc010eef.2_Missense_Mutation_p.R396C|RBM42_uc002oao.2_Missense_Mutation_p.R428C|RBM42_uc002oap.2_Missense_Mutation_p.R420C|RBM42_uc002oaq.2_Missense_Mutation_p.R421C|RBM42_uc010eeg.2_Missense_Mutation_p.R356C	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	450	Necessary for interaction with HNRNPK (By similarity).|RRM.					cytoplasm|nucleus	nucleotide binding|RNA binding				0	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGTGGGCTCGCGCCCCATCAA	0.617													T	36128361	C	T	36128361	3	4	88	1	0	0	0	0	1	0	0	0	13136	768	27	1	1386	1	RBM42	19	36128361	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	327363	36128361	23000622	884	58306											
MLL2	8085	broad.mit.edu	37	chr19	36210764	36210765	+	Frame_Shift_Ins	INS	-	-	C													ctagcagatgtggctcctacINSccccccaaagacccctgccc					rs60207923	by1000genomes	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:36210763_36210764A>AC	uc021usv.1	+	2	514_515	c.514_515A>AC	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAAG	0.634			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			C	36210765	-	C	36210764	7	5	88	1	0	1	1	0	0	0	0	0	9621	507	18	0		0	MLL2	19	36210764	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	82403	36210764	22918219	885	58307											
TMEM149	79713	broad.mit.edu	37	chr19	36232025	36232025	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtactgggaggcttccggCggtggcgccagggccagaag	18	11	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:36232025C>T	uc002obc.2	-	2	158	c.57G>A	c.(55-57)CCG>CCA	p.P19P	TMEM149_uc002obb.2_Silent_p.P19P|TMEM149_uc002obd.3_Silent_p.P19P|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Silent_p.P99P	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	transmembrane protein 149 precursor	19						integral to membrane|plasma membrane	protein binding|receptor activity				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGCTTCCGGCGGTGGCGCCA	0.672													T	36232025	C	T	36232025	2	4	88	1	0	0	0	0	0	0	0	1	16059	755	27	1		1	TMEM149	19	36232025	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	21261	36232025	22896958	886	58308											
ARHGAP33	115703	broad.mit.edu	37	chr19	36279053	36279053	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgcccacccccgaagcCgttcagatcccggtccccca	7	22	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:36279053C>A	uc002obs.1	+	21	3188	c.3103C>A	c.(3103-3105)CGT>AGT	p.R1035S	ARHGAP33_uc002obt.1_Missense_Mutation_p.R1032S|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Missense_Mutation_p.R784S	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	1196					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						CCCCCGAAGCCGTTCAGATCC	0.687													A	36279053	C	A	36279053	3	1	88	1	0	0	0	0	1	0	0	0	882	652	23	5	3668	5	ARHGAP33	19	36279053	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	47028	36279053	22849930	887	58309											
C19orf46	163183	broad.mit.edu	37	chr19	36499174	36499174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagggtgttgaccatctcGgggggtgagcggcaggctca	18	8	2	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:36499174G>A	uc002ocq.1	-	2	313	c.224C>T	c.(223-225)CCG>CTG	p.P75L	C19orf46_uc002ocr.1_Missense_Mutation_p.P75L|C19orf46_uc002ocs.1_Missense_Mutation_p.P75L|C19orf46_uc010een.1_Intron	NM_001039876	NP_001034965	Q8N205	SYNE4_HUMAN	hypothetical protein LOC163183	75	Cytoplasmic (Potential).				establishment of epithelial cell apical/basal polarity	integral to nuclear outer membrane	actin binding			ovary(1)	1	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGACCATCTCGGGGGGTGAGC	0.657													A	36499174	G	A	36499174	3	1	88	1	0	0	0	0	1	0	0	0	1929	1116	39	1	1018	1	C19orf46	19	36499174	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	220121	36499174	22629809	888	58310											
CLIP3	25999	broad.mit.edu	37	chr19	36510166	36510166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccacgcccacccactggcCgctggcaaactccgtggtcc	9	20	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:36510166C>T	uc010eeq.1	-	7	1243	c.961G>A	c.(961-963)GGC>AGC	p.G321S	uc002ocy.2_Missense_Mutation_p.R27C|CLIP3_uc002ocz.1_Missense_Mutation_p.G321S	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	321	CAP-Gly 1.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACCCACTGGCCGCTGGCAAAC	0.627													T	36510166	C	T	36510166	3	4	88	1	0	0	0	0	1	0	0	0	3534	652	23	1	710	1	CLIP3	19	36510166	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	10992	36510166	22618817	889	58311											
GGN	199720	broad.mit.edu	37	chr19	38877092	38877092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggccgccgcctccgccGccccccagcgaagctttggc	12	19	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:38877092G>A	uc002oij.1	-	3	945	c.810C>T	c.(808-810)GGC>GGT	p.G270G	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.G187G	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	270	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGCCTCCGCCGCCCCCCAGCG	0.657													A	38877092	G	A	38877092	2	1	88	1	0	0	0	0	0	0	0	1	6358	1074	38	1		1	GGN	19	38877092	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2366926	38877092	20251891	890	58312											
GGN	199720	broad.mit.edu	37	chr19	38877558	38877558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggggaactggagtgcccGcgggcttttgccatttagac	14	11	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:38877558G>A	uc002oij.1	-	3	479	c.344C>T	c.(343-345)GCG>GTG	p.A115V	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.A32V	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	115	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGAGTGCCCGCGGGCTTTTG	0.756													A	38877558	G	A	38877558	3	1	88	1	0	0	0	0	1	0	0	0	6358	1087	38	1	1622	1	GGN	19	38877558	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	466	38877558	20251425	891	58313											
RYR1	6261	broad.mit.edu	37	chr19	38949887	38949887	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgccgtccatctccttcCgcatcaacggctgccccgtg	10	18	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:38949887C>A	uc002oit.2	+	19	2399	c.2269C>A	c.(2269-2271)CGC>AGC	p.R757S	RYR1_uc002oiu.2_Missense_Mutation_p.R757S	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	757	Cytoplasmic.|B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CATCTCCTTCCGCATCAACGG	0.612													A	38949887	C	A	38949887	3	1	88	1	0	0	0	0	1	0	0	0	13768	652	23	5	2343	5	RYR1	19	38949887	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	72329	38949887	20179096	892	58314											
RYR1	6261	broad.mit.edu	37	chr19	38990283	38990283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggtggccaggcgagagcGtggaggagaacgccaatgtg	20	8	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:38990283G>A	uc002oit.2	+	44	7166	c.7036G>A	c.(7036-7038)GTG>ATG	p.V2346M	RYR1_uc002oiu.2_Missense_Mutation_p.V2346M|RYR1_uc002oiv.1_Translation_Start_Site	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2346	Cytoplasmic.|6 X approximate repeats.		V -> M (in MHS1).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGCGAGAGCGTGGAGGAGAA	0.667													A	38990283	G	A	38990283	3	1	88	1	0	0	0	0	1	0	0	0	13768	1145	40	1	7210	1	RYR1	19	38990283	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	40396	38990283	20138700	893	58315											
IL28A	282616	broad.mit.edu	37	chr19	39759369	39759369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatggccgcagtgctgacCgtgactggagcagttcctgt	14	11	0	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:39759369C>T	uc002oku.1	+	2	115	c.63C>T	c.(61-63)ACC>ACT	p.T21T		NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	interleukin 28A precursor	21					response to virus	extracellular space	cytokine activity			ovary(1)|skin(1)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CAGTGCTGACCGTGACTGGAG	0.632													T	39759369	C	T	39759369	2	4	88	1	0	0	0	0	0	0	0	1	7682	639	23	1		1	IL28A	19	39759369	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	769086	39759369	19369614	894	58316											
ZNF780A	284323	broad.mit.edu	37	chr19	40581804	40581804	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtatgaatactctgatgcTgaataagatttgcactacga	8	7	1	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:40581804T>C	uc002omy.2	-	6	770	c.545A>G	c.(544-546)CAG>CGG	p.Q182R	ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.Q182R|ZNF780A_uc010xvh.1_Missense_Mutation_p.Q183R	NM_001010880	NP_001010880	O75290	Z780A_HUMAN	zinc finger protein 780A isoform b	182	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACTCTGATGCTGAATAAGATT	0.373													C	40581804	T	C	40581804	3	2	88	1	0	0	0	0	1	0	0	0	18149	1580	55	3	1511	3	ZNF780A	19	40581804	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	822435	40581804	18547179	895	58317											
AKT2	208	broad.mit.edu	37	chr19	40741932	40741932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggttgtagaagggcaggCggccgcacatcatctcgtac	13	12	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:40741932C>T	uc002onf.2	-	11	1302	c.1040G>A	c.(1039-1041)CGC>CAC	p.R347H	AKT2_uc010egs.2_Missense_Mutation_p.R304H|AKT2_uc010egt.2_Missense_Mutation_p.R285H|AKT2_uc010xvj.1_Missense_Mutation_p.R285H|AKT2_uc010egu.1_Missense_Mutation_p.R285H|AKT2_uc002one.2_Missense_Mutation_p.R243H	NM_001626	NP_001617	P31751	AKT2_HUMAN	AKT2 kinase	347	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2			Lung(22;0.000499)			GAAGGGCAGGCGGCCGCACAT	0.622			A		ovarian|pancreatic 								T	40741932	C	T	40741932	3	4	88	1	0	0	0	0	1	0	0	0	480	768	27	1	421	1	AKT2	19	40741932	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	160128	40741932	18387051	896	58318											
SPTBN4	57731	broad.mit.edu	37	chr19	41071344	41071344	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagggacgtgtcatcagtGgaggtgctcatgaactacca	13	9	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:41071344G>T	uc002ony.2	+	28	6017	c.5931G>T	c.(5929-5931)GTG>GTT	p.V1977V	SPTBN4_uc002onz.2_Silent_p.V1977V|SPTBN4_uc010egx.2_Silent_p.V720V	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1977	Spectrin 17.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGTCATCAGTGGAGGTGCTCA	0.632													T	41071344	G	T	41071344	2	4	88	1	0	0	0	0	0	0	0	1	15120	1335	47	5		5	SPTBN4	19	41071344	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	329412	41071344	18057639	897	58319											
SNRPA	6626	broad.mit.edu	37	chr19	41265514	41265514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgtccaggggcctgtccCggtaagccaggtcccggaga	16	13	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:41265514C>T	uc002ooz.2	+	3	960	c.425C>T	c.(424-426)CCG>CTG	p.P142L	SNRPA_uc002opa.2_Missense_Mutation_p.P92L	NM_004596	NP_004587	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	142	Pro-rich.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			skin(2)|ovary(1)|central_nervous_system(1)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGGCCTGTCCCGGTAAGCCAG	0.672													T	41265514	C	T	41265514	3	4	88	1	0	0	0	0	1	0	0	0	14859	666	23	1	435	1	SNRPA	19	41265514	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	194170	41265514	17863469	898	58320											
AXL	558	broad.mit.edu	37	chr19	41726615	41726615	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccggggactcacgggcaccCttcggtgtcagctccaggtt	13	15	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:41726615C>A	uc010ehj.2	+	2	350	c.160C>A	c.(160-162)CTT>ATT	p.L54I	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.L54I|AXL_uc010ehk.2_Missense_Mutation_p.L54I	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	54	Extracellular (Potential).|Interaction with GAS6.|Ig-like C2-type 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						CACGGGCACCCTTCGGTGTCA	0.632													A	41726615	C	A	41726615	3	1	88	1	0	0	0	0	1	0	0	0	1238	681	24	5	166	5	AXL	19	41726615	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	461101	41726615	17402368	899	58321											
ZNF574	64763	broad.mit.edu	37	chr19	42584303	42584303	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgtgcgtaaccacctgcgCacacacacaggggagcggcc	12	16	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:42584303C>T	uc002osm.3	+	2	1714	c.1545C>T	c.(1543-1545)CGC>CGT	p.R515R	ZNF574_uc002osk.3_Silent_p.R605R	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	515	C2H2-type 10; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				ACCACCTGCGCACACACACAG	0.607													T	42584303	C	T	42584303	2	4	88	1	0	0	0	0	0	0	0	1	18003	697	25	2		2	ZNF574	19	42584303	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	857688	42584303	16544680	900	58322											
PRR19	284338	broad.mit.edu	37	chr19	42814313	42814313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgaccttgccctggtgcttCggggctgccagccacccttg	12	16	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:42814313C>T	uc002oti.2	+	2	955	c.577C>T	c.(577-579)CGG>TGG	p.R193W	PRR19_uc002oth.1_Missense_Mutation_p.R193W|PRR19_uc002otj.2_Missense_Mutation_p.R193W	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	proline rich 19	193											0		Prostate(69;0.00682)				CCTGGTGCTTCGGGGCTGCCA	0.612													T	42814313	C	T	42814313	3	4	88	1	0	0	0	0	1	0	0	0	12591	875	31	1	579	1	PRR19	19	42814313	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	230010	42814313	16314670	901	58323											
IRGQ	126298	broad.mit.edu	37	chr19	44099118	44099118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgatcacgggcctgggCggcagtctgtgaatccccag	14	12	3	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:44099118C>T	uc002oww.2	-	1	491	c.373G>A	c.(373-375)GCC>ACC	p.A125T	IRGQ_uc010eiv.2_Missense_Mutation_p.A125T|ZNF576_uc002owy.2_5'Flank|ZNF576_uc002owz.2_5'Flank|SRRM5_uc002oxb.2_5'Flank	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	125							protein binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0199)				CGGGCCTGGGCGGCAGTCTGT	0.682													T	44099118	C	T	44099118	3	4	88	1	0	0	0	0	1	0	0	0	7839	768	27	1	1506	1	IRGQ	19	44099118	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1284805	44099118	15029865	902	58324											
ZNF285	26974	broad.mit.edu	37	chr19	44891368	44891368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaccctttcccacattcatCgcatttgtagggcatctccc	5	15	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:44891368C>T	uc002ozd.3	-	4	1126	c.1039G>A	c.(1039-1041)GAT>AAT	p.D347N	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.D354N	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	347	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4						CCACATTCATCGCATTTGTAG	0.473													T	44891368	C	T	44891368	3	4	88	1	0	0	0	0	1	0	0	0	17819	884	31	1	737	1	ZNF285	19	44891368	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	792250	44891368	14237615	903	58325											
CLPTM1	1209	broad.mit.edu	37	chr19	45493811	45493811	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcattggggtcctcatcgacCtctggaagatcaccaaggtc	10	12	4	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:45493811C>A	uc002pai.2	+	10	1306	c.1291C>A	c.(1291-1293)CTC>ATC	p.L431I	CLPTM1_uc010xxf.1_Missense_Mutation_p.L329I|CLPTM1_uc010xxg.1_Missense_Mutation_p.L417I	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	431	Helical; (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CCTCATCGACCTCTGGAAGAT	0.602													A	45493811	C	A	45493811	3	1	88	1	0	0	0	0	1	0	0	0	3554	681	24	5	1329	5	CLPTM1	19	45493811	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	602443	45493811	13635172	904	58326											
NOVA2	4858	broad.mit.edu	37	chr19	46443245	46443245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgacccgccggttccgcGtgcctggcaggaactcgccc	14	16	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:46443245G>A	uc002pdv.2	-	4	1403	c.1355C>T	c.(1354-1356)ACG>ATG	p.T452M		NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	452	KH 3.					nucleus	RNA binding				0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		CCGGTTCCGCGTGCCTGGCAG	0.667													A	46443245	G	A	46443245	3	1	88	1	0	0	0	0	1	0	0	0	10555	1145	40	1	127	1	NOVA2	19	46443245	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	949434	46443245	12685738	905	58327											
KCNJ14	3770	broad.mit.edu	37	chr19	48967762	48967762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccagtatgaggtcgactatCgccacttccatcgcacttat	7	14	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:48967762C>T	uc002pje.1	+	3	1444	c.1039C>T	c.(1039-1041)CGC>TGC	p.R347C	KCNJ14_uc002pjf.1_Missense_Mutation_p.R347C	NM_013348	NP_037480	Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel J14	347	Cytoplasmic (By similarity).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			skin(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		GGTCGACTATCGCCACTTCCA	0.582													T	48967762	C	T	48967762	3	4	88	1	0	0	0	0	1	0	0	0	8048	884	31	1	1045	1	KCNJ14	19	48967762	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2524517	48967762	10161221	906	58328											
PIH1D1	55011	broad.mit.edu	37	chr19	49951145	49951145	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcgatggtgatcacgagCtcccgcaagaaatcgctgtt	12	11	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:49951145C>T	uc002pns.2	-	5	704	c.420G>A	c.(418-420)GAG>GAA	p.E140E	PIH1D1_uc010yap.1_Missense_Mutation_p.A171T	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	NOP17	140					box C/D snoRNP assembly	pre-snoRNP complex					0		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		TGATCACGAGCTCCCGCAAGA	0.627													T	49951145	C	T	49951145	2	4	88	1	0	0	0	0	0	0	0	1	11906	796	28	2		2	PIH1D1	19	49951145	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	983383	49951145	9177838	907	58329											
POLD1	5424	broad.mit.edu	37	chr19	50917112	50917112	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcaggtcacttcccgtcGcccatccggctggagtttga	12	13	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:50917112G>A	uc002psb.3	+	19	2420	c.2364G>A	c.(2362-2364)TCG>TCA	p.S788S	POLD1_uc002psc.3_Silent_p.S788S|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Silent_p.S814S	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	788					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACTTCCCGTCGCCCATCCGGC	0.637								DNA_polymerases_(catalytic_subunits)					A	50917112	G	A	50917112	2	1	88	1	0	0	0	0	0	0	0	1	12190	1074	38	1		1	POLD1	19	50917112	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	965967	50917112	8211871	908	58330											
SIGLEC8	27181	broad.mit.edu	37	chr19	51955752	51955752	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagtggcctcctgtccctGcgggtcctgaggcttcactt	12	14	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:51955752G>A	uc002pwt.2	-	7	1448	c.1381C>T	c.(1381-1383)CAG>TAG	p.Q461*	SIGLEC8_uc010yda.1_Nonsense_Mutation_p.Q352*|SIGLEC8_uc002pwu.2_Intron|SIGLEC8_uc010eox.2_Nonsense_Mutation_p.Q368*	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	461	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCCTGTCCCTGCGGGTCCTGA	0.562													A	51955752	G	A	51955752	4	1	88	1	0	0	0	0	0	1	0	0	14314	1328	46	2	122	2	SIGLEC8	19	51955752	Nonsense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1038640	51955752	7173231	909	58331											
ZNF534	147658	broad.mit.edu	37	chr19	52941489	52941489	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagaattcacaccttgcacAacatcagaaaattcatactg	4	11	4	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:52941489A>G	uc002pzk.2	+	4	876	c.815A>G	c.(814-816)CAA>CGA	p.Q272R	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.Q259R	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	zinc finger protein 534 isoform 2	272	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CACCTTGCACAACATCAGAAA	0.368													G	52941489	A	G	52941489	3	3	88	1	0	0	0	0	1	0	0	0	17970	130	5	3	829	3	ZNF534	19	52941489	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	985737	52941489	6187494	910	58332											
ZNF765	91661	broad.mit.edu	37	chr19	53911570	53911570	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtggcaaggtctttaattcGaagcgatacgttgcacgcca	11	9	1	0	rs117283634	by1000genomes	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:53911570G>A	uc010ydx.1	+	6	1089	c.762G>A	c.(760-762)TCG>TCA	p.S254S	ZNF765_uc002qbm.2_Silent_p.S254S|ZNF765_uc002qbn.2_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	254	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00379)		TCTTTAATTCGAAGCGATACG	0.393													A	53911570	G	A	53911570	2	1	88	1	0	0	0	0	0	0	0	1	18136	1045	37	1		1	ZNF765	19	53911570	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	970081	53911570	5217413	911	58333											
CACNG7	59284	broad.mit.edu	37	chr19	54444809	54444809	+	Frame_Shift_Del	DEL	T	T	-													cccagcagctctgagcagtaTtttcattatcgctacgggtg							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:54444808_54444808AT>A	uc002qcr.2	+	3	604	c.509_509AT>A	c.(508-510)tatfs	p.Y170fs	CACNG7_uc010era.2_Frame_Shift_Del_p.Y170fs	NM_031896	NP_114102	P62955	CCG7_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.	170					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TCTGAGCAGTATTTTCATTAT	0.542													-	54444809	T	-	54444809	7	5	88	1	0	1	0	1	0	0	0	0	2562	1500	52	0	524	0	CACNG7	19	54444809	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	533239	54444809	4684174	912	58334											
CACNG8	59283	broad.mit.edu	37	chr19	54483177	54483177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccatcctgctgctgctcGggggtgtgtgcgtggcggcc	18	13	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:54483177G>A	uc002qcs.1	+	3	527	c.421G>A	c.(421-423)GGG>AGG	p.G141R	MIR935_hsa-mir-935|MI0005757_5'Flank	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	voltage-dependent calcium channel gamma-8	142	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GCTGCTGCTCGGGGGTGTGTG	0.637													A	54483177	G	A	54483177	3	1	88	1	0	0	0	0	1	0	0	0	2563	1116	39	1	434	1	CACNG8	19	54483177	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	38368	54483177	4645806	913	58335											
OSCAR	126014	broad.mit.edu	37	chr19	54600440	54600440	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatggcttagggtggtatgAagctggggggactgaataaa	16	5	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:54600440A>G	uc002qdd.2	-	4	274	c.157T>C	c.(157-159)TCA>CCA	p.S53P	OSCAR_uc002qcy.2_Missense_Mutation_p.S32P|OSCAR_uc002qcz.2_Missense_Mutation_p.S28P|OSCAR_uc002qda.2_Missense_Mutation_p.S32P|OSCAR_uc002qdb.2_Missense_Mutation_p.S17P|OSCAR_uc010erc.2_5'UTR|OSCAR_uc002qdc.2_Missense_Mutation_p.S42P	NM_206818	NP_996554	Q8IYS5	OSCAR_HUMAN	osteoclast-associated receptor isoform 1	28	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity				0	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GGGTGGTATGAAGCTGGGGGG	0.592													G	54600440	A	G	54600440	3	3	88	1	0	0	0	0	1	0	0	0	11285	246	9	3	915	3	OSCAR	19	54600440	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	117263	54600440	4528543	914	58336											
LILRB5	10990	broad.mit.edu	37	chr19	54760025	54760025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacgggacccacagggaacAgggcctgggatggccctttg	15	12	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:54760025A>G	uc002qex.2	-	4	647	c.536T>C	c.(535-537)CTG>CCG	p.L179P	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.L170P|LILRB5_uc002qey.2_Missense_Mutation_p.L179P|LILRB5_uc002qez.2_Intron|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Intron	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	179	Extracellular (Potential).|Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACAGGGAACAGGGCCTGGGA	0.557													G	54760025	A	G	54760025	3	3	88	1	0	0	0	0	1	0	0	0	8794	188	7	3	1279	3	LILRB5	19	54760025	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	159585	54760025	4368958	915	58337											
BRSK1	84446	broad.mit.edu	37	chr19	55814186	55814186	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagagagcatggcatcactgGgctgcttcagggaccgcgag	15	10	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:55814186G>T	uc002qkg.2	+	10	1256	c.979G>T	c.(979-981)GGC>TGC	p.G327C	BRSK1_uc002qkf.2_Missense_Mutation_p.G343C|BRSK1_uc002qkh.2_Missense_Mutation_p.G22C	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	327	UBA.			G->A: Abolishes activation of kinase activity.	establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.G327D(1)		ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GGCATCACTGGGCTGCTTCAG	0.682													T	55814186	G	T	55814186	3	4	88	1	0	0	0	0	1	0	0	0	1523	1232	43	5	1017	5	BRSK1	19	55814186	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1054161	55814186	3314797	916	58338											
ZNF606	80095	broad.mit.edu	37	chr19	58491210	58491210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctccagtttgtattcttgCagggtaaataggttgaatgg	11	5	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:58491210C>T	uc002qqw.2	-	7	1456	c.838G>A	c.(838-840)GCA>ACA	p.A280T	ZNF606_uc010yhp.1_Missense_Mutation_p.A190T	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TGTATTCTTGCAGGGTAAATA	0.328													T	58491210	C	T	58491210	3	4	88	1	0	0	0	0	1	0	0	0	18029	710	25	2	1544	2	ZNF606	19	58491210	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2677024	58491210	637773	917	58339											
ZBTB45	84878	broad.mit.edu	37	chr19	59027859	59027859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggctcagcacctggggtGcgagcaggggtgcctgaggg	21	9	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:59027859G>A	uc002qtd.2	-	2	1474	c.1182C>T	c.(1180-1182)CGC>CGT	p.R394R	ZBTB45_uc002qte.2_Silent_p.R394R|ZBTB45_uc002qtf.2_Silent_p.R394R	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	394	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CACCTGGGGTGCGAGCAGGGG	0.647													A	59027859	G	A	59027859	2	1	88	1	0	0	0	0	0	0	0	1	17543	1306	46	2		2	ZBTB45	19	59027859	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	536649	59027859	101124	918	58340											
FASTKD5	60493	broad.mit.edu	37	chr20	3128001	3128001	+	Frame_Shift_Del	DEL	C	C	-													tggtgcttgacgtactggggCccccccagcatggtctccag							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:3128000_3128000GC>G	uc021vzx.1	-	0	1717	c.1717_1717GC>C	c.(1717-1719)cccfs	p.P573fs	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Frame_Shift_Del_p.P573fs	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	573					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACGTACTGGGGCCCCCCCAGC	0.438													-	3128001	C	-	3128001	7	5	88	1	0	1	0	1	0	0	0	0	5688	726	26	0	582	0	FASTKD5	20	3128001	Frame_Shift_Del	DEL	C	TCGA-BR-8382-01A-11D-2394-08		3128001	59897519	919	58341											
ProSAPiP1	9762	broad.mit.edu	37	chr20	3145154	3145154	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagggggtccaggccttcttCtcctcgccatgctggggagt	15	12	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:3145154C>T	uc002wia.1	-	3	3366	c.1968G>A	c.(1966-1968)GAG>GAA	p.E656E	ProSAPiP1_uc002wib.1_Silent_p.E610E	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	656						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						AGGCCTTCTTCTCCTCGCCAT	0.642													T	3145154	C	T	3145154	2	4	88	1	0	0	0	0	0	0	0	1	12870	912	32	4		4	ProSAPiP1	20	3145154	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	17153	3145154	59880366	920	58342											
ITPA	3704	broad.mit.edu	37	chr20	3204042	3204042	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcctaaggcggagaagaaCgctgtctcccatcgcttccg	11	13	1	2	rs145578636	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:3204042C>T	uc002wid.2	+	8	661	c.519C>T	c.(517-519)AAC>AAT	p.N173N	ITPA_uc002wie.2_Silent_p.N156N|ITPA_uc002wif.2_RNA	NM_033453	NP_258412	Q9BY32	ITPA_HUMAN	inosine triphosphatase isoform a	173					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			ovary(1)	1						CGGAGAAGAACGCTGTCTCCC	0.622													T	3204042	C	T	3204042	2	4	88	1	0	0	0	0	0	0	0	1	7915	535	19	1		1	ITPA	20	3204042	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	58888	3204042	59821478	921	58343											
KIF16B	55614	broad.mit.edu	37	chr20	16359990	16359990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaatcttgaggcacttccGtgacatctgtgacactctca	8	12	3	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:16359990G>A	uc002wpg.1	-	19	2815	c.2657C>T	c.(2656-2658)ACG>ATG	p.T886M	KIF16B_uc002wpe.1_Missense_Mutation_p.T268M|KIF16B_uc002wpf.1_Missense_Mutation_p.T268M|KIF16B_uc010gch.1_Missense_Mutation_p.T886M|KIF16B_uc010gci.1_Missense_Mutation_p.T886M|KIF16B_uc010gcj.1_Missense_Mutation_p.T897M	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	886	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						AGGCACTTCCGTGACATCTGT	0.418													A	16359990	G	A	16359990	3	1	88	1	0	0	0	0	1	0	0	0	8278	1145	40	1	1328	1	KIF16B	20	16359990	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	13155948	16359990	46665530	922	58344											
NKX2-2	4821	broad.mit.edu	37	chr20	21492693	21492693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggcagaaaagggaatgccCgcctggaaggtggcggctgc	17	9	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:21492693C>T	uc002wsi.2	-	2	1047	c.690G>A	c.(688-690)GCG>GCA	p.A230A		NM_002509	NP_002500	O95096	NKX22_HUMAN	NK2 transcription factor related, locus 2	230					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			pancreas(1)|skin(1)	2						AGGGAATGCCCGCCTGGAAGG	0.672													T	21492693	C	T	21492693	2	4	88	1	0	0	0	0	0	0	0	1	10450	639	23	1		1	NKX2-2	20	21492693	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	5132703	21492693	41532827	923	58345											
SSTR4	6754	broad.mit.edu	37	chr20	23016705	23016705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggctcgcggcggccaggcCgtggcctgcaacctgcagtg	16	16	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:23016705C>T	uc002wsr.2	+	1	649	c.585C>T	c.(583-585)GCC>GCT	p.A195A		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	195	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCGGCCAGGCCGTGGCCTGCA	0.662													T	23016705	C	T	23016705	2	4	88	1	0	0	0	0	0	0	0	1	15199	639	23	1		1	SSTR4	20	23016705	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1524012	23016705	40008815	924	58346											
CD93	22918	broad.mit.edu	37	chr20	23065992	23065992	+	Frame_Shift_Del	DEL	C	C	-													gccgcagaggaaggagccatCccccccttcaaagcagtcct							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:23065991_23065991TC>T	uc002wsv.3	-	0	987	c.839_839GA>A	c.(838-840)gatfs	p.D280fs		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	280	EGF-like 1.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.D280N(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAAGGAGCCATCCCCCCCTTC	0.632													-	23065992	C	-	23065992	7	5	88	1	0	1	0	1	0	0	0	0	3047	855	30	0	1128	0	CD93	20	23065992	Frame_Shift_Del	DEL	C	TCGA-BR-8382-01A-11D-2394-08	49287	23065992	39959528	925	58347											
HCK	3055	broad.mit.edu	37	chr20	30672331	30672331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttggagctgggcagtttGgggaagtctggatgggtaag	18	4	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:30672331G>A	uc002wxh.2	+	8	991	c.820G>A	c.(820-822)GGG>AGG	p.G274R	HCK_uc010gdy.2_Missense_Mutation_p.G253R|HCK_uc002wxi.2_Missense_Mutation_p.G252R	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	274	Protein kinase.|ATP.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGGGCAGTTTGGGGAAGTCTG	0.587													A	30672331	G	A	30672331	3	1	88	1	0	0	0	0	1	0	0	0	6994	1348	47	4	856	4	HCK	20	30672331	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	7606339	30672331	32353189	926	58348											
ASXL1	171023	broad.mit.edu	37	chr20	30956840	30956840	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacttcccctctcgcatgcCtcaatgctatgctacattcc	6	16	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:30956840C>A	uc002wxs.2	+	3	592	c.166C>A	c.(166-168)CTC>ATC	p.L56I	ASXL1_uc002wxr.1_RNA|ASXL1_uc002wxt.2_RNA|ASXL1_uc010geb.2_5'UTR	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	56					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						TCTCGCATGCCTCAATGCTAT	0.443			F|N|Mis		MDS|CMML								A	30956840	C	A	30956840	3	1	88	1	0	0	0	0	1	0	0	0	1066	681	24	5	176	5	ASXL1	20	30956840	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	284509	30956840	32068680	927	58349											
ASXL1	171023	broad.mit.edu	37	chr20	31022318	31022318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccggatcatccccaccacGgagtcctcctgccggggttg	11	18	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:31022318G>A	uc002wxs.2	+	12	2229	c.1803G>A	c.(1801-1803)ACG>ACA	p.T601T	ASXL1_uc010geb.2_Silent_p.T492T	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	601					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.Q592fs*5(1)		haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						TCCCCACCACGGAGTCCTCCT	0.562			F|N|Mis		MDS|CMML								A	31022318	G	A	31022318	2	1	88	1	0	0	0	0	0	0	0	1	1066	1103	39	1		1	ASXL1	20	31022318	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	65478	31022318	32003202	928	58350											
BPIL3	128859	broad.mit.edu	37	chr20	31619462	31619462	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaggtggtgccatgctgcgGatcctgtgcctggcactctg	14	12	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:31619462G>A	uc010zuc.1	+	1	9	c.9G>A	c.(7-9)CGG>CGA	p.R3R	BPIL3_uc010zud.1_5'UTR	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	bactericidal/permeability-increasing	3						extracellular region	lipid binding			ovary(1)|pancreas(1)	2						CCATGCTGCGGATCCTGTGCC	0.642													A	31619462	G	A	31619462	2	1	88	1	0	0	0	0	0	0	0	1	1493	1161	41	4		4	BPIL3	20	31619462	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	597144	31619462	31406058	929	58351											
NCOA6	23054	broad.mit.edu	37	chr20	33330813	33330813	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcacggaggcaggtccttGcagactgaccatgacaggca	14	11	0	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:33330813G>A	uc002xav.2	-	12	5818	c.3247C>T	c.(3247-3249)CAA>TAA	p.Q1083*	NCOA6_uc002xaw.2_Nonsense_Mutation_p.Q1083*	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1083	NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						GCAGGTCCTTGCAGACTGACC	0.522													A	33330813	G	A	33330813	4	1	88	1	0	0	0	0	0	1	0	0	10233	1328	46	2	2964	2	NCOA6	20	33330813	Nonsense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1711351	33330813	29694707	930	58352											
NCOA6	23054	broad.mit.edu	37	chr20	33331122	33331122	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctgctgaagtggcctctGttcaactggttgagaaggat	12	8	3	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:33331122G>A	uc002xav.2	-	12	5509	c.2938C>T	c.(2938-2940)CAG>TAG	p.Q980*	NCOA6_uc002xaw.2_Nonsense_Mutation_p.Q980*	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	980	NCOA1-binding region.|Gln-rich.|CREBBP-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						AGTGGCCTCTGTTCAACTGGT	0.502													A	33331122	G	A	33331122	4	1	88	1	0	0	0	0	0	1	0	0	10233	1386	48	4	3273	4	NCOA6	20	33331122	Nonsense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	309	33331122	29694398	931	58353											
GGT7	2686	broad.mit.edu	37	chr20	33442648	33442648	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggataccaggctggtgagaTtgaagccctccaggatgttg	15	8	0	2	rs141899095	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:33442648T>C	uc002xay.2	-	9	1224	c.1181A>G	c.(1180-1182)AAT>AGT	p.N394S	GGT7_uc002xaz.1_Missense_Mutation_p.N411S	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	394	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(1)	1						GCTGGTGAGATTGAAGCCCTC	0.572													C	33442648	T	C	33442648	3	2	88	1	0	0	0	0	1	0	0	0	6364	1493	52	3	835	3	GGT7	20	33442648	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	111526	33442648	29582872	932	58354											
ERGIC3	51614	broad.mit.edu	37	chr20	34143892	34143892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccacaccaatgtcactgCgccccaaggtaccagcccgg	10	17	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:34143892C>T	uc002xct.2	+	9	875	c.806C>T	c.(805-807)GCG>GTG	p.A269V	ERGIC3_uc010zvg.1_Missense_Mutation_p.A269V|ERGIC3_uc002xcs.2_Missense_Mutation_p.A274V|ERGIC3_uc002xcu.2_Missense_Mutation_p.A284V|ERGIC3_uc002xcv.2_Missense_Mutation_p.A232V	NM_015966	NP_057050	Q9Y282	ERGI3_HUMAN	serologically defined breast cancer antigen 84	269	Lumenal (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			large_intestine(2)|ovary(1)	3	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			AATGTCACTGCGCCCCAAGGT	0.587													T	34143892	C	T	34143892	3	4	88	1	0	0	0	0	1	0	0	0	5225	768	27	1	859	1	ERGIC3	20	34143892	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	701244	34143892	28881628	933	58355											
RBM39	9584	broad.mit.edu	37	chr20	34313012	34313012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttggtcgaattcttgccGccagctgcatacagaagact	9	13	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:34313012G>A	uc002xeb.2	-	7	826	c.482C>T	c.(481-483)GCG>GTG	p.A161V	RBM39_uc002xdz.2_Missense_Mutation_p.A137V|RBM39_uc002xea.2_Missense_Mutation_p.A4V|RBM39_uc010gfn.2_Missense_Mutation_p.A4V|RBM39_uc010zvm.1_Missense_Mutation_p.A139V|RBM39_uc002xeg.2_Missense_Mutation_p.A139V|RBM39_uc002xec.2_Missense_Mutation_p.A161V|RBM39_uc002xed.2_5'UTR|RBM39_uc002xee.2_Missense_Mutation_p.A4V|RBM39_uc002xef.2_Missense_Mutation_p.A4V|RBM39_uc010zvn.1_Missense_Mutation_p.A4V	NM_184234	NP_909122	Q14498	RBM39_HUMAN	RNA binding motif protein 39 isoform a	161	RRM 1.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					AATTCTTGCCGCCAGCTGCAT	0.368													A	34313012	G	A	34313012	3	1	88	1	0	0	0	0	1	0	0	0	13133	1087	38	1	1154	1	RBM39	20	34313012	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	169120	34313012	28712508	934	58356											
TGIF2	60436	broad.mit.edu	37	chr20	35219539	35219539	+	Frame_Shift_Del	DEL	A	A	-													gcttcactcaggccagggggAaaagccagcagcccctttcc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:35219538_35219538GA>G	uc021wcv.1	+	2	632	c.418_418GA>G	c.(418-420)gaafs	p.E140fs	TGIF2_uc021wcu.1_Frame_Shift_Del_p.E140fs|TGIF2_uc002xfn.3_Frame_Shift_Del_p.E140fs|TGIF2_uc021wcw.1_Frame_Shift_Del_p.E140fs|TGIF2_uc002xfo.3_Intron	NM_001199514	NP_001186443	Q9GZN2	TGIF2_HUMAN	Homo sapiens TGFB-induced factor homeobox 2 (TGIF2), transcript variant 1, mRNA.	140	Repressive function.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E140K(2)		cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				AGGCCAGGGGGAAAAGCCAGC	0.647													-	35219539	A	-	35219539	7	5	88	1	0	1	0	1	0	0	0	0	15823	246	9	0	425	0	TGIF2	20	35219539	Frame_Shift_Del	DEL	A	TCGA-BR-8382-01A-11D-2394-08	906527	35219539	27805981	935	58357											
KCNB1	3745	broad.mit.edu	37	chr20	47991220	47991220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagatctggaccacgcggcGgacattctggaattgcagca	13	10	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:47991220G>A	uc002xur.1	-	2	1041	c.877C>T	c.(877-879)CGC>TGC	p.R293C	KCNB1_uc002xus.1_Missense_Mutation_p.R293C	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	293					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACCACGCGGCGGACATTCTGG	0.542													A	47991220	G	A	47991220	3	1	88	1	0	0	0	0	1	0	0	0	8012	1116	39	1	1703	1	KCNB1	20	47991220	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	12771681	47991220	15034300	936	58358											
ZNF217	7764	broad.mit.edu	37	chr20	52192367	52192367	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagtcagcacatttggagaaTcgacctcgctggagctcagg	12	11	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:52192367T>A	uc002xwq.3	-	3	3207	c.2936A>T	c.(2935-2937)GAT>GTT	p.D979V	ZNF217_uc010gij.1_Missense_Mutation_p.D971V	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	979					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			ATTTGGAGAATCGACCTCGCT	0.552													A	52192367	T	A	52192367	3	1	88	1	0	0	0	0	1	0	0	0	17769	1435	50	5	218	5	ZNF217	20	52192367	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	4201147	52192367	10833153	937	58359											
DOK5	55816	broad.mit.edu	37	chr20	53205319	53205319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagagcctgacttactggCcactggggttgagagagaac	15	8	0	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:53205319C>T	uc002xwy.2	+	4	603	c.383C>T	c.(382-384)GCC>GTC	p.A128V	DOK5_uc010gin.2_Missense_Mutation_p.A20V|DOK5_uc002xwz.2_Missense_Mutation_p.P12S	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	docking protein 5	128							insulin receptor binding			ovary(1)	1			Colorectal(105;0.202)			GACTTACTGGCCACTGGGGTT	0.418													T	53205319	C	T	53205319	3	4	88	1	0	0	0	0	1	0	0	0	4700	739	26	2	397	2	DOK5	20	53205319	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1012952	53205319	9820201	938	58360											
GMEB2	26205	broad.mit.edu	37	chr20	62221599	62221599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggcccaggccaggcaacGtgagcagctgtagcgggctg	18	11	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:62221599G>A	uc002yfp.1	-	9	1915	c.1436C>T	c.(1435-1437)ACG>ATG	p.T479M	GMEB2_uc002yfo.1_Missense_Mutation_p.T401M|GMEB2_uc002yfq.1_Missense_Mutation_p.T479M	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding	479					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding				0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GCCAGGCAACGTGAGCAGCTG	0.697													A	62221599	G	A	62221599	3	1	88	1	0	0	0	0	1	0	0	0	6488	1145	40	1	160	1	GMEB2	20	62221599	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	9016280	62221599	803921	939	58361											
ZGPAT	84619	broad.mit.edu	37	chr20	62364695	62364695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcctctggcacgcagcaCgcatcaccggtgaggctggc	14	14	2	1	rs145256068		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:62364695C>T	uc002ygk.2	+	3	887	c.709C>T	c.(709-711)CGC>TGC	p.R237C	ZGPAT_uc002ygi.2_Missense_Mutation_p.R237C|ZGPAT_uc002ygj.2_Missense_Mutation_p.R237C|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Missense_Mutation_p.R237C|ZGPAT_uc002ygm.2_Missense_Mutation_p.R237C|ZGPAT_uc002ygn.3_RNA|LIME1_uc011abi.1_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	237					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCACGCAGCACGCATCACCGG	0.672													T	62364695	C	T	62364695	3	4	88	1	0	0	0	0	1	0	0	0	17671	536	19	1	715	1	ZGPAT	20	62364695	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	143096	62364695	660825	940	58362											
KRTAP11-1	337880	broad.mit.edu	37	chr21	32253379	32253379	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcttcggcagctggacacGcaggactgctgatacgtcct	12	12	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr21:32253379G>A	uc002yov.2	-	1	496	c.465C>T	c.(463-465)TGC>TGT	p.C155C		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	155						keratin filament	structural molecule activity			pancreas(1)	1						AGCTGGACACGCAGGACTGCT	0.582													A	32253379	G	A	32253379	2	1	88	1	0	0	0	0	0	0	0	1	8517	1079	38	1		1	KRTAP11-1	21	32253379	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08		32253379	15876516	941	58363											
TIAM1	7074	broad.mit.edu	37	chr21	32617947	32617947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtctatcccagacctgcCgtcgctctcgtagaaaaata	9	12	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr21:32617947C>T	uc002yow.1	-	7	1913	c.1441G>A	c.(1441-1443)GGC>AGC	p.G481S	TIAM1_uc011adk.1_Missense_Mutation_p.G481S|TIAM1_uc011adl.1_Missense_Mutation_p.G481S|TIAM1_uc002yox.1_Missense_Mutation_p.G89S	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	481	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CCAGACCTGCCGTCGCTCTCG	0.527													T	32617947	C	T	32617947	3	4	88	1	0	0	0	0	1	0	0	0	15887	652	23	1	3426	1	TIAM1	21	32617947	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	364568	32617947	15511948	942	58364											
IFNAR1	3454	broad.mit.edu	37	chr21	34721401	34721401	+	Frame_Shift_Del	DEL	T	T	-													atatttgtcttaaaagcgccTttttaaaaaggaatcctgga							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr21:34721400_34721400CT>C	uc002yrn.3	+	6	939	c.792_792CT>C	c.(790-792)gccfs	p.A264fs	IFNAR1_uc011adv.2_Frame_Shift_Del_p.A195fs	NM_000629	NP_000620	P17181	INAR1_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 1 (IFNAR1), mRNA.	264	Fibronectin type-III 2.				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TTAAAAGCGCCTTTTTAAAAA	0.303													-	34721401	T	-	34721401	7	5	88	1	0	1	0	1	0	0	0	0	7544	1609	56	0	819	0	IFNAR1	21	34721401	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	2103454	34721401	13408494	943	58365											
GART	2618	broad.mit.edu	37	chr21	34882226	34882226	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgactttcacacgtggggaAccttcatttcaaacatatcc	6	11	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr21:34882226A>G	uc002yrx.2	-	18	2451	c.2316T>C	c.(2314-2316)GGT>GGC	p.G772G	GART_uc002yrz.2_Silent_p.G772G|GART_uc010gmd.2_Silent_p.G434G|GART_uc002yry.2_Silent_p.G772G	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	772	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)	CACGTGGGGAACCTTCATTTC	0.303													G	34882226	A	G	34882226	2	3	88	1	0	0	0	0	0	0	0	1	6243	57	2	3		3	GART	21	34882226	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	160825	34882226	13247669	944	58366											
GART	2618	broad.mit.edu	37	chr21	34903066	34903066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagtcttcgggaagtaccTgaggggctggacaataggct	15	8	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr21:34903066T>C	uc002yrx.2	-	7	857	c.722A>G	c.(721-723)CAG>CGG	p.Q241R	GART_uc002yrz.2_Missense_Mutation_p.Q241R|GART_uc010gmd.2_5'UTR|GART_uc002yry.2_Missense_Mutation_p.Q241R|GART_uc002ysa.2_Missense_Mutation_p.Q241R	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	241	ATP-grasp.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)	GGGAAGTACCTGAGGGGCTGG	0.483													C	34903066	T	C	34903066	3	2	88	1	0	0	0	0	1	0	0	0	6243	1594	55	3	2378	3	GART	21	34903066	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	20840	34903066	13226829	945	58367											
PTTG1IP	754	broad.mit.edu	37	chr21	46275129	46275129	+	Frame_Shift_Del	DEL	T	T	-													cgtgaccagtccttaccataTttttttctgatttcatcatg							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr21:46275128_46275128AT>A	uc002zgb.2	-	4	780	c.493_493AT>T	c.(493-495)tatfs	p.Y165fs	PTTG1IP_uc011afk.2_Intron	NM_004339	NP_004330	P53801	PTTG_HUMAN	Homo sapiens pituitary tumor-transforming 1 interacting protein (PTTG1IP), mRNA.	165					protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCCTTACCATATTTTTTTCTG	0.507													-	46275129	T	-	46275129	7	5	88	1	0	1	0	1	0	0	0	0	12820	1490	52	0	58	0	PTTG1IP	21	46275129	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	11372063	46275129	1854766	946	58368											
POFUT2	23275	broad.mit.edu	37	chr21	46689763	46689763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctccataccctttctgaCggcatctgtggccacaaaca	7	14	2	1	rs141785110	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr21:46689763C>T	uc002zhc.2	-	7	1028	c.1003G>A	c.(1003-1005)GTC>ATC	p.V335I	POFUT2_uc002zha.2_RNA|POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Missense_Mutation_p.V335I	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2 isoform C	335					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity				0				Colorectal(79;0.243)		CCCTTTCTGACGGCATCTGTG	0.383													T	46689763	C	T	46689763	3	4	88	1	0	0	0	0	1	0	0	0	12184	536	19	1	437	1	POFUT2	21	46689763	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	414634	46689763	1440132	947	58369											
COL6A1	1291	broad.mit.edu	37	chr21	47401807	47401807	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcccctgctgctgcaggccTgctggacagccgcgcaggat	14	15	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr21:47401807T>C	uc002zhu.1	+	1	145	c.43T>C	c.(43-45)TGC>CGC	p.C15R		NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	15					axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCTGCAGGCCTGCTGGACAGC	0.736													C	47401807	T	C	47401807	3	2	88	1	0	0	0	0	1	0	0	0	3699	1580	55	3	45	3	COL6A1	21	47401807	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	712044	47401807	728088	948	58370											
COL6A2	1292	broad.mit.edu	37	chr21	47552160	47552160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactccttctcgcacgtgggCgcaggcgtggtgcacgccat	13	14	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr21:47552160C>T	uc002zia.1	+	28	2836	c.2754C>T	c.(2752-2754)GGC>GGT	p.G918G	COL6A2_uc002zib.1_Silent_p.G324G|COL6A2_uc002zic.1_5'UTR|COL6A2_uc010gqe.1_RNA	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	918	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CGCACGTGGGCGCAGGCGTGG	0.677													T	47552160	C	T	47552160	2	4	88	1	0	0	0	0	0	0	0	1	3700	755	27	1		1	COL6A2	21	47552160	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	150353	47552160	577735	949	58371											
PCNT	5116	broad.mit.edu	37	chr21	47841889	47841889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggtgtttttaggtgacGgctcgggttttggagcaaga	16	5	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr21:47841889G>A	uc002zji.3	+	32	7137	c.7030G>A	c.(7030-7032)GGC>AGC	p.G2344S	PCNT_uc002zjj.2_Missense_Mutation_p.G2226S	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2344					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					TTTAGGTGACGGCTCGGGTTT	0.637													A	47841889	G	A	47841889	3	1	88	1	0	0	0	0	1	0	0	0	11590	1116	39	1	7156	1	PCNT	21	47841889	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	289729	47841889	288006	950	58372											
CCT8L2	150160	broad.mit.edu	37	chr22	17072813	17072813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatcctccagtgtcccccCgggcagcgcgcacaccccaa	10	19	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:17072813C>T	uc002zlp.1	-	1	888	c.628G>A	c.(628-630)GGG>AGG	p.G210R		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	210					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGTGTCCCCCCGGGCAGCGCG	0.612													T	17072813	C	T	17072813	3	4	88	1	0	0	0	0	1	0	0	0	2961	652	23	1	1049	1	CCT8L2	22	17072813	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08		17072813	34231753	951	58373											
SLC25A18	83733	broad.mit.edu	37	chr22	18072980	18072980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttattgggattggagagcGcatcttaaagtgttttgact	11	4	1	2	rs140365489	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:18072980G>A	uc002zmp.1	+	11	1420	c.926G>A	c.(925-927)CGC>CAC	p.R309H	SLC25A18_uc002zmq.1_Missense_Mutation_p.R309H	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN	solute carrier	309						integral to membrane|mitochondrial inner membrane	binding|symporter activity				0				Lung(27;0.124)	L-Glutamic Acid(DB00142)	ATTGGAGAGCGCATCTTAAAG	0.542													A	18072980	G	A	18072980	3	1	88	1	0	0	0	0	1	0	0	0	14480	1087	38	1	960	1	SLC25A18	22	18072980	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1000167	18072980	33231586	952	58374											
DGCR14	8220	broad.mit.edu	37	chr22	19130370	19130370	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctggagcttctccacaTcaggaaagaaatccctttgg	10	11	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:19130370T>G	uc002zou.2	-	2	210	c.173A>C	c.(172-174)GAT>GCT	p.D58A	DGCR14_uc002zot.2_5'UTR|DGCR14_uc002zov.2_RNA	NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region protein 14	58					nervous system development	catalytic step 2 spliceosome				ovary(1)	1	Colorectal(54;0.0993)					CTTCTCCACATCAGGAAAGAA	0.438													G	19130370	T	G	19130370	3	3	88	1	0	0	0	0	1	0	0	0	4460	1435	50	5	1293	5	DGCR14	22	19130370	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	1057390	19130370	32174196	953	58375											
CLDN5	7122	broad.mit.edu	37	chr22	19511290	19511290	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcccagccgatgtacagCgctgcgcccagctcgtactt	11	17	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:19511290C>T	uc002zpu.2	-	2	959	c.744G>A	c.(742-744)GCG>GCA	p.A248A	CLDN5_uc010grr.2_Silent_p.A248A	NM_003277	NP_003268	O00501	CLD5_HUMAN	claudin 5	163	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0	Colorectal(54;0.0993)					CGATGTACAGCGCTGCGCCCA	0.672													T	19511290	C	T	19511290	2	4	88	1	0	0	0	0	0	0	0	1	3488	755	27	1		1	CLDN5	22	19511290	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	380920	19511290	31793276	954	58376											
TBX1	6899	broad.mit.edu	37	chr22	19748693	19748693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggccgcagccaaggcgccGgtgaagaagaacgcgaaggt	17	11	0	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:19748693G>A	uc002zqb.2	+	3	429	c.300G>A	c.(298-300)CCG>CCA	p.P100P	TBX1_uc002zqa.1_Silent_p.P100P|TBX1_uc002zqc.2_Silent_p.P100P	NM_080646	NP_542377	O43435	TBX1_HUMAN	T-box 1 isoform A	100					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|breast(1)	2	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CCAAGGCGCCGGTGAAGAAGA	0.493													A	19748693	G	A	19748693	2	1	88	1	0	0	0	0	0	0	0	1	15647	1103	39	1		1	TBX1	22	19748693	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	237403	19748693	31555873	955	58377											
ARVCF	421	broad.mit.edu	37	chr22	19961272	19961272	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagttccacaagcaccggCagcccgcgctctttgcgcac	10	17	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:19961272C>T	uc002zqz.2	-	13	2404	c.2133G>A	c.(2131-2133)CTG>CTA	p.L711L	ARVCF_uc002zqy.2_Silent_p.L227L	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	711	ARM 8.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					CAAGCACCGGCAGCCCGCGCT	0.657													T	19961272	C	T	19961272	2	4	88	1	0	0	0	0	0	0	0	1	1003	697	25	2		2	ARVCF	22	19961272	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	212579	19961272	31343294	956	58378											
GNAZ	2781	broad.mit.edu	37	chr22	23438138	23438138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcgctgacccgcatcatcCgggccctggccgccctcagg	11	19	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:23438138C>T	uc002zwu.1	+	2	793	c.256C>T	c.(256-258)CGG>TGG	p.R86W	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	86						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CCGCATCATCCGGGCCCTGGC	0.632													T	23438138	C	T	23438138	3	4	88	1	0	0	0	0	1	0	0	0	6514	643	23	1	258	1	GNAZ	22	23438138	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	3476866	23438138	27866428	957	58379											
CABIN1	23523	broad.mit.edu	37	chr22	24572175	24572175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggcccccacaagttcccCggcagagccacactgctggc	11	17	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:24572175C>T	uc002zzi.1	+	35	6264	c.6137C>T	c.(6136-6138)CCG>CTG	p.P2046L	CABIN1_uc002zzj.1_Missense_Mutation_p.P1967L|CABIN1_uc002zzl.1_Missense_Mutation_p.P2046L|CABIN1_uc010gul.1_Intron	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2046					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						ACAAGTTCCCCGGCAGAGCCA	0.682													T	24572175	C	T	24572175	3	4	88	1	0	0	0	0	1	0	0	0	2528	652	23	1	6271	1	CABIN1	22	24572175	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1134037	24572175	26732391	958	58380											
CABIN1	23523	broad.mit.edu	37	chr22	24574128	24574128	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagtcctcgctggagagCgagacagacgaggacgacga	16	10	0	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:24574128C>T	uc002zzi.1	+	37	6754	c.6627C>T	c.(6625-6627)AGC>AGT	p.S2209S	CABIN1_uc002zzj.1_Silent_p.S2130S|CABIN1_uc002zzl.1_Silent_p.S2209S|CABIN1_uc010gul.1_Silent_p.S147S	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2209					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						CGCTGGAGAGCGAGACAGACG	0.617													T	24574128	C	T	24574128	2	4	88	1	0	0	0	0	0	0	0	1	2528	767	27	1		1	CABIN1	22	24574128	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1953	24574128	26730438	959	58381											
GGT1	2678	broad.mit.edu	37	chr22	25024064	25024064	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggaagcagccgctctcGtccatgtgcccgacgatcat	12	14	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:25024064G>A	uc003aan.1	+	14	1840	c.1353G>A	c.(1351-1353)TCG>TCA	p.S451S	GGT1_uc003aas.1_Silent_p.S451S|GGT1_uc003aat.1_Silent_p.S451S|GGT1_uc003aau.1_Silent_p.S451S|GGT1_uc003aav.1_Silent_p.S451S|GGT1_uc003aaw.1_Silent_p.S451S|GGT1_uc003aax.1_Silent_p.S451S|GGT1_uc003aay.1_Silent_p.S107S	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	451	Extracellular (Potential).			S->A: Reduces enzyme activity by 99%. Abolishes activity; when associated with A-452.	glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)	AGCCGCTCTCGTCCATGTGCC	0.687													A	25024064	G	A	25024064	2	1	88	1	0	0	0	0	0	0	0	1	6361	1132	40	1		1	GGT1	22	25024064	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	449936	25024064	26280502	960	58382											
CRYBB3	1417	broad.mit.edu	37	chr22	25601264	25601264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggagatagtggatgatgaCgtgcccagcctgtgggctca	15	8	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:25601264C>T	uc003abo.1	+	5	477	c.405C>T	c.(403-405)GAC>GAT	p.D135D		NM_004076	NP_004067	P26998	CRBB3_HUMAN	crystallin, beta B3	135	Beta/gamma crystallin 'Greek key' 3.				visual perception		protein binding|structural constituent of eye lens				0						TGGATGATGACGTGCCCAGCC	0.572													T	25601264	C	T	25601264	2	4	88	1	0	0	0	0	0	0	0	1	3912	535	19	1		1	CRYBB3	22	25601264	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	577200	25601264	25703302	961	58383											
HPS4	89781	broad.mit.edu	37	chr22	26860585	26860585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttgtgcagtcctgcgggCctgatgctctccagatcatg	13	11	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:26860585C>T	uc003acl.2	-	11	1670	c.1011G>A	c.(1009-1011)AGG>AGA	p.R337R	HPS4_uc003aci.2_Silent_p.R332R|HPS4_uc003acj.2_Silent_p.R201R|HPS4_uc003ack.2_Silent_p.R128R|HPS4_uc003acn.2_Silent_p.R183R|HPS4_uc010gvd.1_Silent_p.R355R|HPS4_uc003ach.2_Silent_p.R72R	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	337					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0						GTCCTGCGGGCCTGATGCTCT	0.577									Hermansky-Pudlak_syndrome				T	26860585	C	T	26860585	2	4	88	1	0	0	0	0	0	0	0	1	7341	738	26	2		2	HPS4	22	26860585	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1259321	26860585	24443981	962	58384											
MN1	4330	broad.mit.edu	37	chr22	28193443	28193443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgtccgacttggccccgCcgtccagggacccaatgagg	12	15	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:28193443C>T	uc003adj.2	-	1	4044	c.3089G>A	c.(3088-3090)GGC>GAC	p.G1030D		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	1030							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						CTTGGCCCCGCCGTCCAGGGA	0.652			T	ETV6	AML|meningioma								T	28193443	C	T	28193443	3	4	88	1	0	0	0	0	1	0	0	0	9673	739	26	2	881	2	MN1	22	28193443	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1332858	28193443	23111123	963	58385											
NEFH	4744	broad.mit.edu	37	chr22	29879422	29879422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagacgctatgcgctcagcGcaggaggagataactgagta	13	9	1	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:29879422G>A	uc003afo.2	+	2	1013	c.942G>A	c.(940-942)GCG>GCA	p.A314A		NM_021076	NP_066554	P12036	NFH_HUMAN	neurofilament, heavy polypeptide 200kDa	314	Coil 2B.|Rod.				cell death|nervous system development	neurofilament					0						TGCGCTCAGCGCAGGAGGAGA	0.612													A	29879422	G	A	29879422	2	1	88	1	0	0	0	0	0	0	0	1	10314	1074	38	1		1	NEFH	22	29879422	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1685979	29879422	21425144	964	58386											
OSBP2	23762	broad.mit.edu	37	chr22	31091509	31091509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaccagcgccgctggttcGtgctgggcaatggtttgctc	14	12	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:31091509G>A	uc003aiy.1	+	1	717	c.613G>A	c.(613-615)GTG>ATG	p.V205M	OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc003aix.1_Missense_Mutation_p.V205M|OSBP2_uc011alb.1_Missense_Mutation_p.V205M|OSBP2_uc003aiz.1_Missense_Mutation_p.V205M	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	205	PH.				lipid transport	membrane	lipid binding			breast(1)|skin(1)	2						CCGCTGGTTCGTGCTGGGCAA	0.602													A	31091509	G	A	31091509	3	1	88	1	0	0	0	0	1	0	0	0	11274	1145	40	1	615	1	OSBP2	22	31091509	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1212087	31091509	20213057	965	58387											
DEPDC5	9681	broad.mit.edu	37	chr22	32200851	32200851	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataatcggagtgctccccgTgattctcgtctgggcgatga	12	11	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:32200851T>C	uc003als.2	+	17	1309	c.1167T>C	c.(1165-1167)CGT>CGC	p.R389R	DEPDC5_uc011als.1_Silent_p.R389R|DEPDC5_uc011alu.1_Silent_p.R389R|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Silent_p.R389R|DEPDC5_uc003alr.1_Silent_p.R389R|DEPDC5_uc011alt.1_Silent_p.R361R	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	389					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						GTGCTCCCCGTGATTCTCGTC	0.443													C	32200851	T	C	32200851	2	2	88	1	0	0	0	0	0	0	0	1	4442	1683	59	3		3	DEPDC5	22	32200851	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	1109342	32200851	19103715	966	58388											
MYH9	4627	broad.mit.edu	37	chr22	36714278	36714278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttagtctgcgccttctggaCgtaatcccgtcccaccttga	8	14	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:36714278C>T	uc003apg.2	-	11	1432	c.1201G>A	c.(1201-1203)GTC>ATC	p.V401I	MYH9_uc003aph.1_Missense_Mutation_p.V265I	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	401	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GCCTTCTGGACGTAATCCCGT	0.562			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				T	36714278	C	T	36714278	3	4	88	1	0	0	0	0	1	0	0	0	10042	536	19	1	4805	1	MYH9	22	36714278	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	4513427	36714278	14590288	967	58389											
TST	7263	broad.mit.edu	37	chr22	37407108	37407108	+	Frame_Shift_Del	DEL	G	G	-													cctgggacacacggctctctGggggggcccggcgaaaccac							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:37407107_37407107TG>T	uc003aqg.3	-	1	1550	c.855_855CA>A	c.(853-855)ccafs	p.P285fs	TST_uc003aqh.3_Frame_Shift_Del_p.P285fs	NM_003312	NP_003303	Q16762	THTR_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese) (TST), nuclear gene encoding mitochondrial protein, mRNA.	285	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						CACGGCTCTCTGGGGGGGCCC	0.627													-	37407108	G	-	37407108	7	5	88	1	0	1	0	1	0	0	0	0	16670	1348	47	0	43	0	TST	22	37407108	Frame_Shift_Del	DEL	G	TCGA-BR-8382-01A-11D-2394-08	692830	37407108	13897458	968	58390											
IL2RB	3560	broad.mit.edu	37	chr22	37524763	37524763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaaggatgcgggctcaggCaccttgtcctgctgcaggag	14	11	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:37524763C>T	uc003aqv.1	-	10	1160	c.1029G>A	c.(1027-1029)GTG>GTA	p.V343V		NM_000878	NP_000869	P14784	IL2RB_HUMAN	interleukin 2 receptor beta precursor	343	Cytoplasmic (Potential).				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity				0					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CGGGCTCAGGCACCTTGTCCT	0.597													T	37524763	C	T	37524763	2	4	88	1	0	0	0	0	0	0	0	1	7687	697	25	2		2	IL2RB	22	37524763	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	117655	37524763	13779803	969	58391											
GGA1	26088	broad.mit.edu	37	chr22	38016860	38016860	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcttccagatgacactacCtttccccttcctcctccacg	4	18	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:38016860C>A	uc003atc.2	+	6	833	c.468C>A	c.(466-468)ACC>ACA	p.T156T	GGA1_uc003atd.2_Silent_p.T156T|GGA1_uc003ate.2_Silent_p.T156T|GGA1_uc003atf.2_Silent_p.T83T	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	156	Interaction with ARF3.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					ATGACACTACCTTTCCCCTTC	0.522													A	38016860	C	A	38016860	2	1	88	1	0	0	0	0	0	0	0	1	6352	668	24	5		5	GGA1	22	38016860	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	492097	38016860	13287706	970	58392											
PLA2G6	8398	broad.mit.edu	37	chr22	38531068	38531068	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggatctggctgctgtccAtgctgatgatcatctccgca	11	11	3	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:38531068A>G	uc003auy.1	-	6	957	c.821T>C	c.(820-822)ATG>ACG	p.M274T	PLA2G6_uc003auz.1_Missense_Mutation_p.M274T|PLA2G6_uc003ava.1_Missense_Mutation_p.M274T|PLA2G6_uc003avb.2_Missense_Mutation_p.M274T|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Missense_Mutation_p.M239T	NM_003560	NP_003551	O60733	PA2G6_HUMAN	phospholipase A2, group VI isoform a	274	ANK 4.				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				ovary(1)	1	Melanoma(58;0.045)				Quinacrine(DB01103)	GCTGCTGTCCATGCTGATGAT	0.622													G	38531068	A	G	38531068	3	3	88	1	0	0	0	0	1	0	0	0	12008	217	8	3	1647	3	PLA2G6	22	38531068	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	514208	38531068	12773498	971	58393											
DMC1	11144	broad.mit.edu	37	chr22	38933618	38933618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatagttgctcctggatcgGcagtcatttgattggtcaca	10	9	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:38933618G>A	uc003avz.1	-	12	990	c.815C>T	c.(814-816)GCC>GTC	p.A272V	DMC1_uc011anv.1_Missense_Mutation_p.A217V	NM_007068	NP_008999	Q14565	DMC1_HUMAN	DMC1 dosage suppressor of mck1 homolog	272					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			ovary(1)	1	Melanoma(58;0.0286)					TCCTGGATCGGCAGTCATTTG	0.323								Homologous_recombination					A	38933618	G	A	38933618	3	1	88	1	0	0	0	0	1	0	0	0	4579	1203	42	2	219	2	DMC1	22	38933618	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	402550	38933618	12370948	972	58394											
CBX6	23466	broad.mit.edu	37	chr22	39263058	39263058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccgggcggggcaggggaCggcgggacatacggtggcag	23	9	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:39263058C>T	uc003awl.2	-	5	458	c.395G>A	c.(394-396)CGT>CAT	p.R132H		NM_014292	NP_055107	O95503	CBX6_HUMAN	chromobox homolog 6	132					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex					0	Melanoma(58;0.04)					GGGCAGGGGACGGCGGGACAT	0.706													T	39263058	C	T	39263058	3	4	88	1	0	0	0	0	1	0	0	0	2722	536	19	1	847	1	CBX6	22	39263058	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	329440	39263058	12041508	973	58395											
XPNPEP3	63929	broad.mit.edu	37	chr22	41310311	41310311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagtgacatcacacgtacGtggccagtcaatggcaggta	13	9	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:41310311G>A	uc003azh.2	+	7	1130	c.1038G>A	c.(1036-1038)ACG>ACA	p.T346T	XPNPEP3_uc003azi.2_Silent_p.T267T|XPNPEP3_uc011aoy.1_RNA	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3,	346					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity				0						TCACACGTACGTGGCCAGTCA	0.448													A	41310311	G	A	41310311	2	1	88	1	0	0	0	0	0	0	0	1	17441	1132	40	1		1	XPNPEP3	22	41310311	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2047253	41310311	9994255	974	58396											
EP300	2033	broad.mit.edu	37	chr22	41566520	41566520	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccaagcgactgcaggaatGgtacaaaaaaatgcttgaca	10	9	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:41566520G>T	uc003azl.3	+	27	4792	c.4397G>T	c.(4396-4398)TGG>TTG	p.W1466L		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1466					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CTGCAGGAATGGTACAAAAAA	0.478			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				T	41566520	G	T	41566520	3	4	88	1	0	0	0	0	1	0	0	0	5148	1357	47	5	4503	5	EP300	22	41566520	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	256209	41566520	9738046	975	58397											
POLDIP3	84271	broad.mit.edu	37	chr22	42998873	42998873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcaagctgatcttctccCgggcatcagcaacctggcgg	10	14	5	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:42998873C>T	uc003bcu.2	-	2	452	c.353G>A	c.(352-354)CGG>CAG	p.R118Q	POLDIP3_uc011app.1_Missense_Mutation_p.R22Q|POLDIP3_uc003bcv.2_Missense_Mutation_p.R118Q|POLDIP3_uc011apq.1_Missense_Mutation_p.R118Q|POLDIP3_uc010gza.2_RNA|POLDIP3_uc011apr.1_RNA|POLDIP3_uc010gzb.1_Missense_Mutation_p.R118Q	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN	DNA polymerase delta interacting protein 3	118					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding				0						GATCTTCTCCCGGGCATCAGC	0.557													T	42998873	C	T	42998873	3	4	88	1	0	0	0	0	1	0	0	0	12195	652	23	1	944	1	POLDIP3	22	42998873	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1432353	42998873	8305693	976	58398											
SCUBE1	80274	broad.mit.edu	37	chr22	43617179	43617179	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcagggcgtcccactcacCcagcagcggctgcctggcgg	15	16	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:43617179C>A	uc003bdt.1	-	13	1637	c.1549G>T	c.(1549-1551)GAC>TAC	p.D517Y		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	517					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				TCCCACTCACCCAGCAGCGGC	0.647													A	43617179	C	A	43617179	3	1	88	1	0	0	0	0	1	0	0	0	13944	637	22	5	1457	5	SCUBE1	22	43617179	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	618306	43617179	7687387	977	58399											
EFCAB6	64800	broad.mit.edu	37	chr22	43924750	43924750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctactggaggaatgcccGgaggaagtcgttgtaggaga	16	6	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:43924750G>A	uc003bdy.1	-	32	4704	c.4489C>T	c.(4489-4491)CGG>TGG	p.R1497W	EFCAB6_uc003bdz.1_Missense_Mutation_p.R1345W|EFCAB6_uc010gzi.1_Missense_Mutation_p.R1345W	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1497	Interaction with AR.|Interaction with PARK7.|EF-hand 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				AGGAATGCCCGGAGGAAGTCG	0.483													A	43924750	G	A	43924750	3	1	88	1	0	0	0	0	1	0	0	0	4939	1115	39	1	20	1	EFCAB6	22	43924750	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	307571	43924750	7379816	978	58400											
GTSE1	51512	broad.mit.edu	37	chr22	46704465	46704465	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctgccaagcctgaagacccTcggagccagggcgtggaaag	15	12	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:46704465T>A	uc011aqy.1	+	4	599	c.387T>A	c.(385-387)CCT>CCA	p.P129P	GTSE1_uc011aqz.1_5'UTR	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	110					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CTGAAGACCCTCGGAGCCAGG	0.463													A	46704465	T	A	46704465	2	1	88	1	0	0	0	0	0	0	0	1	6885	1538	54	5		5	GTSE1	22	46704465	Silent	SNP	T	TCGA-BR-8382-01A-11D-2394-08	2779715	46704465	4600101	979	58401											
BRD1	23774	broad.mit.edu	37	chr22	50187724	50187724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcgcagctccgtcctcttCgaagccttccaagcctggcc	9	18	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:50187724C>T	uc003biv.2	-	6	2804	c.2317G>A	c.(2317-2319)GAA>AAA	p.E773K	BRD1_uc011arf.1_Missense_Mutation_p.E368K|BRD1_uc011arg.1_Missense_Mutation_p.E822K|BRD1_uc011arh.1_Missense_Mutation_p.E773K|BRD1_uc003biu.3_Missense_Mutation_p.E773K	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	773					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCGTCCTCTTCGAAGCCTTCC	0.652													T	50187724	C	T	50187724	3	4	88	1	0	0	0	0	1	0	0	0	1501	893	31	1	887	1	BRD1	22	50187724	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	3483259	50187724	1116842	980	58402											
PANX2	56666	broad.mit.edu	37	chr22	50615792	50615792	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaagtacctggagcgccgCggccgcagcaacttcctggc	14	14	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:50615792C>T	uc003bjn.3	+	2	651	c.651C>T	c.(649-651)CGC>CGT	p.R217R	PANX2_uc003bjp.3_Silent_p.R83R|PANX2_uc003bjo.3_Silent_p.R217R	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	217	Cytoplasmic (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		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)		TGGAGCGCCGCGGCCGCAGCA	0.647													T	50615792	C	T	50615792	2	4	88	1	0	0	0	0	0	0	0	1	11421	755	27	1		1	PANX2	22	50615792	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	428068	50615792	688774	981	58403											
PANX2	56666	broad.mit.edu	37	chr22	50617461	50617461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtccgctcacctcccgccGcccctgctgtggcccctctg	9	22	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:50617461G>A	uc003bjn.3	+	3	1789	c.1789G>A	c.(1789-1791)GCC>ACC	p.A597T	PANX2_uc003bjp.3_Missense_Mutation_p.A463T|PANX2_uc003bjo.3_Missense_Mutation_p.A597T	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	597	Cytoplasmic (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		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)		ACCTCCCGCCGCCCCTGCTGT	0.692													A	50617461	G	A	50617461	3	1	88	1	0	0	0	0	1	0	0	0	11421	1087	38	1	1799	1	PANX2	22	50617461	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	1669	50617461	687105	982	58404											
SBF1	6305	broad.mit.edu	37	chr22	50885994	50885994	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgaaccagcgggccttccaaGgcttcatgaaggcccccttc	10	16	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:50885994G>T	uc003blh.2	-	39	5603	c.5408C>A	c.(5407-5409)CCT>CAT	p.P1803H	SBF1_uc003ble.2_Missense_Mutation_p.P267H|SBF1_uc003blf.2_Missense_Mutation_p.P279H|SBF1_uc011arx.1_Missense_Mutation_p.P1441H	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1777	PH.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGCCTTCCAAGGCTTCATGAA	0.632													T	50885994	G	T	50885994	3	4	88	1	0	0	0	0	1	0	0	0	13858	1000	35	5	285	5	SBF1	22	50885994	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	268533	50885994	418572	983	58405											
DHRSX	207063	broad.mit.edu	37	chrX	2139163	2139163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttctggttgtaggtgacGtggagggacttggtctcttt	15	5	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:2139163G>A	uc004cqf.3	-	7	961	c.912C>T	c.(910-912)CAC>CAT	p.H304H		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	304							binding|oxidoreductase activity				0		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGTAGGTGACGTGGAGGGACT	0.522													A	2139163	G	A	2139163	2	1	88	1	0	0	0	0	0	0	0	1	4499	1136	40	1		1	DHRSX	23	2139163	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08		2139163	153131397	984	58406											
TLR7	51284	broad.mit.edu	37	chrX	12906073	12906073	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacagatgtgacttgtgtgGggccaggagcacacaagggc	15	10	0	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:12906073G>T	uc004cvc.2	+	3	2585	c.2446G>T	c.(2446-2448)GGG>TGG	p.G816W		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	816	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)	GACTTGTGTGGGGCCAGGAGC	0.488													T	12906073	G	T	12906073	3	4	88	1	0	0	0	0	1	0	0	0	15953	1232	43	5	2452	5	TLR7	23	12906073	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	10766910	12906073	142364487	985	58407											
GPM6B	2824	broad.mit.edu	37	chrX	13791024	13791025	+	Frame_Shift_Ins	INS	-	-	T													tgtaagaattgagttgttctINStttgaccgagactggatatc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:13791023_13791024C>CT	uc004cvw.3	-	7	1254_1255	c.963_964G>AG	c.(961-966)aaagaafs	p.K321fs	GPM6B_uc004cvx.3_Frame_Shift_Ins_p.K262fs|GPM6B_uc011mim.2_Frame_Shift_Ins_p.K295fs	NM_001001995	NP_001001995	Q13491	GPM6B_HUMAN	Homo sapiens glycoprotein M6B (GPM6B), transcript variant 1, mRNA.	0					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						TTGAGTTGTTCTTTTGACCGAG	0.431													T	13791025	-	T	13791024	7	5	88	1	0	1	1	0	0	0	0	0	6616	1606	56	0	27	0	GPM6B	23	13791024	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	884951	13791024	141479536	986	58408											
ASB11	140456	broad.mit.edu	37	chrX	15306058	15306058	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggagccgccagatcaagCgcacttttgccctgagcatt	10	12	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:15306058C>T	uc004cwp.1	-	6	792	c.792G>A	c.(790-792)GCG>GCA	p.A264A	ASB11_uc004cwo.1_Silent_p.A243A|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Silent_p.A247A	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box-containing protein	264					intracellular signal transduction					breast(2)|skin(1)	3	Hepatocellular(33;0.183)					CCAGATCAAGCGCACTTTTGC	0.537													T	15306058	C	T	15306058	2	4	88	1	0	0	0	0	0	0	0	1	1015	755	27	1		1	ASB11	23	15306058	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	1515034	15306058	139964502	987	58409											
BEND2	139105	broad.mit.edu	37	chrX	18198717	18198717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcgattcattgtgttgaCgctgttttccgtgttggtgt	13	6	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:18198717C>T	uc004cyj.3	-	9	1496	c.1342G>A	c.(1342-1344)GTC>ATC	p.V448I	BEND2_uc010nfb.2_Missense_Mutation_p.V357I	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	448										ovary(3)|kidney(1)|central_nervous_system(1)	5						ATTGTGTTGACGCTGTTTTCC	0.313													T	18198717	C	T	18198717	3	4	88	1	0	0	0	0	1	0	0	0	1398	536	19	1	1107	1	BEND2	23	18198717	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2892659	18198717	137071843	988	58410											
PTCHD1	139411	broad.mit.edu	37	chrX	23353224	23353224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcctcttcccggtcaacCgctccaagcaccgtctctac	6	19	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:23353224C>T	uc004dal.3	+	1	240	c.232C>T	c.(232-234)CGC>TGC	p.R78C	PTCHD1_uc010nfu.1_Missense_Mutation_p.R78C	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	78					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						CCCGGTCAACCGCTCCAAGCA	0.642													T	23353224	C	T	23353224	3	4	88	1	0	0	0	0	1	0	0	0	12732	652	23	1	234	1	PTCHD1	23	23353224	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	5154507	23353224	131917336	989	58411											
DMD	1756	broad.mit.edu	37	chrX	32361293	32361294	+	Frame_Shift_Ins	INS	-	-	T													gctcaggtaggctggctaatINStttttttcaatgtcatccaa							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:32361292_32361293A>AT	uc004dda.1	-	39	5941_5942	c.5697_5698T>AT	c.(5695-5700)aaattafs	p.K1899fs	DMD_uc004dcw.2_Frame_Shift_Ins_p.K555fs|DMD_uc004dcx.2_Frame_Shift_Ins_p.K558fs|DMD_uc004dcz.2_Frame_Shift_Ins_p.K1776fs|DMD_uc004dcy.1_Frame_Shift_Ins_p.K1895fs|DMD_uc004ddb.1_Frame_Shift_Ins_p.K1891fs|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1899	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGGCTGGCTAATTTTTTTTCAA	0.356													T	32361294	-	T	32361293	7	5	88	1	0	1	1	0	0	0	0	0	4580	1490	52	0	5668	0	DMD	23	32361293	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	9008069	32361293	122909267	990	58412											
CXorf22	170063	broad.mit.edu	37	chrX	36007458	36007458	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgttgaagcatattcctcActggaatgtgaagtaacttg	9	7	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:36007458A>C	uc004ddj.2	+	16	2795	c.2736A>C	c.(2734-2736)TCA>TCC	p.S912S	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	912										large_intestine(1)|lung(1)|ovary(1)	3						CATATTCCTCACTGGAATGTG	0.353													C	36007458	A	C	36007458	2	2	88	1	0	0	0	0	0	0	0	1	4102	146	6	5		5	CXorf22	23	36007458	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	3646165	36007458	119263102	991	58413											
CXorf59	286464	broad.mit.edu	37	chrX	36122661	36122662	+	Frame_Shift_Ins	INS	-	-	C													atactgcagcaataatatgcINScccccatatgtgtgcaaaat							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:36122660_36122661G>GC	uc004ddk.1	+	7	1083_1084	c.897_898G>GC	c.(895-900)atgcccfs	p.M299fs		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	299						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						GCAATAATATGCCCCCCATATG	0.351													C	36122662	-	C	36122661	7	5	88	1	0	1	1	0	0	0	0	0	4115	739	26	0	924	0	CXorf59	23	36122661	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	115203	36122661	119147899	992	58414											
GPR82	27197	broad.mit.edu	37	chrX	41586415	41586415	+	Frame_Shift_Del	DEL	A	A	-													tatttttaacaaaaataggtAaaaaaacatcaacgcacatc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:41586414_41586414TA>T	uc022bvd.1	+	0	135	c.135_135TA>T	c.(133-135)ggtfs	p.G45fs	CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR82_uc004dfu.1_Non-coding_Transcript|GPR82_uc004dft.3_Frame_Shift_Del_p.G45fs	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	Homo sapiens G protein-coupled receptor 82 (GPR82), mRNA.	45						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						CAAAAATAGGTAAAAAAACAT	0.373													-	41586415	A	-	41586415	7	5	88	1	0	1	0	1	0	0	0	0	6712	363	13	0	138	0	GPR82	23	41586415	Frame_Shift_Del	DEL	A	TCGA-BR-8382-01A-11D-2394-08	5463754	41586415	113684145	993	58415											
ZNF182	7569	broad.mit.edu	37	chrX	47836703	47836703	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcggtacatccaaaAggtttctctcccgtatgagt	7	12	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:47836703A>G	uc004dir.2	-	7	1129	c.783T>C	c.(781-783)CCT>CCC	p.P261P	ZNF182_uc004dis.2_Silent_p.P242P|ZNF182_uc004dit.2_Silent_p.P261P|ZNF182_uc011mlu.1_Silent_p.P241P	NM_006962	NP_008893	P17025	ZN182_HUMAN	zinc finger protein 21 isoform 1	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3						TACATCCAAAAGGTTTCTCTC	0.413													G	47836703	A	G	47836703	2	3	88	1	0	0	0	0	0	0	0	1	17747	59	3	3		3	ZNF182	23	47836703	Silent	SNP	A	TCGA-BR-8382-01A-11D-2394-08	6250288	47836703	107433857	994	58416											
ZNF182	7569	broad.mit.edu	37	chrX	47837005	47837005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catattatttccaaatgattCgtgtttatcgggtctttgta	7	6	1	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:47837005C>T	uc004dir.2	-	7	827	c.481G>A	c.(481-483)GAA>AAA	p.E161K	ZNF182_uc004dis.2_Missense_Mutation_p.E142K|ZNF182_uc004dit.2_Missense_Mutation_p.E161K|ZNF182_uc011mlu.1_Missense_Mutation_p.E141K	NM_006962	NP_008893	P17025	ZN182_HUMAN	zinc finger protein 21 isoform 1	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3						CCAAATGATTCGTGTTTATCG	0.328													T	47837005	C	T	47837005	3	4	88	1	0	0	0	0	1	0	0	0	17747	893	31	1	1442	1	ZNF182	23	47837005	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	302	47837005	107433555	995	58417											
AKAP4	8852	broad.mit.edu	37	chrX	49958568	49958568	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agaagcaatcttgctcgcagGagttcggggactgattctct	12	9	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:49958568G>C	uc004dow.1	-	5	920	c.796C>G	c.(796-798)CCT>GCT	p.P266A	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.P88A|AKAP4_uc004dou.1_Missense_Mutation_p.P257A	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	266					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					TTGCTCGCAGGAGTTCGGGGA	0.493													C	49958568	G	C	49958568	3	2	88	1	0	0	0	0	1	0	0	0	453	1174	41	5	1776	5	AKAP4	23	49958568	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2121563	49958568	105311992	996	58418											
SHROOM4	57477	broad.mit.edu	37	chrX	50377623	50377623	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgtcccaaaactaaagAcctgtcatccacttgtctgg	8	12	2	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:50377623A>G	uc004dpe.2	-	4	1476	c.1450T>C	c.(1450-1452)TCT>CCT	p.S484P	SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.S368P	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	484					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					AAAACTAAAGACCTGTCATCC	0.522													G	50377623	A	G	50377623	3	3	88	1	0	0	0	0	1	0	0	0	14296	275	10	3	3055	3	SHROOM4	23	50377623	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	419055	50377623	104892937	997	58419											
PHF8	23133	broad.mit.edu	37	chrX	53966872	53966872	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcagactgagattggagtcTtgagggcgaggctgttctac	15	7	3	3			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:53966872T>A	uc004dsu.2	-	21	2908	c.2835A>T	c.(2833-2835)CAA>CAT	p.Q945H	PHF8_uc004dst.2_Missense_Mutation_p.Q909H|PHF8_uc004dsv.2_Missense_Mutation_p.Q775H|PHF8_uc004dsw.2_Missense_Mutation_p.Q808H	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	945					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						GATTGGAGTCTTGAGGGCGAG	0.522													A	53966872	T	A	53966872	3	1	88	1	0	0	0	0	1	0	0	0	11840	1606	56	5	438	5	PHF8	23	53966872	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	3589249	53966872	101303688	998	58420											
GNL3L	54552	broad.mit.edu	37	chrX	54585017	54585017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagaggatcatggagaCggaccccctgcaacagggcc	14	13	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:54585017C>T	uc004dth.1	+	15	1734	c.1595C>T	c.(1594-1596)ACG>ATG	p.T532M	GNL3L_uc004dti.2_RNA	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3	532					ribosome biogenesis	nucleolus	GTP binding			ovary(1)	1						ATCATGGAGACGGACCCCCTG	0.582													T	54585017	C	T	54585017	3	4	88	1	0	0	0	0	1	0	0	0	6538	536	19	1	1649	1	GNL3L	23	54585017	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	618145	54585017	100685543	999	58421											
FAAH2	158584	broad.mit.edu	37	chrX	57318993	57318993	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaggacgtgaacccaatgatCaatggaattgtcaagtacag	10	7	2	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:57318993C>A	uc004dvc.2	+	2	404	c.255C>A	c.(253-255)ATC>ATA	p.I85I		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	85						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			ovary(3)	3						ACCCAATGATCAATGGAATTG	0.383										HNSCC(52;0.14)			A	57318993	C	A	57318993	2	1	88	1	0	0	0	0	0	0	0	1	5354	816	29	5		5	FAAH2	23	57318993	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2733976	57318993	97951567	1000	58422											
SPIN4	139886	broad.mit.edu	37	chrX	62570006	62570006	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atatcatcatcaaacttaatGaagtaaacagatggcttcgc	6	8	3	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:62570006G>T	uc004dvf.2	-	1	1213	c.693C>A	c.(691-693)TTC>TTA	p.F231L		NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN	spindlin family, member 4	231					gamete generation					ovary(1)|lung(1)	2						CAAACTTAATGAAGTAAACAG	0.408													T	62570006	G	T	62570006	3	4	88	1	0	0	0	0	1	0	0	0	15055	1281	45	5	60	5	SPIN4	23	62570006	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	5251013	62570006	92700554	1001	58423											
FAM123B	139285	broad.mit.edu	37	chrX	63412648	63412648	+	Frame_Shift_Del	DEL	A	A	-													cggtgacggcggatactgctAaaaaagccttttaggccttt							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:63412647_63412647TA>T	uc022byb.1	-	0	520	c.520_520TA>A	c.(520-522)agcfs	p.S174fs	FAM123B_uc004dvo.3_Frame_Shift_Del_p.S174fs	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	174					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)|p.F173fs*36(4)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						CGGATACTGCTAAAAAAGCCT	0.557													-	63412648	A	-	63412648	7	5	88	1	0	1	0	1	0	0	0	0	5423	359	13	0	2892	0	FAM123B	23	63412648	Frame_Shift_Del	DEL	A	TCGA-BR-8382-01A-11D-2394-08	842642	63412648	91857912	1002	58424											
HEPH	9843	broad.mit.edu	37	chrX	65423338	65423338	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgcaagaatctactataTcatggcagaagaagtagagt	10	6	2	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:65423338T>C	uc011moz.1	+	13	2279	c.2219T>C	c.(2218-2220)ATC>ACC	p.I740T	HEPH_uc004dwn.2_Missense_Mutation_p.I740T|HEPH_uc004dwo.2_Missense_Mutation_p.I470T|HEPH_uc010nkr.2_Missense_Mutation_p.I548T|HEPH_uc011mpa.1_Missense_Mutation_p.I740T|HEPH_uc010nks.2_Missense_Mutation_p.I29T	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	737	Extracellular (Potential).|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						ATCTACTATATCATGGCAGAA	0.522													C	65423338	T	C	65423338	3	2	88	1	0	0	0	0	1	0	0	0	7054	1435	50	3	2422	3	HEPH	23	65423338	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	2010690	65423338	89847222	1003	58425											
MED12	9968	broad.mit.edu	37	chrX	70356310	70356310	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgaggccccggccccgCgcctattacctggagccact	10	19	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:70356310C>T	uc004dyy.2	+	37	5404	c.5205C>T	c.(5203-5205)CGC>CGT	p.R1735R	MED12_uc011mpq.1_Silent_p.R1735R|MED12_uc004dyz.2_Silent_p.R1735R|MED12_uc004dza.2_Silent_p.R1582R|MED12_uc010nla.2_Silent_p.R361R	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1735	Pro-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					CCCGGCCCCGCGCCTATTACC	0.642													T	70356310	C	T	70356310	2	4	88	1	0	0	0	0	0	0	0	1	9428	755	27	1		1	MED12	23	70356310	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	4932972	70356310	84914250	1004	58426											
NLGN3	54413	broad.mit.edu	37	chrX	70367958	70367958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcccgaagtcatgctgcCggtctggttcactgccaact	11	13	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:70367958C>T	uc004dzd.1	+	1	559	c.359C>T	c.(358-360)CCG>CTG	p.P120L	NLGN3_uc010nlb.1_Missense_Mutation_p.P120L|NLGN3_uc004dzb.2_Missense_Mutation_p.P120L|NLGN3_uc004dzc.2_Missense_Mutation_p.P3L|NLGN3_uc011mps.1_Missense_Mutation_p.P120L|NLGN3_uc011mpr.1_Missense_Mutation_p.P120L	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	120	Extracellular (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)					GTCATGCTGCCGGTCTGGTTC	0.582													T	70367958	C	T	70367958	3	4	88	1	0	0	0	0	1	0	0	0	10463	652	23	1	361	1	NLGN3	23	70367958	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	11648	70367958	84902602	1005	58427											
LPAR4	2846	broad.mit.edu	37	chrX	78010799	78010799	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggccattgtctatccttttCgatctcgtactattaggact	7	10	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:78010799C>T	uc010nme.2	+	2	838	c.433C>T	c.(433-435)CGA>TGA	p.R145*		NM_005296	NP_005287	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	145	Cytoplasmic (Potential).					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			ovary(3)	3						CTATCCTTTTCGATCTCGTAC	0.463													T	78010799	C	T	78010799	4	4	88	1	0	0	0	0	0	1	0	0	8907	876	31	1	435	1	LPAR4	23	78010799	Nonsense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	7642841	78010799	77259761	1006	58428											
CYLC1	1538	broad.mit.edu	37	chrX	83128372	83128372	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attcctacatacaaagaacaAtccaaagaaagatttgaaga	5	7	0	5			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:83128372A>C	uc004eei.1	+	4	677	c.656A>C	c.(655-657)AAT>ACT	p.N219T	CYLC1_uc004eeh.1_Missense_Mutation_p.N218T	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	219					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						ACAAAGAACAATCCAAAGAAA	0.313													C	83128372	A	C	83128372	3	2	88	1	0	0	0	0	1	0	0	0	4141	101	4	5	670	5	CYLC1	23	83128372	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	5117573	83128372	72142188	1007	58429											
DACH2	117154	broad.mit.edu	37	chrX	85404095	85404095	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttcgaaactttgttcacCgattgcaccaatgccaggtg	9	11	1	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:85404095C>T	uc004eew.2	+	1	641	c.471C>T	c.(469-471)ACC>ACT	p.T157T	DACH2_uc004eex.2_Silent_p.T157T|DACH2_uc010nmq.2_5'UTR	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						CTTTGTTCACCGATTGCACCA	0.562													T	85404095	C	T	85404095	2	4	88	1	0	0	0	0	0	0	0	1	4221	639	23	1		1	DACH2	23	85404095	Silent	SNP	C	TCGA-BR-8382-01A-11D-2394-08	2275723	85404095	69866465	1008	58430											
XKRX	402415	broad.mit.edu	37	chrX	100183284	100183284	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcaggaatttcataaaCtctgtccattgtcgaggttc	7	11	3	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:100183284C>G	uc004egn.2	-	1	615	c.10G>C	c.(10-12)GTT>CTT	p.V4L	XKRX_uc011mre.1_5'UTR	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	4						integral to membrane|plasma membrane				breast(1)	1						ATTTCATAAACTCTGTCCATT	0.483													G	100183284	C	G	100183284	3	3	88	1	0	0	0	0	1	0	0	0	17436	565	20	5	1351	5	XKRX	23	100183284	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	14779189	100183284	55087276	1009	58431											
TAF7L	54457	broad.mit.edu	37	chrX	100538467	100538467	+	Frame_Shift_Del	DEL	T	T	-													gtctgctgttttataaaaggTttttttatcaagcgttctca							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:100538466_100538466GT>G	uc004ehb.3	-	3	535	c.509_509AC>C	c.(508-510)accfs	p.T170fs	TAF7L_uc004eha.3_Frame_Shift_Del_p.T84fs|TAF7L_uc004ehc.2_Frame_Shift_Del_p.T84fs	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	170					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTTATAAAAGGTTTTTTTATC	0.393													-	100538467	T	-	100538467	7	5	88	1	0	1	0	1	0	0	0	0	15530	1725	60	0	920	0	TAF7L	23	100538467	Frame_Shift_Del	DEL	T	TCGA-BR-8382-01A-11D-2394-08	355183	100538467	54732093	1010	58432											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104984565	104984565	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagagcatcttggagaaaAagaagttgaattggcactca	10	6	2	4			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:104984565A>C	uc004elz.1	+	8	1685	c.929A>C	c.(928-930)AAA>ACA	p.K310T		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	310	Ig-like C2-type 3.|Extracellular (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						CTTGGAGAAAAAGAAGTTGAA	0.443													C	104984565	A	C	104984565	3	2	88	1	0	0	0	0	1	0	0	0	7662	14	1	5	955	5	IL1RAPL2	23	104984565	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	4446098	104984565	50285995	1011	58433											
IRS4	8471	broad.mit.edu	37	chrX	107976159	107976159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccggggctgcggcgagcGcggaggccgcagctacaact	17	14	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:107976159G>A	uc004eoc.2	-	1	3449	c.3416C>T	c.(3415-3417)GCG>GTG	p.A1139V		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	1139	Ala-rich.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						TGCGGCGAGCGCGGAGGCCGC	0.652													A	107976159	G	A	107976159	3	1	88	1	0	0	0	0	1	0	0	0	7842	1087	38	1	361	1	IRS4	23	107976159	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	2991594	107976159	47294401	1012	58434											
ZCCHC12	170261	broad.mit.edu	37	chrX	117960136	117960137	+	Frame_Shift_Ins	INS	-	-	C													gaagtgctggtcattgattcINScccccacaattccagggctc							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:117960135_117960136T>TC	uc004equ.3	+	3	1401_1402	c.928_929T>TC	c.(928-930)tccfs	p.S310fs	ZCCHC12_uc022cdh.1_Frame_Shift_Ins_p.S310fs	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.S310S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGTCATTGATTCCCCCCACAAT	0.564													C	117960137	-	C	117960136	7	5	88	1	0	1	1	0	0	0	0	0	17578	855	30	0	931	0	ZCCHC12	23	117960136	Frame_Shift_Ins	INS	-	TCGA-BR-8382-01A-11D-2394-08	9983977	117960136	37310424	1013	58435											
KIAA1210	57481	broad.mit.edu	37	chrX	118223525	118223525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcactggattgtttaagGcttcttcctttgaattcaca	6	10	3	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:118223525G>A	uc004era.3	-	11	1668	c.1668C>T	c.(1666-1668)AGC>AGT	p.S556S		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	556										ovary(4)|skin(1)	5						ATTGTTTAAGGCTTCTTCCTT	0.478													A	118223525	G	A	118223525	2	1	88	1	0	0	0	0	0	0	0	1	8214	1194	42	2		2	KIAA1210	23	118223525	Silent	SNP	G	TCGA-BR-8382-01A-11D-2394-08	263389	118223525	37047035	1014	58436											
AKAP14	158798	broad.mit.edu	37	chrX	119053878	119053878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttctcttttttaggatgCacccattgttgtttcttatg	6	9	2	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:119053878C>T	uc004ese.2	+	6	584	c.446C>T	c.(445-447)GCA>GTA	p.A149V	AKAP14_uc004esf.2_Missense_Mutation_p.A89V	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14 isoform a	149						cytoplasm					0						TTTTAGGATGCACCCATTGTT	0.318													T	119053878	C	T	119053878	3	4	88	1	0	0	0	0	1	0	0	0	450	710	25	2	469	2	AKAP14	23	119053878	Missense_Mutation	SNP	C	TCGA-BR-8382-01A-11D-2394-08	830353	119053878	36216682	1015	58437											
ODZ1	10178	broad.mit.edu	37	chrX	123556188	123556188	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggggcaccagcgatgatgtAgatctccccattggtggtta	14	9	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:123556188A>G	uc004euj.2	-	23	4448	c.4384T>C	c.(4384-4386)TAC>CAC	p.Y1462H	ODZ1_uc011muj.1_Missense_Mutation_p.Y1468H|ODZ1_uc010nqy.2_Missense_Mutation_p.Y1469H	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1462	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						GCGATGATGTAGATCTCCCCA	0.493													G	123556188	A	G	123556188	3	3	88	1	0	0	0	0	1	0	0	0	10834	420	15	3	3829	3	ODZ1	23	123556188	Missense_Mutation	SNP	A	TCGA-BR-8382-01A-11D-2394-08	4502310	123556188	31714372	1016	58438											
MBNL3	55796	broad.mit.edu	37	chrX	131524939	131524939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtctggcttgcaagtgtGcaggaggatgaaagtacttg	15	5	1	2			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:131524939G>A	uc004ewv.3	-	4	786	c.707C>T	c.(706-708)GCA>GTA	p.A236V	uc004ewr.1_Intron|MBNL3_uc004eww.2_Missense_Mutation_p.A140V|MBNL3_uc004ews.2_Missense_Mutation_p.A140V|MBNL3_uc004ewt.2_Missense_Mutation_p.A186V|MBNL3_uc011muz.1_Missense_Mutation_p.A140V|MBNL3_uc004ewu.3_Missense_Mutation_p.A236V|MBNL3_uc004ewx.1_Missense_Mutation_p.A186V	NM_018388	NP_060858	Q9NUK0	MBNL3_HUMAN	muscleblind-like 3 isoform G	236	C3H1-type 4.				mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)					TTGCAAGTGTGCAGGAGGATG	0.483													A	131524939	G	A	131524939	3	1	88	1	0	0	0	0	1	0	0	0	9355	1319	46	2	438	2	MBNL3	23	131524939	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	7968751	131524939	23745621	1017	58439											
ATP2B3	492	broad.mit.edu	37	chrX	152818528	152818528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacagcaatggcgaactccGgggctttcggcctcgggacc	14	13	0	0			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:152818528G>A	uc004fht.1	+	11	1985	c.1859G>A	c.(1858-1860)CGG>CAG	p.R620Q	ATP2B3_uc004fhs.1_Missense_Mutation_p.R620Q	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	620	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGAACTCCGGGGCTTTCGG	0.597													A	152818528	G	A	152818528	3	1	88	1	0	0	0	0	1	0	0	0	1141	1116	39	1	1901	1	ATP2B3	23	152818528	Missense_Mutation	SNP	G	TCGA-BR-8382-01A-11D-2394-08	21293589	152818528	2452032	1018	58440											
IRAK1	3654	broad.mit.edu	37	chrX	153281967	153281967	+	Frame_Shift_Del	DEL	C	C	-													cgggcaggtaggccagggtgCcccgcactgtctgtgtccgg							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:153281966_153281966GC>G	uc004fjs.1	-	8	1237	c.1158_1158GC>C	c.(1156-1158)ggcfs	p.G386fs	IRAK1_uc004fjr.1_Frame_Shift_Del_p.G386fs|IRAK1_uc004fjt.1_Frame_Shift_Del_p.G386fs|IRAK1_uc004fju.2_Frame_Shift_Del_p.G412fs	NM_001569	NP_001560	P51617	IRAK1_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 1 (IRAK1), transcript variant 1, mRNA.	386	Protein kinase.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|lipopolysaccharide-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGCCAGGGTGCCCCGCACTG	0.657													-	153281967	C	-	153281967	7	5	88	1	0	1	0	1	0	0	0	0	7821	739	26	0	1005	0	IRAK1	23	153281967	Frame_Shift_Del	DEL	C	TCGA-BR-8382-01A-11D-2394-08	463439	153281967	1988593	1019	58441											
DKC1	1736	broad.mit.edu	37	chrX	153995316	153995316	+	Frame_Shift_Del	DEL	G	G	-													ggctgcacaatgctattgaaGgggggacccagctttctagg							TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:153995315_153995315AG>A	uc004fmm.3	+	5	702	c.492_492AG>A	c.(490-492)gaafs	p.E164fs	DKC1_uc010nvf.3_Frame_Shift_Del_p.E164fs|SNORA36A_uc004fmn.3_5'Flank	NM_001363	NP_001354	O60832	DKC1_HUMAN	Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.	164					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	RNA binding|protein binding|pseudouridine synthase activity|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATGCTATTGAAGGGGGGACCC	0.473									Congenital Dyskeratosis				-	153995316	G	-	153995316	7	5	88	1	0	1	0	1	0	0	0	0	4542	1000	35	0	515	0	DKC1	23	153995316	Frame_Shift_Del	DEL	G	TCGA-BR-8382-01A-11D-2394-08	713349	153995316	1275244	1020	58442											
F8	2157	broad.mit.edu	37	chrX	154091411	154091411	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtgctgcgaatgctataaTgagttgggtgcaaacggatg	15	5	0	1			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:154091411T>C	uc004fmt.2	-	23	6692	c.6521A>G	c.(6520-6522)CAT>CGT	p.H2174R	F8_uc004fms.2_Missense_Mutation_p.H39R	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	2174	F5/8 type C 1.		H -> D (in HEMA).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AATGCTATAATGAGTTGGGTG	0.418													C	154091411	T	C	154091411	3	2	88	1	0	0	0	0	1	0	0	0	5350	1464	51	3	550	3	F8	23	154091411	Missense_Mutation	SNP	T	TCGA-BR-8382-01A-11D-2394-08	96095	154091411	1179149	1021	58443											
CHD5	26038	broad.mit.edu	37	chr1	6209393	6209393	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggccctcgggcaggtgtcGcacaggatgatctccccacc	12	15	1	1	rs147670357		TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr1:6209393G>A	uc001amb.1	-	8	1174	c.1074C>T	c.(1072-1074)TGC>TGT	p.C358C	CHD5_uc001amc.1_5'Flank	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	358	PHD-type 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGCAGGTGTCGCACAGGATGA	0.602													A	6209393	G	A	6209393	2	1	89	1	0	0	0	0	0	0	0	1	3328	1079	38	1		1	CHD5	1	6209393	Silent	SNP	G	TCGA-BR-8384-01A-21D-2394-08		6209393	243041228	1	58444											
ASTN1	460	broad.mit.edu	37	chr1	176838101	176838101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaggagggtgttgtaggCggtctgctgctccttcccac	13	12	1	0			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr1:176838101C>T	uc001glc.2	-	22	3738	c.3526G>A	c.(3526-3528)GCC>ACC	p.A1176T	ASTN1_uc001glb.1_Missense_Mutation_p.A1176T|ASTN1_uc001gld.1_Missense_Mutation_p.A1176T	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	1184					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						GTGTTGTAGGCGGTCTGCTGC	0.468													T	176838101	C	T	176838101	3	4	89	1	0	0	0	0	1	0	0	0	1064	768	27	1	370	1	ASTN1	1	176838101	Missense_Mutation	SNP	C	TCGA-BR-8384-01A-21D-2394-08	170628708	176838101	72412520	2	58445											
SIPA1L2	57568	broad.mit.edu	37	chr1	232551275	232551275	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcatccacgaggtgggtcCaatctaaccctgtggctgtg	12	12	1	0			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr1:232551275C>A	uc001hvg.2	-	17	4885	c.4727G>T	c.(4726-4728)TGG>TTG	p.W1576L	SIPA1L2_uc001hvf.2_Missense_Mutation_p.W650L	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1576					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAGGTGGGTCCAATCTAACCC	0.572													A	232551275	C	A	232551275	3	1	89	1	0	0	0	0	1	0	0	0	14330	595	21	5	461	5	SIPA1L2	1	232551275	Missense_Mutation	SNP	C	TCGA-BR-8384-01A-21D-2394-08	55713174	232551275	16699346	3	58446											
RGS7	6000	broad.mit.edu	37	chr1	240975337	240975337	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaccctctgctggctcggTtctttgctatagaagataaa	8	9	2	2			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr1:240975337T>G	uc001hyv.2	-	14	1293	c.963A>C	c.(961-963)GAA>GAC	p.E321D	RGS7_uc010pyh.1_Missense_Mutation_p.E295D|RGS7_uc010pyj.1_Missense_Mutation_p.E237D|RGS7_uc001hyu.2_Missense_Mutation_p.E321D|RGS7_uc009xgn.1_Missense_Mutation_p.E268D|RGS7_uc001hyw.2_Missense_Mutation_p.E321D|RGS7_uc001hyt.2_Missense_Mutation_p.E153D	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	321					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GCTGGCTCGGTTCTTTGCTAT	0.398													G	240975337	T	G	240975337	3	3	89	1	0	0	0	0	1	0	0	0	13310	1722	60	5	520	5	RGS7	1	240975337	Missense_Mutation	SNP	T	TCGA-BR-8384-01A-21D-2394-08	8424062	240975337	8275284	4	58447											
OR2M5	127059	broad.mit.edu	37	chr1	248308867	248308867	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaatctcatgagacccaaaAtttgtggacttatgactgcc	7	11	1	2			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr1:248308867A>G	uc010pze.1	+	1	418	c.418A>G	c.(418-420)ATT>GTT	p.I140V		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	140	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GAGACCCAAAATTTGTGGACT	0.468													G	248308867	A	G	248308867	3	3	89	1	0	0	0	0	1	0	0	0	11013	101	4	3	420	3	OR2M5	1	248308867	Missense_Mutation	SNP	A	TCGA-BR-8384-01A-21D-2394-08	7333530	248308867	941754	5	58448											
PXDN	7837	broad.mit.edu	37	chr2	1677547	1677547	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggtcccatcgtccagcaAgtttaggcgggaatctgtct	12	11	2	0			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr2:1677547A>C	uc002qxa.2	-	9	950	c.886T>G	c.(886-888)TTG>GTG	p.L296V	PXDN_uc002qxb.1_Missense_Mutation_p.L296V|PXDN_uc002qxc.1_Missense_Mutation_p.L113V	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	296	Ig-like C2-type 1.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCGTCCAGCAAGTTTAGGCGG	0.502													C	1677547	A	C	1677547	3	2	89	1	0	0	0	0	1	0	0	0	12847	69	3	5	3613	5	PXDN	2	1677547	Missense_Mutation	SNP	A	TCGA-BR-8384-01A-21D-2394-08		1677547	241521826	6	58449											
KCNIP3	30818	broad.mit.edu	37	chr2	96040939	96040939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgatgcggacgggaacGgggccatccactttgaggta	14	10	0	2			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr2:96040939G>A	uc002sup.2	+	5	545	c.430G>A	c.(430-432)GGG>AGG	p.G144R	KCNIP3_uc002suq.2_Missense_Mutation_p.G118R	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3 isoform 1	144	EF-hand 2.				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			breast(2)|ovary(1)	3				READ - Rectum adenocarcinoma(193;0.13)		GGACGGGAACGGGGCCATCCA	0.622													A	96040939	G	A	96040939	3	1	89	1	0	0	0	0	1	0	0	0	8041	1116	39	1	555	1	KCNIP3	2	96040939	Missense_Mutation	SNP	G	TCGA-BR-8384-01A-21D-2394-08	94363392	96040939	147158434	7	58450											
HOXD3	3232	broad.mit.edu	37	chr2	177036736	177036736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggcgagcaacggcggcGgcttcgccagcgccaacttg	14	15	0	0			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr2:177036736G>A	uc002ukt.1	+	3	1209	c.1033G>A	c.(1033-1035)GGC>AGC	p.G345S		NM_006898	NP_008829	P31249	HXD3_HUMAN	homeobox D3	345					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CAACGGCGGCGGCTTCGCCAG	0.697													A	177036736	G	A	177036736	3	1	89	1	0	0	0	0	1	0	0	0	7323	1116	39	1	1039	1	HOXD3	2	177036736	Missense_Mutation	SNP	G	TCGA-BR-8384-01A-21D-2394-08	80995797	177036736	66162637	8	58451											
TTN	7273	broad.mit.edu	37	chr2	179640792	179640792	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaaggacagacctaaaatcTtccctctgttgaatctcaag	6	11	3	2			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr2:179640792T>G	uc010zfg.1	-	28	6023	c.5799A>C	c.(5797-5799)GAA>GAC	p.E1933D	TTN_uc010zfh.1_Missense_Mutation_p.E1887D|TTN_uc010zfi.1_Missense_Mutation_p.E1887D|TTN_uc010zfj.1_Missense_Mutation_p.E1887D|TTN_uc002unb.2_Missense_Mutation_p.E1933D|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1933							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTAAAATCTTCCCTCTGTT	0.443													G	179640792	T	G	179640792	3	3	89	1	0	0	0	0	1	0	0	0	16732	1606	56	5	105529	5	TTN	2	179640792	Missense_Mutation	SNP	T	TCGA-BR-8384-01A-21D-2394-08	2604056	179640792	63558581	9	58452											
OBSL1	23363	broad.mit.edu	37	chr2	220432469	220432469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagaagcgtagtggtacggGagttgcccaggctaaaggtg	17	6	0	1			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr2:220432469G>A	uc010fwk.2	-	3	1562	c.1505C>T	c.(1504-1506)TCC>TTC	p.S502F	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.S502F|OBSL1_uc002vmj.2_Missense_Mutation_p.S89F	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	502					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AGTGGTACGGGAGTTGCCCAG	0.622													A	220432469	G	A	220432469	3	1	89	1	0	0	0	0	1	0	0	0	10813	1174	41	4	4413	4	OBSL1	2	220432469	Missense_Mutation	SNP	G	TCGA-BR-8384-01A-21D-2394-08	40791677	220432469	22766904	10	58453											
OR5K1	26339	broad.mit.edu	37	chr3	98188977	98188977	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgatattcttcccttgtataGactctcttgtgttgatcctt	6	9	2	3			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr3:98188977G>A	uc003dsm.2	+	1	557	c.557G>A	c.(556-558)AGA>AAA	p.R186K		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K,	186	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1						CCCTTGTATAGACTCTCTTGT	0.363													A	98188977	G	A	98188977	3	1	89	1	0	0	0	0	1	0	0	0	11166	942	33	4	559	4	OR5K1	3	98188977	Missense_Mutation	SNP	G	TCGA-BR-8384-01A-21D-2394-08		98188977	99833453	11	58454											
DHX36	170506	broad.mit.edu	37	chr3	154010343	154010343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagagttcccaccttaccttCcagctcgaccttttctctgt	5	16	1	1			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr3:154010343C>T	uc003ezy.3	-	15	1892	c.1811G>A	c.(1810-1812)GGA>GAA	p.G604E	DHX36_uc010hvq.2_Missense_Mutation_p.G590E|DHX36_uc003ezz.3_Missense_Mutation_p.G604E	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	604	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ACCTTACCTTCCAGCTCGACC	0.348													T	154010343	C	T	154010343	3	4	89	1	0	0	0	0	1	0	0	0	4509	855	30	4	1259	4	DHX36	3	154010343	Missense_Mutation	SNP	C	TCGA-BR-8384-01A-21D-2394-08	55821366	154010343	44012087	12	58455											
FNDC3B	64778	broad.mit.edu	37	chr3	172055153	172055153	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caatggtggttcagaaatccTcaagtacttgctagagatta	9	7	2	2			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr3:172055153T>G	uc003fhy.2	+	16	1986	c.1814T>G	c.(1813-1815)CTC>CGC	p.L605R	FNDC3B_uc003fhz.3_Missense_Mutation_p.L605R|FNDC3B_uc003fia.2_Missense_Mutation_p.L536R	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	605	Fibronectin type-III 4.					endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TCAGAAATCCTCAAGTACTTG	0.328													G	172055153	T	G	172055153	3	3	89	1	0	0	0	0	1	0	0	0	5970	1551	54	5	1872	5	FNDC3B	3	172055153	Missense_Mutation	SNP	T	TCGA-BR-8384-01A-21D-2394-08	18044810	172055153	25967277	13	58456											
WHSC1	7468	broad.mit.edu	37	chr4	1978261	1978261	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaagaagaaaacgaggcgGcgcagagcaaaaggggaagg	16	7	0	3			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr4:1978261G>A	uc003gdz.3	+	21	3857	c.3681G>A	c.(3679-3681)CGG>CGA	p.R1227R	WHSC1_uc003geb.3_Silent_p.R1227R|WHSC1_uc003gec.3_Silent_p.R1227R|WHSC1_uc003ged.3_Silent_p.R1227R|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Silent_p.R446R|WHSC1_uc011bvh.1_Silent_p.R288R|WHSC1_uc010icf.2_Silent_p.R575R	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	1227					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AAACGAGGCGGCGCAGAGCAA	0.537			T	IGH@	MM								A	1978261	G	A	1978261	2	1	89	1	0	0	0	0	0	0	0	1	17359	1190	42	2		2	WHSC1	4	1978261	Silent	SNP	G	TCGA-BR-8384-01A-21D-2394-08		1978261	189176015	14	58457											
LATS1	9113	broad.mit.edu	37	chr6	150001244	150001244	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ataggctcatcatatcacccCcaggaatgtagtccattaca	6	12	3	0			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr6:150001244C>G	uc003qmu.1	-	5	2908	c.2360G>C	c.(2359-2361)GGG>GCG	p.G787A	LATS1_uc010kif.1_Missense_Mutation_p.G682A|LATS1_uc003qmv.1_Missense_Mutation_p.G787A	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	787	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CATATCACCCCCAGGAATGTA	0.388													G	150001244	C	G	150001244	3	3	89	1	0	0	0	0	1	0	0	0	8646	623	22	5	1048	5	LATS1	6	150001244	Missense_Mutation	SNP	C	TCGA-BR-8384-01A-21D-2394-08		150001244	21113823	15	58458											
CHRM2	1129	broad.mit.edu	37	chr7	136701002	136701002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcattataagaacataggcGctacaaggtaaaatatcttt	7	6	2	1			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr7:136701002G>A	uc003vtf.1	+	4	2013	c.1390G>A	c.(1390-1392)GCT>ACT	p.A464T	CHRM2_uc003vtg.1_Missense_Mutation_p.A464T|CHRM2_uc003vtj.1_Missense_Mutation_p.A464T|CHRM2_uc003vtk.1_Missense_Mutation_p.A464T|CHRM2_uc003vtl.1_Missense_Mutation_p.A464T|CHRM2_uc003vtm.1_Missense_Mutation_p.A464T|CHRM2_uc003vti.1_Missense_Mutation_p.A464T|CHRM2_uc003vto.1_Missense_Mutation_p.A464T|CHRM2_uc003vtn.1_Missense_Mutation_p.A464T|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	464	Cytoplasmic (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GAACATAGGCGCTACAAGGTA	0.408													A	136701002	G	A	136701002	3	1	89	1	0	0	0	0	1	0	0	0	3377	1087	38	1	1392	1	CHRM2	7	136701002	Missense_Mutation	SNP	G	TCGA-BR-8384-01A-21D-2394-08		136701002	22437661	16	58459											
RP1L1	94137	broad.mit.edu	37	chr8	10467031	10467031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccaggaaggccttctccGtcttcttcagtaacacggac	11	13	4	0			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr8:10467031G>A	uc003wtc.2	-	4	4806	c.4577C>T	c.(4576-4578)ACG>ATG	p.T1526M		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1526					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GGCCTTCTCCGTCTTCTTCAG	0.662													A	10467031	G	A	10467031	3	1	89	1	0	0	0	0	1	0	0	0	13533	1145	40	1	2629	1	RP1L1	8	10467031	Missense_Mutation	SNP	G	TCGA-BR-8384-01A-21D-2394-08		10467031	135896991	17	58460											
PSD3	23362	broad.mit.edu	37	chr8	18725257	18725257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcattcagcccattggtgaCgccactagaatagcccatca	7	13	3	2			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr8:18725257C>T	uc003wza.2	-	4	1664	c.1561G>A	c.(1561-1563)GTC>ATC	p.V521I		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	521					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CCATTGGTGACGCCACTAGAA	0.522													T	18725257	C	T	18725257	3	4	89	1	0	0	0	0	1	0	0	0	12648	536	19	1	1670	1	PSD3	8	18725257	Missense_Mutation	SNP	C	TCGA-BR-8384-01A-21D-2394-08	8258226	18725257	127638765	18	58461											
UNC5D	137970	broad.mit.edu	37	chr8	35542177	35542177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggatggcagaaacgttccCggacctgcaccaacccagct	11	14	0	1			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr8:35542177C>T	uc003xjr.1	+	6	1157	c.829C>T	c.(829-831)CGG>TGG	p.R277W	UNC5D_uc003xjs.1_Missense_Mutation_p.R272W|UNC5D_uc003xjt.1_Missense_Mutation_p.R46W	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	277	TSP type-1 1.|Extracellular (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GAAACGTTCCCGGACCTGCAC	0.522													T	35542177	C	T	35542177	3	4	89	1	0	0	0	0	1	0	0	0	16992	643	23	1	851	1	UNC5D	8	35542177	Missense_Mutation	SNP	C	TCGA-BR-8384-01A-21D-2394-08	16816920	35542177	110821845	19	58462											
CSMD3	114788	broad.mit.edu	37	chr8	113960100	113960100	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagctgttttaatacctcccTcatttactgcaacagcaggg	7	11	1	0			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr8:113960100T>A	uc003ynu.2	-	9	1586	c.1427A>T	c.(1426-1428)GAG>GTG	p.E476V	CSMD3_uc003ynt.2_Missense_Mutation_p.E436V|CSMD3_uc011lhx.1_Missense_Mutation_p.E372V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	476	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AATACCTCCCTCATTTACTGC	0.274										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113960100	T	A	113960100	3	1	89	1	0	0	0	0	1	0	0	0	3946	1551	54	5	9948	5	CSMD3	8	113960100	Missense_Mutation	SNP	T	TCGA-BR-8384-01A-21D-2394-08	78417923	113960100	32403922	20	58463											
SEC16A	9919	broad.mit.edu	37	chr9	139368957	139368957	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgctgataaaaacggtcAaggttaggcgccccaggccc	11	13	1	1			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr9:139368957A>C	uc004chx.2	-	3	3420	c.3111T>G	c.(3109-3111)CTT>CTG	p.L1037L	SEC16A_uc004chv.3_Intron|SEC16A_uc004chw.2_Silent_p.L1037L|SEC16A_uc010nbn.2_Silent_p.L1037L|SEC16A_uc010nbo.1_Silent_p.L1037L	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	859					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AAAAACGGTCAAGGTTAGGCG	0.582													C	139368957	A	C	139368957	2	2	89	1	0	0	0	0	0	0	0	1	13986	117	5	5		5	SEC16A	9	139368957	Silent	SNP	A	TCGA-BR-8384-01A-21D-2394-08		139368957	1844474	21	58464											
PCDH15	65217	broad.mit.edu	37	chr10	55582245	55582245	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaataggaggaggagggggAaggggacaggcagaaggaga	22	2	0	2			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr10:55582245A>G	uc001jju.1	-	33	5636	c.5241T>C	c.(5239-5241)CTT>CTC	p.L1747L	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.L1744L|PCDH15_uc010qhw.1_Silent_p.L1707L|PCDH15_uc010qhx.1_Silent_p.L1678L|PCDH15_uc010qhy.1_Silent_p.L1754L|PCDH15_uc010qhz.1_Silent_p.L1749L|PCDH15_uc010qia.1_Silent_p.L1727L|PCDH15_uc010qib.1_Silent_p.L1724L	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1747	Poly-Pro.|Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				gaggagggggaaggggaCAGG	0.179										HNSCC(58;0.16)			G	55582245	A	G	55582245	2	3	89	1	0	0	0	0	0	0	0	1	11511	233	9	3		3	PCDH15	10	55582245	Silent	SNP	A	TCGA-BR-8384-01A-21D-2394-08		55582245	79952502	22	58465											
HIF1AN	55662	broad.mit.edu	37	chr10	102305759	102305759	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaaaatgtggttggttaCgaaacagtggttggccctgg	13	7	0	0			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr10:102305759C>T	uc001krj.3	+	5	858	c.783C>T	c.(781-783)TAC>TAT	p.Y261Y		NM_017902	NP_060372	Q9NWT6	HIF1N_HUMAN	hypoxia-inducible factor 1, alpha subunit	261	JmjC.|Interaction with HIF1A.|Interaction with VHL.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding				0		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		TGGTTGGTTACGAAACAGTGG	0.453													T	102305759	C	T	102305759	2	4	89	1	0	0	0	0	0	0	0	1	7104	547	19	1		1	HIF1AN	10	102305759	Silent	SNP	C	TCGA-BR-8384-01A-21D-2394-08	46723514	102305759	33228988	23	58466											
OR5AS1	219447	broad.mit.edu	37	chr11	55798495	55798495	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaaccagcttctgctctttGctttgtgcagcttcatccag	7	13	4	0			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr11:55798495G>T	uc010riw.1	+	1	601	c.601G>T	c.(601-603)GCT>TCT	p.A201S		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	201	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)|skin(1)	5	Esophageal squamous(21;0.00693)					TCTGCTCTTTGCTTTGTGCAG	0.423													T	55798495	G	T	55798495	3	4	89	1	0	0	0	0	1	0	0	0	11146	1319	46	5	603	5	OR5AS1	11	55798495	Missense_Mutation	SNP	G	TCGA-BR-8384-01A-21D-2394-08		55798495	79208021	24	58467											
CHFR	55743	broad.mit.edu	37	chr12	133435715	133435715	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagcgtctcctccatcttgtCtggcttcccagccgctgctc	8	18	3	0			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr12:133435715C>G	uc001ulf.2	-	8	970	c.886G>C	c.(886-888)GAC>CAC	p.D296H	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.D284H|CHFR_uc010tbs.1_Missense_Mutation_p.D296H|CHFR_uc001uld.2_Missense_Mutation_p.D255H|CHFR_uc010tbt.1_Missense_Mutation_p.D204H	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	296					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TCCATCTTGTCTGGCTTCCCA	0.597													G	133435715	C	G	133435715	3	3	89	1	0	0	0	0	1	0	0	0	3337	913	32	5	1152	5	CHFR	12	133435715	Missense_Mutation	SNP	C	TCGA-BR-8384-01A-21D-2394-08		133435715	416180	25	58468											
BRCA2	675	broad.mit.edu	37	chr13	32911853	32911853	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttctactatattagaagaaTcaggaagtcagtttgaattt	7	4	3	3			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr13:32911853T>A	uc001uub.1	+	11	3588	c.3361T>A	c.(3361-3363)TCA>ACA	p.S1121T		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1121					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATTAGAAGAATCAGGAAGTCA	0.338			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			A	32911853	T	A	32911853	3	1	89	1	0	0	0	0	1	0	0	0	1499	1435	50	5	3399	5	BRCA2	13	32911853	Missense_Mutation	SNP	T	TCGA-BR-8384-01A-21D-2394-08		32911853	82258025	26	58469											
BRCA2	675	broad.mit.edu	37	chr13	32911967	32911967	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taaagaccacttctgaggaaTgcagagatgctgatcttcat	9	8	3	4			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr13:32911967T>A	uc001uub.1	+	11	3702	c.3475T>A	c.(3475-3477)TGC>AGC	p.C1159S		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1159					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTCTGAGGAATGCAGAGATGC	0.388			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			A	32911967	T	A	32911967	3	1	89	1	0	0	0	0	1	0	0	0	1499	1464	51	5	3513	5	BRCA2	13	32911967	Missense_Mutation	SNP	T	TCGA-BR-8384-01A-21D-2394-08	114	32911967	82257911	27	58470											
OCA2	4948	broad.mit.edu	37	chr15	28228574	28228574	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctcctccaatgtttgtgaAgatcacttctgcaatcagga	8	10	3	2			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr15:28228574A>C	uc001zbh.3	-	14	1530	c.1420T>G	c.(1420-1422)TTC>GTC	p.F474V	OCA2_uc010ayv.2_Missense_Mutation_p.F450V	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	474	Extracellular (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		ATGTTTGTGAAGATCACTTCT	0.468									Oculocutaneous_Albinism				C	28228574	A	C	28228574	3	2	89	1	0	0	0	0	1	0	0	0	10815	72	3	5	1140	5	OCA2	15	28228574	Missense_Mutation	SNP	A	TCGA-BR-8384-01A-21D-2394-08		28228574	74302818	28	58471											
TMEM85	51234	broad.mit.edu	37	chr15	34517759	34517759	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcgaagtgaccggggcagtGgccagggagactcgctctac	16	11	1	2			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr15:34517759G>T	uc001zhq.2	+	2	180	c.109G>T	c.(109-111)GGC>TGC	p.G37C	TMEM85_uc010ucb.1_Missense_Mutation_p.G37C|TMEM85_uc001zhr.2_RNA|TMEM85_uc001zhs.2_Missense_Mutation_p.G37C|TMEM85_uc010bat.2_Intron	NM_016454	NP_057538	Q5J8M3	TMM85_HUMAN	transmembrane protein 85	37					apoptosis	integral to membrane					0		all_lung(180;1.15e-06)		all cancers(64;1.03e-17)|GBM - Glioblastoma multiforme(113;3.33e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)|Lung(196;0.217)		CCGGGGCAGTGGCCAGGGAGA	0.512													T	34517759	G	T	34517759	3	4	89	1	0	0	0	0	1	0	0	0	16204	1348	47	5	115	5	TMEM85	15	34517759	Missense_Mutation	SNP	G	TCGA-BR-8384-01A-21D-2394-08	6289185	34517759	68013633	29	58472											
ABCC12	94160	broad.mit.edu	37	chr16	48149471	48149471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggtcggagtagacagcgCgggccaggctaatcctctgc	15	12	1	1			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr16:48149471C>T	uc002efc.1	-	13	2190	c.1844G>A	c.(1843-1845)CGC>CAC	p.R615H	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	615	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				GTAGACAGCGCGGGCCAGGCT	0.632													T	48149471	C	T	48149471	3	4	89	1	0	0	0	0	1	0	0	0	52	768	27	1	2303	1	ABCC12	16	48149471	Missense_Mutation	SNP	C	TCGA-BR-8384-01A-21D-2394-08		48149471	42205282	30	58473											
CDH8	1006	broad.mit.edu	37	chr16	61687741	61687741	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgcagccttacatttataAattcatcgacatcaacacca	3	12	2	0			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr16:61687741A>C	uc002eog.1	-	12	2423	c.2171T>G	c.(2170-2172)TTT>TGT	p.F724C		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	724	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TACATTTATAAATTCATCGAC	0.453													C	61687741	A	C	61687741	3	2	89	1	0	0	0	0	1	0	0	0	3116	14	1	5	232	5	CDH8	16	61687741	Missense_Mutation	SNP	A	TCGA-BR-8384-01A-21D-2394-08	13538270	61687741	28667012	31	58474											
MYH4	4622	broad.mit.edu	37	chr17	10368833	10368833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcctggcgctttttgcctCggtaggctgtcaccacctca	9	16	2	0			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr17:10368833C>T	uc002gmn.2	-	5	542	c.431G>A	c.(430-432)CGA>CAA	p.R144Q	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	144	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						CTTTTTGCCTCGGTAGGCTGT	0.542													T	10368833	C	T	10368833	3	4	89	1	0	0	0	0	1	0	0	0	10037	884	31	1	5532	1	MYH4	17	10368833	Missense_Mutation	SNP	C	TCGA-BR-8384-01A-21D-2394-08		10368833	70826377	32	58475											
KRTAP9-9	81870	broad.mit.edu	37	chr17	39412077	39412077	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgccccgcctgctgtgagaCcacctgctgcaggaccactt	10	18	0	1			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr17:39412077C>G	uc010wfq.1	+	3	397	c.395C>G	c.(394-396)ACC>AGC	p.T132S		NM_030975	NP_112237	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	147						keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCTGTGAGACCACCTGCTGC	0.607													G	39412077	C	G	39412077	3	3	89	1	0	0	0	0	1	0	0	0	8577	507	18	5	442	5	KRTAP9-9	17	39412077	Missense_Mutation	SNP	C	TCGA-BR-8384-01A-21D-2394-08	29043244	39412077	41783133	33	58476											
CLUL1	27098	broad.mit.edu	37	chr18	644941	644941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gattcatgaaggaaatatttCcaaacaagatgaaacaatga	7	5	1	4			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr18:644941C>T	uc002kkp.2	+	8	1386	c.1241C>T	c.(1240-1242)TCC>TTC	p.S414F	CLUL1_uc010wys.1_Missense_Mutation_p.S466F|CLUL1_uc002kkq.2_Missense_Mutation_p.S414F	NM_014410	NP_055225	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal) precursor	414					cell death	extracellular region				ovary(2)	2						GGAAATATTTCCAAACAAGAT	0.348													T	644941	C	T	644941	3	4	89	1	0	0	0	0	1	0	0	0	3570	855	30	4	1267	4	CLUL1	18	644941	Missense_Mutation	SNP	C	TCGA-BR-8384-01A-21D-2394-08		644941	77432307	34	58477											
FECH	2235	broad.mit.edu	37	chr18	55247314	55247314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagactcatacctcttctgcGgttgaacttgaggttttgca	9	9	3	3	rs150830931	byFrequency	TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr18:55247314G>A	uc002lgq.3	-	2	302	c.185C>T	c.(184-186)CCG>CTG	p.P62L	FECH_uc002lgp.3_Missense_Mutation_p.P62L|FECH_uc002lgr.3_5'UTR	NM_000140	NP_000131	P22830	HEMH_HUMAN	ferrochelatase isoform b precursor	62			P -> R (in EPP).		generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)	1		Colorectal(73;0.227)				CCTCTTCTGCGGTTGAACTTG	0.522													A	55247314	G	A	55247314	3	1	89	1	0	0	0	0	1	0	0	0	5808	1116	39	1	1144	1	FECH	18	55247314	Missense_Mutation	SNP	G	TCGA-BR-8384-01A-21D-2394-08	54602373	55247314	22829934	35	58478											
ZNF99	7652	broad.mit.edu	37	chr19	22940942	22940942	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcacatttgtagggtttcTccccagtatgaattgcttta	7	9	2	1			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr19:22940942T>C	uc010xrh.1	-	5	1496	c.1496A>G	c.(1495-1497)GAG>GGG	p.E499G		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTAGGGTTTCTCCCCAGTATG	0.358													C	22940942	T	C	22940942	3	2	89	1	0	0	0	0	1	0	0	0	18201	1551	54	3	1628	3	ZNF99	19	22940942	Missense_Mutation	SNP	T	TCGA-BR-8384-01A-21D-2394-08		22940942	36188041	36	58479											
PSG2	5670	broad.mit.edu	37	chr19	43575896	43575896	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggagctttcctcgccagtgGctgagttacgaacagagcaa	12	10	0	2			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr19:43575896G>C	uc002ovr.2	-	4	1013	c.920C>G	c.(919-921)GCC>GGC	p.A307G	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.A307G|PSG2_uc010eiq.1_Missense_Mutation_p.A307G|PSG2_uc002ovs.3_Missense_Mutation_p.A307G|PSG2_uc002ovt.3_Missense_Mutation_p.A307G	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	307	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)				CTCGCCAGTGGCTGAGTTACG	0.458													C	43575896	G	C	43575896	3	2	89	1	0	0	0	0	1	0	0	0	12655	1203	42	5	95	5	PSG2	19	43575896	Missense_Mutation	SNP	G	TCGA-BR-8384-01A-21D-2394-08	20634954	43575896	15553087	37	58480											
DPRX	503834	broad.mit.edu	37	chr19	54140031	54140031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgatcggcctggtgtacaCgggtcatcgagtcccctcat	11	15	2	0			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr19:54140031C>T	uc002qcf.1	+	3	416	c.365C>T	c.(364-366)ACG>ATG	p.T122M		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	122						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CTGGTGTACACGGGTCATCGA	0.562													T	54140031	C	T	54140031	3	4	89	1	0	0	0	0	1	0	0	0	4738	536	19	1	375	1	DPRX	19	54140031	Missense_Mutation	SNP	C	TCGA-BR-8384-01A-21D-2394-08	10564135	54140031	4988952	38	58481											
ZNF274	10782	broad.mit.edu	37	chr19	58697083	58697083	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaatctggatttttaggaacCagtgacctttgaagatgtaa	10	5	1	3			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr19:58697083C>G	uc002qrq.1	+	3	497	c.38C>G	c.(37-39)CCA>CGA	p.P13R	ZNF274_uc010yhu.1_RNA|ZNF274_uc010yhv.1_Intron|ZNF274_uc002qrr.1_Missense_Mutation_p.P13R|ZNF274_uc002qrs.1_Intron|ZNF274_uc010eum.1_5'UTR	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	zinc finger protein 274 isoform c	13					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TTTTAGGAACCAGTGACCTTT	0.512													G	58697083	C	G	58697083	3	3	89	1	0	0	0	0	1	0	0	0	17806	594	21	5	44	5	ZNF274	19	58697083	Missense_Mutation	SNP	C	TCGA-BR-8384-01A-21D-2394-08	4557052	58697083	431900	39	58482											
SNPH	9751	broad.mit.edu	37	chr20	1277044	1277044	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtccctgccaggaagtagacGgacctctgctggatcacgca	12	13	2	1			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr20:1277044G>C	uc002wes.2	+	3	265	c.29G>C	c.(28-30)CGG>CCG	p.R10P	SNPH_uc002wet.2_Missense_Mutation_p.R54P	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	10					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						GGAAGTAGACGGACCTCTGCT	0.642													C	1277044	G	C	1277044	3	2	89	1	0	0	0	0	1	0	0	0	14850	1116	39	5	31	5	SNPH	20	1277044	Missense_Mutation	SNP	G	TCGA-BR-8384-01A-21D-2394-08		1277044	61748476	40	58483											
GGTLC1	92086	broad.mit.edu	37	chr20	23967072	23967072	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcggcccagcagcccctaCtagaggttgatggtgctggt	15	11	0	2			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr20:23967072C>T	uc002wts.2	-	2	309	c.176_splice	c.e2+1	p.Y59_splice	GGTLC1_uc002wtu.2_Splice_Site_p.Y59_splice	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1								gamma-glutamyltransferase activity			ovary(1)	1						GCAGCCCCTACTAGAGGTTGA	0.632													T	23967072	C	T	23967072	5	4	89	1	0	0	0	0	0	0	1	0	6365	579	20	4	520	4	GGTLC1	20	23967072	Splice_Site	SNP	C	TCGA-BR-8384-01A-21D-2394-08	22690028	23967072	39058448	41	58484											
KRTAP21-2	337978	broad.mit.edu	37	chr21	32119459	32119459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacaaccatatccacagccgGaactccagccagagccatat	6	16	0	1			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chr21:32119459G>A	uc011adh.1	-	1	62	c.62C>T	c.(61-63)TCC>TTC	p.S21F		NM_181617	NP_853648	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	21						intermediate filament					0						tccacagccggaactccagcc	0.149													A	32119459	G	A	32119459	3	1	89	1	0	0	0	0	1	0	0	0	8539	1174	41	4	191	4	KRTAP21-2	21	32119459	Missense_Mutation	SNP	G	TCGA-BR-8384-01A-21D-2394-08		32119459	16010436	42	58485											
PCDH11X	27328	broad.mit.edu	37	chrX	91134131	91134131	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgaagcaccacatcatccaAgaactgcctctcgataacac	5	15	2	1			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chrX:91134131A>C	uc004efk.1	+	2	3737	c.2892A>C	c.(2890-2892)CAA>CAC	p.Q964H	PCDH11X_uc004efl.1_Missense_Mutation_p.Q964H|PCDH11X_uc004efo.1_Missense_Mutation_p.Q964H|PCDH11X_uc010nmv.1_Missense_Mutation_p.Q964H|PCDH11X_uc004efm.1_Missense_Mutation_p.Q964H|PCDH11X_uc004efn.1_Missense_Mutation_p.Q964H|PCDH11X_uc004efh.1_Missense_Mutation_p.Q964H|PCDH11X_uc004efj.1_Missense_Mutation_p.Q964H	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	964	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						ACATCATCCAAGAACTGCCTC	0.507													C	91134131	A	C	91134131	3	2	89	1	0	0	0	0	1	0	0	0	11508	69	3	5	2898	5	PCDH11X	23	91134131	Missense_Mutation	SNP	A	TCGA-BR-8384-01A-21D-2394-08		91134131	64136429	43	58486											
NRK	203447	broad.mit.edu	37	chrX	105178264	105178264	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttaggagccaggtggtggAaatgaggcctcaaatgccat	13	7	1	1			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chrX:105178264A>G	uc004emd.2	+	20	3630	c.3327A>G	c.(3325-3327)GGA>GGG	p.G1109G	NRK_uc010npc.1_Silent_p.G777G	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1109							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						CAGGTGGTGGAAATGAGGCCT	0.418										HNSCC(51;0.14)			G	105178264	A	G	105178264	2	3	89	1	0	0	0	0	0	0	0	1	10655	233	9	3		3	NRK	23	105178264	Silent	SNP	A	TCGA-BR-8384-01A-21D-2394-08	14044133	105178264	50092296	44	58487											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299770	125299770	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcaccagcctgcgacgcgtCgccggccgcttctgcttctt	11	17	2	0			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chrX:125299770C>T	uc004euk.1	-	1	165	c.138G>A	c.(136-138)GCG>GCA	p.A46A		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	46										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						TGCGACGCGTCGCCGGCCGCT	0.741													T	125299770	C	T	125299770	2	4	89	1	0	0	0	0	0	0	0	1	4265	871	31	1		1	DCAF12L2	23	125299770	Silent	SNP	C	TCGA-BR-8384-01A-21D-2394-08	20121506	125299770	29970790	45	58488											
MAGEC1	9947	broad.mit.edu	37	chrX	140995303	140995303	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgagggagaggactccCtgtcttctctccattttcct	8	13	3	2			TCGA-BR-8384-01A-21D-2394-08	TCGA-BR-8384-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e2a6ef-86ba-44b7-8e27-caa5d939abc9	f3204691-0a34-4064-90ce-8fa32a8e43c4	g.chrX:140995303C>A	uc004fbt.2	+	4	2399	c.2113C>A	c.(2113-2115)CTG>ATG	p.L705M	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	705							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGACTCCCTGTCTTCTCT	0.562										HNSCC(15;0.026)			A	140995303	C	A	140995303	3	1	89	1	0	0	0	0	1	0	0	0	9180	680	24	5	2119	5	MAGEC1	23	140995303	Missense_Mutation	SNP	C	TCGA-BR-8384-01A-21D-2394-08	15695533	140995303	14275257	46	58489											
NPPA	4878	broad.mit.edu	37	chr1	11907324	11907324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaggagtcccaggggcccCgcccgagggcacctccatct	13	17	1	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:11907324C>T	uc001ati.2	-	2	395	c.296G>A	c.(295-297)CGG>CAG	p.R99Q	CLCN6_uc010oav.1_Intron|CLCN6_uc010oaw.1_Intron|CLCN6_uc010oax.1_Intron|CLCN6_uc010oay.1_Intron|CLCN6_uc010oaz.1_Intron|CLCN6_uc010oba.1_Intron	NM_006172	NP_006163	P01160	ANF_HUMAN	natriuretic peptide precursor A preproprotein	99					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGGGCCCCGCCCGAGGGC	0.672													T	11907324	C	T	11907324	3	4	90	1	0	0	0	0	1	0	0	0	10591	652	23	1	167	1	NPPA	1	11907324	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08		11907324	237343297	1	58490											
PADI2	11240	broad.mit.edu	37	chr1	17395663	17395663	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggtgcattcgaggcccAggggctccaggaggccacgc	16	12	0	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:17395663A>T	uc001baf.2	-	16	1956	c.1874T>A	c.(1873-1875)CTG>CAG	p.L625Q	PADI2_uc010ocm.1_Missense_Mutation_p.L509Q	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	625					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TTCGAGGCCCAGGGGCTCCAG	0.597													T	17395663	A	T	17395663	3	4	90	1	0	0	0	0	1	0	0	0	11378	188	7	5	127	5	PADI2	1	17395663	Missense_Mutation	SNP	A	TCGA-BR-8483-01A-31D-2394-08	5488339	17395663	231854958	2	58491											
ACTL8	81569	broad.mit.edu	37	chr1	18149652	18149652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagctatgcccgtaggcGtgtgagcctgggcatcgaca	13	14	0	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:18149652G>A	uc001bat.2	+	2	365	c.149G>A	c.(148-150)CGT>CAT	p.R50H		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	actin-like 8	50						cytoplasm|cytoskeleton				ovary(4)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GCCCGTAGGCGTGTGAGCCTG	0.607													A	18149652	G	A	18149652	3	1	90	1	0	0	0	0	1	0	0	0	202	1145	40	1	151	1	ACTL8	1	18149652	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	753989	18149652	231100969	3	58492											
MUL1	79594	broad.mit.edu	37	chr1	20827849	20827850	+	Frame_Shift_Ins	INS	-	-	T													ccacatccacgccatcctcgINStggggcaccaggtcaaaggg							TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:20827849_20827850insT	uc001bdi.3	-	4	549_550	c.392_393insA	c.(391-393)CACfs	p.H131fs		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	mitochondrial ubiquitin ligase activator of NFKB	131	Mitochondrial intermembrane (Potential).				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CGCCATCCTCGTGGGGCACCAG	0.5													T	20827850	-	T	20827849	7	5	90	1	0	1	1	0	0	0	0	0	9984	1136	40	0	669	0	MUL1	1	20827849	Frame_Shift_Ins	INS	-	TCGA-BR-8483-01A-31D-2394-08	2678197	20827849	228422772	4	58493	256	2									
MUL1	79594	broad.mit.edu	37	chr1	20827850	20827851	+	Frame_Shift_Ins	INS	-	-	T													cacatccacgccatcctcgtINSggggcaccaggtcaaagggc							TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:20827849_20827850G>GT	uc001bdi.4	-	3	549_550	c.392_393C>AC	c.(391-393)cacfs	p.H131fs		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	Homo sapiens mitochondrial E3 ubiquitin protein ligase 1 (MUL1), nuclear gene encoding mitochondrial protein, mRNA.	131					activation of JUN kinase activity|activation of caspase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CGCCATCCTCGTGGGGCACCAG	0.5													T	20827851	-	T	20827850	7	5	90	1	0	1	1	0	0	0	0	0	9984	1696	59	0	670	0	MUL1	1	20827850	Frame_Shift_Ins	INS	-	TCGA-BR-8483-01A-31D-2394-08	1	20827850	228422771	5	58494	256	2									
CSMD2	114784	broad.mit.edu	37	chr1	34180299	34180299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagaaggtcaaggtgtcGcccacgccaaactgcaagcc	12	13	1	1	rs143791523	byFrequency	TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:34180299G>A	uc001bxn.1	-	21	3203	c.3174C>T	c.(3172-3174)GGC>GGT	p.G1058G	CSMD2_uc001bxm.1_Silent_p.G1098G	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1058	Sushi 6.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCAAGGTGTCGCCCACGCCAA	0.662													A	34180299	G	A	34180299	2	1	90	1	0	0	0	0	0	0	0	1	3945	1074	38	1		1	CSMD2	1	34180299	Silent	SNP	G	TCGA-BR-8483-01A-31D-2394-08	13352449	34180299	215070322	6	58495											
SGIP1	84251	broad.mit.edu	37	chr1	67147694	67147694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccatttttctgatacatcCccggaacatgttactccgga	7	12	1	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:67147694C>T	uc001dcr.2	+	15	1174	c.957C>T	c.(955-957)TCC>TCT	p.S319S	SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Silent_p.S86S	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	319	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						CTGATACATCCCCGGAACATG	0.512													T	67147694	C	T	67147694	2	4	90	1	0	0	0	0	0	0	0	1	14206	610	22	4		4	SGIP1	1	67147694	Silent	SNP	C	TCGA-BR-8483-01A-31D-2394-08	32967395	67147694	182102927	7	58496											
SGIP1	84251	broad.mit.edu	37	chr1	67148039	67148039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggctcgggccctggtccGgggaccaccagtggtatgtc	15	14	0	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:67148039G>A	uc001dcr.2	+	15	1519	c.1302G>A	c.(1300-1302)CCG>CCA	p.P434P	SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Silent_p.P201P	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	434	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						GCCCTGGTCCGGGGACCACCA	0.602													A	67148039	G	A	67148039	2	1	90	1	0	0	0	0	0	0	0	1	14206	1103	39	1		1	SGIP1	1	67148039	Silent	SNP	G	TCGA-BR-8483-01A-31D-2394-08	345	67148039	182102582	8	58497											
RPAP2	79871	broad.mit.edu	37	chr1	92811435	92811435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatattatacacaaacctgCggaatggactttaattgcta	6	7	0	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:92811435C>T	uc001dot.2	+	11	1761	c.1652C>T	c.(1651-1653)GCG>GTG	p.A551V	RPAP2_uc009wdh.2_RNA	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	551	Helical; (Potential).					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		CACAAACCTGCGGAATGGACT	0.294													T	92811435	C	T	92811435	3	4	90	1	0	0	0	0	1	0	0	0	13542	768	27	1	1694	1	RPAP2	1	92811435	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	25663396	92811435	156439186	9	58498											
SASS6	163786	broad.mit.edu	37	chr1	100573401	100573401	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtatcaaatgcctcttttgTtcttaaaacaagctggtcct	6	9	3	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:100573401T>C	uc001dsu.2	-	9	1162	c.1021A>G	c.(1021-1023)ACA>GCA	p.T341A	SASS6_uc009wdz.2_Missense_Mutation_p.T174A	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	spindle assembly abnormal protein 6	341	Potential.				centriole replication	centriole				upper_aerodigestive_tract(1)|ovary(1)	2		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		GCCTCTTTTGTTCTTAAAACA	0.328													C	100573401	T	C	100573401	3	2	90	1	0	0	0	0	1	0	0	0	13850	1725	60	3	988	3	SASS6	1	100573401	Missense_Mutation	SNP	T	TCGA-BR-8483-01A-31D-2394-08	7761966	100573401	148677220	10	58499											
ASH1L	55870	broad.mit.edu	37	chr1	155448532	155448532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accataagatggatagaatcCagtactagaaagaggaaaac	9	6	0	4			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:155448532C>T	uc009wqq.2	-	3	4609	c.4129G>A	c.(4129-4131)GGA>AGA	p.G1377R	ASH1L_uc001fkt.2_Missense_Mutation_p.G1377R|ASH1L_uc009wqr.1_Missense_Mutation_p.G1377R	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1377					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGATAGAATCCAGTACTAGAA	0.443													T	155448532	C	T	155448532	3	4	90	1	0	0	0	0	1	0	0	0	1041	603	21	4	4869	4	ASH1L	1	155448532	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	54875131	155448532	93802089	11	58500											
LRRC52	440699	broad.mit.edu	37	chr1	165513566	165513566	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggccctggccctgggtgGttactcttttcctttggaat	11	11	2	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:165513566G>A	uc001gde.2	+	1	89	c.33G>A	c.(31-33)TGG>TGA	p.W11*	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	11						integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GCCCTGGGTGGTTACTCTTTT	0.522													A	165513566	G	A	165513566	4	1	90	1	0	0	0	0	0	1	0	0	9010	1270	44	4	35	4	LRRC52	1	165513566	Nonsense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	10065034	165513566	83737055	12	58501											
NPL	80896	broad.mit.edu	37	chr1	182798028	182798028	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatttaaaggatggaaacttGgaagctggtagctagtgcct	13	5	0	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:182798028G>T	uc009wyb.2	+	13	1088	c.948G>T	c.(946-948)TTG>TTT	p.L316F	NPL_uc010pny.1_RNA|NPL_uc001gpo.1_Missense_Mutation_p.L297F|NPL_uc009wyc.2_Intron|NPL_uc001gpp.3_Intron|NPL_uc001gpq.1_Missense_Mutation_p.L316F	NM_030769	NP_110396	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase	316					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			ovary(1)|central_nervous_system(1)|skin(1)	3						ATGGAAACTTGGAAGCTGGTA	0.403													T	182798028	G	T	182798028	3	4	90	1	0	0	0	0	1	0	0	0	10585	1339	47	5	990	5	NPL	1	182798028	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	17284462	182798028	66452593	13	58502											
CFHR5	81494	broad.mit.edu	37	chr1	196963208	196963210	+	Splice_Site	DEL	AGA	AGA	-													gttcatttaattttatttttAgaaggagaatgtcatgttcc							TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:196963207_196963209TAGA>T	uc001gts.4	+	4	559	c.431_splice	c.e4-1	p.K144_splice		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	144					complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATTTTATTTTTAGAAGGAGAATG	0.315													-	196963210	AGA	-	196963208	8	5	90	1	0	1	0	1	0	0	1	0	3288	434	15	0	443	0	CFHR5	1	196963208	Splice_Site	DEL	AGA	TCGA-BR-8483-01A-31D-2394-08	14165180	196963208	52287413	14	58503											
REN	5972	broad.mit.edu	37	chr1	204131141	204131141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgagccaagcactcacGtccatgtagttggtgaggat	14	9	1	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:204131141G>A	uc001haq.2	-	2	293	c.249C>T	c.(247-249)GAC>GAT	p.D83D		NM_000537	NP_000528	P00797	RENI_HUMAN	renin preproprotein	83					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			skin(3)|central_nervous_system(1)	4	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AAGCACTCACGTCCATGTAGT	0.572													A	204131141	G	A	204131141	2	1	90	1	0	0	0	0	0	0	0	1	13224	1159	40	1		1	REN	1	204131141	Silent	SNP	G	TCGA-BR-8483-01A-31D-2394-08	7167933	204131141	45119480	15	58504											
TMCC2	9911	broad.mit.edu	37	chr1	205238338	205238338	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcacgcatcaagcaagtgttCgagaagaagaaccagaagtc	10	9	2	4	rs145697603		TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:205238338C>T	uc001hbz.1	+	4	1452	c.1008C>T	c.(1006-1008)TTC>TTT	p.F336F	TMCC2_uc010prf.1_Silent_p.F258F|TMCC2_uc001hca.2_Silent_p.F111F|TMCC2_uc001hcb.1_Silent_p.F96F|TMCC2_uc001hcc.1_5'UTR|TMCC2_uc001hcd.2_Silent_p.F103F	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	336	Potential.					integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGCAAGTGTTCGAGAAGAAGA	0.567													T	205238338	C	T	205238338	2	4	90	1	0	0	0	0	0	0	0	1	15990	883	31	1		1	TMCC2	1	205238338	Silent	SNP	C	TCGA-BR-8483-01A-31D-2394-08	1107197	205238338	44012283	16	58505											
SRGAP2	23380	broad.mit.edu	37	chr1	206619529	206619529	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacgaccaggtgtcctgccaAgcccacgtgaatgagctgat	11	13	0	3			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:206619529A>T	uc001hdy.2	+	15	2055	c.1722A>T	c.(1720-1722)CAA>CAT	p.Q574H	SRGAP2_uc010prt.1_Missense_Mutation_p.Q497H|SRGAP2_uc001hdx.2_Missense_Mutation_p.Q574H|SRGAP2_uc010pru.1_Missense_Mutation_p.Q497H|SRGAP2_uc010prv.1_Missense_Mutation_p.Q498H	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	661	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)					TGTCCTGCCAAGCCCACGTGA	0.562													T	206619529	A	T	206619529	3	4	90	1	0	0	0	0	1	0	0	0	15145	69	3	5	1781	5	SRGAP2	1	206619529	Missense_Mutation	SNP	A	TCGA-BR-8483-01A-31D-2394-08	1381191	206619529	42631092	17	58506											
ADCY3	109	broad.mit.edu	37	chr2	25057468	25057468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagcgggtttccatctcgGggtccatgaaccgcatggac	13	11	1	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:25057468G>A	uc002rfs.3	-	10	2052	c.1853C>T	c.(1852-1854)CCC>CTC	p.P618L	ADCY3_uc002rfr.3_Missense_Mutation_p.P251L|ADCY3_uc010ykm.1_Missense_Mutation_p.P618L	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	618	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TTCCATCTCGGGGTCCATGAA	0.567													A	25057468	G	A	25057468	3	1	90	1	0	0	0	0	1	0	0	0	295	1232	43	4	1629	4	ADCY3	2	25057468	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08		25057468	218141905	18	58507											
KLRAQ1	129285	broad.mit.edu	37	chr2	48687039	48687039	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accattgagaagctgcagaaCgacaaggctaaactagaagt	10	8	0	3			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:48687039C>T	uc002rwm.2	+	5	707	c.522C>T	c.(520-522)AAC>AAT	p.N174N	KLRAQ1_uc002rwi.1_Silent_p.N174N|KLRAQ1_uc002rwj.2_Silent_p.N174N|KLRAQ1_uc002rwl.2_Silent_p.N128N|KLRAQ1_uc002rwk.2_Silent_p.N174N|KLRAQ1_uc010yok.1_Silent_p.N174N	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	174	Potential.									ovary(1)	1						AGCTGCAGAACGACAAGGCTA	0.453													T	48687039	C	T	48687039	2	4	90	1	0	0	0	0	0	0	0	1	8413	535	19	1		1	KLRAQ1	2	48687039	Silent	SNP	C	TCGA-BR-8483-01A-31D-2394-08	23629571	48687039	194512334	19	58508											
EHBP1	23301	broad.mit.edu	37	chr2	63092029	63092030	+	Frame_Shift_Ins	INS	-	-	A													ctccccagtctacaaaaagaINSaaaaatataagacctgtgga							TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:63092028_63092029G>GA	uc002sby.3	+	9	1507_1508	c.1025_1026G>GA	c.(1024-1026)agafs	p.R342fs	EHBP1_uc010fcp.3_Frame_Shift_Ins_p.R307fs|EHBP1_uc002sbx.2_Frame_Shift_Ins_p.R307fs|EHBP1_uc002sbz.3_Frame_Shift_Ins_p.R307fs|EHBP1_uc002scb.3_Frame_Shift_Ins_p.R307fs	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	342				R -> G (in Ref. 2; AAQ97141 and 3; CAD38814).		cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TCTACAAAAAGAAAAAATATAA	0.381													A	63092030	-	A	63092029	7	5	90	1	0	1	1	0	0	0	0	0	4975	243	9	0	1060	0	EHBP1	2	63092029	Frame_Shift_Ins	INS	-	TCGA-BR-8483-01A-31D-2394-08	14404990	63092029	180107344	20	58509											
CD207	50489	broad.mit.edu	37	chr2	71058830	71058830	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acggagggctccaggggcttAcctcacactttggaccttgt	12	12	1	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:71058830A>T	uc002shg.2	-	5	883	c.836_splice	c.e5+1	p.R279_splice		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 antigen, langerin						defense response to virus	endocytic vesicle|integral to membrane	mannose binding			ovary(1)|lung(1)	2						CCAGGGGCTTACCTCACACTT	0.592													T	71058830	A	T	71058830	5	4	90	1	0	0	0	0	0	0	1	0	2983	405	14	5	156	5	CD207	2	71058830	Splice_Site	SNP	A	TCGA-BR-8483-01A-31D-2394-08	7966801	71058830	172140543	21	58510											
TFCP2L1	29842	broad.mit.edu	37	chr2	122007204	122007204	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcttccgattctccagtagTcggatttcataagactgacc	8	11	2	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:122007204T>A	uc002tmx.2	-	3	327	c.234A>T	c.(232-234)CGA>CGT	p.R78R	TFCP2L1_uc010flr.2_Silent_p.R78R	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	LBP-9	78					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			pancreas(2)|ovary(1)	3	Renal(3;0.01)					TCTCCAGTAGTCGGATTTCAT	0.453													A	122007204	T	A	122007204	2	1	90	1	0	0	0	0	0	0	0	1	15793	1654	58	5		5	TFCP2L1	2	122007204	Silent	SNP	T	TCGA-BR-8483-01A-31D-2394-08	50948374	122007204	121192169	22	58511											
LRP1B	53353	broad.mit.edu	37	chr2	142004919	142004919	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccataaacagcacattcatcTtgatctaaaaaggaaaattg	5	8	3	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:142004919T>G	uc002tvj.1	-	5	1440	c.468A>C	c.(466-468)CAA>CAC	p.Q156H	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	156	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACATTCATCTTGATCTAAAA	0.388										TSP Lung(27;0.18)			G	142004919	T	G	142004919	3	3	90	1	0	0	0	0	1	0	0	0	8955	1606	56	5	13679	5	LRP1B	2	142004919	Missense_Mutation	SNP	T	TCGA-BR-8483-01A-31D-2394-08	19997715	142004919	101194454	23	58512											
NEB	4703	broad.mit.edu	37	chr2	152554096	152554096	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaacagtatcgagcttgaAtttgggggtctcgcagtaat	12	7	1	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:152554096A>G	uc010fnx.2	-	14	1410	c.1219T>C	c.(1219-1221)TTC>CTC	p.F407L	NEB_uc010fny.1_5'UTR	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	407	Nebulin 10.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCGAGCTTGAATTTGGGGGTC	0.328													G	152554096	A	G	152554096	3	3	90	1	0	0	0	0	1	0	0	0	10302	101	4	3	25143	3	NEB	2	152554096	Missense_Mutation	SNP	A	TCGA-BR-8483-01A-31D-2394-08	10549177	152554096	90645277	24	58513											
GALNT13	114805	broad.mit.edu	37	chr2	155306925	155306925	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attggttatcttttacagagActcacgttgcgacatgttaa	8	7	2	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:155306925A>G	uc002tyr.3	+	13	2100	c.1533A>G	c.(1531-1533)AGA>AGG	p.R511R	GALNT13_uc002tyt.3_3'UTR|GALNT13_uc010fod.2_3'UTR|uc002tyu.1_Intron	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	511	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						TTTTACAGAGACTCACGTTGC	0.378													G	155306925	A	G	155306925	2	3	90	1	0	0	0	0	0	0	0	1	6211	272	10	3		3	GALNT13	2	155306925	Silent	SNP	A	TCGA-BR-8483-01A-31D-2394-08	2752829	155306925	87892448	25	58514											
TTN	7273	broad.mit.edu	37	chr2	179469800	179469800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctttgtcctcccggaccGctttgggaatgctaagctca	10	13	1	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:179469800G>A	uc010zfg.1	-	229	46624	c.46400C>T	c.(46399-46401)GCG>GTG	p.A15467V	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A9162V|TTN_uc010zfi.1_Missense_Mutation_p.A9095V|TTN_uc010zfj.1_Missense_Mutation_p.A8970V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16394							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCCGGACCGCTTTGGGAAT	0.443													A	179469800	G	A	179469800	3	1	90	1	0	0	0	0	1	0	0	0	16732	1087	38	1	53921	1	TTN	2	179469800	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	24162875	179469800	63729573	26	58515											
TTN	7273	broad.mit.edu	37	chr2	179592983	179592983	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagtctgtattttgcacttGtagatatttcttttccatcc	5	9	2	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:179592983G>T	uc010zfg.1	-	64	16060	c.15836C>A	c.(15835-15837)ACA>AAA	p.T5279K	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T1940K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6206							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTGCACTTGTAGATATTTC	0.388													T	179592983	G	T	179592983	3	4	90	1	0	0	0	0	1	0	0	0	16732	1377	48	5	85145	5	TTN	2	179592983	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	123183	179592983	63606390	27	58516											
AOX1	316	broad.mit.edu	37	chr2	201477352	201477352	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgggaatttgtgtcagccttCcgacaagcccagcgacagga	12	11	1	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:201477352C>A	uc002uvx.2	+	14	1385	c.1284C>A	c.(1282-1284)TTC>TTA	p.F428L	AOX1_uc010zhf.1_5'UTR|AOX1_uc010fsu.2_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	428					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGTCAGCCTTCCGACAAGCCC	0.458													A	201477352	C	A	201477352	3	1	90	1	0	0	0	0	1	0	0	0	729	854	30	5	1338	5	AOX1	2	201477352	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	21884369	201477352	41722021	28	58517											
ABCA12	26154	broad.mit.edu	37	chr2	215843627	215843627	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaggtaggcccctgagacTttggtgctgaatggaggaag	16	7	0	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:215843627T>C	uc002vew.2	-	32	5098	c.4878A>G	c.(4876-4878)AAA>AAG	p.K1626K	ABCA12_uc002vev.2_Silent_p.K1308K|ABCA12_uc010zjn.1_Silent_p.K553K	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1626					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCCCTGAGACTTTGGTGCTGA	0.542													C	215843627	T	C	215843627	2	2	90	1	0	0	0	0	0	0	0	1	30	1606	56	3		3	ABCA12	2	215843627	Silent	SNP	T	TCGA-BR-8483-01A-31D-2394-08	14366275	215843627	27355746	29	58518											
IGFBP2	3485	broad.mit.edu	37	chr2	217525405	217525405	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggtatgaaggagctggccGtgttccgggagaaggtcact	17	8	1	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:217525405G>T	uc010zjt.1	+	4	697	c.547G>T	c.(547-549)GTG>TTG	p.V183L	IGFBP2_uc010zju.1_Missense_Mutation_p.V118L	NM_000597	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2,	190					positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding				0		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		GGAGCTGGCCGTGTTCCGGGA	0.642													T	217525405	G	T	217525405	3	4	90	1	0	0	0	0	1	0	0	0	7579	1145	40	5	574	5	IGFBP2	2	217525405	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	1681778	217525405	25673968	30	58519											
OBSL1	23363	broad.mit.edu	37	chr2	220422982	220422982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcgtcctcaggctgggcGtggggcagggtcagggtgcg	21	11	2	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:220422982G>A	uc010fwk.2	-	10	3483	c.3426C>T	c.(3424-3426)CAC>CAT	p.H1142H	OBSL1_uc002vmh.1_Silent_p.H133H|OBSL1_uc010zli.1_Intron|OBSL1_uc010fwl.1_Silent_p.H617H	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1142	Ig-like 9.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CAGGCTGGGCGTGGGGCAGGG	0.667													A	220422982	G	A	220422982	2	1	90	1	0	0	0	0	0	0	0	1	10813	1136	40	1		1	OBSL1	2	220422982	Silent	SNP	G	TCGA-BR-8483-01A-31D-2394-08	2897577	220422982	22776391	31	58520											
FAM124B	79843	broad.mit.edu	37	chr2	225266407	225266407	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atccaggagctggtccagagTcctctgcagaagggagccgt	14	11	1	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:225266407T>A	uc002vnx.2	-	1	305	c.79A>T	c.(79-81)ACT>TCT	p.T27S	FAM124B_uc002vnw.2_Missense_Mutation_p.T27S	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	hypothetical protein LOC79843 isoform a	27							protein binding			ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		TGGTCCAGAGTCCTCTGCAGA	0.562													A	225266407	T	A	225266407	3	1	90	1	0	0	0	0	1	0	0	0	5426	1667	58	5	1387	5	FAM124B	2	225266407	Missense_Mutation	SNP	T	TCGA-BR-8483-01A-31D-2394-08	4843425	225266407	17932966	32	58521											
DNER	92737	broad.mit.edu	37	chr2	230377546	230377546	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccatcttgcttttcatttGcatcaatacagctcgcgttg	6	12	3	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:230377546G>T	uc002vpv.2	-	6	1247	c.1100C>A	c.(1099-1101)GCA>GAA	p.A367E	DNER_uc010zly.1_Missense_Mutation_p.A95E	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	367	Extracellular (Potential).|EGF-like 4.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CTTTTCATTTGCATCAATACA	0.448													T	230377546	G	T	230377546	3	4	90	1	0	0	0	0	1	0	0	0	4667	1319	46	5	1145	5	DNER	2	230377546	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	5111139	230377546	12821827	33	58522											
KCNH8	131096	broad.mit.edu	37	chr3	19554711	19554711	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcaaattcccccaaaAccaagcaggaaattgacccc	6	15	1	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr3:19554711A>C	uc003cbk.1	+	13	2524	c.2329A>C	c.(2329-2331)ACC>CCC	p.T777P	KCNH8_uc010hex.1_Missense_Mutation_p.T238P	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	777	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						TTCCCCCAAAACCAAGCAGGA	0.468													C	19554711	A	C	19554711	3	2	90	1	0	0	0	0	1	0	0	0	8038	43	2	5	2379	5	KCNH8	3	19554711	Missense_Mutation	SNP	A	TCGA-BR-8483-01A-31D-2394-08		19554711	178467719	34	58523											
TRAK1	22906	broad.mit.edu	37	chr3	42264612	42264612	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgttgaaggagcggggcAtttctgctgccgtgtacgac	16	9	1	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr3:42264612A>G	uc003cky.2	+	16	2461	c.2245A>G	c.(2245-2247)ATT>GTT	p.I749V	TRAK1_uc011azi.1_Missense_Mutation_p.I728V	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	749					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						GGAGCGGGGCATTTCTGCTGC	0.637													G	42264612	A	G	42264612	3	3	90	1	0	0	0	0	1	0	0	0	16446	217	8	3	2695	3	TRAK1	3	42264612	Missense_Mutation	SNP	A	TCGA-BR-8483-01A-31D-2394-08	22709901	42264612	155757818	35	58524											
CADPS	8618	broad.mit.edu	37	chr3	62459861	62459861	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttacctcttggcccattTccatgctgcaaagttttgtt	6	10	1	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr3:62459861T>C	uc003dll.2	-	24	3824	c.3464A>G	c.(3463-3465)GAA>GGA	p.E1155G	CADPS_uc003dlj.1_Missense_Mutation_p.E105G|CADPS_uc003dlk.1_Missense_Mutation_p.E603G|CADPS_uc003dlm.2_Missense_Mutation_p.E1116G|CADPS_uc003dln.2_Missense_Mutation_p.E1076G	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	1155					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TTGGCCCATTTCCATGCTGCA	0.358													C	62459861	T	C	62459861	3	2	90	1	0	0	0	0	1	0	0	0	2570	1783	62	3	625	3	CADPS	3	62459861	Missense_Mutation	SNP	T	TCGA-BR-8483-01A-31D-2394-08	20195249	62459861	135562569	36	58525											
TMEM39A	55254	broad.mit.edu	37	chr3	119165885	119165886	+	Frame_Shift_Ins	INS	-	-	T													ggtagccaaggaaaaggagaINSttgaggactgaatggcttcg							TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr3:119165885_119165886insT	uc003eck.1	-	5	917_918	c.554_555insA	c.(553-555)AATfs	p.N185fs	TMEM39A_uc003ecl.1_Frame_Shift_Ins_p.N33fs	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	185	Helical; (Potential).					integral to membrane				ovary(1)|breast(1)	2				GBM - Glioblastoma multiforme(114;0.244)		GGAAAAGGAGATTGAGGACTGA	0.406													T	119165886	-	T	119165885	7	5	90	1	0	1	1	0	0	0	0	0	16158	330	12	0	931	0	TMEM39A	3	119165885	Frame_Shift_Ins	INS	-	TCGA-BR-8483-01A-31D-2394-08	56706024	119165885	78856545	37	58526	257	2									
TMEM39A	55254	broad.mit.edu	37	chr3	119165886	119165887	+	Frame_Shift_Ins	INS	-	-	T													gtagccaaggaaaaggagatINStgaggactgaatggcttcga							TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr3:119165885_119165886A>AT	uc003eck.1	-	4	917_918	c.554_555T>AT	c.(553-555)aatfs	p.N185fs	TMEM39A_uc003ecl.1_Frame_Shift_Ins_p.N33fs	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	Homo sapiens transmembrane protein 39A (TMEM39A), mRNA.	185						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		GGAAAAGGAGATTGAGGACTGA	0.406													T	119165887	-	T	119165886	7	5	90	1	0	1	1	0	0	0	0	0	16158	1493	52	0	932	0	TMEM39A	3	119165886	Frame_Shift_Ins	INS	-	TCGA-BR-8483-01A-31D-2394-08	1	119165886	78856544	38	58527	257	2									
FAM194A	131831	broad.mit.edu	37	chr3	150377783	150377783	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagagaaagtgaagaaaggtAggaaggttgctttaattttt	12	1	0	3			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr3:150377783A>G	uc003eyg.2	-	14	1945	c.1888T>C	c.(1888-1890)TAC>CAC	p.Y630H	FAM194A_uc003eyh.2_Missense_Mutation_p.Y484H	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	630										skin(2)|ovary(1)	3						GAAGAAAGGTAGGAAGGTTGC	0.348													G	150377783	A	G	150377783	3	3	90	1	0	0	0	0	1	0	0	0	5526	420	15	3	107	3	FAM194A	3	150377783	Missense_Mutation	SNP	A	TCGA-BR-8483-01A-31D-2394-08	31211897	150377783	47644647	39	58528											
BCHE	590	broad.mit.edu	37	chr3	165547877	165547877	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acggtcggaccaaagtttacTgacaaaggagtcccataggg	12	9	0	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr3:165547877T>C	uc003fem.3	-	2	1105	c.945A>G	c.(943-945)TCA>TCG	p.S315S	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	315					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CAAAGTTTACTGACAAAGGAG	0.393													C	165547877	T	C	165547877	2	2	90	1	0	0	0	0	0	0	0	1	1358	1567	55	3		3	BCHE	3	165547877	Silent	SNP	T	TCGA-BR-8483-01A-31D-2394-08	15170094	165547877	32474553	40	58529											
PIGG	54872	broad.mit.edu	37	chr4	502758	502758	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcgtttgaaaggaaaccCggtgagaatttaggaatgtt	12	5	1	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr4:502758C>T	uc003gak.3	+	5	1036	c.900C>T	c.(898-900)CCC>CCT	p.P300P	PIGG_uc003gaj.3_Silent_p.P300P|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Silent_p.P167P|PIGG_uc003gal.3_Silent_p.P211P|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Silent_p.P178P|PIGG_uc003gam.2_Silent_p.P211P|PIGG_uc003gan.2_Silent_p.P211P	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	300	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						AAAGGAAACCCGGTGAGAATT	0.393													T	502758	C	T	502758	2	4	90	1	0	0	0	0	0	0	0	1	11888	666	23	1		1	PIGG	4	502758	Silent	SNP	C	TCGA-BR-8483-01A-31D-2394-08		502758	190651518	41	58530											
LRRC66	339977	broad.mit.edu	37	chr4	52862164	52862164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttcctgagaccagagcCggcctttgccttcttcccca	7	17	2	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr4:52862164C>T	uc003gzi.2	-	4	1037	c.1024G>A	c.(1024-1026)GGC>AGC	p.G342S		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	342						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						AGACCAGAGCCGGCCTTTGCC	0.577													T	52862164	C	T	52862164	3	4	90	1	0	0	0	0	1	0	0	0	9018	652	23	1	1622	1	LRRC66	4	52862164	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	52359406	52862164	138292112	42	58531											
EMCN	51705	broad.mit.edu	37	chr4	101342536	101342536	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accaccggcaaaataataccTaaaaagaattggagacattg	7	8	0	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr4:101342536T>G	uc003hvr.2	-	8	748	c.569_splice	c.e8-1	p.S190_splice	EMCN_uc011cel.1_Splice_Site_p.S177_splice|EMCN_uc011cem.1_Intron	NM_016242	NP_057326	Q9ULC0	MUCEN_HUMAN	endomucin isoform 1							extracellular region|integral to membrane|plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		AAATAATACCTAAAAAGAATT	0.388													G	101342536	T	G	101342536	5	3	90	1	0	0	0	0	0	0	1	0	5086	1536	53	5	234	5	EMCN	4	101342536	Splice_Site	SNP	T	TCGA-BR-8483-01A-31D-2394-08	48480372	101342536	89811740	43	58532											
FAT4	79633	broad.mit.edu	37	chr4	126412593	126412593	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatgcccaaattatctcaAgtcaatgaatctgatgcaga	7	8	3	4			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr4:126412593A>G	uc003ifj.3	+	17	14616	c.14616A>G	c.(14614-14616)CAA>CAG	p.Q4872Q	FAT4_uc011cgp.1_Silent_p.Q3113Q|FAT4_uc003ifi.1_Silent_p.Q2349Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4872	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AATTATCTCAAGTCAATGAAT	0.473													G	126412593	A	G	126412593	2	3	90	1	0	0	0	0	0	0	0	1	5692	69	3	3		3	FAT4	4	126412593	Silent	SNP	A	TCGA-BR-8483-01A-31D-2394-08	25070057	126412593	64741683	44	58533											
DCHS2	54798	broad.mit.edu	37	chr4	155254426	155254426	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatccgaggtcctgaggaaCgctgggtggttgtcattgac	14	9	2	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr4:155254426C>T	uc003inw.2	-	9	1437	c.1437G>A	c.(1435-1437)GCG>GCA	p.A479A	DCHS2_uc003inx.2_Silent_p.A978A	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	479	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCTGAGGAACGCTGGGTGGT	0.602													T	155254426	C	T	155254426	2	4	90	1	0	0	0	0	0	0	0	1	4288	523	19	1		1	DCHS2	4	155254426	Silent	SNP	C	TCGA-BR-8483-01A-31D-2394-08	28841833	155254426	35899850	45	58534											
MARCH6	10299	broad.mit.edu	37	chr5	10402501	10402501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctgatgctgtagggcttGgcaactcttgtgaaatttca	11	8	2	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr5:10402501G>A	uc003jet.1	+	13	1242	c.1059G>A	c.(1057-1059)TTG>TTA	p.L353L	MARCH6_uc011cmu.1_Silent_p.L305L|MARCH6_uc003jeu.1_Silent_p.L51L|MARCH6_uc011cmv.1_Silent_p.L248L	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	353	Helical; (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						TGTAGGGCTTGGCAACTCTTG	0.338													A	10402501	G	A	10402501	2	1	90	1	0	0	0	0	0	0	0	1	9305	1339	47	4		4	MARCH6	5	10402501	Silent	SNP	G	TCGA-BR-8483-01A-31D-2394-08		10402501	170512759	46	58535											
PCDHAC2	56134	broad.mit.edu	37	chr5	140348338	140348338	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacctgaccgtggtggtcCgagataatggagagccatca	12	10	2	3			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr5:140348338C>T	uc003lii.2	+	1	2227	c.1987C>T	c.(1987-1989)CGA>TGA	p.R663*	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Nonsense_Mutation_p.R663*	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	663	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGTGGTCCGAGATAATGG	0.498													T	140348338	C	T	140348338	4	4	90	1	0	0	0	0	0	1	0	0	11533	644	23	1	1989	1	PCDHAC2	5	140348338	Nonsense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	129945837	140348338	40566922	47	58536											
DST	667	broad.mit.edu	37	chr6	56347545	56347545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacacacggtctcccagCgtgtgcttaattcctgcatc	9	14	1	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr6:56347545C>T	uc003pdf.2	-	83	15009	c.14981G>A	c.(14980-14982)CGC>CAC	p.R4994H	DST_uc003pcz.3_Missense_Mutation_p.R4816H|DST_uc011dxj.1_Missense_Mutation_p.R4845H|DST_uc011dxk.1_Missense_Mutation_p.R4856H|DST_uc003pcy.3_Missense_Mutation_p.R4490H	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6902	Spectrin 19.				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)			GGTCTCCCAGCGTGTGCTTAA	0.527													T	56347545	C	T	56347545	3	4	90	1	0	0	0	0	1	0	0	0	4783	768	27	1	2106	1	DST	6	56347545	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08		56347545	114767522	48	58537											
FUT9	10690	broad.mit.edu	37	chr6	96651145	96651145	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctaccaacagctggatcttCagtccaatggaatcagccag	8	13	3	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr6:96651145C>A	uc003pop.3	+	3	455	c.114C>A	c.(112-114)TTC>TTA	p.F38L		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	38	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			skin(4)|ovary(1)	5		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GCTGGATCTTCAGTCCAATGG	0.403													A	96651145	C	A	96651145	3	1	90	1	0	0	0	0	1	0	0	0	6111	825	29	5	116	5	FUT9	6	96651145	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	40303600	96651145	74463922	49	58538											
SYNE1	23345	broad.mit.edu	37	chr6	152631870	152631870	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaattttgatcatctgtcGcaactcctcagtctcccgtc	6	14	4	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr6:152631870G>A	uc010kiw.2	-	88	17451	c.16849C>T	c.(16849-16851)CGA>TGA	p.R5617*	SYNE1_uc010kiv.2_Nonsense_Mutation_p.R141*|SYNE1_uc003qos.3_Nonsense_Mutation_p.R141*|SYNE1_uc003qot.3_Nonsense_Mutation_p.R5546*|SYNE1_uc003qou.3_Nonsense_Mutation_p.R5617*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5617	Spectrin 17.|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)		ATCATCTGTCGCAACTCCTCA	0.368										HNSCC(10;0.0054)			A	152631870	G	A	152631870	4	1	90	1	0	0	0	0	0	1	0	0	15442	1095	38	1	9853	1	SYNE1	6	152631870	Nonsense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	55980725	152631870	18483197	50	58539											
PLG	5340	broad.mit.edu	37	chr6	161139469	161139469	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcacacacataacaggacaCcagaaaacttcccctgcaag	5	15	1	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr6:161139469C>G	uc003qtm.3	+	8	994	c.931C>G	c.(931-933)CCA>GCA	p.P311A		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	311	Kringle 3.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TAACAGGACACCAGAAAACTT	0.502													G	161139469	C	G	161139469	3	3	90	1	0	0	0	0	1	0	0	0	12086	507	18	5	965	5	PLG	6	161139469	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	8507599	161139469	9975598	51	58540											
GPER	2852	broad.mit.edu	37	chr7	1132278	1132278	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgccatgcccaccccctcaCgggccacattgtcaacctcg	7	21	2	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:1132278C>A	uc010ksd.1	+	2	1303	c.914C>A	c.(913-915)ACG>AAG	p.T305K	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.T305K|GPER_uc003ska.1_Missense_Mutation_p.T305K|GPER_uc003skb.2_Missense_Mutation_p.T305K	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	305	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		CACCCCCTCACGGGCCACATT	0.627													A	1132278	C	A	1132278	3	1	90	1	0	0	0	0	1	0	0	0	6607	536	19	5	916	5	GPER	7	1132278	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08		1132278	158006385	52	58541											
ZNF12	7559	broad.mit.edu	37	chr7	6731976	6731976	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agactttcttcatttagagtAtaaggttccccattttgatt	6	7	2	3			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:6731976A>G	uc003sqt.1	-	5	1151	c.597T>C	c.(595-597)TAT>TAC	p.Y199Y	ZNF12_uc011jxa.1_Silent_p.Y37Y|ZNF12_uc003sqs.1_Silent_p.Y161Y	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	199					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CATTTAGAGTATAAGGTTCCC	0.343													G	6731976	A	G	6731976	2	3	90	1	0	0	0	0	0	0	0	1	17715	456	16	3		3	ZNF12	7	6731976	Silent	SNP	A	TCGA-BR-8483-01A-31D-2394-08	5599698	6731976	152406687	53	58542											
TMEM195	392636	broad.mit.edu	37	chr7	15458194	15458194	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagttttacctctgtatggaTccaaaattggtaaagaagat	8	5	1	2	rs146442781	byFrequency	TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:15458194T>C	uc003stb.1	-	5	768	c.598A>G	c.(598-600)ATC>GTC	p.I200V		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	200					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0						TCTGTATGGATCCAAAATTGG	0.348													C	15458194	T	C	15458194	3	2	90	1	0	0	0	0	1	0	0	0	16114	1435	50	3	775	3	TMEM195	7	15458194	Missense_Mutation	SNP	T	TCGA-BR-8483-01A-31D-2394-08	8726218	15458194	143680469	54	58543											
SFRP4	6424	broad.mit.edu	37	chr7	37955825	37955825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggggctcgcagtcgtcGcgcgcgcgttggcacaccga	16	13	0	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:37955825G>A	uc003tfo.3	-	1	701	c.315C>T	c.(313-315)CGC>CGT	p.R105R		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	105	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(1)	1						CGCAGTCGTCGCGCGCGCGTT	0.622													A	37955825	G	A	37955825	2	1	90	1	0	0	0	0	0	0	0	1	14163	1074	38	1		1	SFRP4	7	37955825	Silent	SNP	G	TCGA-BR-8483-01A-31D-2394-08	22497631	37955825	121182838	55	58544											
GLI3	2737	broad.mit.edu	37	chr7	42004495	42004495	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcggcatagcctggcgcctGctgcccccaaagctggcaca	11	17	0	0	rs148622689		TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:42004495G>T	uc011kbh.1	-	15	4267	c.4176C>A	c.(4174-4176)AGC>AGA	p.S1392R	GLI3_uc011kbg.1_Missense_Mutation_p.S1333R	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1392					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CCTGGCGCCTGCTGCCCCCAA	0.617									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42004495	G	T	42004495	3	4	90	1	0	0	0	0	1	0	0	0	6439	1310	46	5	570	5	GLI3	7	42004495	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	4048670	42004495	117134168	56	58545											
GLI3	2737	broad.mit.edu	37	chr7	42005385	42005385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatttaaatactgcaccaCgtcgtccggcaggaaatcct	9	11	0	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:42005385C>T	uc011kbh.1	-	15	3377	c.3286G>A	c.(3286-3288)GTG>ATG	p.V1096M	GLI3_uc011kbg.1_Missense_Mutation_p.V1037M	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1096					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						TACTGCACCACGTCGTCCGGC	0.607									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42005385	C	T	42005385	3	4	90	1	0	0	0	0	1	0	0	0	6439	536	19	1	1460	1	GLI3	7	42005385	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	890	42005385	117133278	57	58546											
ABCA13	154664	broad.mit.edu	37	chr7	48314339	48314339	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtgtaaacctaatggatttCtttaagaatatcagtagtgt	8	4	2	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:48314339C>A	uc003toq.2	+	17	5101	c.5076C>A	c.(5074-5076)TTC>TTA	p.F1692L	ABCA13_uc010kyr.2_Missense_Mutation_p.F1195L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1692					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TAATGGATTTCTTTAAGAATA	0.383													A	48314339	C	A	48314339	3	1	90	1	0	0	0	0	1	0	0	0	31	912	32	5	4971	5	ABCA13	7	48314339	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	6308954	48314339	110824324	58	58547											
ABCA13	154664	broad.mit.edu	37	chr7	48511147	48511147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaattcttcatgctggcGcacagatcccttttctcacc	7	13	3	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:48511147G>A	uc003toq.2	+	45	12951	c.12926G>A	c.(12925-12927)CGC>CAC	p.R4309H	ABCA13_uc010kys.1_Missense_Mutation_p.R1384H|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.R39H	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4309					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TCATGCTGGCGCACAGATCCC	0.343													A	48511147	G	A	48511147	3	1	90	1	0	0	0	0	1	0	0	0	31	1087	38	1	12933	1	ABCA13	7	48511147	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	196808	48511147	110627516	59	58548											
ZNF479	90827	broad.mit.edu	37	chr7	57187647	57187647	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacattcttcacatttgtagGgtttctctccagtatgaatt	6	9	3	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:57187647G>T	uc010kzo.2	-	5	1746	c.1475C>A	c.(1474-1476)CCC>CAC	p.P492H		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)			ACATTTGTAGGGTTTCTCTCC	0.388													T	57187647	G	T	57187647	3	4	90	1	0	0	0	0	1	0	0	0	17930	1232	43	5	103	5	ZNF479	7	57187647	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	8676500	57187647	101951016	60	58549											
PCLO	27445	broad.mit.edu	37	chr7	82578926	82578926	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgggggaactttagccatatCtggatgcagtactttctgtg	12	7	2	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:82578926C>A	uc003uhx.2	-	6	11267	c.10978G>T	c.(10978-10980)GAT>TAT	p.D3660Y	PCLO_uc003uhv.2_Missense_Mutation_p.D3660Y|PCLO_uc010lec.2_Missense_Mutation_p.D625Y	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3591					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TTAGCCATATCTGGATGCAGT	0.473													A	82578926	C	A	82578926	3	1	90	1	0	0	0	0	1	0	0	0	11583	913	32	5	4547	5	PCLO	7	82578926	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	25391279	82578926	76559737	61	58550											
SAMD9	54809	broad.mit.edu	37	chr7	92732584	92732585	+	Missense_Mutation	DNP	CT	CT	TC													agccttcttgtttccaattcCtaagaatttttcacactgtg							TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:92732584_92732585CT>TC	uc003umf.2	-	3	3082_3083	c.2826_2827AG>GA	c.(2824-2829)TTAGGA>TTGAGA	p.G943R	SAMD9_uc003umg.2_Missense_Mutation_p.G943R	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	943						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTCCAATTCCTAAGAATTTTT	0.381													TC	92732585	CT	TC	92732584	3	4	90	1	0	0	0	0	1	0	0	0	13826	690	24	4	1946	4	SAMD9	7	92732584	Missense_Mutation	DNP	CT	TCGA-BR-8483-01A-31D-2394-08	10153658	92732584	66406079	62	58551											
PSMC2	5701	broad.mit.edu	37	chr7	102988185	102988185	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattacctcggtgccgatcaGcggaagaccaaagaggatga	13	9	1	3			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:102988185G>T	uc003vbs.2	+	1	97	c.27G>T	c.(25-27)CAG>CAT	p.Q9H	DNAJC2_uc003vbo.2_5'Flank|DNAJC2_uc010lix.2_5'Flank|DNAJC2_uc003vbp.2_5'Flank|DNAJC2_uc003vbq.1_5'Flank|DNAJC2_uc003vbr.1_5'Flank|PSMC2_uc011kln.1_Missense_Mutation_p.Q9H|PSMC2_uc011klo.1_5'UTR	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	9					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0						GTGCCGATCAGCGGAAGACCA	0.577													T	102988185	G	T	102988185	3	4	90	1	0	0	0	0	1	0	0	0	12686	962	34	5	29	5	PSMC2	7	102988185	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	10255601	102988185	56150478	63	58552											
CTTNBP2	83992	broad.mit.edu	37	chr7	117396625	117396625	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctaccagcctgaggtagttcTgcatcatctggagagggatc	12	10	3	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:117396625T>A	uc003vjf.2	-	12	3424	c.3332A>T	c.(3331-3333)CAG>CTG	p.Q1111L		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1111										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GAGGTAGTTCTGCATCATCTG	0.493													A	117396625	T	A	117396625	3	1	90	1	0	0	0	0	1	0	0	0	4045	1580	55	5	1707	5	CTTNBP2	7	117396625	Missense_Mutation	SNP	T	TCGA-BR-8483-01A-31D-2394-08	14408440	117396625	41742038	64	58553											
AKR1B10	57016	broad.mit.edu	37	chr7	134215525	134215525	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagagaagatccaagagaAggctgtgaagcgggaggacc	15	8	0	4			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:134215525A>G	uc003vrr.2	+	2	517	c.197A>G	c.(196-198)AAG>AGG	p.K66R		NM_020299	NP_064695	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10	66					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			skin(5)	5						ATCCAAGAGAAGGCTGTGAAG	0.517													G	134215525	A	G	134215525	3	3	90	1	0	0	0	0	1	0	0	0	467	72	3	3	203	3	AKR1B10	7	134215525	Missense_Mutation	SNP	A	TCGA-BR-8483-01A-31D-2394-08	16818900	134215525	24923138	65	58554											
RBM33	155435	broad.mit.edu	37	chr7	155457902	155457902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtttgataagcctggcgCggaacggtcgtggagaagaa	15	8	0	3			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:155457902C>T	uc010lqk.1	+	2	445	c.77C>T	c.(76-78)GCG>GTG	p.A26V	RBM33_uc003wme.2_Missense_Mutation_p.A26V	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	26							nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AAGCCTGGCGCGGAACGGTCG	0.458													T	155457902	C	T	155457902	3	4	90	1	0	0	0	0	1	0	0	0	13130	768	27	1	83	1	RBM33	7	155457902	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	21242377	155457902	3680761	66	58555											
DLC1	10395	broad.mit.edu	37	chr8	13356639	13356639	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattgtaaacactgcatgccAtcttctgccttgacctttgg	7	11	2	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr8:13356639A>G	uc003wwm.2	-	2	1386	c.942T>C	c.(940-942)GAT>GAC	p.D314D	DLC1_uc003wwn.2_Silent_p.D314D|DLC1_uc011kxy.1_Silent_p.D314D	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	314					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						ACTGCATGCCATCTTCTGCCT	0.458													G	13356639	A	G	13356639	2	3	90	1	0	0	0	0	0	0	0	1	4550	214	8	3		3	DLC1	8	13356639	Silent	SNP	A	TCGA-BR-8483-01A-31D-2394-08		13356639	133007383	67	58556											
SORBS3	10174	broad.mit.edu	37	chr8	22428560	22428560	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctccggctctgtgacgaCggcccccagctccccacgtc	11	20	1	1	rs146729720		TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr8:22428560C>T	uc003xbv.2	+	18	1909	c.1569C>T	c.(1567-1569)GAC>GAT	p.D523D	SORBS3_uc003xbw.3_Silent_p.D181D	NM_005775	NP_005766	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3 isoform 1	523					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding				0		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TCTGTGACGACGGCCCCCAGC	0.711													T	22428560	C	T	22428560	2	4	90	1	0	0	0	0	0	0	0	1	14929	535	19	1		1	SORBS3	8	22428560	Silent	SNP	C	TCGA-BR-8483-01A-31D-2394-08	9071921	22428560	123935462	68	58557											
CYP7B1	9420	broad.mit.edu	37	chr8	65527645	65527645	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaatccagaccctttcTtttgacctgttgactgcagc	9	11	1	3			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr8:65527645T>G	uc003xvj.2	-	4	1199	c.995A>C	c.(994-996)AAG>ACG	p.K332T		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	332					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGACCCTTTCTTTTGACCTGT	0.443													G	65527645	T	G	65527645	3	3	90	1	0	0	0	0	1	0	0	0	4197	1609	56	5	537	5	CYP7B1	8	65527645	Missense_Mutation	SNP	T	TCGA-BR-8483-01A-31D-2394-08	43099085	65527645	80836377	69	58558											
PREX2	80243	broad.mit.edu	37	chr8	69020559	69020559	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gataaagaaaacaaatcttcGgagcaaggtatgctagcttt	9	6	1	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr8:69020559G>A	uc003xxv.1	+	24	2958	c.2931G>A	c.(2929-2931)TCG>TCA	p.S977S	PREX2_uc011lez.1_Silent_p.S912S	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	977					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						ACAAATCTTCGGAGCAAGGTA	0.363													A	69020559	G	A	69020559	2	1	90	1	0	0	0	0	0	0	0	1	12477	1103	39	1		1	PREX2	8	69020559	Silent	SNP	G	TCGA-BR-8483-01A-31D-2394-08	3492914	69020559	77343463	70	58559											
ZFHX4	79776	broad.mit.edu	37	chr8	77618402	77618402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggggtgagagttacacGtgtggctataaacccttccg	13	11	0	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr8:77618402G>A	uc003yav.2	+	2	2466	c.2079G>A	c.(2077-2079)ACG>ACA	p.T693T	ZFHX4_uc003yat.1_Silent_p.T693T|ZFHX4_uc003yau.1_Silent_p.T693T|ZFHX4_uc003yaw.1_Silent_p.T693T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	693						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGAGTTACACGTGTGGCTATA	0.507										HNSCC(33;0.089)			A	77618402	G	A	77618402	2	1	90	1	0	0	0	0	0	0	0	1	17632	1132	40	1		1	ZFHX4	8	77618402	Silent	SNP	G	TCGA-BR-8483-01A-31D-2394-08	8597843	77618402	68745620	71	58560											
ZFHX4	79776	broad.mit.edu	37	chr8	77690512	77690512	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactgtgccgtgtgtgattaCaccaccaaggtcaagttgaa	10	9	1	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr8:77690512C>A	uc003yav.2	+	4	3471	c.3084C>A	c.(3082-3084)TAC>TAA	p.Y1028*	ZFHX4_uc003yau.1_Nonsense_Mutation_p.Y1054*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.Y1028*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1028	C2H2-type 7.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGTGTGATTACACCACCAAGG	0.517										HNSCC(33;0.089)			A	77690512	C	A	77690512	4	1	90	1	0	0	0	0	0	1	0	0	17632	489	17	5	3172	5	ZFHX4	8	77690512	Nonsense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	72110	77690512	68673510	72	58561											
ZFPM2	23414	broad.mit.edu	37	chr8	106815342	106815342	+	Frame_Shift_Del	DEL	A	A	-													cgagcaaagcagaaatgcagAaaatgaatctcctaaaggcc							TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr8:106815341_106815341GA>G	uc003ymd.3	+	7	3054	c.3031_3031GA>G	c.(3031-3033)gaafs	p.E1011fs	ZFPM2_uc011lhs.2_Frame_Shift_Del_p.E742fs	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	1011					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGAAATGCAGAAAATGAATC	0.428													-	106815342	A	-	106815342	7	5	90	1	0	1	0	1	0	0	0	0	17655	246	9	0	3062	0	ZFPM2	8	106815342	Frame_Shift_Del	DEL	A	TCGA-BR-8483-01A-31D-2394-08	29124830	106815342	39548680	73	58562											
ADCY8	114	broad.mit.edu	37	chr8	131793086	131793086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatactgtggtttcttagcGccgataacgccagctaccac	8	13	2	0	rs145809062		TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr8:131793086G>A	uc003ytd.3	-	18	3562	c.3306C>T	c.(3304-3306)GGC>GGT	p.G1102G	ADCY8_uc010mds.2_Silent_p.G971G	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	1102	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTTTCTTAGCGCCGATAACGC	0.567										HNSCC(32;0.087)			A	131793086	G	A	131793086	2	1	90	1	0	0	0	0	0	0	0	1	300	1074	38	1		1	ADCY8	8	131793086	Silent	SNP	G	TCGA-BR-8483-01A-31D-2394-08	24977744	131793086	14570936	74	58563											
FAM135B	51059	broad.mit.edu	37	chr8	139180179	139180179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgtcctcaaagatcaccGgcagggtgttccaatcgccg	10	13	3	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr8:139180179G>A	uc003yuy.2	-	12	1388	c.1217C>T	c.(1216-1218)CCG>CTG	p.P406L	FAM135B_uc003yux.2_Missense_Mutation_p.P307L|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	406										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAAGATCACCGGCAGGGTGTT	0.547										HNSCC(54;0.14)			A	139180179	G	A	139180179	3	1	90	1	0	0	0	0	1	0	0	0	5449	1116	39	1	3039	1	FAM135B	8	139180179	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	7387093	139180179	7183843	75	58564											
COL22A1	169044	broad.mit.edu	37	chr8	139609182	139609182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctcttcttgaataagcCgacgcagggtttccatggat	10	11	2	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr8:139609182C>T	uc003yvd.2	-	62	4844	c.4397G>A	c.(4396-4398)CGG>CAG	p.R1466Q	COL22A1_uc011ljo.1_Missense_Mutation_p.R746Q	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1466	Pro-rich.|Gly-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGAATAAGCCGACGCAGGGT	0.527										HNSCC(7;0.00092)			T	139609182	C	T	139609182	3	4	90	1	0	0	0	0	1	0	0	0	3681	652	23	1	499	1	COL22A1	8	139609182	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	429003	139609182	6754840	76	58565											
KCNK9	51305	broad.mit.edu	37	chr8	140630778	140630778	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtccgccttgtacctgggcCggctgggccgcggctcctca	14	17	1	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr8:140630778C>A	uc003yvf.1	-	2	912	c.848G>T	c.(847-849)CGG>CTG	p.R283L	KCNK9_uc003yvg.1_Missense_Mutation_p.R283L|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	283	Cytoplasmic (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GTACCTGGGCCGGCTGGGCCG	0.657													A	140630778	C	A	140630778	3	1	90	1	0	0	0	0	1	0	0	0	8072	652	23	5	280	5	KCNK9	8	140630778	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	1021596	140630778	5733244	77	58566											
PLEC	5339	broad.mit.edu	37	chr8	144993781	144993781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacatacaggcgctggttcCgcacggggtccaccaggaag	15	12	0	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr8:144993781C>T	uc003zaf.1	-	32	10789	c.10619G>A	c.(10618-10620)CGG>CAG	p.R3540Q	PLEC_uc003zab.1_Missense_Mutation_p.R3403Q|PLEC_uc003zac.1_Missense_Mutation_p.R3407Q|PLEC_uc003zad.2_Missense_Mutation_p.R3403Q|PLEC_uc003zae.1_Missense_Mutation_p.R3371Q|PLEC_uc003zag.1_Missense_Mutation_p.R3381Q|PLEC_uc003zah.2_Missense_Mutation_p.R3389Q|PLEC_uc003zaj.2_Missense_Mutation_p.R3430Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3540	Plectin 13.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCGCTGGTTCCGCACGGGGTC	0.697													T	144993781	C	T	144993781	3	4	90	1	0	0	0	0	1	0	0	0	12052	652	23	1	3439	1	PLEC	8	144993781	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	4363003	144993781	1370241	78	58567											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18474284	18474284	+	Frame_Shift_Del	DEL	C	C	-													ctgctcctctttctggctttCctgctcctggtaaatgcctt							TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr9:18474283_18474283TC>T	uc003zne.4	+	0	205	c.53_53TC>T	c.(52-54)ttcfs	p.F18fs	ADAMTSL1_uc003znb.3_Frame_Shift_Del_p.F18fs|ADAMTSL1_uc003znc.4_Frame_Shift_Del_p.F18fs	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	18						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTTCTGGCTTTCCTGCTCCTG	0.498													-	18474284	C	-	18474284	7	5	90	1	0	1	0	1	0	0	0	0	274	854	30	0	56	0	ADAMTSL1	9	18474284	Frame_Shift_Del	DEL	C	TCGA-BR-8483-01A-31D-2394-08		18474284	122739147	79	58568											
ASTN2	23245	broad.mit.edu	37	chr9	119976675	119976675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttctcttcccctggatgtCccagactgtccagagtgtgg	10	14	1	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr9:119976675C>T	uc004bjs.1	-	3	1078	c.977G>A	c.(976-978)GGA>GAA	p.G326E	ASTN2_uc004bjr.1_Missense_Mutation_p.G326E|ASTN2_uc004bjt.1_Missense_Mutation_p.G326E	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	326	Cytoplasmic (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						CCCTGGATGTCCCAGACTGTC	0.557													T	119976675	C	T	119976675	3	4	90	1	0	0	0	0	1	0	0	0	1065	855	30	4	3201	4	ASTN2	9	119976675	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	101502391	119976675	21236756	80	58569											
UBAC1	10422	broad.mit.edu	37	chr9	138831533	138831533	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaccgcggcattctgctGgttgttgttcactctgaggg	12	11	4	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr9:138831533G>A	uc004cgt.2	-	8	1167	c.949C>T	c.(949-951)CAG>TAG	p.Q317*	UBAC1_uc004cgs.1_Nonsense_Mutation_p.Q317*|UBAC1_uc004cgu.2_RNA	NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	ubiquitin associated domain containing 1	317	UBA 2.					Golgi apparatus|plasma membrane	protein binding			skin(2)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		GCATTCTGCTGGTTGTTGTTC	0.358													A	138831533	G	A	138831533	4	1	90	1	0	0	0	0	0	1	0	0	16831	1357	47	4	280	4	UBAC1	9	138831533	Nonsense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	18854858	138831533	2381898	81	58570											
SLC39A12	221074	broad.mit.edu	37	chr10	18292192	18292192	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taactgccttcatgggattaTacattggcctttccgtgtca	8	10	2	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr10:18292192T>C	uc001ipo.2	+	12	2125	c.1852T>C	c.(1852-1854)TAC>CAC	p.Y618H	SLC39A12_uc001ipn.2_Missense_Mutation_p.Y581H|SLC39A12_uc001ipp.2_Missense_Mutation_p.Y617H|SLC39A12_uc010qck.1_Missense_Mutation_p.Y484H|uc001ipq.1_RNA	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	618	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						CATGGGATTATACATTGGCCT	0.428													C	18292192	T	C	18292192	3	2	90	1	0	0	0	0	1	0	0	0	14615	1406	49	3	1894	3	SLC39A12	10	18292192	Missense_Mutation	SNP	T	TCGA-BR-8483-01A-31D-2394-08		18292192	117242555	82	58571											
ARMC4	55130	broad.mit.edu	37	chr10	28225654	28225654	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atattgagagccttctcttaCttggtaacattctctttgct	6	9	2	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr10:28225654C>G	uc009xky.2	-	15	2350	c.2252_splice	c.e15+1	p.K751_splice	ARMC4_uc010qds.1_Splice_Site_p.K276_splice|ARMC4_uc010qdt.1_Splice_Site_p.K443_splice|ARMC4_uc001itz.2_Splice_Site_p.K751_splice	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4								binding			ovary(4)|skin(2)	6						CCTTCTCTTACTTGGTAACAT	0.398													G	28225654	C	G	28225654	5	3	90	1	0	0	0	0	0	0	1	0	953	579	20	5	905	5	ARMC4	10	28225654	Splice_Site	SNP	C	TCGA-BR-8483-01A-31D-2394-08	9933462	28225654	107309093	83	58572											
LUZP2	338645	broad.mit.edu	37	chr11	25004701	25004701	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaaagcaatgaaagagacTgtgcagctctgcttgacatc	10	8	1	4			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr11:25004701T>G	uc001mqs.2	+	9	861	c.627T>G	c.(625-627)ACT>ACG	p.T209T	LUZP2_uc009yif.2_Silent_p.T123T|LUZP2_uc009yig.2_Silent_p.T167T	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2 precursor	209	Potential.					extracellular region				ovary(1)|skin(1)	2						TGAAAGAGACTGTGCAGCTCT	0.413													G	25004701	T	G	25004701	2	3	90	1	0	0	0	0	0	0	0	1	9087	1567	55	5		5	LUZP2	11	25004701	Silent	SNP	T	TCGA-BR-8483-01A-31D-2394-08		25004701	110001815	84	58573											
OSBP	5007	broad.mit.edu	37	chr11	59377920	59377920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgtcacccagcgctgccGctcaacttctgaactagctt	9	16	3	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr11:59377920G>A	uc001noc.1	-	2	985	c.505C>T	c.(505-507)CGG>TGG	p.R169W		NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	169	PH.				lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CAGCGCTGCCGCTCAACTTCT	0.557													A	59377920	G	A	59377920	3	1	90	1	0	0	0	0	1	0	0	0	11273	1086	38	1	1970	1	OSBP	11	59377920	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	34373219	59377920	75628596	85	58574											
ODZ4	26011	broad.mit.edu	37	chr11	78381504	78381504	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtctctagtgtctgccgCgccacgttgggcatcgtcac	12	13	3	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr11:78381504C>T	uc001ozl.3	-	32	6349	c.5886G>A	c.(5884-5886)GCG>GCA	p.A1962A	ODZ4_uc001ozk.3_Silent_p.A187A|ODZ4_uc009yvb.1_Silent_p.A546A	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1962	YD 7.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GTGTCTGCCGCGCCACGTTGG	0.542													T	78381504	C	T	78381504	2	4	90	1	0	0	0	0	0	0	0	1	10837	755	27	1		1	ODZ4	11	78381504	Silent	SNP	C	TCGA-BR-8483-01A-31D-2394-08	19003584	78381504	56625012	86	58575											
SYTL2	54843	broad.mit.edu	37	chr11	85445087	85445087	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catagactgtggtcttgcagTtaaaacttctgaatgagaat	9	6	2	3			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr11:85445087T>A	uc010rth.1	-	6	1558	c.1282A>T	c.(1282-1284)ACT>TCT	p.T428S	SYTL2_uc010rtg.1_Missense_Mutation_p.T429S|SYTL2_uc010rti.1_Missense_Mutation_p.T428S|SYTL2_uc010rtj.1_Missense_Mutation_p.T380S|SYTL2_uc001pbf.3_Missense_Mutation_p.T428S|SYTL2_uc010rtf.1_Missense_Mutation_p.T286S	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	428					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GGTCTTGCAGTTAAAACTTCT	0.388													A	85445087	T	A	85445087	3	1	90	1	0	0	0	0	1	0	0	0	15480	1725	60	5	4055	5	SYTL2	11	85445087	Missense_Mutation	SNP	T	TCGA-BR-8483-01A-31D-2394-08	7063583	85445087	49561429	87	58576											
DDX10	1662	broad.mit.edu	37	chr11	108709278	108709278	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaataagaagataacatttActgatgaaggggaggtaaga	12	2	0	6			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr11:108709278A>T	uc001pkm.2	+	14	2136	c.2071A>T	c.(2071-2073)ACT>TCT	p.T691S	DDX10_uc001pkl.1_Missense_Mutation_p.T691S	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	691							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|lung(1)|prostate(1)	4		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GATAACATTTACTGATGAAGG	0.333			T	NUP98	AML*								T	108709278	A	T	108709278	3	4	90	1	0	0	0	0	1	0	0	0	4342	391	14	5	2125	5	DDX10	11	108709278	Missense_Mutation	SNP	A	TCGA-BR-8483-01A-31D-2394-08	23264191	108709278	26297238	88	58577											
OR10G9	219870	broad.mit.edu	37	chr11	123894262	123894262	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactatttgtgtgatgcaccGcccatcctgaaactggcctg	9	13	0	2	rs139965523		TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr11:123894262G>A	uc010sad.1	+	1	543	c.543G>A	c.(541-543)CCG>CCA	p.P181P		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G,	181	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTGATGCACCGCCCATCCTGA	0.542													A	123894262	G	A	123894262	2	1	90	1	0	0	0	0	0	0	0	1	10904	1074	38	1		1	OR10G9	11	123894262	Silent	SNP	G	TCGA-BR-8483-01A-31D-2394-08	15184984	123894262	11112254	89	58578											
DCPS	28960	broad.mit.edu	37	chr11	126174022	126174023	+	Missense_Mutation	DNP	AC	AC	CG													caagaggaagcgcgaattggAcgtggaggaggcccacgccg					rs141030550		TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr11:126174022_126174023AC>CG	uc001qdp.2	+	1	376_377	c.47_48AC>CG	c.(46-48)GAC>GCG	p.D16A		NM_014026	NP_054745	Q96C86	DCPS_HUMAN	mRNA decapping enzyme	16					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		CGCGAATTGGACGTGGAGGAGG	0.663													CG	126174023	AC	CG	126174022	3	2	90	1	0	0	0	0	1	0	0	0	4301	275	10	5	49	5	DCPS	11	126174022	Missense_Mutation	DNP	AC	TCGA-BR-8483-01A-31D-2394-08	2279760	126174022	8832494	90	58579											
CACNA1C	775	broad.mit.edu	37	chr12	2797944	2797944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagcagcctggtggaagCggtaggtgactcgcagatgg	17	9	0	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr12:2797944C>T	uc009zdu.1	+	49	6678	c.6365C>T	c.(6364-6366)GCG>GTG	p.A2122V	CACNA1C_uc009zdv.1_Missense_Mutation_p.A2036V|CACNA1C_uc001qkb.2_Missense_Mutation_p.A2039V|CACNA1C_uc001qkc.2_Missense_Mutation_p.A2058V|CACNA1C_uc001qke.2_Missense_Mutation_p.A2028V|CACNA1C_uc001qkf.2_Missense_Mutation_p.A2047V|CACNA1C_uc001qjz.2_Missense_Mutation_p.A2039V|CACNA1C_uc001qkd.2_Missense_Mutation_p.A2058V|CACNA1C_uc001qkg.2_Missense_Mutation_p.A2045V|CACNA1C_uc009zdw.1_Missense_Mutation_p.A2080V|CACNA1C_uc001qkh.2_Missense_Mutation_p.A2047V|CACNA1C_uc001qkl.2_Missense_Mutation_p.A2087V|CACNA1C_uc001qkn.2_Missense_Mutation_p.A2039V|CACNA1C_uc001qko.2_Missense_Mutation_p.A2059V|CACNA1C_uc001qkp.2_Missense_Mutation_p.A2039V|CACNA1C_uc001qkr.2_Missense_Mutation_p.A2056V|CACNA1C_uc001qku.2_Missense_Mutation_p.A2074V|CACNA1C_uc001qkq.2_Missense_Mutation_p.A2067V|CACNA1C_uc001qks.2_Missense_Mutation_p.A2039V|CACNA1C_uc001qkt.2_Missense_Mutation_p.A2058V|CACNA1C_uc001qki.1_Missense_Mutation_p.A1846V|CACNA1C_uc001qkj.1_Missense_Mutation_p.A1810V|CACNA1C_uc001qkk.1_Missense_Mutation_p.A1775V|CACNA1C_uc001qkm.1_Missense_Mutation_p.A1835V|CACNA1C_uc010sea.1_Missense_Mutation_p.A730V|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.A357V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	2122	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTGGTGGAAGCGGTAGGTGAC	0.682													T	2797944	C	T	2797944	3	4	90	1	0	0	0	0	1	0	0	0	2540	782	27	1	7007	1	CACNA1C	12	2797944	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08		2797944	131053951	91	58580											
PHB2	11331	broad.mit.edu	37	chr12	7076368	7076368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgggctgctcgaatcttgCgaagtttgatgtagccaggg	14	8	2	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr12:7076368C>T	uc001qsd.2	-	7	965	c.755G>A	c.(754-756)CGC>CAC	p.R252H	PHB2_uc010sft.1_Missense_Mutation_p.R214H|PHB2_uc001qse.1_RNA|PHB2_uc001qsf.1_RNA|PHB2_uc009zfn.1_RNA	NM_001144831	NP_001138303	Q99623	PHB2_HUMAN	prohibitin 2 isoform 1	252					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						TCGAATCTTGCGAAGTTTGAT	0.532													T	7076368	C	T	7076368	3	4	90	1	0	0	0	0	1	0	0	0	11815	768	27	1	156	1	PHB2	12	7076368	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	4278424	7076368	126775527	92	58581											
LIMA1	51474	broad.mit.edu	37	chr12	50598452	50598452	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttcgtctactctcatttttCtccgagtcaaatgtagaaga	6	9	4	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr12:50598452C>A	uc001rwj.3	-	6	921	c.747G>T	c.(745-747)GAG>GAT	p.E249D	LIMA1_uc001rwg.3_5'Flank|LIMA1_uc001rwh.3_Missense_Mutation_p.E89D|LIMA1_uc001rwi.3_Missense_Mutation_p.E89D|LIMA1_uc001rwk.3_Missense_Mutation_p.E249D|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1 isoform b	249					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			ovary(1)	1						TCTCATTTTTCTCCGAGTCAA	0.338													A	50598452	C	A	50598452	3	1	90	1	0	0	0	0	1	0	0	0	8796	912	32	5	1559	5	LIMA1	12	50598452	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	43522084	50598452	83253443	93	58582											
SCN8A	6334	broad.mit.edu	37	chr12	52188352	52188352	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtgtgctcaaaatgttTgcgttgaggcactactactt	11	7	1	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr12:52188352T>G	uc001ryw.2	+	26	4900	c.4722T>G	c.(4720-4722)TTT>TTG	p.F1574L		NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	1574	IV.|Helical; Name=S2 of repeat IV; (Potential).				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCAAAATGTTTGCGTTGAGGC	0.483													G	52188352	T	G	52188352	3	3	90	1	0	0	0	0	1	0	0	0	13924	1809	63	5	4820	5	SCN8A	12	52188352	Missense_Mutation	SNP	T	TCGA-BR-8483-01A-31D-2394-08	1589900	52188352	81663543	94	58583											
NAV3	89795	broad.mit.edu	37	chr12	78415601	78415601	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctacaaagatggacttatCatatagtaagactgctaagc	7	8	1	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr12:78415601C>T	uc001syp.2	+	9	2155	c.1982C>T	c.(1981-1983)TCA>TTA	p.S661L	NAV3_uc001syo.2_Missense_Mutation_p.S661L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	661						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						ATGGACTTATCATATAGTAAG	0.423										HNSCC(70;0.22)			T	78415601	C	T	78415601	3	4	90	1	0	0	0	0	1	0	0	0	10185	838	29	4	2016	4	NAV3	12	78415601	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	26227249	78415601	55436294	95	58584											
ACACB	32	broad.mit.edu	37	chr12	109684073	109684073	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcggcaatgacatcaccttTcgcattggatcctttggccc	8	13	1	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr12:109684073T>G	uc001tob.2	+	39	5510	c.5391T>G	c.(5389-5391)TTT>TTG	p.F1797L	ACACB_uc001toc.2_Missense_Mutation_p.F1797L|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.F463L	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1797					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	ACATCACCTTTCGCATTGGAT	0.567													G	109684073	T	G	109684073	3	3	90	1	0	0	0	0	1	0	0	0	107	1780	62	5	5541	5	ACACB	12	109684073	Missense_Mutation	SNP	T	TCGA-BR-8483-01A-31D-2394-08	31268472	109684073	24167822	96	58585											
RPH3A	22895	broad.mit.edu	37	chr12	113303287	113303287	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggggtgaaccgctgcatacTgtgtggagaacagctgggga	17	7	0	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr12:113303287T>A	uc010syl.1	+	6	661	c.299T>A	c.(298-300)CTG>CAG	p.L100Q	RPH3A_uc001ttz.2_Missense_Mutation_p.L100Q|RPH3A_uc001tty.2_Missense_Mutation_p.L96Q|RPH3A_uc009zwe.1_Missense_Mutation_p.L96Q|RPH3A_uc010sym.1_Missense_Mutation_p.L51Q|RPH3A_uc001tua.2_5'Flank	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	100	RabBD.|FYVE-type.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CGCTGCATACTGTGTGGAGAA	0.527													A	113303287	T	A	113303287	3	1	90	1	0	0	0	0	1	0	0	0	13551	1580	55	5	313	5	RPH3A	12	113303287	Missense_Mutation	SNP	T	TCGA-BR-8483-01A-31D-2394-08	3619214	113303287	20548608	97	58586											
MED13L	23389	broad.mit.edu	37	chr12	116445251	116445251	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaatctttctccgtcccttGtttgcatttcttgttggctg	9	10	3	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr12:116445251G>T	uc001tvw.2	-	11	2258	c.2203C>A	c.(2203-2205)CAA>AAA	p.Q735K		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	735					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCCGTCCCTTGTTTGCATTTC	0.403													T	116445251	G	T	116445251	3	4	90	1	0	0	0	0	1	0	0	0	9431	1386	48	5	4513	5	MED13L	12	116445251	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	3141964	116445251	17406644	98	58587											
PSPC1	55269	broad.mit.edu	37	chr13	20346569	20346569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggaaacaactggagaaaGgttcttgacagtcaaggctg	12	6	2	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr13:20346569G>A	uc001uml.2	-	2	673	c.487C>T	c.(487-489)CTT>TTT	p.L163F	PSPC1_uc001umj.1_RNA|PSPC1_uc001umk.1_RNA	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	paraspeckle protein 1	163	RRM 2.|Sufficient for paraspeckles localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)	1		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		ACTGGAGAAAGGTTCTTGACA	0.493													A	20346569	G	A	20346569	3	1	90	1	0	0	0	0	1	0	0	0	12716	1000	35	4	1116	4	PSPC1	13	20346569	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08		20346569	94823309	99	58588											
MYO16	23026	broad.mit.edu	37	chr13	109617206	109617206	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgtttgtttagctttttggtGaataccatgaattcttgcct	8	7	1	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr13:109617206G>A	uc001vqt.1	+	20	2385	c.2259G>A	c.(2257-2259)GTG>GTA	p.V753V	MYO16_uc010agk.1_Silent_p.V775V|MYO16_uc001vqu.1_Silent_p.V553V|MYO16_uc010tjh.1_Silent_p.V265V	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	753	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCTTTTTGGTGAATACCATGA	0.398													A	109617206	G	A	109617206	2	1	90	1	0	0	0	0	0	0	0	1	10064	1277	45	4		4	MYO16	13	109617206	Silent	SNP	G	TCGA-BR-8483-01A-31D-2394-08	89270637	109617206	5552672	100	58589											
MDGA2	161357	broad.mit.edu	37	chr14	47426671	47426671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggaaagactcttcacagcGtactctgtgtattcctgaga	9	9	3	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr14:47426671G>A	uc001wwj.3	-	9	1984	c.1788C>T	c.(1786-1788)TAC>TAT	p.Y596Y	MDGA2_uc001wwi.3_Silent_p.Y367Y|MDGA2_uc010ani.2_Silent_p.Y156Y	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	596	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						TCTTCACAGCGTACTCTGTGT	0.443													A	47426671	G	A	47426671	2	1	90	1	0	0	0	0	0	0	0	1	9407	1140	40	1		1	MDGA2	14	47426671	Silent	SNP	G	TCGA-BR-8483-01A-31D-2394-08		47426671	59922869	101	58590											
TTLL5	23093	broad.mit.edu	37	chr14	76165590	76165590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtggcatcttcaagggggCggggcgtctacctgatcaac	14	11	4	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr14:76165590C>T	uc001xrx.2	+	7	767	c.562C>T	c.(562-564)CGG>TGG	p.R188W	TTLL5_uc001xrw.1_Missense_Mutation_p.R188W|TTLL5_uc010ask.1_Missense_Mutation_p.R188W|TTLL5_uc001xry.1_RNA	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	188	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTCAAGGGGGCGGGGCGTCTA	0.438													T	76165590	C	T	76165590	3	4	90	1	0	0	0	0	1	0	0	0	16727	759	27	1	584	1	TTLL5	14	76165590	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	28738919	76165590	31183950	102	58591											
AHNAK2	113146	broad.mit.edu	37	chr14	105412999	105412999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcgggggccgtcacctccGccttggggcctttcaggtcc	14	16	2	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr14:105412999G>A	uc010axc.1	-	7	8909	c.8789C>T	c.(8788-8790)GCG>GTG	p.A2930V	AHNAK2_uc001ypx.2_Missense_Mutation_p.A2830V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2930						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)			CGTCACCTCCGCCTTGGGGCC	0.642													A	105412999	G	A	105412999	3	1	90	1	0	0	0	0	1	0	0	0	415	1087	38	1	8602	1	AHNAK2	14	105412999	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	29247409	105412999	1936541	103	58592											
ATP8B4	79895	broad.mit.edu	37	chr15	50152665	50152665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttttgagccttctgccacCggcggatctggagagaaaca	11	11	3	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr15:50152665C>T	uc001zxu.2	-	28	3447	c.3305G>A	c.(3304-3306)CGG>CAG	p.R1102Q	ATP8B4_uc010ber.2_Missense_Mutation_p.R975Q|ATP8B4_uc010ufd.1_Missense_Mutation_p.R912Q|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Missense_Mutation_p.R105Q	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	1102	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTTCTGCCACCGGCGGATCTG	0.502													T	50152665	C	T	50152665	3	4	90	1	0	0	0	0	1	0	0	0	1197	652	23	1	277	1	ATP8B4	15	50152665	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08		50152665	52378727	104	58593											
SYNGR3	9143	broad.mit.edu	37	chr16	2043051	2043051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggacaccagccccaaagGgtaccaggtgcccgcctact	10	17	0	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr16:2043051G>A	uc002cod.2	+	4	804	c.668G>A	c.(667-669)GGG>GAG	p.G223E		NM_004209	NP_004200	O43761	SNG3_HUMAN	synaptogyrin 3	223					positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle					0						AGCCCCAAAGGGTACCAGGTG	0.701													A	2043051	G	A	2043051	3	1	90	1	0	0	0	0	1	0	0	0	15447	1232	43	4	682	4	SYNGR3	16	2043051	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08		2043051	88311702	105	58594											
ATMIN	23300	broad.mit.edu	37	chr16	81075923	81075926	+	Frame_Shift_Del	DEL	GTAG	GTAG	-													tgctgagaagaagcacaaatGtagtaagtgcagcaattcgt							TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr16:81075922_81075925TGTAG>T	uc002ffz.1	+	2	517_520	c.499_502TGTAG>T	c.(499-504)tgtagtfs	p.C167fs	ATMIN_uc002fga.2_Frame_Shift_Del_p.C9fs|ATMIN_uc010vnn.1_Intron|ATMIN_uc002fgb.1_Frame_Shift_Del_p.C9fs	NM_015251	NP_056066	O43313	ATMIN_HUMAN	Homo sapiens ATM interactor (ATMIN), mRNA.	167					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GAAGCACAAATGTAGTAAGTGCAG	0.475													-	81075926	GTAG	-	81075923	7	5	90	1	0	1	0	1	0	0	0	0	1110	1377	48	0	510	0	ATMIN	16	81075923	Frame_Shift_Del	DEL	GTAG	TCGA-BR-8483-01A-31D-2394-08	79032872	81075923	9278830	106	58595											
TP53	7157	broad.mit.edu	37	chr17	7579311	7579311	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccctcagggcaactgaCcgtgcaagtcacagacttgg	11	14	2	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr17:7579311C>T	uc002gim.2	-	4	569	c.375_splice	c.e4+1	p.T125_splice	TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.2_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site_p.T86_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(11)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGCAACTGACCGTGCAAGTC	0.532		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7579311	C	T	7579311	5	4	90	1	0	0	0	0	0	0	1	0	16378	521	18	4	926	4	TP53	17	7579311	Splice_Site	SNP	C	TCGA-BR-8483-01A-31D-2394-08		7579311	73615899	107	58596											
MYH13	8735	broad.mit.edu	37	chr17	10209864	10209864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctgcaggtccttcaccGtctgctccaggttcttcttc	10	14	4	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr17:10209864G>A	uc002gmk.1	-	37	5468	c.5378C>T	c.(5377-5379)ACG>ATG	p.T1793M		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1793	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GTCCTTCACCGTCTGCTCCAG	0.552													A	10209864	G	A	10209864	3	1	90	1	0	0	0	0	1	0	0	0	10032	1145	40	1	458	1	MYH13	17	10209864	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	2630553	10209864	70985346	108	58597											
MYH13	8735	broad.mit.edu	37	chr17	10243522	10243522	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acaaagtgagggtgggtgctCcttaagttagtcatcaattt	11	6	2	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr17:10243522C>A	uc002gmk.1	-	18	2091	c.2001G>T	c.(1999-2001)AGG>AGT	p.R667S		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	667	Myosin head-like.|Actin-binding (By similarity).				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GGTGGGTGCTCCTTAAGTTAG	0.418													A	10243522	C	A	10243522	3	1	90	1	0	0	0	0	1	0	0	0	10032	854	30	5	3911	5	MYH13	17	10243522	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	33658	10243522	70951688	109	58598											
RAI1	10743	broad.mit.edu	37	chr17	17697280	17697280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtactaccagaccttcagcCccagctccagccactcaccc	5	20	2	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr17:17697280C>T	uc002grm.2	+	3	1487	c.1018C>T	c.(1018-1020)CCC>TCC	p.P340S	RAI1_uc002grn.1_Missense_Mutation_p.P340S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	340						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GACCTTCAGCCCCAGCTCCAG	0.637													T	17697280	C	T	17697280	3	4	90	1	0	0	0	0	1	0	0	0	13007	623	22	4	1020	4	RAI1	17	17697280	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	7453758	17697280	63497930	110	58599											
ACACA	31	broad.mit.edu	37	chr17	35567388	35567388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacatacggtacctgtttaGcgtagggatgttccctctgt	10	9	1	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr17:35567388G>A	uc002hnm.2	-	30	3780	c.3589C>T	c.(3589-3591)CTA>TTA	p.L1197L	ACACA_uc002hnk.2_Silent_p.L1119L|ACACA_uc002hnl.2_Silent_p.L1139L|ACACA_uc002hnn.2_Silent_p.L1197L|ACACA_uc002hno.2_Silent_p.L1234L	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1197					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TACCTGTTTAGCGTAGGGATG	0.343													A	35567388	G	A	35567388	2	1	90	1	0	0	0	0	0	0	0	1	106	962	34	2		2	ACACA	17	35567388	Silent	SNP	G	TCGA-BR-8483-01A-31D-2394-08	17870108	35567388	45627822	111	58600											
KRT39	390792	broad.mit.edu	37	chr17	39116589	39116589	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaatctcacattccagccgGgacttgacgtccagcaggat	10	12	1	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr17:39116589G>T	uc002hvo.1	-	6	1197	c.1161C>A	c.(1159-1161)TCC>TCA	p.S387S	KRT39_uc010wfm.1_Silent_p.S120S	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	387	Coil 2.|Rod.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)				ATTCCAGCCGGGACTTGACGT	0.478													T	39116589	G	T	39116589	2	4	90	1	0	0	0	0	0	0	0	1	8476	1219	43	5		5	KRT39	17	39116589	Silent	SNP	G	TCGA-BR-8483-01A-31D-2394-08	3549201	39116589	42078621	112	58601											
BZRAP1	9256	broad.mit.edu	37	chr17	56399716	56399716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttctcccgtaggctgagccGagcctgttcatgctccacct	9	16	2	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr17:56399716G>A	uc002ivx.3	-	10	2246	c.1375C>T	c.(1375-1377)CGG>TGG	p.R459W	BZRAP1_uc010dcs.2_Missense_Mutation_p.R399W|BZRAP1_uc010wnt.1_Missense_Mutation_p.R459W	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	459						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGCTGAGCCGAGCCTGTTCA	0.637													A	56399716	G	A	56399716	3	1	90	1	0	0	0	0	1	0	0	0	1577	1057	37	1	4286	1	BZRAP1	17	56399716	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	17283127	56399716	24795494	113	58602											
TRIM37	4591	broad.mit.edu	37	chr17	57109355	57109364	+	Frame_Shift_Del	DEL	AATGGATCAA	AATGGATCAA	-													ccaacaaatgtattaaaattAatggatcaatgtctagtaaa							TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr17:57109354_57109363TAATGGATCAA>T	uc002iwy.4	-	17	2286_2295	c.1842_1851TTGATCCATTA>A	c.(1840-1851)attgatccattafs	p.I614fs	TRIM37_uc002iwz.4_Frame_Shift_Del_p.I614fs|TRIM37_uc002ixa.4_Frame_Shift_Del_p.I492fs|TRIM37_uc010woc.2_Frame_Shift_Del_p.I580fs	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	614						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GTATTAAAATTAATGGATCAATGTCTAGTA	0.438									Mulibrey Nanism				-	57109364	AATGGATCAA	-	57109355	7	5	90	1	0	1	0	1	0	0	0	0	16508	372	13	0	1080	0	TRIM37	17	57109355	Frame_Shift_Del	DEL	AATGGATCAA	TCGA-BR-8483-01A-31D-2394-08	709639	57109355	24085855	114	58603											
LAMA3	3909	broad.mit.edu	37	chr18	21531699	21531699	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggacctcaacgtcggtcacaCcaaagcagtctctgtgtgat	10	12	3	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr18:21531699C>G	uc002kuq.2	+	73	9780	c.9694C>G	c.(9694-9696)CCA>GCA	p.P3232A	LAMA3_uc002kur.2_Missense_Mutation_p.P3176A|LAMA3_uc002kus.3_Missense_Mutation_p.P1623A|LAMA3_uc002kut.3_Missense_Mutation_p.P1567A	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	3232	Laminin G-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCGGTCACACCAAAGCAGTC	0.527													G	21531699	C	G	21531699	3	3	90	1	0	0	0	0	1	0	0	0	8607	507	18	5	10159	5	LAMA3	18	21531699	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08		21531699	56545549	115	58604											
TJP3	27134	broad.mit.edu	37	chr19	3746813	3746813	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacgagtgacacctggtaccAggagctcaaggccatcattc	10	13	2	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr19:3746813A>T	uc010xhv.1	+	17	2360	c.2360A>T	c.(2359-2361)CAG>CTG	p.Q787L	TJP3_uc010xhs.1_Missense_Mutation_p.Q754L|TJP3_uc010xht.1_Missense_Mutation_p.Q718L|TJP3_uc010xhu.1_Missense_Mutation_p.Q763L|TJP3_uc010xhw.1_Missense_Mutation_p.Q773L	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	768	Guanylate kinase-like.					tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTGGTACCAGGAGCTCAAG	0.662													T	3746813	A	T	3746813	3	4	90	1	0	0	0	0	1	0	0	0	15928	188	7	5	2426	5	TJP3	19	3746813	Missense_Mutation	SNP	A	TCGA-BR-8483-01A-31D-2394-08		3746813	55382170	116	58605											
FUT3	2525	broad.mit.edu	37	chr19	5844835	5844835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccattgtggcttggctgCacccaggggatccatgggtc	15	11	0	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr19:5844835C>T	uc002mdk.2	-	2	113	c.16G>A	c.(16-18)GCA>ACA	p.A6T	FUT3_uc002mdm.2_Missense_Mutation_p.A6T|FUT3_uc002mdj.2_Missense_Mutation_p.A6T|FUT3_uc002mdl.2_Missense_Mutation_p.A6T|uc002mdn.2_5'Flank	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	fucosyltransferase 3	6	Cytoplasmic (Potential).				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity				0						GGCTTGGCTGCACCCAGGGGA	0.572													T	5844835	C	T	5844835	3	4	90	1	0	0	0	0	1	0	0	0	6105	710	25	2	1073	2	FUT3	19	5844835	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	2098022	5844835	53284148	117	58606											
MUC16	94025	broad.mit.edu	37	chr19	9074307	9074307	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtcactcctgaagattctGtcattatcagagaggtggag	12	7	4	3			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr19:9074307G>T	uc002mkp.2	-	3	13343	c.13139C>A	c.(13138-13140)ACA>AAA	p.T4380K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4382	Thr-rich.|Extracellular (Potential).|Ser-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGAAGATTCTGTCATTATCAG	0.468													T	9074307	G	T	9074307	3	4	90	1	0	0	0	0	1	0	0	0	9973	1377	48	5	30712	5	MUC16	19	9074307	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	3229472	9074307	50054676	118	58607											
S1PR5	53637	broad.mit.edu	37	chr19	10624548	10624548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgggtgcaccggggctGcctgtggagccgctggtgtc	19	11	0	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr19:10624548G>A	uc002mot.1	-	2	1197	c.1140C>T	c.(1138-1140)GGC>GGT	p.G380G	S1PR5_uc002mou.1_Silent_p.G380G	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN	endothelial differentiation, sphingolipid	380	Cytoplasmic (By similarity).					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|pancreas(1)	2						CACCGGGGCTGCCTGTGGAGC	0.682													A	10624548	G	A	10624548	2	1	90	1	0	0	0	0	0	0	0	1	13797	1306	46	2		2	S1PR5	19	10624548	Silent	SNP	G	TCGA-BR-8483-01A-31D-2394-08	1550241	10624548	48504435	119	58608											
LRRC4B	94030	broad.mit.edu	37	chr19	51021504	51021504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggtctccacggtcaccGtggtgaagtaggtgtagccg	15	11	2	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr19:51021504G>A	uc002pss.2	-	3	1603	c.1466C>T	c.(1465-1467)ACG>ATG	p.T489M		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	489	Gly-rich.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CACGGTCACCGTGGTGAAGTA	0.433													A	51021504	G	A	51021504	3	1	90	1	0	0	0	0	1	0	0	0	9007	1145	40	1	679	1	LRRC4B	19	51021504	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	40396956	51021504	8107479	120	58609											
ZNF134	7693	broad.mit.edu	37	chr19	58132648	58132648	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttatcagaacctcccacctTgttcgacaccaaagagttca	5	13	2	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr19:58132648T>C	uc002qpn.2	+	3	1260	c.1161T>C	c.(1159-1161)CTT>CTC	p.L387L	ZNF134_uc002qpo.2_Silent_p.L214L|ZNF211_uc010yhb.1_5'UTR	NM_003435	NP_003426	P52741	ZN134_HUMAN	zinc finger protein 134	387	C2H2-type 10.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CCTCCCACCTTGTTCGACACC	0.483													C	58132648	T	C	58132648	2	2	90	1	0	0	0	0	0	0	0	1	17721	1799	63	3		3	ZNF134	19	58132648	Silent	SNP	T	TCGA-BR-8483-01A-31D-2394-08	7111144	58132648	996335	121	58610											
TBC1D20	128637	broad.mit.edu	37	chr20	419300	419300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccacagccagtgcagccGctccaagtgccactgtcagc	9	17	2	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr20:419300G>A	uc002wds.2	-	8	1280	c.1142C>T	c.(1141-1143)GCG>GTG	p.A381V	TBC1D20_uc002wdv.2_Missense_Mutation_p.A204V|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	381	Helical; (Potential).				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)	1		all_epithelial(17;0.228)|Breast(17;0.231)				CAGTGCAGCCGCTCCAAGTGC	0.537													A	419300	G	A	419300	3	1	90	1	0	0	0	0	1	0	0	0	15606	1087	38	1	73	1	TBC1D20	20	419300	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08		419300	62606220	122	58611											
SNPH	9751	broad.mit.edu	37	chr20	1281207	1281207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgggcgtccccttgcaggCgctccatgaaatacacgctg	12	13	0	1	rs139099290		TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr20:1281207C>T	uc002wes.2	+	5	396	c.160C>T	c.(160-162)CGC>TGC	p.R54C	SNPH_uc002wet.2_Missense_Mutation_p.R98C	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	54					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						CCCTTGCAGGCGCTCCATGAA	0.622													T	1281207	C	T	1281207	3	4	90	1	0	0	0	0	1	0	0	0	14850	782	27	1	170	1	SNPH	20	1281207	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	861907	1281207	61744313	123	58612											
PDYN	5173	broad.mit.edu	37	chr20	1961277	1961277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccagtctccatggcaccatCgttcagctgggcatccctca	9	16	3	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr20:1961277C>T	uc010gaj.2	-	3	699	c.457G>A	c.(457-459)GAT>AAT	p.D153N	uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.D153N|PDYN_uc010zpt.1_5'UTR	NM_024411	NP_077722	P01213	PDYN_HUMAN	beta-neoendorphin-dynorphin preproprotein	153					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			upper_aerodigestive_tract(1)|ovary(1)	2						ATGGCACCATCGTTCAGCTGG	0.572													T	1961277	C	T	1961277	3	4	90	1	0	0	0	0	1	0	0	0	11699	884	31	1	311	1	PDYN	20	1961277	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	680070	1961277	61064243	124	58613											
RALY	22913	broad.mit.edu	37	chr20	32661668	32661668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actaccgggacgacttctacGacaggtgagcaggggagggg	17	9	1	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr20:32661668G>A	uc002xab.2	+	5	671	c.373G>A	c.(373-375)GAC>AAC	p.D125N	RALY_uc010zui.1_Missense_Mutation_p.D125N|RALY_uc002xac.2_Intron|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.D125N	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	RNA binding protein (autoantigenic,	125						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(1)	1						CGACTTCTACGACAGGTGAGC	0.383													A	32661668	G	A	32661668	3	1	90	1	0	0	0	0	1	0	0	0	13019	1058	37	1	383	1	RALY	20	32661668	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	30700391	32661668	30363852	125	58614											
EPB41L1	2036	broad.mit.edu	37	chr20	34766563	34766563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttttagaactggctggaCccctccaaggagatcaagaa	9	10	2	3			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr20:34766563C>T	uc002xfb.2	+	5	630	c.459C>T	c.(457-459)GAC>GAT	p.D153D	EPB41L1_uc002xeu.2_Silent_p.D91D|EPB41L1_uc010zvo.1_Silent_p.D153D|EPB41L1_uc002xev.2_Silent_p.D153D|EPB41L1_uc002xew.2_Silent_p.D56D|EPB41L1_uc002xex.2_Silent_p.D122D|EPB41L1_uc002xey.2_Silent_p.D153D|EPB41L1_uc002xez.2_Silent_p.D91D	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	153	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					ACTGGCTGGACCCCTCCAAGG	0.532													T	34766563	C	T	34766563	2	4	90	1	0	0	0	0	0	0	0	1	5152	506	18	4		4	EPB41L1	20	34766563	Silent	SNP	C	TCGA-BR-8483-01A-31D-2394-08	2104895	34766563	28258957	126	58615											
PTPRT	11122	broad.mit.edu	37	chr20	40944604	40944604	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctccgtgacttctgaAgtcgctcctccttgacaacc	7	17	1	3			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr20:40944604A>C	uc002xkg.2	-	12	2082	c.1898T>G	c.(1897-1899)CTT>CGT	p.L633R	PTPRT_uc010ggj.2_Missense_Mutation_p.L633R	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	633	Extracellular (Potential).|Fibronectin type-III 4.				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)				TGACTTCTGAAGTCGCTCCTC	0.488													C	40944604	A	C	40944604	3	2	90	1	0	0	0	0	1	0	0	0	12812	72	3	5	2568	5	PTPRT	20	40944604	Missense_Mutation	SNP	A	TCGA-BR-8483-01A-31D-2394-08	6178041	40944604	22080916	127	58616											
R3HDML	140902	broad.mit.edu	37	chr20	42966005	42966005	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaatgccttactggattatCacaaccacatccgggccagt	8	12	1	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr20:42966005C>A	uc002xls.1	+	1	380	c.208C>A	c.(208-210)CAC>AAC	p.H70N		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like precursor	70						extracellular region	peptidase inhibitor activity				0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			ACTGGATTATCACAACCACAT	0.622													A	42966005	C	A	42966005	3	1	90	1	0	0	0	0	1	0	0	0	12889	826	29	5	210	5	R3HDML	20	42966005	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	2021401	42966005	20059515	128	58617											
KCNG1	3755	broad.mit.edu	37	chr20	49620679	49620679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaggaactgcgccctcCggaacatcaccctctcttgc	9	15	2	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr20:49620679C>T	uc002xwa.3	-	3	1734	c.1439G>A	c.(1438-1440)CGG>CAG	p.R480Q		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	480	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						CTGCGCCCTCCGGAACATCAC	0.572													T	49620679	C	T	49620679	3	4	90	1	0	0	0	0	1	0	0	0	8027	652	23	1	106	1	KCNG1	20	49620679	Missense_Mutation	SNP	C	TCGA-BR-8483-01A-31D-2394-08	6654674	49620679	13404841	129	58618											
GNAS	2778	broad.mit.edu	37	chr20	57428581	57428581	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaacccggcattcagggaAgctggagcccatggaagcta	12	12	2	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr20:57428581A>C	uc002xzw.2	+	1	546	c.261A>C	c.(259-261)GAA>GAC	p.E87D	GNASAS_uc002xzs.1_5'Flank|GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CATTCAGGGAAGCTGGAGCCC	0.612			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			C	57428581	A	C	57428581	3	2	90	1	0	0	0	0	1	0	0	0	6510	72	3	5	1005	5	GNAS	20	57428581	Missense_Mutation	SNP	A	TCGA-BR-8483-01A-31D-2394-08	7807902	57428581	5596939	130	58619											
COL6A2	1292	broad.mit.edu	37	chr21	47552191	47552191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacgccatcaatgccatcGtgcgcagcccgcgtggcggg	14	15	1	0	rs145527336	by1000genomes	TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr21:47552191G>A	uc002zia.1	+	28	2867	c.2785G>A	c.(2785-2787)GTG>ATG	p.V929M	COL6A2_uc002zib.1_Missense_Mutation_p.V335M|COL6A2_uc002zic.1_Silent_p.S3S|COL6A2_uc010gqe.1_RNA	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	929	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAATGCCATCGTGCGCAGCCC	0.667													A	47552191	G	A	47552191	3	1	90	1	0	0	0	0	1	0	0	0	3700	1145	40	1	3221	1	COL6A2	21	47552191	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08		47552191	577704	131	58620											
PCNT	5116	broad.mit.edu	37	chr21	47858216	47858216	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtctaagcttgagaagttgcTgaagcaccatctgcagaagg	12	8	2	3			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr21:47858216T>A	uc002zji.3	+	41	9346	c.9239T>A	c.(9238-9240)CTG>CAG	p.L3080Q	PCNT_uc002zjj.2_Missense_Mutation_p.L2883Q	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	3080	Interaction with NEK2.|Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GAGAAGTTGCTGAAGCACCAT	0.557													A	47858216	T	A	47858216	3	1	90	1	0	0	0	0	1	0	0	0	11590	1580	55	5	9401	5	PCNT	21	47858216	Missense_Mutation	SNP	T	TCGA-BR-8483-01A-31D-2394-08	306025	47858216	271679	132	58621											
RGL4	266747	broad.mit.edu	37	chr22	24034327	24034327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgtgggacgccagggcGcacgagggtctgtacagccc	16	12	2	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr22:24034327G>A	uc002zxn.2	+	1	1280	c.110G>A	c.(109-111)CGC>CAC	p.R37H	LOC91316_uc002zxh.3_RNA|LOC91316_uc002zxi.3_RNA|LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Missense_Mutation_p.R37H|RGL4_uc002zxp.1_5'UTR|RGL4_uc002zxq.2_5'UTR	NM_153615	NP_705843	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation	37					small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			ovary(1)	1						ACGCCAGGGCGCACGAGGGTC	0.612													A	24034327	G	A	24034327	3	1	90	1	0	0	0	0	1	0	0	0	13279	1087	38	1	112	1	RGL4	22	24034327	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08		24034327	27270239	133	58622											
MICALL1	85377	broad.mit.edu	37	chr22	38313789	38313789	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccactccagtggaaccagAagatgtggctcaggtaggca	12	11	1	2			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr22:38313789A>G	uc003aui.2	+	4	497	c.413A>G	c.(412-414)GAA>GGA	p.E138G		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13	138						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)					GTGGAACCAGAAGATGTGGCT	0.597													G	38313789	A	G	38313789	3	3	90	1	0	0	0	0	1	0	0	0	9573	246	9	3	427	3	MICALL1	22	38313789	Missense_Mutation	SNP	A	TCGA-BR-8483-01A-31D-2394-08	14279462	38313789	12990777	134	58623											
PICK1	9463	broad.mit.edu	37	chr22	38470942	38470942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actacaacgactgctacgcaGtgctgcgggatgccgacgtc	12	13	0	0			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr22:38470942G>A	uc003auq.2	+	13	1441	c.1051G>A	c.(1051-1053)GTG>ATG	p.V351M	PICK1_uc003aur.2_Missense_Mutation_p.V351M|PICK1_uc003aus.2_Missense_Mutation_p.V351M|PICK1_uc003aut.2_Missense_Mutation_p.V351M	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	protein interacting with C kinase 1	351	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding				0	Melanoma(58;0.045)					CTGCTACGCAGTGCTGCGGGA	0.587													A	38470942	G	A	38470942	3	1	90	1	0	0	0	0	1	0	0	0	11881	1029	36	4	1097	4	PICK1	22	38470942	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	157153	38470942	12833624	135	58624											
ADSL	158	broad.mit.edu	37	chr22	40745872	40745872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcacagatgaacaaatccagGagatgaaatcaaacctggag	9	8	2	4			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr22:40745872G>A	uc003ayp.3	+	2	249	c.190G>A	c.(190-192)GAG>AAG	p.E64K	ADSL_uc003ays.3_Missense_Mutation_p.E64K|ADSL_uc003ayq.3_Missense_Mutation_p.E64K|ADSL_uc003ayr.3_5'UTR|ADSL_uc003ayt.3_Missense_Mutation_p.E64K	NM_000026	NP_000017	P30566	PUR8_HUMAN	adenylosuccinate lyase isoform a	64					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			ovary(1)	1						ACAAATCCAGGAGATGAAATC	0.413													A	40745872	G	A	40745872	3	1	90	1	0	0	0	0	1	0	0	0	346	1175	41	4	196	4	ADSL	22	40745872	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	2274930	40745872	10558694	136	58625											
PANX2	56666	broad.mit.edu	37	chr22	50616205	50616205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgttctgcaacgagaaccGcgaccacatcaagtcgctca	8	14	3	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr22:50616205G>A	uc003bjn.3	+	2	1064	c.1064G>A	c.(1063-1065)CGC>CAC	p.R355H	PANX2_uc003bjp.3_Missense_Mutation_p.R221H|PANX2_uc003bjo.3_Missense_Mutation_p.R355H	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	355	Cytoplasmic (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		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)		AACGAGAACCGCGACCACATC	0.617													A	50616205	G	A	50616205	3	1	90	1	0	0	0	0	1	0	0	0	11421	1087	38	1	1070	1	PANX2	22	50616205	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08	9870333	50616205	688361	137	58626											
GLRA2	2742	broad.mit.edu	37	chrX	14708969	14708969	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgcctccgaagaagacagaaGaggcagaataaggtatgatt	12	7	0	6			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chrX:14708969G>T	uc010nep.2	+	9	1400	c.1068G>T	c.(1066-1068)AAG>AAT	p.K356N	GLRA2_uc010neq.2_Missense_Mutation_p.K356N|GLRA2_uc004cwe.3_Missense_Mutation_p.K356N|GLRA2_uc011mio.1_Missense_Mutation_p.K267N|GLRA2_uc011mip.1_Missense_Mutation_p.K334N	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	356	Cytoplasmic (Probable).				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(1)|lung(1)	2	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	GAAGACAGAAGAGGCAGAATA	0.468													T	14708969	G	T	14708969	3	4	90	1	0	0	0	0	1	0	0	0	6455	933	33	5	1170	5	GLRA2	23	14708969	Missense_Mutation	SNP	G	TCGA-BR-8483-01A-31D-2394-08		14708969	140561591	138	58627											
KIAA2022	340533	broad.mit.edu	37	chrX	73963017	73963017	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgagccatatagcgactacAgtccttgatctcacccatag	7	14	1	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chrX:73963017A>T	uc004eby.2	-	3	1992	c.1375T>A	c.(1375-1377)TGT>AGT	p.C459S		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	459					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						TAGCGACTACAGTCCTTGATC	0.473													T	73963017	A	T	73963017	3	4	90	1	0	0	0	0	1	0	0	0	8269	188	7	5	3183	5	KIAA2022	23	73963017	Missense_Mutation	SNP	A	TCGA-BR-8483-01A-31D-2394-08	59254048	73963017	81307543	139	58628											
FLNA	2316	broad.mit.edu	37	chrX	153586887	153586887	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggctgggcacataattgacGgtctgggtgccatcagcgtt	14	10	2	1			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chrX:153586887G>T	uc004fkk.2	-	27	4773	c.4524C>A	c.(4522-4524)ACC>ACA	p.T1508T	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.T1508T	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1508	Interaction with furin (By similarity).|Filamin 13.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATAATTGACGGTCTGGGTGC	0.607													T	153586887	G	T	153586887	2	4	90	1	0	0	0	0	0	0	0	1	5933	1103	39	5		5	FLNA	23	153586887	Silent	SNP	G	TCGA-BR-8483-01A-31D-2394-08	79623870	153586887	1683673	140	58629											
TAS1R3	83756	broad.mit.edu	37	chr1	1267838	1267838	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggctgacctctgacctggtCatggggctgcccggcatggc	15	13	2	2			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:1267838C>T	uc010nyk.1	+	3	927	c.927C>T	c.(925-927)GTC>GTT	p.V309V		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	309	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	CTGACCTGGTCATGGGGCTGC	0.672													T	1267838	C	T	1267838	2	4	91	1	0	0	0	0	0	0	0	1	15561	813	29	4		4	TAS1R3	1	1267838	Silent	SNP	C	TCGA-BR-8484-01A-11D-2394-08		1267838	247982783	1	58630											
C1orf174	339448	broad.mit.edu	37	chr1	3807161	3807161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcaacgtttccaaagaacCggctcacgggcattggctga	11	12	2	2			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:3807161C>T	uc001alf.2	-	3	697	c.590G>A	c.(589-591)CGG>CAG	p.R197Q	C1orf174_uc009vls.2_RNA	NM_207356	NP_997239	Q8IYL3	CA174_HUMAN	hypothetical protein LOC339448	197											0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		TCCAAAGAACCGGCTCACGGG	0.567													T	3807161	C	T	3807161	3	4	91	1	0	0	0	0	1	0	0	0	2015	652	23	1	149	1	C1orf174	1	3807161	Missense_Mutation	SNP	C	TCGA-BR-8484-01A-11D-2394-08	2539323	3807161	245443460	2	58631											
CASP9	842	broad.mit.edu	37	chr1	15831220	15831220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagggcatccatctgtgcCgtagacagcccctgggaact	11	14	1	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:15831220C>T	uc001awn.2	-	6	849	c.754G>A	c.(754-756)GGC>AGC	p.G252S	CASP9_uc001awm.1_Missense_Mutation_p.G252S|CASP9_uc001awo.2_Intron|CASP9_uc001awp.2_Missense_Mutation_p.G96S|CASP9_uc009voi.2_Missense_Mutation_p.G96S|CASP9_uc010obm.1_Missense_Mutation_p.G169S|CASP9_uc001awq.2_Missense_Mutation_p.G169S	NM_001229	NP_001220	P55211	CASP9_HUMAN	caspase 9 isoform alpha preproprotein	252					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(1)|kidney(1)	2		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		CCATCTGTGCCGTAGACAGCC	0.537													T	15831220	C	T	15831220	3	4	91	1	0	0	0	0	1	0	0	0	2679	652	23	1	512	1	CASP9	1	15831220	Missense_Mutation	SNP	C	TCGA-BR-8484-01A-11D-2394-08	12024059	15831220	233419401	3	58632											
SPEN	23013	broad.mit.edu	37	chr1	16262482	16262482	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacccccacccctgccccCgtccctgtccctgtccccct	4	28	0	0			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:16262482C>T	uc001axk.1	+	11	9951	c.9747C>T	c.(9745-9747)CCC>CCT	p.P3249P	SPEN_uc010obp.1_Silent_p.P3208P	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3249	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		cccctgcccccgtccctgtcc	0.408													T	16262482	C	T	16262482	2	4	91	1	0	0	0	0	0	0	0	1	15037	639	23	1		1	SPEN	1	16262482	Silent	SNP	C	TCGA-BR-8484-01A-11D-2394-08	431262	16262482	232988139	4	58633											
ERI3	79033	broad.mit.edu	37	chr1	44687311	44687311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcaatgttcttgcagtcGtctaaaaaggagagaagaca	11	6	2	2			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:44687311G>A	uc001clt.2	-	9	1174	c.933C>T	c.(931-933)GAC>GAT	p.D311D	ERI3_uc010okv.1_Silent_p.D134D|ERI3_uc009vxg.2_Silent_p.D339D|ERI3_uc010okw.1_Silent_p.D233D|ERI3_uc001clu.2_Missense_Mutation_p.T200M	NM_024066	NP_076971	O43414	ERI3_HUMAN	prion protein interacting protein	311	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding			ovary(2)|large_intestine(1)	3						TCTTGCAGTCGTCTAAAAAGG	0.522													A	44687311	G	A	44687311	2	1	91	1	0	0	0	0	0	0	0	1	5229	1159	40	1		1	ERI3	1	44687311	Silent	SNP	G	TCGA-BR-8484-01A-11D-2394-08	28424829	44687311	204563310	5	58634											
ELAVL4	1996	broad.mit.edu	37	chr1	50659546	50659546	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaacttttctcgcaatAcggccgtatcatcacctcac	7	14	4	0			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:50659546A>G	uc001csb.2	+	4	732	c.464A>G	c.(463-465)TAC>TGC	p.Y155C	ELAVL4_uc001cry.3_Missense_Mutation_p.Y158C|ELAVL4_uc001crz.3_Missense_Mutation_p.Y155C|ELAVL4_uc001csa.3_Missense_Mutation_p.Y172C|ELAVL4_uc001csc.3_Missense_Mutation_p.Y155C|ELAVL4_uc009vyu.2_Missense_Mutation_p.Y160C|ELAVL4_uc010omz.1_Missense_Mutation_p.Y160C	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	155	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						TTCTCGCAATACGGCCGTATC	0.468													G	50659546	A	G	50659546	3	3	91	1	0	0	0	0	1	0	0	0	5052	391	14	3	577	3	ELAVL4	1	50659546	Missense_Mutation	SNP	A	TCGA-BR-8484-01A-11D-2394-08	5972235	50659546	198591075	6	58635											
LPHN2	23266	broad.mit.edu	37	chr1	82456476	82456476	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtaccaaccccagaagaaaGtgaagtccgagggaactgac	11	10	0	4			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:82456476G>C	uc001dit.3	+	21	4040	c.3859G>C	c.(3859-3861)GTG>CTG	p.V1287L	LPHN2_uc001dis.2_Missense_Mutation_p.V267L|LPHN2_uc001diu.2_Missense_Mutation_p.V1287L|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.V914L	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1343	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CCAGAAGAAAGTGAAGTCCGA	0.532													C	82456476	G	C	82456476	3	2	91	1	0	0	0	0	1	0	0	0	8916	1029	36	5	3933	5	LPHN2	1	82456476	Missense_Mutation	SNP	G	TCGA-BR-8484-01A-11D-2394-08	31796930	82456476	166794145	7	58636											
LCE2A	353139	broad.mit.edu	37	chr1	152671675	152671675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggggctctggctgctgcCacagctctggggactgctgc	16	13	2	0			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:152671675C>T	uc001faj.2	+	2	349	c.298C>T	c.(298-300)CAC>TAC	p.H100Y		NM_178428	NP_848515	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	100	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCTGCTGCCACAGCTCTGG	0.602													T	152671675	C	T	152671675	3	4	91	1	0	0	0	0	1	0	0	0	8665	594	21	4	300	4	LCE2A	1	152671675	Missense_Mutation	SNP	C	TCGA-BR-8484-01A-11D-2394-08	70215199	152671675	96578946	8	58637											
FCRL3	115352	broad.mit.edu	37	chr1	157668421	157668421	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagcttttggggccaccccTaaacaggaaatagaaagatg	10	9	0	2			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:157668421T>G	uc001frb.2	-	4	345	c.53_splice	c.e4-1	p.G18_splice	FCRL3_uc001fqx.3_Splice_Site|FCRL3_uc001fqy.3_Splice_Site|FCRL3_uc001fqz.3_Splice_Site_p.G18_splice|FCRL3_uc009wsn.2_Splice_Site|FCRL3_uc009wso.2_Splice_Site|FCRL3_uc001fra.2_5'Flank|FCRL3_uc001frc.1_Splice_Site_p.G18_splice	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor							integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					GGGCCACCCCTAAACAGGAAA	0.502													G	157668421	T	G	157668421	5	3	91	1	0	0	0	0	0	0	1	0	5796	1536	53	5	2201	5	FCRL3	1	157668421	Splice_Site	SNP	T	TCGA-BR-8484-01A-11D-2394-08	4996746	157668421	91582200	9	58638											
OR10X1	128367	broad.mit.edu	37	chr1	158549445	158549445	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtctcagagaaggagAgtgcactaaggaagagatac	14	6	1	3			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:158549445A>G	uc010pin.1	-	1	245	c.245T>C	c.(244-246)CTC>CCC	p.L82P		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	82	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					AGAGAAGGAGAGTGCACTAAG	0.498													G	158549445	A	G	158549445	3	3	91	1	0	0	0	0	1	0	0	0	10922	304	11	3	730	3	OR10X1	1	158549445	Missense_Mutation	SNP	A	TCGA-BR-8484-01A-11D-2394-08	881024	158549445	90701176	10	58639											
OR6N2	81442	broad.mit.edu	37	chr1	158746982	158746982	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacaggaagccacaagtccaAcaagcagcagccatcttggc	9	14	1	0			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:158746982A>T	uc010pir.1	-	1	444	c.444T>A	c.(442-444)TGT>TGA	p.C148*		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	148	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)					CACAAGTCCAACAAGCAGCAG	0.483													T	158746982	A	T	158746982	4	4	91	1	0	0	0	0	0	1	0	0	11207	41	2	5	512	5	OR6N2	1	158746982	Nonsense_Mutation	SNP	A	TCGA-BR-8484-01A-11D-2394-08	197537	158746982	90503639	11	58640											
ATP1A4	480	broad.mit.edu	37	chr1	160136459	160136459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagaaccgcatgaccgtcGcccacatgtggtttgatatg	10	13	0	3	rs147875149	byFrequency	TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:160136459G>A	uc001fve.3	+	8	1668	c.1189G>A	c.(1189-1191)GCC>ACC	p.A397T	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'UTR	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	397	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATGACCGTCGCCCACATGTG	0.577													A	160136459	G	A	160136459	3	1	91	1	0	0	0	0	1	0	0	0	1131	1087	38	1	1219	1	ATP1A4	1	160136459	Missense_Mutation	SNP	G	TCGA-BR-8484-01A-11D-2394-08	1389477	160136459	89114162	12	58641											
TNR	7143	broad.mit.edu	37	chr1	175334354	175334354	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggggagatggatcactccaAgtgatgttcacactggagga	15	7	2	2			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:175334354A>G	uc001gkp.1	-	10	2460	c.2379T>C	c.(2377-2379)ACT>ACC	p.T793T	TNR_uc009wwu.1_Silent_p.T793T	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	793	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					GATCACTCCAAGTGATGTTCA	0.517													G	175334354	A	G	175334354	2	3	91	1	0	0	0	0	0	0	0	1	16335	59	3	3		3	TNR	1	175334354	Silent	SNP	A	TCGA-BR-8484-01A-11D-2394-08	15197895	175334354	73916267	13	58642											
LAMC1	3915	broad.mit.edu	37	chr1	183099510	183099510	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatttgatggatcgcctacaGagagtgaataacactctgtc	9	8	1	3			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:183099510G>A	uc001gpy.3	+	19	3569	c.3312G>A	c.(3310-3312)CAG>CAA	p.Q1104Q		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	1104	Potential.|Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCGCCTACAGAGAGTGAATA	0.413													A	183099510	G	A	183099510	2	1	91	1	0	0	0	0	0	0	0	1	8614	933	33	4		4	LAMC1	1	183099510	Silent	SNP	G	TCGA-BR-8484-01A-11D-2394-08	7765156	183099510	66151111	14	58643											
FAM5C	339479	broad.mit.edu	37	chr1	190067640	190067640	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttataacactgcaggggTaggtccaacttagtccgctc	10	11	0	0			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:190067640T>C	uc001gse.1	-	8	2041	c.1809A>G	c.(1807-1809)CTA>CTG	p.L603L	FAM5C_uc010pot.1_Silent_p.L501L	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	603						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					ACTGCAGGGGTAGGTCCAACT	0.463													C	190067640	T	C	190067640	2	2	91	1	0	0	0	0	0	0	0	1	5594	1625	57	3		3	FAM5C	1	190067640	Silent	SNP	T	TCGA-BR-8484-01A-11D-2394-08	6968130	190067640	59182981	15	58644											
ZP4	57829	broad.mit.edu	37	chr1	238053765	238053765	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagtcatcaaacttaccccaAgctattagtacaggaggaga	8	9	2	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:238053765A>T	uc001hym.2	-	1	171	c.171T>A	c.(169-171)GCT>GCA	p.A57A	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	57	Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACTTACCCCAAGCTATTAGTA	0.478													T	238053765	A	T	238053765	2	4	91	1	0	0	0	0	0	0	0	1	18215	59	3	5		5	ZP4	1	238053765	Silent	SNP	A	TCGA-BR-8484-01A-11D-2394-08	47986125	238053765	11196856	16	58645											
POLR1A	25885	broad.mit.edu	37	chr2	86315780	86315780	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgttcctttcggacaacGgatcgcccggtcctgtgcag	12	12	0	0	rs117639882	by1000genomes	TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr2:86315780G>A	uc002sqs.2	-	6	1018	c.639C>T	c.(637-639)TCC>TCT	p.S213S	POLR1A_uc002sqv.2_Silent_p.S213S	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	213					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						TTCGGACAACGGATCGCCCGG	0.512													A	86315780	G	A	86315780	2	1	91	1	0	0	0	0	0	0	0	1	12209	1103	39	1		1	POLR1A	2	86315780	Silent	SNP	G	TCGA-BR-8484-01A-11D-2394-08		86315780	156883593	17	58646											
PTCD3	55037	broad.mit.edu	37	chr2	86364655	86364655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgacagcagcagtgacagCgacagtgacaccagtgaagg	13	10	0	4			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr2:86364655C>T	uc002sqw.2	+	24	2109	c.2043C>T	c.(2041-2043)AGC>AGT	p.S681S	PTCD3_uc002sqx.1_Silent_p.S271S	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3 precursor	681						mitochondrion	protein binding			ovary(1)	1						GCAGTGACAGCGACAGTGACA	0.453													T	86364655	C	T	86364655	2	4	91	1	0	0	0	0	0	0	0	1	12729	767	27	1		1	PTCD3	2	86364655	Silent	SNP	C	TCGA-BR-8484-01A-11D-2394-08	48875	86364655	156834718	18	58647											
LOC150786	150786	broad.mit.edu	37	chr2	132120854	132120854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caataaacgtaacattcagcCctttggctttcctctctccc	4	15	2	0			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr2:132120854C>T	uc002tsr.2	-	1	878	c.440G>A	c.(439-441)GGG>GAG	p.G147E		NM_001077637	NP_001071105	Q53S08	Q53S08_HUMAN	RAB6C-like	147					protein transport|small GTPase mediated signal transduction		GTP binding				0				BRCA - Breast invasive adenocarcinoma(221;0.078)		AACATTCAGCCCTTTGGCTTT	0.448													T	132120854	C	T	132120854	3	4	91	1	0	0	0	0	1	0	0	0	8870	623	22	4	328	4	LOC150786	2	132120854	Missense_Mutation	SNP	C	TCGA-BR-8484-01A-11D-2394-08	45756199	132120854	111078519	19	58648											
ACVR2A	92	broad.mit.edu	37	chr2	148602741	148602741	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatgggagctgctgcaaagtTggcgtttgccgtctttctta	12	8	2	0			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr2:148602741T>A	uc002twg.2	+	2	289	c.20T>A	c.(19-21)TTG>TAG	p.L7*	ACVR2A_uc010zbn.1_Intron|ACVR2A_uc002twh.2_Nonsense_Mutation_p.L7*	NM_001616	NP_001607	P27037	AVR2A_HUMAN	activin A receptor, type IIA precursor	7					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GCTGCAAAGTTGGCGTTTGCC	0.637													A	148602741	T	A	148602741	4	1	91	1	0	0	0	0	0	1	0	0	223	1821	63	5	22	5	ACVR2A	2	148602741	Nonsense_Mutation	SNP	T	TCGA-BR-8484-01A-11D-2394-08	16481887	148602741	94596632	20	58649											
MAP2	4133	broad.mit.edu	37	chr2	210560980	210560980	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagaagaggttgcactttcTgaatataagacagaaaccta	9	6	1	5			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr2:210560980T>C	uc002vde.1	+	7	4334	c.4086T>C	c.(4084-4086)TCT>TCC	p.S1362S	MAP2_uc002vdc.1_Silent_p.S1362S|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.S1358S	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1362					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTGCACTTTCTGAATATAAGA	0.502													C	210560980	T	C	210560980	2	2	91	1	0	0	0	0	0	0	0	1	9235	1567	55	3		3	MAP2	2	210560980	Silent	SNP	T	TCGA-BR-8484-01A-11D-2394-08	61958239	210560980	32638393	21	58650											
WNT10A	80326	broad.mit.edu	37	chr2	219746932	219746932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctccccccggagcccgtgCtcaatgccaacacagtgtgc	10	18	1	0			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr2:219746932C>T	uc002vjd.1	+	2	626	c.163C>T	c.(163-165)CTC>TTC	p.L55F		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family,	55					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			lung(1)|skin(1)	2		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGCCCGTGCTCAATGCCAA	0.617													T	219746932	C	T	219746932	3	4	91	1	0	0	0	0	1	0	0	0	17379	797	28	2	169	2	WNT10A	2	219746932	Missense_Mutation	SNP	C	TCGA-BR-8484-01A-11D-2394-08	9185952	219746932	23452441	22	58651											
GPR149	344758	broad.mit.edu	37	chr3	154146457	154146457	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaggacgacttttgtaagCgctaggatcaaagcgaagcg	12	8	1	0			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr3:154146457C>T	uc003faa.2	-	1	1048	c.948G>A	c.(946-948)GCG>GCA	p.A316A		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	316	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTTTTGTAAGCGCTAGGATCA	0.562													T	154146457	C	T	154146457	2	4	91	1	0	0	0	0	0	0	0	1	6654	755	27	1		1	GPR149	3	154146457	Silent	SNP	C	TCGA-BR-8484-01A-11D-2394-08		154146457	43875973	23	58652											
FXR1	8087	broad.mit.edu	37	chr3	180666236	180666236	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aataaaactgtcaaaaaaaaTaccttctttaaatgcacagt	3	7	2	0			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr3:180666236T>A	uc003fkq.2	+	5	394	c.372T>A	c.(370-372)AAT>AAA	p.N124K	FXR1_uc003fkp.2_Missense_Mutation_p.N39K|FXR1_uc003fkr.2_Missense_Mutation_p.N124K|FXR1_uc011bqj.1_Missense_Mutation_p.N38K|FXR1_uc003fks.2_Missense_Mutation_p.N38K|FXR1_uc011bqk.1_Missense_Mutation_p.N75K|FXR1_uc011bql.1_Missense_Mutation_p.N111K	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	124					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TCAAAAAAAATACCTTCTTTA	0.328													A	180666236	T	A	180666236	3	1	91	1	0	0	0	0	1	0	0	0	6115	1403	49	5	390	5	FXR1	3	180666236	Missense_Mutation	SNP	T	TCGA-BR-8484-01A-11D-2394-08	26519779	180666236	17356194	24	58653											
BST1	683	broad.mit.edu	37	chr4	15733454	15733454	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttctggtgctggcttccAggactcaactgtaactggaa	10	10	3	0	rs1058212	byFrequency	TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr4:15733454A>C	uc003goh.3	+	9	1138	c.943A>C	c.(943-945)AGG>CGG	p.R315R	BST1_uc003goi.2_Intron	NM_004334	NP_004325	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1 precursor	315					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity	p.R315R(1)		central_nervous_system(1)	1						GCTGGCTTCCAGGACTCAACT	0.493													C	15733454	A	C	15733454	2	2	91	1	0	0	0	0	0	0	0	1	1533	179	7	5		5	BST1	4	15733454	Silent	SNP	A	TCGA-BR-8484-01A-11D-2394-08		15733454	175420822	25	58654											
CWH43	80157	broad.mit.edu	37	chr4	49032878	49032878	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aattttggagagtgatgcttCtaagccctatatggggaaca	11	6	1	2			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr4:49032878C>G	uc003gyv.2	+	11	1591	c.1409C>G	c.(1408-1410)TCT>TGT	p.S470C	CWH43_uc011bzl.1_Missense_Mutation_p.S443C	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog	470					GPI anchor biosynthetic process	integral to membrane				skin(2)|ovary(1)	3						AGTGATGCTTCTAAGCCCTAT	0.403													G	49032878	C	G	49032878	3	3	91	1	0	0	0	0	1	0	0	0	4073	913	32	5	1451	5	CWH43	4	49032878	Missense_Mutation	SNP	C	TCGA-BR-8484-01A-11D-2394-08	33299424	49032878	142121398	26	58655											
SCLT1	132320	broad.mit.edu	37	chr4	129867285	129867285	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttttctgtaatcactctcaTttcctctgccttcacggtaa	5	12	5	0			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr4:129867285T>C	uc003igp.2	-	16	1822	c.1316A>G	c.(1315-1317)AAT>AGT	p.N439S	SCLT1_uc003ign.2_Missense_Mutation_p.N103S|SCLT1_uc003igo.2_Missense_Mutation_p.N49S|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	439	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5						ATCACTCTCATTTCCTCTGCC	0.353													C	129867285	T	C	129867285	3	2	91	1	0	0	0	0	1	0	0	0	13906	1493	52	3	774	3	SCLT1	4	129867285	Missense_Mutation	SNP	T	TCGA-BR-8484-01A-11D-2394-08	80834407	129867285	61286991	27	58656											
USP38	84640	broad.mit.edu	37	chr4	144106972	144106972	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtccgtcggtgctggatctCtttagcctcctgcaggtaga	12	11	1	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr4:144106972C>T	uc003ijb.2	+	1	903	c.369C>T	c.(367-369)CTC>CTT	p.L123L	USP38_uc003ija.3_Silent_p.L123L|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	123					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)					TGCTGGATCTCTTTAGCCTCC	0.557													T	144106972	C	T	144106972	2	4	91	1	0	0	0	0	0	0	0	1	17066	900	32	4		4	USP38	4	144106972	Silent	SNP	C	TCGA-BR-8484-01A-11D-2394-08	14239687	144106972	47047304	28	58657											
HTR1A	3350	broad.mit.edu	37	chr5	63256317	63256317	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttaatgatcttcttaaaCgcgttttgaaagtccttgtt	6	8	2	2			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr5:63256317C>T	uc011cqt.1	-	1	1230	c.1230G>A	c.(1228-1230)GCG>GCA	p.A410A		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	410	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TCTTCTTAAACGCGTTTTGAA	0.512													T	63256317	C	T	63256317	2	4	91	1	0	0	0	0	0	0	0	1	7436	523	19	1		1	HTR1A	5	63256317	Silent	SNP	C	TCGA-BR-8484-01A-11D-2394-08		63256317	117658943	29	58658											
CYFIP2	26999	broad.mit.edu	37	chr5	156753275	156753275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgatgagatagaagctgaGgcaagtgatgtgcttctctt	12	6	1	4			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr5:156753275G>A	uc003lwq.2	+	20	2217	c.2079G>A	c.(2077-2079)GAG>GAA	p.E693E	CYFIP2_uc011ddn.1_Silent_p.E667E|CYFIP2_uc011ddo.1_Silent_p.E497E|CYFIP2_uc003lwr.2_Silent_p.E693E|CYFIP2_uc003lws.2_Silent_p.E693E|CYFIP2_uc003lwt.2_Silent_p.E596E|CYFIP2_uc011ddp.1_Silent_p.E427E	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	718					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAGAAGCTGAGGCAAGTGATG	0.428													A	156753275	G	A	156753275	2	1	91	1	0	0	0	0	0	0	0	1	4138	1014	35	4		4	CYFIP2	5	156753275	Silent	SNP	G	TCGA-BR-8484-01A-11D-2394-08	93496958	156753275	24161985	30	58659											
HK3	3101	broad.mit.edu	37	chr5	176308118	176308118	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcggcaggcaacagcggtgaCcagggccgcacctttgccgg	16	14	0	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr5:176308118C>A	uc003mfa.2	-	19	2820	c.2728G>T	c.(2728-2730)GTC>TTC	p.V910F	HK3_uc003mez.2_Missense_Mutation_p.V466F	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	910	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGCGGTGACCAGGGCCGCA	0.677													A	176308118	C	A	176308118	3	1	91	1	0	0	0	0	1	0	0	0	7192	507	18	5	47	5	HK3	5	176308118	Missense_Mutation	SNP	C	TCGA-BR-8484-01A-11D-2394-08	19554843	176308118	4607142	31	58660											
HIST1H3H	8357	broad.mit.edu	37	chr6	27778143	27778143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggcgctgcaagaggcatgcGaggcctacctggtggggctc	17	11	0	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr6:27778143G>A	uc003njm.2	+	1	302	c.292G>A	c.(292-294)GAG>AAG	p.E98K	HIST1H2BL_uc003njl.2_5'Flank	NM_003536	NP_003527	P68431	H31_HUMAN	histone cluster 1, H3h	98					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						AGAGGCATGCGAGGCCTACCT	0.602													A	27778143	G	A	27778143	3	1	91	1	0	0	0	0	1	0	0	0	7162	1059	37	1	294	1	HIST1H3H	6	27778143	Missense_Mutation	SNP	G	TCGA-BR-8484-01A-11D-2394-08		27778143	143336924	32	58661											
BAI3	577	broad.mit.edu	37	chr6	69943236	69943236	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaaactgtgcttaccgaTgcatcccatacgaaatgctt	7	10	0	0			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr6:69943236T>G	uc003pev.3	+	18	2983	c.2535T>G	c.(2533-2535)GAT>GAG	p.D845E	BAI3_uc010kak.2_Missense_Mutation_p.D845E|BAI3_uc011dxx.1_Missense_Mutation_p.D51E|BAI3_uc003pex.1_5'Flank	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	845	GPS.|Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TGCTTACCGATGCATCCCATA	0.483													G	69943236	T	G	69943236	3	3	91	1	0	0	0	0	1	0	0	0	1300	1461	51	5	2597	5	BAI3	6	69943236	Missense_Mutation	SNP	T	TCGA-BR-8484-01A-11D-2394-08	42165093	69943236	101171831	33	58662											
LAMA4	3910	broad.mit.edu	37	chr6	112528344	112528344	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgttgtgttccgctggcaGtgctatgagacaaaagacaa	11	9	0	2			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr6:112528344G>A	uc003pvu.2	-	4	609	c.300C>T	c.(298-300)CAC>CAT	p.H100H	LAMA4_uc003pvv.2_Silent_p.H100H|LAMA4_uc003pvt.2_Silent_p.H100H	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	100	Laminin EGF-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCCGCTGGCAGTGCTATGAGA	0.463													A	112528344	G	A	112528344	2	1	91	1	0	0	0	0	0	0	0	1	8608	1020	36	4		4	LAMA4	6	112528344	Silent	SNP	G	TCGA-BR-8484-01A-11D-2394-08	42585108	112528344	58586723	34	58663											
GPRC6A	222545	broad.mit.edu	37	chr6	117128249	117128249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgccaatccagttccaacCagatttctgaatcaggtgag	9	10	2	3			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr6:117128249C>T	uc003pxj.1	-	3	641	c.619G>A	c.(619-621)GGT>AGT	p.G207S	GPRC6A_uc003pxk.1_Missense_Mutation_p.G207S|GPRC6A_uc003pxl.1_Missense_Mutation_p.G207S	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	207	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CAGTTCCAACCAGATTTCTGA	0.408													T	117128249	C	T	117128249	3	4	91	1	0	0	0	0	1	0	0	0	6728	594	21	4	2177	4	GPRC6A	6	117128249	Missense_Mutation	SNP	C	TCGA-BR-8484-01A-11D-2394-08	4599905	117128249	53986818	35	58664											
ROS1	6098	broad.mit.edu	37	chr6	117662377	117662377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgcaaactagtgttctctGgaaccaaggaataaggtttc	9	7	1	0			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr6:117662377G>A	uc003pxp.1	-	30	5199	c.5000C>T	c.(4999-5001)CCA>CTA	p.P1667L	ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1667	Fibronectin type-III 8.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGTGTTCTCTGGAACCAAGGA	0.413			T	GOPC|ROS1	glioblastoma|NSCLC								A	117662377	G	A	117662377	3	1	91	1	0	0	0	0	1	0	0	0	13531	1348	47	4	2099	4	ROS1	6	117662377	Missense_Mutation	SNP	G	TCGA-BR-8484-01A-11D-2394-08	534128	117662377	53452690	36	58665											
PCLO	27445	broad.mit.edu	37	chr7	82544523	82544523	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcccagtcctgtgccaAgagaagatcccataaatttt	8	10	0	2			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr7:82544523A>C	uc003uhx.2	-	7	13068	c.12779T>G	c.(12778-12780)CTT>CGT	p.L4260R	PCLO_uc003uhv.2_Missense_Mutation_p.L4260R|PCLO_uc010lec.2_Missense_Mutation_p.L1225R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4191					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TCCTGTGCCAAGAGAAGATCC	0.428													C	82544523	A	C	82544523	3	2	91	1	0	0	0	0	1	0	0	0	11583	72	3	5	2742	5	PCLO	7	82544523	Missense_Mutation	SNP	A	TCGA-BR-8484-01A-11D-2394-08		82544523	76594140	37	58666											
AKAP9	10142	broad.mit.edu	37	chr7	91727029	91727029	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaggaggaaccggctgtaatCatgaattagaaatgatcaga	12	5	2	4			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr7:91727029C>A	uc003ulg.2	+	42	10753	c.10528C>A	c.(10528-10530)CAT>AAT	p.H3510N	AKAP9_uc003ulf.2_Missense_Mutation_p.H3502N|AKAP9_uc003uli.2_Missense_Mutation_p.H3133N|AKAP9_uc003ulj.2_Missense_Mutation_p.H1280N|AKAP9_uc003ull.2_Missense_Mutation_p.H406N	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3514					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CGGCTGTAATCATGAATTAGA	0.378			T	BRAF	papillary thyroid								A	91727029	C	A	91727029	3	1	91	1	0	0	0	0	1	0	0	0	459	826	29	5	10694	5	AKAP9	7	91727029	Missense_Mutation	SNP	C	TCGA-BR-8484-01A-11D-2394-08	9182506	91727029	67411634	38	58667											
SAMD9L	219285	broad.mit.edu	37	chr7	92760694	92760694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctacagagattagcttgcCttcagcctgaccagttagac	8	11	2	3			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr7:92760694C>T	uc003umh.1	-	5	5807	c.4591G>A	c.(4591-4593)GGC>AGC	p.G1531S	SAMD9L_uc003umj.1_Missense_Mutation_p.G1531S|SAMD9L_uc003umi.1_Missense_Mutation_p.G1531S|SAMD9L_uc010lfb.1_Missense_Mutation_p.G1531S|SAMD9L_uc003umk.1_Missense_Mutation_p.G1531S|SAMD9L_uc010lfc.1_Missense_Mutation_p.G1531S|SAMD9L_uc010lfd.1_Missense_Mutation_p.G1531S|SAMD9L_uc011khx.1_3'UTR	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1531										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATTAGCTTGCCTTCAGCCTGA	0.398													T	92760694	C	T	92760694	3	4	91	1	0	0	0	0	1	0	0	0	13827	681	24	4	167	4	SAMD9L	7	92760694	Missense_Mutation	SNP	C	TCGA-BR-8484-01A-11D-2394-08	1033665	92760694	66377969	39	58668											
STAG3	10734	broad.mit.edu	37	chr7	99808776	99808776	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggttgaaagagatggaggaAgaagatggctcagagttgga	18	2	1	5			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr7:99808776A>G	uc003utx.1	+	30	3536	c.3381A>G	c.(3379-3381)GAA>GAG	p.E1127E	STAG3_uc011kjk.1_Silent_p.E1069E|GATS_uc003uty.3_Intron|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Silent_p.E351E	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1127					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGATGGAGGAAGAAGATGGCT	0.577													G	99808776	A	G	99808776	2	3	91	1	0	0	0	0	0	0	0	1	15243	69	3	3		3	STAG3	7	99808776	Silent	SNP	A	TCGA-BR-8484-01A-11D-2394-08	7048082	99808776	59329887	40	58669											
CFTR	1080	broad.mit.edu	37	chr7	117232021	117232021	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgatggctaacaaaactagGattttggtcacttctaaaat	7	7	2	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr7:117232021G>A	uc003vjd.2	+	14	1932	c.1800G>A	c.(1798-1800)AGG>AGA	p.R600R	CFTR_uc011knq.1_Silent_p.R6R	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	600	Cytoplasmic (Potential).|ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ACAAAACTAGGATTTTGGTCA	0.279									Cystic_Fibrosis				A	117232021	G	A	117232021	2	1	91	1	0	0	0	0	0	0	0	1	3294	1165	41	4		4	CFTR	7	117232021	Silent	SNP	G	TCGA-BR-8484-01A-11D-2394-08	17423245	117232021	41906642	41	58670											
KCND2	3751	broad.mit.edu	37	chr7	120373007	120373007	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggaagatttttggttctaTctgttcgctgagtggggtct	14	5	3	2			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr7:120373007T>C	uc003vjj.1	+	2	2131	c.1166T>C	c.(1165-1167)ATC>ACC	p.I389T		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	389	Helical; Name=Segment S6; (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					TTTGGTTCTATCTGTTCGCTG	0.408													C	120373007	T	C	120373007	3	2	91	1	0	0	0	0	1	0	0	0	8019	1435	50	3	1172	3	KCND2	7	120373007	Missense_Mutation	SNP	T	TCGA-BR-8484-01A-11D-2394-08	3140986	120373007	38765656	42	58671											
CHRM2	1129	broad.mit.edu	37	chr7	136699939	136699939	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gactatgtggtcagcaatgcCtcagttatgaatctgctcat	9	9	4	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr7:136699939C>G	uc003vtf.1	+	4	950	c.327C>G	c.(325-327)GCC>GCG	p.A109A	CHRM2_uc003vtg.1_Silent_p.A109A|CHRM2_uc003vtj.1_Silent_p.A109A|CHRM2_uc003vtk.1_Silent_p.A109A|CHRM2_uc003vtl.1_Silent_p.A109A|CHRM2_uc003vtm.1_Silent_p.A109A|CHRM2_uc003vti.1_Silent_p.A109A|CHRM2_uc003vto.1_Silent_p.A109A|CHRM2_uc003vtn.1_Silent_p.A109A|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	109	Helical; Name=3; (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TCAGCAATGCCTCAGTTATGA	0.488													G	136699939	C	G	136699939	2	3	91	1	0	0	0	0	0	0	0	1	3377	668	24	5		5	CHRM2	7	136699939	Silent	SNP	C	TCGA-BR-8484-01A-11D-2394-08	16326932	136699939	22438724	43	58672											
KCNH2	3757	broad.mit.edu	37	chr7	150654535	150654535	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctaatggtgcggtagcgcacGaggtcggagtccgaggtgga	18	8	0	0	rs146297032		TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr7:150654535G>A	uc003wic.2	-	5	985	c.972C>T	c.(970-972)CTC>CTT	p.L324L	KCNH2_uc003wib.2_5'Flank|KCNH2_uc011kux.1_Silent_p.L228L|KCNH2_uc003wid.2_5'Flank|KCNH2_uc003wie.2_Silent_p.L324L	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	324	Cytoplasmic (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGTAGCGCACGAGGTCGGAGT	0.632													A	150654535	G	A	150654535	2	1	91	1	0	0	0	0	0	0	0	1	8032	1045	37	1		1	KCNH2	7	150654535	Silent	SNP	G	TCGA-BR-8484-01A-11D-2394-08	13954596	150654535	8484128	44	58673											
SHH	6469	broad.mit.edu	37	chr7	155599103	155599103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcggtcgcggtcagacGtggtgatgtccactgcgcgg	17	11	1	2			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr7:155599103G>A	uc003wmk.1	-	2	600	c.449C>T	c.(448-450)ACG>ATG	p.T150M	SHH_uc003wmh.1_RNA|SHH_uc003wmi.1_Missense_Mutation_p.T63M|SHH_uc003wmj.1_Missense_Mutation_p.T63M	NM_000193	NP_000184	Q15465	SHH_HUMAN	sonic hedgehog preproprotein	150			T -> R (in HPE3).|T -> K (in HPE3).		androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|lung(1)	4	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGGTCAGACGTGGTGATGTC	0.642													A	155599103	G	A	155599103	3	1	91	1	0	0	0	0	1	0	0	0	14279	1145	40	1	947	1	SHH	7	155599103	Missense_Mutation	SNP	G	TCGA-BR-8484-01A-11D-2394-08	4944568	155599103	3539560	45	58674											
RHOBTB2	23221	broad.mit.edu	37	chr8	22868070	22868070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtgtttccctacacaaGcaagagctgcatgcgggccg	14	11	0	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr8:22868070G>A	uc003xcq.2	+	7	2177	c.1640G>A	c.(1639-1641)AGC>AAC	p.S547N	RHOBTB2_uc003xcp.2_Missense_Mutation_p.S569N|RHOBTB2_uc011kzp.1_Missense_Mutation_p.S554N|uc003xcr.2_Intron	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	547	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCCTACACAAGCAAGAGCTGC	0.542													A	22868070	G	A	22868070	3	1	91	1	0	0	0	0	1	0	0	0	13334	971	34	2	1747	2	RHOBTB2	8	22868070	Missense_Mutation	SNP	G	TCGA-BR-8484-01A-11D-2394-08		22868070	123495952	46	58675											
XKR4	114786	broad.mit.edu	37	chr8	56270253	56270253	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctagatatttccacacaatAtacttaggtattcgaagccg	6	9	1	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr8:56270253A>T	uc003xsf.2	+	2	854	c.822A>T	c.(820-822)ATA>ATT	p.I274I		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	274						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCCACACAATATACTTAGGTA	0.388													T	56270253	A	T	56270253	2	4	91	1	0	0	0	0	0	0	0	1	17430	439	16	5		5	XKR4	8	56270253	Silent	SNP	A	TCGA-BR-8484-01A-11D-2394-08	33402183	56270253	90093769	47	58676											
FBXO43	286151	broad.mit.edu	37	chr8	101149837	101149837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatataaaatttcctcctccGatttgcatttttatcttgaa	4	8	1	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr8:101149837G>A	uc003yjd.2	-	3	2343	c.1630C>T	c.(1630-1632)CGG>TGG	p.R544W	FBXO43_uc003yje.2_Missense_Mutation_p.R510W|FBXO43_uc010mbp.1_Missense_Mutation_p.R544W	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	544	F-box.				meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TTCCTCCTCCGATTTGCATTT	0.289													A	101149837	G	A	101149837	3	1	91	1	0	0	0	0	1	0	0	0	5752	1057	37	1	508	1	FBXO43	8	101149837	Missense_Mutation	SNP	G	TCGA-BR-8484-01A-11D-2394-08	44879584	101149837	45214185	48	58677											
SMARCA2	6595	broad.mit.edu	37	chr9	2123850	2123850	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggctcacctgtgaagaAgaggaggagaaaatatttgg	14	4	1	4	rs141291951		TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr9:2123850A>G	uc003zhc.2	+	27	3993	c.3894A>G	c.(3892-3894)GAA>GAG	p.E1298E	SMARCA2_uc003zhd.2_Silent_p.E1298E|SMARCA2_uc010mha.2_Silent_p.E1231E	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1298	Poly-Glu.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCTGTGAAGAAGAGGAGGAGA	0.562													G	2123850	A	G	2123850	2	3	91	1	0	0	0	0	0	0	0	1	14769	69	3	3		3	SMARCA2	9	2123850	Silent	SNP	A	TCGA-BR-8484-01A-11D-2394-08		2123850	139089581	49	58678											
IFNA10	3446	broad.mit.edu	37	chr9	21206570	21206570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgcaagtttgttgaaaacGagagggatctcatgatttct	10	5	2	3			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr9:21206570G>A	uc003zoq.1	-	1	573	c.527C>T	c.(526-528)TCG>TTG	p.S176L	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	interferon, alpha 10 precursor	176					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		TGTTGAAAACGAGAGGGATCT	0.388													A	21206570	G	A	21206570	3	1	91	1	0	0	0	0	1	0	0	0	7532	1059	37	1	46	1	IFNA10	9	21206570	Missense_Mutation	SNP	G	TCGA-BR-8484-01A-11D-2394-08	19082720	21206570	120006861	50	58679											
KIF24	347240	broad.mit.edu	37	chr9	34257621	34257621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatggtgctgactcttctgGcttttttttggccacatgtc	9	10	2	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr9:34257621G>A	uc003zua.3	-	11	2104	c.1984C>T	c.(1984-1986)CCA>TCA	p.P662S	KIF24_uc010mkb.2_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	662					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)			GACTCTTCTGGCTTTTTTTTG	0.522													A	34257621	G	A	34257621	3	1	91	1	0	0	0	0	1	0	0	0	8292	1203	42	2	2134	2	KIF24	9	34257621	Missense_Mutation	SNP	G	TCGA-BR-8484-01A-11D-2394-08	13051051	34257621	106955810	51	58680											
SHC3	53358	broad.mit.edu	37	chr9	91657058	91657058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctcccgtgggggccaCgtgcagtttcccttctggcg	13	14	2	0			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr9:91657058C>T	uc004aqg.2	-	10	1550	c.1243G>A	c.(1243-1245)GTG>ATG	p.V415M		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	415	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4						GTGGGGGCCACGTGCAGTTTC	0.582													T	91657058	C	T	91657058	3	4	91	1	0	0	0	0	1	0	0	0	14272	536	19	1	553	1	SHC3	9	91657058	Missense_Mutation	SNP	C	TCGA-BR-8484-01A-11D-2394-08	57399437	91657058	49556373	52	58681											
GABBR2	9568	broad.mit.edu	37	chr9	101065617	101065617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggtgaccgaggtggacGttttagaatcttctttcttc	10	9	3	2	rs138346207	by1000genomes	TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr9:101065617G>A	uc004ays.2	-	16	2474	c.2318C>T	c.(2317-2319)ACG>ATG	p.T773M		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	773	Cytoplasmic (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CGAGGTGGACGTTTTAGAATC	0.507													A	101065617	G	A	101065617	3	1	91	1	0	0	0	0	1	0	0	0	6156	1145	40	1	523	1	GABBR2	9	101065617	Missense_Mutation	SNP	G	TCGA-BR-8484-01A-11D-2394-08	9408559	101065617	40147814	53	58682											
LAMC3	10319	broad.mit.edu	37	chr9	133932371	133932371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggccagggctttccccGccagcctcctgggtggagat	14	16	0	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr9:133932371G>A	uc004caa.1	+	12	2093	c.1995G>A	c.(1993-1995)CCG>CCA	p.P665P		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	665	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGCTTTCCCCGCCAGCCTCCT	0.617													A	133932371	G	A	133932371	2	1	91	1	0	0	0	0	0	0	0	1	8616	1074	38	1		1	LAMC3	9	133932371	Silent	SNP	G	TCGA-BR-8484-01A-11D-2394-08	32866754	133932371	7281060	54	58683											
CAMSAP1	157922	broad.mit.edu	37	chr9	138713938	138713938	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggactctgctccctcttctGcctccacgtcgtcagagggg	11	16	4	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr9:138713938G>A	uc004cgr.3	-	11	2569	c.2569C>T	c.(2569-2571)CAG>TAG	p.Q857*	CAMSAP1_uc004cgq.3_Nonsense_Mutation_p.Q747*|CAMSAP1_uc010nbg.2_Nonsense_Mutation_p.Q579*	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	857						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCCCTCTTCTGCCTCCACGTC	0.622													A	138713938	G	A	138713938	4	1	91	1	0	0	0	0	0	1	0	0	2611	1328	46	2	2267	2	CAMSAP1	9	138713938	Nonsense_Mutation	SNP	G	TCGA-BR-8484-01A-11D-2394-08	4781567	138713938	2499493	55	58684											
C10orf140	387640	broad.mit.edu	37	chr10	21804403	21804403	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgctttcccagtactagTgtccggtaattttttctcac	8	11	1	0			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr10:21804403T>C	uc009xkd.2	-	4	4602	c.2349A>G	c.(2347-2349)ACA>ACG	p.T783T	uc001iqp.1_Intron	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	hypothetical protein LOC387640	702						nucleus	nucleotide binding			ovary(1)	1						CCAGTACTAGTGTCCGGTAAT	0.458													C	21804403	T	C	21804403	2	2	91	1	0	0	0	0	0	0	0	1	1595	1683	59	3		3	C10orf140	10	21804403	Silent	SNP	T	TCGA-BR-8484-01A-11D-2394-08		21804403	113730344	56	58685											
PCDH15	65217	broad.mit.edu	37	chr10	55721560	55721560	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agattgactcgtgttattacTcttccagaatcttcttccac	5	11	3	3			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr10:55721560T>A	uc001jju.1	-	22	3356	c.2961A>T	c.(2959-2961)AGA>AGT	p.R987S	PCDH15_uc010qhq.1_Missense_Mutation_p.R992S|PCDH15_uc010qhr.1_Missense_Mutation_p.R987S|PCDH15_uc010qhs.1_Missense_Mutation_p.R999S|PCDH15_uc010qht.1_Missense_Mutation_p.R994S|PCDH15_uc010qhu.1_Missense_Mutation_p.R987S|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.R987S|PCDH15_uc010qhw.1_Missense_Mutation_p.R950S|PCDH15_uc010qhx.1_Missense_Mutation_p.R916S|PCDH15_uc010qhy.1_Missense_Mutation_p.R992S|PCDH15_uc010qhz.1_Missense_Mutation_p.R987S|PCDH15_uc010qia.1_Missense_Mutation_p.R965S|PCDH15_uc010qib.1_Missense_Mutation_p.R965S	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	987	Extracellular (Potential).|Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				GTGTTATTACTCTTCCAGAAT	0.343										HNSCC(58;0.16)			A	55721560	T	A	55721560	3	1	91	1	0	0	0	0	1	0	0	0	11511	1548	54	5	4573	5	PCDH15	10	55721560	Missense_Mutation	SNP	T	TCGA-BR-8484-01A-11D-2394-08	33917157	55721560	79813187	57	58686											
ZNF365	22891	broad.mit.edu	37	chr10	64415333	64415333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaatacacttgcagagtcGtgctgtggtctctccgagct	11	11	1	2	rs141141483		TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr10:64415333G>A	uc001jmd.1	+	4	667	c.333G>A	c.(331-333)TCG>TCA	p.S111S	ZNF365_uc001jmc.2_Intron|ZNF365_uc001jme.1_Intron|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Intron	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform D	111										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					TTGCAGAGTCGTGCTGTGGTC	0.512													A	64415333	G	A	64415333	2	1	91	1	0	0	0	0	0	0	0	1	17866	1132	40	1		1	ZNF365	10	64415333	Silent	SNP	G	TCGA-BR-8484-01A-11D-2394-08	8693773	64415333	71119414	58	58687											
STOX1	219736	broad.mit.edu	37	chr10	70645465	70645465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggagaccaaacagactcCgcatagtctgccatcacgag	11	12	2	2			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr10:70645465C>T	uc001jos.2	+	3	2000	c.1913C>T	c.(1912-1914)CCG>CTG	p.P638L	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.P528L	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	638						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2						AAACAGACTCCGCATAGTCTG	0.433													T	70645465	C	T	70645465	3	4	91	1	0	0	0	0	1	0	0	0	15318	652	23	1	1923	1	STOX1	10	70645465	Missense_Mutation	SNP	C	TCGA-BR-8484-01A-11D-2394-08	6230132	70645465	64889282	59	58688											
LRIT1	26103	broad.mit.edu	37	chr10	85991896	85991896	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aagcactttcggcagcgcttCtgaagagcactgcagcagac	11	12	1	3			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr10:85991896C>G	uc001kcz.1	-	4	1681	c.1659G>C	c.(1657-1659)CAG>CAC	p.Q553H		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	553	Cytoplasmic (Potential).					integral to endoplasmic reticulum membrane					0						GGCAGCGCTTCTGAAGAGCAC	0.552													G	85991896	C	G	85991896	3	3	91	1	0	0	0	0	1	0	0	0	8947	912	32	5	216	5	LRIT1	10	85991896	Missense_Mutation	SNP	C	TCGA-BR-8484-01A-11D-2394-08	15346431	85991896	49542851	60	58689											
GRID1	2894	broad.mit.edu	37	chr10	87966203	87966203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacatcattgaggcggacGggtggtctcgaagccagtgt	15	8	2	2			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr10:87966203G>A	uc001kdl.1	-	3	539	c.438C>T	c.(436-438)CCC>CCT	p.P146P	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	146	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	TGAGGCGGACGGGTGGTCTCG	0.622										Multiple Myeloma(13;0.14)			A	87966203	G	A	87966203	2	1	91	1	0	0	0	0	0	0	0	1	6771	1103	39	1		1	GRID1	10	87966203	Silent	SNP	G	TCGA-BR-8484-01A-11D-2394-08	1974307	87966203	47568544	61	58690											
MYOF	26509	broad.mit.edu	37	chr10	95119649	95119649	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttttcggaccagccttcGccgtctatgagtgtggtaca	12	11	1	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr10:95119649G>A	uc001kin.2	-	29	3184	c.3061C>T	c.(3061-3063)CGA>TGA	p.R1021*	MYOF_uc001kio.2_Nonsense_Mutation_p.R1008*|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1021	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						ACCAGCCTTCGCCGTCTATGA	0.502													A	95119649	G	A	95119649	4	1	91	1	0	0	0	0	0	1	0	0	10089	1095	38	1	3228	1	MYOF	10	95119649	Nonsense_Mutation	SNP	G	TCGA-BR-8484-01A-11D-2394-08	7153446	95119649	40415098	62	58691											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118385511	118385511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaaacttccaactggacCgcaagacacgcttcatcatc	5	15	3	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr10:118385511C>T	uc001lcq.2	+	6	285	c.262C>T	c.(262-264)CGC>TGC	p.R88C	PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA	NM_005396	NP_005387	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2	87					galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			large_intestine(1)	1				all cancers(201;0.015)		CCAACTGGACCGCAAGACACG	0.498													T	118385511	C	T	118385511	3	4	91	1	0	0	0	0	1	0	0	0	12151	652	23	1	275	1	PNLIPRP2	10	118385511	Missense_Mutation	SNP	C	TCGA-BR-8484-01A-11D-2394-08	23265862	118385511	17149236	63	58692											
ODF3	113746	broad.mit.edu	37	chr11	197612	197612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccggcctacagcttccGtggggcccccatgctcctgg	12	17	0	0			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr11:197612G>A	uc001lob.2	+	3	455	c.161G>A	c.(160-162)CGT>CAT	p.R54H	ODF3_uc010qvk.1_Missense_Mutation_p.R54H|ODF3_uc001loc.2_Missense_Mutation_p.R54H	NM_053280	NP_444510	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	54					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				ovary(1)	1		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TACAGCTTCCGTGGGGCCCCC	0.632													A	197612	G	A	197612	3	1	91	1	0	0	0	0	1	0	0	0	10829	1145	40	1	167	1	ODF3	11	197612	Missense_Mutation	SNP	G	TCGA-BR-8484-01A-11D-2394-08		197612	134808904	64	58693											
SLC17A6	57084	broad.mit.edu	37	chr11	22391671	22391671	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcagaagctggactttTtatttattgcttattagtca	7	6	2	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr11:22391671T>G	uc001mqk.2	+	8	1391	c.978T>G	c.(976-978)TTT>TTG	p.F326L		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	326	Helical; (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						GCTGGACTTTTTATTTATTGC	0.323													G	22391671	T	G	22391671	3	3	91	1	0	0	0	0	1	0	0	0	14421	1838	64	5	1008	5	SLC17A6	11	22391671	Missense_Mutation	SNP	T	TCGA-BR-8484-01A-11D-2394-08	22194059	22391671	112614845	65	58694											
DLG2	1740	broad.mit.edu	37	chr11	83641522	83641522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgctgtaaacaggttccgGaggcctggtgatacaagagg	15	7	0	2			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr11:83641522G>A	uc001paj.2	-	10	1333	c.1030C>T	c.(1030-1032)CCG>TCG	p.P344S	DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Missense_Mutation_p.P311S|DLG2_uc010rsz.1_Missense_Mutation_p.P344S|DLG2_uc010rta.1_Missense_Mutation_p.P344S|DLG2_uc001pak.2_Missense_Mutation_p.P449S|DLG2_uc010rtb.1_Missense_Mutation_p.P311S|DLG2_uc001pal.1_Missense_Mutation_p.P344S|DLG2_uc001pam.1_Missense_Mutation_p.P383S	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	344						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ACAGGTTCCGGAGGCCTGGTG	0.458													A	83641522	G	A	83641522	3	1	91	1	0	0	0	0	1	0	0	0	4555	1174	41	4	1688	4	DLG2	11	83641522	Missense_Mutation	SNP	G	TCGA-BR-8484-01A-11D-2394-08	61249851	83641522	51364994	66	58695											
IL18	3606	broad.mit.edu	37	chr11	112014479	112014479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattatcatgtcctgggacaCttctctgaaagaatatgatg	8	7	2	3			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr11:112014479C>T	uc001pnb.1	-	6	642	c.422G>A	c.(421-423)AGT>AAT	p.S141N	IL18_uc001pna.1_Missense_Mutation_p.S115N|IL18_uc009yym.1_Missense_Mutation_p.S137N	NM_001562	NP_001553	Q14116	IL18_HUMAN	interleukin 18 proprotein	141					angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity				0		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		TCCTGGGACACTTCTCTGAAA	0.323													T	112014479	C	T	112014479	3	4	91	1	0	0	0	0	1	0	0	0	7645	565	20	4	163	4	IL18	11	112014479	Missense_Mutation	SNP	C	TCGA-BR-8484-01A-11D-2394-08	28372957	112014479	22992037	67	58696											
OR8D2	283160	broad.mit.edu	37	chr11	124189480	124189480	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagttgctaaggtattaActcctccaataatgaacagc	8	8	0	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr11:124189480A>C	uc010sah.1	-	1	614	c.614T>G	c.(613-615)GTT>GGT	p.V205G		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D,	205	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|pancreas(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TAAGGTATTAACTCCTCCAAT	0.413													C	124189480	A	C	124189480	3	2	91	1	0	0	0	0	1	0	0	0	11232	43	2	5	324	5	OR8D2	11	124189480	Missense_Mutation	SNP	A	TCGA-BR-8484-01A-11D-2394-08	12175001	124189480	10817036	68	58697											
CLECL1	160365	broad.mit.edu	37	chr12	9885618	9885618	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgtcagcgtagactacatcTccagccattgcacagatcaa	7	12	3	2			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr12:9885618T>A	uc001qwj.2	-	1	243	c.243A>T	c.(241-243)GGA>GGT	p.G81G		NM_172004	NP_742001	Q8IZS7	CLCL1_HUMAN	type II transmembrane protein DCAL1	81	Helical; Signal-anchor for type II membrane protein; (Potential).					integral to membrane|plasma membrane	sugar binding				0						AGACTACATCTCCAGCCATTG	0.433													A	9885618	T	A	9885618	2	1	91	1	0	0	0	0	0	0	0	1	3523	1538	54	5		5	CLECL1	12	9885618	Silent	SNP	T	TCGA-BR-8484-01A-11D-2394-08		9885618	123966277	69	58698											
DNAH10	196385	broad.mit.edu	37	chr12	124359954	124359954	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgacccaagatttatttcGctattcagtgtcttcaatgt	7	8	3	2			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr12:124359954G>A	uc001uft.3	+	46	7786	c.7761G>A	c.(7759-7761)TCG>TCA	p.S2587S		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2587	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GATTTATTTCGCTATTCAGTG	0.443													A	124359954	G	A	124359954	2	1	91	1	0	0	0	0	0	0	0	1	4598	1074	38	1		1	DNAH10	12	124359954	Silent	SNP	G	TCGA-BR-8484-01A-11D-2394-08	114474336	124359954	9491941	70	58699											
PCDH17	27253	broad.mit.edu	37	chr13	58207332	58207332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgctgactgccctggacGgtggcgagcctccacgttcc	13	15	0	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr13:58207332G>A	uc001vhq.1	+	1	1544	c.652G>A	c.(652-654)GGT>AGT	p.G218S	PCDH17_uc010aec.1_Missense_Mutation_p.G218S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	218	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGCCCTGGACGGTGGCGAGCC	0.607													A	58207332	G	A	58207332	3	1	91	1	0	0	0	0	1	0	0	0	11512	1116	39	1	654	1	PCDH17	13	58207332	Missense_Mutation	SNP	G	TCGA-BR-8484-01A-11D-2394-08		58207332	56962546	71	58700											
PCDH20	64881	broad.mit.edu	37	chr13	61987973	61987973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcagcagccgcaggtcctCggccaggctgccgatgagca	16	14	0	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr13:61987973C>T	uc001vid.3	-	2	623	c.259G>A	c.(259-261)GAG>AAG	p.E87K	PCDH20_uc010thj.1_Missense_Mutation_p.E87K	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	60	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CGCAGGTCCTCGGCCAGGCTG	0.687													T	61987973	C	T	61987973	3	4	91	1	0	0	0	0	1	0	0	0	11515	893	31	1	2600	1	PCDH20	13	61987973	Missense_Mutation	SNP	C	TCGA-BR-8484-01A-11D-2394-08	3780641	61987973	53181905	72	58701											
COL4A1	1282	broad.mit.edu	37	chr13	110829307	110829307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggagccaggcttgccagGgagaccgacatcccccttat	11	14	0	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr13:110829307G>A	uc001vqw.3	-	34	2916	c.2794C>T	c.(2794-2796)CCT>TCT	p.P932S	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	932	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGCTTGCCAGGGAGACCGACA	0.587													A	110829307	G	A	110829307	3	1	91	1	0	0	0	0	1	0	0	0	3689	1232	43	4	2291	4	COL4A1	13	110829307	Missense_Mutation	SNP	G	TCGA-BR-8484-01A-11D-2394-08	48841334	110829307	4340571	73	58702											
AKAP6	9472	broad.mit.edu	37	chr14	33046439	33046439	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaccttaaactgtatctggaGacacacttggtaggcaagat	10	8	1	2			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr14:33046439G>A	uc001wrq.2	+	5	2630	c.2460G>A	c.(2458-2460)GAG>GAA	p.E820E	AKAP6_uc010aml.2_Silent_p.E817E	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	820	Spectrin 1.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGTATCTGGAGACACACTTGG	0.348													A	33046439	G	A	33046439	2	1	91	1	0	0	0	0	0	0	0	1	455	933	33	4		4	AKAP6	14	33046439	Silent	SNP	G	TCGA-BR-8484-01A-11D-2394-08		33046439	74303101	74	58703											
SEMA6D	80031	broad.mit.edu	37	chr15	48055278	48055278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctttcgagaaatcgctGtcgaacataataatttaggc	7	8	2	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr15:48055278G>A	uc010bek.2	+	9	1084	c.724G>A	c.(724-726)GTC>ATC	p.V242I	SEMA6D_uc001zvw.2_Missense_Mutation_p.V242I|SEMA6D_uc001zvx.1_Missense_Mutation_p.V242I|SEMA6D_uc001zvy.2_Missense_Mutation_p.V242I|SEMA6D_uc001zvz.2_Missense_Mutation_p.V242I|SEMA6D_uc001zwa.2_Missense_Mutation_p.V242I|SEMA6D_uc001zwb.2_Missense_Mutation_p.V242I|SEMA6D_uc001zwc.2_Missense_Mutation_p.V242I	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	242	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.V242V(1)		skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGAAATCGCTGTCGAACATAA	0.358													A	48055278	G	A	48055278	3	1	91	1	0	0	0	0	1	0	0	0	14042	1377	48	4	754	4	SEMA6D	15	48055278	Missense_Mutation	SNP	G	TCGA-BR-8484-01A-11D-2394-08		48055278	54476114	75	58704											
FBN1	2200	broad.mit.edu	37	chr15	48782113	48782113	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggtcctctcggacacagcTcctcgtactcaggagtattt	10	13	2	0			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr15:48782113T>C	uc001zwx.1	-	25	3345	c.3017A>G	c.(3016-3018)GAG>GGG	p.E1006G		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1006	TB 5.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGGACACAGCTCCTCGTACTC	0.542													C	48782113	T	C	48782113	3	2	91	1	0	0	0	0	1	0	0	0	5702	1551	54	3	5766	3	FBN1	15	48782113	Missense_Mutation	SNP	T	TCGA-BR-8484-01A-11D-2394-08	726835	48782113	53749279	76	58705											
PHKG2	5261	broad.mit.edu	37	chr16	30768205	30768205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgaccaagaatgcactGttgagggacccttatgcgct	10	12	0	3			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr16:30768205G>A	uc002dzk.1	+	10	1101	c.1008G>A	c.(1006-1008)CTG>CTA	p.L336L	PHKG2_uc002dzi.1_Silent_p.L340L|PHKG2_uc002dzj.1_Silent_p.L234L	NM_000294	NP_000285	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	336					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)	1			Colorectal(24;0.198)			AGAATGCACTGTTGAGGGACC	0.617													A	30768205	G	A	30768205	2	1	91	1	0	0	0	0	0	0	0	1	11847	1364	48	4		4	PHKG2	16	30768205	Silent	SNP	G	TCGA-BR-8484-01A-11D-2394-08		30768205	59586548	77	58706											
LPCAT2	54947	broad.mit.edu	37	chr16	55608610	55608610	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttgtgcaacccttccaAcacagaggagatcatccagg	9	12	2	2			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr16:55608610A>T	uc002eie.3	+	12	1464	c.1283A>T	c.(1282-1284)AAC>ATC	p.N428I	LPCAT2_uc002eic.2_Missense_Mutation_p.N158I	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	428	EF-hand 2.|Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0						AACCCTTCCAACACAGAGGAG	0.453													T	55608610	A	T	55608610	3	4	91	1	0	0	0	0	1	0	0	0	8911	43	2	5	1329	5	LPCAT2	16	55608610	Missense_Mutation	SNP	A	TCGA-BR-8484-01A-11D-2394-08	24840405	55608610	34746143	78	58707											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr17:7578406C>T	uc002gim.2	-	5	718	c.524G>A	c.(523-525)CGC>CAC	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	175	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7578406	C	T	7578406	3	4	91	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-BR-8484-01A-11D-2394-08		7578406	73616804	79	58708											
C18orf34	374864	broad.mit.edu	37	chr18	30926368	30926368	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcctgctttaactctggacaCttttcatcttaaacagaaat	4	10	3	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr18:30926368C>G	uc002kxn.2	-	8	607	c.465G>C	c.(463-465)AAG>AAC	p.K155N	C18orf34_uc010xbr.1_Missense_Mutation_p.K155N|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.K155N|C18orf34_uc002kxp.2_Missense_Mutation_p.K155N	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	155	Potential.									ovary(1)	1						ACTCTGGACACTTTTCATCTT	0.353													G	30926368	C	G	30926368	3	3	91	1	0	0	0	0	1	0	0	0	1902	564	20	5	2198	5	C18orf34	18	30926368	Missense_Mutation	SNP	C	TCGA-BR-8484-01A-11D-2394-08		30926368	47150880	80	58709											
MUC16	94025	broad.mit.edu	37	chr19	9010988	9010988	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cactgctggtgggggccacaGagctccgatgggtgaaacct	15	11	0	2			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr19:9010988G>A	uc002mkp.2	-	37	39134	c.38930C>T	c.(38929-38931)TCT>TTT	p.S12977F	MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12979	Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGGGGCCACAGAGCTCCGATG	0.522													A	9010988	G	A	9010988	3	1	91	1	0	0	0	0	1	0	0	0	9973	942	33	4	4785	4	MUC16	19	9010988	Missense_Mutation	SNP	G	TCGA-BR-8484-01A-11D-2394-08		9010988	50117995	81	58710											
ZNF625	90589	broad.mit.edu	37	chr19	12256938	12256938	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttctccacatgattttactCggggagttttcttcttcagc	7	11	4	1	rs112669855		TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr19:12256938C>A	uc002mth.2	-	4	445	c.95G>T	c.(94-96)CGA>CTA	p.R32L	ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Missense_Mutation_p.R66L	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	zinc finger protein 625	32	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGATTTTACTCGGGGAGTTTT	0.448													A	12256938	C	A	12256938	3	1	91	1	0	0	0	0	1	0	0	0	18046	884	31	5	829	5	ZNF625	19	12256938	Missense_Mutation	SNP	C	TCGA-BR-8484-01A-11D-2394-08	3245950	12256938	46872045	82	58711											
ZNF208	7757	broad.mit.edu	37	chr19	22156673	22156673	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctccagtatgaattttcTtatgataactaagggttgag	8	6	2	3			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr19:22156673T>G	uc002nqp.2	-	4	1312	c.1163A>C	c.(1162-1164)AAG>ACG	p.K388T	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATGAATTTTCTTATGATAACT	0.373													G	22156673	T	G	22156673	3	3	91	1	0	0	0	0	1	0	0	0	17763	1609	56	5	2683	5	ZNF208	19	22156673	Missense_Mutation	SNP	T	TCGA-BR-8484-01A-11D-2394-08	9899735	22156673	36972310	83	58712											
PSG11	5680	broad.mit.edu	37	chr19	43523024	43523024	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtgacaccaaatagaaAgagggtcctgttggtttcag	11	7	1	3			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr19:43523024A>G	uc002ovm.1	-	3	714	c.607T>C	c.(607-609)TTT>CTT	p.F203L	PSG11_uc002ouw.2_Missense_Mutation_p.F209L|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.F209L|PSG11_uc002ovn.1_Missense_Mutation_p.F209L|PSG11_uc002ovo.1_Missense_Mutation_p.F81L|PSG11_uc002ovp.1_Missense_Mutation_p.F81L	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	203	Ig-like C2-type 1.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				CCAAATAGAAAGAGGGTCCTG	0.502													G	43523024	A	G	43523024	3	3	91	1	0	0	0	0	1	0	0	0	12654	72	3	3	412	3	PSG11	19	43523024	Missense_Mutation	SNP	A	TCGA-BR-8484-01A-11D-2394-08	21366351	43523024	15605959	84	58713											
HAS1	3036	broad.mit.edu	37	chr19	52222534	52222534	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcttgccgccccagcgctgCgccacgcacacgcacctgcg	11	21	0	0			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr19:52222534C>A	uc002pxo.1	-	2	662	c.627G>T	c.(625-627)GCG>GCT	p.A209A	HAS1_uc010epc.1_5'Flank|HAS1_uc010epd.1_Silent_p.A174A|HAS1_uc002pxn.1_Silent_p.A216A|HAS1_uc002pxp.1_Silent_p.A208A	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	209	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCCAGCGCTGCGCCACGCACA	0.617													A	52222534	C	A	52222534	2	1	91	1	0	0	0	0	0	0	0	1	6961	755	27	5		5	HAS1	19	52222534	Silent	SNP	C	TCGA-BR-8484-01A-11D-2394-08	8699510	52222534	6906449	85	58714											
HAO1	54363	broad.mit.edu	37	chr20	7915153	7915153	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacagtggcaagctcgccGtccacatgagccatgcgctg	11	15	1	1	rs138052675		TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr20:7915153G>A	uc002wmw.1	-	2	291	c.267C>T	c.(265-267)GAC>GAT	p.D89D	HAO1_uc010gbu.2_Silent_p.D89D	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase 1	89	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			ovary(3)	3						CAAGCTCGCCGTCCACATGAG	0.522													A	7915153	G	A	7915153	2	1	91	1	0	0	0	0	0	0	0	1	6951	1136	40	1		1	HAO1	20	7915153	Silent	SNP	G	TCGA-BR-8484-01A-11D-2394-08		7915153	55110367	86	58715											
SULF2	55959	broad.mit.edu	37	chr20	46290516	46290516	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgttggggtgcctactcaCccaggtccatgtttcgagtc	11	13	1	0			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr20:46290516C>T	uc002xto.2	-	18	2824	c.2494_splice	c.e18+1	p.G832_splice	SULF2_uc002xtr.2_Splice_Site_p.D832_splice|SULF2_uc002xtq.2_Splice_Site_p.G832_splice|SULF2_uc010zyd.1_Splice_Site_p.G111_splice	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor						bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						TGCCTACTCACCCAGGTCCAT	0.567													T	46290516	C	T	46290516	5	4	91	1	0	0	0	0	0	0	1	0	15370	521	18	4	133	4	SULF2	20	46290516	Splice_Site	SNP	C	TCGA-BR-8484-01A-11D-2394-08	38375363	46290516	16735004	87	58716											
SULF2	55959	broad.mit.edu	37	chr20	46331299	46331299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgcttctctttcaccccGttccgacacagcgtgtagtt	8	15	2	0			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr20:46331299G>A	uc002xto.2	-	4	861	c.531C>T	c.(529-531)AAC>AAT	p.N177N	SULF2_uc002xtr.2_Silent_p.N177N|SULF2_uc002xtq.2_Silent_p.N177N|SULF2_uc010ghv.1_Silent_p.N177N	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	177					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						CTTTCACCCCGTTCCGACACA	0.453													A	46331299	G	A	46331299	2	1	91	1	0	0	0	0	0	0	0	1	15370	1136	40	1		1	SULF2	20	46331299	Silent	SNP	G	TCGA-BR-8484-01A-11D-2394-08	40783	46331299	16694221	88	58717											
TSHZ2	128553	broad.mit.edu	37	chr20	51870928	51870928	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaaggagccagtcccaAccatttcctcgaaaatggtc	8	12	0	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr20:51870928A>C	uc002xwo.2	+	2	1887	c.931A>C	c.(931-933)ACC>CCC	p.T311P		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	311					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			GCCAGTCCCAACCATTTCCTC	0.448													C	51870928	A	C	51870928	3	2	91	1	0	0	0	0	1	0	0	0	16621	43	2	5	937	5	TSHZ2	20	51870928	Missense_Mutation	SNP	A	TCGA-BR-8484-01A-11D-2394-08	5539629	51870928	11154592	89	58718											
ADARB1	104	broad.mit.edu	37	chr21	46602544	46602544	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgataagtgtttctacaggaAcaaaatgtattaatggtgaa	9	3	1	2			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr21:46602544A>G	uc002zgy.2	+	6	1558	c.1123A>G	c.(1123-1125)ACA>GCA	p.T375A	ADARB1_uc002zgr.2_Missense_Mutation_p.T375A|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.T375A|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.T375A|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	375	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		TTCTACAGGAACAAAATGTAT	0.348													G	46602544	A	G	46602544	3	3	91	1	0	0	0	0	1	0	0	0	282	43	2	3	1137	3	ADARB1	21	46602544	Missense_Mutation	SNP	A	TCGA-BR-8484-01A-11D-2394-08		46602544	1527351	90	58719											
CACNA1I	8911	broad.mit.edu	37	chr22	40037148	40037148	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccacaagggtgccatcaaCtttgacaacatcggttatgc	8	13	1	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr22:40037148C>A	uc003ayc.2	+	6	1017	c.1017C>A	c.(1015-1017)AAC>AAA	p.N339K	CACNA1I_uc003ayd.2_Missense_Mutation_p.N339K|CACNA1I_uc003aye.2_Missense_Mutation_p.N254K|CACNA1I_uc003ayf.2_Missense_Mutation_p.N254K	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	339	I.|Extracellular (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GTGCCATCAACTTTGACAACA	0.577													A	40037148	C	A	40037148	3	1	91	1	0	0	0	0	1	0	0	0	2546	564	20	5	1039	5	CACNA1I	22	40037148	Missense_Mutation	SNP	C	TCGA-BR-8484-01A-11D-2394-08		40037148	11267418	91	58720											
DDX3X	1654	broad.mit.edu	37	chrX	41204467	41204467	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgaagctgatcggatgttgGatatggggtttgagcctcag	15	5	1	3			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chrX:41204467G>T	uc004dfe.2	+	11	1915	c.1060G>T	c.(1060-1062)GAT>TAT	p.D354Y	DDX3X_uc004dff.2_Missense_Mutation_p.D354Y|DDX3X_uc011mkq.1_Missense_Mutation_p.D338Y|DDX3X_uc011mkr.1_Missense_Mutation_p.D354Y|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	354	Necessary for interaction with XPO1.|Helicase ATP-binding.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						TCGGATGTTGGATATGGGGTT	0.398										HNSCC(61;0.18)			T	41204467	G	T	41204467	3	4	91	1	0	0	0	0	1	0	0	0	4358	1174	41	5	1102	5	DDX3X	23	41204467	Missense_Mutation	SNP	G	TCGA-BR-8484-01A-11D-2394-08		41204467	114066093	92	58721											
HUWE1	10075	broad.mit.edu	37	chrX	53672407	53672407	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagaggaagccaataaagtTgtcaaatgctaaagggacaa	10	6	2	1			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chrX:53672407T>C	uc004dsp.2	-	7	762	c.360A>G	c.(358-360)ACA>ACG	p.T120T		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	120					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CCAATAAAGTTGTCAAATGCT	0.398													C	53672407	T	C	53672407	2	2	91	1	0	0	0	0	0	0	0	1	7461	1799	63	3		3	HUWE1	23	53672407	Silent	SNP	T	TCGA-BR-8484-01A-11D-2394-08	12467940	53672407	101598153	93	58722											
EDA2R	60401	broad.mit.edu	37	chrX	65835851	65835851	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtcccagtactcattttcTtggcaatccatggtgggaag	11	9	2	0			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chrX:65835851T>G	uc004dwq.2	-	1	23	c.12A>C	c.(10-12)CAA>CAC	p.Q4H	EDA2R_uc004dwr.2_Missense_Mutation_p.Q4H|EDA2R_uc004dws.2_Missense_Mutation_p.Q4H|EDA2R_uc011mpb.1_RNA|EDA2R_uc011mpc.1_5'UTR|EDA2R_uc010nkt.1_Missense_Mutation_p.Q4H|EDA2R_uc004dwt.1_Missense_Mutation_p.Q4H	NM_021783	NP_068555	Q9HAV5	TNR27_HUMAN	X-linked ectodysplasin receptor	4	TNFR-Cys 1.|Extracellular (Potential).				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			upper_aerodigestive_tract(1)	1						ACTCATTTTCTTGGCAATCCA	0.502													G	65835851	T	G	65835851	3	3	91	1	0	0	0	0	1	0	0	0	4904	1606	56	5	901	5	EDA2R	23	65835851	Missense_Mutation	SNP	T	TCGA-BR-8484-01A-11D-2394-08	12163444	65835851	89434709	94	58723											
KIAA2022	340533	broad.mit.edu	37	chrX	73961095	73961095	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatggtcctgggacaccctcTtggaacccctttagtgttcc	9	13	1	0			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chrX:73961095T>A	uc004eby.2	-	3	3914	c.3297A>T	c.(3295-3297)CAA>CAT	p.Q1099H		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1099					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						GGACACCCTCTTGGAACCCCT	0.478													A	73961095	T	A	73961095	3	1	91	1	0	0	0	0	1	0	0	0	8269	1606	56	5	1261	5	KIAA2022	23	73961095	Missense_Mutation	SNP	T	TCGA-BR-8484-01A-11D-2394-08	8125244	73961095	81309465	95	58724											
CAMTA1	23261	broad.mit.edu	37	chr1	7724054	7724054	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccagaaaccaccatgaacTttgaccccgactgtttcctt	5	14	0	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:7724054T>G	uc001aoi.2	+	9	1654	c.1447T>G	c.(1447-1449)TTT>GTT	p.F483V		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CACCATGAACTTTGACCCCGA	0.597													G	7724054	T	G	7724054	3	3	92	1	0	0	0	0	1	0	0	0	2613	1609	56	5	1481	5	CAMTA1	1	7724054	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08		7724054	241526567	1	58725											
RNF19B	127544	broad.mit.edu	37	chr1	33407927	33407927	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagggctgcaaagctggcCgtttcgctgtaaggaccttg	15	9	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:33407927C>T	uc010oho.1	-	7	1539	c.1539G>A	c.(1537-1539)ACG>ACA	p.T513T	RNF19B_uc001bwm.3_Silent_p.T512T|RNF19B_uc010ohp.1_Silent_p.T512T	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B isoform a	513						integral to membrane	ligase activity|protein binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CAAAGCTGGCCGTTTCGCTGT	0.498													T	33407927	C	T	33407927	2	4	92	1	0	0	0	0	0	0	0	1	13471	639	23	1		1	RNF19B	1	33407927	Silent	SNP	C	TCGA-BR-8485-01A-11D-2394-08	25683873	33407927	215842694	2	58726											
GJB3	2707	broad.mit.edu	37	chr1	35250846	35250846	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcaatatgccgcgcctGgtgcagtgtgccaacgtggc	14	12	1	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:35250846G>T	uc001bxx.2	+	2	1098	c.483G>T	c.(481-483)CTG>CTT	p.L161L	GJB3_uc001bxy.2_Silent_p.L161L|GJB3_uc001bxz.3_Silent_p.L161L|uc010ohs.1_RNA	NM_024009	NP_076872	O75712	CXB3_HUMAN	connexin 31	161	Extracellular (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGCCGCGCCTGGTGCAGTGTG	0.557													T	35250846	G	T	35250846	2	4	92	1	0	0	0	0	0	0	0	1	6409	1335	47	5		5	GJB3	1	35250846	Silent	SNP	G	TCGA-BR-8485-01A-11D-2394-08	1842919	35250846	213999775	3	58727											
NEGR1	257194	broad.mit.edu	37	chr1	72076711	72076711	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taatcacaaagtcctcacttCttctctcctttgtaccattc	2	14	4	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:72076711C>T	uc001dfw.2	-	5	886	c.786G>A	c.(784-786)AAG>AAA	p.K262K	NEGR1_uc001dfv.2_Silent_p.K134K|NEGR1_uc010oqs.1_Silent_p.K218K	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1 precursor	262	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane				ovary(1)	1		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GTCCTCACTTCTTCTCTCCTT	0.448													T	72076711	C	T	72076711	2	4	92	1	0	0	0	0	0	0	0	1	10317	912	32	4		4	NEGR1	1	72076711	Silent	SNP	C	TCGA-BR-8485-01A-11D-2394-08	36825865	72076711	177173910	4	58728											
TNNI3K	51086	broad.mit.edu	37	chr1	74954890	74954890	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggaagacccgaattttcTgaagttgtcatgaagttaga	11	6	2	4			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:74954890T>G	uc001dgf.1	+	22	2190	c.2139T>G	c.(2137-2139)TCT>TCG	p.S713S	TNNI3K_uc001dge.1_Silent_p.S814S	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	713	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						CCGAATTTTCTGAAGTTGTCA	0.358													G	74954890	T	G	74954890	2	3	92	1	0	0	0	0	0	0	0	1	16326	1567	55	5		5	TNNI3K	1	74954890	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	2878179	74954890	174295731	5	58729											
C1orf173	127254	broad.mit.edu	37	chr1	75097545	75097545	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaactgttaatgtttggaAgttgatatgaattcattctc	8	4	2	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:75097545A>C	uc001dgg.2	-	7	890	c.671T>G	c.(670-672)CTT>CGT	p.L224R	C1orf173_uc001dgi.3_Missense_Mutation_p.L18R	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	224										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						AATGTTTGGAAGTTGATATGA	0.403													C	75097545	A	C	75097545	3	2	92	1	0	0	0	0	1	0	0	0	2014	72	3	5	3953	5	C1orf173	1	75097545	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	142655	75097545	174153076	6	58730											
IFI44L	10964	broad.mit.edu	37	chr1	79101176	79101176	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgccagacagatatcaggTaagatttcttcaatatccaa	6	8	3	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:79101176T>C	uc010oro.1	+	5	1055	c.876_splice	c.e5+2	p.Q292_splice	IFI44L_uc010orp.1_Splice_Site_p.Q29_splice|IFI44L_uc010orq.1_Splice_Site_p.Q29_splice	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like							cytoplasm					0						AGATATCAGGTAAGATTTCTT	0.378													C	79101176	T	C	79101176	5	2	92	1	0	0	0	0	0	0	1	0	7518	1652	57	3	892	3	IFI44L	1	79101176	Splice_Site	SNP	T	TCGA-BR-8485-01A-11D-2394-08	4003631	79101176	170149445	7	58731											
IFI44L	10964	broad.mit.edu	37	chr1	79102722	79102722	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgtttttataacagtttaaTtcccgtaaaccaattacacc	3	9	0	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:79102722T>A	uc010oro.1	+	6	1061	c.882T>A	c.(880-882)AAT>AAA	p.N294K	IFI44L_uc010orp.1_Missense_Mutation_p.N31K|IFI44L_uc010orq.1_Missense_Mutation_p.N31K	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	294						cytoplasm					0						AACAGTTTAATTCCCGTAAAC	0.358													A	79102722	T	A	79102722	3	1	92	1	0	0	0	0	1	0	0	0	7518	1490	52	5	900	5	IFI44L	1	79102722	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	1546	79102722	170147899	8	58732											
LPHN2	23266	broad.mit.edu	37	chr1	82447530	82447530	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttcgctcttctgtgtcttcTtggcctcacctggtcctttg	8	13	5	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:82447530T>A	uc001dit.3	+	18	3282	c.3101T>A	c.(3100-3102)CTT>CAT	p.L1034H	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.L1034H|LPHN2_uc001div.2_Missense_Mutation_p.L1034H|LPHN2_uc009wcd.2_Missense_Mutation_p.L1034H|LPHN2_uc001diw.2_Missense_Mutation_p.L618H|LPHN2_uc009wce.1_Missense_Mutation_p.L135H	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1047	Helical; Name=6; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTGTGTCTTCTTGGCCTCACC	0.403													A	82447530	T	A	82447530	3	1	92	1	0	0	0	0	1	0	0	0	8916	1609	56	5	3163	5	LPHN2	1	82447530	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	3344808	82447530	166803091	9	58733											
TTLL7	79739	broad.mit.edu	37	chr1	84412920	84412920	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattcagcaggaaagatccaAgttcgaggaacaaaggtata	10	6	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:84412920A>G	uc001djc.2	-	6	789	c.393T>C	c.(391-393)ACT>ACC	p.T131T	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	131	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GAAAGATCCAAGTTCGAGGAA	0.323													G	84412920	A	G	84412920	2	3	92	1	0	0	0	0	0	0	0	1	16729	59	3	3		3	TTLL7	1	84412920	Silent	SNP	A	TCGA-BR-8485-01A-11D-2394-08	1965390	84412920	164837701	10	58734											
RPTN	126638	broad.mit.edu	37	chr1	152127241	152127241	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctctgatggttctgctcGtcttcatgggtttgcctgtc	10	11	4	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:152127241G>A	uc001ezs.1	-	3	2399	c.2334C>T	c.(2332-2334)GAC>GAT	p.D778D		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	778	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0						GGTTCTGCTCGTCTTCATGGG	0.463													A	152127241	G	A	152127241	2	1	92	1	0	0	0	0	0	0	0	1	13664	1136	40	1		1	RPTN	1	152127241	Silent	SNP	G	TCGA-BR-8485-01A-11D-2394-08	67714321	152127241	97123380	11	58735											
LCE1C	353133	broad.mit.edu	37	chr1	152777850	152777850	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagagacaggagggcacttAgggggacactttgggggaca	18	6	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:152777850A>C	uc001fap.1	-	2	156	c.105T>G	c.(103-105)CCT>CCG	p.P35P		NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	35	Pro-rich.				keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGGGcacttagggggacact	0.428													C	152777850	A	C	152777850	2	2	92	1	0	0	0	0	0	0	0	1	8661	407	15	5		5	LCE1C	1	152777850	Silent	SNP	A	TCGA-BR-8485-01A-11D-2394-08	650609	152777850	96472771	12	58736											
OR10T2	128360	broad.mit.edu	37	chr1	158368403	158368403	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgtagacaagaggattaAgtaagggagtaaccactgtg	13	5	0	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:158368403A>C	uc010pih.1	-	1	854	c.854T>G	c.(853-855)CTT>CGT	p.L285R		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					AAGAGGATTAAGTAAGGGAGT	0.448													C	158368403	A	C	158368403	3	2	92	1	0	0	0	0	1	0	0	0	10919	72	3	5	92	5	OR10T2	1	158368403	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	5590553	158368403	90882218	13	58737											
OR6Y1	391112	broad.mit.edu	37	chr1	158517216	158517216	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatcctgaggatggtggcaAggatagcagcgtaggatgcc	17	7	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:158517216A>C	uc010pil.1	-	1	680	c.680T>G	c.(679-681)CTT>CGT	p.L227R		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					GATGGTGGCAAGGATAGCAGC	0.532													C	158517216	A	C	158517216	3	2	92	1	0	0	0	0	1	0	0	0	11213	72	3	5	299	5	OR6Y1	1	158517216	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	148813	158517216	90733405	14	58738											
SPTA1	6708	broad.mit.edu	37	chr1	158590195	158590195	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaagttttcttccatcTtttcacaccagttgttcaaa	4	11	4	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:158590195T>G	uc001fst.1	-	44	6381	c.6182A>C	c.(6181-6183)AAG>ACG	p.K2061T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2061	Spectrin 20.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TTCTTCCATCTTTTCACACCA	0.473													G	158590195	T	G	158590195	3	3	92	1	0	0	0	0	1	0	0	0	15115	1609	56	5	1113	5	SPTA1	1	158590195	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	72979	158590195	90660426	15	58739											
CADM3	57863	broad.mit.edu	37	chr1	159163747	159163747	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggttacccgggaggatgAtggggcgagcatcgtgtgct	17	9	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:159163747A>G	uc001ftl.2	+	5	750	c.608A>G	c.(607-609)GAT>GGT	p.D203G	CADM3_uc009wsy.1_Intron|CADM3_uc001ftk.2_Missense_Mutation_p.D237G	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	203	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					CGGGAGGATGATGGGGCGAGC	0.502													G	159163747	A	G	159163747	3	3	92	1	0	0	0	0	1	0	0	0	2568	333	12	3	732	3	CADM3	1	159163747	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	573552	159163747	90086874	16	58740											
CEP350	9857	broad.mit.edu	37	chr1	179965870	179965870	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctgtcatcaatgatacagTtgttaggtttttaaatgatc	7	5	3	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:179965870T>G	uc001gnt.2	+	6	961	c.578T>G	c.(577-579)GTT>GGT	p.V193G	CEP350_uc001gnr.1_Missense_Mutation_p.V167G|CEP350_uc009wxl.2_Missense_Mutation_p.V192G|CEP350_uc001gnu.2_Missense_Mutation_p.V27G	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	193						centrosome|nucleus|spindle				ovary(4)	4						AATGATACAGTTGTTAGGTTT	0.408													G	179965870	T	G	179965870	3	3	92	1	0	0	0	0	1	0	0	0	3254	1725	60	5	596	5	CEP350	1	179965870	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	20802123	179965870	69284751	17	58741											
CEP350	9857	broad.mit.edu	37	chr1	179972336	179972336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccttcagagaccaagattcGaacacctgatgggaaagtgt	10	10	1	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:179972336G>A	uc001gnt.2	+	7	1429	c.1046G>A	c.(1045-1047)CGA>CAA	p.R349Q	CEP350_uc009wxl.2_Missense_Mutation_p.R348Q|CEP350_uc001gnu.2_Missense_Mutation_p.R183Q	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	349						centrosome|nucleus|spindle				ovary(4)	4						ACCAAGATTCGAACACCTGAT	0.368													A	179972336	G	A	179972336	3	1	92	1	0	0	0	0	1	0	0	0	3254	1058	37	1	1068	1	CEP350	1	179972336	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	6466	179972336	69278285	18	58742											
HMCN1	83872	broad.mit.edu	37	chr1	186106025	186106025	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgaatgtgttgctcgaaActtaatgggttctgtccttg	10	6	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:186106025A>C	uc001grq.1	+	87	13767	c.13538A>C	c.(13537-13539)AAC>ACC	p.N4513T	HMCN1_uc001grs.1_Missense_Mutation_p.N82T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4513	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GTTGCTCGAAACTTAATGGGT	0.423													C	186106025	A	C	186106025	3	2	92	1	0	0	0	0	1	0	0	0	7220	43	2	5	13884	5	HMCN1	1	186106025	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	6133689	186106025	63144596	19	58743											
KCNT2	343450	broad.mit.edu	37	chr1	196459020	196459020	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tactcggattatgtataataAgcagcttagtaatttgagag	9	4	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:196459020A>C	uc001gtd.1	-	3	283	c.223T>G	c.(223-225)TTA>GTA	p.L75V	KCNT2_uc001gte.1_Missense_Mutation_p.L75V|KCNT2_uc001gtf.1_Missense_Mutation_p.L75V|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.L75V|KCNT2_uc009wyv.1_Missense_Mutation_p.L75V	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	75	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						ATGTATAATAAGCAGCTTAGT	0.303													C	196459020	A	C	196459020	3	2	92	1	0	0	0	0	1	0	0	0	8092	69	3	5	3288	5	KCNT2	1	196459020	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	10352995	196459020	52791601	20	58744											
CFHR5	81494	broad.mit.edu	37	chr1	196967334	196967334	+	Silent	SNP	T	T	C													aagctatctgggaaagaattTaatcataattctagaatacg							TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:196967334T>C	uc001gts.3	+	7	1175	c.1047T>C	c.(1045-1047)TTT>TTC	p.F349F		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	349	Sushi 6.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						GGAAAGAATTTAATCATAATT	0.333													C	196967334	T	C	196967334	2	2	92	1	0	0	0	0	0	0	0	1	3288	1751	61	3		3	CFHR5	1	196967334	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	508314	196967334	52283287	21	58745	258	2									
CFHR5	81494	broad.mit.edu	37	chr1	196967340	196967340	+	Missense_Mutation	SNP	T	T	G													tctgggaaagaatttaatcaTaattctagaatacgttacag							TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:196967340T>G	uc001gts.3	+	7	1181	c.1053T>G	c.(1051-1053)CAT>CAG	p.H351Q		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	351	Sushi 6.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						AATTTAATCATAATTCTAGAA	0.338													G	196967340	T	G	196967340	3	3	92	1	0	0	0	0	1	0	0	0	3288	1403	49	5	1079	5	CFHR5	1	196967340	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	6	196967340	52283281	22	58746	258	2									
CRB1	23418	broad.mit.edu	37	chr1	197390679	197390679	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatttcgtggaggtaatatTtgcagaggctgtgaccctta	12	7	0	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:197390679T>G	uc001gtz.2	+	6	1856	c.1721T>G	c.(1720-1722)TTT>TGT	p.F574C	CRB1_uc010poz.1_Missense_Mutation_p.F505C|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Missense_Mutation_p.F462C|CRB1_uc010ppb.1_Missense_Mutation_p.F574C|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.F55C|CRB1_uc001gub.1_Missense_Mutation_p.F223C	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	574	Extracellular (Potential).|Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						GAGGTAATATTTGCAGAGGCT	0.433													G	197390679	T	G	197390679	3	3	92	1	0	0	0	0	1	0	0	0	3848	1841	64	5	1743	5	CRB1	1	197390679	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	423339	197390679	51859942	23	58747											
USH2A	7399	broad.mit.edu	37	chr1	216258109	216258109	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgttatacacgttgaTttgttcttcagaactctgcc	7	11	3	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:216258109T>G	uc001hku.1	-	25	5485	c.5098A>C	c.(5098-5100)ATC>CTC	p.I1700L		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1700	Laminin G-like 1.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACACGTTGATTTGTTCTTCA	0.428										HNSCC(13;0.011)			G	216258109	T	G	216258109	3	3	92	1	0	0	0	0	1	0	0	0	17033	1493	52	5	10702	5	USH2A	1	216258109	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	18867430	216258109	32992512	24	58748											
PCNXL2	80003	broad.mit.edu	37	chr1	233134183	233134183	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcattgcaatccttccgcaTcctgtgggagggagaagtcc	13	11	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:233134183T>A	uc001hvl.2	-	32	5840	c.5605A>T	c.(5605-5607)ATG>TTG	p.M1869L	PCNXL2_uc001hvk.1_Missense_Mutation_p.M521L|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1869						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				TCCTTCCGCATCCTGTGGGAG	0.582													A	233134183	T	A	233134183	3	1	92	1	0	0	0	0	1	0	0	0	11592	1449	50	5	820	5	PCNXL2	1	233134183	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	16876074	233134183	16116438	25	58749											
LYST	1130	broad.mit.edu	37	chr1	235904748	235904748	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgggctgagacagtctcGtagtatttcctgatgatttg	13	6	1	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:235904748G>A	uc001hxj.2	-	31	8507	c.8332C>T	c.(8332-8334)CGA>TGA	p.R2778*	LYST_uc009xga.1_Nonsense_Mutation_p.R414*	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2778					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGACAGTCTCGTAGTATTTCC	0.388									Chediak-Higashi_syndrome				A	235904748	G	A	235904748	4	1	92	1	0	0	0	0	0	1	0	0	9128	1153	40	1	3165	1	LYST	1	235904748	Nonsense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	2770565	235904748	13345873	26	58750											
MTR	4548	broad.mit.edu	37	chr1	237049613	237049613	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggagatacttacccttaAgtcaagccagaaaaagtggt	10	7	1	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:237049613A>C	uc001hyi.3	+	27	3220	c.2797A>C	c.(2797-2799)AGT>CGT	p.S933R	MTR_uc010pxw.1_Missense_Mutation_p.S526R|MTR_uc010pxx.1_Missense_Mutation_p.S882R|MTR_uc010pxy.1_Missense_Mutation_p.S787R	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	933	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CTTACCCTTAAGTCAAGCCAG	0.413													C	237049613	A	C	237049613	3	2	92	1	0	0	0	0	1	0	0	0	9958	72	3	5	2903	5	MTR	1	237049613	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	1144865	237049613	12201008	27	58751											
FMN2	56776	broad.mit.edu	37	chr1	240374532	240374532	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atctcaaagacgaaggctaaAcaagtgagtatttttgtgct	9	6	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:240374532A>C	uc010pyd.1	+	6	4287	c.4062A>C	c.(4060-4062)AAA>AAC	p.K1354N	FMN2_uc010pye.1_Missense_Mutation_p.K1358N	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1354	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGAAGGCTAAACAAGTGAGTA	0.338													C	240374532	A	C	240374532	3	2	92	1	0	0	0	0	1	0	0	0	5950	40	2	5	4084	5	FMN2	1	240374532	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	3324919	240374532	8876089	28	58752											
OR2L2	26246	broad.mit.edu	37	chr1	248202142	248202142	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgctagcctgcacagacacTtgggtctatgagagcacagt	11	11	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:248202142T>C	uc001idw.2	+	1	669	c.573T>C	c.(571-573)ACT>ACC	p.T191T	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	191	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCACAGACACTTGGGTCTATG	0.458													C	248202142	T	C	248202142	2	2	92	1	0	0	0	0	0	0	0	1	11007	1596	56	3		3	OR2L2	1	248202142	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	7827610	248202142	1048479	29	58753											
OR2T5	401993	broad.mit.edu	37	chr1	248651944	248651944	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagttggatttcatcctcAtgggactcttcagacgatcc	9	10	4	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:248651944A>C	uc001iem.1	+	1	55	c.55A>C	c.(55-57)ATG>CTG	p.M19L		NM_001004697	NP_001004697	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T,	19	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTCATCCTCATGGGACTCTT	0.483													C	248651944	A	C	248651944	3	2	92	1	0	0	0	0	1	0	0	0	11028	217	8	5	57	5	OR2T5	1	248651944	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	449802	248651944	598677	30	58754											
SOCS5	9655	broad.mit.edu	37	chr2	46986226	46986226	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggttgcaggatactgtggGcttgtgttttcccatgagaa	14	6	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:46986226G>T	uc002rvf.2	+	2	721	c.557G>T	c.(556-558)GGC>GTC	p.G186V	SOCS5_uc010yoe.1_Missense_Mutation_p.G155V|SOCS5_uc002rvg.2_Missense_Mutation_p.G186V	NM_014011	NP_054730	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	186					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					ovary(1)|lung(1)|central_nervous_system(1)	3		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GATACTGTGGGCTTGTGTTTT	0.453													T	46986226	G	T	46986226	3	4	92	1	0	0	0	0	1	0	0	0	14917	1203	42	5	559	5	SOCS5	2	46986226	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08		46986226	196213147	31	58755											
FSHR	2492	broad.mit.edu	37	chr2	49191060	49191060	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagtcatataatcaacTtcttgccttaaaatagattt	5	8	3	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:49191060T>G	uc002rww.2	-	10	974	c.900A>C	c.(898-900)GAA>GAC	p.E300D	FSHR_uc002rwx.2_Missense_Mutation_p.E238D|FSHR_uc010fbn.2_Missense_Mutation_p.E274D	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	300	Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TATAATCAACTTCTTGCCTTA	0.388									Gonadal_Dysgenesis_46_XX				G	49191060	T	G	49191060	3	3	92	1	0	0	0	0	1	0	0	0	6073	1606	56	5	1191	5	FSHR	2	49191060	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	2204834	49191060	194008313	32	58756											
NRXN1	9378	broad.mit.edu	37	chr2	50779932	50779932	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcttgccatggctaaataAgatgaggccatttggctctg	12	8	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:50779932A>C	uc010fbq.2	-	9	3149	c.1672T>G	c.(1672-1674)TTA>GTA	p.L558V	NRXN1_uc002rxb.3_Missense_Mutation_p.L190V|NRXN1_uc002rxe.3_Missense_Mutation_p.L518V|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGGCTAAATAAGATGAGGCCA	0.433													C	50779932	A	C	50779932	3	2	92	1	0	0	0	0	1	0	0	0	10665	69	3	5	3294	5	NRXN1	2	50779932	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	1588872	50779932	192419441	33	58757											
AFTPH	54812	broad.mit.edu	37	chr2	64779733	64779733	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcatggattctgttaaaacTtctgatgatgaagttggttc	10	5	2	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:64779733T>A	uc002sdc.2	+	1	1157	c.1125T>A	c.(1123-1125)ACT>ACA	p.T375T	AFTPH_uc002scz.2_Silent_p.T375T|AFTPH_uc002sda.2_Silent_p.T375T|AFTPH_uc002sdb.2_Silent_p.T375T	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	375					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						CTGTTAAAACTTCTGATGATG	0.343													A	64779733	T	A	64779733	2	1	92	1	0	0	0	0	0	0	0	1	364	1596	56	5		5	AFTPH	2	64779733	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	13999801	64779733	178419640	34	58758											
MEIS1	4211	broad.mit.edu	37	chr2	66796234	66796234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggaggggcagtggcactaCatgtaaccttcatctagtta	11	8	2	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:66796234C>T	uc002sdu.2	+	12	1624	c.1167C>T	c.(1165-1167)TAC>TAT	p.Y389Y	MEIS1_uc002sdt.2_3'UTR|MEIS1_uc002sdv.2_Intron|MEIS1_uc010yqh.1_Intron|MEIS1_uc010yqi.1_Silent_p.Y324Y|MEIS1_uc002sdw.1_Silent_p.Y245Y	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Meis homeobox 1	389	Required for transcriptional activation (By similarity).						sequence-specific DNA binding transcription factor activity				0						AGTGGCACTACATGTAACCTT	0.433													T	66796234	C	T	66796234	2	4	92	1	0	0	0	0	0	0	0	1	9467	489	17	4		4	MEIS1	2	66796234	Silent	SNP	C	TCGA-BR-8485-01A-11D-2394-08	2016501	66796234	176403139	35	58759											
SULT1C3	442038	broad.mit.edu	37	chr2	108872118	108872118	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatgcctgatcctcagaacTtagaggaattttatgagaaa	8	6	1	4			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:108872118T>G	uc010ywo.1	+	4	490	c.490T>G	c.(490-492)TTA>GTA	p.L164V		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member	164						cytoplasm	alcohol sulfotransferase activity			skin(1)	1						TCCTCAGAACTTAGAGGAATT	0.418													G	108872118	T	G	108872118	3	3	92	1	0	0	0	0	1	0	0	0	15375	1606	56	5	504	5	SULT1C3	2	108872118	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	42075884	108872118	134327255	36	58760											
MYO7B	4648	broad.mit.edu	37	chr2	128366344	128366344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctctccctgccaagaagcGcagatccatctacgacaccg	8	17	2	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:128366344G>A	uc002top.2	+	22	2758	c.2705G>A	c.(2704-2706)CGC>CAC	p.R902H		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	902						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCCAAGAAGCGCAGATCCATC	0.657													A	128366344	G	A	128366344	3	1	92	1	0	0	0	0	1	0	0	0	10083	1087	38	1	2787	1	MYO7B	2	128366344	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	19494226	128366344	114833029	37	58761											
ZRANB3	84083	broad.mit.edu	37	chr2	136023244	136023244	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctaccgttcagtgtgctccCtgtaacttgagcctacaaga	8	13	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:136023244C>G	uc002tum.2	-	12	1516	c.1399G>C	c.(1399-1401)GGG>CGG	p.G467R	ZRANB3_uc002tuk.2_Missense_Mutation_p.G10R|ZRANB3_uc002tul.2_Missense_Mutation_p.G467R	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	467	Helicase C-terminal.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)		AGTGTGCTCCCTGTAACTTGA	0.383													G	136023244	C	G	136023244	3	3	92	1	0	0	0	0	1	0	0	0	18221	681	24	5	1880	5	ZRANB3	2	136023244	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	7656900	136023244	107176129	38	58762											
LRP1B	53353	broad.mit.edu	37	chr2	141200150	141200150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttggaaatgcaatgcttcGtagtcttacactggaaatag	10	7	1	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:141200150G>A	uc002tvj.1	-	66	11309	c.10337C>T	c.(10336-10338)ACG>ATG	p.T3446M		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3446	Extracellular (Potential).|LDL-receptor class A 24.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCAATGCTTCGTAGTCTTACA	0.428										TSP Lung(27;0.18)			A	141200150	G	A	141200150	3	1	92	1	0	0	0	0	1	0	0	0	8955	1145	40	1	3566	1	LRP1B	2	141200150	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	5176906	141200150	101999223	39	58763											
GTDC1	79712	broad.mit.edu	37	chr2	144764977	144764977	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacactctgaattaaaattcTtcaataaatcctctgaatct	2	10	5	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:144764977T>G	uc002tvp.2	-	7	926	c.647A>C	c.(646-648)AAG>ACG	p.K216T	GTDC1_uc002tvo.2_Missense_Mutation_p.K216T|GTDC1_uc002tvq.2_Intron|GTDC1_uc002tvr.2_Missense_Mutation_p.K216T|GTDC1_uc010fnn.2_Missense_Mutation_p.K216T|GTDC1_uc002tvs.2_Missense_Mutation_p.K184T|GTDC1_uc010fno.2_Missense_Mutation_p.K87T|GTDC1_uc002tvt.1_Missense_Mutation_p.K216T	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	216					biosynthetic process		transferase activity, transferring glycosyl groups			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0914)		ATTAAAATTCTTCAATAAATC	0.418													G	144764977	T	G	144764977	3	3	92	1	0	0	0	0	1	0	0	0	6851	1609	56	5	753	5	GTDC1	2	144764977	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	3564827	144764977	98434396	40	58764											
KCNJ3	3760	broad.mit.edu	37	chr2	155555450	155555450	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acaagaacggccggtgcaatGtacagcacggcaacctgggc	13	12	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:155555450G>C	uc002tyv.1	+	1	358	c.163G>C	c.(163-165)GTA>CTA	p.V55L	KCNJ3_uc010zce.1_Missense_Mutation_p.V55L	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	55	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	CCGGTGCAATGTACAGCACGG	0.627													C	155555450	G	C	155555450	3	2	92	1	0	0	0	0	1	0	0	0	8052	1377	48	5	165	5	KCNJ3	2	155555450	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	10790473	155555450	87643923	41	58765											
SLC4A10	57282	broad.mit.edu	37	chr2	162815046	162815046	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtttctttatatgggtgcttCatctctaaagggaattcagg	10	6	4	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:162815046C>T	uc002ubx.3	+	21	3027	c.2843C>T	c.(2842-2844)TCA>TTA	p.S948L	SLC4A10_uc002uby.3_Missense_Mutation_p.S918L|SLC4A10_uc010zcs.1_Missense_Mutation_p.S929L	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	948	Helical; (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						ATGGGTGCTTCATCTCTAAAG	0.368													T	162815046	C	T	162815046	3	4	92	1	0	0	0	0	1	0	0	0	14651	838	29	4	3010	4	SLC4A10	2	162815046	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	7259596	162815046	80384327	42	58766											
SCN9A	6335	broad.mit.edu	37	chr2	167141153	167141153	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttactgctgcgtcgctccTggggtctgtggggcacaaac	14	11	1	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:167141153T>C	uc010fpl.2	-	12	2125	c.1784A>G	c.(1783-1785)CAG>CGG	p.Q595R	uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.Q466R|SCN9A_uc002uds.1_Missense_Mutation_p.Q466R|SCN9A_uc002udt.1_Missense_Mutation_p.Q466R	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	595						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCGTCGCTCCTGGGGTCTGTG	0.537													C	167141153	T	C	167141153	3	2	92	1	0	0	0	0	1	0	0	0	13925	1580	55	3	4213	3	SCN9A	2	167141153	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	4326107	167141153	76058220	43	58767											
TTN	7273	broad.mit.edu	37	chr2	179485466	179485466	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tactattagattggctgcacTtttaacattttcacctctgt	5	9	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:179485466T>G	uc010zfg.1	-	196	38391	c.38167A>C	c.(38167-38169)AGT>CGT	p.S12723R	TTN_uc010zfh.1_Missense_Mutation_p.S6418R|TTN_uc010zfi.1_Missense_Mutation_p.S6351R|TTN_uc010zfj.1_Missense_Mutation_p.S6226R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13650							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGCTGCACTTTTAACATTT	0.313													G	179485466	T	G	179485466	3	3	92	1	0	0	0	0	1	0	0	0	16732	1609	56	5	62286	5	TTN	2	179485466	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	12344313	179485466	63713907	44	58768											
TTN	7273	broad.mit.edu	37	chr2	179603061	179603061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtgctacttccaggggttCgattttcctcttgatcactg	9	11	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:179603061C>T	uc010zfg.1	-	46	10611	c.10387G>A	c.(10387-10389)GAA>AAA	p.E3463K	TTN_uc010zfh.1_Missense_Mutation_p.E4536K|TTN_uc010zfi.1_Missense_Mutation_p.E4469K|TTN_uc010zfj.1_Missense_Mutation_p.E4344K|TTN_uc002umz.1_Missense_Mutation_p.E124K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4390							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGGGGTTCGATTTTCCTC	0.463													T	179603061	C	T	179603061	3	4	92	1	0	0	0	0	1	0	0	0	16732	893	31	1	90666	1	TTN	2	179603061	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	117595	179603061	63596312	45	58769											
TTN	7273	broad.mit.edu	37	chr2	179615852	179615852	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgatctaccttataacTttcagctagatcagacatag	6	8	3	4			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:179615852T>A	uc002unb.2	-	46	11499	c.11275A>T	c.(11275-11277)AGT>TGT	p.S3759C	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTATAACTTTCAGCTAGA	0.358													A	179615852	T	A	179615852	3	1	92	1	0	0	0	0	1	0	0	0	16732	1609	56	5	99022	5	TTN	2	179615852	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	12791	179615852	63583521	46	58770											
ITGA4	3676	broad.mit.edu	37	chr2	182374426	182374426	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accccaattcagattgaagcTgcttaccaccttggtcctca	6	14	2	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:182374426T>C	uc002unu.2	+	16	2500	c.1737T>C	c.(1735-1737)GCT>GCC	p.A579A	ITGA4_uc010frj.1_Silent_p.A61A	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	579	Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGATTGAAGCTGCTTACCACC	0.383													C	182374426	T	C	182374426	2	2	92	1	0	0	0	0	0	0	0	1	7878	1567	55	3		3	ITGA4	2	182374426	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	2758574	182374426	60824947	47	58771											
ZSWIM2	151112	broad.mit.edu	37	chr2	187692958	187692958	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtcttctttaggttgtggTtattacatttacagcctttg	9	6	2	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:187692958T>G	uc002upu.1	-	9	1695	c.1655A>C	c.(1654-1656)AAC>ACC	p.N552T		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	552					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TAGGTTGTGGTTATTACATTT	0.393													G	187692958	T	G	187692958	3	3	92	1	0	0	0	0	1	0	0	0	18238	1725	60	5	250	5	ZSWIM2	2	187692958	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	5318532	187692958	55506415	48	58772											
ERBB4	2066	broad.mit.edu	37	chr2	212248779	212248779	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttctcctccactggattcAggtattctaaaggaataaaa	8	8	3	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:212248779A>G	uc002veg.1	-	28	3586	c.3488T>C	c.(3487-3489)CTG>CCG	p.L1163P	ERBB4_uc002veh.1_Missense_Mutation_p.L1147P|ERBB4_uc010zji.1_Missense_Mutation_p.L1153P|ERBB4_uc010zjj.1_Missense_Mutation_p.L1137P	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1163	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CACTGGATTCAGGTATTCTAA	0.373										TSP Lung(8;0.080)			G	212248779	A	G	212248779	3	3	92	1	0	0	0	0	1	0	0	0	5209	188	7	3	442	3	ERBB4	2	212248779	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	24555821	212248779	30950594	49	58773											
ABCA12	26154	broad.mit.edu	37	chr2	215855595	215855595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaccgagaagctgtagtccGaaaaatacaggaacaaaatg	9	7	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:215855595G>A	uc002vew.2	-	24	3675	c.3455C>T	c.(3454-3456)TCG>TTG	p.S1152L	ABCA12_uc002vev.2_Missense_Mutation_p.S834L|ABCA12_uc010zjn.1_Missense_Mutation_p.S79L	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1152	Helical; (Potential).				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCTGTAGTCCGAAAAATACAG	0.388													A	215855595	G	A	215855595	3	1	92	1	0	0	0	0	1	0	0	0	30	1059	37	1	4452	1	ABCA12	2	215855595	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	3606816	215855595	27343778	50	58774											
SPHKAP	80309	broad.mit.edu	37	chr2	228884001	228884001	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggggaaagttcgagaccacTtgctccattttgagtctttc	11	9	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:228884001T>G	uc002vpq.2	-	7	1616	c.1569A>C	c.(1567-1569)CAA>CAC	p.Q523H	SPHKAP_uc002vpp.2_Missense_Mutation_p.Q523H|SPHKAP_uc010zlx.1_Missense_Mutation_p.Q523H	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	523						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCGAGACCACTTGCTCCATTT	0.512													G	228884001	T	G	228884001	3	3	92	1	0	0	0	0	1	0	0	0	15047	1606	56	5	3557	5	SPHKAP	2	228884001	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	13028406	228884001	14315372	51	58775											
SP140	11262	broad.mit.edu	37	chr2	231157373	231157373	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttacaggaatcttggtgaAgtgtatacagactgaggatg	12	5	2	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:231157373A>C	uc002vql.2	+	20	1953	c.1838A>C	c.(1837-1839)AAG>ACG	p.K613T	SP140_uc010zma.1_RNA|SP140_uc002vqn.2_Missense_Mutation_p.K499T|SP140_uc002vqm.2_Missense_Mutation_p.K553T|SP140_uc010fxl.2_Missense_Mutation_p.K586T	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	613	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATCTTGGTGAAGTGTATACAG	0.498													C	231157373	A	C	231157373	3	2	92	1	0	0	0	0	1	0	0	0	14962	72	3	5	2033	5	SP140	2	231157373	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	2273372	231157373	12042000	52	58776											
C3orf20	84077	broad.mit.edu	37	chr3	14803068	14803068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctgaaacagatcttccGgtctcaacaggattacaaga	8	10	3	3	rs140063791	byFrequency	TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:14803068G>A	uc003byy.2	+	15	2845	c.2441G>A	c.(2440-2442)CGG>CAG	p.R814Q	C3orf20_uc003byz.2_Missense_Mutation_p.R692Q|C3orf20_uc003bza.2_Missense_Mutation_p.R692Q|C3orf20_uc003bzb.1_Missense_Mutation_p.R315Q|C3orf20_uc011avj.1_Missense_Mutation_p.R141Q	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	814						cytoplasm|integral to membrane				ovary(3)|skin(1)	4						CAGATCTTCCGGTCTCAACAG	0.502													A	14803068	G	A	14803068	3	1	92	1	0	0	0	0	1	0	0	0	2213	1116	39	1	2491	1	C3orf20	3	14803068	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08		14803068	183219362	53	58777											
SH3BP5	9467	broad.mit.edu	37	chr3	15300337	15300337	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtggagcccctgacttaCcagaaatggcatcaggctca	10	13	2	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:15300337C>T	uc003bzp.1	-	7	1078	c.889_splice	c.e7+1	p.V297_splice	SH3BP5_uc010hem.1_Splice_Site|SH3BP5_uc003bzq.1_Splice_Site_p.V140_splice|SH3BP5_uc003bzr.1_Splice_Site_p.V140_splice|uc003bzo.1_RNA	NM_004844	NP_004835	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)						intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding				0						CCCTGACTTACCAGAAATGGC	0.557													T	15300337	C	T	15300337	5	4	92	1	0	0	0	0	0	0	1	0	14247	521	18	4	489	4	SH3BP5	3	15300337	Splice_Site	SNP	C	TCGA-BR-8485-01A-11D-2394-08	497269	15300337	182722093	54	58778											
ZCWPW2	152098	broad.mit.edu	37	chr3	28566074	28566074	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttgaaaaccactatgaAgaggactatcttgtaattga	8	6	1	4			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:28566074A>G	uc003ceh.2	+	10	1134	c.966A>G	c.(964-966)GAA>GAG	p.E322E	ZCWPW2_uc003cei.2_Silent_p.E322E|ZCWPW2_uc010hfo.2_Silent_p.E127E	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	322							zinc ion binding			ovary(2)	2						ACCACTATGAAGAGGACTATC	0.333													G	28566074	A	G	28566074	2	3	92	1	0	0	0	0	0	0	0	1	17595	69	3	3		3	ZCWPW2	3	28566074	Silent	SNP	A	TCGA-BR-8485-01A-11D-2394-08	13265737	28566074	169456356	55	58779											
ACVR2B	93	broad.mit.edu	37	chr3	38524780	38524780	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctcgtttccctggtgacctCtgtcaccaatgtggacctgc	9	14	3	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:38524780C>T	uc003cif.2	+	11	1520	c.1496C>T	c.(1495-1497)TCT>TTT	p.S499F	ACVR2B_uc003cig.2_Missense_Mutation_p.S290F	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	499	Cytoplasmic (Potential).				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CTGGTGACCTCTGTCACCAAT	0.552													T	38524780	C	T	38524780	3	4	92	1	0	0	0	0	1	0	0	0	224	913	32	4	1538	4	ACVR2B	3	38524780	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	9958706	38524780	159497650	56	58780											
CNTN3	5067	broad.mit.edu	37	chr3	74350898	74350898	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttctttccaagagagTtgggctgttgtgtctgtaat	10	7	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:74350898T>C	uc003dpm.1	-	14	1925	c.1845A>G	c.(1843-1845)CAA>CAG	p.Q615Q		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	615	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCCAAGAGAGTTGGGCTGTTG	0.453													C	74350898	T	C	74350898	2	2	92	1	0	0	0	0	0	0	0	1	3642	1722	60	3		3	CNTN3	3	74350898	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	35826118	74350898	123671532	57	58781											
EPHA6	285220	broad.mit.edu	37	chr3	96706694	96706694	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggttgattcctcctctttggTtgaagtacggggttcttgtg	13	7	2	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:96706694T>A	uc010how.1	+	3	1014	c.971T>A	c.(970-972)GTT>GAT	p.V324D	EPHA6_uc003drp.1_Missense_Mutation_p.V324D	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	229	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						TCCTCTTTGGTTGAAGTACGG	0.478													A	96706694	T	A	96706694	3	1	92	1	0	0	0	0	1	0	0	0	5171	1725	60	5	981	5	EPHA6	3	96706694	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	22355796	96706694	101315736	58	58782											
OR5H15	403274	broad.mit.edu	37	chr3	97887637	97887637	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacccctgttcttggcattcTtggtaatatatctcatcacc	5	12	4	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:97887637T>G	uc011bgu.1	+	1	94	c.94T>G	c.(94-96)TTG>GTG	p.L32V		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CTTGGCATTCTTGGTAATATA	0.418													G	97887637	T	G	97887637	3	3	92	1	0	0	0	0	1	0	0	0	11161	1606	56	5	96	5	OR5H15	3	97887637	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	1180943	97887637	100134793	59	58783											
IFT57	55081	broad.mit.edu	37	chr3	107910459	107910460	+	Frame_Shift_Del	DEL	AT	AT	-													catctgttgtggattccaaaAtatcttcttgtttggcagtc							TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:107910459_107910460delAT	uc003dwx.3	-	6	933_934	c.685_686delAT	c.(685-687)ATTfs	p.I229fs		NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	estrogen-related receptor beta like 1	229					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			ovary(1)|skin(1)|pancreas(1)	3			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			GGATTCCAAAATATCTTCTTGT	0.371													-	107910460	AT	-	107910459	7	5	92	1	0	1	0	1	0	0	0	0	7562	101	4	0	627	0	IFT57	3	107910459	Frame_Shift_Del	DEL	AT	TCGA-BR-8485-01A-11D-2394-08	10022822	107910459	90111971	60	58784											
ZBED2	79413	broad.mit.edu	37	chr3	111312683	111312683	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccgtggggccttggatcCtggcgctgcccagcctgacc	15	16	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:111312683C>T	uc003dxy.2	-	2	1251	c.366G>A	c.(364-366)CAG>CAA	p.Q122Q	CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	zinc finger, BED domain containing 2	122							DNA binding|metal ion binding			skin(1)	1						GCCTTGGATCCTGGCGCTGCC	0.627													T	111312683	C	T	111312683	2	4	92	1	0	0	0	0	0	0	0	1	17515	680	24	4		4	ZBED2	3	111312683	Silent	SNP	C	TCGA-BR-8485-01A-11D-2394-08	3402224	111312683	86709747	61	58785											
TF	7018	broad.mit.edu	37	chr3	133476714	133476715	+	Frame_Shift_Ins	INS	-	-	C													cccacgggtttttaaaagtcINSccccccaggatggatgccaa					rs148358704		TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:133476713_133476714T>TC	uc003epu.2	+	12	2699_2700	c.971_972T>TC	c.(970-972)gtcfs	p.V324fs	TF_uc011blt.2_Frame_Shift_Ins_p.V197fs|TF_uc003epw.2_Intron|TF_uc003epv.2_Frame_Shift_Ins_p.V324fs	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	324	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TTTTTAAAAGTCCCCCCCAGGA	0.485													C	133476715	-	C	133476714	7	5	92	1	0	1	1	0	0	0	0	0	15782	842	30	0	1002	0	TF	3	133476714	Frame_Shift_Ins	INS	-	TCGA-BR-8485-01A-11D-2394-08	22164031	133476714	64545716	62	58786											
SLCO2A1	6578	broad.mit.edu	37	chr3	133748643	133748643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgagcttgggcaggagccCcatggctgcgggcggctggc	19	13	0	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:133748643C>T	uc003eqa.3	-	1	278	c.4G>A	c.(4-6)GGG>AGG	p.G2R	SLCO2A1_uc003eqb.3_Missense_Mutation_p.G2R|SLCO2A1_uc011blv.1_Missense_Mutation_p.G2R|SLCO2A1_uc010htw.1_5'UTR	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	2	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1						GGCAGGAGCCCCATGGCTGCG	0.766													T	133748643	C	T	133748643	3	4	92	1	0	0	0	0	1	0	0	0	14726	623	22	4	1983	4	SLCO2A1	3	133748643	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	271929	133748643	64273787	63	58787											
SLITRK3	22865	broad.mit.edu	37	chr3	164905856	164905856	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctgtaagtctgggtaTtgcatgccaggagggtgcac	14	9	1	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:164905856T>C	uc003fej.3	-	2	3207	c.2763A>G	c.(2761-2763)CAA>CAG	p.Q921Q	SLITRK3_uc003fek.2_Silent_p.Q921Q	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	921	Cytoplasmic (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						AGTCTGGGTATTGCATGCCAG	0.527										HNSCC(40;0.11)			C	164905856	T	C	164905856	2	2	92	1	0	0	0	0	0	0	0	1	14744	1490	52	3		3	SLITRK3	3	164905856	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	31157213	164905856	33116574	64	58788											
OSTN	344901	broad.mit.edu	37	chr3	190936627	190936627	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagcaaaactcttgcttcTtgatgaattggtgtccctag	9	9	2	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:190936627T>G	uc011bsn.1	+	2	194	c.194T>G	c.(193-195)CTT>CGT	p.L65R		NM_198184	NP_937827	P61366	OSTN_HUMAN	osteocrin precursor	65					cell differentiation|multicellular organismal development|ossification		hormone activity			pancreas(1)|skin(1)	2	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		CTCTTGCTTCTTGATGAATTG	0.458													G	190936627	T	G	190936627	3	3	92	1	0	0	0	0	1	0	0	0	11299	1609	56	5	200	5	OSTN	3	190936627	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	26030771	190936627	7085803	65	58789											
CCDC50	152137	broad.mit.edu	37	chr3	191074885	191074885	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	catctactctagtatgccgaGattttgctgtcctggaggac	10	10	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:191074885G>C	uc003fsw.2	+	2	648	c.58G>C	c.(58-60)GAT>CAT	p.D20H	CCDC50_uc003fsv.2_Missense_Mutation_p.D20H	NM_174908	NP_777568	Q8IVM0	CCD50_HUMAN	Ymer protein short isoform	20						cytoplasm	protein binding				0	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AGTATGCCGAGATTTTGCTGT	0.378													C	191074885	G	C	191074885	3	2	92	1	0	0	0	0	1	0	0	0	2820	942	33	5	64	5	CCDC50	3	191074885	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	138258	191074885	6947545	66	58790											
EVC2	132884	broad.mit.edu	37	chr4	5696169	5696169	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccactagaggctgcagaagTtgagagtgggatgaagactt	14	7	0	5			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr4:5696169T>C	uc003gij.2	-	3	397	c.343A>G	c.(343-345)ACT>GCT	p.T115A	EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.T35A	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	115						integral to membrane				large_intestine(3)|ovary(2)	5						GCTGCAGAAGTTGAGAGTGGG	0.418													C	5696169	T	C	5696169	3	2	92	1	0	0	0	0	1	0	0	0	5286	1725	60	3	3663	3	EVC2	4	5696169	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08		5696169	185458107	67	58791											
ODAM	54959	broad.mit.edu	37	chr4	71068595	71068595	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accaatgttttcacttctgcTgtagaccaaactattacccc	4	13	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr4:71068595T>A	uc003hfc.2	+	9	788	c.771T>A	c.(769-771)GCT>GCA	p.A257A		NM_017855	NP_060325	A1E959	ODAM_HUMAN	odontogenic ameloblast-associated protein	257					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				ovary(3)|large_intestine(1)	4						TCACTTCTGCTGTAGACCAAA	0.378													A	71068595	T	A	71068595	2	1	92	1	0	0	0	0	0	0	0	1	10824	1567	55	5		5	ODAM	4	71068595	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	65372426	71068595	120085681	68	58792											
IBSP	3381	broad.mit.edu	37	chr4	88732666	88732666	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtaccaacagcacagaggcAgaaaacggcaacggcagcag	12	11	0	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr4:88732666A>G	uc003hqx.3	+	7	656	c.558A>G	c.(556-558)GCA>GCG	p.A186A		NM_004967	NP_004958	P21815	SIAL_HUMAN	integrin-binding sialoprotein precursor	186					biomineral tissue development|cell adhesion|ossification						0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GCACAGAGGCAGAAAACGGCA	0.403													G	88732666	A	G	88732666	2	3	92	1	0	0	0	0	0	0	0	1	7475	175	7	3		3	IBSP	4	88732666	Silent	SNP	A	TCGA-BR-8485-01A-11D-2394-08	17664071	88732666	102421610	69	58793											
PPM1K	152926	broad.mit.edu	37	chr4	89198370	89198370	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggtcaacagagtttccaAgttcttctccttaggaagca	8	10	3	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr4:89198370A>C	uc003hrm.3	-	3	856	c.466T>G	c.(466-468)TTG>GTG	p.L156V	PPM1K_uc010ikp.1_Missense_Mutation_p.L156V|PPM1K_uc003hrn.2_Missense_Mutation_p.L156V	NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN	protein phosphatase 1K (PP2C domain containing)	156	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		AGAGTTTCCAAGTTCTTCTCC	0.398													C	89198370	A	C	89198370	3	2	92	1	0	0	0	0	1	0	0	0	12343	69	3	5	672	5	PPM1K	4	89198370	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	465704	89198370	101955906	70	58794											
USP38	84640	broad.mit.edu	37	chr4	144134809	144134809	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attctggaatgcagtgaaacTtctttacaggaagtagctag	10	6	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr4:144134809T>G	uc003ijb.2	+	9	2214	c.1680T>G	c.(1678-1680)ACT>ACG	p.T560T	USP38_uc003ija.3_Silent_p.T560T|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	560					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)					GCAGTGAAACTTCTTTACAGG	0.403													G	144134809	T	G	144134809	2	3	92	1	0	0	0	0	0	0	0	1	17066	1596	56	5		5	USP38	4	144134809	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	54936439	144134809	47019467	71	58795											
FBXW7	55294	broad.mit.edu	37	chr4	153251934	153251934	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttagtatcaattctgtgctGtctgatgtatgcacttttcc	8	8	3	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr4:153251934G>A	uc003ims.2	-	7	1221	c.1072C>T	c.(1072-1074)CAG>TAG	p.Q358*	FBXW7_uc011cii.1_Nonsense_Mutation_p.Q358*|FBXW7_uc003imt.2_Nonsense_Mutation_p.Q358*|FBXW7_uc011cih.1_Nonsense_Mutation_p.Q182*|FBXW7_uc003imq.2_Nonsense_Mutation_p.Q278*|FBXW7_uc003imr.2_Nonsense_Mutation_p.Q240*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	358					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATTCTGTGCTGTCTGATGTAT	0.393			Mis|N|D|F		colorectal|endometrial|T-ALL								A	153251934	G	A	153251934	4	1	92	1	0	0	0	0	0	1	0	0	5769	1386	48	4	1075	4	FBXW7	4	153251934	Nonsense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	9117125	153251934	37902342	72	58796											
RBM46	166863	broad.mit.edu	37	chr4	155719399	155719399	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatatgaatctcacagagcTgctgctatggcaaggaggaa	12	7	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr4:155719399T>C	uc003ioo.2	+	3	761	c.588T>C	c.(586-588)GCT>GCC	p.A196A	RBM46_uc011cim.1_Silent_p.A196A|RBM46_uc003iop.1_Silent_p.A196A	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	196	RRM 2.						nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				CTCACAGAGCTGCTGCTATGG	0.358													C	155719399	T	C	155719399	2	2	92	1	0	0	0	0	0	0	0	1	13140	1567	55	3		3	RBM46	4	155719399	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	2467465	155719399	35434877	73	58797											
TLL1	7092	broad.mit.edu	37	chr4	166999084	166999084	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagaagatccacagtccaAgtggcctcatcaccagtccc	7	15	2	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr4:166999084A>C	uc003irh.1	+	18	2991	c.2344A>C	c.(2344-2346)AGT>CGT	p.S782R	TLL1_uc011cjn.1_Missense_Mutation_p.S805R|TLL1_uc011cjo.1_Missense_Mutation_p.S606R	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	782	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CCACAGTCCAAGTGGCCTCAT	0.507													C	166999084	A	C	166999084	3	2	92	1	0	0	0	0	1	0	0	0	15942	72	3	5	2414	5	TLL1	4	166999084	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	11279685	166999084	24155192	74	58798											
TPPP	11076	broad.mit.edu	37	chr5	665397	665397	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgagcctcgacactgtgggCgacgagatggctttctgcaa	14	10	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:665397C>A	uc003jbg.3	-	3	1198	c.480G>T	c.(478-480)TCG>TCT	p.S160S	TPPP_uc003jbh.3_Silent_p.S160S	NM_007030	NP_008961	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	160					microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding				0		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		ACACTGTGGGCGACGAGATGG	0.642													A	665397	C	A	665397	2	1	92	1	0	0	0	0	0	0	0	1	16410	755	27	5		5	TPPP	5	665397	Silent	SNP	C	TCGA-BR-8485-01A-11D-2394-08		665397	180249863	75	58799											
CTNND2	1501	broad.mit.edu	37	chr5	11364952	11364952	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggactgcagggcccgcaActctgggcccaggtgcccat	15	14	1	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:11364952A>G	uc003jfa.1	-	8	1373	c.1228T>C	c.(1228-1230)TTG>CTG	p.L410L	CTNND2_uc010itt.2_Silent_p.L319L|CTNND2_uc011cmy.1_Silent_p.L73L|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	410	ARM 1.				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						AGGGCCCGCAACTCTGGGCCC	0.572													G	11364952	A	G	11364952	2	3	92	1	0	0	0	0	0	0	0	1	4020	40	2	3		3	CTNND2	5	11364952	Silent	SNP	A	TCGA-BR-8485-01A-11D-2394-08	10699555	11364952	169550308	76	58800											
DNAH5	1767	broad.mit.edu	37	chr5	13717530	13717530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaccccagggcaccgaacTtgcgcctctcctggacagtg	10	17	1	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:13717530T>C	uc003jfd.2	-	73	12641	c.12599A>G	c.(12598-12600)AAG>AGG	p.K4200R	DNAH5_uc003jfc.2_Missense_Mutation_p.K368R	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4200	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K4200T(1)		ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GGCACCGAACTTGCGCCTCTC	0.552									Kartagener_syndrome				C	13717530	T	C	13717530	3	2	92	1	0	0	0	0	1	0	0	0	4604	1609	56	3	1303	3	DNAH5	5	13717530	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	2352578	13717530	167197730	77	58801											
DNAH5	1767	broad.mit.edu	37	chr5	13751329	13751329	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtaatgtagagtctaAagccatccaacacatctact	8	9	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:13751329A>C	uc003jfd.2	-	65	11111	c.11069T>G	c.(11068-11070)TTT>TGT	p.F3690C	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3690	AAA 5 (By similarity).				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)					GTAGAGTCTAAAGCCATCCAA	0.368									Kartagener_syndrome				C	13751329	A	C	13751329	3	2	92	1	0	0	0	0	1	0	0	0	4604	14	1	5	2865	5	DNAH5	5	13751329	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	33799	13751329	167163931	78	58802											
DNAH5	1767	broad.mit.edu	37	chr5	13824402	13824402	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgctcccaaggtccgaAgaactgacagaatgttacgc	10	11	0	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:13824402A>C	uc003jfd.2	-	39	6527	c.6485T>G	c.(6484-6486)CTT>CGT	p.L2162R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2162	AAA 1 (By similarity).				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)					CAAGGTCCGAAGAACTGACAG	0.418									Kartagener_syndrome				C	13824402	A	C	13824402	3	2	92	1	0	0	0	0	1	0	0	0	4604	72	3	5	7553	5	DNAH5	5	13824402	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	73073	13824402	167090858	79	58803											
DNAH5	1767	broad.mit.edu	37	chr5	13864531	13864531	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcctctttatatttcagaAgaggtgcctccatgatattt	6	8	2	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:13864531A>C	uc003jfd.2	-	28	4613	c.4571T>G	c.(4570-4572)CTT>CGT	p.L1524R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1524	Stem (By similarity).				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)					ATATTTCAGAAGAGGTGCCTC	0.398									Kartagener_syndrome				C	13864531	A	C	13864531	3	2	92	1	0	0	0	0	1	0	0	0	4604	72	3	5	9511	5	DNAH5	5	13864531	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	40129	13864531	167050729	80	58804											
ADAMTS12	81792	broad.mit.edu	37	chr5	33616122	33616122	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtttccagctccctcaatTtccatcactcttatgtccct	3	15	3	0	rs145853154		TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:33616122T>G	uc003jia.1	-	15	2362	c.2199A>C	c.(2197-2199)GAA>GAC	p.E733D	ADAMTS12_uc010iuq.1_Missense_Mutation_p.E648D	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	733	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						CTCCCTCAATTTCCATCACTC	0.443										HNSCC(64;0.19)			G	33616122	T	G	33616122	3	3	92	1	0	0	0	0	1	0	0	0	257	1838	64	5	2625	5	ADAMTS12	5	33616122	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	19751591	33616122	147299138	81	58805											
RXFP3	51289	broad.mit.edu	37	chr5	33937101	33937101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgcggattctcatcagcGtggtgtactgggtggtgtgc	18	7	2	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:33937101G>A	uc003jic.1	+	1	613	c.256G>A	c.(256-258)GTG>ATG	p.V86M		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	86	Helical; Name=1; (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						TCTCATCAGCGTGGTGTACTG	0.677													A	33937101	G	A	33937101	3	1	92	1	0	0	0	0	1	0	0	0	13761	1145	40	1	258	1	RXFP3	5	33937101	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	320979	33937101	146978159	82	58806											
PLCXD3	345557	broad.mit.edu	37	chr5	41382380	41382380	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaaggccttcattgacTttggcactgaacaaaccatg	7	12	2	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:41382380T>G	uc003jmm.1	-	2	462	c.360A>C	c.(358-360)AAA>AAC	p.K120N		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	120	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						CTTCATTGACTTTGGCACTGA	0.433													G	41382380	T	G	41382380	3	3	92	1	0	0	0	0	1	0	0	0	12043	1606	56	5	613	5	PLCXD3	5	41382380	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	7445279	41382380	139532880	83	58807											
PLCXD3	345557	broad.mit.edu	37	chr5	41382435	41382435	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgtcggggtctctgggcTtggtggaaattcgaagatca	14	7	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:41382435T>C	uc003jmm.1	-	2	407	c.305A>G	c.(304-306)AAG>AGG	p.K102R		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	102	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						GTCTCTGGGCTTGGTGGAAAT	0.448													C	41382435	T	C	41382435	3	2	92	1	0	0	0	0	1	0	0	0	12043	1609	56	3	668	3	PLCXD3	5	41382435	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	55	41382435	139532825	84	58808											
HCN1	348980	broad.mit.edu	37	chr5	45645680	45645680	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgactagatttccaaccatCattataagcattattaaatc	3	8	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:45645680C>T	uc003jok.2	-	2	481	c.456G>A	c.(454-456)ATG>ATA	p.M152I		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	152	Helical; Name=Segment S1; (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						TTCCAACCATCATTATAAGCA	0.318													T	45645680	C	T	45645680	3	4	92	1	0	0	0	0	1	0	0	0	6996	826	29	4	2244	4	HCN1	5	45645680	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	4263245	45645680	135269580	85	58809											
EMB	133418	broad.mit.edu	37	chr5	49701604	49701604	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtccaatttaaaggaaaAcaattttgacatttacatgt	6	6	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:49701604A>C	uc003jom.2	-	5	804	c.555T>G	c.(553-555)TGT>TGG	p.C185W	EMB_uc010ivq.2_5'Flank|EMB_uc003jol.2_Missense_Mutation_p.C116W|EMB_uc011cpy.1_Missense_Mutation_p.C135W|EMB_uc010ivr.2_Missense_Mutation_p.C131W	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	embigin precursor	185	Extracellular (Potential).|Ig-like V-type 2.					integral to membrane					0	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TTAAAGGAAAACAATTTTGAC	0.338													C	49701604	A	C	49701604	3	2	92	1	0	0	0	0	1	0	0	0	5085	41	2	5	448	5	EMB	5	49701604	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	4055924	49701604	131213656	86	58810											
ANKRD55	79722	broad.mit.edu	37	chr5	55412549	55412549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttgctgtccattcccaaCtccagcagtgactggacaca	9	13	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:55412549C>T	uc003jqu.2	-	9	1010	c.858G>A	c.(856-858)GAG>GAA	p.E286E	ANKRD55_uc003jqt.2_5'UTR	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	285	ANK 8.									skin(1)	1		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CCATTCCCAACTCCAGCAGTG	0.582													T	55412549	C	T	55412549	2	4	92	1	0	0	0	0	0	0	0	1	681	564	20	4		4	ANKRD55	5	55412549	Silent	SNP	C	TCGA-BR-8485-01A-11D-2394-08	5710945	55412549	125502711	87	58811											
GPR98	84059	broad.mit.edu	37	chr5	89949308	89949308	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gatagattttttactggttgGaattttccccaccaccgtgc	8	10	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:89949308G>C	uc003kju.2	+	20	4013	c.3917G>C	c.(3916-3918)GGA>GCA	p.G1306A	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1306	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTACTGGTTGGAATTTTCCCC	0.498													C	89949308	G	C	89949308	3	2	92	1	0	0	0	0	1	0	0	0	6721	1174	41	5	3995	5	GPR98	5	89949308	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	34536759	89949308	90965952	88	58812											
GPR98	84059	broad.mit.edu	37	chr5	89990466	89990466	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgttgttggtggaacagcTactgaaggtttagattttat	12	4	0	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:89990466T>C	uc003kju.2	+	33	7989	c.7893T>C	c.(7891-7893)GCT>GCC	p.A2631A	GPR98_uc003kjt.2_Silent_p.A337A|GPR98_uc003kjv.2_Silent_p.A231A	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2631	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTGGAACAGCTACTGAAGGTT	0.483													C	89990466	T	C	89990466	2	2	92	1	0	0	0	0	0	0	0	1	6721	1509	53	3		3	GPR98	5	89990466	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	41158	89990466	90924794	89	58813											
GPR98	84059	broad.mit.edu	37	chr5	90079735	90079735	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgccacctagtgagcagaaTcataatagctaagagtgact	10	9	1	4			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:90079735T>C	uc003kju.2	+	67	13610	c.13514T>C	c.(13513-13515)ATC>ACC	p.I4505T	GPR98_uc003kjt.2_Missense_Mutation_p.I2211T|GPR98_uc003kjw.2_Missense_Mutation_p.I166T	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	4505	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTGAGCAGAATCATAATAGCT	0.433													C	90079735	T	C	90079735	3	2	92	1	0	0	0	0	1	0	0	0	6721	1435	50	3	13780	3	GPR98	5	90079735	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	89269	90079735	90835525	90	58814											
SEMA6A	57556	broad.mit.edu	37	chr5	115783129	115783129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgttggggttgactctGgggtggggagggccgtcagg	22	7	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:115783129G>A	uc010jck.2	-	19	2982	c.2273C>T	c.(2272-2274)CCA>CTA	p.P758L	SEMA6A_uc003krx.3_Missense_Mutation_p.P775L|SEMA6A_uc011cwe.1_Missense_Mutation_p.P137L|SEMA6A_uc003krv.3_Missense_Mutation_p.P185L|SEMA6A_uc003krw.3_Missense_Mutation_p.P235L|SEMA6A_uc010jcj.2_Missense_Mutation_p.P302L	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	758	Cytoplasmic (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGTTGACTCTGGGGTGGGGAG	0.622													A	115783129	G	A	115783129	3	1	92	1	0	0	0	0	1	0	0	0	14039	1348	47	4	823	4	SEMA6A	5	115783129	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	25703394	115783129	65132131	91	58815											
FAM170A	340069	broad.mit.edu	37	chr5	118969843	118969843	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatatactacatgcaggtaCaaatgaacaaaggtgtggct	9	6	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:118969843C>A	uc003ksm.2	+	3	610	c.400C>A	c.(400-402)CAA>AAA	p.Q134K	FAM170A_uc003ksl.2_Missense_Mutation_p.Q134K|FAM170A_uc003ksn.2_Missense_Mutation_p.Q134K|FAM170A_uc003kso.2_Missense_Mutation_p.Q87K	NM_182761	NP_877438	A1A519	F170A_HUMAN	family with sequence similarity 170, member A	134						intracellular	zinc ion binding			skin(1)	1						CATGCAGGTACAAATGAACAA	0.443													A	118969843	C	A	118969843	3	1	92	1	0	0	0	0	1	0	0	0	5489	479	17	5	410	5	FAM170A	5	118969843	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	3186714	118969843	61945417	92	58816											
SNCAIP	9627	broad.mit.edu	37	chr5	121786608	121786608	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caacaactctgaggaccccaAgactaccccagtgaggaagg	10	13	1	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:121786608A>C	uc003ksw.1	+	10	2272	c.2066A>C	c.(2065-2067)AAG>ACG	p.K689T	SNCAIP_uc011cwl.1_Missense_Mutation_p.K247T|SNCAIP_uc003ksx.1_Missense_Mutation_p.K736T|SNCAIP_uc003ksy.1_Missense_Mutation_p.K323T|SNCAIP_uc003ksz.1_Missense_Mutation_p.K323T|SNCAIP_uc010jcu.2_Missense_Mutation_p.K285T|SNCAIP_uc011cwm.1_Missense_Mutation_p.K323T|SNCAIP_uc003kta.1_Missense_Mutation_p.K321T|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.K383T|SNCAIP_uc010jcx.1_Missense_Mutation_p.K629T|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.K205T	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	689					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GAGGACCCCAAGACTACCCCA	0.542													C	121786608	A	C	121786608	3	2	92	1	0	0	0	0	1	0	0	0	14841	72	3	5	2100	5	SNCAIP	5	121786608	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	2816765	121786608	59128652	93	58817											
HARS	3035	broad.mit.edu	37	chr5	140054668	140054668	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctagcagcttcttctgtgcAgatgccacaagcacctgtgt	9	12	3	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:140054668A>G	uc003lgv.2	-	11	1327	c.1245T>C	c.(1243-1245)TCT>TCC	p.S415S	DND1_uc003lgt.2_5'Flank|HARS_uc003lgu.2_Silent_p.S346S|HARS_uc011czm.1_Silent_p.S375S|HARS_uc003lgw.2_Silent_p.S395S|HARS_uc011czn.1_Silent_p.S355S|HARS_uc010jfu.2_Intron|HARS_uc011czo.1_Silent_p.S341S|HARS_uc011czp.1_Silent_p.S301S	NM_002109	NP_002100	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	415					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TCTTCTGTGCAGATGCCACAA	0.537													G	140054668	A	G	140054668	2	3	92	1	0	0	0	0	0	0	0	1	6959	175	7	3		3	HARS	5	140054668	Silent	SNP	A	TCGA-BR-8485-01A-11D-2394-08	18268060	140054668	40860592	94	58818											
PCDHA7	56141	broad.mit.edu	37	chr5	140216285	140216285	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agacagacctcatggccttcAgtcccagccttcctcagggt	9	15	3	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:140216285A>C	uc003lhq.2	+	1	2317	c.2317A>C	c.(2317-2319)AGT>CGT	p.S773R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.S773R	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	773	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATGGCCTTCAGTCCCAGCCT	0.522													C	140216285	A	C	140216285	3	2	92	1	0	0	0	0	1	0	0	0	11529	188	7	5	2319	5	PCDHA7	5	140216285	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	161617	140216285	40698975	95	58819											
PCDHB3	56132	broad.mit.edu	37	chr5	140481107	140481107	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagaaattcgcaaaactTttcagctaaatccaattact	4	9	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:140481107T>G	uc003lio.2	+	1	874	c.874T>G	c.(874-876)TTT>GTT	p.F292V	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	292	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGCAAAACTTTTCAGCTAAA	0.383													G	140481107	T	G	140481107	3	3	92	1	0	0	0	0	1	0	0	0	11543	1841	64	5	876	5	PCDHB3	5	140481107	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	264822	140481107	40434153	96	58820											
PCDHB7	56129	broad.mit.edu	37	chr5	140554081	140554081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggtgctggacgccaaCgacaactcgcccttcgtgct	12	14	0	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:140554081C>T	uc003lit.2	+	1	1839	c.1665C>T	c.(1663-1665)AAC>AAT	p.N555N		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	555	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACGCCAACGACAACTCGC	0.726													T	140554081	C	T	140554081	2	4	92	1	0	0	0	0	0	0	0	1	11547	535	19	1		1	PCDHB7	5	140554081	Silent	SNP	C	TCGA-BR-8485-01A-11D-2394-08	72974	140554081	40361179	97	58821											
SLC25A2	83884	broad.mit.edu	37	chr5	140683221	140683221	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcggcgacgtaggccataAgtgccgggccggtgcccttg	15	12	0	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:140683221A>C	uc003ljf.2	-	1	392	c.212T>G	c.(211-213)CTT>CGT	p.L71R		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 member 2	71	Helical; Name=2; (Potential).|Solcar 1.				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			ovary(1)	1		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GTAGGCCATAAGTGCCGGGCC	0.582													C	140683221	A	C	140683221	3	2	92	1	0	0	0	0	1	0	0	0	14482	72	3	5	697	5	SLC25A2	5	140683221	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	129140	140683221	40232039	98	58822											
CNOT8	9337	broad.mit.edu	37	chr5	154251334	154251334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagttgcttacagattctcGtttgccagaagaggaacatg	10	7	1	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:154251334G>A	uc003lvu.2	+	6	997	c.518G>A	c.(517-519)CGT>CAT	p.R173H	CNOT8_uc011ddf.1_Missense_Mutation_p.R67H|CNOT8_uc011ddg.1_Missense_Mutation_p.R67H|CNOT8_uc011ddh.1_Missense_Mutation_p.R9H|CNOT8_uc003lvv.2_Missense_Mutation_p.R173H|CNOT8_uc010jig.2_Missense_Mutation_p.R67H|CNOT8_uc010jif.2_Missense_Mutation_p.R67H|CNOT8_uc003lvw.2_Missense_Mutation_p.R173H|CNOT8_uc011ddi.1_Missense_Mutation_p.R67H|CNOT8_uc011ddj.1_Missense_Mutation_p.R119H	NM_004779	NP_004770	Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	173					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACAGATTCTCGTTTGCCAGAA	0.378								Direct_reversal_of_damage					A	154251334	G	A	154251334	3	1	92	1	0	0	0	0	1	0	0	0	3625	1145	40	1	532	1	CNOT8	5	154251334	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	13568113	154251334	26663926	99	58823											
CYFIP2	26999	broad.mit.edu	37	chr5	156786056	156786056	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catctacagctcctacaggaAtttcgtggggccacctcatt	8	13	2	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:156786056A>C	uc003lwq.2	+	26	2855	c.2717A>C	c.(2716-2718)AAT>ACT	p.N906T	CYFIP2_uc011ddn.1_Missense_Mutation_p.N880T|CYFIP2_uc011ddo.1_Missense_Mutation_p.N710T|CYFIP2_uc003lwr.2_Missense_Mutation_p.N906T|CYFIP2_uc003lws.2_Missense_Mutation_p.N906T|CYFIP2_uc003lwt.2_Missense_Mutation_p.N809T|CYFIP2_uc011ddp.1_Missense_Mutation_p.N640T	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	931					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCTACAGGAATTTCGTGGGG	0.493													C	156786056	A	C	156786056	3	2	92	1	0	0	0	0	1	0	0	0	4138	101	4	5	2807	5	CYFIP2	5	156786056	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	2534722	156786056	24129204	100	58824											
C1QTNF2	114898	broad.mit.edu	37	chr5	159776372	159776372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgttggcatcaaaggtccGgatgcggtactggccgttgt	16	8	1	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:159776372G>A	uc003lyd.2	-	3	800	c.796C>T	c.(796-798)CGG>TGG	p.R266W		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	221	C1q.					collagen				skin(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAAAGGTCCGGATGCGGTAC	0.597													A	159776372	G	A	159776372	3	1	92	1	0	0	0	0	1	0	0	0	1963	1115	39	1	200	1	C1QTNF2	5	159776372	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	2990316	159776372	21138888	101	58825											
FAM8A1	51439	broad.mit.edu	37	chr6	17600920	17600920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaggagcaggcgggctgcGaggcgcccgaagccgcggcg	20	13	0	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:17600920G>A	uc003ncc.2	+	1	403	c.280G>A	c.(280-282)GAG>AAG	p.E94K		NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	94						integral to membrane					0	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GGCGGGCTGCGAGGCGCCCGA	0.731													A	17600920	G	A	17600920	3	1	92	1	0	0	0	0	1	0	0	0	5649	1059	37	1	282	1	FAM8A1	6	17600920	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08		17600920	153514147	102	58826											
NUP153	9972	broad.mit.edu	37	chr6	17629488	17629488	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaagaaagtccaaacttaAaattatcattcttactatct	3	8	3	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:17629488A>C	uc003ncd.1	-	18	3142	c.2942T>G	c.(2941-2943)TTT>TGT	p.F981C	NUP153_uc011dje.1_Missense_Mutation_p.F1012C|NUP153_uc010jpl.1_Missense_Mutation_p.F939C	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	981					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TCCAAACTTAAAATTATCATT	0.323													C	17629488	A	C	17629488	3	2	92	1	0	0	0	0	1	0	0	0	10755	14	1	5	1505	5	NUP153	6	17629488	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	28568	17629488	153485579	103	58827											
RXRB	6257	broad.mit.edu	37	chr6	33166234	33166234	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccccagggagtgacactgttGagttaatctgggatggggga	16	7	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:33166234G>C	uc003odb.2	-	3	670	c.491C>G	c.(490-492)TCA>TGA	p.S164*	RXRB_uc003odc.2_Nonsense_Mutation_p.S164*|RXRB_uc003odd.2_Nonsense_Mutation_p.S68*|RXRB_uc011dqr.1_Intron|RXRB_uc011dqs.1_Intron|RXRB_uc003ode.1_Nonsense_Mutation_p.S28*|RXRB_uc011dqt.1_Nonsense_Mutation_p.S164*|RXRB_uc011dqu.1_Nonsense_Mutation_p.S68*|SLC39A7_uc003odf.2_5'Flank|SLC39A7_uc003odg.2_5'Flank|SLC39A7_uc011dqv.1_5'Flank	NM_021976	NP_068811	P28702	RXRB_HUMAN	retinoid X receptor, beta	164	Modulating (By similarity).|Pro-rich.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			ovary(3)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGACACTGTTGAGTTAATCTG	0.547													C	33166234	G	C	33166234	4	2	92	1	0	0	0	0	0	1	0	0	13764	1294	45	5	1142	5	RXRB	6	33166234	Nonsense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	15536746	33166234	137948833	104	58828											
PKHD1	5314	broad.mit.edu	37	chr6	51656136	51656136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcacatacagccctttgaAgaatggaagatctgtatcca	7	10	2	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:51656136A>G	uc003pah.1	-	53	8614	c.8338T>C	c.(8338-8340)TTC>CTC	p.F2780L	PKHD1_uc010jzn.1_Missense_Mutation_p.F763L|PKHD1_uc003pai.2_Missense_Mutation_p.F2780L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2780	G8 2.|Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					AGCCCTTTGAAGAATGGAAGA	0.448													G	51656136	A	G	51656136	3	3	92	1	0	0	0	0	1	0	0	0	11971	72	3	3	3985	3	PKHD1	6	51656136	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	18489902	51656136	119458931	105	58829											
TINAG	27283	broad.mit.edu	37	chr6	54212312	54212312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtggtacctgagaaaacGtgggtaaatagctgctcaac	12	7	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:54212312G>A	uc003pcj.2	+	6	1042	c.896G>A	c.(895-897)CGT>CAT	p.R299H	TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	299					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.R299C(1)		ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CTGAGAAAACGTGGGTAAATA	0.398													A	54212312	G	A	54212312	3	1	92	1	0	0	0	0	1	0	0	0	15918	1145	40	1	918	1	TINAG	6	54212312	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	2556176	54212312	116902755	106	58830											
COL21A1	81578	broad.mit.edu	37	chr6	55990378	55990378	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacttccctttttgccataaAatccaggtgatcctttgtct	5	11	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:55990378A>G	uc003pcs.2	-	14	1869	c.1637T>C	c.(1636-1638)TTT>TCT	p.F546S	COL21A1_uc010jzz.2_5'Flank|COL21A1_uc011dxg.1_5'Flank|COL21A1_uc011dxh.1_5'Flank|COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.F546S|COL21A1_uc003pcu.1_Missense_Mutation_p.F543S	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	546	Collagen-like 2.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTTGCCATAAAATCCAGGTGA	0.303													G	55990378	A	G	55990378	3	3	92	1	0	0	0	0	1	0	0	0	3680	14	1	3	1304	3	COL21A1	6	55990378	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	1778066	55990378	115124689	107	58831											
EYS	346007	broad.mit.edu	37	chr6	66094372	66094372	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attgctttctcacagtttttTtcagtaaatcctgatataca	4	8	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:66094372T>A	uc011dxu.1	-	8	1744	c.1206A>T	c.(1204-1206)GAA>GAT	p.E402D	EYS_uc003peq.2_Missense_Mutation_p.E402D|EYS_uc003per.1_Missense_Mutation_p.E402D	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	402	EGF-like 5.				response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						CACAGTTTTTTTCAGTAAATC	0.294													A	66094372	T	A	66094372	3	1	92	1	0	0	0	0	1	0	0	0	5332	1838	64	5	8334	5	EYS	6	66094372	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	10103994	66094372	105020695	108	58832											
COL19A1	1310	broad.mit.edu	37	chr6	70639447	70639447	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgatcgtcagtggcacaaacTtggcattagtatacaatccc	8	10	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:70639447T>A	uc003pfc.1	+	6	638	c.521T>A	c.(520-522)CTT>CAT	p.L174H	COL19A1_uc010kam.1_Missense_Mutation_p.L70H	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	174	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						TGGCACAAACTTGGCATTAGT	0.403													A	70639447	T	A	70639447	3	1	92	1	0	0	0	0	1	0	0	0	3676	1609	56	5	539	5	COL19A1	6	70639447	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	4545075	70639447	100475620	109	58833											
COL12A1	1303	broad.mit.edu	37	chr6	75811728	75811728	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactcactgttcggcctggaAgtcctggctctccagcatca	9	14	3	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:75811728A>G	uc003phs.2	-	57	8622	c.8456T>C	c.(8455-8457)CTT>CCT	p.L2819P	COL12A1_uc003pht.2_Missense_Mutation_p.L1655P	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2819	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TCGGCCTGGAAGTCCTGGCTC	0.463													G	75811728	A	G	75811728	3	3	92	1	0	0	0	0	1	0	0	0	3669	72	3	3	775	3	COL12A1	6	75811728	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	5172281	75811728	95303339	110	58834											
TBX18	9096	broad.mit.edu	37	chr6	85466473	85466473	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcttgtcgaagctgataacTtgtctcatccaagtctcccc	7	13	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:85466473T>G	uc003pkl.1	-	4	714	c.714A>C	c.(712-714)CAA>CAC	p.Q238H	TBX18_uc010kbq.1_Missense_Mutation_p.Q80H	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	238	T-box.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		AGCTGATAACTTGTCTCATCC	0.527													G	85466473	T	G	85466473	3	3	92	1	0	0	0	0	1	0	0	0	15650	1606	56	5	1129	5	TBX18	6	85466473	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	9654745	85466473	85648594	111	58835											
SLC35F1	222553	broad.mit.edu	37	chr6	118635388	118635388	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctgggccaggagaccgaAgaggagcctcatgttcgtgt	15	10	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:118635388A>G	uc003pxx.3	+	8	1401	c.1200A>G	c.(1198-1200)GAA>GAG	p.E400E	SLC35F1_uc003pxy.1_Silent_p.E205E	NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	400					transport	integral to membrane				breast(1)	1				GBM - Glioblastoma multiforme(226;0.217)		AGGAGACCGAAGAGGAGCCTC	0.552													G	118635388	A	G	118635388	2	3	92	1	0	0	0	0	0	0	0	1	14588	69	3	3		3	SLC35F1	6	118635388	Silent	SNP	A	TCGA-BR-8485-01A-11D-2394-08	33168915	118635388	52479679	112	58836											
KIAA1244	57221	broad.mit.edu	37	chr6	138584055	138584055	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagatcaatgaggctgacTtccgctggcagcggcgagtg	16	9	1	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:138584055T>G	uc003qhu.2	+	12	1435	c.1435T>G	c.(1435-1437)TTC>GTC	p.F479V		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	479					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGAGGCTGACTTCCGCTGGCA	0.587													G	138584055	T	G	138584055	3	3	92	1	0	0	0	0	1	0	0	0	8217	1609	56	5	1481	5	KIAA1244	6	138584055	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	19948667	138584055	32531012	113	58837											
CCDC28A	25901	broad.mit.edu	37	chr6	139094902	139094902	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtacctcttacgtcacTtccgtaaacaaacggagctg	9	12	2	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:139094902T>G	uc003qie.2	+	1	246	c.91T>G	c.(91-93)TTC>GTC	p.F31V	uc003qid.1_5'Flank	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	31											0				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		CTTACGTCACTTCCGTAAACA	0.632													G	139094902	T	G	139094902	3	3	92	1	0	0	0	0	1	0	0	0	2802	1609	56	5	93	5	CCDC28A	6	139094902	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	510847	139094902	32020165	114	58838											
SYNE1	23345	broad.mit.edu	37	chr6	152557432	152557432	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtattcattaaggctagattTtaaatgctaaaatattgaaa	6	3	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:152557432T>G	uc010kiw.2	-	110	20808	c.20206A>C	c.(20206-20208)AAA>CAA	p.K6736Q	SYNE1_uc010kiv.2_Missense_Mutation_p.K1260Q|SYNE1_uc003qos.3_Missense_Mutation_p.K1260Q|SYNE1_uc003qot.3_Missense_Mutation_p.K6665Q|SYNE1_uc003qou.3_Missense_Mutation_p.K6736Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6736	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)		AGGCTAGATTTTAAATGCTAA	0.313										HNSCC(10;0.0054)			G	152557432	T	G	152557432	3	3	92	1	0	0	0	0	1	0	0	0	15442	1850	64	5	6408	5	SYNE1	6	152557432	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	13462530	152557432	18557635	115	58839											
SYNE1	23345	broad.mit.edu	37	chr6	152722378	152722378	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcattaataaacttctccacTtgtgtactttgagccgtgaa	6	9	2	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:152722378T>G	uc010kiw.2	-	47	7526	c.6924A>C	c.(6922-6924)CAA>CAC	p.Q2308H	SYNE1_uc003qot.3_Missense_Mutation_p.Q2315H|SYNE1_uc003qou.3_Missense_Mutation_p.Q2308H|SYNE1_uc010kjb.1_Missense_Mutation_p.Q2291H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2308	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)		ACTTCTCCACTTGTGTACTTT	0.378										HNSCC(10;0.0054)			G	152722378	T	G	152722378	3	3	92	1	0	0	0	0	1	0	0	0	15442	1606	56	5	19942	5	SYNE1	6	152722378	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	164946	152722378	18392689	116	58840											
MYCT1	80177	broad.mit.edu	37	chr6	153019200	153019200	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatggctaataacacaacaAgtttagggagtccatggcca	9	8	0	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:153019200A>G	uc003qpd.3	+	1	171	c.163A>G	c.(163-165)AGT>GGT	p.S55G	MYCT1_uc010kjc.1_Missense_Mutation_p.S55G|MYCT1_uc003qpc.3_Missense_Mutation_p.S55G	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	myc target 1	55						nucleus				ovary(1)	1		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TAACACAACAAGTTTAGGGAG	0.313													G	153019200	A	G	153019200	3	3	92	1	0	0	0	0	1	0	0	0	10022	72	3	3	165	3	MYCT1	6	153019200	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	296822	153019200	18095867	117	58841											
IGF2R	3482	broad.mit.edu	37	chr6	160445719	160445719	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggacacttctctattcatcaAtgtttgtagagacataggta	8	7	3	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:160445719A>T	uc003qta.2	+	5	777	c.629A>T	c.(628-630)AAT>ATT	p.N210I		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	210	2.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTATTCATCAATGTTTGTAGA	0.433													T	160445719	A	T	160445719	3	4	92	1	0	0	0	0	1	0	0	0	7576	101	4	5	647	5	IGF2R	6	160445719	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	7426519	160445719	10669348	118	58842											
PARK2	5071	broad.mit.edu	37	chr6	162683735	162683735	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccagttgcattcatttcTtgaccttttctccacggtct	5	14	4	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:162683735T>C	uc003qtx.3	-	3	368	c.234A>G	c.(232-234)CAA>CAG	p.Q78Q	PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_5'UTR|PARK2_uc003qty.3_Silent_p.Q78Q|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Silent_p.Q78Q	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	78					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CATTCATTTCTTGACCTTTTC	0.507													C	162683735	T	C	162683735	2	2	92	1	0	0	0	0	0	0	0	1	11449	1606	56	3		3	PARK2	6	162683735	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	2238016	162683735	8431332	119	58843											
PRR18	285800	broad.mit.edu	37	chr6	166721313	166721313	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccgccgaggtcgccgcataGgtggtcctcgctgggctgtg	16	14	0	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:166721313G>C	uc003quw.1	-	1	559	c.318C>G	c.(316-318)ACC>ACG	p.T106T		NM_175922	NP_787118	Q8N4B5	PRR18_HUMAN	proline rich region 18	106						endoplasmic reticulum					0		Breast(66;2.35e-05)|Ovarian(120;0.0606)|Prostate(117;0.0959)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-19)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;7.96e-05)		TCGCCGCATAGGTGGTCCTCG	0.582													C	166721313	G	C	166721313	2	2	92	1	0	0	0	0	0	0	0	1	12590	987	35	5		5	PRR18	6	166721313	Silent	SNP	G	TCGA-BR-8485-01A-11D-2394-08	4037578	166721313	4393754	120	58844											
COL28A1	340267	broad.mit.edu	37	chr7	7412809	7412809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtcagtttctctttatcacGagaatctgtctgtccatcag	7	10	6	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:7412809G>A	uc003src.1	-	32	2845	c.2728C>T	c.(2728-2730)CGT>TGT	p.R910C	COL28A1_uc011jxe.1_Missense_Mutation_p.R593C	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	910	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCTTTATCACGAGAATCTGTC	0.458													A	7412809	G	A	7412809	3	1	92	1	0	0	0	0	1	0	0	0	3686	1058	37	1	665	1	COL28A1	7	7412809	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08		7412809	151725854	121	58845											
GLCCI1	113263	broad.mit.edu	37	chr7	8126036	8126036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcccgggtttcctttacGtctctttctgatgacaccag	7	13	3	2	rs146979444		TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:8126036G>A	uc003srk.2	+	8	2071	c.1512G>A	c.(1510-1512)ACG>ACA	p.T504T		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	504											0		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TTTCCTTTACGTCTCTTTCTG	0.577													A	8126036	G	A	8126036	2	1	92	1	0	0	0	0	0	0	0	1	6431	1132	40	1		1	GLCCI1	7	8126036	Silent	SNP	G	TCGA-BR-8485-01A-11D-2394-08	713227	8126036	151012627	122	58846											
FERD3L	222894	broad.mit.edu	37	chr7	19184942	19184942	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggacaggtctgcgacgaagTccagcaccgtagtgtccacg	14	12	1	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:19184942T>C	uc003suo.1	-	1	103	c.44A>G	c.(43-45)GAC>GGC	p.D15G	uc003sun.1_RNA	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	15					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(1)	1						TGCGACGAAGTCCAGCACCGT	0.677													C	19184942	T	C	19184942	3	2	92	1	0	0	0	0	1	0	0	0	5816	1667	58	3	460	3	FERD3L	7	19184942	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	11058906	19184942	139953721	123	58847											
DNAH11	8701	broad.mit.edu	37	chr7	21629008	21629008	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatggtcttctctgtgtcaAttttgacccaaaggtaggga	10	7	3	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:21629008A>C	uc003svc.2	+	12	2187	c.2156A>C	c.(2155-2157)AAT>ACT	p.N719T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	719	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CTCTGTGTCAATTTTGACCCA	0.303									Kartagener_syndrome				C	21629008	A	C	21629008	3	2	92	1	0	0	0	0	1	0	0	0	4599	101	4	5	2202	5	DNAH11	7	21629008	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	2444066	21629008	137509655	124	58848											
BBS9	27241	broad.mit.edu	37	chr7	33427710	33427710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcaaagataaaactcctgCccctcttcaacacctggaca	4	14	3	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:33427710C>T	uc003tdn.1	+	19	2582	c.2069C>T	c.(2068-2070)GCC>GTC	p.A690V	BBS9_uc003tdo.1_Missense_Mutation_p.A655V|BBS9_uc003tdp.1_Missense_Mutation_p.A685V|BBS9_uc003tdq.1_Missense_Mutation_p.A650V|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.A214V|BBS9_uc003tds.1_Missense_Mutation_p.A113V|BBS9_uc003tdt.2_RNA	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	690					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			AAAACTCCTGCCCCTCTTCAA	0.388									Bardet-Biedl_syndrome				T	33427710	C	T	33427710	3	4	92	1	0	0	0	0	1	0	0	0	1342	739	26	2	2139	2	BBS9	7	33427710	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	11798702	33427710	125710953	125	58849											
AMPH	273	broad.mit.edu	37	chr7	38433635	38433635	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgcttcgagctcctctgcTtcaggttgggcactctctgc	11	13	3	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:38433635T>C	uc003tgu.2	-	18	1647	c.1578A>G	c.(1576-1578)GAA>GAG	p.E526E	AMPH_uc003tgv.2_Silent_p.E484E|AMPH_uc003tgt.2_Silent_p.E411E|AMPH_uc003tgw.1_Silent_p.E549E|AMPH_uc010kxl.1_RNA	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	526					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						GCTCCTCTGCTTCAGGTTGGG	0.582													C	38433635	T	C	38433635	2	2	92	1	0	0	0	0	0	0	0	1	588	1606	56	3		3	AMPH	7	38433635	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	5005925	38433635	120705028	126	58850											
AMPH	273	broad.mit.edu	37	chr7	38462019	38462019	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacaaacccaaatcaacttAccaagttgcagatcatactc	4	13	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:38462019A>G	uc003tgu.2	-	16	1341	c.1272_splice	c.e16+1	p.L424_splice	AMPH_uc003tgv.2_Splice_Site_p.L424_splice|AMPH_uc003tgt.2_Splice_Site_p.L351_splice|AMPH_uc003tgw.1_Splice_Site_p.L489_splice|AMPH_uc010kxl.1_Splice_Site	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1						endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						AAATCAACTTACCAAGTTGCA	0.358													G	38462019	A	G	38462019	5	3	92	1	0	0	0	0	0	0	1	0	588	405	14	3	837	3	AMPH	7	38462019	Splice_Site	SNP	A	TCGA-BR-8485-01A-11D-2394-08	28384	38462019	120676644	127	58851											
GLI3	2737	broad.mit.edu	37	chr7	42005876	42005876	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgtggcagccgcgtacTtggccttgaggcggtactgc	14	13	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:42005876T>G	uc011kbh.1	-	15	2886	c.2795A>C	c.(2794-2796)AAG>ACG	p.K932T	GLI3_uc011kbg.1_Missense_Mutation_p.K873T	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	932					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						AGCCGCGTACTTGGCCTTGAG	0.721									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				G	42005876	T	G	42005876	3	3	92	1	0	0	0	0	1	0	0	0	6439	1609	56	5	1951	5	GLI3	7	42005876	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	3543857	42005876	117132787	128	58852											
ZMIZ2	83637	broad.mit.edu	37	chr7	44801438	44801438	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aagacctcgcacaagccactCtacctgaagcatgtgtgcca	8	14	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:44801438C>G	uc003tlr.2	+	11	1653	c.1530C>G	c.(1528-1530)CTC>CTG	p.L510L	ZMIZ2_uc003tlq.2_Silent_p.L452L|ZMIZ2_uc003tls.2_Silent_p.L484L|ZMIZ2_uc003tlt.2_Silent_p.L133L|ZMIZ2_uc010kyj.2_Silent_p.L32L	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	510					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						ACAAGCCACTCTACCTGAAGC	0.587													G	44801438	C	G	44801438	2	3	92	1	0	0	0	0	0	0	0	1	17694	900	32	5		5	ZMIZ2	7	44801438	Silent	SNP	C	TCGA-BR-8485-01A-11D-2394-08	2795562	44801438	114337225	129	58853											
ABCA13	154664	broad.mit.edu	37	chr7	48312083	48312083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaccacaaaaacaagaAgttgataaaattttgactca	5	7	2	4			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:48312083A>C	uc003toq.2	+	17	2845	c.2820A>C	c.(2818-2820)GAA>GAC	p.E940D	ABCA13_uc010kyr.2_Missense_Mutation_p.E443D	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	940					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AAAAACAAGAAGTTGATAAAA	0.368													C	48312083	A	C	48312083	3	2	92	1	0	0	0	0	1	0	0	0	31	69	3	5	2715	5	ABCA13	7	48312083	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	3510645	48312083	110826580	130	58854											
ABCA13	154664	broad.mit.edu	37	chr7	48313132	48313132	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttgaagttttcattgAgtttagcagtacctcagaat	8	7	3	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:48313132A>C	uc003toq.2	+	17	3894	c.3869A>C	c.(3868-3870)GAG>GCG	p.E1290A	ABCA13_uc010kyr.2_Missense_Mutation_p.E793A	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1290					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GTTTTCATTGAGTTTAGCAGT	0.323													C	48313132	A	C	48313132	3	2	92	1	0	0	0	0	1	0	0	0	31	304	11	5	3764	5	ABCA13	7	48313132	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	1049	48313132	110825531	131	58855											
MAGI2	9863	broad.mit.edu	37	chr7	77885431	77885431	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagtatttgtttcacccgctGtcctgtaggactgtcggcaa	10	10	1	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:77885431G>C	uc003ugx.2	-	10	2130	c.1876C>G	c.(1876-1878)CAG>GAG	p.Q626E	MAGI2_uc003ugy.2_Missense_Mutation_p.Q626E|MAGI2_uc010ldx.1_Missense_Mutation_p.Q235E|MAGI2_uc010ldy.1_Missense_Mutation_p.Q235E|MAGI2_uc011kgr.1_Missense_Mutation_p.Q458E|MAGI2_uc011kgs.1_Missense_Mutation_p.Q463E	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	626	PDZ 3.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTCACCCGCTGTCCTGTAGGA	0.512													C	77885431	G	C	77885431	3	2	92	1	0	0	0	0	1	0	0	0	9191	1386	48	5	2543	5	MAGI2	7	77885431	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	29572299	77885431	81253232	132	58856											
HGF	3082	broad.mit.edu	37	chr7	81346652	81346652	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtaattctcattcagcTtacttgcatctggttcccag	8	11	3	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:81346652T>G	uc003uhl.2	-	11	1466	c.1301A>C	c.(1300-1302)AAG>ACG	p.K434T	HGF_uc003uhm.2_Missense_Mutation_p.K429T	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	434	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						CTCATTCAGCTTACTTGCATC	0.428													G	81346652	T	G	81346652	3	3	92	1	0	0	0	0	1	0	0	0	7085	1609	56	5	917	5	HGF	7	81346652	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	3461221	81346652	77792011	133	58857											
SEMA3E	9723	broad.mit.edu	37	chr7	82996981	82996981	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgagggttggcatacTtccacttggagggtgacatt	12	8	0	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:82996981T>C	uc003uhy.1	-	17	2715	c.2249A>G	c.(2248-2250)AAG>AGG	p.K750R		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	750	Arg/Lys-rich (basic).				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				GTTGGCATACTTCCACTTGGA	0.483													C	82996981	T	C	82996981	3	2	92	1	0	0	0	0	1	0	0	0	14028	1609	56	3	82	3	SEMA3E	7	82996981	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	1650329	82996981	76141682	134	58858											
COL1A2	1278	broad.mit.edu	37	chr7	94052389	94052389	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagttggtccccctggcTtcgctggtgagaagggtccc	15	12	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:94052389T>G	uc003ung.1	+	40	2995	c.2524T>G	c.(2524-2526)TTC>GTC	p.F842V	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	842			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCCCCTGGCTTCGCTGGTGA	0.532										HNSCC(75;0.22)			G	94052389	T	G	94052389	3	3	92	1	0	0	0	0	1	0	0	0	3678	1609	56	5	2682	5	COL1A2	7	94052389	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	11055408	94052389	65086274	135	58859											
TRRAP	8295	broad.mit.edu	37	chr7	98547092	98547092	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgggatgtgctggctgccaAccccaacaggttcatcaccc	11	15	2	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:98547092A>T	uc003upp.2	+	35	5029	c.4820A>T	c.(4819-4821)AAC>ATC	p.N1607I	TRRAP_uc011kis.1_Missense_Mutation_p.N1589I|TRRAP_uc003upr.2_Missense_Mutation_p.N1306I	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1607					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.R1607H(1)		ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGGCTGCCAACCCCAACAGG	0.557													T	98547092	A	T	98547092	3	4	92	1	0	0	0	0	1	0	0	0	16598	43	2	5	4896	5	TRRAP	7	98547092	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	4494703	98547092	60591571	136	58860											
CNPY4	245812	broad.mit.edu	37	chr7	99722428	99722428	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gggaggaagagcaggaggagGaggaggaagaggaggaagag	24	1	0	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:99722428G>T	uc003uto.2	+	6	767	c.664G>T	c.(664-666)GAG>TAG	p.E222*	MBLAC1_uc003utp.2_5'Flank	NM_152755	NP_689968	Q8N129	CNPY4_HUMAN	canopy 4 homolog precursor	222	Glu-rich.					extracellular region					0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					gcaggaggaggaggaggaaga	0.353													T	99722428	G	T	99722428	4	4	92	1	0	0	0	0	0	1	0	0	3630	1175	41	5	686	5	CNPY4	7	99722428	Nonsense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	1175336	99722428	59416235	137	58861											
MLL5	55904	broad.mit.edu	37	chr7	104753074	104753074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccatcaaactgctgctgCcgtagtcccccctcctcctc	5	20	2	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:104753074C>T	uc003vcm.2	+	27	5405	c.4871C>T	c.(4870-4872)GCC>GTC	p.A1624V	MLL5_uc010ljc.2_Missense_Mutation_p.A1624V|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.A358V	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1624	Pro-rich.				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						ACTGCTGCTGCCGTAGTCCCC	0.562													T	104753074	C	T	104753074	3	4	92	1	0	0	0	0	1	0	0	0	9624	739	26	2	4969	2	MLL5	7	104753074	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	5030646	104753074	54385589	138	58862											
DOCK4	9732	broad.mit.edu	37	chr7	111387326	111387326	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caatacctaatccttacctcTtgatacctggaaacgccacc	4	15	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:111387326T>G	uc003vfx.2	-	42	4832	c.4563A>C	c.(4561-4563)CAA>CAC	p.Q1521H	DOCK4_uc011kml.1_Missense_Mutation_p.Q402H|DOCK4_uc011kmm.1_Missense_Mutation_p.Q428H|DOCK4_uc003vfw.2_Missense_Mutation_p.Q971H|DOCK4_uc003vfy.2_Missense_Mutation_p.Q1566H	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1521	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				TCCTTACCTCTTGATACCTGG	0.398													G	111387326	T	G	111387326	3	3	92	1	0	0	0	0	1	0	0	0	4689	1606	56	5	1381	5	DOCK4	7	111387326	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	6634252	111387326	47751337	139	58863											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518066	113518066	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcttactaatccttcattTtcatgccttgcttcttccat	4	12	3	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:113518066T>G	uc010ljy.1	-	4	3112	c.3081A>C	c.(3079-3081)GAA>GAC	p.E1027D		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	1027					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						ATCCTTCATTTTCATGCCTTG	0.398													G	113518066	T	G	113518066	3	3	92	1	0	0	0	0	1	0	0	0	12371	1838	64	5	291	5	PPP1R3A	7	113518066	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	2130740	113518066	45620597	140	58864											
PTPRZ1	5803	broad.mit.edu	37	chr7	121651971	121651971	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgattctgtgggtgtaacTtatcagggttccttatttag	10	6	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:121651971T>C	uc003vjy.2	+	12	3266	c.2871T>C	c.(2869-2871)ACT>ACC	p.T957T	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	957	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						TGGGTGTAACTTATCAGGGTT	0.443													C	121651971	T	C	121651971	2	2	92	1	0	0	0	0	0	0	0	1	12814	1596	56	3		3	PTPRZ1	7	121651971	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	8133905	121651971	37486692	141	58865											
SMO	6608	broad.mit.edu	37	chr7	128846344	128846344	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggatttgttttgtgggcTacaagaactaccgataccgt	12	7	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:128846344T>C	uc003vor.2	+	6	1460	c.1180T>C	c.(1180-1182)TAC>CAC	p.Y394H	SMO_uc003vos.2_Missense_Mutation_p.Y69H	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	394	Extracellular (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						TTTTGTGGGCTACAAGAACTA	0.597			Mis		skin basal cell 								C	128846344	T	C	128846344	3	2	92	1	0	0	0	0	1	0	0	0	14800	1522	53	3	1202	3	SMO	7	128846344	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	7194373	128846344	30292319	142	58866											
MLL3	58508	broad.mit.edu	37	chr7	151962143	151962143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagttctggcacactttGcactcaggacattgccaacc	8	13	2	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:151962143G>A	uc003wla.2	-	8	1383	c.1164C>T	c.(1162-1164)TGC>TGT	p.C388C		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	388	PHD-type 1.|RING-type.|PHD-type 2.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGCACACTTTGCACTCAGGAC	0.408			N		medulloblastoma								A	151962143	G	A	151962143	2	1	92	1	0	0	0	0	0	0	0	1	9622	1311	46	2		2	MLL3	7	151962143	Silent	SNP	G	TCGA-BR-8485-01A-11D-2394-08	23115799	151962143	7176520	143	58867											
LONRF1	91694	broad.mit.edu	37	chr8	12586497	12586497	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaccgctttcctccaacTgtatcaaccacagaccttcc	3	17	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr8:12586497T>C	uc003wwd.1	-	10	1986	c.1923A>G	c.(1921-1923)ACA>ACG	p.T641T	LONRF1_uc011kxv.1_Silent_p.T230T|LONRF1_uc010lsp.1_Silent_p.T241T	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger	641	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(644;0.236)		TTCCTCCAACTGTATCAACCA	0.358													C	12586497	T	C	12586497	2	2	92	1	0	0	0	0	0	0	0	1	8894	1567	55	3		3	LONRF1	8	12586497	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08		12586497	133777525	144	58868											
NRG1	3084	broad.mit.edu	37	chr8	32621594	32621594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacgacccaagagtacgagCcagcccaagagcctgttaag	10	12	0	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr8:32621594C>T	uc003xiv.2	+	12	2114	c.1597C>T	c.(1597-1599)CCA>TCA	p.P533S	NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.P538S|NRG1_uc003xiw.2_Missense_Mutation_p.P530S|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.P275S|NRG1_uc010lvs.2_Missense_Mutation_p.P275S|NRG1_uc010lvp.2_Missense_Mutation_p.P487S|NRG1_uc010lvq.2_Missense_Mutation_p.P470S|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.P376S|NRG1_uc003xja.2_Missense_Mutation_p.P344S	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	533	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGAGTACGAGCCAGCCCAAGA	0.547													T	32621594	C	T	32621594	3	4	92	1	0	0	0	0	1	0	0	0	10647	739	26	2	3368	2	NRG1	8	32621594	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	20035097	32621594	113742428	145	58869											
PREX2	80243	broad.mit.edu	37	chr8	69028107	69028107	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaacgggtatgttttaatgTagcaggagatgaacaggaag	13	4	0	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr8:69028107T>C	uc003xxv.1	+	26	3293	c.3266T>C	c.(3265-3267)GTA>GCA	p.V1089A		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1089					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						TGTTTTAATGTAGCAGGAGAT	0.383													C	69028107	T	C	69028107	3	2	92	1	0	0	0	0	1	0	0	0	12477	1638	57	3	3597	3	PREX2	8	69028107	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	36406513	69028107	77335915	146	58870											
NCOA2	10499	broad.mit.edu	37	chr8	71036127	71036127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgggcactcacctgctcggGacccatggaggacagccctg	13	14	1	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr8:71036127G>A	uc003xyn.1	-	21	4447	c.4285C>T	c.(4285-4287)CCC>TCC	p.P1429S	NCOA2_uc011lfb.1_Missense_Mutation_p.P517S	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1429					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ACCTGCTCGGGACCCATGGAG	0.507			T	RUNXBP2	AML								A	71036127	G	A	71036127	3	1	92	1	0	0	0	0	1	0	0	0	10229	1174	41	4	121	4	NCOA2	8	71036127	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	2008020	71036127	75327895	147	58871											
KCNB2	9312	broad.mit.edu	37	chr8	73480109	73480109	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggggggcctcaaccacgAagtcctgtggagaacgctgg	16	10	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr8:73480109A>G	uc003xzb.2	+	2	728	c.140A>G	c.(139-141)GAA>GGA	p.E47G		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	47	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			CTCAACCACGAAGTCCTGTGG	0.567													G	73480109	A	G	73480109	3	3	92	1	0	0	0	0	1	0	0	0	8013	246	9	3	142	3	KCNB2	8	73480109	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	2443982	73480109	72883913	148	58872											
DECR1	1666	broad.mit.edu	37	chr8	91033213	91033213	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taatgcttggaaaaccataaCtgacatagttctaaatggca	7	7	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr8:91033213C>G	uc003yek.1	+	5	635	c.494C>G	c.(493-495)ACT>AGT	p.T165S	DECR1_uc011lgc.1_Missense_Mutation_p.T156S|DECR1_uc011lgd.1_RNA	NM_001359	NP_001350	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1 precursor	165					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)			AAAACCATAACTGACATAGTT	0.328													G	91033213	C	G	91033213	3	3	92	1	0	0	0	0	1	0	0	0	4382	565	20	5	512	5	DECR1	8	91033213	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	17553104	91033213	55330809	149	58873											
RRM2B	50484	broad.mit.edu	37	chr8	103226371	103226371	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttggaacatcaggcaagcaaAgtcacagtgaagtccctaaa	9	9	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr8:103226371A>T	uc003ykn.2	-	7	944	c.700T>A	c.(700-702)TTT>ATT	p.F234I	RRM2B_uc003yko.2_RNA|RRM2B_uc010mbv.1_Missense_Mutation_p.F182I|RRM2B_uc010mbw.1_Missense_Mutation_p.F22I|RRM2B_uc010mbx.1_Intron|RRM2B_uc010mby.1_Intron	NM_015713	NP_056528	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	234					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			ovary(2)	2	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			AGGCAAGCAAAGTCACAGTGA	0.388								Direct_reversal_of_damage|Modulation_of_nucleotide_pools					T	103226371	A	T	103226371	3	4	92	1	0	0	0	0	1	0	0	0	13683	72	3	5	367	5	RRM2B	8	103226371	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	12193158	103226371	43137651	150	58874											
RIMS2	9699	broad.mit.edu	37	chr8	105261784	105261784	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcatccgggcccgtggccTtgttgtaaaaccaggttcca	10	12	1	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr8:105261784T>C	uc003yls.2	+	26	3954	c.3713T>C	c.(3712-3714)CTT>CCT	p.L1238P	RIMS2_uc003ylp.2_Missense_Mutation_p.L1220P|RIMS2_uc003ylw.2_Missense_Mutation_p.L1227P|RIMS2_uc003ylq.2_Missense_Mutation_p.L1034P|RIMS2_uc003ylr.2_Missense_Mutation_p.L1059P	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1282	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GCCCGTGGCCTTGTTGTAAAA	0.403										HNSCC(12;0.0054)			C	105261784	T	C	105261784	3	2	92	1	0	0	0	0	1	0	0	0	13368	1609	56	3	3941	3	RIMS2	8	105261784	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	2035413	105261784	41102238	151	58875											
CSMD3	114788	broad.mit.edu	37	chr8	113529326	113529326	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctgaatgcaggttattcTttcctctccttgaagttcat	6	10	3	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr8:113529326T>G	uc003ynu.2	-	28	4852	c.4693A>C	c.(4693-4695)AGA>CGA	p.R1565R	CSMD3_uc003yns.2_Silent_p.R837R|CSMD3_uc003ynt.2_Silent_p.R1525R|CSMD3_uc011lhx.1_Silent_p.R1461R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1565	Extracellular (Potential).|Sushi 8.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CAGGTTATTCTTTCCTCTCCT	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113529326	T	G	113529326	2	3	92	1	0	0	0	0	0	0	0	1	3946	1617	56	5		5	CSMD3	8	113529326	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	8267542	113529326	32834696	152	58876											
FLJ43860	389690	broad.mit.edu	37	chr8	142500269	142500269	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcttctgtgtgggaagacGcccgtcaggagctccgtctc	14	12	3	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr8:142500269G>A	uc003ywi.2	-	5	726	c.645C>T	c.(643-645)GGC>GGT	p.G215G	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	215							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GTGGGAAGACGCCCGTCAGGA	0.637													A	142500269	G	A	142500269	2	1	92	1	0	0	0	0	0	0	0	1	5930	1074	38	1		1	FLJ43860	8	142500269	Silent	SNP	G	TCGA-BR-8485-01A-11D-2394-08	28970943	142500269	3863753	153	58877											
ZNF251	90987	broad.mit.edu	37	chr8	145948654	145948654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgcttcccgaaactcagCggcctgtgcattatccctta	7	15	1	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr8:145948654C>T	uc003zdv.3	-	5	647	c.391G>A	c.(391-393)GCT>ACT	p.A131T		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CGAAACTCAGCGGCCTGTGCA	0.443													T	145948654	C	T	145948654	3	4	92	1	0	0	0	0	1	0	0	0	17793	768	27	1	1628	1	ZNF251	8	145948654	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	3448385	145948654	415368	154	58878											
DENND4C	55667	broad.mit.edu	37	chr9	19372168	19372168	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttttggagcgcctctcatTtaaatagagattcactagaa	8	7	2	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:19372168T>G	uc003znq.2	+	28	5052	c.5019T>G	c.(5017-5019)ATT>ATG	p.I1673M	DENND4C_uc011lnc.1_Missense_Mutation_p.I1003M|DENND4C_uc011lnd.1_Missense_Mutation_p.I961M|DENND4C_uc003znr.2_3'UTR|DENND4C_uc003zns.2_3'UTR	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1673						integral to membrane				ovary(1)|skin(1)	2						CGCCTCTCATTTAAATAGAGA	0.403													G	19372168	T	G	19372168	3	3	92	1	0	0	0	0	1	0	0	0	4435	1829	64	5	5129	5	DENND4C	9	19372168	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08		19372168	121841263	155	58879											
SLC24A2	25769	broad.mit.edu	37	chr9	19786835	19786835	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacaccatttctctagggaAgtgatggtggtgctttgttg	12	6	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:19786835A>C	uc003zoa.1	-	1	92	c.30T>G	c.(28-30)ACT>ACG	p.T10T	SLC24A2_uc003zob.1_Silent_p.T10T	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	10					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TCTCTAGGGAAGTGATGGTGG	0.423													C	19786835	A	C	19786835	2	2	92	1	0	0	0	0	0	0	0	1	14466	59	3	5		5	SLC24A2	9	19786835	Silent	SNP	A	TCGA-BR-8485-01A-11D-2394-08	414667	19786835	121426596	156	58880											
TAF1L	138474	broad.mit.edu	37	chr9	32630782	32630782	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggtccattatacttaAcactgttggcaagaataagg	8	8	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:32630782A>C	uc003zrg.1	-	1	4886	c.4796T>G	c.(4795-4797)GTT>GGT	p.V1599G	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1599	Bromo 2.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATTATACTTAACACTGTTGGC	0.403													C	32630782	A	C	32630782	3	2	92	1	0	0	0	0	1	0	0	0	15520	43	2	5	688	5	TAF1L	9	32630782	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	12843947	32630782	108582649	157	58881											
TAF1L	138474	broad.mit.edu	37	chr9	32632465	32632465	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacttcccagcgggacaacTttttaatctcttcctcaggc	6	14	3	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:32632465T>C	uc003zrg.1	-	1	3203	c.3113A>G	c.(3112-3114)AAG>AGG	p.K1038R	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1038					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCGGGACAACTTTTTAATCTC	0.483													C	32632465	T	C	32632465	3	2	92	1	0	0	0	0	1	0	0	0	15520	1609	56	3	2371	3	TAF1L	9	32632465	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	1683	32632465	108580966	158	58882											
SIT1	27240	broad.mit.edu	37	chr9	35650844	35650844	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctgagccgagggtcagcctGgttcatggcctgacggtttc	14	11	3	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:35650844G>C	uc003zxe.1	-	1	104	c.7C>G	c.(7-9)CAG>GAG	p.Q3E	SIT1_uc003zxf.1_RNA	NM_014450	NP_055265	Q9Y3P8	SIT1_HUMAN	SHP2-interacting transmembrane adaptor protein	3					regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding				0			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGTCAGCCTGGTTCATGGCC	0.587													C	35650844	G	C	35650844	3	2	92	1	0	0	0	0	1	0	0	0	14344	1357	47	5	603	5	SIT1	9	35650844	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	3018379	35650844	105562587	159	58883											
APBA1	320	broad.mit.edu	37	chr9	72131002	72131002	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcatgacccagatgggctcTttgggctcgtcgggggtgta	16	10	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:72131002T>C	uc004ahh.2	-	2	1401	c.1125A>G	c.(1123-1125)AAA>AAG	p.K375K		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	375	LIN-2/CASK binding.|Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						AGATGGGCTCTTTGGGCTCGT	0.602													C	72131002	T	C	72131002	2	2	92	1	0	0	0	0	0	0	0	1	756	1606	56	3		3	APBA1	9	72131002	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	36480158	72131002	69082429	160	58884											
ZNF484	83744	broad.mit.edu	37	chr9	95609123	95609123	+	Frame_Shift_Del	DEL	G	G	-													tctggtgtgtaaagagatttGatctgtcagtaaaagccttt							TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:95609123delG	uc004asu.1	-	5	2095	c.1946delC	c.(1945-1947)TCAfs	p.S649fs	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Frame_Shift_Del_p.S651fs|ZNF484_uc010mrb.1_Frame_Shift_Del_p.S613fs|ZNF484_uc004asv.1_Frame_Shift_Del_p.S613fs	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	649	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAAGAGATTTGATCTGTCAGT	0.418													-	95609123	G	-	95609123	7	5	92	1	0	1	0	1	0	0	0	0	17934	1294	45	0	616	0	ZNF484	9	95609123	Frame_Shift_Del	DEL	G	TCGA-BR-8485-01A-11D-2394-08	23478121	95609123	45604308	161	58885											
KIAA1529	57653	broad.mit.edu	37	chr9	100124034	100124034	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctgaaggaccaggaggaAgacagtgacatcctgacatc	11	10	0	4			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:100124034A>C	uc011lut.1	+	39	4832	c.4059A>C	c.(4057-4059)GAA>GAC	p.E1353D	KIAA1529_uc004axe.1_Missense_Mutation_p.E1185D|KIAA1529_uc004axg.1_Missense_Mutation_p.E1214D|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.E370D	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				ACCAGGAGGAAGACAGTGACA	0.602													C	100124034	A	C	100124034	3	2	92	1	0	0	0	0	1	0	0	0	8240	69	3	5	3661	5	KIAA1529	9	100124034	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	4514911	100124034	41089397	162	58886											
OR13F1	138805	broad.mit.edu	37	chr9	107267289	107267289	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcccacctgatggtggtagTtttgttctatgggacggctc	13	9	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:107267289T>G	uc011lvm.1	+	1	746	c.746T>G	c.(745-747)GTT>GGT	p.V249G		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F,	249	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)|skin(1)	3						ATGGTGGTAGTTTTGTTCTAT	0.478													G	107267289	T	G	107267289	3	3	92	1	0	0	0	0	1	0	0	0	10941	1725	60	5	748	5	OR13F1	9	107267289	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	7143255	107267289	33946142	163	58887											
OR1L6	392390	broad.mit.edu	37	chr9	125512140	125512140	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagacatggagataaagaActacagcagcagcacctcag	10	10	1	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:125512140A>C	uc011lzc.1	+	1	122	c.122A>C	c.(121-123)AAC>ACC	p.N41T		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L,	41	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GAGATAAAGAACTACAGCAGC	0.498													C	125512140	A	C	125512140	3	2	92	1	0	0	0	0	1	0	0	0	10966	43	2	5	16	5	OR1L6	9	125512140	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	18244851	125512140	15701291	164	58888											
C9orf119	375757	broad.mit.edu	37	chr9	131038425	131038425	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcggaagggggcgtggctAtgcagcggcgtggccagagg	21	8	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:131038425A>C	uc004bup.2	+	1	1	c.1A>C	c.(1-3)ATG>CTG	p.M1L	GOLGA2_uc011maw.1_5'Flank|GOLGA2_uc010mxw.2_5'Flank|GOLGA2_uc004bul.1_5'Flank|C9orf119_uc010mxx.1_Missense_Mutation_p.M1L	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	hypothetical protein LOC375757	1					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding				0						GGGCGTGGCTATGCAGCGGCG	0.637													C	131038425	A	C	131038425	3	2	92	1	0	0	0	0	1	0	0	0	2452	463	16	5	3	5	C9orf119	9	131038425	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	5526285	131038425	10175006	165	58889											
TRUB2	26995	broad.mit.edu	37	chr9	131077859	131077859	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtaccttggtaagatgaGcattgtacatatcggtgagg	12	7	0	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:131077859G>T	uc004buq.1	-	4	375	c.365C>A	c.(364-366)GCT>GAT	p.A122D		NM_015679	NP_056494	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase homolog 2	122					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			ovary(1)	1						GGTAAGATGAGCATTGTACAT	0.572													T	131077859	G	T	131077859	3	4	92	1	0	0	0	0	1	0	0	0	16600	971	34	5	650	5	TRUB2	9	131077859	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	39434	131077859	10135572	166	58890											
COL5A1	1289	broad.mit.edu	37	chr9	137711978	137711978	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagggtcatccaggcctgaTcgggctcatcggtcctccgg	13	14	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:137711978T>G	uc004cfe.2	+	58	4845	c.4463T>G	c.(4462-4464)ATC>AGC	p.I1488S	uc004cff.2_RNA	NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1488	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAGGCCTGATCGGGCTCATC	0.642													G	137711978	T	G	137711978	3	3	92	1	0	0	0	0	1	0	0	0	3696	1435	50	5	4693	5	COL5A1	9	137711978	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	6634119	137711978	3501453	167	58891											
ABCA2	20	broad.mit.edu	37	chr9	139905696	139905696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatctccatgagcccgtgGcccaggttgtagttggggaa	14	11	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:139905696G>A	uc011mem.1	-	37	6010	c.5862C>T	c.(5860-5862)GGC>GGT	p.G1954G	ABCA2_uc011mel.1_Silent_p.G1955G|ABCA2_uc004ckl.1_Silent_p.G1885G|ABCA2_uc004ckm.1_Silent_p.G1985G	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1954					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGAGCCCGTGGCCCAGGTTGT	0.627													A	139905696	G	A	139905696	2	1	92	1	0	0	0	0	0	0	0	1	32	1190	42	2		2	ABCA2	9	139905696	Silent	SNP	G	TCGA-BR-8485-01A-11D-2394-08	2193718	139905696	1307735	168	58892											
PRKCQ	5588	broad.mit.edu	37	chr10	6520990	6520990	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaacatgtgcgtcagaaaCggatgctcccaggccaagga	11	11	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr10:6520990C>T	uc001ijj.1	-	12	1392	c.1317G>A	c.(1315-1317)CCG>CCA	p.P439P	PRKCQ_uc009xim.1_Silent_p.P439P|PRKCQ_uc001iji.1_Silent_p.P472P|PRKCQ_uc009xin.1_Silent_p.P403P|PRKCQ_uc010qax.1_Silent_p.P314P	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	439	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						GCGTCAGAAACGGATGCTCCC	0.478													T	6520990	C	T	6520990	2	4	92	1	0	0	0	0	0	0	0	1	12515	523	19	1		1	PRKCQ	10	6520990	Silent	SNP	C	TCGA-BR-8485-01A-11D-2394-08		6520990	129013757	169	58893											
SEPHS1	22929	broad.mit.edu	37	chr10	13370452	13370452	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttattccatttctcaggcTgataatagaaatgtaggtga	8	6	2	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr10:13370452T>A	uc001imk.2	-	7	1011	c.652_splice	c.e7-1	p.P218_splice	SEPHS1_uc001imh.2_Splice_Site_p.P142_splice|SEPHS1_uc010qbs.1_Splice_Site_p.P170_splice|SEPHS1_uc001imi.2_Splice_Site_p.P218_splice|SEPHS1_uc001imj.2_Splice_Site_p.P218_splice|SEPHS1_uc010qbt.1_Splice_Site_p.P151_splice	NM_012247	NP_036379	P49903	SPS1_HUMAN	selenophosphate synthetase 1						protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			skin(1)	1						TTTCTCAGGCTGATAATAGAA	0.403													A	13370452	T	A	13370452	5	1	92	1	0	0	0	0	0	0	1	0	14054	1594	55	5	540	5	SEPHS1	10	13370452	Splice_Site	SNP	T	TCGA-BR-8485-01A-11D-2394-08	6849462	13370452	122164295	170	58894											
CUBN	8029	broad.mit.edu	37	chr10	16970291	16970291	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgctagctgctgggccaAgttattatctcctacgttga	9	10	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr10:16970291A>C	uc001ioo.2	-	41	6188	c.6136T>G	c.(6136-6138)TTG>GTG	p.L2046V		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2046	CUB 14.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCTGGGCCAAGTTATTATCT	0.473													C	16970291	A	C	16970291	3	2	92	1	0	0	0	0	1	0	0	0	4051	69	3	5	4843	5	CUBN	10	16970291	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	3599839	16970291	118564456	171	58895											
ARL5B	221079	broad.mit.edu	37	chr10	18957582	18957582	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gagtctctgcgatcatcctgGaacacatattactcaaatac	6	11	3	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr10:18957582G>C	uc001iqd.1	+	3	485	c.231G>C	c.(229-231)TGG>TGC	p.W77C		NM_178815	NP_848930	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 8	77					small GTPase mediated signal transduction	intracellular	GTP binding			ovary(1)	1						GATCATCCTGGAACACATATT	0.383													C	18957582	G	C	18957582	3	2	92	1	0	0	0	0	1	0	0	0	940	1183	41	5	241	5	ARL5B	10	18957582	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	1987291	18957582	116577165	172	58896											
CSTF2T	23283	broad.mit.edu	37	chr10	53458078	53458078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgctcgagaatctctaccaCctctaccatccataggtaga	6	14	2	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr10:53458078C>T	uc001jjp.2	-	1	1278	c.1232G>A	c.(1231-1233)GGT>GAT	p.G411D	PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit	411	Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			ovary(1)	1				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		ATCTCTACCACCTCTACCATC	0.522													T	53458078	C	T	53458078	3	4	92	1	0	0	0	0	1	0	0	0	3985	507	18	4	622	4	CSTF2T	10	53458078	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	34500496	53458078	82076669	173	58897											
DKK1	22943	broad.mit.edu	37	chr10	54074399	54074399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgccgggaatcctgtacCcgggcgggaataagtaccag	14	13	0	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr10:54074399C>T	uc001jjr.2	+	1	359	c.205C>T	c.(205-207)CCG>TCG	p.P69S	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	dickkopf homolog 1 precursor	69					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						AATCCTGTACCCGGGCGGGAA	0.617											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	54074399	C	T	54074399	3	4	92	1	0	0	0	0	1	0	0	0	4544	623	22	4	207	4	DKK1	10	54074399	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	616321	54074399	81460348	174	58898											
FAM13C	220965	broad.mit.edu	37	chr10	61011428	61011428	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctcggagatggtcaagaAgtacaggcctatataaggta	11	6	2	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr10:61011428A>C	uc001jkn.2	-	14	1675	c.1541T>G	c.(1540-1542)CTT>CGT	p.L514R	FAM13C_uc001jko.2_Missense_Mutation_p.L416R|FAM13C_uc010qid.1_Missense_Mutation_p.L430R|FAM13C_uc010qie.1_Missense_Mutation_p.L431R|FAM13C_uc010qif.1_Missense_Mutation_p.L536R	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	514										ovary(2)	2						ATGGTCAAGAAGTACAGGCCT	0.393													C	61011428	A	C	61011428	3	2	92	1	0	0	0	0	1	0	0	0	5454	72	3	5	224	5	FAM13C	10	61011428	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	6937029	61011428	74523319	175	58899											
FAM190B	54462	broad.mit.edu	37	chr10	86131567	86131567	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggatcttacaaagccTtatcagaaccaacagctatc	7	11	2	1	rs146103957	byFrequency	TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr10:86131567T>A	uc001kdh.1	+	2	953	c.759T>A	c.(757-759)CCT>CCA	p.P253P	FAM190B_uc001kdg.1_Silent_p.P253P|FAM190B_uc010qmd.1_Silent_p.P253P	NM_018999	NP_061872	Q9H7U1	F190B_HUMAN	granule cell antiserum positive 14	253										ovary(3)|skin(1)	4						TTACAAAGCCTTATCAGAACC	0.408													A	86131567	T	A	86131567	2	1	92	1	0	0	0	0	0	0	0	1	5522	1596	56	5		5	FAM190B	10	86131567	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	25120139	86131567	49403180	176	58900											
LIPF	8513	broad.mit.edu	37	chr10	90435384	90435384	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacataatccagcaggaacTtctgttcaaaacatgttcca	5	11	3	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr10:90435384T>G	uc001kfg.1	+	8	1024	c.858T>G	c.(856-858)ACT>ACG	p.T286T	LIPF_uc001kfh.1_Silent_p.T263T|LIPF_uc010qmt.1_Silent_p.T296T|LIPF_uc010qmu.1_Silent_p.T253T	NM_004190	NP_004181	P07098	LIPG_HUMAN	lipase, gastric precursor	286					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity				0		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		CAGCAGGAACTTCTGTTCAAA	0.348													G	90435384	T	G	90435384	2	3	92	1	0	0	0	0	0	0	0	1	8822	1596	56	5		5	LIPF	10	90435384	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	4303817	90435384	45099363	177	58901											
CYP2E1	1571	broad.mit.edu	37	chr10	135340998	135340998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcagctggaatctgccCccaggccctttcccgcttcc	8	19	1	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr10:135340998C>T	uc001lnj.1	+	1	132	c.99C>T	c.(97-99)CCC>CCT	p.P33P	CYP2E1_uc001lnk.1_5'UTR|CYP2E1_uc009ybl.1_5'UTR|CYP2E1_uc009ybm.1_5'UTR	NM_000773	NP_000764	P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E,	33					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			central_nervous_system(3)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GGAATCTGCCCCCAGGCCCTT	0.572									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				T	135340998	C	T	135340998	2	4	92	1	0	0	0	0	0	0	0	1	4170	610	22	4		4	CYP2E1	10	135340998	Silent	SNP	C	TCGA-BR-8485-01A-11D-2394-08	44905614	135340998	193749	178	58902											
LRDD	55367	broad.mit.edu	37	chr11	803460	803460	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatctgcaggacacaggcCggcagtgtctccaggctgtt	13	13	2	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:803460C>T	uc001lro.1	-	3	565	c.423G>A	c.(421-423)CCG>CCA	p.P141P	LRDD_uc009yck.1_5'Flank|LRDD_uc001lrk.1_Silent_p.P141P|LRDD_uc001lrl.1_5'UTR|LRDD_uc001lrm.1_5'UTR|LRDD_uc001lrn.1_5'UTR|LRDD_uc001lrp.1_5'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing	141	LRR 1.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGACACAGGCCGGCAGTGTCT	0.667													T	803460	C	T	803460	2	4	92	1	0	0	0	0	0	0	0	1	8936	639	23	1		1	LRDD	11	803460	Silent	SNP	C	TCGA-BR-8485-01A-11D-2394-08		803460	134203056	179	58903											
KCNQ1	3784	broad.mit.edu	37	chr11	2549242	2549242	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggccacggggactctcttCtggatggtacgtagcatctg	13	11	3	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:2549242C>T	uc001lwn.2	+	2	579	c.471C>T	c.(469-471)TTC>TTT	p.F157F	KCNQ1_uc009ydo.1_3'UTR|KCNQ1_uc009ydp.1_Missense_Mutation_p.S10F|KCNQ1_uc001lwo.2_Silent_p.F30F	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like	157	Helical; Name=Segment S2; (Potential).		F -> C (in LQT1).		blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			ovary(1)	1		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GGACTCTCTTCTGGATGGTAC	0.617													T	2549242	C	T	2549242	2	4	92	1	0	0	0	0	0	0	0	1	8082	912	32	4		4	KCNQ1	11	2549242	Silent	SNP	C	TCGA-BR-8485-01A-11D-2394-08	1745782	2549242	132457274	180	58904											
OR51F2	119694	broad.mit.edu	37	chr11	4843208	4843208	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttactgctaccatgttgatcTcatccaactctcctgcacag	5	14	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:4843208T>C	uc010qyn.1	+	1	593	c.593T>C	c.(592-594)CTC>CCC	p.L198P		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F,	198	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATGTTGATCTCATCCAACTC	0.473													C	4843208	T	C	4843208	3	2	92	1	0	0	0	0	1	0	0	0	11097	1551	54	3	595	3	OR51F2	11	4843208	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	2293966	4843208	130163308	181	58905											
OR52N1	79473	broad.mit.edu	37	chr11	5809914	5809914	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaggtacataaggccgaAgttccctgtaatagcaatgc	11	8	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:5809914A>C	uc010qzo.1	-	1	133	c.133T>G	c.(133-135)TTC>GTC	p.F45V	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATAAGGCCGAAGTTCCCTGTA	0.463													C	5809914	A	C	5809914	3	2	92	1	0	0	0	0	1	0	0	0	11127	72	3	5	832	5	OR52N1	11	5809914	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	966706	5809914	129196602	182	58906											
NLRP14	338323	broad.mit.edu	37	chr11	7064294	7064294	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaccagttttttgaagataAgaggtgggccatgaaagtat	11	4	0	4			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:7064294A>C	uc001mfb.1	+	4	1360	c.1037A>C	c.(1036-1038)AAG>ACG	p.K346T		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	346	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TTTGAAGATAAGAGGTGGGCC	0.423													C	7064294	A	C	7064294	3	2	92	1	0	0	0	0	1	0	0	0	10476	72	3	5	1047	5	NLRP14	11	7064294	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	1254380	7064294	127942222	183	58907											
KCNC1	3746	broad.mit.edu	37	chr11	17793502	17793502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgactttgtggccatcctGcccttctacctggaggtggg	12	11	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:17793502G>A	uc001mnk.3	+	2	916	c.861G>A	c.(859-861)CTG>CTA	p.L287L	KCNC1_uc009yhc.1_Silent_p.L287L	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	287	Helical; Name=Segment S3; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						TGGCCATCCTGCCCTTCTACC	0.577													A	17793502	G	A	17793502	2	1	92	1	0	0	0	0	0	0	0	1	8014	1306	46	2		2	KCNC1	11	17793502	Silent	SNP	G	TCGA-BR-8485-01A-11D-2394-08	10729208	17793502	117213014	184	58908											
NELL1	4745	broad.mit.edu	37	chr11	20907078	20907078	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgcaaccaaaagcatggcTtattcaaagtaagcactaac	7	10	1	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:20907078T>C	uc001mqe.2	+	5	748	c.595T>C	c.(595-597)TTA>CTA	p.L199L	NELL1_uc001mqf.2_Silent_p.L199L|NELL1_uc009yid.2_Silent_p.L227L|NELL1_uc010rdo.1_Silent_p.L142L|NELL1_uc010rdp.1_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	199	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						AAAGCATGGCTTATTCAAAGT	0.388													C	20907078	T	C	20907078	2	2	92	1	0	0	0	0	0	0	0	1	10333	1606	56	3		3	NELL1	11	20907078	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	3113576	20907078	114099438	185	58909											
ANO3	63982	broad.mit.edu	37	chr11	26663444	26663444	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgctctgtgatgtaggTtgatccagaactggtggtca	14	7	3	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:26663444T>C	uc001mqt.3	+	22	2288	c.2143T>C	c.(2143-2145)TTG>CTG	p.L715L	ANO3_uc010rdr.1_Silent_p.L699L|ANO3_uc010rds.1_Silent_p.L554L|ANO3_uc010rdt.1_Silent_p.L569L	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	715	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GTGATGTAGGTTGATCCAGAA	0.423													C	26663444	T	C	26663444	2	2	92	1	0	0	0	0	0	0	0	1	698	1739	60	3		3	ANO3	11	26663444	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	5756366	26663444	108343072	186	58910											
KCNA4	3739	broad.mit.edu	37	chr11	30033274	30033274	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaagatgacaatggagattaAgatgaccaggacggacacaa	11	6	0	5			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:30033274A>T	uc001msk.2	-	2	2104	c.952T>A	c.(952-954)TTA>ATA	p.L318I		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	318	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						ATGGAGATTAAGATGACCAGG	0.502													T	30033274	A	T	30033274	3	4	92	1	0	0	0	0	1	0	0	0	8005	69	3	5	1013	5	KCNA4	11	30033274	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	3369830	30033274	104973242	187	58911											
IMMP1L	196294	broad.mit.edu	37	chr11	31454111	31454111	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccaaaatcactcagaggcCaaatctgtaaaatcaaaatg	5	9	4	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:31454111C>A	uc001msy.1	-	7	633	c.437G>T	c.(436-438)TGG>TTG	p.W146L	IMMP1L_uc001msz.1_Missense_Mutation_p.W146L|DNAJC24_uc001msx.2_3'UTR|DNAJC24_uc009yjm.2_3'UTR|DNAJC24_uc009yjn.1_RNA	NM_144981	NP_659418	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane	146					proteolysis	mitochondrial inner membrane	serine-type peptidase activity				0	Lung SC(675;0.225)					ACTCAGAGGCCAAATCTGTAA	0.353													A	31454111	C	A	31454111	3	1	92	1	0	0	0	0	1	0	0	0	7716	595	21	5	67	5	IMMP1L	11	31454111	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	1420837	31454111	103552405	188	58912											
OR4S1	256148	broad.mit.edu	37	chr11	48327862	48327862	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atacatgctttgtggtattcTtcctctttcatgtgctcact	6	10	4	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:48327862T>G	uc010rhu.1	+	1	88	c.88T>G	c.(88-90)TTC>GTC	p.F30V		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TGTGGTATTCTTCCTCTTTCA	0.453													G	48327862	T	G	48327862	3	3	92	1	0	0	0	0	1	0	0	0	11082	1609	56	5	90	5	OR4S1	11	48327862	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	16873751	48327862	86678654	189	58913											
OR4C13	283092	broad.mit.edu	37	chr11	49974429	49974429	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgggtaggaggctttcTtcatgcaaccatacagatcc	10	10	3	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:49974429T>G	uc010rhz.1	+	1	455	c.455T>G	c.(454-456)CTT>CGT	p.L152R		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						GGAGGCTTTCTTCATGCAACC	0.448													G	49974429	T	G	49974429	3	3	92	1	0	0	0	0	1	0	0	0	11047	1609	56	5	457	5	OR4C13	11	49974429	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	1646567	49974429	85032087	190	58914											
OR4A5	81318	broad.mit.edu	37	chr11	51411522	51411522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtttttctatagcatttcTcatctctgaatttctcaacg	5	9	4	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:51411522T>C	uc001nhi.1	-	1	874	c.874A>G	c.(874-876)AGA>GGA	p.R292G		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	292	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				ATAGCATTTCTCATCTCTGAA	0.343													C	51411522	T	C	51411522	3	2	92	1	0	0	0	0	1	0	0	0	11043	1559	54	3	77	3	OR4A5	11	51411522	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	1437093	51411522	83594994	191	58915											
OR5D14	219436	broad.mit.edu	37	chr11	55563320	55563320	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagataaaagcatcttctacTttagctgcatgatgcagtac	7	9	2	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:55563320T>G	uc010rim.1	+	1	289	c.289T>G	c.(289-291)TTT>GTT	p.F97V		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	97	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)				CATCTTCTACTTTAGCTGCAT	0.453													G	55563320	T	G	55563320	3	3	92	1	0	0	0	0	1	0	0	0	11155	1609	56	5	291	5	OR5D14	11	55563320	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	4151798	55563320	79443196	192	58916											
SPRYD5	84767	broad.mit.edu	37	chr11	55653074	55653074	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgctctgaatgcaagaAgacaacgcggcagagaaacc	11	10	2	4			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:55653074A>C	uc010rip.1	+	2	262	c.170A>C	c.(169-171)AAG>ACG	p.K57T	SPRYD5_uc010riq.1_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	57						intracellular	zinc ion binding				0		all_epithelial(135;0.226)				GAATGCAAGAAGACAACGCGG	0.512													C	55653074	A	C	55653074	3	2	92	1	0	0	0	0	1	0	0	0	15110	72	3	5	172	5	SPRYD5	11	55653074	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	89754	55653074	79353442	193	58917											
SPRYD5	84767	broad.mit.edu	37	chr11	55659067	55659067	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatccccaattgctccttcTcacctcctctcaggcctatc	3	20	2	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:55659067T>C	uc010rip.1	+	7	1410	c.1318T>C	c.(1318-1320)TCA>CCA	p.S440P	SPRYD5_uc010riq.1_Missense_Mutation_p.S297P	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	440	B30.2/SPRY.					intracellular	zinc ion binding				0		all_epithelial(135;0.226)				TTGCTCCTTCTCACCTCCTCT	0.458													C	55659067	T	C	55659067	3	2	92	1	0	0	0	0	1	0	0	0	15110	1551	54	3	1340	3	SPRYD5	11	55659067	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	5993	55659067	79347449	194	58918											
OR8J3	81168	broad.mit.edu	37	chr11	55905014	55905014	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctagatgtctcaggaaaaAgtacatggggttttgaagtc	12	5	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:55905014A>G	uc010riz.1	-	1	181	c.181T>C	c.(181-183)TTT>CTT	p.F61L		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	61	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					CTCAGGAAAAAGTACATGGGG	0.443													G	55905014	A	G	55905014	3	3	92	1	0	0	0	0	1	0	0	0	11242	72	3	3	768	3	OR8J3	11	55905014	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	245947	55905014	79101502	195	58919											
OR5J2	282775	broad.mit.edu	37	chr11	55944631	55944631	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgtcagccacttcttctgtGacattccttcactgctaaag	6	13	4	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:55944631G>T	uc010rjb.1	+	1	538	c.538G>T	c.(538-540)GAC>TAC	p.D180Y		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	180	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					CTTCTTCTGTGACATTCCTTC	0.448													T	55944631	G	T	55944631	3	4	92	1	0	0	0	0	1	0	0	0	11165	1290	45	5	540	5	OR5J2	11	55944631	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	39617	55944631	79061885	196	58920											
OR5T3	390154	broad.mit.edu	37	chr11	56020319	56020319	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgatatgcctcctctccTtgctatttcttgttctgaca	6	11	3	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:56020319T>A	uc010rjd.1	+	1	644	c.644T>A	c.(643-645)CTT>CAT	p.L215H		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	215	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					CCTCCTCTCCTTGCTATTTCT	0.403													A	56020319	T	A	56020319	3	1	92	1	0	0	0	0	1	0	0	0	11183	1609	56	5	646	5	OR5T3	11	56020319	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	75688	56020319	78986197	197	58921											
OR8K1	390157	broad.mit.edu	37	chr11	56113842	56113842	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgccactcagctagcattcTttgagattttcatcatctct	5	11	5	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:56113842T>G	uc010rjg.1	+	1	328	c.328T>G	c.(328-330)TTT>GTT	p.F110V		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					GCTAGCATTCTTTGAGATTTT	0.408										HNSCC(65;0.19)			G	56113842	T	G	56113842	3	3	92	1	0	0	0	0	1	0	0	0	11243	1609	56	5	330	5	OR8K1	11	56113842	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	93523	56113842	78892674	198	58922											
OR5M11	219487	broad.mit.edu	37	chr11	56309940	56309940	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttagattcctcaacagtcTtatctgttggtggtcttata	7	7	4	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:56309940T>A	uc010rjl.1	-	1	794	c.794A>T	c.(793-795)AAG>ATG	p.K265M		NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M,	265	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTCAACAGTCTTATCTGTTGG	0.418													A	56309940	T	A	56309940	3	1	92	1	0	0	0	0	1	0	0	0	11174	1609	56	5	126	5	OR5M11	11	56309940	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	196098	56309940	78696576	199	58923											
MPEG1	219972	broad.mit.edu	37	chr11	58979085	58979085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgggataacaggtgcacCggggagtagccagaggggca	17	8	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:58979085C>T	uc001nnu.3	-	1	1410	c.1254G>A	c.(1252-1254)CCG>CCA	p.P418P		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	418	Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)				ACAGGTGCACCGGGGAGTAGC	0.542													T	58979085	C	T	58979085	2	4	92	1	0	0	0	0	0	0	0	1	9723	639	23	1		1	MPEG1	11	58979085	Silent	SNP	C	TCGA-BR-8485-01A-11D-2394-08	2669145	58979085	76027431	200	58924											
GIF	2694	broad.mit.edu	37	chr11	59599167	59599167	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttcattcaaaggtgtTacaccactaagaaactgcca	5	12	3	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:59599167T>C	uc001noi.2	-	8	1224	c.1176A>G	c.(1174-1176)GTA>GTG	p.V392V		NM_005142	NP_005133	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	392	Cobalamin binding.				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			ovary(1)|liver(1)	2						TCAAAGGTGTTACACCACTAA	0.343													C	59599167	T	C	59599167	2	2	92	1	0	0	0	0	0	0	0	1	6376	1741	61	3		3	GIF	11	59599167	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	620082	59599167	75407349	201	58925											
GIF	2694	broad.mit.edu	37	chr11	59609977	59609977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcggacggctatcggcaaGgtcgcctcagagttcttctg	13	11	3	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:59609977G>A	uc001noi.2	-	4	498	c.450C>T	c.(448-450)ACC>ACT	p.T150T	GIF_uc010rkz.1_3'UTR	NM_005142	NP_005133	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	150					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			ovary(1)|liver(1)	2						CTATCGGCAAGGTCGCCTCAG	0.577													A	59609977	G	A	59609977	2	1	92	1	0	0	0	0	0	0	0	1	6376	987	35	4		4	GIF	11	59609977	Silent	SNP	G	TCGA-BR-8485-01A-11D-2394-08	10810	59609977	75396539	202	58926											
OVOL1	5017	broad.mit.edu	37	chr11	65562559	65562559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgtgacaaggccttcaCgcagcgctgctctctggagt	12	13	2	1	rs151272806		TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:65562559C>T	uc001ofp.2	+	4	867	c.551C>T	c.(550-552)ACG>ATG	p.T184M	OVOL1_uc001ofq.2_Missense_Mutation_p.T122M	NM_004561	NP_004552	O14753	OVOL1_HUMAN	OVO-like 1 binding protein	184	C2H2-type 3.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.17)		AAGGCCTTCACGCAGCGCTGC	0.617													T	65562559	C	T	65562559	3	4	92	1	0	0	0	0	1	0	0	0	11326	536	19	1	565	1	OVOL1	11	65562559	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	5952582	65562559	69443957	203	58927											
DLG2	1740	broad.mit.edu	37	chr11	84996396	84996396	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttagcaatgtcacctcataAaattcttggatatctgtaaa	5	7	4	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:84996396A>G	uc001pak.2	-	4	366	c.54T>C	c.(52-54)TTT>TTC	p.F18F		NM_001142699	NP_001136171	Q15700	DLG2_HUMAN	chapsyn-110 isoform 1	Error:Variant_position_missing_in_Q15700_after_alignment						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCACCTCATAAAATTCTTGGA	0.333													G	84996396	A	G	84996396	2	3	92	1	0	0	0	0	0	0	0	1	4555	11	1	3		3	DLG2	11	84996396	Silent	SNP	A	TCGA-BR-8485-01A-11D-2394-08	19433837	84996396	50010120	204	58928											
GRM5	2915	broad.mit.edu	37	chr11	88258487	88258487	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttgcttacctgctcattgTtgctctcccaccattcccca	5	16	2	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:88258487T>G	uc001pcq.2	-	8	2916	c.2716A>C	c.(2716-2718)ACA>CCA	p.T906P	GRM5_uc009yvm.2_Intron	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	906	Cytoplasmic (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTGCTCATTGTTGCTCTCCCA	0.507													G	88258487	T	G	88258487	3	3	92	1	0	0	0	0	1	0	0	0	6800	1725	60	5	930	5	GRM5	11	88258487	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	3262091	88258487	46748029	205	58929											
TYR	7299	broad.mit.edu	37	chr11	88911404	88911404	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgccagtgctctggcaacTtcatgggattcaactgtgga	11	11	3	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:88911404T>C	uc001pcs.2	+	1	365	c.283T>C	c.(283-285)TTC>CTC	p.F95L		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	95	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CTCTGGCAACTTCATGGGATT	0.502									Oculocutaneous_Albinism				C	88911404	T	C	88911404	3	2	92	1	0	0	0	0	1	0	0	0	16810	1609	56	3	285	3	TYR	11	88911404	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	652917	88911404	46095112	206	58930											
KDM4D	55693	broad.mit.edu	37	chr11	94732108	94732108	+	Nonstop_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgggcccctgtgccctaAgtccacgggctgtctttata	11	13	1	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:94732108A>C	uc001pfe.2	+	3	2404	c.1572A>C	c.(1570-1572)TAA>TAC	p.*524Y		NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	jumonji domain containing 2D	524					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CTGTGCCCTAAGTCCACGGGC	0.532													C	94732108	A	C	94732108	4	2	92	1	0	0	0	0	0	0	0	0	8131	79	3	5	1574	5	KDM4D	11	94732108	Nonstop_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	5820704	94732108	40274408	207	58931											
TRPC6	7225	broad.mit.edu	37	chr11	101454101	101454101	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtagcaaggcagcggggctTgcgggcagccgtcttctccc	15	14	2	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:101454101T>C	uc001pgk.3	-	1	559	c.134A>G	c.(133-135)CAA>CGA	p.Q45R	TRPC6_uc009ywy.2_Missense_Mutation_p.Q45R|TRPC6_uc009ywz.1_Missense_Mutation_p.Q45R	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	45	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CAGCGGGGCTTGCGGGCAGCC	0.716													C	101454101	T	C	101454101	3	2	92	1	0	0	0	0	1	0	0	0	16580	1812	63	3	2713	3	TRPC6	11	101454101	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	6721993	101454101	33552415	208	58932											
CARD18	59082	broad.mit.edu	37	chr11	105009613	105009613	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgataaatttgcagcaagacTtgggtccttttccagtaaca	8	8	0	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:105009613T>C	uc001pis.2	-	1	200	c.194A>G	c.(193-195)AAG>AGG	p.K65R		NM_021571	NP_067546	P57730	CAR18_HUMAN	ICEBERG caspase-1 inhibitor	67	CARD.				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			ovary(1)|central_nervous_system(1)	2						GCAGCAAGACTTGGGTCCTTT	0.418													C	105009613	T	C	105009613	3	2	92	1	0	0	0	0	1	0	0	0	2649	1609	56	3	76	3	CARD18	11	105009613	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	3555512	105009613	29996903	209	58933											
ELMOD1	55531	broad.mit.edu	37	chr11	107518220	107518220	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattcttgaagcccaatacTccactggaatctcggatttc	6	11	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:107518220T>G	uc010rvs.1	+	7	851	c.447T>G	c.(445-447)ACT>ACG	p.T149T	ELMOD1_uc001pjm.2_Silent_p.T149T|ELMOD1_uc010rvt.1_Silent_p.T143T	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1 isoform 1	149	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity				0		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		AGCCCAATACTCCACTGGAAT	0.383													G	107518220	T	G	107518220	2	3	92	1	0	0	0	0	0	0	0	1	5068	1538	54	5		5	ELMOD1	11	107518220	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	2508607	107518220	27488296	210	58934											
DRD2	1813	broad.mit.edu	37	chr11	113295322	113295322	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgttgaagggccggctccAgttctgcctctccagatcat	10	15	3	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:113295322A>G	uc001pnz.2	-	1	373	c.52T>C	c.(52-54)TGG>CGG	p.W18R	DRD2_uc010rwv.1_Missense_Mutation_p.W18R|DRD2_uc001poa.3_Missense_Mutation_p.W18R|DRD2_uc001pob.3_Missense_Mutation_p.W18R|DRD2_uc009yyr.1_Missense_Mutation_p.W18R	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	18	Extracellular (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GGCCGGCTCCAGTTCTGCCTC	0.582													G	113295322	A	G	113295322	3	3	92	1	0	0	0	0	1	0	0	0	4757	188	7	3	1307	3	DRD2	11	113295322	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	5777102	113295322	21711194	211	58935											
MLL	4297	broad.mit.edu	37	chr11	118392870	118392870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtggcgccaagaaatgcCggaagttcctaaactaaagc	10	10	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:118392870C>T	uc001pta.2	+	36	11916	c.11893C>T	c.(11893-11895)CGG>TGG	p.R3965W	MLL_uc001ptb.2_Missense_Mutation_p.R3968W|MLL_uc001ptf.2_5'Flank	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3965	Post-SET.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAAGAAATGCCGGAAGTTCCT	0.542			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								T	118392870	C	T	118392870	3	4	92	1	0	0	0	0	1	0	0	0	9620	643	23	1	12035	1	MLL	11	118392870	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	5097548	118392870	16613646	212	58936											
TECTA	7007	broad.mit.edu	37	chr11	121008322	121008322	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caactttgaggggcaccaacTtgccaccaatgagaccttct	8	13	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:121008322T>G	uc010rzo.1	+	10	3134	c.3134T>G	c.(3133-3135)CTT>CGT	p.L1045R		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1045					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGGCACCAACTTGCCACCAAT	0.567													G	121008322	T	G	121008322	3	3	92	1	0	0	0	0	1	0	0	0	15744	1609	56	5	3172	5	TECTA	11	121008322	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	2615452	121008322	13998194	213	58937											
OR6X1	390260	broad.mit.edu	37	chr11	123624329	123624329	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggcaagtcattgcctttcTtaaggctcccttcacctcct	7	14	3	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:123624329T>G	uc010rzy.1	-	1	898	c.898A>C	c.(898-900)AGA>CGA	p.R300R		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ATTGCCTTTCTTAAGGCTCCC	0.388													G	123624329	T	G	123624329	2	3	92	1	0	0	0	0	0	0	0	1	11212	1617	56	5		5	OR6X1	11	123624329	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	2616007	123624329	11382187	214	58938											
OR10G4	390264	broad.mit.edu	37	chr11	123886648	123886648	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtcctatgatcgctacTtggccatcagttacccgctc	7	14	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:123886648T>G	uc010sac.1	+	1	367	c.367T>G	c.(367-369)TTG>GTG	p.L123V		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G,	123	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGATCGCTACTTGGCCATCAG	0.567													G	123886648	T	G	123886648	3	3	92	1	0	0	0	0	1	0	0	0	10901	1606	56	5	369	5	OR10G4	11	123886648	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	262319	123886648	11119868	215	58939											
OR10G8	219869	broad.mit.edu	37	chr11	123900631	123900631	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcatggctcagctctAtttctttcacttcctagggg	9	12	4	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:123900631A>C	uc001pzp.1	+	1	302	c.302A>C	c.(301-303)TAT>TCT	p.Y101S		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	101	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCTCAGCTCTATTTCTTTCAC	0.537													C	123900631	A	C	123900631	3	2	92	1	0	0	0	0	1	0	0	0	10903	449	16	5	304	5	OR10G8	11	123900631	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	13983	123900631	11105885	216	58940											
VWA5A	4013	broad.mit.edu	37	chr11	124007748	124007748	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattcaccgccttgctgccaAgtccttgctccagaccaagg	8	16	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:124007748A>G	uc001pzu.2	+	15	1861	c.1652A>G	c.(1651-1653)AAG>AGG	p.K551R	VWA5A_uc001pzt.2_Missense_Mutation_p.K551R	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	551										upper_aerodigestive_tract(1)|ovary(1)	2						CTTGCTGCCAAGTCCTTGCTC	0.458													G	124007748	A	G	124007748	3	3	92	1	0	0	0	0	1	0	0	0	17239	72	3	3	1706	3	VWA5A	11	124007748	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	107117	124007748	10998768	217	58941											
PZP	5858	broad.mit.edu	37	chr12	9303324	9303324	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaaccatgaaggaaaaacTtagcgtctgatttgtcacct	8	9	2	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:9303324T>G	uc001qvl.2	-	34	4329	c.4300A>C	c.(4300-4302)AGT>CGT	p.S1434R	PZP_uc009zgl.2_Missense_Mutation_p.S1220R	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						AAGGAAAAACTTAGCGTCTGA	0.383													G	9303324	T	G	9303324	3	3	92	1	0	0	0	0	1	0	0	0	12869	1609	56	5	160	5	PZP	12	9303324	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08		9303324	124548571	218	58942											
CLEC2B	9976	broad.mit.edu	37	chr12	10005931	10005931	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgcaaatccattttcTttcggtgtaacatctagctg	6	10	2	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:10005931T>G	uc001qwn.2	-	5	1075	c.418A>C	c.(418-420)AGA>CGA	p.R140R		NM_005127	NP_005118	Q92478	CLC2B_HUMAN	C-type lectin, superfamily member 2	140	C-type lectin.|Extracellular (Potential).					integral to plasma membrane	sugar binding				0						ATCCATTTTCTTTCGGTGTAA	0.378													G	10005931	T	G	10005931	2	3	92	1	0	0	0	0	0	0	0	1	3507	1617	56	5		5	CLEC2B	12	10005931	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	702607	10005931	123845964	219	58943											
SLCO1B1	10599	broad.mit.edu	37	chr12	21392083	21392083	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttaaataaaaataaacattTtgtcccttctgctggggcag	7	8	1	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:21392083T>G	uc001req.3	+	15	2140	c.2036T>G	c.(2035-2037)TTT>TGT	p.F679C		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	679	Cytoplasmic (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	AATAAACATTTTGTCCCTTCT	0.358													G	21392083	T	G	21392083	3	3	92	1	0	0	0	0	1	0	0	0	14723	1841	64	5	2090	5	SLCO1B1	12	21392083	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	11386152	21392083	112459812	220	58944											
KCNJ8	3764	broad.mit.edu	37	chr12	21919240	21919240	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggtgtagttgttttcTtgaccacctggatgcgcaca	10	10	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:21919240T>G	uc001rff.2	-	3	1030	c.692A>C	c.(691-693)AAG>ACG	p.K231T		NM_004982	NP_004973	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel J8	231	Cytoplasmic (By similarity).					voltage-gated potassium channel complex					0					Levosimendan(DB00922)	AGTTGTTTTCTTGACCACCTG	0.493													G	21919240	T	G	21919240	3	3	92	1	0	0	0	0	1	0	0	0	8056	1609	56	5	586	5	KCNJ8	12	21919240	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	527157	21919240	111932655	221	58945											
ABCC9	10060	broad.mit.edu	37	chr12	22025656	22025656	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacttggcccacaatcatggTtaactgacctaggaaagcaa	8	10	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:22025656T>G	uc001rfi.1	-	16	2121	c.2101A>C	c.(2101-2103)ACC>CCC	p.T701P	ABCC9_uc001rfh.2_Missense_Mutation_p.T701P|ABCC9_uc001rfj.1_Missense_Mutation_p.T665P	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	701	Cytoplasmic (Potential).|ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACAATCATGGTTAACTGACCT	0.403													G	22025656	T	G	22025656	3	3	92	1	0	0	0	0	1	0	0	0	59	1725	60	5	2782	5	ABCC9	12	22025656	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	106416	22025656	111826239	222	58946											
OVCH1	341350	broad.mit.edu	37	chr12	29608191	29608191	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacaatttaccattgatttTtgattggatccagtccaaga	6	7	0	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:29608191T>C	uc001rix.1	-	20	2428	c.2428A>G	c.(2428-2430)AAA>GAA	p.K810E		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	810	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCATTGATTTTTGATTGGATC	0.413													C	29608191	T	C	29608191	3	2	92	1	0	0	0	0	1	0	0	0	11323	1850	64	3	1012	3	OVCH1	12	29608191	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	7582535	29608191	104243704	223	58947											
LRRK2	120892	broad.mit.edu	37	chr12	40668743	40668743	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggacatctgctggcaaaaaTtctggtttccagcttatacc	8	10	2	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:40668743T>G	uc001rmg.3	+	16	2010	c.1889T>G	c.(1888-1890)ATT>AGT	p.I630S	LRRK2_uc001rmh.1_Missense_Mutation_p.I252S	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	630					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTGGCAAAAATTCTGGTTTCC	0.353													G	40668743	T	G	40668743	3	3	92	1	0	0	0	0	1	0	0	0	9033	1493	52	5	1951	5	LRRK2	12	40668743	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	11060552	40668743	93183152	224	58948											
LRRK2	120892	broad.mit.edu	37	chr12	40740625	40740625	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgatgtttattcatttggTttactactctatgacatttt	6	6	2	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:40740625T>G	uc001rmg.3	+	42	6301	c.6180T>G	c.(6178-6180)GGT>GGG	p.G2060G	LRRK2_uc009zjw.2_Silent_p.G898G|LRRK2_uc001rmi.2_Silent_p.G893G	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2060	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATTCATTTGGTTTACTACTCT	0.338													G	40740625	T	G	40740625	2	3	92	1	0	0	0	0	0	0	0	1	9033	1712	60	5		5	LRRK2	12	40740625	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	71882	40740625	93111270	225	58949											
ADAMTS20	80070	broad.mit.edu	37	chr12	43860519	43860519	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggactcatgtgaaaacTtaaagcaggggccattacat	9	9	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:43860519T>G	uc010skx.1	-	9	1303	c.1303A>C	c.(1303-1305)AGT>CGT	p.S435R		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	435	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATGTGAAAACTTAAAGCAGGG	0.308													G	43860519	T	G	43860519	3	3	92	1	0	0	0	0	1	0	0	0	266	1609	56	5	4552	5	ADAMTS20	12	43860519	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	3119894	43860519	89991376	226	58950											
MAP3K12	7786	broad.mit.edu	37	chr12	53878136	53878136	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggaatgatgggcgatttcGtggtttgctattcctgaaag	13	6	0	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:53878136G>A	uc001sdm.1	-	8	1152	c.1054C>T	c.(1054-1056)CGA>TGA	p.R352*	MAP3K12_uc001sdn.1_Nonsense_Mutation_p.R385*	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	352	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						GGGCGATTTCGTGGTTTGCTA	0.458													A	53878136	G	A	53878136	4	1	92	1	0	0	0	0	0	1	0	0	9246	1153	40	1	1557	1	MAP3K12	12	53878136	Nonsense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	10017617	53878136	79973759	227	58951											
OR6C3	254786	broad.mit.edu	37	chr12	55725759	55725759	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaataagactatttcctataAcaactgtgcagcccaactct	5	11	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:55725759A>C	uc010spj.1	+	1	275	c.275A>C	c.(274-276)AAC>ACC	p.N92T		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C,	92	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						ATTTCCTATAACAACTGTGCA	0.413													C	55725759	A	C	55725759	3	2	92	1	0	0	0	0	1	0	0	0	11192	43	2	5	277	5	OR6C3	12	55725759	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	1847623	55725759	78126136	228	58952											
LRIG3	121227	broad.mit.edu	37	chr12	59307779	59307779	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacaaggagagaagtgtaaTatttgccgagactggtccca	11	7	0	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:59307779T>C	uc001sqr.2	-	3	613	c.367A>G	c.(367-369)ATT>GTT	p.I123V	LRIG3_uc009zqh.2_Missense_Mutation_p.I63V|LRIG3_uc010ssh.1_RNA	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	123	LRR 3.					integral to membrane				skin(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;1.17e-18)			AGAAGTGTAATATTTGCCGAG	0.383													C	59307779	T	C	59307779	3	2	92	1	0	0	0	0	1	0	0	0	8946	1406	49	3	3060	3	LRIG3	12	59307779	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	3582020	59307779	74544116	229	58953											
TRHDE	29953	broad.mit.edu	37	chr12	72969051	72969051	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagagcaccacagaataacTtatttggacaaaggaagctg	9	8	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:72969051T>C	uc001sxa.2	+	11	2043	c.2013T>C	c.(2011-2013)ACT>ACC	p.T671T		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	671	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						ACAGAATAACTTATTTGGACA	0.338													C	72969051	T	C	72969051	2	2	92	1	0	0	0	0	0	0	0	1	16476	1596	56	3		3	TRHDE	12	72969051	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	13661272	72969051	60882844	230	58954											
KCNC2	3747	broad.mit.edu	37	chr12	75444468	75444468	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggggtacatatccccataAcccagggtagtcatggtcac	11	11	2	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:75444468A>G	uc001sxg.1	-	3	1861	c.1317T>C	c.(1315-1317)GGT>GGC	p.G439G	KCNC2_uc009zry.2_Silent_p.G439G|KCNC2_uc001sxe.2_Silent_p.G439G|KCNC2_uc001sxf.2_Silent_p.G439G|KCNC2_uc010stw.1_Silent_p.G439G	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	439	Selectivity filter (By similarity).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						TATCCCCATAACCCAGGGTAG	0.537													G	75444468	A	G	75444468	2	3	92	1	0	0	0	0	0	0	0	1	8015	30	2	3		3	KCNC2	12	75444468	Silent	SNP	A	TCGA-BR-8485-01A-11D-2394-08	2475417	75444468	58407427	231	58955											
E2F7	144455	broad.mit.edu	37	chr12	77438527	77438527	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaggaacagcatgacaaacTtctggctcataattctcaga	8	10	3	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:77438527T>G	uc001sym.3	-	6	1114	c.878A>C	c.(877-879)AAG>ACG	p.K293T		NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	293	Potential.				cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						CATGACAAACTTCTGGCTCAT	0.398													G	77438527	T	G	77438527	3	3	92	1	0	0	0	0	1	0	0	0	4872	1609	56	5	1889	5	E2F7	12	77438527	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	1994059	77438527	56413368	232	58956											
SYT1	6857	broad.mit.edu	37	chr12	79747354	79747354	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtaagctgactgttgtcattCtggaggcaaagaacctgaag	12	7	2	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:79747354C>A	uc001sys.2	+	10	1554	c.883C>A	c.(883-885)CTG>ATG	p.L295M	SYT1_uc001syt.2_Missense_Mutation_p.L295M|SYT1_uc001syu.2_Missense_Mutation_p.L292M|SYT1_uc001syv.2_Missense_Mutation_p.L295M	NM_001135805	NP_001129277	P21579	SYT1_HUMAN	synaptotagmin I	295	Cytoplasmic (Potential).|Phospholipid binding (Probable).|C2 2.				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			skin(3)|pancreas(2)|ovary(1)	6						TGTTGTCATTCTGGAGGCAAA	0.428													A	79747354	C	A	79747354	3	1	92	1	0	0	0	0	1	0	0	0	15462	912	32	5	905	5	SYT1	12	79747354	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	2308827	79747354	54104541	233	58957											
LIN7A	8825	broad.mit.edu	37	chr12	81283099	81283099	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtagcttgtgcactggtacTtctccagattcctgtagttt	9	9	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:81283099T>G	uc001szj.1	-	2	325	c.132A>C	c.(130-132)GAA>GAC	p.E44D	LIN7A_uc001szk.1_RNA	NM_004664	NP_004655	O14910	LIN7A_HUMAN	lin-7 homolog A	44	L27.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			ovary(1)|skin(1)	2						GCACTGGTACTTCTCCAGATT	0.333													G	81283099	T	G	81283099	3	3	92	1	0	0	0	0	1	0	0	0	8810	1606	56	5	585	5	LIN7A	12	81283099	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	1535745	81283099	52568796	234	58958											
PPFIA2	8499	broad.mit.edu	37	chr12	81741391	81741391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttgagtgtccactggggGgagatgaactggccagcgat	17	7	0	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:81741391G>A	uc001szo.1	-	18	2314	c.2153C>T	c.(2152-2154)CCC>CTC	p.P718L	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_Intron	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	644										ovary(3)|lung(2)|pancreas(1)	6						TCCACTGGGGGGAGATGAACT	0.557													A	81741391	G	A	81741391	3	1	92	1	0	0	0	0	1	0	0	0	12310	1232	43	4	1680	4	PPFIA2	12	81741391	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	458292	81741391	52110504	235	58959											
LRRIQ1	84125	broad.mit.edu	37	chr12	85626509	85626509	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagttagatccagatgtacTtaatggtggaagagttcagc	12	5	1	4			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:85626509T>G	uc001tac.2	+	26	5102	c.4991T>G	c.(4990-4992)CTT>CGT	p.L1664R		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1664										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		CCAGATGTACTTAATGGTGGA	0.328													G	85626509	T	G	85626509	3	3	92	1	0	0	0	0	1	0	0	0	9029	1609	56	5	5093	5	LRRIQ1	12	85626509	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	3885118	85626509	48225386	236	58960											
MGAT4C	25834	broad.mit.edu	37	chr12	86383276	86383276	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgttttctcaggcatctcaTtttatcaagtatttcaaaaa	4	8	4	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:86383276T>C	uc001tai.3	-	6	1299	c.49A>G	c.(49-51)ATG>GTG	p.M17V	MGAT4C_uc001tal.3_Missense_Mutation_p.M17V|MGAT4C_uc001taj.3_Missense_Mutation_p.M17V|MGAT4C_uc001tak.3_Missense_Mutation_p.M17V|MGAT4C_uc010sum.1_Missense_Mutation_p.M41V|MGAT4C_uc001tah.3_Missense_Mutation_p.M17V	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	17	Cytoplasmic (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(3)	3						AGGCATCTCATTTTATCAAGT	0.328													C	86383276	T	C	86383276	3	2	92	1	0	0	0	0	1	0	0	0	9547	1493	52	3	1399	3	MGAT4C	12	86383276	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	756767	86383276	47468619	237	58961											
RFX4	5992	broad.mit.edu	37	chr12	107141233	107141233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcaatgcagtcttacaCgtggtctctaacatacacag	9	10	2	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:107141233C>T	uc001tlr.2	+	16	1718	c.1652C>T	c.(1651-1653)ACG>ATG	p.T551M	RFX4_uc001tlt.2_Missense_Mutation_p.T560M|RFX4_uc001tlv.2_Missense_Mutation_p.T457M	NM_213594	NP_998759	Q33E94	RFX4_HUMAN	regulatory factor X4 isoform c	551					transcription, DNA-dependent	nucleus	DNA binding			upper_aerodigestive_tract(1)	1						CAGTCTTACACGTGGTCTCTA	0.438													T	107141233	C	T	107141233	3	4	92	1	0	0	0	0	1	0	0	0	13265	536	19	1	1919	1	RFX4	12	107141233	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	20757957	107141233	26710662	238	58962											
ATXN2	6311	broad.mit.edu	37	chr12	111957774	111957774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctatcatcattttccagggCcactcgagctttgtactggg	9	12	2	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:111957774C>T	uc001tsj.2	-	8	1537	c.1375G>A	c.(1375-1377)GCC>ACC	p.A459T	ATXN2_uc001tsh.2_Missense_Mutation_p.A194T|ATXN2_uc001tsi.2_Missense_Mutation_p.A170T|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Missense_Mutation_p.A194T	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	459					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						TTTTCCAGGGCCACTCGAGCT	0.413													T	111957774	C	T	111957774	3	4	92	1	0	0	0	0	1	0	0	0	1211	739	26	2	2638	2	ATXN2	12	111957774	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	4816541	111957774	21894121	239	58963											
PRKAB1	5564	broad.mit.edu	37	chr12	120106129	120106129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggagggacagctcgggggGcaccaaggacggggacaggc	20	11	0	0	rs61748075	byFrequency	TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:120106129G>A	uc009zwu.2	+	2	183	c.80G>A	c.(79-81)GGC>GAC	p.G27D	PRKAB1_uc001txg.2_Missense_Mutation_p.G27D	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN	AMP-activated protein kinase beta 1	27					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol					0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	AGCTCGGGGGGCACCAAGGAC	0.662													A	120106129	G	A	120106129	3	1	92	1	0	0	0	0	1	0	0	0	12495	1203	42	2	82	2	PRKAB1	12	120106129	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	8148355	120106129	13745766	240	58964											
TMEM132B	114795	broad.mit.edu	37	chr12	126138479	126138479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagtaattccatagagcgCgaaggaaaccaggagagagc	12	9	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:126138479C>T	uc001uhe.1	+	9	2468	c.2460C>T	c.(2458-2460)CGC>CGT	p.R820R	TMEM132B_uc001uhf.1_Silent_p.R332R	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	820	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCATAGAGCGCGAAGGAAACC	0.493													T	126138479	C	T	126138479	2	4	92	1	0	0	0	0	0	0	0	1	16043	755	27	1		1	TMEM132B	12	126138479	Silent	SNP	C	TCGA-BR-8485-01A-11D-2394-08	6032350	126138479	7713416	241	58965											
TMEM132B	114795	broad.mit.edu	37	chr12	126139242	126139242	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagactatatggaaagtctgCaagaccagatgtaaactcct	9	8	1	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:126139242C>G	uc001uhe.1	+	9	3231	c.3223C>G	c.(3223-3225)CAA>GAA	p.Q1075E	TMEM132B_uc001uhf.1_Missense_Mutation_p.Q587E	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1075	Cytoplasmic (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGAAAGTCTGCAAGACCAGAT	0.428													G	126139242	C	G	126139242	3	3	92	1	0	0	0	0	1	0	0	0	16043	711	25	5	3257	5	TMEM132B	12	126139242	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	763	126139242	7712653	242	58966											
MMP17	4326	broad.mit.edu	37	chr12	132325352	132325352	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggccaccaccacaccgcCggggacacccactttgacga	9	20	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:132325352C>T	uc001ujc.1	+	4	756	c.657C>T	c.(655-657)GCC>GCT	p.A219A	MMP17_uc001ujd.1_Silent_p.A135A	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	219					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		ACCACACCGCCGGGGACACCC	0.692													T	132325352	C	T	132325352	2	4	92	1	0	0	0	0	0	0	0	1	9656	639	23	1		1	MMP17	12	132325352	Silent	SNP	C	TCGA-BR-8485-01A-11D-2394-08	6186110	132325352	1526543	243	58967											
SHISA2	387914	broad.mit.edu	37	chr13	26620785	26620785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcacagagtcgtgctgcaCcgtgtaccccacgtatgggg	15	12	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr13:26620785C>T	uc001uqm.1	-	2	839	c.754G>A	c.(754-756)GTG>ATG	p.V252M		NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN	shisa homolog 2 precursor	252	Cytoplasmic (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2						TCGTGCTGCACCGTGTACCCC	0.577													T	26620785	C	T	26620785	3	4	92	1	0	0	0	0	1	0	0	0	14280	507	18	4	137	4	SHISA2	13	26620785	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08		26620785	88549093	244	58968											
SOHLH2	54937	broad.mit.edu	37	chr13	36776025	36776025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagtttacctaattaacTtgatggcttccagctcctcg	7	10	0	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr13:36776025T>C	uc001uvj.2	-	2	343	c.254A>G	c.(253-255)AAG>AGG	p.K85R	SOHLH2_uc010tei.1_Missense_Mutation_p.K162R	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	85					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CCTAATTAACTTGATGGCTTC	0.368													C	36776025	T	C	36776025	3	2	92	1	0	0	0	0	1	0	0	0	14924	1609	56	3	1063	3	SOHLH2	13	36776025	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	10155240	36776025	78393853	245	58969											
C13orf36	400120	broad.mit.edu	37	chr13	37269503	37269503	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttggaagtctgcagcatttcCtctcagaggtccactttttc	8	11	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr13:37269503C>G	uc001uvt.3	+	2	734	c.288C>G	c.(286-288)TCC>TCG	p.S96S		NM_203451	NP_982276	A2A2V5	CM036_HUMAN	hypothetical protein LOC400120	96						integral to membrane				skin(1)	1						GCAGCATTTCCTCTCAGAGGT	0.478													G	37269503	C	G	37269503	2	3	92	1	0	0	0	0	0	0	0	1	1730	668	24	5		5	C13orf36	13	37269503	Silent	SNP	C	TCGA-BR-8485-01A-11D-2394-08	493478	37269503	77900375	246	58970											
TRPC4	7223	broad.mit.edu	37	chr13	38211727	38211727	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcttagtaatcccaggacTtcaaagcggaaactagaaat	7	10	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr13:38211727T>G	uc001uws.2	-	11	2482	c.2247A>C	c.(2245-2247)GAA>GAC	p.E749D	TRPC4_uc010abv.2_Missense_Mutation_p.E329D|TRPC4_uc001uwt.2_Missense_Mutation_p.E749D|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Missense_Mutation_p.E576D|TRPC4_uc010abx.2_Missense_Mutation_p.E754D|TRPC4_uc010aby.2_Missense_Mutation_p.E684D	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	749	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATCCCAGGACTTCAAAGCGGA	0.368													G	38211727	T	G	38211727	3	3	92	1	0	0	0	0	1	0	0	0	16577	1606	56	5	690	5	TRPC4	13	38211727	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	942224	38211727	76958151	247	58971											
TRPC4	7223	broad.mit.edu	37	chr13	38229328	38229328	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatggtggcaccaacaaacTcagtaaattcatgctgtgct	8	10	2	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr13:38229328T>C	uc001uws.2	-	7	2016	c.1781A>G	c.(1780-1782)GAG>GGG	p.E594G	TRPC4_uc010abv.2_Missense_Mutation_p.E174G|TRPC4_uc001uwt.2_Missense_Mutation_p.E594G|TRPC4_uc010tey.1_Missense_Mutation_p.E594G|TRPC4_uc010abw.2_Missense_Mutation_p.E421G|TRPC4_uc010abx.2_Missense_Mutation_p.E594G|TRPC4_uc010aby.2_Missense_Mutation_p.E594G	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	594	Extracellular (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ACCAACAAACTCAGTAAATTC	0.368													C	38229328	T	C	38229328	3	2	92	1	0	0	0	0	1	0	0	0	16577	1551	54	3	1187	3	TRPC4	13	38229328	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	17601	38229328	76940550	248	58972											
FREM2	341640	broad.mit.edu	37	chr13	39262883	39262883	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcagtggtccgcaaaacTtggtcatcagcgatgaggat	13	9	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr13:39262883T>C	uc001uwv.2	+	1	1711	c.1402T>C	c.(1402-1404)TTG>CTG	p.L468L		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	468	Extracellular (Potential).|CSPG 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCCGCAAAACTTGGTCATCAG	0.587													C	39262883	T	C	39262883	2	2	92	1	0	0	0	0	0	0	0	1	6045	1606	56	3		3	FREM2	13	39262883	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	1033555	39262883	75906995	249	58973											
KLHL1	57626	broad.mit.edu	37	chr13	70314643	70314643	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattcagatagctccagccaTcatggcctcccacagcataa	6	14	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr13:70314643T>G	uc001vip.2	-	8	2479	c.1685A>C	c.(1684-1686)GAT>GCT	p.D562A	KLHL1_uc010thm.1_Missense_Mutation_p.D501A	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	562	Kelch 3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCTCCAGCCATCATGGCCTCC	0.363													G	70314643	T	G	70314643	3	3	92	1	0	0	0	0	1	0	0	0	8365	1435	50	5	577	5	KLHL1	13	70314643	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	31051760	70314643	44855235	250	58974											
TBC1D4	9882	broad.mit.edu	37	chr13	75936660	75936660	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctgagagttgtaaaaggcGtcctcattatctttgctggg	11	7	3	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr13:75936660G>T	uc001vjl.1	-	2	929	c.582C>A	c.(580-582)GAC>GAA	p.D194E	TBC1D4_uc010aer.2_Missense_Mutation_p.D194E|TBC1D4_uc010aes.2_Missense_Mutation_p.D194E	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	194	PID 1.					cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TGTAAAAGGCGTCCTCATTAT	0.468													T	75936660	G	T	75936660	3	4	92	1	0	0	0	0	1	0	0	0	15619	1136	40	5	3394	5	TBC1D4	13	75936660	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	5622017	75936660	39233218	251	58975											
DZIP1	22873	broad.mit.edu	37	chr13	96237108	96237108	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagatttttttcccaaAgatatctcttcctctaggga	5	11	2	2	rs140431438		TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr13:96237108A>G	uc001vmk.2	-	22	3258	c.2406T>C	c.(2404-2406)TCT>TCC	p.S802S	DZIP1_uc001vmi.2_Silent_p.S50S|DZIP1_uc001vmj.2_Silent_p.S278S|DZIP1_uc001vml.2_Silent_p.S783S|DZIP1_uc001vmm.2_5'Flank	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	802					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTTTTCCCAAAGATATCTCTT	0.408													G	96237108	A	G	96237108	2	3	92	1	0	0	0	0	0	0	0	1	4863	59	3	3		3	DZIP1	13	96237108	Silent	SNP	A	TCGA-BR-8485-01A-11D-2394-08	20300448	96237108	18932770	252	58976											
STK24	8428	broad.mit.edu	37	chr13	99114041	99114041	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgtaccttatttctgtccAagtccgatggctgaagagct	10	10	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr13:99114041A>C	uc001vnm.1	-	8	1311	c.1076T>G	c.(1075-1077)TTG>TGG	p.L359W	STK24_uc001vnn.1_Missense_Mutation_p.L347W|STK24_uc010tim.1_Missense_Mutation_p.L328W	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24 isoform a	359					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ATTTCTGTCCAAGTCCGATGG	0.537													C	99114041	A	C	99114041	3	2	92	1	0	0	0	0	1	0	0	0	15292	131	5	5	271	5	STK24	13	99114041	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	2876933	99114041	16055837	253	58977											
OR4N2	390429	broad.mit.edu	37	chr14	20295735	20295735	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcatcctccctggaaattTtctcattattttcaccataa	2	12	3	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr14:20295735T>G	uc010tkv.1	+	1	128	c.128T>G	c.(127-129)TTT>TGT	p.F43C		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTGGAAATTTTCTCATTATT	0.443													G	20295735	T	G	20295735	3	3	92	1	0	0	0	0	1	0	0	0	11077	1841	64	5	130	5	OR4N2	14	20295735	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08		20295735	87053805	254	58978											
MYH6	4624	broad.mit.edu	37	chr14	23869976	23869976	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtactggcgtggctgcTtggtctccagggtggcgttg	17	8	1	1	rs112494241		TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr14:23869976T>A	uc001wjv.2	-	13	1419	c.1352A>T	c.(1351-1353)AAG>ATG	p.K451M	MYH6_uc010akp.1_Missense_Mutation_p.K451M	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	451	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCGTGGCTGCTTGGTCTCCAG	0.567													A	23869976	T	A	23869976	3	1	92	1	0	0	0	0	1	0	0	0	10038	1609	56	5	4575	5	MYH6	14	23869976	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	3574241	23869976	83479564	255	58979											
LRFN5	145581	broad.mit.edu	37	chr14	42356513	42356513	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcaacctcaggaatcataAgcccatctacttttgcatta	5	11	3	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr14:42356513A>G	uc001wvm.2	+	3	1883	c.685A>G	c.(685-687)AGC>GGC	p.S229G	LRFN5_uc010ana.2_Missense_Mutation_p.S229G	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	229	Extracellular (Potential).					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGGAATCATAAGCCCATCTAC	0.443										HNSCC(30;0.082)			G	42356513	A	G	42356513	3	3	92	1	0	0	0	0	1	0	0	0	8941	72	3	3	687	3	LRFN5	14	42356513	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	18486537	42356513	64993027	256	58980											
SLC8A3	6547	broad.mit.edu	37	chr14	70634007	70634007	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctcatgctggaggccttcTtggcttgttctgctgcatgt	12	11	3	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr14:70634007T>G	uc001xly.2	-	2	1887	c.1133A>C	c.(1132-1134)AAG>ACG	p.K378T	SLC8A3_uc001xlw.2_Missense_Mutation_p.K378T|SLC8A3_uc001xlx.2_Missense_Mutation_p.K378T|SLC8A3_uc001xlz.2_Missense_Mutation_p.K378T|SLC8A3_uc010ara.2_RNA	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	378	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGAGGCCTTCTTGGCTTGTTC	0.512													G	70634007	T	G	70634007	3	3	92	1	0	0	0	0	1	0	0	0	14708	1609	56	5	1789	5	SLC8A3	14	70634007	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	28277494	70634007	36715533	257	58981											
SERPINA10	51156	broad.mit.edu	37	chr14	94754773	94754773	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacatgacaacgaaaattcTtgtcaaaggtggaggcaaac	11	7	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr14:94754773T>G	uc001yct.2	-	3	1308	c.842A>C	c.(841-843)AAG>ACG	p.K281T	SERPINA10_uc001ycu.3_Missense_Mutation_p.K281T	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	serine (or cysteine) proteinase inhibitor, clade	281					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		ACGAAAATTCTTGTCAAAGGT	0.507													G	94754773	T	G	94754773	3	3	92	1	0	0	0	0	1	0	0	0	14087	1609	56	5	504	5	SERPINA10	14	94754773	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	24120766	94754773	12594767	258	58982											
SERPINA9	327657	broad.mit.edu	37	chr14	94933607	94933607	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctctgtatccaccccaaaAgcgaactgctctttctggtg	8	13	3	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr14:94933607A>C	uc001ydf.2	-	3	956	c.795T>G	c.(793-795)GCT>GCG	p.A265A	SERPINA9_uc001yde.2_Silent_p.A165A|SERPINA9_uc010avc.2_Silent_p.A116A|SERPINA9_uc001ydg.2_Silent_p.A229A|SERPINA9_uc001ydh.1_Silent_p.A265A|SERPINA9_uc001ydi.1_Silent_p.A229A	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	serine (or cysteine) proteinase inhibitor, clade	247					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			lung(1)|central_nervous_system(1)	2		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CCACCCCAAAAGCGAACTGCT	0.522													C	94933607	A	C	94933607	2	2	92	1	0	0	0	0	0	0	0	1	14095	59	3	5		5	SERPINA9	14	94933607	Silent	SNP	A	TCGA-BR-8485-01A-11D-2394-08	178834	94933607	12415933	259	58983											
RYR3	6263	broad.mit.edu	37	chr15	33928718	33928718	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgatcaccaacaaaggctctGaacttgccttcgctgactac	7	13	2	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr15:33928718G>A	uc001zhi.2	+	27	3593	c.3523G>A	c.(3523-3525)GAA>AAA	p.E1175K	RYR3_uc010bar.2_Missense_Mutation_p.E1175K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1175	B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAAAGGCTCTGAACTTGCCTT	0.502													A	33928718	G	A	33928718	3	1	92	1	0	0	0	0	1	0	0	0	13770	1291	45	4	3629	4	RYR3	15	33928718	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08		33928718	68602674	260	58984											
EIF2AK4	440275	broad.mit.edu	37	chr15	40258023	40258023	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accagtcaagaaaaagagaaGattgataagtgcaaaaagca	9	5	1	4			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr15:40258023G>A	uc001zkm.1	+	8	1046	c.996G>A	c.(994-996)AAG>AAA	p.K332K	EIF2AK4_uc001zkl.2_Silent_p.K332K|EIF2AK4_uc010bbj.1_Silent_p.K61K	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	332	Protein kinase 1.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AAAAAGAGAAGATTGATAAGT	0.443													A	40258023	G	A	40258023	2	1	92	1	0	0	0	0	0	0	0	1	4999	933	33	4		4	EIF2AK4	15	40258023	Silent	SNP	G	TCGA-BR-8485-01A-11D-2394-08	6329305	40258023	62273369	261	58985											
SLC12A1	6557	broad.mit.edu	37	chr15	48533782	48533782	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactgttgcctacttaggggTtgcaatttgtgtaggtaagt	12	6	0	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr15:48533782T>C	uc001zwn.3	+	10	1502	c.1286T>C	c.(1285-1287)GTT>GCT	p.V429A	SLC12A1_uc010uew.1_Missense_Mutation_p.V235A|SLC12A1_uc010bem.2_Missense_Mutation_p.V429A|SLC12A1_uc001zwq.3_Missense_Mutation_p.V200A|SLC12A1_uc001zwr.3_Missense_Mutation_p.V156A	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	429	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TACTTAGGGGTTGCAATTTGT	0.448													C	48533782	T	C	48533782	3	2	92	1	0	0	0	0	1	0	0	0	14382	1725	60	3	1420	3	SLC12A1	15	48533782	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	8275759	48533782	53997610	262	58986											
SECISBP2L	9728	broad.mit.edu	37	chr15	49284561	49284561	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccatgcctcactgtccatCcctggctccagcacctcagg	8	18	2	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr15:49284561C>T	uc001zxe.1	-	18	3320	c.3186G>A	c.(3184-3186)GGG>GGA	p.G1062G	SECISBP2L_uc001zxd.1_Silent_p.G1017G	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	1062										breast(1)|skin(1)	2						CACTGTCCATCCCTGGCTCCA	0.527													T	49284561	C	T	49284561	2	4	92	1	0	0	0	0	0	0	0	1	14007	842	30	4		4	SECISBP2L	15	49284561	Silent	SNP	C	TCGA-BR-8485-01A-11D-2394-08	750779	49284561	53246831	263	58987											
UNC13C	440279	broad.mit.edu	37	chr15	54307854	54307854	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaccttatgaaaccccacaAgatgagggttatgatggtcc	9	10	0	4			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr15:54307854A>G	uc002ack.2	+	1	2754	c.2754A>G	c.(2752-2754)CAA>CAG	p.Q918Q		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	918					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAACCCCACAAGATGAGGGTT	0.378													G	54307854	A	G	54307854	2	3	92	1	0	0	0	0	0	0	0	1	16983	69	3	3		3	UNC13C	15	54307854	Silent	SNP	A	TCGA-BR-8485-01A-11D-2394-08	5023293	54307854	48223538	264	58988											
UNC13C	440279	broad.mit.edu	37	chr15	54435824	54435824	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcatttaaggctcgaaTagtaagtggcaatgatttgg	10	6	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr15:54435824T>C	uc002ack.2	+	3	3014	c.3014T>C	c.(3013-3015)ATA>ACA	p.I1005T		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1005					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGGCTCGAATAGTAAGTGGC	0.388													C	54435824	T	C	54435824	3	2	92	1	0	0	0	0	1	0	0	0	16983	1406	49	3	3024	3	UNC13C	15	54435824	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	127970	54435824	48095568	265	58989											
THSD4	79875	broad.mit.edu	37	chr15	72037465	72037465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcgcagtaccctattttcCgctgtgtgcacagaagcact	9	12	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr15:72037465C>T	uc002atb.1	+	11	2006	c.1927C>T	c.(1927-1929)CGC>TGC	p.R643C	THSD4_uc002ate.2_Missense_Mutation_p.R283C	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	643						proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						CCCTATTTTCCGCTGTGTGCA	0.542													T	72037465	C	T	72037465	3	4	92	1	0	0	0	0	1	0	0	0	15875	652	23	1	1969	1	THSD4	15	72037465	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	17601641	72037465	30493927	266	58990											
AGBL1	123624	broad.mit.edu	37	chr15	86807985	86807985	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctctgtggtggacttcaAgatgatggcatttcctgatg	12	8	2	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr15:86807985A>G	uc002blz.1	+	10	1525	c.1445A>G	c.(1444-1446)AAG>AGG	p.K482R	AGBL1_uc002bma.1_Missense_Mutation_p.K213R|AGBL1_uc002bmb.1_Missense_Mutation_p.K176R	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	482					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						GTGGACTTCAAGATGATGGCA	0.502													G	86807985	A	G	86807985	3	3	92	1	0	0	0	0	1	0	0	0	375	72	3	3	1479	3	AGBL1	15	86807985	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	14770520	86807985	15723407	267	58991											
SOX8	30812	broad.mit.edu	37	chr16	1034896	1034896	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacgccttcgacgtccacgAgttcgaccagtacctgcccc	10	17	0	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr16:1034896A>C	uc002ckn.2	+	3	966	c.851A>C	c.(850-852)GAG>GCG	p.E284A		NM_014587	NP_055402	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	284					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2		Hepatocellular(780;0.00308)				GACGTCCACGAGTTCGACCAG	0.701													C	1034896	A	C	1034896	3	2	92	1	0	0	0	0	1	0	0	0	14957	304	11	5	861	5	SOX8	16	1034896	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08		1034896	89319857	268	58992											
GRIN2A	2903	broad.mit.edu	37	chr16	9923493	9923493	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atagcttttccaattgtaaaAgaaggcccatggggtgctgc	11	8	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr16:9923493A>C	uc002czo.3	-	9	2342	c.1794T>G	c.(1792-1794)TCT>TCG	p.S598S	GRIN2A_uc010uym.1_Silent_p.S598S|GRIN2A_uc010uyn.1_Silent_p.S441S|GRIN2A_uc002czr.3_Silent_p.S598S	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	598	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S598F(1)		skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CAATTGTAAAAGAAGGCCCAT	0.463													C	9923493	A	C	9923493	2	2	92	1	0	0	0	0	0	0	0	1	6779	59	3	5		5	GRIN2A	16	9923493	Silent	SNP	A	TCGA-BR-8485-01A-11D-2394-08	8888597	9923493	80431260	269	58993											
TMC5	79838	broad.mit.edu	37	chr16	19451929	19451929	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccagaaagaatctggaacAtacaagttttagaatcaatc	6	7	2	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr16:19451929A>G	uc002dgc.3	+	3	1318	c.569A>G	c.(568-570)CAT>CGT	p.H190R	TMC5_uc010vaq.1_Missense_Mutation_p.H190R|TMC5_uc002dgb.3_Missense_Mutation_p.H190R|TMC5_uc010var.1_Missense_Mutation_p.H190R	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	190	Extracellular (Potential).					integral to membrane				skin(1)	1						AATCTGGAACATACAAGTTTT	0.488													G	19451929	A	G	19451929	3	3	92	1	0	0	0	0	1	0	0	0	15985	217	8	3	571	3	TMC5	16	19451929	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	9528436	19451929	70902824	270	58994											
TMC5	79838	broad.mit.edu	37	chr16	19451957	19451957	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttagaatcaatccatacgcAgactctctgggaaagcctga	8	10	2	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr16:19451957A>T	uc002dgc.3	+	3	1346	c.597A>T	c.(595-597)GCA>GCT	p.A199A	TMC5_uc010vaq.1_Silent_p.A199A|TMC5_uc002dgb.3_Silent_p.A199A|TMC5_uc010var.1_Silent_p.A199A	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	199	Extracellular (Potential).					integral to membrane				skin(1)	1						ATCCATACGCAGACTCTCTGG	0.473													T	19451957	A	T	19451957	2	4	92	1	0	0	0	0	0	0	0	1	15985	175	7	5		5	TMC5	16	19451957	Silent	SNP	A	TCGA-BR-8485-01A-11D-2394-08	28	19451957	70902796	271	58995											
DNAH3	55567	broad.mit.edu	37	chr16	20975134	20975134	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaacggcacacgttgttgtAgatgctcagggtgaaatggt	14	6	1	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr16:20975134A>G	uc010vbe.1	-	53	10072	c.10072T>C	c.(10072-10074)TAC>CAC	p.Y3358H	DNAH3_uc010vbd.1_Missense_Mutation_p.Y793H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3358					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		ACGTTGTTGTAGATGCTCAGG	0.463													G	20975134	A	G	20975134	3	3	92	1	0	0	0	0	1	0	0	0	4603	420	15	3	2317	3	DNAH3	16	20975134	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	1523177	20975134	69379619	272	58996											
ABCC12	94160	broad.mit.edu	37	chr16	48174824	48174824	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggaggatttggtgaatgAgaactgtctgtaaaacagca	13	5	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr16:48174824A>C	uc002efc.1	-	4	777	c.431T>G	c.(430-432)CTC>CGC	p.L144R	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.L144R|ABCC12_uc010vgj.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	144	ABC transmembrane type-1 1.|Helical; (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				TTGGTGAATGAGAACTGTCTG	0.522													C	48174824	A	C	48174824	3	2	92	1	0	0	0	0	1	0	0	0	52	304	11	5	3752	5	ABCC12	16	48174824	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	27199690	48174824	42179929	273	58997											
CNTNAP4	85445	broad.mit.edu	37	chr16	76523743	76523743	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgaacaggagtttacTtattactgcaagaagtcacg	9	8	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr16:76523743T>G	uc002feu.1	+	15	2428	c.2043T>G	c.(2041-2043)ACT>ACG	p.T681T	CNTNAP4_uc002fev.1_Silent_p.T545T|CNTNAP4_uc010chb.1_Silent_p.T608T|CNTNAP4_uc002fex.1_Silent_p.T684T|CNTNAP4_uc002few.2_Silent_p.T656T	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	681	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						AGGAGTTTACTTATTACTGCA	0.458													G	76523743	T	G	76523743	2	3	92	1	0	0	0	0	0	0	0	1	3649	1596	56	5		5	CNTNAP4	16	76523743	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	28348919	76523743	13831010	274	58998											
ADAMTS18	170692	broad.mit.edu	37	chr16	77397765	77397765	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacttccaatagtcccatcTttaaataggccagaaacctg	5	12	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr16:77397765T>G	uc002ffc.3	-	6	1409	c.990A>C	c.(988-990)AAA>AAC	p.K330N	ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_Missense_Mutation_p.K26N|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	330	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TAGTCCCATCTTTAAATAGGC	0.373													G	77397765	T	G	77397765	3	3	92	1	0	0	0	0	1	0	0	0	263	1606	56	5	2747	5	ADAMTS18	16	77397765	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	874022	77397765	12956988	275	58999											
SPIRE2	84501	broad.mit.edu	37	chr16	89922632	89922632	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccggtgcggggcgagggcTgggctgcccgcggtgagtga	22	11	0	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr16:89922632T>G	uc002foz.1	+	7	1142	c.1090T>G	c.(1090-1092)TGG>GGG	p.W364G	SPIRE2_uc010civ.1_Missense_Mutation_p.W279G|SPIRE2_uc010ciw.1_Missense_Mutation_p.W364G|SPIRE2_uc002fpa.1_Missense_Mutation_p.W316G|SPIRE2_uc010cix.1_Missense_Mutation_p.W231G	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	spire homolog 2	364					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)	1		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GGGCGAGGGCTGGGCTGCCCG	0.672													G	89922632	T	G	89922632	3	3	92	1	0	0	0	0	1	0	0	0	15071	1580	55	5	1116	5	SPIRE2	16	89922632	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	12524867	89922632	432121	276	59000											
SMTNL2	342527	broad.mit.edu	37	chr17	4497135	4497135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaagaattcctctttcaCgtggtctgtgccaagctctg	10	10	4	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr17:4497135C>T	uc002fyf.1	+	4	816	c.749C>T	c.(748-750)ACG>ATG	p.T250M	SMTNL2_uc002fye.2_Missense_Mutation_p.T106M	NM_001114974	NP_001108446	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2 isoform 1	250											0				READ - Rectum adenocarcinoma(115;0.0325)		TCCTCTTTCACGTGGTCTGTG	0.597													T	4497135	C	T	4497135	3	4	92	1	0	0	0	0	1	0	0	0	14816	536	19	1	763	1	SMTNL2	17	4497135	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08		4497135	76698075	277	59001											
CCDC42	146849	broad.mit.edu	37	chr17	8644934	8644934	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcatgtgctggcacttgAgttctcgctccttgttggct	11	12	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr17:8644934A>G	uc002gln.2	-	4	577	c.350T>C	c.(349-351)CTC>CCC	p.L117P	CCDC42_uc002glo.2_Missense_Mutation_p.L117P	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42 isoform 1	117	Potential.									ovary(1)	1						CTGGCACTTGAGTTCTCGCTC	0.637													G	8644934	A	G	8644934	3	3	92	1	0	0	0	0	1	0	0	0	2814	304	11	3	616	3	CCDC42	17	8644934	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	4147799	8644934	72550276	278	59002											
GLP2R	9340	broad.mit.edu	37	chr17	9739737	9739737	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacgtgtgttggcctcattcTtctcctggaaatgtctctgt	9	10	4	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr17:9739737T>G	uc002gmd.1	+	3	327	c.327T>G	c.(325-327)TCT>TCG	p.S109S	GLP2R_uc010cog.1_RNA	NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	109	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				lung(2)|ovary(1)	3					Glucagon recombinant(DB00040)	GGCCTCATTCTTCTCCTGGAA	0.418													G	9739737	T	G	9739737	2	3	92	1	0	0	0	0	0	0	0	1	6453	1596	56	5		5	GLP2R	17	9739737	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	1094803	9739737	71455473	279	59003											
MYH3	4621	broad.mit.edu	37	chr17	10542945	10542945	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaggtcatcaatgtcttTcttgagctctgagcattcat	7	10	7	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr17:10542945T>C	uc002gmq.1	-	22	2934	c.2857A>G	c.(2857-2859)AAA>GAA	p.K953E		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	953	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TCAATGTCTTTCTTGAGCTCT	0.473													C	10542945	T	C	10542945	3	2	92	1	0	0	0	0	1	0	0	0	10036	1792	62	3	3041	3	MYH3	17	10542945	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	803208	10542945	70652265	280	59004											
PMP22	5376	broad.mit.edu	37	chr17	15142792	15142792	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accatccacaacttaccagcAagaatttggaagattccagt	6	11	0	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr17:15142792A>C	uc002goj.2	-	3	364	c.315T>G	c.(313-315)CTT>CTG	p.L105L	PMP22_uc002gok.2_Silent_p.L105L|PMP22_uc002gol.2_Silent_p.L105L	NM_153322	NP_696997	Q01453	PMP22_HUMAN	peripheral myelin protein 22	105	Helical; (By similarity).		L -> R (in CMT1A and DSS).		peripheral nervous system development|synaptic transmission	integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		ACTTACCAGCAAGAATTTGGA	0.473													C	15142792	A	C	15142792	2	2	92	1	0	0	0	0	0	0	0	1	12139	117	5	5		5	PMP22	17	15142792	Silent	SNP	A	TCGA-BR-8485-01A-11D-2394-08	4599847	15142792	66052418	281	59005											
AARSD1	80755	broad.mit.edu	37	chr17	41122335	41122335	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atccatggcaggtggaggtcTcttggtgctgaccttcttca	12	10	3	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr17:41122335T>A	uc002icf.2	-	7	750	c.532A>T	c.(532-534)AGA>TGA	p.R178*	AARSD1_uc002icd.2_Nonsense_Mutation_p.R117*|AARSD1_uc002ice.2_Nonsense_Mutation_p.R87*|AARSD1_uc010whg.1_Nonsense_Mutation_p.R178*|AARSD1_uc002icg.2_RNA|AARSD1_uc002ich.2_Nonsense_Mutation_p.R140*|AARSD1_uc010whh.1_Nonsense_Mutation_p.R145*	NM_025267	NP_079543	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	Error:Variant_position_missing_in_Q9BTE6_after_alignment					alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding				0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GGTGGAGGTCTCTTGGTGCTG	0.443													A	41122335	T	A	41122335	4	1	92	1	0	0	0	0	0	1	0	0	21	1559	54	5	1319	5	AARSD1	17	41122335	Nonsense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	25979543	41122335	40072875	282	59006											
KIF2B	84643	broad.mit.edu	37	chr17	51902400	51902400	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actagctgacctccacgtgaAgagcaaggtagagtgaagcc	12	10	0	5			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr17:51902400A>G	uc002iua.2	+	1	2162	c.2006A>G	c.(2005-2007)AAG>AGG	p.K669R	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	669					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						CTCCACGTGAAGAGCAAGGTA	0.438													G	51902400	A	G	51902400	3	3	92	1	0	0	0	0	1	0	0	0	8298	72	3	3	2008	3	KIF2B	17	51902400	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	10780065	51902400	29292810	283	59007											
C17orf71	55181	broad.mit.edu	37	chr17	57290673	57290673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattcctggaaagagaagtgCggttgtaatgggaagaggaa	15	3	0	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr17:57290673C>T	uc002ixi.2	+	3	2531	c.2489C>T	c.(2488-2490)GCG>GTG	p.A830V		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	830					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					AAGAGAAGTGCGGTTGTAATG	0.478													T	57290673	C	T	57290673	3	4	92	1	0	0	0	0	1	0	0	0	1878	768	27	1	2499	1	C17orf71	17	57290673	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	5388273	57290673	23904537	284	59008											
EPB41L3	23136	broad.mit.edu	37	chr18	5406839	5406839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcggccagtcgcacgggGgaggtggaaagcctcttctc	16	12	2	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr18:5406839G>A	uc002kmt.1	-	16	2372	c.2286C>T	c.(2284-2286)TCC>TCT	p.S762S	EPB41L3_uc010wzh.1_Silent_p.S593S|EPB41L3_uc002kmu.1_Silent_p.S581S|EPB41L3_uc010dkq.1_Silent_p.S472S|EPB41L3_uc002kms.1_Silent_p.S34S|EPB41L3_uc010wze.1_Silent_p.S34S|EPB41L3_uc010wzf.1_Silent_p.S34S|EPB41L3_uc010wzg.1_Silent_p.S34S|EPB41L3_uc010dkr.2_Silent_p.S154S	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	762	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GTCGCACGGGGGAGGTGGAAA	0.512													A	5406839	G	A	5406839	2	1	92	1	0	0	0	0	0	0	0	1	5154	1219	43	4		4	EPB41L3	18	5406839	Silent	SNP	G	TCGA-BR-8485-01A-11D-2394-08		5406839	72670409	285	59009											
L3MBTL4	91133	broad.mit.edu	37	chr18	5969416	5969416	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccacagtccaacgtgccacTtggctggcccggatgtcagc	11	15	1	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr18:5969416T>C	uc002kmz.3	-	18	1777	c.1617A>G	c.(1615-1617)CAA>CAG	p.Q539Q	L3MBTL4_uc010dkt.2_Silent_p.Q539Q|L3MBTL4_uc002kmy.3_Silent_p.Q368Q	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4	539					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)				AACGTGCCACTTGGCTGGCCC	0.637													C	5969416	T	C	5969416	2	2	92	1	0	0	0	0	0	0	0	1	8594	1606	56	3		3	L3MBTL4	18	5969416	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	562577	5969416	72107832	286	59010											
ARHGAP28	79822	broad.mit.edu	37	chr18	6870702	6870702	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaataaacttaagaaatcaGagattaagaaagaagactat	7	3	1	5			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr18:6870702G>A	uc010wzi.1	+	6	632	c.394G>A	c.(394-396)GAG>AAG	p.E132K	ARHGAP28_uc002knc.2_Missense_Mutation_p.E257K|ARHGAP28_uc002knd.2_Missense_Mutation_p.E150K|ARHGAP28_uc002kne.2_Missense_Mutation_p.E150K|ARHGAP28_uc002knf.2_Missense_Mutation_p.E141K			B4DXL2	B4DXL2_HUMAN	SubName: Full=Putative uncharacterized protein ARHGAP28;	132					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)				TAAGAAATCAGAGATTAAGAA	0.338													A	6870702	G	A	6870702	3	1	92	1	0	0	0	0	1	0	0	0	877	943	33	4	466	4	ARHGAP28	18	6870702	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	901286	6870702	71206546	287	59011											
LAMA3	3909	broad.mit.edu	37	chr18	21526174	21526174	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgagggcccgggagggaAgtttgcctggaaactccacc	15	11	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr18:21526174A>C	uc002kuq.2	+	70	9363	c.9277A>C	c.(9277-9279)AGT>CGT	p.S3093R	LAMA3_uc002kur.2_Missense_Mutation_p.S3037R|LAMA3_uc002kus.3_Missense_Mutation_p.S1484R|LAMA3_uc002kut.3_Missense_Mutation_p.S1428R	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	3093	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCGGGAGGGAAGTTTGCCTGG	0.502													C	21526174	A	C	21526174	3	2	92	1	0	0	0	0	1	0	0	0	8607	72	3	5	9730	5	LAMA3	18	21526174	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	14655472	21526174	56551074	288	59012											
B4GALT6	9331	broad.mit.edu	37	chr18	29218671	29218671	+	Frame_Shift_Del	DEL	A	A	-													gcattggaatcagatgtaagAaaaaaattggaagatgttca							TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr18:29218670_29218670GA>G	uc002kwz.4	-	4	822	c.525_525TC>C	c.(523-525)ttcfs	p.F175fs	B4GALT6_uc010dma.3_Frame_Shift_Del_p.F136fs|B4GALT6_uc010dmb.3_Intron	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 (B4GALT6), mRNA.	175					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TCAGATGTAAGAAAAAAATTG	0.353													-	29218671	A	-	29218671	7	5	92	1	0	1	0	1	0	0	0	0	1275	246	9	0	644	0	B4GALT6	18	29218671	Frame_Shift_Del	DEL	A	TCGA-BR-8485-01A-11D-2394-08	7692497	29218671	48858577	289	59013											
KLHL14	57565	broad.mit.edu	37	chr18	30275464	30275466	+	In_Frame_Del	DEL	AAG	AAG	-													cctctccacccaacacgaacAagaagttttccacctccaca							TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr18:30275463_30275465CAAG>C	uc002kxm.1	-	3	1508_1510	c.1120_1122CTTG>G	c.(1120-1122)ttg>G	p.L374del		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	374						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCAACACGAACAAGAAGTTTTCC	0.404													-	30275466	AAG	-	30275464	7	5	92	1	0	1	0	1	0	0	0	0	8370	131	5	0	789	0	KLHL14	18	30275464	In_Frame_Del	DEL	AAG	TCGA-BR-8485-01A-11D-2394-08	1056793	30275464	47801784	290	59014											
SETBP1	26040	broad.mit.edu	37	chr18	42281639	42281639	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagctaaagattcagaccAcaaagcgggctaagaaaccc	9	10	1	4			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr18:42281639A>G	uc010dni.2	+	2	624	c.328A>G	c.(328-330)ACA>GCA	p.T110A	SETBP1_uc002lay.2_Missense_Mutation_p.T110A	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	110						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GATTCAGACCACAAAGCGGGC	0.473									Schinzel-Giedion_syndrome				G	42281639	A	G	42281639	3	3	92	1	0	0	0	0	1	0	0	0	14129	159	6	3	330	3	SETBP1	18	42281639	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	12006175	42281639	35795609	291	59015											
SERPINB3	6317	broad.mit.edu	37	chr18	61322928	61322928	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccatagaagaggatgctgTtggtcttattttgccttatg	11	6	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr18:61322928T>G	uc002lji.2	-	8	1280	c.1136A>C	c.(1135-1137)AAC>ACC	p.N379T	SERPINB4_uc002ljg.2_Intron|SERPINB3_uc010dqa.2_Missense_Mutation_p.N327T	NM_006919	NP_008850	P29508	SPB3_HUMAN	serine (or cysteine) proteinase inhibitor, clade	379					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GAGGATGCTGTTGGTCTTATT	0.418													G	61322928	T	G	61322928	3	3	92	1	0	0	0	0	1	0	0	0	14102	1725	60	5	40	5	SERPINB3	18	61322928	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	19041289	61322928	16754320	292	59016											
CBLN2	147381	broad.mit.edu	37	chr18	70205481	70205481	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaggttgcctctctcaAgtttgagatgcactttgtct	9	10	3	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr18:70205481A>G	uc002lku.2	-	4	840	c.605T>C	c.(604-606)CTT>CCT	p.L202P	CBLN2_uc002lkv.2_Missense_Mutation_p.L202P	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	202	C1q.					integral to membrane					0		Esophageal squamous(42;0.131)				GCCTCTCTCAAGTTTGAGATG	0.527													G	70205481	A	G	70205481	3	3	92	1	0	0	0	0	1	0	0	0	2705	72	3	3	73	3	CBLN2	18	70205481	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	8882553	70205481	7871767	293	59017											
ZNF236	7776	broad.mit.edu	37	chr18	74616428	74616428	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagaccatacaagtgttttTactgtcatcgtgcatataaa	6	7	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr18:74616428T>C	uc002lmi.2	+	12	2179	c.1981T>C	c.(1981-1983)TAC>CAC	p.Y661H	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	661	C2H2-type 14.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAAGTGTTTTTACTGTCATCG	0.338													C	74616428	T	C	74616428	3	2	92	1	0	0	0	0	1	0	0	0	17786	1754	61	3	2027	3	ZNF236	18	74616428	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	4410947	74616428	3460820	294	59018											
MUC16	94025	broad.mit.edu	37	chr19	9058642	9058642	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcttgtaaaggacagTgcttgtctctgtggatgagg	15	6	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:9058642T>C	uc002mkp.2	-	3	29008	c.28804A>G	c.(28804-28806)ACT>GCT	p.T9602A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9604	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TAAAGGACAGTGCTTGTCTCT	0.527													C	9058642	T	C	9058642	3	2	92	1	0	0	0	0	1	0	0	0	9973	1696	59	3	15047	3	MUC16	19	9058642	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08		9058642	50070341	295	59019											
MUC16	94025	broad.mit.edu	37	chr19	9075479	9075479	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgacatagaaactattgcTtgttccctggtggaggttgt	12	6	0	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:9075479T>G	uc002mkp.2	-	3	12171	c.11967A>C	c.(11965-11967)CAA>CAC	p.Q3989H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3991	Thr-rich.|Extracellular (Potential).|Ser-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AAACTATTGCTTGTTCCCTGG	0.488													G	9075479	T	G	9075479	3	3	92	1	0	0	0	0	1	0	0	0	9973	1606	56	5	31884	5	MUC16	19	9075479	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	16837	9075479	50053504	296	59020											
MUC16	94025	broad.mit.edu	37	chr19	9075509	9075509	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggttgtaaccactggAgatgtgagtttggatgacgc	16	5	0	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:9075509A>C	uc002mkp.2	-	3	12141	c.11937T>G	c.(11935-11937)TCT>TCG	p.S3979S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3981	Thr-rich.|Extracellular (Potential).|Ser-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TAACCACTGGAGATGTGAGTT	0.483													C	9075509	A	C	9075509	2	2	92	1	0	0	0	0	0	0	0	1	9973	291	11	5		5	MUC16	19	9075509	Silent	SNP	A	TCGA-BR-8485-01A-11D-2394-08	30	9075509	50053474	297	59021											
MUC16	94025	broad.mit.edu	37	chr19	9083248	9083248	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtgttaggaggcctgacTcagcactggtgggcttcaca	14	10	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:9083248T>C	uc002mkp.2	-	1	8771	c.8567A>G	c.(8566-8568)GAG>GGG	p.E2856G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2856	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GAGGCCTGACTCAGCACTGGT	0.547													C	9083248	T	C	9083248	3	2	92	1	0	0	0	0	1	0	0	0	9973	1551	54	3	35292	3	MUC16	19	9083248	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	7739	9083248	50045735	298	59022											
EMR2	30817	broad.mit.edu	37	chr19	14875404	14875404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggggcctccagcagctcatCcagcgcctgtaagatgctct	11	14	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:14875404C>T	uc002mzp.1	-	11	1381	c.925G>A	c.(925-927)GAT>AAT	p.D309N	EMR2_uc010dzs.1_5'UTR|EMR2_uc010xnw.1_Missense_Mutation_p.D309N|EMR2_uc002mzo.1_Missense_Mutation_p.D309N|EMR2_uc002mzq.1_Missense_Mutation_p.D260N|EMR2_uc002mzr.1_Missense_Mutation_p.D260N|EMR2_uc002mzs.1_Missense_Mutation_p.D167N|EMR2_uc002mzt.1_Missense_Mutation_p.D216N|EMR2_uc002mzu.1_Missense_Mutation_p.D216N|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	309	Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4						AGCAGCTCATCCAGCGCCTGT	0.632													T	14875404	C	T	14875404	3	4	92	1	0	0	0	0	1	0	0	0	5105	855	30	4	1590	4	EMR2	19	14875404	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	5792156	14875404	44253579	299	59023											
UPK1A	11045	broad.mit.edu	37	chr19	36164136	36164136	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccctctgtctccccagtaCctggtgctcatgctcatcgt	7	17	4	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:36164136C>A	uc002oaw.2	+	3	288	c.288C>A	c.(286-288)TAC>TAA	p.Y96*	UPK1A_uc010eeh.2_Nonsense_Mutation_p.Y96*|uc002oax.1_Intron	NM_007000	NP_008931	O00322	UPK1A_HUMAN	uroplakin 1A	96	Helical; (Potential).				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity				0	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCCCAGTACCTGGTGCTCA	0.602													A	36164136	C	A	36164136	4	1	92	1	0	0	0	0	0	1	0	0	17004	518	18	5	298	5	UPK1A	19	36164136	Nonsense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	21288732	36164136	22964847	300	59024											
ZNF793	390927	broad.mit.edu	37	chr19	38023304	38023304	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggcttcacccaagaggAgtggcaccggctgagtcctg	15	11	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:38023304A>C	uc010efm.2	+	6	504	c.62A>C	c.(61-63)GAG>GCG	p.E21A	ZNF793_uc010xts.1_Missense_Mutation_p.E21A|ZNF793_uc010efo.2_Missense_Mutation_p.E21A	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	zinc finger protein 793	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACCCAAGAGGAGTGGCACCGG	0.473													C	38023304	A	C	38023304	3	2	92	1	0	0	0	0	1	0	0	0	18162	304	11	5	68	5	ZNF793	19	38023304	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	1859168	38023304	21105679	301	59025											
ZNF571	51276	broad.mit.edu	37	chr19	38057008	38057008	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggtaattttgacacacaTgtaaagcccttcctgacttg	7	10	0	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:38057008T>C	uc002ogt.2	-	4	423	c.322A>G	c.(322-324)ATG>GTG	p.M108V	uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Missense_Mutation_p.M108V	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTGACACACATGTAAAGCCCT	0.398													C	38057008	T	C	38057008	3	2	92	1	0	0	0	0	1	0	0	0	18000	1464	51	3	1511	3	ZNF571	19	38057008	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	33704	38057008	21071975	302	59026											
BCAM	4059	broad.mit.edu	37	chr19	45322958	45322958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaagggggcccctgctgcCgccagcggcgggagaagggg	20	12	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:45322958C>T	uc002ozu.2	+	13	1782	c.1738C>T	c.(1738-1740)CGC>TGC	p.R580C	BCAM_uc002ozt.1_Missense_Mutation_p.R580C	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	580	Cytoplasmic (Potential).				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CCCCTGCTGCCGCCAGCGGCG	0.537													T	45322958	C	T	45322958	3	4	92	1	0	0	0	0	1	0	0	0	1344	652	23	1	1788	1	BCAM	19	45322958	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	7265950	45322958	13806025	303	59027											
ZNF665	79788	broad.mit.edu	37	chr19	53669150	53669150	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcttctctccagtatgaattCtcttatgacttgttagccgt	7	10	2	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:53669150C>A	uc010eqm.1	-	4	693	c.593G>T	c.(592-594)AGA>ATA	p.R198I		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	133	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		AGTATGAATTCTCTTATGACT	0.388													A	53669150	C	A	53669150	3	1	92	1	0	0	0	0	1	0	0	0	18070	913	32	5	1447	5	ZNF665	19	53669150	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	8346192	53669150	5459833	304	59028											
ZNF813	126017	broad.mit.edu	37	chr19	53993839	53993839	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acccatgacagaaatcaaaaAgttgactggtagtgcagacc	9	9	1	4			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:53993839A>C	uc002qbu.2	+	4	481	c.353A>C	c.(352-354)AAG>ACG	p.K118T	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GAAATCAAAAAGTTGACTGGT	0.393													C	53993839	A	C	53993839	3	2	92	1	0	0	0	0	1	0	0	0	18172	72	3	5	363	5	ZNF813	19	53993839	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	324689	53993839	5135144	305	59029											
LILRA2	11027	broad.mit.edu	37	chr19	55098681	55098681	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagcatccctaggccaAcacccccaggattacacagt	7	16	0	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:55098681A>C	uc002qgg.3	+	8	1409	c.1320A>C	c.(1318-1320)CAA>CAC	p.Q440H	LILRA2_uc010ern.2_3'UTR|LILRA2_uc002qgf.2_Missense_Mutation_p.Q423H|LILRA2_uc010ero.2_Missense_Mutation_p.Q411H|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	440	Extracellular (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		CCCTAGGCCAACACCCCCAGG	0.587													C	55098681	A	C	55098681	3	2	92	1	0	0	0	0	1	0	0	0	8785	40	2	5	1350	5	LILRA2	19	55098681	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	1104842	55098681	4030302	306	59030											
NLRP13	126204	broad.mit.edu	37	chr19	56422095	56422095	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catcctggaatcaaacttgcTtgtccttcatgagggagaga	10	9	2	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:56422095T>A	uc010ygg.1	-	6	2141	c.2116A>T	c.(2116-2118)AGC>TGC	p.S706C		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	706							ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCAAACTTGCTTGTCCTTCAT	0.443													A	56422095	T	A	56422095	3	1	92	1	0	0	0	0	1	0	0	0	10475	1609	56	5	1037	5	NLRP13	19	56422095	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	1323414	56422095	2706888	307	59031											
ZNF264	9422	broad.mit.edu	37	chr19	57723986	57723986	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaagcggattcatagtggAgagaagccctatgaatgtgt	12	7	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:57723986A>G	uc002qob.2	+	4	1934	c.1521A>G	c.(1519-1521)GGA>GGG	p.G507G		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TTCATAGTGGAGAGAAGCCCT	0.512													G	57723986	A	G	57723986	2	3	92	1	0	0	0	0	0	0	0	1	17801	291	11	3		3	ZNF264	19	57723986	Silent	SNP	A	TCGA-BR-8485-01A-11D-2394-08	1301891	57723986	1404997	308	59032											
AURKC	6795	broad.mit.edu	37	chr19	57743421	57743421	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgcctcacagtcgatgActttgaaatcgggcgtcccc	12	14	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:57743421A>G	uc002qoe.2	+	3	314	c.125A>G	c.(124-126)GAC>GGC	p.D42G	AURKC_uc002qoc.2_Missense_Mutation_p.D23G|AURKC_uc002qod.2_Missense_Mutation_p.D8G|AURKC_uc010etv.2_Missense_Mutation_p.D39G	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	42					cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		ACAGTCGATGACTTTGAAATC	0.557													G	57743421	A	G	57743421	3	3	92	1	0	0	0	0	1	0	0	0	1224	275	10	3	140	3	AURKC	19	57743421	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	19435	57743421	1385562	309	59033											
ZNF460	10794	broad.mit.edu	37	chr19	57802744	57802744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttcacagtggagagaagCcttttgtgtgcaatgaatgt	14	5	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:57802744C>T	uc002qog.2	+	3	1157	c.835C>T	c.(835-837)CCT>TCT	p.P279S	ZNF460_uc010ygv.1_Missense_Mutation_p.P238S	NM_006635	NP_006626	Q14592	ZN460_HUMAN	zinc finger protein 460	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGAGAGAAGCCTTTTGTGTG	0.498													T	57802744	C	T	57802744	3	4	92	1	0	0	0	0	1	0	0	0	17921	739	26	2	845	2	ZNF460	19	57802744	Missense_Mutation	SNP	C	TCGA-BR-8485-01A-11D-2394-08	59323	57802744	1326239	310	59034											
ZNF211	10520	broad.mit.edu	37	chr19	58152347	58152347	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacagaggcacctttcagaAgttatgtggacactgcctcg	10	10	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:58152347A>C	uc002qpq.2	+	3	673	c.493A>C	c.(493-495)AGT>CGT	p.S165R	ZNF211_uc010yhb.1_Missense_Mutation_p.S169R|ZNF211_uc002qpp.2_Missense_Mutation_p.S178R|ZNF211_uc002qpr.2_Missense_Mutation_p.S229R|ZNF211_uc002qps.2_Missense_Mutation_p.S230R|ZNF211_uc002qpt.2_Missense_Mutation_p.S177R|ZNF211_uc010yhc.1_Missense_Mutation_p.S177R|ZNF211_uc010yhd.1_Missense_Mutation_p.S104R|ZNF211_uc010yhe.1_Missense_Mutation_p.S156R	NM_198855	NP_942152	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 2	165						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACCTTTCAGAAGTTATGTGGA	0.468													C	58152347	A	C	58152347	3	2	92	1	0	0	0	0	1	0	0	0	17764	72	3	5	546	5	ZNF211	19	58152347	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	349603	58152347	976636	311	59035											
ZNF606	80095	broad.mit.edu	37	chr19	58491404	58491404	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggctaaactctgccccaAgtccacagaattcagagctt	7	13	3	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:58491404A>G	uc002qqw.2	-	7	1262	c.644T>C	c.(643-645)CTT>CCT	p.L215P	ZNF606_uc010yhp.1_Missense_Mutation_p.L125P	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CTCTGCCCCAAGTCCACAGAA	0.413													G	58491404	A	G	58491404	3	3	92	1	0	0	0	0	1	0	0	0	18029	72	3	3	1738	3	ZNF606	19	58491404	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	339057	58491404	637579	312	59036											
ZNF329	79673	broad.mit.edu	37	chr19	58640334	58640334	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagtaaagatgttctcaaaAttcttaccttcatacgattt	5	7	3	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:58640334A>C	uc002qrn.2	-	4	774	c.537T>G	c.(535-537)AAT>AAG	p.N179K	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGTTCTCAAAATTCTTACCTT	0.353													C	58640334	A	C	58640334	3	2	92	1	0	0	0	0	1	0	0	0	17844	98	4	5	1092	5	ZNF329	19	58640334	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	148930	58640334	488649	313	59037											
SPTLC3	55304	broad.mit.edu	37	chr20	13107335	13107335	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcatcagatcactaaaacTtatcatgggactggatggga	9	7	4	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr20:13107335T>G	uc002wod.1	+	9	1539	c.1250T>G	c.(1249-1251)CTT>CGT	p.L417R		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	417					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)	TCACTAAAACTTATCATGGGA	0.493													G	13107335	T	G	13107335	3	3	92	1	0	0	0	0	1	0	0	0	15124	1609	56	5	1284	5	SPTLC3	20	13107335	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08		13107335	49918185	314	59038											
SEC23B	10483	broad.mit.edu	37	chr20	18505155	18505155	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgaccttcaagcactcaaaGagtccctgcagatgtccctg	8	13	2	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr20:18505155G>C	uc002wqz.1	+	5	888	c.445G>C	c.(445-447)GAG>CAG	p.E149Q	SEC23B_uc002wra.1_Missense_Mutation_p.E149Q|SEC23B_uc002wrb.1_Missense_Mutation_p.E149Q|SEC23B_uc010zsb.1_Missense_Mutation_p.E131Q|SEC23B_uc002wrc.1_Missense_Mutation_p.E149Q	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B	149					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1						AGCACTCAAAGAGTCCCTGCA	0.502													C	18505155	G	C	18505155	3	2	92	1	0	0	0	0	1	0	0	0	13992	943	33	5	459	5	SEC23B	20	18505155	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	5397820	18505155	44520365	315	59039											
XRN2	22803	broad.mit.edu	37	chr20	21312985	21312985	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accattattagagaagaattCaaaccaaacaagcccaaacc	4	11	1	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr20:21312985C>T	uc002wsf.1	+	9	860	c.765C>T	c.(763-765)TTC>TTT	p.F255F	XRN2_uc002wsg.1_Silent_p.F179F|XRN2_uc010zsk.1_Silent_p.F201F	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	255					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1						GAGAAGAATTCAAACCAAACA	0.388													T	21312985	C	T	21312985	2	4	92	1	0	0	0	0	0	0	0	1	17457	825	29	4		4	XRN2	20	21312985	Silent	SNP	C	TCGA-BR-8485-01A-11D-2394-08	2807830	21312985	41712535	316	59040											
ENTPD6	955	broad.mit.edu	37	chr20	25187739	25187739	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacggtccttggcaaacaAggatgagaaaaatatccaac	9	9	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr20:25187739A>C	uc002wuj.2	+	3	262	c.82A>C	c.(82-84)AGG>CGG	p.R28R	ENTPD6_uc010zsy.1_Silent_p.R28R|ENTPD6_uc010gdj.1_5'UTR|ENTPD6_uc010zsz.1_Intron|ENTPD6_uc002wum.2_Silent_p.R11R|ENTPD6_uc010zta.1_Silent_p.R28R|ENTPD6_uc002wun.2_Silent_p.R28R|ENTPD6_uc002wuk.2_Silent_p.R27R|ENTPD6_uc002wul.2_Silent_p.R27R|ENTPD6_uc010ztb.1_5'UTR|ENTPD6_uc010ztc.1_5'UTR|ENTPD6_uc002wuo.2_Intron|ENTPD6_uc010ztd.1_5'Flank	NM_001247	NP_001238	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6	28	Cytoplasmic (Potential).					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity				0						TTGGCAAACAAGGATGAGAAA	0.582													C	25187739	A	C	25187739	2	2	92	1	0	0	0	0	0	0	0	1	5143	63	3	5		5	ENTPD6	20	25187739	Silent	SNP	A	TCGA-BR-8485-01A-11D-2394-08	3874754	25187739	37837781	317	59041											
KCNB1	3745	broad.mit.edu	37	chr20	47990175	47990175	+	Frame_Shift_Del	DEL	T	T	-													ggctggcatcagggctggggTtggcctccacaaacctacca							TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr20:47990174_47990174GT>G	uc002xur.1	-	1	2089	c.1923_1923AC>C	c.(1921-1923)aacfs	p.N641fs	KCNB1_uc002xus.1_Frame_Shift_Del_p.N641fs	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	641					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAGGGCTGGGGTTGGCCTCCA	0.567													-	47990175	T	-	47990175	7	5	92	1	0	1	0	1	0	0	0	0	8012	1725	60	0	658	0	KCNB1	20	47990175	Frame_Shift_Del	DEL	T	TCGA-BR-8485-01A-11D-2394-08	22802436	47990175	15035345	318	59042											
DOK5	55816	broad.mit.edu	37	chr20	53171511	53171511	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtattcaagaaagcttcaAgcaaaggtccaaaaagactg	8	7	2	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr20:53171511A>G	uc002xwy.2	+	2	326	c.106A>G	c.(106-108)AGC>GGC	p.S36G	DOK5_uc010gin.2_5'UTR|DOK5_uc002xwz.2_5'UTR	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	docking protein 5	36	PH.						insulin receptor binding			ovary(1)	1			Colorectal(105;0.202)			GAAAGCTTCAAGCAAAGGTCC	0.388													G	53171511	A	G	53171511	3	3	92	1	0	0	0	0	1	0	0	0	4700	72	3	3	112	3	DOK5	20	53171511	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	5181336	53171511	9854009	319	59043											
SAMSN1	64092	broad.mit.edu	37	chr21	15858379	15858379	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atctaactgtgacttatttaAggagatgtctgagctcaagg	10	6	3	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr21:15858379A>C	uc002yju.1	-	8	1058	c.976T>G	c.(976-978)TTA>GTA	p.L326V	SAMSN1_uc010gky.1_Missense_Mutation_p.L158V|SAMSN1_uc002yjv.1_Missense_Mutation_p.L394V	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization	326					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			ovary(3)|pancreas(1)	4				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GACTTATTTAAGGAGATGTCT	0.408													C	15858379	A	C	15858379	3	2	92	1	0	0	0	0	1	0	0	0	13830	69	3	5	149	5	SAMSN1	21	15858379	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08		15858379	32271516	320	59044											
TMPRSS15	5651	broad.mit.edu	37	chr21	19704431	19704431	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attagggtagctgtttggaaAgttcgtagaactgaatgttg	13	3	0	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr21:19704431A>C	uc002ykw.2	-	14	1655	c.1624T>G	c.(1624-1626)TTT>GTT	p.F542V		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	542	Extracellular (Potential).|CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						CTGTTTGGAAAGTTCGTAGAA	0.423													C	19704431	A	C	19704431	3	2	92	1	0	0	0	0	1	0	0	0	16243	72	3	5	1483	5	TMPRSS15	21	19704431	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	3846052	19704431	28425464	321	59045											
PRDM15	63977	broad.mit.edu	37	chr21	43221454	43221454	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcacctggggctgggcCgcctgctgtgggggtgcctg	19	13	0	0	rs142036110	byFrequency	TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr21:43221454C>T	uc002yzq.1	-	31	4581	c.4470G>A	c.(4468-4470)GCG>GCA	p.A1490A	PRDM15_uc002yzo.2_Silent_p.A1161A|PRDM15_uc002yzp.2_Silent_p.A1181A|PRDM15_uc002yzr.1_Silent_p.A1181A	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	1490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGGGCTGGGCCGCCTGCTGTG	0.667													T	43221454	C	T	43221454	2	4	92	1	0	0	0	0	0	0	0	1	12456	639	23	1		1	PRDM15	21	43221454	Silent	SNP	C	TCGA-BR-8485-01A-11D-2394-08	23517023	43221454	4908441	322	59046											
CACNG2	10369	broad.mit.edu	37	chr22	36960743	36960743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtggcgcgggccgtggcCcgcagctgtttgtgccggtc	17	14	0	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr22:36960743C>T	uc003aps.1	-	4	909	c.627G>A	c.(625-627)CGG>CGA	p.R209R		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	voltage-dependent calcium channel gamma-2	209					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity				0						GGGCCGTGGCCCGCAGCTGTT	0.672													T	36960743	C	T	36960743	2	4	92	1	0	0	0	0	0	0	0	1	2557	610	22	4		4	CACNG2	22	36960743	Silent	SNP	C	TCGA-BR-8485-01A-11D-2394-08		36960743	14343823	323	59047											
TBL1X	6907	broad.mit.edu	37	chrX	9665416	9665416	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcggaacacagacaacaaTaatttgggatgcccacacag	9	10	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:9665416T>G	uc010ndq.2	+	12	1429	c.1061T>G	c.(1060-1062)ATA>AGA	p.I354R	TBL1X_uc004csq.3_Missense_Mutation_p.I303R|TBL1X_uc010ndr.2_Missense_Mutation_p.I303R|TBL1X_uc004csr.2_Missense_Mutation_p.I354R|TBL1X_uc004css.2_Missense_Mutation_p.I305R	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN	transducin beta-like 1X isoform a	354	WD 3.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Hepatocellular(5;0.000888)				CAGACAACAATAATTTGGGAT	0.333													G	9665416	T	G	9665416	3	3	92	1	0	0	0	0	1	0	0	0	15636	1406	49	5	1095	5	TBL1X	23	9665416	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08		9665416	145605144	324	59048											
REPS2	9185	broad.mit.edu	37	chrX	17153480	17153480	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagccttccactgctgcaAgtgggccagcttctgcggca	12	13	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:17153480A>C	uc004cxv.1	+	16	1930	c.1759A>C	c.(1759-1761)AGT>CGT	p.S587R	REPS2_uc004cxw.1_Missense_Mutation_p.S586R|REPS2_uc011miw.1_Missense_Mutation_p.S385R	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	587	Interaction with ASAP1 (By similarity).|Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			skin(2)|central_nervous_system(1)	3	Hepatocellular(33;0.183)					CACTGCTGCAAGTGGGCCAGC	0.473													C	17153480	A	C	17153480	3	2	92	1	0	0	0	0	1	0	0	0	13229	72	3	5	1821	5	REPS2	23	17153480	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	7488064	17153480	138117080	325	59049											
MAGEB3	4114	broad.mit.edu	37	chrX	30254229	30254229	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggtcacgtagtgctctcaAgaagcctcagagagcactat	10	10	3	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:30254229A>G	uc004dca.1	+	5	925	c.188A>G	c.(187-189)AAG>AGG	p.K63R		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	63											0						AGTGCTCTCAAGAAGCCTCAG	0.413													G	30254229	A	G	30254229	3	3	92	1	0	0	0	0	1	0	0	0	9177	72	3	3	190	3	MAGEB3	23	30254229	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	13100749	30254229	125016331	326	59050											
DMD	1756	broad.mit.edu	37	chrX	32360278	32360278	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcaatttcccgccagcgcTtgctgagctggatctgagtt	10	12	2	2			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:32360278T>C	uc004dda.1	-	41	6105	c.5861A>G	c.(5860-5862)AAG>AGG	p.K1954R	DMD_uc004dcw.2_Missense_Mutation_p.K610R|DMD_uc004dcx.2_Missense_Mutation_p.K613R|DMD_uc004dcz.2_Missense_Mutation_p.K1831R|DMD_uc004dcy.1_Missense_Mutation_p.K1950R|DMD_uc004ddb.1_Missense_Mutation_p.K1946R|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1954	Spectrin 13.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCGCCAGCGCTTGCTGAGCTG	0.502													C	32360278	T	C	32360278	3	2	92	1	0	0	0	0	1	0	0	0	4580	1609	56	3	5500	3	DMD	23	32360278	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	2106049	32360278	122910282	327	59051											
DMD	1756	broad.mit.edu	37	chrX	32430014	32430014	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgctctgttcaagcaacTtttgcctccttacagcctaa	7	12	2	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:32430014T>G	uc004dda.1	-	30	4332	c.4088A>C	c.(4087-4089)AAG>ACG	p.K1363T	DMD_uc004dcw.2_Missense_Mutation_p.K19T|DMD_uc004dcx.2_Missense_Mutation_p.K22T|DMD_uc004dcz.2_Missense_Mutation_p.K1240T|DMD_uc004dcy.1_Missense_Mutation_p.K1359T|DMD_uc004ddb.1_Missense_Mutation_p.K1355T|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1363	Spectrin 9.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCAAGCAACTTTTGCCTCCT	0.393													G	32430014	T	G	32430014	3	3	92	1	0	0	0	0	1	0	0	0	4580	1609	56	5	7317	5	DMD	23	32430014	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	69736	32430014	122840546	328	59052											
MAGEB16	139604	broad.mit.edu	37	chrX	35821201	35821201	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggagtttgtggccaaAgttcatgggtcttacccaca	11	10	2	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:35821201A>G	uc010ngt.1	+	2	1167	c.888A>G	c.(886-888)AAA>AAG	p.K296K		NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	296	MAGE.									lung(3)|ovary(2)|breast(1)|skin(1)	7						TTGTGGCCAAAGTTCATGGGT	0.498													G	35821201	A	G	35821201	2	3	92	1	0	0	0	0	0	0	0	1	9174	69	3	3		3	MAGEB16	23	35821201	Silent	SNP	A	TCGA-BR-8485-01A-11D-2394-08	3391187	35821201	119449359	329	59053											
CACNA1F	778	broad.mit.edu	37	chrX	49071806	49071806	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggtcagaggtcacctggTtcttgtccagctcacagttt	12	10	4	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:49071806T>G	uc004dnb.2	-	28	3529	c.3467A>C	c.(3466-3468)AAC>ACC	p.N1156T	CACNA1F_uc010nip.2_Missense_Mutation_p.N1145T	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1156	Cytoplasmic (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	GGTCACCTGGTTCTTGTCCAG	0.557													G	49071806	T	G	49071806	3	3	92	1	0	0	0	0	1	0	0	0	2543	1725	60	5	2550	5	CACNA1F	23	49071806	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	13250605	49071806	106198754	330	59054											
CCNB3	85417	broad.mit.edu	37	chrX	50051704	50051704	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaataagtcattatctttaAaaaagtgctcaaatcatgag	5	6	5	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:50051704A>C	uc004dox.3	+	6	833	c.535A>C	c.(535-537)AAA>CAA	p.K179Q	CCNB3_uc004doy.2_Missense_Mutation_p.K179Q|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	179					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					ATTATCTTTAAAAAAGTGCTC	0.428													C	50051704	A	C	50051704	3	2	92	1	0	0	0	0	1	0	0	0	2914	15	1	5	549	5	CCNB3	23	50051704	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	979898	50051704	105218856	331	59055											
GPR173	54328	broad.mit.edu	37	chrX	53106155	53106155	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcatgctgttctgcatcAgcgtcacccgctacatggcc	8	16	4	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:53106155A>G	uc004dru.2	+	2	610	c.352A>G	c.(352-354)AGC>GGC	p.S118G		NM_018969	NP_061842	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	118	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						GTTCTGCATCAGCGTCACCCG	0.587													G	53106155	A	G	53106155	3	3	92	1	0	0	0	0	1	0	0	0	6671	188	7	3	354	3	GPR173	23	53106155	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	3054451	53106155	102164405	332	59056											
PFKFB1	5207	broad.mit.edu	37	chrX	54987257	54987257	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaatattgggtacttacTtcctgatttgcagggcttcc	8	9	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:54987257T>A	uc004dty.1	-	3	388	c.317A>T	c.(316-318)AAG>ATG	p.K106M	PFKFB1_uc010nkd.1_Missense_Mutation_p.K92M|PFKFB1_uc011mol.1_Missense_Mutation_p.K41M	NM_002625	NP_002616	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,	106	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(1)	1						GGGTACTTACTTCCTGATTTG	0.443													A	54987257	T	A	54987257	3	1	92	1	0	0	0	0	1	0	0	0	11760	1623	56	5	1146	5	PFKFB1	23	54987257	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	1881102	54987257	100283303	333	59057											
KIAA2022	340533	broad.mit.edu	37	chrX	73963789	73963789	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaagcctaggagctggtcTgagagcagctgctctccata	14	10	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:73963789T>G	uc004eby.2	-	3	1220	c.603A>C	c.(601-603)TCA>TCC	p.S201S		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	201					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						GGAGCTGGTCTGAGAGCAGCT	0.458													G	73963789	T	G	73963789	2	3	92	1	0	0	0	0	0	0	0	1	8269	1567	55	5		5	KIAA2022	23	73963789	Silent	SNP	T	TCGA-BR-8485-01A-11D-2394-08	18976532	73963789	81306771	334	59058											
CYSLTR1	10800	broad.mit.edu	37	chrX	77528938	77528938	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatagaggttgacatacaaAgcataggtgctgaggcggca	13	7	0	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:77528938A>G	uc004edb.2	-	3	706	c.306T>C	c.(304-306)GCT>GCC	p.A102A	CYSLTR1_uc010nma.2_Silent_p.A102A|CYSLTR1_uc010nmb.2_Silent_p.A102A	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	102	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			ovary(1)	1					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TGACATACAAAGCATAGGTGC	0.428													G	77528938	A	G	77528938	2	3	92	1	0	0	0	0	0	0	0	1	4201	59	3	3		3	CYSLTR1	23	77528938	Silent	SNP	A	TCGA-BR-8485-01A-11D-2394-08	3565149	77528938	77741622	335	59059											
FAM46D	169966	broad.mit.edu	37	chrX	79698243	79698243	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgaatggttccgtagcaAgttacatacttgcaagccac	9	9	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:79698243A>C	uc004edl.1	+	5	539	c.205A>C	c.(205-207)AGT>CGT	p.S69R	FAM46D_uc004edm.1_Missense_Mutation_p.S69R	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	hypothetical protein LOC169966	69										lung(2)	2						TTCCGTAGCAAGTTACATACT	0.378													C	79698243	A	C	79698243	3	2	92	1	0	0	0	0	1	0	0	0	5568	72	3	5	207	5	FAM46D	23	79698243	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	2169305	79698243	75572317	336	59060											
CYLC1	1538	broad.mit.edu	37	chrX	83127964	83127964	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gataaggcattctttcagaaAaattttgcaatggccaccca	7	9	2	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:83127964A>C	uc004eei.1	+	4	269	c.248A>C	c.(247-249)AAA>ACA	p.K83T	CYLC1_uc004eeh.1_Missense_Mutation_p.K82T	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	83					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						TCTTTCAGAAAAATTTTGCAA	0.358													C	83127964	A	C	83127964	3	2	92	1	0	0	0	0	1	0	0	0	4141	14	1	5	262	5	CYLC1	23	83127964	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	3429721	83127964	72142596	337	59061											
PCDH11X	27328	broad.mit.edu	37	chrX	91133643	91133644	+	Frame_Shift_Ins	INS	-	-	C													cccaaatactgagatagctgINSatgtatcctcaccaactagt							TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:91133642_91133643T>TC	uc004efk.2	+	1	3248_3249	c.2403_2404T>TC	c.(2401-2406)gctgatfs	p.A801fs	PCDH11X_uc004efl.2_Frame_Shift_Ins_p.A801fs|PCDH11X_uc010nmv.2_Frame_Shift_Ins_p.A801fs|PCDH11X_uc004efm.2_Frame_Shift_Ins_p.A801fs|PCDH11X_uc004efn.2_Frame_Shift_Ins_p.A801fs|PCDH11X_uc004efo.2_Frame_Shift_Ins_p.A801fs|PCDH11X_uc004efh.2_Frame_Shift_Ins_p.A801fs|PCDH11X_uc004efj.1_Frame_Shift_Ins_p.A801fs	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	801					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGAGATAGCTGATGTATCCTC	0.446													C	91133644	-	C	91133643	7	5	92	1	0	1	1	0	0	0	0	0	11508	1290	45	0	2410	0	PCDH11X	23	91133643	Frame_Shift_Ins	INS	-	TCGA-BR-8485-01A-11D-2394-08	8005679	91133643	64136917	338	59062											
ARHGEF6	9459	broad.mit.edu	37	chrX	135750188	135750188	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acccagtggcacagtgatggTtatggaagaattgaggtctt	13	6	1	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:135750188T>G	uc004fab.2	-	22	2793	c.2331A>C	c.(2329-2331)TAA>TAC	p.*777Y	ARHGEF6_uc011mwd.1_Nonstop_Mutation_p.*650Y|ARHGEF6_uc011mwe.1_Nonstop_Mutation_p.*623Y	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	777					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					ACAGTGATGGTTATGGAAGAA	0.468													G	135750188	T	G	135750188	4	3	92	1	0	0	0	0	0	0	0	0	910	1732	60	5	3	5	ARHGEF6	23	135750188	Nonstop_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	44616545	135750188	19520372	339	59063											
MCF2	4168	broad.mit.edu	37	chrX	138714595	138714595	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaaccaaaaccaagtgcaAgttcccagggaaggaagcct	9	10	0	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:138714595A>C	uc004fau.2	-	2	364	c.70T>G	c.(70-72)TTG>GTG	p.L24V	MCF2_uc004fav.2_Missense_Mutation_p.L24V|MCF2_uc011mwl.1_Missense_Mutation_p.L24V|MCF2_uc010nsh.1_Missense_Mutation_p.L24V|MCF2_uc011mwm.1_Missense_Mutation_p.L24V|MCF2_uc011mwn.1_Missense_Mutation_p.L169V|MCF2_uc004faw.2_Missense_Mutation_p.L84V|MCF2_uc011mwo.1_Missense_Mutation_p.L84V	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	24	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					ACCAAGTGCAAGTTCCCAGGG	0.373													C	138714595	A	C	138714595	3	2	92	1	0	0	0	0	1	0	0	0	9378	69	3	5	2883	5	MCF2	23	138714595	Missense_Mutation	SNP	A	TCGA-BR-8485-01A-11D-2394-08	2964407	138714595	16555965	340	59064											
MAGEC3	139081	broad.mit.edu	37	chrX	140953386	140953386	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcctctgccccacatacTtcaaggtaaggactctaagg	8	12	3	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:140953386T>G	uc011mwp.1	+	2	253	c.253T>G	c.(253-255)TTC>GTC	p.F85V		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	85										skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCACATACTTCAAGGTAAG	0.532													G	140953386	T	G	140953386	3	3	92	1	0	0	0	0	1	0	0	0	9182	1609	56	5	259	5	MAGEC3	23	140953386	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	2238791	140953386	14317174	341	59065											
MAGEC1	9947	broad.mit.edu	37	chrX	140994814	140994814	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcctgagtgggaggacTccctgtctcctcactacttt	9	13	3	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:140994814T>C	uc004fbt.2	+	4	1910	c.1624T>C	c.(1624-1626)TCC>CCC	p.S542P	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	542							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGGAGGACTCCCTGTCTCC	0.557										HNSCC(15;0.026)			C	140994814	T	C	140994814	3	2	92	1	0	0	0	0	1	0	0	0	9180	1551	54	3	1630	3	MAGEC1	23	140994814	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	41428	140994814	14275746	342	59066											
PASD1	139135	broad.mit.edu	37	chrX	150773196	150773196	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgattacttcaaccaagTgacgctacaggtaagagggc	10	9	1	3			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:150773196T>G	uc004fev.3	+	3	439	c.107T>G	c.(106-108)GTG>GGG	p.V36G		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	36	PAS.					nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAACCAAGTGACGCTACAG	0.303													G	150773196	T	G	150773196	3	3	92	1	0	0	0	0	1	0	0	0	11471	1696	59	5	113	5	PASD1	23	150773196	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	9778382	150773196	4497364	343	59067											
ATP2B3	492	broad.mit.edu	37	chrX	152830478	152830478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgaggagctggccgaaggcGaggaagagatcgaccatgcc	16	10	0	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:152830478G>A	uc004fht.1	+	19	3385	c.3259G>A	c.(3259-3261)GAG>AAG	p.E1087K	ATP2B3_uc004fhs.1_Missense_Mutation_p.E1087K|ATP2B3_uc010nuf.1_Missense_Mutation_p.E110K|ATP2B3_uc004fhu.1_Missense_Mutation_p.E10K	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	1087	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCGAAGGCGAGGAAGAGAT	0.662													A	152830478	G	A	152830478	3	1	92	1	0	0	0	0	1	0	0	0	1141	1059	37	1	3333	1	ATP2B3	23	152830478	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	2057282	152830478	2440082	344	59068											
FLNA	2316	broad.mit.edu	37	chrX	153592919	153592919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtggaagtcctggggcGcgtcacggatgtcagccatg	17	10	2	0			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:153592919G>A	uc004fkk.2	-	13	2246	c.1997C>T	c.(1996-1998)GCG>GTG	p.A666V	FLNA_uc010nuu.1_Missense_Mutation_p.A666V	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	666					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.A666A(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTCCTGGGGCGCGTCACGGAT	0.627													A	153592919	G	A	153592919	3	1	92	1	0	0	0	0	1	0	0	0	5933	1087	38	1	6090	1	FLNA	23	153592919	Missense_Mutation	SNP	G	TCGA-BR-8485-01A-11D-2394-08	762441	153592919	1677641	345	59069											
GAB3	139716	broad.mit.edu	37	chrX	153940729	153940729	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctacctgaatggtggaacTtaaggaactttccagcaatg	9	8	1	1			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:153940729T>G	uc004fmj.1	-	4	889	c.841A>C	c.(841-843)AGT>CGT	p.S281R	GAB3_uc004fmk.1_Missense_Mutation_p.S282R|GAB3_uc010nve.1_Missense_Mutation_p.S282R|GAB3_uc004fml.1_Intron	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN	Gab3 protein isoform 2	281										ovary(1)	1	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATGGTGGAACTTAAGGAACTT	0.512													G	153940729	T	G	153940729	3	3	92	1	0	0	0	0	1	0	0	0	6150	1609	56	5	947	5	GAB3	23	153940729	Missense_Mutation	SNP	T	TCGA-BR-8485-01A-11D-2394-08	347810	153940729	1329831	346	59070											
EYA3	2140	broad.mit.edu	37	chr1	28339654	28339654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgctgcaggtgcaggcGccatgacactaggcttctcc	12	13	2	1			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr1:28339654G>A	uc001bpi.1	-	9	902	c.737C>T	c.(736-738)GCG>GTG	p.A246V	EYA3_uc010ofs.1_Missense_Mutation_p.A193V|EYA3_uc010oft.1_Missense_Mutation_p.A200V|EYA3_uc001bpj.2_Missense_Mutation_p.A200V|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA	NM_001990	NP_001981	Q99504	EYA3_HUMAN	eyes absent 3	246					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			ovary(2)|skin(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		AGGTGCAGGCGCCATGACACT	0.512													A	28339654	G	A	28339654	3	1	93	1	0	0	0	0	1	0	0	0	5330	1087	38	1	1024	1	EYA3	1	28339654	Missense_Mutation	SNP	G	TCGA-BR-8486-01A-31D-2394-08		28339654	220910967	1	59071											
RCSD1	92241	broad.mit.edu	37	chr1	167666869	167666869	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacatgacagccaagaaacAaagaagctggaggagggagc	14	7	0	3			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr1:167666869A>C	uc001gem.2	+	6	1195	c.1008A>C	c.(1006-1008)ACA>ACC	p.T336T	RCSD1_uc010pli.1_Silent_p.T306T	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	336										ovary(2)|central_nervous_system(2)|skin(1)	5	all_hematologic(923;0.215)					GCCAAGAAACAAAGAAGCTGG	0.557													C	167666869	A	C	167666869	2	2	93	1	0	0	0	0	0	0	0	1	13185	117	5	5		5	RCSD1	1	167666869	Silent	SNP	A	TCGA-BR-8486-01A-31D-2394-08	139327215	167666869	81583752	2	59072											
HMCN1	83872	broad.mit.edu	37	chr1	186107009	186107009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcggcaaccaaaccaggaCcaggacttgcaataatccat	8	13	0	0			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr1:186107009C>T	uc001grq.1	+	89	14058	c.13829C>T	c.(13828-13830)ACC>ATC	p.T4610I	HMCN1_uc001grs.1_Missense_Mutation_p.T179I	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4610	TSP type-1 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CAAACCAGGACCAGGACTTGC	0.502													T	186107009	C	T	186107009	3	4	93	1	0	0	0	0	1	0	0	0	7220	507	18	4	14183	4	HMCN1	1	186107009	Missense_Mutation	SNP	C	TCGA-BR-8486-01A-31D-2394-08	18440140	186107009	63143612	3	59073											
STRN	6801	broad.mit.edu	37	chr2	37082457	37082457	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgctaccatatggctcgggtCactgctcactagatccacag	9	13	2	1			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr2:37082457C>T	uc002rpn.2	-	15	1885	c.1876G>A	c.(1876-1878)GAC>AAC	p.D626N	STRN_uc010ezx.2_Missense_Mutation_p.D589N	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	626					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TGGCTCGGGTCACTGCTCACT	0.393													T	37082457	C	T	37082457	3	4	93	1	0	0	0	0	1	0	0	0	15328	826	29	4	482	4	STRN	2	37082457	Missense_Mutation	SNP	C	TCGA-BR-8486-01A-31D-2394-08		37082457	206116916	4	59074											
SNRNP200	23020	broad.mit.edu	37	chr2	96950142	96950142	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcatccaccacgaagaggTtgatgttctgcacgttcttg	9	12	3	2			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr2:96950142T>C	uc002svu.2	-	31	4432	c.4346A>G	c.(4345-4347)AAC>AGC	p.N1449S	SNRNP200_uc002svt.2_Missense_Mutation_p.N59S|SNRNP200_uc010yuj.1_RNA|SNRNP200_uc002svv.1_5'UTR	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1449	Helicase ATP-binding 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						CACGAAGAGGTTGATGTTCTG	0.557													C	96950142	T	C	96950142	3	2	93	1	0	0	0	0	1	0	0	0	14852	1725	60	3	2124	3	SNRNP200	2	96950142	Missense_Mutation	SNP	T	TCGA-BR-8486-01A-31D-2394-08	59867685	96950142	146249231	5	59075											
LRP1B	53353	broad.mit.edu	37	chr2	141128795	141128795	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctccattacatttcaaagAtgctgaaatacatccatcac	3	11	3	2			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr2:141128795A>G	uc002tvj.1	-	70	11800	c.10828T>C	c.(10828-10830)TCT>CCT	p.S3610P		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3610	Extracellular (Potential).|LDL-receptor class A 28.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTTCAAAGATGCTGAAATA	0.294										TSP Lung(27;0.18)			G	141128795	A	G	141128795	3	3	93	1	0	0	0	0	1	0	0	0	8955	333	12	3	3059	3	LRP1B	2	141128795	Missense_Mutation	SNP	A	TCGA-BR-8486-01A-31D-2394-08	44178653	141128795	102070578	6	59076											
SCN1A	6323	broad.mit.edu	37	chr2	166900312	166900312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtgcatcttcccattcGctggaaacactgccagcatc	8	14	1	0			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr2:166900312G>A	uc010zcz.1	-	11	1928	c.1910C>T	c.(1909-1911)GCG>GTG	p.A637V	SCN1A_uc002udo.3_Missense_Mutation_p.A506V|SCN1A_uc010fpk.2_Missense_Mutation_p.A506V	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	637						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTTCCCATTCGCTGGAAACAC	0.542													A	166900312	G	A	166900312	3	1	93	1	0	0	0	0	1	0	0	0	13914	1087	38	1	4183	1	SCN1A	2	166900312	Missense_Mutation	SNP	G	TCGA-BR-8486-01A-31D-2394-08	25771517	166900312	76299061	7	59077											
PPIG	9360	broad.mit.edu	37	chr2	170493840	170493840	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatcaaagtcccttctcaaAaataaaacaaagcagtcagg	6	9	3	1			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr2:170493840A>G	uc002uez.2	+	14	2292	c.2072A>G	c.(2071-2073)AAA>AGA	p.K691R	PPIG_uc010fpx.2_Missense_Mutation_p.K676R|PPIG_uc010fpy.2_Missense_Mutation_p.K684R|PPIG_uc002ufb.2_Missense_Mutation_p.K691R|PPIG_uc002ufd.2_Missense_Mutation_p.K688R	NM_004792	NP_004783	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G	691					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|central_nervous_system(1)	3					L-Proline(DB00172)	CCCTTCTCAAAAATAAAACAA	0.353													G	170493840	A	G	170493840	3	3	93	1	0	0	0	0	1	0	0	0	12324	14	1	3	2118	3	PPIG	2	170493840	Missense_Mutation	SNP	A	TCGA-BR-8486-01A-31D-2394-08	3593528	170493840	72705533	8	59078											
STAT1	6772	broad.mit.edu	37	chr2	191851578	191851578	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaggaaactgatgtccctAccaggtgccgaaattcagcc	11	11	1	2			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr2:191851578A>G	uc002usj.2	-	14	1609	c.1221_splice	c.e14+1	p.L407_splice	STAT1_uc010fse.1_Splice_Site_p.L407_splice|STAT1_uc002usk.2_Splice_Site_p.L407_splice|STAT1_uc002usl.2_Splice_Site_p.L409_splice|STAT1_uc010fsf.1_Splice_Site_p.L219_splice	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription						activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TGATGTCCCTACCAGGTGCCG	0.483													G	191851578	A	G	191851578	5	3	93	1	0	0	0	0	0	0	1	0	15263	405	14	3	1081	3	STAT1	2	191851578	Splice_Site	SNP	A	TCGA-BR-8486-01A-31D-2394-08	21357738	191851578	51347795	9	59079											
DNPEP	23549	broad.mit.edu	37	chr2	220251022	220251022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaccttgacaatgacgcGtccagccagagtcaggtcac	9	15	2	3			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr2:220251022G>A	uc010zlg.1	-	5	551	c.469C>T	c.(469-471)CGC>TGC	p.R157C	DNPEP_uc010zlf.1_5'Flank|DNPEP_uc002vle.2_Missense_Mutation_p.R149C|DNPEP_uc002vlf.1_Missense_Mutation_p.R135C|DNPEP_uc002vlh.2_Missense_Mutation_p.R96C|DNPEP_uc002vli.1_Missense_Mutation_p.R96C|DNPEP_uc002vlj.2_Missense_Mutation_p.R139C|uc002vlk.1_5'Flank	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	139					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	ACAATGACGCGTCCAGCCAGA	0.627													A	220251022	G	A	220251022	3	1	93	1	0	0	0	0	1	0	0	0	4679	1145	40	1	1056	1	DNPEP	2	220251022	Missense_Mutation	SNP	G	TCGA-BR-8486-01A-31D-2394-08	28399444	220251022	22948351	10	59080											
WDR6	11180	broad.mit.edu	37	chr3	49051915	49051915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccactcctttacacacgaGgcacccaaccagaggcggtg	10	15	0	1			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr3:49051915G>A	uc003cvj.2	+	4	2994	c.2856G>A	c.(2854-2856)GAG>GAA	p.E952E	WDR6_uc011bby.1_Silent_p.E400E|WDR6_uc010hkn.2_Silent_p.E896E|WDR6_uc011bbz.1_Silent_p.E871E	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	922	WD 14.				cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TTACACACGAGGCACCCAACC	0.552											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	49051915	G	A	49051915	2	1	93	1	0	0	0	0	0	0	0	1	17307	991	35	4		4	WDR6	3	49051915	Silent	SNP	G	TCGA-BR-8486-01A-31D-2394-08		49051915	148970515	11	59081											
STAG1	10274	broad.mit.edu	37	chr3	136096591	136096591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcctcaataccaacaaatCctcctgtaagacacattcaa	2	13	2	1			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr3:136096591C>T	uc003era.1	-	23	2573	c.2281G>A	c.(2281-2283)GAT>AAT	p.D761N	STAG1_uc003erb.1_Missense_Mutation_p.D761N|STAG1_uc003erc.1_Missense_Mutation_p.D535N	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	761					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						ACCAACAAATCCTCCTGTAAG	0.368													T	136096591	C	T	136096591	3	4	93	1	0	0	0	0	1	0	0	0	15241	855	30	4	1543	4	STAG1	3	136096591	Missense_Mutation	SNP	C	TCGA-BR-8486-01A-31D-2394-08	87044676	136096591	61925839	12	59082											
IL13	3596	broad.mit.edu	37	chr5	131995159	131995159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcatcaacctgacagctgGcatggtaaggacctttgggt	13	9	1	1			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr5:131995159G>A	uc003kxj.1	+	2	238	c.224G>A	c.(223-225)GGC>GAC	p.G75D		NM_002188	NP_002179	P35225	IL13_HUMAN	interleukin 13 precursor	75					cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity			ovary(1)|skin(1)	2		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGACAGCTGGCATGGTAAGG	0.592													A	131995159	G	A	131995159	3	1	93	1	0	0	0	0	1	0	0	0	7628	1203	42	2	230	2	IL13	5	131995159	Missense_Mutation	SNP	G	TCGA-BR-8486-01A-31D-2394-08		131995159	48920101	13	59083											
PKHD1	5314	broad.mit.edu	37	chr6	51900507	51900507	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactagagcctcggatggtgGcccagagccctcctgtaaca	11	13	0	2			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr6:51900507G>T	uc003pah.1	-	28	3386	c.3110C>A	c.(3109-3111)GCC>GAC	p.A1037D	PKHD1_uc003pai.2_Missense_Mutation_p.A1037D	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1037	IPT/TIG 5.|Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TCGGATGGTGGCCCAGAGCCC	0.408													T	51900507	G	T	51900507	3	4	93	1	0	0	0	0	1	0	0	0	11971	1203	42	5	9313	5	PKHD1	6	51900507	Missense_Mutation	SNP	G	TCGA-BR-8486-01A-31D-2394-08		51900507	119214560	14	59084											
CARD11	84433	broad.mit.edu	37	chr7	2956965	2956965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcttgctcgcgagagacGggggctgacccgggggtcgc	19	11	0	2	rs142828146		TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr7:2956965G>A	uc003smv.2	-	20	3066	c.2662C>T	c.(2662-2664)CGT>TGT	p.R888C		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	888					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.R881C(1)		haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGCGAGAGACGGGGGCTGACC	0.557			Mis		DLBCL								A	2956965	G	A	2956965	3	1	93	1	0	0	0	0	1	0	0	0	2645	1116	39	1	826	1	CARD11	7	2956965	Missense_Mutation	SNP	G	TCGA-BR-8486-01A-31D-2394-08		2956965	156181698	15	59085											
HOXA6	3203	broad.mit.edu	37	chr7	27185319	27185319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtcctccccgctgggctgCgtggaattgatgagcttgtt	14	10	0	2			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr7:27185319C>T	uc003syo.1	-	2	660	c.660G>A	c.(658-660)ACG>ACA	p.T220T	HOXA5_uc003syn.1_5'Flank|uc003syp.1_5'Flank	NM_024014	NP_076919	P31267	HXA6_HUMAN	homeobox A6	220						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						CGCTGGGCTGCGTGGAATTGA	0.612													T	27185319	C	T	27185319	2	4	93	1	0	0	0	0	0	0	0	1	7296	755	27	1		1	HOXA6	7	27185319	Silent	SNP	C	TCGA-BR-8486-01A-31D-2394-08	24228354	27185319	131953344	16	59086											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73922530	73922530	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtgtctgccttagactcCatggtgagtgtccccaccca	9	15	1	2			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr7:73922530C>A	uc003uaq.2	+	2	513	c.120C>A	c.(118-120)TCC>TCA	p.S40S	GTF2IRD1_uc010lbq.2_Silent_p.S40S|GTF2IRD1_uc003uap.2_Silent_p.S40S|GTF2IRD1_uc003uar.1_Silent_p.S40S	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	40						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						CCTTAGACTCCATGGTGAGTG	0.612													A	73922530	C	A	73922530	2	1	93	1	0	0	0	0	0	0	0	1	6868	581	21	5		5	GTF2IRD1	7	73922530	Silent	SNP	C	TCGA-BR-8486-01A-31D-2394-08	46737211	73922530	85216133	17	59087											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73933930	73933930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggcgctccccaaccacgCcatccgagagctcaagcagg	10	18	1	1			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr7:73933930C>T	uc003uaq.2	+	6	1190	c.797C>T	c.(796-798)GCC>GTC	p.A266V	GTF2IRD1_uc010lbq.2_Missense_Mutation_p.A298V|GTF2IRD1_uc003uap.2_Missense_Mutation_p.A266V|GTF2IRD1_uc003uar.1_Missense_Mutation_p.A266V	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	266						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						CCCAACCACGCCATCCGAGAG	0.692													T	73933930	C	T	73933930	3	4	93	1	0	0	0	0	1	0	0	0	6868	739	26	2	815	2	GTF2IRD1	7	73933930	Missense_Mutation	SNP	C	TCGA-BR-8486-01A-31D-2394-08	11400	73933930	85204733	18	59088											
PCLO	27445	broad.mit.edu	37	chr7	82582618	82582618	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggggaaggcaatttataatCtgctgaagtcactaaattta	9	5	2	1			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr7:82582618C>T	uc003uhx.2	-	5	7940	c.7651G>A	c.(7651-7653)GAT>AAT	p.D2551N	PCLO_uc003uhv.2_Missense_Mutation_p.D2551N|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2482					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AATTTATAATCTGCTGAAGTC	0.398													T	82582618	C	T	82582618	3	4	93	1	0	0	0	0	1	0	0	0	11583	913	32	4	7878	4	PCLO	7	82582618	Missense_Mutation	SNP	C	TCGA-BR-8486-01A-31D-2394-08	8648688	82582618	76556045	19	59089											
AKAP9	10142	broad.mit.edu	37	chr7	91709233	91709233	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	taaatcaactaagagaagatGagttggggtcagatatatca	10	4	3	4			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr7:91709233G>C	uc003ulg.2	+	31	8011	c.7786G>C	c.(7786-7788)GAG>CAG	p.E2596Q	AKAP9_uc003ulf.2_Missense_Mutation_p.E2588Q|AKAP9_uc003uli.2_Missense_Mutation_p.E2219Q|AKAP9_uc003ulj.2_Missense_Mutation_p.E366Q	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2608	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAGAGAAGATGAGTTGGGGTC	0.318			T	BRAF	papillary thyroid								C	91709233	G	C	91709233	3	2	93	1	0	0	0	0	1	0	0	0	459	1291	45	5	7908	5	AKAP9	7	91709233	Missense_Mutation	SNP	G	TCGA-BR-8486-01A-31D-2394-08	9126615	91709233	67429430	20	59090											
ZNF3	7551	broad.mit.edu	37	chr7	99672845	99672845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacgcttccactccttccGgatgaagtacacagctacat	6	14	0	1			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr7:99672845G>A	uc003usq.2	-	5	491	c.184C>T	c.(184-186)CGG>TGG	p.R62W	ZNF3_uc003usp.2_Missense_Mutation_p.R62W|ZNF3_uc003usr.2_Missense_Mutation_p.R62W|ZNF3_uc010lgj.2_Missense_Mutation_p.R26W|ZNF3_uc003uss.2_Missense_Mutation_p.R69W|ZNF3_uc003ust.3_Missense_Mutation_p.R62W	NM_032924	NP_116313	P17036	ZNF3_HUMAN	zinc finger protein 3 isoform 2	62	KRAB.				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CACTCCTTCCGGATGAAGTAC	0.488													A	99672845	G	A	99672845	3	1	93	1	0	0	0	0	1	0	0	0	17826	1115	39	1	1293	1	ZNF3	7	99672845	Missense_Mutation	SNP	G	TCGA-BR-8486-01A-31D-2394-08	7963612	99672845	59465818	21	59091											
SND1	27044	broad.mit.edu	37	chr7	127326707	127326707	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattgtccgaggtcagcctcGtggtgggcctcctcctgagc	13	14	1	1			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr7:127326707G>T	uc003vmi.2	+	2	345	c.119G>T	c.(118-120)CGT>CTT	p.R40L		NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	40	TNase-like 1.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						GGTCAGCCTCGTGGTGGGCCT	0.567													T	127326707	G	T	127326707	3	4	93	1	0	0	0	0	1	0	0	0	14844	1145	40	5	125	5	SND1	7	127326707	Missense_Mutation	SNP	G	TCGA-BR-8486-01A-31D-2394-08	27653862	127326707	31811956	22	59092											
OR2A12	346525	broad.mit.edu	37	chr7	143792959	143792959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggggcttttctttggcagCgccattgtcatgtacatggc	13	9	2	0			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr7:143792959C>T	uc011kty.1	+	1	759	c.759C>T	c.(757-759)AGC>AGT	p.S253S		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A,	253	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	Melanoma(164;0.0783)					TCTTTGGCAGCGCCATTGTCA	0.562													T	143792959	C	T	143792959	2	4	93	1	0	0	0	0	0	0	0	1	10975	767	27	1		1	OR2A12	7	143792959	Silent	SNP	C	TCGA-BR-8486-01A-31D-2394-08	16466252	143792959	15345704	23	59093											
UBR5	51366	broad.mit.edu	37	chr8	103284921	103284922	+	Frame_Shift_Ins	INS	-	-	TA													tctgtgtacagccattggtgINStagtagcacatcttcgacca					rs146909587		TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr8:103284920_103284921T>TTA	uc003ykr.2	-	47	7264_7265	c.6809_6810A>TAA	c.(6808-6810)acafs	p.T2270fs	UBR5_uc003yks.2_Frame_Shift_Ins_p.T2270fs	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2270					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CAGCCATTGGTGTAGTAGCACA	0.426													TA	103284922	-	TA	103284921	7	5	93	1	0	1	1	0	0	0	0	0	16902	1377	48	0	1638	0	UBR5	8	103284921	Frame_Shift_Ins	INS	-	TCGA-BR-8486-01A-31D-2394-08		103284921	43079101	24	59094											
ORM1	5004	broad.mit.edu	37	chr9	117087068	117087068	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaggctccttttctcttccAgtgggaggccaagagcattt	11	10	1	2	rs112963597		TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr9:117087068A>T	uc004bik.3	+	4	440	c.329_splice	c.e4-2	p.V110_splice	ORM1_uc011lxo.1_Splice_Site_p.V110_splice	NM_000607	NP_000598	P02763	A1AG1_HUMAN	orosomucoid 1 precursor						acute-phase response|regulation of immune system process|transport	extracellular space	protein binding				0		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	TTTCTCTTCCAGTGGGAGGCC	0.537													T	117087068	A	T	117087068	5	4	93	1	0	0	0	0	0	0	1	0	11267	202	7	5	341	5	ORM1	9	117087068	Splice_Site	SNP	A	TCGA-BR-8486-01A-31D-2394-08		117087068	24126363	25	59095											
SARDH	1757	broad.mit.edu	37	chr9	136531865	136531865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggggactcaccggcccacCgctggggtcatggatgtaac	14	12	2	0			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr9:136531865C>T	uc004cep.3	-	20	2757	c.2623G>A	c.(2623-2625)GGT>AGT	p.G875S	SARDH_uc004ceo.2_Missense_Mutation_p.G875S|SARDH_uc011mdn.1_Missense_Mutation_p.G875S|SARDH_uc011mdo.1_Missense_Mutation_p.G707S|SARDH_uc004cen.2_Missense_Mutation_p.G325S	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	875					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		ACCGGCCCACCGCTGGGGTCA	0.632													T	136531865	C	T	136531865	3	4	93	1	0	0	0	0	1	0	0	0	13841	652	23	1	141	1	SARDH	9	136531865	Missense_Mutation	SNP	C	TCGA-BR-8486-01A-31D-2394-08	19444797	136531865	4681566	26	59096											
PRKCQ	5588	broad.mit.edu	37	chr10	6525445	6525445	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acattttgtgcaagataaaaTcctcaatttttagtttaatc	4	6	1	1			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr10:6525445T>C	uc001ijj.1	-	11	1211	c.1136A>G	c.(1135-1137)GAT>GGT	p.D379G	PRKCQ_uc009xim.1_Missense_Mutation_p.D379G|PRKCQ_uc001iji.1_Missense_Mutation_p.D412G|PRKCQ_uc009xin.1_Missense_Mutation_p.D343G|PRKCQ_uc010qax.1_Missense_Mutation_p.D254G	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	379					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						CAAGATAAAATCCTCAATTTT	0.433													C	6525445	T	C	6525445	3	2	93	1	0	0	0	0	1	0	0	0	12515	1435	50	3	1016	3	PRKCQ	10	6525445	Missense_Mutation	SNP	T	TCGA-BR-8486-01A-31D-2394-08		6525445	129009302	27	59097											
ST8SIA6	338596	broad.mit.edu	37	chr10	17365124	17365124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttactgccaacatctttaCtaacatctcctgtggttggg	7	10	2	0			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr10:17365124C>T	uc001ipd.2	-	7	668	c.668G>A	c.(667-669)AGT>AAT	p.S223N	ST8SIA6_uc010qce.1_RNA	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide	223	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(1)	1						AACATCTTTACTAACATCTCC	0.313													T	17365124	C	T	17365124	3	4	93	1	0	0	0	0	1	0	0	0	15235	565	20	4	536	4	ST8SIA6	10	17365124	Missense_Mutation	SNP	C	TCGA-BR-8486-01A-31D-2394-08	10839679	17365124	118169623	28	59098											
CEND1	51286	broad.mit.edu	37	chr11	788451	788453	+	In_Frame_Del	DEL	CTT	CTT	-													tgcttctcggccggggcctcCttcttcgagggcttggtcaa							TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr11:788450_788452CCTT>C	uc021qbp.1	-	0	125_127	c.125_127AAGG>G	c.(124-129)aaggag>aGag	p.42_43KE>R	CEND1_uc001lrh.1_In_Frame_Del_p.42_43KE>R	NM_016564	NP_057648	Q8N111	CEND_HUMAN	Homo sapiens cell cycle exit and neuronal differentiation 1 (CEND1), mRNA.	42						integral to membrane				prostate(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCGGGGCCTCCTTCTTCGAGGG	0.68													-	788453	CTT	-	788451	7	5	93	1	0	1	0	1	0	0	0	0	3225	680	24	0	327	0	CEND1	11	788451	In_Frame_Del	DEL	CTT	TCGA-BR-8486-01A-31D-2394-08		788451	134218065	29	59099											
KCNJ11	3767	broad.mit.edu	37	chr11	17408516	17408516	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgggcttggccttggccaTgggcacgctgcgcttgcgca	15	13	0	0			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr11:17408516T>C	uc001mna.2	-	1	1691	c.1123A>G	c.(1123-1125)ATG>GTG	p.M375V	KCNJ11_uc001mnb.3_Missense_Mutation_p.M288V	NM_000525	NP_000516	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel J11	375						integral to membrane	ATP-activated inward rectifier potassium channel activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		GCCTTGGCCATGGGCACGCTG	0.652											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	17408516	T	C	17408516	3	2	93	1	0	0	0	0	1	0	0	0	8045	1464	51	3	53	3	KCNJ11	11	17408516	Missense_Mutation	SNP	T	TCGA-BR-8486-01A-31D-2394-08	16620065	17408516	117598000	30	59100											
NOP2	4839	broad.mit.edu	37	chr12	6675951	6675951	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccacacttacctctttcgAgcacgactagacagcctctt	5	16	2	1			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr12:6675951A>G	uc001qpk.1	-	2	185	c.141T>C	c.(139-141)GCT>GCC	p.A47A	NOP2_uc001qph.1_Silent_p.A47A|NOP2_uc001qpi.1_Silent_p.A47A|NOP2_uc001qpj.1_Intron|NOP2_uc001qpl.1_Silent_p.A47A|NOP2_uc001qpm.1_Silent_p.A47A			P46087	NOP2_HUMAN	Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120.	47					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			ovary(2)	2						ACCTCTTTCGAGCACGACTAG	0.393													G	6675951	A	G	6675951	2	3	93	1	0	0	0	0	0	0	0	1	10538	291	11	3		3	NOP2	12	6675951	Silent	SNP	A	TCGA-BR-8486-01A-31D-2394-08		6675951	127175944	31	59101											
PRKD1	5587	broad.mit.edu	37	chr14	30066697	30066697	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttgaatggaagatattacCttcatgagatatttccttcc	6	7	1	3			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr14:30066697C>A	uc001wqh.2	-	16	2615	c.2434G>T	c.(2434-2436)GCC>TCC	p.A812S		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	812	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AAGATATTACCTTCATGAGAT	0.279													A	30066697	C	A	30066697	3	1	93	1	0	0	0	0	1	0	0	0	12518	695	24	5	316	5	PRKD1	14	30066697	Missense_Mutation	SNP	C	TCGA-BR-8486-01A-31D-2394-08		30066697	77282843	32	59102											
HECTD1	25831	broad.mit.edu	37	chr14	31575869	31575874	+	In_Frame_Del	DEL	AAGTGG	AAGTGG	-													taccctaaatcctctatgctAagtggaggcccagaacctga							TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr14:31575868_31575873TAAGTGG>T	uc001wrc.1	-	37	7694_7699	c.7205_7210CCACTTA>A	c.(7204-7212)ccacttagc>cAgc	p.2402_2404PLS>Q	HECTD1_uc001wra.1_In_Frame_Del_p.528_530PLS>Q|HECTD1_uc001wrb.1_In_Frame_Del_p.528_530PLS>Q	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	2402	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCCTCTATGCTAAGTGGAGGCCCAGA	0.369													-	31575874	AAGTGG	-	31575869	7	5	93	1	0	1	0	1	0	0	0	0	7039	349	13	0	647	0	HECTD1	14	31575869	In_Frame_Del	DEL	AAGTGG	TCGA-BR-8486-01A-31D-2394-08	1509172	31575869	75773671	33	59103											
PAX9	5083	broad.mit.edu	37	chr14	37132197	37132197	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgcatcgtggaactggccCaactgggcatccgaccgtgt	12	13	0	0			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr14:37132197C>T	uc001wty.3	+	3	817	c.100C>T	c.(100-102)CAA>TAA	p.Q34*		NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	34	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GGAACTGGCCCAACTGGGCAT	0.642													T	37132197	C	T	37132197	4	4	93	1	0	0	0	0	0	1	0	0	11486	595	21	4	106	4	PAX9	14	37132197	Nonsense_Mutation	SNP	C	TCGA-BR-8486-01A-31D-2394-08	5556328	37132197	70217343	34	59104											
KCNK13	56659	broad.mit.edu	37	chr14	90651085	90651085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggcagcgtccggaaccGctgcaacatctccatagaga	11	14	1	1			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr14:90651085G>A	uc001xye.1	+	2	1407	c.965G>A	c.(964-966)CGC>CAC	p.R322H		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	322	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				GTCCGGAACCGCTGCAACATC	0.612													A	90651085	G	A	90651085	3	1	93	1	0	0	0	0	1	0	0	0	8061	1087	38	1	971	1	KCNK13	14	90651085	Missense_Mutation	SNP	G	TCGA-BR-8486-01A-31D-2394-08	53518888	90651085	16698455	35	59105											
TDRD9	122402	broad.mit.edu	37	chr14	104481153	104481153	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatggaccaagagtataTatataagcagcgattcatcc	8	8	2	1	rs148349259	byFrequency	TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr14:104481153T>C	uc001yom.3	+	21	2228	c.2198T>C	c.(2197-2199)ATA>ACA	p.I733T	TDRD9_uc001yon.3_Missense_Mutation_p.I471T	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	733					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CAAGAGTATATATATAAGCAG	0.393													C	104481153	T	C	104481153	3	2	93	1	0	0	0	0	1	0	0	0	15733	1406	49	3	2280	3	TDRD9	14	104481153	Missense_Mutation	SNP	T	TCGA-BR-8486-01A-31D-2394-08	13830068	104481153	2868387	36	59106											
MYEF2	50804	broad.mit.edu	37	chr15	48441243	48441243	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttaccacactgactgaatTtctcttttagtttctgccaa	4	11	2	2			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr15:48441243T>A	uc001zwi.3	-	16	1749	c.1625A>T	c.(1624-1626)AAA>ATA	p.K542I	MYEF2_uc001zwg.3_Missense_Mutation_p.K80I|MYEF2_uc001zwh.3_Missense_Mutation_p.K130I|MYEF2_uc001zwj.3_Missense_Mutation_p.K518I	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	542	RRM 3.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CTGACTGAATTTCTCTTTTAG	0.299													A	48441243	T	A	48441243	3	1	93	1	0	0	0	0	1	0	0	0	10024	1841	64	5	185	5	MYEF2	15	48441243	Missense_Mutation	SNP	T	TCGA-BR-8486-01A-31D-2394-08		48441243	54090149	37	59107											
THSD4	79875	broad.mit.edu	37	chr15	72040794	72040794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgtgggacagaggacccGtgatgtgaagtgtgtgagca	18	7	0	4			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr15:72040794G>A	uc002atb.1	+	13	2355	c.2276G>A	c.(2275-2277)CGT>CAT	p.R759H	THSD4_uc002ate.2_Missense_Mutation_p.R399H	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	759	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						CAGAGGACCCGTGATGTGAAG	0.557													A	72040794	G	A	72040794	3	1	93	1	0	0	0	0	1	0	0	0	15875	1145	40	1	2326	1	THSD4	15	72040794	Missense_Mutation	SNP	G	TCGA-BR-8486-01A-31D-2394-08	23599551	72040794	30490598	38	59108											
SCAMP5	192683	broad.mit.edu	37	chr15	75308977	75308977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctggtgggctgtctcgcGtggctgatcggaggcggggg	20	9	1	1			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr15:75308977G>A	uc002azk.1	+	4	342	c.180G>A	c.(178-180)GCG>GCA	p.A60A	SCAMP5_uc002azl.1_Silent_p.A60A|SCAMP5_uc002azm.1_Silent_p.A60A|SCAMP5_uc002azn.1_Silent_p.A60A|SCAMP5_uc010uly.1_Intron	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	60	Helical; (Potential).				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			ovary(1)	1						GCTGTCTCGCGTGGCTGATCG	0.607													A	75308977	G	A	75308977	2	1	93	1	0	0	0	0	0	0	0	1	13874	1132	40	1		1	SCAMP5	15	75308977	Silent	SNP	G	TCGA-BR-8486-01A-31D-2394-08	3268183	75308977	27222415	39	59109											
CHRNB4	1143	broad.mit.edu	37	chr15	78921738	78921738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggagaaggtgaccagcacCatggtgaacatgaggtactt	13	7	0	4			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr15:78921738C>T	uc002bed.1	-	5	1021	c.909G>A	c.(907-909)ATG>ATA	p.M303I	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.M121I	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	303	Helical; (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						TGACCAGCACCATGGTGAACA	0.592													T	78921738	C	T	78921738	3	4	93	1	0	0	0	0	1	0	0	0	3393	594	21	4	595	4	CHRNB4	15	78921738	Missense_Mutation	SNP	C	TCGA-BR-8486-01A-31D-2394-08	3612761	78921738	23609654	40	59110											
ZSCAN2	54993	broad.mit.edu	37	chr15	85164300	85164300	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagctttagccggagtgccAacctcataacccaccagagg	10	13	1	2			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr15:85164300A>C	uc002bkr.2	+	3	1100	c.874A>C	c.(874-876)AAC>CAC	p.N292H	ZSCAN2_uc010bmz.1_Missense_Mutation_p.N290H|ZSCAN2_uc010bna.2_Missense_Mutation_p.N142H|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	292	C2H2-type 3.				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCGGAGTGCCAACCTCATAAC	0.522													C	85164300	A	C	85164300	3	2	93	1	0	0	0	0	1	0	0	0	18228	130	5	5	970	5	ZSCAN2	15	85164300	Missense_Mutation	SNP	A	TCGA-BR-8486-01A-31D-2394-08	6242562	85164300	17367092	41	59111											
ITGAM	3684	broad.mit.edu	37	chr16	31283290	31283290	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttgggcggacacacacGgccacgggcatccgcaaagt	13	14	0	0	rs41499844		TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr16:31283290G>A	uc002ebq.2	+	7	779	c.681G>A	c.(679-681)ACG>ACA	p.T227T	ITGAM_uc002ebr.2_Silent_p.T227T	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	227	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						GGACACACACGGCCACGGGCA	0.522													A	31283290	G	A	31283290	2	1	93	1	0	0	0	0	0	0	0	1	7887	1103	39	1		1	ITGAM	16	31283290	Silent	SNP	G	TCGA-BR-8486-01A-31D-2394-08		31283290	59071463	42	59112											
HYDIN	54768	broad.mit.edu	37	chr16	71218824	71218824	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgatctgtggtcggcacaTcaaacgtgtttttgccagtc	11	9	2	1			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr16:71218824T>G	uc002ezr.2	-	3	333	c.205A>C	c.(205-207)ATG>CTG	p.M69L	HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Missense_Mutation_p.M69L|HYDIN_uc010vmc.1_Missense_Mutation_p.M86L|HYDIN_uc010vmd.1_Missense_Mutation_p.M96L|HYDIN_uc002ezw.3_Missense_Mutation_p.M86L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	69										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				GGTCGGCACATCAAACGTGTT	0.453													G	71218824	T	G	71218824	3	3	93	1	0	0	0	0	1	0	0	0	7467	1435	50	5	15505	5	HYDIN	16	71218824	Missense_Mutation	SNP	T	TCGA-BR-8486-01A-31D-2394-08	39935534	71218824	19135929	43	59113											
ZZEF1	23140	broad.mit.edu	37	chr17	3977531	3977531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatccagcccccaagacaCggcaacatcgggcagcccac	8	17	0	1			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr17:3977531C>T	uc002fxe.2	-	24	3662	c.3598G>A	c.(3598-3600)GTG>ATG	p.V1200M		NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1200							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CCCCAAGACACGGCAACATCG	0.592													T	3977531	C	T	3977531	3	4	93	1	0	0	0	0	1	0	0	0	18252	536	19	1	5415	1	ZZEF1	17	3977531	Missense_Mutation	SNP	C	TCGA-BR-8486-01A-31D-2394-08		3977531	77217679	44	59114											
TP53	7157	broad.mit.edu	37	chr17	7579395	7579396	+	Frame_Shift_Ins	INS	-	-	C													tggtaggttttctgggaaggINSgacagaagatgacaggggcc							TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr17:7579395_7579396insC	uc002gim.2	-	4	485_486	c.291_292insG	c.(289-294)GTCCCTfs	p.V97fs	TP53_uc002gig.1_Frame_Shift_Ins_p.V97fs|TP53_uc002gih.2_Frame_Shift_Ins_p.V97fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Ins_p.V97fs|TP53_uc010cni.1_Frame_Shift_Ins_p.V97fs|TP53_uc002gij.2_Frame_Shift_Ins_p.V97fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Ins_p.V58fs|TP53_uc010cnk.1_Frame_Shift_Ins_p.V112fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	97_98	Interaction with WWOX.		P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.P98S(4)|p.S99fs*48(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.V97A(1)|p.V97I(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCTGGGAAGGGACAGAAGATG	0.639		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C	7579396	-	C	7579395	7	5	93	1	0	1	1	0	0	0	0	0	16378	1232	43	0	1010	0	TP53	17	7579395	Frame_Shift_Ins	INS	-	TCGA-BR-8486-01A-31D-2394-08	3601864	7579395	73615815	45	59115	259	2									
TP53	7157	broad.mit.edu	37	chr17	7579396	7579397	+	Frame_Shift_Ins	INS	-	-	C													ggtaggttttctgggaagggINSacagaagatgacaggggcca							TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr17:7579395_7579396G>GC	uc002gim.2	-	3	485_486	c.291_292C>GC	c.(289-294)gtccctfs	p.V97fs	TP53_uc002gig.1_Frame_Shift_Ins_p.V97fs|TP53_uc002gih.3_Frame_Shift_Ins_p.V97fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Frame_Shift_Ins_p.V97fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.V97fs|TP53_uc002gij.2_Frame_Shift_Ins_p.V97fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Frame_Shift_Ins_p.V58fs|TP53_uc010cnk.1_Frame_Shift_Ins_p.V112fs	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	97	Interaction with WWOX.		V -> A (in a sporadic cancer; somatic mutation).|V -> F (in a sporadic cancer; somatic mutation).|V -> I (in familial cancer not matching LFS; germline mutation and in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P98S(8)|p.V97V(4)|p.S99fs*48(3)|p.Q100fs*37(3)|p.S96F(3)|p.G59fs*23(3)|p.P98L(3)|p.P98fs*26(2)|p.V73fs*9(1)|p.S96fs*53(1)|p.S96P(1)|p.V97A(1)|p.S96fs*52(1)|p.S96_V97insAAPAPAPSWPLSSS(1)|p.V97I(1)|p.W91fs*13(1)|p.S96C(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCTGGGAAGGGACAGAAGATG	0.639		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C	7579397	-	C	7579396	7	5	93	1	0	1	1	0	0	0	0	0	16378	1161	41	0	1011	0	TP53	17	7579396	Frame_Shift_Ins	INS	-	TCGA-BR-8486-01A-31D-2394-08	1	7579396	73615814	46	59116	259	2									
TNFRSF13B	23495	broad.mit.edu	37	chr17	16852283	16852283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacttgccttgctccttgcGgcagctgagtgaccctggga	13	12	0	2			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr17:16852283G>A	uc002gqs.1	-	3	227	c.214C>T	c.(214-216)CGC>TGC	p.R72C	TNFRSF13B_uc010vwt.1_RNA|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.R26C|TNFRSF13B_uc010vwu.1_Missense_Mutation_p.R72C	NM_012452	NP_036584	O14836	TR13B_HUMAN	tumor necrosis factor receptor 13B	72	Extracellular (Potential).|TNFR-Cys 2.				cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			kidney(2)	2						TGCTCCTTGCGGCAGCTGAGT	0.498									IgA_Deficiency_Selective				A	16852283	G	A	16852283	3	1	93	1	0	0	0	0	1	0	0	0	16284	1116	39	1	679	1	TNFRSF13B	17	16852283	Missense_Mutation	SNP	G	TCGA-BR-8486-01A-31D-2394-08	9272887	16852283	64342927	47	59117											
NEK8	284086	broad.mit.edu	37	chr17	27062001	27062001	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatctccaagatccttagCagcaagagcaaggcctacac	9	13	1	2			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr17:27062001C>T	uc002hcp.2	+	3	465	c.465C>T	c.(463-465)AGC>AGT	p.S155S		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	155	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					AGATCCTTAGCAGCAAGAGCA	0.582													T	27062001	C	T	27062001	2	4	93	1	0	0	0	0	0	0	0	1	10330	709	25	2		2	NEK8	17	27062001	Silent	SNP	C	TCGA-BR-8486-01A-31D-2394-08	10209718	27062001	54133209	48	59118											
FAM117A	81558	broad.mit.edu	37	chr17	47788765	47788765	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgggggaaggggagatcccGggtttgaggggcagttacgg	21	7	0	2	rs138923537		TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr17:47788765G>C	uc002ipk.2	-	8	1283	c.1214C>G	c.(1213-1215)CCG>CGG	p.P405R	FAM117A_uc010wlz.1_Missense_Mutation_p.P133R	NM_030802	NP_110429	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	405	Pro-rich.									ovary(1)	1						GGGAGATCCCGGGTTTGAGGG	0.647													C	47788765	G	C	47788765	3	2	93	1	0	0	0	0	1	0	0	0	5409	1116	39	5	151	5	FAM117A	17	47788765	Missense_Mutation	SNP	G	TCGA-BR-8486-01A-31D-2394-08	20726764	47788765	33406445	49	59119											
GMIP	51291	broad.mit.edu	37	chr19	19746378	19746378	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccagcccgtctcccaggTctgcagggagacagggtcag	13	14	4	1			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr19:19746378T>G	uc002nnd.2	-	15	1523	c.1406A>C	c.(1405-1407)GAC>GCC	p.D469A	GMIP_uc010xrb.1_Missense_Mutation_p.D443A|GMIP_uc010xrc.1_Missense_Mutation_p.D440A	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	469					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						GTCTCCCAGGTCTGCAGGGAG	0.552													G	19746378	T	G	19746378	3	3	93	1	0	0	0	0	1	0	0	0	6491	1681	58	5	1534	5	GMIP	19	19746378	Missense_Mutation	SNP	T	TCGA-BR-8486-01A-31D-2394-08		19746378	39382605	50	59120											
KCNB1	3745	broad.mit.edu	37	chr20	47990303	47990303	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagaatctggtggcctcaggGaagtctgtggcacagctaat	14	8	3	1			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr20:47990303G>A	uc002xur.1	-	2	1958	c.1794C>T	c.(1792-1794)TTC>TTT	p.F598F	KCNB1_uc002xus.1_Silent_p.F598F	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	598	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGGCCTCAGGGAAGTCTGTGG	0.592													A	47990303	G	A	47990303	2	1	93	1	0	0	0	0	0	0	0	1	8012	1165	41	4		4	KCNB1	20	47990303	Silent	SNP	G	TCGA-BR-8486-01A-31D-2394-08		47990303	15035217	51	59121											
KCNB1	3745	broad.mit.edu	37	chr20	47990462	47990462	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gctgctgactccttggtattGaggatgggttgggattgggt	17	5	0	2			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr20:47990462G>C	uc002xur.1	-	2	1799	c.1635C>G	c.(1633-1635)CTC>CTG	p.L545L	KCNB1_uc002xus.1_Silent_p.L545L	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	545	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCTTGGTATTGAGGATGGGTT	0.517													C	47990462	G	C	47990462	2	2	93	1	0	0	0	0	0	0	0	1	8012	1277	45	5		5	KCNB1	20	47990462	Silent	SNP	G	TCGA-BR-8486-01A-31D-2394-08	159	47990462	15035058	52	59122											
MYT1	4661	broad.mit.edu	37	chr20	62850293	62850293	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcgcaggacgccgaggctGcacacatggctgccactgcc	12	16	0	0			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr20:62850293G>T	uc002yii.2	+	12	2240	c.1876G>T	c.(1876-1878)GCA>TCA	p.A626S	MYT1_uc002yih.2_Missense_Mutation_p.A328S|MYT1_uc002yij.2_Missense_Mutation_p.A285S	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	626					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGCCGAGGCTGCACACATGGC	0.602													T	62850293	G	T	62850293	3	4	93	1	0	0	0	0	1	0	0	0	10106	1319	46	5	1914	5	MYT1	20	62850293	Missense_Mutation	SNP	G	TCGA-BR-8486-01A-31D-2394-08	14859831	62850293	175227	53	59123											
ARHGAP6	395	broad.mit.edu	37	chrX	11157185	11157185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttggcctccctggtccGtgggtgtctccacgccttcc	11	17	1	0			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chrX:11157185G>A	uc004cup.1	-	13	3596	c.2723C>T	c.(2722-2724)ACG>ATG	p.T908M	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cum.1_Missense_Mutation_p.T705M|ARHGAP6_uc004cun.1_Missense_Mutation_p.T728M	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	908					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			urinary_tract(1)|lung(1)	2						TCCCTGGTCCGTGGGTGTCTC	0.706													A	11157185	G	A	11157185	3	1	93	1	0	0	0	0	1	0	0	0	887	1145	40	1	205	1	ARHGAP6	23	11157185	Missense_Mutation	SNP	G	TCGA-BR-8486-01A-31D-2394-08		11157185	144113375	54	59124											
ATP6AP2	10159	broad.mit.edu	37	chrX	40450529	40450529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgggtaacctgtttcatcGtcctcgggctaccgtcatgg	12	11	2	0			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chrX:40450529G>A	uc004det.2	+	3	314	c.212G>A	c.(211-213)CGT>CAT	p.R71H	ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_5'UTR|ATP6AP2_uc011mkm.1_Missense_Mutation_p.R71H|ATP6AP2_uc011mkn.1_Missense_Mutation_p.R71H	NM_005765	NP_005756	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory	71	Extracellular (Potential).				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity				0						CTGTTTCATCGTCCTCGGGCT	0.493													A	40450529	G	A	40450529	3	1	93	1	0	0	0	0	1	0	0	0	1167	1145	40	1	222	1	ATP6AP2	23	40450529	Missense_Mutation	SNP	G	TCGA-BR-8486-01A-31D-2394-08	29293344	40450529	114820031	55	59125											
CHST7	56548	broad.mit.edu	37	chrX	46433919	46433919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgcgcgccccggacacgGccaatcttaccacggccgcc	11	20	1	0			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chrX:46433919G>A	uc004dgt.2	+	1	728	c.553G>A	c.(553-555)GCC>ACC	p.A185T		NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	chondroitin 6-sulfotransferase 7	185	Lumenal (Potential).				chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)	3						cccggACACGGCCAATCTTAC	0.562													A	46433919	G	A	46433919	3	1	93	1	0	0	0	0	1	0	0	0	3409	1203	42	2	555	2	CHST7	23	46433919	Missense_Mutation	SNP	G	TCGA-BR-8486-01A-31D-2394-08	5983390	46433919	108836641	56	59126											
HEPH	9843	broad.mit.edu	37	chrX	65392442	65392442	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacgagaaggactctgaagGtaaaccattccaccgtttct	8	11	2	2			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chrX:65392442G>A	uc011moz.1	+	3	481	c.421_splice	c.e3+1	p.G141_splice	HEPH_uc004dwn.2_Splice_Site_p.G141_splice|HEPH_uc004dwo.2_Splice_Site|HEPH_uc010nkr.2_Splice_Site_p.G141_splice|HEPH_uc011mpa.1_Splice_Site_p.G141_splice	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a						cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						GACTCTGAAGGTAAACCATTC	0.443													A	65392442	G	A	65392442	5	1	93	1	0	0	0	0	0	0	1	0	7054	1275	44	4	585	4	HEPH	23	65392442	Splice_Site	SNP	G	TCGA-BR-8486-01A-31D-2394-08	18958523	65392442	89878118	57	59127											
PCDH11X	27328	broad.mit.edu	37	chrX	91873740	91873740	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agtcagtttgcagcaaggttGggtgcaaggtgctgatgggc	17	6	1	1			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chrX:91873740G>C	uc004efk.1	+	7	4690	c.3845G>C	c.(3844-3846)TGG>TCG	p.W1282S	PCDH11X_uc004efl.1_Missense_Mutation_p.W1272S|PCDH11X_uc004efo.1_Missense_Mutation_p.W1245S|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.W1274S|PCDH11X_uc004efn.1_Missense_Mutation_p.W1264S	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1282	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						CAGCAAGGTTGGGTGCAAGGT	0.507													C	91873740	G	C	91873740	3	2	93	1	0	0	0	0	1	0	0	0	11508	1357	47	5	3993	5	PCDH11X	23	91873740	Missense_Mutation	SNP	G	TCGA-BR-8486-01A-31D-2394-08	26481298	91873740	63396820	58	59128											
PGRMC1	10857	broad.mit.edu	37	chrX	118370534	118370534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctctgccccgcctcaagCggcgcgacttcacccccgcc	8	24	3	0			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chrX:118370534C>T	uc004erb.2	+	1	324	c.208C>T	c.(208-210)CGG>TGG	p.R70W	PGRMC1_uc011mts.1_Missense_Mutation_p.R70W	NM_006667	NP_006658	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	70	Cytoplasmic (Potential).					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding				0						CCGCCTCAAGCGGCGCGACTT	0.687													T	118370534	C	T	118370534	3	4	93	1	0	0	0	0	1	0	0	0	11806	759	27	1	210	1	PGRMC1	23	118370534	Missense_Mutation	SNP	C	TCGA-BR-8486-01A-31D-2394-08	26496794	118370534	36900026	59	59129											
UPF3B	65109	broad.mit.edu	37	chrX	118972014	118972014	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgctctcatcttcaggTctgcatgaaaaacaaatctg	7	12	5	1			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chrX:118972014T>C	uc004erz.1	-	10	1085	c.1008A>G	c.(1006-1008)AGA>AGG	p.R336R	UPF3B_uc004esa.1_Silent_p.R323R	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	336	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(2)|kidney(1)	3						CATCTTCAGGTCTGCATGAAA	0.478													C	118972014	T	C	118972014	2	2	93	1	0	0	0	0	0	0	0	1	17003	1681	58	3		3	UPF3B	23	118972014	Silent	SNP	T	TCGA-BR-8486-01A-31D-2394-08	601480	118972014	36298546	60	59130											
ODZ1	10178	broad.mit.edu	37	chrX	123556374	123556374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgaatggggcgtcctgCgatgatccgaacacgcctgt	14	11	0	2			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chrX:123556374C>T	uc004euj.2	-	23	4262	c.4198G>A	c.(4198-4200)GCA>ACA	p.A1400T	ODZ1_uc011muj.1_Missense_Mutation_p.A1406T|ODZ1_uc010nqy.2_Missense_Mutation_p.A1407T	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1400	NHL 3.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						GGGCGTCCTGCGATGATCCGA	0.493													T	123556374	C	T	123556374	3	4	93	1	0	0	0	0	1	0	0	0	10834	768	27	1	4015	1	ODZ1	23	123556374	Missense_Mutation	SNP	C	TCGA-BR-8486-01A-31D-2394-08	4584360	123556374	31714186	61	59131											
GPC4	2239	broad.mit.edu	37	chrX	132548987	132548987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcgcgggcaagccgaaccGtgccatggtgcgggccgggg	19	12	0	0			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chrX:132548987G>A	uc004exc.1	-	1	219	c.7C>T	c.(7-9)CGG>TGG	p.R3W	GPC4_uc011mvg.1_5'Flank	NM_001448	NP_001439	O75487	GPC4_HUMAN	glypican 4 precursor	3					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	Acute lymphoblastic leukemia(192;0.000127)					AAGCCGAACCGTGCCATGGTG	0.701													A	132548987	G	A	132548987	3	1	93	1	0	0	0	0	1	0	0	0	6600	1144	40	1	1699	1	GPC4	23	132548987	Missense_Mutation	SNP	G	TCGA-BR-8486-01A-31D-2394-08	8992613	132548987	22721573	62	59132											
MTM1	4534	broad.mit.edu	37	chrX	149787547	149787547	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttcgctttgaaacaggaaGgccacagcagaagagatatg	13	7	0	3			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chrX:149787547G>T	uc004fef.3	+	6	455	c.379G>T	c.(379-381)GGC>TGC	p.G127C	MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.G90C|MTM1_uc011mxz.1_Missense_Mutation_p.G12C|MTM1_uc010nte.2_Intron	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	127					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GAAACAGGAAGGCCACAGCAG	0.468													T	149787547	G	T	149787547	3	4	93	1	0	0	0	0	1	0	0	0	9937	1000	35	5	397	5	MTM1	23	149787547	Missense_Mutation	SNP	G	TCGA-BR-8486-01A-31D-2394-08	17238560	149787547	5483013	63	59133											
SAMD11	148398	broad.mit.edu	37	chr1	879333	879333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacgtggccagcttccccGtggctctgccactgcagcca	10	17	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:879333G>A	uc001abw.1	+	14	1926	c.1846G>A	c.(1846-1848)GTG>ATG	p.V616M	SAMD11_uc001abx.1_Missense_Mutation_p.V479M	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	616						nucleus					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CAGCTTCCCCGTGGCTCTGCC	0.687													A	879333	G	A	879333	3	1	94	1	0	0	0	0	1	0	0	0	13816	1145	40	1	1896	1	SAMD11	1	879333	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08		879333	248371288	1	59134											
AGRN	375790	broad.mit.edu	37	chr1	980571	980571	+	Frame_Shift_Del	DEL	C	C	-													cgccccgctgccgcctgtggCccccttacactgtgcccaga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:980571delC	uc001ack.1	+	13	2335	c.2285delC	c.(2284-2286)GCCfs	p.A762fs		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	762					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCGCCTGTGGCCCCCTTACAC	0.672													-	980571	C	-	980571	7	5	94	1	0	1	0	1	0	0	0	0	397	739	26	0	2335	0	AGRN	1	980571	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	101238	980571	248270050	2	59135											
AGRN	375790	broad.mit.edu	37	chr1	984699	984699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccgcctggagctgtcccGgcactggcgccggggcaccc	15	18	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:984699G>A	uc001ack.1	+	25	4432	c.4382G>A	c.(4381-4383)CGG>CAG	p.R1461Q		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	1461	Laminin G-like 1.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GAGCTGTCCCGGCACTGGCGC	0.687													A	984699	G	A	984699	3	1	94	1	0	0	0	0	1	0	0	0	397	1116	39	1	4480	1	AGRN	1	984699	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4128	984699	248265922	3	59136											
SDF4	51150	broad.mit.edu	37	chr1	1164062	1164062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggacgagtggttggcagGccgtgcagacgcgtccatca	16	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:1164062G>A	uc001adh.3	-	2	441	c.112C>T	c.(112-114)CCT>TCT	p.P38S	SDF4_uc001adi.3_Missense_Mutation_p.P38S|SDF4_uc009vjv.2_Intron|SDF4_uc009vjw.2_RNA	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4 isoform 2	38					cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|calcium ion binding|identical protein binding|protein binding			upper_aerodigestive_tract(1)|large_intestine(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		TGGTTGGCAGGCCGTGCAGAC	0.647													A	1164062	G	A	1164062	3	1	94	1	0	0	0	0	1	0	0	0	13962	1203	42	2	1116	2	SDF4	1	1164062	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	179363	1164062	248086559	4	59137											
SCNN1D	6339	broad.mit.edu	37	chr1	1222558	1222558	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcggctgtccaggactggTaccacttccactatgtggat	12	11	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:1222558T>C	uc001adu.1	+	8	1321	c.697T>C	c.(697-699)TAC>CAC	p.Y233H	SCNN1D_uc001adt.1_Missense_Mutation_p.Y397H|SCNN1D_uc001adw.2_Missense_Mutation_p.Y299H|SCNN1D_uc001adx.2_5'UTR|SCNN1D_uc001adv.2_Missense_Mutation_p.Y233H	NM_002978	NP_002969			sodium channel, nonvoltage-gated 1, delta												0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CCAGGACTGGTACCACTTCCA	0.642													C	1222558	T	C	1222558	3	2	94	1	0	0	0	0	1	0	0	0	13929	1638	57	3	917	3	SCNN1D	1	1222558	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	58496	1222558	248028063	5	59138											
TAS1R3	83756	broad.mit.edu	37	chr1	1266835	1266836	+	Frame_Shift_Ins	INS	-	-	G													atgaagggggactacgtgctINSgggggggctgttccccctgg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:1266835_1266836insG	uc010nyk.1	+	1	110_111	c.110_111insG	c.(109-111)CTGfs	p.L37fs		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	37	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GACTACGTGCTGGGGGGGCTGT	0.693													G	1266836	-	G	1266835	7	5	94	1	0	1	1	0	0	0	0	0	15561	1580	55	0	112	0	TAS1R3	1	1266835	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	44277	1266835	247983786	6	59139	260	2									
TAS1R3	83756	broad.mit.edu	37	chr1	1266836	1266837	+	Frame_Shift_Ins	INS	-	-	G													tgaagggggactacgtgctgINSggggggctgttccccctggg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:1266835_1266836T>TG	uc010nyk.2	+	0	110_111	c.110_111T>TG	c.(109-111)ctgfs	p.L37fs		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA.	37					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GACTACGTGCTGGGGGGGCTGT	0.693													G	1266837	-	G	1266836	7	5	94	1	0	1	1	0	0	0	0	0	15561	1335	47	0	113	0	TAS1R3	1	1266836	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	1266836	247983785	7	59140	260	2									
DVL1	1855	broad.mit.edu	37	chr1	1273478	1273478	+	Frame_Shift_Del	DEL	G	G	-													tagccctgacccagaggccaGggggcagccgggtggggcag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:1273478delG	uc001aer.3	-	14	1565	c.1518delC	c.(1516-1518)CCCfs	p.P506fs	DVL1_uc002quu.2_Frame_Shift_Del_p.P248fs|DVL1_uc009vka.2_Frame_Shift_Del_p.P189fs|DVL1_uc001aeu.1_Frame_Shift_Del_p.P265fs	NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	531					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCAGAGGCCAGGGGGCAGCCG	0.692													-	1273478	G	-	1273478	7	5	94	1	0	1	0	1	0	0	0	0	4835	987	35	0	502	0	DVL1	1	1273478	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	6642	1273478	247977143	8	59141											
VWA1	64856	broad.mit.edu	37	chr1	1374664	1374664	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctcgacccggacacggacTacgacgtggcgctagtgcct	13	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:1374664T>C	uc001afs.2	+	3	1055	c.835T>C	c.(835-837)TAC>CAC	p.Y279H	VWA1_uc001afr.2_Missense_Mutation_p.Y67H	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	279	Fibronectin type-III 1.					basement membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGACACGGACTACGACGTGGC	0.736													C	1374664	T	C	1374664	3	2	94	1	0	0	0	0	1	0	0	0	17235	1522	53	3	845	3	VWA1	1	1374664	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	101186	1374664	247875957	9	59142											
GNB1	2782	broad.mit.edu	37	chr1	1721996	1721996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccagtgtgtccggtaaaCgtggtcgtctgctggccggt	14	11	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:1721996C>T	uc001aif.2	-	9	869	c.537G>A	c.(535-537)ACG>ACA	p.T179T	GNB1_uc009vky.2_Silent_p.T79T	NM_002074	NP_002065	P62873	GBB1_HUMAN	guanine nucleotide-binding protein, beta-1	179					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GTCCGGTAAACGTGGTCGTCT	0.547													T	1721996	C	T	1721996	2	4	94	1	0	0	0	0	0	0	0	1	6515	523	19	1		1	GNB1	1	1721996	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	347332	1721996	247528625	10	59143											
KIAA1751	85452	broad.mit.edu	37	chr1	1902126	1902126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctccagctcctggcgccGgcgctggtggacaaggtgcc	16	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:1902126G>A	uc001aim.1	-	10	1174	c.1018C>T	c.(1018-1020)CGG>TGG	p.R340W	KIAA1751_uc009vkz.1_Missense_Mutation_p.R340W	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	340	Potential.									pancreas(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TCCTGGCGCCGGCGCTGGTGG	0.682													A	1902126	G	A	1902126	3	1	94	1	0	0	0	0	1	0	0	0	8256	1115	39	1	1306	1	KIAA1751	1	1902126	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	180130	1902126	247348495	11	59144											
GABRD	2563	broad.mit.edu	37	chr1	1961127	1961127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccgccctggtggagtacGcctttgctcatttcaacgcc	10	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:1961127G>A	uc001aip.2	+	8	1080	c.985G>A	c.(985-987)GCC>ACC	p.A329T		NM_000815	NP_000806	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	329	Helical; (Probable).					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GGTGGAGTACGCCTTTGCTCA	0.612													A	1961127	G	A	1961127	3	1	94	1	0	0	0	0	1	0	0	0	6169	1087	38	1	1015	1	GABRD	1	1961127	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	59001	1961127	247289494	12	59145											
SKI	6497	broad.mit.edu	37	chr1	2161173	2161173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacaagcggcgggtgccccGggtgagtggccccaggcctg	18	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:2161173G>A	uc001aja.3	+	1	1040	c.968G>A	c.(967-969)CGG>CAG	p.R323Q		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	323					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CGGGTGCCCCGGGTGAGTGGC	0.657													A	2161173	G	A	2161173	3	1	94	1	0	0	0	0	1	0	0	0	14357	1130	39	1	970	1	SKI	1	2161173	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	200046	2161173	247089448	13	59146											
SKI	6497	broad.mit.edu	37	chr1	2234791	2234791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcccccgcagtgtcagCgagtgagaaagagctctccc	12	14	2	2	rs75280988	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:2234791C>T	uc001aja.3	+	3	1235	c.1163C>T	c.(1162-1164)GCG>GTG	p.A388V		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	388					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GCAGTGTCAGCGAGTGAGAAA	0.617													T	2234791	C	T	2234791	3	4	94	1	0	0	0	0	1	0	0	0	14357	768	27	1	1173	1	SKI	1	2234791	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	73618	2234791	247015830	14	59147											
PLCH2	9651	broad.mit.edu	37	chr1	2419116	2419116	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaagatcctcttcaaagaCgtcattgaaaccatcaacaa	4	12	4	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:2419116C>T	uc001aji.1	+	8	1468	c.1194C>T	c.(1192-1194)GAC>GAT	p.D398D	PLCH2_uc010nyz.1_Silent_p.D186D|PLCH2_uc009vle.1_Silent_p.D186D|PLCH2_uc001ajj.1_Silent_p.D186D|PLCH2_uc001ajk.1_Silent_p.D186D	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	398	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TCTTCAAAGACGTCATTGAAA	0.592													T	2419116	C	T	2419116	2	4	94	1	0	0	0	0	0	0	0	1	12038	535	19	1		1	PLCH2	1	2419116	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	184325	2419116	246831505	15	59148											
PRDM16	63976	broad.mit.edu	37	chr1	3328550	3328550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgaagaccaggagcagcGacatgtcggacggcagtgac	15	10	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:3328550G>A	uc001akf.2	+	9	1869	c.1789G>A	c.(1789-1791)GAC>AAC	p.D597N	PRDM16_uc001akc.2_Missense_Mutation_p.D597N|PRDM16_uc001akd.2_Missense_Mutation_p.D597N|PRDM16_uc001ake.2_Missense_Mutation_p.D597N|PRDM16_uc009vlh.2_Missense_Mutation_p.D298N	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	597					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CAGGAGCAGCGACATGTCGGA	0.657			T	EVI1	MDS|AML								A	3328550	G	A	3328550	3	1	94	1	0	0	0	0	1	0	0	0	12457	1058	37	1	1823	1	PRDM16	1	3328550	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	909434	3328550	245922071	16	59149											
PRDM16	63976	broad.mit.edu	37	chr1	3328729	3328729	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggcggcttggcgcccccGggggccccgaacagcgtggc	20	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:3328729G>A	uc001akf.2	+	9	2048	c.1968G>A	c.(1966-1968)CCG>CCA	p.P656P	PRDM16_uc001akc.2_Silent_p.P656P|PRDM16_uc001akd.2_Silent_p.P656P|PRDM16_uc001ake.2_Silent_p.P656P|PRDM16_uc009vlh.2_Silent_p.P357P	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	656					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGGCGCCCCCGGGGGCCCCGA	0.692			T	EVI1	MDS|AML								A	3328729	G	A	3328729	2	1	94	1	0	0	0	0	0	0	0	1	12457	1103	39	1		1	PRDM16	1	3328729	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	179	3328729	245921892	17	59150											
PRDM16	63976	broad.mit.edu	37	chr1	3328745	3328745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgggggccccgaacagcGtggccgaggtgcctgtcttc	15	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:3328745G>A	uc001akf.2	+	9	2064	c.1984G>A	c.(1984-1986)GTG>ATG	p.V662M	PRDM16_uc001akc.2_Missense_Mutation_p.V662M|PRDM16_uc001akd.2_Missense_Mutation_p.V662M|PRDM16_uc001ake.2_Missense_Mutation_p.V662M|PRDM16_uc009vlh.2_Missense_Mutation_p.V363M	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	662					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCCGAACAGCGTGGCCGAGGT	0.687			T	EVI1	MDS|AML								A	3328745	G	A	3328745	3	1	94	1	0	0	0	0	1	0	0	0	12457	1145	40	1	2018	1	PRDM16	1	3328745	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	16	3328745	245921876	18	59151											
PRDM16	63976	broad.mit.edu	37	chr1	3342191	3342191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatctcttcgaacctccagCggcacgtccggaacatccac	8	17	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:3342191C>T	uc001akf.2	+	13	3066	c.2986C>T	c.(2986-2988)CGG>TGG	p.R996W	PRDM16_uc001akc.2_Missense_Mutation_p.R995W|PRDM16_uc001akd.2_Missense_Mutation_p.R995W|PRDM16_uc001ake.2_Missense_Mutation_p.R996W|PRDM16_uc009vlh.2_Missense_Mutation_p.R696W	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	996	C2H2-type 9.|Mediates interaction with SKI and regulation of TGF-beta signaling.|Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GAACCTCCAGCGGCACGTCCG	0.617			T	EVI1	MDS|AML								T	3342191	C	T	3342191	3	4	94	1	0	0	0	0	1	0	0	0	12457	759	27	1	3036	1	PRDM16	1	3342191	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	13446	3342191	245908430	19	59152											
ARHGEF16	27237	broad.mit.edu	37	chr1	3391302	3391302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaagacccagggccactccGaaaggtacaaggctgccagc	11	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:3391302G>A	uc001akg.3	+	9	1584	c.1336G>A	c.(1336-1338)GAA>AAA	p.E446K	ARHGEF16_uc001aki.2_Missense_Mutation_p.E158K|ARHGEF16_uc001akj.2_Missense_Mutation_p.E158K|ARHGEF16_uc010nzh.1_Missense_Mutation_p.E150K	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	446	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGGCCACTCCGAAAGGTACAA	0.632													A	3391302	G	A	3391302	3	1	94	1	0	0	0	0	1	0	0	0	899	1059	37	1	1366	1	ARHGEF16	1	3391302	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	49111	3391302	245859319	20	59153											
ZBTB48	3104	broad.mit.edu	37	chr1	6649173	6649173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctggcctcccagctcccCggccagagactgtgtgcaga	13	16	0	2	rs1804904	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:6649173C>T	uc009vmc.1	+	11	2091	c.1968C>T	c.(1966-1968)CCC>CCT	p.P656P	ZBTB48_uc001anx.2_Silent_p.P656P|ZBTB48_uc009vmd.1_Silent_p.P656P|ZBTB48_uc001any.1_Silent_p.P294P	NM_005341	NP_005332	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	656						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		CCCAGCTCCCCGGCCAGAGAC	0.677													T	6649173	C	T	6649173	2	4	94	1	0	0	0	0	0	0	0	1	17546	639	23	1		1	ZBTB48	1	6649173	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3257871	6649173	242601448	21	59154											
KLHL21	9903	broad.mit.edu	37	chr1	6653683	6653683	+	Frame_Shift_Del	DEL	C	C	-													cccccagagacgtacagcttCcccccaaggacggccaggct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:6653682_6653682TC>T	uc001aoa.3	-	3	1589	c.1537_1537GA>A	c.(1537-1539)aagfs	p.K513fs	KLHL21_uc001anz.1_3'UTR|KLHL21_uc009vme.3_Frame_Shift_Del_p.K146fs	NM_014851	NP_055666	Q9UJP4	KLH21_HUMAN	Homo sapiens kelch-like 21 (Drosophila) (KLHL21), mRNA.	513					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		ACGTACAGCTTCCCCCCAAGG	0.632													-	6653683	C	-	6653683	7	5	94	1	0	1	0	1	0	0	0	0	8376	842	30	0	261	0	KLHL21	1	6653683	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	4510	6653683	242596938	22	59155											
THAP3	90326	broad.mit.edu	37	chr1	6692469	6692469	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggtcctccctgaggcggggGccggagaggacagtcctggg	19	11	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:6692469G>C	uc001aoc.2	+	5	511	c.352G>C	c.(352-354)GCC>CCC	p.A118P	THAP3_uc001aod.2_Missense_Mutation_p.A117P|THAP3_uc001aoe.1_Missense_Mutation_p.A125P			Q8WTV1	THAP3_HUMAN	RecName: Full=THAP domain-containing protein 3;	118							DNA binding|metal ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGAGGCGGGGGCCGGAGAGGA	0.597													C	6692469	G	C	6692469	3	2	94	1	0	0	0	0	1	0	0	0	15842	1203	42	5	387	5	THAP3	1	6692469	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	38786	6692469	242558152	23	59156											
RERE	473	broad.mit.edu	37	chr1	8415652	8415652	+	Frame_Shift_Del	DEL	G	G	-													ccaggcaggtcacgggggtaGggggtgcctgccgaacacaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:8415652delG	uc001ape.2	-	23	5304	c.4494delC	c.(4492-4494)CCCfs	p.P1498fs	RERE_uc001apf.2_Frame_Shift_Del_p.P1498fs|RERE_uc001apd.2_Frame_Shift_Del_p.P944fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1498	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1498L(1)		ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CACGGGGGTAGGGGGTGCCTG	0.642													-	8415652	G	-	8415652	7	5	94	1	0	1	0	1	0	0	0	0	13231	987	35	0	214	0	RERE	1	8415652	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	1723183	8415652	240834969	24	59157											
H6PD	9563	broad.mit.edu	37	chr1	9305037	9305037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtgcttggcccttctggGctgcctgcaagcccaggagc	14	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:9305037G>A	uc001apt.2	+	2	317	c.44G>A	c.(43-45)GGC>GAC	p.G15D		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	15						endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding				0	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GCCCTTCTGGGCTGCCTGCAA	0.557													A	9305037	G	A	9305037	3	1	94	1	0	0	0	0	1	0	0	0	6936	1203	42	2	46	2	H6PD	1	9305037	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	889385	9305037	239945584	25	59158											
UBE4B	10277	broad.mit.edu	37	chr1	10238793	10238793	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaatagaaaaatttaagcTgctcgccgagaaagtggagg	12	6	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:10238793T>G	uc001aqs.3	+	26	4330	c.3617T>G	c.(3616-3618)CTG>CGG	p.L1206R	UBE4B_uc001aqr.3_Missense_Mutation_p.L1077R|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.L661R|UBE4B_uc001aqu.2_Missense_Mutation_p.L87R	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	1206					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		AAATTTAAGCTGCTCGCCGAG	0.468													G	10238793	T	G	10238793	3	3	94	1	0	0	0	0	1	0	0	0	16880	1580	55	5	3719	5	UBE4B	1	10238793	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	933756	10238793	239011828	26	59159											
PGD	5226	broad.mit.edu	37	chr1	10460577	10460577	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagaagccccggcggaTcatcctcctggtgaaggctg	14	12	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:10460577T>A	uc001arc.2	+	3	302	c.212T>A	c.(211-213)ATC>AAC	p.I71N	PGD_uc001ard.2_5'UTR|PGD_uc010oak.1_Missense_Mutation_p.I71N|PGD_uc010oal.1_Missense_Mutation_p.I58N	NM_002631	NP_002622	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	71					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			ovary(1)	1	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CCCCGGCGGATCATCCTCCTG	0.522													A	10460577	T	A	10460577	3	1	94	1	0	0	0	0	1	0	0	0	11787	1435	50	5	222	5	PGD	1	10460577	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	221784	10460577	238790044	27	59160											
CASZ1	54897	broad.mit.edu	37	chr1	10713537	10713537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctctccatgatggaggcGggtggtgccgggacagaggc	17	10	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:10713537G>A	uc001aro.2	-	11	2897	c.2577C>T	c.(2575-2577)CCC>CCT	p.P859P	CASZ1_uc001arp.1_Silent_p.P859P|CASZ1_uc009vmx.2_Silent_p.P883P	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	859					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGATGGAGGCGGGTGGTGCCG	0.672													A	10713537	G	A	10713537	2	1	94	1	0	0	0	0	0	0	0	1	2685	1103	39	1		1	CASZ1	1	10713537	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	252960	10713537	238537084	28	59161											
MASP2	10747	broad.mit.edu	37	chr1	11107023	11107023	+	Frame_Shift_Del	DEL	G	G	-													tagaggcgcaggcggtagccGgggggtgcagtcagggtcca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:11107023delG	uc001aru.2	-	2	180	c.159delC	c.(157-159)CCCfs	p.P53fs	MASP2_uc001arv.2_Frame_Shift_Del_p.P53fs|MASP2_uc001arw.2_Frame_Shift_Del_p.P53fs|MASP2_uc001arx.1_Frame_Shift_Del_p.P53fs	NM_006610	NP_006601	O00187	MASP2_HUMAN	mannan-binding lectin serine protease 2 isoform	53	CUB 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GGCGGTAGCCGGGGGGTGCAG	0.662													-	11107023	G	-	11107023	7	5	94	1	0	1	0	1	0	0	0	0	9323	1103	39	0	1959	0	MASP2	1	11107023	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	393486	11107023	238143598	29	59162											
EXOSC10	5394	broad.mit.edu	37	chr1	11148189	11148189	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggtactaacctggggttgTggcttttgaagcactgcatc	13	8	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:11148189T>C	uc001asa.2	-	7	875	c.825A>G	c.(823-825)CCA>CCG	p.P275P	EXOSC10_uc001asb.2_Silent_p.P275P|EXOSC10_uc009vmy.1_Silent_p.P275P	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	exosome component 10 isoform 1	275					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			upper_aerodigestive_tract(1)	1	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CCTGGGGTTGTGGCTTTTGAA	0.388													C	11148189	T	C	11148189	2	2	94	1	0	0	0	0	0	0	0	1	5314	1683	59	3		3	EXOSC10	1	11148189	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	41166	11148189	238102432	30	59163											
MTOR	2475	broad.mit.edu	37	chr1	11291365	11291365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtcccctacctctctgcGtgtaccctggttctgctcag	8	17	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:11291365G>A	uc001asd.2	-	17	2762	c.2641C>T	c.(2641-2643)CGC>TGC	p.R881C		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	881	HEAT 3.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						ACCTCTCTGCGTGTACCCTGG	0.502													A	11291365	G	A	11291365	3	1	94	1	0	0	0	0	1	0	0	0	9954	1145	40	1	5176	1	MTOR	1	11291365	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	143176	11291365	237959256	31	59164											
MTOR	2475	broad.mit.edu	37	chr1	11297944	11297944	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcatgacaaaggcagggtTcatgctactgagtcggccca	13	10	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:11297944T>C	uc001asd.2	-	13	2285	c.2164A>G	c.(2164-2166)AAC>GAC	p.N722D		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	722					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						AAGGCAGGGTTCATGCTACTG	0.577													C	11297944	T	C	11297944	3	2	94	1	0	0	0	0	1	0	0	0	9954	1783	62	3	5669	3	MTOR	1	11297944	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	6579	11297944	237952677	32	59165											
MTHFR	4524	broad.mit.edu	37	chr1	11860308	11860308	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtcaccaaactcacttcGgatgtgcttcaccaggtcca	8	13	3	0	rs121434294		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:11860308G>A	uc001atc.1	-	4	731	c.547C>T	c.(547-549)CGA>TGA	p.R183*	MTHFR_uc001atb.1_Nonsense_Mutation_p.R206*	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	183					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	AACTCACTTCGGATGTGCTTC	0.562													A	11860308	G	A	11860308	4	1	94	1	0	0	0	0	0	1	0	0	9931	1124	39	1	1459	1	MTHFR	1	11860308	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	562364	11860308	237390313	33	59166											
MTHFR	4524	broad.mit.edu	37	chr1	11861228	11861228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccacacctccccgcagCgccatgatgttcttcaggcc	9	18	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:11861228C>T	uc001atc.1	-	3	649	c.465G>A	c.(463-465)GCG>GCA	p.A155A	MTHFR_uc001atb.1_Silent_p.A178A	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	155					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	CTCCCCGCAGCGCCATGATGT	0.587													T	11861228	C	T	11861228	2	4	94	1	0	0	0	0	0	0	0	1	9931	755	27	1		1	MTHFR	1	11861228	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	920	11861228	237389393	34	59167											
VPS13D	55187	broad.mit.edu	37	chr1	12322018	12322018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatgaacacgtatacaaagcGagatcatgtctttgccaaac	7	9	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:12322018G>A	uc001atv.2	+	13	1616	c.1475G>A	c.(1474-1476)CGA>CAA	p.R492Q	VPS13D_uc001atw.2_Missense_Mutation_p.R492Q	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	492					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TATACAAAGCGAGATCATGTC	0.438													A	12322018	G	A	12322018	3	1	94	1	0	0	0	0	1	0	0	0	17189	1058	37	1	1521	1	VPS13D	1	12322018	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	460790	12322018	236928603	35	59168											
PRDM2	7799	broad.mit.edu	37	chr1	14105804	14105804	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacggcatcagcgtagagTtcacgaacgtcatctgattc	11	10	4	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:14105804T>C	uc001avi.2	+	8	2370	c.1514T>C	c.(1513-1515)GTT>GCT	p.V505A	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.V505A|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.V262A|PRDM2_uc001avk.2_Missense_Mutation_p.V304A|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	505	C2H2-type 3.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CAGCGTAGAGTTCACGAACGT	0.478													C	14105804	T	C	14105804	3	2	94	1	0	0	0	0	1	0	0	0	12458	1725	60	3	1540	3	PRDM2	1	14105804	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1783786	14105804	235144817	36	59169											
PRDM2	7799	broad.mit.edu	37	chr1	14105890	14105890	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagaacaggcccaggccAcccagaacgtgtatgtacca	10	14	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:14105890A>G	uc001avi.2	+	8	2456	c.1600A>G	c.(1600-1602)ACC>GCC	p.T534A	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.T534A|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.T291A|PRDM2_uc001avk.2_Missense_Mutation_p.T333A|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	534				TQNVYVPSTEPEEEGEA -> PRTCMYQAQSRRGRGSR (in Ref. 4; AAA87023).		Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GGCCCAGGCCACCCAGAACGT	0.512													G	14105890	A	G	14105890	3	3	94	1	0	0	0	0	1	0	0	0	12458	159	6	3	1626	3	PRDM2	1	14105890	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	86	14105890	235144731	37	59170											
PRDM2	7799	broad.mit.edu	37	chr1	14108082	14108082	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaggagttaaatgaTtcctctgaagagctttacac	10	6	1	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:14108082T>C	uc001avi.2	+	8	4648	c.3792T>C	c.(3790-3792)GAT>GAC	p.D1264D	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.D1264D|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.D1063D|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1264						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGTTAAATGATTCCTCTGAAG	0.413													C	14108082	T	C	14108082	2	2	94	1	0	0	0	0	0	0	0	1	12458	1490	52	3		3	PRDM2	1	14108082	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2192	14108082	235142539	38	59171											
DNAJC16	23341	broad.mit.edu	37	chr1	15863138	15863138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccttttaattctgaacggCgggactcaattgacgaaaag	9	9	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:15863138C>T	uc001aws.2	+	4	523	c.403C>T	c.(403-405)CGG>TGG	p.R135W	DNAJC16_uc001awr.1_Missense_Mutation_p.R135W|DNAJC16_uc001awt.2_5'UTR	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	135	Cytoplasmic (Potential).|Thioredoxin.				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			urinary_tract(1)|lung(1)|kidney(1)	3		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TTCTGAACGGCGGGACTCAAT	0.398													T	15863138	C	T	15863138	3	4	94	1	0	0	0	0	1	0	0	0	4635	759	27	1	413	1	DNAJC16	1	15863138	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1755056	15863138	233387483	39	59172											
AGMAT	79814	broad.mit.edu	37	chr1	15909692	15909692	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagactgacattacccaaGgtcagaggaatacagccagc	10	11	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:15909692G>T	uc001awv.1	-	2	614	c.471C>A	c.(469-471)ACC>ACA	p.T157T	DNAJC16_uc001awu.2_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase) precursor	157					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			skin(1)	1		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		CATTACCCAAGGTCAGAGGAA	0.488													T	15909692	G	T	15909692	2	4	94	1	0	0	0	0	0	0	0	1	385	987	35	5		5	AGMAT	1	15909692	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	46554	15909692	233340929	40	59173											
PLEKHM2	23207	broad.mit.edu	37	chr1	16054066	16054066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctagtagccctgaggctgCtggccaagaagaagagggag	15	9	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:16054066C>T	uc010obo.1	+	9	1726	c.1499C>T	c.(1498-1500)GCT>GTT	p.A500V		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	500					Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CCTGAGGCTGCTGGCCAAGAA	0.622													T	16054066	C	T	16054066	3	4	94	1	0	0	0	0	1	0	0	0	12081	797	28	2	1533	2	PLEKHM2	1	16054066	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	144374	16054066	233196555	41	59174											
SPEN	23013	broad.mit.edu	37	chr1	16248846	16248846	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgttagccgaaagaaggTatgtattttaaacttaccag	8	5	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:16248846T>C	uc001axk.1	+	10	2054	c.1850_splice	c.e10+2	p.R617_splice	SPEN_uc010obp.1_Splice_Site_p.R576_splice	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator						interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGAAAGAAGGTATGTATTTTA	0.244													C	16248846	T	C	16248846	5	2	94	1	0	0	0	0	0	0	1	0	15037	1652	57	3	1890	3	SPEN	1	16248846	Splice_Site	SNP	T	TCGA-BR-8487-01A-11D-2394-08	194780	16248846	233001775	42	59175											
SPEN	23013	broad.mit.edu	37	chr1	16259759	16259759	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacccgatcacgccgcaagCgaaacacaaacaagaaagtg	8	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:16259759C>T	uc001axk.1	+	11	7228	c.7024C>T	c.(7024-7026)CGA>TGA	p.R2342*	SPEN_uc010obp.1_Nonsense_Mutation_p.R2301*	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2342	RID.|Interaction with MSX2 (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACGCCGCAAGCGAAACACAAA	0.512													T	16259759	C	T	16259759	4	4	94	1	0	0	0	0	0	1	0	0	15037	760	27	1	7066	1	SPEN	1	16259759	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	10913	16259759	232990862	43	59176											
SPEN	23013	broad.mit.edu	37	chr1	16262482	16262482	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacccccacccctgccccCgtccctgtccctgtccccct	4	28	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:16262482C>T	uc001axk.1	+	11	9951	c.9747C>T	c.(9745-9747)CCC>CCT	p.P3249P	SPEN_uc010obp.1_Silent_p.P3208P	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3249	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		cccctgcccccgtccctgtcc	0.408													T	16262482	C	T	16262482	2	4	94	1	0	0	0	0	0	0	0	1	15037	639	23	1		1	SPEN	1	16262482	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2723	16262482	232988139	44	59177											
SPEN	23013	broad.mit.edu	37	chr1	16264140	16264140	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatatggttcaacttctgaaGgtaagcatgagcaggggctg	14	6	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:16264140G>T	uc001axk.1	+	12	10713	c.10509G>T	c.(10507-10509)AAG>AAT	p.K3503N	SPEN_uc010obp.1_Missense_Mutation_p.K3462N	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3503	SPOC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AACTTCTGAAGGTAAGCATGA	0.517													T	16264140	G	T	16264140	3	4	94	1	0	0	0	0	1	0	0	0	15037	1014	35	5	10555	5	SPEN	1	16264140	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1658	16264140	232986481	45	59178											
HSPB7	27129	broad.mit.edu	37	chr1	16343700	16343700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgcctgccccaccggggcGggctgtgggatgggctgctg	19	12	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:16343700G>A	uc001axo.2	-	2	1029	c.202C>T	c.(202-204)CGC>TGC	p.R68C	HSPB7_uc001axp.2_Missense_Mutation_p.R156C|HSPB7_uc001axq.2_Missense_Mutation_p.R160C|HSPB7_uc001axr.2_Missense_Mutation_p.R161C|HSPB7_uc001axs.2_Missense_Mutation_p.R143C|CLCNKA_uc001axt.2_5'Flank	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN	cardiovascular heat shock protein	68	Required for localization to SC35 splicing speckles.				regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding				0		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCGGGGCGGGCTGTGGGA	0.622													A	16343700	G	A	16343700	3	1	94	1	0	0	0	0	1	0	0	0	7422	1116	39	1	318	1	HSPB7	1	16343700	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	79560	16343700	232906921	46	59179											
HSPB7	27129	broad.mit.edu	37	chr1	16344393	16344393	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggtggaagaggaGgaggaagaggaagaggaatg	23	0	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:16344393G>T	uc001axo.2	-	1	893	c.66C>A	c.(64-66)TCC>TCA	p.S22S	HSPB7_uc001axp.2_Silent_p.S110S|HSPB7_uc001axq.2_Silent_p.S110S|HSPB7_uc001axr.2_Silent_p.S110S|HSPB7_uc001axs.2_Intron|CLCNKA_uc001axt.2_5'Flank	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN	cardiovascular heat shock protein	22	Required for localization to SC35 splicing speckles.|Poly-Ser.				regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding				0		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		tggaagaggaggaggaagagg	0.527													T	16344393	G	T	16344393	2	4	94	1	0	0	0	0	0	0	0	1	7422	987	35	5		5	HSPB7	1	16344393	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	693	16344393	232906228	47	59180											
EPHA2	1969	broad.mit.edu	37	chr1	16459687	16459687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctcacatttggagatgaCgccctctaggcggatgatgt	12	10	2	3	rs140398645		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:16459687C>T	uc001aya.1	-	11	2178	c.2041G>A	c.(2041-2043)GTC>ATC	p.V681I		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	681	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TTGGAGATGACGCCCTCTAGG	0.617													T	16459687	C	T	16459687	3	4	94	1	0	0	0	0	1	0	0	0	5167	536	19	1	917	1	EPHA2	1	16459687	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	115294	16459687	232790934	48	59181											
C1orf89	79363	broad.mit.edu	37	chr1	16558726	16558726	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacccgtagcaggggcagCtcccaggcctgccggaaggc	14	15	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:16558726C>T	uc001ayd.2	-	5	1016	c.594G>A	c.(592-594)GAG>GAA	p.E198E		NM_030907	NP_112169	Q9BU20	RSG1_HUMAN	hypothetical protein LOC79363	198	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding				0		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.2e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGGGCAGCTCCCAGGCCT	0.672													T	16558726	C	T	16558726	2	4	94	1	0	0	0	0	0	0	0	1	2066	796	28	2		2	C1orf89	1	16558726	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	99039	16558726	232691895	49	59182											
C1orf144	26099	broad.mit.edu	37	chr1	16719757	16719757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcccaaagtgcccattGtgattcaggacgatagcctt	8	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:16719757G>A	uc001aym.3	+	3	306	c.136G>A	c.(136-138)GTG>ATG	p.V46M	C1orf144_uc010ocb.1_Missense_Mutation_p.V26M|C1orf144_uc001ayi.3_Missense_Mutation_p.V27M|C1orf144_uc001ayk.3_Missense_Mutation_p.V26M	NM_001114600	NP_001108072	Q7Z422	CA144_HUMAN	putative MAPK activating protein PM20,PM21	46											0		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.12e-05)|Kidney(64;0.00018)|KIRC - Kidney renal clear cell carcinoma(64;0.00267)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGCCCATTGTGATTCAGGA	0.567													A	16719757	G	A	16719757	3	1	94	1	0	0	0	0	1	0	0	0	2002	1377	48	4	146	4	C1orf144	1	16719757	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	161031	16719757	232530864	50	59183											
CROCC	9696	broad.mit.edu	37	chr1	17250898	17250898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagcaggagctgtcccGcgtggaggacctgctggccc	16	14	0	0	rs146983726	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:17250898G>A	uc001azt.2	+	3	344	c.275G>A	c.(274-276)CGC>CAC	p.R92H	CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Intron	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	92	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GAGCTGTCCCGCGTGGAGGAC	0.662													A	17250898	G	A	17250898	3	1	94	1	0	0	0	0	1	0	0	0	3893	1087	38	1	285	1	CROCC	1	17250898	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	531141	17250898	231999723	51	59184											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17949635	17949635	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgtggctgagtgggatTccaccgagaagatcggggac	16	11	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:17949635T>C	uc001ban.2	+	12	1324	c.1165T>C	c.(1165-1167)TCC>CCC	p.S389P	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.S350P|ARHGEF10L_uc001bao.2_Missense_Mutation_p.S350P|ARHGEF10L_uc001bap.2_Missense_Mutation_p.S350P|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.S147P|ARHGEF10L_uc001baq.2_Missense_Mutation_p.S155P|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.S167P|ARHGEF10L_uc001bar.2_Missense_Mutation_p.S167P|ARHGEF10L_uc009vpf.2_5'Flank	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	389	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TGAGTGGGATTCCACCGAGAA	0.607													C	17949635	T	C	17949635	3	2	94	1	0	0	0	0	1	0	0	0	895	1783	62	3	1207	3	ARHGEF10L	1	17949635	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	698737	17949635	231300986	52	59185											
ARHGEF10L	55160	broad.mit.edu	37	chr1	18014076	18014076	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgtgccacagcaaagcttCgaggcgcaccaggacgaggc	13	12	0	0	rs61749347		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:18014076C>T	uc001ban.2	+	27	3177	c.3018C>T	c.(3016-3018)TTC>TTT	p.F1006F	ARHGEF10L_uc009vpe.1_Silent_p.F967F|ARHGEF10L_uc001bao.2_Silent_p.F967F|ARHGEF10L_uc001bap.2_Silent_p.F962F|ARHGEF10L_uc001baq.2_Silent_p.F767F|ARHGEF10L_uc010ocs.1_Silent_p.F779F|ARHGEF10L_uc001bar.2_Silent_p.F709F|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	1006				F -> S (in Ref. 3; BAA91663).	regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGCAAAGCTTCGAGGCGCACC	0.642													T	18014076	C	T	18014076	2	4	94	1	0	0	0	0	0	0	0	1	895	883	31	1		1	ARHGEF10L	1	18014076	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	64441	18014076	231236545	53	59186											
ARHGEF10L	55160	broad.mit.edu	37	chr1	18014129	18014129	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acacatggtgaaggcgggcaGcggcgtctggatggccttct	16	10	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:18014129G>C	uc001ban.2	+	27	3230	c.3071G>C	c.(3070-3072)AGC>ACC	p.S1024T	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.S985T|ARHGEF10L_uc001bao.2_Missense_Mutation_p.S985T|ARHGEF10L_uc001bap.2_Missense_Mutation_p.S980T|ARHGEF10L_uc001baq.2_Missense_Mutation_p.S785T|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.S797T|ARHGEF10L_uc001bar.2_Missense_Mutation_p.S727T|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	1024					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AAGGCGGGCAGCGGCGTCTGG	0.622													C	18014129	G	C	18014129	3	2	94	1	0	0	0	0	1	0	0	0	895	971	34	5	3173	5	ARHGEF10L	1	18014129	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	53	18014129	231236492	54	59187											
PAX7	5081	broad.mit.edu	37	chr1	19027170	19027170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttcagtaaccgccgcgcCcgttggcgtaagcaggcagg	15	12	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:19027170C>T	uc001bay.2	+	6	1408	c.810C>T	c.(808-810)GCC>GCT	p.A270A	PAX7_uc001baz.2_Silent_p.A268A|PAX7_uc010oct.1_Silent_p.A270A	NM_002584	NP_002575	P23759	PAX7_HUMAN	paired box 7 isoform 1	270	Homeobox.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		ACCGCCGCGCCCGTTGGCGTA	0.647			T	FOXO1A	alveolar rhabdomyosarcoma								T	19027170	C	T	19027170	2	4	94	1	0	0	0	0	0	0	0	1	11484	610	22	4		4	PAX7	1	19027170	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1013041	19027170	230223451	55	59188											
TAS1R2	80834	broad.mit.edu	37	chr1	19181075	19181075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactcggaggcgatccacaCggcgccagtgaagttctggc	15	12	1	1	rs149739674		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:19181075C>T	uc001bba.1	-	3	890	c.889G>A	c.(889-891)GTG>ATG	p.V297M		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	297	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCGATCCACACGGCGCCAGTG	0.642													T	19181075	C	T	19181075	3	4	94	1	0	0	0	0	1	0	0	0	15560	536	19	1	1646	1	TAS1R2	1	19181075	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	153905	19181075	230069546	56	59189											
AKR7A3	22977	broad.mit.edu	37	chr1	19611268	19611268	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatacttgtacttgccggTcagcaggccccctgagggaa	11	13	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:19611268T>C	uc001bbv.1	-	5	693	c.616A>G	c.(616-618)ACC>GCC	p.T206A		NM_012067	NP_036199	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3	206	NADP.				cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity				0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TACTTGCCGGTCAGCAGGCCC	0.607													C	19611268	T	C	19611268	3	2	94	1	0	0	0	0	1	0	0	0	476	1667	58	3	391	3	AKR7A3	1	19611268	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	430193	19611268	229639353	57	59190											
PQLC2	54896	broad.mit.edu	37	chr1	19652784	19652784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgttcctcatggggatggCgtgcgccacaccgctgctga	14	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:19652784C>T	uc001bby.2	+	6	780	c.428C>T	c.(427-429)GCG>GTG	p.A143V	PQLC2_uc001bbz.2_Missense_Mutation_p.A78V|PQLC2_uc001bca.2_Missense_Mutation_p.A143V|PQLC2_uc001bcb.2_Missense_Mutation_p.A32V|PQLC2_uc001bcc.2_Missense_Mutation_p.A32V	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	143	Helical; (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGGGATGGCGTGCGCCACA	0.662													T	19652784	C	T	19652784	3	4	94	1	0	0	0	0	1	0	0	0	12419	768	27	1	442	1	PQLC2	1	19652784	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	41516	19652784	229597837	58	59191											
HTR6	3362	broad.mit.edu	37	chr1	20005157	20005157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggccagcctgacgctggGcatcctgctgggcatgttct	14	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:20005157G>A	uc001bcl.2	+	2	1279	c.812G>A	c.(811-813)GGC>GAC	p.G271D		NM_000871	NP_000862	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6	271	Helical; Name=6; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CTGACGCTGGGCATCCTGCTG	0.637													A	20005157	G	A	20005157	3	1	94	1	0	0	0	0	1	0	0	0	7451	1203	42	2	818	2	HTR6	1	20005157	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	352373	20005157	229245464	59	59192											
HTR6	3362	broad.mit.edu	37	chr1	20005700	20005700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcagacgcaggctcaggcGgctcctcgggcctgcggctc	14	16	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:20005700G>A	uc001bcl.2	+	3	1629	c.1162G>A	c.(1162-1164)GGC>AGC	p.G388S		NM_000871	NP_000862	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6	388	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	AGGCTCAGGCGGCTCCTCGGG	0.721													A	20005700	G	A	20005700	3	1	94	1	0	0	0	0	1	0	0	0	7451	1116	39	1	1172	1	HTR6	1	20005700	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	543	20005700	229244921	60	59193											
UBXN10	127733	broad.mit.edu	37	chr1	20517261	20517261	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataccatctccgcctccagcCattccctatgagttgccaag	6	16	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:20517261C>A	uc001bdb.2	+	2	291	c.207C>A	c.(205-207)GCC>GCA	p.A69A		NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	69										ovary(1)	1						CGCCTCCAGCCATTCCCTATG	0.562													A	20517261	C	A	20517261	2	1	94	1	0	0	0	0	0	0	0	1	16909	581	21	5		5	UBXN10	1	20517261	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	511561	20517261	228733360	61	59194											
UBXN10	127733	broad.mit.edu	37	chr1	20517393	20517393	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcttcctcttctctcaataaGtatccagtccttccttccat	3	15	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:20517393G>C	uc001bdb.2	+	2	423	c.339G>C	c.(337-339)AAG>AAC	p.K113N		NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	113										ovary(1)	1						CTCTCAATAAGTATCCAGTCC	0.537													C	20517393	G	C	20517393	3	2	94	1	0	0	0	0	1	0	0	0	16909	1020	36	5	341	5	UBXN10	1	20517393	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	132	20517393	228733228	62	59195											
FAM43B	163933	broad.mit.edu	37	chr1	20879828	20879828	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggccgcacggcatccgcaTgcagccgtgcgagcgcagcg	17	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:20879828T>C	uc001bdj.2	+	1	897	c.362T>C	c.(361-363)ATG>ACG	p.M121T		NM_207334	NP_997217	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	121											0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		GGCATCCGCATGCAGCCGTGC	0.751													C	20879828	T	C	20879828	3	2	94	1	0	0	0	0	1	0	0	0	5563	1464	51	3	364	3	FAM43B	1	20879828	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	362435	20879828	228370793	63	59196											
PINK1	65018	broad.mit.edu	37	chr1	20976990	20976990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggggtgaacatattctaGccctgaagaatctgaagtta	10	7	3	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:20976990G>A	uc001bdm.2	+	8	1646	c.1552G>A	c.(1552-1554)GCC>ACC	p.A518T	PINK1_uc001bdn.2_Missense_Mutation_p.A211T	NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1 precursor	518	Cytoplasmic (Potential).				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			ovary(2)|central_nervous_system(1)	3		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACATATTCTAGCCCTGAAGAA	0.507													A	20976990	G	A	20976990	3	1	94	1	0	0	0	0	1	0	0	0	11932	971	34	2	1582	2	PINK1	1	20976990	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	97162	20976990	228273631	64	59197											
EIF4G3	8672	broad.mit.edu	37	chr1	21167512	21167512	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcagctcttccacacactGcatggcttcctgttccaaca	5	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:21167512G>A	uc001bec.2	-	25	3986	c.3730C>T	c.(3730-3732)CAG>TAG	p.Q1244*	EIF4G3_uc010odi.1_Nonsense_Mutation_p.Q848*|EIF4G3_uc010odj.1_Nonsense_Mutation_p.Q1243*|EIF4G3_uc009vpz.2_Nonsense_Mutation_p.Q964*|EIF4G3_uc001bed.2_Nonsense_Mutation_p.Q1244*|EIF4G3_uc001bef.2_Nonsense_Mutation_p.Q1280*|EIF4G3_uc001bee.2_Nonsense_Mutation_p.Q1250*	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	1244	MI.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCCACACACTGCATGGCTTCC	0.433													A	21167512	G	A	21167512	4	1	94	1	0	0	0	0	0	1	0	0	5038	1328	46	2	1059	2	EIF4G3	1	21167512	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	190522	21167512	228083109	65	59198											
ALPL	249	broad.mit.edu	37	chr1	21887702	21887702	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccccttcgtggccctctcCaaggtgagccccatccccaa	7	19	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:21887702C>T	uc001bet.2	+	4	551	c.294C>T	c.(292-294)TCC>TCT	p.S98S	ALPL_uc010odn.1_Silent_p.S46S|ALPL_uc010odo.1_Silent_p.S43S|ALPL_uc010odp.1_Intron|ALPL_uc001beu.3_Silent_p.S98S	NM_000478	NP_000469	P05186	PPBT_HUMAN	tissue-nonspecific alkaline phosphatase	98					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	TGGCCCTCTCCAAGGTGAGCC	0.423													T	21887702	C	T	21887702	2	4	94	1	0	0	0	0	0	0	0	1	547	581	21	4		4	ALPL	1	21887702	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	720190	21887702	227362919	66	59199											
WNT4	54361	broad.mit.edu	37	chr1	22447841	22447841	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagagcatcctgaccactGgaagcctggggtgtggtggg	17	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:22447841G>A	uc001bfs.3	-	4	555	c.451C>T	c.(451-453)CAG>TAG	p.Q151*	WNT4_uc010odt.1_Nonsense_Mutation_p.Q88*	NM_030761	NP_110388	P56705	WNT4_HUMAN	wingless-type MMTV integration site family,	151					adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity			ovary(1)	1		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTGACCACTGGAAGCCTGGG	0.637													A	22447841	G	A	22447841	4	1	94	1	0	0	0	0	0	1	0	0	17387	1357	47	4	612	4	WNT4	1	22447841	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	560139	22447841	226802780	67	59200											
C1QA	712	broad.mit.edu	37	chr1	22965826	22965826	+	Frame_Shift_Del	DEL	A	A	-													tctgggttgaaaaagaccccAaaaagggtcacatttaccag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:22965826delA	uc001bfy.2	+	3	749	c.664delA	c.(664-666)AAAfs	p.K222fs	C1QA_uc001bfz.2_Frame_Shift_Del_p.K222fs	NM_015991	NP_057075	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	222	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AAAAGACCCCAAAAAGGGTCA	0.597													-	22965826	A	-	22965826	7	5	94	1	0	1	0	1	0	0	0	0	1954	131	5	0	670	0	C1QA	1	22965826	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	517985	22965826	226284795	68	59201											
LUZP1	7798	broad.mit.edu	37	chr1	23415446	23415446	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcctcggcccgtactcgcCcagactctggcagcccctgc	10	19	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:23415446C>A	uc001bgk.2	-	5	3557	c.3173G>T	c.(3172-3174)GGG>GTG	p.G1058V	LUZP1_uc010odv.1_Missense_Mutation_p.G1058V	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	1058						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CCGTACTCGCCCAGACTCTGG	0.602													A	23415446	C	A	23415446	3	1	94	1	0	0	0	0	1	0	0	0	9086	623	22	5	61	5	LUZP1	1	23415446	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	449620	23415446	225835175	69	59202											
LUZP1	7798	broad.mit.edu	37	chr1	23417973	23417973	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctaaagatttcaagtctcGcctactcttccaggcattcc	5	13	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:23417973G>A	uc001bgk.2	-	4	3166	c.2782C>T	c.(2782-2784)CGA>TGA	p.R928*	LUZP1_uc010odv.1_Nonsense_Mutation_p.R928*|LUZP1_uc001bgl.2_Nonsense_Mutation_p.R928*|LUZP1_uc001bgm.1_Nonsense_Mutation_p.R928*	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	928						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTCAAGTCTCGCCTACTCTTC	0.493													A	23417973	G	A	23417973	4	1	94	1	0	0	0	0	0	1	0	0	9086	1095	38	1	456	1	LUZP1	1	23417973	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2527	23417973	225832648	70	59203											
HTR1D	3352	broad.mit.edu	37	chr1	23520194	23520194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggcctgccgccagaagagCggggggatggagatgcagat	18	8	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:23520194C>T	uc001bgn.2	-	1	1029	c.519G>A	c.(517-519)CCG>CCA	p.P173P		NM_000864	NP_000855	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D	173	Helical; Name=4; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCCAGAAGAGCGGGGGGATGG	0.597													T	23520194	C	T	23520194	2	4	94	1	0	0	0	0	0	0	0	1	7438	755	27	1		1	HTR1D	1	23520194	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	102221	23520194	225730427	71	59204											
TCEB3	6924	broad.mit.edu	37	chr1	24078209	24078209	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gttctaacaacctaaagactCcagaagggaaagtcaaaact	7	9	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:24078209C>A	uc001bho.2	+	4	1252	c.1192C>A	c.(1192-1194)CCA>ACA	p.P398T		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	398					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CCTAAAGACTCCAGAAGGGAA	0.463											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	24078209	C	A	24078209	3	1	94	1	0	0	0	0	1	0	0	0	15678	855	30	5	1206	5	TCEB3	1	24078209	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	558015	24078209	225172412	72	59205											
GRHL3	57822	broad.mit.edu	37	chr1	24668708	24668708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctatgactgtggcttggGcactgagcgcctggtacacc	12	13	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:24668708G>A	uc001biy.2	+	9	1212	c.1166G>A	c.(1165-1167)GGC>GAC	p.G389D	GRHL3_uc001bix.2_Missense_Mutation_p.G384D|GRHL3_uc001biz.2_Missense_Mutation_p.G291D	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	384					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TGTGGCTTGGGCACTGAGCGC	0.557													A	24668708	G	A	24668708	3	1	94	1	0	0	0	0	1	0	0	0	6765	1203	42	2	1221	2	GRHL3	1	24668708	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	590499	24668708	224581913	73	59206											
SRRM1	10250	broad.mit.edu	37	chr1	24996800	24996800	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacaccgagcccatcaccGccaagagtatgtgtctgcct	8	16	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:24996800G>A	uc001bjm.2	+	15	2618	c.2394G>A	c.(2392-2394)CCG>CCA	p.P798P	SRRM1_uc010oel.1_Silent_p.P810P|SRRM1_uc009vri.1_Silent_p.P727P	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	798	Pro-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GCCCATCACCGCCAAGAGTAT	0.468													A	24996800	G	A	24996800	2	1	94	1	0	0	0	0	0	0	0	1	15167	1074	38	1		1	SRRM1	1	24996800	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	328092	24996800	224253821	74	59207											
RUNX3	864	broad.mit.edu	37	chr1	25245750	25245750	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctgggctcccggggtccGtccacggtcaccttgatggc	14	15	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:25245750G>A	uc001bjq.2	-	3	936	c.525C>T	c.(523-525)GAC>GAT	p.D175D	RUNX3_uc010oen.1_Silent_p.D175D|RUNX3_uc009vrj.2_Silent_p.D189D|RUNX3_uc001bjr.2_Silent_p.D189D	NM_004350	NP_004341	Q13761	RUNX3_HUMAN	runt-related transcription factor 3 isoform 2	175	Runt.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CCCGGGGTCCGTCCACGGTCA	0.652													A	25245750	G	A	25245750	2	1	94	1	0	0	0	0	0	0	0	1	13749	1136	40	1		1	RUNX3	1	25245750	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	248950	25245750	224004871	75	59208											
TRIM63	84676	broad.mit.edu	37	chr1	26384893	26384893	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcaccaagaggaaggtGgctcccccaggctcgtccag	12	15	1	1	rs138337721		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:26384893G>T	uc001bli.1	-	5	955	c.819C>A	c.(817-819)GCC>GCA	p.A273A		NM_032588	NP_115977	Q969Q1	TRI63_HUMAN	muscle specific ring finger protein 1	273	COS.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGGAAGGTGGCTCCCCCAG	0.478													T	26384893	G	T	26384893	2	4	94	1	0	0	0	0	0	0	0	1	16535	1335	47	5		5	TRIM63	1	26384893	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1139143	26384893	222865728	76	59209											
CNKSR1	10256	broad.mit.edu	37	chr1	26510765	26510765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccccagtcccggacccagCcctgcctggacaggtagtct	10	17	1	0	rs139381171		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:26510765C>T	uc001bln.3	+	11	1066	c.1008C>T	c.(1006-1008)AGC>AGT	p.S336S	CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Silent_p.S329S|CNKSR1_uc009vsd.2_Silent_p.S71S|CNKSR1_uc009vse.2_Silent_p.S71S|CNKSR1_uc001blo.2_Silent_p.S71S	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras	336	Pro-rich.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			lung(1)|kidney(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCGGACCCAGCCCTGCCTGGA	0.612													T	26510765	C	T	26510765	2	4	94	1	0	0	0	0	0	0	0	1	3606	738	26	2		2	CNKSR1	1	26510765	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	125872	26510765	222739856	77	59210											
CATSPER4	378807	broad.mit.edu	37	chr1	26527938	26527938	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgagcgggtcgttggagacTacgtcatccaaggacatccg	13	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:26527938T>C	uc010oez.1	+	9	1293	c.1293T>C	c.(1291-1293)ACT>ACC	p.T431T	CATSPER4_uc010oey.1_Silent_p.T253T|CATSPER4_uc009vsf.2_RNA	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	431	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CGTTGGAGACTACGTCATCCA	0.577													C	26527938	T	C	26527938	2	2	94	1	0	0	0	0	0	0	0	1	2690	1509	53	3		3	CATSPER4	1	26527938	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	17173	26527938	222722683	78	59211											
ZNF683	257101	broad.mit.edu	37	chr1	26691291	26691291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaagcagggtctcccacCgagcgctggggtgccccagc	16	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:26691291C>T	uc001bmg.1	-	4	864	c.746G>A	c.(745-747)CGG>CAG	p.R249Q	ZNF683_uc001bmh.1_Missense_Mutation_p.R249Q|ZNF683_uc009vsj.1_Missense_Mutation_p.R249Q	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	zinc finger protein 683	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGTCTCCCACCGAGCGCTGGG	0.647													T	26691291	C	T	26691291	3	4	94	1	0	0	0	0	1	0	0	0	18087	652	23	1	780	1	ZNF683	1	26691291	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	163353	26691291	222559330	79	59212											
ARID1A	8289	broad.mit.edu	37	chr1	27087914	27087914	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccacccagtggccagtcggAcagcatcatgcatccttcca	9	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:27087914A>G	uc001bmv.1	+	6	2574	c.2201A>G	c.(2200-2202)GAC>GGC	p.D734G	ARID1A_uc001bmt.1_Missense_Mutation_p.D734G|ARID1A_uc001bmu.1_Missense_Mutation_p.D734G|ARID1A_uc001bmw.1_Missense_Mutation_p.D351G	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	734					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCCAGTCGGACAGCATCATG	0.537			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								G	27087914	A	G	27087914	3	3	94	1	0	0	0	0	1	0	0	0	913	275	10	3	2223	3	ARID1A	1	27087914	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	396623	27087914	222162707	80	59213											
ARID1A	8289	broad.mit.edu	37	chr1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-													tgctgcactggcggattggtGggggggacaccactgagcat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACA	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27105931	G	-	27105931	7	5	94	1	0	1	0	1	0	0	0	0	913	1348	47	0	5620	0	ARID1A	1	27105931	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	18017	27105931	222144690	81	59214											
ARID1A	8289	broad.mit.edu	37	chr1	27106804	27106804	+	Frame_Shift_Del	DEL	C	C	-													tggacctgattctggccacaCcccccttcagccgcctggag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:27106804delC	uc001bmv.1	+	20	6788	c.6415delC	c.(6415-6417)CCCfs	p.P2139fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.P1922fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.P985fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.P467fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.P381fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2139					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.F2141fs*59(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCTGGCCACACCCCCCTTCAG	0.587			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								-	27106804	C	-	27106804	7	5	94	1	0	1	0	1	0	0	0	0	913	507	18	0	6493	0	ARID1A	1	27106804	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	873	27106804	222143817	82	59215											
ZDHHC18	84243	broad.mit.edu	37	chr1	27175193	27175193	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagtactgcttcacctgCaagatgttccggccaccccg	9	15	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:27175193C>T	uc001bnb.2	+	3	686	c.591C>T	c.(589-591)TGC>TGT	p.C197C	ZDHHC18_uc010ofh.1_Silent_p.C62C	NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	197	DHHC-type.					integral to membrane	zinc ion binding				0		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		GCTTCACCTGCAAGATGTTCC	0.592													T	27175193	C	T	27175193	2	4	94	1	0	0	0	0	0	0	0	1	17605	718	25	2		2	ZDHHC18	1	27175193	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	68389	27175193	222075428	83	59216											
SFN	2810	broad.mit.edu	37	chr1	27189799	27189799	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaaaggcgccgtggagaaGggcgaggagctctcctgcga	17	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:27189799G>T	uc001bnc.1	+	1	167	c.96G>T	c.(94-96)AAG>AAT	p.K32N	uc010ofi.1_RNA	NM_006142	NP_006133	P31947	1433S_HUMAN	stratifin	32					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity				0		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		CCGTGGAGAAGGGCGAGGAGC	0.602													T	27189799	G	T	27189799	3	4	94	1	0	0	0	0	1	0	0	0	14159	991	35	5	98	5	SFN	1	27189799	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	14606	27189799	222060822	84	59217											
AHDC1	27245	broad.mit.edu	37	chr1	27875216	27875216	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggatcacgttgggctcGctgacgtggcagtcaaaact	12	11	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:27875216G>A	uc009vsy.2	-	6	4380	c.3411C>T	c.(3409-3411)AGC>AGT	p.S1137S	AHDC1_uc009vsz.1_Silent_p.S1137S	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1137							DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CGTTGGGCTCGCTGACGTGGC	0.582													A	27875216	G	A	27875216	2	1	94	1	0	0	0	0	0	0	0	1	412	1078	38	1		1	AHDC1	1	27875216	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	685417	27875216	221375405	85	59218											
AHDC1	27245	broad.mit.edu	37	chr1	27875591	27875591	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcgctgtgggcgctgctGggtgaggcagggaggctgtt	21	9	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:27875591G>A	uc009vsy.2	-	6	4005	c.3036C>T	c.(3034-3036)CCC>CCT	p.P1012P	AHDC1_uc009vsz.1_Silent_p.P1012P	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1012							DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGGCGCTGCTGGGTGAGGCAG	0.662													A	27875591	G	A	27875591	2	1	94	1	0	0	0	0	0	0	0	1	412	1335	47	4		4	AHDC1	1	27875591	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	375	27875591	221375030	86	59219											
AHDC1	27245	broad.mit.edu	37	chr1	27877978	27877978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggccgcagccgtggctcCgggactatggccttggccag	16	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:27877978C>T	uc009vsy.2	-	6	1618	c.649G>A	c.(649-651)GGA>AGA	p.G217R	AHDC1_uc009vsz.1_Missense_Mutation_p.G217R|AHDC1_uc001boh.1_Missense_Mutation_p.G90R	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	217	Pro-rich.						DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCCGTGGCTCCGGGACTATGG	0.662													T	27877978	C	T	27877978	3	4	94	1	0	0	0	0	1	0	0	0	412	661	23	1	4166	1	AHDC1	1	27877978	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2387	27877978	221372643	87	59220											
FGR	2268	broad.mit.edu	37	chr1	27943397	27943397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgcaccagctcctgcaccGagttgaactgaacccgtgtg	11	14	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:27943397G>A	uc001boj.2	-	5	799	c.653C>T	c.(652-654)TCG>TTG	p.S218L	FGR_uc001boi.2_5'Flank|FGR_uc001bok.2_Missense_Mutation_p.S218L|FGR_uc001bol.2_Missense_Mutation_p.S218L|FGR_uc001bom.2_Missense_Mutation_p.S218L	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	218	SH2.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(2)	2		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTCCTGCACCGAGTTGAACTG	0.373													A	27943397	G	A	27943397	3	1	94	1	0	0	0	0	1	0	0	0	5874	1059	37	1	964	1	FGR	1	27943397	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	65419	27943397	221307224	88	59221											
FAM76A	199870	broad.mit.edu	37	chr1	28060599	28060599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttattgggaataaatgccagCgctgcacaaattcagaaaag	9	7	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:28060599C>T	uc001boq.2	+	4	361	c.259C>T	c.(259-261)CGC>TGC	p.R87C	FAM76A_uc009vtb.2_Missense_Mutation_p.R87C|FAM76A_uc001bor.2_Missense_Mutation_p.R121C|FAM76A_uc001bos.2_Missense_Mutation_p.R121C|FAM76A_uc001bot.2_Missense_Mutation_p.R87C|FAM76A_uc010ofm.1_Intron	NM_152660	NP_689873	Q8TAV0	FA76A_HUMAN	hypothetical protein LOC199870 isoform 3	87											0		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		TAAATGCCAGCGCTGCACAAA	0.378													T	28060599	C	T	28060599	3	4	94	1	0	0	0	0	1	0	0	0	5624	768	27	1	379	1	FAM76A	1	28060599	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	117202	28060599	221190022	89	59222											
EYA3	2140	broad.mit.edu	37	chr1	28362100	28362100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgcctgagggtagacagCatagggttgagtctgctgta	16	6	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:28362100C>T	uc001bpi.1	-	6	481	c.316G>A	c.(316-318)GCT>ACT	p.A106T	EYA3_uc010ofs.1_Missense_Mutation_p.A53T|EYA3_uc010oft.1_Missense_Mutation_p.A106T|EYA3_uc001bpj.2_Missense_Mutation_p.A106T|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA	NM_001990	NP_001981	Q99504	EYA3_HUMAN	eyes absent 3	106					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			ovary(2)|skin(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		GGGTAGACAGCATAGGGTTGA	0.423													T	28362100	C	T	28362100	3	4	94	1	0	0	0	0	1	0	0	0	5330	710	25	2	1457	2	EYA3	1	28362100	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	301501	28362100	220888521	90	59223											
PHACTR4	65979	broad.mit.edu	37	chr1	28819566	28819566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaatgaatttaaaagctccGagatggaggttcatgaagag	11	4	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:28819566G>A	uc001bpw.2	+	13	2338	c.2056G>A	c.(2056-2058)GAG>AAG	p.E686K	PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.E670K|PHACTR4_uc001bpy.2_Missense_Mutation_p.E696K|PHACTR4_uc001bpz.2_RNA	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1	686							actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TAAAAGCTCCGAGATGGAGGT	0.383													A	28819566	G	A	28819566	3	1	94	1	0	0	0	0	1	0	0	0	11812	1059	37	1	2152	1	PHACTR4	1	28819566	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	457466	28819566	220431055	91	59224											
OPRD1	4985	broad.mit.edu	37	chr1	29185674	29185674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccatgatgagtgttgacCgctacatcgctgtctgccac	9	13	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:29185674C>T	uc001brf.1	+	2	678	c.436C>T	c.(436-438)CGC>TGC	p.R146C		NM_000911	NP_000902	P41143	OPRD_HUMAN	opioid receptor, delta 1	146	Cytoplasmic (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)	GAGTGTTGACCGCTACATCGC	0.577													T	29185674	C	T	29185674	3	4	94	1	0	0	0	0	1	0	0	0	10884	652	23	1	442	1	OPRD1	1	29185674	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	366108	29185674	220064947	92	59225											
EPB41	2035	broad.mit.edu	37	chr1	29319963	29319963	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaagcagaaacagaatTaaaagcttcccaaaaaccaa	4	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:29319963T>C	uc001brm.1	+	2	597	c.590T>C	c.(589-591)TTA>TCA	p.L197S	EPB41_uc001brg.1_5'UTR|EPB41_uc001brh.1_5'UTR|EPB41_uc001bri.1_Missense_Mutation_p.L197S|EPB41_uc001brj.1_5'UTR|EPB41_uc009vtk.1_Missense_Mutation_p.L197S|EPB41_uc001brk.2_Missense_Mutation_p.L197S|EPB41_uc001brl.1_Missense_Mutation_p.L197S|EPB41_uc009vtl.1_5'UTR|EPB41_uc009vtm.1_Intron	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	197					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			ovary(1)	1		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GAAACAGAATTAAAAGCTTCC	0.378													C	29319963	T	C	29319963	3	2	94	1	0	0	0	0	1	0	0	0	5151	1764	61	3	596	3	EPB41	1	29319963	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	134289	29319963	219930658	93	59226											
EPB41	2035	broad.mit.edu	37	chr1	29379717	29379717	+	Frame_Shift_Del	DEL	A	A	-													gcgtcctagatgcctctgctAaaaaaacagtggtccctaaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:29379717delA	uc001brm.1	+	11	1745	c.1738delA	c.(1738-1740)AAAfs	p.K580fs	EPB41_uc001brg.1_Frame_Shift_Del_p.K371fs|EPB41_uc001brh.1_Frame_Shift_Del_p.K371fs|EPB41_uc001bri.1_Frame_Shift_Del_p.K545fs|EPB41_uc001brj.1_Frame_Shift_Del_p.K371fs|EPB41_uc009vtk.1_Frame_Shift_Del_p.K544fs|EPB41_uc001brk.2_Frame_Shift_Del_p.K580fs|EPB41_uc001brl.1_Frame_Shift_Del_p.K580fs|EPB41_uc009vtl.1_Frame_Shift_Del_p.K371fs|EPB41_uc009vtm.1_Frame_Shift_Del_p.K213fs	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	580	Hydrophilic.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			ovary(1)	1		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TGCCTCTGCTAAAAAAACAGT	0.542													-	29379717	A	-	29379717	7	5	94	1	0	1	0	1	0	0	0	0	5151	363	13	0	1780	0	EPB41	1	29379717	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	59754	29379717	219870904	94	59227											
PTPRU	10076	broad.mit.edu	37	chr1	29630483	29630483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagctgcaccctgcggtgCgtgtcgcagaccttctgcag	14	14	1	1	rs144662614		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:29630483C>T	uc001bru.2	+	17	2733	c.2623C>T	c.(2623-2625)CGT>TGT	p.R875C	PTPRU_uc001brv.2_Missense_Mutation_p.R865C|PTPRU_uc001brw.2_Missense_Mutation_p.R865C|PTPRU_uc009vtq.2_Missense_Mutation_p.R865C|PTPRU_uc009vtr.2_Missense_Mutation_p.R865C	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	875	Mediates interaction with CTNNB1 (By similarity).|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCCTGCGGTGCGTGTCGCAGA	0.682													T	29630483	C	T	29630483	3	4	94	1	0	0	0	0	1	0	0	0	12813	768	27	1	2689	1	PTPRU	1	29630483	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	250766	29630483	219620138	95	59228											
MATN1	4146	broad.mit.edu	37	chr1	31189677	31189677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttcagagtgaagccctcGtggcaggcgcaggtgtagga	16	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:31189677G>A	uc001brz.2	-	4	784	c.750C>T	c.(748-750)CAC>CAT	p.H250H	uc001bsb.1_5'Flank|MATN1_uc001bsa.1_Silent_p.H168H	NM_002379	NP_002370	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein precursor	250	EGF-like.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)	1		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TGAAGCCCTCGTGGCAGGCGC	0.632													A	31189677	G	A	31189677	2	1	94	1	0	0	0	0	0	0	0	1	9333	1136	40	1		1	MATN1	1	31189677	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1559194	31189677	218060944	96	59229											
MATN1	4146	broad.mit.edu	37	chr1	31194331	31194331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcgaactggatggccaggCcggtcatggtgcctgtggac	16	10	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:31194331C>T	uc001brz.2	-	2	396	c.362G>A	c.(361-363)GGC>GAC	p.G121D	uc001bsb.1_RNA|MATN1_uc001bsa.1_5'Flank	NM_002379	NP_002370	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein precursor	121	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)	1		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GATGGCCAGGCCGGTCATGGT	0.632													T	31194331	C	T	31194331	3	4	94	1	0	0	0	0	1	0	0	0	9333	739	26	2	1156	2	MATN1	1	31194331	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4654	31194331	218056290	97	59230											
HCRTR1	3061	broad.mit.edu	37	chr1	32086455	32086455	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggcaggctgtgtccgtGtcagtggcagtgctaactct	16	9	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:32086455G>A	uc009vtx.2	+	5	775	c.390G>A	c.(388-390)GTG>GTA	p.V130V	HCRTR1_uc001btb.2_5'UTR|HCRTR1_uc001btc.3_Silent_p.V44V|HCRTR1_uc001btd.2_Silent_p.V130V|HCRTR1_uc010ogl.1_Silent_p.V130V	NM_001525	NP_001516	O43613	OX1R_HUMAN	orexin receptor 1	130	Helical; Name=3; (Potential).				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				ovary(1)	1		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CTGTGTCCGTGTCAGTGGCAG	0.512													A	32086455	G	A	32086455	2	1	94	1	0	0	0	0	0	0	0	1	7001	1364	48	4		4	HCRTR1	1	32086455	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	892124	32086455	217164166	98	59231											
BAI2	576	broad.mit.edu	37	chr1	32202210	32202210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgcttgcgaacgaggcGggtgcgcatccgcccaatga	15	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:32202210G>A	uc001btn.2	-	21	3448	c.3094C>T	c.(3094-3096)CGC>TGC	p.R1032C	BAI2_uc001btm.2_5'Flank|BAI2_uc001btp.1_5'UTR|BAI2_uc010ogn.1_Missense_Mutation_p.R35C|BAI2_uc010ogo.1_Missense_Mutation_p.R674C|BAI2_uc010ogp.1_Missense_Mutation_p.R965C|BAI2_uc010ogq.1_Missense_Mutation_p.R1032C|BAI2_uc001bto.2_Missense_Mutation_p.R1032C	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1032	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CGAACGAGGCGGGTGCGCATC	0.637													A	32202210	G	A	32202210	3	1	94	1	0	0	0	0	1	0	0	0	1299	1116	39	1	1715	1	BAI2	1	32202210	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	115755	32202210	217048411	99	59232											
BAI2	576	broad.mit.edu	37	chr1	32221986	32221986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaagttcttgtcgaagtgcAggaaggtaaaggggcctgag	16	6	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:32221986A>G	uc001btn.2	-	4	806	c.452T>C	c.(451-453)CTG>CCG	p.L151P	BAI2_uc010ogp.1_Missense_Mutation_p.L139P|BAI2_uc010ogq.1_Missense_Mutation_p.L151P|BAI2_uc001bto.2_Missense_Mutation_p.L151P|BAI2_uc001btq.1_Missense_Mutation_p.L139P|BAI2_uc010ogr.1_Missense_Mutation_p.L139P	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	151	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GTCGAAGTGCAGGAAGGTAAA	0.687													G	32221986	A	G	32221986	3	3	94	1	0	0	0	0	1	0	0	0	1299	188	7	3	4425	3	BAI2	1	32221986	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	19776	32221986	217028635	100	59233											
KPNA6	23633	broad.mit.edu	37	chr1	32628093	32628093	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaggcagtcatagactcCggagtctgccggagattggt	13	10	2	2	rs150602159	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:32628093C>T	uc001bug.2	+	9	967	c.879C>T	c.(877-879)TCC>TCT	p.S293S	KPNA6_uc001buh.2_Silent_p.S68S|KPNA6_uc010ogx.1_Silent_p.S290S|KPNA6_uc010ogy.1_Silent_p.S298S|KPNA6_uc009vtz.2_Silent_p.S188S	NM_012316	NP_036448	O60684	IMA7_HUMAN	karyopherin alpha 6	293	ARM 6.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TCATAGACTCCGGAGTCTGCC	0.433													T	32628093	C	T	32628093	2	4	94	1	0	0	0	0	0	0	0	1	8434	639	23	1		1	KPNA6	1	32628093	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	406107	32628093	216622528	101	59234											
HDAC1	3065	broad.mit.edu	37	chr1	32797831	32797833	+	In_Frame_Del	DEL	GAG	GAG	-													atgaaaaagagaaagacccaGaggagaagaaaggtgggttt					rs146747999	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:32797831_32797833delGAG	uc001bvb.1	+	12	1423_1425	c.1360_1362delGAG	c.(1360-1362)GAGdel	p.E455del	HDAC1_uc010ohf.1_In_Frame_Del_p.E426del|HDAC1_uc001bvc.1_In_Frame_Del_p.E211del	NM_004964	NP_004955	Q13547	HDAC1_HUMAN	histone deacetylase 1	455				Missing: Strongly decreases deacetylase activity, and disrupts interaction with NuRD and SIN3 complexes.	anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)	3		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	GAAAGACCCAGAGGAGAAGAAAG	0.527													-	32797833	GAG	-	32797831	7	5	94	1	0	1	0	1	0	0	0	0	7004	943	33	0	1406	0	HDAC1	1	32797831	In_Frame_Del	DEL	GAG	TCGA-BR-8487-01A-11D-2394-08	169738	32797831	216452790	102	59235											
YARS	8565	broad.mit.edu	37	chr1	33241691	33241691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagaaattttgaagtcaGcctggacaagacagataaga	9	8	2	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:33241691G>A	uc001bvy.1	-	13	2266	c.1478C>T	c.(1477-1479)GCT>GTT	p.A493V	YARS_uc001bvw.1_Missense_Mutation_p.A153V|YARS_uc001bvx.1_Missense_Mutation_p.A144V	NM_003680	NP_003671	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	493					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTTGAAGTCAGCCTGGACAAG	0.393													A	33241691	G	A	33241691	3	1	94	1	0	0	0	0	1	0	0	0	17464	985	34	2	112	2	YARS	1	33241691	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	443860	33241691	216008930	103	59236											
RNF19B	127544	broad.mit.edu	37	chr1	33411153	33411153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taactggggatgcaatgaccGacaaagtcactcctccagtg	10	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:33411153G>A	uc010oho.1	-	5	1226	c.1226C>T	c.(1225-1227)TCG>TTG	p.S409L	RNF19B_uc001bwm.3_Missense_Mutation_p.S408L|RNF19B_uc010ohp.1_Missense_Mutation_p.S408L	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B isoform a	409						integral to membrane	ligase activity|protein binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGCAATGACCGACAAAGTCAC	0.438													A	33411153	G	A	33411153	3	1	94	1	0	0	0	0	1	0	0	0	13471	1059	37	1	1018	1	RNF19B	1	33411153	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	169462	33411153	215839468	104	59237											
PHC2	1912	broad.mit.edu	37	chr1	33799727	33799727	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctggatcacaaacccTtcgataacatgcgtcaggat	7	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:33799727T>G	uc001bxg.1	-	9	1776	c.1722A>C	c.(1720-1722)GAA>GAC	p.E574D	PHC2_uc001bxh.1_Missense_Mutation_p.E546D|PHC2_uc009vuh.1_Missense_Mutation_p.E575D|PHC2_uc001bxe.1_Missense_Mutation_p.E39D|PHC2_uc001bxf.1_Intron	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	polyhomeotic-like 2 isoform a	574	HD1.				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCACAAACCCTTCGATAACAT	0.478													G	33799727	T	G	33799727	3	3	94	1	0	0	0	0	1	0	0	0	11817	1606	56	5	878	5	PHC2	1	33799727	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	388574	33799727	215450894	105	59238											
ZMYM1	79830	broad.mit.edu	37	chr1	35580393	35580393	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgtttttcggagtttgatTattgcaaaataaagcaaatt	7	3	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:35580393T>C	uc001bym.2	+	11	3110	c.2962T>C	c.(2962-2964)TAT>CAT	p.Y988H	ZMYM1_uc001byn.2_Missense_Mutation_p.Y988H|ZMYM1_uc010ohu.1_Missense_Mutation_p.Y969H|ZMYM1_uc001byo.2_Missense_Mutation_p.Y628H|ZMYM1_uc009vut.2_Missense_Mutation_p.Y913H	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM domain containing 1	988						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGAGTTTGATTATTGCAAAAT	0.244													C	35580393	T	C	35580393	3	2	94	1	0	0	0	0	1	0	0	0	17696	1754	61	3	2996	3	ZMYM1	1	35580393	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1780666	35580393	213670228	106	59239											
CLSPN	63967	broad.mit.edu	37	chr1	36217106	36217106	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaacacctgaagcttttcAcctgaacagaaatatgtaga	6	8	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:36217106A>G	uc001bzi.2	-	10	1853	c.1773T>C	c.(1771-1773)GGT>GGC	p.G591G	CLSPN_uc009vux.2_Silent_p.G527G	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	claspin	591					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAGCTTTTCACCTGAACAGA	0.368													G	36217106	A	G	36217106	2	3	94	1	0	0	0	0	0	0	0	1	3560	173	6	3		3	CLSPN	1	36217106	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	636713	36217106	213033515	107	59240											
COL8A2	1296	broad.mit.edu	37	chr1	36564489	36564489	+	Frame_Shift_Del	DEL	C	C	-													tgggcccacagctcctggctCccccctggggcctggaactc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:36564489delC	uc001bzv.1	-	2	800	c.793delG	c.(793-795)GAGfs	p.E265fs	COL8A2_uc001bzw.1_Frame_Shift_Del_p.E200fs	NM_005202	NP_005193	P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2 precursor	265	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTCCTGGCTCCCCCCTGGGG	0.657													-	36564489	C	-	36564489	7	5	94	1	0	1	0	1	0	0	0	0	3706	864	30	0	1322	0	COL8A2	1	36564489	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	347383	36564489	212686132	108	59241											
MANEAL	149175	broad.mit.edu	37	chr1	38265771	38265771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccaagaagacacccaccCgcctgtatttggactacctg	7	15	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:38265771C>T	uc001cby.2	+	4	1351	c.1270C>T	c.(1270-1272)CGC>TGC	p.R424C	MANEAL_uc001cbx.2_3'UTR|MANEAL_uc001cbz.2_Missense_Mutation_p.R202C	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like isoform 3	424	Lumenal (Potential).					Golgi membrane|integral to membrane	hydrolase activity				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GACACCCACCCGCCTGTATTT	0.582													T	38265771	C	T	38265771	3	4	94	1	0	0	0	0	1	0	0	0	9222	652	23	1	1284	1	MANEAL	1	38265771	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1701282	38265771	210984850	109	59242											
MACF1	23499	broad.mit.edu	37	chr1	39799060	39799061	+	Frame_Shift_Ins	INS	-	-	G													gatgaggaagatagtggcagINSggaaatttttctgtcatgca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:39799059_39799060A>AG	uc021olw.1	+	0	2119_2120	c.2119_2120A>AG	c.(2119-2121)aggfs	p.R707fs	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2272					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391													G	39799061	-	G	39799060	7	5	94	1	0	1	1	0	0	0	0	0	9144	1000	35	0	6891	0	MACF1	1	39799060	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1533289	39799060	209451561	110	59243											
PABPC4	8761	broad.mit.edu	37	chr1	40028016	40028016	+	Frame_Shift_Del	DEL	G	G	-													cagcatctgcttctgttcctGggggggtgctgcagccagca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:40028015_40028015TG>T	uc001cdl.2	-	12	2640	c.1742_1742CA>A	c.(1741-1743)cagfs	p.Q581fs	PPIEL_uc001cdk.3_5'Flank|PABPC4_uc010oiv.1_Frame_Shift_Del_p.Q565fs|PABPC4_uc001cdm.2_Frame_Shift_Del_p.Q552fs	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	565	PABC.				RNA catabolic process|RNA processing|blood coagulation|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTTCTGTTCCTGGGGGGGTGC	0.602													-	40028016	G	-	40028016	7	5	94	1	0	1	0	1	0	0	0	0	11366	1357	47	0	253	0	PABPC4	1	40028016	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	228956	40028016	209222605	111	59244											
KCNQ4	9132	broad.mit.edu	37	chr1	41285124	41285124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgacttctcctcctacgccGactcgctctggtgggggacg	12	16	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:41285124G>A	uc001cgh.1	+	5	896	c.814G>A	c.(814-816)GAC>AAC	p.D272N	KCNQ4_uc001cgi.1_Missense_Mutation_p.D272N	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	potassium voltage-gated channel KQT-like protein	272					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CTCCTACGCCGACTCGCTCTG	0.622													A	41285124	G	A	41285124	3	1	94	1	0	0	0	0	1	0	0	0	8085	1058	37	1	832	1	KCNQ4	1	41285124	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1257108	41285124	207965497	112	59245											
HIVEP3	59269	broad.mit.edu	37	chr1	41978664	41978664	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccgtggtggtgactcggcCtgacctggagaccatctcct	13	13	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:41978664C>A	uc001cgz.3	-	8	7441	c.6228G>T	c.(6226-6228)CAG>CAT	p.Q2076H	HIVEP3_uc001cha.3_Missense_Mutation_p.Q2076H|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	2076	6 X 4 AA tandem repeats of S-P-X-[RK].				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GTGACTCGGCCTGACCTGGAG	0.687													A	41978664	C	A	41978664	3	1	94	1	0	0	0	0	1	0	0	0	7188	680	24	5	1000	5	HIVEP3	1	41978664	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	693540	41978664	207271957	113	59246											
HIVEP3	59269	broad.mit.edu	37	chr1	42046124	42046125	+	Frame_Shift_Ins	INS	-	-	T													gcctcctcctccttcactctINStttttgctgctgggtttcca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:42046123_42046124C>CT	uc001cgz.4	-	3	5558_5559	c.4345_4346G>AG	c.(4345-4347)agafs	p.R1449fs	HIVEP3_uc001cha.4_Frame_Shift_Ins_p.R1449fs|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1449					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.R1449I(2)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCCTTCACTCTTTTTTGCTGC	0.53													T	42046125	-	T	42046124	7	5	94	1	0	1	1	0	0	0	0	0	7188	1617	56	0	2899	0	HIVEP3	1	42046124	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	67460	42046124	207204497	114	59247											
ELOVL1	64834	broad.mit.edu	37	chr1	43830302	43830302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcacctgcccgtctttctttCggagaataaagatcacctga	7	12	4	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:43830302C>T	uc001ciz.2	-	7	635	c.392G>A	c.(391-393)CGA>CAA	p.R131Q	ELOVL1_uc001cja.2_Missense_Mutation_p.R131Q|ELOVL1_uc001cjb.2_Missense_Mutation_p.R131Q|ELOVL1_uc001cjc.2_RNA|ELOVL1_uc010okh.1_Missense_Mutation_p.R104Q	NM_022821	NP_073732	Q9BW60	ELOV1_HUMAN	elongation of very long chain fatty acids-like	131					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTCTTTCTTTCGGAGAATAAA	0.517													T	43830302	C	T	43830302	3	4	94	1	0	0	0	0	1	0	0	0	5073	884	31	1	459	1	ELOVL1	1	43830302	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1784178	43830302	205420319	115	59248											
KIAA0467	23334	broad.mit.edu	37	chr1	43903310	43903310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggccatggaaaggggatgCgctgcccccttccctcgctc	12	17	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:43903310C>T	uc001cjk.1	+	30	4100	c.3638C>T	c.(3637-3639)GCG>GTG	p.A1213V		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2112						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AAAGGGGATGCGCTGCCCCCT	0.577													T	43903310	C	T	43903310	3	4	94	1	0	0	0	0	1	0	0	0	8178	768	27	1	3748	1	KIAA0467	1	43903310	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	73008	43903310	205347311	116	59249											
KIAA0467	23334	broad.mit.edu	37	chr1	43914072	43914072	+	Frame_Shift_Del	DEL	G	G	-													ggcctgatcgactgcggctaGgggggcgcctggccctggca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:43914072delG	uc001cjk.1	+	54	7651	c.7189delG	c.(7189-7191)GGGfs	p.G2397fs	KIAA0467_uc001cjl.1_Frame_Shift_Del_p.G385fs	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	3296						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACTGCGGCTAGGGGGGCGCCT	0.652													-	43914072	G	-	43914072	7	5	94	1	0	1	0	1	0	0	0	0	8178	1000	35	0	7395	0	KIAA0467	1	43914072	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	10762	43914072	205336549	117	59250											
B4GALT2	8704	broad.mit.edu	37	chr1	44447485	44447485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccagcccagacggtggcGgtcatcatcccctttagaca	9	16	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:44447485G>A	uc001clg.2	+	3	808	c.438G>A	c.(436-438)GCG>GCA	p.A146A	B4GALT2_uc001clh.2_Silent_p.A80A|B4GALT2_uc010okl.1_Silent_p.A175A|B4GALT2_uc001cli.2_Silent_p.A146A	NM_003780	NP_003771	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	146	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	AGACGGTGGCGGTCATCATCC	0.657													A	44447485	G	A	44447485	2	1	94	1	0	0	0	0	0	0	0	1	1271	1103	39	1		1	B4GALT2	1	44447485	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	533413	44447485	204803136	118	59251											
KLF17	128209	broad.mit.edu	37	chr1	44595272	44595272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgactctcactccttcccGgatgatttactgtcagagaa	8	12	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:44595272G>A	uc001clp.2	+	2	387	c.329G>A	c.(328-330)CGG>CAG	p.R110Q	KLF17_uc009vxf.1_Missense_Mutation_p.R73Q	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	zinc finger protein 393	110					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					ACTCCTTCCCGGATGATTTAC	0.552													A	44595272	G	A	44595272	3	1	94	1	0	0	0	0	1	0	0	0	8345	1116	39	1	335	1	KLF17	1	44595272	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	147787	44595272	204655349	119	59252											
RNF220	55182	broad.mit.edu	37	chr1	44878019	44878019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggtgccaggcacttttGccaatcgtgatttcccccct	11	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:44878019G>A	uc001clv.1	+	2	610	c.250G>A	c.(250-252)GCC>ACC	p.A84T	RNF220_uc001clw.1_Missense_Mutation_p.A84T	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	84				A -> V (in Ref. 3; AAH98300).	protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						AGGCACTTTTGCCAATCGTGA	0.493													A	44878019	G	A	44878019	3	1	94	1	0	0	0	0	1	0	0	0	13483	1319	46	2	252	2	RNF220	1	44878019	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	282747	44878019	204372602	120	59253											
BEST4	266675	broad.mit.edu	37	chr1	45250346	45250346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagggccgcagagactcgGccgccgtggccacagtgtag	16	12	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:45250346G>A	uc001cmm.2	-	8	1152	c.1103C>T	c.(1102-1104)GCC>GTC	p.A368V		NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN	bestrophin 4	368	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CAGAGACTCGGCCGCCGTGGC	0.652													A	45250346	G	A	45250346	3	1	94	1	0	0	0	0	1	0	0	0	1407	1203	42	2	326	2	BEST4	1	45250346	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	372327	45250346	204000275	121	59254											
ZSWIM5	57643	broad.mit.edu	37	chr1	45553798	45553798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgtccttgttcccacagCcacatgtcactgaggtgatt	8	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:45553798C>T	uc001cnd.2	-	2	935	c.707G>A	c.(706-708)GGC>GAC	p.G236D		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	236	SWIM-type.						zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					GTTCCCACAGCCACATGTCAC	0.473													T	45553798	C	T	45553798	3	4	94	1	0	0	0	0	1	0	0	0	18241	739	26	2	2902	2	ZSWIM5	1	45553798	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	303452	45553798	203696823	122	59255											
CCDC17	149483	broad.mit.edu	37	chr1	46087329	46087329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggatcatagggtgcagGgcccagcatgtccgatgtgg	15	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:46087329G>A	uc010olt.1	-	9	1313	c.1165C>T	c.(1165-1167)CCT>TCT	p.P389S	CCDC17_uc009vxy.2_Missense_Mutation_p.P357S|CCDC17_uc010ols.1_Missense_Mutation_p.P380S|CCDC17_uc001com.3_Missense_Mutation_p.P210S|CCDC17_uc001con.3_RNA|CCDC17_uc009vxz.2_Intron	NM_001114938	NP_001108410	Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	389										ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					TAGGGTGCAGGGCCCAGCATG	0.602													A	46087329	G	A	46087329	3	1	94	1	0	0	0	0	1	0	0	0	2793	1232	43	4	723	4	CCDC17	1	46087329	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	533531	46087329	203163292	123	59256											
RAD54L	8438	broad.mit.edu	37	chr1	46726490	46726490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagatgggcctaggaaagaCgctgcagtgcatcacattga	13	8	1	3	rs149246216		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:46726490C>T	uc009vye.2	+	8	683	c.569C>T	c.(568-570)ACG>ATG	p.T190M	RAD54L_uc001cpl.2_Missense_Mutation_p.T190M|RAD54L_uc001cpm.1_Missense_Mutation_p.T10M	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	190	Helicase ATP-binding.|ATP (Potential).				meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CTAGGAAAGACGCTGCAGTGC	0.547								Direct_reversal_of_damage|Homologous_recombination					T	46726490	C	T	46726490	3	4	94	1	0	0	0	0	1	0	0	0	12993	536	19	1	595	1	RAD54L	1	46726490	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	639161	46726490	202524131	124	59257											
LRRC41	10489	broad.mit.edu	37	chr1	46746884	46746884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctggcttgggtggtcaaCacgaatagagaggacccgta	14	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:46746884C>T	uc001cpn.2	-	5	1713	c.1669G>A	c.(1669-1671)GTT>ATT	p.V557I	LRRC41_uc010omb.1_Missense_Mutation_p.V557I	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	557										ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					GGGTGGTCAACACGAATAGAG	0.592													T	46746884	C	T	46746884	3	4	94	1	0	0	0	0	1	0	0	0	8999	478	17	4	793	4	LRRC41	1	46746884	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	20394	46746884	202503737	125	59258											
STIL	6491	broad.mit.edu	37	chr1	47717513	47717513	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatccacaccattggggctTaagccgctcatgccaacatt	7	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:47717513T>C	uc001crc.1	-	17	3314	c.3159A>G	c.(3157-3159)TTA>TTG	p.L1053L	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.L1007L|STIL_uc010omo.1_Silent_p.L1036L|STIL_uc001crd.1_Silent_p.L1054L|STIL_uc001cre.1_Silent_p.L1053L	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	1053					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CATTGGGGCTTAAGCCGCTCA	0.438													C	47717513	T	C	47717513	2	2	94	1	0	0	0	0	0	0	0	1	15281	1751	61	3		3	STIL	1	47717513	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	970629	47717513	201533108	126	59259											
DMRTA2	63950	broad.mit.edu	37	chr1	50885025	50885025	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaagatatccagcggcgtcCgctgccgtggacccgagcct	12	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:50885025C>A	uc010ona.1	-	2	1037	c.941G>T	c.(940-942)CGG>CTG	p.R314L	DMRTA2_uc010onb.1_Missense_Mutation_p.R314L	NM_032110	NP_115486	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	314	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0						CAGCGGCGTCCGCTGCCGTGG	0.697													A	50885025	C	A	50885025	3	1	94	1	0	0	0	0	1	0	0	0	4589	652	23	5	691	5	DMRTA2	1	50885025	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3167512	50885025	198365596	127	59260											
TTC39A	22996	broad.mit.edu	37	chr1	51755785	51755785	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcgtcatccactgagtacTcgttctctgaaaatagggat	8	10	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:51755785T>C	uc001csl.2	-	16	1598	c.1493A>G	c.(1492-1494)GAG>GGG	p.E498G	TTC39A_uc001csk.2_Missense_Mutation_p.E463G|TTC39A_uc010ond.1_Missense_Mutation_p.E435G|TTC39A_uc010one.1_Missense_Mutation_p.E462G|TTC39A_uc010onf.1_Missense_Mutation_p.E466G|TTC39A_uc001csj.2_Missense_Mutation_p.E99G	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A isoform 2	498							binding			skin(1)	1						CACTGAGTACTCGTTCTCTGA	0.343													C	51755785	T	C	51755785	3	2	94	1	0	0	0	0	1	0	0	0	16704	1551	54	3	360	3	TTC39A	1	51755785	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	870760	51755785	197494836	128	59261											
EPS15	2060	broad.mit.edu	37	chr1	51934212	51934212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatccattctgggcacatGccacaagacgcaaagcaaca	7	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:51934212G>A	uc001csq.1	-	5	334	c.242C>T	c.(241-243)GCA>GTA	p.A81V	EPS15_uc009vyz.1_Missense_Mutation_p.A81V	NM_001981	NP_001972	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway	81	EH 1.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding			lung(1)|kidney(1)	2						CTGGGCACATGCCACAAGACG	0.368			T	MLL	ALL								A	51934212	G	A	51934212	3	1	94	1	0	0	0	0	1	0	0	0	5192	1319	46	2	2630	2	EPS15	1	51934212	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	178427	51934212	197316409	129	59262											
EPS15	2060	broad.mit.edu	37	chr1	51938529	51938529	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttataatgaacgaatactAcctttccaagtatcaagtct	5	8	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:51938529A>G	uc001csq.1	-	3	257	c.165_splice	c.e3+1	p.K55_splice	EPS15_uc009vyz.1_Splice_Site_p.K55_splice	NM_001981	NP_001972	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway						cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding			lung(1)|kidney(1)	2						AACGAATACTACCTTTCCAAG	0.368			T	MLL	ALL								G	51938529	A	G	51938529	5	3	94	1	0	0	0	0	0	0	1	0	5192	405	14	3	2713	3	EPS15	1	51938529	Splice_Site	SNP	A	TCGA-BR-8487-01A-11D-2394-08	4317	51938529	197312092	130	59263											
FAM151A	338094	broad.mit.edu	37	chr1	55078225	55078225	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaccatggaagaccgtacaGggaaggtgaccctctggggc	15	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:55078225G>T	uc001cxn.2	-	5	866	c.734C>A	c.(733-735)CCT>CAT	p.P245H	ACOT11_uc001cxm.1_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	hypothetical protein LOC338094	245						integral to membrane					0						AGACCGTACAGGGAAGGTGAC	0.607													T	55078225	G	T	55078225	3	4	94	1	0	0	0	0	1	0	0	0	5458	1000	35	5	1039	5	FAM151A	1	55078225	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3139696	55078225	194172396	131	59264											
C1orf177	163747	broad.mit.edu	37	chr1	55282759	55282759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcctgagtggatccaaacGctacctctcagacctggccc	8	15	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:55282759G>A	uc001cyb.3	+	9	1202	c.1148G>A	c.(1147-1149)CGC>CAC	p.R383H	C1orf177_uc001cya.3_Missense_Mutation_p.R383H	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	hypothetical protein LOC163747 isoform 2	383											0						GGATCCAAACGCTACCTCTCA	0.617													A	55282759	G	A	55282759	3	1	94	1	0	0	0	0	1	0	0	0	2017	1087	38	1	1182	1	C1orf177	1	55282759	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	204534	55282759	193967862	132	59265											
PCSK9	255738	broad.mit.edu	37	chr1	55518043	55518043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtcatggtcaccgacttcGagaatgtgcccgaggaggac	15	10	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:55518043G>A	uc001cyf.1	+	4	907	c.616G>A	c.(616-618)GAG>AAG	p.E206K	PCSK9_uc010ool.1_RNA|PCSK9_uc010oom.1_RNA	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	206	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			ovary(2)|central_nervous_system(1)|skin(1)	4						CACCGACTTCGAGAATGTGCC	0.607													A	55518043	G	A	55518043	3	1	94	1	0	0	0	0	1	0	0	0	11606	1059	37	1	630	1	PCSK9	1	55518043	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	235284	55518043	193732578	133	59266											
PPAP2B	8613	broad.mit.edu	37	chr1	57002717	57002717	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggtacttgatgctctcatcAttgcagtaaaaccctcggtg	10	10	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:57002717A>T	uc001cyj.1	-	3	708	c.207T>A	c.(205-207)AAT>AAA	p.N69K		NM_177414	NP_803133	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	69	Lumenal (Potential).				canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity				0						TGCTCTCATCATTGCAGTAAA	0.527													T	57002717	A	T	57002717	3	4	94	1	0	0	0	0	1	0	0	0	12291	214	8	5	748	5	PPAP2B	1	57002717	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1484674	57002717	192247904	134	59267											
MYSM1	114803	broad.mit.edu	37	chr1	59125788	59125788	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcagccataaagcaatTggtcactttgctcagagtct	7	10	5	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:59125788T>C	uc009wab.1	-	20	2391	c.2368A>G	c.(2368-2370)AAT>GAT	p.N790D	uc001cza.2_5'Flank|MYSM1_uc009waa.1_Missense_Mutation_p.N196D|MYSM1_uc001czc.2_RNA	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	790					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(1)	1	all_cancers(7;9.36e-06)					ATAAAGCAATTGGTCACTTTG	0.333													C	59125788	T	C	59125788	3	2	94	1	0	0	0	0	1	0	0	0	10101	1812	63	3	122	3	MYSM1	1	59125788	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2123071	59125788	190124833	135	59268											
HOOK1	51361	broad.mit.edu	37	chr1	60314140	60314140	+	Frame_Shift_Del	DEL	A	A	-													gtcagcttagaagaagaattAaaaaaagcaaatgcagcacg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:60314140delA	uc009wad.2	+	12	1185	c.1083delA	c.(1081-1083)TTAfs	p.L361fs	HOOK1_uc001czo.2_Frame_Shift_Del_p.L361fs|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Frame_Shift_Del_p.L319fs	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	361	Potential.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)					AAGAAGAATTAAAAAAAGCAA	0.318													-	60314140	A	-	60314140	7	5	94	1	0	1	0	1	0	0	0	0	7282	359	13	0	1125	0	HOOK1	1	60314140	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	1188352	60314140	188936481	136	59269											
INADL	10207	broad.mit.edu	37	chr1	62365309	62365309	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaactccaaattttagccaCtggggtccaccgagaatgta	9	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:62365309C>A	uc001dab.2	+	23	3300	c.3186C>A	c.(3184-3186)CAC>CAA	p.H1062Q	INADL_uc009waf.1_Missense_Mutation_p.H1062Q|INADL_uc001daa.2_Missense_Mutation_p.H1062Q|INADL_uc001dad.3_Missense_Mutation_p.H759Q|INADL_uc001dac.2_RNA	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1062					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						ATTTTAGCCACTGGGGTCCAC	0.393													A	62365309	C	A	62365309	3	1	94	1	0	0	0	0	1	0	0	0	7731	564	20	5	3272	5	INADL	1	62365309	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2051169	62365309	186885312	137	59270											
KANK4	163782	broad.mit.edu	37	chr1	62738950	62738950	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtaggccgacagcagcAggttgagggagctcagcagc	16	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:62738950A>C	uc001dah.3	-	3	2203	c.1826T>G	c.(1825-1827)CTG>CGG	p.L609R	KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	609										ovary(3)|skin(2)|lung(1)	6						CGACAGCAGCAGGTTGAGGGA	0.642													C	62738950	A	C	62738950	3	2	94	1	0	0	0	0	1	0	0	0	7979	188	7	5	1193	5	KANK4	1	62738950	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	373641	62738950	186511671	138	59271											
KANK4	163782	broad.mit.edu	37	chr1	62740427	62740427	+	Frame_Shift_Del	DEL	G	G	-													actcctgcttgttgaggcctGgggggcattaccaagcggtg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:62740427delG	uc001dah.3	-	3	726	c.349delC	c.(349-351)CAGfs	p.Q117fs	KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	117										ovary(3)|skin(2)|lung(1)	6						GTTGAGGCCTGGGGGGCATTA	0.607													-	62740427	G	-	62740427	7	5	94	1	0	1	0	1	0	0	0	0	7979	1357	47	0	2670	0	KANK4	1	62740427	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	1477	62740427	186510194	139	59272											
CACHD1	57685	broad.mit.edu	37	chr1	65143987	65143987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacgttgatgacatgggaGcaataggtatgtttgttaga	12	5	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:65143987G>A	uc001dbo.1	+	23	3190	c.3085G>A	c.(3085-3087)GCA>ACA	p.A1029T	CACHD1_uc001dbp.1_Missense_Mutation_p.A784T|CACHD1_uc001dbq.1_Missense_Mutation_p.A784T|CACHD1_uc010opa.1_Missense_Mutation_p.A273T	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	1080	Extracellular (Potential).				calcium ion transport	integral to membrane				ovary(2)	2						TGACATGGGAGCAATAGGTAT	0.438													A	65143987	G	A	65143987	3	1	94	1	0	0	0	0	1	0	0	0	2537	971	34	2	3175	2	CACHD1	1	65143987	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2403560	65143987	184106634	140	59273											
DNAJC6	9829	broad.mit.edu	37	chr1	65877006	65877006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcataccgtactatgggCtggggagaccaagtggaaac	14	8	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:65877006C>T	uc001dcd.1	+	18	2701	c.2537C>T	c.(2536-2538)GCT>GTT	p.A846V	DNAJC6_uc010opc.1_Missense_Mutation_p.A833V|DNAJC6_uc001dce.1_Missense_Mutation_p.A903V	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	846					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						GTACTATGGGCTGGGGAGACC	0.483													T	65877006	C	T	65877006	3	4	94	1	0	0	0	0	1	0	0	0	4653	797	28	2	2607	2	DNAJC6	1	65877006	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	733019	65877006	183373615	141	59274											
C1orf173	127254	broad.mit.edu	37	chr1	75097559	75097559	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttggaagttgatatgaattCattctctgtgaattgcctat	8	5	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:75097559C>T	uc001dgg.2	-	7	876	c.657G>A	c.(655-657)ATG>ATA	p.M219I	C1orf173_uc001dgi.3_Missense_Mutation_p.M13I	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	219										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						GATATGAATTCATTCTCTGTG	0.393													T	75097559	C	T	75097559	3	4	94	1	0	0	0	0	1	0	0	0	2014	826	29	4	3967	4	C1orf173	1	75097559	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	9220553	75097559	174153062	142	59275											
USP33	23032	broad.mit.edu	37	chr1	78177504	78177504	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaatttggcaagtatgacaAatgtacagatggttgacagc	10	6	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:78177504A>G	uc001dht.2	-	22	2774	c.2427T>C	c.(2425-2427)ATT>ATC	p.I809I	USP33_uc001dhs.2_Silent_p.I530I|USP33_uc001dhu.2_Silent_p.I778I|USP33_uc001dhv.2_Silent_p.I614I|USP33_uc001dhw.2_Silent_p.I801I	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	809	DUSP 1.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3						AAGTATGACAAATGTACAGAT	0.323													G	78177504	A	G	78177504	2	3	94	1	0	0	0	0	0	0	0	1	17061	10	1	3		3	USP33	1	78177504	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	3079945	78177504	171073117	143	59276											
FAM73A	374986	broad.mit.edu	37	chr1	78326950	78326950	+	Frame_Shift_Del	DEL	T	T	-													gtttttgatgaaatgatctaTtttttagagcagaccgatca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:78326950delT	uc001dhx.2	+	12	1349	c.1317delT	c.(1315-1317)TATfs	p.Y439fs	FAM73A_uc010ork.1_Frame_Shift_Del_p.Y439fs|FAM73A_uc010orl.1_Frame_Shift_Del_p.Y401fs|FAM73A_uc001dhy.1_3'UTR	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	hypothetical protein LOC374986	439						integral to membrane				ovary(1)	1				Colorectal(170;0.226)		AAATGATCTATTTTTTAGAGC	0.308													-	78326950	T	-	78326950	7	5	94	1	0	1	0	1	0	0	0	0	5617	1500	52	0	1363	0	FAM73A	1	78326950	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	149446	78326950	170923671	144	59277											
IFI44L	10964	broad.mit.edu	37	chr1	79094073	79094073	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgtgaagtttttcgagTtgaaggtttgtaaaattaga	12	1	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:79094073T>C	uc010oro.1	+	2	652	c.473T>C	c.(472-474)GTT>GCT	p.V158A	IFI44L_uc010orp.1_Intron|IFI44L_uc010orq.1_Intron	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	158						cytoplasm					0						GTTTTTCGAGTTGAAGGTTTG	0.313													C	79094073	T	C	79094073	3	2	94	1	0	0	0	0	1	0	0	0	7518	1725	60	3	475	3	IFI44L	1	79094073	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	767123	79094073	170156548	145	59278											
TTLL7	79739	broad.mit.edu	37	chr1	84386822	84386822	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcgtgagatctgctttcGtacttgagcgagtctctctt	9	10	4	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:84386822G>A	uc001djc.2	-	12	1708	c.1312C>T	c.(1312-1314)CGA>TGA	p.R438*	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	438					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ATCTGCTTTCGTACTTGAGCG	0.313													A	84386822	G	A	84386822	4	1	94	1	0	0	0	0	0	1	0	0	16729	1153	40	1	1391	1	TTLL7	1	84386822	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	5292749	84386822	164863799	146	59279											
SSX2IP	117178	broad.mit.edu	37	chr1	85121543	85121543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcgaatagcggcttctGtaaagcttcgtctctccctc	9	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:85121543G>A	uc001dkh.2	-	12	1636	c.1361C>T	c.(1360-1362)ACA>ATA	p.T454I	SSX2IP_uc001dkf.2_Missense_Mutation_p.T426I|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Missense_Mutation_p.T427I|SSX2IP_uc001dki.2_Missense_Mutation_p.T454I|SSX2IP_uc010osa.1_Missense_Mutation_p.T427I|SSX2IP_uc001dkj.2_Missense_Mutation_p.T454I|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.T450I	NM_014021	NP_054740	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting	454	Potential.				cell adhesion	nucleus|protein complex				ovary(2)	2				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGCGGCTTCTGTAAAGCTTCG	0.423													A	85121543	G	A	85121543	3	1	94	1	0	0	0	0	1	0	0	0	15203	1377	48	4	499	4	SSX2IP	1	85121543	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	734721	85121543	164129078	147	59280											
ODF2L	57489	broad.mit.edu	37	chr1	86826142	86826143	+	Frame_Shift_Ins	INS	-	-	T													tttcaataagggttttctgtINStttttttctacttcttgcaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:86826141_86826142G>GT	uc001dll.2	-	11	1583_1584	c.1221_1222C>AC	c.(1219-1224)aaacagfs	p.K407fs	ODF2L_uc001dlp.3_Frame_Shift_Ins_p.K407fs|ODF2L_uc010osg.2_Frame_Shift_Ins_p.K378fs|ODF2L_uc001dlm.2_Frame_Shift_Ins_p.K378fs|ODF2L_uc021opg.1_Frame_Shift_Ins_p.K247fs|ODF2L_uc001dlq.2_Frame_Shift_Ins_p.K208fs|ODF2L_uc009wcr.2_Frame_Shift_Ins_p.K247fs	NM_001007022	NP_001007023	Q9ULJ1	ODF2L_HUMAN	Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA.	407						centrosome		p.K378fs*22(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		AGGGTTTTCTGTTTTTTTTCTA	0.287													T	86826143	-	T	86826142	7	5	94	1	0	1	1	0	0	0	0	0	10828	1722	60	0	893	0	ODF2L	1	86826142	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1704599	86826142	162424479	148	59281											
PKN2	5586	broad.mit.edu	37	chr1	89250378	89250378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctagagaatgtccctggaCggtcaaaagcaacatcagtt	9	10	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:89250378C>T	uc001dmn.2	+	7	1384	c.1042C>T	c.(1042-1044)CGG>TGG	p.R348W	PKN2_uc001dmm.1_Missense_Mutation_p.R348W|PKN2_uc010osp.1_Missense_Mutation_p.R348W|PKN2_uc010osq.1_Missense_Mutation_p.R191W|PKN2_uc009wcv.2_Missense_Mutation_p.R348W|PKN2_uc010osr.1_Missense_Mutation_p.R13W	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	348	C2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TGTCCCTGGACGGTCAAAAGC	0.428													T	89250378	C	T	89250378	3	4	94	1	0	0	0	0	1	0	0	0	11980	527	19	1	1068	1	PKN2	1	89250378	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2424236	89250378	160000243	149	59282											
GBP5	115362	broad.mit.edu	37	chr1	89733145	89733145	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caattttgttcacagtattgTacacaaaggtgctgctcagt	8	8	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:89733145T>C	uc001dnc.2	-	5	920	c.383A>G	c.(382-384)TAC>TGC	p.Y128C	GBP5_uc001dnd.2_Missense_Mutation_p.Y128C|GBP5_uc001dne.1_Missense_Mutation_p.Y128C	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	128						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)		CACAGTATTGTACACAAAGGT	0.433													C	89733145	T	C	89733145	3	2	94	1	0	0	0	0	1	0	0	0	6277	1638	57	3	1409	3	GBP5	1	89733145	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	482767	89733145	159517476	150	59283											
DNTTIP2	30836	broad.mit.edu	37	chr1	94335461	94335461	+	Frame_Shift_Del	DEL	T	T	-													tttcctgctgcatttgctgcTttttcagccatgatctctga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:94335461delT	uc001dqf.2	-	7	2255	c.2217delA	c.(2215-2217)AAAfs	p.K739fs	DNTTIP2_uc010otm.1_RNA	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal,	739					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CATTTGCTGCTTTTTCAGCCA	0.328													-	94335461	T	-	94335461	7	5	94	1	0	1	0	1	0	0	0	0	4682	1606	56	0	57	0	DNTTIP2	1	94335461	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	4602316	94335461	154915160	151	59284											
ARHGAP29	9411	broad.mit.edu	37	chr1	94650428	94650428	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttaagagttataatgtacCtgtagacacaaagctctatt	6	6	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:94650428C>A	uc001dqj.3	-	18	2478	c.2109G>T	c.(2107-2109)CAG>CAT	p.Q703H	ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Missense_Mutation_p.Q269H	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	703	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TATAATGTACCTGTAGACACA	0.328													A	94650428	C	A	94650428	3	1	94	1	0	0	0	0	1	0	0	0	878	695	24	5	1700	5	ARHGAP29	1	94650428	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	314967	94650428	154600193	152	59285											
LRRC39	127495	broad.mit.edu	37	chr1	100614640	100614640	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggtaaagtagttgaaccGttgacttggtgatctgaaac	11	5	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:100614640G>A	uc001dsw.1	-	10	1165	c.966C>T	c.(964-966)AAC>AAT	p.N322N	CCDC76_uc001dsv.2_3'UTR|CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_3'UTR|LRRC39_uc001dsx.1_Silent_p.N322N|LRRC39_uc001dsy.1_3'UTR|LRRC39_uc001dsz.1_Silent_p.N322N	NM_144620	NP_653221	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	322										ovary(2)|skin(1)	3		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TAGTTGAACCGTTGACTTGGT	0.303													A	100614640	G	A	100614640	2	1	94	1	0	0	0	0	0	0	0	1	8995	1136	40	1		1	LRRC39	1	100614640	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	5964212	100614640	148635981	153	59286											
CDC14A	8556	broad.mit.edu	37	chr1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-													gcactcctgtctggctcaaaCcccccctatcttccattcag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:100889837delC	uc001dtg.3	+	5	857	c.369delC	c.(367-369)AACfs	p.N123fs	CDC14A_uc009web.2_RNA|CDC14A_uc010oui.1_Frame_Shift_Del_p.N65fs|CDC14A_uc001dte.3_Frame_Shift_Del_p.N123fs|CDC14A_uc001dtf.2_Frame_Shift_Del_p.N123fs|CDC14A_uc009wed.1_5'UTR|CDC14A_uc009wee.2_Frame_Shift_Del_p.N123fs	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN	CDC14 homolog A isoform 1	123	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)	1		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CTGGCTCAAACCCCCCCTATC	0.403													-	100889837	C	-	100889837	7	5	94	1	0	1	0	1	0	0	0	0	3056	506	18	0	387	0	CDC14A	1	100889837	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	275197	100889837	148360784	154	59287											
COL11A1	1301	broad.mit.edu	37	chr1	103385868	103385868	+	Splice_Site	DEL	T	T	-													gtgtcactaacatatttaccTtttctccaacaccaccaact							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:103385867_103385867CT>C	uc001dum.3	-	49	4116	c.3798_splice	c.e49+1	p.K1266_splice	COL11A1_uc001duk.3_Splice_Site_p.K450_splice|COL11A1_uc001dul.3_Splice_Site_p.K1254_splice|COL11A1_uc001dun.3_Splice_Site_p.K1215_splice|COL11A1_uc009weh.3_Splice_Site_p.K1138_splice	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1254	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACATATTTACCTTTTCTCCAA	0.368													-	103385868	T	-	103385868	8	5	94	1	0	1	0	1	0	0	1	0	3667	1623	56	0	1735	0	COL11A1	1	103385868	Splice_Site	DEL	T	TCGA-BR-8487-01A-11D-2394-08	2496031	103385868	145864753	155	59288											
COL11A1	1301	broad.mit.edu	37	chr1	103387077	103387077	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatttcagagttcttacatcAgctccattgggaccttgagg	9	9	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:103387077A>C	uc001dul.2	-	48	4023	c.3705T>G	c.(3703-3705)GCT>GCG	p.A1235A	COL11A1_uc001duk.2_Silent_p.A431A|COL11A1_uc001dum.2_Silent_p.A1247A|COL11A1_uc001dun.2_Silent_p.A1196A|COL11A1_uc009weh.2_Silent_p.A1119A	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1235	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTCTTACATCAGCTCCATTGG	0.358													C	103387077	A	C	103387077	2	2	94	1	0	0	0	0	0	0	0	1	3667	175	7	5		5	COL11A1	1	103387077	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1209	103387077	145863544	156	59289											
AMY2B	280	broad.mit.edu	37	chr1	104120455	104120455	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaggattcattgttttcaAcaatgatgactggtaagtac	9	6	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:104120455A>G	uc001duq.2	+	11	1950	c.1334A>G	c.(1333-1335)AAC>AGC	p.N445S	AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.N445S|AMY2B_uc001dus.1_RNA	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	445					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ATTGTTTTCAACAATGATGAC	0.353													G	104120455	A	G	104120455	3	3	94	1	0	0	0	0	1	0	0	0	595	43	2	3	1368	3	AMY2B	1	104120455	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	733378	104120455	145130166	157	59290											
PRMT6	55170	broad.mit.edu	37	chr1	107599615	107599615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggacgtgggcgcgggcaCcggcattctgagcatcttct	14	12	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:107599615C>T	uc010ous.1	+	1	349	c.278C>T	c.(277-279)ACC>ATC	p.T93I		NM_018137	NP_060607	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	93					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity				0		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GGCGCGGGCACCGGCATTCTG	0.687													T	107599615	C	T	107599615	3	4	94	1	0	0	0	0	1	0	0	0	12540	507	18	4	280	4	PRMT6	1	107599615	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3479160	107599615	141651006	158	59291											
NTNG1	22854	broad.mit.edu	37	chr1	107867286	107867286	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcatttgcacagaagagtActcaacagggtatacaacaa	7	8	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:107867286A>G	uc001dvh.3	+	3	1347	c.629A>G	c.(628-630)TAC>TGC	p.Y210C	NTNG1_uc001dvf.3_Missense_Mutation_p.Y210C|NTNG1_uc010out.1_Missense_Mutation_p.Y210C|NTNG1_uc001dvc.3_Missense_Mutation_p.Y210C|NTNG1_uc001dvd.1_Missense_Mutation_p.Y210C	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	210	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ACAGAAGAGTACTCAACAGGG	0.408													G	107867286	A	G	107867286	3	3	94	1	0	0	0	0	1	0	0	0	10704	391	14	3	635	3	NTNG1	1	107867286	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	267671	107867286	141383335	159	59292											
CELSR2	1952	broad.mit.edu	37	chr1	109793004	109793004	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaatccgaggcccatatTcccctaccaccagctcctga	6	18	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:109793004T>C	uc001dxa.3	+	1	364	c.303T>C	c.(301-303)ATT>ATC	p.I101I		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	101	Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGGCCCATATTCCCCTACCAC	0.647													C	109793004	T	C	109793004	2	2	94	1	0	0	0	0	0	0	0	1	3222	1771	62	3		3	CELSR2	1	109793004	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1925718	109793004	139457617	160	59293											
CELSR2	1952	broad.mit.edu	37	chr1	109816666	109816666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcttctttaacttcctgCattaaccctgggccgtggtt	7	12	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:109816666C>T	uc001dxa.3	+	34	8828	c.8767C>T	c.(8767-8769)CAT>TAT	p.H2923Y		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2923	Cytoplasmic (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TAACTTCCTGCATTAACCCTG	0.547													T	109816666	C	T	109816666	3	4	94	1	0	0	0	0	1	0	0	0	3222	710	25	2	8901	2	CELSR2	1	109816666	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	23662	109816666	139433955	161	59294											
SORT1	6272	broad.mit.edu	37	chr1	109859557	109859557	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatttaccccaccctggcatTtgtcccctggaattttccgg	8	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:109859557T>C	uc001dxm.1	-	17	2214	c.2165A>G	c.(2164-2166)AAA>AGA	p.K722R	SORT1_uc010ovi.1_Missense_Mutation_p.K585R	NM_002959	NP_002950	Q99523	SORT_HUMAN	sortilin 1 preproprotein	722	Interactions with LRPAP1 and NGFB.|Extracellular (Potential).				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			ovary(1)	1		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ACCCTGGCATTTGTCCCCTGG	0.408													C	109859557	T	C	109859557	3	2	94	1	0	0	0	0	1	0	0	0	14935	1841	64	3	346	3	SORT1	1	109859557	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	42891	109859557	139391064	162	59295											
AMPD2	271	broad.mit.edu	37	chr1	110168804	110168804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggagccagacatcctgcttCgggccaagcaagatttcctg	11	12	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:110168804C>T	uc009wfh.1	+	5	1080	c.538C>T	c.(538-540)CGG>TGG	p.R180W	AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Missense_Mutation_p.R99W|AMPD2_uc001dyc.1_Missense_Mutation_p.R180W|AMPD2_uc010ovr.1_Missense_Mutation_p.R105W|AMPD2_uc010ovs.1_Missense_Mutation_p.R62W|AMPD2_uc001dyd.1_Missense_Mutation_p.R61W	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2 (isoform L)	180					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|breast(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CATCCTGCTTCGGGCCAAGCA	0.572													T	110168804	C	T	110168804	3	4	94	1	0	0	0	0	1	0	0	0	586	875	31	1	593	1	AMPD2	1	110168804	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	309247	110168804	139081817	163	59296											
AMPD2	271	broad.mit.edu	37	chr1	110169810	110169810	+	Frame_Shift_Del	DEL	C	C	-													cctgcagatgccccggtgcaCccccctgcgctggagcagca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:110169809_110169809AC>A	uc009wfh.1	+	7	1435	c.893_893AC>A	c.(892-894)cacfs	p.H298fs	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Frame_Shift_Del_p.H217fs|AMPD2_uc001dyc.1_Frame_Shift_Del_p.H298fs|AMPD2_uc010ovr.1_Frame_Shift_Del_p.H223fs|AMPD2_uc010ovs.1_Frame_Shift_Del_p.H180fs|AMPD2_uc001dyd.1_Frame_Shift_Del_p.H179fs|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	298					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCCCGGTGCACCCCCCTGCG	0.652													-	110169810	C	-	110169810	7	5	94	1	0	1	0	1	0	0	0	0	586	506	18	0	961	0	AMPD2	1	110169810	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	1006	110169810	139080811	164	59297											
AMPD2	271	broad.mit.edu	37	chr1	110171361	110171361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagtgggacaagctggcgCgctgggccgtcatgcaccgc	16	12	1	1	rs116156816	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:110171361C>T	uc009wfh.1	+	13	2208	c.1666C>T	c.(1666-1668)CGC>TGC	p.R556C	AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Missense_Mutation_p.R475C|AMPD2_uc001dyc.1_Missense_Mutation_p.R556C|AMPD2_uc010ovr.1_Missense_Mutation_p.R481C|AMPD2_uc001dyd.1_Missense_Mutation_p.R437C|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2 (isoform L)	556					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|breast(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CAAGCTGGCGCGCTGGGCCGT	0.642													T	110171361	C	T	110171361	3	4	94	1	0	0	0	0	1	0	0	0	586	768	27	1	1753	1	AMPD2	1	110171361	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1551	110171361	139079260	165	59298											
KCNC4	3749	broad.mit.edu	37	chr1	110754584	110754584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accggcagcaccgcgacgccGaggaggcgctcgacatcttc	13	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:110754584G>A	uc001dzh.2	+	1	520	c.463G>A	c.(463-465)GAG>AAG	p.E155K	KCNC4_uc001dzf.2_Missense_Mutation_p.E155K|KCNC4_uc009wfr.2_Missense_Mutation_p.E155K|KCNC4_uc001dzg.2_Missense_Mutation_p.E155K|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	155	Cytoplasmic (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCGCGACGCCGAGGAGGCGCT	0.716													A	110754584	G	A	110754584	3	1	94	1	0	0	0	0	1	0	0	0	8017	1059	37	1	465	1	KCNC4	1	110754584	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	583223	110754584	138496037	166	59299											
KCNA2	3737	broad.mit.edu	37	chr1	111146992	111146992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcattttcaggcagaggaCgctcttcctccttgatgtag	9	11	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:111146992C>T	uc001dzu.2	-	2	909	c.413G>A	c.(412-414)CGT>CAT	p.R138H	KCNA2_uc009wfv.1_Missense_Mutation_p.R138H|KCNA2_uc009wfw.2_Missense_Mutation_p.R138H	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	138						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		AGGCAGAGGACGCTCTTCCTC	0.458													T	111146992	C	T	111146992	3	4	94	1	0	0	0	0	1	0	0	0	8003	536	19	1	1090	1	KCNA2	1	111146992	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	392408	111146992	138103629	167	59300											
KCNA3	3738	broad.mit.edu	37	chr1	111216110	111216110	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgtaacccactgttgtcatgGttaccactgcccaccagaag	8	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:111216110G>C	uc001dzv.1	-	1	1546	c.1322C>G	c.(1321-1323)ACC>AGC	p.T441S		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	441						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTTGTCATGGTTACCACTGC	0.572													C	111216110	G	C	111216110	3	2	94	1	0	0	0	0	1	0	0	0	8004	1261	44	5	409	5	KCNA3	1	111216110	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	69118	111216110	138034511	168	59301											
KCNA3	3738	broad.mit.edu	37	chr1	111217007	111217007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagtactcgttgcggagcGggtcgaagtacctcatgcgc	14	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:111217007G>A	uc001dzv.1	-	1	649	c.425C>T	c.(424-426)CCG>CTG	p.P142L		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	142						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGCGGAGCGGGTCGAAGTA	0.647													A	111217007	G	A	111217007	3	1	94	1	0	0	0	0	1	0	0	0	8004	1116	39	1	1306	1	KCNA3	1	111217007	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	897	111217007	138033614	169	59302											
CD53	963	broad.mit.edu	37	chr1	111437656	111437656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaatagcaccaaggcagcGtgggactccatccagtcatt	10	12	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:111437656G>A	uc001dzw.2	+	6	573	c.402G>A	c.(400-402)GCG>GCA	p.A134A	CD53_uc001dzx.2_Silent_p.A134A|CD53_uc010owa.1_Intron|CD53_uc001dzy.2_Silent_p.A134A	NM_001040033	NP_001035122	P19397	CD53_HUMAN	CD53 antigen	134	Extracellular (Potential).				signal transduction	integral to membrane|plasma membrane					0		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CCAAGGCAGCGTGGGACTCCA	0.507													A	111437656	G	A	111437656	2	1	94	1	0	0	0	0	0	0	0	1	3023	1132	40	1		1	CD53	1	111437656	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	220649	111437656	137812965	170	59303											
CEPT1	10390	broad.mit.edu	37	chr1	111690562	111690562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggtattgggaatggctcGttagaagagttccctcctgg	14	7	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:111690562G>A	uc001eah.1	+	2	434	c.226G>A	c.(226-228)GTT>ATT	p.V76I	CEPT1_uc001eag.2_Missense_Mutation_p.V76I|CEPT1_uc001eai.1_Missense_Mutation_p.V76I|CEPT1_uc001eaj.1_Missense_Mutation_p.V76I	NM_001007794	NP_001007795	Q9Y6K0	CEPT1_HUMAN	choline/ethanolaminephosphotransferase	76						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding				0		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	GGAATGGCTCGTTAGAAGAGT	0.443													A	111690562	G	A	111690562	3	1	94	1	0	0	0	0	1	0	0	0	3264	1145	40	1	228	1	CEPT1	1	111690562	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	252906	111690562	137560059	171	59304											
ADORA3	140	broad.mit.edu	37	chr1	112045810	112045811	+	Frame_Shift_Ins	INS	-	-	T													cccaacagcaatgtcagccaINSgggctagagagacaatgaaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:112045810_112045811insT	uc001ebh.3	-	1	933_934	c.166_167insA	c.(166-168)CTGfs	p.L56fs	ADORA3_uc001ebg.3_Intron|ADORA3_uc001ebf.2_Frame_Shift_Ins_p.L56fs	NM_000677	NP_000668	P33765	AA3R_HUMAN	adenosine A3 receptor isoform 2	56	Helical; Name=2; (By similarity).				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			ovary(2)|large_intestine(1)|skin(1)	4		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AATGTCAGCCAGGGCTAGAGAG	0.535													T	112045811	-	T	112045810	7	5	94	1	0	1	1	0	0	0	0	0	329	188	7	0	1511	0	ADORA3	1	112045810	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	355248	112045810	137204811	172	59305	261	2									
ADORA3	140	broad.mit.edu	37	chr1	112045811	112045812	+	Frame_Shift_Ins	INS	-	-	T													ccaacagcaatgtcagccagINSggctagagagacaatgaaat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:112045810_112045811A>AT	uc001ebh.4	-	0	933_934	c.166_167T>AT	c.(166-168)ctgfs	p.L56fs	ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Frame_Shift_Ins_p.L56fs	NM_000677	NP_000668	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA.	56					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AATGTCAGCCAGGGCTAGAGAG	0.535													T	112045812	-	T	112045811	7	5	94	1	0	1	1	0	0	0	0	0	329	991	35	0	1512	0	ADORA3	1	112045811	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	112045811	137204810	173	59306	261	2									
KCND3	3752	broad.mit.edu	37	chr1	112525093	112525093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggaacacctcggggtcccGgtcgaagaagtactccttgg	14	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:112525093G>A	uc001ebu.1	-	2	736	c.256C>T	c.(256-258)CGG>TGG	p.R86W	KCND3_uc001ebv.1_Missense_Mutation_p.R86W	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	86	Cytoplasmic (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TCGGGGTCCCGGTCGAAGAAG	0.627													A	112525093	G	A	112525093	3	1	94	1	0	0	0	0	1	0	0	0	8020	1115	39	1	1739	1	KCND3	1	112525093	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	479282	112525093	136725528	174	59307											
WNT2B	7482	broad.mit.edu	37	chr1	113051996	113051996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggctcccgggcttcggccCgcctaggtcttgcctgcctt	12	17	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:113051996C>T	uc001ecb.2	+	1	627	c.112C>T	c.(112-114)CGC>TGC	p.R38C	WNT2B_uc001eca.2_Intron|WNT2B_uc009wgg.2_Intron	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family,	38					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			ovary(2)|breast(2)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCTTCGGCCCGCCTAGGTCT	0.736													T	113051996	C	T	113051996	3	4	94	1	0	0	0	0	1	0	0	0	17384	652	23	1	247	1	WNT2B	1	113051996	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	526903	113051996	136198625	175	59308											
WNT2B	7482	broad.mit.edu	37	chr1	113059031	113059031	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttacataataaccgctgtGgtcgcacggtcagtactcat	8	11	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:113059031G>T	uc001ecb.2	+	3	1188	c.673G>T	c.(673-675)GGT>TGT	p.G225C	WNT2B_uc001eca.2_Missense_Mutation_p.G206C|WNT2B_uc009wgg.2_Missense_Mutation_p.G133C	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family,	225					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			ovary(2)|breast(2)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAACCGCTGTGGTCGCACGGT	0.498													T	113059031	G	T	113059031	3	4	94	1	0	0	0	0	1	0	0	0	17384	1348	47	5	816	5	WNT2B	1	113059031	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	7035	113059031	136191590	176	59309											
MOV10	4343	broad.mit.edu	37	chr1	113243060	113243060	+	Frame_Shift_Del	DEL	C	C	-													ccccacagccatgactacctCccccaggagcgggagggtga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:113243060delC	uc001eck.2	+	21	3213	c.2943delC	c.(2941-2943)CTCfs	p.L981fs	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Frame_Shift_Del_p.L981fs|MOV10_uc001ecm.2_Frame_Shift_Del_p.L921fs	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	981					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		ATGACTACCTCCCCCAGGAGC	0.612													-	113243060	C	-	113243060	7	5	94	1	0	1	0	1	0	0	0	0	9718	842	30	0	3021	0	MOV10	1	113243060	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	184029	113243060	136007561	177	59310											
MAGI3	260425	broad.mit.edu	37	chr1	114216007	114216007	+	Frame_Shift_Del	DEL	G	G	-													gctttggattcagcctccgaGgggggaaggagtacaacatg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:114216007delG	uc001edk.2	+	19	3290	c.3109delG	c.(3109-3111)GGGfs	p.G1037fs	MAGI3_uc001edh.3_Frame_Shift_Del_p.G1062fs|MAGI3_uc001edi.3_Frame_Shift_Del_p.G1037fs|MAGI3_uc010owm.1_Frame_Shift_Del_p.G1062fs|MAGI3_uc001edj.2_Frame_Shift_Del_p.G758fs	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	1062	PDZ 6.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCCTCCGAGGGGGGAAGGA	0.488													-	114216007	G	-	114216007	7	5	94	1	0	1	0	1	0	0	0	0	9192	1000	35	0	3183	0	MAGI3	1	114216007	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	972947	114216007	135034614	178	59311											
AP4B1	10717	broad.mit.edu	37	chr1	114442813	114442813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagcaaaggtcccttgaccCgcacaaggacatcagtttgt	9	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:114442813C>T	uc001eeb.2	-	5	970	c.827G>A	c.(826-828)CGG>CAG	p.R276Q	uc001edv.1_RNA|AP4B1_uc001eec.2_Missense_Mutation_p.R108Q|AP4B1_uc001eed.2_Missense_Mutation_p.R276Q|AP4B1_uc010owp.1_Missense_Mutation_p.R177Q|AP4B1_uc001eea.1_Missense_Mutation_p.R70Q|AP4B1_uc010owq.1_Missense_Mutation_p.R183Q	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1	276					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			ovary(3)|central_nervous_system(1)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCCTTGACCCGCACAAGGAC	0.483													T	114442813	C	T	114442813	3	4	94	1	0	0	0	0	1	0	0	0	751	652	23	1	1416	1	AP4B1	1	114442813	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	226806	114442813	134807808	179	59312											
NGF	4803	broad.mit.edu	37	chr1	115829340	115829340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatggtgtgtcctgcagggAcattgctctctgagtgtggt	16	7	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:115829340A>G	uc001efu.1	-	3	246	c.77T>C	c.(76-78)GTC>GCC	p.V26A		NM_002506	NP_002497	P01138	NGF_HUMAN	nerve growth factor, beta polypeptide precursor	26					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			upper_aerodigestive_tract(2)	2	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCCTGCAGGGACATTGCTCTC	0.547													G	115829340	A	G	115829340	3	3	94	1	0	0	0	0	1	0	0	0	10395	275	10	3	652	3	NGF	1	115829340	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1386527	115829340	133421281	180	59313											
NHLH2	4808	broad.mit.edu	37	chr1	116380755	116380755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctcgcgggtggcgtgggccGagcggtacttggccgtggcg	21	11	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:116380755G>A	uc009wgz.2	-	2	744	c.239C>T	c.(238-240)TCG>TTG	p.S80L	NHLH2_uc001efy.2_Missense_Mutation_p.S80L	NM_001111061	NP_001104531	Q02577	HEN2_HUMAN	nescient helix loop helix 2	80	Basic motif.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GGCGTGGGCCGAGCGGTACTT	0.726													A	116380755	G	A	116380755	3	1	94	1	0	0	0	0	1	0	0	0	10404	1059	37	1	172	1	NHLH2	1	116380755	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	551415	116380755	132869866	181	59314											
WDR3	10885	broad.mit.edu	37	chr1	118481113	118481113	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttttagtgggaaagatAccatggtgaaatggtgggac	13	5	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:118481113A>G	uc010oxe.1	+	5	577	c.511A>G	c.(511-513)ACC>GCC	p.T171A	WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_Translation_Start_Site	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	171	WD 4.					nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TGGGAAAGATACCATGGTGAA	0.413													G	118481113	A	G	118481113	3	3	94	1	0	0	0	0	1	0	0	0	17282	391	14	3	525	3	WDR3	1	118481113	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	2100358	118481113	130769508	182	59315											
SPAG17	200162	broad.mit.edu	37	chr1	118693898	118693898	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatactgaagagtttacgcTgagggacctggacagccacg	12	11	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:118693898T>C	uc001ehk.2	-	2	250	c.182A>G	c.(181-183)CAG>CGG	p.Q61R		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	61						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GAGTTTACGCTGAGGGACCTG	0.468													C	118693898	T	C	118693898	3	2	94	1	0	0	0	0	1	0	0	0	14979	1580	55	3	6677	3	SPAG17	1	118693898	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	212785	118693898	130556723	183	59316											
WARS2	10352	broad.mit.edu	37	chr1	119575743	119575743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcatgcccgcgctgcggcGcaccacttcctccacggaga	11	17	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:119575743G>A	uc001ehn.2	-	6	902	c.874C>T	c.(874-876)CGC>TGC	p.R292C	WARS2_uc010oxf.1_Missense_Mutation_p.R198C|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.R235C|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	292					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GCGCTGCGGCGCACCACTTCC	0.602													A	119575743	G	A	119575743	3	1	94	1	0	0	0	0	1	0	0	0	17247	1087	38	1	212	1	WARS2	1	119575743	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	881845	119575743	129674878	184	59317											
HSD3B1	3283	broad.mit.edu	37	chr1	120057096	120057096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatcgaccgcccttcaaccGccacatagtcacattgtcaa	5	16	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:120057096G>A	uc001ehv.1	+	4	1095	c.950G>A	c.(949-951)CGC>CAC	p.R317H	HSD3B1_uc001ehw.2_Missense_Mutation_p.R319H	NM_000862	NP_000853	P14060	3BHS1_HUMAN	3 beta-hydroxysteroid dehydrogenase 1	317					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CCCTTCAACCGCCACATAGTC	0.478													A	120057096	G	A	120057096	3	1	94	1	0	0	0	0	1	0	0	0	7390	1087	38	1	960	1	HSD3B1	1	120057096	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	481353	120057096	129193525	185	59318											
PDE4DIP	9659	broad.mit.edu	37	chr1	144857026	144857026	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcttcattactggagaAgtatccaaacccaagcctga	10	10	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:144857026A>G	uc001elw.3	-	40	6750	c.6459T>C	c.(6457-6459)ACT>ACC	p.T2153T	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.T2047T|PDE4DIP_uc001elv.3_Silent_p.T1160T	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	2153					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTACTGGAGAAGTATCCAAAC	0.433			T	PDGFRB	MPD								G	144857026	A	G	144857026	2	3	94	1	0	0	0	0	0	0	0	1	11643	59	3	3		3	PDE4DIP	1	144857026	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	24799930	144857026	104393595	186	59319											
HFE2	148738	broad.mit.edu	37	chr1	145415499	145415499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctcgccttccattcggcGgtacatggcatcgaagacct	10	14	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:145415499G>A	uc001eni.2	+	3	643	c.318G>A	c.(316-318)GCG>GCA	p.A106A	NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Intron|HFE2_uc001enk.2_5'UTR|HFE2_uc001enl.2_Intron	NM_213653	NP_998818	Q6ZVN8	RGMC_HUMAN	hemojuvelin isoform a precursor	106					axon guidance	anchored to membrane				ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCATTCGGCGGTACATGGCA	0.617													A	145415499	G	A	145415499	2	1	94	1	0	0	0	0	0	0	0	1	7082	1103	39	1		1	HFE2	1	145415499	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	558473	145415499	103835122	187	59320											
ANKRD34A	284615	broad.mit.edu	37	chr1	145473439	145473439	+	Frame_Shift_Del	DEL	G	G	-													gtgaatgagggtgatgcgcaGggggagactgcgctaatggc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:145473439delG	uc001enq.1	+	4	1404	c.111delG	c.(109-111)CAGfs	p.Q37fs	NBPF10_uc001emp.3_Intron	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	37	ANK 2.										0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGATGCGCAGGGGGAGACTG	0.657													-	145473439	G	-	145473439	7	5	94	1	0	1	0	1	0	0	0	0	662	991	35	0	113	0	ANKRD34A	1	145473439	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	57940	145473439	103777182	188	59321											
ITGA10	8515	broad.mit.edu	37	chr1	145537735	145537736	+	Splice_Site	DEL	AG	AG	-													atctccattcccctgccctcAgagagagagcccaataaagg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:145537734_145537735CAG>C	uc001eoa.3	+	21	2651	c.2575_splice	c.e21-2	p.R859_splice	ITGA10_uc010oyv.2_Splice_Site_p.R728_splice|ITGA10_uc009wiw.3_Splice_Site_p.R716_splice|ITGA10_uc010oyw.2_Splice_Site_p.R804_splice	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	859					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCCTGCCCTCAGAGAGAGAGC	0.579													-	145537736	AG	-	145537735	8	5	94	1	0	1	0	1	0	0	1	0	7873	202	7	0	2655	0	ITGA10	1	145537735	Splice_Site	DEL	AG	TCGA-BR-8487-01A-11D-2394-08	64296	145537735	103712886	189	59322											
PRKAB2	5565	broad.mit.edu	37	chr1	146638125	146638125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaatctaactttaaagcatCgaacacctcaaaatcagatt	4	9	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:146638125C>T	uc001epe.2	-	5	635	c.490G>A	c.(490-492)GAT>AAT	p.D164N	PRKAB2_uc010ozm.1_Missense_Mutation_p.D82N|PRKAB2_uc010ozn.1_Intron|PRKAB2_uc009wjf.1_Missense_Mutation_p.D164N	NM_005399	NP_005390	O43741	AAKB2_HUMAN	AMP-activated protein kinase beta 2	164					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				lung(2)|skin(1)	3	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	TTTAAAGCATCGAACACCTCA	0.348													T	146638125	C	T	146638125	3	4	94	1	0	0	0	0	1	0	0	0	12496	884	31	1	344	1	PRKAB2	1	146638125	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1100390	146638125	102612496	190	59323											
HIST2H2BE	8349	broad.mit.edu	37	chr1	149857996	149857996	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgaagatgtcgttgacgaaGgagttcatgatgcccatggc	13	8	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:149857996G>T	uc001etc.2	-	1	237	c.195C>A	c.(193-195)TCC>TCA	p.S65S	HIST2H2AC_uc001etd.2_5'Flank	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	65					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGTTGACGAAGGAGTTCATGA	0.607													T	149857996	G	T	149857996	2	4	94	1	0	0	0	0	0	0	0	1	7179	987	35	5		5	HIST2H2BE	1	149857996	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3219871	149857996	99392625	191	59324											
MTMR11	10903	broad.mit.edu	37	chr1	149905314	149905314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccaggcaggcagagggCcctcagcctcaggtgggcaa	14	14	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:149905314C>T	uc001etl.3	-	10	1221	c.970G>A	c.(970-972)GCC>ACC	p.A324T	MTMR11_uc001etm.1_Missense_Mutation_p.A252T|MTMR11_uc010pbm.1_Missense_Mutation_p.A296T|MTMR11_uc010pbn.1_Missense_Mutation_p.A166T	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	324	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AGGCAGAGGGCCCTCAGCCTC	0.557													T	149905314	C	T	149905314	3	4	94	1	0	0	0	0	1	0	0	0	9940	739	26	2	1230	2	MTMR11	1	149905314	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	47318	149905314	99345307	192	59325											
CA14	23632	broad.mit.edu	37	chr1	150235500	150235500	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctccccaaacagctggggCagtacttccgctacaatggc	10	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:150235500C>T	uc001etx.2	+	7	931	c.622C>T	c.(622-624)CAG>TAG	p.Q208*		NM_012113	NP_036245	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV precursor	208	Extracellular (Potential).					integral to membrane	carbonate dehydratase activity|metal ion binding			ovary(1)	1	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACAGCTGGGGCAGTACTTCCG	0.517													T	150235500	C	T	150235500	4	4	94	1	0	0	0	0	0	1	0	0	2515	711	25	2	648	2	CA14	1	150235500	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	330186	150235500	99015121	193	59326											
C1orf54	79630	broad.mit.edu	37	chr1	150252086	150252086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgatgccgtgtccagtttGcgaagtcctattcccctcct	8	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:150252086G>A	uc001eud.2	+	5	371	c.333G>A	c.(331-333)TTG>TTA	p.L111L	C1orf54_uc001euc.2_Silent_p.L112L|C1orf54_uc001eue.2_Intron|C1orf54_uc001euf.2_Silent_p.L111L|C1orf54_uc001eug.2_Intron|C1orf51_uc001euh.2_5'Flank|C1orf51_uc001eui.2_5'Flank	NM_024579	NP_078855	Q8WWF1	CA054_HUMAN	hypothetical protein LOC79630 precursor	111						extracellular region					0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTCCAGTTTGCGAAGTCCTA	0.527													A	150252086	G	A	150252086	2	1	94	1	0	0	0	0	0	0	0	1	2046	1310	46	2		2	C1orf54	1	150252086	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	16586	150252086	98998535	194	59327											
RPRD2	23248	broad.mit.edu	37	chr1	150444477	150444477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgcttaaaaacgcctcacGtaagccctcagatgataagc	7	11	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:150444477G>A	uc009wlr.2	+	11	3254	c.3053G>A	c.(3052-3054)CGT>CAT	p.R1018H	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.R992H	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	1018							protein binding			ovary(1)	1						AACGCCTCACGTAAGCCCTCA	0.537													A	150444477	G	A	150444477	3	1	94	1	0	0	0	0	1	0	0	0	13617	1145	40	1	3095	1	RPRD2	1	150444477	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	192391	150444477	98806144	195	59328											
FAM63A	55793	broad.mit.edu	37	chr1	150970118	150970118	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgcagtgacaggacccgCgtccgcatccgcactggctg	12	16	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:150970118C>T	uc001ewf.2	-	10	2995	c.1311G>A	c.(1309-1311)ACG>ACA	p.T437T	FAM63A_uc001ewc.2_Silent_p.T295T|FAM63A_uc010pcm.1_Silent_p.T342T|FAM63A_uc001ewd.2_Silent_p.T295T|FAM63A_uc001ewe.2_Silent_p.T271T|FAM63A_uc010pcn.1_Silent_p.T485T|FAM63A_uc001ewg.2_Silent_p.T437T	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	hypothetical protein LOC55793 isoform 1	437							protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACAGGACCCGCGTCCGCATCC	0.642													T	150970118	C	T	150970118	2	4	94	1	0	0	0	0	0	0	0	1	5596	755	27	1		1	FAM63A	1	150970118	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	525641	150970118	98280503	196	59329											
FAM63A	55793	broad.mit.edu	37	chr1	150973067	150973067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtggccagtttaggcaGcactgtcattgcatcatcca	9	12	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:150973067G>A	uc001ewf.2	-	6	2285	c.601C>T	c.(601-603)CTG>TTG	p.L201L	FAM63A_uc001ewc.2_Silent_p.L59L|FAM63A_uc010pcm.1_Silent_p.L106L|FAM63A_uc001ewd.2_Silent_p.L59L|FAM63A_uc001ewe.2_Silent_p.L35L|FAM63A_uc010pcn.1_Silent_p.L249L|FAM63A_uc001ewg.2_Silent_p.L201L	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	hypothetical protein LOC55793 isoform 1	201							protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTTTAGGCAGCACTGTCATT	0.473													A	150973067	G	A	150973067	2	1	94	1	0	0	0	0	0	0	0	1	5596	962	34	2		2	FAM63A	1	150973067	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2949	150973067	98277554	197	59330											
C1orf56	54964	broad.mit.edu	37	chr1	151020505	151020505	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtcttccccggaagacaaGgataatcctagaggacgaga	12	9	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:151020505G>T	uc001ewn.2	+	1	247	c.182G>T	c.(181-183)AGG>ATG	p.R61M		NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	hypothetical protein LOC54964 precursor	61						extracellular region					0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGGAAGACAAGGATAATCCTA	0.647													T	151020505	G	T	151020505	3	4	94	1	0	0	0	0	1	0	0	0	2048	1000	35	5	184	5	C1orf56	1	151020505	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	47438	151020505	98230116	198	59331											
ZNF687	57592	broad.mit.edu	37	chr1	151259458	151259458	+	Frame_Shift_Del	DEL	C	C	-													agagctgcagcccccatcatCcccaggtcctagcccaacaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:151259457_151259457TC>T	uc001exq.3	+	1	788	c.690_690TC>T	c.(688-690)catfs	p.H230fs	ZNF687_uc001exp.1_Frame_Shift_Del_p.H239fs|ZNF687_uc009wmo.3_Frame_Shift_Del_p.H230fs|ZNF687_uc009wmp.3_Frame_Shift_Del_p.H230fs	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	230	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCCCCATCATCCCCAGGTCC	0.632													-	151259458	C	-	151259458	7	5	94	1	0	1	0	1	0	0	0	0	18089	855	30	0	693	0	ZNF687	1	151259458	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	238953	151259458	97991163	199	59332											
ZNF687	57592	broad.mit.edu	37	chr1	151261640	151261640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatccagacgtcgcactgCgaggttttccacaagtgccc	9	15	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:151261640C>T	uc001exq.2	+	4	2462	c.2364C>T	c.(2362-2364)TGC>TGT	p.C788C	ZNF687_uc009wmo.2_Silent_p.C788C|ZNF687_uc009wmp.2_Silent_p.C788C	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	788					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGTCGCACTGCGAGGTTTTCC	0.597													T	151261640	C	T	151261640	2	4	94	1	0	0	0	0	0	0	0	1	18089	776	27	1		1	ZNF687	1	151261640	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2182	151261640	97988981	200	59333											
POGZ	23126	broad.mit.edu	37	chr1	151377849	151377849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacaagcatgcctttgctgCgctggcaagctgtgtgcttc	11	12	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:151377849C>T	uc001eyd.1	-	19	3968	c.3662G>A	c.(3661-3663)CGC>CAC	p.R1221H	POGZ_uc001eye.1_Missense_Mutation_p.R1168H|POGZ_uc010pdb.1_Missense_Mutation_p.R1212H|POGZ_uc001eyf.1_Missense_Mutation_p.R1177H|POGZ_uc010pdc.1_Missense_Mutation_p.R1159H|POGZ_uc009wmv.1_Missense_Mutation_p.R1126H|POGZ_uc010pdd.1_Missense_Mutation_p.R712H	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1221	DDE.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTTTGCTGCGCTGGCAAGC	0.527													T	151377849	C	T	151377849	3	4	94	1	0	0	0	0	1	0	0	0	12186	768	27	1	574	1	POGZ	1	151377849	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	116209	151377849	97872772	201	59334											
RPTN	126638	broad.mit.edu	37	chr1	152127424	152127424	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcctgactctcatggctGtgtctatcccaagtttgatg	8	12	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152127424G>A	uc001ezs.1	-	3	2216	c.2151C>T	c.(2149-2151)CAC>CAT	p.H717H		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	717	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0						TCTCATGGCTGTGTCTATCCC	0.562													A	152127424	G	A	152127424	2	1	94	1	0	0	0	0	0	0	0	1	13664	1368	48	4		4	RPTN	1	152127424	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	749575	152127424	97123197	202	59335											
HRNR	388697	broad.mit.edu	37	chr1	152187054	152187054	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgctgagtgtaaccagaggActgccatgagctagactcgt	12	9	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152187054A>T	uc001ezt.1	-	3	7127	c.7051T>A	c.(7051-7053)TCC>ACC	p.S2351T		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2351	25.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAACCAGAGGACTGCCATGAG	0.567													T	152187054	A	T	152187054	3	4	94	1	0	0	0	0	1	0	0	0	7359	275	10	5	1505	5	HRNR	1	152187054	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	59630	152187054	97063567	203	59336											
FLG	2312	broad.mit.edu	37	chr1	152278662	152278662	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctctcagagtcttctgaAtgtccctcactgtcactgtc	6	15	5	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152278662A>G	uc001ezu.1	-	3	8736	c.8700T>C	c.(8698-8700)CAT>CAC	p.H2900H		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2900	Ser-rich.|Filaggrin 17.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCTTCTGAATGTCCCTCAC	0.567									Ichthyosis				G	152278662	A	G	152278662	2	3	94	1	0	0	0	0	0	0	0	1	5922	98	4	3		3	FLG	1	152278662	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	91608	152278662	96971959	204	59337			1	27		11	9	8224	N	T_G_C_A	8.102174e-06
FLG	2312	broad.mit.edu	37	chr1	152278749	152278749	+	Silent	SNP	T	T	C													gattgtccctggactgcctgTgagtgtctagagatgtcggc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152278749T>C	uc001ezu.1	-	3	8649	c.8613A>G	c.(8611-8613)TCA>TCG	p.S2871S		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2871	Ser-rich.|Filaggrin 17.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGACTGCCTGTGAGTGTCTAG	0.562									Ichthyosis				C	152278749	T	C	152278749	2	2	94	1	0	0	0	0	0	0	0	1	5922	1683	59	3		3	FLG	1	152278749	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	87	152278749	96971872	205	59338	262	3	1	27		11	9	8224	N	T_G_C_A	8.102174e-06
FLG	2312	broad.mit.edu	37	chr1	152278757	152278757	+	Missense_Mutation	SNP	T	T	C													ctggactgcctgtgagtgtcTagagatgtcggcatgagtgg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152278757T>C	uc001ezu.1	-	3	8641	c.8605A>G	c.(8605-8607)AGA>GGA	p.R2869G		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2869	Ser-rich.|Filaggrin 17.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGAGTGTCTAGAGATGTCG	0.557									Ichthyosis				C	152278757	T	C	152278757	3	2	94	1	0	0	0	0	1	0	0	0	5922	1530	53	3	3584	3	FLG	1	152278757	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	8	152278757	96971864	206	59339	262	3	1	27		11	9	8224	N	T_G_C_A	8.102174e-06
FLG	2312	broad.mit.edu	37	chr1	152278762	152278762	+	Missense_Mutation	SNP	A	A	C													ctgcctgtgagtgtctagagAtgtcggcatgagtggaagct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152278762A>C	uc001ezu.1	-	3	8636	c.8600T>G	c.(8599-8601)ATC>AGC	p.I2867S		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2867	Ser-rich.|Filaggrin 17.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCTAGAGATGTCGGCATG	0.562									Ichthyosis				C	152278762	A	C	152278762	3	2	94	1	0	0	0	0	1	0	0	0	5922	333	12	5	3589	5	FLG	1	152278762	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	5	152278762	96971859	207	59340	262	3	1	27		11	9	8224	N	T_G_C_A	8.102174e-06
FLG	2312	broad.mit.edu	37	chr1	152279050	152279050	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtgcctggagctgtctTgtgcctgctcatggcgggat	15	10	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152279050T>C	uc001ezu.1	-	3	8348	c.8312A>G	c.(8311-8313)CAA>CGA	p.Q2771R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2771	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCTGTCTTGTGCCTGCTC	0.592									Ichthyosis				C	152279050	T	C	152279050	3	2	94	1	0	0	0	0	1	0	0	0	5922	1812	63	3	3877	3	FLG	1	152279050	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	288	152279050	96971571	208	59341			1	27		11	9	8224	N	T_G_C_A	8.102174e-06
FLG	2312	broad.mit.edu	37	chr1	152280504	152280504	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatgaccggctctgtcttcGtgatgggacctggggtgtct	14	11	3	2	rs141571186		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152280504G>T	uc001ezu.1	-	3	6894	c.6858C>A	c.(6856-6858)CAC>CAA	p.H2286Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2286	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGTCTTCGTGATGGGACC	0.557									Ichthyosis				T	152280504	G	T	152280504	3	4	94	1	0	0	0	0	1	0	0	0	5922	1136	40	5	5331	5	FLG	1	152280504	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1454	152280504	96970117	209	59342			1	27		11	9	8224	N	T_G_C_A	8.102174e-06
FLG	2312	broad.mit.edu	37	chr1	152280635	152280635	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgtcactgtcctggctaaCactggatccccggggcctgc	11	15	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152280635C>A	uc001ezu.1	-	3	6763	c.6727G>T	c.(6727-6729)GTT>TTT	p.V2243F		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2243	Ser-rich.|Filaggrin 13.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGGCTAACACTGGATCCC	0.572									Ichthyosis				A	152280635	C	A	152280635	3	1	94	1	0	0	0	0	1	0	0	0	5922	478	17	5	5462	5	FLG	1	152280635	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	131	152280635	96969986	210	59343			1	27		11	9	8224	N	T_G_C_A	8.102174e-06
FLG	2312	broad.mit.edu	37	chr1	152280840	152280840	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggaggcatcagaccttccCtgggatgtggtgtggctgtg	17	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152280840C>A	uc001ezu.1	-	3	6558	c.6522G>T	c.(6520-6522)CAG>CAT	p.Q2174H		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2174	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGACCTTCCCTGGGATGTGG	0.557									Ichthyosis				A	152280840	C	A	152280840	3	1	94	1	0	0	0	0	1	0	0	0	5922	680	24	5	5667	5	FLG	1	152280840	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	205	152280840	96969781	211	59344			1	27		11	9	8224	N	T_G_C_A	8.102174e-06
FLG	2312	broad.mit.edu	37	chr1	152285753	152285753	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgagtgtccagacctatTtaccgattgctcgtggtggg	12	10	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152285753T>G	uc001ezu.1	-	3	1645	c.1609A>C	c.(1609-1611)AAT>CAT	p.N537H	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	537	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGACCTATTTACCGATTGC	0.582									Ichthyosis				G	152285753	T	G	152285753	3	3	94	1	0	0	0	0	1	0	0	0	5922	1841	64	5	10580	5	FLG	1	152285753	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	4913	152285753	96964868	212	59345			1	27		11	9	8224	N	T_G_C_A	8.102174e-06
FLG	2312	broad.mit.edu	37	chr1	152286029	152286029	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttggtggctctgctgtctcaGcccagcctttccgtggcctg	12	14	2	0	rs141885805	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152286029G>C	uc001ezu.1	-	3	1369	c.1333C>G	c.(1333-1335)CTG>GTG	p.L445V	uc001ezv.2_RNA	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	445	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGTCTCAGCCCAGCCTTT	0.587									Ichthyosis				C	152286029	G	C	152286029	3	2	94	1	0	0	0	0	1	0	0	0	5922	962	34	5	10856	5	FLG	1	152286029	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	276	152286029	96964592	213	59346			1	27		11	9	8224	N	T_G_C_A	8.102174e-06
FLG	2312	broad.mit.edu	37	chr1	152286885	152286885	+	Frame_Shift_Del	DEL	T	T	-													ggtgaatatccttttctttcTtttttttcagaactagattc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152286884_152286884CT>C	uc001ezu.1	-	2	514	c.478_478AG>G	c.(478-480)gaafs	p.E160fs	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	160					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTTTCTTTCTTTTTTTTCA	0.338									Ichthyosis				-	152286885	T	-	152286885	7	5	94	1	0	1	0	1	0	0	0	0	5922	1606	56	0	11712	0	FLG	1	152286885	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	856	152286885	96963736	214	59347			1	27		11	9	8224	N	T_G_C_A	8.102174e-06
CRNN	49860	broad.mit.edu	37	chr1	152382676	152382676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgggtgggtgtctgggtGtgtgtccctgcctgtatctg	17	8	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152382676G>A	uc001ezx.2	-	3	956	c.882C>T	c.(880-882)CAC>CAT	p.H294H		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	294	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCTGGGTGTGTGTCCCTG	0.607													A	152382676	G	A	152382676	2	1	94	1	0	0	0	0	0	0	0	1	3892	1368	48	4		4	CRNN	1	152382676	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	95791	152382676	96867945	215	59348											
INTS3	65123	broad.mit.edu	37	chr1	153723713	153723713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatctcactgcttcgggaaCgggtgagggaacaggacaaa	14	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:153723713C>T	uc009wom.2	+	8	948	c.727C>T	c.(727-729)CGG>TGG	p.R243W	INTS3_uc001fct.2_Missense_Mutation_p.R243W|INTS3_uc001fcu.2_Translation_Start_Site|INTS3_uc001fcv.2_Missense_Mutation_p.R37W|INTS3_uc010peb.1_Missense_Mutation_p.R37W|INTS3_uc001fcw.2_Translation_Start_Site	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	244					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTCGGGAACGGGTGAGGGA	0.517													T	153723713	C	T	153723713	3	4	94	1	0	0	0	0	1	0	0	0	7779	527	19	1	753	1	INTS3	1	153723713	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1341037	153723713	95526908	216	59349											
DENND4B	9909	broad.mit.edu	37	chr1	153907345	153907345	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgttctctcaagggctgGcggaactgagcagcccccag	13	14	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:153907345G>A	uc001fdd.1	-	18	3065	c.2664C>T	c.(2662-2664)CGC>CGT	p.R888R	uc001fdc.1_RNA	NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	888	Gln-rich.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCAAGGGCTGGCGGAACTGAG	0.453													A	153907345	G	A	153907345	2	1	94	1	0	0	0	0	0	0	0	1	4434	1190	42	2		2	DENND4B	1	153907345	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	183632	153907345	95343276	217	59350											
DENND4B	9909	broad.mit.edu	37	chr1	153911461	153911462	+	Frame_Shift_Del	DEL	TG	TG	-													caatgaactgtgagaacatcTgtgtgtgcagcagctgagag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:153911461_153911462delTG	uc001fdd.1	-	13	2280_2281	c.1879_1880delCA	c.(1879-1881)CAGfs	p.Q627fs		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	627	dDENN.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGAGAACATCTGTGTGTGCAGC	0.515													-	153911462	TG	-	153911461	7	5	94	1	0	1	0	1	0	0	0	0	4434	1580	55	0	2674	0	DENND4B	1	153911461	Frame_Shift_Del	DEL	TG	TCGA-BR-8487-01A-11D-2394-08	4116	153911461	95339160	218	59351											
DENND4B	9909	broad.mit.edu	37	chr1	153913024	153913024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggcactcagcacatctGccagcaccagcgggcacaga	12	15	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:153913024G>A	uc001fdd.1	-	10	1786	c.1385C>T	c.(1384-1386)GCA>GTA	p.A462V		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	462	DENN.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGCACATCTGCCAGCACCAG	0.557													A	153913024	G	A	153913024	3	1	94	1	0	0	0	0	1	0	0	0	4434	1319	46	2	3181	2	DENND4B	1	153913024	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1563	153913024	95337597	219	59352											
NUP210L	91181	broad.mit.edu	37	chr1	153965404	153965404	+	Frame_Shift_Del	DEL	A	A	-													gggggagaacttgtggagttAaaaaaacctagaagaagagg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:153965403_153965403TA>T	uc001fdw.3	-	39	5647	c.5575_5575TA>A	c.(5575-5577)aacfs	p.N1859fs	NUP210L_uc009woq.3_Frame_Shift_Del_p.N768fs|NUP210L_uc010peh.2_Frame_Shift_Del_p.N1707fs	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1859				FNSTSSPPHFMSLQP -> LTPQVLPLTS (in Ref. 1; BAC86345).		integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTTGTGGAGTTAAAAAAACCT	0.438													-	153965404	A	-	153965404	7	5	94	1	0	1	0	1	0	0	0	0	10761	359	13	0	96	0	NUP210L	1	153965404	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	52380	153965404	95285217	220	59353											
AQP10	89872	broad.mit.edu	37	chr1	154296793	154296793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgggtgcctgtggtggCccctctggtgggggccaccg	20	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:154296793C>T	uc001feu.2	+	6	783	c.743C>T	c.(742-744)GCC>GTC	p.A248V	AQP10_uc001fev.2_3'UTR|ATP8B2_uc001few.2_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	aquaporin 10	248	Extracellular (Potential).				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)	1	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTGTGGTGGCCCCTCTGGTG	0.612											OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	154296793	C	T	154296793	3	4	94	1	0	0	0	0	1	0	0	0	822	739	26	2	765	2	AQP10	1	154296793	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	331389	154296793	94953828	221	59354											
PYGO2	90780	broad.mit.edu	37	chr1	154932028	154932028	+	Frame_Shift_Del	DEL	G	G	-													gggtgggtagccaggaccctGggggggcatgttgaaagcag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:154932027_154932027TG>T	uc001fft.3	-	2	655	c.449_449CA>A	c.(448-450)cagfs	p.Q150fs		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA.	150	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding	p.Q150fs*27(4)		endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCAGGACCCTGGGGGGGCAT	0.622													-	154932028	G	-	154932028	7	5	94	1	0	1	0	1	0	0	0	0	12864	1357	47	0	776	0	PYGO2	1	154932028	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	635235	154932028	94318593	222	59355											
SHC1	6464	broad.mit.edu	37	chr1	154938468	154938468	+	Frame_Shift_Del	DEL	G	G	-													ctgccattgatagcaggattGgggggcccagcaccacccac							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:154938467_154938467TG>T	uc001ffv.3	-	9	1560	c.1339_1339CA>A	c.(1339-1341)aatfs	p.N447fs	SHC1_uc001ffw.3_Frame_Shift_Del_p.N448fs|SHC1_uc001ffx.3_Frame_Shift_Del_p.N338fs|SHC1_uc001ffy.3_Frame_Shift_Del_p.N337fs|SHC1_uc001ffz.1_Frame_Shift_Del_p.N218fs	NM_183001	NP_001189788	P29353	SHC1_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 1 (SHC1), transcript variant 1, mRNA.	447	CH1.|Pro-rich.				Ras protein signal transduction|activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|regulation of epidermal growth factor receptor activity|regulation of growth	Shc-EGFR complex|cytosol|mitochondrial matrix	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ATAGCAGGATTGGGGGGCCCA	0.567													-	154938468	G	-	154938468	7	5	94	1	0	1	0	1	0	0	0	0	14270	1335	47	0	425	0	SHC1	1	154938468	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	6440	154938468	94312153	223	59356											
SHC1	6464	broad.mit.edu	37	chr1	154942648	154942648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccacccgagtcctgcgccCgccgcctccactcagcttgt	8	20	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:154942648C>T	uc001ffv.2	-	1	576	c.355G>A	c.(355-357)GGG>AGG	p.G119R	SHC1_uc001ffz.1_5'Flank|SHC1_uc001ffw.2_Missense_Mutation_p.G119R|SHC1_uc001ffx.2_Missense_Mutation_p.G9R|SHC1_uc001ffy.2_Missense_Mutation_p.G9R	NM_183001	NP_892113	P29353	SHC1_HUMAN	SHC-transforming protein 1 isoform 1	119					activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(1)|skin(1)	2	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTCCTGCGCCCGCCGCCTCCA	0.667													T	154942648	C	T	154942648	3	4	94	1	0	0	0	0	1	0	0	0	14270	652	23	1	1447	1	SHC1	1	154942648	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4180	154942648	94307973	224	59357											
FLAD1	80308	broad.mit.edu	37	chr1	154960618	154960618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaccttctttctgtgccGgacactgcgctccctagggg	10	15	2	0	rs61741145	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:154960618G>A	uc001fgf.1	+	2	764	c.410G>A	c.(409-411)CGG>CAG	p.R137Q	FLAD1_uc001fgc.2_Missense_Mutation_p.R38Q|FLAD1_uc001fgd.1_Missense_Mutation_p.R137Q|FLAD1_uc001fge.1_Missense_Mutation_p.R40Q|FLAD1_uc001fgg.1_Missense_Mutation_p.R40Q|FLAD1_uc001fgh.1_5'UTR	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase isoform	137	Molybdenum cofactor biosynthesis protein- like.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			ovary(2)|skin(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)			TTTCTGTGCCGGACACTGCGC	0.557													A	154960618	G	A	154960618	3	1	94	1	0	0	0	0	1	0	0	0	5920	1116	39	1	491	1	FLAD1	1	154960618	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	17970	154960618	94290003	225	59358											
DCST2	127579	broad.mit.edu	37	chr1	155006032	155006032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaccccaggggctgtggCcttccaccagtagctccaga	12	15	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:155006032C>T	uc001fgm.2	-	1	226	c.146G>A	c.(145-147)GGC>GAC	p.G49D	DCST2_uc009wpb.2_RNA|DCST1_uc010per.1_5'Flank|DCST1_uc001fgn.1_5'Flank|DCST1_uc010pes.1_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	49	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)			GGGGCTGTGGCCTTCCACCAG	0.627													T	155006032	C	T	155006032	3	4	94	1	0	0	0	0	1	0	0	0	4303	739	26	2	2235	2	DCST2	1	155006032	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	45414	155006032	94244589	226	59359											
TRIM46	80128	broad.mit.edu	37	chr1	155150709	155150709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagccttgctttgtgcaaGccgccaagcagctgcacaac	9	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:155150709G>A	uc001fhs.1	+	6	1224	c.1141G>A	c.(1141-1143)GCC>ACC	p.A381T	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.A381T|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.A255T|TRIM46_uc001fhu.1_Missense_Mutation_p.A358T|TRIM46_uc009wpg.1_Missense_Mutation_p.A368T|TRIM46_uc001fhv.3_Missense_Mutation_p.A368T|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	381	Potential.|COS.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTTTGTGCAAGCCGCCAAGCA	0.572													A	155150709	G	A	155150709	3	1	94	1	0	0	0	0	1	0	0	0	16518	971	34	2	1163	2	TRIM46	1	155150709	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	144677	155150709	94099912	227	59360											
GBA	2629	broad.mit.edu	37	chr1	155209421	155209421	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccttcttcagagaagTacgatttaagtagcaaattt	6	9	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:155209421T>C	uc001fjh.2	-	4	590	c.440A>G	c.(439-441)TAC>TGC	p.Y147C	RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Intron|GBA_uc010pfx.1_Intron|GBA_uc001fji.2_Missense_Mutation_p.Y147C|GBA_uc001fjj.2_Missense_Mutation_p.Y147C|GBA_uc001fjk.2_Missense_Mutation_p.Y147C|GBA_uc001fjl.2_Missense_Mutation_p.Y147C|GBA_uc010pfy.1_Missense_Mutation_p.Y60C|GBA_uc009wqk.1_Missense_Mutation_p.Y60C	NM_000157	NP_000148	P04062	GLCM_HUMAN	glucocerebrosidase precursor	147					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			ovary(1)|skin(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	TTCAGAGAAGTACGATTTAAG	0.378									Gaucher_disease_type_I				C	155209421	T	C	155209421	3	2	94	1	0	0	0	0	1	0	0	0	6266	1638	57	3	1202	3	GBA	1	155209421	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	58712	155209421	94041200	228	59361											
FAM189B	10712	broad.mit.edu	37	chr1	155221590	155221590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcggtgggggcacaggcGggacaaattcctccaggtcc	17	11	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:155221590G>A	uc001fjm.2	-	6	1334	c.728C>T	c.(727-729)CCG>CTG	p.P243L	RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_Missense_Mutation_p.P9L|FAM189B_uc001fjn.2_Missense_Mutation_p.P147L|FAM189B_uc001fjo.2_Missense_Mutation_p.P225L|FAM189B_uc001fjp.2_Intron	NM_006589	NP_006580	P81408	F189B_HUMAN	hypothetical protein LOC10712 isoform a	243	Poly-Pro.					integral to membrane	WW domain binding			ovary(1)|breast(1)	2						GGGCACAGGCGGGACAAATTC	0.632													A	155221590	G	A	155221590	3	1	94	1	0	0	0	0	1	0	0	0	5517	1116	39	1	1306	1	FAM189B	1	155221590	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	12169	155221590	94029031	229	59362											
CLK2	1196	broad.mit.edu	37	chr1	155233764	155233764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcggtttgcagttctcacGaacatagcgcccagctgatg	11	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:155233764G>A	uc001fjy.2	-	12	1584	c.1294C>T	c.(1294-1296)CGT>TGT	p.R432C	RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Missense_Mutation_p.R431C|CLK2_uc001fjx.2_Missense_Mutation_p.R204C|CLK2_uc009wqm.2_Missense_Mutation_p.R432C	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	432	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGTTCTCACGAACATAGCGC	0.537								Other_conserved_DNA_damage_response_genes					A	155233764	G	A	155233764	3	1	94	1	0	0	0	0	1	0	0	0	3537	1058	37	1	213	1	CLK2	1	155233764	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	12174	155233764	94016857	230	59363											
CLK2	1196	broad.mit.edu	37	chr1	155234456	155234456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaggatgacttctggtgctCggtaatggcgagtggagaca	15	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:155234456C>T	uc001fjy.2	-	9	1333	c.1043G>A	c.(1042-1044)CGA>CAA	p.R348Q	RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Missense_Mutation_p.R347Q|CLK2_uc001fjx.2_Missense_Mutation_p.R120Q|CLK2_uc009wqm.2_Missense_Mutation_p.R348Q	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	348	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTCTGGTGCTCGGTAATGGCG	0.552								Other_conserved_DNA_damage_response_genes					T	155234456	C	T	155234456	3	4	94	1	0	0	0	0	1	0	0	0	3537	884	31	1	476	1	CLK2	1	155234456	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	692	155234456	94016165	231	59364											
RUSC1	23623	broad.mit.edu	37	chr1	155294946	155294946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatcatctcgcatttcgggGccgcccggaacttggtgcag	12	12	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:155294946G>A	uc001fkj.2	+	4	1739	c.1510G>A	c.(1510-1512)GCC>ACC	p.A504T	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fki.2_5'Flank|RUSC1_uc001fkk.2_Missense_Mutation_p.A504T|RUSC1_uc009wqn.1_Intron|RUSC1_uc009wqo.1_Missense_Mutation_p.A35T|RUSC1_uc001fkl.2_Missense_Mutation_p.A94T|RUSC1_uc001fkp.2_Missense_Mutation_p.A35T|RUSC1_uc001fkq.2_Missense_Mutation_p.A35T|RUSC1_uc010pgb.1_Missense_Mutation_p.A35T|RUSC1_uc009wqp.1_5'UTR|RUSC1_uc001fkn.2_5'UTR|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Missense_Mutation_p.A35T|RUSC1_uc001fks.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	504						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GCATTTCGGGGCCGCCCGGAA	0.622											OREG0013860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	155294946	G	A	155294946	3	1	94	1	0	0	0	0	1	0	0	0	13750	1203	42	2	1651	2	RUSC1	1	155294946	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	60490	155294946	93955675	232	59365											
ASH1L	55870	broad.mit.edu	37	chr1	155448745	155448745	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggataaaatgatgacttcGatgagtgatccgaatttcac	11	6	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:155448745G>A	uc009wqq.2	-	3	4396	c.3916C>T	c.(3916-3918)CGA>TGA	p.R1306*	ASH1L_uc001fkt.2_Nonsense_Mutation_p.R1306*|ASH1L_uc009wqr.1_Nonsense_Mutation_p.R1306*	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1306					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGATGACTTCGATGAGTGATC	0.403													A	155448745	G	A	155448745	4	1	94	1	0	0	0	0	0	1	0	0	1041	1066	37	1	5082	1	ASH1L	1	155448745	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	153799	155448745	93801876	233	59366											
ASH1L	55870	broad.mit.edu	37	chr1	155491157	155491157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtttctttctcgattccGtttgcgaaggtcctcttcct	8	11	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:155491157G>A	uc009wqq.2	-	2	634	c.154C>T	c.(154-156)CGG>TGG	p.R52W	ASH1L_uc001fkt.2_Missense_Mutation_p.R52W|ASH1L_uc009wqr.1_Missense_Mutation_p.R52W	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	52					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCTCGATTCCGTTTGCGAAGG	0.413													A	155491157	G	A	155491157	3	1	94	1	0	0	0	0	1	0	0	0	1041	1144	40	1	8848	1	ASH1L	1	155491157	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	42412	155491157	93759464	234	59367											
RXFP4	339403	broad.mit.edu	37	chr1	155911941	155911941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtggtggccatggctgcGgggccaggcacccacctctc	16	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:155911941G>A	uc010pgs.1	+	1	462	c.441G>A	c.(439-441)GCG>GCA	p.A147A		NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN	relaxin 3 receptor 2	147	Cytoplasmic (Potential).					integral to membrane|plasma membrane	angiotensin type II receptor activity				0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCATGGCTGCGGGGCCAGGCA	0.647													A	155911941	G	A	155911941	2	1	94	1	0	0	0	0	0	0	0	1	13762	1103	39	1		1	RXFP4	1	155911941	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	420784	155911941	93338680	235	59368											
UBQLN4	56893	broad.mit.edu	37	chr1	156018332	156018332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgggctcctggatgtccGtgtacatgcggcggagggca	16	10	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:156018332G>A	uc001fna.2	-	5	884	c.860C>T	c.(859-861)ACG>ATG	p.T287M	UBQLN4_uc010pgx.1_Missense_Mutation_p.T267M	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	ataxin-1 ubiquitin-like interacting protein	287						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			pancreas(1)|skin(1)	2	Hepatocellular(266;0.133)|all_neural(408;0.195)					CTGGATGTCCGTGTACATGCG	0.602													A	156018332	G	A	156018332	3	1	94	1	0	0	0	0	1	0	0	0	16896	1145	40	1	973	1	UBQLN4	1	156018332	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	106391	156018332	93232289	236	59369											
RAB25	57111	broad.mit.edu	37	chr1	156035832	156035832	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcactgtgatgttgggcacCgctgctgtcaaggctcagat	13	11	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:156035832C>T	uc001fnc.2	+	2	400	c.174C>T	c.(172-174)ACC>ACT	p.T58T		NM_020387	NP_065120	P57735	RAB25_HUMAN	RAB25	58					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					TGTTGGGCACCGCTGCTGTCA	0.642													T	156035832	C	T	156035832	2	4	94	1	0	0	0	0	0	0	0	1	12912	639	23	1		1	RAB25	1	156035832	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	17500	156035832	93214789	237	59370											
SEMA4A	64218	broad.mit.edu	37	chr1	156124510	156124510	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggtcagatactatgcaggTaagtgtccgacagcaggaag	14	7	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:156124510T>C	uc001fnl.2	+	2	243	c.139_splice	c.e2+2	p.G47_splice	SEMA4A_uc009wrq.2_Splice_Site_p.G47_splice|SEMA4A_uc001fnm.2_Splice_Site_p.G47_splice|SEMA4A_uc001fnn.2_Intron|SEMA4A_uc001fno.2_Splice_Site_p.G47_splice	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor						axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					ACTATGCAGGTAAGTGTCCGA	0.597													C	156124510	T	C	156124510	5	2	94	1	0	0	0	0	0	0	1	0	14031	1652	57	3	143	3	SEMA4A	1	156124510	Splice_Site	SNP	T	TCGA-BR-8487-01A-11D-2394-08	88678	156124510	93126111	238	59371											
SEMA4A	64218	broad.mit.edu	37	chr1	156130338	156130338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagaccgacaacttcctcCgctggctgcatcgtaaggac	9	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:156130338C>T	uc001fnl.2	+	7	777	c.673C>T	c.(673-675)CGC>TGC	p.R225C	SEMA4A_uc009wrq.2_Missense_Mutation_p.R225C|SEMA4A_uc001fnm.2_Missense_Mutation_p.R225C|SEMA4A_uc001fnn.2_Missense_Mutation_p.R93C|SEMA4A_uc001fno.2_Missense_Mutation_p.R225C	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	225	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					CAACTTCCTCCGCTGGCTGCA	0.473													T	156130338	C	T	156130338	3	4	94	1	0	0	0	0	1	0	0	0	14031	652	23	1	695	1	SEMA4A	1	156130338	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	5828	156130338	93120283	239	59372											
PAQR6	79957	broad.mit.edu	37	chr1	156216522	156216522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcagcttgagactgagcaTggtggcctggtacctccacg	15	11	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:156216522T>C	uc001fnu.1	-	2	71	c.1A>G	c.(1-3)ATG>GTG	p.M1V	PAQR6_uc010phf.1_Intron|PAQR6_uc001fny.1_Intron|PAQR6_uc001fnv.1_Intron|PAQR6_uc010phg.1_Missense_Mutation_p.M1V|PAQR6_uc001fnx.1_5'UTR|PAQR6_uc001fnw.1_5'UTR|PAQR6_uc001fnz.1_5'UTR|PAQR6_uc010phh.1_Missense_Mutation_p.M1V|PAQR6_uc001foa.1_5'UTR|PAQR6_uc001fob.1_RNA	NM_198406	NP_940798	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	1	Cytoplasmic (Potential).					integral to membrane	receptor activity				0	Hepatocellular(266;0.158)					AGACTGAGCATGGTGGCCTGG	0.612													C	156216522	T	C	156216522	3	2	94	1	0	0	0	0	1	0	0	0	11439	1464	51	3	1400	3	PAQR6	1	156216522	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	86184	156216522	93034099	240	59373											
MEF2D	4209	broad.mit.edu	37	chr1	156438036	156438036	+	Frame_Shift_Del	DEL	G	G	-													ttctgacttgatgctgatgtGggggtgggtggtgactgtga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:156438035_156438035TG>T	uc001fpc.3	-	10	1694	c.1304_1304CA>A	c.(1303-1305)cacfs	p.H435fs	MEF2D_uc001fpb.3_Frame_Shift_Del_p.H428fs|MEF2D_uc001fpd.3_Frame_Shift_Del_p.H428fs|MEF2D_uc009wsa.3_Non-coding_Transcript|MEF2D_uc001fpe.1_Frame_Shift_Del_p.H435fs	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	Homo sapiens myocyte enhancer factor 2D (MEF2D), mRNA.	435					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GATGCTGATGTGGGGGTGGGT	0.652													-	156438036	G	-	156438036	7	5	94	1	0	1	0	1	0	0	0	0	9458	1348	47	0	270	0	MEF2D	1	156438036	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	221514	156438036	92812585	241	59374											
GPATCH4	54865	broad.mit.edu	37	chr1	156568272	156568272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgataccattctccttccGgccgaggcctttgcctgcag	10	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:156568272G>A	uc001fpm.2	-	3	148	c.109C>T	c.(109-111)CGG>TGG	p.R37W	GPATCH4_uc001fpl.2_Missense_Mutation_p.R32W	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4 isoform 1	32	G-patch.					intracellular	nucleic acid binding			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCTCCTTCCGGCCGAGGCCT	0.562													A	156568272	G	A	156568272	3	1	94	1	0	0	0	0	1	0	0	0	6593	1115	39	1	1042	1	GPATCH4	1	156568272	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	130236	156568272	92682349	242	59375											
PRCC	5546	broad.mit.edu	37	chr1	156737935	156737935	+	Silent	SNP	T	T	C													cctggcctcaatctgcccccTccaattggcggtgccggtcc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:156737935T>C	uc001fqa.2	+	1	662	c.372T>C	c.(370-372)CCT>CCC	p.P124P	PRCC_uc001fqb.2_Silent_p.P124P|HDGF_uc009wsf.2_5'Flank	NM_005973	NP_005964	Q92733	PRCC_HUMAN	papillary renal cell carcinoma	124					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	kidney(25)|central_nervous_system(2)	27	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATCTGCCCCCTCCAATTGGCG	0.672			T	TFE3	papillary renal 								C	156737935	T	C	156737935	2	2	94	1	0	0	0	0	0	0	0	1	12447	1538	54	3		3	PRCC	1	156737935	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	169663	156737935	92512686	243	59376	263	2									
PRCC	5546	broad.mit.edu	37	chr1	156737938	156737938	+	Silent	SNP	A	A	C													ggcctcaatctgccccctccAattggcggtgccggtccccc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:156737938A>C	uc001fqa.2	+	1	665	c.375A>C	c.(373-375)CCA>CCC	p.P125P	PRCC_uc001fqb.2_Silent_p.P125P|HDGF_uc009wsf.2_5'Flank	NM_005973	NP_005964	Q92733	PRCC_HUMAN	papillary renal cell carcinoma	125					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	kidney(25)|central_nervous_system(2)	27	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGCCCCCTCCAATTGGCGGTG	0.662			T	TFE3	papillary renal 								C	156737938	A	C	156737938	2	2	94	1	0	0	0	0	0	0	0	1	12447	117	5	5		5	PRCC	1	156737938	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	3	156737938	92512683	244	59377	263	2									
INSRR	3645	broad.mit.edu	37	chr1	156811288	156811288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagggttgttctgccaggGtcacaatctcccagagtacc	12	11	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:156811288G>A	uc010pht.1	-	21	3814	c.3560C>T	c.(3559-3561)ACC>ATC	p.T1187I	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	1187	Cytoplasmic (Potential).|Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTCTGCCAGGGTCACAATCTC	0.612													A	156811288	G	A	156811288	3	1	94	1	0	0	0	0	1	0	0	0	7774	1261	44	4	340	4	INSRR	1	156811288	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	73350	156811288	92439333	245	59378											
ARHGEF11	9826	broad.mit.edu	37	chr1	156926350	156926350	+	Frame_Shift_Del	DEL	G	G	-													gtattgagggcgaagtccatGggggcgctgtaaaagaggaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:156926350delG	uc001fqo.2	-	18	2453	c.1413delC	c.(1411-1413)CCCfs	p.P471fs	ARHGEF11_uc001fqn.2_Frame_Shift_Del_p.P511fs|ARHGEF11_uc001fqp.1_5'UTR	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	471	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGAAGTCCATGGGGGCGCTGT	0.537													-	156926350	G	-	156926350	7	5	94	1	0	1	0	1	0	0	0	0	896	1335	47	0	3247	0	ARHGEF11	1	156926350	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	115062	156926350	92324271	246	59379											
ETV3L	440695	broad.mit.edu	37	chr1	157068643	157068643	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttgaacttgtatgtgaacCttttgcctttggtcttatgc	9	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:157068643C>A	uc001fqq.1	-	3	626	c.341G>T	c.(340-342)AGG>ATG	p.R114M		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	114	ETS.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GTATGTGAACCTTTTGCCTTT	0.493													A	157068643	C	A	157068643	3	1	94	1	0	0	0	0	1	0	0	0	5280	681	24	5	756	5	ETV3L	1	157068643	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	142293	157068643	92181978	247	59380											
FCRL2	79368	broad.mit.edu	37	chr1	157738437	157738437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatcagtttttgtccttcaGtcacctgtcccccgggggcc	11	14	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:157738437G>A	uc001fre.2	-	5	709	c.650C>T	c.(649-651)ACT>ATT	p.T217I	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.T217I|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	217	Ig-like C2-type 3.|Extracellular (Potential).				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTGTCCTTCAGTCACCTGTCC	0.512													A	157738437	G	A	157738437	3	1	94	1	0	0	0	0	1	0	0	0	5795	1029	36	4	908	4	FCRL2	1	157738437	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	669794	157738437	91512184	248	59381											
OR10K1	391109	broad.mit.edu	37	chr1	158435493	158435493	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgcaatcatcatttccAccattgtgctggacagagcc	7	13	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:158435493A>G	uc010pij.1	+	1	142	c.142A>G	c.(142-144)ACC>GCC	p.T48A		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K,	48	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					CATCATTTCCACCATTGTGCT	0.493													G	158435493	A	G	158435493	3	3	94	1	0	0	0	0	1	0	0	0	10913	159	6	3	144	3	OR10K1	1	158435493	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	697056	158435493	90815128	249	59382											
OR10Z1	128368	broad.mit.edu	37	chr1	158576274	158576274	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagggattttgtcttcctgGgcttctccagttctggggag	15	8	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:158576274G>T	uc010pio.1	+	1	46	c.46G>T	c.(46-48)GGC>TGC	p.G16C		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	16	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					TGTCTTCCTGGGCTTCTCCAG	0.468													T	158576274	G	T	158576274	3	4	94	1	0	0	0	0	1	0	0	0	10923	1232	43	5	48	5	OR10Z1	1	158576274	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	140781	158576274	90674347	250	59383											
OR6K6	128371	broad.mit.edu	37	chr1	158724749	158724749	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctctatgttcccgcatgcGcacagaggtggcctcttatt	9	12	2	1	rs147601748		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:158724749G>A	uc001fsw.1	+	1	144	c.144G>A	c.(142-144)GCG>GCA	p.A48A		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	48	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					TCCCGCATGCGCACAGAGGTG	0.458													A	158724749	G	A	158724749	2	1	94	1	0	0	0	0	0	0	0	1	11204	1074	38	1		1	OR6K6	1	158724749	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	148475	158724749	90525872	251	59384											
MNDA	4332	broad.mit.edu	37	chr1	158813179	158813179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacaaactgacatcggaaGcaagagggaggattcctgta	12	7	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:158813179G>A	uc001fsz.1	+	3	576	c.376G>A	c.(376-378)GCA>ACA	p.A126T		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	126					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					GACATCGGAAGCAAGAGGGAG	0.463													A	158813179	G	A	158813179	3	1	94	1	0	0	0	0	1	0	0	0	9676	971	34	2	382	2	MNDA	1	158813179	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	88430	158813179	90437442	252	59385											
MNDA	4332	broad.mit.edu	37	chr1	158813814	158813814	+	Frame_Shift_Del	DEL	C	C	-													tgtcccaagagcagagtaagCccccaggtccctcaggagcc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:158813814delC	uc001fsz.1	+	4	672	c.472delC	c.(472-474)CCCfs	p.P158fs		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	158					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					GCAGAGTAAGCCCCCAGGTCC	0.463													-	158813814	C	-	158813814	7	5	94	1	0	1	0	1	0	0	0	0	9676	739	26	0	482	0	MNDA	1	158813814	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	635	158813814	90436807	253	59386											
CRP	1401	broad.mit.edu	37	chr1	159683773	159683773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtcttgtctcttggtggCatacgagaaaatactgtacc	9	8	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:159683773C>T	uc001ftw.2	-	2	321	c.217G>A	c.(217-219)GCC>ACC	p.A73T	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_5'Flank	NM_000567	NP_000558	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related precursor	73	Pentaxin.			YSIFSYATKRQDNEIL -> TVFSRMPPRDKTMRFF (in Ref. 4; CAA39671).	acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CTCTTGGTGGCATACGAGAAA	0.453													T	159683773	C	T	159683773	3	4	94	1	0	0	0	0	1	0	0	0	3895	710	25	2	461	2	CRP	1	159683773	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	869959	159683773	89566848	254	59387											
KCNJ10	3766	broad.mit.edu	37	chr1	160012018	160012018	+	Frame_Shift_Del	DEL	G	G	-													cacagggggtgtggttggccGgggggtccagctccagcagg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:160012017_160012017CG>C	uc001fuw.2	-	1	546	c.306_306CG>G	c.(304-306)ccgfs	p.P102fs		NM_002241	NP_002232	P78508	IRK10_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA.	102						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTGGTTGGCCGGGGGGTCCA	0.582													-	160012018	G	-	160012018	7	5	94	1	0	1	0	1	0	0	0	0	8044	1116	39	0	838	0	KCNJ10	1	160012018	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	328245	160012018	89238603	255	59388											
KCNJ9	3765	broad.mit.edu	37	chr1	160057324	160057324	+	Frame_Shift_Del	DEL	G	G	-													cctggtagacgaggtgctgtGgggccaccgcttcacgtcag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:160057324delG	uc001fuy.1	+	3	1141	c.899delG	c.(898-900)TGGfs	p.W300fs		NM_004983	NP_004974	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel subfamily	300	Cytoplasmic (By similarity).				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			ovary(1)|skin(1)	2	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGGTGCTGTGGGGCCACCGC	0.602													-	160057324	G	-	160057324	7	5	94	1	0	1	0	1	0	0	0	0	8057	1357	47	0	905	0	KCNJ9	1	160057324	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	45306	160057324	89193297	256	59389											
ATP1A4	480	broad.mit.edu	37	chr1	160151795	160151795	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctacactccaggcatggaCgtggccctgcgaatgtaccc	10	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:160151795C>T	uc001fve.3	+	20	3422	c.2943C>T	c.(2941-2943)GAC>GAT	p.D981D	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Silent_p.D484D|ATP1A4_uc001fvh.2_Silent_p.D117D	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	981	Extracellular (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGGCATGGACGTGGCCCTGC	0.517													T	160151795	C	T	160151795	2	4	94	1	0	0	0	0	0	0	0	1	1131	535	19	1		1	ATP1A4	1	160151795	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	94471	160151795	89098826	257	59390											
USF1	7391	broad.mit.edu	37	chr1	161011147	161011147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtcctaggggcaattgagCgctggcttcctccctgcagt	13	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:161011147C>T	uc001fxi.2	-	7	722	c.527G>A	c.(526-528)CGC>CAC	p.R176H	F11R_uc010pjw.1_5'Flank|F11R_uc001fxf.3_5'Flank|TSTD1_uc010pjx.1_5'Flank|TSTD1_uc009wtw.2_5'Flank|TSTD1_uc001fxh.3_5'Flank|USF1_uc001fxj.2_Missense_Mutation_p.R117H	NM_007122	NP_009053	P22415	USF1_HUMAN	upstream stimulatory factor 1 isoform 1	176					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGCAATTGAGCGCTGGCTTCC	0.433													T	161011147	C	T	161011147	3	4	94	1	0	0	0	0	1	0	0	0	17029	768	27	1	425	1	USF1	1	161011147	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	859352	161011147	88239474	258	59391											
ARHGAP30	257106	broad.mit.edu	37	chr1	161017527	161017527	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagtccttcacctttcccaGggttagcctgtgtttcaaat	7	12	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:161017527G>T	uc001fxl.2	-	12	3630	c.3284C>A	c.(3283-3285)CCT>CAT	p.P1095H	USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Missense_Mutation_p.P884H|ARHGAP30_uc001fxm.2_Missense_Mutation_p.P941H|ARHGAP30_uc009wtx.2_Missense_Mutation_p.P768H	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	1095					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACCTTTCCCAGGGTTAGCCTG	0.557													T	161017527	G	T	161017527	3	4	94	1	0	0	0	0	1	0	0	0	879	1000	35	5	25	5	ARHGAP30	1	161017527	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	6380	161017527	88233094	259	59392											
PVRL4	81607	broad.mit.edu	37	chr1	161043525	161043525	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacctggctcctggggtcCgtgtgatgggaatgcagcct	14	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:161043525C>T	uc001fxo.2	-	7	1517	c.1218G>A	c.(1216-1218)ACG>ACA	p.T406T	PVRL4_uc010pjy.1_Silent_p.T85T|PVRL4_uc010pjz.1_Silent_p.T140T	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	406	Cytoplasmic (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TCCTGGGGTCCGTGTGATGGG	0.617													T	161043525	C	T	161043525	2	4	94	1	0	0	0	0	0	0	0	1	12842	639	23	1		1	PVRL4	1	161043525	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	25998	161043525	88207096	260	59393											
USP21	27005	broad.mit.edu	37	chr1	161134660	161134660	+	Frame_Shift_Del	DEL	A	A	-													ctgcctcccgaggctccatcAaaaaaagttcagtaggtgta							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:161134659_161134659CA>C	uc010pkc.2	+	11	1796	c.1419_1419CA>C	c.(1417-1419)atcfs	p.I473fs	USP21_uc010pkd.2_Frame_Shift_Del_p.I473fs|USP21_uc021pbv.1_Non-coding_Transcript|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc001fyi.2_5'Flank|PPOX_uc010pkh.1_5'Flank	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	473					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GAGGCTCCATCAAAAAAAGTT	0.517													-	161134660	A	-	161134660	7	5	94	1	0	1	0	1	0	0	0	0	17050	131	5	0	1458	0	USP21	1	161134660	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	91135	161134660	88115961	261	59394											
C1orf192	257177	broad.mit.edu	37	chr1	161335437	161335438	+	Frame_Shift_Ins	INS	-	-	G													ggtcagggtcacccgagcagINSggggtatcttcagaggcatt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:161335436_161335437A>AG	uc001gal.3	-	3	233_234	c.227_228T>CT	c.(226-228)cctfs	p.P76fs		NM_001013625	NP_001013647	Q5VTH2	CA192_HUMAN	Homo sapiens chromosome 1 open reading frame 192 (C1orf192), mRNA.	76										endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCACCCGAGCAGGGGGTATCTT	0.52													G	161335438	-	G	161335437	7	5	94	1	0	1	1	0	0	0	0	0	2024	1000	35	0	314	0	C1orf192	1	161335437	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	200777	161335437	87915184	262	59395											
HSPA6	3310	broad.mit.edu	37	chr1	161495465	161495465	+	Frame_Shift_Del	DEL	G	G	-													attcatgacgtcgtcctggtGgggggctccacacgcatccc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:161495465delG	uc001gap.2	+	2	1677	c.1017delG	c.(1015-1017)GTGfs	p.V339fs	HSPA6_uc001gaq.2_Frame_Shift_Del_p.V339fs	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	339					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCGTCCTGGTGGGGGGCTCCA	0.602													-	161495465	G	-	161495465	7	5	94	1	0	1	0	1	0	0	0	0	7415	1335	47	0	1019	0	HSPA6	1	161495465	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	160028	161495465	87755156	263	59396											
DUSP12	11266	broad.mit.edu	37	chr1	161722969	161722969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttccatgcttaccacagGgaggcaagctcaatgtacat	8	11	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:161722969G>A	uc001gbo.2	+	5	790	c.779G>A	c.(778-780)GGG>GAG	p.G260E	DUSP12_uc001gbp.2_Missense_Mutation_p.G130E	NM_007240	NP_009171	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	260					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)	1	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CTTACCACAGGGAGGCAAGCT	0.428													A	161722969	G	A	161722969	3	1	94	1	0	0	0	0	1	0	0	0	4812	1232	43	4	797	4	DUSP12	1	161722969	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	227504	161722969	87527652	264	59397											
C1orf110	339512	broad.mit.edu	37	chr1	162824857	162824857	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcatcagcacatgccaTtccactatcactagctgggc	8	14	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:162824857T>A	uc001gck.2	-	4	782	c.607A>T	c.(607-609)ATG>TTG	p.M203L	C1orf110_uc009wuw.1_Intron|C1orf110_uc009wux.1_Missense_Mutation_p.M202L	NM_178550	NP_848645	Q86UF4	CA110_HUMAN	hypothetical protein LOC339512	203											0						GCACATGCCATTCCACTATCA	0.473													A	162824857	T	A	162824857	3	1	94	1	0	0	0	0	1	0	0	0	1983	1493	52	5	305	5	C1orf110	1	162824857	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1101888	162824857	86425764	265	59398											
LRRC52	440699	broad.mit.edu	37	chr1	165513717	165513717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccggaggctgttcctgaacGagaacagaatcactagtttg	11	10	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:165513717G>A	uc001gde.2	+	1	240	c.184G>A	c.(184-186)GAG>AAG	p.E62K	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	62	LRR 1.|Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GTTCCTGAACGAGAACAGAAT	0.473													A	165513717	G	A	165513717	3	1	94	1	0	0	0	0	1	0	0	0	9010	1059	37	1	186	1	LRRC52	1	165513717	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2688860	165513717	83736904	266	59399											
MGST3	4259	broad.mit.edu	37	chr1	165621240	165621241	+	Frame_Shift_Ins	INS	-	-	T													agtgtatcctcccttcttatINStttttctagctgttggaggt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:165621239_165621240A>AT	uc001gdf.3	+	3	644_645	c.216_217A>AT	c.(214-219)ttatttfs	p.L72fs		NM_004528	NP_004519	O14880	MGST3_HUMAN	Homo sapiens microsomal glutathione S-transferase 3 (MGST3), mRNA.	72					leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glutathione peroxidase activity|glutathione transferase activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	CTCCCTTCTTATTTTTTCTAGC	0.366													T	165621241	-	T	165621240	7	5	94	1	0	1	1	0	0	0	0	0	9562	1493	52	0	227	0	MGST3	1	165621240	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	107523	165621240	83629381	267	59400											
FAM78B	149297	broad.mit.edu	37	chr1	166039535	166039535	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgggcctccacatgaggacCtgggcatcattggcattggg	14	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:166039535C>A	uc001gdr.2	-	3	1319	c.729G>T	c.(727-729)CAG>CAT	p.Q243H	FAM78B_uc010plc.1_RNA|FAM78B_uc001gdq.2_RNA	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	hypothetical protein LOC149297	243										central_nervous_system(1)|skin(1)	2	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					ACATGAGGACCTGGGCATCAT	0.602													A	166039535	C	A	166039535	3	1	94	1	0	0	0	0	1	0	0	0	5627	680	24	5	60	5	FAM78B	1	166039535	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	418295	166039535	83211086	268	59401											
GPA33	10223	broad.mit.edu	37	chr1	167024302	167024302	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgataatgagggctgcAaccacgcccaccgcgatgcc	10	15	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:167024302A>G	uc001gea.1	-	6	1082	c.738T>C	c.(736-738)GTT>GTC	p.V246V		NM_005814	NP_005805	Q99795	GPA33_HUMAN	transmembrane glycoprotein A33 precursor	246	Helical; (Potential).					integral to plasma membrane	receptor activity				0						TGAGGGCTGCAACCACGCCCA	0.577													G	167024302	A	G	167024302	2	3	94	1	0	0	0	0	0	0	0	1	6586	117	5	3		3	GPA33	1	167024302	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	984767	167024302	82226319	269	59402											
RCSD1	92241	broad.mit.edu	37	chr1	167666580	167666580	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgaaaagcctcctctgaGgaggtcacccagcaggacag	12	12	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:167666580G>T	uc001gem.2	+	6	906	c.719G>T	c.(718-720)AGG>ATG	p.R240M	RCSD1_uc010pli.1_Missense_Mutation_p.R210M	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	240	RCSD.									ovary(2)|central_nervous_system(2)|skin(1)	5	all_hematologic(923;0.215)					CCTCCTCTGAGGAGGTCACCC	0.612													T	167666580	G	T	167666580	3	4	94	1	0	0	0	0	1	0	0	0	13185	1000	35	5	741	5	RCSD1	1	167666580	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	642278	167666580	81584041	270	59403											
RCSD1	92241	broad.mit.edu	37	chr1	167666619	167666619	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagaagcaggaggaggacaGggccacagaggaagccaaga	17	7	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:167666619G>T	uc001gem.2	+	6	945	c.758G>T	c.(757-759)AGG>ATG	p.R253M	RCSD1_uc010pli.1_Missense_Mutation_p.R223M	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	253	RCSD.									ovary(2)|central_nervous_system(2)|skin(1)	5	all_hematologic(923;0.215)					GAGGAGGACAGGGCCACAGAG	0.637													T	167666619	G	T	167666619	3	4	94	1	0	0	0	0	1	0	0	0	13185	1000	35	5	780	5	RCSD1	1	167666619	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	39	167666619	81584002	271	59404											
DCAF6	55827	broad.mit.edu	37	chr1	167971724	167971724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgttcttattttttagttgcGacaaccaccagttaagcgtt	7	9	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:167971724G>A	uc001gew.2	+	8	1150	c.908G>A	c.(907-909)CGA>CAA	p.R303Q	DCAF6_uc001gev.2_Missense_Mutation_p.R303Q|DCAF6_uc001gex.2_Missense_Mutation_p.R303Q|DCAF6_uc010plk.1_Missense_Mutation_p.R272Q|DCAF6_uc001gey.2_Missense_Mutation_p.R156Q	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform b	303					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						TTTTAGTTGCGACAACCACCA	0.403													A	167971724	G	A	167971724	3	1	94	1	0	0	0	0	1	0	0	0	4274	1058	37	1	938	1	DCAF6	1	167971724	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	305105	167971724	81278897	272	59405											
C1orf114	57821	broad.mit.edu	37	chr1	169391108	169391108	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattggaaatacataattgTgacagtttcccaaacatatt	5	7	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:169391108T>C	uc001gga.1	-	3	729	c.561A>G	c.(559-561)TCA>TCG	p.S187S	C1orf114_uc001gfz.1_Silent_p.S187S|C1orf114_uc009wvq.1_Silent_p.S187S|C1orf114_uc001ggb.2_Silent_p.S187S|C1orf114_uc001ggc.1_Silent_p.S187S	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	hypothetical protein LOC57821	187											0	all_hematologic(923;0.208)					TACATAATTGTGACAGTTTCC	0.353													C	169391108	T	C	169391108	2	2	94	1	0	0	0	0	0	0	0	1	1987	1683	59	3		3	C1orf114	1	169391108	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1419384	169391108	79859513	273	59406											
F5	2153	broad.mit.edu	37	chr1	169499051	169499051	+	Frame_Shift_Del	DEL	T	T	-													atcaagcctgagtgaatatcTttttcctggaaaaacagagt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:169499050_169499050CT>C	uc001ggg.1	-	15	5360	c.5215_5215AG>G	c.(5215-5217)gatfs	p.D1739fs		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1739	F5/8 type A 3.|Plastocyanin-like 5.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GAGTGAATATCTTTTTCCTGG	0.373													-	169499051	T	-	169499051	7	5	94	1	0	1	0	1	0	0	0	0	5348	1606	56	0	1500	0	F5	1	169499051	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	107943	169499051	79751570	274	59407											
F5	2153	broad.mit.edu	37	chr1	169510286	169510286	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaccgagggctggggaaaGgtttgtttgactgagttctg	16	6	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:169510286G>T	uc001ggg.1	-	13	4187	c.4042C>A	c.(4042-4044)CTT>ATT	p.L1348I		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1348	2-19.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GCTGGGGAAAGGTTTGTTTGA	0.527													T	169510286	G	T	169510286	3	4	94	1	0	0	0	0	1	0	0	0	5348	1000	35	5	2684	5	F5	1	169510286	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	11235	169510286	79740335	275	59408											
C1orf112	55732	broad.mit.edu	37	chr1	169790873	169790873	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaattgtgtcgttttttTgccaactcccttttgcacta	5	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:169790873T>G	uc001ggp.2	+	10	1066	c.756T>G	c.(754-756)TTT>TTG	p.F252L	C1orf112_uc001ggj.2_RNA|C1orf112_uc001ggq.2_Missense_Mutation_p.F252L|C1orf112_uc009wvt.2_5'UTR|C1orf112_uc010plu.1_Missense_Mutation_p.F223L|C1orf112_uc009wvu.1_Intron|C1orf112_uc001ggr.2_Missense_Mutation_p.F117L|C1orf112_uc010plv.1_Missense_Mutation_p.F194L	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	hypothetical protein LOC55732	252											0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTCGTTTTTTTGCCAACTCCC	0.174													G	169790873	T	G	169790873	3	3	94	1	0	0	0	0	1	0	0	0	1985	1809	63	5	782	5	C1orf112	1	169790873	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	280587	169790873	79459748	276	59409											
GORAB	92344	broad.mit.edu	37	chr1	170508692	170508692	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccagattgcaaattggagAaaaagaaagtggaattgtta	11	3	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:170508692A>G	uc001gha.2	+	2	505	c.478A>G	c.(478-480)AAA>GAA	p.K160E	GORAB_uc009wvw.2_3'UTR|GORAB_uc001ggz.3_Missense_Mutation_p.K160E|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR|GORAB_uc001ghc.2_5'UTR	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting isoform a	160						Golgi apparatus|nucleus					0						CAAATTGGAGAAAAAGAAAGT	0.378													G	170508692	A	G	170508692	3	3	94	1	0	0	0	0	1	0	0	0	6574	247	9	3	484	3	GORAB	1	170508692	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	717819	170508692	78741929	277	59410											
METTL13	51603	broad.mit.edu	37	chr1	171752950	171752950	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggctatcgggatatagTgaacatcgacatcagtgagg	14	6	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:171752950T>C	uc001ghz.2	+	2	571	c.224T>C	c.(223-225)GTG>GCG	p.V75A	METTL13_uc001gia.2_5'UTR|METTL13_uc001gib.2_Missense_Mutation_p.V75A|METTL13_uc010pml.1_Missense_Mutation_p.V74A	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN	CGI-01 protein isoform 1	75							methyltransferase activity|protein binding			kidney(1)	1						CGGGATATAGTGAACATCGAC	0.483													C	171752950	T	C	171752950	3	2	94	1	0	0	0	0	1	0	0	0	9497	1696	59	3	230	3	METTL13	1	171752950	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1244258	171752950	77497671	278	59411											
TNN	63923	broad.mit.edu	37	chr1	175046823	175046823	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catcatcttcaggcacaacaTccgccttcagacgccacaga	6	16	4	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:175046823T>A	uc001gkl.1	+	2	382	c.269T>A	c.(268-270)ATC>AAC	p.I90N	TNN_uc010pmx.1_Missense_Mutation_p.I90N	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	90					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGGCACAACATCCGCCTTCAG	0.607													A	175046823	T	A	175046823	3	1	94	1	0	0	0	0	1	0	0	0	16320	1435	50	5	271	5	TNN	1	175046823	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	3293873	175046823	74203798	279	59412											
TNN	63923	broad.mit.edu	37	chr1	175048797	175048797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggcttctgtgacacgggCgagtgctactgcgaggaggg	17	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:175048797C>T	uc001gkl.1	+	3	851	c.738C>T	c.(736-738)GGC>GGT	p.G246G	TNN_uc010pmx.1_Silent_p.G246G	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	246	EGF-like 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTGACACGGGCGAGTGCTACT	0.652													T	175048797	C	T	175048797	2	4	94	1	0	0	0	0	0	0	0	1	16320	755	27	1		1	TNN	1	175048797	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1974	175048797	74201824	280	59413											
TNN	63923	broad.mit.edu	37	chr1	175116131	175116131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacgtggagttgaaaatccGccctcatggctacagcaggg	12	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:175116131G>A	uc001gkl.1	+	19	3937	c.3824G>A	c.(3823-3825)CGC>CAC	p.R1275H		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	1275	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TTGAAAATCCGCCCTCATGGC	0.522											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	175116131	G	A	175116131	3	1	94	1	0	0	0	0	1	0	0	0	16320	1087	38	1	3894	1	TNN	1	175116131	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	67334	175116131	74134490	281	59414											
TNR	7143	broad.mit.edu	37	chr1	175334184	175334184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgggctcagaggtcactGtgccatggacagccacaagg	13	11	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:175334184G>A	uc001gkp.1	-	10	2630	c.2549C>T	c.(2548-2550)ACA>ATA	p.T850I	TNR_uc009wwu.1_Missense_Mutation_p.T850I	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	850	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					AGAGGTCACTGTGCCATGGAC	0.542													A	175334184	G	A	175334184	3	1	94	1	0	0	0	0	1	0	0	0	16335	1377	48	4	1575	4	TNR	1	175334184	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	218053	175334184	73916437	282	59415											
TNR	7143	broad.mit.edu	37	chr1	175360460	175360460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggtaggggggctgcgggCctgttctttcagagccacca	16	11	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:175360460C>T	uc001gkp.1	-	5	1552	c.1471G>A	c.(1471-1473)GCC>ACC	p.A491T	TNR_uc009wwu.1_Missense_Mutation_p.A491T	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	491	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					GGGCTGCGGGCCTGTTCTTTC	0.547													T	175360460	C	T	175360460	3	4	94	1	0	0	0	0	1	0	0	0	16335	739	26	2	2673	2	TNR	1	175360460	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	26276	175360460	73890161	283	59416											
PAPPA2	60676	broad.mit.edu	37	chr1	176738824	176738824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggactgcggtgttcccgacCcgtctttggtgaactatgca	12	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:176738824C>T	uc001gkz.2	+	16	5569	c.4405C>T	c.(4405-4407)CCG>TCG	p.P1469S	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1469	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						TGTTCCCGACCCGTCTTTGGT	0.502													T	176738824	C	T	176738824	3	4	94	1	0	0	0	0	1	0	0	0	11433	623	22	4	4516	4	PAPPA2	1	176738824	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1378364	176738824	72511797	284	59417											
ASTN1	460	broad.mit.edu	37	chr1	177001852	177001852	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagcacagaaggaatgtagTgaatctcattggctgcctca	10	9	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:177001852T>C	uc001glc.2	-	3	817	c.605A>G	c.(604-606)CAC>CGC	p.H202R	ASTN1_uc001glb.1_Missense_Mutation_p.H202R|ASTN1_uc001gld.1_Missense_Mutation_p.H202R|ASTN1_uc009wwx.1_Missense_Mutation_p.H202R|ASTN1_uc001gle.3_RNA	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	202					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						AGGAATGTAGTGAATCTCATT	0.642													C	177001852	T	C	177001852	3	2	94	1	0	0	0	0	1	0	0	0	1064	1696	59	3	3367	3	ASTN1	1	177001852	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	263028	177001852	72248769	285	59418											
RASAL2	9462	broad.mit.edu	37	chr1	178412033	178412033	+	Frame_Shift_Del	DEL	A	A	-													tcacatttacaaggatgtggAaaaaaagaaaaaaaaggaca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:178412033delA	uc001glr.2	+	6	832	c.707delA	c.(706-708)GAAfs	p.E236fs	RASAL2_uc001glq.2_Frame_Shift_Del_p.E384fs	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	236	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						AAGGATGTGGAAAAAAAGAAA	0.403													-	178412033	A	-	178412033	7	5	94	1	0	1	0	1	0	0	0	0	13064	246	9	0	1198	0	RASAL2	1	178412033	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	1410181	178412033	70838588	286	59419											
RASAL2	9462	broad.mit.edu	37	chr1	178425926	178425926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtcattgactaatcctaCgccaatacaacagcaactga	5	12	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:178425926C>T	uc001glr.2	+	11	1984	c.1859C>T	c.(1858-1860)ACG>ATG	p.T620M	RASAL2_uc001glq.2_Missense_Mutation_p.T761M|RASAL2_uc009wxc.2_Missense_Mutation_p.T134M	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	620					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						ACTAATCCTACGCCAATACAA	0.473													T	178425926	C	T	178425926	3	4	94	1	0	0	0	0	1	0	0	0	13064	536	19	1	2370	1	RASAL2	1	178425926	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	13893	178425926	70824695	287	59420											
ABL2	27	broad.mit.edu	37	chr1	179077212	179077212	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcagagccactttagtacCtgctgtgccattggccattt	8	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:179077212C>A	uc001gmj.3	-	12	3477	c.3190G>T	c.(3190-3192)GGT>TGT	p.G1064C	ABL2_uc010pnf.1_Missense_Mutation_p.G961C|ABL2_uc010png.1_Missense_Mutation_p.G940C|ABL2_uc010pnh.1_Missense_Mutation_p.G1043C|ABL2_uc001gmg.3_Missense_Mutation_p.G946C|ABL2_uc001gmi.3_Missense_Mutation_p.G1049C|ABL2_uc001gmh.3_Missense_Mutation_p.G1028C|ABL2_uc010pne.1_Missense_Mutation_p.G925C	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	1064	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	ACTTTAGTACCTGCTGTGCCA	0.537			T	ETV6	AML								A	179077212	C	A	179077212	3	1	94	1	0	0	0	0	1	0	0	0	93	681	24	5	362	5	ABL2	1	179077212	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	651286	179077212	70173409	288	59421											
ABL2	27	broad.mit.edu	37	chr1	179089336	179089336	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcctcacctaaaagttgtAccagattaggatgcttgatt	8	8	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:179089336A>G	uc001gmj.3	-	6	1321	c.1034T>C	c.(1033-1035)GTA>GCA	p.V345A	ABL2_uc010pnf.1_Missense_Mutation_p.V345A|ABL2_uc010png.1_Missense_Mutation_p.V324A|ABL2_uc010pnh.1_Missense_Mutation_p.V324A|ABL2_uc009wxe.2_Missense_Mutation_p.V324A|ABL2_uc001gmg.3_Missense_Mutation_p.V330A|ABL2_uc001gmi.3_Missense_Mutation_p.V330A|ABL2_uc001gmh.3_Missense_Mutation_p.V309A|ABL2_uc010pne.1_Missense_Mutation_p.V309A|ABL2_uc009wxf.1_Missense_Mutation_p.V330A|ABL2_uc001gmk.2_Missense_Mutation_p.V309A	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	345	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TAAAAGTTGTACCAGATTAGG	0.373			T	ETV6	AML								G	179089336	A	G	179089336	3	3	94	1	0	0	0	0	1	0	0	0	93	391	14	3	2587	3	ABL2	1	179089336	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	12124	179089336	70161285	289	59422											
CACNA1E	777	broad.mit.edu	37	chr1	181702772	181702772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgggtcatcagccagagcGagcctgacctctcctgcatc	11	16	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:181702772G>A	uc001gow.2	+	21	3313	c.3148G>A	c.(3148-3150)GAG>AAG	p.E1050K	CACNA1E_uc009wxs.2_Missense_Mutation_p.E938K|CACNA1E_uc001gox.1_Missense_Mutation_p.E276K|CACNA1E_uc009wxt.2_Missense_Mutation_p.E276K	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1050	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						CAGCCAGAGCGAGCCTGACCT	0.652													A	181702772	G	A	181702772	3	1	94	1	0	0	0	0	1	0	0	0	2542	1059	37	1	3230	1	CACNA1E	1	181702772	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2613436	181702772	67547849	290	59423											
CACNA1E	777	broad.mit.edu	37	chr1	181754546	181754546	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agaagcagaggcagcagctgGaggaacaggtgaaagtcaat	15	6	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:181754546G>T	uc001gow.2	+	42	5836	c.5671G>T	c.(5671-5673)GAG>TAG	p.E1891*	CACNA1E_uc009wxs.2_Nonsense_Mutation_p.E1779*|CACNA1E_uc009wxt.2_Nonsense_Mutation_p.E1117*	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1891	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						GCAGCAGCTGGAGGAACAGGT	0.532													T	181754546	G	T	181754546	4	4	94	1	0	0	0	0	0	1	0	0	2542	1175	41	5	5837	5	CACNA1E	1	181754546	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	51774	181754546	67496075	291	59424											
LAMC1	3915	broad.mit.edu	37	chr1	182993180	182993180	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccttcctgaccgactacaAcaaccaggccgacaccacct	6	18	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:182993180A>G	uc001gpy.3	+	1	586	c.329A>G	c.(328-330)AAC>AGC	p.N110S	LAMC1_uc001gpx.2_Missense_Mutation_p.N110S	NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	110	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCGACTACAACAACCAGGCC	0.657											OREG0014040	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	182993180	A	G	182993180	3	3	94	1	0	0	0	0	1	0	0	0	8614	43	2	3	331	3	LAMC1	1	182993180	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1238634	182993180	66257441	292	59425											
LAMC1	3915	broad.mit.edu	37	chr1	183079744	183079744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcctttcttcaatgacCggccgtggaggagggcaact	12	11	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:183079744C>T	uc001gpy.3	+	4	1233	c.976C>T	c.(976-978)CGG>TGG	p.R326W		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	326	Laminin EGF-like 1.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTCAATGACCGGCCGTGGAG	0.478													T	183079744	C	T	183079744	3	4	94	1	0	0	0	0	1	0	0	0	8614	643	23	1	990	1	LAMC1	1	183079744	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	86564	183079744	66170877	293	59426											
SMG7	9887	broad.mit.edu	37	chr1	183510196	183510196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgacgaatacgacagcaacGcttgatctctataggcaaat	8	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:183510196G>A	uc001gqg.2	+	13	1495	c.1373G>A	c.(1372-1374)CGC>CAC	p.R458H	SMG7_uc010pob.1_Missense_Mutation_p.R487H|SMG7_uc001gqf.2_Missense_Mutation_p.R458H|SMG7_uc001gqh.2_Missense_Mutation_p.R458H|SMG7_uc001gqi.2_Missense_Mutation_p.R416H|SMG7_uc010poc.1_Missense_Mutation_p.R416H	NM_173156	NP_775179	Q92540	SMG7_HUMAN	SMG-7 homolog isoform 1	458					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						CGACAGCAACGCTTGATCTCT	0.423													A	183510196	G	A	183510196	3	1	94	1	0	0	0	0	1	0	0	0	14798	1087	38	1	1423	1	SMG7	1	183510196	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	430452	183510196	65740425	294	59427											
C1orf26	54823	broad.mit.edu	37	chr1	185151180	185151180	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttagaagatgatgtacatTcctcctctggtataccctat	6	10	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:185151180T>C	uc001grg.3	+	7	1243	c.1129T>C	c.(1129-1131)TCC>CCC	p.S377P	C1orf26_uc001grh.3_Missense_Mutation_p.S377P	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN	hypothetical protein LOC54823	377											0						TGATGTACATTCCTCCTCTGG	0.353													C	185151180	T	C	185151180	3	2	94	1	0	0	0	0	1	0	0	0	2035	1783	62	3	1151	3	C1orf26	1	185151180	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1640984	185151180	64099441	295	59428											
HMCN1	83872	broad.mit.edu	37	chr1	186056769	186056769	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaaatgctacacattaagAaagctgaggtgcatctttta	8	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:186056769A>G	uc001grq.1	+	60	9584	c.9355A>G	c.(9355-9357)AAA>GAA	p.K3119E		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3119	Ig-like C2-type 29.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ACACATTAAGAAAGCTGAGGT	0.428													G	186056769	A	G	186056769	3	3	94	1	0	0	0	0	1	0	0	0	7220	247	9	3	9593	3	HMCN1	1	186056769	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	905589	186056769	63193852	296	59429											
HMCN1	83872	broad.mit.edu	37	chr1	186060030	186060030	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggaaagcccatagctagtGgtgaaacagaaagaatccgg	12	7	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:186060030G>T	uc001grq.1	+	64	10097	c.9868G>T	c.(9868-9870)GGT>TGT	p.G3290C		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3290	Ig-like C2-type 31.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CATAGCTAGTGGTGAAACAGA	0.358													T	186060030	G	T	186060030	3	4	94	1	0	0	0	0	1	0	0	0	7220	1348	47	5	10122	5	HMCN1	1	186060030	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3261	186060030	63190591	297	59430											
PRG4	10216	broad.mit.edu	37	chr1	186276815	186276815	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcacccaccacccctgaggAgcccacacccaccacccctg	6	24	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:186276815A>G	uc001gru.3	+	7	2015	c.1964A>G	c.(1963-1965)GAG>GGG	p.E655G	PRG4_uc001grt.3_Missense_Mutation_p.E614G|PRG4_uc009wyl.2_Missense_Mutation_p.E562G|PRG4_uc009wym.2_Missense_Mutation_p.E521G|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	655	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						ACCCCTGAGGAGCCCACACCC	0.672													G	186276815	A	G	186276815	3	3	94	1	0	0	0	0	1	0	0	0	12481	304	11	3	1986	3	PRG4	1	186276815	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	216785	186276815	62973806	298	59431											
PLA2G4A	5321	broad.mit.edu	37	chr1	186880397	186880397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagctcatgcccagacctacGatttagtatggctctgtgtg	10	11	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:186880397G>A	uc001gsc.2	+	7	639	c.434G>A	c.(433-435)CGA>CAA	p.R145Q	PLA2G4A_uc010pos.1_Intron	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	145	Phospholipid binding (Probable).|PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	CCAGACCTACGATTTAGTATG	0.453													A	186880397	G	A	186880397	3	1	94	1	0	0	0	0	1	0	0	0	12001	1058	37	1	456	1	PLA2G4A	1	186880397	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	603582	186880397	62370224	299	59432											
FAM5C	339479	broad.mit.edu	37	chr1	190129864	190129864	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taaggctaaaaagcttgtgtAcaattttctgcgcctttagg	9	7	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:190129864A>T	uc001gse.1	-	7	1350	c.1118T>A	c.(1117-1119)GTA>GAA	p.V373E	FAM5C_uc010pot.1_Missense_Mutation_p.V271E	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	373						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					AAGCTTGTGTACAATTTTCTG	0.388													T	190129864	A	T	190129864	3	4	94	1	0	0	0	0	1	0	0	0	5594	391	14	5	1190	5	FAM5C	1	190129864	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	3249467	190129864	59120757	300	59433											
FAM5C	339479	broad.mit.edu	37	chr1	190129921	190129921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttctccagttgttcataaCggcgctgaaaattagaatcc	8	9	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:190129921C>T	uc001gse.1	-	7	1293	c.1061G>A	c.(1060-1062)CGT>CAT	p.R354H	FAM5C_uc010pot.1_Missense_Mutation_p.R252H	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	354						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					TTGTTCATAACGGCGCTGAAA	0.363													T	190129921	C	T	190129921	3	4	94	1	0	0	0	0	1	0	0	0	5594	536	19	1	1247	1	FAM5C	1	190129921	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	57	190129921	59120700	301	59434											
RGS21	431704	broad.mit.edu	37	chr1	192316519	192316519	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacgcttttagccaaccaaGgtaagatttaactaataata	5	8	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:192316519G>T	uc001gsh.2	+	3	262	c.88G>T	c.(88-90)GCT>TCT	p.A30S		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	30	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|skin(1)	2						AGCCAACCAAGGTAAGATTTA	0.299													T	192316519	G	T	192316519	3	4	94	1	0	0	0	0	1	0	0	0	13304	1014	35	5	94	5	RGS21	1	192316519	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2186598	192316519	56934102	302	59435											
CFHR1	3078	broad.mit.edu	37	chr1	196799650	196799650	+	Frame_Shift_Del	DEL	C	C	-													attctacgggaaaatgtgggCcccctccacctattgacaat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:196799650delC	uc001gtn.2	+	5	742	c.628delC	c.(628-630)CCCfs	p.P210fs	CFHR1_uc001gtm.2_Frame_Shift_Del_p.P114fs	NM_002113	NP_002104	Q03591	FHR1_HUMAN	complement factor H-related 1 precursor	210	Sushi 4.				complement activation	extracellular space					0						AAAATGTGGGCCCCCTCCACC	0.383													-	196799650	C	-	196799650	7	5	94	1	0	1	0	1	0	0	0	0	3284	739	26	0	646	0	CFHR1	1	196799650	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	4483131	196799650	52450971	303	59436											
F13B	2165	broad.mit.edu	37	chr1	197030158	197030158	+	Frame_Shift_Del	DEL	G	G	-													cttcactttgaatgttttctGtgttgtggaataatttccat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:197030157_197030157TG>T	uc001gtt.1	-	3	544	c.500_500CA>A	c.(499-501)cagfs	p.Q167fs		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	167	Sushi 3.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GAATGTTTTCTGTGTTGTGGA	0.308													-	197030158	G	-	197030158	7	5	94	1	0	1	0	1	0	0	0	0	5341	1386	48	0	1522	0	F13B	1	197030158	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	230508	197030158	52220463	304	59437											
ASPM	259266	broad.mit.edu	37	chr1	197069676	197069676	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtaaatagacttgtcttTgatgttttgcagacagaaat	8	5	2	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:197069676T>C	uc001gtu.2	-	18	8962	c.8705A>G	c.(8704-8706)CAA>CGA	p.Q2902R	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.Q750R	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2902					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						GACTTGTCTTTGATGTTTTGC	0.328													C	197069676	T	C	197069676	3	2	94	1	0	0	0	0	1	0	0	0	1056	1812	63	3	1772	3	ASPM	1	197069676	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	39518	197069676	52180945	305	59438											
ASPM	259266	broad.mit.edu	37	chr1	197091176	197091176	+	Splice_Site	DEL	A	A	-													caaataggtaataaccacctAaaaaaaacccacaaaagata							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:197091175_197091175TA>T	uc001gtu.3	-	16	3999	c.3742_splice	c.e16-1	p.V1248_splice	ASPM_uc001gtv.3_Splice_Site_p.V1248_splice|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1248					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATAACCACCTAAAAAAAACC	0.303													-	197091176	A	-	197091176	8	5	94	1	0	1	0	1	0	0	1	0	1056	377	13	0		0	ASPM	1	197091176	Splice_Site	DEL	A	TCGA-BR-8487-01A-11D-2394-08	21500	197091176	52159445	306	59439											
DENND1B	163486	broad.mit.edu	37	chr1	197611862	197611862	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttaatttgctcgagatAatcacgatgcgcctttcatg	9	9	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:197611862A>G	uc001guf.3	-	10	989	c.651T>C	c.(649-651)ATT>ATC	p.I217I	DENND1B_uc010ppe.1_Silent_p.I197I|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Silent_p.I187I|DENND1B_uc001gug.3_Silent_p.I16I	NM_144977	NP_659414	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B isoform 2	217	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0						TGCTCGAGATAATCACGATGC	0.383													G	197611862	A	G	197611862	2	3	94	1	0	0	0	0	0	0	0	1	4427	358	13	3		3	DENND1B	1	197611862	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	520686	197611862	51638759	307	59440											
CAMSAP1L1	23271	broad.mit.edu	37	chr1	200818775	200818775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgtcctactcacccatctCcacagtcttctaacaggaaa	4	16	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:200818775C>T	uc001gvl.2	+	12	3181	c.2911C>T	c.(2911-2913)CCA>TCA	p.P971S	CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.P960S|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.P944S	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	971						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TCACCCATCTCCACAGTCTTC	0.438													T	200818775	C	T	200818775	3	4	94	1	0	0	0	0	1	0	0	0	2612	855	30	4	2920	4	CAMSAP1L1	1	200818775	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3206913	200818775	48431846	308	59441											
IGFN1	91156	broad.mit.edu	37	chr1	201190657	201190657	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggctgggccagacacccaGgaaggggatgaagcccaggg	18	10	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:201190657G>T	uc001gwc.2	+	8	2236	c.1464G>T	c.(1462-1464)CAG>CAT	p.Q488H	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						CAGACACCCAGGAAGGGGATG	0.617													T	201190657	G	T	201190657	3	4	94	1	0	0	0	0	1	0	0	0	7590	991	35	5	10054	5	IGFN1	1	201190657	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	371882	201190657	48059964	309	59442											
PKP1	5317	broad.mit.edu	37	chr1	201282596	201282596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagtgccctgtgcgcccGccctcttgtgcctccaagca	10	16	1	1	rs148914791		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:201282596G>A	uc001gwd.2	+	3	860	c.609G>A	c.(607-609)CCG>CCA	p.P203P	PKP1_uc001gwe.2_Silent_p.P203P|PKP1_uc009wzm.2_Intron	NM_000299	NP_000290	Q13835	PKP1_HUMAN	plakophilin 1 isoform 1b	203					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			ovary(2)	2						CTGTGCGCCCGCCCTCTTGTG	0.597													A	201282596	G	A	201282596	2	1	94	1	0	0	0	0	0	0	0	1	11984	1074	38	1		1	PKP1	1	201282596	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	91939	201282596	47968025	310	59443											
NAV1	89796	broad.mit.edu	37	chr1	201618347	201618347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctatgcggaggtcaagcCgctcagcaaggcgcctgaag	13	13	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:201618347C>T	uc001gwu.2	+	1	898	c.551C>T	c.(550-552)CCG>CTG	p.P184L		NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	184					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						GAGGTCAAGCCGCTCAGCAAG	0.687													T	201618347	C	T	201618347	3	4	94	1	0	0	0	0	1	0	0	0	10183	652	23	1	553	1	NAV1	1	201618347	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	335751	201618347	47632274	311	59444											
RNPEP	6051	broad.mit.edu	37	chr1	201970518	201970518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccaggcgttgacccggacGacacctataatgagaccccc	10	15	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:201970518G>A	uc001gxd.2	+	7	1248	c.1219G>A	c.(1219-1221)GAC>AAC	p.D407N	RNPEP_uc001gxe.2_Missense_Mutation_p.D108N|RNPEP_uc001gxf.2_Missense_Mutation_p.D276N	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase	407					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			upper_aerodigestive_tract(1)	1				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TGACCCGGACGACACCTATAA	0.488													A	201970518	G	A	201970518	3	1	94	1	0	0	0	0	1	0	0	0	13509	1058	37	1	1245	1	RNPEP	1	201970518	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	352171	201970518	47280103	312	59445											
PTPN7	5778	broad.mit.edu	37	chr1	202128443	202128443	+	Frame_Shift_Del	DEL	T	T	-													cacatgcttcttggctggcgTtttttcaggcggaggctggg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:202128442_202128442GT>G	uc001gxn.2	-	1	1185	c.89_89AC>C	c.(88-90)acgfs	p.T30fs	PTPN7_uc001gxl.2_Frame_Shift_Del_p.T69fs|PTPN7_uc001gxm.2_Frame_Shift_Del_p.T135fs|PTPN7_uc010ppx.2_Frame_Shift_Del_p.T104fs|PTPN7_uc010ppw.2_5'UTR|PTPN7_uc010ppy.2_Non-coding_Transcript|PTPN7_uc001gxo.1_5'Flank	NM_002832	NP_002823	P35236	PTN7_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 7 (PTPN7), transcript variant 1, mRNA.	30						cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CTTGGCTGGCGTTTTTTCAGG	0.637													-	202128443	T	-	202128443	7	5	94	1	0	1	0	1	0	0	0	0	12793	1725	60	0	1030	0	PTPN7	1	202128443	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	157925	202128443	47122178	313	59446											
SYT2	127833	broad.mit.edu	37	chr1	202569569	202569569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggccgtgggcacatagcGcagggaggtgcagatgtcgc	17	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:202569569G>A	uc001gye.2	-	7	1028	c.835C>T	c.(835-837)CGC>TGC	p.R279C	SYT2_uc010pqb.1_Missense_Mutation_p.R279C|SYT2_uc009xaf.2_Missense_Mutation_p.R109C	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	synaptotagmin II	279	Phospholipid binding (By similarity).|C2 2.|Cytoplasmic (Potential).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GGCACATAGCGCAGGGAGGTG	0.602											OREG0014101	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	202569569	G	A	202569569	3	1	94	1	0	0	0	0	1	0	0	0	15471	1087	38	1	436	1	SYT2	1	202569569	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	441126	202569569	46681052	314	59447											
SYT2	127833	broad.mit.edu	37	chr1	202572238	202572238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggcctgtctctgcgtcGtcgtcatcctgtgggagctg	14	12	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:202572238G>A	uc001gye.2	-	4	547	c.354C>T	c.(352-354)GAC>GAT	p.D118D	SYT2_uc010pqb.1_Silent_p.D118D|SYT2_uc009xaf.2_Translation_Start_Site	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	synaptotagmin II	118	Cytoplasmic (Potential).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TCTCTGCGTCGTCGTCATCCT	0.562													A	202572238	G	A	202572238	2	1	94	1	0	0	0	0	0	0	0	1	15471	1136	40	1		1	SYT2	1	202572238	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2669	202572238	46678383	315	59448											
MYOG	4656	broad.mit.edu	37	chr1	203055031	203055031	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggacaggcaggtagtttTccccatcatagaagcggggt	15	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:203055031T>C	uc001gzd.2	-	1	347	c.59A>G	c.(58-60)GAA>GGA	p.E20G		NM_002479	NP_002470	P15173	MYOG_HUMAN	myogenin	20					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			skin(2)	2						CAGGTAGTTTTCCCCATCATA	0.617													C	203055031	T	C	203055031	3	2	94	1	0	0	0	0	1	0	0	0	10090	1783	62	3	627	3	MYOG	1	203055031	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	482793	203055031	46195590	316	59449											
MYBPH	4608	broad.mit.edu	37	chr1	203143632	203143632	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagaactcactgcagacAcgcgcaggaggaacttgtct	11	12	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:203143632A>G	uc001gzh.1	-	3	493	c.434T>C	c.(433-435)GTG>GCG	p.V145A	FMOD_uc010pqi.1_Intron	NM_004997	NP_004988	Q13203	MYBPH_HUMAN	myosin binding protein H	145	Fibronectin type-III 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle				0			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		CACTGCAGACACGCGCAGGAG	0.632													G	203143632	A	G	203143632	3	3	94	1	0	0	0	0	1	0	0	0	10014	159	6	3	1031	3	MYBPH	1	203143632	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	88601	203143632	46106989	317	59450											
CHIT1	1118	broad.mit.edu	37	chr1	203192702	203192702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcccagtcaaggtcaaggCcgtcaaagctgtatttgcgc	10	12	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:203192702C>T	uc001gzn.2	-	5	497	c.401G>A	c.(400-402)GGC>GAC	p.G134D	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.G125D	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	chitotriosidase precursor	134					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0						AAGGTCAAGGCCGTCAAAGCT	0.582													T	203192702	C	T	203192702	3	4	94	1	0	0	0	0	1	0	0	0	3346	739	26	2	1027	2	CHIT1	1	203192702	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	49070	203192702	46057919	318	59451											
OPTC	26254	broad.mit.edu	37	chr1	203467949	203467949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatcagccgtatcagggccGaagacttcaaagggctgagt	13	10	3	2	rs75709549	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:203467949G>A	uc001gzu.1	+	4	627	c.511G>A	c.(511-513)GAA>AAA	p.E171K		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	opticin precursor	171	LRR 1.					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.109)			TATCAGGGCCGAAGACTTCAA	0.537													A	203467949	G	A	203467949	3	1	94	1	0	0	0	0	1	0	0	0	10888	1059	37	1	521	1	OPTC	1	203467949	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	275247	203467949	45782672	319	59452											
PIK3C2B	5287	broad.mit.edu	37	chr1	204416659	204416660	+	Frame_Shift_Ins	INS	-	-	G													gggggctgaacttgtctccaINSggggggctggtgaacttgat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:204416659_204416660insG	uc001haw.2	-	16	2872_2873	c.2393_2394insC	c.(2392-2394)CCTfs	p.P798fs	PIK3C2B_uc010pqv.1_Frame_Shift_Ins_p.P798fs	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	798					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ACTTGTCTCCAGGGGGGCTGGT	0.545													G	204416660	-	G	204416659	7	5	94	1	0	1	1	0	0	0	0	0	11910	175	7	0	2586	0	PIK3C2B	1	204416659	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	948710	204416659	44833962	320	59453	264	2									
PIK3C2B	5287	broad.mit.edu	37	chr1	204416660	204416661	+	Frame_Shift_Ins	INS	-	-	G													ggggctgaacttgtctccagINSgggggctggtgaacttgatg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:204416659_204416660A>AG	uc001haw.3	-	15	2872_2873	c.2393_2394T>CT	c.(2392-2394)cctfs	p.P798fs	PIK3C2B_uc010pqv.2_Frame_Shift_Ins_p.P798fs	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	798					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ACTTGTCTCCAGGGGGGCTGGT	0.545													G	204416661	-	G	204416660	7	5	94	1	0	1	1	0	0	0	0	0	11910	1000	35	0	2587	0	PIK3C2B	1	204416660	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	204416660	44833961	321	59454	264	2									
LRRN2	10446	broad.mit.edu	37	chr1	204588366	204588366	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttccagtgcccgcctgggcAcccgggccagctggttgtca	14	15	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:204588366A>G	uc001hbe.1	-	3	1143	c.755T>C	c.(754-756)GTG>GCG	p.V252A	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.V252A|LRRN2_uc009xbf.1_Missense_Mutation_p.V252A|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	252	Extracellular (Potential).|LRR 8.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CCGCCTGGGCACCCGGGCCAG	0.632													G	204588366	A	G	204588366	3	3	94	1	0	0	0	0	1	0	0	0	9035	159	6	3	1390	3	LRRN2	1	204588366	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	171706	204588366	44662255	322	59455											
LRRN2	10446	broad.mit.edu	37	chr1	204589060	204589060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatgccagggtaccacggGcacagcggcagtggcaccag	14	13	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:204589060G>A	uc001hbe.1	-	3	449	c.61C>T	c.(61-63)CCC>TCC	p.P21S	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.P21S|LRRN2_uc009xbf.1_Missense_Mutation_p.P21S|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	21	Extracellular (Potential).|LRRNT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGTACCACGGGCACAGCGGCA	0.647													A	204589060	G	A	204589060	3	1	94	1	0	0	0	0	1	0	0	0	9035	1203	42	2	2084	2	LRRN2	1	204589060	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	694	204589060	44661561	323	59456											
NFASC	23114	broad.mit.edu	37	chr1	204985509	204985509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaagcagcaggagagtgacGacagcctggtggactatggc	15	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:204985509G>A	uc001hbj.2	+	30	3893	c.3565G>A	c.(3565-3567)GAC>AAC	p.D1189N	NFASC_uc010pra.1_Missense_Mutation_p.D1123N|NFASC_uc001hbi.2_Missense_Mutation_p.D1118N|NFASC_uc010prb.1_Missense_Mutation_p.D1138N|NFASC_uc010prc.1_Missense_Mutation_p.D689N|NFASC_uc001hbl.1_Missense_Mutation_p.D265N|NFASC_uc001hbm.1_Missense_Mutation_p.D212N|NFASC_uc009xbh.1_Silent_p.T43T|NFASC_uc001hbo.1_Silent_p.T64T	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	1296	Cytoplasmic (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGAGAGTGACGACAGCCTGGT	0.552													A	204985509	G	A	204985509	3	1	94	1	0	0	0	0	1	0	0	0	10359	1058	37	1	4088	1	NFASC	1	204985509	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	396449	204985509	44265112	324	59457											
DSTYK	25778	broad.mit.edu	37	chr1	205130412	205130412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagacatcctgtaaagaaCagctttccagagaaaggcgg	11	9	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:205130412C>T	uc001hbw.2	-	7	1986	c.1922G>A	c.(1921-1923)TGT>TAT	p.C641Y	DSTYK_uc001hbx.2_Missense_Mutation_p.C641Y|DSTYK_uc001hby.1_Missense_Mutation_p.C102Y	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	641				C -> R (in Ref. 1; AAP42418/AAS55390, 2; AAF65505, 4; AAH53627/AAH72406/AAI17412/ AAI43604 and 5; BAA32317).		cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						CTGTAAAGAACAGCTTTCCAG	0.502													T	205130412	C	T	205130412	3	4	94	1	0	0	0	0	1	0	0	0	4785	478	17	4	895	4	DSTYK	1	205130412	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	144903	205130412	44120209	325	59458											
CDK18	5129	broad.mit.edu	37	chr1	205496979	205496979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaccaccgcaagatcctgCaccgggacctgaagccccag	10	17	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:205496979C>T	uc001hcr.2	+	9	1096	c.877C>T	c.(877-879)CAC>TAC	p.H293Y	CDK18_uc001hcp.2_Missense_Mutation_p.H263Y|CDK18_uc001hcq.2_Missense_Mutation_p.H263Y|CDK18_uc010prj.1_Missense_Mutation_p.H174Y|CDK18_uc001hcs.2_Missense_Mutation_p.H174Y|CDK18_uc009xbm.1_Missense_Mutation_p.H188Y|CDK18_uc001hct.2_5'Flank	NM_212503	NP_997668	Q07002	CDK18_HUMAN	PCTAIRE protein kinase 3 isoform a	261	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			stomach(2)	2						CAAGATCCTGCACCGGGACCT	0.627													T	205496979	C	T	205496979	3	4	94	1	0	0	0	0	1	0	0	0	3134	710	25	2	907	2	CDK18	1	205496979	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	366567	205496979	43753642	326	59459											
C1orf186	440712	broad.mit.edu	37	chr1	206241649	206241649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaacctggagactggccGctttcagtatctgttcactc	11	11	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:206241649G>A	uc001hdt.1	-	4	779	c.140C>T	c.(139-141)GCG>GTG	p.A47V		NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	hypothetical protein LOC440712	47						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GAGACTGGCCGCTTTCAGTAT	0.443													A	206241649	G	A	206241649	3	1	94	1	0	0	0	0	1	0	0	0	2020	1087	38	1	390	1	C1orf186	1	206241649	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	744670	206241649	43008972	327	59460											
LGTN	1939	broad.mit.edu	37	chr1	206784635	206784635	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagcatacaacttcacaAtgttgagctcctcctttcca	6	12	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:206784635A>G	uc001heh.2	-	2	358	c.149T>C	c.(148-150)ATT>ACT	p.I50T	LGTN_uc009xbw.2_Missense_Mutation_p.I50T|LGTN_uc010prw.1_Missense_Mutation_p.I50T	NM_006893	NP_008824	P41214	EIF2D_HUMAN	ligatin	50					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CAACTTCACAATGTTGAGCTC	0.473													G	206784635	A	G	206784635	3	3	94	1	0	0	0	0	1	0	0	0	8760	101	4	3	1661	3	LGTN	1	206784635	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	542986	206784635	42465986	328	59461											
DYRK3	8444	broad.mit.edu	37	chr1	206821130	206821130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatgatgatgcagatggggCctatattcatgtacctcgag	12	7	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:206821130C>T	uc001hej.2	+	3	755	c.587C>T	c.(586-588)GCC>GTC	p.A196V	DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.A176V	NM_003582	NP_003573	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	196					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|central_nervous_system(1)	3	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GCAGATGGGGCCTATATTCAT	0.428													T	206821130	C	T	206821130	3	4	94	1	0	0	0	0	1	0	0	0	4857	739	26	2	618	2	DYRK3	1	206821130	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	36495	206821130	42429491	329	59462											
FAIM3	9214	broad.mit.edu	37	chr1	207087395	207087395	+	Frame_Shift_Del	DEL	C	C	-													ggtaactgatccgcccagctCcccctctacctttacttctg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:207087394_207087394TC>T	uc001hey.3	-	1	262	c.83_83GA>A	c.(82-84)gagfs	p.E28fs	FAIM3_uc010prz.2_Intron|FAIM3_uc021pif.1_Frame_Shift_Del_p.E28fs|FAIM3_uc010psa.2_5'UTR	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 3 (FAIM3), transcript variant 1, mRNA.	28					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TCCGCCCAGCTCCCCCTCTAC	0.542													-	207087395	C	-	207087395	7	5	94	1	0	1	0	1	0	0	0	0	5377	864	30	0	1118	0	FAIM3	1	207087395	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	266265	207087395	42163226	330	59463											
CR1	1378	broad.mit.edu	37	chr1	207739262	207739262	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaatagcagtgttccagtgTgtgaacgtgagtaataggag	15	4	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:207739262T>C	uc001hfy.2	+	16	2736	c.2596T>C	c.(2596-2598)TGT>CGT	p.C866R	CR1_uc009xcl.1_Intron|CR1_uc001hfx.2_Missense_Mutation_p.C1316R|CR1_uc009xck.1_Intron	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	866	Extracellular (Potential).|Sushi 13.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TGTTCCAGTGTGTGAACGTGA	0.413													C	207739262	T	C	207739262	3	2	94	1	0	0	0	0	1	0	0	0	3840	1696	59	3	4040	3	CR1	1	207739262	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	651867	207739262	41511359	331	59464											
PLXNA2	5362	broad.mit.edu	37	chr1	208202363	208202363	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgggggttcttaatcacGttcacccagaagcgcagagg	12	10	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:208202363G>A	uc001hgz.2	-	30	6008	c.5250C>T	c.(5248-5250)AAC>AAT	p.N1750N	PLXNA2_uc001hgy.2_Silent_p.N20N	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1750	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCTTAATCACGTTCACCCAGA	0.567													A	208202363	G	A	208202363	2	1	94	1	0	0	0	0	0	0	0	1	12120	1136	40	1		1	PLXNA2	1	208202363	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	463101	208202363	41048258	332	59465											
IRF6	3664	broad.mit.edu	37	chr1	209965706	209965706	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggggttcagttttgggcCacactgcctccgggctgcag	14	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:209965706C>T	uc001hhq.1	-	6	838	c.575G>A	c.(574-576)TGG>TAG	p.W192*	IRF6_uc010psm.1_Nonsense_Mutation_p.W97*|IRF6_uc009xct.1_Nonsense_Mutation_p.W192*	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6	192					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AGTTTTGGGCCACACTGCCTC	0.547										HNSCC(57;0.16)			T	209965706	C	T	209965706	4	4	94	1	0	0	0	0	0	1	0	0	7834	595	21	4	844	4	IRF6	1	209965706	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1763343	209965706	39284915	333	59466											
DTL	51514	broad.mit.edu	37	chr1	212274197	212274197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccagtatctcagagcctcCgtctcctatcagtccgtatg	7	14	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:212274197C>T	uc009xdc.2	+	14	2179	c.1865C>T	c.(1864-1866)CCG>CTG	p.P622L	DTL_uc010ptb.1_Missense_Mutation_p.P580L|DTL_uc001hiz.3_Missense_Mutation_p.P351L	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	denticleless homolog	622					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TCAGAGCCTCCGTCTCCTATC	0.478													T	212274197	C	T	212274197	3	4	94	1	0	0	0	0	1	0	0	0	4787	652	23	1	1919	1	DTL	1	212274197	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2308491	212274197	36976424	334	59467											
USH2A	7399	broad.mit.edu	37	chr1	215847625	215847625	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaagatctcctgaggacccCtggcctgcaattttggaggt	11	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:215847625C>A	uc001hku.1	-	63	14015	c.13628G>T	c.(13627-13629)AGG>ATG	p.R4543M		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4543	Fibronectin type-III 31.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGAGGACCCCTGGCCTGCAA	0.488										HNSCC(13;0.011)			A	215847625	C	A	215847625	3	1	94	1	0	0	0	0	1	0	0	0	17033	681	24	5	2020	5	USH2A	1	215847625	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3573428	215847625	33402996	335	59468											
USH2A	7399	broad.mit.edu	37	chr1	216166450	216166450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggcacgccttcgggtatGtcctcgtcagttagggcctc	13	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:216166450G>A	uc001hku.1	-	35	7104	c.6717C>T	c.(6715-6717)GAC>GAT	p.D2239D		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2239	Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTCGGGTATGTCCTCGTCAG	0.522										HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	216166450	G	A	216166450	2	1	94	1	0	0	0	0	0	0	0	1	17033	1368	48	4		4	USH2A	1	216166450	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	318825	216166450	33084171	336	59469											
SPATA17	128153	broad.mit.edu	37	chr1	218036193	218036193	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaagctggacagattgtAtaaaggtatgactttttgct	9	5	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:218036193A>G	uc001hlh.1	+	10	1109	c.1083A>G	c.(1081-1083)GTA>GTG	p.V361V	SPATA17_uc001hli.2_Silent_p.V361V	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	361						cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		GACAGATTGTATAAAGGTATG	0.289													G	218036193	A	G	218036193	2	3	94	1	0	0	0	0	0	0	0	1	15001	436	16	3		3	SPATA17	1	218036193	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1869743	218036193	31214428	337	59470											
SLC30A10	55532	broad.mit.edu	37	chr1	220091799	220091799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtgatgaccacaaccacGgaccccagggcatctcccat	9	17	1	2	rs143340726		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:220091799G>A	uc001hlw.2	-	3	967	c.756C>T	c.(754-756)TCC>TCT	p.S252S	SLC30A10_uc001hlu.1_RNA|SLC30A10_uc001hlv.2_Silent_p.S7S|SLC30A10_uc001hlx.2_Silent_p.S27S	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	solute carrier family 30 (zinc transporter),	252	Helical; (Potential).				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		CCACAACCACGGACCCCAGGG	0.527													A	220091799	G	A	220091799	2	1	94	1	0	0	0	0	0	0	0	1	14554	1103	39	1		1	SLC30A10	1	220091799	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2055606	220091799	29158822	338	59471											
BPNT1	10380	broad.mit.edu	37	chr1	220233097	220233097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaccaggacttgcaaataCataagcagaggctttgcctt	8	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:220233097C>T	uc001hma.2	-	8	881	c.709G>A	c.(709-711)GTA>ATA	p.V237I	BPNT1_uc010pug.1_Missense_Mutation_p.V182I|BPNT1_uc010puh.1_Missense_Mutation_p.V201I|BPNT1_uc001hmb.3_Missense_Mutation_p.V252I	NM_006085	NP_006076	O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	237					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0558)		CTTGCAAATACATAAGCAGAG	0.343													T	220233097	C	T	220233097	3	4	94	1	0	0	0	0	1	0	0	0	1494	478	17	4	225	4	BPNT1	1	220233097	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	141298	220233097	29017524	339	59472											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220369665	220369666	+	Frame_Shift_Ins	INS	-	-	T													agacatggcaggtggactatINSttttaattgctgcattaaat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:220369664_220369665A>AT	uc010puk.1	-	9	1051_1052	c.887_888T>AT	c.(886-888)aatfs	p.N296fs	RAB3GAP2_uc021pjf.1_Frame_Shift_Ins_p.N296fs|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_5'UTR	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	296					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CAGGTGGACTATTTTTAATTGC	0.356													T	220369666	-	T	220369665	7	5	94	1	0	1	1	0	0	0	0	0	12936	1493	52	0	3398	0	RAB3GAP2	1	220369665	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	136568	220369665	28880956	340	59473											
MARK1	4139	broad.mit.edu	37	chr1	220825486	220825486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacggctctgaagcttaccGgcctgggtaatgtgttggtt	14	8	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:220825486G>A	uc001hmn.3	+	15	2327	c.1730G>A	c.(1729-1731)CGG>CAG	p.R577Q	MARK1_uc009xdw.2_Missense_Mutation_p.R577Q|MARK1_uc010pun.1_Missense_Mutation_p.R577Q|MARK1_uc001hmm.3_Missense_Mutation_p.R555Q	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	577					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)		GAAGCTTACCGGCCTGGGTAA	0.438													A	220825486	G	A	220825486	3	1	94	1	0	0	0	0	1	0	0	0	9312	1116	39	1	1788	1	MARK1	1	220825486	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	455821	220825486	28425135	341	59474											
HLX	3142	broad.mit.edu	37	chr1	221057925	221057925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtagcagcagcaccagtgCgggttgcgccagcagccttg	14	12	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:221057925C>T	uc001hmv.3	+	4	1803	c.1346C>T	c.(1345-1347)GCG>GTG	p.A449V		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	449	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)		agcaccagtgcgggttgcgcc	0.249													T	221057925	C	T	221057925	3	4	94	1	0	0	0	0	1	0	0	0	7216	768	27	1	1360	1	HLX	1	221057925	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	232439	221057925	28192696	342	59475											
HHIPL2	79802	broad.mit.edu	37	chr1	222713509	222713509	+	Frame_Shift_Del	DEL	G	G	-													cctcggccctggcgcgtgatGgggtcccctcggtccacagc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:222713508_222713508TG>T	uc001hnh.1	-	3	1352	c.1294_1294CA>A	c.(1294-1296)atcfs	p.I432fs		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	432					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TGGCGCGTGATGGGGTCCCCT	0.577													-	222713509	G	-	222713509	7	5	94	1	0	1	0	1	0	0	0	0	7094	1335	47	0	905	0	HHIPL2	1	222713509	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	1655584	222713509	26537112	343	59476											
TAF1A	9015	broad.mit.edu	37	chr1	222732052	222732052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcacagatctcttcatccGcttaattttcttccctaaga	3	12	4	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:222732052G>A	uc009xdz.1	-	11	1492	c.1303C>T	c.(1303-1305)CGG>TGG	p.R435W	TAF1A_uc009xdy.1_Missense_Mutation_p.R126W|TAF1A_uc001hni.1_Missense_Mutation_p.R321W|TAF1A_uc001hnj.2_Missense_Mutation_p.R435W|TAF1A_uc001hnk.2_Missense_Mutation_p.R321W	NM_139352	NP_647603	Q15573	TAF1A_HUMAN	TBP-associated factor 1A isoform 2	435					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding				0				GBM - Glioblastoma multiforme(131;0.0186)		CTCTTCATCCGCTTAATTTTC	0.303													A	222732052	G	A	222732052	3	1	94	1	0	0	0	0	1	0	0	0	15516	1086	38	1	53	1	TAF1A	1	222732052	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	18543	222732052	26518569	344	59477											
FBXO28	23219	broad.mit.edu	37	chr1	224302029	224302029	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaacaacacgcttgtggcGctgcccatcgtagccatcga	9	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:224302029G>A	uc001hoh.2	+	1	239	c.198G>A	c.(196-198)GCG>GCA	p.A66A	FBXO28_uc009xef.2_Silent_p.A66A|FBXO28_uc010pvc.1_5'UTR	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	F-box protein 28 isoform a	66	F-box.									ovary(2)|kidney(2)|lung(1)	5	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		CGCTTGTGGCGCTGCCCATCG	0.667													A	224302029	G	A	224302029	2	1	94	1	0	0	0	0	0	0	0	1	5738	1074	38	1		1	FBXO28	1	224302029	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1569977	224302029	24948592	345	59478											
NVL	4931	broad.mit.edu	37	chr1	224488309	224488309	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttctgctcagactctccGgatactccagacacaatctc	6	15	4	2	rs143457273		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:224488309G>A	uc001hok.2	-	10	1060	c.1017C>T	c.(1015-1017)TCC>TCT	p.S339S	NVL_uc001hol.2_Silent_p.S233S|NVL_uc010pvd.1_Silent_p.S248S|NVL_uc010pve.1_Silent_p.S150S|NVL_uc010pvf.1_RNA	NM_002533	NP_002524	O15381	NVL_HUMAN	nuclear VCP-like isoform 1	339						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			skin(2)	2				GBM - Glioblastoma multiforme(131;0.00501)		CAGACTCTCCGGATACTCCAG	0.408													A	224488309	G	A	224488309	2	1	94	1	0	0	0	0	0	0	0	1	10780	1103	39	1		1	NVL	1	224488309	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	186280	224488309	24762312	346	59479											
PYCR2	29920	broad.mit.edu	37	chr1	226108959	226108959	+	Frame_Shift_Del	DEL	C	C	-													tgatgagcagagagcggaagCccccactctctagaaagtgc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:226108958_226108958GC>G	uc010pvj.2	-	4	680	c.525_525GC>C	c.(523-525)ggcfs	p.G175fs	PYCR2_uc001hpq.3_Frame_Shift_Del_p.G249fs			Q96C36	P5CR2_HUMAN	Homo sapiens left-right determination factor 1 (LEFTY1), mRNA.	249					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	GAGAGCGGAAGCCCCCACTCT	0.592													-	226108959	C	-	226108959	7	5	94	1	0	1	0	1	0	0	0	0	12856	739	26	0	224	0	PYCR2	1	226108959	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	1620650	226108959	23141662	347	59480											
PSEN2	5664	broad.mit.edu	37	chr1	227076545	227076545	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagggaagtgctcaagacCtacaatgtggccatggacta	12	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:227076545C>A	uc009xeo.1	+	8	1009	c.582C>A	c.(580-582)ACC>ACA	p.T194T	PSEN2_uc009xep.1_Silent_p.T194T|PSEN2_uc001hqk.2_RNA	NM_000447	NP_000438	P49810	PSN2_HUMAN	presenilin 2 isoform 1	194	Lumenal (Potential).				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			lung(2)	2		Prostate(94;0.0771)				TGCTCAAGACCTACAATGTGG	0.582													A	227076545	C	A	227076545	2	1	94	1	0	0	0	0	0	0	0	1	12651	668	24	5		5	PSEN2	1	227076545	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	967586	227076545	22174076	348	59481											
C1orf35	79169	broad.mit.edu	37	chr1	228290076	228290076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacatcgccacgcggcccaCggagccactgcagggacatg	14	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:228290076C>T	uc001hrx.2	-	5	476	c.382G>A	c.(382-384)GTG>ATG	p.V128M	C1orf35_uc009xew.2_RNA	NM_024319	NP_077295	Q9BU76	MMTA2_HUMAN	hypothetical protein LOC79169	128											0		Prostate(94;0.0488)				ACGCGGCCCACGGAGCCACTG	0.687													T	228290076	C	T	228290076	3	4	94	1	0	0	0	0	1	0	0	0	2038	536	19	1	425	1	C1orf35	1	228290076	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1213531	228290076	20960545	349	59482											
C1orf69	200205	broad.mit.edu	37	chr1	228362618	228362618	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcctcatccgcgacccGcgaacagcacgcatggggtg	12	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:228362618G>A	uc001hsl.3	+	2	656	c.567G>A	c.(565-567)CCG>CCA	p.P189P	C1orf69_uc010pvw.1_5'UTR	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	hypothetical protein LOC200205 precursor	189					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity				0		Prostate(94;0.0405)				TCCGCGACCCGCGAACAGCAC	0.701													A	228362618	G	A	228362618	2	1	94	1	0	0	0	0	0	0	0	1	2057	1074	38	1		1	C1orf69	1	228362618	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	72542	228362618	20888003	350	59483											
OBSCN	84033	broad.mit.edu	37	chr1	228430986	228430986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggtggcccaggcccagaCggaggtgatgtggtacaaag	17	9	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:228430986C>T	uc009xez.1	+	10	3076	c.3032C>T	c.(3031-3033)ACG>ATG	p.T1011M	OBSCN_uc001hsn.2_Missense_Mutation_p.T1011M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1011	Ig-like 10.			T -> A (in Ref. 1; CAC44768).	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CAGGCCCAGACGGAGGTGATG	0.622													T	228430986	C	T	228430986	3	4	94	1	0	0	0	0	1	0	0	0	10812	536	19	1	3066	1	OBSCN	1	228430986	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	68368	228430986	20819635	351	59484											
OBSCN	84033	broad.mit.edu	37	chr1	228468439	228468439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtgagccctgaagacgcCggcctgtacacctgccacgt	12	15	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:228468439C>T	uc009xez.1	+	30	8183	c.8139C>T	c.(8137-8139)GCC>GCT	p.A2713A	OBSCN_uc001hsn.2_Silent_p.A2713A|OBSCN_uc001hsp.1_Silent_p.A412A|OBSCN_uc001hsq.1_5'UTR	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2713	Ig-like 26.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CTGAAGACGCCGGCCTGTACA	0.692													T	228468439	C	T	228468439	2	4	94	1	0	0	0	0	0	0	0	1	10812	639	23	1		1	OBSCN	1	228468439	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	37453	228468439	20782182	352	59485											
OBSCN	84033	broad.mit.edu	37	chr1	228469719	228469719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgagtgcgtcctgtcccaCgagagtgccagcgacccggc	13	14	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:228469719C>T	uc009xez.1	+	31	8327	c.8283C>T	c.(8281-8283)CAC>CAT	p.H2761H	OBSCN_uc001hsn.2_Silent_p.H2761H|OBSCN_uc001hsp.1_Silent_p.H460H|OBSCN_uc001hsq.1_Silent_p.H17H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2761	Ig-like 27.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TCCTGTCCCACGAGAGTGCCA	0.612													T	228469719	C	T	228469719	2	4	94	1	0	0	0	0	0	0	0	1	10812	535	19	1		1	OBSCN	1	228469719	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1280	228469719	20780902	353	59486											
OBSCN	84033	broad.mit.edu	37	chr1	228475464	228475464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtggtgctgccacactgcGctgtgtgctgtcatctgtgg	16	10	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:228475464G>A	uc009xez.1	+	36	9658	c.9614G>A	c.(9613-9615)CGC>CAC	p.R3205H	OBSCN_uc001hsn.2_Missense_Mutation_p.R3205H|OBSCN_uc001hsq.1_Missense_Mutation_p.R461H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3205	Ig-like 32.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCCACACTGCGCTGTGTGCTG	0.632													A	228475464	G	A	228475464	3	1	94	1	0	0	0	0	1	0	0	0	10812	1087	38	1	9752	1	OBSCN	1	228475464	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	5745	228475464	20775157	354	59487											
TRIM11	81559	broad.mit.edu	37	chr1	228582509	228582509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaggggccgcagcgtccccGagaaggggatctcgggaaag	18	10	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:228582509G>A	uc001hss.2	-	6	1559	c.1304C>T	c.(1303-1305)TCG>TTG	p.S435L	TRIM11_uc010pvx.1_Missense_Mutation_p.S434L	NM_145214	NP_660215	Q96F44	TRI11_HUMAN	tripartite motif-containing 11	435	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			lung(3)|ovary(1)	4		Prostate(94;0.0724)				CAGCGTCCCCGAGAAGGGGAT	0.627													A	228582509	G	A	228582509	3	1	94	1	0	0	0	0	1	0	0	0	16484	1059	37	1	106	1	TRIM11	1	228582509	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	107045	228582509	20668112	355	59488											
TRIM17	51127	broad.mit.edu	37	chr1	228596398	228596398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggtagcgcctctggcggCtctcatacaggaggaggtag	16	10	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:228596398C>T	uc001hsu.2	-	7	1323	c.938G>A	c.(937-939)AGC>AAC	p.S313N	TRIM11_uc001hss.2_5'Flank|TRIM11_uc010pvx.1_5'Flank|TRIM11_uc001hst.1_5'Flank|TRIM17_uc001hsv.2_Missense_Mutation_p.S313N|TRIM17_uc001hsw.2_Missense_Mutation_p.S286N	NM_016102	NP_057186	Q9Y577	TRI17_HUMAN	tripartite motif-containing 17 isoform 1	313	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Prostate(94;0.0724)				CCTCTGGCGGCTCTCATACAG	0.637													T	228596398	C	T	228596398	3	4	94	1	0	0	0	0	1	0	0	0	16490	797	28	2	499	2	TRIM17	1	228596398	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	13889	228596398	20654223	356	59489											
TAF5L	27097	broad.mit.edu	37	chr1	229738579	229738579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactttccactgtgctcttcGgactgttttggaccaggttg	10	10	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:229738579G>A	uc001htq.2	-	4	501	c.335C>T	c.(334-336)CCG>CTG	p.P112L	TAF5L_uc001htr.2_Missense_Mutation_p.P112L	NM_014409	NP_055224	O75529	TAF5L_HUMAN	PCAF associated factor 65 beta isoform a	112					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			ovary(1)	1	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TGTGCTCTTCGGACTGTTTTG	0.463													A	229738579	G	A	229738579	3	1	94	1	0	0	0	0	1	0	0	0	15526	1116	39	1	1448	1	TAF5L	1	229738579	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1142181	229738579	19512042	357	59490											
PGBD5	79605	broad.mit.edu	37	chr1	230492809	230492809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgacgagggcgaggctgCggttgctgtagaagcctccg	16	10	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:230492809C>T	uc010pwb.1	-	2	383	c.383G>A	c.(382-384)CGC>CAC	p.R128H	PGBD5_uc001htv.2_Missense_Mutation_p.R227H	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	128						integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GGCGAGGCTGCGGTTGCTGTA	0.617													T	230492809	C	T	230492809	3	4	94	1	0	0	0	0	1	0	0	0	11784	768	27	1	1008	1	PGBD5	1	230492809	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	754230	230492809	18757812	358	59491											
COG2	22796	broad.mit.edu	37	chr1	230827229	230827229	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaccactcccgccaacccCgtcggtcccagtggtggcat	9	17	0	0	rs137925176		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:230827229C>T	uc001htw.2	+	17	2185	c.2034C>T	c.(2032-2034)CCC>CCT	p.P678P	COG2_uc001htx.2_Silent_p.P677P|COG2_uc010pwc.1_Silent_p.P551P	NM_007357	NP_031383	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2 isoform	678					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CCGCCAACCCCGTCGGTCCCA	0.527													T	230827229	C	T	230827229	2	4	94	1	0	0	0	0	0	0	0	1	3658	639	23	1		1	COG2	1	230827229	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	334420	230827229	18423392	359	59492											
C1orf131	128061	broad.mit.edu	37	chr1	231362513	231362513	+	Frame_Shift_Del	DEL	T	T	-													tttcttcttcctttgctgccTttttttctttaatttgctcc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:231362512_231362512CT>C	uc001hul.3	-	4	703	c.666_666AG>G	c.(664-666)aagfs	p.K222fs	C1orf131_uc001hum.3_Frame_Shift_Del_p.K221fs|C1orf131_uc001hun.1_Frame_Shift_Del_p.K222fs|C1orf131_uc010pwd.1_Frame_Shift_Del_p.K221fs	NM_152379	NP_689592	Q8NDD1	CA131_HUMAN	Homo sapiens chromosome 1 open reading frame 131 (C1orf131), mRNA.	222	Lys-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CCTTTGCTGCCTTTTTTTCTT	0.373													-	231362513	T	-	231362513	7	5	94	1	0	1	0	1	0	0	0	0	1998	1609	56	0	228	0	C1orf131	1	231362513	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	535284	231362513	17888108	360	59493											
LYST	1130	broad.mit.edu	37	chr1	235969335	235969335	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagataataaatcttccttcAtagttctcttaggttgagaa	6	6	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:235969335A>G	uc001hxj.2	-	6	3276	c.3101T>C	c.(3100-3102)ATG>ACG	p.M1034T	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.M1034T	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	1034					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATCTTCCTTCATAGTTCTCTT	0.353									Chediak-Higashi_syndrome				G	235969335	A	G	235969335	3	3	94	1	0	0	0	0	1	0	0	0	9128	217	8	3	8496	3	LYST	1	235969335	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	4606822	235969335	13281286	361	59494											
LYST	1130	broad.mit.edu	37	chr1	235971775	235971775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggatttaagcaggataggCagagtttttacataaatctg	10	5	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:235971775C>T	uc001hxj.2	-	5	2518	c.2343G>A	c.(2341-2343)CTG>CTA	p.L781L	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.L781L	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	781					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GCAGGATAGGCAGAGTTTTTA	0.458									Chediak-Higashi_syndrome				T	235971775	C	T	235971775	2	4	94	1	0	0	0	0	0	0	0	1	9128	697	25	2		2	LYST	1	235971775	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2440	235971775	13278846	362	59495											
GPR137B	7107	broad.mit.edu	37	chr1	236306321	236306321	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccctcacgctgatgaaCttgtacttcacgcaggtgag	9	12	3	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:236306321C>A	uc001hxq.2	+	1	490	c.399C>A	c.(397-399)AAC>AAA	p.N133K		NM_003272	NP_003263	O60478	G137B_HUMAN	G protein-coupled receptor 137B	133	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction					0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CGCTGATGAACTTGTACTTCA	0.632													A	236306321	C	A	236306321	3	1	94	1	0	0	0	0	1	0	0	0	6646	564	20	5	401	5	GPR137B	1	236306321	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	334546	236306321	12944300	363	59496											
MTR	4548	broad.mit.edu	37	chr1	236987485	236987485	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgaaataattggaaaatgTacaacagcctatgtcctctg	7	7	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:236987485T>C	uc001hyi.3	+	9	1254	c.831T>C	c.(829-831)TGT>TGC	p.C277C	MTR_uc010pxw.1_5'UTR|MTR_uc010pxx.1_Silent_p.C277C|MTR_uc010pxy.1_Silent_p.C277C|MTR_uc009xgj.1_Intron	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	277	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TTGGAAAATGTACAACAGCCT	0.368													C	236987485	T	C	236987485	2	2	94	1	0	0	0	0	0	0	0	1	9958	1644	57	3		3	MTR	1	236987485	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	681164	236987485	12263136	364	59497											
RYR2	6262	broad.mit.edu	37	chr1	237617790	237617790	+	Frame_Shift_Del	DEL	C	C	-													gatctcattggctacttccaCcccccagatgagcatttaga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:237617790delC	uc001hyl.1	+	15	1512	c.1392delC	c.(1390-1392)CACfs	p.H464fs		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	464	Cytoplasmic (By similarity).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTACTTCCACCCCCCAGATG	0.493													-	237617790	C	-	237617790	7	5	94	1	0	1	0	1	0	0	0	0	13769	506	18	0	1450	0	RYR2	1	237617790	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	630305	237617790	11632831	365	59498											
RYR2	6262	broad.mit.edu	37	chr1	237837411	237837411	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttaggaggaggaaaccatcCtctgctggtgccctatgata	11	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:237837411C>A	uc001hyl.1	+	59	8726	c.8606C>A	c.(8605-8607)CCT>CAT	p.P2869H	RYR2_uc010pxz.1_5'Flank	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2869	Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.|4.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAAACCATCCTCTGCTGGTG	0.418													A	237837411	C	A	237837411	3	1	94	1	0	0	0	0	1	0	0	0	13769	681	24	5	8840	5	RYR2	1	237837411	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	219621	237837411	11413210	366	59499											
RYR2	6262	broad.mit.edu	37	chr1	237969570	237969570	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcttgtcctcagtaactcAcaatggcaaacaggtaaaca	6	11	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:237969570A>G	uc001hyl.1	+	99	14405	c.14285A>G	c.(14284-14286)CAC>CGC	p.H4762R	RYR2_uc010pyb.1_Missense_Mutation_p.H195R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4762					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAGTAACTCACAATGGCAAA	0.353													G	237969570	A	G	237969570	3	3	94	1	0	0	0	0	1	0	0	0	13769	159	6	3	14679	3	RYR2	1	237969570	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	132159	237969570	11281051	367	59500											
FMN2	56776	broad.mit.edu	37	chr1	240255470	240255470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctttgcacgaaggcggcGgtggcgccgaggatgcgctg	18	10	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:240255470G>A	uc010pyd.1	+	1	286	c.61G>A	c.(61-63)GGT>AGT	p.G21S	FMN2_uc010pye.1_Missense_Mutation_p.G21S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	21					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGAAGGCGGCGGTGGCGCCGA	0.667													A	240255470	G	A	240255470	3	1	94	1	0	0	0	0	1	0	0	0	5950	1116	39	1	63	1	FMN2	1	240255470	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2285900	240255470	8995151	368	59501											
FMN2	56776	broad.mit.edu	37	chr1	240257004	240257004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccccgcggctgcggatgGcttccagaacgtgttcacag	14	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:240257004G>A	uc010pyd.1	+	1	1820	c.1595G>A	c.(1594-1596)GGC>GAC	p.G532D	FMN2_uc010pye.1_Missense_Mutation_p.G532D	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	532					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCTGCGGATGGCTTCCAGAAC	0.726													A	240257004	G	A	240257004	3	1	94	1	0	0	0	0	1	0	0	0	5950	1203	42	2	1597	2	FMN2	1	240257004	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1534	240257004	8993617	369	59502											
KMO	8564	broad.mit.edu	37	chr1	241729893	241729893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagaaatactttccggatGccatccctctaattggagag	8	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:241729893G>A	uc009xgp.2	+	9	855	c.790G>A	c.(790-792)GCC>ACC	p.A264T	KMO_uc001hyy.2_Missense_Mutation_p.A264T|KMO_uc009xgo.1_Missense_Mutation_p.A264T	NM_003679	NP_003670	O15229	KMO_HUMAN	kynurenine 3-monooxygenase	264					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			ovary(2)	2	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			CTTTCCGGATGCCATCCCTCT	0.353													A	241729893	G	A	241729893	3	1	94	1	0	0	0	0	1	0	0	0	8424	1319	46	2	824	2	KMO	1	241729893	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1472889	241729893	7520728	370	59503											
ADSS	159	broad.mit.edu	37	chr1	244587345	244587345	+	Frame_Shift_Del	DEL	T	T	-													aataaactgggccaatgcccTtttttgttgtacccaaactt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:244587345delT	uc001iaj.2	-	6	785	c.491delA	c.(490-492)AAGfs	p.K164fs	ADSS_uc009xgr.1_RNA	NM_001126	NP_001117	P30520	PURA2_HUMAN	adenylosuccinate synthase	164					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(2)|kidney(1)	3	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	GCCAATGCCCTTTTTTGTTGT	0.418													-	244587345	T	-	244587345	7	5	94	1	0	1	0	1	0	0	0	0	347	1609	56	0	911	0	ADSS	1	244587345	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	2857452	244587345	4663276	371	59504											
KIF26B	55083	broad.mit.edu	37	chr1	245849096	245849096	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaggctggactgcatcgaCggcagcgaggagcccagcag	17	11	0	1	rs145851394	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:245849096C>T	uc001ibf.1	+	12	3251	c.2811C>T	c.(2809-2811)GAC>GAT	p.D937D	KIF26B_uc001ibg.1_Silent_p.D555D|KIF26B_uc001ibh.1_Silent_p.D179D	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	937					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACTGCATCGACGGCAGCGAGG	0.637													T	245849096	C	T	245849096	2	4	94	1	0	0	0	0	0	0	0	1	8295	535	19	1		1	KIF26B	1	245849096	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1261751	245849096	3401525	372	59505											
KIF26B	55083	broad.mit.edu	37	chr1	245849479	245849479	+	Frame_Shift_Del	DEL	C	C	-													caagcccaggcccatgggctCcccccggctgggcatcgcca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:245849478_245849478TC>T	uc001ibf.1	+	11	3633	c.3193_3193TC>T	c.(3193-3195)tccfs	p.S1065fs	KIF26B_uc001ibg.1_Frame_Shift_Del_p.S683fs|KIF26B_uc001ibh.1_Frame_Shift_Del_p.S307fs	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1065					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCCCATGGGCTCCCCCCGGCT	0.662													-	245849479	C	-	245849479	7	5	94	1	0	1	0	1	0	0	0	0	8295	855	30	0	3240	0	KIF26B	1	245849479	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	383	245849479	3401142	373	59506											
SCCPDH	51097	broad.mit.edu	37	chr1	246927597	246927597	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttggtcaaggatacagccAaggcactggtacagataaga	11	8	1	2	rs17856752		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:246927597A>G	uc001ibr.2	+	10	1387	c.1040A>G	c.(1039-1041)CAA>CGA	p.Q347R		NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	347				Q -> R (in Ref. 4; AAH26185).		midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			ovary(1)	1	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		GGATACAGCCAAGGCACTGGT	0.403													G	246927597	A	G	246927597	3	3	94	1	0	0	0	0	1	0	0	0	13885	130	5	3	1078	3	SCCPDH	1	246927597	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1078118	246927597	2323024	374	59507											
AHCTF1	25909	broad.mit.edu	37	chr1	247024358	247024358	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcaaggtcttccggtgaCggtgcatcctgatactctaa	9	11	4	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:247024358C>T	uc001ibu.1	-	28	3982	c.3975G>A	c.(3973-3975)CCG>CCA	p.P1325P	AHCTF1_uc001ibv.1_Silent_p.P1334P|AHCTF1_uc009xgs.1_Silent_p.P186P|AHCTF1_uc001ibw.1_RNA	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	1325	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTTCCGGTGACGGTGCATCCT	0.443													T	247024358	C	T	247024358	2	4	94	1	0	0	0	0	0	0	0	1	408	523	19	1		1	AHCTF1	1	247024358	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	96761	247024358	2226263	375	59508											
NLRP3	114548	broad.mit.edu	37	chr1	247587978	247587978	+	Frame_Shift_Del	DEL	C	C	-													ctcttcaccatgtgcttcatCcccctggtctgctggatcgt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:247587977_247587977TC>T	uc001icr.3	+	4	1370	c.1232_1232TC>T	c.(1231-1233)atcfs	p.I411fs	NLRP3_uc001ics.3_Frame_Shift_Del_p.I411fs|NLRP3_uc001icu.3_Frame_Shift_Del_p.I411fs|NLRP3_uc001icw.3_Frame_Shift_Del_p.I411fs|NLRP3_uc001icv.3_Frame_Shift_Del_p.I411fs|NLRP3_uc010pyw.2_Frame_Shift_Del_p.I409fs|NLRP3_uc001ict.1_Frame_Shift_Del_p.I409fs	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	411	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATGTGCTTCATCCCCCTGGTC	0.547													-	247587978	C	-	247587978	7	5	94	1	0	1	0	1	0	0	0	0	10478	845	30	0	1243	0	NLRP3	1	247587978	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	563620	247587978	1662643	376	59509											
OR2C3	81472	broad.mit.edu	37	chr1	247694926	247694926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagggcgctcttcacctcCgtgttcctcagggtgtaaat	12	12	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:247694926C>T	uc009xgy.2	-	2	1250	c.888G>A	c.(886-888)ACG>ACA	p.T296T	C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TCTTCACCTCCGTGTTCCTCA	0.542													T	247694926	C	T	247694926	2	4	94	1	0	0	0	0	0	0	0	1	10993	639	23	1		1	OR2C3	1	247694926	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	106948	247694926	1555695	377	59510											
C1orf150	148823	broad.mit.edu	37	chr1	247737543	247737543	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctccaatgatgatggctaTgagaacattgactccctcac	8	11	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:247737543T>C	uc001idf.2	+	5	312	c.267T>C	c.(265-267)TAT>TAC	p.Y89Y	C1orf150_uc009xgw.2_RNA|C1orf150_uc001ida.3_RNA|C1orf150_uc001idb.3_RNA|C1orf150_uc009xgx.2_RNA	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	hypothetical protein LOC148823	89											0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			ATGATGGCTATGAGAACATTG	0.453													C	247737543	T	C	247737543	2	2	94	1	0	0	0	0	0	0	0	1	2004	1471	51	3		3	C1orf150	1	247737543	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	42617	247737543	1513078	378	59511											
OR2L2	26246	broad.mit.edu	37	chr1	248202060	248202060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacacagtatatgcactctGtatcccatattgcaagtcca	5	12	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:248202060G>A	uc001idw.2	+	1	587	c.491G>A	c.(490-492)TGT>TAT	p.C164Y	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	164	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TATGCACTCTGTATCCCATAT	0.428													A	248202060	G	A	248202060	3	1	94	1	0	0	0	0	1	0	0	0	11007	1377	48	4	493	4	OR2L2	1	248202060	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	464517	248202060	1048561	379	59512											
OR2L2	26246	broad.mit.edu	37	chr1	248202128	248202128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagctatgttgacgctaGcctgcacagacacttgggtc	10	12	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:248202128G>A	uc001idw.2	+	1	655	c.559G>A	c.(559-561)GCC>ACC	p.A187T	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GTTGACGCTAGCCTGCACAGA	0.458													A	248202128	G	A	248202128	3	1	94	1	0	0	0	0	1	0	0	0	11007	971	34	2	561	2	OR2L2	1	248202128	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	68	248202128	1048493	380	59513											
OR2T11	127077	broad.mit.edu	37	chr1	248790058	248790058	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgggtatctcagagggttAcagacagccacgtagcagtc	12	10	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:248790058A>G	uc001ier.1	-	1	372	c.372T>C	c.(370-372)TGT>TGC	p.C124C		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGAGGGTTACAGACAGCCA	0.547													G	248790058	A	G	248790058	2	3	94	1	0	0	0	0	0	0	0	1	11018	389	14	3		3	OR2T11	1	248790058	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	587930	248790058	460563	381	59514											
SH3BP5L	80851	broad.mit.edu	37	chr1	249106189	249106189	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgttcccagctcttggccGtccagactgacgtggtccga	12	15	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:249106189G>A	uc001iew.1	-	7	1644	c.1092C>T	c.(1090-1092)GAC>GAT	p.D364D	SH3BP5L_uc010pzp.1_Silent_p.D257D|SH3BP5L_uc010pzq.1_Silent_p.D332D|SH3BP5L_uc001iev.1_Silent_p.D245D	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	364											0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCTCTTGGCCGTCCAGACTGA	0.697													A	249106189	G	A	249106189	2	1	94	1	0	0	0	0	0	0	0	1	14248	1136	40	1		1	SH3BP5L	1	249106189	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	316131	249106189	144432	382	59515											
ZNF692	55657	broad.mit.edu	37	chr1	249149644	249149645	+	Frame_Shift_Del	DEL	TT	TT	-													gtcacaaggcatcagctctcTtttggcagctttcctgagga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:249149644_249149645delTT	uc001ifc.1	-	9	1139_1140	c.972_973delAA	c.(970-975)AAAAGAfs	p.K324fs	ZNF692_uc001iez.1_Frame_Shift_Del_p.K46fs|ZNF692_uc001ifa.1_Frame_Shift_Del_p.K46fs|ZNF692_uc001ifb.1_Frame_Shift_Del_p.K120fs|ZNF692_uc001ifd.1_Frame_Shift_Del_p.K323fs|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Frame_Shift_Del_p.K279fs|ZNF692_uc010pzr.1_Frame_Shift_Del_p.K329fs	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	zinc finger protein 692 isoform 2	324_325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			ATCAGCTCTCTTTTGGCAGCTT	0.579													-	249149645	TT	-	249149644	7	5	94	1	0	1	0	1	0	0	0	0	18094	1617	56	0	602	0	ZNF692	1	249149644	Frame_Shift_Del	DEL	TT	TCGA-BR-8487-01A-11D-2394-08	43455	249149644	100977	383	59516											
KIDINS220	57498	broad.mit.edu	37	chr2	8919228	8919228	+	Frame_Shift_Del	DEL	A	A	-													ataatatgtggatcacttgcAaaaatggcaatgaacgggcc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:8919228delA	uc002qzc.2	-	19	2594	c.2412delT	c.(2410-2412)TTTfs	p.F804fs	KIDINS220_uc010yiv.1_Frame_Shift_Del_p.F570fs|KIDINS220_uc002qzd.2_Frame_Shift_Del_p.F762fs|KIDINS220_uc010yiw.1_Frame_Shift_Del_p.F805fs	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	804	KAP NTPase.|Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GATCACTTGCAAAAATGGCAA	0.383													-	8919228	A	-	8919228	7	5	94	1	0	1	0	1	0	0	0	0	8271	127	5	0	2951	0	KIDINS220	2	8919228	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08		8919228	234280145	384	59517											
KIDINS220	57498	broad.mit.edu	37	chr2	8943209	8943209	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaaatttcttttactgActgtgtgtaacctcctttca	4	10	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:8943209A>G	uc002qzc.2	-	8	834	c.652T>C	c.(652-654)TCA>CCA	p.S218P	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.S176P|KIDINS220_uc010yiw.1_Missense_Mutation_p.S219P	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	218	ANK 7.|Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTTTTACTGACTGTGTGTAA	0.343													G	8943209	A	G	8943209	3	3	94	1	0	0	0	0	1	0	0	0	8271	275	10	3	4755	3	KIDINS220	2	8943209	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	23981	8943209	234256164	385	59518											
ASAP2	8853	broad.mit.edu	37	chr2	9437478	9437478	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctctggagaagtttggCggcaactgtgtatgcagaga	15	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:9437478C>T	uc002qzh.2	+	3	589	c.249C>T	c.(247-249)GGC>GGT	p.G83G	ASAP2_uc002qzi.2_Silent_p.G83G	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	83					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						AGAAGTTTGGCGGCAACTGTG	0.488													T	9437478	C	T	9437478	2	4	94	1	0	0	0	0	0	0	0	1	1011	755	27	1		1	ASAP2	2	9437478	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	494269	9437478	233761895	386	59519											
GRHL1	29841	broad.mit.edu	37	chr2	10140800	10140801	+	Frame_Shift_Ins	INS	-	-	G													gctgcagattgaagaagccgINSgggggtcttacaagctcacc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:10140799_10140800C>CG	uc002raa.3	+	15	1992_1993	c.1821_1822C>CG	c.(1819-1824)gccgggfs	p.A607fs	GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_Frame_Shift_Ins_p.A418fs|GRHL1_uc010yjb.2_Frame_Shift_Ins_p.A456fs	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.	607					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	p.G419W(1)|p.G608W(1)|p.S421fs*6(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TTGAAGAAGCCGGGGGGTCTTA	0.545													G	10140801	-	G	10140800	7	5	94	1	0	1	1	0	0	0	0	0	6763	1116	39	0	1884	0	GRHL1	2	10140800	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	703322	10140800	233058573	387	59520											
ODC1	4953	broad.mit.edu	37	chr2	10581970	10581970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggggctttacatgtgcGtggtcatagagtatgcaatt	13	5	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:10581970G>A	uc010exg.1	-	10	1433	c.999C>T	c.(997-999)CAC>CAT	p.H333H	ODC1_uc002ran.1_Silent_p.H19H|ODC1_uc002rao.1_Silent_p.H333H|ODC1_uc010yjd.1_Silent_p.H203H	NM_002539	NP_002530	P11926	DCOR_HUMAN	ornithine decarboxylase 1	333					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	TTACATGTGCGTGGTCATAGA	0.393													A	10581970	G	A	10581970	2	1	94	1	0	0	0	0	0	0	0	1	10825	1136	40	1		1	ODC1	2	10581970	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	441170	10581970	232617403	388	59521											
WDR35	57539	broad.mit.edu	37	chr2	20188933	20188933	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcattcatttacctgtctgCgtctctaatttcaaaacttt	4	10	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:20188933C>T	uc002rdi.2	-	2	243	c.135G>A	c.(133-135)ACG>ACA	p.T45T	WDR35_uc002rdj.2_Silent_p.T45T|WDR35_uc010ext.2_RNA	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	45	WD 1.									ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACCTGTCTGCGTCTCTAATT	0.413													T	20188933	C	T	20188933	2	4	94	1	0	0	0	0	0	0	0	1	17286	755	27	1		1	WDR35	2	20188933	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	9606963	20188933	223010440	389	59522											
HS1BP3	64342	broad.mit.edu	37	chr2	20824508	20824508	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacggtccacggatgacacGtcctccgaggggtcctgtgg	14	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:20824508G>A	uc002rdw.1	-	5	809	c.768C>T	c.(766-768)GAC>GAT	p.D256D		NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	256					cell communication		phosphatidylinositol binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGATGACACGTCCTCCGAGG	0.657													A	20824508	G	A	20824508	2	1	94	1	0	0	0	0	0	0	0	1	7361	1136	40	1		1	HS1BP3	2	20824508	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	635575	20824508	222374865	390	59523											
HS1BP3	64342	broad.mit.edu	37	chr2	20840864	20840864	+	Frame_Shift_Del	DEL	G	G	-													acaggaccttcctgggtagtGgggggaggctggctgctgca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:20840863_20840863TG>T	uc002rdw.1	-	2	317	c.276_276CA>A	c.(274-276)ccafs	p.P92fs	HS1BP3_uc002rdx.3_Frame_Shift_Del_p.P92fs|HS1BP3_uc002rdy.3_Frame_Shift_Del_p.P92fs	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	Homo sapiens HCLS1 binding protein 3 (HS1BP3), mRNA.	92	PX.				cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTGGGTAGTGGGGGGAGGC	0.542													-	20840864	G	-	20840864	7	5	94	1	0	1	0	1	0	0	0	0	7361	1348	47	0	923	0	HS1BP3	2	20840864	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	16356	20840864	222358509	391	59524											
APOB	338	broad.mit.edu	37	chr2	21234835	21234835	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgagcaccactattaatTttgtcagtgcctaagatgtc	8	8	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:21234835T>G	uc002red.2	-	26	5033	c.4905A>C	c.(4903-4905)AAA>AAC	p.K1635N		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1635					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CACTATTAATTTTGTCAGTGC	0.448													G	21234835	T	G	21234835	3	3	94	1	0	0	0	0	1	0	0	0	785	1838	64	5	8802	5	APOB	2	21234835	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	393971	21234835	221964538	392	59525											
APOB	338	broad.mit.edu	37	chr2	21255259	21255259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcagcgcatacaaggtgGctcggctgcgctgatccctc	13	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:21255259G>A	uc002red.2	-	10	1447	c.1319C>T	c.(1318-1320)GCC>GTC	p.A440V		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	440	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATACAAGGTGGCTCGGCTGCG	0.567													A	21255259	G	A	21255259	3	1	94	1	0	0	0	0	1	0	0	0	785	1203	42	2	12452	2	APOB	2	21255259	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	20424	21255259	221944114	393	59526											
ITSN2	50618	broad.mit.edu	37	chr2	24494710	24494710	+	Frame_Shift_Del	DEL	T	T	-													tttccgttcctcttcttgaaTtttttcttgtgttttttctt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:24494710delT	uc002rfe.2	-	19	2440	c.2182delA	c.(2182-2184)ATTfs	p.I728fs	ITSN2_uc002rff.2_Frame_Shift_Del_p.I701fs|ITSN2_uc002rfg.2_Frame_Shift_Del_p.I728fs	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	728	Potential.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					tcttcttgaattttttcttgt	0.03													-	24494710	T	-	24494710	7	5	94	1	0	1	0	1	0	0	0	0	7927	1493	52	0	3050	0	ITSN2	2	24494710	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	3239451	24494710	218704663	394	59527											
POMC	5443	broad.mit.edu	37	chr2	25384367	25384367	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccctcgcgcgggcccggCttggcaccatcgctgcgggg	16	16	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:25384367C>T	uc002rfy.1	-	4	650	c.387G>A	c.(385-387)AAG>AAA	p.K129K	POMC_uc002rfz.1_Silent_p.K129K|POMC_uc002rga.1_Silent_p.K129K	NM_001035256	NP_001030333	P01189	COLI_HUMAN	proopiomelanocortin preproprotein	129					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	GCGGGCCCGGCTTGGCACCAT	0.677													T	25384367	C	T	25384367	2	4	94	1	0	0	0	0	0	0	0	1	12242	796	28	2		2	POMC	2	25384367	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	889657	25384367	217815006	395	59528											
ASXL2	55252	broad.mit.edu	37	chr2	25965028	25965028	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttcgaaggcgtgccctctAtgctgttctcttcggagaac	10	11	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:25965028A>G	uc002rgs.2	-	12	4399	c.4178T>C	c.(4177-4179)ATA>ACA	p.I1393T	ASXL2_uc002rgt.1_Missense_Mutation_p.I876T	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	1393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGCCCTCTATGCTGTTCTC	0.522													G	25965028	A	G	25965028	3	3	94	1	0	0	0	0	1	0	0	0	1067	449	16	3	133	3	ASXL2	2	25965028	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	580661	25965028	217234345	396	59529											
C2orf39	92749	broad.mit.edu	37	chr2	26654771	26654771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggagtatcttaacaaccGcatgaagaaagtagaggact	11	7	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:26654771G>A	uc002rhg.2	+	7	859	c.785G>A	c.(784-786)CGC>CAC	p.R262H	C2orf39_uc010eym.1_RNA	NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	262	Potential.										0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTAACAACCGCATGAAGAAA	0.493													A	26654771	G	A	26654771	3	1	94	1	0	0	0	0	1	0	0	0	2164	1087	38	1	811	1	C2orf39	2	26654771	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	689743	26654771	216544602	397	59530											
KCNK3	3777	broad.mit.edu	37	chr2	26950678	26950678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtacctgctgcaccgcGccaagaaggggctgggcatg	16	11	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:26950678G>A	uc002rhn.2	+	2	590	c.427G>A	c.(427-429)GCC>ACC	p.A143T		NM_002246	NP_002237	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	143	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCACCGCGCCAAGAAGGG	0.647													A	26950678	G	A	26950678	3	1	94	1	0	0	0	0	1	0	0	0	8067	1087	38	1	433	1	KCNK3	2	26950678	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	295907	26950678	216248695	398	59531											
C2orf18	54978	broad.mit.edu	37	chr2	26999331	26999331	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacacaatgtgcacccactGcgggcagttggcactgaggg	13	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:26999331G>A	uc002rhp.1	+	5	703	c.627G>A	c.(625-627)CTG>CTA	p.L209L	C2orf18_uc002rhq.1_Silent_p.L126L|C2orf18_uc010eyo.1_Silent_p.L156L|C2orf18_uc010ylc.1_Intron	NM_017877	NP_060347	Q8N357	CB018_HUMAN	ANT2-binding protein precursor	209						integral to membrane|lysosomal membrane					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCACCCACTGCGGGCAGTTG	0.587													A	26999331	G	A	26999331	2	1	94	1	0	0	0	0	0	0	0	1	2158	1306	46	2		2	C2orf18	2	26999331	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	48653	26999331	216200042	399	59532											
DPYSL5	56896	broad.mit.edu	37	chr2	27121383	27121383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacatgcttgccaactcaGccagcgtgaggatcctcatc	10	13	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:27121383G>A	uc002rhu.3	+	2	174	c.16G>A	c.(16-18)GCC>ACC	p.A6T	DPYSL5_uc002rhv.3_Missense_Mutation_p.A6T	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	6					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCAACTCAGCCAGCGTGAG	0.527													A	27121383	G	A	27121383	3	1	94	1	0	0	0	0	1	0	0	0	4750	971	34	2	18	2	DPYSL5	2	27121383	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	122052	27121383	216077990	400	59533											
DPYSL5	56896	broad.mit.edu	37	chr2	27169837	27169837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggatcctcgctcctcccGgaggcaggtcgagtggcatt	13	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:27169837G>A	uc002rhu.3	+	13	1827	c.1669G>A	c.(1669-1671)GGA>AGA	p.G557R	DPYSL5_uc002rhv.3_Missense_Mutation_p.G557R	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	557					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCTCCTCCCGGAGGCAGGTC	0.627													A	27169837	G	A	27169837	3	1	94	1	0	0	0	0	1	0	0	0	4750	1117	39	1	1715	1	DPYSL5	2	27169837	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	48454	27169837	216029536	401	59534											
SLC5A6	8884	broad.mit.edu	37	chr2	27428246	27428246	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagatgcggccgtgctgggAagccacggcccacacacgcc	14	15	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:27428246A>G	uc002rjd.2	-	7	1097	c.706T>C	c.(706-708)TCC>CCC	p.S236P	SLC5A6_uc010eyv.1_Missense_Mutation_p.S236P	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	236					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CCGTGCTGGGAAGCCACGGCC	0.612													G	27428246	A	G	27428246	3	3	94	1	0	0	0	0	1	0	0	0	14669	246	9	3	1245	3	SLC5A6	2	27428246	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	258409	27428246	215771127	402	59535											
IFT172	26160	broad.mit.edu	37	chr2	27676932	27676932	+	Frame_Shift_Del	DEL	C	C	-													aaagtccttctcctccaaggCcccccgggcctgtcccacaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:27676931_27676931GC>G	uc002rku.3	-	32	3680	c.3629_3629GC>C	c.(3628-3630)gccfs	p.A1210fs	IFT172_uc010ezb.3_Non-coding_Transcript	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	1210					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTCCTCCAAGGCCCCCCGGGC	0.607													-	27676932	C	-	27676932	7	5	94	1	0	1	0	1	0	0	0	0	7557	739	26	0	1685	0	IFT172	2	27676932	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	248686	27676932	215522441	403	59536											
ZNF512	84450	broad.mit.edu	37	chr2	27844169	27844169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctggcattgagcttccCgagacagagctgagtcttag	12	11	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:27844169C>T	uc002rla.2	+	14	1632	c.1545C>T	c.(1543-1545)CCC>CCT	p.P515P	ZNF512_uc010ylv.1_Silent_p.P436P|ZNF512_uc010ylw.1_Silent_p.P486P|ZNF512_uc002rlb.2_Silent_p.P436P|ZNF512_uc010ylx.1_Silent_p.P436P|ZNF512_uc002rlc.2_Silent_p.P436P|ZNF512_uc010yly.1_Intron|ZNF512_uc010ylz.1_Silent_p.P408P	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	zinc finger protein 512	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					TTGAGCTTCCCGAGACAGAGC	0.537													T	27844169	C	T	27844169	2	4	94	1	0	0	0	0	0	0	0	1	17953	639	23	1		1	ZNF512	2	27844169	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	167237	27844169	215355204	404	59537											
C2orf71	388939	broad.mit.edu	37	chr2	29294038	29294038	+	Frame_Shift_Del	DEL	G	G	-													ctggggctcacaggtgggctGgggggcgtctgcacagcaga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:29294037_29294037TG>T	uc002rmt.2	-	0	3091	c.3091_3091CA>A	c.(3091-3093)agcfs	p.S1031fs		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	1031	Pro-rich.				response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ACAGGTGGGCTGGGGGGCGTC	0.667													-	29294038	G	-	29294038	7	5	94	1	0	1	0	1	0	0	0	0	2191	1335	47	0	784	0	C2orf71	2	29294038	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	1449869	29294038	213905335	405	59538											
GALNT14	79623	broad.mit.edu	37	chr2	31167736	31167736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacttacctgatgggctccGtggggtccaggcgccgagcc	14	15	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:31167736G>A	uc002rnr.2	-	8	1434	c.815C>T	c.(814-816)ACG>ATG	p.T272M	GALNT14_uc002rnq.2_Missense_Mutation_p.T252M|GALNT14_uc002rns.2_Missense_Mutation_p.T277M|GALNT14_uc010ymr.1_Missense_Mutation_p.T237M|GALNT14_uc010ezo.1_Missense_Mutation_p.T239M|GALNT14_uc010ezp.1_Intron	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	272	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					GATGGGCTCCGTGGGGTCCAG	0.582													A	31167736	G	A	31167736	3	1	94	1	0	0	0	0	1	0	0	0	6212	1145	40	1	875	1	GALNT14	2	31167736	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1873698	31167736	212031637	406	59539											
BIRC6	57448	broad.mit.edu	37	chr2	32704595	32704595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgggtgatgatgtaggtGcgacagctggtgactctgat	16	6	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:32704595G>A	uc010ezu.2	+	37	7452	c.7318G>A	c.(7318-7320)GCG>ACG	p.A2440T		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2440					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TGATGTAGGTGCGACAGCTGG	0.443													A	32704595	G	A	32704595	3	1	94	1	0	0	0	0	1	0	0	0	1438	1319	46	2	7464	2	BIRC6	2	32704595	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1536859	32704595	210494778	407	59540											
TTC27	55622	broad.mit.edu	37	chr2	32859010	32859010	+	Frame_Shift_Del	DEL	C	C	-													ttcagagcaactggacggggCcccctgttgacttacaccct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:32859009_32859009GC>G	uc002rom.3	+	2	606	c.333_333GC>G	c.(331-333)gggfs	p.G111fs	TTC27_uc010ymx.2_Frame_Shift_Del_p.G61fs|MIR4765_uc021vfs.1_5'Flank	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	111							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						ACTGGACGGGGCCCCCTGTTG	0.368													-	32859010	C	-	32859010	7	5	94	1	0	1	0	1	0	0	0	0	16692	739	26	0	344	0	TTC27	2	32859010	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	154415	32859010	210340363	408	59541											
TTC27	55622	broad.mit.edu	37	chr2	32865440	32865440	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgttattagcacgcattaTcctagtgaatgtaagacata	7	7	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:32865440T>C	uc002rom.2	+	4	731	c.500T>C	c.(499-501)ATC>ACC	p.I167T	TTC27_uc010ymx.1_Missense_Mutation_p.I117T	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	167							protein binding			central_nervous_system(1)	1						GCACGCATTATCCTAGTGAAT	0.418													C	32865440	T	C	32865440	3	2	94	1	0	0	0	0	1	0	0	0	16692	1435	50	3	514	3	TTC27	2	32865440	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	6430	32865440	210333933	409	59542											
TTC27	55622	broad.mit.edu	37	chr2	32889536	32889536	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacaaattgatttgacaggTaagacttattttttgtggat	8	3	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:32889536T>C	uc002rom.2	+	6	1036	c.805_splice	c.e6+2	p.G269_splice	TTC27_uc010ymx.1_Splice_Site_p.G219_splice	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27								protein binding			central_nervous_system(1)	1						ATTTGACAGGTAAGACTTATT	0.264													C	32889536	T	C	32889536	5	2	94	1	0	0	0	0	0	0	1	0	16692	1652	57	3	829	3	TTC27	2	32889536	Splice_Site	SNP	T	TCGA-BR-8487-01A-11D-2394-08	24096	32889536	210309837	410	59543											
VIT	5212	broad.mit.edu	37	chr2	37035867	37035867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatttccgacacggacacgCgcatcggggccgtgcagtac	13	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:37035867C>T	uc002rpl.2	+	15	1863	c.1642C>T	c.(1642-1644)CGC>TGC	p.R548C	VIT_uc002rpm.2_Missense_Mutation_p.R526C|VIT_uc010ezv.2_Missense_Mutation_p.R504C|VIT_uc010ezw.2_Missense_Mutation_p.R505C	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	533	VWFA 2.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				CACGGACACGCGCATCGGGGC	0.587													T	37035867	C	T	37035867	3	4	94	1	0	0	0	0	1	0	0	0	17168	768	27	1	1821	1	VIT	2	37035867	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4146331	37035867	206163506	411	59544											
HEATR5B	54497	broad.mit.edu	37	chr2	37267563	37267563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaaggcggaactgtcaaCagcaaggtaagaactagaga	13	6	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:37267563C>T	uc002rpp.1	-	20	3051	c.2955G>A	c.(2953-2955)CTG>CTA	p.L985L		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	985							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				GAACTGTCAACAGCAAGGTAA	0.428													T	37267563	C	T	37267563	2	4	94	1	0	0	0	0	0	0	0	1	7032	465	17	4		4	HEATR5B	2	37267563	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	231696	37267563	205931810	412	59545											
CDKL4	344387	broad.mit.edu	37	chr2	39440547	39440547	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgttacttacgttatgTatatgacagaaattaagagc	7	4	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:39440547T>C	uc002rrm.2	-	3	357	c.357A>G	c.(355-357)ATA>ATG	p.I119M	CDKL4_uc010fal.1_Missense_Mutation_p.I119M	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	119	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			ovary(1)	1		all_hematologic(82;0.248)				TTACGTTATGTATATGACAGA	0.323													C	39440547	T	C	39440547	3	2	94	1	0	0	0	0	1	0	0	0	3156	1628	57	3	614	3	CDKL4	2	39440547	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2172984	39440547	203758826	413	59546											
OXER1	165140	broad.mit.edu	37	chr2	42991089	42991090	+	Frame_Shift_Ins	INS	-	-	C													ggcagggccctccagaggacINSccccccacagtggtaaaggc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:42991088_42991089A>AC	uc002rss.3	-	0	313_314	c.231_232T>GT	c.(229-234)gggtccfs	p.G77fs		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.	77	Ser-rich.				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	p.S78fs*61(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						CCTCCAGAGGACCCCCCCACAG	0.634													C	42991090	-	C	42991089	7	5	94	1	0	1	1	0	0	0	0	0	11331	494	18	0	1044	0	OXER1	2	42991089	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	3550542	42991089	200208284	414	59547											
ZFP36L2	678	broad.mit.edu	37	chr2	43452855	43452855	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccgccttcttgtccagcaTgttgttcaggttgaggttgg	12	10	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:43452855T>C	uc002rsv.3	-	2	379	c.88A>G	c.(88-90)ATG>GTG	p.M30V	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	zinc finger protein 36, C3H type-like 2	30					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TTGTCCAGCATGTTGTTCAGG	0.647													C	43452855	T	C	43452855	3	2	94	1	0	0	0	0	1	0	0	0	17644	1464	51	3	1400	3	ZFP36L2	2	43452855	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	461766	43452855	199746518	415	59548											
PREPL	9581	broad.mit.edu	37	chr2	44550553	44550553	+	Splice_Site	DEL	A	A	-													aacatccaagaaaggtgcctAaaaaaaaggcaaagaaactt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:44550552_44550552TA>T	uc002ruf.3	-	11	2706	c.1747_splice	c.e11-1	p.A583_splice	PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	583					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAAAGGTGCCTAAAAAAAAGG	0.333													-	44550553	A	-	44550553	8	5	94	1	0	1	0	1	0	0	1	0	12475	377	13	0		0	PREPL	2	44550553	Splice_Site	DEL	A	TCGA-BR-8487-01A-11D-2394-08	1097698	44550553	198648820	416	59549											
SIX3	6496	broad.mit.edu	37	chr2	45170049	45170049	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccgcggcggccaagaacaGgttagtggcggggcccgcgg	19	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:45170049G>T	uc002run.1	+	1	1013	c.806G>T	c.(805-807)AGG>ATG	p.R269M		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	269					visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCCAAGAACAGGTTAGTGGCG	0.682													T	45170049	G	T	45170049	3	4	94	1	0	0	0	0	1	0	0	0	14348	1014	35	5	808	5	SIX3	2	45170049	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	619496	45170049	198029324	417	59550											
PRKCE	5581	broad.mit.edu	37	chr2	46228616	46228616	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagtggatgccagaggaatCgccaaagtactggccgacct	14	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:46228616C>T	uc002rut.2	+	7	1094	c.897C>T	c.(895-897)ATC>ATT	p.I299I		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	299					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CCAGAGGAATCGCCAAAGTAC	0.522													T	46228616	C	T	46228616	2	4	94	1	0	0	0	0	0	0	0	1	12511	874	31	1		1	PRKCE	2	46228616	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1058567	46228616	196970757	418	59551											
RHOQ	23433	broad.mit.edu	37	chr2	46808174	46808174	+	Frame_Shift_Del	DEL	A	A	-													actccaaagaaacacactgtAaaaaaaagaataggatcaag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:46808173_46808173TA>T	uc002rva.3	+	4	888	c.569_569TA>T	c.(568-570)gtafs	p.V190fs	BC048424_uc002rvb.3_5'Flank	NM_012249	NP_036381	P17081	RHOQ_HUMAN	Homo sapiens ras homolog gene family, member Q (RHOQ), mRNA.	190					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAACACACTGTAAAAAAAAGA	0.368													-	46808174	A	-	46808174	7	5	94	1	0	1	0	1	0	0	0	0	13342	349	13	0	588	0	RHOQ	2	46808174	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	579558	46808174	196391199	419	59552											
NRXN1	9378	broad.mit.edu	37	chr2	50779787	50779787	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcattcactttcttcaacAgggcttttatttttatagta	4	8	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:50779787A>G	uc010fbq.2	-	9	3294	c.1817T>C	c.(1816-1818)CTG>CCG	p.L606P	NRXN1_uc002rxb.3_Missense_Mutation_p.L238P|NRXN1_uc002rxe.3_Missense_Mutation_p.L566P|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTTCTTCAACAGGGCTTTTAT	0.433													G	50779787	A	G	50779787	3	3	94	1	0	0	0	0	1	0	0	0	10665	188	7	3	3149	3	NRXN1	2	50779787	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	3971613	50779787	192419586	420	59553											
CHAC2	494143	broad.mit.edu	37	chr2	53999066	53999066	+	Missense_Mutation	SNP	T	T	G													tggaagagttgtgactcttgTtgaagatcctgcggtatggt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:53999066T>G	uc002rxk.1	+	2	253	c.158T>G	c.(157-159)GTT>GGT	p.V53G	ASB3_uc002rxg.1_Intron|ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_Intron	NM_001008708	NP_001008708	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator-like 2	53											0			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTGACTCTTGTTGAAGATCCT	0.259													G	53999066	T	G	53999066	3	3	94	1	0	0	0	0	1	0	0	0	3309	1725	60	5	164	5	CHAC2	2	53999066	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	3219279	53999066	189200307	421	59554	265	2									
CHAC2	494143	broad.mit.edu	37	chr2	53999076	53999076	+	Silent	SNP	T	T	A													gtgactcttgttgaagatccTgcggtatggtataaatattc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:53999076T>A	uc002rxk.1	+	2	263	c.168T>A	c.(166-168)CCT>CCA	p.P56P	ASB3_uc002rxg.1_Intron|ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_Intron	NM_001008708	NP_001008708	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator-like 2	56											0			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTGAAGATCCTGCGGTATGGt	0.264													A	53999076	T	A	53999076	2	1	94	1	0	0	0	0	0	0	0	1	3309	1567	55	5		5	CHAC2	2	53999076	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	10	53999076	189200297	422	59555	265	2									
ERLEC1	27248	broad.mit.edu	37	chr2	54041678	54041678	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgtgtttctctgattcAggatggtgtcacatttttat	9	6	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:54041678A>G	uc002rxl.2	+	12	1507	c.1227_splice	c.e12-2	p.R409_splice	ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Intron|ERLEC1_uc002rxn.2_Splice_Site_p.R355_splice	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	erlectin isoform 1						ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			ovary(2)	2						TCTCTGATTCAGGATGGTGTC	0.333													G	54041678	A	G	54041678	5	3	94	1	0	0	0	0	0	0	1	0	5231	202	7	3	1271	3	ERLEC1	2	54041678	Splice_Site	SNP	A	TCGA-BR-8487-01A-11D-2394-08	42602	54041678	189157695	423	59556											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	94	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-BR-8487-01A-11D-2394-08	125462	54167140	189032233	424	59557											
SPTBN1	6711	broad.mit.edu	37	chr2	54853120	54853120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggccgccacaaaaaagcacGaggccattgagacagacatt	10	11	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:54853120G>A	uc002rxu.2	+	12	1642	c.1393G>A	c.(1393-1395)GAG>AAG	p.E465K	SPTBN1_uc002rxv.1_Missense_Mutation_p.E465K|SPTBN1_uc002rxx.2_Missense_Mutation_p.E452K	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	465	Spectrin 2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			AAAAAAGCACGAGGCCATTGA	0.502													A	54853120	G	A	54853120	3	1	94	1	0	0	0	0	1	0	0	0	15118	1059	37	1	1548	1	SPTBN1	2	54853120	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	685980	54853120	188346253	425	59558											
SPTBN1	6711	broad.mit.edu	37	chr2	54858335	54858335	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggaggagatgaagaccaccCtgaaaaaccgagaggcctcc	13	11	0	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:54858335C>A	uc002rxu.2	+	16	3400	c.3151C>A	c.(3151-3153)CTG>ATG	p.L1051M	SPTBN1_uc002rxx.2_Missense_Mutation_p.L1038M	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1051	Spectrin 8.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			GAAGACCACCCTGAAAAACCG	0.637													A	54858335	C	A	54858335	3	1	94	1	0	0	0	0	1	0	0	0	15118	680	24	5	3322	5	SPTBN1	2	54858335	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	5215	54858335	188341038	426	59559											
SPTBN1	6711	broad.mit.edu	37	chr2	54870189	54870189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgatgaagccagaaatctgCacagtaaatggttgaagcat	10	7	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:54870189C>T	uc002rxu.2	+	19	4177	c.3928C>T	c.(3928-3930)CAC>TAC	p.H1310Y	SPTBN1_uc002rxx.2_Missense_Mutation_p.H1297Y	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1310	Spectrin 10.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			CAGAAATCTGCACAGTAAATG	0.418													T	54870189	C	T	54870189	3	4	94	1	0	0	0	0	1	0	0	0	15118	710	25	2	4111	2	SPTBN1	2	54870189	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	11854	54870189	188329184	427	59560											
MTIF2	4528	broad.mit.edu	37	chr2	55476655	55476655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtcacatttatttacgGcaaggataataggaactgaa	8	6	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:55476655G>A	uc002ryn.2	-	10	1594	c.857C>T	c.(856-858)GCC>GTC	p.A286V	MTIF2_uc010yox.1_5'UTR|MTIF2_uc002ryo.2_Missense_Mutation_p.A286V	NM_001005369	NP_001005369	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	286	G-domain.				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			ovary(1)	1						TTTATTTACGGCAAGGATAAT	0.383													A	55476655	G	A	55476655	3	1	94	1	0	0	0	0	1	0	0	0	9934	1203	42	2	1358	2	MTIF2	2	55476655	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	606466	55476655	187722718	428	59561											
CCDC88A	55704	broad.mit.edu	37	chr2	55561621	55561622	+	Frame_Shift_Ins	INS	-	-	T													ttcactctctaattgctggaINStttttttattgctgttctct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:55561621_55561622insT	uc002ryv.2	-	15	3177_3178	c.2335_2336insA	c.(2335-2337)ATCfs	p.I779fs	CCDC88A_uc010yoz.1_Frame_Shift_Ins_p.I779fs|CCDC88A_uc010ypa.1_Frame_Shift_Ins_p.I779fs|CCDC88A_uc010ypb.1_Frame_Shift_Ins_p.I681fs|CCDC88A_uc002ryu.2_Frame_Shift_Ins_p.I62fs|CCDC88A_uc002ryw.2_Frame_Shift_Ins_p.I62fs	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	779	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						TAATTGCTGGATTTTTTTATTG	0.327													T	55561622	-	T	55561621	7	5	94	1	0	1	1	0	0	0	0	0	2863	333	12	0	3351	0	CCDC88A	2	55561621	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	84966	55561621	187637752	429	59562	266	2									
CCDC88A	55704	broad.mit.edu	37	chr2	55561622	55561623	+	Frame_Shift_Ins	INS	-	-	T													tcactctctaattgctggatINSttttttattgctgttctcta							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:55561621_55561622A>AT	uc002ryv.2	-	14	3177_3178	c.2335_2336T>AT	c.(2335-2337)atcfs	p.I779fs	CCDC88A_uc010ypa.1_Frame_Shift_Ins_p.I779fs|CCDC88A_uc010yoz.1_Frame_Shift_Ins_p.I779fs|CCDC88A_uc010ypb.1_Frame_Shift_Ins_p.I681fs|CCDC88A_uc002ryu.2_Frame_Shift_Ins_p.I62fs|CCDC88A_uc002ryw.3_Frame_Shift_Ins_p.I62fs	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	779					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.I779fs*7(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TAATTGCTGGATTTTTTTATTG	0.327													T	55561623	-	T	55561622	7	5	94	1	0	1	1	0	0	0	0	0	2863	1493	52	0	3352	0	CCDC88A	2	55561622	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	55561622	187637751	430	59563	266	2									
CCDC88A	55704	broad.mit.edu	37	chr2	55561925	55561925	+	Frame_Shift_Del	DEL	T	T	-													atttttaaagctatccaatgTtttttttaattttctatttt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:55561924_55561924GT>G	uc002ryv.2	-	14	2875	c.2033_2033AC>C	c.(2032-2034)acafs	p.T678fs	CCDC88A_uc010ypa.1_Frame_Shift_Del_p.T678fs|CCDC88A_uc010yoz.1_Frame_Shift_Del_p.T678fs|CCDC88A_uc010ypb.1_Frame_Shift_Del_p.T580fs|CCDC88A_uc002ryu.2_5'UTR|CCDC88A_uc002ryw.3_5'UTR	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	678					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GCTATCCAATGTTTTTTTTAA	0.289													-	55561925	T	-	55561925	7	5	94	1	0	1	0	1	0	0	0	0	2863	1725	60	0	3655	0	CCDC88A	2	55561925	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	303	55561925	187637448	431	59564											
SMEK2	57223	broad.mit.edu	37	chr2	55795445	55795445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttcccttggtgatgtaaCgattataaaattcatcttta	6	6	2	1	rs143018045	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:55795445C>T	uc002rzc.2	-	13	2195	c.1820G>A	c.(1819-1821)CGT>CAT	p.R607H	SMEK2_uc002rzb.2_Missense_Mutation_p.R522H|SMEK2_uc002rzd.2_Missense_Mutation_p.R575H|SMEK2_uc002ryz.2_Missense_Mutation_p.R41H|SMEK2_uc002rza.2_Missense_Mutation_p.R398H	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 isoform 1	607						microtubule organizing center|nucleus	protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGTGATGTAACGATTATAAAA	0.318													T	55795445	C	T	55795445	3	4	94	1	0	0	0	0	1	0	0	0	14794	536	19	1	749	1	SMEK2	2	55795445	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	233520	55795445	187403928	432	59565											
BCL11A	53335	broad.mit.edu	37	chr2	60689070	60689070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacagcggtgggctagacGtgttccctgccagctctcta	14	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:60689070G>A	uc002sae.1	-	4	1205	c.977C>T	c.(976-978)ACG>ATG	p.T326M	BCL11A_uc002sab.2_Missense_Mutation_p.T326M|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Missense_Mutation_p.T292M|BCL11A_uc002sad.1_Missense_Mutation_p.T174M|BCL11A_uc002saf.1_Missense_Mutation_p.T292M	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	326	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGGGCTAGACGTGTTCCCTGC	0.617			T	IGH@	B-CLL								A	60689070	G	A	60689070	3	1	94	1	0	0	0	0	1	0	0	0	1363	1145	40	1	1640	1	BCL11A	2	60689070	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4893625	60689070	182510303	433	59566											
PAPOLG	64895	broad.mit.edu	37	chr2	60995614	60995614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttattttagaacctcccaCcttctgttgtggctactgtt	6	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:60995614C>T	uc002sai.2	+	4	487	c.256C>T	c.(256-258)CCT>TCT	p.P86S	PAPOLG_uc002saj.2_5'UTR|PAPOLG_uc002sak.2_5'UTR	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	86					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			GAACCTCCCACCTTCTGTTGT	0.318													T	60995614	C	T	60995614	3	4	94	1	0	0	0	0	1	0	0	0	11431	507	18	4	270	4	PAPOLG	2	60995614	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	306544	60995614	182203759	434	59567											
USP34	9736	broad.mit.edu	37	chr2	61522168	61522168	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaagatcactgtaacttccCtatgagaaaggcaaaaaaag	7	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:61522168C>A	uc002sbe.2	-	32	4400	c.4378_splice	c.e32-1	p.G1460_splice		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34						positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			TGTAACTTCCCTATGAGAAAG	0.338													A	61522168	C	A	61522168	5	1	94	1	0	0	0	0	0	0	1	0	17062	695	24	5	6459	5	USP34	2	61522168	Splice_Site	SNP	C	TCGA-BR-8487-01A-11D-2394-08	526554	61522168	181677205	435	59568											
EHBP1	23301	broad.mit.edu	37	chr2	63092086	63092086	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgctgatagttctaaaacTgaagaagaagaattggatga	10	3	1	6	rs145903425		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:63092086T>C	uc002sby.2	+	10	1565	c.1083T>C	c.(1081-1083)ACT>ACC	p.T361T	EHBP1_uc010fcp.2_Silent_p.T326T|EHBP1_uc002sbx.2_Silent_p.T326T|EHBP1_uc002sbz.2_Silent_p.T326T|EHBP1_uc002scb.2_Silent_p.T326T	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	361						cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GTTCTAAAACTGAAGAAGAAG	0.348									Hereditary_Prostate_Cancer				C	63092086	T	C	63092086	2	2	94	1	0	0	0	0	0	0	0	1	4975	1567	55	3		3	EHBP1	2	63092086	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1569918	63092086	180107287	436	59569											
GFPT1	2673	broad.mit.edu	37	chr2	69581630	69581630	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtaattttacctgttctgtAgagtataggaatgtgatcag	11	4	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:69581630A>G	uc002sfh.2	-	8	855	c.676T>C	c.(676-678)TAC>CAC	p.Y226H	GFPT1_uc002sfi.1_Missense_Mutation_p.Y68H	NM_002056	NP_002047	Q06210	GFPT1_HUMAN	glucosamine-fructose-6-phosphate	226	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			skin(1)	1						CCTGTTCTGTAGAGTATAGGA	0.373													G	69581630	A	G	69581630	3	3	94	1	0	0	0	0	1	0	0	0	6345	420	15	3	1417	3	GFPT1	2	69581630	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	6489544	69581630	173617743	437	59570											
MXD1	4084	broad.mit.edu	37	chr2	70143292	70143292	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgttaccatacaataAcaaggacagagatgccttaa	6	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:70143292A>G	uc002sfy.2	+	2	373	c.113A>G	c.(112-114)AAC>AGC	p.N38S	MXD1_uc010yqp.1_Missense_Mutation_p.N38S|MXD1_uc010yqq.1_5'UTR|MXD1_uc010yqr.1_RNA|MXD1_uc010yqs.1_Missense_Mutation_p.N38S	NM_002357	NP_002348	Q05195	MAD1_HUMAN	MAX dimerization protein 1	38	Nuclear localization signal (Potential).				cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						CCATACAATAACAAGGACAGA	0.373													G	70143292	A	G	70143292	3	3	94	1	0	0	0	0	1	0	0	0	9999	43	2	3	119	3	MXD1	2	70143292	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	561662	70143292	173056081	438	59571											
NAGK	55577	broad.mit.edu	37	chr2	71297876	71297876	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgattggggccagctgatCgggacagacaagtgtgtgga	16	7	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:71297876C>T	uc002shp.3	+	3	526	c.120C>T	c.(118-120)ATC>ATT	p.I40I	NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_5'UTR|NAGK_uc002shr.2_5'UTR	NM_017567	NP_060037	Q9UJ70	NAGK_HUMAN	N-Acetylglucosamine kinase	40					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding				0					N-Acetyl-D-glucosamine(DB00141)	GCCAGCTGATCGGGACAGACA	0.552											OREG0014689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	71297876	C	T	71297876	2	4	94	1	0	0	0	0	0	0	0	1	10142	874	31	1		1	NAGK	2	71297876	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1154584	71297876	171901497	439	59572											
CYP26B1	56603	broad.mit.edu	37	chr2	72371142	72371142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttgttgcggtggatgtcGccaatggaattggacaccgt	14	9	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:72371142G>A	uc002sih.1	-	2	405	c.405C>T	c.(403-405)GGC>GGT	p.G135G	CYP26B1_uc010yra.1_Silent_p.G118G|CYP26B1_uc010yrb.1_Intron	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily b,	135					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			skin(2)	2						GGTGGATGTCGCCAATGGAAT	0.393													A	72371142	G	A	72371142	2	1	94	1	0	0	0	0	0	0	0	1	4156	1074	38	1		1	CYP26B1	2	72371142	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1073266	72371142	170828231	440	59573											
FBXO41	150726	broad.mit.edu	37	chr2	73491645	73491645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccactgcctccctcggggcGggctgcagaataccaggggt	14	15	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:73491645G>A	uc002sjb.1	-	6	1750	c.1750C>T	c.(1750-1752)CGC>TGC	p.R584C		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	523	F-box.					intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						CCCTCGGGGCGGGCTGCAGAA	0.632													A	73491645	G	A	73491645	3	1	94	1	0	0	0	0	1	0	0	0	5750	1116	39	1	1092	1	FBXO41	2	73491645	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1120503	73491645	169707728	441	59574											
C2orf78	388960	broad.mit.edu	37	chr2	74042616	74042616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaatctaagaaataagagCctgagtcttgaggaccaagg	11	8	2	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:74042616C>T	uc002sjr.1	+	3	1387	c.1266C>T	c.(1264-1266)AGC>AGT	p.S422S		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	422										ovary(2)	2						GAAATAAGAGCCTGAGTCTTG	0.483													T	74042616	C	T	74042616	2	4	94	1	0	0	0	0	0	0	0	1	2195	738	26	2		2	C2orf78	2	74042616	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	550971	74042616	169156757	442	59575											
DCTN1	1639	broad.mit.edu	37	chr2	74593377	74593377	+	Frame_Shift_Del	DEL	G	G	-													aaatctccacctaccttgctGgggggccgctctgcatcata							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:74593376_74593376TG>T	uc002skx.3	-	22	3073	c.2755_2755CA>A	c.(2755-2757)agcfs	p.S919fs	SLC4A5_uc002skl.3_5'Flank|DCTN1_uc002skt.2_5'Flank|DCTN1_uc002skv.3_Frame_Shift_Del_p.S785fs|DCTN1_uc002sku.3_Frame_Shift_Del_p.S785fs|DCTN1_uc002skw.2_Frame_Shift_Del_p.S912fs|DCTN1_uc010ffd.3_Frame_Shift_Del_p.S899fs|DCTN1_uc002sky.3_Frame_Shift_Del_p.S882fs	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	919					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTACCTTGCTGGGGGGCCGC	0.557													-	74593377	G	-	74593377	7	5	94	1	0	1	0	1	0	0	0	0	4306	1335	47	0	1122	0	DCTN1	2	74593377	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	550761	74593377	168605996	443	59576											
INO80B	83444	broad.mit.edu	37	chr2	74682586	74682587	+	Frame_Shift_Ins	INS	-	-	A													tggccatggagtgcacaagaINSaaaaacacaagaagcacaag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:74682585_74682586G>GA	uc010yrs.2	+	0	366_367	c.165_166G>GA	c.(163-168)aagaaafs	p.K55fs	INO80B_uc002slg.3_Frame_Shift_Ins_p.K37fs|INO80B_uc010yrr.2_Frame_Shift_Ins_p.K24fs|INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002slj.2_5'Flank|WBP1_uc002sll.2_5'Flank	NM_031288	NP_112578	Q9C086	IN80B_HUMAN	Homo sapiens INO80 complex subunit B (INO80B), mRNA.	37					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GAGTGcacaagaaaaaacacaa	0.574													A	74682587	-	A	74682586	7	5	94	1	0	1	1	0	0	0	0	0	7747	247	9	0	118	0	INO80B	2	74682586	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	89209	74682586	168516787	444	59577											
RETSAT	54884	broad.mit.edu	37	chr2	85578126	85578126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgctgccctcttccataCgcccaatgtaatggattcct	6	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:85578126C>T	uc002spd.2	-	3	565	c.374G>A	c.(373-375)CGT>CAT	p.R125H	RETSAT_uc010fge.2_RNA|RETSAT_uc010ysm.1_Missense_Mutation_p.R64H|RETSAT_uc010fgf.2_Intron	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	all-trans-13,14-dihydroretinol saturase	125					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)	CTCTTCCATACGCCCAATGTA	0.512													T	85578126	C	T	85578126	3	4	94	1	0	0	0	0	1	0	0	0	13238	536	19	1	1494	1	RETSAT	2	85578126	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	10895540	85578126	157621247	445	59578											
GGCX	2677	broad.mit.edu	37	chr2	85786171	85786172	+	Frame_Shift_Ins	INS	-	-	G													agagctgagcccccgctcctINSggggaatgtctagcaccatc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:85786171_85786172insG	uc002sps.2	-	3	347_348	c.241_242insC	c.(241-243)CAGfs	p.Q81fs	GGCX_uc010yss.1_5'Flank|GGCX_uc010yst.1_Frame_Shift_Ins_p.Q24fs	NM_000821	NP_000812	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase isoform 1	81	Helical; (Potential).				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			ovary(1)	1					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	CCCCCGCTCCTGGGGAATGTCT	0.485													G	85786172	-	G	85786171	7	5	94	1	0	1	1	0	0	0	0	0	6356	1580	55	0	2086	0	GGCX	2	85786171	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	208045	85786171	157413202	446	59579	267	2									
GGCX	2677	broad.mit.edu	37	chr2	85786172	85786173	+	Frame_Shift_Ins	INS	-	-	G													gagctgagcccccgctcctgINSgggaatgtctagcaccatca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:85786171_85786172T>TG	uc002sps.3	-	2	347_348	c.241_242A>CA	c.(241-243)cagfs	p.Q81fs	GGCX_uc010yss.2_5'Flank|GGCX_uc010yst.2_Frame_Shift_Ins_p.Q24fs	NM_000821	NP_000812	P38435	VKGC_HUMAN	Homo sapiens gamma-glutamyl carboxylase (GGCX), transcript variant 1, mRNA.	81					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	CCCCCGCTCCTGGGGAATGTCT	0.554													G	85786173	-	G	85786172	7	5	94	1	0	1	1	0	0	0	0	0	6356	1357	47	0	2087	0	GGCX	2	85786172	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	85786172	157413201	447	59580	267	2									
C2orf68	388969	broad.mit.edu	37	chr2	85838877	85838877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcctcaccttctccttgGccgcctgcttcaccttcttg	6	19	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:85838877G>A	uc002sqc.2	-	2	212	c.140C>T	c.(139-141)GCC>GTC	p.A47V	USP39_uc002sqb.2_Intron|USP39_uc010ysu.1_5'Flank|USP39_uc010ysv.1_5'Flank|C2orf68_uc002sqd.2_Missense_Mutation_p.A47V	NM_001013649	NP_001013671	Q2NKX9	CB068_HUMAN	hypothetical protein LOC388969	47										central_nervous_system(1)	1						CTTCTCCTTGGCCGCCTGCTT	0.726													A	85838877	G	A	85838877	3	1	94	1	0	0	0	0	1	0	0	0	2187	1203	42	2	372	2	C2orf68	2	85838877	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	52705	85838877	157360496	448	59581											
IMMT	10989	broad.mit.edu	37	chr2	86371633	86371633	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatatcctcagggcagagctCtgggggcggcttcagttgct	14	10	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:86371633C>A	uc002sqz.3	-	15	2423	c.2035G>T	c.(2035-2037)GAG>TAG	p.E679*	IMMT_uc002sqy.3_Nonsense_Mutation_p.E420*|IMMT_uc002srb.3_Nonsense_Mutation_p.E668*|IMMT_uc002sra.3_Nonsense_Mutation_p.E678*|IMMT_uc010ytd.1_Nonsense_Mutation_p.E667*|IMMT_uc010yte.1_Nonsense_Mutation_p.E632*	NM_006839	NP_006830	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial isoform 1	679	Mitochondrial intermembrane (Potential).					integral to mitochondrial inner membrane	protein binding			skin(1)	1						GGGCAGAGCTCTGGGGGCGGC	0.453													A	86371633	C	A	86371633	4	1	94	1	0	0	0	0	0	1	0	0	7718	922	32	5	245	5	IMMT	2	86371633	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	532756	86371633	156827740	449	59582											
KDM3A	55818	broad.mit.edu	37	chr2	86716503	86716503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacttagatgtatctgatGcagctaatgtcatggtctat	8	7	4	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:86716503G>A	uc002sri.3	+	22	3703	c.3376G>A	c.(3376-3378)GCA>ACA	p.A1126T	KDM3A_uc010ytj.1_Missense_Mutation_p.A1126T|KDM3A_uc010ytk.1_Missense_Mutation_p.A1074T	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	1126	JmjC.				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						TGTATCTGATGCAGCTAATGT	0.408													A	86716503	G	A	86716503	3	1	94	1	0	0	0	0	1	0	0	0	8126	1319	46	2	3458	2	KDM3A	2	86716503	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	344870	86716503	156482870	450	59583											
TEKT4	150483	broad.mit.edu	37	chr2	95541445	95541445	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggctgtacctgcgctcgcAccggcccaacatggagctgt	12	16	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:95541445A>G	uc002stw.1	+	5	1142	c.1049A>G	c.(1048-1050)CAC>CGC	p.H350R	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	350					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3						CTGCGCTCGCACCGGCCCAAC	0.637													G	95541445	A	G	95541445	3	3	94	1	0	0	0	0	1	0	0	0	15752	159	6	3	1067	3	TEKT4	2	95541445	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	8824942	95541445	147657928	451	59584											
PROM2	150696	broad.mit.edu	37	chr2	95950790	95950790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggacctgctgagctcagCcgcccgccgggacctggagg	15	16	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:95950790C>T	uc002suh.1	+	15	1935	c.1802C>T	c.(1801-1803)GCC>GTC	p.A601V	PROM2_uc002sui.2_Missense_Mutation_p.A601V|PROM2_uc002suj.2_Missense_Mutation_p.A255V|PROM2_uc002suk.2_Missense_Mutation_p.A601V|PROM2_uc002sul.2_Missense_Mutation_p.A127V|PROM2_uc002sum.2_Intron	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	601	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1						CTGAGCTCAGCCGCCCGCCGG	0.637													T	95950790	C	T	95950790	3	4	94	1	0	0	0	0	1	0	0	0	12556	739	26	2	1860	2	PROM2	2	95950790	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	409345	95950790	147248583	452	59585											
ASTL	431705	broad.mit.edu	37	chr2	96795819	96795819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctcccatagtgcatcaCagaggagtagtcatagggcg	11	11	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:96795819C>T	uc010yui.1	-	7	703	c.703G>A	c.(703-705)GTG>ATG	p.V235M		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	235					proteolysis		metalloendopeptidase activity|zinc ion binding				0						TAGTGCATCACAGAGGAGTAG	0.498													T	96795819	C	T	96795819	3	4	94	1	0	0	0	0	1	0	0	0	1063	478	17	4	603	4	ASTL	2	96795819	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	845029	96795819	146403554	453	59586											
DUSP2	1844	broad.mit.edu	37	chr2	96809592	96809592	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacctgggtctcaaactgCagcagctgccccatgaaact	9	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:96809592C>T	uc002svk.3	-	4	1001	c.915G>A	c.(913-915)CTG>CTA	p.L305L		NM_004418	NP_004409	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	305					endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			breast(1)	1		Ovarian(717;0.0228)				TCTCAAACTGCAGCAGCTGCC	0.632													T	96809592	C	T	96809592	2	4	94	1	0	0	0	0	0	0	0	1	4819	697	25	2		2	DUSP2	2	96809592	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	13773	96809592	146389781	454	59587											
LOC285033	285033	broad.mit.edu	37	chr2	96906238	96906238	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcgggtcaactcttctcaGgaccagatccaagtcgccag	9	14	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:96906238G>T	uc002svp.1	+	1	262	c.177G>T	c.(175-177)CAG>CAT	p.Q59H	LOC285033_uc002svn.2_RNA|LOC285033_uc002svo.2_Missense_Mutation_p.Q136H	NM_001037228	NP_001032305	Q3KRF4	Q3KRF4_HUMAN	hypothetical protein LOC285033	59											0						ACTCTTCTCAGGACCAGATCC	0.537													T	96906238	G	T	96906238	3	4	94	1	0	0	0	0	1	0	0	0	8873	991	35	5	179	5	LOC285033	2	96906238	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	96646	96906238	146293135	455	59588											
LOC285033	285033	broad.mit.edu	37	chr2	96906418	96906418	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcctgcttccttccttccCtgcagttggtgagtatctgg	9	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:96906418C>A	uc002svp.1	+	1	442	c.357C>A	c.(355-357)CCC>CCA	p.P119P	LOC285033_uc002svn.2_RNA|LOC285033_uc002svo.2_Silent_p.P196P	NM_001037228	NP_001032305	Q3KRF4	Q3KRF4_HUMAN	hypothetical protein LOC285033	119											0						CCTTCCTTCCCTGCAGTTGGT	0.552													A	96906418	C	A	96906418	2	1	94	1	0	0	0	0	0	0	0	1	8873	668	24	5		5	LOC285033	2	96906418	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	180	96906418	146292955	456	59589											
KIAA1310	55683	broad.mit.edu	37	chr2	97274639	97274639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgggcagcttggcagctgGggaggcaggtcgactgcccc	19	12	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:97274639G>A	uc002swn.3	-	13	1692	c.1546C>T	c.(1546-1548)CCA>TCA	p.P516S	KIAA1310_uc002swh.3_Missense_Mutation_p.P404S|KIAA1310_uc002swi.3_Missense_Mutation_p.P417S|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Missense_Mutation_p.P429S|KIAA1310_uc010fhz.2_Missense_Mutation_p.P310S|KIAA1310_uc002swl.3_Missense_Mutation_p.P417S|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_Missense_Mutation_p.P310S|KIAA1310_uc002swp.1_Missense_Mutation_p.P417S	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN	hypothetical protein LOC55683 isoform a	516											0						TTGGCAGCTGGGGAGGCAGGT	0.612													A	97274639	G	A	97274639	3	1	94	1	0	0	0	0	1	0	0	0	8222	1232	43	4	1126	4	KIAA1310	2	97274639	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	368221	97274639	145924734	457	59590											
SEMA4C	54910	broad.mit.edu	37	chr2	97527106	97527106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcccccaaaggtccagcGggcatgggccaagttggagg	16	13	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:97527106G>A	uc002sxh.3	-	15	1919	c.1759C>T	c.(1759-1761)CGC>TGC	p.R587C	SEMA4C_uc002sxf.3_Missense_Mutation_p.R87C|SEMA4C_uc002sxe.2_Missense_Mutation_p.R128C|SEMA4C_uc002sxg.3_Missense_Mutation_p.R640C	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	semaphorin 4C precursor	587	Extracellular (Potential).|Ig-like C2-type.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			skin(2)	2						AAGGTCCAGCGGGCATGGGCC	0.672													A	97527106	G	A	97527106	3	1	94	1	0	0	0	0	1	0	0	0	14033	1116	39	1	746	1	SEMA4C	2	97527106	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	252467	97527106	145672267	458	59591											
SEMA4C	54910	broad.mit.edu	37	chr2	97529759	97529759	+	Frame_Shift_Del	DEL	G	G	-													ggtgcccttcttcacgagcaGggggcggctccaccgaggcc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:97529759delG	uc002sxh.3	-	11	1394	c.1234delC	c.(1234-1236)CTGfs	p.L412fs	SEMA4C_uc002sxf.3_5'Flank|SEMA4C_uc002sxe.2_5'Flank|SEMA4C_uc002sxg.3_Frame_Shift_Del_p.L465fs	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	semaphorin 4C precursor	412	Extracellular (Potential).|Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			skin(2)	2						TTCACGAGCAGGGGGCGGCTC	0.612													-	97529759	G	-	97529759	7	5	94	1	0	1	0	1	0	0	0	0	14033	991	35	0	1287	0	SEMA4C	2	97529759	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	2653	97529759	145669614	459	59592											
ACTR1B	10120	broad.mit.edu	37	chr2	98275411	98275411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaaagaacacctctgccGccttctcccggttcttactc	5	17	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:98275411G>A	uc002syb.2	-	5	579	c.371C>T	c.(370-372)GCG>GTG	p.A124V		NM_005735	NP_005726	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B,	124						centrosome|dynactin complex	ATP binding|protein binding			skin(1)	1						CACCTCTGCCGCCTTCTCCCG	0.607													A	98275411	G	A	98275411	3	1	94	1	0	0	0	0	1	0	0	0	210	1087	38	1	787	1	ACTR1B	2	98275411	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	745652	98275411	144923962	460	59593											
TMEM131	23505	broad.mit.edu	37	chr2	98430732	98430732	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcttcttctggtagcaacAcatcgtgaatgaggatcgca	11	9	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:98430732A>G	uc002syh.3	-	14	1641	c.1412T>C	c.(1411-1413)GTG>GCG	p.V471A	TMEM131_uc010yvg.1_RNA	NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	471						integral to membrane				ovary(4)|central_nervous_system(2)	6						TGGTAGCAACACATCGTGAAT	0.428													G	98430732	A	G	98430732	3	3	94	1	0	0	0	0	1	0	0	0	16041	159	6	3	4351	3	TMEM131	2	98430732	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	155321	98430732	144768641	461	59594											
C2orf55	343990	broad.mit.edu	37	chr2	99413865	99413865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttcagacttcagggtcCgtgccccaggcttgtcttcc	11	14	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:99413865C>T	uc002szf.1	-	8	2846	c.2552G>A	c.(2551-2553)CGG>CAG	p.R851Q		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	851											0						CTTCAGGGTCCGTGCCCCAGG	0.622													T	99413865	C	T	99413865	3	4	94	1	0	0	0	0	1	0	0	0	2176	652	23	1	348	1	C2orf55	2	99413865	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	983133	99413865	143785508	462	59595											
EIF5B	9669	broad.mit.edu	37	chr2	100009432	100009432	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtttttatctctgtagaaCcagtatgaaaagcataaaga	7	5	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:100009432C>T	uc002tab.2	+	18	2935	c.2751C>T	c.(2749-2751)AAC>AAT	p.N917N	EIF5B_uc010yvq.1_5'Flank	NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	917					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						CTCTGTAGAACCAGTATGAAA	0.303													T	100009432	C	T	100009432	2	4	94	1	0	0	0	0	0	0	0	1	5044	506	18	4		4	EIF5B	2	100009432	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	595567	100009432	143189941	463	59596											
AFF3	3899	broad.mit.edu	37	chr2	100210468	100210468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccgccacggccacggccGcgggcggggacttctgcttc	14	17	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:100210468G>A	uc002tag.2	-	14	1891	c.1655C>T	c.(1654-1656)GCG>GTG	p.A552V	AFF3_uc002taf.2_Missense_Mutation_p.A577V|AFF3_uc010fiq.1_Missense_Mutation_p.A552V|AFF3_uc010yvr.1_Missense_Mutation_p.A705V|AFF3_uc002tah.1_Missense_Mutation_p.A577V	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	552					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						GGCCACGGCCGCGGGCGGGGA	0.701													A	100210468	G	A	100210468	3	1	94	1	0	0	0	0	1	0	0	0	358	1087	38	1	2069	1	AFF3	2	100210468	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	201036	100210468	142988905	464	59597											
C2orf29	55571	broad.mit.edu	37	chr2	101869670	101869670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcggaggaggcgggcggcGgcagcaccttcgagggcctg	19	11	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:101869670G>A	uc002taw.3	+	1	326	c.244G>A	c.(244-246)GGC>AGC	p.G82S		NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN	hypothetical protein LOC55571	82					cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GGCGGGCGGCGGCAGCACCTT	0.542													A	101869670	G	A	101869670	3	1	94	1	0	0	0	0	1	0	0	0	2161	1116	39	1	246	1	C2orf29	2	101869670	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1659202	101869670	141329703	465	59598											
IL1R2	7850	broad.mit.edu	37	chr2	102644749	102644749	+	Frame_Shift_Del	DEL	G	G	-													tcactggccttcttggttttGgggggaatatggatgcacag					rs145225100		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:102644749delG	uc002tbm.2	+	9	1321	c.1092delG	c.(1090-1092)TTGfs	p.L364fs	IL1R2_uc002tbn.2_Frame_Shift_Del_p.L364fs	NM_004633	NP_004624	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II precursor	364	Helical; (Potential).				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			ovary(1)|breast(1)	2					Anakinra(DB00026)	TCTTGGTTTTGGGGGGAATAT	0.517													-	102644749	G	-	102644749	7	5	94	1	0	1	0	1	0	0	0	0	7659	1339	47	0	1122	0	IL1R2	2	102644749	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	775079	102644749	140554624	466	59599											
SLC9A4	389015	broad.mit.edu	37	chr2	103125352	103125352	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtacctggatgttaaaaaaaCcaataaaaaagaatccatca	5	7	1	1	rs151304810		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:103125352C>A	uc002tbz.3	+	6	1905	c.1448C>A	c.(1447-1449)ACC>AAC	p.T483N		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	483	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						GTTAAAAAAACCAATAAAAAA	0.353													A	103125352	C	A	103125352	3	1	94	1	0	0	0	0	1	0	0	0	14716	507	18	5	1470	5	SLC9A4	2	103125352	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	480603	103125352	140074021	467	59600											
ST6GAL2	84620	broad.mit.edu	37	chr2	107459975	107459975	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcccgtgggcctggctccccGggggaagggaatcccaatgt	15	13	0	0	rs142520495		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:107459975G>C	uc002tdq.2	-	2	578	c.459C>G	c.(457-459)CCC>CCG	p.P153P	ST6GAL2_uc002tdr.2_Silent_p.P153P|ST6GAL2_uc002tds.3_Silent_p.P153P	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	153	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						CTGGCTCCCCGGGGGAAGGGA	0.622													C	107459975	G	C	107459975	2	2	94	1	0	0	0	0	0	0	0	1	15221	1103	39	5		5	ST6GAL2	2	107459975	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4334623	107459975	135739398	468	59601											
SLC5A7	60482	broad.mit.edu	37	chr2	108627289	108627289	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttgattccagtccagaagGgtctgggactgaagataatt	12	6	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:108627289G>T	uc002tdv.2	+	9	1991	c.1715G>T	c.(1714-1716)GGG>GTG	p.G572V	SLC5A7_uc010ywm.1_Missense_Mutation_p.G325V|SLC5A7_uc010fjj.2_Missense_Mutation_p.G572V|SLC5A7_uc010ywn.1_Missense_Mutation_p.G459V	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	572	Cytoplasmic (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4					Choline(DB00122)	AGTCCAGAAGGGTCTGGGACT	0.428													T	108627289	G	T	108627289	3	4	94	1	0	0	0	0	1	0	0	0	14670	1232	43	5	1745	5	SLC5A7	2	108627289	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1167314	108627289	134572084	469	59602											
SULT1C3	442038	broad.mit.edu	37	chr2	108863760	108863760	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attatcaaaagaatggtgggAaaaagtatgtaatttccaag	9	3	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:108863760A>G	uc010ywo.1	+	1	110	c.110A>G	c.(109-111)GAA>GGA	p.E37G		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member	37						cytoplasm	alcohol sulfotransferase activity			skin(1)	1						GAATGGTGGGAAAAAGTATGT	0.363													G	108863760	A	G	108863760	3	3	94	1	0	0	0	0	1	0	0	0	15375	246	9	3	112	3	SULT1C3	2	108863760	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	236471	108863760	134335613	470	59603											
SULT1C2	6819	broad.mit.edu	37	chr2	108917317	108917317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaaaagccaaagcaatgCcctctccacggatactaaag	8	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:108917317C>T	uc002tdy.2	+	4	754	c.301C>T	c.(301-303)CCC>TCC	p.P101S	SULT1C2_uc010ywp.1_Intron|SULT1C2_uc002tdx.2_Intron|SULT1C2_uc010ywq.1_Missense_Mutation_p.P115S	NM_001056	NP_001047	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 1	101					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			ovary(1)	1						CAAAGCAATGCCCTCTCCACG	0.488													T	108917317	C	T	108917317	3	4	94	1	0	0	0	0	1	0	0	0	15374	739	26	2	410	2	SULT1C2	2	108917317	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	53557	108917317	134282056	471	59604											
MALL	7851	broad.mit.edu	37	chr2	110849315	110849315	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtatactatgtgggtggcGgctaccatggtccagaccaa	14	9	0	1	rs138070360	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:110849315G>A	uc002tfk.2	-	2	912	c.138C>T	c.(136-138)GCC>GCT	p.A46A	MALL_uc010fju.2_Intron	NM_005434	NP_005425	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	46	MARVEL.				cholesterol homeostasis	clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane	protein binding			ovary(1)|skin(1)	2				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		TGTGGGTGGCGGCTACCATGG	0.463													A	110849315	G	A	110849315	2	1	94	1	0	0	0	0	0	0	0	1	9201	1103	39	1		1	MALL	2	110849315	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1931998	110849315	132350058	472	59605											
PSD4	23550	broad.mit.edu	37	chr2	113940629	113940629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggacctccccggggacaCgggcctgcactccagcccac	12	18	0	0	rs145372882		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:113940629C>T	uc002tjc.2	+	2	779	c.596C>T	c.(595-597)ACG>ATG	p.T199M	PSD4_uc002tjd.2_Translation_Start_Site|PSD4_uc002tje.2_Missense_Mutation_p.T198M|PSD4_uc002tjf.2_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	199					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						CCCGGGGACACGGGCCTGCAC	0.637													T	113940629	C	T	113940629	3	4	94	1	0	0	0	0	1	0	0	0	12649	536	19	1	598	1	PSD4	2	113940629	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3091314	113940629	129258744	473	59606											
PSD4	23550	broad.mit.edu	37	chr2	113950909	113950909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctaccagttctccagacGcttccaccattgcaatccgg	6	17	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:113950909G>A	uc002tjc.2	+	8	2177	c.1994G>A	c.(1993-1995)CGC>CAC	p.R665H	PSD4_uc002tjd.2_Missense_Mutation_p.R286H|PSD4_uc002tje.2_Missense_Mutation_p.R636H|PSD4_uc002tjf.2_Missense_Mutation_p.R286H	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	665	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						TTCTCCAGACGCTTCCACCAT	0.597													A	113950909	G	A	113950909	3	1	94	1	0	0	0	0	1	0	0	0	12649	1087	38	1	2020	1	PSD4	2	113950909	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	10280	113950909	129248464	474	59607											
PAX8	7849	broad.mit.edu	37	chr2	113993122	113993122	+	Frame_Shift_Del	DEL	G	G	-													gagctagaactggacacctcGggggtttcctgctttatggc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:113993122delG	uc010yxt.1	-	9	1102	c.936delC	c.(934-936)CCCfs	p.P312fs	PAX8_uc010yxu.1_Intron|PAX8_uc010yxv.1_Intron|PAX8_uc002tjm.2_Intron|PAX8_uc002tjn.2_Intron|uc002tjp.2_RNA|LOC654433_uc002tjq.3_RNA|LOC654433_uc010fks.2_RNA|LOC654433_uc010fkt.2_RNA|LOC654433_uc002tjr.3_5'Flank	NM_003466	NP_003457	Q06710	PAX8_HUMAN	paired box 8 isoform PAX8A	312					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity			ovary(1)|lung(1)	2						TGGACACCTCGGGGGTTTCCT	0.592			T	PPARG	follicular thyroid		Thyroid dysgenesis 						-	113993122	G	-	113993122	7	5	94	1	0	1	0	1	0	0	0	0	11485	1103	39	0	432	0	PAX8	2	113993122	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	42213	113993122	129206251	475	59608											
STEAP3	55240	broad.mit.edu	37	chr2	120020822	120020822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcatcagccgcagactcGccaggatccggagaggctgg	14	14	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:120020822G>A	uc002tlp.2	+	6	1532	c.1375G>A	c.(1375-1377)GCC>ACC	p.A459T	STEAP3_uc002tlq.2_Missense_Mutation_p.A469T|STEAP3_uc002tlr.2_Missense_Mutation_p.A459T|STEAP3_uc010fle.2_3'UTR	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	459	Cytoplasmic (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			central_nervous_system(2)|skin(1)	3						CCGCAGACTCGCCAGGATCCG	0.637													A	120020822	G	A	120020822	3	1	94	1	0	0	0	0	1	0	0	0	15278	1087	38	1	1423	1	STEAP3	2	120020822	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	6027700	120020822	123178551	476	59609											
INHBB	3625	broad.mit.edu	37	chr2	121107172	121107172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattgacttccgcctcatcGgctggaacgactggatcata	9	12	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:121107172G>A	uc002tmn.2	+	2	992	c.946G>A	c.(946-948)GGC>AGC	p.G316S		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	316					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)				CCGCCTCATCGGCTGGAACGA	0.632													A	121107172	G	A	121107172	3	1	94	1	0	0	0	0	1	0	0	0	7742	1116	39	1	952	1	INHBB	2	121107172	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1086350	121107172	122092201	477	59610											
GLI2	2736	broad.mit.edu	37	chr2	121728140	121728140	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatcaatgccacgcccacCcagctcagcagcagcagcaa	7	18	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:121728140C>T	uc010flp.2	+	6	1047	c.1017C>T	c.(1015-1017)ACC>ACT	p.T339T	GLI2_uc002tmq.1_Silent_p.T11T|GLI2_uc002tmr.1_Silent_p.T11T|GLI2_uc002tmt.3_Silent_p.T11T|GLI2_uc002tmu.3_Silent_p.T11T|GLI2_uc002tmv.1_Missense_Mutation_p.P210S|GLI2_uc010flo.1_Silent_p.T214T|GLI2_uc002tmw.1_Silent_p.T339T	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	339					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				CCACGCCCACCCAGCTCAGCA	0.622													T	121728140	C	T	121728140	2	4	94	1	0	0	0	0	0	0	0	1	6438	610	22	4		4	GLI2	2	121728140	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	620968	121728140	121471233	478	59611											
BIN1	274	broad.mit.edu	37	chr2	127821515	127821515	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgggcctcacctgttcCacagggacggcagctcctcc	12	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:127821515C>T	uc002tns.1	-	8	1037	c.692G>A	c.(691-693)TGG>TAG	p.W231*	BIN1_uc010yzf.1_Nonsense_Mutation_p.W176*|BIN1_uc010yzg.1_Nonsense_Mutation_p.W231*|BIN1_uc002tnu.1_Nonsense_Mutation_p.W200*|BIN1_uc002toa.1_Nonsense_Mutation_p.W200*|BIN1_uc002tnt.1_Nonsense_Mutation_p.W200*|BIN1_uc002tnv.1_Nonsense_Mutation_p.W231*|BIN1_uc002tnw.1_Nonsense_Mutation_p.W200*|BIN1_uc002tnx.1_Nonsense_Mutation_p.W200*|BIN1_uc002tny.1_Nonsense_Mutation_p.W231*|BIN1_uc002tnz.1_Nonsense_Mutation_p.W200*|BIN1_uc002tob.1_Nonsense_Mutation_p.W200*|BIN1_uc002toc.1_Nonsense_Mutation_p.W200*	NM_139343	NP_647593	O00499	BIN1_HUMAN	bridging integrator 1 isoform 1	231	BAR.|Potential.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				ovary(2)|central_nervous_system(2)|skin(2)|lung(1)	7	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCACCTGTTCCACAGGGACGG	0.652													T	127821515	C	T	127821515	4	4	94	1	0	0	0	0	0	1	0	0	1432	595	21	4	1186	4	BIN1	2	127821515	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	6093375	127821515	115377858	479	59612											
CYP27C1	339761	broad.mit.edu	37	chr2	127944877	127944877	+	Frame_Shift_Del	DEL	G	G	-													ttaacaaatcgcacgtggatGggcccccctggcgtcaggag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:127944876_127944876TG>T	uc002tod.2	-	7	1221	c.1090_1090CA>A	c.(1090-1092)atcfs	p.I364fs	CYP27C1_uc021vnn.1_Frame_Shift_Del_p.I364fs	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA.	364						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CGCACGTGGATGGGCCCCCCT	0.478													-	127944877	G	-	127944877	7	5	94	1	0	1	0	1	0	0	0	0	4160	1335	47	0	33	0	CYP27C1	2	127944877	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	123362	127944877	115254496	480	59613	268	3									
CYP27C1	339761	broad.mit.edu	37	chr2	127944879	127944880	+	Frame_Shift_Ins	INS	-	-	C													acaaatcgcacgtggatgggINScccccctggcgtcaggagcc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:127944879_127944880insC	uc002tod.2	-	8	1217_1218	c.1086_1087insG	c.(1084-1089)GGGCCCfs	p.G362fs		NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C,	362_363						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		ACGTGGATGGGCCCCCCTGGCG	0.475													C	127944880	-	C	127944879	7	5	94	1	0	1	1	0	0	0	0	0	4160	1203	42	0	35	0	CYP27C1	2	127944879	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	2	127944879	115254494	481	59614	268	3									
CYP27C1	339761	broad.mit.edu	37	chr2	127944880	127944881	+	Frame_Shift_Ins	INS	-	-	C													caaatcgcacgtggatgggcINSccccctggcgtcaggagccc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:127944879_127944880G>GC	uc002tod.2	-	7	1217_1218	c.1086_1087C>GC	c.(1084-1089)gggcccfs	p.G362fs	CYP27C1_uc021vnn.1_Frame_Shift_Ins_p.G362fs	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA.	362						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		ACGTGGATGGGCCCCCCTGGCG	0.475													C	127944881	-	C	127944880	7	5	94	1	0	1	1	0	0	0	0	0	4160	726	26	0	36	0	CYP27C1	2	127944880	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	127944880	115254493	482	59615	268	3									
ERCC3	2071	broad.mit.edu	37	chr2	128030506	128030506	+	Frame_Shift_Del	DEL	C	C	-													ctggagaatttgcatcctttCcccctgagacgtaggtccgt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:128030506delC	uc002toh.1	-	11	1857	c.1762delG	c.(1762-1764)GAAfs	p.E588fs	ERCC3_uc002toe.1_Frame_Shift_Del_p.E343fs|ERCC3_uc002tof.1_Frame_Shift_Del_p.E524fs|ERCC3_uc002tog.1_Frame_Shift_Del_p.E524fs	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	588	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGCATCCTTTCCCCCTGAGAC	0.453			Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				-	128030506	C	-	128030506	7	5	94	1	0	1	0	1	0	0	0	0	5214	864	30	0	606	0	ERCC3	2	128030506	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	85626	128030506	115168867	483	59616											
IWS1	55677	broad.mit.edu	37	chr2	128238676	128238676	+	Frame_Shift_Del	DEL	T	T	-													cactgcgtgtgcagatctgcTttttttccttatatctgtga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:128238676delT	uc002ton.2	-	14	2707	c.2404delA	c.(2404-2406)AGCfs	p.S802fs		NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	802					transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GCAGATCTGCTTTTTTTCCTT	0.423													-	128238676	T	-	128238676	7	5	94	1	0	1	0	1	0	0	0	0	7931	1609	56	0	59	0	IWS1	2	128238676	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	208170	128238676	114960697	484	59617											
SAP130	79595	broad.mit.edu	37	chr2	128770681	128770681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgtgaggtcggcctcaGgactgtggttactttagaac	13	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:128770681G>A	uc002tpp.2	-	6	877	c.745C>T	c.(745-747)CTG>TTG	p.L249L	SAP130_uc002tpn.2_Silent_p.L10L|SAP130_uc002tpo.2_5'UTR|SAP130_uc010fmd.2_Silent_p.L249L|SAP130_uc002tpq.1_Silent_p.L223L	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	249					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GTCGGCCTCAGGACTGTGGTT	0.473													A	128770681	G	A	128770681	2	1	94	1	0	0	0	0	0	0	0	1	13831	991	35	4		4	SAP130	2	128770681	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	532005	128770681	114428692	485	59618											
SAP130	79595	broad.mit.edu	37	chr2	128772415	128772415	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccaatgtgaagagggggcCcaggagcattgctgcggatg	16	9	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:128772415C>A	uc002tpp.2	-	5	791	c.659G>T	c.(658-660)GGG>GTG	p.G220V	SAP130_uc002tpn.2_5'Flank|SAP130_uc002tpo.2_5'UTR|SAP130_uc010fmd.2_Missense_Mutation_p.G220V|SAP130_uc002tpq.1_Missense_Mutation_p.G194V	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	220					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AAGAGGGGGCCCAGGAGCATT	0.418													A	128772415	C	A	128772415	3	1	94	1	0	0	0	0	1	0	0	0	13831	623	22	5	2660	5	SAP130	2	128772415	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1734	128772415	114426958	486	59619											
UGGT1	56886	broad.mit.edu	37	chr2	128886646	128886646	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagctcgggtaatggagggtCtgcatagattgggaatagaa	15	4	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:128886646C>T	uc002tps.2	+	13	1448	c.1270C>T	c.(1270-1272)CTG>TTG	p.L424L	UGGT1_uc010fme.1_Silent_p.L299L|UGGT1_uc002tpr.2_Silent_p.L400L	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	424					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1						AATGGAGGGTCTGCATAGATT	0.423													T	128886646	C	T	128886646	2	4	94	1	0	0	0	0	0	0	0	1	16938	912	32	4		4	UGGT1	2	128886646	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	114231	128886646	114312727	487	59620											
TUBA3E	112714	broad.mit.edu	37	chr2	130951632	130951632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagtggatgcgggggtaCggcacgaggttggtctggaa	21	5	1	0	rs150508021		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:130951632C>T	uc002tqv.2	-	4	884	c.783G>A	c.(781-783)CCG>CCA	p.P261P		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	261					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1	Colorectal(110;0.1)					TGCGGGGGTACGGCACGAGGT	0.602													T	130951632	C	T	130951632	2	4	94	1	0	0	0	0	0	0	0	1	16745	523	19	1		1	TUBA3E	2	130951632	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2064986	130951632	112247741	488	59621											
GPR148	344561	broad.mit.edu	37	chr2	131487357	131487357	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcatgggcacccagccGggatgtggcctcctggtcat	13	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:131487357G>A	uc002trv.1	+	1	635	c.633G>A	c.(631-633)CCG>CCA	p.P211P		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	211	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1	Colorectal(110;0.1)					GCACCCAGCCGGGATGTGGCC	0.542													A	131487357	G	A	131487357	2	1	94	1	0	0	0	0	0	0	0	1	6653	1103	39	1		1	GPR148	2	131487357	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	535725	131487357	111712016	489	59622											
POTEE	445582	broad.mit.edu	37	chr2	131976372	131976372	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgccttcatggagcccaggTaccacgtccgtggagaagat	13	12	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:131976372T>C	uc002tsn.2	+	1	449	c.397T>C	c.(397-399)TAC>CAC	p.Y133H	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	133							ATP binding				0						GGAGCCCAGGTACCACGTCCG	0.602													C	131976372	T	C	131976372	3	2	94	1	0	0	0	0	1	0	0	0	12264	1638	57	3	399	3	POTEE	2	131976372	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	489015	131976372	111223001	490	59623											
MGAT5	4249	broad.mit.edu	37	chr2	135206337	135206337	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcttcagctgtgcaggCgcccaccccaggcaccagag	11	17	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:135206337C>T	uc002ttv.1	+	16	2290	c.2145C>T	c.(2143-2145)GGC>GGT	p.G715G	LOC151162_uc002ttw.3_5'Flank	NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	715	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GCTGTGCAGGCGCCCACCCCA	0.587													T	135206337	C	T	135206337	2	4	94	1	0	0	0	0	0	0	0	1	9548	755	27	1		1	MGAT5	2	135206337	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3229965	135206337	107993036	491	59624											
ACMSD	130013	broad.mit.edu	37	chr2	135621077	135621077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggacgttgcccatgcaggCccctgagctggcggtcaagg	17	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:135621077C>T	uc002ttz.2	+	5	429	c.362C>T	c.(361-363)GCC>GTC	p.A121V	ACMSD_uc002tua.2_Missense_Mutation_p.A63V	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	121					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.115)		CCCATGCAGGCCCCTGAGCTG	0.592													T	135621077	C	T	135621077	3	4	94	1	0	0	0	0	1	0	0	0	144	739	26	2	380	2	ACMSD	2	135621077	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	414740	135621077	107578296	492	59625											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135848616	135848616	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaatcagatgaaatttccTttgctgacttcaagttctca	6	8	3	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:135848616T>C	uc002tuj.2	+	4	224	c.199T>C	c.(199-201)TTT>CTT	p.F67L	RAB3GAP1_uc010fnf.2_Missense_Mutation_p.F67L|RAB3GAP1_uc010fng.2_5'UTR|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	67						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)		TGAAATTTCCTTTGCTGACTT	0.328													C	135848616	T	C	135848616	3	2	94	1	0	0	0	0	1	0	0	0	12935	1609	56	3	213	3	RAB3GAP1	2	135848616	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	227539	135848616	107350757	493	59626											
MCM6	4175	broad.mit.edu	37	chr2	136620237	136620237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcaaacatttatgtcccctCgaagagaggtcccttctcct	7	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:136620237C>T	uc002tuw.2	-	8	1236	c.1160G>A	c.(1159-1161)CGA>CAA	p.R387Q		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	387	MCM.			PKTTGEGTSLR -> SKDNRRRDLSS (in Ref. 2; AAC50766).	cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TATGTCCCCTCGAAGAGAGGT	0.448													T	136620237	C	T	136620237	3	4	94	1	0	0	0	0	1	0	0	0	9391	884	31	1	1345	1	MCM6	2	136620237	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	771621	136620237	106579136	494	59627											
NXPH2	11249	broad.mit.edu	37	chr2	139428706	139428707	+	Frame_Shift_Ins	INS	-	-	T													ggtctttttcgcccgatctgINSttttttcatactcaatgcga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:139428706_139428707insT	uc002tvi.2	-	2	580_581	c.580_581insA	c.(580-582)ACAfs	p.T194fs		NM_007226	NP_009157	O95156	NXPH2_HUMAN	neurexophilin 2 precursor	194	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				ovary(3)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(221;0.101)		CGCCCGATCTGTTTTTTCATAC	0.5													T	139428707	-	T	139428706	7	5	94	1	0	1	1	0	0	0	0	0	10791	1377	48	0	217	0	NXPH2	2	139428706	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	2808469	139428706	103770667	495	59628	269	2									
NXPH2	11249	broad.mit.edu	37	chr2	139428707	139428708	+	Frame_Shift_Ins	INS	-	-	T													gtctttttcgcccgatctgtINStttttcatactcaatgcgac							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:139428706_139428707G>GT	uc002tvi.3	-	1	580_581	c.580_581C>AC	c.(580-582)acafs	p.T194fs		NM_007226	NP_009157	O95156	NXPH2_HUMAN	Homo sapiens neurexophilin 2 (NXPH2), mRNA.	194	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CGCCCGATCTGTTTTTTCATAC	0.5													T	139428708	-	T	139428707	7	5	94	1	0	1	1	0	0	0	0	0	10791	1725	60	0	218	0	NXPH2	2	139428707	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	139428707	103770666	496	59629	269	2									
LRP1B	53353	broad.mit.edu	37	chr2	141260673	141260673	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtaccacactgtcgatatcCtagagacgcagaaaaaacat	7	10	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:141260673C>A	uc002tvj.1	-	54	9494	c.8522_splice	c.e54-1	p.G2841_splice		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTCGATATCCTAGAGACGCA	0.398										TSP Lung(27;0.18)			A	141260673	C	A	141260673	5	1	94	1	0	0	0	0	0	0	1	0	8955	695	24	5	5430	5	LRP1B	2	141260673	Splice_Site	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1831966	141260673	101938700	497	59630											
LRP1B	53353	broad.mit.edu	37	chr2	141609292	141609292	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcagcactcctattgtgaTtgattagacacatgtgagag	11	7	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:141609292T>C	uc002tvj.1	-	28	5612	c.4640A>G	c.(4639-4641)AAT>AGT	p.N1547S	LRP1B_uc010fnl.1_Missense_Mutation_p.N729S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1547	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTATTGTGATTGATTAGACA	0.433										TSP Lung(27;0.18)			C	141609292	T	C	141609292	3	2	94	1	0	0	0	0	1	0	0	0	8955	1493	52	3	9415	3	LRP1B	2	141609292	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	348619	141609292	101590081	498	59631											
LRP1B	53353	broad.mit.edu	37	chr2	141946087	141946087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaattacaaacaaagatccGgtcaccgacatggtccacaa	8	11	1	1	rs147347638		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:141946087G>A	uc002tvj.1	-	7	1888	c.916C>T	c.(916-918)CGG>TGG	p.R306W	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	306	Extracellular (Potential).|LDL-receptor class B 2.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAAAGATCCGGTCACCGACA	0.418										TSP Lung(27;0.18)			A	141946087	G	A	141946087	3	1	94	1	0	0	0	0	1	0	0	0	8955	1115	39	1	13223	1	LRP1B	2	141946087	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	336795	141946087	101253286	499	59632											
MBD5	55777	broad.mit.edu	37	chr2	149227817	149227817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatgcaaacactaactttGttcacagtaacagtccagtc	5	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:149227817G>A	uc002twm.3	+	9	3293	c.2305G>A	c.(2305-2307)GTT>ATT	p.V769I	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.V769I|MBD5_uc002twn.1_Missense_Mutation_p.V210I	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	769						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CACTAACTTTGTTCACAGTAA	0.478													A	149227817	G	A	149227817	3	1	94	1	0	0	0	0	1	0	0	0	9347	1377	48	4	2319	4	MBD5	2	149227817	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	7281730	149227817	93971556	500	59633											
MBD5	55777	broad.mit.edu	37	chr2	149247420	149247420	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaatctagaccatgggAaaaatgtgaacgaaggagat	11	6	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:149247420A>G	uc002twm.3	+	12	4508	c.3520A>G	c.(3520-3522)AAA>GAA	p.K1174E	MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.K1174E|MBD5_uc002two.2_Missense_Mutation_p.K432E|MBD5_uc002twp.2_Missense_Mutation_p.K224E	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1174						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGACCATGGGAAAAATGTGAA	0.512													G	149247420	A	G	149247420	3	3	94	1	0	0	0	0	1	0	0	0	9347	247	9	3	3546	3	MBD5	2	149247420	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	19603	149247420	93951953	501	59634											
NEB	4703	broad.mit.edu	37	chr2	152500374	152500374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgagcatggatgacatcGctctggtcgggcaggcatgt	15	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:152500374G>A	uc010fnx.2	-	57	8105	c.7914C>T	c.(7912-7914)AGC>AGT	p.S2638S		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2638	Nebulin 71.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGATGACATCGCTCTGGTCGG	0.507													A	152500374	G	A	152500374	2	1	94	1	0	0	0	0	0	0	0	1	10302	1078	38	1		1	NEB	2	152500374	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3252954	152500374	90698999	502	59635											
GALNT13	114805	broad.mit.edu	37	chr2	155157975	155157975	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgctcccatgttggtcaTgtttttcggaaggcaactcc	9	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:155157975T>C	uc002tyr.3	+	9	1596	c.1029T>C	c.(1027-1029)CAT>CAC	p.H343H	GALNT13_uc002tyt.3_Silent_p.H343H|GALNT13_uc010foc.1_Silent_p.H162H|GALNT13_uc010fod.2_Silent_p.H96H	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	343	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						ATGTTGGTCATGTTTTTCGGA	0.408													C	155157975	T	C	155157975	2	2	94	1	0	0	0	0	0	0	0	1	6211	1461	51	3		3	GALNT13	2	155157975	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2657601	155157975	88041398	503	59636											
KCNJ3	3760	broad.mit.edu	37	chr2	155711558	155711559	+	Frame_Shift_Ins	INS	-	-	A													ctggaagagaagactttcccINSaaaaaactcttgaggatgag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:155711558_155711559insA	uc002tyv.1	+	3	1434_1435	c.1239_1240insA	c.(1237-1242)CCCAAAfs	p.P413fs	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	413_414	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	AAGACTTTCCCAAAAAACTCTT	0.391													A	155711559	-	A	155711558	7	5	94	1	0	1	1	0	0	0	0	0	8052	581	21	0	1249	0	KCNJ3	2	155711558	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	553583	155711558	87487815	504	59637	270	2									
KCNJ3	3760	broad.mit.edu	37	chr2	155711559	155711560	+	Frame_Shift_Ins	INS	-	-	A													tggaagagaagactttcccaINSaaaaactcttgaggatgagt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:155711558_155711559C>CA	uc002tyv.1	+	2	1434_1435	c.1239_1240C>CA	c.(1237-1242)cccaaafs	p.P413fs	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	413					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.F412F(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AAGACTTTCCCAAAAAACTCTT	0.391													A	155711560	-	A	155711559	7	5	94	1	0	1	1	0	0	0	0	0	8052	131	5	0	1250	0	KCNJ3	2	155711559	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	155711559	87487814	505	59638	270	2									
NR4A2	4929	broad.mit.edu	37	chr2	157186467	157186467	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacaggggcatttggtacaAgcaaggtggcttgacgtcgt	16	7	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:157186467A>G	uc002tyz.3	-	3	654	c.232T>C	c.(232-234)TTG>CTG	p.L78L	NR4A2_uc002tyx.3_Silent_p.L15L|NR4A2_uc010zcf.1_Silent_p.L78L|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	78					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						ATTTGGTACAAGCAAGGTGGC	0.532													G	157186467	A	G	157186467	2	3	94	1	0	0	0	0	0	0	0	1	10633	69	3	3		3	NR4A2	2	157186467	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1474908	157186467	86012906	506	59639											
TANC1	85461	broad.mit.edu	37	chr2	160086261	160086261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactcaacgactccgagaacGaagaggacaccccaacccct	7	17	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:160086261G>A	uc002uag.2	+	27	4598	c.4324G>A	c.(4324-4326)GAA>AAA	p.E1442K	TANC1_uc010zcm.1_3'UTR|TANC1_uc010fon.2_Missense_Mutation_p.E286K	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1442						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						CTCCGAGAACGAAGAGGACAC	0.542													A	160086261	G	A	160086261	3	1	94	1	0	0	0	0	1	0	0	0	15541	1059	37	1	4427	1	TANC1	2	160086261	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2899794	160086261	83113112	507	59640											
LY75	4065	broad.mit.edu	37	chr2	160676263	160676263	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caattttacaagcaagaatgCtgtgctggtgaaaataaact	8	6	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:160676263C>A	uc002ubc.3	-	29	4196	c.4127G>T	c.(4126-4128)AGC>ATC	p.S1376I	LY75_uc002ubb.3_Missense_Mutation_p.S1376I|LY75_uc010fos.2_Missense_Mutation_p.S1376I	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	1376	Extracellular (Potential).				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		AGCAAGAATGCTGTGCTGGTG	0.343													A	160676263	C	A	160676263	3	1	94	1	0	0	0	0	1	0	0	0	9099	797	28	5	1069	5	LY75	2	160676263	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	590002	160676263	82523110	508	59641											
LY75	4065	broad.mit.edu	37	chr2	160734894	160734894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttcttccaccaacagttGcccagttatactctccacaa	4	16	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:160734894G>A	uc002ubc.3	-	11	1784	c.1715C>T	c.(1714-1716)GCA>GTA	p.A572V	LY75_uc002ubb.3_Missense_Mutation_p.A572V|LY75_uc010fos.2_Missense_Mutation_p.A572V|LY75_uc010fot.1_Missense_Mutation_p.A572V	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	572	Extracellular (Potential).|C-type lectin 3.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		ACCAACAGTTGCCCAGTTATA	0.388													A	160734894	G	A	160734894	3	1	94	1	0	0	0	0	1	0	0	0	9099	1319	46	2	3553	2	LY75	2	160734894	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	58631	160734894	82464479	509	59642											
TBR1	10716	broad.mit.edu	37	chr2	162275407	162275407	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttcccgccggacagatggTggttttacagtccttgcaca	10	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:162275407T>A	uc002ubw.1	+	4	1276	c.974T>A	c.(973-975)GTG>GAG	p.V325E	TBR1_uc010foy.2_Missense_Mutation_p.V38E	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	325	T-box.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						GGACAGATGGTGGTTTTACAG	0.557													A	162275407	T	A	162275407	3	1	94	1	0	0	0	0	1	0	0	0	15644	1696	59	5	988	5	TBR1	2	162275407	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1540513	162275407	80923966	510	59643											
TBR1	10716	broad.mit.edu	37	chr2	162280648	162280648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtccgagagttcgtccccGctcaagagcgaggtgctggc	15	12	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:162280648G>A	uc002ubw.1	+	6	2261	c.1959G>A	c.(1957-1959)CCG>CCA	p.P653P	TBR1_uc010foy.2_Silent_p.P366P	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	653						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						GTTCGTCCCCGCTCAAGAGCG	0.602													A	162280648	G	A	162280648	2	1	94	1	0	0	0	0	0	0	0	1	15644	1074	38	1		1	TBR1	2	162280648	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	5241	162280648	80918725	511	59644											
GCG	2641	broad.mit.edu	37	chr2	163003895	163003896	+	Frame_Shift_Ins	INS	-	-	A													tattcatcaaccactgcacaINSaaatcttgggcacgcctgga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:163003894_163003895C>CA	uc002ucc.3	-	2	478_479	c.222_223G>TG	c.(220-225)tttgtgfs	p.F74fs		NM_002054	NP_002045	P01275	GLUC_HUMAN	Homo sapiens glucagon (GCG), mRNA.	74					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	AACCACTGCACAAAATCTTGGG	0.436													A	163003896	-	A	163003895	7	5	94	1	0	1	1	0	0	0	0	0	6290	127	5	0	336	0	GCG	2	163003895	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	723247	163003895	80195478	512	59645											
GRB14	2888	broad.mit.edu	37	chr2	165477753	165477753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgccacacacctgggcggCcagcggcgaatcccgggcag	15	16	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:165477753C>T	uc002ucl.2	-	1	608	c.67G>A	c.(67-69)GCC>ACC	p.A23T	GRB14_uc002ucm.2_RNA	NM_004490	NP_004481	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	23					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						ACCTGGGCGGCCAGCGGCGAA	0.766													T	165477753	C	T	165477753	3	4	94	1	0	0	0	0	1	0	0	0	6757	739	26	2	1611	2	GRB14	2	165477753	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2473858	165477753	77721620	513	59646											
SLC38A11	151258	broad.mit.edu	37	chr2	165755181	165755181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtccttggttcttcagaCagtttcagataacaggctga	10	8	3	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:165755181C>T	uc002ucv.1	-	13	1524	c.987G>A	c.(985-987)CTG>CTA	p.L329L	SLC38A11_uc002ucu.1_Silent_p.L307L|SLC38A11_uc002ucw.1_Silent_p.L329L	NM_173512	NP_775783	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	329	Extracellular (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1						GTTCTTCAGACAGTTTCAGAT	0.418													T	165755181	C	T	165755181	2	4	94	1	0	0	0	0	0	0	0	1	14603	465	17	4		4	SLC38A11	2	165755181	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	277428	165755181	77444192	514	59647											
SCN3A	6328	broad.mit.edu	37	chr2	165984441	165984441	+	Frame_Shift_Del	DEL	A	A	-													tctataacttttggctttctAaaaaaggctttttggaaaca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:165984441delA	uc002ucx.2	-	18	3585	c.3093delT	c.(3091-3093)TTTfs	p.F1031fs	SCN3A_uc002ucy.2_Frame_Shift_Del_p.F982fs|SCN3A_uc002ucz.2_Frame_Shift_Del_p.F982fs|SCN3A_uc002uda.1_Frame_Shift_Del_p.F851fs|SCN3A_uc002udb.1_Frame_Shift_Del_p.F851fs	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1031						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	TTGGCTTTCTAAAAAAGGCTT	0.328													-	165984441	A	-	165984441	7	5	94	1	0	1	0	1	0	0	0	0	13918	359	13	0	2953	0	SCN3A	2	165984441	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	229260	165984441	77214932	515	59648											
SCN2A	6326	broad.mit.edu	37	chr2	166165865	166165865	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaccccctattacagataTgtgacagagtttgtggacct	9	9	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:166165865T>C	uc002udc.2	+	6	899	c.609T>C	c.(607-609)TAT>TAC	p.Y203Y	SCN2A_uc002udd.2_Silent_p.Y203Y|SCN2A_uc002ude.2_Intron	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	203	Helical; Name=S3 of repeat I; (Potential).|I.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	ATTACAGATATGTGACAGAGT	0.433													C	166165865	T	C	166165865	2	2	94	1	0	0	0	0	0	0	0	1	13916	1471	51	3		3	SCN2A	2	166165865	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	181424	166165865	77033508	516	59649											
SCN2A	6326	broad.mit.edu	37	chr2	166246013	166246013	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgagcccattacgaccacGttgaaacgcaaacaagagga	9	10	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:166246013G>A	uc002udc.2	+	27	5987	c.5697G>A	c.(5695-5697)ACG>ACA	p.T1899T	SCN2A_uc002udd.2_Silent_p.T1899T|SCN2A_uc002ude.2_Silent_p.T1899T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1899					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	TTACGACCACGTTGAAACGCA	0.443													A	166246013	G	A	166246013	2	1	94	1	0	0	0	0	0	0	0	1	13916	1132	40	1		1	SCN2A	2	166246013	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	80148	166246013	76953360	517	59650											
SCN9A	6335	broad.mit.edu	37	chr2	167168247	167168247	+	Frame_Shift_Del	DEL	G	G	-													ggacaaagctctgaggtcctGggggaggcaacattgccatc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:167168247delG	uc010fpl.2	-	2	361	c.20delC	c.(19-21)CCAfs	p.P7fs		NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	7						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTGAGGTCCTGGGGGAGGCAA	0.403													-	167168247	G	-	167168247	7	5	94	1	0	1	0	1	0	0	0	0	13925	1348	47	0	6017	0	SCN9A	2	167168247	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	922234	167168247	76031126	518	59651											
SCN7A	6332	broad.mit.edu	37	chr2	167262953	167262953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaattatacattccaaataCggcatagatgaacatgacca	5	8	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:167262953C>T	uc002udu.1	-	25	4313	c.4186G>A	c.(4186-4188)GTA>ATA	p.V1396I		NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	1396	Helical; Name=S5 of repeat IV; (By similarity).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						ATTCCAAATACGGCATAGATG	0.363													T	167262953	C	T	167262953	3	4	94	1	0	0	0	0	1	0	0	0	13923	536	19	1	866	1	SCN7A	2	167262953	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	94706	167262953	75936420	519	59652											
LASS6	253782	broad.mit.edu	37	chr2	169417819	169417819	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccaagcacgctgacgaggTtctgtgagagcatgtaagtt	13	8	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:169417819T>C	uc002ueb.1	+	3	518	c.394T>C	c.(394-396)TTC>CTC	p.F132L	LASS6_uc002uec.1_Missense_Mutation_p.F132L	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	longevity assurance homolog 6	132	Cytoplasmic (Potential).|TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			skin(1)	1						GCTGACGAGGTTCTGTGAGAG	0.463													C	169417819	T	C	169417819	3	2	94	1	0	0	0	0	1	0	0	0	8643	1725	60	3	404	3	LASS6	2	169417819	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2154866	169417819	73781554	520	59653											
ABCB11	8647	broad.mit.edu	37	chr2	169781256	169781256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgagcaatagcaatgcGttgtttctcccctctagaga	10	12	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:169781256G>A	uc002ueo.1	-	27	3802	c.3676C>T	c.(3676-3678)CGC>TGC	p.R1226C	ABCB11_uc010zda.1_Missense_Mutation_p.R644C|ABCB11_uc010zdb.1_Missense_Mutation_p.R702C	NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	1226	Cytoplasmic (Potential).|ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ATAGCAATGCGTTGTTTCTCC	0.398													A	169781256	G	A	169781256	3	1	94	1	0	0	0	0	1	0	0	0	42	1145	40	1	297	1	ABCB11	2	169781256	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	363437	169781256	73418117	521	59654											
LRP2	4036	broad.mit.edu	37	chr2	170135979	170135979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatttaccatatctatgcGgttgaccttggtttccacta	6	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:170135979G>A	uc002ues.2	-	12	1681	c.1468C>T	c.(1468-1470)CGC>TGC	p.R490C	LRP2_uc010zdf.1_Missense_Mutation_p.R490C	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	490	LDL-receptor class B 2.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATATCTATGCGGTTGACCTTG	0.428													A	170135979	G	A	170135979	3	1	94	1	0	0	0	0	1	0	0	0	8956	1116	39	1	12771	1	LRP2	2	170135979	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	354723	170135979	73063394	522	59655											
KBTBD10	10324	broad.mit.edu	37	chr2	170366496	170366496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatctgaaattgatgaggcgAaaaaaaaggaggtagtgcta	12	3	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:170366496A>G	uc002ueu.1	+	1	285	c.208A>G	c.(208-210)AAA>GAA	p.K70E	KBTBD10_uc010zdh.1_Intron	NM_006063	NP_006054	O60662	KBTBA_HUMAN	kelch repeat and BTB (POZ) domain containing 10	70	BTB.				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle					0						TGATGAGGCGAAAAAAAAGGA	0.388													G	170366496	A	G	170366496	3	3	94	1	0	0	0	0	1	0	0	0	7990	247	9	3	210	3	KBTBD10	2	170366496	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	230517	170366496	72832877	523	59656											
KBTBD10	10324	broad.mit.edu	37	chr2	170367065	170367065	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagttctaaaagatgctttCgcaggcaaactcccagaacc	7	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:170367065C>T	uc002ueu.1	+	1	854	c.777C>T	c.(775-777)TTC>TTT	p.F259F	KBTBD10_uc010zdh.1_Intron	NM_006063	NP_006054	O60662	KBTBA_HUMAN	kelch repeat and BTB (POZ) domain containing 10	259					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle					0						AAGATGCTTTCGCAGGCAAAC	0.393													T	170367065	C	T	170367065	2	4	94	1	0	0	0	0	0	0	0	1	7990	883	31	1		1	KBTBD10	2	170367065	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	569	170367065	72832308	524	59657											
PHOSPHO2	493911	broad.mit.edu	37	chr2	170557504	170557504	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaattttgctagtttttgActttgacaatacaatcatag	6	5	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:170557504A>G	uc002ufg.2	+	4	411	c.23A>G	c.(22-24)GAC>GGC	p.D8G	KLHL23_uc002ufh.1_Intron	NM_001008489	NP_001008489	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	8		Magnesium (By similarity).|Nucleophile (By similarity).					metal ion binding|pyridoxal phosphatase activity			skin(1)	1						CTAGTTTTTGACTTTGACAAT	0.323													G	170557504	A	G	170557504	3	3	94	1	0	0	0	0	1	0	0	0	11857	275	10	3	25	3	PHOSPHO2	2	170557504	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	190439	170557504	72641869	525	59658											
SP5	389058	broad.mit.edu	37	chr2	171573060	171573060	+	Frame_Shift_Del	DEL	C	C	-													cgcacgagcttccccttacaCcccccgccgacccctcgtac							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:171573059_171573059AC>A	uc002uge.3	+	1	508	c.342_342AC>A	c.(340-342)acafs	p.T114fs	LOC440925_uc002ugd.2_5'Flank	NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN	Homo sapiens Sp5 transcription factor (SP5), mRNA.	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						TTCCCCTTACACCCCCCGCCG	0.721													-	171573060	C	-	171573060	7	5	94	1	0	1	0	1	0	0	0	0	14967	507	18	0	349	0	SP5	2	171573060	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	1015556	171573060	71626313	526	59659											
KIAA1715	80856	broad.mit.edu	37	chr2	176856973	176856973	+	Frame_Shift_Del	DEL	A	A	-													acttacatcaatggaaaagcAaaaaatgggagtgtcatggc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:176856972_176856972CA>C	uc010fqw.1	-	3	442	c.442_442TG>G	c.(442-444)gctfs	p.A148fs	KIAA1715_uc010zes.1_Frame_Shift_Del_p.A84fs|KIAA1715_uc002ukd.1_Intron|KIAA1715_uc002ukc.1_Frame_Shift_Del_p.A82fs|KIAA1715_uc010zer.1_Frame_Shift_Del_p.A82fs|KIAA1715_uc010zet.1_Non-coding_Transcript			Q9C0E8	LNP_HUMAN	Homo sapiens KIAA1715 (KIAA1715), mRNA.	82						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			AATGGAAAAGCAAAAAATGGG	0.313													-	176856973	A	-	176856973	7	5	94	1	0	1	0	1	0	0	0	0	8254	127	5	0	1083	0	KIAA1715	2	176856973	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	5283913	176856973	66342400	527	59660											
HOXD9	3235	broad.mit.edu	37	chr2	176987530	176987530	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgggacgcctcaaaatgTcttccagtggcaccctcagc	11	14	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:176987530T>A	uc010zex.1	+	1	118	c.34T>A	c.(34-36)TCT>ACT	p.S12T		NM_014213	NP_055028	P28356	HXD9_HUMAN	homeobox D9	12						nucleus	sequence-specific DNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CCTCAAAATGTCTTCCAGTGG	0.677													A	176987530	T	A	176987530	3	1	94	1	0	0	0	0	1	0	0	0	7326	1667	58	5	36	5	HOXD9	2	176987530	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	130557	176987530	66211843	528	59661											
HOXD3	3232	broad.mit.edu	37	chr2	177033976	177033976	+	Frame_Shift_Del	DEL	C	C	-													ggacacttacggctacagcaCcccccaccagccctacccac							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:177033975_177033975AC>A	uc002ukt.1	+	1	309	c.133_133AC>A	c.(133-135)accfs	p.T45fs		NM_006898	NP_008829	P31249	HXD3_HUMAN	Homo sapiens homeobox D3 (HOXD3), mRNA.	45					Notch signaling pathway|anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CGGCTACAGCACCCCCCACCA	0.577													-	177033976	C	-	177033976	7	5	94	1	0	1	0	1	0	0	0	0	7323	507	18	0	136	0	HOXD3	2	177033976	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	46446	177033976	66165397	529	59662											
HNRNPA3	220988	broad.mit.edu	37	chr2	178077589	178077589	+	Frame_Shift_Del	DEL	G	G	-													cggccgtcgccgtcgccgccGgggggaggaggtattagggg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:178077589delG	uc002ulb.1	+	1	168	c.62delG	c.(61-63)CGGfs	p.R21fs	HNRNPA3_uc002ulc.1_Frame_Shift_Del_p.R21fs|HNRNPA3_uc002uld.2_Intron	NM_194247	NP_919223	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	21						catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			ovary(2)	2						CGTCGCCGCCGGGGGGAGGAG	0.701													-	178077589	G	-	178077589	7	5	94	1	0	1	0	1	0	0	0	0	7260	1116	39	0	64	0	HNRNPA3	2	178077589	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	1043613	178077589	65121784	530	59663											
TTC30A	92104	broad.mit.edu	37	chr2	178482964	178482964	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaacccaggttgacctggcCatcggtctcattgtcgcctc	9	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:178482964C>A	uc002ulo.2	-	1	731	c.466G>T	c.(466-468)GGC>TGC	p.G156C		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	156	TPR 3.				cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			TTGACCTGGCCATCGGTCTCA	0.582													A	178482964	C	A	178482964	3	1	94	1	0	0	0	0	1	0	0	0	16695	594	21	5	1535	5	TTC30A	2	178482964	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	405375	178482964	64716409	531	59664											
PLEKHA3	65977	broad.mit.edu	37	chr2	179355475	179355475	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgcagctgaaagacagAggtggctggtcgctctgggg	17	7	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:179355475A>C	uc002umn.2	+	3	645	c.247A>C	c.(247-249)AGG>CGG	p.R83R		NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A	83	PH.					cytoplasm|membrane				ovary(1)|kidney(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			TGAAAGACAGAGGTGGCTGGT	0.418													C	179355475	A	C	179355475	2	2	94	1	0	0	0	0	0	0	0	1	12057	295	11	5		5	PLEKHA3	2	179355475	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	872511	179355475	63843898	532	59665											
TTN	7273	broad.mit.edu	37	chr2	179398170	179398170	+	Frame_Shift_Del	DEL	G	G	-													tctcccattttaatgttggtGgggggatgccagacactctg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:179398170delG	uc010zfg.1	-	307	95692	c.95468delC	c.(95467-95469)CCAfs	p.P31823fs	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.P25518fs|TTN_uc010zfi.1_Frame_Shift_Del_p.P25451fs|TTN_uc010zfj.1_Frame_Shift_Del_p.P25326fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32750							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAATGTTGGTGGGGGGATGCC	0.458													-	179398170	G	-	179398170	7	5	94	1	0	1	0	1	0	0	0	0	16732	1348	47	0	4827	0	TTN	2	179398170	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	42695	179398170	63801203	533	59666											
TTN	7273	broad.mit.edu	37	chr2	179438111	179438111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgatgatttcacttccacCatcagaatcaggatgtcccc	6	12	3	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:179438111C>T	uc010zfg.1	-	275	65268	c.65044G>A	c.(65044-65046)GGT>AGT	p.G21682S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G15377S|TTN_uc010zfi.1_Missense_Mutation_p.G15310S|TTN_uc010zfj.1_Missense_Mutation_p.G15185S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22609							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACTTCCACCATCAGAATCA	0.408													T	179438111	C	T	179438111	3	4	94	1	0	0	0	0	1	0	0	0	16732	594	21	4	35379	4	TTN	2	179438111	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	39941	179438111	63761262	534	59667											
TTN	7273	broad.mit.edu	37	chr2	179458084	179458084	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgtttagacatagtttctctCttttccaggatgtagtttgt	8	7	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:179458084C>G	uc010zfg.1	-	248	51371	c.51147G>C	c.(51145-51147)AAG>AAC	p.K17049N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K10744N|TTN_uc010zfi.1_Missense_Mutation_p.K10677N|TTN_uc010zfj.1_Missense_Mutation_p.K10552N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17976							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGTTTCTCTCTTTTCCAGGA	0.393													G	179458084	C	G	179458084	3	3	94	1	0	0	0	0	1	0	0	0	16732	912	32	5	49384	5	TTN	2	179458084	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	19973	179458084	63741289	535	59668											
TTN	7273	broad.mit.edu	37	chr2	179459139	179459139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtccaacaatgttgacaGcactgacacggtactcatag	8	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:179459139G>A	uc010zfg.1	-	245	50602	c.50378C>T	c.(50377-50379)GCT>GTT	p.A16793V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A10488V|TTN_uc010zfi.1_Missense_Mutation_p.A10421V|TTN_uc010zfj.1_Missense_Mutation_p.A10296V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17720							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGTTGACAGCACTGACACG	0.383													A	179459139	G	A	179459139	3	1	94	1	0	0	0	0	1	0	0	0	16732	971	34	2	50165	2	TTN	2	179459139	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1055	179459139	63740234	536	59669											
TTN	7273	broad.mit.edu	37	chr2	179484491	179484491	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttatcaccctggacaacaAccatgttatttcttagccat	5	11	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:179484491A>G	uc010zfg.1	-	199	39073	c.38849T>C	c.(38848-38850)GTT>GCT	p.V12950A	TTN_uc010zfh.1_Missense_Mutation_p.V6645A|TTN_uc010zfi.1_Missense_Mutation_p.V6578A|TTN_uc010zfj.1_Missense_Mutation_p.V6453A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13877							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGACAACAACCATGTTATT	0.413													G	179484491	A	G	179484491	3	3	94	1	0	0	0	0	1	0	0	0	16732	43	2	3	61592	3	TTN	2	179484491	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	25352	179484491	63714882	537	59670											
TTN	7273	broad.mit.edu	37	chr2	179500703	179500703	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactaacctactacttttacGcaagatgaacactccaggtt	5	11	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:179500703G>A	uc010zfg.1	-	175	34115	c.33891C>T	c.(33889-33891)TGC>TGT	p.C11297C	TTN_uc010zfh.1_Silent_p.C4992C|TTN_uc010zfi.1_Silent_p.C4925C|TTN_uc010zfj.1_Silent_p.C4800C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12224							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTACTTTTACGCAAGATGAAC	0.428													A	179500703	G	A	179500703	2	1	94	1	0	0	0	0	0	0	0	1	16732	1079	38	1		1	TTN	2	179500703	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	16212	179500703	63698670	538	59671											
TTN	7273	broad.mit.edu	37	chr2	179605004	179605004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttcctcaattctgaccGcagaatcttgccctgcattt	6	14	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:179605004G>A	uc010zfh.1	-	46	12667	c.12443C>T	c.(12442-12444)GCG>GTG	p.A4148V	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.A4081V|TTN_uc010zfj.1_Missense_Mutation_p.A3956V|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTCTGACCGCAGAATCTTG	0.448													A	179605004	G	A	179605004	3	1	94	1	0	0	0	0	1	0	0	0	16732	1087	38	1	91833	1	TTN	2	179605004	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	104301	179605004	63594369	539	59672											
ITGAV	3685	broad.mit.edu	37	chr2	187533573	187533573	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataataataacactctgttgTatatccttcattatgatatt	3	6	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:187533573T>C	uc002upq.2	+	25	2794	c.2518T>C	c.(2518-2520)TAT>CAT	p.Y840H	ITGAV_uc010frs.2_Missense_Mutation_p.Y804H|ITGAV_uc010zfv.1_Missense_Mutation_p.Y794H	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	840	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CACTCTGTTGTATATCCTTCA	0.363													C	187533573	T	C	187533573	3	2	94	1	0	0	0	0	1	0	0	0	7888	1638	57	3	2667	3	ITGAV	2	187533573	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	7928569	187533573	55665800	540	59673											
ZSWIM2	151112	broad.mit.edu	37	chr2	187693167	187693167	+	Frame_Shift_Del	DEL	T	T	-													attttataatcataggttaaTttttttgaatttgaattatc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:187693167delT	uc002upu.1	-	9	1486	c.1446delA	c.(1444-1446)AAAfs	p.K482fs		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	482					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CATAGGTTAATTTTTTTGAAT	0.313													-	187693167	T	-	187693167	7	5	94	1	0	1	0	1	0	0	0	0	18238	1490	52	0	459	0	ZSWIM2	2	187693167	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	159594	187693167	55506206	541	59674											
ZSWIM2	151112	broad.mit.edu	37	chr2	187703885	187703885	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctctttctccaagacccaGttgtaaagcagctagtgaga	8	11	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:187703885G>T	uc002upu.1	-	4	335	c.295C>A	c.(295-297)CTG>ATG	p.L99M		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	99					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCAAGACCCAGTTGTAAAGCA	0.388													T	187703885	G	T	187703885	3	4	94	1	0	0	0	0	1	0	0	0	18238	1020	36	5	1630	5	ZSWIM2	2	187703885	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	10718	187703885	55495488	542	59675											
ANKAR	150709	broad.mit.edu	37	chr2	190557866	190557866	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagattcaggatataaagaaTattactcaataccagtcatg	6	6	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:190557866T>C	uc002uqw.1	+	4	1057	c.1057T>C	c.(1057-1059)TAT>CAT	p.Y353H	ANKAR_uc002uqu.2_RNA	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	424						integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ATATAAAGAATATTACTCAAT	0.289													C	190557866	T	C	190557866	3	2	94	1	0	0	0	0	1	0	0	0	623	1406	49	3	1284	3	ANKAR	2	190557866	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2853981	190557866	52641507	543	59676											
GLS	2744	broad.mit.edu	37	chr2	191819482	191819482	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggggtgggacggtataggTcatgttgaagttgttaaatt	16	2	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:191819482T>C	uc002usf.2	+	17	2055	c.1791T>C	c.(1789-1791)GGT>GGC	p.G597G	GLS_uc002ush.2_Silent_p.G258G|GLS_uc010zgi.1_Missense_Mutation_p.S200P|GLS_uc010zgj.1_Silent_p.G102G	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase precursor	597	ANK.				cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACGGTATAGGTCATGTTGAAG	0.373													C	191819482	T	C	191819482	2	2	94	1	0	0	0	0	0	0	0	1	6463	1681	58	3		3	GLS	2	191819482	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1261616	191819482	51379891	544	59677											
SDPR	8436	broad.mit.edu	37	chr2	192700726	192700726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcctcctcggatgttaGcgcgtagctaccctcatagc	9	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:192700726G>A	uc002utb.2	-	2	1531	c.1201C>T	c.(1201-1203)CTA>TTA	p.L401L		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	401						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TCGGATGTTAGCGCGTAGCTA	0.602													A	192700726	G	A	192700726	2	1	94	1	0	0	0	0	0	0	0	1	13970	962	34	2		2	SDPR	2	192700726	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	881244	192700726	50498647	545	59678											
DNAH7	56171	broad.mit.edu	37	chr2	196753019	196753019	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taaattcaaccgaaacagggAccattctgtcaaataagccc	6	11	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:196753019A>T	uc002utj.3	-	33	5470	c.5369T>A	c.(5368-5370)GTC>GAC	p.V1790D		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1790	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						CGAAACAGGGACCATTCTGTC	0.348													T	196753019	A	T	196753019	3	4	94	1	0	0	0	0	1	0	0	0	4606	275	10	5	6837	5	DNAH7	2	196753019	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	4052293	196753019	46446354	546	59679											
MOBKL3	25843	broad.mit.edu	37	chr2	198405143	198405143	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatttttctttgtgcagcTcataaaactccaaaagaggt	8	7	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:198405143T>C	uc002uun.3	+	5	376	c.336T>C	c.(334-336)GCT>GCC	p.A112A	MOBKL3_uc002uum.3_Silent_p.A80A|MOBKL3_uc010fsn.2_Silent_p.A91A|MOBKL3_uc010fso.2_Silent_p.A13A|MOBKL3_uc010zgz.1_Silent_p.A13A	NM_015387	NP_056202	Q9Y3A3	MOBL3_HUMAN	Mps One Binder kinase activator-like 3 isoform	112					transport	Golgi cisterna membrane|perinuclear region of cytoplasm	metal ion binding|protein binding				0			Epithelial(96;0.225)			TTTGTGCAGCTCATAAAACTC	0.294													C	198405143	T	C	198405143	2	2	94	1	0	0	0	0	0	0	0	1	9687	1538	54	3		3	MOBKL3	2	198405143	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1652124	198405143	44794230	547	59680											
MARS2	92935	broad.mit.edu	37	chr2	198570830	198570830	+	Frame_Shift_Del	DEL	C	C	-													gggcaaccctcaggcgatcaCccccgaaccatttcatcacg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:198570830delC	uc002uuq.2	+	1	744	c.701delC	c.(700-702)ACCfs	p.T234fs	uc002uup.2_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	methionine-tRNA synthetase 2 precursor	234					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3					L-Methionine(DB00134)	CAGGCGATCACCCCCGAACCA	0.582													-	198570830	C	-	198570830	7	5	94	1	0	1	0	1	0	0	0	0	9317	507	18	0	703	0	MARS2	2	198570830	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	165687	198570830	44628543	548	59681											
SATB2	23314	broad.mit.edu	37	chr2	200137088	200137088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatattcagccacgtccaccGcggagcccaggtgctctttc	9	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:200137088G>A	uc002uuy.1	-	11	2865	c.2048C>T	c.(2047-2049)GCG>GTG	p.A683V	SATB2_uc010fsq.1_Missense_Mutation_p.A565V|SATB2_uc002uuz.1_Missense_Mutation_p.A683V|SATB2_uc002uva.1_Missense_Mutation_p.A683V	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	683						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						CACGTCCACCGCGGAGCCCAG	0.572													A	200137088	G	A	200137088	3	1	94	1	0	0	0	0	1	0	0	0	13854	1087	38	1	157	1	SATB2	2	200137088	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1566258	200137088	43062285	549	59682											
BZW1	9689	broad.mit.edu	37	chr2	201685969	201685970	+	Frame_Shift_Del	DEL	AG	AG	-													tgcacatgttgcaaaggggaAgagtgttttccttgagcaaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:201685969_201685970delAG	uc010zhg.1	+	11	1317_1318	c.1265_1266delAG	c.(1264-1266)AAGfs	p.K422fs	BZW1_uc002uwc.2_Frame_Shift_Del_p.K324fs	NM_014670	NP_055485	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	390	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding				0						GCAAAGGGGAAGAGTGTTTTCC	0.381													-	201685970	AG	-	201685969	7	5	94	1	0	1	0	1	0	0	0	0	1578	72	3	0	1009	0	BZW1	2	201685969	Frame_Shift_Del	DEL	AG	TCGA-BR-8487-01A-11D-2394-08	1548881	201685969	41513404	550	59683											
CASP10	843	broad.mit.edu	37	chr2	202050593	202050593	+	Frame_Shift_Del	DEL	G	G	-													ctgattattgattcaaacctGggggtccaagatgtggagaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:202050592_202050592TG>T	uc002uxj.1	+	1	510	c.92_92TG>T	c.(91-93)ctgfs	p.L31fs	CASP10_uc002uxi.1_Frame_Shift_Del_p.L31fs|CASP10_uc010zhn.1_Non-coding_Transcript|CASP10_uc010ftb.2_Frame_Shift_Del_p.L31fs|CASP10_uc010fta.1_Frame_Shift_Del_p.L31fs|CASP10_uc002uxk.1_Frame_Shift_Del_p.L31fs|CASP10_uc002uxl.2_Frame_Shift_Del_p.L31fs|CASP10_uc002uxm.2_Frame_Shift_Del_p.L31fs	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	31	DED 1.				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GATTCAAACCTGGGGGTCCAA	0.438													-	202050593	G	-	202050593	7	5	94	1	0	1	0	1	0	0	0	0	2669	1335	47	0	95	0	CASP10	2	202050593	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	364624	202050593	41148780	551	59684											
CASP8	841	broad.mit.edu	37	chr2	202131222	202131222	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaaagatggacttcagcAgaaatctttatgatattggg	9	4	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:202131222A>G	uc002uxr.1	+	3	222	c.13A>G	c.(13-15)AGA>GGA	p.R5G	CASP8_uc010ftc.1_Missense_Mutation_p.R5G|CASP8_uc002uxo.1_Missense_Mutation_p.R5G|CASP8_uc002uxp.1_Missense_Mutation_p.R5G|CASP8_uc002uxq.1_Missense_Mutation_p.R5G|CASP8_uc002uxs.1_Missense_Mutation_p.R5G|CASP8_uc002uxt.1_Missense_Mutation_p.R64G|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.R5G|CASP8_uc002uxw.1_Missense_Mutation_p.R5G|CASP8_uc002uxy.1_Missense_Mutation_p.R5G|CASP8_uc002uxx.1_Missense_Mutation_p.R5G|CASP8_uc010ftf.2_Missense_Mutation_p.R5G	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	5	DED 1.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						GGACTTCAGCAGAAATCTTTA	0.403										HNSCC(4;0.00038)			G	202131222	A	G	202131222	3	3	94	1	0	0	0	0	1	0	0	0	2677	180	7	3	196	3	CASP8	2	202131222	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	80629	202131222	41068151	552	59685											
ALS2CR4	65062	broad.mit.edu	37	chr2	202498046	202498046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcctactttgtcttcctcCgaggtttttgaataactgcc	6	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:202498046C>T	uc002uyh.1	-	7	484	c.383G>A	c.(382-384)CGG>CAG	p.R128Q	ALS2CR4_uc002uyg.1_Missense_Mutation_p.R120Q|ALS2CR4_uc010zho.1_5'Flank|ALS2CR4_uc010zhp.1_RNA	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	152						integral to membrane	protein binding				0						TGTCTTCCTCCGAGGTTTTTG	0.403													T	202498046	C	T	202498046	3	4	94	1	0	0	0	0	1	0	0	0	554	652	23	1	875	1	ALS2CR4	2	202498046	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	366824	202498046	40701327	553	59686											
MPP4	58538	broad.mit.edu	37	chr2	202510002	202510002	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctcctgagccttctgTatggcagacaacaactgggc	11	13	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:202510002T>C	uc002uyk.3	-	22	2053	c.1845A>G	c.(1843-1845)ATA>ATG	p.I615M	ALS2CR4_uc002uyg.1_5'Flank|ALS2CR4_uc002uyh.1_5'Flank|MPP4_uc002uyi.3_Missense_Mutation_p.I233M|MPP4_uc010ftj.2_Missense_Mutation_p.I608M|MPP4_uc010zhq.1_Missense_Mutation_p.I584M|MPP4_uc010zhr.1_Missense_Mutation_p.I591M|MPP4_uc010zhs.1_Missense_Mutation_p.I540M|MPP4_uc002uyj.3_Missense_Mutation_p.I580M|MPP4_uc010zht.1_Missense_Mutation_p.I557M|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.I571M	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	615	Guanylate kinase-like.|Potential.					cytoplasm	protein binding				0						GAGCCTTCTGTATGGCAGACA	0.438													C	202510002	T	C	202510002	3	2	94	1	0	0	0	0	1	0	0	0	9736	1628	57	3	72	3	MPP4	2	202510002	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	11956	202510002	40689371	554	59687											
ALS2	57679	broad.mit.edu	37	chr2	202588083	202588083	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaaggtgaaagttgccctcGtagtataatccaaactgggt	10	7	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:202588083G>A	uc002uyo.2	-	22	3950	c.3594C>T	c.(3592-3594)TAC>TAT	p.Y1198Y	ALS2_uc002uyp.3_Silent_p.Y1198Y|ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	1198	MORN 7.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7						AGTTGCCCTCGTAGTATAATC	0.368													A	202588083	G	A	202588083	2	1	94	1	0	0	0	0	0	0	0	1	550	1140	40	1		1	ALS2	2	202588083	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	78081	202588083	40611290	555	59688											
FZD7	8324	broad.mit.edu	37	chr2	202900173	202900173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgctgtgctgcgcctcgaCgctctttaccgttctcacct	9	16	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:202900173C>T	uc002uyw.1	+	1	864	c.803C>T	c.(802-804)ACG>ATG	p.T268M		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	268	Helical; Name=1; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(2)|ovary(1)|breast(1)	4						TGCGCCTCGACGCTCTTTACC	0.637											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	202900173	C	T	202900173	3	4	94	1	0	0	0	0	1	0	0	0	6135	536	19	1	805	1	FZD7	2	202900173	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	312090	202900173	40299200	556	59689											
PARD3B	117583	broad.mit.edu	37	chr2	206166298	206166299	+	Frame_Shift_Ins	INS	-	-	A													aaataaagccaggaaagtcaINSaaaaaacgaaagagaaggag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:206166297_206166298C>CA	uc002var.2	+	17	2709_2710	c.2502_2503C>CA	c.(2500-2505)gtcaaafs	p.V834fs	PARD3B_uc010fub.2_Frame_Shift_Ins_p.V834fs|PARD3B_uc002vao.2_Frame_Shift_Ins_p.V834fs|PARD3B_uc002vap.2_Frame_Shift_Ins_p.V772fs|PARD3B_uc002vaq.2_Frame_Shift_Ins_p.V765fs	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	834	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction		p.T776fs*13(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCAGGAAAGTCAAAAAAACgaa	0.426													A	206166299	-	A	206166298	7	5	94	1	0	1	1	0	0	0	0	0	11444	131	5	0	2573	0	PARD3B	2	206166298	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	3266125	206166298	37033075	557	59690											
ZDBF2	57683	broad.mit.edu	37	chr2	207172565	207172565	+	Frame_Shift_Del	DEL	A	A	-													aggaagaggttattggcctgAaaaataagattaatgaacct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:207172565delA	uc002vbp.2	+	5	3563	c.3313delA	c.(3313-3315)AAAfs	p.K1105fs		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1105	Potential.						nucleic acid binding|zinc ion binding			ovary(3)	3						TATTGGCCTGAAAAATAAGAT	0.328													-	207172565	A	-	207172565	7	5	94	1	0	1	0	1	0	0	0	0	17596	247	9	0	3323	0	ZDBF2	2	207172565	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	1006267	207172565	36026808	558	59691											
CRYGB	1419	broad.mit.edu	37	chr2	209007411	209007411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaactttggcatttggaGccccccaatcaagaaacctc	7	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:209007411G>A	uc002vcp.3	-	3	512	c.479C>T	c.(478-480)GCT>GTT	p.A160V		NM_005210	NP_005201	P07316	CRGB_HUMAN	crystallin, gamma B	160	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens				0				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		GGCATTTGGAGCCCCCCAATC	0.468													A	209007411	G	A	209007411	3	1	94	1	0	0	0	0	1	0	0	0	3915	971	34	2	52	2	CRYGB	2	209007411	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1834846	209007411	34191962	559	59692											
IDH1	3417	broad.mit.edu	37	chr2	209110079	209110079	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtatgtcaccttttgggTtccgtcacttggtgtgtagg	13	8	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:209110079T>C	uc002vcs.2	-	5	730	c.484A>G	c.(484-486)ACC>GCC	p.T162A	IDH1_uc002vct.2_Missense_Mutation_p.T162A|IDH1_uc002vcu.2_Missense_Mutation_p.T162A	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	162					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ACCTTTTGGGTTCCGTCACTT	0.348			Mis		gliobastoma 								C	209110079	T	C	209110079	3	2	94	1	0	0	0	0	1	0	0	0	7494	1725	60	3	784	3	IDH1	2	209110079	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	102668	209110079	34089294	560	59693											
PIKFYVE	200576	broad.mit.edu	37	chr2	209204275	209204275	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagatacagccagcagttcCgaaggtagaggttaagtcac	11	9	1	2	rs143759936	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:209204275C>T	uc002vcz.2	+	30	4964	c.4806C>T	c.(4804-4806)TCC>TCT	p.S1602S		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1602					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						CCAGCAGTTCCGAAGGTAGAG	0.383													T	209204275	C	T	209204275	2	4	94	1	0	0	0	0	0	0	0	1	11924	639	23	1		1	PIKFYVE	2	209204275	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	94196	209204275	33995098	561	59694											
RPE	6120	broad.mit.edu	37	chr2	210881345	210881345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttggagggcagaaattcAtggaagatatgatgccaaag	14	4	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:210881345A>G	uc002vdn.2	+	4	462	c.457A>G	c.(457-459)ATG>GTG	p.M153V	RPE_uc002vdm.2_Missense_Mutation_p.M153V|RPE_uc002vdo.2_Missense_Mutation_p.M103V|RPE_uc010zjf.1_Missense_Mutation_p.M153V|RPE_uc002vdp.2_Missense_Mutation_p.M100V|RPE_uc010fup.2_Missense_Mutation_p.M85V|RPE_uc002vdq.2_Missense_Mutation_p.M103V|RPE_uc002vdr.2_Intron	NM_199229	NP_954699	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase isoform 1	153					pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity				0				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		GCAGAAATTCATGGAAGATAT	0.408													G	210881345	A	G	210881345	3	3	94	1	0	0	0	0	1	0	0	0	13544	217	8	3	529	3	RPE	2	210881345	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1677070	210881345	32318028	562	59695											
ABCA12	26154	broad.mit.edu	37	chr2	215866295	215866295	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttacttccaaagagttcGttgcttttgtagagcctttt	7	9	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:215866295G>A	uc002vew.2	-	21	3070	c.2850C>T	c.(2848-2850)AAC>AAT	p.N950N	ABCA12_uc002vev.2_Silent_p.N632N|ABCA12_uc010zjn.1_Translation_Start_Site	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	950					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAAAGAGTTCGTTGCTTTTGT	0.383													A	215866295	G	A	215866295	2	1	94	1	0	0	0	0	0	0	0	1	30	1136	40	1		1	ABCA12	2	215866295	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4984950	215866295	27333078	563	59696											
FN1	2335	broad.mit.edu	37	chr2	216292965	216292965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctcctcggccgttgcctGtgcagatgcactggagcagg	13	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:216292965G>A	uc002vfa.2	-	6	1048	c.782C>T	c.(781-783)ACA>ATA	p.T261I	FN1_uc002vfb.2_Missense_Mutation_p.T261I|FN1_uc002vfc.2_Missense_Mutation_p.T261I|FN1_uc002vfd.2_Missense_Mutation_p.T261I|FN1_uc002vfe.2_Missense_Mutation_p.T261I|FN1_uc002vff.2_Missense_Mutation_p.T261I|FN1_uc002vfg.2_Missense_Mutation_p.T261I|FN1_uc002vfh.2_Missense_Mutation_p.T261I|FN1_uc002vfi.2_Missense_Mutation_p.T261I|FN1_uc002vfj.2_Missense_Mutation_p.T261I|FN1_uc002vfl.2_Missense_Mutation_p.T261I	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	261	Fibrin- and heparin-binding 1.|Fibronectin type-I 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCGTTGCCTGTGCAGATGCA	0.552													A	216292965	G	A	216292965	3	1	94	1	0	0	0	0	1	0	0	0	5962	1377	48	4	6848	4	FN1	2	216292965	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	426670	216292965	26906408	564	59697											
XRCC5	7520	broad.mit.edu	37	chr2	216992351	216992351	+	Frame_Shift_Del	DEL	A	A	-													aaagaaacagtttattgcttAaatgatgatgatgaaactga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:216992351delA	uc002vfy.2	+	8	1031	c.891delA	c.(889-891)TTAfs	p.L297fs	XRCC5_uc002vfz.2_Frame_Shift_Del_p.L183fs	NM_021141	NP_066964	P13010	XRCC5_HUMAN	ATP-dependent DNA helicase II	297	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			lung(1)|kidney(1)	2		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TTTATTGCTTAAATGATGATG	0.303								Direct_reversal_of_damage|NHEJ					-	216992351	A	-	216992351	7	5	94	1	0	1	0	1	0	0	0	0	17453	359	13	0	921	0	XRCC5	2	216992351	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	699386	216992351	26207022	565	59698											
XRCC5	7520	broad.mit.edu	37	chr2	217069075	217069075	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccaaagacaaaccaagtggaGacacagcagctgtatttgaa	9	9	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:217069075G>A	uc002vfy.2	+	20	2280	c.2140G>A	c.(2140-2142)GAC>AAC	p.D714N	XRCC5_uc002vfz.2_Missense_Mutation_p.D600N	NM_021141	NP_066964	P13010	XRCC5_HUMAN	ATP-dependent DNA helicase II	714					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			lung(1)|kidney(1)	2		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		ACCAAGTGGAGACACAGCAGC	0.398								Direct_reversal_of_damage|NHEJ					A	217069075	G	A	217069075	3	1	94	1	0	0	0	0	1	0	0	0	17453	942	33	4	2218	4	XRCC5	2	217069075	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	76724	217069075	26130298	566	59699											
IGFBP2	3485	broad.mit.edu	37	chr2	217525351	217525351	+	Frame_Shift_Del	DEL	G	G	-													gcaccatgaacatgttgggcGggggaggcagtgctggccgg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:217525351delG	uc010zjt.1	+	4	643	c.493delG	c.(493-495)GGGfs	p.G165fs	IGFBP2_uc010zju.1_Frame_Shift_Del_p.G100fs	NM_000597	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2,	172					positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding				0		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CATGTTGGGCGGGGGAGGCAG	0.607													-	217525351	G	-	217525351	7	5	94	1	0	1	0	1	0	0	0	0	7579	1116	39	0	520	0	IGFBP2	2	217525351	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	456276	217525351	25674022	567	59700											
IGFBP2	3485	broad.mit.edu	37	chr2	217526674	217526674	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctggagcacctctactccCtgcacatccccaactgtgac	6	18	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:217526674C>A	uc010zjt.1	+	5	895	c.745C>A	c.(745-747)CTG>ATG	p.L249M	IGFBP2_uc010zju.1_3'UTR	NM_000597	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2,	256	Thyroglobulin type-1.				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding				0		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CCTCTACTCCCTGCACATCCC	0.637													A	217526674	C	A	217526674	3	1	94	1	0	0	0	0	1	0	0	0	7579	680	24	5	776	5	IGFBP2	2	217526674	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1323	217526674	25672699	568	59701											
TNS1	7145	broad.mit.edu	37	chr2	218713553	218713553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaggcggtccagctcccGcttctcctggggactcaagg	13	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:218713553G>A	uc002vgt.2	-	17	1710	c.1312C>T	c.(1312-1314)CGG>TGG	p.R438W	TNS1_uc002vgr.2_Missense_Mutation_p.R438W|TNS1_uc002vgs.2_Missense_Mutation_p.R438W|TNS1_uc010zjv.1_Missense_Mutation_p.R438W|TNS1_uc010fvj.1_Missense_Mutation_p.R506W|TNS1_uc010fvk.1_Missense_Mutation_p.R563W|TNS1_uc010fvi.1_Missense_Mutation_p.R125W	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	438						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCCAGCTCCCGCTTCTCCTGG	0.662													A	218713553	G	A	218713553	3	1	94	1	0	0	0	0	1	0	0	0	16340	1086	38	1	3963	1	TNS1	2	218713553	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1186879	218713553	24485820	569	59702											
VIL1	7429	broad.mit.edu	37	chr2	219301231	219301231	+	Frame_Shift_Del	DEL	C	C	-													ggaagaaaacctggtcatcaCcccccggctctttgagtgtt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:219301230_219301230AC>A	uc002vib.3	+	14	1874	c.1852_1852AC>A	c.(1852-1854)accfs	p.T618fs	VIL1_uc010zke.2_Frame_Shift_Del_p.T307fs|VIL1_uc002via.3_Frame_Shift_Del_p.T618fs	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	618	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGGTCATCACCCCCCGGCT	0.502													-	219301231	C	-	219301231	7	5	94	1	0	1	0	1	0	0	0	0	17161	507	18	0	1911	0	VIL1	2	219301231	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	587678	219301231	23898142	570	59703											
ZNF142	7701	broad.mit.edu	37	chr2	219506825	219506825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttccccagtgtggatgcGgctgtgccaggtgatcttct	12	11	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:219506825G>A	uc002vin.2	-	8	4850	c.4414C>T	c.(4414-4416)CGC>TGC	p.R1472C	ZNF142_uc002vil.2_Missense_Mutation_p.R1433C|ZNF142_uc010fvt.2_Missense_Mutation_p.R1309C|ZNF142_uc002vim.2_Missense_Mutation_p.R1309C	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	1472	C2H2-type 25.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GTGTGGATGCGGCTGTGCCAG	0.507													A	219506825	G	A	219506825	3	1	94	1	0	0	0	0	1	0	0	0	17728	1116	39	1	661	1	ZNF142	2	219506825	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	205594	219506825	23692548	571	59704											
WNT10A	80326	broad.mit.edu	37	chr2	219757584	219757584	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggcaggtgacgcccgAgttccgcaccgtgggggcgc	18	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:219757584A>T	uc002vjd.1	+	4	1308	c.845A>T	c.(844-846)GAG>GTG	p.E282V		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family,	282					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			lung(1)|skin(1)	2		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGACGCCCGAGTTCCGCACC	0.652													T	219757584	A	T	219757584	3	4	94	1	0	0	0	0	1	0	0	0	17379	304	11	5	859	5	WNT10A	2	219757584	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	250759	219757584	23441789	572	59705											
CCDC108	255101	broad.mit.edu	37	chr2	219878669	219878669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatggagaagaggcaattgtCctgcacgcgcatctggtgga	15	8	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:219878669C>T	uc002vjl.1	-	22	3784	c.3700G>A	c.(3700-3702)GAC>AAC	p.D1234N		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1234						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGCAATTGTCCTGCACGCGC	0.582													T	219878669	C	T	219878669	3	4	94	1	0	0	0	0	1	0	0	0	2743	855	30	4	2133	4	CCDC108	2	219878669	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	121085	219878669	23320704	573	59706											
CCDC108	255101	broad.mit.edu	37	chr2	219900228	219900228	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcttctggagtttcaaGgatcgatttttcagaaccag	8	8	5	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:219900228G>T	uc002vjl.1	-	5	600	c.516C>A	c.(514-516)TCC>TCA	p.S172S	CCDC108_uc010zkp.1_Silent_p.S161S|CCDC108_uc010zkq.1_Silent_p.S107S|CCDC108_uc002vjn.2_Silent_p.S107S	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	172						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGTTTCAAGGATCGATTTT	0.488													T	219900228	G	T	219900228	2	4	94	1	0	0	0	0	0	0	0	1	2743	987	35	5		5	CCDC108	2	219900228	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	21559	219900228	23299145	574	59707											
NHEJ1	79840	broad.mit.edu	37	chr2	220012447	220012447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcatatgaagtaacgttGctagctccctcacttggcac	7	12	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:220012447G>A	uc002vjp.3	-	4	607	c.461C>T	c.(460-462)GCA>GTA	p.A154V	NHEJ1_uc002vjq.3_RNA	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	154					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			lung(1)	1		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		AAGTAACGTTGCTAGCTCCCT	0.483								Direct_reversal_of_damage|NHEJ					A	220012447	G	A	220012447	3	1	94	1	0	0	0	0	1	0	0	0	10402	1319	46	2	458	2	NHEJ1	2	220012447	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	112219	220012447	23186926	575	59708											
SPEG	10290	broad.mit.edu	37	chr2	220337025	220337026	+	Frame_Shift_Ins	INS	-	-	C													tggtcacactcacatggaacINSccccccaggagtctggacat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:220337024_220337025A>AC	uc010fwg.3	+	14	3911_3912	c.3911_3912A>AC	c.(3910-3912)aacfs	p.N1304fs		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1304	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTCACATGGAACCCCCCCAGGA	0.644													C	220337026	-	C	220337025	7	5	94	1	0	1	1	0	0	0	0	0	15035	506	18	0	3982	0	SPEG	2	220337025	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	324578	220337025	22862348	576	59709											
SPEG	10290	broad.mit.edu	37	chr2	220349122	220349122	+	Frame_Shift_Del	DEL	C	C	-													aagcccgagttcccacggtgCcccccaggccaggcagcagt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:220349122delC	uc010fwg.2	+	30	6937	c.6937delC	c.(6937-6939)CCCfs	p.P2313fs		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2313	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCCCACGGTGCCCCCCAGGCC	0.692													-	220349122	C	-	220349122	7	5	94	1	0	1	0	1	0	0	0	0	15035	739	26	0	7067	0	SPEG	2	220349122	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	12097	220349122	22850251	577	59710											
CHPF	79586	broad.mit.edu	37	chr2	220404387	220404387	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgggctgccacatagtcGgagttgtagaagcaggcctc	13	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:220404387G>A	uc002vmc.3	-	4	2273	c.2046C>T	c.(2044-2046)TCC>TCT	p.S682S	CHPF_uc010zlh.1_Silent_p.S520S	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	682	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding				0		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCACATAGTCGGAGTTGTAGA	0.647													A	220404387	G	A	220404387	2	1	94	1	0	0	0	0	0	0	0	1	3368	1103	39	1		1	CHPF	2	220404387	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	55265	220404387	22794986	578	59711											
CHPF	79586	broad.mit.edu	37	chr2	220406868	220406868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggtcagcaccgccaccaGcagcctctgcctgatgccca	10	17	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:220406868G>A	uc002vmc.3	-	2	585	c.358C>T	c.(358-360)CTG>TTG	p.L120L	CHPF_uc010zlh.1_5'UTR|CHPF_uc002vmd.3_Silent_p.L120L|TMEM198_uc002vme.2_5'Flank|TMEM198_uc002vmf.2_5'Flank	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	120	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding				0		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		ACCGCCACCAGCAGCCTCTGC	0.677											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	220406868	G	A	220406868	2	1	94	1	0	0	0	0	0	0	0	1	3368	962	34	2		2	CHPF	2	220406868	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2481	220406868	22792505	579	59712											
CCDC140	151278	broad.mit.edu	37	chr2	223168661	223168661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccagatctcctcgctgagCctggaagctcgccaccgtgg	11	16	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:223168661C>T	uc002vnb.1	+	2	424	c.40C>T	c.(40-42)CCT>TCT	p.P14S		NM_153038	NP_694583	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	14											0		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCGCTGAGCCTGGAAGCTC	0.562													T	223168661	C	T	223168661	3	4	94	1	0	0	0	0	1	0	0	0	2774	739	26	2	42	2	CCDC140	2	223168661	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2761793	223168661	20030712	580	59713											
ACSL3	2181	broad.mit.edu	37	chr2	223791735	223791735	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctaatttttttctttagCtttgttttccggaaagttcg	6	7	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:223791735C>T	uc002vni.2	+	12	1744	c.1293C>T	c.(1291-1293)AGC>AGT	p.S431S	ACSL3_uc002vnj.2_Silent_p.S431S	NM_004457	NP_004448	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	431	Cytoplasmic (Potential).				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			ovary(2)	2		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTTCTTTAGCTTTGTTTTCC	0.259			T	ETV1	prostate								T	223791735	C	T	223791735	2	4	94	1	0	0	0	0	0	0	0	1	178	811	28	2		2	ACSL3	2	223791735	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	623074	223791735	19407638	581	59714											
WDFY1	57590	broad.mit.edu	37	chr2	224765909	224765909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgaaggatactgcagacacGaagcccaggacgtgaagaag	13	9	0	4	rs149201768		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:224765909G>A	uc002vnq.2	-	5	527	c.476C>T	c.(475-477)TCG>TTG	p.S159L		NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	159	WD 4.					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			lung(1)	1		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CTGCAGACACGAAGCCCAGGA	0.557													A	224765909	G	A	224765909	3	1	94	1	0	0	0	0	1	0	0	0	17265	1059	37	1	788	1	WDFY1	2	224765909	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	974174	224765909	18433464	582	59715											
KIAA1486	57624	broad.mit.edu	37	chr2	226446794	226446794	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcatgggccccggaggacgTcgctgccgcgggactcctcc	15	16	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:226446794T>C	uc002voe.2	+	4	836	c.661T>C	c.(661-663)TCG>CCG	p.S221P	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_5'UTR	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	221										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		CCGGAGGACGTCGCTGCCGCG	0.582													C	226446794	T	C	226446794	3	2	94	1	0	0	0	0	1	0	0	0	8237	1667	58	3	671	3	KIAA1486	2	226446794	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1680885	226446794	16752579	583	59716											
KIAA1486	57624	broad.mit.edu	37	chr2	226447029	226447029	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcgcagtgtgctactcCcacggtgcctgacttggact	10	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:226447029C>A	uc002voe.2	+	4	1071	c.896C>A	c.(895-897)CCC>CAC	p.P299H	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.P69H	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	299										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		TGTGCTACTCCCACGGTGCCT	0.577													A	226447029	C	A	226447029	3	1	94	1	0	0	0	0	1	0	0	0	8237	623	22	5	906	5	KIAA1486	2	226447029	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	235	226447029	16752344	584	59717											
IRS1	3667	broad.mit.edu	37	chr2	227659841	227659841	+	Frame_Shift_Del	DEL	G	G	-													ccaggggttgatgagggggtGggggtgggggaggctgcggt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:227659840_227659840TG>T	uc021vxn.1	-	0	3615	c.3615_3615CA>A	c.(3613-3615)ccafs	p.P1205fs	IRS1_uc002voh.4_Frame_Shift_Del_p.P1205fs	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	1205	Pro-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.P1205A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GATGAGGGGGTGGGGGTGGGG	0.577													-	227659841	G	-	227659841	7	5	94	1	0	1	0	1	0	0	0	0	7840	1348	47	0	118	0	IRS1	2	227659841	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	1212812	227659841	15539532	585	59718											
IRS1	3667	broad.mit.edu	37	chr2	227662195	227662195	+	Frame_Shift_Del	DEL	G	G	-													gagatgaaaccgccatcgctGggggaaccagacaccgaagc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:227662195delG	uc002voh.3	-	1	1312	c.1260delC	c.(1258-1260)CCCfs	p.P420fs		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	420	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CGCCATCGCTGGGGGAACCAG	0.612											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	227662195	G	-	227662195	7	5	94	1	0	1	0	1	0	0	0	0	7840	1335	47	0	2472	0	IRS1	2	227662195	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	2354	227662195	15537178	586	59719											
PID1	55022	broad.mit.edu	37	chr2	230020598	230020598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacagctcaatggcctccGgctcatggaagatgaccgct	11	13	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:230020598G>A	uc002vpr.3	-	2	250	c.212C>T	c.(211-213)CCG>CTG	p.P71L	PID1_uc002vps.3_Missense_Mutation_p.P69L|PID1_uc002vpt.3_Missense_Mutation_p.P38L|PID1_uc002vpu.3_Intron	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	71						cytoplasm				breast(3)|skin(1)	4		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		AATGGCCTCCGGCTCATGGAA	0.507													A	230020598	G	A	230020598	3	1	94	1	0	0	0	0	1	0	0	0	11882	1116	39	1	548	1	PID1	2	230020598	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2358403	230020598	13178775	587	59720											
TRIP12	9320	broad.mit.edu	37	chr2	230668408	230668408	+	Splice_Site	DEL	A	A	-													agcatggaagcaatgtgactAaaaaaagaaagcatttgtat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:230668407_230668407TA>T	uc002vpx.1	-	20	2908	c.2799_splice	c.e20-1	p.S933_splice	TRIP12_uc021vxw.1_Splice_Site_p.S918_splice|TRIP12_uc002vpy.1_Splice_Site_p.S615_splice|TRIP12_uc002vpw.1_Splice_Site_p.S885_splice|TRIP12_uc010zlz.1_Intron	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	885					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GCAATGTGACTAAAAAAAGAA	0.343													-	230668408	A	-	230668408	8	5	94	1	0	1	0	1	0	0	1	0	16553	377	13	0		0	TRIP12	2	230668408	Splice_Site	DEL	A	TCGA-BR-8487-01A-11D-2394-08	647810	230668408	12530965	588	59721											
SLC16A14	151473	broad.mit.edu	37	chr2	230910788	230910788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgacgtcagagggaaaaCgtcgttttgctccgataagt	11	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:230910788C>T	uc002vqd.1	-	4	1417	c.1054G>A	c.(1054-1056)GTT>ATT	p.V352I	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.V352I|SLC16A14_uc002vqf.2_Missense_Mutation_p.V352I	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	352	Cytoplasmic (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		AGAGGGAAAACGTCGTTTTGC	0.418													T	230910788	C	T	230910788	3	4	94	1	0	0	0	0	1	0	0	0	14407	536	19	1	486	1	SLC16A14	2	230910788	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	242380	230910788	12288585	589	59722											
ALPI	248	broad.mit.edu	37	chr2	233322328	233322328	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccatggggaccccagacccTgagtacccagctgatgccag	11	16	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:233322328T>G	uc002vst.3	+	6	779	c.702T>G	c.(700-702)CCT>CCG	p.P234P	ALPI_uc002vsu.3_Silent_p.P145P	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	234					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCCCAGACCCTGAGTACCCAG	0.622													G	233322328	T	G	233322328	2	3	94	1	0	0	0	0	0	0	0	1	543	1567	55	5		5	ALPI	2	233322328	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2411540	233322328	9877045	590	59723											
CHRND	1144	broad.mit.edu	37	chr2	233394699	233394699	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggccagggtcaacgtggacCccagagcccctctggacagc	13	16	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:233394699C>A	uc002vsw.2	+	7	674	c.670C>A	c.(670-672)CCC>ACC	p.P224T	CHRND_uc010zmg.1_Missense_Mutation_p.P209T|CHRND_uc010fyc.2_Missense_Mutation_p.P97T|CHRND_uc010zmh.1_Intron	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	224	Extracellular (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)|skin(1)	3		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CAACGTGGACCCCAGAGCCCC	0.632													A	233394699	C	A	233394699	3	1	94	1	0	0	0	0	1	0	0	0	3394	623	22	5	696	5	CHRND	2	233394699	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	72371	233394699	9804674	591	59724											
DGKD	8527	broad.mit.edu	37	chr2	234343475	234343475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggtacgcctgttcccacGcgaggccgacctactgcaat	10	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:234343475G>A	uc002vui.1	+	5	526	c.514G>A	c.(514-516)GCG>ACG	p.A172T	DGKD_uc002vuj.1_Missense_Mutation_p.A128T|DGKD_uc010fyh.1_Missense_Mutation_p.A39T|DGKD_uc002vuk.1_Missense_Mutation_p.A39T	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	172	Phorbol-ester/DAG-type 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CTGTTCCCACGCGAGGCCGAC	0.562													A	234343475	G	A	234343475	3	1	94	1	0	0	0	0	1	0	0	0	4467	1087	38	1	556	1	DGKD	2	234343475	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	948776	234343475	8855898	592	59725											
USP40	55230	broad.mit.edu	37	chr2	234394560	234394560	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgttccacaccaggtccagGgcaggggcataggtcctctc	13	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:234394560G>T	uc010zmr.1	-	28	3294	c.3294C>A	c.(3292-3294)GCC>GCA	p.A1098A	USP40_uc002vul.2_Silent_p.A82A|USP40_uc010zms.1_Silent_p.A196A	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	ubiquitin thioesterase 40	1086					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)|breast(1)	3		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CCAGGTCCAGGGCAGGGGCAT	0.597													T	234394560	G	T	234394560	2	4	94	1	0	0	0	0	0	0	0	1	17069	1219	43	5		5	USP40	2	234394560	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	51085	234394560	8804813	593	59726											
UGT1A9	54600	broad.mit.edu	37	chr2	234581202	234581202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactttcaaggagagagtaCggaaccacatcatgcacttg	10	9	2	2	rs111861762	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:234581202C>T	uc002vus.2	+	1	659	c.622C>T	c.(622-624)CGG>TGG	p.R208W	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.R208W	NM_021027	NP_066307	O60656	UD19_HUMAN	UDP glycosyltransferase 1 family, polypeptide A9	208					drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding			ovary(3)|breast(1)|skin(1)	5		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398)	GGAGAGAGTACGGAACCACAT	0.448													T	234581202	C	T	234581202	3	4	94	1	0	0	0	0	1	0	0	0	16949	527	19	1	624	1	UGT1A9	2	234581202	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	186642	234581202	8618171	594	59727											
SH3BP4	23677	broad.mit.edu	37	chr2	235950198	235950198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caagtccgatgctcccacatCgtcgagtttcttcaccggct	8	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:235950198C>T	uc002vvp.2	+	4	1178	c.785C>T	c.(784-786)TCG>TTG	p.S262L	SH3BP4_uc010fym.2_Missense_Mutation_p.S262L|SH3BP4_uc002vvq.2_Missense_Mutation_p.S262L	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	262					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GCTCCCACATCGTCGAGTTTC	0.592													T	235950198	C	T	235950198	3	4	94	1	0	0	0	0	1	0	0	0	14246	893	31	1	791	1	SH3BP4	2	235950198	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1368996	235950198	7249175	595	59728											
SH3BP4	23677	broad.mit.edu	37	chr2	235962450	235962450	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcggaccaggacgactTcgtgatttgaatgggtcccc	12	13	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:235962450T>C	uc002vvp.2	+	6	3275	c.2882T>C	c.(2881-2883)TTC>TCC	p.F961S	SH3BP4_uc010fym.2_Missense_Mutation_p.F943S|SH3BP4_uc002vvq.2_Missense_Mutation_p.F961S	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	961					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CAGGACGACTTCGTGATTTGA	0.612													C	235962450	T	C	235962450	3	2	94	1	0	0	0	0	1	0	0	0	14246	1783	62	3	2896	3	SH3BP4	2	235962450	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	12252	235962450	7236923	596	59729											
AGAP1	116987	broad.mit.edu	37	chr2	236877211	236877211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgccaacagaaagaagcaccGaaggaagaaaagcactagca	10	10	0	3	rs3207207		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:236877211G>A	uc002vvs.2	+	13	2184	c.1589G>A	c.(1588-1590)CGA>CAA	p.R530Q	AGAP1_uc002vvt.2_Missense_Mutation_p.R477Q	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	530	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						AAGAAGCACCGAAGGAAGAAA	0.627													A	236877211	G	A	236877211	3	1	94	1	0	0	0	0	1	0	0	0	366	1058	37	1	1639	1	AGAP1	2	236877211	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	914761	236877211	6322162	597	59730											
AGAP1	116987	broad.mit.edu	37	chr2	237032729	237032729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaggagaaacaataaccGgaacaacagcagtgggaggg	14	8	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:237032729G>A	uc002vvs.2	+	18	3132	c.2537G>A	c.(2536-2538)CGG>CAG	p.R846Q	AGAP1_uc002vvt.2_Missense_Mutation_p.R793Q	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	846					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						AACAATAACCGGAACAACAGC	0.647													A	237032729	G	A	237032729	3	1	94	1	0	0	0	0	1	0	0	0	366	1116	39	1	2607	1	AGAP1	2	237032729	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	155518	237032729	6166644	598	59731											
GBX2	2637	broad.mit.edu	37	chr2	237074930	237074930	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtctcctccagcgcgtggCccgggtcttcctccttgtga	13	15	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:237074930C>A	uc002vvw.1	-	2	712	c.674G>T	c.(673-675)GGC>GTC	p.G225V	GBX2_uc010zng.1_3'UTR	NM_001485	NP_001476	P52951	GBX2_HUMAN	gastrulation brain homeo box 2	225				QAAHKEEDPGHALEETPPSSGA -> PGSSQGGRPGPRGGG DPAEQRR (in Ref. 6).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CAGCGCGTGGCCCGGGTCTTC	0.677													A	237074930	C	A	237074930	3	1	94	1	0	0	0	0	1	0	0	0	6281	739	26	5	376	5	GBX2	2	237074930	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	42201	237074930	6124443	599	59732											
CXCR7	57007	broad.mit.edu	37	chr2	237489698	237489698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaatgagacctactgccGgtccttctaccccgagcaca	7	16	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:237489698G>A	uc010fyq.2	+	3	820	c.590G>A	c.(589-591)CGG>CAG	p.R197Q	CXCR7_uc002vwd.2_Missense_Mutation_p.R197Q	NM_020311	NP_064707	P25106	CXCR7_HUMAN	chemokine orphan receptor 1	197	Extracellular (Potential).				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		ACCTACTGCCGGTCCTTCTAC	0.577													A	237489698	G	A	237489698	3	1	94	1	0	0	0	0	1	0	0	0	4096	1116	39	1	592	1	CXCR7	2	237489698	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	414768	237489698	5709675	600	59733											
RBM44	375316	broad.mit.edu	37	chr2	238725800	238725801	+	Frame_Shift_Ins	INS	-	-	T													aatggatttattagagccatINSttttttcagtgagtcaagat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:238725799_238725800A>AT	uc002vxi.4	+	2	372_373	c.240_241A>AT	c.(238-243)ccatttfs	p.P80fs		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	79							RNA binding|nucleotide binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TATTAGAGCCATTTTTTTCAGT	0.332													T	238725801	-	T	238725800	7	5	94	1	0	1	1	0	0	0	0	0	13138	1493	52	0	247	0	RBM44	2	238725800	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1236102	238725800	4473573	601	59734											
ESPNL	339768	broad.mit.edu	37	chr2	239040005	239040005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcgccacctgctgtgcttcGaggtcttcgagcacctgggc	13	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:239040005G>A	uc002vxq.3	+	9	2760	c.2650G>A	c.(2650-2652)GAG>AAG	p.E884K	ESPNL_uc010fyw.2_Missense_Mutation_p.E580K	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	884										pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCTGTGCTTCGAGGTCTTCGA	0.687													A	239040005	G	A	239040005	3	1	94	1	0	0	0	0	1	0	0	0	5255	1059	37	1	2684	1	ESPNL	2	239040005	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	314205	239040005	4159368	602	59735											
TRAF3IP1	26146	broad.mit.edu	37	chr2	239234538	239234538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgttggccaaaccagcccGaatcgtggcggggcatgagc	14	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:239234538G>A	uc002vye.2	+	3	400	c.281G>A	c.(280-282)CGA>CAA	p.R94Q	TRAF3IP1_uc002vyf.2_Missense_Mutation_p.R94Q	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting	94	Abolishes microtubules-binding when missing.					cytoplasm|cytoskeleton	protein binding			ovary(1)	1		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		AAACCAGCCCGAATCGTGGCG	0.468													A	239234538	G	A	239234538	3	1	94	1	0	0	0	0	1	0	0	0	16437	1058	37	1	291	1	TRAF3IP1	2	239234538	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	194533	239234538	3964835	603	59736											
HDAC4	9759	broad.mit.edu	37	chr2	240002823	240002823	+	Frame_Shift_Del	DEL	G	G	-													aagtactcagcgtctcccatGggggggtccaggccgccggt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:240002823delG	uc002vyk.3	-	22	3495	c.2703delC	c.(2701-2703)CCCfs	p.P901fs	HDAC4_uc010fyy.2_Frame_Shift_Del_p.P858fs	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	901	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CGTCTCCCATGGGGGGGTCCA	0.602													-	240002823	G	-	240002823	7	5	94	1	0	1	0	1	0	0	0	0	7009	1335	47	0	575	0	HDAC4	2	240002823	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	768285	240002823	3196550	604	59737											
ANKMY1	51281	broad.mit.edu	37	chr2	241459824	241459824	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgccccgtgctccagcagCagcctcaccccatccacgtc	7	22	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:241459824C>T	uc002vyz.1	-	8	1921	c.1692G>A	c.(1690-1692)CTG>CTA	p.L564L	ANKMY1_uc002vza.1_Silent_p.L423L|ANKMY1_uc010fzd.1_Silent_p.L653L|ANKMY1_uc002vzb.1_Silent_p.L325L|ANKMY1_uc002vzc.1_Silent_p.L423L|ANKMY1_uc002vzd.1_Silent_p.L423L	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	564	ANK 3.						zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GCTCCAGCAGCAGCCTCACCC	0.612													T	241459824	C	T	241459824	2	4	94	1	0	0	0	0	0	0	0	1	634	697	25	2		2	ANKMY1	2	241459824	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1457001	241459824	1739549	605	59738											
ANKMY1	51281	broad.mit.edu	37	chr2	241463539	241463539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcccgctttccacatggCcaaggctgcccttcaccaac	7	18	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:241463539C>T	uc002vyz.1	-	7	1557	c.1328G>A	c.(1327-1329)GGC>GAC	p.G443D	ANKMY1_uc002vza.1_Missense_Mutation_p.G302D|ANKMY1_uc010fzd.1_Missense_Mutation_p.G532D|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Missense_Mutation_p.G302D|ANKMY1_uc002vzd.1_Missense_Mutation_p.G302D|ANKMY1_uc010fze.1_Missense_Mutation_p.G112D|ANKMY1_uc002vze.2_Missense_Mutation_p.G204D	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	443							zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TTCCACATGGCCAAGGCTGCC	0.612													T	241463539	C	T	241463539	3	4	94	1	0	0	0	0	1	0	0	0	634	739	26	2	1541	2	ANKMY1	2	241463539	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3715	241463539	1735834	606	59739											
PASK	23178	broad.mit.edu	37	chr2	242066644	242066644	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacacaggccacacatgccAgcatcactgcccccatcctc	6	19	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:242066644A>G	uc002wao.1	-	10	1778	c.1686T>C	c.(1684-1686)GCT>GCC	p.A562A	PASK_uc010zol.1_Silent_p.A376A|PASK_uc010zom.1_Silent_p.A527A|PASK_uc010fzl.1_Silent_p.A562A|PASK_uc010zon.1_Silent_p.A343A|PASK_uc002wap.2_Silent_p.A105A|PASK_uc002waq.2_Silent_p.A562A	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	562					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CACACATGCCAGCATCACTGC	0.597													G	242066644	A	G	242066644	2	3	94	1	0	0	0	0	0	0	0	1	11472	175	7	3		3	PASK	2	242066644	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	603105	242066644	1132729	607	59740											
PPP1R7	5510	broad.mit.edu	37	chr2	242105824	242105824	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgtaccttagccacaatGgcatcgaggtcatcgagggc	12	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:242105824G>T	uc002wat.1	+	8	802	c.787G>T	c.(787-789)GGC>TGC	p.G263C	PPP1R7_uc010fzm.1_Missense_Mutation_p.G247C|PPP1R7_uc002war.2_Missense_Mutation_p.G257C|PPP1R7_uc002was.2_Missense_Mutation_p.G263C|PPP1R7_uc002wau.1_Missense_Mutation_p.G220C|PPP1R7_uc002wav.1_Missense_Mutation_p.G189C	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	263	LRR 9.					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			ovary(3)	3		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TAGCCACAATGGCATCGAGGT	0.612													T	242105824	G	T	242105824	3	4	94	1	0	0	0	0	1	0	0	0	12376	1348	47	5	817	5	PPP1R7	2	242105824	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	39180	242105824	1093549	608	59741											
THAP4	51078	broad.mit.edu	37	chr2	242545825	242545825	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtcccggctccaggtgggTccgacagccaggtgcccagc	15	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:242545825T>C	uc002wbt.2	-	3	1527	c.1304A>G	c.(1303-1305)GAC>GGC	p.D435G	THAP4_uc002wbs.2_Missense_Mutation_p.D23G	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	THAP domain containing 4 isoform 1	435							DNA binding|metal ion binding				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TCCAGGTGGGTCCGACAGCCA	0.602													C	242545825	T	C	242545825	3	2	94	1	0	0	0	0	1	0	0	0	15843	1667	58	3	445	3	THAP4	2	242545825	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	440001	242545825	653548	609	59742											
CNTN6	27255	broad.mit.edu	37	chr3	1363376	1363376	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggttggacgggagcccGttgccagggaaagtcaagta	16	7	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:1363376G>A	uc003boz.2	+	8	1071	c.804G>A	c.(802-804)CCG>CCA	p.P268P	CNTN6_uc011asj.1_Silent_p.P196P|CNTN6_uc003bpa.2_Silent_p.P268P	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	268	Ig-like C2-type 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ACGGGAGCCCGTTGCCAGGGA	0.433													A	1363376	G	A	1363376	2	1	94	1	0	0	0	0	0	0	0	1	3645	1132	40	1		1	CNTN6	3	1363376	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08		1363376	196659054	610	59743											
GRM7	2917	broad.mit.edu	37	chr3	7620162	7620162	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatacccgcctcagtgtgCacactaccatgtaagccagg	10	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:7620162C>T	uc003bqm.2	+	8	1843	c.1569C>T	c.(1567-1569)TGC>TGT	p.C523C	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.C523C|GRM7_uc003bql.2_Silent_p.C523C|GRM7_uc003bqn.1_Silent_p.C106C|GRM7_uc010hch.1_Silent_p.C34C	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	523	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	CCTCAGTGTGCACACTACCAT	0.468													T	7620162	C	T	7620162	2	4	94	1	0	0	0	0	0	0	0	1	6802	718	25	2		2	GRM7	3	7620162	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	6256786	7620162	190402268	611	59744											
LMCD1	29995	broad.mit.edu	37	chr3	8609216	8609216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtgagcagctgctgagcGgccgggcgtacatcgtcacc	15	12	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:8609216G>A	uc003bqq.2	+	6	1144	c.1030G>A	c.(1030-1032)GGC>AGC	p.G344S	LMCD1_uc011atd.1_Missense_Mutation_p.G271S|LMCD1_uc011ate.1_Missense_Mutation_p.G232S	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	344	LIM zinc-binding 2.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GCTGCTGAGCGGCCGGGCGTA	0.587													A	8609216	G	A	8609216	3	1	94	1	0	0	0	0	1	0	0	0	8844	1116	39	1	1052	1	LMCD1	3	8609216	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	989054	8609216	189413214	612	59745											
C3orf32	51066	broad.mit.edu	37	chr3	8667235	8667236	+	Frame_Shift_Ins	INS	-	-	T													atgccctcttaccaccgagtINStttcatccttaaagaggttt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:8667234_8667235G>GT	uc011atg.2	-	9	906_907	c.866_867C>AC	c.(865-867)aacfs	p.N289fs	C3orf32_uc003bqz.3_Frame_Shift_Ins_p.N267fs|C3orf32_uc003bqt.3_Frame_Shift_Ins_p.N216fs|C3orf32_uc003bqu.3_Frame_Shift_Ins_p.N267fs|C3orf32_uc003bqv.3_Frame_Shift_Ins_p.N216fs|C3orf32_uc003bqx.3_Non-coding_Transcript|C3orf32_uc003bqy.3_Frame_Shift_Ins_p.N267fs	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	Homo sapiens chromosome 3 open reading frame 32 (C3orf32), mRNA.	267										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	14						TTACCACCGAGTTTTCATCCTT	0.53													T	8667236	-	T	8667235	7	5	94	1	0	1	1	0	0	0	0	0	2222	1725	60	0	273	0	C3orf32	3	8667235	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	58019	8667235	189355195	613	59746											
SETD5	55209	broad.mit.edu	37	chr3	9490131	9490131	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagagtgccctgttgagtgCcctttacgtatcacaacgga	10	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:9490131C>T	uc003brt.2	+	16	2598	c.2163C>T	c.(2161-2163)TGC>TGT	p.C721C	SETD5_uc003brs.1_Silent_p.C702C|SETD5_uc003bru.2_Silent_p.C623C|SETD5_uc003brv.2_Silent_p.C610C|SETD5_uc010hck.2_Silent_p.C203C|SETD5_uc003brx.2_Silent_p.C390C	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	721										ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CTGTTGAGTGCCCTTTACGTA	0.418													T	9490131	C	T	9490131	2	4	94	1	0	0	0	0	0	0	0	1	14134	747	26	2		2	SETD5	3	9490131	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	822896	9490131	188532299	614	59747											
BRPF1	7862	broad.mit.edu	37	chr3	9786044	9786044	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccaaaaaccgggagagccaGatgacccccagccacggagg	12	15	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:9786044G>T	uc003bse.2	+	9	3153	c.2754G>T	c.(2752-2754)CAG>CAT	p.Q918H	BRPF1_uc003bsf.2_Missense_Mutation_p.Q924H|BRPF1_uc003bsg.2_Missense_Mutation_p.Q917H|BRPF1_uc011ati.1_Intron	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	918	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					GGGAGAGCCAGATGACCCCCA	0.662													T	9786044	G	T	9786044	3	4	94	1	0	0	0	0	1	0	0	0	1520	933	33	5	2802	5	BRPF1	3	9786044	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	295913	9786044	188236386	615	59748											
VHL	7428	broad.mit.edu	37	chr3	10188237	10188237	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatgcagggacacacgatgGgcttctggttaaccaaactg	12	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:10188237G>T	uc003bvc.2	+	2	593	c.380G>T	c.(379-381)GGG>GTG	p.G127V	VHL_uc003bvd.2_Intron	NM_000551	NP_000542	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor isoform 1	127	Involved in binding to CCT complex.				anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.G127fs*4(1)|p.G127fs*5(1)		kidney(1273)|soft_tissue(24)|adrenal_gland(15)|large_intestine(13)|pancreas(5)|endometrium(4)|thyroid(3)|upper_aerodigestive_tract(3)|central_nervous_system(2)|lung(2)|pleura(1)|paratesticular_tissues(1)	1346				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ACACACGATGGGCTTCTGGTT	0.413		1	D|Mis|N|F|S		renal|hemangioma|pheochromocytoma	renal|hemangioma|pheochromocytoma			von_Hippel-Lindau_disease|Chuvash_Polycythemia_|Pheochromocytoma_(Adrenal)_Familial				T	10188237	G	T	10188237	3	4	94	1	0	0	0	0	1	0	0	0	17159	1232	43	5	386	5	VHL	3	10188237	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	402193	10188237	187834193	616	59749											
TATDN2	9797	broad.mit.edu	37	chr3	10312520	10312520	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgcctatgggaggagctgTtgaaagaggatctggtctgg	16	5	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:10312520T>C	uc003bvg.2	+	4	2235	c.1654T>C	c.(1654-1656)TTG>CTG	p.L552L	TATDN2_uc003bvf.2_Silent_p.L552L|TATDN2_uc011atr.1_Silent_p.L552L|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA	NM_014760	NP_055575	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	552						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			pancreas(2)	2						GGAGGAGCTGTTGAAAGAGGA	0.488													C	10312520	T	C	10312520	2	2	94	1	0	0	0	0	0	0	0	1	15589	1722	60	3		3	TATDN2	3	10312520	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	124283	10312520	187709910	617	59750											
ATP2B2	491	broad.mit.edu	37	chr3	10370624	10370624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgttgagggatgacggCgggctcgagttctgcttgag	16	7	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:10370624C>T	uc003bvt.2	-	23	4045	c.3606G>A	c.(3604-3606)CCG>CCA	p.P1202P	ATP2B2_uc003bvv.2_Silent_p.P1157P|ATP2B2_uc003bvw.2_Silent_p.P1157P|ATP2B2_uc003bvs.2_RNA|ATP2B2_uc010hdo.2_Silent_p.P907P|hsa-mir-378b|MI0014154_5'Flank	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	1202	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GGGATGACGGCGGGCTCGAGT	0.562													T	10370624	C	T	10370624	2	4	94	1	0	0	0	0	0	0	0	1	1140	755	27	1		1	ATP2B2	3	10370624	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	58104	10370624	187651806	618	59751											
ATP2B2	491	broad.mit.edu	37	chr3	10430087	10430087	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccctccatcacgtgggttcCtgggaaaggggacaaaagcc	13	12	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:10430087C>A	uc003bvt.2	-	6	1221	c.782_splice	c.e6-1	p.G261_splice	ATP2B2_uc003bvv.2_Splice_Site_p.G261_splice|ATP2B2_uc003bvw.2_Splice_Site_p.G261_splice|ATP2B2_uc010hdp.2_Intron|ATP2B2_uc010hdo.2_Splice_Site	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1						ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						ACGTGGGTTCCTGGGAAAGGG	0.542													A	10430087	C	A	10430087	5	1	94	1	0	0	0	0	0	0	1	0	1140	695	24	5	3022	5	ATP2B2	3	10430087	Splice_Site	SNP	C	TCGA-BR-8487-01A-11D-2394-08	59463	10430087	187592343	619	59752											
IQSEC1	9922	broad.mit.edu	37	chr3	12949922	12949922	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccgctggcatagctgtcGtccaggcaggcccggctcag	13	15	2	0	rs140575923		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:12949922G>A	uc003bxt.2	-	12	2733	c.2724C>T	c.(2722-2724)GAC>GAT	p.D908D	IQSEC1_uc003bxu.3_Silent_p.D786D|IQSEC1_uc011auw.1_Silent_p.D894D	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	908					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						CATAGCTGTCGTCCAGGCAGG	0.637													A	12949922	G	A	12949922	2	1	94	1	0	0	0	0	0	0	0	1	7817	1136	40	1		1	IQSEC1	3	12949922	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2519835	12949922	185072508	620	59753											
NUP210	23225	broad.mit.edu	37	chr3	13384782	13384782	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggatcatgatggtggatgAgcccgggagcaaagggtgca	17	6	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:13384782A>G	uc003bxv.1	-	21	2940	c.2857T>C	c.(2857-2859)TCA>CCA	p.S953P		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	953	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					ATGGTGGATGAGCCCGGGAGC	0.617													G	13384782	A	G	13384782	3	3	94	1	0	0	0	0	1	0	0	0	10760	304	11	3	2886	3	NUP210	3	13384782	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	434860	13384782	184637648	621	59754											
GRIP2	80852	broad.mit.edu	37	chr3	14549157	14549157	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcggccggcccttgagGctaacgttgttgatggccag	14	12	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:14549157G>A	uc011avi.1	-	19	2424	c.2424C>T	c.(2422-2424)AGC>AGT	p.S808S	GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Silent_p.S339S	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	710	PDZ 6.				synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1						GGCCCTTGAGGCTAACGTTGT	0.592													A	14549157	G	A	14549157	2	1	94	1	0	0	0	0	0	0	0	1	6788	1194	42	2		2	GRIP2	3	14549157	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1164375	14549157	183473273	622	59755											
FGD5	152273	broad.mit.edu	37	chr3	14964573	14964573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgtgtgccggaactgttcGcggaacaagtacccgctgaa	12	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:14964573G>A	uc003bzc.2	+	16	3938	c.3828G>A	c.(3826-3828)TCG>TCA	p.S1276S	FGD5_uc011avk.1_Silent_p.S1276S|FGD5_uc003bzd.2_Silent_p.S354S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1276	FYVE-type.				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						GGAACTGTTCGCGGAACAAGT	0.637													A	14964573	G	A	14964573	2	1	94	1	0	0	0	0	0	0	0	1	5836	1074	38	1		1	FGD5	3	14964573	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	415416	14964573	183057857	623	59756											
ZFYVE20	64145	broad.mit.edu	37	chr3	15119666	15119666	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactgtaggttgtctccccaGcactaaggagaaaccagaga	11	10	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:15119666G>T	uc003bzm.1	-	11	1528	c.914C>A	c.(913-915)GCT>GAT	p.A305D	ZFYVE20_uc010hek.1_Missense_Mutation_p.A305D	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	305	Necessary for the interaction with RAB4A.|Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						TGTCTCCCCAGCACTAAGGAG	0.478													T	15119666	G	T	15119666	3	4	94	1	0	0	0	0	1	0	0	0	17663	971	34	5	1456	5	ZFYVE20	3	15119666	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	155093	15119666	182902764	624	59757											
CAPN7	23473	broad.mit.edu	37	chr3	15274039	15274039	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccaggtgataattgatgAccagttacctgttgatcaca	8	9	2	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:15274039A>G	uc003bzn.2	+	10	1316	c.1046A>G	c.(1045-1047)GAC>GGC	p.D349G		NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	calpain 7	349	Calpain catalytic.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1						ATAATTGATGACCAGTTACCT	0.333													G	15274039	A	G	15274039	3	3	94	1	0	0	0	0	1	0	0	0	2631	275	10	3	1084	3	CAPN7	3	15274039	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	154373	15274039	182748391	625	59758											
GALNTL2	117248	broad.mit.edu	37	chr3	16217062	16217062	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaagccccaaagagggactGgggggctgatgaggacgggg	21	7	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:16217062G>T	uc003car.3	+	1	879	c.404G>T	c.(403-405)TGG>TTG	p.W135L	GALNTL2_uc003caq.3_Intron	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	135	Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1						AAGAGGGACTGGGGGGCTGAT	0.642													T	16217062	G	T	16217062	3	4	94	1	0	0	0	0	1	0	0	0	6222	1357	47	5	406	5	GALNTL2	3	16217062	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	943023	16217062	181805368	626	59759											
OXNAD1	92106	broad.mit.edu	37	chr3	16343348	16343348	+	Frame_Shift_Del	DEL	A	A	-													ataaaactattctacagtgcAaaaaataccagcgaactcct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:16343347_16343347CA>C	uc011awb.2	+	5	821	c.701_701CA>C	c.(700-702)gcafs	p.A234fs	OXNAD1_uc010her.2_Non-coding_Transcript|OXNAD1_uc003caw.3_Frame_Shift_Del_p.A216fs|OXNAD1_uc003cax.3_Frame_Shift_Del_p.A216fs	NM_138381	NP_612390	Q96HP4	OXND1_HUMAN	Homo sapiens oxidoreductase NAD-binding domain containing 1 (OXNAD1), mRNA.	216							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						TTCTACAGTGCAAAAAATACC	0.403													-	16343348	A	-	16343348	7	5	94	1	0	1	0	1	0	0	0	0	11333	117	5	0	666	0	OXNAD1	3	16343348	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	126286	16343348	181679082	627	59760											
ZNF385D	79750	broad.mit.edu	37	chr3	21606141	21606141	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggaagaggaaccccgaaTgtatggtttattacagcttt	12	6	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:21606141T>C	uc003cce.2	-	3	609	c.201A>G	c.(199-201)ACA>ACG	p.T67T	ZNF385D_uc010hfb.1_RNA	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	67						nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|skin(2)|ovary(1)	5						GAACCCCGAATGTATGGTTTA	0.353													C	21606141	T	C	21606141	2	2	94	1	0	0	0	0	0	0	0	1	17875	1451	51	3		3	ZNF385D	3	21606141	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	5262793	21606141	176416289	628	59761											
THRB	7068	broad.mit.edu	37	chr3	24193953	24193953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacacactacacagagctcGtccttgtctaagtaactggg	8	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:24193953G>A	uc003ccx.3	-	6	661	c.312C>T	c.(310-312)GAC>GAT	p.D104D	THRB_uc010hfe.2_Silent_p.D104D|THRB_uc003ccy.3_Silent_p.D104D|THRB_uc003ccz.3_Silent_p.D99D|THRB_uc003cdc.2_Silent_p.D99D|THRB_uc003cdd.2_Silent_p.D99D|THRB_uc003cde.1_Silent_p.D99D|THRB_uc003cda.1_Silent_p.D119D	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	104	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)	CACAGAGCTCGTCCTTGTCTA	0.438													A	24193953	G	A	24193953	2	1	94	1	0	0	0	0	0	0	0	1	15872	1136	40	1		1	THRB	3	24193953	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2587812	24193953	173828477	629	59762											
TGFBR2	7048	broad.mit.edu	37	chr3	30648432	30648432	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatcgtcctgtggacgcgTatcgccagcacgatcccacc	9	17	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:30648432T>C	uc003ceo.2	+	1	439	c.57T>C	c.(55-57)CGT>CGC	p.R19R	TGFBR2_uc003cen.2_Silent_p.R19R	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	19					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						TGTGGACGCGTATCGCCAGCA	0.721													C	30648432	T	C	30648432	2	2	94	1	0	0	0	0	0	0	0	1	15819	1625	57	3		3	TGFBR2	3	30648432	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	6454479	30648432	167373998	630	59763											
TGFBR2	7048	broad.mit.edu	37	chr3	30729962	30729962	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggacaacgtgttgagagatCgagggcgaccagaaattccc	13	9	0	3	rs104893819		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:30729962C>T	uc003ceo.2	+	6	1865	c.1483C>T	c.(1483-1485)CGA>TGA	p.R495*	TGFBR2_uc003cen.2_Nonsense_Mutation_p.R520*	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	495	Protein kinase.|Cytoplasmic (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.R495*(1)		pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						GTTGAGAGATCGAGGGCGACC	0.493													T	30729962	C	T	30729962	4	4	94	1	0	0	0	0	0	1	0	0	15819	876	31	1	1584	1	TGFBR2	3	30729962	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	81530	30729962	167292468	631	59764											
STT3B	201595	broad.mit.edu	37	chr3	31574592	31574593	+	Frame_Shift_Ins	INS	-	-	G													acagccggcacggccaccacINSgggcccggggcccagtgcgc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:31574592_31574593insG	uc011axe.1	+	1	102_103	c.102_103insG	c.(100-105)CACGGGfs	p.H34fs	STT3B_uc010hft.1_Frame_Shift_Ins_p.H34fs|STT3B_uc003cer.1_Frame_Shift_Ins_p.H34fs	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	source of immunodominant MHC-associated	34_35					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding				0						ACGGCCACCACGGGCCCGGGGC	0.569													G	31574593	-	G	31574592	7	5	94	1	0	1	1	0	0	0	0	0	15333	535	19	0	104	0	STT3B	3	31574592	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	844630	31574592	166447838	632	59765											
OSBPL10	114884	broad.mit.edu	37	chr3	31725151	31725151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatcatagagacccccacGgacatgcccatgaacttgct	7	15	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:31725151G>A	uc003cev.2	-	9	2082	c.1701C>T	c.(1699-1701)TCC>TCT	p.S567S	OSBPL10_uc003ceu.1_Silent_p.S324S|OSBPL10_uc011axf.1_Silent_p.S503S	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	567					lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)		AGACCCCCACGGACATGCCCA	0.478													A	31725151	G	A	31725151	2	1	94	1	0	0	0	0	0	0	0	1	11275	1103	39	1		1	OSBPL10	3	31725151	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	150559	31725151	166297279	633	59766											
CMTM8	152189	broad.mit.edu	37	chr3	32398895	32398895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggtatggacgcttattGctggaactgagtacttccgg	13	8	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:32398895G>A	uc003cex.2	+	2	472	c.178G>A	c.(178-180)GCT>ACT	p.A60T	CMTM8_uc010hfu.2_Intron	NM_178868	NP_849199	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing	60	Helical; (Potential).|MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0						GACGCTTATTGCTGGAACTGA	0.483													A	32398895	G	A	32398895	3	1	94	1	0	0	0	0	1	0	0	0	3589	1319	46	2	184	2	CMTM8	3	32398895	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	673744	32398895	165623535	634	59767											
CMTM6	54918	broad.mit.edu	37	chr3	32544163	32544163	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccatgaaaaagtaggcagcGaggccgctccgggggcctct	14	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:32544163G>A	uc003cfa.1	-	1	241	c.75C>T	c.(73-75)CTC>CTT	p.L25L		NM_017801	NP_060271	Q9NX76	CKLF6_HUMAN	CKLF-like MARVEL transmembrane domain containing	25					chemotaxis	extracellular space|integral to membrane	cytokine activity				0						AGTAGGCAGCGAGGCCGCTCC	0.731													A	32544163	G	A	32544163	2	1	94	1	0	0	0	0	0	0	0	1	3587	1045	37	1		1	CMTM6	3	32544163	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	145268	32544163	165478267	635	59768											
TMPPE	643853	broad.mit.edu	37	chr3	33135617	33135617	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatacgagcgggaggcgatcAtggacacgaagacagtgaca	15	8	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:33135617A>G	uc003cfk.2	-	2	262	c.71T>C	c.(70-72)ATG>ACG	p.M24T	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Intron	NM_001039770	NP_001034859	Q6ZT21	TMPPE_HUMAN	transmembrane protein with	24	Helical; (Potential).					integral to membrane	metal ion binding				0						GGAGGCGATCATGGACACGAA	0.602													G	33135617	A	G	33135617	3	3	94	1	0	0	0	0	1	0	0	0	16235	217	8	3	1294	3	TMPPE	3	33135617	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	591454	33135617	164886813	636	59769											
UBP1	7342	broad.mit.edu	37	chr3	33467186	33467186	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctctgtttcaccatccaatGgaaggctggaatcttcctgc	9	12	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:33467186G>T	uc003cfq.3	-	2	691	c.161C>A	c.(160-162)CCA>CAA	p.P54Q	UBP1_uc003cfr.3_Missense_Mutation_p.P54Q|UBP1_uc010hga.2_Missense_Mutation_p.P54Q	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a) isoform a	54					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			kidney(2)	2						ACCATCCAATGGAAGGCTGGA	0.418													T	33467186	G	T	33467186	3	4	94	1	0	0	0	0	1	0	0	0	16892	1348	47	5	1521	5	UBP1	3	33467186	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	331569	33467186	164555244	637	59770											
ARPP21	10777	broad.mit.edu	37	chr3	35778784	35778784	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagcagccaccacagcagcAgccctccccgcagccccaac	7	22	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:35778784A>G	uc003cgb.2	+	16	1838	c.1574A>G	c.(1573-1575)CAG>CGG	p.Q525R	ARPP21_uc003cga.2_Missense_Mutation_p.Q471R|ARPP21_uc011axy.1_Missense_Mutation_p.Q491R|ARPP21_uc003cgf.2_Missense_Mutation_p.Q326R|ARPP21_uc003cgg.2_Missense_Mutation_p.Q13R	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	525	Gln-rich.					cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						CCACAGCAGCAGCCCTCCCCG	0.647													G	35778784	A	G	35778784	3	3	94	1	0	0	0	0	1	0	0	0	978	188	7	3	1641	3	ARPP21	3	35778784	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	2311598	35778784	162243646	638	59771											
DCLK3	85443	broad.mit.edu	37	chr3	36756838	36756838	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actatgatacctgctccacaAccctcttgtgctggctccgg	8	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:36756838A>G	uc003cgi.2	-	5	2419	c.1928T>C	c.(1927-1929)GTT>GCT	p.V643A		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	643						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						CTGCTCCACAACCCTCTTGTG	0.522													G	36756838	A	G	36756838	3	3	94	1	0	0	0	0	1	0	0	0	4293	43	2	3	22	3	DCLK3	3	36756838	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	978054	36756838	161265592	639	59772											
TRANK1	9881	broad.mit.edu	37	chr3	36897282	36897282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtcactgtcacccgtacGcatttctacagctttatcct	8	13	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:36897282G>A	uc003cgj.2	-	3	2451	c.2149C>T	c.(2149-2151)CGT>TGT	p.R717C		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1267					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TCACCCGTACGCATTTCTACA	0.512													A	36897282	G	A	36897282	3	1	94	1	0	0	0	0	1	0	0	0	16451	1087	38	1	5026	1	TRANK1	3	36897282	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	140444	36897282	161125148	640	59773											
ITGA9	3680	broad.mit.edu	37	chr3	37574880	37574880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcacagcgcctcagtgtcaCgacggacagcagcctgtgaa	11	13	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:37574880C>T	uc003chd.2	+	14	1502	c.1449C>T	c.(1447-1449)CAC>CAT	p.H483H	ITGA9_uc003chc.2_Silent_p.H483H	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	483	Extracellular (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CTCAGTGTCACGACGGACAGC	0.562													T	37574880	C	T	37574880	2	4	94	1	0	0	0	0	0	0	0	1	7883	535	19	1		1	ITGA9	3	37574880	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	677598	37574880	160447550	641	59774											
MYD88	4615	broad.mit.edu	37	chr3	38180225	38180226	+	Frame_Shift_Ins	INS	-	-	C													tcccggcgcggggtctgcggINSccccggtctcctccacatcc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:38180225_38180226insC	uc003chx.2	+	1	257_258	c.73_74insC	c.(73-75)GCCfs	p.A25fs	ACAA1_uc003cht.2_5'Flank|ACAA1_uc003chu.2_5'Flank|ACAA1_uc010hgy.2_5'Flank|ACAA1_uc010hgz.2_5'Flank|ACAA1_uc003chv.2_5'Flank|MYD88_uc011ayh.1_Frame_Shift_Ins_p.A25fs|MYD88_uc011ayi.1_Frame_Shift_Ins_p.A25fs|MYD88_uc011ayj.1_Frame_Shift_Ins_p.A25fs|MYD88_uc011ayk.1_Frame_Shift_Ins_p.A25fs|MYD88_uc011ayl.1_Frame_Shift_Ins_p.A25fs	NM_002468	NP_002459	Q99836	MYD88_HUMAN	myeloid differentiation primary response gene	12					3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(93)|breast(1)	94				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGGGTCTGCGGCCCCGGTCTCC	0.688			Mis 		ABC-DLBCL								C	38180226	-	C	38180225	7	5	94	1	0	1	1	0	0	0	0	0	10023	1203	42	0	75	0	MYD88	3	38180225	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	605345	38180225	159842205	642	59775	271	2									
MYD88	4615	broad.mit.edu	37	chr3	38180226	38180227	+	Frame_Shift_Ins	INS	-	-	C													cccggcgcggggtctgcggcINScccggtctcctccacatcct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:38180225_38180226G>GC	uc003chx.3	+	0	257_258	c.73_74G>GC	c.(73-75)gccfs	p.A25fs	ACAA1_uc003cht.3_5'Flank|ACAA1_uc003chu.3_5'Flank|MYD88_uc011ayh.2_Frame_Shift_Ins_p.A25fs|MYD88_uc011ayi.2_Frame_Shift_Ins_p.A25fs|MYD88_uc011ayj.2_Frame_Shift_Ins_p.A25fs|MYD88_uc011ayk.2_Frame_Shift_Ins_p.A25fs|MYD88_uc011ayl.2_Frame_Shift_Ins_p.A25fs	NM_001172567	NP_001166038	Q99836	MYD88_HUMAN	Homo sapiens myeloid differentiation primary response gene (88) (MYD88), transcript variant 1, mRNA.	12					3'-UTR-mediated mRNA stabilization|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	TIR domain binding|death receptor binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGGGTCTGCGGCCCCGGTCTCC	0.688			Mis		ABC-DLBCL								C	38180227	-	C	38180226	7	5	94	1	0	1	1	0	0	0	0	0	10023	739	26	0	76	0	MYD88	3	38180226	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	38180226	159842204	643	59776	271	2									
MYD88	4615	broad.mit.edu	37	chr3	38181445	38181445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagacagcagtgtcccacGgacagcagagctggcgggca	15	11	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:38181445G>A	uc003chx.2	+	2	642	c.458G>A	c.(457-459)CGG>CAG	p.R153Q	ACAA1_uc003cht.2_5'Flank|ACAA1_uc003chu.2_5'Flank|ACAA1_uc010hgy.2_5'Flank|ACAA1_uc010hgz.2_5'Flank|ACAA1_uc003chv.2_5'Flank|MYD88_uc011ayh.1_Missense_Mutation_p.R153Q|MYD88_uc011ayi.1_Missense_Mutation_p.R153Q|MYD88_uc011ayj.1_Missense_Mutation_p.R153Q|MYD88_uc011ayk.1_Intron|MYD88_uc011ayl.1_Intron	NM_002468	NP_002459	Q99836	MYD88_HUMAN	myeloid differentiation primary response gene	140	Intermediate domain (By similarity).				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(93)|breast(1)	94				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGTGTCCCACGGACAGCAGAG	0.542			Mis 		ABC-DLBCL								A	38181445	G	A	38181445	3	1	94	1	0	0	0	0	1	0	0	0	10023	1116	39	1	464	1	MYD88	3	38181445	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1219	38181445	159840985	644	59777											
MYD88	4615	broad.mit.edu	37	chr3	38182637	38182637	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaggtgcccatcagaagCgactgatccccatcaagtac	9	13	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:38182637C>T	uc003chx.2	+	5	998	c.814C>T	c.(814-816)CGA>TGA	p.R272*	MYD88_uc011ayi.1_Nonsense_Mutation_p.R264*|MYD88_uc011ayj.1_Silent_p.S203S|MYD88_uc011ayk.1_Silent_p.S158S|MYD88_uc011ayl.1_Nonsense_Mutation_p.R219*	NM_002468	NP_002459	Q99836	MYD88_HUMAN	myeloid differentiation primary response gene	251	TIR.				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(93)|breast(1)	94				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCATCAGAAGCGACTGATCCC	0.552			Mis 		ABC-DLBCL								T	38182637	C	T	38182637	4	4	94	1	0	0	0	0	0	1	0	0	10023	769	27	1	832	1	MYD88	3	38182637	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1192	38182637	159839793	645	59778											
XYLB	9942	broad.mit.edu	37	chr3	38416746	38416746	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccagcactacatggcactcCtgtggtgagcttgggtgttg	13	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:38416746C>A	uc003cic.2	+	12	1109	c.1000C>A	c.(1000-1002)CTG>ATG	p.L334M	XYLB_uc011ayp.1_Missense_Mutation_p.L197M|XYLB_uc003cid.1_Missense_Mutation_p.L256M	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	334					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CATGGCACTCCTGTGGTGAGC	0.582													A	38416746	C	A	38416746	3	1	94	1	0	0	0	0	1	0	0	0	17459	680	24	5	1046	5	XYLB	3	38416746	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	234109	38416746	159605684	646	59779											
SCN5A	6331	broad.mit.edu	37	chr3	38592944	38592944	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgtgcggatccccttgGcccctcggatcagtctgagg	14	14	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:38592944G>C	uc003cio.2	-	28	5113	c.4919C>G	c.(4918-4920)GCC>GGC	p.A1640G	SCN5A_uc003cin.2_Missense_Mutation_p.A1639G|SCN5A_uc003cil.3_Missense_Mutation_p.A1640G|SCN5A_uc010hhi.2_Missense_Mutation_p.A1622G|SCN5A_uc010hhk.2_Missense_Mutation_p.A1607G|SCN5A_uc011ayr.1_Missense_Mutation_p.A1586G	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1640	Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GATCCCCTTGGCCCCTCGGAT	0.587													C	38592944	G	C	38592944	3	2	94	1	0	0	0	0	1	0	0	0	13922	1203	42	5	1135	5	SCN5A	3	38592944	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	176198	38592944	159429486	647	59780											
SCN5A	6331	broad.mit.edu	37	chr3	38655264	38655264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatatagttttcagggcccGgaggactcggaaggtgcgta	15	7	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:38655264G>A	uc003cio.2	-	6	867	c.673C>T	c.(673-675)CGG>TGG	p.R225W	SCN5A_uc003cin.2_Missense_Mutation_p.R225W|SCN5A_uc003cil.3_Intron|SCN5A_uc010hhi.2_Intron|SCN5A_uc010hhk.2_Intron|SCN5A_uc011ayr.1_Intron|SCN5A_uc010hhl.1_Intron	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	225	Helical; Voltage-sensor; Name=S4 of repeat I; (Potential).		R -> W (in PFHB1A).|R -> Q (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TTCAGGGCCCGGAGGACTCGG	0.493													A	38655264	G	A	38655264	3	1	94	1	0	0	0	0	1	0	0	0	13922	1115	39	1	5469	1	SCN5A	3	38655264	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	62320	38655264	159367166	648	59781											
TTC21A	199223	broad.mit.edu	37	chr3	39178436	39178436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaagttcctgaacaaggcaCgcaaggacagcacttggggc	12	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:39178436C>T	uc003cjc.2	+	24	3340	c.3163C>T	c.(3163-3165)CGC>TGC	p.R1055C	TTC21A_uc003cje.2_Missense_Mutation_p.R1056C|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.R1007C|TTC21A_uc003cjf.2_Missense_Mutation_p.R176C	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	1055	TPR 16.						binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAACAAGGCACGCAAGGACAG	0.478													T	39178436	C	T	39178436	3	4	94	1	0	0	0	0	1	0	0	0	16684	536	19	1	3260	1	TTC21A	3	39178436	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	523172	39178436	158843994	649	59782											
TTC21A	199223	broad.mit.edu	37	chr3	39178807	39178807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgctgcagggcctctgcCggctggccaccagggagaag	17	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:39178807C>T	uc003cjc.2	+	25	3577	c.3400C>T	c.(3400-3402)CGG>TGG	p.R1134W	TTC21A_uc003cje.2_Missense_Mutation_p.R1135W|TTC21A_uc003cjd.2_Intron|TTC21A_uc011ayx.1_Missense_Mutation_p.R1086W|TTC21A_uc003cjf.2_Missense_Mutation_p.R255W	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	1134							binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGGCCTCTGCCGGCTGGCCAC	0.647													T	39178807	C	T	39178807	3	4	94	1	0	0	0	0	1	0	0	0	16684	643	23	1	3501	1	TTC21A	3	39178807	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	371	39178807	158843623	650	59783											
XIRP1	165904	broad.mit.edu	37	chr3	39225733	39225733	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaggggactggctgagggaGgggcaggttcaggttgcaca	20	7	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:39225733G>T	uc003cjk.1	-	2	5425	c.5204C>A	c.(5203-5205)CCT>CAT	p.P1735H	XIRP1_uc003cji.2_3'UTR|XIRP1_uc003cjj.2_Missense_Mutation_p.P418H	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1735	Interaction with FLNC.						actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGCTGAGGGAGGGGCAGGTTC	0.587													T	39225733	G	T	39225733	3	4	94	1	0	0	0	0	1	0	0	0	17426	1000	35	5	331	5	XIRP1	3	39225733	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	46926	39225733	158796697	651	59784											
CTNNB1	1499	broad.mit.edu	37	chr3	41267268	41267268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgcagaaaatggttgcCttgctcaacaaaacaaatgt	10	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:41267268C>T	uc010hia.1	+	7	1008	c.852C>T	c.(850-852)GCC>GCT	p.A284A	CTNNB1_uc003ckp.2_Silent_p.A284A|CTNNB1_uc003ckq.2_Silent_p.A284A|CTNNB1_uc003ckr.2_Silent_p.A284A|CTNNB1_uc011azf.1_Silent_p.A277A|CTNNB1_uc011azg.1_Silent_p.A212A|uc010hib.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	284	ARM 4.				adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	AAATGGTTGCCTTGCTCAACA	0.383		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				T	41267268	C	T	41267268	2	4	94	1	0	0	0	0	0	0	0	1	4016	668	24	4		4	CTNNB1	3	41267268	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2041535	41267268	156755162	652	59785											
TRAK1	22906	broad.mit.edu	37	chr3	42166997	42166997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattataagttaagagccgaCaccatctacggttatgacca	7	10	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:42166997C>T	uc003cky.2	+	2	393	c.177C>T	c.(175-177)GAC>GAT	p.D59D	TRAK1_uc011azh.1_Silent_p.D59D|TRAK1_uc011azi.1_Silent_p.D59D	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	59	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						TAAGAGCCGACACCATCTACG	0.483													T	42166997	C	T	42166997	2	4	94	1	0	0	0	0	0	0	0	1	16446	477	17	4		4	TRAK1	3	42166997	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	899729	42166997	155855433	653	59786											
VIPR1	7433	broad.mit.edu	37	chr3	42572370	42572370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtacaccctgcttgccGtctccttcttctctgagcgg	8	16	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:42572370G>A	uc003clf.2	+	7	860	c.736G>A	c.(736-738)GTC>ATC	p.V246I	VIPR1_uc011azl.1_Missense_Mutation_p.V198I|VIPR1_uc011azm.1_Silent_p.P42P|VIPR1_uc011azn.1_Missense_Mutation_p.V219I|VIPR1_uc003clg.2_5'Flank	NM_004624	NP_004615	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	246	Cytoplasmic (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CCTGCTTGCCGTCTCCTTCTT	0.567													A	42572370	G	A	42572370	3	1	94	1	0	0	0	0	1	0	0	0	17166	1145	40	1	762	1	VIPR1	3	42572370	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	405373	42572370	155450060	654	59787											
NKTR	4820	broad.mit.edu	37	chr3	42662950	42662950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattctcaaacatgacagaGcgttccttttatcaatggca	6	9	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:42662950G>A	uc003clo.2	+	6	463	c.316G>A	c.(316-318)GCG>ACG	p.A106T	NKTR_uc003cll.1_3'UTR|NKTR_uc003clm.1_5'UTR|NKTR_uc003clp.2_5'UTR|NKTR_uc011azp.1_5'UTR|NKTR_uc003clq.1_5'UTR	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	106	PPIase cyclophilin-type.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ACATGACAGAGCGTTCCTTTT	0.333													A	42662950	G	A	42662950	3	1	94	1	0	0	0	0	1	0	0	0	10448	971	34	2	334	2	NKTR	3	42662950	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	90580	42662950	155359480	655	59788											
NKTR	4820	broad.mit.edu	37	chr3	42679755	42679755	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaagtctgaacgggaatgCcctcattcaaaaaaaagaac	7	10	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:42679755C>T	uc003clo.2	+	13	2706	c.2559C>T	c.(2557-2559)TGC>TGT	p.C853C	NKTR_uc003clm.1_Silent_p.C600C|NKTR_uc003clp.2_Silent_p.C600C|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Silent_p.C743C|NKTR_uc003clr.1_Silent_p.C600C|NKTR_uc003cls.2_Silent_p.C553C	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	853					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AACGGGAATGCCCTCATTCAA	0.383													T	42679755	C	T	42679755	2	4	94	1	0	0	0	0	0	0	0	1	10448	747	26	2		2	NKTR	3	42679755	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	16805	42679755	155342675	656	59789											
ZNF502	91392	broad.mit.edu	37	chr3	44763241	44763241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaaaacactcaaatcttaCgcaacatcagagaattcaca	4	11	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:44763241C>T	uc011baa.1	+	4	1187	c.932C>T	c.(931-933)ACG>ATG	p.T311M	ZNF502_uc003cns.2_Missense_Mutation_p.T311M|ZNF502_uc011bab.1_Missense_Mutation_p.T311M|ZNF502_uc003cnt.2_Missense_Mutation_p.T311M	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	311	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TCAAATCTTACGCAACATCAG	0.403													T	44763241	C	T	44763241	3	4	94	1	0	0	0	0	1	0	0	0	17947	536	19	1	938	1	ZNF502	3	44763241	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2083486	44763241	153259189	657	59790											
LIMD1	8994	broad.mit.edu	37	chr3	45636943	45636943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggcaagcccaaagtgggGtgacaaaccaggagtgtccc	13	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:45636943G>A	uc003coq.2	+	1	621	c.572G>A	c.(571-573)GGT>GAT	p.G191D		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	191					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCAAAGTGGGGTGACAAACCA	0.607													A	45636943	G	A	45636943	3	1	94	1	0	0	0	0	1	0	0	0	8798	1261	44	4	574	4	LIMD1	3	45636943	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	873702	45636943	152385487	658	59791											
CCR5	1234	broad.mit.edu	37	chr3	46414455	46414455	+	Frame_Shift_Del	DEL	A	A	-													ttatacatcggagccctgccAaaaaatcaatgtgaagcaaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:46414455delA	uc003cpo.3	+	3	184	c.62delA	c.(61-63)CAAfs	p.Q21fs	CCR5_uc010hjd.2_Frame_Shift_Del_p.Q21fs	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5	21	Extracellular (Potential).				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GAGCCCTGCCAAAAAATCAAT	0.433													-	46414455	A	-	46414455	7	5	94	1	0	1	0	1	0	0	0	0	2944	130	5	0	64	0	CCR5	3	46414455	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	777512	46414455	151607975	659	59792											
CCRL2	9034	broad.mit.edu	37	chr3	46450555	46450555	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttcaacccagggggcagTctgcacaaggcacatcgagg	12	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:46450555T>C	uc003cpp.3	+	2	1270	c.985T>C	c.(985-987)TCT>CCT	p.S329P	CCRL2_uc010hjg.2_Missense_Mutation_p.S341P|CCRL2_uc010hjf.2_Missense_Mutation_p.S329P	NM_003965	NP_003956	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2 isoform 1	329	Cytoplasmic (Potential).				chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		CAGGGGGCAGTCTGCACAAGG	0.473													C	46450555	T	C	46450555	3	2	94	1	0	0	0	0	1	0	0	0	2950	1667	58	3	1027	3	CCRL2	3	46450555	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	36100	46450555	151571875	660	59793											
ALS2CL	259173	broad.mit.edu	37	chr3	46722884	46722884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagtagcccttgtacacctCgtcggtgctgtacctgggga	13	11	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:46722884C>T	uc003cqa.1	-	13	1478	c.1288G>A	c.(1288-1290)GAG>AAG	p.E430K	ALS2CL_uc003cpz.1_5'UTR|ALS2CL_uc003cqb.1_Missense_Mutation_p.E430K|ALS2CL_uc003cqc.1_RNA	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1	430	MORN 3.			E -> G (in Ref. 2; BAD18448).	endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TTGTACACCTCGTCGGTGCTG	0.652													T	46722884	C	T	46722884	3	4	94	1	0	0	0	0	1	0	0	0	551	893	31	1	1629	1	ALS2CL	3	46722884	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	272329	46722884	151299546	661	59794											
CCDC12	151903	broad.mit.edu	37	chr3	46963601	46963601	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatccactgcagaggctagGctgtcttcctggcctttcag	11	13	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:46963601G>A	uc003cqo.2	-	7	495	c.486C>T	c.(484-486)AGC>AGT	p.S162S		NM_144716	NP_653317	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12	149											0		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		CAGAGGCTAGGCTGTCTTCCT	0.642													A	46963601	G	A	46963601	2	1	94	1	0	0	0	0	0	0	0	1	2755	1194	42	2		2	CCDC12	3	46963601	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	240717	46963601	151058829	662	59795											
NBEAL2	23218	broad.mit.edu	37	chr3	47045630	47045630	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtccacctgcggcgtttcaAcctgcgccgttcagcacttg	11	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:47045630A>G	uc003cqp.2	+	37	6124	c.5945A>G	c.(5944-5946)AAC>AGC	p.N1982S	NBEAL2_uc010hjm.1_Missense_Mutation_p.N1359S|NBEAL2_uc010hjn.1_Missense_Mutation_p.N378S|NBEAL2_uc010hjo.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1982							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CGGCGTTTCAACCTGCGCCGT	0.587													G	47045630	A	G	47045630	3	3	94	1	0	0	0	0	1	0	0	0	10189	43	2	3	6091	3	NBEAL2	3	47045630	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	82029	47045630	150976800	663	59796											
PTPN23	25930	broad.mit.edu	37	chr3	47451306	47451306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcccgcgaggctgcccGccagcagctcctggacaggt	14	17	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:47451306G>A	uc003crf.1	+	19	2207	c.2111G>A	c.(2110-2112)CGC>CAC	p.R704H	PTPN23_uc011baw.1_Missense_Mutation_p.R669H|PTPN23_uc011bax.1_Intron|PTPN23_uc011bay.1_Missense_Mutation_p.R574H	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	704					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGGCTGCCCGCCAGCAGCTC	0.667													A	47451306	G	A	47451306	3	1	94	1	0	0	0	0	1	0	0	0	12788	1087	38	1	2185	1	PTPN23	3	47451306	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	405676	47451306	150571124	664	59797											
DHX30	22907	broad.mit.edu	37	chr3	47888052	47888052	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctcgccgcatctctgctgTgtctgtggcacagcgggtca	12	14	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:47888052T>C	uc003cru.2	+	11	1916	c.1490T>C	c.(1489-1491)GTG>GCG	p.V497A	DHX30_uc003crt.2_Missense_Mutation_p.V458A|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	497	Helicase ATP-binding.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATCTCTGCTGTGTCTGTGGCA	0.652													C	47888052	T	C	47888052	3	2	94	1	0	0	0	0	1	0	0	0	4504	1696	59	3	1535	3	DHX30	3	47888052	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	436746	47888052	150134378	665	59798											
MAP4	4134	broad.mit.edu	37	chr3	47913552	47913552	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagaagctggcttggatggTgaggcccgcttctcaggagc	16	10	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:47913552T>C	uc003csb.2	-	11	2887	c.2361A>G	c.(2359-2361)TCA>TCG	p.S787S	MAP4_uc003csc.3_Silent_p.S787S|MAP4_uc003crw.2_5'Flank|MAP4_uc003crx.2_Silent_p.S47S|MAP4_uc011bbe.1_Silent_p.S538S|MAP4_uc003cry.2_Silent_p.S522S|MAP4_uc003csa.3_Silent_p.S522S|MAP4_uc003crz.3_RNA|MAP4_uc003csd.2_Silent_p.S522S	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	787				S->E: No change in microtubule binding; reduced microtubule polymerization activity.	negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GCTTGGATGGTGAGGCCCGCT	0.562													C	47913552	T	C	47913552	2	2	94	1	0	0	0	0	0	0	0	1	9258	1683	59	3		3	MAP4	3	47913552	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	25500	47913552	150108878	666	59799											
PLXNB1	5364	broad.mit.edu	37	chr3	48455211	48455211	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgacccagggagaagcgcAagttccccatctgcacctgt	11	14	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:48455211A>G	uc003csw.2	-	23	4673	c.4403T>C	c.(4402-4404)TTG>TCG	p.L1468S	PLXNB1_uc003cst.2_5'UTR|PLXNB1_uc003csu.2_Missense_Mutation_p.L1285S|PLXNB1_uc003csx.2_Missense_Mutation_p.L1468S|PLXNB1_uc010hjx.1_RNA	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1468	Extracellular (Potential).				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGAGAAGCGCAAGTTCCCCAT	0.642													G	48455211	A	G	48455211	3	3	94	1	0	0	0	0	1	0	0	0	12123	131	5	3	2068	3	PLXNB1	3	48455211	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	541659	48455211	149567219	667	59800											
PLXNB1	5364	broad.mit.edu	37	chr3	48461117	48461117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtggagaaggcgggtgCgtcaccccccgtccactcgt	15	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:48461117C>T	uc003csw.2	-	11	2848	c.2578G>A	c.(2578-2580)GCA>ACA	p.A860T	PLXNB1_uc003csu.2_Intron|PLXNB1_uc003csx.2_Missense_Mutation_p.A860T|PLXNB1_uc010hjx.1_Intron	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	860	Extracellular (Potential).				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AAGGCGGGTGCGTCACCCCCC	0.682													T	48461117	C	T	48461117	3	4	94	1	0	0	0	0	1	0	0	0	12123	768	27	1	3941	1	PLXNB1	3	48461117	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	5906	48461117	149561313	668	59801											
PLXNB1	5364	broad.mit.edu	37	chr3	48461322	48461322	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctacctctgacggtgacagCggggaggccaagaggtcctc	15	12	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:48461322C>T	uc003csw.2	-	11	2643	c.2373G>A	c.(2371-2373)CCG>CCA	p.P791P	PLXNB1_uc003csu.2_Intron|PLXNB1_uc003csx.2_Silent_p.P791P|PLXNB1_uc010hjx.1_Intron	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	791	Extracellular (Potential).|Pro-rich.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACGGTGACAGCGGGGAGGCCA	0.667													T	48461322	C	T	48461322	2	4	94	1	0	0	0	0	0	0	0	1	12123	755	27	1		1	PLXNB1	3	48461322	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	205	48461322	149561108	669	59802											
SHISA5	51246	broad.mit.edu	37	chr3	48510575	48510575	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctggcggggtagggcgcGgctgctcctcctgaaagcag	18	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:48510575G>A	uc003ctp.1	-	6	788	c.654C>T	c.(652-654)GCC>GCT	p.A218A	SHISA5_uc003ctn.1_Missense_Mutation_p.R87C|SHISA5_uc003ctm.1_Silent_p.A115A|SHISA5_uc011bbk.1_Missense_Mutation_p.R127C|SHISA5_uc003cto.1_Silent_p.A187A|SHISA5_uc003ctq.1_Silent_p.A211A|SHISA5_uc003ctr.1_Silent_p.A187A|SHISA5_uc003cts.1_Silent_p.A187A|SHISA5_uc003ctt.2_3'UTR|SHISA5_uc003ctu.1_RNA|SHISA5_uc011bbl.1_Silent_p.A116A	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN	scotin precursor	218	Cytoplasmic (Potential).|Pro-rich.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding				0						GGTAGGGCGCGGCTGCTCCTC	0.652													A	48510575	G	A	48510575	2	1	94	1	0	0	0	0	0	0	0	1	14283	1103	39	1		1	SHISA5	3	48510575	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	49253	48510575	149511855	670	59803											
SHISA5	51246	broad.mit.edu	37	chr3	48520624	48520624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagccagggcgaaacctcagCgccgagcccagctgctccac	11	17	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:48520624C>T	uc003ctp.1	-	3	410	c.276G>A	c.(274-276)GCG>GCA	p.A92A	SHISA5_uc003cto.1_Silent_p.A61A|SHISA5_uc003ctq.1_Silent_p.A85A|SHISA5_uc003ctr.1_Silent_p.A61A|SHISA5_uc003cts.1_Silent_p.A61A|SHISA5_uc011bbl.1_5'UTR	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN	scotin precursor	92	Extracellular (Potential).				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding				0						GAAACCTCAGCGCCGAGCCCA	0.597													T	48520624	C	T	48520624	2	4	94	1	0	0	0	0	0	0	0	1	14283	755	27	1		1	SHISA5	3	48520624	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	10049	48520624	149501806	671	59804											
PFKFB4	5210	broad.mit.edu	37	chr3	48573768	48573768	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctctccccgtgccggcagAggtagatggagcggggggtc	18	12	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:48573768A>G	uc003ctv.2	-	8	778	c.761T>C	c.(760-762)CTC>CCC	p.L254P	PFKFB4_uc003ctw.2_Missense_Mutation_p.L63P|PFKFB4_uc010hkc.2_Missense_Mutation_p.L254P|PFKFB4_uc003ctx.2_Missense_Mutation_p.L211P|PFKFB4_uc010hkb.2_Missense_Mutation_p.L254P|PFKFB4_uc011bbm.1_Missense_Mutation_p.L243P|PFKFB4_uc011bbn.1_RNA	NM_004567	NP_004558	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,	254	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTGCCGGCAGAGGTAGATGGA	0.637													G	48573768	A	G	48573768	3	3	94	1	0	0	0	0	1	0	0	0	11763	304	11	3	676	3	PFKFB4	3	48573768	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	53144	48573768	149448662	672	59805											
CELSR3	1951	broad.mit.edu	37	chr3	48666129	48666129	+	Frame_Shift_Del	DEL	C	C	-													cgaggagcggaagaccttcaCcccccggacttccttggcct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:48666129delC	uc003cuf.1	-	51	11833	c.11833delG	c.(11833-11835)GTGfs	p.V3945fs	SLC26A6_uc003cug.2_Frame_Shift_Del_p.V519fs|SLC26A6_uc003cuh.2_Frame_Shift_Del_p.V540fs|SLC26A6_uc010hke.2_Frame_Shift_Del_p.V391fs|SLC26A6_uc003cuk.2_Frame_Shift_Del_p.V433fs|SLC26A6_uc003cui.2_Frame_Shift_Del_p.V540fs|SLC26A6_uc003cuj.2_Frame_Shift_Del_p.V540fs|SLC26A6_uc011bbp.1_Frame_Shift_Del_p.V504fs	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	Error:Variant_position_missing_in_Q9NYQ7_after_alignment					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AAGACCTTCACCCCCCGGACT	0.592													-	48666129	C	-	48666129	7	5	94	1	0	1	0	1	0	0	0	0	3223	507	18	0		0	CELSR3	3	48666129	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	92361	48666129	149356301	673	59806											
CELSR3	1951	broad.mit.edu	37	chr3	48685381	48685381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggtagcgagggtagcgaCgggccccccggggagaactg	18	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:48685381C>T	uc003cul.2	-	20	7303	c.7022G>A	c.(7021-7023)CGT>CAT	p.R2341H	CELSR3_uc003cuf.1_Missense_Mutation_p.R2411H|CELSR3_uc010hkg.2_Missense_Mutation_p.R324H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	2341	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGGTAGCGACGGGCCCCCCG	0.632													T	48685381	C	T	48685381	3	4	94	1	0	0	0	0	1	0	0	0	3223	536	19	1	2980	1	CELSR3	3	48685381	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	19252	48685381	149337049	674	59807											
CELSR3	1951	broad.mit.edu	37	chr3	48685826	48685826	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagcccccaggggcccgCtgccccagcgccgcccacaa	14	20	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:48685826C>T	uc003cul.2	-	19	7127	c.6846G>A	c.(6844-6846)CAG>CAA	p.Q2282Q	CELSR3_uc003cuf.1_Silent_p.Q2352Q|CELSR3_uc010hkg.2_Silent_p.Q265Q	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	2282	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGGGGCCCGCTGCCCCAGCG	0.627													T	48685826	C	T	48685826	2	4	94	1	0	0	0	0	0	0	0	1	3223	796	28	2		2	CELSR3	3	48685826	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	445	48685826	149336604	675	59808											
CELSR3	1951	broad.mit.edu	37	chr3	48690532	48690532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcagatcgtgccaccggCcatcactgacagtcacctgg	11	16	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:48690532C>T	uc003cul.2	-	10	5818	c.5537G>A	c.(5536-5538)GGC>GAC	p.G1846D	CELSR3_uc003cuf.1_Missense_Mutation_p.G1916D|CELSR3_uc010hkg.2_5'Flank	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1846	Extracellular (Potential).|Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGCCACCGGCCATCACTGAC	0.617													T	48690532	C	T	48690532	3	4	94	1	0	0	0	0	1	0	0	0	3223	739	26	2	4505	2	CELSR3	3	48690532	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4706	48690532	149331898	676	59809											
ARIH2	10425	broad.mit.edu	37	chr3	49011181	49011181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagactgtgccacaatcCggaaatggctcacgaagtgt	10	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:49011181C>T	uc003cvb.2	+	9	1132	c.820C>T	c.(820-822)CGG>TGG	p.R274W	ARIH2_uc003cvc.2_Missense_Mutation_p.R274W|ARIH2_uc003cvf.2_Missense_Mutation_p.R192W|ARIH2_uc010hkl.2_Missense_Mutation_p.R274W	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	274					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TGCCACAATCCGGAAATGGCT	0.423													T	49011181	C	T	49011181	3	4	94	1	0	0	0	0	1	0	0	0	924	643	23	1	846	1	ARIH2	3	49011181	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	320649	49011181	149011249	677	59810											
USP19	10869	broad.mit.edu	37	chr3	49148936	49148936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttcactggatcttaccttCgggtcgggacaccctctcgc	9	15	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:49148936C>T	uc003cwd.1	-	20	3066	c.2905G>A	c.(2905-2907)GAA>AAA	p.E969K	USP19_uc003cwa.2_Missense_Mutation_p.E777K|USP19_uc003cvz.3_Missense_Mutation_p.E1072K|USP19_uc011bcg.1_Missense_Mutation_p.E1060K|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.E727K|USP19_uc011bch.1_Missense_Mutation_p.E1070K	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	969	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCTTACCTTCGGGTCGGGAC	0.607													T	49148936	C	T	49148936	3	4	94	1	0	0	0	0	1	0	0	0	17047	893	31	1	1079	1	USP19	3	49148936	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	137755	49148936	148873494	678	59811											
LAMB2	3913	broad.mit.edu	37	chr3	49162247	49162247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccgtgtgggggtcacagGcatcaggatccattgggtca	15	11	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:49162247G>A	uc003cwe.2	-	21	3295	c.2996C>T	c.(2995-2997)GCC>GTC	p.A999V	LAMB2_uc003cwf.1_Missense_Mutation_p.A999V	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	999	Laminin EGF-like 10.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGGTCACAGGCATCAGGATC	0.617													A	49162247	G	A	49162247	3	1	94	1	0	0	0	0	1	0	0	0	8611	1203	42	2	2448	2	LAMB2	3	49162247	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	13311	49162247	148860183	679	59812											
USP4	7375	broad.mit.edu	37	chr3	49339872	49339872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagggctttttctttaccCggttcagatcttcatgcaat	8	9	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:49339872C>T	uc003cwq.2	-	10	1311	c.1232G>A	c.(1231-1233)CGG>CAG	p.R411Q	USP4_uc003cwo.2_Missense_Mutation_p.R141Q|USP4_uc003cwp.2_Missense_Mutation_p.R141Q|USP4_uc003cwr.2_Missense_Mutation_p.R364Q	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	411					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTTCTTTACCCGGTTCAGATC	0.463													T	49339872	C	T	49339872	3	4	94	1	0	0	0	0	1	0	0	0	17068	652	23	1	1711	1	USP4	3	49339872	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	177625	49339872	148682558	680	59813											
USP4	7375	broad.mit.edu	37	chr3	49373016	49373016	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcttgaaccaccggcTgtcaataagatacctagaga	8	12	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:49373016T>C	uc003cwq.2	-	2	194	c.115A>G	c.(115-117)AGC>GGC	p.S39G	USP4_uc003cwr.2_Missense_Mutation_p.S39G	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	39	DUSP.				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		AACCACCGGCTGTCAATAAGA	0.418													C	49373016	T	C	49373016	3	2	94	1	0	0	0	0	1	0	0	0	17068	1580	55	3	2860	3	USP4	3	49373016	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	33144	49373016	148649414	681	59814											
BSN	8927	broad.mit.edu	37	chr3	49699106	49699106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaaccaggtgtccttgaCgggcccacactgccctgctg	13	14	0	2	rs141529689		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:49699106C>T	uc003cxe.3	+	6	9942	c.9828C>T	c.(9826-9828)GAC>GAT	p.D3276D		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	3276					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GTGTCCTTGACGGGCCCACAC	0.637													T	49699106	C	T	49699106	2	4	94	1	0	0	0	0	0	0	0	1	1530	535	19	1		1	BSN	3	49699106	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	326090	49699106	148323324	682	59815											
MST1	4485	broad.mit.edu	37	chr3	49722070	49722070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcagatcagggccacacGctggttcagggtcacagatc	13	12	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:49722070G>A	uc003cxg.2	-	16	1861	c.1789C>T	c.(1789-1791)CGT>TGT	p.R597C		NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	583	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGGGCCACACGCTGGTTCAGG	0.587													A	49722070	G	A	49722070	3	1	94	1	0	0	0	0	1	0	0	0	9890	1087	38	1	400	1	MST1	3	49722070	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	22964	49722070	148300360	683	59816											
MST1	4485	broad.mit.edu	37	chr3	49722283	49722283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggttctggaacagggtgcCcaaccatacctcatagcccg	11	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:49722283C>T	uc003cxg.2	-	15	1729	c.1657G>A	c.(1657-1659)GGC>AGC	p.G553S		NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	539	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AACAGGGTGCCCAACCATACC	0.572													T	49722283	C	T	49722283	3	4	94	1	0	0	0	0	1	0	0	0	9890	623	22	4	536	4	MST1	3	49722283	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	213	49722283	148300147	684	59817											
MST1	4485	broad.mit.edu	37	chr3	49725025	49725025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacagcgcccagaacgccGcagcctcgtgtggggcgagt	15	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:49725025G>A	uc003cxg.2	-	3	391	c.319C>T	c.(319-321)CGG>TGG	p.R107W	MST1_uc011bcs.1_Missense_Mutation_p.R107W|MST1_uc010hkx.2_Silent_p.C17C|MST1_uc011bct.1_Missense_Mutation_p.R107W|MST1_uc011bcu.1_RNA|RNF123_uc003cxh.2_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	93	PAN.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCAGAACGCCGCAGCCTCGTG	0.602													A	49725025	G	A	49725025	3	1	94	1	0	0	0	0	1	0	0	0	9890	1086	38	1	1922	1	MST1	3	49725025	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2742	49725025	148297405	685	59818											
IP6K1	9807	broad.mit.edu	37	chr3	49764800	49764800	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagggagcaccatgtccaGgtgcttgagacgcatctcag	12	12	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:49764800G>T	uc003cxm.1	-	6	1396	c.1081C>A	c.(1081-1083)CTG>ATG	p.L361M	IP6K1_uc003cxn.1_Missense_Mutation_p.L196M|IP6K1_uc011bcv.1_Missense_Mutation_p.L196M|IP6K1_uc003cxo.2_3'UTR	NM_153273	NP_695005	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1 isoform 1	361					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						ACCATGTCCAGGTGCTTGAGA	0.632													T	49764800	G	T	49764800	3	4	94	1	0	0	0	0	1	0	0	0	7788	991	35	5	248	5	IP6K1	3	49764800	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	39775	49764800	148257630	686	59819											
CAMKV	79012	broad.mit.edu	37	chr3	49898998	49898998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatccagtcaaacacctcCctccccgtggccctgaggga	10	16	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:49898998C>T	uc003cxt.1	-	5	508	c.315G>A	c.(313-315)AGG>AGA	p.R105R	CAMKV_uc011bcy.1_Silent_p.R30R|CAMKV_uc003cxv.1_Silent_p.R105R|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Silent_p.R105R|CAMKV_uc011bcz.1_Silent_p.R68R|CAMKV_uc011bda.1_Intron|CAMKV_uc011bdb.1_Intron	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	105	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CAAACACCTCCCTCCCCGTGG	0.637													T	49898998	C	T	49898998	2	4	94	1	0	0	0	0	0	0	0	1	2608	622	22	4		4	CAMKV	3	49898998	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	134198	49898998	148123432	687	59820											
NPRL2	10641	broad.mit.edu	37	chr3	50385556	50385556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaaattctcctctgaccGttcatcaacatgctgcagct	6	14	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:50385556G>A	uc003daj.1	-	9	1334	c.931C>T	c.(931-933)CGG>TGG	p.R311W	ZMYND10_uc003dag.1_5'Flank|ZMYND10_uc010hll.1_5'Flank|ZMYND10_uc003dah.1_5'Flank|ZMYND10_uc010hlm.1_5'Flank|NPRL2_uc003dai.1_Missense_Mutation_p.R191W|CYB561D2_uc003dak.2_5'Flank|CYB561D2_uc003dal.2_5'Flank|CYB561D2_uc003dam.2_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	tumor suppressor candidate 4	311					negative regulation of kinase activity		protein binding|protein kinase activity			lung(1)	1						TCCTCTGACCGTTCATCAACA	0.572													A	50385556	G	A	50385556	3	1	94	1	0	0	0	0	1	0	0	0	10597	1159	40	1	223	1	NPRL2	3	50385556	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	486558	50385556	147636874	688	59821											
DOCK3	1795	broad.mit.edu	37	chr3	51392444	51392444	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgacgccatcctacagtgCgatgcccagtgtatcctttg	10	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:51392444C>T	uc011bds.1	+	41	4262	c.4239C>T	c.(4237-4239)TGC>TGT	p.C1413C		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1413	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCCTACAGTGCGATGCCCAGT	0.602													T	51392444	C	T	51392444	2	4	94	1	0	0	0	0	0	0	0	1	4688	776	27	1		1	DOCK3	3	51392444	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1006888	51392444	146629986	689	59822											
PARP3	10039	broad.mit.edu	37	chr3	51978417	51978417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggttgcagggagaggtcggCcagtcaaagatcaaccactt	13	10	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:51978417C>T	uc003dby.2	+	4	695	c.324C>T	c.(322-324)GGC>GGT	p.G108G	RRP9_uc003dbw.1_5'Flank|PARP3_uc003dbz.2_Silent_p.G115G	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	108					DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAGAGGTCGGCCAGTCAAAGA	0.557													T	51978417	C	T	51978417	2	4	94	1	0	0	0	0	0	0	0	1	11462	726	26	2		2	PARP3	3	51978417	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	585973	51978417	146044013	690	59823											
ALAS1	211	broad.mit.edu	37	chr3	52242221	52242221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggagggattggggatcggGatggagtcatgccaaaaatg	18	5	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:52242221G>A	uc003dcy.1	+	9	1625	c.1288G>A	c.(1288-1290)GAT>AAT	p.D430N	ALAS1_uc003dcz.1_Missense_Mutation_p.D430N|ALAS1_uc011bec.1_Missense_Mutation_p.D447N	NM_000688	NP_000679	P13196	HEM1_HUMAN	5-aminolevulinate synthase 1 precursor	430					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)|upper_aerodigestive_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGGGGATCGGGATGGAGTCAT	0.483													A	52242221	G	A	52242221	3	1	94	1	0	0	0	0	1	0	0	0	484	1174	41	4	1314	4	ALAS1	3	52242221	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	263804	52242221	145780209	691	59824											
DNAH1	25981	broad.mit.edu	37	chr3	52387194	52387194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagcgtctgactggctgCgctggtcggagagctggatg	16	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:52387194C>T	uc011bef.1	+	19	3364	c.3103C>T	c.(3103-3105)CGC>TGC	p.R1035C	DNAH1_uc003ddt.1_Missense_Mutation_p.R1035C	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1035	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGACTGGCTGCGCTGGTCGGA	0.577													T	52387194	C	T	52387194	3	4	94	1	0	0	0	0	1	0	0	0	4597	768	27	1	3173	1	DNAH1	3	52387194	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	144973	52387194	145635236	692	59825											
DNAH1	25981	broad.mit.edu	37	chr3	52428993	52428993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaagctgctagtcctccGctgcctgcgtggggacaagg	14	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:52428993G>A	uc011bef.1	+	68	11147	c.10886G>A	c.(10885-10887)CGC>CAC	p.R3629H	DNAH1_uc003ddv.2_Missense_Mutation_p.R487H	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3694					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTAGTCCTCCGCTGCCTGCGT	0.607													A	52428993	G	A	52428993	3	1	94	1	0	0	0	0	1	0	0	0	4597	1087	38	1	11152	1	DNAH1	3	52428993	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	41799	52428993	145593437	693	59826											
NEK4	6787	broad.mit.edu	37	chr3	52794938	52794938	+	Frame_Shift_Del	DEL	T	T	-													agtcaccatttttaatgttaTttttggaggtttttctttat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:52794938delT	uc003dfq.3	-	6	1025	c.836delA	c.(835-837)AATfs	p.N279fs	NEK4_uc011bej.1_Frame_Shift_Del_p.N190fs|NEK4_uc003dfr.2_Frame_Shift_Del_p.N279fs	NM_003157	NP_003148	P51957	NEK4_HUMAN	NIMA-related kinase 4	279					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TTTAATGTTATTTTTGGAGGT	0.348													-	52794938	T	-	52794938	7	5	94	1	0	1	0	1	0	0	0	0	10326	1493	52	0	1733	0	NEK4	3	52794938	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	365945	52794938	145227492	694	59827											
ITIH1	3697	broad.mit.edu	37	chr3	52821010	52821010	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtcatcccaggccctgCagatgtcgctggactatggg	12	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:52821010C>T	uc003dfs.2	+	14	1807	c.1783C>T	c.(1783-1785)CAG>TAG	p.Q595*	ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Nonsense_Mutation_p.Q196*|ITIH1_uc010hmo.1_Nonsense_Mutation_p.Q149*|ITIH1_uc003dfu.2_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	595	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CCAGGCCCTGCAGATGTCGCT	0.612													T	52821010	C	T	52821010	4	4	94	1	0	0	0	0	0	1	0	0	7903	711	25	2	1837	2	ITIH1	3	52821010	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	26072	52821010	145201420	695	59828											
SFMBT1	51460	broad.mit.edu	37	chr3	52941168	52941168	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctttgtctatctggaggcaGcgatgtggatatctcacttt	10	9	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:52941168G>T	uc003dgf.2	-	20	2817	c.2248C>A	c.(2248-2250)CTG>ATG	p.L750M	SFMBT1_uc010hmr.2_Missense_Mutation_p.L697M|SFMBT1_uc003dgg.2_Missense_Mutation_p.L750M|SFMBT1_uc003dgh.2_Missense_Mutation_p.L750M	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	750					regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TCTGGAGGCAGCGATGTGGAT	0.423													T	52941168	G	T	52941168	3	4	94	1	0	0	0	0	1	0	0	0	14157	962	34	5	364	5	SFMBT1	3	52941168	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	120158	52941168	145081262	696	59829											
SFMBT1	51460	broad.mit.edu	37	chr3	52950206	52950206	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgattcctcaggccctcGtggacagtcctcgaggatgg	12	13	1	1	rs151052292	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:52950206G>A	uc003dgf.2	-	15	2009	c.1440C>T	c.(1438-1440)CAC>CAT	p.H480H	SFMBT1_uc010hmr.2_Silent_p.H427H|SFMBT1_uc003dgg.2_Silent_p.H480H|SFMBT1_uc003dgh.2_Silent_p.H480H	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	480					regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TCAGGCCCTCGTGGACAGTCC	0.403													A	52950206	G	A	52950206	2	1	94	1	0	0	0	0	0	0	0	1	14157	1136	40	1		1	SFMBT1	3	52950206	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	9038	52950206	145072224	697	59830											
TKT	7086	broad.mit.edu	37	chr3	53275202	53275202	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcaggttcagcagctcCgcctcggccaggaaaccagc	10	16	2	0	rs140341715	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:53275202C>T	uc003dgo.2	-	3	395	c.285G>A	c.(283-285)GCG>GCA	p.A95A	TKT_uc011beo.1_Silent_p.A48A|TKT_uc003dgq.2_Silent_p.A95A|TKT_uc011beq.1_Silent_p.A95A|TKT_uc011ber.1_5'UTR|TKT_uc011bep.1_Intron	NM_001135055	NP_001128527	P29401	TKT_HUMAN	transketolase isoform 1	95					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			ovary(2)	2		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	TCAGCAGCTCCGCCTCGGCCA	0.652													T	53275202	C	T	53275202	2	4	94	1	0	0	0	0	0	0	0	1	15931	639	23	1		1	TKT	3	53275202	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	324996	53275202	144747228	698	59831											
CACNA1D	776	broad.mit.edu	37	chr3	53766961	53766961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccatccctgaagggagcGctttcttcattcttagcaag	8	14	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:53766961G>A	uc003dgv.3	+	19	2756	c.2593G>A	c.(2593-2595)GCT>ACT	p.A865T	CACNA1D_uc003dgu.3_Missense_Mutation_p.A885T|CACNA1D_uc003dgy.3_Missense_Mutation_p.A865T|CACNA1D_uc003dgw.3_Missense_Mutation_p.A532T|CACNA1D_uc003dgx.1_Missense_Mutation_p.A13T	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	865	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGAAGGGAGCGCTTTCTTCAT	0.507													A	53766961	G	A	53766961	3	1	94	1	0	0	0	0	1	0	0	0	2541	1087	38	1	2839	1	CACNA1D	3	53766961	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	491759	53766961	144255469	699	59832											
CACNA1D	776	broad.mit.edu	37	chr3	53845159	53845159	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctgatatccgaaggctTgggacgctatgcaagggacc	14	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:53845159T>C	uc003dgv.3	+	48	6375	c.6212T>C	c.(6211-6213)TTG>TCG	p.L2071S	CACNA1D_uc003dgu.3_Missense_Mutation_p.L2091S|CACNA1D_uc003dgy.3_Missense_Mutation_p.L2047S|CACNA1D_uc003dgw.3_Missense_Mutation_p.L1738S|CACNA1D_uc011bes.1_RNA	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	2071	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCCGAAGGCTTGGGACGCTAT	0.517													C	53845159	T	C	53845159	3	2	94	1	0	0	0	0	1	0	0	0	2541	1821	63	3	6574	3	CACNA1D	3	53845159	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	78198	53845159	144177271	700	59833											
LRTM1	57408	broad.mit.edu	37	chr3	54952604	54952604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataggtgcagccatagatgGcagctgccaacatcatgaga	11	10	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:54952604G>A	uc003dhl.2	-	3	1054	c.920C>T	c.(919-921)GCC>GTC	p.A307V	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	307	Helical; (Potential).					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GCCATAGATGGCAGCTGCCAA	0.537													A	54952604	G	A	54952604	3	1	94	1	0	0	0	0	1	0	0	0	9044	1203	42	2	121	2	LRTM1	3	54952604	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1107445	54952604	143069826	701	59834											
WNT5A	7474	broad.mit.edu	37	chr3	55504262	55504262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcacatgagctcgcagCcatccatgccctccgacgtc	9	18	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:55504262C>T	uc003dhn.2	-	5	1319	c.1001G>A	c.(1000-1002)GGC>GAC	p.G334D	WNT5A_uc003dhm.2_Missense_Mutation_p.G319D|WNT5A_uc010hmw.2_Missense_Mutation_p.G319D|WNT5A_uc010hmx.2_Missense_Mutation_p.G245D	NM_003392	NP_003383	P41221	WNT5A_HUMAN	wingless-type MMTV integration site family,	334					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		GAGCTCGCAGCCATCCATGCC	0.637													T	55504262	C	T	55504262	3	4	94	1	0	0	0	0	1	0	0	0	17388	739	26	2	145	2	WNT5A	3	55504262	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	551658	55504262	142518168	702	59835											
ERC2	26059	broad.mit.edu	37	chr3	55922525	55922525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggcgaggcgtgctttgGtggcatccagttcctgtctg	16	9	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:55922525G>A	uc003dhr.1	-	14	2712	c.2456C>T	c.(2455-2457)ACC>ATC	p.T819I	ERC2_uc003dhq.1_RNA|ERC2_uc003dht.1_Missense_Mutation_p.T298I	NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	819	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCGTGCTTTGGTGGCATCCAG	0.522													A	55922525	G	A	55922525	3	1	94	1	0	0	0	0	1	0	0	0	5211	1261	44	4	433	4	ERC2	3	55922525	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	418263	55922525	142099905	703	59836											
ARHGEF3	50650	broad.mit.edu	37	chr3	56766423	56766423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggctcgagtgatcacaagCacttcttggaacaggaaaac	10	10	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:56766423C>T	uc003dig.2	-	9	1240	c.1071G>A	c.(1069-1071)GTG>GTA	p.V357V	ARHGEF3_uc011bew.1_Silent_p.V357V|ARHGEF3_uc003dih.2_Silent_p.V389V|ARHGEF3_uc011bev.1_Silent_p.V328V|ARHGEF3_uc003dif.2_Silent_p.V363V|ARHGEF3_uc010hmy.1_Silent_p.V155V|ARHGEF3_uc003dii.2_Silent_p.V357V	NM_019555	NP_062455	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor 3 isoform	357	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TGATCACAAGCACTTCTTGGA	0.468													T	56766423	C	T	56766423	2	4	94	1	0	0	0	0	0	0	0	1	904	697	25	2		2	ARHGEF3	3	56766423	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	843898	56766423	141256007	704	59837											
APPL1	26060	broad.mit.edu	37	chr3	57271572	57271572	+	Frame_Shift_Del	DEL	A	A	-													aaaacttttaaaagaatatgAaaaacaggtattgtatatca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:57271572delA	uc003dio.2	+	3	353	c.206delA	c.(205-207)GAAfs	p.E69fs	APPL1_uc010hnb.2_Frame_Shift_Del_p.E69fs|APPL1_uc011bey.1_Frame_Shift_Del_p.E52fs	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH	69	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		AAAGAATATGAAAAACAGGTA	0.264													-	57271572	A	-	57271572	7	5	94	1	0	1	0	1	0	0	0	0	817	246	9	0	216	0	APPL1	3	57271572	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	505149	57271572	140750858	705	59838											
FLNB	2317	broad.mit.edu	37	chr3	58080594	58080594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggaaacatggtgaagcaGccagccaagttcactgtgga	12	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:58080594G>A	uc003djj.2	+	5	984	c.819G>A	c.(817-819)CAG>CAA	p.Q273Q	FLNB_uc010hne.2_Silent_p.Q273Q|FLNB_uc003djk.2_Silent_p.Q273Q|FLNB_uc010hnf.2_Silent_p.Q273Q|FLNB_uc003djl.2_Silent_p.Q104Q|FLNB_uc003djm.2_Silent_p.Q104Q	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	273	Filamin 1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGTGAAGCAGCCAGCCAAGT	0.547													A	58080594	G	A	58080594	2	1	94	1	0	0	0	0	0	0	0	1	5934	962	34	2		2	FLNB	3	58080594	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	809022	58080594	139941836	706	59839											
FLNB	2317	broad.mit.edu	37	chr3	58089788	58089788	+	Frame_Shift_Del	DEL	G	G	-													atacagcattgccatcacatGggggggacaccacattccaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:58089787_58089787TG>T	uc003djj.2	+	9	1750	c.1585_1585TG>T	c.(1585-1587)tggfs	p.W529fs	FLNB_uc010hne.2_Frame_Shift_Del_p.W529fs|FLNB_uc003djk.2_Frame_Shift_Del_p.W529fs|FLNB_uc010hnf.2_Frame_Shift_Del_p.W529fs|FLNB_uc003djl.2_Frame_Shift_Del_p.W360fs|FLNB_uc003djm.2_Frame_Shift_Del_p.W360fs	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	529					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGCCATCACATGGGGGGGACA	0.592													-	58089788	G	-	58089788	7	5	94	1	0	1	0	1	0	0	0	0	5934	1357	47	0	1624	0	FLNB	3	58089788	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	9194	58089788	139932642	707	59840											
PTPRG	5793	broad.mit.edu	37	chr3	62189140	62189140	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagtcctagccaccacagaGgccttggcttctccagggcc	10	17	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:62189140G>T	uc003dlb.2	+	12	2390	c.1671G>T	c.(1669-1671)GAG>GAT	p.E557D	PTPRG_uc003dlc.2_Missense_Mutation_p.E557D	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	557	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCACCACAGAGGCCTTGGCTT	0.537													T	62189140	G	T	62189140	3	4	94	1	0	0	0	0	1	0	0	0	12802	991	35	5	1717	5	PTPRG	3	62189140	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4099352	62189140	135833290	708	59841											
FEZF2	55079	broad.mit.edu	37	chr3	62358365	62358365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggttgagcagtttcttgCcctggctgccgtccgcctct	12	13	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:62358365C>T	uc003dlh.2	-	1	386	c.179G>A	c.(178-180)GGC>GAC	p.G60D	FEZF2_uc003dli.2_Missense_Mutation_p.G60D	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	60					transcription, DNA-dependent	nucleus	zinc ion binding			lung(1)	1		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CAGTTTCTTGCCCTGGCTGCC	0.637													T	62358365	C	T	62358365	3	4	94	1	0	0	0	0	1	0	0	0	5826	739	26	2	1216	2	FEZF2	3	62358365	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	169225	62358365	135664065	709	59842											
CADPS	8618	broad.mit.edu	37	chr3	62535763	62535763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctccctccttgacagcaTtgaagaaggctcggccaccc	9	15	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:62535763T>C	uc003dll.2	-	11	2141	c.1781A>G	c.(1780-1782)AAT>AGT	p.N594S	CADPS_uc003dlk.1_Missense_Mutation_p.N98S|CADPS_uc003dlm.2_Missense_Mutation_p.N594S|CADPS_uc003dln.2_Missense_Mutation_p.N594S	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	594	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTTGACAGCATTGAAGAAGGC	0.522													C	62535763	T	C	62535763	3	2	94	1	0	0	0	0	1	0	0	0	2570	1493	52	3	2433	3	CADPS	3	62535763	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	177398	62535763	135486667	710	59843											
THOC7	80145	broad.mit.edu	37	chr3	63820861	63820861	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaagttcatggatggtActaagaagaacatgaaactg	11	5	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:63820861A>T	uc003dlt.3	-	7	647	c.516T>A	c.(514-516)AGT>AGA	p.S172R	C3orf49_uc003dls.3_Intron|THOC7_uc003dlu.3_Missense_Mutation_p.S109R	NM_025075	NP_079351	Q6I9Y2	THOC7_HUMAN	Ngg1 interacting factor 3 like 1 binding protein	172	Potential.|Interaction with NIF3L1.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		CATGGATGGTACTAAGAAGAA	0.294													T	63820861	A	T	63820861	3	4	94	1	0	0	0	0	1	0	0	0	15867	388	14	5	106	5	THOC7	3	63820861	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1285098	63820861	134201569	711	59844											
SLC25A26	115286	broad.mit.edu	37	chr3	66428187	66428187	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttctgggggcttatgacCgaacgcacagcttgctgttg	12	10	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:66428187C>T	uc011bfq.1	+	11	1509	c.781C>T	c.(781-783)CGA>TGA	p.R261*	SLC25A26_uc011bfs.1_Nonsense_Mutation_p.R173*|SLC25A26_uc011bft.1_RNA|SLC25A26_uc011bfr.1_Nonsense_Mutation_p.R261*|SLC25A26_uc003dmt.2_3'UTR	NM_173471	NP_775742	Q70HW3	SAMC_HUMAN	solute carrier family 25, member 26 isoform a	261	Solcar 3.					integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity			pancreas(1)	1		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		GGCTTATGACCGAACGCACAG	0.498													T	66428187	C	T	66428187	4	4	94	1	0	0	0	0	0	1	0	0	14489	644	23	1	621	1	SLC25A26	3	66428187	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2607326	66428187	131594243	712	59845											
KBTBD8	84541	broad.mit.edu	37	chr3	67054660	67054663	+	Frame_Shift_Del	DEL	TGTT	TGTT	-													agagagaattgttggacgacTgtttgcgcgatgccagttgc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:67054660_67054663delTGTT	uc003dmy.2	+	3	1322_1325	c.1269_1272delTGTT	c.(1267-1272)ACTGTTfs	p.T423fs	KBTBD8_uc011bfv.1_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	T-cell activation kelch repeat protein	423_424	Kelch 2.									ovary(2)|large_intestine(1)|breast(1)	4		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GTTGGACGACTGTTTGCGCGATGC	0.407													-	67054663	TGTT	-	67054660	7	5	94	1	0	1	0	1	0	0	0	0	7999	1567	55	0	1279	0	KBTBD8	3	67054660	Frame_Shift_Del	DEL	TGTT	TCGA-BR-8487-01A-11D-2394-08	626473	67054660	130967770	713	59846											
CHMP2B	25978	broad.mit.edu	37	chr3	87295032	87295032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaattcccaaatgaagatgGctggagcaatgtctactaca	9	8	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:87295032G>A	uc003dqp.3	+	3	555	c.295G>A	c.(295-297)GCT>ACT	p.A99T	CHMP2B_uc011bgn.1_Missense_Mutation_p.A58T	NM_014043	NP_054762	Q9UQN3	CHM2B_HUMAN	chromatin modifying protein 2B	99					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding			skin(2)|ovary(1)	3	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AATGAAGATGGCTGGAGCAAT	0.318													A	87295032	G	A	87295032	3	1	94	1	0	0	0	0	1	0	0	0	3355	1203	42	2	305	2	CHMP2B	3	87295032	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	20240372	87295032	110727398	714	59847											
HTR1F	3355	broad.mit.edu	37	chr3	88040889	88040889	+	Frame_Shift_Del	DEL	T	T	-													atttctgaagaaatgtccaaTtttttggcatggcttgggta							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:88040889delT	uc003dqr.2	+	2	1148	c.990delT	c.(988-990)AATfs	p.N330fs		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	330	Helical; Name=7; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AAATGTCCAATTTTTTGGCAT	0.323													-	88040889	T	-	88040889	7	5	94	1	0	1	0	1	0	0	0	0	7440	1490	52	0	992	0	HTR1F	3	88040889	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	745857	88040889	109981541	715	59848											
EPHA3	2042	broad.mit.edu	37	chr3	89468423	89468423	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagatttcagtggccattAagaccctgaaagttggctac	10	8	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:89468423A>G	uc003dqy.2	+	11	2182	c.1957A>G	c.(1957-1959)AAG>GAG	p.K653E	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	653	Cytoplasmic (Potential).|Protein kinase.	ATP (By similarity).				extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AGTGGCCATTAAGACCCTGAA	0.428										TSP Lung(6;0.00050)			G	89468423	A	G	89468423	3	3	94	1	0	0	0	0	1	0	0	0	5168	363	13	3	2025	3	EPHA3	3	89468423	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1427534	89468423	108554007	716	59849											
EPHA3	2042	broad.mit.edu	37	chr3	89521697	89521697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcttaatggtgtctggaCagcacactgcaaggaaatct	11	9	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:89521697C>T	uc003dqy.2	+	16	2999	c.2774C>T	c.(2773-2775)ACA>ATA	p.T925I	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	925	Cytoplasmic (Potential).|SAM.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GGTGTCTGGACAGCACACTGC	0.418										TSP Lung(6;0.00050)			T	89521697	C	T	89521697	3	4	94	1	0	0	0	0	1	0	0	0	5168	478	17	4	2862	4	EPHA3	3	89521697	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	53274	89521697	108500733	717	59850											
NSUN3	63899	broad.mit.edu	37	chr3	93783345	93783346	+	Frame_Shift_Ins	INS	-	-	A													gttgtgttggatcattttgaINSaaaacagtattccaaagaac							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:93783344_93783345G>GA	uc003drl.1	+	1	192_193	c.76_77G>GA	c.(76-78)gaafs	p.E26fs	DHFRL1_uc003dri.3_5'Flank|DHFRL1_uc003drj.3_5'Flank|DHFRL1_uc021xbk.1_5'Flank	NM_022072	NP_071355	Q9H649	NSUN3_HUMAN	Homo sapiens NOP2/Sun domain family, member 3 (NSUN3), mRNA.	26							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						GGATCATTTTGAAAAACAGTAT	0.371													A	93783346	-	A	93783345	7	5	94	1	0	1	1	0	0	0	0	0	10679	246	9	0	83	0	NSUN3	3	93783345	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	4261648	93783345	104239085	718	59851											
DCBLD2	131566	broad.mit.edu	37	chr3	98568318	98568318	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattaccttgtttatctatAacagagtatgaggccaaaaa	6	6	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:98568318A>G	uc003dtd.2	-	3	921	c.558T>C	c.(556-558)GTT>GTC	p.V186V	DCBLD2_uc003dte.2_Silent_p.V186V|DCBLD2_uc003dtf.1_RNA	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	186	Extracellular (Potential).|CUB.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3						GTTTATCTATAACAGAGTATG	0.328													G	98568318	A	G	98568318	2	3	94	1	0	0	0	0	0	0	0	1	4281	349	13	3		3	DCBLD2	3	98568318	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	4784973	98568318	99454112	719	59852											
COL8A1	1295	broad.mit.edu	37	chr3	99514822	99514822	+	Frame_Shift_Del	DEL	A	A	-													tgtacacgtacgacgagtacAaaaagggcttcctggaccag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:99514821_99514821CA>C	uc003dti.1	+	2	2207	c.2079_2079CA>C	c.(2077-2079)tacfs	p.Y693fs	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Frame_Shift_Del_p.Y692fs|COL8A1_uc003dth.1_Frame_Shift_Del_p.Y692fs	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	692	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ACGACGAGTACAAAAAGGGCT	0.567													-	99514822	A	-	99514822	7	5	94	1	0	1	0	1	0	0	0	0	3705	131	5	0	2083	0	COL8A1	3	99514822	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	946504	99514822	98507608	720	59853											
C3orf26	84319	broad.mit.edu	37	chr3	99881236	99881236	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaaggactattatagcagCagacgcttggtgattgaatt	11	5	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:99881236C>T	uc003dtl.2	+	4	458	c.315C>T	c.(313-315)AGC>AGT	p.S105S		NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	hypothetical protein LOC84319	105							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(1)	1						ATTATAGCAGCAGACGCTTGG	0.383													T	99881236	C	T	99881236	2	4	94	1	0	0	0	0	0	0	0	1	2218	709	25	2		2	C3orf26	3	99881236	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	366414	99881236	98141194	721	59854											
GPR128	84873	broad.mit.edu	37	chr3	100354601	100354601	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgccaataaattaactgcTgagaacatcactagtgctac	7	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:100354601T>C	uc003duc.2	+	5	796	c.528T>C	c.(526-528)GCT>GCC	p.A176A	GPR128_uc011bhc.1_5'UTR	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	176	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4						AATTAACTGCTGAGAACATCA	0.358													C	100354601	T	C	100354601	2	2	94	1	0	0	0	0	0	0	0	1	6641	1567	55	3		3	GPR128	3	100354601	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	473365	100354601	97667829	722	59855											
ABI3BP	25890	broad.mit.edu	37	chr3	100471644	100471644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttacctgtgagggagtcGctcaagtaaatcttgtatct	10	8	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:100471644G>A	uc003dun.2	-	33	3061	c.2976C>T	c.(2974-2976)AGC>AGT	p.S992S	ABI3BP_uc003duj.2_Silent_p.S572S|ABI3BP_uc003duk.2_Silent_p.S701S|ABI3BP_uc003dul.2_Silent_p.S822S|ABI3BP_uc011bhd.1_Silent_p.S946S|ABI3BP_uc003dum.2_Silent_p.S403S	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	992						extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						TGAGGGAGTCGCTCAAGTAAA	0.413													A	100471644	G	A	100471644	2	1	94	1	0	0	0	0	0	0	0	1	91	1078	38	1		1	ABI3BP	3	100471644	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	117043	100471644	97550786	723	59856											
SENP7	57337	broad.mit.edu	37	chr3	101085430	101085430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggtttcagtggttgaacCggcagaggcacttttggtgg	15	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:101085430C>T	uc003dut.2	-	9	1273	c.1162G>A	c.(1162-1164)GGT>AGT	p.G388S	SENP7_uc003duu.2_Missense_Mutation_p.G323S|SENP7_uc003duv.2_Missense_Mutation_p.G355S|SENP7_uc003duw.2_Missense_Mutation_p.G322S|SENP7_uc003dux.2_Missense_Mutation_p.G224S	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	388					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						GTGGTTGAACCGGCAGAGGCA	0.383													T	101085430	C	T	101085430	3	4	94	1	0	0	0	0	1	0	0	0	14051	652	23	1	2054	1	SENP7	3	101085430	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	613786	101085430	96937000	724	59857											
CEP97	79598	broad.mit.edu	37	chr3	101474321	101474321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcaaggggagagcatatcGgcctggccagcacatccagc	14	12	0	1	rs144348649		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:101474321G>A	uc003dvk.1	+	7	803	c.776G>A	c.(775-777)CGG>CAG	p.R259Q	CEP97_uc010hpm.1_Missense_Mutation_p.R225Q|CEP97_uc011bhf.1_Missense_Mutation_p.R259Q|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Missense_Mutation_p.R97Q	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	259						centrosome|nucleus	protein binding			ovary(2)	2						AGAGCATATCGGCCTGGCCAG	0.478													A	101474321	G	A	101474321	3	1	94	1	0	0	0	0	1	0	0	0	3263	1116	39	1	802	1	CEP97	3	101474321	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	388891	101474321	96548109	725	59858											
ALCAM	214	broad.mit.edu	37	chr3	105266081	105266081	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgaaactgctctgcaggAggttgaaggactaaagaaaa	12	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:105266081A>G	uc003dvx.2	+	10	1733	c.1193A>G	c.(1192-1194)GAG>GGG	p.E398G	ALCAM_uc003dvw.1_Missense_Mutation_p.E398G|ALCAM_uc003dvy.2_Missense_Mutation_p.E398G|ALCAM_uc010hpp.2_Missense_Mutation_p.E120G|ALCAM_uc003dvz.2_Missense_Mutation_p.E32G	NM_001627	NP_001618	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	398	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(2)|breast(1)	3						GCTCTGCAGGAGGTTGAAGGA	0.368													G	105266081	A	G	105266081	3	3	94	1	0	0	0	0	1	0	0	0	487	304	11	3	1231	3	ALCAM	3	105266081	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	3791760	105266081	92756349	726	59859											
DZIP3	9666	broad.mit.edu	37	chr3	108363512	108363512	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgcaagaggatattgAcaaagtgaaggagaatccca	12	5	0	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:108363512A>G	uc003dxd.2	+	14	2065	c.1643A>G	c.(1642-1644)GAC>GGC	p.D548G	DZIP3_uc003dxf.1_Missense_Mutation_p.D548G|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.D548G|DZIP3_uc003dxg.1_Missense_Mutation_p.D271G	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	548					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GAGGATATTGACAAAGTGAAG	0.393													G	108363512	A	G	108363512	3	3	94	1	0	0	0	0	1	0	0	0	4865	275	10	3	1693	3	DZIP3	3	108363512	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	3097431	108363512	89658918	727	59860											
DPPA2	151871	broad.mit.edu	37	chr3	109028028	109028028	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtactaaccttgccattagTactcaaaccgagttgttgac	7	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:109028028T>C	uc003dxo.2	-	4	578	c.331A>G	c.(331-333)ACT>GCT	p.T111A		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	111	SAP.					nucleus	nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)	3						TTGCCATTAGTACTCAAACCG	0.433													C	109028028	T	C	109028028	3	2	94	1	0	0	0	0	1	0	0	0	4734	1638	57	3	585	3	DPPA2	3	109028028	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	664516	109028028	88994402	728	59861											
PVRL3	25945	broad.mit.edu	37	chr3	110830886	110830886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctccataggtgccttagCtggaccaattattgtggagc	10	10	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:110830886C>T	uc003dxt.1	+	2	170	c.170C>T	c.(169-171)GCT>GTT	p.A57V	PVRL3_uc003dxu.1_Missense_Mutation_p.A34V	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3 precursor	57					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			upper_aerodigestive_tract(2)	2						GGTGCCTTAGCTGGACCAATT	0.373													T	110830886	C	T	110830886	3	4	94	1	0	0	0	0	1	0	0	0	12841	797	28	2	176	2	PVRL3	3	110830886	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1802858	110830886	87191544	729	59862											
CCDC80	151887	broad.mit.edu	37	chr3	112337840	112337840	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctcagatccacatctgttAgcaccatgaagaagtcattg	7	11	3	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:112337840A>G	uc003dzf.2	-	4	2365	c.2147T>C	c.(2146-2148)CTA>CCA	p.L716P	CCDC80_uc011bhv.1_Missense_Mutation_p.L716P|CCDC80_uc003dzg.2_Missense_Mutation_p.L716P|CCDC80_uc003dzh.1_Missense_Mutation_p.L716P	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	716										ovary(2)	2						CACATCTGTTAGCACCATGAA	0.413													G	112337840	A	G	112337840	3	3	94	1	0	0	0	0	1	0	0	0	2854	420	15	3	725	3	CCDC80	3	112337840	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1506954	112337840	85684590	730	59863											
BOC	91653	broad.mit.edu	37	chr3	113003402	113003402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagcagcactgcccaggCgagcttcagcaggtagcgca	12	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:113003402C>T	uc003dzx.2	+	17	3495	c.2874C>T	c.(2872-2874)GGC>GGT	p.G958G	BOC_uc003dzy.2_Silent_p.G958G|BOC_uc003dzz.2_Silent_p.G959G|BOC_uc003eab.2_Silent_p.G659G|BOC_uc003eac.2_Silent_p.G273G	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	958	Cytoplasmic (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			ACTGCCCAGGCGAGCTTCAGC	0.662													T	113003402	C	T	113003402	2	4	94	1	0	0	0	0	0	0	0	1	1481	755	27	1		1	BOC	3	113003402	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	665562	113003402	85019028	731	59864											
SIDT1	54847	broad.mit.edu	37	chr3	113327011	113327011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctgctgatagtcttgCgccgcgacatcctccatcgg	9	15	2	1	rs141213900	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:113327011C>T	uc003eak.2	+	16	2200	c.1549C>T	c.(1549-1551)CGC>TGC	p.R517C	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.R517C|SIDT1_uc011big.1_Missense_Mutation_p.R270C|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	517	Cytoplasmic (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						GATAGTCTTGCGCCGCGACAT	0.532													T	113327011	C	T	113327011	3	4	94	1	0	0	0	0	1	0	0	0	14302	768	27	1	1611	1	SIDT1	3	113327011	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	323609	113327011	84695419	732	59865											
KIAA2018	205717	broad.mit.edu	37	chr3	113376978	113376979	+	Frame_Shift_Del	DEL	CT	CT	-													cttctgcctgtcctgtgccaCtctctttaggtatctgtgat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:113376978_113376979delCT	uc003eam.2	-	7	3961_3962	c.3550_3551delAG	c.(3550-3552)AGTfs	p.S1184fs	KIAA2018_uc003eal.2_Frame_Shift_Del_p.S1128fs	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1184					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						TCCTGTGCCACTCTCTTTAGGT	0.45													-	113376979	CT	-	113376978	7	5	94	1	0	1	0	1	0	0	0	0	8268	565	20	0	3190	0	KIAA2018	3	113376978	Frame_Shift_Del	DEL	CT	TCGA-BR-8487-01A-11D-2394-08	49967	113376978	84645452	733	59866											
ZDHHC23	254887	broad.mit.edu	37	chr3	113672641	113672641	+	Frame_Shift_Del	DEL	A	A	-													ttccttggcttaggggagccAaaaaagtgaacatcagcatc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:113672640_113672640CA>C	uc003eau.3	+	2	554	c.255_255CA>C	c.(253-255)gccfs	p.A85fs	ZDHHC23_uc003eav.3_Frame_Shift_Del_p.A79fs	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	Homo sapiens zinc finger, DHHC-type containing 23 (ZDHHC23), mRNA.	85						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						TTAGGGGAGCCAAAAAAGTGA	0.468													-	113672641	A	-	113672641	7	5	94	1	0	1	0	1	0	0	0	0	17611	131	5	0	262	0	ZDHHC23	3	113672641	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	295663	113672641	84349789	734	59867											
KIAA1407	57577	broad.mit.edu	37	chr3	113697048	113697048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacctgtcactgtgctccGctgcaatctcatgcttgccc	7	17	3	0	rs145062166	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:113697048G>A	uc003eax.2	-	16	2738	c.2591C>T	c.(2590-2592)GCG>GTG	p.A864V	KIAA1407_uc011bin.1_RNA	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	864										ovary(2)	2						ACTGTGCTCCGCTGCAATCTC	0.423													A	113697048	G	A	113697048	3	1	94	1	0	0	0	0	1	0	0	0	8229	1087	38	1	227	1	KIAA1407	3	113697048	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	24407	113697048	84325382	735	59868											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-													cacctgggggtgtgcctgcaGggggggtcccattgctggca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:114058003delG	uc003ebi.2	-	5	2255	c.2075delC	c.(2074-2076)CCTfs	p.P692fs	ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P619fs	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632													-	114058003	G	-	114058003	7	5	94	1	0	1	0	1	0	0	0	0	17526	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	360955	114058003	83964427	736	59869											
TMEM39A	55254	broad.mit.edu	37	chr3	119165958	119165958	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccacacaaagtgagtagtAccaagcgagctgatatcaga	9	9	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:119165958A>G	uc003eck.1	-	5	845	c.482T>C	c.(481-483)GTA>GCA	p.V161A	TMEM39A_uc003ecl.1_Missense_Mutation_p.V9A	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	161	Helical; (Potential).					integral to membrane				ovary(1)|breast(1)	2				GBM - Glioblastoma multiforme(114;0.244)		AGTGAGTAGTACCAAGCGAGC	0.438													G	119165958	A	G	119165958	3	3	94	1	0	0	0	0	1	0	0	0	16158	391	14	3	1004	3	TMEM39A	3	119165958	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	5107955	119165958	78856472	737	59870											
ADPRH	141	broad.mit.edu	37	chr3	119305247	119305247	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccatgcgggccatgtgcatCggtctcaggttcccacacca	11	15	1	0	rs146369894	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:119305247C>T	uc003ecs.2	+	4	712	c.414C>T	c.(412-414)ATC>ATT	p.I138I	ADPRH_uc010hqv.2_Silent_p.I138I|ADPRH_uc011bjb.1_Silent_p.I31I|ADPRH_uc003ect.2_Silent_p.I138I	NM_001125	NP_001116	P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	138					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			ovary(1)	1		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CCATGTGCATCGGTCTCAGGT	0.612													T	119305247	C	T	119305247	2	4	94	1	0	0	0	0	0	0	0	1	331	874	31	1		1	ADPRH	3	119305247	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	139289	119305247	78717183	738	59871											
PLA1A	51365	broad.mit.edu	37	chr3	119325724	119325724	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttctcctctttgtcccttcGaatcctagctgtgggcagct	8	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:119325724G>A	uc003ecu.2	+	2	216	c.177G>A	c.(175-177)TCG>TCA	p.S59S	PLA1A_uc003ecv.2_Silent_p.S59S|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Intron	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN	phospholipase A1 member A precursor	59					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						TTGTCCCTTCGAATCCTAGCT	0.502													A	119325724	G	A	119325724	2	1	94	1	0	0	0	0	0	0	0	1	11988	1045	37	1		1	PLA1A	3	119325724	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	20477	119325724	78696706	739	59872											
STXBP5L	9515	broad.mit.edu	37	chr3	121132132	121132132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctcctactgaaattcagCggttaacatacagccaagaa	6	11	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:121132132C>T	uc003eec.3	+	25	3288	c.3148C>T	c.(3148-3150)CGG>TGG	p.R1050W	STXBP5L_uc011bji.1_Missense_Mutation_p.R1026W	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1050	WD 14.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		TGAAATTCAGCGGTTAACATA	0.383													T	121132132	C	T	121132132	3	4	94	1	0	0	0	0	1	0	0	0	15356	759	27	1	3242	1	STXBP5L	3	121132132	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1806408	121132132	76890298	740	59873											
POLQ	10721	broad.mit.edu	37	chr3	121151775	121151777	+	In_Frame_Del	DEL	TCT	TCT	-													gcaaaaatacctgaacaacaTcttcttctgccacttcatat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:121151774_121151776ATCT>A	uc003eee.4	-	28	7777_7779	c.7648_7650AGAT>T	c.(7648-7650)gat>T	p.D2550del	POLQ_uc003eed.3_In_Frame_Del_p.D1722del	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	2550					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCTGAACAACATCTTCTTCTGCC	0.438								DNA polymerases (catalytic subunits)					-	121151777	TCT	-	121151775	7	5	94	1	0	1	0	1	0	0	0	0	12208	1435	50	0	131	0	POLQ	3	121151775	In_Frame_Del	DEL	TCT	TCGA-BR-8487-01A-11D-2394-08	19643	121151775	76870655	741	59874											
IQCB1	9657	broad.mit.edu	37	chr3	121500637	121500637	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtttcttcagttcaactcGgcgtgcatcagtgagttctt	9	10	5	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:121500637G>A	uc010hre.1	-	13	1578	c.1363C>T	c.(1363-1365)CGA>TGA	p.R455*	IQCB1_uc003eek.2_Nonsense_Mutation_p.R322*|IQCB1_uc010hrf.1_RNA	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	IQ motif containing B1 isoform a	455					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding				0				GBM - Glioblastoma multiforme(114;0.0983)		AGTTCAACTCGGCGTGCATCA	0.403													A	121500637	G	A	121500637	4	1	94	1	0	0	0	0	0	1	0	0	7803	1124	39	1	445	1	IQCB1	3	121500637	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	348862	121500637	76521793	742	59875											
PARP14	54625	broad.mit.edu	37	chr3	122432364	122432366	+	In_Frame_Del	DEL	AAG	AAG	-													ggcttctggagatatcacgaAagaagaggcagatgtgattg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:122432363_122432365AAAG>A	uc003efq.4	+	9	3771_3773	c.3712_3714AAAG>A	c.(3712-3714)aaa>A	p.K1238del	PARP14_uc021xdc.1_In_Frame_Del_p.K1102del|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_In_Frame_Del_p.K955del|PARP14_uc003efs.1_In_Frame_Del_p.K955del	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	1238	Macro 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGATATCACGAAAGAAGAGGCAG	0.389													-	122432366	AAG	-	122432364	7	5	94	1	0	1	0	1	0	0	0	0	11458	14	1	0	3751	0	PARP14	3	122432364	In_Frame_Del	DEL	AAG	TCGA-BR-8487-01A-11D-2394-08	931727	122432364	75590066	743	59876											
DIRC2	84925	broad.mit.edu	37	chr3	122545749	122545749	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttctgcagatgaaagggcCacagccacagctattgcatc	9	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:122545749C>A	uc003efw.3	+	3	679	c.540C>A	c.(538-540)GCC>GCA	p.A180A	DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Silent_p.A18A	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	180					transport	integral to membrane					0				GBM - Glioblastoma multiforme(114;0.0614)		ATGAAAGGGCCACAGCCACAG	0.463													A	122545749	C	A	122545749	2	1	94	1	0	0	0	0	0	0	0	1	4534	581	21	5		5	DIRC2	3	122545749	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	113385	122545749	75476681	744	59877											
MYLK	4638	broad.mit.edu	37	chr3	123332966	123332966	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgtttcactcttcttcctCttccccttccccttcacctt	1	18	5	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:123332966C>A	uc003ego.2	-	34	6013	c.5731G>T	c.(5731-5733)GAG>TAG	p.E1911*	uc003egk.2_Intron|MYLK_uc003egl.2_Nonsense_Mutation_p.E151*|MYLK_uc003egm.2_Nonsense_Mutation_p.E150*|MYLK_uc010hrr.2_Nonsense_Mutation_p.E346*|MYLK_uc011bjv.1_Nonsense_Mutation_p.E711*|MYLK_uc011bjw.1_Nonsense_Mutation_p.E1910*|MYLK_uc003egp.2_Nonsense_Mutation_p.E1842*|MYLK_uc003egq.2_Nonsense_Mutation_p.E1860*|MYLK_uc003egr.2_Nonsense_Mutation_p.E1791*|MYLK_uc003egs.2_Nonsense_Mutation_p.E1735*	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1911	Poly-Glu.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCTTCTTCCTCTTCCCCTTCC	0.418													A	123332966	C	A	123332966	4	1	94	1	0	0	0	0	0	1	0	0	10056	922	32	5	17	5	MYLK	3	123332966	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	787217	123332966	74689464	745	59878											
MYLK	4638	broad.mit.edu	37	chr3	123385184	123385185	+	Frame_Shift_Ins	INS	-	-	G													agggaactggatgatctgagINSggggcattgctgagggagga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:123385183_123385184A>AG	uc003ego.3	-	21	3995_3996	c.3713_3714T>CT	c.(3712-3714)cctfs	p.P1238fs	MYLK_uc010hrr.3_5'Flank|MYLK_uc011bjv.2_Frame_Shift_Ins_p.P38fs|MYLK_uc011bjw.2_Frame_Shift_Ins_p.P1238fs|MYLK_uc003egp.3_Frame_Shift_Ins_p.P1169fs|MYLK_uc003egq.3_Frame_Shift_Ins_p.P1238fs|MYLK_uc003egr.3_Frame_Shift_Ins_p.P1169fs|MYLK_uc003egs.3_Frame_Shift_Ins_p.P1062fs	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1238	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGATGATCTGAGGGGGCATTGC	0.564													G	123385185	-	G	123385184	7	5	94	1	0	1	1	0	0	0	0	0	10056	1000	35	0	2083	0	MYLK	3	123385184	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	52218	123385184	74637246	746	59879											
MYLK	4638	broad.mit.edu	37	chr3	123401075	123401075	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcgagtactcactctcAgttcctagcacgggaggaag	13	11	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:123401075A>G	uc003ego.2	-	20	3930	c.3648T>C	c.(3646-3648)ACT>ACC	p.T1216T	MYLK_uc011bjv.1_Silent_p.T16T|MYLK_uc011bjw.1_Silent_p.T1216T|MYLK_uc003egp.2_Silent_p.T1147T|MYLK_uc003egq.2_Silent_p.T1216T|MYLK_uc003egr.2_Silent_p.T1147T|MYLK_uc003egs.2_Silent_p.T1040T|MYLK_uc003egt.2_Silent_p.T407T	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1216	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACTCACTCTCAGTTCCTAGCA	0.602													G	123401075	A	G	123401075	2	3	94	1	0	0	0	0	0	0	0	1	10056	175	7	3		3	MYLK	3	123401075	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	15891	123401075	74621355	747	59880											
ITGB5	3693	broad.mit.edu	37	chr3	124515331	124515331	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctctcgaagcaggagcActggttgcagctgcagtccc	12	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:124515331A>T	uc003eho.2	-	10	1894	c.1597T>A	c.(1597-1599)TGC>AGC	p.C533S	ITGB5_uc010hrx.2_RNA	NM_002213	NP_002204	P18084	ITB5_HUMAN	integrin, beta 5 precursor	533	Extracellular (Potential).|II.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			skin(2)	2				GBM - Glioblastoma multiforme(114;0.163)		AAGCAGGAGCACTGGTTGCAG	0.597													T	124515331	A	T	124515331	3	4	94	1	0	0	0	0	1	0	0	0	7898	159	6	5	826	5	ITGB5	3	124515331	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1114256	124515331	73507099	748	59881											
ZXDC	79364	broad.mit.edu	37	chr3	126160621	126160621	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctcacctgcaccagctggAcctggacgccctgcgccccg	10	20	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:126160621A>G	uc003eiv.2	-	8	2435	c.2381T>C	c.(2380-2382)GTC>GCC	p.V794A	ZXDC_uc010hsh.2_RNA	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C isoform 1	794	Interaction with CIITA.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.155)		CACCAGCTGGACCTGGACGCC	0.682													G	126160621	A	G	126160621	3	3	94	1	0	0	0	0	1	0	0	0	18249	275	10	3	207	3	ZXDC	3	126160621	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1645290	126160621	71861809	749	59882											
COPG	22820	broad.mit.edu	37	chr3	128979574	128979574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcaccaccctccttaagaCgggcagcgagagcagcatcg	10	15	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:128979574C>T	uc003els.2	+	12	1152	c.1052C>T	c.(1051-1053)ACG>ATG	p.T351M	COPG_uc010htb.2_Missense_Mutation_p.T257M	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	351	HEAT 3.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	p.T351M(1)		ovary(3)|breast(1)	4						CTCCTTAAGACGGGCAGCGAG	0.547													T	128979574	C	T	128979574	3	4	94	1	0	0	0	0	1	0	0	0	3731	536	19	1	1098	1	COPG	3	128979574	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2818953	128979574	69042856	750	59883											
RHO	6010	broad.mit.edu	37	chr3	129247930	129247930	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggagggcttctttgccacCctgggcggtatgagccgggt	16	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:129247930C>A	uc003emt.2	+	1	449	c.354C>A	c.(352-354)ACC>ACA	p.T118T		NM_000539	NP_000530	P08100	OPSD_HUMAN	rhodopsin	118	Retinal chromophore binding (By similarity).|Helical; Name=3; (Potential).				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding				0		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TCTTTGCCACCCTGGGCGGTA	0.632													A	129247930	C	A	129247930	2	1	94	1	0	0	0	0	0	0	0	1	13330	610	22	5		5	RHO	3	129247930	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	268356	129247930	68774500	751	59884											
TMCC1	23023	broad.mit.edu	37	chr3	129370588	129370588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaccacctgctgctgctgCtgctgcagctccatcttgga	10	15	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:129370588C>T	uc003emz.3	-	7	2199	c.1698G>A	c.(1696-1698)CAG>CAA	p.Q566Q	TMCC1_uc003emy.3_Silent_p.Q242Q|TMCC1_uc011blc.1_Silent_p.Q387Q|TMCC1_uc010htg.2_Silent_p.Q452Q	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	566	Potential.					integral to membrane				skin(1)	1						GCTGCTGCTGCTGCTGCAGCT	0.582													T	129370588	C	T	129370588	2	4	94	1	0	0	0	0	0	0	0	1	15989	796	28	2		2	TMCC1	3	129370588	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	122658	129370588	68651842	752	59885											
COL6A6	131873	broad.mit.edu	37	chr3	130284123	130284123	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgccatcaaaaagctcaGgaaggaagtttttagtgcac	10	8	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:130284123G>T	uc010htl.2	+	3	978	c.947G>T	c.(946-948)AGG>ATG	p.R316M		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	316	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						AAAAAGCTCAGGAAGGAAGTT	0.512													T	130284123	G	T	130284123	3	4	94	1	0	0	0	0	1	0	0	0	3703	1000	35	5	957	5	COL6A6	3	130284123	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	913535	130284123	67738307	753	59886											
COL6A6	131873	broad.mit.edu	37	chr3	130285766	130285766	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaagcaggatttgggaaaGgccattgagaatatcaggca	12	6	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:130285766G>A	uc010htl.2	+	4	1534	c.1503G>A	c.(1501-1503)AAG>AAA	p.K501K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	501	VWFA 3.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						ATTTGGGAAAGGCCATTGAGA	0.478													A	130285766	G	A	130285766	2	1	94	1	0	0	0	0	0	0	0	1	3703	991	35	4		4	COL6A6	3	130285766	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1643	130285766	67736664	754	59887											
COL6A6	131873	broad.mit.edu	37	chr3	130307993	130307993	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgcattggaggagatggCacaatgggagatcctggacc	15	7	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:130307993C>T	uc010htl.2	+	11	4216	c.4185C>T	c.(4183-4185)GGC>GGT	p.G1395G	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1395	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GAGGAGATGGCACAATGGGAG	0.433													T	130307993	C	T	130307993	2	4	94	1	0	0	0	0	0	0	0	1	3703	697	25	2		2	COL6A6	3	130307993	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	22227	130307993	67714437	755	59888											
COL6A6	131873	broad.mit.edu	37	chr3	130340717	130340717	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggccgtttgggaagccAaggaaataaagtaggtcaca	12	7	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:130340717A>G	uc010htl.2	+	23	4899	c.4868A>G	c.(4867-4869)CAA>CGA	p.Q1623R	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1623	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						TTGGGAAGCCAAGGAAATAAA	0.448													G	130340717	A	G	130340717	3	3	94	1	0	0	0	0	1	0	0	0	3703	130	5	3	4958	3	COL6A6	3	130340717	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	32724	130340717	67681713	756	59889											
ATP2C1	27032	broad.mit.edu	37	chr3	130649267	130649267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttacttcctaggttgcacGttttcaaaaaatacctaatg	5	8	1	0	rs141384562		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:130649267G>A	uc003enl.2	+	3	236	c.14G>A	c.(13-15)CGT>CAT	p.R5H	ATP2C1_uc011blg.1_Missense_Mutation_p.R39H|ATP2C1_uc011blh.1_Missense_Mutation_p.R39H|ATP2C1_uc011bli.1_Missense_Mutation_p.R39H|ATP2C1_uc003enk.2_5'UTR|ATP2C1_uc003enm.2_Missense_Mutation_p.R5H|ATP2C1_uc003enn.2_5'UTR|ATP2C1_uc003eno.2_Missense_Mutation_p.R5H|ATP2C1_uc003enp.2_Missense_Mutation_p.R5H|ATP2C1_uc003enq.2_Missense_Mutation_p.R5H|ATP2C1_uc003enr.2_Missense_Mutation_p.R5H|ATP2C1_uc003ens.2_Missense_Mutation_p.R5H|ATP2C1_uc003ent.2_Missense_Mutation_p.R5H	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	5	Cytoplasmic (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TAGGTTGCACGTTTTCAAAAA	0.318									Hailey-Hailey_disease				A	130649267	G	A	130649267	3	1	94	1	0	0	0	0	1	0	0	0	1143	1145	40	1	20	1	ATP2C1	3	130649267	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	308550	130649267	67373163	757	59890											
NEK11	79858	broad.mit.edu	37	chr3	131068501	131068501	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgaagcagagatccgcgagTgtttggaaaaagtggtgcct	15	7	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:131068501T>C	uc003eny.2	+	18	2145	c.1819T>C	c.(1819-1821)TGT>CGT	p.C607R	uc003eoc.1_Intron|NEK11_uc003eoa.2_Silent_p.S574S|NEK11_uc003enz.2_Missense_Mutation_p.C425R|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_Missense_Mutation_p.C423R|NEK11_uc011bll.1_Missense_Mutation_p.C502R	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11 isoform 1	607					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(4)|stomach(1)|central_nervous_system(1)	6						GATCCGCGAGTGTTTGGAAAA	0.478													C	131068501	T	C	131068501	3	2	94	1	0	0	0	0	1	0	0	0	10323	1696	59	3	1899	3	NEK11	3	131068501	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	419234	131068501	66953929	758	59891											
DNAJC13	23317	broad.mit.edu	37	chr3	132196986	132196986	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattggaatgttagagagggTaaggatatcatttaaggaaa	12	2	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:132196986T>C	uc003eor.2	+	24	2774	c.2709_splice	c.e24+2	p.R903_splice		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13								heat shock protein binding			ovary(1)|breast(1)	2						TTAGAGAGGGTAAGGATATCA	0.303													C	132196986	T	C	132196986	5	2	94	1	0	0	0	0	0	0	1	0	4632	1652	57	3	2801	3	DNAJC13	3	132196986	Splice_Site	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1128485	132196986	65825444	759	59892											
ACAD11	84129	broad.mit.edu	37	chr3	132360908	132360908	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagccaatgtttctaccgTggccacatatatggctgaac	9	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:132360908T>C	uc003eov.3	-	4	825	c.445A>G	c.(445-447)ACG>GCG	p.T149A	ACAD11_uc003eoy.2_Missense_Mutation_p.T149A	NM_032169	NP_115545	Q709F0	ACD11_HUMAN	putative acyl-CoA dehydrogenase	149						peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups			ovary(1)	1						GTTTCTACCGTGGCCACATAT	0.428													C	132360908	T	C	132360908	3	2	94	1	0	0	0	0	1	0	0	0	109	1696	59	3	1965	3	ACAD11	3	132360908	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	163922	132360908	65661522	760	59893											
TF	7018	broad.mit.edu	37	chr3	133494292	133494292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctaggaaaaaaccctgatcCatgggctaagaatctgaatg	9	9	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:133494292C>T	uc003epu.1	+	20	3431	c.1703C>T	c.(1702-1704)CCA>CTA	p.P568L	TF_uc011blt.1_Missense_Mutation_p.P441L|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.P568L	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	568	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AACCCTGATCCATGGGCTAAG	0.522													T	133494292	C	T	133494292	3	4	94	1	0	0	0	0	1	0	0	0	15782	594	21	4	1761	4	TF	3	133494292	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1133384	133494292	64528138	761	59894											
TF	7018	broad.mit.edu	37	chr3	133494370	133494370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaacctgtggaggagtatgCgaactgccacctggccagag	14	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:133494370C>T	uc003epu.1	+	20	3509	c.1781C>T	c.(1780-1782)GCG>GTG	p.A594V	TF_uc011blt.1_Missense_Mutation_p.A467V|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.A594V	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	594	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GAGGAGTATGCGAACTGCCAC	0.498													T	133494370	C	T	133494370	3	4	94	1	0	0	0	0	1	0	0	0	15782	768	27	1	1839	1	TF	3	133494370	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	78	133494370	64528060	762	59895											
ANAPC13	25847	broad.mit.edu	37	chr3	134201677	134201677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgacatcctcataaggcaGcttgtcttctcgccaagcat	8	13	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:134201677G>A	uc003eqi.2	-	2	167	c.70C>T	c.(70-72)CTG>TTG	p.L24L	CEP63_uc003eql.1_5'Flank|CEP63_uc003eqm.2_5'Flank|ANAPC13_uc003eqj.2_RNA|ANAPC13_uc003eqk.3_RNA	NM_015391	NP_056206	Q9BS18	APC13_HUMAN	anaphase promoting complex subunit 13	24					cell division|mitosis|protein K11-linked ubiquitination	anaphase-promoting complex				skin(1)	1						TCATAAGGCAGCTTGTCTTCT	0.443													A	134201677	G	A	134201677	2	1	94	1	0	0	0	0	0	0	0	1	601	962	34	2		2	ANAPC13	3	134201677	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	707307	134201677	63820753	763	59896											
CEP63	80254	broad.mit.edu	37	chr3	134256004	134256004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgcctcctcaggaattccGtcagaaatcgctggactggg	11	11	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:134256004G>A	uc003eqo.1	+	7	898	c.449G>A	c.(448-450)CGT>CAT	p.R150H	CEP63_uc003eql.1_Missense_Mutation_p.R150H|CEP63_uc003eqm.2_Missense_Mutation_p.R150H|CEP63_uc003eqn.1_Missense_Mutation_p.R150H	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	150	Potential.				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			ovary(1)	1						CAGGAATTCCGTCAGAAATCG	0.453													A	134256004	G	A	134256004	3	1	94	1	0	0	0	0	1	0	0	0	3257	1145	40	1	467	1	CEP63	3	134256004	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	54327	134256004	63766426	764	59897											
COPB2	9276	broad.mit.edu	37	chr3	139092574	139092574	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctcttagactggccacGcaccataccctctccattcc	5	19	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:139092574G>A	uc003etf.3	-	8	958	c.828C>T	c.(826-828)TGC>TGT	p.C276C	COPB2_uc011bmv.1_Silent_p.C247C|COPB2_uc010hui.2_Silent_p.C247C	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	276					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2						GACTGGCCACGCACCATACCC	0.433													A	139092574	G	A	139092574	2	1	94	1	0	0	0	0	0	0	0	1	3729	1079	38	1		1	COPB2	3	139092574	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4836570	139092574	58929856	765	59898											
ZBTB38	253461	broad.mit.edu	37	chr3	141163125	141163125	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccaacagtccagccatccCattggaaacatctgcatgtc	7	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:141163125C>A	uc003etw.2	+	8	2877	c.1895C>A	c.(1894-1896)CCA>CAA	p.P632Q	ZBTB38_uc010hun.2_Missense_Mutation_p.P629Q|ZBTB38_uc010huo.2_Missense_Mutation_p.P632Q|ZBTB38_uc003ety.2_Missense_Mutation_p.P632Q|ZBTB38_uc010hup.2_Missense_Mutation_p.P633Q	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	632					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CCAGCCATCCCATTGGAAACA	0.463													A	141163125	C	A	141163125	3	1	94	1	0	0	0	0	1	0	0	0	17536	594	21	5	1897	5	ZBTB38	3	141163125	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2070551	141163125	56859305	766	59899											
GRK7	131890	broad.mit.edu	37	chr3	141497563	141497563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggaagagcgagtggctgCagtgacgctggccaaggctg	18	8	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:141497563C>T	uc011bnd.1	+	1	521	c.437C>T	c.(436-438)GCA>GTA	p.A146V		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	146	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						CGAGTGGCTGCAGTGACGCTG	0.607													T	141497563	C	T	141497563	3	4	94	1	0	0	0	0	1	0	0	0	6794	710	25	2	439	2	GRK7	3	141497563	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	334438	141497563	56524867	767	59900											
ATR	545	broad.mit.edu	37	chr3	142268341	142268341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagataatgaagggcacGttctaattcatctttggaac	8	8	4	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:142268341G>A	uc003eux.3	-	15	3273	c.3151C>T	c.(3151-3153)CGT>TGT	p.R1051C		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1051					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						TGAAGGGCACGTTCTAATTCA	0.249								Other_conserved_DNA_damage_response_genes					A	142268341	G	A	142268341	3	1	94	1	0	0	0	0	1	0	0	0	1204	1145	40	1	4915	1	ATR	3	142268341	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	770778	142268341	55754089	768	59901											
C3orf58	205428	broad.mit.edu	37	chr3	143691373	143691373	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacgagctggtgccgccgcTtcctcaacgggcaggtggta	15	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:143691373T>C	uc003evo.2	+	1	734	c.199T>C	c.(199-201)TTC>CTC	p.F67L	C3orf58_uc011bnl.1_5'Flank	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	hypothetical protein LOC205428 isoform a	67						COPI vesicle coat|extracellular region				ovary(1)	1						GTGCCGCCGCTTCCTCAACGG	0.657													C	143691373	T	C	143691373	3	2	94	1	0	0	0	0	1	0	0	0	2236	1609	56	3	201	3	C3orf58	3	143691373	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1423032	143691373	54331057	769	59902											
PLSCR1	5359	broad.mit.edu	37	chr3	146251312	146251312	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaactggcaagtttgtttcCgggtgagaagcattcatctg	11	9	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:146251312C>T	uc003evx.3	-	3	427	c.39G>A	c.(37-39)CCG>CCA	p.P13P	PLSCR1_uc003evy.3_Silent_p.P6P|PLSCR1_uc011bnn.1_Missense_Mutation_p.R5Q|PLSCR1_uc003evz.3_RNA|PLSCR1_uc003ewa.2_Silent_p.P13P	NM_021105	NP_066928	O15162	PLS1_HUMAN	phospholipid scramblase 1	13	Cytoplasmic.				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			ovary(2)	2						AGTTTGTTTCCGGGTGAGAAG	0.343													T	146251312	C	T	146251312	2	4	94	1	0	0	0	0	0	0	0	1	12109	639	23	1		1	PLSCR1	3	146251312	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2559939	146251312	51771118	770	59903											
HPS3	84343	broad.mit.edu	37	chr3	148871324	148871324	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgtgctttaagaatacAgcttttcataggcttgaaag	9	6	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:148871324A>G	uc003ewu.1	+	7	1429	c.1289A>G	c.(1288-1290)CAG>CGG	p.Q430R	HPS3_uc003ewt.1_Missense_Mutation_p.Q430R|HPS3_uc011bnq.1_Missense_Mutation_p.Q265R	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	430						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTAAGAATACAGCTTTTCATA	0.393									Hermansky-Pudlak_syndrome				G	148871324	A	G	148871324	3	3	94	1	0	0	0	0	1	0	0	0	7340	188	7	3	1315	3	HPS3	3	148871324	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	2620012	148871324	49151106	771	59904											
TM4SF18	116441	broad.mit.edu	37	chr3	149051121	149051121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattatactccaaagtgcaaGcggaatcagcaaacaactta	7	9	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:149051121G>A	uc003exa.2	-	2	186	c.49C>T	c.(49-51)CTT>TTT	p.L17F		NM_138786	NP_620141	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	17	Helical; (Potential).					integral to membrane				ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CAAAGTGCAAGCGGAATCAGC	0.438													A	149051121	G	A	149051121	3	1	94	1	0	0	0	0	1	0	0	0	15964	971	34	2	576	2	TM4SF18	3	149051121	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	179797	149051121	48971309	772	59905											
PFN2	5217	broad.mit.edu	37	chr3	149686272	149686272	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgagcatttcttcgcgccAagagtcaaaccgttggtaaa	9	10	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:149686272A>G	uc003ext.1	-	2	296	c.198T>C	c.(196-198)CTT>CTC	p.L66L	PFN2_uc003exs.1_Silent_p.L17L|PFN2_uc003exu.1_Silent_p.L66L|PFN2_uc011bnu.1_Silent_p.L66L	NM_053024	NP_444252	P35080	PROF2_HUMAN	profilin 2 isoform a	66					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding				0			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCTTCGCGCCAAGAGTCAAAC	0.443													G	149686272	A	G	149686272	2	3	94	1	0	0	0	0	0	0	0	1	11768	117	5	3		3	PFN2	3	149686272	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	635151	149686272	48336158	773	59906											
EIF2A	83939	broad.mit.edu	37	chr3	150289746	150289746	+	Frame_Shift_Del	DEL	A	A	-													ctttatattctttttctagcAaaaaatggccccatttatga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:150289746delA	uc003eya.2	+	10	829	c.813delA	c.(811-813)CCAfs	p.P271fs	SERP1_uc003exz.2_Intron|EIF2A_uc003eyb.2_Frame_Shift_Del_p.P144fs|EIF2A_uc003eyc.2_Frame_Shift_Del_p.P144fs|EIF2A_uc011bnv.1_Frame_Shift_Del_p.P246fs|EIF2A_uc011bnw.1_Frame_Shift_Del_p.P210fs|EIF2A_uc003eyd.2_Frame_Shift_Del_p.P46fs|uc003eye.1_Intron	NM_032025	NP_114414	Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A	271					regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding				0		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTTTTCTAGCAAAAAATGGCC	0.313													-	150289746	A	-	150289746	7	5	94	1	0	1	0	1	0	0	0	0	4995	144	5	0	851	0	EIF2A	3	150289746	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	603474	150289746	47732684	774	59907											
FAM194A	131831	broad.mit.edu	37	chr3	150419909	150419909	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaaacattttcttaccTatctatactcatttcagaca	2	9	4	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:150419909T>C	uc003eyg.2	-	2	517	c.460A>G	c.(460-462)AGA>GGA	p.R154G	FAM194A_uc003eyh.2_Missense_Mutation_p.R8G	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	154										skin(2)|ovary(1)	3						TTTTCTTACCTATCTATACTC	0.294													C	150419909	T	C	150419909	3	2	94	1	0	0	0	0	1	0	0	0	5526	1536	53	3	1583	3	FAM194A	3	150419909	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	130163	150419909	47602521	775	59908											
MED12L	116931	broad.mit.edu	37	chr3	151100481	151100481	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagaacgataccaagatgAcataaaagcgcggcagatga	11	7	0	6			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:151100481A>G	uc003eyp.2	+	31	4561	c.4523A>G	c.(4522-4524)GAC>GGC	p.D1508G	MED12L_uc011bnz.1_Missense_Mutation_p.D1368G|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.D671G	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1508					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TACCAAGATGACATAAAAGCG	0.343													G	151100481	A	G	151100481	3	3	94	1	0	0	0	0	1	0	0	0	9429	275	10	3	4645	3	MED12L	3	151100481	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	680572	151100481	46921949	776	59909											
AADAC	13	broad.mit.edu	37	chr3	151531954	151531954	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgggacgttcaccatgGgaagaaaatcgctgtacctt	12	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:151531954G>T	uc003eze.2	+	1	94	c.4G>T	c.(4-6)GGA>TGA	p.G2*		NM_001086	NP_001077	P22760	AAAD_HUMAN	arylacetamide deacetylase	2	Cytoplasmic (Potential).				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			skin(2)	2		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GTTCACCATGGGAAGAAAATC	0.433													T	151531954	G	T	151531954	4	4	94	1	0	0	0	0	0	1	0	0	10	1233	43	5	6	5	AADAC	3	151531954	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	431473	151531954	46490476	777	59910											
DHX36	170506	broad.mit.edu	37	chr3	154033826	154033826	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaatatttcttgtcgtAcccatgatcctcaggagcaa	6	9	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:154033826A>G	uc003ezy.3	-	2	449	c.368_splice	c.e2+1	p.G123_splice	DHX36_uc010hvq.2_Splice_Site_p.G123_splice|DHX36_uc003ezz.3_Splice_Site_p.G123_splice	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36							cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTCTTGTCGTACCCATGATCC	0.318													G	154033826	A	G	154033826	5	3	94	1	0	0	0	0	0	0	1	0	4509	405	14	3	2752	3	DHX36	3	154033826	Splice_Site	SNP	A	TCGA-BR-8487-01A-11D-2394-08	2501872	154033826	43988604	778	59911											
PLCH1	23007	broad.mit.edu	37	chr3	155222384	155222384	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcatgagggatcgtccatgtGatttctttccactttccttt	7	10	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:155222384G>A	uc011bok.1	-	12	1905	c.1628C>T	c.(1627-1629)TCA>TTA	p.S543L	PLCH1_uc011boj.1_Missense_Mutation_p.S543L|PLCH1_uc011bol.1_Missense_Mutation_p.S525L	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	543					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCGTCCATGTGATTTCTTTCC	0.294													A	155222384	G	A	155222384	3	1	94	1	0	0	0	0	1	0	0	0	12037	1294	45	4	3516	4	PLCH1	3	155222384	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1188558	155222384	42800046	779	59912											
VEPH1	79674	broad.mit.edu	37	chr3	157081298	157081298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgtctctggagtttcttcCtgggagttttctttaacagt	10	7	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:157081298C>A	uc003fbj.1	-	9	1907	c.1590G>T	c.(1588-1590)CAG>CAT	p.Q530H	VEPH1_uc003fbk.1_Missense_Mutation_p.Q530H|VEPH1_uc010hvu.1_Missense_Mutation_p.Q530H	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	530						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GAGTTTCTTCCTGGGAGTTTT	0.388													A	157081298	C	A	157081298	3	1	94	1	0	0	0	0	1	0	0	0	17151	680	24	5	935	5	VEPH1	3	157081298	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1858914	157081298	40941132	780	59913											
SCHIP1	29970	broad.mit.edu	37	chr3	159482699	159482699	+	Frame_Shift_Del	DEL	C	C	-													cggccgagctgttcccggggCccccgccgggcgatccaaaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:159482699delC	uc003fcs.1	+	2	597	c.531delC	c.(529-531)GGCfs	p.G177fs	SCHIP1_uc003fcq.1_Frame_Shift_Del_p.G253fs|SCHIP1_uc003fcr.1_Frame_Shift_Del_p.G166fs|SCHIP1_uc003fct.1_Frame_Shift_Del_p.G177fs|SCHIP1_uc010hvz.1_Frame_Shift_Del_p.G150fs	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	schwannomin interacting protein 1	177						cytoplasm	identical protein binding|protein binding			ovary(1)|central_nervous_system(1)	2			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			GTTCCCGGGGCCCCCGCCGGG	0.766													-	159482699	C	-	159482699	7	5	94	1	0	1	0	1	0	0	0	0	13904	726	26	0	537	0	SCHIP1	3	159482699	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	2401401	159482699	38539731	781	59914											
SMC4	10051	broad.mit.edu	37	chr3	160141302	160141302	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaagtaaaagatgagaaAattcgccaagctttttattt	7	4	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:160141302A>G	uc003fdh.2	+	14	2222	c.2109A>G	c.(2107-2109)AAA>AAG	p.K703K	IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Silent_p.K467K|SMC4_uc003fdi.2_Silent_p.K678K|SMC4_uc003fdj.2_Silent_p.K703K|SMC4_uc010hwd.2_Silent_p.K703K|SMC4_uc003fdl.2_Silent_p.K406K	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	703	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAGATGAGAAAATTCGCCAAG	0.348													G	160141302	A	G	160141302	2	3	94	1	0	0	0	0	0	0	0	1	14785	11	1	3		3	SMC4	3	160141302	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	658603	160141302	37881128	782	59915											
ARL14	80117	broad.mit.edu	37	chr3	160395474	160395474	+	Frame_Shift_Del	DEL	A	A	-													ttttgaagaatgaacacattAaaaatgtgcctgttgttcta							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:160395473_160395473TA>T	uc003fdq.3	+	0	526	c.339_339TA>T	c.(337-339)attfs	p.I113fs		NM_025047	NP_079323	Q8N4G2	ARL14_HUMAN	Homo sapiens ADP-ribosylation factor-like 14 (ARL14), mRNA.	113					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			ATGAACACATTAAAAATGTGC	0.438													-	160395474	A	-	160395474	7	5	94	1	0	1	0	1	0	0	0	0	930	363	13	0	342	0	ARL14	3	160395474	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	254172	160395474	37626956	783	59916											
PPM1L	151742	broad.mit.edu	37	chr3	160679656	160679656	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagattttgtcaattgacCgagaaatgctagaaaaattg	9	5	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:160679656C>T	uc003fdr.2	+	2	633	c.532C>T	c.(532-534)CGA>TGA	p.R178*	PPM1L_uc003fds.2_5'UTR|PPM1L_uc003fdt.2_Nonsense_Mutation_p.R51*|PPM1L_uc010hwf.2_RNA	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	protein phosphatase 1 (formerly 2C)-like	178	Cytoplasmic (Potential).|PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)	1			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GTCAATTGACCGAGAAATGCT	0.333													T	160679656	C	T	160679656	4	4	94	1	0	0	0	0	0	1	0	0	12344	644	23	1	538	1	PPM1L	3	160679656	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	284182	160679656	37342774	784	59917											
PPM1L	151742	broad.mit.edu	37	chr3	160783285	160783285	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtgacaaagatgggaaCgctattcctttgtctcatga	10	8	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:160783285C>T	uc003fdr.2	+	3	770	c.669C>T	c.(667-669)AAC>AAT	p.N223N	PPM1L_uc003fds.2_Silent_p.N44N|PPM1L_uc003fdt.2_Silent_p.N96N|PPM1L_uc010hwf.2_RNA	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	protein phosphatase 1 (formerly 2C)-like	223	Cytoplasmic (Potential).|PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)	1			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AAGATGGGAACGCTATTCCTT	0.483													T	160783285	C	T	160783285	2	4	94	1	0	0	0	0	0	0	0	1	12344	535	19	1		1	PPM1L	3	160783285	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	103629	160783285	37239145	785	59918											
SI	6476	broad.mit.edu	37	chr3	164714430	164714430	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttgaaaaaaccacagatgtCtgctccagtctaaaatatat	6	8	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:164714430C>T	uc003fei.2	-	40	4647	c.4585G>A	c.(4585-4587)GAC>AAC	p.D1529N		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1529	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCACAGATGTCTGCTCCAGTC	0.299										HNSCC(35;0.089)			T	164714430	C	T	164714430	3	4	94	1	0	0	0	0	1	0	0	0	14297	913	32	4	934	4	SI	3	164714430	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3931145	164714430	33308000	786	59919											
ZBBX	79740	broad.mit.edu	37	chr3	166958587	166958587	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaacaaataatctttaagtActctttgaccacggtagtgt	7	7	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:166958587A>G	uc003fep.2	-	21	2720	c.2397T>C	c.(2395-2397)AGT>AGC	p.S799S	ZBBX_uc011bpc.1_Silent_p.S838S|ZBBX_uc003feq.2_Silent_p.S770S	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	799						intracellular	zinc ion binding			ovary(2)	2						ATCTTTAAGTACTCTTTGACC	0.388													G	166958587	A	G	166958587	2	3	94	1	0	0	0	0	0	0	0	1	17513	388	14	3		3	ZBBX	3	166958587	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	2244157	166958587	31063843	787	59920											
GOLIM4	27333	broad.mit.edu	37	chr3	167750483	167750483	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtgctcctcttccaccTgatgctcctcaggttctctg	7	15	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:167750483T>C	uc003ffe.2	-	9	1345	c.1001A>G	c.(1000-1002)CAG>CGG	p.Q334R	GOLIM4_uc011bpe.1_Missense_Mutation_p.Q334R|GOLIM4_uc011bpf.1_Missense_Mutation_p.Q306R|GOLIM4_uc011bpg.1_Missense_Mutation_p.Q306R	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	334	Glu-rich.|Lumenal (Potential).				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)|skin(1)	5						CTCTTCCACCTGATGCTCCTC	0.537													C	167750483	T	C	167750483	3	2	94	1	0	0	0	0	1	0	0	0	6566	1580	55	3	1121	3	GOLIM4	3	167750483	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	791896	167750483	30271947	788	59921											
PHC3	80012	broad.mit.edu	37	chr3	169847182	169847182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtatacagtgctgggatgGgggtgggtcttgagttgaat	18	3	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:169847182G>T	uc010hws.1	-	8	1106	c.1042C>A	c.(1042-1044)CCA>ACA	p.P348T	PHC3_uc003fgl.2_Missense_Mutation_p.P360T|PHC3_uc011bpq.1_Missense_Mutation_p.P307T|PHC3_uc011bpr.1_Missense_Mutation_p.P274T	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	polyhomeotic like 3	348	Pro-rich.|Gln-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TGCTGGGATGGGGGTGGGTCT	0.493													T	169847182	G	T	169847182	3	4	94	1	0	0	0	0	1	0	0	0	11818	1232	43	5	1941	5	PHC3	3	169847182	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2096699	169847182	28175248	789	59922											
RPL22L1	200916	broad.mit.edu	37	chr3	170586135	170586135	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctactggatgagtaaggtcCaaattaaacctccaggttga	9	8	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:170586135C>T	uc003fhc.3	-	2	143	c.54G>A	c.(52-54)TTG>TTA	p.L18L	RPL22L1_uc003fhb.3_RNA	NM_001099645	NP_001093115	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	18					translation	ribosome	structural constituent of ribosome				0	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GAGTAAGGTCCAAATTAAACC	0.313													T	170586135	C	T	170586135	2	4	94	1	0	0	0	0	0	0	0	1	13569	593	21	4		4	RPL22L1	3	170586135	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	738953	170586135	27436295	790	59923											
SLC2A2	6514	broad.mit.edu	37	chr3	170723843	170723843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcacaccagacaggccaaGcaggatgtgccacagatcat	10	13	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:170723843G>A	uc003fhe.1	-	6	973	c.664C>T	c.(664-666)CTT>TTT	p.L222F	SLC2A2_uc003fhf.1_Missense_Mutation_p.L49F|SLC2A2_uc011bpu.1_Missense_Mutation_p.L95F	NM_000340	NP_000331	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose	222	Helical; Name=6; (Potential).				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GACAGGCCAAGCAGGATGTGC	0.413													A	170723843	G	A	170723843	3	1	94	1	0	0	0	0	1	0	0	0	14544	971	34	2	934	2	SLC2A2	3	170723843	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	137708	170723843	27298587	791	59924											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952085	A	G	178952085	3	3	94	1	0	0	0	0	1	0	0	0	11913	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	8228242	178952085	19070345	792	59925											
PEX5L	51555	broad.mit.edu	37	chr3	179537679	179537679	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgagatggttacttggttcTgggcttcttggttctcagat	12	8	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:179537679T>G	uc003fki.1	-	9	1038	c.908A>C	c.(907-909)CAG>CCG	p.Q303P	PEX5L_uc011bqd.1_Missense_Mutation_p.Q260P|PEX5L_uc011bqe.1_Missense_Mutation_p.Q111P|PEX5L_uc011bqf.1_Missense_Mutation_p.Q195P|PEX5L_uc003fkj.1_Missense_Mutation_p.Q268P|PEX5L_uc010hxd.1_Missense_Mutation_p.Q301P|PEX5L_uc011bqg.1_Missense_Mutation_p.Q279P|PEX5L_uc011bqh.1_Missense_Mutation_p.Q244P	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	303					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TACTTGGTTCTGGGCTTCTTG	0.418													G	179537679	T	G	179537679	3	3	94	1	0	0	0	0	1	0	0	0	11749	1580	55	5	1000	5	PEX5L	3	179537679	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	585594	179537679	18484751	793	59926											
B3GNT5	84002	broad.mit.edu	37	chr3	182987617	182987617	+	Frame_Shift_Del	DEL	A	A	-													tggttagtggcagaagagtcAaaaaatggcagttaattatt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:182987616_182987616CA>C	uc003flm.3	+	1	553	c.30_30CA>C	c.(28-30)gtcfs	p.V10fs	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003flk.3_Frame_Shift_Del_p.V10fs|B3GNT5_uc003fll.3_Frame_Shift_Del_p.V10fs|B3GNT5_uc021xic.1_Frame_Shift_Del_p.V10fs	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA.	10					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GCAGAAGAGTCAAAAAATGGC	0.373													-	182987617	A	-	182987617	7	5	94	1	0	1	0	1	0	0	0	0	1260	131	5	0	33	0	B3GNT5	3	182987617	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	3449938	182987617	15034813	794	59927											
HTR3E	285242	broad.mit.edu	37	chr3	183822631	183822631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatgtaagtaatgaaggtcGcatcaggtataagaaaccca	9	6	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:183822631G>A	uc010hxq.2	+	5	912	c.446G>A	c.(445-447)CGC>CAC	p.R149H	HTR3E_uc003fml.3_Missense_Mutation_p.R134H|HTR3E_uc003fmm.2_Missense_Mutation_p.R164H|HTR3E_uc010hxr.2_Missense_Mutation_p.R175H|HTR3E_uc003fmn.2_Missense_Mutation_p.R149H	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	149	Extracellular (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AATGAAGGTCGCATCAGGTAT	0.488													A	183822631	G	A	183822631	3	1	94	1	0	0	0	0	1	0	0	0	7448	1087	38	1	505	1	HTR3E	3	183822631	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	835014	183822631	14199799	795	59928											
DVL3	1857	broad.mit.edu	37	chr3	183882166	183882166	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcatcggggactcccgacccCcatccttccagtgagtgtga	11	15	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:183882166C>A	uc003fms.2	+	3	483	c.343C>A	c.(343-345)CCA>ACA	p.P115T	DVL3_uc011bqw.1_Missense_Mutation_p.P115T|DVL3_uc003fmt.2_5'UTR|DVL3_uc003fmu.2_5'Flank	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	115					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CTCCCGACCCCCATCCTTCCA	0.672													A	183882166	C	A	183882166	3	1	94	1	0	0	0	0	1	0	0	0	4837	623	22	5	353	5	DVL3	3	183882166	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	59535	183882166	14140264	796	59929											
AP2M1	1173	broad.mit.edu	37	chr3	183901269	183901269	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taactagctctccttgcccaGgtgccattcgcgccctctgg	9	16	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:183901269G>T	uc011bqx.1	+	12	1331	c.1174_splice	c.e12-1	p.V392_splice	AP2M1_uc003fmw.2_Splice_Site_p.V390_splice|AP2M1_uc003fmx.2_Splice_Site_p.V320_splice|AP2M1_uc003fmy.2_Splice_Site_p.V390_splice|AP2M1_uc011bqy.1_Splice_Site_p.V262_splice|ABCF3_uc003fmz.2_5'Flank|ABCF3_uc003fna.2_5'Flank	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit						axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity				0	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCTTGCCCAGGTGCCATTCG	0.547													T	183901269	G	T	183901269	5	4	94	1	0	0	0	0	0	0	1	0	742	1014	35	5	1212	5	AP2M1	3	183901269	Splice_Site	SNP	G	TCGA-BR-8487-01A-11D-2394-08	19103	183901269	14121161	797	59930											
ECE2	9718	broad.mit.edu	37	chr3	184009865	184009865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggtgtggtgctcggtcCgcacaccagagagctctcac	13	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:184009865C>T	uc003fni.3	+	19	2529	c.2491C>T	c.(2491-2493)CGC>TGC	p.R831C	ECE2_uc003fnl.3_Missense_Mutation_p.R759C|ECE2_uc003fnm.3_Missense_Mutation_p.R713C|ECE2_uc003fnk.3_Missense_Mutation_p.R684C	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	831	Lumenal (Potential).|Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGCTCGGTCCGCACACCAGA	0.657													T	184009865	C	T	184009865	3	4	94	1	0	0	0	0	1	0	0	0	4890	652	23	1	3129	1	ECE2	3	184009865	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	108596	184009865	14012565	798	59931											
CHRD	8646	broad.mit.edu	37	chr3	184100472	184100472	+	Frame_Shift_Del	DEL	G	G	-													gccccccacagcagggcgtaGggggcatcaccctgctcact							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:184100471_184100471AG>A	uc003fov.3	+	7	1137	c.891_891AG>A	c.(889-891)gtafs	p.V297fs	CHRD_uc003fow.3_5'UTR|CHRD_uc003fox.3_Frame_Shift_Del_p.V297fs|CHRD_uc003foy.3_5'UTR|CHRD_uc010hyc.3_5'UTR|CHRD_uc011brr.2_5'UTR	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	297	CHRD 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCAGGGCGTAGGGGGCATCA	0.602													-	184100472	G	-	184100472	7	5	94	1	0	1	0	1	0	0	0	0	3372	1000	35	0	922	0	CHRD	3	184100472	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	90607	184100472	13921958	799	59932											
TMEM41A	90407	broad.mit.edu	37	chr3	185212518	185212519	+	Frame_Shift_Ins	INS	-	-	A													aagtctcaaaaacaataagaINSaaaaaaacaagctgtttctg					rs150885877	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:185212517_185212518G>GA	uc003fpj.2	-	3	563_564	c.467_468C>TC	c.(466-468)ttcfs	p.F156fs	TMEM41A_uc003fpl.2_3'UTR	NM_080652	NP_542383	Q96HV5	TM41A_HUMAN	Homo sapiens transmembrane protein 41A (TMEM41A), mRNA.	156						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446													A	185212519	-	A	185212518	7	5	94	1	0	1	1	0	0	0	0	0	16161	246	9	0	335	0	TMEM41A	3	185212518	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1112046	185212518	12809912	800	59933											
DGKG	1608	broad.mit.edu	37	chr3	185975717	185975717	+	Frame_Shift_Del	DEL	A	A	-													ggaagtctggagtatcacggAaaaagttcaacctgggaaga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:185975717delA	uc003fqa.2	-	17	1973	c.1436delT	c.(1435-1437)TTCfs	p.F479fs	DGKG_uc003fqb.2_Frame_Shift_Del_p.F440fs|DGKG_uc003fqc.2_Frame_Shift_Del_p.F454fs|DGKG_uc011brx.1_Frame_Shift_Del_p.F420fs	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	479	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			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AGTATCACGGAAAAAGTTCAA	0.493													-	185975717	A	-	185975717	7	5	94	1	0	1	0	1	0	0	0	0	4469	246	9	0	975	0	DGKG	3	185975717	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	763199	185975717	12046713	801	59934											
TPRG1	285386	broad.mit.edu	37	chr3	188925188	188925188	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaagaaatgtcaacaattggGagttttgaaggattccaggc	12	5	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:188925188G>T	uc003frv.1	+	7	1242	c.15G>T	c.(13-15)GGG>GGT	p.G5G	TPRG1_uc003frw.1_Silent_p.G5G	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	5											0	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CAACAATTGGGAGTTTTGAAG	0.453													T	188925188	G	T	188925188	2	4	94	1	0	0	0	0	0	0	0	1	16415	1161	41	5		5	TPRG1	3	188925188	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2949471	188925188	9097242	802	59935											
CLDN1	9076	broad.mit.edu	37	chr3	190039836	190039836	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccggtgctctgcgacacgcAggacatccacagcccctcgt	10	18	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:190039836A>G	uc003fsh.2	-	1	380	c.160T>C	c.(160-162)TGC>CGC	p.C54R		NM_021101	NP_066924	O95832	CLD1_HUMAN	claudin 1	54	Extracellular (Potential).				calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(1)	1	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		TGCGACACGCAGGACATCCAC	0.617													G	190039836	A	G	190039836	3	3	94	1	0	0	0	0	1	0	0	0	3471	188	7	3	491	3	CLDN1	3	190039836	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1114648	190039836	7982594	803	59936											
CLDN16	10686	broad.mit.edu	37	chr3	190120187	190120187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgcttttgatgggattcGcacctgtgatgagtacgatt	11	6	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:190120187G>A	uc003fsi.2	+	2	454	c.386G>A	c.(385-387)CGC>CAC	p.R129H	CLDN16_uc010hze.2_Intron	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	claudin 16	129	Extracellular (Potential).				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GATGGGATTCGCACCTGTGAT	0.488													A	190120187	G	A	190120187	3	1	94	1	0	0	0	0	1	0	0	0	3477	1087	38	1	392	1	CLDN16	3	190120187	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	80351	190120187	7902243	804	59937											
LSG1	55341	broad.mit.edu	37	chr3	194362829	194362829	+	Frame_Shift_Del	DEL	T	T	-													gtgcttgtagagtctacgacTtttttcttttttatttctgt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:194362829delT	uc003fui.2	-	14	2260	c.1945delA	c.(1945-1947)AGTfs	p.S649fs		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	649					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		AGTCTACGACTTTTTTCTTTT	0.498													-	194362829	T	-	194362829	7	5	94	1	0	1	0	1	0	0	0	0	9049	1609	56	0	35	0	LSG1	3	194362829	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	4242642	194362829	3659601	805	59938											
C3orf21	152002	broad.mit.edu	37	chr3	194790780	194790780	+	Frame_Shift_Del	DEL	G	G	-													ttgaagcccggcagcccctcGgggggcgggcccccaacccg					rs116550317	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:194790780delG	uc003fum.3	-	4	954	c.846delC	c.(844-846)CCCfs	p.P282fs	C3orf21_uc003ful.2_Frame_Shift_Del_p.P79fs|C3orf21_uc003fuk.2_Frame_Shift_Del_p.P76fs	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	hypothetical protein LOC152002	282						integral to membrane	transferase activity, transferring glycosyl groups				0	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)		GCAGCCCCTCGGGGGGCGGGC	0.682													-	194790780	G	-	194790780	7	5	94	1	0	1	0	1	0	0	0	0	2214	1103	39	0	339	0	C3orf21	3	194790780	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	427951	194790780	3231650	806	59939											
MUC4	4585	broad.mit.edu	37	chr3	195484043	195484043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggagttgcccaccctgCtggtctgattgtacaaacac	12	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:195484043C>T	uc011bto.1	-	19	15219	c.14759G>A	c.(14758-14760)AGC>AAC	p.S4920N	MUC4_uc003fuz.2_Missense_Mutation_p.S646N|MUC4_uc003fva.2_Missense_Mutation_p.S528N|MUC4_uc003fvb.2_Missense_Mutation_p.S564N|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.S564N|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.S528N|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.S612N|MUC4_uc011bti.1_Missense_Mutation_p.S612N|MUC4_uc011btj.1_Missense_Mutation_p.S789N|MUC4_uc011btk.1_Missense_Mutation_p.S528N|MUC4_uc011btl.1_Missense_Mutation_p.S557N|MUC4_uc011btm.1_Missense_Mutation_p.S737N|MUC4_uc011btn.1_Missense_Mutation_p.S528N|MUC4_uc003fvo.2_Missense_Mutation_p.S812N|MUC4_uc003fvp.2_Missense_Mutation_p.S761N	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1805					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCCCACCCTGCTGGTCTGATT	0.557													T	195484043	C	T	195484043	3	4	94	1	0	0	0	0	1	0	0	0	9978	797	28	2	1127	2	MUC4	3	195484043	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	693263	195484043	2538387	807	59940											
MUC4	4585	broad.mit.edu	37	chr3	195515973	195515973	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgatgaaaaccttgtcgtCtctcctgaggtggatattcc	9	9	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:195515973C>A	uc011bto.1	-	2	2938	c.2478G>T	c.(2476-2478)GAG>GAT	p.E826D	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.E708D	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	831	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTTGTCGTCTCTCCTGAGG	0.567													A	195515973	C	A	195515973	3	1	94	1	0	0	0	0	1	0	0	0	9978	912	32	5		5	MUC4	3	195515973	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	31930	195515973	2506457	808	59941											
WDR53	348793	broad.mit.edu	37	chr3	196288312	196288312	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcattcaggcagaggacaGgagaagaatgcccacccgtc	12	11	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:196288312G>T	uc003fwt.2	-	3	506	c.35C>A	c.(34-36)CCT>CAT	p.P12H		NM_182627	NP_872433	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	12	WD 1.									breast(1)|skin(1)	2	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GCAGAGGACAGGAGAAGAATG	0.517													T	196288312	G	T	196288312	3	4	94	1	0	0	0	0	1	0	0	0	17302	1000	35	5	1049	5	WDR53	3	196288312	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	772339	196288312	1734118	809	59942											
NCBP2	22916	broad.mit.edu	37	chr3	196664431	196664431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccctccttaaagcctgCgtcccagtctgtgcgaatga	9	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:196664431C>T	uc003fxd.1	-	3	439	c.349G>A	c.(349-351)GCA>ACA	p.A117T	NCBP2_uc003fxb.1_Missense_Mutation_p.A47T|NCBP2_uc011btz.1_Missense_Mutation_p.A99T|NCBP2_uc003fxc.1_RNA|NCBP2_uc003fxe.1_Missense_Mutation_p.A64T|NCBP2_uc003fxf.2_3'UTR	NM_007362	NP_031388	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	117	RRM.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding				0	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		TTAAAGCCTGCGTCCCAGTCT	0.547													T	196664431	C	T	196664431	3	4	94	1	0	0	0	0	1	0	0	0	10212	768	27	1	129	1	NCBP2	3	196664431	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	376119	196664431	1357999	810	59943											
PIGG	54872	broad.mit.edu	37	chr4	502669	502669	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgtggtgaccatggcAtgtctgaaacaggaagtcac	11	8	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:502669A>G	uc003gak.3	+	5	947	c.811A>G	c.(811-813)ATG>GTG	p.M271V	PIGG_uc003gaj.3_Missense_Mutation_p.M271V|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.M138V|PIGG_uc003gal.3_Missense_Mutation_p.M182V|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Missense_Mutation_p.M149V|PIGG_uc003gam.2_Missense_Mutation_p.M182V|PIGG_uc003gan.2_Missense_Mutation_p.M182V	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	271	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						TGACCATGGCATGTCTGAAAC	0.468													G	502669	A	G	502669	3	3	94	1	0	0	0	0	1	0	0	0	11888	217	8	3	829	3	PIGG	4	502669	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08		502669	190651607	811	59944											
PDE6B	5158	broad.mit.edu	37	chr4	647749	647749	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctcaactgcgagcggtacTccgtgggcctcctggacatg	12	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:647749T>C	uc003gap.2	+	4	873	c.820T>C	c.(820-822)TCC>CCC	p.S274P	PDE6B_uc003gao.3_Missense_Mutation_p.S274P|PDE6B_uc011buy.1_5'UTR|PDE6B_uc010ibg.2_5'UTR|uc003gaq.1_RNA	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	274	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						CGAGCGGTACTCCGTGGGCCT	0.652													C	647749	T	C	647749	3	2	94	1	0	0	0	0	1	0	0	0	11646	1551	54	3	834	3	PDE6B	4	647749	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	145080	647749	190506527	812	59945											
DGKQ	1609	broad.mit.edu	37	chr4	954956	954956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggaaccctgggcaatccGgattccggagcgcagcccac	13	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:954956G>A	uc003gbw.2	-	22	2682	c.2608C>T	c.(2608-2610)CGG>TGG	p.R870W	DGKQ_uc010ibn.2_Missense_Mutation_p.R857W	NM_001347	NP_001338	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta	870					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGGGCAATCCGGATTCCGGAG	0.716													A	954956	G	A	954956	3	1	94	1	0	0	0	0	1	0	0	0	4473	1115	39	1	228	1	DGKQ	4	954956	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	307207	954956	190199320	813	59946											
WHSC1	7468	broad.mit.edu	37	chr4	1941496	1941496	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccttctgcatccttaacTgagaatgaggtaaaataata	6	8	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:1941496T>C	uc003gdz.3	+	9	2048	c.1872T>C	c.(1870-1872)ACT>ACC	p.T624T	WHSC1_uc003geb.3_Silent_p.T624T|WHSC1_uc003gec.3_Silent_p.T624T|WHSC1_uc003ged.3_Silent_p.T624T|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_5'UTR|WHSC1_uc003gdy.1_Silent_p.T624T|WHSC1_uc010icd.1_Silent_p.T624T|WHSC1_uc003gea.1_Silent_p.T624T|WHSC1_uc010ice.1_Silent_p.T624T|WHSC1_uc003geh.1_Silent_p.T624T	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	624					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CATCCTTAACTGAGAATGAGG	0.433			T	IGH@	MM								C	1941496	T	C	1941496	2	2	94	1	0	0	0	0	0	0	0	1	17359	1567	55	3		3	WHSC1	4	1941496	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	986540	1941496	189212780	814	59947											
WHSC1	7468	broad.mit.edu	37	chr4	1953854	1953854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgtgagaagccgggcaGcctcctgctctgtgaaggac	15	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:1953854G>A	uc003gdz.3	+	11	2209	c.2033G>A	c.(2032-2034)AGC>AAC	p.S678N	WHSC1_uc003geb.3_Missense_Mutation_p.S678N|WHSC1_uc003gec.3_Missense_Mutation_p.S678N|WHSC1_uc003ged.3_Missense_Mutation_p.S678N|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_5'UTR|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_5'UTR	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	678	PHD-type 1.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AAGCCGGGCAGCCTCCTGCTC	0.652			T	IGH@	MM								A	1953854	G	A	1953854	3	1	94	1	0	0	0	0	1	0	0	0	17359	971	34	2	2147	2	WHSC1	4	1953854	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	12358	1953854	189200422	815	59948											
WHSC2	7469	broad.mit.edu	37	chr4	1985736	1985736	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggtgtggcagggctcaGgccgctgttgtacatgggcg	19	9	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:1985736G>T	uc003gem.2	-	9	1414	c.1174C>A	c.(1174-1176)CTG>ATG	p.L392M	WHSC2_uc003gek.2_Missense_Mutation_p.L118M|WHSC2_uc003gel.2_Missense_Mutation_p.L306M|WHSC2_uc003gen.2_Missense_Mutation_p.L246M	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Wolf-Hirschhorn syndrome candidate 2 protein	381					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			GCAGGGCTCAGGCCGCTGTTG	0.701													T	1985736	G	T	1985736	3	4	94	1	0	0	0	0	1	0	0	0	17361	991	35	5	457	5	WHSC2	4	1985736	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	31882	1985736	189168540	816	59949											
TNIP2	79155	broad.mit.edu	37	chr4	2744179	2744179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccataagctctaatgcGtcggcggccaaatacttggc	11	12	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:2744179G>A	uc003gfg.2	-	6	1182	c.1095C>T	c.(1093-1095)GAC>GAT	p.D365D	TNIP2_uc003gff.2_Silent_p.D258D|TNIP2_uc003gfh.2_Silent_p.D282D	NM_024309	NP_077285	Q8NFZ5	TNIP2_HUMAN	A20-binding inhibitor of NF-kappaB activation 2	365						cytosol	protein binding			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCTCTAATGCGTCGGCGGCCA	0.627													A	2744179	G	A	2744179	2	1	94	1	0	0	0	0	0	0	0	1	16312	1136	40	1		1	TNIP2	4	2744179	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	758443	2744179	188410097	817	59950											
GRK4	2868	broad.mit.edu	37	chr4	2986251	2986252	+	Frame_Shift_Ins	INS	-	-	A													aaattcaggaggatatggcaINSaaaaaagtggtcgtagtaaa					rs141511339		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:2986250_2986251C>CA	uc003ggn.1	+	1	518_519	c.63_64C>CA	c.(61-66)ggcaaafs	p.G21fs	GRK4_uc003ggo.1_Frame_Shift_Ins_p.G21fs|GRK4_uc003ggp.1_Intron|GRK4_uc003ggq.1_Intron	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	21	N-terminal.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGGATATGGCAAAAAAAGTGG	0.381													A	2986252	-	A	2986251	7	5	94	1	0	1	1	0	0	0	0	0	6791	131	5	0	70	0	GRK4	4	2986251	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	242072	2986251	188168025	818	59951											
RGS12	6002	broad.mit.edu	37	chr4	3318583	3318583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagtattttaaacgtggCgatgatcgtgggctacttag	12	6	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:3318583C>T	uc003ggw.2	+	2	1590	c.686C>T	c.(685-687)GCG>GTG	p.A229V	RGS12_uc003ggu.2_Missense_Mutation_p.A229V|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.A229V|RGS12_uc003ggx.1_Missense_Mutation_p.A229V	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	229	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTAAACGTGGCGATGATCGTG	0.483													T	3318583	C	T	3318583	3	4	94	1	0	0	0	0	1	0	0	0	13295	768	27	1	688	1	RGS12	4	3318583	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	332332	3318583	187835693	819	59952											
HGFAC	3083	broad.mit.edu	37	chr4	3445813	3445813	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctcaatggaggctccTgctccaatacccaggacccc	8	18	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:3445813T>C	uc003ghc.2	+	5	526	c.523T>C	c.(523-525)TGC>CGC	p.C175R	HGFAC_uc010icw.2_Missense_Mutation_p.C175R	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	175	EGF-like 1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGGAGGCTCCTGCTCCAATAC	0.697													C	3445813	T	C	3445813	3	2	94	1	0	0	0	0	1	0	0	0	7086	1580	55	3	541	3	HGFAC	4	3445813	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	127230	3445813	187708463	820	59953											
HGFAC	3083	broad.mit.edu	37	chr4	3449321	3449321	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaagtacatcccgtacacCctgtactcggtgttcaaccc	8	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:3449321C>A	uc003ghc.2	+	11	1461	c.1458C>A	c.(1456-1458)ACC>ACA	p.T486T	HGFAC_uc010icw.2_Silent_p.T493T	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	486	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCCGTACACCCTGTACTCGG	0.662													A	3449321	C	A	3449321	2	1	94	1	0	0	0	0	0	0	0	1	7086	610	22	5		5	HGFAC	4	3449321	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3508	3449321	187704955	821	59954											
DOK7	285489	broad.mit.edu	37	chr4	3494869	3494869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcccccgagcccagcctgTgcacctgcctgcccgggaca	13	19	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:3494869T>C	uc003ghd.2	+	7	1226	c.1156T>C	c.(1156-1158)TGC>CGC	p.C386R	DOK7_uc003ghe.2_Missense_Mutation_p.C248R|DOK7_uc003ghf.2_Silent_p.C127C|DOK7_uc003ghg.1_Missense_Mutation_p.C76R	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	downstream of tyrosine kinase 7 isoform 1	386					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCCAGCCTGTGCACCTGCCT	0.687													C	3494869	T	C	3494869	3	2	94	1	0	0	0	0	1	0	0	0	4702	1696	59	3	1182	3	DOK7	4	3494869	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	45548	3494869	187659407	822	59955											
DOK7	285489	broad.mit.edu	37	chr4	3494992	3494992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccctcacagggcagccccGgcaacagtgcggccagggac	13	18	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:3494992G>A	uc003ghd.2	+	7	1349	c.1279G>A	c.(1279-1281)GGC>AGC	p.G427S	DOK7_uc003ghe.2_Missense_Mutation_p.G289S|DOK7_uc003ghf.2_Silent_p.P168P|DOK7_uc003ghg.1_Missense_Mutation_p.G117S	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	downstream of tyrosine kinase 7 isoform 1	427					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGGCAGCCCCGGCAACAGTGC	0.711													A	3494992	G	A	3494992	3	1	94	1	0	0	0	0	1	0	0	0	4702	1116	39	1	1305	1	DOK7	4	3494992	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	123	3494992	187659284	823	59956											
MSX1	4487	broad.mit.edu	37	chr4	4864432	4864432	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctttcggccctcagggcgGctgagccccccagcctgcac	11	18	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:4864432G>A	uc003gif.2	+	2	709	c.474G>A	c.(472-474)CGG>CGA	p.R158R		NM_002448	NP_002439	P28360	MSX1_HUMAN	msh homeobox 1	152					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTCAGGGCGGCTGAGCCCCC	0.527													A	4864432	G	A	4864432	2	1	94	1	0	0	0	0	0	0	0	1	9895	1190	42	2		2	MSX1	4	4864432	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1369440	4864432	186289844	824	59957											
EVC	2121	broad.mit.edu	37	chr4	5721031	5721031	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaatgcgcagaccccctcGgaaactggctccccatcaag	8	16	2	1	rs140615894	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:5721031G>A	uc003gil.1	+	2	415	c.231G>A	c.(229-231)TCG>TCA	p.S77S	EVC_uc003gim.1_RNA	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	77					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				AGACCCCCTCGGAAACTGGCT	0.483													A	5721031	G	A	5721031	2	1	94	1	0	0	0	0	0	0	0	1	5285	1103	39	1		1	EVC	4	5721031	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	856599	5721031	185433245	825	59958											
CRMP1	1400	broad.mit.edu	37	chr4	5868421	5868421	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccatcctccaggtagacGtcagcataaagggattggtc	11	10	1	1	rs149094396	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:5868421G>A	uc003gip.2	-	3	203	c.102C>T	c.(100-102)GAC>GAT	p.D34D	CRMP1_uc003gin.1_Missense_Mutation_p.T8M|CRMP1_uc003giq.2_Silent_p.D34D|CRMP1_uc003gir.2_Silent_p.D29D|CRMP1_uc003gis.2_Silent_p.D148D	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	34					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		CCAGGTAGACGTCAGCATAAA	0.483													A	5868421	G	A	5868421	2	1	94	1	0	0	0	0	0	0	0	1	3890	1136	40	1		1	CRMP1	4	5868421	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	147390	5868421	185285855	826	59959											
MAN2B2	23324	broad.mit.edu	37	chr4	6612880	6612880	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacaacctcacgctgaacgAcacctcagtcgtccacccag	6	18	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:6612880A>G	uc003gjf.1	+	15	2474	c.2438A>G	c.(2437-2439)GAC>GGC	p.D813G	MAN2B2_uc003gje.1_Missense_Mutation_p.D813G|MAN2B2_uc011bwf.1_Missense_Mutation_p.D762G	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	813					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						ACGCTGAACGACACCTCAGTC	0.652													G	6612880	A	G	6612880	3	3	94	1	0	0	0	0	1	0	0	0	9217	275	10	3	2496	3	MAN2B2	4	6612880	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	744459	6612880	184541396	827	59960											
SLC2A9	56606	broad.mit.edu	37	chr4	10022957	10022957	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtggtcacactccagcaGtgccctccctggccctggag	12	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:10022957G>A	uc003gmc.2	-	1	158	c.97C>T	c.(97-99)CTG>TTG	p.L33L	SLC2A9_uc003gmd.2_Intron	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	solute carrier family 2, member 9 protein	33	Cytoplasmic (Potential).				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			ovary(3)	3						CACTCCAGCAGTGCCCTCCCT	0.592													A	10022957	G	A	10022957	2	1	94	1	0	0	0	0	0	0	0	1	14552	1020	36	4		4	SLC2A9	4	10022957	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3410077	10022957	181131319	828	59961											
HS3ST1	9957	broad.mit.edu	37	chr4	11401560	11401560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagctcctgctggcctagctCggcggggcgggaaggcacta	16	12	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:11401560C>T	uc003gmq.2	-	2	393	c.70G>A	c.(70-72)GAG>AAG	p.E24K		NM_005114	NP_005105	O14792	HS3S1_HUMAN	heparan sulfate D-glucosaminyl	24						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			skin(1)	1						TGGCCTAGCTCGGCGGGGCGG	0.711													T	11401560	C	T	11401560	3	4	94	1	0	0	0	0	1	0	0	0	7363	893	31	1	857	1	HS3ST1	4	11401560	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1378603	11401560	179752716	829	59962											
BOD1L	259282	broad.mit.edu	37	chr4	13579112	13579112	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attttttcttcaccatcatcCtagaagcaataaaattaaag	3	8	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:13579112C>A	uc003gmz.1	-	24	8917	c.8800_splice	c.e24-1	p.D2934_splice		NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division								DNA binding			ovary(5)|breast(1)	6						CACCATCATCCTAGAAGCAAT	0.353													A	13579112	C	A	13579112	5	1	94	1	0	0	0	0	0	0	1	0	1483	695	24	5	368	5	BOD1L	4	13579112	Splice_Site	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2177552	13579112	177575164	830	59963											
PROM1	8842	broad.mit.edu	37	chr4	16020141	16020141	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgttcatgttctccaaCgcctctttggtctccttgat	8	12	4	1	rs140327426	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:16020141C>T	uc003goo.2	-	8	1019	c.807G>A	c.(805-807)GCG>GCA	p.A269A	PROM1_uc003gor.2_Silent_p.A269A|PROM1_uc003gos.2_Silent_p.A260A|PROM1_uc003got.2_Silent_p.A269A|PROM1_uc003gou.2_Silent_p.A260A|PROM1_uc003gop.2_Silent_p.A260A|PROM1_uc003goq.3_Silent_p.A260A|PROM1_uc010iec.1_Silent_p.A147A	NM_006017	NP_006008	O43490	PROM1_HUMAN	prominin 1 isoform 1	269	Extracellular (Potential).				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7						TGTTCTCCAACGCCTCTTTGG	0.498													T	16020141	C	T	16020141	2	4	94	1	0	0	0	0	0	0	0	1	12555	523	19	1		1	PROM1	4	16020141	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2441029	16020141	175134135	831	59964											
STIM2	57620	broad.mit.edu	37	chr4	27024168	27024168	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagacacagcttcagaatgTgactccttaaattcttccat	5	12	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:27024168T>C	uc003gsh.3	+	13	2292	c.2076T>C	c.(2074-2076)TGT>TGC	p.C692C	STIM2_uc003gsg.3_Silent_p.C684C|STIM2_uc010iex.2_3'UTR|STIM2_uc010iey.2_Missense_Mutation_p.V348A	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	597	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			central_nervous_system(1)|skin(1)	2		Breast(46;0.0503)				CTTCAGAATGTGACTCCTTAA	0.383													C	27024168	T	C	27024168	2	2	94	1	0	0	0	0	0	0	0	1	15283	1702	59	3		3	STIM2	4	27024168	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	11004027	27024168	164130108	832	59965											
ARAP2	116984	broad.mit.edu	37	chr4	36150128	36150128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctcaaagataaagatggGcctaaaacatgcacaaataa	7	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:36150128G>A	uc003gsq.1	-	17	3237	c.2899C>T	c.(2899-2901)CCC>TCC	p.P967S		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	967	PH 3.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						ATAAAGATGGGCCTAAAACAT	0.323													A	36150128	G	A	36150128	3	1	94	1	0	0	0	0	1	0	0	0	839	1217	42	2	2283	2	ARAP2	4	36150128	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	9125960	36150128	155004148	833	59966											
ARAP2	116984	broad.mit.edu	37	chr4	36179455	36179455	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataacagagctcacctgttcGtttttgcaaagccacacact	6	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:36179455G>A	uc003gsq.1	-	9	2189	c.1851C>T	c.(1849-1851)AAC>AAT	p.N617N	ARAP2_uc003gsr.1_Silent_p.N617N	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	617	PH 2.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TCACCTGTTCGTTTTTGCAAA	0.333													A	36179455	G	A	36179455	2	1	94	1	0	0	0	0	0	0	0	1	839	1136	40	1		1	ARAP2	4	36179455	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	29327	36179455	154974821	834	59967											
ARAP2	116984	broad.mit.edu	37	chr4	36230285	36230285	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagatcgagatggtcttgaaAccaacttgctacgacttctc	8	10	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:36230285A>G	uc003gsq.1	-	2	1162	c.824T>C	c.(823-825)GTT>GCT	p.V275A	ARAP2_uc003gsr.1_Missense_Mutation_p.V275A	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	275					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TGGTCTTGAAACCAACTTGCT	0.408													G	36230285	A	G	36230285	3	3	94	1	0	0	0	0	1	0	0	0	839	43	2	3	4418	3	ARAP2	4	36230285	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	50830	36230285	154923991	835	59968											
ARAP2	116984	broad.mit.edu	37	chr4	36230390	36230390	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taaagaatggggatggtggtGatccttctaataaaccattt	10	5	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:36230390G>A	uc003gsq.1	-	2	1057	c.719C>T	c.(718-720)TCA>TTA	p.S240L	ARAP2_uc003gsr.1_Missense_Mutation_p.S240L	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	240					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						GGATGGTGGTGATCCTTCTAA	0.398													A	36230390	G	A	36230390	3	1	94	1	0	0	0	0	1	0	0	0	839	1294	45	4	4523	4	ARAP2	4	36230390	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	105	36230390	154923886	836	59969											
RELL1	768211	broad.mit.edu	37	chr4	37636542	37636542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccgtgacctcgccttggCgccgtggtctgctctctctg	13	15	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:37636542C>T	uc003gsz.2	-	5	737	c.647G>A	c.(646-648)CGC>CAC	p.R216H	RELL1_uc010ifc.2_Missense_Mutation_p.R216H	NM_001085399	NP_001078868	Q8IUW5	RELL1_HUMAN	receptor expressed in lymphoid tissues like 1	216	Cytoplasmic (Potential).					cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane					0						CTCGCCTTGGCGCCGTGGTCT	0.542													T	37636542	C	T	37636542	3	4	94	1	0	0	0	0	1	0	0	0	13218	768	27	1	176	1	RELL1	4	37636542	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1406152	37636542	153517734	837	59970											
TBC1D1	23216	broad.mit.edu	37	chr4	38055934	38055934	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagccaccccgcagaaggcGtgcgattcttccagcagata	11	13	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:38055934G>A	uc003gtb.2	+	12	2368	c.2025G>A	c.(2023-2025)GCG>GCA	p.A675A	TBC1D1_uc011byd.1_Silent_p.A769A|TBC1D1_uc010ifd.2_Silent_p.A462A|TBC1D1_uc011byf.1_Silent_p.A546A	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	675						nucleus	Rab GTPase activator activity			ovary(1)	1						CGCAGAAGGCGTGCGATTCTT	0.542													A	38055934	G	A	38055934	2	1	94	1	0	0	0	0	0	0	0	1	15594	1132	40	1		1	TBC1D1	4	38055934	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	419392	38055934	153098342	838	59971											
PDS5A	23244	broad.mit.edu	37	chr4	39871063	39871063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catctggagaccacagttttCcattcttttcacctgttgac	6	12	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:39871063C>T	uc003guv.3	-	22	2996	c.2456G>A	c.(2455-2457)GGA>GAA	p.G819E	PDS5A_uc010ifo.2_Missense_Mutation_p.G779E	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	819					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						CCACAGTTTTCCATTCTTTTC	0.308													T	39871063	C	T	39871063	3	4	94	1	0	0	0	0	1	0	0	0	11691	855	30	4	1605	4	PDS5A	4	39871063	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1815129	39871063	151283213	839	59972											
PDS5A	23244	broad.mit.edu	37	chr4	39881446	39881446	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacttattcatcaatttcaCtagtgcactataaaaagaag	5	7	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:39881446C>A	uc003guv.3	-	18	2434	c.1894G>T	c.(1894-1896)GTG>TTG	p.V632L	PDS5A_uc010ifo.2_Missense_Mutation_p.V592L	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	632					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						ATCAATTTCACTAGTGCACTA	0.353													A	39881446	C	A	39881446	3	1	94	1	0	0	0	0	1	0	0	0	11691	565	20	5	2183	5	PDS5A	4	39881446	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	10383	39881446	151272830	840	59973											
PDS5A	23244	broad.mit.edu	37	chr4	39911885	39911885	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtgagatccttcgctaaatCtgggtgattcattaaacaat	8	7	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:39911885C>A	uc003guv.3	-	10	1606	c.1066G>T	c.(1066-1068)GAT>TAT	p.D356Y	PDS5A_uc010ifo.2_Missense_Mutation_p.D316Y|PDS5A_uc003guw.3_Missense_Mutation_p.D356Y	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	356					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						TTCGCTAAATCTGGGTGATTC	0.333													A	39911885	C	A	39911885	3	1	94	1	0	0	0	0	1	0	0	0	11691	913	32	5	3076	5	PDS5A	4	39911885	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	30439	39911885	151242391	841	59974											
RBM47	54502	broad.mit.edu	37	chr4	40440329	40440329	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactccacgaaggcgaagccGcggttcttcatcttgtcggc	11	13	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:40440329G>A	uc003gvc.2	-	4	1292	c.582C>T	c.(580-582)CGC>CGT	p.R194R	RBM47_uc003gvd.2_Silent_p.R194R|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Silent_p.R156R|RBM47_uc003gvg.1_Silent_p.R194R	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	194	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(3)	3						AGGCGAAGCCGCGGTTCTTCA	0.652													A	40440329	G	A	40440329	2	1	94	1	0	0	0	0	0	0	0	1	13141	1074	38	1		1	RBM47	4	40440329	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	528444	40440329	150713947	842	59975											
APBB2	323	broad.mit.edu	37	chr4	41016408	41016408	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgccaaggtgtcaacaccTgagtcagctggggaaaaaaa	11	9	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:41016408T>C	uc003gvl.2	-	6	657	c.27A>G	c.(25-27)TCA>TCG	p.S9S	APBB2_uc003gvm.2_Silent_p.S9S|APBB2_uc003gvn.2_Silent_p.S9S|APBB2_uc011byt.1_5'UTR	NM_173075	NP_775098	Q92870	APBB2_HUMAN	amyloid beta A4 precursor protein-binding,	9					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			ovary(2)|large_intestine(1)	3						TGTCAACACCTGAGTCAGCTG	0.423													C	41016408	T	C	41016408	2	2	94	1	0	0	0	0	0	0	0	1	761	1567	55	3		3	APBB2	4	41016408	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	576079	41016408	150137868	843	59976											
LIMCH1	22998	broad.mit.edu	37	chr4	41683053	41683053	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgtctacctcttcctccAtgactgaaggcagtgggaca	10	12	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:41683053A>G	uc003gvu.3	+	20	2596	c.2542A>G	c.(2542-2544)ATG>GTG	p.M848V	LIMCH1_uc003gvv.3_Missense_Mutation_p.M848V|LIMCH1_uc003gvw.3_Missense_Mutation_p.M847V|LIMCH1_uc003gvx.3_Missense_Mutation_p.M860V|LIMCH1_uc003gwe.3_Missense_Mutation_p.M771V|LIMCH1_uc003gvy.3_Missense_Mutation_p.M676V|LIMCH1_uc003gwa.3_Missense_Mutation_p.M688V|LIMCH1_uc003gvz.3_Missense_Mutation_p.M1232V|LIMCH1_uc011byu.1_Missense_Mutation_p.M681V|LIMCH1_uc003gwc.3_Missense_Mutation_p.M693V|LIMCH1_uc003gwd.3_Missense_Mutation_p.M681V|LIMCH1_uc011byv.1_Missense_Mutation_p.M598V|LIMCH1_uc011byw.1_Missense_Mutation_p.M147V	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	848					actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						CTCTTCCTCCATGACTGAAGG	0.433													G	41683053	A	G	41683053	3	3	94	1	0	0	0	0	1	0	0	0	8797	217	8	3	2648	3	LIMCH1	4	41683053	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	666645	41683053	149471223	844	59977											
YIPF7	285525	broad.mit.edu	37	chr4	44624560	44624560	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagagactacaccagccaatGatgaccagggatgacatgat	11	9	0	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:44624560G>A	uc010ifx.1	-	6	731	c.714C>T	c.(712-714)ATC>ATT	p.I238I		NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	238	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0						ACCAGCCAATGATGACCAGGG	0.453													A	44624560	G	A	44624560	2	1	94	1	0	0	0	0	0	0	0	1	17480	1280	45	4		4	YIPF7	4	44624560	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2941507	44624560	146529716	845	59978											
GABRA2	2555	broad.mit.edu	37	chr4	46264068	46264068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaataaaccagtccatggCagttgcataagccactttgg	9	10	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:46264068C>T	uc003gxc.3	-	8	1607	c.934G>A	c.(934-936)GCC>ACC	p.A312T	GABRA2_uc010igc.2_Missense_Mutation_p.A312T|GABRA2_uc011bzc.1_Missense_Mutation_p.A257T|GABRA2_uc003gxe.2_Missense_Mutation_p.A312T	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	312					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAGTCCATGGCAGTTGCATAA	0.413													T	46264068	C	T	46264068	3	4	94	1	0	0	0	0	1	0	0	0	6161	710	25	2	429	2	GABRA2	4	46264068	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1639508	46264068	144890208	846	59979											
NFXL1	152518	broad.mit.edu	37	chr4	47912972	47912972	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctggctgcagcttggttaGctttcttgatttcttcaaat	8	8	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:47912972G>T	uc010igh.2	-	3	452	c.275C>A	c.(274-276)GCT>GAT	p.A92D	NFXL1_uc003gxp.2_Missense_Mutation_p.A92D|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Missense_Mutation_p.A92D	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like	92						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						AGCTTGGTTAGCTTTCTTGAT	0.328													T	47912972	G	T	47912972	3	4	94	1	0	0	0	0	1	0	0	0	10388	971	34	5	2544	5	NFXL1	4	47912972	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1648904	47912972	143241304	847	59980											
SLC10A4	201780	broad.mit.edu	37	chr4	48490841	48490841	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatcctctagatgaagatgAagatacagatatttcttata	7	5	2	7			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:48490841A>G	uc003gyc.2	+	3	1418	c.1199A>G	c.(1198-1200)GAA>GGA	p.E400G	ZAR1_uc003gyd.2_5'Flank	NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	400	Extracellular (Potential).					integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)	1						GATGAAGATGAAGATACAGAT	0.353													G	48490841	A	G	48490841	3	3	94	1	0	0	0	0	1	0	0	0	14376	246	9	3	1209	3	SLC10A4	4	48490841	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	577869	48490841	142663435	848	59981											
FRYL	285527	broad.mit.edu	37	chr4	48572887	48572887	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagcagttcaaatattcGtaccagttgtactcgtaaaa	7	9	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:48572887G>A	uc003gyh.1	-	27	3558	c.2953C>T	c.(2953-2955)CGA>TGA	p.R985*	FRYL_uc003gyk.2_Nonsense_Mutation_p.R985*	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	985					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						TCAAATATTCGTACCAGTTGT	0.398													A	48572887	G	A	48572887	4	1	94	1	0	0	0	0	0	1	0	0	6064	1153	40	1	6240	1	FRYL	4	48572887	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	82046	48572887	142581389	849	59982											
LRRC66	339977	broad.mit.edu	37	chr4	52861933	52861933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagccctcgtttgaatacgCgttgtccaggccagggcttt	12	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:52861933C>T	uc003gzi.2	-	4	1268	c.1255G>A	c.(1255-1257)GCG>ACG	p.A419T		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	419						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						TTTGAATACGCGTTGTCCAGG	0.532													T	52861933	C	T	52861933	3	4	94	1	0	0	0	0	1	0	0	0	9018	768	27	1	1391	1	LRRC66	4	52861933	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4289046	52861933	138292343	850	59983											
RASL11B	65997	broad.mit.edu	37	chr4	53731563	53731563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcattcgctgggcagatgCtgtggtgatcgttttctcca	13	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:53731563C>T	uc003gzt.2	+	4	518	c.338C>T	c.(337-339)GCT>GTT	p.A113V		NM_023940	NP_076429	Q9BPW5	RSLBB_HUMAN	RAS-like family 11 member B	113	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(32;0.0302)			TGGGCAGATGCTGTGGTGATC	0.552													T	53731563	C	T	53731563	3	4	94	1	0	0	0	0	1	0	0	0	13082	797	28	2	352	2	RASL11B	4	53731563	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	869630	53731563	137422713	851	59984											
PDGFRA	5156	broad.mit.edu	37	chr4	54257305	54257305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctactacaaataaaattaCggtaattaataaatactccg	3	8	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:54257305C>T	uc003haa.2	+	8	821	c.635C>T	c.(634-636)ACG>ATG	p.T212M	FIP1L1_uc003gzx.3_Missense_Mutation_p.T197M|FIP1L1_uc011bzt.1_Missense_Mutation_p.T212M|FIP1L1_uc003gzy.2_Missense_Mutation_p.T212M|FIP1L1_uc011bzu.1_Missense_Mutation_p.T197M|FIP1L1_uc003gzz.2_Missense_Mutation_p.T197M|FIP1L1_uc003hab.2_Missense_Mutation_p.T200M|FIP1L1_uc003hac.2_Missense_Mutation_p.T16M	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	Error:Variant_position_missing_in_P16234_after_alignment					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AATAAAATTACGGTAATTAAT	0.363			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			T	54257305	C	T	54257305	3	4	94	1	0	0	0	0	1	0	0	0	11661	550	19	1		1	PDGFRA	4	54257305	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	525742	54257305	136896971	852	59985											
PDGFRA	5156	broad.mit.edu	37	chr4	55139788	55139788	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcccgagacaggagtacCgtggagggccgtgtgacttt	14	11	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:55139788C>T	uc003han.3	+	10	1780	c.1449C>T	c.(1447-1449)ACC>ACT	p.T483T	PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Silent_p.T377T|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	483	Ig-like C2-type 5.|Extracellular (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ACAGGAGTACCGTGGAGGGCC	0.512			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			T	55139788	C	T	55139788	2	4	94	1	0	0	0	0	0	0	0	1	11661	639	23	1		1	PDGFRA	4	55139788	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	882483	55139788	136014488	853	59986											
CEP135	9662	broad.mit.edu	37	chr4	56840987	56840987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgagacaggtcaccttctcGtttagatacatttctgaaag	8	9	3	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:56840987G>A	uc003hbi.2	+	11	1559	c.1325G>A	c.(1324-1326)CGT>CAT	p.R442H	CEP135_uc003hbj.2_Missense_Mutation_p.R148H	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	442					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)					TCACCTTCTCGTTTAGATACA	0.373													A	56840987	G	A	56840987	3	1	94	1	0	0	0	0	1	0	0	0	3247	1145	40	1	1363	1	CEP135	4	56840987	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1701199	56840987	134313289	854	59987											
AASDH	132949	broad.mit.edu	37	chr4	57244505	57244505	+	Frame_Shift_Del	DEL	T	T	-													ttttctttttcatatttctcTtttccatcatttagcatcaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:57244505delT	uc003hbn.2	-	4	630	c.477delA	c.(475-477)AAAfs	p.K159fs	AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Frame_Shift_Del_p.K6fs|AASDH_uc003hbo.2_Frame_Shift_Del_p.K59fs|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Frame_Shift_Del_p.K159fs|AASDH_uc003hbp.2_Frame_Shift_Del_p.K159fs	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	159					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CATATTTCTCTTTTCCATCAT	0.338													-	57244505	T	-	57244505	7	5	94	1	0	1	0	1	0	0	0	0	22	1606	56	0	2867	0	AASDH	4	57244505	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	403518	57244505	133909771	855	59988											
SRP72	6731	broad.mit.edu	37	chr4	57355575	57355575	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatctgcattagttaccatgTatagccatgaagaagatatt	7	6	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:57355575T>C	uc003hbv.2	+	13	1286	c.1246T>C	c.(1246-1248)TAT>CAT	p.Y416H	SRP72_uc010ihe.2_Missense_Mutation_p.Y355H|SRP72_uc003hbw.1_Missense_Mutation_p.Y177H	NM_006947	NP_008878	O76094	SRP72_HUMAN	signal recognition particle 72kDa	416	TPR 4.				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)					AGTTACCATGTATAGCCATGA	0.378													C	57355575	T	C	57355575	3	2	94	1	0	0	0	0	1	0	0	0	15156	1638	57	3	1296	3	SRP72	4	57355575	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	111070	57355575	133798701	856	59989											
POLR2B	5431	broad.mit.edu	37	chr4	57865857	57865857	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcaagaagttcccatcatTattgtgttcagagcattagg	9	7	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:57865857T>C	uc003hcl.1	+	7	853	c.810T>C	c.(808-810)ATT>ATC	p.I270I	POLR2B_uc011cae.1_Silent_p.I263I|POLR2B_uc011caf.1_Silent_p.I195I	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	270					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)					TTCCCATCATTATTGTGTTCA	0.358													C	57865857	T	C	57865857	2	2	94	1	0	0	0	0	0	0	0	1	12215	1742	61	3		3	POLR2B	4	57865857	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	510282	57865857	133288419	857	59990											
IGFBP7	3490	broad.mit.edu	37	chr4	57898658	57898658	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgatgctgaagcctgtcCttgggaattggatgcatggc	14	8	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:57898658C>A	uc003hcn.2	-	4	785	c.763G>T	c.(763-765)GGA>TGA	p.G255*	IGFBP7_uc011cag.1_Nonsense_Mutation_p.G255*	NM_001553	NP_001544	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	255	Ig-like C2-type.				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			lung(2)|central_nervous_system(1)	3	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAAGCCTGTCCTTGGGAATTG	0.393													A	57898658	C	A	57898658	4	1	94	1	0	0	0	0	0	1	0	0	7584	690	24	5	93	5	IGFBP7	4	57898658	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	32801	57898658	133255618	858	59991											
UGT2B7	7364	broad.mit.edu	37	chr4	69973866	69973866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcatggtggagccaatgGcatctacgaggcaatctacc	10	11	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:69973866G>A	uc003heg.3	+	5	1182	c.1136G>A	c.(1135-1137)GGC>GAC	p.G379D	UGT2B7_uc010ihq.2_Intron	NM_001074	NP_001065	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2B7 precursor	379					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|skin(1)	2						GGAGCCAATGGCATCTACGAG	0.443													A	69973866	G	A	69973866	3	1	94	1	0	0	0	0	1	0	0	0	16959	1203	42	2	1154	2	UGT2B7	4	69973866	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	12075208	69973866	121180410	859	59992											
C4orf40	401137	broad.mit.edu	37	chr4	71024255	71024255	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatccgtggttttcccttaGctactcagttgaatgttcct	7	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:71024255G>T	uc003hfa.3	+	4	359	c.286G>T	c.(286-288)GCT>TCT	p.A96S	C4orf40_uc003hfb.3_Missense_Mutation_p.A96S	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	hypothetical protein LOC401137 precursor	96						extracellular region					0						TTTTCCCTTAGCTACTCAGTT	0.507													T	71024255	G	T	71024255	3	4	94	1	0	0	0	0	1	0	0	0	2269	971	34	5	296	5	C4orf40	4	71024255	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1050389	71024255	120130021	860	59993											
AMTN	401138	broad.mit.edu	37	chr4	71394459	71394459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgttaccaatttttgtcaCacaacttggagcccaggtaa	9	9	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:71394459C>T	uc003hfk.1	+	6	403	c.314C>T	c.(313-315)ACA>ATA	p.T105I	AMTN_uc010ihy.1_Missense_Mutation_p.T104I	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	amelotin precursor	105					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				large_intestine(1)|central_nervous_system(1)	2			Lung(101;0.235)			ATTTTTGTCACACAACTTGGA	0.299													T	71394459	C	T	71394459	3	4	94	1	0	0	0	0	1	0	0	0	590	478	17	4	332	4	AMTN	4	71394459	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	370204	71394459	119759817	861	59994											
GC	2638	broad.mit.edu	37	chr4	72634025	72634025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagaaacctaccctggtgTcatagcagtcagggtcagcc	10	13	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:72634025T>C	uc003hge.2	-	3	407	c.254A>G	c.(253-255)GAC>GGC	p.D85G	GC_uc003hgd.2_5'UTR|GC_uc010iie.2_Missense_Mutation_p.D85G|GC_uc010iif.2_Missense_Mutation_p.D104G	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	85	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TACCCTGGTGTCATAGCAGTC	0.517													C	72634025	T	C	72634025	3	2	94	1	0	0	0	0	1	0	0	0	6282	1667	58	3	1210	3	GC	4	72634025	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1239566	72634025	118520251	862	59995											
CCDC158	339965	broad.mit.edu	37	chr4	77317477	77317477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaatattcttccaaaacaCgttcaaagtgttcctttcca	5	10	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:77317477C>T	uc003hkb.3	-	3	386	c.233G>A	c.(232-234)CGT>CAT	p.R78H	CCDC158_uc003hkd.2_Missense_Mutation_p.R78H	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	78	Potential.									skin(3)|ovary(2)|pancreas(1)	6						TTCCAAAACACGTTCAAAGTG	0.398													T	77317477	C	T	77317477	3	4	94	1	0	0	0	0	1	0	0	0	2790	536	19	1	3196	1	CCDC158	4	77317477	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4683452	77317477	113836799	863	59996											
SHROOM3	57619	broad.mit.edu	37	chr4	77661562	77661562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaagtcccgaagagccgCctgccccctcgcacccgcac	8	22	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:77661562C>T	uc011cbx.1	+	5	3189	c.2236C>T	c.(2236-2238)CCT>TCT	p.P746S	SHROOM3_uc011cbz.1_Missense_Mutation_p.P570S|SHROOM3_uc003hkf.1_Missense_Mutation_p.P621S|SHROOM3_uc003hkg.2_Missense_Mutation_p.P524S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	746					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			CGAAGAGCCGCCTGCCCCCTC	0.697													T	77661562	C	T	77661562	3	4	94	1	0	0	0	0	1	0	0	0	14295	739	26	2	2254	2	SHROOM3	4	77661562	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	344085	77661562	113492714	864	59997											
BMP2K	55589	broad.mit.edu	37	chr4	79793950	79793950	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactcctcctatagtgccaaTaggcaagtatttttccagtg	8	10	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:79793950T>C	uc003hlk.2	+	13	1957	c.1791T>C	c.(1789-1791)AAT>AAC	p.N597N	BMP2K_uc003hlj.2_Silent_p.N597N|BMP2K_uc003hll.2_Silent_p.N61N	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	597						nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1						ATAGTGCCAATAGGCAAGTAT	0.378													C	79793950	T	C	79793950	2	2	94	1	0	0	0	0	0	0	0	1	1460	1403	49	3		3	BMP2K	4	79793950	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2132388	79793950	111360326	865	59998											
BMP2K	55589	broad.mit.edu	37	chr4	79832337	79832337	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaaaagaatgaaaagaAcctccctcaacacaggtttc	7	10	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:79832337A>G	uc003hlk.2	+	16	2802	c.2636A>G	c.(2635-2637)AAC>AGC	p.N879S	PAQR3_uc003hlm.2_Intron|PAQR3_uc003hln.2_Intron|uc010ijm.1_5'Flank	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	879						nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1						AATGAAAAGAACCTCCCTCAA	0.483													G	79832337	A	G	79832337	3	3	94	1	0	0	0	0	1	0	0	0	1460	43	2	3	2736	3	BMP2K	4	79832337	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	38387	79832337	111321939	866	59999											
SEC31A	22872	broad.mit.edu	37	chr4	83763593	83763594	+	Frame_Shift_Ins	INS	-	-	C													tgaggtcgatacattgctgaINScccccctgttccgaagggat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:83763593_83763594insC	uc003hnf.2	-	22	2831_2832	c.2667_2668insG	c.(2665-2670)GGGTCAfs	p.G889fs	SEC31A_uc003hnd.2_Frame_Shift_Ins_p.G45fs|SEC31A_uc003hne.2_Frame_Shift_Ins_p.G653fs|SEC31A_uc011ccl.1_Frame_Shift_Ins_p.G850fs|SEC31A_uc003hnl.2_Intron|SEC31A_uc003hng.2_Frame_Shift_Ins_p.G889fs|SEC31A_uc003hnh.2_Frame_Shift_Ins_p.G889fs|SEC31A_uc003hni.2_Intron|SEC31A_uc003hnj.2_Frame_Shift_Ins_p.G850fs|SEC31A_uc011ccm.1_Frame_Shift_Ins_p.G884fs|SEC31A_uc011ccn.1_Frame_Shift_Ins_p.G889fs|SEC31A_uc003hnk.2_Frame_Shift_Ins_p.G850fs|SEC31A_uc003hnm.2_Frame_Shift_Ins_p.G889fs	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	889_890	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				TACATTGCTGACCCCCCTGTTC	0.46													C	83763594	-	C	83763593	7	5	94	1	0	1	1	0	0	0	0	0	13998	275	10	0	1018	0	SEC31A	4	83763593	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	3931256	83763593	107390683	867	60000	272	2									
SEC31A	22872	broad.mit.edu	37	chr4	83763594	83763595	+	Frame_Shift_Ins	INS	-	-	C													gaggtcgatacattgctgacINSccccctgttccgaagggata							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:83763593_83763594A>AC	uc003hnh.3	-	21	2847_2848	c.2667_2668T>GT	c.(2665-2670)gggtcafs	p.G889fs	SEC31A_uc003hnd.3_Frame_Shift_Ins_p.G45fs|SEC31A_uc003hne.3_Frame_Shift_Ins_p.G653fs|SEC31A_uc011ccl.2_Frame_Shift_Ins_p.G850fs|SEC31A_uc003hnl.3_Intron|SEC31A_uc003hng.3_Frame_Shift_Ins_p.G889fs|SEC31A_uc011ccm.2_Frame_Shift_Ins_p.G884fs|SEC31A_uc003hni.3_Intron|SEC31A_uc003hnk.3_Frame_Shift_Ins_p.G850fs|SEC31A_uc003hnf.3_Frame_Shift_Ins_p.G889fs|SEC31A_uc011ccn.2_Frame_Shift_Ins_p.G889fs|SEC31A_uc003hnm.3_Frame_Shift_Ins_p.G889fs	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	889	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TACATTGCTGACCCCCCTGTTC	0.46													C	83763595	-	C	83763594	7	5	94	1	0	1	1	0	0	0	0	0	13998	494	18	0	1019	0	SEC31A	4	83763594	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	83763594	107390682	868	60001	272	2									
HELQ	113510	broad.mit.edu	37	chr4	84367172	84367172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaaaatacttactgctaGtgtagaggatttttgctagg	10	4	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:84367172G>A	uc003hom.2	-	5	1639	c.1460C>T	c.(1459-1461)ACT>ATT	p.T487I	HELQ_uc010ikb.2_Missense_Mutation_p.T420I|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	487	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)|skin(1)	3						CTTACTGCTAGTGTAGAGGAT	0.259								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	84367172	G	A	84367172	3	1	94	1	0	0	0	0	1	0	0	0	7047	1029	36	4	1901	4	HELQ	4	84367172	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	603578	84367172	106787104	869	60002											
CDS1	1040	broad.mit.edu	37	chr4	85525494	85525495	+	Frame_Shift_Ins	INS	-	-	A													atagaacccctgagattctcINSaaaaaagctctatctggttt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:85525494_85525495insA	uc011ccv.1	+	2	714_715	c.216_217insA	c.(214-219)CTCAAAfs	p.L72fs		NM_001263	NP_001254	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase 1	72_73					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			large_intestine(2)|ovary(1)|breast(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CTGAGATTCTCAAAAAAGCTCT	0.376													A	85525495	-	A	85525494	7	5	94	1	0	1	1	0	0	0	0	0	3177	813	29	0	222	0	CDS1	4	85525494	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1158322	85525494	105628782	870	60003	273	2									
CDS1	1040	broad.mit.edu	37	chr4	85525495	85525496	+	Frame_Shift_Ins	INS	-	-	A													tagaacccctgagattctcaINSaaaaagctctatctggttta							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:85525494_85525495C>CA	uc011ccv.2	+	1	714_715	c.216_217C>CA	c.(214-219)ctcaaafs	p.L72fs		NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	72					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CTGAGATTCTCAAAAAAGCTCT	0.376													A	85525496	-	A	85525495	7	5	94	1	0	1	1	0	0	0	0	0	3177	131	5	0	223	0	CDS1	4	85525495	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	85525495	105628781	871	60004	273	2									
WDFY3	23001	broad.mit.edu	37	chr4	85676453	85676453	+	Frame_Shift_Del	DEL	A	A	-													tgcggagcattcccaataatAaaaaaacagcttctgtgcat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:85676452_85676452TA>T	uc003hpd.3	-	33	5934	c.5526_5526TA>A	c.(5524-5526)ttafs	p.L1842fs		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1842						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTCCCAATAATAAAAAAACAG	0.423													-	85676453	A	-	85676453	7	5	94	1	0	1	0	1	0	0	0	0	17267	372	13	0	5195	0	WDFY3	4	85676453	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	150958	85676453	105477823	872	60005											
WDFY3	23001	broad.mit.edu	37	chr4	85719240	85719240	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcaccacaatttaaaggActtgccaaacgtaaaaactc	6	11	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:85719240A>G	uc003hpd.2	-	18	3252	c.2844T>C	c.(2842-2844)AGT>AGC	p.S948S		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	948						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATTTAAAGGACTTGCCAAAC	0.323													G	85719240	A	G	85719240	2	3	94	1	0	0	0	0	0	0	0	1	17267	272	10	3		3	WDFY3	4	85719240	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	42787	85719240	105435036	873	60006											
WDFY3	23001	broad.mit.edu	37	chr4	85731038	85731038	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggacagagcagagccatAcctgtcaaaagaatctgtgg	12	8	2	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:85731038A>G	uc003hpd.2	-	14	2753	c.2345_splice	c.e14+1	p.S782_splice	WDFY3_uc003hpf.2_Missense_Mutation_p.Y783H	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform							cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCAGAGCCATACCTGTCAAAA	0.358													G	85731038	A	G	85731038	5	3	94	1	0	0	0	0	0	0	1	0	17267	405	14	3	8496	3	WDFY3	4	85731038	Splice_Site	SNP	A	TCGA-BR-8487-01A-11D-2394-08	11798	85731038	105423238	874	60007											
PTPN13	5783	broad.mit.edu	37	chr4	87637691	87637691	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taatccttttagaaccagttCgaagatacaaaacttatcat	4	8	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:87637691C>T	uc003hpz.2	+	8	1684	c.1204C>T	c.(1204-1206)CGA>TGA	p.R402*	PTPN13_uc003hpy.2_Nonsense_Mutation_p.R402*|PTPN13_uc003hqa.2_Nonsense_Mutation_p.R402*|PTPN13_uc003hqb.2_Nonsense_Mutation_p.R402*	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	402						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGAACCAGTTCGAAGATACAA	0.328													T	87637691	C	T	87637691	4	4	94	1	0	0	0	0	0	1	0	0	12782	876	31	1	1230	1	PTPN13	4	87637691	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1906653	87637691	103516585	875	60008											
PTPN13	5783	broad.mit.edu	37	chr4	87684338	87684338	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggatcatcaaacaccaAaacaggcatagtttaatttt	6	8	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:87684338A>G	uc003hpz.2	+	24	4492	c.4012A>G	c.(4012-4014)AAA>GAA	p.K1338E	PTPN13_uc003hpy.2_Missense_Mutation_p.K1338E|PTPN13_uc003hqa.2_Missense_Mutation_p.K1319E|PTPN13_uc003hqb.2_Missense_Mutation_p.K1147E	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1338						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAAACACCAAAACAGGCATA	0.358													G	87684338	A	G	87684338	3	3	94	1	0	0	0	0	1	0	0	0	12782	15	1	3	4102	3	PTPN13	4	87684338	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	46647	87684338	103469938	876	60009											
KLHL8	57563	broad.mit.edu	37	chr4	88091339	88091339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtggatcatatctctccaCgctagataaagaagccattc	7	10	2	2	rs140898788		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:88091339C>T	uc011cdb.1	-	8	1814	c.1429G>A	c.(1429-1431)GTG>ATG	p.V477M	KLHL8_uc003hql.1_Missense_Mutation_p.V477M|KLHL8_uc003hqm.1_Missense_Mutation_p.V401M|KLHL8_uc003hqn.1_Missense_Mutation_p.V294M|KLHL8_uc010ikj.1_Missense_Mutation_p.V126M	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	kelch-like 8	477	Kelch 4.										0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TATCTCTCCACGCTAGATAAA	0.378													T	88091339	C	T	88091339	3	4	94	1	0	0	0	0	1	0	0	0	8395	536	19	1	445	1	KLHL8	4	88091339	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	407001	88091339	103062937	877	60010											
HERC5	51191	broad.mit.edu	37	chr4	89407334	89407334	+	Frame_Shift_Del	DEL	T	T	-													gaactcttgcaccgtctcaaTttttttgtagaagtatgcag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:89407333_89407333AT>A	uc003hrt.3	+	13	1958	c.1805_1805AT>A	c.(1804-1806)aatfs	p.N602fs	HERC5_uc011cdm.2_Frame_Shift_Del_p.N240fs	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	Homo sapiens hect domain and RLD 5 (HERC5), mRNA.	602					ISG15-protein conjugation|innate immune response|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CACCGTCTCAATTTTTTTGTA	0.348													-	89407334	T	-	89407334	7	5	94	1	0	1	0	1	0	0	0	0	7061	1490	52	0	1860	0	HERC5	4	89407334	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	1315995	89407334	101746942	878	60011											
MMRN1	22915	broad.mit.edu	37	chr4	90856582	90856582	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccgtctctttggagatggAgaaagagtctctcagaggtg	13	8	3	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:90856582A>G	uc003hst.2	+	6	1822	c.1751A>G	c.(1750-1752)GAG>GGG	p.E584G	MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.E326G	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	584	Potential.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTGGAGATGGAGAAAGAGTCT	0.343													G	90856582	A	G	90856582	3	3	94	1	0	0	0	0	1	0	0	0	9670	304	11	3	1773	3	MMRN1	4	90856582	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1449248	90856582	100297694	879	60012											
FAM190A	401145	broad.mit.edu	37	chr4	91229794	91229794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacattctgttggttttaGtagttcacgaaataagaaga	9	4	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:91229794G>A	uc003hsv.3	+	2	699	c.359G>A	c.(358-360)AGT>AAT	p.S120N	FAM190A_uc003hsu.3_Missense_Mutation_p.S120N|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.S120N	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	KIAA1680 protein isoform 1	120										large_intestine(1)|ovary(1)	2						GTTGGTTTTAGTAGTTCACGA	0.353													A	91229794	G	A	91229794	3	1	94	1	0	0	0	0	1	0	0	0	5521	1029	36	4	361	4	FAM190A	4	91229794	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	373212	91229794	99924482	880	60013											
UNC5C	8633	broad.mit.edu	37	chr4	96140294	96140294	+	Frame_Shift_Del	DEL	G	G	-													aaactcagagaggtcatcttGgggggtgacagcacctgagg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:96140294delG	uc003htp.1	-	9	1625	c.1471delC	c.(1471-1473)CAAfs	p.Q491fs	UNC5C_uc010ilc.1_Frame_Shift_Del_p.Q510fs|UNC5C_uc003htq.2_Frame_Shift_Del_p.Q510fs	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	491	Cytoplasmic (Potential).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AGGTCATCTTGGGGGGTGACA	0.502													-	96140294	G	-	96140294	7	5	94	1	0	1	0	1	0	0	0	0	16990	1357	47	0	1356	0	UNC5C	4	96140294	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	4910500	96140294	95013982	881	60014											
ADH1B	125	broad.mit.edu	37	chr4	100232725	100232725	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccagtcagtagcagcataGggtttattgagaggttctgg	14	6	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:100232725G>T	uc003hus.3	-	7	1001	c.917C>A	c.(916-918)CCT>CAT	p.P306H	ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.P266H|ADH1B_uc011ceh.1_Missense_Mutation_p.P151H|ADH1B_uc011cei.1_Missense_Mutation_p.P266H	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	306					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			ovary(1)|breast(1)	2				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TAGCAGCATAGGGTTTATTGA	0.438													T	100232725	G	T	100232725	3	4	94	1	0	0	0	0	1	0	0	0	308	1000	35	5	222	5	ADH1B	4	100232725	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4092431	100232725	90921551	882	60015											
ADH1C	126	broad.mit.edu	37	chr4	100257923	100257923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtttcaaaacgtcaggaCggtacggatactgcaatagg	11	7	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:100257923C>T	uc003huu.2	-	11	1199	c.1114G>A	c.(1114-1116)GTC>ATC	p.V372I		NM_000669	NP_000660	P00326	ADH1G_HUMAN	class I alcohol dehydrogenase, gamma subunit	372					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AACGTCAGGACGGTACGGATA	0.418									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				T	100257923	C	T	100257923	3	4	94	1	0	0	0	0	1	0	0	0	309	536	19	1	17	1	ADH1C	4	100257923	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	25198	100257923	90896353	883	60016											
ADH1C	126	broad.mit.edu	37	chr4	100266039	100266039	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttggcaactttgactgcagAcccataaccagtcgaaaatc	7	12	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:100266039A>T	uc003huu.2	-	7	632	c.547T>A	c.(547-549)TCT>ACT	p.S183T		NM_000669	NP_000660	P00326	ADH1G_HUMAN	class I alcohol dehydrogenase, gamma subunit	183					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTGACTGCAGACCCATAACCA	0.473									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				T	100266039	A	T	100266039	3	4	94	1	0	0	0	0	1	0	0	0	309	275	10	5	600	5	ADH1C	4	100266039	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	8116	100266039	90888237	884	60017											
DDIT4L	115265	broad.mit.edu	37	chr4	101108963	101108963	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctctactaaagaaaaagtcCctgaagctagtccatgagca	7	11	1	3	rs142511472		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:101108963C>A	uc003hvq.2	-	3	656	c.453G>T	c.(451-453)AGG>AGT	p.R151S		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	151					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		AGAAAAAGTCCCTGAAGCTAG	0.423													A	101108963	C	A	101108963	3	1	94	1	0	0	0	0	1	0	0	0	4332	622	22	5	132	5	DDIT4L	4	101108963	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	842924	101108963	90045313	885	60018											
MANBA	4126	broad.mit.edu	37	chr4	103553303	103553303	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtaaaataatatagttcGtgtcttctcagtcatgagga	10	5	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:103553303G>A	uc003hwg.2	-	17	2651	c.2551C>T	c.(2551-2553)CGA>TGA	p.R851*	MANBA_uc011ces.1_Nonsense_Mutation_p.R794*	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor	851					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		AATATAGTTCGTGTCTTCTCA	0.448													A	103553303	G	A	103553303	4	1	94	1	0	0	0	0	0	1	0	0	9219	1153	40	1	92	1	MANBA	4	103553303	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2444340	103553303	87600973	886	60019											
TACR3	6870	broad.mit.edu	37	chr4	104640312	104640312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaatggccgtcatggagTagatgctggcgaacacagct	13	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:104640312T>C	uc003hxe.1	-	1	664	c.521A>G	c.(520-522)TAC>TGC	p.Y174C		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	174	Helical; Name=3; (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CGTCATGGAGTAGATGCTGGC	0.512													C	104640312	T	C	104640312	3	2	94	1	0	0	0	0	1	0	0	0	15504	1638	57	3	896	3	TACR3	4	104640312	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1087009	104640312	86513964	887	60020											
TACR3	6870	broad.mit.edu	37	chr4	104640558	104640558	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactgccaccaccacaccaTacgccagggaccagagcgcg	9	19	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:104640558T>C	uc003hxe.1	-	1	418	c.275A>G	c.(274-276)TAT>TGT	p.Y92C		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	92	Helical; Name=1; (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CACCACACCATACGCCAGGGA	0.617													C	104640558	T	C	104640558	3	2	94	1	0	0	0	0	1	0	0	0	15504	1406	49	3	1142	3	TACR3	4	104640558	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	246	104640558	86513718	888	60021											
TBCK	93627	broad.mit.edu	37	chr4	107165797	107165797	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccttacttggggagtgtgcaGataggtggtttggatcgaat	15	5	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:107165797G>T	uc010ilv.2	-	11	1421	c.1056C>A	c.(1054-1056)ATC>ATA	p.I352I	TBCK_uc003hyb.2_Silent_p.I95I|TBCK_uc003hye.2_Silent_p.I313I|TBCK_uc003hyc.2_Silent_p.I289I|TBCK_uc003hyd.2_Silent_p.I180I|TBCK_uc003hyf.2_Silent_p.I352I	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	352						intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						GGAGTGTGCAGATAGGTGGTT	0.348													T	107165797	G	T	107165797	2	4	94	1	0	0	0	0	0	0	0	1	15633	932	33	5		5	TBCK	4	107165797	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2525239	107165797	83988479	889	60022											
SEC24B	10427	broad.mit.edu	37	chr4	110448484	110448484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactttttttttaggtgagcGgagaattagagtacatacac	10	5	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:110448484G>A	uc003hzk.2	+	18	3027	c.2972G>A	c.(2971-2973)CGG>CAG	p.R991Q	SEC24B_uc003hzl.2_Missense_Mutation_p.R956Q|SEC24B_uc011cfp.1_Missense_Mutation_p.R1021Q|SEC24B_uc011cfq.1_Missense_Mutation_p.R990Q|SEC24B_uc011cfr.1_Missense_Mutation_p.R955Q	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	991					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTAGGTGAGCGGAGAATTAGA	0.333													A	110448484	G	A	110448484	3	1	94	1	0	0	0	0	1	0	0	0	13995	1116	39	1	3042	1	SEC24B	4	110448484	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3282687	110448484	80705792	890	60023											
CFI	3426	broad.mit.edu	37	chr4	110682806	110682807	+	Frame_Shift_Del	DEL	AG	AG	-													agacattcagtggaatttatAgagagatcagacaacttaaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:110682806_110682807delAG	uc003hzr.3	-	4	732_733	c.524_525delCT	c.(523-525)TCTfs	p.S175fs	CFI_uc003hzq.2_5'UTR|CFI_uc011cft.1_Frame_Shift_Del_p.S175fs|CFI_uc003hzs.3_Frame_Shift_Del_p.S175fs	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	175	SRCR.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TGGAATTTATAGAGAGATCAGA	0.356													-	110682807	AG	-	110682806	7	5	94	1	0	1	0	1	0	0	0	0	3289	407	15	0	1266	0	CFI	4	110682806	Frame_Shift_Del	DEL	AG	TCGA-BR-8487-01A-11D-2394-08	234322	110682806	80471470	891	60024											
RRH	10692	broad.mit.edu	37	chr4	110756617	110756617	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccatctgccttcctgaCgtaggtacaacacttttctc	6	14	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:110756617C>T	uc003hzv.2	+	3	427	c.393C>T	c.(391-393)GAC>GAT	p.D131D		NM_006583	NP_006574	O14718	OPSX_HUMAN	peropsin	131	Cytoplasmic.				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		GCCTTCCTGACGTAGGTACAA	0.383													T	110756617	C	T	110756617	2	4	94	1	0	0	0	0	0	0	0	1	13680	535	19	1		1	RRH	4	110756617	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	73811	110756617	80397659	892	60025											
EGF	1950	broad.mit.edu	37	chr4	110902085	110902085	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggttttatgaaagcctcAgatgggaaaacgtgtctggc	13	6	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:110902085A>G	uc003hzy.3	+	15	2777	c.2325A>G	c.(2323-2325)TCA>TCG	p.S775S	EGF_uc011cfu.1_Silent_p.S733S|EGF_uc011cfv.1_Silent_p.S775S|EGF_uc010imk.2_Silent_p.S4S	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	775	Extracellular (Potential).|EGF-like 5.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TGAAAGCCTCAGATGGGAAAA	0.428													G	110902085	A	G	110902085	2	3	94	1	0	0	0	0	0	0	0	1	4962	175	7	3		3	EGF	4	110902085	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	145468	110902085	80252191	893	60026											
ENPEP	2028	broad.mit.edu	37	chr4	111398197	111398197	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttatagaaccacctacacGgagaacggacaagtcaagta	8	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:111398197G>T	uc003iab.3	+	1	969	c.627G>T	c.(625-627)ACG>ACT	p.T209T		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	209	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CCACCTACACGGAGAACGGAC	0.468													T	111398197	G	T	111398197	2	4	94	1	0	0	0	0	0	0	0	1	5128	1103	39	5		5	ENPEP	4	111398197	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	496112	111398197	79756079	894	60027											
ALPK1	80216	broad.mit.edu	37	chr4	113303616	113303616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaaatgaagtggcccttcGtgcctgaaaagtggcagtac	13	8	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:113303616G>A	uc003iap.3	+	4	463	c.184G>A	c.(184-186)GTG>ATG	p.V62M	ALPK1_uc003iam.2_Missense_Mutation_p.V62M|ALPK1_uc011cfw.1_RNA|ALPK1_uc003ian.3_Missense_Mutation_p.V62M|ALPK1_uc011cfx.1_Intron|ALPK1_uc003iao.3_RNA|ALPK1_uc003iaq.2_Missense_Mutation_p.V6M|ALPK1_uc010imo.2_Translation_Start_Site	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	62							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GTGGCCCTTCGTGCCTGAAAA	0.512													A	113303616	G	A	113303616	3	1	94	1	0	0	0	0	1	0	0	0	544	1145	40	1	190	1	ALPK1	4	113303616	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1905419	113303616	77850660	895	60028											
NEUROG2	63973	broad.mit.edu	37	chr4	113436101	113436101	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcccccggcaggcccccgccGccgcccccgcagtgatccgc	12	24	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:113436101G>C	uc003ias.2	-	2	858	c.531C>G	c.(529-531)GGC>GGG	p.G177G		NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN	neurogenin 2	177					positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			skin(2)|central_nervous_system(1)	3		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		ggcccccgccgccgcccccgc	0.557													C	113436101	G	C	113436101	2	2	94	1	0	0	0	0	0	0	0	1	10353	1074	38	5		5	NEUROG2	4	113436101	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	132485	113436101	77718175	896	60029											
C4orf21	55345	broad.mit.edu	37	chr4	113533738	113533738	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactactgtaataaatggtTtcctcactgtaatggagaaa	7	6	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:113533738T>C	uc003iau.2	-	7	2820	c.2609A>G	c.(2608-2610)AAA>AGA	p.K870R	C4orf21_uc003iaw.2_Missense_Mutation_p.K870R	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AATAAATGGTTTCCTCACTGT	0.289													C	113533738	T	C	113533738	3	2	94	1	0	0	0	0	1	0	0	0	2254	1841	64	3	3793	3	C4orf21	4	113533738	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	97637	113533738	77620538	897	60030											
NDST3	9348	broad.mit.edu	37	chr4	119154277	119154277	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaatagaaataactaccacAgggggattgattggtaagat	10	4	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:119154277A>C	uc003ibx.2	+	9	2333	c.1930A>C	c.(1930-1932)AGG>CGG	p.R644R	NDST3_uc011cgf.1_Intron	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	644	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						TAACTACCACAGGGGGATTGA	0.348													C	119154277	A	C	119154277	2	2	94	1	0	0	0	0	0	0	0	1	10257	179	7	5		5	NDST3	4	119154277	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	5620539	119154277	71999999	898	60031											
NDST3	9348	broad.mit.edu	37	chr4	119158200	119158200	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaatattccttttctaGgtatatggatttcttcccag	6	7	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:119158200G>T	uc003ibx.2	+	10	2347	c.1944_splice	c.e10-1	p.W648_splice	NDST3_uc011cgf.1_Splice_Site_p.V553_splice	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan							Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						TCCTTTTCTAGGTATATGGAT	0.368													T	119158200	G	T	119158200	5	4	94	1	0	0	0	0	0	0	1	0	10257	1014	35	5	1977	5	NDST3	4	119158200	Splice_Site	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3923	119158200	71996076	899	60032											
PRSS12	8492	broad.mit.edu	37	chr4	119216946	119216946	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catttaccttaaagaattttTcccaccaatgatccgcttct	3	12	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:119216946T>C	uc003ica.1	-	10	1950	c.1903A>G	c.(1903-1905)AAA>GAA	p.K635E		NM_003619	NP_003610	P56730	NETR_HUMAN	neurotrypsin precursor	635	Peptidase S1.					membrane	scavenger receptor activity			skin(1)	1						AAAGAATTTTTCCCACCAATG	0.353													C	119216946	T	C	119216946	3	2	94	1	0	0	0	0	1	0	0	0	12615	1792	62	3	740	3	PRSS12	4	119216946	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	58746	119216946	71937330	900	60033											
PDE5A	8654	broad.mit.edu	37	chr4	120422378	120422378	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaacttgcatacttgggaTtttgtttttcttctccctgt	6	11	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:120422378T>C	uc003idh.2	-	20	2592	c.2437A>G	c.(2437-2439)ATC>GTC	p.I813V	uc003ide.3_Intron|PDE5A_uc003idf.2_Missense_Mutation_p.I771V|PDE5A_uc003idg.2_Missense_Mutation_p.I761V	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	813	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	ATACTTGGGATTTTGTTTTTC	0.318													C	120422378	T	C	120422378	3	2	94	1	0	0	0	0	1	0	0	0	11644	1493	52	3	198	3	PDE5A	4	120422378	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1205432	120422378	70731898	901	60034											
BBS7	55212	broad.mit.edu	37	chr4	122749600	122749600	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttagccaaaagcaacTggtactccagctttgggtgg	10	10	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:122749600T>C	uc003ied.2	-	17	2021	c.1847A>G	c.(1846-1848)CAG>CGG	p.Q616R	BBS7_uc003iee.1_Missense_Mutation_p.Q616R	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	616					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1						CAAAAGCAACTGGTACTCCAG	0.363									Bardet-Biedl_syndrome				C	122749600	T	C	122749600	3	2	94	1	0	0	0	0	1	0	0	0	1341	1580	55	3	317	3	BBS7	4	122749600	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2327222	122749600	68404676	902	60035											
TRPC3	7222	broad.mit.edu	37	chr4	122853631	122853631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaaatagtcgtgcggcCgctcgatcctggcacccttc	11	14	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:122853631C>T	uc003ieg.2	-	2	856	c.782G>A	c.(781-783)CGG>CAG	p.R261Q	TRPC3_uc010inr.2_Missense_Mutation_p.R188Q|TRPC3_uc003ief.2_Missense_Mutation_p.R188Q|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	176	Cytoplasmic (Potential).|ANK 4.				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						GTCGTGCGGCCGCTCGATCCT	0.602													T	122853631	C	T	122853631	3	4	94	1	0	0	0	0	1	0	0	0	16576	652	23	1	2027	1	TRPC3	4	122853631	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	104031	122853631	68300645	903	60036											
BBS12	166379	broad.mit.edu	37	chr4	123664251	123664251	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggcaaatcacgtgttaCaggtgttaatccagttcaag	11	7	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:123664251C>T	uc003ieu.2	+	2	1397	c.1204C>T	c.(1204-1206)CAG>TAG	p.Q402*		NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	402					cellular protein metabolic process	cilium	ATP binding			ovary(2)	2						TCACGTGTTACAGGTGTTAAT	0.408									Bardet-Biedl_syndrome				T	123664251	C	T	123664251	4	4	94	1	0	0	0	0	0	1	0	0	1337	479	17	4	1206	4	BBS12	4	123664251	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	810620	123664251	67490025	904	60037											
PLK4	10733	broad.mit.edu	37	chr4	128807646	128807646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacattctcgataccttcGtagagcttattcctctgata	6	12	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:128807646G>A	uc003ifo.2	+	5	1366	c.1121G>A	c.(1120-1122)CGT>CAT	p.R374H	PLK4_uc011cgs.1_Missense_Mutation_p.R342H|PLK4_uc011cgt.1_Missense_Mutation_p.R333H	NM_014264	NP_055079	O00444	PLK4_HUMAN	polo-like kinase 4	374					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						CGATACCTTCGTAGAGCTTAT	0.398													A	128807646	G	A	128807646	3	1	94	1	0	0	0	0	1	0	0	0	12098	1145	40	1	1139	1	PLK4	4	128807646	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	5143395	128807646	62346630	905	60038											
PLK4	10733	broad.mit.edu	37	chr4	128815008	128815008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcatagtgctgcttctcCaacacaggcaccaatcctta	6	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:128815008C>T	uc003ifo.2	+	13	2779	c.2534C>T	c.(2533-2535)CCA>CTA	p.P845L	PLK4_uc011cgs.1_Missense_Mutation_p.P813L|PLK4_uc011cgt.1_Missense_Mutation_p.P804L	NM_014264	NP_055079	O00444	PLK4_HUMAN	polo-like kinase 4	845					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						GCTGCttctccaacacaggca	0.219													T	128815008	C	T	128815008	3	4	94	1	0	0	0	0	1	0	0	0	12098	594	21	4	2584	4	PLK4	4	128815008	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	7362	128815008	62339268	906	60039											
SCLT1	132320	broad.mit.edu	37	chr4	129964625	129964625	+	Splice_Site	DEL	A	A	-													acaagaggagctaaaaagctAaaaaaagacaataaaaatat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:129964624_129964624TA>T	uc003igp.2	-	4	668	c.162_splice	c.e4-1	p.S54_splice	SCLT1_uc003igq.2_Splice_Site_p.S54_splice|SCLT1_uc010iob.1_Splice_Site_p.S54_splice|SCLT1_uc003igr.2_Splice_Site_p.S54_splice|SCLT1_uc003igt.4_Splice_Site_p.S54_splice	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	54						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GCTAAAAAGCTAAAAAAAGAC	0.269													-	129964625	A	-	129964625	8	5	94	1	0	1	0	1	0	0	1	0	13906	377	13	0		0	SCLT1	4	129964625	Splice_Site	DEL	A	TCGA-BR-8487-01A-11D-2394-08	1149617	129964625	61189651	907	60040											
PCDH10	57575	broad.mit.edu	37	chr4	134071764	134071764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtgggcaccaactccttgCgcgactacgagatcaccccc	9	17	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:134071764C>T	uc003iha.2	+	1	1295	c.469C>T	c.(469-471)CGC>TGC	p.R157C	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R157C	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	157	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CAACTCCTTGCGCGACTACGA	0.622													T	134071764	C	T	134071764	3	4	94	1	0	0	0	0	1	0	0	0	11507	768	27	1	471	1	PCDH10	4	134071764	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4107139	134071764	57082512	908	60041											
NAA15	80155	broad.mit.edu	37	chr4	140281667	140281667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtataggaaggaacatcagCggtagagaatttgaatgaaa	12	3	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:140281667C>T	uc003ihu.1	+	13	1680	c.1424C>T	c.(1423-1425)GCG>GTG	p.A475V		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	NMDA receptor regulated 1	475					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2						GGAACATCAGCGGTAGAGAAT	0.328													T	140281667	C	T	140281667	3	4	94	1	0	0	0	0	1	0	0	0	10118	768	27	1	1474	1	NAA15	4	140281667	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	6209903	140281667	50872609	909	60042											
TBC1D9	23158	broad.mit.edu	37	chr4	141545515	141545515	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagccatcatctgcacccTgtttgcttctgctatccaat	5	14	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:141545515T>C	uc010ioj.2	-	19	3199	c.2927A>G	c.(2926-2928)CAG>CGG	p.Q976R		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	976						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ATCTGCACCCTGTTTGCTTCT	0.378													C	141545515	T	C	141545515	3	2	94	1	0	0	0	0	1	0	0	0	15624	1580	55	3	885	3	TBC1D9	4	141545515	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1263848	141545515	49608761	910	60043											
TBC1D9	23158	broad.mit.edu	37	chr4	141590886	141590886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatttaggttaaactggcGctctccatcagcatcagagc	9	12	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:141590886G>A	uc010ioj.2	-	8	1611	c.1339C>T	c.(1339-1341)CGC>TGC	p.R447C		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	447						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTAAACTGGCGCTCTCCATCA	0.557													A	141590886	G	A	141590886	3	1	94	1	0	0	0	0	1	0	0	0	15624	1087	38	1	2517	1	TBC1D9	4	141590886	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	45371	141590886	49563390	911	60044											
HHIP	64399	broad.mit.edu	37	chr4	145567956	145567957	+	Frame_Shift_Ins	INS	-	-	C													gaaggtgcctgaatgggaacINScccccgaagcgcctgaaaag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:145567955_145567956A>AC	uc003ijs.2	+	0	808_809	c.128_129A>AC	c.(127-129)aacfs	p.N43fs	LOC646576_uc003ijq.2_5'Flank|HHIP_uc003ijr.2_Frame_Shift_Ins_p.N43fs	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	43	Arg-rich.					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CTGAATGGGAACCCCCCGAAGC	0.589													C	145567957	-	C	145567956	7	5	94	1	0	1	1	0	0	0	0	0	7092	506	18	0	131	0	HHIP	4	145567956	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	3977070	145567956	45586320	912	60045											
HHIP	64399	broad.mit.edu	37	chr4	145659078	145659078	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcattgacatgacatcttActtgctggatctaacaagtt	7	8	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:145659078A>G	uc003ijs.1	+	13	2727	c.2072A>G	c.(2071-2073)TAC>TGC	p.Y691C		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	691						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		ATGACATCTTACTTGCTGGAT	0.358													G	145659078	A	G	145659078	3	3	94	1	0	0	0	0	1	0	0	0	7092	391	14	3	2122	3	HHIP	4	145659078	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	91122	145659078	45495198	913	60046											
ANAPC10	10393	broad.mit.edu	37	chr4	145916541	145916541	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcaccttattgaacgaTacatcatgaaatctatagtt	5	7	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:145916541T>A	uc003iju.3	-	6	697	c.542A>T	c.(541-543)TAT>TTT	p.Y181F	ANAPC10_uc003ijv.3_Missense_Mutation_p.Y181F|ANAPC10_uc003ijw.3_Missense_Mutation_p.Y181F	NM_014885	NP_055700	Q9UM13	APC10_HUMAN	anaphase promoting complex subunit 10	181	DOC.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin-protein ligase activity				0	all_hematologic(180;0.151)					TATTGAACGATACATCATGAA	0.303													A	145916541	T	A	145916541	3	1	94	1	0	0	0	0	1	0	0	0	599	1406	49	5	19	5	ANAPC10	4	145916541	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	257463	145916541	45237735	914	60047											
DCLK2	166614	broad.mit.edu	37	chr4	151000285	151000285	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcctccgggggcagcagcAgctcgggccccaaggggaac	16	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:151000285A>G	uc003ilm.3	+	1	206	c.106A>G	c.(106-108)AGC>GGC	p.S36G	DCLK2_uc003iln.3_Missense_Mutation_p.S36G|DCLK2_uc003ilo.3_Missense_Mutation_p.S36G|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	36					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					GGGCAGCAGCAGCTCGGGCCC	0.697													G	151000285	A	G	151000285	3	3	94	1	0	0	0	0	1	0	0	0	4292	188	7	3	108	3	DCLK2	4	151000285	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	5083744	151000285	40153991	915	60048											
PET112L	5188	broad.mit.edu	37	chr4	152622631	152622631	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcagagatgtggcgtcGtagagcaccaggggaggcag	20	8	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:152622631G>A	uc003iml.2	-	9	1059	c.1047C>T	c.(1045-1047)TAC>TAT	p.Y349Y		NM_004564	NP_004555	O75879	GATB_HUMAN	PET112-like precursor	349						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding				0	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)			L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ATGTGGCGTCGTAGAGCACCA	0.552													A	152622631	G	A	152622631	2	1	94	1	0	0	0	0	0	0	0	1	11734	1140	40	1		1	PET112L	4	152622631	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1622346	152622631	38531645	916	60049											
FBXW7	55294	broad.mit.edu	37	chr4	153249384	153249384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcatgaagatgcatacaaCgcacagtggaagtatgccca	9	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:153249384C>T	uc003ims.2	-	9	1543	c.1394G>A	c.(1393-1395)CGT>CAT	p.R465H	FBXW7_uc011cii.1_Missense_Mutation_p.R465H|FBXW7_uc003imt.2_Missense_Mutation_p.R465H|FBXW7_uc011cih.1_Missense_Mutation_p.R289H|FBXW7_uc003imq.2_Missense_Mutation_p.R385H|FBXW7_uc003imr.2_Missense_Mutation_p.R347H	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	465	WD 3.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in a acute lymphoblastic leukemia cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R465C(52)|p.R465H(36)|p.R465L(2)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGCATACAACGCACAGTGGA	0.408			Mis|N|D|F		colorectal|endometrial|T-ALL								T	153249384	C	T	153249384	3	4	94	1	0	0	0	0	1	0	0	0	5769	536	19	1	745	1	FBXW7	4	153249384	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	626753	153249384	37904892	917	60050											
KIAA0922	23240	broad.mit.edu	37	chr4	154512227	154512227	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaatgttttgggaacaactCgatttgctcacttgaagaaa	10	6	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:154512227C>T	uc003inm.3	+	17	1742	c.1690C>T	c.(1690-1692)CGA>TGA	p.R564*	KIAA0922_uc010ipp.2_Nonsense_Mutation_p.R565*|KIAA0922_uc010ipq.2_Intron	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	564	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				GGGAACAACTCGATTTGCTCA	0.303													T	154512227	C	T	154512227	4	4	94	1	0	0	0	0	0	1	0	0	8201	876	31	1	1759	1	KIAA0922	4	154512227	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1262843	154512227	36642049	918	60051											
KIAA0922	23240	broad.mit.edu	37	chr4	154553946	154553946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaactgcaccctggagaaCggcgtgccttgtgtgattca	11	10	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:154553946C>T	uc003inm.3	+	32	4333	c.4281C>T	c.(4279-4281)AAC>AAT	p.N1427N	KIAA0922_uc010ipp.2_Silent_p.N1428N|KIAA0922_uc010ipq.2_Silent_p.N1196N	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	1427	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				CCCTGGAGAACGGCGTGCCTT	0.537													T	154553946	C	T	154553946	2	4	94	1	0	0	0	0	0	0	0	1	8201	535	19	1		1	KIAA0922	4	154553946	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	41719	154553946	36600330	919	60052											
PLRG1	5356	broad.mit.edu	37	chr4	155467035	155467035	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcagaagccccaggatgtcGgtattcacttccactagggg	12	11	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:155467035G>T	uc003iny.2	-	6	508	c.445C>A	c.(445-447)CGA>AGA	p.R149R	PLRG1_uc003inz.2_Silent_p.R140R|PLRG1_uc011cil.1_5'UTR	NM_002669	NP_002660	O43660	PLRG1_HUMAN	pleiotropic regulator 1 (PRL1 homolog,	149						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity				0	all_hematologic(180;0.215)	Renal(120;0.0854)				CCAGGATGTCGGTATTCACTT	0.428													T	155467035	G	T	155467035	2	4	94	1	0	0	0	0	0	0	0	1	12106	1124	39	5		5	PLRG1	4	155467035	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	913089	155467035	35687241	920	60053											
LRAT	9227	broad.mit.edu	37	chr4	155665906	155665906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaacgaggaggtggcgcGgagggctgaaaagctgctgg	19	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:155665906G>A	uc003iom.1	+	1	755	c.428G>A	c.(427-429)CGG>CAG	p.R143Q	uc003iol.2_Intron|LRAT_uc003ion.1_Missense_Mutation_p.R143Q	NM_004744	NP_004735	O95237	LRAT_HUMAN	lecithin retinol acyltransferase	143	Cytoplasmic (By similarity).				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)	1	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GAGGTGGCGCGGAGGGCTGAA	0.582													A	155665906	G	A	155665906	3	1	94	1	0	0	0	0	1	0	0	0	8930	1116	39	1	430	1	LRAT	4	155665906	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	198871	155665906	35488370	921	60054											
GRIA2	2891	broad.mit.edu	37	chr4	158142933	158142933	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcgacaatttggaggtggCaaacagcttcgcagtcacta	10	10	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:158142933C>A	uc003ipm.3	+	2	662	c.203C>A	c.(202-204)GCA>GAA	p.A68E	GRIA2_uc011cit.1_Missense_Mutation_p.A21E|GRIA2_uc003ipl.3_Missense_Mutation_p.A68E|GRIA2_uc003ipk.3_Missense_Mutation_p.A21E|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	68	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TTGGAGGTGGCAAACAGCTTC	0.448													A	158142933	C	A	158142933	3	1	94	1	0	0	0	0	1	0	0	0	6768	710	25	5	209	5	GRIA2	4	158142933	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2477027	158142933	33011343	922	60055											
GRIA2	2891	broad.mit.edu	37	chr4	158257028	158257028	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttggagaacttgtatatgGggtaagtatagctcttctca	12	5	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:158257028G>T	uc003ipm.3	+	10	1931	c.1472G>T	c.(1471-1473)GGG>GTG	p.G491V	GRIA2_uc011cit.1_Missense_Mutation_p.G444V|GRIA2_uc003ipl.3_Missense_Mutation_p.G491V|GRIA2_uc003ipk.3_Missense_Mutation_p.G444V|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	491	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTTGTATATGGGGTAAGTATA	0.413													T	158257028	G	T	158257028	3	4	94	1	0	0	0	0	1	0	0	0	6768	1246	43	5	1510	5	GRIA2	4	158257028	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	114095	158257028	32897248	923	60056											
ANP32C	23520	broad.mit.edu	37	chr4	165118819	165118819	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttctttcacatcagagggCgccctgttccgcagctctga	10	13	4	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:165118819C>T	uc011cjk.1	-	1	45	c.45G>A	c.(43-45)GCG>GCA	p.A15A	MARCH1_uc003iqs.1_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	acidic nuclear phosphoprotein 32C	15											0	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		CATCAGAGGGCGCCCTGTTCC	0.502													T	165118819	C	T	165118819	2	4	94	1	0	0	0	0	0	0	0	1	707	755	27	1		1	ANP32C	4	165118819	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	6861791	165118819	26035457	924	60057											
TRIM60	166655	broad.mit.edu	37	chr4	165961350	165961350	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgctcctgcctcagtgtAtcctggaaggatctagatga	11	10	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:165961350A>G	uc003iqy.1	+	3	296	c.126A>G	c.(124-126)GTA>GTG	p.V42V	TRIM60_uc010iqx.1_Silent_p.V42V	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	ring finger protein 129	42	RING-type.					intracellular	zinc ion binding			skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GCCTCAGTGTATCCTGGAAGG	0.507													G	165961350	A	G	165961350	2	3	94	1	0	0	0	0	0	0	0	1	16532	436	16	3		3	TRIM60	4	165961350	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	842531	165961350	25192926	925	60058											
TRIM60	166655	broad.mit.edu	37	chr4	165962586	165962586	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttggccttatttctatacTggaacagattccgaacctct	7	10	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:165962586T>C	uc003iqy.1	+	3	1532	c.1362T>C	c.(1360-1362)ACT>ACC	p.T454T	TRIM60_uc010iqx.1_Silent_p.T454T	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	ring finger protein 129	454	B30.2/SPRY.					intracellular	zinc ion binding			skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		ATTTCTATACTGGAACAGATT	0.353													C	165962586	T	C	165962586	2	2	94	1	0	0	0	0	0	0	0	1	16532	1567	55	3		3	TRIM60	4	165962586	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1236	165962586	25191690	926	60059											
DDX60L	91351	broad.mit.edu	37	chr4	169312784	169312784	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctaaggcaagtgtttcagtAgctgtcactacctaggaaaa	9	9	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:169312784A>G	uc003irq.3	-	29	4043	c.3822T>C	c.(3820-3822)GCT>GCC	p.A1274A	DDX60L_uc003irr.1_Silent_p.A1275A	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1274	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GTGTTTCAGTAGCTGTCACTA	0.378													G	169312784	A	G	169312784	2	3	94	1	0	0	0	0	0	0	0	1	4379	407	15	3		3	DDX60L	4	169312784	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	3350198	169312784	21841492	927	60060											
SH3RF1	57630	broad.mit.edu	37	chr4	170038929	170038929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttgggaagcatttgtcaCcgccctgccaagacacaaac	9	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:170038929C>T	uc003isa.1	-	9	1857	c.1522G>A	c.(1522-1524)GTG>ATG	p.V508M	SH3RF1_uc010irc.1_Missense_Mutation_p.V208M	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	508	Interaction with AKT2 (By similarity).					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GCATTTGTCACCGCCCTGCCA	0.488													T	170038929	C	T	170038929	3	4	94	1	0	0	0	0	1	0	0	0	14258	507	18	4	1160	4	SH3RF1	4	170038929	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	726145	170038929	21115347	928	60061											
NEK1	4750	broad.mit.edu	37	chr4	170428902	170428902	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttgcgcctcatgtcagcCtcttcacttccttcttgtcc	5	15	5	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:170428902C>A	uc003isb.1	-	20	2283	c.1791G>T	c.(1789-1791)GAG>GAT	p.E597D	NEK1_uc003isc.1_Missense_Mutation_p.E553D|NEK1_uc003isd.1_Missense_Mutation_p.E625D|NEK1_uc003ise.1_Missense_Mutation_p.E581D|NEK1_uc003isf.1_Missense_Mutation_p.E528D	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	597					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(3)|ovary(2)|large_intestine(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCATGTCAGCCTCTTCACTTC	0.353													A	170428902	C	A	170428902	3	1	94	1	0	0	0	0	1	0	0	0	10321	680	24	5	2045	5	NEK1	4	170428902	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	389973	170428902	20725374	929	60062											
GALNT7	51809	broad.mit.edu	37	chr4	174216924	174216924	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttaaggttttgataTaccttgatgcccactgtgag	8	6	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:174216924T>C	uc003isz.3	+	5	978	c.895T>C	c.(895-897)TAC>CAC	p.Y299H	GALNT7_uc011ckb.1_Missense_Mutation_p.Y76H	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	299	Catalytic subdomain A.|Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)	1		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GGTTTTGATATACCTTGATGC	0.348													C	174216924	T	C	174216924	3	2	94	1	0	0	0	0	1	0	0	0	6218	1406	49	3	913	3	GALNT7	4	174216924	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	3788022	174216924	16937352	930	60063											
HMGB2	3148	broad.mit.edu	37	chr4	174254316	174254316	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtcatagcgagctttgTcactttttgccatatcttca	6	12	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:174254316T>C	uc011ckc.1	-	2	320	c.200A>G	c.(199-201)GAC>GGC	p.D67G	HMGB2_uc003ita.3_Missense_Mutation_p.D67G|HMGB2_uc003itb.2_Missense_Mutation_p.D67G|HMGB2_uc003itc.2_Missense_Mutation_p.D67G	NM_001130689	NP_001124161	P26583	HMGB2_HUMAN	high-mobility group box 2	67	HMG box 1.				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding				0		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GCGAGCTTTGTCACTTTTTGC	0.403													C	174254316	T	C	174254316	3	2	94	1	0	0	0	0	1	0	0	0	7226	1667	58	3	441	3	HMGB2	4	174254316	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	37392	174254316	16899960	931	60064											
KIAA1712	80817	broad.mit.edu	37	chr4	175224861	175224861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcctctgcagcttcttcGtgatcaatttaattataaac	5	9	3	1	rs146429616	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:175224861G>A	uc003itr.2	+	5	659	c.245G>A	c.(244-246)CGT>CAT	p.R82H	KIAA1712_uc010iro.2_Missense_Mutation_p.R82H|KIAA1712_uc003its.2_RNA	NM_001040157	NP_001035247	Q9C0F1	CEP44_HUMAN	HBV PreS1-transactivated protein 3 isoform a	82						centrosome|midbody|spindle pole					0		Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949)		CAGCTTCTTCGTGATCAATTT	0.338													A	175224861	G	A	175224861	3	1	94	1	0	0	0	0	1	0	0	0	8253	1145	40	1	255	1	KIAA1712	4	175224861	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	970545	175224861	15929415	932	60065											
WDR17	116966	broad.mit.edu	37	chr4	177058747	177058747	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcaaaagggcaaaattatAcaacgatttaatgaggtaag	9	4	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:177058747A>G	uc003iuj.2	+	10	1572	c.1416A>G	c.(1414-1416)ATA>ATG	p.I472M	WDR17_uc003iuk.2_Missense_Mutation_p.I448M|WDR17_uc003ium.3_Missense_Mutation_p.I448M|WDR17_uc003iul.1_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	472	WD 7.									ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		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;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GCAAAATTATACAACGATTTA	0.229													G	177058747	A	G	177058747	3	3	94	1	0	0	0	0	1	0	0	0	17274	381	14	3	1450	3	WDR17	4	177058747	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1833886	177058747	14095529	933	60066											
ASB5	140458	broad.mit.edu	37	chr4	177142697	177142697	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcacagcttggactgcCttgggagcatgcgttgaata	12	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:177142697C>A	uc003iuq.1	-	4	455	c.439G>T	c.(439-441)GGC>TGC	p.G147C	ASB5_uc003iup.1_Missense_Mutation_p.G94C	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box-containing protein	147	ANK 3.				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)		CTTGGACTGCCTTGGGAGCAT	0.473													A	177142697	C	A	177142697	3	1	94	1	0	0	0	0	1	0	0	0	1026	681	24	5	566	5	ASB5	4	177142697	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	83950	177142697	14011579	934	60067											
ODZ3	55714	broad.mit.edu	37	chr4	183676001	183676001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagatctagggaatatccGgatccgggctgtgtcaaaga	13	8	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:183676001G>A	uc003ivd.1	+	21	4518	c.4481G>A	c.(4480-4482)CGG>CAG	p.R1494Q	ODZ3_uc003ive.1_Missense_Mutation_p.R907Q	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1494	Extracellular (Potential).|NHL 5.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGGAATATCCGGATCCGGGCT	0.458													A	183676001	G	A	183676001	3	1	94	1	0	0	0	0	1	0	0	0	10836	1116	39	1	4563	1	ODZ3	4	183676001	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	6533304	183676001	7478275	935	60068											
ODZ3	55714	broad.mit.edu	37	chr4	183713688	183713688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatacagaaggcagactAggctctcagaaattttatat	7	7	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:183713688A>G	uc003ivd.1	+	25	5900	c.5863A>G	c.(5863-5865)AGG>GGG	p.R1955G		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1955	Extracellular (Potential).|YD 10.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AAGGCAGACTAGGCTCTCAGA	0.433													G	183713688	A	G	183713688	3	3	94	1	0	0	0	0	1	0	0	0	10836	411	15	3	5961	3	ODZ3	4	183713688	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	37687	183713688	7440588	936	60069											
ODZ3	55714	broad.mit.edu	37	chr4	183714662	183714662	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtattatgatctccaaggAcatctttttgccatggaaat	7	8	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:183714662A>G	uc003ivd.1	+	25	6874	c.6837A>G	c.(6835-6837)GGA>GGG	p.G2279G		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2279	Extracellular (Potential).|YD 23.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ATCTCCAAGGACATCTTTTTG	0.418													G	183714662	A	G	183714662	2	3	94	1	0	0	0	0	0	0	0	1	10836	262	10	3		3	ODZ3	4	183714662	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	974	183714662	7439614	937	60070											
DCTD	1635	broad.mit.edu	37	chr4	183836080	183836080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaaacttgccctaccgtaCgggtatttggtgtccagctt	9	10	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:183836080C>T	uc003ivf.2	-	3	414	c.240G>A	c.(238-240)CCG>CCA	p.P80P	DCTD_uc003ivg.2_Silent_p.P91P|DCTD_uc010irw.2_Intron|DCTD_uc003ivh.2_Intron	NM_001921	NP_001912	P32321	DCTD_HUMAN	dCMP deaminase isoform b	80					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding				0		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		CCCTACCGTACGGGTATTTGG	0.473													T	183836080	C	T	183836080	2	4	94	1	0	0	0	0	0	0	0	1	4305	523	19	1		1	DCTD	4	183836080	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	121418	183836080	7318196	938	60071											
CLDN22	53842	broad.mit.edu	37	chr4	184240790	184240790	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgcgtagtggcccgaagcTaggggagcgtggctggagca	18	9	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:184240790T>C	uc010isa.1	-	1	1138	c.582A>G	c.(580-582)CTA>CTG	p.L194L	WWC2_uc010irx.2_3'UTR|WWC2_uc003ivk.3_3'UTR|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_3'UTR|WWC2_uc003ivn.3_3'UTR|WWC2_uc010irz.2_3'UTR|WWC2_uc003ivo.3_3'UTR	NM_001111319	NP_001104789	Q8N7P3	CLD22_HUMAN	claudin 22	194	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GGCCCGAAGCTAGGGGAGCGT	0.547													C	184240790	T	C	184240790	2	2	94	1	0	0	0	0	0	0	0	1	3483	1509	53	3		3	CLDN22	4	184240790	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	404710	184240790	6913486	939	60072											
CDKN2AIP	55602	broad.mit.edu	37	chr4	184367702	184367702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcaaagcagctcagagatcGaggtgcccttgttgggctcc	12	12	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:184367702G>A	uc003ivp.1	+	3	1027	c.865G>A	c.(865-867)GAG>AAG	p.E289K	CDKN2AIP_uc003ivq.1_Missense_Mutation_p.E34K	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	289	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding				0		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CTCAGAGATCGAGGTGCCCTT	0.473													A	184367702	G	A	184367702	3	1	94	1	0	0	0	0	1	0	0	0	3162	1059	37	1	875	1	CDKN2AIP	4	184367702	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	126912	184367702	6786574	940	60073											
KIAA1430	57587	broad.mit.edu	37	chr4	186097046	186097046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattgtacttttgcttcccGgcttttccgcctgtcttgac	8	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:186097046G>A	uc003ixf.3	-	3	1361	c.1214C>T	c.(1213-1215)CCG>CTG	p.P405L	KIAA1430_uc003ixg.2_Missense_Mutation_p.P405L	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	hypothetical protein LOC57587	405	Potential.										0		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		TTTGCTTCCCGGCTTTTCCGC	0.453													A	186097046	G	A	186097046	3	1	94	1	0	0	0	0	1	0	0	0	8232	1116	39	1	396	1	KIAA1430	4	186097046	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1729344	186097046	5057230	941	60074											
SORBS2	8470	broad.mit.edu	37	chr4	186510856	186510856	+	Frame_Shift_Del	DEL	T	T	-													caaaccagccgtcatcacacTtttccatgacatcaatgaca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:186510856delT	uc003iyl.2	-	20	4076	c.3218delA	c.(3217-3219)AAGfs	p.K1073fs	SORBS2_uc003iyh.2_Frame_Shift_Del_p.K797fs|SORBS2_uc011ckw.1_Frame_Shift_Del_p.K634fs|SORBS2_uc003iyi.2_Frame_Shift_Del_p.K704fs|SORBS2_uc011ckx.1_Frame_Shift_Del_p.K639fs|SORBS2_uc003iyk.2_Frame_Shift_Del_p.K617fs|SORBS2_uc003iym.2_Frame_Shift_Del_p.K1173fs|SORBS2_uc003iyn.1_Frame_Shift_Del_p.K664fs|SORBS2_uc011cku.1_Frame_Shift_Del_p.K465fs|SORBS2_uc011ckv.1_Frame_Shift_Del_p.K977fs|SORBS2_uc003iyd.2_Frame_Shift_Del_p.K772fs|SORBS2_uc003iye.2_Frame_Shift_Del_p.K646fs|SORBS2_uc003iya.2_Frame_Shift_Del_p.K593fs|SORBS2_uc003iyb.2_Frame_Shift_Del_p.K546fs|SORBS2_uc003iyc.2_Frame_Shift_Del_p.K526fs|SORBS2_uc003iyg.2_Frame_Shift_Del_p.K1187fs|SORBS2_uc003iyf.2_Frame_Shift_Del_p.K609fs	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	1073	SH3 3.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GTCATCACACTTTTCCATGAC	0.463													-	186510856	T	-	186510856	7	5	94	1	0	1	0	1	0	0	0	0	14928	1609	56	0	92	0	SORBS2	4	186510856	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	413810	186510856	4643420	942	60075											
MTNR1A	4543	broad.mit.edu	37	chr4	187455571	187455571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatggagccgatgacgctcaGgcccatcaggaacccactga	11	13	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:187455571G>A	uc003izd.1	-	2	343	c.325C>T	c.(325-327)CTG>TTG	p.L109L		NM_005958	NP_005949	P48039	MTR1A_HUMAN	melatonin receptor 1A	109	Helical; Name=3; (Potential).				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	ATGACGCTCAGGCCCATCAGG	0.527													A	187455571	G	A	187455571	2	1	94	1	0	0	0	0	0	0	0	1	9951	991	35	4		4	MTNR1A	4	187455571	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	944715	187455571	3698705	943	60076											
FAT1	2195	broad.mit.edu	37	chr4	187541543	187541543	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctacaatgaccttcacgAcaacgtgggccactgcagaa	8	13	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:187541543A>G	uc003izf.2	-	10	6385	c.6197T>C	c.(6196-6198)GTC>GCC	p.V2066A		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2066	Extracellular (Potential).|Cadherin 18.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GACCTTCACGACAACGTGGGC	0.517										HNSCC(5;0.00058)			G	187541543	A	G	187541543	3	3	94	1	0	0	0	0	1	0	0	0	5689	275	10	3	7641	3	FAT1	4	187541543	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	85972	187541543	3612733	944	60077											
FAT1	2195	broad.mit.edu	37	chr4	187628340	187628340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctctcgatccagagggCgtgcgatgttaacaacaccc	11	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:187628340C>T	uc003izf.2	-	2	2830	c.2642G>A	c.(2641-2643)CGC>CAC	p.R881H	FAT1_uc010iso.1_Missense_Mutation_p.R881H	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	881	Extracellular (Potential).|Cadherin 7.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ATCCAGAGGGCGTGCGATGTT	0.512										HNSCC(5;0.00058)			T	187628340	C	T	187628340	3	4	94	1	0	0	0	0	1	0	0	0	5689	768	27	1	11228	1	FAT1	4	187628340	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	86797	187628340	3525936	945	60078											
FAT1	2195	broad.mit.edu	37	chr4	187630439	187630439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactgtagtaaaattccccGttggttcctatgtctgcatc	7	10	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:187630439G>A	uc003izf.2	-	2	731	c.543C>T	c.(541-543)AAC>AAT	p.N181N	FAT1_uc010iso.1_Silent_p.N181N	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	181	Extracellular (Potential).|Cadherin 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						AAAATTCCCCGTTGGTTCCTA	0.428										HNSCC(5;0.00058)			A	187630439	G	A	187630439	2	1	94	1	0	0	0	0	0	0	0	1	5689	1136	40	1		1	FAT1	4	187630439	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2099	187630439	3523837	946	60079											
TUBB4Q	56604	broad.mit.edu	37	chr4	190905597	190905597	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggggaaggacgggggtcgcAccgctggcctcgtggtggtg	22	9	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:190905597A>G	uc011clg.1	-	2	166	c.163_splice	c.e2+1	p.G55_splice		NM_020040	NP_064424	Q99867	TBB4Q_HUMAN	tubulin, beta polypeptide 4, member Q						'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)		CGGGGGTCGCACCGCTGGCCT	0.692													G	190905597	A	G	190905597	5	3	94	1	0	0	0	0	0	0	1	0	16756	173	6	3	1147	3	TUBB4Q	4	190905597	Splice_Site	SNP	A	TCGA-BR-8487-01A-11D-2394-08	3275158	190905597	248679	947	60080											
SLC12A7	10723	broad.mit.edu	37	chr5	1053568	1053568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccattgagcttcacagccGtgtgcatccgcctgacgttg	11	14	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:1053568G>A	uc003jbu.2	-	23	3122	c.3056C>T	c.(3055-3057)ACG>ATG	p.T1019M		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	1019	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CTTCACAGCCGTGTGCATCCG	0.657													A	1053568	G	A	1053568	3	1	94	1	0	0	0	0	1	0	0	0	14388	1145	40	1	203	1	SLC12A7	5	1053568	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08		1053568	179861692	948	60081											
SLC12A7	10723	broad.mit.edu	37	chr5	1081759	1081759	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgatgtcggtgagcacgtaGggcagtgcgctggcacggct	18	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:1081759G>T	uc003jbu.2	-	9	1296	c.1230C>A	c.(1228-1230)CCC>CCA	p.P410P		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	410					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TGAGCACGTAGGGCAGTGCGC	0.612													T	1081759	G	T	1081759	2	4	94	1	0	0	0	0	0	0	0	1	14388	987	35	5		5	SLC12A7	5	1081759	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	28191	1081759	179833501	949	60082											
CLPTM1L	81037	broad.mit.edu	37	chr5	1331941	1331942	+	In_Frame_Ins	INS	-	-	TCT													gtggacatgccgatcatgctINScttcttcttcttccagaaac					rs143530499	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:1331940_1331941C>CTCT	uc003jch.3	-	7	995_996	c.949_950G>AGAG	c.(949-951)agc>AGAGc	p.S317R	CLPTM1L_uc003jcg.3_In_Frame_Ins_p.S184R	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Homo sapiens CLPTM1-like (CLPTM1L), mRNA.	317					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GCCGATCATGCTCTTCTTCTTC	0.54													TCT	1331942	-	TCT	1331941	7	5	94	1	0	1	1	0	0	0	0	0	3555	1551	54	0	707	0	CLPTM1L	5	1331941	In_Frame_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	250182	1331941	179583319	950	60083											
LPCAT1	79888	broad.mit.edu	37	chr5	1467001	1467001	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtcctcttgcgctccgTacatctgcaaggcaaactgg	10	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:1467001T>C	uc003jcm.2	-	13	1400	c.1283A>G	c.(1282-1284)TAC>TGC	p.Y428C	LPCAT1_uc003jcl.2_Missense_Mutation_p.Y2C	NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	428	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TTGCGCTCCGTACATCTGCAA	0.662													C	1467001	T	C	1467001	3	2	94	1	0	0	0	0	1	0	0	0	8910	1638	57	3	329	3	LPCAT1	5	1467001	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	135060	1467001	179448259	951	60084											
LPCAT1	79888	broad.mit.edu	37	chr5	1477549	1477549	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccgcacgttgctggcaTacagcgcggggttcctcttc	12	15	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:1477549T>C	uc003jcm.2	-	9	986	c.869A>G	c.(868-870)TAT>TGT	p.Y290C		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	290	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GTTGCTGGCATACAGCGCGGG	0.567													C	1477549	T	C	1477549	3	2	94	1	0	0	0	0	1	0	0	0	8910	1406	49	3	759	3	LPCAT1	5	1477549	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	10548	1477549	179437711	952	60085											
LPCAT1	79888	broad.mit.edu	37	chr5	1501684	1501684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagcggcaaccaggagcCggaccgggaagagcgtcagt	17	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:1501684C>T	uc003jcm.2	-	2	287	c.170G>A	c.(169-171)CGG>CAG	p.R57Q		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	57	Cytoplasmic (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		AACCAGGAGCCGGACCGGGAA	0.662													T	1501684	C	T	1501684	3	4	94	1	0	0	0	0	1	0	0	0	8910	652	23	1	1486	1	LPCAT1	5	1501684	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	24135	1501684	179413576	953	60086											
NSUN2	54888	broad.mit.edu	37	chr5	6620235	6620236	+	Frame_Shift_Del	DEL	AT	AT	-													atacctgcaagggacatcacAtaaaattcgatcatagaaga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:6620235_6620236delAT	uc003jdu.2	-	7	863_864	c.798_799delAT	c.(796-801)TTATGTfs	p.L266fs	NSUN2_uc003jdt.2_Frame_Shift_Del_p.L30fs|NSUN2_uc011cmk.1_Frame_Shift_Del_p.L231fs|NSUN2_uc003jdv.2_Frame_Shift_Del_p.L30fs	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	266_267						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1						GGGACATCACATAAAATTCGAT	0.426													-	6620236	AT	-	6620235	7	5	94	1	0	1	0	1	0	0	0	0	10678	217	8	0	1556	0	NSUN2	5	6620235	Frame_Shift_Del	DEL	AT	TCGA-BR-8487-01A-11D-2394-08	5118551	6620235	174295025	954	60087											
SEMA5A	9037	broad.mit.edu	37	chr5	9197388	9197388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcgctcaggttgaagacGcacacagctgaggccgcaat	13	11	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:9197388G>A	uc003jek.2	-	10	1672	c.960C>T	c.(958-960)TGC>TGT	p.C320C		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	320	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						GGTTGAAGACGCACACAGCTG	0.622													A	9197388	G	A	9197388	2	1	94	1	0	0	0	0	0	0	0	1	14037	1079	38	1		1	SEMA5A	5	9197388	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2577153	9197388	171717872	955	60088											
DNAH5	1767	broad.mit.edu	37	chr5	13753574	13753574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgggctttcatttccttcCgccagtcatttaacagaaga	7	12	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:13753574C>T	uc003jfd.2	-	63	10682	c.10640G>A	c.(10639-10641)CGG>CAG	p.R3547Q	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3547					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)					CATTTCCTTCCGCCAGTCATT	0.388									Kartagener_syndrome				T	13753574	C	T	13753574	3	4	94	1	0	0	0	0	1	0	0	0	4604	652	23	1	3302	1	DNAH5	5	13753574	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4556186	13753574	167161686	956	60089											
TRIO	7204	broad.mit.edu	37	chr5	14291024	14291024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctagctaagaaggagctgcCtcaggatttagagggggctc	14	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:14291024C>T	uc003jff.2	+	5	746	c.740C>T	c.(739-741)CCT>CTT	p.P247L	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.P198L|TRIO_uc003jfh.1_5'Flank	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	247					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					AAGGAGCTGCCTCAGGATTTA	0.493													T	14291024	C	T	14291024	3	4	94	1	0	0	0	0	1	0	0	0	16549	681	24	4	758	4	TRIO	5	14291024	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	537450	14291024	166624236	957	60090											
CDH18	1016	broad.mit.edu	37	chr5	19473809	19473809	+	Frame_Shift_Del	DEL	A	A	-													ttgctgcgcctcagggtgatAaaaagtaccacaattgctga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:19473809delA	uc003jgc.2	-	12	2276	c.1899delT	c.(1897-1899)TTTfs	p.F633fs	CDH18_uc003jgd.2_Frame_Shift_Del_p.F633fs|CDH18_uc011cnm.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	633	Helical; (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCAGGGTGATAAAAAGTACCA	0.413													-	19473809	A	-	19473809	7	5	94	1	0	1	0	1	0	0	0	0	3103	359	13	0	477	0	CDH18	5	19473809	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	5182785	19473809	161441451	958	60091											
CDH12	1010	broad.mit.edu	37	chr5	21802400	21802400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaccggtggctcatctaCgtccagcacgctgatcttca	9	13	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:21802400C>T	uc010iuc.2	-	7	1590	c.1132G>A	c.(1132-1134)GTA>ATA	p.V378I	CDH12_uc011cno.1_Missense_Mutation_p.V338I|CDH12_uc003jgk.2_Missense_Mutation_p.V378I	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	378	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						GGCTCATCTACGTCCAGCACG	0.537										HNSCC(59;0.17)			T	21802400	C	T	21802400	3	4	94	1	0	0	0	0	1	0	0	0	3098	536	19	1	1276	1	CDH12	5	21802400	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2328591	21802400	159112860	959	60092											
PRDM9	56979	broad.mit.edu	37	chr5	23522902	23522902	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcttggagtatggaatgagGcatctgatctgccgctgggt	16	7	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:23522902G>C	uc003jgo.2	+	8	972	c.790G>C	c.(790-792)GCA>CCA	p.A264P		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	264	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						ATGGAATGAGGCATCTGATCT	0.577										HNSCC(3;0.000094)			C	23522902	G	C	23522902	3	2	94	1	0	0	0	0	1	0	0	0	12463	1203	42	5	816	5	PRDM9	5	23522902	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1720502	23522902	157392358	960	60093											
PDZD2	23037	broad.mit.edu	37	chr5	31799657	31799658	+	Frame_Shift_Ins	INS	-	-	G													gactatggtgaaaagcgcagINSggggggcaagaagaggaaaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:31799656_31799657A>AG	uc003jhl.3	+	1	689_690	c.301_302A>AG	c.(301-303)aggfs	p.R101fs	PDZD2_uc003jhm.3_Frame_Shift_Ins_p.R101fs	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	101	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574													G	31799658	-	G	31799657	7	5	94	1	0	1	1	0	0	0	0	0	11701	1000	35	0	304	0	PDZD2	5	31799657	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	8276755	31799657	149115603	961	60094											
TARS	6897	broad.mit.edu	37	chr5	33456256	33456256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcattttatctttagatGtggccctttgatagatctct	6	8	3	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:33456256G>A	uc003jhy.2	+	8	1056	c.761G>A	c.(760-762)TGT>TAT	p.C254Y	TARS_uc011cob.1_Missense_Mutation_p.C242Y|TARS_uc010iup.1_Missense_Mutation_p.C195Y|TARS_uc011coc.1_Missense_Mutation_p.C275Y|TARS_uc003jhz.2_Missense_Mutation_p.C150Y|TARS_uc011cod.1_Missense_Mutation_p.C133Y	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	254					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)	ATCTTTAGATGTGGCCCTTTG	0.333													A	33456256	G	A	33456256	3	1	94	1	0	0	0	0	1	0	0	0	15556	1377	48	4	791	4	TARS	5	33456256	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1656599	33456256	147459004	962	60095											
RXFP3	51289	broad.mit.edu	37	chr5	33938173	33938173	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccccacgcggccgcggagcCggacctgctctactacccac	11	20	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:33938173C>A	uc003jic.1	+	1	1685	c.1328C>A	c.(1327-1329)CCG>CAG	p.P443Q		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	443	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						gccgcggAGCCGGACCTGCTC	0.572													A	33938173	C	A	33938173	3	1	94	1	0	0	0	0	1	0	0	0	13761	652	23	5	1330	5	RXFP3	5	33938173	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	481917	33938173	146977087	963	60096											
AMACR	23600	broad.mit.edu	37	chr5	34005900	34005900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatatcgtggccagctaaccGgcagaagcttcctgactggc	12	12	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:34005900G>A	uc003jig.2	-	2	434	c.352C>T	c.(352-354)CGG>TGG	p.R118W	AMACR_uc003jih.2_Missense_Mutation_p.R118W|AMACR_uc003jii.2_Missense_Mutation_p.R118W|AMACR_uc003jij.2_Missense_Mutation_p.R118W|AMACR_uc003jil.1_Missense_Mutation_p.R118W|AMACR_uc003jik.1_Missense_Mutation_p.R118W	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase isoform 1	118					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity				0						CCAGCTAACCGGCAGAAGCTT	0.438													A	34005900	G	A	34005900	3	1	94	1	0	0	0	0	1	0	0	0	562	1115	39	1	1142	1	AMACR	5	34005900	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	67727	34005900	146909360	964	60097											
C1QTNF3	114899	broad.mit.edu	37	chr5	34020736	34020736	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcaaaggtggagaagcgttgGtggtccccatggagagcgcc	17	9	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:34020736G>C	uc003jin.2	-	6	780	c.693C>G	c.(691-693)CAC>CAG	p.H231Q	C1QTNF3_uc003jim.2_Missense_Mutation_p.H111Q|C1QTNF3_uc003jio.2_Missense_Mutation_p.H304Q	NM_030945	NP_112207	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	231	C1q.					collagen					0	all_lung(31;0.0207)					AGAAGCGTTGGTGGTCCCCAT	0.483													C	34020736	G	C	34020736	3	2	94	1	0	0	0	0	1	0	0	0	1964	1252	44	5	51	5	C1QTNF3	5	34020736	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	14836	34020736	146894524	965	60098											
RAI14	26064	broad.mit.edu	37	chr5	34823970	34823970	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagaggatgtcacagctgaaTatatccataaagcagagcat	9	7	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:34823970T>C	uc003jir.2	+	15	2219	c.2023T>C	c.(2023-2025)TAT>CAT	p.Y675H	RAI14_uc010iur.2_Missense_Mutation_p.Y646H|RAI14_uc011coj.1_Missense_Mutation_p.Y675H|RAI14_uc003jis.2_Missense_Mutation_p.Y678H|RAI14_uc003jit.2_Missense_Mutation_p.Y675H|RAI14_uc011cok.1_Missense_Mutation_p.Y667H	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	675	Potential.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					CACAGCTGAATATATCCATAA	0.443													C	34823970	T	C	34823970	3	2	94	1	0	0	0	0	1	0	0	0	13008	1406	49	3	2142	3	RAI14	5	34823970	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	803234	34823970	146091290	966	60099											
PRLR	5618	broad.mit.edu	37	chr5	35086328	35086328	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccttccctgtggtaagtcAgtgaataattggtaggaagt	11	7	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:35086328A>G	uc003jjm.2	-	4	715	c.185T>C	c.(184-186)CTG>CCG	p.L62P	PRLR_uc003jjg.1_Missense_Mutation_p.L62P|PRLR_uc003jjh.1_Missense_Mutation_p.L62P|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Missense_Mutation_p.L62P|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Intron|PRLR_uc010iuw.1_5'UTR	NM_000949	NP_000940	P16471	PRLR_HUMAN	prolactin receptor precursor	62	Fibronectin type-III 1.|Extracellular (Potential).				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			ovary(2)|skin(1)	3	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTGGTAAGTCAGTGAATAATT	0.473													G	35086328	A	G	35086328	3	3	94	1	0	0	0	0	1	0	0	0	12531	188	7	3	1711	3	PRLR	5	35086328	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	262358	35086328	145828932	967	60100											
SLC1A3	6507	broad.mit.edu	37	chr5	36679799	36679800	+	Frame_Shift_Ins	INS	-	-	G													ggaagacatgggtgtgattgINSgggggcagcttgccatgtac							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:36679798_36679799T>TG	uc003jkj.4	+	6	1406_1407	c.930_931T>TG	c.(928-933)attgggfs	p.I310fs	SLC1A3_uc011cox.2_Frame_Shift_Ins_p.I203fs|SLC1A3_uc010iuy.3_Frame_Shift_Ins_p.I310fs	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGCT	0.52													G	36679800	-	G	36679799	7	5	94	1	0	1	1	0	0	0	0	0	14433	1348	47	0	970	0	SLC1A3	5	36679799	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1593471	36679799	144235461	968	60101											
C5orf42	65250	broad.mit.edu	37	chr5	37183564	37183564	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactagttagaaatggaatGtcagcatccctggaataagg	10	6	1	1	rs143084362	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:37183564G>A	uc011cpa.1	-	26	4950	c.4719C>T	c.(4717-4719)GAC>GAT	p.D1573D	C5orf42_uc011coy.1_Silent_p.D74D|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Silent_p.D648D|C5orf42_uc011cpb.1_Silent_p.D454D	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1573										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)			GAAATGGAATGTCAGCATCCC	0.318													A	37183564	G	A	37183564	2	1	94	1	0	0	0	0	0	0	0	1	2301	1368	48	4		4	C5orf42	5	37183564	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	503765	37183564	143731696	969	60102											
C5orf42	65250	broad.mit.edu	37	chr5	37183688	37183688	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctattacaggaagtgtatttTgtgataacttttcatgatct	7	5	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:37183688T>C	uc011cpa.1	-	26	4826	c.4595A>G	c.(4594-4596)CAA>CGA	p.Q1532R	C5orf42_uc011coy.1_Missense_Mutation_p.Q33R|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.Q607R|C5orf42_uc011cpb.1_Missense_Mutation_p.Q413R	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1532										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)			AAGTGTATTTTGTGATAACTT	0.303													C	37183688	T	C	37183688	3	2	94	1	0	0	0	0	1	0	0	0	2301	1812	63	3	5106	3	C5orf42	5	37183688	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	124	37183688	143731572	970	60103											
WDR70	55100	broad.mit.edu	37	chr5	37697794	37697794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctataaacaggctcatgactCgggcacagacacttcttgcg	9	12	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:37697794C>T	uc003jkv.2	+	11	1188	c.1130C>T	c.(1129-1131)TCG>TTG	p.S377L	WDR70_uc010iva.1_3'UTR	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70	377	WD 5.									ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTCATGACTCGGGCACAGAC	0.388													T	37697794	C	T	37697794	3	4	94	1	0	0	0	0	1	0	0	0	17318	893	31	1	1172	1	WDR70	5	37697794	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	514106	37697794	143217466	971	60104											
LIFR	3977	broad.mit.edu	37	chr5	38506647	38506647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcacgtgggcccaccaacGctgtcacccttcctggattc	9	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:38506647G>A	uc010ive.1	-	8	1411	c.1079C>T	c.(1078-1080)GCG>GTG	p.A360V	LIFR_uc003jli.2_Missense_Mutation_p.A360V	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	360	Fibronectin type-III 2.|Extracellular (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					GCCCACCAACGCTGTCACCCT	0.408			T	PLAG1	salivary adenoma								A	38506647	G	A	38506647	3	1	94	1	0	0	0	0	1	0	0	0	8780	1087	38	1	2266	1	LIFR	5	38506647	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	808853	38506647	142408613	972	60105											
FYB	2533	broad.mit.edu	37	chr5	39203040	39203040	+	Frame_Shift_Del	DEL	C	C	-													agacatcctctgtcgggttgCcccccgtgttatatttcgcc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:39203039_39203039GC>G	uc003jls.3	-	0	91	c.24_24GC>C	c.(22-24)ggcfs	p.G8fs	FYB_uc003jlt.3_Frame_Shift_Del_p.G8fs|FYB_uc003jlu.3_Frame_Shift_Del_p.G8fs|FYB_uc011cpl.2_Frame_Shift_Del_p.G18fs	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	8					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CTGTCGGGTTGCCCCCCGTGT	0.448													-	39203040	C	-	39203040	7	5	94	1	0	1	0	1	0	0	0	0	6124	739	26	0	2538	0	FYB	5	39203040	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	696393	39203040	141712220	973	60106											
C9	735	broad.mit.edu	37	chr5	39341309	39341309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtctctgcaggggggacGgggctcactttcacaatcat	12	11	5	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:39341309G>A	uc003jlv.3	-	4	504	c.415C>T	c.(415-417)CGT>TGT	p.R139C		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	139	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CAGGGGGGACGGGGCTCACTT	0.463													A	39341309	G	A	39341309	3	1	94	1	0	0	0	0	1	0	0	0	2443	1116	39	1	1296	1	C9	5	39341309	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	138269	39341309	141573951	974	60107											
HEATR7B2	133558	broad.mit.edu	37	chr5	41009402	41009402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaattgcctcaaccctggCgatgtcatcttctaactcag	7	12	5	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:41009402C>T	uc003jmj.3	-	32	3890	c.3400G>A	c.(3400-3402)GCC>ACC	p.A1134T	HEATR7B2_uc003jmi.3_Missense_Mutation_p.A689T	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1134	HEAT 12.						binding			ovary(6)|central_nervous_system(2)	8						TCAACCCTGGCGATGTCATCT	0.502													T	41009402	C	T	41009402	3	4	94	1	0	0	0	0	1	0	0	0	7035	768	27	1	1401	1	HEATR7B2	5	41009402	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1668093	41009402	139905858	975	60108											
ZNF131	7690	broad.mit.edu	37	chr5	43174664	43174664	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtttatgcaaggaaatgAattaaggaggcatctcagtg	13	4	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:43174664A>G	uc011cpw.1	+	7	1337	c.1301A>G	c.(1300-1302)GAA>GGA	p.E434G	ZNF131_uc003jnj.3_Missense_Mutation_p.E155G|ZNF131_uc003jnk.2_Missense_Mutation_p.E400G|ZNF131_uc003jnn.3_Missense_Mutation_p.E155G|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	NM_003432	NP_003423	P52739	ZN131_HUMAN	zinc finger protein 131	434	C2H2-type 6.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CAAGGAAATGAATTAAGGAGG	0.393													G	43174664	A	G	43174664	3	3	94	1	0	0	0	0	1	0	0	0	17718	246	9	3	1225	3	ZNF131	5	43174664	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	2165262	43174664	137740596	976	60109											
C5orf34	375444	broad.mit.edu	37	chr5	43505850	43505850	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatagccattactgcattacCtgtgtaggtgtgggactgga	12	7	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:43505850C>A	uc003jnz.1	-	5	1249	c.932G>T	c.(931-933)AGG>ATG	p.R311M	C5orf34_uc011cpx.1_Missense_Mutation_p.R197M	NM_198566	NP_940968	Q96MH7	CE034_HUMAN	hypothetical protein LOC375444	311										breast(1)	1	Lung NSC(6;2.07e-05)					ACTGCATTACCTGTGTAGGTG	0.393													A	43505850	C	A	43505850	3	1	94	1	0	0	0	0	1	0	0	0	2293	695	24	5	1024	5	C5orf34	5	43505850	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	331186	43505850	137409410	977	60110											
HCN1	348980	broad.mit.edu	37	chr5	45262085	45262085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttaagactgaggaagAttctcttggaagagcagctg	13	5	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:45262085A>G	uc003jok.2	-	8	2636	c.2611T>C	c.(2611-2613)TCT>CCT	p.S871P		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	871	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						ACTGAGGAAGATTCTCTTGGA	0.527													G	45262085	A	G	45262085	3	3	94	1	0	0	0	0	1	0	0	0	6996	333	12	3	65	3	HCN1	5	45262085	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1756235	45262085	135653175	978	60111											
HCN1	348980	broad.mit.edu	37	chr5	45262174	45262174	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgacgacatctgtcggaagAgggtgacgcgctgcgggaca	16	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:45262174A>T	uc003jok.2	-	8	2547	c.2522T>A	c.(2521-2523)CTC>CAC	p.L841H		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	841	Cytoplasmic (Potential).			L -> F (in Ref. 2; AAC39759).		integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						CTGTCGGAAGAGGGTGACGCG	0.672													T	45262174	A	T	45262174	3	4	94	1	0	0	0	0	1	0	0	0	6996	304	11	5	154	5	HCN1	5	45262174	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	89	45262174	135653086	979	60112											
HCN1	348980	broad.mit.edu	37	chr5	45262506	45262506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgcggctgctgttgCatgagtgacagctgggaggc	17	9	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:45262506C>T	uc003jok.2	-	8	2215	c.2190G>A	c.(2188-2190)ATG>ATA	p.M730I		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	730	Gln-rich.|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						gctgctgttgcATGAGTGACA	0.458													T	45262506	C	T	45262506	3	4	94	1	0	0	0	0	1	0	0	0	6996	710	25	2	486	2	HCN1	5	45262506	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	332	45262506	135652754	980	60113											
PARP8	79668	broad.mit.edu	37	chr5	50090765	50090765	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggacggaatctccaaaacGcataagctgctgcggaggac	12	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:50090765G>C	uc003jon.3	+	13	1124	c.942G>C	c.(940-942)ACG>ACC	p.T314T	PARP8_uc011cpz.1_Silent_p.T206T|PARP8_uc003joo.2_Silent_p.T314T|PARP8_uc003jop.2_Silent_p.T314T	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	314						intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				TCTCCAAAACGCATAAGCTGC	0.483													C	50090765	G	C	50090765	2	2	94	1	0	0	0	0	0	0	0	1	11465	1074	38	5		5	PARP8	5	50090765	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4828259	50090765	130824495	981	60114											
FST	10468	broad.mit.edu	37	chr5	52779453	52779453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggaagggtccagtctgcGggctggatgggaaaacctac	15	10	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:52779453G>A	uc003jpd.2	+	3	424	c.397G>A	c.(397-399)GGG>AGG	p.G133R	FST_uc003jpc.2_Missense_Mutation_p.G133R	NM_013409	NP_037541	P19883	FST_HUMAN	follistatin isoform FST344 precursor	133	Kazal-like 1.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity				0		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				TCCAGTCTGCGGGCTGGATGG	0.517													A	52779453	G	A	52779453	3	1	94	1	0	0	0	0	1	0	0	0	6076	1116	39	1	407	1	FST	5	52779453	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2688688	52779453	128135807	982	60115											
SNX18	112574	broad.mit.edu	37	chr5	53815133	53815133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctcaaccacacggccaacGagttcgcgcgcaagcaggtg	12	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:53815133G>A	uc003jpj.3	+	1	1541	c.1351G>A	c.(1351-1353)GAG>AAG	p.E451K	SNX18_uc011cqg.1_Missense_Mutation_p.E451K|SNX18_uc003jpi.3_Missense_Mutation_p.E451K	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	sorting nexin 18 isoform b	451	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding				0		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CACGGCCAACGAGTTCGCGCG	0.607													A	53815133	G	A	53815133	3	1	94	1	0	0	0	0	1	0	0	0	14889	1059	37	1	1353	1	SNX18	5	53815133	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1035680	53815133	127100127	983	60116											
SLC38A9	153129	broad.mit.edu	37	chr5	54941671	54941671	+	Frame_Shift_Del	DEL	A	A	-													gtgatgatacaattatgaatAaaaaaagcaagggtaagcac							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:54941671delA	uc003jqf.2	-	12	1314	c.1113delT	c.(1111-1113)TTTfs	p.F371fs	SLC38A9_uc003jqd.2_Frame_Shift_Del_p.F308fs|SLC38A9_uc010ivx.2_Frame_Shift_Del_p.F308fs|SLC38A9_uc003jqe.2_RNA|SLC38A9_uc010ivy.2_Frame_Shift_Del_p.F242fs	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	371	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane					0		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				AATTATGAATAAAAAAAGCAA	0.313													-	54941671	A	-	54941671	7	5	94	1	0	1	0	1	0	0	0	0	14611	359	13	0	592	0	SLC38A9	5	54941671	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	1126538	54941671	125973589	984	60117											
IL31RA	133396	broad.mit.edu	37	chr5	55185844	55185844	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaggataaaaaccaaacgtAcaacctcacggggctgcagc	9	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:55185844A>G	uc003jql.2	+	6	718	c.653A>G	c.(652-654)TAC>TGC	p.Y218C	IL31RA_uc003jqk.2_Missense_Mutation_p.Y218C|IL31RA_uc011cqj.1_Missense_Mutation_p.Y76C|IL31RA_uc003jqm.2_Missense_Mutation_p.Y186C|IL31RA_uc003jqn.2_Missense_Mutation_p.Y218C|IL31RA_uc010iwa.1_Missense_Mutation_p.Y186C|IL31RA_uc003jqo.2_Missense_Mutation_p.Y76C	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	186	Extracellular (Potential).|Fibronectin type-III 2.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AACCAAACGTACAACCTCACG	0.453													G	55185844	A	G	55185844	3	3	94	1	0	0	0	0	1	0	0	0	7691	391	14	3	675	3	IL31RA	5	55185844	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	244173	55185844	125729416	985	60118											
ANKRD55	79722	broad.mit.edu	37	chr5	55455711	55455711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgactgttgcaacaggacCgtgaggagcctgtaaggaaa	13	8	0	1	rs138714495	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:55455711C>T	uc003jqu.2	-	6	584	c.432G>A	c.(430-432)ACG>ACA	p.T144T		NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	143	ANK 4.									skin(1)	1		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GCAACAGGACCGTGAGGAGCC	0.453													T	55455711	C	T	55455711	2	4	94	1	0	0	0	0	0	0	0	1	681	639	23	1		1	ANKRD55	5	55455711	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	269867	55455711	125459549	986	60119											
PLK2	10769	broad.mit.edu	37	chr5	57753397	57753397	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagagagataatttggggTaccacatatcgttctggaaa	12	5	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:57753397T>C	uc003jrn.2	-	6	854	c.727A>G	c.(727-729)ACC>GCC	p.T243A		NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	243	Protein kinase.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|lung(1)|skin(1)	4		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TAATTTGGGGTACCACATATC	0.408													C	57753397	T	C	57753397	3	2	94	1	0	0	0	0	1	0	0	0	12096	1638	57	3	1366	3	PLK2	5	57753397	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2297686	57753397	123161863	987	60120											
RAB3C	115827	broad.mit.edu	37	chr5	58147175	58147175	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcagcccaactgtgcctgCtagtgtccccgtgcacacag	10	17	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:58147175C>T	uc003jrp.2	+	5	778	c.681C>T	c.(679-681)TGC>TGT	p.C227C		NM_138453	NP_612462	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	227					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			ovary(1)|central_nervous_system(1)	2		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		ACTGTGCCTGCTAGTGTCCCC	0.502													T	58147175	C	T	58147175	2	4	94	1	0	0	0	0	0	0	0	1	12933	805	28	2		2	RAB3C	5	58147175	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	393778	58147175	122768085	988	60121											
DEPDC1B	55789	broad.mit.edu	37	chr5	59982907	59982907	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgtttgtttgcgggtcacttCagggccgaagttttgactgc	13	9	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:59982907C>T	uc003jsh.2	-	2	269	c.196G>A	c.(196-198)GAA>AAA	p.E66K	DEPDC1B_uc011cqm.1_Missense_Mutation_p.E66K|DEPDC1B_uc011cqn.1_Missense_Mutation_p.E39K	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	66	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CGGGTCACTTCAGGGCCGAAG	0.473													T	59982907	C	T	59982907	3	4	94	1	0	0	0	0	1	0	0	0	4440	835	29	4	1433	4	DEPDC1B	5	59982907	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1835732	59982907	120932353	989	60122											
C5orf43	643155	broad.mit.edu	37	chr5	60455971	60455971	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcccattccacaacatActcagcccaagcctttatat	4	15	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:60455971A>G	uc010iwm.1	-	3	455	c.28T>C	c.(28-30)TAT>CAT	p.Y10H	C5orf43_uc010iwl.1_RNA	NM_001048249	NP_001041714	Q7Z3B0	CE043_HUMAN	hypothetical protein LOC643155	10						integral to membrane					0						TCCACAACATACTCAGCCCAA	0.478													G	60455971	A	G	60455971	3	3	94	1	0	0	0	0	1	0	0	0	2302	391	14	3	200	3	C5orf43	5	60455971	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	473064	60455971	120459289	990	60123											
ADAMTS6	11174	broad.mit.edu	37	chr5	64520823	64520823	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccgtcccctccacagactcGacatctatcttccctagcat	4	18	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:64520823G>A	uc003jtp.2	-	17	2933	c.2119C>T	c.(2119-2121)CGA>TGA	p.R707*	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Nonsense_Mutation_p.R328*	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	707					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CCACAGACTCGACATCTATCT	0.453													A	64520823	G	A	64520823	4	1	94	1	0	0	0	0	0	1	0	0	270	1066	37	1	1270	1	ADAMTS6	5	64520823	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4064852	64520823	116394437	991	60124											
PPWD1	23398	broad.mit.edu	37	chr5	64865507	64865508	+	Frame_Shift_Ins	INS	-	-	A													atggacatgtcaagttctggINSaaaaaaatagaagagggaat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:64865507_64865508insA	uc003jtv.3	+	3	355_356	c.348_349insA	c.(346-351)TGGAAAfs	p.W116fs	PPWD1_uc011cqv.1_Frame_Shift_Ins_p.W86fs|PPWD1_uc011cqw.1_5'UTR	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat	116_117	WD 1.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TCAAGTTCTGGAAAAAAATAGA	0.317													A	64865508	-	A	64865507	7	5	94	1	0	1	1	0	0	0	0	0	12414	1183	41	0	358	0	PPWD1	5	64865507	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	344684	64865507	116049753	992	60125	274	2									
PPWD1	23398	broad.mit.edu	37	chr5	64865508	64865509	+	Frame_Shift_Ins	INS	-	-	A													tggacatgtcaagttctggaINSaaaaaatagaagagggaatt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:64865507_64865508G>GA	uc003jtv.4	+	2	355_356	c.348_349G>GA	c.(346-351)tggaaafs	p.W116fs	PPWD1_uc011cqv.2_Frame_Shift_Ins_p.W86fs|PPWD1_uc011cqw.2_5'UTR	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	Homo sapiens peptidylprolyl isomerase domain and WD repeat containing 1 (PPWD1), mRNA.	116					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TCAAGTTCTGGAAAAAAATAGA	0.317													A	64865509	-	A	64865508	7	5	94	1	0	1	1	0	0	0	0	0	12414	247	9	0	359	0	PPWD1	5	64865508	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	64865508	116049752	993	60126	274	2									
MAST4	375449	broad.mit.edu	37	chr5	66460174	66460174	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgcctgccagggaacccaGtccgacccacgggtgggcag	14	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:66460174G>T	uc003jut.1	+	28	4668	c.4600G>T	c.(4600-4602)GTC>TTC	p.V1534F	MAST4_uc003juw.2_Missense_Mutation_p.V1462F|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1726						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGGGAACCCAGTCCGACCCAC	0.592													T	66460174	G	T	66460174	3	4	94	1	0	0	0	0	1	0	0	0	9327	1029	36	5	5411	5	MAST4	5	66460174	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1594666	66460174	114455086	994	60127											
OCLN	4950	broad.mit.edu	37	chr5	68805476	68805476	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatcctgggcatcatggtgTttattgccacaattgtctat	8	9	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:68805476T>C	uc003jwu.2	+	3	995	c.559T>C	c.(559-561)TTT>CTT	p.F187L	OCLN_uc003jwv.3_Missense_Mutation_p.F187L	NM_002538	NP_002529			occludin												0		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CATCATGGTGTTTATTGCCAC	0.383													C	68805476	T	C	68805476	3	2	94	1	0	0	0	0	1	0	0	0	10820	1725	60	3	565	3	OCLN	5	68805476	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2345302	68805476	112109784	995	60128											
BDP1	55814	broad.mit.edu	37	chr5	70751890	70751890	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgatttcggtggagcggaGccccaagaaaaggctcctag	14	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:70751890G>A	uc003kbp.1	+	1	449	c.186G>A	c.(184-186)GAG>GAA	p.E62E	BDP1_uc003kbn.1_Silent_p.E62E|BDP1_uc003kbo.2_Silent_p.E62E	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	62	Interaction with ZBTB43.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GTGGAGCGGAGCCCCAAGAAA	0.602													A	70751890	G	A	70751890	2	1	94	1	0	0	0	0	0	0	0	1	1395	962	34	2		2	BDP1	5	70751890	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1946414	70751890	110163370	996	60129											
BDP1	55814	broad.mit.edu	37	chr5	70837318	70837319	+	Frame_Shift_Ins	INS	-	-	A													ctcatgttcattcaaaggatINSaaaagccatattccttctag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:70837318_70837319insA	uc003kbp.1	+	29	6323_6324	c.6060_6061insA	c.(6058-6063)GATAAAfs	p.D2020fs	BDP1_uc003kbo.2_Frame_Shift_Ins_p.D2020fs|BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	2020_2021					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATTCAAAGGATAAAAGCCATAT	0.297													A	70837319	-	A	70837318	7	5	94	1	0	1	1	0	0	0	0	0	1395	1403	49	0	6174	0	BDP1	5	70837318	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	85428	70837318	110077942	997	60130	275	2									
BDP1	55814	broad.mit.edu	37	chr5	70837319	70837320	+	Frame_Shift_Ins	INS	-	-	A													tcatgttcattcaaaggataINSaaagccatattccttctagc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:70837318_70837319T>TA	uc003kbp.1	+	28	6323_6324	c.6060_6061T>TA	c.(6058-6063)gataaafs	p.D2020fs	BDP1_uc003kbo.3_Frame_Shift_Ins_p.D2020fs|BDP1_uc003kbq.1_Non-coding_Transcript|BDP1_uc003kbr.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	2020					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATTCAAAGGATAAAAGCCATAT	0.297													A	70837320	-	A	70837319	7	5	94	1	0	1	1	0	0	0	0	0	1395	363	13	0	6175	0	BDP1	5	70837319	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	70837319	110077941	998	60131	275	2									
ZNF366	167465	broad.mit.edu	37	chr5	71740012	71740012	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccccgtctgactggaacacCggcaccttggcccggcgctt	11	17	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:71740012C>A	uc003kce.1	-	5	1992	c.1806G>T	c.(1804-1806)CCG>CCT	p.P602P		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		ACTGGAACACCGGCACCTTGG	0.647													A	71740012	C	A	71740012	2	1	94	1	0	0	0	0	0	0	0	1	17867	639	23	5		5	ZNF366	5	71740012	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	902693	71740012	109175248	999	60132											
ZNF366	167465	broad.mit.edu	37	chr5	71743139	71743139	+	Frame_Shift_Del	DEL	G	G	-													gcgtgtcaggttccccttcaGggtgaatttgcttgggcaat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:71743138_71743138AG>A	uc003kce.1	-	3	1817	c.1631_1631CT>T	c.(1630-1632)ctgfs	p.L544fs		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GTTCCCCTTCAGGGTGAATTT	0.532													-	71743139	G	-	71743139	7	5	94	1	0	1	0	1	0	0	0	0	17867	991	35	0	612	0	ZNF366	5	71743139	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	3127	71743139	109172121	1000	60133											
TNPO1	3842	broad.mit.edu	37	chr5	72171563	72171563	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacatgcataatatagttgAggtaacactggcaatttaaa	7	6	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:72171563A>C	uc003kck.3	+	8	947	c.800A>C	c.(799-801)GAG>GCG	p.E267A	TNPO1_uc011csi.1_RNA|TNPO1_uc011csj.1_Missense_Mutation_p.E217A|TNPO1_uc003kch.2_Missense_Mutation_p.E259A|TNPO1_uc003kci.3_Missense_Mutation_p.E259A|TNPO1_uc003kcg.3_Missense_Mutation_p.E259A	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	267					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AATATAGTTGAGGTAACACTG	0.413													C	72171563	A	C	72171563	3	2	94	1	0	0	0	0	1	0	0	0	16332	318	11	5	830	5	TNPO1	5	72171563	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	428424	72171563	108743697	1001	60134											
TNPO1	3842	broad.mit.edu	37	chr5	72201192	72201192	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcgtttctctgaccagttTcctcttcccttaaaagagcg	8	12	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:72201192T>C	uc003kck.3	+	24	2799	c.2652T>C	c.(2650-2652)TTT>TTC	p.F884F	TNPO1_uc011csj.1_Silent_p.F834F|TNPO1_uc003kch.2_Silent_p.F876F|TNPO1_uc003kci.3_Silent_p.F876F|TNPO1_uc003kcg.3_Silent_p.F876F	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	884					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CTGACCAGTTTCCTCTTCCCT	0.358													C	72201192	T	C	72201192	2	2	94	1	0	0	0	0	0	0	0	1	16332	1780	62	3		3	TNPO1	5	72201192	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	29629	72201192	108714068	1002	60135											
TMEM174	134288	broad.mit.edu	37	chr5	72469088	72469088	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaatggagcagggcagcggCcgcttggaggacttccctgt	16	11	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:72469088C>T	uc010izc.2	+	1	66	c.18C>T	c.(16-18)GGC>GGT	p.G6G		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	transmembrane protein 174	6						integral to membrane				ovary(1)	1		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		AGGGCAGCGGCCGCTTGGAGG	0.547													T	72469088	C	T	72469088	2	4	94	1	0	0	0	0	0	0	0	1	16087	726	26	2		2	TMEM174	5	72469088	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	267896	72469088	108446172	1003	60136											
HMGCR	3156	broad.mit.edu	37	chr5	74655258	74655258	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttggtagttcaaactgtatTactttaatggaagcaagtgg	11	4	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:74655258T>C	uc003kdp.2	+	18	2490	c.2334T>C	c.(2332-2334)ATT>ATC	p.I778I	HMGCR_uc011cst.1_Silent_p.I798I|HMGCR_uc003kdq.2_Silent_p.I725I|HMGCR_uc010izo.2_Intron|HMGCR_uc010izp.2_Intron	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	778	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CAAACTGTATTACTTTAATGG	0.388													C	74655258	T	C	74655258	2	2	94	1	0	0	0	0	0	0	0	1	7231	1742	61	3		3	HMGCR	5	74655258	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2186170	74655258	106260002	1004	60137											
POLK	51426	broad.mit.edu	37	chr5	74893608	74893609	+	Frame_Shift_Ins	INS	-	-	A													cagaaggctgtaacaagaacINSaaaaaggtatggctaatttg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:74893608_74893609insA	uc003kdw.2	+	14	2618_2619	c.2522_2523insA	c.(2521-2523)ACAfs	p.T841fs	POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Frame_Shift_Ins_p.T643fs|POLK_uc003kec.2_Frame_Shift_Ins_p.T751fs|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_3'UTR|POLK_uc003kee.2_3'UTR|POLK_uc003kef.2_Frame_Shift_Ins_p.T751fs	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	841					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GTAACAAGAACAAAAAGGTATG	0.233								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	74893609	-	A	74893608	7	5	94	1	0	1	1	0	0	0	0	0	12204	478	17	0	2572	0	POLK	5	74893608	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	238350	74893608	106021652	1005	60138	276	2									
POLK	51426	broad.mit.edu	37	chr5	74893609	74893610	+	Frame_Shift_Ins	INS	-	-	A													agaaggctgtaacaagaacaINSaaaaggtatggctaatttga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:74893608_74893609C>CA	uc003kdw.3	+	13	2618_2619	c.2522_2523C>CA	c.(2521-2523)acafs	p.T841fs	POLK_uc003kdx.3_Non-coding_Transcript|POLK_uc003kdy.3_Non-coding_Transcript|POLK_uc010izq.3_Frame_Shift_Ins_p.T643fs|POLK_uc003kec.3_Frame_Shift_Ins_p.T751fs|POLK_uc010izr.3_Non-coding_Transcript|POLK_uc010izs.3_Non-coding_Transcript|POLK_uc003ked.3_3'UTR|POLK_uc003kee.3_3'UTR	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	Homo sapiens polymerase (DNA directed) kappa (POLK), mRNA.	841					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GTAACAAGAACAAAAAGGTATG	0.248								DNA polymerases (catalytic subunits)					A	74893610	-	A	74893609	7	5	94	1	0	1	1	0	0	0	0	0	12204	117	5	0	2573	0	POLK	5	74893609	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	74893609	106021651	1006	60139	276	2									
F2RL2	2151	broad.mit.edu	37	chr5	75913673	75913673	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcgtatgcattaagtgtccGgatgatggctgcatagcagt	12	7	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:75913673G>T	uc003kem.2	-	2	1044	c.859C>A	c.(859-861)CGG>AGG	p.R287R	IQGAP2_uc003kek.2_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron|F2RL2_uc011csw.1_Silent_p.R265R	NM_004101	NP_004092	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	287	Cytoplasmic (Potential).				platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			skin(2)|ovary(1)	3		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		TTAAGTGTCCGGATGATGGCT	0.403													T	75913673	G	T	75913673	2	4	94	1	0	0	0	0	0	0	0	1	5345	1115	39	5		5	F2RL2	5	75913673	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1020064	75913673	105001587	1007	60140											
VCAN	1462	broad.mit.edu	37	chr5	82834774	82834774	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcacatcagtcacatatcTgactcagaaggacccagtag	8	11	5	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:82834774T>G	uc003kii.3	+	8	6308	c.5952T>G	c.(5950-5952)TCT>TCG	p.S1984S	VCAN_uc003kij.3_Silent_p.S997S|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.S648S	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1984	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GTCACATATCTGACTCAGAAG	0.502													G	82834774	T	G	82834774	2	3	94	1	0	0	0	0	0	0	0	1	17135	1567	55	5		5	VCAN	5	82834774	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	6921101	82834774	98080486	1008	60141											
EDIL3	10085	broad.mit.edu	37	chr5	83680139	83680139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttacctttgccgaactgGgggacaccgaggctgagccc	13	14	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:83680139G>A	uc003kio.1	-	1	473	c.54C>T	c.(52-54)CCC>CCT	p.P18P	EDIL3_uc003kip.1_Silent_p.P18P	NM_005711	NP_005702	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like	18					cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			skin(2)	2		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGCCGAACTGGGGGACACCGA	0.701													A	83680139	G	A	83680139	2	1	94	1	0	0	0	0	0	0	0	1	4915	1219	43	4		4	EDIL3	5	83680139	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	845365	83680139	97235121	1009	60142											
LYSMD3	116068	broad.mit.edu	37	chr5	89815219	89815219	+	Frame_Shift_Del	DEL	T	T	-													tttcggtcaaggaactgaacTtttttactggaattttgata							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:89815219delT	uc003kjr.2	-	3	486	c.338delA	c.(337-339)AAGfs	p.K113fs	LYSMD3_uc010jaz.1_Intron|LYSMD3_uc003kjs.1_Frame_Shift_Del_p.K93fs	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain	113	Extracellular (Potential).				cell wall macromolecule catabolic process	integral to membrane					0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		GGAACTGAACTTTTTTACTGG	0.393													-	89815219	T	-	89815219	7	5	94	1	0	1	0	1	0	0	0	0	9126	1609	56	0	586	0	LYSMD3	5	89815219	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	6135080	89815219	91100041	1010	60143											
POU5F2	134187	broad.mit.edu	37	chr5	93076928	93076928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgagatgtcctctggcggCggcaacttcggaatgctccg	13	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:93076928C>T	uc003kkl.1	-	1	382	c.342G>A	c.(340-342)CCG>CCA	p.P114P	FAM172A_uc010jbd.2_Intron|FAM172A_uc011cuf.1_Intron|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_Intron|FAM172A_uc011cuj.1_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	114						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CCTCTGGCGGCGGCAACTTCG	0.627													T	93076928	C	T	93076928	2	4	94	1	0	0	0	0	0	0	0	1	12283	755	27	1		1	POU5F2	5	93076928	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3261709	93076928	87838332	1011	60144											
FAM172A	83989	broad.mit.edu	37	chr5	93217235	93217235	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttacgatacttctcatagaAatcacgtcgcttctttgttt	6	9	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:93217235A>G	uc010jbd.2	-	7	934	c.727T>C	c.(727-729)TTC>CTC	p.F243L	FAM172A_uc011cuf.1_Missense_Mutation_p.F197L|FAM172A_uc011cug.1_Missense_Mutation_p.F133L|FAM172A_uc011cuh.1_Missense_Mutation_p.F96L|FAM172A_uc011cui.1_RNA|FAM172A_uc011cuj.1_Intron|FAM172A_uc003kkm.3_Missense_Mutation_p.F243L	NM_032042	NP_114431	Q8WUF8	F172A_HUMAN	hypothetical protein LOC83989 isoform 1	243						endoplasmic reticulum|extracellular region					0						TTCTCATAGAAATCACGTCGC	0.353													G	93217235	A	G	93217235	3	3	94	1	0	0	0	0	1	0	0	0	5492	14	1	3	543	3	FAM172A	5	93217235	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	140307	93217235	87698025	1012	60145											
MCTP1	79772	broad.mit.edu	37	chr5	94278101	94278101	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaggctgagcccataaagtCatcctgtagtccaaaatcat	7	10	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:94278101C>T	uc003kkx.2	-	4	1012	c.1012G>A	c.(1012-1014)GAC>AAC	p.D338N	MCTP1_uc003kkv.2_Missense_Mutation_p.D117N|MCTP1_uc003kkw.2_Missense_Mutation_p.D117N|MCTP1_uc003kkz.2_5'UTR	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	338	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CCCATAAAGTCATCCTGTAGT	0.353													T	94278101	C	T	94278101	3	4	94	1	0	0	0	0	1	0	0	0	9400	826	29	4	2067	4	MCTP1	5	94278101	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1060866	94278101	86637159	1013	60146											
RHOBTB3	22836	broad.mit.edu	37	chr5	95116060	95116060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagagtgtcctgattcccGtttatggtgtttccaaagag	10	8	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:95116060G>A	uc003klm.2	+	9	1924	c.1387G>A	c.(1387-1389)GTT>ATT	p.V463I		NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	463	BTB 2.|Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)|skin(1)	2		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		CCTGATTCCCGTTTATGGTGT	0.458													A	95116060	G	A	95116060	3	1	94	1	0	0	0	0	1	0	0	0	13335	1145	40	1	1421	1	RHOBTB3	5	95116060	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	837959	95116060	85799200	1014	60147											
PCSK1	5122	broad.mit.edu	37	chr5	95746544	95746544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggagcacttctcagcGtaccagggggataggccttg	16	9	1	0	rs145132329		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:95746544G>A	uc003kls.1	-	8	1235	c.1029C>T	c.(1027-1029)TAC>TAT	p.Y343Y	PCSK1_uc010jbi.1_Intron	NM_000439	NP_000430	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	343	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			ovary(2)	2		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACTTCTCAGCGTACCAGGGGG	0.527													A	95746544	G	A	95746544	2	1	94	1	0	0	0	0	0	0	0	1	11600	1140	40	1		1	PCSK1	5	95746544	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	630484	95746544	85168716	1015	60148											
PCSK1	5122	broad.mit.edu	37	chr5	95768714	95768714	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaaaagaggacgaaagcAgtgcactgcagactccaggc	13	11	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:95768714A>G	uc003kls.1	-	1	239	c.33T>C	c.(31-33)ACT>ACC	p.T11T		NM_000439	NP_000430	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	11					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			ovary(2)	2		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGACGAAAGCAGTGCACTGCA	0.527													G	95768714	A	G	95768714	2	3	94	1	0	0	0	0	0	0	0	1	11600	175	7	3		3	PCSK1	5	95768714	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	22170	95768714	85146546	1016	60149											
FAM174A	345757	broad.mit.edu	37	chr5	99871377	99871377	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtcttgggcctcctgaccCtagaccacggacattaccgc	10	15	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:99871377C>A	uc003knj.1	+	1	263	c.143C>A	c.(142-144)CCT>CAT	p.P48H	uc003kni.2_5'Flank	NM_198507	NP_940909	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	48	Pro-rich.|Extracellular (Potential).					integral to membrane					0						CCTCCTGACCCTAGACCACGG	0.716													A	99871377	C	A	99871377	3	1	94	1	0	0	0	0	1	0	0	0	5495	681	24	5	145	5	FAM174A	5	99871377	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4102663	99871377	81043883	1017	60150											
PAM	5066	broad.mit.edu	37	chr5	102249696	102249696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatgttactttttggatgCaatatgccttcatccactgg	7	10	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:102249696C>T	uc003knw.2	+	4	700	c.327C>T	c.(325-327)TGC>TGT	p.C109C	PAM_uc003kns.2_Silent_p.C109C|PAM_uc003knt.2_Silent_p.C109C|PAM_uc003knu.2_Silent_p.C109C|PAM_uc003knv.2_Silent_p.C109C|PAM_uc011cuz.1_Silent_p.C12C	NM_000919	NP_000910	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	109	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).|Intragranular (Potential).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding				0		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TTTTTGGATGCAATATGCCTT	0.383													T	102249696	C	T	102249696	2	4	94	1	0	0	0	0	0	0	0	1	11412	718	25	2		2	PAM	5	102249696	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2378319	102249696	78665564	1018	60151											
EPB41L4A	64097	broad.mit.edu	37	chr5	111600713	111600713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcataatctccaagctccGctaaaaaagaaagataacat	6	9	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:111600713G>A	uc003kpv.1	-	6	708	c.434C>T	c.(433-435)TCG>TTG	p.S145L	EPB41L4A_uc003kpw.1_Missense_Mutation_p.S145L	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	145	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TCCAAGCTCCGCTAAAAAAGA	0.318													A	111600713	G	A	111600713	3	1	94	1	0	0	0	0	1	0	0	0	5155	1101	38	1	1698	1	EPB41L4A	5	111600713	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	9351017	111600713	69314547	1019	60152											
APC	324	broad.mit.edu	37	chr5	112163629	112163629	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatttaatttacaggctAcgctatgctctatgaaaggc	8	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:112163629A>G	uc010jby.2	+	13	1932	c.1552A>G	c.(1552-1554)ACG>GCG	p.T518A	APC_uc011cvt.1_Missense_Mutation_p.T500A|APC_uc003kpz.3_Missense_Mutation_p.T518A|APC_uc003kpy.3_Missense_Mutation_p.T518A|APC_uc010jbz.2_Missense_Mutation_p.T235A|APC_uc010jca.2_Intron	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	518	ARM 2.|Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTTACAGGCTACGCTATGCTC	0.343		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			G	112163629	A	G	112163629	3	3	94	1	0	0	0	0	1	0	0	0	763	391	14	3	1598	3	APC	5	112163629	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	562916	112163629	68751631	1020	60153											
APC	324	broad.mit.edu	37	chr5	112164588	112164588	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggaatttgtcttggcgAgcagatgtaaatagtaaaaa	11	3	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:112164588A>C	uc010jby.2	+	14	2042	c.1662A>C	c.(1660-1662)CGA>CGC	p.R554R	APC_uc011cvt.1_Silent_p.R536R|APC_uc003kpz.3_Silent_p.R554R|APC_uc003kpy.3_Silent_p.R554R|APC_uc010jbz.2_Silent_p.R271R|APC_uc010jca.2_Intron	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	554	ARM 3.|Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.R554*(4)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGTCTTGGCGAGCAGATGTAA	0.303		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			C	112164588	A	C	112164588	2	2	94	1	0	0	0	0	0	0	0	1	763	291	11	5		5	APC	5	112164588	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	959	112164588	68750672	1021	60154											
SRP19	6728	broad.mit.edu	37	chr5	112227678	112227678	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagagagaaagttaaaggaAcaatggaaagaacagcagag	12	4	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:112227678A>G	uc011cvv.1	+	4	672	c.417A>G	c.(415-417)GAA>GAG	p.E139E	SRP19_uc011cvu.1_Silent_p.E124E|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron			P09132	SRP19_HUMAN	SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		agttaaaggaacaatggaaag	0.164													G	112227678	A	G	112227678	2	3	94	1	0	0	0	0	0	0	0	1	15153	58	2	3		3	SRP19	5	112227678	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	63090	112227678	68687582	1022	60155											
MCC	4163	broad.mit.edu	37	chr5	112399736	112399736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacgctgcagccggccaCggcaaaggctcccccacagc	11	19	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:112399736C>T	uc003kqj.3	-	12	2118	c.1588G>A	c.(1588-1590)GTG>ATG	p.V530M	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.V720M|MCC_uc011cwb.1_Missense_Mutation_p.V530M	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	530					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CAGCCGGCCACGGCAAAGGCT	0.627													T	112399736	C	T	112399736	3	4	94	1	0	0	0	0	1	0	0	0	9373	536	19	1	925	1	MCC	5	112399736	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	172058	112399736	68515524	1023	60156											
AQPEP	206338	broad.mit.edu	37	chr5	115319108	115319108	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccaagttatgtggcccttTccaacatgccaaagctaggt	8	11	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:115319108T>C	uc003kro.2	+	2	984	c.820T>C	c.(820-822)TCC>CCC	p.S274P	AQPEP_uc003krp.2_RNA	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	274	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						TGTGGCCCTTTCCAACATGCC	0.373													C	115319108	T	C	115319108	3	2	94	1	0	0	0	0	1	0	0	0	834	1783	62	3	826	3	AQPEP	5	115319108	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2919372	115319108	65596152	1024	60157											
SEMA6A	57556	broad.mit.edu	37	chr5	115818188	115818188	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgtccaggtggaatcaGgagacttctgttccttgaat	12	8	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:115818188G>T	uc010jck.2	-	11	1755	c.1046C>A	c.(1045-1047)CCT>CAT	p.P349H	SEMA6A_uc003krx.3_Missense_Mutation_p.P349H|SEMA6A_uc010jcj.2_5'Flank	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	349	Sema.|Extracellular (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGTGGAATCAGGAGACTTCTG	0.428													T	115818188	G	T	115818188	3	4	94	1	0	0	0	0	1	0	0	0	14039	1000	35	5	2082	5	SEMA6A	5	115818188	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	499080	115818188	65097072	1025	60158											
DMXL1	1657	broad.mit.edu	37	chr5	118480239	118480239	+	Frame_Shift_Del	DEL	A	A	-													atttatattcagcatggcagAaaaacccaactgcttcatgt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:118480238_118480238GA>G	uc010jcl.1	+	14	2655	c.2474_2474GA>G	c.(2473-2475)agafs	p.R825fs	DMXL1_uc003ksd.2_Frame_Shift_Del_p.R825fs|DMXL1_uc021ycw.1_Frame_Shift_Del_p.R652fs	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	825										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAGCATGGCAGAAAAACCCAA	0.313													-	118480239	A	-	118480239	7	5	94	1	0	1	0	1	0	0	0	0	4594	243	9	0	2533	0	DMXL1	5	118480239	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	2662051	118480239	62435021	1026	60159											
DMXL1	1657	broad.mit.edu	37	chr5	118485620	118485620	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatgaagctgaatctaaTcatgaacgccgccttaggtc	9	10	2	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:118485620T>A	uc003ksd.2	+	18	4279	c.4098T>A	c.(4096-4098)AAT>AAA	p.N1366K	DMXL1_uc010jcl.1_Missense_Mutation_p.N1366K	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1366										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CTGAATCTAATCATGAACGCC	0.468													A	118485620	T	A	118485620	3	1	94	1	0	0	0	0	1	0	0	0	4594	1432	50	5	4168	5	DMXL1	5	118485620	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	5381	118485620	62429640	1027	60160											
SRFBP1	153443	broad.mit.edu	37	chr5	121356130	121356131	+	Frame_Shift_Ins	INS	-	-	A													gaaaactctaagtcaaaccaINSaaaaaaacaaaggatctgat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:121356129_121356130C>CA	uc003kst.1	+	5	771_772	c.699_700C>CA	c.(697-702)accaaafs	p.T233fs		NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	Homo sapiens serum response factor binding protein 1 (SRFBP1), mRNA.	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TAAGTCAAACCAAAAAAAACAA	0.401													A	121356131	-	A	121356130	7	5	94	1	0	1	1	0	0	0	0	0	15143	131	5	0	722	0	SRFBP1	5	121356130	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	2870510	121356130	59559130	1028	60161											
CEP120	153241	broad.mit.edu	37	chr5	122714072	122714072	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctctcgcttctccaaGtcaattagagttttttgaag	8	9	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:122714072G>T	uc003ktk.2	-	16	2236	c.2154C>A	c.(2152-2154)GAC>GAA	p.D718E	CEP120_uc011cwq.1_Missense_Mutation_p.D527E|CEP120_uc010jcz.1_Missense_Mutation_p.D692E	NM_153223	NP_694955	Q8N960	CE120_HUMAN	coiled-coil domain containing 100	718	Potential.					centrosome				ovary(1)	1						GCTTCTCCAAGTCAATTAGAG	0.279													T	122714072	G	T	122714072	3	4	94	1	0	0	0	0	1	0	0	0	3246	1020	36	5	830	5	CEP120	5	122714072	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1357942	122714072	58201188	1029	60162											
CSNK1G3	1456	broad.mit.edu	37	chr5	122926163	122926163	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttttttgaaaaaccagacTatgactacttaagaaagctt	5	6	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:122926163T>C	uc003ktm.2	+	9	1620	c.901T>C	c.(901-903)TAT>CAT	p.Y301H	CSNK1G3_uc003ktl.2_Missense_Mutation_p.Y301H|CSNK1G3_uc003ktn.2_Missense_Mutation_p.Y301H|CSNK1G3_uc003kto.2_Missense_Mutation_p.Y301H|CSNK1G3_uc011cwr.1_Missense_Mutation_p.Y226H|CSNK1G3_uc011cws.1_Missense_Mutation_p.Y189H|CSNK1G3_uc010jda.2_Missense_Mutation_p.Y302H	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3 isoform 1	301	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AAAACCAGACTATGACTACTT	0.284													C	122926163	T	C	122926163	3	2	94	1	0	0	0	0	1	0	0	0	3956	1522	53	3	931	3	CSNK1G3	5	122926163	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	212091	122926163	57989097	1030	60163											
FBN2	2201	broad.mit.edu	37	chr5	127641256	127641256	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcggcacattcacagcggTaactaccaggactattgatg	10	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:127641256T>C	uc003kuu.2	-	44	6060	c.5621A>G	c.(5620-5622)TAC>TGC	p.Y1874C		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1874	EGF-like 30; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTCACAGCGGTAACTACCAGG	0.458													C	127641256	T	C	127641256	3	2	94	1	0	0	0	0	1	0	0	0	5703	1638	57	3	3205	3	FBN2	5	127641256	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	4715093	127641256	53274004	1031	60164											
FBN2	2201	broad.mit.edu	37	chr5	127668616	127668616	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactcaccaatacacttgaTgccgtttccaatccagcctt	4	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:127668616T>C	uc003kuu.2	-	32	4649	c.4210A>G	c.(4210-4212)ATC>GTC	p.I1404V	FBN2_uc003kuv.2_Missense_Mutation_p.I1371V	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1404	EGF-like 22; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATACACTTGATGCCGTTTCCA	0.413													C	127668616	T	C	127668616	3	2	94	1	0	0	0	0	1	0	0	0	5703	1464	51	3	4664	3	FBN2	5	127668616	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	27360	127668616	53246644	1032	60165											
ADAMTS19	171019	broad.mit.edu	37	chr5	129030453	129030454	+	Frame_Shift_Ins	INS	-	-	A													cctgcacaaaaatcatgagcINSaaaaatatcagcattgtgga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:129030453_129030454insA	uc003kvb.1	+	19	2841_2842	c.2841_2842insA	c.(2839-2844)AGCAAAfs	p.S947fs	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	947_948	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAATCATGAGCAAAAATATCAG	0.351													A	129030454	-	A	129030453	7	5	94	1	0	1	1	0	0	0	0	0	264	709	25	0	2915	0	ADAMTS19	5	129030453	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1361837	129030453	51884807	1033	60166	277	2									
ADAMTS19	171019	broad.mit.edu	37	chr5	129030454	129030455	+	Frame_Shift_Ins	INS	-	-	A													ctgcacaaaaatcatgagcaINSaaaatatcagcattgtggac							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:129030453_129030454C>CA	uc003kvb.1	+	18	2841_2842	c.2841_2842C>CA	c.(2839-2844)agcaaafs	p.S947fs	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	947	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAATCATGAGCAAAAATATCAG	0.351													A	129030455	-	A	129030454	7	5	94	1	0	1	1	0	0	0	0	0	264	131	5	0	2916	0	ADAMTS19	5	129030454	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	129030454	51884806	1034	60167	277	2									
CDC42SE2	56990	broad.mit.edu	37	chr5	130726771	130726771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagatgcagctcgtggataCgaaggcgggatagccctggt	15	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:130726771C>T	uc003kvh.2	+	5	854	c.242C>T	c.(241-243)ACG>ATG	p.T81M	CDC42SE2_uc003kvi.2_Missense_Mutation_p.T81M|CDC42SE2_uc003kvj.2_Missense_Mutation_p.T81M|CDC42SE2_uc003kvk.2_RNA|CDC42SE2_uc003kvl.2_Missense_Mutation_p.T81M	NM_020240	NP_064625	Q9NRR3	C42S2_HUMAN	CDC42 small effector 2	81					phagocytosis|regulation of cell shape|regulation of signal transduction	cell projection|cytoplasm|cytoskeleton|phagocytic cup	protein binding|structural molecule activity				0		all_cancers(142;0.0525)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCGTGGATACGAAGGCGGGA	0.493													T	130726771	C	T	130726771	3	4	94	1	0	0	0	0	1	0	0	0	3080	536	19	1	252	1	CDC42SE2	5	130726771	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1696317	130726771	50188489	1035	60168											
RAPGEF6	51735	broad.mit.edu	37	chr5	130782200	130782200	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatatgcaggctcccactGtaatgacatcatctggaact	7	12	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:130782200G>A	uc003kvn.1	-	22	3603	c.3397C>T	c.(3397-3399)CAG>TAG	p.Q1133*	RAPGEF6_uc003kvp.1_Nonsense_Mutation_p.Q1183*|RAPGEF6_uc003kvo.1_Nonsense_Mutation_p.Q1146*|RAPGEF6_uc010jdi.1_Nonsense_Mutation_p.Q1141*|RAPGEF6_uc010jdj.1_Nonsense_Mutation_p.Q1141*|RAPGEF6_uc003kvq.2_Nonsense_Mutation_p.Q858*|RAPGEF6_uc003kvr.2_Nonsense_Mutation_p.Q1133*|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc003kvm.1_Nonsense_Mutation_p.Q56*	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	1133					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GGCTCCCACTGTAATGACATC	0.398													A	130782200	G	A	130782200	4	1	94	1	0	0	0	0	0	1	0	0	13048	1386	48	4	1871	4	RAPGEF6	5	130782200	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	55429	130782200	50133060	1036	60169											
SLC22A5	6584	broad.mit.edu	37	chr5	131728210	131728210	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtctacgtgtacacagcCgagctgtatcccacagtggt	11	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:131728210C>T	uc003kww.3	+	8	1617	c.1353C>T	c.(1351-1353)GCC>GCT	p.A451A	SLC22A5_uc003kwx.3_Silent_p.A475A|SLC22A5_uc010jdr.1_Silent_p.A71A	NM_003060	NP_003051	O76082	S22A5_HUMAN	solute carrier family 22 member 5	451	Helical; Name=10; (Potential).				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity				0		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TGTACACAGCCGAGCTGTATC	0.532													T	131728210	C	T	131728210	2	4	94	1	0	0	0	0	0	0	0	1	14457	639	23	1		1	SLC22A5	5	131728210	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	946010	131728210	49187050	1037	60170											
RAD50	10111	broad.mit.edu	37	chr5	131931338	131931338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgaaaaccagtcatgttgCcccgtttgtcagagagtttt	10	9	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:131931338C>T	uc003kxi.2	+	13	2430	c.2043C>T	c.(2041-2043)TGC>TGT	p.C681C	RAD50_uc003kxh.2_Silent_p.C542C	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	681	Zinc-hook.	Zinc (By similarity).			DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTCATGTTGCCCCGTTTGTC	0.418								Homologous_recombination					T	131931338	C	T	131931338	2	4	94	1	0	0	0	0	0	0	0	1	12984	747	26	2		2	RAD50	5	131931338	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	203128	131931338	48983922	1038	60171											
RAD50	10111	broad.mit.edu	37	chr5	131939124	131939124	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgggtacaataatgccTgaagaagaaagtgccaaagt	10	7	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:131939124T>C	uc003kxi.2	+	14	2727	c.2340T>C	c.(2338-2340)CCT>CCC	p.P780P	RAD50_uc003kxh.2_Silent_p.P641P	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	780					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAATAATGCCTGAAGAAGAAA	0.373								Homologous_recombination					C	131939124	T	C	131939124	2	2	94	1	0	0	0	0	0	0	0	1	12984	1567	55	3		3	RAD50	5	131939124	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	7786	131939124	48976136	1039	60172											
CCNI2	645121	broad.mit.edu	37	chr5	132088655	132088655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacaactttgtgtcacctgCcaactagcccctctgcctcc	6	17	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:132088655C>T	uc003kxq.1	+	6	1154	c.1103C>T	c.(1102-1104)GCC>GTC	p.A368V	CCNI2_uc011cxg.1_Missense_Mutation_p.A384V|CCNI2_uc011cxh.1_Missense_Mutation_p.A369V|SEPT8_uc003kxr.2_Intron	NM_001039780	NP_001034869	Q6ZMN8	CCNI2_HUMAN	cyclin I family, member 2	368					regulation of cyclin-dependent protein kinase activity		protein kinase binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGTCACCTGCCAACTAGCCC	0.498													T	132088655	C	T	132088655	3	4	94	1	0	0	0	0	1	0	0	0	2927	739	26	2	1125	2	CCNI2	5	132088655	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	149531	132088655	48826605	1040	60173											
GDF9	2661	broad.mit.edu	37	chr5	132197346	132197346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggcaattgagccatcggGctcaatggtcaaaacactca	9	10	3	1	rs142443414		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:132197346G>A	uc003kxz.1	-	2	1552	c.1300C>T	c.(1300-1302)CCC>TCC	p.P434S	GDF9_uc011cxj.1_Missense_Mutation_p.P346S	NM_005260	NP_005251	O60383	GDF9_HUMAN	growth differentiation factor 9 precursor	434					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			skin(1)	1		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGCCATCGGGCTCAATGGTC	0.453													A	132197346	G	A	132197346	3	1	94	1	0	0	0	0	1	0	0	0	6319	1203	42	2	68	2	GDF9	5	132197346	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	108691	132197346	48717914	1041	60174											
TRPC7	57113	broad.mit.edu	37	chr5	135692515	135692515	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggccgctcgatgcgggcGcccttgagcagcaggatgtg	18	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:135692515G>A	uc003lbn.1	-	1	561	c.558C>T	c.(556-558)GGC>GGT	p.G186G	TRPC7_uc010jef.1_Silent_p.G178G|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.G178G|TRPC7_uc010jei.1_Silent_p.G178G|TRPC7_uc010jej.1_5'UTR	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	187	Cytoplasmic (Potential).|ANK 4.				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGATGCGGGCGCCCTTGAGCA	0.622													A	135692515	G	A	135692515	2	1	94	1	0	0	0	0	0	0	0	1	16581	1074	38	1		1	TRPC7	5	135692515	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3495169	135692515	45222745	1042	60175											
PKD2L2	27039	broad.mit.edu	37	chr5	137230252	137230252	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgttatggcaaatatactTctgcaaatgaagacctctct	6	8	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:137230252T>C	uc003lby.2	+	4	534	c.478T>C	c.(478-480)TCT>CCT	p.S160P	PKD2L2_uc010jep.1_Missense_Mutation_p.S100P|PKD2L2_uc003lbw.1_Missense_Mutation_p.S160P|PKD2L2_uc003lbx.2_Missense_Mutation_p.S160P	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	160	Extracellular (Potential).					integral to membrane	calcium ion binding|ion channel activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAAATATACTTCTGCAAATGA	0.338													C	137230252	T	C	137230252	3	2	94	1	0	0	0	0	1	0	0	0	11968	1783	62	3	492	3	PKD2L2	5	137230252	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1537737	137230252	43685008	1043	60176											
NME5	8382	broad.mit.edu	37	chr5	137464980	137464980	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtctccttcgctactaAgctattatttggtcccaaaa	6	10	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:137464980A>G	uc003lce.2	-	3	385	c.307T>C	c.(307-309)TTA>CTA	p.L103L	BRD8_uc003lcc.1_Intron	NM_003551	NP_003542	P56597	NDK5_HUMAN	non-metastatic cells 5, protein expressed in	103					anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTCGCTACTAAGCTATTATTT	0.393													G	137464980	A	G	137464980	2	3	94	1	0	0	0	0	0	0	0	1	10494	69	3	3		3	NME5	5	137464980	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	234728	137464980	43450280	1044	60177											
HSPA9	3313	broad.mit.edu	37	chr5	137903347	137903347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgacctcacctgtctctgCgagtcattgaaataagctgg	9	10	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:137903347C>T	uc003ldf.2	-	6	708	c.600G>A	c.(598-600)TCG>TCA	p.S200S	HSPA9_uc011cyw.1_Silent_p.S131S	NM_004134	NP_004125	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 precursor	200					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCTGTCTCTGCGAGTCATTGA	0.393													T	137903347	C	T	137903347	2	4	94	1	0	0	0	0	0	0	0	1	7417	755	27	1		1	HSPA9	5	137903347	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	438367	137903347	43011913	1045	60178											
MATR3	9782	broad.mit.edu	37	chr5	138643543	138643545	+	In_Frame_Del	DEL	AGG	AGG	-													aaatccttctacagcttaaaAggaggagaactgaagaaggc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:138643543_138643545delAGG	uc003ldu.2	+	5	866_868	c.439_441delAGG	c.(439-441)AGGdel	p.R149del	MATR3_uc003lds.2_In_Frame_Del_p.R149del|MATR3_uc010jfb.2_In_Frame_Del_p.R149del|MATR3_uc003ldt.2_Intron|MATR3_uc003ldw.2_In_Frame_Del_p.R149del|MATR3_uc003ldx.2_In_Frame_Del_p.R149del|MATR3_uc010jfc.2_In_Frame_Del_p.R149del|MATR3_uc003ldy.2_Intron|MATR3_uc011czb.1_Intron|MATR3_uc003ldz.2_In_Frame_Del_p.R149del|MATR3_uc003lea.2_In_Frame_Del_p.R149del	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	149						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACAGCTTAAAAGGAGGAGAACTG	0.463													-	138643545	AGG	-	138643543	7	5	94	1	0	1	0	1	0	0	0	0	9337	63	3	0	441	0	MATR3	5	138643543	In_Frame_Del	DEL	AGG	TCGA-BR-8487-01A-11D-2394-08	740196	138643543	42271717	1046	60179											
SLC23A1	9963	broad.mit.edu	37	chr5	138715727	138715727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaggaaggtgaggttgCgcaggtactgggagaagagg	20	5	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:138715727C>T	uc003leh.2	-	7	783	c.686G>A	c.(685-687)CGC>CAC	p.R229H	SLC23A1_uc003leg.2_Missense_Mutation_p.R233H	NM_005847	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (nucleobase	229					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	GGTGAGGTTGCGCAGGTACTG	0.602													T	138715727	C	T	138715727	3	4	94	1	0	0	0	0	1	0	0	0	14462	768	27	1	1142	1	SLC23A1	5	138715727	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	72184	138715727	42199533	1047	60180											
TMEM173	340061	broad.mit.edu	37	chr5	138857068	138857068	+	Frame_Shift_Del	DEL	G	G	-													atggcaaacaaagtctgcaaGggggtggcgtactccaggac							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:138857068delG	uc003lep.2	-	7	1043	c.792delC	c.(790-792)CCCfs	p.P264fs		NM_198282	NP_938023	Q86WV6	TM173_HUMAN	transmembrane protein 173	264	Cytoplasmic (Potential).				activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			upper_aerodigestive_tract(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGTCTGCAAGGGGGTGGCGT	0.572													-	138857068	G	-	138857068	7	5	94	1	0	1	0	1	0	0	0	0	16086	987	35	0	355	0	TMEM173	5	138857068	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	141341	138857068	42058192	1048	60181											
HBEGF	1839	broad.mit.edu	37	chr5	139715543	139715543	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggatggttgtgtggtcataGgtatataagcgattttccac	12	5	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:139715543G>T	uc003lfi.2	-	4	743	c.468C>A	c.(466-468)ACC>ACA	p.T156T	HBEGF_uc010jfj.2_RNA	NM_001945	NP_001936	Q99075	HBEGF_HUMAN	heparin-binding EGF-like growth factor	156	Extracellular (Potential).				epidermal growth factor receptor signaling pathway|muscle organ development|positive regulation of protein kinase B signaling cascade|positive regulation of wound healing	cell surface|extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|eukaryotic cell surface binding|growth factor activity|heparin binding|receptor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGTCATAGGTATATAAGC	0.532													T	139715543	G	T	139715543	2	4	94	1	0	0	0	0	0	0	0	1	6981	987	35	5		5	HBEGF	5	139715543	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	858475	139715543	41199717	1049	60182											
SLC4A9	83697	broad.mit.edu	37	chr5	139745425	139745425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctgtgtacaggacttaGgcctgatcaatgcatccttg	9	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:139745425G>A	uc003lfm.2	+	13	1824	c.1789G>A	c.(1789-1791)GGC>AGC	p.G597S	SLC4A9_uc003lfj.2_Missense_Mutation_p.G573S|SLC4A9_uc011czg.1_Intron|SLC4A9_uc003lfl.2_Missense_Mutation_p.G573S|SLC4A9_uc003lfk.2_Missense_Mutation_p.G559S	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	597	Extracellular (Potential).|Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGGACTTAGGCCTGATCAA	0.572													A	139745425	G	A	139745425	3	1	94	1	0	0	0	0	1	0	0	0	14660	1000	35	4	1767	4	SLC4A9	5	139745425	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	29882	139745425	41169835	1050	60183											
SLC4A9	83697	broad.mit.edu	37	chr5	139750733	139750733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtatatgggggtggcagcGctcagcagcattcaggtgag	16	8	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:139750733G>A	uc003lfm.2	+	18	2588	c.2553G>A	c.(2551-2553)GCG>GCA	p.A851A	SLC4A9_uc003lfj.2_Silent_p.A827A|SLC4A9_uc011czg.1_Silent_p.A764A|SLC4A9_uc003lfl.2_Silent_p.A827A|SLC4A9_uc003lfk.2_Silent_p.A813A	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	851	Helical; (Potential).|Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGCAGCGCTCAGCAGCA	0.363													A	139750733	G	A	139750733	2	1	94	1	0	0	0	0	0	0	0	1	14660	1074	38	1		1	SLC4A9	5	139750733	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	5308	139750733	41164527	1051	60184											
APBB3	10307	broad.mit.edu	37	chr5	139941704	139941704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcccttggagctccccaCgccccacacacggatgtgca	10	19	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:139941704C>T	uc003lgd.1	-	6	966	c.607G>A	c.(607-609)GTG>ATG	p.V203M	APBB3_uc003lgb.1_Translation_Start_Site|APBB3_uc003lgc.1_Translation_Start_Site|APBB3_uc003lge.1_Missense_Mutation_p.V203M|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_Intron|APBB3_uc011czi.1_Translation_Start_Site|APBB3_uc010jfq.1_5'Flank|SLC35A4_uc003lgg.1_5'Flank|SLC35A4_uc003lgh.1_5'Flank	NM_133172	NP_573418	O95704	APBB3_HUMAN	amyloid beta precursor protein-binding, family	203	PID 1.					actin cytoskeleton|cytoplasm				ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTCCCCACGCCCCACACA	0.602													T	139941704	C	T	139941704	3	4	94	1	0	0	0	0	1	0	0	0	762	536	19	1	902	1	APBB3	5	139941704	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	190971	139941704	40973556	1052	60185											
HARS2	23438	broad.mit.edu	37	chr5	140073551	140073551	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttagtcctcagcatatggTtgtgagggagaaaattcttg	11	6	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140073551T>C	uc003lgx.2	+	3	431	c.215T>C	c.(214-216)GTT>GCT	p.V72A	HARS_uc003lgv.2_5'Flank|HARS_uc011czm.1_5'Flank|HARS_uc003lgw.2_5'Flank|HARS_uc011czn.1_5'Flank|HARS_uc010jfu.2_5'Flank|HARS_uc011czo.1_5'Flank|HARS_uc011czp.1_5'Flank|HARS_uc011czq.1_5'Flank|HARS2_uc010jfv.1_Missense_Mutation_p.V2A|HARS2_uc011czr.1_Missense_Mutation_p.V47A|HARS2_uc011czs.1_Missense_Mutation_p.V2A|HARS2_uc011czt.1_Intron|HARS2_uc011czu.1_5'Flank	NM_012208	NP_036340	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2 precursor	72					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCATATGGTTGTGAGGGAG	0.423													C	140073551	T	C	140073551	3	2	94	1	0	0	0	0	1	0	0	0	6960	1725	60	3	225	3	HARS2	5	140073551	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	131847	140073551	40841709	1053	60186											
PCDHA1	56147	broad.mit.edu	37	chr5	140166895	140166895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaaggttttggtgaaagtGctggatgtaaatgataatgc	13	2	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140166895G>A	uc003lhb.2	+	1	1020	c.1020G>A	c.(1018-1020)GTG>GTA	p.V340V	PCDHA1_uc003lha.2_Silent_p.V340V|PCDHA1_uc003lgz.2_Silent_p.V340V	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	340	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGAAAGTGCTGGATGTAA	0.438													A	140166895	G	A	140166895	2	1	94	1	0	0	0	0	0	0	0	1	11519	1306	46	2		2	PCDHA1	5	140166895	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	93344	140166895	40748365	1054	60187											
PCDHA3	56145	broad.mit.edu	37	chr5	140182288	140182288	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacggcgggtgggggagcgCgcgctgtcgagctacgtgtc	20	10	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140182288C>T	uc003lhf.2	+	1	1506	c.1506C>T	c.(1504-1506)CGC>CGT	p.R502R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.R502R	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	502	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGGAGCGCGCGCTGTCGA	0.687													T	140182288	C	T	140182288	2	4	94	1	0	0	0	0	0	0	0	1	11525	755	27	1		1	PCDHA3	5	140182288	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	15393	140182288	40732972	1055	60188											
PCDHA7	56141	broad.mit.edu	37	chr5	140215836	140215836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgcgagcatcccgttccGcgtggggctgtacactggtg	16	12	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140215836G>A	uc003lhq.2	+	1	1868	c.1868G>A	c.(1867-1869)CGC>CAC	p.R623H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.R623H	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	623	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCCGTTCCGCGTGGGGCTG	0.632													A	140215836	G	A	140215836	3	1	94	1	0	0	0	0	1	0	0	0	11529	1087	38	1	1870	1	PCDHA7	5	140215836	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	33548	140215836	40699424	1056	60189											
PCDHAC2	56134	broad.mit.edu	37	chr5	140347507	140347507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccaacaccattgtggccGttctcagtgtcaatgaccaa	7	14	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140347507G>A	uc003lii.2	+	1	1396	c.1156G>A	c.(1156-1158)GTT>ATT	p.V386I	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.V386I	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	386	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTGTGGCCGTTCTCAGTGT	0.557													A	140347507	G	A	140347507	3	1	94	1	0	0	0	0	1	0	0	0	11533	1145	40	1	1158	1	PCDHAC2	5	140347507	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	131671	140347507	40567753	1057	60190											
PCDHB3	56132	broad.mit.edu	37	chr5	140481019	140481019	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccgttaactctgtcattgtCactgtctcggcttctgactt	7	13	5	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140481019C>T	uc003lio.2	+	1	786	c.786C>T	c.(784-786)GTC>GTT	p.V262V	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	262	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTCATTGTCACTGTCTCGG	0.403													T	140481019	C	T	140481019	2	4	94	1	0	0	0	0	0	0	0	1	11543	813	29	4		4	PCDHB3	5	140481019	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	133512	140481019	40434241	1058	60191											
PCDHB3	56132	broad.mit.edu	37	chr5	140482199	140482199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctccgcgctcggccaccGccacgctgcatgtgctcctg	11	19	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140482199G>A	uc003lio.2	+	1	1966	c.1966G>A	c.(1966-1968)GCC>ACC	p.A656T	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	656	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGCCACCGCCACGCTGCA	0.706													A	140482199	G	A	140482199	3	1	94	1	0	0	0	0	1	0	0	0	11543	1087	38	1	1968	1	PCDHB3	5	140482199	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1180	140482199	40433061	1059	60192											
PCDHB5	26167	broad.mit.edu	37	chr5	140515726	140515726	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgtcttggataataatgAcaacgcccccgaatttttac	7	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140515726A>G	uc003liq.2	+	1	927	c.710A>G	c.(709-711)GAC>GGC	p.D237G		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	237	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATAATAATGACAACGCCCCC	0.527													G	140515726	A	G	140515726	3	3	94	1	0	0	0	0	1	0	0	0	11545	275	10	3	712	3	PCDHB5	5	140515726	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	33527	140515726	40399534	1060	60193											
PCDHB16	57717	broad.mit.edu	37	chr5	140563826	140563826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcccttcgtgctgtacccGctgcagaacggctccgcgcc	11	18	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140563826G>A	uc003liv.2	+	1	2847	c.1692G>A	c.(1690-1692)CCG>CCA	p.P564P		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	564	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGTACCCGCTGCAGAACG	0.721													A	140563826	G	A	140563826	2	1	94	1	0	0	0	0	0	0	0	1	11541	1074	38	1		1	PCDHB16	5	140563826	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	48100	140563826	40351434	1061	60194											
PCDHB9	56127	broad.mit.edu	37	chr5	140568846	140568846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaatggcgagcctcctcGctcggccaccgccacgctgc	12	18	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140568846G>A	uc003liw.1	+	3	1955	c.1955G>A	c.(1954-1956)CGC>CAC	p.R652H		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	652	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCCTCCTCGCTCGGCCACC	0.711													A	140568846	G	A	140568846	3	1	94	1	0	0	0	0	1	0	0	0	11549	1087	38	1	1956	1	PCDHB9	5	140568846	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	5020	140568846	40346414	1062	60195											
PCDHB10	56126	broad.mit.edu	37	chr5	140573722	140573722	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttcgagttccgcgtgggcGccacagaccgcggctccccc	12	18	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140573722G>T	uc003lix.2	+	1	1771	c.1597G>T	c.(1597-1599)GCC>TCC	p.A533S		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	533	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCGTGGGCGCCACAGACCG	0.687													T	140573722	G	T	140573722	3	4	94	1	0	0	0	0	1	0	0	0	11535	1087	38	5	1599	5	PCDHB10	5	140573722	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4876	140573722	40341538	1063	60196											
PCDHB10	56126	broad.mit.edu	37	chr5	140574355	140574355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctggtggacgtgaggggcGctgagaccctgtcccagagc	16	11	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140574355G>A	uc003lix.2	+	1	2404	c.2230G>A	c.(2230-2232)GCT>ACT	p.A744T		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	744	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGAGGGGCGCTGAGACCCT	0.622													A	140574355	G	A	140574355	3	1	94	1	0	0	0	0	1	0	0	0	11535	1087	38	1	2232	1	PCDHB10	5	140574355	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	633	140574355	40340905	1064	60197											
PCDHB14	56122	broad.mit.edu	37	chr5	140604455	140604455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacctcctacaccctgttcGtccgcgagaacaacagcccc	6	18	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140604455G>A	uc003ljb.2	+	1	1378	c.1378G>A	c.(1378-1380)GTC>ATC	p.V460I	PCDHB14_uc011dal.1_Missense_Mutation_p.V307I	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	460	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCCTGTTCGTCCGCGAGAA	0.612													A	140604455	G	A	140604455	3	1	94	1	0	0	0	0	1	0	0	0	11539	1145	40	1	1380	1	PCDHB14	5	140604455	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	30100	140604455	40310805	1065	60198											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712134	140712134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacacgggcgaggtgcgcaCggcgcgagccctgctggaca	17	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140712134C>T	uc003lji.1	+	1	1883	c.1883C>T	c.(1882-1884)ACG>ATG	p.T628M	PCDHGA1_uc011dan.1_Missense_Mutation_p.T628M	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	628	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTGCGCACGGCGCGAGCC	0.697													T	140712134	C	T	140712134	3	4	94	1	0	0	0	0	1	0	0	0	11550	536	19	1	1885	1	PCDHGA1	5	140712134	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	107679	140712134	40203126	1066	60199											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720244	140720244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtaccctgccttccccaCagacggttccactggcgtgg	10	17	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140720244C>T	uc003ljk.1	+	1	1891	c.1706C>T	c.(1705-1707)ACA>ATA	p.T569I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.T569I	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	569	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTCCCCACAGACGGTTCC	0.637													T	140720244	C	T	140720244	3	4	94	1	0	0	0	0	1	0	0	0	11554	478	17	4	1708	4	PCDHGA2	5	140720244	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	8110	140720244	40195016	1067	60200											
PCDHGA3	56112	broad.mit.edu	37	chr5	140724590	140724590	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaccaggtcttctttcaagAgccaagattctagtcacggt	10	10	5	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140724590A>G	uc003ljm.1	+	1	990	c.990A>G	c.(988-990)AGA>AGG	p.R330R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.R90R|PCDHGA3_uc011dap.1_Silent_p.R330R	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	330	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTTTCAAGAGCCAAGATTC	0.413													G	140724590	A	G	140724590	2	3	94	1	0	0	0	0	0	0	0	1	11555	301	11	3		3	PCDHGA3	5	140724590	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	4346	140724590	40190670	1068	60201											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725787	140725787	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgctgcaggcttcgggAggcggcttggcgagtacgcc	17	13	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140725787A>G	uc003ljm.1	+	1	2187	c.2187A>G	c.(2185-2187)GGA>GGG	p.G729G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.G489G|PCDHGA3_uc011dap.1_Silent_p.G729G	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	729	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCTTCGGGAGGCGGCTTGG	0.682													G	140725787	A	G	140725787	2	3	94	1	0	0	0	0	0	0	0	1	11555	291	11	3		3	PCDHGA3	5	140725787	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1197	140725787	40189473	1069	60202											
PCDHGB1	56104	broad.mit.edu	37	chr5	140730922	140730922	+	Frame_Shift_Del	DEL	A	A	-													ggaactgtaatagccctcatAaaagtgcgagacaaggattc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140730922delA	uc003ljo.1	+	1	1095	c.1095delA	c.(1093-1095)ATAfs	p.I365fs	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Frame_Shift_Del_p.I365fs	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	365	Extracellular (Potential).|Cadherin 4.				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)			TAGCCCTCATAAAAGTGCGAG	0.418													-	140730922	A	-	140730922	7	5	94	1	0	1	0	1	0	0	0	0	11562	352	13	0	1097	0	PCDHGB1	5	140730922	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	5135	140730922	40184338	1070	60203											
PCDHGB1	56104	broad.mit.edu	37	chr5	140731931	140731931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcagtgctctttctcctcGcggtgattctagcgatcgcc	9	14	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140731931G>A	uc003ljo.1	+	1	2104	c.2104G>A	c.(2104-2106)GCG>ACG	p.A702T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA4_uc003ljq.1_5'Flank|PCDHGB1_uc011daq.1_Missense_Mutation_p.A702T|PCDHGA4_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	702	Helical; (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)			CTTTCTCCTCGCGGTGATTCT	0.622													A	140731931	G	A	140731931	3	1	94	1	0	0	0	0	1	0	0	0	11562	1087	38	1	2106	1	PCDHGB1	5	140731931	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1009	140731931	40183329	1071	60204											
PCDHGA5	56110	broad.mit.edu	37	chr5	140744704	140744704	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgctaaccgccacggatccAgatgagggaataaacgggaa	12	9	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140744704A>C	uc003lju.1	+	1	807	c.807A>C	c.(805-807)CCA>CCC	p.P269P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Silent_p.P269P	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	269	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACGGATCCAGATGAGGGAA	0.493													C	140744704	A	C	140744704	2	2	94	1	0	0	0	0	0	0	0	1	11557	175	7	5		5	PCDHGA5	5	140744704	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	12773	140744704	40170556	1072	60205											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773186	140773186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgtaacagccagcgaccCggatgagggaatcaacggaa	12	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140773186C>T	uc003lkd.1	+	1	1704	c.806C>T	c.(805-807)CCG>CTG	p.P269L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.P269L	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	269	Cadherin 3.|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)			GCCAGCGACCCGGATGAGGGA	0.458													T	140773186	C	T	140773186	3	4	94	1	0	0	0	0	1	0	0	0	11560	652	23	1	808	1	PCDHGA8	5	140773186	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	28482	140773186	40142074	1073	60206											
PCDHGB5	56101	broad.mit.edu	37	chr5	140779329	140779329	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcaaacgtgagcctgcgCgtgttggtgggcgaccgaaa	16	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140779329C>T	uc003lkf.1	+	1	1635	c.1635C>T	c.(1633-1635)CGC>CGT	p.R545R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.R545R	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	545	Extracellular (Potential).|Cadherin 5.				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)			TGAGCCTGCGCGTGTTGGTGG	0.682													T	140779329	C	T	140779329	2	4	94	1	0	0	0	0	0	0	0	1	11566	755	27	1		1	PCDHGB5	5	140779329	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	6143	140779329	40135931	1074	60207											
PCDHGB5	56101	broad.mit.edu	37	chr5	140779398	140779398	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgggtcccgacggctcTgcgctcttcgatatggtgcc	14	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140779398T>C	uc003lkf.1	+	1	1704	c.1704T>C	c.(1702-1704)TCT>TCC	p.S568S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.S568S	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	568	Cadherin 6.|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)			CCGACGGCTCTGCGCTCTTCG	0.677													C	140779398	T	C	140779398	2	2	94	1	0	0	0	0	0	0	0	1	11566	1567	55	3		3	PCDHGB5	5	140779398	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	69	140779398	40135862	1075	60208											
PCDHGA11	56105	broad.mit.edu	37	chr5	140801741	140801741	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaaaaatatagattctAtgagatggaaattcaaggcc	8	4	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140801741A>G	uc003lkq.1	+	1	1205	c.947A>G	c.(946-948)TAT>TGT	p.Y316C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.Y316C|PCDHGA11_uc003lkp.1_Missense_Mutation_p.Y316C	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	316	Extracellular (Potential).|Cadherin 3.				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)			TATAGATTCTATGAGATGGAA	0.413													G	140801741	A	G	140801741	3	3	94	1	0	0	0	0	1	0	0	0	11552	449	16	3	949	3	PCDHGA11	5	140801741	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	22343	140801741	40113519	1076	60209											
PCDHGC3	5098	broad.mit.edu	37	chr5	140856553	140856553	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagccacaaccgcgccggCgtgcggcaactattcgcctt	12	16	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140856553C>T	uc003lkv.1	+	1	985	c.870C>T	c.(868-870)GGC>GGT	p.G290G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Silent_p.G290G|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	290	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCGCCGGCGTGCGGCAAC	0.562													T	140856553	C	T	140856553	2	4	94	1	0	0	0	0	0	0	0	1	11569	755	27	1		1	PCDHGC3	5	140856553	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	54812	140856553	40058707	1077	60210											
DIAPH1	1729	broad.mit.edu	37	chr5	140960325	140960325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatacatgtcctctggctgCggtagaatacaaagagcaga	10	9	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140960325C>T	uc003llb.3	-	8	951	c.810G>A	c.(808-810)CCG>CCA	p.P270P	DIAPH1_uc003llc.3_Silent_p.P261P	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	270	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTGGCTGCGGTAGAATAC	0.423													T	140960325	C	T	140960325	2	4	94	1	0	0	0	0	0	0	0	1	4518	755	27	1		1	DIAPH1	5	140960325	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	103772	140960325	39954935	1078	60211											
FCHSD1	89848	broad.mit.edu	37	chr5	141028814	141028814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccatacagcttccgacttCggctcagctcccggacagac	9	17	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:141028814C>T	uc003llk.2	-	6	488	c.437G>A	c.(436-438)CGA>CAA	p.R146Q	FCHSD1_uc010jgg.2_5'Flank|FCHSD1_uc003llj.2_RNA	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	146	Potential.								FCHSD1/BRAF(2)	skin(2)|ovary(1)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCGACTTCGGCTCAGCTC	0.602													T	141028814	C	T	141028814	3	4	94	1	0	0	0	0	1	0	0	0	5789	884	31	1	1695	1	FCHSD1	5	141028814	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	68489	141028814	39886446	1079	60212											
ARAP3	64411	broad.mit.edu	37	chr5	141051820	141051820	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcggttactgcttcctgCagagcggccgcccagctctg	12	15	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:141051820C>T	uc003llm.2	-	10	1512	c.1434G>A	c.(1432-1434)CTG>CTA	p.L478L	ARAP3_uc011dbe.1_Silent_p.L140L|ARAP3_uc003lln.2_Silent_p.L400L|ARAP3_uc003llo.1_Silent_p.L478L	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	478	PH 2.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7						CTGCTTCCTGCAGAGCGGCCG	0.637													T	141051820	C	T	141051820	2	4	94	1	0	0	0	0	0	0	0	1	840	697	25	2		2	ARAP3	5	141051820	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	23006	141051820	39863440	1080	60213											
KIAA0141	9812	broad.mit.edu	37	chr5	141313826	141313826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtcctttattatcagttgGctgccagccagggccacagc	11	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:141313826G>A	uc003lls.2	+	9	1041	c.919G>A	c.(919-921)GCT>ACT	p.A307T	KIAA0141_uc003llt.2_Missense_Mutation_p.A307T|KIAA0141_uc003llu.1_RNA	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	hypothetical protein LOC9812 precursor	307	TPR 3.				apoptosis|regulation of caspase activity	mitochondrion	protein binding			skin(1)	1		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATCAGTTGGCTGCCAGCCA	0.542													A	141313826	G	A	141313826	3	1	94	1	0	0	0	0	1	0	0	0	8156	1203	42	2	953	2	KIAA0141	5	141313826	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	262006	141313826	39601434	1081	60214											
ARHGAP26	23092	broad.mit.edu	37	chr5	142437228	142437228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggagaaccaggagtctcGggtctctgaaatccacagcc	11	12	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:142437228G>A	uc011dbj.1	+	17	1489	c.1454G>A	c.(1453-1455)CGG>CAG	p.R485Q	ARHGAP26_uc003lmt.2_Missense_Mutation_p.R485Q|ARHGAP26_uc003lmw.2_Missense_Mutation_p.R485Q	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	GTPase regulator associated with the focal	485	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(1)	1		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGAGTCTCGGGTCTCTGAA	0.443													A	142437228	G	A	142437228	3	1	94	1	0	0	0	0	1	0	0	0	875	1116	39	1	1520	1	ARHGAP26	5	142437228	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1123402	142437228	38478032	1082	60215											
FBXO38	81545	broad.mit.edu	37	chr5	147807425	147807425	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccagcctgagagttgtgaCgtgcagtctaatgaagacta	11	9	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:147807425C>T	uc003lpf.1	+	15	2688	c.2568C>T	c.(2566-2568)GAC>GAT	p.D856D	FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	856						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGTTGTGACGTGCAGTCTA	0.582													T	147807425	C	T	147807425	2	4	94	1	0	0	0	0	0	0	0	1	5746	535	19	1		1	FBXO38	5	147807425	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	5370197	147807425	33107835	1083	60216											
FBXO38	81545	broad.mit.edu	37	chr5	147820078	147820078	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccctgggggagagaaatcTatactttagaaggtgagtat	12	6	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:147820078T>C	uc003lpf.1	+	20	3382	c.3262T>C	c.(3262-3264)TAT>CAT	p.Y1088H	FBXO38_uc003lpg.1_Missense_Mutation_p.Y1013H|FBXO38_uc003lph.2_Missense_Mutation_p.Y843H	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	1088						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAGAAATCTATACTTTAGA	0.284													C	147820078	T	C	147820078	3	2	94	1	0	0	0	0	1	0	0	0	5746	1522	53	3	3336	3	FBXO38	5	147820078	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	12653	147820078	33095182	1084	60217											
PPARGC1B	133522	broad.mit.edu	37	chr5	149225444	149225444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgagctacggagggctcCggcacttctgctggcccaga	14	13	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:149225444C>T	uc003lrc.2	+	11	2980	c.2938C>T	c.(2938-2940)CGG>TGG	p.R980W	PPARGC1B_uc003lrb.1_Missense_Mutation_p.R980W|PPARGC1B_uc003lrd.2_Missense_Mutation_p.R941W|PPARGC1B_uc003lrf.2_Missense_Mutation_p.R959W|PPARGC1B_uc003lre.1_Missense_Mutation_p.R959W	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	980					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CGGAGGGCTCCGGCACTTCTG	0.587													T	149225444	C	T	149225444	3	4	94	1	0	0	0	0	1	0	0	0	12301	643	23	1	2987	1	PPARGC1B	5	149225444	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1405366	149225444	31689816	1085	60218											
PDGFRB	5159	broad.mit.edu	37	chr5	149498370	149498370	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accagctgggagaaggggggCcgaatctcaaacttctcttc	12	11	2	1	rs55647240	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:149498370C>G	uc003lro.2	-	21	3313	c.2844G>C	c.(2842-2844)CGG>CGC	p.R948R	PDGFRB_uc010jhd.2_Silent_p.R787R	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	948	Cytoplasmic (Potential).|Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGAAGGGGGGCCGAATCTCAA	0.572			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								G	149498370	C	G	149498370	2	3	94	1	0	0	0	0	0	0	0	1	11662	726	26	5		5	PDGFRB	5	149498370	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	272926	149498370	31416890	1086	60219											
PDGFRB	5159	broad.mit.edu	37	chr5	149514495	149514495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagctgtgggtctgttactCggcatggaatggtgatctca	13	9	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:149514495C>T	uc003lro.2	-	4	918	c.449G>A	c.(448-450)CGA>CAA	p.R150Q	PDGFRB_uc010jhd.2_5'UTR|PDGFRB_uc011dcg.1_Missense_Mutation_p.R150Q	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	150	Extracellular (Potential).|Ig-like C2-type 2.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCTGTTACTCGGCATGGAAT	0.522			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								T	149514495	C	T	149514495	3	4	94	1	0	0	0	0	1	0	0	0	11662	884	31	1	2951	1	PDGFRB	5	149514495	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	16125	149514495	31400765	1087	60220											
TCOF1	6949	broad.mit.edu	37	chr5	149755683	149755683	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcctcagaccaaggcctgCccaaagaaaaccaataccac	5	15	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:149755683C>T	uc003lry.2	+	13	2040	c.1932C>T	c.(1930-1932)TGC>TGT	p.C644C	TCOF1_uc003lrw.2_Silent_p.C644C|TCOF1_uc011dch.1_Silent_p.C644C|TCOF1_uc003lrz.2_Silent_p.C644C|TCOF1_uc003lrx.2_Silent_p.C567C|TCOF1_uc003lsa.2_Silent_p.C567C|TCOF1_uc011dci.1_Silent_p.C133C	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	644					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAAGGCCTGCCCAAAGAAAA	0.562													T	149755683	C	T	149755683	2	4	94	1	0	0	0	0	0	0	0	1	15705	747	26	2		2	TCOF1	5	149755683	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	241188	149755683	31159577	1088	60221											
FAT2	2196	broad.mit.edu	37	chr5	150885144	150885144	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctagaacatgacctcctcAcagctgccataatcactctc	5	15	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:150885144A>G	uc003lue.3	-	23	13045	c.13032T>C	c.(13030-13032)TGT>TGC	p.C4344C	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Silent_p.C951C	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	4344	Cytoplasmic (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACCTCCTCACAGCTGCCAT	0.597													G	150885144	A	G	150885144	2	3	94	1	0	0	0	0	0	0	0	1	5690	157	6	3		3	FAT2	5	150885144	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1129461	150885144	30030116	1089	60222											
G3BP1	10146	broad.mit.edu	37	chr5	151179536	151179536	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagaacaacgaataaatatTcctccccaaaggggacccag	8	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:151179536T>C	uc003lun.2	+	9	1101	c.930T>C	c.(928-930)ATT>ATC	p.I310I	G3BP1_uc003lum.2_Silent_p.I310I|G3BP1_uc011dcu.1_Silent_p.I128I|G3BP1_uc010jhz.2_Silent_p.I128I|G3BP1_uc003luq.2_5'UTR	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	310					Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GAATAAATATTCCTCCCCAAA	0.468													C	151179536	T	C	151179536	2	2	94	1	0	0	0	0	0	0	0	1	6141	1771	62	3		3	G3BP1	5	151179536	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	294392	151179536	29735724	1090	60223											
LARP1	23367	broad.mit.edu	37	chr5	154135745	154135745	+	Frame_Shift_Del	DEL	C	C	-													gaccaccgtgaacggacagtCccccccaggtgggtctccct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:154135745delC	uc003lvp.2	+	1	857	c.428delC	c.(427-429)TCCfs	p.S143fs	LARP1_uc003lvo.2_Intron|LARP1_uc010jie.1_5'Flank	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	143							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AACGGACAGTCCCCCCCAGGT	0.642													-	154135745	C	-	154135745	7	5	94	1	0	1	0	1	0	0	0	0	8628	870	30	0		0	LARP1	5	154135745	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	2956209	154135745	26779515	1091	60224											
KIF4B	285643	broad.mit.edu	37	chr5	154394212	154394212	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagagggtattaatattaacCgaggcctcctatgcttggga	11	7	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:154394212C>A	uc010jih.1	+	1	953	c.793C>A	c.(793-795)CGA>AGA	p.R265R		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	265	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAATATTAACCGAGGCCTCCT	0.453													A	154394212	C	A	154394212	2	1	94	1	0	0	0	0	0	0	0	1	8304	644	23	5		5	KIF4B	5	154394212	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	258467	154394212	26521048	1092	60225											
HAVCR2	84868	broad.mit.edu	37	chr5	156535954	156535954	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacttgtaagtagtagcagcAgcagcagcaggacacagtca	11	9	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:156535954A>G	uc003lwk.1	-	1	185	c.41T>C	c.(40-42)CTG>CCG	p.L14P	HAVCR2_uc003lwl.2_Missense_Mutation_p.L14P	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	T cell immunoglobulin mucin 3 precursor	14						integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAGTAGCAGCAGCAGCAGCAG	0.299													G	156535954	A	G	156535954	3	3	94	1	0	0	0	0	1	0	0	0	6974	188	7	3	892	3	HAVCR2	5	156535954	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	2141742	156535954	24379306	1093	60226											
MED7	9443	broad.mit.edu	37	chr5	156566347	156566347	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttattggagggggaggcttGggagctaagccttcttgaat	15	5	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:156566347G>T	uc010jik.2	-	2	488	c.96C>A	c.(94-96)CCC>CCA	p.P32P	MED7_uc003lwm.3_Silent_p.P32P	NM_001100816	NP_001094286	O43513	MED7_HUMAN	mediator complex subunit 7	32					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity				0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGGAGGCTTGGGAGCTAAGC	0.448													T	156566347	G	T	156566347	2	4	94	1	0	0	0	0	0	0	0	1	9452	1335	47	5		5	MED7	5	156566347	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	30393	156566347	24348913	1094	60227											
CYFIP2	26999	broad.mit.edu	37	chr5	156816338	156816338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaccgcccaccaatggcGtcatgcacgtcgatgagtgt	11	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:156816338G>A	uc003lwq.2	+	31	3487	c.3349G>A	c.(3349-3351)GTC>ATC	p.V1117I	CYFIP2_uc011ddn.1_Missense_Mutation_p.V1091I|CYFIP2_uc011ddo.1_Missense_Mutation_p.V921I|CYFIP2_uc003lwr.2_Missense_Mutation_p.V1117I|CYFIP2_uc003lws.2_Missense_Mutation_p.V1117I|CYFIP2_uc003lwt.2_Missense_Mutation_p.V1020I|CYFIP2_uc011ddp.1_Missense_Mutation_p.V851I|CYFIP2_uc003lwv.2_Missense_Mutation_p.V72I	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1142					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACCAATGGCGTCATGCACGT	0.622													A	156816338	G	A	156816338	3	1	94	1	0	0	0	0	1	0	0	0	4138	1145	40	1	3459	1	CYFIP2	5	156816338	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	249991	156816338	24098922	1095	60228											
EBF1	1879	broad.mit.edu	37	chr5	158139180	158139180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggcatagggggagttggCagctgagccgttgaggaagg	19	6	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:158139180C>T	uc010jip.2	-	14	1833	c.1531G>A	c.(1531-1533)GCC>ACC	p.A511T	EBF1_uc011ddw.1_Missense_Mutation_p.A379T|EBF1_uc011ddx.1_Missense_Mutation_p.A512T|EBF1_uc003lxl.3_Missense_Mutation_p.A480T	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	511	Pro/Ser/Thr-rich.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGGAGTTGGCAGCTGAGCCG	0.567			T	HMGA2	lipoma								T	158139180	C	T	158139180	3	4	94	1	0	0	0	0	1	0	0	0	4880	710	25	2	256	2	EBF1	5	158139180	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1322842	158139180	22776080	1096	60229											
FABP6	2172	broad.mit.edu	37	chr5	159659202	159659202	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttggtcccagcactactcCgggggccacaccatgaccaa	9	16	0	1	rs147149907		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:159659202C>T	uc003lya.1	+	2	293	c.165C>T	c.(163-165)TCC>TCT	p.S55S	FABP6_uc003lxx.1_Silent_p.S104S|FABP6_uc003lxz.1_Silent_p.S104S	NM_001445	NP_001436	P51161	FABP6_HUMAN	gastrotropin isoform 2	55					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCACTACTCCGGGGGCCACA	0.562													T	159659202	C	T	159659202	2	4	94	1	0	0	0	0	0	0	0	1	5361	639	23	1		1	FABP6	5	159659202	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1520022	159659202	21256058	1097	60230											
GABRA1	2554	broad.mit.edu	37	chr5	161322768	161322768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctatggattggtttattgCcgtgtgctatgcctttgtgt	12	6	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:161322768C>T	uc010jiw.2	+	10	1421	c.953C>T	c.(952-954)GCC>GTC	p.A318V	GABRA1_uc010jix.2_Missense_Mutation_p.A318V|GABRA1_uc010jiy.2_Missense_Mutation_p.A318V|GABRA1_uc003lyx.3_Missense_Mutation_p.A318V|GABRA1_uc010jiz.2_Missense_Mutation_p.A318V|GABRA1_uc010jja.2_Missense_Mutation_p.A318V|GABRA1_uc010jjb.2_Missense_Mutation_p.A318V	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	318	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TGGTTTATTGCCGTGTGCTAT	0.453													T	161322768	C	T	161322768	3	4	94	1	0	0	0	0	1	0	0	0	6160	739	26	2	983	2	GABRA1	5	161322768	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1663566	161322768	19592492	1098	60231											
ODZ2	57451	broad.mit.edu	37	chr5	167553862	167553862	+	Frame_Shift_Del	DEL	C	C	-													tgtgaccagcgcgtgtgccaCccccgctgcattgagcacgg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:167553862delC	uc010jjd.2	+	12	2313	c.2313delC	c.(2311-2313)CACfs	p.H771fs	ODZ2_uc003lzr.3_Frame_Shift_Del_p.H539fs|ODZ2_uc003lzt.3_Frame_Shift_Del_p.H135fs|ODZ2_uc010jje.2_Frame_Shift_Del_p.H42fs|uc003lzs.1_Intron	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GCGTGTGCCACCCCCGCTGCA	0.612													-	167553862	C	-	167553862	7	5	94	1	0	1	0	1	0	0	0	0	10835	506	18	0	2359	0	ODZ2	5	167553862	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	6231094	167553862	13361398	1099	60232											
WWC1	23286	broad.mit.edu	37	chr5	167812369	167812369	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagcttgcacagcaggagtAccagcaactgcatgccgtct	12	12	1	0	rs138784388		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:167812369A>G	uc003lzu.2	+	3	476	c.383A>G	c.(382-384)TAC>TGC	p.Y128C	WWC1_uc003lzv.2_Missense_Mutation_p.Y128C|WWC1_uc011den.1_Missense_Mutation_p.Y128C	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	128	Potential.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CAGCAGGAGTACCAGCAACTG	0.587													G	167812369	A	G	167812369	3	3	94	1	0	0	0	0	1	0	0	0	17408	391	14	3	393	3	WWC1	5	167812369	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	258507	167812369	13102891	1100	60233											
FOXI1	2299	broad.mit.edu	37	chr5	169533034	169533034	+	Frame_Shift_Del	DEL	C	C	-													tccccagcatcggccaggagCcccccgagatgaacctctac							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:169533034delC	uc003mai.3	+	1	118	c.73delC	c.(73-75)CCCfs	p.P25fs	FOXI1_uc003maj.3_Frame_Shift_Del_p.P25fs	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	25	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGCCAGGAGCCCCCCGAGAT	0.697									Pendred_syndrome				-	169533034	C	-	169533034	7	5	94	1	0	1	0	1	0	0	0	0	6009	739	26	0	75	0	FOXI1	5	169533034	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	1720665	169533034	11382226	1101	60234											
STK10	6793	broad.mit.edu	37	chr5	171523526	171523526	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcagccaccagctcccgCagagccttgttactggtgat	10	15	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:171523526C>T	uc003mbo.1	-	8	1209	c.909G>A	c.(907-909)CTG>CTA	p.L303L		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	303							ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCAGCTCCCGCAGAGCCTTGT	0.622													T	171523526	C	T	171523526	2	4	94	1	0	0	0	0	0	0	0	1	15285	697	25	2		2	STK10	5	171523526	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1990492	171523526	9391734	1102	60235											
UBTD2	92181	broad.mit.edu	37	chr5	171661162	171661162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcaccatcaatgattgCttgtgccagttcatgatcat	8	9	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:171661162C>T	uc003mbp.1	-	2	397	c.271G>A	c.(271-273)GCA>ACA	p.A91T		NM_152277	NP_689490	Q8WUN7	UBTD2_HUMAN	dendritic cell-derived ubiquitin-like protein	91						cytoplasm					0	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCAATGATTGCTTGTGCCAGT	0.433													T	171661162	C	T	171661162	3	4	94	1	0	0	0	0	1	0	0	0	16905	797	28	2	441	2	UBTD2	5	171661162	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	137636	171661162	9254098	1103	60236											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171766334	171766334	+	Frame_Shift_Del	DEL	T	T	-													cacactccagccccatgtcaTttttcagctggaacagtctg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:171766334delT	uc003mbr.2	-	13	1946	c.1775delA	c.(1774-1776)AATfs	p.N592fs		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	592					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCCCATGTCATTTTTCAGCTG	0.557													-	171766334	T	-	171766334	7	5	94	1	0	1	0	1	0	0	0	0	14257	1493	52	0	964	0	SH3PXD2B	5	171766334	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	105172	171766334	9148926	1104	60237											
DUSP1	1843	broad.mit.edu	37	chr5	172196764	172196764	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgatacgcactgcccaGgtacagaaagggcaggattt	13	9	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:172196764G>A	uc003mbv.1	-	3	795	c.547C>T	c.(547-549)CTG>TTG	p.L183L	DUSP1_uc011dez.1_Silent_p.L41L|DUSP1_uc003mbu.1_Silent_p.L71L	NM_004417	NP_004408	P28562	DUS1_HUMAN	dual specificity phosphatase 1	183	Tyrosine-protein phosphatase.				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			breast(2)|ovary(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		GCACTGCCCAGGTACAGAAAG	0.532													A	172196764	G	A	172196764	2	1	94	1	0	0	0	0	0	0	0	1	4809	991	35	4		4	DUSP1	5	172196764	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	430430	172196764	8718496	1105	60238											
NKX2-5	1482	broad.mit.edu	37	chr5	172661785	172661785	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctagggtccttggctgggTcggggtcgctgtaggcacgt	17	10	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:172661785T>C	uc003mcm.1	-	1	478	c.302A>G	c.(301-303)GAC>GGC	p.D101G	NKX2-5_uc011dfe.1_Missense_Mutation_p.D101G|NKX2-5_uc010jjt.1_Missense_Mutation_p.D101G	NM_004387	NP_004378	P52952	NKX25_HUMAN	NK2 transcription factor related, locus 5	101	Ala/Pro-rich.				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTTGGCTGGGTCGGGGTCGCT	0.657													C	172661785	T	C	172661785	3	2	94	1	0	0	0	0	1	0	0	0	10453	1667	58	3	815	3	NKX2-5	5	172661785	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	465021	172661785	8253475	1106	60239											
CPEB4	80315	broad.mit.edu	37	chr5	173378896	173378896	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcacagccacttgacccaCgaaaaactatatttgttggt	7	10	1	1	rs142267358		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:173378896C>T	uc003mcs.3	+	8	3141	c.1735C>T	c.(1735-1737)CGA>TGA	p.R579*	CPEB4_uc010jju.1_Nonsense_Mutation_p.R554*|CPEB4_uc010jjv.2_Nonsense_Mutation_p.R562*|CPEB4_uc011dfg.1_Nonsense_Mutation_p.R554*|CPEB4_uc003mct.3_Nonsense_Mutation_p.R189*|CPEB4_uc003mcu.3_Nonsense_Mutation_p.R172*	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	579							nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACTTGACCCACGAAAAACTAT	0.423													T	173378896	C	T	173378896	4	4	94	1	0	0	0	0	0	1	0	0	3803	528	19	1	1765	1	CPEB4	5	173378896	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	717111	173378896	7536364	1107	60240											
RNF44	22838	broad.mit.edu	37	chr5	175959073	175959073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcattcgggggctcccgcCggcaggagccgaggctcggc	17	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:175959073C>T	uc003mek.1	-	3	754	c.229G>A	c.(229-231)GGC>AGC	p.G77S	RNF44_uc011dfo.1_5'UTR|RNF44_uc003mel.1_5'Flank	NM_014901	NP_055716	Q7L0R7	RNF44_HUMAN	ring finger protein 44	77	Pro-rich.						zinc ion binding				0	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCTCCCGCCGGCAGGAGCC	0.711													T	175959073	C	T	175959073	3	4	94	1	0	0	0	0	1	0	0	0	13496	652	23	1	1105	1	RNF44	5	175959073	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2580177	175959073	4956187	1108	60241											
GPRIN1	114787	broad.mit.edu	37	chr5	176026665	176026665	+	Frame_Shift_Del	DEL	G	G	-													ctttggtcaggggtgtgcctGgggggtgcagggcttgcctt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:176026664_176026664TG>T	uc003meo.1	-	1	347	c.172_172CA>A	c.(172-174)aggfs	p.R58fs	GPRIN1_uc021yif.1_Frame_Shift_Del_p.R58fs	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	58						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGTGTGCCTGGGGGGTGCA	0.657													-	176026665	G	-	176026665	7	5	94	1	0	1	0	1	0	0	0	0	6729	1335	47	0	2859	0	GPRIN1	5	176026665	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	67592	176026665	4888595	1109	60242											
FGFR4	2264	broad.mit.edu	37	chr5	176520461	176520461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcatccctggtacgaggcGtgcgtctctcctccagcggc	12	16	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:176520461G>A	uc003mfl.2	+	10	1473	c.1306G>A	c.(1306-1308)GTG>ATG	p.V436M	FGFR4_uc003mfm.2_Missense_Mutation_p.V436M|FGFR4_uc011dfu.1_Silent_p.A384A|FGFR4_uc003mfo.2_Missense_Mutation_p.V396M	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	436	Cytoplasmic (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GGTACGAGGCGTGCGTCTCTC	0.622										TSP Lung(9;0.080)			A	176520461	G	A	176520461	3	1	94	1	0	0	0	0	1	0	0	0	5868	1145	40	1	1410	1	FGFR4	5	176520461	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	493796	176520461	4394799	1110	60243											
GRK6	2870	broad.mit.edu	37	chr5	176857878	176857878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctattgctcccacaggtggcGgtggaaatcgcaaaggcaaa	12	10	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:176857878G>A	uc011dfz.1	+	2	218	c.58G>A	c.(58-60)GGT>AGT	p.G20S	GRK6_uc003mgp.2_Missense_Mutation_p.G20S|GRK6_uc003mgq.2_Missense_Mutation_p.G20S|GRK6_uc003mgs.1_5'Flank	NM_002082	NP_002073	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6 isoform B	20	N-terminal.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)|stomach(1)|breast(1)	3	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACAGGTGGCGGTGGAAATCG	0.612													A	176857878	G	A	176857878	3	1	94	1	0	0	0	0	1	0	0	0	6793	1116	39	1	64	1	GRK6	5	176857878	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	337417	176857878	4057382	1111	60244											
PDLIM7	9260	broad.mit.edu	37	chr5	176915118	176915118	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgggtgcatagcgcacgTcatagcatggtgggcagaag	16	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:176915118T>C	uc003mhc.1	-	10	1086	c.1001A>G	c.(1000-1002)GAC>GGC	p.D334G	PDLIM7_uc003mha.1_Missense_Mutation_p.D228G|PDLIM7_uc003mhb.1_Missense_Mutation_p.D300G|PDLIM7_uc003mhd.1_Missense_Mutation_p.D186G|PDLIM7_uc003mhe.1_RNA|PDLIM7_uc003mhf.2_3'UTR	NM_005451	NP_005442	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 isoform 1	334	LIM zinc-binding 1.				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)	1	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATAGCGCACGTCATAGCATGG	0.587													C	176915118	T	C	176915118	3	2	94	1	0	0	0	0	1	0	0	0	11684	1667	58	3	388	3	PDLIM7	5	176915118	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	57240	176915118	4000142	1112	60245											
FAM193B	54540	broad.mit.edu	37	chr5	176951522	176951522	+	Frame_Shift_Del	DEL	G	G	-													ctctaggctggctgggggccGgggggctgggcttgcctcgc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:176951522delG	uc003mhs.3	-	8	3450	c.1861delC	c.(1861-1863)CGGfs	p.R621fs	FAM193B_uc003mhr.2_Frame_Shift_Del_p.R158fs|FAM193B_uc003mht.2_Frame_Shift_Del_p.R280fs|FAM193B_uc003mhu.2_Frame_Shift_Del_p.R333fs|FAM193B_uc003mhv.2_Frame_Shift_Del_p.R280fs|FAM193B_uc003mhw.2_RNA	NM_019057	NP_061930	E9PET5	E9PET5_HUMAN	hypothetical protein LOC54540	654											0						GCTGGGGGCCGGGGGGCTGGG	0.662													-	176951522	G	-	176951522	7	5	94	1	0	1	0	1	0	0	0	0	5525	1115	39	0	520	0	FAM193B	5	176951522	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	36404	176951522	3963738	1113	60246											
B4GALT7	11285	broad.mit.edu	37	chr5	177034445	177034445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgggcccttccacgtgGcctccccggagctccaccct	11	19	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:177034445G>A	uc003mhy.2	+	3	596	c.556G>A	c.(556-558)GCC>ACC	p.A186T	B4GALT7_uc003mhz.2_Missense_Mutation_p.A72T	NM_007255	NP_009186	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase 7	186	Lumenal (Potential).		A -> D (in EDSP).		fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			pancreas(1)	1	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCCACGTGGCCTCCCCGGA	0.622											OREG0017092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	177034445	G	A	177034445	3	1	94	1	0	0	0	0	1	0	0	0	1276	1203	42	2	566	2	B4GALT7	5	177034445	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	82923	177034445	3880815	1114	60247											
CLK4	57396	broad.mit.edu	37	chr5	178045622	178045622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggactgcttctcctgctgcGgactgaagatttactgcagt	11	10	1	2	rs142631847		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:178045622G>A	uc003mjf.1	-	3	427	c.319C>T	c.(319-321)CGC>TGC	p.R107C	CLK4_uc003mjg.1_Missense_Mutation_p.R71C|CLK4_uc010jku.1_5'UTR|CLK4_uc003mjh.1_5'UTR|CLK4_uc010jkv.1_RNA|CLK4_uc011dgg.1_Missense_Mutation_p.R107C|CLK4_uc011dgh.1_5'UTR|CLK4_uc011dgi.1_Missense_Mutation_p.R107C|CLK4_uc011dgj.1_Missense_Mutation_p.R107C|CLK4_uc003mji.2_Missense_Mutation_p.R107C	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	107						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(1)	1	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		CTCCTGCTGCGGACTGAAGAT	0.423													A	178045622	G	A	178045622	3	1	94	1	0	0	0	0	1	0	0	0	3539	1116	39	1	1170	1	CLK4	5	178045622	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1011177	178045622	2869638	1115	60248											
GRM6	2916	broad.mit.edu	37	chr5	178416065	178416065	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagggcgtgggcaatggcgtAcaccgcatcaatcacaaact	12	11	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:178416065A>G	uc003mjr.2	-	6	1404	c.1225T>C	c.(1225-1227)TAC>CAC	p.Y409H	GRM6_uc010jla.1_Intron|GRM6_uc003mjs.1_Missense_Mutation_p.Y29H	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	409	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCAATGGCGTACACCGCATCA	0.632													G	178416065	A	G	178416065	3	3	94	1	0	0	0	0	1	0	0	0	6801	391	14	3	1428	3	GRM6	5	178416065	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	370443	178416065	2499195	1116	60249											
ADAMTS2	9509	broad.mit.edu	37	chr5	178585754	178585754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggcccaaagtcctgccGtgtgaggaagatggcgtgat	16	8	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:178585754G>A	uc003mjw.2	-	6	1102	c.1102C>T	c.(1102-1104)CGG>TGG	p.R368W	ADAMTS2_uc011dgm.1_Missense_Mutation_p.R368W	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	368	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AAGTCCTGCCGTGTGAGGAAG	0.627													A	178585754	G	A	178585754	3	1	94	1	0	0	0	0	1	0	0	0	265	1144	40	1	2676	1	ADAMTS2	5	178585754	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	169689	178585754	2329506	1117	60250											
HNRNPH1	3187	broad.mit.edu	37	chr5	179044644	179044644	+	Frame_Shift_Del	DEL	A	A	-													tctcacagggttgagcggtgAaaaaaactacaacacaaggc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:179044644delA	uc003mkf.3	-	9	1034	c.928delT	c.(928-930)TCAfs	p.S310fs	HNRNPH1_uc011dgn.1_Frame_Shift_Del_p.S40fs|HNRNPH1_uc003mkg.3_Frame_Shift_Del_p.S218fs|HNRNPH1_uc003mke.3_Frame_Shift_Del_p.S310fs|HNRNPH1_uc003mkh.3_Frame_Shift_Del_p.S310fs	NM_005520	NP_005511	P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1	310	RRM 3.|2 X 16 AA Gly-rich approximate repeats.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding				0						TTGAGCGGTGAAAAAAACTAC	0.383													-	179044644	A	-	179044644	7	5	94	1	0	1	0	1	0	0	0	0	7266	246	9	0	441	0	HNRNPH1	5	179044644	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	458890	179044644	1870616	1118	60251											
MGAT4B	11282	broad.mit.edu	37	chr5	179226267	179226267	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctggaagagggacggtTtgaagcggatccgcaggttg	18	7	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:179226267T>C	uc003mks.2	-	10	1454	c.1085A>G	c.(1084-1086)AAA>AGA	p.K362R	MGAT4B_uc003mkp.2_Missense_Mutation_p.K216R|MGAT4B_uc003mkq.2_Intron|MGAT4B_uc003mkr.2_Missense_Mutation_p.K377R|MIR1229_hsa-mir-1229|MI0006319_5'Flank	NM_014275	NP_055090	Q9UQ53	MGT4B_HUMAN	alpha-1,3-mannosyl-glycoprotein	362	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding				0	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGGACGGTTTGAAGCGGAT	0.627													C	179226267	T	C	179226267	3	2	94	1	0	0	0	0	1	0	0	0	9546	1841	64	3	585	3	MGAT4B	5	179226267	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	181623	179226267	1688993	1119	60252											
RASGEF1C	255426	broad.mit.edu	37	chr5	179555581	179555581	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttctggtgcagagcctgTaggagctgatgcatcctctt	12	10	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:179555581T>C	uc003mlq.2	-	4	765	c.468A>G	c.(466-468)CTA>CTG	p.L156L	RASGEF1C_uc003mlr.2_Silent_p.L156L|RASGEF1C_uc003mlp.3_Silent_p.L5L	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	156	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGAGCCTGTAGGAGCTGAT	0.602													C	179555581	T	C	179555581	2	2	94	1	0	0	0	0	0	0	0	1	13071	1625	57	3		3	RASGEF1C	5	179555581	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	329314	179555581	1359679	1120	60253											
RASGEF1C	255426	broad.mit.edu	37	chr5	179555592	179555592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcctgtaggagctgatGcatcctcttccggtatgcct	11	12	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:179555592G>A	uc003mlq.2	-	4	754	c.457C>T	c.(457-459)CAT>TAT	p.H153Y	RASGEF1C_uc003mlr.2_Missense_Mutation_p.H153Y|RASGEF1C_uc003mlp.3_Missense_Mutation_p.H2Y	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	153	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGAGCTGATGCATCCTCTTC	0.607													A	179555592	G	A	179555592	3	1	94	1	0	0	0	0	1	0	0	0	13071	1319	46	2	983	2	RASGEF1C	5	179555592	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	11	179555592	1359668	1121	60254											
GFPT2	9945	broad.mit.edu	37	chr5	179731781	179731781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagccctcacctggcgggcCgtgacttgctgcagggcgtt	15	13	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:179731781C>T	uc003mlw.1	-	17	1931	c.1833G>A	c.(1831-1833)ACG>ACA	p.T611T		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	611	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			ovary(1)|skin(1)	2	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCTGGCGGGCCGTGACTTGCT	0.587													T	179731781	C	T	179731781	2	4	94	1	0	0	0	0	0	0	0	1	6346	639	23	1		1	GFPT2	5	179731781	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	176189	179731781	1183479	1122	60255											
FLT4	2324	broad.mit.edu	37	chr5	180048800	180048800	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttgaggcggtaccagcgcaGatgctcgtacttgtagctgt	14	9	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:180048800G>T	uc003mma.3	-	13	1841	c.1762C>A	c.(1762-1764)CTG>ATG	p.L588M	FLT4_uc003mlz.3_Missense_Mutation_p.L588M|FLT4_uc003mmb.1_Missense_Mutation_p.L121M|FLT4_uc011dgy.1_Missense_Mutation_p.L588M	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	588	Ig-like C2-type 6.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TACCAGCGCAGATGCTCGTAC	0.627									Congenital_Hereditary_Lymphedema				T	180048800	G	T	180048800	3	4	94	1	0	0	0	0	1	0	0	0	5944	933	33	5	2409	5	FLT4	5	180048800	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	317019	180048800	866460	1123	60256											
BTNL8	79908	broad.mit.edu	37	chr5	180374580	180374581	+	Frame_Shift_Ins	INS	-	-	T													aatactctgctgtggcctatINStttttggcattgttggactg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:180374579_180374580A>AT	uc003mmp.3	+	3	975_976	c.741_742A>AT	c.(739-744)ctatttfs	p.L247fs	BTNL8_uc003mmq.3_Frame_Shift_Ins_p.L247fs|BTNL8_uc010jll.3_Frame_Shift_Ins_p.L247fs|BTNL8_uc011dhg.2_Frame_Shift_Ins_p.L122fs|BTNL8_uc010jlm.3_Frame_Shift_Ins_p.L131fs|BTNL8_uc011dhh.2_Frame_Shift_Ins_p.L63fs	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	247						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGTGGCCTATTTTTTGGCAT	0.446													T	180374581	-	T	180374580	7	5	94	1	0	1	1	0	0	0	0	0	1567	1493	52	0	782	0	BTNL8	5	180374580	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	325780	180374580	540680	1124	60257											
TRIM7	81786	broad.mit.edu	37	chr5	180630563	180630565	+	In_Frame_Del	DEL	CTT	CTT	-													accagcagctccttgctctcCttcttttccgtggaccggaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:180630563_180630565delCTT	uc003mmz.1	-	2	665_667	c.598_600delAAG	c.(598-600)AAGdel	p.K200del	TRIM7_uc003mmv.1_5'Flank|TRIM7_uc003mmw.1_5'UTR|TRIM7_uc003mmx.1_5'UTR|TRIM7_uc003mmy.1_5'UTR|TRIM7_uc003mna.2_In_Frame_Del_p.K200del	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	200	Potential.					cytoplasm|nucleus	zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CCTTGCTCTCCTTCTTTTCCGTG	0.571													-	180630565	CTT	-	180630563	7	5	94	1	0	1	0	1	0	0	0	0	16540	680	24	0	1079	0	TRIM7	5	180630563	In_Frame_Del	DEL	CTT	TCGA-BR-8487-01A-11D-2394-08	255983	180630563	284697	1125	60258											
IRF4	3662	broad.mit.edu	37	chr6	394868	394868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagaaggcatcgacaagccGgaccctcccacctggaagac	11	15	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:394868G>A	uc003msz.3	+	3	377	c.264G>A	c.(262-264)CCG>CCA	p.P88P	IRF4_uc010jne.1_Silent_p.P88P|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Silent_p.P88P|IRF4_uc003mtc.1_5'Flank	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	88	IRF tryptophan pentad repeat.				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		TCGACAAGCCGGACCCTCCCA	0.512			T	IGH@	MM 								A	394868	G	A	394868	2	1	94	1	0	0	0	0	0	0	0	1	7832	1103	39	1		1	IRF4	6	394868	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08		394868	170720199	1126	60259											
EXOC2	55770	broad.mit.edu	37	chr6	637811	637811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caagggggggttgtcgtgatCgagacattgtgctttgtgga	17	5	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:637811C>T	uc003mtd.2	-	2	142	c.8G>A	c.(7-9)CGA>CAA	p.R3Q	EXOC2_uc003mte.2_Missense_Mutation_p.R3Q|EXOC2_uc011dho.1_Intron	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	3					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTGTCGTGATCGAGACATTGT	0.473													T	637811	C	T	637811	3	4	94	1	0	0	0	0	1	0	0	0	5302	884	31	1	2874	1	EXOC2	6	637811	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	242943	637811	170477256	1127	60260											
GMDS	2762	broad.mit.edu	37	chr6	1726689	1726689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttgagatccacagtcacGtgaactttgccggtctcttt	8	11	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:1726689G>A	uc003mtq.2	-	9	1138	c.948C>T	c.(946-948)CAC>CAT	p.H316H		NM_001500	NP_001491	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	316					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity			central_nervous_system(1)	1	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		CCACAGTCACGTGAACTTTGC	0.507													A	1726689	G	A	1726689	2	1	94	1	0	0	0	0	0	0	0	1	6486	1136	40	1		1	GMDS	6	1726689	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1088878	1726689	169388378	1128	60261											
TUBB2A	7280	broad.mit.edu	37	chr6	3157684	3157684	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggcccgcctggatgtgcAcgatctcgcgcatggtgccg	14	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:3157684A>G	uc003mvc.2	-	1	100	c.14T>C	c.(13-15)GTG>GCG	p.V5A	TUBB2A_uc003mvb.2_5'Flank|TUBB2A_uc003mvd.2_Missense_Mutation_p.V5A	NM_001069	NP_001060	Q13885	TBB2A_HUMAN	tubulin, beta 2	5					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			skin(1)	1	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CTGGATGTGCACGATCTCGCG	0.647													G	3157684	A	G	3157684	3	3	94	1	0	0	0	0	1	0	0	0	16751	159	6	3	1339	3	TUBB2A	6	3157684	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1430995	3157684	167957383	1129	60262											
PRPF4B	8899	broad.mit.edu	37	chr6	4041057	4041057	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaaggcggtctcgatcacgCggtggtcgtagacgaaggag	17	9	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:4041057C>T	uc003mvv.2	+	4	1555	c.1464C>T	c.(1462-1464)CGC>CGT	p.R488R	PRPF4B_uc003mvw.2_RNA|PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	488	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CTCGATCACGCGGTGGTCGTA	0.418													T	4041057	C	T	4041057	2	4	94	1	0	0	0	0	0	0	0	1	12573	755	27	1		1	PRPF4B	6	4041057	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	883373	4041057	167074010	1130	60263											
FARS2	10667	broad.mit.edu	37	chr6	5404868	5404868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacacacaccatggaggccGtgaagcttgtagagtttgat	12	8	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:5404868G>A	uc010jnv.1	+	3	1042	c.706G>A	c.(706-708)GTG>ATG	p.V236M	FARS2_uc003mwr.2_Missense_Mutation_p.V236M|FARS2_uc003mws.1_Missense_Mutation_p.V236M	NM_006567	NP_006558	O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2 precursor	236					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CATGGAGGCCGTGAAGCTTGT	0.398													A	5404868	G	A	5404868	3	1	94	1	0	0	0	0	1	0	0	0	5678	1145	40	1	712	1	FARS2	6	5404868	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1363811	5404868	165710199	1131	60264											
F13A1	2162	broad.mit.edu	37	chr6	6225036	6225036	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgatggggggacgccatAggcatagatattgtcccagg	16	9	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:6225036A>G	uc003mwv.2	-	7	979	c.856T>C	c.(856-858)TAT>CAT	p.Y286H	F13A1_uc011dib.1_Missense_Mutation_p.Y223H	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	286					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGGACGCCATAGGCATAGATA	0.493													G	6225036	A	G	6225036	3	3	94	1	0	0	0	0	1	0	0	0	5340	420	15	3	1378	3	F13A1	6	6225036	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	820168	6225036	164890031	1132	60265											
DSP	1832	broad.mit.edu	37	chr6	7579924	7579924	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaaagccatcaaggagaaGgagtacgagattgaaaggtt	14	4	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:7579924G>T	uc003mxp.1	+	23	3780	c.3501G>T	c.(3499-3501)AAG>AAT	p.K1167N	DSP_uc003mxq.1_Missense_Mutation_p.K1167N	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1167	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCAAGGAGAAGGAGTACGAGA	0.433													T	7579924	G	T	7579924	3	4	94	1	0	0	0	0	1	0	0	0	4781	991	35	5	3591	5	DSP	6	7579924	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1354888	7579924	163535143	1133	60266											
TFAP2A	7020	broad.mit.edu	37	chr6	10398771	10398771	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcggtgagatagttctgcAgggccgtgaccgcggcacac	14	13	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:10398771A>G	uc003myr.2	-	7	1445	c.1193T>C	c.(1192-1194)CTG>CCG	p.L398P	TFAP2A_uc003myq.2_Missense_Mutation_p.L392P|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_3'UTR|TFAP2A_uc003myt.2_Missense_Mutation_p.L394P	NM_003220	NP_003211	P05549	AP2A_HUMAN	transcription factor AP-2 alpha isoform a	398	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			ovary(1)	1	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				ATAGTTCTGCAGGGCCGTGAC	0.597													G	10398771	A	G	10398771	3	3	94	1	0	0	0	0	1	0	0	0	15784	188	7	3	124	3	TFAP2A	6	10398771	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	2818847	10398771	160716296	1134	60267											
HIVEP1	3096	broad.mit.edu	37	chr6	12015864	12015864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctgagtcaaagaagatGcctcgaactaaacaaattca	8	10	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:12015864G>A	uc003nac.2	+	2	182	c.3G>A	c.(1-3)ATG>ATA	p.M1I		NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAAAGAAGATGCCTCGAACTA	0.363													A	12015864	G	A	12015864	3	1	94	1	0	0	0	0	1	0	0	0	7186	1319	46	2	5	2	HIVEP1	6	12015864	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1617093	12015864	159099203	1135	60268											
HIVEP1	3096	broad.mit.edu	37	chr6	12124064	12124064	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaataaagccgagtttcttAtgattccagctggcttgaat	8	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:12124064A>G	uc003nac.2	+	4	4215	c.4036A>G	c.(4036-4038)ATG>GTG	p.M1346V	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1346					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CGAGTTTCTTATGATTCCAGC	0.428													G	12124064	A	G	12124064	3	3	94	1	0	0	0	0	1	0	0	0	7186	449	16	3	4046	3	HIVEP1	6	12124064	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	108200	12124064	158991003	1136	60269											
JARID2	3720	broad.mit.edu	37	chr6	15496636	15496637	+	Frame_Shift_Ins	INS	-	-	G													caaacaggtgctatccctcgINSggggggcgtccaagtccact							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:15496635_15496636C>CG	uc003nbj.3	+	6	1423_1424	c.1179_1180C>CG	c.(1177-1182)ctcgggfs	p.L393fs	JARID2_uc011diu.1_Frame_Shift_Ins_p.L257fs|JARID2_uc011div.2_Frame_Shift_Ins_p.L221fs|JARID2_uc011diw.1_Frame_Shift_Ins_p.L355fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	393					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	p.L393L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGCTATCCCTCGGGGGGGCGTC	0.574													G	15496637	-	G	15496636	7	5	94	1	0	1	1	0	0	0	0	0	7945	1116	39	0	1206	0	JARID2	6	15496636	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	3372572	15496636	155618431	1137	60270											
JARID2	3720	broad.mit.edu	37	chr6	15512511	15512511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagagtggccagtttgtcGtctgcttcccgggatccttt	12	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:15512511G>A	uc003nbj.2	+	14	3269	c.3025G>A	c.(3025-3027)GTC>ATC	p.V1009I	JARID2_uc011div.1_Missense_Mutation_p.V837I	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	1009	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CCAGTTTGTCGTCTGCTTCCC	0.582													A	15512511	G	A	15512511	3	1	94	1	0	0	0	0	1	0	0	0	7945	1145	40	1	3079	1	JARID2	6	15512511	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	15875	15512511	155602556	1138	60271											
RBM24	221662	broad.mit.edu	37	chr6	17292068	17292068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccagccgacagcagctgcCgcctccaccaccccttacat	7	20	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:17292068C>T	uc003nbz.3	+	4	433	c.429C>T	c.(427-429)GCC>GCT	p.A143A	RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Silent_p.A85A|RBM24_uc003nca.2_Silent_p.A98A|RBM24_uc011diy.1_Missense_Mutation_p.P57L|RBM24_uc011diz.1_Missense_Mutation_p.P42L	NM_001143942	NP_001137414	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24 isoform 1	143	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			ovary(1)|skin(1)	2	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			CAGCAGCTGCCGCCTCCACCA	0.458													T	17292068	C	T	17292068	2	4	94	1	0	0	0	0	0	0	0	1	13124	639	23	1		1	RBM24	6	17292068	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1779557	17292068	153822999	1139	60272											
RBM24	221662	broad.mit.edu	37	chr6	17292143	17292143	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctgctgctgctgccgcCgccgctgctgcctatgacca	12	17	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:17292143C>T	uc003nbz.3	+	4	508	c.504C>T	c.(502-504)GCC>GCT	p.A168A	RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Silent_p.A110A|RBM24_uc003nca.2_Silent_p.A123A|RBM24_uc011diy.1_Missense_Mutation_p.P82L|RBM24_uc011diz.1_Missense_Mutation_p.P67L	NM_001143942	NP_001137414	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24 isoform 1	168	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			ovary(1)|skin(1)	2	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			ctgctgccgccgccgctgctg	0.483													T	17292143	C	T	17292143	2	4	94	1	0	0	0	0	0	0	0	1	13124	639	23	1		1	RBM24	6	17292143	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	75	17292143	153822924	1140	60273											
FAM8A1	51439	broad.mit.edu	37	chr6	17601001	17601001	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcaagtgcacgagtggCtgtggcagtcctactgcggc	15	13	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:17601001C>T	uc003ncc.2	+	1	484	c.361C>T	c.(361-363)CTG>TTG	p.L121L		NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	121						integral to membrane					0	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GCACGAGTGGCTGTGGCAGTC	0.721													T	17601001	C	T	17601001	2	4	94	1	0	0	0	0	0	0	0	1	5649	796	28	2		2	FAM8A1	6	17601001	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	308858	17601001	153514066	1141	60274											
FAM8A1	51439	broad.mit.edu	37	chr6	17602852	17602852	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttattccatccttggcccaCagatttatggcagagatggt	10	9	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:17602852C>T	uc003ncc.2	+	2	867	c.744C>T	c.(742-744)CAC>CAT	p.H248H		NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	248	RDD.					integral to membrane					0	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			CCTTGGCCCACAGATTTATGG	0.353													T	17602852	C	T	17602852	2	4	94	1	0	0	0	0	0	0	0	1	5649	477	17	4		4	FAM8A1	6	17602852	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1851	17602852	153512215	1142	60275											
ALDH5A1	7915	broad.mit.edu	37	chr6	24533872	24533872	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagcagtccggccttgggCgagaggggtccaagtatggc	17	9	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:24533872C>T	uc003neg.2	+	10	1568	c.1540C>T	c.(1540-1542)CGA>TGA	p.R514*	ALDH5A1_uc003nef.2_Nonsense_Mutation_p.R527*	NM_001080	NP_001071	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5A1 isoform 2 precursor	514					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity				0					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	CGGCCTTGGGCGAGAGGGGTC	0.483													T	24533872	C	T	24533872	4	4	94	1	0	0	0	0	0	1	0	0	502	760	27	1	1621	1	ALDH5A1	6	24533872	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	6931020	24533872	146581195	1143	60276											
LRRC16A	55604	broad.mit.edu	37	chr6	25529097	25529097	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctaccgcctgcagcagggTattgtcaccagcaccaccca	9	17	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:25529097T>C	uc011djw.1	+	24	2419	c.2043T>C	c.(2041-2043)GGT>GGC	p.G681G	LRRC16A_uc010jpx.2_Silent_p.G681G|LRRC16A_uc010jpy.2_Silent_p.G681G|LRRC16A_uc003nfa.1_Silent_p.G35G	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	681					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						TGCAGCAGGGTATTGTCACCA	0.498													C	25529097	T	C	25529097	2	2	94	1	0	0	0	0	0	0	0	1	8971	1625	57	3		3	LRRC16A	6	25529097	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	995225	25529097	145585970	1144	60277											
SLC17A3	10786	broad.mit.edu	37	chr6	25861923	25861923	+	Frame_Shift_Del	DEL	C	C	-													tttcccaaattgcaaactgaCccccaagtattgaggactga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:25861922_25861922AC>A	uc003nfk.4	-	4	665	c.555_555GT>T	c.(553-555)ggtfs	p.G185fs	SLC17A3_uc003nfi.4_Frame_Shift_Del_p.G107fs|SLC17A3_uc011djz.1_Frame_Shift_Del_p.G185fs|SLC17A3_uc011dka.1_Frame_Shift_Del_p.G107fs	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	107					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TTGCAAACTGACCCCCAAGTA	0.393													-	25861923	C	-	25861923	7	5	94	1	0	1	0	1	0	0	0	0	14418	507	18	0	974	0	SLC17A3	6	25861923	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	332826	25861923	145253144	1145	60278											
HIST1H4B	8366	broad.mit.edu	37	chr6	26027254	26027254	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacagtcttgcgcttggcgTgctccgtgtaggtcacggcg	15	11	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:26027254T>C	uc003nfr.2	-	1	227	c.227A>G	c.(226-228)CAC>CGC	p.H76R		NM_003544	NP_003535	P62805	H4_HUMAN	histone cluster 1, H4b	76					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2						GCGCTTGGCGTGCTCCGTGTA	0.537											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	26027254	T	C	26027254	3	2	94	1	0	0	0	0	1	0	0	0	7166	1696	59	3	88	3	HIST1H4B	6	26027254	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	165331	26027254	145087813	1146	60279											
HIST1H2BC	8347	broad.mit.edu	37	chr6	26123766	26123766	+	Missense_Mutation	SNP	T	T	C													gaatgtttacttggagctggTgtacttggtgacggccttgg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:26123766T>C	uc003ngk.3	-	1	389	c.367A>G	c.(367-369)ACC>GCC	p.T123A	HIST1H2BC_uc003ngl.2_Missense_Mutation_p.T123A|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank	NM_003526	NP_003517	P62807	H2B1C_HUMAN	histone cluster 1, H2bc	123					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1						TTGGAGCTGGTGTACTTGGTG	0.572													C	26123766	T	C	26123766	3	2	94	1	0	0	0	0	1	0	0	0	7142	1696	59	3	17	3	HIST1H2BC	6	26123766	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	96512	26123766	144991301	1147	60280	278	2									
HIST1H2BC	8347	broad.mit.edu	37	chr6	26123773	26123773	+	Silent	SNP	G	G	A													tacttggagctggtgtacttGgtgacggccttggtgccctc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:26123773G>A	uc003ngk.3	-	1	382	c.360C>T	c.(358-360)ACC>ACT	p.T120T	HIST1H2BC_uc003ngl.2_Silent_p.T120T|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank	NM_003526	NP_003517	P62807	H2B1C_HUMAN	histone cluster 1, H2bc	120					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1						TGGTGTACTTGGTGACGGCCT	0.572													A	26123773	G	A	26123773	2	1	94	1	0	0	0	0	0	0	0	1	7142	1335	47	4		4	HIST1H2BC	6	26123773	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	7	26123773	144991294	1148	60281	278	2									
HIST1H2AD	3013	broad.mit.edu	37	chr6	26199429	26199429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgaagagcgggtcttagCcttagctcgggcctttccgc	13	14	1	1	rs146180063		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:26199429C>T	uc003ngw.2	-	1	43	c.43G>A	c.(43-45)GCT>ACT	p.A15T	HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank	NM_021065	NP_066409	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	15					nucleosome assembly	nucleosome|nucleus	DNA binding				0		all_hematologic(11;0.196)				CGGGTCTTAGCCTTAGCTCGG	0.557													T	26199429	C	T	26199429	3	4	94	1	0	0	0	0	1	0	0	0	7131	739	26	2	353	2	HIST1H2AD	6	26199429	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	75656	26199429	144915638	1149	60282											
HIST1H3G	8355	broad.mit.edu	37	chr6	26271325	26271325	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaccaagtaggcctcgcaGgcctcctgcagggccatcac	10	18	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:26271325G>T	uc003nhi.2	-	1	288	c.288C>A	c.(286-288)GCC>GCA	p.A96A	uc003nhj.2_5'Flank|HIST1H2BI_uc003nhk.2_5'Flank	NM_003534	NP_003525	P68431	H31_HUMAN	H3 histone family, member H	96					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0						AGGCCTCGCAGGCCTCCTGCA	0.572													T	26271325	G	T	26271325	2	4	94	1	0	0	0	0	0	0	0	1	7161	987	35	5		5	HIST1H3G	6	26271325	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	71896	26271325	144843742	1150	60283											
BTN2A2	10385	broad.mit.edu	37	chr6	26390383	26390383	+	Frame_Shift_Del	DEL	A	A	-													catcaagaaacttcaaagggAaaaaaagattctgtcagggg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:26390383delA	uc003nhq.2	+	5	961	c.875delA	c.(874-876)GAAfs	p.E292fs	BTN2A2_uc011dkf.1_Frame_Shift_Del_p.E176fs|BTN2A2_uc011dkg.1_Frame_Shift_Del_p.E198fs|BTN2A2_uc003nhr.2_Frame_Shift_Del_p.E176fs|BTN2A2_uc011dkh.1_Frame_Shift_Del_p.E82fs|BTN2A2_uc003nhs.2_Frame_Shift_Del_p.E292fs|BTN2A2_uc003nht.2_Frame_Shift_Del_p.E292fs|BTN2A2_uc011dki.1_Frame_Shift_Del_p.E41fs	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	292	Potential.|Cytoplasmic (Potential).				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						CTTCAAAGGGAAAAAAAGATT	0.398													-	26390383	A	-	26390383	7	5	94	1	0	1	0	1	0	0	0	0	1561	246	9	0	889	0	BTN2A2	6	26390383	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	119058	26390383	144724684	1151	60284											
ZNF184	7738	broad.mit.edu	37	chr6	27420877	27420877	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgtctgttggtttgccTgctgtctctctaaactgcct	10	11	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:27420877T>C	uc003njj.2	-	5	1272	c.461A>G	c.(460-462)CAG>CGG	p.Q154R	ZNF184_uc010jqv.2_Missense_Mutation_p.Q154R|ZNF184_uc003nji.2_Missense_Mutation_p.Q154R	NM_007149	NP_009080	Q99676	ZN184_HUMAN	zinc finger protein 184	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTGGTTTGCCTGCTGTCTCTC	0.403													C	27420877	T	C	27420877	3	2	94	1	0	0	0	0	1	0	0	0	17748	1580	55	3	1798	3	ZNF184	6	27420877	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1030494	27420877	143694190	1152	60285											
HIST1H2BM	8342	broad.mit.edu	37	chr6	27782980	27782980	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcaggtccaccccgacacCggcatctcttccaaggctat	8	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:27782980C>T	uc003njo.2	+	1	159	c.159C>T	c.(157-159)ACC>ACT	p.T53T	HIST1H2AJ_uc003njn.1_5'Flank	NM_003521	NP_003512	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	53					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(1)	1						ACCCCGACACCGGCATCTCTT	0.537													T	27782980	C	T	27782980	2	4	94	1	0	0	0	0	0	0	0	1	7152	639	23	1		1	HIST1H2BM	6	27782980	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	362103	27782980	143332087	1153	60286											
HIST1H2BM	8342	broad.mit.edu	37	chr6	27783176	27783176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccgagggcaccaaggccGtcaccaagtataccagctcc	10	15	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:27783176G>A	uc003njo.2	+	1	355	c.355G>A	c.(355-357)GTC>ATC	p.V119I	HIST1H2AJ_uc003njn.1_5'Flank	NM_003521	NP_003512	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	119					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(1)	1						CACCAAGGCCGTCACCAAGTA	0.607													A	27783176	G	A	27783176	3	1	94	1	0	0	0	0	1	0	0	0	7152	1145	40	1	357	1	HIST1H2BM	6	27783176	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	196	27783176	143331891	1154	60287											
HIST1H4K	8362	broad.mit.edu	37	chr6	27799300	27799300	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgcctttgccgcggccAgacatgacgagcaagaggag	13	13	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:27799300A>G	uc003njr.2	-	1	6	c.6T>C	c.(4-6)TCT>TCC	p.S2S		NM_003541	NP_003532	P62805	H4_HUMAN	histone cluster 1, H4k	2					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0						TGCCGCGGCCAGACATGACGA	0.597													G	27799300	A	G	27799300	2	3	94	1	0	0	0	0	0	0	0	1	7175	175	7	3		3	HIST1H4K	6	27799300	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	16124	27799300	143315767	1155	60288											
ZSCAN16	80345	broad.mit.edu	37	chr6	28097507	28097507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaaaagccttcattcagCgctcacatctcattggacat	8	11	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:28097507C>T	uc003nkm.2	+	4	926	c.826C>T	c.(826-828)CGC>TGC	p.R276C	uc010jqw.1_Intron|uc003nkk.1_Intron|uc003nkl.1_Intron	NM_025231	NP_079507	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	276	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1						CTTCATTCAGCGCTCACATCT	0.433													T	28097507	C	T	28097507	3	4	94	1	0	0	0	0	1	0	0	0	18226	768	27	1	836	1	ZSCAN16	6	28097507	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	298207	28097507	143017560	1156	60289											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28214760	28214760	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcttaccaagggagaccagGctgctatggttctcctgctt	11	11	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:28214760G>T	uc003nks.1	-	4	1009	c.765C>A	c.(763-765)AGC>AGA	p.S255R	ZKSCAN4_uc011dlb.1_Missense_Mutation_p.S100R	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	255	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						GGGAGACCAGGCTGCTATGGT	0.468													T	28214760	G	T	28214760	3	4	94	1	0	0	0	0	1	0	0	0	17686	1194	42	5	880	5	ZKSCAN4	6	28214760	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	117253	28214760	142900307	1157	60290											
ZKSCAN3	80317	broad.mit.edu	37	chr6	28327560	28327560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccgcgaggcgctgagtcGgctccgagagctctgccgac	14	17	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:28327560G>A	uc003nle.3	+	2	413	c.197G>A	c.(196-198)CGG>CAG	p.R66Q	ZKSCAN3_uc010jrc.2_Missense_Mutation_p.R66Q|ZKSCAN3_uc003nlf.3_Intron	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	66	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						GCGCTGAGTCGGCTCCGAGAG	0.662													A	28327560	G	A	28327560	3	1	94	1	0	0	0	0	1	0	0	0	17685	1116	39	1	199	1	ZKSCAN3	6	28327560	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	112800	28327560	142787507	1158	60291											
SCAND3	114821	broad.mit.edu	37	chr6	28543226	28543226	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaatatatctaaaagagcaTgtgcaacttccgtaggcctt	7	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:28543226T>C	uc003nlo.2	-	3	1874	c.1256A>G	c.(1255-1257)CAT>CGT	p.H419R		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	419	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TAAAAGAGCATGTGCAACTTC	0.383													C	28543226	T	C	28543226	3	2	94	1	0	0	0	0	1	0	0	0	13876	1464	51	3	2729	3	SCAND3	6	28543226	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	215666	28543226	142571841	1159	60292											
OR14J1	442191	broad.mit.edu	37	chr6	29274602	29274602	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaacctcctcattatcaccAtcattaccgtggaccgtcgt	6	15	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:29274602A>G	uc011dln.1	+	1	136	c.136A>G	c.(136-138)ATC>GTC	p.I46V		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	46	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CATTATCACCATCATTACCGT	0.473													G	29274602	A	G	29274602	3	3	94	1	0	0	0	0	1	0	0	0	10948	217	8	3	138	3	OR14J1	6	29274602	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	731376	29274602	141840465	1160	60293											
MAS1L	116511	broad.mit.edu	37	chr6	29455056	29455056	+	Frame_Shift_Del	DEL	T	T	-													cagtaagttaggaaaagtgaTtttactatgttgatgcaaaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:29455056delT	uc011dlq.1	-	1	624	c.624delA	c.(622-624)AAAfs	p.K208fs		NM_052967	NP_443199	P35410	MAS1L_HUMAN	MAS1 oncogene-like	208	Extracellular (Potential).					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			ovary(7)|lung(2)	9						GGAAAAGTGATTTTACTATGT	0.433													-	29455056	T	-	29455056	7	5	94	1	0	1	0	1	0	0	0	0	9321	1490	52	0	514	0	MAS1L	6	29455056	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	180454	29455056	141660011	1161	60294											
HLA-F	3134	broad.mit.edu	37	chr6	29691536	29691536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagacgacacgcaattcctgCggttcgacagcgacgccgcg	12	14	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:29691536C>T	uc010jrl.2	+	2	290	c.166C>T	c.(166-168)CGG>TGG	p.R56W	HLA-F_uc003nnm.3_Missense_Mutation_p.R56W|HLA-F_uc003nno.3_Missense_Mutation_p.R56W|HLA-F_uc011dlx.1_Missense_Mutation_p.R56W|HLA-F_uc011dly.1_RNA	NM_018950	NP_061823	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	56	Alpha-1.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						GCAATTCCTGCGGTTCGACAG	0.662													T	29691536	C	T	29691536	3	4	94	1	0	0	0	0	1	0	0	0	7211	759	27	1	172	1	HLA-F	6	29691536	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	236480	29691536	141423531	1162	60295											
TRIM26	7726	broad.mit.edu	37	chr6	30154113	30154113	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctccctcttcctcctcaTccccctcttcttcatcctca	0	22	7	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:30154113T>C	uc003npr.2	-	9	1369	c.1160A>G	c.(1159-1161)GAT>GGT	p.D387G	TRIM26_uc003nps.2_Missense_Mutation_p.D387G|TRIM26_uc010jry.2_Missense_Mutation_p.D117G|TRIM26_uc003npt.2_Missense_Mutation_p.D387G	NM_003449	NP_003440	Q12899	TRI26_HUMAN	tripartite motif-containing 26	387	B30.2/SPRY.						DNA binding|zinc ion binding			ovary(2)|lung(1)	3						ttcctcctcatccccctcttc	0.418													C	30154113	T	C	30154113	3	2	94	1	0	0	0	0	1	0	0	0	16497	1435	50	3	463	3	TRIM26	6	30154113	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	462577	30154113	140960954	1163	60296											
GNL1	2794	broad.mit.edu	37	chr6	30514078	30514078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctccgtggtctctggatggGactcccaggtgcctggggaa	16	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:30514078G>A	uc003nqh.2	-	12	2623	c.1595C>T	c.(1594-1596)TCC>TTC	p.S532F	GNL1_uc011dmi.1_Missense_Mutation_p.S329F|GNL1_uc011dmj.1_Missense_Mutation_p.S530F|GNL1_uc011dmk.1_Missense_Mutation_p.S187F	NM_005275	NP_005266	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	532					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			ovary(3)	3						CTCTGGATGGGACTCCCAGGT	0.413													A	30514078	G	A	30514078	3	1	94	1	0	0	0	0	1	0	0	0	6535	1174	41	4	232	4	GNL1	6	30514078	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	359965	30514078	140600989	1164	60297											
KIAA1949	170954	broad.mit.edu	37	chr6	30653469	30653469	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggctttctctctgcTagcagctcttcactccgttg	9	15	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:30653469T>C	uc003nra.2	-	2	558	c.327A>G	c.(325-327)CTA>CTG	p.L109L	KIAA1949_uc003nrb.3_Silent_p.L109L	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN	phostensin	109						cytoplasm|cytoskeleton	actin binding				0						TTCTCTCTGCTAGCAGCTCTT	0.522													C	30653469	T	C	30653469	2	2	94	1	0	0	0	0	0	0	0	1	8263	1509	53	3		3	KIAA1949	6	30653469	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	139391	30653469	140461598	1165	60298											
MDC1	9656	broad.mit.edu	37	chr6	30681463	30681463	+	Frame_Shift_Del	DEL	T	T	-													gaggaagatgtggtccttgaTttttttaccatacgcctttc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:30681463delT	uc003nrg.3	-	4	989	c.549delA	c.(547-549)AAAfs	p.K183fs	MDC1_uc003nrf.3_5'Flank|MDC1_uc011dmp.1_Frame_Shift_Del_p.K55fs|MDC1_uc003nrh.1_Frame_Shift_Del_p.K55fs|MDC1_uc003nri.2_Frame_Shift_Del_p.K183fs	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	183	Interaction with the MRN complex.|Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						TGGTCCTTGATTTTTTTACCA	0.438								Other_conserved_DNA_damage_response_genes					-	30681463	T	-	30681463	7	5	94	1	0	1	0	1	0	0	0	0	9403	1490	52	0	5768	0	MDC1	6	30681463	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	27994	30681463	140433604	1166	60299											
BAT2	7916	broad.mit.edu	37	chr6	31593589	31593589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtatcccccatatctcccGttccctccgccctatggacc	5	19	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:31593589G>A	uc003nvb.3	+	8	1029	c.780G>A	c.(778-780)CCG>CCA	p.P260P	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Silent_p.P260P|BAT2_uc003nve.2_3'UTR	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	260	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						CATATCTCCCGTTCCCTCCGC	0.567													A	31593589	G	A	31593589	2	1	94	1	0	0	0	0	0	0	0	1	1319	1132	40	1		1	BAT2	6	31593589	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	912126	31593589	139521478	1167	60300											
BAT2	7916	broad.mit.edu	37	chr6	31600180	31600180	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcgaccccgaaggaggCgacatgggagggctcagcag	19	10	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:31600180C>T	uc003nvb.3	+	16	3979	c.3730C>T	c.(3730-3732)CGA>TGA	p.R1244*	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Nonsense_Mutation_p.R1244*	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1244	Poly-Arg.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						CCGAAGGAGGCGACATGGGAG	0.632													T	31600180	C	T	31600180	4	4	94	1	0	0	0	0	0	1	0	0	1319	760	27	1	3788	1	BAT2	6	31600180	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	6591	31600180	139514887	1168	60301											
VARS	7407	broad.mit.edu	37	chr6	31745394	31745394	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcatcttctggaatagggCgatggcctcatccaccttcc	9	14	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:31745394C>A	uc003nxe.2	-	30	4195	c.3772G>T	c.(3772-3774)GCC>TCC	p.A1258S	C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1258					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	TGGAATAGGGCGATGGCCTCA	0.562													A	31745394	C	A	31745394	3	1	94	1	0	0	0	0	1	0	0	0	17120	768	27	5	26	5	VARS	6	31745394	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	145214	31745394	139369673	1169	60302											
HSPA1L	3305	broad.mit.edu	37	chr6	31777884	31777884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcacataccctgttccGcaggcaggcccagtgcatcc	10	17	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:31777884G>A	uc003nxh.2	-	2	2049	c.1866C>T	c.(1864-1866)TGC>TGT	p.C622C	HSPA1L_uc010jte.2_Silent_p.C622C	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	622					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						ACCCTGTTCCGCAGGCAGGCC	0.463													A	31777884	G	A	31777884	2	1	94	1	0	0	0	0	0	0	0	1	7410	1079	38	1		1	HSPA1L	6	31777884	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	32490	31777884	139337183	1170	60303											
HSPA1A	3303	broad.mit.edu	37	chr6	31783543	31783543	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggaaccggcatggccaaaGccgcggcgatcggcatcgac	15	13	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:31783543G>T	uc003nxj.2	+	1	253	c.10G>T	c.(10-12)GCC>TCC	p.A4S	HSPA1L_uc003nxh.2_5'Flank|HSPA1L_uc010jte.2_5'Flank|HSPA1A_uc011doj.1_Missense_Mutation_p.A4S|HSPA1A_uc003nxi.1_Missense_Mutation_p.A4S|uc011dok.1_RNA	NM_005345	NP_005336	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	4					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			ovary(1)	1						CATGGCCAAAGCCGCGGCGAT	0.642													T	31783543	G	T	31783543	3	4	94	1	0	0	0	0	1	0	0	0	7408	971	34	5	12	5	HSPA1A	6	31783543	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	5659	31783543	139331524	1171	60304											
RDBP	7936	broad.mit.edu	37	chr6	31926206	31926206	+	Frame_Shift_Del	DEL	G	G	-													tcctcttcctcgctcagtccGgggggtatcaccaacatggt					rs146039608		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:31926205_31926205CG>C	uc003nyk.3	-	1	223	c.19_19CG>G	c.(19-21)ggafs	p.G7fs	RDBP_uc011dot.2_Frame_Shift_Del_p.G7fs|RDBP_uc021yvb.1_Frame_Shift_Del_p.G7fs|MIR1236_uc021yvc.1_5'Flank|SKIV2L_uc003nyn.1_5'Flank|SKIV2L_uc011dou.1_5'Flank|SKIV2L_uc011dov.1_5'Flank	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	7					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						TCGCTCAGTCCGGGGGGTATC	0.542													-	31926206	G	-	31926206	7	5	94	1	0	1	0	1	0	0	0	0	13188	1103	39	0	1164	0	RDBP	6	31926206	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	142663	31926206	139188861	1172	60305											
TNXB	7148	broad.mit.edu	37	chr6	32057080	32057080	+	Frame_Shift_Del	DEL	G	G	-													tgacctggtactcctgtccaGgggccagtcctctctggtca					rs3134959		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:32057080delG	uc003nzl.2	-	5	2637	c.2435delC	c.(2434-2436)CCTfs	p.P812fs		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	764					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CTCCTGTCCAGGGGCCAGTCC	0.642													-	32057080	G	-	32057080	7	5	94	1	0	1	0	1	0	0	0	0	16343	1000	35	0	12438	0	TNXB	6	32057080	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	130874	32057080	139057987	1173	60306											
NOTCH4	4855	broad.mit.edu	37	chr6	32187376	32187376	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccagctgatacctggcggGcagaggcagtggaaggtggc	17	9	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:32187376G>A	uc003obb.2	-	8	1642	c.1503C>T	c.(1501-1503)TGC>TGT	p.C501C	NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Silent_p.C501C	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	501	EGF-like 12; calcium-binding (Potential).|Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						TACCTGGCGGGCAGAGGCAGT	0.602													A	32187376	G	A	32187376	2	1	94	1	0	0	0	0	0	0	0	1	10551	1195	42	2		2	NOTCH4	6	32187376	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	130296	32187376	138927691	1174	60307											
HLA-DRA	3122	broad.mit.edu	37	chr6	32410339	32410339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatatggcaaagaaggagaCggtctggcggcttgaagaat	16	5	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:32410339C>T	uc003obh.2	+	2	278	c.197C>T	c.(196-198)ACG>ATG	p.T66M	HLA-DRA_uc003obi.2_Missense_Mutation_p.T66M	NM_019111	NP_061984	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR	66	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			ovary(1)|skin(1)	2						AAGAAGGAGACGGTCTGGCGG	0.468									T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of				T	32410339	C	T	32410339	3	4	94	1	0	0	0	0	1	0	0	0	7207	536	19	1	203	1	HLA-DRA	6	32410339	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	222963	32410339	138704728	1175	60308											
TAP2	6891	broad.mit.edu	37	chr6	32803064	32803064	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaccaggcttcgcaagAgcacattggcatttaaagga	9	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:32803064A>C	uc003occ.2	-	4	843	c.812T>G	c.(811-813)CTC>CGC	p.L271R	TAP2_uc011dqf.1_Missense_Mutation_p.L271R|TAP2_uc003ocb.1_Missense_Mutation_p.L271R|TAP2_uc003ocd.2_Missense_Mutation_p.L271R	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	271	ABC transmembrane type-1.|Helical; Name=6; (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						GCTTCGCAAGAGCACATTGGC	0.522													C	32803064	A	C	32803064	3	2	94	1	0	0	0	0	1	0	0	0	15548	304	11	5	1365	5	TAP2	6	32803064	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	392725	32803064	138312003	1176	60309											
COL11A2	1302	broad.mit.edu	37	chr6	33152075	33152075	+	Frame_Shift_Del	DEL	G	G	-													gcctggaacctgtcggctgtGggggggacctggagatctgt					rs147527758		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:33152075delG	uc003ocx.1	-	8	1194	c.966delC	c.(964-966)CCCfs	p.P322fs	COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	322	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						TGTCGGCTGTGGGGGGGACCT	0.607													-	33152075	G	-	33152075	7	5	94	1	0	1	0	1	0	0	0	0	3668	1335	47	0	4480	0	COL11A2	6	33152075	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	349011	33152075	137962992	1177	60310											
RING1	6015	broad.mit.edu	37	chr6	33179049	33179049	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgtgagctcagactcCgcccctgactctgccccagg	11	15	2	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:33179049C>T	uc003odk.2	+	5	764	c.570C>T	c.(568-570)TCC>TCT	p.S190S	RING1_uc011dqx.1_Silent_p.S190S|RING1_uc003odl.2_Silent_p.S161S	NM_002931	NP_002922	Q06587	RING1_HUMAN	ring finger protein 1	190	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GCTCAGACTCCGCCCCTGACT	0.687													T	33179049	C	T	33179049	2	4	94	1	0	0	0	0	0	0	0	1	13374	639	23	1		1	RING1	6	33179049	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	26974	33179049	137936018	1178	60311											
VPS52	6293	broad.mit.edu	37	chr6	33219710	33219711	+	Frame_Shift_Ins	INS	-	-	C													ccttcacaaatgccactaaaINScccccaaaagggggagacag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:33219710_33219711insC	uc003odm.1	-	18	2042_2043	c.1832_1833insG	c.(1831-1833)GGTfs	p.G611fs	VPS52_uc003odn.1_Frame_Shift_Ins_p.G422fs	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52	611					protein transport	endosome membrane|Golgi apparatus				ovary(4)|skin(1)	5						ATGCCACTAAACCCCCAAAAGG	0.485													C	33219711	-	C	33219710	7	5	94	1	0	1	1	0	0	0	0	0	17211	30	2	0	350	0	VPS52	6	33219710	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	40661	33219710	137895357	1179	60312	279	2									
VPS52	6293	broad.mit.edu	37	chr6	33219711	33219712	+	Frame_Shift_Ins	INS	-	-	C													cttcacaaatgccactaaacINSccccaaaagggggagacagc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:33219710_33219711A>AC	uc003odm.1	-	17	2042_2043	c.1832_1833T>GT	c.(1831-1833)ggtfs	p.G611fs	HCG25_uc021ywj.1_Intron|VPS52_uc003odn.1_Frame_Shift_Ins_p.G422fs	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	611					protein transport	Golgi apparatus|endosome membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ATGCCACTAAACCCCCAAAAGG	0.485													C	33219712	-	C	33219711	7	5	94	1	0	1	1	0	0	0	0	0	17211	507	18	0	351	0	VPS52	6	33219711	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	33219711	137895356	1180	60313	279	2									
VPS52	6293	broad.mit.edu	37	chr6	33232675	33232675	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctagataagaatccaggtgTttctgtgtgattggggaaca	13	5	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:33232675T>G	uc003odm.1	-	13	1494	c.1284A>C	c.(1282-1284)AAA>AAC	p.K428N	VPS52_uc003odn.1_Missense_Mutation_p.K239N	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52	428					protein transport	endosome membrane|Golgi apparatus				ovary(4)|skin(1)	5						AATCCAGGTGTTTCTGTGTGA	0.428													G	33232675	T	G	33232675	3	3	94	1	0	0	0	0	1	0	0	0	17211	1722	60	5	919	5	VPS52	6	33232675	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	12964	33232675	137882392	1181	60314											
TAPBP	6892	broad.mit.edu	37	chr6	33272175	33272175	+	Frame_Shift_Del	DEL	G	G	-													catgctgctcagtggtgactGggggcggctgcaagtgccca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:33272175delG	uc003odx.1	-	5	1280	c.1109delC	c.(1108-1110)CCAfs	p.P370fs	TAPBP_uc010jus.1_Frame_Shift_Del_p.P388fs|TAPBP_uc003ody.2_3'UTR|TAPBP_uc003odz.2_Frame_Shift_Del_p.P370fs|TAPBP_uc010jut.1_Frame_Shift_Del_p.P283fs|TAPBP_uc011drc.1_Frame_Shift_Del_p.P370fs	NM_003190	NP_003181	O15533	TPSN_HUMAN	tapasin isoform 1 precursor	370	Ig-like C1-type.|Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			ovary(1)	1						AGTGGTGACTGGGGGCGGCTG	0.677													-	33272175	G	-	33272175	7	5	94	1	0	1	0	1	0	0	0	0	15549	1348	47	0	433	0	TAPBP	6	33272175	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	39500	33272175	137842892	1182	60315											
TAPBP	6892	broad.mit.edu	37	chr6	33281127	33281127	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcccgcgggcagttctgCgcgggggtcaggccgctggc	20	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:33281127C>T	uc003odx.1	-	3	507	c.336G>A	c.(334-336)GCG>GCA	p.A112A	TAPBP_uc010jus.1_Silent_p.A112A|TAPBP_uc003ody.2_Silent_p.A112A|TAPBP_uc003odz.2_Silent_p.A112A|TAPBP_uc010jut.1_Intron|TAPBP_uc011drc.1_Silent_p.A112A	NM_003190	NP_003181	O15533	TPSN_HUMAN	tapasin isoform 1 precursor	112	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			ovary(1)	1						GGCAGTTCTGCGCGGGGGTCA	0.692													T	33281127	C	T	33281127	2	4	94	1	0	0	0	0	0	0	0	1	15549	755	27	1		1	TAPBP	6	33281127	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	8952	33281127	137833940	1183	60316											
SYNGAP1	8831	broad.mit.edu	37	chr6	33393628	33393628	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtccagtcgcaacaaactGctgagacgcacagtctccgt	10	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:33393628G>A	uc011dri.1	+	3	438	c.243G>A	c.(241-243)CTG>CTA	p.L81L	SYNGAP1_uc003oeo.1_Silent_p.L66L|SYNGAP1_uc010juy.2_Silent_p.L66L	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	81					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						GCAACAAACTGCTGAGACGCA	0.697													A	33393628	G	A	33393628	2	1	94	1	0	0	0	0	0	0	0	1	15444	1306	46	2		2	SYNGAP1	6	33393628	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	112501	33393628	137721439	1184	60317											
SYNGAP1	8831	broad.mit.edu	37	chr6	33405813	33405813	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgggggatctgggggcatGggttcgggagggggaggggg	27	3	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:33405813G>T	uc011dri.1	+	8	1326	c.1131G>T	c.(1129-1131)ATG>ATT	p.M377I	SYNGAP1_uc003oeo.1_Missense_Mutation_p.M362I|SYNGAP1_uc010juy.2_Missense_Mutation_p.M362I|SYNGAP1_uc010juz.2_Missense_Mutation_p.M89I	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	377					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						CTGGGGGCATGGGTTCGGGAG	0.662													T	33405813	G	T	33405813	3	4	94	1	0	0	0	0	1	0	0	0	15444	1348	47	5	1161	5	SYNGAP1	6	33405813	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	12185	33405813	137709254	1185	60318											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411374	33411374	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtttggaccctctggcacTgacttcacccgtcggcagct	11	14	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:33411374T>G	uc011dri.1	+	15	3240	c.3045T>G	c.(3043-3045)ACT>ACG	p.T1015T	SYNGAP1_uc010juy.2_Silent_p.T986T|SYNGAP1_uc010juz.2_Silent_p.T727T	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1015					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						CCTCTGGCACTGACTTCACCC	0.607													G	33411374	T	G	33411374	2	3	94	1	0	0	0	0	0	0	0	1	15444	1567	55	5		5	SYNGAP1	6	33411374	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	5561	33411374	137703693	1186	60319											
GRM4	2914	broad.mit.edu	37	chr6	34003743	34003743	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtccaccacaaaccacacaCagatgcccagcagctgcagc	8	17	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:34003743C>G	uc003oir.3	-	8	2314	c.2144G>C	c.(2143-2145)TGT>TCT	p.C715S	GRM4_uc011dsn.1_Missense_Mutation_p.C668S|GRM4_uc010jvh.2_Missense_Mutation_p.C715S|GRM4_uc010jvi.2_Missense_Mutation_p.C407S|GRM4_uc003oio.2_Missense_Mutation_p.C407S|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.C575S|GRM4_uc003oiq.2_Missense_Mutation_p.C582S|GRM4_uc011dsm.1_Missense_Mutation_p.C546S	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	715	Helical; Name=4; (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	AAACCACACACAGATGCCCAG	0.642													G	34003743	C	G	34003743	3	3	94	1	0	0	0	0	1	0	0	0	6799	478	17	5	606	5	GRM4	6	34003743	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	592369	34003743	137111324	1187	60320											
GRM4	2914	broad.mit.edu	37	chr6	34004131	34004131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggggcagcacggcccaggGcgagccccactcaagcttga	15	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:34004131G>A	uc003oir.3	-	8	1926	c.1756C>T	c.(1756-1758)CCC>TCC	p.P586S	GRM4_uc011dsn.1_Missense_Mutation_p.P539S|GRM4_uc010jvh.2_Missense_Mutation_p.P586S|GRM4_uc010jvi.2_Missense_Mutation_p.P278S|GRM4_uc003oio.2_Missense_Mutation_p.P278S|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.P446S|GRM4_uc003oiq.2_Missense_Mutation_p.P453S|GRM4_uc011dsm.1_Missense_Mutation_p.P417S	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	586	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	ACGGCCCAGGGCGAGCCCCAC	0.632													A	34004131	G	A	34004131	3	1	94	1	0	0	0	0	1	0	0	0	6799	1203	42	2	994	2	GRM4	6	34004131	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	388	34004131	137110936	1188	60321											
DEF6	50619	broad.mit.edu	37	chr6	35288973	35288973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctgccagataagcgtcCggtcaccagcagctccttct	8	16	3	1	rs149576757		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:35288973C>T	uc003okk.2	+	11	1721	c.1682C>T	c.(1681-1683)CCG>CTG	p.P561L	DEF6_uc010jvs.2_Missense_Mutation_p.P536L|DEF6_uc010jvt.2_Missense_Mutation_p.P306L	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog	561						cytoplasm|nucleus|plasma membrane					0						GATAAGCGTCCGGTCACCAGC	0.632													T	35288973	C	T	35288973	3	4	94	1	0	0	0	0	1	0	0	0	4386	652	23	1	1724	1	DEF6	6	35288973	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1284842	35288973	135826094	1189	60322											
PPARD	5467	broad.mit.edu	37	chr6	35393806	35393806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggatcaagaagaccgaaaccGagacctcgctgcaccctctg	10	14	2	3	rs139791337		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:35393806G>A	uc003okm.2	+	8	1585	c.1276G>A	c.(1276-1278)GAG>AAG	p.E426K	PPARD_uc003okn.2_Missense_Mutation_p.E426K|PPARD_uc011dtb.1_Missense_Mutation_p.E387K|PPARD_uc011dtc.1_Missense_Mutation_p.E328K	NM_006238	NP_006229	Q03181	PPARD_HUMAN	peroxisome proliferative activated receptor,	426	Ligand-binding.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GACCGAAACCGAGACCTCGCT	0.607													A	35393806	G	A	35393806	3	1	94	1	0	0	0	0	1	0	0	0	12298	1059	37	1	1323	1	PPARD	6	35393806	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	104833	35393806	135721261	1190	60323											
FKBP5	2289	broad.mit.edu	37	chr6	35543652	35543655	+	Frame_Shift_Del	DEL	CTGT	CTGT	-													tctcttcttccattgcttgaCtgtctgttcctttttcatta							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:35543651_35543654ACTGT>A	uc011dte.1	-	10	1535_1538	c.1332_1335ACAGT>T	c.(1330-1335)gacagtfs	p.D444fs	FKBP5_uc003okx.2_Frame_Shift_Del_p.D444fs|FKBP5_uc011dtf.1_Frame_Shift_Del_p.D265fs|FKBP5_uc003oky.2_Frame_Shift_Del_p.D444fs	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	444					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CCATTGCTTGACTGTCTGTTCCTT	0.495													-	35543655	CTGT	-	35543652	7	5	94	1	0	1	0	1	0	0	0	0	5911	565	20	0	43	0	FKBP5	6	35543652	Frame_Shift_Del	DEL	CTGT	TCGA-BR-8487-01A-11D-2394-08	149846	35543652	135571415	1191	60324											
C6orf222	389384	broad.mit.edu	37	chr6	36298298	36298298	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagctgggctgtctgaatgtCtggcccaatcactggtcgtc	13	11	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:36298298C>T	uc003oly.2	-	2	348	c.170G>A	c.(169-171)AGA>AAA	p.R57K		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	hypothetical protein LOC389384	57										skin(2)|ovary(1)|breast(1)	4						GTCTGAATGTCTGGCCCAATC	0.652													T	36298298	C	T	36298298	3	4	94	1	0	0	0	0	1	0	0	0	2356	913	32	4	1832	4	C6orf222	6	36298298	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	754646	36298298	134816769	1192	60325											
SFRS3	6428	broad.mit.edu	37	chr6	36569517	36569517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agataggagaagagagagatCgctgtctcgggagagaaatc	15	5	1	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:36569517C>T	uc003omj.2	+	5	584	c.413C>T	c.(412-414)TCG>TTG	p.S138L	SFRS3_uc003omk.2_RNA	NM_003017	NP_003008	P84103	SRSF3_HUMAN	splicing factor, arginine/serine-rich 3	138	2 X approximate repeats, basic.|Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0						AGAGAGAGATCGCTGTCTCGG	0.368			T	BCL6	follicular lymphoma								T	36569517	C	T	36569517	3	4	94	1	0	0	0	0	1	0	0	0	14178	893	31	1	427	1	SFRS3	6	36569517	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	271219	36569517	134545550	1193	60326											
FGD2	221472	broad.mit.edu	37	chr6	36982426	36982426	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccctgcccctttcagaagcCctggacatgatcttctcagc	8	16	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:36982426C>A	uc010jwp.1	+	7	999	c.828C>A	c.(826-828)GCC>GCA	p.A276A	FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_Silent_p.A82A	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	276	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			upper_aerodigestive_tract(1)|lung(1)|pancreas(1)	3						TTTCAGAAGCCCTGGACATGA	0.602													A	36982426	C	A	36982426	2	1	94	1	0	0	0	0	0	0	0	1	5833	610	22	5		5	FGD2	6	36982426	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	412909	36982426	134132641	1194	60327											
TBC1D22B	55633	broad.mit.edu	37	chr6	37237385	37237385	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttagcattcagcctgtataTggagcacagcatcctcctct	7	12	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:37237385T>C	uc003onn.2	+	2	218	c.72T>C	c.(70-72)TAT>TAC	p.Y24Y	TBC1D22B_uc010jwt.2_RNA	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	24						intracellular	Rab GTPase activator activity				0			OV - Ovarian serous cystadenocarcinoma(102;0.241)			AGCCTGTATATGGAGCACAGC	0.398													C	37237385	T	C	37237385	2	2	94	1	0	0	0	0	0	0	0	1	15609	1471	51	3		3	TBC1D22B	6	37237385	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	254959	37237385	133877682	1195	60328											
TBC1D22B	55633	broad.mit.edu	37	chr6	37250063	37250063	+	Frame_Shift_Del	DEL	C	C	-													ggatcagaacgcttctggggCccccccaatgactgtccggg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:37250063delC	uc003onn.2	+	4	670	c.524delC	c.(523-525)GCCfs	p.A175fs	TBC1D22B_uc010jwt.2_RNA	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	175						intracellular	Rab GTPase activator activity				0			OV - Ovarian serous cystadenocarcinoma(102;0.241)			GCTTCTGGGGCCCCCCCAATG	0.572													-	37250063	C	-	37250063	7	5	94	1	0	1	0	1	0	0	0	0	15609	739	26	0	538	0	TBC1D22B	6	37250063	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	12678	37250063	133865004	1196	60329											
FTSJD2	23070	broad.mit.edu	37	chr6	37403507	37403507	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctccacgtccgatgatgaAcctccctcctctgtcagtca	7	16	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:37403507A>G	uc003ons.2	+	2	355	c.102A>G	c.(100-102)GAA>GAG	p.E34E	FTSJD2_uc010jwu.2_Silent_p.E34E	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	FtsJ methyltransferase domain containing 2	34					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						CCGATGATGAACCTCCCTCCT	0.507													G	37403507	A	G	37403507	2	3	94	1	0	0	0	0	0	0	0	1	6091	40	2	3		3	FTSJD2	6	37403507	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	153444	37403507	133711560	1197	60330											
FTSJD2	23070	broad.mit.edu	37	chr6	37418080	37418080	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtaccactgaaattccTgacactcaggaaatgagcga	9	9	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:37418080T>C	uc003ons.2	+	5	751	c.498T>C	c.(496-498)CCT>CCC	p.P166P	FTSJD2_uc010jwu.2_Silent_p.P166P	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	FtsJ methyltransferase domain containing 2	166					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						CTGAAATTCCTGACACTCAGG	0.468													C	37418080	T	C	37418080	2	2	94	1	0	0	0	0	0	0	0	1	6091	1567	55	3		3	FTSJD2	6	37418080	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	14573	37418080	133696987	1198	60331											
DNAH8	1769	broad.mit.edu	37	chr6	38704868	38704868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctttactgttctggatgCgtcgaaaggactcttaaatg	10	8	3	0	rs145115573	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:38704868C>T	uc003ooe.1	+	4	737	c.137C>T	c.(136-138)GCG>GTG	p.A46V		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GTTCTGGATGCGTCGAAAGGA	0.378													T	38704868	C	T	38704868	3	4	94	1	0	0	0	0	1	0	0	0	4607	768	27	1	143	1	DNAH8	6	38704868	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1286788	38704868	132410199	1199	60332											
USP49	25862	broad.mit.edu	37	chr6	41773522	41773522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcgcagagaaattcctgCgcgtcctgttggtcgtagcc	12	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:41773522C>T	uc003ori.2	-	4	1422	c.1200G>A	c.(1198-1200)GCG>GCA	p.A400A		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	400					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAAATTCCTGCGCGTCCTGTT	0.617													T	41773522	C	T	41773522	2	4	94	1	0	0	0	0	0	0	0	1	17077	755	27	1		1	USP49	6	41773522	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3068654	41773522	129341545	1200	60333											
TRERF1	55809	broad.mit.edu	37	chr6	42211008	42211008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaatcgtcgatgatttctGccaggcgtgtccggtgtttc	11	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:42211008G>A	uc003osd.2	-	15	3400	c.2837C>T	c.(2836-2838)GCA>GTA	p.A946V	TRERF1_uc011duq.1_Missense_Mutation_p.A863V|TRERF1_uc003osb.2_Missense_Mutation_p.A702V|TRERF1_uc003osc.2_Missense_Mutation_p.A702V|TRERF1_uc003ose.2_Missense_Mutation_p.A966V	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	946	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GATGATTTCTGCCAGGCGTGT	0.557													A	42211008	G	A	42211008	3	1	94	1	0	0	0	0	1	0	0	0	16472	1319	46	2	781	2	TRERF1	6	42211008	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	437486	42211008	128904059	1201	60334											
TRERF1	55809	broad.mit.edu	37	chr6	42235905	42235905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatacctggggccacatgGcactgggagacagctgctga	14	10	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:42235905G>A	uc003osd.2	-	5	1987	c.1424C>T	c.(1423-1425)GCC>GTC	p.A475V	TRERF1_uc011duq.1_Missense_Mutation_p.A475V|TRERF1_uc003osb.2_Missense_Mutation_p.A314V|TRERF1_uc003osc.2_Missense_Mutation_p.A314V|TRERF1_uc003ose.2_Missense_Mutation_p.A475V	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	475	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGGCCACATGGCACTGGGAGA	0.597													A	42235905	G	A	42235905	3	1	94	1	0	0	0	0	1	0	0	0	16472	1203	42	2	2234	2	TRERF1	6	42235905	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	24897	42235905	128879162	1202	60335											
KIAA0240	23506	broad.mit.edu	37	chr6	42832398	42832398	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttttgttcccatttccagaGggttttcaggctgatttctg	9	8	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:42832398G>T	uc003osn.1	+	13	2605	c.2454G>T	c.(2452-2454)GAG>GAT	p.E818D	KIAA0240_uc011duw.1_Missense_Mutation_p.E818D|KIAA0240_uc003osp.1_Missense_Mutation_p.E818D	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	818										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			CATTTCCAGAGGGTTTTCAGG	0.483													T	42832398	G	T	42832398	3	4	94	1	0	0	0	0	1	0	0	0	8164	1014	35	5	2496	5	KIAA0240	6	42832398	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	596493	42832398	128282669	1203	60336											
PTK7	5754	broad.mit.edu	37	chr6	43109810	43109810	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcctggaccccaccaagcTgggacccaggtagggccacc	11	17	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:43109810T>C	uc003oub.1	+	12	2108	c.1910T>C	c.(1909-1911)CTG>CCG	p.L637P	PTK7_uc003ouc.1_Intron|PTK7_uc003oud.1_Missense_Mutation_p.L597P|PTK7_uc003oue.1_Missense_Mutation_p.L507P|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Missense_Mutation_p.L645P|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	PTK7 protein tyrosine kinase 7 isoform a	637	Ig-like C2-type 7.|Extracellular (Potential).				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(2)|large_intestine(1)	3			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCCACCAAGCTGGGACCCAGG	0.672													C	43109810	T	C	43109810	3	2	94	1	0	0	0	0	1	0	0	0	12765	1580	55	3	1956	3	PTK7	6	43109810	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	277412	43109810	128005257	1204	60337											
SRF	6722	broad.mit.edu	37	chr6	43146121	43146121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgcatgcggtgatgtatGcccccacctcgggcctgggt	14	15	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:43146121G>A	uc003oui.2	+	5	1727	c.1252G>A	c.(1252-1254)GCC>ACC	p.A418T	SRF_uc011dvf.1_Missense_Mutation_p.A214T	NM_003131	NP_003122	P11831	SRF_HUMAN	serum response factor (c-fos serum response	418					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			ovary(1)|breast(1)|central_nervous_system(1)	3			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGTGATGTATGCCCCCACCTC	0.627													A	43146121	G	A	43146121	3	1	94	1	0	0	0	0	1	0	0	0	15142	1319	46	2	1270	2	SRF	6	43146121	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	36311	43146121	127968946	1205	60338											
ZNF318	24149	broad.mit.edu	37	chr6	43323652	43323652	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caaattatccttgtggcataGaaaacttccaaatttttctc	4	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:43323652G>A	uc003oux.2	-	4	1498	c.1420C>T	c.(1420-1422)CTA>TTA	p.L474L	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	474					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTGTGGCATAGAAAACTTCCA	0.507													A	43323652	G	A	43323652	2	1	94	1	0	0	0	0	0	0	0	1	17833	933	33	4		4	ZNF318	6	43323652	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	177531	43323652	127791415	1206	60339											
CAPN11	11131	broad.mit.edu	37	chr6	44143881	44143881	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcttactctgtgactggccTtcaggatgtgagtcctgaga	12	10	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:44143881T>C	uc003owt.1	+	8	946	c.908T>C	c.(907-909)CTT>CCT	p.L303P	CAPN11_uc011dvn.1_5'Flank	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	calpain 11	303	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)|breast(1)	2	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTGACTGGCCTTCAGGATGTG	0.532													C	44143881	T	C	44143881	3	2	94	1	0	0	0	0	1	0	0	0	2624	1609	56	3	938	3	CAPN11	6	44143881	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	820229	44143881	126971186	1207	60340											
CAPN11	11131	broad.mit.edu	37	chr6	44144341	44144341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggagtgggaagaggtggCctcagacatccagatgcagc	16	9	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:44144341C>T	uc003owt.1	+	10	1063	c.1025C>T	c.(1024-1026)GCC>GTC	p.A342V	CAPN11_uc011dvn.1_5'UTR	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	calpain 11	342	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)|breast(1)	2	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAAGAGGTGGCCTCAGACATC	0.632													T	44144341	C	T	44144341	3	4	94	1	0	0	0	0	1	0	0	0	2624	739	26	2	1063	2	CAPN11	6	44144341	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	460	44144341	126970726	1208	60341											
CAPN11	11131	broad.mit.edu	37	chr6	44144696	44144696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctacgagggcagctggCgcagaggcagctccgcaggg	16	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:44144696C>T	uc003owt.1	+	11	1236	c.1198C>T	c.(1198-1200)CGC>TGC	p.R400C	CAPN11_uc011dvn.1_Missense_Mutation_p.R54C	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	calpain 11	400	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)|breast(1)	2	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGGCAGCTGGCGCAGAGGCAG	0.632													T	44144696	C	T	44144696	3	4	94	1	0	0	0	0	1	0	0	0	2624	768	27	1	1240	1	CAPN11	6	44144696	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	355	44144696	126970371	1209	60342											
HSP90AB1	3326	broad.mit.edu	37	chr6	44218837	44218837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcattgctatttattcctcGtcgggctccctttgaccttt	8	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:44218837G>A	uc003oxa.1	+	7	1094	c.1010G>A	c.(1009-1011)CGT>CAT	p.R337H	HSP90AB1_uc011dvr.1_Missense_Mutation_p.R327H|HSP90AB1_uc003oxb.1_Missense_Mutation_p.R337H|HSP90AB1_uc011dvs.1_Missense_Mutation_p.R157H|HSP90AB1_uc003oxc.1_5'UTR	NM_007355	NP_031381	P08238	HS90B_HUMAN	heat shock 90kDa protein 1, beta	337					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			lung(3)|breast(1)	4	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTTATTCCTCGTCGGGCTCCC	0.398													A	44218837	G	A	44218837	3	1	94	1	0	0	0	0	1	0	0	0	7402	1145	40	1	1032	1	HSP90AB1	6	44218837	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	74141	44218837	126896230	1210	60343											
CDC5L	988	broad.mit.edu	37	chr6	44371563	44371563	+	Frame_Shift_Del	DEL	A	A	-													cagacgtcttgctgccctccAaaaaagaagagaacttcgag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:44371563delA	uc003oxl.2	+	6	816	c.557delA	c.(556-558)CAAfs	p.Q186fs		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	186	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCTGCCCTCCAAAAAAGAAGA	0.353													-	44371563	A	-	44371563	7	5	94	1	0	1	0	1	0	0	0	0	3082	130	5	0	579	0	CDC5L	6	44371563	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	152726	44371563	126743504	1211	60344											
CLIC5	53405	broad.mit.edu	37	chr6	45882038	45882038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccatccaggaacttgcgcCgggaccccttgtcttcccca	8	19	1	0	rs145681060	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:45882038C>T	uc003oxv.3	-	5	1098	c.992G>A	c.(991-993)CGG>CAG	p.R331Q	CLIC5_uc003oxu.3_Missense_Mutation_p.R172Q|CLIC5_uc003oxw.2_RNA|CLIC5_uc003oxx.2_Missense_Mutation_p.R172Q	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5 isoform a	331	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			ovary(1)|skin(1)	2						GAACTTGCGCCGGGACCCCTT	0.552													T	45882038	C	T	45882038	3	4	94	1	0	0	0	0	1	0	0	0	3529	652	23	1	248	1	CLIC5	6	45882038	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1510475	45882038	125233029	1212	60345											
C6orf138	442213	broad.mit.edu	37	chr6	47976384	47976384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttacccatggcgaagaacGggattcccagcagggtggag	15	9	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:47976384G>A	uc011dwm.1	-	2	927	c.842C>T	c.(841-843)CCG>CTG	p.P281L	C6orf138_uc011dwn.1_Missense_Mutation_p.P45L|C6orf138_uc003ozf.2_Missense_Mutation_p.P298L	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	298	Helical; (Potential).|SSD.					integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1						GGCGAAGAACGGGATTCCCAG	0.493													A	47976384	G	A	47976384	3	1	94	1	0	0	0	0	1	0	0	0	2332	1116	39	1	1655	1	C6orf138	6	47976384	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2094346	47976384	123138683	1213	60346											
DEFB112	245915	broad.mit.edu	37	chr6	50011439	50011439	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaattcactatcatcacatTgatttttacatcgacctcca	2	11	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:50011439T>C	uc011dws.1	-	2	191	c.191A>G	c.(190-192)CAA>CGA	p.Q64R		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	beta-defensin 112 precursor	64					defense response to bacterium	extracellular region				central_nervous_system(1)	1	Lung NSC(77;0.042)					ATCATCACATTGATTTTTACA	0.438													C	50011439	T	C	50011439	3	2	94	1	0	0	0	0	1	0	0	0	4401	1812	63	3	153	3	DEFB112	6	50011439	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2035055	50011439	121103628	1214	60347											
TFAP2B	7021	broad.mit.edu	37	chr6	50810889	50810889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagccccatcctggagccGgggatccagagctgcctcac	11	18	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:50810889G>A	uc003pag.2	+	7	1333	c.1167G>A	c.(1165-1167)CCG>CCA	p.P389P		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	389				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					TCCTGGAGCCGGGGATCCAGA	0.632													A	50810889	G	A	50810889	2	1	94	1	0	0	0	0	0	0	0	1	15785	1103	39	1		1	TFAP2B	6	50810889	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	799450	50810889	120304178	1215	60348											
ICK	22858	broad.mit.edu	37	chr6	52870003	52870003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggccatgcactggctgggCggctggaggccgtggtatca	17	12	1	0	rs55932059		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:52870003C>T	uc003pbh.2	-	15	2333	c.1843G>A	c.(1843-1845)GCC>ACC	p.A615T	ICK_uc003pbi.2_Missense_Mutation_p.A615T	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	intestinal cell kinase	615					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5	Lung NSC(77;0.103)					ACTGGCTGGGCGGCTGGAGGC	0.577													T	52870003	C	T	52870003	3	4	94	1	0	0	0	0	1	0	0	0	7484	768	27	1	59	1	ICK	6	52870003	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2059114	52870003	118245064	1216	60349											
FAM83B	222584	broad.mit.edu	37	chr6	54735123	54735123	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagcctcactacaaggaaTggtatcgagtagccattgat	10	8	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:54735123T>C	uc003pck.2	+	2	195	c.79T>C	c.(79-81)TGG>CGG	p.W27R		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	27										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					CTACAAGGAATGGTATCGAGT	0.418													C	54735123	T	C	54735123	3	2	94	1	0	0	0	0	1	0	0	0	5634	1464	51	3	81	3	FAM83B	6	54735123	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1865120	54735123	116379944	1217	60350											
COL21A1	81578	broad.mit.edu	37	chr6	55925815	55925815	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaatggcacctcggacaccAggttctcccttttcacctct	6	17	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:55925815A>G	uc003pcs.2	-	26	2458	c.2226T>C	c.(2224-2226)CCT>CCC	p.P742P	COL21A1_uc010jzz.2_Silent_p.P127P|COL21A1_uc011dxg.1_Silent_p.P115P|COL21A1_uc011dxh.1_Silent_p.P127P|COL21A1_uc003pcr.2_Silent_p.P99P	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	742	Collagen-like 5.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTCGGACACCAGGTTCTCCCT	0.473													G	55925815	A	G	55925815	2	3	94	1	0	0	0	0	0	0	0	1	3680	175	7	3		3	COL21A1	6	55925815	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1190692	55925815	115189252	1218	60351											
COL21A1	81578	broad.mit.edu	37	chr6	56044553	56044553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actatctcttgctgcttgagCtgcatccttgacgtcatctt	7	12	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:56044553C>T	uc003pcs.2	-	3	695	c.463G>A	c.(463-465)GCT>ACT	p.A155T	COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.A155T|COL21A1_uc003pcu.1_Missense_Mutation_p.A155T	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	155	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCTGCTTGAGCTGCATCCTTG	0.438													T	56044553	C	T	56044553	3	4	94	1	0	0	0	0	1	0	0	0	3680	797	28	2	2522	2	COL21A1	6	56044553	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	118738	56044553	115070514	1219	60352											
DST	667	broad.mit.edu	37	chr6	56330968	56330968	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactccgcaggatccggaccAgtcgcagttgctgggagtct	13	12	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:56330968A>G	uc003pdf.2	-	93	16266	c.16238T>C	c.(16237-16239)CTG>CCG	p.L5413P	DST_uc003pcz.3_Missense_Mutation_p.L5235P|DST_uc011dxj.1_Missense_Mutation_p.L5264P|DST_uc011dxk.1_Missense_Mutation_p.L5275P|DST_uc003pcy.3_Missense_Mutation_p.L4909P|DST_uc003pcv.3_5'Flank|DST_uc003pcw.3_5'UTR|DST_uc003pcx.3_5'UTR	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	7321	GAR.				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)			GATCCGGACCAGTCGCAGTTG	0.453													G	56330968	A	G	56330968	3	3	94	1	0	0	0	0	1	0	0	0	4783	188	7	3	809	3	DST	6	56330968	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	286415	56330968	114784099	1220	60353											
DST	667	broad.mit.edu	37	chr6	56400091	56400091	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggctgctcgctgagccacCtgcaaagtgccaattgtttc	11	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:56400091C>A	uc003pdf.2	-	57	10442	c.10414_splice	c.e57-1	p.V3472_splice	DST_uc003pcz.3_Splice_Site_p.V3294_splice|DST_uc011dxj.1_Splice_Site_p.V3323_splice|DST_uc011dxk.1_Splice_Site_p.V3334_splice|DST_uc003pcy.3_Splice_Site_p.V2968_splice	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2						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)			GCTGAGCCACCTGCAAAGTGC	0.498													A	56400091	C	A	56400091	5	1	94	1	0	0	0	0	0	0	1	0	4783	695	24	5	6778	5	DST	6	56400091	Splice_Site	SNP	C	TCGA-BR-8487-01A-11D-2394-08	69123	56400091	114714976	1221	60354											
DST	667	broad.mit.edu	37	chr6	56505385	56505385	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccttaaggccataatttcGtcacgcagttttgcaaccct	6	12	1	0	rs148980773	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:56505385G>A	uc003pdf.2	-	17	1975	c.1947C>T	c.(1945-1947)GAC>GAT	p.D649D	DST_uc003pcz.3_Silent_p.D471D|DST_uc011dxj.1_Silent_p.D500D|DST_uc011dxk.1_Silent_p.D511D|DST_uc011dxl.1_Silent_p.D500D|DST_uc003pcy.3_Silent_p.D145D|DST_uc003pdb.2_Silent_p.D145D|DST_uc003pdc.3_Silent_p.D145D|DST_uc003pdd.3_Silent_p.D145D|DST_uc003pde.2_Silent_p.D587D	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	471					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)			CCATAATTTCGTCACGCAGTT	0.328													A	56505385	G	A	56505385	2	1	94	1	0	0	0	0	0	0	0	1	4783	1136	40	1		1	DST	6	56505385	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	105294	56505385	114609682	1222	60355											
BEND6	221336	broad.mit.edu	37	chr6	56846680	56846681	+	Frame_Shift_Del	DEL	AG	AG	-													aaaggaaagaggaaaagaacAgagacaatggactcagaaaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:56846680_56846681delAG	uc010kab.2	+	2	658_659	c.72_73delAG	c.(70-75)ACAGAGfs	p.T24fs	BEND6_uc003pdg.2_RNA	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	24_25											0						GGAAAAGAACAGAGACAATGGA	0.342													-	56846681	AG	-	56846680	7	5	94	1	0	1	0	1	0	0	0	0	1402	175	7	0	74	0	BEND6	6	56846680	Frame_Shift_Del	DEL	AG	TCGA-BR-8487-01A-11D-2394-08	341295	56846680	114268387	1223	60356											
LMBRD1	55788	broad.mit.edu	37	chr6	70428963	70428963	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatttaaaggtaacgcagacAtgccataggcctaaaagaaa	9	7	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:70428963A>G	uc003pfa.2	-	8	762	c.647T>C	c.(646-648)ATG>ACG	p.M216T	LMBRD1_uc003pey.2_Missense_Mutation_p.M12T|LMBRD1_uc003pez.2_Missense_Mutation_p.M143T|LMBRD1_uc010kal.2_Missense_Mutation_p.M143T|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	216	Cytoplasmic (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1						TAACGCAGACATGCCATAGGC	0.303													G	70428963	A	G	70428963	3	3	94	1	0	0	0	0	1	0	0	0	8842	217	8	3	1011	3	LMBRD1	6	70428963	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	13582283	70428963	100686104	1224	60357											
LMBRD1	55788	broad.mit.edu	37	chr6	70500277	70500277	+	Frame_Shift_Del	DEL	A	A	-													gataagtgcaattgctagagAaaaaattgctgttatggtgg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:70500276_70500276GA>G	uc003pfa.3	-	1	434	c.158_158TC>C	c.(157-159)tctfs	p.S53fs	LMBRD1_uc003pez.3_5'UTR|LMBRD1_uc010kal.3_5'UTR|LMBRD1_uc003pfb.3_Non-coding_Transcript	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	Homo sapiens LMBR1 domain containing 1 (LMBRD1), mRNA.	53					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	p.S53C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						AATTGCTAGAGAAAAAATTGC	0.348													-	70500277	A	-	70500277	7	5	94	1	0	1	0	1	0	0	0	0	8842	246	9	0	1525	0	LMBRD1	6	70500277	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	71314	70500277	100614790	1225	60358											
FAM135A	57579	broad.mit.edu	37	chr6	71185436	71185436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcacagatggagattattCgtaagtagctaatcaattaa	7	6	2	2	rs149122763		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:71185436C>T	uc003pfj.2	+	5	501	c.368C>T	c.(367-369)TCG>TTG	p.S123L	FAM135A_uc003pfi.2_Missense_Mutation_p.S123L|FAM135A_uc003pfh.2_Missense_Mutation_p.S80L|FAM135A_uc003pfk.2_Missense_Mutation_p.S123L|FAM135A_uc003pfl.2_Missense_Mutation_p.L5F	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	123										central_nervous_system(1)	1						GGAGATTATTCGTAAGTAGCT	0.308													T	71185436	C	T	71185436	3	4	94	1	0	0	0	0	1	0	0	0	5448	898	31	1	382	1	FAM135A	6	71185436	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	685159	71185436	99929631	1226	60359											
DDX43	55510	broad.mit.edu	37	chr6	74117732	74117732	+	Frame_Shift_Del	DEL	A	A	-													atgaacaaatagaagagcttAaaaaaggtgtagatatcata							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:74117731_74117731TA>T	uc003pgw.3	+	8	1430	c.1086_1086TA>T	c.(1084-1086)cttfs	p.L362fs	DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	362	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TAGAAGAGCTTAAAAAAGGTG	0.323													-	74117732	A	-	74117732	7	5	94	1	0	1	0	1	0	0	0	0	4363	363	13	0	1121	0	DDX43	6	74117732	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	2932296	74117732	96997335	1227	60360											
C6orf150	115004	broad.mit.edu	37	chr6	74138519	74138519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcgatgtgagagaaggatAgccgccatgtttcttcttaa	10	7	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:74138519A>G	uc003pgx.1	-	4	1269	c.1130T>C	c.(1129-1131)CTA>CCA	p.L377P		NM_138441	NP_612450	Q8N884	M21D1_HUMAN	hypothetical protein LOC115004	377											0						AGAGAAGGATAGCCGCCATGT	0.338													G	74138519	A	G	74138519	3	3	94	1	0	0	0	0	1	0	0	0	2337	420	15	3	446	3	C6orf150	6	74138519	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	20787	74138519	96976548	1228	60361											
COL12A1	1303	broad.mit.edu	37	chr6	75851781	75851781	+	Frame_Shift_Del	DEL	C	C	-													agcagtcactggaggagactCcccctcgtcatgtactgcag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:75851781delC	uc003phs.2	-	27	5090	c.4924delG	c.(4924-4926)GAGfs	p.E1642fs	COL12A1_uc003pht.2_Frame_Shift_Del_p.E478fs	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1642	Fibronectin type-III 11.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GGAGGAGACTCCCCCTCGTCA	0.478													-	75851781	C	-	75851781	7	5	94	1	0	1	0	1	0	0	0	0	3669	864	30	0	4427	0	COL12A1	6	75851781	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	1713262	75851781	95263286	1229	60362											
SENP6	26054	broad.mit.edu	37	chr6	76405543	76405543	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggtgcttgaaaaactgaAgaaggaagacgctgaccgaa	12	7	0	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:76405543A>G	uc003pid.3	+	17	2718	c.2099A>G	c.(2098-2100)AAG>AGG	p.K700R	SENP6_uc003pie.3_Missense_Mutation_p.K693R|SENP6_uc010kbf.2_RNA	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6 isoform 1	700	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6		all_hematologic(105;0.189)				GAAAAACTGAAGAAGGAAGAC	0.264													G	76405543	A	G	76405543	3	3	94	1	0	0	0	0	1	0	0	0	14050	72	3	3	2165	3	SENP6	6	76405543	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	553762	76405543	94709524	1230	60363											
MYO6	4646	broad.mit.edu	37	chr6	76618318	76618318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatactgaaacagagcaacGtgctccaaagtctgttactg	8	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:76618318G>A	uc003pih.1	+	32	3665	c.3386G>A	c.(3385-3387)CGT>CAT	p.R1129H	MYO6_uc003pii.1_Missense_Mutation_p.R1106H|MYO6_uc003pij.1_Missense_Mutation_p.R86H	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1138					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		ACAGAGCAACGTGCTCCAAAG	0.348													A	76618318	G	A	76618318	3	1	94	1	0	0	0	0	1	0	0	0	10081	1145	40	1	3508	1	MYO6	6	76618318	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	212775	76618318	94496749	1231	60364											
DOPEY1	23033	broad.mit.edu	37	chr6	83839938	83839938	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagagtgttgctatttcacTagttatggacctggtgggac	12	7	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:83839938T>C	uc003pjs.1	+	17	2698	c.2438T>C	c.(2437-2439)CTA>CCA	p.L813P	DOPEY1_uc011dyy.1_Missense_Mutation_p.L804P|DOPEY1_uc010kbl.1_Missense_Mutation_p.L804P	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	813					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCTATTTCACTAGTTATGGAC	0.502													C	83839938	T	C	83839938	3	2	94	1	0	0	0	0	1	0	0	0	4707	1522	53	3	2496	3	DOPEY1	6	83839938	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	7221620	83839938	87275129	1232	60365											
DOPEY1	23033	broad.mit.edu	37	chr6	83839961	83839961	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatggacctggtgggactgAcacagtctgtggccatggtc	14	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:83839961A>G	uc003pjs.1	+	17	2721	c.2461A>G	c.(2461-2463)ACA>GCA	p.T821A	DOPEY1_uc011dyy.1_Missense_Mutation_p.T812A|DOPEY1_uc010kbl.1_Missense_Mutation_p.T812A	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	821					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGTGGGACTGACACAGTCTGT	0.488													G	83839961	A	G	83839961	3	3	94	1	0	0	0	0	1	0	0	0	4707	275	10	3	2519	3	DOPEY1	6	83839961	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	23	83839961	87275106	1233	60366											
CYB5R4	51167	broad.mit.edu	37	chr6	84603290	84603290	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtatcatcctggtggagaAgatgaactaatgagagcagc	13	6	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:84603290A>C	uc003pkf.2	+	3	411	c.279A>C	c.(277-279)GAA>GAC	p.E93D		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	93	Cytochrome b5 heme-binding.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(2)	2		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		CTGGTGGAGAAGATGAACTAA	0.383													C	84603290	A	C	84603290	3	2	94	1	0	0	0	0	1	0	0	0	4129	69	3	5	289	5	CYB5R4	6	84603290	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	763329	84603290	86511777	1234	60367											
KIAA1009	22832	broad.mit.edu	37	chr6	84895044	84895044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcctgagctcctaactgaCgcatataatccactctgggg	9	12	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:84895044C>T	uc010kbp.2	-	13	1621	c.1524G>A	c.(1522-1524)GCG>GCA	p.A508A	KIAA1009_uc003pkj.3_Silent_p.A432A|KIAA1009_uc003pkk.2_Silent_p.A508A|KIAA1009_uc003pki.3_5'UTR	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	508					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCCTAACTGACGCATATAATC	0.418													T	84895044	C	T	84895044	2	4	94	1	0	0	0	0	0	0	0	1	8203	523	19	1		1	KIAA1009	6	84895044	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	291754	84895044	86220023	1235	60368											
SYNCRIP	10492	broad.mit.edu	37	chr6	86324832	86324832	+	Frame_Shift_Del	DEL	C	C	-													gacctctggatggagcagcaCcccttgctcctctaccaccc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:86324831_86324831AC>A	uc003pla.2	-	10	2056	c.1515_1515GT>T	c.(1513-1515)ggtfs	p.G505fs	SYNCRIP_uc003pku.3_Frame_Shift_Del_p.G505fs|SYNCRIP_uc003pkv.3_Frame_Shift_Del_p.G505fs|SYNCRIP_uc003pkw.3_Frame_Shift_Del_p.G470fs|SYNCRIP_uc003pkx.3_Frame_Shift_Del_p.G353fs|SYNCRIP_uc003pky.3_Frame_Shift_Del_p.G407fs|SYNCRIP_uc003pkz.2_Frame_Shift_Del_p.G470fs	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein (SYNCRIP), transcript variant 1, mRNA.	505	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		ATGGAGCAGCACCCCTTGCTC	0.527													-	86324832	C	-	86324832	7	5	94	1	0	1	0	1	0	0	0	0	15441	507	18	0	407	0	SYNCRIP	6	86324832	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	1429788	86324832	84790235	1236	60369											
ZNF292	23036	broad.mit.edu	37	chr6	87970368	87970368	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgaaagaaaaaaaataatTtagaaaacaagaatgcaaag	6	3	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:87970368T>C	uc003plm.3	+	8	7062	c.7021T>C	c.(7021-7023)TTA>CTA	p.L2341L		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAAAAATAATTTAGAAAACAA	0.358													C	87970368	T	C	87970368	2	2	94	1	0	0	0	0	0	0	0	1	17823	1838	64	3		3	ZNF292	6	87970368	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1645536	87970368	83144699	1237	60370											
ZNF292	23036	broad.mit.edu	37	chr6	87970811	87970811	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaactaacagaattgttTattacaaaattaataaatga	5	3	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:87970811T>C	uc003plm.3	+	8	7505	c.7464T>C	c.(7462-7464)TTT>TTC	p.F2488F		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CAGAATTGTTTATTACAAAAT	0.308													C	87970811	T	C	87970811	2	2	94	1	0	0	0	0	0	0	0	1	17823	1751	61	3		3	ZNF292	6	87970811	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	443	87970811	83144256	1238	60371											
ZNF292	23036	broad.mit.edu	37	chr6	87970961	87970961	+	Frame_Shift_Del	DEL	T	T	-													agagttaataaggaaaaaaaTgtctcacaaaataaaaaaag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:87970961delT	uc003plm.3	+	8	7655	c.7614delT	c.(7612-7614)AATfs	p.N2538fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGGAAAAAAATGTCTCACAAA	0.348													-	87970961	T	-	87970961	7	5	94	1	0	1	0	1	0	0	0	0	17823	1461	51	0	7644	0	ZNF292	6	87970961	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	150	87970961	83144106	1239	60372											
C6orf162	57150	broad.mit.edu	37	chr6	88046852	88046852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcgcacaacaaccttatttCgtgctgtgaatccagagctc	8	12	0	2	rs138742161		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:88046852C>T	uc003plp.1	+	3	192	c.103C>T	c.(103-105)CGT>TGT	p.R35C	C6orf164_uc003plr.2_RNA|C6orf162_uc003plq.1_Missense_Mutation_p.R35C	NM_001042493	NP_001035958	Q96KF7	CF162_HUMAN	hypothetical protein LOC57150	35						integral to membrane					0		all_cancers(76;3.81e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.3e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0164)		AACCTTATTTCGTGCTGTGAA	0.433													T	88046852	C	T	88046852	3	4	94	1	0	0	0	0	1	0	0	0	2340	884	31	1	105	1	C6orf162	6	88046852	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	75891	88046852	83068215	1240	60373											
C6orf165	154313	broad.mit.edu	37	chr6	88173833	88173833	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaccctccaaaggacacTagcacccagtccatgaggga	10	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:88173833T>C	uc003plv.2	+	13	1826	c.1734T>C	c.(1732-1734)ACT>ACC	p.T578T	SLC35A1_uc003plx.2_RNA|C6orf165_uc003plw.2_Silent_p.T390T|C6orf165_uc010kbv.1_RNA	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	578										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		CAAAGGACACTAGCACCCAGT	0.483													C	88173833	T	C	88173833	2	2	94	1	0	0	0	0	0	0	0	1	2341	1509	53	3		3	C6orf165	6	88173833	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	126981	88173833	82941234	1241	60374											
GABRR2	2570	broad.mit.edu	37	chr6	89978860	89978860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagatcttcttcaccagccGgccatcgaaggtcatgctct	8	15	5	1	rs140140640	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:89978860G>A	uc003pnb.2	-	4	465	c.457C>T	c.(457-459)CGG>TGG	p.R153W	GABRR2_uc011dzx.1_Missense_Mutation_p.R29W	NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2	153	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TTCACCAGCCGGCCATCGAAG	0.517													A	89978860	G	A	89978860	3	1	94	1	0	0	0	0	1	0	0	0	6177	1115	39	1	1039	1	GABRR2	6	89978860	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1805027	89978860	81136207	1242	60375											
ANKRD6	22881	broad.mit.edu	37	chr6	90340549	90340549	+	Frame_Shift_Del	DEL	T	T	-													gctctggagcttacccagtaTttttttgaggctgtttctac							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:90340549delT	uc003pni.3	+	16	2351	c.2010delT	c.(2008-2010)TATfs	p.Y670fs	ANKRD6_uc003pne.3_Frame_Shift_Del_p.Y665fs|ANKRD6_uc003pnf.3_Frame_Shift_Del_p.Y635fs|ANKRD6_uc011dzy.1_Frame_Shift_Del_p.Y670fs|ANKRD6_uc010kcd.2_Frame_Shift_Del_p.Y606fs|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_Frame_Shift_Del_p.Y266fs|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.3_Frame_Shift_Del_p.Y266fs	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	670							protein binding			ovary(2)|pancreas(1)	3		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		TTACCCAGTATTTTTTTGAGG	0.537													-	90340549	T	-	90340549	7	5	94	1	0	1	0	1	0	0	0	0	685	1500	52	0	2053	0	ANKRD6	6	90340549	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	361689	90340549	80774518	1243	60376											
MDN1	23195	broad.mit.edu	37	chr6	90395561	90395561	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccctttccttcaacctGtggcatcagcaagacatgac	6	15	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:90395561G>A	uc003pnn.1	-	70	11820	c.11704C>T	c.(11704-11706)CAG>TAG	p.Q3902*		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3902					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCTTCAACCTGTGGCATCAGC	0.433													A	90395561	G	A	90395561	4	1	94	1	0	0	0	0	0	1	0	0	9415	1386	48	4	5218	4	MDN1	6	90395561	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	55012	90395561	80719506	1244	60377											
MDN1	23195	broad.mit.edu	37	chr6	90399785	90399785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaggagagctgggtttgtGcctgcttcctcttcttgccc	13	11	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:90399785G>A	uc003pnn.1	-	65	10943	c.10827C>T	c.(10825-10827)GGC>GGT	p.G3609G		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3609					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTGGGTTTGTGCCTGCTTCCT	0.453													A	90399785	G	A	90399785	2	1	94	1	0	0	0	0	0	0	0	1	9415	1306	46	2		2	MDN1	6	90399785	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4224	90399785	80715282	1245	60378											
MDN1	23195	broad.mit.edu	37	chr6	90438695	90438695	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaagggtatttcctgaagcCtttgctaatgctcccaccaa	7	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:90438695C>A	uc003pnn.1	-	36	5420	c.5304G>T	c.(5302-5304)AAG>AAT	p.K1768N		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1768					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCCTGAAGCCTTTGCTAATG	0.463													A	90438695	C	A	90438695	3	1	94	1	0	0	0	0	1	0	0	0	9415	680	24	5	11754	5	MDN1	6	90438695	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	38910	90438695	80676372	1246	60379											
CASP8AP2	9994	broad.mit.edu	37	chr6	90578753	90578754	+	Frame_Shift_Ins	INS	-	-	A													acttctacaagtctttctgcINSaaaaaatgttattaaaaaga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:90578753_90578754insA	uc003pnr.2	+	8	5940_5941	c.5744_5745insA	c.(5743-5745)GCAfs	p.A1915fs	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Frame_Shift_Ins_p.A1915fs|CASP8AP2_uc011dzz.1_Frame_Shift_Ins_p.A1915fs	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1915	NCOA2-binding.				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGTCTTTCTGCAAAAAATGTTA	0.386													A	90578754	-	A	90578753	7	5	94	1	0	1	1	0	0	0	0	0	2678	710	25	0	5770	0	CASP8AP2	6	90578753	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	140058	90578753	80536314	1247	60380	280	2									
CASP8AP2	9994	broad.mit.edu	37	chr6	90578754	90578755	+	Frame_Shift_Ins	INS	-	-	A													cttctacaagtctttctgcaINSaaaaatgttattaaaaagaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:90578753_90578754C>CA	uc003pnr.3	+	7	5940_5941	c.5744_5745C>CA	c.(5743-5745)gcafs	p.A1915fs	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Frame_Shift_Ins_p.A1915fs|CASP8AP2_uc011dzz.2_Frame_Shift_Ins_p.A1915fs	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	1915	NCOA2-binding.				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGTCTTTCTGCAAAAAATGTTA	0.386													A	90578755	-	A	90578754	7	5	94	1	0	1	1	0	0	0	0	0	2678	117	5	0	5771	0	CASP8AP2	6	90578754	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	90578754	80536313	1248	60381	280	2									
BACH2	60468	broad.mit.edu	37	chr6	90660304	90660304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaaggggggtgagcgaggGcagactttgattggtaccgg	18	7	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:90660304G>A	uc011eab.1	-	7	2330	c.1521C>T	c.(1519-1521)TGC>TGT	p.C507C	BACH2_uc003pnw.2_Silent_p.C507C|BACH2_uc010kch.2_Silent_p.C507C	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	507						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GTGAGCGAGGGCAGACTTTGA	0.657													A	90660304	G	A	90660304	2	1	94	1	0	0	0	0	0	0	0	1	1284	1195	42	2		2	BACH2	6	90660304	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	81550	90660304	80454763	1249	60382											
FHL5	9457	broad.mit.edu	37	chr6	97052743	97052743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgcctgctgtgcacggagTgctattctaacgagtgctcc	12	12	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:97052743T>C	uc003pos.1	+	4	682	c.277T>C	c.(277-279)TGC>CGC	p.C93R	FHL5_uc003pot.1_Missense_Mutation_p.C93R	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	activator of cAMP-responsive element modulator	93	LIM zinc-binding 1.					nucleus	zinc ion binding			ovary(2)	2		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		GTGCACGGAGTGCTATTCTAA	0.532													C	97052743	T	C	97052743	3	2	94	1	0	0	0	0	1	0	0	0	5881	1696	59	3	283	3	FHL5	6	97052743	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	6392439	97052743	74062324	1250	60383											
C6orf168	84553	broad.mit.edu	37	chr6	99739596	99739596	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctttgatcagccgttcGggtcttgtccctggtaaggt	12	10	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:99739596G>T	uc003ppj.3	-	5	1207	c.924C>A	c.(922-924)CCC>CCA	p.P308P	C6orf168_uc003ppi.3_Silent_p.P28P	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	hypothetical protein LOC84553	308										ovary(2)|central_nervous_system(1)	3		all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.073)		TCAGCCGTTCGGGTCTTGTCC	0.537													T	99739596	G	T	99739596	2	4	94	1	0	0	0	0	0	0	0	1	2343	1103	39	5		5	C6orf168	6	99739596	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2686853	99739596	71375471	1251	60384											
SFRS18	25957	broad.mit.edu	37	chr6	99849431	99849431	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttctcttgcttctagtAgtgataaactattttgctct	6	9	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:99849431A>G	uc003ppo.3	-	12	1631	c.1403T>C	c.(1402-1404)CTA>CCA	p.L468P	SFRS18_uc003ppl.2_Missense_Mutation_p.L14P|SFRS18_uc003ppp.3_Missense_Mutation_p.L468P|SFRS18_uc011eag.1_Missense_Mutation_p.L468P	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	468						nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		TGCTTCTAGTAGTGATAAACT	0.333													G	99849431	A	G	99849431	3	3	94	1	0	0	0	0	1	0	0	0	14174	420	15	3	1018	3	SFRS18	6	99849431	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	109835	99849431	71265636	1252	60385											
GRIK2	2898	broad.mit.edu	37	chr6	102503432	102503433	+	Frame_Shift_Ins	INS	-	-	A													agaatttttatacaaatccaINSaaaaaaacgctcaattggaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:102503431_102503432C>CA	uc003pqp.4	+	14	2831_2832	c.2538_2539C>CA	c.(2536-2541)tccaaafs	p.S846fs	GRIK2_uc010kcw.3_Frame_Shift_Ins_p.S846fs|GRIK2_uc003pqo.4_Frame_Shift_Ins_p.S846fs|GRIK2_uc021zdk.1_Frame_Shift_Ins_p.S659fs|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	846					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.N849fs*12(1)|p.N849fs*14(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TATACAAATCCAAAAAAAACGC	0.351													A	102503433	-	A	102503432	7	5	94	1	0	1	1	0	0	0	0	0	6774	131	5	0	2597	0	GRIK2	6	102503432	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	2654001	102503432	68611635	1253	60386											
BEND3	57673	broad.mit.edu	37	chr6	107390110	107390110	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcaagccccggaatggTtgtactgcagccggaggttc	14	10	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:107390110T>C	uc003prs.2	-	5	2935	c.2285A>G	c.(2284-2286)AAC>AGC	p.N762S		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	762	BEN 4.									ovary(3)	3						CCCGGAATGGTTGTACTGCAG	0.632													C	107390110	T	C	107390110	3	2	94	1	0	0	0	0	1	0	0	0	1399	1725	60	3	205	3	BEND3	6	107390110	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	4886678	107390110	63724957	1254	60387											
BEND3	57673	broad.mit.edu	37	chr6	107390608	107390608	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcccagggagccgctgcagTtgtactgcttgcgcaggttc	14	12	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:107390608T>C	uc003prs.2	-	5	2437	c.1787A>G	c.(1786-1788)AAC>AGC	p.N596S		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	596	BEN 3.			N -> S (in Ref. 2; AAI31629).						ovary(3)	3						GCCGCTGCAGTTGTACTGCTT	0.627													C	107390608	T	C	107390608	3	2	94	1	0	0	0	0	1	0	0	0	1399	1725	60	3	703	3	BEND3	6	107390608	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	498	107390608	63724459	1255	60388											
BEND3	57673	broad.mit.edu	37	chr6	107391602	107391602	+	Frame_Shift_Del	DEL	C	C	-													cagcaagcggcaggccaggtCcccccctgacaggctctggt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:107391602delC	uc003prs.2	-	5	1443	c.793delG	c.(793-795)GACfs	p.D265fs		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	265	BEN 1.									ovary(3)	3						CAGGCCAGGTCCCCCCCTGAC	0.652													-	107391602	C	-	107391602	7	5	94	1	0	1	0	1	0	0	0	0	1399	855	30	0	1697	0	BEND3	6	107391602	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	994	107391602	63723465	1256	60389											
SCML4	256380	broad.mit.edu	37	chr6	108066261	108066261	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcacaggaggcttcggcacaGcttggcgaggaagcggagga	18	9	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:108066261G>C	uc010kdf.2	-	5	825	c.574C>G	c.(574-576)CTG>GTG	p.L192V	SCML4_uc003prz.3_Missense_Mutation_p.L134V|SCML4_uc011eam.1_Missense_Mutation_p.L192V|SCML4_uc003psa.3_Missense_Mutation_p.L163V	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		CTTCGGCACAGCTTGGCGAGG	0.592													C	108066261	G	C	108066261	3	2	94	1	0	0	0	0	1	0	0	0	13911	962	34	5	686	5	SCML4	6	108066261	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	674659	108066261	63048806	1257	60390											
NR2E1	7101	broad.mit.edu	37	chr6	108508599	108508600	+	Frame_Shift_Ins	INS	-	-	A													tatagaagaagtgtttttcaINSaaaaaaccatcggcaatgtg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:108508598_108508599C>CA	uc003psg.3	+	8	1844_1845	c.1089_1090C>CA	c.(1087-1092)ttcaaafs	p.F363fs		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 1 (NR2E1), mRNA.	363	Required for transcriptional repression (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		AAGTGTTTTTCAAAAAAACCAT	0.406													A	108508600	-	A	108508599	7	5	94	1	0	1	1	0	0	0	0	0	10625	131	5	0	1124	0	NR2E1	6	108508599	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	442338	108508599	62606468	1258	60391											
MICAL1	64780	broad.mit.edu	37	chr6	109774467	109774467	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagcatagaaatacttaccCttcctaggagggggctggag	14	8	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:109774467C>A	uc003ptj.2	-	3	824	c.570G>T	c.(568-570)AAG>AAT	p.K190N	MICAL1_uc003ptk.2_Missense_Mutation_p.K190N|MICAL1_uc010kdr.2_Missense_Mutation_p.K190N|MICAL1_uc011eaq.1_Missense_Mutation_p.K209N	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	190					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AATACTTACCCTTCCTAGGAG	0.522													A	109774467	C	A	109774467	3	1	94	1	0	0	0	0	1	0	0	0	9569	695	24	5	2721	5	MICAL1	6	109774467	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1265868	109774467	61340600	1259	60392											
ZBTB24	9841	broad.mit.edu	37	chr6	109802745	109802745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactttttttggtcttcccCgtttccgctttggaggatcg	10	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:109802745C>T	uc003ptl.1	-	2	653	c.485G>A	c.(484-486)CGG>CAG	p.R162Q	ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.R162Q|ZBTB24_uc010kdt.1_RNA|ZBTB24_uc003ptm.2_Missense_Mutation_p.R162Q	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24 isoform	162	A.T hook.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGGTCTTCCCCGTTTCCGCTT	0.413													T	109802745	C	T	109802745	3	4	94	1	0	0	0	0	1	0	0	0	17528	652	23	1	1682	1	ZBTB24	6	109802745	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	28278	109802745	61312322	1260	60393											
AKD1	221264	broad.mit.edu	37	chr6	109983847	109983847	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatcctgtgaaagtgatggTatttcagtgataatataacc	9	6	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:109983847T>C	uc003ptn.2	-	6	428	c.351A>G	c.(349-351)ATA>ATG	p.I117M	AKD1_uc003ptr.3_Missense_Mutation_p.I117M|AKD1_uc003pts.1_RNA	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	117					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						AAAGTGATGGTATTTCAGTGA	0.239													C	109983847	T	C	109983847	3	2	94	1	0	0	0	0	1	0	0	0	460	1628	57	3	5540	3	AKD1	6	109983847	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	181102	109983847	61131220	1261	60394											
WASF1	8936	broad.mit.edu	37	chr6	110423373	110423373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaacacaggtgttctgcCtgtagctggtgactgagggc	13	10	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:110423373C>T	uc003ptv.1	-	10	1777	c.940G>A	c.(940-942)GGC>AGC	p.G314S	WASF1_uc003ptw.1_Missense_Mutation_p.G314S|WASF1_uc003ptx.1_Missense_Mutation_p.G314S|WASF1_uc003pty.1_Missense_Mutation_p.G314S	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Wiskott-Aldrich syndrome protein family member	314					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding				0		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GGTGTTCTGCCTGTAGCTGGT	0.453													T	110423373	C	T	110423373	3	4	94	1	0	0	0	0	1	0	0	0	17249	681	24	4	747	4	WASF1	6	110423373	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	439526	110423373	60691694	1262	60395											
GTF3C6	112495	broad.mit.edu	37	chr6	111288882	111288882	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgacagttcaaacctgagTtgtgaacaggagaaaccaat	9	8	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:111288882T>C	uc003pum.2	+	6	741	c.531T>C	c.(529-531)AGT>AGC	p.S177S		NM_138408	NP_612417	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide	177						transcription factor TFIIIC complex	DNA binding|protein binding				0		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		CAAACCTGAGTTGTGAACAGG	0.383													C	111288882	T	C	111288882	2	2	94	1	0	0	0	0	0	0	0	1	6877	1722	60	3		3	GTF3C6	6	111288882	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	865509	111288882	59826185	1263	60396											
REV3L	5980	broad.mit.edu	37	chr6	111688632	111688632	+	Frame_Shift_Del	DEL	G	G	-													ggggaattactggagaatcaGgggagctataactaatgtaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:111688632delG	uc003puy.3	-	14	6682	c.6359delC	c.(6358-6360)CCTfs	p.P2120fs	REV3L_uc003pux.3_Frame_Shift_Del_p.P2042fs|REV3L_uc003puz.3_Frame_Shift_Del_p.P2042fs|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2120					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGGAGAATCAGGGGAGCTATA	0.443								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					-	111688632	G	-	111688632	7	5	94	1	0	1	0	1	0	0	0	0	13240	1000	35	0	3109	0	REV3L	6	111688632	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	399750	111688632	59426435	1264	60397											
REV3L	5980	broad.mit.edu	37	chr6	111697073	111697073	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttttattcaattttaaccGggatggtttattgccaggtt	8	7	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:111697073G>T	uc003puy.3	-	13	2808	c.2485C>A	c.(2485-2487)CGG>AGG	p.R829R	REV3L_uc003pux.3_Silent_p.R751R|REV3L_uc003puz.3_Silent_p.R751R	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	829					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AATTTTAACCGGGATGGTTTA	0.348								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	111697073	G	T	111697073	2	4	94	1	0	0	0	0	0	0	0	1	13240	1115	39	5		5	REV3L	6	111697073	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	8441	111697073	59417994	1265	60398											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111884186	111884186	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accttcttagcatttgggaaGagcacagggatgaatctgaa	11	7	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:111884186G>A	uc011ebc.1	-	9	2148	c.1533C>T	c.(1531-1533)CTC>CTT	p.L511L	TRAF3IP2_uc011ebb.1_Silent_p.L55L|TRAF3IP2_uc003pvd.2_Silent_p.L103L|TRAF3IP2_uc003pvg.2_Silent_p.L510L|TRAF3IP2_uc003pvf.2_Silent_p.L511L	NM_147686	NP_679211	O43734	CIKS_HUMAN	TRAF3 interacting protein 2 isoform 2	520	SEFIR.				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				ovary(2)|central_nervous_system(1)	3		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CATTTGGGAAGAGCACAGGGA	0.348													A	111884186	G	A	111884186	2	1	94	1	0	0	0	0	0	0	0	1	16438	929	33	4		4	TRAF3IP2	6	111884186	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	187113	111884186	59230881	1266	60399											
LAMA4	3910	broad.mit.edu	37	chr6	112461980	112461980	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accttgaagttggaaggcacTccaccaacataaaacactgt	7	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:112461980T>A	uc003pvu.2	-	22	3267	c.2958A>T	c.(2956-2958)GGA>GGT	p.G986G	LAMA4_uc003pvv.2_Silent_p.G979G|LAMA4_uc003pvt.2_Silent_p.G979G	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	986	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGGAAGGCACTCCACCAACAT	0.408													A	112461980	T	A	112461980	2	1	94	1	0	0	0	0	0	0	0	1	8608	1538	54	5		5	LAMA4	6	112461980	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	577794	112461980	58653087	1267	60400											
LAMA4	3910	broad.mit.edu	37	chr6	112461999	112461999	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctccaccaacataaaacactGtgtcctcagggtccaggtcc	7	15	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:112461999G>C	uc003pvu.2	-	22	3248	c.2939C>G	c.(2938-2940)ACA>AGA	p.T980R	LAMA4_uc003pvv.2_Missense_Mutation_p.T973R|LAMA4_uc003pvt.2_Missense_Mutation_p.T973R	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	980	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATAAAACACTGTGTCCTCAGG	0.413													C	112461999	G	C	112461999	3	2	94	1	0	0	0	0	1	0	0	0	8608	1377	48	5	2604	5	LAMA4	6	112461999	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	19	112461999	58653068	1268	60401											
LAMA4	3910	broad.mit.edu	37	chr6	112512907	112512907	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgttcacacttgaatccggTggtgttgcgtaagcaattcc	10	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:112512907T>C	uc003pvu.2	-	6	958	c.649A>G	c.(649-651)ACC>GCC	p.T217A	LAMA4_uc003pvv.2_Missense_Mutation_p.T217A|LAMA4_uc003pvt.2_Missense_Mutation_p.T217A	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	217	Laminin EGF-like 3.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTGAATCCGGTGGTGTTGCGT	0.483													C	112512907	T	C	112512907	3	2	94	1	0	0	0	0	1	0	0	0	8608	1696	59	3	4958	3	LAMA4	6	112512907	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	50908	112512907	58602160	1269	60402											
MARCKS	4082	broad.mit.edu	37	chr6	114181628	114181628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgggcccggcgcgccccCggagcaggaggcagcccccg	17	20	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:114181628C>T	uc003pvy.3	+	2	1267	c.872C>T	c.(871-873)CCG>CTG	p.P291L		NM_002356	NP_002347	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C	291				PGAPPEQEAAPAEEPAAAAASS -> LVCPRRGGSPRGGAR GRRSLNQ (in Ref. 1; AAA59555).	energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding				0		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		ggcgcgcccccggAGCAGGAG	0.498													T	114181628	C	T	114181628	3	4	94	1	0	0	0	0	1	0	0	0	9309	652	23	1	878	1	MARCKS	6	114181628	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1668721	114181628	56933439	1270	60403											
NT5DC1	221294	broad.mit.edu	37	chr6	116542304	116542304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctgtgaaaaaatggcttcGacagctaaagaatgctggga	11	6	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:116542304G>A	uc003pwj.2	+	7	712	c.617G>A	c.(616-618)CGA>CAA	p.R206Q	NT5DC1_uc003pwk.2_Missense_Mutation_p.R198Q|NT5DC1_uc003pwl.2_Missense_Mutation_p.R156Q	NM_152729	NP_689942	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase, cytosolic II-like 1 protein	206							hydrolase activity|metal ion binding				0		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AAATGGCTTCGACAGCTAAAG	0.343													A	116542304	G	A	116542304	3	1	94	1	0	0	0	0	1	0	0	0	10690	1058	37	1	643	1	NT5DC1	6	116542304	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2360676	116542304	54572763	1271	60404											
DSE	29940	broad.mit.edu	37	chr6	116758093	116758093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgctataaatttgtggatgCtgtccctgatatttttgcac	8	8	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:116758093C>T	uc003pws.2	+	6	2656	c.2462C>T	c.(2461-2463)GCT>GTT	p.A821V	DSE_uc011ebg.1_Missense_Mutation_p.A840V|DSE_uc003pwt.2_Missense_Mutation_p.A821V|DSE_uc003pwu.2_Missense_Mutation_p.A488V	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN	dermatan sulfate epimerase precursor	821					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			ovary(1)	1		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTTGTGGATGCTGTCCCTGAT	0.408													T	116758093	C	T	116758093	3	4	94	1	0	0	0	0	1	0	0	0	4774	797	28	2	2480	2	DSE	6	116758093	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	215789	116758093	54356974	1272	60405											
FAM26D	221301	broad.mit.edu	37	chr6	116879011	116879011	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggttggattttgatcacCttggcaaccattgctgcctt	10	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:116879011C>A	uc003pxa.2	+	4	452	c.153C>A	c.(151-153)ACC>ACA	p.T51T	FAM26D_uc003pwz.2_Silent_p.T8T|FAM26D_uc010ked.2_Silent_p.T50T	NM_153036	NP_694581	Q5JW98	FA26D_HUMAN	hypothetical protein LOC221301	194	Helical; (Potential).					integral to membrane					0		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		TTTTGATCACCTTGGCAACCA	0.473													A	116879011	C	A	116879011	2	1	94	1	0	0	0	0	0	0	0	1	5549	668	24	5		5	FAM26D	6	116879011	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	120918	116879011	54236056	1273	60406											
FAM184A	79632	broad.mit.edu	37	chr6	119327663	119327663	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttaggctgtctttagtcaaGtcaagctcattctgaagcct	8	9	5	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:119327663G>T	uc003pyj.2	-	7	2112	c.1764C>A	c.(1762-1764)GAC>GAA	p.D588E	FAM184A_uc003pyk.3_Missense_Mutation_p.D468E|FAM184A_uc003pyl.3_Missense_Mutation_p.D468E	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	588	Potential.									ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						CTTTAGTCAAGTCAAGCTCAT	0.403													T	119327663	G	T	119327663	3	4	94	1	0	0	0	0	1	0	0	0	5511	1020	36	5	1706	5	FAM184A	6	119327663	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2448652	119327663	51787404	1274	60407											
C6orf170	221322	broad.mit.edu	37	chr6	121434207	121434207	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatatactcaaaaaggataTgaagagaagattttatggaa	9	2	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:121434207T>C	uc003pyo.1	-	28	3237	c.3169_splice	c.e28+1	p.L1057_splice		NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322						multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		AAAAAGGATATGAAGAGAAGA	0.303													C	121434207	T	C	121434207	5	2	94	1	0	0	0	0	0	0	1	0	2344	1478	51	3	623	3	C6orf170	6	121434207	Splice_Site	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2106544	121434207	49680860	1275	60408											
HSF2	3298	broad.mit.edu	37	chr6	122733884	122733884	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaacaaggacaggatgActtgttggagaacattaaaa	9	6	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:122733884A>G	uc003pyu.2	+	3	492	c.305A>G	c.(304-306)GAC>GGC	p.D102G	HSF2_uc003pyt.3_Missense_Mutation_p.D102G|HSF2_uc003pyv.2_Missense_Mutation_p.D102G	NM_004506	NP_004497	Q03933	HSF2_HUMAN	heat shock transcription factor 2 isoform a	102	By similarity.				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		GGACAGGATGACTTGTTGGAG	0.403													G	122733884	A	G	122733884	3	3	94	1	0	0	0	0	1	0	0	0	7396	275	10	3	315	3	HSF2	6	122733884	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1299677	122733884	48381183	1276	60409											
TRDN	10345	broad.mit.edu	37	chr6	123824907	123824907	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgctttctctttgtcctcCttttctttgggttttgatgg	9	9	2	1	rs138912040	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:123824907C>A	uc003pzj.1	-	8	772	c.750G>T	c.(748-750)AAG>AAT	p.K250N	TRDN_uc003pzk.1_Missense_Mutation_p.K250N|TRDN_uc003pzl.1_Missense_Mutation_p.K250N|TRDN_uc010ken.2_Missense_Mutation_p.K250N	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	250	Lumenal.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)		CTTTGTCCTCCTTTTCTTTGG	0.418													A	123824907	C	A	123824907	3	1	94	1	0	0	0	0	1	0	0	0	16465	680	24	5	1575	5	TRDN	6	123824907	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1091023	123824907	47290160	1277	60410											
NCOA7	135112	broad.mit.edu	37	chr6	126242091	126242091	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttgttttctcatttcagatCatcactgttgaagaggcaaa	7	8	4	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:126242091C>A	uc010kes.2	+	14	2696	c.2247C>A	c.(2245-2247)ATC>ATA	p.I749I	NCOA7_uc003qae.3_Silent_p.I749I|NCOA7_uc003qah.2_Silent_p.I738I|NCOA7_uc003qai.2_Silent_p.I749I|NCOA7_uc010ket.2_Silent_p.I634I|NCOA7_uc003qak.2_Silent_p.I26I	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	749					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CATTTCAGATCATCACTGTTG	0.463													A	126242091	C	A	126242091	2	1	94	1	0	0	0	0	0	0	0	1	10234	816	29	5		5	NCOA7	6	126242091	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2417184	126242091	44872976	1278	60411											
RSPO3	84870	broad.mit.edu	37	chr6	127440263	127440263	+	Translation_Start_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatacgcctaacacctacatAtattttaaaaacattaaata	1	8	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:127440263A>G	uc003qar.2	+	1	216	c.-74A>G	c.(-76--72)ATATA>ATGTA		uc003qaq.1_Intron|RSPO3_uc003qas.1_Translation_Start_Site	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	R-spondin 3 precursor							extracellular region	heparin binding				0				GBM - Glioblastoma multiforme(226;0.0555)		ACACCTACatatattttaaaa	0.443													G	127440263	A	G	127440263	1	3	94	1	0	0	0	0	0	0	0	0	13711	464	16	3		3	RSPO3	6	127440263	Translation_Start_Site	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1198172	127440263	43674804	1279	60412											
PTPRK	5796	broad.mit.edu	37	chr6	128388839	128388839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtgcacccccactcatgGcattttggtatgtgacagga	11	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:128388839G>A	uc003qbk.2	-	12	2349	c.1982C>T	c.(1981-1983)GCC>GTC	p.A661V	PTPRK_uc003qbj.2_Missense_Mutation_p.A661V|PTPRK_uc010kfc.2_Missense_Mutation_p.A661V|PTPRK_uc011ebu.1_Missense_Mutation_p.A661V|PTPRK_uc003qbl.1_Missense_Mutation_p.A531V|PTPRK_uc011ebv.1_Missense_Mutation_p.A661V	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	661	Extracellular (Potential).|Fibronectin type-III 4.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCCACTCATGGCATTTTGGTA	0.537													A	128388839	G	A	128388839	3	1	94	1	0	0	0	0	1	0	0	0	12805	1203	42	2	2438	2	PTPRK	6	128388839	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	948576	128388839	42726228	1280	60413											
PTPRK	5796	broad.mit.edu	37	chr6	128399981	128399981	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataggagcacctttggcttgTgctggtctcaacaatacagt	10	9	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:128399981T>C	uc003qbk.2	-	11	2227	c.1860A>G	c.(1858-1860)GCA>GCG	p.A620A	PTPRK_uc003qbj.2_Silent_p.A620A|PTPRK_uc010kfc.2_Silent_p.A620A|PTPRK_uc011ebu.1_Silent_p.A620A|PTPRK_uc003qbl.1_Silent_p.A490A|PTPRK_uc011ebv.1_Silent_p.A620A	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	620	Extracellular (Potential).|Fibronectin type-III 4.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTTTGGCTTGTGCTGGTCTCA	0.299													C	128399981	T	C	128399981	2	2	94	1	0	0	0	0	0	0	0	1	12805	1683	59	3		3	PTPRK	6	128399981	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	11142	128399981	42715086	1281	60414											
LAMA2	3908	broad.mit.edu	37	chr6	129608990	129608990	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgaaatttcttgccttAggtgtgcagaaggctatttt	10	6	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:129608990A>G	uc003qbn.2	+	19	2643	c.2538_splice	c.e19-2	p.R846_splice	LAMA2_uc003qbo.2_Splice_Site_p.R846_splice	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor						cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTCTTGCCTTAGGTGTGCAGA	0.483													G	129608990	A	G	129608990	5	3	94	1	0	0	0	0	0	0	1	0	8606	434	15	3	2610	3	LAMA2	6	129608990	Splice_Site	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1209009	129608990	41506077	1282	60415											
EPB41L2	2037	broad.mit.edu	37	chr6	131206353	131206353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccataggctgaaatctcCccagcagcgccaggaaaatc	10	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:131206353C>T	uc003qch.2	-	12	1898	c.1716G>A	c.(1714-1716)GGG>GGA	p.G572G	EPB41L2_uc003qce.1_5'Flank|EPB41L2_uc003qcf.1_5'Flank|EPB41L2_uc003qcg.1_Silent_p.G572G|EPB41L2_uc011eby.1_Silent_p.G572G|EPB41L2_uc003qci.2_Silent_p.G572G|EPB41L2_uc010kfk.2_Silent_p.G572G|EPB41L2_uc010kfl.1_Silent_p.G572G	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	572	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTGAAATCTCCCCAGCAGCGC	0.478											OREG0017660	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	131206353	C	T	131206353	2	4	94	1	0	0	0	0	0	0	0	1	5153	610	22	4		4	EPB41L2	6	131206353	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1597363	131206353	39908714	1283	60416											
MED23	9439	broad.mit.edu	37	chr6	131912629	131912629	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagctggggctgctgatgacActcacaattcgatcatgaag	11	9	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:131912629A>G	uc003qcs.1	-	26	3684	c.3510T>C	c.(3508-3510)AGT>AGC	p.S1170S	MED23_uc003qcq.2_Silent_p.S1176S|MED23_uc003qcr.1_Silent_p.S25S	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	1170					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TGCTGATGACACTCACAATTC	0.448													G	131912629	A	G	131912629	2	3	94	1	0	0	0	0	0	0	0	1	9441	156	6	3		3	MED23	6	131912629	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	706276	131912629	39202438	1284	60417											
OR2A4	79541	broad.mit.edu	37	chr6	132022490	132022490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctgaatccttgggccaaCgggaaatcccagtaggagga	12	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:132022490C>T	uc011ecd.1	-	1	52	c.52G>A	c.(52-54)GTT>ATT	p.V18I	ENPP3_uc003qcu.3_Intron|ENPP3_uc010kfq.2_Intron|ENPP3_uc003qcv.2_Intron	NM_030908	NP_112170	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		CTTGGGCCAACGGGAAATCCC	0.493													T	132022490	C	T	132022490	3	4	94	1	0	0	0	0	1	0	0	0	10979	536	19	1	883	1	OR2A4	6	132022490	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	109861	132022490	39092577	1285	60418											
CTGF	1490	broad.mit.edu	37	chr6	132270418	132270418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcttcatgccatgtctcCgtacatcttcctgtagtaca	7	13	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:132270418C>T	uc003qcz.2	-	5	1242	c.1036G>A	c.(1036-1038)GGA>AGA	p.G346R		NM_001901	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor precursor	346	Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding				0	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GCCATGTCTCCGTACATCTTC	0.418													T	132270418	C	T	132270418	3	4	94	1	0	0	0	0	1	0	0	0	4008	661	23	1	17	1	CTGF	6	132270418	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	247928	132270418	38844649	1286	60419											
CTGF	1490	broad.mit.edu	37	chr6	132270441	132270441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatcttcctgtagtacagcGattcaaagatgtcattgtct	7	9	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:132270441G>A	uc003qcz.2	-	5	1219	c.1013C>T	c.(1012-1014)TCG>TTG	p.S338L		NM_001901	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor precursor	338	Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding				0	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GTAGTACAGCGATTCAAAGAT	0.448													A	132270441	G	A	132270441	3	1	94	1	0	0	0	0	1	0	0	0	4008	1059	37	1	40	1	CTGF	6	132270441	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	23	132270441	38844626	1287	60420											
TAAR5	9038	broad.mit.edu	37	chr6	132910558	132910558	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactgagcgaatggtgctgaGgggcagcaccagcagaccca	14	12	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:132910558G>T	uc003qdk.2	-	1	320	c.268C>A	c.(268-270)CTC>ATC	p.L90I		NM_003967	NP_003958	O14804	TAAR5_HUMAN	trace amine associated receptor 5	90	Helical; Name=2; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		ATGGTGCTGAGGGGCAGCACC	0.587													T	132910558	G	T	132910558	3	4	94	1	0	0	0	0	1	0	0	0	15488	1000	35	5	749	5	TAAR5	6	132910558	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	640117	132910558	38204509	1288	60421											
EYA4	2070	broad.mit.edu	37	chr6	133783831	133783831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtccccattacagagtgGctgcctcagttacagcccag	9	14	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:133783831G>A	uc003qec.3	+	9	1111	c.653G>A	c.(652-654)GGC>GAC	p.G218D	EYA4_uc011ecq.1_Missense_Mutation_p.G164D|EYA4_uc011ecr.1_Missense_Mutation_p.G164D|EYA4_uc003qed.3_Missense_Mutation_p.G218D|EYA4_uc003qee.3_Missense_Mutation_p.G195D|EYA4_uc011ecs.1_Missense_Mutation_p.G218D|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	218					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TTACAGAGTGGCTGCCTCAGT	0.468													A	133783831	G	A	133783831	3	1	94	1	0	0	0	0	1	0	0	0	5331	1203	42	2	683	2	EYA4	6	133783831	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	873273	133783831	37331236	1289	60422											
IL20RA	53832	broad.mit.edu	37	chr6	137323176	137323176	+	Frame_Shift_Del	DEL	G	G	-													attcaatgactgttttatccGggggtattgttctgctgagg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:137323175_137323175CG>C	uc003qhj.3	-	6	1615	c.1182_1182CG>G	c.(1180-1182)ccgfs	p.P394fs	IL20RA_uc011edl.2_Frame_Shift_Del_p.P345fs|IL20RA_uc003qhk.3_Frame_Shift_Del_p.P283fs|IL20RA_uc003qhi.3_Frame_Shift_Del_p.P126fs	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	394						integral to membrane	receptor activity	p.P394L(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CTGTTTTATCCGGGGGTATTG	0.468													-	137323176	G	-	137323176	7	5	94	1	0	1	0	1	0	0	0	0	7668	1116	39	0	484	0	IL20RA	6	137323176	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	3539345	137323176	33791891	1290	60423											
TNFAIP3	7128	broad.mit.edu	37	chr6	138197238	138197238	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaatgctacagataccCcattgttctcggctatgaca	8	12	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:138197238C>A	uc003qhr.2	+	5	806	c.740C>A	c.(739-741)CCC>CAC	p.P247H	TNFAIP3_uc003qhs.2_Missense_Mutation_p.P247H	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	247	TRAF-binding.|OTU.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(22)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TACAGATACCCCATTGTTCTC	0.468			D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma								A	138197238	C	A	138197238	3	1	94	1	0	0	0	0	1	0	0	0	16271	623	22	5	754	5	TNFAIP3	6	138197238	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	874062	138197238	32917829	1291	60424											
HIVEP2	3097	broad.mit.edu	37	chr6	143093049	143093049	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctccatatctgcaagtcGcagacgcttctttttgggtg	11	10	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:143093049G>A	uc003qjd.2	-	5	3570	c.2827C>T	c.(2827-2829)CGA>TGA	p.R943*		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	943	Nuclear localization signal (Potential).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCTGCAAGTCGCAGACGCTTC	0.572													A	143093049	G	A	143093049	4	1	94	1	0	0	0	0	0	1	0	0	7187	1095	38	1	4537	1	HIVEP2	6	143093049	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4895811	143093049	28022018	1292	60425											
PHACTR2	9749	broad.mit.edu	37	chr6	144086872	144086872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctttgggctgaagagcCgacgaacagaaccactctct	10	12	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:144086872C>T	uc003qjq.3	+	6	1266	c.1136C>T	c.(1135-1137)CCG>CTG	p.P379L	PHACTR2_uc010khh.2_Missense_Mutation_p.P299L|PHACTR2_uc010khi.2_Missense_Mutation_p.P390L|PHACTR2_uc003qjr.3_Missense_Mutation_p.P310L	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	379							actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GCTGAAGAGCCGACGAACAGA	0.498													T	144086872	C	T	144086872	3	4	94	1	0	0	0	0	1	0	0	0	11810	652	23	1	1208	1	PHACTR2	6	144086872	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	993823	144086872	27028195	1293	60426											
UTRN	7402	broad.mit.edu	37	chr6	144803436	144803436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaaggtgccctctggtgGccaggagttgacgtctgagc	15	11	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:144803436G>A	uc003qkt.2	+	26	3691	c.3599G>A	c.(3598-3600)GGC>GAC	p.G1200D		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1200	Spectrin 8.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCCTCTGGTGGCCAGGAGTTG	0.458													A	144803436	G	A	144803436	3	1	94	1	0	0	0	0	1	0	0	0	17100	1203	42	2	3701	2	UTRN	6	144803436	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	716564	144803436	26311631	1294	60427											
SASH1	23328	broad.mit.edu	37	chr6	148840732	148840732	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtcctggatgaacggtcCgccctctactctggcgtgca	12	15	2	1	rs111245321		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:148840732C>T	uc003qme.1	+	10	1387	c.912C>T	c.(910-912)TCC>TCT	p.S304S	SASH1_uc011eeb.1_Silent_p.S65S	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	304							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ATGAACGGTCCGCCCTCTACT	0.537													T	148840732	C	T	148840732	2	4	94	1	0	0	0	0	0	0	0	1	13848	639	23	1		1	SASH1	6	148840732	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4037296	148840732	22274335	1295	60428											
SASH1	23328	broad.mit.edu	37	chr6	148865778	148865778	+	Frame_Shift_Del	DEL	C	C	-													gcccaccaagcacaaggccgCccccctggctctcagagctc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:148865778delC	uc003qme.1	+	18	3647	c.3172delC	c.(3172-3174)CCCfs	p.P1058fs	SASH1_uc011eeb.1_Frame_Shift_Del_p.P819fs|SASH1_uc003qmf.1_Frame_Shift_Del_p.P468fs	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1058	Pro-rich.						protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CACAAGGCCGCCCCCCTGGCT	0.697													-	148865778	C	-	148865778	7	5	94	1	0	1	0	1	0	0	0	0	13848	739	26	0	3242	0	SASH1	6	148865778	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	25046	148865778	22249289	1296	60429											
UST	10090	broad.mit.edu	37	chr6	149262500	149262500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgcttctgagaatcttgtCggagaagcacggatttaatt	10	7	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:149262500C>T	uc003qmg.2	+	3	673	c.377C>T	c.(376-378)TCG>TTG	p.S126L		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	126	Lumenal (Potential).				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		AGAATCTTGTCGGAGAAGCAC	0.428													T	149262500	C	T	149262500	3	4	94	1	0	0	0	0	1	0	0	0	17090	893	31	1	387	1	UST	6	149262500	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	396722	149262500	21852567	1297	60430											
PPIL4	85313	broad.mit.edu	37	chr6	149826728	149826728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tataatggccatccctctctCgagatcggctacgacttcgg	9	13	1	1	rs146098079		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:149826728C>T	uc003qmo.1	-	13	1370	c.1340G>A	c.(1339-1341)CGA>CAA	p.R447Q	PPIL4_uc010kic.2_Intron	NM_139126	NP_624311	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase-like 4	447					protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		ATCCCTCTCTCGAGATCGGCT	0.408													T	149826728	C	T	149826728	3	4	94	1	0	0	0	0	1	0	0	0	12329	884	31	1	142	1	PPIL4	6	149826728	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	564228	149826728	21288339	1298	60431											
KATNA1	11104	broad.mit.edu	37	chr6	149918221	149918221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacacgttggtaatgtccgCacctgaataaccttccatgt	8	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:149918221C>T	uc003qmr.1	-	9	1300	c.1255G>A	c.(1255-1257)GCG>ACG	p.A419T	KATNA1_uc003qms.2_Missense_Mutation_p.A419T|KATNA1_uc003qmt.2_Intron	NM_007044	NP_008975	O75449	KTNA1_HUMAN	katanin p60 subunit A 1	419					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			skin(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		GTAATGTCCGCACCTGAATAA	0.363													T	149918221	C	T	149918221	3	4	94	1	0	0	0	0	1	0	0	0	7984	710	25	2	228	2	KATNA1	6	149918221	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	91493	149918221	21196846	1299	60432											
PCMT1	5110	broad.mit.edu	37	chr6	150114765	150114765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaataatgtcaggaaggaCgatccaacacttctgtcttc	8	9	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:150114765C>T	uc003qne.2	+	5	585	c.552C>T	c.(550-552)GAC>GAT	p.D184D	PCMT1_uc003qna.2_Silent_p.D184D|PCMT1_uc003qnb.2_Silent_p.D184D|PCMT1_uc011eeg.1_Silent_p.D149D|PCMT1_uc003qnc.2_Silent_p.D63D|PCMT1_uc003qnd.2_Silent_p.D149D|PCMT1_uc003qnf.2_Silent_p.D149D	NM_005389	NP_005380			protein-L-isoaspartate (D-aspartate)											ovary(1)	1		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		TCAGGAAGGACGATCCAACAC	0.348													T	150114765	C	T	150114765	2	4	94	1	0	0	0	0	0	0	0	1	11585	535	19	1		1	PCMT1	6	150114765	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	196544	150114765	21000302	1300	60433											
PLEKHG1	57480	broad.mit.edu	37	chr6	151130806	151130806	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaatcccagcaagacaaacGcctctgggttctgcacctaa	7	14	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:151130806G>T	uc003qny.1	+	11	1526	c.1214G>T	c.(1213-1215)CGC>CTC	p.R405L	PLEKHG1_uc011eel.1_Missense_Mutation_p.R445L|PLEKHG1_uc011eem.1_Missense_Mutation_p.R464L|PLEKHG1_uc003qnz.2_Missense_Mutation_p.R405L	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	405	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CAAGACAAACGCCTCTGGGTT	0.473													T	151130806	G	T	151130806	3	4	94	1	0	0	0	0	1	0	0	0	12068	1087	38	5	1248	5	PLEKHG1	6	151130806	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1016041	151130806	19984261	1301	60434											
ZBTB2	57621	broad.mit.edu	37	chr6	151687417	151687417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctccggagagtgaagcGccgtccacacaggtggcagg	16	12	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:151687417G>A	uc003qoh.2	-	3	919	c.784C>T	c.(784-786)CGC>TGC	p.R262C		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	262	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		AGAGTGAAGCGCCGTCCACAC	0.552													A	151687417	G	A	151687417	3	1	94	1	0	0	0	0	1	0	0	0	17525	1087	38	1	764	1	ZBTB2	6	151687417	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	556611	151687417	19427650	1302	60435											
C6orf211	79624	broad.mit.edu	37	chr6	151775783	151775783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaattttttgagaaacacGgagaggtaagaattgtttta	11	2	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:151775783G>A	uc003qok.1	+	2	401	c.142G>A	c.(142-144)GGA>AGA	p.G48R	C6orf211_uc011ees.1_Intron|RMND1_uc003qoi.2_5'Flank	NM_024573	NP_078849	Q9H993	CF211_HUMAN	hypothetical protein LOC79624	48							protein binding				0			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TGAGAAACACGGAGAGGTAAG	0.259													A	151775783	G	A	151775783	3	1	94	1	0	0	0	0	1	0	0	0	2354	1117	39	1	148	1	C6orf211	6	151775783	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	88366	151775783	19339284	1303	60436											
SYNE1	23345	broad.mit.edu	37	chr6	152590320	152590320	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagactgctctgccgctgCtgggtccatgtggtgcgagc	16	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:152590320C>T	uc010kiw.2	-	99	19277	c.18675G>A	c.(18673-18675)CAG>CAA	p.Q6225Q	SYNE1_uc010kiv.2_Silent_p.Q749Q|SYNE1_uc003qos.3_Silent_p.Q749Q|SYNE1_uc003qot.3_Silent_p.Q6154Q|SYNE1_uc003qou.3_Silent_p.Q6225Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6225	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)		TCTGCCGCTGCTGGGTCCATG	0.552										HNSCC(10;0.0054)			T	152590320	C	T	152590320	2	4	94	1	0	0	0	0	0	0	0	1	15442	796	28	2		2	SYNE1	6	152590320	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	814537	152590320	18524747	1304	60437											
SYNE1	23345	broad.mit.edu	37	chr6	152605226	152605226	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcagggtcggcctcacaagActcggataccagctcctctg	11	15	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:152605226A>G	uc010kiw.2	-	96	18696	c.18094T>C	c.(18094-18096)TCT>CCT	p.S6032P	SYNE1_uc010kiv.2_Missense_Mutation_p.S556P|SYNE1_uc003qos.3_Missense_Mutation_p.S556P|SYNE1_uc003qot.3_Missense_Mutation_p.S5961P|SYNE1_uc003qou.3_Missense_Mutation_p.S6032P|SYNE1_uc010kiy.1_Missense_Mutation_p.S211P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6032	Spectrin 20.|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)		GCCTCACAAGACTCGGATACC	0.557										HNSCC(10;0.0054)			G	152605226	A	G	152605226	3	3	94	1	0	0	0	0	1	0	0	0	15442	275	10	3	8576	3	SYNE1	6	152605226	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	14906	152605226	18509841	1305	60438											
SYNE1	23345	broad.mit.edu	37	chr6	152658027	152658027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagctccagctcagagtgCctcctcttcatgttctgcag	8	14	5	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:152658027C>T	uc010kiw.2	-	76	13079	c.12477G>A	c.(12475-12477)AGG>AGA	p.R4159R	SYNE1_uc003qot.3_Silent_p.R4088R|SYNE1_uc003qou.3_Silent_p.R4159R|SYNE1_uc010kja.1_Silent_p.R864R|SYNE1_uc010kiz.2_5'Flank	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4159	Spectrin 11.|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)		GCTCAGAGTGCCTCCTCTTCA	0.473										HNSCC(10;0.0054)			T	152658027	C	T	152658027	2	4	94	1	0	0	0	0	0	0	0	1	15442	738	26	2		2	SYNE1	6	152658027	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	52801	152658027	18457040	1306	60439											
SYNE1	23345	broad.mit.edu	37	chr6	152762390	152762391	+	Frame_Shift_Ins	INS	-	-	T													tttgtttcaaatcgctcccaINSttttcttaatgtgacctaaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:152762390_152762391insT	uc010kiw.2	-	32	4625_4626	c.4023_4024insA	c.(4021-4026)AAATGGfs	p.K1341fs	SYNE1_uc003qot.3_Frame_Shift_Ins_p.K1348fs|SYNE1_uc003qou.3_Frame_Shift_Ins_p.K1341fs|SYNE1_uc010kjb.1_Frame_Shift_Ins_p.K1324fs|SYNE1_uc003qow.2_Frame_Shift_Ins_p.K636fs|SYNE1_uc003qox.1_Frame_Shift_Ins_p.K857fs	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1341_1342	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)		AATCGCTCCCATTTTCTTAATG	0.317										HNSCC(10;0.0054)			T	152762391	-	T	152762390	7	5	94	1	0	1	1	0	0	0	0	0	15442	217	8	0	22902	0	SYNE1	6	152762390	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	104363	152762390	18352677	1307	60440	281	2									
SYNE1	23345	broad.mit.edu	37	chr6	152762391	152762392	+	Frame_Shift_Ins	INS	-	-	T													ttgtttcaaatcgctcccatINStttcttaatgtgacctaaat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:152762390_152762391A>AT	uc021zhb.1	-	29	4246_4247	c.4023_4024T>AT	c.(4021-4026)aaatggfs	p.K1341fs	SYNE1_uc003qot.4_Frame_Shift_Ins_p.K1348fs|SYNE1_uc003qou.4_Frame_Shift_Ins_p.K1341fs|SYNE1_uc010kjb.1_Frame_Shift_Ins_p.K1324fs|SYNE1_uc003qow.3_Frame_Shift_Ins_p.K636fs|SYNE1_uc003qox.1_Frame_Shift_Ins_p.K857fs	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1341					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATCGCTCCCATTTTCTTAATG	0.317										HNSCC(10;0.0054)			T	152762392	-	T	152762391	7	5	94	1	0	1	1	0	0	0	0	0	15442	1490	52	0	22903	0	SYNE1	6	152762391	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	152762391	18352676	1308	60441	281	2									
VIP	7432	broad.mit.edu	37	chr6	153075360	153075360	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgatcaagtttcattaaaagAagacattgacatgttgcaaa	7	5	2	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:153075360A>T	uc003qpe.2	+	3	339	c.167A>T	c.(166-168)GAA>GTA	p.E56V	VIP_uc003qpf.2_Missense_Mutation_p.E56V|VIP_uc010kjd.2_Missense_Mutation_p.E56V	NM_003381	NP_003372	P01282	VIP_HUMAN	vasoactive intestinal peptide isoform 1	56					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity				0		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		TCATTAAAAGAAGACATTGAC	0.343													T	153075360	A	T	153075360	3	4	94	1	0	0	0	0	1	0	0	0	17164	246	9	5	173	5	VIP	6	153075360	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	312969	153075360	18039707	1309	60442											
MTRF1L	54516	broad.mit.edu	37	chr6	153315697	153315697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatggtgctagtatggacgCggccttgcttttctgtcttt	11	9	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:153315697C>T	uc003qpi.3	-	4	743	c.638G>A	c.(637-639)CGC>CAC	p.R213H	MTRF1L_uc003qpl.3_Missense_Mutation_p.R213H|MTRF1L_uc011efa.1_Missense_Mutation_p.R177H|MTRF1L_uc003qpj.3_Missense_Mutation_p.R71H|MTRF1L_uc003qpk.3_Missense_Mutation_p.R177H	NM_019041	NP_061914	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor	213						mitochondrion	translation release factor activity, codon specific				0		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		AGTATGGACGCGGCCTTGCTT	0.512													T	153315697	C	T	153315697	3	4	94	1	0	0	0	0	1	0	0	0	9960	768	27	1	520	1	MTRF1L	6	153315697	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	240337	153315697	17799370	1310	60443											
TFB1M	51106	broad.mit.edu	37	chr6	155579106	155579106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtatacatcacagaggCtcttaaagtgtgagatggag	11	6	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:155579106C>T	uc003qqj.3	-	7	969	c.905G>A	c.(904-906)AGC>AAC	p.S302N	TFB1M_uc003qqk.2_Intron|uc003qqi.1_5'Flank	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			skin(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		ATCACAGAGGCTCTTAAAGTG	0.463													T	155579106	C	T	155579106	3	4	94	1	0	0	0	0	1	0	0	0	15790	797	28	2	139	2	TFB1M	6	155579106	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2263409	155579106	15535961	1311	60444											
EZR	7430	broad.mit.edu	37	chr6	159191873	159191873	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcgcgcatcatctgcTctttctctctctccacggtt	5	17	6	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:159191873T>C	uc003qrt.3	-	9	1228	c.1013A>G	c.(1012-1014)GAG>GGG	p.E338G	EZR_uc011efr.1_5'Flank|EZR_uc011efs.1_Missense_Mutation_p.E306G|EZR_uc003qru.3_Missense_Mutation_p.E338G	NM_003379	NP_003370	P15311	EZRI_HUMAN	ezrin	338	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CATCATCTGCTCTTTCTCTCT	0.547													C	159191873	T	C	159191873	3	2	94	1	0	0	0	0	1	0	0	0	5335	1551	54	3	767	3	EZR	6	159191873	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	3612767	159191873	11923194	1312	60445											
IGF2R	3482	broad.mit.edu	37	chr6	160493903	160493903	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggggagaatgaaaactgCcctcctggcgtgggtgagtg	17	7	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:160493903C>T	uc003qta.2	+	33	4825	c.4677C>T	c.(4675-4677)TGC>TGT	p.C1559C		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1559	11.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ATGAAAACTGCCCTCCTGGCG	0.532													T	160493903	C	T	160493903	2	4	94	1	0	0	0	0	0	0	0	1	7576	747	26	2		2	IGF2R	6	160493903	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1302030	160493903	10621164	1313	60446											
SLC22A2	6582	broad.mit.edu	37	chr6	160670398	160670398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactgttctccgatatctcCgcccaacaaattctgtaact	4	15	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:160670398C>T	uc003qtf.2	-	4	862	c.692G>A	c.(691-693)CGG>CAG	p.R231Q	SLC22A2_uc003qte.1_Missense_Mutation_p.R231Q|SLC22A2_uc003qth.1_3'UTR	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	231	Cytoplasmic (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)|skin(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CCGATATCTCCGCCCAACAAA	0.458													T	160670398	C	T	160670398	3	4	94	1	0	0	0	0	1	0	0	0	14450	652	23	1	1007	1	SLC22A2	6	160670398	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	176495	160670398	10444669	1314	60447											
SLC22A3	6581	broad.mit.edu	37	chr6	160868775	160868775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcatccatctgtggtgGccttgtgatgcttttgcctg	12	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:160868775G>A	uc003qti.2	+	10	1562	c.1535G>A	c.(1534-1536)GGC>GAC	p.G512D	SLC22A3_uc011efx.1_RNA	NM_021977	NP_068812	O75751	S22A3_HUMAN	solute carrier family 22 member 3	512	Helical; (Potential).					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		ATCTGTGGTGGCCTTGTGATG	0.517													A	160868775	G	A	160868775	3	1	94	1	0	0	0	0	1	0	0	0	14455	1203	42	2	1573	2	SLC22A3	6	160868775	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	198377	160868775	10246292	1315	60448											
MAP3K4	4216	broad.mit.edu	37	chr6	161510475	161510475	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagacatccagtcagccggTcatcgccaaagctttgcagc	10	14	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:161510475T>C	uc003qtn.2	+	11	3087	c.2945T>C	c.(2944-2946)GTC>GCC	p.V982A	MAP3K4_uc010kkc.1_Missense_Mutation_p.V982A|MAP3K4_uc003qto.2_Missense_Mutation_p.V982A|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.V435A|MAP3K4_uc003qtp.2_5'Flank	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	982					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AGTCAGCCGGTCATCGCCAAA	0.463													C	161510475	T	C	161510475	3	2	94	1	0	0	0	0	1	0	0	0	9252	1667	58	3	2987	3	MAP3K4	6	161510475	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	641700	161510475	9604592	1316	60449											
QKI	9444	broad.mit.edu	37	chr6	163984516	163984516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatcattactgggcctgcGccggttctcccaccagctgc	11	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:163984516G>A	uc003qui.2	+	6	1250	c.699G>A	c.(697-699)GCG>GCA	p.A233A	QKI_uc003que.2_Silent_p.A233A|QKI_uc003quf.2_Silent_p.A233A|QKI_uc003qug.2_Silent_p.A233A|QKI_uc003quh.2_Silent_p.A225A|QKI_uc003quj.2_Silent_p.A225A	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform	233					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		CTGGGCCTGCGCCGGTTCTCC	0.517													A	163984516	G	A	163984516	2	1	94	1	0	0	0	0	0	0	0	1	12873	1074	38	1		1	QKI	6	163984516	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2474041	163984516	7130551	1317	60450											
C6orf118	168090	broad.mit.edu	37	chr6	165715177	165715177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacatcctgtacctgtctgCgctggtggctccggccaggt	13	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:165715177C>T	uc003qum.3	-	2	670	c.634G>A	c.(634-636)GCA>ACA	p.A212T	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	212											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TACCTGTCTGCGCTGGTGGCT	0.622													T	165715177	C	T	165715177	3	4	94	1	0	0	0	0	1	0	0	0	2323	768	27	1	807	1	C6orf118	6	165715177	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1730661	165715177	5399890	1318	60451											
PDE10A	10846	broad.mit.edu	37	chr6	165746572	165746572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatgaaatccaggttgcaGtctcctcccctcgaatcacc	9	14	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:165746572G>A	uc003qun.2	-	23	2523	c.2282C>T	c.(2281-2283)ACT>ATT	p.T761I	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.T691I|PDE10A_uc003quo.2_Missense_Mutation_p.T771I	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	761					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CCAGGTTGCAGTCTCCTCCCC	0.502													A	165746572	G	A	165746572	3	1	94	1	0	0	0	0	1	0	0	0	11630	1029	36	4	61	4	PDE10A	6	165746572	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	31395	165746572	5368495	1319	60452											
T	6862	broad.mit.edu	37	chr6	166574379	166574379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggagcatgctgggatggGcaggcattccaaggctggac	18	9	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:166574379G>A	uc003quu.1	-	8	1473	c.980C>T	c.(979-981)GCC>GTC	p.A327V	T_uc003qut.1_Missense_Mutation_p.A328V|T_uc003quv.1_Missense_Mutation_p.A269V	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	327					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GCTGGGATGGGCAGGCATTCC	0.547									Chordoma_Familial_Clustering_of				A	166574379	G	A	166574379	3	1	94	1	0	0	0	0	1	0	0	0	15485	1203	42	2	335	2	T	6	166574379	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	827807	166574379	4540688	1320	60453											
RPS6KA2	6196	broad.mit.edu	37	chr6	166836791	166836791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggtgtcatgagcagccCgttccccgcgcgcagctgct	14	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:166836791C>T	uc003qvb.1	-	17	1915	c.1696G>A	c.(1696-1698)GGG>AGG	p.G566R	RPS6KA2_uc011ego.1_Missense_Mutation_p.G477R|RPS6KA2_uc010kkl.1_Missense_Mutation_p.G477R|RPS6KA2_uc003qvc.1_Missense_Mutation_p.G574R|RPS6KA2_uc003qvd.1_Missense_Mutation_p.G591R|RPS6KA2_uc010kkk.1_5'UTR	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	566	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ATGAGCAGCCCGTTCCCCGCG	0.617													T	166836791	C	T	166836791	3	4	94	1	0	0	0	0	1	0	0	0	13651	652	23	1	525	1	RPS6KA2	6	166836791	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	262412	166836791	4278276	1321	60454											
MLLT4	4301	broad.mit.edu	37	chr6	168370556	168370557	+	Frame_Shift_Ins	INS	-	-	A													acaaggtcaagatgtatccaINSataaagtgaaagcttctcgt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:168370555_168370556C>CA	uc021zik.1	+	32	5605_5606	c.5286_5287C>CA	c.(5284-5289)tccaatfs	p.S1762fs	MLLT4_uc021zij.1_Frame_Shift_Ins_p.S1724fs|MLLT4_uc021zim.1_Frame_Shift_Ins_p.S1362fs	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1805					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AAGATGTATCCAATAAAGTGAA	0.406			T	MLL	AL								A	168370557	-	A	168370556	7	5	94	1	0	1	1	0	0	0	0	0	9629	130	5	0	5673	0	MLLT4	6	168370556	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1533765	168370556	2744511	1322	60455											
THBS2	7058	broad.mit.edu	37	chr6	169648522	169648523	+	Frame_Shift_Del	DEL	CT	CT	-													cagagcgtaccctgaagtgaCtctctctggcagagcctttg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:169648522_169648523delCT	uc003qwt.2	-	4	846_847	c.598_599delAG	c.(598-600)AGTfs	p.S200fs		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	200	TSP N-terminal.|Heparin-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCTGAAGTGACTCTCTCTGGCA	0.584													-	169648523	CT	-	169648522	7	5	94	1	0	1	0	1	0	0	0	0	15851	565	20	0	2999	0	THBS2	6	169648522	Frame_Shift_Del	DEL	CT	TCGA-BR-8487-01A-11D-2394-08	1277966	169648522	1466545	1323	60456											
TCTE3	6991	broad.mit.edu	37	chr6	170143237	170143237	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatgaacttataacggtggTacccaaattctttgactgct	7	8	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:170143237T>C	uc003qxe.1	-	3	509	c.425A>G	c.(424-426)TAC>TGC	p.Y142C		NM_174910	NP_777570	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	142					transport	cytoplasm|dynein complex|membrane|microtubule	motor activity				0		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)		ATAACGGTGGTACCCAAATTC	0.338													C	170143237	T	C	170143237	3	2	94	1	0	0	0	0	1	0	0	0	15715	1638	57	3	179	3	TCTE3	6	170143237	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	494715	170143237	971830	1324	60457											
C6orf70	55780	broad.mit.edu	37	chr6	170176681	170176681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgtgtccagccaggtcAccgttgcctcagagctgaga	13	13	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:170176681A>G	uc003qxg.1	+	16	1684	c.1651A>G	c.(1651-1653)ACC>GCC	p.T551A	C6orf70_uc011ehb.1_Missense_Mutation_p.T425A|C6orf70_uc003qxh.1_Intron|C6orf70_uc010kky.1_Intron|C6orf70_uc003qxi.1_Missense_Mutation_p.T199A	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	hypothetical protein LOC55780	551						integral to membrane				ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		CAGCCAGGTCACCGTTGCCTC	0.617													G	170176681	A	G	170176681	3	3	94	1	0	0	0	0	1	0	0	0	2370	159	6	3	1713	3	C6orf70	6	170176681	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	33444	170176681	938386	1325	60458											
FAM120B	84498	broad.mit.edu	37	chr6	170632310	170632310	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatttaccgtcccattcgAcagcgggtctactcactctt	6	14	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:170632310A>G	uc003qxp.2	+	3	1986	c.1878A>G	c.(1876-1878)CGA>CGG	p.R626R	FAM120B_uc003qxo.1_Silent_p.R626R|FAM120B_uc011ehd.1_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	626					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GTCCCATTCGACAGCGGGTCT	0.488													G	170632310	A	G	170632310	2	3	94	1	0	0	0	0	0	0	0	1	5417	262	10	3		3	FAM120B	6	170632310	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	455629	170632310	482757	1326	60459											
PRKAR1B	5575	broad.mit.edu	37	chr7	720281	720281	+	Frame_Shift_Del	DEL	G	G	-													gggccttcaccacagggttcGggggggtgggcgacacctcc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:720280_720280CG>C	uc003siu.2	-	2	394	c.261_261CG>G	c.(259-261)ccgfs	p.P87fs	PRKAR1B_uc021zyi.1_Frame_Shift_Del_p.P87fs|PRKAR1B_uc003siv.3_Frame_Shift_Del_p.P87fs|PRKAR1B_uc021zyj.1_Frame_Shift_Del_p.P87fs|PRKAR1B_uc021zyk.1_Frame_Shift_Del_p.P87fs|PRKAR1B_uc003siw.2_Frame_Shift_Del_p.P87fs	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	87	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	p.P87T(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CCACAGGGTTCGGGGGGGTGG	0.622													-	720281	G	-	720281	7	5	94	1	0	1	0	1	0	0	0	0	12504	1116	39	0	921	0	PRKAR1B	7	720281	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08		720281	158418382	1327	60460											
C7orf50	84310	broad.mit.edu	37	chr7	1037311	1037311	+	Frame_Shift_Del	DEL	G	G	-													gcgctgggccctccccggcaGggggggatcagagccctcct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:1037310_1037310AG>A	uc003sju.2	-	4	606	c.536_536CT>T	c.(535-537)ctgfs	p.L179fs	C7orf50_uc011jvt.1_Frame_Shift_Del_p.L179fs|C7orf50_uc011jvu.1_Frame_Shift_Del_p.L179fs	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN	Homo sapiens chromosome 7 open reading frame 50 (C7orf50), transcript variant 1, mRNA.	179							protein binding	p.L179fs*>17(2)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CCTCCCCGGCAGGGGGGGATC	0.721													-	1037311	G	-	1037311	7	5	94	1	0	1	0	1	0	0	0	0	2399	991	35	0	53	0	C7orf50	7	1037311	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	317030	1037311	158101352	1328	60461											
GPR146	115330	broad.mit.edu	37	chr7	1097807	1097807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccgcagggaggacacgcCcctggaccgggacacgggcc	16	16	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:1097807C>T	uc003sjw.2	+	2	732	c.656C>T	c.(655-657)CCC>CTC	p.P219L	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjx.3_Missense_Mutation_p.P219L|GPR146_uc003sjy.1_Missense_Mutation_p.P219L	NM_138445	NP_612454	Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	219	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GAGGACACGCCCCTGGACCGG	0.687													T	1097807	C	T	1097807	3	4	94	1	0	0	0	0	1	0	0	0	6652	623	22	4	658	4	GPR146	7	1097807	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	60496	1097807	158040856	1329	60462											
GPER	2852	broad.mit.edu	37	chr7	1131797	1131797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcaacatgtacagcagcGtcttcttcctcacctggatg	9	12	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:1131797G>A	uc010ksd.1	+	2	822	c.433G>A	c.(433-435)GTC>ATC	p.V145I	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.V145I|GPER_uc003ska.1_Missense_Mutation_p.V145I|GPER_uc003skb.2_Missense_Mutation_p.V145I	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	145	Helical; Name=3; (Potential).			NMYSSVF -> QHVQAASS (in Ref. 7; AAB02736).		endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		GTACAGCAGCGTCTTCTTCCT	0.607													A	1131797	G	A	1131797	3	1	94	1	0	0	0	0	1	0	0	0	6607	1145	40	1	435	1	GPER	7	1131797	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	33990	1131797	158006866	1330	60463											
MICALL2	79778	broad.mit.edu	37	chr7	1488346	1488346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcaaggccaccatgtcctCggcatccagcaaggctggga	11	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:1488346C>T	uc003skj.3	-	3	391	c.244G>A	c.(244-246)GAG>AAG	p.E82K		NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	MICAL-like 2 isoform 1	82	CH.					cytoplasm|cytoskeleton	zinc ion binding			central_nervous_system(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		ACCATGTCCTCGGCATCCAGC	0.642													T	1488346	C	T	1488346	3	4	94	1	0	0	0	0	1	0	0	0	9574	893	31	1	2530	1	MICALL2	7	1488346	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	356549	1488346	157650317	1331	60464											
NUDT1	4521	broad.mit.edu	37	chr7	2284328	2284330	+	In_Frame_Del	DEL	AAG	AAG	-													tggctttgggggcaaagtgcAagaaggagagaccatcgagg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:2284328_2284330delAAG	uc003slp.1	+	3	290_292	c.188_190delAAG	c.(187-192)CAAGAA>CAA	p.E64del	FTSJ2_uc003slk.2_5'Flank|FTSJ2_uc003sll.2_5'Flank|FTSJ2_uc003slm.2_5'Flank|FTSJ2_uc003sln.2_5'Flank|FTSJ2_uc003slo.2_5'Flank|NUDT1_uc003slq.1_In_Frame_Del_p.E41del|NUDT1_uc003slr.1_In_Frame_Del_p.E41del|NUDT1_uc003sls.1_In_Frame_Del_p.E64del|NUDT1_uc003slt.1_In_Frame_Del_p.E41del|NUDT1_uc003slu.1_In_Frame_Del_p.E64del|NUDT1_uc003slv.1_In_Frame_Del_p.E41del	NM_198949	NP_945187	P36639	8ODP_HUMAN	nudix-type motif 1 isoform p22	82	Nudix box.|Nudix hydrolase.				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding				0		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		GGCAAAGTGCAAGAAGGAGAGAC	0.517								Direct_reversal_of_damage|Modulation_of_nucleotide_pools					-	2284330	AAG	-	2284328	7	5	94	1	0	1	0	1	0	0	0	0	10725	130	5	0	194	0	NUDT1	7	2284328	In_Frame_Del	DEL	AAG	TCGA-BR-8487-01A-11D-2394-08	795982	2284328	156854335	1332	60465											
SNX8	29886	broad.mit.edu	37	chr7	2297144	2297144	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttctcatgccgctcgcaCaggtcctgcggggccggggg	15	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:2297144C>T	uc003slw.2	-	9	1033	c.990G>A	c.(988-990)CTG>CTA	p.L330L		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	330					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GCCGCTCGCACAGGTCCTGCG	0.692													T	2297144	C	T	2297144	2	4	94	1	0	0	0	0	0	0	0	1	14908	465	17	4		4	SNX8	7	2297144	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	12816	2297144	156841519	1333	60466											
SNX8	29886	broad.mit.edu	37	chr7	2311527	2311527	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttgaggaccacatcctcGgagaacagggggtgtcgcgc	15	11	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:2311527G>A	uc003slw.2	-	4	541	c.498C>T	c.(496-498)TCC>TCT	p.S166S		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	166	PX.				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CCACATCCTCGGAGAACAGGG	0.662													A	2311527	G	A	2311527	2	1	94	1	0	0	0	0	0	0	0	1	14908	1103	39	1		1	SNX8	7	2311527	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	14383	2311527	156827136	1334	60467											
C7orf27	221927	broad.mit.edu	37	chr7	2583333	2583333	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacccacagggcttccgtccAggggctctggcagcgcccga	13	17	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:2583333A>G	uc003smi.2	-	5	736	c.694T>C	c.(694-696)TGG>CGG	p.W232R	C7orf27_uc003smh.3_5'Flank|C7orf27_uc003smj.1_Missense_Mutation_p.W232R	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	232					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		GCTTCCGTCCAGGGGCTCTGG	0.662													G	2583333	A	G	2583333	3	3	94	1	0	0	0	0	1	0	0	0	2382	188	7	3	1811	3	C7orf27	7	2583333	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	271806	2583333	156555330	1335	60468											
CARD11	84433	broad.mit.edu	37	chr7	2985499	2985499	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctctttcccagtcaccagTttgtacagttctgggtaata	9	10	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:2985499T>C	uc003smv.2	-	4	716	c.312A>G	c.(310-312)AAA>AAG	p.K104K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	104	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CAGTCACCAGTTTGTACAGTT	0.488			Mis		DLBCL								C	2985499	T	C	2985499	2	2	94	1	0	0	0	0	0	0	0	1	2645	1722	60	3		3	CARD11	7	2985499	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	402166	2985499	156153164	1336	60469											
SDK1	221935	broad.mit.edu	37	chr7	4153057	4153057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccagtgagaccagcctgCggcttcgctgggtggtgagt	16	11	0	2	rs78059548		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:4153057C>T	uc003smx.2	+	24	3710	c.3571C>T	c.(3571-3573)CGG>TGG	p.R1191W	SDK1_uc010kso.2_Missense_Mutation_p.R467W	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1191	Fibronectin type-III 6.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GACCAGCCTGCGGCTTCGCTG	0.642													T	4153057	C	T	4153057	3	4	94	1	0	0	0	0	1	0	0	0	13968	759	27	1	3665	1	SDK1	7	4153057	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1167558	4153057	154985606	1337	60470											
SDK1	221935	broad.mit.edu	37	chr7	4169577	4169577	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacctggatcccgagcccaGgagccacatcgtgcgaggga	14	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:4169577G>T	uc003smx.2	+	27	4116	c.3977G>T	c.(3976-3978)AGG>ATG	p.R1326M	SDK1_uc010kso.2_Missense_Mutation_p.R602M|SDK1_uc003smy.2_Translation_Start_Site	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1326	Fibronectin type-III 7.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCGAGCCCAGGAGCCACATC	0.652													T	4169577	G	T	4169577	3	4	94	1	0	0	0	0	1	0	0	0	13968	1000	35	5	4083	5	SDK1	7	4169577	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	16520	4169577	154969086	1338	60471											
KIAA0415	9907	broad.mit.edu	37	chr7	4823046	4823046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcagacacctcctccccGtcatggccaaggtcgtggtc	10	17	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:4823046G>A	uc003sne.2	+	4	549	c.466G>A	c.(466-468)GTC>ATC	p.V156I	KIAA0415_uc010ksp.2_RNA	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	156					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		CCTCCTCCCCGTCATGGCCAA	0.692													A	4823046	G	A	4823046	3	1	94	1	0	0	0	0	1	0	0	0	8175	1145	40	1	480	1	KIAA0415	7	4823046	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	653469	4823046	154315617	1339	60472											
KIAA0415	9907	broad.mit.edu	37	chr7	4824582	4824582	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccactctgtcggtgatctcCgccacctcctctgccggccg	9	19	3	1	rs113192428		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:4824582C>T	uc003sne.2	+	7	917	c.834C>T	c.(832-834)TCC>TCT	p.S278S	KIAA0415_uc010ksp.2_RNA	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	278					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		CGGTGATCTCCGCCACCTCCT	0.667													T	4824582	C	T	4824582	2	4	94	1	0	0	0	0	0	0	0	1	8175	639	23	1		1	KIAA0415	7	4824582	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1536	4824582	154314081	1340	60473											
KIAA0415	9907	broad.mit.edu	37	chr7	4830499	4830499	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacgaagctggcctcccggAgccaagatctgatccccagg	12	14	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:4830499A>G	uc003sne.2	+	16	2217	c.2134A>G	c.(2134-2136)AGC>GGC	p.S712G	KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Missense_Mutation_p.S189G	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	712					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		GGCCTCCCGGAGCCAAGATCT	0.647													G	4830499	A	G	4830499	3	3	94	1	0	0	0	0	1	0	0	0	8175	304	11	3	2196	3	KIAA0415	7	4830499	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	5917	4830499	154308164	1341	60474											
RADIL	55698	broad.mit.edu	37	chr7	4839270	4839270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggggtacctcaggtagCcaaggcccaggaggctgctg	18	10	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:4839270C>T	uc003snj.1	-	14	3286	c.3113G>A	c.(3112-3114)GGC>GAC	p.G1038D	RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Missense_Mutation_p.G543D|RADIL_uc011jwc.1_Missense_Mutation_p.G798D|RADIL_uc011jwd.1_RNA|RADIL_uc003snh.1_Missense_Mutation_p.G334D	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	1038	PDZ.				cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCTCAGGTAGCCAAGGCCCAG	0.706													T	4839270	C	T	4839270	3	4	94	1	0	0	0	0	1	0	0	0	12997	739	26	2	122	2	RADIL	7	4839270	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	8771	4839270	154299393	1342	60475											
RADIL	55698	broad.mit.edu	37	chr7	4841381	4841381	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactctggccagtcggggtcCccaggctcagggccaagtgg	16	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:4841381C>A	uc003snj.1	-	12	2918	c.2745G>T	c.(2743-2745)GGG>GGT	p.G915G	RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Silent_p.G420G|RADIL_uc011jwc.1_Silent_p.G675G|RADIL_uc011jwd.1_RNA|RADIL_uc003snh.1_Silent_p.G211G	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	915	Pro-rich.				cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGTCGGGGTCCCCAGGCTCAG	0.706													A	4841381	C	A	4841381	2	1	94	1	0	0	0	0	0	0	0	1	12997	610	22	5		5	RADIL	7	4841381	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2111	4841381	154297282	1343	60476											
RADIL	55698	broad.mit.edu	37	chr7	4841484	4841484	+	Frame_Shift_Del	DEL	G	G	-													cacggctgggttgccttccaGggggggcctgtgcccaggga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:4841484delG	uc003snj.1	-	12	2815	c.2642delC	c.(2641-2643)CCTfs	p.P881fs	RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Frame_Shift_Del_p.P386fs|RADIL_uc011jwc.1_Frame_Shift_Del_p.P641fs|RADIL_uc011jwd.1_RNA|RADIL_uc003snh.1_Frame_Shift_Del_p.P177fs	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	881	Pro-rich.				cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TTGCCTTCCAGGGGGGGCCTG	0.726													-	4841484	G	-	4841484	7	5	94	1	0	1	0	1	0	0	0	0	12997	1000	35	0	601	0	RADIL	7	4841484	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	103	4841484	154297179	1344	60477											
TNRC18	84629	broad.mit.edu	37	chr7	5352149	5352149	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcacctgggtgggcttgccGaaccacttccagagctgccg	12	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:5352149G>A	uc003soi.3	-	27	8722	c.8373C>T	c.(8371-8373)TTC>TTT	p.F2791F		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2791							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGGGCTTGCCGAACCACTTCC	0.706													A	5352149	G	A	5352149	2	1	94	1	0	0	0	0	0	0	0	1	16336	1049	37	1		1	TNRC18	7	5352149	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	510665	5352149	153786514	1345	60478											
TNRC18	84629	broad.mit.edu	37	chr7	5410796	5410796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctccgggccctcccgcagCggctctgtgatcttggaggg	14	15	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:5410796C>T	uc003soi.3	-	11	3778	c.3429G>A	c.(3427-3429)CCG>CCA	p.P1143P		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1143	Pro-rich.						DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCTCCCGCAGCGGCTCTGTGA	0.682													T	5410796	C	T	5410796	2	4	94	1	0	0	0	0	0	0	0	1	16336	755	27	1		1	TNRC18	7	5410796	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	58647	5410796	153727867	1346	60479											
FBXL18	80028	broad.mit.edu	37	chr7	5545153	5545153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcagatctgtgctggggaCgtgactcaggatgtgaagga	15	6	3	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:5545153C>T	uc003soo.2	-	2	221	c.127G>A	c.(127-129)GTC>ATC	p.V43I	FBXL18_uc003son.3_Missense_Mutation_p.V43I	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	43	F-box.									central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GTGCTGGGGACGTGACTCAGG	0.562													T	5545153	C	T	5545153	3	4	94	1	0	0	0	0	1	0	0	0	5714	536	19	1	2045	1	FBXL18	7	5545153	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	134357	5545153	153593510	1347	60480											
EIF2AK1	27102	broad.mit.edu	37	chr7	6066525	6066525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacctgttagaacttctgctCgctccatttctgttccaaac	5	13	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:6066525C>T	uc003spp.2	-	14	1744	c.1598G>A	c.(1597-1599)CGA>CAA	p.R533Q	EIF2AK1_uc003spq.2_Missense_Mutation_p.R532Q|EIF2AK1_uc011jwm.1_Missense_Mutation_p.R409Q	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha	533	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		AACTTCTGCTCGCTCCATTTC	0.468													T	6066525	C	T	6066525	3	4	94	1	0	0	0	0	1	0	0	0	4996	884	31	1	302	1	EIF2AK1	7	6066525	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	521372	6066525	153072138	1348	60481											
DAGLB	221955	broad.mit.edu	37	chr7	6449476	6449476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtggccctggtcaggccaCgtccacactggagacccctt	11	16	1	1	rs148435637		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:6449476C>T	uc003sqa.2	-	15	2181	c.2011G>A	c.(2011-2013)GTG>ATG	p.V671M	DAGLB_uc003spy.2_Missense_Mutation_p.V217M|DAGLB_uc003spz.2_Missense_Mutation_p.V368M|DAGLB_uc011jwt.1_Missense_Mutation_p.V485M|DAGLB_uc011jwu.1_Missense_Mutation_p.V542M|DAGLB_uc003sqb.2_Missense_Mutation_p.V390M|DAGLB_uc003sqc.2_Missense_Mutation_p.V390M|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.V630M	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	671	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGTCAGGCCACGTCCACACTG	0.587													T	6449476	C	T	6449476	3	4	94	1	0	0	0	0	1	0	0	0	4227	536	19	1	11	1	DAGLB	7	6449476	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	382951	6449476	152689187	1349	60482											
ZNF12	7559	broad.mit.edu	37	chr7	6731628	6731628	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccctgtgtgtgttctctgAtgcacagtaagggttccctt	10	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:6731628A>G	uc003sqt.1	-	5	1499	c.945T>C	c.(943-945)CAT>CAC	p.H315H	ZNF12_uc011jxa.1_Silent_p.H153H|ZNF12_uc003sqs.1_Silent_p.H277H	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	315	C2H2-type 2.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GTGTTCTCTGATGCACAGTAA	0.428													G	6731628	A	G	6731628	2	3	94	1	0	0	0	0	0	0	0	1	17715	330	12	3		3	ZNF12	7	6731628	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	282152	6731628	152407035	1350	60483											
THSD7A	221981	broad.mit.edu	37	chr7	11676578	11676578	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcatctcccatacatcgGccccatggacctacaaaaat	4	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:11676578G>A	uc003ssf.3	-	2	453	c.201C>T	c.(199-201)GGC>GGT	p.G67G		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	67	TSP type-1 1.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCATACATCGGCCCCATGGAC	0.453										HNSCC(18;0.044)			A	11676578	G	A	11676578	2	1	94	1	0	0	0	0	0	0	0	1	15876	1190	42	2		2	THSD7A	7	11676578	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4944950	11676578	147462085	1351	60484											
THSD7A	221981	broad.mit.edu	37	chr7	11871469	11871469	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtagcagcagcagcaggAgcagcggcagcggcagcggc	19	12	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:11871469A>G	uc003ssf.3	-	1	356	c.104T>C	c.(103-105)CTC>CCC	p.L35P		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	35						integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		cagcagcaggagcagcggcag	0.433										HNSCC(18;0.044)			G	11871469	A	G	11871469	3	3	94	1	0	0	0	0	1	0	0	0	15876	304	11	3	4977	3	THSD7A	7	11871469	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	194891	11871469	147267194	1352	60485											
HDAC9	9734	broad.mit.edu	37	chr7	18625006	18625006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggtggaccctgttgtccGtgagaagcaattgcagcagg	15	9	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:18625006G>A	uc003suh.2	+	2	166	c.125G>A	c.(124-126)CGT>CAT	p.R42H	HDAC9_uc003sue.2_Missense_Mutation_p.R42H|HDAC9_uc011jyd.1_Missense_Mutation_p.R42H|HDAC9_uc003sui.2_Missense_Mutation_p.R42H|HDAC9_uc003suj.2_Missense_Mutation_p.R42H|HDAC9_uc011jya.1_Missense_Mutation_p.R83H|HDAC9_uc003sua.1_Missense_Mutation_p.R61H|HDAC9_uc011jyb.1_Missense_Mutation_p.R42H|HDAC9_uc003sud.1_Missense_Mutation_p.R42H|HDAC9_uc011jyc.1_Missense_Mutation_p.R42H|HDAC9_uc003suf.1_Missense_Mutation_p.R70H|HDAC9_uc010kud.1_Missense_Mutation_p.R42H|HDAC9_uc011jye.1_Missense_Mutation_p.R11H|HDAC9_uc011jyf.1_Missense_Mutation_p.R11H	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	42					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTGTTGTCCGTGAGAAGCAA	0.493													A	18625006	G	A	18625006	3	1	94	1	0	0	0	0	1	0	0	0	7014	1145	40	1	131	1	HDAC9	7	18625006	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	6753537	18625006	140513657	1353	60486											
SP8	221833	broad.mit.edu	37	chr7	20824196	20824196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtcggagcgcgtgaagcGcttgccgcagaaaagccagt	14	12	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:20824196G>A	uc003suy.2	-	3	1427	c.1186C>T	c.(1186-1188)CGC>TGC	p.R396C	SP8_uc003suz.2_Missense_Mutation_p.R414C	NM_198956	NP_945194	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor isoform 2	396	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1						CGCGTGAAGCGCTTGCCGCAG	0.657													A	20824196	G	A	20824196	3	1	94	1	0	0	0	0	1	0	0	0	14970	1087	38	1	290	1	SP8	7	20824196	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2199190	20824196	138314467	1354	60487											
DNAH11	8701	broad.mit.edu	37	chr7	21657286	21657286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctgggatgcttacacggGcctggaaggcacagttaagg	15	9	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:21657286G>A	uc003svc.2	+	23	4191	c.4160G>A	c.(4159-4161)GGC>GAC	p.G1387D		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1387	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GCTTACACGGGCCTGGAAGGC	0.502									Kartagener_syndrome				A	21657286	G	A	21657286	3	1	94	1	0	0	0	0	1	0	0	0	4599	1203	42	2	4250	2	DNAH11	7	21657286	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	833090	21657286	137481377	1355	60488											
DNAH11	8701	broad.mit.edu	37	chr7	21742330	21742330	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacctgttttgattttaggaTcattacgactggggacttcg	10	7	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:21742330T>A	uc003svc.2	+	38	6235	c.6204T>A	c.(6202-6204)GAT>GAA	p.D2068E		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2068	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GATTTTAGGATCATTACGACT	0.388									Kartagener_syndrome				A	21742330	T	A	21742330	3	1	94	1	0	0	0	0	1	0	0	0	4599	1432	50	5	6351	5	DNAH11	7	21742330	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	85044	21742330	137396333	1356	60489											
DNAH11	8701	broad.mit.edu	37	chr7	21934308	21934308	+	Frame_Shift_Del	DEL	A	A	-													caacatggcagagataatgcAaaaaaattcaaatagaagcc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:21934307_21934307CA>C	uc003svc.3	+	78	12869	c.12838_12838CA>C	c.(12838-12840)caafs	p.Q4280fs		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4280					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAGATAATGCAAAAAAATTC	0.348									Kartagener syndrome				-	21934308	A	-	21934308	7	5	94	1	0	1	0	1	0	0	0	0	4599	130	5	0	13150	0	DNAH11	7	21934308	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	191978	21934308	137204355	1357	60490											
CDCA7L	55536	broad.mit.edu	37	chr7	21945971	21945971	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttagcggctgagacagtgAagttctctagagcaaacttc	10	8	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:21945971A>G	uc010kuk.2	-	6	977	c.857T>C	c.(856-858)TTC>TCC	p.F286S	CDCA7L_uc003sve.3_Missense_Mutation_p.F252S|CDCA7L_uc010kul.2_Missense_Mutation_p.F240S|CDCA7L_uc003svf.3_Missense_Mutation_p.F285S	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like isoform 1	286					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus					0						TGAGACAGTGAAGTTCTCTAG	0.488													G	21945971	A	G	21945971	3	3	94	1	0	0	0	0	1	0	0	0	3091	246	9	3	527	3	CDCA7L	7	21945971	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	11663	21945971	137192692	1358	60491											
C7orf46	340277	broad.mit.edu	37	chr7	23729040	23729040	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggtgcaaacactttgctgAtcagcacagtgctgcgcctg	11	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:23729040A>T	uc003swo.3	+	3	481	c.392A>T	c.(391-393)GAT>GTT	p.D131V	C7orf46_uc003swq.3_Missense_Mutation_p.D131V|C7orf46_uc003swr.3_Missense_Mutation_p.D73V|C7orf46_uc003swp.3_RNA|C7orf46_uc010kup.2_RNA	NM_199136	NP_954587	A4D161	CG046_HUMAN	hypothetical protein LOC340277 isoform 1	131											0						CACTTTGCTGATCAGCACAGT	0.443													T	23729040	A	T	23729040	3	4	94	1	0	0	0	0	1	0	0	0	2396	333	12	5	402	5	C7orf46	7	23729040	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1783069	23729040	135409623	1359	60492											
HOXA3	3200	broad.mit.edu	37	chr7	27147631	27147631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcggctccccaggccccGgcccgtggtggtggccgctg	18	16	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:27147631G>A	uc011jzl.1	-	3	1435	c.1235C>T	c.(1234-1236)CCG>CTG	p.P412L	HOXA3_uc011jzk.1_Missense_Mutation_p.P254L|HOXA3_uc003syk.2_Missense_Mutation_p.P412L	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	412					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2						CCCAGGCCCCGGCCCGTGGTG	0.677													A	27147631	G	A	27147631	3	1	94	1	0	0	0	0	1	0	0	0	7293	1116	39	1	100	1	HOXA3	7	27147631	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3418591	27147631	131991032	1360	60493											
TRIL	9865	broad.mit.edu	37	chr7	28997640	28997640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacaccacgagcaggaggCgcaaggcgcgggcagcctcc	15	16	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:28997640C>T	uc003szt.2	-	1	390	c.23G>A	c.(22-24)CGC>CAC	p.R8H	uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine rich repeats	8					inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding				0						GAGCAGGAGGCGCAAGGCGCG	0.721													T	28997640	C	T	28997640	3	4	94	1	0	0	0	0	1	0	0	0	16482	768	27	1	2416	1	TRIL	7	28997640	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1850009	28997640	130141023	1361	60494											
PLEKHA8	84725	broad.mit.edu	37	chr7	30094482	30094482	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttagtaccatgaacacaagGtattctagactctttaatat	5	7	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:30094482G>A	uc003tam.1	+	8	1044	c.953_splice	c.e8+1	p.S318_splice	PLEKHA8_uc003tao.2_Splice_Site_p.S202_splice|PLEKHA8_uc003tap.1_Splice_Site_p.S318_splice|PLEKHA8_uc003tan.2_Splice_Site_p.S318_splice	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A						protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(3)|ovary(1)	4						TGAACACAAGGTATTCTAGAC	0.418													A	30094482	G	A	30094482	5	1	94	1	0	0	0	0	0	0	1	0	12062	1275	44	4	984	4	PLEKHA8	7	30094482	Splice_Site	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1096842	30094482	129044181	1362	60495											
INMT	11185	broad.mit.edu	37	chr7	30795070	30795070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaggaggagaagctgcGggcagcggtgaagcgggtgc	22	6	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:30795070G>A	uc003tbs.1	+	3	411	c.395G>A	c.(394-396)CGG>CAG	p.R132Q	FAM188B_uc010kwe.2_Intron|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Missense_Mutation_p.R131Q	NM_006774	NP_006765	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	132						cytoplasm	amine N-methyltransferase activity				0						GAGAAGCTGCGGGCAGCGGTG	0.647													A	30795070	G	A	30795070	3	1	94	1	0	0	0	0	1	0	0	0	7745	1116	39	1	405	1	INMT	7	30795070	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	700588	30795070	128343593	1363	60496											
FAM188B	84182	broad.mit.edu	37	chr7	30825421	30825421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtatcatctaaaaggccccCgcacaaaagtaagcccatgc	7	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:30825421C>T	uc003tbt.2	+	4	553	c.476C>T	c.(475-477)CCG>CTG	p.P159L	FAM188B_uc010kwe.2_Missense_Mutation_p.P130L	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	hypothetical protein LOC84182	159											0						AAAAGGCCCCCGCACAAAAGT	0.448													T	30825421	C	T	30825421	3	4	94	1	0	0	0	0	1	0	0	0	5515	652	23	1	490	1	FAM188B	7	30825421	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	30351	30825421	128313242	1364	60497											
FAM188B	84182	broad.mit.edu	37	chr7	30921938	30921938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacttgtactactacgatgGcctggccaaccagcaggagc	11	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:30921938G>A	uc003tbt.2	+	16	2191	c.2114G>A	c.(2113-2115)GGC>GAC	p.G705D	FAM188B_uc010kwe.2_Missense_Mutation_p.G676D|AQP1_uc011kac.1_Missense_Mutation_p.G51D|FAM188B_uc003tbu.2_Missense_Mutation_p.G225D	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	hypothetical protein LOC84182	705											0						TACTACGATGGCCTGGCCAAC	0.622													A	30921938	G	A	30921938	3	1	94	1	0	0	0	0	1	0	0	0	5515	1203	42	2	2176	2	FAM188B	7	30921938	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	96517	30921938	128216725	1365	60498											
PDE1C	5137	broad.mit.edu	37	chr7	31918629	31918629	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctccacaaatatcccagcCtgcactgcgtgaacgatgct	7	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:31918629C>A	uc003tcm.1	-	4	874	c.405G>T	c.(403-405)CAG>CAT	p.Q135H	PDE1C_uc003tcn.1_Missense_Mutation_p.Q135H|PDE1C_uc003tco.1_Missense_Mutation_p.Q195H|PDE1C_uc003tcr.2_Missense_Mutation_p.Q135H|PDE1C_uc003tcs.2_Missense_Mutation_p.Q135H	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	135					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			ATATCCCAGCCTGCACTGCGT	0.507													A	31918629	C	A	31918629	3	1	94	1	0	0	0	0	1	0	0	0	11635	680	24	5	1555	5	PDE1C	7	31918629	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	996691	31918629	127220034	1366	60499											
BMPER	168667	broad.mit.edu	37	chr7	34097736	34097736	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaaggcaggacggagtgTcgcaataagcagtgcattcc	14	8	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:34097736T>C	uc011kap.1	+	10	1107	c.993T>C	c.(991-993)TGT>TGC	p.C331C		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	331	VWFC 5.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3						GGACGGAGTGTCGCAATAAGC	0.493													C	34097736	T	C	34097736	2	2	94	1	0	0	0	0	0	0	0	1	1468	1673	58	3		3	BMPER	7	34097736	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2179107	34097736	125040927	1367	60500											
BMPER	168667	broad.mit.edu	37	chr7	34118552	34118552	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actttcaggggacgtgtcagTacgttttgacaaaagactgc	11	8	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:34118552T>C	uc011kap.1	+	12	1276	c.1162T>C	c.(1162-1164)TAC>CAC	p.Y388H		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	388	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3						GACGTGTCAGTACGTTTTGAC	0.577													C	34118552	T	C	34118552	3	2	94	1	0	0	0	0	1	0	0	0	1468	1638	57	3	1208	3	BMPER	7	34118552	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	20816	34118552	125020111	1368	60501											
EEPD1	80820	broad.mit.edu	37	chr7	36194750	36194750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacttgcagggctgttccGtggagaaggccaacaacccc	13	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:36194750G>A	uc003tfa.2	+	2	1457	c.817G>A	c.(817-819)GTG>ATG	p.V273M		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	273					DNA repair		DNA binding				0						GGGCTGTTCCGTGGAGAAGGC	0.612													A	36194750	G	A	36194750	3	1	94	1	0	0	0	0	1	0	0	0	4932	1145	40	1	819	1	EEPD1	7	36194750	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2076198	36194750	122943913	1369	60502											
SFRP4	6424	broad.mit.edu	37	chr7	37953883	37953883	+	Splice_Site	DEL	A	A	-													ttttacacttgcaccgatctAaaaaaggcagaagaggcaga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:37953882_37953882TA>T	uc003tfo.4	-	3	913	c.527_splice	c.e3-1	p.D176_splice		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	Homo sapiens secreted frizzled-related protein 4 (SFRP4), mRNA.	176					Wnt receptor signaling pathway|brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of JNK cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGCACCGATCTAAAAAAGGCA	0.428													-	37953883	A	-	37953883	8	5	94	1	0	1	0	1	0	0	1	0	14163	377	13	0		0	SFRP4	7	37953883	Splice_Site	DEL	A	TCGA-BR-8487-01A-11D-2394-08	1759133	37953883	121184780	1370	60503											
VPS41	27072	broad.mit.edu	37	chr7	38783072	38783072	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttgctccttggcaaattcGattgctttatcaacatcatg	6	10	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:38783072G>A	uc003tgy.2	-	24	2078	c.2052C>T	c.(2050-2052)ATC>ATT	p.I684I	VPS41_uc003tgz.2_Silent_p.I659I|VPS41_uc010kxn.2_Silent_p.I595I|VPS41_uc003tgx.2_RNA	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	684	Clathrin.				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						TGGCAAATTCGATTGCTTTAT	0.418													A	38783072	G	A	38783072	2	1	94	1	0	0	0	0	0	0	0	1	17207	1048	37	1		1	VPS41	7	38783072	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	829189	38783072	120355591	1371	60504											
POU6F2	11281	broad.mit.edu	37	chr7	39500290	39500290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgctacagagggccccgCgtacagccagtcggccatct	12	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:39500290C>T	uc003thb.1	+	9	1589	c.1547C>T	c.(1546-1548)GCG>GTG	p.A516V		NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	516	POU-specific.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						GAGGGCCCCGCGTACAGCCAG	0.592													T	39500290	C	T	39500290	3	4	94	1	0	0	0	0	1	0	0	0	12285	768	27	1	1581	1	POU6F2	7	39500290	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	717218	39500290	119638373	1372	60505											
POU6F2	11281	broad.mit.edu	37	chr7	39504019	39504019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagtttatcgggagtgaaCcatccaaaaagcgcaagcgg	12	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:39504019C>T	uc003thb.1	+	10	1852	c.1810C>T	c.(1810-1812)CCA>TCA	p.P604S		NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	604					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						CGGGAGTGAACCATCCAAAAA	0.572													T	39504019	C	T	39504019	3	4	94	1	0	0	0	0	1	0	0	0	12285	507	18	4	1848	4	POU6F2	7	39504019	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3729	39504019	119634644	1373	60506											
CDK13	8621	broad.mit.edu	37	chr7	40134449	40134449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtaacttacaggaaaatcCgagtggccccagcctcatgc	10	12	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:40134449C>T	uc003thh.3	+	14	4691	c.4409C>T	c.(4408-4410)CCG>CTG	p.P1470L	CDK13_uc003thi.3_Missense_Mutation_p.P1410L|CDK13_uc003thj.2_Missense_Mutation_p.P521L|CDK13_uc003thk.2_Missense_Mutation_p.P403L	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1470					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						CAGGAAAATCCGAGTGGCCCC	0.512													T	40134449	C	T	40134449	3	4	94	1	0	0	0	0	1	0	0	0	3129	652	23	1	4463	1	CDK13	7	40134449	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	630430	40134449	119004214	1374	60507											
GLI3	2737	broad.mit.edu	37	chr7	42005573	42005573	+	Frame_Shift_Del	DEL	G	G	-													ccgcggacgtggccatcgccGgggggttgcagctgctgagg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:42005573delG	uc011kbh.1	-	15	3189	c.3098delC	c.(3097-3099)CCGfs	p.P1033fs	GLI3_uc011kbg.1_Frame_Shift_Del_p.P974fs	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1033					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GGCCATCGCCGGGGGGTTGCA	0.701									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				-	42005573	G	-	42005573	7	5	94	1	0	1	0	1	0	0	0	0	6439	1116	39	0	1648	0	GLI3	7	42005573	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	1871124	42005573	117133090	1375	60508											
GLI3	2737	broad.mit.edu	37	chr7	42018275	42018275	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggctttgaagggtttctGctctcttgagcagtccagcc	12	11	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:42018275G>A	uc011kbh.1	-	11	1661	c.1570C>T	c.(1570-1572)CAG>TAG	p.Q524*	GLI3_uc011kbg.1_Nonsense_Mutation_p.Q465*	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	524	C2H2-type 2.				negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						AAGGGTTTCTGCTCTCTTGAG	0.473									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42018275	G	A	42018275	4	1	94	1	0	0	0	0	0	1	0	0	6439	1328	46	2	3192	2	GLI3	7	42018275	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	12702	42018275	117120388	1376	60509											
C7orf44	55744	broad.mit.edu	37	chr7	43687183	43687183	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccggcatagaacacaccGtggaaaaggatccttgctcc	9	15	0	1	rs150071787		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:43687183G>A	uc003tin.1	-	3	160	c.66C>T	c.(64-66)CAC>CAT	p.H22H	C7orf44_uc003til.2_RNA|C7orf44_uc003tii.2_RNA|C7orf44_uc003tij.2_RNA|C7orf44_uc010kxu.1_RNA|C7orf44_uc003tik.2_RNA|C7orf44_uc003tim.1_RNA|C7orf44_uc003tio.1_Silent_p.H22H|C7orf44_uc003tiq.1_Silent_p.H22H|C7orf44_uc003tip.1_Silent_p.H22H	NM_018224	NP_060694	Q9GZY4	CG044_HUMAN	hypothetical protein LOC55744	22	Helical; (Potential).					integral to membrane				ovary(1)	1						AGAACACACCGTGGAAAAGGA	0.488													A	43687183	G	A	43687183	2	1	94	1	0	0	0	0	0	0	0	1	2394	1136	40	1		1	C7orf44	7	43687183	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1668908	43687183	115451480	1377	60510											
URGCP	55665	broad.mit.edu	37	chr7	43916483	43916483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccaggcctgccagtgccCggaagccgtcgccctgtttc	13	16	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:43916483C>T	uc003tiw.2	-	6	2636	c.2579G>A	c.(2578-2580)CGG>CAG	p.R860Q	URGCP_uc003tiu.2_Missense_Mutation_p.R817Q|URGCP_uc003tiv.2_Missense_Mutation_p.R785Q|URGCP_uc003tix.2_Missense_Mutation_p.R851Q|URGCP_uc003tiy.2_Missense_Mutation_p.R817Q|URGCP_uc003tiz.2_Missense_Mutation_p.R817Q|URGCP_uc011kbj.1_Missense_Mutation_p.R817Q	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	860					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						TGCCAGTGCCCGGAAGCCGTC	0.652													T	43916483	C	T	43916483	3	4	94	1	0	0	0	0	1	0	0	0	17023	652	23	1	220	1	URGCP	7	43916483	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	229300	43916483	115222180	1378	60511											
DBNL	28988	broad.mit.edu	37	chr7	44100420	44100420	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accccgagaacctcatcacgGgcatcgaggtgatcgacgaa	11	13	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:44100420G>T	uc003tjp.3	+	13	1296	c.1198G>T	c.(1198-1200)GGC>TGC	p.G400C	DBNL_uc003tjo.3_Missense_Mutation_p.G401C|DBNL_uc003tjr.3_Missense_Mutation_p.G273C|DBNL_uc003tjq.3_Missense_Mutation_p.G409C|DBNL_uc011kbm.1_Missense_Mutation_p.G376C|DBNL_uc011kbn.1_Missense_Mutation_p.G297C|DBNL_uc011kbo.1_Missense_Mutation_p.G301C|DBNL_uc011kbp.1_Missense_Mutation_p.G352C|DBNL_uc011kbq.1_Missense_Mutation_p.G325C|DBNL_uc011kbr.1_Missense_Mutation_p.G349C|DBNL_uc011kbs.1_Missense_Mutation_p.G305C	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	drebrin-like isoform b	400	SH3.				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			skin(1)	1						CCTCATCACGGGCATCGAGGT	0.587													T	44100420	G	T	44100420	3	4	94	1	0	0	0	0	1	0	0	0	4255	1232	43	5	1275	5	DBNL	7	44100420	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	183937	44100420	115038243	1379	60512											
PGAM2	5224	broad.mit.edu	37	chr7	44104740	44104740	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatggagttgtagtaggggTgcttctcgtccatcgggggc	16	7	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:44104740T>C	uc003tjs.2	-	1	424	c.389A>G	c.(388-390)CAC>CGC	p.H130R		NM_000290	NP_000281	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2	130					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity				0						GTAGTAGGGGTGCTTCTCGTC	0.642													C	44104740	T	C	44104740	3	2	94	1	0	0	0	0	1	0	0	0	11774	1696	59	3	384	3	PGAM2	7	44104740	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	4320	44104740	115033923	1380	60513											
POLM	27434	broad.mit.edu	37	chr7	44120414	44120414	+	Frame_Shift_Del	DEL	G	G	-													agcttatgtccagcagagctGggggggtgcaacccggggga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:44120413_44120413TG>T	uc003tjt.3	-	1	383	c.291_291CA>A	c.(289-291)ccafs	p.P97fs	POLM_uc003tju.3_Frame_Shift_Del_p.P97fs|POLM_uc003tjv.3_Non-coding_Transcript|POLM_uc003tjx.2_Frame_Shift_Del_p.P97fs|POLM_uc011kbt.1_5'UTR|POLM_uc003tjz.4_Frame_Shift_Del_p.P97fs|POLM_uc003tka.1_5'Flank|POLM_uc011kbu.1_Frame_Shift_Del_p.P97fs|POLM_uc010kxy.2_Frame_Shift_Del_p.P97fs	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	Homo sapiens polymerase (DNA directed), mu (POLM), mRNA.	97	BRCT.				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCAGCAGAGCTGGGGGGGTGC	0.637								DNA polymerases (catalytic subunits)					-	44120414	G	-	44120414	7	5	94	1	0	1	0	1	0	0	0	0	12206	1348	47	0	1234	0	POLM	7	44120414	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	15674	44120414	115018249	1381	60514											
AEBP1	165	broad.mit.edu	37	chr7	44150385	44150385	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagccagacatgggtgatgTacaccaacggctatgaggaa	12	9	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:44150385T>C	uc003tkb.2	+	12	1767	c.1462T>C	c.(1462-1464)TAC>CAC	p.Y488H	AEBP1_uc003tkc.3_5'UTR|AEBP1_uc003tkd.2_5'Flank	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	488	Required for DNA-binding and interaction with NFKBIA (By similarity).|F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ATGGGTGATGTACACCAACGG	0.582													C	44150385	T	C	44150385	3	2	94	1	0	0	0	0	1	0	0	0	349	1638	57	3	1508	3	AEBP1	7	44150385	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	29971	44150385	114988278	1382	60515											
AEBP1	165	broad.mit.edu	37	chr7	44151520	44151520	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccgagagctgttgctGctgctcatgcagtacctgtg	14	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:44151520G>A	uc003tkb.2	+	16	2213	c.1908G>A	c.(1906-1908)CTG>CTA	p.L636L	AEBP1_uc003tkc.3_Silent_p.L211L|AEBP1_uc003tkd.2_5'UTR	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	636	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGCTGTTGCTGCTGCTCATGC	0.637													A	44151520	G	A	44151520	2	1	94	1	0	0	0	0	0	0	0	1	349	1306	46	2		2	AEBP1	7	44151520	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1135	44151520	114987143	1383	60516											
NPC1L1	29881	broad.mit.edu	37	chr7	44579394	44579394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccctggaagttgagccagCgctgggcattgcaaagggca	14	11	0	1	rs145094484		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:44579394C>T	uc003tlb.2	-	2	658	c.602G>A	c.(601-603)CGC>CAC	p.R201H	NPC1L1_uc003tlc.2_Missense_Mutation_p.R201H|NPC1L1_uc011kbw.1_Missense_Mutation_p.R201H|NPC1L1_uc003tld.2_Missense_Mutation_p.R201H	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	201	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	GTTGAGCCAGCGCTGGGCATT	0.632													T	44579394	C	T	44579394	3	4	94	1	0	0	0	0	1	0	0	0	10571	768	27	1	3553	1	NPC1L1	7	44579394	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	427874	44579394	114559269	1384	60517											
DDX56	54606	broad.mit.edu	37	chr7	44612258	44612258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaaagctccagggagtcacGaagtttcaggctgtcttgct	11	10	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:44612258G>A	uc003tlg.2	-	4	1112	c.469C>T	c.(469-471)CGT>TGT	p.R157C	DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Missense_Mutation_p.R93C|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Missense_Mutation_p.R157C|DDX56_uc010kyh.1_RNA	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 56	157	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			upper_aerodigestive_tract(1)	1						AGGGAGTCACGAAGTTTCAGG	0.517													A	44612258	G	A	44612258	3	1	94	1	0	0	0	0	1	0	0	0	4374	1058	37	1	1218	1	DDX56	7	44612258	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	32864	44612258	114526405	1385	60518											
OGDH	4967	broad.mit.edu	37	chr7	44736535	44736535	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagccggatcttgaagacTcgtggggaaatggtgaagaa	15	6	1	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:44736535T>C	uc003tln.2	+	15	2032	c.1923T>C	c.(1921-1923)ACT>ACC	p.T641T	OGDH_uc011kbx.1_Silent_p.T637T|OGDH_uc011kby.1_Silent_p.T491T|OGDH_uc003tlp.2_Silent_p.T652T|OGDH_uc011kbz.1_Silent_p.T436T|OGDH_uc003tlo.1_Silent_p.T474T	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	641					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	TCTTGAAGACTCGTGGGGAAA	0.612													C	44736535	T	C	44736535	2	2	94	1	0	0	0	0	0	0	0	1	10839	1538	54	3		3	OGDH	7	44736535	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	124277	44736535	114402128	1386	60519											
OGDH	4967	broad.mit.edu	37	chr7	44737841	44737841	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggttcttgcagatgtgcaaCgatgacccagatgtcctgcc	11	12	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:44737841C>T	uc003tln.2	+	18	2518	c.2409C>T	c.(2407-2409)AAC>AAT	p.N803N	OGDH_uc011kbx.1_Silent_p.N799N|OGDH_uc011kby.1_Silent_p.N653N|OGDH_uc003tlp.2_Silent_p.N814N|OGDH_uc011kbz.1_Silent_p.N598N	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	803					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	AGATGTGCAACGATGACCCAG	0.547													T	44737841	C	T	44737841	2	4	94	1	0	0	0	0	0	0	0	1	10839	535	19	1		1	OGDH	7	44737841	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1306	44737841	114400822	1387	60520											
PURB	5814	broad.mit.edu	37	chr7	44924609	44924609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgagcgcgcgccgcggcccGccgccctcctcggcgccagc	14	21	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:44924609G>A	uc003tme.2	-	1	352	c.339C>T	c.(337-339)GGC>GGT	p.G113G		NM_033224	NP_150093	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	113	By similarity.				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding				0						gccgcggcccgccgcccTCCT	0.572													A	44924609	G	A	44924609	2	1	94	1	0	0	0	0	0	0	0	1	12828	1074	38	1		1	PURB	7	44924609	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	186768	44924609	114214054	1388	60521											
TBRG4	9238	broad.mit.edu	37	chr7	45142092	45142092	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accccagcttctcatgtaccTgggcaaggatagagtgtggt	12	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:45142092T>C	uc003tmv.2	-	7	1303	c.1177_splice	c.e7-1	p.V393_splice	TBRG4_uc003tmu.2_Splice_Site_p.V218_splice|TBRG4_uc003tmw.2_Splice_Site_p.V283_splice|TBRG4_uc003tmx.2_Splice_Site_p.V283_splice|TBRG4_uc011kcd.1_Splice_Site_p.V404_splice	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	cell cycle progression 2 protein isoform 1						apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity				0						CTCATGTACCTGGGCAAGGAT	0.602													C	45142092	T	C	45142092	5	2	94	1	0	0	0	0	0	0	1	0	15646	1594	55	3	740	3	TBRG4	7	45142092	Splice_Site	SNP	T	TCGA-BR-8487-01A-11D-2394-08	217483	45142092	113996571	1389	60522											
ADCY1	107	broad.mit.edu	37	chr7	45614583	45614583	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgggcggccccgcccgGggttccgccggggccgctgg	20	17	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:45614583G>T	uc003tne.3	+	1	459	c.441G>T	c.(439-441)CGG>CGT	p.R147R	ADCY1_uc003tnd.2_5'UTR	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	147					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	gccccgcccggggttccgccg	0.507													T	45614583	G	T	45614583	2	4	94	1	0	0	0	0	0	0	0	1	292	1219	43	5		5	ADCY1	7	45614583	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	472491	45614583	113524080	1390	60523											
ADCY1	107	broad.mit.edu	37	chr7	45753551	45753551	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggctccctccacactcccCaggccagtacctgccctctg	8	20	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:45753551C>A	uc003tne.3	+	20	3335	c.3317C>A	c.(3316-3318)CCA>CAA	p.P1106Q		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	1106	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCACACTCCCCAGGCCAGTAC	0.652													A	45753551	C	A	45753551	3	1	94	1	0	0	0	0	1	0	0	0	292	594	21	5	3395	5	ADCY1	7	45753551	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	138968	45753551	113385112	1391	60524											
IGFBP1	3484	broad.mit.edu	37	chr7	45928278	45928278	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggtccccgttgctcgcgtCtggctggtactgctcctgct	13	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:45928278C>T	uc003tnp.2	+	1	320	c.27C>T	c.(25-27)GTC>GTT	p.V9V	IGFBP1_uc003tno.3_Silent_p.V9V|IGFBP1_uc010kyn.2_Silent_p.V9V	NM_000596	NP_000587	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	9						extracellular space	insulin-like growth factor binding			lung(1)	1						TTGCTCGCGTCTGGCTGGTAC	0.711													T	45928278	C	T	45928278	2	4	94	1	0	0	0	0	0	0	0	1	7578	900	32	4		4	IGFBP1	7	45928278	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	174727	45928278	113210385	1392	60525											
TNS3	64759	broad.mit.edu	37	chr7	47408456	47408456	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctatactggtgagctacaAccatctgctgctggcgcacc	10	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:47408456A>G	uc003tnv.2	-	17	2154	c.1787T>C	c.(1786-1788)GTT>GCT	p.V596A	TNS3_uc003tnw.2_Missense_Mutation_p.V596A	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	596						focal adhesion	protein binding			ovary(4)	4						GTGAGCTACAACCATCTGCTG	0.652													G	47408456	A	G	47408456	3	3	94	1	0	0	0	0	1	0	0	0	16341	43	2	3	2610	3	TNS3	7	47408456	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1480178	47408456	111730207	1393	60526											
TNS3	64759	broad.mit.edu	37	chr7	47408585	47408585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctcgactcccaaaagtcCgctcccgctcataggggccg	10	17	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:47408585C>T	uc003tnv.2	-	17	2025	c.1658G>A	c.(1657-1659)CGG>CAG	p.R553Q	TNS3_uc003tnw.2_Missense_Mutation_p.R553Q	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	553						focal adhesion	protein binding			ovary(4)	4						CCCAAAAGTCCGCTCCCGCTC	0.627													T	47408585	C	T	47408585	3	4	94	1	0	0	0	0	1	0	0	0	16341	652	23	1	2739	1	TNS3	7	47408585	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	129	47408585	111730078	1394	60527											
TNS3	64759	broad.mit.edu	37	chr7	47409215	47409215	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacagggccctgcgtgtgtAgcactgcgggggagaaaacc	16	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:47409215A>G	uc003tnv.2	-	17	1395	c.1028T>C	c.(1027-1029)CTA>CCA	p.L343P	TNS3_uc003tnw.2_Missense_Mutation_p.L343P	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	343						focal adhesion	protein binding			ovary(4)	4						CTGCGTGTGTAGCACTGCGGG	0.572													G	47409215	A	G	47409215	3	3	94	1	0	0	0	0	1	0	0	0	16341	420	15	3	3369	3	TNS3	7	47409215	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	630	47409215	111729448	1395	60528											
TNS3	64759	broad.mit.edu	37	chr7	47440452	47440452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacagccccagtgtgaaaCtgcaggcggaaaatgacgtc	12	11	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:47440452C>T	uc003tnv.2	-	14	1150	c.783G>A	c.(781-783)CAG>CAA	p.Q261Q	TNS3_uc003tnw.2_Silent_p.Q261Q|TNS3_uc010kyo.1_3'UTR	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	261	C2 tensin-type.					focal adhesion	protein binding			ovary(4)	4						CAGTGTGAAACTGCAGGCGGA	0.567													T	47440452	C	T	47440452	2	4	94	1	0	0	0	0	0	0	0	1	16341	564	20	4		4	TNS3	7	47440452	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	31237	47440452	111698211	1396	60529											
TNS3	64759	broad.mit.edu	37	chr7	47467920	47467920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcctacctggctgagaCgttggtgaaatgcatgtagg	12	8	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:47467920C>T	uc003tnv.2	-	9	746	c.379G>A	c.(379-381)GTC>ATC	p.V127I	TNS3_uc003tnw.2_Missense_Mutation_p.V127I|TNS3_uc010kyo.1_Missense_Mutation_p.V127I	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	127	Phosphatase tensin-type.					focal adhesion	protein binding			ovary(4)	4						CTGGCTGAGACGTTGGTGAAA	0.532													T	47467920	C	T	47467920	3	4	94	1	0	0	0	0	1	0	0	0	16341	536	19	1	4050	1	TNS3	7	47467920	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	27468	47467920	111670743	1397	60530											
C7orf65	401335	broad.mit.edu	37	chr7	47694914	47694914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtcaacagaaggaagacGgctctggccgggccccaggg	16	11	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:47694914G>A	uc010kyp.1	+	1	73	c.38G>A	c.(37-39)CGG>CAG	p.R13Q		NM_001123065	NP_001116537	Q6ZTY9	CG065_HUMAN	hypothetical protein LOC401335	13											0						GAAGGAAGACGGCTCTGGCCG	0.403													A	47694914	G	A	47694914	3	1	94	1	0	0	0	0	1	0	0	0	2411	1116	39	1	40	1	C7orf65	7	47694914	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	226994	47694914	111443749	1398	60531											
PKD1L1	168507	broad.mit.edu	37	chr7	47840378	47840378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaaatgaaacagcagccCggggaaggcgtctgtgaagg	17	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:47840378C>T	uc003tny.1	-	54	8062	c.8062G>A	c.(8062-8064)GGG>AGG	p.G2688R	C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2688	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						AACAGCAGCCCGGGGAAGGCG	0.567													T	47840378	C	T	47840378	3	4	94	1	0	0	0	0	1	0	0	0	11964	652	23	1	503	1	PKD1L1	7	47840378	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	145464	47840378	111298285	1399	60532											
PKD1L1	168507	broad.mit.edu	37	chr7	47944043	47944043	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccccaaagtcccacaggtaGgcaacatctgtgccgaagtt	9	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:47944043G>T	uc003tny.1	-	12	1863	c.1863C>A	c.(1861-1863)GCC>GCA	p.A621A		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	621	Extracellular (Potential).|PKD 2.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						CCCACAGGTAGGCAACATCTG	0.577													T	47944043	G	T	47944043	2	4	94	1	0	0	0	0	0	0	0	1	11964	987	35	5		5	PKD1L1	7	47944043	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	103665	47944043	111194620	1400	60533											
PKD1L1	168507	broad.mit.edu	37	chr7	47968882	47968882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaccccagaactgtcccCgaaatccatcatcagacaga	5	15	3	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:47968882C>T	uc003tny.1	-	7	979	c.979G>A	c.(979-981)GGG>AGG	p.G327R		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	327	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GAACTGTCCCCGAAATCCATC	0.512													T	47968882	C	T	47968882	3	4	94	1	0	0	0	0	1	0	0	0	11964	652	23	1	7774	1	PKD1L1	7	47968882	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	24839	47968882	111169781	1401	60534											
ABCA13	154664	broad.mit.edu	37	chr7	48313562	48313562	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagaaaacaaaatgaactcTatattaaaaattgtaacttg	4	4	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:48313562T>C	uc003toq.2	+	17	4324	c.4299T>C	c.(4297-4299)TCT>TCC	p.S1433S	ABCA13_uc010kyr.2_Silent_p.S936S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1433					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AAATGAACTCTATATTAAAAA	0.269													C	48313562	T	C	48313562	2	2	94	1	0	0	0	0	0	0	0	1	31	1509	53	3		3	ABCA13	7	48313562	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	344680	48313562	110825101	1402	60535											
ABCA13	154664	broad.mit.edu	37	chr7	48412054	48412054	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctacatagttctattggTtctacataaccaattaagtt	5	9	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:48412054T>C	uc003toq.2	+	33	11118	c.11093T>C	c.(11092-11094)GTT>GCT	p.V3698A	ABCA13_uc010kys.1_Missense_Mutation_p.V772A|ABCA13_uc003tos.1_Missense_Mutation_p.V524A	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3698	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GTTCTATTGGTTCTACATAAC	0.348													C	48412054	T	C	48412054	3	2	94	1	0	0	0	0	1	0	0	0	31	1725	60	3	11052	3	ABCA13	7	48412054	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	98492	48412054	110726609	1403	60536											
FIGNL1	63979	broad.mit.edu	37	chr7	50514009	50514009	+	Frame_Shift_Del	DEL	T	T	-													atctactagctcctagagacTtttttacaccaccatatgaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:50514008_50514008CT>C	uc003tpd.3	-	3	1348	c.978_978AG>G	c.(976-978)aagfs	p.K326fs	FIGNL1_uc003tpb.3_Frame_Shift_Del_p.K215fs|FIGNL1_uc003tpc.3_Frame_Shift_Del_p.K326fs|FIGNL1_uc003tpe.3_Frame_Shift_Del_p.K326fs|FIGNL1_uc010kyy.3_Frame_Shift_Del_p.K326fs|FIGNL1_uc022ada.1_Frame_Shift_Del_p.K326fs	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	326					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CTCCTAGAGACTTTTTTACAC	0.433													-	50514009	T	-	50514009	7	5	94	1	0	1	0	1	0	0	0	0	5892	1609	56	0	1051	0	FIGNL1	7	50514009	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	2101955	50514009	108624654	1404	60537											
COBL	23242	broad.mit.edu	37	chr7	51096986	51096986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttccgacgtcatgggaagCggggtgcagggcaggtactt	16	8	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:51096986C>T	uc003tpr.3	-	10	1992	c.1807G>A	c.(1807-1809)GCT>ACT	p.A603T	COBL_uc003tps.2_Missense_Mutation_p.A660T|COBL_uc011kcl.1_Missense_Mutation_p.A603T|COBL_uc003tpp.3_Missense_Mutation_p.A389T|COBL_uc003tpq.3_Missense_Mutation_p.A544T|COBL_uc003tpo.3_Missense_Mutation_p.A145T	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	603										skin(3)|ovary(2)	5	Glioma(55;0.08)					TCATGGGAAGCGGGGTGCAGG	0.557													T	51096986	C	T	51096986	3	4	94	1	0	0	0	0	1	0	0	0	3653	768	27	1	1994	1	COBL	7	51096986	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	582977	51096986	108041677	1405	60538											
COBL	23242	broad.mit.edu	37	chr7	51097191	51097191	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgggattgcatctgtgtcGccgtgagggatcatggcatc	14	9	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:51097191G>A	uc003tpr.3	-	10	1787	c.1602C>T	c.(1600-1602)GGC>GGT	p.G534G	COBL_uc003tps.2_Silent_p.G591G|COBL_uc011kcl.1_Silent_p.G534G|COBL_uc003tpp.3_Silent_p.G320G|COBL_uc003tpq.3_Silent_p.G475G|COBL_uc003tpo.3_Silent_p.G76G	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	534										skin(3)|ovary(2)	5	Glioma(55;0.08)					CATCTGTGTCGCCGTGAGGGA	0.498													A	51097191	G	A	51097191	2	1	94	1	0	0	0	0	0	0	0	1	3653	1074	38	1		1	COBL	7	51097191	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	205	51097191	108041472	1406	60539											
EGFR	1956	broad.mit.edu	37	chr7	55270249	55270249	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagacagcttcttgcagCgatacagctcagaccccaca	9	13	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:55270249C>T	uc003tqk.2	+	27	3448	c.3202C>T	c.(3202-3204)CGA>TGA	p.R1068*	EGFR_uc010kzg.1_Nonsense_Mutation_p.R1023*|EGFR_uc011kco.1_Nonsense_Mutation_p.R1015*	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	1068	Cytoplasmic (Potential).|Ser-rich.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTTCTTGCAGCGATACAGCTC	0.483		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55270249	C	T	55270249	4	4	94	1	0	0	0	0	0	1	0	0	4967	760	27	1	3572	1	EGFR	7	55270249	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4173058	55270249	103868414	1407	60540											
SEPT14	346288	broad.mit.edu	37	chr7	55912280	55912280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagtcaatttcaactgaaCattgctttcctgaagttcat	5	9	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:55912280C>T	uc003tqz.2	-	4	424	c.307G>A	c.(307-309)GTT>ATT	p.V103I		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	septin 14	103					cell cycle|cell division	septin complex	GTP binding|protein binding				0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTCAACTGAACATTGCTTTCC	0.323													T	55912280	C	T	55912280	3	4	94	1	0	0	0	0	1	0	0	0	14063	478	17	4	1019	4	SEPT14	7	55912280	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	642031	55912280	103226383	1408	60541											
CCT6A	908	broad.mit.edu	37	chr7	56128577	56128577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacataagcccagtgtaaagGgcagggcacagcttggagtc	13	9	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:56128577G>A	uc003trl.1	+	11	1455	c.1291G>A	c.(1291-1293)GGC>AGC	p.G431S	PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.G386S|CCT6A_uc011kcu.1_Missense_Mutation_p.G400S	NM_001762	NP_001753	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A isoform	431					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			upper_aerodigestive_tract(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGTGTAAAGGGCAGGGCACA	0.488													A	56128577	G	A	56128577	3	1	94	1	0	0	0	0	1	0	0	0	2957	1232	43	4	1333	4	CCT6A	7	56128577	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	216297	56128577	103010086	1409	60542											
ZNF107	51427	broad.mit.edu	37	chr7	64168001	64168001	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatactggagagaaaccctAcaaatgtgaagaatgtgaca	9	7	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:64168001A>G	uc003ttd.2	+	7	2105	c.1319A>G	c.(1318-1320)TAC>TGC	p.Y440C	ZNF107_uc003tte.2_Missense_Mutation_p.Y440C	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	440	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GAGAAACCCTACAAATGTGAA	0.363													G	64168001	A	G	64168001	3	3	94	1	0	0	0	0	1	0	0	0	17712	391	14	3	1325	3	ZNF107	7	64168001	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	8039424	64168001	94970662	1410	60543											
GUSB	2990	broad.mit.edu	37	chr7	65441107	65441107	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcccagtcccattcgccacGactttgttttctgcatccaa	6	15	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:65441107G>A	uc003tun.2	-	5	883	c.807C>T	c.(805-807)GTC>GTT	p.V269V	GUSB_uc011kdt.1_Intron|GUSB_uc010kzw.1_Silent_p.V102V	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	269					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0						CATTCGCCACGACTTTGTTTT	0.522													A	65441107	G	A	65441107	2	1	94	1	0	0	0	0	0	0	0	1	6902	1045	37	1		1	GUSB	7	65441107	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1273106	65441107	93697556	1411	60544											
BAZ1B	9031	broad.mit.edu	37	chr7	72856836	72856836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaaagtccatggggtgcGtgatcacatcatagtagtcc	11	9	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:72856836G>A	uc003tyc.2	-	19	4487	c.4142C>T	c.(4141-4143)ACG>ATG	p.T1381M		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1381	Bromo.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)				CATGGGGTGCGTGATCACATC	0.512													A	72856836	G	A	72856836	3	1	94	1	0	0	0	0	1	0	0	0	1330	1145	40	1	313	1	BAZ1B	7	72856836	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	7415729	72856836	86281827	1412	60545											
MLXIPL	51085	broad.mit.edu	37	chr7	73010556	73010556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccagcttgatgttgaagCgccgcttctgctccgcggag	12	14	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:73010556C>T	uc003tyn.1	-	13	2033	c.1985G>A	c.(1984-1986)CGC>CAC	p.R662H	MLXIPL_uc003tyj.1_Missense_Mutation_p.R41H|MLXIPL_uc003tyk.1_Missense_Mutation_p.R660H|MLXIPL_uc003tyl.1_Missense_Mutation_p.R660H|MLXIPL_uc003tym.1_Missense_Mutation_p.R662H|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.R568H	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	662	Basic motif.				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				GATGTTGAAGCGCCGCTTCTG	0.652													T	73010556	C	T	73010556	3	4	94	1	0	0	0	0	1	0	0	0	9637	768	27	1	593	1	MLXIPL	7	73010556	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	153720	73010556	86128107	1413	60546											
DNAJC30	84277	broad.mit.edu	37	chr7	73097222	73097222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctcaggcgccgttcccGctccagttgttccccgtagt	11	17	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:73097222G>A	uc003tys.1	-	1	560	c.532C>T	c.(532-534)CGG>TGG	p.R178W	WBSCR22_uc010lbi.1_5'Flank|WBSCR22_uc003tyt.2_5'Flank|WBSCR22_uc003tyu.2_5'Flank|WBSCR22_uc003tyv.2_5'Flank|WBSCR22_uc003tyw.1_5'Flank	NM_032317	NP_115693	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog subfamily C member 30	178					protein folding		heat shock protein binding|unfolded protein binding				0						CGCCGTTCCCGCTCCAGTTGT	0.667													A	73097222	G	A	73097222	3	1	94	1	0	0	0	0	1	0	0	0	4648	1086	38	1	152	1	DNAJC30	7	73097222	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	86666	73097222	86041441	1414	60547											
ELN	2006	broad.mit.edu	37	chr7	73457318	73457318	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctggctctgcaggcgcTgggcttggtggtgtcccagg	17	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:73457318T>C	uc003tzw.2	+	7	421	c.330T>C	c.(328-330)GCT>GCC	p.A110A	RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_Intron|ELN_uc011kfe.1_Silent_p.A79A|ELN_uc003tzn.2_Silent_p.A110A|ELN_uc003tzz.2_Silent_p.A98A|ELN_uc003tzo.2_Silent_p.A110A|ELN_uc003tzp.2_Silent_p.A100A|ELN_uc003tzq.2_Intron|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Silent_p.A110A|ELN_uc003tzt.2_Silent_p.A110A|ELN_uc003tzu.2_Silent_p.A110A|ELN_uc003tzv.2_Silent_p.A100A|ELN_uc003tzx.2_Silent_p.A100A|ELN_uc011kff.1_Silent_p.A110A|ELN_uc003tzy.2_Silent_p.A100A	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	110					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CTGCAGGCGCTGGGCTTGGTG	0.552			T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome						C	73457318	T	C	73457318	2	2	94	1	0	0	0	0	0	0	0	1	5071	1567	55	3		3	ELN	7	73457318	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	360096	73457318	85681345	1415	60548											
ELN	2006	broad.mit.edu	37	chr7	73461040	73461040	+	Frame_Shift_Del	DEL	G	G	-													ccacaggagttggaccctttGggggaccgcaacctggagtc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:73461039_73461039TG>T	uc003tzw.3	+	11	676	c.585_585TG>T	c.(583-585)tttfs	p.F195fs	ELN_uc003tzm.1_Intron|ELN_uc003tzn.3_Frame_Shift_Del_p.F195fs|ELN_uc003tzy.3_Frame_Shift_Del_p.F190fs|ELN_uc003tzz.3_Frame_Shift_Del_p.F173fs|ELN_uc003tzo.3_Frame_Shift_Del_p.F195fs|ELN_uc003tzp.3_Frame_Shift_Del_p.F151fs|ELN_uc003tzq.3_Frame_Shift_Del_p.F92fs|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Frame_Shift_Del_p.F195fs|ELN_uc003tzt.3_Frame_Shift_Del_p.F200fs|ELN_uc003tzu.3_Frame_Shift_Del_p.F200fs|ELN_uc003tzv.3_Frame_Shift_Del_p.F185fs|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Frame_Shift_Del_p.F185fs|ELN_uc011kff.2_Frame_Shift_Del_p.F195fs	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	195					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TTGGACCCTTTGGGGGACCGC	0.597			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						-	73461040	G	-	73461040	7	5	94	1	0	1	0	1	0	0	0	0	5071	1348	47	0	647	0	ELN	7	73461040	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	3722	73461040	85677623	1416	60549											
CLIP2	7461	broad.mit.edu	37	chr7	73770846	73770846	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggccaagaagaccaagcgtAtggccatgggtgtgtcagca	14	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:73770846A>G	uc003uam.2	+	5	1237	c.910A>G	c.(910-912)ATG>GTG	p.M304V	CLIP2_uc003uan.2_Missense_Mutation_p.M304V	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	304						microtubule associated complex				skin(3)	3						GACCAAGCGTATGGCCATGGG	0.622													G	73770846	A	G	73770846	3	3	94	1	0	0	0	0	1	0	0	0	3533	449	16	3	924	3	CLIP2	7	73770846	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	309806	73770846	85367817	1417	60550											
GTF2IRD2B	389524	broad.mit.edu	37	chr7	74564095	74564095	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaactggtcgagattagtAagcgtggcctccactggcac	11	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:74564095A>G	uc003ubt.2	+	16	2057	c.1842A>G	c.(1840-1842)GTA>GTG	p.V614V	GTF2IRD2B_uc010lcd.2_Silent_p.V367V|GTF2IRD2B_uc003ubu.2_Silent_p.V444V	NM_001003795	NP_001003795	Q6EKJ0	GTD2B_HUMAN	GTF2I repeat domain containing 2B	614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						cgagattagtaagcgtggcct	0													G	74564095	A	G	74564095	2	3	94	1	0	0	0	0	0	0	0	1	6870	349	13	3		3	GTF2IRD2B	7	74564095	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	793249	74564095	84574568	1418	60551											
HIP1	3092	broad.mit.edu	37	chr7	75182750	75182750	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgatactactccaagtAcctcgccgatggccttgatc	7	13	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:75182750A>G	uc003uds.1	-	22	2336	c.2295_splice	c.e22+1	p.E765_splice	HIP1_uc011kfz.1_Splice_Site_p.E642_splice	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1						activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						TACTCCAAGTACCTCGCCGAT	0.537			T	PDGFRB	CMML								G	75182750	A	G	75182750	5	3	94	1	0	0	0	0	0	0	1	0	7114	405	14	3	856	3	HIP1	7	75182750	Splice_Site	SNP	A	TCGA-BR-8487-01A-11D-2394-08	618655	75182750	83955913	1419	60552											
HIP1	3092	broad.mit.edu	37	chr7	75203099	75203099	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagagaagcttgacagtgtAgtcataaaggtggctgcagt	14	5	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:75203099A>G	uc003uds.1	-	8	753	c.712T>C	c.(712-714)TAC>CAC	p.Y238H	HIP1_uc011kfz.1_Missense_Mutation_p.Y115H	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	238					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						TTGACAGTGTAGTCATAAAGG	0.582			T	PDGFRB	CMML								G	75203099	A	G	75203099	3	3	94	1	0	0	0	0	1	0	0	0	7114	420	15	3	2497	3	HIP1	7	75203099	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	20349	75203099	83935564	1420	60553											
POR	5447	broad.mit.edu	37	chr7	75608787	75608787	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggggaggaacatcatcgtgTtctacggctcccagacgggg	15	10	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:75608787T>C	uc003udy.2	+	4	338	c.256T>C	c.(256-258)TTC>CTC	p.F86L	POR_uc011kgb.1_RNA|POR_uc011kgc.1_5'Flank|POR_uc011kgd.1_5'Flank|POR_uc011kge.1_5'Flank	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	83	Flavodoxin-like.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	CATCATCGTGTTCTACGGCTC	0.637													C	75608787	T	C	75608787	3	2	94	1	0	0	0	0	1	0	0	0	12257	1725	60	3	266	3	POR	7	75608787	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	405688	75608787	83529876	1421	60554											
POR	5447	broad.mit.edu	37	chr7	75615500	75615500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgtccagcacctgctaaaGcaagaccgagagcacctgtg	10	13	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:75615500G>A	uc003udy.2	+	15	1921	c.1839G>A	c.(1837-1839)AAG>AAA	p.K613K	POR_uc011kgc.1_Silent_p.K421K|POR_uc011kgd.1_Silent_p.K512K|POR_uc011kge.1_Silent_p.K351K|POR_uc003uea.2_Silent_p.K100K	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	610			LKQDREHLW -> R (in AHV).		cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	ACCTGCTAAAGCAAGACCGAG	0.627													A	75615500	G	A	75615500	2	1	94	1	0	0	0	0	0	0	0	1	12257	962	34	2		2	POR	7	75615500	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	6713	75615500	83523163	1422	60555											
DTX2	113878	broad.mit.edu	37	chr7	76109916	76109916	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcaggacgggctgggcacCtggcacccctacagtgccac	14	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:76109916C>A	uc003uff.3	+	4	646	c.90C>A	c.(88-90)ACC>ACA	p.T30T	DTX2_uc011kgk.1_Intron|DTX2_uc003ufg.3_Silent_p.T30T|DTX2_uc003ufh.3_Silent_p.T30T|DTX2_uc003ufj.3_Silent_p.T30T	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	deltex 2 isoform a	30	WWE 1.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GGCTGGGCACCTGGCACCCCT	0.647													A	76109916	C	A	76109916	2	1	94	1	0	0	0	0	0	0	0	1	4794	668	24	5		5	DTX2	7	76109916	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	494416	76109916	83028747	1423	60556											
DTX2	113878	broad.mit.edu	37	chr7	76112329	76112329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctccggggcccggtctgCgcccaggctgaacaccacca	11	18	2	1	rs138141868	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:76112329C>T	uc003uff.3	+	5	1329	c.773C>T	c.(772-774)GCG>GTG	p.A258V	DTX2_uc011kgk.1_Missense_Mutation_p.A167V|DTX2_uc003ufg.3_Missense_Mutation_p.A258V|DTX2_uc003ufh.3_Missense_Mutation_p.A258V|DTX2_uc003ufj.3_Missense_Mutation_p.A258V	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	deltex 2 isoform a	258					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GCCCGGTCTGCGCCCAGGCTG	0.687													T	76112329	C	T	76112329	3	4	94	1	0	0	0	0	1	0	0	0	4794	768	27	1	779	1	DTX2	7	76112329	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2413	76112329	83026334	1424	60557											
PION	54103	broad.mit.edu	37	chr7	76942814	76942814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagtattaccggaggaagCcgcacaatgatactgaattt	9	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:76942814C>T	uc003ugf.2	-	28	2341	c.2262G>A	c.(2260-2262)CGG>CGA	p.R754R	PION_uc011kgo.1_Silent_p.R75R|PION_uc003ugd.2_Silent_p.R148R	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog	754					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1						CCGGAGGAAGCCGCACAATGA	0.343													T	76942814	C	T	76942814	2	4	94	1	0	0	0	0	0	0	0	1	11934	726	26	2		2	PION	7	76942814	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	830485	76942814	82195849	1425	60558											
TMEM60	85025	broad.mit.edu	37	chr7	77423301	77423301	+	Frame_Shift_Del	DEL	A	A	-													cttagaagtcagtctctcacAaaaaagacattatatccgag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:77423300_77423300CA>C	uc003ugn.3	-	1	618	c.391_391TG>G	c.(391-393)gtgfs	p.V131fs	TMEM60_uc022ago.1_Frame_Shift_Del_p.V131fs	NM_032936	NP_116325	Q9H2L4	TMM60_HUMAN	Homo sapiens transmembrane protein 60 (TMEM60), mRNA.	131						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)	4						CAGTCTCTCACAAAAAAGACA	0.388													-	77423301	A	-	77423301	7	5	94	1	0	1	0	1	0	0	0	0	16184	127	5	0	15	0	TMEM60	7	77423301	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	480487	77423301	81715362	1426	60559											
MAGI2	9863	broad.mit.edu	37	chr7	77756556	77756556	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggtactgcctggtgtcGggggagtgctgcctgtagtc	18	8	0	1	rs144084071		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:77756556G>A	uc003ugx.2	-	19	3635	c.3381C>T	c.(3379-3381)CCC>CCT	p.P1127P	MAGI2_uc003ugy.2_Silent_p.P1113P|MAGI2_uc010ldx.1_Silent_p.P720P	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	1127						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GCCTGGTGTCGGGGGAGTGCT	0.637													A	77756556	G	A	77756556	2	1	94	1	0	0	0	0	0	0	0	1	9191	1103	39	1		1	MAGI2	7	77756556	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	333255	77756556	81382107	1427	60560											
MAGI2	9863	broad.mit.edu	37	chr7	77762325	77762325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccaggggactctgctgCgccatgggactctgcttctc	13	13	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:77762325C>T	uc003ugx.2	-	18	3338	c.3084G>A	c.(3082-3084)GCG>GCA	p.A1028A	MAGI2_uc003ugy.2_Silent_p.A1014A|MAGI2_uc010ldx.1_Silent_p.A621A	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	1028	Pro-rich.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GACTCTGCTGCGCCATGGGAC	0.627													T	77762325	C	T	77762325	2	4	94	1	0	0	0	0	0	0	0	1	9191	755	27	1		1	MAGI2	7	77762325	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	5769	77762325	81376338	1428	60561											
MAGI2	9863	broad.mit.edu	37	chr7	77764526	77764526	+	Splice_Site	DEL	A	A	-													cgattttatggggcacagctAaaaaaaccccaacagaaata							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:77764525_77764525TA>T	uc003ugx.3	-	17	3100	c.2846_splice	c.e17-1	p.T949_splice	MAGI2_uc003ugy.3_Splice_Site_p.T935_splice|MAGI2_uc010ldx.1_Splice_Site_p.T542_splice	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	949	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGGGCACAGCTAAAAAAACCC	0.458													-	77764526	A	-	77764526	8	5	94	1	0	1	0	1	0	0	1	0	9191	377	13	0		0	MAGI2	7	77764526	Splice_Site	DEL	A	TCGA-BR-8487-01A-11D-2394-08	2201	77764526	81374137	1429	60562											
GNAT3	346562	broad.mit.edu	37	chr7	80091865	80091865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcataggcactaagtgcagCacaaaatataatgcatgtaa	8	7	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:80091865C>T	uc011kgu.1	-	6	673	c.673G>A	c.(673-675)GCT>ACT	p.A225T	CD36_uc003uhc.2_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha	225					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						CTAAGTGCAGCACAAAATATA	0.388													T	80091865	C	T	80091865	3	4	94	1	0	0	0	0	1	0	0	0	6513	710	25	2	401	2	GNAT3	7	80091865	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2327339	80091865	79046798	1430	60563											
CACNA2D1	781	broad.mit.edu	37	chr7	81598282	81598282	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgattcataggcaccaggTccactttctaaaaaaaaaat	5	11	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:81598282T>C	uc003uhr.1	-	29	2572	c.2316A>G	c.(2314-2316)GGA>GGG	p.G772G	CACNA2D1_uc011kgy.1_Intron	NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	784	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding	p.G772E(1)		ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AGGCACCAGGTCCACTTTCta	0.284													C	81598282	T	C	81598282	2	2	94	1	0	0	0	0	0	0	0	1	2548	1654	58	3		3	CACNA2D1	7	81598282	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1506417	81598282	77540381	1431	60564											
PCLO	27445	broad.mit.edu	37	chr7	82595415	82595415	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaggagtggctttttttctTcagaacgtatcttttcttct	7	8	5	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:82595415T>C	uc003uhx.2	-	4	3978	c.3689A>G	c.(3688-3690)GAA>GGA	p.E1230G	PCLO_uc003uhv.2_Missense_Mutation_p.E1230G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1169					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTTTTTTTCTTCAGAACGTAT	0.398													C	82595415	T	C	82595415	3	2	94	1	0	0	0	0	1	0	0	0	11583	1783	62	3	11844	3	PCLO	7	82595415	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	997133	82595415	76543248	1432	60565											
PCLO	27445	broad.mit.edu	37	chr7	82595608	82595608	+	Frame_Shift_Del	DEL	T	T	-													aatgactttttcagcttccgTttttacttcttgttcttgct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:82595607_82595607GT>G	uc003uhx.2	-	3	3786	c.3497_3497AC>C	c.(3496-3498)acgfs	p.T1166fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.T1166fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1105					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCAGCTTCCGTTTTTACTTC	0.363													-	82595608	T	-	82595608	7	5	94	1	0	1	0	1	0	0	0	0	11583	1725	60	0	12037	0	PCLO	7	82595608	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	193	82595608	76543055	1433	60566											
PCLO	27445	broad.mit.edu	37	chr7	82784067	82784067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaataaatgcacttacctcCgttaaatgaggattgggatt	9	6	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:82784067C>T	uc003uhx.2	-	2	2179	c.1890G>A	c.(1888-1890)ACG>ACA	p.T630T	PCLO_uc003uhv.2_Silent_p.T630T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	576	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CACTTACCTCCGTTAAATGAG	0.383													T	82784067	C	T	82784067	2	4	94	1	0	0	0	0	0	0	0	1	11583	639	23	1		1	PCLO	7	82784067	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	188459	82784067	76354596	1434	60567											
SEMA3E	9723	broad.mit.edu	37	chr7	83047757	83047757	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaaaggacatctgccccTtcctctctcagatctgggtg	9	13	5	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:83047757T>C	uc003uhy.1	-	5	965	c.499A>G	c.(499-501)AGG>GGG	p.R167G		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	167	Sema.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				CATCTGCCCCTTCCTCTCTCA	0.398													C	83047757	T	C	83047757	3	2	94	1	0	0	0	0	1	0	0	0	14028	1608	56	3	1880	3	SEMA3E	7	83047757	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	263690	83047757	76090906	1435	60568											
GRM3	2913	broad.mit.edu	37	chr7	86394753	86394753	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgttcacattttggatAcatgttcaagggatacctat	10	6	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:86394753A>G	uc003uid.2	+	2	1391	c.292A>G	c.(292-294)ACA>GCA	p.T98A	GRM3_uc010lef.2_Missense_Mutation_p.T96A|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	98	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CATTTTGGATACATGTTCAAG	0.423													G	86394753	A	G	86394753	3	3	94	1	0	0	0	0	1	0	0	0	6798	391	14	3	294	3	GRM3	7	86394753	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	3346996	86394753	72743910	1436	60569											
RUNDC3B	154661	broad.mit.edu	37	chr7	87258157	87258157	+	Frame_Shift_Del	DEL	G	G	-													gccatggcctcccggagcctGgggggcctgagcgggatccg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:87258157delG	uc003ujb.2	+	1	429	c.18delG	c.(16-18)CTGfs	p.L6fs	ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Frame_Shift_Del_p.L6fs|RUNDC3B_uc011khe.1_Frame_Shift_Del_p.L6fs|RUNDC3B_uc003ujc.2_Frame_Shift_Del_p.L6fs	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	6										skin(1)	1	Esophageal squamous(14;0.00164)					CCCGGAGCCTGGGGGGCCTGA	0.701													-	87258157	G	-	87258157	7	5	94	1	0	1	0	1	0	0	0	0	13745	1335	47	0	20	0	RUNDC3B	7	87258157	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	863404	87258157	71880506	1437	60570											
DBF4	10926	broad.mit.edu	37	chr7	87536670	87536671	+	Frame_Shift_Ins	INS	-	-	A													aaagagacccaggaaactgaINSaaaaaagctcctgtttattt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:87536669_87536670G>GA	uc003ujf.1	+	11	1720_1721	c.1216_1217G>GA	c.(1216-1218)gaafs	p.E406fs	DBF4_uc003ujh.1_Frame_Shift_Ins_p.E146fs|DBF4_uc003ujg.1_Frame_Shift_Ins_p.E182fs|DBF4_uc011khf.1_Frame_Shift_Ins_p.E173fs	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	Homo sapiens DBF4 homolog (S. cerevisiae) (DBF4), mRNA.	406					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CCAGGAAACTGAAAAAAAGCTC	0.381													A	87536671	-	A	87536670	7	5	94	1	0	1	1	0	0	0	0	0	4248	246	9	0	1263	0	DBF4	7	87536670	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	278513	87536670	71601993	1438	60571											
FZD1	8321	broad.mit.edu	37	chr7	90895652	90895652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcttaacaacgtggacgCgctgcgtggcttcgtgctgg	17	10	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:90895652C>T	uc003ula.2	+	1	1870	c.1457C>T	c.(1456-1458)GCG>GTG	p.A486V		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	486	Extracellular (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			AACGTGGACGCGCTGCGTGGC	0.632													T	90895652	C	T	90895652	3	4	94	1	0	0	0	0	1	0	0	0	6128	768	27	1	1459	1	FZD1	7	90895652	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3358982	90895652	68243011	1439	60572											
AKAP9	10142	broad.mit.edu	37	chr7	91729181	91729181	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacaggagctggtagagatAatgtatgtccatttttagca	11	5	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:91729181A>G	uc003ulg.2	+	44	11119	c.10894A>G	c.(10894-10896)AAT>GAT	p.N3632D	AKAP9_uc003ulf.2_Missense_Mutation_p.N3624D|AKAP9_uc003uli.2_Missense_Mutation_p.N3255D|AKAP9_uc003ulj.2_Missense_Mutation_p.N1402D|AKAP9_uc003ull.2_Missense_Mutation_p.N528D	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3636	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGGTAGAGATAATGTATGTCC	0.373			T	BRAF	papillary thyroid								G	91729181	A	G	91729181	3	3	94	1	0	0	0	0	1	0	0	0	459	362	13	3	11068	3	AKAP9	7	91729181	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	833529	91729181	67409482	1440	60573											
ANKIB1	54467	broad.mit.edu	37	chr7	91972386	91972386	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggatgtccaacccggagaActgctgccaacgatcaggtg	12	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:91972386A>G	uc003ulw.2	+	6	1212	c.836A>G	c.(835-837)AAC>AGC	p.N279S		NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	279							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACCCGGAGAACTGCTGCCAA	0.458													G	91972386	A	G	91972386	3	3	94	1	0	0	0	0	1	0	0	0	630	43	2	3	854	3	ANKIB1	7	91972386	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	243205	91972386	67166277	1441	60574											
CCDC132	55610	broad.mit.edu	37	chr7	92883210	92883210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatttgcaagaattagaggCgtatagagacaaattgaaac	9	5	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:92883210C>T	uc003umo.2	+	4	391	c.263C>T	c.(262-264)GCG>GTG	p.A88V	CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.A58V|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Missense_Mutation_p.A88V	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132 isoform a	88	Potential.										0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GAATTAGAGGCGTATAGAGAC	0.318													T	92883210	C	T	92883210	3	4	94	1	0	0	0	0	1	0	0	0	2767	768	27	1	277	1	CCDC132	7	92883210	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	910824	92883210	66255453	1442	60575											
TFPI2	7980	broad.mit.edu	37	chr7	93519623	93519623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaggagacagatctccgCgttatttcctgaagaagggg	15	8	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:93519623C>T	uc003umy.1	-	2	172	c.97G>A	c.(97-99)GCG>ACG	p.A33T	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Missense_Mutation_p.A33T|TFPI2_uc003una.1_Intron|TFPI2_uc003unb.1_Missense_Mutation_p.A33T|TFPI2_uc010lfg.1_Intron	NM_006528	NP_006519	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2 precursor	33					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			pancreas(1)	1	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CAGATCTCCGCGTTATTTCCT	0.567													T	93519623	C	T	93519623	3	4	94	1	0	0	0	0	1	0	0	0	15806	768	27	1	626	1	TFPI2	7	93519623	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	636413	93519623	65619040	1443	60576											
COL1A2	1278	broad.mit.edu	37	chr7	94052341	94052341	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcctcgtggtgaccaaGgtccagttggccgaactgga	15	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:94052341G>T	uc003ung.1	+	40	2947	c.2476G>T	c.(2476-2478)GGT>TGT	p.G826C	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	826			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGACCAAGGTCCAGTTGG	0.562										HNSCC(75;0.22)			T	94052341	G	T	94052341	3	4	94	1	0	0	0	0	1	0	0	0	3678	1000	35	5	2634	5	COL1A2	7	94052341	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	532718	94052341	65086322	1444	60577											
CASD1	64921	broad.mit.edu	37	chr7	94184854	94184854	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcagcggacacaaggggtatCttggtactgatacctggaaa	13	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:94184854C>A	uc003uni.3	+	18	2405	c.2178C>A	c.(2176-2178)ATC>ATA	p.I726I	CASD1_uc003unj.3_Silent_p.I726I	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	726	Helical; (Potential).					integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CAAGGGGTATCTTGGTACTGA	0.378													A	94184854	C	A	94184854	2	1	94	1	0	0	0	0	0	0	0	1	2664	903	32	5		5	CASD1	7	94184854	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	132513	94184854	64953809	1445	60578											
PEG10	23089	broad.mit.edu	37	chr7	94293284	94293284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcagcaaagctggagcGctcccactacctgatgcaca	10	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:94293284G>A	uc011kie.1	+	2	861	c.644G>A	c.(643-645)CGC>CAC	p.R215H		NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	paternally expressed 10 isoform RF1	139	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AAGCTGGAGCGCTCCCACTAC	0.537													A	94293284	G	A	94293284	3	1	94	1	0	0	0	0	1	0	0	0	11719	1087	38	1	650	1	PEG10	7	94293284	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	108430	94293284	64845379	1446	60579											
SLC25A13	10165	broad.mit.edu	37	chr7	95751286	95751286	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgataacatcagcaggggTcactaaagatgctgcaggca	11	9	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:95751286T>C	uc003uof.3	-	16	1806	c.1615A>G	c.(1615-1617)ACC>GCC	p.T539A	SLC25A13_uc003uog.3_Missense_Mutation_p.T540A|SLC25A13_uc011kik.1_Missense_Mutation_p.T431A	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	539	Helical; Name=5; (Potential).|Solcar 3.				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TCAGCAGGGGTCACTAAAGAT	0.478													C	95751286	T	C	95751286	3	2	94	1	0	0	0	0	1	0	0	0	14475	1667	58	3	424	3	SLC25A13	7	95751286	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1458002	95751286	63387377	1447	60580											
SLC25A13	10165	broad.mit.edu	37	chr7	95800793	95800793	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagacttactgtaagtttTatggccttctctggggcaac	9	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:95800793T>C	uc003uof.3	-	12	1412	c.1221A>G	c.(1219-1221)ATA>ATG	p.I407M	SLC25A13_uc003uog.3_Missense_Mutation_p.I408M|SLC25A13_uc011kik.1_Missense_Mutation_p.I299M	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	407	Solcar 1.|Helical; Name=2; (Potential).				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CTGTAAGTTTTATGGCCTTCT	0.333													C	95800793	T	C	95800793	3	2	94	1	0	0	0	0	1	0	0	0	14475	1744	61	3	834	3	SLC25A13	7	95800793	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	49507	95800793	63337870	1448	60581											
ASNS	440	broad.mit.edu	37	chr7	97482432	97482432	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttaactgaagttattccAtcactgaaggcttcttttgg	7	8	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:97482432A>G	uc003uot.3	-	12	1922	c.1416T>C	c.(1414-1416)GAT>GAC	p.D472D	ASNS_uc011kin.1_Silent_p.D389D|ASNS_uc003uou.3_Silent_p.D472D|ASNS_uc003uov.3_Silent_p.D472D|ASNS_uc011kio.1_Silent_p.D451D|ASNS_uc003uow.3_Silent_p.D451D|ASNS_uc003uox.3_Silent_p.D389D	NM_133436	NP_597680	P08243	ASNS_HUMAN	asparagine synthetase	472	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AAGTTATTCCATCACTGAAGG	0.368													G	97482432	A	G	97482432	2	3	94	1	0	0	0	0	0	0	0	1	1048	214	8	3		3	ASNS	7	97482432	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1681639	97482432	61656231	1449	60582											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97933665	97933665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcagacaagttcacggtgCtgatgcttctcactggtgtg	11	10	3	2	rs76206450		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:97933665C>T	uc003upj.2	-	12	1528	c.1265G>A	c.(1264-1266)AGC>AAC	p.S422N		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	422					filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			ovary(1)	1	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GTTCACGGTGCTGATGCTTCT	0.532													T	97933665	C	T	97933665	3	4	94	1	0	0	0	0	1	0	0	0	1302	797	28	2	282	2	BAIAP2L1	7	97933665	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	451233	97933665	61204998	1450	60583											
TMEM130	222865	broad.mit.edu	37	chr7	98460759	98460759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccctggccacaggctggCacatccagcagtcagcggca	12	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:98460759C>T	uc003upo.2	-	2	539	c.350G>A	c.(349-351)TGC>TAC	p.C117Y	TMEM130_uc011kiq.1_Missense_Mutation_p.C98Y|TMEM130_uc011kir.1_Missense_Mutation_p.C117Y|TMEM130_uc003upn.2_Intron	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	transmembrane protein 130 isoform a	117	Extracellular (Potential).					Golgi membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CACAGGCTGGCACATCCAGCA	0.592													T	98460759	C	T	98460759	3	4	94	1	0	0	0	0	1	0	0	0	16040	710	25	2	985	2	TMEM130	7	98460759	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	527094	98460759	60677904	1451	60584											
TMEM130	222865	broad.mit.edu	37	chr7	98460916	98460916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtagaggtgggcgtcagCgggcagggccaggctgccgt	21	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:98460916C>T	uc003upo.2	-	2	382	c.193G>A	c.(193-195)GCT>ACT	p.A65T	TMEM130_uc011kiq.1_Missense_Mutation_p.A46T|TMEM130_uc011kir.1_Missense_Mutation_p.A65T|TMEM130_uc003upn.2_Intron	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	transmembrane protein 130 isoform a	65	Extracellular (Potential).					Golgi membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGGCGTCAGCGGGCAGGGCC	0.642													T	98460916	C	T	98460916	3	4	94	1	0	0	0	0	1	0	0	0	16040	768	27	1	1142	1	TMEM130	7	98460916	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	157	98460916	60677747	1452	60585											
TRRAP	8295	broad.mit.edu	37	chr7	98495397	98495397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaccctcaagtgatccccGagaacacagtgcctccccca	7	17	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:98495397G>A	uc003upp.2	+	8	750	c.541G>A	c.(541-543)GAG>AAG	p.E181K	TRRAP_uc011kis.1_Missense_Mutation_p.E181K|TRRAP_uc003upr.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	181					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGTGATCCCCGAGAACACAGT	0.398													A	98495397	G	A	98495397	3	1	94	1	0	0	0	0	1	0	0	0	16598	1059	37	1	567	1	TRRAP	7	98495397	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	34481	98495397	60643266	1453	60586											
TRRAP	8295	broad.mit.edu	37	chr7	98546206	98546206	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcggggagtccattccgAgagcccctgatcaagttcct	12	13	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:98546206A>G	uc003upp.2	+	34	4874	c.4665A>G	c.(4663-4665)CGA>CGG	p.R1555R	TRRAP_uc011kis.1_Silent_p.R1537R|TRRAP_uc003upr.2_Silent_p.R1254R	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1555					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTCCATTCCGAGAGCCCCTGA	0.517													G	98546206	A	G	98546206	2	3	94	1	0	0	0	0	0	0	0	1	16598	291	11	3		3	TRRAP	7	98546206	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	50809	98546206	60592457	1454	60587											
SMURF1	57154	broad.mit.edu	37	chr7	98658259	98658259	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactttgggtccaatgtgtTtttcacagtgtcggttgagt	11	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:98658259T>C	uc003upu.1	-	3	486	c.166A>G	c.(166-168)AAC>GAC	p.N56D	SMURF1_uc003upv.1_Missense_Mutation_p.N56D|SMURF1_uc003upt.2_Missense_Mutation_p.N56D	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	56	C2.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TCCAATGTGTTTTTCACAGTG	0.522													C	98658259	T	C	98658259	3	2	94	1	0	0	0	0	1	0	0	0	14819	1841	64	3	2175	3	SMURF1	7	98658259	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	112053	98658259	60480404	1455	60588											
PTCD1	26024	broad.mit.edu	37	chr7	99022489	99022489	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaggttgcagaatgtctGcaggttggggacgaggcccc	17	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:99022489G>A	uc003uqh.2	-	6	1797	c.1666C>T	c.(1666-1668)CAG>TAG	p.Q556*	PTCD1_uc011kiw.1_Nonsense_Mutation_p.Q605*	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	556	PPR 8.									ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CAGAATGTCTGCAGGTTGGGG	0.612													A	99022489	G	A	99022489	4	1	94	1	0	0	0	0	0	1	0	0	12727	1328	46	2	448	2	PTCD1	7	99022489	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	364230	99022489	60116174	1456	60589											
ZNF789	285989	broad.mit.edu	37	chr7	99081725	99081725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtggatcctggatctacCgagaactgggaataggaagg	15	7	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:99081725C>T	uc003uqq.1	+	4	443	c.224C>T	c.(223-225)CCG>CTG	p.P75L	ZNF789_uc010lfw.1_5'UTR|ZNF789_uc003uqr.1_Missense_Mutation_p.P17L	NM_213603	NP_998768	Q5FWF6	ZN789_HUMAN	zinc finger protein 789 isoform 1	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTGGATCTACCGAGAACTGGG	0.522													T	99081725	C	T	99081725	3	4	94	1	0	0	0	0	1	0	0	0	18157	652	23	1	276	1	ZNF789	7	99081725	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	59236	99081725	60056938	1457	60590											
TRIM4	89122	broad.mit.edu	37	chr7	99516942	99516942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgcggcagaagttgtggCcgcactcgatggacaccggg	16	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:99516942C>T	uc003usd.2	-	1	213	c.83G>A	c.(82-84)GGC>GAC	p.G28D	TRIM4_uc003use.2_Missense_Mutation_p.G28D|TRIM4_uc011kjc.1_5'UTR|TRIM4_uc003usf.2_Missense_Mutation_p.G28D	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	tripartite motif protein TRIM4 isoform alpha	28	RING-type.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding			ovary(1)|kidney(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				GAAGTTGTGGCCGCACTCGAT	0.697													T	99516942	C	T	99516942	3	4	94	1	0	0	0	0	1	0	0	0	16511	739	26	2	1447	2	TRIM4	7	99516942	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	435217	99516942	59621721	1458	60591											
ZKSCAN1	7586	broad.mit.edu	37	chr7	99631140	99631140	+	Frame_Shift_Del	DEL	A	A	-													ggccagctataggaaaggacAaaaaaaccatcacaggagag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:99631139_99631139CA>C	uc003usk.1	+	5	1230	c.1011_1011CA>C	c.(1009-1011)gacfs	p.D337fs	ZKSCAN1_uc003usl.1_Frame_Shift_Del_p.D301fs|ZKSCAN1_uc003usm.1_Frame_Shift_Del_p.D124fs	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 1 (ZKSCAN1), mRNA.	337					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TAGGAAAGGACAAAAAAACCA	0.483													-	99631140	A	-	99631140	7	5	94	1	0	1	0	1	0	0	0	0	17683	131	5	0	1030	0	ZKSCAN1	7	99631140	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	114198	99631140	59507523	1459	60592											
ZNF3	7551	broad.mit.edu	37	chr7	99674943	99674943	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caccactgtcaagcagggccTgaggttcctgagatacgaga	12	11	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:99674943T>G	uc003usq.2	-	3	345	c.38A>C	c.(37-39)CAG>CCG	p.Q13P	ZNF3_uc003usp.2_Missense_Mutation_p.Q13P|ZNF3_uc003usr.2_Missense_Mutation_p.Q13P|ZNF3_uc010lgj.2_Intron|ZNF3_uc003uss.2_Intron|ZNF3_uc003ust.3_Missense_Mutation_p.Q13P	NM_032924	NP_116313	P17036	ZNF3_HUMAN	zinc finger protein 3 isoform 2	13					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AAGCAGGGCCTGAGGTTCCTG	0.373													G	99674943	T	G	99674943	3	3	94	1	0	0	0	0	1	0	0	0	17826	1580	55	5	1447	5	ZNF3	7	99674943	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	43803	99674943	59463720	1460	60593											
COPS6	10980	broad.mit.edu	37	chr7	99688867	99688871	+	Frame_Shift_Del	DEL	AACAC	AACAC	-													tcatccccttgcagtggctgAacacctgatagcacagcaca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:99688866_99688870GAACAC>G	uc003usu.3	+	7	686_690	c.655_659GAACAC>G	c.(655-660)gaacacfs	p.E219fs	DD413568_uc022aif.1_5'Flank	NM_006833	NP_006824	Q7L5N1	CSN6_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis) (COPS6), mRNA.	219	Interaction with Vpr.				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGCAGTGGCTGAACACCTGATAGCA	0.576													-	99688871	AACAC	-	99688867	7	5	94	1	0	1	0	1	0	0	0	0	3737	246	9	0	686	0	COPS6	7	99688867	Frame_Shift_Del	DEL	AACAC	TCGA-BR-8487-01A-11D-2394-08	13924	99688867	59449796	1461	60594											
MCM7	4176	broad.mit.edu	37	chr7	99696971	99696971	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcccagggtcccgactccgcTgctccatcattagccgatgc	9	17	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:99696971T>A	uc003usw.1	-	4	842	c.332A>T	c.(331-333)CAG>CTG	p.Q111L	MCM7_uc003usv.1_5'UTR|MCM7_uc003usx.1_5'UTR|AP4M1_uc011kjg.1_5'Flank|AP4M1_uc010lgl.1_5'Flank|AP4M1_uc003utb.3_5'Flank|AP4M1_uc003utc.3_5'Flank|AP4M1_uc010lgm.2_5'Flank|AP4M1_uc003utd.2_5'Flank|AP4M1_uc011kjh.1_5'Flank|AP4M1_uc003ute.3_5'Flank|AP4M1_uc003utf.3_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	111					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CCGACTCCGCTGCTCCATCAT	0.478													A	99696971	T	A	99696971	3	1	94	1	0	0	0	0	1	0	0	0	9392	1580	55	5	1875	5	MCM7	7	99696971	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	8104	99696971	59441692	1462	60595											
AP4M1	9179	broad.mit.edu	37	chr7	99704296	99704296	+	Frame_Shift_Del	DEL	C	C	-													cacagatggacgtcccagggCccccaggacctcccagccat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:99704295_99704295GC>G	uc003utb.4	+	14	1360	c.1152_1152GC>G	c.(1150-1152)gggfs	p.G384fs	AP4M1_uc010lgl.1_Frame_Shift_Del_p.G359fs|AP4M1_uc003utd.3_Frame_Shift_Del_p.G384fs|AP4M1_uc011kjh.2_Frame_Shift_Del_p.G336fs|AP4M1_uc003ute.4_Frame_Shift_Del_p.G159fs|AP4M1_uc003utf.4_Frame_Shift_Del_p.G256fs	NM_004722	NP_004713	O00189	AP4M1_HUMAN	Homo sapiens adaptor-related protein complex 4, mu 1 subunit (AP4M1), mRNA.	384	MHD.				intracellular protein transport|vesicle-mediated transport	Golgi trans cisterna|clathrin adaptor complex|coated pit	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACGTCCCAGGGCCCCCAGGAC	0.682													-	99704296	C	-	99704296	7	5	94	1	0	1	0	1	0	0	0	0	753	739	26	0	1211	0	AP4M1	7	99704296	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	7325	99704296	59434367	1463	60596											
LRCH4	4034	broad.mit.edu	37	chr7	100175504	100175504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgggccagctctgagatcCggaatgacagctctgaaaat	11	12	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100175504C>T	uc003uvj.2	-	8	1033	c.980G>A	c.(979-981)CGG>CAG	p.R327Q	LRCH4_uc010lgz.2_RNA|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_RNA	NM_002319	NP_002310	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH)	327					nervous system development	PML body	protein binding			large_intestine(1)|ovary(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCTGAGATCCGGAATGACAG	0.622													T	100175504	C	T	100175504	3	4	94	1	0	0	0	0	1	0	0	0	8935	652	23	1	1115	1	LRCH4	7	100175504	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	471208	100175504	58963159	1464	60597											
FBXO24	26261	broad.mit.edu	37	chr7	100187652	100187653	+	Frame_Shift_Ins	INS	-	-	G													cttggggttgaagagaagagINSggggaaaggaaatccgattt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100187651_100187652A>AG	uc011kjz.1	+	1	273_274	c.205_206A>AG	c.(205-207)aggfs	p.R69fs	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Frame_Shift_Ins_p.R31fs|FBXO24_uc003uvm.1_Frame_Shift_Ins_p.R31fs|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Frame_Shift_Ins_p.R19fs	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	31	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGAAGAGAAGAGGGGGAAAGGA	0.55													G	100187653	-	G	100187652	7	5	94	1	0	1	1	0	0	0	0	0	5735	1000	35	0	255	0	FBXO24	7	100187652	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	12148	100187652	58951011	1465	60598											
FBXO24	26261	broad.mit.edu	37	chr7	100192729	100192729	+	Frame_Shift_Del	DEL	G	G	-													gctcctgaccccccagaccaGgggggagtgtattttgaggt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100192728_100192728AG>A	uc011kjz.1	+	6	1138	c.1070_1070AG>A	c.(1069-1071)cagfs	p.Q357fs	FBXO24_uc003uvl.1_Intron|FBXO24_uc003uvm.1_Frame_Shift_Del_p.Q319fs|FBXO24_uc003uvn.1_Frame_Shift_Del_p.Q14fs|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Frame_Shift_Del_p.Q307fs|LOC100129845_uc022air.1_Intron	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	319						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCCAGACCAGGGGGGAGTG	0.577													-	100192729	G	-	100192729	7	5	94	1	0	1	0	1	0	0	0	0	5735	991	35	0	1140	0	FBXO24	7	100192729	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	5077	100192729	58945934	1466	60599											
TFR2	7036	broad.mit.edu	37	chr7	100228630	100228630	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtgataaggggagcctagGaggctcccctgccattcttg	14	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100228630G>A	uc003uvv.1	-	9	1193	c.1152C>T	c.(1150-1152)CTC>CTT	p.L384L	TFR2_uc010lhc.1_5'UTR|TFR2_uc003uvu.1_Silent_p.L213L	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	transferrin receptor 2	384	Extracellular (Potential).				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			ovary(1)|pancreas(1)	2	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGGAGCCTAGGAGGCTCCCCT	0.602													A	100228630	G	A	100228630	2	1	94	1	0	0	0	0	0	0	0	1	15808	1161	41	4		4	TFR2	7	100228630	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	35901	100228630	58910033	1467	60600											
ACTL6B	51412	broad.mit.edu	37	chr7	100244182	100244182	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggctcctaccggtggggTcttctgggaaagctctcgat	15	10	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100244182T>C	uc003uvy.2	-	12	1212	c.1105A>G	c.(1105-1107)ACC>GCC	p.T369A	ACTL6B_uc003uvx.1_Missense_Mutation_p.T160A|ACTL6B_uc003uvz.2_RNA	NM_016188	NP_057272	O94805	ACL6B_HUMAN	actin-like 6B	369					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			ovary(1)	1	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					ACCGGTGGGGTCTTCTGGGAA	0.612													C	100244182	T	C	100244182	3	2	94	1	0	0	0	0	1	0	0	0	199	1667	58	3	187	3	ACTL6B	7	100244182	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	15552	100244182	58894481	1468	60601											
GIGYF1	64599	broad.mit.edu	37	chr7	100280085	100280085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttgcgaatgggccgacccGataggtggctgtatgagtca	14	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100280085G>A	uc003uwg.1	-	21	3630	c.2621C>T	c.(2620-2622)TCG>TTG	p.S874L		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	874								p.S874W(1)		large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGCCGACCCGATAGGTGGCT	0.617													A	100280085	G	A	100280085	3	1	94	1	0	0	0	0	1	0	0	0	6377	1059	37	1	502	1	GIGYF1	7	100280085	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	35903	100280085	58858578	1469	60602											
GIGYF1	64599	broad.mit.edu	37	chr7	100283827	100283827	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaggcaagaaggccccagaGgcatcaaaggtgcccatttc	12	11	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100283827G>T	uc003uwg.1	-	8	1933	c.924C>A	c.(922-924)GCC>GCA	p.A308A		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	308										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AGGCCCCAGAGGCATCAAAGG	0.617													T	100283827	G	T	100283827	2	4	94	1	0	0	0	0	0	0	0	1	6377	987	35	5		5	GIGYF1	7	100283827	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3742	100283827	58854836	1470	60603											
POP7	10248	broad.mit.edu	37	chr7	100304461	100304461	+	Frame_Shift_Del	DEL	A	A	-													cagggcacacagcatggcagAaaaccgagagccccgcggtg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100304460_100304460GA>G	uc003uwh.4	+	1	269	c.7_7GA>G	c.(7-9)gaafs	p.E3fs	POP7_uc022ais.1_Frame_Shift_Del_p.E3fs	NM_005837	NP_005828	O75817	POP7_HUMAN	Homo sapiens processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae) (POP7), mRNA.	3					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	p.E3D(1)		endometrium(2)|kidney(1)|ovary(1)	4	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGCATGGCAGAAAACCGAGA	0.602													-	100304461	A	-	100304461	7	5	94	1	0	1	0	1	0	0	0	0	12254	246	9	0	10	0	POP7	7	100304461	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	20634	100304461	58834202	1471	60604											
ZAN	7455	broad.mit.edu	37	chr7	100350373	100350373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaaactcaccatccccaCggaaaaacccaccatcccca	4	18	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100350373C>T	uc003uwj.2	+	14	2810	c.2645C>T	c.(2644-2646)ACG>ATG	p.T882M	ZAN_uc003uwk.2_Missense_Mutation_p.T882M|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	882	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCATCCCCACGGAAAAACCC	0.502													T	100350373	C	T	100350373	3	4	94	1	0	0	0	0	1	0	0	0	17510	536	19	1	2695	1	ZAN	7	100350373	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	45912	100350373	58788290	1472	60605											
EPHB4	2050	broad.mit.edu	37	chr7	100417381	100417381	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcacaggagcctccgggTcggcactcccggcagcggag	17	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100417381T>C	uc003uwn.1	-	6	1586	c.1095A>G	c.(1093-1095)CGA>CGG	p.R365R	EPHB4_uc003uwm.1_Silent_p.R272R|EPHB4_uc010lhj.1_Silent_p.R365R|EPHB4_uc011kkf.1_Silent_p.R365R|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Silent_p.R365R	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	365	Extracellular (Potential).|Fibronectin type-III 1.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGCCTCCGGGTCGGCACTCCC	0.711													C	100417381	T	C	100417381	2	2	94	1	0	0	0	0	0	0	0	1	5177	1654	58	3		3	EPHB4	7	100417381	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	67008	100417381	58721282	1473	60606											
TRIP6	7205	broad.mit.edu	37	chr7	100465746	100465746	+	Frame_Shift_Del	DEL	G	G	-													tcaggggctccctgcagacaGggggggccttcgccctggaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100465745_100465745AG>A	uc003uww.3	+	2	423	c.253_253AG>A	c.(253-255)aggfs	p.R85fs	TRIP6_uc010lhk.2_5'UTR|TRIP6_uc022aiv.1_Frame_Shift_Del_p.R64fs|TRIP6_uc022ait.1_5'UTR|TRIP6_uc022aiu.1_5'UTR	NM_003302	NP_003293	Q15654	TRIP6_HUMAN	Homo sapiens thyroid hormone receptor interactor 6 (TRIP6), mRNA.	85					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCTGCAGACAGGGGGGGCCT	0.642													-	100465746	G	-	100465746	7	5	94	1	0	1	0	1	0	0	0	0	16556	1000	35	0	264	0	TRIP6	7	100465746	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	48365	100465746	58672917	1474	60607											
SRRT	51593	broad.mit.edu	37	chr7	100482099	100482099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaagaaagaagaaggaCgggctggagcaggcctaggg	17	8	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100482099C>T	uc003uwy.2	+	8	1136	c.868C>T	c.(868-870)CGG>TGG	p.R290W	SRRT_uc010lhl.1_Missense_Mutation_p.R290W|SRRT_uc003uxa.2_Missense_Mutation_p.R290W|SRRT_uc003uwz.2_Missense_Mutation_p.R290W	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	290	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						AGAAGAAGGACGGGCTGGAGC	0.597													T	100482099	C	T	100482099	3	4	94	1	0	0	0	0	1	0	0	0	15171	527	19	1	890	1	SRRT	7	100482099	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	16353	100482099	58656564	1475	60608											
SRRT	51593	broad.mit.edu	37	chr7	100482898	100482898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagcccaaggacgccgcGgggctggagtgcaagccgcg	18	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100482898G>A	uc003uwy.2	+	11	1492	c.1224G>A	c.(1222-1224)GCG>GCA	p.A408A	SRRT_uc010lhl.1_Silent_p.A407A|SRRT_uc003uxa.2_Silent_p.A407A|SRRT_uc003uwz.2_Silent_p.A408A	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	408					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						AGGACGCCGCGGGGCTGGAGT	0.607													A	100482898	G	A	100482898	2	1	94	1	0	0	0	0	0	0	0	1	15171	1103	39	1		1	SRRT	7	100482898	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	799	100482898	58655765	1476	60609											
VGF	7425	broad.mit.edu	37	chr7	100806877	100806877	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctgggagcgcttgtcCtcggcgccggcttccccgtc	12	18	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100806877C>A	uc003uxx.3	-	2	1466	c.1248G>T	c.(1246-1248)GAG>GAT	p.E416D		NM_003378	NP_003369	O15240	VGF_HUMAN	VGF nerve growth factor inducible precursor	416	Asp/Glu-rich (acidic).				response to cAMP	extracellular space|transport vesicle	growth factor activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)					AGCGCTTGTCCTCGGCGCCGG	0.388													A	100806877	C	A	100806877	3	1	94	1	0	0	0	0	1	0	0	0	17154	680	24	5	603	5	VGF	7	100806877	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	323979	100806877	58331786	1477	60610											
PLOD3	8985	broad.mit.edu	37	chr7	100859782	100859782	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtcctccaccaactgTtcgagccacatcaccccctc	4	20	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100859782T>C	uc003uyd.2	-	3	703	c.247A>G	c.(247-249)ACA>GCA	p.T83A	ZNHIT1_uc003uye.2_5'Flank|ZNHIT1_uc003uyf.2_5'Flank	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	83					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CCACCAACTGTTCGAGCCACA	0.572													C	100859782	T	C	100859782	3	2	94	1	0	0	0	0	1	0	0	0	12103	1725	60	3	2037	3	PLOD3	7	100859782	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	52905	100859782	58278881	1478	60611											
ZNHIT1	10467	broad.mit.edu	37	chr7	100867096	100867096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccggtactgcactgtgcGctgtctggggacccaccagg	14	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100867096G>A	uc003uye.2	+	4	908	c.416G>A	c.(415-417)CGC>CAC	p.R139H	ZNHIT1_uc003uyf.2_RNA	NM_006349	NP_006340	O43257	ZNHI1_HUMAN	zinc finger, HIT domain containing 1	139	HIT-type.						metal ion binding|protein binding			large_intestine(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)					TGCACTGTGCGCTGTCTGGGG	0.667													A	100867096	G	A	100867096	3	1	94	1	0	0	0	0	1	0	0	0	18203	1087	38	1	430	1	ZNHIT1	7	100867096	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	7314	100867096	58271567	1479	60612											
CUX1	1523	broad.mit.edu	37	chr7	101923346	101923346	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcagcggcagtgatgaCacggagctgcggtactcgtc	16	11	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:101923346C>T	uc003uyt.2	+	19	1717	c.1698C>T	c.(1696-1698)GAC>GAT	p.D566D	CUX1_uc011kkn.1_Silent_p.D527D|CUX1_uc003uyw.2_Silent_p.D520D|CUX1_uc003uyv.2_Silent_p.D550D|CUX1_uc003uyu.2_Silent_p.D564D|CUX1_uc003uyz.2_RNA	NM_001913	NP_001904	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform b	376					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						GCAGTGATGACACGGAGCTGC	0.632													T	101923346	C	T	101923346	2	4	94	1	0	0	0	0	0	0	0	1	4064	477	17	4		4	CUX1	7	101923346	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1056250	101923346	57215317	1480	60613											
SH2B2	10603	broad.mit.edu	37	chr7	101957767	101957767	+	Frame_Shift_Del	DEL	G	G	-													ctgctcaactggttctggcaGgggggccccggaaccacggc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:101957766_101957766AG>A	uc011kko.2	+	5	1212	c.1167_1167AG>A	c.(1165-1167)gcafs	p.A389fs		NM_020979	NP_066189	O14492	SH2B2_HUMAN	Homo sapiens SH2B adaptor protein 2 (SH2B2), mRNA.	433					blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						TGGTTCTGGCAGGGGGGCCCC	0.627													-	101957767	G	-	101957767	7	5	94	1	0	1	0	1	0	0	0	0	14228	1000	35	0	1187	0	SH2B2	7	101957767	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	34421	101957767	57180896	1481	60614											
LRWD1	222229	broad.mit.edu	37	chr7	102107885	102107885	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcggctgtcagggatgtcCgctacgggcccgagtccctc	14	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:102107885C>A	uc003uzn.2	+	4	670	c.532C>A	c.(532-534)CGC>AGC	p.R178S	ALKBH4_uc003uzl.2_5'Flank|ALKBH4_uc003uzm.2_5'Flank|LRWD1_uc003uzo.2_Missense_Mutation_p.R26S	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain	178					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			skin(1)	1						CAGGGATGTCCGCTACGGGCC	0.607											OREG0018231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	102107885	C	A	102107885	3	1	94	1	0	0	0	0	1	0	0	0	9047	652	23	5	546	5	LRWD1	7	102107885	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	150118	102107885	57030778	1482	60615											
LRRC17	10234	broad.mit.edu	37	chr7	102574541	102574541	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgacgtgtacacatatctcCatgagaaatacttagattgt	8	7	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:102574541C>A	uc003vau.2	+	2	570	c.181C>A	c.(181-183)CAT>AAT	p.H61N	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_Missense_Mutation_p.H61N	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17 isoform 1	61					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				ovary(1)	1						CACATATCTCCATGAGAAATA	0.522													A	102574541	C	A	102574541	3	1	94	1	0	0	0	0	1	0	0	0	8973	594	21	5	183	5	LRRC17	7	102574541	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	466656	102574541	56564122	1483	60616											
FBXL13	222235	broad.mit.edu	37	chr7	102669858	102669858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcttttatcatcaattccGgagtcatctaaagtaaataa	6	7	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:102669858G>A	uc003vaq.2	-	3	435	c.8C>T	c.(7-9)CCG>CTG	p.P3L	FBXL13_uc010lir.1_Missense_Mutation_p.P3L|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.P3L|FBXL13_uc003vav.2_RNA	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	3											0						CATCAATTCCGGAGTCATCTA	0.299													A	102669858	G	A	102669858	3	1	94	1	0	0	0	0	1	0	0	0	5709	1116	39	1	2271	1	FBXL13	7	102669858	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	95317	102669858	56468805	1484	60617											
MLL5	55904	broad.mit.edu	37	chr7	104752725	104752725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcacagaaccttccaGccaatactcagcaggcaact	7	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:104752725G>A	uc003vcm.2	+	27	5056	c.4522G>A	c.(4522-4524)GCC>ACC	p.A1508T	MLL5_uc010ljc.2_Missense_Mutation_p.A1508T|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.A242T	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1508	Pro-rich.				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						GAACCTTCCAGCCAATACTCA	0.458													A	104752725	G	A	104752725	3	1	94	1	0	0	0	0	1	0	0	0	9624	971	34	2	4620	2	MLL5	7	104752725	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2082867	104752725	54385938	1485	60618											
SLC26A3	1811	broad.mit.edu	37	chr7	107417105	107417105	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataataatcttttttattctTatagatgttggttcttccaa	4	5	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:107417105T>C	uc003ver.2	-	14	1772	c.1561A>G	c.(1561-1563)AAG>GAG	p.K521E	SLC26A3_uc003ves.2_Missense_Mutation_p.K486E	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	521					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)|skin(1)	4						TTTTTATTCTTATAGATGTTG	0.333													C	107417105	T	C	107417105	3	2	94	1	0	0	0	0	1	0	0	0	14518	1763	61	3	765	3	SLC26A3	7	107417105	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2664380	107417105	51721558	1486	60619											
LAMB1	3912	broad.mit.edu	37	chr7	107642156	107642156	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaactcgggttcctgagcGcgcactcgggctctgcacag	13	14	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:107642156G>A	uc003vew.2	-	3	395	c.60C>T	c.(58-60)CGC>CGT	p.R20R	LAMB1_uc003vev.2_Silent_p.R44R|LAMB1_uc003vex.2_Silent_p.R20R|LAMB1_uc010ljn.1_Silent_p.R106R	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	20					axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTCCTGAGCGCGCACTCGGG	0.637													A	107642156	G	A	107642156	2	1	94	1	0	0	0	0	0	0	0	1	8610	1074	38	1		1	LAMB1	7	107642156	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	225051	107642156	51496507	1487	60620											
NRCAM	4897	broad.mit.edu	37	chr7	107880468	107880468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcaggggcactctgcccGcagataagcgcttctttttc	10	12	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:107880468G>A	uc003vfb.2	-	4	512	c.41C>T	c.(40-42)GCG>GTG	p.A14V	NRCAM_uc003vfc.2_Missense_Mutation_p.A14V|NRCAM_uc011kmk.1_Missense_Mutation_p.A9V|NRCAM_uc003vfd.2_Missense_Mutation_p.A9V|NRCAM_uc003vfe.2_Missense_Mutation_p.A9V	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	14					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						CACTCTGCCCGCAGATAAGCG	0.428													A	107880468	G	A	107880468	3	1	94	1	0	0	0	0	1	0	0	0	10644	1087	38	1	4023	1	NRCAM	7	107880468	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	238312	107880468	51258195	1488	60621											
LRRN3	54674	broad.mit.edu	37	chr7	110763397	110763397	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttgatgctcttccaaatcTagagattctgatgattgggg	11	6	3	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:110763397T>C	uc003vft.3	+	4	1615	c.569T>C	c.(568-570)CTA>CCA	p.L190P	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.L190P|LRRN3_uc003vfs.3_Missense_Mutation_p.L190P	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	190	Extracellular (Potential).|LRR 6.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CTTCCAAATCTAGAGATTCTG	0.378													C	110763397	T	C	110763397	3	2	94	1	0	0	0	0	1	0	0	0	9036	1522	53	3	571	3	LRRN3	7	110763397	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2882929	110763397	48375266	1489	60622											
DOCK4	9732	broad.mit.edu	37	chr7	111368610	111368610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactggcaccggcagggggGccgactgttcattcacctga	14	13	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:111368610G>A	uc003vfx.2	-	52	5890	c.5621C>T	c.(5620-5622)GCC>GTC	p.A1874V	DOCK4_uc011kml.1_Missense_Mutation_p.A755V|DOCK4_uc011kmm.1_Missense_Mutation_p.A743V|DOCK4_uc003vfw.2_Missense_Mutation_p.A1286V|DOCK4_uc003vfy.2_Missense_Mutation_p.A1919V|DOCK4_uc003vfv.2_Missense_Mutation_p.A187V	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1874					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				CGGCAGGGGGGCCGACTGTTC	0.632													A	111368610	G	A	111368610	3	1	94	1	0	0	0	0	1	0	0	0	4689	1203	42	2	283	2	DOCK4	7	111368610	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	605213	111368610	47770053	1490	60623											
MDFIC	29969	broad.mit.edu	37	chr7	114655773	114655773	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgtatcctggcttgcttGttctgcgaattcctgaccct	8	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:114655773G>A	uc003vhf.2	+	5	1115	c.852G>A	c.(850-852)TTG>TTA	p.L284L		NM_199072	NP_951038	Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing protein	175	Cys-rich.				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleolus|nucleolus|nucleus	cyclin binding|Tat protein binding			ovary(1)	1						TGGCTTGCTTGTTCTGCGAAT	0.463													A	114655773	G	A	114655773	2	1	94	1	0	0	0	0	0	0	0	1	9405	1368	48	4		4	MDFIC	7	114655773	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3287163	114655773	44482890	1491	60624											
CAPZA2	830	broad.mit.edu	37	chr7	116546326	116546327	+	Frame_Shift_Ins	INS	-	-	A													tgccaataaggtgtatggcaINSaaaaaatagatggacagcaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:116546325_116546326C>CA	uc003vil.3	+	5	538_539	c.435_436C>CA	c.(433-438)ggcaaafs	p.G145fs	CAPZA2_uc011knk.2_Intron	NM_006136	NP_006127	P47755	CAZA2_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 2 (CAPZA2), mRNA.	145					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	F-actin capping protein complex|cytosol|extracellular region	actin binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			AGGTGTATGGCAAAAAAATAGA	0.317													A	116546327	-	A	116546326	7	5	94	1	0	1	1	0	0	0	0	0	2641	131	5	0	458	0	CAPZA2	7	116546326	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1890553	116546326	42592337	1492	60625											
CFTR	1080	broad.mit.edu	37	chr7	117199603	117199603	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaatttcattctgttctcAgttttcctggattatgcctg	7	8	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:117199603A>C	uc003vjd.2	+	11	1610	c.1478A>C	c.(1477-1479)CAG>CCG	p.Q493P	CFTR_uc011knq.1_5'UTR|CFTR_uc003vje.1_RNA	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	493	Cytoplasmic (Potential).|ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTCTGTTCTCAGTTTTCCTGG	0.383									Cystic_Fibrosis				C	117199603	A	C	117199603	3	2	94	1	0	0	0	0	1	0	0	0	3294	188	7	5	1520	5	CFTR	7	117199603	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	653277	117199603	41939060	1493	60626											
KCND2	3751	broad.mit.edu	37	chr7	119915475	119915475	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgcgtagtgtcatgagTatcatcgacgtggtggccat	13	7	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:119915475T>C	uc003vjj.1	+	1	1754	c.789T>C	c.(787-789)AGT>AGC	p.S263S		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	263	Helical; Name=Segment S3; (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					GTGTCATGAGTATCATCGACG	0.537													C	119915475	T	C	119915475	2	2	94	1	0	0	0	0	0	0	0	1	8019	1635	57	3		3	KCND2	7	119915475	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2715872	119915475	39223188	1494	60627											
KCND2	3751	broad.mit.edu	37	chr7	119915782	119915782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccttctggtataccatcGtcaccatgacaacactaggg	8	13	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:119915782G>A	uc003vjj.1	+	1	2061	c.1096G>A	c.(1096-1098)GTC>ATC	p.V366I		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	366					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					GTATACCATCGTCACCATGAC	0.507													A	119915782	G	A	119915782	3	1	94	1	0	0	0	0	1	0	0	0	8019	1145	40	1	1098	1	KCND2	7	119915782	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	307	119915782	39222881	1495	60628											
TSPAN12	23554	broad.mit.edu	37	chr7	120455811	120455811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgttcatatgtccaaacgCcacaagccagttctacacag	6	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:120455811C>T	uc003vjk.2	-	5	706	c.332G>A	c.(331-333)GGC>GAC	p.G111D		NM_012338	NP_036470	O95859	TSN12_HUMAN	transmembrane 4 superfamily member 12	111	Extracellular (Potential).				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction					0	all_neural(327;0.117)					TGTCCAAACGCCACAAGCCAG	0.318													T	120455811	C	T	120455811	3	4	94	1	0	0	0	0	1	0	0	0	16633	739	26	2	601	2	TSPAN12	7	120455811	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	540029	120455811	38682852	1496	60629											
C7orf58	79974	broad.mit.edu	37	chr7	120911388	120911389	+	Frame_Shift_Ins	INS	-	-	A													tgattattctggatactgcaINSaaaaaacatggctatgaagt					rs141494536	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:120911387_120911388C>CA	uc003vjq.4	+	21	3218_3219	c.2771_2772C>CA	c.(2770-2772)gcafs	p.A924fs		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	924						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					CTGGATACTGCAAAAAAACATG	0.351													A	120911389	-	A	120911388	7	5	94	1	0	1	1	0	0	0	0	0	2405	117	5	0	2900	0	C7orf58	7	120911388	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	455577	120911388	38227275	1497	60630											
FEZF1	389549	broad.mit.edu	37	chr7	121943770	121943771	+	Frame_Shift_Ins	INS	-	-	T													atccgaggttttgaacgcgaINSttttttccgacagaagctgg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:121943770_121943771insT	uc003vkd.2	-	1	795_796	c.721_722insA	c.(721-723)ATCfs	p.I241fs	FEZF1_uc003vkc.2_Frame_Shift_Ins_p.I191fs|uc010lko.1_RNA|uc003vkf.1_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1 isoform 1	241					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3						TTTGAACGCGATTTTTTCCGAC	0.495													T	121943771	-	T	121943770	7	5	94	1	0	1	1	0	0	0	0	0	5825	333	12	0	721	0	FEZF1	7	121943770	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1032382	121943770	37194893	1498	60631	282	2									
FEZF1	389549	broad.mit.edu	37	chr7	121943771	121943772	+	Frame_Shift_Ins	INS	-	-	T													tccgaggttttgaacgcgatINStttttccgacagaagctggg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:121943770_121943771A>AT	uc003vkd.3	-	0	795_796	c.721_722T>AT	c.(721-723)atcfs	p.I241fs	FEZF1_uc003vkc.3_Frame_Shift_Ins_p.I191fs|LOC154860_uc010lko.2_Non-coding_Transcript	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	241					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TTTGAACGCGATTTTTTCCGAC	0.495													T	121943772	-	T	121943771	7	5	94	1	0	1	1	0	0	0	0	0	5825	1493	52	0	722	0	FEZF1	7	121943771	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	121943771	37194892	1499	60632	282	2									
RNF133	168433	broad.mit.edu	37	chr7	122338733	122338733	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacatgcattttggattttTccctctggtggcactataac	7	9	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:122338733T>C	uc003vkj.1	-	1	476	c.240A>G	c.(238-240)GGA>GGG	p.G80G	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	ring finger protein 133	80	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			skin(1)	1						TTTGGATTTTTCCCTCTGGTG	0.458													C	122338733	T	C	122338733	2	2	94	1	0	0	0	0	0	0	0	1	13439	1770	62	3		3	RNF133	7	122338733	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	394962	122338733	36799930	1500	60633											
ASB15	142685	broad.mit.edu	37	chr7	123269126	123269126	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtattttggcgtttctAataatgacgttcattgcaca	8	8	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:123269126A>G	uc003vku.1	+	10	1370	c.1078A>G	c.(1078-1080)AAT>GAT	p.N360D	ASB15_uc003vkw.1_Missense_Mutation_p.N360D	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	360	ANK 7.				intracellular signal transduction					skin(2)|lung(1)	3						TGGCGTTTCTAATAATGACGT	0.448													G	123269126	A	G	123269126	3	3	94	1	0	0	0	0	1	0	0	0	1019	362	13	3	1104	3	ASB15	7	123269126	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	930393	123269126	35869537	1501	60634											
HYAL4	23553	broad.mit.edu	37	chr7	123517154	123517154	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtttccccttctcctggttCactaatgacactttgtctac	6	13	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:123517154C>A	uc003vlc.2	+	5	2029	c.1391C>A	c.(1390-1392)TCA>TAA	p.S464*	HYAL4_uc011knz.1_3'UTR	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	464	Helical; (Potential).				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			skin(1)	1						TCTCCTGGTTCACTAATGACA	0.423													A	123517154	C	A	123517154	4	1	94	1	0	0	0	0	0	1	0	0	7466	838	29	5	1401	5	HYAL4	7	123517154	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	248028	123517154	35621509	1502	60635											
GPR37	2861	broad.mit.edu	37	chr7	124387107	124387107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccacagtctcgcactgtcGtaggtgagggctagaacata	11	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:124387107G>A	uc003vli.2	-	2	1965	c.1314C>T	c.(1312-1314)TAC>TAT	p.Y438Y		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	438	Extracellular (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						TCGCACTGTCGTAGGTGAGGG	0.488													A	124387107	G	A	124387107	2	1	94	1	0	0	0	0	0	0	0	1	6691	1140	40	1		1	GPR37	7	124387107	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	869953	124387107	34751556	1503	60636											
GRM8	2918	broad.mit.edu	37	chr7	126746599	126746599	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacaccgctctcaccataGttcccctcagaagccagtgt	6	17	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:126746599G>A	uc003vlr.2	-	2	989	c.678C>T	c.(676-678)AAC>AAT	p.N226N	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.N226N|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_5'UTR	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	226	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCTCACCATAGTTCCCCTCAG	0.502										HNSCC(24;0.065)			A	126746599	G	A	126746599	2	1	94	1	0	0	0	0	0	0	0	1	6803	1020	36	4		4	GRM8	7	126746599	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2359492	126746599	32392064	1504	60637											
RBM28	55131	broad.mit.edu	37	chr7	127950948	127950948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccagctggttgaagcgggTttccgtcttatttcccttag	11	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:127950948T>C	uc003vmp.2	-	19	2297	c.2182A>G	c.(2182-2184)ACC>GCC	p.T728A	RBM28_uc003vmo.2_Missense_Mutation_p.T270A|RBM28_uc011koj.1_Missense_Mutation_p.T587A	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	728					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			ovary(2)	2						TTGAAGCGGGTTTCCGTCTTA	0.368													C	127950948	T	C	127950948	3	2	94	1	0	0	0	0	1	0	0	0	13128	1725	60	3	101	3	RBM28	7	127950948	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1204349	127950948	31187715	1505	60638											
IMPDH1	3614	broad.mit.edu	37	chr7	128040570	128040570	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctcagcaccacagggtcCgtgatgaagccctgttcaaa	12	12	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:128040570C>T	uc011kol.1	-	5	454	c.348G>A	c.(346-348)ACG>ACA	p.T116T	IMPDH1_uc011kom.1_Silent_p.T111T|IMPDH1_uc003vmt.2_Silent_p.T91T|IMPDH1_uc003vmu.2_Silent_p.T201T|IMPDH1_uc003vmw.2_Silent_p.T191T|IMPDH1_uc011kon.1_Silent_p.T168T|IMPDH1_uc003vmv.2_Silent_p.T165T|IMPDH1_uc003vmx.2_Silent_p.T124T|IMPDH1_uc003vmy.2_Silent_p.T132T	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	inosine monophosphate dehydrogenase 1 isoform e	116	CBS 1.		T -> M (in RP10; does not alter the enzymatic affinity of the corresponding enzyme; alters the affinity and/or the specificity of single-stranded nucleic acid).		GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			skin(2)|lung(1)|central_nervous_system(1)	4					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CCACAGGGTCCGTGATGAAGC	0.607													T	128040570	C	T	128040570	2	4	94	1	0	0	0	0	0	0	0	1	7726	639	23	1		1	IMPDH1	7	128040570	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	89622	128040570	31098093	1506	60639											
FAM71F1	84691	broad.mit.edu	37	chr7	128356940	128356940	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgggggtgacctcctcggTaccctgcctgcccctcccca	10	20	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:128356940T>C	uc003vno.1	+	2	376	c.323T>C	c.(322-324)GTA>GCA	p.V108A	FAM71F1_uc010llo.1_Missense_Mutation_p.V9A|FAM71F1_uc011koq.1_Silent_p.G32G|FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Silent_p.G29G|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Missense_Mutation_p.V108A	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	testes development-related NYD-SP18	108										skin(1)	1						ACCTCCTCGGTACCCTGCCTG	0.582													C	128356940	T	C	128356940	3	2	94	1	0	0	0	0	1	0	0	0	5612	1638	57	3	329	3	FAM71F1	7	128356940	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	316370	128356940	30781723	1507	60640											
CCDC136	64753	broad.mit.edu	37	chr7	128441353	128441353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgagatccagagtctgCggcaagcagcagaggattcc	14	10	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:128441353C>T	uc003vnv.1	+	4	827	c.460C>T	c.(460-462)CGG>TGG	p.R154W	CCDC136_uc003vnu.1_Missense_Mutation_p.R204W|CCDC136_uc003vnw.1_Missense_Mutation_p.R154W|CCDC136_uc003vnx.1_5'UTR|CCDC136_uc010llq.1_5'UTR	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	154	Glu-rich.					integral to membrane	protein binding			ovary(2)	2						CCAGAGTCTGCGGCAAGCAGC	0.493													T	128441353	C	T	128441353	3	4	94	1	0	0	0	0	1	0	0	0	2770	759	27	1	474	1	CCDC136	7	128441353	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	84413	128441353	30697310	1508	60641											
FLNC	2318	broad.mit.edu	37	chr7	128484941	128484941	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttgctgaggcccacatccCtggctcgcccttcaaagcca	9	16	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:128484941C>A	uc003vnz.3	+	21	3631	c.3422C>A	c.(3421-3423)CCT>CAT	p.P1141H	FLNC_uc003voa.3_Missense_Mutation_p.P1141H	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1141	Filamin 9.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GCCCACATCCCTGGCTCGCCC	0.632													A	128484941	C	A	128484941	3	1	94	1	0	0	0	0	1	0	0	0	5935	681	24	5	3504	5	FLNC	7	128484941	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	43588	128484941	30653722	1509	60642											
IRF5	3663	broad.mit.edu	37	chr7	128587396	128587396	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctactctgcagccgccCactctgcagccgcccgtggt	10	20	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:128587396C>T	uc003vog.2	+	7	685	c.564C>T	c.(562-564)CCC>CCT	p.P188P	IRF5_uc010llr.1_Missense_Mutation_p.P171L|IRF5_uc010lls.1_Missense_Mutation_p.P171L|IRF5_uc003voh.2_Silent_p.P172P|IRF5_uc010llt.2_Intron|IRF5_uc003voi.2_Silent_p.P172P|IRF5_uc010llu.1_Missense_Mutation_p.P171L|IRF5_uc003vok.2_3'UTR|IRF5_uc003voj.3_Silent_p.P172P|IRF5_uc010llv.1_3'UTR|IRF5_uc010llw.1_Missense_Mutation_p.P171L	NM_002200	NP_002191	Q13568	IRF5_HUMAN	interferon regulatory factor 5 isoform a	182					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						TGCAGCCGCCCACTCTGCAGC	0.667													T	128587396	C	T	128587396	2	4	94	1	0	0	0	0	0	0	0	1	7833	581	21	4		4	IRF5	7	128587396	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	102455	128587396	30551267	1510	60643											
TNPO3	23534	broad.mit.edu	37	chr7	128610259	128610259	+	Frame_Shift_Del	DEL	G	G	-													gccacatctggtagggtataGggggggaggcaaaagcagca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:128610258_128610258AG>A	uc010lly.2	-	19	3047	c.2644_2644CT>T	c.(2644-2646)tatfs	p.Y882fs	TNPO3_uc010llx.2_Frame_Shift_Del_p.Y259fs|TNPO3_uc003vol.2_Frame_Shift_Del_p.Y848fs|TNPO3_uc010llz.2_Frame_Shift_Del_p.Y784fs|TNPO3_uc003vom.2_Frame_Shift_Del_p.Y782fs	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	848					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	p.E882*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GGTAGGGTATAGGGGGGGAGG	0.488													-	128610259	G	-	128610259	7	5	94	1	0	1	0	1	0	0	0	0	16334	987	35	0	242	0	TNPO3	7	128610259	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	22863	128610259	30528404	1511	60644											
SMO	6608	broad.mit.edu	37	chr7	128845470	128845470	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacattcgtggctgactGgcggaactcgaatcgctacc	12	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:128845470G>A	uc003vor.2	+	4	1047	c.767G>A	c.(766-768)TGG>TAG	p.W256*	SMO_uc003vos.2_5'Flank	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	256	Cytoplasmic (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						GTGGCTGACTGGCGGAACTCG	0.537			Mis		skin basal cell 								A	128845470	G	A	128845470	4	1	94	1	0	0	0	0	0	1	0	0	14800	1357	47	4	781	4	SMO	7	128845470	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	235211	128845470	30293193	1512	60645											
SMO	6608	broad.mit.edu	37	chr7	128852004	128852004	+	Frame_Shift_Del	DEL	C	C	-													gcgccgccccctgagcttcaCccccctgcccctgcccccag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:128852004delC	uc003vor.2	+	12	2356	c.2076delC	c.(2074-2076)CACfs	p.H692fs	SMO_uc003vos.2_3'UTR	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	692	Cytoplasmic (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						CTGAGCTTCACCCCCCTGCCC	0.592			Mis		skin basal cell 								-	128852004	C	-	128852004	7	5	94	1	0	1	0	1	0	0	0	0	14800	506	18	0	2122	0	SMO	7	128852004	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	6534	128852004	30286659	1513	60646											
FAM40B	57464	broad.mit.edu	37	chr7	129096388	129096388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggtggtgaagagcatgCgtgctgcctccccgccctct	12	15	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:129096388C>T	uc011koy.1	+	9	983	c.943C>T	c.(943-945)CGT>TGT	p.R315C	FAM40B_uc003vow.2_Missense_Mutation_p.R315C|FAM40B_uc011koz.1_5'Flank	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	315											0						GAAGAGCATGCGTGCTGCCTC	0.602													T	129096388	C	T	129096388	3	4	94	1	0	0	0	0	1	0	0	0	5561	768	27	1	977	1	FAM40B	7	129096388	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	244384	129096388	30042275	1514	60647											
CPA1	1357	broad.mit.edu	37	chr7	130025744	130025744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggaccaagttcaactatgGcagcatcatcaaggcaattt	9	10	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:130025744G>A	uc003vpx.2	+	9	1124	c.1052G>A	c.(1051-1053)GGC>GAC	p.G351D	CPA1_uc003vpw.2_Missense_Mutation_p.G185D	NM_001868	NP_001859	P15085	CBPA1_HUMAN	carboxypeptidase A1 precursor	351					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					TTCAACTATGGCAGCATCATC	0.542													A	130025744	G	A	130025744	3	1	94	1	0	0	0	0	1	0	0	0	3789	1203	42	2	1086	2	CPA1	7	130025744	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	929356	130025744	29112919	1515	60648											
PODXL	5420	broad.mit.edu	37	chr7	131189178	131189178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggctgaccaccttcttctcCtgcatctcagaagaggtctc	8	14	4	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:131189178C>A	uc003vqw.3	-	9	1827	c.1569G>T	c.(1567-1569)CAG>CAT	p.Q523H	PODXL_uc003vqx.3_Missense_Mutation_p.Q491H	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	podocalyxin-like isoform 1 precursor	523	Cytoplasmic (Potential).				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				breast(2)|pancreas(1)	3	Melanoma(18;0.162)					CCTTCTTCTCCTGCATCTCAG	0.567													A	131189178	C	A	131189178	3	1	94	1	0	0	0	0	1	0	0	0	12180	680	24	5	111	5	PODXL	7	131189178	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1163434	131189178	27949485	1516	60649											
PODXL	5420	broad.mit.edu	37	chr7	131195724	131195724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgcgtcgaagtgggttgtCgggggctaagtggacttgta	18	5	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:131195724C>T	uc003vqw.3	-	2	827	c.569G>A	c.(568-570)CGA>CAA	p.R190Q	PODXL_uc003vqx.3_Missense_Mutation_p.R190Q	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	podocalyxin-like isoform 1 precursor	190	Thr-rich.|Extracellular (Potential).				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				breast(2)|pancreas(1)	3	Melanoma(18;0.162)					AGTGGGTTGTCGGGGGCTAAG	0.542													T	131195724	C	T	131195724	3	4	94	1	0	0	0	0	1	0	0	0	12180	884	31	1	1139	1	PODXL	7	131195724	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	6546	131195724	27942939	1517	60650											
PLXNA4	91584	broad.mit.edu	37	chr7	131887472	131887472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccactggctctcctggGcagggcagtgctggcgcagg	16	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:131887472G>A	uc003vra.3	-	12	2748	c.2519C>T	c.(2518-2520)GCC>GTC	p.A840V		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	840	PSI 3.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GCTCTCCTGGGCAGGGCAGTG	0.652													A	131887472	G	A	131887472	3	1	94	1	0	0	0	0	1	0	0	0	12122	1203	42	2	3249	2	PLXNA4	7	131887472	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	691748	131887472	27251191	1518	60651											
PLXNA4	91584	broad.mit.edu	37	chr7	132174163	132174163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgaagacgggaattccaCgcaccatgtcggacactccc	10	15	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:132174163C>T	uc003vra.3	-	3	1488	c.1259G>A	c.(1258-1260)CGT>CAT	p.R420H	PLXNA4_uc003vrc.2_Missense_Mutation_p.R420H|PLXNA4_uc003vrb.2_Missense_Mutation_p.R420H	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	420	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GGGAATTCCACGCACCATGTC	0.488													T	132174163	C	T	132174163	3	4	94	1	0	0	0	0	1	0	0	0	12122	536	19	1	4859	1	PLXNA4	7	132174163	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	286691	132174163	26964500	1519	60652											
BPGM	669	broad.mit.edu	37	chr7	134346399	134346399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgggaagcaactcaaagCgttaaactttgagtttgatc	10	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:134346399C>T	uc003vrv.2	+	3	681	c.140C>T	c.(139-141)GCG>GTG	p.A47V	BPGM_uc003vrw.2_Missense_Mutation_p.A47V|BPGM_uc003vrx.2_Missense_Mutation_p.A47V	NM_199186	NP_954655	P07738	PMGE_HUMAN	bisphosphoglycerate mutase	47					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity				0						CAACTCAAAGCGTTAAACTTT	0.483													T	134346399	C	T	134346399	3	4	94	1	0	0	0	0	1	0	0	0	1488	768	27	1	142	1	BPGM	7	134346399	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2172236	134346399	24792264	1520	60653											
CALD1	800	broad.mit.edu	37	chr7	134625972	134625972	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacccacaaacttaaacatActgagaatactttcaggtaa	5	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:134625972A>G	uc003vrz.2	+	7	1975	c.1516A>G	c.(1516-1518)ACT>GCT	p.T506A	CALD1_uc003vry.2_Missense_Mutation_p.T251A|CALD1_uc003vsa.2_Missense_Mutation_p.T277A|CALD1_uc003vsb.2_Missense_Mutation_p.T251A|CALD1_uc010lmm.2_Missense_Mutation_p.T277A|CALD1_uc011kpt.1_Missense_Mutation_p.T25A|CALD1_uc003vsc.2_Missense_Mutation_p.T271A|CALD1_uc003vsd.2_Missense_Mutation_p.T245A|CALD1_uc011kpu.1_Missense_Mutation_p.T256A|CALD1_uc011kpv.1_Missense_Mutation_p.T115A|CALD1_uc003vse.2_Missense_Mutation_p.T370A	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	506					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						ACTTAAACATACTGAGAATAC	0.363													G	134625972	A	G	134625972	3	3	94	1	0	0	0	0	1	0	0	0	2581	391	14	3	1591	3	CALD1	7	134625972	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	279573	134625972	24512691	1521	60654											
TMEM140	55281	broad.mit.edu	37	chr7	134849267	134849267	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcctcgtgattgtggtcaTctgcctgatgttttacgctc	10	10	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:134849267T>C	uc003vsi.2	+	2	355	c.74T>C	c.(73-75)ATC>ACC	p.I25T	C7orf49_uc003vsh.2_Intron	NM_018295	NP_060765	Q9NV12	TM140_HUMAN	transmembrane protein 140	25	Helical; (Potential).					integral to membrane				large_intestine(1)	1						ATTGTGGTCATCTGCCTGATG	0.577													C	134849267	T	C	134849267	3	2	94	1	0	0	0	0	1	0	0	0	16052	1435	50	3	76	3	TMEM140	7	134849267	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	223295	134849267	24289396	1522	60655											
TMEM140	55281	broad.mit.edu	37	chr7	134849483	134849483	+	Frame_Shift_Del	DEL	C	C	-													cctggtcctcaccctctttgCcccccagcctctcctcctag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:134849482_134849482GC>G	uc003vsi.3	+	1	570	c.289_289GC>G	c.(289-291)gccfs	p.A97fs	C7orf49_uc003vsh.3_Intron|TMEM140_uc022aly.1_Frame_Shift_Del_p.A97fs	NM_018295	NP_060765	Q9NV12	TM140_HUMAN	Homo sapiens transmembrane protein 140 (TMEM140), mRNA.	97						integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						CACCCTCTTTGCCCCCCAGCC	0.672													-	134849483	C	-	134849483	7	5	94	1	0	1	0	1	0	0	0	0	16052	739	26	0	292	0	TMEM140	7	134849483	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	216	134849483	24289180	1523	60656											
C7orf49	78996	broad.mit.edu	37	chr7	134851448	134851448	+	Frame_Shift_Del	DEL	C	C	-													tgctacaggcagagctggaaCcccccggcctctgggaaggg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:134851447_134851447AC>A	uc003vsl.3	-	3	703	c.390_390GT>T	c.(388-390)ggtfs	p.G130fs	C7orf49_uc003vsh.3_Intron|C7orf49_uc003vsj.3_Frame_Shift_Del_p.G101fs|C7orf49_uc022alz.1_3'UTR|C7orf49_uc022ama.1_Frame_Shift_Del_p.G75fs|C7orf49_uc022amb.1_3'UTR|C7orf49_uc003vsm.3_3'UTR|C7orf49_uc003vso.3_Frame_Shift_Del_p.G75fs|C7orf49_uc003vsk.3_3'UTR	NM_024033	NP_001230684	Q9BWK5	MRI_HUMAN	Homo sapiens chromosome 7 open reading frame 49 (C7orf49), transcript variant 1, mRNA.	130						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						CAGAGCTGGAACCCCCCGGCC	0.592													-	134851448	C	-	134851448	7	5	94	1	0	1	0	1	0	0	0	0	2398	507	18	0	88	0	C7orf49	7	134851448	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	1965	134851448	24287215	1524	60657											
NUP205	23165	broad.mit.edu	37	chr7	135333151	135333151	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttttgtgtcaccgctaGcttcaggctgatgcaatcaa	9	10	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:135333151G>A	uc003vsw.2	+	43	5918	c.5887_splice	c.e43-1	p.L1963_splice	NUP205_uc003vsx.2_Splice_Site	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						GTCACCGCTAGCTTCAGGCTG	0.313													A	135333151	G	A	135333151	5	1	94	1	0	0	0	0	0	0	1	0	10759	985	34	2	6056	2	NUP205	7	135333151	Splice_Site	SNP	G	TCGA-BR-8487-01A-11D-2394-08	481703	135333151	23805512	1525	60658											
SLC13A4	26266	broad.mit.edu	37	chr7	135370392	135370392	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtgggaggctgctcagggAcaacatctggttcccaatcc	13	12	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:135370392A>G	uc003vta.2	-	14	2172	c.1483T>C	c.(1483-1485)TCC>CCC	p.S495P	SLC13A4_uc003vtb.2_Missense_Mutation_p.S496P|PL-5283_uc003vsz.3_Intron	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate	495						integral to plasma membrane	sodium:sulfate symporter activity				0						CTGCTCAGGGACAACATCTGG	0.522													G	135370392	A	G	135370392	3	3	94	1	0	0	0	0	1	0	0	0	14394	275	10	3	409	3	SLC13A4	7	135370392	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	37241	135370392	23768271	1526	60659											
AKR1D1	6718	broad.mit.edu	37	chr7	137790156	137790156	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacaagccaggactcaaacAcaagccagtcagcaaccagg	9	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:137790156A>G	uc003vtz.2	+	5	629	c.560A>G	c.(559-561)CAC>CGC	p.H187R	AKR1D1_uc011kqb.1_Missense_Mutation_p.H187R|AKR1D1_uc011kqc.1_RNA|AKR1D1_uc011kqd.1_RNA|AKR1D1_uc011kqe.1_Missense_Mutation_p.H187R|AKR1D1_uc011kqf.1_Intron|AKR1D1_uc010lmy.1_RNA	NM_005989	NP_005980	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	187					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			skin(1)	1						GGACTCAAACACAAGCCAGTC	0.527													G	137790156	A	G	137790156	3	3	94	1	0	0	0	0	1	0	0	0	473	159	6	3	578	3	AKR1D1	7	137790156	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	2419764	137790156	21348507	1527	60660											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138768595	138768595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggatgttctggaccacgtCggggttcagcccgtgctccc	13	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:138768595C>T	uc003vun.2	-	3	1016	c.628G>A	c.(628-630)GAC>AAC	p.D210N	ZC3HAV1_uc003vup.2_Missense_Mutation_p.D210N	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	zinc finger antiviral protein isoform 1	210					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1						TGGACCACGTCGGGGTTCAGC	0.542													T	138768595	C	T	138768595	3	4	94	1	0	0	0	0	1	0	0	0	17572	884	31	1	2128	1	ZC3HAV1	7	138768595	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	978439	138768595	20370068	1528	60661											
KLRG2	346689	broad.mit.edu	37	chr7	139168208	139168208	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgctcgagggctccaggcCtgcgcccgccgccttctcca	11	19	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:139168208C>A	uc003vvb.2	-	1	250	c.181G>T	c.(181-183)GGC>TGC	p.G61C	KLRG2_uc010lnc.2_Missense_Mutation_p.G61C	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G,	61	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)	1	Melanoma(164;0.233)					GGCTCCAGGCCTGCGCCCGCC	0.741													A	139168208	C	A	139168208	3	1	94	1	0	0	0	0	1	0	0	0	8422	681	24	5	1068	5	KLRG2	7	139168208	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	399613	139168208	19970455	1529	60662											
HIPK2	28996	broad.mit.edu	37	chr7	139416624	139416624	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgggtttgggaccggcaaGgaggtgctgacggttgtggt	19	6	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:139416624G>T	uc003vvf.3	-	2	384	c.210C>A	c.(208-210)TCC>TCA	p.S70S	HIPK2_uc003vvd.3_Silent_p.S70S	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	70					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					GGACCGGCAAGGAGGTGCTGA	0.587													T	139416624	G	T	139416624	2	4	94	1	0	0	0	0	0	0	0	1	7117	987	35	5		5	HIPK2	7	139416624	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	248416	139416624	19722039	1530	60663											
TBXAS1	6916	broad.mit.edu	37	chr7	139719836	139719836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctattttaggtaccgctgcaGctagaatccaaatctgccct	7	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:139719836G>A	uc011kqv.1	+	14	1844	c.1680G>A	c.(1678-1680)CAG>CAA	p.Q560Q	TBXAS1_uc003vvh.2_Silent_p.Q514Q|TBXAS1_uc010lne.2_Silent_p.Q446Q|TBXAS1_uc003vvi.2_Silent_p.Q514Q|TBXAS1_uc003vvj.2_Missense_Mutation_p.S460N|TBXAS1_uc011kqw.1_Silent_p.Q494Q	NM_001130966	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1, platelet isoform	513	Cytoplasmic (Potential).				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			ovary(2)|breast(1)	3	Melanoma(164;0.0142)					TACCGCTGCAGCTAGAATCCA	0.338													A	139719836	G	A	139719836	2	1	94	1	0	0	0	0	0	0	0	1	15661	971	34	2		2	TBXAS1	7	139719836	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	303212	139719836	19418827	1531	60664											
PARP12	64761	broad.mit.edu	37	chr7	139741630	139741630	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggtactggctgactcagaGcacaggatcctacagaagaa	11	9	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:139741630G>T	uc003vvl.1	-	6	1870	c.996C>A	c.(994-996)TGC>TGA	p.C332*	PARP12_uc003vvk.1_Nonsense_Mutation_p.C118*|PARP12_uc010lnf.1_RNA	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	poly ADP-ribose polymerase 12	332	WWE 1.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)	3	Melanoma(164;0.0142)					CTGACTCAGAGCACAGGATCC	0.527													T	139741630	G	T	139741630	4	4	94	1	0	0	0	0	0	1	0	0	11457	963	34	5	1137	5	PARP12	7	139741630	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	21794	139741630	19397033	1532	60665											
DENND2A	27147	broad.mit.edu	37	chr7	140221778	140221778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctttgcggaaggcctcccGctgcagggttctctcctcac	11	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:140221778G>A	uc010lnj.2	-	16	2933	c.2788C>T	c.(2788-2790)CGG>TGG	p.R930W	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.R930W|DENND2A_uc003vvw.2_Missense_Mutation_p.R930W	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	930	dDENN.									ovary(3)|breast(1)	4	Melanoma(164;0.00956)					AAGGCCTCCCGCTGCAGGGTT	0.587													A	140221778	G	A	140221778	3	1	94	1	0	0	0	0	1	0	0	0	4429	1086	38	1	253	1	DENND2A	7	140221778	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	480148	140221778	18916885	1533	60666											
DENND2A	27147	broad.mit.edu	37	chr7	140285507	140285507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggttctccttcattggcGgatctgtgttcaaaggcaat	11	8	4	0	rs146125611	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:140285507G>A	uc010lnj.2	-	3	1272	c.1127C>T	c.(1126-1128)CCG>CTG	p.P376L	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.P376L|DENND2A_uc003vvw.2_Missense_Mutation_p.P376L|DENND2A_uc003vvx.2_Missense_Mutation_p.P376L	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	376										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					CTTCATTGGCGGATCTGTGTT	0.483													A	140285507	G	A	140285507	3	1	94	1	0	0	0	0	1	0	0	0	4429	1116	39	1	1966	1	DENND2A	7	140285507	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	63729	140285507	18853156	1534	60667											
BRAF	673	broad.mit.edu	37	chr7	140454015	140454015	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggtctctgtggatgatTgacttggcgtgtaagtaact	13	5	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:140454015T>C	uc003vwc.3	-	14	1774	c.1713A>G	c.(1711-1713)TCA>TCG	p.S571S		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	571	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	TGTGGATGATTGACTTGGCGT	0.393		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				C	140454015	T	C	140454015	2	2	94	1	0	0	0	0	0	0	0	1	1496	1799	63	3		3	BRAF	7	140454015	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	168508	140454015	18684648	1535	60668											
BRAF	673	broad.mit.edu	37	chr7	140487348	140487348	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacctgaaatcactacttacCtccatcaccacgaaatcctt	2	15	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:140487348C>A	uc003vwc.3	-	9	1238	c.1177G>T	c.(1177-1179)GGA>TGA	p.G393*		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	393					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	CACTACTTACCTCCATCACCA	0.343		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				A	140487348	C	A	140487348	4	1	94	1	0	0	0	0	0	1	0	0	1496	695	24	5	1163	5	BRAF	7	140487348	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	33333	140487348	18651315	1536	60669											
MGAM	8972	broad.mit.edu	37	chr7	141754637	141754637	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagcacccctgagggtcaActctatgatgtgctcattaa	8	12	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:141754637A>G	uc003vwy.2	+	27	3297	c.3243A>G	c.(3241-3243)CAA>CAG	p.Q1081Q		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1081	Glucoamylase.|Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGAGGGTCAACTCTATGATG	0.458													G	141754637	A	G	141754637	2	3	94	1	0	0	0	0	0	0	0	1	9541	40	2	3		3	MGAM	7	141754637	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1267289	141754637	17384026	1537	60670											
TRPV6	55503	broad.mit.edu	37	chr7	142574967	142574967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagagacactggccctgcGggcaagcagggctcgcacca	15	14	0	1	rs141260669	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:142574967G>A	uc003wbx.1	-	4	631	c.415C>T	c.(415-417)CGC>TGC	p.R139C	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_Missense_Mutation_p.R10C	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	139	ANK 3.|Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					CTGGCCCTGCGGGCAAGCAGG	0.527													A	142574967	G	A	142574967	3	1	94	1	0	0	0	0	1	0	0	0	16597	1116	39	1	1810	1	TRPV6	7	142574967	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	820330	142574967	16563696	1538	60671											
KEL	3792	broad.mit.edu	37	chr7	142651037	142651037	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caaccagtcgatggcgggggCcatttccttagaggagggac	15	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:142651037C>G	uc003wcb.2	-	9	1141	c.931G>C	c.(931-933)GCC>CCC	p.A311P		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	311	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)					ATGGCGGGGGCCATTTCCTTA	0.532													G	142651037	C	G	142651037	3	3	94	1	0	0	0	0	1	0	0	0	8142	739	26	5	1311	5	KEL	7	142651037	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	76070	142651037	16487626	1539	60672											
EPHA1	2041	broad.mit.edu	37	chr7	143097047	143097047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgaggtagaggccacggcGggtcaggcggcccagagagc	19	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:143097047G>A	uc003wcz.2	-	4	619	c.532C>T	c.(532-534)CGC>TGC	p.R178C		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	178	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGGCCACGGCGGGTCAGGCGG	0.622													A	143097047	G	A	143097047	3	1	94	1	0	0	0	0	1	0	0	0	5165	1116	39	1	2458	1	EPHA1	7	143097047	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	446010	143097047	16041616	1540	60673											
FAM115A	9747	broad.mit.edu	37	chr7	143573685	143573685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcataagggcctcgaaggcaGcagagggagtcgccatggct	15	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:143573685G>A	uc003wdo.1	-	2	150	c.17C>T	c.(16-18)GCT>GTT	p.A6V	FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Missense_Mutation_p.A6V	NM_014719	NP_055534	Q9Y4C2	F115A_HUMAN	hypothetical protein LOC9747	6											0	Melanoma(164;0.0903)					CTCGAAGGCAGCAGAGGGAGT	0.468													A	143573685	G	A	143573685	3	1	94	1	0	0	0	0	1	0	0	0	5405	971	34	2	2780	2	FAM115A	7	143573685	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	476638	143573685	15564978	1541	60674											
OR2A25	392138	broad.mit.edu	37	chr7	143771510	143771510	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcctctcacacctggcGgtcgtcgacatcgcctgtgc	9	16	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:143771510G>A	uc011ktx.1	+	1	198	c.198G>A	c.(196-198)GCG>GCA	p.A66A		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A,	66	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)					CACACCTGGCGGTCGTCGACA	0.577													A	143771510	G	A	143771510	2	1	94	1	0	0	0	0	0	0	0	1	10978	1103	39	1		1	OR2A25	7	143771510	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	197825	143771510	15367153	1542	60675											
OR2A12	346525	broad.mit.edu	37	chr7	143793059	143793059	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaacccgatcctgaaccccCtcatctacagccttaggaat	5	16	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:143793059C>A	uc011kty.1	+	1	859	c.859C>A	c.(859-861)CTC>ATC	p.L287I		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	Melanoma(164;0.0783)					CCTGAACCCCCTCATCTACAG	0.468													A	143793059	C	A	143793059	3	1	94	1	0	0	0	0	1	0	0	0	10975	681	24	5	861	5	OR2A12	7	143793059	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	21549	143793059	15345604	1543	60676											
CNTNAP2	26047	broad.mit.edu	37	chr7	148112638	148112638	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcggcagagagcgcggacgCcgccatcatgaacaacgacc	13	14	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:148112638C>G	uc003weu.1	+	24	4442	c.3926C>G	c.(3925-3927)GCC>GGC	p.A1309G	CNTNAP2_uc003wev.1_Missense_Mutation_p.A86G	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	1309	Cytoplasmic (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGCGCGGACGCCGCCATCATG	0.557										HNSCC(39;0.1)			G	148112638	C	G	148112638	3	3	94	1	0	0	0	0	1	0	0	0	3647	739	26	5	4020	5	CNTNAP2	7	148112638	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4319579	148112638	11026025	1544	60677											
CUL1	8454	broad.mit.edu	37	chr7	148451198	148451198	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggcctggaattatataaaCgacttaaggaatttttgaag	9	4	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:148451198C>T	uc010lpg.2	+	3	797	c.271C>T	c.(271-273)CGA>TGA	p.R91*	CUL1_uc003wey.2_Nonsense_Mutation_p.R91*|CUL1_uc003wez.2_Translation_Start_Site	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ATTATATAAACGACTTAAGGA	0.368													T	148451198	C	T	148451198	4	4	94	1	0	0	0	0	0	1	0	0	4054	528	19	1	277	1	CUL1	7	148451198	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	338560	148451198	10687465	1545	60678											
PDIA4	9601	broad.mit.edu	37	chr7	148701253	148701255	+	In_Frame_Del	DEL	TTG	TTG	-													ccacgaccttgacgggtcccTtgttgttcttgggcactggc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:148701252_148701254CTTG>C	uc003wff.2	-	9	1852_1854	c.1570_1572CAAG>G	c.(1570-1572)aag>G	p.K524del		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	524	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TGACGGGTCCCTTGTTGTTCTTG	0.562													-	148701255	TTG	-	148701253	7	5	94	1	0	1	0	1	0	0	0	0	11670	1609	56	0	370	0	PDIA4	7	148701253	In_Frame_Del	DEL	TTG	TCGA-BR-8487-01A-11D-2394-08	250055	148701253	10437410	1546	60679											
ZNF398	57541	broad.mit.edu	37	chr7	148875815	148875817	+	In_Frame_Del	DEL	CTC	CTC	-													ggttccagtccctttctcttCtccaccagcagcagcaaagg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:148875814_148875816TCTC>T	uc011kum.2	+	6	1006_1008	c.865_867TCTC>T	c.(865-867)tct>T	p.S289del	ZNF398_uc011kul.2_In_Frame_Del_p.S113del|ZNF398_uc003wfl.3_In_Frame_Del_p.S284del	NM_020781	NP_065832	Q8TD17	ZN398_HUMAN	Homo sapiens zinc finger protein 398 (ZNF398), transcript variant 2, mRNA.	284					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CCCTTTCTCTTCTCCACCAGCAG	0.488													-	148875817	CTC	-	148875815	7	5	94	1	0	1	0	1	0	0	0	0	17882	913	32	0	873	0	ZNF398	7	148875815	In_Frame_Del	DEL	CTC	TCGA-BR-8487-01A-11D-2394-08	174562	148875815	10262848	1547	60680											
ZNF398	57541	broad.mit.edu	37	chr7	148876153	148876153	+	Frame_Shift_Del	DEL	C	C	-													aggaccatgccagcgagacaCcccccacctgcccacactgt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:148876152_148876152AC>A	uc011kum.2	+	6	1344	c.1203_1203AC>A	c.(1201-1203)acafs	p.T401fs	ZNF398_uc011kul.2_Frame_Shift_Del_p.T225fs|ZNF398_uc003wfl.3_Frame_Shift_Del_p.T396fs	NM_020781	NP_065832	Q8TD17	ZN398_HUMAN	Homo sapiens zinc finger protein 398 (ZNF398), transcript variant 2, mRNA.	396					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CCAGCGAGACACCCCCCACCT	0.587													-	148876153	C	-	148876153	7	5	94	1	0	1	0	1	0	0	0	0	17882	507	18	0	1211	0	ZNF398	7	148876153	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	338	148876153	10262510	1548	60681											
ZNF398	57541	broad.mit.edu	37	chr7	148876238	148876238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccataacagcactgagcGtcctttcccctgtcctgatt	8	14	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:148876238G>A	uc003wfl.2	+	6	1549	c.1274G>A	c.(1273-1275)CGT>CAT	p.R425H	ZNF398_uc011kul.1_Missense_Mutation_p.R254H|ZNF398_uc011kum.1_Missense_Mutation_p.R430H	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	zinc finger 398 isoform a	425					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			AGCACTGAGCGTCCTTTCCCC	0.592													A	148876238	G	A	148876238	3	1	94	1	0	0	0	0	1	0	0	0	17882	1145	40	1	1296	1	ZNF398	7	148876238	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	85	148876238	10262425	1549	60682											
ZNF282	8427	broad.mit.edu	37	chr7	148895829	148895829	+	Frame_Shift_Del	DEL	G	G	-													cggctgcccccgggcagcaaGggggaggcccccaaggtatg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:148895828_148895828AG>A	uc003wfm.3	+	1	674	c.569_569AG>A	c.(568-570)aagfs	p.K190fs	ZNF282_uc011kun.1_Frame_Shift_Del_p.K190fs|ZNF282_uc003wfn.3_Frame_Shift_Del_p.K130fs|ZNF282_uc003wfo.3_Frame_Shift_Del_p.K130fs	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	190					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CCGGGCAGCAAGGGGGAGGCC	0.592													-	148895829	G	-	148895829	7	5	94	1	0	1	0	1	0	0	0	0	17816	991	35	0	576	0	ZNF282	7	148895829	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	19591	148895829	10242834	1550	60683											
SSPO	23145	broad.mit.edu	37	chr7	149477454	149477454	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtggctgtgagtgcccgCgaggcctcttctggaatggc	16	10	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:149477454C>T	uc010lpk.2	+	12	1525	c.1525C>T	c.(1525-1527)CGA>TGA	p.R509*	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	509	TIL 1.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGAGTGCCCGCGAGGCCTCTT	0.662													T	149477454	C	T	149477454	4	4	94	1	0	0	0	0	0	1	0	0	15188	760	27	1	1569	1	SSPO	7	149477454	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	581625	149477454	9661209	1551	60684											
SSPO	23145	broad.mit.edu	37	chr7	149497409	149497409	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggacccttcccacctgtGcagtgtggccccggccagac	11	18	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:149497409G>A	uc010lpk.2	+	50	7167	c.7167G>A	c.(7165-7167)GTG>GTA	p.V2389V		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2389					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCCACCTGTGCAGTGTGGCC	0.672													A	149497409	G	A	149497409	2	1	94	1	0	0	0	0	0	0	0	1	15188	1306	46	2		2	SSPO	7	149497409	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	19955	149497409	9641254	1552	60685											
SSPO	23145	broad.mit.edu	37	chr7	149500066	149500066	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggccatgtgggaggcctgGggaccctgcagcgtctcctg	17	12	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:149500066G>T	uc010lpk.2	+	53	7692	c.7692G>T	c.(7690-7692)TGG>TGT	p.W2564C		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2564	TSP type-1 5.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGAGGCCTGGGGACCCTGCA	0.677													T	149500066	G	T	149500066	3	4	94	1	0	0	0	0	1	0	0	0	15188	1241	43	5	7894	5	SSPO	7	149500066	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2657	149500066	9638597	1553	60686											
SSPO	23145	broad.mit.edu	37	chr7	149501110	149501110	+	Frame_Shift_Del	DEL	G	G	-													ctccaaccctccggcagcctGggggggtgccccgtgtgaag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:149501110delG	uc010lpk.2	+	57	8246	c.8246delG	c.(8245-8247)TGGfs	p.W2749fs		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2749	TSP type-1 6.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCGGCAGCCTGGGGGGGTGCC	0.667													-	149501110	G	-	149501110	7	5	94	1	0	1	0	1	0	0	0	0	15188	1357	47	0	8464	0	SSPO	7	149501110	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	1044	149501110	9637553	1554	60687											
SSPO	23145	broad.mit.edu	37	chr7	149508059	149508059	+	Frame_Shift_Del	DEL	C	C	-													gcccacgaggggcacctctaCcccccgggcagcactgtggt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:149508058_149508058AC>A	uc010lpk.3	+	65	9443	c.9443_9443AC>A	c.(9442-9444)tacfs	p.Y3148fs		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3151					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCACCTCTACCCCCCGGGC	0.607													-	149508059	C	-	149508059	7	5	94	1	0	1	0	1	0	0	0	0	15188	518	18	0	9709	0	SSPO	7	149508059	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	6949	149508059	9630604	1555	60688											
REPIN1	29803	broad.mit.edu	37	chr7	150069776	150069776	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcaccggcgcatccacacCggcgagaagccctacgtctg	12	17	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150069776C>T	uc010lpq.1	+	4	1935	c.1446C>T	c.(1444-1446)ACC>ACT	p.T482T	REPIN1_uc003whd.2_Silent_p.T471T|REPIN1_uc010lpr.1_Silent_p.T539T|REPIN1_uc003whc.2_Silent_p.T482T|REPIN1_uc003whe.2_Silent_p.T482T	NM_013400	NP_037532	Q9BWE0	REPI1_HUMAN	replication initiator 1 isoform 1	482					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			pancreas(1)	1	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCATCCACACCGGCGAGAAGC	0.697													T	150069776	C	T	150069776	2	4	94	1	0	0	0	0	0	0	0	1	13227	639	23	1		1	REPIN1	7	150069776	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	561717	150069776	9068887	1556	60689											
TMEM176B	28959	broad.mit.edu	37	chr7	150493585	150493585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactcctggtggatgtggaCgttgacgtgggtgggctggg	20	6	0	2	rs142435838		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150493585C>T	uc003wht.3	-	2	239	c.73G>A	c.(73-75)GTC>ATC	p.V25I	TMEM176B_uc003whu.3_Missense_Mutation_p.V25I|TMEM176B_uc003whv.3_Missense_Mutation_p.V25I|TMEM176B_uc003whw.3_Missense_Mutation_p.V25I	NM_001101313	NP_001094783	Q3YBM2	T176B_HUMAN	transmembrane protein 176B isoform a	25					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGATGTGGACGTTGACGTGG	0.532													T	150493585	C	T	150493585	3	4	94	1	0	0	0	0	1	0	0	0	16090	536	19	1	763	1	TMEM176B	7	150493585	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	423809	150493585	8645078	1557	60690											
ABP1	26	broad.mit.edu	37	chr7	150554719	150554719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcactcatgagttagccccCggcatcgactgcccggagac	11	15	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150554719C>T	uc003why.1	+	3	5379	c.1161C>T	c.(1159-1161)CCC>CCT	p.P387P	ABP1_uc003whz.1_Silent_p.P387P|ABP1_uc003wia.1_Silent_p.P387P	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	387					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	AGTTAGCCCCCGGCATCGACT	0.602													T	150554719	C	T	150554719	2	4	94	1	0	0	0	0	0	0	0	1	98	639	23	1		1	ABP1	7	150554719	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	61134	150554719	8583944	1558	60691											
ABP1	26	broad.mit.edu	37	chr7	150555029	150555029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtccacgccaccttctacAcccccgaggggctgcgccac	9	20	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150555029A>G	uc003why.1	+	3	5689	c.1471A>G	c.(1471-1473)ACC>GCC	p.T491A	ABP1_uc003whz.1_Missense_Mutation_p.T491A|ABP1_uc003wia.1_Missense_Mutation_p.T491A	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	491					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CACCTTCTACACCCCCGAGGG	0.562													G	150555029	A	G	150555029	3	3	94	1	0	0	0	0	1	0	0	0	98	159	6	3	1473	3	ABP1	7	150555029	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	310	150555029	8583634	1559	60692											
ABP1	26	broad.mit.edu	37	chr7	150558050	150558050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctggtggcctgggtgaCggtgggcttcctgcacatcc	16	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150558050C>T	uc003why.1	+	6	6227	c.2009C>T	c.(2008-2010)ACG>ATG	p.T670M	ABP1_uc003whz.1_Missense_Mutation_p.T670M|ABP1_uc003wia.1_Missense_Mutation_p.T689M	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	670					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	p.T670T(1)		ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GCCTGGGTGACGGTGGGCTTC	0.602													T	150558050	C	T	150558050	3	4	94	1	0	0	0	0	1	0	0	0	98	536	19	1	2023	1	ABP1	7	150558050	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3021	150558050	8580613	1560	60693											
KCNH2	3757	broad.mit.edu	37	chr7	150656686	150656686	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagccagctggtgggggggCcccggtggttggtgtcatga	19	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150656686C>G	uc003wic.2	-	3	459	c.446G>C	c.(445-447)GGC>GCC	p.G149A	KCNH2_uc011kux.1_Missense_Mutation_p.G53A|KCNH2_uc003wie.2_Missense_Mutation_p.G149A	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	149	Cytoplasmic (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGTGGGGGGGCCCCGGTGGTT	0.582													G	150656686	C	G	150656686	3	3	94	1	0	0	0	0	1	0	0	0	8032	739	26	5	3466	5	KCNH2	7	150656686	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	98636	150656686	8481977	1561	60694											
ATG9B	285973	broad.mit.edu	37	chr7	150721263	150721263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgtggcaagactgagaaGcccctgtcccctgtagcact	10	14	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150721263G>A	uc011kvc.1	-	1	324	c.248C>T	c.(247-249)GCT>GTT	p.A83V	ATG9B_uc003wig.3_5'Flank	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	ATG9 autophagy related 9 homolog B	83	Pro-rich.|Cytoplasmic (By similarity).				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				ovary(1)	1	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGACTGAGAAGCCCCTGTCCC	0.612													A	150721263	G	A	150721263	3	1	94	1	0	0	0	0	1	0	0	0	1103	971	34	2	2577	2	ATG9B	7	150721263	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	64577	150721263	8417400	1562	60695											
ABCB8	11194	broad.mit.edu	37	chr7	150737962	150737962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaaagacttcaccctgaCgctgccccctggcaagatcg	10	15	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150737962C>T	uc003wil.3	+	13	1580	c.1487C>T	c.(1486-1488)ACG>ATG	p.T496M	ABCB8_uc010lpw.1_Silent_p.D371D|ABCB8_uc010lpx.2_Missense_Mutation_p.T479M|ABCB8_uc011kvd.1_Missense_Mutation_p.T391M|ABCB8_uc003wim.3_Missense_Mutation_p.T274M|ABCB8_uc003wik.3_Missense_Mutation_p.T479M	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	496	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCACCCTGACGCTGCCCCCT	0.657													T	150737962	C	T	150737962	3	4	94	1	0	0	0	0	1	0	0	0	47	536	19	1	1482	1	ABCB8	7	150737962	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	16699	150737962	8400701	1563	60696											
ACCN3	9311	broad.mit.edu	37	chr7	150749682	150749682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccacccctccctgtgcCgtcaccaagactctctccgc	5	23	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150749682C>T	uc003win.2	+	11	1907	c.1539C>T	c.(1537-1539)GCC>GCT	p.A513A	ACCN3_uc003wio.2_Missense_Mutation_p.P520L|ACCN3_uc003wip.2_Missense_Mutation_p.R494C|ACCN3_uc003wiq.2_RNA	NM_004769	NP_004760	Q9UHC3	ACCN3_HUMAN	amiloride-sensitive cation channel 3 isoform a	513	Cytoplasmic (Potential).				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCCTGTGCCGTCACCAAGA	0.632													T	150749682	C	T	150749682	2	4	94	1	0	0	0	0	0	0	0	1	130	652	23	1		1	ACCN3	7	150749682	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	11720	150749682	8388981	1564	60697											
SLC4A2	6522	broad.mit.edu	37	chr7	150761736	150761736	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggcgcccgggagcctcccCgactggagaaaccccgacca	12	17	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150761736C>A	uc003wit.3	+	4	597	c.341C>A	c.(340-342)CCG>CAG	p.P114Q	SLC4A2_uc011kve.1_Missense_Mutation_p.P105Q|SLC4A2_uc003wiu.3_Missense_Mutation_p.P100Q	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	114	Cytoplasmic (Potential).|Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAGCCTCCCCGACTGGAGAA	0.687													A	150761736	C	A	150761736	3	1	94	1	0	0	0	0	1	0	0	0	14654	652	23	5	351	5	SLC4A2	7	150761736	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	12054	150761736	8376927	1565	60698											
FASTK	10922	broad.mit.edu	37	chr7	150775020	150775020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtgcagggctctgaaggGcaggcaccgcagttggcaca	15	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150775020G>A	uc003wix.1	-	5	1083	c.985C>T	c.(985-987)CCC>TCC	p.P329S	uc011kvf.1_5'Flank|FASTK_uc003wiw.1_Missense_Mutation_p.P90S|FASTK_uc003wiy.1_Missense_Mutation_p.P188S|FASTK_uc003wiz.1_Missense_Mutation_p.P302S|FASTK_uc003wja.1_3'UTR	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase isoform 1	329					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(2)|stomach(2)	4			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GCTCTGAAGGGCAGGCACCGC	0.592													A	150775020	G	A	150775020	3	1	94	1	0	0	0	0	1	0	0	0	5684	1203	42	2	688	2	FASTK	7	150775020	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	13284	150775020	8363643	1566	60699											
FASTK	10922	broad.mit.edu	37	chr7	150775740	150775740	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accggtgccgggccaggtgcTgggccaggagcaccatcacg	16	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150775740T>C	uc003wix.1	-	4	832	c.734A>G	c.(733-735)CAG>CGG	p.Q245R	uc011kvf.1_5'Flank|FASTK_uc003wiw.1_Missense_Mutation_p.Q6R|FASTK_uc003wiy.1_Missense_Mutation_p.Q104R|FASTK_uc003wiz.1_Missense_Mutation_p.Q218R|FASTK_uc003wja.1_Intron	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase isoform 1	245					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(2)|stomach(2)	4			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GGCCAGGTGCTGGGCCAGGAG	0.652													C	150775740	T	C	150775740	3	2	94	1	0	0	0	0	1	0	0	0	5684	1580	55	3	943	3	FASTK	7	150775740	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	720	150775740	8362923	1567	60700											
FASTK	10922	broad.mit.edu	37	chr7	150776883	150776883	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcctccaacaggccggTccccccatttgctgggcccc	10	20	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150776883T>C	uc003wix.1	-	2	307	c.209A>G	c.(208-210)GAC>GGC	p.D70G	FASTK_uc003wiw.1_Intron|FASTK_uc003wiy.1_Intron|FASTK_uc003wiz.1_Missense_Mutation_p.D70G|FASTK_uc003wja.1_Missense_Mutation_p.D36G	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase isoform 1	70					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(2)|stomach(2)	4			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		AACAGGCCGGTCCCCCCATTT	0.667													C	150776883	T	C	150776883	3	2	94	1	0	0	0	0	1	0	0	0	5684	1667	58	3	1476	3	FASTK	7	150776883	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1143	150776883	8361780	1568	60701											
AGAP3	116988	broad.mit.edu	37	chr7	150839592	150839592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcacctgtcccgggtgcGctcccttgacctcgatgact	11	16	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150839592G>A	uc003wjg.1	+	16	2147	c.2144G>A	c.(2143-2145)CGC>CAC	p.R715H	AGAP3_uc003wje.1_Missense_Mutation_p.R384H|AGAP3_uc003wjj.1_Missense_Mutation_p.R214H|AGAP3_uc003wjk.1_Missense_Mutation_p.R133H	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	679	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3						TCCCGGGTGCGCTCCCTTGAC	0.652													A	150839592	G	A	150839592	3	1	94	1	0	0	0	0	1	0	0	0	369	1087	38	1	2273	1	AGAP3	7	150839592	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	62709	150839592	8299071	1569	60702											
ASB10	136371	broad.mit.edu	37	chr7	150873338	150873338	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaaatgctgcagcgacctgGgctgcctcaccaaggcgaag	12	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150873338G>T	uc003wjm.1	-	5	1526	c.1400C>A	c.(1399-1401)CCC>CAC	p.P467H	ASB10_uc003wjl.1_Missense_Mutation_p.P429H|ASB10_uc003wjn.1_Missense_Mutation_p.P407H	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box-containing 10	422	SOCS box.				intracellular signal transduction						0			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGCGACCTGGGCTGCCTCAC	0.672													T	150873338	G	T	150873338	3	4	94	1	0	0	0	0	1	0	0	0	1014	1232	43	5	142	5	ASB10	7	150873338	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	33746	150873338	8265325	1570	60703											
ABCF2	10061	broad.mit.edu	37	chr7	150913110	150913110	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggatcatgccatctgtgggTagtagctaggaagaaaaaag	13	6	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150913110T>C	uc003wjp.2	-	12	1455	c.1344A>G	c.(1342-1344)CTA>CTG	p.L448L	ABCF2_uc003wjo.1_Silent_p.L448L	NM_007189	NP_009120	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F, member 2	448	ABC transporter 2.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCTGTGGGTAGTAGCTAGG	0.468													C	150913110	T	C	150913110	2	2	94	1	0	0	0	0	0	0	0	1	66	1625	57	3		3	ABCF2	7	150913110	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	39772	150913110	8225553	1571	60704											
SMARCD3	6604	broad.mit.edu	37	chr7	150937242	150937242	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggttggccgtggataGgaggaagctgctcatctgcc	15	10	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150937242G>A	uc003wjs.2	-	10	1230	c.1129C>T	c.(1129-1131)CTA>TTA	p.L377L	SMARCD3_uc003wjt.2_Silent_p.L364L|SMARCD3_uc003wju.2_Silent_p.L364L	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin	377					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCGTGGATAGGAGGAAGCTG	0.572													A	150937242	G	A	150937242	2	1	94	1	0	0	0	0	0	0	0	1	14779	991	35	4		4	SMARCD3	7	150937242	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	24132	150937242	8201421	1572	60705											
WDR86	349136	broad.mit.edu	37	chr7	151093046	151093046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggtggcagcagccgctgGccacctgccacaccttggct	12	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:151093046G>A	uc003wkb.2	-	3	991	c.542C>T	c.(541-543)GCC>GTC	p.A181V	WDR86_uc003wka.2_Missense_Mutation_p.A139V|WDR86_uc011kvk.1_Missense_Mutation_p.A181V|WDR86_uc003wkc.2_Missense_Mutation_p.A53V	NM_198285	NP_938026	Q86TI4	WDR86_HUMAN	WD repeat domain 86	181	WD 4.										0			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGCCGCTGGCCACCTGCCA	0.716													A	151093046	G	A	151093046	3	1	94	1	0	0	0	0	1	0	0	0	17331	1203	42	2	604	2	WDR86	7	151093046	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	155804	151093046	8045617	1573	60706											
DPP6	1804	broad.mit.edu	37	chr7	154561143	154561143	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagaggagattttgaagacAcacatcgcacactggtggtc	11	8	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:154561143A>G	uc003wlk.2	+	9	1029	c.900A>G	c.(898-900)ACA>ACG	p.T300T	DPP6_uc003wli.2_Silent_p.T236T|DPP6_uc003wlm.2_Silent_p.T238T|DPP6_uc011kvq.1_Silent_p.T193T	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	300	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTTTGAAGACACACATCGCAC	0.517													G	154561143	A	G	154561143	2	3	94	1	0	0	0	0	0	0	0	1	4730	146	6	3		3	DPP6	7	154561143	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	3468097	154561143	4577520	1574	60707											
DPP6	1804	broad.mit.edu	37	chr7	154595578	154595578	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgtgtgtttcagcccaAcagcagcaacgacaacatcc	8	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:154595578A>G	uc003wlk.2	+	14	1541	c.1412A>G	c.(1411-1413)AAC>AGC	p.N471S	DPP6_uc003wli.2_Missense_Mutation_p.N407S|DPP6_uc003wlm.2_Missense_Mutation_p.N409S|DPP6_uc011kvq.1_Missense_Mutation_p.N364S	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	471	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTTCAGCCCAACAGCAGCAAC	0.557													G	154595578	A	G	154595578	3	3	94	1	0	0	0	0	1	0	0	0	4730	43	2	3	1582	3	DPP6	7	154595578	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	34435	154595578	4543085	1575	60708											
PAXIP1	22976	broad.mit.edu	37	chr7	154738222	154738222	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtaagcggggaaacgtacCtatgcctctggcaaaatatt	11	8	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:154738222C>A	uc003wlp.2	-	19	3176	c.3133G>T	c.(3133-3135)GAT>TAT	p.D1045Y	LOC100132707_uc011kvr.1_Intron|LOC100132707_uc003wlo.2_Intron|PAXIP1_uc003wlq.1_Missense_Mutation_p.D1011Y|PAXIP1_uc011kvs.1_Missense_Mutation_p.D1009Y	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	PAX interacting protein 1	1045	Interaction with TP53BP1.|BRCT 6.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GGAAACGTACCTATGCCTCTG	0.408													A	154738222	C	A	154738222	3	1	94	1	0	0	0	0	1	0	0	0	11487	695	24	5	88	5	PAXIP1	7	154738222	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	142644	154738222	4400441	1576	60709											
HTR5A	3361	broad.mit.edu	37	chr7	154876139	154876139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttaaccccctgatctataCggctttcaacaagaactaca	4	13	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:154876139C>T	uc003wlu.1	+	2	1080	c.1016C>T	c.(1015-1017)ACG>ATG	p.T339M		NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	339	Helical; Name=7; (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTGATCTATACGGCTTTCAAC	0.473													T	154876139	C	T	154876139	3	4	94	1	0	0	0	0	1	0	0	0	7450	536	19	1	1022	1	HTR5A	7	154876139	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	137917	154876139	4262524	1577	60710											
INSIG1	3638	broad.mit.edu	37	chr7	155093391	155093391	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttttgttggcattaaccaCgccagtgctgtatccttaat	8	9	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:155093391C>T	uc003wly.2	+	3	739	c.528C>T	c.(526-528)CAC>CAT	p.H176H	INSIG1_uc011kvu.1_Intron|INSIG1_uc003wlz.2_Intron	NM_005542	NP_005533	O15503	INSI1_HUMAN	insulin induced gene 1 isoform 1	176	Helical; (Potential).				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCATTAACCACGCCAGTGCTG	0.423													T	155093391	C	T	155093391	2	4	94	1	0	0	0	0	0	0	0	1	7765	535	19	1		1	INSIG1	7	155093391	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	217252	155093391	4045272	1578	60711											
RNF32	140545	broad.mit.edu	37	chr7	156451251	156451251	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccaagttaagaaaaaaatTctttgaaaaaaaggtaggta	8	3	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:156451251T>C	uc003wmo.2	+	7	853	c.671T>C	c.(670-672)TTC>TCC	p.F224S	RNF32_uc010lql.1_RNA|RNF32_uc010lqm.2_Missense_Mutation_p.F224S|RNF32_uc003wmq.2_Missense_Mutation_p.F224S|RNF32_uc003wmr.2_Missense_Mutation_p.F224S|RNF32_uc003wms.2_Missense_Mutation_p.F224S|RNF32_uc003wmu.2_RNA|RNF32_uc003wmt.2_Missense_Mutation_p.F224S	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	ring finger protein 32	224						aggresome|endosome	protein binding|zinc ion binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGAAAAAAATTCTTTGAAAAA	0.423													C	156451251	T	C	156451251	3	2	94	1	0	0	0	0	1	0	0	0	13488	1783	62	3	693	3	RNF32	7	156451251	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1357860	156451251	2687412	1579	60712											
FBXO25	26260	broad.mit.edu	37	chr8	381399	381399	+	Frame_Shift_Del	DEL	A	A	-													aagagcatgaatatgcatcgAaaaaaaggaaaaaggaccat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:381398_381398GA>G	uc003wox.3	+	2	458	c.192_192GA>G	c.(190-192)tcgfs	p.S64fs	FBXO25_uc003woy.3_Frame_Shift_Del_p.S64fs|FBXO25_uc003woz.3_Frame_Shift_Del_p.R14fs	NM_183421	NP_904357	Q8TCJ0	FBX25_HUMAN	Homo sapiens F-box protein 25 (FBXO25), transcript variant 1, mRNA.	64	Interaction with beta-actin.					SCF ubiquitin ligase complex|nucleus	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		AATATGCATCGAAAAAAAGGA	0.259													-	381399	A	-	381399	7	5	94	1	0	1	0	1	0	0	0	0	5736	247	9	0	199	0	FBXO25	8	381399	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08		381399	145982623	1580	60713											
ARHGEF10	9639	broad.mit.edu	37	chr8	1842674	1842674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactcgctatttcagatcgCgctggccagccgcgtttccg	10	16	1	1	rs144726787		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:1842674C>T	uc003wpr.2	+	13	1554	c.1376C>T	c.(1375-1377)GCG>GTG	p.A459V	ARHGEF10_uc003wpq.1_Missense_Mutation_p.A484V|ARHGEF10_uc003wps.2_Missense_Mutation_p.A421V|ARHGEF10_uc003wpt.2_Missense_Mutation_p.A335V|ARHGEF10_uc003wpv.2_Missense_Mutation_p.A192V|ARHGEF10_uc010lre.2_Missense_Mutation_p.A139V	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	484	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TTTCAGATCGCGCTGGCCAGC	0.547													T	1842674	C	T	1842674	3	4	94	1	0	0	0	0	1	0	0	0	894	768	27	1	1422	1	ARHGEF10	8	1842674	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1461275	1842674	144521348	1581	60714											
ARHGEF10	9639	broad.mit.edu	37	chr8	1851490	1851490	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggccaccccgacaggctgcCtcttcagatggccctgacag	11	16	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:1851490C>A	uc003wpr.2	+	16	1872	c.1694C>A	c.(1693-1695)CCT>CAT	p.P565H	ARHGEF10_uc003wpq.1_Missense_Mutation_p.P589H|ARHGEF10_uc003wps.2_Missense_Mutation_p.P527H|ARHGEF10_uc003wpt.2_Missense_Mutation_p.P441H|ARHGEF10_uc003wpv.2_Missense_Mutation_p.P298H|ARHGEF10_uc010lre.2_Missense_Mutation_p.P245H	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	590	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GACAGGCTGCCTCTTCAGATG	0.507													A	1851490	C	A	1851490	3	1	94	1	0	0	0	0	1	0	0	0	894	681	24	5	1752	5	ARHGEF10	8	1851490	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	8816	1851490	144512532	1582	60715											
ARHGEF10	9639	broad.mit.edu	37	chr8	1871167	1871167	+	Frame_Shift_Del	DEL	T	T	-													ccaggacaactgtatcaagaTttacaaaacttgttgcatga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:1871167delT	uc003wpr.2	+	19	2359	c.2181delT	c.(2179-2181)GATfs	p.D727fs	ARHGEF10_uc003wpq.1_Frame_Shift_Del_p.D751fs|ARHGEF10_uc003wps.2_Frame_Shift_Del_p.D689fs|ARHGEF10_uc003wpv.2_Frame_Shift_Del_p.D460fs|ARHGEF10_uc010lre.2_Frame_Shift_Del_p.D407fs	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	752					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGTATCAAGATTTACAAAACT	0.328													-	1871167	T	-	1871167	7	5	94	1	0	1	0	1	0	0	0	0	894	1490	52	0	2251	0	ARHGEF10	8	1871167	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	19677	1871167	144492855	1583	60716											
MYOM2	9172	broad.mit.edu	37	chr8	2026951	2026951	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacagtgcgggcatcagcCgaccctccagggtctctgat	12	13	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:2026951C>T	uc003wpx.3	+	12	1537	c.1399C>T	c.(1399-1401)CGA>TGA	p.R467*	MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	467	Fibronectin type-III 1.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGGCATCAGCCGACCCTCCAG	0.547													T	2026951	C	T	2026951	4	4	94	1	0	0	0	0	0	1	0	0	10092	644	23	1	1441	1	MYOM2	8	2026951	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	155784	2026951	144337071	1584	60717											
ANGPT2	285	broad.mit.edu	37	chr8	6372234	6372234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtcctctgaaaatcaacGctgccatcctcacgtcgctg	7	15	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:6372234G>A	uc003wqj.3	-	6	1325	c.996C>T	c.(994-996)AGC>AGT	p.S332S	MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Silent_p.S331S|ANGPT2_uc010lri.2_Silent_p.S280S|ANGPT2_uc003wql.3_Silent_p.S331S	NM_001147	NP_001138	O15123	ANGP2_HUMAN	angiopoietin 2 isoform a precursor	332	Fibrinogen C-terminal.				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			upper_aerodigestive_tract(1)	1		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GAAAATCAACGCTGCCATCCT	0.443													A	6372234	G	A	6372234	2	1	94	1	0	0	0	0	0	0	0	1	611	1078	38	1		1	ANGPT2	8	6372234	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4345283	6372234	139991788	1585	60718											
ANGPT2	285	broad.mit.edu	37	chr8	6378851	6378851	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttggatactaacacctgtAgctgatctttctcttctttt	6	10	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:6378851A>G	uc003wqj.3	-	4	976	c.647T>C	c.(646-648)CTA>CCA	p.L216P	MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Missense_Mutation_p.L216P|ANGPT2_uc010lri.2_Missense_Mutation_p.L164P|ANGPT2_uc003wql.3_Missense_Mutation_p.L216P	NM_001147	NP_001138	O15123	ANGP2_HUMAN	angiopoietin 2 isoform a precursor	216	Potential.				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			upper_aerodigestive_tract(1)	1		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TAACACCTGTAGCTGATCTTT	0.363													G	6378851	A	G	6378851	3	3	94	1	0	0	0	0	1	0	0	0	611	420	15	3	867	3	ANGPT2	8	6378851	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	6617	6378851	139985171	1586	60719											
MFHAS1	9258	broad.mit.edu	37	chr8	8750406	8750406	+	Frame_Shift_Del	DEL	G	G	-													gttggccggcagcacgagctGgggggaggcgggggactcga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:8750406delG	uc003wsj.1	-	1	726	c.163delC	c.(163-165)CAGfs	p.Q55fs		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	55											0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		AGCACGAGCTGGGGGGAGGCG	0.582													-	8750406	G	-	8750406	7	5	94	1	0	1	0	1	0	0	0	0	9521	1357	47	0	3007	0	MFHAS1	8	8750406	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	2371555	8750406	137613616	1587	60720											
PRSS55	203074	broad.mit.edu	37	chr8	10383157	10383157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaactcagctcggtccacGgactcctctcccagaggctg	12	15	2	1	rs148969594	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:10383157G>A	uc003wta.2	+	1	77	c.62G>A	c.(61-63)CGG>CAG	p.R21Q	uc010lru.2_Intron	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	hypothetical protein LOC203074 precursor	21	Extracellular (Potential).				proteolysis	integral to membrane	serine-type endopeptidase activity			ovary(1)	1						CTCGGTCCACGGACTCCTCTC	0.667													A	10383157	G	A	10383157	3	1	94	1	0	0	0	0	1	0	0	0	12634	1116	39	1	64	1	PRSS55	8	10383157	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1632751	10383157	135980865	1588	60721											
AMAC1L2	83650	broad.mit.edu	37	chr8	11189439	11189439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgtgggctatgcggtcaCcaaggcccaccctgccctgg	13	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:11189439C>T	uc003wtp.1	+	1	945	c.824C>T	c.(823-825)ACC>ATC	p.T275I		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	acyl-malonyl condensing enzyme	275	DUF6 2.					integral to membrane					0			STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)		TATGCGGTCACCAAGGCCCAC	0.582													T	11189439	C	T	11189439	3	4	94	1	0	0	0	0	1	0	0	0	560	507	18	4	826	4	AMAC1L2	8	11189439	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	806282	11189439	135174583	1589	60722											
MSR1	4481	broad.mit.edu	37	chr8	15978090	15978090	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtgagggccgctcccaccGaccagtcgaactttcgtaaa	10	14	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:15978090G>A	uc003wwz.2	-	9	1257	c.1059C>T	c.(1057-1059)GTC>GTT	p.V353V	MSR1_uc010lsu.2_Silent_p.V371V|MSR1_uc003wxa.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	353	SRCR.|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)		CGCTCCCACCGACCAGTCGAA	0.473													A	15978090	G	A	15978090	2	1	94	1	0	0	0	0	0	0	0	1	9886	1045	37	1		1	MSR1	8	15978090	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4788651	15978090	130385932	1590	60723											
EPB49	2039	broad.mit.edu	37	chr8	21927823	21927823	+	Frame_Shift_Del	DEL	C	C	-													gaaaccgactactggccatgCcccccgtctctggctgttgt					rs141465910		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:21927823delC	uc011kyt.1	+	8	811	c.582delC	c.(580-582)TGCfs	p.C194fs	EPB49_uc010ltl.2_Frame_Shift_Del_p.C194fs|EPB49_uc011kys.1_Frame_Shift_Del_p.C154fs|EPB49_uc010ltn.2_Frame_Shift_Del_p.C169fs|EPB49_uc011kyu.1_Frame_Shift_Del_p.C194fs|EPB49_uc011kyv.1_Frame_Shift_Del_p.C194fs|EPB49_uc010ltq.2_Frame_Shift_Del_p.C194fs	NM_001114136	NP_001107608	Q08495	DEMA_HUMAN	erythrocyte membrane protein band 4.9 isoform 1	194					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)	1				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		ACTGGCCATGCCCCCCGTCTC	0.592													-	21927823	C	-	21927823	7	5	94	1	0	1	0	1	0	0	0	0	5159	747	26	0	608	0	EPB49	8	21927823	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	5949733	21927823	124436199	1591	60724											
NUDT18	79873	broad.mit.edu	37	chr8	21965652	21965652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggccatacctgtggggCgagcgaggaacacgaagcgg	19	9	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:21965652C>T	uc003xaq.1	-	5	487	c.368G>A	c.(367-369)CGC>CAC	p.R123H	NUDT18_uc003xar.1_3'UTR	NM_024815	NP_079091	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety	123	Nudix hydrolase.						hydrolase activity|metal ion binding|protein binding				0				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		ACCTGTGGGGCGAGCGAGGAA	0.667													T	21965652	C	T	21965652	3	4	94	1	0	0	0	0	1	0	0	0	10735	768	27	1	611	1	NUDT18	8	21965652	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	37829	21965652	124398370	1592	60725											
HR	55806	broad.mit.edu	37	chr8	21984903	21984903	+	Frame_Shift_Del	DEL	C	C	-													gttcgctggctccactggcaCccccctccaggccctcctgg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:21984902_21984902AC>A	uc003xas.3	-	2	1718	c.1053_1053GT>T	c.(1051-1053)ggtfs	p.G351fs	HR_uc003xat.3_Frame_Shift_Del_p.G351fs	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	351							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTCCACTGGCACCCCCCTCCA	0.652													-	21984903	C	-	21984903	7	5	94	1	0	1	0	1	0	0	0	0	7347	507	18	0	2585	0	HR	8	21984903	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	19251	21984903	124379119	1593	60726											
BMP1	649	broad.mit.edu	37	chr8	22054260	22054261	+	Frame_Shift_Ins	INS	-	-	CC													cgggctggcccaaggagtacINSccccccaacaagaactgcat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:22054259_22054260A>ACC	uc003xbg.3	+	13	2098_2099	c.1832_1833A>ACC	c.(1831-1833)tacfs	p.Y611fs	BMP1_uc003xbf.3_Frame_Shift_Ins_p.Y360fs|BMP1_uc003xbb.3_Frame_Shift_Ins_p.Y611fs|BMP1_uc003xbc.3_Frame_Shift_Ins_p.Y360fs|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Frame_Shift_Ins_p.Y360fs|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	611	CUB 3.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCCAAGGAGTACCCCCCCAACA	0.604													CC	22054261	-	CC	22054260	7	5	94	1	0	1	1	0	0	0	0	0	1456	518	18	0	1887	0	BMP1	8	22054260	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	69357	22054260	124309762	1594	60727											
POLR3D	661	broad.mit.edu	37	chr8	22105771	22105771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaactaaacagatcttgCgtatgctggagaaggacgat	11	6	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:22105771C>T	uc003xbl.2	+	5	549	c.466C>T	c.(466-468)CGT>TGT	p.R156C	POLR3D_uc003xbm.2_Missense_Mutation_p.R156C|POLR3D_uc011kze.1_Intron	NM_001722	NP_001713	P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	156					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity				0				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		ACAGATCTTGCGTATGCTGGA	0.502													T	22105771	C	T	22105771	3	4	94	1	0	0	0	0	1	0	0	0	12231	768	27	1	480	1	POLR3D	8	22105771	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	51511	22105771	124258251	1595	60728											
SLC39A14	23516	broad.mit.edu	37	chr8	22262311	22262311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccacccctgaggctcacGcttcatccctgggtgcacca	9	17	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:22262311G>A	uc003xbq.3	+	2	263	c.88G>A	c.(88-90)GCT>ACT	p.A30T	SLC39A14_uc011kzg.1_Missense_Mutation_p.A30T|SLC39A14_uc003xbp.3_Missense_Mutation_p.A30T|SLC39A14_uc011kzh.1_Missense_Mutation_p.A30T	NM_001128431	NP_001121903	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter),	30						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity				0				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		TGAGGCTCACGCTTCATCCCT	0.582													A	22262311	G	A	22262311	3	1	94	1	0	0	0	0	1	0	0	0	14617	1087	38	1	90	1	SLC39A14	8	22262311	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	156540	22262311	124101711	1596	60729											
PDLIM2	64236	broad.mit.edu	37	chr8	22442669	22442669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggagaggcagccatcaGccgcaggtgagtgtgcctgt	15	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:22442669G>A	uc003xby.2	+	5	855	c.455G>A	c.(454-456)AGC>AAC	p.S152N	PDLIM2_uc003xbx.1_Missense_Mutation_p.S152N|PDLIM2_uc003xbz.2_Missense_Mutation_p.S152N|PDLIM2_uc003xca.2_Missense_Mutation_p.S152N|PDLIM2_uc003xcb.2_Missense_Mutation_p.S152N|PDLIM2_uc003xcc.1_Missense_Mutation_p.S152N	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 isoform 2	152	Ser-rich.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		GCAGCCATCAGCCGCAGGTGA	0.672													A	22442669	G	A	22442669	3	1	94	1	0	0	0	0	1	0	0	0	11680	971	34	2	469	2	PDLIM2	8	22442669	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	180358	22442669	123921353	1597	60730											
KIAA1967	57805	broad.mit.edu	37	chr8	22463638	22463638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccctcctcctggtttGctcactcctcctgtggccac	9	18	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:22463638G>A	uc003xch.2	+	3	236	c.99G>A	c.(97-99)TTG>TTA	p.L33L	KIAA1967_uc003xci.2_Silent_p.L33L|KIAA1967_uc003xcj.1_5'Flank	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	33					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CTCCTGGTTTGCTCACTCCTC	0.547													A	22463638	G	A	22463638	2	1	94	1	0	0	0	0	0	0	0	1	8265	1310	46	2		2	KIAA1967	8	22463638	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	20969	22463638	123900384	1598	60731											
BIN3	55909	broad.mit.edu	37	chr8	22487477	22487477	+	Frame_Shift_Del	DEL	T	T	-													cccaggtgacatttactcacTtttttaagggctcgatcaca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:22487477delT	uc003xcl.2	-	6	435	c.338delA	c.(337-339)AAGfs	p.K113fs	BIN3_uc003xck.2_Frame_Shift_Del_p.K65fs|BIN3_uc010ltw.2_Frame_Shift_Del_p.K59fs	NM_018688	NP_061158	Q9NQY0	BIN3_HUMAN	bridging integrator 3	113	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity				0		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		ATTTACTCACTTTTTTAAGGG	0.532													-	22487477	T	-	22487477	7	5	94	1	0	1	0	1	0	0	0	0	1434	1623	56	0	439	0	BIN3	8	22487477	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	23839	22487477	123876545	1599	60732											
LOXL2	4017	broad.mit.edu	37	chr8	23167365	23167365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcatgaacatgggccGgtcctccaggtaggtggtct	14	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:23167365G>A	uc003xdh.1	-	10	2035	c.1696C>T	c.(1696-1698)CGG>TGG	p.R566W	LOXL2_uc010lty.1_Missense_Mutation_p.R105W	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	566	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AACATGGGCCGGTCCTCCAGG	0.657													A	23167365	G	A	23167365	3	1	94	1	0	0	0	0	1	0	0	0	8900	1115	39	1	648	1	LOXL2	8	23167365	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	679888	23167365	123196657	1600	60733											
ADAM28	10863	broad.mit.edu	37	chr8	24167473	24167474	+	Frame_Shift_Ins	INS	-	-	A													aattgcagtgctttatttgaINSaaaaaaacaagtaagtatct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:24167472_24167473G>GA	uc003xdy.3	+	2	299_300	c.216_217G>GA	c.(214-219)ttgaaafs	p.L72fs	ADAM28_uc003xdx.3_Frame_Shift_Ins_p.L72fs|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	72					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGCTTTATTTGAAAAAAAACAA	0.332													A	24167474	-	A	24167473	7	5	94	1	0	1	1	0	0	0	0	0	246	247	9	0	227	0	ADAM28	8	24167473	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1000108	24167473	122196549	1601	60734											
NEFM	4741	broad.mit.edu	37	chr8	24771467	24771467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtcctcctcctataagcGcagcatgctcgccccgcgcc	9	19	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:24771467G>A	uc003xed.3	+	1	194	c.161G>A	c.(160-162)CGC>CAC	p.R54H	NEFM_uc011lac.1_Missense_Mutation_p.R54H|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	54	Head.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TCCTATAAGCGCAGCATGCTC	0.692													A	24771467	G	A	24771467	3	1	94	1	0	0	0	0	1	0	0	0	10316	1087	38	1	163	1	NEFM	8	24771467	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	603994	24771467	121592555	1602	60735											
NEFM	4741	broad.mit.edu	37	chr8	24771944	24771944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcaaagacatcgaggaggCgtcgctggtcaaggtggagc	17	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:24771944C>T	uc003xed.3	+	1	671	c.638C>T	c.(637-639)GCG>GTG	p.A213V	NEFM_uc011lac.1_Missense_Mutation_p.A213V|NEFM_uc010lue.2_5'Flank|uc010luc.1_Missense_Mutation_p.A42T	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	213	Rod.|Coil 1B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATCGAGGAGGCGTCGCTGGTC	0.647													T	24771944	C	T	24771944	3	4	94	1	0	0	0	0	1	0	0	0	10316	768	27	1	640	1	NEFM	8	24771944	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	477	24771944	121592078	1603	60736											
DOCK5	80005	broad.mit.edu	37	chr8	25174531	25174531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcatgttgcaggagatgttCggaatgacatttatgtcacc	10	7	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:25174531C>T	uc003xeg.2	+	14	1464	c.1327C>T	c.(1327-1329)CGG>TGG	p.R443W	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.R157W|DOCK5_uc003xei.2_Missense_Mutation_p.R13W	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	443	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGGAGATGTTCGGAATGACAT	0.438													T	25174531	C	T	25174531	3	4	94	1	0	0	0	0	1	0	0	0	4690	875	31	1	1381	1	DOCK5	8	25174531	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	402587	25174531	121189491	1604	60737											
PTK2B	2185	broad.mit.edu	37	chr8	27308338	27308338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgaaaaggtcaaaatgCggcaaatcctggacaaacag	11	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:27308338C>T	uc003xfn.1	+	30	3221	c.2413C>T	c.(2413-2415)CGG>TGG	p.R805W	PTK2B_uc003xfo.1_Missense_Mutation_p.R805W|PTK2B_uc003xfp.1_Missense_Mutation_p.R805W|PTK2B_uc003xfq.1_Missense_Mutation_p.R763W|PTK2B_uc003xfs.1_Missense_Mutation_p.R2W	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	805	Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GGTCAAAATGCGGCAAATCCT	0.587													T	27308338	C	T	27308338	3	4	94	1	0	0	0	0	1	0	0	0	12763	759	27	1	2507	1	PTK2B	8	27308338	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2133807	27308338	119055684	1605	60738											
CHRNA2	1135	broad.mit.edu	37	chr8	27320602	27320602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaccctcctgcagcagaGcctcagccttgggacctgag	11	16	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:27320602G>A	uc010lur.2	-	6	1967	c.1358C>T	c.(1357-1359)GCT>GTT	p.A453V	CHRNA2_uc011lal.1_Missense_Mutation_p.A438V|CHRNA2_uc010lus.2_Missense_Mutation_p.A255V	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	453	Cytoplasmic.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	CTGCAGCAGAGCCTCAGCCTT	0.632													A	27320602	G	A	27320602	3	1	94	1	0	0	0	0	1	0	0	0	3383	971	34	2	239	2	CHRNA2	8	27320602	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	12264	27320602	119043420	1606	60739											
SCARA5	286133	broad.mit.edu	37	chr8	27779530	27779530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcggtctgcaccgcctgCgcctgcagcccccacagcgc	11	20	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:27779530C>T	uc003xgj.2	-	4	914	c.474G>A	c.(472-474)GCG>GCA	p.A158A	SCARA5_uc010luz.2_Intron|SCARA5_uc003xgk.2_Silent_p.A115A|SCARA5_uc003xgl.2_Silent_p.A158A	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	158	Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCACCGCCTGCGCCTGCAGCC	0.716													T	27779530	C	T	27779530	2	4	94	1	0	0	0	0	0	0	0	1	13880	755	27	1		1	SCARA5	8	27779530	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	458928	27779530	118584492	1607	60740											
C8orf80	389643	broad.mit.edu	37	chr8	27922170	27922170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgatcaagggccagatgcGcatctcagcggcctctccat	10	13	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:27922170G>A	uc003xgm.3	-	7	933	c.790C>T	c.(790-792)CGC>TGC	p.R264C		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	speckled-like pattern in the germinal center	264						nucleus	GTP binding|GTPase activity			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		GGCCAGATGCGCATCTCAGCG	0.562													A	27922170	G	A	27922170	3	1	94	1	0	0	0	0	1	0	0	0	2439	1087	38	1	1652	1	C8orf80	8	27922170	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	142640	27922170	118441852	1608	60741											
INTS9	55756	broad.mit.edu	37	chr8	28625729	28625729	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcatctcgtcattgtcGcagatgatatgggtcgagtc	12	9	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:28625729G>A	uc003xha.2	-	17	2210	c.1911C>T	c.(1909-1911)TGC>TGT	p.C637C	INTS9_uc011lav.1_Silent_p.C613C|INTS9_uc011law.1_Silent_p.C616C|INTS9_uc011lax.1_Silent_p.C530C|INTS9_uc010lvc.2_RNA	NM_018250	NP_060720	Q9NV88	INT9_HUMAN	integrator complex subunit 9 isoform 1	637					snRNA processing	integrator complex	protein binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CGTCATTGTCGCAGATGATAT	0.517													A	28625729	G	A	28625729	2	1	94	1	0	0	0	0	0	0	0	1	7785	1079	38	1		1	INTS9	8	28625729	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	703559	28625729	117738293	1609	60742											
DUSP26	78986	broad.mit.edu	37	chr8	33451249	33451249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcggcgaagctcccggcGgttgttagccatgtccctgc	14	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:33451249G>A	uc003xjp.2	-	3	571	c.238C>T	c.(238-240)CGC>TGC	p.R80C	DUSP26_uc003xjq.2_Missense_Mutation_p.R80C	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26	80	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		AGCTCCCGGCGGTTGTTAGCC	0.607													A	33451249	G	A	33451249	3	1	94	1	0	0	0	0	1	0	0	0	4823	1116	39	1	405	1	DUSP26	8	33451249	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4825520	33451249	112912773	1610	60743											
HTRA4	203100	broad.mit.edu	37	chr8	38834212	38834212	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatgaagctgttgtcaaggAtattgaccttaaattggatc	9	5	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:38834212A>G	uc003xmj.2	+	3	840	c.725A>G	c.(724-726)GAT>GGT	p.D242G		NM_153692	NP_710159	P83105	HTRA4_HUMAN	HtrA serine peptidase 4 precursor	242	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GTTGTCAAGGATATTGACCTT	0.433													G	38834212	A	G	38834212	3	3	94	1	0	0	0	0	1	0	0	0	7456	333	12	3	735	3	HTRA4	8	38834212	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	5382963	38834212	107529810	1611	60744											
ANK1	286	broad.mit.edu	37	chr8	41529903	41529903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctccgtcacctgactcaCggtgggggaatgtgtgattc	12	12	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:41529903C>T	uc003xok.2	-	38	5149	c.5065G>A	c.(5065-5067)GTG>ATG	p.V1689M	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.V843M|ANK1_uc003xoi.2_Missense_Mutation_p.V1689M|ANK1_uc003xoj.2_Missense_Mutation_p.V1689M|ANK1_uc003xol.2_Missense_Mutation_p.V1527M|ANK1_uc003xom.2_Missense_Mutation_p.V1730M	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1689	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACCTGACTCACGGTGGGGGAA	0.567													T	41529903	C	T	41529903	3	4	94	1	0	0	0	0	1	0	0	0	620	536	19	1	926	1	ANK1	8	41529903	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2695691	41529903	104834119	1612	60745											
MYST3	7994	broad.mit.edu	37	chr8	41790996	41790996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagctgctctgggaagagCtgttcccacagatgctgccg	13	12	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:41790996C>T	uc010lxb.2	-	18	5286	c.4742G>A	c.(4741-4743)AGC>AAC	p.S1581N	MYST3_uc010lxc.2_Missense_Mutation_p.S1581N|MYST3_uc003xon.3_Missense_Mutation_p.S1581N	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1581	Interaction with RUNX1-2.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CTGGGAAGAGCTGTTCCCACA	0.597													T	41790996	C	T	41790996	3	4	94	1	0	0	0	0	1	0	0	0	10104	797	28	2	1276	2	MYST3	8	41790996	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	261093	41790996	104573026	1613	60746											
PLAT	5327	broad.mit.edu	37	chr8	42037527	42037527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggggaaggcacacagtgCggaccacgctgctctcctgg	15	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:42037527C>T	uc003xos.2	-	12	1489	c.1280G>A	c.(1279-1281)CGC>CAC	p.R427H	PLAT_uc010lxf.1_Missense_Mutation_p.R344H|PLAT_uc010lxg.1_Missense_Mutation_p.R252H|PLAT_uc003xot.2_Missense_Mutation_p.R381H|PLAT_uc011lcm.1_Missense_Mutation_p.R338H|PLAT_uc011lcn.1_Missense_Mutation_p.R301H	NM_000930	NP_000921	P00750	TPA_HUMAN	plasminogen activator, tissue isoform 1	427	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|skin(1)	2	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GCACACAGTGCGGACCACGCT	0.652													T	42037527	C	T	42037527	3	4	94	1	0	0	0	0	1	0	0	0	12021	768	27	1	420	1	PLAT	8	42037527	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	246531	42037527	104326495	1614	60747											
DKK4	27121	broad.mit.edu	37	chr8	42232287	42232287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttcttacccttcctgCcttgtgatttcttaatactt	5	11	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:42232287C>T	uc003xpb.2	-	3	518	c.407G>A	c.(406-408)GGC>GAC	p.G136D		NM_014420	NP_055235	Q9UBT3	DKK4_HUMAN	dickkopf homolog 4 precursor	136					multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				ovary(1)	1	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			ACCCTTCCTGCCTTGTGATTT	0.438													T	42232287	C	T	42232287	3	4	94	1	0	0	0	0	1	0	0	0	4547	739	26	2	275	2	DKK4	8	42232287	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	194760	42232287	104131735	1615	60748											
CHRNB3	1142	broad.mit.edu	37	chr8	42586906	42586906	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgccagctacaaaagctcCtgcaccatggacgtcacgtt	8	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:42586906C>A	uc003xpi.1	+	5	584	c.456C>A	c.(454-456)TCC>TCA	p.S152S		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	152	Extracellular (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACAAAAGCTCCTGCACCATGG	0.532													A	42586906	C	A	42586906	2	1	94	1	0	0	0	0	0	0	0	1	3392	668	24	5		5	CHRNB3	8	42586906	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	354619	42586906	103777116	1616	60749											
PRKDC	5591	broad.mit.edu	37	chr8	48749922	48749922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatttagtgccagcaaccGgtccaaggtatttgaaggta	12	7	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:48749922G>A	uc003xqi.2	-	58	7669	c.7612C>T	c.(7612-7614)CGG>TGG	p.R2538W	PRKDC_uc003xqj.2_Missense_Mutation_p.R2538W|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2538	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GCCAGCAACCGGTCCAAGGTA	0.368								NHEJ					A	48749922	G	A	48749922	3	1	94	1	0	0	0	0	1	0	0	0	12521	1115	39	1	4894	1	PRKDC	8	48749922	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	6163016	48749922	97614100	1617	60750											
PRKDC	5591	broad.mit.edu	37	chr8	48852211	48852211	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgctccataaagtactgcAgtttatttttatgcatttct	5	8	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:48852211A>G	uc003xqi.2	-	11	1070	c.1013T>C	c.(1012-1014)CTG>CCG	p.L338P	PRKDC_uc003xqj.2_Missense_Mutation_p.L338P|PRKDC_uc011ldh.1_Missense_Mutation_p.L338P	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	338					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAAGTACTGCAGTTTATTTTT	0.318								NHEJ					G	48852211	A	G	48852211	3	3	94	1	0	0	0	0	1	0	0	0	12521	188	7	3	11676	3	PRKDC	8	48852211	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	102289	48852211	97511811	1618	60751											
PXDNL	137902	broad.mit.edu	37	chr8	52258473	52258473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtttcttttgagactcttgCgtcactgctctgaactgtcc	8	12	4	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:52258473C>T	uc003xqu.3	-	20	4037	c.3936G>A	c.(3934-3936)ACG>ACA	p.T1312T	PXDNL_uc003xqt.3_Intron	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1312					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GAGACTCTTGCGTCACTGCTC	0.408													T	52258473	C	T	52258473	2	4	94	1	0	0	0	0	0	0	0	1	12848	755	27	1		1	PXDNL	8	52258473	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3406262	52258473	94105549	1619	60752											
PXDNL	137902	broad.mit.edu	37	chr8	52321984	52321984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctgctgcaggttgttgcAcgtgccgtcgtgggcgcggt	19	10	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:52321984A>G	uc003xqu.3	-	17	2301	c.2200T>C	c.(2200-2202)TGC>CGC	p.C734R	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	734					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGGTTGTTGCACGTGCCGTCG	0.682													G	52321984	A	G	52321984	3	3	94	1	0	0	0	0	1	0	0	0	12848	159	6	3	2219	3	PXDNL	8	52321984	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	63511	52321984	94042038	1620	60753											
PXDNL	137902	broad.mit.edu	37	chr8	52366263	52366263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgataagagggtgtgggtgGcctgtggccatacattccaa	15	7	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:52366263G>A	uc003xqu.3	-	10	1166	c.1065C>T	c.(1063-1065)GGC>GGT	p.G355G		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	355	Ig-like C2-type 2.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTGTGGGTGGCCTGTGGCCA	0.502													A	52366263	G	A	52366263	2	1	94	1	0	0	0	0	0	0	0	1	12848	1190	42	2		2	PXDNL	8	52366263	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	44279	52366263	93997759	1621	60754											
NPBWR1	2831	broad.mit.edu	37	chr8	53852828	53852828	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctatcgaccagtacaacaccTtctccagcctctacttcctc	3	18	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:53852828T>A	uc011ldu.1	+	1	361	c.361T>A	c.(361-363)TTC>ATC	p.F121I		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	121	Helical; Name=3; (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GTACAACACCTTCTCCAGCCT	0.647													A	53852828	T	A	53852828	3	1	94	1	0	0	0	0	1	0	0	0	10568	1609	56	5	363	5	NPBWR1	8	53852828	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1486565	53852828	92511194	1622	60755											
SOX17	64321	broad.mit.edu	37	chr8	55372287	55372288	+	Frame_Shift_Ins	INS	-	-	C													cagcaccagcaccagcaccaINSccccccgggccccggacagc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:55372287_55372288insC	uc003xsb.3	+	2	1181_1182	c.977_978insC	c.(976-978)CACfs	p.H326fs		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	326	Gln/Pro-rich.|Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			caccagcaccaCCCCCCGGGCC	0.535													C	55372288	-	C	55372287	7	5	94	1	0	1	1	0	0	0	0	0	14947	159	6	0	983	0	SOX17	8	55372287	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1519459	55372287	90991735	1623	60756											
PLAG1	5324	broad.mit.edu	37	chr8	57079998	57079998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcttcagatgatctttccGgtgaaacattttctcacaat	5	9	4	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:57079998G>A	uc003xsq.3	-	3	758	c.307C>T	c.(307-309)CGG>TGG	p.R103W	PLAG1_uc003xsr.3_Missense_Mutation_p.R103W|PLAG1_uc010lyi.2_Missense_Mutation_p.R103W|PLAG1_uc010lyj.2_Missense_Mutation_p.R21W	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	103	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.|C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TGATCTTTCCGGTGAAACATT	0.373			T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma								A	57079998	G	A	57079998	3	1	94	1	0	0	0	0	1	0	0	0	12018	1115	39	1	1199	1	PLAG1	8	57079998	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1707711	57079998	89284024	1624	60757											
SDR16C5	195814	broad.mit.edu	37	chr8	57228768	57228768	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccgagtccacttccagcacCtgtgatgaggactatttcac	8	13	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:57228768C>A	uc003xsy.1	-	2	777	c.139G>T	c.(139-141)GGT>TGT	p.G47C	SDR16C5_uc010lyk.1_Missense_Mutation_p.G47C|SDR16C5_uc010lyl.1_Missense_Mutation_p.G47C	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	epidermal retinal dehydrogenase 2	47	NAD or NADP (By similarity).				detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CTTCCAGCACCTGTGATGAGG	0.473													A	57228768	C	A	57228768	3	1	94	1	0	0	0	0	1	0	0	0	13971	681	24	5	814	5	SDR16C5	8	57228768	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	148770	57228768	89135254	1625	60758											
CLVS1	157807	broad.mit.edu	37	chr8	62371019	62371019	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagcgatgaaaatgactatActcacacatcctataatgca	5	10	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:62371019A>G	uc003xuh.2	+	5	1219	c.895A>G	c.(895-897)ACT>GCT	p.T299A	CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	retinaldehyde binding protein 1-like 1	299					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			skin(4)|ovary(1)	5						AAATGACTATACTCACACATC	0.473													G	62371019	A	G	62371019	3	3	94	1	0	0	0	0	1	0	0	0	3571	391	14	3	909	3	CLVS1	8	62371019	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	5142251	62371019	83993003	1626	60759											
ASPH	444	broad.mit.edu	37	chr8	62430155	62430155	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcccaggtgcattcggagCctgcagtttgtgggccctgt	14	11	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:62430155C>T	uc003xuj.2	-	24	2327	c.2058G>A	c.(2056-2058)AGG>AGA	p.R686R	ASPH_uc011leg.1_Silent_p.R657R	NM_004318	NP_004309	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase isoform a	686	Lumenal (Potential).				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			ovary(3)	3	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GCATTCGGAGCCTGCAGTTTG	0.522													T	62430155	C	T	62430155	2	4	94	1	0	0	0	0	0	0	0	1	1053	738	26	2		2	ASPH	8	62430155	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	59136	62430155	83933867	1627	60760											
RRS1	23212	broad.mit.edu	37	chr8	67341501	67341501	+	Frame_Shift_Del	DEL	C	C	-													ctgctggcgtcggaccggaaCcccccgaccgggctgcggtg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:67341501delC	uc003xwa.2	+	1	239	c.135delC	c.(133-135)AACfs	p.N45fs		NM_015169	NP_055984	Q15050	RRS1_HUMAN	homolog of yeast ribosome biogenesis regulatory	45					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus					0		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CGGACCGGAACCCCCCGACCG	0.672											OREG0018806	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	67341501	C	-	67341501	7	5	94	1	0	1	0	1	0	0	0	0	13692	506	18	0	137	0	RRS1	8	67341501	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	4911346	67341501	79022521	1628	60761											
VCPIP1	80124	broad.mit.edu	37	chr8	67563711	67563711	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acccatggttttcttcataaTactgtagaatacaccaccct	4	12	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:67563711T>A	uc003xwn.2	-	2	3038	c.2779A>T	c.(2779-2781)ATT>TTT	p.I927F		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	927				Missing (in Ref. 3).	protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTCTTCATAATACTGTAGAAT	0.318													A	67563711	T	A	67563711	3	1	94	1	0	0	0	0	1	0	0	0	17138	1406	49	5	897	5	VCPIP1	8	67563711	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	222210	67563711	78800311	1629	60762											
ARFGEF1	10565	broad.mit.edu	37	chr8	68128856	68128856	+	Frame_Shift_Del	DEL	G	G	-													cacttacaggagatggaggtGggggggcagtttctccagaa					rs142098461		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:68128856delG	uc003xxo.1	-	33	5045	c.4655delC	c.(4654-4656)CCAfs	p.P1552fs	ARFGEF1_uc003xxl.1_Frame_Shift_Del_p.P1006fs|ARFGEF1_uc003xxn.1_Frame_Shift_Del_p.P535fs	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGATGGAGGTGGGGGGGCAGT	0.423													-	68128856	G	-	68128856	7	5	94	1	0	1	0	1	0	0	0	0	852	1348	47	0	922	0	ARFGEF1	8	68128856	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	565145	68128856	78235166	1630	60763											
ARFGEF1	10565	broad.mit.edu	37	chr8	68150672	68150672	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttccagaaatgtatcgaggTttcactccagttcctataag	8	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:68150672T>C	uc003xxo.1	-	22	3585	c.3195A>G	c.(3193-3195)AAA>AAG	p.K1065K	ARFGEF1_uc003xxl.1_Silent_p.K519K|ARFGEF1_uc003xxn.1_Silent_p.K48K	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1065					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGTATCGAGGTTTCACTCCAG	0.403													C	68150672	T	C	68150672	2	2	94	1	0	0	0	0	0	0	0	1	852	1722	60	3		3	ARFGEF1	8	68150672	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	21816	68150672	78213350	1631	60764											
SULF1	23213	broad.mit.edu	37	chr8	70515459	70515459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttctcaacattgacttggCccccacgatcctggatattg	8	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:70515459C>T	uc010lza.1	+	11	1811	c.1094C>T	c.(1093-1095)GCC>GTC	p.A365V	SULF1_uc003xyd.2_Missense_Mutation_p.A365V|SULF1_uc003xye.2_Missense_Mutation_p.A365V|SULF1_uc003xyf.2_Missense_Mutation_p.A365V|SULF1_uc003xyg.2_Missense_Mutation_p.A365V|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	365					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATTGACTTGGCCCCCACGATC	0.542													T	70515459	C	T	70515459	3	4	94	1	0	0	0	0	1	0	0	0	15369	739	26	2	1120	2	SULF1	8	70515459	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2364787	70515459	75848563	1632	60765											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744246	70744246	+	Frame_Shift_Del	DEL	G	G	-													ttcaactcttggatctggtaGgggggcgagatgaagtgagg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:70744246delG	uc003xyl.2	-	2	1370	c.663delC	c.(661-663)CCCfs	p.P221fs	SLCO5A1_uc010lzb.2_Frame_Shift_Del_p.P221fs|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Frame_Shift_Del_p.P221fs|SLCO5A1_uc010lzc.2_Frame_Shift_Del_p.P221fs	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	221	Extracellular (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GGATCTGGTAGGGGGGCGAGA	0.677													-	70744246	G	-	70744246	7	5	94	1	0	1	0	1	0	0	0	0	14731	987	35	0	1919	0	SLCO5A1	8	70744246	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	228787	70744246	75619776	1633	60766											
LY96	23643	broad.mit.edu	37	chr8	74903730	74903730	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttccatatttactgaagCtcagaagcagtattgggtct	8	8	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:74903730C>A	uc003yad.2	+	1	144	c.53C>A	c.(52-54)GCT>GAT	p.A18D		NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	MD-2 protein precursor	18					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding				0	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			TTTACTGAAGCTCAGAAGCAG	0.358													A	74903730	C	A	74903730	3	1	94	1	0	0	0	0	1	0	0	0	9102	797	28	5	55	5	LY96	8	74903730	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4159484	74903730	71460292	1634	60767											
JPH1	56704	broad.mit.edu	37	chr8	75227797	75227797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccatgccgtagggcacGctctggcgcacgccgtagcc	15	15	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:75227797G>A	uc003yae.2	-	2	478	c.438C>T	c.(436-438)AGC>AGT	p.S146S	JPH1_uc003yaf.2_Silent_p.S146S|JPH1_uc003yag.1_Silent_p.S10S	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	146	Cytoplasmic (Potential).|MORN 5.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CGTAGGGCACGCTCTGGCGCA	0.687													A	75227797	G	A	75227797	2	1	94	1	0	0	0	0	0	0	0	1	7960	1078	38	1		1	JPH1	8	75227797	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	324067	75227797	71136225	1635	60768											
ZFHX4	79776	broad.mit.edu	37	chr8	77766906	77766906	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctaaaaaggaaactagaCgataaagaagataataattg	7	5	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:77766906C>T	uc003yav.2	+	10	8001	c.7614C>T	c.(7612-7614)GAC>GAT	p.D2538D	ZFHX4_uc003yau.1_Silent_p.D2583D|ZFHX4_uc003yaw.1_Silent_p.D2538D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2538						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGAAACTAGACGATAAAGAAG	0.507										HNSCC(33;0.089)			T	77766906	C	T	77766906	2	4	94	1	0	0	0	0	0	0	0	1	17632	535	19	1		1	ZFHX4	8	77766906	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2539109	77766906	68597116	1636	60769											
ZFHX4	79776	broad.mit.edu	37	chr8	77768043	77768043	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcaagaatgtgaaatgttAgggaatgagattggtctgcc	13	4	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:77768043A>G	uc003yav.2	+	10	9138	c.8751A>G	c.(8749-8751)TTA>TTG	p.L2917L	ZFHX4_uc003yau.1_Silent_p.L2962L|ZFHX4_uc003yaw.1_Silent_p.L2917L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2917	Homeobox 4.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTGAAATGTTAGGGAATGAGA	0.423										HNSCC(33;0.089)			G	77768043	A	G	77768043	2	3	94	1	0	0	0	0	0	0	0	1	17632	417	15	3		3	ZFHX4	8	77768043	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1137	77768043	68595979	1637	60770											
ZFHX4	79776	broad.mit.edu	37	chr8	77768387	77768387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagacgtgctgggcttgaCggtacagcagccaggcatga	14	10	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:77768387C>T	uc003yav.2	+	10	9482	c.9095C>T	c.(9094-9096)ACG>ATG	p.T3032M	ZFHX4_uc003yau.1_Missense_Mutation_p.T3077M|ZFHX4_uc003yaw.1_Missense_Mutation_p.T3032M	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3032						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T3061M(1)		ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTGGGCTTGACGGTACAGCAG	0.577										HNSCC(33;0.089)			T	77768387	C	T	77768387	3	4	94	1	0	0	0	0	1	0	0	0	17632	536	19	1	9264	1	ZFHX4	8	77768387	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	344	77768387	68595635	1638	60771											
SLC10A5	347051	broad.mit.edu	37	chr8	82606649	82606650	+	Frame_Shift_Ins	INS	-	-	A													aacccgcaaaatggcatcagINSaaaaaactgtgtaactgccc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:82606649_82606650insA	uc011lfs.1	-	1	558_559	c.558_559insT	c.(556-561)TTTCTGfs	p.F186fs		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	solute carrier family 10 (sodium/bile acid	186_187	Helical; (Potential).					integral to membrane	bile acid:sodium symporter activity				0						AATGGCATCAGAAAAAACTGTG	0.45													A	82606650	-	A	82606649	7	5	94	1	0	1	1	0	0	0	0	0	14377	933	33	0	759	0	SLC10A5	8	82606649	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	4838262	82606649	63757373	1639	60772	283	2									
SLC10A5	347051	broad.mit.edu	37	chr8	82606650	82606651	+	Frame_Shift_Ins	INS	-	-	A													acccgcaaaatggcatcagaINSaaaaactgtgtaactgcccc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:82606649_82606650G>GA	uc011lfs.2	-	0	558_559	c.558_559C>TC	c.(556-561)tttctgfs	p.F186fs		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 5 (SLC10A5), mRNA.	186						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						AATGGCATCAGAAAAAACTGTG	0.45													A	82606651	-	A	82606650	7	5	94	1	0	1	1	0	0	0	0	0	14377	243	9	0	760	0	SLC10A5	8	82606650	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	82606650	63757372	1640	60773	283	2									
CA13	377677	broad.mit.edu	37	chr8	86171741	86171741	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccacggctccgagcacatAgtagatggagtgagctatgc	13	10	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:86171741A>G	uc003ydg.2	+	3	669	c.327A>G	c.(325-327)ATA>ATG	p.I109M	CA13_uc003ydf.1_RNA	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	109					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0						CCGAGCACATAGTAGATGGAG	0.498													G	86171741	A	G	86171741	3	3	94	1	0	0	0	0	1	0	0	0	2514	410	15	3	337	3	CA13	8	86171741	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	3565091	86171741	60192281	1641	60774											
CPNE3	8895	broad.mit.edu	37	chr8	87568519	87568519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccccattgggcgaagtgGccatcagagatattgtccag	12	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:87568519G>A	uc003ydv.2	+	16	1606	c.1444G>A	c.(1444-1446)GCC>ACC	p.A482T	CPNE3_uc003ydw.1_Missense_Mutation_p.A198T	NM_003909	NP_003900	O75131	CPNE3_HUMAN	copine III	482	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			ovary(1)|skin(1)	2						GGGCGAAGTGGCCATCAGAGA	0.483													A	87568519	G	A	87568519	3	1	94	1	0	0	0	0	1	0	0	0	3813	1203	42	2	1498	2	CPNE3	8	87568519	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1396778	87568519	58795503	1642	60775											
RUNX1T1	862	broad.mit.edu	37	chr8	92998411	92998411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagtggctgctgctactgCcgccacctttttttaagtcc	9	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:92998411C>T	uc003yfd.2	-	8	1304	c.1220G>A	c.(1219-1221)GGC>GAC	p.G407D	RUNX1T1_uc003yfc.1_Missense_Mutation_p.G380D|RUNX1T1_uc003yfe.1_Missense_Mutation_p.G370D|RUNX1T1_uc010mao.2_Missense_Mutation_p.G380D|RUNX1T1_uc011lgi.1_Missense_Mutation_p.G418D|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.G370D	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	407					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)			GCTGCTACTGCCGCCACCTTT	0.502													T	92998411	C	T	92998411	3	4	94	1	0	0	0	0	1	0	0	0	13747	739	26	2	610	2	RUNX1T1	8	92998411	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	5429892	92998411	53365611	1643	60776											
RUNX1T1	862	broad.mit.edu	37	chr8	92999191	92999191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatttcttcttgacgtgtgCcatgcaaccctacaaaaata	5	11	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:92999191C>T	uc003yfd.2	-	7	1085	c.1001G>A	c.(1000-1002)GGC>GAC	p.G334D	RUNX1T1_uc003yfc.1_Missense_Mutation_p.G307D|RUNX1T1_uc003yfe.1_Missense_Mutation_p.G297D|RUNX1T1_uc010mao.2_Missense_Mutation_p.G307D|RUNX1T1_uc011lgi.1_Missense_Mutation_p.G345D|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.G297D	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	334					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)			TTGACGTGTGCCATGCAACCC	0.418													T	92999191	C	T	92999191	3	4	94	1	0	0	0	0	1	0	0	0	13747	739	26	2	833	2	RUNX1T1	8	92999191	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	780	92999191	53364831	1644	60777											
RBM12B	389677	broad.mit.edu	37	chr8	94745716	94745716	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccatagcttcattatagtTtatcatagcaacaatggctt	6	8	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:94745716T>C	uc003yfz.2	-	3	3116	c.2923A>G	c.(2923-2925)AAC>GAC	p.N975D		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	975	RRM 4.						nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCATTATAGTTTATCATAGCA	0.378													C	94745716	T	C	94745716	3	2	94	1	0	0	0	0	1	0	0	0	13114	1841	64	3	86	3	RBM12B	8	94745716	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1746525	94745716	51618306	1645	60778											
TMEM67	91147	broad.mit.edu	37	chr8	94767147	94767147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagcgtcggtaccatggCgacgcgcggtggggctgggg	19	11	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:94767147C>T	uc011lgk.1	+	1	76	c.5C>T	c.(4-6)GCG>GTG	p.A2V	TMEM67_uc010mau.2_Missense_Mutation_p.A2V|TMEM67_uc010mav.2_Missense_Mutation_p.A2V|TMEM67_uc010mat.1_Intron|TMEM67_uc010maw.2_Missense_Mutation_p.A2V|TMEM67_uc003yga.3_Intron	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	2					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			ovary(2)	2	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GGTACCATGGCGACGCGCGGT	0.652													T	94767147	C	T	94767147	3	4	94	1	0	0	0	0	1	0	0	0	16193	768	27	1	7	1	TMEM67	8	94767147	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	21431	94767147	51596875	1646	60779											
POP1	10940	broad.mit.edu	37	chr8	99149119	99149119	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagatgaacagattccgGctgattgggccactttccca	11	10	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:99149119G>A	uc003yij.3	+	9	1399	c.1299G>A	c.(1297-1299)CGG>CGA	p.R433R	POP1_uc011lgv.1_Silent_p.R433R|POP1_uc003yik.2_Silent_p.R433R	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	433					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			ACAGATTCCGGCTGATTGGGC	0.398													A	99149119	G	A	99149119	2	1	94	1	0	0	0	0	0	0	0	1	12251	1190	42	2		2	POP1	8	99149119	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4381972	99149119	47214903	1647	60780											
NIPAL2	79815	broad.mit.edu	37	chr8	99264772	99264772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagttccccgtctctcccaCggccatcagcaggacaccac	7	18	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:99264772C>T	uc003yil.1	-	3	551	c.295G>A	c.(295-297)GTG>ATG	p.V99M	NIPAL2_uc011lgw.1_5'Flank|NIPAL2_uc003yim.1_Missense_Mutation_p.V99M	NM_024759	NP_079035	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	99	Helical; (Potential).					integral to membrane					0						GTCTCTCCCACGGCCATCAGC	0.498													T	99264772	C	T	99264772	3	4	94	1	0	0	0	0	1	0	0	0	10425	536	19	1	851	1	NIPAL2	8	99264772	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	115653	99264772	47099250	1648	60781											
KCNS2	3788	broad.mit.edu	37	chr8	99441079	99441079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctactttagccaacttggGcagggtggcccaggtcctga	12	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:99441079G>A	uc003yin.2	+	2	1222	c.872G>A	c.(871-873)GGC>GAC	p.G291D		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	291	Extracellular (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GCCAACTTGGGCAGGGTGGCC	0.557													A	99441079	G	A	99441079	3	1	94	1	0	0	0	0	1	0	0	0	8089	1203	42	2	874	2	KCNS2	8	99441079	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	176307	99441079	46922943	1649	60782											
STK3	6788	broad.mit.edu	37	chr8	99539030	99539030	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaacgtttttggacatAgggaagggttcatgcatgtt	13	4	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:99539030A>G	uc003yip.2	-	10	1398	c.1257T>C	c.(1255-1257)CCT>CCC	p.P419P	STK3_uc003yio.2_Silent_p.P447P	NM_006281	NP_006272	Q13188	STK3_HUMAN	serine/threonine kinase 3	419					apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TTTTGGACATAGGGAAGGGTT	0.353													G	99539030	A	G	99539030	2	3	94	1	0	0	0	0	0	0	0	1	15294	407	15	3		3	STK3	8	99539030	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	97951	99539030	46824992	1650	60783											
VPS13B	157680	broad.mit.edu	37	chr8	100831680	100831680	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgtgcagttcccatctcaAcatccctcattaagcaaata	4	12	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:100831680A>G	uc003yiv.2	+	48	8848	c.8737A>G	c.(8737-8739)ACA>GCA	p.T2913A	VPS13B_uc003yiw.2_Missense_Mutation_p.T2888A	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2913					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCCCATCTCAACATCCCTCAT	0.373													G	100831680	A	G	100831680	3	3	94	1	0	0	0	0	1	0	0	0	17187	43	2	3	9117	3	VPS13B	8	100831680	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1292650	100831680	45532342	1651	60784											
FBXO43	286151	broad.mit.edu	37	chr8	101154026	101154026	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaccttctgcgaggtaaAcattttttcccactgatttt	5	10	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:101154026A>G	uc003yjd.2	-	2	1169	c.456T>C	c.(454-456)TGT>TGC	p.C152C	FBXO43_uc003yje.2_Silent_p.C118C|FBXO43_uc010mbp.1_Silent_p.C152C	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	152					meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TGCGAGGTAAACATTTTTTCC	0.348													G	101154026	A	G	101154026	2	3	94	1	0	0	0	0	0	0	0	1	5752	41	2	3		3	FBXO43	8	101154026	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	322346	101154026	45209996	1652	60785											
RNF19A	25897	broad.mit.edu	37	chr8	101300184	101300184	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttacgtttgttatcttttttCctccgaaacagggagcctat	7	9	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:101300184C>T	uc003yjj.1	-	3	536	c.219G>A	c.(217-219)AGG>AGA	p.R73R	RNF19A_uc003yjk.1_Silent_p.R73R|RNF19A_uc003yjl.1_Silent_p.R73R	NM_015435	NP_056250	Q9NV58	RN19A_HUMAN	ring finger protein 19	73					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TATCTTTTTTCCTCCGAAACA	0.403													T	101300184	C	T	101300184	2	4	94	1	0	0	0	0	0	0	0	1	13470	854	30	4		4	RNF19A	8	101300184	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	146158	101300184	45063838	1653	60786											
KLF10	7071	broad.mit.edu	37	chr8	103663818	103663818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacttctgttgtggggacaCaggggctggctgagacctgc	16	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:103663818C>T	uc011lhk.1	-	3	896	c.742G>A	c.(742-744)GTG>ATG	p.V248M	KLF10_uc011lhj.1_Missense_Mutation_p.V237M	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Kruppel-like factor 10 isoform a	248					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TGTGGGGACACAGGGGCTGGC	0.542											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	103663818	C	T	103663818	3	4	94	1	0	0	0	0	1	0	0	0	8338	478	17	4	708	4	KLF10	8	103663818	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2363634	103663818	42700204	1654	60787											
RIMS2	9699	broad.mit.edu	37	chr8	104927779	104927779	+	Frame_Shift_Del	DEL	A	A	-													tgtgcatttattactaaagtAaaaaaaggaagtttagctga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:104927778_104927778TA>T	uc003yls.3	+	4	1443	c.1202_1202TA>T	c.(1201-1203)gtafs	p.V401fs	RIMS2_uc003ylp.3_Frame_Shift_Del_p.V623fs|RIMS2_uc003ylw.2_Frame_Shift_Del_p.V431fs|RIMS2_uc003ylq.3_Frame_Shift_Del_p.V431fs|RIMS2_uc003ylr.3_Frame_Shift_Del_p.V478fs|RIMS2_uc003ylt.3_Frame_Shift_Del_p.V24fs|RIMS2_uc003ylu.1_Frame_Shift_Del_p.V14fs|RIMS2_uc003ylv.1_Frame_Shift_Del_p.V14fs	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	701					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATTACTAAAGTAAAAAAAGGA	0.323										HNSCC(12;0.0054)			-	104927779	A	-	104927779	7	5	94	1	0	1	0	1	0	0	0	0	13368	349	13	0	2021	0	RIMS2	8	104927779	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	1263961	104927779	41436243	1655	60788											
LRP12	29967	broad.mit.edu	37	chr8	105601078	105601078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaggaaaagcaagagcaaCgcagacctccaccgcggaga	13	12	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:105601078C>T	uc003yma.2	-	1	143	c.48G>A	c.(46-48)GCG>GCA	p.A16A	LRP12_uc003ymb.2_Silent_p.A16A|LRP12_uc003ymc.3_Silent_p.A16A	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	16					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCAAGAGCAACGCAGACCTCC	0.522													T	105601078	C	T	105601078	2	4	94	1	0	0	0	0	0	0	0	1	8954	523	19	1		1	LRP12	8	105601078	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	673299	105601078	40762944	1656	60789											
ZFPM2	23414	broad.mit.edu	37	chr8	106813943	106813943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatttacagccctttgatgCccaagggggctacttgtttt	9	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:106813943C>T	uc003ymd.2	+	8	1656	c.1633C>T	c.(1633-1635)CCC>TCC	p.P545S	ZFPM2_uc011lhs.1_Missense_Mutation_p.P276S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	545					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCCTTTGATGCCCAAGGGGGC	0.448													T	106813943	C	T	106813943	3	4	94	1	0	0	0	0	1	0	0	0	17655	739	26	2	1663	2	ZFPM2	8	106813943	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1212865	106813943	39550079	1657	60790											
OXR1	55074	broad.mit.edu	37	chr8	107718739	107718739	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcactgctcctaggagcacTgaggagtctctttctgaaga	11	10	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:107718739T>C	uc011lht.1	+	8	1092	c.993T>C	c.(991-993)ACT>ACC	p.T331T	OXR1_uc003ymf.2_Silent_p.T330T|OXR1_uc011lhu.1_Silent_p.T323T|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_Silent_p.T28T|OXR1_uc003ymg.1_Silent_p.T263T|OXR1_uc003ymi.1_Silent_p.T242T	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	331					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CTAGGAGCACTGAGGAGTCTC	0.433													C	107718739	T	C	107718739	2	2	94	1	0	0	0	0	0	0	0	1	11334	1567	55	3		3	OXR1	8	107718739	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	904796	107718739	38645283	1658	60791											
DSCC1	79075	broad.mit.edu	37	chr8	120865336	120865336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccttcttcaactggtccGgagttttacaaccaggaatg	8	11	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:120865336G>A	uc003yov.2	-	2	437	c.302C>T	c.(301-303)CCG>CTG	p.P101L		NM_024094	NP_076999	Q9BVC3	DCC1_HUMAN	defective in sister chromatid cohesion 1	101					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			pancreas(1)	1	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CAACTGGTCCGGAGTTTTACA	0.383													A	120865336	G	A	120865336	3	1	94	1	0	0	0	0	1	0	0	0	4770	1116	39	1	911	1	DSCC1	8	120865336	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	13146597	120865336	25498686	1659	60792											
DEPDC6	64798	broad.mit.edu	37	chr8	121021305	121021305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggctggggttttgtggtgcGaggaagtaagccatgccaca	16	7	0	0	rs147712866	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:121021305G>A	uc003yow.3	+	8	1221	c.1034G>A	c.(1033-1035)CGA>CAA	p.R345Q	DEPDC6_uc011lid.1_Missense_Mutation_p.R244Q	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	DEP domain containing 6	345	PDZ.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding				0	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTTGTGGTGCGAGGAAGTAAG	0.517													A	121021305	G	A	121021305	3	1	94	1	0	0	0	0	1	0	0	0	4443	1058	37	1	1064	1	DEPDC6	8	121021305	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	155969	121021305	25342717	1660	60793											
SNTB1	6641	broad.mit.edu	37	chr8	121644750	121644750	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcctgttttccccagctgCtctctgacctcagcaatcac	6	16	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:121644750C>T	uc010mdg.2	-	3	1156	c.930G>A	c.(928-930)GAG>GAA	p.E310E	SNTB1_uc003ype.2_Silent_p.E310E	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	310					muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			skin(5)	5	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TCCCCAGCTGCTCTCTGACCT	0.527													T	121644750	C	T	121644750	2	4	94	1	0	0	0	0	0	0	0	1	14872	796	28	2		2	SNTB1	8	121644750	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	623445	121644750	24719272	1661	60794											
ZHX2	22882	broad.mit.edu	37	chr8	123965085	123965085	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaccagccagtgaccgcaaGaagacaaaggagcagatagc	11	11	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:123965085G>T	uc003ypk.1	+	3	1902	c.1335G>T	c.(1333-1335)AAG>AAT	p.K445N		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	445	Required for interaction with NFYA.|Homeobox 2.|Required for repressor activity.|Required for nuclear localization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GTGACCGCAAGAAGACAAAGG	0.617													T	123965085	G	T	123965085	3	4	94	1	0	0	0	0	1	0	0	0	17673	933	33	5	1337	5	ZHX2	8	123965085	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2320335	123965085	22398937	1662	60795											
FBXO32	114907	broad.mit.edu	37	chr8	124515635	124515635	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaacttgaacaagttgataAagtcctggggtgaaagtgaa	12	4	0	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:124515635A>G	uc003yqr.2	-	9	1238	c.1046T>C	c.(1045-1047)TTT>TCT	p.F349S	FBXO32_uc003yqq.2_Missense_Mutation_p.F204S|FBXO32_uc010mdk.2_Missense_Mutation_p.F256S|uc003yqp.1_5'Flank	NM_058229	NP_478136	Q969P5	FBX32_HUMAN	F-box only protein 32 isoform 1	349										skin(3)|breast(2)|lung(1)	6	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAAGTTGATAAAGTCCTGGGG	0.493													G	124515635	A	G	124515635	3	3	94	1	0	0	0	0	1	0	0	0	5742	14	1	3	25	3	FBXO32	8	124515635	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	550550	124515635	21848387	1663	60796											
ANXA13	312	broad.mit.edu	37	chr8	124714888	124714888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccctggaatcaccttgccGtacgttgccttgtacttttg	8	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:124714888G>A	uc003yqu.2	-	3	253	c.180C>T	c.(178-180)TAC>TAT	p.Y60Y	ANXA13_uc003yqt.2_Silent_p.Y101Y	NM_004306	NP_004297	P27216	ANX13_HUMAN	annexin A13 isoform a	60	Annexin 1.				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TCACCTTGCCGTACGTTGCCT	0.507													A	124714888	G	A	124714888	2	1	94	1	0	0	0	0	0	0	0	1	717	1140	40	1		1	ANXA13	8	124714888	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	199253	124714888	21649134	1664	60797											
FER1L6	654463	broad.mit.edu	37	chr8	124992883	124992883	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggacgggcacaggaatctaaAttttccaaggccctgaagga	12	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:124992883A>T	uc003yqw.2	+	11	1448	c.1242A>T	c.(1240-1242)AAA>AAT	p.K414N		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	414	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGGAATCTAAATTTTCCAAGG	0.453											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	124992883	A	T	124992883	3	4	94	1	0	0	0	0	1	0	0	0	5815	98	4	5	1280	5	FER1L6	8	124992883	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	277995	124992883	21371139	1665	60798											
FER1L6	654463	broad.mit.edu	37	chr8	125113580	125113580	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcagatgacttcctggGtaagccagtggcttcatcaa	10	11	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:125113580G>A	uc003yqw.2	+	38	5331	c.5125_splice	c.e38+1	p.G1709_splice	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6							integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GACTTCCTGGGTAAGCCAGTG	0.383													A	125113580	G	A	125113580	5	1	94	1	0	0	0	0	0	0	1	0	5815	1275	44	4	5272	4	FER1L6	8	125113580	Splice_Site	SNP	G	TCGA-BR-8487-01A-11D-2394-08	120697	125113580	21250442	1666	60799											
NDUFB9	4715	broad.mit.edu	37	chr8	125562077	125562077	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccctgcccgaaaggaaggtGatttgcccccactgtggtgg	13	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:125562077G>A	uc003yrg.3	+	4	569	c.484G>A	c.(484-486)GAT>AAT	p.D162N	NDUFB9_uc011lim.1_Intron	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	162					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			ovary(1)|skin(1)	2	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	AAAGGAAGGTGATTTGCCCCC	0.517													A	125562077	G	A	125562077	3	1	94	1	0	0	0	0	1	0	0	0	10288	1290	45	4	498	4	NDUFB9	8	125562077	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	448497	125562077	20801945	1667	60800											
KIAA0196	9897	broad.mit.edu	37	chr8	126049532	126049532	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcgatcaaaaatagaaagTttacaattggaaaatagggt	10	3	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:126049532T>C	uc003yrt.2	-	26	3457	c.3128A>G	c.(3127-3129)AAC>AGC	p.N1043S	KIAA0196_uc011lir.1_Missense_Mutation_p.N895S|KIAA0196_uc003yru.1_Missense_Mutation_p.N617S	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	1043					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AAATAGAAAGTTTACAATTGG	0.318													C	126049532	T	C	126049532	3	2	94	1	0	0	0	0	1	0	0	0	8161	1725	60	3	367	3	KIAA0196	8	126049532	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	487455	126049532	20314490	1668	60801											
ADCY8	114	broad.mit.edu	37	chr8	131964196	131964196	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacattggtcatgtcgttgaTcatttccaggacaacaaacc	7	11	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:131964196T>C	uc003ytd.3	-	3	1415	c.1159A>G	c.(1159-1161)ATC>GTC	p.I387V	ADCY8_uc010mds.2_Missense_Mutation_p.I387V	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	387	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATGTCGTTGATCATTTCCAGG	0.527										HNSCC(32;0.087)			C	131964196	T	C	131964196	3	2	94	1	0	0	0	0	1	0	0	0	300	1435	50	3	2660	3	ADCY8	8	131964196	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	5914664	131964196	14399826	1669	60802											
ADCY8	114	broad.mit.edu	37	chr8	132052023	132052023	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtcagcacgtccagcacgTtcatcaccacttccgatttg	8	14	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:132052023T>C	uc003ytd.3	-	1	813	c.557A>G	c.(556-558)AAC>AGC	p.N186S	ADCY8_uc010mds.2_Missense_Mutation_p.N186S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	186	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTCCAGCACGTTCATCACCAC	0.567										HNSCC(32;0.087)			C	132052023	T	C	132052023	3	2	94	1	0	0	0	0	1	0	0	0	300	1725	60	3	3270	3	ADCY8	8	132052023	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	87827	132052023	14311999	1670	60803											
PHF20L1	51105	broad.mit.edu	37	chr8	133854953	133854953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacttatataacaagtgagCatagctatcaaaagccacaa	6	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:133854953C>T	uc003ytt.2	+	19	2906	c.2581C>T	c.(2581-2583)CAT>TAT	p.H861Y	PHF20L1_uc011lja.1_Missense_Mutation_p.H835Y	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	861							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AACAAGTGAGCATAGCTATCA	0.393													T	133854953	C	T	133854953	3	4	94	1	0	0	0	0	1	0	0	0	11832	710	25	2	2747	2	PHF20L1	8	133854953	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1802930	133854953	12509069	1671	60804											
TG	7038	broad.mit.edu	37	chr8	133883650	133883650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgagtggctacattaacaGcacagacacctcctacctcc	6	15	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:133883650G>A	uc003ytw.2	+	4	373	c.332G>A	c.(331-333)AGC>AAC	p.S111N		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	111	Thyroglobulin type-1 2.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TACATTAACAGCACAGACACC	0.507													A	133883650	G	A	133883650	3	1	94	1	0	0	0	0	1	0	0	0	15810	971	34	2	346	2	TG	8	133883650	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	28697	133883650	12480372	1672	60805											
SLA	6503	broad.mit.edu	37	chr8	134063100	134063101	+	Frame_Shift_Ins	INS	-	-	G													ctcccctcggcggaatatcgINSgggggctgatgtcaggagac					rs143198289		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:134063099_134063100C>CG	uc011ljd.2	-	1	320_321	c.242_243G>CG	c.(241-243)ccgfs	p.P81fs	TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Frame_Shift_Ins_p.P41fs|SLA_uc011lje.2_Frame_Shift_Ins_p.P58fs|SLA_uc011ljf.2_5'UTR|SLA_uc011ljg.2_Frame_Shift_Ins_p.P58fs|SLA_uc010mdy.1_Frame_Shift_Ins_p.P41fs|SLA_uc010mdz.1_Frame_Shift_Ins_p.P41fs|SLA_uc010mea.2_Non-coding_Transcript	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.	41	SH3.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			GGCGGAATATCGGGGGGCTGAT	0.525													G	134063101	-	G	134063100	7	5	94	1	0	1	1	0	0	0	0	0	14363	1116	39	0	732	0	SLA	8	134063100	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	179450	134063100	12300922	1673	60806											
ZFAT	57623	broad.mit.edu	37	chr8	135613725	135613725	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctttccttaccacagTattcacactccaggtctcca	5	16	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:135613725T>C	uc003yup.2	-	6	2412	c.2237A>G	c.(2236-2238)TAC>TGC	p.Y746C	ZFAT_uc003yun.2_Missense_Mutation_p.Y734C|ZFAT_uc003yuo.2_Missense_Mutation_p.Y734C|ZFAT_uc010meh.2_Missense_Mutation_p.Y734C|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.Y734C|ZFAT_uc010mej.2_Missense_Mutation_p.Y684C|ZFAT_uc003yur.2_Missense_Mutation_p.Y734C	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	746	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTTACCACAGTATTCACACTC	0.498													C	135613725	T	C	135613725	3	2	94	1	0	0	0	0	1	0	0	0	17629	1638	57	3	1538	3	ZFAT	8	135613725	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1550625	135613725	10750297	1674	60807											
KCNK9	51305	broad.mit.edu	37	chr8	140631269	140631269	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaacatgaccagtgtcagCgggatgcccagcacggcgta	14	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:140631269C>T	uc003yvf.1	-	2	421	c.357G>A	c.(355-357)CCG>CCA	p.P119P	KCNK9_uc003yvg.1_Silent_p.P119P|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	119	Helical; (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CCAGTGTCAGCGGGATGCCCA	0.592													T	140631269	C	T	140631269	2	4	94	1	0	0	0	0	0	0	0	1	8072	755	27	1		1	KCNK9	8	140631269	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	5017544	140631269	5732753	1675	60808											
TRAPPC9	83696	broad.mit.edu	37	chr8	140744288	140744288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggtcgtagttgtgcacGccgttctggtggtcctggaa	15	9	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:140744288G>A	uc003yvj.2	-	22	3347	c.3213C>T	c.(3211-3213)GGC>GGT	p.G1071G	TRAPPC9_uc003yvh.2_Silent_p.G1169G	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	1071					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						AGTTGTGCACGCCGTTCTGGT	0.682													A	140744288	G	A	140744288	2	1	94	1	0	0	0	0	0	0	0	1	16462	1074	38	1		1	TRAPPC9	8	140744288	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	113019	140744288	5619734	1676	60809											
EIF2C2	27161	broad.mit.edu	37	chr8	141549445	141549445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcttgtcagtgcagaagaGccgggtgtggtgcctcttct	14	9	4	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:141549445G>A	uc003yvn.2	-	16	2183	c.2143C>T	c.(2143-2145)CTC>TTC	p.L715F	EIF2C2_uc010men.2_Missense_Mutation_p.L638F|EIF2C2_uc010meo.2_Missense_Mutation_p.L715F	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	715	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			GTGCAGAAGAGCCGGGTGTGG	0.592													A	141549445	G	A	141549445	3	1	94	1	0	0	0	0	1	0	0	0	5006	971	34	2	452	2	EIF2C2	8	141549445	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	805157	141549445	4814577	1677	60810											
EIF2C2	27161	broad.mit.edu	37	chr8	141567236	141567236	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtccgacttgtaaacaTgggaggtgggggtagcgcag	16	8	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:141567236T>C	uc003yvn.2	-	8	1018	c.978A>G	c.(976-978)CCA>CCG	p.P326P	EIF2C2_uc010men.2_Silent_p.P249P|EIF2C2_uc010meo.2_Silent_p.P326P	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	326	PAZ.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			CTTGTAAACATGGGAGGTGGG	0.612													C	141567236	T	C	141567236	2	2	94	1	0	0	0	0	0	0	0	1	5006	1451	51	3		3	EIF2C2	8	141567236	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	17791	141567236	4796786	1678	60811											
DENND3	22898	broad.mit.edu	37	chr8	142151330	142151330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttctacaatggcaaaaCgcaccgggagtgtcctggct	11	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:142151330C>T	uc003yvy.2	+	4	568	c.290C>T	c.(289-291)ACG>ATG	p.T97M	DENND3_uc003yvw.1_Missense_Mutation_p.T110M|DENND3_uc003yvx.2_Missense_Mutation_p.R176C|DENND3_uc010mep.2_Missense_Mutation_p.T110M	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	97										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AATGGCAAAACGCACCGGGAG	0.532													T	142151330	C	T	142151330	3	4	94	1	0	0	0	0	1	0	0	0	4432	536	19	1	300	1	DENND3	8	142151330	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	584094	142151330	4212692	1679	60812											
LYPD2	137797	broad.mit.edu	37	chr8	143832494	143832495	+	Frame_Shift_Ins	INS	-	-	T													cccgggagtagagtgtggtcINSttgcacatggtttcgttggt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:143832494_143832495insT	uc003ywz.2	-	2	235_236	c.152_153insA	c.(151-153)AAGfs	p.K51fs		NM_205545	NP_991108	Q6UXB3	LYPD2_HUMAN	LY6/PLAUR domain containing 2 precursor	51	UPAR/Ly6.					anchored to membrane|plasma membrane					0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGAGTGTGGTCTTGCACATGGT	0.649													T	143832495	-	T	143832494	7	5	94	1	0	1	1	0	0	0	0	0	9110	912	32	0	232	0	LYPD2	8	143832494	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1681164	143832494	2531528	1680	60813	284	2									
LYPD2	137797	broad.mit.edu	37	chr8	143832495	143832496	+	Frame_Shift_Ins	INS	-	-	T													ccgggagtagagtgtggtctINStgcacatggtttcgttggtg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:143832494_143832495C>CT	uc003ywz.3	-	1	235_236	c.152_153G>AG	c.(151-153)aagfs	p.K51fs		NM_205545	NP_991108	Q6UXB3	LYPD2_HUMAN	Homo sapiens LY6/PLAUR domain containing 2 (LYPD2), mRNA.	51	UPAR/Ly6.					anchored to membrane|plasma membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGAGTGTGGTCTTGCACATGGT	0.649													T	143832496	-	T	143832495	7	5	94	1	0	1	1	0	0	0	0	0	9110	1609	56	0	233	0	LYPD2	8	143832495	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	143832495	2531527	1681	60814	284	2									
ZNF696	79943	broad.mit.edu	37	chr8	144378556	144378556	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaccggggagaggctgtaCgcgtgcggcgagtgcgggaa	19	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:144378556C>T	uc003yxy.3	+	3	1120	c.711C>T	c.(709-711)TAC>TAT	p.Y237Y		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	237	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AGAGGCTGTACGCGTGCGGCG	0.726													T	144378556	C	T	144378556	2	4	94	1	0	0	0	0	0	0	0	1	18096	547	19	1		1	ZNF696	8	144378556	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	546061	144378556	1985466	1682	60815											
NAPRT1	93100	broad.mit.edu	37	chr8	144657425	144657425	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctcacggtgcagggcTcctgggcccctggaggccac	15	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:144657425T>C	uc003yym.3	-	11	1407	c.1382A>G	c.(1381-1383)GAG>GGG	p.E461G	C8orf73_uc010mff.2_5'Flank|C8orf73_uc010mfg.1_5'Flank|NAPRT1_uc003yyn.3_Missense_Mutation_p.E461G|NAPRT1_uc011lkh.1_Missense_Mutation_p.E461G|NAPRT1_uc003yyo.3_Missense_Mutation_p.E461G	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain	461					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGTGCAGGGCTCCTGGGCCCC	0.677													C	144657425	T	C	144657425	3	2	94	1	0	0	0	0	1	0	0	0	10165	1551	54	3	246	3	NAPRT1	8	144657425	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	278869	144657425	1706597	1683	60816											
EPPK1	83481	broad.mit.edu	37	chr8	144940342	144940342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccgcgccggtaggccacGtccacgggcacgcggtggct	16	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:144940342G>A	uc003zaa.1	-	2	15103	c.15090C>T	c.(15088-15090)GAC>GAT	p.D5030D		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	5030	Plectin 64.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTAGGCCACGTCCACGGGCA	0.692													A	144940342	G	A	144940342	2	1	94	1	0	0	0	0	0	0	0	1	5190	1136	40	1		1	EPPK1	8	144940342	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	282917	144940342	1423680	1684	60817											
EPPK1	83481	broad.mit.edu	37	chr8	144940610	144940610	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcacggggtcgatgacgAagccggtggccgcctgcgcc	17	14	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:144940610A>G	uc003zaa.1	-	2	14835	c.14822T>C	c.(14821-14823)TTC>TCC	p.F4941S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	4941	Plectin 62.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCGATGACGAAGCCGGTGGC	0.716													G	144940610	A	G	144940610	3	3	94	1	0	0	0	0	1	0	0	0	5190	246	9	3	454	3	EPPK1	8	144940610	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	268	144940610	1423412	1685	60818											
EPPK1	83481	broad.mit.edu	37	chr8	144941902	144941902	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttgatgccttggttttgCgtctctgtttcttcaattgt	8	8	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:144941902C>T	uc003zaa.1	-	1	5533	c.5520G>A	c.(5518-5520)ACG>ACA	p.T1840T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1840						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTGGTTTTGCGTCTCTGTTT	0.542													T	144941902	C	T	144941902	2	4	94	1	0	0	0	0	0	0	0	1	5190	755	27	1		1	EPPK1	8	144941902	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1292	144941902	1422120	1686	60819											
PLEC	5339	broad.mit.edu	37	chr8	144990789	144990789	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacgcggcccggcgtgtcGggctcgatcaagccgccggt	17	15	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:144990789G>A	uc003zaf.1	-	32	13781	c.13611C>T	c.(13609-13611)CCC>CCT	p.P4537P	PLEC_uc003zab.1_Silent_p.P4400P|PLEC_uc003zac.1_Silent_p.P4404P|PLEC_uc003zad.2_Silent_p.P4400P|PLEC_uc003zae.1_Silent_p.P4368P|PLEC_uc003zag.1_Silent_p.P4378P|PLEC_uc003zah.2_Silent_p.P4386P|PLEC_uc003zaj.2_Silent_p.P4427P	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4537	Plectin 32.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCGGCGTGTCGGGCTCGATCA	0.706													A	144990789	G	A	144990789	2	1	94	1	0	0	0	0	0	0	0	1	12052	1103	39	1		1	PLEC	8	144990789	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	48887	144990789	1373233	1687	60820											
PLEC	5339	broad.mit.edu	37	chr8	144990949	144990949	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgggccaggttgatgcggTccaccatgatcttgtccacc	11	13	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:144990949T>C	uc003zaf.1	-	32	13621	c.13451A>G	c.(13450-13452)GAC>GGC	p.D4484G	PLEC_uc003zab.1_Missense_Mutation_p.D4347G|PLEC_uc003zac.1_Missense_Mutation_p.D4351G|PLEC_uc003zad.2_Missense_Mutation_p.D4347G|PLEC_uc003zae.1_Missense_Mutation_p.D4315G|PLEC_uc003zag.1_Missense_Mutation_p.D4325G|PLEC_uc003zah.2_Missense_Mutation_p.D4333G|PLEC_uc003zaj.2_Missense_Mutation_p.D4374G	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4484	Globular 2.|Plectin 31.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GTTGATGCGGTCCACCATGAT	0.657													C	144990949	T	C	144990949	3	2	94	1	0	0	0	0	1	0	0	0	12052	1667	58	3	607	3	PLEC	8	144990949	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	160	144990949	1373073	1688	60821											
PLEC	5339	broad.mit.edu	37	chr8	144999695	144999695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccctcagccccgccacGctggcgctcggtggcctcca	10	22	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:144999695G>A	uc003zaf.1	-	31	4983	c.4813C>T	c.(4813-4815)CGT>TGT	p.R1605C	PLEC_uc003zab.1_Missense_Mutation_p.R1468C|PLEC_uc003zac.1_Missense_Mutation_p.R1472C|PLEC_uc003zad.2_Missense_Mutation_p.R1468C|PLEC_uc003zae.1_Missense_Mutation_p.R1436C|PLEC_uc003zag.1_Missense_Mutation_p.R1446C|PLEC_uc003zah.2_Missense_Mutation_p.R1454C|PLEC_uc003zaj.2_Missense_Mutation_p.R1495C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1605	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCCCCGCCACGCTGGCGCTCG	0.731													A	144999695	G	A	144999695	3	1	94	1	0	0	0	0	1	0	0	0	12052	1087	38	1	9249	1	PLEC	8	144999695	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	8746	144999695	1364327	1689	60822											
PARP10	84875	broad.mit.edu	37	chr8	145057704	145057704	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctgctccagcagggagaGggttagggcttgccgcaggg	20	9	0	1	rs146044528	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:145057704G>T	uc003zal.3	-	8	2161	c.2053C>A	c.(2053-2055)CTC>ATC	p.L685I	PARP10_uc003zak.3_Missense_Mutation_p.L382I|PARP10_uc011lku.1_Missense_Mutation_p.L697I|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.L676I	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	685	Glu-rich.|Ubiquitin-interacting.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCAGGGAGAGGGTTAGGGCT	0.677													T	145057704	G	T	145057704	3	4	94	1	0	0	0	0	1	0	0	0	11455	1000	35	5	1040	5	PARP10	8	145057704	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	58009	145057704	1306318	1690	60823											
CYC1	1537	broad.mit.edu	37	chr8	145150773	145150773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtctggcctttcccgagGccggaaagtgatgctgtcag	14	10	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:145150773G>A	uc003zaz.3	+	2	210	c.167G>A	c.(166-168)GGC>GAC	p.G56D	CYC1_uc003zay.2_5'UTR	NM_001916	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	56					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTTCCCGAGGCCGGAAAGTG	0.652											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	145150773	G	A	145150773	3	1	94	1	0	0	0	0	1	0	0	0	4135	1203	42	2	173	2	CYC1	8	145150773	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	93069	145150773	1213249	1691	60824											
ZNF517	340385	broad.mit.edu	37	chr8	146033597	146033597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccgagtgcggcaaggcGttccgcaggagctacacgct	14	13	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:146033597G>A	uc003zed.1	+	5	1403	c.1296G>A	c.(1294-1296)GCG>GCA	p.A432A	ZNF517_uc010mgd.1_Silent_p.A338A|ZNF517_uc003zee.1_RNA|ZNF517_uc011llm.1_Silent_p.A338A|ZNF517_uc003zef.1_Intron	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	432	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GCGGCAAGGCGTTCCGCAGGA	0.667													A	146033597	G	A	146033597	2	1	94	1	0	0	0	0	0	0	0	1	17958	1132	40	1		1	ZNF517	8	146033597	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	882824	146033597	330425	1692	60825											
ZNF16	7564	broad.mit.edu	37	chr8	146156380	146156380	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacacaggtgtagggttttTccccagtatgaactttctgg	10	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:146156380T>C	uc003zet.2	-	4	1980	c.1793A>G	c.(1792-1794)GAA>GGA	p.E598G	ZNF16_uc003zeu.2_Missense_Mutation_p.E598G	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GTAGGGTTTTTCCCCAGTATG	0.488													C	146156380	T	C	146156380	3	2	94	1	0	0	0	0	1	0	0	0	17735	1783	62	3	259	3	ZNF16	8	146156380	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	122783	146156380	207642	1693	60826											
ZNF16	7564	broad.mit.edu	37	chr8	146156435	146156435	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagcttcggttgaaggcttTaccacactggttacattcat	9	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:146156435T>C	uc003zet.2	-	4	1925	c.1738A>G	c.(1738-1740)AAA>GAA	p.K580E	ZNF16_uc003zeu.2_Missense_Mutation_p.K580E	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	580	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TTGAAGGCTTTACCACACTGG	0.463													C	146156435	T	C	146156435	3	2	94	1	0	0	0	0	1	0	0	0	17735	1763	61	3	314	3	ZNF16	8	146156435	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	55	146156435	207587	1694	60827											
SMARCA2	6595	broad.mit.edu	37	chr9	2039678	2039678	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctcagattttagcttatAaaatgctggcccgaggccag	11	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:2039678A>G	uc003zhc.2	+	4	667	c.568A>G	c.(568-570)AAA>GAA	p.K190E	SMARCA2_uc003zhd.2_Missense_Mutation_p.K190E|SMARCA2_uc010mha.2_Missense_Mutation_p.K181E	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	190					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TTTAGCTTATAAAATGCTGGC	0.512													G	2039678	A	G	2039678	3	3	94	1	0	0	0	0	1	0	0	0	14769	363	13	3	578	3	SMARCA2	9	2039678	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08		2039678	139173753	1695	60828											
SMARCA2	6595	broad.mit.edu	37	chr9	2191331	2191331	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggccgggacaaagggaaaGgcaagaaaaggccaaatcga	14	7	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:2191331G>T	uc003zhc.2	+	33	4759	c.4660G>T	c.(4660-4662)GGC>TGC	p.G1554C	SMARCA2_uc003zhd.2_Missense_Mutation_p.G1536C|SMARCA2_uc010mha.2_Missense_Mutation_p.G1469C|SMARCA2_uc011llw.1_Missense_Mutation_p.G240C|SMARCA2_uc003zhf.2_Missense_Mutation_p.G218C|SMARCA2_uc011llx.1_Missense_Mutation_p.G200C|SMARCA2_uc003zhe.2_Missense_Mutation_p.G242C|SMARCA2_uc003zhg.2_Missense_Mutation_p.G200C|SMARCA2_uc010mhb.2_Missense_Mutation_p.G224C	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1554					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CAAAGGGAAAGGCAAGAAAAG	0.438													T	2191331	G	T	2191331	3	4	94	1	0	0	0	0	1	0	0	0	14769	1000	35	5	4786	5	SMARCA2	9	2191331	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	151653	2191331	139022100	1696	60829											
KCNV2	169522	broad.mit.edu	37	chr9	2718806	2718806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgctcgagtgcttcaCgggcgagggccaccaacgcg	15	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:2718806C>T	uc003zho.1	+	1	1281	c.1067C>T	c.(1066-1068)ACG>ATG	p.T356M		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	356	Helical; Name=Segment S3; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		GAGTGCTTCACGGGCGAGGGC	0.672													T	2718806	C	T	2718806	3	4	94	1	0	0	0	0	1	0	0	0	8095	536	19	1	1069	1	KCNV2	9	2718806	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	527475	2718806	138494625	1697	60830											
GLIS3	169792	broad.mit.edu	37	chr9	4117916	4117916	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgatgtggaccttctcgAtgtgccgcacgagctcctcc	12	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:4117916A>G	uc003zhw.1	-	3	1291	c.1097T>C	c.(1096-1098)ATC>ACC	p.I366T	GLIS3_uc003zhx.1_Missense_Mutation_p.I521T|GLIS3_uc003zic.1_Missense_Mutation_p.I521T|GLIS3_uc003zie.1_Missense_Mutation_p.I521T|GLIS3_uc010mhh.1_Missense_Mutation_p.I396T|GLIS3_uc003zid.1_Missense_Mutation_p.I299T|GLIS3_uc010mhi.1_Missense_Mutation_p.I328T|GLIS3_uc003zif.1_Missense_Mutation_p.I299T|GLIS3_uc003zig.1_Missense_Mutation_p.I365T|GLIS3_uc003zih.1_Missense_Mutation_p.I299T|GLIS3_uc003zhy.1_Missense_Mutation_p.I299T|GLIS3_uc003zhz.1_Missense_Mutation_p.I299T|GLIS3_uc003zib.1_Missense_Mutation_p.I365T|GLIS3_uc010mhg.1_Missense_Mutation_p.I299T	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	366	C2H2-type 1.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GACCTTCTCGATGTGCCGCAC	0.617													G	4117916	A	G	4117916	3	3	94	1	0	0	0	0	1	0	0	0	6447	333	12	3	1262	3	GLIS3	9	4117916	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1399110	4117916	137095515	1698	60831											
KIAA2026	158358	broad.mit.edu	37	chr9	5968162	5968162	+	Frame_Shift_Del	DEL	T	T	-													tcaaaacatctttcaatttcTtttttttctttttcttcttt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:5968162delT	uc003zjq.3	-	3	2285	c.2069delA	c.(2068-2070)AAGfs	p.K690fs		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	690	Lys-rich.									ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTTCAATTTCTTTTTTTTCTT	0.333													-	5968162	T	-	5968162	7	5	94	1	0	1	0	1	0	0	0	0	8270	1609	56	0	4266	0	KIAA2026	9	5968162	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	1850246	5968162	135245269	1699	60832											
MPDZ	8777	broad.mit.edu	37	chr9	13183417	13183417	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattggcttttcctttgtacCttaggaggagatgatggaag	12	5	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:13183417C>A	uc010mia.1	-	18	2706	c.2649G>T	c.(2647-2649)AAG>AAT	p.K883N	MPDZ_uc010mhy.2_Missense_Mutation_p.K883N|MPDZ_uc010mhz.2_Missense_Mutation_p.K883N|MPDZ_uc011lmn.1_Missense_Mutation_p.K883N|MPDZ_uc003zlb.3_Missense_Mutation_p.K883N	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	883					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		TCCTTTGTACCTTAGGAGGAG	0.408													A	13183417	C	A	13183417	3	1	94	1	0	0	0	0	1	0	0	0	9722	695	24	5	3588	5	MPDZ	9	13183417	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	7215255	13183417	128030014	1700	60833											
C9orf93	203238	broad.mit.edu	37	chr9	15744460	15744460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctctatagccgatcatgcGccttgtctacacagagagat	8	13	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:15744460G>A	uc003zmd.2	+	17	2554	c.2239G>A	c.(2239-2241)GCC>ACC	p.A747T	C9orf93_uc010mih.1_Missense_Mutation_p.A755T|C9orf93_uc003zme.2_Missense_Mutation_p.A662T|C9orf93_uc011lmu.1_Missense_Mutation_p.A755T|C9orf93_uc003zmf.1_Missense_Mutation_p.A55T	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	747											0				GBM - Glioblastoma multiforme(50;4.84e-07)		CCGATCATGCGCCTTGTCTAC	0.458													A	15744460	G	A	15744460	3	1	94	1	0	0	0	0	1	0	0	0	2506	1087	38	1	2301	1	C9orf93	9	15744460	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2561043	15744460	125468971	1701	60834											
BNC2	54796	broad.mit.edu	37	chr9	16436034	16436034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactcgttctcatagtcccGctcaggttcttggtcttcag	9	12	5	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:16436034G>A	uc003zml.2	-	6	2298	c.2158C>T	c.(2158-2160)CGG>TGG	p.R720W	BNC2_uc011lmw.1_Missense_Mutation_p.R625W|BNC2_uc003zmm.2_Missense_Mutation_p.R678W|BNC2_uc003zmq.1_Missense_Mutation_p.R734W|BNC2_uc003zmr.1_Missense_Mutation_p.R757W|BNC2_uc003zmp.1_Missense_Mutation_p.R748W|BNC2_uc010mij.1_Missense_Mutation_p.R642W|BNC2_uc011lmv.1_Missense_Mutation_p.R546W|BNC2_uc003zmo.1_Missense_Mutation_p.R642W|BNC2_uc003zmj.2_Missense_Mutation_p.R485W|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.R485W|BNC2_uc003zmn.1_Missense_Mutation_p.R485W	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	720					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		TCATAGTCCCGCTCAGGTTCT	0.502													A	16436034	G	A	16436034	3	1	94	1	0	0	0	0	1	0	0	0	1475	1086	38	1	1149	1	BNC2	9	16436034	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	691574	16436034	124777397	1702	60835											
CNTLN	54875	broad.mit.edu	37	chr9	17464498	17464498	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttttttttttcaaggatAtctcgaatggagagggatat	9	5	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:17464498A>G	uc003zmz.2	+	21	3431	c.3405A>G	c.(3403-3405)ATA>ATG	p.I1135M	CNTLN_uc003zmy.2_Missense_Mutation_p.I1136M|CNTLN_uc010mio.2_Missense_Mutation_p.I815M	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1136	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		TTTCAAGGATATCTCGAATGG	0.303													G	17464498	A	G	17464498	3	3	94	1	0	0	0	0	1	0	0	0	3639	439	16	3	3520	3	CNTLN	9	17464498	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1028464	17464498	123748933	1703	60836											
CNTLN	54875	broad.mit.edu	37	chr9	17484353	17484353	+	Frame_Shift_Del	DEL	A	A	-													ggcgacaaataagagagcttAaaaaaatgaagaaaaacagg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:17484353delA	uc003zmz.2	+	24	3939	c.3913delA	c.(3913-3915)AAAfs	p.K1305fs	CNTLN_uc003zmy.2_Frame_Shift_Del_p.K1306fs|CNTLN_uc010mio.2_Frame_Shift_Del_p.K985fs	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1306	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGAGAGCTTAAAAAAATGAA	0.398													-	17484353	A	-	17484353	7	5	94	1	0	1	0	1	0	0	0	0	3639	363	13	0	4040	0	CNTLN	9	17484353	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	19855	17484353	123729078	1704	60837											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18721613	18721613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctgtgcgtgaccagccgCcggcccccacagctcctgaa	10	18	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:18721613C>T	uc003zne.3	+	15	2083	c.1956C>T	c.(1954-1956)CGC>CGT	p.R652R		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	652	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		TGACCAGCCGCCGGCCCCCAC	0.602													T	18721613	C	T	18721613	2	4	94	1	0	0	0	0	0	0	0	1	274	726	26	2		2	ADAMTSL1	9	18721613	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1237260	18721613	122491818	1705	60838											
PLIN2	123	broad.mit.edu	37	chr9	19116264	19116264	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttaatgagttttatgctcAgatcgctgggtctcctggct	11	8	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:19116264A>G	uc003zno.2	-	8	1475	c.1296T>C	c.(1294-1296)TCT>TCC	p.S432S	PLIN2_uc011lna.1_Silent_p.S404S	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	adipose differentiation-related protein	432					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				ovary(2)	2						TTTTATGCTCAGATCGCTGGG	0.488													G	19116264	A	G	19116264	2	3	94	1	0	0	0	0	0	0	0	1	12090	175	7	3		3	PLIN2	9	19116264	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	394651	19116264	122097167	1706	60839											
KIAA1797	54914	broad.mit.edu	37	chr9	20990121	20990121	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatttctattttcatcgtaGgctttggacttcttcttgct	6	9	5	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:20990121G>T	uc003zog.1	+	44	5368	c.5005_splice	c.e44-1	p.A1669_splice	KIAA1797_uc003zoh.1_Splice_Site_p.A1105_splice	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914							integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		TTTCATCGTAGGCTTTGGACT	0.468													T	20990121	G	T	20990121	5	4	94	1	0	0	0	0	0	0	1	0	8258	1014	35	5	5166	5	KIAA1797	9	20990121	Splice_Site	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1873857	20990121	120223310	1707	60840											
IFNW1	3467	broad.mit.edu	37	chr9	21141078	21141078	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttccattctgacaacttcCcaggcacagtcgctgtattt	6	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:21141078C>T	uc003zol.1	-	1	1067	c.492G>A	c.(490-492)TGG>TGA	p.W164*		NM_002177	NP_002168	P05000	IFNW1_HUMAN	interferon, omega 1 precursor	164					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding				0				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TGACAACTTCCCAGGCACAGT	0.448													T	21141078	C	T	21141078	4	4	94	1	0	0	0	0	0	1	0	0	7552	624	22	4	99	4	IFNW1	9	21141078	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	150957	21141078	120072353	1708	60841											
CDKN2A	1029	broad.mit.edu	37	chr9	21970981	21970981	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgcgcaggtaccgtgcgAcatcgcgatggcccagctcc	13	17	0	0	rs104894098		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:21970981A>T	uc003zpk.2	-	2	589	c.377T>A	c.(376-378)GTC>GAC	p.V126D	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	126	ANK 4.		V -> D (in CMM2; impairs the function).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(13)|p.V126V(2)|p.V126F(2)|p.A118fs*10(1)|p.V126I(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTACCGTGCGACATCGCGATG	0.701		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			T	21970981	A	T	21970981	3	4	94	1	0	0	0	0	1	0	0	0	3161	275	10	5	101	5	CDKN2A	9	21970981	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	829903	21970981	119242450	1709	60842											
LRRC19	64922	broad.mit.edu	37	chr9	26998170	26998170	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttataactgagatcaagtaTagtaacatctttcttgatat	6	5	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:26998170T>A	uc003zqh.2	-	3	262	c.151A>T	c.(151-153)ATA>TTA	p.I51L	IFT74_uc010mja.2_Intron|IFT74_uc010mjb.2_Intron|IFT74_uc003zqf.3_Intron|IFT74_uc003zqg.3_Intron	NM_022901	NP_075052	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19 precursor	51	Extracellular (Potential).|LRR 1.					integral to membrane					0		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		AGATCAAGTATAGTAACATCT	0.299													A	26998170	T	A	26998170	3	1	94	1	0	0	0	0	1	0	0	0	8975	1406	49	5	973	5	LRRC19	9	26998170	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	5027189	26998170	114215261	1710	60843											
AQP3	360	broad.mit.edu	37	chr9	33442199	33442199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgggcacccaccaccaatGctggccggtcctggggggac	15	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:33442199G>A	uc003zsx.2	-	6	783	c.721C>T	c.(721-723)CAT>TAT	p.H241Y	SUGT1P1_uc010mjq.1_Intron|AQP3_uc003zsv.1_3'UTR|AQP3_uc003zsw.2_Missense_Mutation_p.H85Y|AQP3_uc010mju.2_Missense_Mutation_p.A168V	NM_004925	NP_004916	Q92482	AQP3_HUMAN	aquaporin 3	241	Extracellular (Potential).				excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity				0			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		CACCACCAATGCTGGCCGGTC	0.662													A	33442199	G	A	33442199	3	1	94	1	0	0	0	0	1	0	0	0	827	1319	46	2	161	2	AQP3	9	33442199	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	6444029	33442199	107771232	1711	60844											
DCAF12	25853	broad.mit.edu	37	chr9	34098434	34098434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgcatacacagggaccCgtgacacattgtgtctcgca	11	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:34098434C>T	uc003ztt.2	-	5	1025	c.683G>A	c.(682-684)CGG>CAG	p.R228Q		NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	228						centrosome|CUL4 RING ubiquitin ligase complex					0						CACAGGGACCCGTGACACATT	0.517													T	34098434	C	T	34098434	3	4	94	1	0	0	0	0	1	0	0	0	4263	652	23	1	698	1	DCAF12	9	34098434	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	656235	34098434	107114997	1712	60845											
DNAI1	27019	broad.mit.edu	37	chr9	34500820	34500820	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacaaagccaagcgcctgtcCgtcactgccctctgctggta	10	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:34500820C>A	uc003zum.2	+	11	1195	c.1002C>A	c.(1000-1002)TCC>TCA	p.S334S		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	334					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity				0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AGCGCCTGTCCGTCACTGCCC	0.532									Kartagener_syndrome		OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	34500820	C	A	34500820	2	1	94	1	0	0	0	0	0	0	0	1	4609	639	23	5		5	DNAI1	9	34500820	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	402386	34500820	106712611	1713	60846											
CNTFR	1271	broad.mit.edu	37	chr9	34568917	34568917	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggactgtgtctctgggcGtagacaactgcggcggcggc	17	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:34568917G>A	uc003zup.1	-	3	344	c.63C>T	c.(61-63)TAC>TAT	p.Y21Y	CNTFR_uc003zuq.1_Silent_p.Y21Y|LOC415056_uc003zut.2_Intron|LOC415056_uc003zur.2_Intron|LOC415056_uc003zus.2_Intron	NM_147164	NP_671693	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	21					nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			ovary(3)|central_nervous_system(1)|skin(1)	5	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		GTCTCTGGGCGTAGACAACTG	0.657													A	34568917	G	A	34568917	2	1	94	1	0	0	0	0	0	0	0	1	3638	1140	40	1		1	CNTFR	9	34568917	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	68097	34568917	106644514	1714	60847											
PIGO	84720	broad.mit.edu	37	chr9	35091415	35091416	+	Frame_Shift_Del	DEL	CA	CA	-													ctccccaactgataagcagcCacagtcaggggaccctgaga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:35091415_35091416delCA	uc003zwd.2	-	7	2864_2865	c.2468_2469delTG	c.(2467-2469)GTGfs	p.V823fs	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Frame_Shift_Del_p.V386fs	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	823					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GATAAGCAGCCACAGTCAGGGG	0.564													-	35091416	CA	-	35091415	7	5	94	1	0	1	0	1	0	0	0	0	11894	581	21	0	820	0	PIGO	9	35091415	Frame_Shift_Del	DEL	CA	TCGA-BR-8487-01A-11D-2394-08	522498	35091415	106122016	1715	60848											
PIGO	84720	broad.mit.edu	37	chr9	35091771	35091771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattaggggcagtccccagcGcacaaagagcatgggtggct	14	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:35091771G>A	uc003zwd.2	-	7	2509	c.2113C>T	c.(2113-2115)CGC>TGC	p.R705C	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Missense_Mutation_p.R268C	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	705	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGTCCCCAGCGCACAAAGAGC	0.647													A	35091771	G	A	35091771	3	1	94	1	0	0	0	0	1	0	0	0	11894	1087	38	1	1176	1	PIGO	9	35091771	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	356	35091771	106121660	1716	60849											
KIAA1539	80256	broad.mit.edu	37	chr9	35107521	35107521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcagagctgacatctgGggcttctccagcaggaagca	11	12	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:35107521G>A	uc003zwl.2	-	3	1076	c.751C>T	c.(751-753)CCA>TCA	p.P251S	KIAA1539_uc003zwm.2_Missense_Mutation_p.P251S|KIAA1539_uc003zwn.2_5'UTR|KIAA1539_uc003zwo.2_Missense_Mutation_p.P251S|KIAA1539_uc003zwp.1_Missense_Mutation_p.P251S|KIAA1539_uc010mkk.1_RNA	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	251						nucleus				ovary(2)	2	all_epithelial(49;0.217)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTGACATCTGGGGCTTCTCCA	0.672													A	35107521	G	A	35107521	3	1	94	1	0	0	0	0	1	0	0	0	8242	1232	43	4	893	4	KIAA1539	9	35107521	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	15750	35107521	106105910	1717	60850											
KIAA1539	80256	broad.mit.edu	37	chr9	35108148	35108148	+	Frame_Shift_Del	DEL	C	C	-													gtagaccccgggggatgtcgCcccccctgctgggctgtagc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:35108148delC	uc003zwl.2	-	3	449	c.124delG	c.(124-126)GCGfs	p.A42fs	KIAA1539_uc003zwm.2_Frame_Shift_Del_p.A42fs|KIAA1539_uc003zwn.2_5'UTR|KIAA1539_uc003zwo.2_Frame_Shift_Del_p.A42fs|KIAA1539_uc003zwp.1_Frame_Shift_Del_p.A42fs|KIAA1539_uc010mkk.1_RNA	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	42						nucleus				ovary(2)	2	all_epithelial(49;0.217)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGGGATGTCGCCCCCCCTGCT	0.657													-	35108148	C	-	35108148	7	5	94	1	0	1	0	1	0	0	0	0	8242	739	26	0	1520	0	KIAA1539	9	35108148	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	627	35108148	106105283	1718	60851											
RUSC2	9853	broad.mit.edu	37	chr9	35546612	35546612	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagacaggcagtgctgtggaGgggcaggtggaggtggtggg	23	5	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:35546612G>T	uc003zww.2	+	2	349	c.94G>T	c.(94-96)GGG>TGG	p.G32W	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.G32W	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	32						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GTGCTGTGGAGGGGCAGGTGG	0.587													T	35546612	G	T	35546612	3	4	94	1	0	0	0	0	1	0	0	0	13751	1000	35	5	96	5	RUSC2	9	35546612	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	438464	35546612	105666819	1719	60852											
FAM166B	730112	broad.mit.edu	37	chr9	35562663	35562663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgacatgaagaacttcCgagggtccctgtcatccatg	9	13	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:35562663C>T	uc010mkr.2	-	4	598	c.527G>A	c.(526-528)CGG>CAG	p.R176Q	FAM166B_uc011lov.1_Missense_Mutation_p.G187R|FAM166B_uc011low.1_Missense_Mutation_p.R176Q|FAM166B_uc003zwy.2_Missense_Mutation_p.R176Q	NM_001164310	NP_001157782	A8MTA8	F166B_HUMAN	hypothetical protein LOC730112 isoform 1	176											0						GAAGAACTTCCGAGGGTCCCT	0.587													T	35562663	C	T	35562663	3	4	94	1	0	0	0	0	1	0	0	0	5482	652	23	1	131	1	FAM166B	9	35562663	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	16051	35562663	105650768	1720	60853											
TESK1	7016	broad.mit.edu	37	chr9	35606843	35606844	+	Frame_Shift_Ins	INS	-	-	G													tatgcaccagtatatgaatgINSgggggacattggaacagctg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:35606842_35606843T>TG	uc003zxa.3	+	3	735_736	c.399_400T>TG	c.(397-402)aatgggfs	p.N133fs	TESK1_uc010mks.3_Frame_Shift_Ins_p.M1fs|MIR4667_uc022bgk.1_5'Flank	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Homo sapiens testis-specific kinase 1 (TESK1), mRNA.	133	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G134G(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			aGTATATGAATGGGGGGACATT	0.579													G	35606844	-	G	35606843	7	5	94	1	0	1	1	0	0	0	0	0	15764	1348	47	0	414	0	TESK1	9	35606843	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	44180	35606843	105606588	1721	60854											
CA9	768	broad.mit.edu	37	chr9	35676366	35676366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcccgggaggcctggccGtgttggccgcctttctggag	18	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:35676366G>A	uc003zxo.3	+	5	862	c.820G>A	c.(820-822)GTG>ATG	p.V274M	C9orf100_uc003zxl.2_5'Flank|CA9_uc003zxp.3_Missense_Mutation_p.V274M	NM_001216	NP_001207	Q16790	CAH9_HUMAN	carbonic anhydrase IX precursor	274	Extracellular.|Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			ovary(4)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGCCTGGCCGTGTTGGCCGC	0.637													A	35676366	G	A	35676366	3	1	94	1	0	0	0	0	1	0	0	0	2524	1145	40	1	838	1	CA9	9	35676366	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	69523	35676366	105537065	1722	60855											
TMEM8B	51754	broad.mit.edu	37	chr9	35846850	35846850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaccgacagtgcagatgCgctcacctatggattccagc	10	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:35846850C>T	uc003zym.2	+	11	1692	c.677C>T	c.(676-678)GCG>GTG	p.A226V	TMEM8B_uc003zyk.2_Missense_Mutation_p.A226V|TMEM8B_uc003zyl.2_Missense_Mutation_p.A393V|TMEM8B_uc003zyn.2_Silent_p.C121C|TMEM8B_uc003zyo.2_Missense_Mutation_p.A226V	NM_001042589	NP_001036054	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B isoform a	226	Extracellular (Potential).				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			ovary(1)	1						AGTGCAGATGCGCTCACCTAT	0.597													T	35846850	C	T	35846850	3	4	94	1	0	0	0	0	1	0	0	0	16212	768	27	1	695	1	TMEM8B	9	35846850	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	170484	35846850	105366581	1723	60856											
GNE	10020	broad.mit.edu	37	chr9	36246457	36246457	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttaatgtcaaagtcatcttGttcaatcattcgatatgtat	6	6	5	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:36246457G>A	uc010mlh.2	-	3	402	c.187C>T	c.(187-189)CAA>TAA	p.Q63*	CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Nonsense_Mutation_p.Q63*|GNE_uc011lpl.1_Nonsense_Mutation_p.Q4*|GNE_uc010mli.2_Nonsense_Mutation_p.Q94*|GNE_uc010mlj.2_Nonsense_Mutation_p.Q58*	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	63	UDP-N-acetylglucosamine 2-epimerase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0			STAD - Stomach adenocarcinoma(86;0.228)			AAGTCATCTTGTTCAATCATT	0.433													A	36246457	G	A	36246457	4	1	94	1	0	0	0	0	0	1	0	0	6522	1386	48	4	2021	4	GNE	9	36246457	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	399607	36246457	104966974	1724	60857											
RNF38	152006	broad.mit.edu	37	chr9	36353240	36353240	+	Frame_Shift_Del	DEL	G	G	-													gagctgatggaggtaatgttGgggggtgggctgatggaggg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:36353239_36353239TG>T	uc003zzh.3	-	6	1190	c.999_999CA>A	c.(997-999)ccafs	p.P333fs	RNF38_uc003zzi.3_Frame_Shift_Del_p.P283fs|RNF38_uc003zzj.3_Frame_Shift_Del_p.P250fs|RNF38_uc003zzk.3_Frame_Shift_Del_p.P250fs|RNF38_uc003zzl.3_Frame_Shift_Del_p.P257fs|RNF38_uc003zzm.3_Frame_Shift_Del_p.P250fs	NM_022781	NP_919313	Q9H0F5	RNF38_HUMAN	Homo sapiens ring finger protein 38 (RNF38), transcript variant 1, mRNA.	333	Pro-rich.						zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GAGGTAATGTTGGGGGGTGGG	0.458													-	36353240	G	-	36353240	7	5	94	1	0	1	0	1	0	0	0	0	13490	1348	47	0	573	0	RNF38	9	36353240	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	106783	36353240	104860191	1725	60858											
ZBTB5	9925	broad.mit.edu	37	chr9	37442190	37442190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgggcagcgtccttgtcGttaagtaatgtttacatgcc	10	9	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:37442190G>A	uc003zzx.2	-	2	559	c.359C>T	c.(358-360)ACG>ATG	p.T120M		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CGTCCTTGTCGTTAAGTAATG	0.532													A	37442190	G	A	37442190	3	1	94	1	0	0	0	0	1	0	0	0	17548	1145	40	1	1678	1	ZBTB5	9	37442190	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1088950	37442190	103771241	1726	60859											
POLR1E	64425	broad.mit.edu	37	chr9	37503056	37503056	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaggatgatggagatagccAaagccatgaggctgaagatc	13	6	0	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:37503056A>G	uc003zzz.1	+	11	1591	c.1303A>G	c.(1303-1305)AAA>GAA	p.K435E	POLR1E_uc003zzy.1_Missense_Mutation_p.K373E|POLR1E_uc011lqk.1_Missense_Mutation_p.K302E|uc004aaa.2_5'Flank	NM_022490	NP_071935	Q9GZS1	RPA49_HUMAN	RNA polymerase I associated factor 53	435					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding				0				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		GGAGATAGCCAAAGCCATGAG	0.532													G	37503056	A	G	37503056	3	3	94	1	0	0	0	0	1	0	0	0	12213	131	5	3	1163	3	POLR1E	9	37503056	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	60866	37503056	103710375	1727	60860											
FBXO10	26267	broad.mit.edu	37	chr9	37521665	37521665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtctcccagaggatggCgtccccatcctcgctgaagt	10	15	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:37521665C>T	uc004aab.2	-	8	2150	c.2101G>A	c.(2101-2103)GCC>ACC	p.A701T	FBXO10_uc004aac.2_Missense_Mutation_p.A717T|FBXO10_uc004aad.2_Missense_Mutation_p.A251T	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	F-box protein 10	701						ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)		CAGAGGATGGCGTCCCCATCC	0.552													T	37521665	C	T	37521665	3	4	94	1	0	0	0	0	1	0	0	0	5726	768	27	1	785	1	FBXO10	9	37521665	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	18609	37521665	103691766	1728	60861											
ALDH1B1	219	broad.mit.edu	37	chr9	38396150	38396150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcctttccaagagtcttaCgccttggacttggatgaggt	11	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:38396150C>T	uc004aay.2	+	2	517	c.405C>T	c.(403-405)TAC>TAT	p.Y135Y		NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	135					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			skin(1)	1				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	AAGAGTCTTACGCCTTGGACT	0.562													T	38396150	C	T	38396150	2	4	94	1	0	0	0	0	0	0	0	1	493	547	19	1		1	ALDH1B1	9	38396150	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	874485	38396150	102817281	1729	60862											
TJP2	9414	broad.mit.edu	37	chr9	71854958	71854958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccagactccagacaaggtGtcaaaaccatgagacaaagg	9	11	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:71854958G>A	uc004ahe.2	+	17	2661	c.2461G>A	c.(2461-2463)GTC>ATC	p.V821I	TJP2_uc011lrs.1_Missense_Mutation_p.V798I|TJP2_uc011lrt.1_Missense_Mutation_p.V798I|TJP2_uc004ahd.2_Missense_Mutation_p.V821I|TJP2_uc004ahf.2_Missense_Mutation_p.V821I|TJP2_uc011lru.1_Missense_Mutation_p.V825I|TJP2_uc011lrv.1_Missense_Mutation_p.V843I	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	821	Guanylate kinase-like.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						CAGACAAGGTGTCAAAACCAT	0.418													A	71854958	G	A	71854958	3	1	94	1	0	0	0	0	1	0	0	0	15927	1377	48	4	2684	4	TJP2	9	71854958	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	33458808	71854958	69358473	1730	60863											
TJP2	9414	broad.mit.edu	37	chr9	71869217	71869217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgaggaggaggagtaccGccagcagctgtcagaacact	14	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:71869217G>A	uc004ahe.2	+	23	3700	c.3500G>A	c.(3499-3501)CGC>CAC	p.R1167H	TJP2_uc011lrs.1_Missense_Mutation_p.R997H|TJP2_uc004ahf.2_Missense_Mutation_p.R1020H|TJP2_uc011lru.1_Missense_Mutation_p.R1134H|TJP2_uc011lrv.1_Missense_Mutation_p.R1189H|TJP2_uc010mom.1_3'UTR	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	1167				EYR -> IRS (in Ref. 8; AAB41794).	cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						GAGGAGTACCGCCAGCAGCTG	0.547													A	71869217	G	A	71869217	3	1	94	1	0	0	0	0	1	0	0	0	15927	1087	38	1	3849	1	TJP2	9	71869217	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	14259	71869217	69344214	1731	60864											
TRPM3	80036	broad.mit.edu	37	chr9	73151350	73151350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgtgtcaatacagtctGtaatacttgtgtattctgct	7	8	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:73151350G>A	uc004aid.2	-	25	4887	c.4643C>T	c.(4642-4644)ACA>ATA	p.T1548I	TRPM3_uc004ahu.2_Missense_Mutation_p.T1390I|TRPM3_uc004ahv.2_Missense_Mutation_p.T1350I|TRPM3_uc004ahw.2_Missense_Mutation_p.T1420I|TRPM3_uc004ahx.2_Missense_Mutation_p.T1407I|TRPM3_uc004ahy.2_Missense_Mutation_p.T1410I|TRPM3_uc004ahz.2_Missense_Mutation_p.T1397I|TRPM3_uc004aia.2_Missense_Mutation_p.T1395I|TRPM3_uc004aib.2_Missense_Mutation_p.T1385I|TRPM3_uc004aic.2_Intron	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1573	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						AATACAGTCTGTAATACTTGT	0.463													A	73151350	G	A	73151350	3	1	94	1	0	0	0	0	1	0	0	0	16584	1377	48	4	484	4	TRPM3	9	73151350	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1282133	73151350	68062081	1732	60865											
TMEM2	23670	broad.mit.edu	37	chr9	74347430	74347430	+	Frame_Shift_Del	DEL	G	G	-													cacccatgtgcaggaactgaGgggtttctggttgatatgag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:74347430delG	uc011lsa.1	-	7	1940	c.1400delC	c.(1399-1401)CCTfs	p.P467fs	TMEM2_uc010mos.2_Frame_Shift_Del_p.P404fs|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	467						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CAGGAACTGAGGGGTTTCTGG	0.408													-	74347430	G	-	74347430	7	5	94	1	0	1	0	1	0	0	0	0	16118	1000	35	0	2823	0	TMEM2	9	74347430	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	1196080	74347430	66866001	1733	60866											
PRUNE2	158471	broad.mit.edu	37	chr9	79259732	79259732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgttctccaatgaccactGtcctccaaagccggttgtcc	7	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:79259732G>A	uc010mpk.2	-	12	8775	c.8651C>T	c.(8650-8652)ACA>ATA	p.T2884I	PRUNE2_uc011lsk.1_Missense_Mutation_p.T133I|PRUNE2_uc011lsl.1_Missense_Mutation_p.T148I|PRUNE2_uc011lsm.1_Missense_Mutation_p.T149I|PRUNE2_uc004akj.3_Missense_Mutation_p.T338I|PRUNE2_uc010mpl.1_Missense_Mutation_p.T338I	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	2884					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						AATGACCACTGTCCTCCAAAG	0.512													A	79259732	G	A	79259732	3	1	94	1	0	0	0	0	1	0	0	0	12641	1377	48	4	647	4	PRUNE2	9	79259732	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4912302	79259732	61953699	1734	60867											
TLE1	7088	broad.mit.edu	37	chr9	84208020	84208020	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgcagcccttcccgcctgTgtacacgtgtctcgtggggt	13	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:84208020T>C	uc004aly.2	-	15	1942	c.1501A>G	c.(1501-1503)ACA>GCA	p.T501A	TLE1_uc004alz.2_Missense_Mutation_p.T511A|TLE1_uc011lsr.1_Missense_Mutation_p.T486A|TLE1_uc004ama.1_Missense_Mutation_p.T500A	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	501	WD 1.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2						TTCCCGCCTGTGTACACGTGT	0.617													C	84208020	T	C	84208020	3	2	94	1	0	0	0	0	1	0	0	0	15935	1696	59	3	835	3	TLE1	9	84208020	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	4948288	84208020	57005411	1735	60868											
RASEF	158158	broad.mit.edu	37	chr9	85611951	85611951	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcatatctacccattctcgTatgttaagaaagcttttctc	4	10	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:85611951T>C	uc004amo.1	-	14	2157	c.1896A>G	c.(1894-1896)ATA>ATG	p.I632M		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	632					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						CCCATTCTCGTATGTTAAGAA	0.373													C	85611951	T	C	85611951	3	2	94	1	0	0	0	0	1	0	0	0	13068	1628	57	3	342	3	RASEF	9	85611951	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1403931	85611951	55601480	1736	60869											
GOLM1	51280	broad.mit.edu	37	chr9	88692475	88692475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctctgcagccgccctgCggaccctgccttccagctcc	8	21	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:88692475C>T	uc004aol.2	-	3	359	c.161G>A	c.(160-162)CGC>CAC	p.R54H	GOLM1_uc010mqd.1_RNA|GOLM1_uc004aom.2_Missense_Mutation_p.R54H	NM_016548	NP_057632	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	54	Potential.|Lumenal (Potential).					Golgi apparatus|integral to plasma membrane					0						AGCCGCCCTGCGGACCCTGCC	0.607													T	88692475	C	T	88692475	3	4	94	1	0	0	0	0	1	0	0	0	6567	768	27	1	1076	1	GOLM1	9	88692475	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3080524	88692475	52520956	1737	60870											
SEMA4D	10507	broad.mit.edu	37	chr9	92006274	92006274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagtagaccctgtcatcctCgccgtcggggctgtctgggc	14	13	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:92006274C>T	uc004aqo.1	-	11	1251	c.679G>A	c.(679-681)GAG>AAG	p.E227K	SEMA4D_uc011ltm.1_Missense_Mutation_p.E227K|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.E225K	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	227	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						CTGTCATCCTCGCCGTCGGGG	0.537													T	92006274	C	T	92006274	3	4	94	1	0	0	0	0	1	0	0	0	14034	893	31	1	2511	1	SEMA4D	9	92006274	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3313799	92006274	49207157	1738	60871											
ZNF169	169841	broad.mit.edu	37	chr9	97062526	97062526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaaagtcaagcctgttcaGccaccagaagcatcatgtgt	8	11	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:97062526G>A	uc004aum.1	+	5	791	c.686G>A	c.(685-687)AGC>AAC	p.S229N		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	229						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				AGCCTGTTCAGCCACCAGAAG	0.507													A	97062526	G	A	97062526	3	1	94	1	0	0	0	0	1	0	0	0	17739	971	34	2	700	2	ZNF169	9	97062526	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	5056252	97062526	44150905	1739	60872											
FBP2	8789	broad.mit.edu	37	chr9	97346939	97346939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagtgggtcaaagcagaCcacgtatttcccctaaatca	7	12	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:97346939C>T	uc004auv.2	-	3	413	c.346G>A	c.(346-348)GTC>ATC	p.V116I		NM_003837	NP_003828	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	116					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding				0		Acute lymphoblastic leukemia(62;0.136)				TCAAAGCAGACCACGTATTTC	0.488													T	97346939	C	T	97346939	3	4	94	1	0	0	0	0	1	0	0	0	5706	507	18	4	693	4	FBP2	9	97346939	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	284413	97346939	43866492	1740	60873											
PTCH1	5727	broad.mit.edu	37	chr9	98231260	98231260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggctcagcggtggtgtagtAcacgtgcgtgtgggggtcgt	19	8	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:98231260A>G	uc004avk.3	-	14	2211	c.2023T>C	c.(2023-2025)TAC>CAC	p.Y675H	PTCH1_uc010mro.2_Missense_Mutation_p.Y524H|PTCH1_uc010mrp.2_Missense_Mutation_p.Y524H|PTCH1_uc010mrq.2_Missense_Mutation_p.Y524H|PTCH1_uc004avl.3_Missense_Mutation_p.Y524H|PTCH1_uc010mrr.2_Missense_Mutation_p.Y609H|PTCH1_uc004avm.3_Missense_Mutation_p.Y674H|PTCH1_uc010mrs.1_Missense_Mutation_p.Y343H	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	675	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GTGGTGTAGTACACGTGCGTG	0.627									Basal_Cell_Nevus_syndrome				G	98231260	A	G	98231260	3	3	94	1	0	0	0	0	1	0	0	0	12730	391	14	3	2360	3	PTCH1	9	98231260	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	884321	98231260	42982171	1741	60874											
TDRD7	23424	broad.mit.edu	37	chr9	100240782	100240782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggactctggcactgtgaCatctgtaaaagtgtcagagc	11	10	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:100240782C>T	uc004axj.2	+	13	2453	c.2228C>T	c.(2227-2229)ACA>ATA	p.T743I	TDRD7_uc011lux.1_Missense_Mutation_p.T669I|TDRD7_uc010msp.1_5'UTR|TDRD7_uc011luy.1_Missense_Mutation_p.T63I	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	743	Tudor 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)				GGCACTGTGACATCTGTAAAA	0.433													T	100240782	C	T	100240782	3	4	94	1	0	0	0	0	1	0	0	0	15732	478	17	4	2274	4	TDRD7	9	100240782	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2009522	100240782	40972649	1742	60875											
XPA	7507	broad.mit.edu	37	chr9	100456035	100456035	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggggctgcttttacattaGccatgcctacaaaagtaagt	9	8	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:100456035G>T	uc004axr.3	-	2	296	c.179C>A	c.(178-180)GCT>GAT	p.A60D	XPA_uc004axs.3_RNA	NM_000380	NP_000371	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	60	Interaction with CEP164 and required for UV resistance.				nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)	1		Acute lymphoblastic leukemia(62;0.158)				TTTTACATTAGCCATGCCTAC	0.338			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		NER	Xeroderma_Pigmentosum				T	100456035	G	T	100456035	3	4	94	1	0	0	0	0	1	0	0	0	17437	971	34	5	662	5	XPA	9	100456035	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	215253	100456035	40757396	1743	60876											
FOXE1	2304	broad.mit.edu	37	chr9	100617187	100617187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacgggcgcacgtcgcccGgccagttcggagcgctggga	16	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:100617187G>A	uc004axu.2	+	1	1651	c.991G>A	c.(991-993)GGC>AGC	p.G331S		NM_004473	NP_004464	O00358	FOXE1_HUMAN	forkhead box E1	331					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		Acute lymphoblastic leukemia(62;0.158)				CACGTCGCCCGGCCAGTTCGG	0.736													A	100617187	G	A	100617187	3	1	94	1	0	0	0	0	1	0	0	0	6003	1116	39	1	993	1	FOXE1	9	100617187	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	161152	100617187	40596244	1744	60877											
TMEFF1	8577	broad.mit.edu	37	chr9	103204337	103204337	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgtaagaaaagtgatgcGcgaactattgcccttaagca	10	7	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:103204337G>A	uc004bay.1	+	1	150	c.117G>A	c.(115-117)GCG>GCA	p.A39A	C9orf30_uc004baw.2_Silent_p.A39A|C9orf30_uc004bax.2_RNA	NM_003692	NP_003683	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two	Error:Variant_position_missing_in_Q8IYR6_after_alignment					multicellular organismal development	integral to membrane|plasma membrane					0		Acute lymphoblastic leukemia(62;0.0452)				AAAGTGATGCGCGAACTATTG	0.463													A	103204337	G	A	103204337	2	1	94	1	0	0	0	0	0	0	0	1	16010	1074	38	1		1	TMEFF1	9	103204337	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2587150	103204337	38009094	1745	60878											
RNF20	56254	broad.mit.edu	37	chr9	104309176	104309176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtccatgattgatgacctGcagtgggatattgacaaaat	11	6	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:104309176G>A	uc004bbn.2	+	7	912	c.822G>A	c.(820-822)CTG>CTA	p.L274L		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	274	Potential.				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TTGATGACCTGCAGTGGGATA	0.468													A	104309176	G	A	104309176	2	1	94	1	0	0	0	0	0	0	0	1	13473	1306	46	2		2	RNF20	9	104309176	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1104839	104309176	36904255	1746	60879											
ABCA1	19	broad.mit.edu	37	chr9	107588115	107588115	+	Frame_Shift_Del	DEL	A	A	-													actccaatgccctgctcctcAaaaagggcaaagtactcaca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:107588114_107588114CA>C	uc004bcl.3	-	16	2796	c.2392_2392TG>G	c.(2392-2394)gagfs	p.E798fs		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	798					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCCTGCTCCTCAAAAAGGGCA	0.507													-	107588115	A	-	107588115	7	5	94	1	0	1	0	1	0	0	0	0	28	127	5	0	4530	0	ABCA1	9	107588115	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	3278939	107588115	33625316	1747	60880											
ABCA1	19	broad.mit.edu	37	chr9	107602587	107602587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtcatagaaggtttcagCatcttcctcagtgccattgc	9	10	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:107602587C>T	uc004bcl.2	-	9	1340	c.1027G>A	c.(1027-1029)GCT>ACT	p.A343T		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	343	Extracellular.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAGGTTTCAGCATCTTCCTCA	0.547													T	107602587	C	T	107602587	3	4	94	1	0	0	0	0	1	0	0	0	28	710	25	2	5926	2	ABCA1	9	107602587	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	14472	107602587	33610844	1748	60881											
ZNF462	58499	broad.mit.edu	37	chr9	109689017	109689017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaatgttagaagcctgatgCcacattaccaaagaatgcat	8	9	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:109689017C>T	uc004bcz.2	+	3	3113	c.2824C>T	c.(2824-2826)CCA>TCA	p.P942S	ZNF462_uc010mto.2_Missense_Mutation_p.P790S|ZNF462_uc004bda.2_Missense_Mutation_p.P790S	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	942	C2H2-type 9.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						AAGCCTGATGCCACATTACCA	0.478													T	109689017	C	T	109689017	3	4	94	1	0	0	0	0	1	0	0	0	17923	739	26	2	2830	2	ZNF462	9	109689017	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2086430	109689017	31524414	1749	60882											
ZNF462	58499	broad.mit.edu	37	chr9	109690913	109690913	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggatcttcaagcaagggTatggcgcctaccggtgcaaa	13	10	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:109690913T>C	uc004bcz.2	+	3	5009	c.4720T>C	c.(4720-4722)TAT>CAT	p.Y1574H	ZNF462_uc010mto.2_Missense_Mutation_p.Y1422H|ZNF462_uc004bda.2_Missense_Mutation_p.Y1422H	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1574					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						CAAGCAAGGGTATGGCGCCTA	0.498													C	109690913	T	C	109690913	3	2	94	1	0	0	0	0	1	0	0	0	17923	1638	57	3	4726	3	ZNF462	9	109690913	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1896	109690913	31522518	1750	60883											
ACTL7A	10881	broad.mit.edu	37	chr9	111625537	111625537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaggagattcagctgtGccaggaacggttcctctgct	14	9	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:111625537G>A	uc004bdj.1	+	1	935	c.935G>A	c.(934-936)TGC>TAC	p.C312Y		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	312						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0						ATTCAGCTGTGCCAGGAACGG	0.552													A	111625537	G	A	111625537	3	1	94	1	0	0	0	0	1	0	0	0	200	1319	46	2	937	2	ACTL7A	9	111625537	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1934624	111625537	29587894	1751	60884											
IKBKAP	8518	broad.mit.edu	37	chr9	111673454	111673454	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggaagactgtcaccaacAccctgtctgcagtgaaaaag	10	12	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:111673454A>G	uc004bdm.3	-	12	1716	c.1196T>C	c.(1195-1197)GTG>GCG	p.V399A	IKBKAP_uc004bdl.2_Missense_Mutation_p.V50A|IKBKAP_uc011lwc.1_Missense_Mutation_p.V285A|IKBKAP_uc010mtq.2_Missense_Mutation_p.V50A	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	399					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						TGTCACCAACACCCTGTCTGC	0.448													G	111673454	A	G	111673454	3	3	94	1	0	0	0	0	1	0	0	0	7610	159	6	3	2906	3	IKBKAP	9	111673454	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	47917	111673454	29539977	1752	60885											
IKBKAP	8518	broad.mit.edu	37	chr9	111674645	111674645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggtaatgccagccctgaCagagaacatgcagccggtat	12	11	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:111674645C>T	uc004bdm.3	-	11	1608	c.1088G>A	c.(1087-1089)TGT>TAT	p.C363Y	IKBKAP_uc004bdl.2_Missense_Mutation_p.C14Y|IKBKAP_uc011lwc.1_Missense_Mutation_p.C249Y|IKBKAP_uc010mtq.2_Missense_Mutation_p.C14Y	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	363					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						CCAGCCCTGACAGAGAACATG	0.512													T	111674645	C	T	111674645	3	4	94	1	0	0	0	0	1	0	0	0	7610	478	17	4	3018	4	IKBKAP	9	111674645	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1191	111674645	29538786	1753	60886											
EPB41L4B	54566	broad.mit.edu	37	chr9	111970203	111970203	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgtatgcattctgcgcaCctggatgttcactcgggaag	12	9	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:111970203C>T	uc004bdz.1	-	18	2173	c.1878_splice	c.e18+1	p.Q626_splice		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B							cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						ATTCTGCGCACCTGGATGTTC	0.438													T	111970203	C	T	111970203	5	4	94	1	0	0	0	0	0	0	1	0	5156	521	18	4	859	4	EPB41L4B	9	111970203	Splice_Site	SNP	C	TCGA-BR-8487-01A-11D-2394-08	295558	111970203	29243228	1754	60887											
SVEP1	79987	broad.mit.edu	37	chr9	113217886	113217886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctgtgtaacctgatggGcactcacaaatgaattcccc	7	12	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:113217886G>A	uc010mtz.2	-	22	4108	c.3771C>T	c.(3769-3771)TGC>TGT	p.C1257C	SVEP1_uc010mua.1_Silent_p.C1257C	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1257	EGF-like 2; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						AACCTGATGGGCACTCACAAA	0.403													A	113217886	G	A	113217886	2	1	94	1	0	0	0	0	0	0	0	1	15417	1195	42	2		2	SVEP1	9	113217886	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1247683	113217886	27995545	1755	60888											
OR2K2	26248	broad.mit.edu	37	chr9	114089909	114089909	+	Frame_Shift_Del	DEL	T	T	-													caacgagatgattttgtctaTtttttgtgcatttgatgaag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:114089908_114089908AT>A	uc011lwp.2	-	0	806	c.806_806AT>T	c.(805-807)atafs	p.I269fs		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GATTTTGTCTATTTTTTGTGC	0.393													-	114089909	T	-	114089909	7	5	94	1	0	1	0	1	0	0	0	0	11005	1493	52	0	148	0	OR2K2	9	114089909	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	872023	114089909	27123522	1756	60889											
KIAA0368	23392	broad.mit.edu	37	chr9	114131334	114131334	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttgggtctccgcgtttcgCggccaggctttgcccaggct	14	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:114131334C>T	uc004bfe.1	-	47	5628	c.5628G>A	c.(5626-5628)CCG>CCA	p.P1876P		NM_001080398	NP_001073867			KIAA0368 protein												0						CCGCGTTTCGCGGCCAGGCTT	0.473													T	114131334	C	T	114131334	2	4	94	1	0	0	0	0	0	0	0	1	8171	755	27	1		1	KIAA0368	9	114131334	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	41425	114131334	27082097	1757	60890											
KIAA0368	23392	broad.mit.edu	37	chr9	114145514	114145514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggctcgaacttccgtcacGgtgctcatcattcctttgtc	9	13	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:114145514G>A	uc004bfe.1	-	36	4314	c.4314C>T	c.(4312-4314)ACC>ACT	p.T1438T		NM_001080398	NP_001073867			KIAA0368 protein												0						CTTCCGTCACGGTGCTCATCA	0.483													A	114145514	G	A	114145514	2	1	94	1	0	0	0	0	0	0	0	1	8171	1103	39	1		1	KIAA0368	9	114145514	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	14180	114145514	27067917	1758	60891											
KIAA0368	23392	broad.mit.edu	37	chr9	114246712	114246712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggaggaagccccgccctgCgcctcccgccgaacttctcg	12	19	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:114246712C>T	uc004bfe.1	-	2	201	c.201G>A	c.(199-201)GCG>GCA	p.A67A	KIAA0368_uc010muc.1_5'Flank	NM_001080398	NP_001073867			KIAA0368 protein												0						CCCCGCCCTGCGCCTCCCGCC	0.701													T	114246712	C	T	114246712	2	4	94	1	0	0	0	0	0	0	0	1	8171	755	27	1		1	KIAA0368	9	114246712	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	101198	114246712	26966719	1759	60892											
ZNF618	114991	broad.mit.edu	37	chr9	116750619	116750619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagcgcttgaagcgcagCcagaagagcaccaaggtgga	16	9	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:116750619C>T	uc004bid.2	+	3	195	c.96C>T	c.(94-96)AGC>AGT	p.S32S	ZNF618_uc004bib.1_Silent_p.S32S|ZNF618_uc004bic.2_Silent_p.S32S|ZNF618_uc011lxi.1_Silent_p.S32S|ZNF618_uc011lxj.1_Silent_p.S32S	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGAAGCGCAGCCAGAAGAGCA	0.597													T	116750619	C	T	116750619	2	4	94	1	0	0	0	0	0	0	0	1	18039	738	26	2		2	ZNF618	9	116750619	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2503907	116750619	24462812	1760	60893											
ZNF618	114991	broad.mit.edu	37	chr9	116811006	116811006	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcgcagagcggctgttgaGggtcatgtgtgccgacctgg	16	10	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:116811006G>T	uc004bid.2	+	15	1523	c.1424G>T	c.(1423-1425)AGG>ATG	p.R475M	ZNF618_uc004bic.2_Missense_Mutation_p.R382M|ZNF618_uc011lxi.1_Missense_Mutation_p.R442M|ZNF618_uc011lxj.1_Missense_Mutation_p.R443M|ZNF618_uc010mvb.2_Missense_Mutation_p.R65M	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CGGCTGTTGAGGGTCATGTGT	0.582													T	116811006	G	T	116811006	3	4	94	1	0	0	0	0	1	0	0	0	18039	1000	35	5	1199	5	ZNF618	9	116811006	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	60387	116811006	24402425	1761	60894											
COL27A1	85301	broad.mit.edu	37	chr9	117050991	117050991	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcattcagggccctgtgGgtgatcgaggagaccgcggg	17	9	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:117050991G>T	uc011lxl.1	+	43	4054	c.4054G>T	c.(4054-4056)GGT>TGT	p.G1352C	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	1352	Collagen-like 12.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						GGGCCCTGTGGGTGATCGAGG	0.627													T	117050991	G	T	117050991	3	4	94	1	0	0	0	0	1	0	0	0	3685	1232	43	5	4224	5	COL27A1	9	117050991	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	239985	117050991	24162440	1762	60895											
TNC	3371	broad.mit.edu	37	chr9	117852871	117852871	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggagacagcagcctgctcCtgcagtacattgctccctca	9	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:117852871C>A	uc004bjj.3	-	2	789	c.427G>T	c.(427-429)GGA>TGA	p.G143*	TNC_uc010mvf.2_Nonsense_Mutation_p.G143*	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	143	Potential.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CAGCCTGCTCCTGCAGTACAT	0.592													A	117852871	C	A	117852871	4	1	94	1	0	0	0	0	0	1	0	0	16267	690	24	5	6286	5	TNC	9	117852871	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	801880	117852871	23360560	1763	60896											
PAPPA	5069	broad.mit.edu	37	chr9	118950086	118950086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggtggtgcgctaccgcGtggtcaacctctatgaagat	12	11	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:118950086G>A	uc004bjn.2	+	2	1450	c.1069G>A	c.(1069-1071)GTG>ATG	p.V357M	PAPPA_uc011lxp.1_Missense_Mutation_p.V150M|PAPPA_uc011lxq.1_Missense_Mutation_p.V150M	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	357	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						GCGCTACCGCGTGGTCAACCT	0.552													A	118950086	G	A	118950086	3	1	94	1	0	0	0	0	1	0	0	0	11432	1145	40	1	1075	1	PAPPA	9	118950086	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1097215	118950086	22263345	1764	60897											
ASTN2	23245	broad.mit.edu	37	chr9	119188190	119188190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaccatcttctcctcacaCgtgattttggtgtccttgag	8	12	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:119188190C>T	uc004bjs.1	-	23	4061	c.3960G>A	c.(3958-3960)ACG>ACA	p.T1320T	ASTN2_uc004bjr.1_Silent_p.T1316T|ASTN2_uc004bjt.1_Silent_p.T1269T|ASTN2_uc004bjp.1_Silent_p.T413T|ASTN2_uc004bjq.1_Silent_p.T372T|ASTN2_uc011lxr.1_Silent_p.T372T|ASTN2_uc011lxs.1_Silent_p.T372T|ASTN2_uc011lxt.1_Silent_p.T372T|ASTN2_uc004bjo.1_Silent_p.T101T	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	1320	Extracellular (Potential).			T -> M (in Ref. 3; AAH29272).		integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						TCTCCTCACACGTGATTTTGG	0.582													T	119188190	C	T	119188190	2	4	94	1	0	0	0	0	0	0	0	1	1065	550	19	1		1	ASTN2	9	119188190	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	238104	119188190	22025241	1765	60898											
ASTN2	23245	broad.mit.edu	37	chr9	119495717	119495717	+	Frame_Shift_Del	DEL	C	C	-													tggaaggggctcggagaggaCcccccggcactgctcctcca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:119495716_119495716AC>A	uc004bjt.2	-	12	2431	c.2330_2330GT>T	c.(2329-2331)gtcfs	p.V777fs	ASTN2_uc022bml.1_Frame_Shift_Del_p.V473fs|ASTN2_uc022bmm.1_Frame_Shift_Del_p.V477fs	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	828						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTCGGAGAGGACCCCCCGGCA	0.612													-	119495717	C	-	119495717	7	5	94	1	0	1	0	1	0	0	0	0	1065	507	18	0	1809	0	ASTN2	9	119495717	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	307527	119495717	21717714	1766	60899											
ASTN2	23245	broad.mit.edu	37	chr9	119903695	119903695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgatgggcgtgttagcgcGgaaactctccttgaacttct	11	11	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:119903695G>A	uc004bjs.1	-	4	1179	c.1078C>T	c.(1078-1080)CGC>TGC	p.R360C	ASTN2_uc004bjr.1_Missense_Mutation_p.R360C|ASTN2_uc004bjt.1_Intron	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	360	Cytoplasmic (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						GTGTTAGCGCGGAAACTCTCC	0.592													A	119903695	G	A	119903695	3	1	94	1	0	0	0	0	1	0	0	0	1065	1131	39	1		1	ASTN2	9	119903695	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	407978	119903695	21309736	1767	60900											
ASTN2	23245	broad.mit.edu	37	chr9	120053672	120053672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggctcctggagagtggggGcggtggcttgggccagctgc	21	9	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:120053672G>A	uc004bjs.1	-	2	664	c.563C>T	c.(562-564)GCC>GTC	p.A188V	ASTN2_uc004bjr.1_Missense_Mutation_p.A188V|ASTN2_uc004bjt.1_Missense_Mutation_p.A188V	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	188	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						GAGAGTGGGGGCGGTGGCTTG	0.612													A	120053672	G	A	120053672	3	1	94	1	0	0	0	0	1	0	0	0	1065	1203	42	2	3619	2	ASTN2	9	120053672	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	149977	120053672	21159759	1768	60901											
TLR4	7099	broad.mit.edu	37	chr9	120476762	120476762	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcagcaggtggagctgTaccgccttctcagcaggaac	13	12	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:120476762T>C	uc004bjz.2	+	3	2647	c.2356T>C	c.(2356-2358)TAC>CAC	p.Y786H	TLR4_uc004bka.2_Missense_Mutation_p.Y746H|TLR4_uc004bkb.2_Missense_Mutation_p.Y586H	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	786	Cytoplasmic (Potential).|TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						GGTGGAGCTGTACCGCCTTCT	0.557													C	120476762	T	C	120476762	3	2	94	1	0	0	0	0	1	0	0	0	15950	1638	57	3	2366	3	TLR4	9	120476762	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	423090	120476762	20736669	1769	60902											
PSMD5	5711	broad.mit.edu	37	chr9	123595605	123595605	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	catacctgggaaagagtgagGatttttacagaatcatcagg	11	6	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:123595605G>T	uc004bko.2	-	2	322	c.303C>A	c.(301-303)ATC>ATA	p.I101I	PSMD5_uc011lye.1_Silent_p.I101I	NM_005047	NP_005038	Q16401	PSMD5_HUMAN	proteasome 26S non-ATPase subunit 5	101					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding				0						AAAGAGTGAGGATTTTTACAG	0.348													T	123595605	G	T	123595605	2	4	94	1	0	0	0	0	0	0	0	1	12701	1164	41	5		5	PSMD5	9	123595605	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3118843	123595605	17617826	1770	60903											
TRAF1	7185	broad.mit.edu	37	chr9	123671571	123671571	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatgatcacgatgaagagCgacagatgggttctctttcc	10	10	3	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:123671571C>T	uc004bku.1	-	7	1541	c.969G>A	c.(967-969)TCG>TCA	p.S323S	TRAF1_uc011lyg.1_Silent_p.S201S|TRAF1_uc010mvl.1_Silent_p.S323S	NM_005658	NP_005649	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	323	MATH.				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			skin(2)|ovary(1)	3						CGATGAAGAGCGACAGATGGG	0.527													T	123671571	C	T	123671571	2	4	94	1	0	0	0	0	0	0	0	1	16434	755	27	1		1	TRAF1	9	123671571	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	75966	123671571	17541860	1771	60904											
C5	727	broad.mit.edu	37	chr9	123783955	123783955	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctaccaactggtcaagCgaatctttaacctgcacctg	6	15	2	0	rs148479499	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:123783955C>T	uc004bkv.2	-	11	1164	c.1134G>A	c.(1132-1134)TCG>TCA	p.S378S	C5_uc010mvm.1_Silent_p.S378S|C5_uc010mvn.1_Silent_p.S378S	NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	378					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ACTGGTCAAGCGAATCTTTAA	0.383													T	123783955	C	T	123783955	2	4	94	1	0	0	0	0	0	0	0	1	2280	755	27	1		1	C5	9	123783955	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	112384	123783955	17429476	1772	60905											
DAB2IP	153090	broad.mit.edu	37	chr9	124535231	124535231	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggcaggccagacaccaacCacaccaggcacctccgaggg	12	17	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:124535231C>A	uc004bln.2	+	12	2409	c.2340C>A	c.(2338-2340)ACC>ACA	p.T780T	DAB2IP_uc004blo.2_Silent_p.T684T|DAB2IP_uc004blp.2_Silent_p.T213T	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	808					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2						AGACACCAACCACACCAGGCA	0.726													A	124535231	C	A	124535231	2	1	94	1	0	0	0	0	0	0	0	1	4219	581	21	5		5	DAB2IP	9	124535231	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	751276	124535231	16678200	1773	60906											
OR1B1	347169	broad.mit.edu	37	chr9	125391289	125391289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaggaaggttaacgttgcCcccagcatccccagtccagc	11	14	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:125391289C>T	uc011lyz.1	-	1	526	c.526G>A	c.(526-528)GGC>AGC	p.G176S		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B,	176	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTAACGTTGCCCCCAGCATCC	0.537													T	125391289	C	T	125391289	3	4	94	1	0	0	0	0	1	0	0	0	10951	623	22	4	433	4	OR1B1	9	125391289	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	856058	125391289	15822142	1774	60907											
OR1K1	392392	broad.mit.edu	37	chr9	125562731	125562731	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctttgccctgggggtAactgatagctgtcttctggc	11	10	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:125562731A>G	uc011lze.1	+	1	330	c.330A>G	c.(328-330)GTA>GTG	p.V110V		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CCCTGGGGGTAACTGATAGCT	0.597													G	125562731	A	G	125562731	2	3	94	1	0	0	0	0	0	0	0	1	10962	349	13	3		3	OR1K1	9	125562731	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	171442	125562731	15650700	1775	60908											
ZBTB6	10773	broad.mit.edu	37	chr9	125674193	125674193	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctcataaaagtggagcaAgcagccaaaatcaccttgtg	8	10	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:125674193A>G	uc004bnh.2	-	2	248	c.159T>C	c.(157-159)GCT>GCC	p.A53A		NM_006626	NP_006617	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	53	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAGTGGAGCAAGCAGCCAAAA	0.373													G	125674193	A	G	125674193	2	3	94	1	0	0	0	0	0	0	0	1	17549	59	3	3		3	ZBTB6	9	125674193	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	111462	125674193	15539238	1776	60909											
RABGAP1	23637	broad.mit.edu	37	chr9	125761008	125761008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctggcccttcagcaaacGtagtactactgaaaatttct	6	10	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:125761008G>A	uc011lzh.1	+	10	1471	c.1337G>A	c.(1336-1338)CGT>CAT	p.R446H	RABGAP1_uc004bnl.3_RNA	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	446					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						TTCAGCAAACGTAGTACTACT	0.383													A	125761008	G	A	125761008	3	1	94	1	0	0	0	0	1	0	0	0	12964	1145	40	1	1371	1	RABGAP1	9	125761008	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	86815	125761008	15452423	1777	60910											
RABGAP1	23637	broad.mit.edu	37	chr9	125839022	125839022	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaatgcaaaaaaactaatggAattagcctgcaacatgaagg	8	6	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:125839022A>T	uc011lzh.1	+	19	2539	c.2405A>T	c.(2404-2406)GAA>GTA	p.E802V	RABGAP1_uc004bnl.3_RNA|RABGAP1_uc011lzj.1_Missense_Mutation_p.E141V	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	802	Potential.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						AAACTAATGGAATTAGCCTGC	0.338													T	125839022	A	T	125839022	3	4	94	1	0	0	0	0	1	0	0	0	12964	246	9	5	2475	5	RABGAP1	9	125839022	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	78014	125839022	15374409	1778	60911											
CRB2	286204	broad.mit.edu	37	chr9	126134517	126134517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgacttccactgtacctGccctgccaatttcacggggc	9	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:126134517G>A	uc004bnx.1	+	9	2590	c.2498G>A	c.(2497-2499)TGC>TAC	p.C833Y	CRB2_uc004bnw.1_Missense_Mutation_p.C833Y	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	833	Extracellular (Potential).|EGF-like 11.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						CACTGTACCTGCCCTGCCAAT	0.622													A	126134517	G	A	126134517	3	1	94	1	0	0	0	0	1	0	0	0	3849	1319	46	2	2532	2	CRB2	9	126134517	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	295495	126134517	15078914	1779	60912											
LHX2	9355	broad.mit.edu	37	chr9	126777648	126777648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgacgtggcagcggcggccGctgcagccgcggcggccaag	18	16	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:126777648G>A	uc004boe.1	+	3	1310	c.571G>A	c.(571-573)GCT>ACT	p.A191T	LHX2_uc010mwi.1_Missense_Mutation_p.A199T	NM_004789	NP_004780	P50458	LHX2_HUMAN	LIM homeobox protein 2	191	Poly-Ala.			AAA -> RAR (in Ref. 1).		nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGCGGCGGCCGCTGCAGCCGC	0.687													A	126777648	G	A	126777648	3	1	94	1	0	0	0	0	1	0	0	0	8771	1087	38	1	581	1	LHX2	9	126777648	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	643131	126777648	14435783	1780	60913											
GAPVD1	26130	broad.mit.edu	37	chr9	128064303	128064303	+	Frame_Shift_Del	DEL	T	T	-													atgttgccaacatgccaaaaTtttggaagatacacaatttg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:128064303delT	uc010mwx.2	+	5	553	c.227delT	c.(226-228)ATTfs	p.I76fs	GAPVD1_uc004bpo.2_Frame_Shift_Del_p.I76fs|GAPVD1_uc011lzs.1_Frame_Shift_Del_p.I76fs|GAPVD1_uc004bpp.2_Frame_Shift_Del_p.I76fs|GAPVD1_uc004bpq.2_Frame_Shift_Del_p.I76fs|GAPVD1_uc004bpr.2_Frame_Shift_Del_p.I76fs|GAPVD1_uc004bps.2_Frame_Shift_Del_p.I76fs|GAPVD1_uc010mwy.1_5'UTR	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	76					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						CATGCCAAAATTTTGGAAGAT	0.343													-	128064303	T	-	128064303	7	5	94	1	0	1	0	1	0	0	0	0	6239	1493	52	0	233	0	GAPVD1	9	128064303	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	1286655	128064303	13149128	1781	60914											
MAPKAP1	79109	broad.mit.edu	37	chr9	128246828	128246828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtggctatgtcaatttgCgaatcctcctcaaaaacccc	6	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:128246828C>T	uc004bpv.2	-	9	1434	c.1101G>A	c.(1099-1101)TCG>TCA	p.S367S	MAPKAP1_uc011lzt.1_Silent_p.S170S|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Silent_p.S170S|MAPKAP1_uc011lzv.1_Silent_p.S75S|MAPKAP1_uc004bpw.2_Silent_p.S175S|MAPKAP1_uc004bpx.2_Silent_p.S175S|MAPKAP1_uc004bpy.2_Silent_p.S331S|MAPKAP1_uc004bpz.2_Intron|MAPKAP1_uc010mxa.2_RNA	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated	367					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			ovary(2)|lung(2)	4						TGTCAATTTGCGAATCCTCCT	0.458													T	128246828	C	T	128246828	2	4	94	1	0	0	0	0	0	0	0	1	9288	755	27	1		1	MAPKAP1	9	128246828	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	182525	128246828	12966603	1782	60915											
FAM125B	89853	broad.mit.edu	37	chr9	129102803	129102803	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaccagtccaccatgcCtgaagtcaaagacctctcag	8	15	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:129102803C>A	uc004bqh.1	+	2	179	c.98C>A	c.(97-99)CCT>CAT	p.P33H	FAM125B_uc004bqg.1_Missense_Mutation_p.P33H|FAM125B_uc011lzy.1_Missense_Mutation_p.P18H	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	hypothetical protein LOC89853 isoform 1	33					protein transport	late endosome membrane					0						TCCACCATGCCTGAAGTCAAA	0.463													A	129102803	C	A	129102803	3	1	94	1	0	0	0	0	1	0	0	0	5428	681	24	5	104	5	FAM125B	9	129102803	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	855975	129102803	12110628	1783	60916											
ZBTB43	23099	broad.mit.edu	37	chr9	129595580	129595580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggatgtgcacgcgacctaCgacgagcaccaggtcacaga	12	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:129595580C>T	uc004bql.2	+	3	1065	c.792C>T	c.(790-792)TAC>TAT	p.Y264Y	ZBTB43_uc010mxf.2_Silent_p.Y264Y	NM_014007	NP_054726	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ACGCGACCTACGACGAGCACC	0.587													T	129595580	C	T	129595580	2	4	94	1	0	0	0	0	0	0	0	1	17541	547	19	1		1	ZBTB43	9	129595580	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	492777	129595580	11617851	1784	60917											
RALGPS1	9649	broad.mit.edu	37	chr9	129796780	129796780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacgttgtggcctttacccGgaggtttaaccaggtaagca	11	9	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:129796780G>A	uc004bqo.1	+	5	554	c.287G>A	c.(286-288)CGG>CAG	p.R96Q	RALGPS1_uc011mab.1_Missense_Mutation_p.R96Q|RALGPS1_uc011mac.1_Missense_Mutation_p.R96Q|RALGPS1_uc004bqq.3_Missense_Mutation_p.R96Q	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	96	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			ovary(1)	1						GCCTTTACCCGGAGGTTTAAC	0.527													A	129796780	G	A	129796780	3	1	94	1	0	0	0	0	1	0	0	0	13017	1116	39	1	301	1	RALGPS1	9	129796780	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	201200	129796780	11416651	1785	60918											
SLC2A8	29988	broad.mit.edu	37	chr9	130167203	130167203	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctcggcgcctgtctctgcAcagcctgttgatgccagcgt	11	14	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:130167203A>G	uc004bqu.2	+	8	1128	c.1083A>G	c.(1081-1083)GCA>GCG	p.A361A	SLC2A8_uc010mxj.2_Silent_p.A361A|SLC2A8_uc004bqv.2_Silent_p.A33A	NM_014580	NP_055395	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose	361	Extracellular (Potential).					cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						CTGTCTCTGCACAGCCTGTTG	0.662													G	130167203	A	G	130167203	2	3	94	1	0	0	0	0	0	0	0	1	14551	146	6	3		3	SLC2A8	9	130167203	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	370423	130167203	11046228	1786	60919											
STXBP1	6812	broad.mit.edu	37	chr9	130438929	130438929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgtgccctcaggcatcaCggaggaaaacctgaacaaac	9	12	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:130438929C>T	uc004brl.2	+	15	1453	c.1256C>T	c.(1255-1257)ACG>ATG	p.T419M	STXBP1_uc004brk.2_Missense_Mutation_p.T419M	NM_001032221	NP_001027392	P61764	STXB1_HUMAN	syntaxin binding protein 1 isoform b	419					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			skin(1)	1						TCAGGCATCACGGAGGAAAAC	0.597													T	130438929	C	T	130438929	3	4	94	1	0	0	0	0	1	0	0	0	15351	536	19	1	1314	1	STXBP1	9	130438929	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	271726	130438929	10774502	1787	60920											
TOR2A	27433	broad.mit.edu	37	chr9	130496604	130496605	+	Frame_Shift_Ins	INS	-	-	G													cgctcgatgtggctggggtgINSggggaagtggaggacgggag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:130496603_130496604T>TG	uc004brs.4	-	1	470_471	c.391_392A>CA	c.(391-393)cacfs	p.H131fs	TOR2A_uc022bnq.1_Intron|TOR2A_uc004bru.4_Intron|TOR2A_uc004brv.4_Intron|TOR2A_uc011maj.2_Intron|TOR2A_uc004brt.4_Frame_Shift_Ins_p.H131fs|TOR2A_uc004brw.4_Frame_Shift_Ins_p.H131fs	NM_001085347	NP_001078816	Q5JU69	TOR2A_HUMAN	Homo sapiens torsin family 2, member A (TOR2A), transcript variant 1, mRNA.	131					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity			NS(1)|endometrium(2)	3						GTGGCTGGGGTGGGGGAAGTGG	0.629											OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	130496605	-	G	130496604	7	5	94	1	0	1	1	0	0	0	0	0	16372	1348	47	0	759	0	TOR2A	9	130496604	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	57675	130496604	10716827	1788	60921											
FPGS	2356	broad.mit.edu	37	chr9	130566653	130566653	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaccctcagacacagttGgaagccatggaactgtacct	11	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:130566653G>T	uc004bsg.1	+	2	278	c.228G>T	c.(226-228)TTG>TTT	p.L76F	FPGS_uc004bsf.1_RNA|FPGS_uc004bsh.1_5'UTR|FPGS_uc011mal.1_Missense_Mutation_p.L76F|FPGS_uc004bsi.1_Missense_Mutation_p.L26F	NM_004957	NP_004948	Q05932	FOLC_HUMAN	folylpolyglutamate synthase isoform a precursor	76					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity				0					L-Glutamic Acid(DB00142)	AGACACAGTTGGAAGCCATGG	0.612													T	130566653	G	T	130566653	3	4	94	1	0	0	0	0	1	0	0	0	6036	1339	47	5	234	5	FPGS	9	130566653	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	70049	130566653	10646778	1789	60922											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130649057	130649057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagggcatgcgctggaggcGgggccgctggctgggacaga	21	9	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:130649057G>A	uc004bso.1	-	7	942	c.823C>T	c.(823-825)CGC>TGC	p.R275C	ST6GALNAC6_uc004bsn.1_Missense_Mutation_p.R241C|ST6GALNAC6_uc011man.1_Missense_Mutation_p.R75C|ST6GALNAC6_uc004bsp.1_Silent_p.P273P|ST6GALNAC6_uc004bsq.1_Missense_Mutation_p.R241C|ST6GALNAC6_uc004bsr.2_Missense_Mutation_p.R241C|ST6GALNAC6_uc010mxp.1_RNA	NM_013443	NP_038471	Q969X2	SIA7F_HUMAN	sialytransferase 7F	275	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane|plasma membrane					0						CGCTGGAGGCGGGGCCGCTGG	0.363													A	130649057	G	A	130649057	3	1	94	1	0	0	0	0	1	0	0	0	15227	1116	39	1	182	1	ST6GALNAC6	9	130649057	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	82404	130649057	10564374	1790	60923											
PKN3	29941	broad.mit.edu	37	chr9	131477738	131477738	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagccgggacgagatagagAggtgtgtgggggtgccgcag	20	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:131477738A>G	uc004bvw.2	+	15	2200	c.1807A>G	c.(1807-1809)AGC>GGC	p.S603G	PKN3_uc010myh.2_Missense_Mutation_p.S603G|PKN3_uc011mbk.1_Missense_Mutation_p.S153G	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	protein kinase PKNbeta	603	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			stomach(2)|lung(2)	4						CGAGATAGAGAGGTGTGTGGG	0.622													G	131477738	A	G	131477738	3	3	94	1	0	0	0	0	1	0	0	0	11981	318	11	3	1865	3	PKN3	9	131477738	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	828681	131477738	9735693	1791	60924											
ZER1	10444	broad.mit.edu	37	chr9	131516110	131516110	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgcggatggcctccaggTcctggtcctgcaccaggtcc	13	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:131516110T>C	uc004bwa.1	-	3	720	c.287A>G	c.(286-288)GAC>GGC	p.D96G		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	96					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						GGCCTCCAGGTCCTGGTCCTG	0.677													C	131516110	T	C	131516110	3	2	94	1	0	0	0	0	1	0	0	0	17622	1667	58	3	2069	3	ZER1	9	131516110	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	38372	131516110	9697321	1792	60925											
C9orf114	51490	broad.mit.edu	37	chr9	131588873	131588873	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtacgcacgcctgccccTtcttcccaactcctgtgaat	7	17	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:131588873T>C	uc004bwd.2	-	5	430	c.404A>G	c.(403-405)AAG>AGG	p.K135R	C9orf114_uc004bwe.2_Missense_Mutation_p.K135R|C9orf114_uc010mym.2_RNA	NM_016390	NP_057474	Q5T280	CI114_HUMAN	hypothetical protein LOC51490	135											0						CGCCTGCCCCTTCTTCCCAAC	0.587													C	131588873	T	C	131588873	3	2	94	1	0	0	0	0	1	0	0	0	2449	1609	56	3	758	3	C9orf114	9	131588873	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	72763	131588873	9624558	1793	60926											
NUP188	23511	broad.mit.edu	37	chr9	131715088	131715088	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgaataaacattggcggCgattgttagaggggctttct	12	6	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:131715088C>T	uc004bws.1	+	3	146	c.124C>T	c.(124-126)CGA>TGA	p.R42*	NUP188_uc004bwq.1_Nonsense_Mutation_p.R44*	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	42					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						ACATTGGCGGCGATTGTTAGA	0.363													T	131715088	C	T	131715088	4	4	94	1	0	0	0	0	0	1	0	0	10758	760	27	1	134	1	NUP188	9	131715088	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	126215	131715088	9498343	1794	60927											
NUP188	23511	broad.mit.edu	37	chr9	131733113	131733113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggcctgggctctcctccGtcacactctgaacccagaag	9	15	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:131733113G>A	uc004bws.1	+	11	1011	c.989G>A	c.(988-990)CGT>CAT	p.R330H		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	330					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						GCTCTCCTCCGTCACACTCTG	0.502													A	131733113	G	A	131733113	3	1	94	1	0	0	0	0	1	0	0	0	10758	1145	40	1	1031	1	NUP188	9	131733113	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	18025	131733113	9480318	1795	60928											
TOR1B	27348	broad.mit.edu	37	chr9	132569623	132569623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggagtgtcttaccgcaaaGccatcttcatctttctcagg	8	12	5	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:132569623G>A	uc004byk.1	+	3	682	c.622G>A	c.(622-624)GCC>ACC	p.A208T		NM_014506	NP_055321	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B) precursor	208					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding				0		Ovarian(14;0.0586)				TTACCGCAAAGCCATCTTCAT	0.488													A	132569623	G	A	132569623	3	1	94	1	0	0	0	0	1	0	0	0	16371	971	34	2	632	2	TOR1B	9	132569623	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	836510	132569623	8643808	1796	60929											
NUP214	8021	broad.mit.edu	37	chr9	134073008	134073009	+	Frame_Shift_Ins	INS	-	-	CC													tcagggtttaattttactgcINSccccccggtgttagggaagc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:134073007_134073008G>GCC	uc004cag.3	+	28	4237_4238	c.4126_4127G>GCC	c.(4126-4128)gccfs	p.A1376fs	NUP214_uc004cah.3_Frame_Shift_Ins_p.A1366fs|NUP214_uc004cai.3_Frame_Shift_Ins_p.A806fs|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Frame_Shift_Ins_p.A202fs|NUP214_uc011mcf.1_Frame_Shift_Ins_p.A153fs|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1376	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAATTTTACTGCCCCCCCGGTG	0.545			T	"DEK, SET, ABL1"	"AML, T-ALL"								CC	134073009	-	CC	134073008	7	5	94	1	0	1	1	0	0	0	0	0	10762	739	26	0	4241	0	NUP214	9	134073008	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1503385	134073008	7140423	1797	60930											
PPAPDC3	84814	broad.mit.edu	37	chr9	134183546	134183546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcgtgggcctgtcccgcGtgatgatcggccgccaccac	13	16	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:134183546G>A	uc004cal.2	+	2	992	c.688G>A	c.(688-690)GTG>ATG	p.V230M		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain	230	Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(1)	1	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CCTGTCCCGCGTGATGATCGG	0.667													A	134183546	G	A	134183546	3	1	94	1	0	0	0	0	1	0	0	0	12296	1145	40	1	694	1	PPAPDC3	9	134183546	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	110538	134183546	7029885	1798	60931											
BAT2L1	84726	broad.mit.edu	37	chr9	134323116	134323116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggtggagcgggcaccaCggcccaccattatcaatgcg	13	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:134323116C>T	uc004can.3	+	8	1100	c.1045C>T	c.(1045-1047)CGG>TGG	p.R349W	BAT2L1_uc010mzj.1_Translation_Start_Site	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	349							protein binding				0						GCGGGCACCACGGCCCACCAT	0.552													T	134323116	C	T	134323116	3	4	94	1	0	0	0	0	1	0	0	0	1320	527	19	1	1075	1	BAT2L1	9	134323116	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	139570	134323116	6890315	1799	60932											
RAPGEF1	2889	broad.mit.edu	37	chr9	134473641	134473641	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtcaatgagggacagcTcgtccacttcctcctccgac	10	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:134473641T>G	uc004cbc.2	-	13	2130	c.2000A>C	c.(1999-2001)GAG>GCG	p.E667A	RAPGEF1_uc004cbb.2_Missense_Mutation_p.E685A|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Missense_Mutation_p.E842A|RAPGEF1_uc004cbd.2_Missense_Mutation_p.E672A|RAPGEF1_uc010mzs.1_Missense_Mutation_p.E199A|RAPGEF1_uc010mzl.1_Missense_Mutation_p.E165A|RAPGEF1_uc010mzo.1_3'UTR|RAPGEF1_uc010mzp.1_Missense_Mutation_p.E144A|RAPGEF1_uc010mzq.1_Missense_Mutation_p.E251A|RAPGEF1_uc010mzr.1_Missense_Mutation_p.E252A	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	667					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GAGGGACAGCTCGTCCACTTC	0.587													G	134473641	T	G	134473641	3	3	94	1	0	0	0	0	1	0	0	0	13043	1551	54	5	1281	5	RAPGEF1	9	134473641	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	150525	134473641	6739790	1800	60933											
NTNG2	84628	broad.mit.edu	37	chr9	135073695	135073695	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgccgggcccgcgacatgTcatcctccagcgcgcaccgc	11	21	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:135073695T>C	uc004cbh.2	+	3	1332	c.556T>C	c.(556-558)TCA>CCA	p.S186P		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	186	Laminin N-terminal.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CCGCGACATGTCATCCTCCAG	0.672													C	135073695	T	C	135073695	3	2	94	1	0	0	0	0	1	0	0	0	10705	1667	58	3	562	3	NTNG2	9	135073695	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	600054	135073695	6139736	1801	60934											
SETX	23064	broad.mit.edu	37	chr9	135153636	135153636	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactggtcgtagccatactcCtgtgctttctgtgaggggca	13	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:135153636C>A	uc004cbk.2	-	21	6846	c.6663G>T	c.(6661-6663)CAG>CAT	p.Q2221H	SETX_uc004cbj.2_Missense_Mutation_p.Q1840H|SETX_uc010mzt.2_Missense_Mutation_p.Q1840H	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	2221					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AGCCATACTCCTGTGCTTTCT	0.413													A	135153636	C	A	135153636	3	1	94	1	0	0	0	0	1	0	0	0	14141	680	24	5	1394	5	SETX	9	135153636	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	79941	135153636	6059795	1802	60935											
TTF1	7270	broad.mit.edu	37	chr9	135277373	135277373	+	Frame_Shift_Del	DEL	T	T	-													ggtgattggactttttcttcTtttttttcttagactttttt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:135277372_135277372CT>C	uc004cbl.3	-	1	906	c.837_837AG>G	c.(835-837)aagfs	p.K279fs	TTF1_uc004cbm.3_Intron|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	279	Poly-Lys.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACTTTTTCTTCTTTTTTTTCT	0.478													-	135277373	T	-	135277373	7	5	94	1	0	1	0	1	0	0	0	0	16715	1609	56	0	1921	0	TTF1	9	135277373	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	123737	135277373	5936058	1803	60936											
GTF3C4	9329	broad.mit.edu	37	chr9	135554691	135554691	+	Frame_Shift_Del	DEL	A	A	-													atttttacaagaagctttggAaaaaaagattgaaagcagtg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:135554690_135554690GA>G	uc010mzv.3	+	1	1942	c.1684_1684GA>G	c.(1684-1686)gaafs	p.E562fs	GTF3C4_uc010mzw.3_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.	562					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		AGAAGCTTTGGAAAAAAAGAT	0.348													-	135554691	A	-	135554691	7	5	94	1	0	1	0	1	0	0	0	0	6875	246	9	0	1691	0	GTF3C4	9	135554691	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	277318	135554691	5658740	1804	60937											
C9orf98	158067	broad.mit.edu	37	chr9	135690031	135690031	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaacgtggcctacctgccaTctccttttcaaagaagggct	10	12	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:135690031T>G	uc004cbu.1	-	10	1529	c.973A>C	c.(973-975)ATG>CTG	p.M325L	C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Missense_Mutation_p.M121L	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	putative adenylate kinase-like protein C9orf98	325	Adenylate kinase.					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)		CTACCTGCCATCTCCTTTTCA	0.517													G	135690031	T	G	135690031	3	3	94	1	0	0	0	0	1	0	0	0	2509	1435	50	5	482	5	C9orf98	9	135690031	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	135340	135690031	5523400	1805	60938											
GTF3C5	9328	broad.mit.edu	37	chr9	135919143	135919143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttccagtacttggctgtGcatacggaagcaggcggcaa	13	10	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:135919143G>A	uc004cci.3	+	3	739	c.402G>A	c.(400-402)GTG>GTA	p.V134V	GTF3C5_uc010mzz.2_Silent_p.V9V|GTF3C5_uc004ccj.3_Silent_p.V134V	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	134						transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		ACTTGGCTGTGCATACGGAAG	0.562													A	135919143	G	A	135919143	2	1	94	1	0	0	0	0	0	0	0	1	6876	1306	46	2		2	GTF3C5	9	135919143	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	229112	135919143	5294288	1806	60939											
CEL	1056	broad.mit.edu	37	chr9	135945943	135945943	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcagatgacattcagtAcgttttcgggaagcccttcg	10	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:135945943A>G	uc010naa.1	+	10	1407	c.1391A>G	c.(1390-1392)TAC>TGC	p.Y464C		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	461					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GACATTCAGTACGTTTTCGGG	0.582													G	135945943	A	G	135945943	3	3	94	1	0	0	0	0	1	0	0	0	3209	391	14	3	1429	3	CEL	9	135945943	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	26800	135945943	5267488	1807	60940											
GBGT1	26301	broad.mit.edu	37	chr9	136030623	136030623	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggctggtagatgtgctGcagaagctctgggttgaagg	17	6	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:136030623G>A	uc004ccw.2	-	6	582	c.301C>T	c.(301-303)CAG>TAG	p.Q101*	RALGDS_uc011mcw.1_Missense_Mutation_p.A113V|GBGT1_uc004ccx.2_Nonsense_Mutation_p.Q54*|GBGT1_uc010nab.2_Missense_Mutation_p.A113V|GBGT1_uc011mcx.1_Nonsense_Mutation_p.Q84*|GBGT1_uc010nac.1_5'UTR|GBGT1_uc004ccy.1_Nonsense_Mutation_p.Q101*	NM_021996	NP_068836	Q8N5D6	GBGT1_HUMAN	globoside	101	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)		TAGATGTGCTGCAGAAGCTCT	0.637													A	136030623	G	A	136030623	4	1	94	1	0	0	0	0	0	1	0	0	6272	1328	46	2	750	2	GBGT1	9	136030623	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	84680	136030623	5182808	1808	60941											
MED22	6837	broad.mit.edu	37	chr9	136208462	136208462	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccagcagaggggccgagaGgccatcagcagagtctgtgt	16	11	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:136208462G>T	uc004cdc.2	-	5	730	c.496C>A	c.(496-498)CTC>ATC	p.L166I	MED22_uc004cdd.2_3'UTR	NM_133640	NP_598395	Q15528	MED22_HUMAN	mediator complex subunit 22 isoform b	166					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		GGGGCCGAGAGGCCATCAGCA	0.642													T	136208462	G	T	136208462	3	4	94	1	0	0	0	0	1	0	0	0	9440	1000	35	5	110	5	MED22	9	136208462	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	177839	136208462	5004969	1809	60942											
RPL7A	6130	broad.mit.edu	37	chr9	136216817	136216819	+	In_Frame_Del	DEL	GAG	GAG	-													acagaccagagacaaagcaaGagaagaagcagagactgttg					rs147624133		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:136216817_136216819delGAG	uc004cde.1	+	4	355_357	c.325_327delGAG	c.(325-327)GAGdel	p.E109del	MED22_uc004cdc.2_5'Flank|MED22_uc004cdd.2_5'Flank|RPL7A_uc004cdf.1_5'UTR|SNORD36B_uc010nai.1_5'Flank|SNORD36A_uc010naj.2_5'Flank|SNORD36C_uc010nak.2_5'Flank	NM_000972	NP_000963	P62424	RL7A_HUMAN	ribosomal protein L7a	109					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome				0				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		GACAAAGCAAGAGAAGAAGCAGA	0.537													-	136216819	GAG	-	136216817	7	5	94	1	0	1	0	1	0	0	0	0	13600	943	33	0	339	0	RPL7A	9	136216817	In_Frame_Del	DEL	GAG	TCGA-BR-8487-01A-11D-2394-08	8355	136216817	4996614	1810	60943											
ADAMTS13	11093	broad.mit.edu	37	chr9	136302896	136302896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgcagacacatgtgccGggccattggcgagagcttca	13	11	2	2	rs147201977	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:136302896G>A	uc004cdv.3	+	13	1907	c.1463G>A	c.(1462-1464)CGG>CAG	p.R488Q	ADAMTS13_uc004cdp.3_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.R488Q|ADAMTS13_uc004cdu.1_Missense_Mutation_p.R457Q|ADAMTS13_uc004cdw.3_Missense_Mutation_p.R488Q|ADAMTS13_uc004cdx.3_Missense_Mutation_p.R457Q|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Missense_Mutation_p.R158Q|ADAMTS13_uc004cds.1_Intron|ADAMTS13_uc004cdr.1_RNA	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	488					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)		CACATGTGCCGGGCCATTGGC	0.637													A	136302896	G	A	136302896	3	1	94	1	0	0	0	0	1	0	0	0	258	1116	39	1	1513	1	ADAMTS13	9	136302896	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	86079	136302896	4910535	1811	60944											
ADAMTS13	11093	broad.mit.edu	37	chr9	136305465	136305465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggctggttccccgacagCggtgaggatcggagggcgct	18	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:136305465C>T	uc004cdv.3	+	16	2231	c.1787C>T	c.(1786-1788)GCG>GTG	p.A596V	ADAMTS13_uc004cdp.3_5'UTR|ADAMTS13_uc004cdt.1_Missense_Mutation_p.A596V|ADAMTS13_uc004cdu.1_Missense_Mutation_p.A565V|ADAMTS13_uc004cdw.3_Missense_Mutation_p.A596V|ADAMTS13_uc004cdx.3_Missense_Mutation_p.A565V|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Missense_Mutation_p.A266V|ADAMTS13_uc004cds.1_Missense_Mutation_p.A121V|ADAMTS13_uc004cdr.1_RNA	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	596	Spacer.				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)		TCCCCGACAGCGGTGAGGATC	0.622													T	136305465	C	T	136305465	3	4	94	1	0	0	0	0	1	0	0	0	258	782	27	1	1849	1	ADAMTS13	9	136305465	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2569	136305465	4907966	1812	60945											
ADAMTSL2	9719	broad.mit.edu	37	chr9	136406103	136406103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgtgacgggcaactatcGcaaggggaatgcccaccttg	12	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:136406103G>A	uc011mdl.1	+	7	1219	c.662G>A	c.(661-663)CGC>CAC	p.R221H	ADAMTSL2_uc004cei.2_Missense_Mutation_p.R221H	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN	ADAMTS-like 2 precursor	221					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GGCAACTATCGCAAGGGGAAT	0.473													A	136406103	G	A	136406103	3	1	94	1	0	0	0	0	1	0	0	0	275	1087	38	1	684	1	ADAMTSL2	9	136406103	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	100638	136406103	4807328	1813	60946											
SARDH	1757	broad.mit.edu	37	chr9	136573438	136573438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggtctctcctcatgttgcGcccggccagcggctcatcgt	12	16	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:136573438G>A	uc004cep.3	-	11	1575	c.1441C>T	c.(1441-1443)CGC>TGC	p.R481C	SARDH_uc004ceo.2_Missense_Mutation_p.R481C|SARDH_uc011mdn.1_Missense_Mutation_p.R481C|SARDH_uc011mdo.1_Missense_Mutation_p.R313C	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	481					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CTCATGTTGCGCCCGGCCAGC	0.662													A	136573438	G	A	136573438	3	1	94	1	0	0	0	0	1	0	0	0	13841	1087	38	1	1359	1	SARDH	9	136573438	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	167335	136573438	4639993	1814	60947											
VAV2	7410	broad.mit.edu	37	chr9	136726543	136726543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagggagagcctcgacacCgcggagatgacctgggggag	18	10	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:136726543C>T	uc004ces.2	-	3	379	c.333G>A	c.(331-333)GCG>GCA	p.A111A	VAV2_uc004cer.2_Silent_p.A111A	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	111	CH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	p.A111V(1)		central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GCCTCGACACCGCGGAGATGA	0.577													T	136726543	C	T	136726543	2	4	94	1	0	0	0	0	0	0	0	1	17129	639	23	1		1	VAV2	9	136726543	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	153105	136726543	4486888	1815	60948											
BRD3	8019	broad.mit.edu	37	chr9	136913300	136913300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcttgtagaagggccaggCgtaggccgcgtgcttcttgg	17	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:136913300C>T	uc004cew.2	-	6	1179	c.991G>A	c.(991-993)GCC>ACC	p.A331T	BRD3_uc004cex.2_Missense_Mutation_p.A331T	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	331	Bromo 2.					nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AAGGGCCAGGCGTAGGCCGCG	0.612			T	NUT|C15orf55	lethal midline carcinoma of young people								T	136913300	C	T	136913300	3	4	94	1	0	0	0	0	1	0	0	0	1503	768	27	1	1217	1	BRD3	9	136913300	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	186757	136913300	4300131	1816	60949											
RXRA	6256	broad.mit.edu	37	chr9	137300040	137300041	+	Frame_Shift_Ins	INS	-	-	C													cagcagcgaggacatcaagcINScccccctgggcctcaatggc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:137300039_137300040G>GC	uc004cfb.2	+	2	486_487	c.324_325G>GC	c.(322-327)aagcccfs	p.K108fs	RXRA_uc004cfc.1_Frame_Shift_Ins_p.K11fs	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	108	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	p.I107I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	AGGACATCAAGCCCCCCCTGGG	0.634													C	137300041	-	C	137300040	7	5	94	1	0	1	1	0	0	0	0	0	13763	739	26	0	335	0	RXRA	9	137300040	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	386740	137300040	3913391	1817	60950											
FCN2	2220	broad.mit.edu	37	chr9	137775200	137775200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaccacctgggcccaaCggtaaggaggggacaagagt	16	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:137775200C>T	uc004cfg.1	+	3	277	c.267C>T	c.(265-267)AAC>AAT	p.N89N	FCN2_uc004cfh.1_Silent_p.N51N	NM_004108	NP_004099	Q15485	FCN2_HUMAN	ficolin 2 isoform a precursor	89	Collagen-like.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			large_intestine(1)	1		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CTGGGCCCAACGGTAAGGAGG	0.617													T	137775200	C	T	137775200	2	4	94	1	0	0	0	0	0	0	0	1	5792	550	19	1		1	FCN2	9	137775200	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	475160	137775200	3438231	1818	60951											
KIAA0649	9858	broad.mit.edu	37	chr9	138378661	138378661	+	Frame_Shift_Del	DEL	C	C	-													gcgagggtcctgggaagaaaCcccccagtgtctttggcagc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:138378661delC	uc004cfr.1	+	4	2854	c.2305delC	c.(2305-2307)CCCfs	p.P769fs		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	769						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		TGGGAAGAAACCCCCCAGTGT	0.677													-	138378661	C	-	138378661	7	5	94	1	0	1	0	1	0	0	0	0	8187	507	18	0	2307	0	KIAA0649	9	138378661	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	603461	138378661	2834770	1819	60952											
KCNT1	57582	broad.mit.edu	37	chr9	138678159	138678159	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccacacgggcggcggtgaCcccgcagagcacccactgct	13	18	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:138678159C>T	uc011mdq.1	+	29	3368	c.3294C>T	c.(3292-3294)GAC>GAT	p.D1098D	KCNT1_uc011mdr.1_Silent_p.D925D|KCNT1_uc010nbf.2_Silent_p.D1053D|KCNT1_uc004cgo.1_3'UTR	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1098						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCGGCGGTGACCCCGCAGAGC	0.746													T	138678159	C	T	138678159	2	4	94	1	0	0	0	0	0	0	0	1	8091	506	18	4		4	KCNT1	9	138678159	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	299498	138678159	2535272	1820	60953											
UBAC1	10422	broad.mit.edu	37	chr9	138830129	138830129	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggttatccaggatggcctgAaagagaggactgtcggggtc	17	7	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:138830129A>G	uc004cgt.2	-	9	1259	c.1041T>C	c.(1039-1041)TTT>TTC	p.F347F	UBAC1_uc004cgs.1_Silent_p.F347F|UBAC1_uc004cgu.2_RNA	NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	ubiquitin associated domain containing 1	347						Golgi apparatus|plasma membrane	protein binding			skin(2)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		GGATGGCCTGAAAGAGAGGAC	0.592													G	138830129	A	G	138830129	2	3	94	1	0	0	0	0	0	0	0	1	16831	243	9	3		3	UBAC1	9	138830129	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	151970	138830129	2383302	1821	60954											
LHX3	8022	broad.mit.edu	37	chr9	139090598	139090598	+	Frame_Shift_Del	DEL	C	C	-													ttcatgttgcggaaatactgCccccagcgctgccggccggc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:139090598delC	uc004cha.2	-	5	772	c.675delG	c.(673-675)GGGfs	p.G225fs	LHX3_uc004cgz.2_Frame_Shift_Del_p.G230fs	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN	LIM homeobox protein 3 isoform a	225					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GGAAATACTGCCCCCAGCGCT	0.697													-	139090598	C	-	139090598	7	5	94	1	0	1	0	1	0	0	0	0	8772	726	26	0	526	0	LHX3	9	139090598	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	260469	139090598	2122833	1822	60955											
SDCCAG3	10807	broad.mit.edu	37	chr9	139298644	139298644	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctggaagttggagacctgCgcctggggggacggttacgg	19	9	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:139298644C>T	uc004chi.2	-	9	1276	c.1071G>A	c.(1069-1071)GCG>GCA	p.A357A	SDCCAG3_uc004chj.2_Silent_p.A334A|SDCCAG3_uc004chk.2_Silent_p.A284A	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	357	Potential.					cytoplasm					0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TGGAGACCTGCGCCTGGGGGG	0.672													T	139298644	C	T	139298644	2	4	94	1	0	0	0	0	0	0	0	1	13958	755	27	1		1	SDCCAG3	9	139298644	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	208046	139298644	1914787	1823	60956											
SEC16A	9919	broad.mit.edu	37	chr9	139370379	139370379	+	Frame_Shift_Del	DEL	A	A	-													ggagaagaatcgatttgcttAaaaaaactacctgaagcttc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:139370379delA	uc004chx.2	-	3	1998	c.1689delT	c.(1687-1689)TTTfs	p.F563fs	SEC16A_uc004chv.3_Frame_Shift_Del_p.F190fs|SEC16A_uc004chw.2_Frame_Shift_Del_p.F563fs|SEC16A_uc010nbn.2_Frame_Shift_Del_p.F563fs|SEC16A_uc010nbo.1_Frame_Shift_Del_p.F563fs	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	385					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CGATTTGCTTAAAAAAACTAC	0.547													-	139370379	A	-	139370379	7	5	94	1	0	1	0	1	0	0	0	0	13986	359	13	0	5504	0	SEC16A	9	139370379	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	71735	139370379	1843052	1824	60957											
LCN6	158062	broad.mit.edu	37	chr9	139641987	139641987	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcccttttcccgggaggccAccgcaagcacgtaccagggc	12	16	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:139641987A>G	uc004ciy.2	-	2	164	c.119T>C	c.(118-120)GTG>GCG	p.V40A	LCN10_uc004ciw.2_RNA|uc004ciz.1_RNA	NM_198946	NP_945184	P62502	LCN6_HUMAN	lipocalin 6 precursor	40					single fertilization	extracellular region	binding				0	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		CCGGGAGGCCACCGCAAGCAC	0.488													G	139641987	A	G	139641987	3	3	94	1	0	0	0	0	1	0	0	0	8685	159	6	3	388	3	LCN6	9	139641987	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	271608	139641987	1571444	1825	60958											
MAMDC4	158056	broad.mit.edu	37	chr9	139754412	139754412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcatgctcctggtgctgCtgggacttgggggacggcgc	17	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:139754412C>T	uc004cjs.2	+	26	3318	c.3268C>T	c.(3268-3270)CTG>TTG	p.L1090L	MAMDC4_uc011mej.1_Silent_p.L427L	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	1169	Helical; (Potential).				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCTGGTGCTGCTGGGACTTGG	0.617													T	139754412	C	T	139754412	2	4	94	1	0	0	0	0	0	0	0	1	9204	796	28	2		2	MAMDC4	9	139754412	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	112425	139754412	1459019	1826	60959											
FBXW5	54461	broad.mit.edu	37	chr9	139836876	139836876	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcattgaggttctggatctTgaacagccgcttcaccacgt	11	11	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:139836876T>C	uc004cjx.2	-	6	869	c.718A>G	c.(718-720)AAG>GAG	p.K240E	FBXW5_uc010nbx.2_RNA|FBXW5_uc004cjy.2_5'UTR|FBXW5_uc004cjz.2_5'UTR|C8G_uc004cka.2_5'Flank	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	240							catalytic activity|protein binding				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TTCTGGATCTTGAACAGCCGC	0.687													C	139836876	T	C	139836876	3	2	94	1	0	0	0	0	1	0	0	0	5768	1821	63	3	998	3	FBXW5	9	139836876	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	82464	139836876	1376555	1827	60960											
UAP1L1	91373	broad.mit.edu	37	chr9	139973063	139973063	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgtttgagcagcgcctgCtgcctgctgtgacctttgat	11	11	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:139973063C>T	uc010ncb.2	+	3	636	c.604C>T	c.(604-606)CTG>TTG	p.L202L	UAP1L1_uc004cla.3_Silent_p.L79L	NM_207309	NP_997192	Q3KQV9	UAP1L_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1-like	202							nucleotidyltransferase activity			ovary(1)	1	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GCAGCGCCTGCTGCCTGCTGT	0.617													T	139973063	C	T	139973063	2	4	94	1	0	0	0	0	0	0	0	1	16823	796	28	2		2	UAP1L1	9	139973063	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	136187	139973063	1240368	1828	60961											
FAM166A	401565	broad.mit.edu	37	chr9	140139908	140139908	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgtgaagcctgcaggcagcaGaatctgtctgggtatgttct	13	9	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:140139908G>A	uc004cmi.1	-	3	428	c.373C>T	c.(373-375)CTG>TTG	p.L125L		NM_001001710	NP_001001710	Q6J272	F166A_HUMAN	hypothetical protein LOC401565	125										ovary(1)	1						GCAGGCAGCAGAATCTGTCTG	0.612													A	140139908	G	A	140139908	2	1	94	1	0	0	0	0	0	0	0	1	5481	933	33	4		4	FAM166A	9	140139908	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	166845	140139908	1073523	1829	60962											
EXD3	54932	broad.mit.edu	37	chr9	140246528	140246528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaaccacctgcaggagtGcaccctcgtgtctggtcagg	14	12	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:140246528G>A	uc004cmp.2	-	12	1359	c.1163C>T	c.(1162-1164)GCA>GTA	p.A388V	C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Missense_Mutation_p.A68V|EXD3_uc004cmq.1_RNA	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	388					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0						CTGCAGGAGTGCACCCTCGTG	0.652													A	140246528	G	A	140246528	3	1	94	1	0	0	0	0	1	0	0	0	5299	1319	46	2	1511	2	EXD3	9	140246528	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	106620	140246528	966903	1830	60963											
NELF	26012	broad.mit.edu	37	chr9	140347536	140347536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtggcacgaagccttcgGtgtcgcaggccacagcctcc	13	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:140347536G>A	uc004cna.2	-	9	1251	c.1019C>T	c.(1018-1020)ACC>ATC	p.T340I	C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_Missense_Mutation_p.T137I|NELF_uc010nci.2_Missense_Mutation_p.T84I|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Missense_Mutation_p.T317I|NELF_uc004cmz.2_Missense_Mutation_p.T338I|NELF_uc004cnc.2_Missense_Mutation_p.T315I|NELF_uc004cnb.2_Missense_Mutation_p.T310I	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	nasal embryonic LHRH factor isoform a	340						nucleus|plasma membrane					0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)		GAAGCCTTCGGTGTCGCAGGC	0.667													A	140347536	G	A	140347536	3	1	94	1	0	0	0	0	1	0	0	0	10332	1261	44	4	605	4	NELF	9	140347536	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	101008	140347536	865895	1831	60964											
PNPLA7	375775	broad.mit.edu	37	chr9	140356679	140356679	+	Frame_Shift_Del	DEL	G	G	-													agggtgctgtagctgtcgatGggggggcgcaggtactcgca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:140356678_140356678TG>T	uc010ncj.1	-	30	3935	c.3598_3598CA>A	c.(3598-3600)atcfs	p.I1200fs	PNPLA7_uc004cnd.1_Frame_Shift_Del_p.I422fs|PNPLA7_uc004cne.1_Frame_Shift_Del_p.I441fs|PNPLA7_uc011mfa.1_Frame_Shift_Del_p.I583fs|PNPLA7_uc004cnf.2_Frame_Shift_Del_p.I1175fs|NELF_uc004cna.3_5'Flank|NELF_uc004cnb.3_5'Flank|NELF_uc004cmz.3_5'Flank|NELF_uc011mez.2_5'Flank|NELF_uc004cnc.3_5'Flank|NELF_uc022bqi.1_5'Flank	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	1175					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TAGCTGTCGATGGGGGGGCGC	0.652													-	140356679	G	-	140356679	7	5	94	1	0	1	0	1	0	0	0	0	12170	1335	47	0	451	0	PNPLA7	9	140356679	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	9143	140356679	856752	1832	60965											
PNPLA7	375775	broad.mit.edu	37	chr9	140372528	140372528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggcaatggcgttgcccGtcagcaccctcgccaggcgg	14	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:140372528G>A	uc004cnf.2	-	24	3102	c.2765C>T	c.(2764-2766)ACG>ATG	p.T922M	C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Missense_Mutation_p.T188M|PNPLA7_uc004cne.1_Missense_Mutation_p.T188M|PNPLA7_uc011mfa.1_Missense_Mutation_p.T330M|PNPLA7_uc010ncj.1_Missense_Mutation_p.T947M	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	922					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGCGTTGCCCGTCAGCACCCT	0.662													A	140372528	G	A	140372528	3	1	94	1	0	0	0	0	1	0	0	0	12170	1145	40	1	1232	1	PNPLA7	9	140372528	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	15849	140372528	840903	1833	60966											
PNPLA7	375775	broad.mit.edu	37	chr9	140379167	140379167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcccacttgctgccctccGtggggagcccaagctggtgg	14	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:140379167G>A	uc004cnf.2	-	20	2481	c.2144C>T	c.(2143-2145)ACG>ATG	p.T715M	C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Translation_Start_Site|PNPLA7_uc004cne.1_Translation_Start_Site|PNPLA7_uc011mfa.1_Missense_Mutation_p.T123M|PNPLA7_uc010ncj.1_Missense_Mutation_p.T740M	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	715					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCTGCCCTCCGTGGGGAGCCC	0.672													A	140379167	G	A	140379167	3	1	94	1	0	0	0	0	1	0	0	0	12170	1145	40	1	1869	1	PNPLA7	9	140379167	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	6639	140379167	834264	1834	60967											
PNPLA7	375775	broad.mit.edu	37	chr9	140396151	140396151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggaacgtgcagaagcGccacccggccatccaacaga	11	15	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:140396151G>A	uc004cnf.2	-	14	1764	c.1427C>T	c.(1426-1428)GCG>GTG	p.A476V	C9orf167_uc011mew.1_Intron|PNPLA7_uc011mfa.1_Intron|PNPLA7_uc010ncj.1_Missense_Mutation_p.A501V	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	476	cNMP 2.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTGCAGAAGCGCCACCCGGCC	0.607													A	140396151	G	A	140396151	3	1	94	1	0	0	0	0	1	0	0	0	12170	1087	38	1	2610	1	PNPLA7	9	140396151	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	16984	140396151	817280	1835	60968											
EHMT1	79813	broad.mit.edu	37	chr9	140707883	140707883	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccccatcccctgtgtcaaCgccgtggacagcgagccatg	10	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:140707883C>T	uc011mfc.1	+	21	3118	c.3081C>T	c.(3079-3081)AAC>AAT	p.N1027N	EHMT1_uc004coe.2_5'Flank	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1027					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CCTGTGTCAACGCCGTGGACA	0.592													T	140707883	C	T	140707883	2	4	94	1	0	0	0	0	0	0	0	1	4983	535	19	1		1	EHMT1	9	140707883	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	311732	140707883	505548	1836	60969											
CACNA1B	774	broad.mit.edu	37	chr9	140852063	140852063	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcagtgctgaagagagcGgccaccaagaagagcagaaa	13	8	0	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:140852063G>A	uc004cog.2	+	10	1402	c.1257G>A	c.(1255-1257)GCG>GCA	p.A419A	CACNA1B_uc011mfd.1_5'UTR	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	419	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGAAGAGAGCGGCCACCAAGA	0.592													A	140852063	G	A	140852063	2	1	94	1	0	0	0	0	0	0	0	1	2539	1103	39	1		1	CACNA1B	9	140852063	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	144180	140852063	361368	1837	60970											
DIP2C	22982	broad.mit.edu	37	chr10	394683	394683	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtacaggcaaccataaaaCgctgctatcaggtctattcc	8	12	2	0	rs148872343		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:394683C>T	uc001ifp.2	-	26	3219	c.3129G>A	c.(3127-3129)GCG>GCA	p.A1043A	DIP2C_uc009xhi.1_Silent_p.A429A	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	1043						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AACCATAAAACGCTGCTATCA	0.527													T	394683	C	T	394683	2	4	94	1	0	0	0	0	0	0	0	1	4529	523	19	1		1	DIP2C	10	394683	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08		394683	135140064	1838	60971											
LARP4B	23185	broad.mit.edu	37	chr10	875436	875436	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagggaagtagaacgacgtCgcgtagcgctgctgggcata	17	8	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:875436C>T	uc001ifs.1	-	10	1055	c.1014G>A	c.(1012-1014)GCG>GCA	p.A338A		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	338							nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						AGAACGACGTCGCGTAGCGCT	0.532													T	875436	C	T	875436	2	4	94	1	0	0	0	0	0	0	0	1	8631	871	31	1		1	LARP4B	10	875436	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	480753	875436	134659311	1839	60972											
WDR37	22884	broad.mit.edu	37	chr10	1151106	1151106	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactgctgcacacaccccacCcagcggctcgtggtgacctc	9	19	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:1151106C>A	uc001igf.1	+	11	1175	c.1002C>A	c.(1000-1002)ACC>ACA	p.T334T	WDR37_uc009xhm.1_Silent_p.T335T|WDR37_uc009xhn.1_RNA|WDR37_uc001igg.1_RNA	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	334	WD 4.										0		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CACACCCCACCCAGCGGCTCG	0.592													A	1151106	C	A	1151106	2	1	94	1	0	0	0	0	0	0	0	1	17288	610	22	5		5	WDR37	10	1151106	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	275670	1151106	134383641	1840	60973											
ADARB2	105	broad.mit.edu	37	chr10	1405277	1405277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtggccgggcatctggatGtcgaacagctcctgcagtgc	15	12	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:1405277G>A	uc009xhq.2	-	3	1397	c.1023C>T	c.(1021-1023)GAC>GAT	p.D341D		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	341	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCATCTGGATGTCGAACAGCT	0.756													A	1405277	G	A	1405277	2	1	94	1	0	0	0	0	0	0	0	1	283	1368	48	4		4	ADARB2	10	1405277	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	254171	1405277	134129470	1841	60974											
IL2RA	3559	broad.mit.edu	37	chr10	6066311	6066311	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacttgtttcgttgtgttcCgagtggctagaaaatataga	10	6	1	2	rs139340259	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:6066311C>A	uc001iiz.1	-	3	422	c.263G>T	c.(262-264)CGG>CTG	p.R88L	IL2RA_uc009xih.1_Missense_Mutation_p.R88L|IL2RA_uc001ija.1_Missense_Mutation_p.R50L	NM_000417	NP_000408	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha chain precursor	88	Extracellular (Potential).				cell proliferation	integral to membrane	interleukin-2 receptor activity			ovary(1)|skin(1)	2					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CGTTGTGTTCCGAGTGGCTAG	0.413													A	6066311	C	A	6066311	3	1	94	1	0	0	0	0	1	0	0	0	7686	652	23	5	579	5	IL2RA	10	6066311	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4661034	6066311	129468436	1842	60975											
KIN	22944	broad.mit.edu	37	chr10	7801876	7801876	+	Frame_Shift_Del	DEL	A	A	-													ttcaatgacgatagtagctgAaaaagtcttctcattgatgg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:7801876delA	uc001ijt.2	-	12	1144	c.1096delT	c.(1096-1098)TCAfs	p.S366fs	KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Intron|KIN_uc010qba.1_Frame_Shift_Del_p.S260fs	NM_012311	NP_036443	O60870	KIN17_HUMAN	HsKin17 protein	366	C-terminal subdomain B.				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						ATAGTAGCTGAAAAAGTCTTC	0.303													-	7801876	A	-	7801876	7	5	94	1	0	1	0	1	0	0	0	0	8315	246	9	0	93	0	KIN	10	7801876	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	1735565	7801876	127732871	1843	60976											
GATA3	2625	broad.mit.edu	37	chr10	8100728	8100728	+	Frame_Shift_Del	DEL	C	C	-													gagtacagctccggactcttCccccccagcagcctgctggg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:8100728delC	uc001ika.2	+	3	1259	c.702delC	c.(700-702)TTCfs	p.F234fs	GATA3_uc001ijz.2_Frame_Shift_Del_p.F234fs	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	234					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22						CCGGACTCTTCCCCCCCAGCA	0.697			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						-	8100728	C	-	8100728	7	5	94	1	0	1	0	1	0	0	0	0	6255	854	30	0	708	0	GATA3	10	8100728	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	298852	8100728	127434019	1844	60977											
UPF2	26019	broad.mit.edu	37	chr10	11998338	11998338	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccattcctaatcgaataTcttctaacactccatccaca	1	16	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:11998338T>C	uc001ila.2	-	12	3029	c.2555A>G	c.(2554-2556)GAT>GGT	p.D852G	UPF2_uc001ilb.2_Missense_Mutation_p.D852G|UPF2_uc001ilc.2_Missense_Mutation_p.D852G|UPF2_uc009xiz.1_Missense_Mutation_p.D852G	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	852	Binds to UPF3B.|Sufficient for interaction with UPF3A and UPF3B.|MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.			ED->KR: Does not abolish interaction with UPF3B. Does not abolish interaction with UPF3B; when associated with D-854.	mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				TAATCGAATATCTTCTAACAC	0.383													C	11998338	T	C	11998338	3	2	94	1	0	0	0	0	1	0	0	0	17001	1435	50	3	1303	3	UPF2	10	11998338	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	3897610	11998338	123536409	1845	60978											
FRMD4A	55691	broad.mit.edu	37	chr10	13698668	13698668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacatctggggcatcctgGtgaccctgctgtgcgccacg	13	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:13698668G>A	uc001ims.2	-	22	3273	c.2921C>T	c.(2920-2922)ACC>ATC	p.T974I	FRMD4A_uc009xjf.1_Missense_Mutation_p.T974I	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	974	Ser-rich.					cytoplasm|cytoskeleton	binding			ovary(1)|skin(1)|pancreas(1)	3						GGGCATCCTGGTGACCCTGCT	0.667													A	13698668	G	A	13698668	3	1	94	1	0	0	0	0	1	0	0	0	6051	1261	44	4	210	4	FRMD4A	10	13698668	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1700330	13698668	121836079	1846	60979											
CDNF	441549	broad.mit.edu	37	chr10	14879842	14879842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgctcaccttcacagtcgGcccctggccgccccccggcc	9	23	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:14879842G>A	uc001inb.1	-	1	142	c.104C>T	c.(103-105)GCC>GTC	p.A35V	CDNF_uc010qbv.1_Missense_Mutation_p.A35V|CDNF_uc001inc.1_Intron|HSPA14_uc001ind.2_5'Flank|HSPA14_uc001ine.2_5'Flank|HSPA14_uc010qbw.1_5'Flank|HSPA14_uc001inf.2_5'Flank	NM_001029954	NP_001025125	Q49AH0	CDNF_HUMAN	arginine-rich, mutated in early stage	35						extracellular region	growth factor activity				0						TTCACAGTCGGCCCCTGGCCG	0.692													A	14879842	G	A	14879842	3	1	94	1	0	0	0	0	1	0	0	0	3168	1203	42	2	475	2	CDNF	10	14879842	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1181174	14879842	120654905	1847	60980											
CUBN	8029	broad.mit.edu	37	chr10	16932371	16932371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcttagggctacttacgGctaacaaaggacgcggagaa	13	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:16932371G>A	uc001ioo.2	-	55	8806	c.8754C>T	c.(8752-8754)AGC>AGT	p.S2918S	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Silent_p.S274S	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2918	CUB 21.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCTACTTACGGCTAACAAAGG	0.567													A	16932371	G	A	16932371	2	1	94	1	0	0	0	0	0	0	0	1	4051	1217	42	2		2	CUBN	10	16932371	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2052529	16932371	118602376	1848	60981											
DNAJC1	64215	broad.mit.edu	37	chr10	22048227	22048227	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggctcctctgcagaccgagCtctctcttttctcaggctct	8	16	5	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:22048227C>A	uc001irc.2	-	11	1755	c.1468G>T	c.(1468-1470)GCT>TCT	p.A490S	DNAJC1_uc001ird.2_Missense_Mutation_p.A376S	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	490	Cytoplasmic (By similarity).				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			lung(1)	1		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GCAGACCGAGCTCTCTCTTTT	0.547													A	22048227	C	A	22048227	3	1	94	1	0	0	0	0	1	0	0	0	4628	797	28	5	204	5	DNAJC1	10	22048227	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	5115856	22048227	113486520	1849	60982											
DNAJC1	64215	broad.mit.edu	37	chr10	22208818	22208818	+	Frame_Shift_Del	DEL	T	T	-													ccacactcttgctgccagtcTtttttttcttttctctcttt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:22208817_22208817CT>C	uc001irc.3	-	4	866	c.579_579AG>G	c.(577-579)aagfs	p.K193fs	DNAJC1_uc021pnz.1_Non-coding_Transcript	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 1 (DNAJC1), mRNA.	193					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TGCTGCCAGTCTTTTTTTTCT	0.303													-	22208818	T	-	22208818	7	5	94	1	0	1	0	1	0	0	0	0	4628	1609	56	0	1118	0	DNAJC1	10	22208818	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	160591	22208818	113325929	1850	60983											
ARMC3	219681	broad.mit.edu	37	chr10	23292307	23292307	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggctatttgtcatcaagTaacataattaacgatggatt	7	6	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:23292307T>C	uc001irm.3	+	13	1778	c.1695T>C	c.(1693-1695)AGT>AGC	p.S565S	ARMC3_uc010qcv.1_Silent_p.S565S|ARMC3_uc010qcw.1_Silent_p.S302S	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	565							binding				0						TGTCATCAAGTAACATAATTA	0.333													C	23292307	T	C	23292307	2	2	94	1	0	0	0	0	0	0	0	1	952	1635	57	3		3	ARMC3	10	23292307	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1083489	23292307	112242440	1851	60984											
PTF1A	256297	broad.mit.edu	37	chr10	23482702	23482702	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acactctctctcatggactgAtgaaaaacaactcaaggaac	6	11	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:23482702A>T	uc001irp.2	+	2	854	c.854A>T	c.(853-855)GAT>GTT	p.D285V		NM_178161	NP_835455	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	285					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				pancreas(1)|skin(1)	2						TCATGGACTGATGAAAAACAA	0.498													T	23482702	A	T	23482702	3	4	94	1	0	0	0	0	1	0	0	0	12740	333	12	5	860	5	PTF1A	10	23482702	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	190395	23482702	112052045	1852	60985											
KIAA1217	56243	broad.mit.edu	37	chr10	24825774	24825774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcccgggctgacagtcaCgttaaagacactaggtcggg	12	12	1	2	rs138675828	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:24825774C>T	uc001iru.3	+	17	3889	c.3486C>T	c.(3484-3486)CAC>CAT	p.H1162H	KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Silent_p.H1126H|KIAA1217_uc010qcz.1_Silent_p.H1127H|KIAA1217_uc001irw.2_Silent_p.H845H|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Silent_p.H845H|KIAA1217_uc001iry.2_Silent_p.H845H	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1162					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						CTGACAGTCACGTTAAAGACA	0.488													T	24825774	C	T	24825774	2	4	94	1	0	0	0	0	0	0	0	1	8216	535	19	1		1	KIAA1217	10	24825774	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1343072	24825774	110708973	1853	60986											
ARHGAP21	57584	broad.mit.edu	37	chr10	24889807	24889807	+	Frame_Shift_Del	DEL	C	C	-													tgtacaggtaaagtgaatgaCcccgaaggacaacatacatc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:24889806_24889806AC>A	uc001isb.2	-	13	3388	c.2901_2901GT>T	c.(2899-2901)ggtfs	p.G967fs	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Frame_Shift_Del_p.G967fs|ARHGAP21_uc010qdc.1_Frame_Shift_Del_p.G802fs	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	966	Interaction with ARF1 and ARF6.|PH.				signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AAAGTGAATGACCCCGAAGGA	0.423													-	24889807	C	-	24889807	7	5	94	1	0	1	0	1	0	0	0	0	871	507	18	0	3028	0	ARHGAP21	10	24889807	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	64033	24889807	110644940	1854	60987											
ENKUR	219670	broad.mit.edu	37	chr10	25273739	25273739	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgtttcatttcttcttcCagcctctgcttgcggatctt	7	11	5	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:25273739C>T	uc001isg.1	-	5	855	c.690G>A	c.(688-690)CTG>CTA	p.L230L	ENKUR_uc001ish.1_Silent_p.L168L	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	enkurin	230						cilium|flagellum	calmodulin binding|SH3 domain binding				0						TTTCTTCTTCCAGCCTCTGCT	0.378													T	25273739	C	T	25273739	2	4	94	1	0	0	0	0	0	0	0	1	5120	581	21	4		4	ENKUR	10	25273739	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	383932	25273739	110261008	1855	60988											
GPR158	57512	broad.mit.edu	37	chr10	25464593	25464593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaggaggtgcccatggacGtggcctcttacctctacacc	11	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:25464593G>A	uc001isj.2	+	1	304	c.244G>A	c.(244-246)GTG>ATG	p.V82M	LOC100128811_uc010qde.1_Intron	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	82	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						GCCCATGGACGTGGCCTCTTA	0.687													A	25464593	G	A	25464593	3	1	94	1	0	0	0	0	1	0	0	0	6663	1145	40	1	246	1	GPR158	10	25464593	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	190854	25464593	110070154	1856	60989											
MYO3A	53904	broad.mit.edu	37	chr10	26385330	26385330	+	Frame_Shift_Del	DEL	T	T	-													tggagaaaaaaattttcataTtttttactacatttatgctg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:26385329_26385329AT>A	uc001isn.2	+	15	1942	c.1582_1582AT>A	c.(1582-1584)attfs	p.I528fs	MYO3A_uc009xko.1_Frame_Shift_Del_p.I528fs|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Frame_Shift_Del_p.I528fs	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	528	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAATTTTCATATTTTTTACTA	0.318													-	26385330	T	-	26385330	7	5	94	1	0	1	0	1	0	0	0	0	10076	1493	52	0	1637	0	MYO3A	10	26385330	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	920737	26385330	109149417	1857	60990											
PTCHD3	374308	broad.mit.edu	37	chr10	27687378	27687378	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaatattgttcataaaagTattcttctcattaggatctt	6	5	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:27687378T>C	uc001itu.2	-	4	2267	c.2149A>G	c.(2149-2151)ACT>GCT	p.T717A		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	717					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						TTCATAAAAGTATTCTTCTCA	0.284													C	27687378	T	C	27687378	3	2	94	1	0	0	0	0	1	0	0	0	12734	1638	57	3	158	3	PTCHD3	10	27687378	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1302048	27687378	107847369	1858	60991											
SVIL	6840	broad.mit.edu	37	chr10	29760116	29760116	+	Frame_Shift_Del	DEL	C	C	-													ctccccgagtgcaccaccatCcccccctggaaacactgcag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:29760115_29760115TC>T	uc001iut.1	-	30	6340	c.5587_5587GA>A	c.(5587-5589)atgfs	p.M1863fs	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Frame_Shift_Del_p.M777fs|SVIL_uc001iuu.1_Frame_Shift_Del_p.M1437fs	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1863					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCACCACCATCCCCCCCTGG	0.527													-	29760116	C	-	29760116	7	5	94	1	0	1	0	1	0	0	0	0	15418	842	30	0	1090	0	SVIL	10	29760116	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	2072738	29760116	105774631	1859	60992											
CCDC7	221016	broad.mit.edu	37	chr10	32740643	32740643	+	Frame_Shift_Del	DEL	G	G	-													cagcattaactactaaaaaaGgactacataatttaccatta							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:32740643delG	uc001iwj.2	+	2	643	c.73delG	c.(73-75)GGAfs	p.G25fs	CCDC7_uc009xlu.1_RNA|CCDC7_uc001iwk.2_Frame_Shift_Del_p.G25fs|CCDC7_uc009xlv.2_RNA|CCDC7_uc009xlw.1_RNA|CCDC7_uc009xlx.1_Frame_Shift_Del_p.G25fs|CCDC7_uc009xly.1_RNA	NM_145023	NP_659460	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	25											0		Breast(68;0.000207)|Prostate(175;0.0107)				TACTAAAAAAGGACTACATAA	0.343													-	32740643	G	-	32740643	7	5	94	1	0	1	0	1	0	0	0	0	2842	1001	35	0	75	0	CCDC7	10	32740643	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	2980527	32740643	102794104	1860	60993											
ITGB1	3688	broad.mit.edu	37	chr10	33200928	33200928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaacacactgtccgcagaCgcactctccattgttactgc	6	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:33200928C>T	uc001iws.3	-	12	1730	c.1594G>A	c.(1594-1596)GTC>ATC	p.V532I	ITGB1_uc001iwp.3_Missense_Mutation_p.V532I|ITGB1_uc001iwq.3_Missense_Mutation_p.V532I|ITGB1_uc001iwr.3_Missense_Mutation_p.V532I|ITGB1_uc001iwt.3_Missense_Mutation_p.V532I|ITGB1_uc001iwu.1_Missense_Mutation_p.V532I	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	532	Extracellular (Potential).|Cysteine-rich tandem repeats.|II.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TGTCCGCAGACGCACTCTCCA	0.398													T	33200928	C	T	33200928	3	4	94	1	0	0	0	0	1	0	0	0	7890	536	19	1	1060	1	ITGB1	10	33200928	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	460285	33200928	102333819	1861	60994											
PARD3	56288	broad.mit.edu	37	chr10	34400290	34400290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcatctgctgctccttcCgcctctgttcctggcgaagg	9	15	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:34400290C>T	uc010qej.1	-	25	3878	c.3878G>A	c.(3877-3879)CGG>CAG	p.R1293Q	PARD3_uc010qek.1_Missense_Mutation_p.R1290Q|PARD3_uc010qel.1_Missense_Mutation_p.R1256Q|PARD3_uc010qem.1_Missense_Mutation_p.R1277Q|PARD3_uc010qen.1_Missense_Mutation_p.R1247Q|PARD3_uc010qeo.1_Missense_Mutation_p.R1210Q|PARD3_uc010qep.1_Missense_Mutation_p.R1203Q|PARD3_uc010qeq.1_Missense_Mutation_p.R1181Q|uc001ixe.1_5'Flank	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	1293	Potential.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)				CTGCTCCTTCCGCCTCTGTTC	0.592													T	34400290	C	T	34400290	3	4	94	1	0	0	0	0	1	0	0	0	11443	652	23	1	196	1	PARD3	10	34400290	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1199362	34400290	101134457	1862	60995											
FZD8	8325	broad.mit.edu	37	chr10	35928906	35928906	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaccagcggcgccagcacGaagccgcgcaggttgtccag	14	14	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:35928906G>A	uc001iyz.1	-	1	1457	c.1452C>T	c.(1450-1452)TTC>TTT	p.F484F		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	484	Helical; Name=5; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0						GCGCCAGCACGAAGCCGCGCA	0.652													A	35928906	G	A	35928906	2	1	94	1	0	0	0	0	0	0	0	1	6136	1049	37	1		1	FZD8	10	35928906	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1528616	35928906	99605841	1863	60996											
ZNF248	57209	broad.mit.edu	37	chr10	38121593	38121593	+	Frame_Shift_Del	DEL	A	A	-													atctgagatctcttatttgtAaaaaatgctgcctcatcatg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:38121593delA	uc001izd.1	-	6	1189	c.690delT	c.(688-690)TTTfs	p.F230fs	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Frame_Shift_Del_p.F230fs	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCTTATTTGTAAAAAATGCTG	0.363													-	38121593	A	-	38121593	7	5	94	1	0	1	0	1	0	0	0	0	17790	359	13	0	1053	0	ZNF248	10	38121593	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	2192687	38121593	97413154	1864	60997											
BMS1	9790	broad.mit.edu	37	chr10	43325839	43325839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaaggacaggcggagacCggccgtcatacgcgagcctc	14	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:43325839C>T	uc001jaj.2	+	22	3945	c.3587C>T	c.(3586-3588)CCG>CTG	p.P1196L		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	1196					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						AGGCGGAGACCGGCCGTCATA	0.517													T	43325839	C	T	43325839	3	4	94	1	0	0	0	0	1	0	0	0	1472	652	23	1	3669	1	BMS1	10	43325839	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	5204246	43325839	92208908	1865	60998											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43678785	43678785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgacctcattgtgattcGgactccggttcctggtcttt	11	10	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:43678785G>A	uc001jan.2	+	8	1759	c.1424G>A	c.(1423-1425)CGG>CAG	p.R475Q		NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate	475	Lumenal (Potential).				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			ovary(1)	1						ATTGTGATTCGGACTCCGGTT	0.478													A	43678785	G	A	43678785	3	1	94	1	0	0	0	0	1	0	0	0	3939	1116	39	1	1450	1	CSGALNACT2	10	43678785	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	352946	43678785	91855962	1866	60999											
RASGEF1A	221002	broad.mit.edu	37	chr10	43701396	43701396	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atagtccaccgtgggaacaaGgtgctccatcagggcctcca	11	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:43701396G>T	uc001jap.1	-	2	250	c.169C>A	c.(169-171)CTT>ATT	p.L57I	RASGEF1A_uc001jao.1_Missense_Mutation_p.L65I	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	57	N-terminal Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						GTGGGAACAAGGTGCTCCATC	0.632													T	43701396	G	T	43701396	3	4	94	1	0	0	0	0	1	0	0	0	13069	1000	35	5	1324	5	RASGEF1A	10	43701396	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	22611	43701396	91833351	1867	61000											
SYT15	83849	broad.mit.edu	37	chr10	46969272	46969272	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagttgggtcctagcatgCggctggcagggcctgtcccg	15	13	1	0	rs145402665	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:46969272C>T	uc001jea.2	-	2	342	c.189G>A	c.(187-189)CCG>CCA	p.P63P	SYT15_uc001jdz.2_Silent_p.P63P|SYT15_uc001jeb.2_Intron|SYT15_uc010qfp.1_5'Flank	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	synaptotagmin XV isoform a	63	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0						TCCTAGCATGCGGCTGGCAGG	0.617													T	46969272	C	T	46969272	2	4	94	1	0	0	0	0	0	0	0	1	15468	755	27	1		1	SYT15	10	46969272	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3267876	46969272	88565475	1868	61001											
RBP3	5949	broad.mit.edu	37	chr10	48388581	48388581	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagctgttgccataccagcCgcaccagctgtggccccacg	10	18	0	0	rs145140816		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:48388581C>A	uc001jez.2	-	1	2411	c.2297G>T	c.(2296-2298)CGG>CTG	p.R766L		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	766	4 X approximate tandem repeats.|3.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	CCATACCAGCCGCACCAGCTG	0.637													A	48388581	C	A	48388581	3	1	94	1	0	0	0	0	1	0	0	0	13157	652	23	5	1462	5	RBP3	10	48388581	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1419309	48388581	87146166	1869	61002											
AGAP8	728404	broad.mit.edu	37	chr10	48902297	48902297	+	Frame_Shift_Del	DEL	G	G	-													tttttattggcatgaggggaGgggggtgggttgagcttggg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:48902296_48902296AG>A	uc009xnv.2	-	2	683	c.577_577CT>T	c.(577-579)tccfs	p.S193fs		NM_001077686	NP_001071154	Q5SRD3	AGAP8_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 (AGAP8), mRNA.	371					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						GCATGAGGGGAGGGGGGTGGG	0.522													-	48902297	G	-	48902297	7	5	94	1	0	1	0	1	0	0	0	0	374	1015	35	0		0	AGAP8	10	48902297	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	513716	48902297	86632450	1870	61003											
FRMPD2	143162	broad.mit.edu	37	chr10	49409381	49409381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgaatctgtgacaaatGtgtgcttcttcccagtgaca	10	9	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:49409381G>A	uc001jgi.2	-	15	1951	c.1844C>T	c.(1843-1845)ACA>ATA	p.T615I	FRMPD2_uc001jgh.2_Missense_Mutation_p.T583I|FRMPD2_uc001jgj.2_Missense_Mutation_p.T593I	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	615	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		TGTGACAAATGTGTGCTTCTT	0.473													A	49409381	G	A	49409381	3	1	94	1	0	0	0	0	1	0	0	0	6058	1377	48	4	2145	4	FRMPD2	10	49409381	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	507084	49409381	86125366	1871	61004											
MAPK8	5599	broad.mit.edu	37	chr10	49635188	49635188	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaatagaagagtggaaaggTacattcgtcagattcttaga	10	5	2	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:49635188T>C	uc009xnz.2	+	10	1284	c.1060_splice	c.e10+2	p.E354_splice	MAPK8_uc001jgl.2_Splice_Site_p.E354_splice|MAPK8_uc001jgm.2_Splice_Site_p.E354_splice|MAPK8_uc001jgo.2_Splice_Site_p.E354_splice|MAPK8_uc009xoa.2_Splice_Site_p.E278_splice|MAPK8_uc001jgn.2_Splice_Site_p.E354_splice|MAPK8_uc010qgk.1_Splice_Site_p.E354_splice|MAPK8_uc001jgp.2_Splice_Site_p.E354_splice|MAPK8_uc001jgq.2_Splice_Site_p.E354_splice	NM_139047	NP_620635	P45983	MK08_HUMAN	mitogen-activated protein kinase 8 isoform JNK1						activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		AGTGGAAAGGTACATTCGTCA	0.368													C	49635188	T	C	49635188	5	2	94	1	0	0	0	0	0	0	1	0	9283	1652	57	3	1172	3	MAPK8	10	49635188	Splice_Site	SNP	T	TCGA-BR-8487-01A-11D-2394-08	225807	49635188	85899559	1872	61005											
C10orf71	118461	broad.mit.edu	37	chr10	50530631	50530631	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacagacgcgttcagcgActcctccagcatcggcagcg	12	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:50530631A>G	uc010qgp.1	+	3	380	c.41A>G	c.(40-42)GAC>GGC	p.D14G		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	14											0						GCGTTCAGCGACTCCTCCAGC	0.547													G	50530631	A	G	50530631	3	3	94	1	0	0	0	0	1	0	0	0	1614	275	10	3	43	3	C10orf71	10	50530631	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	895443	50530631	85004116	1873	61006											
ERCC6	2074	broad.mit.edu	37	chr10	50680508	50680508	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcctattctccatgctcgCtcccgggcctgcaacagaga	10	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:50680508C>A	uc001jhs.3	-	16	2992	c.2838G>T	c.(2836-2838)GAG>GAT	p.E946D	ERCC6_uc009xod.2_Missense_Mutation_p.E106D|ERCC6_uc010qgr.1_Missense_Mutation_p.E316D|ERCC6_uc001jhr.3_Missense_Mutation_p.E314D	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	946	Helicase C-terminal.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						TCCATGCTCGCTCCCGGGCCT	0.517								Direct_reversal_of_damage|NER					A	50680508	C	A	50680508	3	1	94	1	0	0	0	0	1	0	0	0	5217	796	28	5	1667	5	ERCC6	10	50680508	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	149877	50680508	84854239	1874	61007											
PGBD3	267004	broad.mit.edu	37	chr10	50723502	50723502	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccctgtttgactatcacAtgatttatgccatcataacg	5	10	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:50723502A>G	uc001jht.2	-	2	1914	c.1659T>C	c.(1657-1659)CAT>CAC	p.H553H	ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Silent_p.H1021H|PGBD3_uc001jhu.2_Silent_p.H1021H	NM_170753	NP_736609	Q8N328	PGBD3_HUMAN	hypothetical protein LOC267004	553										pancreas(1)|breast(1)|skin(1)	3						TGACTATCACATGATTTATGC	0.423													G	50723502	A	G	50723502	2	3	94	1	0	0	0	0	0	0	0	1	11782	214	8	3		3	PGBD3	10	50723502	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	42994	50723502	84811245	1875	61008											
OGDHL	55753	broad.mit.edu	37	chr10	50947717	50947717	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccctcaccatgccttccAtgccatggggcagcagcagc	10	17	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:50947717A>G	uc001jie.2	-	17	2451	c.2309T>C	c.(2308-2310)ATG>ACG	p.M770T	OGDHL_uc009xog.2_Missense_Mutation_p.M797T|OGDHL_uc010qgt.1_Missense_Mutation_p.M713T|OGDHL_uc010qgu.1_Missense_Mutation_p.M561T	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	770					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						CATGCCTTCCATGCCATGGGG	0.642													G	50947717	A	G	50947717	3	3	94	1	0	0	0	0	1	0	0	0	10840	217	8	3	751	3	OGDHL	10	50947717	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	224215	50947717	84587030	1876	61009											
OGDHL	55753	broad.mit.edu	37	chr10	50955200	50955200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgatgttccggttggtgaCgcggttgatcctctcatggt	14	8	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:50955200C>T	uc001jie.2	-	9	1184	c.1042G>A	c.(1042-1044)GTC>ATC	p.V348I	OGDHL_uc009xog.2_Missense_Mutation_p.V375I|OGDHL_uc010qgt.1_Missense_Mutation_p.V291I|OGDHL_uc010qgu.1_Missense_Mutation_p.V139I|OGDHL_uc009xoh.2_Missense_Mutation_p.V139I	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	348					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						CGGTTGGTGACGCGGTTGATC	0.582													T	50955200	C	T	50955200	3	4	94	1	0	0	0	0	1	0	0	0	10840	536	19	1	2050	1	OGDHL	10	50955200	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	7483	50955200	84579547	1877	61010											
MBL2	4153	broad.mit.edu	37	chr10	54527917	54527917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagatagggaactcacagaCggccagatgggaggtggagc	16	8	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:54527917C>T	uc001jjt.2	-	4	792	c.727G>A	c.(727-729)GTC>ATC	p.V243I		NM_000242	NP_000233	P11226	MBL2_HUMAN	soluble mannose-binding lectin precursor	243	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			ovary(1)	1						AACTCACAGACGGCCAGATGG	0.478													T	54527917	C	T	54527917	3	4	94	1	0	0	0	0	1	0	0	0	9350	536	19	1	23	1	MBL2	10	54527917	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3572717	54527917	81006830	1878	61011											
PCDH15	65217	broad.mit.edu	37	chr10	56138546	56138546	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaaaaaatcactaacatctCtatccagaactcttccggtg	4	11	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:56138546C>A	uc001jju.1	-	4	709	c.314G>T	c.(313-315)AGA>ATA	p.R105I	PCDH15_uc010qhq.1_Missense_Mutation_p.R110I|PCDH15_uc010qhr.1_Missense_Mutation_p.R105I|PCDH15_uc010qhs.1_Missense_Mutation_p.R110I|PCDH15_uc010qht.1_Missense_Mutation_p.R105I|PCDH15_uc010qhu.1_Missense_Mutation_p.R105I|PCDH15_uc001jjv.1_Missense_Mutation_p.R83I|PCDH15_uc010qhv.1_Missense_Mutation_p.R105I|PCDH15_uc010qhw.1_Missense_Mutation_p.R105I|PCDH15_uc010qhx.1_Missense_Mutation_p.R105I|PCDH15_uc010qhy.1_Missense_Mutation_p.R110I|PCDH15_uc010qhz.1_Missense_Mutation_p.R105I|PCDH15_uc010qia.1_Missense_Mutation_p.R83I|PCDH15_uc010qib.1_Missense_Mutation_p.R83I|PCDH15_uc001jjw.2_Missense_Mutation_p.R105I	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	105	Cadherin 1.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				ACTAACATCTCTATCCAGAAC	0.308										HNSCC(58;0.16)			A	56138546	C	A	56138546	3	1	94	1	0	0	0	0	1	0	0	0	11511	913	32	5	7317	5	PCDH15	10	56138546	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1610629	56138546	79396201	1879	61012											
ANK3	288	broad.mit.edu	37	chr10	61835941	61835941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctaattggagatgccacGtcactaatggatttaactga	9	7	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:61835941G>A	uc001jky.2	-	37	4890	c.4698C>T	c.(4696-4698)GAC>GAT	p.D1566D	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1566	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GAGATGCCACGTCACTAATGG	0.428													A	61835941	G	A	61835941	2	1	94	1	0	0	0	0	0	0	0	1	622	1136	40	1		1	ANK3	10	61835941	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	5697395	61835941	73698806	1880	61013											
ANK3	288	broad.mit.edu	37	chr10	61955986	61955986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaatgtgcagctacatgcaGtggtgttagcccgctctgaa	12	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:61955986G>A	uc001jky.2	-	16	1996	c.1804C>T	c.(1804-1806)CTG>TTG	p.L602L	ANK3_uc010qih.1_Silent_p.L585L|ANK3_uc001jkz.3_Silent_p.L596L|ANK3_uc001jlb.1_Silent_p.L131L|ANK3_uc001jlc.1_Silent_p.L263L	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	602	ANK 17.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GCTACATGCAGTGGTGTTAGC	0.458													A	61955986	G	A	61955986	2	1	94	1	0	0	0	0	0	0	0	1	622	1020	36	4		4	ANK3	10	61955986	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	120045	61955986	73578761	1881	61014											
ANK3	288	broad.mit.edu	37	chr10	62039340	62039340	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccattttttatgtagtcgaGggccttttcaaggtgtccag	10	8	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:62039340G>T	uc001jky.2	-	2	364	c.172C>A	c.(172-174)CTC>ATC	p.L58I	ANK3_uc010qih.1_Missense_Mutation_p.L41I|ANK3_uc001jkz.3_Missense_Mutation_p.L52I|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	58					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						ATGTAGTCGAGGGCCTTTTCA	0.333													T	62039340	G	T	62039340	3	4	94	1	0	0	0	0	1	0	0	0	622	1000	35	5	13462	5	ANK3	10	62039340	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	83354	62039340	73495407	1882	61015											
ZNF365	22891	broad.mit.edu	37	chr10	64148220	64148220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggttcaagggaaagcccGgctccaggactttattgaga	14	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:64148220G>A	uc001jmc.2	+	3	1124	c.809G>A	c.(808-810)CGG>CAG	p.R270Q	ZNF365_uc001jly.3_Missense_Mutation_p.R285Q|ZNF365_uc001jmb.3_Missense_Mutation_p.R270Q|ZNF365_uc001jlz.3_Missense_Mutation_p.R270Q|ZNF365_uc001jma.3_RNA	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform C	Error:Variant_position_missing_in_Q70YC4_after_alignment										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGGAAAGCCCGGCTCCAGGAC	0.498													A	64148220	G	A	64148220	3	1	94	1	0	0	0	0	1	0	0	0	17866	1116	39	1	815	1	ZNF365	10	64148220	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2108880	64148220	71386527	1883	61016											
HERC4	26091	broad.mit.edu	37	chr10	69773784	69773784	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaatatgacagaacttaccAatatctggtagacactgccc	6	10	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:69773784A>G	uc001jng.3	-	9	1379	c.1068T>C	c.(1066-1068)ATT>ATC	p.I356I	HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Silent_p.I356I|HERC4_uc009xpr.2_Silent_p.I356I|HERC4_uc001jni.3_Silent_p.I100I|HERC4_uc001jnj.2_Silent_p.I356I	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	356	RCC1 7.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						AGAACTTACCAATATCTGGTA	0.363													G	69773784	A	G	69773784	2	3	94	1	0	0	0	0	0	0	0	1	7060	144	5	3		3	HERC4	10	69773784	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	5625564	69773784	65760963	1884	61017											
DNA2	1763	broad.mit.edu	37	chr10	70178861	70178861	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttccttggtatttgtctActgtattaacttcgaccatc	5	12	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:70178861A>G	uc001jof.2	-	19	3155	c.3155T>C	c.(3154-3156)GTA>GCA	p.V1052A	DNA2_uc001jog.1_Missense_Mutation_p.V728A|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	966					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						GTATTTGTCTACTGTATTAAC	0.363													G	70178861	A	G	70178861	3	3	94	1	0	0	0	0	1	0	0	0	4596	391	14	3	297	3	DNA2	10	70178861	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	405077	70178861	65355886	1885	61018											
DNA2	1763	broad.mit.edu	37	chr10	70196956	70196956	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacaaactatctttacatgTtccattctaatcaggtttcc	3	11	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:70196956T>C	uc001jof.2	-	10	1716	c.1716A>G	c.(1714-1716)GAA>GAG	p.E572E	DNA2_uc001jog.1_Silent_p.E486E|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	486					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						TCTTTACATGTTCCATTCTAA	0.353													C	70196956	T	C	70196956	2	2	94	1	0	0	0	0	0	0	0	1	4596	1722	60	3		3	DNA2	10	70196956	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	18095	70196956	65337791	1886	61019											
DDX50	79009	broad.mit.edu	37	chr10	70706267	70706267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaggtggtcgatctggcGgccggtcaggtagacagagt	18	8	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:70706267G>A	uc001jou.2	+	15	2202	c.2095G>A	c.(2095-2097)GGC>AGC	p.G699S	DDX50_uc010qjc.1_Intron	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	nucleolar protein GU2	699	Arg-rich.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1						TCGATCTGGCGGCCGGTCAGG	0.522													A	70706267	G	A	70706267	3	1	94	1	0	0	0	0	1	0	0	0	4368	1116	39	1	2153	1	DDX50	10	70706267	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	509311	70706267	64828480	1887	61020											
KIAA1279	26128	broad.mit.edu	37	chr10	70748753	70748753	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcggccctgcgcctgaGgacgaggatgagcggcctga	16	13	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:70748753G>A	uc001joy.2	+	1	261	c.165G>A	c.(163-165)GAG>GAA	p.E55E		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	KIF1 binding protein	55					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			ovary(1)	1						CTGCGCCTGAGGACGAGGATG	0.677											OREG0020215	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	70748753	G	A	70748753	2	1	94	1	0	0	0	0	0	0	0	1	8221	991	35	4		4	KIAA1279	10	70748753	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	42486	70748753	64785994	1888	61021											
COL13A1	1305	broad.mit.edu	37	chr10	71654444	71654444	+	Frame_Shift_Del	DEL	A	A	-													tttgtagggaccccagggacAaaaaggagaaaaggtaagag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:71654443_71654443CA>C	uc001jql.3	+	10	1152	c.616_616CA>C	c.(616-618)caafs	p.Q206fs	COL13A1_uc021prz.1_Frame_Shift_Del_p.Q206fs|COL13A1_uc021psa.1_Frame_Shift_Del_p.Q168fs|COL13A1_uc021psb.1_Frame_Shift_Del_p.Q177fs|COL13A1_uc001jqk.2_Frame_Shift_Del_p.Q206fs|COL13A1_uc021psc.1_Frame_Shift_Del_p.Q206fs|COL13A1_uc021psd.1_Frame_Shift_Del_p.Q206fs|COL13A1_uc010qjf.2_Frame_Shift_Del_p.Q168fs|COL13A1_uc021pse.1_Frame_Shift_Del_p.Q177fs|COL13A1_uc021psf.1_Frame_Shift_Del_p.Q206fs|COL13A1_uc021psg.1_Frame_Shift_Del_p.Q206fs|COL13A1_uc021psh.1_Frame_Shift_Del_p.Q206fs	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	206	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	ACCCCAGGGACAAAAAGGAGA	0.473													-	71654444	A	-	71654444	7	5	94	1	0	1	0	1	0	0	0	0	3670	130	5	0	659	0	COL13A1	10	71654444	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	905691	71654444	63880303	1889	61022											
TYSND1	219743	broad.mit.edu	37	chr10	71902574	71902574	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgagggcccgcaagactggcCaaagacgccaaagcccacca	11	16	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:71902574C>A	uc001jqr.2	-	3	1487	c.1333G>T	c.(1333-1335)GGC>TGC	p.G445C	TYSND1_uc001jqq.2_RNA|TYSND1_uc001jqs.2_Intron|TYSND1_uc001jqt.2_Intron	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1 isoform a	445	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			large_intestine(1)	1						CAAGACTGGCCAAAGACGCCA	0.612													A	71902574	C	A	71902574	3	1	94	1	0	0	0	0	1	0	0	0	16814	594	21	5	375	5	TYSND1	10	71902574	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	248130	71902574	63632173	1890	61023											
UNC5B	219699	broad.mit.edu	37	chr10	73050709	73050709	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcggcgctgtatgcgggGctcgtggtggccatcttcgt	17	10	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:73050709G>A	uc001jro.2	+	9	1582	c.1137G>A	c.(1135-1137)GGG>GGA	p.G379G	UNC5B_uc001jrp.2_Silent_p.G368G	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	379	Helical; (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						TGTATGCGGGGCTCGTGGTGG	0.647													A	73050709	G	A	73050709	2	1	94	1	0	0	0	0	0	0	0	1	16989	1190	42	2		2	UNC5B	10	73050709	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1148135	73050709	62484038	1891	61024											
UNC5B	219699	broad.mit.edu	37	chr10	73056423	73056423	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacagcttggcctccacagAgctcacctgcaagatctgcg	10	15	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:73056423A>G	uc001jro.2	+	15	2859	c.2414A>G	c.(2413-2415)GAG>GGG	p.E805G	UNC5B_uc001jrp.2_Missense_Mutation_p.E794G	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	805	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						GCCTCCACAGAGCTCACCTGC	0.587													G	73056423	A	G	73056423	3	3	94	1	0	0	0	0	1	0	0	0	16989	304	11	3	2472	3	UNC5B	10	73056423	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	5714	73056423	62478324	1892	61025											
CDH23	64072	broad.mit.edu	37	chr10	73574991	73574991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacacccctgcacaaacttCgcgacgtgatcatggagacc	8	16	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:73574991C>T	uc001jrx.3	+	68	10398	c.10021C>T	c.(10021-10023)CGC>TGC	p.R3341C	CDH23_uc001jsg.3_Missense_Mutation_p.R1101C|CDH23_uc001jsh.3_Missense_Mutation_p.R1066C|CDH23_uc001jsi.3_Missense_Mutation_p.R1066C|CDH23_uc001jsj.3_Missense_Mutation_p.R238C|CDH23_uc010qjr.1_Missense_Mutation_p.R203C	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	3341	Cytoplasmic (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GCACAAACTTCGCGACGTGAT	0.642													T	73574991	C	T	73574991	3	4	94	1	0	0	0	0	1	0	0	0	3108	884	31	1	10715	1	CDH23	10	73574991	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	518568	73574991	61959756	1893	61026											
PSAP	5660	broad.mit.edu	37	chr10	73587902	73587902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatgcagtcctggcaaaCgtccccattatcctacagaa	7	13	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:73587902C>T	uc001jsm.2	-	6	693	c.589G>A	c.(589-591)GTT>ATT	p.V197I		NM_002778	NP_002769	P07602	SAP_HUMAN	prosaposin isoform a preproprotein	197	Saposin B-type 2.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			ovary(1)	1						TCCTGGCAAACGTCCCCATTA	0.493													T	73587902	C	T	73587902	3	4	94	1	0	0	0	0	1	0	0	0	12643	536	19	1	1037	1	PSAP	10	73587902	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	12911	73587902	61946845	1894	61027											
NUDT13	25961	broad.mit.edu	37	chr10	74886458	74886458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtggaagagaccatccgccGagaagttgcagaagaggtgg	16	7	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:74886458G>A	uc001jtj.2	+	8	856	c.731G>A	c.(730-732)CGA>CAA	p.R244Q	NUDT13_uc010qkc.1_Missense_Mutation_p.R118Q|NUDT13_uc010qkd.1_Missense_Mutation_p.R47Q|NUDT13_uc009xqw.2_RNA|NUDT13_uc001jtk.2_Missense_Mutation_p.E207K|NUDT13_uc010qke.1_Missense_Mutation_p.R47Q|NUDT13_uc001jtl.2_Intron|uc001jtm.2_5'Flank	NM_015901	NP_056985	Q86X67	NUD13_HUMAN	nudix-type motif 13	244	Nudix hydrolase.						hydrolase activity|metal ion binding				0	Prostate(51;0.0119)					ACCATCCGCCGAGAAGTTGCA	0.507													A	74886458	G	A	74886458	3	1	94	1	0	0	0	0	1	0	0	0	10729	1058	37	1	757	1	NUDT13	10	74886458	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1298556	74886458	60648289	1895	61028											
PLAU	5328	broad.mit.edu	37	chr10	75673438	75673439	+	Frame_Shift_Ins	INS	-	-	G													gccatctacaggaggcaccgINSggggggctctgtcacctacg					rs145070893	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:75673437_75673438C>CG	uc001jwa.3	+	6	747_748	c.601_602C>CG	c.(601-603)cggfs	p.R201fs	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Frame_Shift_Ins_p.R184fs|PLAU_uc010qkx.2_Frame_Shift_Ins_p.R115fs|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Frame_Shift_Ins_p.R201fs|PLAU_uc009xrq.1_Frame_Shift_Ins_p.R165fs	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	201	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	CAGGAGGCACCGGGGGGGCTCT	0.589													G	75673439	-	G	75673438	7	5	94	1	0	1	1	0	0	0	0	0	12022	1116	39	0	662	0	PLAU	10	75673438	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	786980	75673438	59861309	1896	61029											
MYST4	23522	broad.mit.edu	37	chr10	76790222	76790222	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacaagctaccatgaccccAccccccaacctgactcctcc	4	22	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:76790222A>G	uc001jwn.1	+	18	6133	c.5640A>G	c.(5638-5640)CCA>CCG	p.P1880P	MYST4_uc001jwo.1_Silent_p.P1588P|MYST4_uc001jwp.1_Silent_p.P1697P	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1880	Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					CCATGACCCCACCCCCCAACC	0.537			T	CREBBP	AML								G	76790222	A	G	76790222	2	3	94	1	0	0	0	0	0	0	0	1	10105	146	6	3		3	MYST4	10	76790222	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1116784	76790222	58744525	1897	61030											
KCNMA1	3778	broad.mit.edu	37	chr10	78708947	78708947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaagcgtctcccattcccGcttgaggtactcaatagagc	9	12	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:78708947G>A	uc001jxn.2	-	22	2839	c.2662C>T	c.(2662-2664)CGG>TGG	p.R888W	KCNMA1_uc001jxj.2_Missense_Mutation_p.R834W|KCNMA1_uc001jxk.1_Missense_Mutation_p.R506W|KCNMA1_uc009xrt.1_Missense_Mutation_p.R679W|KCNMA1_uc001jxl.1_Missense_Mutation_p.R513W|KCNMA1_uc001jxo.2_Missense_Mutation_p.R871W|KCNMA1_uc001jxm.2_Missense_Mutation_p.R830W|KCNMA1_uc001jxq.2_Missense_Mutation_p.R833W	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	888	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.A888A(1)		pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCCCATTCCCGCTTGAGGTAC	0.473													A	78708947	G	A	78708947	3	1	94	1	0	0	0	0	1	0	0	0	8073	1086	38	1	1105	1	KCNMA1	10	78708947	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1918725	78708947	56825800	1898	61031											
KCNMA1	3778	broad.mit.edu	37	chr10	78943226	78943226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacaaacacggggggcaccGtgaagaaatccactacagag	11	11	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:78943226G>A	uc001jxn.2	-	5	938	c.761C>T	c.(760-762)ACG>ATG	p.T254M	KCNMA1_uc001jxj.2_Missense_Mutation_p.T254M|KCNMA1_uc001jxk.1_Translation_Start_Site|KCNMA1_uc009xrt.1_Missense_Mutation_p.T74M|KCNMA1_uc001jxo.2_Missense_Mutation_p.T254M|KCNMA1_uc001jxm.2_Missense_Mutation_p.T254M|KCNMA1_uc001jxq.2_Missense_Mutation_p.T254M	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	254	Helical; Name=Segment S3; (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GGGGGGCACCGTGAAGAAATC	0.448													A	78943226	G	A	78943226	3	1	94	1	0	0	0	0	1	0	0	0	8073	1145	40	1	3217	1	KCNMA1	10	78943226	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	234279	78943226	56591521	1899	61032											
DLG5	9231	broad.mit.edu	37	chr10	79567627	79567627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtactgcaccttcaggcGgacgccatccctgggcttca	12	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:79567627G>A	uc001jzk.2	-	25	4793	c.4723C>T	c.(4723-4725)CGC>TGC	p.R1575C	DLG5_uc001jzi.2_Missense_Mutation_p.R330C|DLG5_uc001jzj.2_Missense_Mutation_p.R990C|DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1575	PDZ 4.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ACCTTCAGGCGGACGCCATCC	0.602													A	79567627	G	A	79567627	3	1	94	1	0	0	0	0	1	0	0	0	4558	1116	39	1	1068	1	DLG5	10	79567627	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	624401	79567627	55967120	1900	61033											
DLG5	9231	broad.mit.edu	37	chr10	79614059	79614059	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggttctgcaggctctgCaggtccgacatggctcgcac	13	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:79614059C>T	uc001jzk.2	-	4	676	c.606G>A	c.(604-606)CTG>CTA	p.L202L	DLG5_uc001jzj.2_5'Flank|DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	202					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GCAGGCTCTGCAGGTCCGACA	0.597													T	79614059	C	T	79614059	2	4	94	1	0	0	0	0	0	0	0	1	4558	697	25	2		2	DLG5	10	79614059	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	46432	79614059	55920688	1901	61034											
SFTPD	6441	broad.mit.edu	37	chr10	81697823	81697823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcctcgttcttagctaCgaccagctgttgcaaggcgg	12	12	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:81697823C>T	uc001kbh.2	-	8	956	c.913G>A	c.(913-915)GTA>ATA	p.V305I	MBL1P_uc001kbf.2_Intron	NM_003019	NP_003010	P35247	SFTPD_HUMAN	pulmonary surfactant-associated protein D	305	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			skin(1)	1	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TTCTTAGCTACGACCAGCTGT	0.562													T	81697823	C	T	81697823	3	4	94	1	0	0	0	0	1	0	0	0	14193	536	19	1	218	1	SFTPD	10	81697823	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2083764	81697823	53836924	1902	61035											
MAT1A	4143	broad.mit.edu	37	chr10	82040030	82040030	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggatgatggtgaggggcaTgcactcctctgtctcgtcgg	15	9	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:82040030T>G	uc001kbw.2	-	5	703	c.448A>C	c.(448-450)ATG>CTG	p.M150L		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	150					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GTGAGGGGCATGCACTCCTCT	0.627													G	82040030	T	G	82040030	3	3	94	1	0	0	0	0	1	0	0	0	9329	1464	51	5	759	5	MAT1A	10	82040030	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	342207	82040030	53494717	1903	61036											
NRG3	10718	broad.mit.edu	37	chr10	83635495	83635495	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaccaccactaccacttcCaccacgtcccccgccacccc	2	26	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:83635495C>A	uc001kco.2	+	1	426	c.399C>A	c.(397-399)TCC>TCA	p.S133S	NRG3_uc010qlz.1_Silent_p.S133S|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	133	Ser/Thr-rich.|Extracellular (Potential).|Poly-Thr.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ctaccacttccaccacgtccc	0.507													A	83635495	C	A	83635495	2	1	94	1	0	0	0	0	0	0	0	1	10649	581	21	5		5	NRG3	10	83635495	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1595465	83635495	51899252	1904	61037											
GRID1	2894	broad.mit.edu	37	chr10	87484202	87484202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcactctgagccctcaCagcctgtatcctgttcaaca	8	15	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:87484202C>T	uc001kdl.1	-	11	1866	c.1765G>A	c.(1765-1767)GTG>ATG	p.V589M	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.V160M	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	589	Cytoplasmic (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	TGAGCCCTCACAGCCTGTATC	0.552										Multiple Myeloma(13;0.14)			T	87484202	C	T	87484202	3	4	94	1	0	0	0	0	1	0	0	0	6771	478	17	4	1288	4	GRID1	10	87484202	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3848707	87484202	48050545	1905	61038											
WAPAL	23063	broad.mit.edu	37	chr10	88227089	88227089	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagtttcacagagccttcGgattttttctttaattttgt	6	7	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:88227089G>A	uc001kdo.2	-	9	2759	c.2317C>T	c.(2317-2319)CGA>TGA	p.R773*	WAPAL_uc009xsv.2_Nonsense_Mutation_p.R87*|WAPAL_uc001kdn.2_Nonsense_Mutation_p.R810*|WAPAL_uc009xsw.2_Nonsense_Mutation_p.R767*	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	773	Potential.|WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1						CAGAGCCTTCGGATTTTTTCT	0.358													A	88227089	G	A	88227089	4	1	94	1	0	0	0	0	0	1	0	0	17245	1124	39	1	1299	1	WAPAL	10	88227089	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	742887	88227089	47307658	1906	61039											
MMRN2	79812	broad.mit.edu	37	chr10	88702972	88702972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtccagctgccgccgctcGtccaggctcacctgggtctc	11	19	2	0	rs141447174		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:88702972G>A	uc001kea.2	-	6	1696	c.1569C>T	c.(1567-1569)GAC>GAT	p.D523D	MMRN2_uc010qmn.1_Silent_p.D166D|MMRN2_uc009xtb.2_Silent_p.D480D	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	523						extracellular space				large_intestine(1)	1						GCCGCCGCTCGTCCAGGCTCA	0.687													A	88702972	G	A	88702972	2	1	94	1	0	0	0	0	0	0	0	1	9671	1136	40	1		1	MMRN2	10	88702972	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	475883	88702972	46831775	1907	61040											
FAM35A	54537	broad.mit.edu	37	chr10	88911220	88911220	+	Frame_Shift_Del	DEL	A	A	-													tgtctgttgctgacccctggAaaaaaattcagcttttatac							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:88911220delA	uc001kei.3	+	3	223	c.109delA	c.(109-111)AAAfs	p.K37fs		NM_019054	NP_061927	Q86V20	FA35A_HUMAN	hypothetical protein LOC54537	37										ovary(2)|skin(2)	4						TGACCCCTGGAAAAAAATTCA	0.368													-	88911220	A	-	88911220	7	5	94	1	0	1	0	1	0	0	0	0	5553	247	9	0	111	0	FAM35A	10	88911220	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	208248	88911220	46623527	1908	61041											
PTEN	5728	broad.mit.edu	37	chr10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccaattcaggacccacaCgacgggaagacaagttcatg	9	13	2	1	rs121909219		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:89717672C>T	uc001kfb.2	+	8	1728	c.697C>T	c.(697-699)CGA>TGA	p.R233*		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)|p.G165_K342del(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(JHUEM1_ENDOMETRIUM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(HEC59_ENDOMETRIUM)	31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89717672	C	T	89717672	4	4	94	1	0	0	0	0	0	1	0	0	12738	528	19	1	723	1	PTEN	10	89717672	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	806452	89717672	45817075	1909	61042											
SLC16A12	387700	broad.mit.edu	37	chr10	91203598	91203599	+	Frame_Shift_Ins	INS	-	-	A													agtatgtctggaactccacaINSaaaaaaattgagatacatct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:91203597_91203598C>CA	uc001kgm.3	-	3	520_521	c.219_220G>TG	c.(217-222)tttgtgfs	p.F73fs		NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA.	43						integral to membrane|plasma membrane	symporter activity	p.P73Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TGGAACTCCACAAAAAAAATTG	0.361													A	91203599	-	A	91203598	7	5	94	1	0	1	1	0	0	0	0	0	14405	127	5	0	1351	0	SLC16A12	10	91203598	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1485926	91203598	44331149	1910	61043											
CYP26A1	1592	broad.mit.edu	37	chr10	94836945	94836945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatatttacagtggagctgGccaggcattgtgactggcag	13	7	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:94836945G>A	uc001kil.2	+	7	1423	c.1378G>A	c.(1378-1380)GCC>ACC	p.A460T	CYP26A1_uc001kik.1_Missense_Mutation_p.A391T|CYP26A1_uc001kim.1_Missense_Mutation_p.A358T	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	460					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				AGTGGAGCTGGCCAGGCATTG	0.458													A	94836945	G	A	94836945	3	1	94	1	0	0	0	0	1	0	0	0	4155	1203	42	2	1404	2	CYP26A1	10	94836945	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3633347	94836945	40697802	1911	61044											
MYOF	26509	broad.mit.edu	37	chr10	95157026	95157026	+	Frame_Shift_Del	DEL	T	T	-													gtcatatattgttagttttaTtttttcacacactgaaggaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:95157025_95157025AT>A	uc001kin.3	-	14	1436	c.1313_1313AT>T	c.(1312-1314)atafs	p.I438fs	MYOF_uc001kio.3_Frame_Shift_Del_p.I438fs|MYOF_uc001kip.4_Frame_Shift_Del_p.I438fs|MYOF_uc009xuf.2_Frame_Shift_Del_p.I420fs	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	438	C2 3.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGTTAGTTTTATTTTTTCACA	0.264													-	95157026	T	-	95157026	7	5	94	1	0	1	0	1	0	0	0	0	10089	1493	52	0	5033	0	MYOF	10	95157026	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	320081	95157026	40377721	1912	61045											
RBP4	5950	broad.mit.edu	37	chr10	95353732	95353732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccatcgaggttcaggaggCggcaggagtactgcacggca	16	10	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:95353732C>T	uc001kit.2	-	5	500	c.416G>A	c.(415-417)CGC>CAC	p.R139H		NM_006744	NP_006735	P02753	RET4_HUMAN	retinol-binding protein 4, plasma precursor	139					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding				0		Colorectal(252;0.122)			Vitamin A(DB00162)	GTTCAGGAGGCGGCAGGAGTA	0.577													T	95353732	C	T	95353732	3	4	94	1	0	0	0	0	1	0	0	0	13158	768	27	1	197	1	RBP4	10	95353732	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	196706	95353732	40181015	1913	61046											
TM9SF3	56889	broad.mit.edu	37	chr10	98287018	98287018	+	Frame_Shift_Del	DEL	A	A	-													taccgccatatatccaaagtAaaatgatgtttgaaataagc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:98287017_98287017TA>T	uc001kmm.4	-	13	1872	c.1655_1655TA>A	c.(1654-1656)tacfs	p.Y552fs		NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	Homo sapiens transmembrane 9 superfamily member 3 (TM9SF3), mRNA.	552						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		ATATCCAAAGTAAAATGATGT	0.299													-	98287018	A	-	98287018	7	5	94	1	0	1	0	1	0	0	0	0	15976	362	13	0	123	0	TM9SF3	10	98287018	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	2933286	98287018	37247729	1914	61047											
C10orf12	26148	broad.mit.edu	37	chr10	98742990	98742990	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaagtcaaggagttacgaGgagagattttccccagcagg	13	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:98742990G>T	uc001kmv.2	+	1	1950	c.1843G>T	c.(1843-1845)GGA>TGA	p.G615*		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	615										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GGAGTTACGAGGAGAGATTTT	0.507													T	98742990	G	T	98742990	4	4	94	1	0	0	0	0	0	1	0	0	1589	1001	35	5	1845	5	C10orf12	10	98742990	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	455972	98742990	36791757	1915	61048											
SLIT1	6585	broad.mit.edu	37	chr10	98807476	98807476	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggactgggggatgcgctcAgggatcttggtgagcttcag	18	7	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:98807476A>G	uc001kmw.2	-	16	1857	c.1605T>C	c.(1603-1605)CCT>CCC	p.P535P	SLIT1_uc009xvh.1_Silent_p.P545P	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	535	LRRNT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGATGCGCTCAGGGATCTTGG	0.637													G	98807476	A	G	98807476	2	3	94	1	0	0	0	0	0	0	0	1	14739	175	7	3		3	SLIT1	10	98807476	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	64486	98807476	36727271	1916	61049											
RRP12	23223	broad.mit.edu	37	chr10	99144989	99144989	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggttgtaaatcattcTcactgggaacatagtcgtac	11	8	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:99144989T>G	uc001knf.2	-	10	1281	c.1142A>C	c.(1141-1143)GAG>GCG	p.E381A	RRP12_uc009xvm.2_Missense_Mutation_p.E99A|RRP12_uc010qou.1_Missense_Mutation_p.E320A|RRP12_uc009xvn.2_Missense_Mutation_p.E281A	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	381						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TAAATCATTCTCACTGGGAAC	0.527													G	99144989	T	G	99144989	3	3	94	1	0	0	0	0	1	0	0	0	13686	1551	54	5	2851	5	RRP12	10	99144989	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	337513	99144989	36389758	1917	61050											
GOLGA7B	401647	broad.mit.edu	37	chr10	99619287	99619287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttatccagagagactacagcGatgggaccatctgtcagttc	10	10	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:99619287G>A	uc001kos.2	+	2	150	c.85G>A	c.(85-87)GAT>AAT	p.D29N		NM_001010917	NP_001010917	Q2TAP0	GOG7B_HUMAN	golgi autoantigen, golgin subfamily a, 7B	29						Golgi membrane					0						AGACTACAGCGATGGGACCAT	0.577													A	99619287	G	A	99619287	3	1	94	1	0	0	0	0	1	0	0	0	6562	1058	37	1	91	1	GOLGA7B	10	99619287	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	474298	99619287	35915460	1918	61051											
GOLGA7B	401647	broad.mit.edu	37	chr10	99623791	99623791	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgagggctgcctggcctgCgccacggcctacttcatctt	11	16	2	0	rs138920879	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:99623791C>T	uc001kos.2	+	3	308	c.243C>T	c.(241-243)TGC>TGT	p.C81C		NM_001010917	NP_001010917	Q2TAP0	GOG7B_HUMAN	golgi autoantigen, golgin subfamily a, 7B	81						Golgi membrane					0						GCCTGGCCTGCGCCACGGCCT	0.617													T	99623791	C	T	99623791	2	4	94	1	0	0	0	0	0	0	0	1	6562	776	27	1		1	GOLGA7B	10	99623791	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4504	99623791	35910956	1919	61052											
CNNM1	26507	broad.mit.edu	37	chr10	101089318	101089318	+	Frame_Shift_Del	DEL	G	G	-													ggaggccgcgtgtccctggaGgggggcaccctgcgcgccgc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:101089318delG	uc001kpp.3	+	1	463	c.174delG	c.(172-174)GAGfs	p.E58fs	CNNM1_uc009xwe.2_Frame_Shift_Del_p.E58fs|CNNM1_uc010qpi.1_Frame_Shift_Del_p.E58fs|CNNM1_uc009xwf.2_Frame_Shift_Del_p.E58fs	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	58					ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TGTCCCTGGAGGGGGGCACCC	0.632													-	101089318	G	-	101089318	7	5	94	1	0	1	0	1	0	0	0	0	3612	991	35	0	176	0	CNNM1	10	101089318	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	1465527	101089318	34445429	1920	61053											
GOT1	2805	broad.mit.edu	37	chr10	101163225	101163225	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagactgggagccccttaCcattcctcaaagagctcagg	9	14	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:101163225C>T	uc001kpr.2	-	7	1167	c.959_splice	c.e7+1	p.W320_splice	GOT1_uc009xwh.2_Splice_Site|GOT1_uc001kpq.1_Splice_Site_p.W33_splice	NM_002079	NP_002070	P17174	AATC_HUMAN	aspartate aminotransferase 1						aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding				0		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GAGCCCCTTACCATTCCTCAA	0.552													T	101163225	C	T	101163225	5	4	94	1	0	0	0	0	0	0	1	0	6579	521	18	4	293	4	GOT1	10	101163225	Splice_Site	SNP	C	TCGA-BR-8487-01A-11D-2394-08	73907	101163225	34371522	1921	61054											
HIF1AN	55662	broad.mit.edu	37	chr10	102306303	102306303	+	Frame_Shift_Del	DEL	G	G	-													acatagagtcattactaaatGgggggattaccatcactgtg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:102306303delG	uc001krj.3	+	6	934	c.859delG	c.(859-861)GGGfs	p.G287fs		NM_017902	NP_060372	Q9NWT6	HIF1N_HUMAN	hypoxia-inducible factor 1, alpha subunit	287	JmjC.|Interaction with HIF1A.|Interaction with VHL.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding				0		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		ATTACTAAATGGGGGGATTAC	0.463													-	102306303	G	-	102306303	7	5	94	1	0	1	0	1	0	0	0	0	7104	1348	47	0	881	0	HIF1AN	10	102306303	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	1143078	102306303	33228444	1922	61055											
C10orf2	56652	broad.mit.edu	37	chr10	102748871	102748871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccttacctggaacagttcCggcggattgtattctggttg	11	10	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:102748871C>T	uc001ksf.2	+	1	1579	c.904C>T	c.(904-906)CGG>TGG	p.R302W	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Missense_Mutation_p.R302W|C10orf2_uc001ksi.2_Intron|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksh.2_Intron	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A	302					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGAACAGTTCCGGCGGATTGT	0.577													T	102748871	C	T	102748871	3	4	94	1	0	0	0	0	1	0	0	0	1597	643	23	1	906	1	C10orf2	10	102748871	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	442568	102748871	32785876	1923	61056											
C10orf2	56652	broad.mit.edu	37	chr10	102748967	102748967	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaacgatgcttcttggtgCgaccaggagaccagcaaccc	10	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:102748967C>T	uc001ksf.2	+	1	1675	c.1000C>T	c.(1000-1002)CGA>TGA	p.R334*	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Nonsense_Mutation_p.R334*|C10orf2_uc001ksi.2_Intron|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksh.2_Intron	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A	334			R -> P (in PEOA3).		cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CTTCTTGGTGCGACCAGGAGA	0.572													T	102748967	C	T	102748967	4	4	94	1	0	0	0	0	0	1	0	0	1597	760	27	1	1002	1	C10orf2	10	102748967	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	96	102748967	32785780	1924	61057											
LZTS2	84445	broad.mit.edu	37	chr10	102766799	102766799	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagatgtaccggcgcaaCcggcagctagagcaggagct	13	12	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:102766799C>T	uc001ksj.2	+	5	1953	c.1884C>T	c.(1882-1884)AAC>AAT	p.N628N	LZTS2_uc010qpw.1_Silent_p.N628N|LZTS2_uc001ksk.2_Silent_p.N628N|LZTS2_uc001ksl.2_Silent_p.N628N|LZTS2_uc001ksm.2_RNA	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	628	Potential.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).|Sufficient for interaction with CTNNB1.				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				ovary(2)|large_intestine(1)|breast(1)	4				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		ACCGGCGCAACCGGCAGCTAG	0.667													T	102766799	C	T	102766799	2	4	94	1	0	0	0	0	0	0	0	1	9139	506	18	4		4	LZTS2	10	102766799	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	17832	102766799	32767948	1925	61058											
TLX1	3195	broad.mit.edu	37	chr10	102893992	102893992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcgcacgtccttcacacGcctgcagatctgcgagctgg	12	16	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:102893992G>A	uc001ksw.2	+	2	867	c.629G>A	c.(628-630)CGC>CAC	p.R210H		NM_005521	NP_005512	P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	210	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TCCTTCACACGCCTGCAGATC	0.637			T	TRB@|TRD@	T-ALL								A	102893992	G	A	102893992	3	1	94	1	0	0	0	0	1	0	0	0	15956	1087	38	1	635	1	TLX1	10	102893992	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	127193	102893992	32640755	1926	61059											
FBXW4	6468	broad.mit.edu	37	chr10	103371152	103371152	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agggctgctgaggggagtcgAcgtcagcgggaaggcctgga	20	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:103371152A>T	uc001kto.2	-	9	1481	c.1135T>A	c.(1135-1137)TCG>ACG	p.S379T		NM_022039	NP_071322	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	379					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				skin(1)	1		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		AGGGGAGTCGACGTCAGCGGG	0.592													T	103371152	A	T	103371152	3	4	94	1	0	0	0	0	1	0	0	0	5767	275	10	5	107	5	FBXW4	10	103371152	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	477160	103371152	32163595	1927	61060											
FBXW4	6468	broad.mit.edu	37	chr10	103432772	103432772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtacttgacagtgaaggtgCtgtgaatcttatgaatgcca	11	6	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:103432772C>T	uc001kto.2	-	4	921	c.575G>A	c.(574-576)AGC>AAC	p.S192N		NM_022039	NP_071322	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	192	WD 1.				ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				skin(1)	1		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		AGTGAAGGTGCTGTGAATCTT	0.488													T	103432772	C	T	103432772	3	4	94	1	0	0	0	0	1	0	0	0	5767	797	28	2	687	2	FBXW4	10	103432772	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	61620	103432772	32101975	1928	61061											
GBF1	8729	broad.mit.edu	37	chr10	104136713	104136713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcaagtcccaggagaaacGtggcaagagtcacaaatatg	11	8	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:104136713G>A	uc001kux.1	+	33	4547	c.4307G>A	c.(4306-4308)CGT>CAT	p.R1436H	GBF1_uc001kuy.1_Missense_Mutation_p.R1436H|GBF1_uc001kuz.1_Missense_Mutation_p.R1437H	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1436					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CAGGAGAAACGTGGCAAGAGT	0.512													A	104136713	G	A	104136713	3	1	94	1	0	0	0	0	1	0	0	0	6271	1145	40	1	4433	1	GBF1	10	104136713	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	703941	104136713	31398034	1929	61062											
NFKB2	4791	broad.mit.edu	37	chr10	104159847	104159847	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caacccccagaccactgcacCtagccatcatccacgggcag	7	19	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:104159847C>A	uc001kvb.2	+	15	1745	c.1480C>A	c.(1480-1482)CTA>ATA	p.L494I	NFKB2_uc001kva.2_Missense_Mutation_p.L494I|NFKB2_uc001kvd.2_Missense_Mutation_p.L494I|NFKB2_uc009xxc.2_Missense_Mutation_p.L494I	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene	494	ANK 1.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(3)	3		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		ACCACTGCACCTAGCCATCAT	0.607			T	IGH@	B-NHL								A	104159847	C	A	104159847	3	1	94	1	0	0	0	0	1	0	0	0	10376	680	24	5	1534	5	NFKB2	10	104159847	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	23134	104159847	31374900	1930	61063											
NFKB2	4791	broad.mit.edu	37	chr10	104161207	104161207	+	Frame_Shift_Del	DEL	T	T	-													actgcggctgtctccccaggTgaagaccttgctgctaaatg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:104161207delT	uc001kvb.2	+	20	2490	c.2225delT	c.(2224-2226)GTGfs	p.V742fs	NFKB2_uc001kva.2_Frame_Shift_Del_p.V742fs|NFKB2_uc001kvd.2_Frame_Shift_Del_p.V742fs|NFKB2_uc009xxc.2_Frame_Shift_Del_p.V742fs	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene	742	ANK 7.		Missing (in truncated form p80HT).|Missing (in truncated form LB40).|Missing (in truncated form EB308).		innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(3)	3		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		TCTCCCCAGGTGAAGACCTTG	0.582			T	IGH@	B-NHL								-	104161207	T	-	104161207	7	5	94	1	0	1	0	1	0	0	0	0	10376	1710	59	0	2299	0	NFKB2	10	104161207	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	1360	104161207	31373540	1931	61064											
PSD	5662	broad.mit.edu	37	chr10	104175781	104175781	+	Frame_Shift_Del	DEL	G	G	-													tcccaggccttacctgagctGggggggtccaaggagccata							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:104175781delG	uc001kvg.1	-	3	1277	c.750delC	c.(748-750)CCCfs	p.P250fs	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Frame_Shift_Del_p.P250fs	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	250					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TACCTGAGCTGGGGGGGTCCA	0.607													-	104175781	G	-	104175781	7	5	94	1	0	1	0	1	0	0	0	0	12646	1335	47	0	2384	0	PSD	10	104175781	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	14574	104175781	31358966	1932	61065											
TMEM180	79847	broad.mit.edu	37	chr10	104231098	104231098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccttgggccggtatctccGgcagctggcacgccatcgga	13	15	1	0	rs149406506	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:104231098G>A	uc001kvt.2	+	6	992	c.773G>A	c.(772-774)CGG>CAG	p.R258Q	TMEM180_uc001kvs.2_Missense_Mutation_p.R107Q|TMEM180_uc010qql.1_5'UTR|TMEM180_uc010qqm.1_Missense_Mutation_p.R107Q|TMEM180_uc001kvu.2_Missense_Mutation_p.R258Q	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	transmembrane protein 180	258						integral to membrane				ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CGGTATCTCCGGCAGCTGGCA	0.627													A	104231098	G	A	104231098	3	1	94	1	0	0	0	0	1	0	0	0	16096	1116	39	1	787	1	TMEM180	10	104231098	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	55317	104231098	31303649	1933	61066											
CYP17A1	1586	broad.mit.edu	37	chr10	104597068	104597068	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagggcaccttctcttgggCcaaaacaaataagctagggt	10	11	1	0	rs104894141		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:104597068C>A	uc001kwg.2	-	1	223	c.51G>T	c.(49-51)TGG>TGT	p.W17C		NM_000102	NP_000093	P05093	CP17A_HUMAN	cytochrome P450, family 17	17					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	TTCTCTTGGGCCAAAACAAAT	0.587													A	104597068	C	A	104597068	3	1	94	1	0	0	0	0	1	0	0	0	4147	740	26	5	1507	5	CYP17A1	10	104597068	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	365970	104597068	30937679	1934	61067											
COL17A1	1308	broad.mit.edu	37	chr10	105797491	105797491	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggggaccaggtgggcctggGggaccctgaactccggatag	19	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:105797491G>T	uc001kxr.2	-	46	3280	c.3111C>A	c.(3109-3111)CCC>CCA	p.P1037P		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	1037	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GTGGGCCTGGGGGACCCTGAA	0.557													T	105797491	G	T	105797491	2	4	94	1	0	0	0	0	0	0	0	1	3674	1219	43	5		5	COL17A1	10	105797491	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1200423	105797491	29737256	1935	61068											
COL17A1	1308	broad.mit.edu	37	chr10	105836080	105836080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatacgcatggcgggtaaCgtgagttttcctttcaaagg	11	8	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:105836080C>T	uc001kxr.2	-	5	479	c.310G>A	c.(310-312)GTT>ATT	p.V104I	COL17A1_uc010qqv.1_Missense_Mutation_p.V104I|COL17A1_uc009xxp.1_Missense_Mutation_p.V104I	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	104	Cytoplasmic (Potential).|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGGCGGGTAACGTGAGTTTTC	0.502													T	105836080	C	T	105836080	3	4	94	1	0	0	0	0	1	0	0	0	3674	536	19	1	4391	1	COL17A1	10	105836080	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	38589	105836080	29698667	1936	61069											
GPAM	57678	broad.mit.edu	37	chr10	113918098	113918098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccactgtaagaatgccataCtggataaactttcctactgt	7	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:113918098C>T	uc009xxy.1	-	18	2154	c.1956G>A	c.(1954-1956)CAG>CAA	p.Q652Q	GPAM_uc001kzp.2_Silent_p.Q652Q|GPAM_uc001kzq.1_Silent_p.Q652Q	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	652	Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential).			Q -> R (in Ref. 1; CAD89932).	phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			ovary(1)|skin(1)	2				Epithelial(162;0.0306)|all cancers(201;0.123)		GAATGCCATACTGGATAAACT	0.338													T	113918098	C	T	113918098	2	4	94	1	0	0	0	0	0	0	0	1	6588	564	20	4		4	GPAM	10	113918098	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	8082018	113918098	21616649	1937	61070											
TCF7L2	6934	broad.mit.edu	37	chr10	114911586	114911586	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaggaaatgagagcaaaggtCgtagctgagtgcacgttgaa	14	5	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:114911586C>A	uc001lae.3	+	10	1611	c.1104C>A	c.(1102-1104)GTC>GTA	p.V368V	TCF7L2_uc001lac.3_Silent_p.V345V|TCF7L2_uc010qrk.1_Silent_p.V345V|TCF7L2_uc010qrl.1_Silent_p.V345V|TCF7L2_uc010qrm.1_Silent_p.V368V|TCF7L2_uc010qrn.1_Silent_p.V311V|TCF7L2_uc001lad.3_Silent_p.V341V|TCF7L2_uc001lag.3_Silent_p.V392V|TCF7L2_uc001laf.3_Silent_p.V345V|TCF7L2_uc010qro.1_Silent_p.V345V|TCF7L2_uc001lah.2_Silent_p.V350V|TCF7L2_uc010qrp.1_Silent_p.V345V|TCF7L2_uc010qrq.1_Silent_p.V341V|TCF7L2_uc010qrr.1_Silent_p.V283V|TCF7L2_uc010qrs.1_Silent_p.V239V|TCF7L2_uc010qrt.1_Silent_p.V239V|TCF7L2_uc010qru.1_Silent_p.V267V|TCF7L2_uc010qrv.1_Silent_p.V185V|TCF7L2_uc010qrw.1_Silent_p.V72V|TCF7L2_uc010qrx.1_Silent_p.V225V	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	368	Mediates interaction with MAD2L2.|HMG box.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GAGCAAAGGTCGTAGCTGAGT	0.507													A	114911586	C	A	114911586	2	1	94	1	0	0	0	0	0	0	0	1	15695	871	31	5		5	TCF7L2	10	114911586	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	993488	114911586	20623161	1938	61071											
C10orf118	55088	broad.mit.edu	37	chr10	115887358	115887358	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttatctacttgtggaaagTtatccacagctactgaggac	8	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:115887358T>C	uc001lbb.1	-	14	2907	c.2255A>G	c.(2254-2256)AAC>AGC	p.N752S	C10orf118_uc009xyd.1_Missense_Mutation_p.N350S|C10orf118_uc001lbc.1_Missense_Mutation_p.N752S|C10orf118_uc009xye.1_Intron	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	CTCL tumor antigen L14-2	752										ovary(2)	2		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TTGTGGAAAGTTATCCACAGC	0.413													C	115887358	T	C	115887358	3	2	94	1	0	0	0	0	1	0	0	0	1587	1725	60	3	453	3	C10orf118	10	115887358	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	975772	115887358	19647389	1939	61072											
FAM160B1	57700	broad.mit.edu	37	chr10	116605175	116605175	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagcatttccaggaaaaCgagccttaatttcatttctt	5	10	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:116605175C>T	uc001lcb.2	+	8	1398	c.1063C>T	c.(1063-1065)CGA>TGA	p.R355*	FAM160B1_uc001lcc.2_Nonsense_Mutation_p.R355*	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	355										lung(1)	1						TCCAGGAAAACGAGCCTTAAT	0.338													T	116605175	C	T	116605175	4	4	94	1	0	0	0	0	0	1	0	0	5470	528	19	1	1093	1	FAM160B1	10	116605175	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	717817	116605175	18929572	1940	61073											
TRUB1	142940	broad.mit.edu	37	chr10	116730192	116730192	+	Frame_Shift_Del	DEL	C	C	-													ctggaaatataatgcaagtgCcccccctgtaagttcaatta							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:116730191_116730191GC>G	uc001lcd.3	+	4	649	c.588_588GC>G	c.(586-588)gtgfs	p.V196fs	TRUB1_uc010qsl.2_Frame_Shift_Del_p.V98fs|U6_uc021pzh.1_5'Flank	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	Homo sapiens TruB pseudouridine (psi) synthase homolog 1 (E. coli) (TRUB1), mRNA.	196					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGT	0.318													-	116730192	C	-	116730192	7	5	94	1	0	1	0	1	0	0	0	0	16599	739	26	0	607	0	TRUB1	10	116730192	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	125017	116730192	18804555	1941	61074											
VAX1	11023	broad.mit.edu	37	chr10	118896162	118896162	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgatctctcggatggaccCcttggcatctggggaagggg	16	9	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:118896162C>A	uc009xyx.2	-	2	495	c.250G>T	c.(250-252)GGG>TGG	p.G84W	VAX1_uc001ldb.1_Missense_Mutation_p.G84W	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1 isoform a	84						nucleus	sequence-specific DNA binding			ovary(2)	2				all cancers(201;0.0108)		CGGATGGACCCCTTGGCATCT	0.642													A	118896162	C	A	118896162	3	1	94	1	0	0	0	0	1	0	0	0	17131	623	22	5	902	5	VAX1	10	118896162	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2165970	118896162	16638585	1942	61075											
INPP5F	22876	broad.mit.edu	37	chr10	121558113	121558114	+	Frame_Shift_Ins	INS	-	-	A													aagaacaactgaacatttacINSaaaaaacaggtgggctttga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:121558113_121558114insA	uc001leo.2	+	9	1273_1274	c.1107_1108insA	c.(1105-1110)TACAAAfs	p.Y369fs		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	369_370	SAC.						phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TGAACATTTACAAAAAACAGGT	0.302													A	121558114	-	A	121558113	7	5	94	1	0	1	1	0	0	0	0	0	7758	489	17	0	1141	0	INPP5F	10	121558113	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	2661951	121558113	13976634	1943	61076	285	2									
INPP5F	22876	broad.mit.edu	37	chr10	121558114	121558115	+	Frame_Shift_Ins	INS	-	-	A													agaacaactgaacatttacaINSaaaaacaggtgggctttgat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:121558113_121558114C>CA	uc001leo.3	+	8	1323_1324	c.1107_1108C>CA	c.(1105-1110)tacaaafs	p.Y369fs		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	369	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TGAACATTTACAAAAAACAGGT	0.302													A	121558115	-	A	121558114	7	5	94	1	0	1	1	0	0	0	0	0	7758	131	5	0	1142	0	INPP5F	10	121558114	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	121558114	13976633	1944	61077	285	2									
TACC2	10579	broad.mit.edu	37	chr10	123970582	123970582	+	Frame_Shift_Del	DEL	C	C	-													gagagtgcagaaggggttgtCcccccggcttctggaggtgg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:123970582delC	uc001lfv.2	+	9	7002	c.6642delC	c.(6640-6642)GTCfs	p.V2214fs	TACC2_uc001lfw.2_Frame_Shift_Del_p.V360fs|TACC2_uc009xzx.2_Frame_Shift_Del_p.V2169fs|TACC2_uc010qtv.1_Frame_Shift_Del_p.V2218fs|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Frame_Shift_Del_p.V292fs|TACC2_uc001lga.2_Frame_Shift_Del_p.V292fs|TACC2_uc009xzy.2_Frame_Shift_Del_p.V292fs|TACC2_uc001lgb.2_Frame_Shift_Del_p.V249fs|TACC2_uc010qtw.1_Frame_Shift_Del_p.V309fs	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2214						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAGGGGTTGTCCCCCCGGCTT	0.642													-	123970582	C	-	123970582	7	5	94	1	0	1	0	1	0	0	0	0	15499	842	30	0	6744	0	TACC2	10	123970582	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	2412468	123970582	11564165	1945	61078											
DMBT1	1755	broad.mit.edu	37	chr10	124402883	124402883	+	Frame_Shift_Del	DEL	C	C	-													gggtcccatccagctgcagaCccccccacgccgagaagagg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:124402882_124402882AC>A	uc001lgk.1	+	52	7316	c.7210_7210AC>A	c.(7210-7212)accfs	p.T2404fs	DMBT1_uc001lgl.1_Frame_Shift_Del_p.T2394fs|DMBT1_uc001lgm.1_Frame_Shift_Del_p.T1776fs|DMBT1_uc021qaf.1_Frame_Shift_Del_p.T2404fs|DMBT1_uc021qag.1_Frame_Shift_Del_p.T2394fs|DMBT1_uc021qah.1_Frame_Shift_Del_p.T1776fs|DMBT1_uc009xzz.1_Frame_Shift_Del_p.T2403fs|DMBT1_uc010qtx.1_Frame_Shift_Del_p.T1124fs|DMBT1_uc009yab.1_Frame_Shift_Del_p.T1107fs|DMBT1_uc009yac.1_Frame_Shift_Del_p.T698fs	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2404					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCAGCTGCAGACCCCCCCACG	0.642													-	124402883	C	-	124402883	7	5	94	1	0	1	0	1	0	0	0	0	4577	507	18	0	7421	0	DMBT1	10	124402883	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	432301	124402883	11131864	1946	61079											
FAM24B	196792	broad.mit.edu	37	chr10	124608899	124608899	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggctgttcttggcccacCacaccttgtctgggttgtga	11	13	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:124608899C>T	uc001lgt.2	-	4	483	c.149G>A	c.(148-150)TGG>TAG	p.W50*	CUZD1_uc001lgs.2_5'UTR|CUZD1_uc010qtz.1_Intron	NM_152644	NP_689857	Q8N5W8	FA24B_HUMAN	hypothetical protein LOC196792 precursor	50						extracellular region					0		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		CTTGGCCCACCACACCTTGTC	0.478													T	124608899	C	T	124608899	4	4	94	1	0	0	0	0	0	1	0	0	5548	595	21	4	139	4	FAM24B	10	124608899	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	206016	124608899	10925848	1947	61080											
HMX2	3167	broad.mit.edu	37	chr10	124907929	124907929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgcgggcaaggggtgtcCggcggccggtggcgtctcca	19	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:124907929C>T	uc001lhc.1	+	1	292	c.35C>T	c.(34-36)CCG>CTG	p.P12L		NM_005519	NP_005510	A2RU54	HMX2_HUMAN	H6 family homeobox 2	12					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		AAGGGGTGTCCGGCGGCCGGT	0.637													T	124907929	C	T	124907929	3	4	94	1	0	0	0	0	1	0	0	0	7247	652	23	1	37	1	HMX2	10	124907929	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	299030	124907929	10626818	1948	61081											
HMX2	3167	broad.mit.edu	37	chr10	124908149	124908149	+	Frame_Shift_Del	DEL	T	T	-													aagcaccatccccccatcccTtttccttgcctgggtaagga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:124908148_124908148CT>C	uc001lhc.1	+	0	511	c.254_254CT>C	c.(253-255)cctfs	p.P85fs		NM_005519	NP_005510	A2RU54	HMX2_HUMAN	Homo sapiens H6 family homeobox 2 (HMX2), mRNA.	85					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		CCCCCCATCCCTTTTCCTTGC	0.711													-	124908149	T	-	124908149	7	5	94	1	0	1	0	1	0	0	0	0	7247	1596	56	0	257	0	HMX2	10	124908149	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	220	124908149	10626598	1949	61082											
CHST15	51363	broad.mit.edu	37	chr10	125780849	125780849	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcaattttcaaacagctGcagtgcttctgtcactttct	6	11	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:125780849G>A	uc001lhl.2	-	5	1783	c.1270C>T	c.(1270-1272)CAG>TAG	p.Q424*	CHST15_uc001lhm.2_Nonsense_Mutation_p.Q424*|CHST15_uc001lhn.2_Nonsense_Mutation_p.Q424*|CHST15_uc010que.1_Nonsense_Mutation_p.Q424*|CHST15_uc001lho.2_Nonsense_Mutation_p.Q424*	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	424	Lumenal (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						TCAAACAGCTGCAGTGCTTCT	0.473													A	125780849	G	A	125780849	4	1	94	1	0	0	0	0	0	1	0	0	3403	1328	46	2	427	2	CHST15	10	125780849	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	872700	125780849	9753898	1950	61083											
OAT	4942	broad.mit.edu	37	chr10	126090338	126090338	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcctagtggattgccaCcgtatgtggacccatgctcc	12	13	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:126090338C>G	uc001lhp.2	-	8	1078	c.971G>C	c.(970-972)GGT>GCT	p.G324A	OAT_uc001lhq.2_RNA|OAT_uc001lhr.2_Missense_Mutation_p.G186A	NM_000274	NP_000265	P04181	OAT_HUMAN	ornithine aminotransferase precursor	324					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding				0		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	TGGATTGCCACCGTATGTGGA	0.478													G	126090338	C	G	126090338	3	3	94	1	0	0	0	0	1	0	0	0	10803	507	18	5	360	5	OAT	10	126090338	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	309489	126090338	9444409	1951	61084											
C10orf137	26098	broad.mit.edu	37	chr10	127424224	127424224	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcataagattattgcttcCgccaattacatgctttcaga	5	9	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:127424224C>T	uc001liq.1	+	13	1802	c.1509C>T	c.(1507-1509)TCC>TCT	p.S503S	C10orf137_uc001lin.2_Silent_p.S469S|C10orf137_uc001lio.1_Silent_p.S469S|C10orf137_uc001lip.1_Silent_p.S207S|C10orf137_uc001lir.2_5'UTR	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTATTGCTTCCGCCAATTACA	0.299													T	127424224	C	T	127424224	2	4	94	1	0	0	0	0	0	0	0	1	1594	639	23	1		1	C10orf137	10	127424224	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1333886	127424224	8110523	1952	61085											
DHX32	55760	broad.mit.edu	37	chr10	127541200	127541200	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcgagtttgctcttattctCgggttgtacacctttaaatg	9	8	2	0	rs141841599	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:127541200C>T	uc001ljf.1	-	5	1595	c.1104G>A	c.(1102-1104)CCG>CCA	p.P368P	BCCIP_uc001ljd.3_Intron|DHX32_uc001lje.1_5'UTR|DHX32_uc001ljg.1_Silent_p.P368P|DHX32_uc009yam.1_Silent_p.P123P	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32	368						mitochondrion|nucleus	ATP binding|helicase activity			breast(2)|ovary(1)|lung(1)	4		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTCTTATTCTCGGGTTGTACA	0.478													T	127541200	C	T	127541200	2	4	94	1	0	0	0	0	0	0	0	1	4505	871	31	1		1	DHX32	10	127541200	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	116976	127541200	7993547	1953	61086											
FANK1	92565	broad.mit.edu	37	chr10	127677164	127677164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggtctggaaccaaggaCgctgtacagatttcgcctga	12	9	1	3	rs142488342	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:127677164C>T	uc001ljh.3	+	3	340	c.236C>T	c.(235-237)ACG>ATG	p.T79M	FANK1_uc010quk.1_Missense_Mutation_p.T73M|FANK1_uc009yan.2_Missense_Mutation_p.T79M|FANK1_uc001lji.2_Missense_Mutation_p.T73M	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains	79	Fibronectin type-III.					cytoplasm|nucleus				ovary(1)	1		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GAACCAAGGACGCTGTACAGA	0.512													T	127677164	C	T	127677164	3	4	94	1	0	0	0	0	1	0	0	0	5672	536	19	1	246	1	FANK1	10	127677164	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	135964	127677164	7857583	1954	61087											
DOCK1	1793	broad.mit.edu	37	chr10	128841408	128841408	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttacattaagaaacacttTagtgcaacgttagcctacac	5	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:128841408T>C	uc001ljt.2	+	21	2182	c.2118T>C	c.(2116-2118)TTT>TTC	p.F706F	DOCK1_uc010qun.1_Silent_p.F727F	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	706					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGAAACACTTTAGTGCAACGT	0.289													C	128841408	T	C	128841408	2	2	94	1	0	0	0	0	0	0	0	1	4684	1751	61	3		3	DOCK1	10	128841408	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1164244	128841408	6693339	1955	61088											
CLRN3	119467	broad.mit.edu	37	chr10	129676597	129676597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctttactggtggttgccGggtaaagcatttggaacaac	11	8	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:129676597G>A	uc001lka.1	-	3	660	c.497C>T	c.(496-498)CCG>CTG	p.P166L	CLRN3_uc001ljz.1_Missense_Mutation_p.P98L	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	clarin 3	166						integral to membrane				skin(1)	1		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				GGTGGTTGCCGGGTAAAGCAT	0.448													A	129676597	G	A	129676597	3	1	94	1	0	0	0	0	1	0	0	0	3559	1116	39	1	187	1	CLRN3	10	129676597	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	835189	129676597	5858150	1956	61089											
MGMT	4255	broad.mit.edu	37	chr10	131334542	131334542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggattgtgaaatgaaacGcaccacactggacagccctt	9	11	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:131334542G>A	uc001lkh.2	+	2	145	c.119G>A	c.(118-120)CGC>CAC	p.R40H		NM_002412	NP_002403	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	9										ovary(1)|breast(1)	2		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GAAATGAAACGCACCACACTG	0.458								Direct_reversal_of_damage					A	131334542	G	A	131334542	3	1	94	1	0	0	0	0	1	0	0	0	9557	1087	38	1	125	1	MGMT	10	131334542	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1657945	131334542	4200205	1957	61090											
EBF3	253738	broad.mit.edu	37	chr10	131665498	131665498	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccaggaatgtgcctcggcgGggtctggactcggatggcat	17	10	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:131665498G>C	uc001lki.1	-	10	978	c.919C>G	c.(919-921)CCG>GCG	p.P307A		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	316	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGCCTCGGCGGGGTCTGGACT	0.577													C	131665498	G	C	131665498	3	2	94	1	0	0	0	0	1	0	0	0	4882	1232	43	5	764	5	EBF3	10	131665498	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	330956	131665498	3869249	1958	61091											
EBF3	253738	broad.mit.edu	37	chr10	131666125	131666125	+	Frame_Shift_Del	DEL	C	C	-													caattatgatgacggtggcaCcccccgtggtccagccttca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:131666124_131666124AC>A	uc021qav.1	-	8	866	c.765_765GT>T	c.(763-765)ggtfs	p.G255fs	EBF3_uc001lki.2_Frame_Shift_Del_p.G269fs	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	278					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGACGGTGGCACCCCCCGTGG	0.577													-	131666125	C	-	131666125	7	5	94	1	0	1	0	1	0	0	0	0	4882	507	18	0	881	0	EBF3	10	131666125	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	627	131666125	3868622	1959	61092											
JAKMIP3	282973	broad.mit.edu	37	chr10	133930788	133930788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggacaacgagaaccagCggctgcaggcactgctcagt	12	12	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:133930788C>T	uc001lkx.3	+	2	343	c.343C>T	c.(343-345)CGG>TGG	p.R115W		NM_001105521	NP_001098991			Janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CGAGAACCAGCGGCTGCAGGC	0.612													T	133930788	C	T	133930788	3	4	94	1	0	0	0	0	1	0	0	0	7942	759	27	1	349	1	JAKMIP3	10	133930788	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2264663	133930788	1603959	1960	61093											
NKX6-2	84504	broad.mit.edu	37	chr10	134598811	134598811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctctcggtcatgcccagCgagtaggcgagacgcgcgcg	16	13	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:134598811C>T	uc001llr.2	-	2	637	c.552G>A	c.(550-552)TCG>TCA	p.S184S		NM_177400	NP_796374	Q9C056	NKX62_HUMAN	NK6 transcription factor related, locus 2	184	Homeobox.					nucleus	sequence-specific DNA binding transcription factor activity				0		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		TCATGCCCAGCGAGTAGGCGA	0.692													T	134598811	C	T	134598811	2	4	94	1	0	0	0	0	0	0	0	1	10458	755	27	1		1	NKX6-2	10	134598811	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	668023	134598811	935936	1961	61094											
NKX6-2	84504	broad.mit.edu	37	chr10	134598905	134598905	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgctggcccgagaaggtcGggcgcgagtgcttcttcttc	14	12	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:134598905G>T	uc001llr.2	-	2	543	c.458C>A	c.(457-459)CCG>CAG	p.P153Q		NM_177400	NP_796374	Q9C056	NKX62_HUMAN	NK6 transcription factor related, locus 2	153	Homeobox.					nucleus	sequence-specific DNA binding transcription factor activity				0		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		CGAGAAGGTCGGGCGCGAGTG	0.617													T	134598905	G	T	134598905	3	4	94	1	0	0	0	0	1	0	0	0	10458	1116	39	5	383	5	NKX6-2	10	134598905	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	94	134598905	935842	1962	61095											
KNDC1	85442	broad.mit.edu	37	chr10	135015044	135015044	+	Frame_Shift_Del	DEL	C	C	-													ggccaggaccagcagcagggCcccctgctcacccacctcgg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:135015044delC	uc001llz.1	+	17	3030	c.3029delC	c.(3028-3030)GCCfs	p.A1010fs	KNDC1_uc001lma.1_Frame_Shift_Del_p.A945fs|KNDC1_uc001lmb.1_Frame_Shift_Del_p.A422fs	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1010					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGCAGCAGGGCCCCCTGCTCA	0.627													-	135015044	C	-	135015044	7	5	94	1	0	1	0	1	0	0	0	0	8426	739	26	0	3095	0	KNDC1	10	135015044	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	416139	135015044	519703	1963	61096											
VENTX	27287	broad.mit.edu	37	chr10	135053249	135053249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaccatggagcaggtccGcaccttggagggcgtcttcc	12	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:135053249G>A	uc010quy.1	+	2	322	c.311G>A	c.(310-312)CGC>CAC	p.R104H		NM_014468	NP_055283	O95231	VENTX_HUMAN	VENT homeobox	104	Homeobox.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GAGCAGGTCCGCACCTTGGAG	0.587													A	135053249	G	A	135053249	3	1	94	1	0	0	0	0	1	0	0	0	17150	1087	38	1	317	1	VENTX	10	135053249	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	38205	135053249	481498	1964	61097											
ODF3	113746	broad.mit.edu	37	chr11	199980	199980	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgccccagttgtcaccTtcggcatcaaacactctgat	7	16	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:199980T>C	uc001lob.2	+	7	1006	c.712T>C	c.(712-714)TTC>CTC	p.F238L	ODF3_uc010qvk.1_Missense_Mutation_p.F191L|ODF3_uc001loc.2_3'UTR	NM_053280	NP_444510	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	238	DUF1309 2.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				ovary(1)	1		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGTTGTCACCTTCGGCATCAA	0.597													C	199980	T	C	199980	3	2	94	1	0	0	0	0	1	0	0	0	10829	1609	56	3	734	3	ODF3	11	199980	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08		199980	134806536	1965	61098											
PSMD13	5719	broad.mit.edu	37	chr11	251578	251578	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacctgccaatcacagacaActcacttttgaagaaattgc	6	12	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:251578A>G	uc001lol.2	+	11	1112	c.870A>G	c.(868-870)CAA>CAG	p.Q290Q	PSMD13_uc010qvr.1_RNA|PSMD13_uc001loo.2_Silent_p.Q292Q|PSMD13_uc001lon.2_Silent_p.Q225Q|PSMD13_uc001lom.2_Silent_p.Q265Q|PSMD13_uc001lop.2_Silent_p.Q73Q	NM_002817	NP_002808	Q9UNM6	PSD13_HUMAN	proteasome 26S non-ATPase subunit 13 isoform 1	290	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			ovary(1)	1		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		ATCACAGACAACTCACTTTTG	0.378													G	251578	A	G	251578	2	3	94	1	0	0	0	0	0	0	0	1	12696	40	2	3		3	PSMD13	11	251578	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	51598	251578	134754938	1966	61099											
SIGIRR	59307	broad.mit.edu	37	chr11	406540	406541	+	Splice_Site	INS	-	-	G													aaaatcggaggaaggagtctINSgggggccaggtcggggcggt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:406540_406541insG	uc001lpd.2	-	9	1210	c.880_splice	c.e9-1	p.T294_splice	SIGIRR_uc001lpf.2_Splice_Site_p.T294_splice|SIGIRR_uc001lpe.1_Splice_Site_p.T294_splice|SIGIRR_uc001lpg.2_Intron	NM_001135054	NP_001128526	Q6IA17	SIGIR_HUMAN	single Ig IL-1R-related molecule						acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity				0		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAAGGAGTCTGGGGGCCAGGT	0.663													G	406541	-	G	406540	8	5	94	1	0	1	1	0	0	0	1	0	14304	1594	55	0	362	0	SIGIRR	11	406540	Splice_Site	INS	-	TCGA-BR-8487-01A-11D-2394-08	154962	406540	134599976	1967	61100											
PHRF1	57661	broad.mit.edu	37	chr11	607923	607923	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttctccatcaagaagacgAagcagctgcggagcgaggtc	12	11	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:607923A>G	uc001lqe.2	+	14	2598	c.2467A>G	c.(2467-2469)AAG>GAG	p.K823E	PHRF1_uc010qwc.1_Missense_Mutation_p.K822E|PHRF1_uc010qwd.1_Missense_Mutation_p.K821E|PHRF1_uc010qwe.1_Missense_Mutation_p.K819E|PHRF1_uc009ybz.1_Missense_Mutation_p.K613E|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	823							RNA polymerase binding|zinc ion binding				0						CAAGAAGACGAAGCAGCTGCG	0.657													G	607923	A	G	607923	3	3	94	1	0	0	0	0	1	0	0	0	11861	247	9	3	2514	3	PHRF1	11	607923	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	201383	607923	134398593	1968	61101											
SLC25A22	79751	broad.mit.edu	37	chr11	792206	792206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgaagtgactggagccGcgtcttcaccactgcaaggg	13	12	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:792206G>A	uc001lri.2	-	9	1096	c.754C>T	c.(754-756)CGG>TGG	p.R252W	CEND1_uc001lrh.1_5'Flank|SLC25A22_uc009yci.2_Missense_Mutation_p.R252W|SLC25A22_uc001lrj.2_Missense_Mutation_p.R252W	NM_024698	NP_078974	Q9H936	GHC1_HUMAN	mitochondrial glutamate carrier 1	252	Solcar 3.					integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity				0		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	GACTGGAGCCGCGTCTTCACC	0.687													A	792206	G	A	792206	3	1	94	1	0	0	0	0	1	0	0	0	14485	1086	38	1	225	1	SLC25A22	11	792206	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	184283	792206	134214310	1969	61102											
PNPLA2	57104	broad.mit.edu	37	chr11	824014	824014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccctgctggaggcctgCgtggagcccacggacctgct	15	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:824014C>T	uc001lrt.2	+	8	1138	c.936C>T	c.(934-936)TGC>TGT	p.C312C	PNPLA2_uc009ycl.2_Missense_Mutation_p.R124C|EFCAB4A_uc010qwt.1_5'Flank	NM_020376	NP_065109	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	312	Lumenal (Potential).				negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity				0		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGAGGCCTGCGTGGAGCCCA	0.637													T	824014	C	T	824014	2	4	94	1	0	0	0	0	0	0	0	1	12165	776	27	1		1	PNPLA2	11	824014	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	31808	824014	134182502	1970	61103											
AP2A2	161	broad.mit.edu	37	chr11	970290	970290	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaacctgctgagttcaaaCagatacacggaaaagcagat	10	8	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:970290C>T	uc001lss.2	+	3	439	c.258C>T	c.(256-258)AAC>AAT	p.N86N	AP2A2_uc001lst.1_Silent_p.N86N|AP2A2_uc009yco.1_RNA|AP2A2_uc001lsu.1_5'Flank	NM_012305	NP_036437	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2	86					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGAGTTCAAACAGATACACGG	0.527													T	970290	C	T	970290	2	4	94	1	0	0	0	0	0	0	0	1	740	477	17	4		4	AP2A2	11	970290	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	146276	970290	134036226	1971	61104											
MUC6	4588	broad.mit.edu	37	chr11	1019287	1019287	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacttacgcagcgtggggcTtgtccctgatgtggctgggg	17	9	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:1019287T>C	uc001lsw.2	-	30	4069	c.4018A>G	c.(4018-4020)AGC>GGC	p.S1340G		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1340	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCGTGGGGCTTGTCCCTGAT	0.617													C	1019287	T	C	1019287	3	2	94	1	0	0	0	0	1	0	0	0	9980	1609	56	3	3317	3	MUC6	11	1019287	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	48997	1019287	133987229	1972	61105											
MUC6	4588	broad.mit.edu	37	chr11	1020720	1020720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgtggtgggtggctgcgGcgtggtgggcggcactgcaa	22	9	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:1020720G>A	uc001lsw.2	-	28	3655	c.3604C>T	c.(3604-3606)CCG>TCG	p.P1202S		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1202					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGGCTGCGGCGTGGTGGGC	0.672													A	1020720	G	A	1020720	3	1	94	1	0	0	0	0	1	0	0	0	9980	1203	42	2	3739	2	MUC6	11	1020720	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1433	1020720	133985796	1973	61106											
MUC6	4588	broad.mit.edu	37	chr11	1024088	1024088	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgcacgcaggcctcgtagtAgggcaggtggtatacctgca	15	11	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:1024088A>T	uc001lsw.2	-	25	3292	c.3241T>A	c.(3241-3243)TAC>AAC	p.Y1081N		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1081					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCTCGTAGTAGGGCAGGTGG	0.657													T	1024088	A	T	1024088	3	4	94	1	0	0	0	0	1	0	0	0	9980	420	15	5	4114	5	MUC6	11	1024088	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	3368	1024088	133982428	1974	61107											
MUC6	4588	broad.mit.edu	37	chr11	1031855	1031855	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcttcgctcacagtgacgAcggaggcccccagctccacg	12	16	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:1031855A>G	uc001lsw.2	-	3	365	c.314T>C	c.(313-315)GTC>GCC	p.V105A		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	105	VWFD 1.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACAGTGACGACGGAGGCCCC	0.542													G	1031855	A	G	1031855	3	3	94	1	0	0	0	0	1	0	0	0	9980	275	10	3	7129	3	MUC6	11	1031855	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	7767	1031855	133974661	1975	61108											
MUC2	4583	broad.mit.edu	37	chr11	1087532	1087532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagtgcttctgctctgccGtggcctcctacgcccaggag	13	14	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:1087532G>A	uc001lsx.1	+	24	3310	c.3283G>A	c.(3283-3285)GTG>ATG	p.V1095M		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	1095						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTGCTCTGCCGTGGCCTCCTA	0.647													A	1087532	G	A	1087532	3	1	94	1	0	0	0	0	1	0	0	0	9975	1145	40	1	3377	1	MUC2	11	1087532	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	55677	1087532	133918984	1976	61109											
MUC5B	727897	broad.mit.edu	37	chr11	1158955	1158955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctgacccctgcagggaCggtgcttgacgacatcggcc	13	15	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:1158955C>T	uc009ycr.1	+	11	1259	c.1133C>T	c.(1132-1134)ACG>ATG	p.T378M		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	369	TIL 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTGCAGGGACGGTGCTTGAC	0.667													T	1158955	C	T	1158955	3	4	94	1	0	0	0	0	1	0	0	0	9979	551	19	1		1	MUC5B	11	1158955	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	71423	1158955	133847561	1977	61110											
MUC5B	727897	broad.mit.edu	37	chr11	1253994	1253994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcgactggagggacggcGtctgcagtgagtgcccacgc	16	12	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:1253994G>A	uc009ycr.1	+	33	4162	c.4036G>A	c.(4036-4038)GTC>ATC	p.V1346I	MUC5B_uc009yct.1_Missense_Mutation_p.V687I|MUC5B_uc001ltb.2_Missense_Mutation_p.V690I|MUC5B_uc001lta.2_Missense_Mutation_p.V355I	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	687					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GAGGGACGGCGTCTGCAGTGA	0.692													A	1253994	G	A	1253994	3	1	94	1	0	0	0	0	1	0	0	0	9979	1145	40	1	2134	1	MUC5B	11	1253994	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	95039	1253994	133752522	1978	61111											
MUC5B	727897	broad.mit.edu	37	chr11	1257653	1257653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagaggggacctttaaggCggtggcgagagggccgggtg	20	8	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:1257653C>T	uc009ycr.1	+	40	5123	c.4997C>T	c.(4996-4998)GCG>GTG	p.A1666V	MUC5B_uc009yct.1_Missense_Mutation_p.A973V|MUC5B_uc001ltb.2_Missense_Mutation_p.A976V|MUC5B_uc001lta.2_Missense_Mutation_p.A641V	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	973	VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCTTTAAGGCGGTGGCGAGA	0.667													T	1257653	C	T	1257653	3	4	94	1	0	0	0	0	1	0	0	0	9979	768	27	1	3021	1	MUC5B	11	1257653	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3659	1257653	133748863	1979	61112											
MUC5B	727897	broad.mit.edu	37	chr11	1265962	1265962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaaccacgggcttcacaGccaccccctcctccagccca	5	23	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:1265962G>A	uc009ycr.1	+	48	9892	c.9766G>A	c.(9766-9768)GCC>ACC	p.A3256T	MUC5B_uc001ltb.2_Missense_Mutation_p.A2621T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2618	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGCTTCACAGCCACCCCCTC	0.647													A	1265962	G	A	1265962	3	1	94	1	0	0	0	0	1	0	0	0	9979	971	34	2	7983	2	MUC5B	11	1265962	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	8309	1265962	133740554	1980	61113											
TOLLIP	54472	broad.mit.edu	37	chr11	1311503	1311503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccacgcctgggggcaccGtgcagtggatgaccttattc	13	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:1311503G>A	uc001lte.2	-	3	431	c.320C>T	c.(319-321)ACG>ATG	p.T107M	TOLLIP_uc001ltd.2_Missense_Mutation_p.T38M|TOLLIP_uc009ycu.2_Intron|TOLLIP_uc001ltf.2_Missense_Mutation_p.T57M	NM_019009	NP_061882	Q9H0E2	TOLIP_HUMAN	toll interacting protein	107	C2.				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding				0		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		TGGGGGCACCGTGCAGTGGAT	0.617													A	1311503	G	A	1311503	3	1	94	1	0	0	0	0	1	0	0	0	16347	1145	40	1	520	1	TOLLIP	11	1311503	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	45541	1311503	133695013	1981	61114											
TNNT3	7140	broad.mit.edu	37	chr11	1955032	1955032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actttgaagcccggaagaagGaggaggaggagctggtcgct	17	7	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:1955032G>A	uc001luu.3	+	10	465	c.253G>A	c.(253-255)GAG>AAG	p.E85K	TNNT3_uc001lun.2_Intron|TNNT3_uc001luw.3_Missense_Mutation_p.E77K|TNNT3_uc001luo.3_Missense_Mutation_p.E77K|TNNT3_uc001lup.3_Missense_Mutation_p.E83K|TNNT3_uc001luq.3_Missense_Mutation_p.E77K|TNNT3_uc001lur.2_Missense_Mutation_p.E77K|TNNT3_uc010qxf.1_Missense_Mutation_p.E83K|TNNT3_uc010qxg.1_Missense_Mutation_p.E17K	NM_006757	NP_006748	P45378	TNNT3_HUMAN	troponin T3, skeletal, fast isoform 1	96					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			ovary(1)	1		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		CCGGAAGAAGGAGGAGGAGGA	0.607													A	1955032	G	A	1955032	3	1	94	1	0	0	0	0	1	0	0	0	16329	1175	41	4	328	4	TNNT3	11	1955032	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	643529	1955032	133051484	1982	61115											
CARS	833	broad.mit.edu	37	chr11	3040468	3040468	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggagggtgcctgccatggcCgagcactcgatatgccagcc	14	13	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:3040468C>A	uc001lxh.2	-	11	1121	c.1047G>T	c.(1045-1047)TCG>TCT	p.S349S	CARS_uc001lxe.2_Silent_p.S339S|CARS_uc001lxf.2_Silent_p.S432S|CARS_uc001lxg.2_Silent_p.S349S|CARS_uc010qxo.1_Silent_p.S432S|CARS_uc010qxp.1_Silent_p.S362S	NM_001751	NP_001742	P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase isoform b	349					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding		CARS/ALK(5)	soft_tissue(5)|ovary(2)	7		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTGCCATGGCCGAGCACTCGA	0.602			T	ALK	ALCL								A	3040468	C	A	3040468	2	1	94	1	0	0	0	0	0	0	0	1	2657	639	23	5		5	CARS	11	3040468	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1085436	3040468	131966048	1983	61116											
CHRNA10	57053	broad.mit.edu	37	chr11	3687434	3687434	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacacgggccaggcgcttcCagtcctcatggcagcgctgg	13	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:3687434C>A	uc001lyf.2	-	5	1328	c.1256G>T	c.(1255-1257)TGG>TTG	p.W419L	CHRNA10_uc010qxt.1_Missense_Mutation_p.W213L|CHRNA10_uc010qxu.1_Missense_Mutation_p.W213L	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10	419	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			ovary(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	CAGGCGCTTCCAGTCCTCATG	0.637													A	3687434	C	A	3687434	3	1	94	1	0	0	0	0	1	0	0	0	3382	595	21	5	100	5	CHRNA10	11	3687434	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	646966	3687434	131319082	1984	61117											
CHRNA10	57053	broad.mit.edu	37	chr11	3691097	3691097	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgtctgccacaggtcTcagggcacttgtgtagttgg	14	9	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:3691097T>C	uc001lyf.2	-	2	208	c.136A>G	c.(136-138)AGA>GGA	p.R46G	CHRNA10_uc010qxt.1_5'UTR|CHRNA10_uc010qxu.1_5'UTR	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10	46	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			ovary(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GCCACAGGTCTCAGGGCACTT	0.577													C	3691097	T	C	3691097	3	2	94	1	0	0	0	0	1	0	0	0	3382	1559	54	3	1232	3	CHRNA10	11	3691097	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	3663	3691097	131315419	1985	61118											
NUP98	4928	broad.mit.edu	37	chr11	3744675	3744675	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcaacaggtttgcttaGgaaactaaatctgcaaagga	8	8	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:3744675G>T	uc001lyh.2	-	16	2149	c.1858C>A	c.(1858-1860)CTA>ATA	p.L620I	NUP98_uc001lyi.2_Missense_Mutation_p.L620I|NUP98_uc001lyj.1_Missense_Mutation_p.L620I|NUP98_uc001lyk.1_Missense_Mutation_p.L637I	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	637					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GGTTTGCTTAGGAAACTAAAT	0.294			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								T	3744675	G	T	3744675	3	4	94	1	0	0	0	0	1	0	0	0	10773	991	35	5	3637	5	NUP98	11	3744675	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	53578	3744675	131261841	1986	61119											
PGAP2	27315	broad.mit.edu	37	chr11	3838582	3838582	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtatccctcgtgctgcttaGgccacgccctgcaggatgtt	11	13	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:3838582G>T	uc001lys.2	+	3	292	c.166_splice	c.e3-1	p.A56_splice	PGAP2_uc001lyl.2_Intron|PGAP2_uc010qxw.1_Splice_Site_p.A113_splice|PGAP2_uc010qxx.1_Intron|PGAP2_uc001lyp.3_Intron|PGAP2_uc010qxy.1_Intron|PGAP2_uc010qxz.1_Intron|PGAP2_uc001lyn.3_Intron|PGAP2_uc010qya.1_Intron|PGAP2_uc001lyr.2_Intron|PGAP2_uc010qyb.1_Intron|PGAP2_uc001lyt.2_Intron	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1						GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0						GTGCTGCTTAGGCCACGCCCT	0.592													T	3838582	G	T	3838582	5	4	94	1	0	0	0	0	0	0	1	0	11778	1014	35	5	350	5	PGAP2	11	3838582	Splice_Site	SNP	G	TCGA-BR-8487-01A-11D-2394-08	93907	3838582	131167934	1987	61120											
PGAP2	27315	broad.mit.edu	37	chr11	3846609	3846609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtcttaaccaacatggCgttccacatgacggcctggt	10	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:3846609C>T	uc001lys.2	+	7	995	c.869C>T	c.(868-870)GCG>GTG	p.A290V	PGAP2_uc001lyl.2_Missense_Mutation_p.A247V|PGAP2_uc010qxw.1_Missense_Mutation_p.A347V|PGAP2_uc010qxx.1_3'UTR|PGAP2_uc001lyp.3_3'UTR|PGAP2_uc010qxy.1_Missense_Mutation_p.A282V|PGAP2_uc010qxz.1_Missense_Mutation_p.A286V|PGAP2_uc001lyn.3_3'UTR|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_3'UTR|PGAP2_uc010qyb.1_3'UTR|PGAP2_uc001lyt.2_Missense_Mutation_p.A73V	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	290	Helical; (Potential).				GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0						ACCAACATGGCGTTCCACATG	0.522											OREG0020703	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	3846609	C	T	3846609	3	4	94	1	0	0	0	0	1	0	0	0	11778	768	27	1	1070	1	PGAP2	11	3846609	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	8027	3846609	131159907	1988	61121											
OR51M1	390059	broad.mit.edu	37	chr11	5411436	5411436	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctttgtgcccatgatggggCtgtccctggtgcaccgtttt	12	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:5411436C>A	uc010qzc.1	+	1	808	c.808C>A	c.(808-810)CTG>ATG	p.L270M	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M,	270						integral to membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGATGGGGCTGTCCCTGGT	0.542													A	5411436	C	A	5411436	3	1	94	1	0	0	0	0	1	0	0	0	11103	796	28	5	810	5	OR51M1	11	5411436	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1564827	5411436	129595080	1989	61122											
UBQLNL	143630	broad.mit.edu	37	chr11	5537100	5537100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttctgaaatgaactgccacAtgaactccatgttggacaga	9	9	1	4	rs143166303	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:5537100A>G	uc001maz.3	-	1	857	c.572T>C	c.(571-573)ATG>ACG	p.M191T	HBG2_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	191										large_intestine(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GAACTGCCACATGAACTCCAT	0.468													G	5537100	A	G	5537100	3	3	94	1	0	0	0	0	1	0	0	0	16897	217	8	3	859	3	UBQLNL	11	5537100	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	125664	5537100	129469416	1990	61123											
FAM160A2	84067	broad.mit.edu	37	chr11	6245178	6245178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacgaactggaccatgccGcaacagtggctggcgagctt	12	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:6245178G>A	uc001mcl.3	-	3	798	c.439C>T	c.(439-441)CGG>TGG	p.R147W	FAM160A2_uc001mck.3_Missense_Mutation_p.R147W|FAM160A2_uc001mcm.2_Missense_Mutation_p.R147W	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	147					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						GGACCATGCCGCAACAGTGGC	0.592													A	6245178	G	A	6245178	3	1	94	1	0	0	0	0	1	0	0	0	5469	1086	38	1	2561	1	FAM160A2	11	6245178	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	708078	6245178	128761338	1991	61124											
PRKCDBP	112464	broad.mit.edu	37	chr11	6340490	6340490	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggctctggctccagcgtgGgctccagcgcaggctgggct	17	13	1	0	rs150739333		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:6340490G>T	uc001mcu.1	-	2	723	c.689C>A	c.(688-690)CCC>CAC	p.P230H		NM_145040	NP_659477	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	230											0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCCAGCGTGGGCTCCAGCGC	0.697													T	6340490	G	T	6340490	3	4	94	1	0	0	0	0	1	0	0	0	12510	1232	43	5	100	5	PRKCDBP	11	6340490	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	95312	6340490	128666026	1992	61125											
TPP1	1200	broad.mit.edu	37	chr11	6636152	6636152	+	Frame_Shift_Del	DEL	G	G	-													ttgggttgagaaagccaagaGgggggcggccactaaggatc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:6636152delG	uc001mel.1	-	12	1557	c.1496delC	c.(1495-1497)CCTfs	p.P499fs	TAF10_uc001mej.1_5'Flank|TPP1_uc001mek.1_Frame_Shift_Del_p.P256fs	NM_000391	NP_000382	O14773	TPP1_HUMAN	tripeptidyl-peptidase I preproprotein	499					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		AAAGCCAAGAGGGGGGCGGCC	0.517													-	6636152	G	-	6636152	7	5	94	1	0	1	0	1	0	0	0	0	16408	1000	35	0	203	0	TPP1	11	6636152	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	295662	6636152	128370364	1993	61126											
DCHS1	8642	broad.mit.edu	37	chr11	6648096	6648096	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgctcagcttccccctgCagtccaacaatgatcacacc	5	19	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:6648096C>T	uc001mem.1	-	14	6584	c.6174G>A	c.(6172-6174)CTG>CTA	p.L2058L		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2058	Cadherin 19.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCCCCCTGCAGTCCAACAA	0.607													T	6648096	C	T	6648096	2	4	94	1	0	0	0	0	0	0	0	1	4287	697	25	2		2	DCHS1	11	6648096	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	11944	6648096	128358420	1994	61127											
OR2D2	120776	broad.mit.edu	37	chr11	6913347	6913347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgttagggtaacgcagagGattgcagattgcaacatagc	13	6	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:6913347G>A	uc010rau.1	-	1	385	c.385C>T	c.(385-387)CCT>TCT	p.P129S		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TAACGCAGAGGATTGCAGATT	0.498													A	6913347	G	A	6913347	3	1	94	1	0	0	0	0	1	0	0	0	10994	1174	41	4	544	4	OR2D2	11	6913347	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	265251	6913347	128093169	1995	61128											
OR10A6	390093	broad.mit.edu	37	chr11	7949288	7949288	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgtgtgtaaaaccactcGccttcgccataatttcatca	6	11	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:7949288G>A	uc010rbh.1	-	1	922	c.922C>T	c.(922-924)CGA>TGA	p.R308*		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAACCACTCGCCTTCGCCAT	0.368													A	7949288	G	A	7949288	4	1	94	1	0	0	0	0	0	1	0	0	10894	1095	38	1	25	1	OR10A6	11	7949288	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1035941	7949288	127057228	1996	61129											
OR10A6	390093	broad.mit.edu	37	chr11	7949596	7949596	+	Frame_Shift_Del	DEL	A	A	-													agaaaggaaccaaaataatcAaaaaggtgcctgtgaatgca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:7949595_7949595CA>C	uc010rbh.2	-	0	615	c.615_615TG>G	c.(613-615)ttgfs	p.L205fs		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCAAAATAATCAAAAAGGTGC	0.388													-	7949596	A	-	7949596	7	5	94	1	0	1	0	1	0	0	0	0	10894	131	5	0	333	0	OR10A6	11	7949596	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	308	7949596	127056920	1997	61130											
ST5	6764	broad.mit.edu	37	chr11	8751578	8751578	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggggtggagggcaagggaGgtggagcagcaggtgtgggt	24	4	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:8751578G>T	uc001mgt.2	-	3	1445	c.1259C>A	c.(1258-1260)CCT>CAT	p.P420H	ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Missense_Mutation_p.P420H|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Missense_Mutation_p.P420H	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	420	Pro-rich.|Interaction with ABL1.				positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGGCAAGGGAGGTGGAGCAGC	0.607													T	8751578	G	T	8751578	3	4	94	1	0	0	0	0	1	0	0	0	15219	1000	35	5	2226	5	ST5	11	8751578	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	801982	8751578	126254938	1998	61131											
SCUBE2	57758	broad.mit.edu	37	chr11	9111333	9111333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtgttctgacacagggcGtcggcatggcagtcatctag	15	9	3	1	rs143387393		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:9111333G>A	uc001mhh.1	-	2	257	c.177C>T	c.(175-177)GAC>GAT	p.D59D	SCUBE2_uc001mhi.1_Silent_p.D59D|SCUBE2_uc001mhj.1_Silent_p.D59D	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	59	EGF-like 1; calcium-binding (Potential).					extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GACACAGGGCGTCGGCATGGC	0.557													A	9111333	G	A	9111333	2	1	94	1	0	0	0	0	0	0	0	1	13945	1136	40	1		1	SCUBE2	11	9111333	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	359755	9111333	125895183	1999	61132											
SWAP70	23075	broad.mit.edu	37	chr11	9771475	9771476	+	Frame_Shift_Del	DEL	AG	AG	-													ttcactgaggcagaacttgaAgagagagagaagaactggaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:9771474_9771475AAG>A	uc001mhw.3	+	11	1814_1815	c.1715_1716AAG>A	c.(1714-1716)gaafs	p.E572fs	SWAP70_uc001mhx.3_Frame_Shift_Del_p.E514fs	NM_015055	NP_055870	Q9UH65	SWP70_HUMAN	Homo sapiens SWAP switching B-cell complex 70kDa subunit (SWAP70), mRNA.	572						cytoplasm|lamellipodium|nucleus|plasma membrane	DNA binding|calcium ion binding	p.K576fs*>10(1)		NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GCAGAACTTGAAGAGAGAGAGA	0.455													-	9771476	AG	-	9771475	7	5	94	1	0	1	0	1	0	0	0	0	15422	69	3	0	1762	0	SWAP70	11	9771475	Frame_Shift_Del	DEL	AG	TCGA-BR-8487-01A-11D-2394-08	660142	9771475	125235041	2000	61133											
CTR9	9646	broad.mit.edu	37	chr11	10776596	10776596	+	Frame_Shift_Del	DEL	A	A	-													tttggactatagagaccatgAaaaagaccagatgacttgct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:10776596delA	uc001mja.2	+	3	385	c.236delA	c.(235-237)GAAfs	p.E79fs		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	79					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGAGACCATGAAAAAGACCAG	0.373													-	10776596	A	-	10776596	7	5	94	1	0	1	0	1	0	0	0	0	4024	246	9	0	246	0	CTR9	11	10776596	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	1005121	10776596	124229920	2001	61134											
GALNTL4	374378	broad.mit.edu	37	chr11	11314737	11314737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgactgctcgtgtagtacaCgttctgggggcggagggagg	18	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:11314737C>T	uc001mjo.2	-	10	1937	c.1516G>A	c.(1516-1518)GTG>ATG	p.V506M		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	506	Lumenal (Potential).|Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		GTGTAGTACACGTTCTGGGGG	0.597													T	11314737	C	T	11314737	3	4	94	1	0	0	0	0	1	0	0	0	6223	536	19	1	315	1	GALNTL4	11	11314737	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	538141	11314737	123691779	2002	61135											
PDE3B	5140	broad.mit.edu	37	chr11	14666165	14666165	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttggggggatggcgacgcaGggtccgcggccccgcacacg	18	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:14666165G>T	uc001mln.2	+	1	897	c.544G>T	c.(544-546)GGG>TGG	p.G182W	PDE3B_uc001mlm.2_Missense_Mutation_p.G182W|PDE3B_uc010rcr.1_Missense_Mutation_p.G182W|PSMA1_uc001mll.2_5'Flank	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	182					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						TGGCGACGCAGGGTCCGCGGC	0.726													T	14666165	G	T	14666165	3	4	94	1	0	0	0	0	1	0	0	0	11638	1000	35	5	546	5	PDE3B	11	14666165	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3351428	14666165	120340351	2003	61136											
PDE3B	5140	broad.mit.edu	37	chr11	14666522	14666522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccagctgcgtgtcgttaGgagaaactgcagccagttac	13	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:14666522G>A	uc001mln.2	+	1	1254	c.901G>A	c.(901-903)GGA>AGA	p.G301R	PDE3B_uc001mlm.2_Missense_Mutation_p.G301R|PDE3B_uc010rcr.1_Missense_Mutation_p.G301R|PSMA1_uc001mll.2_5'Flank	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	301					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						CGTGTCGTTAGGAGAAACTGC	0.527													A	14666522	G	A	14666522	3	1	94	1	0	0	0	0	1	0	0	0	11638	1001	35	4	903	4	PDE3B	11	14666522	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	357	14666522	120339994	2004	61137											
INSC	387755	broad.mit.edu	37	chr11	15260573	15260573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcagtgaccctggctcGtctcagccgagacccagatg	12	14	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:15260573G>A	uc001mly.2	+	11	1533	c.1487G>A	c.(1486-1488)CGT>CAT	p.R496H	INSC_uc001mlz.2_Missense_Mutation_p.R449H|INSC_uc001mma.2_Missense_Mutation_p.R449H|INSC_uc010rcs.1_Missense_Mutation_p.R484H|INSC_uc001mmb.2_Missense_Mutation_p.R449H|INSC_uc001mmc.2_Missense_Mutation_p.R407H	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	496					cell differentiation|nervous system development	cytoplasm	binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						ACCCTGGCTCGTCTCAGCCGA	0.607													A	15260573	G	A	15260573	3	1	94	1	0	0	0	0	1	0	0	0	7764	1145	40	1	1529	1	INSC	11	15260573	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	594051	15260573	119745943	2005	61138											
PIK3C2A	5286	broad.mit.edu	37	chr11	17158165	17158165	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacttgatctactgctcggTgttggttctttaaaaataaa	7	6	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:17158165T>G	uc001mmq.3	-	8	1778	c.1712A>C	c.(1711-1713)CAC>CCC	p.H571P	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.H191P|PIK3C2A_uc001mmr.3_Intron|PIK3C2A_uc010rcx.1_Missense_Mutation_p.H571P	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	571					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	TACTGCTCGGTGTTGGTTCtt	0.328													G	17158165	T	G	17158165	3	3	94	1	0	0	0	0	1	0	0	0	11909	1696	59	5	3448	5	PIK3C2A	11	17158165	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1897592	17158165	117848351	2006	61139											
KCNC1	3746	broad.mit.edu	37	chr11	17758117	17758117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtactcgtcccgctacgcgCgggtaagtgacaatttaccc	10	14	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:17758117C>T	uc001mnk.3	+	1	623	c.568C>T	c.(568-570)CGG>TGG	p.R190W	KCNC1_uc009yhc.1_Missense_Mutation_p.R190W	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	190	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						CCGCTACGCGCGGGTAAGTGA	0.692													T	17758117	C	T	17758117	3	4	94	1	0	0	0	0	1	0	0	0	8014	759	27	1	570	1	KCNC1	11	17758117	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	599952	17758117	117248399	2007	61140											
KCNC1	3746	broad.mit.edu	37	chr11	17794004	17794004	+	Frame_Shift_Del	DEL	A	A	-													ctaagcagaaactaccaaagAaaaaaaagaagcatattccg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:17794003_17794003GA>G	uc009yhc.1	+	1	1417	c.1362_1362GA>G	c.(1360-1362)aagfs	p.K454fs	KCNC1_uc001mnk.4_Frame_Shift_Del_p.K454fs	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	454						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AACTACCAAAGAAAAAAAAGA	0.502													-	17794004	A	-	17794004	7	5	94	1	0	1	0	1	0	0	0	0	8014	247	9	0	1369	0	KCNC1	11	17794004	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	35887	17794004	117212512	2008	61141											
SAAL1	113174	broad.mit.edu	37	chr11	18103046	18103046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttactccctgagccaccGtctcctaaaacaacaacaag	4	16	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:18103046G>A	uc001mnq.2	-	11	1294	c.1244C>T	c.(1243-1245)ACG>ATG	p.T415M	SAAL1_uc001mnr.2_Missense_Mutation_p.T414M|SAAL1_uc001mns.2_RNA|SAAL1_uc009yhf.2_Missense_Mutation_p.T417M	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	415					acute-phase response	extracellular region	binding				0						CTGAGCCACCGTCTCCTAAAA	0.388													A	18103046	G	A	18103046	3	1	94	1	0	0	0	0	1	0	0	0	13801	1145	40	1	188	1	SAAL1	11	18103046	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	309042	18103046	116903470	2009	61142											
LUZP2	338645	broad.mit.edu	37	chr11	24750763	24750763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaagaagtctttaaggaGcgaagcaccattcttcgtca	9	9	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:24750763G>A	uc001mqs.2	+	2	345	c.111G>A	c.(109-111)GAG>GAA	p.E37E	LUZP2_uc009yif.2_5'UTR|LUZP2_uc009yig.2_Silent_p.E37E	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2 precursor	37	Potential.					extracellular region				ovary(1)|skin(1)	2						TCTTTAAGGAGCGAAGCACCA	0.433													A	24750763	G	A	24750763	2	1	94	1	0	0	0	0	0	0	0	1	9087	962	34	2		2	LUZP2	11	24750763	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	6647717	24750763	110255753	2010	61143											
MUC15	143662	broad.mit.edu	37	chr11	26587274	26587274	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttccaaagaaataggtttAttttccattgttttaaaaac	4	6	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:26587274A>T	uc001mqx.2	-	2	398	c.132T>A	c.(130-132)AAT>AAA	p.N44K	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.N71K|MUC15_uc001mqy.2_Missense_Mutation_p.N71K	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b	44	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						AAATAGGTTTATTTTCCATTG	0.348													T	26587274	A	T	26587274	3	4	94	1	0	0	0	0	1	0	0	0	9972	446	16	5	884	5	MUC15	11	26587274	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1836511	26587274	108419242	2011	61144											
LIN7C	55327	broad.mit.edu	37	chr11	27523455	27523455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttttccaataattcaattGctctacaaatatctagagtt	4	7	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:27523455G>A	uc001mrl.2	-	2	77	c.50C>T	c.(49-51)GCA>GTA	p.A17V	LIN7C_uc009yii.2_Missense_Mutation_p.A17V	NM_018362	NP_060832	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C	17	L27.				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction					0						TAATTCAATTGCTCTACAAAT	0.388													A	27523455	G	A	27523455	3	1	94	1	0	0	0	0	1	0	0	0	8812	1319	46	2	559	2	LIN7C	11	27523455	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	936181	27523455	107483061	2012	61145											
BDNF	627	broad.mit.edu	37	chr11	27679877	27679877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttattgttttcttcattggGccgaactttctggtcctcat	7	10	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:27679877G>A	uc010rdu.1	-	2	1086	c.235C>T	c.(235-237)CCC>TCC	p.P79S	BDNFOS_uc001mrm.2_RNA|BDNFOS_uc009yij.2_RNA|BDNFOS_uc009yik.2_RNA|BDNFOS_uc009yil.2_RNA|BDNFOS_uc001mrp.2_RNA|BDNFOS_uc009yim.2_RNA|BDNFOS_uc009yin.2_RNA|BDNFOS_uc009yio.2_RNA|BDNFOS_uc009yip.2_RNA|BDNFOS_uc001mrn.2_RNA|BDNFOS_uc009yiq.2_RNA|BDNFOS_uc001mro.2_RNA|BDNFOS_uc009yir.2_RNA|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_RNA|BDNFOS_uc009yiu.2_RNA|BDNFOS_uc009yiv.2_RNA|BDNFOS_uc009yiw.2_RNA|BDNFOS_uc009yix.2_RNA|BDNFOS_uc009yiy.2_RNA|BDNFOS_uc009yiz.2_RNA|BDNFOS_uc001mrq.3_RNA|BDNFOS_uc001mrr.3_RNA|BDNFOS_uc009yja.2_RNA|BDNFOS_uc009yjb.2_RNA|BDNF_uc010rdv.1_Missense_Mutation_p.P79S|BDNF_uc001mrt.2_Missense_Mutation_p.P94S|BDNF_uc010rdw.1_Missense_Mutation_p.P79S|BDNF_uc009yjd.2_Missense_Mutation_p.P79S|BDNF_uc001mru.2_Missense_Mutation_p.P79S|BDNF_uc010rdx.1_Missense_Mutation_p.P79S|BDNF_uc010rdy.1_Missense_Mutation_p.P79S|BDNF_uc009yjg.2_Missense_Mutation_p.P79S|BDNF_uc009yje.2_Missense_Mutation_p.P161S|BDNF_uc009yjf.2_Missense_Mutation_p.P108S|BDNF_uc001mrv.2_Missense_Mutation_p.P79S|BDNF_uc001mrw.3_Missense_Mutation_p.P79S|BDNF_uc001mrx.2_Missense_Mutation_p.P79S|BDNF_uc001mry.3_Missense_Mutation_p.P79S|BDNF_uc001mrz.3_Missense_Mutation_p.P79S|BDNF_uc001msa.2_Missense_Mutation_p.P87S	NM_001143816	NP_001137288	P23560	BDNF_HUMAN	brain-derived neurotrophic factor isoform a	79						extracellular region	growth factor activity				0						TCTTCATTGGGCCGAACTTTC	0.502													A	27679877	G	A	27679877	3	1	94	1	0	0	0	0	1	0	0	0	1394	1203	42	2	512	2	BDNF	11	27679877	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	156422	27679877	107326639	2013	61146											
EIF3M	10480	broad.mit.edu	37	chr11	32623875	32623875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtggcaacaactgtatgAcacacttaatgcctggaaac	9	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:32623875A>G	uc001mtu.2	+	11	1098	c.1055A>G	c.(1054-1056)GAC>GGC	p.D352G	CCDC73_uc001mtv.2_3'UTR|EIF3M_uc010ref.1_Missense_Mutation_p.D220G	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3,	352	Interaction with HSV-1 and HSV-2.					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)|breast(1)|skin(1)	3	Breast(20;0.109)					CAACTGTATGACACACTTAAT	0.348													G	32623875	A	G	32623875	3	3	94	1	0	0	0	0	1	0	0	0	5023	275	10	3	1097	3	EIF3M	11	32623875	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	4943998	32623875	102382641	2014	61147											
QSER1	79832	broad.mit.edu	37	chr11	32956107	32956107	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcatgaagtccaggagcaAagttctggcccattcaagaa	10	9	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:32956107A>G	uc001mty.2	+	4	3183	c.2916A>G	c.(2914-2916)CAA>CAG	p.Q972Q	QSER1_uc001mtz.1_Silent_p.Q733Q|QSER1_uc001mua.2_Silent_p.Q477Q	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	972										ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					TCCAGGAGCAAAGTTCTGGCC	0.393													G	32956107	A	G	32956107	2	3	94	1	0	0	0	0	0	0	0	1	12882	11	1	3		3	QSER1	11	32956107	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	332232	32956107	102050409	2015	61148											
CSTF3	1479	broad.mit.edu	37	chr11	33108546	33108546	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttacgtgctaaatgtcGtggctgaaatggaatcatct	11	7	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:33108546G>A	uc001muh.2	-	18	1949	c.1783C>T	c.(1783-1785)CGA>TGA	p.R595*	TCP11L1_uc001muf.1_Intron	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	cleavage stimulation factor subunit 3 isoform 1	595	Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding				0						GCTAAATGTCGTGGCTGAAAT	0.428													A	33108546	G	A	33108546	4	1	94	1	0	0	0	0	0	1	0	0	3986	1153	40	1	386	1	CSTF3	11	33108546	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	152439	33108546	101897970	2016	61149											
C11orf41	25758	broad.mit.edu	37	chr11	33640107	33640107	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaactctgtctacagaAgccggcagtctctgaacagc	10	11	3	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:33640107A>G	uc001mup.3	+	15	4559	c.4435A>G	c.(4435-4437)AGC>GGC	p.S1479G		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1473						integral to membrane				ovary(2)	2						TGTCTACAGAAGCCGGCAGTC	0.522													G	33640107	A	G	33640107	3	3	94	1	0	0	0	0	1	0	0	0	1640	72	3	3	4493	3	C11orf41	11	33640107	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	531561	33640107	101366409	2017	61150											
TTC17	55761	broad.mit.edu	37	chr11	43428962	43428962	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatactggagagcagtaggAaatagcacttttgctattgc	10	7	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:43428962A>G	uc001mxi.2	+	15	1913	c.1899A>G	c.(1897-1899)GGA>GGG	p.G633G	TTC17_uc001mxh.2_Silent_p.G633G|TTC17_uc010rfj.1_Silent_p.G576G|TTC17_uc001mxj.2_Silent_p.G403G	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	633	TPR 2.						binding			ovary(5)	5						GAGCAGTAGGAAATAGCACTT	0.403													G	43428962	A	G	43428962	2	3	94	1	0	0	0	0	0	0	0	1	16681	233	9	3		3	TTC17	11	43428962	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	9788855	43428962	91577554	2018	61151											
HSD17B12	51144	broad.mit.edu	37	chr11	43876274	43876274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctttctagagtgtcctgCcatacttcgtagctacaaaa	6	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:43876274C>T	uc001mxq.3	+	10	929	c.694C>T	c.(694-696)CCA>TCA	p.P232S		NM_016142	NP_057226	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	232					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity				0						GAGTGTCCTGCCATACTTCGT	0.468													T	43876274	C	T	43876274	3	4	94	1	0	0	0	0	1	0	0	0	7381	739	26	2	732	2	HSD17B12	11	43876274	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	447312	43876274	91130242	2019	61152											
ACCS	84680	broad.mit.edu	37	chr11	44105022	44105022	+	Frame_Shift_Del	DEL	T	T	-													aaatgctgctctggcgccgcTttttggacaacaaggtgctg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:44105021_44105021CT>C	uc009yks.1	+	13	1446	c.1302_1302CT>C	c.(1300-1302)cgcfs	p.R434fs	EXT2_uc010rfo.2_Intron|ACCS_uc001mxx.2_Frame_Shift_Del_p.R434fs	NM_001127219	NP_115981	Q96QU6	1A1L1_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) (ACCS), transcript variant 2, mRNA.	434							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.R434H(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TCTGGCGCCGCTTTTTGGACA	0.567													-	44105022	T	-	44105022	7	5	94	1	0	1	0	1	0	0	0	0	133	1609	56	0	1353	0	ACCS	11	44105022	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	228748	44105022	90901494	2020	61153											
SLC35C1	55343	broad.mit.edu	37	chr11	45832837	45832837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggagatgaagaagactcCggaggagcccagccccaaag	14	11	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:45832837C>T	uc001nbp.2	+	2	1758	c.1046C>T	c.(1045-1047)CCG>CTG	p.P349L	SLC35C1_uc001nbo.2_Missense_Mutation_p.P336L|SLC35C1_uc010rgm.1_Missense_Mutation_p.P336L	NM_018389	NP_060859	Q96A29	FUCT1_HUMAN	GDP-fucose transporter 1 isoform a	349						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity				0				GBM - Glioblastoma multiforme(35;0.227)		AAGAAGACTCCGGAGGAGCCC	0.667													T	45832837	C	T	45832837	3	4	94	1	0	0	0	0	1	0	0	0	14579	652	23	1	1052	1	SLC35C1	11	45832837	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1727815	45832837	89173679	2021	61154											
CRY2	1408	broad.mit.edu	37	chr11	45891725	45891725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccctgtgggctttggccGtcgcacggaccccagtgggg	16	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:45891725G>A	uc010rgn.1	+	8	1401	c.1379G>A	c.(1378-1380)CGT>CAT	p.R460H	CRY2_uc009ykw.2_Missense_Mutation_p.R378H|CRY2_uc010rgo.1_Missense_Mutation_p.R182H	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like) isoform 1	439	FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			central_nervous_system(1)	1						GGCTTTGGCCGTCGCACGGAC	0.592													A	45891725	G	A	45891725	3	1	94	1	0	0	0	0	1	0	0	0	3904	1145	40	1	1445	1	CRY2	11	45891725	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	58888	45891725	89114791	2022	61155											
AMBRA1	55626	broad.mit.edu	37	chr11	46567255	46567255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtggcaatcagcaggagCtgagccgtagggtggaaagc	17	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:46567255C>T	uc010rgu.1	-	5	810	c.450G>A	c.(448-450)CAG>CAA	p.Q150Q	AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Silent_p.Q150Q|AMBRA1_uc001ncu.1_Silent_p.Q150Q|AMBRA1_uc001ncv.2_Silent_p.Q150Q|AMBRA1_uc001ncw.2_Silent_p.Q150Q|AMBRA1_uc001ncx.2_Silent_p.Q150Q	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	150	WD 3.				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TCAGCAGGAGCTGAGCCGTAG	0.532													T	46567255	C	T	46567255	2	4	94	1	0	0	0	0	0	0	0	1	565	796	28	2		2	AMBRA1	11	46567255	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	675530	46567255	88439261	2023	61156											
LRP4	4038	broad.mit.edu	37	chr11	46880748	46880749	+	Frame_Shift_Ins	INS	-	-	C													tacatgatcccggaggaggcINSccccccgtgagcttcgcagt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:46880747_46880748G>GC	uc001ndn.4	-	37	5747_5748	c.5504_5505C>GC	c.(5503-5505)ggcfs	p.G1835fs	LOC100507401_uc001ndl.3_Intron|LRP4_uc001ndm.4_Frame_Shift_Ins_p.G77fs	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1835					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCCGGAGGAGGCCCCCCCGTGA	0.564													C	46880749	-	C	46880748	7	5	94	1	0	1	1	0	0	0	0	0	8959	739	26	0	217	0	LRP4	11	46880748	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	313493	46880748	88125768	2024	61157											
LRP4	4038	broad.mit.edu	37	chr11	46920202	46920202	+	Frame_Shift_Del	DEL	C	C	-													gccactgtcacacatgaactCcccagagcggcagggctggt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:46920201_46920201TC>T	uc001ndn.4	-	6	947	c.704_704GA>A	c.(703-705)gagfs	p.E235fs	LRP4_uc009ylh.2_Frame_Shift_Del_p.E186fs	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	235	LDL-receptor class A 6.				Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ACACATGAACTCCCCAGAGCG	0.592													-	46920202	C	-	46920202	7	5	94	1	0	1	0	1	0	0	0	0	8959	864	30	0	5142	0	LRP4	11	46920202	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	39454	46920202	88086314	2025	61158											
ARFGAP2	84364	broad.mit.edu	37	chr11	47196629	47196629	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtgattaggaacggcactActcatgttgtctatccaaag	10	8	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:47196629A>G	uc001ndt.2	-	5	432	c.417T>C	c.(415-417)AGT>AGC	p.S139S	ARFGAP2_uc010rha.1_5'Flank|ARFGAP2_uc010rhb.1_Intron|ARFGAP2_uc001ndu.2_Intron|ARFGAP2_uc010rhc.1_Intron|ARFGAP2_uc010rhd.1_Silent_p.S139S|ARFGAP2_uc001ndv.1_3'UTR	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating	139	Required for interaction with coatomer.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			ovary(1)	1						GAACGGCACTACTCATGTTGT	0.493													G	47196629	A	G	47196629	2	3	94	1	0	0	0	0	0	0	0	1	850	388	14	3		3	ARFGAP2	11	47196629	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	276427	47196629	87809887	2026	61159											
MADD	8567	broad.mit.edu	37	chr11	47317472	47317472	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaatagctctggagagaccCttggagctgacagtgacttg	13	8	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:47317472C>A	uc001ner.1	+	24	3816	c.3625C>A	c.(3625-3627)CTT>ATT	p.L1209I	MADD_uc001neq.2_Missense_Mutation_p.L1171I|MADD_uc001nev.1_Missense_Mutation_p.L1128I|MADD_uc001nes.1_Missense_Mutation_p.L1148I|MADD_uc001net.1_Missense_Mutation_p.L1191I|MADD_uc009yln.1_Missense_Mutation_p.L1124I|MADD_uc001neu.1_Missense_Mutation_p.L1128I|MADD_uc001nex.2_Missense_Mutation_p.L1209I|MADD_uc001nez.2_Missense_Mutation_p.L1127I|MADD_uc001new.2_Missense_Mutation_p.L1170I|MADD_uc009ylo.2_Missense_Mutation_p.L123I	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	1209	Ser-rich.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		TGGAGAGACCCTTGGAGCTGA	0.537													A	47317472	C	A	47317472	3	1	94	1	0	0	0	0	1	0	0	0	9152	681	24	5	3715	5	MADD	11	47317472	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	120843	47317472	87689044	2027	61160											
PTPMT1	114971	broad.mit.edu	37	chr11	47593160	47593160	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggcaacaaaggatgggacTtttgtcatttcaaagacatg	11	7	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:47593160T>G	uc001nfs.3	+	4	778	c.585T>G	c.(583-585)ACT>ACG	p.T195T	PTPMT1_uc001nfv.3_3'UTR|PTPMT1_uc009ylt.2_Silent_p.T131T|PTPMT1_uc001nfu.3_3'UTR|NDUFS3_uc001nft.3_5'UTR	NM_175732	NP_783859	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	195					inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(1)	1						AGGATGGGACTTTTGTCATTT	0.453													G	47593160	T	G	47593160	2	3	94	1	0	0	0	0	0	0	0	1	12778	1596	56	5		5	PTPMT1	11	47593160	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	275688	47593160	87413356	2028	61161											
FNBP4	23360	broad.mit.edu	37	chr11	47746087	47746087	+	Frame_Shift_Del	DEL	G	G	-													cttcctctgttcctggggcaGggggctcctcacttccctca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:47746087delG	uc009ylv.2	-	13	2405	c.2252delC	c.(2251-2253)CCTfs	p.P751fs	FNBP4_uc001ngi.2_Frame_Shift_Del_p.P65fs|FNBP4_uc001ngj.2_Frame_Shift_Del_p.P658fs|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	751										ovary(1)	1						TCCTGGGGCAGGGGGCTCCTC	0.428													-	47746087	G	-	47746087	7	5	94	1	0	1	0	1	0	0	0	0	5967	1000	35	0	821	0	FNBP4	11	47746087	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	152927	47746087	87260429	2029	61162											
FNBP4	23360	broad.mit.edu	37	chr11	47776158	47776158	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggattgtgctagtttttcGgaaacatcattgtcatcgtc	9	7	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:47776158G>A	uc009ylv.2	-	3	525	c.372C>T	c.(370-372)TCC>TCT	p.S124S	FNBP4_uc001ngj.2_Silent_p.S31S|FNBP4_uc001ngl.2_Intron	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	124										ovary(1)	1						CTAGTTTTTCGGAAACATCAT	0.403													A	47776158	G	A	47776158	2	1	94	1	0	0	0	0	0	0	0	1	5967	1103	39	1		1	FNBP4	11	47776158	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	30071	47776158	87230358	2030	61163											
PTPRJ	5795	broad.mit.edu	37	chr11	48188902	48188902	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatttggaaagaccaatggTtacatcgcctaattccaaag	7	9	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:48188902T>C	uc001ngp.3	+	25	4357	c.4002T>C	c.(4000-4002)GGT>GGC	p.G1334G		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1334	Cytoplasmic (Potential).				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						AGACCAATGGTTACATCGCCT	0.453													C	48188902	T	C	48188902	2	2	94	1	0	0	0	0	0	0	0	1	12804	1712	60	3		3	PTPRJ	11	48188902	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	412744	48188902	86817614	2031	61164											
OR4C12	283093	broad.mit.edu	37	chr11	50003277	50003277	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactgagcgcagatacacaAatatacagggcacaaagaat	8	9	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:50003277A>G	uc010ria.1	-	1	761	c.761T>C	c.(760-762)TTT>TCT	p.F254S		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	254	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						CAGATACACAAATATACAGGG	0.423													G	50003277	A	G	50003277	3	3	94	1	0	0	0	0	1	0	0	0	11046	14	1	3	172	3	OR4C12	11	50003277	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1814375	50003277	85003239	2032	61165											
OR5D14	219436	broad.mit.edu	37	chr11	55563737	55563737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatccgttctgttagtgggCgccacaaagccttctccacc	8	14	2	0	rs145440752	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:55563737C>T	uc010rim.1	+	1	706	c.706C>T	c.(706-708)CGC>TGC	p.R236C		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	236	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)				TGTTAGTGGGCGCCACAAAGC	0.463													T	55563737	C	T	55563737	3	4	94	1	0	0	0	0	1	0	0	0	11155	768	27	1	708	1	OR5D14	11	55563737	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	5560460	55563737	79442779	2033	61166											
OR5AS1	219447	broad.mit.edu	37	chr11	55798109	55798109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttatctttcttagacatcaGctgttctacagcaatcactc	4	12	5	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:55798109G>A	uc010riw.1	+	1	215	c.215G>A	c.(214-216)AGC>AAC	p.S72N		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)|skin(1)	5	Esophageal squamous(21;0.00693)					TTAGACATCAGCTGTTCTACA	0.353													A	55798109	G	A	55798109	3	1	94	1	0	0	0	0	1	0	0	0	11146	971	34	2	217	2	OR5AS1	11	55798109	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	234372	55798109	79208407	2034	61167											
OR8J3	81168	broad.mit.edu	37	chr11	55905191	55905191	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggtgaaattttcaggagCcatgtcagagtttggaaatt	11	6	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:55905191C>A	uc010riz.1	-	1	4	c.4G>T	c.(4-6)GCT>TCT	p.A2S		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	2	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					TTTTCAGGAGCCATGTCAGAG	0.428													A	55905191	C	A	55905191	3	1	94	1	0	0	0	0	1	0	0	0	11242	739	26	5	945	5	OR8J3	11	55905191	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	107082	55905191	79101325	2035	61168											
OR8H1	219469	broad.mit.edu	37	chr11	56057608	56057608	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgctattttaattaccTggagtcctgtcttctctgca	6	11	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:56057608T>G	uc010rje.1	-	1	931	c.931A>C	c.(931-933)AGG>CGG	p.R311R		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	311	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					TTTAATTACCTGGAGTCCTGT	0.338													G	56057608	T	G	56057608	2	3	94	1	0	0	0	0	0	0	0	1	11237	1579	55	5		5	OR8H1	11	56057608	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	152417	56057608	78948908	2036	61169											
OR8H1	219469	broad.mit.edu	37	chr11	56057978	56057978	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtcgtatgtgtccatgcaGgacagagctaaaattggaga	12	6	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:56057978G>T	uc010rje.1	-	1	561	c.561C>A	c.(559-561)TCC>TCA	p.S187S		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					TGTCCATGCAGGACAGAGCTA	0.433													T	56057978	G	T	56057978	2	4	94	1	0	0	0	0	0	0	0	1	11237	987	35	5		5	OR8H1	11	56057978	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	370	56057978	78948538	2037	61170											
OR8J1	219477	broad.mit.edu	37	chr11	56128498	56128498	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggacattgctattcatgtAtgtgcagccccgaagtaacc	10	10	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:56128498A>G	uc010rjh.1	+	1	776	c.776A>G	c.(775-777)TAT>TGT	p.Y259C		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	259	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					CTATTCATGTATGTGCAGCCC	0.388													G	56128498	A	G	56128498	3	3	94	1	0	0	0	0	1	0	0	0	11241	449	16	3	778	3	OR8J1	11	56128498	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	70520	56128498	78878018	2038	61171											
OR5M3	219482	broad.mit.edu	37	chr11	56237709	56237709	+	Frame_Shift_Del	DEL	T	T	-													acaaccagcataagtaattgTttttttatctgataacaggt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:56237709delT	uc010rjk.1	-	1	265	c.265delA	c.(265-267)ACAfs	p.T89fs		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	89	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TAAGTAATTGTTTTTTTATCT	0.363													-	56237709	T	-	56237709	7	5	94	1	0	1	0	1	0	0	0	0	11175	1725	60	0	660	0	OR5M3	11	56237709	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	109211	56237709	78768807	2039	61172											
OR5M8	219484	broad.mit.edu	37	chr11	56258665	56258665	+	Frame_Shift_Del	DEL	A	A	-													cgaaggataagtggctcaggAaaaagtacatgggcatgtgg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:56258665delA	uc001nix.1	-	1	182	c.182delT	c.(181-183)TTCfs	p.F61fs		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	61	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)					GTGGCTCAGGAAAAAGTACAT	0.488													-	56258665	A	-	56258665	7	5	94	1	0	1	0	1	0	0	0	0	11176	246	9	0	757	0	OR5M8	11	56258665	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	20956	56258665	78747851	2040	61173	286	2									
OR5M8	219484	broad.mit.edu	37	chr11	56258674	56258674	+	Missense_Mutation	SNP	A	A	G													agtggctcaggaaaaagtacAtgggcatgtggagccaggcg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:56258674A>G	uc001nix.1	-	1	173	c.173T>C	c.(172-174)ATG>ACG	p.M58T		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	58	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)					GAAAAAGTACATGGGCATGTG	0.493													G	56258674	A	G	56258674	3	3	94	1	0	0	0	0	1	0	0	0	11176	217	8	3	766	3	OR5M8	11	56258674	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	9	56258674	78747842	2041	61174	286	2									
LRRC55	219527	broad.mit.edu	37	chr11	56949609	56949610	+	Frame_Shift_Ins	INS	-	-	C													tcggatgccggcaccagctgINSccccgtcctttgcacatgcc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:56949609_56949610insC	uc001njl.1	+	1	389_390	c.242_243insC	c.(241-243)TGCfs	p.C81fs		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	51	LRRNT.					integral to membrane					0						GGCACCAGCTGCCCCGTCCTTT	0.649													C	56949610	-	C	56949609	7	5	94	1	0	1	1	0	0	0	0	0	9011	1319	46	0	244	0	LRRC55	11	56949609	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	690935	56949609	78056907	2042	61175	287	2									
LRRC55	219527	broad.mit.edu	37	chr11	56949610	56949611	+	Frame_Shift_Ins	INS	-	-	C													cggatgccggcaccagctgcINScccgtcctttgcacatgccg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:56949609_56949610G>GC	uc001njl.2	+	0	389_390	c.242_243G>GC	c.(241-243)tgcfs	p.C81fs		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	51						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GGCACCAGCTGCCCCGTCCTTT	0.649													C	56949611	-	C	56949610	7	5	94	1	0	1	1	0	0	0	0	0	9011	747	26	0	245	0	LRRC55	11	56949610	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	56949610	78056906	2043	61176	287	2									
P2RX3	5024	broad.mit.edu	37	chr11	57116158	57116158	+	Frame_Shift_Del	DEL	C	C	-													atcaagaacagcatccgtttCcccctcttcaactttgagaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:57116158delC	uc001nju.2	+	6	619	c.543delC	c.(541-543)TTCfs	p.F181fs		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	181	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						GCATCCGTTTCCCCCTCTTCA	0.527													-	57116158	C	-	57116158	7	5	94	1	0	1	0	1	0	0	0	0	11341	854	30	0	565	0	P2RX3	11	57116158	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	166548	57116158	77890358	2044	61177											
PRG3	10394	broad.mit.edu	37	chr11	57147109	57147109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgggtccgactccatgGcttcctcatcctcaaagttg	9	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:57147109G>A	uc001njv.1	-	3	343	c.233C>T	c.(232-234)GCC>GTC	p.A78V		NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3 precursor	78					basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding				0						CGACTCCATGGCTTCCTCATC	0.557													A	57147109	G	A	57147109	3	1	94	1	0	0	0	0	1	0	0	0	12480	1203	42	2	460	2	PRG3	11	57147109	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	30951	57147109	77859407	2045	61178											
RTN4RL2	349667	broad.mit.edu	37	chr11	57235267	57235267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcagaacaacctcatcCgcacgctgcggccaggcacc	9	18	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:57235267C>T	uc010rjt.1	+	2	217	c.217C>T	c.(217-219)CGC>TGC	p.R73C		NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2 precursor	73	LRR 1.				axon regeneration	anchored to plasma membrane	receptor activity				0						CAACCTCATCCGCACGCTGCG	0.622													T	57235267	C	T	57235267	3	4	94	1	0	0	0	0	1	0	0	0	13732	652	23	1	223	1	RTN4RL2	11	57235267	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	88158	57235267	77771249	2046	61179											
FAM111B	374393	broad.mit.edu	37	chr11	58892109	58892109	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgccaatgtgaaaatccaaAcatggaatgcattctttttc	6	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:58892109A>G	uc001nnl.2	+	4	782	c.539A>G	c.(538-540)AAC>AGC	p.N180S	FAM111B_uc001nnm.2_Missense_Mutation_p.N150S|FAM111B_uc010rko.1_Missense_Mutation_p.N150S	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	180							catalytic activity			ovary(2)	2						GAAAATCCAAACATGGAATGC	0.338													G	58892109	A	G	58892109	3	3	94	1	0	0	0	0	1	0	0	0	5400	43	2	3	545	3	FAM111B	11	58892109	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1656842	58892109	76114407	2047	61180											
FAM111A	63901	broad.mit.edu	37	chr11	58919526	58919526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggccaagaaatgcttgtgCgtggcacagaaggaatcaaa	12	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:58919526C>T	uc010rkp.1	+	5	612	c.385C>T	c.(385-387)CGT>TGT	p.R129C	FAM111A_uc010rkq.1_Missense_Mutation_p.R129C|FAM111A_uc010rkr.1_Missense_Mutation_p.R129C|FAM111A_uc001nno.2_Missense_Mutation_p.R129C|FAM111A_uc001nnp.2_Missense_Mutation_p.R129C|FAM111A_uc001nnq.2_Missense_Mutation_p.R129C	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN	hypothetical protein LOC63901	129					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_epithelial(135;0.139)				AATGCTTGTGCGTGGCACAGA	0.443													T	58919526	C	T	58919526	3	4	94	1	0	0	0	0	1	0	0	0	5399	768	27	1	391	1	FAM111A	11	58919526	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	27417	58919526	76086990	2048	61181											
OSBP	5007	broad.mit.edu	37	chr11	59361175	59361175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggactcagcatggtgcgcaGcagcagggggatgatgactc	16	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:59361175G>A	uc001noc.1	-	9	2060	c.1580C>T	c.(1579-1581)GCT>GTT	p.A527V	OSBP_uc009ymr.1_Intron	NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	527					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		ATGGTGCGCAGCAGCAGGGGG	0.458													A	59361175	G	A	59361175	3	1	94	1	0	0	0	0	1	0	0	0	11273	971	34	2	867	2	OSBP	11	59361175	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	441649	59361175	75645341	2049	61182											
MS4A14	84689	broad.mit.edu	37	chr11	60183217	60183217	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccacactagagaaaaagcCctcagaaaatatgtccattc	5	12	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:60183217C>A	uc001npj.2	+	5	1341	c.776C>A	c.(775-777)CCC>CAC	p.P259H	MS4A14_uc001npi.2_Missense_Mutation_p.P147H|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.P242H|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	259						integral to membrane	receptor activity			breast(1)	1						GAGAAAAAGCCCTCAGAAAAT	0.373													A	60183217	C	A	60183217	3	1	94	1	0	0	0	0	1	0	0	0	9858	623	22	5	794	5	MS4A14	11	60183217	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	822042	60183217	74823299	2050	61183											
PRPF19	27339	broad.mit.edu	37	chr11	60670961	60670961	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaaagctttcagaatggcCgggatgctggtggctgaggg	17	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:60670961C>T	uc001nqf.2	-	3	423	c.216G>A	c.(214-216)CCG>CCA	p.P72P		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	PRP19/PSO4 pre-mRNA processing factor 19	72					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			ovary(1)	1						TCAGAATGGCCGGGATGCTGG	0.562													T	60670961	C	T	60670961	2	4	94	1	0	0	0	0	0	0	0	1	12564	639	23	1		1	PRPF19	11	60670961	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	487744	60670961	74335555	2051	61184											
VWCE	220001	broad.mit.edu	37	chr11	61048617	61048617	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcctggggacagggcaggcCggccggcctcaggaagcaac	17	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:61048617C>A	uc001nra.2	-	8	1157	c.878G>T	c.(877-879)CGG>CTG	p.R293L	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	293						extracellular region	calcium ion binding			ovary(1)	1						CAGGGCAGGCCGGCCGGCCTC	0.662													A	61048617	C	A	61048617	3	1	94	1	0	0	0	0	1	0	0	0	17242	652	23	5	2041	5	VWCE	11	61048617	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	377656	61048617	73957899	2052	61185											
DDB1	1642	broad.mit.edu	37	chr11	61070548	61070548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacacaaacaagttaaagGcattttcagcccccagaaaa	6	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:61070548G>A	uc001nrc.3	-	23	3138	c.2912C>T	c.(2911-2913)GCC>GTC	p.A971V	DDB1_uc010rle.1_Missense_Mutation_p.A282V|DDB1_uc010rlf.1_Missense_Mutation_p.A971V	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	971	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						CAAGTTAAAGGCATTTTCAGC	0.473								NER					A	61070548	G	A	61070548	3	1	94	1	0	0	0	0	1	0	0	0	4323	1203	42	2	530	2	DDB1	11	61070548	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	21931	61070548	73935968	2053	61186											
TMEM138	51524	broad.mit.edu	37	chr11	61133581	61133581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgttcttcaacaccttcGtcttccaggctggcctggtc	8	14	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:61133581G>A	uc001nrl.1	+	3	369	c.193G>A	c.(193-195)GTC>ATC	p.V65I	TMEM138_uc010rli.1_Missense_Mutation_p.V65I|TMEM138_uc001nrm.2_Missense_Mutation_p.V65I	NM_016464	NP_057548	Q9NPI0	TM138_HUMAN	transmembrane protein 138	65						integral to membrane					0						CAACACCTTCGTCTTCCAGGC	0.453													A	61133581	G	A	61133581	3	1	94	1	0	0	0	0	1	0	0	0	16050	1145	40	1	199	1	TMEM138	11	61133581	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	63033	61133581	73872935	2054	61187											
INCENP	3619	broad.mit.edu	37	chr11	61908981	61908981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctccacagtgcagcttcGtcgtaagtaaagccttttcc	7	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:61908981G>A	uc001nsw.1	+	11	1805	c.1603G>A	c.(1603-1605)GTC>ATC	p.V535I	INCENP_uc009ynw.1_Missense_Mutation_p.V535I|INCENP_uc001nsx.1_Intron	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	535	Potential.				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1						GTGCAGCTTCGTCGTAAGTAA	0.592													A	61908981	G	A	61908981	3	1	94	1	0	0	0	0	1	0	0	0	7733	1145	40	1	1641	1	INCENP	11	61908981	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	775400	61908981	73097535	2055	61188											
AHNAK	79026	broad.mit.edu	37	chr11	62298496	62298496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcatgctgaacttgggCattttcatcttgggtatttt	11	7	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:62298496C>T	uc001ntl.2	-	5	3693	c.3393G>A	c.(3391-3393)ATG>ATA	p.M1131I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1131					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TGAACTTGGGCATTTTCATCT	0.522													T	62298496	C	T	62298496	3	4	94	1	0	0	0	0	1	0	0	0	414	710	25	2	14399	2	AHNAK	11	62298496	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	389515	62298496	72708020	2056	61189											
TUT1	64852	broad.mit.edu	37	chr11	62348927	62348927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgaagctgccgctcggcctCggacaactccctcagcccca	10	19	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:62348927C>T	uc001nto.2	-	3	672	c.634G>A	c.(634-636)GAG>AAG	p.E212K		NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	174					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2						CGCTCGGCCTCGGACAACTCC	0.607													T	62348927	C	T	62348927	3	4	94	1	0	0	0	0	1	0	0	0	16777	893	31	1	2132	1	TUT1	11	62348927	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	50431	62348927	72657589	2057	61190											
INTS5	80789	broad.mit.edu	37	chr11	62415761	62415761	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcagattccccaaagtgCgcccctagggctgcagggcc	14	14	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:62415761C>T	uc001nud.2	-	2	1844	c.1791G>A	c.(1789-1791)GCG>GCA	p.A597A	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	597					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						CCCCAAAGTGCGCCCCTAGGG	0.622													T	62415761	C	T	62415761	2	4	94	1	0	0	0	0	0	0	0	1	7781	755	27	1		1	INTS5	11	62415761	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	66834	62415761	72590755	2058	61191											
UBXN1	51035	broad.mit.edu	37	chr11	62445429	62445429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcctcggccttttccctcCgcctctcctcagcagcccgg	7	21	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:62445429C>T	uc001nul.1	-	5	584	c.452G>A	c.(451-453)CGG>CAG	p.R151Q	UBXN1_uc001nuj.2_Missense_Mutation_p.R151Q|UBXN1_uc001num.1_Missense_Mutation_p.R151Q|UBXN1_uc001nuk.2_Missense_Mutation_p.R116Q|UBXN1_uc010rme.1_Missense_Mutation_p.R151Q|UBXN1_uc010rmf.1_3'UTR	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	UBX domain protein 1	151	Potential.|Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding				0						CTTTTCCCTCCGCCTCTCCTC	0.552													T	62445429	C	T	62445429	3	4	94	1	0	0	0	0	1	0	0	0	16908	652	23	1	502	1	UBXN1	11	62445429	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	29668	62445429	72561087	2059	61192											
LRRN4CL	221091	broad.mit.edu	37	chr11	62455850	62455850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtagtcgcaggggacagccGgcaaaggcggccacgccgtc	16	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:62455850G>A	uc001nun.2	-	2	438	c.131C>T	c.(130-132)CCG>CTG	p.P44L		NM_203422	NP_981967	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like precursor	44	Extracellular (Potential).					integral to membrane					0						GGGGACAGCCGGCAAAGGCGG	0.652													A	62455850	G	A	62455850	3	1	94	1	0	0	0	0	1	0	0	0	9038	1116	39	1	589	1	LRRN4CL	11	62455850	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	10421	62455850	72550666	2060	61193											
TTC9C	283237	broad.mit.edu	37	chr11	62502877	62502877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctccttcagatggagcccGtgaactacgaacgagtgaga	12	10	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:62502877G>A	uc001nuy.2	+	2	631	c.262G>A	c.(262-264)GTG>ATG	p.V88M	TTC9C_uc001nux.2_Missense_Mutation_p.V221M	NM_173810	NP_776171	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	88	TPR 2.						binding			ovary(1)|pancreas(1)	2						GATGGAGCCCGTGAACTACGA	0.512													A	62502877	G	A	62502877	3	1	94	1	0	0	0	0	1	0	0	0	16714	1145	40	1	268	1	TTC9C	11	62502877	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	47027	62502877	72503639	2061	61194											
SLC3A2	6520	broad.mit.edu	37	chr11	62656124	62656124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaacgcctgaaactggagCctcacgaagggctgctgctc	13	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:62656124C>T	uc001nwd.2	+	12	2076	c.1852C>T	c.(1852-1854)CCT>TCT	p.P618S	SLC3A2_uc001nwb.2_Missense_Mutation_p.P649S|SLC3A2_uc001nwc.2_Missense_Mutation_p.P619S|SLC3A2_uc001nwe.2_Missense_Mutation_p.P587S|SLC3A2_uc001nwf.2_Missense_Mutation_p.P556S|SLC3A2_uc001nwg.2_Missense_Mutation_p.P517S	NM_002394	NP_002385	P08195	4F2_HUMAN	solute carrier family 3, member 2 isoform c	618	Extracellular (Potential).				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding				0						GAAACTGGAGCCTCACGAAGG	0.642													T	62656124	C	T	62656124	3	4	94	1	0	0	0	0	1	0	0	0	14627	739	26	2	1998	2	SLC3A2	11	62656124	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	153247	62656124	72350392	2062	61195											
LGALS12	85329	broad.mit.edu	37	chr11	63283775	63283775	+	Frame_Shift_Del	DEL	G	G	-													gcgctcaatgggcaggggctGggggccaccagcatgaacca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:63283775delG	uc001nxa.2	+	9	1262	c.921delG	c.(919-921)CTGfs	p.L307fs	LGALS12_uc001nxb.2_Frame_Shift_Del_p.L298fs|LGALS12_uc001nxc.2_Frame_Shift_Del_p.L308fs|LGALS12_uc001nxd.2_Frame_Shift_Del_p.L246fs|LGALS12_uc001nxe.2_Frame_Shift_Del_p.L237fs|LGALS12_uc009yot.2_Frame_Shift_Del_p.L267fs	NM_033101	NP_149092	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12 isoform	307	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			ovary(2)	2						GGCAGGGGCTGGGGGCCACCA	0.632													-	63283775	G	-	63283775	7	5	94	1	0	1	0	1	0	0	0	0	8739	1335	47	0	958	0	LGALS12	11	63283775	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	627651	63283775	71722741	2063	61196											
MARK2	2011	broad.mit.edu	37	chr11	63670157	63670157	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaataagcggcctgaggaggAccgggagtcagggcggaaag	18	7	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:63670157A>G	uc001nxw.2	+	13	1898	c.1319A>G	c.(1318-1320)GAC>GGC	p.D440G	MARK2_uc001nxx.2_Missense_Mutation_p.D440G|MARK2_uc001nxy.2_Missense_Mutation_p.D439G|MARK2_uc001nxv.3_Missense_Mutation_p.D439G|MARK2_uc001nxz.3_Missense_Mutation_p.D406G|MARK2_uc009yoy.2_Missense_Mutation_p.D406G	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	440					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						CCTGAGGAGGACCGGGAGTCA	0.607													G	63670157	A	G	63670157	3	3	94	1	0	0	0	0	1	0	0	0	9313	275	10	3	1369	3	MARK2	11	63670157	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	386382	63670157	71336359	2064	61197											
OTUB1	55611	broad.mit.edu	37	chr11	63764119	63764119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacagcaaggagttgcagCggtgagaagggtgggcactg	18	6	0	2	rs147019398		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:63764119C>T	uc001nyf.1	+	4	941	c.337C>T	c.(337-339)CGG>TGG	p.R113W	OTUB1_uc001nyg.1_Silent_p.S86S|OTUB1_uc010rmz.1_Missense_Mutation_p.R150W|OTUB1_uc010rna.1_Silent_p.S52S|OTUB1_uc009ypa.2_Intron|OTUB1_uc009ypb.1_Missense_Mutation_p.R83W	NM_017670	NP_060140	Q96FW1	OTUB1_HUMAN	otubain 1	113	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)	1						GGAGTTGCAGCGGTGAGAAGG	0.612													T	63764119	C	T	63764119	3	4	94	1	0	0	0	0	1	0	0	0	11311	782	27	1	351	1	OTUB1	11	63764119	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	93962	63764119	71242397	2065	61198											
PRDX5	25824	broad.mit.edu	37	chr11	64088505	64088505	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttattactagatgattcGctggtgtccatctttgggaa	10	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:64088505G>A	uc001nzu.2	+	5	623	c.504G>A	c.(502-504)TCG>TCA	p.S168S	PRDX5_uc001nzv.2_Silent_p.S124S|PRDX5_uc001nzw.2_Silent_p.S79S|PRDX5_uc001nzx.2_RNA	NM_012094	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5 isoform a precursor	168	Thioredoxin.				cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis	cytosolic part|mitochondrion|peroxisome	caspase inhibitor activity|peroxidase activity|peroxiredoxin activity			breast(1)	1					Auranofin(DB00995)	TAGATGATTCGCTGGTGTCCA	0.507													A	64088505	G	A	64088505	2	1	94	1	0	0	0	0	0	0	0	1	12468	1074	38	1		1	PRDX5	11	64088505	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	324386	64088505	70918011	2066	61199											
CCDC88B	283234	broad.mit.edu	37	chr11	64120317	64120317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgggcatcggcagcgggGcctggaggaggagctgcgga	21	8	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:64120317G>A	uc001nzy.2	+	20	3502	c.3458G>A	c.(3457-3459)GGC>GAC	p.G1153D	CCDC88B_uc009ypo.1_Missense_Mutation_p.G1150D|CCDC88B_uc001oaa.2_Missense_Mutation_p.G305D|CCDC88B_uc001oab.1_5'Flank|CCDC88B_uc001oac.2_5'Flank	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88	1153	Potential.				microtubule cytoskeleton organization	cytoplasm	microtubule binding			ovary(3)|skin(1)	4						CGGCAGCGGGGCCTGGAGGAG	0.677													A	64120317	G	A	64120317	3	1	94	1	0	0	0	0	1	0	0	0	2864	1203	42	2	3536	2	CCDC88B	11	64120317	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	31812	64120317	70886199	2067	61200											
CCDC88B	283234	broad.mit.edu	37	chr11	64121481	64121481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcttgcccccaggaaggGcagctggctggcagacaagg	14	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:64121481G>A	uc001nzy.2	+	24	3982	c.3938G>A	c.(3937-3939)GGC>GAC	p.G1313D	CCDC88B_uc009ypo.1_Missense_Mutation_p.G1310D|CCDC88B_uc001oaa.2_Missense_Mutation_p.G465D|CCDC88B_uc001oab.1_Missense_Mutation_p.G144D|CCDC88B_uc001oac.2_Intron	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88	1313					microtubule cytoskeleton organization	cytoplasm	microtubule binding			ovary(3)|skin(1)	4						CCCAGGAAGGGCAGCTGGCTG	0.468													A	64121481	G	A	64121481	3	1	94	1	0	0	0	0	1	0	0	0	2864	1203	42	2	4032	2	CCDC88B	11	64121481	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1164	64121481	70885035	2068	61201											
RPS6KA4	8986	broad.mit.edu	37	chr11	64135729	64135729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccaggagcgctatgatGcaggtgggctgggctgggct	20	8	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:64135729G>A	uc001oae.2	+	10	1280	c.1197G>A	c.(1195-1197)ATG>ATA	p.M399I	RPS6KA4_uc001oad.2_Missense_Mutation_p.M399I|RPS6KA4_uc010rnl.1_Missense_Mutation_p.M336I|RPS6KA4_uc001oaf.2_Missense_Mutation_p.M399I|RPS6KA4_uc009ypp.2_Intron|MIR1237_hsa-mir-1237|MI0006327_5'Flank	NM_003942	NP_003933	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	399					axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			lung(3)|ovary(1)|breast(1)	5						GCGCTATGATGCAGGtgggct	0.552													A	64135729	G	A	64135729	3	1	94	1	0	0	0	0	1	0	0	0	13653	1319	46	2	1235	2	RPS6KA4	11	64135729	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	14248	64135729	70870787	2069	61202											
NRXN2	9379	broad.mit.edu	37	chr11	64374787	64374787	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagttactgatgtagtttcGgctctggtccacctggtagg	13	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:64374787G>A	uc001oap.2	-	8	2393	c.1882C>T	c.(1882-1884)CGA>TGA	p.R628*	NRXN2_uc001oar.2_Nonsense_Mutation_p.R1674*|NRXN2_uc001oas.2_Nonsense_Mutation_p.R1604*|NRXN2_uc001oao.2_Nonsense_Mutation_p.R314*|NRXN2_uc001oaq.2_Nonsense_Mutation_p.R1341*	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	628	Cytoplasmic (Potential).				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						ATGTAGTTTCGGCTCTGGTCC	0.597													A	64374787	G	A	64374787	4	1	94	1	0	0	0	0	0	1	0	0	10666	1124	39	1	122	1	NRXN2	11	64374787	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	239058	64374787	70631729	2070	61203											
PYGM	5837	broad.mit.edu	37	chr11	64520597	64520597	+	Frame_Shift_Del	DEL	G	G	-													acagaaccagccagcgccgaGgggtgatgccgttggtctta							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:64520597delG	uc001oax.3	-	12	2283	c.1466delC	c.(1465-1467)CCTfs	p.P489fs	PYGM_uc001oay.3_Frame_Shift_Del_p.P401fs	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	489					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	CCAGCGCCGAGGGGTGATGCC	0.582													-	64520597	G	-	64520597	7	5	94	1	0	1	0	1	0	0	0	0	12862	1000	35	0	1098	0	PYGM	11	64520597	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	145810	64520597	70485919	2071	61204											
PYGM	5837	broad.mit.edu	37	chr11	64521114	64521114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccaccagcgacatgcgcCgcagccggtctacgtcccct	9	20	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:64521114C>T	uc001oax.3	-	11	2097	c.1280G>A	c.(1279-1281)CGG>CAG	p.R427Q	PYGM_uc001oay.3_Missense_Mutation_p.R339Q	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	427					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	CGACATGCGCCGCAGCCGGTC	0.687													T	64521114	C	T	64521114	3	4	94	1	0	0	0	0	1	0	0	0	12862	652	23	1	1288	1	PYGM	11	64521114	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	517	64521114	70485402	2072	61205											
CDC42BPG	55561	broad.mit.edu	37	chr11	64597244	64597244	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacagtggcaggtgcctgCagctcacggatgcggcgctg	16	12	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:64597244C>T	uc001obs.3	-	30	3666	c.3666G>A	c.(3664-3666)CTG>CTA	p.L1222L		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1222	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						CAGGTGCCTGCAGCTCACGGA	0.711													T	64597244	C	T	64597244	2	4	94	1	0	0	0	0	0	0	0	1	3074	697	25	2		2	CDC42BPG	11	64597244	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	76130	64597244	70409272	2073	61206											
C11orf2	738	broad.mit.edu	37	chr11	64878874	64878874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggctgcgcacctttgggCgcttcgggctgcagcaggtg	17	12	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:64878874C>T	uc001ocr.1	+	10	2204	c.2164C>T	c.(2164-2166)CGC>TGC	p.R722C	TM7SF2_uc001oct.2_5'Flank|TM7SF2_uc010rny.1_5'Flank|TM7SF2_uc001ocu.2_5'Flank|TM7SF2_uc001ocv.2_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.R598C	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	722					lipid transport|protein transport	Golgi apparatus|integral to membrane					0						CACCTTTGGGCGCTTCGGGCT	0.607													T	64878874	C	T	64878874	3	4	94	1	0	0	0	0	1	0	0	0	1633	768	27	1	2202	1	C11orf2	11	64878874	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	281630	64878874	70127642	2074	61207											
SYVN1	84447	broad.mit.edu	37	chr11	64900466	64900466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgaagagtgcaacaaagCgggggctgaagtcatcccga	15	8	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:64900466C>T	uc001odb.2	-	4	399	c.305G>A	c.(304-306)CGC>CAC	p.R102H	SYVN1_uc001odc.2_Missense_Mutation_p.R102H|SYVN1_uc009yqc.2_Missense_Mutation_p.R102H	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	synoviolin 1 isoform b	102	Helical; (Potential).				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(1)	1						TGCAACAAAGCGGGGGCTGAA	0.552													T	64900466	C	T	64900466	3	4	94	1	0	0	0	0	1	0	0	0	15484	768	27	1	1600	1	SYVN1	11	64900466	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	21592	64900466	70106050	2075	61208											
CAPN1	823	broad.mit.edu	37	chr11	64977871	64977871	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcggagcccgacctggcGgtcgactttgacaatttcgt	11	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:64977871G>A	uc009yqd.1	+	20	2118	c.2007G>A	c.(2005-2007)GCG>GCA	p.A669A	CAPN1_uc001odf.1_Silent_p.A669A|CAPN1_uc001odg.1_Silent_p.A669A|CAPN1_uc010roa.1_Silent_p.A410A	NM_005186	NP_005177	P07384	CAN1_HUMAN	calpain 1, large subunit	669	Domain IV.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CCGACCTGGCGGTCGACTTTG	0.592													A	64977871	G	A	64977871	2	1	94	1	0	0	0	0	0	0	0	1	2622	1103	39	1		1	CAPN1	11	64977871	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	77405	64977871	70028645	2076	61209											
SLC22A20	440044	broad.mit.edu	37	chr11	64981838	64981838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcactctccgagacctggcGcagtccgtctacatggccgg	12	16	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:64981838G>A	uc010roc.1	+	2	420	c.417G>A	c.(415-417)GCG>GCA	p.A139A	SLC22A20_uc010rob.1_Silent_p.A139A	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	solute carrier family 22, member 20	139	Helical; (Potential).				ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)	1						GAGACCTGGCGCAGTCCGTCT	0.682													A	64981838	G	A	64981838	2	1	94	1	0	0	0	0	0	0	0	1	14451	1074	38	1		1	SLC22A20	11	64981838	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3967	64981838	70024678	2077	61210											
SLC25A45	283130	broad.mit.edu	37	chr11	65144465	65144465	+	Frame_Shift_Del	DEL	G	G	-													cgggcccctggtaccggggtGgggggctccctggctgggcc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65144465delG	uc001odp.1	-	5	844	c.422delC	c.(421-423)CCAfs	p.P141fs	SLC25A45_uc009yqi.1_Frame_Shift_Del_p.P79fs|SLC25A45_uc001odq.1_Frame_Shift_Del_p.P117fs|SLC25A45_uc001odr.1_Frame_Shift_Del_p.P141fs|SLC25A45_uc001ods.1_Frame_Shift_Del_p.P99fs|SLC25A45_uc001odt.1_Frame_Shift_Del_p.P99fs	NM_001077241	NP_001070709	Q8N413	S2545_HUMAN	solute carrier family 25, member 45 isoform b	141	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						GTACCGGGGTGGGGGGCTCCC	0.647													-	65144465	G	-	65144465	7	5	94	1	0	1	0	1	0	0	0	0	14510	1348	47	0	452	0	SLC25A45	11	65144465	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	162627	65144465	69862051	2078	61211											
FRMD8	83786	broad.mit.edu	37	chr11	65178811	65178811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaccgtggtgcagcccggcGacagcctggagcagggctga	16	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65178811G>A	uc001odu.3	+	11	1567	c.1375G>A	c.(1375-1377)GAC>AAC	p.D459N	FRMD8_uc009yqj.2_Missense_Mutation_p.D403N|FRMD8_uc010rof.1_Missense_Mutation_p.D425N	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	459						cytoskeleton	binding			lung(1)|pancreas(1)	2						GCAGCCCGGCGACAGCCTGGA	0.706													A	65178811	G	A	65178811	3	1	94	1	0	0	0	0	1	0	0	0	6056	1058	37	1	1413	1	FRMD8	11	65178811	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	34346	65178811	69827705	2079	61212											
LTBP3	4054	broad.mit.edu	37	chr11	65315489	65315489	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actctccgtggccacagatgTtctggttcagtcggcactca	10	13	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65315489T>C	uc001oej.2	-	12	2017	c.1748A>G	c.(1747-1749)AAC>AGC	p.N583S	LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Missense_Mutation_p.N13S|LTBP3_uc010roi.1_Missense_Mutation_p.N466S|LTBP3_uc001oei.2_Missense_Mutation_p.N583S|LTBP3_uc010roj.1_Missense_Mutation_p.N284S|LTBP3_uc010rok.1_Missense_Mutation_p.N494S	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	583	Cys-rich.|EGF-like 3.					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						GCCACAGATGTTCTGGTTCAG	0.647													C	65315489	T	C	65315489	3	2	94	1	0	0	0	0	1	0	0	0	9075	1725	60	3	2231	3	LTBP3	11	65315489	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	136678	65315489	69691027	2080	61213											
PCNXL3	399909	broad.mit.edu	37	chr11	65387251	65387251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggaagctcagcggggccGggctgcctcccactcccggg	16	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65387251G>A	uc001oey.2	+	8	1856	c.1856G>A	c.(1855-1857)CGG>CAG	p.R619Q		NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	619						integral to membrane					0						CAGCGGGGCCGGGCTGCCTCC	0.716													A	65387251	G	A	65387251	3	1	94	1	0	0	0	0	1	0	0	0	11593	1116	39	1	1886	1	PCNXL3	11	65387251	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	71762	65387251	69619265	2081	61214											
PCNXL3	399909	broad.mit.edu	37	chr11	65403889	65403889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccaacccctcccaccagGccctggctgggggccgcggt	13	18	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65403889G>A	uc001oey.2	+	34	5621	c.5621G>A	c.(5620-5622)GGC>GAC	p.G1874D	PCNXL3_uc001oez.2_Missense_Mutation_p.G761D	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1874	Gly-rich.					integral to membrane					0						CTCCCACCAGGCCCTGGCTGG	0.687													A	65403889	G	A	65403889	3	1	94	1	0	0	0	0	1	0	0	0	11593	1203	42	2	5755	2	PCNXL3	11	65403889	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	16638	65403889	69602627	2082	61215											
SIPA1	6494	broad.mit.edu	37	chr11	65414977	65414977	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagcgcttcacattcgccgaGacggcggggctgcggcccgg	17	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65414977G>C	uc001ofb.2	+	9	2321	c.2154G>C	c.(2152-2154)GAG>GAC	p.E718D	SIPA1_uc010rom.1_Missense_Mutation_p.E616D|SIPA1_uc001ofd.2_Missense_Mutation_p.E718D	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	718	PDZ.				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity				0						CATTCGCCGAGACGGCGGGGC	0.766													C	65414977	G	C	65414977	3	2	94	1	0	0	0	0	1	0	0	0	14328	933	33	5	2184	5	SIPA1	11	65414977	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	11088	65414977	69591539	2083	61216											
RELA	5970	broad.mit.edu	37	chr11	65429435	65429435	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggggtgggtcttggtggtAtctgtgctcctctcgcctgg	17	9	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65429435A>G	uc001ofg.2	-	3	299	c.159T>C	c.(157-159)GAT>GAC	p.D53D	RELA_uc001ofh.2_Silent_p.D53D|RELA_uc010ron.1_Silent_p.D53D|RELA_uc009yqr.2_5'UTR|RELA_uc001ofe.2_Silent_p.D53D|RELA_uc001off.2_Silent_p.D53D|RELA_uc009yqs.1_5'Flank	NM_021975	NP_068810	Q04206	TF65_HUMAN	v-rel reticuloendotheliosis viral oncogene	53	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			lung(3)|ovary(1)	4						TCTTGGTGGTATCTGTGCTCC	0.632													G	65429435	A	G	65429435	2	3	94	1	0	0	0	0	0	0	0	1	13216	446	16	3		3	RELA	11	65429435	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	14458	65429435	69577081	2084	61217											
MUS81	80198	broad.mit.edu	37	chr11	65631120	65631120	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctacagcggctgcacgtgAcccacacggtgcgcaagctg	13	14	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65631120A>G	uc001ofv.3	+	9	1242	c.889A>G	c.(889-891)ACC>GCC	p.T297A	MUS81_uc001ofw.3_RNA|MUS81_uc001ofx.3_5'UTR	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	MUS81 endonuclease homolog	297	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding				0				READ - Rectum adenocarcinoma(159;0.166)		GCTGCACGTGACCCACACGGT	0.647								Homologous_recombination					G	65631120	A	G	65631120	3	3	94	1	0	0	0	0	1	0	0	0	9988	275	10	3	923	3	MUS81	11	65631120	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	201685	65631120	69375396	2085	61218											
CTSW	1521	broad.mit.edu	37	chr11	65650873	65650873	+	Frame_Shift_Del	DEL	G	G	-													ctggatcctgaagaactcctGgggggcccaatggggagaga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65650873delG	uc001ogc.1	+	9	1040	c.998delG	c.(997-999)TGGfs	p.W333fs	CTSW_uc001ogb.1_Frame_Shift_Del_p.W333fs	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	333					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)		AAGAACTCCTGGGGGGCCCAA	0.597													-	65650873	G	-	65650873	7	5	94	1	0	1	0	1	0	0	0	0	4042	1357	47	0	1032	0	CTSW	11	65650873	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	19753	65650873	69355643	2086	61219											
FIBP	9158	broad.mit.edu	37	chr11	65651477	65651477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcgcaggaggcagccgcGgagggtgcccatgtagcggt	19	11	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65651477G>A	uc001ogd.2	-	10	1184	c.1063C>T	c.(1063-1065)CGC>TGC	p.R355C	FIBP_uc009yqu.2_Missense_Mutation_p.P340L|FIBP_uc001oge.2_Missense_Mutation_p.R348C	NM_198897	NP_942600	O43427	FIBP_HUMAN	FGF intracellular binding protein isoform a	355					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.166)		AGGCAGCCGCGGAGGGTGCCC	0.502											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	65651477	G	A	65651477	3	1	94	1	0	0	0	0	1	0	0	0	5886	1116	39	1	35	1	FIBP	11	65651477	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	604	65651477	69355039	2087	61220											
TSGA10IP	254187	broad.mit.edu	37	chr11	65714876	65714876	+	Frame_Shift_Del	DEL	C	C	-													aaggggagctaggatcagagCcccccagtggtctccagctg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65714875_65714875GC>G	uc001ogk.1	+	3	608	c.576_576GC>G	c.(574-576)gagfs	p.E192fs	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA.	193								p.A192V(1)		endometrium(2)|kidney(3)|lung(9)	14						TAGGATCAGAGCCCCCCAGTG	0.642													-	65714876	C	-	65714876	7	5	94	1	0	1	0	1	0	0	0	0	16615	739	26	0	590	0	TSGA10IP	11	65714876	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	63399	65714876	69291640	2088	61221											
GAL3ST3	89792	broad.mit.edu	37	chr11	65810429	65810429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgccgcccgcgccagcGccgcggggatggcggccagg	19	17	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65810429G>A	uc001ogv.2	-	2	1005	c.845C>T	c.(844-846)GCG>GTG	p.A282V	GAL3ST3_uc001ogw.2_Missense_Mutation_p.A282V	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	282	Lumenal (Potential).				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(1)	1						ccgcgccagcgccgcggggAT	0.632													A	65810429	G	A	65810429	3	1	94	1	0	0	0	0	1	0	0	0	6199	1087	38	1	454	1	GAL3ST3	11	65810429	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	95553	65810429	69196087	2089	61222											
SF3B2	10992	broad.mit.edu	37	chr11	65836146	65836146	+	Splice_Site	DEL	A	A	-													tctctttctccctatacagcAaaaaaaacggaaagctcagc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65836145_65836145CA>C	uc001ogy.1	+	22	2657	c.2617_splice	c.e22-1	p.Q873_splice	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.2_5'Flank	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	873					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCTATACAGCAAAAAAAACG	0.512											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	65836146	A	-	65836146	8	5	94	1	0	1	0	1	0	0	1	0	14151	144	5	0	2704	0	SF3B2	11	65836146	Splice_Site	DEL	A	TCGA-BR-8487-01A-11D-2394-08	25717	65836146	69170370	2090	61223											
KLC2	64837	broad.mit.edu	37	chr11	66033664	66033664	+	Frame_Shift_Del	DEL	C	C	-													aaagaagctgcaggggggcaCcccccaggagccccctaacc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:66033663_66033663AC>A	uc010rov.1	+	13	1945	c.1702_1702AC>A	c.(1702-1704)accfs	p.T568fs	KLC2_uc010row.1_Frame_Shift_Del_p.T568fs|KLC2_uc001ohb.2_Frame_Shift_Del_p.T568fs|KLC2_uc010rox.1_Frame_Shift_Del_p.T491fs|KLC2_uc001ohc.2_Frame_Shift_Del_p.T568fs|KLC2_uc001ohd.2_Frame_Shift_Del_p.T491fs|KLC2_uc001ohe.1_Frame_Shift_Del_p.T429fs|RAB1B_uc001ohf.3_5'Flank	NM_001134775	NP_073733	Q9H0B6	KLC2_HUMAN	Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.	568					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GCAGGGGGGCACCCCCCAGGA	0.652													-	66033664	C	-	66033664	7	5	94	1	0	1	0	1	0	0	0	0	8334	507	18	0	1753	0	KLC2	11	66033664	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	197518	66033664	68972852	2091	61224											
RIN1	9610	broad.mit.edu	37	chr11	66102301	66102301	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccctggcaccccctcctcCtcggagctgctgggggagcc	13	18	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:66102301C>T	uc001ohn.1	-	6	1096	c.969G>A	c.(967-969)GAG>GAA	p.E323E	RIN1_uc010roy.1_Silent_p.E16E|RIN1_uc009yrd.1_Silent_p.E16E|RIN1_uc010roz.1_Silent_p.E218E|RIN1_uc010rpa.1_Silent_p.E218E	NM_004292	NP_004283	Q13671	RIN1_HUMAN	ras inhibitor RIN1	323	Ras and 14-3-3 protein binding region.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			lung(2)|breast(1)	3						CCCCCTCCTCCTCGGAGCTGC	0.711													T	66102301	C	T	66102301	2	4	94	1	0	0	0	0	0	0	0	1	13371	680	24	4		4	RIN1	11	66102301	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	68637	66102301	68904215	2092	61225											
DPP3	10072	broad.mit.edu	37	chr11	66260252	66260252	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggtggcgagcgcagagCagctgctgaaggagctgccc	18	11	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:66260252C>T	uc001oig.1	+	10	1116	c.1054C>T	c.(1054-1056)CAG>TAG	p.Q352*	DPP3_uc001oif.1_Nonsense_Mutation_p.Q352*|DPP3_uc010rpe.1_Nonsense_Mutation_p.Q341*	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	352					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2						GAGCGCAGAGCAGCTGCTGAA	0.612													T	66260252	C	T	66260252	4	4	94	1	0	0	0	0	0	1	0	0	4728	711	25	2	1088	2	DPP3	11	66260252	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	157951	66260252	68746264	2093	61226											
SPTBN2	6712	broad.mit.edu	37	chr11	66460053	66460053	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtgggaggccgccaccAcctcgcgctcctggatccac	12	18	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:66460053A>G	uc001ojd.2	-	25	5216	c.5144T>C	c.(5143-5145)GTG>GCG	p.V1715A		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1715	Spectrin 14.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GGCCGCCACCACCTCGCGCTC	0.672													G	66460053	A	G	66460053	3	3	94	1	0	0	0	0	1	0	0	0	15119	159	6	3	2080	3	SPTBN2	11	66460053	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	199801	66460053	68546463	2094	61227											
PC	5091	broad.mit.edu	37	chr11	66617168	66617168	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtggcagtgaagtcctTgaagtgggcaaacacatcgg	14	7	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:66617168T>C	uc001ojn.1	-	19	3110	c.3061A>G	c.(3061-3063)AAG>GAG	p.K1021E	PC_uc001ojo.1_Missense_Mutation_p.K1021E|PC_uc001ojp.1_Missense_Mutation_p.K1021E|PC_uc001ojm.1_Missense_Mutation_p.K10E	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	1021					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTGAAGTCCTTGAAGTGGGCA	0.587													C	66617168	T	C	66617168	3	2	94	1	0	0	0	0	1	0	0	0	11497	1821	63	3	487	3	PC	11	66617168	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	157115	66617168	68389348	2095	61228											
PC	5091	broad.mit.edu	37	chr11	66617432	66617432	+	Frame_Shift_Del	DEL	C	C	-													gagcgaaagggttcggggaaCcccccatgggggacaccgat					rs1131855		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:66617432delC	uc001ojn.1	-	18	2923	c.2874delG	c.(2872-2874)GGGfs	p.G958fs	PC_uc001ojo.1_Frame_Shift_Del_p.G958fs|PC_uc001ojp.1_Frame_Shift_Del_p.G958fs|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	958					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTTCGGGGAACCCCCCATGGG	0.632													-	66617432	C	-	66617432	7	5	94	1	0	1	0	1	0	0	0	0	11497	494	18	0	678	0	PC	11	66617432	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	264	66617432	68389084	2096	61229											
LRFN4	78999	broad.mit.edu	37	chr11	66627324	66627324	+	Frame_Shift_Del	DEL	G	G	-													gggaccctgaccgtggccgtGgggggtgtgctggtggctgc					rs142190580		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:66627324delG	uc001ojr.2	+	2	1906	c.1566delG	c.(1564-1566)GTGfs	p.V522fs	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	522	Helical; (Potential).					integral to membrane					0						CCGTGGCCGTGGGGGGTGTGC	0.716													-	66627324	G	-	66627324	7	5	94	1	0	1	0	1	0	0	0	0	8940	1335	47	0	1572	0	LRFN4	11	66627324	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	9892	66627324	68379192	2097	61230											
KDM2A	22992	broad.mit.edu	37	chr11	67018208	67018208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtctggatgtctgtcttcCgctacctcagccgcagagaa	11	12	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:67018208C>T	uc001ojw.2	+	17	3571	c.2707C>T	c.(2707-2709)CGC>TGC	p.R903C	KDM2A_uc001ojx.2_Intron|KDM2A_uc001ojy.2_Missense_Mutation_p.R597C|KDM2A_uc010rpn.1_Missense_Mutation_p.R464C|KDM2A_uc001ojz.1_Missense_Mutation_p.R361C|KDM2A_uc001oka.2_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	903	F-box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						GTCTGTCTTCCGCTACCTCAG	0.572													T	67018208	C	T	67018208	3	4	94	1	0	0	0	0	1	0	0	0	8124	652	23	1	2769	1	KDM2A	11	67018208	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	390884	67018208	67988308	2098	61231											
KDM2A	22992	broad.mit.edu	37	chr11	67022389	67022389	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgatctacctacggcgcAttgccaacgtcaccttgatc	7	16	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:67022389A>G	uc001ojw.2	+	21	4216	c.3352A>G	c.(3352-3354)ATT>GTT	p.I1118V	KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.I812V|KDM2A_uc001ojz.1_3'UTR|KDM2A_uc001oka.2_Missense_Mutation_p.I242V	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	1118	LRR 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						CCTACGGCGCATTGCCAACGT	0.502													G	67022389	A	G	67022389	3	3	94	1	0	0	0	0	1	0	0	0	8124	217	8	3	3430	3	KDM2A	11	67022389	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	4181	67022389	67984127	2099	61232											
SSH3	54961	broad.mit.edu	37	chr11	67077245	67077245	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcttccacagagcacaGggcacccacgtgctggtcca	11	16	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:67077245G>T	uc001okj.2	+	12	1393	c.1215G>T	c.(1213-1215)CAG>CAT	p.Q405H	SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Missense_Mutation_p.Q259H	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3	405	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			ACAGAGCACAGGGCACCCACG	0.632													T	67077245	G	T	67077245	3	4	94	1	0	0	0	0	1	0	0	0	15185	991	35	5	1261	5	SSH3	11	67077245	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	54856	67077245	67929271	2100	61233											
TBC1D10C	374403	broad.mit.edu	37	chr11	67172910	67172910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcatcccgtctgccctgcGcgcccgatgctggcccctgt	12	18	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:67172910G>A	uc001ola.2	+	4	322	c.293G>A	c.(292-294)CGC>CAC	p.R98H	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_Missense_Mutation_p.R98H|TBC1D10C_uc001olb.2_RNA	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	98	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TCTGCCCTGCGCGCCCGATGC	0.647													A	67172910	G	A	67172910	3	1	94	1	0	0	0	0	1	0	0	0	15597	1087	38	1	303	1	TBC1D10C	11	67172910	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	95665	67172910	67833606	2101	61234											
TMEM134	80194	broad.mit.edu	37	chr11	67232302	67232302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaacaacaggaagcccggCacgaagaagatggcgctgga	13	11	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:67232302C>T	uc001olq.1	-	6	545	c.477G>A	c.(475-477)GTG>GTA	p.V159V	TMEM134_uc001olp.1_Silent_p.V150V|TMEM134_uc001olr.1_Silent_p.V144V|TMEM134_uc001ols.1_RNA|TMEM134_uc001olt.1_RNA	NM_025124	NP_079400	Q9H6X4	TM134_HUMAN	transmembrane protein 134 isoform a	159	Helical; (Potential).					integral to membrane					0						GGAAGCCCGGCACGAAGAAGA	0.433													T	67232302	C	T	67232302	2	4	94	1	0	0	0	0	0	0	0	1	16047	697	25	2		2	TMEM134	11	67232302	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	59392	67232302	67774214	2102	61235											
NDUFV1	4723	broad.mit.edu	37	chr11	67376963	67376963	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgcagacgagggggagccgGgcacctgcaaggaccgggag	19	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:67376963G>T	uc001omj.2	+	4	520	c.367G>T	c.(367-369)GGC>TGC	p.G123C	NDUFV1_uc010rpv.1_Missense_Mutation_p.G22C|NDUFV1_uc001oml.2_Missense_Mutation_p.G116C|NDUFV1_uc001omk.3_Missense_Mutation_p.G114C|NDUFV1_uc009yrz.1_Missense_Mutation_p.G22C|NDUFV1_uc010rpw.1_5'Flank	NM_007103	NP_009034	P49821	NDUV1_HUMAN	NADH dehydrogenase ubiquinone flavoprotein 1	123					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			skin(1)	1					NADH(DB00157)	GGGGGAGCCGGGCACCTGCAA	0.647													T	67376963	G	T	67376963	3	4	94	1	0	0	0	0	1	0	0	0	10299	1232	43	5	381	5	NDUFV1	11	67376963	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	144661	67376963	67629553	2103	61236											
LRP5	4041	broad.mit.edu	37	chr11	68115579	68115579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgcctgcgactgggtggGcaagaagctgtactggacgg	16	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:68115579G>A	uc001ont.2	+	2	431	c.356G>A	c.(355-357)GGC>GAC	p.G119D	LRP5_uc009ysg.2_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	119	Beta-propeller 1.|LDL-receptor class B 1.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						GACTGGGTGGGCAAGAAGCTG	0.632													A	68115579	G	A	68115579	3	1	94	1	0	0	0	0	1	0	0	0	8960	1203	42	2	362	2	LRP5	11	68115579	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	738616	68115579	66890937	2104	61237											
LRP5	4041	broad.mit.edu	37	chr11	68177424	68177424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggagctcggtggagcacGtggtggagtttggccttgac	18	8	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:68177424G>A	uc001ont.2	+	10	2209	c.2134G>A	c.(2134-2136)GTG>ATG	p.V712M	LRP5_uc009ysg.2_Missense_Mutation_p.V122M	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	712	LDL-receptor class B 11.|Beta-propeller 3.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						GGTGGAGCACGTGGTGGAGTT	0.557													A	68177424	G	A	68177424	3	1	94	1	0	0	0	0	1	0	0	0	8960	1145	40	1	2172	1	LRP5	11	68177424	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	61845	68177424	66829092	2105	61238											
LRP5	4041	broad.mit.edu	37	chr11	68192762	68192762	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagctgtgacctgtcaggTacgcgccccggggcctgccc	15	15	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:68192762T>C	uc001ont.2	+	15	3502	c.3427_splice	c.e15+2	p.G1143_splice	LRP5_uc009ysg.2_Splice_Site_p.G553_splice	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein						adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						ACCTGTCAGGTACGCGCCCCG	0.488													C	68192762	T	C	68192762	5	2	94	1	0	0	0	0	0	0	1	0	8960	1652	57	3	3487	3	LRP5	11	68192762	Splice_Site	SNP	T	TCGA-BR-8487-01A-11D-2394-08	15338	68192762	66813754	2106	61239											
KRTAP5-9	3846	broad.mit.edu	37	chr11	71260197	71260197	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgctgtgtccctgtgtgctAccagtgcaagatctgaggct	12	10	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:71260197A>G	uc001oqs.1	+	1	732	c.494A>G	c.(493-495)TAC>TGC	p.Y165C		NM_005553	NP_005544	P26371	KRA59_HUMAN	keratin associated protein 5-9	165					epidermis development	keratin filament					0						CCTGTGTGCTACCAGTGCAAG	0.562													G	71260197	A	G	71260197	3	3	94	1	0	0	0	0	1	0	0	0	8568	391	14	3	496	3	KRTAP5-9	11	71260197	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	3067435	71260197	63746319	2107	61240											
RNF121	55298	broad.mit.edu	37	chr11	71705779	71705779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagttctacagcgagtcGggcatgcctaccaaacatct	8	13	3	0	rs142590831		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:71705779G>A	uc001ora.2	+	7	982	c.642G>A	c.(640-642)TCG>TCA	p.S214S	RNF121_uc001ord.2_Silent_p.S133S|RNF121_uc001orb.2_Silent_p.S182S|RNF121_uc009yst.2_Intron	NM_018320	NP_060790	Q9H920	RN121_HUMAN	ring finger protein 121	214						integral to membrane	zinc ion binding				0						ACAGCGAGTCGGGCATGCCTA	0.488													A	71705779	G	A	71705779	2	1	94	1	0	0	0	0	0	0	0	1	13431	1103	39	1		1	RNF121	11	71705779	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	445582	71705779	63300737	2108	61241											
NUMA1	4926	broad.mit.edu	37	chr11	71720111	71720111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagctcatggcccagccGttcagcttcagctcgcagct	10	15	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:71720111G>A	uc001orl.1	-	19	5132	c.4960C>T	c.(4960-4962)CGG>TGG	p.R1654W	NUMA1_uc001orj.2_5'Flank|NUMA1_uc009ysw.1_Missense_Mutation_p.R1203W|NUMA1_uc001ork.1_Missense_Mutation_p.R518W|NUMA1_uc001orm.1_Missense_Mutation_p.R1640W|NUMA1_uc001orn.2_Missense_Mutation_p.R1217W	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1654	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						TGGCCCAGCCGTTCAGCTTCA	0.597			T	RARA	APL								A	71720111	G	A	71720111	3	1	94	1	0	0	0	0	1	0	0	0	10750	1144	40	1	1423	1	NUMA1	11	71720111	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	14332	71720111	63286405	2109	61242											
CLPB	81570	broad.mit.edu	37	chr11	72145511	72145511	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctcctcaacaccagggacCccagcatcttgacagctgct	7	16	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:72145511C>A	uc001osj.2	-	1	58	c.8G>T	c.(7-9)GGG>GTG	p.G3V	CLPB_uc010rqx.1_5'UTR|CLPB_uc010rqy.1_Missense_Mutation_p.G3V|CLPB_uc001osk.2_Missense_Mutation_p.G3V|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_5'UTR	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B	3					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1						CACCAGGGACCCCAGCATCTT	0.657											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	72145511	C	A	72145511	3	1	94	1	0	0	0	0	1	0	0	0	3551	623	22	5	2183	5	CLPB	11	72145511	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	425400	72145511	62861005	2110	61243											
ARAP1	116985	broad.mit.edu	37	chr11	72404824	72404824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtgcaggatgggcagcaCcttctccgcaaagtgcaggg	14	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:72404824C>T	uc001osu.2	-	28	3910	c.3721G>A	c.(3721-3723)GTG>ATG	p.V1241M	ARAP1_uc001osv.2_Missense_Mutation_p.V1241M|ARAP1_uc001osr.2_Missense_Mutation_p.V1001M|ARAP1_uc001oss.2_Missense_Mutation_p.V996M|ARAP1_uc009yth.2_Missense_Mutation_p.V935M|ARAP1_uc010rre.1_Missense_Mutation_p.V996M	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1241	Ras-associating.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						ATGGGCAGCACCTTCTCCGCA	0.637													T	72404824	C	T	72404824	3	4	94	1	0	0	0	0	1	0	0	0	838	507	18	4	663	4	ARAP1	11	72404824	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	259313	72404824	62601692	2111	61244											
ARAP1	116985	broad.mit.edu	37	chr11	72422546	72422546	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgatagatgtaagatcTggagagggagagggacaaca	14	4	2	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:72422546T>C	uc001osu.2	-	8	1212	c.1023_splice	c.e8-1	p.G341_splice	ARAP1_uc001osv.2_Splice_Site_p.G341_splice|ARAP1_uc001osr.2_Splice_Site_p.G101_splice|ARAP1_uc001oss.2_Splice_Site_p.G96_splice|ARAP1_uc009yth.2_Splice_Site_p.G96_splice|ARAP1_uc010rre.1_Splice_Site_p.G96_splice	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH						actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						ATGTAAGATCTGGAGAGGGAG	0.542													C	72422546	T	C	72422546	5	2	94	1	0	0	0	0	0	0	1	0	838	1594	55	3	3443	3	ARAP1	11	72422546	Splice_Site	SNP	T	TCGA-BR-8487-01A-11D-2394-08	17722	72422546	62583970	2112	61245											
FCHSD2	9873	broad.mit.edu	37	chr11	72598525	72598525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccttacctctgctttaCgaatattttctctagcttca	4	13	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:72598525C>T	uc009ytl.2	-	12	1357	c.1136G>A	c.(1135-1137)CGT>CAT	p.R379H	FCHSD2_uc010rrg.1_Missense_Mutation_p.R243H|FCHSD2_uc001oth.3_Missense_Mutation_p.R323H|FCHSD2_uc001oti.2_Missense_Mutation_p.R338H	NM_014824	NP_055639	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	379	Potential.						protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CTCTGCTTTACGAATATTTTC	0.403													T	72598525	C	T	72598525	3	4	94	1	0	0	0	0	1	0	0	0	5790	536	19	1	1122	1	FCHSD2	11	72598525	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	175979	72598525	62407991	2113	61246											
ARHGEF17	9828	broad.mit.edu	37	chr11	73021469	73021469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaatatgtgcaggaggccCgccaggtttttgagaagatc	12	9	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:73021469C>T	uc001otu.2	+	1	1807	c.1786C>T	c.(1786-1788)CGC>TGC	p.R596C		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	596					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						GCAGGAGGCCCGCCAGGTTTT	0.627													T	73021469	C	T	73021469	3	4	94	1	0	0	0	0	1	0	0	0	900	652	23	1	1788	1	ARHGEF17	11	73021469	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	422944	73021469	61985047	2114	61247											
RELT	84957	broad.mit.edu	37	chr11	73103367	73103367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggcccagaggagacagCcgcccagtacgcggtcatcg	15	13	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:73103367C>T	uc001otv.2	+	6	644	c.479C>T	c.(478-480)GCC>GTC	p.A160V	RELT_uc001otw.2_Missense_Mutation_p.A160V|RELT_uc009yto.1_Missense_Mutation_p.A78V|RELT_uc001otx.2_5'Flank	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor precursor	160	Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			upper_aerodigestive_tract(1)	1						GAGGAGACAGCCGCCCAGTAC	0.687													T	73103367	C	T	73103367	3	4	94	1	0	0	0	0	1	0	0	0	13221	739	26	2	497	2	RELT	11	73103367	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	81898	73103367	61903149	2115	61248											
PAAF1	80227	broad.mit.edu	37	chr11	73625524	73625524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagataagaaacttcagtGcttgggactacagagcaggc	13	7	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:73625524G>A	uc001ouk.1	+	8	828	c.794G>A	c.(793-795)TGC>TAC	p.C265Y	PAAF1_uc001oul.1_Missense_Mutation_p.C248Y|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Missense_Mutation_p.C248Y	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	265					interspecies interaction between organisms	proteasome complex	protein binding			ovary(1)|skin(1)	2	Breast(11;7.42e-05)					AAACTTCAGTGCTTGGGACTA	0.463													A	73625524	G	A	73625524	3	1	94	1	0	0	0	0	1	0	0	0	11362	1319	46	2	824	2	PAAF1	11	73625524	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	522157	73625524	61380992	2116	61249											
C2CD3	26005	broad.mit.edu	37	chr11	73829364	73829364	+	Frame_Shift_Del	DEL	T	T	-													aagagctgttgactggcttaTttttttagaagggacgatat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:73829364delT	uc001ouu.2	-	9	1656	c.1429delA	c.(1429-1431)ATAfs	p.I477fs	C2CD3_uc001ouv.2_Frame_Shift_Del_p.I477fs	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	477						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					GACTGGCTTATTTTTTTAGAA	0.433													-	73829364	T	-	73829364	7	5	94	1	0	1	0	1	0	0	0	0	2154	1493	52	0	4554	0	C2CD3	11	73829364	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	203840	73829364	61177152	2117	61250											
POLD3	10714	broad.mit.edu	37	chr11	74336575	74336575	+	Frame_Shift_Del	DEL	A	A	-													caggcctgaaaaaatccagcAaaaaagcagagcctgttaag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:74336575delA	uc001ovf.1	+	8	931	c.856delA	c.(856-858)AAAfs	p.K286fs	POLD3_uc009yua.1_Frame_Shift_Del_p.K180fs	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	DNA-directed DNA polymerase delta 3	286					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			kidney(2)|ovary(1)	3	Breast(11;3.21e-06)					AAAATCCAGCAAAAAAGCAGA	0.448													-	74336575	A	-	74336575	7	5	94	1	0	1	0	1	0	0	0	0	12192	131	5	0	886	0	POLD3	11	74336575	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	507211	74336575	60669941	2118	61251											
CHRDL2	25884	broad.mit.edu	37	chr11	74413990	74413990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtagaactgatctcactGtggccagggtctgctttgtc	12	10	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:74413990G>A	uc001ovi.2	-	9	1222	c.969C>T	c.(967-969)CAC>CAT	p.H323H	CHRDL2_uc001ovg.2_Silent_p.H207H|CHRDL2_uc001ovh.2_Silent_p.H323H|CHRDL2_uc001ovj.1_RNA|CHRDL2_uc001ovk.1_Silent_p.H258H			Q6WN34	CRDL2_HUMAN	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;	323					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion					0	Hepatocellular(1;0.098)					TGATCTCACTGTGGCCAGGGT	0.522											OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	74413990	G	A	74413990	2	1	94	1	0	0	0	0	0	0	0	1	3374	1368	48	4		4	CHRDL2	11	74413990	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	77415	74413990	60592526	2119	61252											
XRRA1	143570	broad.mit.edu	37	chr11	74554379	74554379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagtcccgaacactgtgcGcagagagccactcaccagct	11	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:74554379G>A	uc009yub.2	-	19	2577	c.2245C>T	c.(2245-2247)CGC>TGC	p.R749C	XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovn.2_Missense_Mutation_p.R372C|XRRA1_uc001ovo.2_Missense_Mutation_p.R357C|XRRA1_uc001ovq.3_3'UTR|XRRA1_uc001ovp.3_Missense_Mutation_p.R474C|XRRA1_uc001ovr.2_3'UTR|XRRA1_uc001ovs.1_3'UTR	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	749					response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1						AACACTGTGCGCAGAGAGCCA	0.612													A	74554379	G	A	74554379	3	1	94	1	0	0	0	0	1	0	0	0	17458	1087	38	1	137	1	XRRA1	11	74554379	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	140389	74554379	60452137	2120	61253											
B3GNT6	192134	broad.mit.edu	37	chr11	76751188	76751188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacaccttcctcaacctcaCgctcaagcacctgcacttgc	6	18	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:76751188C>T	uc001oxw.2	+	2	681	c.593C>T	c.(592-594)ACG>ATG	p.T198M		NM_138706	NP_619651	Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal	198	Lumenal (Potential).				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity				0						CTCAACCTCACGCTCAAGCAC	0.706													T	76751188	C	T	76751188	3	4	94	1	0	0	0	0	1	0	0	0	1261	536	19	1	595	1	B3GNT6	11	76751188	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2196809	76751188	58255328	2121	61254											
MYO7A	4647	broad.mit.edu	37	chr11	76910689	76910689	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgttctccgtgttggtccTgcaggggagcgaaaacgacg	14	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:76910689T>C	uc001oyb.2	+	35	4950	c.4678T>C	c.(4678-4680)TGC>CGC	p.C1560R	MYO7A_uc010rsm.1_Intron|MYO7A_uc001oyc.2_Intron|MYO7A_uc009yus.1_Intron|MYO7A_uc009yut.1_Intron	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1560	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						GTGTTGGTCCTGCAGGGGAGC	0.627													C	76910689	T	C	76910689	3	2	94	1	0	0	0	0	1	0	0	0	10082	1580	55	3	4846	3	MYO7A	11	76910689	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	159501	76910689	58095827	2122	61255											
GAB2	9846	broad.mit.edu	37	chr11	77930333	77930333	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcatcacagcttggcaccCttggaaggctctgaggactg	11	12	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:77930333C>A	uc001ozh.2	-	10	2016	c.2016G>T	c.(2014-2016)AAG>AAT	p.K672N	GAB2_uc001ozg.2_Missense_Mutation_p.K634N	NM_080491	NP_536739	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2 isoform a	672					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity			ovary(5)|lung(1)	6	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GCTTGGCACCCTTGGAAGGCT	0.617													A	77930333	C	A	77930333	3	1	94	1	0	0	0	0	1	0	0	0	6149	680	24	5	18	5	GAB2	11	77930333	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1019644	77930333	57076183	2123	61256											
GAB2	9846	broad.mit.edu	37	chr11	77937549	77937549	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccattgcagggagggtgTtgcgtctggggatggtggca	19	6	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:77937549T>C	uc001ozh.2	-	4	1169	c.1169A>G	c.(1168-1170)AAC>AGC	p.N390S	GAB2_uc001ozg.2_Missense_Mutation_p.N352S	NM_080491	NP_536739	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2 isoform a	390					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity			ovary(5)|lung(1)	6	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			AGGGAGGGTGTTGCGTCTGGG	0.547													C	77937549	T	C	77937549	3	2	94	1	0	0	0	0	1	0	0	0	6149	1725	60	3	889	3	GAB2	11	77937549	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	7216	77937549	57068967	2124	61257											
ODZ4	26011	broad.mit.edu	37	chr11	78467902	78467902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgtgctgtccctgcccaCgaggaacttgatgcggtcat	13	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:78467902C>T	uc001ozl.3	-	19	3167	c.2704G>A	c.(2704-2706)GTG>ATG	p.V902M		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	902	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						TCCCTGCCCACGAGGAACTTG	0.597													T	78467902	C	T	78467902	3	4	94	1	0	0	0	0	1	0	0	0	10837	536	19	1	5669	1	ODZ4	11	78467902	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	530353	78467902	56538614	2125	61258											
C11orf82	220042	broad.mit.edu	37	chr11	82644065	82644065	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taagaagactatcagaatctCaccacacagggagagtgacc	9	10	2	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:82644065C>T	uc001ozt.2	+	6	1929	c.1685C>T	c.(1684-1686)TCA>TTA	p.S562L	C11orf82_uc010rsr.1_Missense_Mutation_p.S261L|C11orf82_uc010rss.1_Missense_Mutation_p.S261L|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	562					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2						ATCAGAATCTCACCACACAGG	0.338													T	82644065	C	T	82644065	3	4	94	1	0	0	0	0	1	0	0	0	1665	838	29	4	1699	4	C11orf82	11	82644065	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4176163	82644065	52362451	2126	61259											
SYTL2	54843	broad.mit.edu	37	chr11	85445464	85445464	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcatggatggttaggccaGgtgacacaattttgcttttg	11	7	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:85445464G>T	uc010rth.1	-	6	1181	c.905C>A	c.(904-906)CCT>CAT	p.P302H	SYTL2_uc010rtg.1_Missense_Mutation_p.P303H|SYTL2_uc010rti.1_Missense_Mutation_p.P302H|SYTL2_uc010rtj.1_Missense_Mutation_p.P254H|SYTL2_uc001pbf.3_Missense_Mutation_p.P302H|SYTL2_uc010rtf.1_Missense_Mutation_p.P160H	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	302					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GGTTAGGCCAGGTGACACAAT	0.453													T	85445464	G	T	85445464	3	4	94	1	0	0	0	0	1	0	0	0	15480	1000	35	5	4432	5	SYTL2	11	85445464	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2801399	85445464	49561052	2127	61260											
CCDC81	60494	broad.mit.edu	37	chr11	86133683	86133683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcaagcaatgccagaggCgcacctccaacgtgggcgag	14	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:86133683C>T	uc001pbx.1	+	15	2313	c.1885C>T	c.(1885-1887)CGC>TGC	p.R629C	CCDC81_uc001pbw.1_Missense_Mutation_p.R539C|CCDC81_uc010rtq.1_Missense_Mutation_p.R412C|CCDC81_uc001pby.1_Missense_Mutation_p.R364C	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81 isoform 1	629										skin(1)	1		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				ATGCCAGAGGCGCACCTCCAA	0.557													T	86133683	C	T	86133683	3	4	94	1	0	0	0	0	1	0	0	0	2855	768	27	1	1943	1	CCDC81	11	86133683	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	688219	86133683	48872833	2128	61261											
TMEM135	65084	broad.mit.edu	37	chr11	86782632	86782632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgccagcatcttatgtgGccattctcattgaaagaaaa	7	10	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:86782632G>A	uc001pch.2	+	3	360	c.337G>A	c.(337-339)GCC>ACC	p.A113T	TMEM135_uc010rtt.1_5'UTR|TMEM135_uc001pci.2_Missense_Mutation_p.A113T|TMEM135_uc001pcg.1_Missense_Mutation_p.A113T	NM_022918	NP_075069	Q86UB9	TM135_HUMAN	transmembrane protein 135	113	Helical; (Potential).					integral to membrane					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATCTTATGTGGCCATTCTCAT	0.338													A	86782632	G	A	86782632	3	1	94	1	0	0	0	0	1	0	0	0	16048	1203	42	2	347	2	TMEM135	11	86782632	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	648949	86782632	48223884	2129	61262											
TMEM135	65084	broad.mit.edu	37	chr11	87025590	87025590	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcgtccaaattggtagagGtaagcgaaatttttgtgcaa	11	5	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:87025590G>A	uc001pch.2	+	12	1100	c.1077_splice	c.e12+1	p.E359_splice	TMEM135_uc010rtt.1_Splice_Site_p.E220_splice|TMEM135_uc001pci.2_Splice_Site_p.E337_splice	NM_022918	NP_075069	Q86UB9	TM135_HUMAN	transmembrane protein 135							integral to membrane					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATTGGTAGAGGTAAGCGAAAT	0.318													A	87025590	G	A	87025590	5	1	94	1	0	0	0	0	0	0	1	0	16048	1275	44	4	1124	4	TMEM135	11	87025590	Splice_Site	SNP	G	TCGA-BR-8487-01A-11D-2394-08	242958	87025590	47980926	2130	61263											
FAT3	120114	broad.mit.edu	37	chr11	92531598	92531598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagatgctgacagcaacCggaatgctctgcttgtgtat	10	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:92531598C>T	uc001pdj.3	+	9	5436	c.5419C>T	c.(5419-5421)CGG>TGG	p.R1807W		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1807	Cadherin 16.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGACAGCAACCGGAATGCTCT	0.483										TCGA Ovarian(4;0.039)			T	92531598	C	T	92531598	3	4	94	1	0	0	0	0	1	0	0	0	5691	643	23	1	5453	1	FAT3	11	92531598	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	5506008	92531598	42474918	2131	61264											
FAT3	120114	broad.mit.edu	37	chr11	92569867	92569867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagaaattggaccgggaaCgggtaagctagtttaggaca	14	5	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:92569867C>T	uc001pdj.3	+	15	10239	c.10222C>T	c.(10222-10224)CGG>TGG	p.R3408W		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3408	Extracellular (Potential).|Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGACCGGGAACGGGTAAGCTA	0.418										TCGA Ovarian(4;0.039)			T	92569867	C	T	92569867	3	4	94	1	0	0	0	0	1	0	0	0	5691	527	19	1	10280	1	FAT3	11	92569867	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	38269	92569867	42436649	2132	61265											
FAT3	120114	broad.mit.edu	37	chr11	92590423	92590423	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccttgtgtggagaagccGtgtccaggggacatgcagtg	16	8	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:92590423G>A	uc001pdj.3	+	19	11426	c.11409G>A	c.(11407-11409)CCG>CCA	p.P3803P	FAT3_uc001pdi.3_Silent_p.P243P	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3803	EGF-like 1.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGAGAAGCCGTGTCCAGGGG	0.557										TCGA Ovarian(4;0.039)			A	92590423	G	A	92590423	2	1	94	1	0	0	0	0	0	0	0	1	5691	1132	40	1		1	FAT3	11	92590423	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	20556	92590423	42416093	2133	61266											
MED17	9440	broad.mit.edu	37	chr11	93530729	93530729	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagaccttgagttccatcaTgatgcctcatccagcaagtg	8	12	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:93530729T>C	uc001pem.3	+	8	1447	c.1172T>C	c.(1171-1173)ATG>ACG	p.M391T		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	391					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGTTCCATCATGATGCCTCAT	0.353													C	93530729	T	C	93530729	3	2	94	1	0	0	0	0	1	0	0	0	9435	1464	51	3	1202	3	MED17	11	93530729	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	940306	93530729	41475787	2134	61267											
PIWIL4	143689	broad.mit.edu	37	chr11	94326792	94326792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcccacctgatacctgagCtctgctttctaacaggtaat	7	13	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:94326792C>T	uc001pfa.2	+	9	1346	c.1135C>T	c.(1135-1137)CTC>TTC	p.L379F	PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	379	PAZ.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			skin(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GATACCTGAGCTCTGCTTTCT	0.468													T	94326792	C	T	94326792	3	4	94	1	0	0	0	0	1	0	0	0	11960	797	28	2	1169	2	PIWIL4	11	94326792	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	796063	94326792	40679724	2135	61268											
CNTN5	53942	broad.mit.edu	37	chr11	99715605	99715605	+	Frame_Shift_Del	DEL	T	T	-													aagtgtggactatgggccagTttttgtgcaagaaccagatg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:99715604_99715604GT>G	uc001pga.3	+	4	802	c.298_298GT>G	c.(298-300)gttfs	p.V100fs	CNTN5_uc009ywv.2_Frame_Shift_Del_p.V100fs|CNTN5_uc001pfz.3_Frame_Shift_Del_p.V100fs|CNTN5_uc021qpb.1_Frame_Shift_Del_p.V100fs|CNTN5_uc021qpc.1_Frame_Shift_Del_p.V26fs	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	100	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTATGGGCCAGTTTTTGTGCA	0.338													-	99715605	T	-	99715605	7	5	94	1	0	1	0	1	0	0	0	0	3644	1725	60	0	309	0	CNTN5	11	99715605	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	5388813	99715605	35290911	2136	61269											
CNTN5	53942	broad.mit.edu	37	chr11	99932040	99932040	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggaaataccgaatgtAcagctggatgatgcaggcat	13	7	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:99932040A>G	uc001pga.2	+	10	1416	c.1077A>G	c.(1075-1077)GTA>GTG	p.V359V	CNTN5_uc009ywv.1_Silent_p.V359V|CNTN5_uc001pfz.2_Silent_p.V359V|CNTN5_uc001pgb.2_Silent_p.V285V	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	359	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TACCGAATGTACAGCTGGATG	0.438													G	99932040	A	G	99932040	2	3	94	1	0	0	0	0	0	0	0	1	3644	378	14	3		3	CNTN5	11	99932040	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	216435	99932040	35074476	2137	61270											
TRPC6	7225	broad.mit.edu	37	chr11	101359689	101359689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgcatggagcaaaccaGtaaatgagagccaggaaggg	14	7	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:101359689G>A	uc001pgk.3	-	4	1697	c.1272C>T	c.(1270-1272)TAC>TAT	p.Y424Y	TRPC6_uc009ywy.2_Intron|TRPC6_uc009ywz.1_Intron	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	424	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GAGCAAACCAGTAAATGAGAG	0.438													A	101359689	G	A	101359689	2	1	94	1	0	0	0	0	0	0	0	1	16580	1024	36	4		4	TRPC6	11	101359689	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1427649	101359689	33646827	2138	61271											
BIRC3	330	broad.mit.edu	37	chr11	102195668	102195668	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcttattcaaactctccatCaaatcctgtaaactccagag	3	13	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:102195668C>T	uc001pgx.2	+	3	650	c.428C>T	c.(427-429)TCA>TTA	p.S143L		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	baculoviral IAP repeat-containing protein 3	143					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|skin(1)	4	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		AACTCTCCATCAAATCCTGTA	0.388			T	MALT1	MALT								T	102195668	C	T	102195668	3	4	94	1	0	0	0	0	1	0	0	0	1436	838	29	4	430	4	BIRC3	11	102195668	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	835979	102195668	32810848	2139	61272											
MMP8	4317	broad.mit.edu	37	chr11	102585357	102585357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgcgtcaattgcttggaCgctgctggggaagccatagt	14	9	1	0	rs149306045	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:102585357C>T	uc001phe.2	-	8	1219	c.1120G>A	c.(1120-1122)GTC>ATC	p.V374I	MMP8_uc010rut.1_Intron|MMP8_uc010ruu.1_Missense_Mutation_p.V351I	NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	374					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		ATTGCTTGGACGCTGCTGGGG	0.398													T	102585357	C	T	102585357	3	4	94	1	0	0	0	0	1	0	0	0	9668	536	19	1	295	1	MMP8	11	102585357	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	389689	102585357	32421159	2140	61273											
CASP5	838	broad.mit.edu	37	chr11	104871014	104871014	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcctggacaatgatgAccttgggtttgtcctttaga	12	8	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:104871014A>G	uc010rva.1	-	6	958	c.926T>C	c.(925-927)GTC>GCC	p.V309A	CASP5_uc010ruz.1_Missense_Mutation_p.V322A|CASP5_uc010rvb.1_Missense_Mutation_p.V251A|CASP5_uc010rvc.1_Missense_Mutation_p.V167A|CASP5_uc009yxh.2_Missense_Mutation_p.V91A|CASP5_uc010rvd.1_Missense_Mutation_p.V91A	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor	309					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GACAATGATGACCTTGGGTTT	0.438													G	104871014	A	G	104871014	3	3	94	1	0	0	0	0	1	0	0	0	2674	275	10	3	394	3	CASP5	11	104871014	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	2285657	104871014	30135502	2141	61274											
CUL5	8065	broad.mit.edu	37	chr11	107965658	107965658	+	Frame_Shift_Del	DEL	A	A	-													cggaagtagaagaattctacAaaaaaaatcatagtggtaga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:107965657_107965657CA>C	uc001pjv.3	+	14	2353	c.1686_1686CA>C	c.(1684-1686)tacfs	p.Y562fs	CUL5_uc001pju.3_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	562					G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AAGAATTCTACAAAAAAAATC	0.368													-	107965658	A	-	107965658	7	5	94	1	0	1	0	1	0	0	0	0	4059	131	5	0	1745	0	CUL5	11	107965658	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	3094644	107965658	27040858	2142	61275											
ATM	472	broad.mit.edu	37	chr11	108216477	108216477	+	Frame_Shift_Del	DEL	A	A	-													tctctatttaaaggaggtgcAaaaaaagtcttttgaagaga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:108216476_108216476CA>C	uc001pkb.1	+	57	8810	c.8425_8425CA>C	c.(8425-8427)caafs	p.Q2809fs	ATM_uc009yxr.1_Frame_Shift_Del_p.Q2809fs|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Frame_Shift_Del_p.Q1461fs	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2809	PI3K/PI4K.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AAAGGAGGTGCAAAAAAAGTC	0.274			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			-	108216477	A	-	108216477	7	5	94	1	0	1	0	1	0	0	0	0	1109	130	5	0	8652	0	ATM	11	108216477	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	250819	108216477	26790039	2143	61276											
FDXACB1	91893	broad.mit.edu	37	chr11	111747642	111747642	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacttgccaactgttgtgCcattctctctggggcttatc	8	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:111747642C>T	uc001pmc.3	-	3	720	c.423G>A	c.(421-423)TGG>TGA	p.W141*	ALG9_uc010rwo.1_5'UTR|FDXACB1_uc009yyi.2_5'UTR|C11orf1_uc001pmd.2_5'Flank	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain	141					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0						AACTGTTGTGCCATTCTCTCT	0.532													T	111747642	C	T	111747642	4	4	94	1	0	0	0	0	0	1	0	0	5806	740	26	2	1463	2	FDXACB1	11	111747642	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3531165	111747642	23258874	2144	61277											
FDXACB1	91893	broad.mit.edu	37	chr11	111749409	111749409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacatctgccagctgggtgCagtccacaccgaaacgtaca	10	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:111749409C>T	uc001pmc.3	-	2	497	c.200G>A	c.(199-201)TGC>TAC	p.C67Y	ALG9_uc010rwo.1_5'UTR|FDXACB1_uc009yyi.2_Intron|C11orf1_uc001pmd.2_5'Flank|C11orf1_uc001pme.2_5'Flank	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain	67					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0						CAGCTGGGTGCAGTCCACACC	0.463											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	111749409	C	T	111749409	3	4	94	1	0	0	0	0	1	0	0	0	5806	710	25	2	1690	2	FDXACB1	11	111749409	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1767	111749409	23257107	2145	61278											
ZW10	9183	broad.mit.edu	37	chr11	113614710	113614710	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgtacttccagtttgttaTcctcatcaggagtgggtaac	9	9	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:113614710T>A	uc001poe.2	-	10	1362	c.1325A>T	c.(1324-1326)GAT>GTT	p.D442V	ZW10_uc009yyv.2_RNA	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	442					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CAGTTTGTTATCCTCATCAGG	0.348													A	113614710	T	A	113614710	3	1	94	1	0	0	0	0	1	0	0	0	18244	1435	50	5	1042	5	ZW10	11	113614710	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1865301	113614710	21391806	2146	61279											
ZBTB16	7704	broad.mit.edu	37	chr11	113934299	113934300	+	Frame_Shift_Ins	INS	-	-	A													tgcatatacagccacgctgcINSaagccaaggcggaggacctg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:113934299_113934300insA	uc001pop.2	+	2	541_542	c.277_278insA	c.(277-279)CAAfs	p.Q93fs	ZBTB16_uc001poo.1_Frame_Shift_Ins_p.Q93fs|ZBTB16_uc001poq.2_Frame_Shift_Ins_p.Q93fs	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	93	BTB.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGCCACGCTGCAAGCCAAGGCG	0.535													A	113934300	-	A	113934299	7	5	94	1	0	1	1	0	0	0	0	0	17523	711	25	0	279	0	ZBTB16	11	113934299	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	319589	113934299	21072217	2147	61280	288	2									
ZBTB16	7704	broad.mit.edu	37	chr11	113934300	113934301	+	Frame_Shift_Ins	INS	-	-	A													gcatatacagccacgctgcaINSagccaaggcggaggacctgg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:113934299_113934300C>CA	uc001pop.3	+	1	541_542	c.277_278C>CA	c.(277-279)caafs	p.Q93fs	ZBTB16_uc001poo.1_Frame_Shift_Ins_p.Q93fs|ZBTB16_uc001poq.3_Frame_Shift_Ins_p.Q93fs	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	93	BTB.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGCCACGCTGCAAGCCAAGGCG	0.535													A	113934301	-	A	113934300	7	5	94	1	0	1	1	0	0	0	0	0	17523	130	5	0	280	0	ZBTB16	11	113934300	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	113934300	21072216	2148	61281	288	2									
APOA1	335	broad.mit.edu	37	chr11	116707727	116707727	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtccttactttagctgttTtcccaaggcggagccttcaa	10	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:116707727T>C	uc001ppu.1	-	3	269	c.190A>G	c.(190-192)AAA>GAA	p.K64E	APOA1_uc001ppv.1_Missense_Mutation_p.K64E	NM_000039	NP_000030	P02647	APOA1_HUMAN	apolipoprotein A-I preproprotein	64					Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding				0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TTTAGCTGTTTTCCCAAGGCG	0.582													C	116707727	T	C	116707727	3	2	94	1	0	0	0	0	1	0	0	0	780	1850	64	3	621	3	APOA1	11	116707727	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2773427	116707727	18298789	2149	61282											
SIK3	23387	broad.mit.edu	37	chr11	116968908	116968908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgaccaccgcgaagttgCccttgccgatggtgcggtcg	14	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:116968908C>T	uc001ppy.2	-	1	86	c.50G>A	c.(49-51)GGC>GAC	p.G17D	SIK3_uc001ppz.2_5'UTR|SIK3_uc001pqa.2_Missense_Mutation_p.G17D	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	17	ATP (By similarity).|Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						CGCGAAGTTGCCCTTGCCGAT	0.577													T	116968908	C	T	116968908	3	4	94	1	0	0	0	0	1	0	0	0	14319	739	26	2	3833	2	SIK3	11	116968908	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	261181	116968908	18037608	2150	61283											
CEP164	22897	broad.mit.edu	37	chr11	117214899	117214899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaattcttgaatttgccCgggagattggtattgatccc	10	8	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:117214899C>T	uc001prc.2	+	4	247	c.100C>T	c.(100-102)CGG>TGG	p.R34W	CEP164_uc001prb.2_Missense_Mutation_p.R34W|CEP164_uc001prd.2_Missense_Mutation_p.R34W|CEP164_uc010rxj.1_5'UTR|CEP164_uc010rxk.1_Missense_Mutation_p.R34W	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	34	Interaction with ATRIP.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TGAATTTGCCCGGGAGATTGG	0.463													T	117214899	C	T	117214899	3	4	94	1	0	0	0	0	1	0	0	0	3249	643	23	1	106	1	CEP164	11	117214899	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	245991	117214899	17791617	2151	61284											
DSCAML1	57453	broad.mit.edu	37	chr11	117309654	117309654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaggtcagggtgatggacGaagctgaggttttggagaca	16	6	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:117309654G>A	uc001prh.1	-	24	4372	c.4370C>T	c.(4369-4371)TCG>TTG	p.S1457L		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1397	Fibronectin type-III 5.|Extracellular (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGTGATGGACGAAGCTGAGGT	0.617													A	117309654	G	A	117309654	3	1	94	1	0	0	0	0	1	0	0	0	4769	1059	37	1	2011	1	DSCAML1	11	117309654	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	94755	117309654	17696862	2152	61285											
TMPRSS4	56649	broad.mit.edu	37	chr11	117975456	117975456	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtgctggactcggccacaGggaactggttctctgcctgt	14	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:117975456G>T	uc010rxo.1	+	5	652	c.361G>T	c.(361-363)GGG>TGG	p.G121W	TMPRSS4_uc010rxp.1_Missense_Mutation_p.G121W|TMPRSS4_uc010rxq.1_Translation_Start_Site|TMPRSS4_uc010rxr.1_Missense_Mutation_p.G96W|TMPRSS4_uc010rxs.1_Missense_Mutation_p.G81W|TMPRSS4_uc009yzu.2_RNA|TMPRSS4_uc010rxt.1_Missense_Mutation_p.G96W	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4 isoform 1	121	Extracellular (Potential).|SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CTCGGCCACAGGGAACTGGTT	0.592													T	117975456	G	T	117975456	3	4	94	1	0	0	0	0	1	0	0	0	16246	1000	35	5	379	5	TMPRSS4	11	117975456	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	665802	117975456	17031060	2153	61286											
MLL	4297	broad.mit.edu	37	chr11	118376815	118376815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccagcctgtggctttacCgccaagttcaggaatgtttc	11	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:118376815C>T	uc001pta.2	+	27	10222	c.10199C>T	c.(10198-10200)CCG>CTG	p.P3400L	MLL_uc001ptb.2_Missense_Mutation_p.P3403L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3400					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GTGGCTTTACCGCCAAGTTCA	0.517			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								T	118376815	C	T	118376815	3	4	94	1	0	0	0	0	1	0	0	0	9620	652	23	1	10305	1	MLL	11	118376815	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	401359	118376815	16629701	2154	61287											
MLL	4297	broad.mit.edu	37	chr11	118392684	118392684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgcatggaaatgctgcaCgcttcatcaatcactcgtgt	8	12	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:118392684C>T	uc001pta.2	+	36	11730	c.11707C>T	c.(11707-11709)CGC>TGC	p.R3903C	MLL_uc001ptb.2_Missense_Mutation_p.R3906C|MLL_uc001ptf.2_5'Flank	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3903	SET.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AAATGCTGCACGCTTCATCAA	0.473			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								T	118392684	C	T	118392684	3	4	94	1	0	0	0	0	1	0	0	0	9620	536	19	1	11849	1	MLL	11	118392684	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	15869	118392684	16613832	2155	61288											
TTC36	143941	broad.mit.edu	37	chr11	118399370	118399370	+	Frame_Shift_Del	DEL	G	G	-													tccaaggccctggagctgcaGggggtgatggcagcagaggc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:118399370delG	uc001ptg.1	+	2	171	c.171delG	c.(169-171)CAGfs	p.Q57fs	TTC36_uc010ryb.1_RNA|TTC36_uc010ryc.1_5'UTR|TMEM25_uc010ryd.1_5'Flank|TMEM25_uc001ptk.3_5'Flank|TMEM25_uc010rye.1_5'Flank|TMEM25_uc001pth.2_5'Flank|TMEM25_uc009zad.2_5'Flank|TMEM25_uc001pti.2_5'Flank|TMEM25_uc010ryf.1_5'Flank|TMEM25_uc001ptl.2_5'Flank|TMEM25_uc001ptm.2_5'Flank	NM_001080441	NP_001073910	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	57	TPR 1.						binding				0						TGGAGCTGCAGGGGGTGATGG	0.607													-	118399370	G	-	118399370	7	5	94	1	0	1	0	1	0	0	0	0	16701	991	35	0	177	0	TTC36	11	118399370	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	6686	118399370	16607146	2156	61289											
TMEM25	84866	broad.mit.edu	37	chr11	118403005	118403005	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtatctggatggacagCtgcaggaggccagcacctca	13	12	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:118403005C>T	uc010rye.1	+	3	385	c.211C>T	c.(211-213)CTG>TTG	p.L71L	TMEM25_uc010ryd.1_Silent_p.L71L|TMEM25_uc001ptk.3_Silent_p.L71L|TMEM25_uc001pth.2_Silent_p.L71L|TMEM25_uc009zad.2_Silent_p.L71L|TMEM25_uc001pti.2_Intron|TMEM25_uc010ryf.1_Silent_p.L71L|TMEM25_uc001ptl.2_Silent_p.L71L|TMEM25_uc001ptm.2_Silent_p.L71L|TMEM25_uc001ptn.2_Silent_p.L71L	NM_032780	NP_116169	Q86YD3	TMM25_HUMAN	transmembrane protein 25 isoform 1	71	Extracellular (Potential).|Ig-like.					extracellular region|integral to membrane|plasma membrane					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GGATGGACAGCTGCAGGAGGC	0.657													T	118403005	C	T	118403005	2	4	94	1	0	0	0	0	0	0	0	1	16147	796	28	2		2	TMEM25	11	118403005	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3635	118403005	16603511	2157	61290											
DDX6	1656	broad.mit.edu	37	chr11	118629614	118629614	+	Splice_Site	DEL	G	G	-													tttctgcaaatgggaattctGgggggggagcgggaaaaaga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:118629613_118629613TG>T	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAG	0.423			T	IGH@	B-NHL								-	118629614	G	-	118629614	8	5	94	1	0	1	0	1	0	0	1	0	4377	1363	47	0		0	DDX6	11	118629614	Splice_Site	DEL	G	TCGA-BR-8487-01A-11D-2394-08	226609	118629614	16376902	2158	61291											
HINFP	25988	broad.mit.edu	37	chr11	119005125	119005125	+	Frame_Shift_Del	DEL	C	C	-													ctgaagccccaggggagcctCccccagcccctgagccacct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:119005124_119005124TC>T	uc001pvp.3	+	10	1714	c.1470_1470TC>T	c.(1468-1470)cctfs	p.P490fs	HINFP_uc021qrj.1_3'UTR|HINFP_uc001pvq.3_Frame_Shift_Del_p.P490fs|HINFP_uc001pvr.3_Frame_Shift_Del_p.P243fs	NM_015517	NP_945322	Q9BQA5	HINFP_HUMAN	Homo sapiens histone H4 transcription factor (HINFP), transcript variant 1, mRNA.	490	Interaction with NPAT.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CAGGGGAGCCTCCCCCAGCCC	0.567											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	119005125	C	-	119005125	7	5	94	1	0	1	0	1	0	0	0	0	7110	855	30	0	1505	0	HINFP	11	119005125	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	375511	119005125	16001391	2159	61292											
NLRX1	79671	broad.mit.edu	37	chr11	119044487	119044487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcaagagcacgctggtgCgcaagatggttctggactgg	16	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:119044487C>T	uc001pvu.2	+	5	744	c.529C>T	c.(529-531)CGC>TGC	p.R177C	NLRX1_uc010rzc.1_5'UTR|NLRX1_uc001pvv.2_Missense_Mutation_p.R177C|NLRX1_uc001pvw.2_Missense_Mutation_p.R177C|NLRX1_uc001pvx.2_Missense_Mutation_p.R177C	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	177	Required for interaction with MAVS.|NACHT.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CACGCTGGTGCGCAAGATGGT	0.632													T	119044487	C	T	119044487	3	4	94	1	0	0	0	0	1	0	0	0	10485	768	27	1	543	1	NLRX1	11	119044487	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	39362	119044487	15962029	2160	61293											
MFRP	83552	broad.mit.edu	37	chr11	119213688	119213688	+	Frame_Shift_Del	DEL	G	G	-													atggtgcgaggagacgaggtGggggggtggctctgctccac							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:119213688delG	uc001pwj.2	-	10	1310	c.1150delC	c.(1150-1152)CACfs	p.H384fs	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Frame_Shift_Del_p.P308fs	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GAGACGAGGTGGGGGGGTGGC	0.622													-	119213688	G	-	119213688	7	5	94	1	0	1	0	1	0	0	0	0	9526	1348	47	0	605	0	MFRP	11	119213688	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	169201	119213688	15792828	2161	61294											
OAF	220323	broad.mit.edu	37	chr11	120082132	120082132	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgaccgaggagagcctgCaggcggacagcgacgcggac	18	11	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:120082132C>T	uc001pxb.2	+	1	386	c.145C>T	c.(145-147)CAG>TAG	p.Q49*		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	OAF homolog precursor	49											0		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		GGAGAGCCTGCAGGCGGACAG	0.617													T	120082132	C	T	120082132	4	4	94	1	0	0	0	0	0	1	0	0	10798	711	25	2	147	2	OAF	11	120082132	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	868444	120082132	14924384	2162	61295											
OAF	220323	broad.mit.edu	37	chr11	120097608	120097608	+	Frame_Shift_Del	DEL	G	G	-													gtcgctgtcaacttcagccaGggggccctgctgagccccca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:120097608delG	uc001pxb.2	+	3	691	c.450delG	c.(448-450)CAGfs	p.Q150fs		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	OAF homolog precursor	150											0		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		ACTTCAGCCAGGGGGCCCTGC	0.627													-	120097608	G	-	120097608	7	5	94	1	0	1	0	1	0	0	0	0	10798	991	35	0	460	0	OAF	11	120097608	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	15476	120097608	14908908	2163	61296											
ARHGEF12	23365	broad.mit.edu	37	chr11	120350888	120350888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaacttgttacagtccacGgacttcaactgaatcttttg	7	10	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:120350888G>A	uc001pxl.1	+	38	3993	c.3986G>A	c.(3985-3987)CGG>CAG	p.R1329Q	ARHGEF12_uc009zat.2_Missense_Mutation_p.R1310Q|ARHGEF12_uc009zau.1_Missense_Mutation_p.R1226Q	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1329					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TACAGTCCACGGACTTCAACT	0.448			T	MLL	AML								A	120350888	G	A	120350888	3	1	94	1	0	0	0	0	1	0	0	0	897	1116	39	1	4136	1	ARHGEF12	11	120350888	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	253280	120350888	14655628	2164	61297											
GRIK4	2900	broad.mit.edu	37	chr11	120856905	120856905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcctgcgggcacggccgtCgcccgcccgcagcgaggaga	18	16	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:120856905C>T	uc001pxn.2	+	21	3094	c.2807C>T	c.(2806-2808)TCG>TTG	p.S936L	GRIK4_uc009zaw.1_Missense_Mutation_p.S936L|GRIK4_uc009zax.1_Missense_Mutation_p.S936L	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	936	Cytoplasmic (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GCACGGCCGTCGCCCGCCCGC	0.692													T	120856905	C	T	120856905	3	4	94	1	0	0	0	0	1	0	0	0	6776	893	31	1	2881	1	GRIK4	11	120856905	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	506017	120856905	14149611	2165	61298											
GRAMD1B	57476	broad.mit.edu	37	chr11	123448200	123448200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagggctcagatcactcctCggacaagtccccgtccacac	9	16	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:123448200C>T	uc001pyx.2	+	2	478	c.149C>T	c.(148-150)TCG>TTG	p.S50L	GRAMD1B_uc001pyw.2_Missense_Mutation_p.S50L|GRAMD1B_uc010rzw.1_Missense_Mutation_p.S10L|GRAMD1B_uc010rzx.1_Missense_Mutation_p.S10L|GRAMD1B_uc009zbe.1_Missense_Mutation_p.S46L	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	50						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GATCACTCCTCGGACAAGTCC	0.687											OREG0021454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	123448200	C	T	123448200	3	4	94	1	0	0	0	0	1	0	0	0	6748	893	31	1	155	1	GRAMD1B	11	123448200	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2591295	123448200	11558316	2166	61299											
GRAMD1B	57476	broad.mit.edu	37	chr11	123484310	123484310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctggaagaggtgatgaGcccggtcaccacgcccacag	12	14	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:123484310G>A	uc001pyx.2	+	15	2071	c.1742G>A	c.(1741-1743)AGC>AAC	p.S581N	GRAMD1B_uc001pyw.2_Missense_Mutation_p.S588N|GRAMD1B_uc010rzw.1_Missense_Mutation_p.S541N|GRAMD1B_uc010rzx.1_Missense_Mutation_p.S541N|GRAMD1B_uc001pyy.2_Missense_Mutation_p.S272N	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	581						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GAGGTGATGAGCCCGGTCACC	0.602													A	123484310	G	A	123484310	3	1	94	1	0	0	0	0	1	0	0	0	6748	971	34	2	1800	2	GRAMD1B	11	123484310	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	36110	123484310	11522206	2167	61300											
ZNF202	7753	broad.mit.edu	37	chr11	123597198	123597198	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcggaagtgctttccgcaaTcatcacatctatagggtttc	9	10	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:123597198T>C	uc001pzd.1	-	9	1854	c.1454A>G	c.(1453-1455)GAT>GGT	p.D485G	ZNF202_uc001pzc.1_Missense_Mutation_p.D261G|ZNF202_uc001pze.1_Missense_Mutation_p.D485G|ZNF202_uc001pzf.1_Missense_Mutation_p.D485G	NM_003455	NP_003446	O95125	ZN202_HUMAN	zinc finger protein 202	485	C2H2-type 3.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CTTTCCGCAATCATCACATCT	0.458													C	123597198	T	C	123597198	3	2	94	1	0	0	0	0	1	0	0	0	17760	1435	50	3	496	3	ZNF202	11	123597198	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	112888	123597198	11409318	2168	61301											
OR10G4	390264	broad.mit.edu	37	chr11	123886751	123886751	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctctctgcactctgctgTccagaccatattgactttcc	7	14	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:123886751T>C	uc010sac.1	+	1	470	c.470T>C	c.(469-471)GTC>GCC	p.V157A		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G,	157	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CACTCTGCTGTCCAGACCATA	0.577													C	123886751	T	C	123886751	3	2	94	1	0	0	0	0	1	0	0	0	10901	1667	58	3	472	3	OR10G4	11	123886751	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	289553	123886751	11119765	2169	61302											
OR8B4	283162	broad.mit.edu	37	chr11	124294519	124294519	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atactttctgaaacaaagtcAttcagcattttgggggtaaa	8	6	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:124294519A>G	uc010sak.1	-	1	249	c.249T>C	c.(247-249)AAT>AAC	p.N83N		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	83	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAACAAAGTCATTCAGCATTT	0.378													G	124294519	A	G	124294519	2	3	94	1	0	0	0	0	0	0	0	1	11229	214	8	3		3	OR8B4	11	124294519	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	407768	124294519	10711997	2170	61303											
ROBO3	64221	broad.mit.edu	37	chr11	124738881	124738881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggatccgcgtgcgcaccGcctgctgctgcccagcggcg	16	16	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:124738881G>A	uc001qbc.2	+	2	536	c.344G>A	c.(343-345)CGC>CAC	p.R115H		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	115	Ig-like C2-type 1.|Extracellular (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CGTGCGCACCGCCTGCTGCTG	0.697													A	124738881	G	A	124738881	3	1	94	1	0	0	0	0	1	0	0	0	13515	1087	38	1	350	1	ROBO3	11	124738881	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	444362	124738881	10267635	2171	61304											
HEPN1	641654	broad.mit.edu	37	chr11	124789773	124789773	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggaatacacagagggccTccttctctttcagcttttta	7	10	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:124789773T>C	uc001qbj.1	+	1	628	c.127T>C	c.(127-129)TCC>CCC	p.S43P	HEPACAM_uc009zbj.2_3'UTR|HEPACAM_uc001qbk.2_3'UTR	NM_001037558	NP_001032647	Q6WQI6	HEPN1_HUMAN	HEPACAM opposite strand 1	43						cytoplasm					0	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		ACAGAGGGCCTCCTTCTCTTT	0.507													C	124789773	T	C	124789773	3	2	94	1	0	0	0	0	1	0	0	0	7056	1551	54	3	129	3	HEPN1	11	124789773	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	50892	124789773	10216743	2172	61305											
SRPR	6734	broad.mit.edu	37	chr11	126137069	126137069	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaaagaactcaaacttgCcttccttcttggcccccttt	4	15	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:126137069C>T	uc001qdh.2	-	4	577	c.526_splice	c.e4+1	p.G176_splice	SRPR_uc010sbm.1_Splice_Site_p.G148_splice|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor						SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CTCAAACTTGCCTTCCTTCTT	0.458													T	126137069	C	T	126137069	5	4	94	1	0	0	0	0	0	0	1	0	15161	753	26	2	1433	2	SRPR	11	126137069	Splice_Site	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1347296	126137069	8869447	2173	61306											
ETS1	2113	broad.mit.edu	37	chr11	128332264	128332264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttcagtgccatcactcgtCggcatctggcttgacgtcca	9	15	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:128332264C>T	uc010sbs.1	-	8	1634	c.1318G>A	c.(1318-1320)GAC>AAC	p.D440N	ETS1_uc001qej.2_Missense_Mutation_p.D484N|ETS1_uc009zch.2_Missense_Mutation_p.D224N|ETS1_uc009zcg.2_3'UTR	NM_005238	NP_005229	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	440					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(4)|central_nervous_system(1)|pleura(1)	6	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		CATCACTCGTCGGCATCTGGC	0.547													T	128332264	C	T	128332264	3	4	94	1	0	0	0	0	1	0	0	0	5275	884	31	1	11	1	ETS1	11	128332264	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2195195	128332264	6674252	2174	61307											
ARHGAP32	9743	broad.mit.edu	37	chr11	128839759	128839759	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgttatcatattgggacatGacaggccctttcaccttctg	8	10	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:128839759G>A	uc009zcp.2	-	22	5307	c.5307C>T	c.(5305-5307)GTC>GTT	p.V1769V	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.V728V|ARHGAP32_uc001qez.2_Silent_p.V1420V	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1769	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						ATTGGGACATGACAGGCCCTT	0.527													A	128839759	G	A	128839759	2	1	94	1	0	0	0	0	0	0	0	1	881	1277	45	4		4	ARHGAP32	11	128839759	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	507495	128839759	6166757	2175	61308											
ADAMTS15	170689	broad.mit.edu	37	chr11	130332061	130332061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgagccaaccacatgatGtccccgaccctcatccagat	6	18	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:130332061G>A	uc010scd.1	+	3	1170	c.1170G>A	c.(1168-1170)ATG>ATA	p.M390I		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	390	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		ACCACATGATGTCCCCGACCC	0.587													A	130332061	G	A	130332061	3	1	94	1	0	0	0	0	1	0	0	0	260	1377	48	4	1180	4	ADAMTS15	11	130332061	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1492302	130332061	4674455	2176	61309											
NTM	50863	broad.mit.edu	37	chr11	132204993	132204993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcgaggagggcaggctgcGtctggctgctgcctcttctg	16	12	3	0	rs145004908		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:132204993G>A	uc001qgp.2	+	7	1652	c.988G>A	c.(988-990)GTC>ATC	p.V330I	NTM_uc001qgm.2_Missense_Mutation_p.V330I|NTM_uc010sch.1_Missense_Mutation_p.V332I|NTM_uc010sci.1_Missense_Mutation_p.V341I|NTM_uc010scj.1_Missense_Mutation_p.V289I|NTM_uc001qgq.2_Missense_Mutation_p.V341I|NTM_uc001qgr.2_Missense_Mutation_p.V112I	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	330					cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						GGCAGGCTGCGTCTGGCTGCT	0.607													A	132204993	G	A	132204993	3	1	94	1	0	0	0	0	1	0	0	0	10699	1145	40	1	1154	1	NTM	11	132204993	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1872932	132204993	2801523	2177	61310											
JAM3	83700	broad.mit.edu	37	chr11	134018468	134018468	+	Frame_Shift_Del	DEL	G	G	-													tgaacattggcggaattattGggggggttctggttgtcctt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:134018467_134018467TG>T	uc001qhb.2	+	6	897	c.873_873TG>T	c.(871-873)attfs	p.I291fs	JAM3_uc009zcz.2_Frame_Shift_Del_p.I195fs	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	Homo sapiens junctional adhesion molecule 3 (JAM3), transcript variant 1, mRNA.	246					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GCGGAATTATTGGGGGGGTTC	0.488													-	134018468	G	-	134018468	7	5	94	1	0	1	0	1	0	0	0	0	7944	1348	47	0	900	0	JAM3	11	134018468	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	1813475	134018468	988048	2178	61311											
GLB1L3	112937	broad.mit.edu	37	chr11	134147250	134147250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggaagagaatggcgggCatctttttcctgccatttat	10	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:134147250C>T	uc009zdf.2	+	2	414	c.54C>T	c.(52-54)GGC>GGT	p.G18G	GLB1L3_uc010scs.1_Silent_p.G18G|GLB1L3_uc010sct.1_5'Flank	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1 like 3	18					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GAATGGCGGGCATCTTTTTCC	0.552													T	134147250	C	T	134147250	2	4	94	1	0	0	0	0	0	0	0	1	6430	697	25	2		2	GLB1L3	11	134147250	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	128782	134147250	859266	2179	61312											
GLB1L3	112937	broad.mit.edu	37	chr11	134181034	134181034	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccgtcgctgtacctcccGctgtgggacgccctatccta	10	16	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:134181034G>A	uc009zdf.2	+	13	1617	c.1257G>A	c.(1255-1257)CCG>CCA	p.P419P	GLB1L3_uc010scu.1_3'UTR|GLB1L3_uc001qho.3_RNA	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1 like 3	419					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TGTACCTCCCGCTGTGGGACG	0.617													A	134181034	G	A	134181034	2	1	94	1	0	0	0	0	0	0	0	1	6430	1074	38	1		1	GLB1L3	11	134181034	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	33784	134181034	825482	2180	61313											
B3GAT1	27087	broad.mit.edu	37	chr11	134253759	134253759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagttgcggggcgtctccaCgtgcaggtgcgtgtagttga	17	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:134253759C>T	uc001qhq.2	-	4	697	c.436G>A	c.(436-438)GTG>ATG	p.V146M	B3GAT1_uc001qhr.2_Missense_Mutation_p.V146M|B3GAT1_uc010scv.1_Missense_Mutation_p.V159M	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	146	Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GGCGTCTCCACGTGCAGGTGC	0.731													T	134253759	C	T	134253759	3	4	94	1	0	0	0	0	1	0	0	0	1253	536	19	1	580	1	B3GAT1	11	134253759	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	72725	134253759	752757	2181	61314											
B3GAT1	27087	broad.mit.edu	37	chr11	134253872	134253872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgggcacgtgcagcagcGtgttggccatgcgcgtcagc	17	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:134253872G>A	uc001qhq.2	-	4	584	c.323C>T	c.(322-324)ACG>ATG	p.T108M	B3GAT1_uc001qhr.2_Missense_Mutation_p.T108M|B3GAT1_uc010scv.1_Missense_Mutation_p.T121M	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	108	Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GTGCAGCAGCGTGTTGGCCAT	0.721													A	134253872	G	A	134253872	3	1	94	1	0	0	0	0	1	0	0	0	1253	1145	40	1	693	1	B3GAT1	11	134253872	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	113	134253872	752644	2182	61315											
NINJ2	4815	broad.mit.edu	37	chr12	675144	675144	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgagcaggacaccgatgacCacctgcaggagcagagagag	14	11	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:675144C>A	uc001qil.2	-	2	463	c.372G>T	c.(370-372)GTG>GTT	p.V124V	NINJ2_uc010sdr.1_Silent_p.V42V|NINJ2_uc010sds.1_Silent_p.V124V	NM_016533	NP_057617	Q9NZG7	NINJ2_HUMAN	ninjurin 2	78	Helical; (Potential).				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				ovary(2)	2	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			CACCGATGACCACCTGCAGGA	0.637													A	675144	C	A	675144	2	1	94	1	0	0	0	0	0	0	0	1	10419	581	21	5		5	NINJ2	12	675144	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08		675144	133176751	2183	61316											
WNK1	65125	broad.mit.edu	37	chr12	939206	939206	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcccctgagatgtatgaggaGaaatatgatgaatccgttga	12	6	0	6			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:939206G>A	uc001qio.3	+	4	1698	c.1191G>A	c.(1189-1191)GAG>GAA	p.E397E	WNK1_uc001qip.3_Silent_p.E397E	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	397	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TGTATGAGGAGAAATATGATG	0.453													A	939206	G	A	939206	2	1	94	1	0	0	0	0	0	0	0	1	17374	933	33	4		4	WNK1	12	939206	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	264062	939206	132912689	2184	61317											
ERC1	23085	broad.mit.edu	37	chr12	1137146	1137146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttcacccaggcttccacGttcccctcgcttgggtcacc	9	18	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:1137146G>A	uc001qjb.2	+	2	318	c.77G>A	c.(76-78)CGT>CAT	p.R26H	ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.R26H|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.R26H	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	26					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(2)|breast(1)	5	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGGCTTCCACGTTCCCCTCGC	0.572													A	1137146	G	A	1137146	3	1	94	1	0	0	0	0	1	0	0	0	5210	1145	40	1	79	1	ERC1	12	1137146	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	197940	1137146	132714749	2185	61318											
ERC1	23085	broad.mit.edu	37	chr12	1137661	1137661	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagagctgaagaaggaaCgagccctgagaaaagatgaa	13	8	0	6			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:1137661C>T	uc001qjb.2	+	2	833	c.592C>T	c.(592-594)CGA>TGA	p.R198*	ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Nonsense_Mutation_p.R198*|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Nonsense_Mutation_p.R198*	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	198	Potential.				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(2)|breast(1)	5	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GAAGAAGGAACGAGCCCTGAG	0.433													T	1137661	C	T	1137661	4	4	94	1	0	0	0	0	0	1	0	0	5210	528	19	1	594	1	ERC1	12	1137661	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	515	1137661	132714234	2186	61319											
ITFG2	55846	broad.mit.edu	37	chr12	2922024	2922024	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacgttgataacgatacggTaggtgcatgcgcaccgcaag	13	9	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:2922024T>C	uc001qlb.1	+	1	160	c.96_splice	c.e1+2	p.T32_splice	ITFG2_uc001qla.1_Splice_Site_p.T32_splice|ITFG2_uc010seb.1_Splice_Site|ITFG2_uc010sec.1_Splice_Site	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2												0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AACGATACGGTAGGTGCATGC	0.632													C	2922024	T	C	2922024	5	2	94	1	0	0	0	0	0	0	1	0	7870	1652	57	3	100	3	ITFG2	12	2922024	Splice_Site	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1784363	2922024	130929871	2187	61320											
FOXM1	2305	broad.mit.edu	37	chr12	2973658	2973658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcagtggcttcatcttcCgccctaggaggaaacacgag	12	11	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:2973658C>T	uc001qlf.2	-	8	1359	c.1094G>A	c.(1093-1095)CGG>CAG	p.R365Q	FOXM1_uc001qle.2_Missense_Mutation_p.R365Q|FOXM1_uc001qlg.2_Missense_Mutation_p.R350Q|FOXM1_uc009zea.2_Missense_Mutation_p.R350Q|FOXM1_uc009zeb.2_Missense_Mutation_p.R349Q	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	forkhead box M1 isoform 2	365					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CTTCATCTTCCGCCCTAGGAG	0.582													T	2973658	C	T	2973658	3	4	94	1	0	0	0	0	1	0	0	0	6018	652	23	1	1323	1	FOXM1	12	2973658	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	51634	2973658	130878237	2188	61321											
TULP3	7289	broad.mit.edu	37	chr12	3040387	3040387	+	Frame_Shift_Del	DEL	A	A	-													cacctactatatgtacttggAaaaagaagaaaatcagaagg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:3040386_3040386GA>G	uc001qlj.2	+	5	757	c.676_676GA>G	c.(676-678)gaafs	p.E226fs	TULP3_uc010sef.1_Non-coding_Transcript|TULP3_uc009zec.1_5'UTR|TULP3_uc010seh.1_Frame_Shift_Del_p.E226fs|TULP3_uc010sei.1_Frame_Shift_Del_p.E83fs	NM_001160408	NP_001153880	O75386	TULP3_HUMAN	Homo sapiens tubby like protein 3 (TULP3), transcript variant 2, mRNA.	226				PTYYMYLE -> SHLLYVLG (in Ref. 1; AAC95431).	G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TATGTACTTGGAAAAAGAAGA	0.423													-	3040387	A	-	3040387	7	5	94	1	0	1	0	1	0	0	0	0	16772	246	9	0	699	0	TULP3	12	3040387	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	66729	3040387	130811508	2189	61322											
FGF6	2251	broad.mit.edu	37	chr12	4554487	4554487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtagagcctccgctgccGcttgatccccaccaaatagc	9	16	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:4554487G>A	uc001qmr.1	-	1	294	c.250C>T	c.(250-252)CGG>TGG	p.R84W		NM_020996	NP_066276	P10767	FGF6_HUMAN	fibroblast growth factor 6 precursor	84					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			lung(2)|ovary(1)	3			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CTCCGCTGCCGCTTGATCCCC	0.652													A	4554487	G	A	4554487	3	1	94	1	0	0	0	0	1	0	0	0	5856	1086	38	1	388	1	FGF6	12	4554487	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1514100	4554487	129297408	2190	61323											
AKAP3	10566	broad.mit.edu	37	chr12	4735743	4735743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctacccattgaaggacGgcttggagttgcttgttctg	13	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:4735743G>A	uc001qnb.3	-	4	2554	c.2325C>T	c.(2323-2325)GCC>GCT	p.A775A		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	775					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						ATTGAAGGACGGCTTGGAGTT	0.507													A	4735743	G	A	4735743	2	1	94	1	0	0	0	0	0	0	0	1	452	1103	39	1		1	AKAP3	12	4735743	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	181256	4735743	129116152	2191	61324											
AKAP3	10566	broad.mit.edu	37	chr12	4737134	4737134	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtaggatggtggcaatggTtgtgtctttcacttggatct	13	6	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:4737134T>C	uc001qnb.3	-	4	1163	c.934A>G	c.(934-936)ACC>GCC	p.T312A		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	312					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						GTGGCAATGGTTGTGTCTTTC	0.468													C	4737134	T	C	4737134	3	2	94	1	0	0	0	0	1	0	0	0	452	1725	60	3	1635	3	AKAP3	12	4737134	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1391	4737134	129114761	2192	61325											
GALNT8	26290	broad.mit.edu	37	chr12	4829850	4829850	+	Frame_Shift_Del	DEL	T	T	-													cccccaggaagaagatgatgTtttggaggaaactccccaaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:4829850delT	uc001qne.1	+	1	99	c.7delT	c.(7-9)TTTfs	p.F3fs		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	3	Cytoplasmic (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(1)|skin(1)	4						GAAGATGATGTTTTGGAGGAA	0.473													-	4829850	T	-	4829850	7	5	94	1	0	1	0	1	0	0	0	0	6219	1725	60	0	9	0	GALNT8	12	4829850	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	92716	4829850	129022045	2193	61326											
KCNA1	3736	broad.mit.edu	37	chr12	5020649	5020649	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccacgacgaccacgagtgCtgcgagcgcgtggtgatcaa	14	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:5020649C>T	uc001qnh.2	+	2	1210	c.105C>T	c.(103-105)TGC>TGT	p.C35C		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	35				CC->AA: No effect on palmitoylation, no effect on current kinetics.	synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACCACGAGTGCTGCGAGCGCG	0.672													T	5020649	C	T	5020649	2	4	94	1	0	0	0	0	0	0	0	1	8001	805	28	2		2	KCNA1	12	5020649	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	190799	5020649	128831246	2194	61327											
KCNA1	3736	broad.mit.edu	37	chr12	5021254	5021254	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggttctccttcgagctggTggtgcgcttcttcgcctgcc	12	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:5021254T>C	uc001qnh.2	+	2	1815	c.710T>C	c.(709-711)GTG>GCG	p.V237A		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	237	Helical; Name=Segment S2; (Potential).				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTCGAGCTGGTGGTGCGCTTC	0.493													C	5021254	T	C	5021254	3	2	94	1	0	0	0	0	1	0	0	0	8001	1696	59	3	712	3	KCNA1	12	5021254	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	605	5021254	128830641	2195	61328											
NTF3	4908	broad.mit.edu	37	chr12	5604116	5604117	+	Frame_Shift_Del	DEL	TG	TG	-													ggatacggatagacacgtccTgtgtgtgtgccttgtcgaga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:5604115_5604116CTG>C	uc001qnl.4	+	0	818_819	c.735_736CTG>C	c.(733-738)tcctgtfs	p.S245fs	NTF3_uc001qnk.4_Frame_Shift_Del_p.S258fs	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	245					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TAGACACGTCCTGTGTGTGTGC	0.421													-	5604117	TG	-	5604116	7	5	94	1	0	1	0	1	0	0	0	0	10696	1580	55	0	781	0	NTF3	12	5604116	Frame_Shift_Del	DEL	TG	TCGA-BR-8487-01A-11D-2394-08	582862	5604116	128247779	2196	61329											
VWF	7450	broad.mit.edu	37	chr12	6153464	6153464	+	Frame_Shift_Del	DEL	G	G	-													cctggtgactcaccatgcccGgggggcagaggcagccagag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:6153463_6153463CG>C	uc001qnn.1	-	17	2686	c.2436_2436CG>G	c.(2434-2436)ccgfs	p.P812fs	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	812	E1.|TIL 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCACCATGCCCGGGGGGCAGA	0.592													-	6153464	G	-	6153464	7	5	94	1	0	1	0	1	0	0	0	0	17243	1116	39	0	6146	0	VWF	12	6153464	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	549348	6153464	127698431	2197	61330											
VWF	7450	broad.mit.edu	37	chr12	6220099	6220099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaattccccaagatacaCggagaggctcactctcttgc	7	12	2	2	rs140044866	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:6220099C>T	uc001qnn.1	-	4	506	c.256G>A	c.(256-258)GTG>ATG	p.V86M	VWF_uc010set.1_Missense_Mutation_p.V86M|VWF_uc001qno.1_Missense_Mutation_p.V123M	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	86	VWFD 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CCAAGATACACGGAGAGGCTC	0.358													T	6220099	C	T	6220099	3	4	94	1	0	0	0	0	1	0	0	0	17243	536	19	1	8381	1	VWF	12	6220099	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	66635	6220099	127631796	2198	61331											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6438527	6438527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcggcggggccgcaaagcGcctcctcgatgtcctccagg	16	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:6438527G>A	uc001qnu.2	-	10	1600	c.1319C>T	c.(1318-1320)GCG>GTG	p.A440V	TNFRSF1A_uc001qnt.2_Missense_Mutation_p.A332V|TNFRSF1A_uc010sey.1_Missense_Mutation_p.A208V|TNFRSF1A_uc010sez.1_Missense_Mutation_p.A332V|TNFRSF1A_uc009zek.2_Missense_Mutation_p.A397V	NM_001065	NP_001056	P19438	TNR1A_HUMAN	tumor necrosis factor receptor 1 precursor	440	Death.|Cytoplasmic (Potential).				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			lung(2)|skin(1)	3						gccgcAAAGCGCCTCCTCGAT	0.592													A	6438527	G	A	6438527	3	1	94	1	0	0	0	0	1	0	0	0	16290	1087	38	1	52	1	TNFRSF1A	12	6438527	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	218428	6438527	127413368	2199	61332											
IFFO1	25900	broad.mit.edu	37	chr12	6658950	6658950	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggatcatgtcctcgcagTtgcgctgctgagccacatcg	11	13	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:6658950T>C	uc001qpd.1	-	4	1077	c.1043A>G	c.(1042-1044)AAC>AGC	p.N348S	IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_5'Flank|IFFO1_uc001qpb.1_Missense_Mutation_p.N25S|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Missense_Mutation_p.N348S|IFFO1_uc001qpf.1_Missense_Mutation_p.N348S|IFFO1_uc001qoz.1_5'Flank|IFFO1_uc001qpc.1_Missense_Mutation_p.N348S|IFFO1_uc001qpg.2_5'Flank	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan isoform 2	348						intermediate filament					0						GTCCTCGCAGTTGCGCTGCTG	0.617													C	6658950	T	C	6658950	3	2	94	1	0	0	0	0	1	0	0	0	7510	1725	60	3	676	3	IFFO1	12	6658950	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	220423	6658950	127192945	2200	61333											
NOP2	4839	broad.mit.edu	37	chr12	6675296	6675296	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcctcatcctcagagtTggagtcagctccatagtcat	7	13	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:6675296T>C	uc001qpk.1	-	4	489	c.445A>G	c.(445-447)AAC>GAC	p.N149D	NOP2_uc009zeq.1_5'Flank|NOP2_uc001qph.1_Missense_Mutation_p.N145D|NOP2_uc001qpi.1_Missense_Mutation_p.N145D|NOP2_uc001qpj.1_Intron|NOP2_uc001qpl.1_Missense_Mutation_p.N149D|NOP2_uc001qpm.1_Missense_Mutation_p.N149D			P46087	NOP2_HUMAN	Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120.	149					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			ovary(2)	2						TCCTCAGAGTTGGAGTCAGCT	0.493													C	6675296	T	C	6675296	3	2	94	1	0	0	0	0	1	0	0	0	10538	1812	63	3	2041	3	NOP2	12	6675296	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	16346	6675296	127176599	2201	61334											
CHD4	1108	broad.mit.edu	37	chr12	6701672	6701672	+	Frame_Shift_Del	DEL	T	T	-													ggccccagcatgtcatgcagTttttttatctggtcctcctt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:6701672delT	uc001qpo.2	-	19	2999	c.2835delA	c.(2833-2835)AAAfs	p.K945fs	CHD4_uc001qpn.2_Frame_Shift_Del_p.K938fs|CHD4_uc001qpp.2_Frame_Shift_Del_p.K942fs	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	945					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TGTCATGCAGTTTTTTTATCT	0.458													-	6701672	T	-	6701672	7	5	94	1	0	1	0	1	0	0	0	0	3327	1722	60	0	2991	0	CHD4	12	6701672	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	26376	6701672	127150223	2202	61335											
CHD4	1108	broad.mit.edu	37	chr12	6704507	6704507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccccactcacatcaactGttggcgtttctggaggcctc	8	16	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:6704507G>A	uc001qpo.2	-	14	2278	c.2114C>T	c.(2113-2115)ACA>ATA	p.T705I	CHD4_uc001qpn.2_Missense_Mutation_p.T698I|CHD4_uc001qpp.2_Missense_Mutation_p.T702I	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	705					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CACATCAACTGTTGGCGTTTC	0.478													A	6704507	G	A	6704507	3	1	94	1	0	0	0	0	1	0	0	0	3327	1377	48	4	3732	4	CHD4	12	6704507	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2835	6704507	127147388	2203	61336											
PTMS	5763	broad.mit.edu	37	chr12	6879359	6879359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggatgatgaagggcccgCgctgaagagagctgccgaag	17	8	0	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:6879359C>T	uc001qqq.2	+	4	564	c.233C>T	c.(232-234)GCG>GTG	p.A78V	MLF2_uc009zey.1_5'Flank|PTMS_uc001qqr.2_RNA|LAG3_uc001qqs.2_5'Flank|LAG3_uc001qqt.3_5'Flank|LAG3_uc001qqu.2_5'Flank	NM_002824	NP_002815	P20962	PTMS_HUMAN	parathymosin	78	Asp/Glu-rich (acidic).				DNA replication	nucleus				liver(1)	1						GAAGGGCCCGCGCTGAAGAGA	0.622													T	6879359	C	T	6879359	3	4	94	1	0	0	0	0	1	0	0	0	12767	768	27	1	247	1	PTMS	12	6879359	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	174852	6879359	126972536	2204	61337											
CD163	9332	broad.mit.edu	37	chr12	7649477	7649477	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccattcatggtgtttacatTgccagatagcaggttcatgt	9	9	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:7649477T>C	uc001qsz.3	-	5	1159	c.1031A>G	c.(1030-1032)CAA>CGA	p.Q344R	CD163_uc001qta.3_Missense_Mutation_p.Q344R|CD163_uc009zfw.2_Missense_Mutation_p.Q344R	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	344	SRCR 3.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						GTGTTTACATTGCCAGATAGC	0.423													C	7649477	T	C	7649477	3	2	94	1	0	0	0	0	1	0	0	0	2967	1812	63	3	2487	3	CD163	12	7649477	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	770118	7649477	126202418	2205	61338											
GDF3	9573	broad.mit.edu	37	chr12	7843257	7843257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtagaggagcttctgcagGcaggaggaagcttgggaaat	16	5	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:7843257G>A	uc001qte.2	-	2	348	c.312C>T	c.(310-312)TGC>TGT	p.C104C		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	growth differentiation factor 3 precursor	104					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						GCTTCTGCAGGCAGGAGGAAG	0.443													A	7843257	G	A	7843257	2	1	94	1	0	0	0	0	0	0	0	1	6315	1195	42	2		2	GDF3	12	7843257	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	193780	7843257	126008638	2206	61339											
CLEC4A	50856	broad.mit.edu	37	chr12	8290783	8290783	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccaatgagcgctgcgttgTgctaaattttcgtaaatcac	8	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:8290783T>C	uc001qtz.1	+	6	861	c.614T>C	c.(613-615)GTG>GCG	p.V205A	CLEC4A_uc009zga.1_Missense_Mutation_p.V166A|CLEC4A_uc001qub.1_Missense_Mutation_p.V172A|CLEC4A_uc001quc.1_Missense_Mutation_p.V133A|CLEC4A_uc009zgb.1_3'UTR	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A isoform	205	Extracellular (Potential).|C-type lectin.				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity				0				Kidney(36;0.0915)		CGCTGCGTTGTGCTAAATTTT	0.438													C	8290783	T	C	8290783	3	2	94	1	0	0	0	0	1	0	0	0	3512	1696	59	3	636	3	CLEC4A	12	8290783	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	447526	8290783	125561112	2207	61340											
A2M	2	broad.mit.edu	37	chr12	9229987	9229987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcgatggtgatataggcGgagagggtcacttcatcttc	15	7	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:9229987G>A	uc001qvk.1	-	27	3419	c.3306C>T	c.(3304-3306)TCC>TCT	p.S1102S	A2M_uc001qvj.1_Silent_p.S144S|A2M_uc009zgk.1_Silent_p.S952S	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1102					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	TGATATAGGCGGAGAGGGTCA	0.453													A	9229987	G	A	9229987	2	1	94	1	0	0	0	0	0	0	0	1	4	1103	39	1		1	A2M	12	9229987	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	939204	9229987	124621908	2208	61341											
A2M	2	broad.mit.edu	37	chr12	9264788	9264788	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtgaaagttttcatccatGgagacaacacgaaatttcac	9	8	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:9264788G>T	uc001qvk.1	-	4	563	c.450C>A	c.(448-450)TCC>TCA	p.S150S	A2M_uc009zgk.1_5'UTR	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	150					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	TTTCATCCATGGAGACAACAC	0.398													T	9264788	G	T	9264788	2	4	94	1	0	0	0	0	0	0	0	1	4	1335	47	5		5	A2M	12	9264788	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	34801	9264788	124587107	2209	61342											
CD69	969	broad.mit.edu	37	chr12	9907755	9907755	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacagtagaaataaagTagcatttcctctggtagcca	7	9	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:9907755T>C	uc001qwk.2	-	3	371	c.290A>G	c.(289-291)TAC>TGC	p.Y97C	CD69_uc010sgu.1_Missense_Mutation_p.Y97C|CD69_uc010sgv.1_Missense_Mutation_p.Y97C	NM_001781	NP_001772	Q07108	CD69_HUMAN	CD69 molecule	97	C-type lectin.|Extracellular (Potential).					integral to plasma membrane	sugar binding|transmembrane receptor activity				0						AGAAATAAAGTAGCATTTCCT	0.448													C	9907755	T	C	9907755	3	2	94	1	0	0	0	0	1	0	0	0	3031	1638	57	3	321	3	CD69	12	9907755	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	642967	9907755	123944140	2210	61343											
TAS2R20	259295	broad.mit.edu	37	chr12	11149590	11149590	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcccagcaagtcacctgCcacaaaactgaaagaaaggt	8	11	1	2	rs137857369		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:11149590C>T	uc001qzm.2	-	1	885	c.885G>A	c.(883-885)TGG>TGA	p.W295*	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176889	NP_795370	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	295	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity				0						AAGTCACCTGCCACAAAACTG	0.423													T	11149590	C	T	11149590	4	4	94	1	0	0	0	0	0	1	0	0	15568	740	26	2	48	2	TAS2R20	12	11149590	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1241835	11149590	122702305	2211	61344											
PRB3	5544	broad.mit.edu	37	chr12	11421601	11421601	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagattcttcctggctgacAtctagaagagaagcacagga	12	8	2	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:11421601A>G	uc001qzs.2	-	2	104	c.66T>C	c.(64-66)GAT>GAC	p.D22D	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	22						extracellular region	Gram-negative bacterial cell surface binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CCTGGCTGACATCTAGAAGAG	0.428													G	11421601	A	G	11421601	2	3	94	1	0	0	0	0	0	0	0	1	12444	231	8	3		3	PRB3	12	11421601	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	272011	11421601	122430294	2212	61345											
PRB1	5542	broad.mit.edu	37	chr12	11506273	11506273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtggctttcctggaggtGggggaccttgaggtttgttg	17	6	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:11506273G>A	uc001qzw.1	-	4	801	c.764C>T	c.(763-765)CCA>CTA	p.P255L	PRB1_uc001qzu.1_Missense_Mutation_p.P122L|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1 isoform 1	316	13.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in clone CP-5).			extracellular region					0			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TCCTGGAGGTGGGGGACCTTG	0.612													A	11506273	G	A	11506273	3	1	94	1	0	0	0	0	1	0	0	0	12442	1348	47	4	235	4	PRB1	12	11506273	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	84672	11506273	122345622	2213	61346											
MANSC1	54682	broad.mit.edu	37	chr12	12483571	12483571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggagaagcaactgccaccGtagctgggagcgcactcaca	13	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:12483571G>A	uc001rai.1	-	4	944	c.686C>T	c.(685-687)ACG>ATG	p.T229M	MANSC1_uc010shm.1_Missense_Mutation_p.T163M|MANSC1_uc001raj.1_Missense_Mutation_p.T195M|MANSC1_uc009zht.1_Missense_Mutation_p.T148M	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	MANSC domain containing 1 precursor	229	Extracellular (Potential).					integral to membrane					0		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		AACTGCCACCGTAGCTGGGAG	0.507													A	12483571	G	A	12483571	3	1	94	1	0	0	0	0	1	0	0	0	9224	1145	40	1	613	1	MANSC1	12	12483571	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	977298	12483571	121368324	2214	61347											
APOLD1	81575	broad.mit.edu	37	chr12	12940507	12940507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgagcagctggagtctcGggttcagctctgcaccaagt	13	12	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:12940507G>A	uc001rau.3	+	2	845	c.761G>A	c.(760-762)CGG>CAG	p.R254Q	DDX47_uc001rav.2_Intron|APOLD1_uc001raw.3_Missense_Mutation_p.R223Q	NM_001130415	NP_001123887	Q96LR9	APLD1_HUMAN	apolipoprotein L domain containing 1 isoform 1	254					angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process	extracellular region|integral to membrane|plasma membrane	lipid binding			ovary(1)	1		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		CTGGAGTCTCGGGTTCAGCTC	0.587													A	12940507	G	A	12940507	3	1	94	1	0	0	0	0	1	0	0	0	811	1116	39	1	774	1	APOLD1	12	12940507	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	456936	12940507	120911388	2215	61348											
GRIN2B	2904	broad.mit.edu	37	chr12	13717534	13717534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagttcattacagactggcGctcctcgatcgccaccccat	9	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:13717534G>A	uc001rbt.2	-	13	2817	c.2638C>T	c.(2638-2640)CGC>TGC	p.R880C		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	880	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACAGACTGGCGCTCCTCGATC	0.537													A	13717534	G	A	13717534	3	1	94	1	0	0	0	0	1	0	0	0	6780	1087	38	1	1820	1	GRIN2B	12	13717534	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	777027	13717534	120134361	2216	61349											
C12orf60	144608	broad.mit.edu	37	chr12	14976431	14976431	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaccactatgatagacaccTtgaaaaaactgcaggatgta	7	8	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:14976431T>C	uc001rcj.3	+	2	766	c.562T>C	c.(562-564)TTG>CTG	p.L188L		NM_175874	NP_787070	Q5U649	CL060_HUMAN	hypothetical protein LOC144608	188										ovary(1)|central_nervous_system(1)	2						GATAGACACCTTGAAAAAACT	0.413													C	14976431	T	C	14976431	2	2	94	1	0	0	0	0	0	0	0	1	1703	1606	56	3		3	C12orf60	12	14976431	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1258897	14976431	118875464	2217	61350											
PTPRO	5800	broad.mit.edu	37	chr12	15704534	15704534	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctccgtgctggccatcctTagcacacttttaattggact	7	12	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:15704534T>C	uc001rcv.1	+	15	2661	c.2487T>C	c.(2485-2487)CTT>CTC	p.L829L	PTPRO_uc001rcw.1_Silent_p.L829L|PTPRO_uc001rcx.1_Silent_p.L18L|PTPRO_uc001rcy.1_Silent_p.L18L|PTPRO_uc001rcz.1_Silent_p.L18L|PTPRO_uc001rda.1_Silent_p.L18L	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	829	Helical; (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				TGGCCATCCTTAGCACACTTT	0.383													C	15704534	T	C	15704534	2	2	94	1	0	0	0	0	0	0	0	1	12809	1741	61	3		3	PTPRO	12	15704534	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	728103	15704534	118147361	2218	61351											
MGST1	4257	broad.mit.edu	37	chr12	16516861	16516861	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagcacggatctaccacacCattgcatatttgacacccct	7	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:16516861C>A	uc001rdf.2	+	4	419	c.354C>A	c.(352-354)ACC>ACA	p.T118T	MGST1_uc001rdg.2_Silent_p.T118T|MGST1_uc009zih.1_Intron|MGST1_uc001rdh.2_Silent_p.T118T|MGST1_uc001rdi.2_Silent_p.T118T	NM_145792	NP_665735	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	118	Helical; (By similarity).				protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity				0		Hepatocellular(102;0.121)			Glutathione(DB00143)	TCTACCACACCATTGCATATT	0.463													A	16516861	C	A	16516861	2	1	94	1	0	0	0	0	0	0	0	1	9560	581	21	5		5	MGST1	12	16516861	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	812327	16516861	117335034	2219	61352											
ETNK1	55500	broad.mit.edu	37	chr12	22826494	22826494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actacagagtcagtggctgcGtgcttaccttgaagcctaca	10	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:22826494G>A	uc001rft.2	+	6	1134	c.1112G>A	c.(1111-1113)CGT>CAT	p.R371H	ETNK1_uc009ziz.2_Missense_Mutation_p.R371H	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1 isoform A	371					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity				0						CAGTGGCTGCGTGCTTACCTT	0.368													A	22826494	G	A	22826494	3	1	94	1	0	0	0	0	1	0	0	0	5273	1145	40	1	1232	1	ETNK1	12	22826494	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	6309633	22826494	111025401	2220	61353											
ITPR2	3709	broad.mit.edu	37	chr12	26568292	26568292	+	Frame_Shift_Del	DEL	A	A	-													ccatagtgaagtcatccttcAaaaaaaggaacccaataatg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:26568291_26568291CA>C	uc001rhg.3	-	50	7668	c.7251_7251TG>G	c.(7249-7251)ttgfs	p.L2417fs	ITPR2_uc009zjg.1_Frame_Shift_Del_p.L568fs	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	2417					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGTCATCCTTCAAAAAAAGGA	0.408													-	26568292	A	-	26568292	7	5	94	1	0	1	0	1	0	0	0	0	7921	131	5	0	883	0	ITPR2	12	26568292	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	3741798	26568292	107283603	2221	61354											
ITPR2	3709	broad.mit.edu	37	chr12	26639255	26639255	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaagcttctgttaattgccCtttcattccctcttttaaat	4	10	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:26639255C>A	uc001rhg.2	-	41	6010	c.5593G>T	c.(5593-5595)GGG>TGG	p.G1865W	ITPR2_uc009zjg.1_Missense_Mutation_p.G16W	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1865	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					GTTAATTGCCCTTTCATTCCC	0.328													A	26639255	C	A	26639255	3	1	94	1	0	0	0	0	1	0	0	0	7921	681	24	5	2580	5	ITPR2	12	26639255	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	70963	26639255	107212640	2222	61355											
STK38L	23012	broad.mit.edu	37	chr12	27467586	27467586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacaaccttttattggatGccaaggcatgtgaataaact	8	8	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:27467586G>A	uc001rhr.2	+	7	866	c.667G>A	c.(667-669)GCC>ACC	p.A223T	STK38L_uc001rhs.2_RNA|STK38L_uc010sjm.1_Missense_Mutation_p.A130T|STK38L_uc010sjn.1_5'UTR|STK38L_uc010sjo.1_5'Flank	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	223	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|kidney(1)	5	Colorectal(261;0.0847)					TTTATTGGATGCCAAGGCATG	0.398													A	27467586	G	A	27467586	3	1	94	1	0	0	0	0	1	0	0	0	15303	1319	46	2	689	2	STK38L	12	27467586	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	828331	27467586	106384309	2223	61356											
FAR2	55711	broad.mit.edu	37	chr12	29474809	29474809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagttgggaatggagcacGtacaatacagaaatgctgat	13	6	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:29474809G>A	uc001ris.3	+	10	1356	c.1209G>A	c.(1207-1209)ACG>ACA	p.T403T	FAR2_uc001rit.2_Silent_p.T403T|FAR2_uc009zjm.2_Silent_p.T306T	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	403					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0						AATGGAGCACGTACAATACAG	0.423													A	29474809	G	A	29474809	2	1	94	1	0	0	0	0	0	0	0	1	5675	1132	40	1		1	FAR2	12	29474809	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2007223	29474809	104377086	2224	61357											
ERGIC2	51290	broad.mit.edu	37	chr12	29524560	29524560	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttttttccgattcagtcGcctcatcttcaggaaaacct	6	11	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:29524560G>A	uc001riv.2	-	2	140	c.7C>T	c.(7-9)CGA>TGA	p.R3*	ERGIC2_uc001riw.2_RNA	NM_016570	NP_057654	Q96RQ1	ERGI2_HUMAN	PTX1 protein	3	Cytoplasmic (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				ovary(1)	1	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	CGATTCAGTCGCCTCATCTTC	0.373													A	29524560	G	A	29524560	4	1	94	1	0	0	0	0	0	1	0	0	5224	1095	38	1	1178	1	ERGIC2	12	29524560	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	49751	29524560	104327335	2225	61358											
OVCH1	341350	broad.mit.edu	37	chr12	29617462	29617462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactgatgcttccccatccGgtcacagcacagatctccga	8	16	2	2	rs117919494	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:29617462G>A	uc001rix.1	-	18	2103	c.2103C>T	c.(2101-2103)ACC>ACT	p.T701T		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	701	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTCCCCATCCGGTCACAGCAC	0.443													A	29617462	G	A	29617462	2	1	94	1	0	0	0	0	0	0	0	1	11323	1103	39	1		1	OVCH1	12	29617462	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	92902	29617462	104234433	2226	61359											
C12orf35	55196	broad.mit.edu	37	chr12	32137913	32137913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacaaaaacagcttttttgCcaaataaagatgtgtataag	6	5	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:32137913C>T	uc001rks.2	+	4	4438	c.4024C>T	c.(4024-4026)CCA>TCA	p.P1342S	C12orf35_uc001rkt.2_5'Flank	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	1342										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			AGCTTTTTTGCCAAATAAAGA	0.343													T	32137913	C	T	32137913	3	4	94	1	0	0	0	0	1	0	0	0	1682	739	26	2	4026	2	C12orf35	12	32137913	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2520451	32137913	101713982	2227	61360											
BICD1	636	broad.mit.edu	37	chr12	32490722	32490722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccacagacacccaacattCgggtcagcagtggcactcag	10	15	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:32490722C>T	uc001rku.2	+	7	2623	c.2542C>T	c.(2542-2544)CGG>TGG	p.R848W	BICD1_uc001rkv.2_Intron|BICD1_uc010skd.1_Intron|BICD1_uc001rkw.1_Missense_Mutation_p.R130W	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	848					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ACCCAACATTCGGGTCAGCAG	0.507													T	32490722	C	T	32490722	3	4	94	1	0	0	0	0	1	0	0	0	1428	875	31	1	2568	1	BICD1	12	32490722	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	352809	32490722	101361173	2228	61361											
DNM1L	10059	broad.mit.edu	37	chr12	32866233	32866233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctaattccattatcctcGctgtcactgctgctaataca	4	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:32866233G>A	uc001rld.2	+	6	708	c.547G>A	c.(547-549)GCT>ACT	p.A183T	DNM1L_uc010skf.1_Intron|DNM1L_uc010skg.1_RNA|DNM1L_uc001rle.2_Missense_Mutation_p.A183T|DNM1L_uc001rlf.2_Missense_Mutation_p.A183T|DNM1L_uc010skh.1_Missense_Mutation_p.A249T|DNM1L_uc001rlg.2_Missense_Mutation_p.A249T|DNM1L_uc001rlh.2_Missense_Mutation_p.A236T|DNM1L_uc010ski.1_Intron	NM_012062	NP_036192	O00429	DNM1L_HUMAN	dynamin 1-like isoform 1	183	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CATTATCCTCGCTGTCACTGC	0.393													A	32866233	G	A	32866233	3	1	94	1	0	0	0	0	1	0	0	0	4671	1087	38	1	569	1	DNM1L	12	32866233	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	375511	32866233	100985662	2229	61362											
LRRK2	120892	broad.mit.edu	37	chr12	40653408	40653408	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacattttatagtgcctggTaagttacatagttgattgtg	9	4	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:40653408T>C	uc001rmg.3	+	13	1664	c.1543_splice	c.e13+2	p.G515_splice	LRRK2_uc001rmh.1_Splice_Site_p.G137_splice	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAGTGCCTGGTAAGTTACATA	0.348													C	40653408	T	C	40653408	5	2	94	1	0	0	0	0	0	0	1	0	9033	1652	57	3	1595	3	LRRK2	12	40653408	Splice_Site	SNP	T	TCGA-BR-8487-01A-11D-2394-08	7787175	40653408	93198487	2230	61363											
LRRK2	120892	broad.mit.edu	37	chr12	40699624	40699624	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgtcttgaaaatctgacatCtctggatgtcagttacaact	7	9	4	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:40699624C>T	uc001rmg.3	+	28	3936	c.3815C>T	c.(3814-3816)TCT>TTT	p.S1272F	LRRK2_uc009zjw.2_Missense_Mutation_p.S110F|LRRK2_uc001rmi.2_Missense_Mutation_p.S105F	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1272	LRR 12.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AATCTGACATCTCTGGATGTC	0.398													T	40699624	C	T	40699624	3	4	94	1	0	0	0	0	1	0	0	0	9033	913	32	4	3925	4	LRRK2	12	40699624	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	46216	40699624	93152271	2231	61364											
CNTN1	1272	broad.mit.edu	37	chr12	41312552	41312552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcaactgtagggcacgagCcagccctttcccggtttaca	9	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:41312552C>T	uc001rmm.1	+	4	319	c.206C>T	c.(205-207)GCC>GTC	p.A69V	CNTN1_uc009zjy.1_Missense_Mutation_p.A69V|CNTN1_uc001rmn.1_Missense_Mutation_p.A58V|CNTN1_uc001rmo.2_Missense_Mutation_p.A69V	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	69	Ig-like C2-type 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGGGCACGAGCCAGCCCTTTC	0.433													T	41312552	C	T	41312552	3	4	94	1	0	0	0	0	1	0	0	0	3640	739	26	2	216	2	CNTN1	12	41312552	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	612928	41312552	92539343	2232	61365											
PRICKLE1	144165	broad.mit.edu	37	chr12	42853839	42853839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaggaatcatcatcctcGccgtagagtcccagaaaccg	8	15	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:42853839G>A	uc010skv.1	-	8	2555	c.2268C>T	c.(2266-2268)GGC>GGT	p.G756G	PRICKLE1_uc001rnl.2_Silent_p.G756G|PRICKLE1_uc010skw.1_Silent_p.G756G|PRICKLE1_uc001rnm.2_Silent_p.G756G|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	756					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CATCATCCTCGCCGTAGAGTC	0.517													A	42853839	G	A	42853839	2	1	94	1	0	0	0	0	0	0	0	1	12486	1074	38	1		1	PRICKLE1	12	42853839	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1541287	42853839	90998056	2233	61366											
NELL2	4753	broad.mit.edu	37	chr12	44915860	44915860	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccccattttgatggaggcActgactactaagccttgggt	10	10	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:44915860A>G	uc001rog.2	-	18	2693	c.2098T>C	c.(2098-2100)TGC>CGC	p.C700R	NELL2_uc001rof.3_Missense_Mutation_p.C699R|NELL2_uc001roh.2_Missense_Mutation_p.C700R|NELL2_uc009zkd.2_Missense_Mutation_p.C652R|NELL2_uc010skz.1_Missense_Mutation_p.C750R|NELL2_uc010sla.1_Missense_Mutation_p.C723R	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	700	VWFC 4.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGATGGAGGCACTGACTACTA	0.463													G	44915860	A	G	44915860	3	3	94	1	0	0	0	0	1	0	0	0	10334	159	6	3	364	3	NELL2	12	44915860	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	2062021	44915860	88936035	2234	61367											
SFRS2IP	9169	broad.mit.edu	37	chr12	46321969	46321969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatctcactttccaaacaCaaaacattagcctctatacc	2	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:46321969C>T	uc001rox.2	-	11	1802	c.1515G>A	c.(1513-1515)TTG>TTA	p.L505L	SFRS2IP_uc001row.2_Silent_p.L190L|SFRS2IP_uc001roy.1_Silent_p.L579L	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	505					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		TTTCCAAACACAAAACATTAG	0.388													T	46321969	C	T	46321969	2	4	94	1	0	0	0	0	0	0	0	1	14177	477	17	4		4	SFRS2IP	12	46321969	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1406109	46321969	87529926	2235	61368											
CCNT1	904	broad.mit.edu	37	chr12	49089559	49089559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccctccaattccaaatgcGtttgagcctgttgggagttt	9	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:49089559G>A	uc001rse.1	-	8	1083	c.760C>T	c.(760-762)CGC>TGC	p.R254C	CCNT1_uc009zkz.1_Translation_Start_Site	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	254	Nuclear localization signal, and interaction with Tat-TAR RNA (Potential).				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			ovary(3)|lung(1)|breast(1)|skin(1)	6						TTCCAAATGCGTTTGAGCCTG	0.368													A	49089559	G	A	49089559	3	1	94	1	0	0	0	0	1	0	0	0	2934	1145	40	1	1428	1	CCNT1	12	49089559	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2767590	49089559	84762336	2236	61369											
MLL2	8085	broad.mit.edu	37	chr12	49416123	49416123	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgtttattcggaacatgTagatgcctcgattctagaaa	8	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:49416123T>C	uc001rta.3	-	52	16352	c.16352A>G	c.(16351-16353)TAC>TGC	p.Y5451C		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5451	SET.	S-adenosyl-L-methionine (By similarity).			chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TCGGAACATGTAGATGCCTCG	0.517			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			C	49416123	T	C	49416123	3	2	94	1	0	0	0	0	1	0	0	0	9621	1638	57	3	273	3	MLL2	12	49416123	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	326564	49416123	84435772	2237	61370											
MLL2	8085	broad.mit.edu	37	chr12	49420024	49420024	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcgatgactttgattAcaaactccggccgcccgttg	9	14	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:49420024A>G	uc001rta.3	-	48	15725	c.15725T>C	c.(15724-15726)GTA>GCA	p.V5242A		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5242	FYR C-terminal.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GACTTTGATTACAAACTCCGG	0.562			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			G	49420024	A	G	49420024	3	3	94	1	0	0	0	0	1	0	0	0	9621	391	14	3	916	3	MLL2	12	49420024	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	3901	49420024	84431871	2238	61371											
MLL2	8085	broad.mit.edu	37	chr12	49434492	49434492	+	Frame_Shift_Del	DEL	G	G	-													aaggtgccaaagcctgggcaGggggtggctcctggggcctt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:49434491_49434491AG>A	uc001rta.4	-	30	7062	c.7062_7062CT>T	c.(7060-7062)cctfs	p.P2354fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2354	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AAGCCTGGGCAGGGGGTGGCT	0.627			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	49434492	G	-	49434492	7	5	94	1	0	1	0	1	0	0	0	0	9621	1000	35	0	9648	0	MLL2	12	49434492	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	14468	49434492	84417403	2239	61372											
KCNH3	23416	broad.mit.edu	37	chr12	49933274	49933274	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacgcgcttcgacggcacGcgtgagtccgaccctcgccc	12	18	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:49933274G>A	uc001ruh.1	+	1	335	c.75G>A	c.(73-75)ACG>ACA	p.T25T	KCNH3_uc010smj.1_5'UTR	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	25	Cytoplasmic (Potential).|PAS.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						TCGACGGCACGCGTGAGTCCG	0.741													A	49933274	G	A	49933274	2	1	94	1	0	0	0	0	0	0	0	1	8033	1101	38	1		1	KCNH3	12	49933274	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	498782	49933274	83918621	2240	61373											
MCRS1	10445	broad.mit.edu	37	chr12	49953005	49953005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggggataccttgtttcCgggatatcttccaggccgga	15	9	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:49953005C>T	uc001ruk.1	-	13	1357	c.1166G>A	c.(1165-1167)CGG>CAG	p.R389Q	MCRS1_uc001rui.1_Missense_Mutation_p.R402Q|MCRS1_uc001ruj.1_Missense_Mutation_p.R376Q|MCRS1_uc001rul.1_Missense_Mutation_p.R389Q|MCRS1_uc009zlj.1_Missense_Mutation_p.R198Q|MCRS1_uc001rum.1_Missense_Mutation_p.R376Q	NM_006337	NP_006328	Q96EZ8	MCRS1_HUMAN	microspherule protein 1 isoform 1	389	FHA.				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			large_intestine(1)	1						ACCTTGTTTCCGGGATATCTT	0.597													T	49953005	C	T	49953005	3	4	94	1	0	0	0	0	1	0	0	0	9399	652	23	1	234	1	MCRS1	12	49953005	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	19731	49953005	83898890	2241	61374											
FAM186B	84070	broad.mit.edu	37	chr12	49994809	49994809	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccgaggccttcgtgttcAtggtatgctggtcctggagc	13	12	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:49994809A>G	uc001ruo.2	-	4	787	c.614T>C	c.(613-615)ATG>ACG	p.M205T	FAM186B_uc010smk.1_Missense_Mutation_p.M115T	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	hypothetical protein LOC84070	205						protein complex				ovary(1)	1						CTTCGTGTTCATGGTATGCTG	0.592													G	49994809	A	G	49994809	3	3	94	1	0	0	0	0	1	0	0	0	5512	217	8	3	2083	3	FAM186B	12	49994809	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	41804	49994809	83857086	2242	61375											
DIP2B	57609	broad.mit.edu	37	chr12	51122352	51122352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccactctgcagtgaacGctctgtgtcgagccatcaag	10	13	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:51122352G>A	uc001rwv.2	+	30	3688	c.3532G>A	c.(3532-3534)GCT>ACT	p.A1178T	DIP2B_uc009zlt.2_Missense_Mutation_p.A608T	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	1178						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						TGCAGTGAACGCTCTGTGTCG	0.532													A	51122352	G	A	51122352	3	1	94	1	0	0	0	0	1	0	0	0	4528	1087	38	1	3650	1	DIP2B	12	51122352	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1127543	51122352	82729543	2243	61376											
SCN8A	6334	broad.mit.edu	37	chr12	52100214	52100214	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttctttcctaggctgctgcGatggccacttcagcaggaac	10	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:52100214G>A	uc001ryw.2	+	11	1528	c.1350G>A	c.(1348-1350)GCG>GCA	p.A450A	SCN8A_uc010snl.1_Silent_p.A315A|SCN8A_uc001ryx.1_Silent_p.A315A|SCN8A_uc001ryz.1_Silent_p.A315A|SCN8A_uc001ryy.2_Silent_p.A315A	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	450					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGGCTGCTGCGATGGCCACTT	0.522													A	52100214	G	A	52100214	2	1	94	1	0	0	0	0	0	0	0	1	13924	1045	37	1		1	SCN8A	12	52100214	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	977862	52100214	81751681	2244	61377											
SCN8A	6334	broad.mit.edu	37	chr12	52115620	52115620	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgaagcgcaacagcacGgtggactgcaacggcgtggt	16	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:52115620G>A	uc001ryw.2	+	12	2104	c.1926G>A	c.(1924-1926)ACG>ACA	p.T642T	SCN8A_uc010snl.1_Silent_p.T507T|SCN8A_uc001ryx.1_Silent_p.T507T|SCN8A_uc001ryz.1_Silent_p.T507T|SCN8A_uc001ryy.2_Silent_p.T507T	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	642					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GCAACAGCACGGTGGACTGCA	0.587													A	52115620	G	A	52115620	2	1	94	1	0	0	0	0	0	0	0	1	13924	1103	39	1		1	SCN8A	12	52115620	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	15406	52115620	81736275	2245	61378											
KRT84	3890	broad.mit.edu	37	chr12	52776272	52776272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgagttagggtatccacGttggcctcgagatcagactt	11	10	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:52776272G>A	uc001sah.1	-	4	909	c.861C>T	c.(859-861)AAC>AAT	p.N287N		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	287	Rod.|Coil 1B.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGTATCCACGTTGGCCTCGA	0.463													A	52776272	G	A	52776272	2	1	94	1	0	0	0	0	0	0	0	1	8498	1136	40	1		1	KRT84	12	52776272	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	660652	52776272	81075623	2246	61379											
KRT75	9119	broad.mit.edu	37	chr12	52818457	52818457	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtggtgaaggagtagccGctgcccccaccgaggcccag	15	14	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:52818457G>A	uc001saj.2	-	9	1522	c.1500C>T	c.(1498-1500)AGC>AGT	p.S500S		NM_004693	NP_004684	O95678	K2C75_HUMAN	keratin 75	500	Tail.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.192)		AGGAGTAGCCGCTGCCCCCAC	0.627													A	52818457	G	A	52818457	2	1	94	1	0	0	0	0	0	0	0	1	8488	1078	38	1		1	KRT75	12	52818457	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	42185	52818457	81033438	2247	61380											
KRT5	3852	broad.mit.edu	37	chr12	52911681	52911681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttagataagtttcttacCgcatcaaagaacatcttcat	4	8	4	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:52911681C>T	uc001san.2	-	4	1090	c.927G>A	c.(925-927)GCG>GCA	p.A309A	KRT5_uc009zmh.2_Silent_p.A309A	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	309	Rod.|Coil 1B.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGTTTCTTACCGCATCAAAGA	0.388													T	52911681	C	T	52911681	2	4	94	1	0	0	0	0	0	0	0	1	8479	666	23	1		1	KRT5	12	52911681	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	93224	52911681	80940214	2248	61381											
SPRYD3	84926	broad.mit.edu	37	chr12	53462055	53462055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccagccccacatccaCgatgcttttgcccttcccta	7	18	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:53462055C>T	uc001sbt.1	-	7	748	c.727G>A	c.(727-729)GTG>ATG	p.V243M	SPRYD3_uc010snw.1_Missense_Mutation_p.V69M	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	243										central_nervous_system(1)	1						CCCACATCCACGATGCTTTTG	0.627													T	53462055	C	T	53462055	3	4	94	1	0	0	0	0	1	0	0	0	15108	536	19	1	621	1	SPRYD3	12	53462055	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	550374	53462055	80389840	2249	61382											
AAAS	8086	broad.mit.edu	37	chr12	53702980	53702980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtagccaggattttgctgCcgtctggggaccagagcagg	16	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:53702980C>T	uc001scr.3	-	9	1059	c.896G>A	c.(895-897)GGC>GAC	p.G299D	AAAS_uc001scs.3_Missense_Mutation_p.G266D	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency,	299	WD 4.				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				ovary(1)	1						GATTTTGCTGCCGTCTGGGGA	0.582													T	53702980	C	T	53702980	3	4	94	1	0	0	0	0	1	0	0	0	8	739	26	2	776	2	AAAS	12	53702980	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	240925	53702980	80148915	2250	61383											
PCBP2	5094	broad.mit.edu	37	chr12	53849156	53849156	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcagtatcatcggaaaggTaagacaatttcacttcaact	8	8	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:53849156T>C	uc001sdl.3	+	3	443	c.93_splice	c.e3+2	p.K31_splice	PCBP2_uc001sdc.3_Splice_Site_p.K31_splice|PCBP2_uc001sdb.3_Splice_Site_p.K31_splice|PCBP2_uc001sde.3_Splice_Site_p.K31_splice|PCBP2_uc001sdi.3_Splice_Site_p.K31_splice|PCBP2_uc001sdd.3_Splice_Site_p.K31_splice|PCBP2_uc001sdf.3_Splice_Site_p.K31_splice|PCBP2_uc009zna.2_Splice_Site_p.K31_splice|PCBP2_uc010soh.1_Splice_Site_p.K31_splice|PCBP2_uc009zmz.1_Intron	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2 isoform d						innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding				0						ATCGGAAAGGTAAGACAATTT	0.343													C	53849156	T	C	53849156	5	2	94	1	0	0	0	0	0	0	1	0	11501	1652	57	3	101	3	PCBP2	12	53849156	Splice_Site	SNP	T	TCGA-BR-8487-01A-11D-2394-08	146176	53849156	80002739	2251	61384											
ATP5G2	517	broad.mit.edu	37	chr12	54070026	54070026	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatccggccggttgctccacCtggcgttcgagaggagaaac	13	12	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:54070026C>A	uc009znc.2	-	1	487	c.-214G>T	c.(-216--212)CAGGT>CATGT		ATP5G2_uc001sec.2_Translation_Start_Site|ATP5G2_uc001sed.2_Translation_Start_Site	NM_001002031	NP_001002031	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial F0						ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			ovary(1)	1						GTTGCTCCACCTGGCGTTCGA	0.602											OREG0021876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	54070026	C	A	54070026	1	1	94	1	0	0	0	0	0	0	0	0	1154	696	24	5		5	ATP5G2	12	54070026	Translation_Start_Site	SNP	C	TCGA-BR-8487-01A-11D-2394-08	220870	54070026	79781869	2252	61385											
GPR84	53831	broad.mit.edu	37	chr12	54757553	54757553	+	Frame_Shift_Del	DEL	A	A	-													tgcctgtcacagccaccaccAccccccagctaactgcaaca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:54757552_54757552CA>C	uc021qyp.1	-	0	84	c.84_84TG>G	c.(82-84)gtgfs	p.V28fs	GPR84_uc001sfu.3_Frame_Shift_Del_p.V28fs	NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	Homo sapiens G protein-coupled receptor 84 (GPR84), mRNA.	28						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V28G(1)		NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CAGCCACCACCACCCCCCAGC	0.567													-	54757553	A	-	54757553	7	5	94	1	0	1	0	1	0	0	0	0	6714	159	6	0	1111	0	GPR84	12	54757553	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	687527	54757553	79094342	2253	61386											
NCKAP1L	3071	broad.mit.edu	37	chr12	54913106	54913106	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtggaaacttctgatctgTctactttctggtatgtcttg	10	7	5	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:54913106T>C	uc001sgc.3	+	16	1694	c.1615T>C	c.(1615-1617)TCT>CCT	p.S539P	NCKAP1L_uc010sox.1_Missense_Mutation_p.S81P|NCKAP1L_uc010soy.1_Missense_Mutation_p.S489P	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	539					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						TTCTGATCTGTCTACTTTCTG	0.388													C	54913106	T	C	54913106	3	2	94	1	0	0	0	0	1	0	0	0	10222	1667	58	3	1677	3	NCKAP1L	12	54913106	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	155553	54913106	78938789	2254	61387											
OR9K2	441639	broad.mit.edu	37	chr12	55524393	55524393	+	Frame_Shift_Del	DEL	T	T	-													gtgtgctgtatggtgctgtcTtttttatgtatctcactcct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:55524393delT	uc010spe.1	+	1	841	c.841delT	c.(841-843)TTTfs	p.F281fs		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K,	281	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2						TGGTGCTGTCTTTTTTATGTA	0.448													-	55524393	T	-	55524393	7	5	94	1	0	1	0	1	0	0	0	0	11254	1609	56	0	843	0	OR9K2	12	55524393	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	611287	55524393	78327502	2255	61388											
OR6C74	254783	broad.mit.edu	37	chr12	55641456	55641456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccatctgcaaacccctgCattacaccaccatcatgagc	6	16	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:55641456C>T	uc010spg.1	+	1	385	c.385C>T	c.(385-387)CAT>TAT	p.H129Y		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						CAAACCCCTGCATTACACCAC	0.488													T	55641456	C	T	55641456	3	4	94	1	0	0	0	0	1	0	0	0	11198	710	25	2	387	2	OR6C74	12	55641456	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	117063	55641456	78210439	2256	61389											
OR6C74	254783	broad.mit.edu	37	chr12	55641521	55641521	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcttcatggatggctggCttcctaataatttttccgcc	8	10	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:55641521C>T	uc010spg.1	+	1	450	c.450C>T	c.(448-450)GGC>GGT	p.G150G		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	150	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						GGATGGCTGGCTTCCTAATAA	0.483													T	55641521	C	T	55641521	2	4	94	1	0	0	0	0	0	0	0	1	11198	784	28	2		2	OR6C74	12	55641521	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	65	55641521	78210374	2257	61390											
ITGA7	3679	broad.mit.edu	37	chr12	56101281	56101281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctctggggtcggggctgCaactgccggtgcagggccac	17	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:56101281C>T	uc001shh.2	-	1	406	c.186G>A	c.(184-186)TTG>TTA	p.L62L	ITGA7_uc001shg.2_Silent_p.L62L|ITGA7_uc010sps.1_Intron	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	62	FG-GAP 1.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						GTCGGGGCTGCAACTGCCGGT	0.667													T	56101281	C	T	56101281	2	4	94	1	0	0	0	0	0	0	0	1	7881	709	25	2		2	ITGA7	12	56101281	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	459760	56101281	77750614	2258	61391											
IKZF4	64375	broad.mit.edu	37	chr12	56418877	56418877	+	Frame_Shift_Del	DEL	C	C	-													ggagaaggagttcctcggggCcccagtggggccctcggtga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:56418877delC	uc001sjb.1	+	4	380	c.221delC	c.(220-222)GCCfs	p.A74fs	IKZF4_uc010sqa.1_Frame_Shift_Del_p.A27fs|IKZF4_uc001sjc.1_Frame_Shift_Del_p.A74fs|IKZF4_uc001sjd.1_5'UTR|IKZF4_uc009zoi.1_Frame_Shift_Del_p.A29fs|IKZF4_uc001sje.1_Frame_Shift_Del_p.A33fs	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	zinc finger protein, subfamily 1A, 4	74					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTCCTCGGGGCCCCAGTGGGG	0.587													-	56418877	C	-	56418877	7	5	94	1	0	1	0	1	0	0	0	0	7617	739	26	0	231	0	IKZF4	12	56418877	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	317596	56418877	77433018	2259	61392											
SMARCC2	6601	broad.mit.edu	37	chr12	56565655	56565655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaaaatgcaagatgcactCgtcctgtgtgcggcttccca	10	11	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:56565655C>T	uc001skb.2	-	20	2006	c.1900G>A	c.(1900-1902)GAG>AAG	p.E634K	SMARCC2_uc001skd.2_Missense_Mutation_p.E665K|SMARCC2_uc001ska.2_Missense_Mutation_p.E665K|SMARCC2_uc001skc.2_Missense_Mutation_p.E664K|SMARCC2_uc010sqf.1_Missense_Mutation_p.E554K	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	634	SANT.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AAGATGCACTCGTCCTGTGTG	0.542													T	56565655	C	T	56565655	3	4	94	1	0	0	0	0	1	0	0	0	14776	893	31	1	1780	1	SMARCC2	12	56565655	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	146778	56565655	77286240	2260	61393											
TIMELESS	8914	broad.mit.edu	37	chr12	56817451	56817451	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctcctcctcctcctcTtcttcttcctctgccccacg	2	22	5	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:56817451T>C	uc001slf.2	-	17	2175	c.2007A>G	c.(2005-2007)GAA>GAG	p.E669E		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	669	Glu-rich.				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						cctcctcctcttcttcttcct	0.418													C	56817451	T	C	56817451	2	2	94	1	0	0	0	0	0	0	0	1	15901	1606	56	3		3	TIMELESS	12	56817451	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	251796	56817451	77034444	2261	61394											
LRP1	4035	broad.mit.edu	37	chr12	57537507	57537507	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggctgccagcaccattgtgTccccacactcgatgggccca	11	16	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:57537507T>C	uc001snd.2	+	4	840	c.374T>C	c.(373-375)GTC>GCC	p.V125A	LRP1_uc010sre.1_Missense_Mutation_p.V125A|LRP1_uc001snb.2_Missense_Mutation_p.V125A|LRP1_uc001snc.1_Missense_Mutation_p.V125A	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	125	EGF-like 1.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACCATTGTGTCCCCACACTC	0.592													C	57537507	T	C	57537507	3	2	94	1	0	0	0	0	1	0	0	0	8951	1667	58	3	388	3	LRP1	12	57537507	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	720056	57537507	76314388	2262	61395											
LRP1	4035	broad.mit.edu	37	chr12	57539115	57539115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcacacctacgagcacgcGgcagaccacagccatggact	9	16	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:57539115G>A	uc001snd.2	+	6	1149	c.683G>A	c.(682-684)CGG>CAG	p.R228Q	LRP1_uc010sre.1_Missense_Mutation_p.R228Q|LRP1_uc001snb.2_Missense_Mutation_p.R228Q|LRP1_uc001snc.1_Missense_Mutation_p.R228Q	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	228	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACGAGCACGCGGCAGACCACA	0.597													A	57539115	G	A	57539115	3	1	94	1	0	0	0	0	1	0	0	0	8951	1116	39	1	705	1	LRP1	12	57539115	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1608	57539115	76312780	2263	61396											
MBD6	114785	broad.mit.edu	37	chr12	57919294	57919295	+	Frame_Shift_Ins	INS	-	-	G													ttcccactctagcaggccctINSggggggcttttccccccaag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:57919294_57919295insG	uc001soj.1	+	6	767_768	c.543_544insG	c.(541-546)CCTGGGfs	p.P181fs	MBD6_uc001sok.1_Frame_Shift_Ins_p.P48fs|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	181_182	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						TAGCAGGCCCTGGGGGGCTTTT	0.639													G	57919295	-	G	57919294	7	5	94	1	0	1	1	0	0	0	0	0	9348	1567	55	0	557	0	MBD6	12	57919294	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	380179	57919294	75932601	2264	61397	289	2									
MBD6	114785	broad.mit.edu	37	chr12	57919295	57919296	+	Frame_Shift_Ins	INS	-	-	G													tcccactctagcaggccctgINSgggggcttttccccccaagg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:57919294_57919295T>TG	uc001soj.1	+	5	767_768	c.543_544T>TG	c.(541-546)cctgggfs	p.P181fs	MBD6_uc001sok.1_Frame_Shift_Ins_p.P48fs|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	181	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TAGCAGGCCCTGGGGGGCTTTT	0.639													G	57919296	-	G	57919295	7	5	94	1	0	1	1	0	0	0	0	0	9348	1348	47	0	558	0	MBD6	12	57919295	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	57919295	75932600	2265	61398	289	2									
MBD6	114785	broad.mit.edu	37	chr12	57921401	57921401	+	Frame_Shift_Del	DEL	C	C	-													ccccctccaactcagggagaCccccccaactccttagccct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:57921400_57921400AC>A	uc001soj.1	+	7	2417	c.2193_2193AC>A	c.(2191-2193)agafs	p.R731fs	MBD6_uc001sok.1_Frame_Shift_Del_p.R598fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	731	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACTCAGGGAGACCCCCCCAAC	0.602													-	57921401	C	-	57921401	7	5	94	1	0	1	0	1	0	0	0	0	9348	507	18	0	2216	0	MBD6	12	57921401	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	2106	57921401	75930494	2266	61399											
AGAP2	116986	broad.mit.edu	37	chr12	58126703	58126703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagcgtttcatgtccgCgcacagagctctggcacgag	13	13	2	1	rs141167177		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:58126703C>T	uc001spq.2	-	6	1609	c.1609G>A	c.(1609-1611)GCG>ACG	p.A537T	AGAP2_uc001spp.2_Missense_Mutation_p.A537T|AGAP2_uc001spr.2_Missense_Mutation_p.A201T	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	537	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5						TTCATGTCCGCGCACAGAGCT	0.567													T	58126703	C	T	58126703	3	4	94	1	0	0	0	0	1	0	0	0	368	768	27	1	2025	1	AGAP2	12	58126703	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	205302	58126703	75725192	2267	61400											
MSRB3	253827	broad.mit.edu	37	chr12	65857048	65857048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggatagcagtggcaccgcCgagggaggcagtggggtcgc	20	10	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:65857048C>T	uc001ssn.2	+	6	586	c.525C>T	c.(523-525)GCC>GCT	p.A175A	MSRB3_uc001ssm.2_Silent_p.A168A|MSRB3_uc009zqp.2_Silent_p.A168A	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3 isoform 1	175					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GTGGCACCGCCGAGGGAGGCA	0.527													T	65857048	C	T	65857048	2	4	94	1	0	0	0	0	0	0	0	1	9889	639	23	1		1	MSRB3	12	65857048	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	7730345	65857048	67994847	2268	61401											
HELB	92797	broad.mit.edu	37	chr12	66731962	66731962	+	RNA	DEL	A	A	-													taacgtcaaagtaccaagatAaaaaaagtttcctataactg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:66731962delA	uc010ssz.1	+	13		c.3448delA			HELB_uc009zqt.1_RNA			Q8NG08	HELB_HUMAN	Homo sapiens helicase B mRNA, complete cds.						DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GTACCAAGATAAAAAAAGTTT	0.294													-	66731962	A	-	66731962	6	5	94	0	1	1	0	1	0	0	0	0	7045	377	13	0		0	HELB	12	66731962	RNA	DEL	A	TCGA-BR-8487-01A-11D-2394-08	874914	66731962	67119933	2269	61402											
MDM1	56890	broad.mit.edu	37	chr12	68696460	68696460	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcgagagggatgccagtAggatggaacatgtggtggag	18	5	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:68696460A>G	uc001stz.2	-	12	2048	c.1912T>C	c.(1912-1914)TAC>CAC	p.Y638H	MDM1_uc010stc.1_Missense_Mutation_p.Y603H|MDM1_uc009zqv.1_Missense_Mutation_p.Y358H	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	mouse Mdm1 nuclear protein homolog isoform 1	638						nucleus				ovary(3)|skin(2)	5			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GGATGCCAGTAGGATGGAACA	0.393													G	68696460	A	G	68696460	3	3	94	1	0	0	0	0	1	0	0	0	9412	420	15	3	244	3	MDM1	12	68696460	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1964498	68696460	65155435	2270	61403											
CPSF6	11052	broad.mit.edu	37	chr12	69653833	69653833	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttccctcacaggtgattatgGgagtgctattgagacactgg	12	8	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:69653833G>C	uc001sut.3	+	8	1435	c.1325G>C	c.(1324-1326)GGG>GCG	p.G442A	CPSF6_uc001suu.3_Missense_Mutation_p.G479A|CPSF6_uc010stk.1_Missense_Mutation_p.G73A	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6,	442					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GGTGATTATGGGAGTGCTATT	0.328													C	69653833	G	C	69653833	3	2	94	1	0	0	0	0	1	0	0	0	3829	1232	43	5	1355	5	CPSF6	12	69653833	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	957373	69653833	64198062	2271	61404											
BEST3	144453	broad.mit.edu	37	chr12	70066743	70066743	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggttgataagctgctctgcTacctgtagttgagaacataa	11	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:70066743T>C	uc001svg.2	-	8	1097	c.870A>G	c.(868-870)GTA>GTG	p.V290V	BEST3_uc001svd.1_Silent_p.V290V|BEST3_uc001sve.1_RNA|BEST3_uc001svf.2_Silent_p.V77V|BEST3_uc010stm.1_Silent_p.V184V|BEST3_uc001svh.2_Silent_p.V77V	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	290	Helical; (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GCTGCTCTGCTACCTGTAGTT	0.219													C	70066743	T	C	70066743	2	2	94	1	0	0	0	0	0	0	0	1	1406	1509	53	3		3	BEST3	12	70066743	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	412910	70066743	63785152	2272	61405											
LGR5	8549	broad.mit.edu	37	chr12	71898439	71898439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgctcccgaatcccctGcccagtctccgcttcctgga	8	19	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:71898439G>A	uc001swl.2	+	2	306	c.258G>A	c.(256-258)CTG>CTA	p.L86L	LGR5_uc001swm.2_Silent_p.L86L|LGR5_uc001swn.1_RNA	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	86	LRR 1.|Extracellular (Potential).					integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						CGAATCCCCTGCCCAGTCTCC	0.502													A	71898439	G	A	71898439	2	1	94	1	0	0	0	0	0	0	0	1	8757	1306	46	2		2	LGR5	12	71898439	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1831696	71898439	61953456	2273	61406											
LGR5	8549	broad.mit.edu	37	chr12	71977878	71977878	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggccttgaccatggcCgcagttcccctgctgggtgg	14	14	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:71977878C>T	uc001swl.2	+	18	2136	c.2088C>T	c.(2086-2088)GCC>GCT	p.A696A	LGR5_uc001swm.2_Silent_p.A672A|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	696	Helical; Name=4; (Potential).					integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						TGACCATGGCCGCAGTTCCCC	0.532													T	71977878	C	T	71977878	2	4	94	1	0	0	0	0	0	0	0	1	8757	639	23	1		1	LGR5	12	71977878	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	79439	71977878	61874017	2274	61407											
ZFC3H1	196441	broad.mit.edu	37	chr12	72013159	72013159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggatgcaataaatttccGcaaaaatggaagaagattat	9	4	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:72013159G>A	uc001swo.2	-	27	5439	c.5080C>T	c.(5080-5082)CGG>TGG	p.R1694W		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	1694					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						ATAAATTTCCGCAAAAATGGA	0.353													A	72013159	G	A	72013159	3	1	94	1	0	0	0	0	1	0	0	0	17630	1086	38	1	925	1	ZFC3H1	12	72013159	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	35281	72013159	61838736	2275	61408											
ZFC3H1	196441	broad.mit.edu	37	chr12	72038781	72038781	+	Frame_Shift_Del	DEL	T	T	-													tgctgttctttttgttgccaTtttttactggctgactgaag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:72038781delT	uc001swo.2	-	4	1514	c.1155delA	c.(1153-1155)AAAfs	p.K385fs		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	385	Potential.				RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						TTTGTTGCCATTTTTTACTGG	0.348													-	72038781	T	-	72038781	7	5	94	1	0	1	0	1	0	0	0	0	17630	1490	52	0	4942	0	ZFC3H1	12	72038781	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	25622	72038781	61813114	2276	61409											
CEP290	80184	broad.mit.edu	37	chr12	88505561	88505561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaattcttcatttcttccGgtaagctgatcaacttgggc	7	10	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:88505561G>A	uc001tar.2	-	21	2471	c.2127C>T	c.(2125-2127)ACC>ACT	p.T709T	CEP290_uc001tat.2_Silent_p.T502T|CEP290_uc009zsl.1_RNA	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	709	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						CATTTCTTCCGGTAAGCTGAT	0.358													A	88505561	G	A	88505561	2	1	94	1	0	0	0	0	0	0	0	1	3253	1103	39	1		1	CEP290	12	88505561	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	16466780	88505561	45346334	2277	61410											
DCN	1634	broad.mit.edu	37	chr12	91539866	91539866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgagttgaatggcagagCgcacgtagacacatctgaag	12	9	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:91539866C>T	uc001tbs.2	-	7	1143	c.1049G>A	c.(1048-1050)CGC>CAC	p.R350H	DCN_uc001tbo.2_Missense_Mutation_p.R241H|DCN_uc001tbp.2_Missense_Mutation_p.R203H|DCN_uc001tbq.2_Missense_Mutation_p.R163H|DCN_uc001tbr.2_3'UTR|DCN_uc001tbt.2_Missense_Mutation_p.R350H|DCN_uc001tbu.2_Missense_Mutation_p.R350H	NM_133503	NP_598010	P07585	PGS2_HUMAN	decorin isoform a preproprotein	350	LRR 12.				organ morphogenesis	extracellular space				central_nervous_system(2)|ovary(1)|lung(1)	4						AATGGCAGAGCGCACGTAGAC	0.408													T	91539866	C	T	91539866	3	4	94	1	0	0	0	0	1	0	0	0	4297	768	27	1	34	1	DCN	12	91539866	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3034305	91539866	42312029	2278	61411											
BTG1	694	broad.mit.edu	37	chr12	92539222	92539222	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtcgctcgctcgtgagCcccttggtgcggagaaactt	13	12	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:92539222C>T	uc001tby.3	-	1	452	c.90G>A	c.(88-90)GGG>GGA	p.G30G	BTG1_uc001tbv.1_5'Flank|BTG1_uc001tbw.1_5'Flank|BTG1_uc001tbx.1_5'Flank|BTG1_uc009zss.1_5'Flank|uc001tca.2_5'Flank	NM_001731	NP_001722	P62324	BTG1_HUMAN	B-cell translocation protein 1	30					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity				0		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				CGCTCGTGAGCCCCTTGGTGC	0.627			T	MYC	BCLL								T	92539222	C	T	92539222	2	4	94	1	0	0	0	0	0	0	0	1	1553	726	26	2		2	BTG1	12	92539222	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	999356	92539222	41312673	2279	61412											
TMCC3	57458	broad.mit.edu	37	chr12	94976202	94976202	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtctgcagtgagtttgAccttgtggaagtccaggatg	15	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:94976202A>G	uc001tdj.2	-	2	309	c.191T>C	c.(190-192)GTC>GCC	p.V64A	TMCC3_uc001tdi.2_Missense_Mutation_p.V33A	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	64						integral to membrane				ovary(1)|skin(1)	2						AGTGAGTTTGACCTTGTGGAA	0.488													G	94976202	A	G	94976202	3	3	94	1	0	0	0	0	1	0	0	0	15991	275	10	3	1254	3	TMCC3	12	94976202	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	2436980	94976202	38875693	2280	61413											
USP44	84101	broad.mit.edu	37	chr12	95918558	95918558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttggaggaaaaccttctaCgctttgctgtaacatcaaag	9	8	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:95918558C>T	uc001teg.2	-	4	1775	c.1631G>A	c.(1630-1632)CGT>CAT	p.R544H	USP44_uc001teh.2_Missense_Mutation_p.R544H|USP44_uc009zte.2_Missense_Mutation_p.R541H	NM_001042403	NP_001035862	Q9H0E7	UBP44_HUMAN	ubiquitin thiolesterase 44	544					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)|breast(1)|central_nervous_system(1)	3						AAACCTTCTACGCTTTGCTGT	0.368													T	95918558	C	T	95918558	3	4	94	1	0	0	0	0	1	0	0	0	17072	536	19	1	519	1	USP44	12	95918558	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	942356	95918558	37933337	2281	61414											
AMDHD1	144193	broad.mit.edu	37	chr12	96361564	96361564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatttaccagttcggaggCcatcatgaattaattgaata	8	6	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:96361564C>T	uc001tel.1	+	9	1330	c.1224C>T	c.(1222-1224)GGC>GGT	p.G408G	AMDHD1_uc009zth.1_Silent_p.G299G	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	408					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)	1						AGTTCGGAGGCCATCATGAAT	0.264													T	96361564	C	T	96361564	2	4	94	1	0	0	0	0	0	0	0	1	567	726	26	2		2	AMDHD1	12	96361564	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	443006	96361564	37490331	2282	61415											
LTA4H	4048	broad.mit.edu	37	chr12	96429215	96429215	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgtccggcgagtaaagtcgAcgctgcagcgcaggtgcagg	17	11	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:96429215A>C	uc001ten.1	-	1	151	c.83T>G	c.(82-84)GTC>GGC	p.V28G	LTA4H_uc010suy.1_Intron|LTA4H_uc010suz.1_Intron|LTA4H_uc010sva.1_RNA	NM_000895	NP_000886	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	28					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)	1						AGTAAAGTCGACGCTGCAGCG	0.642													C	96429215	A	C	96429215	3	2	94	1	0	0	0	0	1	0	0	0	9069	275	10	5	1828	5	LTA4H	12	96429215	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	67651	96429215	37422680	2283	61416											
ANKS1B	56899	broad.mit.edu	37	chr12	99638168	99638168	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcgttgttgattccaacatCtatggaactcattattttgt	6	7	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:99638168C>A	uc001tge.1	-	14	2788	c.2371G>T	c.(2371-2373)GAT>TAT	p.D791Y	ANKS1B_uc001tgf.1_Missense_Mutation_p.D371Y|ANKS1B_uc001tgk.2_Missense_Mutation_p.D88Y	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	791						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		ATTCCAACATCTATGGAACTC	0.299													A	99638168	C	A	99638168	3	1	94	1	0	0	0	0	1	0	0	0	689	913	32	5	1715	5	ANKS1B	12	99638168	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3208953	99638168	34213727	2284	61417											
ANO4	121601	broad.mit.edu	37	chr12	101433764	101433764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtaaaaactccattcgaaCccatggagcagaaaaccacc	6	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:101433764C>T	uc010svm.1	+	11	1501	c.929C>T	c.(928-930)ACC>ATC	p.T310I	ANO4_uc001thw.2_Missense_Mutation_p.T275I|ANO4_uc001thx.2_Missense_Mutation_p.T310I	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	310	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						TCCATTCGAACCCATGGAGCA	0.443										HNSCC(74;0.22)			T	101433764	C	T	101433764	3	4	94	1	0	0	0	0	1	0	0	0	699	507	18	4	858	4	ANO4	12	101433764	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1795596	101433764	32418131	2285	61418											
CHST11	50515	broad.mit.edu	37	chr12	105151236	105151236	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggacgatgtcaaattcgaGgagtttgtggcctatctcat	13	7	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:105151236G>T	uc001tkx.1	+	4	1005	c.714G>T	c.(712-714)GAG>GAT	p.E238D	CHST11_uc001tky.2_Missense_Mutation_p.E233D|uc001tkz.2_5'Flank	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	carbohydrate sulfotransferase 11	238	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity				0						TCAAATTCGAGGAGTTTGTGG	0.572													T	105151236	G	T	105151236	3	4	94	1	0	0	0	0	1	0	0	0	3399	991	35	5	724	5	CHST11	12	105151236	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3717472	105151236	28700659	2286	61419											
TCP11L2	255394	broad.mit.edu	37	chr12	106708177	106708177	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taacatttgatgaagtgatgGctacagcaaggaacttatca	9	6	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:106708177G>C	uc001tln.2	+	3	373	c.199G>C	c.(199-201)GCT>CCT	p.A67P	TCP11L2_uc001tll.2_Missense_Mutation_p.A67P|TCP11L2_uc001tlm.2_Missense_Mutation_p.A67P	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	67										ovary(3)	3						TGAAGTGATGGCTACAGCAAG	0.403													C	106708177	G	C	106708177	3	2	94	1	0	0	0	0	1	0	0	0	15712	1203	42	5	205	5	TCP11L2	12	106708177	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1556941	106708177	27143718	2287	61420											
BTBD11	121551	broad.mit.edu	37	chr12	107937778	107937778	+	Frame_Shift_Del	DEL	C	C	-													caagcaccacggcaatggcaCccccctgcaccacaagcagg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:107937778delC	uc001tmk.1	+	3	1873	c.1352delC	c.(1351-1353)ACCfs	p.T451fs	BTBD11_uc009zut.1_Frame_Shift_Del_p.T451fs|BTBD11_uc001tmj.2_Frame_Shift_Del_p.T451fs	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	451						integral to membrane	DNA binding			skin(2)|ovary(1)	3						GGCAATGGCACCCCCCTGCAC	0.582													-	107937778	C	-	107937778	7	5	94	1	0	1	0	1	0	0	0	0	1539	507	18	0	1362	0	BTBD11	12	107937778	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	1229601	107937778	25914117	2288	61421											
PWP1	11137	broad.mit.edu	37	chr12	108091273	108091273	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgtaggaaacatgaccCctgttattgaagtgtgggac	12	7	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:108091273C>A	uc001tmo.1	+	7	730	c.643C>A	c.(643-645)CCT>ACT	p.P215T	PWP1_uc001tmn.1_RNA|PWP1_uc009zuu.1_Missense_Mutation_p.P215T	NM_007062	NP_008993	Q13610	PWP1_HUMAN	periodic tryptophan protein 1	215	WD 1.				transcription, DNA-dependent	nucleus					0						AAACATGACCCCTGTTATTGA	0.348													A	108091273	C	A	108091273	3	1	94	1	0	0	0	0	1	0	0	0	12843	623	22	5	669	5	PWP1	12	108091273	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	153495	108091273	25760622	2289	61422											
ALKBH2	121642	broad.mit.edu	37	chr12	109527862	109527862	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccagtcaccccagagacgTgatcccggatgcgctctaga	11	14	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:109527862T>C	uc001tnx.2	-	3	824	c.431A>G	c.(430-432)CAC>CGC	p.H144R	ALKBH2_uc001tny.2_Missense_Mutation_p.H144R|ALKBH2_uc010sxj.1_Missense_Mutation_p.H144R|ALKBH2_uc009zvd.2_Intron|ALKBH2_uc010sxk.1_Intron	NM_001145374	NP_001138846	Q6NS38	ALKB2_HUMAN	AlkB homolog 2	144					DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)	CCCAGAGACGTGATCCCGGAT	0.527								Direct_reversal_of_damage					C	109527862	T	C	109527862	3	2	94	1	0	0	0	0	1	0	0	0	527	1696	59	3	362	3	ALKBH2	12	109527862	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1436589	109527862	24324033	2290	61423											
UBE3B	89910	broad.mit.edu	37	chr12	109940840	109940840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgccaggtctcctaaagcGtgcttttcaaaagtcggcat	9	11	2	0	rs141849006		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:109940840G>A	uc001top.2	+	14	1898	c.1295G>A	c.(1294-1296)CGT>CAT	p.R432H	UBE3B_uc001toq.2_Missense_Mutation_p.R432H|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.R432H	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	432					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						CTCCTAAAGCGTGCTTTTCAA	0.507													A	109940840	G	A	109940840	3	1	94	1	0	0	0	0	1	0	0	0	16877	1145	40	1	1341	1	UBE3B	12	109940840	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	412978	109940840	23911055	2291	61424											
C12orf34	84915	broad.mit.edu	37	chr12	110206268	110206268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccgcagccgccactgcCgcctccgtcatccccctgcc	8	24	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:110206268C>T	uc001tpd.1	+	3	1093	c.534C>T	c.(532-534)GCC>GCT	p.A178A	MGC14436_uc010sxs.1_Intron|MGC14436_uc001tpe.2_Intron|C12orf34_uc001tpf.1_Silent_p.A178A	NM_032829	NP_116218	Q5U5X8	CL034_HUMAN	hypothetical protein LOC84915	178	Pro-rich.									ovary(1)	1						CCGCCACTGCCGCCTCCGTCA	0.711													T	110206268	C	T	110206268	2	4	94	1	0	0	0	0	0	0	0	1	1681	639	23	1		1	C12orf34	12	110206268	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	265428	110206268	23645627	2292	61425											
ANKRD13A	88455	broad.mit.edu	37	chr12	110461861	110461861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttatcagaactaaatccGgattctggggctggaggaca	11	7	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:110461861G>A	uc001tpx.2	+	7	1004	c.745G>A	c.(745-747)GGA>AGA	p.G249R	ANKRD13A_uc009zvl.1_Intron|ANKRD13A_uc010sxw.1_Missense_Mutation_p.G249R|ANKRD13A_uc001tpy.2_5'Flank	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13	249											0						AACTAAATCCGGATTCTGGGG	0.348													A	110461861	G	A	110461861	3	1	94	1	0	0	0	0	1	0	0	0	641	1117	39	1	771	1	ANKRD13A	12	110461861	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	255593	110461861	23390034	2293	61426											
CUX2	23316	broad.mit.edu	37	chr12	111701597	111701597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaagagaagtcaggaggcGgaggctgcttttctgagtgt	16	5	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:111701597G>A	uc001tsa.1	+	4	408	c.255G>A	c.(253-255)GCG>GCA	p.A85A	CUX2_uc001tsb.1_Silent_p.A140A	NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	85						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						GTCAGGAGGCGGAGGCTGCTT	0.428													A	111701597	G	A	111701597	2	1	94	1	0	0	0	0	0	0	0	1	4065	1103	39	1		1	CUX2	12	111701597	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1239736	111701597	22150298	2294	61427											
CUX2	23316	broad.mit.edu	37	chr12	111731284	111731284	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtcgcctgccgggcccacGctgaccgagggaagccgcct	14	17	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:111731284G>A	uc001tsa.1	+	6	624	c.471G>A	c.(469-471)ACG>ACA	p.T157T	CUX2_uc001tsb.1_Silent_p.T212T	NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	157						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						CCGGGCCCACGCTGACCGAGG	0.562													A	111731284	G	A	111731284	2	1	94	1	0	0	0	0	0	0	0	1	4065	1074	38	1		1	CUX2	12	111731284	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	29687	111731284	22120611	2295	61428											
CUX2	23316	broad.mit.edu	37	chr12	111758570	111758570	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcatctgccagaggatcttCggggagaaggtgagtgcagg	18	7	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:111758570C>T	uc001tsa.1	+	17	2910	c.2757C>T	c.(2755-2757)TTC>TTT	p.F919F		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	919	CUT 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						AGAGGATCTTCGGGGAGAAGG	0.627													T	111758570	C	T	111758570	2	4	94	1	0	0	0	0	0	0	0	1	4065	883	31	1		1	CUX2	12	111758570	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	27286	111758570	22093325	2296	61429											
ATXN2	6311	broad.mit.edu	37	chr12	111924631	111924631	+	Splice_Site	DEL	A	A	-													gttgatttcctaacttgcctAaaaaaaatataaaggccagt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:111924630_111924630TA>T	uc001tsj.3	-	16	2883	c.2721_splice	c.e16-1	p.E907_splice	ATXN2_uc001tsh.3_Splice_Site_p.E642_splice|ATXN2_uc001tsi.3_Splice_Site_p.E618_splice|ATXN2_uc001tsk.3_Splice_Site	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	907					RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CTAACTTGCCTAAAAAAAATA	0.333													-	111924631	A	-	111924631	8	5	94	1	0	1	0	1	0	0	1	0	1211	377	13	0		0	ATXN2	12	111924631	Splice_Site	DEL	A	TCGA-BR-8487-01A-11D-2394-08	166061	111924631	21927264	2297	61430											
ACAD10	80724	broad.mit.edu	37	chr12	112182702	112182702	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtctggttatctctccagAgagcctctctccacctgtca	8	14	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:112182702A>G	uc001tsq.2	+	13	2170	c.1970A>G	c.(1969-1971)GAG>GGG	p.E657G	ACAD10_uc001tsp.2_Missense_Mutation_p.E657G|ACAD10_uc009zvx.2_Missense_Mutation_p.E688G|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	657							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						ATCTCTCCAGAGAGCCTCTCT	0.587													G	112182702	A	G	112182702	3	3	94	1	0	0	0	0	1	0	0	0	108	304	11	3	2113	3	ACAD10	12	112182702	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	258071	112182702	21669193	2298	61431											
NAA25	80018	broad.mit.edu	37	chr12	112499109	112499109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacacacaaatgttgctgCagagctctgatgtcagcagg	10	11	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:112499109C>T	uc001ttm.2	-	12	1253	c.1233G>A	c.(1231-1233)CTG>CTA	p.L411L	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Silent_p.L383L|NAA25_uc009zwa.1_Silent_p.L411L	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	411						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						AATGTTGCTGCAGAGCTCTGA	0.438													T	112499109	C	T	112499109	2	4	94	1	0	0	0	0	0	0	0	1	10121	697	25	2		2	NAA25	12	112499109	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	316407	112499109	21352786	2299	61432											
PTPN11	5781	broad.mit.edu	37	chr12	112926270	112926270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaattggccggacagggaCgttcattgtgattgatattc	13	6	1	2	rs121918457		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:112926270C>T	uc001ttx.2	+	12	1783	c.1403C>T	c.(1402-1404)ACG>ATG	p.T468M		NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	472	Tyrosine-protein phosphatase.		T -> M (in LEOPARD1).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392						CGGACAGGGACGTTCATTGTG	0.443			Mis		JMML|AML|MDS		Noonan Syndrome		Noonan_syndrome				T	112926270	C	T	112926270	3	4	94	1	0	0	0	0	1	0	0	0	12780	536	19	1	1449	1	PTPN11	12	112926270	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	427161	112926270	20925625	2300	61433											
DTX1	1840	broad.mit.edu	37	chr12	113534522	113534522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtccctgtccccccaggtGctgcggctgctcatcacggc	12	17	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:113534522G>A	uc001tuk.1	+	9	1977	c.1641G>A	c.(1639-1641)GTG>GTA	p.V547V		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	547					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						CCCCCCAGGTGCTGCGGCTGC	0.647													A	113534522	G	A	113534522	2	1	94	1	0	0	0	0	0	0	0	1	4793	1306	46	2		2	DTX1	12	113534522	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	608252	113534522	20317373	2301	61434											
RASAL1	8437	broad.mit.edu	37	chr12	113541993	113541993	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggtaggtggtgtgcagCgcccccgtgccgtcctgcgt	17	12	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:113541993C>T	uc001tum.1	-	18	2231	c.1938G>A	c.(1936-1938)GCG>GCA	p.A646A	RASAL1_uc010syp.1_Silent_p.A647A|RASAL1_uc001tul.2_Silent_p.A618A|RASAL1_uc001tun.1_Silent_p.A648A|RASAL1_uc010syq.1_Silent_p.A647A|RASAL1_uc001tuo.3_Silent_p.A647A	NM_004658	NP_004649	O95294	RASL1_HUMAN	RAS protein activator like 1	646	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			ovary(2)|skin(2)	4						TGGTGTGCAGCGCCCCCGTGC	0.706													T	113541993	C	T	113541993	2	4	94	1	0	0	0	0	0	0	0	1	13063	755	27	1		1	RASAL1	12	113541993	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	7471	113541993	20309902	2302	61435											
RASAL1	8437	broad.mit.edu	37	chr12	113557016	113557016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggcacctggcatctcccGcagctccagcacttcatccc	9	19	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:113557016G>A	uc001tum.1	-	8	852	c.559C>T	c.(559-561)CGG>TGG	p.R187W	RASAL1_uc010syp.1_Missense_Mutation_p.R187W|RASAL1_uc001tul.2_Missense_Mutation_p.R187W|RASAL1_uc001tun.1_Missense_Mutation_p.R187W|RASAL1_uc010syq.1_Missense_Mutation_p.R187W|RASAL1_uc001tuo.3_Missense_Mutation_p.R187W|RASAL1_uc010syr.1_Missense_Mutation_p.R187W	NM_004658	NP_004649	O95294	RASL1_HUMAN	RAS protein activator like 1	187	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			ovary(2)|skin(2)	4						GGCATCTCCCGCAGCTCCAGC	0.607													A	113557016	G	A	113557016	3	1	94	1	0	0	0	0	1	0	0	0	13063	1086	38	1	1915	1	RASAL1	12	113557016	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	15023	113557016	20294879	2303	61436											
MED13L	23389	broad.mit.edu	37	chr12	116457653	116457653	+	Frame_Shift_Del	DEL	T	T	-													tcttcctctttcgattcttcTttcttttttagcaccatcgg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:116457653delT	uc001tvw.2	-	6	805	c.750delA	c.(748-750)AAAfs	p.K250fs		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	250					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCGATTCTTCTTTCTTTTTTA	0.418													-	116457653	T	-	116457653	7	5	94	1	0	1	0	1	0	0	0	0	9431	1606	56	0	5986	0	MED13L	12	116457653	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	2900637	116457653	17394242	2304	61437											
NOS1	4842	broad.mit.edu	37	chr12	117665430	117665430	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgccccatttccattccTcgtactcctgcaaaccctgt	4	17	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:117665430T>C	uc001twm.1	-	23	4108	c.3422A>G	c.(3421-3423)GAG>GGG	p.E1141G		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1141	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTTCCATTCCTCGTACTCCTG	0.582													C	117665430	T	C	117665430	3	2	94	1	0	0	0	0	1	0	0	0	10541	1551	54	3	910	3	NOS1	12	117665430	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1207777	117665430	16186465	2305	61438											
CIT	11113	broad.mit.edu	37	chr12	120159173	120159173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtcttcagtagatcagcccGatctagagcttcttgcagtc	9	11	5	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:120159173G>A	uc001txi.1	-	28	3600	c.3547C>T	c.(3547-3549)CGG>TGG	p.R1183W	CIT_uc001txh.1_Missense_Mutation_p.R717W|CIT_uc001txj.1_Missense_Mutation_p.R1225W	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1183	Potential.|Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AGATCAGCCCGATCTAGAGCT	0.473													A	120159173	G	A	120159173	3	1	94	1	0	0	0	0	1	0	0	0	3438	1057	37	1	2616	1	CIT	12	120159173	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2493743	120159173	13692722	2306	61439											
RPLP0	6175	broad.mit.edu	37	chr12	120635184	120635184	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggccaggactcgtttgtAcccgttgatgatagaatggg	13	8	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:120635184A>G	uc001txp.2	-	7	970	c.733T>C	c.(733-735)TAC>CAC	p.Y245H	GCN1L1_uc001txo.2_5'Flank|RPLP0_uc001txq.2_Missense_Mutation_p.Y245H|RPLP0_uc001txr.2_Missense_Mutation_p.Y183H	NM_053275	NP_444505	P05388	RLA0_HUMAN	ribosomal protein P0	245					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTCGTTTGTACCCGTTGATG	0.527													G	120635184	A	G	120635184	3	3	94	1	0	0	0	0	1	0	0	0	13604	391	14	3	228	3	RPLP0	12	120635184	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	476011	120635184	13216711	2307	61440											
KDM2B	84678	broad.mit.edu	37	chr12	121958832	121958832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccgcagctgcatgggcaCgttaaagctgtgcaggatgt	14	9	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:121958832C>T	uc001uat.2	-	9	1107	c.1003G>A	c.(1003-1005)GTG>ATG	p.V335M	KDM2B_uc001uas.2_Missense_Mutation_p.V304M|KDM2B_uc001uau.2_Missense_Mutation_p.V218M|KDM2B_uc001uav.3_Intron	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	335	JmjC.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						TGCATGGGCACGTTAAAGCTG	0.607													T	121958832	C	T	121958832	3	4	94	1	0	0	0	0	1	0	0	0	8125	536	19	1	3119	1	KDM2B	12	121958832	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1323648	121958832	11893063	2308	61441											
TMEM120B	144404	broad.mit.edu	37	chr12	122199614	122199614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactgcaccctgaccattcGggagagcattctcatcagca	8	13	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:122199614G>A	uc001ubc.3	+	6	665	c.521G>A	c.(520-522)CGG>CAG	p.R174Q	TMEM120B_uc009zxh.2_Missense_Mutation_p.R174Q	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN	transmembrane protein 120B	174	Helical; (Potential).					integral to membrane					0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CTGACCATTCGGGAGAGCATT	0.572													A	122199614	G	A	122199614	3	1	94	1	0	0	0	0	1	0	0	0	16031	1116	39	1	543	1	TMEM120B	12	122199614	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	240782	122199614	11652281	2309	61442											
RHOF	54509	broad.mit.edu	37	chr12	122217517	122217517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacattctcccgaaacttggCggaacattccaggtagagag	10	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:122217517C>T	uc001ubb.2	-	5	578	c.523G>A	c.(523-525)GCC>ACC	p.A175T	TMEM120B_uc001ubc.3_3'UTR|TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_RNA	NM_019034	NP_061907	Q9HBH0	RHOF_HUMAN	ras homolog gene family, member F precursor	175					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			ovary(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CGAAACTTGGCGGAACATTCC	0.642													T	122217517	C	T	122217517	3	4	94	1	0	0	0	0	1	0	0	0	13338	768	27	1	116	1	RHOF	12	122217517	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	17903	122217517	11634378	2310	61443											
LRRC43	254050	broad.mit.edu	37	chr12	122667782	122667782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggaccgtgagcgcggccGtgcgcgagcacttgcggaag	18	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:122667782G>A	uc009zxm.2	+	1	116	c.91G>A	c.(91-93)GTG>ATG	p.V31M	LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	31											0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GAGCGCGGCCGTGCGCGAGCA	0.756													A	122667782	G	A	122667782	3	1	94	1	0	0	0	0	1	0	0	0	9001	1145	40	1	93	1	LRRC43	12	122667782	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	450265	122667782	11184113	2311	61444											
LRRC43	254050	broad.mit.edu	37	chr12	122685346	122685346	+	Frame_Shift_Del	DEL	C	C	-													cccaaggagctccggcaggaCccccccatcctccaggtgct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:122685345_122685345AC>A	uc009zxm.3	+	9	1698	c.1673_1673AC>A	c.(1672-1674)gacfs	p.D558fs	LRRC43_uc001ubw.4_Frame_Shift_Del_p.D373fs|LRRC43_uc009zxn.3_Frame_Shift_Del_p.D319fs|B3GNT4_uc001ubx.3_5'Flank|B3GNT4_uc001uby.3_5'Flank	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	558										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCCGGCAGGACCCCCCCATC	0.667													-	122685346	C	-	122685346	7	5	94	1	0	1	0	1	0	0	0	0	9001	506	18	0	1712	0	LRRC43	12	122685346	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	17564	122685346	11166549	2312	61445											
B3GNT4	79369	broad.mit.edu	37	chr12	122691190	122691190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagtcacagcctggtcacgTggagcgacgtgcggctatcc	13	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:122691190T>C	uc001ubx.2	+	3	610	c.392T>C	c.(391-393)GTG>GCG	p.V131A	B3GNT4_uc001uby.2_Missense_Mutation_p.V106A	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal	131	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CCTGGTCACGTGGAGCGACGT	0.607													C	122691190	T	C	122691190	3	2	94	1	0	0	0	0	1	0	0	0	1259	1696	59	3	398	3	B3GNT4	12	122691190	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	5844	122691190	11160705	2313	61446											
ARL6IP4	51329	broad.mit.edu	37	chr12	123467067	123467068	+	Frame_Shift_Del	DEL	AC	AC	-													gaaatcgtaaccaaagaacgAcacagagagatcaacaaggt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:123467067_123467068delAC	uc001ued.2	+	5	1063_1064	c.1008_1009delAC	c.(1006-1011)CGACACfs	p.R336fs	ARL6IP4_uc001uec.2_Frame_Shift_Del_p.R328fs|ARL6IP4_uc001uee.2_Frame_Shift_Del_p.R317fs|ARL6IP4_uc001uef.2_Frame_Shift_Del_p.R317fs|ARL6IP4_uc001ueg.2_RNA|ARL6IP4_uc009zxt.2_Frame_Shift_Del_p.R202fs|ARL6IP4_uc001ueh.2_Frame_Shift_Del_p.R194fs|ARL6IP4_uc001uei.2_Frame_Shift_Del_p.R157fs	NM_018694	NP_061164	Q66PJ3	AR6P4_HUMAN	SRp25 nuclear protein isoform 1	336_337					RNA splicing	nucleus					0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)		ccaaagaaCGACACAGAGAGAT	0.361													-	123467068	AC	-	123467067	7	5	94	1	0	1	0	1	0	0	0	0	943	262	10	0	1026	0	ARL6IP4	12	123467067	Frame_Shift_Del	DEL	AC	TCGA-BR-8487-01A-11D-2394-08	775877	123467067	10384828	2314	61447											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123694679	123694679	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caggcaaagagtggtgcataTccttttcctctagtttccag	9	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:123694679T>A	uc001uel.2	-	4	769	c.662A>T	c.(661-663)GAT>GTT	p.D221V	MPHOSPH9_uc010tal.1_5'UTR|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_5'UTR	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	221					M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GTGGTGCATATCCTTTTCCTC	0.353													A	123694679	T	A	123694679	3	1	94	1	0	0	0	0	1	0	0	0	9728	1435	50	5	2501	5	MPHOSPH9	12	123694679	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	227612	123694679	10157216	2315	61448											
EIF2B1	1967	broad.mit.edu	37	chr12	124111624	124111624	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgactctgtgacgtatAcactaaatcgcttcttggcc	9	11	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:124111624A>G	uc001ufm.2	-	5	592	c.449T>C	c.(448-450)GTA>GCA	p.V150A	EIF2B1_uc001ufn.2_Missense_Mutation_p.V150A|EIF2B1_uc010tat.1_Missense_Mutation_p.V150A	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B,	150					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TGTGACGTATACACTAAATCG	0.493													G	124111624	A	G	124111624	3	3	94	1	0	0	0	0	1	0	0	0	5000	391	14	3	488	3	EIF2B1	12	124111624	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	416945	124111624	9740271	2316	61449											
DNAH10	196385	broad.mit.edu	37	chr12	124305130	124305130	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtatttatttactaggagTagagcttttaggtgtttatg	11	2	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:124305130T>C	uc001uft.3	+	23	3675	c.3650T>C	c.(3649-3651)GTA>GCA	p.V1217A		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1217	Stem (By similarity).|Potential.				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTACTAGGAGTAGAGCTTTTA	0.333													C	124305130	T	C	124305130	3	2	94	1	0	0	0	0	1	0	0	0	4598	1638	57	3	3740	3	DNAH10	12	124305130	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	193506	124305130	9546765	2317	61450											
CCDC92	80212	broad.mit.edu	37	chr12	124421800	124421800	+	Frame_Shift_Del	DEL	G	G	-													ccgcttcggtcggaggcgatGggggggatgacgaggggcct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:124421799_124421799TG>T	uc001ufw.1	-	4	949	c.802_802CA>A	c.(802-804)atcfs	p.I268fs	CCDC92_uc001ufv.1_Frame_Shift_Del_p.I251fs|CCDC92_uc001ufx.1_Frame_Shift_Del_p.I268fs	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA.	268										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TCGGAGGCGATGGGGGGGATG	0.682													-	124421800	G	-	124421800	7	5	94	1	0	1	0	1	0	0	0	0	2871	1335	47	0	198	0	CCDC92	12	124421800	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	116670	124421800	9430095	2318	61451											
CCDC92	80212	broad.mit.edu	37	chr12	124422299	124422299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaacaactcagcatttTcgttctctttcactttcagt	3	12	5	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:124422299T>C	uc001ufw.1	-	5	449	c.302A>G	c.(301-303)GAA>GGA	p.E101G	CCDC92_uc001ufv.1_Missense_Mutation_p.E84G|CCDC92_uc001ufx.1_Missense_Mutation_p.E101G|CCDC92_uc001ufy.1_Missense_Mutation_p.E84G	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	101	Potential.										0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CTCAGCATTTTCGTTCTCTTT	0.453													C	124422299	T	C	124422299	3	2	94	1	0	0	0	0	1	0	0	0	2871	1783	62	3	697	3	CCDC92	12	124422299	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	499	124422299	9429596	2319	61452											
NCOR2	9612	broad.mit.edu	37	chr12	124821387	124821387	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggccgaggcaggtggcgcCggcgggtccgggctggcgtg	23	11	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:124821387C>T	uc010tay.1	-	40	6213	c.6057G>A	c.(6055-6057)CCG>CCA	p.P2019P	NCOR2_uc010taz.1_Silent_p.P2003P|NCOR2_uc010tax.1_Silent_p.P130P	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	2020					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CAGGTGGCGCCGGCGGGTCCG	0.667													T	124821387	C	T	124821387	2	4	94	1	0	0	0	0	0	0	0	1	10236	639	23	1		1	NCOR2	12	124821387	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	399088	124821387	9030508	2320	61453											
AACS	65985	broad.mit.edu	37	chr12	125613957	125613957	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccacacacttctggaaCgatgagaacggcaacaagta	9	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:125613957C>T	uc001uhc.2	+	14	1706	c.1500C>T	c.(1498-1500)AAC>AAT	p.N500N	AACS_uc001uhd.2_Silent_p.N500N|AACS_uc009zyh.2_Intron|AACS_uc009zyi.2_Silent_p.N98N	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	500					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ACTTCTGGAACGATGAGAACG	0.547													T	125613957	C	T	125613957	2	4	94	1	0	0	0	0	0	0	0	1	9	535	19	1		1	AACS	12	125613957	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	792570	125613957	8237938	2321	61454											
FZD10	11211	broad.mit.edu	37	chr12	130647923	130647923	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaagaacgaccccaactacCtgtgcatggaggcgcccaac	9	15	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:130647923C>A	uc001uii.2	+	1	892	c.436C>A	c.(436-438)CTG>ATG	p.L146M	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	146	FZ.|Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCCCAACTACCTGTGCATGGA	0.672													A	130647923	C	A	130647923	3	1	94	1	0	0	0	0	1	0	0	0	6129	680	24	5	438	5	FZD10	12	130647923	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	5033966	130647923	3203972	2322	61455											
FZD10	11211	broad.mit.edu	37	chr12	130648780	130648780	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtgatgaagacgggcggCgagaacacggacaagctgga	18	7	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:130648780C>T	uc001uii.2	+	1	1749	c.1293C>T	c.(1291-1293)GGC>GGT	p.G431G	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	431	Cytoplasmic (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		AGACGGGCGGCGAGAACACGG	0.602													T	130648780	C	T	130648780	2	4	94	1	0	0	0	0	0	0	0	1	6129	755	27	1		1	FZD10	12	130648780	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	857	130648780	3203115	2323	61456											
RIMBP2	23504	broad.mit.edu	37	chr12	130935800	130935800	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaggtgggcttggcggaCagaggctccggcctgtcacc	17	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:130935800C>T	uc001uil.2	-	5	557	c.393G>A	c.(391-393)CTG>CTA	p.L131L	RIMBP2_uc001uim.2_Silent_p.L39L	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	131						cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCTTGGCGGACAGAGGCTCCG	0.637													T	130935800	C	T	130935800	2	4	94	1	0	0	0	0	0	0	0	1	13363	465	17	4		4	RIMBP2	12	130935800	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	287020	130935800	2916095	2324	61457											
GPR133	283383	broad.mit.edu	37	chr12	131466489	131466489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctagaccaatcccttctgCgtatgggggacaggtcatct	11	11	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:131466489C>T	uc001uit.3	+	5	930	c.371C>T	c.(370-372)GCG>GTG	p.A124V	GPR133_uc010tbm.1_Missense_Mutation_p.A156V	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	124	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A124A(1)		pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ATCCCTTCTGCGTATGGGGGA	0.507													T	131466489	C	T	131466489	3	4	94	1	0	0	0	0	1	0	0	0	6643	768	27	1	389	1	GPR133	12	131466489	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	530689	131466489	2385406	2325	61458											
SFRS8	6433	broad.mit.edu	37	chr12	132210036	132210036	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtttgagatcatgctgaaGgccaagcaggcccggaactc	12	11	1	2	rs151189391		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:132210036G>T	uc001uja.1	+	5	833	c.693G>T	c.(691-693)AAG>AAT	p.K231N	SFRS8_uc010tbn.1_Missense_Mutation_p.K231N|SFRS8_uc001ujb.1_Missense_Mutation_p.K24N|SFRS8_uc001uiz.1_Missense_Mutation_p.K105N	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	231	SURP motif 1.				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		TCATGCTGAAGGCCAAGCAGG	0.547													T	132210036	G	T	132210036	3	4	94	1	0	0	0	0	1	0	0	0	14183	991	35	5	711	5	SFRS8	12	132210036	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	743547	132210036	1641859	2326	61459											
EP400	57634	broad.mit.edu	37	chr12	132504598	132504598	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaatgggcatctaggttgTttcagcctgtgcagtatggc	12	9	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:132504598T>C	uc001ujn.2	+	21	4317	c.4282T>C	c.(4282-4284)TTT>CTT	p.F1428L	EP400_uc001ujl.2_Missense_Mutation_p.F1427L|EP400_uc001ujm.2_Missense_Mutation_p.F1428L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1464					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ATCTAGGTTGTTTCAGCCTGT	0.637													C	132504598	T	C	132504598	3	2	94	1	0	0	0	0	1	0	0	0	5149	1725	60	3	4361	3	EP400	12	132504598	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	294562	132504598	1347297	2327	61460											
DDX51	317781	broad.mit.edu	37	chr12	132624668	132624669	+	Frame_Shift_Ins	INS	-	-	G													acgtaggttctcaggtactgINSgggggcgtcgtagttcacca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:132624667_132624668T>TG	uc001ujy.4	-	11	1789_1790	c.1750_1751A>CA	c.(1750-1752)cagfs	p.Q584fs		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA.	584	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		TCTCAGGTACTGGGGGGCGTCG	0.663													G	132624669	-	G	132624668	7	5	94	1	0	1	1	0	0	0	0	0	4369	1357	47	0	266	0	DDX51	12	132624668	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	120070	132624668	1227227	2328	61461											
POLE	5426	broad.mit.edu	37	chr12	133219828	133219828	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtgtccagcacaaagacGgatgccctgcgctgtgaggg	14	11	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:133219828G>A	uc001uks.1	-	35	4577	c.4533C>T	c.(4531-4533)TCC>TCT	p.S1511S	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Silent_p.S315S|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Silent_p.S1484S	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1511					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCACAAAGACGGATGCCCTGC	0.612								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	133219828	G	A	133219828	2	1	94	1	0	0	0	0	0	0	0	1	12196	1103	39	1		1	POLE	12	133219828	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	595160	133219828	632067	2329	61462											
GOLGA3	2802	broad.mit.edu	37	chr12	133353594	133353594	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcgtccagctgcttctGcaggagctggagctgtgccc	13	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:133353594G>A	uc001ukz.1	-	20	4364	c.3805C>T	c.(3805-3807)CAG>TAG	p.Q1269*	GOLGA3_uc001ula.1_Nonsense_Mutation_p.Q1269*	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1269	Potential.|Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		AGCTGCTTCTGCAGGAGCTGG	0.602													A	133353594	G	A	133353594	4	1	94	1	0	0	0	0	0	1	0	0	6554	1328	46	2	711	2	GOLGA3	12	133353594	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	133766	133353594	498301	2330	61463											
PSPC1	55269	broad.mit.edu	37	chr13	20315777	20315777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtctgagttcttcttgaCgcctcattagatctataaaa	7	9	5	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:20315777C>T	uc001uml.2	-	5	1166	c.980G>A	c.(979-981)CGT>CAT	p.R327H	PSPC1_uc001umj.1_RNA|PSPC1_uc001umk.1_RNA	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	paraspeckle protein 1	327	Sufficient for perinucleolar caps localization and interaction with NONO.|Potential.|Sufficient for paraspeckles localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)	1		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTCTTCTTGACGCCTCATTAG	0.333													T	20315777	C	T	20315777	3	4	94	1	0	0	0	0	1	0	0	0	12716	536	19	1	611	1	PSPC1	13	20315777	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08		20315777	94854101	2331	61464											
GJA3	2700	broad.mit.edu	37	chr13	20716876	20716876	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccgtgttggggcagggCcagcggtcgcagcggtagag	18	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:20716876C>T	uc001umx.1	-	2	724	c.552G>A	c.(550-552)TGG>TGA	p.W184*		NM_021954	NP_068773	Q9Y6H8	CXA3_HUMAN	connexin 46	184	Extracellular (Potential).				cell-cell signaling|visual perception	connexon complex|integral to membrane				pancreas(1)	1		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		TGGGGCAGGGCCAGCGGTCGC	0.602													T	20716876	C	T	20716876	4	4	94	1	0	0	0	0	0	1	0	0	6402	740	26	2	759	2	GJA3	13	20716876	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	401099	20716876	94453002	2332	61465											
XPO4	64328	broad.mit.edu	37	chr13	21382668	21382668	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgaagcaagtaactgttGctgatgtcgttgtaactgac	12	7	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:21382668G>A	uc001unq.3	-	12	1582	c.1546C>T	c.(1546-1548)CAA>TAA	p.Q516*		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	516					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AGTAACTGTTGCTGATGTCGT	0.363													A	21382668	G	A	21382668	4	1	94	1	0	0	0	0	0	1	0	0	17443	1328	46	2	1957	2	XPO4	13	21382668	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	665792	21382668	93787210	2333	61466											
XPO4	64328	broad.mit.edu	37	chr13	21429891	21429891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtagaatctgttcccgaaCatacttttgaaggctgtaaa	8	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:21429891C>T	uc001unq.3	-	4	367	c.331G>A	c.(331-333)GTT>ATT	p.V111I	XPO4_uc010tcr.1_Missense_Mutation_p.V37I	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	111					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGTTCCCGAACATACTTTTGA	0.328													T	21429891	C	T	21429891	3	4	94	1	0	0	0	0	1	0	0	0	17443	478	17	4	3204	4	XPO4	13	21429891	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	47223	21429891	93739987	2334	61467											
LATS2	26524	broad.mit.edu	37	chr13	21562928	21562928	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacctggctgcgggagcccaGcacatgcagctggtgggccg	16	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:21562928G>T	uc009zzs.2	-	4	1356	c.991C>A	c.(991-993)CTG>ATG	p.L331M	LATS2_uc001unr.3_Missense_Mutation_p.L331M	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	331					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGGGAGCCCAGCACATGCAGC	0.706													T	21562928	G	T	21562928	3	4	94	1	0	0	0	0	1	0	0	0	8647	962	34	5	2295	5	LATS2	13	21562928	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	133037	21562928	93606950	2335	61468											
LATS2	26524	broad.mit.edu	37	chr13	21563168	21563168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcggccgcccgtagtgcgCgccctgcagcgggaagtgtg	18	13	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:21563168C>T	uc009zzs.2	-	4	1116	c.751G>A	c.(751-753)GCG>ACG	p.A251T	LATS2_uc001unr.3_Missense_Mutation_p.A251T	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	251					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CCGTAGTGCGCGCCCTGCAGC	0.736													T	21563168	C	T	21563168	3	4	94	1	0	0	0	0	1	0	0	0	8647	768	27	1	2535	1	LATS2	13	21563168	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	240	21563168	93606710	2336	61469											
LATS2	26524	broad.mit.edu	37	chr13	21563349	21563349	+	Frame_Shift_Del	DEL	G	G	-													ccgaagcttgggccctcgtaGggggtaccgctcagctggtg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:21563348_21563348AG>A	uc009zzs.3	-	3	936	c.571_571CT>T	c.(571-573)tacfs	p.Y191fs	LATS2_uc001unr.4_Frame_Shift_Del_p.Y191fs	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	191					G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGGCCCTCGTAGGGGGTACCG	0.682													-	21563349	G	-	21563349	7	5	94	1	0	1	0	1	0	0	0	0	8647	987	35	0	2716	0	LATS2	13	21563349	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	181	21563349	93606529	2337	61470											
SACS	26278	broad.mit.edu	37	chr13	23905041	23905041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accgcctaataatcttttttCgttccgattctggaagcttc	6	11	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:23905041C>T	uc001uon.2	-	10	13563	c.12974G>A	c.(12973-12975)CGA>CAA	p.R4325Q	SACS_uc001uoo.2_Missense_Mutation_p.R4178Q|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4325	J.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATCTTTTTTCGTTCCGATTC	0.378													T	23905041	C	T	23905041	3	4	94	1	0	0	0	0	1	0	0	0	13804	884	31	1	769	1	SACS	13	23905041	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2341692	23905041	91264837	2338	61471											
ATP12A	479	broad.mit.edu	37	chr13	25262564	25262564	+	Frame_Shift_Del	DEL	G	G	-													aagttcctcaagcagatggtGggggggttctctatcctcct					rs35191129		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:25262563_25262563TG>T	uc010aaa.3	+	3	668	c.335_335TG>T	c.(334-336)gtgfs	p.V112fs	ATP12A_uc001upp.3_Frame_Shift_Del_p.V112fs	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	112					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.V112V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AAGCAGATGGTGGGGGGGTTC	0.587													-	25262564	G	-	25262564	7	5	94	1	0	1	0	1	0	0	0	0	1122	1335	47	0	350	0	ATP12A	13	25262564	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	1357523	25262564	89907314	2339	61472											
CENPJ	55835	broad.mit.edu	37	chr13	25484017	25484017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaaataaattaggagacGcacgttttgaagttaagaca	9	5	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:25484017G>A	uc001upt.3	-	4	1029	c.776C>T	c.(775-777)GCG>GTG	p.A259V	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	259					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		ATTAGGAGACGCACGTTTTGA	0.393													A	25484017	G	A	25484017	3	1	94	1	0	0	0	0	1	0	0	0	3234	1087	38	1	3296	1	CENPJ	13	25484017	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	221453	25484017	89685861	2340	61473											
ATP8A2	51761	broad.mit.edu	37	chr13	26436484	26436484	+	Frame_Shift_Del	DEL	T	T	-													gcatgctgacctggctggtgTtttttggcatctactcgacc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:26436483_26436483GT>G	uc001uqk.3	+	32	3262	c.3120_3120GT>G	c.(3118-3120)gtgfs	p.V1040fs	ATP8A2_uc010tdi.2_Frame_Shift_Del_p.V975fs|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Frame_Shift_Del_p.V590fs	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	1000					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CCTGGCTGGTGTTTTTTGGCA	0.522													-	26436484	T	-	26436484	7	5	94	1	0	1	0	1	0	0	0	0	1193	1725	60	0	3251	0	ATP8A2	13	26436484	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	952467	26436484	88733394	2341	61474											
PDX1	3651	broad.mit.edu	37	chr13	28498713	28498713	+	Frame_Shift_Del	DEL	C	C	-													tggcgctgccgccgccgccgCcccccggaggtgctgtgccg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:28498713delC	uc001urt.2	+	2	835	c.727delC	c.(727-729)CCCfs	p.P243fs		NM_000209	NP_000200	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	243	Poly-Pro.		P -> PP (in MODY4).		detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity				0	all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		gccgccgccgccccccggAGG	0.692													-	28498713	C	-	28498713	7	5	94	1	0	1	0	1	0	0	0	0	11695	739	26	0	733	0	PDX1	13	28498713	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	2062229	28498713	86671165	2342	61475											
PAN3	255967	broad.mit.edu	37	chr13	28846132	28846132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaaaggttgcgagtaaattGtgttggagtttttgatgttt	12	1	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:28846132G>A	uc001urz.2	+	13	1543	c.1535G>A	c.(1534-1536)TGT>TAT	p.C512Y	PAN3_uc010tdo.1_Missense_Mutation_p.C658Y|PAN3_uc001ury.2_Missense_Mutation_p.C346Y|PAN3_uc001urx.2_Missense_Mutation_p.C458Y	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	658	Protein kinase.|Interaction with PAN2.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CGAGTAAATTGTGTTGGAGTT	0.274													A	28846132	G	A	28846132	3	1	94	1	0	0	0	0	1	0	0	0	11415	1377	48	4	2027	4	PAN3	13	28846132	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	347419	28846132	86323746	2343	61476											
MTUS2	23281	broad.mit.edu	37	chr13	30066788	30066788	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtcttctttccagaattgAtgtccactcatgagcttgaa	7	9	3	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:30066788A>G	uc001usl.3	+	10	3599	c.3541A>G	c.(3541-3543)ATG>GTG	p.M1181V	MTUS2_uc001usm.3_Missense_Mutation_p.M150V|MTUS2_uc010aau.2_Missense_Mutation_p.M60V	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	1171	Potential.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						TCCAGAATTGATGTCCACTCA	0.348													G	30066788	A	G	30066788	3	3	94	1	0	0	0	0	1	0	0	0	9966	333	12	3	3637	3	MTUS2	13	30066788	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1220656	30066788	85103090	2344	61477											
SLC7A1	6541	broad.mit.edu	37	chr13	30110247	30110247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcaggcagcgagacagccGcgtctcctcccggctacagt	12	15	2	1	rs141349204	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:30110247G>A	uc001uso.2	-	3	466	c.79C>T	c.(79-81)CGG>TGG	p.R27W		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	27	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CGAGACAGCCGCGTCTCCTCC	0.612													A	30110247	G	A	30110247	3	1	94	1	0	0	0	0	1	0	0	0	14692	1086	38	1	1854	1	SLC7A1	13	30110247	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	43459	30110247	85059631	2345	61478											
B3GALTL	145173	broad.mit.edu	37	chr13	31897899	31897899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccactagaatggtcttcaGcagagaagccgtcaggagac	11	11	3	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:31897899G>A	uc010aaz.2	+	14	1306	c.1196G>A	c.(1195-1197)AGC>AAC	p.S399N	B3GALTL_uc001utn.3_RNA|B3GALTL_uc001uto.3_Missense_Mutation_p.S4N	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	399	Lumenal (Potential).				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		ATGGTCTTCAGCAGAGAAGCC	0.527													A	31897899	G	A	31897899	3	1	94	1	0	0	0	0	1	0	0	0	1252	971	34	2	1250	2	B3GALTL	13	31897899	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1787652	31897899	83271979	2346	61479											
RXFP2	122042	broad.mit.edu	37	chr13	32366044	32366044	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggacctcttggctaacaAtatcctcagaatatttgtct	7	9	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:32366044A>C	uc001utt.2	+	15	1318	c.1247A>C	c.(1246-1248)AAT>ACT	p.N416T	RXFP2_uc010aba.2_Missense_Mutation_p.N375T	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	416	Extracellular (Potential).					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTGGCTAACAATATCCTCAGA	0.383													C	32366044	A	C	32366044	3	2	94	1	0	0	0	0	1	0	0	0	13760	101	4	5	1305	5	RXFP2	13	32366044	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	468145	32366044	82803834	2347	61480											
FRY	10129	broad.mit.edu	37	chr13	32759208	32759208	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcctagaagctgaaaatgAcaaagaagttgaaattctta	8	6	1	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:32759208A>G	uc001utx.2	+	26	3738	c.3242A>G	c.(3241-3243)GAC>GGC	p.D1081G	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1081					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCTGAAAATGACAAAGAAGTT	0.448													G	32759208	A	G	32759208	3	3	94	1	0	0	0	0	1	0	0	0	6063	275	10	3	3344	3	FRY	13	32759208	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	393164	32759208	82410670	2348	61481											
FRY	10129	broad.mit.edu	37	chr13	32839600	32839600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccaggctgaagctgttcGtgaggaggaggacaccaccg	14	11	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:32839600G>A	uc001utx.2	+	54	8289	c.7793G>A	c.(7792-7794)CGT>CAT	p.R2598H	FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Missense_Mutation_p.R153H|FRY_uc001utz.2_Missense_Mutation_p.R123H|FRY_uc010tdx.1_Translation_Start_Site	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GAAGCTGTTCGTGAGGAGGAG	0.443													A	32839600	G	A	32839600	3	1	94	1	0	0	0	0	1	0	0	0	6063	1145	40	1	8007	1	FRY	13	32839600	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	80392	32839600	82330278	2349	61482											
KL	9365	broad.mit.edu	37	chr13	33635594	33635594	+	Frame_Shift_Del	DEL	A	A	-													tccttatttcactgaagatgAaaaaaagctaatccagggta							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:33635594delA	uc001uus.2	+	4	2386	c.2378delA	c.(2377-2379)GAAfs	p.E793fs	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	793	Glycosyl hydrolase-1 2.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ACTGAAGATGAAAAAAAGCTA	0.393													-	33635594	A	-	33635594	7	5	94	1	0	1	0	1	0	0	0	0	8331	246	9	0	2392	0	KL	13	33635594	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	795994	33635594	81534284	2350	61483											
SPG20	23111	broad.mit.edu	37	chr13	36909272	36909272	+	Frame_Shift_Del	DEL	A	A	-													acctcccctgcaggatttacAaaaaaaatctgtactccatt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:36909271_36909271CA>C	uc001uvn.3	-	2	967	c.697_697TG>G	c.(697-699)gtafs	p.V233fs	SPG20_uc010ten.2_Frame_Shift_Del_p.V233fs|SPG20_uc001uvm.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvo.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvq.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvp.2_Frame_Shift_Del_p.V233fs	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	233					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		GCAGGATTTACAAAAAAAATC	0.438													-	36909272	A	-	36909272	7	5	94	1	0	1	0	1	0	0	0	0	15041	127	5	0	1336	0	SPG20	13	36909272	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	3273678	36909272	78260606	2351	61484											
FREM2	341640	broad.mit.edu	37	chr13	39265389	39265389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatccctgttgatgatgagaCgcccagaatgactatcaata	8	9	1	5	rs138477887	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:39265389C>T	uc001uwv.2	+	1	4217	c.3908C>T	c.(3907-3909)ACG>ATG	p.T1303M		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1303	Extracellular (Potential).|CSPG 9.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GATGATGAGACGCCCAGAATG	0.383													T	39265389	C	T	39265389	3	4	94	1	0	0	0	0	1	0	0	0	6045	536	19	1	3910	1	FREM2	13	39265389	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2356117	39265389	75904489	2352	61485											
WBP4	11193	broad.mit.edu	37	chr13	41656921	41656921	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggcggagaacccaaAgtggtatttaaagaaaaaac	12	5	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:41656921A>G	uc001uxt.2	+	10	1115	c.1002A>G	c.(1000-1002)AAA>AAG	p.K334K	WBP4_uc010tfd.1_Silent_p.K313K	NM_007187	NP_009118	O75554	WBP4_HUMAN	WW domain-containing binding protein 4	334					nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|kidney(1)	3		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		GAGAACCCAAAGTGGTATTTA	0.398													G	41656921	A	G	41656921	2	3	94	1	0	0	0	0	0	0	0	1	17258	69	3	3		3	WBP4	13	41656921	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	2391532	41656921	73512957	2353	61486											
TNFSF11	8600	broad.mit.edu	37	chr13	43180821	43180821	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtatcttcaactaatggtgTacgtcactaaaaccagcatc	6	10	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:43180821T>C	uc001uyu.2	+	5	870	c.721T>C	c.(721-723)TAC>CAC	p.Y241H	TNFSF11_uc001uyt.2_Missense_Mutation_p.Y168H	NM_003701	NP_003692	O14788	TNF11_HUMAN	tumor necrosis factor ligand superfamily, member	241	Extracellular (Potential).				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding				0		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		ACTAATGGTGTACGTCACTAA	0.393													C	43180821	T	C	43180821	3	2	94	1	0	0	0	0	1	0	0	0	16299	1638	57	3	739	3	TNFSF11	13	43180821	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1523900	43180821	71989057	2354	61487											
CCDC122	160857	broad.mit.edu	37	chr13	44434096	44434096	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagtttccaggctatcacaAtgaagtttggtattctctat	8	7	2	2	rs144888345		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:44434096A>G	uc010acf.2	-	5	526	c.267T>C	c.(265-267)CAT>CAC	p.H89H	CCDC122_uc010tfn.1_Silent_p.H89H	NM_144974	NP_659411	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	89	Potential.										0		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		GGCTATCACAATGAAGTTTGG	0.333													G	44434096	A	G	44434096	2	3	94	1	0	0	0	0	0	0	0	1	2758	98	4	3		3	CCDC122	13	44434096	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1253275	44434096	70735782	2355	61488											
SPERT	220082	broad.mit.edu	37	chr13	46287328	46287328	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccgcagaggggcacagcCgaacccttcccgaggctcca	11	18	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:46287328C>T	uc001van.1	+	3	248	c.168C>T	c.(166-168)GCC>GCT	p.A56A	SPERT_uc001vao.2_Silent_p.A20A	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	56						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GGGGCACAGCCGAACCCTTCC	0.647													T	46287328	C	T	46287328	2	4	94	1	0	0	0	0	0	0	0	1	15038	639	23	1		1	SPERT	13	46287328	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1853232	46287328	68882550	2356	61489											
ZC3H13	23091	broad.mit.edu	37	chr13	46542050	46542050	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctctgtcgtgttcatatcGatctcgttcttgaagcctgt	8	11	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:46542050G>A	uc010tfw.1	-	14	3916	c.3910C>T	c.(3910-3912)CGA>TGA	p.R1304*	ZC3H13_uc001vaq.2_5'UTR|ZC3H13_uc001vas.1_Nonsense_Mutation_p.R1304*	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1304	Potential.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TGTTCATATCGATCTCGTTCT	0.244													A	46542050	G	A	46542050	4	1	94	1	0	0	0	0	0	1	0	0	17562	1066	37	1	796	1	ZC3H13	13	46542050	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	254722	46542050	68627828	2357	61490											
MED4	29079	broad.mit.edu	37	chr13	48651317	48651317	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgaggagtccgttgacatAatctctacatcatcttcatt	6	10	4	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:48651317A>G	uc001vby.1	-	7	797	c.771T>C	c.(769-771)ATT>ATC	p.I257I	MED4_uc010tge.1_Silent_p.I257I|MED4_uc010tgf.1_Silent_p.I211I	NM_014166	NP_054885	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	257					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		CCGTTGACATAATCTCTACAT	0.343													G	48651317	A	G	48651317	2	3	94	1	0	0	0	0	0	0	0	1	9450	358	13	3		3	MED4	13	48651317	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	2109267	48651317	66518561	2358	61491											
THSD1	55901	broad.mit.edu	37	chr13	52972005	52972005	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaagtcaacgtgaaagacaGgccattccaccttcagaaag	8	11	3	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:52972005G>T	uc001vgo.2	-	3	928	c.383C>A	c.(382-384)CCT>CAT	p.P128H	THSD1_uc001vgp.2_Missense_Mutation_p.P128H|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	128	Extracellular (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GTGAAAGACAGGCCATTCCAC	0.522													T	52972005	G	T	52972005	3	4	94	1	0	0	0	0	1	0	0	0	15874	1000	35	5	2187	5	THSD1	13	52972005	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4320688	52972005	62197873	2359	61492											
HNRNPA1L2	144983	broad.mit.edu	37	chr13	53217089	53217089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcctttgtaacctttgaCgaccatgactccgtggataa	8	10	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:53217089C>T	uc001vgx.1	+	7	1535	c.462C>T	c.(460-462)GAC>GAT	p.D154D	HNRNPA1L2_uc001vgy.1_Silent_p.D154D|HNRNPA1L2_uc001vgz.1_Silent_p.D154D	NM_001011724	NP_001011724	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like	154	Globular B domain.|RRM 2.				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding				0						TAACCTTTGACGACCATGACT	0.413													T	53217089	C	T	53217089	2	4	94	1	0	0	0	0	0	0	0	1	7258	535	19	1		1	HNRNPA1L2	13	53217089	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	245084	53217089	61952789	2360	61493											
PCDH17	27253	broad.mit.edu	37	chr13	58240906	58240906	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaaggctcctgctgtgacatGtctgttagggaggcactcaa	12	9	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:58240906G>C	uc001vhq.1	+	3	3628	c.2736G>C	c.(2734-2736)ATG>ATC	p.M912I	PCDH17_uc010aec.1_Missense_Mutation_p.M911I|PCDH17_uc001vhr.1_Missense_Mutation_p.M1I	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	912	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCTGTGACATGTCTGTTAGGG	0.473													C	58240906	G	C	58240906	3	2	94	1	0	0	0	0	1	0	0	0	11512	1377	48	5	2746	5	PCDH17	13	58240906	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	5023817	58240906	56928972	2361	61494											
DACH1	1602	broad.mit.edu	37	chr13	72204775	72204776	+	Frame_Shift_Ins	INS	-	-	T													ctcatggcttctaatttgatINSttttttcaccttcattgctt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:72204774_72204775A>AT	uc021rkj.1	-	2	1468_1469	c.1045_1046T>AT	c.(1045-1047)atcfs	p.I349fs	DACH1_uc021rkk.1_Frame_Shift_Ins_p.I349fs|DACH1_uc021rkl.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	347	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TTCTAATTTGATTTTTTTCACC	0.411													T	72204776	-	T	72204775	7	5	94	1	0	1	1	0	0	0	0	0	4220	1493	52	0	1117	0	DACH1	13	72204775	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	13963869	72204775	42965103	2362	61495											
C13orf34	79866	broad.mit.edu	37	chr13	73320157	73320157	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcataactagtccttcgcctAtttcttcacccactttctca	3	15	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:73320157A>G	uc001viv.1	+	9	933	c.814A>G	c.(814-816)ATT>GTT	p.I272V	C13orf34_uc010thq.1_Missense_Mutation_p.I47V|C13orf34_uc010aen.1_Missense_Mutation_p.I347V|C13orf34_uc010thr.1_Missense_Mutation_p.I202V|C13orf34_uc001viw.1_Missense_Mutation_p.I221V	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	aurora borealis	272	Ser-rich.				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding				0		Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.000227)		TCCTTCGCCTATTTCTTCACC	0.348													G	73320157	A	G	73320157	3	3	94	1	0	0	0	0	1	0	0	0	1728	449	16	3	844	3	C13orf34	13	73320157	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1115382	73320157	41849721	2363	61496											
C13orf34	79866	broad.mit.edu	37	chr13	73320842	73320842	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttttactcttgagactcaaGgtgaagatgaggaagataaa	10	5	2	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:73320842G>T	uc001viv.1	+	10	1194	c.1075G>T	c.(1075-1077)GGT>TGT	p.G359C	C13orf34_uc010thq.1_Missense_Mutation_p.G134C|C13orf34_uc010aen.1_Missense_Mutation_p.G434C|C13orf34_uc010thr.1_Missense_Mutation_p.G289C|C13orf34_uc001viw.1_Missense_Mutation_p.G308C	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	aurora borealis	359					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding				0		Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.000227)		TGAGACTCAAGGTGAAGATGA	0.433													T	73320842	G	T	73320842	3	4	94	1	0	0	0	0	1	0	0	0	1728	1000	35	5	1109	5	C13orf34	13	73320842	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	685	73320842	41849036	2364	61497											
TBC1D4	9882	broad.mit.edu	37	chr13	75898394	75898394	+	Frame_Shift_Del	DEL	G	G	-													tgatttcattttcatactgtGgggacagtctacctgaattc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:75898394delG	uc001vjl.1	-	11	2524	c.2177delC	c.(2176-2178)CCAfs	p.P726fs	TBC1D4_uc010aer.2_Frame_Shift_Del_p.P726fs|TBC1D4_uc010aes.2_Intron	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	726	Ser-rich.					cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTCATACTGTGGGGACAGTCT	0.418													-	75898394	G	-	75898394	7	5	94	1	0	1	0	1	0	0	0	0	15619	1348	47	0	1763	0	TBC1D4	13	75898394	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	2577552	75898394	39271484	2365	61498											
MYCBP2	23077	broad.mit.edu	37	chr13	77664391	77664391	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtatcagttatgggactggTttctaaactgtacatggaac	10	6	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:77664391T>C	uc001vkf.2	-	61	10352	c.10261A>G	c.(10261-10263)ACC>GCC	p.T3421A	MYCBP2_uc010aev.2_Missense_Mutation_p.T2825A|MYCBP2_uc001vke.2_Missense_Mutation_p.T41A	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATGGGACTGGTTTCTAAACTG	0.343													C	77664391	T	C	77664391	3	2	94	1	0	0	0	0	1	0	0	0	10018	1725	60	3	3757	3	MYCBP2	13	77664391	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1765997	77664391	37505487	2366	61499											
SCEL	8796	broad.mit.edu	37	chr13	78130014	78130014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttactggaaggcagcatgTccaatgttaccttgagaaaa	9	9	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:78130014T>C	uc001vki.2	+	2	174	c.4T>C	c.(4-6)TCC>CCC	p.S2P	SCEL_uc001vkj.2_Missense_Mutation_p.S2P|SCEL_uc010thx.1_Missense_Mutation_p.S2P	NM_144777	NP_659001	O95171	SCEL_HUMAN	sciellin isoform 1	2					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			ovary(4)|breast(1)	5		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AGGCAGCATGTCCAATGTTAC	0.368													C	78130014	T	C	78130014	3	2	94	1	0	0	0	0	1	0	0	0	13888	1667	58	3	6	3	SCEL	13	78130014	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	465623	78130014	37039864	2367	61500											
SLITRK1	114798	broad.mit.edu	37	chr13	84454996	84454996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagagcagatcacaggtgCagtcccaagggttatcctct	13	10	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:84454996C>T	uc001vlk.2	-	1	1533	c.647G>A	c.(646-648)TGC>TAC	p.C216Y		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	216	Extracellular (Potential).|LRRCT 1.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ATCACAGGTGCAGTCCCAAGG	0.562													T	84454996	C	T	84454996	3	4	94	1	0	0	0	0	1	0	0	0	14742	710	25	2	1447	2	SLITRK1	13	84454996	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	6324982	84454996	30714882	2368	61501											
GPC5	2262	broad.mit.edu	37	chr13	92408615	92408615	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagctgatcagctttgtgcTaatgaattagctgctgcaga	10	8	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:92408615T>C	uc010tif.1	+	5	1587	c.1221T>C	c.(1219-1221)GCT>GCC	p.A407A		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	407						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AGCTTTGTGCTAATGAATTAG	0.373													C	92408615	T	C	92408615	2	2	94	1	0	0	0	0	0	0	0	1	6601	1509	53	3		3	GPC5	13	92408615	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	7953619	92408615	22761263	2369	61502											
DCT	1638	broad.mit.edu	37	chr13	95121135	95121135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtgatcacgtagtcggGgtgtactctcttcttcgcga	13	9	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:95121135G>A	uc001vlv.3	-	2	887	c.460C>T	c.(460-462)CCC>TCC	p.P154S	DCT_uc010afh.2_Missense_Mutation_p.P154S	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	154	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		ACGTAGTCGGGGTGTACTCTC	0.517													A	95121135	G	A	95121135	3	1	94	1	0	0	0	0	1	0	0	0	4304	1232	43	4	1234	4	DCT	13	95121135	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2712520	95121135	20048743	2370	61503											
ABCC4	10257	broad.mit.edu	37	chr13	95813534	95813534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaagagttaacaaggacGtagaataccaatagagatct	10	5	1	4	rs11568709		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:95813534G>A	uc001vmd.3	-	19	2483	c.2364C>T	c.(2362-2364)TAC>TAT	p.Y788Y	ABCC4_uc010afk.2_Silent_p.Y741Y|ABCC4_uc001vme.2_Silent_p.Y788Y|ABCC4_uc010tih.1_Silent_p.Y713Y	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	788	ABC transmembrane type-1 2.|Helical; (Potential).				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TAACAAGGACGTAGAATACCA	0.353													A	95813534	G	A	95813534	2	1	94	1	0	0	0	0	0	0	0	1	55	1140	40	1		1	ABCC4	13	95813534	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	692399	95813534	19356344	2371	61504											
ABCC4	10257	broad.mit.edu	37	chr13	95860172	95860172	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatccgtgaaagttgcagTtttactcctaaggggaacca	11	9	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:95860172T>C	uc001vmd.3	-	7	912	c.793A>G	c.(793-795)ACT>GCT	p.T265A	ABCC4_uc010afk.2_Missense_Mutation_p.T265A|ABCC4_uc001vme.2_Missense_Mutation_p.T265A|ABCC4_uc010tih.1_Missense_Mutation_p.T190A|ABCC4_uc001vmf.2_Missense_Mutation_p.T222A|ABCC4_uc010afl.1_Missense_Mutation_p.T222A|ABCC4_uc010afm.1_Missense_Mutation_p.T278A	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	265	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	AAAGTTGCAGTTTTACTCCTA	0.478													C	95860172	T	C	95860172	3	2	94	1	0	0	0	0	1	0	0	0	55	1725	60	3	3333	3	ABCC4	13	95860172	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	46638	95860172	19309706	2372	61505											
MBNL2	10150	broad.mit.edu	37	chr13	98009806	98009806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaagcaatggtaccagcgCggtctttaaccccagcgtct	9	12	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:98009806C>T	uc010aft.2	+	6	1691	c.875C>T	c.(874-876)GCG>GTG	p.A292V	MBNL2_uc001vmz.2_Missense_Mutation_p.A292V|MBNL2_uc001vna.2_Missense_Mutation_p.A292V|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Missense_Mutation_p.A137V|MBNL2_uc001vnc.2_Missense_Mutation_p.A25V	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	muscleblind-like 2 isoform 1	292					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding				0	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			GGTACCAGCGCGGTCTTTAAC	0.502													T	98009806	C	T	98009806	3	4	94	1	0	0	0	0	1	0	0	0	9354	768	27	1	893	1	MBNL2	13	98009806	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2149634	98009806	17160072	2373	61506											
RNF113B	140432	broad.mit.edu	37	chr13	98828627	98828627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcacagatgtagcagcgCggggtggcccggaagtgctc	17	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:98828627C>T	uc001vnk.2	-	1	895	c.864G>A	c.(862-864)CCG>CCA	p.P288P	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	288	RING-type.						nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TGTAGCAGCGCGGGGTGGCCC	0.582													T	98828627	C	T	98828627	2	4	94	1	0	0	0	0	0	0	0	1	13428	755	27	1		1	RNF113B	13	98828627	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	818821	98828627	16341251	2374	61507											
RNF113B	140432	broad.mit.edu	37	chr13	98829348	98829348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgccctcgtccccgctgCtgctgctctctccgtgctcg	10	19	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:98829348C>T	uc001vnk.2	-	1	174	c.143G>A	c.(142-144)AGC>AAC	p.S48N	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	48							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GTCCCCGCTGCTGCTGCTCTC	0.697													T	98829348	C	T	98829348	3	4	94	1	0	0	0	0	1	0	0	0	13428	797	28	2	833	2	RNF113B	13	98829348	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	721	98829348	16340530	2375	61508											
ZIC2	7546	broad.mit.edu	37	chr13	100637714	100637714	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccccagcggcggcggcAgcggcggcggcggctgcggc	20	16	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:100637714A>T	uc001von.2	+	3	1377	c.1377A>T	c.(1375-1377)GCA>GCT	p.A459A		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	459	Poly-Ala.				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					cggcggcggcagcggcggcgg	0.328													T	100637714	A	T	100637714	2	4	94	1	0	0	0	0	0	0	0	1	17676	175	7	5		5	ZIC2	13	100637714	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1808366	100637714	14532164	2376	61509											
NALCN	259232	broad.mit.edu	37	chr13	101757264	101757264	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagttgatggtactttgTatttttcacagctcctgtga	8	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:101757264T>C	uc001vox.1	-	23	2806	c.2617A>G	c.(2617-2619)ACA>GCA	p.T873A		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	873	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGGTACTTTGTATTTTTCACA	0.318													C	101757264	T	C	101757264	3	2	94	1	0	0	0	0	1	0	0	0	10148	1638	57	3	2687	3	NALCN	13	101757264	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1119550	101757264	13412614	2377	61510											
TPP2	7174	broad.mit.edu	37	chr13	103290596	103290596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttttttcaaggtatgtgGctatgatatagcatccccta	7	8	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:103290596G>A	uc001vpi.3	+	15	1947	c.1844G>A	c.(1843-1845)GGC>GAC	p.G615D		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	615					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGGTATGTGGCTATGATATA	0.403													A	103290596	G	A	103290596	3	1	94	1	0	0	0	0	1	0	0	0	16409	1203	42	2	1902	2	TPP2	13	103290596	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1533332	103290596	11879282	2378	61511											
ERCC5	2073	broad.mit.edu	37	chr13	103518251	103518251	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcgctccatgaatggcaagAtattaatttggtaataccgt	8	7	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:103518251A>G	uc001vpw.2	+	9	2632	c.2189A>G	c.(2188-2190)GAT>GGT	p.D730G	ERCC5_uc001vpu.1_Missense_Mutation_p.D1184G|ERCC5_uc010tjb.1_Missense_Mutation_p.D730G|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.D562G	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	730					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GAATGGCAAGATATTAATTTG	0.458			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				G	103518251	A	G	103518251	3	3	94	1	0	0	0	0	1	0	0	0	5216	333	12	3	2223	3	ERCC5	13	103518251	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	227655	103518251	11651627	2379	61512											
MYO16	23026	broad.mit.edu	37	chr13	109779686	109779686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctccatgtcagtctgcgCggccgtggatggcctgggcc	15	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:109779686C>T	uc001vqt.1	+	31	3899	c.3773C>T	c.(3772-3774)GCG>GTG	p.A1258V	MYO16_uc010agk.1_Missense_Mutation_p.A1280V|MYO16_uc010tjh.1_Missense_Mutation_p.A770V	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1258					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCAGTCTGCGCGGCCGTGGAT	0.607													T	109779686	C	T	109779686	3	4	94	1	0	0	0	0	1	0	0	0	10064	768	27	1	3891	1	MYO16	13	109779686	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	6261435	109779686	5390192	2380	61513											
MYO16	23026	broad.mit.edu	37	chr13	109779790	109779790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcagcctcccgtctccaCggaaacagcccccgcccaag	9	20	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:109779790C>T	uc001vqt.1	+	31	4003	c.3877C>T	c.(3877-3879)CGG>TGG	p.R1293W	MYO16_uc010agk.1_Missense_Mutation_p.R1315W|MYO16_uc010tjh.1_Missense_Mutation_p.R805W	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1293					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCCGTCTCCACGGAAACAGCC	0.662													T	109779790	C	T	109779790	3	4	94	1	0	0	0	0	1	0	0	0	10064	527	19	1	3995	1	MYO16	13	109779790	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	104	109779790	5390088	2381	61514											
MYO16	23026	broad.mit.edu	37	chr13	109793423	109793423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggccttcccgccggagccCgccccggtgaacgcggggaa	15	16	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:109793423C>T	uc001vqt.1	+	32	4923	c.4797C>T	c.(4795-4797)CCC>CCT	p.P1599P	MYO16_uc010agk.1_Silent_p.P1621P	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1599	Pro-rich.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CGCCGGAGCCCGCCCCGGTGA	0.617													T	109793423	C	T	109793423	2	4	94	1	0	0	0	0	0	0	0	1	10064	639	23	1		1	MYO16	13	109793423	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	13633	109793423	5376455	2382	61515											
IRS2	8660	broad.mit.edu	37	chr13	110434515	110434515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctgccgacgcccacagCgctgatgagacccccgaggc	14	16	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:110434515C>T	uc001vqv.2	-	1	4400	c.3886G>A	c.(3886-3888)GCT>ACT	p.A1296T		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1296					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			ACGCCCACAGCGCTGATGAGA	0.557													T	110434515	C	T	110434515	3	4	94	1	0	0	0	0	1	0	0	0	7841	768	27	1	138	1	IRS2	13	110434515	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	641092	110434515	4735363	2383	61516											
IRS2	8660	broad.mit.edu	37	chr13	110436740	110436740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagacccggcggtaggagCggccacagtggctcaggggc	18	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:110436740C>T	uc001vqv.2	-	1	2175	c.1661G>A	c.(1660-1662)CGC>CAC	p.R554H		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	554					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GCGGTAGGAGCGGCCACAGTG	0.736													T	110436740	C	T	110436740	3	4	94	1	0	0	0	0	1	0	0	0	7841	768	27	1	2363	1	IRS2	13	110436740	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2225	110436740	4733138	2384	61517											
ING1	3621	broad.mit.edu	37	chr13	111371744	111371744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggagctggtggagaaccGcacgcggcaggtggacagcc	19	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:111371744G>A	uc001vri.2	+	2	1166	c.734G>A	c.(733-735)CGC>CAC	p.R245H	ING1_uc001vrf.2_Missense_Mutation_p.R58H|ING1_uc001vrg.2_Missense_Mutation_p.R33H|ING1_uc001vrh.2_Missense_Mutation_p.R102H	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1 isoform D	245					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			ovary(1)	1	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GTGGAGAACCGCACGCGGCAG	0.672													A	111371744	G	A	111371744	3	1	94	1	0	0	0	0	1	0	0	0	7735	1087	38	1	888	1	ING1	13	111371744	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	935004	111371744	3798134	2385	61518											
TUBGCP3	10426	broad.mit.edu	37	chr13	113140461	113140461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaccaaaaactgctgcacgAtaccctaaaaagaagcaaaa	5	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:113140461A>G	uc001vse.1	-	22	2757	c.2570T>C	c.(2569-2571)ATC>ACC	p.I857T	TUBGCP3_uc010tjq.1_Missense_Mutation_p.I847T	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	857					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CTGCTGCACGATACCCTAAAA	0.448													G	113140461	A	G	113140461	3	3	94	1	0	0	0	0	1	0	0	0	16764	333	12	3	157	3	TUBGCP3	13	113140461	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1768717	113140461	2029417	2386	61519											
FAM70B	348013	broad.mit.edu	37	chr13	114469097	114469097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctccccacagaagggctttCgaggaggaagaagacgtcgc	13	12	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:114469097C>T	uc001vuh.2	+	2	83	c.56C>T	c.(55-57)TCG>TTG	p.S19L	FAM70B_uc010tkh.1_Missense_Mutation_p.S19L	NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	19						integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			GAAGGGCTTTCGAGGAGGAAG	0.637													T	114469097	C	T	114469097	3	4	94	1	0	0	0	0	1	0	0	0	5606	893	31	1	62	1	FAM70B	13	114469097	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1328636	114469097	700781	2387	61520											
TEP1	7011	broad.mit.edu	37	chr14	20841863	20841863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctccatggcagctgcaCagtggctaatgggtcctgag	16	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:20841863C>T	uc001vxe.2	-	45	6618	c.6578G>A	c.(6577-6579)TGT>TAT	p.C2193Y	TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.2_Missense_Mutation_p.C1536Y|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.C2085Y|TEP1_uc010tlh.1_Missense_Mutation_p.C531Y	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2193	WD 14.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGCAGCTGCACAGTGGCTAAT	0.587													T	20841863	C	T	20841863	3	4	94	1	0	0	0	0	1	0	0	0	15756	478	17	4	1349	4	TEP1	14	20841863	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08		20841863	86507677	2388	61521											
RNASE2	6036	broad.mit.edu	37	chr14	21424363	21424363	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacaacagagatcaacgaCgagaccctccacagtatccg	9	13	1	3	rs149973422		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:21424363C>T	uc010aif.2	+	2	502	c.433C>T	c.(433-435)CGA>TGA	p.R145*	RNASE2_uc001vyl.1_Nonsense_Mutation_p.R145*	NM_002934	NP_002925	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver,	145					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			ovary(1)	1	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		AGATCAACGACGAGACCCTCC	0.473													T	21424363	C	T	21424363	4	4	94	1	0	0	0	0	0	1	0	0	13404	528	19	1	435	1	RNASE2	14	21424363	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	582500	21424363	85925177	2389	61522											
FLJ10357	55701	broad.mit.edu	37	chr14	21542374	21542374	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaccggccaacaggtcgccTcagtacctgcctactgtctg	11	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:21542374T>G	uc001vzp.2	+	3	514	c.485T>G	c.(484-486)CTC>CGC	p.L162R	FLJ10357_uc001vzn.1_Missense_Mutation_p.L162R|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_5'UTR	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	162					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		ACAGGTCGCCTCAGTACCTGC	0.592													G	21542374	T	G	21542374	3	3	94	1	0	0	0	0	1	0	0	0	5926	1551	54	5	495	5	FLJ10357	14	21542374	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	118011	21542374	85807166	2390	61523											
FLJ10357	55701	broad.mit.edu	37	chr14	21549845	21549845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccctgcgagaatggggcCgctgccaggcccgctgccaa	14	16	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:21549845C>T	uc001vzp.2	+	14	2847	c.2818C>T	c.(2818-2820)CGC>TGC	p.R940C	FLJ10357_uc001vzo.1_Missense_Mutation_p.R19C|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.R226C	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	940	Potential.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		AGAATGGGGCCGCTGCCAGGC	0.731													T	21549845	C	T	21549845	3	4	94	1	0	0	0	0	1	0	0	0	5926	652	23	1	2872	1	FLJ10357	14	21549845	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	7471	21549845	85799695	2391	61524											
FLJ10357	55701	broad.mit.edu	37	chr14	21549929	21549929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccacggggctaccgacgaCggcgggcagacggtgccagc	17	15	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:21549929C>T	uc001vzp.2	+	14	2931	c.2902C>T	c.(2902-2904)CGG>TGG	p.R968W	FLJ10357_uc001vzo.1_Missense_Mutation_p.R47W|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.R254W	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	968	Poly-Arg.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		CTACCGACGACGGCGGGCAGA	0.726													T	21549929	C	T	21549929	3	4	94	1	0	0	0	0	1	0	0	0	5926	527	19	1	2956	1	FLJ10357	14	21549929	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	84	21549929	85799611	2392	61525											
CHD8	57680	broad.mit.edu	37	chr14	21896109	21896109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctttcagcctctccccaGcactcttcttcctgcgtttc	4	19	5	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:21896109G>A	uc001was.1	-	4	777	c.683C>T	c.(682-684)GCT>GTT	p.A228V	CHD8_uc001war.1_Missense_Mutation_p.A124V	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	507					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCTCTCCCCAGCACTCTTCTT	0.527													A	21896109	G	A	21896109	3	1	94	1	0	0	0	0	1	0	0	0	3331	971	34	2	6365	2	CHD8	14	21896109	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	346180	21896109	85453431	2393	61526											
TOX4	9878	broad.mit.edu	37	chr14	21960775	21960775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaccagcttcaatagagCcccctgccctgtccccatcc	6	20	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:21960775C>T	uc001waz.2	+	7	1103	c.1000C>T	c.(1000-1002)CCC>TCC	p.P334S	TOX4_uc001way.2_Missense_Mutation_p.P204S|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Missense_Mutation_p.P311S|TOX4_uc010tlv.1_Missense_Mutation_p.P204S	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	334						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			ovary(1)	1	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TTCAATAGAGCCCCCTGCCCT	0.527													T	21960775	C	T	21960775	3	4	94	1	0	0	0	0	1	0	0	0	16377	739	26	2	1026	2	TOX4	14	21960775	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	64666	21960775	85388765	2394	61527											
PSMB11	122706	broad.mit.edu	37	chr14	23511636	23511636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattgctgcagctgacacgCgttcctcctgtggcagctat	10	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:23511636C>T	uc010ake.1	+	1	261	c.202C>T	c.(202-204)CGT>TGT	p.R68C		NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN	proteasome beta 11 subunit precursor	68					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity				0	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		AGCTGACACGCGTTCCTCCTG	0.622													T	23511636	C	T	23511636	3	4	94	1	0	0	0	0	1	0	0	0	12676	768	27	1	204	1	PSMB11	14	23511636	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1550861	23511636	83837904	2395	61528											
BCL2L2	599	broad.mit.edu	37	chr14	23778156	23778157	+	Frame_Shift_Ins	INS	-	-	T													ccctggtaactgtaggggccINSttttttgctagcaagtgaaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:23778156_23778157insT	uc001wjg.3	+	4	752_753	c.564_565insT	c.(562-567)GCCTTTfs	p.A188fs	PABPN1_uc001wjh.3_Intron|BCL2L2_uc001wji.3_Frame_Shift_Ins_p.A188fs	NM_004050	NP_004041	Q92843	B2CL2_HUMAN	BCL2-like 2 protein	188_189					anti-apoptosis|apoptosis|spermatogenesis	mitochondrial membrane	protein binding			central_nervous_system(1)	1	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00654)		CTGTAGGGGCCTTTTTTGCTAG	0.634													T	23778157	-	T	23778156	7	5	94	1	0	1	1	0	0	0	0	0	1374	668	24	0	570	0	BCL2L2	14	23778156	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	266520	23778156	83571384	2396	61529											
MYH6	4624	broad.mit.edu	37	chr14	23853810	23853810	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttgagggcgatctgctcGgcctcgtccagccggtgctg	14	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:23853810G>A	uc001wjv.2	-	36	5473	c.5406C>T	c.(5404-5406)GCC>GCT	p.A1802A		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1802	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGATCTGCTCGGCCTCGTCCA	0.632													A	23853810	G	A	23853810	2	1	94	1	0	0	0	0	0	0	0	1	10038	1103	39	1		1	MYH6	14	23853810	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	75654	23853810	83495730	2397	61530											
LRRC16B	90668	broad.mit.edu	37	chr14	24529193	24529193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagcaaccacacgctgcGcttcatgtccttccccgtga	7	18	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:24529193G>A	uc001wlj.2	+	23	2040	c.1883G>A	c.(1882-1884)CGC>CAC	p.R628H	LRRC16B_uc001wlk.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	628										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		CACACGCTGCGCTTCATGTCC	0.652													A	24529193	G	A	24529193	3	1	94	1	0	0	0	0	1	0	0	0	8972	1087	38	1	1973	1	LRRC16B	14	24529193	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	675383	24529193	82820347	2398	61531											
TSSK4	283629	broad.mit.edu	37	chr14	24676542	24676542	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcttgcccagagatcttaCgaggcttgccctacaaccct	8	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:24676542C>T	uc001wng.2	+	3	799	c.631C>T	c.(631-633)CGA>TGA	p.R211*	TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.2_Nonsense_Mutation_p.R135*|TSSK4_uc001wnf.2_Nonsense_Mutation_p.R141*|TSSK4_uc001wnh.2_Nonsense_Mutation_p.R221*	NM_174944	NP_777604	Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	211	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity				0				GBM - Glioblastoma multiforme(265;0.018)		AGAGATCTTACGAGGCTTGCC	0.537													T	24676542	C	T	24676542	4	4	94	1	0	0	0	0	0	1	0	0	16668	528	19	1	671	1	TSSK4	14	24676542	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	147349	24676542	82672998	2399	61532											
TINF2	26277	broad.mit.edu	37	chr14	24709992	24709992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgccaggcttggcttttgGcaggggattgtggagtgcta	17	6	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:24709992G>A	uc001woa.3	-	6	1036	c.694C>T	c.(694-696)CCA>TCA	p.P232S	TINF2_uc010alm.2_Missense_Mutation_p.P56S|TINF2_uc001wob.3_Missense_Mutation_p.P232S|TINF2_uc010tof.1_Missense_Mutation_p.P197S|TINF2_uc001woc.3_3'UTR	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	232					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|protein binding|telomeric DNA binding				0				GBM - Glioblastoma multiforme(265;0.0185)		TTGGCTTTTGGCAGGGGATTG	0.537									Ataxia_Pancytopenia_syndrome|Congenital_Dyskeratosis				A	24709992	G	A	24709992	3	1	94	1	0	0	0	0	1	0	0	0	15920	1203	42	2	681	2	TINF2	14	24709992	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	33450	24709992	82639548	2400	61533											
TGM1	7051	broad.mit.edu	37	chr14	24724429	24724429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgccgtgggctgctgctGtctctactgccttccgctct	11	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:24724429G>A	uc001wod.2	-	12	1800	c.1676C>T	c.(1675-1677)ACA>ATA	p.T559I	TGM1_uc010tog.1_Missense_Mutation_p.T117I	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	559					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GGCTGCTGCTGTCTCTACTGC	0.622													A	24724429	G	A	24724429	3	1	94	1	0	0	0	0	1	0	0	0	15826	1377	48	4	793	4	TGM1	14	24724429	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	14437	24724429	82625111	2401	61534											
NYNRIN	57523	broad.mit.edu	37	chr14	24878156	24878156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctggctcctgtcccagGcgtgcttcaatttccccttc	9	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:24878156G>A	uc001wpf.3	+	4	1474	c.1156G>A	c.(1156-1158)GCG>ACG	p.A386T		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	386					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						CCTGTCCCAGGCGTGCTTCAA	0.567													A	24878156	G	A	24878156	3	1	94	1	0	0	0	0	1	0	0	0	10796	1203	42	2	1166	2	NYNRIN	14	24878156	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	153727	24878156	82471384	2402	61535											
GZMB	3002	broad.mit.edu	37	chr14	25102239	25102239	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catgtaggggcgggagtgggGcttggcctcatgtcccccga	17	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:25102239G>C	uc001wps.2	-	2	151	c.85C>G	c.(85-87)CCC>GCC	p.P29A	GZMB_uc010ama.2_Missense_Mutation_p.P17A|GZMB_uc010amb.2_RNA	NM_004131	NP_004122	P10144	GRAB_HUMAN	granzyme B precursor	29	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity				0				GBM - Glioblastoma multiforme(265;0.028)		CGGGAGTGGGGCTTGGCCTCA	0.567													C	25102239	G	C	25102239	3	2	94	1	0	0	0	0	1	0	0	0	6916	1203	42	5	674	5	GZMB	14	25102239	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	224083	25102239	82247301	2403	61536											
NOVA1	4857	broad.mit.edu	37	chr14	26917784	26917784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgaagccagataaaactGctggaaaggctgcaacgcca	11	10	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:26917784G>A	uc001wpy.2	-	5	1223	c.905C>T	c.(904-906)GCA>GTA	p.A302V	NOVA1_uc001wpz.2_Missense_Mutation_p.A278V|NOVA1_uc001wqa.2_Missense_Mutation_p.A180V	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	305	Ala-rich.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5				GBM - Glioblastoma multiforme(265;0.0135)		AGATAAAACTGCTGGAAAGGC	0.473													A	26917784	G	A	26917784	3	1	94	1	0	0	0	0	1	0	0	0	10554	1319	46	2	622	2	NOVA1	14	26917784	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1815545	26917784	80431756	2404	61537											
STRN3	29966	broad.mit.edu	37	chr14	31416424	31416424	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgaccttacccgctgagaCcgtacatctaatattgtatc	6	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:31416424C>T	uc001wqu.2	-	5	804	c.588G>A	c.(586-588)CGG>CGA	p.R196R	STRN3_uc001wqv.2_Silent_p.R196R|STRN3_uc010tpj.1_RNA	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	nuclear autoantigen isoform 1	196					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CCCGCTGAGACCGTACATCTA	0.358													T	31416424	C	T	31416424	2	4	94	1	0	0	0	0	0	0	0	1	15329	494	18	4		4	STRN3	14	31416424	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4498640	31416424	75933116	2405	61538											
HECTD1	25831	broad.mit.edu	37	chr14	31575967	31575967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgttgcttaaaatttggcGcctcttgatagcaaggtctt	9	7	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:31575967G>A	uc001wrc.1	-	38	7600	c.7111C>T	c.(7111-7113)CGC>TGC	p.R2371C	HECTD1_uc001wra.1_Missense_Mutation_p.R497C|HECTD1_uc001wrb.1_Missense_Mutation_p.R497C	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	2371	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AAAATTTGGCGCCTCTTGATA	0.383													A	31575967	G	A	31575967	3	1	94	1	0	0	0	0	1	0	0	0	7039	1087	38	1	745	1	HECTD1	14	31575967	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	159543	31575967	75773573	2406	61539											
HEATR5A	25938	broad.mit.edu	37	chr14	31795515	31795515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctagtaagatcaacaatGccccctcaaggccaacttct	6	13	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:31795515G>A	uc001wrf.3	-	17	2599	c.2522C>T	c.(2521-2523)GCA>GTA	p.A841V	HEATR5A_uc010ami.2_Missense_Mutation_p.A739V|HEATR5A_uc001wrg.1_Missense_Mutation_p.A723V	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1128							binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GATCAACAATGCCCCCTCAAG	0.363													A	31795515	G	A	31795515	3	1	94	1	0	0	0	0	1	0	0	0	7031	1319	46	2	2795	2	HEATR5A	14	31795515	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	219548	31795515	75554025	2407	61540											
ARHGAP5	394	broad.mit.edu	37	chr14	32562545	32562545	+	Frame_Shift_Del	DEL	T	T	-													gttactgacagccaagcagaTttttttgaaaatgaggctat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:32562545delT	uc001wrl.2	+	2	2909	c.2670delT	c.(2668-2670)GATfs	p.D890fs	ARHGAP5_uc001wrm.2_Frame_Shift_Del_p.D890fs|ARHGAP5_uc001wrn.2_Frame_Shift_Del_p.D890fs|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	890					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GCCAAGCAGATTTTTTTGAAA	0.403													-	32562545	T	-	32562545	7	5	94	1	0	1	0	1	0	0	0	0	886	1490	52	0	2672	0	ARHGAP5	14	32562545	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	767030	32562545	74786995	2408	61541											
AKAP6	9472	broad.mit.edu	37	chr14	33015768	33015768	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctagcactgccctctcacCttaagcagacagaagtattg	7	13	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:33015768C>A	uc001wrq.2	+	4	2079	c.1909C>A	c.(1909-1911)CTT>ATT	p.L637I	AKAP6_uc010aml.2_Missense_Mutation_p.L634I	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	637					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GCCCTCTCACCTTAAGCAGAC	0.473													A	33015768	C	A	33015768	3	1	94	1	0	0	0	0	1	0	0	0	455	681	24	5	1919	5	AKAP6	14	33015768	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	453223	33015768	74333772	2409	61542											
AKAP6	9472	broad.mit.edu	37	chr14	33165210	33165210	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggcttctggactttgAttcagaatatcaggagctct	9	9	5	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:33165210A>T	uc001wrq.2	+	9	3064	c.2894A>T	c.(2893-2895)GAT>GTT	p.D965V	AKAP6_uc010aml.2_Missense_Mutation_p.D962V	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	965					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGGACTTTGATTCAGAATAT	0.408													T	33165210	A	T	33165210	3	4	94	1	0	0	0	0	1	0	0	0	455	333	12	5	2924	5	AKAP6	14	33165210	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	149442	33165210	74184330	2410	61543											
SNX6	58533	broad.mit.edu	37	chr14	35074876	35074876	+	Frame_Shift_Del	DEL	T	T	-													ccttcaccaagcttctgtagTttttcccttgaagcatcaaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:35074876delT	uc001wsf.1	-	5	362	c.354delA	c.(352-354)AAAfs	p.K118fs	SNX6_uc001wse.1_5'UTR|SNX6_uc010tpm.1_5'UTR|SNX6_uc010amm.1_5'UTR	NM_152233	NP_689419	Q9UNH7	SNX6_HUMAN	sorting nexin 6 isoform b	106	Phosphatidylinositol bisphosphate binding (By similarity).|PX.				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity				0	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		GCTTCTGTAGTTTTTCCCTTG	0.363													-	35074876	T	-	35074876	7	5	94	1	0	1	0	1	0	0	0	0	14906	1722	60	0	942	0	SNX6	14	35074876	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	1909666	35074876	72274664	2411	61544											
CFL2	1073	broad.mit.edu	37	chr14	35182699	35182701	+	In_Frame_Del	DEL	AGA	AGA	-													tttttgatctcctcttgtgtAgaagatttccttactttcat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:35182699_35182701delAGA	uc001wsg.3	-	2	211_213	c.70_72delTCT	c.(70-72)TCTdel	p.S24del	CFL2_uc010tpn.1_In_Frame_Del_p.S7del|CFL2_uc001wsh.3_In_Frame_Del_p.S24del|CFL2_uc001wsi.3_Intron|CFL2_uc001wsj.3_RNA	NM_021914	NP_068733	Q9Y281	COF2_HUMAN	cofilin 2	24	ADF-H.					cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(2)	2	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		CCTCTTGTGTAGAAGATTTCCTT	0.35													-	35182701	AGA	-	35182699	7	5	94	1	0	1	0	1	0	0	0	0	3291	407	15	0	440	0	CFL2	14	35182699	In_Frame_Del	DEL	AGA	TCGA-BR-8487-01A-11D-2394-08	107823	35182699	72166841	2412	61545											
SSTR1	6751	broad.mit.edu	37	chr14	38679608	38679608	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgctctttccaacgcatcctAtgcctcagctggatggacaa	8	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:38679608A>T	uc001wul.1	+	3	1631	c.1014A>T	c.(1012-1014)CTA>CTT	p.L338L	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	338	Cytoplasmic (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			central_nervous_system(3)|ovary(1)|lung(1)	5	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	AACGCATCCTATGCCTCAGCT	0.572													T	38679608	A	T	38679608	2	4	94	1	0	0	0	0	0	0	0	1	15196	436	16	5		5	SSTR1	14	38679608	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	3496909	38679608	68669932	2413	61546											
CLEC14A	161198	broad.mit.edu	37	chr14	38724735	38724735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacaggtagccgttggcgcGcaggtggcatcgcatctcct	14	13	1	0	rs11553024		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:38724735G>A	uc001wum.1	-	1	840	c.493C>T	c.(493-495)CGC>TGC	p.R165C		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	165	Extracellular (Potential).|C-type lectin.					integral to membrane	sugar binding			ovary(3)|skin(1)	4	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCGTTGGCGCGCAGGTGGCAT	0.577													A	38724735	G	A	38724735	3	1	94	1	0	0	0	0	1	0	0	0	3499	1087	38	1	983	1	CLEC14A	14	38724735	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	45127	38724735	68624805	2414	61547											
PNN	5411	broad.mit.edu	37	chr14	39650122	39650122	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaacatgtaattgctgaccaGgaggtaatggaaactaatcg	10	6	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:39650122G>T	uc001wuw.3	+	9	1306	c.1209G>T	c.(1207-1209)CAG>CAT	p.Q403H		NM_002687	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	403	Glu-rich.			DQ -> EE (in Ref. 3; AAG33941).	cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			ovary(1)	1	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TTGCTGACCAGGAGGTAATGG	0.323													T	39650122	G	T	39650122	3	4	94	1	0	0	0	0	1	0	0	0	12160	991	35	5	1243	5	PNN	14	39650122	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	925387	39650122	67699418	2415	61548											
PNN	5411	broad.mit.edu	37	chr14	39650888	39650888	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaagagaagggatacttcaGgactagaaagaagtcacaaa	12	5	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:39650888G>T	uc001wuw.3	+	9	2072	c.1975G>T	c.(1975-1977)GGA>TGA	p.G659*		NM_002687	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	659	Ser-rich.|Arg-rich.|Necessary for interaction with PPIG.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			ovary(1)	1	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GGATACTTCAGGACTAGAAAG	0.418													T	39650888	G	T	39650888	4	4	94	1	0	0	0	0	0	1	0	0	12160	1001	35	5	2009	5	PNN	14	39650888	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	766	39650888	67698652	2416	61549											
CTAGE5	4253	broad.mit.edu	37	chr14	39819363	39819363	+	Frame_Shift_Del	DEL	C	C	-													cccccaagacctggatttttCcccccacccccacattctga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:39819363delC	uc001wvg.3	+	24	2646	c.2310delC	c.(2308-2310)TTCfs	p.F770fs	CTAGE5_uc001wuz.3_Frame_Shift_Del_p.F758fs|CTAGE5_uc001wuy.3_Frame_Shift_Del_p.F690fs|CTAGE5_uc001wvb.3_Frame_Shift_Del_p.F698fs|CTAGE5_uc001wvc.3_Frame_Shift_Del_p.F672fs|CTAGE5_uc001wva.3_Frame_Shift_Del_p.F741fs|CTAGE5_uc001wvh.3_Frame_Shift_Del_p.F727fs|CTAGE5_uc001wvf.3_Frame_Shift_Del_p.F695fs|CTAGE5_uc001wvi.3_Frame_Shift_Del_p.F775fs|CTAGE5_uc010amz.2_Frame_Shift_Del_p.F386fs|CTAGE5_uc001wvj.3_Frame_Shift_Del_p.F741fs	NM_005930	NP_005921	O15320	CTGE5_HUMAN	CTAGE family, member 5 isoform 1	770	Pro-rich.						enzyme activator activity|protein binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		CTGGATTTTTCCCCCCACCCC	0.448													-	39819363	C	-	39819363	7	5	94	1	0	1	0	1	0	0	0	0	3994	854	30	0	2435	0	CTAGE5	14	39819363	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	168475	39819363	67530177	2417	61550											
FANCM	57697	broad.mit.edu	37	chr14	45636290	45636291	+	Frame_Shift_Del	DEL	CA	CA	-													aaattacacaaaatgttcatCacacatggtgtctatgaacc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:45636289_45636290TCA>T	uc001wwd.4	+	10	2024_2025	c.1925_1926TCA>T	c.(1924-1926)atcfs	p.I642fs	FANCM_uc001wwc.2_Frame_Shift_Del_p.I642fs|FANCM_uc010anf.3_Frame_Shift_Del_p.I616fs|FANCM_uc001wwe.4_Frame_Shift_Del_p.I178fs	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	642					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAAATGTTCATCACACATGGTG	0.381								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				-	45636291	CA	-	45636290	7	5	94	1	0	1	0	1	0	0	0	0	5671	816	29	0	1968	0	FANCM	14	45636290	Frame_Shift_Del	DEL	CA	TCGA-BR-8487-01A-11D-2394-08	5816927	45636290	61713250	2418	61551											
MDGA2	161357	broad.mit.edu	37	chr14	47311144	47311144	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggataaggtcaccttcgaGgacttaagatagagatgagg	13	6	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:47311144G>T	uc001wwj.3	-	17	3057	c.2861C>A	c.(2860-2862)CCT>CAT	p.P954H	MDGA2_uc001wwh.3_Missense_Mutation_p.P156H|MDGA2_uc001wwi.3_Missense_Mutation_p.P725H	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	954					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						TCACCTTCGAGGACTTAAGAT	0.393													T	47311144	G	T	47311144	3	4	94	1	0	0	0	0	1	0	0	0	9407	1000	35	5	13	5	MDGA2	14	47311144	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1674854	47311144	60038396	2419	61552											
TRIM9	114088	broad.mit.edu	37	chr14	51560960	51560960	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatgctgtggttctccagcTcgtggtctgtgcaggtggag	15	9	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:51560960T>C	uc001wyx.3	-	1	1463	c.698A>G	c.(697-699)GAG>GGG	p.E233G	TRIM9_uc001wyy.2_Missense_Mutation_p.E233G|TRIM9_uc001wyz.3_Missense_Mutation_p.E233G	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	233	B box-type 2.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					GTTCTCCAGCTCGTGGTCTGT	0.652													C	51560960	T	C	51560960	3	2	94	1	0	0	0	0	1	0	0	0	16546	1551	54	3	1524	3	TRIM9	14	51560960	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	4249816	51560960	55788580	2420	61553											
TRIM9	114088	broad.mit.edu	37	chr14	51561225	51561225	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtacgcgattcttggggaAgccgcggagcccccggtcat	14	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:51561225A>G	uc001wyx.3	-	1	1198	c.433T>C	c.(433-435)TTC>CTC	p.F145L	TRIM9_uc001wyy.2_Missense_Mutation_p.F145L|TRIM9_uc001wyz.3_Missense_Mutation_p.F145L	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	145					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					TTCTTGGGGAAGCCGCGGAGC	0.657													G	51561225	A	G	51561225	3	3	94	1	0	0	0	0	1	0	0	0	16546	72	3	3	1789	3	TRIM9	14	51561225	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	265	51561225	55788315	2421	61554											
FRMD6	122786	broad.mit.edu	37	chr14	52188777	52188777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaggacatgctcatgtcgCggaagctgaatggacactct	12	10	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:52188777C>T	uc001wzd.2	+	12	1756	c.1471C>T	c.(1471-1473)CGG>TGG	p.R491W	FRMD6_uc001wzb.2_Missense_Mutation_p.R483W|FRMD6_uc001wzc.2_Missense_Mutation_p.R483W|FRMD6_uc001wze.2_Missense_Mutation_p.R414W|FRMD6_uc001wzf.2_Missense_Mutation_p.R184W|FRMD6_uc001wzg.2_Missense_Mutation_p.R133W	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	491						cytoskeleton|mitochondrion|plasma membrane	binding			ovary(1)|breast(1)|central_nervous_system(1)	3	all_epithelial(31;0.0163)|Breast(41;0.089)					GCTCATGTCGCGGAAGCTGAA	0.488													T	52188777	C	T	52188777	3	4	94	1	0	0	0	0	1	0	0	0	6054	759	27	1	1489	1	FRMD6	14	52188777	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	627552	52188777	55160763	2422	61555											
FERMT2	10979	broad.mit.edu	37	chr14	53360082	53360082	+	Frame_Shift_Del	DEL	T	T	-													actggtcatctagcttcttcTtttttttctttgttggatct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:53360082delT	uc001xad.2	-	4	510	c.455delA	c.(454-456)AAGfs	p.K152fs	FERMT2_uc001xac.2_Frame_Shift_Del_p.K152fs|FERMT2_uc001xae.2_Frame_Shift_Del_p.K152fs|FERMT2_uc001xaf.2_Frame_Shift_Del_p.K152fs	NM_006832	NP_006823	Q96AC1	FERM2_HUMAN	fermitin family homolog 2 isoform 1	152					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding				0	Breast(41;0.0342)					TAGCTTCTTCTTTTTTTTCTT	0.383													-	53360082	T	-	53360082	7	5	94	1	0	1	0	1	0	0	0	0	5818	1609	56	0	1672	0	FERMT2	14	53360082	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	1171305	53360082	53989458	2423	61556											
FBXO34	55030	broad.mit.edu	37	chr14	55819058	55819058	+	Frame_Shift_Del	DEL	C	C	-													gtgtccctgtgccgatggcaCcccaagccctattgccaggc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:55819057_55819057AC>A	uc021rtk.1	+	0	1949	c.1949_1949AC>A	c.(1948-1950)cacfs	p.H650fs	FBXO34_uc001xbv.3_Non-coding_Transcript|FBXO34_uc001xbu.3_Frame_Shift_Del_p.H650fs|FBXO34_uc010aoo.3_Frame_Shift_Del_p.H650fs	NM_152231	NP_689417	Q9NWN3	FBX34_HUMAN	Homo sapiens F-box protein 34 (FBXO34), transcript variant 2, mRNA.	650										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TGCCGATGGCACCCCAAGCCC	0.542													-	55819058	C	-	55819058	7	5	94	1	0	1	0	1	0	0	0	0	5744	506	18	0	1952	0	FBXO34	14	55819058	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	2458976	55819058	51530482	2424	61557											
SLC35F4	341880	broad.mit.edu	37	chr14	58033243	58033243	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatggagattaggattgggTatgtcagcaccaccccaaca	10	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:58033243T>C	uc001xdb.1	-	7	1274	c.1274A>G	c.(1273-1275)TAC>TGC	p.Y425C	SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Missense_Mutation_p.Y266C	NM_001080455	NP_001073924			solute carrier family 35, member F4											ovary(2)	2						TAGGATTGGGTATGTCAGCAC	0.468													C	58033243	T	C	58033243	3	2	94	1	0	0	0	0	1	0	0	0	14591	1638	57	3	299	3	SLC35F4	14	58033243	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2214185	58033243	49316297	2425	61558											
DHRS7	51635	broad.mit.edu	37	chr14	60622738	60622739	+	Frame_Shift_Ins	INS	-	-	T													taggcatcttcttttcacccINStttccagctcatgcactctt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:60622738_60622739insT	uc001xes.2	-	2	449_450	c.265_266insA	c.(265-267)AGGfs	p.R89fs	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Frame_Shift_Ins_p.R39fs|DHRS7_uc001xeu.2_Frame_Shift_Ins_p.R89fs	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	89							binding|oxidoreductase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TCTTTTCACCCTTTCCAGCTCA	0.46													T	60622739	-	T	60622738	7	5	94	1	0	1	1	0	0	0	0	0	4495	681	24	0	777	0	DHRS7	14	60622738	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	2589495	60622738	46726802	2426	61559	290	2									
DHRS7	51635	broad.mit.edu	37	chr14	60622739	60622740	+	Frame_Shift_Ins	INS	-	-	T													aggcatcttcttttcaccctINSttccagctcatgcactcttc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:60622738_60622739C>CT	uc001xes.3	-	1	449_450	c.265_266G>AG	c.(265-267)aggfs	p.R89fs	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.3_Frame_Shift_Ins_p.R39fs	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7 (DHRS7), mRNA.	89							binding|oxidoreductase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TCTTTTCACCCTTTCCAGCTCA	0.46													T	60622740	-	T	60622739	7	5	94	1	0	1	1	0	0	0	0	0	4495	1608	56	0	778	0	DHRS7	14	60622739	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	60622739	46726801	2427	61560	290	2									
SLC38A6	145389	broad.mit.edu	37	chr14	61451485	61451485	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctctcctggcttcttacTcagtccatcttctgcttagt	6	13	5	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:61451485T>C	uc001xfg.1	+	3	390	c.274T>C	c.(274-276)TCA>CCA	p.S92P	SLC38A6_uc001xfh.1_Missense_Mutation_p.S92P|SLC38A6_uc001xfi.2_RNA|SLC38A6_uc001xfj.1_RNA|SLC38A6_uc001xfk.2_RNA|SLC38A6_uc010trz.1_Missense_Mutation_p.S69P	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	92	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		GGCTTCTTACTCAGTCCATCT	0.378													C	61451485	T	C	61451485	3	2	94	1	0	0	0	0	1	0	0	0	14608	1551	54	3	284	3	SLC38A6	14	61451485	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	828746	61451485	45898055	2428	61561											
SNAPC1	6617	broad.mit.edu	37	chr14	62242911	62242912	+	Frame_Shift_Ins	INS	-	-	T													tcagcttgataaaggatgatINSttttttgacaatattaagaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:62242910_62242911A>AT	uc001xft.3	+	4	736_737	c.632_633A>AT	c.(631-633)gatfs	p.D211fs		NM_003082	NP_003073	Q16533	SNPC1_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 1, 43kDa (SNAPC1), mRNA.	211	SNAPC4-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.D214fs*1(2)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		ATAAAGGATGATTTTTTTGACA	0.356													T	62242912	-	T	62242911	7	5	94	1	0	1	1	0	0	0	0	0	14834	1490	52	0	651	0	SNAPC1	14	62242911	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	791426	62242911	45106629	2429	61562											
KCNH5	27133	broad.mit.edu	37	chr14	63417232	63417232	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctagccacacggcccagtcGtaagagacgcaccactttta	8	15	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:63417232G>A	uc001xfx.2	-	7	1039	c.988C>T	c.(988-990)CGA>TGA	p.R330*	KCNH5_uc001xfy.2_Nonsense_Mutation_p.R330*|KCNH5_uc001xfz.1_Nonsense_Mutation_p.R272*|KCNH5_uc001xga.2_Nonsense_Mutation_p.R272*	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	330	Helical; Voltage-sensor; Name=Segment S4; (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGGCCCAGTCGTAAGAGACGC	0.448													A	63417232	G	A	63417232	4	1	94	1	0	0	0	0	0	1	0	0	8035	1153	40	1	2032	1	KCNH5	14	63417232	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1174321	63417232	43932308	2430	61563											
SYNE2	23224	broad.mit.edu	37	chr14	64596551	64596551	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgccgagagccgagtggccAaactaagagatgaaggggag	16	8	0	3	rs143798878		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:64596551A>G	uc001xgm.2	+	75	14301	c.14071A>G	c.(14071-14073)AAA>GAA	p.K4691E	SYNE2_uc001xgl.2_Missense_Mutation_p.K4691E|SYNE2_uc010apy.2_Missense_Mutation_p.K1076E|SYNE2_uc010apz.1_Missense_Mutation_p.K583E	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4691	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCGAGTGGCCAAACTAAGAGA	0.443													G	64596551	A	G	64596551	3	3	94	1	0	0	0	0	1	0	0	0	15443	131	5	3	14365	3	SYNE2	14	64596551	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1179319	64596551	42752989	2431	61564											
SYNE2	23224	broad.mit.edu	37	chr14	64675598	64675598	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagtgtgactcgatccagcaGaccaccaggagcctggacag	13	12	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:64675598G>A	uc001xgm.2	+	101	18554	c.18324G>A	c.(18322-18324)CAG>CAA	p.Q6108Q	SYNE2_uc001xgl.2_Silent_p.Q6108Q|SYNE2_uc010apy.2_Silent_p.Q2493Q|SYNE2_uc001xgn.2_Silent_p.Q1070Q|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Silent_p.Q78Q|SYNE2_uc001xgq.2_Silent_p.Q473Q|SYNE2_uc001xgr.2_5'Flank	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6108	Cytoplasmic (Potential).|Spectrin 6.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CGATCCAGCAGACCACCAGGA	0.557													A	64675598	G	A	64675598	2	1	94	1	0	0	0	0	0	0	0	1	15443	933	33	4		4	SYNE2	14	64675598	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	79047	64675598	42673942	2432	61565											
HSPA2	3306	broad.mit.edu	37	chr14	65008542	65008542	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtggagaaggcgctgcgCgacgccaagctggacaaggg	18	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:65008542C>T	uc001xhj.2	+	2	1051	c.975C>T	c.(973-975)CGC>CGT	p.R325R	HSPA2_uc001xhk.3_Silent_p.R325R	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	325					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)		AGGCGCTGCGCGACGCCAAGC	0.627													T	65008542	C	T	65008542	2	4	94	1	0	0	0	0	0	0	0	1	7411	755	27	1		1	HSPA2	14	65008542	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	332944	65008542	42340998	2433	61566											
PLEKHG3	26030	broad.mit.edu	37	chr14	65209941	65209941	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctccaagtatgcctcccgCgatgaggcacgccgagcagg	13	14	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:65209941C>T	uc001xho.1	+	17	3449	c.3180C>T	c.(3178-3180)CGC>CGT	p.R1060R	PLEKHG3_uc001xhn.1_Silent_p.R1004R|PLEKHG3_uc001xhp.2_Silent_p.R1181R|PLEKHG3_uc010aqh.1_Silent_p.R602R|PLEKHG3_uc001xhq.1_Silent_p.R565R	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	1060					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		ATGCCTCCCGCGATGAGGCAC	0.612													T	65209941	C	T	65209941	2	4	94	1	0	0	0	0	0	0	0	1	12070	755	27	1		1	PLEKHG3	14	65209941	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	201399	65209941	42139599	2434	61567											
SPTB	6710	broad.mit.edu	37	chr14	65260266	65260266	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcccaaactgcttgcgCgcaaccatgccatgagcctc	11	15	0	1	rs142550439	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:65260266C>T	uc001xht.2	-	13	2169	c.2115G>A	c.(2113-2115)GCG>GCA	p.A705A	SPTB_uc001xhr.2_Silent_p.A705A|SPTB_uc001xhs.2_Silent_p.A705A|SPTB_uc001xhu.2_Silent_p.A705A	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	705	Spectrin 4.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACTGCTTGCGCGCAACCATGC	0.592													T	65260266	C	T	65260266	2	4	94	1	0	0	0	0	0	0	0	1	15117	755	27	1		1	SPTB	14	65260266	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	50325	65260266	42089274	2435	61568											
TMEM229B	161145	broad.mit.edu	37	chr14	67940463	67940463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaggtacatgcgctccaCgatgaggatggaggtgccgt	15	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:67940463C>T	uc001xjk.2	-	3	588	c.178G>A	c.(178-180)GTG>ATG	p.V60M	TMEM229B_uc001xjj.1_RNA	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	60	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1						ATGCGCTCCACGATGAGGATG	0.632													T	67940463	C	T	67940463	3	4	94	1	0	0	0	0	1	0	0	0	16145	536	19	1	329	1	TMEM229B	14	67940463	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2680197	67940463	39409077	2436	61569											
PLEKHH1	57475	broad.mit.edu	37	chr14	68046484	68046484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgatgagttcctccagcGgctgaaccaggagataggca	14	9	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:68046484G>A	uc001xjl.1	+	22	3216	c.3074G>A	c.(3073-3075)CGG>CAG	p.R1025Q	PLEKHH1_uc010tsw.1_Missense_Mutation_p.R593Q|PLEKHH1_uc001xjn.1_Missense_Mutation_p.R540Q|PLEKHH1_uc010tsx.1_5'UTR|PLEKHH1_uc001xjo.1_5'Flank|PLEKHH1_uc001xjp.1_5'Flank	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	1025	FERM.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TTCCTCCAGCGGCTGAACCAG	0.587													A	68046484	G	A	68046484	3	1	94	1	0	0	0	0	1	0	0	0	12076	1116	39	1	3156	1	PLEKHH1	14	68046484	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	106021	68046484	39303056	2437	61570											
ZFYVE26	23503	broad.mit.edu	37	chr14	68251918	68251918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagctgagtctggatctgCacagggtgggcctctgcctc	15	11	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:68251918C>T	uc001xka.2	-	19	3520	c.3381G>A	c.(3379-3381)GTG>GTA	p.V1127V	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.V1127V	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1127					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCTGGATCTGCACAGGGTGGG	0.587													T	68251918	C	T	68251918	2	4	94	1	0	0	0	0	0	0	0	1	17665	697	25	2		2	ZFYVE26	14	68251918	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	205434	68251918	39097622	2438	61571											
SFRS5	6430	broad.mit.edu	37	chr14	70237973	70237973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtctcgtagccgatcccGttcccgtagtcgcaaatctt	9	13	2	0	rs141668513		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:70237973G>A	uc001xll.2	+	9	2065	c.614G>A	c.(613-615)CGT>CAT	p.R205H	SFRS5_uc001xlm.2_RNA|SFRS5_uc001xlo.2_Missense_Mutation_p.R205H|SFRS5_uc001xlp.2_Missense_Mutation_p.R205H|SFRS5_uc001xlq.2_Missense_Mutation_p.R202H	NM_006925	NP_008856	Q13243	SRSF5_HUMAN	splicing factor, arginine/serine-rich 5	205	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding				0				all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154)		AGCCGATCCCGTTCCCGTAGT	0.527													A	70237973	G	A	70237973	3	1	94	1	0	0	0	0	1	0	0	0	14180	1145	40	1	640	1	SFRS5	14	70237973	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1986055	70237973	37111567	2439	61572											
SMOC1	64093	broad.mit.edu	37	chr14	70459178	70459178	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatggagacccagccggtgTtcgatggagatggtaagatc	15	8	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:70459178T>C	uc001xls.1	+	6	824	c.571T>C	c.(571-573)TTC>CTC	p.F191L	SMOC1_uc001xlt.1_Missense_Mutation_p.F191L	NM_022137	NP_071420	Q9H4F8	SMOC1_HUMAN	secreted modular calcium-binding protein 1	191					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			upper_aerodigestive_tract(1)|pancreas(1)	2				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCAGCCGGTGTTCGATGGAGA	0.418													C	70459178	T	C	70459178	3	2	94	1	0	0	0	0	1	0	0	0	14801	1725	60	3	593	3	SMOC1	14	70459178	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	221205	70459178	36890362	2440	61573											
SMOC1	64093	broad.mit.edu	37	chr14	70477655	70477655	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcgcccgctgcctgggacCtccacacggtaagcccccca	12	19	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:70477655C>A	uc001xls.1	+	8	1102	c.849C>A	c.(847-849)ACC>ACA	p.T283T	SMOC1_uc001xlt.1_Silent_p.T283T	NM_022137	NP_071420	Q9H4F8	SMOC1_HUMAN	secreted modular calcium-binding protein 1	283	Thyroglobulin type-1 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			upper_aerodigestive_tract(1)|pancreas(1)	2				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		TGCCTGGGACCTCCACACGGT	0.622													A	70477655	C	A	70477655	2	1	94	1	0	0	0	0	0	0	0	1	14801	668	24	5		5	SMOC1	14	70477655	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	18477	70477655	36871885	2441	61574											
PCNX	22990	broad.mit.edu	37	chr14	71570119	71570119	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctggttttcaggtgaataAggaatgtgtccgaggtcttt	12	5	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:71570119A>G	uc001xmo.2	+	32	6274	c.5828A>G	c.(5827-5829)AAG>AGG	p.K1943R	PCNX_uc010are.1_Missense_Mutation_p.K1832R|PCNX_uc010arf.1_Missense_Mutation_p.K731R|PCNX_uc001xmp.2_Missense_Mutation_p.K27R	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1943						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGGTGAATAAGGAATGTGTC	0.438													G	71570119	A	G	71570119	3	3	94	1	0	0	0	0	1	0	0	0	11591	72	3	3	5954	3	PCNX	14	71570119	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1092464	71570119	35779421	2442	61575											
SIPA1L1	26037	broad.mit.edu	37	chr14	72190597	72190597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgtgggatttatggacaCgagaaagtaagagttacttt	11	6	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:72190597C>T	uc001xms.2	+	16	4853	c.4505C>T	c.(4504-4506)ACG>ATG	p.T1502M	SIPA1L1_uc001xmt.2_Missense_Mutation_p.T1481M|SIPA1L1_uc001xmu.2_Missense_Mutation_p.T1481M|SIPA1L1_uc001xmv.2_Missense_Mutation_p.T1502M|SIPA1L1_uc010ttm.1_Missense_Mutation_p.T956M|SIPA1L1_uc001xmw.2_Missense_Mutation_p.T267M	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1502					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTTATGGACACGAGAAAGTAA	0.468													T	72190597	C	T	72190597	3	4	94	1	0	0	0	0	1	0	0	0	14329	536	19	1	4563	1	SIPA1L1	14	72190597	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	620478	72190597	35158943	2443	61576											
ZFYVE1	53349	broad.mit.edu	37	chr14	73437631	73437631	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgcagttgaagcagactcGgacgggatggtcccagccac	13	11	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:73437631G>A	uc001xnm.2	-	12	2933	c.2293C>T	c.(2293-2295)CGA>TGA	p.R765*	ZFYVE1_uc001xnl.2_Nonsense_Mutation_p.R350*|ZFYVE1_uc010arj.2_Nonsense_Mutation_p.R751*	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1 isoform 1	765	FYVE-type 2.					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			skin(1)	1		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AAGCAGACTCGGACGGGATGG	0.582													A	73437631	G	A	73437631	4	1	94	1	0	0	0	0	0	1	0	0	17660	1124	39	1	44	1	ZFYVE1	14	73437631	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1247034	73437631	33911909	2444	61577											
PAPLN	89932	broad.mit.edu	37	chr14	73718770	73718770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgcactatgagtaccaCctgcccctgcgccgccccag	11	17	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:73718770C>T	uc010ttx.1	+	9	1051	c.888C>T	c.(886-888)CAC>CAT	p.H296H	PAPLN_uc001xnw.3_Silent_p.H269H|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.H296H	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	296						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		ATGAGTACCACCTGCCCCTGC	0.682													T	73718770	C	T	73718770	2	4	94	1	0	0	0	0	0	0	0	1	11428	506	18	4		4	PAPLN	14	73718770	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	281139	73718770	33630770	2445	61578											
PAPLN	89932	broad.mit.edu	37	chr14	73726214	73726214	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacggcatctctcgggcctcAgtggcaaggctgccctgggg	15	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:73726214A>G	uc010ttx.1	+	15	2109	c.1946A>G	c.(1945-1947)CAG>CGG	p.Q649R	PAPLN_uc001xnw.3_Missense_Mutation_p.Q622R|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.Q649R|PAPLN_uc010arm.2_5'Flank|PAPLN_uc010arn.2_5'Flank	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	649						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CTCGGGCCTCAGTGGCAAGGC	0.682													G	73726214	A	G	73726214	3	3	94	1	0	0	0	0	1	0	0	0	11428	188	7	3	1919	3	PAPLN	14	73726214	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	7444	73726214	33623326	2446	61579											
PNMA1	9240	broad.mit.edu	37	chr14	74179976	74179976	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtagggttctgaaacccaaGgacacgggcaacatcttgca	11	10	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:74179976G>T	uc001xor.1	-	1	1153	c.367C>A	c.(367-369)CTT>ATT	p.L123I		NM_006029	NP_006020	Q8ND90	PNMA1_HUMAN	paraneoplastic antigen MA1	123					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		tgaaacccaaggacacgggca	0													T	74179976	G	T	74179976	3	4	94	1	0	0	0	0	1	0	0	0	12153	1000	35	5	698	5	PNMA1	14	74179976	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	453762	74179976	33169564	2447	61580											
COQ6	51004	broad.mit.edu	37	chr14	74417141	74417141	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctcaacagacaccgtgTatgacgtggtggtgtcgggt	15	10	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:74417141T>C	uc001xph.2	+	1	186	c.106T>C	c.(106-108)TAT>CAT	p.Y36H	FAM161B_uc001xpd.1_5'Flank|COQ6_uc001xpe.2_Intron|COQ6_uc001xpf.2_Intron|COQ6_uc010tuk.1_Intron|COQ6_uc010tul.1_5'UTR|COQ6_uc010tum.1_Missense_Mutation_p.Y36H|COQ6_uc010tun.1_5'UTR|COQ6_uc001xpg.2_Missense_Mutation_p.Y36H	NM_182476	NP_872282	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 homolog isoform a	36					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen				0				BRCA - Breast invasive adenocarcinoma(234;0.00337)		AGACACCGTGTATGACGTGGT	0.697													C	74417141	T	C	74417141	3	2	94	1	0	0	0	0	1	0	0	0	3749	1638	57	3	108	3	COQ6	14	74417141	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	237165	74417141	32932399	2448	61581											
VSX2	338917	broad.mit.edu	37	chr14	74726415	74726415	+	Frame_Shift_Del	DEL	C	C	-													gccatggtgcggcactccatCcccctgcccgagtccatcct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:74726415delC	uc001xpq.2	+	4	780	c.690delC	c.(688-690)ATCfs	p.I230fs		NM_182894	NP_878314	P58304	VSX2_HUMAN	visual system homeobox 2	230	CVC.				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GGCACTCCATCCCCCTGCCCG	0.642													-	74726415	C	-	74726415	7	5	94	1	0	1	0	1	0	0	0	0	17229	845	30	0	704	0	VSX2	14	74726415	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	309274	74726415	32623125	2449	61582											
C14orf115	55237	broad.mit.edu	37	chr14	74823989	74823989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggcctcctgtttccccaGcagcttctccaacgtgtggc	9	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:74823989G>A	uc001xpw.3	+	2	694	c.503G>A	c.(502-504)AGC>AAC	p.S168N		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	168					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		TGTTTCCCCAGCAGCTTCTCC	0.597													A	74823989	G	A	74823989	3	1	94	1	0	0	0	0	1	0	0	0	1740	971	34	2	505	2	C14orf115	14	74823989	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	97574	74823989	32525551	2450	61583											
MLH3	27030	broad.mit.edu	37	chr14	75515058	75515058	+	Frame_Shift_Del	DEL	T	T	-													acaaaaatgcatcatttgtaTtttttctggtagcttctgaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:75515057_75515057AT>A	uc001xrd.1	-	1	1518	c.1302_1302AT>T	c.(1300-1302)aatfs	p.N434fs	MLH3_uc001xre.1_Frame_Shift_Del_p.N434fs|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	434					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CATCATTTGTATTTTTTCTGG	0.363								Mismatch excision repair (MMR)					-	75515058	T	-	75515058	7	5	94	1	0	1	0	1	0	0	0	0	9618	1493	52	0	3108	0	MLH3	14	75515058	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	691069	75515058	31834482	2451	61584											
FLVCR2	55640	broad.mit.edu	37	chr14	76108206	76108206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattcattaaggcagatctcCggagacagaaagcaaacaaa	8	9	2	3	rs139495418		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:76108206C>T	uc001xrs.2	+	9	1850	c.1474C>T	c.(1474-1476)CGG>TGG	p.R492W	FLVCR2_uc010tvd.1_Missense_Mutation_p.R287W	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular	492					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity				0				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGCAGATCTCCGGAGACAGAA	0.433													T	76108206	C	T	76108206	3	4	94	1	0	0	0	0	1	0	0	0	5946	643	23	1	1508	1	FLVCR2	14	76108206	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	593148	76108206	31241334	2452	61585											
TGFB3	7043	broad.mit.edu	37	chr14	76427394	76427394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtcaatgtagagggggcGcacacagcagttctcctcca	12	11	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:76427394G>A	uc001xsc.2	-	6	1808	c.952C>T	c.(952-954)CGC>TGC	p.R318C		NM_003239	NP_003230	P10600	TGFB3_HUMAN	transforming growth factor, beta 3 precursor	318					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0169)		TAGAGGGGGCGCACACAGCAG	0.448													A	76427394	G	A	76427394	3	1	94	1	0	0	0	0	1	0	0	0	15816	1087	38	1	294	1	TGFB3	14	76427394	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	319188	76427394	30922146	2453	61586											
TGFB3	7043	broad.mit.edu	37	chr14	76437525	76437525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaaaggacagccactcgGcagtgccccgtgtgggcaga	13	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:76437525G>A	uc001xsc.2	-	3	1446	c.590C>T	c.(589-591)GCC>GTC	p.A197V	TGFB3_uc001xsd.2_Missense_Mutation_p.A195V	NM_003239	NP_003230	P10600	TGFB3_HUMAN	transforming growth factor, beta 3 precursor	197					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0169)		CAGCCACTCGGCAGTGCCCCG	0.527													A	76437525	G	A	76437525	3	1	94	1	0	0	0	0	1	0	0	0	15816	1203	42	2	668	2	TGFB3	14	76437525	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	10131	76437525	30912015	2454	61587											
ANGEL1	23357	broad.mit.edu	37	chr14	77275933	77275933	+	Frame_Shift_Del	DEL	G	G	-													ggcaaagtcgccctctacctGgggggatgagctgttcgcca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:77275933delG	uc001xsv.2	-	2	231	c.118delC	c.(118-120)CAGfs	p.Q40fs	ANGEL1_uc010tvf.1_Frame_Shift_Del_p.Q40fs	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	angel homolog 1	40										ovary(2)|central_nervous_system(1)|skin(1)	4			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CCCTCTACCTGGGGGGATGAG	0.552													-	77275933	G	-	77275933	7	5	94	1	0	1	0	1	0	0	0	0	608	1357	47	0	1930	0	ANGEL1	14	77275933	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	838408	77275933	30073607	2455	61588											
ISM2	145501	broad.mit.edu	37	chr14	77942189	77942189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatagcagcagtgctgggCggccagtgtgctgctctccc	14	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:77942189C>T	uc001xtz.2	-	7	1539	c.1465G>A	c.(1465-1467)GCC>ACC	p.A489T	ISM2_uc001xua.2_3'UTR|ISM2_uc001xty.2_Missense_Mutation_p.A401T|ISM2_uc010tvl.1_Missense_Mutation_p.A408T	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	isthmin 2 homolog isoform 1	489	AMOP.					extracellular region				skin(1)	1						CAGTGCTGGGCGGCCAGTGTG	0.662													T	77942189	C	T	77942189	3	4	94	1	0	0	0	0	1	0	0	0	7861	768	27	1	254	1	ISM2	14	77942189	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	666256	77942189	29407351	2456	61589											
PTPN21	11099	broad.mit.edu	37	chr14	88946100	88946100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccggtacacctgcgtccGcatgatgttgggagacgggt	16	10	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:88946100G>A	uc001xwv.3	-	13	2006	c.1675C>T	c.(1675-1677)CGG>TGG	p.R559W	PTPN21_uc010twc.1_Missense_Mutation_p.R355W	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	559						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						ACCTGCGTCCGCATGATGTTG	0.701													A	88946100	G	A	88946100	3	1	94	1	0	0	0	0	1	0	0	0	12786	1086	38	1	1877	1	PTPN21	14	88946100	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	11003911	88946100	18403440	2457	61590											
ZC3H14	79882	broad.mit.edu	37	chr14	89044473	89044473	+	Frame_Shift_Del	DEL	A	A	-													aacaaaaggagattctgtagAaaaaaatcaaggtaataact							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:89044472_89044472GA>G	uc001xww.3	+	8	1492	c.1267_1267GA>G	c.(1267-1269)gaafs	p.E423fs	ZC3H14_uc010twd.2_Frame_Shift_Del_p.E423fs|ZC3H14_uc010twe.2_Frame_Shift_Del_p.E423fs|ZC3H14_uc001xwx.3_Frame_Shift_Del_p.E423fs|ZC3H14_uc010twf.2_Frame_Shift_Del_p.E268fs|ZC3H14_uc001xwy.3_Frame_Shift_Del_p.E389fs|ZC3H14_uc010twg.2_Frame_Shift_Del_p.E268fs|ZC3H14_uc001xxa.3_5'UTR	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA.	423						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						AGATTCTGTAGAAAAAAATCA	0.343													-	89044473	A	-	89044473	7	5	94	1	0	1	0	1	0	0	0	0	17563	246	9	0	1302	0	ZC3H14	14	89044473	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	98373	89044473	18305067	2458	61591											
KCNK13	56659	broad.mit.edu	37	chr14	90650906	90650906	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctatcgctttgccaacttCgtcttcatcctcatgggtgt	7	13	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:90650906C>T	uc001xye.1	+	2	1228	c.786C>T	c.(784-786)TTC>TTT	p.F262F		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	262						integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				TTGCCAACTTCGTCTTCATCC	0.493													T	90650906	C	T	90650906	2	4	94	1	0	0	0	0	0	0	0	1	8061	883	31	1		1	KCNK13	14	90650906	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1606433	90650906	16698634	2459	61592											
C14orf102	55051	broad.mit.edu	37	chr14	90755331	90755331	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacttttctggcatcctcCgtgttgccaagcaaccactc	6	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:90755331C>T	uc001xyi.1	-	11	2419	c.2388G>A	c.(2386-2388)ACG>ACA	p.T796T	C14orf102_uc010atp.1_Silent_p.T301T|C14orf102_uc001xyj.1_Silent_p.T565T|C14orf102_uc001xyk.1_5'UTR	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	796							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		TGGCATCCTCCGTGTTGCCAA	0.483													T	90755331	C	T	90755331	2	4	94	1	0	0	0	0	0	0	0	1	1735	639	23	1		1	C14orf102	14	90755331	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	104425	90755331	16594209	2460	61593											
C14orf102	55051	broad.mit.edu	37	chr14	90759111	90759111	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggcgccagggccgccagTgcctctggtcacgggaacgc	16	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:90759111T>G	uc001xyi.1	-	9	1803	c.1772A>C	c.(1771-1773)CAC>CCC	p.H591P	C14orf102_uc010atp.1_Missense_Mutation_p.H96P|C14orf102_uc001xyj.1_Missense_Mutation_p.H360P	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	591							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		GGGCCGCCAGTGCCTCTGGTC	0.567													G	90759111	T	G	90759111	3	3	94	1	0	0	0	0	1	0	0	0	1735	1696	59	5	1746	5	C14orf102	14	90759111	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	3780	90759111	16590429	2461	61594											
CCDC88C	440193	broad.mit.edu	37	chr14	91806344	91806344	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccagccactgcaggtcaaAcacgttctcttggttgtgag	10	12	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:91806344A>G	uc010aty.2	-	7	607	c.508T>C	c.(508-510)TTT>CTT	p.F170L	CCDC88C_uc010twk.1_Missense_Mutation_p.F134L	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	170					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				TGCAGGTCAAACACGTTCTCT	0.647													G	91806344	A	G	91806344	3	3	94	1	0	0	0	0	1	0	0	0	2865	43	2	3	5674	3	CCDC88C	14	91806344	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1047233	91806344	15543196	2462	61595											
BTBD7	55727	broad.mit.edu	37	chr14	93717918	93717918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattattgaccatgtagagCgtgtctggcacattggacat	11	8	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:93717918C>T	uc001ybo.2	-	8	2159	c.1833G>A	c.(1831-1833)ACG>ACA	p.T611T	BTBD7_uc010aur.2_Silent_p.T136T|BTBD7_uc010two.1_Silent_p.T431T|BTBD7_uc001ybp.2_Silent_p.T260T	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	611										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CCATGTAGAGCGTGTCTGGCA	0.478													T	93717918	C	T	93717918	2	4	94	1	0	0	0	0	0	0	0	1	1546	755	27	1		1	BTBD7	14	93717918	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1911574	93717918	13631622	2463	61596											
PPP4R4	57718	broad.mit.edu	37	chr14	94722808	94722808	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttattgtagaatgaaactttGctacctgttgcccaaagtga	8	7	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:94722808G>T	uc001ycs.1	+	17	2031	c.1877G>T	c.(1876-1878)TGC>TTC	p.C626F		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	626						cytoplasm|protein serine/threonine phosphatase complex	protein binding			skin(3)|upper_aerodigestive_tract(1)	4						ATGAAACTTTGCTACCTGTTG	0.333													T	94722808	G	T	94722808	3	4	94	1	0	0	0	0	1	0	0	0	12405	1319	46	5	2016	5	PPP4R4	14	94722808	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1004890	94722808	12626732	2464	61597											
SERPINA11	256394	broad.mit.edu	37	chr14	94909415	94909415	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccatgttcaccactttacCttggagatggttttgttgag	9	8	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:94909415C>A	uc001ydd.1	-	4	1125	c.1065G>T	c.(1063-1065)AAG>AAT	p.K355N		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1	355					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)	1				COAD - Colon adenocarcinoma(157;0.211)		ACCACTTTACCTTGGAGATGG	0.463													A	94909415	C	A	94909415	3	1	94	1	0	0	0	0	1	0	0	0	14088	695	24	5	211	5	SERPINA11	14	94909415	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	186607	94909415	12440125	2465	61598											
SERPINA4	5267	broad.mit.edu	37	chr14	95030431	95030431	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagtgagctcaagaaggaCgtcttgatggtgctggtgaa	15	6	3	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:95030431C>T	uc001ydk.2	+	2	678	c.612C>T	c.(610-612)GAC>GAT	p.D204D	SERPINA4_uc010avd.2_Silent_p.D241D|SERPINA4_uc001ydl.2_Silent_p.D204D	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	204					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)|skin(1)	4				COAD - Colon adenocarcinoma(157;0.211)		TCAAGAAGGACGTCTTGATGG	0.453													T	95030431	C	T	95030431	2	4	94	1	0	0	0	0	0	0	0	1	14091	535	19	1		1	SERPINA4	14	95030431	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	121016	95030431	12319109	2466	61599											
DICER1	23405	broad.mit.edu	37	chr14	95599742	95599742	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccattggtgaggaagcaggGgtcatgagctgcaggcctgc	16	10	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:95599742G>T	uc001ydw.2	-	3	236	c.54C>A	c.(52-54)ACC>ACA	p.T18T	DICER1_uc001ydv.2_Silent_p.T8T|DICER1_uc001ydx.2_Silent_p.T18T|DICER1_uc001ydz.1_RNA|DICER1_uc001yea.1_RNA|DICER1_uc001yeb.1_RNA|DICER1_uc001yec.1_RNA	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	18					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AGGAAGCAGGGGTCATGAGCT	0.448			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				T	95599742	G	T	95599742	2	4	94	1	0	0	0	0	0	0	0	1	4521	1219	43	5		5	DICER1	14	95599742	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	569311	95599742	11749798	2467	61600											
ATG2B	55102	broad.mit.edu	37	chr14	96781919	96781919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatcactccattcactatGcctagagatccacattgagg	7	11	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:96781919G>A	uc001yfi.2	-	22	3728	c.3363C>T	c.(3361-3363)GGC>GGT	p.G1121G		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	1121										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CATTCACTATGCCTAGAGATC	0.408													A	96781919	G	A	96781919	2	1	94	1	0	0	0	0	0	0	0	1	1094	1333	46	2		2	ATG2B	14	96781919	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1182177	96781919	10567621	2468	61601											
EML1	2009	broad.mit.edu	37	chr14	100377764	100377764	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttggtgtgtttaggtacaAatcgaataagctatgcagtt	10	5	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:100377764A>G	uc001ygs.2	+	13	1414	c.1345A>G	c.(1345-1347)AAT>GAT	p.N449D	EML1_uc010tww.1_Missense_Mutation_p.N437D|EML1_uc001ygq.2_Missense_Mutation_p.N468D|EML1_uc001ygr.2_Missense_Mutation_p.N468D	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	449	WD 4.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTTAGGTACAAATCGAATAAG	0.438													G	100377764	A	G	100377764	3	3	94	1	0	0	0	0	1	0	0	0	5096	14	1	3	1456	3	EML1	14	100377764	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	3595845	100377764	6971776	2469	61602											
WARS	7453	broad.mit.edu	37	chr14	100803446	100803446	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcgaggaagaaggtcaGgtacatgaaagacacgtcca	12	9	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:100803446G>T	uc001yhf.1	-	9	1291	c.1207C>A	c.(1207-1209)CTG>ATG	p.L403M	WARS_uc001yhe.1_Missense_Mutation_p.L209M|WARS_uc001yhg.1_Missense_Mutation_p.L403M|WARS_uc001yhh.1_Missense_Mutation_p.L403M|WARS_uc001yhi.1_Missense_Mutation_p.L362M|WARS_uc001yhj.1_Missense_Mutation_p.L362M|WARS_uc001yhk.1_Missense_Mutation_p.L362M|WARS_uc001yhl.1_Missense_Mutation_p.L403M	NM_173701	NP_776049	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase isoform a	403					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(1)	1		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	AAGAAGGTCAGGTACATGAAA	0.582													T	100803446	G	T	100803446	3	4	94	1	0	0	0	0	1	0	0	0	17246	991	35	5	216	5	WARS	14	100803446	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	425682	100803446	6546094	2470	61603											
RTL1	388015	broad.mit.edu	37	chr14	101347477	101347477	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagctccaggtagcggtTctgacgcagggcagggaggt	18	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:101347477T>C	uc010txj.1	-	1	3708	c.3649A>G	c.(3649-3651)AAC>GAC	p.N1217D	MIR433_hsa-mir-433|MI0001723_5'Flank|uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	1217										pancreas(1)	1						AGGTAGCGGTTCTGACGCAGG	0.617													C	101347477	T	C	101347477	3	2	94	1	0	0	0	0	1	0	0	0	13724	1783	62	3	431	3	RTL1	14	101347477	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	544031	101347477	6002063	2471	61604											
DYNC1H1	1778	broad.mit.edu	37	chr14	102505979	102505979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctcttgtcccaggtggCgtttaaccgagtggctcgag	13	12	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:102505979C>T	uc001yks.2	+	62	11764	c.11600C>T	c.(11599-11601)GCG>GTG	p.A3867V		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3867					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TCCCAGGTGGCGTTTAACCGA	0.577													T	102505979	C	T	102505979	3	4	94	1	0	0	0	0	1	0	0	0	4841	768	27	1	11846	1	DYNC1H1	14	102505979	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1158502	102505979	4843561	2472	61605											
HSP90AA1	3320	broad.mit.edu	37	chr14	102551249	102551250	+	Frame_Shift_Del	DEL	TT	TT	-													tcaggtttgtcttccgactcTttctcttctttttctttttc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:102551249_102551250delTT	uc001yku.3	-	5	939_940	c.749_750delAA	c.(748-750)AAAfs	p.K250fs	HSP90AA1_uc001ykv.3_Frame_Shift_Del_p.K372fs|HSP90AA1_uc001ykw.1_Frame_Shift_Del_p.K71fs|HSP90AA1_uc001ykx.1_Frame_Shift_Del_p.K239fs	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	250					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	CTTCCGACtctttctcttcttt	0.188													-	102551250	TT	-	102551249	7	5	94	1	0	1	0	1	0	0	0	0	7401	1606	56	0	1476	0	HSP90AA1	14	102551249	Frame_Shift_Del	DEL	TT	TCGA-BR-8487-01A-11D-2394-08	45270	102551249	4798291	2473	61606											
RCOR1	23186	broad.mit.edu	37	chr14	103174911	103174911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggaaacaaaaacgggagcGggaggagaggtgagcacatg	17	7	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:103174911G>A	uc001ymb.2	+	6	761	c.761G>A	c.(760-762)CGG>CAG	p.R254Q		NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	254	Interaction with HDAC1.|Potential.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			ovary(1)	1						AAACGGGAGCGGGAGGAGAGG	0.473													A	103174911	G	A	103174911	3	1	94	1	0	0	0	0	1	0	0	0	13182	1116	39	1	783	1	RCOR1	14	103174911	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	623662	103174911	4174629	2474	61607											
TRAF3	7187	broad.mit.edu	37	chr14	103372097	103372097	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttattaaagtcatagtggaTacttcggatctgcccgatcc	8	9	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:103372097T>C	uc001ymc.1	+	12	2036	c.1683T>C	c.(1681-1683)GAT>GAC	p.D561D	TRAF3_uc001yme.1_Silent_p.D536D|TRAF3_uc001ymd.1_Silent_p.D561D|TRAF3_uc010txy.1_Silent_p.D478D	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3 isoform 1	561					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		TCATAGTGGATACTTCGGATC	0.453													C	103372097	T	C	103372097	2	2	94	1	0	0	0	0	0	0	0	1	16436	1403	49	3		3	TRAF3	14	103372097	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	197186	103372097	3977443	2475	61608											
CDC42BPB	9578	broad.mit.edu	37	chr14	103449935	103449935	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggtctccacgagtgactcCgcataaaacggcgtttctcc	9	13	2	1	rs143958594		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:103449935C>T	uc001ymi.1	-	7	1081	c.849G>A	c.(847-849)GCG>GCA	p.A283A		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	283	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CGAGTGACTCCGCATAAAACG	0.483													T	103449935	C	T	103449935	2	4	94	1	0	0	0	0	0	0	0	1	3073	639	23	1		1	CDC42BPB	14	103449935	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	77838	103449935	3899605	2476	61609											
EIF5	1983	broad.mit.edu	37	chr14	103803104	103803104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaatggatctcatgaggCgaataagctgcaagacatgt	11	7	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:103803104C>T	uc001ymq.2	+	5	767	c.245C>T	c.(244-246)GCG>GTG	p.A82V	EIF5_uc001ymr.2_Missense_Mutation_p.A82V|EIF5_uc001yms.2_Missense_Mutation_p.A82V|EIF5_uc001ymt.2_Missense_Mutation_p.A82V|EIF5_uc001ymu.2_Missense_Mutation_p.A82V|SNORA28_uc001ymv.1_5'Flank	NM_001969	NP_001960	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	82					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			pancreas(1)|breast(1)|skin(1)	3		Melanoma(154;0.155)	Epithelial(46;0.182)			TCTCATGAGGCGAATAAGCTG	0.388													T	103803104	C	T	103803104	3	4	94	1	0	0	0	0	1	0	0	0	5040	768	27	1	255	1	EIF5	14	103803104	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	353169	103803104	3546436	2477	61610											
INF2	64423	broad.mit.edu	37	chr14	105174185	105174185	+	Frame_Shift_Del	DEL	C	C	-													ctactgccctgcacctgcagCccccccgtggcgggaggcat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:105174185delC	uc001ypb.2	+	8	1724	c.1581delC	c.(1579-1581)AGCfs	p.S527fs	INF2_uc010tyi.1_Frame_Shift_Del_p.S527fs|INF2_uc001ypc.2_Frame_Shift_Del_p.S527fs|INF2_uc010awz.1_RNA	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	527					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GCACCTGCAGCCCCCCCGTGG	0.562													-	105174185	C	-	105174185	7	5	94	1	0	1	0	1	0	0	0	0	7734	738	26	0	1611	0	INF2	14	105174185	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	1371081	105174185	2175355	2478	61611											
INF2	64423	broad.mit.edu	37	chr14	105174896	105174896	+	Frame_Shift_Del	DEL	C	C	-													caaggagcccaccatggtggCcccccgggccaggaaggagc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:105174896delC	uc001ypb.2	+	9	2002	c.1859delC	c.(1858-1860)GCCfs	p.A620fs	INF2_uc010tyi.1_Frame_Shift_Del_p.A620fs|INF2_uc001ypc.2_Frame_Shift_Del_p.A620fs|INF2_uc010awz.1_RNA	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	620	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		ACCATGGTGGCCCCCCGGGCC	0.701											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	105174896	C	-	105174896	7	5	94	1	0	1	0	1	0	0	0	0	7734	739	26	0	1893	0	INF2	14	105174896	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	711	105174896	2174644	2479	61612											
KIAA0284	283638	broad.mit.edu	37	chr14	105353975	105353975	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgggcccggctgggggaCgcttcagacactgaggctgc	18	12	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:105353975C>T	uc010axb.2	+	12	3623	c.3399C>T	c.(3397-3399)GAC>GAT	p.D1133D	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.D1063D|KIAA0284_uc001yps.2_Silent_p.D1039D|KIAA0284_uc001ypt.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	1133						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GGCTGGGGGACGCTTCAGACA	0.726													T	105353975	C	T	105353975	2	4	94	1	0	0	0	0	0	0	0	1	8166	535	19	1		1	KIAA0284	14	105353975	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	179079	105353975	1995565	2480	61613											
AHNAK2	113146	broad.mit.edu	37	chr14	105404879	105404879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagattttttactttctgGtttgtcttttggagccctgc	8	9	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:105404879G>A	uc010axc.1	-	7	17029	c.16909C>T	c.(16909-16911)CCA>TCA	p.P5637S	AHNAK2_uc001ypx.2_Missense_Mutation_p.P5537S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5637						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)			TTACTTTCTGGTTTGTCTTTT	0.458													A	105404879	G	A	105404879	3	1	94	1	0	0	0	0	1	0	0	0	415	1261	44	4	482	4	AHNAK2	14	105404879	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	50904	105404879	1944661	2481	61614											
AHNAK2	113146	broad.mit.edu	37	chr14	105414444	105414444	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgacatccacctccacGctgggctgagacacctccac	8	19	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:105414444G>A	uc010axc.1	-	7	7464	c.7344C>T	c.(7342-7344)AGC>AGT	p.S2448S	AHNAK2_uc001ypx.2_Silent_p.S2348S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2448						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)			CCACCTCCACGCTGGGCTGAG	0.632													A	105414444	G	A	105414444	2	1	94	1	0	0	0	0	0	0	0	1	415	1078	38	1		1	AHNAK2	14	105414444	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	9565	105414444	1935096	2482	61615											
BTBD6	90135	broad.mit.edu	37	chr14	105716119	105716119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaagccaagaacgcctgcGtcctgctgtcccagagccgg	13	14	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:105716119G>A	uc010tyq.1	+	5	676	c.568G>A	c.(568-570)GTC>ATC	p.V190I	BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc010axg.1_Intron|BRF1_uc001yqp.2_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank	NM_033271	NP_150374	Q96KE9	BTBD6_HUMAN	BTB domain protein BDPL	190						cytoplasmic mRNA processing body					0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		GAACGCCTGCGTCCTGCTGTC	0.592													A	105716119	G	A	105716119	3	1	94	1	0	0	0	0	1	0	0	0	1545	1145	40	1	582	1	BTBD6	14	105716119	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	301675	105716119	1633421	2483	61616											
SNRPN	6638	broad.mit.edu	37	chr15	25222952	25222952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacagggaagaggcactGtagcagctgctgctgttgct	13	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:25222952G>A	uc001ywp.1	+	11	1338	c.448G>A	c.(448-450)GTA>ATA	p.V150I	SNRPN_uc001ywq.1_Missense_Mutation_p.V150I|SNRPN_uc001ywr.1_Missense_Mutation_p.V150I|SNRPN_uc001yws.1_Missense_Mutation_p.V150I|SNRPN_uc001ywt.1_Missense_Mutation_p.V150I|SNRPN_uc001ywv.1_Missense_Mutation_p.V153I|SNRPN_uc001yww.1_Missense_Mutation_p.V150I|SNRPN_uc001ywx.1_Missense_Mutation_p.V150I|SNRPN_uc001ywz.1_RNA|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	NM_022807	NP_073718	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	150					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		AAGAGGCACTGTAGCAGCTGC	0.552									Prader-Willi_syndrome				A	25222952	G	A	25222952	3	1	94	1	0	0	0	0	1	0	0	0	14870	1377	48	4	466	4	SNRPN	15	25222952	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08		25222952	77308440	2484	61617											
SNRPN	6638	broad.mit.edu	37	chr15	25223418	25223418	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgctcgagggacgccaaTaggcatgccgcctccgggaa	13	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:25223418T>C	uc001ywp.1	+	12	1528	c.638T>C	c.(637-639)ATA>ACA	p.I213T	SNRPN_uc001ywq.1_Missense_Mutation_p.I213T|SNRPN_uc001ywr.1_Missense_Mutation_p.I213T|SNRPN_uc001yws.1_Missense_Mutation_p.I213T|SNRPN_uc001ywt.1_Missense_Mutation_p.I213T|SNRPN_uc001ywv.1_Missense_Mutation_p.I216T|SNRPN_uc001yww.1_Missense_Mutation_p.I213T|SNRPN_uc001ywx.1_Missense_Mutation_p.I213T|SNRPN_uc001ywz.1_RNA|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	NM_022807	NP_073718	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	213	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGGACGCCAATAGGCATGCCG	0.562									Prader-Willi_syndrome				C	25223418	T	C	25223418	3	2	94	1	0	0	0	0	1	0	0	0	14870	1406	49	3	660	3	SNRPN	15	25223418	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	466	25223418	77307974	2485	61618											
ATP10A	57194	broad.mit.edu	37	chr15	25924992	25924992	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtgctcggttcccgagtcCttcgggaggcgtccctgagc	15	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:25924992C>A	uc010ayu.2	-	21	4102	c.3996G>T	c.(3994-3996)AAG>AAT	p.K1332N		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1332	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTCCCGAGTCCTTCGGGAGGC	0.602													A	25924992	C	A	25924992	3	1	94	1	0	0	0	0	1	0	0	0	1116	680	24	5	507	5	ATP10A	15	25924992	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	701574	25924992	76606400	2486	61619											
ATP10A	57194	broad.mit.edu	37	chr15	25953420	25953420	+	Frame_Shift_Del	DEL	T	T	-													tctgagttttgctccgaatcTttttttgatgcctccctctg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:25953419_25953419CT>C	uc010ayu.3	-	10	2479	c.2373_2373AG>G	c.(2371-2373)aagfs	p.K791fs		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	791					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGCTCCGAATCTTTTTTTGAT	0.532													-	25953420	T	-	25953420	7	5	94	1	0	1	0	1	0	0	0	0	1116	1609	56	0	2171	0	ATP10A	15	25953420	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	28428	25953420	76577972	2487	61620											
HERC2	8924	broad.mit.edu	37	chr15	28361854	28361854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacgggtgctctggcggcCgggctgagcaggtagcagtc	18	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:28361854C>T	uc001zbj.2	-	88	13672	c.13566G>A	c.(13564-13566)CCG>CCA	p.P4522P	HERC2_uc001zbi.2_Silent_p.P211P	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4522	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTCTGGCGGCCGGGCTGAGCA	0.632													T	28361854	C	T	28361854	2	4	94	1	0	0	0	0	0	0	0	1	7058	639	23	1		1	HERC2	15	28361854	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2408434	28361854	74169538	2488	61621											
HERC2	8924	broad.mit.edu	37	chr15	28412940	28412940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggccgacggagtcactgCagagggggtcactgcgtcct	18	11	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:28412940C>T	uc001zbj.2	-	68	10553	c.10447G>A	c.(10447-10449)GCA>ACA	p.A3483T		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3483					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGAGTCACTGCAGAGGGGGTC	0.522													T	28412940	C	T	28412940	3	4	94	1	0	0	0	0	1	0	0	0	7058	710	25	2	4161	2	HERC2	15	28412940	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	51086	28412940	74118452	2489	61622											
HERC2	8924	broad.mit.edu	37	chr15	28422219	28422219	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgagctcccacaggcgatAtcccggatacgcttggtttt	11	12	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:28422219A>G	uc001zbj.2	-	61	9415	c.9309T>C	c.(9307-9309)GAT>GAC	p.D3103D		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3103	RCC1 8.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CACAGGCGATATCCCGGATAC	0.557													G	28422219	A	G	28422219	2	3	94	1	0	0	0	0	0	0	0	1	7058	446	16	3		3	HERC2	15	28422219	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	9279	28422219	74109173	2490	61623											
HERC2	8924	broad.mit.edu	37	chr15	28427565	28427565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttggagcctttcagcccGcccagctggtccttgtcatt	9	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:28427565G>A	uc001zbj.2	-	57	9025	c.8919C>T	c.(8917-8919)GGC>GGT	p.G2973G		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2973	RCC1 6.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTTCAGCCCGCCCAGCTGGT	0.552													A	28427565	G	A	28427565	2	1	94	1	0	0	0	0	0	0	0	1	7058	1074	38	1		1	HERC2	15	28427565	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	5346	28427565	74103827	2491	61624											
TJP1	7082	broad.mit.edu	37	chr15	30019134	30019134	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaatacaacaattggatacCactgggcatagttaagacga	9	7	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:30019134C>A	uc001zcr.2	-	17	2637	c.2162G>T	c.(2161-2163)TGG>TTG	p.W721L	TJP1_uc010azl.2_Missense_Mutation_p.W709L|TJP1_uc001zcq.2_Missense_Mutation_p.W725L|TJP1_uc001zcs.2_Missense_Mutation_p.W721L	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	721	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AATTGGATACCACTGGGCATA	0.358													A	30019134	C	A	30019134	3	1	94	1	0	0	0	0	1	0	0	0	15926	595	21	5	3132	5	TJP1	15	30019134	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1591569	30019134	72512258	2492	61625											
TJP1	7082	broad.mit.edu	37	chr15	30065520	30065520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgaaaatgaggattatctCgtccaccagatattgcaatt	7	8	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:30065520C>T	uc001zcr.2	-	3	600	c.125G>A	c.(124-126)CGA>CAA	p.R42Q	TJP1_uc010azl.2_Missense_Mutation_p.R30Q|TJP1_uc001zcq.2_Missense_Mutation_p.R46Q|TJP1_uc001zcs.2_Missense_Mutation_p.R42Q	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	42	PDZ 1.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AGGATTATCTCGTCCACCAGA	0.368													T	30065520	C	T	30065520	3	4	94	1	0	0	0	0	1	0	0	0	15926	884	31	1	5225	1	TJP1	15	30065520	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	46386	30065520	72465872	2493	61626											
KLF13	51621	broad.mit.edu	37	chr15	31664455	31664455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccctcagcgactacagcCgctccgacgccagcagcccc	9	21	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:31664455C>T	uc001zfo.2	+	2	1153	c.820C>T	c.(820-822)CGC>TGC	p.R274C		NM_015995	NP_057079	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	274	Ser-rich.				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding				0		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		CGACTACAGCCGCTCCGACGC	0.736													T	31664455	C	T	31664455	3	4	94	1	0	0	0	0	1	0	0	0	8341	652	23	1	826	1	KLF13	15	31664455	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1598935	31664455	70866937	2494	61627											
OTUD7A	161725	broad.mit.edu	37	chr15	31851311	31851311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggaactgctcgttgttGcattcacttgccacgtggga	14	9	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:31851311G>A	uc001zfq.2	-	3	504	c.411C>T	c.(409-411)TGC>TGT	p.C137C	OTUD7A_uc001zfr.2_Silent_p.C137C|OTUD7A_uc001zfs.1_RNA|OTUD7A_uc010baa.1_Silent_p.C137C	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	137						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCTCGTTGTTGCATTCACTTG	0.582													A	31851311	G	A	31851311	2	1	94	1	0	0	0	0	0	0	0	1	11318	1311	46	2		2	OTUD7A	15	31851311	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	186856	31851311	70680081	2495	61628											
FMN1	342184	broad.mit.edu	37	chr15	33261465	33261465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcactttcacagggcttgaGgaaggtctctctgtctgtct	10	10	6	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:33261465G>A	uc001zhf.3	-	4	1768	c.1768C>T	c.(1768-1770)CTC>TTC	p.L590F		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	813	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CAGGGCTTGAGGAAGGTCTCT	0.463													A	33261465	G	A	33261465	3	1	94	1	0	0	0	0	1	0	0	0	5949	1000	35	4	1878	4	FMN1	15	33261465	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1410154	33261465	69269927	2496	61629											
RYR3	6263	broad.mit.edu	37	chr15	33795832	33795832	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgattttatttccacagTacattcctccagatctctgc	4	12	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:33795832T>C	uc001zhi.2	+	3	242	c.172T>C	c.(172-174)TAC>CAC	p.Y58H	RYR3_uc010bar.2_Missense_Mutation_p.Y58H	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	58	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATTTCCACAGTACATTCCTCC	0.453													C	33795832	T	C	33795832	3	2	94	1	0	0	0	0	1	0	0	0	13770	1652	57	3	182	3	RYR3	15	33795832	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	534367	33795832	68735560	2497	61630											
RYR3	6263	broad.mit.edu	37	chr15	34149996	34149996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagttggttctgactgtcGgtctcctggccgtggtggtt	14	11	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:34149996G>A	uc001zhi.2	+	99	14093	c.14023G>A	c.(14023-14025)GGT>AGT	p.G4675S	RYR3_uc010bar.2_Missense_Mutation_p.G4670S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4675	Helical; Name=M8; (Potential).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCTGACTGTCGGTCTCCTGGC	0.478													A	34149996	G	A	34149996	3	1	94	1	0	0	0	0	1	0	0	0	13770	1116	39	1	14417	1	RYR3	15	34149996	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	354164	34149996	68381396	2498	61631											
AVEN	57099	broad.mit.edu	37	chr15	34159952	34159952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttcagctcaaagatgggCccccttcctccaggccccaa	8	16	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:34159952C>T	uc001zhj.2	-	5	773	c.717G>A	c.(715-717)GGG>GGA	p.G239G		NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN	cell death regulator aven	239					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			kidney(1)	1		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		CAAAGATGGGCCCCCTTCCTC	0.542													T	34159952	C	T	34159952	2	4	94	1	0	0	0	0	0	0	0	1	1226	726	26	2		2	AVEN	15	34159952	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	9956	34159952	68371440	2499	61632											
PGBD4	161779	broad.mit.edu	37	chr15	34395002	34395002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaggtatgactttaccggCacacctggcagaaaagtcga	10	10	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:34395002C>T	uc001zho.2	+	1	729	c.270C>T	c.(268-270)GGC>GGT	p.G90G	C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	90											0		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		ACTTTACCGGCACACCTGGCA	0.418													T	34395002	C	T	34395002	2	4	94	1	0	0	0	0	0	0	0	1	11783	697	25	2		2	PGBD4	15	34395002	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	235050	34395002	68136390	2500	61633											
RASGRP1	10125	broad.mit.edu	37	chr15	38798066	38798066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtggttccttggttccCgggcataggaaagctcatag	12	10	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:38798066C>T	uc001zke.3	-	10	1476	c.1298G>A	c.(1297-1299)CGG>CAG	p.R433Q	RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Missense_Mutation_p.R295Q|RASGRP1_uc010bbg.2_Missense_Mutation_p.R295Q|RASGRP1_uc001zkd.3_Missense_Mutation_p.R433Q	NM_005739	NP_005730	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 isoform a	433	Ras-GEF.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			large_intestine(1)|ovary(1)	2		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CCTTGGTTCCCGGGCATAGGA	0.443													T	38798066	C	T	38798066	3	4	94	1	0	0	0	0	1	0	0	0	13074	652	23	1	1127	1	RASGRP1	15	38798066	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4403064	38798066	63733326	2501	61634											
RASGRP1	10125	broad.mit.edu	37	chr15	38805064	38805064	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaaccatcagttgtacccActgggagatgccgttgcaca	11	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:38805064A>G	uc001zke.3	-	7	947	c.769T>C	c.(769-771)TGG>CGG	p.W257R	RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Missense_Mutation_p.W119R|RASGRP1_uc010bbg.2_Missense_Mutation_p.W119R|RASGRP1_uc001zkd.3_Missense_Mutation_p.W257R	NM_005739	NP_005730	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 isoform a	257	Ras-GEF.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			large_intestine(1)|ovary(1)	2		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AGTTGTACCCACTGGGAGATG	0.502													G	38805064	A	G	38805064	3	3	94	1	0	0	0	0	1	0	0	0	13074	159	6	3	1668	3	RASGRP1	15	38805064	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	6998	38805064	63726328	2502	61635											
EIF2AK4	440275	broad.mit.edu	37	chr15	40300240	40300240	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctccagatactgcatagaAcgtgtgttcaggccgcgcaa	10	12	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:40300240A>G	uc001zkm.1	+	25	3470	c.3420A>G	c.(3418-3420)GAA>GAG	p.E1140E	EIF2AK4_uc010bbj.1_Silent_p.E841E|EIF2AK4_uc001zkn.1_Silent_p.E240E|EIF2AK4_uc001zko.1_Silent_p.E78E|EIF2AK4_uc010bbk.1_RNA	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	1140	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ACTGCATAGAACGTGTGTTCA	0.388													G	40300240	A	G	40300240	2	3	94	1	0	0	0	0	0	0	0	1	4999	40	2	3		3	EIF2AK4	15	40300240	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1495176	40300240	62231152	2503	61636											
BUB1B	701	broad.mit.edu	37	chr15	40501868	40501868	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcaccatggtgttcacagTatcgcagacagctactgaag	10	10	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:40501868T>C	uc001zkx.3	+	17	2388	c.2176T>C	c.(2176-2178)TAT>CAT	p.Y726H		NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	726					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|kidney(1)	4		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GTGTTCACAGTATCGCAGACA	0.413			Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome				C	40501868	T	C	40501868	3	2	94	1	0	0	0	0	1	0	0	0	1571	1638	57	3	2242	3	BUB1B	15	40501868	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	201628	40501868	62029524	2504	61637											
C15orf52	388115	broad.mit.edu	37	chr15	40631782	40631782	+	Frame_Shift_Del	DEL	C	C	-													gctggtgtggtcacagccatCcccccctgctctgcctgccg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:40631781_40631781TC>T	uc001zlh.4	-	2	311	c.295_295GA>A	c.(295-297)atgfs	p.M99fs	C15orf52_uc001zli.1_5'UTR|C15orf52_uc010ucn.2_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	99								p.M99fs*3(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GTCACAGCCATCCCCCCCTGC	0.647													-	40631782	C	-	40631782	7	5	94	1	0	1	0	1	0	0	0	0	1800	842	30	0	1346	0	C15orf52	15	40631782	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	129914	40631782	61899610	2505	61638											
DISP2	85455	broad.mit.edu	37	chr15	40659836	40659836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcatggccctgtacctgcGctcactcttcctcacgctca	8	18	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:40659836G>A	uc001zlk.1	+	8	1612	c.1523G>A	c.(1522-1524)CGC>CAC	p.R508H		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	508	SSD.				smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CTGTACCTGCGCTCACTCTTC	0.622													A	40659836	G	A	40659836	3	1	94	1	0	0	0	0	1	0	0	0	4540	1087	38	1	1553	1	DISP2	15	40659836	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	28054	40659836	61871556	2506	61639											
DISP2	85455	broad.mit.edu	37	chr15	40660921	40660921	+	Frame_Shift_Del	DEL	T	T	-													acttcccctgggccccccagTttttcctgcactgcctgaaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:40660921delT	uc001zlk.1	+	8	2697	c.2608delT	c.(2608-2610)TTTfs	p.F870fs		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	870					smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GGCCCCCCAGTTTTTCCTGCA	0.667													-	40660921	T	-	40660921	7	5	94	1	0	1	0	1	0	0	0	0	4540	1725	60	0	2638	0	DISP2	15	40660921	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	1085	40660921	61870471	2507	61640											
ZFYVE19	84936	broad.mit.edu	37	chr15	41105975	41105975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctgcagagcaggcttctcGaccctggacgcaaccccgcg	11	18	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:41105975G>A	uc001zmt.1	+	9	1689	c.1175G>A	c.(1174-1176)CGA>CAA	p.R392Q	ZFYVE19_uc001zmu.1_Missense_Mutation_p.R324Q|ZFYVE19_uc001zmv.1_Missense_Mutation_p.R217Q|ZFYVE19_uc001zmw.1_Missense_Mutation_p.R217Q|ZFYVE19_uc001zmx.1_Missense_Mutation_p.R217Q|ZFYVE19_uc010bcc.1_Missense_Mutation_p.R217Q	NM_001077268	NP_001070736	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	392							zinc ion binding				0		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CAGGCTTCTCGACCCTGGACG	0.612													A	41105975	G	A	41105975	3	1	94	1	0	0	0	0	1	0	0	0	17662	1058	37	1	1209	1	ZFYVE19	15	41105975	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	445054	41105975	61425417	2508	61641											
EXD1	161829	broad.mit.edu	37	chr15	41476734	41476734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgcagctttctccctgcGctgcttctggaagtccttga	9	13	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:41476734G>A	uc001znk.2	-	10	1131	c.940C>T	c.(940-942)CGC>TGC	p.R314C	EXD1_uc001znj.2_Missense_Mutation_p.R112C|EXD1_uc010ucv.1_Missense_Mutation_p.R372C	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	314					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			ovary(1)	1						TTCTCCCTGCGCTGCTTCTGG	0.453													A	41476734	G	A	41476734	3	1	94	1	0	0	0	0	1	0	0	0	5297	1087	38	1	608	1	EXD1	15	41476734	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	370759	41476734	61054658	2509	61642											
TYRO3	7301	broad.mit.edu	37	chr15	41865979	41865979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actacctcattggcgggaacCgcctgaaacagcctccggag	11	14	1	1	rs145529129	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:41865979C>T	uc001zof.1	+	18	2472	c.2248C>T	c.(2248-2250)CGC>TGC	p.R750C		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	750	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGGCGGGAACCGCCTGAAACA	0.562													T	41865979	C	T	41865979	3	4	94	1	0	0	0	0	1	0	0	0	16811	652	23	1	2318	1	TYRO3	15	41865979	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	389245	41865979	60665413	2510	61643											
MAPKBP1	23005	broad.mit.edu	37	chr15	42109837	42109837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatggagtgcagttcacacGgacacaccacgtggtgcgga	14	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:42109837G>A	uc001zok.3	+	17	2112	c.1826G>A	c.(1825-1827)CGG>CAG	p.R609Q	MAPKBP1_uc001zoj.3_Missense_Mutation_p.R603Q|MAPKBP1_uc010bcj.2_Missense_Mutation_p.R110Q|MAPKBP1_uc010bci.2_Missense_Mutation_p.R603Q|MAPKBP1_uc010udb.1_Missense_Mutation_p.R442Q|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Missense_Mutation_p.R110Q	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	609										central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CAGTTCACACGGACACACCAC	0.607													A	42109837	G	A	42109837	3	1	94	1	0	0	0	0	1	0	0	0	9292	1116	39	1	1888	1	MAPKBP1	15	42109837	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	243858	42109837	60421555	2511	61644											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42126974	42126974	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgccctacctggacaAacccccaactccgctccact	6	19	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:42126974A>G	uc001zoo.3	+	2	141	c.101A>G	c.(100-102)AAA>AGA	p.K34R	JMJD7-PLA2G4B_uc010bcm.1_RNA|JMJD7-PLA2G4B_uc001zom.2_Intron|JMJD7-PLA2G4B_uc001zon.2_Missense_Mutation_p.K34R|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.K34R|JMJD7-PLA2G4B_uc001zop.1_5'UTR|JMJD7-PLA2G4B_uc001zoq.3_5'Flank	NM_005090	NP_005081	P0C869	PA24B_HUMAN	JMJD7-PLA2G4B protein	Error:Variant_position_missing_in_P0C869_after_alignment					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						TACCTGGACAAACCCCCAACT	0.612													G	42126974	A	G	42126974	3	3	94	1	0	0	0	0	1	0	0	0	7955	14	1	3	107	3	JMJD7-PLA2G4B	15	42126974	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	17137	42126974	60404418	2512	61645											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42139594	42139594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccgttcccacccatctcGcccagccccgaagagcagct	7	20	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:42139594G>A	uc010bco.2	+	19	2108	c.2007G>A	c.(2005-2007)TCG>TCA	p.S669S	JMJD7-PLA2G4B_uc001zoo.3_Silent_p.S900S|JMJD7-PLA2G4B_uc010bcn.2_Intron|JMJD7-PLA2G4B_uc001zoq.3_Silent_p.S370S	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	669	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						CACCCATCTCGCCCAGCCCCG	0.692													A	42139594	G	A	42139594	2	1	94	1	0	0	0	0	0	0	0	1	7955	1074	38	1		1	JMJD7-PLA2G4B	15	42139594	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	12620	42139594	60391798	2513	61646											
GANC	2595	broad.mit.edu	37	chr15	42600423	42600425	+	In_Frame_Del	DEL	CTT	CTT	-													tatcctggtctctacaggccCttcttctattggtttggatt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:42600423_42600425delCTT	uc001zpi.2	+	8	943_945	c.629_631delCTT	c.(628-633)CCTTCT>CCT	p.S212del	GANC_uc001zph.2_In_Frame_Del_p.S212del|GANC_uc001zpj.1_5'UTR	NM_198141	NP_937784	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	212					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			central_nervous_system(2)	2		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TCTACAGGCCCTTCTTCTATTGG	0.399													-	42600425	CTT	-	42600423	7	5	94	1	0	1	0	1	0	0	0	0	6234	681	24	0	659	0	GANC	15	42600423	In_Frame_Del	DEL	CTT	TCGA-BR-8487-01A-11D-2394-08	460829	42600423	59930969	2514	61647											
ZFP106	64397	broad.mit.edu	37	chr15	42710116	42710116	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caagtgttgttttaaatgatCtacaacgccaaatatcagag	7	7	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:42710116C>A	uc001zpw.2	-	18	5817	c.5482G>T	c.(5482-5484)GAT>TAT	p.D1828Y	ZFP106_uc001zpu.2_Missense_Mutation_p.D926Y|ZFP106_uc001zpv.2_Missense_Mutation_p.D1013Y|ZFP106_uc001zpx.2_Missense_Mutation_p.D1056Y	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	1828	C2H2-type 2; atypical.					nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TTTAAATGATCTACAACGCCA	0.458													A	42710116	C	A	42710116	3	1	94	1	0	0	0	0	1	0	0	0	17634	913	32	5	177	5	ZFP106	15	42710116	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	109693	42710116	59821276	2515	61648											
ZFP106	64397	broad.mit.edu	37	chr15	42742066	42742066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgcatttagaatctgccGtagggttggcttgagcccag	13	8	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:42742066G>A	uc001zpw.2	-	2	2670	c.2335C>T	c.(2335-2337)CGG>TGG	p.R779W	ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.R562W|ZFP106_uc001zpy.1_Missense_Mutation_p.R802W	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	779						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		AGAATCTGCCGTAGGGTTGGC	0.507													A	42742066	G	A	42742066	3	1	94	1	0	0	0	0	1	0	0	0	17634	1144	40	1	3388	1	ZFP106	15	42742066	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	31950	42742066	59789326	2516	61649											
TTBK2	146057	broad.mit.edu	37	chr15	43120161	43120161	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaggaattggtaaattgtcGagccaagccaaaatcaagca	9	8	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:43120161G>A	uc001zqo.2	-	6	941	c.502C>T	c.(502-504)CGA>TGA	p.R168*	TTBK2_uc010bcy.2_Nonsense_Mutation_p.R99*|TTBK2_uc001zqp.2_Nonsense_Mutation_p.R168*|TTBK2_uc010bcz.1_Intron	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	168	Protein kinase.				cell death		ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GTAAATTGTCGAGCCAAGCCA	0.333													A	43120161	G	A	43120161	4	1	94	1	0	0	0	0	0	1	0	0	16674	1066	37	1	3272	1	TTBK2	15	43120161	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	378095	43120161	59411231	2517	61650											
UBR1	197131	broad.mit.edu	37	chr15	43351982	43351982	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataatctctgagtgtaatacTtctacatgaagtggatgttg	9	5	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:43351982T>C	uc001zqq.2	-	8	969	c.903A>G	c.(901-903)GAA>GAG	p.E301E	UBR1_uc010udk.1_Silent_p.E301E	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	301					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGTGTAATACTTCTACATGAA	0.353													C	43351982	T	C	43351982	2	2	94	1	0	0	0	0	0	0	0	1	16898	1606	56	3		3	UBR1	15	43351982	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	231821	43351982	59179410	2518	61651											
TMEM62	80021	broad.mit.edu	37	chr15	43452973	43452973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcatcatttattctccGtactgatcactacatcatgg	6	12	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:43452973G>A	uc001zqr.2	+	10	1556	c.1277G>A	c.(1276-1278)CGT>CAT	p.R426H	TMEM62_uc010bda.2_Missense_Mutation_p.R296H|TMEM62_uc001zqt.2_5'UTR	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	426						integral to membrane				ovary(1)|breast(1)	2		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TTTATTCTCCGTACTGATCAC	0.289													A	43452973	G	A	43452973	3	1	94	1	0	0	0	0	1	0	0	0	16186	1145	40	1	1315	1	TMEM62	15	43452973	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	100991	43452973	59078419	2519	61652											
EPB42	2038	broad.mit.edu	37	chr15	43500944	43500944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggcaaacgtggtcaccaCgcgggcagggattcccaggc	15	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:43500944C>T	uc001zra.3	-	7	1162	c.862G>A	c.(862-864)GTG>ATG	p.V288M	EPB42_uc001zqz.3_Translation_Start_Site|EPB42_uc010bde.2_Missense_Mutation_p.V133M|EPB42_uc001zrb.3_Missense_Mutation_p.V318M|EPB42_uc010udm.1_Missense_Mutation_p.V210M	NM_001114134	NP_001107606	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2 isoform 2	288					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			ovary(2)	2		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GTGGTCACCACGCGGGCAGGG	0.612													T	43500944	C	T	43500944	3	4	94	1	0	0	0	0	1	0	0	0	5158	536	19	1	1241	1	EPB42	15	43500944	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	47971	43500944	59030448	2520	61653											
LCMT2	9836	broad.mit.edu	37	chr15	43620638	43620638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccagtccttactgcccagCacttaaggaagaaaggtcta	9	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:43620638C>T	uc001zrg.2	-	1	2254	c.2050G>A	c.(2050-2052)GCT>ACT	p.A684T	LCMT2_uc010udn.1_Missense_Mutation_p.A263T|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	684					tRNA processing		methyltransferase activity|protein binding				0		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TACTGCCCAGCACTTAAGGAA	0.458													T	43620638	C	T	43620638	3	4	94	1	0	0	0	0	1	0	0	0	8679	710	25	2	14	2	LCMT2	15	43620638	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	119694	43620638	58910754	2521	61654											
MAP1A	4130	broad.mit.edu	37	chr15	43814218	43814218	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatatcgtgtggtcagcaatAccattgagccactgaccctc	8	12	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:43814218A>G	uc001zrt.2	+	4	1014	c.547A>G	c.(547-549)ACC>GCC	p.T183A		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	183						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGTCAGCAATACCATTGAGCC	0.552													G	43814218	A	G	43814218	3	3	94	1	0	0	0	0	1	0	0	0	9227	391	14	3	549	3	MAP1A	15	43814218	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	193580	43814218	58717174	2522	61655											
PPIP5K1	9677	broad.mit.edu	37	chr15	43827486	43827486	+	Frame_Shift_Del	DEL	C	C	-													tggttcaaaaagctcttgctCcccttctatggagagctctt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:43827486delC	uc001zrw.2	-	31	3871	c.3688delG	c.(3688-3690)GAGfs	p.E1230fs	PPIP5K1_uc001zrx.1_Frame_Shift_Del_p.E1203fs|PPIP5K1_uc001zru.2_Frame_Shift_Del_p.E1205fs|PPIP5K1_uc001zry.3_Frame_Shift_Del_p.E1205fs|PPIP5K1_uc001zrv.2_Intron	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	histidine acid phosphatase domain containing 2A	1230					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity				0						AGCTCTTGCTCCCCTTCTATG	0.557													-	43827486	C	-	43827486	7	5	94	1	0	1	0	1	0	0	0	0	12332	864	30	0	617	0	PPIP5K1	15	43827486	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	13268	43827486	58703906	2523	61656											
B2M	567	broad.mit.edu	37	chr15	45003747	45003747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagcattcgggccgagatGtctcgctccgtggccttagc	13	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:45003747G>A	uc001zuc.2	+	1	63	c.3G>A	c.(1-3)ATG>ATA	p.M1I	B2M_uc010uek.1_Missense_Mutation_p.M1I|B2M_uc010bdx.1_Missense_Mutation_p.M1I	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	1					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.M1V(2)		ovary(2)|skin(1)	3		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GGGCCGAGATGTCTCGCTCCG	0.612													A	45003747	G	A	45003747	3	1	94	1	0	0	0	0	1	0	0	0	1244	1377	48	4	5	4	B2M	15	45003747	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1176261	45003747	57527645	2524	61657											
B2M	567	broad.mit.edu	37	chr15	45007833	45007834	+	Frame_Shift_Ins	INS	-	-	A													cactgaattcacccccactgINSaaaaagatgagtatgcctgc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:45007833_45007834insA	uc001zuc.2	+	2	340_341	c.280_281insA	c.(280-282)GAAfs	p.E94fs	B2M_uc010uek.1_Frame_Shift_Ins_p.E94fs|B2M_uc010bdx.1_Intron	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	94	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			ovary(2)|skin(1)	3		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		CACCCCCACTGAAAAAGATGAG	0.421													A	45007834	-	A	45007833	7	5	94	1	0	1	1	0	0	0	0	0	1244	1291	45	0	286	0	B2M	15	45007833	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	4086	45007833	57523559	2525	61658	291	2									
B2M	567	broad.mit.edu	37	chr15	45007834	45007835	+	Frame_Shift_Ins	INS	-	-	A													actgaattcacccccactgaINSaaaagatgagtatgcctgcc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:45007833_45007834G>GA	uc001zuc.3	+	1	340_341	c.280_281G>GA	c.(280-282)gaafs	p.E94fs	B2M_uc010uek.1_Frame_Shift_Ins_p.E94fs|B2M_uc010bdx.1_Intron	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	94	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.E94K(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		CACCCCCACTGAAAAAGATGAG	0.421													A	45007835	-	A	45007834	7	5	94	1	0	1	1	0	0	0	0	0	1244	246	9	0	287	0	B2M	15	45007834	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	45007834	57523558	2526	61659	291	2									
DUOX1	53905	broad.mit.edu	37	chr15	45444205	45444205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacatcggctgcgtggccGtgttctacgccatcgctggg	14	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:45444205G>A	uc001zus.1	+	25	3494	c.3148G>A	c.(3148-3150)GTG>ATG	p.V1050M	DUOX1_uc001zut.1_Missense_Mutation_p.V1050M|DUOX1_uc010bee.1_Missense_Mutation_p.V430M|DUOX1_uc001zuu.2_Missense_Mutation_p.V192M	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1050	Helical; (Potential).|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTGCGTGGCCGTGTTCTACGC	0.587													A	45444205	G	A	45444205	3	1	94	1	0	0	0	0	1	0	0	0	4800	1145	40	1	3238	1	DUOX1	15	45444205	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	436371	45444205	57087187	2527	61660											
FBN1	2200	broad.mit.edu	37	chr15	48703365	48703365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttgtgaagtggaggtagCtgatcccttccttttggttg	12	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:48703365C>T	uc001zwx.1	-	66	8766	c.8438G>A	c.(8437-8439)AGC>AAC	p.S2813N	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2813					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTGGAGGTAGCTGATCCCTTC	0.388													T	48703365	C	T	48703365	3	4	94	1	0	0	0	0	1	0	0	0	5702	797	28	2	181	2	FBN1	15	48703365	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3259160	48703365	53828027	2528	61661											
FBN1	2200	broad.mit.edu	37	chr15	48829944	48829944	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttttgtgcagacaatcccGctgagttgtccctggcacat	10	11	0	2	rs25389		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:48829944G>A	uc001zwx.1	-	7	928	c.600C>T	c.(598-600)AGC>AGT	p.S200S		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	200	TB 1.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGACAATCCCGCTGAGTTGTC	0.527													A	48829944	G	A	48829944	2	1	94	1	0	0	0	0	0	0	0	1	5702	1078	38	1		1	FBN1	15	48829944	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	126579	48829944	53701448	2529	61662											
ATP8B4	79895	broad.mit.edu	37	chr15	50336843	50336843	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagttatcaccaggaccaaaGgcacaatggtggtaaaccag	10	9	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:50336843G>T	uc001zxu.2	-	5	390	c.248C>A	c.(247-249)CCT>CAT	p.P83H	ATP8B4_uc010ber.2_5'UTR|ATP8B4_uc010ufd.1_5'UTR|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	83	Helical; (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CAGGACCAAAGGCACAATGGT	0.383													T	50336843	G	T	50336843	3	4	94	1	0	0	0	0	1	0	0	0	1197	1000	35	5	3426	5	ATP8B4	15	50336843	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1506899	50336843	52194549	2530	61663											
HDC	3067	broad.mit.edu	37	chr15	50544656	50544656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggccacgcctgagttggCatgcctgaggtagatgggat	17	8	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:50544656C>T	uc001zxz.2	-	9	1118	c.1012G>A	c.(1012-1014)GCC>ACC	p.A338T	HDC_uc001zxy.2_Missense_Mutation_p.A81T|HDC_uc010uff.1_Missense_Mutation_p.A338T	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	338					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CCTGAGTTGGCATGCCTGAGG	0.597													T	50544656	C	T	50544656	3	4	94	1	0	0	0	0	1	0	0	0	7015	710	25	2	992	2	HDC	15	50544656	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	207813	50544656	51986736	2531	61664											
GABPB1	2553	broad.mit.edu	37	chr15	50595164	50595164	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttcatttccattgtctaTtgaaatatcaaatgcagttt	4	7	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:50595164T>C	uc001zyb.2	-	4	857	c.433A>G	c.(433-435)ATA>GTA	p.I145V	GABPB1_uc001zya.2_Missense_Mutation_p.I145V|GABPB1_uc010ufg.1_Missense_Mutation_p.I69V|GABPB1_uc001zyc.2_Missense_Mutation_p.I145V|GABPB1_uc001zyd.2_Missense_Mutation_p.I145V|GABPB1_uc001zye.2_Missense_Mutation_p.I145V|GABPB1_uc001zyf.2_Missense_Mutation_p.I145V	NM_005254	NP_005245	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta	145	ANK 5.				positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)	1						CCATTGTCTATTGAAATATCA	0.318													C	50595164	T	C	50595164	3	2	94	1	0	0	0	0	1	0	0	0	6158	1493	52	3	826	3	GABPB1	15	50595164	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	50508	50595164	51936228	2532	61665											
USP8	9101	broad.mit.edu	37	chr15	50763891	50763892	+	Frame_Shift_Ins	INS	-	-	G													taaagacacatggaagaagaINSgggggaatgtggagtatgtg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:50763891_50763892insG	uc001zym.3	+	9	1248_1249	c.748_749insG	c.(748-750)AGGfs	p.R250fs	USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.3_Frame_Shift_Ins_p.R250fs|USP8_uc001zyn.3_Frame_Shift_Ins_p.R250fs|USP8_uc010ufh.1_Frame_Shift_Ins_p.R173fs|USP8_uc010bev.1_Intron	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	250	Rhodanese.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATGGAAGAAGAGGGGGAATGTG	0.406													G	50763892	-	G	50763891	7	5	94	1	0	1	1	0	0	0	0	0	17086	295	11	0	774	0	USP8	15	50763891	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	168727	50763891	51767501	2533	61666	292	2									
USP8	9101	broad.mit.edu	37	chr15	50763892	50763893	+	Frame_Shift_Ins	INS	-	-	G													aaagacacatggaagaagagINSggggaatgtggagtatgtgg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:50763891_50763892A>AG	uc001zym.4	+	8	1248_1249	c.748_749A>AG	c.(748-750)aggfs	p.R250fs	USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.4_Frame_Shift_Ins_p.R250fs|USP8_uc001zyn.4_Frame_Shift_Ins_p.R250fs|USP8_uc010ufh.2_Frame_Shift_Ins_p.R173fs|USP8_uc010bev.1_Intron	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	250	Rhodanese.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATGGAAGAAGAGGGGGAATGTG	0.406													G	50763893	-	G	50763892	7	5	94	1	0	1	1	0	0	0	0	0	17086	1000	35	0	775	0	USP8	15	50763892	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	50763892	51767500	2534	61667	292	2									
GLDN	342035	broad.mit.edu	37	chr15	51696681	51696681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattctcagtggtgcaacaCgtcaataccacgtaccctaa	6	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:51696681C>T	uc002aba.2	+	10	1555	c.1386C>T	c.(1384-1386)CAC>CAT	p.H462H	GLDN_uc002abb.2_Silent_p.H338H	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	462	Extracellular (Potential).|Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TGGTGCAACACGTCAATACCA	0.483													T	51696681	C	T	51696681	2	4	94	1	0	0	0	0	0	0	0	1	6434	535	19	1		1	GLDN	15	51696681	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	932789	51696681	50834711	2535	61668											
DMXL2	23312	broad.mit.edu	37	chr15	51868358	51868358	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatttgccaaaataacaatAtcacagcctgatccatatgc	4	11	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:51868358A>G	uc002abf.2	-	2	333	c.108T>C	c.(106-108)GAT>GAC	p.D36D	DMXL2_uc010ufy.1_Silent_p.D36D|DMXL2_uc010bfa.2_Silent_p.D36D|DMXL2_uc002abg.2_Silent_p.D36D	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	36						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		AAATAACAATATCACAGCCTG	0.308													G	51868358	A	G	51868358	2	3	94	1	0	0	0	0	0	0	0	1	4595	446	16	3		3	DMXL2	15	51868358	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	171677	51868358	50663034	2536	61669											
PIGB	9488	broad.mit.edu	37	chr15	55621922	55621922	+	Splice_Site	DEL	T	T	-													tgctctgtactttttcttagTttttttgccagttgtgctcc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:55621921_55621921GT>G	uc002act.3	+	5	839	c.523_splice	c.e5-1	p.F175_splice	PIGB_uc010ugg.2_Splice_Site	NM_004855	NP_004846	Q92521	PIGB_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA.	175					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTTTTTCTTAGTTTTTTTGCC	0.343													-	55621922	T	-	55621922	8	5	94	1	0	1	0	1	0	0	1	0	11885	1739	60	0	541	0	PIGB	15	55621922	Splice_Site	DEL	T	TCGA-BR-8487-01A-11D-2394-08	3753564	55621922	46909470	2537	61670											
PRTG	283659	broad.mit.edu	37	chr15	55912361	55912362	+	Frame_Shift_Ins	INS	-	-	A													aacaccaaagggtcttgagaINSagctggttgtctgacctggg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:55912360_55912361G>GA	uc002adg.3	-	19	3350_3351	c.3302_3303C>TC	c.(3301-3303)ttcfs	p.F1101fs		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	1101					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGGGTCTTGAGAAGCTGGTTGT	0.495													A	55912362	-	A	55912361	7	5	94	1	0	1	1	0	0	0	0	0	12638	246	9	0	154	0	PRTG	15	55912361	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	290439	55912361	46619031	2538	61671											
TCF12	6938	broad.mit.edu	37	chr15	57565312	57565312	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggctaacaatgccagagaAcgcttacgcgtgcgggatat	12	9	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:57565312A>G	uc002aec.2	+	18	2042	c.1758A>G	c.(1756-1758)GAA>GAG	p.E586E	TCF12_uc010ugm.1_Silent_p.E638E|TCF12_uc010ugn.1_Silent_p.E606E|TCF12_uc002aea.2_Silent_p.E610E|TCF12_uc010bfs.2_Silent_p.E7E|TCF12_uc002aeb.2_Silent_p.E610E|TCF12_uc002aed.2_Silent_p.E586E|TCF12_uc002aee.2_Silent_p.E416E|TCF12_uc010bft.2_Silent_p.E440E|TCF12_uc010ugo.1_Silent_p.E350E|TCF12_uc010ugp.1_Silent_p.E243E|TCF12_uc010ugq.1_Silent_p.E220E|TCF12_uc010ugr.1_Silent_p.E199E	NM_207038	NP_996921	Q99081	HTF4_HUMAN	transcription factor 12 isoform b	586	Basic motif.				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(2)|lung(1)	8		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATGCCAGAGAACGCTTACGCG	0.423			T	TEC	extraskeletal myxoid chondrosarcoma								G	57565312	A	G	57565312	2	3	94	1	0	0	0	0	0	0	0	1	15684	40	2	3		3	TCF12	15	57565312	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1652951	57565312	44966080	2539	61672											
GCOM1	145781	broad.mit.edu	37	chr15	57896485	57896485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaaatgtttgcagactaCggctgaccgtacctcctgag	11	11	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:57896485C>T	uc002aei.2	+	2	213	c.94C>T	c.(94-96)CGG>TGG	p.R32W	GCOM1_uc002aej.2_Missense_Mutation_p.R32W|GCOM1_uc002aek.2_RNA|GCOM1_uc002ael.2_RNA|GCOM1_uc002aem.2_Missense_Mutation_p.R32W|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_RNA|GCOM1_uc002aeo.2_Missense_Mutation_p.R32W|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_RNA	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	GRINL1A upstream protein isoform 7	32					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				ovary(1)	1						TTGCAGACTACGGCTGACCGT	0.507													T	57896485	C	T	57896485	3	4	94	1	0	0	0	0	1	0	0	0	6304	527	19	1	100	1	GCOM1	15	57896485	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	331173	57896485	44634907	2540	61673											
GCOM1	145781	broad.mit.edu	37	chr15	57924693	57924693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgaccaagaagctgtacaGccagtatgaggagaagctgc	13	8	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:57924693G>A	uc002aei.2	+	7	859	c.740G>A	c.(739-741)AGC>AAC	p.S247N	GCOM1_uc002aej.2_Missense_Mutation_p.S247N|GCOM1_uc002aek.2_RNA|GCOM1_uc002ael.2_RNA|GCOM1_uc002aem.2_Missense_Mutation_p.S247N|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_RNA|GCOM1_uc002aeo.2_Missense_Mutation_p.S247N|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_RNA	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	GRINL1A upstream protein isoform 7	247	Potential.				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				ovary(1)	1						AAGCTGTACAGCCAGTATGAG	0.502													A	57924693	G	A	57924693	3	1	94	1	0	0	0	0	1	0	0	0	6304	971	34	2	766	2	GCOM1	15	57924693	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	28208	57924693	44606699	2541	61674											
LIPC	3990	broad.mit.edu	37	chr15	58853170	58853170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagagaaaatgcagaaaattCccatcactctgtgagtagga	9	7	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:58853170C>T	uc010bga.1	+	9	1767	c.1159C>T	c.(1159-1161)CCC>TCC	p.P387S	LIPC_uc010bfz.1_Missense_Mutation_p.P387S|LIPC_uc002afa.1_Missense_Mutation_p.P387S|LIPC_uc010bgb.1_Missense_Mutation_p.P285S|LIPC_uc010ugy.1_Missense_Mutation_p.P326S	NM_000236	NP_000227	P11150	LIPC_HUMAN	lipase C precursor	387	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			ovary(1)	1		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GCAGAAAATTCCCATCACTCT	0.408													T	58853170	C	T	58853170	3	4	94	1	0	0	0	0	1	0	0	0	8820	855	30	4	1185	4	LIPC	15	58853170	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	928477	58853170	43678222	2542	61675											
LIPC	3990	broad.mit.edu	37	chr15	58855922	58855922	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcaggagaaacccagcaaaGgtgactgctgattcaatctc	10	10	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:58855922G>T	uc010bga.1	+	10	1996	c.1388G>T	c.(1387-1389)AGA>ATA	p.R463I	LIPC_uc010bfz.1_3'UTR|LIPC_uc002afa.1_Missense_Mutation_p.R463I|LIPC_uc010bgb.1_Missense_Mutation_p.R361M|LIPC_uc010ugy.1_Missense_Mutation_p.R402I	NM_000236	NP_000227	P11150	LIPC_HUMAN	lipase C precursor	463	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			ovary(1)	1		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		ACCCAGCAAAGGTGACTGCTG	0.343													T	58855922	G	T	58855922	3	4	94	1	0	0	0	0	1	0	0	0	8820	1014	35	5	1418	5	LIPC	15	58855922	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2752	58855922	43675470	2543	61676											
MYO1E	4643	broad.mit.edu	37	chr15	59430514	59430514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcttgggcttgggctgggGcttgggtctgccccctgctg	18	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:59430514G>A	uc002aga.2	-	27	3505	c.3133C>T	c.(3133-3135)CCC>TCC	p.P1045S		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	1045					actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)		TTGGGCTGGGGCTTGGGTCTG	0.587											OREG0023155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	59430514	G	A	59430514	3	1	94	1	0	0	0	0	1	0	0	0	10072	1203	42	2	201	2	MYO1E	15	59430514	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	574592	59430514	43100878	2544	61677											
RORA	6095	broad.mit.edu	37	chr15	60806876	60806876	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgttggcagcggtttctActggttcgatcaatcaaaca	10	9	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:60806876A>G	uc002agv.2	-	5	618	c.462T>C	c.(460-462)AGT>AGC	p.S154S	uc002ags.1_Intron|RORA_uc002agt.3_Silent_p.S66S|RORA_uc002agw.2_Silent_p.S146S|RORA_uc002agx.2_Silent_p.S121S	NM_134260	NP_599022	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform b	154	NR C4-type.|Nuclear receptor.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						AGCGGTTTCTACTGGTTCGAT	0.473													G	60806876	A	G	60806876	2	3	94	1	0	0	0	0	0	0	0	1	13528	388	14	3		3	RORA	15	60806876	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1376362	60806876	41724516	2545	61678											
VPS13C	54832	broad.mit.edu	37	chr15	62173044	62173044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaataaaaatttttacccGtcttctttcagcttcagggt	6	8	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:62173044G>A	uc002agz.2	-	72	9960	c.9886C>T	c.(9886-9888)CGG>TGG	p.R3296W	VPS13C_uc002aha.2_Missense_Mutation_p.R3253W|VPS13C_uc002ahb.1_Missense_Mutation_p.R3296W|VPS13C_uc002ahc.1_Missense_Mutation_p.R3253W	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3296					protein localization					ovary(2)	2						ATTTTTACCCGTCTTCTTTCA	0.318													A	62173044	G	A	62173044	3	1	94	1	0	0	0	0	1	0	0	0	17188	1144	40	1	1459	1	VPS13C	15	62173044	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1366168	62173044	40358348	2546	61679											
TLN2	83660	broad.mit.edu	37	chr15	62989915	62989915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgcagcagcagttcaacCggaccgggaaggcagagcac	13	12	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:62989915C>T	uc002alb.3	+	12	1321	c.1321C>T	c.(1321-1323)CGG>TGG	p.R441W		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	441					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GCAGTTCAACCGGACCGGGAA	0.627													T	62989915	C	T	62989915	3	4	94	1	0	0	0	0	1	0	0	0	15945	643	23	1	1367	1	TLN2	15	62989915	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	816871	62989915	39541477	2547	61680											
LACTB	114294	broad.mit.edu	37	chr15	63421745	63421745	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagccatagtagagagagcTtcaggatgtaaatatttgga	12	5	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:63421745T>C	uc002alw.2	+	5	1053	c.1014T>C	c.(1012-1014)GCT>GCC	p.A338A	LACTB_uc002alv.2_Silent_p.A338A	NM_032857	NP_116246	P83111	LACTB_HUMAN	lactamase, beta isoform a	338						mitochondrion	hydrolase activity				0						TAGAGAGAGCTTCAGGATGTA	0.383													C	63421745	T	C	63421745	2	2	94	1	0	0	0	0	0	0	0	1	8597	1596	56	3		3	LACTB	15	63421745	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	431830	63421745	39109647	2548	61681											
FBXL22	283807	broad.mit.edu	37	chr15	63889658	63889658	+	Frame_Shift_Del	DEL	T	T	-													gcctgctgcacctcttctccTtcctagacaaggacagcagg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:63889657_63889657CT>C	uc002amn.3	+	0	106	c.48_48CT>C	c.(46-48)tccfs	p.S16fs	LOC100130855_uc002amk.3_Intron|LOC100130855_uc002amj.3_Intron|FBXL22_uc002amm.2_Frame_Shift_Del_p.S16fs	NM_203373	NP_976307	Q6P050	FXL22_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 22 (FBXL22), mRNA.	16	F-box.									lung(4)	4						ACCTCTTCTCCTTCCTAGACA	0.617													-	63889658	T	-	63889658	7	5	94	1	0	1	0	1	0	0	0	0	5719	1609	56	0	51	0	FBXL22	15	63889658	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	467913	63889658	38641734	2549	61682											
HERC1	8925	broad.mit.edu	37	chr15	63933787	63933787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgctgtcctacaggttGccaaaacatgattggcagct	9	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:63933787G>A	uc002amp.2	-	60	11637	c.11489C>T	c.(11488-11490)GCA>GTA	p.A3830V		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3830					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						CCTACAGGTTGCCAAAACATG	0.433													A	63933787	G	A	63933787	3	1	94	1	0	0	0	0	1	0	0	0	7057	1319	46	2	3172	2	HERC1	15	63933787	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	44129	63933787	38597605	2550	61683											
SNX22	79856	broad.mit.edu	37	chr15	64444886	64444886	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctcgaaacgcctgcccaActggaggaccagagggttgg	13	14	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:64444886A>G	uc002anc.1	+	3	268	c.209A>G	c.(208-210)AAC>AGC	p.N70S	SNX22_uc002amz.1_Missense_Mutation_p.N42S|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA	NM_024798	NP_079074	Q96L94	SNX22_HUMAN	sorting nexin 22	70	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding				0						CGCCTGCCCAACTGGAGGACC	0.602													G	64444886	A	G	64444886	3	3	94	1	0	0	0	0	1	0	0	0	14894	43	2	3	219	3	SNX22	15	64444886	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	511099	64444886	38086506	2551	61684											
CSNK1G1	53944	broad.mit.edu	37	chr15	64506165	64506166	+	Frame_Shift_Ins	INS	-	-	T													gttccctataaggtatgtgtINStttttggtttcggggtcaat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:64506164_64506165G>GT	uc002anf.3	-	5	1083_1084	c.603_604C>AC	c.(601-606)aaacacfs	p.K201fs	CSNK1G1_uc002ane.3_Non-coding_Transcript|CSNK1G1_uc002ang.1_Frame_Shift_Ins_p.K201fs|CSNK1G1_uc002anh.1_Frame_Shift_Ins_p.K201fs|CSNK1G1_uc002anj.3_Frame_Shift_Ins_p.K183fs	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	Homo sapiens casein kinase 1, gamma 1 (CSNK1G1), mRNA.	201	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						TAAGGTATGTGTTTTTTGGTTT	0.381													T	64506166	-	T	64506165	7	5	94	1	0	1	1	0	0	0	0	0	3954	1722	60	0	693	0	CSNK1G1	15	64506165	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	61279	64506165	38025227	2552	61685											
TRIP4	9325	broad.mit.edu	37	chr15	64686218	64686218	+	Frame_Shift_Del	DEL	A	A	-													tcctccagggaaatgaaggcAaaaaaggtcaattcatagaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:64686218delA	uc002anm.2	+	2	218	c.175delA	c.(175-177)AAAfs	p.K59fs		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	59					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3						AAATGAAGGCAAAAAAGGTCA	0.383													-	64686218	A	-	64686218	7	5	94	1	0	1	0	1	0	0	0	0	16555	131	5	0	181	0	TRIP4	15	64686218	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	180053	64686218	37845174	2553	61686											
PIF1	80119	broad.mit.edu	37	chr15	65108793	65108793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagactgaggctcctgccccGccgcagggtggcatagaagt	14	13	0	3	rs147060511		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:65108793G>A	uc002ant.2	-	12	1912	c.1846C>T	c.(1846-1848)CGG>TGG	p.R616W	PIF1_uc002anr.2_Missense_Mutation_p.R164W|PIF1_uc002ans.2_Missense_Mutation_p.R307W|PIF1_uc010uiq.1_Missense_Mutation_p.R616W	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	DNA helicase homolog PIF1	616	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding				0						CTCCTGCCCCGCCGCAGGGTG	0.677													A	65108793	G	A	65108793	3	1	94	1	0	0	0	0	1	0	0	0	11883	1086	38	1	87	1	PIF1	15	65108793	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	422575	65108793	37422599	2554	61687											
C15orf44	81556	broad.mit.edu	37	chr15	65891328	65891328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggaatcggtgctctggaGctataaagcaaaacagatga	11	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:65891328G>A	uc002apd.2	-	5	823	c.487C>T	c.(487-489)CTC>TTC	p.L163F	C15orf44_uc010uix.1_Missense_Mutation_p.L199F|C15orf44_uc010uiz.1_Missense_Mutation_p.L127F|C15orf44_uc010uja.1_Missense_Mutation_p.L114F|C15orf44_uc010ujb.1_Missense_Mutation_p.L84F|C15orf44_uc002ape.3_Missense_Mutation_p.L163F|C15orf44_uc010uiy.1_Missense_Mutation_p.L84F	NM_030800	NP_110427	Q96SY0	CO044_HUMAN	hypothetical protein LOC81556 isoform 2	163	VWFA.									ovary(1)	1						GTGCTCTGGAGCTATAAAGCA	0.423													A	65891328	G	A	65891328	3	1	94	1	0	0	0	0	1	0	0	0	1798	985	34	2	1101	2	C15orf44	15	65891328	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	782535	65891328	36640064	2555	61688											
SLC24A1	9187	broad.mit.edu	37	chr15	65917248	65917248	+	Frame_Shift_Del	DEL	A	A	-													ttctccaaggagcgtcatggAaaaaaacaacctgtttcccc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:65917248delA	uc010ujf.1	+	2	1117	c.830delA	c.(829-831)GAAfs	p.E277fs	SLC24A1_uc010ujd.1_Frame_Shift_Del_p.E277fs|SLC24A1_uc010uje.1_Frame_Shift_Del_p.E277fs|SLC24A1_uc010ujg.1_Frame_Shift_Del_p.E277fs|SLC24A1_uc010ujh.1_Frame_Shift_Del_p.E277fs	NM_004727	NP_004718	O60721	NCKX1_HUMAN	solute carrier family 24	277	Extracellular (Potential).				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity				0						AGCGTCATGGAAAAAAACAAC	0.507													-	65917248	A	-	65917248	7	5	94	1	0	1	0	1	0	0	0	0	14465	246	9	0		0	SLC24A1	15	65917248	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	25920	65917248	36614144	2556	61689											
LCTL	197021	broad.mit.edu	37	chr15	66844070	66844070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactgaagcctttggatagCgaggcttatttctgtcgtta	11	7	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:66844070C>T	uc002aqc.2	-	11	1586	c.1454G>A	c.(1453-1455)CGC>CAC	p.R485H	LCTL_uc002aqd.3_Missense_Mutation_p.R312H|LCTL_uc010bhw.2_Intron	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	lactase-like precursor	485	Extracellular (Potential).				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(2)	2						CTTTGGATAGCGAGGCTTATT	0.373													T	66844070	C	T	66844070	3	4	94	1	0	0	0	0	1	0	0	0	8694	768	27	1	261	1	LCTL	15	66844070	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	926822	66844070	35687322	2557	61690											
IQCH	64799	broad.mit.edu	37	chr15	67681234	67681234	+	Frame_Shift_Del	DEL	A	A	-													acgagttagtgctgtattacAaaaaaatcctaagtctacat					rs138548169	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:67681233_67681233CA>C	uc002aqo.2	+	11	1618	c.1521_1521CA>C	c.(1519-1521)tacfs	p.Y507fs	IQCH_uc002aqp.2_Frame_Shift_Del_p.Y259fs|IQCH_uc002aqq.2_Frame_Shift_Del_p.Y255fs	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	507										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TGCTGTATTACAAAAAAATCC	0.408													-	67681234	A	-	67681234	7	5	94	1	0	1	0	1	0	0	0	0	7811	131	5	0	1696	0	IQCH	15	67681234	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	837164	67681234	34850158	2558	61691											
LBXCOR1	390598	broad.mit.edu	37	chr15	68119417	68119417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccggttttaggcgcgggCgagccaaagggcggtcctgg	18	11	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:68119417C>T	uc002aqy.1	+	3	1119	c.1119C>T	c.(1117-1119)GGC>GGT	p.G373G		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	417					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0						TAGGCGCGGGCGAGCCAAAGG	0.403													T	68119417	C	T	68119417	2	4	94	1	0	0	0	0	0	0	0	1	8655	755	27	1		1	LBXCOR1	15	68119417	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	438183	68119417	34411975	2559	61692											
PIAS1	8554	broad.mit.edu	37	chr15	68438952	68438952	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaccaaagcgacccagcCgaccaattaatatcacctca	6	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:68438952C>T	uc002aqz.2	+	6	838	c.742C>T	c.(742-744)CGA>TGA	p.R248*	PIAS1_uc010ujx.1_Nonsense_Mutation_p.R248*	NM_016166	NP_057250	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	248	PINIT.				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						GCGACCCAGCCGACCAATTAA	0.363													T	68438952	C	T	68438952	4	4	94	1	0	0	0	0	0	1	0	0	11875	644	23	1	764	1	PIAS1	15	68438952	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	319535	68438952	34092440	2560	61693											
PIAS1	8554	broad.mit.edu	37	chr15	68445989	68445989	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagttcttcttcagaggtTacgagcaaagggaataagga	11	6	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:68445989T>C	uc002aqz.2	+	7	986	c.890T>C	c.(889-891)TTA>TCA	p.L297S	PIAS1_uc010ujx.1_Missense_Mutation_p.L297S	NM_016166	NP_057250	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	297					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						CTTCAGAGGTTACGAGCAAAG	0.333													C	68445989	T	C	68445989	3	2	94	1	0	0	0	0	1	0	0	0	11875	1764	61	3	916	3	PIAS1	15	68445989	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	7037	68445989	34085403	2561	61694											
GLCE	26035	broad.mit.edu	37	chr15	69560894	69560894	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttgattgcaaaaggtaagGgattcctcgacaacattacc	10	8	0	1	rs143829672	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:69560894G>T	uc002ary.1	+	5	1393	c.1165G>T	c.(1165-1167)GGA>TGA	p.G389*		NM_015554	NP_056369	O94923	GLCE_HUMAN	D-glucuronyl C5-epimerase	389	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			ovary(2)	2						AAAAGGTAAGGGATTCCTCGA	0.463													T	69560894	G	T	69560894	4	4	94	1	0	0	0	0	0	1	0	0	6432	1233	43	5	1175	5	GLCE	15	69560894	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1114905	69560894	32970498	2562	61695											
UACA	55075	broad.mit.edu	37	chr15	70961076	70961076	+	Frame_Shift_Del	DEL	T	T	-													tctctttccatttctactaaTttttttgctttctcattcac							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:70961075_70961075AT>A	uc002asr.3	-	15	2052	c.1948_1948AT>T	c.(1948-1950)ttafs	p.L650fs	UACA_uc010uke.2_Frame_Shift_Del_p.L541fs|UACA_uc002asq.3_Frame_Shift_Del_p.L637fs|UACA_uc010bin.1_Frame_Shift_Del_p.L625fs	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	650						cytoskeleton|extracellular region		p.E650D(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATTTCTACTAATTTTTTTGCT	0.348													-	70961076	T	-	70961076	7	5	94	1	0	1	0	1	0	0	0	0	16821	1490	52	0	2319	0	UACA	15	70961076	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	1400182	70961076	31570316	2563	61696											
UACA	55075	broad.mit.edu	37	chr15	70963407	70963407	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccatatacatctgaccttGtttaagaagcatatcttctt	5	9	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:70963407G>A	uc002asr.2	-	15	1296	c.1192C>T	c.(1192-1194)CAA>TAA	p.Q398*	UACA_uc010uke.1_Nonsense_Mutation_p.Q289*|UACA_uc002asq.2_Nonsense_Mutation_p.Q385*|UACA_uc010bin.1_Nonsense_Mutation_p.Q373*	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	398						cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						ATCTGACCTTGTTTAAGAAGC	0.244													A	70963407	G	A	70963407	4	1	94	1	0	0	0	0	0	1	0	0	16821	1386	48	4	3078	4	UACA	15	70963407	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2331	70963407	31567985	2564	61697											
NR2E3	10002	broad.mit.edu	37	chr15	72103855	72103855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctccagtgccgcgtgtgcGgagacagcagcagcgggaag	17	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:72103855G>A	uc002ati.2	+	2	341	c.151G>A	c.(151-153)GGA>AGA	p.G51R	NR2E3_uc002ath.1_Missense_Mutation_p.G51R	NM_014249	NP_055064	Q9Y5X4	NR2E3_HUMAN	photoreceptor-specific nuclear receptor isoform	51	NR C4-type.|Nuclear receptor.				phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0						CCGCGTGTGCGGAGACAGCAG	0.517													A	72103855	G	A	72103855	3	1	94	1	0	0	0	0	1	0	0	0	10626	1117	39	1	157	1	NR2E3	15	72103855	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1140448	72103855	30427537	2565	61698											
C15orf59	388135	broad.mit.edu	37	chr15	74032580	74032580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcactttgtcactgaacCgcaccctctcccgtgtccct	7	17	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:74032580C>T	uc002avy.2	-	2	905	c.560G>A	c.(559-561)CGG>CAG	p.R187Q		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	hypothetical protein LOC388135	187										pancreas(1)	1						GTCACTGAACCGCACCCTCTC	0.488													T	74032580	C	T	74032580	3	4	94	1	0	0	0	0	1	0	0	0	1807	652	23	1	325	1	C15orf59	15	74032580	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1928725	74032580	28498812	2566	61699											
LOXL1	4016	broad.mit.edu	37	chr15	74240214	74240214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccagtggatcgacataaccGacgtgcagcctgggaactac	12	12	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:74240214G>A	uc002awc.1	+	5	1909	c.1573G>A	c.(1573-1575)GAC>AAC	p.D525N	LOXL1_uc002awd.1_RNA	NM_005576	NP_005567	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1 preproprotein	525	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding				0						CGACATAACCGACGTGCAGCC	0.577													A	74240214	G	A	74240214	3	1	94	1	0	0	0	0	1	0	0	0	8899	1058	37	1	1591	1	LOXL1	15	74240214	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	207634	74240214	28291178	2567	61700											
ISLR2	57611	broad.mit.edu	37	chr15	74426494	74426494	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaacggggacccctctcggTacgtttctaaccacgcgttc	10	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:74426494T>C	uc002axd.2	+	4	2168	c.1399T>C	c.(1399-1401)TAC>CAC	p.Y467H	ISLR2_uc002axe.2_Missense_Mutation_p.Y467H|ISLR2_uc010bjg.2_Missense_Mutation_p.Y467H|ISLR2_uc010bjf.2_Missense_Mutation_p.Y467H	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	467	Extracellular (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						CCCCTCTCGGTACGTTTCTAA	0.672													C	74426494	T	C	74426494	3	2	94	1	0	0	0	0	1	0	0	0	7859	1638	57	3	1401	3	ISLR2	15	74426494	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	186280	74426494	28104898	2568	61701											
STRA6	64220	broad.mit.edu	37	chr15	74472489	74472489	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagggttgggttgtgcaGcagcgtgtaggccagacccc	16	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:74472489G>T	uc002axk.2	-	19	2118	c.1936C>A	c.(1936-1938)CTG>ATG	p.L646M	STRA6_uc002axi.2_Missense_Mutation_p.L455M|STRA6_uc010ulh.1_Missense_Mutation_p.L684M|STRA6_uc002axj.2_Missense_Mutation_p.L685M|STRA6_uc010bji.2_Missense_Mutation_p.L646M|STRA6_uc002axl.2_Missense_Mutation_p.L578M|STRA6_uc002axm.2_Missense_Mutation_p.L646M|STRA6_uc002axn.2_Missense_Mutation_p.L637M|STRA6_uc010uli.1_Missense_Mutation_p.L683M	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid gene 6 homolog	646	Cytoplasmic (Potential).				adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			central_nervous_system(1)	1						GGGTTGTGCAGCAGCGTGTAG	0.662													T	74472489	G	T	74472489	3	4	94	1	0	0	0	0	1	0	0	0	15321	962	34	5	71	5	STRA6	15	74472489	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	45995	74472489	28058903	2569	61702											
ARID3B	10620	broad.mit.edu	37	chr15	74883692	74883692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctccccacccaagatccGctttcccatccttgggcttg	6	18	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:74883692G>A	uc002aye.2	+	6	1283	c.1082G>A	c.(1081-1083)CGC>CAC	p.R361H	ARID3B_uc002ayd.2_Missense_Mutation_p.R361H|ARID3B_uc010bjs.1_Missense_Mutation_p.R66H	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B	361	Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						CCCAAGATCCGCTTTCCCATC	0.632													A	74883692	G	A	74883692	3	1	94	1	0	0	0	0	1	0	0	0	917	1087	38	1	1100	1	ARID3B	15	74883692	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	411203	74883692	27647700	2570	61703											
MAN2C1	4123	broad.mit.edu	37	chr15	75656966	75656966	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgcttcccttcccggcccCcaggagcccattgcaggcta	9	18	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:75656966C>A	uc002baf.2	-	5	480	c.463G>T	c.(463-465)GGG>TGG	p.G155W	MAN2C1_uc002bag.2_Missense_Mutation_p.G155W|MAN2C1_uc002bah.2_Missense_Mutation_p.G155W|MAN2C1_uc010bkk.2_Missense_Mutation_p.G155W|MAN2C1_uc010umi.1_Intron|MAN2C1_uc010umj.1_RNA|MAN2C1_uc010umk.1_RNA	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	155					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						TTCCCGGCCCCCAGGAGCCCA	0.592													A	75656966	C	A	75656966	3	1	94	1	0	0	0	0	1	0	0	0	9218	623	22	5	2747	5	MAN2C1	15	75656966	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	773274	75656966	26874426	2571	61704											
SCAPER	49855	broad.mit.edu	37	chr15	76643603	76643603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttggtaaggctggttttcCgcttgacctggagtctgtgc	15	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:76643603C>T	uc002bby.2	-	30	4133	c.4074G>A	c.(4072-4074)GCG>GCA	p.A1358A	SCAPER_uc010bkr.2_Silent_p.A616A|SCAPER_uc002bbx.2_Silent_p.A1112A	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1357						endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						GCTGGTTTTCCGCTTGACCTG	0.383													T	76643603	C	T	76643603	2	4	94	1	0	0	0	0	0	0	0	1	13878	639	23	1		1	SCAPER	15	76643603	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	986637	76643603	25887789	2572	61705											
CTSH	1512	broad.mit.edu	37	chr15	79231492	79231492	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcactgaccttagacatcCatgacttgaagtgaaacttc	9	10	0	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:79231492C>A	uc002ben.2	-	3	174	c.77G>T	c.(76-78)TGG>TTG	p.W26L	CTSH_uc010unf.1_RNA|CTSH_uc010bll.1_Intron|CTSH_uc010ung.1_Missense_Mutation_p.W38L	NM_148979	NP_683880	P09668	CATH_HUMAN	cathepsin H isoform b precursor	38					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(2)|large_intestine(1)	3						CTTAGACATCCATGACTTGAA	0.363													A	79231492	C	A	79231492	3	1	94	1	0	0	0	0	1	0	0	0	4036	595	21	5	938	5	CTSH	15	79231492	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2587889	79231492	23299900	2573	61706											
MESDC1	59274	broad.mit.edu	37	chr15	81295494	81295494	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctgggcggcgccatgagCgtggtgtcggcctgcgtgct	17	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:81295494C>T	uc002bfz.2	+	1	2200	c.882C>T	c.(880-882)AGC>AGT	p.S294S		NM_022566	NP_072088	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	294											0						GCGCCATGAGCGTGGTGTCGG	0.706													T	81295494	C	T	81295494	2	4	94	1	0	0	0	0	0	0	0	1	9480	767	27	1		1	MESDC1	15	81295494	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2064002	81295494	21235898	2574	61707											
IL16	3603	broad.mit.edu	37	chr15	81593720	81593720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatatacagagggtctcaCggaagccaaggaagacgatg	13	7	1	3	rs149220649		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:81593720C>T	uc002bgh.3	+	15	3561	c.3185C>T	c.(3184-3186)ACG>ATG	p.T1062M	IL16_uc010blq.1_Missense_Mutation_p.T1016M|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.T1104M|IL16_uc002bgg.2_Missense_Mutation_p.T1062M|IL16_uc002bgi.1_Missense_Mutation_p.T452M|IL16_uc002bgj.2_Missense_Mutation_p.T556M|IL16_uc002bgk.2_Missense_Mutation_p.T361M|IL16_uc002bgl.1_Missense_Mutation_p.T361M|IL16_uc010unq.1_Missense_Mutation_p.T361M	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	1062	Interaction with HTLV-1 tax.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						GAGGGTCTCACGGAAGCCAAG	0.408													T	81593720	C	T	81593720	3	4	94	1	0	0	0	0	1	0	0	0	7633	536	19	1	3239	1	IL16	15	81593720	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	298226	81593720	20937672	2575	61708											
WHAMM	123720	broad.mit.edu	37	chr15	83502091	83502091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatcaatgagcacattctgGctgccataaggcaaggggtc	11	10	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:83502091G>A	uc002bje.2	+	10	2739	c.2233G>A	c.(2233-2235)GCT>ACT	p.A745T		NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi	745	WH2 2.					cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding				0						GCACATTCTGGCTGCCATAAG	0.567													A	83502091	G	A	83502091	3	1	94	1	0	0	0	0	1	0	0	0	17358	1203	42	2	2271	2	WHAMM	15	83502091	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1908371	83502091	19029301	2576	61709											
BTBD1	53339	broad.mit.edu	37	chr15	83710649	83710649	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctttctcgaatactgagtgtGtctctctctaaaactgcaca	6	11	3	1	rs144730017		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:83710649G>C	uc002bjn.2	-	4	896	c.693C>G	c.(691-693)GAC>GAG	p.D231E	BTBD1_uc002bjo.2_Missense_Mutation_p.D231E	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1 isoform 1	231						cytoplasmic mRNA processing body|protein complex	protein binding			ovary(1)|central_nervous_system(1)	2				all cancers(203;0.000186)		TACTGAGTGTGTCTCTCTCTA	0.388													C	83710649	G	C	83710649	3	2	94	1	0	0	0	0	1	0	0	0	1537	1368	48	5	775	5	BTBD1	15	83710649	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	208558	83710649	18820743	2577	61710											
ALPK3	57538	broad.mit.edu	37	chr15	85383636	85383636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccagaggcagggctgcaCgggggcctgggtcctctggc	18	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:85383636C>T	uc002ble.2	+	5	1899	c.1732C>T	c.(1732-1734)CGG>TGG	p.R578W		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	578					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGGGCTGCACGGGGGCCTGG	0.667													T	85383636	C	T	85383636	3	4	94	1	0	0	0	0	1	0	0	0	546	527	19	1	1750	1	ALPK3	15	85383636	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1672987	85383636	17147756	2578	61711											
AKAP13	11214	broad.mit.edu	37	chr15	86122437	86122437	+	Frame_Shift_Del	DEL	G	G	-													ataaaggcgtggaaagaaaaGgggaagaggtggagccagca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:86122437delG	uc002blv.1	+	7	1308	c.1138delG	c.(1138-1140)GGGfs	p.G380fs	AKAP13_uc002blt.1_Frame_Shift_Del_p.G380fs|AKAP13_uc002blu.1_Frame_Shift_Del_p.G380fs	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	380					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						GGAAAGAAAAGGGGAAGAGGT	0.478													-	86122437	G	-	86122437	7	5	94	1	0	1	0	1	0	0	0	0	449	1000	35	0	1160	0	AKAP13	15	86122437	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	738801	86122437	16408955	2579	61712											
AKAP13	11214	broad.mit.edu	37	chr15	86287017	86287017	+	Frame_Shift_Del	DEL	A	A	-													agccaaaggaaaagaaggagAaaaaaaagaagaacaaaacc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:86287017delA	uc002blv.1	+	36	8523	c.8353delA	c.(8353-8355)AAAfs	p.K2785fs	AKAP13_uc002blu.1_Frame_Shift_Del_p.K2789fs|AKAP13_uc002blw.1_Frame_Shift_Del_p.K1250fs|AKAP13_uc002blx.1_Frame_Shift_Del_p.K1030fs	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2785	Interaction with ESR1.|Poly-Lys.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						AAAGAAGGAGAAAAAAAAGAA	0.542													-	86287017	A	-	86287017	7	5	94	1	0	1	0	1	0	0	0	0	449	247	9	0	8561	0	AKAP13	15	86287017	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	164580	86287017	16244375	2580	61713											
AGBL1	123624	broad.mit.edu	37	chr15	87217585	87217585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctggagctcaaatctGccagctgcagccatcagctc	8	15	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:87217585G>A	uc002blz.1	+	22	3081	c.3001G>A	c.(3001-3003)GCC>ACC	p.A1001T		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1001					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						GCTCAAATCTGCCAGCTGCAG	0.557													A	87217585	G	A	87217585	3	1	94	1	0	0	0	0	1	0	0	0	375	1319	46	2	3083	2	AGBL1	15	87217585	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	930568	87217585	15313807	2581	61714											
NTRK3	4916	broad.mit.edu	37	chr15	88680751	88680751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccagagctgcatccagCggatgtcacagctgcagttg	12	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:88680751C>T	uc002bme.1	-	6	668	c.506G>A	c.(505-507)CGC>CAC	p.R169H	NTRK3_uc002bmh.2_Missense_Mutation_p.R169H|NTRK3_uc002bmf.1_Missense_Mutation_p.R169H|NTRK3_uc010upl.1_Missense_Mutation_p.R71H|NTRK3_uc010bnh.1_Missense_Mutation_p.R169H|NTRK3_uc002bmg.2_Missense_Mutation_p.R169H	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	169	Extracellular (Potential).|LRRCT.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTGCATCCAGCGGATGTCACA	0.582			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			T	88680751	C	T	88680751	3	4	94	1	0	0	0	0	1	0	0	0	10708	768	27	1	2331	1	NTRK3	15	88680751	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1463166	88680751	13850641	2582	61715											
AEN	64782	broad.mit.edu	37	chr15	89172551	89172551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccctcggagccagacccGggatacgacctatgtcccaa	9	17	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:89172551G>A	uc002bmt.2	+	3	786	c.635G>A	c.(634-636)CGG>CAG	p.R212Q	AEN_uc010bnm.1_Missense_Mutation_p.R212Q	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN	interferon stimulated exonuclease gene	212	Exonuclease.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding				0						AGCCAGACCCGGGATACGACC	0.622													A	89172551	G	A	89172551	3	1	94	1	0	0	0	0	1	0	0	0	351	1116	39	1	641	1	AEN	15	89172551	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	491800	89172551	13358841	2583	61716											
POLG	5428	broad.mit.edu	37	chr15	89864087	89864087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttaaactgcattagtaagCgctcagcaaagggctgccca	11	10	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:89864087C>T	uc002bns.3	-	18	3173	c.2891G>A	c.(2890-2892)CGC>CAC	p.R964H	POLG_uc002bnr.3_Missense_Mutation_p.R964H	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	964					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CATTAGTAAGCGCTCAGCAAA	0.577								DNA_polymerases_(catalytic_subunits)					T	89864087	C	T	89864087	3	4	94	1	0	0	0	0	1	0	0	0	12200	768	27	1	852	1	POLG	15	89864087	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	691536	89864087	12667305	2584	61717											
POLG	5428	broad.mit.edu	37	chr15	89876391	89876391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgccaagcagacctccaCgtcgaacaccagggcccgct	9	18	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:89876391C>T	uc002bns.3	-	2	877	c.595G>A	c.(595-597)GTG>ATG	p.V199M	POLG_uc002bnr.3_Missense_Mutation_p.V199M	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	199					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CAGACCTCCACGTCGAACACC	0.697								DNA_polymerases_(catalytic_subunits)					T	89876391	C	T	89876391	3	4	94	1	0	0	0	0	1	0	0	0	12200	536	19	1	3212	1	POLG	15	89876391	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	12304	89876391	12655001	2585	61718											
POLG	5428	broad.mit.edu	37	chr15	89876408	89876408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgtcgaacaccagggccCgctcctcggggatggccacg	13	17	0	0	rs3176162	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:89876408C>T	uc002bns.3	-	2	860	c.578G>A	c.(577-579)CGG>CAG	p.R193Q	POLG_uc002bnr.3_Missense_Mutation_p.R193Q	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	193					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CACCAGGGCCCGCTCCTCGGG	0.716								DNA_polymerases_(catalytic_subunits)					T	89876408	C	T	89876408	3	4	94	1	0	0	0	0	1	0	0	0	12200	652	23	1	3229	1	POLG	15	89876408	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	17	89876408	12654984	2586	61719											
C15orf42	90381	broad.mit.edu	37	chr15	90146028	90146028	+	Frame_Shift_Del	DEL	A	A	-													ctatttctatttttaaaaggAaaaatgcattaataagacat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:90146028delA	uc002boe.2	+	13	2569	c.2569delA	c.(2569-2571)AAAfs	p.K857fs		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	857					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TTTTAAAAGGAAAAATGCATT	0.264													-	90146028	A	-	90146028	7	5	94	1	0	1	0	1	0	0	0	0	1796	260	9	0	2619	0	C15orf42	15	90146028	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	269620	90146028	12385364	2587	61720											
ZNF710	374655	broad.mit.edu	37	chr15	90616474	90616474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgattgtacactcgcccGtgaagccattcaaatgcaag	8	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:90616474G>A	uc002bov.1	+	3	1753	c.1630G>A	c.(1630-1632)GTG>ATG	p.V544M		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			ACACTCGCCCGTGAAGCCATT	0.592													A	90616474	G	A	90616474	3	1	94	1	0	0	0	0	1	0	0	0	18112	1145	40	1	1636	1	ZNF710	15	90616474	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	470446	90616474	11914918	2588	61721											
UNC45A	55898	broad.mit.edu	37	chr15	91488239	91488239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagctctttgatgaccTcaagtgtgatgcggagaggg	14	8	2	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:91488239T>C	uc002bqg.2	+	9	1485	c.1145T>C	c.(1144-1146)CTC>CCC	p.L382P	UNC45A_uc002bqd.2_Missense_Mutation_p.L367P	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform	382					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TTTGATGACCTCAAGTGTGAT	0.527													C	91488239	T	C	91488239	3	2	94	1	0	0	0	0	1	0	0	0	16985	1551	54	3	1179	3	UNC45A	15	91488239	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	871765	91488239	11043153	2589	61722											
MCTP2	55784	broad.mit.edu	37	chr15	94942207	94942207	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagattagagatggacaaccGaattgttatgtactaaagaa	9	5	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:94942207G>A	uc002btj.2	+	14	1871	c.1806G>A	c.(1804-1806)CCG>CCA	p.P602P	MCTP2_uc010boj.2_Silent_p.P331P|MCTP2_uc010bok.2_Silent_p.P602P|MCTP2_uc002btk.3_Silent_p.P190P|MCTP2_uc002btl.2_Silent_p.P190P	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	602					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ATGGACAACCGAATTGTTATG	0.313													A	94942207	G	A	94942207	2	1	94	1	0	0	0	0	0	0	0	1	9401	1045	37	1		1	MCTP2	15	94942207	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3453968	94942207	7589185	2590	61723											
SPATA8	145946	broad.mit.edu	37	chr15	97328284	97328284	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcgaagggtgccatctgcTtccccactgattcagaagat	11	11	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:97328284T>C	uc002bue.2	+	3	465	c.255T>C	c.(253-255)GCT>GCC	p.A85A	uc010urp.1_5'Flank|uc002bud.1_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	85										ovary(1)|skin(1)	2	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			TGCCATCTGCTTCCCCACTGA	0.448													C	97328284	T	C	97328284	2	2	94	1	0	0	0	0	0	0	0	1	15014	1596	56	3		3	SPATA8	15	97328284	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2386077	97328284	5203108	2591	61724											
IGF1R	3480	broad.mit.edu	37	chr15	99442758	99442758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcatcgaggtggtgacGggctacgtgaagatccgcca	16	10	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:99442758G>A	uc002bul.2	+	5	1205	c.1155G>A	c.(1153-1155)ACG>ACA	p.T385T	IGF1R_uc010urq.1_Silent_p.T385T|IGF1R_uc010bon.2_Silent_p.T385T	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	385					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	AGGTGGTGACGGGCTACGTGA	0.507													A	99442758	G	A	99442758	2	1	94	1	0	0	0	0	0	0	0	1	7571	1103	39	1		1	IGF1R	15	99442758	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2114474	99442758	3088634	2592	61725											
TTC23	64927	broad.mit.edu	37	chr15	99696478	99696478	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccactttggcttccagggActctctcaggatcgaggttg	11	11	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:99696478A>G	uc002bur.2	-	11	1549	c.1018T>C	c.(1018-1020)TCC>CCC	p.S340P	TTC23_uc002bus.2_Missense_Mutation_p.S340P|TTC23_uc002but.2_Missense_Mutation_p.S340P|TTC23_uc002buu.2_Missense_Mutation_p.S340P|TTC23_uc002buv.2_Missense_Mutation_p.S340P|TTC23_uc002bux.2_Missense_Mutation_p.S340P|TTC23_uc002buw.2_Missense_Mutation_p.S340P|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Missense_Mutation_p.S340P|TTC23_uc010bor.2_Missense_Mutation_p.S340P|TTC23_uc002buz.2_Missense_Mutation_p.S340P	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	340							binding				0	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GCTTCCAGGGACTCTCTCAGG	0.507													G	99696478	A	G	99696478	3	3	94	1	0	0	0	0	1	0	0	0	16687	275	10	3	337	3	TTC23	15	99696478	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	253720	99696478	2834914	2593	61726											
TTC23	64927	broad.mit.edu	37	chr15	99740304	99740304	+	Splice_Site	DEL	A	A	-													ttctgaccttgatacaccctAaaaaaatcaaaggaattatt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:99740303_99740303TA>T	uc002bur.3	-	8	1113	c.582_splice	c.e8-1	p.Q194_splice	TTC23_uc002bus.3_Splice_Site_p.Q194_splice|TTC23_uc002but.3_Splice_Site_p.Q194_splice|TTC23_uc002buu.3_Splice_Site_p.Q194_splice|TTC23_uc002buv.3_Splice_Site_p.Q194_splice|TTC23_uc002bux.3_Splice_Site_p.Q194_splice|TTC23_uc002buw.3_Splice_Site_p.Q194_splice|TTC23_uc010boq.3_Splice_Site|TTC23_uc002buy.3_Splice_Site_p.Q194_splice|TTC23_uc010bor.3_Splice_Site_p.Q194_splice|TTC23_uc002buz.2_Splice_Site_p.Q194_splice	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	Homo sapiens tetratricopeptide repeat domain 23 (TTC23), transcript variant 2, mRNA.	194							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TGATACACCCTAAAAAAATCA	0.348													-	99740304	A	-	99740304	8	5	94	1	0	1	0	1	0	0	1	0	16687	377	13	0		0	TTC23	15	99740304	Splice_Site	DEL	A	TCGA-BR-8487-01A-11D-2394-08	43826	99740304	2791088	2594	61727											
LINS1	55180	broad.mit.edu	37	chr15	101112175	101112175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcttgttctatgaaaacccGagacagccatttgcacggat	9	10	2	2	rs140752023		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:101112175G>A	uc002bwe.2	-	7	1609	c.1318C>T	c.(1318-1320)CGG>TGG	p.R440W	LINS1_uc002bwd.2_Missense_Mutation_p.R27W|LINS1_uc002bwf.2_Missense_Mutation_p.R440W|LINS1_uc002bwg.2_Missense_Mutation_p.R440W|LINS1_uc002bwh.2_Missense_Mutation_p.R440W	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	lines homolog 1	440											0	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			ATGAAAACCCGAGACAGCCAT	0.433													A	101112175	G	A	101112175	3	1	94	1	0	0	0	0	1	0	0	0	8818	1057	37	1	963	1	LINS1	15	101112175	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1371871	101112175	1419217	2595	61728											
LINS1	55180	broad.mit.edu	37	chr15	101114004	101114004	+	Frame_Shift_Del	DEL	T	T	-													tcacctccaaaaaaggaatgTttttcataaacagacagtgt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:101114004delT	uc002bwe.2	-	6	1365	c.1074delA	c.(1072-1074)AAAfs	p.K358fs	LINS1_uc002bwd.2_5'Flank|LINS1_uc002bwf.2_Frame_Shift_Del_p.K358fs|LINS1_uc002bwg.2_Frame_Shift_Del_p.K358fs|LINS1_uc002bwh.2_Frame_Shift_Del_p.K358fs|LINS1_uc010usa.1_Frame_Shift_Del_p.K239fs|LINS1_uc002bwi.2_Frame_Shift_Del_p.K358fs	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	lines homolog 1	358											0	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			AAAAGGAATGTTTTTCATAAA	0.413													-	101114004	T	-	101114004	7	5	94	1	0	1	0	1	0	0	0	0	8818	1722	60	0	1211	0	LINS1	15	101114004	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	1829	101114004	1417388	2596	61729											
SNRPA1	6627	broad.mit.edu	37	chr15	101832204	101832204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattggtgagaatgagttctGtcagacagggcagagcctga	14	6	2	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:101832204G>A	uc002bww.2	-	3	349	c.272C>T	c.(271-273)ACA>ATA	p.T91I	SNRPA1_uc002bwx.2_Intron|SNRPA1_uc010bpc.2_Intron	NM_003090	NP_003081	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	91	LRR 4.					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			kidney(1)	1	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AATGAGTTCTGTCAGACAGGG	0.383													A	101832204	G	A	101832204	3	1	94	1	0	0	0	0	1	0	0	0	14860	1377	48	4	523	4	SNRPA1	15	101832204	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	718200	101832204	699188	2597	61730											
RHBDF1	64285	broad.mit.edu	37	chr16	112645	112645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgctgcctccgatggggactCgaaaacttcatccgggtatg	12	12	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:112645C>T	uc002cfl.3	-	10	992	c.844G>A	c.(844-846)GAG>AAG	p.E282K	RHBDF1_uc010uty.1_Missense_Mutation_p.E305K|RHBDF1_uc010utz.1_Missense_Mutation_p.E282K|RHBDF1_uc010bqo.1_RNA	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	282	Cytoplasmic (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GATGGGGACTCGAAAACTTCA	0.622													T	112645	C	T	112645	3	4	94	1	0	0	0	0	1	0	0	0	13319	893	31	1	1771	1	RHBDF1	16	112645	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08		112645	90242108	2598	61731											
ITFG3	83986	broad.mit.edu	37	chr16	304591	304591	+	Frame_Shift_Del	DEL	T	T	-													tctttcattgtttctctgccTttttgtggtgttcgtcgtct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:304591delT	uc002cgf.2	+	3	374	c.179delT	c.(178-180)CTTfs	p.L60fs	ITFG3_uc010bqr.2_Intron|ITFG3_uc002cgg.2_Frame_Shift_Del_p.L60fs|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Frame_Shift_Del_p.L60fs	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	60	Helical; Signal-anchor for type II membrane protein; (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TTTCTCTGCCTTTTTGTGGTG	0.557													-	304591	T	-	304591	7	5	94	1	0	1	0	1	0	0	0	0	7871	1609	56	0	181	0	ITFG3	16	304591	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	191946	304591	90050162	2599	61732											
PIGQ	9091	broad.mit.edu	37	chr16	624123	624123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcgtctcgacggacagcGggctgctggtgggacggtgg	20	10	1	0	rs149108761		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:624123G>A	uc002cho.2	+	2	151	c.49G>A	c.(49-51)GGG>AGG	p.G17R	PIGQ_uc010bqw.2_Missense_Mutation_p.G17R|PIGQ_uc002chm.2_Missense_Mutation_p.G17R|PIGQ_uc002chn.2_Missense_Mutation_p.G17R|PIGQ_uc010uui.1_Missense_Mutation_p.G31R	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	17					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)	1		Hepatocellular(780;0.00335)				GACGGACAGCGGGCTGCTGGT	0.667													A	624123	G	A	624123	3	1	94	1	0	0	0	0	1	0	0	0	11896	1116	39	1	51	1	PIGQ	16	624123	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	319532	624123	89730630	2600	61733											
PIGQ	9091	broad.mit.edu	37	chr16	624252	624252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggccagccaggtgggcGtggccgtgctgggcacctgg	20	12	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:624252G>A	uc002cho.2	+	2	280	c.178G>A	c.(178-180)GTG>ATG	p.V60M	PIGQ_uc010bqw.2_Missense_Mutation_p.V60M|PIGQ_uc002chm.2_Missense_Mutation_p.V60M|PIGQ_uc002chn.2_Missense_Mutation_p.V60M|PIGQ_uc010uui.1_Missense_Mutation_p.V74M	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	60					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)	1		Hepatocellular(780;0.00335)				CCAGGTGGGCGTGGCCGTGCT	0.701													A	624252	G	A	624252	3	1	94	1	0	0	0	0	1	0	0	0	11896	1145	40	1	180	1	PIGQ	16	624252	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	129	624252	89730501	2601	61734											
WFIKKN1	117166	broad.mit.edu	37	chr16	683446	683446	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggctttgagacctacgagGcatgccagcaggcctgtgcc	14	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:683446G>T	uc002cht.1	+	2	1278	c.1036G>T	c.(1036-1038)GCA>TCA	p.A346S	WFIKKN1_uc002chs.1_3'UTR	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz	346	BPTI/Kunitz inhibitor 1.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity				0		Hepatocellular(780;0.00335)				GACCTACGAGGCATGCCAGCA	0.746													T	683446	G	T	683446	3	4	94	1	0	0	0	0	1	0	0	0	17355	1203	42	5	1042	5	WFIKKN1	16	683446	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	59194	683446	89671307	2602	61735											
WDR90	197335	broad.mit.edu	37	chr16	700148	700148	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagcacttcgtcatccAcctcgatgtgtcctccaagg	8	15	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:700148A>G	uc002cii.1	+	3	314	c.260A>G	c.(259-261)CAC>CGC	p.H87R	WDR90_uc002cig.1_Missense_Mutation_p.H87R|WDR90_uc002cih.1_Missense_Mutation_p.H87R|WDR90_uc002cij.1_RNA	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	87										ovary(1)	1		Hepatocellular(780;0.0218)				TTCGTCATCCACCTCGATGTG	0.667													G	700148	A	G	700148	3	3	94	1	0	0	0	0	1	0	0	0	17334	159	6	3	270	3	WDR90	16	700148	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	16702	700148	89654605	2603	61736											
WDR90	197335	broad.mit.edu	37	chr16	716929	716929	+	Frame_Shift_Del	DEL	T	T	-													tggagaagataccactgcccTtttttgccatgtccctgagc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:716928_716928CT>C	uc002cii.1	+	39	5082	c.5028_5028CT>C	c.(5026-5028)cccfs	p.P1676fs	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cin.1_Frame_Shift_Del_p.P291fs|WDR90_uc002cio.1_Frame_Shift_Del_p.P275fs|WDR90_uc010bqx.1_Frame_Shift_Del_p.P227fs|RHOT2_uc010uum.2_5'Flank|RHOT2_uc002cip.3_5'Flank|RHOT2_uc002ciq.3_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1676										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TACCACTGCCCTTTTTTGCCA	0.632													-	716929	T	-	716929	7	5	94	1	0	1	0	1	0	0	0	0	17334	1609	56	0	5187	0	WDR90	16	716929	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	16781	716929	89637824	2604	61737											
HAGHL	84264	broad.mit.edu	37	chr16	779157	779157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggcatctggggactgcGtgttgggctgagtgagcatc	18	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:779157G>A	uc002cjl.1	+	7	1143	c.862G>A	c.(862-864)GTG>ATG	p.V288M	CCDC78_uc002cji.3_5'Flank|CCDC78_uc002cjg.2_5'Flank|CCDC78_uc002cjj.3_5'Flank|CCDC78_uc002cjh.2_5'Flank|CCDC78_uc010uuo.1_5'Flank|CCDC78_uc002cjk.2_5'Flank|HAGHL_uc002cjm.1_3'UTR|HAGHL_uc002cjn.1_3'UTR|HAGHL_uc002cjo.1_Intron|HAGHL_uc010uup.1_3'UTR	NM_207112	NP_996995	Q6PII5	HAGHL_HUMAN	hydroxyacylglutathione hydrolase-like isoform 1	288							hydrolase activity|metal ion binding				0		Hepatocellular(780;0.00335)				TGGGGACTGCGTGTTGGGCTG	0.667													A	779157	G	A	779157	3	1	94	1	0	0	0	0	1	0	0	0	6946	1145	40	1	884	1	HAGHL	16	779157	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	62228	779157	89575596	2605	61738											
NARFL	64428	broad.mit.edu	37	chr16	780543	780543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagctcctgaaccccaggCgcgtcctcgggcgcctcagc	11	18	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:780543C>T	uc002cjr.2	-	11	1317	c.1305G>A	c.(1303-1305)GCG>GCA	p.A435A	NARFL_uc002cjp.2_Silent_p.A333A|NARFL_uc002cjq.2_Silent_p.A333A|NARFL_uc002cjs.2_Silent_p.A217A	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	435					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding				0		Hepatocellular(780;0.0218)				GAACCCCAGGCGCGTCCTCGG	0.677													T	780543	C	T	780543	2	4	94	1	0	0	0	0	0	0	0	1	10168	755	27	1		1	NARFL	16	780543	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1386	780543	89574210	2606	61739											
MSLNL	401827	broad.mit.edu	37	chr16	819623	819623	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggtaccccaggggggcCcacaggctgcctgtagatgg	17	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:819623C>A	uc002cjz.1	-	16	2967	c.2967G>T	c.(2965-2967)TGG>TGT	p.W989C	MIR662_hsa-mir-662|MI0003670_5'Flank	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	638	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4						CCAGGGGGGCCCACAGGCTGC	0.652													A	819623	C	A	819623	3	1	94	1	0	0	0	0	1	0	0	0	9882	624	22	5	198	5	MSLNL	16	819623	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	39080	819623	89535130	2607	61740											
LMF1	64788	broad.mit.edu	37	chr16	1004665	1004665	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagccaccaggaatgccacGactggaagaaaaagaagaca	10	9	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:1004665G>A	uc002ckj.2	-	2	199	c.195C>T	c.(193-195)TTC>TTT	p.F65F	LMF1_uc010brh.2_5'UTR|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_5'UTR|LMF1_uc010uuu.1_RNA|LMF1_uc010uuv.1_RNA	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	lipase maturation factor 1	65	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0		Hepatocellular(780;0.00308)				GGAATGCCACGACTGGAAGAA	0.547													A	1004665	G	A	1004665	2	1	94	1	0	0	0	0	0	0	0	1	8845	1072	37	1		1	LMF1	16	1004665	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	185042	1004665	89350088	2608	61741											
CACNA1H	8912	broad.mit.edu	37	chr16	1250483	1250483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcaactggaaccagtactAcaacgtgtgccgctcgggtg	11	12	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:1250483A>G	uc002cks.2	+	7	1279	c.1031A>G	c.(1030-1032)TAC>TGC	p.Y344C	CACNA1H_uc002ckt.2_Missense_Mutation_p.Y344C	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	344	Extracellular (Potential).|I.				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AACCAGTACTACAACGTGTGC	0.647													G	1250483	A	G	1250483	3	3	94	1	0	0	0	0	1	0	0	0	2545	391	14	3	1053	3	CACNA1H	16	1250483	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	245818	1250483	89104270	2609	61742											
CACNA1H	8912	broad.mit.edu	37	chr16	1270119	1270119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccccaccacgctccccaCggcccgccagcgtccgcact	8	23	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:1270119C>T	uc002cks.2	+	35	6435	c.6187C>T	c.(6187-6189)CGG>TGG	p.R2063W	CACNA1H_uc002ckt.2_Missense_Mutation_p.R2057W|CACNA1H_uc002cku.2_Missense_Mutation_p.R758W|CACNA1H_uc010brj.2_Missense_Mutation_p.R774W|CACNA1H_uc002ckv.2_Missense_Mutation_p.R752W	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	2063	Cytoplasmic (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ACGCTCCCCACGGCCCGCCAG	0.721													T	1270119	C	T	1270119	3	4	94	1	0	0	0	0	1	0	0	0	2545	527	19	1	6321	1	CACNA1H	16	1270119	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	19636	1270119	89084634	2610	61743											
CACNA1H	8912	broad.mit.edu	37	chr16	1270496	1270496	+	Frame_Shift_Del	DEL	C	C	-													cgcagaaagaagaagatgagCcccccctgcatctcggtgga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:1270496delC	uc002cks.2	+	35	6812	c.6564delC	c.(6562-6564)AGCfs	p.S2188fs	CACNA1H_uc002ckt.2_Frame_Shift_Del_p.S2182fs|CACNA1H_uc002cku.2_Frame_Shift_Del_p.S883fs|CACNA1H_uc010brj.2_Frame_Shift_Del_p.S899fs|CACNA1H_uc002ckv.2_Frame_Shift_Del_p.S877fs	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	2188	Cytoplasmic (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AGAAGATGAGCCCCCCCTGCA	0.741													-	1270496	C	-	1270496	7	5	94	1	0	1	0	1	0	0	0	0	2545	738	26	0	6698	0	CACNA1H	16	1270496	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	377	1270496	89084257	2611	61744											
CACNA1H	8912	broad.mit.edu	37	chr16	1270845	1270845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccatagtgcccctggaaCccccagaatcagagcctccc	10	17	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:1270845C>T	uc002cks.2	+	35	7161	c.6913C>T	c.(6913-6915)CCC>TCC	p.P2305S	CACNA1H_uc002ckt.2_Missense_Mutation_p.P2299S|CACNA1H_uc002cku.2_Missense_Mutation_p.P1000S|CACNA1H_uc010brj.2_Missense_Mutation_p.P1016S|CACNA1H_uc002ckv.2_Missense_Mutation_p.P994S	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	2305	Cytoplasmic (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCCCCTGGAACCCCCAGAATC	0.632													T	1270845	C	T	1270845	3	4	94	1	0	0	0	0	1	0	0	0	2545	507	18	4	7047	4	CACNA1H	16	1270845	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	349	1270845	89083908	2612	61745											
BAIAP3	8938	broad.mit.edu	37	chr16	1391476	1391476	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accctgaaccccgtctggaaGgagcacttcctcttgtgagg	11	13	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:1391476G>T	uc002clk.1	+	8	822	c.822G>T	c.(820-822)AAG>AAT	p.K274N	BAIAP3_uc002clj.2_Missense_Mutation_p.K256N|BAIAP3_uc010uuz.1_Missense_Mutation_p.K239N|BAIAP3_uc010uva.1_Missense_Mutation_p.K211N|BAIAP3_uc010uvb.1_Missense_Mutation_p.K291N|BAIAP3_uc010uvc.1_Missense_Mutation_p.K239N	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	274	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				CCGTCTGGAAGGAGCACTTCC	0.682													T	1391476	G	T	1391476	3	4	94	1	0	0	0	0	1	0	0	0	1304	991	35	5	852	5	BAIAP3	16	1391476	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	120631	1391476	88963277	2613	61746											
CLCN7	1186	broad.mit.edu	37	chr16	1504428	1504428	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttacccaccacgcccatggcGatgaagaccgggatctcgtg	11	14	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:1504428G>A	uc002clv.2	-	13	1247	c.1137C>T	c.(1135-1137)ATC>ATT	p.I379I	CLCN7_uc002clw.2_Silent_p.I355I	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	379	Helical; (By similarity).					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)				CGCCCATGGCGATGAAGACCG	0.612													A	1504428	G	A	1504428	2	1	94	1	0	0	0	0	0	0	0	1	3468	1048	37	1		1	CLCN7	16	1504428	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	112952	1504428	88850325	2614	61747											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1793366	1793366	+	Frame_Shift_Del	DEL	C	C	-													cccacctccctgaacgtgttCcccctggctgacggcacggt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:1793365_1793365TC>T	uc010uvl.2	+	4	755	c.635_635TC>T	c.(634-636)ttcfs	p.F212fs	MAPK8IP3_uc002cmi.1_Frame_Shift_Del_p.F211fs|MAPK8IP3_uc002cmj.1_Non-coding_Transcript|MAPK8IP3_uc002cmk.3_Frame_Shift_Del_p.F211fs|MAPK8IP3_uc002cml.3_Frame_Shift_Del_p.F211fs|MAPK8IP3_uc021tah.1_Frame_Shift_Del_p.F211fs	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	211					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CTGAACGTGTTCCCCCTGGCT	0.652													-	1793366	C	-	1793366	7	5	94	1	0	1	0	1	0	0	0	0	9286	854	30	0	651	0	MAPK8IP3	16	1793366	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	288938	1793366	88561387	2615	61748											
NUBP2	10101	broad.mit.edu	37	chr16	1836922	1836922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgctggagaagccggaCgaggccgtggtgtggagagg	19	8	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:1836922C>T	uc002cmw.3	+	3	389	c.300C>T	c.(298-300)GAC>GAT	p.D100D	NUBP2_uc002cmx.3_Intron|NUBP2_uc010brx.2_Silent_p.D40D	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2 (MinD homolog, E.	100						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding				0						AGAAGCCGGACGAGGCCGTGG	0.687													T	1836922	C	T	1836922	2	4	94	1	0	0	0	0	0	0	0	1	10716	535	19	1		1	NUBP2	16	1836922	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	43556	1836922	88517831	2616	61749											
TSC2	7249	broad.mit.edu	37	chr16	2138052	2138052	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaagtctccccagacaTggagggccttgtggacacca	10	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:2138052T>C	uc002con.2	+	40	5178	c.5072T>C	c.(5071-5073)ATG>ACG	p.M1691T	TSC2_uc010bsd.2_Missense_Mutation_p.M1668T|TSC2_uc002coo.2_Missense_Mutation_p.M1624T|TSC2_uc010uvv.1_Missense_Mutation_p.M1588T|TSC2_uc010uvw.1_Missense_Mutation_p.M1576T|TSC2_uc002cop.2_Missense_Mutation_p.M1447T|TSC2_uc002coq.2_Missense_Mutation_p.M466T|TSC2_uc002cor.2_Missense_Mutation_p.M392T	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	1691	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				TCCCCAGACATGGAGGGCCTT	0.672			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				C	2138052	T	C	2138052	3	2	94	1	0	0	0	0	1	0	0	0	16603	1464	51	3	5226	3	TSC2	16	2138052	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	301130	2138052	88216701	2617	61750											
PKD1	5310	broad.mit.edu	37	chr16	2140589	2140589	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtccacacaggaagacacGagctgcggggaaggcgacac	15	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:2140589G>A	uc002cos.1	-	45	12350	c.12141C>T	c.(12139-12141)CTC>CTT	p.L4047L	PKD1_uc002cot.1_Silent_p.L4046L|MIR1225_hsa-mir-1225|MI0006311_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	4047	Helical; (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						AGGAAGACACGAGCTGCGGGG	0.667													A	2140589	G	A	2140589	2	1	94	1	0	0	0	0	0	0	0	1	11963	1045	37	1		1	PKD1	16	2140589	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2537	2140589	88214164	2618	61751											
TRAF7	84231	broad.mit.edu	37	chr16	2222338	2222338	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatctttgaggtggaccccCgagggtgccccttcaccatc	10	16	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:2222338C>T	uc002cow.2	+	8	721	c.622C>T	c.(622-624)CGA>TGA	p.R208*		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	208					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						GGTGGACCCCCGAGGGTGCCC	0.687													T	2222338	C	T	2222338	4	4	94	1	0	0	0	0	0	1	0	0	16443	644	23	1	648	1	TRAF7	16	2222338	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	81749	2222338	88132415	2619	61752											
CASKIN1	57524	broad.mit.edu	37	chr16	2229782	2229782	+	Frame_Shift_Del	DEL	G	G	-													tgggcgggggttcggcaggcGggggcggtggaggcagctcc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:2229782delG	uc010bsg.1	-	18	3619	c.3587delC	c.(3586-3588)CCGfs	p.P1196fs		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1196	Pro-rich.				signal transduction	cytoplasm				skin(2)	2						TTCGGCAGGCGGGGGCGGTGG	0.741													-	2229782	G	-	2229782	7	5	94	1	0	1	0	1	0	0	0	0	2666	1116	39	0	720	0	CASKIN1	16	2229782	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	7444	2229782	88124971	2620	61753											
CASKIN1	57524	broad.mit.edu	37	chr16	2230431	2230431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgccggcactgtgcccGgacccccagcaggccatcct	12	20	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:2230431G>A	uc010bsg.1	-	18	2970	c.2938C>T	c.(2938-2940)CGG>TGG	p.R980W		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	980	Pro-rich.				signal transduction	cytoplasm				skin(2)	2						CACTGTGCCCGGACCCCCAGC	0.711													A	2230431	G	A	2230431	3	1	94	1	0	0	0	0	1	0	0	0	2666	1115	39	1	1369	1	CASKIN1	16	2230431	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	649	2230431	88124322	2621	61754											
E4F1	1877	broad.mit.edu	37	chr16	2273712	2273712	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagggtgcagttgcggcggTggcggcggccttggccccca	19	13	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:2273712T>C	uc002cpm.2	+	1	146	c.98T>C	c.(97-99)GTG>GCG	p.V33A	E4F1_uc010bsi.2_Missense_Mutation_p.V33A|E4F1_uc010bsj.2_Missense_Mutation_p.V33A	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	p120E4F	33					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GTTGCGGCGGTGGCGGCGGCC	0.756													C	2273712	T	C	2273712	3	2	94	1	0	0	0	0	1	0	0	0	4874	1696	59	3	100	3	E4F1	16	2273712	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	43281	2273712	88081041	2622	61755											
ABCA3	21	broad.mit.edu	37	chr16	2376256	2376256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggaagagttccaggaccGtcaccaggaccttccgcttc	11	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:2376256G>A	uc002cpy.1	-	5	786	c.74C>T	c.(73-75)ACG>ATG	p.T25M	ABCA3_uc010bsk.1_Missense_Mutation_p.T25M|ABCA3_uc010bsl.1_Missense_Mutation_p.T25M|ABCA3_uc002cpz.1_Missense_Mutation_p.T25M	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	25	Helical; (Potential).				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				TTCCAGGACCGTCACCAGGAC	0.562													A	2376256	G	A	2376256	3	1	94	1	0	0	0	0	1	0	0	0	33	1145	40	1	5156	1	ABCA3	16	2376256	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	102544	2376256	87978497	2623	61756											
FLYWCH1	84256	broad.mit.edu	37	chr16	2987385	2987385	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcgcagtgggacagcccaGgtgcgtgtggagggtgctgg	21	8	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:2987385G>T	uc002csd.2	+	7	2140	c.1777G>T	c.(1777-1779)GAT>TAT	p.D593Y	FLYWCH1_uc002csb.2_Missense_Mutation_p.D592Y|FLYWCH1_uc002csc.2_Missense_Mutation_p.D592Y|FLYWCH1_uc010bsv.2_Missense_Mutation_p.D317Y|FLYWCH1_uc002cse.2_Missense_Mutation_p.D48Y	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1 isoform a	593						nucleus	DNA binding|metal ion binding				0						GGACAGCCCAGGTGCGTGTGG	0.697													T	2987385	G	T	2987385	3	4	94	1	0	0	0	0	1	0	0	0	5947	1014	35	5	1792	5	FLYWCH1	16	2987385	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	611129	2987385	87367368	2624	61757											
CLDN9	9080	broad.mit.edu	37	chr16	3063895	3063895	+	Frame_Shift_Del	DEL	G	G	-													ctgcactgcttatgctgggcGgggggctcctctgctgcacg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:3063895delG	uc010uwo.1	+	1	1439	c.532delG	c.(532-534)GGGfs	p.G178fs		NM_020982	NP_066192	O95484	CLD9_HUMAN	claudin 9	178	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						TATGCTGGGCGGGGGGCTCCT	0.721													-	3063895	G	-	3063895	7	5	94	1	0	1	0	1	0	0	0	0	3492	1116	39	0	534	0	CLDN9	16	3063895	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	76510	3063895	87290858	2625	61758											
HCFC1R1	54985	broad.mit.edu	37	chr16	3073914	3073914	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctgggcccctccctgggggCctcgctgcaagggctgctgc	16	16	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:3073914C>G	uc002csx.1	-	2	162	c.29G>C	c.(28-30)GGC>GCC	p.G10A	HCFC1R1_uc002csy.1_Missense_Mutation_p.G10A|HCFC1R1_uc002csz.1_Missense_Mutation_p.G10A|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002ctc.2_5'Flank|THOC6_uc002cta.2_5'Flank	NM_001002018	NP_001002018	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependant)	10						cytoplasm|nucleus					0						TCCCTGGGGGCCTCGCTGCAA	0.701													G	3073914	C	G	3073914	3	3	94	1	0	0	0	0	1	0	0	0	6992	739	26	5	403	5	HCFC1R1	16	3073914	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	10019	3073914	87280839	2626	61759											
ZNF205	7755	broad.mit.edu	37	chr16	3168973	3168973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaggcctcgggctccagCcggcaggcaggagatgagaa	18	10	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:3168973C>T	uc002cub.2	+	6	687	c.552C>T	c.(550-552)AGC>AGT	p.S184S	ZNF205_uc002cua.2_Silent_p.S184S	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	184	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						CGGGCTCCAGCCGGCAGGCAG	0.667													T	3168973	C	T	3168973	2	4	94	1	0	0	0	0	0	0	0	1	17761	738	26	2		2	ZNF205	16	3168973	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	95059	3168973	87185780	2627	61760											
MEFV	4210	broad.mit.edu	37	chr16	3304265	3304265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccgagtccagattcgcaGctgtcttttcctctagagtc	9	12	2	2	rs104895123		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:3304265G>A	uc002cun.1	-	2	843	c.803C>T	c.(802-804)GCT>GTT	p.A268V		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	268					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	CAGATTCGCAGCTGTCTTTTC	0.562													A	3304265	G	A	3304265	3	1	94	1	0	0	0	0	1	0	0	0	9459	971	34	2	1578	2	MEFV	16	3304265	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	135292	3304265	87050488	2628	61761											
ZNF263	10127	broad.mit.edu	37	chr16	3340259	3340259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacttgtgggaaaagcttcCggcagggcatgcacctcacc	12	12	1	1	rs138118006		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:3340259C>T	uc002cuq.2	+	6	2085	c.1753C>T	c.(1753-1755)CGG>TGG	p.R585W	ZNF263_uc010uww.1_Missense_Mutation_p.R233W|ZNF263_uc002cur.2_Missense_Mutation_p.R233W	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	585	C2H2-type 6.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(3)|ovary(1)	4						GAAAAGCTTCCGGCAGGGCAT	0.473													T	3340259	C	T	3340259	3	4	94	1	0	0	0	0	1	0	0	0	17800	643	23	1	1775	1	ZNF263	16	3340259	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	35994	3340259	87014494	2629	61762											
TIGD7	91151	broad.mit.edu	37	chr16	3350472	3350473	+	Frame_Shift_Ins	INS	-	-	T													gtccagaattaacttcttatINStttttttaatgtcataaaat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:3350471_3350472A>AT	uc021tcc.1	-	0	143_144	c.143_144T>AT	c.(142-144)aatfs	p.N48fs	ZNF263_uc002cur.2_3'UTR|TIGD7_uc002cus.3_Frame_Shift_Ins_p.N48fs	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	Homo sapiens tigger transposable element derived 7 (TIGD7), mRNA.	48	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TTAACTTCTTATTTTTTTTAAT	0.361													T	3350473	-	T	3350472	7	5	94	1	0	1	1	0	0	0	0	0	15898	1493	52	0	1510	0	TIGD7	16	3350472	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	10213	3350472	87004281	2630	61763											
C16orf90	646174	broad.mit.edu	37	chr16	3543946	3543946	+	Frame_Shift_Del	DEL	G	G	-													gagcctagaaggactaggctGggggagggcacccttgtctg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:3543946delG	uc002cvi.2	-	3	442	c.442delC	c.(442-444)CAGfs	p.Q148fs		NM_001080524	NP_001073993	A8MZG2	CP090_HUMAN	hypothetical protein LOC646174	138											0						GGACTAGGCTGGGGGAGGGCA	0.627													-	3543946	G	-	3543946	7	5	94	1	0	1	0	1	0	0	0	0	1843	1357	47	0	110	0	C16orf90	16	3543946	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	193474	3543946	86810807	2631	61764											
BTBD12	84464	broad.mit.edu	37	chr16	3639367	3639367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatgtgccagcagcagtcGtcaattggaattggggggtc	14	9	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:3639367G>A	uc002cvp.2	-	12	4899	c.4272C>T	c.(4270-4272)GAC>GAT	p.D1424D		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1424	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						AGCAGCAGTCGTCAATTGGAA	0.627								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				A	3639367	G	A	3639367	2	1	94	1	0	0	0	0	0	0	0	1	1540	1136	40	1		1	BTBD12	16	3639367	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	95421	3639367	86715386	2632	61765											
BTBD12	84464	broad.mit.edu	37	chr16	3644517	3644517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcgtaaagcacctccccGctgtccgtctgaaactggac	11	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:3644517G>A	uc002cvp.2	-	10	2724	c.2097C>T	c.(2095-2097)AGC>AGT	p.S699S		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	699	BTB.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						GCACCTCCCCGCTGTCCGTCT	0.537								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				A	3644517	G	A	3644517	2	1	94	1	0	0	0	0	0	0	0	1	1540	1078	38	1		1	BTBD12	16	3644517	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	5150	3644517	86710236	2633	61766											
BTBD12	84464	broad.mit.edu	37	chr16	3647811	3647811	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaaacctgcttctggtctTatcctctcagaaaaggcact	6	13	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:3647811T>C	uc002cvp.2	-	6	1980	c.1353A>G	c.(1351-1353)ATA>ATG	p.I451M		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	451	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						CTTCTGGTCTTATCCTCTCAG	0.607								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				C	3647811	T	C	3647811	3	2	94	1	0	0	0	0	1	0	0	0	1540	1744	61	3	4191	3	BTBD12	16	3647811	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	3294	3647811	86706942	2634	61767											
CREBBP	1387	broad.mit.edu	37	chr16	3778834	3778834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggcgacttcagggtccGcagcaggtcttgcagagcgc	16	12	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:3778834G>A	uc002cvv.2	-	31	6418	c.6214C>T	c.(6214-6216)CGG>TGG	p.R2072W	CREBBP_uc002cvw.2_Missense_Mutation_p.R2034W	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2072					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTCAGGGTCCGCAGCAGGTCT	0.617			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				A	3778834	G	A	3778834	3	1	94	1	0	0	0	0	1	0	0	0	3861	1086	38	1	1118	1	CREBBP	16	3778834	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	131023	3778834	86575919	2635	61768											
CREBBP	1387	broad.mit.edu	37	chr16	3781863	3781863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcttcttcttgttggcgcGgctgatgctgcttttgttct	13	9	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:3781863G>A	uc002cvv.2	-	29	5008	c.4804C>T	c.(4804-4806)CGC>TGC	p.R1602C	CREBBP_uc002cvw.2_Missense_Mutation_p.R1564C	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1602	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ttgttggcgcggctgatgctg	0.358			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				A	3781863	G	A	3781863	3	1	94	1	0	0	0	0	1	0	0	0	3861	1116	39	1	2536	1	CREBBP	16	3781863	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3029	3781863	86572890	2636	61769											
ADCY9	115	broad.mit.edu	37	chr16	4029167	4029167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggagtagacggccagtgCgggaagcgacaccaggatgg	18	8	0	1	rs144986362		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:4029167C>T	uc002cvx.2	-	8	3168	c.2629G>A	c.(2629-2631)GCA>ACA	p.A877T		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	877	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						ACGGCCAGTGCGGGAAGCGAC	0.582													T	4029167	C	T	4029167	3	4	94	1	0	0	0	0	1	0	0	0	301	768	27	1	1448	1	ADCY9	16	4029167	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	247304	4029167	86325586	2637	61770											
ADCY9	115	broad.mit.edu	37	chr16	4165092	4165092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgatgtagaagagcgcatAccggaaccggcgctgggtct	15	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:4165092A>G	uc002cvx.2	-	2	891	c.352T>C	c.(352-354)TAT>CAT	p.Y118H		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	118	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						AAGAGCGCATACCGGAACCGG	0.637													G	4165092	A	G	4165092	3	3	94	1	0	0	0	0	1	0	0	0	301	391	14	3	3749	3	ADCY9	16	4165092	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	135925	4165092	86189661	2638	61771											
VASN	114990	broad.mit.edu	37	chr16	4432529	4432529	+	Frame_Shift_Del	DEL	G	G	-													cggagggcgaggaggcctgcGgggaggcccatacaccccca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:4432529delG	uc002cwj.1	+	2	1806	c.1651delG	c.(1651-1653)GGGfs	p.G551fs	CORO7_uc002cwe.2_Intron|CORO7_uc002cwf.2_Intron|CORO7_uc002cwg.3_Intron|CORO7_uc002cwh.3_Intron|CORO7_uc010uxh.1_Intron|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_Intron|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_Intron	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN	slit-like 2 precursor	551	Fibronectin type-III.|Extracellular (Potential).					extracellular region|integral to membrane					0						GGAGGCCTGCGGGGAGGCCCA	0.721													-	4432529	G	-	4432529	7	5	94	1	0	1	0	1	0	0	0	0	17124	1116	39	0	1653	0	VASN	16	4432529	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	267437	4432529	85922224	2639	61772											
NMRAL1	57407	broad.mit.edu	37	chr16	4516334	4516334	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgccgtcagcttcttgaTgttctccaggccgctgtaga	10	14	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:4516334T>C	uc002cwm.2	-	4	505	c.349A>G	c.(349-351)ATC>GTC	p.I117V	NMRAL1_uc002cwn.2_Missense_Mutation_p.I117V|NMRAL1_uc002cwo.2_Missense_Mutation_p.I117V|NMRAL1_uc002cwp.2_Missense_Mutation_p.I153V	NM_020677	NP_065728	Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	117						nucleus|perinuclear region of cytoplasm	binding			kidney(1)	1						AGCTTCTTGATGTTCTCCAGG	0.607													C	4516334	T	C	4516334	3	2	94	1	0	0	0	0	1	0	0	0	10501	1464	51	3	562	3	NMRAL1	16	4516334	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	83805	4516334	85838419	2640	61773											
ANKS3	124401	broad.mit.edu	37	chr16	4747357	4747358	+	Frame_Shift_Ins	INS	-	-	G													ctcacggacacggtcctccaINSgggctcccgagagctcgggg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:4747357_4747358insG	uc002cxj.1	-	16	2165_2166	c.1870_1871insC	c.(1870-1872)CTGfs	p.L624fs	ANKS3_uc010uxr.1_Frame_Shift_Ins_p.L147fs|ANKS3_uc002cxh.1_RNA|ANKS3_uc002cxi.1_Frame_Shift_Ins_p.L551fs|ANKS3_uc002cxk.2_Frame_Shift_Ins_p.L495fs|ANKS3_uc002cxl.2_Frame_Shift_Ins_p.L451fs|ANKS3_uc010uxs.1_Frame_Shift_Ins_p.L551fs	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain	624											0						ACGGTCCTCCAGGGCTCCCGAG	0.644													G	4747358	-	G	4747357	7	5	94	1	0	1	1	0	0	0	0	0	690	188	7	0	107	0	ANKS3	16	4747357	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	231023	4747357	85607396	2641	61774	293	2									
ANKS3	124401	broad.mit.edu	37	chr16	4747358	4747359	+	Frame_Shift_Ins	INS	-	-	G													tcacggacacggtcctccagINSggctcccgagagctcgggga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:4747357_4747358A>AG	uc002cxj.2	-	15	2165_2166	c.1870_1871T>CT	c.(1870-1872)ctgfs	p.L624fs	ANKS3_uc010uxr.2_Frame_Shift_Ins_p.L147fs|ANKS3_uc002cxh.2_Non-coding_Transcript|ANKS3_uc002cxi.2_Frame_Shift_Ins_p.L551fs|ANKS3_uc021tcj.1_Frame_Shift_Ins_p.L495fs|ANKS3_uc021tck.1_Frame_Shift_Ins_p.L517fs|ANKS3_uc002cxk.3_Frame_Shift_Ins_p.L495fs|ANKS3_uc010uxs.2_Frame_Shift_Ins_p.L551fs	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA.	624										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						ACGGTCCTCCAGGGCTCCCGAG	0.644													G	4747359	-	G	4747358	7	5	94	1	0	1	1	0	0	0	0	0	690	991	35	0	108	0	ANKS3	16	4747358	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	4747358	85607395	2642	61775	293	2									
NAGPA	51172	broad.mit.edu	37	chr16	5075682	5075682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtgagggctagccaggCggtcctgcagacaggagaga	18	9	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:5075682C>T	uc002cyg.2	-	10	1366	c.1345G>A	c.(1345-1347)GCC>ACC	p.A449T	NAGPA_uc010buc.2_Missense_Mutation_p.A146T|NAGPA_uc002cyf.2_Missense_Mutation_p.A167T|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_Intron	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester	449	Helical; (Potential).				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity				0					N-Acetyl-D-glucosamine(DB00141)	GCTAGCCAGGCGGTCCTGCAG	0.642													T	5075682	C	T	5075682	3	4	94	1	0	0	0	0	1	0	0	0	10144	768	27	1	206	1	NAGPA	16	5075682	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	328324	5075682	85279071	2643	61776											
A2BP1	54715	broad.mit.edu	37	chr16	7568298	7568298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggccagaccacggttccCgagcacacattaaacctgta	8	14	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:7568298C>T	uc002cys.2	+	5	1165	c.177C>T	c.(175-177)CCC>CCT	p.P59P	A2BP1_uc010buf.1_Silent_p.P59P|A2BP1_uc002cyr.1_Silent_p.P59P|A2BP1_uc002cyt.2_Silent_p.P59P|A2BP1_uc010uxz.1_Silent_p.P102P|A2BP1_uc010uya.1_Silent_p.P95P|A2BP1_uc002cyv.1_Silent_p.P59P|A2BP1_uc010uyb.1_Silent_p.P59P|A2BP1_uc002cyw.2_Silent_p.P79P|A2BP1_uc002cyy.2_Silent_p.P79P|A2BP1_uc002cyx.2_Silent_p.P79P|A2BP1_uc010uyc.1_Silent_p.P79P	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	59					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		CCACGGTTCCCGAGCACACAT	0.657													T	7568298	C	T	7568298	2	4	94	1	0	0	0	0	0	0	0	1	3	639	23	1		1	A2BP1	16	7568298	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2492616	7568298	82786455	2644	61777											
TEKT5	146279	broad.mit.edu	37	chr16	10729710	10729710	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccttcagcgggccctcCttggccatgatggacctttc	10	16	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:10729710C>T	uc002czz.1	-	6	1224	c.1152G>A	c.(1150-1152)AAG>AAA	p.K384K		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	tektin 5	384	Potential.				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2						GCGGGCCCTCCTTGGCCATGA	0.622													T	10729710	C	T	10729710	2	4	94	1	0	0	0	0	0	0	0	1	15753	680	24	4		4	TEKT5	16	10729710	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3161412	10729710	79625043	2645	61778											
ZC3H7A	29066	broad.mit.edu	37	chr16	11859392	11859392	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgctcctggagaagtttgaAcacagtaaggttaatctttc	9	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:11859392A>G	uc002dbk.2	-	13	1870	c.1672T>C	c.(1672-1674)TTC>CTC	p.F558L	ZC3H7A_uc002dbj.2_RNA|ZC3H7A_uc002dbl.2_Missense_Mutation_p.F558L|ZC3H7A_uc002dbm.1_Missense_Mutation_p.F468L	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	558						nucleus	nucleic acid binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						AGAAGTTTGAACACAGTAAGG	0.438													G	11859392	A	G	11859392	3	3	94	1	0	0	0	0	1	0	0	0	17569	43	2	3	1283	3	ZC3H7A	16	11859392	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1129682	11859392	78495361	2646	61779											
NPIP	9284	broad.mit.edu	37	chr16	15026588	15026588	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaagatccgagtgtggcaCgacaacaaaggtctgtatgg	14	7	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:15026588C>T	uc002dcx.3	+	7		c.1236C>T						Q9UND3	NPIP_HUMAN	Homo sapiens neuroblastoma cDNA, clone:Nbla00537, full insert sequence.						mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore					0						GAGTGTGGCACGACAACAAAG	0.642													T	15026588	C	T	15026588	1	4	94	0	1	0	0	0	0	0	0	0	10584	551	19	1		1	NPIP	16	15026588	RNA	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3167196	15026588	75328165	2647	61780											
PDXDC1	23042	broad.mit.edu	37	chr16	15091639	15091639	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccacgttagctgaaatgggAaaaaacttgaaggaggcagt	12	7	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:15091639A>G	uc002dda.3	+	2	275	c.51A>G	c.(49-51)GGA>GGG	p.G17G	PDXDC1_uc010uzl.1_Silent_p.G2G|PDXDC1_uc010uzm.1_Silent_p.G2G|PDXDC1_uc010bvc.1_5'UTR|PDXDC1_uc002dcz.2_Silent_p.G17G|PDXDC1_uc002ddb.3_Silent_p.G17G|PDXDC1_uc010uzn.1_Silent_p.G17G|PDXDC1_uc002ddc.2_Silent_p.G17G	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain	17					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	CTGAAATGGGAAAAAACTTGA	0.433													G	15091639	A	G	15091639	2	3	94	1	0	0	0	0	0	0	0	1	11696	233	9	3		3	PDXDC1	16	15091639	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	65051	15091639	75263114	2648	61781											
NDE1	54820	broad.mit.edu	37	chr16	15785104	15785104	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacagctgtgcaggccacGggctccgtgccgtccacgcc	13	17	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:15785104G>A	uc002ddt.1	+	5	670	c.627G>A	c.(625-627)ACG>ACA	p.T209T	NDE1_uc010uzy.1_Silent_p.T209T|NDE1_uc002dds.2_Silent_p.T209T|NDE1_uc002ddu.1_Silent_p.T146T	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	nuclear distribution gene E homolog 1	209	Interaction with CENPF (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			ovary(1)	1						TGCAGGCCACGGGCTCCGTGC	0.612													A	15785104	G	A	15785104	2	1	94	1	0	0	0	0	0	0	0	1	10243	1103	39	1		1	NDE1	16	15785104	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	693465	15785104	74569649	2649	61782											
MYH11	4629	broad.mit.edu	37	chr16	15797970	15797970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaaggaacgaaagaggtctCgtttcctcgcctgtgggttg	14	8	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:15797970C>T	uc002ddy.2	-	41	5904	c.5797G>A	c.(5797-5799)GAG>AAG	p.E1933K	MYH11_uc002ddv.2_3'UTR|MYH11_uc002ddw.2_3'UTR|MYH11_uc002ddx.2_Missense_Mutation_p.E1940K|MYH11_uc010bvg.2_3'UTR|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1933	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						AAAGAGGTCTCGTTTCCTCGC	0.393			T	CBFB	AML								T	15797970	C	T	15797970	3	4	94	1	0	0	0	0	1	0	0	0	10031	893	31	1	125	1	MYH11	16	15797970	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	12866	15797970	74556783	2650	61783											
MYH11	4629	broad.mit.edu	37	chr16	15818179	15818179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtactgctgggtgaggttctCgatctccttctggaacctct	11	11	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:15818179C>T	uc002ddy.2	-	31	4311	c.4204G>A	c.(4204-4206)GAG>AAG	p.E1402K	MYH11_uc002ddv.2_Missense_Mutation_p.E1409K|MYH11_uc002ddw.2_Missense_Mutation_p.E1402K|MYH11_uc002ddx.2_Missense_Mutation_p.E1409K|MYH11_uc010bvg.2_Missense_Mutation_p.E1234K|NDE1_uc010uzy.1_3'UTR|NDE1_uc002dds.2_3'UTR|MYH11_uc010bvh.2_Missense_Mutation_p.E108K|NDE1_uc002ddz.1_RNA	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1402	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						GTGAGGTTCTCGATCTCCTTC	0.542			T	CBFB	AML								T	15818179	C	T	15818179	3	4	94	1	0	0	0	0	1	0	0	0	10031	893	31	1	1793	1	MYH11	16	15818179	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	20209	15818179	74536574	2651	61784											
COQ7	10229	broad.mit.edu	37	chr16	19087090	19087090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtgccatggcctgcaccGtggcggtggaagagagcata	16	9	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:19087090G>A	uc002dfr.2	+	4	475	c.415G>A	c.(415-417)GTG>ATG	p.V139M	COQ7_uc002dfs.2_Missense_Mutation_p.V125M	NM_016138	NP_057222	Q99807	COQ7_HUMAN	COQ7 protein	139	2.|2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			skin(1)	1						GGCCTGCACCGTGGCGGTGGA	0.517													A	19087090	G	A	19087090	3	1	94	1	0	0	0	0	1	0	0	0	3750	1145	40	1	429	1	COQ7	16	19087090	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3268911	19087090	71267663	2652	61785											
TMC5	79838	broad.mit.edu	37	chr16	19452015	19452016	+	Frame_Shift_Ins	INS	-	-	T													tcaacctaactctccaccctINStttttggggagccagactat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:19452014_19452015C>CT	uc002dgc.4	+	2	1403_1404	c.654_655C>CT	c.(652-657)ccctttfs	p.P218fs	TMC5_uc010vaq.2_Frame_Shift_Ins_p.P218fs|TMC5_uc002dgb.4_Frame_Shift_Ins_p.P218fs|TMC5_uc010var.2_Frame_Shift_Ins_p.P218fs	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	218						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACTCTCCACCCTTTTTTGGGGA	0.446													T	19452016	-	T	19452015	7	5	94	1	0	1	1	0	0	0	0	0	15985	1609	56	0	657	0	TMC5	16	19452015	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	364925	19452015	70902738	2653	61786											
ACSM2B	348158	broad.mit.edu	37	chr16	20548678	20548678	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgggcaggttcaagacaaActctatctgttgaaaaacaa	8	8	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:20548678A>G	uc002dhj.3	-	15	1846	c.1636T>C	c.(1636-1638)TTT>CTT	p.F546L	ACSM2B_uc002dhk.3_Missense_Mutation_p.F546L	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	546					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5						TTCAAGACAAACTCTATCTGT	0.483													G	20548678	A	G	20548678	3	3	94	1	0	0	0	0	1	0	0	0	184	43	2	3	101	3	ACSM2B	16	20548678	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1096663	20548678	69806075	2654	61787											
DNAH3	55567	broad.mit.edu	37	chr16	21145631	21145631	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatggggttcaccgtgtgcAgatgctcctcgttccacttc	10	13	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:21145631A>G	uc010vbe.1	-	7	1031	c.1031T>C	c.(1030-1032)CTG>CCG	p.L344P	DNAH3_uc002die.2_Missense_Mutation_p.L315P	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	344	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CACCGTGTGCAGATGCTCCTC	0.522													G	21145631	A	G	21145631	3	3	94	1	0	0	0	0	1	0	0	0	4603	188	7	3	11542	3	DNAH3	16	21145631	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	596953	21145631	69209122	2655	61788											
ZP2	7783	broad.mit.edu	37	chr16	21220960	21220960	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgacttaccactctccTggtacagttatcataggtag	8	10	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:21220960T>C	uc002dii.2	-	4	322	c.322A>G	c.(322-324)AGG>GGG	p.R108G	ZP2_uc010bwn.1_Missense_Mutation_p.R147G|ZP2_uc010bwo.2_Missense_Mutation_p.R147G	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	108	Extracellular (Potential).				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(48;0.0573)		ACCACTCTCCTGGTACAGTTA	0.478													C	21220960	T	C	21220960	3	2	94	1	0	0	0	0	1	0	0	0	18213	1579	55	3	1979	3	ZP2	16	21220960	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	75329	21220960	69133793	2656	61789											
OTOA	146183	broad.mit.edu	37	chr16	21690264	21690264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattgttgcaaaacatggcGgtgagtattctattttctgt	9	7	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:21690264G>A	uc002djh.2	+	2	121	c.120G>A	c.(118-120)GCG>GCA	p.A40A	uc002diq.3_Intron	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	40					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		AAAACATGGCGGTGAGTATTC	0.348													A	21690264	G	A	21690264	2	1	94	1	0	0	0	0	0	0	0	1	11302	1130	39	1		1	OTOA	16	21690264	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	469304	21690264	68664489	2657	61790											
HS3ST2	9956	broad.mit.edu	37	chr16	22926718	22926718	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaccaaaggattcccttgCttgaaaaaaacagaatcgag	8	8	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:22926718C>T	uc002dli.2	+	2	1011	c.939C>T	c.(937-939)TGC>TGT	p.C313C	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	313	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		GATTCCCTTGCTTGAAAAAAA	0.498													T	22926718	C	T	22926718	2	4	94	1	0	0	0	0	0	0	0	1	7364	805	28	2		2	HS3ST2	16	22926718	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1236454	22926718	67428035	2658	61791											
CACNG3	10368	broad.mit.edu	37	chr16	24372935	24372935	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaggtatcgattccggagGcggtcaagttctcgctccac	11	12	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:24372935G>A	uc002dmf.2	+	4	1899	c.699G>A	c.(697-699)AGG>AGA	p.R233R		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	233					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0				GBM - Glioblastoma multiforme(48;0.0809)		GATTCCGGAGGCGGTCAAGTT	0.537													A	24372935	G	A	24372935	2	1	94	1	0	0	0	0	0	0	0	1	2558	1194	42	2		2	CACNG3	16	24372935	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1446217	24372935	65981818	2659	61792											
AQP8	343	broad.mit.edu	37	chr16	25228661	25228661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctctcttcatcttcatcgGgtgcctgtcggtcattgaga	10	11	5	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:25228661G>A	uc002doc.2	+	2	237	c.155G>A	c.(154-156)GGG>GAG	p.G52E		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8	52	Helical; (Potential).				cellular response to cAMP	integral to plasma membrane	water channel activity			upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(48;0.044)		ATCTTCATCGGGTGCCTGTCG	0.632													A	25228661	G	A	25228661	3	1	94	1	0	0	0	0	1	0	0	0	832	1232	43	4	161	4	AQP8	16	25228661	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	855726	25228661	65126092	2660	61793											
JMJD5	79831	broad.mit.edu	37	chr16	27221729	27221729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagactggcgccgggtctaCgccatcggctgcctcctgaa	12	14	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:27221729C>T	uc002doh.2	+	2	467	c.285C>T	c.(283-285)TAC>TAT	p.Y95Y	JMJD5_uc010bxv.2_Intron|JMJD5_uc010vcn.1_Silent_p.Y133Y|JMJD5_uc010bxw.2_Silent_p.Y95Y	NM_024773	NP_079049	Q8N371	KDM8_HUMAN	jumonji domain containing 5 isoform 2	95					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(2)|upper_aerodigestive_tract(1)	3						GCCGGGTCTACGCCATCGGCT	0.622													T	27221729	C	T	27221729	2	4	94	1	0	0	0	0	0	0	0	1	7952	547	19	1		1	JMJD5	16	27221729	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1993068	27221729	63133024	2661	61794											
GTF3C1	2975	broad.mit.edu	37	chr16	27475972	27475972	+	Frame_Shift_Del	DEL	G	G	-													gaaggaggtgcctgcccctcGggggggctgtcctcactgga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:27475971_27475971CG>C	uc002dov.2	-	33	5582	c.5542_5542CG>G	c.(5542-5544)gagfs	p.E1848fs	GTF3C1_uc002dou.3_Frame_Shift_Del_p.E1848fs	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1848						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCCTGCCCCTCGGGGGGGCTG	0.677													-	27475972	G	-	27475972	7	5	94	1	0	1	0	1	0	0	0	0	6872	1103	39	0	804	0	GTF3C1	16	27475972	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	254243	27475972	62878781	2662	61795											
GTF3C1	2975	broad.mit.edu	37	chr16	27519890	27519890	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgaatctttgaagaagtcGgcacagcattcttgcttcta	8	8	3	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:27519890G>A	uc002dov.1	-	8	1253	c.1213C>T	c.(1213-1215)CGA>TGA	p.R405*	GTF3C1_uc002dou.2_Nonsense_Mutation_p.R405*	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	405						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						TGAAGAAGTCGGCACAGCATT	0.453													A	27519890	G	A	27519890	4	1	94	1	0	0	0	0	0	1	0	0	6872	1124	39	1	5236	1	GTF3C1	16	27519890	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	43918	27519890	62834863	2663	61796											
SBK1	388228	broad.mit.edu	37	chr16	28331528	28331528	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgttcgaccgcgagtgCcgccgcgtaaagctggccga	14	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:28331528C>T	uc002dpd.2	+	4	1350	c.561C>T	c.(559-561)TGC>TGT	p.C187C		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	SH3-binding kinase 1	187	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|kidney(1)	2						ACCGCGAGTGCCGCCGCGTAA	0.692													T	28331528	C	T	28331528	2	4	94	1	0	0	0	0	0	0	0	1	13860	747	26	2		2	SBK1	16	28331528	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	811638	28331528	62023225	2664	61797											
SBK1	388228	broad.mit.edu	37	chr16	28331667	28331667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggcggtggacacgggcGtggacgtgtgggccttcggc	21	10	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:28331667G>A	uc002dpd.2	+	4	1489	c.700G>A	c.(700-702)GTG>ATG	p.V234M		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	SH3-binding kinase 1	234	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|kidney(1)	2						GGACACGGGCGTGGACGTGTG	0.716													A	28331667	G	A	28331667	3	1	94	1	0	0	0	0	1	0	0	0	13860	1145	40	1	710	1	SBK1	16	28331667	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	139	28331667	62023086	2665	61798											
APOB48R	55911	broad.mit.edu	37	chr16	28508861	28508861	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcttttgagtccagggaGggaggaccttggggagggcg	21	6	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:28508861G>A	uc002dqb.1	+	3	2482	c.2472G>A	c.(2470-2472)GAG>GAA	p.E824E	uc010vct.1_Intron|APOB48R_uc010byg.1_Silent_p.E362E	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	824	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0						AGTCCAGGGAGGGAGGACCTT	0.637													A	28508861	G	A	28508861	2	1	94	1	0	0	0	0	0	0	0	1	786	991	35	4		4	APOB48R	16	28508861	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	177194	28508861	61845892	2666	61799											
SULT1A1	6817	broad.mit.edu	37	chr16	28618377	28618377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaactgccacatcctttgCgttgcgggcaacatagacca	10	12	0	1	rs138013613		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:28618377C>T	uc002dqi.2	-	4	867	c.394G>A	c.(394-396)GCA>ACA	p.A132T	uc010vct.1_Intron|SULT1A1_uc002dqj.2_Missense_Mutation_p.A132T|SULT1A1_uc002dqk.2_Missense_Mutation_p.A132T|SULT1A1_uc002dql.2_Missense_Mutation_p.A132T|SULT1A1_uc002dqm.2_Missense_Mutation_p.A54T|SULT1A1_uc002dqn.2_Missense_Mutation_p.A223T|SULT1A1_uc002dqo.2_Missense_Mutation_p.A132T|SULT1A1_uc002dqp.2_Missense_Mutation_p.A132T	NM_177534	NP_803878	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A,	132	PAPS.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						ACATCCTTTGCGTTGCGGGCA	0.567													T	28618377	C	T	28618377	3	4	94	1	0	0	0	0	1	0	0	0	15371	768	27	1	509	1	SULT1A1	16	28618377	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	109516	28618377	61736376	2667	61800											
SULT1A1	6817	broad.mit.edu	37	chr16	28619676	28619676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaggtgtgtcttcaggagtCgtggggccggtgtgtctttc	17	8	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:28619676C>T	uc002dqi.2	-	3	781	c.308G>A	c.(307-309)CGA>CAA	p.R103Q	uc010vct.1_Intron|SULT1A1_uc002dqj.2_Missense_Mutation_p.R103Q|SULT1A1_uc002dqk.2_Missense_Mutation_p.R103Q|SULT1A1_uc002dql.2_Missense_Mutation_p.R103Q|SULT1A1_uc002dqm.2_Intron|SULT1A1_uc002dqn.2_Missense_Mutation_p.R194Q|SULT1A1_uc002dqo.2_Missense_Mutation_p.R103Q|SULT1A1_uc002dqp.2_Missense_Mutation_p.R103Q	NM_177534	NP_803878	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A,	103					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						CTTCAGGAGTCGTGGGGCCGG	0.507													T	28619676	C	T	28619676	3	4	94	1	0	0	0	0	1	0	0	0	15371	884	31	1	599	1	SULT1A1	16	28619676	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1299	28619676	61735077	2668	61801											
ATXN2L	11273	broad.mit.edu	37	chr16	28838262	28838262	+	Frame_Shift_Del	DEL	G	G	-													aaggtgcttcagcgctgggaGgggggtgacagcaacagcga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:28838261_28838261AG>A	uc002dqy.3	+	5	862	c.695_695AG>A	c.(694-696)gagfs	p.E232fs	NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Frame_Shift_Del_p.E232fs|ATXN2L_uc002dqz.3_Frame_Shift_Del_p.E232fs|ATXN2L_uc002dra.3_Frame_Shift_Del_p.E232fs|ATXN2L_uc002drb.3_Frame_Shift_Del_p.E232fs|ATXN2L_uc002drc.3_Frame_Shift_Del_p.E232fs|ATXN2L_uc010vdb.2_Frame_Shift_Del_p.E232fs|ATXN2L_uc002dre.3_Frame_Shift_Del_p.E232fs|ATXN2L_uc002drf.3_Intron	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	232						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CAGCGCTGGGAGGGGGGTGAC	0.532													-	28838262	G	-	28838262	7	5	94	1	0	1	0	1	0	0	0	0	1212	991	35	0	718	0	ATXN2L	16	28838262	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	218586	28838262	61516491	2669	61802											
ATP2A1	487	broad.mit.edu	37	chr16	28912049	28912049	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccattgccatctgccggCgaattggcatctttggggag	13	11	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:28912049C>T	uc002dro.1	+	15	2096	c.1912C>T	c.(1912-1914)CGA>TGA	p.R638*	uc010vct.1_Intron|ATP2A1_uc002drn.1_Nonsense_Mutation_p.R638*|ATP2A1_uc002drp.1_Nonsense_Mutation_p.R513*	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	638	Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CATCTGCCGGCGAATTGGCAT	0.642													T	28912049	C	T	28912049	4	4	94	1	0	0	0	0	0	1	0	0	1136	760	27	1	1970	1	ATP2A1	16	28912049	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	73787	28912049	61442704	2670	61803											
LAT	27040	broad.mit.edu	37	chr16	28997880	28997880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaacagtgtggcgagctaCgagaacgagggtgcgtctgg	17	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:28997880C>T	uc002dsd.2	+	6	682	c.330C>T	c.(328-330)TAC>TAT	p.Y110Y	uc010vct.1_Intron|LAT_uc010vdj.1_Silent_p.Y146Y|LAT_uc002dsb.2_Silent_p.Y110Y|LAT_uc002dsc.2_Silent_p.Y109Y|LAT_uc010vdk.1_Intron|LAT_uc010vdl.1_Silent_p.Y109Y	NM_014387	NP_055202	O43561	LAT_HUMAN	linker for activation of T cells isoform a	110	Cytoplasmic (Potential).				calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity				0		Hepatocellular(780;0.244)				TGGCGAGCTACGAGAACGAGG	0.627													T	28997880	C	T	28997880	2	4	94	1	0	0	0	0	0	0	0	1	8644	547	19	1		1	LAT	16	28997880	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	85831	28997880	61356873	2671	61804											
TAOK2	9344	broad.mit.edu	37	chr16	29997696	29997696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggccgtgcagcgcacGcgggctgagctcacccgcct	13	18	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:29997696G>A	uc002dva.1	+	16	2886	c.2103G>A	c.(2101-2103)ACG>ACA	p.T701T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Silent_p.T701T|TAOK2_uc002dvc.1_Silent_p.T701T|TAOK2_uc010bzm.1_Silent_p.T708T|TAOK2_uc002dvd.1_Silent_p.T528T	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	701	Potential.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						TGCAGCGCACGCGGGCTGAGC	0.667													A	29997696	G	A	29997696	2	1	94	1	0	0	0	0	0	0	0	1	15545	1074	38	1		1	TAOK2	16	29997696	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	999816	29997696	60357057	2672	61805											
CORO1A	11151	broad.mit.edu	37	chr16	30198388	30198388	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgtgatcatggtgtgggaCgtgggcactggggcggccat	18	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:30198388C>T	uc002dww.2	+	5	602	c.480C>T	c.(478-480)GAC>GAT	p.D160D	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010vej.1_3'UTR|CORO1A_uc010bzq.2_Silent_p.D160D|CORO1A_uc010bzr.2_Silent_p.D160D|CORO1A_uc002dwx.2_Silent_p.D54D|CORO1A_uc002dwy.1_Silent_p.D4D|LOC606724_uc002dwz.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	160	WD 3.				cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity				0						TGGTGTGGGACGTGGGCACTG	0.617													T	30198388	C	T	30198388	2	4	94	1	0	0	0	0	0	0	0	1	3753	535	19	1		1	CORO1A	16	30198388	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	200692	30198388	60156365	2673	61806											
SEPT1	1731	broad.mit.edu	37	chr16	30392723	30392723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagtcctggatgttcttcCggttcaggccactctcatcc	11	13	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:30392723C>T	uc002dxy.2	-	6	564	c.377G>A	c.(376-378)CGG>CAG	p.R126Q	SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_5'UTR|SEPT1_uc010veq.1_Missense_Mutation_p.R173Q	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	septin 1	126					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			ovary(1)	1			Colorectal(24;0.193)			GATGTTCTTCCGGTTCAGGCC	0.592													T	30392723	C	T	30392723	3	4	94	1	0	0	0	0	1	0	0	0	14059	652	23	1	754	1	SEPT1	16	30392723	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	194335	30392723	59962030	2674	61807											
ZNF768	79724	broad.mit.edu	37	chr16	30536054	30536054	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtgctggatgagagtggaGgagcgattgaaggtcttgcc	18	5	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:30536054G>T	uc002dyk.3	-	2	1583	c.1407C>A	c.(1405-1407)TCC>TCA	p.S469S	ZNF768_uc010vex.1_Silent_p.S438S|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Silent_p.S438S	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	469	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0						TGAGAGTGGAGGAGCGATTGA	0.687													T	30536054	G	T	30536054	2	4	94	1	0	0	0	0	0	0	0	1	18138	987	35	5		5	ZNF768	16	30536054	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	143331	30536054	59818699	2675	61808											
ZNF764	92595	broad.mit.edu	37	chr16	30569372	30569372	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagggccctctgcgctggCcgcaagcagccccactcctc	10	19	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:30569372C>T	uc002dyq.2	-	1	213	c.132G>A	c.(130-132)CGG>CGA	p.R44R	ZNF764_uc002dyr.1_Silent_p.R44R	NM_033410	NP_219363	Q96H86	ZN764_HUMAN	zinc finger protein 764	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCTGCGCTGGCCGCAAGCAGC	0.721													T	30569372	C	T	30569372	2	4	94	1	0	0	0	0	0	0	0	1	18135	726	26	2		2	ZNF764	16	30569372	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	33318	30569372	59785381	2676	61809											
SRCAP	10847	broad.mit.edu	37	chr16	30747684	30747684	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatgaggagatgtcccgggCtgagcaggaaattgctgccc	16	9	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:30747684C>A	uc002dze.1	+	32	7278	c.6893C>A	c.(6892-6894)GCT>GAT	p.A2298D	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.A2093D	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2298	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			ATGTCCCGGGCTGAGCAGGAA	0.557													A	30747684	C	A	30747684	3	1	94	1	0	0	0	0	1	0	0	0	15134	797	28	5	7011	5	SRCAP	16	30747684	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	178312	30747684	59607069	2677	61810											
PHKG2	5261	broad.mit.edu	37	chr16	30768017	30768017	+	Frame_Shift_Del	DEL	C	C	-													cagccaaccctggaacctcaCcccccgccagcggttccggg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:30768016_30768016AC>A	uc002dzk.2	+	8	1117	c.907_907AC>A	c.(907-909)accfs	p.T303fs	PHKG2_uc021tgo.1_Frame_Shift_Del_p.T303fs	NM_000294	NP_000285	P15735	PHKG2_HUMAN	Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA.	303					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			CTGGAACCTCACCCCCCGCCA	0.627													-	30768017	C	-	30768017	7	5	94	1	0	1	0	1	0	0	0	0	11847	507	18	0	938	0	PHKG2	16	30768017	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	20333	30768017	59586736	2678	61811											
STX1B	112755	broad.mit.edu	37	chr16	31012433	31012433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctcatctgggttgggtgCggccaggatggcgctatgct	15	10	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:31012433C>T	uc010cad.2	-	3	299	c.187G>A	c.(187-189)GCA>ACA	p.A63T	STX1B_uc010vfd.1_Missense_Mutation_p.A63T	NM_052874	NP_443106	P61266	STX1B_HUMAN	syntaxin 1B	63	Potential.|Cytoplasmic (Potential).				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity				0						GGGTTGGGTGCGGCCAGGATG	0.602													T	31012433	C	T	31012433	3	4	94	1	0	0	0	0	1	0	0	0	15343	768	27	1	711	1	STX1B	16	31012433	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	244416	31012433	59342320	2679	61812											
BCKDK	10295	broad.mit.edu	37	chr16	31122516	31122516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccactggactacatcctgcCggagctgctcaagaatgcca	10	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:31122516C>T	uc002eaw.3	+	9	1137	c.821C>T	c.(820-822)CCG>CTG	p.P274L	BCKDK_uc002eav.3_Missense_Mutation_p.P274L|BCKDK_uc010cah.2_RNA|BCKDK_uc010cai.2_Missense_Mutation_p.P274L	NM_005881	NP_005872	O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	274	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			stomach(1)|breast(1)	2						TACATCCTGCCGGAGCTGCTC	0.602													T	31122516	C	T	31122516	3	4	94	1	0	0	0	0	1	0	0	0	1361	652	23	1	851	1	BCKDK	16	31122516	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	110083	31122516	59232237	2680	61813											
SLC5A2	6524	broad.mit.edu	37	chr16	31499965	31499965	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgcggactcatgctggcGgtcatgctggccgcgctcat	14	14	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:31499965G>A	uc002ecf.3	+	10	1171	c.1152G>A	c.(1150-1152)GCG>GCA	p.A384A	SLC5A2_uc010car.2_Intron|C16orf58_uc002ecg.2_RNA	NM_003041	NP_003032	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose	384	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			ovary(1)	1						TCATGCTGGCGGTCATGCTGG	0.706													A	31499965	G	A	31499965	2	1	94	1	0	0	0	0	0	0	0	1	14665	1103	39	1		1	SLC5A2	16	31499965	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	377449	31499965	58854788	2681	61814											
SHCBP1	79801	broad.mit.edu	37	chr16	46629544	46629544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggtcgtctcacactgcaGcacacagttttccagcgtag	9	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:46629544G>A	uc002eec.3	-	10	1424	c.1384C>T	c.(1384-1386)CTG>TTG	p.L462L		NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	462	PbH1 2.									ovary(1)|breast(1)	2		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TCACACTGCAGCACACAGTTT	0.453													A	46629544	G	A	46629544	2	1	94	1	0	0	0	0	0	0	0	1	14274	962	34	2		2	SHCBP1	16	46629544	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	15129579	46629544	43725209	2682	61815											
ABCC12	94160	broad.mit.edu	37	chr16	48149419	48149419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccccacgtgggcgtccacGgccgacagggggtcgtccag	15	15	0	0	rs141837830		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:48149419G>A	uc002efc.1	-	13	2242	c.1896C>T	c.(1894-1896)GCC>GCT	p.A632A	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	632	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				GGGCGTCCACGGCCGACAGGG	0.632													A	48149419	G	A	48149419	2	1	94	1	0	0	0	0	0	0	0	1	52	1103	39	1		1	ABCC12	16	48149419	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1519875	48149419	42205334	2683	61816											
ABCC11	85320	broad.mit.edu	37	chr16	48244967	48244967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccctcagaagcatgcccGttcctctccagctccagtgc	7	18	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:48244967G>A	uc002eff.1	-	10	1850	c.1500C>T	c.(1498-1500)AAC>AAT	p.N500N	ABCC11_uc002efg.1_Silent_p.N500N|ABCC11_uc002efh.1_Silent_p.N500N|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	500	Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AAGCATGCCCGTTCCTCTCCA	0.592									Cerumen_Type				A	48244967	G	A	48244967	2	1	94	1	0	0	0	0	0	0	0	1	51	1136	40	1		1	ABCC11	16	48244967	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	95548	48244967	42109786	2684	61817											
ABCC11	85320	broad.mit.edu	37	chr16	48258336	48258336	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcttcttcccaaaggcggtGaagccttgaaaagaggataa	10	8	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:48258336G>A	uc002eff.1	-	4	750	c.400C>T	c.(400-402)CAC>TAC	p.H134Y	ABCC11_uc002efg.1_Missense_Mutation_p.H134Y|ABCC11_uc002efh.1_Missense_Mutation_p.H134Y|ABCC11_uc010vgl.1_Missense_Mutation_p.H134Y	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	134	Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CAAAGGCGGTGAAGCCTTGAA	0.448									Cerumen_Type				A	48258336	G	A	48258336	3	1	94	1	0	0	0	0	1	0	0	0	51	1290	45	4	3852	4	ABCC11	16	48258336	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	13369	48258336	42096417	2685	61818											
LONP2	83752	broad.mit.edu	37	chr16	48337150	48337150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatttgccgagctgtggccGtgaaggtggcagaaggacag	16	9	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:48337150G>A	uc002efi.1	+	11	1818	c.1729G>A	c.(1729-1731)GTG>ATG	p.V577M	LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.V533M	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	577					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0						AGCTGTGGCCGTGAAGGTGGC	0.483													A	48337150	G	A	48337150	3	1	94	1	0	0	0	0	1	0	0	0	8893	1145	40	1	1771	1	LONP2	16	48337150	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	78814	48337150	42017603	2686	61819											
BRD7	29117	broad.mit.edu	37	chr16	50362621	50362621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggagaagtcccaacgtcGttgttccatctggttttctt	10	9	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:50362621G>A	uc002egf.1	-	10	1113	c.1046C>T	c.(1045-1047)ACG>ATG	p.T349M	BRD7_uc002ege.1_Missense_Mutation_p.T349M	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	bromodomain containing 7	349					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding				0		all_cancers(37;0.0127)				TCCCAACGTCGTTGTTCCATC	0.373													A	50362621	G	A	50362621	3	1	94	1	0	0	0	0	1	0	0	0	1505	1145	40	1	948	1	BRD7	16	50362621	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2025471	50362621	39992132	2687	61820											
NOD2	64127	broad.mit.edu	37	chr16	50745331	50745331	+	Frame_Shift_Del	DEL	G	G	-													caggaactgttgctgcaggaGggggggtccccaaagaccac							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:50745330_50745330AG>A	uc002egm.1	+	3	1613	c.1508_1508AG>A	c.(1507-1509)gagfs	p.E503fs	NOD2_uc021tia.1_Frame_Shift_Del_p.E335fs|NOD2_uc010cbk.1_Frame_Shift_Del_p.E476fs|NOD2_uc002egl.1_Frame_Shift_Del_p.E281fs|NOD2_uc010cbl.1_Frame_Shift_Del_p.E281fs|NOD2_uc010cbm.1_Frame_Shift_Del_p.E281fs|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	503	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TTGCTGCAGGAGGGGGGGTCC	0.572													-	50745331	G	-	50745331	7	5	94	1	0	1	0	1	0	0	0	0	10517	991	35	0	1523	0	NOD2	16	50745331	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	382710	50745331	39609422	2688	61821											
CYLD	1540	broad.mit.edu	37	chr16	50826532	50826532	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcatgtctgattattcagAtgcctcgatttggaaaagac	8	8	3	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:50826532A>C	uc002egp.1	+	16	2681	c.2266A>C	c.(2266-2268)ATG>CTG	p.M756L	CYLD_uc010cbs.1_Missense_Mutation_p.M753L|CYLD_uc002egq.1_Missense_Mutation_p.M753L|CYLD_uc002egr.1_Missense_Mutation_p.M753L	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	756					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				GATTATTCAGATGCCTCGATT	0.274			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial				C	50826532	A	C	50826532	3	2	94	1	0	0	0	0	1	0	0	0	4143	333	12	5	2320	5	CYLD	16	50826532	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	81201	50826532	39528221	2689	61822											
CYLD	1540	broad.mit.edu	37	chr16	50828188	50828188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacttcccaaagacttaccCgactgggactggagacacgg	10	13	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:50828188C>T	uc002egp.1	+	18	2950	c.2535C>T	c.(2533-2535)CCC>CCT	p.P845P	CYLD_uc010cbs.1_Silent_p.P842P|CYLD_uc002egq.1_Silent_p.P842P|CYLD_uc002egr.1_Silent_p.P842P	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	845					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				AAGACTTACCCGACTGGGACT	0.423			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial				T	50828188	C	T	50828188	2	4	94	1	0	0	0	0	0	0	0	1	4143	639	23	1		1	CYLD	16	50828188	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1656	50828188	39526565	2690	61823											
TOX3	27324	broad.mit.edu	37	chr16	52478236	52478236	+	Frame_Shift_Del	DEL	T	T	-													gccagggccttcaggtattcTtttttggcagcttctgtttt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:52478236delT	uc002egw.2	-	6	1110	c.939delA	c.(937-939)AAAfs	p.K313fs	TOX3_uc010vgt.1_Frame_Shift_Del_p.K308fs|TOX3_uc010vgu.1_Frame_Shift_Del_p.K313fs	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	313	HMG box.				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity				0						TCAGGTATTCTTTTTTGGCAG	0.463													-	52478236	T	-	52478236	7	5	94	1	0	1	0	1	0	0	0	0	16376	1606	56	0	799	0	TOX3	16	52478236	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	1650048	52478236	37876517	2691	61824											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53691536	53691536	+	Frame_Shift_Del	DEL	T	T	-													aggtctccatttttttgttcTttttgagcctaaaataaaaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:53691536delT	uc002ehp.2	-	13	1474	c.1410delA	c.(1408-1410)AAAfs	p.K470fs	RPGRIP1L_uc002eho.3_Frame_Shift_Del_p.K470fs|RPGRIP1L_uc010vgy.1_Frame_Shift_Del_p.K470fs|RPGRIP1L_uc010cbx.2_Frame_Shift_Del_p.K470fs|RPGRIP1L_uc010vgz.1_Frame_Shift_Del_p.K470fs	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	470	Potential.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				TTTTTTGTTCTTTTTGAGCCT	0.279													-	53691536	T	-	53691536	7	5	94	1	0	1	0	1	0	0	0	0	13550	1606	56	0	2597	0	RPGRIP1L	16	53691536	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	1213300	53691536	36663217	2692	61825											
COQ9	57017	broad.mit.edu	37	chr16	57494015	57494015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcatgggtgcagcagtgaCggtgagtactgcccagcaca	13	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:57494015C>T	uc002elq.2	+	8	936	c.920C>T	c.(919-921)ACG>ATG	p.T307M	COQ9_uc002elr.2_Missense_Mutation_p.T272M|COQ9_uc002els.2_Missense_Mutation_p.T100M|POLR2C_uc010vhq.1_5'Flank|POLR2C_uc002elt.1_5'Flank	NM_020312	NP_064708	O75208	COQ9_HUMAN	coenzyme Q9 homolog precursor	307					ubiquinone biosynthetic process	mitochondrion				breast(1)	1						GCAGCAGTGACGGTGAGTACT	0.527													T	57494015	C	T	57494015	3	4	94	1	0	0	0	0	1	0	0	0	3751	550	19	1	950	1	COQ9	16	57494015	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3802479	57494015	32860738	2693	61826											
CCDC135	84229	broad.mit.edu	37	chr16	57756718	57756718	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacctcaatagcaatggccTtgtgagccgcctcaccacct	8	15	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:57756718T>G	uc002emi.2	+	10	1462	c.1373T>G	c.(1372-1374)CTT>CGT	p.L458R	CCDC135_uc002emj.2_Missense_Mutation_p.L458R|CCDC135_uc002emk.2_Missense_Mutation_p.L393R	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	458						cytoplasm				central_nervous_system(1)	1						AGCAATGGCCTTGTGAGCCGC	0.592													G	57756718	T	G	57756718	3	3	94	1	0	0	0	0	1	0	0	0	2769	1609	56	5	1407	5	CCDC135	16	57756718	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	262703	57756718	32598035	2694	61827											
KATNB1	10300	broad.mit.edu	37	chr16	57778372	57778372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccgaggagctcatcgtgGccggctctcagtcgggctcc	13	17	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:57778372G>A	uc002eml.1	+	4	612	c.238G>A	c.(238-240)GCC>ACC	p.A80T		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	80	WD 2.|Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity				0		all_neural(199;0.223)				GCTCATCGTGGCCGGCTCTCA	0.637													A	57778372	G	A	57778372	3	1	94	1	0	0	0	0	1	0	0	0	7987	1203	42	2	248	2	KATNB1	16	57778372	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	21654	57778372	32576381	2695	61828											
CNOT1	23019	broad.mit.edu	37	chr16	58579291	58579291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcagagtaatgtgtggtgCcaagcccgcaagggaataga	13	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:58579291C>T	uc002env.2	-	30	4404	c.4111G>A	c.(4111-4113)GCA>ACA	p.A1371T	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.A1366T|CNOT1_uc002enx.2_Missense_Mutation_p.A1371T|CNOT1_uc010vik.1_Missense_Mutation_p.A328T	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1371					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATGTGTGGTGCCAAGCCCGCA	0.463													T	58579291	C	T	58579291	3	4	94	1	0	0	0	0	1	0	0	0	3617	739	26	2	3321	2	CNOT1	16	58579291	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	800919	58579291	31775462	2696	61829											
SLC38A7	55238	broad.mit.edu	37	chr16	58705111	58705111	+	Frame_Shift_Del	DEL	C	C	-													cacgtcctcctccactggcaCcccctggtagcgcagccaca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:58705111delC	uc002eod.1	-	10	1462	c.1069delG	c.(1069-1071)GTGfs	p.V357fs	SLC38A7_uc002eob.1_RNA|SLC38A7_uc002eoc.1_Intron|SLC38A7_uc010vil.1_Frame_Shift_Del_p.V268fs	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	357					amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1						TCCACTGGCACCCCCTGGTAG	0.677													-	58705111	C	-	58705111	7	5	94	1	0	1	0	1	0	0	0	0	14609	507	18	0	331	0	SLC38A7	16	58705111	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	125820	58705111	31649642	2697	61830											
CDH5	1003	broad.mit.edu	37	chr16	66436947	66436947	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtccatagccgagtccctcAgctccctgggcaccgactca	9	17	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:66436947A>G	uc002eom.3	+	12	2386	c.2230A>G	c.(2230-2232)AGC>GGC	p.S744G		NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	744	Cytoplasmic (Potential).|Ser-rich.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CGAGTCCCTCAGCTCCCTGGG	0.622													G	66436947	A	G	66436947	3	3	94	1	0	0	0	0	1	0	0	0	3113	188	7	3	2272	3	CDH5	16	66436947	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	7731836	66436947	23917806	2698	61831											
CES8	283848	broad.mit.edu	37	chr16	67035282	67035282	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgcgctgggtgcaggAgaacatcgcagccttcgggg	17	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67035282A>G	uc002eqv.2	+	5	651	c.608A>G	c.(607-609)GAG>GGG	p.E203G	CES8_uc010vix.1_Missense_Mutation_p.E203G|CES8_uc002eqw.2_Missense_Mutation_p.E203G|CES8_uc002eqy.2_Missense_Mutation_p.E105G|CES8_uc002eqx.2_Missense_Mutation_p.E9G|CES8_uc010viy.1_Missense_Mutation_p.E109G|CES8_uc010viz.1_Missense_Mutation_p.E105G	NM_173815	NP_776176	Q5XG92	EST4A_HUMAN	carboxylesterase 8 (putative)	203						extracellular region	carboxylesterase activity				0						TGGGTGCAGGAGAACATCGCA	0.662													G	67035282	A	G	67035282	3	3	94	1	0	0	0	0	1	0	0	0	3273	304	11	3	707	3	CES8	16	67035282	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	598335	67035282	23319471	2699	61832											
EXOC3L	283849	broad.mit.edu	37	chr16	67219121	67219121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactttgcaggagctcagggCtcgacagccattggcgcgag	14	12	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67219121C>T	uc002erx.1	-	11	1908	c.1667G>A	c.(1666-1668)AGC>AAC	p.S556N	KIAA0895L_uc002ert.2_5'Flank|KIAA0895L_uc002eru.2_5'Flank|EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Missense_Mutation_p.S207N|EXOC3L_uc002ery.1_Missense_Mutation_p.S458N|EXOC3L_uc010vje.1_Missense_Mutation_p.S453N	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	556					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		GAGCTCAGGGCTCGACAGCCA	0.637													T	67219121	C	T	67219121	3	4	94	1	0	0	0	0	1	0	0	0	5304	797	28	2	589	2	EXOC3L	16	67219121	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	183839	67219121	23135632	2700	61833											
EXOC3L	283849	broad.mit.edu	37	chr16	67223035	67223035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggcccacttgagcgctGcaccccgggccagctgctct	12	17	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67223035G>A	uc002erx.1	-	3	336	c.95C>T	c.(94-96)GCA>GTA	p.A32V	EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_5'UTR|EXOC3L_uc002ery.1_Missense_Mutation_p.A37V|EXOC3L_uc010vje.1_Missense_Mutation_p.A32V	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	32	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		CTTGAGCGCTGCACCCCGGGC	0.682													A	67223035	G	A	67223035	3	1	94	1	0	0	0	0	1	0	0	0	5304	1319	46	2	2193	2	EXOC3L	16	67223035	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3914	67223035	23131718	2701	61834											
FHOD1	29109	broad.mit.edu	37	chr16	67270900	67270900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacgcgcggggcagccccCgccttccagagaacggcggc	16	17	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67270900C>T	uc002esl.2	-	10	1223	c.1111G>A	c.(1111-1113)GGG>AGG	p.G371R	FHOD1_uc010ced.2_Missense_Mutation_p.G178R|FHOD1_uc010vjh.1_Silent_p.A33A	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	371	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GGGCAGCCCCCGCCTTCCAGA	0.622													T	67270900	C	T	67270900	3	4	94	1	0	0	0	0	1	0	0	0	5882	652	23	1	2435	1	FHOD1	16	67270900	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	47865	67270900	23083853	2702	61835											
KCTD19	146212	broad.mit.edu	37	chr16	67333364	67333364	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccagcgcagagtccgggtaCttgaccagcagacccagggc	13	15	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67333364C>A	uc002esu.2	-	6	939	c.888G>T	c.(886-888)AAG>AAT	p.K296N	KCTD19_uc002est.2_Missense_Mutation_p.K68N|KCTD19_uc010vjj.1_Missense_Mutation_p.K39N	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	296						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AGTCCGGGTACTTGACCAGCA	0.627													A	67333364	C	A	67333364	3	1	94	1	0	0	0	0	1	0	0	0	8106	564	20	5	1936	5	KCTD19	16	67333364	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	62464	67333364	23021389	2703	61836											
HSD11B2	3291	broad.mit.edu	37	chr16	67470622	67470622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagttcctgcactcgctaCgcctggccatgtccgacctc	10	17	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67470622C>T	uc002etd.2	+	5	1050	c.934C>T	c.(934-936)CGC>TGC	p.R312C		NM_000196	NP_000187	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	312					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	GCACTCGCTACGCCTGGCCAT	0.642													T	67470622	C	T	67470622	3	4	94	1	0	0	0	0	1	0	0	0	7377	536	19	1	952	1	HSD11B2	16	67470622	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	137258	67470622	22884131	2704	61837											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67472920	67472920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgttcatagtcgtcagccCgagccagctgcgccaggccc	11	17	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67472920C>T	uc002ete.1	-	6	870	c.770G>A	c.(769-771)CGG>CAG	p.R257Q	ATP6V0D1_uc010vjo.1_Missense_Mutation_p.R298Q|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.R180Q	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	257					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		GTCGTCAGCCCGAGCCAGCTG	0.602													T	67472920	C	T	67472920	3	4	94	1	0	0	0	0	1	0	0	0	1173	652	23	1	297	1	ATP6V0D1	16	67472920	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2298	67472920	22881833	2705	61838											
CTCF	10664	broad.mit.edu	37	chr16	67645339	67645339	+	Frame_Shift_Del	DEL	A	A	-													cagactatcagccaccagccAaaaaaacaaagaaaaccaaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67645339delA	uc002etl.2	+	3	894	c.604delA	c.(604-606)AAAfs	p.K202fs	CTCF_uc010cek.2_Intron	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	202					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GCCACCAGCCAAAAAAACAAA	0.478													-	67645339	A	-	67645339	7	5	94	1	0	1	0	1	0	0	0	0	4000	131	5	0	606	0	CTCF	16	67645339	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	172419	67645339	22709414	2706	61839											
ACD	65057	broad.mit.edu	37	chr16	67694125	67694125	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctccccgaacctgccatcCccacggctacacccagcgga	8	21	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67694125C>A	uc002etq.3	-	1	594	c.257G>T	c.(256-258)GGG>GTG	p.G86V	ACD_uc002etp.3_Missense_Mutation_p.G86V|ACD_uc002etr.3_Missense_Mutation_p.G86V|ACD_uc010vjt.1_Missense_Mutation_p.G76V|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	86					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		ACCTGCCATCCCCACGGCTAC	0.697													A	67694125	C	A	67694125	3	1	94	1	0	0	0	0	1	0	0	0	135	623	22	5	1425	5	ACD	16	67694125	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	48786	67694125	22660628	2707	61840											
C16orf48	84080	broad.mit.edu	37	chr16	67700086	67700086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccgggaccgatgcagggGccacggggagcggtggtgtc	20	11	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67700086G>A	uc002etw.1	-	2	451	c.168C>T	c.(166-168)GGC>GGT	p.G56G	C16orf48_uc002etv.1_5'Flank|C16orf48_uc010cem.1_Silent_p.G56G|C16orf86_uc002etx.1_5'Flank|C16orf86_uc002ety.2_5'Flank|C16orf86_uc002etz.2_5'Flank	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN	hypothetical protein LOC84080	56						microtubule cytoskeleton	protein binding				0		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CGATGCAGGGGCCACGGGGAG	0.711													A	67700086	G	A	67700086	2	1	94	1	0	0	0	0	0	0	0	1	1816	1190	42	2		2	C16orf48	16	67700086	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	5961	67700086	22654667	2708	61841											
GFOD2	81577	broad.mit.edu	37	chr16	67709523	67709523	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcactgtgctacacacaccCccacccatgagcatctggaa	7	16	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67709523C>A	uc002eub.2	-	3	988	c.693G>T	c.(691-693)GGG>GGT	p.G231G	GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Silent_p.G126G	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain	231						proteinaceous extracellular matrix	binding|oxidoreductase activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TACACACACCCCCACCCATGA	0.582													A	67709523	C	A	67709523	2	1	94	1	0	0	0	0	0	0	0	1	6344	610	22	5		5	GFOD2	16	67709523	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	9437	67709523	22645230	2709	61842											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67861838	67861838	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctccagactgccctggagcGgcttcaggtgattgacatca	11	13	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67861838G>T	uc002euj.2	+	16	2313	c.1919G>T	c.(1918-1920)CGG>CTG	p.R640L	TSNAXIP1_uc002euf.3_3'UTR|TSNAXIP1_uc010vka.1_Missense_Mutation_p.R694L|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.R625L|TSNAXIP1_uc002eug.3_Missense_Mutation_p.R348L|TSNAXIP1_uc002euh.3_Missense_Mutation_p.R348L|TSNAXIP1_uc002eui.3_Missense_Mutation_p.R348L|TSNAXIP1_uc002euk.2_Missense_Mutation_p.R373L	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	640					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GCCCTGGAGCGGCTTCAGGTG	0.592													T	67861838	G	T	67861838	3	4	94	1	0	0	0	0	1	0	0	0	16629	1116	39	5	1973	5	TSNAXIP1	16	67861838	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	152315	67861838	22492915	2710	61843											
PSKH1	5681	broad.mit.edu	37	chr16	67943431	67943431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaagaccacctgtggcaCgcctgagtacattgccccag	11	13	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67943431C>T	uc002euv.2	+	2	949	c.779C>T	c.(778-780)ACG>ATG	p.T260M	PSKH1_uc010cet.2_Missense_Mutation_p.T260M	NM_006742	NP_006733	P11801	KPSH1_HUMAN	protein serine kinase H1	260	Protein kinase.					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		ACCTGTGGCACGCCTGAGTAC	0.572													T	67943431	C	T	67943431	3	4	94	1	0	0	0	0	1	0	0	0	12664	536	19	1	781	1	PSKH1	16	67943431	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	81593	67943431	22411322	2711	61844											
ESRP2	80004	broad.mit.edu	37	chr16	68265115	68265115	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggaggggacatgccactGcggcccaaggtgccccccat	15	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:68265115G>A	uc010cfa.1	-	12	1895	c.1707C>T	c.(1705-1707)CGC>CGT	p.R569R	ESRP2_uc002evp.1_Intron|ESRP2_uc002evq.1_Silent_p.R559R	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	RNA binding motif protein 35B	569					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1						ACATGCCACTGCGGCCCAAGG	0.627													A	68265115	G	A	68265115	2	1	94	1	0	0	0	0	0	0	0	1	5259	1306	46	2		2	ESRP2	16	68265115	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	321684	68265115	22089638	2712	61845											
SMPD3	55512	broad.mit.edu	37	chr16	68405948	68405948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggtcgtctgcccgctggCgcttctcgtaggtggtgggt	17	11	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:68405948C>T	uc002ewa.2	-	3	559	c.137G>A	c.(136-138)CGC>CAC	p.R46H	SMPD3_uc010cfe.2_Missense_Mutation_p.R46H|SMPD3_uc010vlh.1_Missense_Mutation_p.R46H	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	46	Cytoplasmic (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TGCCCGCTGGCGCTTCTCGTA	0.642													T	68405948	C	T	68405948	3	4	94	1	0	0	0	0	1	0	0	0	14806	768	27	1	1858	1	SMPD3	16	68405948	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	140833	68405948	21948805	2713	61846											
HAS3	3038	broad.mit.edu	37	chr16	69143688	69143688	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaccgccaggaggacgcCtacatgctggacatcttcca	11	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:69143688C>A	uc010cfh.2	+	2	614	c.390C>A	c.(388-390)GCC>GCA	p.A130A	HAS3_uc002ewk.2_Silent_p.A130A|HAS3_uc010vlk.1_Silent_p.A130A|HAS3_uc002ewl.2_Silent_p.A130A	NM_005329	NP_005320	O00219	HAS3_HUMAN	hyaluronan synthase 3 isoform a	130	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		AGGAGGACGCCTACATGCTGG	0.637													A	69143688	C	A	69143688	2	1	94	1	0	0	0	0	0	0	0	1	6963	668	24	5		5	HAS3	16	69143688	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	737740	69143688	21211065	2714	61847											
CIRH1A	84916	broad.mit.edu	37	chr16	69171777	69171777	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtttgaaagaaattttgAtcggcagaaaagtaagcgtc	10	6	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:69171777A>G	uc002ews.3	+	4	521	c.425A>G	c.(424-426)GAT>GGT	p.D142G	CIRH1A_uc002ewr.2_Missense_Mutation_p.D142G|CIRH1A_uc002ewt.3_Missense_Mutation_p.D59G|CIRH1A_uc010cfi.2_Missense_Mutation_p.D59G	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	cirhin	142						nucleolus	protein binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.125)		AGAAATTTTGATCGGCAGAAA	0.378													G	69171777	A	G	69171777	3	3	94	1	0	0	0	0	1	0	0	0	3434	333	12	3	435	3	CIRH1A	16	69171777	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	28089	69171777	21182976	2715	61848											
COG8	84342	broad.mit.edu	37	chr16	69373160	69373160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccaaacaggcggtggatgCgctcggtgcactcggcgccg	16	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:69373160C>T	uc002ewy.2	-	1	367	c.296G>A	c.(295-297)CGC>CAC	p.R99H	COG8_uc002ewz.3_Missense_Mutation_p.R99H|NIP7_uc002exa.2_5'Flank|NIP7_uc002exb.2_5'Flank	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	99					protein transport	Golgi membrane|Golgi transport complex				ovary(1)	1						GCGGTGGATGCGCTCGGTGCA	0.697													T	69373160	C	T	69373160	3	4	94	1	0	0	0	0	1	0	0	0	3664	768	27	1	1562	1	COG8	16	69373160	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	201383	69373160	20981593	2716	61849											
NOB1	28987	broad.mit.edu	37	chr16	69788525	69788525	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtattccggtaagggctcCttgaaccgcagctcgtaggg	13	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:69788525C>A	uc002exs.2	-	2	184	c.168G>T	c.(166-168)AAG>AAT	p.K56N		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	nin one binding protein	56	PINc.					nucleus	metal ion binding|protein binding				0						GTAAGGGCTCCTTGAACCGCA	0.632													A	69788525	C	A	69788525	3	1	94	1	0	0	0	0	1	0	0	0	10511	680	24	5	1102	5	NOB1	16	69788525	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	415365	69788525	20566228	2717	61850											
WWP2	11060	broad.mit.edu	37	chr16	69905707	69905707	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttctactttgaacccccagGacgcacagacattcgggtgc	9	13	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:69905707G>T	uc002exu.1	+	8	665	c.576G>T	c.(574-576)CGG>CGT	p.R192R	WWP2_uc002ext.2_Silent_p.R192R|WWP2_uc002exv.1_Silent_p.R192R|WWP2_uc010vlm.1_Silent_p.R76R	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	192					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			lung(3)|ovary(1)|breast(1)|skin(1)	6						GAACCCCCAGGACGCACAGAC	0.537													T	69905707	G	T	69905707	2	4	94	1	0	0	0	0	0	0	0	1	17413	1188	41	5		5	WWP2	16	69905707	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	117182	69905707	20449046	2718	61851											
AARS	16	broad.mit.edu	37	chr16	70310972	70310972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattatgtttgcccccagccCggatgcacttctgggtattg	10	12	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:70310972C>T	uc002eyn.1	-	3	340	c.230G>A	c.(229-231)CGG>CAG	p.R77Q		NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	77					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GCCCCCAGCCCGGATGCACTT	0.483													T	70310972	C	T	70310972	3	4	94	1	0	0	0	0	1	0	0	0	19	652	23	1	2752	1	AARS	16	70310972	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	405265	70310972	20043781	2719	61852											
FUK	197258	broad.mit.edu	37	chr16	70497538	70497538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctagaactggaagtgcGgcagaagcgggagcagatcc	15	10	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:70497538G>A	uc002eyy.2	+	3	153	c.95G>A	c.(94-96)CGG>CAG	p.R32Q	FUK_uc010vmb.1_Missense_Mutation_p.R32Q|FUK_uc010cft.2_Missense_Mutation_p.R32Q|FUK_uc002eyz.2_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	32						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)				CTGGAAGTGCGGCAGAAGCGG	0.617													A	70497538	G	A	70497538	3	1	94	1	0	0	0	0	1	0	0	0	6096	1116	39	1	101	1	FUK	16	70497538	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	186566	70497538	19857215	2720	61853											
COG4	25839	broad.mit.edu	37	chr16	70514920	70514920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatccaggcagctacaggCgcagcctcttgatatcttca	8	14	4	1	rs142971847		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:70514920C>T	uc002ezc.2	-	19	2374	c.2363G>A	c.(2362-2364)CGC>CAC	p.R788H	COG4_uc002eza.2_Missense_Mutation_p.R125H|COG4_uc002ezb.2_Missense_Mutation_p.R244H|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.R767H|COG4_uc002eze.2_Missense_Mutation_p.R482H	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	784	E domain; essential for proper cell surface glycosylation.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				CAGCTACAGGCGCAGCCTCTT	0.627													T	70514920	C	T	70514920	3	4	94	1	0	0	0	0	1	0	0	0	3660	768	27	1	10	1	COG4	16	70514920	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	17382	70514920	19839833	2721	61854											
DHX38	9785	broad.mit.edu	37	chr16	72143392	72143392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttctatagcgtgaaacagGcgggcaagtcacggcaggtg	15	8	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:72143392G>A	uc002fcb.2	+	25	3815	c.3460G>A	c.(3460-3462)GCG>ACG	p.A1154T	DHX38_uc010vmp.1_Missense_Mutation_p.A466T	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1154					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)				CGTGAAACAGGCGGGCAAGTC	0.612													A	72143392	G	A	72143392	3	1	94	1	0	0	0	0	1	0	0	0	4511	1203	42	2	3554	2	DHX38	16	72143392	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1628472	72143392	18211361	2722	61855											
DHX38	9785	broad.mit.edu	37	chr16	72146337	72146337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagatctacactccaggcCggaaagagcaaggggagccc	13	12	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:72146337C>T	uc002fcb.2	+	27	3980	c.3625C>T	c.(3625-3627)CGG>TGG	p.R1209W	DHX38_uc010vmp.1_Missense_Mutation_p.R521W	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1209					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)				CACTCCAGGCCGGAAAGAGCA	0.622													T	72146337	C	T	72146337	3	4	94	1	0	0	0	0	1	0	0	0	4511	643	23	1	3727	1	DHX38	16	72146337	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2945	72146337	18208416	2723	61856											
ZFHX3	463	broad.mit.edu	37	chr16	72821960	72821960	+	Frame_Shift_Del	DEL	G	G	-													ttgtctggggaaggagccccGggggggactggggtttggct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:72821960delG	uc002fck.2	-	10	10888	c.10215delC	c.(10213-10215)CCCfs	p.P3405fs	ZFHX3_uc002fcl.2_Frame_Shift_Del_p.P2491fs	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3405					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				AAGGAGCCCCGGGGGGGACTG	0.413													-	72821960	G	-	72821960	7	5	94	1	0	1	0	1	0	0	0	0	17631	1103	39	0	900	0	ZFHX3	16	72821960	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	675623	72821960	17532793	2724	61857											
ZFHX3	463	broad.mit.edu	37	chr16	72830944	72830944	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccttttctttgatgaccaaTttgttcttcttttcggggtg	8	8	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:72830944T>A	uc002fck.2	-	9	6310	c.5637A>T	c.(5635-5637)AAA>AAT	p.K1879N	ZFHX3_uc002fcl.2_Missense_Mutation_p.K965N	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1879					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				TGATGACCAATTTGTTCTTCT	0.542													A	72830944	T	A	72830944	3	1	94	1	0	0	0	0	1	0	0	0	17631	1490	52	5	5482	5	ZFHX3	16	72830944	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	8984	72830944	17523809	2725	61858											
ZFHX3	463	broad.mit.edu	37	chr16	72831385	72831385	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgttgttgttgttgttgTtgctgttgctgctgctgttg	14	4	0	0	rs76691369		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:72831385T>C	uc002fck.2	-	9	5869	c.5196A>G	c.(5194-5196)CAA>CAG	p.Q1732Q	ZFHX3_uc002fcl.2_Silent_p.Q818Q	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1732	Poly-Gln.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				gttgttgttgttgctgttgct	0.413													C	72831385	T	C	72831385	2	2	94	1	0	0	0	0	0	0	0	1	17631	1722	60	3		3	ZFHX3	16	72831385	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	441	72831385	17523368	2726	61859											
ZFHX3	463	broad.mit.edu	37	chr16	72991553	72991553	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgttgcagtaacatcatgTtatgcatgtgcttctcactg	8	9	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:72991553T>C	uc002fck.2	-	2	3165	c.2492A>G	c.(2491-2493)AAC>AGC	p.N831S	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	831					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				TAACATCATGTTATGCATGTG	0.562													C	72991553	T	C	72991553	3	2	94	1	0	0	0	0	1	0	0	0	17631	1725	60	3	8655	3	ZFHX3	16	72991553	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	160168	72991553	17363200	2727	61860											
MLKL	197259	broad.mit.edu	37	chr16	74729555	74729555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgatcaggccgaggacgCggtggcccaggcgccggcac	17	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:74729555C>T	uc002fdb.2	-	2	542	c.101G>A	c.(100-102)CGC>CAC	p.R34H	MLKL_uc002fdc.2_Missense_Mutation_p.R34H	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like isoform 1	34							ATP binding|protein binding|protein kinase activity			stomach(2)	2						GCCGAGGACGCGGTGGCCCAG	0.532													T	74729555	C	T	74729555	3	4	94	1	0	0	0	0	1	0	0	0	9619	768	27	1	1385	1	MLKL	16	74729555	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1738002	74729555	15625198	2728	61861											
LDHD	197257	broad.mit.edu	37	chr16	75146325	75146325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgccgcatggtctccaCgcccacggcgcccacctcct	10	20	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:75146325C>T	uc002fdm.2	-	11	1500	c.1453G>A	c.(1453-1455)GTG>ATG	p.V485M	LDHD_uc002fdn.2_Missense_Mutation_p.V462M	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	D-lactate dehydrogenase isoform 1 precursor	485							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding				0						ATGGTCTCCACGCCCACGGCG	0.652													T	75146325	C	T	75146325	3	4	94	1	0	0	0	0	1	0	0	0	8703	536	19	1	74	1	LDHD	16	75146325	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	416770	75146325	15208428	2729	61862											
BCAR1	9564	broad.mit.edu	37	chr16	75276437	75276437	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacctggtagatgtcatgCcccatcccggcagaaggtgg	15	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:75276437C>T	uc002fdv.2	-	2	687	c.564G>A	c.(562-564)GGG>GGA	p.G188G	BCAR1_uc010cgu.2_Silent_p.G159G|BCAR1_uc010vna.1_Silent_p.G186G|BCAR1_uc010vnb.1_Silent_p.G234G|BCAR1_uc002fdw.2_Silent_p.G188G|BCAR1_uc010vnc.1_Intron|BCAR1_uc010vnd.1_Silent_p.G206G|BCAR1_uc002fdx.2_Silent_p.G206G	NM_014567	NP_055382	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	188	Substrate for kinases (By similarity).				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			central_nervous_system(5)|breast(2)|prostate(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGATGTCATGCCCCATCCCGG	0.652													T	75276437	C	T	75276437	2	4	94	1	0	0	0	0	0	0	0	1	1348	726	26	2		2	BCAR1	16	75276437	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	130112	75276437	15078316	2730	61863											
BCAR1	9564	broad.mit.edu	37	chr16	75276727	75276727	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggaggccggaggcgctgGggcatggaggccaggctgag	22	9	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:75276727G>T	uc002fdv.2	-	2	397	c.274C>A	c.(274-276)CCA>ACA	p.P92T	BCAR1_uc010cgu.2_Missense_Mutation_p.P63T|BCAR1_uc010vna.1_Missense_Mutation_p.P90T|BCAR1_uc010vnb.1_Missense_Mutation_p.P138T|BCAR1_uc002fdw.2_Missense_Mutation_p.P92T|BCAR1_uc010vnc.1_Intron|BCAR1_uc010vnd.1_Missense_Mutation_p.P110T|BCAR1_uc002fdx.2_Missense_Mutation_p.P110T	NM_014567	NP_055382	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	92					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			central_nervous_system(5)|breast(2)|prostate(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGAGGCGCTGGGGCATGGAGG	0.682													T	75276727	G	T	75276727	3	4	94	1	0	0	0	0	1	0	0	0	1348	1232	43	5	2423	5	BCAR1	16	75276727	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	290	75276727	15078026	2731	61864											
CHST6	4166	broad.mit.edu	37	chr16	75513267	75513267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtgaaggactgccgcgCgcacagtggcttgcacacgg	16	12	0	1	rs2550908		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:75513267C>T	uc002fef.2	-	3	640	c.460G>A	c.(460-462)GCG>ACG	p.A154T	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.A154T	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	154	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GACTGCCGCGCGCACAGTGGC	0.682													T	75513267	C	T	75513267	3	4	94	1	0	0	0	0	1	0	0	0	3408	768	27	1	731	1	CHST6	16	75513267	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	236540	75513267	14841486	2732	61865											
ADAMTS18	170692	broad.mit.edu	37	chr16	77389931	77389931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacatgatattgccttcagCctttctgcagggattccctt	8	11	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:77389931C>T	uc002ffc.3	-	9	1785	c.1366G>A	c.(1366-1368)GCT>ACT	p.A456T	ADAMTS18_uc010chc.1_Missense_Mutation_p.A44T|ADAMTS18_uc002ffe.1_Missense_Mutation_p.A152T|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	456	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TTGCCTTCAGCCTTTCTGCAG	0.433													T	77389931	C	T	77389931	3	4	94	1	0	0	0	0	1	0	0	0	263	739	26	2	2359	2	ADAMTS18	16	77389931	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1876664	77389931	12964822	2733	61866											
CDYL2	124359	broad.mit.edu	37	chr16	80667009	80667009	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaacgatgtctcgaaaccgAcagttgctttcattctggcg	9	11	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:80667009A>G	uc002ffs.2	-	3	846	c.741T>C	c.(739-741)TGT>TGC	p.C247C		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	247						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						CTCGAAACCGACAGTTGCTTT	0.522													G	80667009	A	G	80667009	2	3	94	1	0	0	0	0	0	0	0	1	3186	273	10	3		3	CDYL2	16	80667009	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	3277078	80667009	9687744	2734	61867											
C16orf61	56942	broad.mit.edu	37	chr16	81009998	81009998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaaaatacaatttatttttCggattcctctggaggattaa	7	5	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:81009998C>T	uc002ffu.2	-	4	431	c.232G>A	c.(232-234)GAA>AAA	p.E78K	C16orf61_uc002ffv.2_RNA	NM_020188	NP_064573	Q9NRP2	CP061_HUMAN	hypothetical protein LOC56942	78											0						ATTTATTTTTCGGATTCCTCT	0.408													T	81009998	C	T	81009998	3	4	94	1	0	0	0	0	1	0	0	0	1824	893	31	1	11	1	C16orf61	16	81009998	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	342989	81009998	9344755	2735	61868											
PKD1L2	114780	broad.mit.edu	37	chr16	81161457	81161457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagatgggatacccttgacGttggtcctggctctggtact	12	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:81161457G>A	uc002fgh.1	-	38	6259	c.6259C>T	c.(6259-6261)CGT>TGT	p.R2087C	PKD1L2_uc002fgf.1_Translation_Start_Site|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	2087	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TACCCTTGACGTTGGTCCTGG	0.572													A	81161457	G	A	81161457	3	1	94	1	0	0	0	0	1	0	0	0	11965	1136	40	1	1152	1	PKD1L2	16	81161457	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	151459	81161457	9193296	2736	61869											
PLCG2	5336	broad.mit.edu	37	chr16	81942125	81942126	+	Frame_Shift_Ins	INS	-	-	G													aggaatactgcatggagacgINSgggggcaaggatggcacctt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:81942124_81942125C>CG	uc002fgt.3	+	16	1839_1840	c.1661_1662C>CG	c.(1660-1662)acgfs	p.T554fs	PLCG2_uc010chg.1_Frame_Shift_Ins_p.T554fs	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	554	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGCATGGAGACGGGGGGCAAGG	0.559													G	81942126	-	G	81942125	7	5	94	1	0	1	1	0	0	0	0	0	12036	1103	39	0	1724	0	PLCG2	16	81942125	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	780668	81942125	8412628	2737	61870											
PLCG2	5336	broad.mit.edu	37	chr16	81944244	81944244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctcatccagcactaccGcgagacgcacctgcgctgcg	10	18	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:81944244G>A	uc002fgt.2	+	18	2005	c.1853G>A	c.(1852-1854)CGC>CAC	p.R618H	PLCG2_uc010chg.1_Missense_Mutation_p.R618H	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	618	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						CAGCACTACCGCGAGACGCAC	0.627													A	81944244	G	A	81944244	3	1	94	1	0	0	0	0	1	0	0	0	12036	1087	38	1	1919	1	PLCG2	16	81944244	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2119	81944244	8410509	2738	61871											
CDH13	1012	broad.mit.edu	37	chr16	83378590	83378590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcccctacatcggccacGtcatggaagggtcacccaca	10	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:83378590G>A	uc002fgx.2	+	6	880	c.760G>A	c.(760-762)GTC>ATC	p.V254I	CDH13_uc010vns.1_Missense_Mutation_p.V301I|CDH13_uc010vnt.1_5'UTR|CDH13_uc010vnu.1_Missense_Mutation_p.V215I	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	254	Cadherin 2.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CATCGGCCACGTCATGGAAGG	0.512													A	83378590	G	A	83378590	3	1	94	1	0	0	0	0	1	0	0	0	3099	1145	40	1	782	1	CDH13	16	83378590	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1434346	83378590	6976163	2739	61872											
CDH13	1012	broad.mit.edu	37	chr16	83712050	83712050	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacggaccccgactccctgCagcatcaaaccatcaggtgg	9	17	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:83712050C>T	uc002fgx.2	+	10	1642	c.1522C>T	c.(1522-1524)CAG>TAG	p.Q508*	CDH13_uc010vns.1_Nonsense_Mutation_p.Q555*|CDH13_uc010vnt.1_Nonsense_Mutation_p.Q254*|CDH13_uc010vnu.1_Nonsense_Mutation_p.Q469*	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	508	Cadherin 4.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CGACTCCCTGCAGCATCAAAC	0.602													T	83712050	C	T	83712050	4	4	94	1	0	0	0	0	0	1	0	0	3099	711	25	2	1560	2	CDH13	16	83712050	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	333460	83712050	6642703	2740	61873											
MLYCD	23417	broad.mit.edu	37	chr16	83941844	83941844	+	Frame_Shift_Del	DEL	T	T	-													ccctggggagcccctggtcgTtttgcacgtggcactgactg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:83941843_83941843GT>G	uc002fgz.3	+	2	774	c.754_754GT>G	c.(754-756)gttfs	p.V252fs		NM_012213	NP_036345	O95822	DCMC_HUMAN	Homo sapiens malonyl-CoA decarboxylase (MLYCD), nuclear gene encoding mitochondrial protein, mRNA.	252					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						GCCCCTGGTCGTTTTGCACGT	0.547													-	83941844	T	-	83941844	7	5	94	1	0	1	0	1	0	0	0	0	9638	1725	60	0	765	0	MLYCD	16	83941844	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	229794	83941844	6412909	2741	61874											
SLC38A8	146167	broad.mit.edu	37	chr16	84075680	84075680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgaggatgaagacagcgCccatcgaggacagagtggca	14	9	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:84075680C>T	uc002fhg.1	-	1	83	c.83G>A	c.(82-84)GGC>GAC	p.G28D		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	28					amino acid transport|sodium ion transport	integral to membrane					0						GAAGACAGCGCCCATCGAGGA	0.647													T	84075680	C	T	84075680	3	4	94	1	0	0	0	0	1	0	0	0	14610	739	26	2	1264	2	SLC38A8	16	84075680	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	133836	84075680	6279073	2742	61875											
HSDL1	83693	broad.mit.edu	37	chr16	84163718	84163718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggaccatcaaactagcgGcggcaatgttcacatttatg	9	10	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:84163718G>A	uc002fhk.2	-	4	723	c.539C>T	c.(538-540)GCC>GTC	p.A180V	HSDL1_uc010vnv.1_Missense_Mutation_p.A125V	NM_031463	NP_113651	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1 isoform a	180						mitochondrion	oxidoreductase activity|protein binding				0						CAAACTAGCGGCGGCAATGTT	0.493													A	84163718	G	A	84163718	3	1	94	1	0	0	0	0	1	0	0	0	7393	1203	42	2	465	2	HSDL1	16	84163718	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	88038	84163718	6191035	2743	61876											
ATP2C2	9914	broad.mit.edu	37	chr16	84459366	84459366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatgctcattggctggtcGcaagggaaacaactcctgag	11	10	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:84459366G>A	uc002fhx.2	+	11	1034	c.945G>A	c.(943-945)TCG>TCA	p.S315S	ATP2C2_uc010chj.2_Silent_p.S315S|ATP2C2_uc002fhy.2_Silent_p.S332S|ATP2C2_uc002fhz.2_Silent_p.S164S	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	315	Cytoplasmic (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2						TTGGCTGGTCGCAAGGGAAAC	0.527													A	84459366	G	A	84459366	2	1	94	1	0	0	0	0	0	0	0	1	1144	1074	38	1		1	ATP2C2	16	84459366	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	295648	84459366	5895387	2744	61877											
KLHL36	79786	broad.mit.edu	37	chr16	84691224	84691224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcttcatcgaggaggccGtgcgctaccacaacaacctg	12	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:84691224G>A	uc002fig.2	+	3	952	c.811G>A	c.(811-813)GTG>ATG	p.V271M	KLHL36_uc010chl.2_Missense_Mutation_p.V270M	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	kelch-like 36	271										skin(2)	2						CGAGGAGGCCGTGCGCTACCA	0.682													A	84691224	G	A	84691224	3	1	94	1	0	0	0	0	1	0	0	0	8389	1145	40	1	817	1	KLHL36	16	84691224	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	231858	84691224	5663529	2745	61878											
ZDHHC7	55625	broad.mit.edu	37	chr16	85010045	85010045	+	Frame_Shift_Del	DEL	C	C	-													atccagaggagtgaggggggCcccccaaagacggacttcat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:85010044_85010044GC>G	uc010voi.1	-	8	1296	c.943_943GC>C	c.(943-945)cccfs	p.P315fs	ZDHHC7_uc002fiq.2_Frame_Shift_Del_p.P278fs|ZDHHC7_uc002fir.1_Non-coding_Transcript	NM_001145548	NP_001139020	Q9NXF8	ZDHC7_HUMAN	Homo sapiens zinc finger, DHHC-type containing 7 (ZDHHC7), transcript variant 1, mRNA.	278						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						AGTGAGGGGGGCCCCCCAAAG	0.572													-	85010045	C	-	85010045	7	5	94	1	0	1	0	1	0	0	0	0	17617	726	26	0	99	0	ZDHHC7	16	85010045	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	318821	85010045	5344708	2746	61879											
IRF8	3394	broad.mit.edu	37	chr16	85948113	85948113	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggggtacaccacctacgaCgcgcaccattcaggtacggg	12	14	1	0	rs112843240		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:85948113C>T	uc002fjh.2	+	6	645	c.588C>T	c.(586-588)GAC>GAT	p.D196D	IRF8_uc010chp.2_Intron	NM_002163	NP_002154	Q02556	IRF8_HUMAN	interferon regulatory factor 8	196					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|ovary(1)	3		Prostate(104;0.0771)				CCACCTACGACGCGCACCATT	0.602													T	85948113	C	T	85948113	2	4	94	1	0	0	0	0	0	0	0	1	7836	535	19	1		1	IRF8	16	85948113	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	938068	85948113	4406640	2747	61880											
ZCCHC14	23174	broad.mit.edu	37	chr16	87453429	87453429	+	Frame_Shift_Del	DEL	A	A	-													gggggagaggaagtgctgagAaacctcctgacatggtcatt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:87453428_87453428GA>G	uc002fjz.1	-	5	622	c.595_595TC>C	c.(595-597)ctcfs	p.L199fs	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_5'UTR	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	199					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GAAGTGCTGAGAAACCTCCTG	0.403													-	87453429	A	-	87453429	7	5	94	1	0	1	0	1	0	0	0	0	17580	243	9	0	2287	0	ZCCHC14	16	87453429	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	1505316	87453429	2901324	2748	61881											
BANP	54971	broad.mit.edu	37	chr16	88052119	88052119	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatcccctccgacatgctGcacatcagcaccaactgccg	6	18	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:88052119G>A	uc002fkr.2	+	7	938	c.714G>A	c.(712-714)CTG>CTA	p.L238L	BANP_uc002fkp.2_Silent_p.L208L|BANP_uc002fkq.2_Silent_p.L208L|BANP_uc010vow.1_Silent_p.L246L|BANP_uc002fks.3_Silent_p.L207L|BANP_uc002fko.1_Silent_p.L144L|BANP_uc010vov.1_Silent_p.L213L	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein isoform b	239	Interaction with CUX1 and HDAC1 (By similarity).|BEN.				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CCGACATGCTGCACATCAGCA	0.622													A	88052119	G	A	88052119	2	1	94	1	0	0	0	0	0	0	0	1	1310	1306	46	2		2	BANP	16	88052119	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	598690	88052119	2302634	2749	61882											
SNAI3	333929	broad.mit.edu	37	chr16	88747836	88747836	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggtcggggaccaccgtgtGggcagcaccagcagtggggg	19	10	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:88747836G>T	uc002flj.2	-	2	431	c.363C>A	c.(361-363)CCC>CCA	p.P121P	MGC23284_uc002fli.3_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	snail homolog 3	121					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.048)		ACCACCGTGTGGGCAGCACCA	0.682													T	88747836	G	T	88747836	2	4	94	1	0	0	0	0	0	0	0	1	14828	1335	47	5		5	SNAI3	16	88747836	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	695717	88747836	1606917	2750	61883											
CDH15	1013	broad.mit.edu	37	chr16	89260206	89260206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcacccgacagcgctgaGcctgcctctgggaccgccgc	13	18	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:89260206G>A	uc002fmt.2	+	13	2113	c.2036G>A	c.(2035-2037)AGC>AAC	p.S679N		NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	679	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)		ACAGCGCTGAGCCTGCCTCTG	0.711													A	89260206	G	A	89260206	3	1	94	1	0	0	0	0	1	0	0	0	3100	971	34	2	2086	2	CDH15	16	89260206	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	512370	89260206	1094547	2751	61884											
CENPBD1	92806	broad.mit.edu	37	chr16	90038104	90038104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggcgagtcaaccgagagGctctcagaggagtagctatt	14	8	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:90038104G>A	uc002fpr.2	-	1	839	c.227C>T	c.(226-228)GCC>GTC	p.A76V	AFG3L1_uc002fps.1_5'Flank|AFG3L1_uc002fpt.1_5'Flank|AFG3L1_uc002fpu.1_5'Flank|AFG3L1_uc002fpv.1_5'Flank|AFG3L1_uc002fpw.1_5'Flank|AFG3L1_uc002fpx.1_5'Flank	NM_145039	NP_659476	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	76					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						CAACCGAGAGGCTCTCAGAGG	0.502													A	90038104	G	A	90038104	3	1	94	1	0	0	0	0	1	0	0	0	3228	1203	42	2	340	2	CENPBD1	16	90038104	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	777898	90038104	316649	2752	61885											
PRDM7	11105	broad.mit.edu	37	chr16	90128476	90128476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgatggcccaattctcagCcccgggggcagactgagggc	14	14	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:90128476C>T	uc010cje.2	-	7	755	c.735G>A	c.(733-735)GGG>GGA	p.G245G	PRDM7_uc002fqo.2_Silent_p.G39G|PRDM7_uc010cjf.2_Silent_p.G128G|PRDM7_uc010cjg.1_Silent_p.G39G|PRDM7_uc010cjh.1_RNA	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	PR domain containing 7 isoform 1	245						chromosome|nucleus	nucleic acid binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CAATTCTCAGCCCCGGGGGCA	0.592													T	90128476	C	T	90128476	2	4	94	1	0	0	0	0	0	0	0	1	12461	726	26	2		2	PRDM7	16	90128476	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	90372	90128476	226277	2753	61886											
GEMIN4	50628	broad.mit.edu	37	chr17	651080	651082	+	In_Frame_Del	DEL	TTC	TTC	-													cccagatgatgatcagggctTtcttcttccaggcaaagggc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:651079_651081TTTC>T	uc002frs.1	-	1	321_323	c.202_204GAAA>A	c.(202-204)aaa>A	p.K68del	GEMIN4_uc010vqa.1_In_Frame_Del_p.K68del	NM_015721	NP_056536	P57678	GEMI4_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 4 (GEMIN4), mRNA.	68					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGATCAGGGCTTTCTTCTTCCAG	0.596													-	651082	TTC	-	651080	7	5	94	1	0	1	0	1	0	0	0	0	6330	1841	64	0	2977	0	GEMIN4	17	651080	In_Frame_Del	DEL	TTC	TCGA-BR-8487-01A-11D-2394-08		651080	80544130	2754	61887											
ABR	29	broad.mit.edu	37	chr17	970392	970392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatggtctgggaaggggtgCacctgggggctggcctcaga	18	9	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:970392C>T	uc002fsd.2	-	10	1217	c.1107G>A	c.(1105-1107)GTG>GTA	p.V369V	ABR_uc002fse.2_Silent_p.V323V|ABR_uc010vqg.1_Silent_p.V151V|ABR_uc002fsg.2_Silent_p.V332V|ABR_uc002fsh.1_Silent_p.V253V	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	369	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGAAGGGGTGCACCTGGGGGC	0.567													T	970392	C	T	970392	2	4	94	1	0	0	0	0	0	0	0	1	99	697	25	2		2	ABR	17	970392	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	319312	970392	80224818	2755	61888											
YWHAE	7531	broad.mit.edu	37	chr17	1268159	1268159	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaacaatctcaccatttgCcgatattcccgaatcatttt	3	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:1268159C>T	uc002fsj.2	-	2	410	c.258G>A	c.(256-258)CGG>CGA	p.R86R	YWHAE_uc002fsk.2_Silent_p.R64R|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_RNA	NM_006761	NP_006752	P62258	1433E_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	86					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			lung(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		TCACCATTTGCCGATATTCCC	0.343													T	1268159	C	T	1268159	2	4	94	1	0	0	0	0	0	0	0	1	17499	726	26	2		2	YWHAE	17	1268159	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	297767	1268159	79927051	2756	61889											
MYO1C	4641	broad.mit.edu	37	chr17	1395772	1395772	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggtaccagctccacttGcagcgccattccgccctgcg	12	16	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:1395772G>A	uc002fsp.2	-	1	230	c.10C>T	c.(10-12)CAA>TAA	p.Q4*	MYO1C_uc002fso.2_5'Flank	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	4					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGCTCCACTTGCAGCGCCATT	0.687													A	1395772	G	A	1395772	4	1	94	1	0	0	0	0	0	1	0	0	10070	1328	46	2	3331	2	MYO1C	17	1395772	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	127613	1395772	79799438	2757	61890											
SCARF1	8578	broad.mit.edu	37	chr17	1538678	1538678	+	Frame_Shift_Del	DEL	C	C	-													gccctcaggacccgactgcgCcccccgggagagcctcttgg					rs34681910		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:1538677_1538677GC>G	uc002fsz.1	-	10	1918	c.1868_1868GC>C	c.(1867-1869)gcgfs	p.A623fs	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Frame_Shift_Del_p.A537fs	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	623	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACCCGACTGCGCCCCCCGGGA	0.667													-	1538678	C	-	1538678	7	5	94	1	0	1	0	1	0	0	0	0	13883	739	26	0	629	0	SCARF1	17	1538678	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	142906	1538678	79656532	2758	61891											
MNT	4335	broad.mit.edu	37	chr17	2290445	2290445	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagcccaggtgggccacaTggttgagggtggcagggtgc	21	8	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:2290445T>C	uc002fur.2	-	6	1751	c.1499A>G	c.(1498-1500)CAT>CGT	p.H500R		NM_020310	NP_064706	Q99583	MNT_HUMAN	MAX binding protein	500					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			skin(1)	1				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		GTGGGCCACATGGTTGAGGGT	0.692													C	2290445	T	C	2290445	3	2	94	1	0	0	0	0	1	0	0	0	9678	1464	51	3	253	3	MNT	17	2290445	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	751767	2290445	78904765	2759	61892											
MNT	4335	broad.mit.edu	37	chr17	2290577	2290577	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcccctgcagaacgtggTtcacagtctggatgactgaa	12	11	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:2290577T>C	uc002fur.2	-	6	1619	c.1367A>G	c.(1366-1368)AAC>AGC	p.N456S		NM_020310	NP_064706	Q99583	MNT_HUMAN	MAX binding protein	456					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			skin(1)	1				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CAGAACGTGGTTCACAGTCTG	0.687													C	2290577	T	C	2290577	3	2	94	1	0	0	0	0	1	0	0	0	9678	1725	60	3	385	3	MNT	17	2290577	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	132	2290577	78904633	2760	61893											
METT10D	79066	broad.mit.edu	37	chr17	2324151	2324151	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgccagcaccacgaatgtTatgggttttctcggtttctc	10	11	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:2324151T>G	uc002fut.2	-	9	1084	c.936A>C	c.(934-936)ATA>ATC	p.I312I	METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Intron|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_Silent_p.I94I	NM_024086	NP_076991	Q86W50	MET16_HUMAN	methyltransferase 10 domain containing	312							methyltransferase activity				0						CCACGAATGTTATGGGTTTTC	0.448													G	2324151	T	G	2324151	2	3	94	1	0	0	0	0	0	0	0	1	9490	1744	61	5		5	METT10D	17	2324151	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	33574	2324151	78871059	2761	61894											
OR1D2	4991	broad.mit.edu	37	chr17	2995926	2995926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcagatggccacatagCggtcatatgccatcacagcc	11	13	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:2995926C>T	uc010vrb.1	-	1	365	c.365G>A	c.(364-366)CGC>CAC	p.R122H		NM_002548	NP_002539	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D,	122	Cytoplasmic (Potential).				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GGCCACATAGCGGTCATATGC	0.537													T	2995926	C	T	2995926	3	4	94	1	0	0	0	0	1	0	0	0	10953	768	27	1	576	1	OR1D2	17	2995926	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	671775	2995926	78199284	2762	61895											
OR1G1	8390	broad.mit.edu	37	chr17	3030645	3030645	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaagcaggcatctgcaagGgagaggttggctagaaagaa	14	6	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:3030645G>A	uc002fvc.1	-	1	201	c.201C>T	c.(199-201)TCC>TCT	p.S67S		NM_003555	NP_003546	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CATCTGCAAGGGAGAGGTTGG	0.498													A	3030645	G	A	3030645	2	1	94	1	0	0	0	0	0	0	0	1	10957	1219	43	4		4	OR1G1	17	3030645	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	34719	3030645	78164565	2763	61896											
SPATA22	84690	broad.mit.edu	37	chr17	3349889	3349889	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactgtaactgatacaatgAggtttccttttgaaaaaata	6	5	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:3349889A>G	uc002fvm.2	-	7	916	c.679T>C	c.(679-681)TCA>CCA	p.S227P	SPATA22_uc010vrg.1_Missense_Mutation_p.S211P|SPATA22_uc010vrf.1_Missense_Mutation_p.S227P|SPATA22_uc002fvn.2_Missense_Mutation_p.S227P|SPATA22_uc002fvo.2_Missense_Mutation_p.S227P|SPATA22_uc002fvp.2_Missense_Mutation_p.S227P|SPATA22_uc010ckf.2_Missense_Mutation_p.S184P	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	227											0						TGATACAATGAGGTTTCCTTT	0.289													G	3349889	A	G	3349889	3	3	94	1	0	0	0	0	1	0	0	0	15007	304	11	3	424	3	SPATA22	17	3349889	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	319244	3349889	77845321	2764	61897											
GSG2	83903	broad.mit.edu	37	chr17	3628631	3628631	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggtttatggggaatgcAgtcagaagggtcctgtcccc	13	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:3628631A>G	uc002fwp.2	+	1	1435	c.1402A>G	c.(1402-1404)AGT>GGT	p.S468G	ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	haspin	468					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity				0						TGGGGAATGCAGTCAGAAGGG	0.458													G	3628631	A	G	3628631	3	3	94	1	0	0	0	0	1	0	0	0	6822	188	7	3	1404	3	GSG2	17	3628631	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	278742	3628631	77566579	2765	61898											
GSG2	83903	broad.mit.edu	37	chr17	3628867	3628867	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagagttgagcctcttatcCggtgaagtgtgcaaccgcac	11	10	1	3	rs146710070		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:3628867C>T	uc002fwp.2	+	1	1671	c.1638C>T	c.(1636-1638)TCC>TCT	p.S546S	ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	haspin	546	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity				0						GCCTCTTATCCGGTGAAGTGT	0.488													T	3628867	C	T	3628867	2	4	94	1	0	0	0	0	0	0	0	1	6822	639	23	1		1	GSG2	17	3628867	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	236	3628867	77566343	2766	61899											
ITGAE	3682	broad.mit.edu	37	chr17	3655036	3655036	+	Frame_Shift_Del	DEL	G	G	-													atctgccccaaaaccttccaGgggggccccgatggccacat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:3655035_3655035AG>A	uc002fwo.4	-	14	1901	c.1802_1802CT>T	c.(1801-1803)ctgfs	p.L601fs		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	601					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AAAACCTTCCAGGGGGGCCCC	0.612													-	3655036	G	-	3655036	7	5	94	1	0	1	0	1	0	0	0	0	7885	991	35	0	1806	0	ITGAE	17	3655036	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	26169	3655036	77540174	2767	61900											
ITGAE	3682	broad.mit.edu	37	chr17	3660327	3660327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctcagcagcccatccagCgccatgtagttggtcacctt	9	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:3660327C>T	uc002fwo.3	-	10	1221	c.1122G>A	c.(1120-1122)GCG>GCA	p.A374A		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	374	VWFA.|Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GCCCATCCAGCGCCATGTAGT	0.498													T	3660327	C	T	3660327	2	4	94	1	0	0	0	0	0	0	0	1	7885	755	27	1		1	ITGAE	17	3660327	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	5291	3660327	77534883	2768	61901											
ZZEF1	23140	broad.mit.edu	37	chr17	3937518	3937518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcattcaggtggcctgcGtttgagatgacaacctgaaa	11	8	2	3	rs35511240	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:3937518G>A	uc002fxe.2	-	40	6439	c.6375C>T	c.(6373-6375)AAC>AAT	p.N2125N	ZZEF1_uc002fxh.2_Silent_p.N439N|ZZEF1_uc002fxi.2_Silent_p.N360N|ZZEF1_uc002fxj.1_Silent_p.N738N	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2125							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GGTGGCCTGCGTTTGAGATGA	0.527													A	3937518	G	A	3937518	2	1	94	1	0	0	0	0	0	0	0	1	18252	1136	40	1		1	ZZEF1	17	3937518	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	277191	3937518	77257692	2769	61902											
SPNS2	124976	broad.mit.edu	37	chr17	4436551	4436551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacagcctcatctttgggGccatcacctgctttacggga	9	15	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:4436551G>A	uc002fxx.2	+	8	1316	c.1102G>A	c.(1102-1104)GCC>ACC	p.A368T		NM_001124758	NP_001118230	Q8IVW8	SPNS2_HUMAN	spinster homolog 2	368	Helical; (Potential).				lipid transport|transmembrane transport	integral to membrane					0						CATCTTTGGGGCCATCACCTG	0.667													A	4436551	G	A	4436551	3	1	94	1	0	0	0	0	1	0	0	0	15074	1203	42	2	1132	2	SPNS2	17	4436551	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	499033	4436551	76758659	2770	61903											
SPNS2	124976	broad.mit.edu	37	chr17	4437134	4437134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctaactgggccatcactGcagacatcctcatggtgagc	9	12	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:4437134G>A	uc002fxx.2	+	9	1544	c.1330G>A	c.(1330-1332)GCA>ACA	p.A444T	SPNS2_uc002fxy.2_5'Flank	NM_001124758	NP_001118230	Q8IVW8	SPNS2_HUMAN	spinster homolog 2	444					lipid transport|transmembrane transport	integral to membrane					0						GGCCATCACTGCAGACATCCT	0.627													A	4437134	G	A	4437134	3	1	94	1	0	0	0	0	1	0	0	0	15074	1319	46	2	1364	2	SPNS2	17	4437134	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	583	4437134	76758076	2771	61904											
MINK1	50488	broad.mit.edu	37	chr17	4789868	4789868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccacggagcggcaggtccGcatccagcttaaggaccaca	12	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:4789868G>A	uc010vsl.1	+	10	1092	c.896G>A	c.(895-897)CGC>CAC	p.R299H	MINK1_uc010vsk.1_Missense_Mutation_p.R299H|MINK1_uc010vsm.1_Missense_Mutation_p.R299H|MINK1_uc010vsn.1_Missense_Mutation_p.R299H|MINK1_uc010vso.1_Missense_Mutation_p.R244H|MINK1_uc010vsp.1_5'UTR	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	299					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						CGGCAGGTCCGCATCCAGCTT	0.602													A	4789868	G	A	4789868	3	1	94	1	0	0	0	0	1	0	0	0	9587	1087	38	1	673	1	MINK1	17	4789868	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	352734	4789868	76405342	2772	61905											
ZNF232	7775	broad.mit.edu	37	chr17	5009276	5009276	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctttgactaaaggccttcCcacactcattacactcatag	5	13	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:5009276C>A	uc002gas.2	-	5	1851	c.1097G>T	c.(1096-1098)GGG>GTG	p.G366V	ZNF232_uc002gar.1_Missense_Mutation_p.G384V|ZNF232_uc002gat.2_Missense_Mutation_p.G393V	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	366	C2H2-type 4.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						AAAGGCCTTCCCACACTCATT	0.438													A	5009276	C	A	5009276	3	1	94	1	0	0	0	0	1	0	0	0	17782	623	22	5	160	5	ZNF232	17	5009276	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	219408	5009276	76185934	2773	61906											
KIAA0753	9851	broad.mit.edu	37	chr17	6493207	6493207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgctgtgctgcatacccGgtgggacaaagaggggagct	16	9	0	1	rs112740973		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:6493207G>A	uc002gde.3	-	18	3037	c.2678C>T	c.(2677-2679)CCG>CTG	p.P893L	KIAA0753_uc010vtd.1_Missense_Mutation_p.P349L|KIAA0753_uc010clo.2_Missense_Mutation_p.P594L|KIAA0753_uc010vte.1_Missense_Mutation_p.P594L	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	893						centrosome					0				COAD - Colon adenocarcinoma(228;0.157)		CTGCATACCCGGTGGGACAAA	0.527													A	6493207	G	A	6493207	3	1	94	1	0	0	0	0	1	0	0	0	8191	1116	39	1	233	1	KIAA0753	17	6493207	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1483931	6493207	74702003	2774	61907											
SLC16A11	162515	broad.mit.edu	37	chr17	6945482	6945482	+	Frame_Shift_Del	DEL	C	C	-													cagccgcggccagcaggggaCccccccagctctcttcgccg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:6945482delC	uc002gei.1	-	3	1357	c.1019delG	c.(1018-1020)GGTfs	p.G340fs		NM_153357	NP_699188	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	340	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(1)	1						CAGCAGGGGACCCCCCCAGCT	0.731													-	6945482	C	-	6945482	7	5	94	1	0	1	0	1	0	0	0	0	14404	507	18	0	404	0	SLC16A11	17	6945482	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	452275	6945482	74249728	2775	61908											
SLC2A4	6517	broad.mit.edu	37	chr17	7187346	7187346	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggagattgctcccactcacCtgcggggcgccctggggacg	16	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7187346C>A	uc002gfp.2	+	5	702	c.502C>A	c.(502-504)CTG>ATG	p.L168M	SLC2A4_uc002gfo.2_Missense_Mutation_p.L168M|SLC2A4_uc010cmd.2_RNA	NM_001042	NP_001033	P14672	GTR4_HUMAN	glucose transporter 4	168	Cytoplasmic (Potential).				carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding				0						TCCCACTCACCTGCGGGGCGC	0.632													A	7187346	C	A	7187346	3	1	94	1	0	0	0	0	1	0	0	0	14546	680	24	5	520	5	SLC2A4	17	7187346	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	241864	7187346	74007864	2776	61909											
NEURL4	84461	broad.mit.edu	37	chr17	7226439	7226439	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcttgcatgatggctgtAccactggggggatggcagaa	15	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7226439A>G	uc002gga.1	-	15	2428	c.2421T>C	c.(2419-2421)GGT>GGC	p.G807G	NEURL4_uc002ggb.1_Silent_p.G807G|NEURL4_uc002ggc.1_Silent_p.G153G	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	807	NHR 4.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						TGATGGCTGTACCACTGGGGG	0.567													G	7226439	A	G	7226439	2	3	94	1	0	0	0	0	0	0	0	1	10347	378	14	3		3	NEURL4	17	7226439	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	39093	7226439	73968771	2777	61910											
NEURL4	84461	broad.mit.edu	37	chr17	7227487	7227487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatcgacgacagcatagaCgcccgggggcacgttccagg	15	12	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7227487C>T	uc002gga.1	-	11	2009	c.2002G>A	c.(2002-2004)GTC>ATC	p.V668I	NEURL4_uc002ggb.1_Missense_Mutation_p.V668I|NEURL4_uc002ggc.1_Missense_Mutation_p.V14I	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	668	NHR 3.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						ACAGCATAGACGCCCGGGGGC	0.677											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	7227487	C	T	7227487	3	4	94	1	0	0	0	0	1	0	0	0	10347	536	19	1	2762	1	NEURL4	17	7227487	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1048	7227487	73967723	2778	61911											
AMAC1L3	643664	broad.mit.edu	37	chr17	7386029	7386029	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcctctttgtgctgcaGccccccgtgttgcccagtga	11	16	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7386029G>A	uc010cmj.1	+	2	841	c.726G>A	c.(724-726)CAG>CAA	p.Q242Q	ZBTB4_uc002ghd.3_Intron|POLR2A_uc002ghe.2_5'Flank|POLR2A_uc002ghf.3_5'Flank	NM_001102614	NP_001096084	P0C7Q6	AMCL3_HUMAN	acyl-malonyl condensing enzyme 1-like 3	242						integral to membrane					0		Prostate(122;0.173)				TTGTGCTGCAGCCCCCCGTGT	0.602													A	7386029	G	A	7386029	2	1	94	1	0	0	0	0	0	0	0	1	561	962	34	2		2	AMAC1L3	17	7386029	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	158542	7386029	73809181	2779	61912											
POLR2A	5430	broad.mit.edu	37	chr17	7399666	7399666	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaactgcttgtggactctGtgagtggggaacaggctctg	14	9	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7399666G>A	uc002ghf.3	+	3	597	c.363_splice	c.e3+1	p.S121_splice	POLR2A_uc002ghe.2_Splice_Site_p.S121_splice	NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A						mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)				TGTGGACTCTGTGAGTGGGGA	0.577													A	7399666	G	A	7399666	5	1	94	1	0	0	0	0	0	0	1	0	12214	1391	48	4	374	4	POLR2A	17	7399666	Splice_Site	SNP	G	TCGA-BR-8487-01A-11D-2394-08	13637	7399666	73795544	2780	61913											
SENP3	26168	broad.mit.edu	37	chr17	7468815	7468815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgccaggcaatgccatgGtgaggggcttccgagtggct	17	9	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7468815G>A	uc002ghm.2	+	5	1399	c.1126G>A	c.(1126-1128)GTG>ATG	p.V376M	EIF4A1_uc002gho.1_Translation_Start_Site|SENP3_uc002ghn.1_3'UTR	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific protease 3	376					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			ovary(1)|central_nervous_system(1)	2		Prostate(122;0.157)				CAATGCCATGGTGAGGGGCTT	0.557													A	7468815	G	A	7468815	3	1	94	1	0	0	0	0	1	0	0	0	14048	1261	44	4	1140	4	SENP3	17	7468815	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	69149	7468815	73726395	2781	61914											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	16	11	1	1	rs121912651		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7577539G>A	uc002gim.2	-	7	936	c.742C>T	c.(742-744)CGG>TGG	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7577539	G	A	7577539	3	1	94	1	0	0	0	0	1	0	0	0	16378	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	108724	7577539	73617671	2782	61915											
WRAP53	55135	broad.mit.edu	37	chr17	7605096	7605096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggccgagactgcgaggtccGagccacatttggtaagcatc	13	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7605096G>A	uc010vuh.1	+	7	1099	c.944G>A	c.(943-945)CGA>CAA	p.R315Q	WRAP53_uc010vui.1_Missense_Mutation_p.R315Q|WRAP53_uc002gip.2_Missense_Mutation_p.R315Q|WRAP53_uc002gir.2_Missense_Mutation_p.R315Q|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Missense_Mutation_p.R282Q|WRAP53_uc010vuj.1_Missense_Mutation_p.R96Q	NM_001143990	NP_001137462	Q9BUR4	WAP53_HUMAN	WD repeat domain 79 isoform 2	315					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding				0						TGCGAGGTCCGAGCCACATTT	0.637													A	7605096	G	A	7605096	3	1	94	1	0	0	0	0	1	0	0	0	17397	1058	37	1	966	1	WRAP53	17	7605096	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	27557	7605096	73590114	2783	61916											
DNAH2	146754	broad.mit.edu	37	chr17	7640418	7640418	+	Frame_Shift_Del	DEL	T	T	-													aagcacagtcaaacctgaccTttttgtcaatcctgaaggaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7640418delT	uc002giu.1	+	7	1026	c.1012delT	c.(1012-1014)TTTfs	p.F338fs	DNAH2_uc002git.2_Frame_Shift_Del_p.F338fs|DNAH2_uc010vuk.1_Frame_Shift_Del_p.F338fs	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	338	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AAACCTGACCTTTTTGTCAAT	0.448													-	7640418	T	-	7640418	7	5	94	1	0	1	0	1	0	0	0	0	4602	1609	56	0	1038	0	DNAH2	17	7640418	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	35322	7640418	73554792	2784	61917											
DNAH2	146754	broad.mit.edu	37	chr17	7690337	7690337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcaacggcgagcgcatcGcgatgcccgagcaggtcagg	14	13	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7690337G>A	uc002giu.1	+	41	6603	c.6589G>A	c.(6589-6591)GCG>ACG	p.A2197T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2197	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGAGCGCATCGCGATGCCCGA	0.632													A	7690337	G	A	7690337	3	1	94	1	0	0	0	0	1	0	0	0	4602	1087	38	1	6751	1	DNAH2	17	7690337	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	49919	7690337	73504873	2785	61918											
KDM6B	23135	broad.mit.edu	37	chr17	7749539	7749539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgatagtgaggaggccaCacgctgctaccacagcgccc	12	15	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7749539C>T	uc002giw.1	+	6	756	c.380C>T	c.(379-381)ACA>ATA	p.T127I	KDM6B_uc002gix.2_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	127					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						GAGGAGGCCACACGCTGCTAC	0.642													T	7749539	C	T	7749539	3	4	94	1	0	0	0	0	1	0	0	0	8138	478	17	4	390	4	KDM6B	17	7749539	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	59202	7749539	73445671	2786	61919											
CHD3	1107	broad.mit.edu	37	chr17	7798765	7798765	+	Frame_Shift_Del	DEL	C	C	-													atggaaatccagatgtcccaCccccccgtcctcttcaaggc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7798764_7798764AC>A	uc002gjd.2	+	9	1790	c.1788_1788AC>A	c.(1786-1788)ccafs	p.P596fs	CHD3_uc002gje.2_Frame_Shift_Del_p.P537fs|CHD3_uc002gjf.2_Frame_Shift_Del_p.P537fs|CHD3_uc002gjg.1_Frame_Shift_Del_p.P365fs	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	537					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAGATGTCCCACCCCCCCGTC	0.577													-	7798765	C	-	7798765	7	5	94	1	0	1	0	1	0	0	0	0	3326	507	18	0	1931	0	CHD3	17	7798765	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	49226	7798765	73396445	2787	61920											
CHD3	1107	broad.mit.edu	37	chr17	7802494	7802494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagaccatacaaaccatcGtcttcctctactcactctac	3	16	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7802494G>A	uc002gje.2	+	14	2467	c.2317G>A	c.(2317-2319)GTC>ATC	p.V773I	CHD3_uc002gjd.2_Missense_Mutation_p.V832I|CHD3_uc002gjf.2_Missense_Mutation_p.V773I	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	773	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				ACAAACCATCGTCTTCCTCTA	0.557													A	7802494	G	A	7802494	3	1	94	1	0	0	0	0	1	0	0	0	3326	1145	40	1	2652	1	CHD3	17	7802494	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3729	7802494	73392716	2788	61921											
TRAPPC1	58485	broad.mit.edu	37	chr17	7834329	7834329	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctggggctggcactgacCgcactgtagatgtggtgcag	15	11	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7834329C>T	uc002gjo.1	-	3	425	c.309G>A	c.(307-309)GCG>GCA	p.A103A	KCNAB3_uc002gjm.1_5'Flank|KCNAB3_uc010vul.1_5'Flank|CNTROB_uc002gjp.2_5'Flank|CNTROB_uc002gjq.2_5'Flank	NM_021210	NP_067033	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	103					ER to Golgi vesicle-mediated transport	endoplasmic reticulum					0		Prostate(122;0.173)				TGGCACTGACCGCACTGTAGA	0.547													T	7834329	C	T	7834329	2	4	94	1	0	0	0	0	0	0	0	1	16453	666	23	1		1	TRAPPC1	17	7834329	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	31835	7834329	73360881	2789	61922											
CNTROB	116840	broad.mit.edu	37	chr17	7847812	7847812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactggcccgggagcaagcGcgagtgtgcgaactgcagag	17	10	0	2	rs146493138	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7847812G>A	uc002gjq.2	+	13	2509	c.1590G>A	c.(1588-1590)GCG>GCA	p.A530A	CNTROB_uc002gjp.2_Silent_p.A530A|CNTROB_uc002gjr.2_Silent_p.A432A|CNTROB_uc010vum.1_3'UTR	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	530	Potential.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)				GGGAGCAAGCGCGAGTGTGCG	0.572													A	7847812	G	A	7847812	2	1	94	1	0	0	0	0	0	0	0	1	3651	1074	38	1		1	CNTROB	17	7847812	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	13483	7847812	73347398	2790	61923											
CNTROB	116840	broad.mit.edu	37	chr17	7850958	7850958	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggccattccctgaggaagAtcctggacctgacggggagg	15	10	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7850958A>G	uc002gjq.2	+	15	2982	c.2063A>G	c.(2062-2064)GAT>GGT	p.D688G	CNTROB_uc002gjp.2_Missense_Mutation_p.D688G|CNTROB_uc002gjr.2_Missense_Mutation_p.D590G	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	688	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)				CCTGAGGAAGATCCTGGACCT	0.567													G	7850958	A	G	7850958	3	3	94	1	0	0	0	0	1	0	0	0	3651	333	12	3	2117	3	CNTROB	17	7850958	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	3146	7850958	73344252	2791	61924											
RANGRF	29098	broad.mit.edu	37	chr17	8192722	8192722	+	Frame_Shift_Del	DEL	A	A	-													caagcagcagatagctaaggAaaaccagcaggtgagggccc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:8192722delA	uc002gkv.2	+	3	459	c.341delA	c.(340-342)GAAfs	p.E114fs	SLC25A35_uc002gku.1_3'UTR|SLC25A35_uc002gkt.2_Intron|RANGRF_uc002gkw.2_Frame_Shift_Del_p.E114fs|RANGRF_uc002gky.2_Frame_Shift_Del_p.E114fs|RANGRF_uc002gkx.2_Frame_Shift_Del_p.E114fs|SLC25A35_uc002gkz.1_Intron	NM_016492	NP_057576	Q9HD47	MOG1_HUMAN	RAN guanine nucleotide release factor	114					protein transport	cytoplasm|nucleus	guanyl-nucleotide exchange factor activity				0						ATAGCTAAGGAAAACCAGCAG	0.577													-	8192722	A	-	8192722	7	5	94	1	0	1	0	1	0	0	0	0	13034	246	9	0	351	0	RANGRF	17	8192722	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	341764	8192722	73002488	2792	61925											
SLC25A35	399512	broad.mit.edu	37	chr17	8195898	8195898	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctgtgcctgcaggtgTgtcttcacctgggaacaaga	13	11	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:8195898T>C	uc002gla.3	-	2	429	c.384A>G	c.(382-384)ACA>ACG	p.T128T	SLC25A35_uc002gku.1_Silent_p.T128T|SLC25A35_uc002gkt.2_Silent_p.T128T|SLC25A35_uc002gkz.1_RNA	NM_201520	NP_958928	Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	128	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane					0						CCTGCAGGTGTGTCTTCACCT	0.532													C	8195898	T	C	8195898	2	2	94	1	0	0	0	0	0	0	0	1	14499	1683	59	3		3	SLC25A35	17	8195898	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	3176	8195898	72999312	2793	61926											
ARHGEF15	22899	broad.mit.edu	37	chr17	8224298	8224299	+	Frame_Shift_Ins	INS	-	-	C													tcttcaggcacccccaatgcINSccccccaccctaatgcaggc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:8224297_8224298G>GC	uc002glc.3	+	15	2667_2668	c.2512_2513G>GC	c.(2512-2514)gccfs	p.A838fs	ARHGEF15_uc002gld.3_Frame_Shift_Ins_p.A838fs|ARHGEF15_uc010vuw.2_Frame_Shift_Ins_p.A727fs	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	838					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CACCCCCAATGCCCCCCCACCC	0.574													C	8224299	-	C	8224298	7	5	94	1	0	1	1	0	0	0	0	0	898	739	26	0	2571	0	ARHGEF15	17	8224298	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	28400	8224298	72970912	2794	61927											
MYH10	4628	broad.mit.edu	37	chr17	8445466	8445466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatggctgcagatccagccCgaaatcgatgaagttccact	10	12	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:8445466C>T	uc002gll.2	-	13	1630	c.1534G>A	c.(1534-1536)GGG>AGG	p.G512R	MYH10_uc002glm.2_Missense_Mutation_p.G522R|MYH10_uc010cnx.2_Missense_Mutation_p.G521R	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	512	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						AGATCCAGCCCGAAATCGATG	0.488													T	8445466	C	T	8445466	3	4	94	1	0	0	0	0	1	0	0	0	10030	652	23	1	4512	1	MYH10	17	8445466	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	221168	8445466	72749744	2795	61928											
MYH10	4628	broad.mit.edu	37	chr17	8449960	8449960	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catcacattcatcccaagaaGatggcagagcttctgcgcaa	8	12	3	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:8449960G>A	uc002gll.2	-	11	1246	c.1150C>T	c.(1150-1152)CTT>TTT	p.L384F	MYH10_uc002glm.2_Missense_Mutation_p.L394F|MYH10_uc010cnx.2_Missense_Mutation_p.L393F	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	384	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						ATCCCAAGAAGATGGCAGAGC	0.428													A	8449960	G	A	8449960	3	1	94	1	0	0	0	0	1	0	0	0	10030	942	33	4	4904	4	MYH10	17	8449960	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4494	8449960	72745250	2796	61929											
CCDC42	146849	broad.mit.edu	37	chr17	8633476	8633476	+	Frame_Shift_Del	DEL	T	T	-													ggactcgctgttgttccttcTttttcacctctgcccagatg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:8633476delT	uc002gln.2	-	7	1150	c.923delA	c.(922-924)AAGfs	p.K308fs	CCDC42_uc002glo.2_Frame_Shift_Del_p.K234fs	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42 isoform 1	308										ovary(1)	1						TTGTTCCTTCTTTTTCACCTC	0.542													-	8633476	T	-	8633476	7	5	94	1	0	1	0	1	0	0	0	0	2814	1609	56	0	31	0	CCDC42	17	8633476	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	183516	8633476	72561734	2797	61930											
STX8	9482	broad.mit.edu	37	chr17	9408353	9408353	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactcctcaggatatttagtAccttggataattttctgctg	7	9	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:9408353A>G	uc002glx.2	-	5	598	c.448_splice	c.e5+1	p.E150_splice		NM_004853	NP_004844	Q9UNK0	STX8_HUMAN	syntaxin 8						transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)	1						GATATTTAGTACCTTGGATAA	0.363													G	9408353	A	G	9408353	5	3	94	1	0	0	0	0	0	0	1	0	15350	405	14	3	276	3	STX8	17	9408353	Splice_Site	SNP	A	TCGA-BR-8487-01A-11D-2394-08	774877	9408353	71786857	2798	61931											
MYH2	4620	broad.mit.edu	37	chr17	10447416	10447416	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagcataaaatctacttaCgtgatcaggattgactgatt	8	6	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:10447416C>T	uc010coi.2	-	6	661	c.533_splice	c.e6+1	p.T178_splice	uc002gml.1_Intron|MYH2_uc002gmp.3_Splice_Site_p.T178_splice|MYH2_uc010coj.2_Splice_Site_p.T178_splice	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa						muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						AATCTACTTACGTGATCAGGA	0.343													T	10447416	C	T	10447416	5	4	94	1	0	0	0	0	0	0	1	0	10035	550	19	1	5431	1	MYH2	17	10447416	Splice_Site	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1039063	10447416	70747794	2799	61932											
MYH3	4621	broad.mit.edu	37	chr17	10549312	10549312	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctccccctggctaatgaaCgggtagtcgtaagggttggt	13	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:10549312C>T	uc002gmq.1	-	10	1013	c.936G>A	c.(934-936)CCG>CCA	p.P312P		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	312	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						GGCTAATGAACGGGTAGTCGT	0.507											OREG0024181	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	10549312	C	T	10549312	2	4	94	1	0	0	0	0	0	0	0	1	10036	523	19	1		1	MYH3	17	10549312	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	101896	10549312	70645898	2800	61933											
DNAH9	1770	broad.mit.edu	37	chr17	11520831	11520831	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgaagccccagctgcgGcccctgctccacgtggtctg	14	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:11520831G>A	uc002gne.2	+	5	1076	c.1008G>A	c.(1006-1008)CGG>CGA	p.R336R		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	336	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCAGCTGCGGCCCCTGCTCC	0.592													A	11520831	G	A	11520831	2	1	94	1	0	0	0	0	0	0	0	1	4608	1190	42	2		2	DNAH9	17	11520831	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	971519	11520831	69674379	2801	61934											
DNAH9	1770	broad.mit.edu	37	chr17	11784614	11784614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctaatcctcactaccagCctgagctgcaggctcaggcc	10	15	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:11784614C>T	uc002gne.2	+	55	10758	c.10690C>T	c.(10690-10692)CCT>TCT	p.P3564S	DNAH9_uc010coo.2_Missense_Mutation_p.P2858S|DNAH9_uc002gnf.2_5'Flank	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3564	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCACTACCAGCCTGAGCTGCA	0.527													T	11784614	C	T	11784614	3	4	94	1	0	0	0	0	1	0	0	0	4608	739	26	2	10908	2	DNAH9	17	11784614	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	263783	11784614	69410596	2802	61935											
ELAC2	60528	broad.mit.edu	37	chr17	12896274	12896274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctcccgcttctccctgCgctcctccatctcctcgatg	7	20	2	0	rs119484086	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:12896274C>T	uc002gnz.3	-	24	2437	c.2342G>A	c.(2341-2343)CGC>CAC	p.R781H	ELAC2_uc002gnu.3_Missense_Mutation_p.R178H|ELAC2_uc002gnv.3_Missense_Mutation_p.R409H|ELAC2_uc002gnw.3_Missense_Mutation_p.R437H|ELAC2_uc002gnx.3_Missense_Mutation_p.R541H|ELAC2_uc010vvo.1_Missense_Mutation_p.R579H|ELAC2_uc010vvp.1_Missense_Mutation_p.R762H|ELAC2_uc010vvq.1_Missense_Mutation_p.R780H|ELAC2_uc010vvr.1_Missense_Mutation_p.R741H	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	elaC homolog 2 isoform 1	781			R -> H (in CaP; in one family with high frequency of CaP; does not affect the enzymatic activity).		tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding				0						CTTCTCCCTGCGCTCCTCCAT	0.637									Hereditary_Prostate_Cancer				T	12896274	C	T	12896274	3	4	94	1	0	0	0	0	1	0	0	0	5047	768	27	1	142	1	ELAC2	17	12896274	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1111660	12896274	68298936	2803	61936											
FAM18B2	201158	broad.mit.edu	37	chr17	15457117	15457117	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcactgactcgaaagaatAagtggaaaaacgatgctact	9	7	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:15457117A>G	uc002goq.2	-	3	305	c.122T>C	c.(121-123)TTA>TCA	p.L41S	CDRT4_uc010vvw.1_Intron|FAM18B2_uc010vvx.1_Missense_Mutation_p.L41S|FAM18B2_uc010cor.2_Missense_Mutation_p.L41S	NM_145301	NP_660344	Q96ET8	F18B2_HUMAN	hypothetical protein LOC201158 isoform 1	41						integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0872)|BRCA - Breast invasive adenocarcinoma(8;0.0581)|READ - Rectum adenocarcinoma(1115;0.0967)		TCGAAAGAATAAGTGGAAAAA	0.368													G	15457117	A	G	15457117	3	3	94	1	0	0	0	0	1	0	0	0	5520	372	13	3	878	3	FAM18B2	17	15457117	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	2560843	15457117	65738093	2804	61937											
CDRT1	374286	broad.mit.edu	37	chr17	15522783	15522783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcggttcccttctcacaaCgaaaatagggggcattcttg	9	10	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:15522783C>T	uc002gov.3	-	1	236	c.44G>A	c.(43-45)CGT>CAT	p.R15H	TRIM16_uc002gor.1_Intron	NM_006382	NP_006373	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	15											0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		CTTCTCACAACGAAAATAGGG	0.498													T	15522783	C	T	15522783	3	4	94	1	0	0	0	0	1	0	0	0	3174	536	19	1	2262	1	CDRT1	17	15522783	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	65666	15522783	65672427	2805	61938											
NCOR1	9611	broad.mit.edu	37	chr17	16024450	16024450	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctgcagcttcgtttgTcatggacctggtgatccggc	14	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:16024450T>C	uc002gpo.2	-	16	2008	c.1768A>G	c.(1768-1770)ACA>GCA	p.T590A	NCOR1_uc002gpn.2_Missense_Mutation_p.T590A|NCOR1_uc002gpp.1_Missense_Mutation_p.T481A|NCOR1_uc002gpr.2_Missense_Mutation_p.T481A	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	590					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCTTCGTTTGTCATGGACCTG	0.602													C	16024450	T	C	16024450	3	2	94	1	0	0	0	0	1	0	0	0	10235	1667	58	3	5678	3	NCOR1	17	16024450	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	501667	16024450	65170760	2806	61939											
ZNF624	57547	broad.mit.edu	37	chr17	16526942	16526942	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctaaaggctttcccacaatCatcacatttgtagggtttct	6	11	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:16526942C>T	uc010cpi.1	-	6	1341	c.1258G>A	c.(1258-1260)GAT>AAT	p.D420N		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	420	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTCCCACAATCATCACATTTG	0.398													T	16526942	C	T	16526942	3	4	94	1	0	0	0	0	1	0	0	0	18045	826	29	4	1343	4	ZNF624	17	16526942	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	502492	16526942	64668268	2807	61940											
TNFRSF13B	23495	broad.mit.edu	37	chr17	16843700	16843700	+	Frame_Shift_Del	DEL	C	C	-													gggctggcaggagcagggatCccccctcttcttgaggaagc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:16843700delC	uc002gqs.1	-	4	584	c.571delG	c.(571-573)GATfs	p.D191fs	TNFRSF13B_uc010vwt.1_RNA|TNFRSF13B_uc002gqt.1_Frame_Shift_Del_p.D145fs	NM_012452	NP_036584	O14836	TR13B_HUMAN	tumor necrosis factor receptor 13B	191	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			kidney(2)	2						GAGCAGGGATCCCCCCTCTTC	0.647									IgA_Deficiency_Selective				-	16843700	C	-	16843700	7	5	94	1	0	1	0	1	0	0	0	0	16284	855	30	0	318	0	TNFRSF13B	17	16843700	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	316758	16843700	64351510	2808	61941											
PLD6	201164	broad.mit.edu	37	chr17	17109597	17109597	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacctgccaactcaaccgtcCcatgccgccgctaatccggg	8	19	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:17109597C>A	uc002gqz.2	-	1	36	c.4G>T	c.(4-6)GGA>TGA	p.G2*	PLD6_uc010cpn.2_Intron	NM_178836	NP_849158	Q8N2A8	PLD6_HUMAN	phospholipase D6	2	Mitochondrial intermembrane (Potential).				DNA methylation involved in gamete generation|lipid catabolic process|meiosis|mitochondrial fusion|P granule organization|piRNA metabolic process|spermatid development	integral to membrane|mitochondrial outer membrane	cardiolipin hydrolase activity|protein homodimerization activity				0						CTCAACCGTCCCATGCCGCCG	0.726													A	17109597	C	A	17109597	4	1	94	1	0	0	0	0	0	1	0	0	12050	632	22	5	762	5	PLD6	17	17109597	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	265897	17109597	64085613	2809	61942											
NT5M	56953	broad.mit.edu	37	chr17	17250190	17250191	+	Frame_Shift_Ins	INS	-	-	C													ccagcacctgcagctgcagcINSccccccgccgcaggctgcac							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:17250189_17250190G>GC	uc002grf.3	+	4	800_801	c.615_616G>GC	c.(613-618)cagcccfs	p.Q205fs	NT5M_uc002grg.3_Frame_Shift_Ins_p.Q211fs	NM_020201	NP_064586	Q9NPB1	NT5M_HUMAN	Homo sapiens 5',3'-nucleotidase, mitochondrial (NT5M), nuclear gene encoding mitochondrial protein, mRNA.	205					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding	p.L204P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TGCAGCTGCAGCCCCCCCGCCG	0.673													C	17250191	-	C	17250190	7	5	94	1	0	1	1	0	0	0	0	0	10694	739	26	0	634	0	NT5M	17	17250190	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	140593	17250190	63945020	2810	61943											
RAI1	10743	broad.mit.edu	37	chr17	17700540	17700540	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctactgactgtttcaaaacCgaggccttcacatccccgga	7	14	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:17700540C>T	uc002grm.2	+	3	4747	c.4278C>T	c.(4276-4278)ACC>ACT	p.T1426T	RAI1_uc002grn.1_Silent_p.T1426T	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1426						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GTTTCAAAACCGAGGCCTTCA	0.557													T	17700540	C	T	17700540	2	4	94	1	0	0	0	0	0	0	0	1	13007	639	23	1		1	RAI1	17	17700540	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	450350	17700540	63494670	2811	61944											
MYO15A	51168	broad.mit.edu	37	chr17	18023437	18023437	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaggaaccagaggacgcGggcgtagagcgtcaggggac	19	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:18023437G>A	uc010vxh.1	+	2	1661	c.1323G>A	c.(1321-1323)GCG>GCA	p.A441A		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	441	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CAGAGGACGCGGGCGTAGAGC	0.657													A	18023437	G	A	18023437	2	1	94	1	0	0	0	0	0	0	0	1	10063	1103	39	1		1	MYO15A	17	18023437	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	322897	18023437	63171773	2812	61945											
LLGL1	3996	broad.mit.edu	37	chr17	18136088	18136088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcactcagtttccagctgCccagccggcccggctttgat	10	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:18136088C>T	uc002gsp.2	+	4	425	c.364C>T	c.(364-366)CCC>TCC	p.P122S		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	122					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)					TTTCCAGCTGCCCAGCCGGCC	0.622													T	18136088	C	T	18136088	3	4	94	1	0	0	0	0	1	0	0	0	8833	739	26	2	378	2	LLGL1	17	18136088	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	112651	18136088	63059122	2813	61946											
FLII	2314	broad.mit.edu	37	chr17	18154644	18154644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcctccaccagcacagGcacgaagttctctatctgcc	8	16	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:18154644G>A	uc002gsr.1	-	13	1582	c.1531C>T	c.(1531-1533)CCT>TCT	p.P511S	FLII_uc002gsq.1_Missense_Mutation_p.P382S|FLII_uc010cpy.1_Missense_Mutation_p.P500S|FLII_uc010vxn.1_Missense_Mutation_p.P480S|FLII_uc010vxo.1_Missense_Mutation_p.P456S|FLII_uc002gss.1_Missense_Mutation_p.P510S	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	511	Interaction with ACTL6A.|Gelsolin-like 1.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)					ACCAGCACAGGCACGAAGTTC	0.607													A	18154644	G	A	18154644	3	1	94	1	0	0	0	0	1	0	0	0	5925	1203	42	2	2350	2	FLII	17	18154644	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	18556	18154644	63040566	2814	61947											
TOP3A	7156	broad.mit.edu	37	chr17	18211732	18211732	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgaagtcattaccatggTaacattctgaatgatgacaa	7	7	2	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:18211732T>C	uc002gsx.1	-	3	476	c.247A>G	c.(247-249)ACC>GCC	p.T83A	TOP3A_uc002gsw.1_5'Flank|TOP3A_uc010vxs.1_Intron|TOP3A_uc010cqa.1_Intron	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	83	Toprim.				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3						ATTACCATGGTAACATTCTGA	0.353													C	18211732	T	C	18211732	3	2	94	1	0	0	0	0	1	0	0	0	16364	1638	57	3	2826	3	TOP3A	17	18211732	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	57088	18211732	62983478	2815	61948											
EPN2	22905	broad.mit.edu	37	chr17	19186555	19186555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtccagttctctgatgacCgagattgccgacctgaccta	9	14	1	4	rs115073761	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:19186555C>T	uc002gvd.3	+	3	571	c.123C>T	c.(121-123)ACC>ACT	p.T41T	EPN2_uc002gvc.2_Silent_p.T41T|EPN2_uc010vyn.1_Silent_p.T41T|EPN2_uc010cql.1_Intron|EPN2_uc002gve.3_Silent_p.T41T|EPN2_uc002gvf.3_Intron|EPN2_uc010vyo.1_Intron|EPN2_uc002gvg.1_Silent_p.T41T|EPN2_uc010vyp.1_Silent_p.T41T|EPN2_uc010vyq.1_Silent_p.T41T|EPN2_uc002gvh.1_Silent_p.T41T	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	41	ENTH.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CTCTGATGACCGAGATTGCCG	0.542													T	19186555	C	T	19186555	2	4	94	1	0	0	0	0	0	0	0	1	5186	639	23	1		1	EPN2	17	19186555	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	974823	19186555	62008655	2816	61949											
KCNJ12	3768	broad.mit.edu	37	chr17	21319358	21319358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgcgcagctcatcaagcCgcgggtcaccgaggagggcg	17	14	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:21319358C>T	uc002gyv.1	+	3	1409	c.704C>T	c.(703-705)CCG>CTG	p.P235L		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	235	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	CTCATCAAGCCGCGGGTCACC	0.637										Prostate(3;0.18)			T	21319358	C	T	21319358	3	4	94	1	0	0	0	0	1	0	0	0	8046	652	23	1	706	1	KCNJ12	17	21319358	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2132803	21319358	59875852	2817	61950											
WSB1	26118	broad.mit.edu	37	chr17	25639361	25639361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaggagctgccgattccttCcaagcttttggagtttctct	9	11	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:25639361C>T	uc002gzd.1	+	9	1548	c.1232C>T	c.(1231-1233)TCC>TTC	p.S411F	WSB1_uc002gze.1_Missense_Mutation_p.S265F|WSB1_uc002gzf.1_RNA	NM_015626	NP_056441	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box-containing 1 isoform 1	411	SOCS box.				intracellular signal transduction	intracellular	protein binding				0	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CCGATTCCTTCCAAGCTTTTG	0.478													T	25639361	C	T	25639361	3	4	94	1	0	0	0	0	1	0	0	0	17401	855	30	4	1266	4	WSB1	17	25639361	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4320003	25639361	55555849	2818	61951											
FOXN1	8456	broad.mit.edu	37	chr17	26851000	26851000	+	Frame_Shift_Del	DEL	C	C	-													actgggtgatggtgtcgctaCccccgccgcagtctgacgtc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:26850999_26850999AC>A	uc010crm.3	+	1	210	c.12_12AC>A	c.(10-12)ctafs	p.L4fs	FOXN1_uc002hbj.3_Frame_Shift_Del_p.L4fs	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	4					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TGGTGTCGCTACCCCCGCCGC	0.677													-	26851000	C	-	26851000	7	5	94	1	0	1	0	1	0	0	0	0	6019	507	18	0	15	0	FOXN1	17	26851000	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	1211639	26851000	54344210	2819	61952											
PIGS	94005	broad.mit.edu	37	chr17	26888587	26888587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccaatgatgttaaaggcctCccggtgcattatcccccgca	9	14	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:26888587C>T	uc002hbo.2	-	6	902	c.529G>A	c.(529-531)GAG>AAG	p.E177K	PIGS_uc002hbn.2_Missense_Mutation_p.E169K|PIGS_uc010wap.1_Missense_Mutation_p.E116K	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	177	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(2)|urinary_tract(1)|kidney(1)	4	Lung NSC(42;0.00431)					TTAAAGGCCTCCCGGTGCATT	0.577													T	26888587	C	T	26888587	3	4	94	1	0	0	0	0	1	0	0	0	11898	864	30	4	1166	4	PIGS	17	26888587	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	37587	26888587	54306623	2820	61953											
SUPT6H	6830	broad.mit.edu	37	chr17	27001380	27001380	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttatcaatgacgatgatgaTgaagatgaaggggaggagga	15	2	1	6			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:27001380T>A	uc002hby.2	+	3	279	c.189T>A	c.(187-189)GAT>GAA	p.D63E	SUPT6H_uc010crt.2_Missense_Mutation_p.D63E	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	63	Asp/Glu-rich.			DDDEDEGEEDEGS -> ATAPGHPKLSEGR (in Ref. 1; AAC50821).	chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					ACGATGATGATGAAGATGAAG	0.473													A	27001380	T	A	27001380	3	1	94	1	0	0	0	0	1	0	0	0	15397	1461	51	5	195	5	SUPT6H	17	27001380	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	112793	27001380	54193830	2821	61954											
SUPT6H	6830	broad.mit.edu	37	chr17	27005589	27005589	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttattgccttctatcgaaaGgagtatgtggagcctgagtt	11	6	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:27005589G>T	uc002hby.2	+	10	1233	c.1143G>T	c.(1141-1143)AAG>AAT	p.K381N	SUPT6H_uc010crt.2_Missense_Mutation_p.K381N	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	381					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					TCTATCGAAAGGAGTATGTGG	0.483													T	27005589	G	T	27005589	3	4	94	1	0	0	0	0	1	0	0	0	15397	991	35	5	1177	5	SUPT6H	17	27005589	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4209	27005589	54189621	2822	61955											
RAB34	83871	broad.mit.edu	37	chr17	27041919	27041919	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattctcggacattctcacCtgacacagagagcagatagg	10	10	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:27041919C>T	uc002hce.2	-	9	1229	c.605_splice	c.e9-1	p.G202_splice	RAB34_uc002hcg.2_Splice_Site_p.G194_splice|RAB34_uc002hcf.2_Splice_Site_p.G203_splice|RAB34_uc010was.1_Splice_Site_p.G259_splice|RAB34_uc010wat.1_Splice_Site_p.G251_splice|RAB34_uc002hch.2_Splice_Site_p.G202_splice|RAB34_uc010wau.1_Splice_Site_p.G180_splice|RAB34_uc010wav.1_Intron	NM_031934	NP_114140	Q9BZG1	RAB34_HUMAN	Ras-related protein RAB34 isoform 1						protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding				0	Lung NSC(42;0.00431)					ACATTCTCACCTGACACAGAG	0.582													T	27041919	C	T	27041919	5	4	94	1	0	0	0	0	0	0	1	0	12924	695	24	4	247	4	RAB34	17	27041919	Splice_Site	SNP	C	TCGA-BR-8487-01A-11D-2394-08	36330	27041919	54153291	2823	61956											
TLCD1	116238	broad.mit.edu	37	chr17	27051740	27051740	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcggaagagaaagtacaTgaccaggttcacatacttgt	11	8	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:27051740T>C	uc002hco.2	-	4	647	c.532A>G	c.(532-534)ATG>GTG	p.M178V	TLCD1_uc010waw.1_Missense_Mutation_p.M131V	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN	TLC domain containing 1 isoform 1	178	TLC.|Helical; (Potential).					integral to membrane					0	Lung NSC(42;0.00431)					AGAAAGTACATGACCAGGTTC	0.507													C	27051740	T	C	27051740	3	2	94	1	0	0	0	0	1	0	0	0	15934	1464	51	3	215	3	TLCD1	17	27051740	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	9821	27051740	54143470	2824	61957											
PHF12	57649	broad.mit.edu	37	chr17	27233509	27233509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcctcctcacttggctcttCgtcctgtttctggtgccggc	10	15	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:27233509C>T	uc002hdg.1	-	15	3237	c.2707G>A	c.(2707-2709)GAA>AAA	p.E903K	PHF12_uc010wbb.1_Missense_Mutation_p.E885K	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	903					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CTTGGCTCTTCGTCCTGTTTC	0.612													T	27233509	C	T	27233509	3	4	94	1	0	0	0	0	1	0	0	0	11823	893	31	1	311	1	PHF12	17	27233509	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	181769	27233509	53961701	2825	61958											
PIPOX	51268	broad.mit.edu	37	chr17	27371936	27371936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccggataatccgaaaggcGtacctggaagacttttacac	10	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:27371936G>A	uc002hdr.1	+	2	500	c.174G>A	c.(172-174)GCG>GCA	p.A58A		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	58					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity				0	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TCCGAAAGGCGTACCTGGAAG	0.527													A	27371936	G	A	27371936	2	1	94	1	0	0	0	0	0	0	0	1	11943	1132	40	1		1	PIPOX	17	27371936	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	138427	27371936	53823274	2826	61959											
CORO6	84940	broad.mit.edu	37	chr17	27942982	27942982	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgacaagggggcgtcgctgGccgactggctgcggcggggg	21	12	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:27942982G>C	uc002hel.2	-	9	1276	c.1274C>G	c.(1273-1275)GCC>GGC	p.A425G	CORO6_uc002hem.2_Missense_Mutation_p.A191G|CORO6_uc002hen.2_Missense_Mutation_p.A191G	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	425					actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0						GGCGTCGCTGGCCGACTGGCT	0.692													C	27942982	G	C	27942982	3	2	94	1	0	0	0	0	1	0	0	0	3758	1203	42	5	152	5	CORO6	17	27942982	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	571046	27942982	53252228	2827	61960											
CORO6	84940	broad.mit.edu	37	chr17	27943832	27943832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcacgaaaggcggctcgtCggtaatctcaaagtaccgaa	12	10	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:27943832C>T	uc002hel.2	-	7	894	c.892G>A	c.(892-894)GAC>AAC	p.D298N	CORO6_uc002hem.2_Missense_Mutation_p.D64N|CORO6_uc002hen.2_Missense_Mutation_p.D64N	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	298	WD 5.				actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0						GGCGGCTCGTCGGTAATCTCA	0.587													T	27943832	C	T	27943832	3	4	94	1	0	0	0	0	1	0	0	0	3758	884	31	1	542	1	CORO6	17	27943832	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	850	27943832	53251378	2828	61961											
CORO6	84940	broad.mit.edu	37	chr17	27948260	27948260	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accttggccagaggcaggacGatgaaggcacccccgcctcc	12	16	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:27948260G>A	uc002hel.2	-	1	182	c.180C>T	c.(178-180)ATC>ATT	p.I60I		NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	60					actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0						GAGGCAGGACGATGAAGGCAC	0.582													A	27948260	G	A	27948260	2	1	94	1	0	0	0	0	0	0	0	1	3758	1048	37	1		1	CORO6	17	27948260	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4428	27948260	53246950	2829	61962											
EFCAB5	374786	broad.mit.edu	37	chr17	28417587	28417587	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaaaataggatgttgttgTgtcaagaatataaagatcta	9	4	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:28417587T>C	uc002het.2	+	20	4024	c.3832T>C	c.(3832-3834)TGT>CGT	p.C1278R	EFCAB5_uc010cse.2_Missense_Mutation_p.C1033R|EFCAB5_uc010csf.2_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	1278							calcium ion binding			ovary(1)|skin(1)	2						GATGTTGTTGTGTCAAGAATA	0.408													C	28417587	T	C	28417587	3	2	94	1	0	0	0	0	1	0	0	0	4938	1696	59	3	4077	3	EFCAB5	17	28417587	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	469327	28417587	52777623	2830	61963											
CPD	1362	broad.mit.edu	37	chr17	28772928	28772930	+	In_Frame_Del	DEL	CTC	CTC	-													ttggaaagcctcatgttacgCtcctcctcaaatctggctct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:28772928_28772930delCTC	uc002hfb.1	+	12	2778_2780	c.2763_2765delCTC	c.(2761-2766)CGCTCC>CGC	p.S924del	CPD_uc010wbo.1_In_Frame_Del_p.S677del|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	924	Extracellular (Potential).|Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						TCATGTTACGCTCCTCCTCAAAT	0.404													-	28772930	CTC	-	28772928	7	5	94	1	0	1	0	1	0	0	0	0	3798	784	28	0	2809	0	CPD	17	28772928	In_Frame_Del	DEL	CTC	TCGA-BR-8487-01A-11D-2394-08	355341	28772928	52422282	2831	61964											
TBC1D29	26083	broad.mit.edu	37	chr17	28886746	28886746	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagaccatggggcatctggTgagtttatggtcccctcggc	13	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:28886746T>C	uc002hfh.2	+	1	161	c.12_splice	c.e1+2	p.L4_splice	TBC1D29_uc002hfi.2_Splice_Site	NM_015594	NP_056409	Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29							intracellular	Rab GTPase activator activity				0		Myeloproliferative disorder(56;0.0255)				GGGCATCTGGTGAGTTTATGG	0.622													C	28886746	T	C	28886746	5	2	94	1	0	0	0	0	0	0	1	0	15615	1710	59	3	16	3	TBC1D29	17	28886746	Splice_Site	SNP	T	TCGA-BR-8487-01A-11D-2394-08	113818	28886746	52308464	2832	61965											
LRRC37B	114659	broad.mit.edu	37	chr17	30348616	30348616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggccctagttcagcttcctCgcctcaagtgggttcaaact	9	13	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:30348616C>T	uc002hgu.2	+	1	462	c.451C>T	c.(451-453)CGC>TGC	p.R151C	LRRC37B_uc010wbx.1_Missense_Mutation_p.R69C|LRRC37B_uc010csu.2_Missense_Mutation_p.R151C	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	151	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TCAGCTTCCTCGCCTCAAGTG	0.498													T	30348616	C	T	30348616	3	4	94	1	0	0	0	0	1	0	0	0	8994	884	31	1	453	1	LRRC37B	17	30348616	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1461870	30348616	50846594	2833	61966											
CDK5R1	8851	broad.mit.edu	37	chr17	30815228	30815228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaccagggcttcatcaCgccggccaacgtggtcttcc	12	15	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:30815228C>T	uc002hhn.2	+	2	811	c.590C>T	c.(589-591)ACG>ATG	p.T197M	CDK5R1_uc010wca.1_Missense_Mutation_p.T197M|CDK5R1_uc010ctc.2_Intron	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1	197					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			GGCTTCATCACGCCGGCCAAC	0.652													T	30815228	C	T	30815228	3	4	94	1	0	0	0	0	1	0	0	0	3143	536	19	1	592	1	CDK5R1	17	30815228	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	466612	30815228	50379982	2834	61967											
LIG3	3980	broad.mit.edu	37	chr17	33326360	33326360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttcctcatgggctgctaCgaccctggcagccagaagtg	11	13	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:33326360C>T	uc002hik.1	+	15	2256	c.2148C>T	c.(2146-2148)TAC>TAT	p.Y716Y	LIG3_uc002hij.2_Silent_p.Y716Y	NM_013975	NP_039269	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent isoform alpha	716					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9		Ovarian(249;0.17)			Bleomycin(DB00290)	TGGGCTGCTACGACCCTGGCA	0.582								Other_BER_factors					T	33326360	C	T	33326360	2	4	94	1	0	0	0	0	0	0	0	1	8782	547	19	1		1	LIG3	17	33326360	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2511132	33326360	47868850	2835	61968											
UNC45B	146862	broad.mit.edu	37	chr17	33479993	33479993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacagtgaggctgataagCgggaaaaggtgagtgctggc	16	5	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:33479993C>T	uc002hja.2	+	5	560	c.463C>T	c.(463-465)CGG>TGG	p.R155W	UNC45B_uc002hjb.2_Missense_Mutation_p.R155W|UNC45B_uc002hjc.2_Missense_Mutation_p.R155W|UNC45B_uc010cto.2_Missense_Mutation_p.R155W	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	155					cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)				GGCTGATAAGCGGGAAAAGGT	0.577													T	33479993	C	T	33479993	3	4	94	1	0	0	0	0	1	0	0	0	16986	759	27	1	477	1	UNC45B	17	33479993	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	153633	33479993	47715217	2836	61969											
SLFN12	55106	broad.mit.edu	37	chr17	33749493	33749494	+	Frame_Shift_Ins	INS	-	-	A													gatcaagttctgttctatcaINSaaaaaaaccccggccaaggc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:33749492_33749493C>CA	uc002hji.4	-	1	932_933	c.555_556G>TG	c.(553-558)tttgatfs	p.F185fs	SLFN12_uc002hjj.4_Frame_Shift_Ins_p.F185fs|SLFN12_uc010cts.3_Frame_Shift_Ins_p.F185fs	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	185							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTGTTCTATCAAAAAAAACCC	0.366													A	33749494	-	A	33749493	7	5	94	1	0	1	1	0	0	0	0	0	14734	127	5	0	1193	0	SLFN12	17	33749493	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	269500	33749493	47445717	2837	61970											
CCL5	6352	broad.mit.edu	37	chr17	34207248	34207248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttacatggggaggcagatGcaggagcgcagagggcagta	17	7	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:34207248G>A	uc002hkf.2	-	1	130	c.62C>T	c.(61-63)GCA>GTA	p.A21V		NM_002985	NP_002976	P13501	CCL5_HUMAN	small inducible cytokine A5 precursor	21					activation of phospholipase D activity|cell-cell signaling|cellular protein complex assembly|chemokine-mediated signaling pathway|dendritic cell chemotaxis|eosinophil chemotaxis|immune response|leukocyte cell-cell adhesion|macrophage chemotaxis|negative regulation of T cell apoptosis|negative regulation of viral genome replication|neutrophil activation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of homotypic cell-cell adhesion|positive regulation of innate immune response|positive regulation of macrophage chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of T cell apoptosis|positive regulation of T cell chemotaxis|positive regulation of T cell proliferation|positive regulation of translational initiation|positive regulation of tyrosine phosphorylation of STAT protein|positive regulation of viral genome replication|protein tetramerization|regulation of chronic inflammatory response|response to virus	extracellular space	CCR1 chemokine receptor binding|CCR4 chemokine receptor binding|CCR5 chemokine receptor binding|chemoattractant activity|chemokine activity|chemokine receptor antagonist activity|protein homodimerization activity|protein self-association|receptor signaling protein tyrosine kinase activator activity				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0183)		GGAGGCAGATGCAGGAGCGCA	0.597													A	34207248	G	A	34207248	3	1	94	1	0	0	0	0	1	0	0	0	2905	1319	46	2	225	2	CCL5	17	34207248	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	457755	34207248	46987962	2838	61971											
ACACA	31	broad.mit.edu	37	chr17	35578667	35578667	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttggatgagatgtgggcaGcatgaactggaattccacca	13	7	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:35578667G>A	uc002hnm.2	-	29	3741	c.3550C>T	c.(3550-3552)CTG>TTG	p.L1184L	ACACA_uc002hnk.2_Silent_p.L1106L|ACACA_uc002hnl.2_Silent_p.L1126L|ACACA_uc002hnn.2_Silent_p.L1184L|ACACA_uc002hno.2_Silent_p.L1221L|ACACA_uc010cuz.2_Silent_p.L1184L	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1184					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GATGTGGGCAGCATGAACTGG	0.483													A	35578667	G	A	35578667	2	1	94	1	0	0	0	0	0	0	0	1	106	962	34	2		2	ACACA	17	35578667	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1371419	35578667	45616543	2839	61972											
SYNRG	11276	broad.mit.edu	37	chr17	35899332	35899332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatctctgccattcatatgCatatctctcattttcctgtg	5	12	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:35899332C>T	uc002hoa.2	-	17	3465	c.3382G>A	c.(3382-3384)GCA>ACA	p.A1128T	SYNRG_uc010wde.1_Missense_Mutation_p.A1050T|SYNRG_uc010wdf.1_Missense_Mutation_p.A1050T|SYNRG_uc002hoc.2_Missense_Mutation_p.A1049T|SYNRG_uc002hoe.2_Missense_Mutation_p.A1050T|SYNRG_uc002hod.2_Missense_Mutation_p.A1005T|SYNRG_uc010wdg.1_Missense_Mutation_p.A922T|SYNRG_uc002hob.2_Missense_Mutation_p.A1128T	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	1128					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						CATTCATATGCATATCTCTCA	0.413													T	35899332	C	T	35899332	3	4	94	1	0	0	0	0	1	0	0	0	15457	710	25	2	659	2	SYNRG	17	35899332	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	320665	35899332	45295878	2840	61973											
SYNRG	11276	broad.mit.edu	37	chr17	35902100	35902100	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaggtcaaaggttgccAgctcacttttgatcatttct	8	9	4	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:35902100A>T	uc002hoa.2	-	15	3259	c.3176T>A	c.(3175-3177)CTG>CAG	p.L1059Q	SYNRG_uc010wde.1_Missense_Mutation_p.L981Q|SYNRG_uc010wdf.1_Missense_Mutation_p.L981Q|SYNRG_uc002hoc.2_Missense_Mutation_p.L980Q|SYNRG_uc002hoe.2_Missense_Mutation_p.L981Q|SYNRG_uc002hod.2_Missense_Mutation_p.L936Q|SYNRG_uc010wdg.1_Missense_Mutation_p.L853Q|SYNRG_uc002hob.2_Missense_Mutation_p.L1059Q|SYNRG_uc002hof.2_Missense_Mutation_p.L725Q	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	1059					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						AAAGGTTGCCAGCTCACTTTT	0.358													T	35902100	A	T	35902100	3	4	94	1	0	0	0	0	1	0	0	0	15457	188	7	5	873	5	SYNRG	17	35902100	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	2768	35902100	45293110	2841	61974											
GPR179	440435	broad.mit.edu	37	chr17	36492878	36492878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttgttccggcggcagcGgtaggagaccagcatgctca	14	12	1	1	rs147753316	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:36492878G>A	uc002hpz.2	-	4	1231	c.1210C>T	c.(1210-1212)CGC>TGC	p.R404C		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	404	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CGGCGGCAGCGGTAGGAGACC	0.597													A	36492878	G	A	36492878	3	1	94	1	0	0	0	0	1	0	0	0	6674	1116	39	1	5925	1	GPR179	17	36492878	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	590778	36492878	44702332	2842	61975											
SRCIN1	80725	broad.mit.edu	37	chr17	36707421	36707421	+	Frame_Shift_Del	DEL	G	G	-													cctcccactgggctccgttcGgggggctgccttctggccgt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:36707421delG	uc002hqd.2	-	15	3157	c.2932delC	c.(2932-2934)CGAfs	p.R978fs	SRCIN1_uc002hqf.1_Frame_Shift_Del_p.R850fs|SRCIN1_uc002hqe.2_Frame_Shift_Del_p.R832fs	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	850	Pro-rich.			R -> K (in Ref. 6; AA sequence).	exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						GGCTCCGTTCGGGGGGCTGCC	0.687													-	36707421	G	-	36707421	7	5	94	1	0	1	0	1	0	0	0	0	15135	1124	39	0	639	0	SRCIN1	17	36707421	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	214543	36707421	44487789	2843	61976											
PIP4K2B	8396	broad.mit.edu	37	chr17	36926744	36926744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctttgtatcgtatggcGtgaggatatcaatgatggcc	11	7	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:36926744G>A	uc002hqs.2	-	9	1596	c.1115C>T	c.(1114-1116)ACG>ATG	p.T372M	PIP4K2B_uc010cvp.2_5'Flank	NM_003559	NP_003550	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	372	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			ovary(1)	1						ATCGTATGGCGTGAGGATATC	0.547													A	36926744	G	A	36926744	3	1	94	1	0	0	0	0	1	0	0	0	11937	1145	40	1	143	1	PIP4K2B	17	36926744	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	219323	36926744	44268466	2844	61977											
ERBB2	2064	broad.mit.edu	37	chr17	37873670	37873670	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgacctctcctacatgcCcatctggaagtttccagatg	7	14	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:37873670C>A	uc002hso.2	+	15	2073	c.1835C>A	c.(1834-1836)CCC>CAC	p.P612H	ERBB2_uc002hsm.2_Missense_Mutation_p.P582H|ERBB2_uc010cwa.2_Missense_Mutation_p.P597H|ERBB2_uc002hsp.2_Missense_Mutation_p.P415H|ERBB2_uc010cwb.2_Missense_Mutation_p.P612H|ERBB2_uc010wek.1_Missense_Mutation_p.P336H|ERBB2_uc002hsl.2_Missense_Mutation_p.P582H	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	612	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TCCTACATGCCCATCTGGAAG	0.592		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			A	37873670	C	A	37873670	3	1	94	1	0	0	0	0	1	0	0	0	5206	623	22	5	1893	5	ERBB2	17	37873670	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	946926	37873670	43321540	2845	61978											
IKZF3	22806	broad.mit.edu	37	chr17	37922200	37922200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagtccaggaagaggacgCggcagtggtcacaccgatac	13	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:37922200C>T	uc002hsu.2	-	8	1435	c.1373G>A	c.(1372-1374)CGC>CAC	p.R458H	IKZF3_uc002htd.2_Missense_Mutation_p.R424H|IKZF3_uc010cwd.2_Missense_Mutation_p.R315H|IKZF3_uc002hsv.2_Missense_Mutation_p.R385H|IKZF3_uc010cwe.2_Missense_Mutation_p.R324H|IKZF3_uc010cwf.2_Missense_Mutation_p.R276H|IKZF3_uc010cwg.2_Missense_Mutation_p.R237H|IKZF3_uc002hsw.2_Missense_Mutation_p.R419H|IKZF3_uc002hsx.2_Missense_Mutation_p.R402H|IKZF3_uc002hsy.2_Missense_Mutation_p.R419H|IKZF3_uc002hsz.2_Missense_Mutation_p.R363H|IKZF3_uc002hta.2_Missense_Mutation_p.R380H|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.R371H|IKZF3_uc002htc.2_Missense_Mutation_p.R211H|IKZF3_uc010wel.1_Missense_Mutation_p.R211H	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	458	C2H2-type 5.				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GAAGAGGACGCGGCAGTGGTC	0.537													T	37922200	C	T	37922200	3	4	94	1	0	0	0	0	1	0	0	0	7616	768	27	1	160	1	IKZF3	17	37922200	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	48530	37922200	43273010	2846	61979											
IKZF3	22806	broad.mit.edu	37	chr17	37949116	37949116	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atttcaggctcttctgcattTcccatgggttctgactttaa	7	10	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:37949116T>A	uc002hsu.2	-	4	296	c.234A>T	c.(232-234)GGA>GGT	p.G78G	IKZF3_uc002htd.2_Silent_p.G44G|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Silent_p.G44G|IKZF3_uc010cwe.2_Silent_p.G78G|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Silent_p.G78G|IKZF3_uc002hsx.2_Silent_p.G78G|IKZF3_uc002hsy.2_Silent_p.G78G|IKZF3_uc002hsz.2_Silent_p.G78G|IKZF3_uc002hta.2_Silent_p.G78G|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Intron|IKZF3_uc002htc.2_5'UTR	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	78					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTTCTGCATTTCCCATGGGTT	0.353													A	37949116	T	A	37949116	2	1	94	1	0	0	0	0	0	0	0	1	7616	1770	62	5		5	IKZF3	17	37949116	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	26916	37949116	43246094	2847	61980											
GSDMB	55876	broad.mit.edu	37	chr17	38062399	38062399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccgaatatcctccttgcCgaggcacttagcgagggagt	12	12	0	0	rs141827116	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:38062399C>T	uc010cwj.2	-	7	858	c.853G>A	c.(853-855)GGC>AGC	p.G285S	GSDMB_uc010cwi.2_Missense_Mutation_p.G32S|GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_RNA|GSDMB_uc002htg.2_Missense_Mutation_p.G263S|GSDMB_uc002hth.2_Missense_Mutation_p.G272S|GSDMB_uc010wem.1_Missense_Mutation_p.G276S	NM_001042471	NP_001035936	Q8TAX9	GSDMB_HUMAN	gasdermin B isoform 1	280						cytoplasm				breast(1)|pancreas(1)	2						TCCTCCTTGCCGAGGCACTTA	0.517													T	38062399	C	T	38062399	3	4	94	1	0	0	0	0	1	0	0	0	6817	652	23	1	413	1	GSDMB	17	38062399	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	113283	38062399	43132811	2848	61981											
MED24	9862	broad.mit.edu	37	chr17	38182445	38182446	+	Frame_Shift_Del	DEL	AG	AG	-													gcagggtgttctcactaaacAgtggccctgccagctggcgg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:38182445_38182446delAG	uc002htt.2	-	19	2261_2262	c.1948_1949delCT	c.(1948-1950)CTGfs	p.L650fs	MED24_uc010wer.1_5'Flank|MED24_uc010wes.1_Frame_Shift_Del_p.L510fs|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Frame_Shift_Del_p.L675fs|MED24_uc002htu.2_Frame_Shift_Del_p.L637fs|MED24_uc010cwn.2_Frame_Shift_Del_p.L637fs|MED24_uc010weu.1_Frame_Shift_Del_p.L560fs|MED24_uc010wev.1_Frame_Shift_Del_p.L600fs|MED24_uc010wew.1_Frame_Shift_Del_p.L591fs|SNORD124_uc010wey.1_5'Flank	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	650					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)					CTCACTAAACAGTGGCCCTGCC	0.569													-	38182446	AG	-	38182445	7	5	94	1	0	1	0	1	0	0	0	0	9442	188	7	0	1052	0	MED24	17	38182445	Frame_Shift_Del	DEL	AG	TCGA-BR-8487-01A-11D-2394-08	120046	38182445	43012765	2849	61982											
RAPGEFL1	51195	broad.mit.edu	37	chr17	38345469	38345469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccgtccagtcttctgccGtgtatacatgcctgaccact	7	14	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:38345469G>A	uc010cwu.1	+	6	828	c.338G>A	c.(337-339)CGT>CAT	p.R113H	RAPGEFL1_uc010wfd.1_Missense_Mutation_p.R49H	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor	319					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GTCTTCTGCCGTGTATACATG	0.527													A	38345469	G	A	38345469	3	1	94	1	0	0	0	0	1	0	0	0	13049	1145	40	1	352	1	RAPGEFL1	17	38345469	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	163024	38345469	42849741	2850	61983											
KRT23	25984	broad.mit.edu	37	chr17	39092691	39092692	+	Frame_Shift_Ins	INS	-	-	G													cagaaccccaagaccctccaINSgggggtgggcagctccgcgt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:39092691_39092692insG	uc002hvm.1	-	2	753_754	c.164_165insC	c.(163-165)CCTfs	p.P55fs	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Frame_Shift_Ins_p.P55fs|KRT23_uc002hvn.1_Frame_Shift_Ins_p.P55fs	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	55	Head.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)				AAGACCCTCCAGGGGGTGGGCA	0.673													G	39092692	-	G	39092691	7	5	94	1	0	1	1	0	0	0	0	0	8460	175	7	0	1135	0	KRT23	17	39092691	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	747222	39092691	42102519	2851	61984	294	2									
KRT23	25984	broad.mit.edu	37	chr17	39092692	39092693	+	Frame_Shift_Ins	INS	-	-	G													agaaccccaagaccctccagINSggggtgggcagctccgcgtg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:39092691_39092692A>AG	uc002hvm.1	-	1	753_754	c.164_165T>CT	c.(163-165)cctfs	p.P55fs	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.3_Frame_Shift_Ins_p.P55fs|KRT23_uc002hvn.1_Frame_Shift_Ins_p.P55fs	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.	55	Head.					intermediate filament	structural molecule activity	p.P54L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				AAGACCCTCCAGGGGGTGGGCA	0.673													G	39092693	-	G	39092692	7	5	94	1	0	1	1	0	0	0	0	0	8460	1000	35	0	1136	0	KRT23	17	39092692	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	39092692	42102518	2852	61985	294	2									
KRT34	3885	broad.mit.edu	37	chr17	39535281	39535281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcacgcacgtccagcaGcacctggtactcctggttct	11	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:39535281G>A	uc002hwm.2	-	6	1162	c.1150C>T	c.(1150-1152)CTG>TTG	p.L384L		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	384	Rod.|Coil 2.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)				ACGTCCAGCAGCACCTGGTAC	0.602													A	39535281	G	A	39535281	2	1	94	1	0	0	0	0	0	0	0	1	8471	962	34	2		2	KRT34	17	39535281	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	442589	39535281	41659929	2853	61986											
KRT35	3886	broad.mit.edu	37	chr17	39634622	39634622	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggggctcaccatgctgtgCtgagcctgcagctcaatctc	11	13	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:39634622C>T	uc002hws.2	-	5	1033	c.990G>A	c.(988-990)CAG>CAA	p.Q330Q		NM_002280	NP_002271	Q92764	KRT35_HUMAN	keratin 35	330	Rod.|Coil 2.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			ovary(1)|skin(1)	2		Breast(137;0.000286)				CCATGCTGTGCTGAGCCTGCA	0.617													T	39634622	C	T	39634622	2	4	94	1	0	0	0	0	0	0	0	1	8472	796	28	2		2	KRT35	17	39634622	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	99341	39634622	41560588	2854	61987											
KRT9	3857	broad.mit.edu	37	chr17	39727639	39727639	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaatagtgttataataaggGgagtagttcttctggatagc	11	4	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:39727639G>T	uc002hxe.3	-	1	672	c.606C>A	c.(604-606)TCC>TCA	p.S202S	JUP_uc010wfs.1_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	keratin 9	202	Rod.|Linker 1.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Breast(137;0.000307)				TATAATAAGGGGAGTAGTTCT	0.443													T	39727639	G	T	39727639	2	4	94	1	0	0	0	0	0	0	0	1	8501	1219	43	5		5	KRT9	17	39727639	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	93017	39727639	41467571	2855	61988											
KRT14	3861	broad.mit.edu	37	chr17	39743060	39743060	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccttcatggagctggaggaGgtgaactggcggctgcaggt	17	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:39743060G>T	uc002hxf.1	-	1	88	c.27C>A	c.(25-27)ACC>ACA	p.T9T	JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Silent_p.T9T	NM_000526	NP_000517	P02533	K1C14_HUMAN	keratin 14	9	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.000307)				AGCTGGAGGAGGTGAACTGGC	0.547													T	39743060	G	T	39743060	2	4	94	1	0	0	0	0	0	0	0	1	8451	987	35	5		5	KRT14	17	39743060	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	15421	39743060	41452150	2856	61989											
JUP	3728	broad.mit.edu	37	chr17	39925369	39925369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggtacgcacgacagcggCcaccagctggggcgagccca	14	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:39925369C>T	uc002hxq.2	-	4	836	c.559G>A	c.(559-561)GCC>ACC	p.A187T	JUP_uc010wfs.1_Missense_Mutation_p.A187T|JUP_uc002hxr.2_Missense_Mutation_p.A187T|JUP_uc002hxs.2_Missense_Mutation_p.A187T	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	187					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		ACGACAGCGGCCACCAGCTGG	0.662													T	39925369	C	T	39925369	3	4	94	1	0	0	0	0	1	0	0	0	7972	739	26	2	1722	2	JUP	17	39925369	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	182309	39925369	41269841	2857	61990											
JUP	3728	broad.mit.edu	37	chr17	39925702	39925702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgagcagtttggtgagctCgggcagggcgcgagtggcca	19	8	0	2	rs146581757		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:39925702C>T	uc002hxq.2	-	3	713	c.436G>A	c.(436-438)GAG>AAG	p.E146K	JUP_uc010wfs.1_Missense_Mutation_p.E146K|JUP_uc002hxr.2_Missense_Mutation_p.E146K|JUP_uc002hxs.2_Missense_Mutation_p.E146K	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	146	ARM 1.				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TTGGTGAGCTCGGGCAGGGCG	0.657													T	39925702	C	T	39925702	3	4	94	1	0	0	0	0	1	0	0	0	7972	893	31	1	1849	1	JUP	17	39925702	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	333	39925702	41269508	2858	61991											
FKBP10	60681	broad.mit.edu	37	chr17	39975559	39975560	+	Frame_Shift_Ins	INS	-	-	C													agctagagacgctggagctcINSccccccggctgtgtccgcag					rs137853883		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:39975558_39975559T>TC	uc002hxv.2	+	4	1149_1150	c.824_825T>TC	c.(823-825)ctcfs	p.L275fs	FKBP10_uc002hxw.1_5'UTR	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	275					protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		ACGCTGGAGCTCCCCCCCGGCT	0.634													C	39975560	-	C	39975559	7	5	94	1	0	1	1	0	0	0	0	0	5902	842	30	0	843	0	FKBP10	17	39975559	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	49857	39975559	41219651	2859	61992											
KLHL10	317719	broad.mit.edu	37	chr17	39998199	39998199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaccgtgcctatcacaccgGacaatgtggagaaactgctt	11	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:39998199G>A	uc010cxr.2	+	2	461	c.319G>A	c.(319-321)GAC>AAC	p.D107N	KLHL10_uc010wfv.1_Missense_Mutation_p.D101N|KLHL10_uc010wfw.1_Missense_Mutation_p.D19N	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	107						cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)				TATCACACCGGACAATGTGGA	0.483													A	39998199	G	A	39998199	3	1	94	1	0	0	0	0	1	0	0	0	8366	1174	41	4	325	4	KLHL10	17	39998199	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	22640	39998199	41197011	2860	61993											
KCNH4	23415	broad.mit.edu	37	chr17	40312113	40312113	+	Frame_Shift_Del	DEL	G	G	-													gcctcaagaggcttggggttGggggtgaggcctctggcact							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:40312113delG	uc002hzb.2	-	16	3332	c.2999delC	c.(2998-3000)CCAfs	p.P1000fs		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	1000	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCTTGGGGTTGGGGGTGAGGC	0.652													-	40312113	G	-	40312113	7	5	94	1	0	1	0	1	0	0	0	0	8034	1348	47	0	58	0	KCNH4	17	40312113	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	313914	40312113	40883097	2861	61994											
STAT5B	6777	broad.mit.edu	37	chr17	40370236	40370237	+	Frame_Shift_Ins	INS	-	-	G													atgatggtggccttcacctgINSgggggggttcatgtgcacgt					rs144993426		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:40370235_40370236T>TG	uc002hzh.3	-	8	1271_1272	c.1102_1103A>CA	c.(1102-1104)cagfs	p.Q368fs	STAT5B_uc002hzi.3_Frame_Shift_Ins_p.Q368fs	NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	368					2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GGCCTTCACCTGGGGGGGGTTC	0.574													G	40370237	-	G	40370236	7	5	94	1	0	1	1	0	0	0	0	0	15268	1357	47	0	1305	0	STAT5B	17	40370236	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	58123	40370236	40824974	2862	61995											
STAT5B	6777	broad.mit.edu	37	chr17	40375477	40375477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttttttaactcattctctGtgtcctgcgtgaccagtcgc	8	12	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:40375477G>A	uc002hzh.2	-	5	642	c.473C>T	c.(472-474)ACA>ATA	p.T158I	STAT5B_uc002hzi.3_Missense_Mutation_p.T158I	NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	158					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)|skin(1)	6		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CTCATTCTCTGTGTCCTGCGT	0.542													A	40375477	G	A	40375477	3	1	94	1	0	0	0	0	1	0	0	0	15268	1377	48	4	1950	4	STAT5B	17	40375477	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	5241	40375477	40819733	2863	61996											
FAM134C	162427	broad.mit.edu	37	chr17	40735516	40735516	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctcccacactcaagatacCtgaggacagaaggcagcaag	10	12	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:40735516C>A	uc002ial.2	-	7	913	c.810G>T	c.(808-810)CAG>CAT	p.Q270H	FAM134C_uc010wgq.1_Missense_Mutation_p.Q70H|FAM134C_uc002iam.1_Missense_Mutation_p.Q70H|FAM134C_uc010cyk.1_Missense_Mutation_p.Q173H	NM_178126	NP_835227	Q86VR2	F134C_HUMAN	hypothetical protein LOC162427	270						integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		CTCAAGATACCTGAGGACAGA	0.517													A	40735516	C	A	40735516	3	1	94	1	0	0	0	0	1	0	0	0	5447	695	24	5	602	5	FAM134C	17	40735516	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	360039	40735516	40459694	2864	61997											
PLEKHH3	79990	broad.mit.edu	37	chr17	40825491	40825491	+	Frame_Shift_Del	DEL	C	C	-													gatcacttcccgcaatgccaCcccccagcgctcagcctctg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:40825491delC	uc002iau.2	-	5	1041	c.574delG	c.(574-576)GTGfs	p.V192fs	PLEKHH3_uc010cyl.1_5'Flank|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Frame_Shift_Del_p.V192fs	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H	192	PH.				signal transduction	cytoskeleton				large_intestine(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CGCAATGCCACCCCCCAGCGC	0.632													-	40825491	C	-	40825491	7	5	94	1	0	1	0	1	0	0	0	0	12078	507	18	0	1843	0	PLEKHH3	17	40825491	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	89975	40825491	40369719	2865	61998											
WNK4	65266	broad.mit.edu	37	chr17	40947844	40947844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctggctgagagcgaccGtgcagctgagggtctggggg	19	9	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:40947844G>A	uc002ibj.2	+	16	3245	c.3224G>A	c.(3223-3225)CGT>CAT	p.R1075H	WNK4_uc010wgx.1_Missense_Mutation_p.R739H|CCDC56_uc010wgz.1_Silent_p.H138H	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1075					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GAGAGCGACCGTGCAGCTGAG	0.617													A	40947844	G	A	40947844	3	1	94	1	0	0	0	0	1	0	0	0	17377	1145	40	1	3286	1	WNK4	17	40947844	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	122353	40947844	40247366	2866	61999											
AOC3	8639	broad.mit.edu	37	chr17	41004852	41004852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgggctacatcagctcgGcattcctctttggtgctact	9	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:41004852G>A	uc002ibv.2	+	1	1652	c.1492G>A	c.(1492-1494)GCA>ACA	p.A498T		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	498	Extracellular (Potential).				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			central_nervous_system(2)|ovary(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CATCAGCTCGGCATTCCTCTT	0.547													A	41004852	G	A	41004852	3	1	94	1	0	0	0	0	1	0	0	0	728	1203	42	2	1494	2	AOC3	17	41004852	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	57008	41004852	40190358	2867	62000											
AOC3	8639	broad.mit.edu	37	chr17	41006589	41006589	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagatggaggagcaggcCgccttcctcgtgggaagcgc	17	11	0	1	rs146596949	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:41006589C>T	uc002ibv.2	+	2	1885	c.1725C>T	c.(1723-1725)GCC>GCT	p.A575A		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	575	Extracellular (Potential).				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			central_nervous_system(2)|ovary(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AGGAGCAGGCCGCCTTCCTCG	0.642													T	41006589	C	T	41006589	2	4	94	1	0	0	0	0	0	0	0	1	728	639	23	1		1	AOC3	17	41006589	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1737	41006589	40188621	2868	62001											
MPP3	4356	broad.mit.edu	37	chr17	41891581	41891581	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccgatcagaaccaccagGcggggccgctctccgggctg	13	16	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:41891581G>A	uc002iei.3	-	15	1324	c.1158C>T	c.(1156-1158)CGC>CGT	p.R386R	MPP3_uc002ieh.2_Silent_p.R411R|MPP3_uc002iej.2_RNA	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	386	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GAACCACCAGGCGGGGCCGCT	0.627													A	41891581	G	A	41891581	2	1	94	1	0	0	0	0	0	0	0	1	9735	1190	42	2		2	MPP3	17	41891581	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	884992	41891581	39303629	2869	62002											
MPP3	4356	broad.mit.edu	37	chr17	41907096	41907096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctcatcgatattgtcagGcagaggcgggagaacggggt	15	8	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:41907096G>A	uc002iei.3	-	7	533	c.367C>T	c.(367-369)CCT>TCT	p.P123S	MPP3_uc002ieh.2_Missense_Mutation_p.P148S|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Missense_Mutation_p.P123S|MPP3_uc010wik.1_Missense_Mutation_p.P148S|MPP3_uc010czj.1_3'UTR	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	123					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		ATATTGTCAGGCAGAGGCGGG	0.557													A	41907096	G	A	41907096	3	1	94	1	0	0	0	0	1	0	0	0	9735	1203	42	2	1446	2	MPP3	17	41907096	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	15515	41907096	39288114	2870	62003											
HDAC5	10014	broad.mit.edu	37	chr17	42161219	42161219	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catacatcttctggctgatgGggcctgcatggaagaggaat	13	8	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:42161219G>T	uc002ifd.1	-	17	2520	c.2309C>A	c.(2308-2310)CCC>CAC	p.P770H	HDAC5_uc002ife.1_Missense_Mutation_p.P770H|HDAC5_uc002iff.1_Missense_Mutation_p.P771H|HDAC5_uc010czp.1_Missense_Mutation_p.P685H|HDAC5_uc002ifg.1_Missense_Mutation_p.P80H|HDAC5_uc002ifh.2_Missense_Mutation_p.P770H	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	770	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CTGGCTGATGGGGCCTGCATG	0.428													T	42161219	G	T	42161219	3	4	94	1	0	0	0	0	1	0	0	0	7010	1232	43	5	1103	5	HDAC5	17	42161219	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	254123	42161219	39033991	2871	62004											
HDAC5	10014	broad.mit.edu	37	chr17	42162397	42162397	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggctcccttacctcgcacTtgctaagcaggcctgtctcc	10	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:42162397T>G	uc002ifd.1	-	15	2388	c.2177A>C	c.(2176-2178)AAG>ACG	p.K726T	HDAC5_uc002ife.1_Missense_Mutation_p.K726T|HDAC5_uc002iff.1_Missense_Mutation_p.K727T|HDAC5_uc010czp.1_Intron|HDAC5_uc002ifg.1_Missense_Mutation_p.K36T|HDAC5_uc002ifh.2_Missense_Mutation_p.K726T	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	726	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TACCTCGCACTTGCTAAGCAG	0.552													G	42162397	T	G	42162397	3	3	94	1	0	0	0	0	1	0	0	0	7010	1609	56	5	1243	5	HDAC5	17	42162397	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1178	42162397	39032813	2872	62005											
HDAC5	10014	broad.mit.edu	37	chr17	42165014	42165014	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcagctcctcctctgtctcCtcagggtgggtggtgggctg	15	12	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:42165014C>A	uc002ifd.1	-	13	1861	c.1650G>T	c.(1648-1650)GAG>GAT	p.E550D	HDAC5_uc002ife.1_Missense_Mutation_p.E550D|HDAC5_uc002iff.1_Missense_Mutation_p.E551D|HDAC5_uc010czp.1_Missense_Mutation_p.E550D|HDAC5_uc002ifg.1_5'Flank|HDAC5_uc002ifh.2_Missense_Mutation_p.E550D	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	550					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CCTCTGTCTCCTCAGGGTGGG	0.632													A	42165014	C	A	42165014	3	1	94	1	0	0	0	0	1	0	0	0	7010	680	24	5	1778	5	HDAC5	17	42165014	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2617	42165014	39030196	2873	62006											
UBTF	7343	broad.mit.edu	37	chr17	42290299	42290299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattctggattaggtcggggTgatcctccctagccaggaca	12	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:42290299T>C	uc002igb.2	-	6	615	c.548A>G	c.(547-549)CAC>CGC	p.H183R	UBTF_uc002igc.2_Missense_Mutation_p.H183R|UBTF_uc010czs.2_Missense_Mutation_p.H183R|UBTF_uc002igd.2_Missense_Mutation_p.H183R|UBTF_uc010czt.2_Missense_Mutation_p.H183R|UBTF_uc002ige.2_Missense_Mutation_p.H183R	NM_014233	NP_055048	P17480	UBF1_HUMAN	upstream binding transcription factor, RNA	183					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TAGGTCGGGGTGATCCTCCCT	0.587													C	42290299	T	C	42290299	3	2	94	1	0	0	0	0	1	0	0	0	16906	1696	59	3	1806	3	UBTF	17	42290299	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	125285	42290299	38904911	2874	62007											
SLC4A1	6521	broad.mit.edu	37	chr17	42328618	42328618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagggcagggccagggagGccggcgtggacttcaccacc	17	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:42328618G>A	uc002igf.3	-	19	2713	c.2564C>T	c.(2563-2565)GCC>GTC	p.A855V		NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	855	Helical; (Potential).|Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGCCAGGGAGGCCGGCGTGGA	0.642													A	42328618	G	A	42328618	3	1	94	1	0	0	0	0	1	0	0	0	14650	1203	42	2	179	2	SLC4A1	17	42328618	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	38319	42328618	38866592	2875	62008											
ITGA2B	3674	broad.mit.edu	37	chr17	42453457	42453457	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaggctccccaatacctcaTaggtgtgctccactttgggt	10	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:42453457T>C	uc002igt.1	-	24	2476	c.2444A>G	c.(2443-2445)TAT>TGT	p.Y815C	ITGA2B_uc002igu.1_Missense_Mutation_p.Y296C	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	815	Extracellular (Potential).				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CAATACCTCATAGGTGTGCTC	0.627											OREG0024460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	42453457	T	C	42453457	3	2	94	1	0	0	0	0	1	0	0	0	7876	1406	49	3	703	3	ITGA2B	17	42453457	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	124839	42453457	38741753	2876	62009											
DBF4B	80174	broad.mit.edu	37	chr17	42818725	42818725	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtttcgtcctttccatcaTcagtttaaatcctttcctga	4	11	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:42818725T>C	uc002ihf.2	+	10	948	c.735T>C	c.(733-735)CAT>CAC	p.H245H	DBF4B_uc010wjb.1_Intron|DBF4B_uc002ihe.2_Silent_p.H59H|DBF4B_uc010wjc.1_Silent_p.H229H	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B isoform 1	245					cell cycle	nucleus	nucleic acid binding|zinc ion binding				0		Prostate(33;0.0322)				CTTTCCATCATCAGTTTAAAT	0.507													C	42818725	T	C	42818725	2	2	94	1	0	0	0	0	0	0	0	1	4249	1432	50	3		3	DBF4B	17	42818725	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	365268	42818725	38376485	2877	62010											
EFTUD2	9343	broad.mit.edu	37	chr17	42940144	42940144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcttcctcatcctccaggGtgtagttctcccccagtacc	7	16	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:42940144G>A	uc002ihn.2	-	16	1805	c.1544C>T	c.(1543-1545)ACC>ATC	p.T515I	EFTUD2_uc010wje.1_Missense_Mutation_p.T480I|EFTUD2_uc010wjf.1_Missense_Mutation_p.T505I	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	515						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				ATCCTCCAGGGTGTAGTTCTC	0.582													A	42940144	G	A	42940144	3	1	94	1	0	0	0	0	1	0	0	0	4961	1261	44	4	1426	4	EFTUD2	17	42940144	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	121419	42940144	38255066	2878	62011											
FMNL1	752	broad.mit.edu	37	chr17	43318567	43318567	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactggaaaaacagctaagCcaggcgcgcaaggagttgga	14	8	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:43318567C>T	uc002iin.2	+	13	1502	c.1302C>T	c.(1300-1302)AGC>AGT	p.S434S	FMNL1_uc002iiq.2_Silent_p.S12S|FMNL1_uc010dag.2_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	434	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						AACAGCTAAGCCAGGCGCGCA	0.612													T	43318567	C	T	43318567	2	4	94	1	0	0	0	0	0	0	0	1	5951	738	26	2		2	FMNL1	17	43318567	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	378423	43318567	37876643	2879	62012											
C17orf46	124783	broad.mit.edu	37	chr17	43332690	43332690	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtgattttctggctctcGctcctccacagtggtcagga	11	12	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:43332690G>A	uc002iis.1	-	4	955	c.859C>T	c.(859-861)CGA>TGA	p.R287*	LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Nonsense_Mutation_p.R266*	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	hypothetical protein LOC124783	287										large_intestine(1)|ovary(1)	2						TCTGGCTCTCGCTCCTCCACA	0.562													A	43332690	G	A	43332690	4	1	94	1	0	0	0	0	0	1	0	0	1857	1095	38	1	303	1	C17orf46	17	43332690	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	14123	43332690	37862520	2880	62013											
C17orf46	124783	broad.mit.edu	37	chr17	43333435	43333435	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctgctctagcatgtctgcCtccagctgaaatgtttcaac	7	12	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:43333435C>A	uc002iis.1	-	4	210	c.114G>T	c.(112-114)GAG>GAT	p.E38D	LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Missense_Mutation_p.E17D	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	hypothetical protein LOC124783	38										large_intestine(1)|ovary(1)	2						GCATGTCTGCCTCCAGCTGAA	0.547													A	43333435	C	A	43333435	3	1	94	1	0	0	0	0	1	0	0	0	1857	680	24	5	1048	5	C17orf46	17	43333435	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	745	43333435	37861775	2881	62014											
ARHGAP27	201176	broad.mit.edu	37	chr17	43473180	43473180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgagcgcaccaagtcacGcacacagcggctgcgccggg	14	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:43473180G>A	uc002iix.2	-	16	1848	c.1399C>T	c.(1399-1401)CGT>TGT	p.R467C	ARHGAP27_uc010dak.2_Missense_Mutation_p.R440C	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27 isoform a	808	Rho-GAP.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding				0	Renal(3;0.0405)					ACCAAGTCACGCACACAGCGG	0.697													A	43473180	G	A	43473180	3	1	94	1	0	0	0	0	1	0	0	0	876	1087	38	1	255	1	ARHGAP27	17	43473180	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	139745	43473180	37722030	2882	62015											
KIAA1267	284058	broad.mit.edu	37	chr17	44110528	44110528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacatttggcatgcagggCggcgaaggctgcgtcggata	15	10	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:44110528C>T	uc002ikb.2	-	12	2840	c.2755G>A	c.(2755-2757)GCC>ACC	p.A919T	KIAA1267_uc002ikc.2_Missense_Mutation_p.A919T|KIAA1267_uc002ikd.2_Missense_Mutation_p.A919T|KIAA1267_uc010dav.2_Missense_Mutation_p.A918T|KIAA1267_uc010wkb.1_Missense_Mutation_p.A250T|KIAA1267_uc010wkc.1_Missense_Mutation_p.A187T	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	919						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				GCATGCAGGGCGGCGAAGGCT	0.602													T	44110528	C	T	44110528	3	4	94	1	0	0	0	0	1	0	0	0	8219	768	27	1	574	1	KIAA1267	17	44110528	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	637348	44110528	37084682	2883	62016											
KIAA1267	284058	broad.mit.edu	37	chr17	44115995	44115995	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaccaagggactgtgtggaGgatggtgggtggctgccaag	19	7	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:44115995G>T	uc002ikb.2	-	9	2535	c.2450C>A	c.(2449-2451)CCT>CAT	p.P817H	KIAA1267_uc002ikc.2_Missense_Mutation_p.P817H|KIAA1267_uc002ikd.2_Missense_Mutation_p.P817H|KIAA1267_uc010dav.2_Missense_Mutation_p.P817H|KIAA1267_uc010wkb.1_Missense_Mutation_p.P148H|KIAA1267_uc010wkc.1_Missense_Mutation_p.P85H	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	817						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				ACTGTGTGGAGGATGGTGGGT	0.527													T	44115995	G	T	44115995	3	4	94	1	0	0	0	0	1	0	0	0	8219	1000	35	5	891	5	KIAA1267	17	44115995	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	5467	44115995	37079215	2884	62017											
CDC27	996	broad.mit.edu	37	chr17	45219283	45219283	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtacccaaccagtattgTagtggtgagaaggtagatgg	13	6	0	2	rs76995821		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:45219283T>C	uc002ild.3	-	12	1614	c.1487A>G	c.(1486-1488)TAC>TGC	p.Y496C	CDC27_uc002ile.3_Missense_Mutation_p.Y502C|CDC27_uc002ilf.3_Missense_Mutation_p.Y495C|CDC27_uc010wkp.1_Missense_Mutation_p.Y435C|CDC27_uc010wkq.1_Intron	NM_001256	NP_001247	P30260	CDC27_HUMAN	cell division cycle protein 27 isoform 2	496					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			lung(2)|breast(2)|ovary(1)	5						ACCAGTATTGTAGTGGTGAGA	0.373													C	45219283	T	C	45219283	3	2	94	1	0	0	0	0	1	0	0	0	3066	1638	57	3	1019	3	CDC27	17	45219283	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1103288	45219283	35975927	2885	62018											
C17orf57	124989	broad.mit.edu	37	chr17	45471395	45471395	+	Frame_Shift_Del	DEL	A	A	-													tttctttttcctgtagaaacAaaaaaagtgaattttaaaga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:45471395delA	uc002iln.2	+	16	2142	c.1731delA	c.(1729-1731)ACAfs	p.T577fs	C17orf57_uc002ilm.2_Frame_Shift_Del_p.T481fs	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	hypothetical protein LOC124989	577							calcium ion binding			breast(1)|central_nervous_system(1)|skin(1)	3						CTGTAGAAACAAAAAAAGTGA	0.214													-	45471395	A	-	45471395	7	5	94	1	0	1	0	1	0	0	0	0	1865	117	5	0	1781	0	C17orf57	17	45471395	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	252112	45471395	35723815	2886	62019											
NFE2L1	4779	broad.mit.edu	37	chr17	46128959	46128959	+	Frame_Shift_Del	DEL	C	C	-													ggaggatttgggggctgtagCccccccagtcagtggagact							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:46128959delC	uc002imz.3	+	2	1130	c.479delC	c.(478-480)GCCfs	p.A160fs	NFE2L1_uc002ina.3_Frame_Shift_Del_p.A160fs|NFE2L1_uc002inb.3_Frame_Shift_Del_p.A160fs|NFE2L1_uc002inc.1_Frame_Shift_Del_p.A160fs	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	160	Asp/Glu-rich (acidic).				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			skin(1)	1						GGGGCTGTAGCCCCCCCAGTC	0.592													-	46128959	C	-	46128959	7	5	94	1	0	1	0	1	0	0	0	0	10367	739	26	0	481	0	NFE2L1	17	46128959	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	657564	46128959	35066251	2887	62020											
SNX11	29916	broad.mit.edu	37	chr17	46189966	46189966	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcgtgttcaggaccccCgagtgcagaatgagggctcc	14	12	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:46189966C>T	uc002inf.1	+	4	427	c.73C>T	c.(73-75)CGA>TGA	p.R25*	SNX11_uc010wlg.1_Nonsense_Mutation_p.R17*|SNX11_uc010wlh.1_Nonsense_Mutation_p.R17*|SNX11_uc010wli.1_5'UTR|SNX11_uc010wlj.1_Intron|SNX11_uc002ing.1_Nonsense_Mutation_p.R25*|SNX11_uc002inh.1_Nonsense_Mutation_p.R25*	NM_152244	NP_689450	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	25	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding				0						TCAGGACCCCCGAGTGCAGAA	0.507													T	46189966	C	T	46189966	4	4	94	1	0	0	0	0	0	1	0	0	14882	644	23	1	79	1	SNX11	17	46189966	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	61007	46189966	35005244	2888	62021											
HOXB3	3213	broad.mit.edu	37	chr17	46629702	46629702	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagctgagcgctggtagtcGccctccaggtgcgtggcggc	16	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:46629702G>A	uc002inn.2	-	1	535	c.135C>T	c.(133-135)GGC>GGT	p.G45G	HOXB3_uc010wlm.1_5'UTR|HOXB3_uc010dbf.2_Silent_p.G45G|HOXB3_uc010dbg.2_Silent_p.G45G|HOXB3_uc002ino.2_Silent_p.G45G|HOXB3_uc010wlk.1_Intron|HOXB3_uc010wll.1_5'UTR	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	45					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GCTGGTAGTCGCCCTCCAGGT	0.647													A	46629702	G	A	46629702	2	1	94	1	0	0	0	0	0	0	0	1	7302	1074	38	1		1	HOXB3	17	46629702	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	439736	46629702	34565508	2889	62022											
HOXB5	3215	broad.mit.edu	37	chr17	46669679	46669679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatcttgatctggcgctcGgacaggcagagtgcgtgggc	16	10	2	3	rs140096647		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:46669679G>A	uc002inr.2	-	2	761	c.702C>T	c.(700-702)TCC>TCT	p.S234S	HOXB3_uc010wlm.1_5'Flank|HOXB3_uc010dbf.2_5'Flank|HOXB3_uc010dbg.2_5'Flank	NM_002147	NP_002138	P09067	HXB5_HUMAN	homeobox B5	234	Homeobox.					nucleus	sequence-specific DNA binding				0						TCTGGCGCTCGGACAGGCAGA	0.577													A	46669679	G	A	46669679	2	1	94	1	0	0	0	0	0	0	0	1	7304	1103	39	1		1	HOXB5	17	46669679	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	39977	46669679	34525531	2890	62023											
HOXB9	3219	broad.mit.edu	37	chr17	46703540	46703540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcgagctcgcgtactggCcagaaggaaacttggctgga	15	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:46703540C>T	uc002inx.2	-	1	296	c.92G>A	c.(91-93)GGC>GAC	p.G31D		NM_024017	NP_076922	P17482	HXB9_HUMAN	homeobox B9	31					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CGCGTACTGGCCAGAAGGAAA	0.617													T	46703540	C	T	46703540	3	4	94	1	0	0	0	0	1	0	0	0	7308	739	26	2	668	2	HOXB9	17	46703540	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	33861	46703540	34491670	2891	62024											
TTLL6	284076	broad.mit.edu	37	chr17	46862565	46862565	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtcaatggctggatgtacTgagggaggaagaaaccacaa	13	6	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:46862565T>C	uc010wlo.1	-	14	1797	c.1762_splice	c.e14-1	p.Y588_splice	TTLL6_uc002iob.2_Splice_Site_p.Y281_splice|TTLL6_uc010dbi.2_Splice_Site|TTLL6_uc002ioc.2_Splice_Site_p.Y341_splice|TTLL6_uc002iod.2_Splice_Site_p.Y435_splice	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6							cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity				0						CTGGATGTACTGAGGGAGGAA	0.483													C	46862565	T	C	46862565	5	2	94	1	0	0	0	0	0	0	1	0	16728	1594	55	3	927	3	TTLL6	17	46862565	Splice_Site	SNP	T	TCGA-BR-8487-01A-11D-2394-08	159025	46862565	34332645	2892	62025											
COL1A1	1277	broad.mit.edu	37	chr17	48269838	48269838	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggctgctccctcttacctGttcaccaggtttgcctgctt	8	16	2	0	rs72651631		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:48269838G>T	uc002iqm.2	-	29	2107	c.1981C>A	c.(1981-1983)CAG>AAG	p.Q661K		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	661	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	CCTCTTACCTGTTCACCAGGT	0.557			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						T	48269838	G	T	48269838	3	4	94	1	0	0	0	0	1	0	0	0	3677	1386	48	5	2505	5	COL1A1	17	48269838	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1407273	48269838	32925372	2893	62026											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602													-	48433967	C	-	48433967	7	5	94	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	164129	48433967	32761243	2894	62027											
EME1	146956	broad.mit.edu	37	chr17	48458214	48458214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggtgtgacatccacttctCgccgcattggaccagaacta	9	12	1	2	rs150098713		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:48458214C>T	uc002iqs.1	+	9	1700	c.1627C>T	c.(1627-1629)CGC>TGC	p.R543C	EME1_uc010dbp.1_Missense_Mutation_p.R556C|EME1_uc010dbq.1_RNA|uc010wmk.1_5'Flank	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	essential meiotic endonuclease 1 homolog 1	543					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding				0	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			ATCCACTTCTCGCCGCATTGG	0.502								Direct_reversal_of_damage|Homologous_recombination					T	48458214	C	T	48458214	3	4	94	1	0	0	0	0	1	0	0	0	5088	884	31	1	1696	1	EME1	17	48458214	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	24247	48458214	32736996	2895	62028											
CACNA1G	8913	broad.mit.edu	37	chr17	48692727	48692727	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccctgccccatcagaagccCagtgcaaaccttactactcc	5	19	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:48692727C>A	uc002irk.1	+	27	5137	c.4765C>A	c.(4765-4767)CAG>AAG	p.Q1589K	CACNA1G_uc002irj.1_Missense_Mutation_p.Q1555K|CACNA1G_uc002irl.1_Missense_Mutation_p.Q1566K|CACNA1G_uc002irm.1_Missense_Mutation_p.Q1555K|CACNA1G_uc002irn.1_Missense_Mutation_p.Q1548K|CACNA1G_uc002iro.1_Missense_Mutation_p.Q1555K|CACNA1G_uc002irp.1_Missense_Mutation_p.Q1589K|CACNA1G_uc002irq.1_Missense_Mutation_p.Q1566K|CACNA1G_uc002irr.1_Missense_Mutation_p.Q1589K|CACNA1G_uc002irs.1_Missense_Mutation_p.Q1578K|CACNA1G_uc002irt.1_Missense_Mutation_p.Q1571K|CACNA1G_uc002irv.1_Missense_Mutation_p.Q1578K|CACNA1G_uc002irw.1_Missense_Mutation_p.Q1566K|CACNA1G_uc002iru.1_Missense_Mutation_p.Q1555K|CACNA1G_uc002irx.1_Missense_Mutation_p.Q1502K|CACNA1G_uc002iry.1_Missense_Mutation_p.Q1491K|CACNA1G_uc002irz.1_Missense_Mutation_p.Q1502K|CACNA1G_uc002isa.1_Missense_Mutation_p.Q1468K|CACNA1G_uc002isb.1_Missense_Mutation_p.Q1509K|CACNA1G_uc002isc.1_Missense_Mutation_p.Q1491K|CACNA1G_uc002isd.1_Missense_Mutation_p.Q1484K|CACNA1G_uc002ise.1_Missense_Mutation_p.Q1457K|CACNA1G_uc002isf.1_Missense_Mutation_p.Q1484K|CACNA1G_uc002isg.1_Missense_Mutation_p.Q1450K|CACNA1G_uc002ish.1_Missense_Mutation_p.Q1457K|CACNA1G_uc002isi.1_Missense_Mutation_p.Q1445K	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1589	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ATCAGAAGCCCAGTGCAAACC	0.637													A	48692727	C	A	48692727	3	1	94	1	0	0	0	0	1	0	0	0	2544	595	21	5	5138	5	CACNA1G	17	48692727	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	234513	48692727	32502483	2896	62029											
ABCC3	8714	broad.mit.edu	37	chr17	48753397	48753397	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccatggcagacagtagaCagaacaacacttccctgagg	10	11	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:48753397C>T	uc002isl.2	+	22	3093	c.3013C>T	c.(3013-3015)CAG>TAG	p.Q1005*	ABCC3_uc002isn.2_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	1005	ABC transmembrane type-1 2.|Extracellular (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AGACAGTAGACAGAACAACAC	0.542													T	48753397	C	T	48753397	4	4	94	1	0	0	0	0	0	1	0	0	54	479	17	4	3183	4	ABCC3	17	48753397	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	60670	48753397	32441813	2897	62030											
NME1-NME2	654364	broad.mit.edu	37	chr17	49247383	49247383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaagccaggcaccattcGtggggacttctgcattcagg	11	11	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:49247383G>A	uc002itk.2	+	8	987	c.734G>A	c.(733-735)CGT>CAT	p.R245H	NME1-NME2_uc002itj.2_Missense_Mutation_p.R220H|NME2_uc002itl.2_Missense_Mutation_p.R105H|NME2_uc002itm.2_Missense_Mutation_p.R105H|NME2_uc002itn.2_Missense_Mutation_p.R105H|NME2_uc002ito.2_Missense_Mutation_p.R105H	NM_002512	NP_002503	P22392	NDKB_HUMAN	nucleoside diphosphate kinase B	105		ATP.			cell adhesion|CTP biosynthetic process|GTP biosynthetic process|negative regulation of apoptosis|nucleobase, nucleoside and nucleotide interconversion|positive regulation of epithelial cell proliferation|positive regulation of keratinocyte differentiation|UTP biosynthetic process	cytosol|lamellipodium|nucleus|ruffle	ATP binding|DNA binding|metal ion binding|nucleoside diphosphate kinase activity|protein binding|protein histidine kinase activity|sequence-specific DNA binding transcription factor activity				0			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GGCACCATTCGTGGGGACTTC	0.532													A	49247383	G	A	49247383	3	1	94	1	0	0	0	0	1	0	0	0	10490	1145	40	1	681	1	NME1-NME2	17	49247383	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	493986	49247383	31947827	2898	62031											
KIF2B	84643	broad.mit.edu	37	chr17	51901613	51901613	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgaacctggtggaaataGggaatagctgtcggacttcc	13	8	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:51901613G>T	uc002iua.2	+	1	1375	c.1219G>T	c.(1219-1221)GGG>TGG	p.G407W	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	407	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						GGTGGAAATAGGGAATAGCTG	0.522													T	51901613	G	T	51901613	3	4	94	1	0	0	0	0	1	0	0	0	8298	1000	35	5	1221	5	KIF2B	17	51901613	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2654230	51901613	29293597	2899	62032											
NOG	9241	broad.mit.edu	37	chr17	54672213	54672213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtggcgctgtcagcggcGcgggggccagcgctgcggct	21	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:54672213G>A	uc002iup.2	+	1	1154	c.629G>A	c.(628-630)CGC>CAC	p.R210H		NM_005450	NP_005441	Q13253	NOGG_HUMAN	noggin precursor	210					BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity				0	Breast(9;5.24e-08)					TGTCAGCGGCGCGGGGGCCAG	0.677													A	54672213	G	A	54672213	3	1	94	1	0	0	0	0	1	0	0	0	10519	1087	38	1	631	1	NOG	17	54672213	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2770600	54672213	26522997	2900	62033											
COIL	8161	broad.mit.edu	37	chr17	55019424	55019424	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtcacagcgtactccActacctcggctccattttca	6	16	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:55019424A>G	uc002iuu.2	-	6	1650	c.1619T>C	c.(1618-1620)GTG>GCG	p.V540A		NM_004645	NP_004636	P38432	COIL_HUMAN	coilin	540						Cajal body|nucleolus	protein C-terminus binding			ovary(1)	1	Breast(9;6.15e-08)					AGCGTACTCCACTACCTCGGC	0.448													G	55019424	A	G	55019424	3	3	94	1	0	0	0	0	1	0	0	0	3665	159	6	3	119	3	COIL	17	55019424	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	347211	55019424	26175786	2901	62034											
AKAP1	8165	broad.mit.edu	37	chr17	55183827	55183827	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggagagcttggatagaaaTgaggagggcttggatagaaa	17	2	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:55183827T>C	uc002iux.2	+	2	1233	c.1002T>C	c.(1000-1002)AAT>AAC	p.N334N	AKAP1_uc010wnl.1_Silent_p.N334N|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Silent_p.N334N	NM_003488	NP_003479	Q92667	AKAP1_HUMAN	A-kinase anchor protein 1 precursor	334					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			ovary(1)	1	Breast(9;5.46e-08)					TGGATAGAAATGAGGAGGGCT	0.502													C	55183827	T	C	55183827	2	2	94	1	0	0	0	0	0	0	0	1	445	1461	51	3		3	AKAP1	17	55183827	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	164403	55183827	26011383	2902	62035											
MSI2	124540	broad.mit.edu	37	chr17	55478773	55478773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagaaaatatttgtaggcGggttatctgcgaacacagta	10	6	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:55478773G>A	uc002iuz.1	+	6	519	c.346G>A	c.(346-348)GGG>AGG	p.G116R	MSI2_uc010wnm.1_Missense_Mutation_p.G94R|MSI2_uc002iva.2_Missense_Mutation_p.G112R	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN	musashi 2 isoform a	116	RRM 2.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|pancreas(1)	2	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		ATTTGTAGGCGGGTTATCTGC	0.458			T	HOXA9	CML								A	55478773	G	A	55478773	3	1	94	1	0	0	0	0	1	0	0	0	9876	1116	39	1	418	1	MSI2	17	55478773	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	294946	55478773	25716437	2903	62036											
EPX	8288	broad.mit.edu	37	chr17	56274428	56274428	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctcacctcctttgtggaCgccagcatggtgtatggcag	13	12	1	0	rs150544366	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:56274428C>T	uc002ivq.2	+	7	1016	c.930C>T	c.(928-930)GAC>GAT	p.D310D		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	310		Calcium (By similarity).			hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						CCTTTGTGGACGCCAGCATGG	0.597													T	56274428	C	T	56274428	2	4	94	1	0	0	0	0	0	0	0	1	5200	535	19	1		1	EPX	17	56274428	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	795655	56274428	24920782	2904	62037											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	94	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	160733	56435161	24760049	2905	62038											
RNF43	54894	broad.mit.edu	37	chr17	56435590	56435590	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtccactcgctggggaTcccctttagggctgcagtac	12	13	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:56435590T>C	uc002iwf.2	-	8	3503	c.1547A>G	c.(1546-1548)GAT>GGT	p.D516G	RNF43_uc010wnv.1_Missense_Mutation_p.D475G|RNF43_uc002iwh.3_Missense_Mutation_p.D516G|RNF43_uc002iwg.3_Missense_Mutation_p.D516G|RNF43_uc010dcw.2_Missense_Mutation_p.D389G	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	516	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCGCTGGGGATCCCCTTTAGG	0.587													C	56435590	T	C	56435590	3	2	94	1	0	0	0	0	1	0	0	0	13495	1435	50	3	812	3	RNF43	17	56435590	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	429	56435590	24759620	2906	62039											
PPM1E	22843	broad.mit.edu	37	chr17	57057445	57057445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatggcttctatgacaccGtgaaccctgatgaggcagtg	13	9	1	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:57057445G>A	uc002iwx.2	+	7	1448	c.1321G>A	c.(1321-1323)GTG>ATG	p.V441M	PPM1E_uc010ddd.2_Missense_Mutation_p.V204M	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	450	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			CTATGACACCGTGAACCCTGA	0.498													A	57057445	G	A	57057445	3	1	94	1	0	0	0	0	1	0	0	0	12338	1145	40	1	1347	1	PPM1E	17	57057445	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	621855	57057445	24137765	2907	62040											
TRIM37	4591	broad.mit.edu	37	chr17	57093008	57093008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccttttctcaaccgcagGcaagccactgaaaactgcaa	6	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:57093008G>A	uc002iwy.3	-	21	2983	c.2539C>T	c.(2539-2541)CCT>TCT	p.P847S	TRIM37_uc002iwz.3_Missense_Mutation_p.P847S|TRIM37_uc002ixa.3_Missense_Mutation_p.P725S|TRIM37_uc010woc.1_Missense_Mutation_p.P813S	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	847						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCAACCGCAGGCAAGCCACTG	0.398									Mulibrey_Nanism				A	57093008	G	A	57093008	3	1	94	1	0	0	0	0	1	0	0	0	16508	1203	42	2	379	2	TRIM37	17	57093008	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	35563	57093008	24102202	2908	62041											
DHX40	79665	broad.mit.edu	37	chr17	57654702	57654702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaccaatatttctgcaaCgtctttgacaatagatggaa	6	9	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:57654702C>T	uc002ixn.1	+	8	1196	c.1049C>T	c.(1048-1050)ACG>ATG	p.T350M	DHX40_uc010woe.1_Missense_Mutation_p.T273M|DHX40_uc002ixo.1_Missense_Mutation_p.T251M	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	350	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATTTCTGCAACGTCTTTGACA	0.333													T	57654702	C	T	57654702	3	4	94	1	0	0	0	0	1	0	0	0	4512	536	19	1	1079	1	DHX40	17	57654702	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	561694	57654702	23540508	2909	62042											
HEATR6	63897	broad.mit.edu	37	chr17	58121401	58121401	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcttccccgggacggaaagGgcagctgcagatctgatgcg	14	12	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:58121401G>T	uc002iyk.1	-	20	3086	c.3069C>A	c.(3067-3069)GCC>GCA	p.A1023A	HEATR6_uc010ddk.1_Silent_p.A562A|HEATR6_uc010wos.1_Silent_p.A743A	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1023							binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GGACGGAAAGGGCAGCTGCAG	0.542													T	58121401	G	T	58121401	2	4	94	1	0	0	0	0	0	0	0	1	7033	1219	43	5		5	HEATR6	17	58121401	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	466699	58121401	23073809	2910	62043											
HEATR6	63897	broad.mit.edu	37	chr17	58147144	58147144	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccatcatactgaggaagCggagttgggtataacaccgt	12	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:58147144C>T	uc002iyk.1	-	7	884	c.867G>A	c.(865-867)CCG>CCA	p.P289P	HEATR6_uc010wos.1_Silent_p.P121P	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	289							binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			ACTGAGGAAGCGGAGTTGGGT	0.413													T	58147144	C	T	58147144	2	4	94	1	0	0	0	0	0	0	0	1	7033	755	27	1		1	HEATR6	17	58147144	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	25743	58147144	23048066	2911	62044											
PPM1D	8493	broad.mit.edu	37	chr17	58740439	58740439	+	Frame_Shift_Del	DEL	T	T	-													agcaatgccttctcagagaaTtttttagaggtttcagctga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:58740439delT	uc002iyt.1	+	6	1566	c.1344delT	c.(1342-1344)AATfs	p.N448fs	PPM1D_uc010ddm.1_RNA	NM_003620	NP_003611	O15297	PPM1D_HUMAN	protein phosphatase 1D	448					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			upper_aerodigestive_tract(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TCTCAGAGAATTTTTTAGAGG	0.448											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	-	58740439	T	-	58740439	7	5	94	1	0	1	0	1	0	0	0	0	12337	1490	52	0	1366	0	PPM1D	17	58740439	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	593295	58740439	22454771	2912	62045											
INTS2	57508	broad.mit.edu	37	chr17	59967232	59967232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctgtgatactgaaacgCtgattaaggcggatgttgtc	13	6	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:59967232C>T	uc002izn.2	-	15	1999	c.1923G>A	c.(1921-1923)CAG>CAA	p.Q641Q	INTS2_uc002izm.2_Silent_p.Q633Q	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	641					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3						TACTGAAACGCTGATTAAGGC	0.373													T	59967232	C	T	59967232	2	4	94	1	0	0	0	0	0	0	0	1	7778	796	28	2		2	INTS2	17	59967232	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1226793	59967232	21227978	2913	62046											
MED13	9969	broad.mit.edu	37	chr17	60088303	60088303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtgaatttgccatttcGgtgccatgcatctgaggagt	13	7	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:60088303G>A	uc002izo.2	-	9	1652	c.1575C>T	c.(1573-1575)ACC>ACT	p.T525T	MED13_uc002izp.2_Silent_p.T141T	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	525					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						TTGCCATTTCGGTGCCATGCA	0.463													A	60088303	G	A	60088303	2	1	94	1	0	0	0	0	0	0	0	1	9430	1103	39	1		1	MED13	17	60088303	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	121071	60088303	21106907	2914	62047											
MED13	9969	broad.mit.edu	37	chr17	60111269	60111269	+	Frame_Shift_Del	DEL	T	T	-													tgtttccattcaccaattaaTttttttgtagctgaatcaga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:60111268_60111268AT>A	uc002izo.3	-	4	771	c.694_694AT>T	c.(694-696)ttafs	p.L232fs	Y_RNA_uc021ubc.1_5'Flank	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	232					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCACCAATTAATTTTTTTGTA	0.383													-	60111269	T	-	60111269	7	5	94	1	0	1	0	1	0	0	0	0	9430	1490	52	0	5935	0	MED13	17	60111269	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	22966	60111269	21083941	2915	62048											
METTL2A	339175	broad.mit.edu	37	chr17	60522297	60522298	+	Frame_Shift_Ins	INS	-	-	A													acatggctcagcttcggtttINSaaaaaaggtattttgaaagt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:60522297_60522298insA	uc002izv.2	+	7	927_928	c.909_910insA	c.(907-912)TTTAAAfs	p.F303fs	METTL2A_uc002izw.2_Frame_Shift_Ins_p.F167fs	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	303_304							methyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			AGCTTCGGTTTAAAAAAGGTAT	0.332													A	60522298	-	A	60522297	7	5	94	1	0	1	1	0	0	0	0	0	9499	1751	61	0	935	0	METTL2A	17	60522297	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	411028	60522297	20672913	2916	62049	295	2									
METTL2A	339175	broad.mit.edu	37	chr17	60522298	60522299	+	Frame_Shift_Ins	INS	-	-	A													catggctcagcttcggtttaINSaaaaaggtattttgaaagtg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:60522297_60522298T>TA	uc002izv.2	+	6	927_928	c.909_910T>TA	c.(907-912)tttaaafs	p.F303fs	METTL2A_uc002izw.3_Frame_Shift_Ins_p.F167fs	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	Homo sapiens methyltransferase like 2A (METTL2A), mRNA.	303							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			AGCTTCGGTTTAAAAAAGGTAT	0.465													A	60522299	-	A	60522298	7	5	94	1	0	1	1	0	0	0	0	0	9499	363	13	0	936	0	METTL2A	17	60522298	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	60522298	20672912	2917	62050	295	2									
MRC2	9902	broad.mit.edu	37	chr17	60753167	60753167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggttggacgtggcacaGcccatcctgctactggctgg	14	13	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:60753167G>A	uc002jad.2	+	10	1988	c.1586G>A	c.(1585-1587)AGC>AAC	p.S529N	MRC2_uc002jac.2_Missense_Mutation_p.S529N|MRC2_uc010ddq.1_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	529	Extracellular (Potential).|C-type lectin 3.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						ACGTGGCACAGCCCATCCTGC	0.587													A	60753167	G	A	60753167	3	1	94	1	0	0	0	0	1	0	0	0	9758	971	34	2	1624	2	MRC2	17	60753167	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	230869	60753167	20442043	2918	62051											
ACE	1636	broad.mit.edu	37	chr17	61571754	61571754	+	Frame_Shift_Del	DEL	C	C	-													ctgaagtaccagggcctctgCcccccagtgcccaggactca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:61571754delC	uc002jau.1	+	22	3325	c.3303delC	c.(3301-3303)TGCfs	p.C1101fs	ACE_uc002jav.1_Frame_Shift_Del_p.C527fs|ACE_uc010ddv.1_Frame_Shift_Del_p.C328fs|ACE_uc010wpj.1_Frame_Shift_Del_p.C527fs|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Frame_Shift_Del_p.C347fs	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	1101	Extracellular (Potential).|Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AGGGCCTCTGCCCCCCAGTGC	0.562													-	61571754	C	-	61571754	7	5	94	1	0	1	0	1	0	0	0	0	136	747	26	0	3592	0	ACE	17	61571754	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	818587	61571754	19623456	2919	62052											
KCNH6	81033	broad.mit.edu	37	chr17	61607783	61607783	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccagatcccacagttcacGctcaacttcgtggagttcaa	8	13	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:61607783G>A	uc002jay.2	+	4	635	c.555G>A	c.(553-555)ACG>ACA	p.T185T	KCNH6_uc002jax.1_Silent_p.T185T|KCNH6_uc010wpl.1_Silent_p.T62T|KCNH6_uc010wpm.1_Silent_p.T185T|KCNH6_uc002jaz.1_Silent_p.T185T	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	185	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	CACAGTTCACGCTCAACTTCG	0.607													A	61607783	G	A	61607783	2	1	94	1	0	0	0	0	0	0	0	1	8036	1074	38	1		1	KCNH6	17	61607783	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	36029	61607783	19587427	2920	62053											
MAP3K3	4215	broad.mit.edu	37	chr17	61766937	61766937	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccccgaatacggcgtcatcAaggcaacttgttcaccctgg	9	14	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:61766937A>G	uc002jbg.2	+	11	1224	c.905A>G	c.(904-906)CAA>CGA	p.Q302R	MAP3K3_uc002jbe.2_Missense_Mutation_p.Q333R|MAP3K3_uc002jbf.2_Missense_Mutation_p.Q333R|MAP3K3_uc002jbh.2_Missense_Mutation_p.Q329R|MAP3K3_uc010wpo.1_Missense_Mutation_p.Q217R|MAP3K3_uc010wpp.1_Missense_Mutation_p.Q298R	NM_002401	NP_002392	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	302					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	6						CGGCGTCATCAAGGCAACTTG	0.597													G	61766937	A	G	61766937	3	3	94	1	0	0	0	0	1	0	0	0	9251	130	5	3	1044	3	MAP3K3	17	61766937	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	159154	61766937	19428273	2921	62054											
DDX42	11325	broad.mit.edu	37	chr17	61886281	61886281	+	Frame_Shift_Del	DEL	G	G	-													caggccaaggcccttcaggaGggggcagagattgttgtgtg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:61886281delG	uc002jbu.2	+	11	1382	c.1125delG	c.(1123-1125)GAGfs	p.E375fs	DDX42_uc002jbv.2_Frame_Shift_Del_p.E375fs|DDX42_uc002jbw.1_Frame_Shift_Del_p.E111fs|DDX42_uc002jbx.2_Frame_Shift_Del_p.E111fs|DDX42_uc002jby.2_5'Flank	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	375	Helicase ATP-binding.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)|large_intestine(1)	5						CCCTTCAGGAGGGGGCAGAGA	0.478													-	61886281	G	-	61886281	7	5	94	1	0	1	0	1	0	0	0	0	4362	991	35	0	1159	0	DDX42	17	61886281	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	119344	61886281	19308929	2922	62055											
PSMC5	5705	broad.mit.edu	37	chr17	61908745	61908745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcactgcttcgcccagggcGcattgacagaaaaattgaat	11	10	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:61908745G>A	uc002jcb.2	+	9	970	c.929G>A	c.(928-930)CGC>CAC	p.R310H	PSMC5_uc010ddy.2_Missense_Mutation_p.R287H|PSMC5_uc010ddz.2_Missense_Mutation_p.R231H|PSMC5_uc002jcc.2_Missense_Mutation_p.R302H|PSMC5_uc002jcd.2_Missense_Mutation_p.R302H	NM_002805	NP_002796	P62195	PRS8_HUMAN	proteasome 26S ATPase subunit 5	310					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			large_intestine(1)	1						CGCCCAGGGCGCATTGACAGA	0.532													A	61908745	G	A	61908745	3	1	94	1	0	0	0	0	1	0	0	0	12690	1087	38	1	963	1	PSMC5	17	61908745	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	22464	61908745	19286465	2923	62056											
AXIN2	8313	broad.mit.edu	37	chr17	63533939	63533940	+	Frame_Shift_Del	DEL	CT	CT	-													ttgagtgtgagctcggagccCtctctctcttcatcctgaaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:63533939_63533940delCT	uc002jfi.2	-	6	1503_1504	c.1214_1215delAG	c.(1213-1215)GAGfs	p.E405fs	AXIN2_uc002jfh.2_Frame_Shift_Del_p.E405fs	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	405	Interaction with GSK3B (By similarity).				cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						GCTCGGAGCCCTCTCTCTCTTC	0.624									Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				-	63533940	CT	-	63533939	7	5	94	1	0	1	0	1	0	0	0	0	1237	680	24	0	1340	0	AXIN2	17	63533939	Frame_Shift_Del	DEL	CT	TCGA-BR-8487-01A-11D-2394-08	1625194	63533939	17661271	2924	62057											
APOH	350	broad.mit.edu	37	chr17	64219843	64219843	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaggaagctccgggctccAttttccttcctcagtgcact	9	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:64219843A>G	uc002jfn.3	-	4	447	c.388T>C	c.(388-390)TGG>CGG	p.W130R		NM_000042	NP_000033	P02749	APOH_HUMAN	apolipoprotein H precursor	130	Sushi 2.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding				0			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TCCGGGCTCCATTTTCCTTCC	0.323													G	64219843	A	G	64219843	3	3	94	1	0	0	0	0	1	0	0	0	804	217	8	3	669	3	APOH	17	64219843	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	685904	64219843	16975367	2925	62058											
APOH	350	broad.mit.edu	37	chr17	64224206	64224206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaactttctcatccctcctCgggacacatagcccggcttg	7	15	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:64224206C>T	uc002jfn.3	-	2	232	c.173G>A	c.(172-174)CGA>CAA	p.R58Q		NM_000042	NP_000033	P02749	APOH_HUMAN	apolipoprotein H precursor	58	Sushi 1.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding				0			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CATCCCTCCTCGGGACACATA	0.468													T	64224206	C	T	64224206	3	4	94	1	0	0	0	0	1	0	0	0	804	884	31	1	892	1	APOH	17	64224206	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4363	64224206	16971004	2926	62059											
ABCA6	23460	broad.mit.edu	37	chr17	67125767	67125767	+	Frame_Shift_Del	DEL	A	A	-													ttaccaaagataagccatatAaaaaaaagagtataaatatg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:67125766_67125766TA>T	uc002jhw.1	-	6	1093	c.918_918TA>A	c.(916-918)ttafs	p.L306fs		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	306					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATAAGCCATATAAAAAAAAGA	0.303													-	67125767	A	-	67125767	7	5	94	1	0	1	0	1	0	0	0	0	36	372	13	0	4068	0	ABCA6	17	67125767	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	2901561	67125767	14069443	2927	62060											
ABCA10	10349	broad.mit.edu	37	chr17	67190626	67190626	+	Frame_Shift_Del	DEL	A	A	-													atctgtccttcatatatgtcAaaaaatatgcctgttttaga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:67190626delA	uc010dfa.1	-	13	2124	c.1245delT	c.(1243-1245)TTTfs	p.F415fs	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Frame_Shift_Del_p.F16fs	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	415	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					CATATATGTCAAAAAATATGC	0.328													-	67190626	A	-	67190626	7	5	94	1	0	1	0	1	0	0	0	0	29	127	5	0	3498	0	ABCA10	17	67190626	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	64859	67190626	14004584	2928	62061											
SOX9	6662	broad.mit.edu	37	chr17	70117712	70117714	+	In_Frame_Del	DEL	GAA	GAA	-													cccaagggcgagcccgatctGaagaaggagagcgaggagga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:70117712_70117714delGAA	uc002jiw.2	+	1	552_554	c.180_182delGAA	c.(178-183)CTGAAG>CTG	p.K62del	uc002jiv.2_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	transcription factor SOX9	62					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription				0		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			AGCCCGATCTGAAGAAGGAGAGC	0.69													-	70117714	GAA	-	70117712	7	5	94	1	0	1	0	1	0	0	0	0	14958	1277	45	0	182	0	SOX9	17	70117712	In_Frame_Del	DEL	GAA	TCGA-BR-8487-01A-11D-2394-08	2927086	70117712	11077498	2929	62062											
DNAI2	64446	broad.mit.edu	37	chr17	72308361	72308361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacgccataaagctgacgCcagtgcctgtaggggcctgg	14	12	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:72308361C>T	uc002jkf.2	+	12	1813	c.1714C>T	c.(1714-1716)CCA>TCA	p.P572S	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_Intron|uc002jkh.1_5'Flank|DNAI2_uc002jki.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	572					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						AAAGCTGACGCCAGTGCCTGT	0.343									Kartagener_syndrome				T	72308361	C	T	72308361	3	4	94	1	0	0	0	0	1	0	0	0	4610	739	26	2	1756	2	DNAI2	17	72308361	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2190649	72308361	8886849	2930	62063											
KIF19	124602	broad.mit.edu	37	chr17	72351078	72351078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccctccaagccagaacaCgggtcagtatgggcaaggag	12	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:72351078C>T	uc002jkm.3	+	19	3002	c.2864C>T	c.(2863-2865)ACG>ATG	p.T955M		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	955					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						AGCCAGAACACGGGTCAGTAT	0.612													T	72351078	C	T	72351078	3	4	94	1	0	0	0	0	1	0	0	0	8282	536	19	1	2938	1	KIF19	17	72351078	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	42717	72351078	8844132	2931	62064											
SLC9A3R1	9368	broad.mit.edu	37	chr17	72764669	72764669	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcgtctacctcctcctcCgaccccatcctagacttcaa	3	21	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:72764669C>T	uc002jlo.2	+	6	1174	c.951C>T	c.(949-951)TCC>TCT	p.S317S	SLC9A3R1_uc002jlp.2_Silent_p.S161S	NM_004252	NP_004243	O14745	NHRF1_HUMAN	sodium/hydrogen exchanger regulatory factor 1	317					apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association				0						CCTCCTCCTCCGACCCCATCC	0.587													T	72764669	C	T	72764669	2	4	94	1	0	0	0	0	0	0	0	1	14714	639	23	1		1	SLC9A3R1	17	72764669	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	413591	72764669	8430541	2932	62065											
GRIN2C	2905	broad.mit.edu	37	chr17	72848528	72848528	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgcgtgcgcgcgcgcgGccctcccgggcccagctcca	15	20	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:72848528G>T	uc002jlt.1	-	3	778	c.622C>A	c.(622-624)CCG>ACG	p.P208T	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.P208T|GRIN2C_uc002jlv.1_3'UTR	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	208	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CGCGCGCGCGGCCCTCCCGGG	0.756													T	72848528	G	T	72848528	3	4	94	1	0	0	0	0	1	0	0	0	6781	1203	42	5	3123	5	GRIN2C	17	72848528	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	83859	72848528	8346682	2933	62066											
FDXR	2232	broad.mit.edu	37	chr17	72861876	72861876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggtcagtaggatgcgggCcacgtccagagccacgttcc	15	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:72861876C>T	uc002jly.2	-	6	661	c.574G>A	c.(574-576)GCC>ACC	p.A192T	FDXR_uc010wri.1_Missense_Mutation_p.A140T|FDXR_uc010wrj.1_Missense_Mutation_p.A190T|FDXR_uc002jlw.2_5'UTR|FDXR_uc002jlx.2_Missense_Mutation_p.A192T|FDXR_uc002jmc.2_Missense_Mutation_p.A193T|FDXR_uc010wrk.1_Missense_Mutation_p.A223T|FDXR_uc010wrl.1_Missense_Mutation_p.A235T|FDXR_uc002jma.2_Missense_Mutation_p.A193T|FDXR_uc010wrm.1_Missense_Mutation_p.A152T|FDXR_uc002jlz.2_Missense_Mutation_p.A184T|FDXR_uc002jmb.2_RNA	NM_024417	NP_077728	P22570	ADRO_HUMAN	ferredoxin reductase isoform 1 precursor	192					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)					AGGATGCGGGCCACGTCCAGA	0.647													T	72861876	C	T	72861876	3	4	94	1	0	0	0	0	1	0	0	0	5807	739	26	2	947	2	FDXR	17	72861876	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	13348	72861876	8333334	2934	62067											
OTOP2	92736	broad.mit.edu	37	chr17	72927105	72927105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccctccacacgttgtccGcctgcccacccaaccccggg	8	21	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:72927105G>A	uc010wrp.1	+	7	1464	c.1375G>A	c.(1375-1377)GCC>ACC	p.A459T		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	otopetrin 2	459						integral to membrane				ovary(3)|large_intestine(1)	4	all_lung(278;0.172)|Lung NSC(278;0.207)					CACGTTGTCCGCCTGCCCACC	0.662													A	72927105	G	A	72927105	3	1	94	1	0	0	0	0	1	0	0	0	11306	1087	38	1	1393	1	OTOP2	17	72927105	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	65229	72927105	8268105	2935	62068											
C17orf28	283987	broad.mit.edu	37	chr17	72956280	72956280	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggttgtaggggatcccGtagcccacagggtcataggc	16	9	1	0	rs144217591	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:72956280G>A	uc002jmj.3	-	7	941	c.792C>T	c.(790-792)TAC>TAT	p.Y264Y	C17orf28_uc010wrs.1_Silent_p.Y63Y|C17orf28_uc002jmk.2_Silent_p.Y263Y	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	hypothetical protein LOC283987	264						integral to membrane|plasma membrane	protein binding				0	all_lung(278;0.151)|Lung NSC(278;0.185)					AGGGGATCCCGTAGCCCACAG	0.612													A	72956280	G	A	72956280	2	1	94	1	0	0	0	0	0	0	0	1	1853	1140	40	1		1	C17orf28	17	72956280	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	29175	72956280	8238930	2936	62069											
NUP85	79902	broad.mit.edu	37	chr17	73230754	73230754	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtatcgcgagttccaccgTatgtacggggagaagcgttt	13	8	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:73230754T>C	uc002jng.1	+	17	1898	c.1638T>C	c.(1636-1638)CGT>CGC	p.R546R	NUP85_uc010dgd.1_Silent_p.R501R|NUP85_uc010wrv.1_Silent_p.R500R|NUP85_uc002jnh.1_Silent_p.R149R	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	546					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			AGTTCCACCGTATGTACGGGG	0.522													C	73230754	T	C	73230754	2	2	94	1	0	0	0	0	0	0	0	1	10770	1625	57	3		3	NUP85	17	73230754	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	274474	73230754	7964456	2937	62070											
KIAA0195	9772	broad.mit.edu	37	chr17	73494345	73494345	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttggcttcacactgcagagCttctgtgacagctcccggga	11	12	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:73494345C>A	uc002jnz.3	+	28	3854	c.3579C>A	c.(3577-3579)AGC>AGA	p.S1193R	KIAA0195_uc010wsa.1_Missense_Mutation_p.S1203R|KIAA0195_uc010wsb.1_Missense_Mutation_p.S833R|KIAA0195_uc002job.3_Missense_Mutation_p.S201R	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	1193					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACTGCAGAGCTTCTGTGACA	0.612													A	73494345	C	A	73494345	3	1	94	1	0	0	0	0	1	0	0	0	8160	796	28	5	3685	5	KIAA0195	17	73494345	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	263591	73494345	7700865	2938	62071											
LLGL2	3993	broad.mit.edu	37	chr17	73565074	73565074	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggcacgaggacggcacGgtgcggttctgggatgcctc	16	12	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:73565074G>A	uc002joh.2	+	13	1492	c.1338G>A	c.(1336-1338)ACG>ACA	p.T446T	LLGL2_uc002joi.2_Silent_p.T446T|LLGL2_uc010dgg.1_Silent_p.T446T|LLGL2_uc002joj.2_Silent_p.T435T|LLGL2_uc010wsd.1_Silent_p.T73T	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	446	WD 8.				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGGACGGCACGGTGCGGTTCT	0.657													A	73565074	G	A	73565074	2	1	94	1	0	0	0	0	0	0	0	1	8834	1103	39	1		1	LLGL2	17	73565074	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	70729	73565074	7630136	2939	62072											
ITGB4	3691	broad.mit.edu	37	chr17	73729676	73729676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgtggggagtgccagtgCgggcactgtgtgtgctacgg	20	9	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:73729676C>T	uc002jpg.2	+	13	1747	c.1560C>T	c.(1558-1560)TGC>TGT	p.C520C	ITGB4_uc002jph.2_Silent_p.C520C|ITGB4_uc010dgo.2_Silent_p.C520C|ITGB4_uc002jpi.3_Silent_p.C520C|ITGB4_uc010dgp.1_Silent_p.C520C|ITGB4_uc002jpj.2_Silent_p.C520C|ITGB4_uc010wsh.1_Silent_p.C75C	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	520	II.|Extracellular (Potential).|Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGTGCCAGTGCGGGCACTGTG	0.642													T	73729676	C	T	73729676	2	4	94	1	0	0	0	0	0	0	0	1	7897	776	27	1		1	ITGB4	17	73729676	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	164602	73729676	7465534	2940	62073											
ITGB4	3691	broad.mit.edu	37	chr17	73736063	73736063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcagcgggaacctcaaggGccgtgacgtggtccgctgga	17	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:73736063G>A	uc002jpg.2	+	20	2544	c.2357G>A	c.(2356-2358)GGC>GAC	p.G786D	ITGB4_uc002jph.2_Missense_Mutation_p.G786D|ITGB4_uc010dgo.2_Missense_Mutation_p.G786D|ITGB4_uc002jpi.3_Missense_Mutation_p.G786D|ITGB4_uc010dgp.1_Missense_Mutation_p.G786D|ITGB4_uc002jpj.2_Missense_Mutation_p.G786D	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	786	Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AACCTCAAGGGCCGTGACGTG	0.622													A	73736063	G	A	73736063	3	1	94	1	0	0	0	0	1	0	0	0	7897	1203	42	2	2431	2	ITGB4	17	73736063	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	6387	73736063	7459147	2941	62074											
TRIM65	201292	broad.mit.edu	37	chr17	73887136	73887136	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggctgtcctcctggacGcagagcccccaggagcaggg	16	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:73887136G>A	uc002jpx.2	-	6	1314	c.1278C>T	c.(1276-1278)TGC>TGT	p.C426C		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	tripartite motif-containing 65	426	B30.2/SPRY.					intracellular	zinc ion binding				0			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTCCTGGACGCAGAGCCCCC	0.687													A	73887136	G	A	73887136	2	1	94	1	0	0	0	0	0	0	0	1	16536	1079	38	1		1	TRIM65	17	73887136	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	151073	73887136	7308074	2942	62075											
EVPL	2125	broad.mit.edu	37	chr17	74018608	74018608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggcccgtactggcctgcGcagacctgcttctgcaggag	13	16	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:74018608G>A	uc002jqi.2	-	5	720	c.492C>T	c.(490-492)TGC>TGT	p.C164C	EVPL_uc010wss.1_Silent_p.C164C|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	164	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						ACTGGCCTGCGCAGACCTGCT	0.662													A	74018608	G	A	74018608	2	1	94	1	0	0	0	0	0	0	0	1	5292	1079	38	1		1	EVPL	17	74018608	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	131472	74018608	7176602	2943	62076											
GALR2	8811	broad.mit.edu	37	chr17	74073369	74073369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttggagcgcgagtccagcGacctgttgcacatgagcgag	15	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:74073369G>A	uc002jqm.1	+	2	1102	c.1021G>A	c.(1021-1023)GAC>AAC	p.D341N	ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	341	Cytoplasmic (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0						CGAGTCCAGCGACCTGTTGCA	0.751													A	74073369	G	A	74073369	3	1	94	1	0	0	0	0	1	0	0	0	6228	1058	37	1	1027	1	GALR2	17	74073369	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	54761	74073369	7121841	2944	62077											
ZACN	353174	broad.mit.edu	37	chr17	74077646	74077646	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggctgaagaacacggcGctcaagtccatcatcgctct	10	13	3	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:74077646G>A	uc002jqn.2	+	7	773	c.690G>A	c.(688-690)GCG>GCA	p.A230A	ZACN_uc002jqo.2_RNA|ZACN_uc010dgu.2_Intron|EXOC7_uc002jqp.1_3'UTR|EXOC7_uc010dgv.1_3'UTR|EXOC7_uc002jqs.2_3'UTR|EXOC7_uc002jqq.2_3'UTR|EXOC7_uc010wsw.1_3'UTR|EXOC7_uc010wsx.1_3'UTR|EXOC7_uc002jqr.2_3'UTR|EXOC7_uc010wsv.1_3'UTR	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	230	Extracellular (Potential).|Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity				0						AGAACACGGCGCTCAAGTCCA	0.667													A	74077646	G	A	74077646	2	1	94	1	0	0	0	0	0	0	0	1	17507	1074	38	1		1	ZACN	17	74077646	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4277	74077646	7117564	2945	62078											
FOXJ1	2302	broad.mit.edu	37	chr17	74133832	74133833	+	Frame_Shift_Ins	INS	-	-	G													ggggtgggcagcagggtgctINSggggggccgcgggaccttgg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:74133832_74133833insG	uc002jqw.2	-	2	957_958	c.867_868insC	c.(865-870)CCCAGCfs	p.P289fs	FOXJ1_uc002jqx.2_Frame_Shift_Ins_p.P289fs|uc002jqy.1_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	forkhead box J1	289_290					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			pancreas(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			AGCAGGGTGCTGGGGGGCCGCG	0.713													G	74133833	-	G	74133832	7	5	94	1	0	1	1	0	0	0	0	0	6011	1580	55	0	401	0	FOXJ1	17	74133832	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	56186	74133832	7061378	2946	62079	296	2									
FOXJ1	2302	broad.mit.edu	37	chr17	74133833	74133834	+	Frame_Shift_Ins	INS	-	-	G													gggtgggcagcagggtgctgINSgggggccgcgggaccttggc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:74133832_74133833T>TG	uc002jqx.3	-	2	1222_1223	c.867_868A>CA	c.(865-870)cccagcfs	p.P289fs	LOC100507218_uc002jqy.2_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	289					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			AGCAGGGTGCTGGGGGGCCGCG	0.713													G	74133834	-	G	74133833	7	5	94	1	0	1	1	0	0	0	0	0	6011	1335	47	0	402	0	FOXJ1	17	74133833	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	74133833	7061377	2947	62080	296	2									
QRICH2	84074	broad.mit.edu	37	chr17	74274105	74274105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcccaggcactgggcgtgCagcagctcgcggattatctg	15	12	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:74274105C>T	uc002jrd.1	-	15	4764	c.4584G>A	c.(4582-4584)CTG>CTA	p.L1528L	QRICH2_uc010wsz.1_Intron|QRICH2_uc010dgw.1_Silent_p.L372L	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1528							protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						ACTGGGCGTGCAGCAGCTCGC	0.622													T	74274105	C	T	74274105	2	4	94	1	0	0	0	0	0	0	0	1	12880	697	25	2		2	QRICH2	17	74274105	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	140272	74274105	6921105	2948	62081											
SPHK1	8877	broad.mit.edu	37	chr17	74383602	74383602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actacttctggatggtcagcGgttgcgtggagcccccgccc	13	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:74383602G>A	uc002jrf.1	+	8	1899	c.1090G>A	c.(1090-1092)GGT>AGT	p.G364S	SPHK1_uc002jrg.1_Missense_Mutation_p.G313S|SPHK1_uc002jrh.2_Missense_Mutation_p.G378S|SPHK1_uc002jrj.2_Missense_Mutation_p.G450S|SPHK1_uc002jri.2_Missense_Mutation_p.G364S|SPHK1_uc002jrk.3_Missense_Mutation_p.G364S|uc010wtd.1_RNA	NM_001142602	NP_001136074	Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1 isoform 3	364					'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			kidney(1)	1						GATGGTCAGCGGTTGCGTGGA	0.617													A	74383602	G	A	74383602	3	1	94	1	0	0	0	0	1	0	0	0	15045	1116	39	1	1412	1	SPHK1	17	74383602	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	109497	74383602	6811608	2949	62082											
TMC8	147138	broad.mit.edu	37	chr17	76137109	76137109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccgtcgtggatgccgcGggactgcgttccccttgccc	12	18	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:76137109G>A	uc002jup.2	+	16	2479	c.2097G>A	c.(2095-2097)GCG>GCA	p.A699A	TMC8_uc002juq.2_Silent_p.A476A	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	699	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			TGGATGCCGCGGGACTGCGTT	0.751									Epidermodysplasia_Verruciformis_Familial_Clustering_of				A	76137109	G	A	76137109	2	1	94	1	0	0	0	0	0	0	0	1	15988	1103	39	1		1	TMC8	17	76137109	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1753507	76137109	5058101	2950	62083											
AFMID	125061	broad.mit.edu	37	chr17	76200813	76200813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatagtggcttacggcatcGcccccaaaggtaataggagt	11	9	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:76200813G>A	uc002jva.3	+	5	400	c.385G>A	c.(385-387)GCC>ACC	p.A129T	AFMID_uc002jvb.3_Intron|AFMID_uc002juz.3_Missense_Mutation_p.A129T	NM_001010982	NP_001010982	Q63HM1	AFMID_HUMAN	arylformamidase isoform 1	129						cytosol|nucleus	arylformamidase activity			large_intestine(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			TTACGGCATCGCCCCCAAAGG	0.587													A	76200813	G	A	76200813	3	1	94	1	0	0	0	0	1	0	0	0	362	1087	38	1	403	1	AFMID	17	76200813	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	63704	76200813	4994397	2951	62084											
DNAH17	8632	broad.mit.edu	37	chr17	76430214	76430214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgggcgccgaacttgcGcctctctgccaccacagcgt	11	18	1	0	rs151281798		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:76430214G>A	uc010dhp.1	-	20	3343	c.3121C>T	c.(3121-3123)CGC>TGC	p.R1041C	DNAH17_uc002jvq.2_Missense_Mutation_p.R326C|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)			CCGAACTTGCGCCTCTCTGCC	0.602													A	76430214	G	A	76430214	3	1	94	1	0	0	0	0	1	0	0	0	4601	1087	38	1	1295	1	DNAH17	17	76430214	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	229401	76430214	4764996	2952	62085											
CYTH1	9267	broad.mit.edu	37	chr17	76677079	76677079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggagtcctccacttcccGgatactcagattctctaaag	7	12	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:76677079G>A	uc002jvw.2	-	11	1005	c.934C>T	c.(934-936)CGG>TGG	p.R312W	CYTH1_uc010wtv.1_RNA	NM_017456	NP_059430	Q15438	CYH1_HUMAN	cytohesin 1 isoform 2	313	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						TCCACTTCCCGGATACTCAGA	0.408													A	76677079	G	A	76677079	3	1	94	1	0	0	0	0	1	0	0	0	4203	1115	39	1	271	1	CYTH1	17	76677079	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	246865	76677079	4518131	2953	62086											
CYTH1	9267	broad.mit.edu	37	chr17	76704344	76704344	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctatctcatccttcagcctCtataaaacagacagtccaga	5	13	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:76704344C>A	uc002jvw.2	-	3	177	c.106_splice	c.e3-1	p.R36_splice	CYTH1_uc010wtw.1_Splice_Site|CYTH1_uc010wtx.1_Splice_Site	NM_017456	NP_059430	Q15438	CYH1_HUMAN	cytohesin 1 isoform 2						regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						CCTTCAGCCTCTATAAAACAG	0.423													A	76704344	C	A	76704344	5	1	94	1	0	0	0	0	0	0	1	0	4203	927	32	5	1135	5	CYTH1	17	76704344	Splice_Site	SNP	C	TCGA-BR-8487-01A-11D-2394-08	27265	76704344	4490866	2954	62087											
ENGASE	64772	broad.mit.edu	37	chr17	77076401	77076401	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtccagatcactcagttTtttcgttttgatggctggct	10	9	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:77076401T>C	uc002jwv.2	+	5	686	c.678T>C	c.(676-678)TTT>TTC	p.F226F	ENGASE_uc002jwu.1_Silent_p.F226F|ENGASE_uc010wtz.1_Silent_p.F40F|ENGASE_uc002jww.2_5'UTR	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	226						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			skin(1)	1						TCACTCAGTTTTTTCGTTTTG	0.607													C	77076401	T	C	77076401	2	2	94	1	0	0	0	0	0	0	0	1	5118	1838	64	3		3	ENGASE	17	77076401	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	372057	77076401	4118809	2955	62088											
CCDC40	55036	broad.mit.edu	37	chr17	78011979	78011979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaagggaataatgaaagCcacatggtaaaattccctat	9	6	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:78011979C>T	uc010dht.2	+	2	114	c.87C>T	c.(85-87)AGC>AGT	p.S29S	TBC1D16_uc002jxj.2_5'Flank|CCDC40_uc010wub.1_Silent_p.S29S	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	29					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATAATGAAAGCCACATGGTAA	0.353													T	78011979	C	T	78011979	2	4	94	1	0	0	0	0	0	0	0	1	2812	738	26	2		2	CCDC40	17	78011979	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	935578	78011979	3183231	2956	62089											
CCDC40	55036	broad.mit.edu	37	chr17	78024074	78024074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagccgccaacgaggagcGcaaaaagtgtaaggcaaccc	12	13	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:78024074G>A	uc010dht.2	+	7	1178	c.1151G>A	c.(1150-1152)CGC>CAC	p.R384H	CCDC40_uc010wub.1_Missense_Mutation_p.R384H|CCDC40_uc002jxm.3_Missense_Mutation_p.R167H	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	384	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AACGAGGAGCGCAAAAAGTGT	0.637													A	78024074	G	A	78024074	3	1	94	1	0	0	0	0	1	0	0	0	2812	1087	38	1	1177	1	CCDC40	17	78024074	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	12095	78024074	3171136	2957	62090											
SLC26A11	284129	broad.mit.edu	37	chr17	78226455	78226455	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcaggagccagggacccaGccctacaacatcagagaaga	12	12	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:78226455G>T	uc002jyb.1	+	18	2030	c.1761G>T	c.(1759-1761)CAG>CAT	p.Q587H	SLC26A11_uc002jyc.1_Missense_Mutation_p.Q587H|SLC26A11_uc002jyd.1_Missense_Mutation_p.Q587H|SLC26A11_uc010dhv.1_Missense_Mutation_p.Q587H	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	solute carrier family 26, member 11	587	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity				0	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CAGGGACCCAGCCCTACAACA	0.512													T	78226455	G	T	78226455	3	4	94	1	0	0	0	0	1	0	0	0	14516	962	34	5	1823	5	SLC26A11	17	78226455	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	202381	78226455	2968755	2958	62091											
RNF213	57674	broad.mit.edu	37	chr17	78337430	78337430	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctggacgcatttgccgcaAtggcctgcacggagatgctg	13	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:78337430A>G	uc002jyh.1	+	16	6032	c.5809A>G	c.(5809-5811)ATG>GTG	p.M1937V	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.M319V	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATTTGCCGCAATGGCCTGCAC	0.632													G	78337430	A	G	78337430	3	3	94	1	0	0	0	0	1	0	0	0	13477	101	4	3	12067	3	RNF213	17	78337430	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	110975	78337430	2857780	2959	62092											
AZI1	22994	broad.mit.edu	37	chr17	79166624	79166624	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcgcccactgctcctGctccaggtgctgctggaacc	11	17	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:79166624G>A	uc002jzp.1	-	19	2550	c.2350C>T	c.(2350-2352)CAG>TAG	p.Q784*	AZI1_uc002jzm.1_Nonsense_Mutation_p.Q211*|AZI1_uc002jzn.1_Nonsense_Mutation_p.Q781*|AZI1_uc002jzo.1_Intron|AZI1_uc010wum.1_Intron|AZI1_uc002jzq.2_Intron	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	784					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			cactgctcctgctccaggtgc	0.557													A	79166624	G	A	79166624	4	1	94	1	0	0	0	0	0	1	0	0	1240	1328	46	2	933	2	AZI1	17	79166624	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	829194	79166624	2028586	2960	62093											
C17orf56	146705	broad.mit.edu	37	chr17	79202746	79202746	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtcaggcgttcaggaacgcGaaagctgacggctctgagcc	15	11	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:79202746G>A	uc002jzu.1	-	12	1582	c.1560C>T	c.(1558-1560)TTC>TTT	p.F520F	C17orf56_uc002jzr.1_Silent_p.F190F|C17orf56_uc002jzs.1_Silent_p.F436F|C17orf56_uc002jzt.1_Silent_p.F436F|C17orf56_uc002jzv.1_Silent_p.F368F|uc002jzw.1_RNA	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	hypothetical protein LOC146705	520						integral to membrane					0	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCAGGAACGCGAAAGCTGACG	0.637													A	79202746	G	A	79202746	2	1	94	1	0	0	0	0	0	0	0	1	1864	1049	37	1		1	C17orf56	17	79202746	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	36122	79202746	1992464	2961	62094											
C17orf56	146705	broad.mit.edu	37	chr17	79207478	79207478	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggctgggagggagccagCggcaacacggtgtccgagaa	18	9	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:79207478C>T	uc002jzu.1	-	6	436	c.414G>A	c.(412-414)CCG>CCA	p.P138P	C17orf56_uc002jzr.1_5'Flank|C17orf56_uc002jzs.1_5'UTR|C17orf56_uc002jzt.1_5'UTR|C17orf56_uc002jzv.1_5'UTR|uc002jzw.1_Intron	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	hypothetical protein LOC146705	138						integral to membrane					0	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGGGAGCCAGCGGCAACACGG	0.657													T	79207478	C	T	79207478	2	4	94	1	0	0	0	0	0	0	0	1	1864	755	27	1		1	C17orf56	17	79207478	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4732	79207478	1987732	2962	62095											
TSPAN10	83882	broad.mit.edu	37	chr17	79615000	79615000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgctgcatcgacccccgCgaagatggagcctctgtcaa	10	15	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:79615000C>T	uc010die.2	+	4	834	c.744C>T	c.(742-744)CGC>CGT	p.R248R	TSPAN10_uc010did.1_RNA	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	tetraspanin 10	248						integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TCGACCCCCGCGAAGATGGAG	0.652													T	79615000	C	T	79615000	2	4	94	1	0	0	0	0	0	0	0	1	16631	755	27	1		1	TSPAN10	17	79615000	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	407522	79615000	1580210	2963	62096											
CCDC137	339230	broad.mit.edu	37	chr17	79639138	79639138	+	Frame_Shift_Del	DEL	C	C	-													ttggtgaggttgtcctgcagCccccagagctgactgccagg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:79639138delC	uc002kbc.3	+	5	649	c.613delC	c.(613-615)CCCfs	p.P205fs	CCDC137_uc002kbd.2_RNA	NM_199287	NP_954981	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	205										central_nervous_system(1)	1	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGTCCTGCAGCCCCCAGAGCT	0.612													-	79639138	C	-	79639138	7	5	94	1	0	1	0	1	0	0	0	0	2771	739	26	0	631	0	CCDC137	17	79639138	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	24138	79639138	1556072	2964	62097											
HGS	9146	broad.mit.edu	37	chr17	79668137	79668137	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagcagccctacatcgcGgggcagcagcccatgtacca	10	18	0	0	rs140803494		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:79668137G>A	uc002kbg.2	+	21	2276	c.2199G>A	c.(2197-2199)GCG>GCA	p.A733A	MRPL12_uc002kbh.1_5'Flank|SLC25A10_uc010wut.1_5'Flank	NM_004712	NP_004703	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine	733	Interaction with NF2.|Gln-rich.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CCTACATCGCGGGGCAGCAGC	0.622													A	79668137	G	A	79668137	2	1	94	1	0	0	0	0	0	0	0	1	7087	1103	39	1		1	HGS	17	79668137	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	28999	79668137	1527073	2965	62098											
DYSFIP1	116729	broad.mit.edu	37	chr17	79792733	79792733	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggatgtggtccaagaacaGgacatcattagggaaacgca	12	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:79792733G>T	uc002kbj.1	-	1	194	c.97C>A	c.(97-99)CTG>ATG	p.L33M	FAM195B_uc010wuy.1_5'Flank|FAM195B_uc010wuz.1_5'Flank|FAM195B_uc002kjd.2_5'Flank|DYSFIP1_uc002kbk.1_Missense_Mutation_p.L33M	NM_001007533	NP_001007534	Q86WC6	DYSI1_HUMAN	dysferlin-interacting protein 1	33											0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.00858)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TCCAAGAACAGGACATCATTA	0.637													T	79792733	G	T	79792733	3	4	94	1	0	0	0	0	1	0	0	0	4860	991	35	5	379	5	DYSFIP1	17	79792733	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	124596	79792733	1402477	2966	62099											
LRRC45	201255	broad.mit.edu	37	chr17	79985564	79985564	+	Frame_Shift_Del	DEL	G	G	-													ccacagggcgtcggcagcccGtgtagggcagcttcaggaag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:79985564delG	uc002kde.2	+	8	1088	c.848delG	c.(847-849)CGTfs	p.R283fs		NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	283	Potential.					centrosome				pancreas(1)	1	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TCGGCAGCCCGTGTAGGGCAG	0.607													-	79985564	G	-	79985564	7	5	94	1	0	1	0	1	0	0	0	0	9002	1145	40	0	878	0	LRRC45	17	79985564	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	192831	79985564	1209646	2967	62100											
FASN	2194	broad.mit.edu	37	chr17	80044984	80044984	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagacaggcacccctcctcCgtgtggggagtgaagcaaaa	12	12	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:80044984C>A	uc002kdu.2	-	21	3486	c.3369G>T	c.(3367-3369)ACG>ACT	p.T1123T	FASN_uc002kdw.1_Silent_p.T339T	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	1123					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	ACCCCTCCTCCGTGTGGGGAG	0.667													A	80044984	C	A	80044984	2	1	94	1	0	0	0	0	0	0	0	1	5683	639	23	5		5	FASN	17	80044984	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	59420	80044984	1150226	2968	62101											
CCDC57	284001	broad.mit.edu	37	chr17	80115690	80115690	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaaggctccgctcccccGtgctgggctatcctgagatg	12	15	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:80115690G>A	uc002kdz.1	-	15	2530	c.2175C>T	c.(2173-2175)CAC>CAT	p.H725H	CCDC57_uc002kdx.1_Silent_p.H725H|CCDC57_uc010dik.1_Silent_p.H233H	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	725										ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CCGCTCCCCCGTGCTGGGCTA	0.677													A	80115690	G	A	80115690	2	1	94	1	0	0	0	0	0	0	0	1	2827	1136	40	1		1	CCDC57	17	80115690	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	70706	80115690	1079520	2969	62102											
SLC16A3	9123	broad.mit.edu	37	chr17	80195293	80195293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgccgcgaccctcccggcGcctgctagacctgagcgtct	12	19	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:80195293G>A	uc002kea.2	+	4	786	c.647G>A	c.(646-648)CGC>CAC	p.R216H	SLC16A3_uc002kee.2_Missense_Mutation_p.R216H|SLC16A3_uc002keb.2_Missense_Mutation_p.R216H|SLC16A3_uc002kec.2_Missense_Mutation_p.R216H|SLC16A3_uc002ked.2_Missense_Mutation_p.R216H	NM_001042422	NP_001035887	O15427	MOT4_HUMAN	solute carrier family 16, member 3	216	Cytoplasmic (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			upper_aerodigestive_tract(1)|lung(1)	2	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	CCCTCCCGGCGCCTGCTAGAC	0.716													A	80195293	G	A	80195293	3	1	94	1	0	0	0	0	1	0	0	0	14409	1087	38	1	657	1	SLC16A3	17	80195293	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	79603	80195293	999917	2970	62103											
FOXK2	3607	broad.mit.edu	37	chr17	80543922	80543922	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcagacggttcacgtcgtCcaccagatcccagcggtgtc	12	14	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:80543922C>T	uc002kfn.2	+	7	1593	c.1422C>T	c.(1420-1422)GTC>GTT	p.V474V	FOXK2_uc002kfm.1_Silent_p.V474V|FOXK2_uc010diu.2_Intron	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	forkhead box K2	474					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TTCACGTCGTCCACCAGATCC	0.652													T	80543922	C	T	80543922	2	4	94	1	0	0	0	0	0	0	0	1	6015	842	30	4		4	FOXK2	17	80543922	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	348629	80543922	651288	2971	62104											
CETN1	1068	broad.mit.edu	37	chr18	580690	580690	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttcctggccgtgatgacGcagaagatgtccgagaagga	14	9	0	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:580690G>A	uc002kko.1	+	1	324	c.282G>A	c.(280-282)ACG>ACA	p.T94T		NM_004066	NP_004057	Q12798	CETN1_HUMAN	centrin 1	94	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			upper_aerodigestive_tract(1)|ovary(1)	2						CCGTGATGACGCAGAAGATGT	0.507													A	580690	G	A	580690	2	1	94	1	0	0	0	0	0	0	0	1	3274	1074	38	1		1	CETN1	18	580690	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08		580690	77496558	2972	62105											
MYL12B	103910	broad.mit.edu	37	chr18	3277796	3277796	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agattacctaagagagctgcTgacaaccatgggggatcggt	13	8	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:3277796T>C	uc010dkl.2	+	4	539	c.380T>C	c.(379-381)CTG>CCG	p.L127P	MYL12B_uc002klt.3_Missense_Mutation_p.L105P|MYL12B_uc010wyv.1_Missense_Mutation_p.L127P	NM_001144944	NP_001138416	O14950	ML12B_HUMAN	myosin regulatory light chain MRCL2 isoform A	127	EF-hand 2.				axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding				0						AGAGAGCTGCTGACAACCATG	0.428													C	3277796	T	C	3277796	3	2	94	1	0	0	0	0	1	0	0	0	10046	1580	55	3	390	3	MYL12B	18	3277796	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2697106	3277796	74799452	2973	62106											
EPB41L3	23136	broad.mit.edu	37	chr18	5489033	5489033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgctgtgcgctgcagcGgcggcgaactgctccagggc	19	12	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:5489033G>A	uc002kmt.1	-	2	236	c.150C>T	c.(148-150)GCC>GCT	p.A50A	EPB41L3_uc010wzh.1_Silent_p.A50A|EPB41L3_uc002kmu.1_Silent_p.A50A|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Silent_p.A72A|EPB41L3_uc002kmv.1_5'UTR	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	50					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GCGCTGCAGCGGCGGCGAACT	0.542													A	5489033	G	A	5489033	2	1	94	1	0	0	0	0	0	0	0	1	5154	1103	39	1		1	EPB41L3	18	5489033	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2211237	5489033	72588215	2974	62107											
L3MBTL4	91133	broad.mit.edu	37	chr18	6241451	6241451	+	Splice_Site	DEL	A	A	-													atttatcttttctataacctAaaaaaagcacagattactca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:6241450_6241450TA>T	uc002kmz.4	-	8	621	c.461_splice	c.e8-1	p.G154_splice	L3MBTL4_uc002kmy.4_Splice_Site_p.G154_splice|L3MBTL4_uc010dkt.3_Splice_Site_p.G154_splice	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	154					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTCTATAACCTAAAAAAAGCA	0.323													-	6241451	A	-	6241451	8	5	94	1	0	1	0	1	0	0	1	0	8594	377	13	0		0	L3MBTL4	18	6241451	Splice_Site	DEL	A	TCGA-BR-8487-01A-11D-2394-08	752418	6241451	71835797	2975	62108											
LAMA1	284217	broad.mit.edu	37	chr18	6995425	6995425	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttcccaggtccttttgcatAttttcttttaataaagattc	4	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:6995425A>T	uc002knm.2	-	34	4921	c.4827T>A	c.(4825-4827)AAT>AAA	p.N1609K	LAMA1_uc010wzj.1_Missense_Mutation_p.N1085K	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1609	Domain II and I.				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)	CCTTTTGCATATTTTCTTTTA	0.353													T	6995425	A	T	6995425	3	4	94	1	0	0	0	0	1	0	0	0	8605	446	16	5	4520	5	LAMA1	18	6995425	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	753974	6995425	71081823	2976	62109											
LAMA1	284217	broad.mit.edu	37	chr18	7037643	7037643	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtctctgcatgaccgcGgtgttgttgatgctgacctg	13	11	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:7037643G>A	uc002knm.2	-	12	1765	c.1671C>T	c.(1669-1671)ACC>ACT	p.T557T	LAMA1_uc010wzj.1_Silent_p.T33T	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	557	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)	GCATGACCGCGGTGTTGTTGA	0.587													A	7037643	G	A	7037643	2	1	94	1	0	0	0	0	0	0	0	1	8605	1103	39	1		1	LAMA1	18	7037643	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	42218	7037643	71039605	2977	62110											
KIAA0802	23255	broad.mit.edu	37	chr18	8825900	8825900	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccccttccagaaggggctGcgggccggcagtcggtctcg	16	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:8825900G>A	uc002knr.2	+	15	4534	c.4392G>A	c.(4390-4392)CTG>CTA	p.L1464L	KIAA0802_uc002knq.2_Silent_p.L1423L|KIAA0802_uc002kns.2_Silent_p.L804L	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1774											0						AGAAGGGGCTGCGGGCCGGCA	0.642													A	8825900	G	A	8825900	2	1	94	1	0	0	0	0	0	0	0	1	8194	1306	46	2		2	KIAA0802	18	8825900	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1788257	8825900	69251348	2978	62111											
PPP4R1	9989	broad.mit.edu	37	chr18	9583131	9583131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacccaacgtgaaggatcaCtgatcaaattaataaaaagt	6	8	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:9583131C>T	uc002koe.1	-	9	1020	c.902G>A	c.(901-903)AGT>AAT	p.S301N	PPP4R1_uc010wzo.1_Intron|PPP4R1_uc002kod.1_Missense_Mutation_p.S284N|PPP4R1_uc010wzp.1_RNA	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	301	HEAT 9.				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			skin(1)	1						TGAAGGATCACTGATCAAATT	0.358													T	9583131	C	T	9583131	3	4	94	1	0	0	0	0	1	0	0	0	12403	565	20	4	1998	4	PPP4R1	18	9583131	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	757231	9583131	68494117	2979	62112											
IMPA2	3613	broad.mit.edu	37	chr18	12014330	12014330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggccggcggggtcggggcGccttctgcaatggccagcgg	20	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:12014330G>A	uc002kqp.1	+	5	662	c.448G>A	c.(448-450)GCC>ACC	p.A150T	IMPA2_uc002kqo.1_5'UTR|IMPA2_uc010dlb.1_Missense_Mutation_p.A134T|IMPA2_uc002kqq.1_Missense_Mutation_p.A30T	NM_014214	NP_055029	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	150					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			skin(2)	2					Lithium(DB01356)	GGGTCGGGGCGCCTTCTGCAA	0.572													A	12014330	G	A	12014330	3	1	94	1	0	0	0	0	1	0	0	0	7723	1087	38	1	466	1	IMPA2	18	12014330	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2431199	12014330	66062918	2980	62113											
CEP192	55125	broad.mit.edu	37	chr18	13068413	13068413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtccaaagaaacagatcaGctcttcaggtatcatgttta	7	8	4	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:13068413G>A	uc010xac.1	+	24	4894	c.4814G>A	c.(4813-4815)AGC>AAC	p.S1605N	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.S1130N|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.S27N|CEP192_uc002krw.2_5'Flank	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1605										ovary(4)|pancreas(1)	5						AAACAGATCAGCTCTTCAGGT	0.308													A	13068413	G	A	13068413	3	1	94	1	0	0	0	0	1	0	0	0	3251	971	34	2	4904	2	CEP192	18	13068413	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1054083	13068413	65008835	2981	62114											
C18orf19	125228	broad.mit.edu	37	chr18	13682035	13682035	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggttccaagcatgtcctGcgtgccagtcgagatacagt	12	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:13682035G>A	uc010dlh.2	-	3	474	c.42C>T	c.(40-42)CGC>CGT	p.R14R	C18orf19_uc010dlg.2_Silent_p.R14R|C18orf19_uc010dli.2_Silent_p.R14R|C18orf19_uc002ksj.3_Silent_p.R14R|C18orf19_uc010dlj.2_Intron	NM_001098801	NP_001092271	Q96ND0	CR019_HUMAN	hypothetical protein LOC125228	14						integral to membrane				breast(2)	2						AGCATGTCCTGCGTGCCAGTC	0.393													A	13682035	G	A	13682035	2	1	94	1	0	0	0	0	0	0	0	1	1896	1306	46	2		2	C18orf19	18	13682035	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	613622	13682035	64395213	2982	62115											
MC2R	4158	broad.mit.edu	37	chr18	13884978	13884978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagcatcagcgggaacagCgacgtgaaggtgatcactgt	13	10	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:13884978C>T	uc002ksp.1	-	2	717	c.540G>A	c.(538-540)TCG>TCA	p.S180S		NM_000529	NP_000520	Q01718	ACTHR_HUMAN	melanocortin 2 receptor	180	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	p.S180L(1)		ovary(4)|skin(1)	5					Corticotropin(DB01285)|Cosyntropin(DB01284)	GCGGGAACAGCGACGTGAAGG	0.572													T	13884978	C	T	13884978	2	4	94	1	0	0	0	0	0	0	0	1	9364	755	27	1		1	MC2R	18	13884978	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	202943	13884978	64192270	2983	62116											
ROCK1	6093	broad.mit.edu	37	chr18	18547719	18547719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagaaaccttaccgcttgCatgtcattcagttccttctg	6	13	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:18547719C>T	uc002kte.2	-	26	4127	c.3186G>A	c.(3184-3186)ATG>ATA	p.M1062I		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	1062	Potential.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					TTACCGCTTGCATGTCATTCA	0.338													T	18547719	C	T	18547719	3	4	94	1	0	0	0	0	1	0	0	0	13517	710	25	2	910	2	ROCK1	18	18547719	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4662741	18547719	59529529	2984	62117											
ROCK1	6093	broad.mit.edu	37	chr18	18564319	18564319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaaagacttacttcgtaaGctgagctaactcaaattcta	5	8	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:18564319G>A	uc002kte.2	-	20	3423	c.2482C>T	c.(2482-2484)CTT>TTT	p.L828F		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	828	Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					TACTTCGTAAGCTGAGCTAAC	0.289													A	18564319	G	A	18564319	3	1	94	1	0	0	0	0	1	0	0	0	13517	971	34	2	1638	2	ROCK1	18	18564319	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	16600	18564319	59512929	2985	62118											
ROCK1	6093	broad.mit.edu	37	chr18	18619444	18619444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaacttactgtctcggagcGtttcccaagcccactggtca	8	13	2	0	rs113763420	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:18619444G>A	uc002kte.2	-	9	1981	c.1040C>T	c.(1039-1041)ACG>ATG	p.T347M		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	347	AGC-kinase C-terminal.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					GTCTCGGAGCGTTTCCCAAGC	0.363													A	18619444	G	A	18619444	3	1	94	1	0	0	0	0	1	0	0	0	13517	1145	40	1	3124	1	ROCK1	18	18619444	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	55125	18619444	59457804	2986	62119											
SNRPD1	6632	broad.mit.edu	37	chr18	19192389	19192389	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagggtgacggcgccgctaGgatgaagctcgtgaggtgag	19	7	0	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:19192389G>T	uc002ktj.1	+	1	130	c.-1G>T	c.(-3-1)TAGGA>TATGA			NM_006938	NP_008869	P62314	SMD1_HUMAN	small nuclear ribonucleoprotein D1 polypeptide						ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding|RNA binding				0						GGCGCCGCTAGGATGAAGCTC	0.627											OREG0024889	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	19192389	G	T	19192389	1	4	94	1	0	0	0	0	0	0	0	0	14864	1015	35	5		5	SNRPD1	18	19192389	Translation_Start_Site	SNP	G	TCGA-BR-8487-01A-11D-2394-08	572945	19192389	58884859	2987	62120											
ANKRD29	147463	broad.mit.edu	37	chr18	21218839	21218839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctaaattcagtggatgctcCaaatccaaagagaaatctca	6	10	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:21218839C>T	uc002kun.2	-	4	461	c.304G>A	c.(304-306)GGA>AGA	p.G102R	ANKRD29_uc002kuo.2_Missense_Mutation_p.G102R	NM_173505	NP_775776	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	102	ANK 3.									ovary(3)|breast(1)	4	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTGGATGCTCCAAATCCAAAG	0.428													T	21218839	C	T	21218839	3	4	94	1	0	0	0	0	1	0	0	0	657	603	21	4	629	4	ANKRD29	18	21218839	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2026450	21218839	56858409	2988	62121											
OSBPL1A	114876	broad.mit.edu	37	chr18	21761173	21761173	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtaagtatgctccatgTattcagttaggcgctgtagg	13	6	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:21761173T>C	uc002kve.2	-	19	1922	c.1748A>G	c.(1747-1749)TAC>TGC	p.Y583C	OSBPL1A_uc002kvd.2_Missense_Mutation_p.Y70C|OSBPL1A_uc010xbc.1_Missense_Mutation_p.Y201C	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	583					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					ATGCTCCATGTATTCAGTTAG	0.428													C	21761173	T	C	21761173	3	2	94	1	0	0	0	0	1	0	0	0	11277	1638	57	3	1144	3	OSBPL1A	18	21761173	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	542334	21761173	56316075	2989	62122											
IMPACT	55364	broad.mit.edu	37	chr18	22007894	22007894	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctttcagaatgaggaaatTgaagcaatggcagccattta	9	6	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:22007894T>C	uc002kvh.3	+	2	160	c.48T>C	c.(46-48)ATT>ATC	p.I16I	IMPACT_uc002kvg.3_5'UTR	NM_018439	NP_060909	Q9P2X3	IMPCT_HUMAN	Impact homolog	16	RWD.										0	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					ATGAGGAAATTGAAGCAATGG	0.323													C	22007894	T	C	22007894	2	2	94	1	0	0	0	0	0	0	0	1	7724	1800	63	3		3	IMPACT	18	22007894	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	246721	22007894	56069354	2990	62123											
DSG1	1828	broad.mit.edu	37	chr18	28914054	28914054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaattgatttggatgaagaGttctcagctaactggatggc	12	5	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:28914054G>A	uc002kwp.2	+	8	1106	c.894G>A	c.(892-894)GAG>GAA	p.E298E		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	298	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGGATGAAGAGTTCTCAGCTA	0.308													A	28914054	G	A	28914054	2	1	94	1	0	0	0	0	0	0	0	1	4776	1020	36	4		4	DSG1	18	28914054	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	6906160	28914054	49163194	2991	62124											
DSG2	1829	broad.mit.edu	37	chr18	29122692	29122692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtttacaggggccacaggCgctatcatgaccactgaaac	10	12	1	2	rs74578148	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:29122692C>T	uc002kwu.3	+	14	2399	c.2211C>T	c.(2209-2211)GGC>GGT	p.G737G	uc002kwv.3_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	737	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GGGCCACAGGCGCTATCATGA	0.547													T	29122692	C	T	29122692	2	4	94	1	0	0	0	0	0	0	0	1	4777	755	27	1		1	DSG2	18	29122692	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	208638	29122692	48954556	2992	62125											
DSG2	1829	broad.mit.edu	37	chr18	29126573	29126573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgacggctaggaacaccaCggtgtctggagctggagtcc	14	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:29126573C>T	uc002kwu.3	+	15	3412	c.3224C>T	c.(3223-3225)ACG>ATG	p.T1075M	uc002kwv.3_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	1075	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGGAACACCACGGTGTCTGGA	0.478													T	29126573	C	T	29126573	3	4	94	1	0	0	0	0	1	0	0	0	4777	536	19	1	3282	1	DSG2	18	29126573	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3881	29126573	48950675	2993	62126											
RNF138	51444	broad.mit.edu	37	chr18	29693731	29693731	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaattctatcgcatgagacaTcattacaaatcttgtaagaa	5	7	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:29693731T>C	uc002kxg.2	+	4	739	c.300T>C	c.(298-300)CAT>CAC	p.H100H	RNF138_uc002kxh.2_Intron	NM_016271	NP_057355	Q8WVD3	RN138_HUMAN	ring finger protein 138 isoform 1	100					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding				0						GCATGAGACATCATTACAAAT	0.294													C	29693731	T	C	29693731	2	2	94	1	0	0	0	0	0	0	0	1	13441	1432	50	3		3	RNF138	18	29693731	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	567158	29693731	48383517	2994	62127											
KLHL14	57565	broad.mit.edu	37	chr18	30260437	30260437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagaggctgtggcaaagagGacacatagcgccattcattc	11	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:30260437G>A	uc002kxm.1	-	6	1752	c.1364C>T	c.(1363-1365)TCC>TTC	p.S455F	KLHL14_uc010dmd.1_Missense_Mutation_p.P3S	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	455	Kelch 3.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						TGGCAAAGAGGACACATAGCG	0.453													A	30260437	G	A	30260437	3	1	94	1	0	0	0	0	1	0	0	0	8370	1174	41	4	538	4	KLHL14	18	30260437	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	566706	30260437	47816811	2995	62128											
KLHL14	57565	broad.mit.edu	37	chr18	30349862	30349862	+	Frame_Shift_Del	DEL	G	G	-													agcgccagctccgactccacGgggggcggcagcgagtccag					rs147661052		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:30349862delG	uc002kxm.1	-	2	1081	c.693delC	c.(691-693)CCCfs	p.P231fs		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	231	BACK.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						CCGACTCCACGGGGGGCGGCA	0.642													-	30349862	G	-	30349862	7	5	94	1	0	1	0	1	0	0	0	0	8370	1103	39	0	1225	0	KLHL14	18	30349862	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	89425	30349862	47727386	2996	62129											
RPRD1A	55197	broad.mit.edu	37	chr18	33613688	33613688	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccttgaaacatgcttaaaAgcctccactataactggtgc	6	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:33613688A>G	uc002kzf.1	-	2	270	c.264T>C	c.(262-264)GCT>GCC	p.A88A	RPRD1A_uc002kze.1_Silent_p.A52A|RPRD1A_uc002kzg.2_Silent_p.A88A|RPRD1A_uc010dmw.2_Silent_p.A52A|RPRD1A_uc010dmx.2_Silent_p.A88A	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing	88	CID.									ovary(1)|breast(1)	2						CATGCTTAAAAGCCTCCACTA	0.358													G	33613688	A	G	33613688	2	3	94	1	0	0	0	0	0	0	0	1	13615	59	3	3		3	RPRD1A	18	33613688	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	3263826	33613688	44463560	2997	62130											
MOCOS	55034	broad.mit.edu	37	chr18	33785130	33785130	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagtaccccaatggagcccCtgtggtgcggatttacagcg	12	13	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:33785130C>A	uc002kzq.3	+	6	1132	c.1109C>A	c.(1108-1110)CCT>CAT	p.P370H		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	370					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	AATGGAGCCCCTGTGGTGCGG	0.493													A	33785130	C	A	33785130	3	1	94	1	0	0	0	0	1	0	0	0	9689	681	24	5	1131	5	MOCOS	18	33785130	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	171442	33785130	44292118	2998	62131											
FHOD3	80206	broad.mit.edu	37	chr18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-													gcgatgagaccacggagccaCcccccagtgggtgccgggac							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:34205516delC	uc002kzt.1	+	10	1097	c.1000delC	c.(1000-1002)CCCfs	p.P334fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P334fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P334fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P159fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P87fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	334	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACGGAGCCACCCCCCAGTGG	0.677													-	34205516	C	-	34205516	7	5	94	1	0	1	0	1	0	0	0	0	5883	507	18	0	1038	0	FHOD3	18	34205516	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	420386	34205516	43871732	2999	62132											
FHOD3	80206	broad.mit.edu	37	chr18	34349257	34349257	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttcctggactatgggaactGatgactcgcccaatgtcaca	10	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:34349257G>A	uc002kzt.1	+	23	4151	c.4054G>A	c.(4054-4056)GAT>AAT	p.D1352N	FHOD3_uc002kzs.1_Missense_Mutation_p.D1369N|FHOD3_uc010dmz.1_Missense_Mutation_p.D1084N|FHOD3_uc010dnb.1_Silent_p.L289L	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1352					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TATGGGAACTGATGACTCGCC	0.483													A	34349257	G	A	34349257	3	1	94	1	0	0	0	0	1	0	0	0	5883	1290	45	4	4199	4	FHOD3	18	34349257	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	143741	34349257	43727991	3000	62133											
CELF4	56853	broad.mit.edu	37	chr18	34853000	34853000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggttggggtcataggtgCggccgccaggccattcatgt	16	9	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:34853000C>T	uc002lae.2	-	7	1324	c.928G>A	c.(928-930)GCA>ACA	p.A310T	CELF4_uc010dnd.1_Missense_Mutation_p.A308T|CELF4_uc002lag.2_Missense_Mutation_p.A300T|CELF4_uc002laf.2_Missense_Mutation_p.A305T|CELF4_uc002lai.2_Missense_Mutation_p.A295T|CELF4_uc002lah.1_Missense_Mutation_p.A35T|CELF4_uc002laj.1_Missense_Mutation_p.R145H	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	310	Ala-rich.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						GTCATAGGTGCGGCCGCCAGG	0.657													T	34853000	C	T	34853000	3	4	94	1	0	0	0	0	1	0	0	0	3218	768	27	1	556	1	CELF4	18	34853000	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	503743	34853000	43224248	3001	62134											
SLC14A1	6563	broad.mit.edu	37	chr18	43311062	43311062	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaacaaccccgtcagtggAatcctgattctggtaggact	10	11	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:43311062A>G	uc010xcn.1	+	5	553	c.234A>G	c.(232-234)GGA>GGG	p.G78G	SLC14A1_uc010dnk.2_Silent_p.G134G|SLC14A1_uc002lbf.3_Silent_p.G78G|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_5'UTR|SLC14A1_uc002lbh.3_Intron|SLC14A1_uc002lbi.3_Intron|SLC14A1_uc002lbj.3_Silent_p.G134G|SLC14A1_uc002lbk.3_Silent_p.G78G	NM_001146036	NP_001139508	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter),	78	Helical; (Potential).					integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|pancreas(1)	2						CCGTCAGTGGAATCCTGATTC	0.552													G	43311062	A	G	43311062	2	3	94	1	0	0	0	0	0	0	0	1	14396	233	9	3		3	SLC14A1	18	43311062	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	8458062	43311062	34766186	3002	62135											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260339	44260339	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgcggcgattcgaagtcgTccagcacgtacttgacgcgg	13	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:44260339T>C	uc002lcj.1	-	7	1365	c.797A>G	c.(796-798)GAC>GGC	p.D266G	ST8SIA5_uc002lci.1_Missense_Mutation_p.D113G|ST8SIA5_uc010xcy.1_Missense_Mutation_p.D302G|ST8SIA5_uc010xcz.1_Missense_Mutation_p.D235G	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	266	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						TTCGAAGTCGTCCAGCACGTA	0.612													C	44260339	T	C	44260339	3	2	94	1	0	0	0	0	1	0	0	0	15234	1667	58	3	337	3	ST8SIA5	18	44260339	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	949277	44260339	33816909	3003	62136											
ZBTB7C	201501	broad.mit.edu	37	chr18	45567076	45567077	+	Frame_Shift_Ins	INS	-	-	C													tcctccttgtcatcctcctcINSccccccgtcccccccaggct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:45567075_45567076T>TC	uc010dnv.3	-	2	905_906	c.469_470A>GA	c.(469-471)gagfs	p.E157fs	ZBTB7C_uc002ldb.3_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010dnu.3_Frame_Shift_Ins_p.E144fs|ZBTB7C_uc010dnw.3_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010dnx.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010dny.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010dnz.1_Frame_Shift_Ins_p.E157fs|ZBTB7C_uc010doi.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010doj.1_Frame_Shift_Ins_p.E144fs|ZBTB7C_uc010dok.1_Frame_Shift_Ins_p.E184fs|ZBTB7C_uc010dol.1_Frame_Shift_Ins_p.E144fs|ZBTB7C_uc010doa.1_Frame_Shift_Ins_p.E157fs|ZBTB7C_uc010dob.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010doc.1_Frame_Shift_Ins_p.E144fs|ZBTB7C_uc010dod.1_Frame_Shift_Ins_p.E157fs|ZBTB7C_uc010doe.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010dof.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010dog.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010doh.1_Frame_Shift_Ins_p.E144fs|ZBTB7C_uc010dom.1_Frame_Shift_Ins_p.E144fs|ZBTB7C_uc010don.1_Frame_Shift_Ins_p.E143fs|ZBTB7C_uc010dop.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010doq.1_Frame_Shift_Ins_p.E144fs|ZBTB7C_uc010dor.1_Frame_Shift_Ins_p.E157fs|ZBTB7C_uc010dos.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010dot.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010doo.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010dou.1_Frame_Shift_Ins_p.E144fs	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	135	Asp-rich.|Glu-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						gtcatcctcctcccccccgtcc	0.574													C	45567077	-	C	45567076	7	5	94	1	0	1	1	0	0	0	0	0	17552	864	30	0	1464	0	ZBTB7C	18	45567076	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1306737	45567076	32510172	3004	62137											
KIAA0427	9811	broad.mit.edu	37	chr18	46287929	46287929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagatgctgggcgagatcGtgcgcacaatctaccagaag	14	9	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:46287929G>A	uc002ldc.2	+	9	1525	c.1240G>A	c.(1240-1242)GTG>ATG	p.V414M	KIAA0427_uc002ldd.2_Missense_Mutation_p.V416M|KIAA0427_uc002lde.3_Missense_Mutation_p.V43M	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	414	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						GGGCGAGATCGTGCGCACAAT	0.597													A	46287929	G	A	46287929	3	1	94	1	0	0	0	0	1	0	0	0	8176	1145	40	1	1276	1	KIAA0427	18	46287929	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	720853	46287929	31789319	3005	62138											
LIPG	9388	broad.mit.edu	37	chr18	47110024	47110024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctcacctgggagggggCctctcagtcttggtacaacc	12	14	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:47110024C>T	uc002ldv.2	+	8	1508	c.1256C>T	c.(1255-1257)GCC>GTC	p.A419V	LIPG_uc010xdh.1_Missense_Mutation_p.A345V	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	endothelial lipase precursor	419	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			ovary(1)|skin(1)	2						TGGGAGGGGGCCTCTCAGTCT	0.587													T	47110024	C	T	47110024	3	4	94	1	0	0	0	0	1	0	0	0	8823	739	26	2	1286	2	LIPG	18	47110024	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	822095	47110024	30967224	3006	62139											
MYO5B	4645	broad.mit.edu	37	chr18	47463722	47463722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcccaggggtggtggcagGaacagggtccttgtcatcat	14	10	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:47463722G>A	uc002leb.2	-	15	2086	c.1798C>T	c.(1798-1800)CCT>TCT	p.P600S	MYO5B_uc002lec.1_Missense_Mutation_p.P599S	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	600	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		GTGGTGGCAGGAACAGGGTCC	0.502													A	47463722	G	A	47463722	3	1	94	1	0	0	0	0	1	0	0	0	10079	1174	41	4	3852	4	MYO5B	18	47463722	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	353698	47463722	30613526	3007	62140											
MBD1	4152	broad.mit.edu	37	chr18	47800112	47800112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcgtgtagccaaggtgGgcttcaaggtagggccaaga	16	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:47800112G>A	uc010dow.1	-	12	1705	c.1268C>T	c.(1267-1269)CCC>CTC	p.P423L	MBD1_uc002lef.2_Missense_Mutation_p.P174L|MBD1_uc002leg.2_Missense_Mutation_p.P373L|MBD1_uc010xdi.1_Missense_Mutation_p.P474L|MBD1_uc002leh.3_Missense_Mutation_p.P367L|MBD1_uc002len.2_Missense_Mutation_p.P423L|MBD1_uc002lei.3_Missense_Mutation_p.P423L|MBD1_uc002lej.3_Missense_Mutation_p.P367L|MBD1_uc002lek.3_Missense_Mutation_p.P374L|MBD1_uc002lel.3_Missense_Mutation_p.P400L|MBD1_uc002lem.3_Missense_Mutation_p.P423L|MBD1_uc010xdj.1_Missense_Mutation_p.P367L|MBD1_uc010xdk.1_Missense_Mutation_p.P448L|MBD1_uc010dox.1_Missense_Mutation_p.P400L|MBD1_uc002leo.2_Missense_Mutation_p.P423L	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	423					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						AGCCAAGGTGGGCTTCAAGGT	0.627													A	47800112	G	A	47800112	3	1	94	1	0	0	0	0	1	0	0	0	9342	1232	43	4	763	4	MBD1	18	47800112	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	336390	47800112	30277136	3008	62141											
CXXC1	30827	broad.mit.edu	37	chr18	47811498	47811498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccttgactgttgatgaCgccactgccccctcatcttc	8	16	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:47811498C>T	uc002leq.3	-	7	1519	c.786G>A	c.(784-786)GCG>GCA	p.A262A	CXXC1_uc002lep.3_Silent_p.A119A|CXXC1_uc002ler.3_Silent_p.A262A|CXXC1_uc010doy.2_Silent_p.A262A|CXXC1_uc002les.2_Silent_p.A262A	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	262	Asp/Glu-rich (acidic).				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CTGTTGATGACGCCACTGCCC	0.602													T	47811498	C	T	47811498	2	4	94	1	0	0	0	0	0	0	0	1	4097	523	19	1		1	CXXC1	18	47811498	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	11386	47811498	30265750	3009	62142											
ELAC1	55520	broad.mit.edu	37	chr18	48513066	48513066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaatggggttacaatttctCcccaagatgtcttaaaaaag	7	7	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:48513066C>T	uc002lez.2	+	4	809	c.703C>T	c.(703-705)CCC>TCC	p.P235S	SMAD4_uc010xdo.1_Intron	NM_018696	NP_061166	Q9H777	RNZ1_HUMAN	elaC homolog 1	235					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding				0		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		TACAATTTCTCCCCAAGATGT	0.423													T	48513066	C	T	48513066	3	4	94	1	0	0	0	0	1	0	0	0	5046	855	30	4	713	4	ELAC1	18	48513066	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	701568	48513066	29564182	3010	62143											
SMAD4	4089	broad.mit.edu	37	chr18	48603108	48603108	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccgtggcaggaaacatccCtggcccaggatcagtaggtg	14	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:48603108C>A	uc010xdp.1	+	11	1947	c.1409C>A	c.(1408-1410)CCT>CAT	p.P470H	SMAD4_uc002lfb.3_Missense_Mutation_p.P315H	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	470	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(2)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGAAACATCCCTGGCCCAGGA	0.463									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				A	48603108	C	A	48603108	3	1	94	1	0	0	0	0	1	0	0	0	14760	681	24	5	1447	5	SMAD4	18	48603108	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	90042	48603108	29474140	3011	62144											
STARD6	147323	broad.mit.edu	37	chr18	51880423	51880423	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatagaagattgtactcaCagatttccatggaattttct	6	6	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:51880423C>T	uc010xdt.1	-	2	140	c.140_splice	c.e2+1	p.L47_splice		NM_139171	NP_631910	P59095	STAR6_HUMAN	START domain containing protein 6						lipid transport		lipid binding			ovary(1)	1				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		ATTGTACTCACAGATTTCCAT	0.299													T	51880423	C	T	51880423	5	4	94	1	0	0	0	0	0	0	1	0	15260	492	17	4	540	4	STARD6	18	51880423	Splice_Site	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3277315	51880423	26196825	3012	62145											
RAB27B	5874	broad.mit.edu	37	chr18	52556537	52556537	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttggacttaatcatgaagCgaatggaacagtgtgtggag	13	4	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:52556537C>T	uc002lfr.2	+	6	661	c.550C>T	c.(550-552)CGA>TGA	p.R184*		NM_004163	NP_004154	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	184					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity				0				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		AATCATGAAGCGAATGGAACA	0.418													T	52556537	C	T	52556537	4	4	94	1	0	0	0	0	0	1	0	0	12915	760	27	1	568	1	RAB27B	18	52556537	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	676114	52556537	25520711	3013	62146											
ONECUT2	9480	broad.mit.edu	37	chr18	55103818	55103818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctgcggccatgatgtcGcacctgaacggcctgcacca	10	17	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:55103818G>A	uc002lgo.2	+	1	902	c.870G>A	c.(868-870)TCG>TCA	p.S290S		NM_004852	NP_004843	O95948	ONEC2_HUMAN	one cut domain, family member 2	290					organ morphogenesis	nucleus	sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CCATGATGTCGCACCTGAACG	0.701													A	55103818	G	A	55103818	2	1	94	1	0	0	0	0	0	0	0	1	10869	1074	38	1		1	ONECUT2	18	55103818	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2547281	55103818	22973430	3014	62147											
ALPK2	115701	broad.mit.edu	37	chr18	56203450	56203450	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaagacttctccaatgTacactgatggtgggctcttc	10	9	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:56203450T>C	uc002lhj.3	-	5	4183	c.3969A>G	c.(3967-3969)GTA>GTG	p.V1323V	ALPK2_uc002lhk.1_Silent_p.V654V	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1323							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						TTCTCCAATGTACACTGATGG	0.507													C	56203450	T	C	56203450	2	2	94	1	0	0	0	0	0	0	0	1	545	1625	57	3		3	ALPK2	18	56203450	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1099632	56203450	21873798	3015	62148											
ALPK2	115701	broad.mit.edu	37	chr18	56204901	56204901	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaccttctgccagttccgTatctacagagcaaatttctt	6	11	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:56204901T>C	uc002lhj.3	-	5	2732	c.2518A>G	c.(2518-2520)ACG>GCG	p.T840A	ALPK2_uc002lhk.1_Missense_Mutation_p.T171A	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	840							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						GCCAGTTCCGTATCTACAGAG	0.393													C	56204901	T	C	56204901	3	2	94	1	0	0	0	0	1	0	0	0	545	1638	57	3	4030	3	ALPK2	18	56204901	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1451	56204901	21872347	3016	62149											
GRP	2922	broad.mit.edu	37	chr18	56892894	56892894	+	Missense_Mutation	SNP	C	C	A													agccacctcaacccaaggccCtgggcaatcagcagccttcg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:56892894C>A	uc002lhv.2	+	2	408	c.310C>A	c.(310-312)CTG>ATG	p.L104M	GRP_uc002lhu.2_Missense_Mutation_p.L104M|GRP_uc002lhw.2_Missense_Mutation_p.L104M	NM_002091	NP_002082	P07492	GRP_HUMAN	gastrin-releasing peptide isoform 1	104					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity				0		Colorectal(73;0.0946)				ACCCAAGGCCCTGGGCAATCA	0.488													A	56892894	C	A	56892894	3	1	94	1	0	0	0	0	1	0	0	0	6805	680	24	5	316	5	GRP	18	56892894	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	687993	56892894	21184354	3017	62150	297	2									
GRP	2922	broad.mit.edu	37	chr18	56892898	56892898	+	Missense_Mutation	SNP	G	G	A													acctcaacccaaggccctggGcaatcagcagccttcgtggg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:56892898G>A	uc002lhv.2	+	2	412	c.314G>A	c.(313-315)GGC>GAC	p.G105D	GRP_uc002lhu.2_Missense_Mutation_p.G105D|GRP_uc002lhw.2_Missense_Mutation_p.G105D	NM_002091	NP_002082	P07492	GRP_HUMAN	gastrin-releasing peptide isoform 1	105					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity				0		Colorectal(73;0.0946)				AAGGCCCTGGGCAATCAGCAG	0.488													A	56892898	G	A	56892898	3	1	94	1	0	0	0	0	1	0	0	0	6805	1203	42	2	320	2	GRP	18	56892898	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4	56892898	21184350	3018	62151	297	2									
CPLX4	339302	broad.mit.edu	37	chr18	56964004	56964004	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctttttcttttatggTatccaagtccatgttctgga	9	8	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:56964004T>C	uc002lhy.2	-	3	596	c.409A>G	c.(409-411)ACC>GCC	p.T137A		NM_181654	NP_857637	Q7Z7G2	CPLX4_HUMAN	complexin 4 precursor	137					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			ovary(1)	1		Colorectal(73;0.175)				TCTTTTATGGTATCCAAGTCC	0.468													C	56964004	T	C	56964004	3	2	94	1	0	0	0	0	1	0	0	0	3807	1638	57	3	77	3	CPLX4	18	56964004	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	71106	56964004	21113244	3019	62152											
CDH20	28316	broad.mit.edu	37	chr18	59206373	59206373	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgagaacgccaaggcaGgacaggtaaggtggcctgtg	16	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:59206373G>T	uc010dps.1	+	8	1537	c.1525G>T	c.(1525-1527)GGA>TGA	p.G509*	CDH20_uc002lif.2_Nonsense_Mutation_p.G503*	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	509	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				CGCCAAGGCAGGACAGGTAAG	0.448													T	59206373	G	T	59206373	4	4	94	1	0	0	0	0	0	1	0	0	3106	1001	35	5	1555	5	CDH20	18	59206373	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2242369	59206373	18870875	3020	62153											
BCL2	596	broad.mit.edu	37	chr18	60985558	60985558	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggtgcagctggctggacatCtcggcgaagtcgcggcggta	17	10	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:60985558C>A	uc002lit.1	-	2	835	c.342G>T	c.(340-342)GAG>GAT	p.E114D	BCL2_uc002liu.1_Missense_Mutation_p.E114D|BCL2_uc002liv.1_Missense_Mutation_p.E114D	NM_000633	NP_000624	P10415	BCL2_HUMAN	B-cell lymphoma protein 2 alpha isoform	114					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)	1		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	GGCTGGACATCTCGGCGAAGT	0.662			T	IGH@	NHL|CLL								A	60985558	C	A	60985558	3	1	94	1	0	0	0	0	1	0	0	0	1365	912	32	5	418	5	BCL2	18	60985558	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1779185	60985558	17091690	3021	62154											
SERPINB12	89777	broad.mit.edu	37	chr18	61228376	61228376	+	Frame_Shift_Del	DEL	A	A	-													gattgaaagtgttgatttccAaaaaaaccctgaaaaatcca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:61228375_61228375CA>C	uc010xeo.2	+	3	502	c.502_502CA>C	c.(502-504)caafs	p.Q168fs	SERPINB12_uc010xen.2_Frame_Shift_Del_p.Q148fs	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	148					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.Q167K(1)|p.G168G(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TGTTGATTTCCAAAAAAACCC	0.388													-	61228376	A	-	61228376	7	5	94	1	0	1	0	1	0	0	0	0	14099	130	5	0	457	0	SERPINB12	18	61228376	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	242818	61228376	16848872	3022	62155											
SERPINB11	89778	broad.mit.edu	37	chr18	61390517	61390517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccactggggacagcatcGctgtaaaaagcctaccaatg	10	12	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:61390517G>A	uc002ljk.3	+	9	1125	c.1063G>A	c.(1063-1065)GCT>ACT	p.A355T	SERPINB11_uc010xes.1_Missense_Mutation_p.A180T|SERPINB11_uc010dqd.2_Intron|SERPINB11_uc002ljj.3_Missense_Mutation_p.A241T|SERPINB11_uc010dqe.2_Missense_Mutation_p.A154T|SERPINB11_uc010dqf.2_Missense_Mutation_p.A153T	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B, member 11	355	RCL (By similarity).				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)	1		Esophageal squamous(42;0.129)				GGACAGCATCGCTGTAAAAAG	0.498													A	61390517	G	A	61390517	3	1	94	1	0	0	0	0	1	0	0	0	14098	1087	38	1	1089	1	SERPINB11	18	61390517	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	162141	61390517	16686731	3023	62156											
ZNF516	9658	broad.mit.edu	37	chr18	74091570	74091570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacctgagtgcgggtgaaccGagcaaggagcaaaggctggc	16	10	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:74091570G>A	uc010dqx.1	-	3	2735	c.2500C>T	c.(2500-2502)CGG>TGG	p.R834W	ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	834					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CGGGTGAACCGAGCAAGGAGC	0.592													A	74091570	G	A	74091570	3	1	94	1	0	0	0	0	1	0	0	0	17957	1057	37	1	1008	1	ZNF516	18	74091570	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	12701053	74091570	3985678	3024	62157											
ZNF236	7776	broad.mit.edu	37	chr18	74592217	74592217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggagtcggggcagtcccCgcagcctgggcagcagctga	18	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:74592217C>T	uc002lmi.2	+	8	1325	c.1127C>T	c.(1126-1128)CCG>CTG	p.P376L	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.P376L	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	376					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGGCAGTCCCCGCAGCCTGGG	0.652													T	74592217	C	T	74592217	3	4	94	1	0	0	0	0	1	0	0	0	17786	652	23	1	1157	1	ZNF236	18	74592217	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	500647	74592217	3485031	3025	62158											
ZNF236	7776	broad.mit.edu	37	chr18	74639294	74639294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctattggctcagcagctcaCgggggagcctggcctggccc	14	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:74639294C>T	uc002lmi.2	+	24	4427	c.4229C>T	c.(4228-4230)ACG>ATG	p.T1410M	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1410					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAGCAGCTCACGGGGGAGCCT	0.552													T	74639294	C	T	74639294	3	4	94	1	0	0	0	0	1	0	0	0	17786	536	19	1	4323	1	ZNF236	18	74639294	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	47077	74639294	3437954	3026	62159											
ZNF236	7776	broad.mit.edu	37	chr18	74668077	74668077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaaggaggtgcatggccGggagcgcatccacggctgcc	16	13	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:74668077G>A	uc002lmi.2	+	28	5243	c.5045G>A	c.(5044-5046)CGG>CAG	p.R1682Q	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1682					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GTGCATGGCCGGGAGCGCATC	0.687													A	74668077	G	A	74668077	3	1	94	1	0	0	0	0	1	0	0	0	17786	1116	39	1	5155	1	ZNF236	18	74668077	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	28783	74668077	3409171	3027	62160											
SALL3	27164	broad.mit.edu	37	chr18	76754387	76754387	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgagcagctacgatgacgAcatggacgagaactccatgg	12	11	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:76754387A>G	uc002lmt.2	+	2	2396	c.2396A>G	c.(2395-2397)GAC>GGC	p.D799G	SALL3_uc010dra.2_Missense_Mutation_p.D406G	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	799				DDDMDE -> NDNLDK (in Ref. 2; CAB65124).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TACGATGACGACATGGACGAG	0.662													G	76754387	A	G	76754387	3	3	94	1	0	0	0	0	1	0	0	0	13812	275	10	3	2402	3	SALL3	18	76754387	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	2086310	76754387	1322861	3028	62161											
SALL3	27164	broad.mit.edu	37	chr18	76757282	76757282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagccagccgcccattcaCgcggtttatcgaggataaca	10	13	1	0	rs144491707		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:76757282C>T	uc002lmt.2	+	3	3863	c.3863C>T	c.(3862-3864)ACG>ATG	p.T1288M	SALL3_uc010dra.2_Missense_Mutation_p.T823M	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	1288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGCCCATTCACGCGGTTTATC	0.562													T	76757282	C	T	76757282	3	4	94	1	0	0	0	0	1	0	0	0	13812	536	19	1	3873	1	SALL3	18	76757282	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2895	76757282	1319966	3029	62162											
KCNG2	26251	broad.mit.edu	37	chr18	77623816	77623816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcgcctgcgcgcctgccGcggccacgacgacctgctgc	15	18	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:77623816G>A	uc010xfl.1	+	1	149	c.149G>A	c.(148-150)CGC>CAC	p.R50H		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	50	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CGCGCCTGCCGCGGCCACGAC	0.716													A	77623816	G	A	77623816	3	1	94	1	0	0	0	0	1	0	0	0	8028	1087	38	1	151	1	KCNG2	18	77623816	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	866534	77623816	453432	3030	62163											
KCNG2	26251	broad.mit.edu	37	chr18	77623926	77623926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcgtggcgcttttgcgcGcagggaagctgcgactgctg	15	12	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:77623926G>A	uc010xfl.1	+	1	259	c.259G>A	c.(259-261)GCA>ACA	p.A87T		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	87	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GCTTTTGCGCGCAGGGAAGCT	0.706													A	77623926	G	A	77623926	3	1	94	1	0	0	0	0	1	0	0	0	8028	1087	38	1	261	1	KCNG2	18	77623926	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	110	77623926	453322	3031	62164											
KCNG2	26251	broad.mit.edu	37	chr18	77659196	77659196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgacatcctggcgctcctgCcgttctacgtgtcgctgctg	11	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:77659196C>T	uc010xfl.1	+	2	781	c.781C>T	c.(781-783)CCG>TCG	p.P261S		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	261	Helical; Name=Segment S3; (Potential).				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GGCGCTCCTGCCGTTCTACGT	0.697													T	77659196	C	T	77659196	3	4	94	1	0	0	0	0	1	0	0	0	8028	739	26	2	787	2	KCNG2	18	77659196	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	35270	77659196	418052	3032	62165											
KCNG2	26251	broad.mit.edu	37	chr18	77659756	77659756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggacagctcgcagggcccCgacagcgcgggcctggccga	17	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:77659756C>T	uc010xfl.1	+	2	1341	c.1341C>T	c.(1339-1341)CCC>CCT	p.P447P		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	447	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CGCAGGGCCCCGACAGCGCGG	0.761													T	77659756	C	T	77659756	2	4	94	1	0	0	0	0	0	0	0	1	8028	639	23	1		1	KCNG2	18	77659756	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	560	77659756	417492	3033	62166											
C18orf22	79863	broad.mit.edu	37	chr18	77804249	77804249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcgcagactttggaccccGggatgaaagagacaactttg	12	9	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:77804249G>A	uc002lns.2	+	6	752	c.614G>A	c.(613-615)CGG>CAG	p.R205Q	C18orf22_uc010drh.2_Missense_Mutation_p.G177R|C18orf22_uc010dri.1_Intron|C18orf22_uc002lnt.2_Missense_Mutation_p.R38Q|uc002lnu.2_5'Flank	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	hypothetical protein LOC79863 precursor	205					rRNA processing	mitochondrion					0		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)		TTTGGACCCCGGGATGAAAGA	0.378													A	77804249	G	A	77804249	3	1	94	1	0	0	0	0	1	0	0	0	1898	1116	39	1	636	1	C18orf22	18	77804249	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	144493	77804249	272999	3034	62167											
ADNP2	22850	broad.mit.edu	37	chr18	77894261	77894261	+	Frame_Shift_Del	DEL	C	C	-													ccctggaagcctcactcattCcccccctgctgctggccaat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:77894260_77894260TC>T	uc002lnw.3	+	3	1419	c.964_964TC>T	c.(964-966)tccfs	p.S322fs		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	322	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A325fs*59(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CCTCACTCATTCCCCCCCTGC	0.642													-	77894261	C	-	77894261	7	5	94	1	0	1	0	1	0	0	0	0	324	855	30	0	975	0	ADNP2	18	77894261	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	90012	77894261	182987	3035	62168											
PARD6G	84552	broad.mit.edu	37	chr18	77960807	77960807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagagaaccttcggaattcCgccccaaactacaatgcaag	8	12	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:77960807C>T	uc002lny.2	-	2	247	c.81G>A	c.(79-81)GCG>GCA	p.A27A	PARD6G_uc010xfp.1_Silent_p.A27A	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	PAR-6 gamma protein	27	OPR.				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding				0		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		TTCGGAATTCCGCCCCAAACT	0.453													T	77960807	C	T	77960807	2	4	94	1	0	0	0	0	0	0	0	1	11447	639	23	1		1	PARD6G	18	77960807	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	66546	77960807	116441	3036	62169											
HCN2	610	broad.mit.edu	37	chr19	610372	610372	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatgtttgacgaggacagCatcctgggcgagctcaacgg	14	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:610372C>T	uc002lpe.2	+	5	1604	c.1551C>T	c.(1549-1551)AGC>AGT	p.S517S		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic	517	Cytoplasmic (Potential).				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGAGGACAGCATCCTGGGCG	0.552													T	610372	C	T	610372	2	4	94	1	0	0	0	0	0	0	0	1	6997	709	25	2		2	HCN2	19	610372	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08		610372	58518611	3037	62170											
MED16	10025	broad.mit.edu	37	chr19	876999	876999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggcagcggtctggcgcGtgtactcctcgtgcagcttc	15	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:876999G>A	uc002lqd.1	-	9	1686	c.1535C>T	c.(1534-1536)ACG>ATG	p.T512M	MED16_uc010drw.1_Missense_Mutation_p.T337M|MED16_uc002lqe.2_Missense_Mutation_p.T501M|MED16_uc002lqf.2_Missense_Mutation_p.T501M|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Intron|MED16_uc010xfx.1_Missense_Mutation_p.T357M|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	512					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCTGGCGCGTGTACTCCTC	0.697													A	876999	G	A	876999	3	1	94	1	0	0	0	0	1	0	0	0	9434	1145	40	1	1130	1	MED16	19	876999	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	266627	876999	58251984	3038	62171											
HMHA1	23526	broad.mit.edu	37	chr19	1068656	1068656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagggtgccggcccggacGtcgtcgaggacatctcccat	14	15	1	0	rs138476769		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:1068656G>A	uc002lqz.1	+	2	565	c.334G>A	c.(334-336)GTC>ATC	p.V112I	HMHA1_uc010xgd.1_Missense_Mutation_p.V128I|HMHA1_uc010xge.1_Intron|HMHA1_uc002lra.1_5'UTR|HMHA1_uc002lrb.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	112					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCCCGGACGTCGTCGAGGA	0.692													A	1068656	G	A	1068656	3	1	94	1	0	0	0	0	1	0	0	0	7240	1145	40	1	340	1	HMHA1	19	1068656	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	191657	1068656	58060327	3039	62172											
ATP5D	513	broad.mit.edu	37	chr19	1241936	1241936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgaggccgccgccgccccGgctgccgcctctggccccaa	13	22	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:1241936G>A	uc002lrn.2	+	1	188	c.87G>A	c.(85-87)CCG>CCA	p.P29P	ATP5D_uc002lro.2_Silent_p.P29P	NM_001001975	NP_001001975	P30049	ATPD_HUMAN	ATP synthase, H+ transporting, mitochondrial F1	29					mitochondrial ATP synthesis coupled proton transport|oxidative phosphorylation|respiratory electron transport chain|response to copper ion	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ccgccgccccggctgccgccT	0.328													A	1241936	G	A	1241936	2	1	94	1	0	0	0	0	0	0	0	1	1150	1103	39	1		1	ATP5D	19	1241936	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	173280	1241936	57887047	3040	62173											
MIDN	90007	broad.mit.edu	37	chr19	1254338	1254338	+	Frame_Shift_Del	DEL	C	C	-													gggggaccccagcatagcctCccccgtgtcctcgccctgcc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:1254338delC	uc002lrp.2	+	5	1072	c.557delC	c.(556-558)TCCfs	p.S186fs		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	186						nucleolus					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCATAGCCTCCCCCGTGTCC	0.761													-	1254338	C	-	1254338	7	5	94	1	0	1	0	1	0	0	0	0	9579	855	30	0	571	0	MIDN	19	1254338	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	12402	1254338	57874645	3041	62174											
APC2	10297	broad.mit.edu	37	chr19	1468912	1468912	+	Frame_Shift_Del	DEL	C	C	-													gcccgcccgcctcgccaagaCcccctcctccagctcctccc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:1468912delC	uc002lsr.1	+	15	5820	c.5612delC	c.(5611-5613)ACCfs	p.T1871fs	APC2_uc002lss.1_Frame_Shift_Del_p.T1453fs|APC2_uc002lst.1_Frame_Shift_Del_p.T1871fs|APC2_uc002lsu.1_Frame_Shift_Del_p.T1870fs|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1871	Pro-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCGCCAAGACCCCCTCCTCC	0.761													-	1468912	C	-	1468912	7	5	94	1	0	1	0	1	0	0	0	0	764	507	18	0	5666	0	APC2	19	1468912	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	214574	1468912	57660071	3042	62175											
PCSK4	54760	broad.mit.edu	37	chr19	1483346	1483346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagatctccaggtctccgCgccggctgtaggacagcgtc	14	14	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:1483346C>T	uc002ltb.1	-	12	1570	c.1508G>A	c.(1507-1509)CGC>CAC	p.R503H	PCSK4_uc002lsz.2_5'UTR|PCSK4_uc002lta.2_Missense_Mutation_p.R315H	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	503					proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGTCTCCGCGCCGGCTGTA	0.672													T	1483346	C	T	1483346	3	4	94	1	0	0	0	0	1	0	0	0	11602	768	27	1	775	1	PCSK4	19	1483346	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	14434	1483346	57645637	3043	62176											
MEX3D	399664	broad.mit.edu	37	chr19	1556759	1556759	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacccccggccttgctgcgCgtggcgcggatgatggagaa	16	12	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:1556759C>T	uc010dsn.2	-	2	759	c.759G>A	c.(757-759)ACG>ACA	p.T253T		NM_203304	NP_976049	Q86XN8	MEX3D_HUMAN	ring finger and KH domain containing 1	253					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTGCTGCGCGTGGCGCGGA	0.706													T	1556759	C	T	1556759	2	4	94	1	0	0	0	0	0	0	0	1	9512	755	27	1		1	MEX3D	19	1556759	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	73413	1556759	57572224	3044	62177											
BTBD2	55643	broad.mit.edu	37	chr19	1986508	1986508	+	Frame_Shift_Del	DEL	G	G	-													taggtgtagaagatgacctcGgggatctggccgtcctccac							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:1986507_1986507CG>C	uc002lup.1	-	8	1558	c.1558_1558CG>G	c.(1558-1560)gagfs	p.E520fs	BTBD2_uc002luo.1_Frame_Shift_Del_p.E199fs	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	Homo sapiens BTB (POZ) domain containing 2 (BTBD2), mRNA.	520						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGATGACCTCGGGGATCTGG	0.662													-	1986508	G	-	1986508	7	5	94	1	0	1	0	1	0	0	0	0	1543	1103	39	0	24	0	BTBD2	19	1986508	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	429749	1986508	57142475	3045	62178											
BTBD2	55643	broad.mit.edu	37	chr19	1993130	1993130	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttggcggtgtatagcgtggtCatcaccgtctccgggccaat	13	11	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:1993130C>T	uc002lup.1	-	3	573	c.573G>A	c.(571-573)ATG>ATA	p.M191I	BTBD2_uc002luo.1_5'Flank	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	191						cytoplasmic mRNA processing body	protein binding			ovary(1)|skin(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATAGCGTGGTCATCACCGTCT	0.637													T	1993130	C	T	1993130	3	4	94	1	0	0	0	0	1	0	0	0	1543	826	29	4	1032	4	BTBD2	19	1993130	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	6622	1993130	57135853	3046	62179											
MKNK2	2872	broad.mit.edu	37	chr19	2041092	2041092	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcagcctctgcttggCgtcacggaccagcagcttgg	13	14	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:2041092C>A	uc002lus.2	-	12	1302	c.1057G>T	c.(1057-1059)GCC>TCC	p.A353S	MKNK2_uc002luq.1_Missense_Mutation_p.A97S|MKNK2_uc010xgu.1_Missense_Mutation_p.A192S|MKNK2_uc010xgv.1_Missense_Mutation_p.A222S|MKNK2_uc002lur.2_Missense_Mutation_p.A353S|MKNK2_uc002lut.1_Missense_Mutation_p.A97S	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	MAP kinase-interacting serine/threonine kinase 2	353	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(1)|breast(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTGCTTGGCGTCACGGACC	0.652													A	2041092	C	A	2041092	3	1	94	1	0	0	0	0	1	0	0	0	9605	768	27	5	447	5	MKNK2	19	2041092	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	47962	2041092	57087891	3047	62180											
SPPL2B	56928	broad.mit.edu	37	chr19	2353174	2353174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgggaccaggcccagccGtccccggtaacccagcctgg	14	18	0	0	rs144490639	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:2353174G>A	uc002lvs.2	+	16	1826	c.1746G>A	c.(1744-1746)CCG>CCA	p.P582P	SPPL2B_uc002lvr.2_3'UTR	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	signal peptide peptidase-like 2B isoform 2	582						Golgi membrane|integral to membrane	aspartic-type endopeptidase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCCCAGCCGTCCCCGGTAA	0.711													A	2353174	G	A	2353174	2	1	94	1	0	0	0	0	0	0	0	1	15088	1132	40	1		1	SPPL2B	19	2353174	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	312082	2353174	56775809	3048	62181											
DIRAS1	148252	broad.mit.edu	37	chr19	2717476	2717476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacggggatgtcctccacgCtgcccttgatctgcacgatg	11	14	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:2717476C>T	uc002lwf.3	-	2	487	c.329G>A	c.(328-330)AGC>AAC	p.S110N		NM_145173	NP_660156	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	110					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCTCCACGCTGCCCTTGAT	0.642													T	2717476	C	T	2717476	3	4	94	1	0	0	0	0	1	0	0	0	4530	797	28	2	271	2	DIRAS1	19	2717476	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	364302	2717476	56411507	3049	62182											
SLC39A3	29985	broad.mit.edu	37	chr19	2733400	2733400	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagctgctccaggaagacGgtcatgaagaagcccagcag	12	11	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:2733400G>A	uc002lwg.2	-	3	548	c.294C>T	c.(292-294)ACC>ACT	p.T98T	SLC39A3_uc010xgy.1_Silent_p.T98T	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter),	98	Helical; (Potential).					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGAAGACGGTCATGAAGA	0.632													A	2733400	G	A	2733400	2	1	94	1	0	0	0	0	0	0	0	1	14619	1103	39	1		1	SLC39A3	19	2733400	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	15924	2733400	56395583	3050	62183											
SLC39A3	29985	broad.mit.edu	37	chr19	2737117	2737118	+	Frame_Shift_Del	DEL	AG	AG	-													ccctcctccaaaggtgttgcAgagagagaggatctttttcg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:2737117_2737118delAG	uc002lwg.2	-	2	392_393	c.138_139delCT	c.(136-141)CTCTGCfs	p.L46fs	SLC39A3_uc010xgy.1_Frame_Shift_Del_p.L46fs|SLC39A3_uc002lwh.2_Frame_Shift_Del_p.L46fs	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter),	46_47	Helical; (Potential).					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGTGTTGCAGAGAGAGAGGA	0.569													-	2737118	AG	-	2737117	7	5	94	1	0	1	0	1	0	0	0	0	14619	188	7	0	921	0	SLC39A3	19	2737117	Frame_Shift_Del	DEL	AG	TCGA-BR-8487-01A-11D-2394-08	3717	2737117	56391866	3051	62184											
ZNF556	80032	broad.mit.edu	37	chr19	2877612	2877612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcgttcccactctctcaCtgaacatgtaaggactcaca	5	14	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:2877612C>T	uc002lwp.1	+	4	743	c.656C>T	c.(655-657)ACT>ATT	p.T219I	ZNF556_uc002lwq.2_Missense_Mutation_p.T218I	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	219	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTCTCTCACTGAACATGTA	0.498													T	2877612	C	T	2877612	3	4	94	1	0	0	0	0	1	0	0	0	17984	565	20	4	670	4	ZNF556	19	2877612	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	140495	2877612	56251371	3052	62185											
ZNF77	58492	broad.mit.edu	37	chr19	2933649	2933649	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccacattcagtacattcGtagggtttgaccccactgtg	8	12	1	1	rs34789013	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:2933649G>A	uc002lws.3	-	4	1607	c.1476C>T	c.(1474-1476)TAC>TAT	p.Y492Y		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	zinc finger protein 77	492	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTACATTCGTAGGGTTTGA	0.498													A	2933649	G	A	2933649	2	1	94	1	0	0	0	0	0	0	0	1	18139	1140	40	1		1	ZNF77	19	2933649	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	56037	2933649	56195334	3053	62186											
TLE6	79816	broad.mit.edu	37	chr19	2993498	2993498	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggccaatggccagcagtgGctgcaaagcaccagcgggag	15	11	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:2993498G>A	uc002lwu.2	+	14	1486	c.1086G>A	c.(1084-1086)TGG>TGA	p.W362*	TLE6_uc002lwt.2_Nonsense_Mutation_p.W485*|TLE6_uc010dtg.2_Nonsense_Mutation_p.W485*|TLE6_uc002lwv.2_Nonsense_Mutation_p.W266*	NM_024760	NP_079036	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 isoform 2	362	WD 5.				regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGCAGTGGCTGCAAAGCA	0.617													A	2993498	G	A	2993498	4	1	94	1	0	0	0	0	0	1	0	0	15939	1212	42	2	1509	2	TLE6	19	2993498	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	59849	2993498	56135485	3054	62187											
TJP3	27134	broad.mit.edu	37	chr19	3740615	3740615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcgggcccggctcctccgCgggctccaatgctcgggccg	15	17	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:3740615C>T	uc010xhv.1	+	13	1796	c.1796C>T	c.(1795-1797)GCG>GTG	p.A599V	TJP3_uc010xhs.1_Missense_Mutation_p.A566V|TJP3_uc010xht.1_Missense_Mutation_p.A530V|TJP3_uc010xhu.1_Missense_Mutation_p.A575V|TJP3_uc010xhw.1_Missense_Mutation_p.A585V	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	580						tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTCCTCCGCGGGCTCCAAT	0.672													T	3740615	C	T	3740615	3	4	94	1	0	0	0	0	1	0	0	0	15928	768	27	1	1846	1	TJP3	19	3740615	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	747117	3740615	55388368	3055	62188											
MATK	4145	broad.mit.edu	37	chr19	3778509	3778509	+	Splice_Site	DEL	T	T	-													cctgggacccccgctcaccaTtttagggtacggagcccgtc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:3778508_3778508AT>A	uc002lyt.3	-	13	1684	c.1284_splice	c.e13+1	p.M428_splice	MATK_uc002lyv.3_Splice_Site_p.M429_splice|MATK_uc002lyu.3_Splice_Site_p.M387_splice|MATK_uc010dtq.3_Splice_Site_p.M427_splice	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	428	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGCTCACCATTTTAGGGTA	0.627													-	3778509	T	-	3778509	8	5	94	1	0	1	0	1	0	0	1	0	9332	1493	52	0	249	0	MATK	19	3778509	Splice_Site	DEL	T	TCGA-BR-8487-01A-11D-2394-08	37894	3778509	55350474	3056	62189											
MAP2K2	5605	broad.mit.edu	37	chr19	4117561	4117561	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgagaaaggcttccagCcgcttcttctgctgctcgtc	12	12	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:4117561C>T	uc002lzk.2	-	2	413	c.159G>A	c.(157-159)CGG>CGA	p.R53R		NM_030662	NP_109587	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	53					activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCTTCCAGCCGCTTCTTCT	0.597									Cardiofaciocutaneous_syndrome				T	4117561	C	T	4117561	2	4	94	1	0	0	0	0	0	0	0	1	9237	726	26	2		2	MAP2K2	19	4117561	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	339052	4117561	55011422	3057	62190											
SIRT6	51548	broad.mit.edu	37	chr19	4180893	4180893	+	Frame_Shift_Del	DEL	G	G	-													ccttccgctccagctcctccGgggggtcgaagatctgtggg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:4180892_4180892CG>C	uc002lzo.3	-	1	141	c.81_81CG>G	c.(79-81)ccgfs	p.P27fs	ANKRD24_uc010dtt.1_5'Flank|SIRT6_uc002lzq.3_Frame_Shift_Del_p.P27fs|SIRT6_uc002lzp.3_Frame_Shift_Del_p.P27fs|SIRT6_uc010xid.2_Intron|SIRT6_uc002lzr.3_Intron	NM_016539	NP_057623	Q8N6T7	SIRT6_HUMAN	Homo sapiens sirtuin 6 (SIRT6), transcript variant 1, mRNA.	27					chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCTCCTCCGGGGGGTCGA	0.637													-	4180893	G	-	4180893	7	5	94	1	0	1	0	1	0	0	0	0	14342	1116	39	0	1015	0	SIRT6	19	4180893	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	63332	4180893	54948090	3058	62191											
CCDC94	55702	broad.mit.edu	37	chr19	4262085	4262085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcagccagcccttcggCccaaccccaccgccatcctg	7	23	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:4262085C>T	uc002lzv.3	+	6	715	c.682C>T	c.(682-684)CCC>TCC	p.P228S		NM_018074	NP_060544	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	228											0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		AGCCCTTCGGCCCAACCCCAC	0.632													T	4262085	C	T	4262085	3	4	94	1	0	0	0	0	1	0	0	0	2873	739	26	2	704	2	CCDC94	19	4262085	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	81192	4262085	54866898	3059	62192											
MPND	84954	broad.mit.edu	37	chr19	4357345	4357345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatctctgcaggacatcgaCgcacagatggactaccagct	9	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:4357345C>T	uc002mae.2	+	9	1159	c.1092C>T	c.(1090-1092)GAC>GAT	p.D364D	MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Silent_p.D314D|MPND_uc002maf.2_Silent_p.D364D|MPND_uc002mah.2_Silent_p.D252D|MPND_uc002mai.2_Silent_p.D223D	NM_032868	NP_116257	Q8N594	MPND_HUMAN	MPN domain containing isoform 1	364	MPN.						peptidase activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGACATCGACGCACAGATGG	0.672													T	4357345	C	T	4357345	2	4	94	1	0	0	0	0	0	0	0	1	9731	535	19	1		1	MPND	19	4357345	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	95260	4357345	54771638	3060	62193											
UBXN6	80700	broad.mit.edu	37	chr19	4446124	4446124	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcagctcaaaaggcagCcagtcgctctgcagggcctc	12	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:4446124C>T	uc002man.1	-	10	1218	c.1122G>A	c.(1120-1122)TGG>TGA	p.W374*	UBXN6_uc010dty.1_Nonsense_Mutation_p.W278*|UBXN6_uc002mam.1_Nonsense_Mutation_p.W321*	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	374	UBX.					microtubule organizing center|nucleus	protein binding				0						CAAAAGGCAGCCAGTCGCTCT	0.687													T	4446124	C	T	4446124	4	4	94	1	0	0	0	0	0	1	0	0	16914	740	26	2	211	2	UBXN6	19	4446124	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	88779	4446124	54682859	3061	62194											
HDGFRP2	84717	broad.mit.edu	37	chr19	4475282	4475282	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcactgcagatcgacgacaTcgcggatggcgccgtgaagc	13	13	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:4475282T>A	uc002mao.2	+	2	176	c.83T>A	c.(82-84)ATC>AAC	p.I28N	HDGFRP2_uc002map.2_Missense_Mutation_p.I28N|HDGFRP2_uc010dtz.1_5'Flank	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	hepatoma-derived growth factor-related protein 2	28	PWWP.				transcription, DNA-dependent	nucleus	DNA binding|protein binding				0						ATCGACGACATCGCGGATGGC	0.552													A	4475282	T	A	4475282	3	1	94	1	0	0	0	0	1	0	0	0	7020	1435	50	5	89	5	HDGFRP2	19	4475282	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	29158	4475282	54653701	3062	62195											
PLIN4	729359	broad.mit.edu	37	chr19	4508874	4508874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgttcaaatgcccgctggCggaagctgggacccaggtca	14	12	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:4508874C>T	uc002mar.1	-	4	3566	c.3566G>A	c.(3565-3567)CGC>CAC	p.R1189H	PLIN4_uc010dub.1_Missense_Mutation_p.R213H	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	1189						lipid particle|plasma membrane					0						TGCCCGCTGGCGGAAGCTGGG	0.627													T	4508874	C	T	4508874	3	4	94	1	0	0	0	0	1	0	0	0	12092	768	27	1	519	1	PLIN4	19	4508874	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	33592	4508874	54620109	3063	62196											
SEMA6B	10501	broad.mit.edu	37	chr19	4550840	4550840	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacctgatcctccggcacCggcgtccagatggactcggg	14	15	0	2	rs150994490	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:4550840C>T	uc010duc.1	-	10	1130	c.1092G>A	c.(1090-1092)CCG>CCA	p.P364P	SEMA6B_uc010dud.2_Silent_p.P364P|SEMA6B_uc010xih.1_Silent_p.P364P	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	364	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCGGCACCGGCGTCCAGA	0.657													T	4550840	C	T	4550840	2	4	94	1	0	0	0	0	0	0	0	1	14040	639	23	1		1	SEMA6B	19	4550840	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	41966	4550840	54578143	3064	62197											
PTPRS	5802	broad.mit.edu	37	chr19	5215591	5215591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgcgatgggaattggcGggtggctaagcatgcctaca	15	8	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:5215591G>A	uc002mbv.2	-	27	4346	c.4112C>T	c.(4111-4113)CCG>CTG	p.P1371L	PTPRS_uc002mbu.1_Missense_Mutation_p.P940L|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Missense_Mutation_p.P1333L|PTPRS_uc002mbx.2_Missense_Mutation_p.P928L|PTPRS_uc002mby.2_Missense_Mutation_p.P924L	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1371	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGGAATTGGCGGGTGGCTAAG	0.667													A	5215591	G	A	5215591	3	1	94	1	0	0	0	0	1	0	0	0	12811	1116	39	1	1782	1	PTPRS	19	5215591	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	664751	5215591	53913392	3065	62198											
PTPRS	5802	broad.mit.edu	37	chr19	5231469	5231469	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggggatgccgttcacctcCttgggttccgggtcctctga	15	12	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:5231469C>A	uc002mbv.2	-	14	2241	c.2007G>T	c.(2005-2007)AAG>AAT	p.K669N	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Missense_Mutation_p.K656N|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	669	Extracellular (Potential).|Fibronectin type-III 4.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CGTTCACCTCCTTGGGTTCCG	0.662													A	5231469	C	A	5231469	3	1	94	1	0	0	0	0	1	0	0	0	12811	680	24	5	3939	5	PTPRS	19	5231469	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	15878	5231469	53897514	3066	62199											
PTPRS	5802	broad.mit.edu	37	chr19	5244243	5244243	+	Frame_Shift_Del	DEL	G	G	-													cgggtgaccacggactcgctGgggggcccctggccgatgga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:5244243delG	uc002mbv.2	-	11	1473	c.1239delC	c.(1237-1239)CCCfs	p.P413fs	PTPRS_uc002mbu.1_Frame_Shift_Del_p.P400fs|PTPRS_uc010xin.1_Frame_Shift_Del_p.P400fs|PTPRS_uc002mbw.2_Frame_Shift_Del_p.P400fs|PTPRS_uc002mbx.2_Frame_Shift_Del_p.P404fs|PTPRS_uc002mby.2_Frame_Shift_Del_p.P400fs	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	413	Fibronectin type-III 1.|Extracellular (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CGGACTCGCTGGGGGGCCCCT	0.677													-	5244243	G	-	5244243	7	5	94	1	0	1	0	1	0	0	0	0	12811	1335	47	0	4719	0	PTPRS	19	5244243	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	12774	5244243	53884740	3067	62200											
ZNRF4	148066	broad.mit.edu	37	chr19	5455562	5455562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagggtcccagtggccgcGtcactgcctctgagccacgc	13	16	2	1	rs147873454	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:5455562G>A	uc002mca.3	+	1	137	c.60G>A	c.(58-60)GCG>GCA	p.A20A		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	20						integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CAGTGGCCGCGTCACTGCCTC	0.662													A	5455562	G	A	5455562	2	1	94	1	0	0	0	0	0	0	0	1	18211	1132	40	1		1	ZNRF4	19	5455562	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	211319	5455562	53673421	3068	62201											
ZNRF4	148066	broad.mit.edu	37	chr19	5455855	5455855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactttgcggatctgccggCgctgttcggcgtccccctgg	15	14	1	0	rs149951234	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:5455855C>T	uc002mca.3	+	1	430	c.353C>T	c.(352-354)GCG>GTG	p.A118V		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	118	Extracellular (Potential).					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GATCTGCCGGCGCTGTTCGGC	0.687													T	5455855	C	T	5455855	3	4	94	1	0	0	0	0	1	0	0	0	18211	768	27	1	355	1	ZNRF4	19	5455855	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	293	5455855	53673128	3069	62202											
PRR22	163154	broad.mit.edu	37	chr19	5783603	5783603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgggcccagggaagtggcCgaggtgaccctggaggtggc	19	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:5783603C>T	uc002mdb.1	-	1	1008	c.649G>A	c.(649-651)GGC>AGC	p.G217S	PRR22_uc010xiv.1_Missense_Mutation_p.G219S	NM_153359	NP_699190	Q8IZ63	PRR22_HUMAN	proline rich 22 isoform 2	217	Pro-rich.										0						GGGAAGTGGCCGAGGTGACCC	0.701													T	5783603	C	T	5783603	3	4	94	1	0	0	0	0	1	0	0	0	12593	652	23	1	617	1	PRR22	19	5783603	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	327748	5783603	53345380	3070	62203											
DUS3L	56931	broad.mit.edu	37	chr19	5785436	5785436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctggctggccatcagcGtctccaggtagtcgcggccc	12	16	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:5785436G>A	uc002mdc.2	-	12	1935	c.1838C>T	c.(1837-1839)ACG>ATG	p.T613M	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Missense_Mutation_p.T371M|DUS3L_uc010duk.2_Missense_Mutation_p.T278M	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like isoform 1	613					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0						GGCCATCAGCGTCTCCAGGTA	0.706													A	5785436	G	A	5785436	3	1	94	1	0	0	0	0	1	0	0	0	4807	1145	40	1	122	1	DUS3L	19	5785436	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1833	5785436	53343547	3071	62204											
DUS3L	56931	broad.mit.edu	37	chr19	5787151	5787151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgctcctggacgcctgtgCggatcttcacagtcagcggc	12	15	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:5787151C>T	uc002mdc.2	-	8	1407	c.1310G>A	c.(1309-1311)CGC>CAC	p.R437H	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Missense_Mutation_p.R195H|DUS3L_uc010duk.2_Missense_Mutation_p.R102H	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like isoform 1	437					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0						GACGCCTGTGCGGATCTTCAC	0.478													T	5787151	C	T	5787151	3	4	94	1	0	0	0	0	1	0	0	0	4807	768	27	1	666	1	DUS3L	19	5787151	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1715	5787151	53341832	3072	62205											
FUT5	2527	broad.mit.edu	37	chr19	5867333	5867333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcggcctggtggggggcGggaggttggcactggggttg	23	8	0	0	rs139667433		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:5867333G>A	uc002mdo.3	-	2	492	c.404C>T	c.(403-405)CCG>CTG	p.P135L	FUT5_uc010duo.2_Missense_Mutation_p.P135L	NM_002034	NP_002025	Q11128	FUT5_HUMAN	fucosyltransferase 5	135	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity				0						GGTGGGGGGCGGGAGGTTGGC	0.627													A	5867333	G	A	5867333	3	1	94	1	0	0	0	0	1	0	0	0	6107	1116	39	1	724	1	FUT5	19	5867333	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	80182	5867333	53261650	3073	62206											
RANBP3	8498	broad.mit.edu	37	chr19	5917974	5917974	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggctgcatacaactgaccTgtgtccttggagctggcctg	13	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:5917974T>C	uc002mdw.2	-	16	1718	c.1491A>G	c.(1489-1491)ACA>ACG	p.T497T	RANBP3_uc002mdv.2_Silent_p.T216T|RANBP3_uc002mdx.2_Silent_p.T492T|RANBP3_uc002mdy.2_Silent_p.T429T|RANBP3_uc002mdz.2_Silent_p.T424T|RANBP3_uc010duq.2_Silent_p.T402T|RANBP3_uc002mea.2_Silent_p.T364T|RANBP3_uc010xix.1_Silent_p.T369T	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	497	RanBD1.				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1						ACAACTGACCTGTGTCCTTGG	0.662													C	5917974	T	C	5917974	2	2	94	1	0	0	0	0	0	0	0	1	13029	1567	55	3		3	RANBP3	19	5917974	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	50641	5917974	53211009	3074	62207											
MLLT1	4298	broad.mit.edu	37	chr19	6222213	6222213	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcccggggctcactctcGgccttcaccttctcccctct	7	21	5	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:6222213G>A	uc002mek.2	-	6	1193	c.1029C>T	c.(1027-1029)GCC>GCT	p.A343A		NM_005934	NP_005925	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	343					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			skin(1)	1						GCTCACTCTCGGCCTTCACCT	0.647			T	MLL	AL								A	6222213	G	A	6222213	2	1	94	1	0	0	0	0	0	0	0	1	9625	1103	39	1		1	MLLT1	19	6222213	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	304239	6222213	52906770	3075	62208											
MLLT1	4298	broad.mit.edu	37	chr19	6270614	6270614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgggcttggggaagctgtCgtgcagccagaagaccacct	14	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:6270614C>T	uc002mek.2	-	2	333	c.169G>A	c.(169-171)GAC>AAC	p.D57N		NM_005934	NP_005925	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	57	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			skin(1)	1						GGGAAGCTGTCGTGCAGCCAG	0.627			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	6270614	C	T	6270614	3	4	94	1	0	0	0	0	1	0	0	0	9625	884	31	1	1554	1	MLLT1	19	6270614	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	48401	6270614	52858369	3076	62209											
GTF2F1	2962	broad.mit.edu	37	chr19	6380696	6380696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggcatctcgctcacccGcttccctgtgggagtggggt	14	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:6380696G>A	uc002meq.2	-	12	1522	c.1237C>T	c.(1237-1239)CGG>TGG	p.R413W	GTF2F1_uc010xjb.1_Missense_Mutation_p.R234W|GTF2F1_uc010xjc.1_Missense_Mutation_p.R328W	NM_002096	NP_002087	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1,	413					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding				0						TCGCTCACCCGCTTCCCTGTG	0.652													A	6380696	G	A	6380696	3	1	94	1	0	0	0	0	1	0	0	0	6858	1086	38	1	324	1	GTF2F1	19	6380696	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	110082	6380696	52748287	3077	62210											
DENND1C	79958	broad.mit.edu	37	chr19	6468317	6468317	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggtctcaggctgcctgcGctcttggctcccatgctaag	11	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:6468317G>A	uc002mfe.2	-	22	1811	c.1719C>T	c.(1717-1719)AGC>AGT	p.S573S	DENND1C_uc002mfb.2_Silent_p.S123S|DENND1C_uc002mfc.2_Silent_p.S123S|DENND1C_uc002mfd.2_Silent_p.S123S|DENND1C_uc010xje.1_Silent_p.S529S	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	573						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1						GGCTGCCTGCGCTCTTGGCTC	0.582													A	6468317	G	A	6468317	2	1	94	1	0	0	0	0	0	0	0	1	4428	1078	38	1		1	DENND1C	19	6468317	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	87621	6468317	52660666	3078	62211											
TUBB4	10382	broad.mit.edu	37	chr19	6495185	6495185	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgggagcagcctaggccaccTcctcctccgcctcctcctcg	9	20	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:6495185T>A	uc002mfg.1	-	4	1432	c.1325A>T	c.(1324-1326)GAG>GTG	p.E442V	TUBB4_uc002mff.1_Missense_Mutation_p.E370V|MIR220B_hsa-mir-220b|MI0005529_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	442					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		CTAGGCCACCTCCTCCTCCGC	0.627													A	6495185	T	A	6495185	3	1	94	1	0	0	0	0	1	0	0	0	16755	1551	54	5	13	5	TUBB4	19	6495185	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	26868	6495185	52633798	3079	62212											
TUBB4	10382	broad.mit.edu	37	chr19	6496124	6496124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagctggaagccctgaaggCagtcgcagctctcggcctcc	12	15	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:6496124C>T	uc002mfg.1	-	4	493	c.386G>A	c.(385-387)TGC>TAC	p.C129Y	TUBB4_uc002mff.1_Missense_Mutation_p.C57Y	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	129					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		GCCCTGAAGGCAGTCGCAGCT	0.662													T	6496124	C	T	6496124	3	4	94	1	0	0	0	0	1	0	0	0	16755	710	25	2	952	2	TUBB4	19	6496124	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	939	6496124	52632859	3080	62213											
GPR108	56927	broad.mit.edu	37	chr19	6732167	6732167	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggccacgttggccaggacCtgcgcaggcggcgggggtgg	20	11	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:6732167C>A	uc002mfp.2	-	13	1172	c.1126_splice	c.e13-1	p.V376_splice	GPR108_uc010duv.2_Splice_Site|GPR108_uc002mfn.2_Splice_Site_p.V47_splice|GPR108_uc002mfo.3_Splice_Site_p.V134_splice|GPR108_uc010duw.2_Splice_Site	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108 isoform 1							integral to membrane					0						TGGCCAGGACCTGCGCAGGCG	0.667													A	6732167	C	A	6732167	5	1	94	1	0	0	0	0	0	0	1	0	6624	695	24	5	530	5	GPR108	19	6732167	Splice_Site	SNP	C	TCGA-BR-8487-01A-11D-2394-08	236043	6732167	52396816	3081	62214											
TIMM44	10469	broad.mit.edu	37	chr19	8002975	8002975	+	Frame_Shift_Del	DEL	T	T	-													cttctggcctcgtcacggaaTttttttatactttctttcat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:8002974_8002974AT>A	uc002miz.3	-	2	422	c.250_250AT>T	c.(250-252)ttcfs	p.F84fs	TIMM44_uc010dvx.2_Non-coding_Transcript	NM_006351	NP_006342	O43615	TIM44_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA.	84					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TCGTCACGGAATTTTTTTATA	0.413													-	8002975	T	-	8002975	7	5	94	1	0	1	0	1	0	0	0	0	15909	1490	52	0	1153	0	TIMM44	19	8002975	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	1270808	8002975	51126008	3082	62215											
FBN3	84467	broad.mit.edu	37	chr19	8196625	8196625	+	Frame_Shift_Del	DEL	C	C	-													ccatccgtgcctaccgccagCccccccaggcactggcagcg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:8196625delC	uc002mjf.2	-	14	1824	c.1803delG	c.(1801-1803)GGGfs	p.G601fs		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	601	EGF-like 7; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CTACCGCCAGCCCCCCCAGGC	0.677													-	8196625	C	-	8196625	7	5	94	1	0	1	0	1	0	0	0	0	5704	726	26	0	6826	0	FBN3	19	8196625	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	193650	8196625	50932358	3083	62216											
ADAMTS10	81794	broad.mit.edu	37	chr19	8661959	8661959	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggttcacgatggatttctGccacttacagaagctgtcca	10	10	2	1	rs121434359		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:8661959G>A	uc002mkj.1	-	8	1226	c.952C>T	c.(952-954)CAG>TAG	p.Q318*	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	318	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						ATGGATTTCTGCCACTTACAG	0.582													A	8661959	G	A	8661959	4	1	94	1	0	0	0	0	0	1	0	0	256	1328	46	2	2435	2	ADAMTS10	19	8661959	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	465334	8661959	50467024	3084	62217											
MUC16	94025	broad.mit.edu	37	chr19	8999048	8999048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtggtgggcacagagctcCgctgtgtgaaacctgcatag	14	9	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:8999048C>T	uc002mkp.2	-	57	41000	c.40796G>A	c.(40795-40797)CGG>CAG	p.R13599Q	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.R416Q|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CACAGAGCTCCGCTGTGTGAA	0.552													T	8999048	C	T	8999048	3	4	94	1	0	0	0	0	1	0	0	0	9973	652	23	1	2839	1	MUC16	19	8999048	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	337089	8999048	50129935	3085	62218											
MUC16	94025	broad.mit.edu	37	chr19	9049229	9049229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagttgtacttgtctttgccGccaaactggtgaccattgag	10	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:9049229G>A	uc002mkp.2	-	5	32606	c.32402C>T	c.(32401-32403)GCG>GTG	p.A10801V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10803	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGTCTTTGCCGCCAAACTGGT	0.502													A	9049229	G	A	9049229	3	1	94	1	0	0	0	0	1	0	0	0	9973	1087	38	1	11441	1	MUC16	19	9049229	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	50181	9049229	50079754	3086	62219											
MUC16	94025	broad.mit.edu	37	chr19	9075091	9075091	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtagccagtggagtccctgTccaggaggctgtggctgatg	16	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:9075091T>A	uc002mkp.2	-	3	12559	c.12355A>T	c.(12355-12357)ACA>TCA	p.T4119S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4121	Thr-rich.|Extracellular (Potential).|Ser-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGAGTCCCTGTCCAGGAGGCT	0.502													A	9075091	T	A	9075091	3	1	94	1	0	0	0	0	1	0	0	0	9973	1667	58	5	31496	5	MUC16	19	9075091	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	25862	9075091	50053892	3087	62220											
ZNF317	57693	broad.mit.edu	37	chr19	9272105	9272105	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccgtgtggaaaaggctccAgtgagcgcgcctgctttaga	13	10	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:9272105A>G	uc002mku.2	+	7	2059	c.1784A>G	c.(1783-1785)CAG>CGG	p.Q595R	ZNF317_uc002mkv.2_Missense_Mutation_p.Q454R|ZNF317_uc002mkw.2_Missense_Mutation_p.Q563R|ZNF317_uc002mkx.2_Missense_Mutation_p.Q510R|ZNF317_uc002mky.2_Missense_Mutation_p.Q478R	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAAAGGCTCCAGTGAGCGCGC	0.562													G	9272105	A	G	9272105	3	3	94	1	0	0	0	0	1	0	0	0	17832	188	7	3	1806	3	ZNF317	19	9272105	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	197014	9272105	49856878	3088	62221											
PIN1	5300	broad.mit.edu	37	chr19	9958805	9958805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggggagacctgggtgCcttcagcagaggtgcgcaag	18	10	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:9958805C>T	uc002mml.1	+	3	393	c.371C>T	c.(370-372)GCC>GTC	p.A124V	PIN1_uc002mmk.1_Missense_Mutation_p.A124V|PIN1_uc002mmm.1_Missense_Mutation_p.A124V|PIN1_uc002mmn.1_RNA	NM_006221	NP_006212	Q13526	PIN1_HUMAN	protein (peptidyl-prolyl cis/trans isomerase)	124	PpiC.				cell cycle|negative regulation of cell motility|negative regulation of ERK1 and ERK2 cascade|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation	nucleoplasm	GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding			skin(1)	1						GACCTGGGTGCCTTCAGCAGA	0.622											OREG0025226	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	9958805	C	T	9958805	3	4	94	1	0	0	0	0	1	0	0	0	11930	739	26	2	381	2	PIN1	19	9958805	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	686700	9958805	49170178	3089	62222											
PPAN-P2RY11	692312	broad.mit.edu	37	chr19	10225287	10225287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcctgggctgctgctgccGacactgccccggctacaggg	14	16	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:10225287G>A	uc002mna.2	+	13	2258	c.2258G>A	c.(2257-2259)CGA>CAA	p.R753Q	PPAN-P2RY11_uc010xla.1_3'UTR|P2RY11_uc002mnc.2_Missense_Mutation_p.R333Q	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	Error:Variant_position_missing_in_Q9NQ55_after_alignment					RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TGCTGCTGCCGACACTGCCCC	0.657													A	10225287	G	A	10225287	3	1	94	1	0	0	0	0	1	0	0	0	12289	1058	37	1		1	PPAN-P2RY11	19	10225287	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	266482	10225287	48903696	3090	62223											
DNMT1	1786	broad.mit.edu	37	chr19	10265002	10265002	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcgccggcgcttaaaggcGttctccttgtcttctctgtc	9	14	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:10265002G>A	uc002mng.2	-	21	2118	c.1938C>T	c.(1936-1938)AAC>AAT	p.N646N	DNMT1_uc010xlc.1_Silent_p.N662N|DNMT1_uc002mnh.2_Silent_p.N541N|DNMT1_uc010xld.1_Silent_p.N646N	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	646	CXXC-type.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GCTTAAAGGCGTTCTCCTTGT	0.567													A	10265002	G	A	10265002	2	1	94	1	0	0	0	0	0	0	0	1	4675	1136	40	1		1	DNMT1	19	10265002	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	39715	10265002	48863981	3091	62224											
MRPL4	51073	broad.mit.edu	37	chr19	10367427	10367427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgaggtgcggggcggtgGccggaagccttggccgcaga	20	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:10367427G>A	uc002mnm.2	+	6	525	c.371G>A	c.(370-372)GGC>GAC	p.G124D	MRPL4_uc002mnn.2_Missense_Mutation_p.G124D|MRPL4_uc002mno.2_Missense_Mutation_p.G124D	NM_146387	NP_666499	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4 isoform a	124					translation	mitochondrion|ribosome	structural constituent of ribosome			ovary(1)	1		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		CGGGGCGGTGGCCGGAAGCCT	0.692													A	10367427	G	A	10367427	3	1	94	1	0	0	0	0	1	0	0	0	9803	1203	42	2	389	2	MRPL4	19	10367427	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	102425	10367427	48761556	3092	62225											
RAVER1	125950	broad.mit.edu	37	chr19	10433397	10433397	+	Frame_Shift_Del	DEL	G	G	-													cattgagcagcggcatggctGggggggcacccaggaggcct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:10433397delG	uc002moa.2	-	6	1228	c.1148delC	c.(1147-1149)CCAfs	p.P383fs		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	366	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CGGCATGGCTGGGGGGGCACC	0.662													-	10433397	G	-	10433397	7	5	94	1	0	1	0	1	0	0	0	0	13094	1348	47	0	1154	0	RAVER1	19	10433397	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	65970	10433397	48695586	3093	62226											
TYK2	7297	broad.mit.edu	37	chr19	10476274	10476274	+	Frame_Shift_Del	DEL	C	C	-													agcacctcgtgggttgggggCccagcagcagactcagggcc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:10476274delC	uc002moc.3	-	7	1308	c.930delG	c.(928-930)GGGfs	p.G310fs	TYK2_uc010dxe.2_Frame_Shift_Del_p.G125fs|TYK2_uc002mod.2_Frame_Shift_Del_p.G310fs	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	310	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GGGTTGGGGGCCCAGCAGCAG	0.672													-	10476274	C	-	10476274	7	5	94	1	0	1	0	1	0	0	0	0	16807	726	26	0	2709	0	TYK2	19	10476274	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	42877	10476274	48652709	3094	62227											
SLC44A2	57153	broad.mit.edu	37	chr19	10747092	10747092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggctaccaccgggccctgCtgggcctgcagatcttcaat	12	15	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:10747092C>T	uc002mpf.2	+	15	1466	c.1327C>T	c.(1327-1329)CTG>TTG	p.L443L	SLC44A2_uc002mpe.3_Silent_p.L441L|SLC44A2_uc002mpg.1_Silent_p.L163L|SLC44A2_uc002mph.2_5'UTR	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	solute carrier family 44, member 2 isoform 1	443	Extracellular (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			ovary(1)	1			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CCGGGCCCTGCTGGGCCTGCA	0.627													T	10747092	C	T	10747092	2	4	94	1	0	0	0	0	0	0	0	1	14636	796	28	2		2	SLC44A2	19	10747092	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	270818	10747092	48381891	3095	62228											
SMARCA4	6597	broad.mit.edu	37	chr19	11096942	11096942	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcccgtcttcggggccccagAtgtcttccgggccaggaggt	15	14	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:11096942A>T	uc002mqf.3	+	4	717	c.433A>T	c.(433-435)ATG>TTG	p.M145L	SMARCA4_uc010dxp.2_Missense_Mutation_p.M145L|SMARCA4_uc010dxo.2_Missense_Mutation_p.M145L|SMARCA4_uc002mqg.1_Missense_Mutation_p.M145L|SMARCA4_uc010dxq.2_Missense_Mutation_p.M145L|SMARCA4_uc010dxr.2_Missense_Mutation_p.M145L|SMARCA4_uc002mqj.3_Missense_Mutation_p.M145L|SMARCA4_uc010dxs.2_Missense_Mutation_p.M145L|SMARCA4_uc002mqe.2_Missense_Mutation_p.M145L	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	145	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGGGCCCCAGATGTCTTCCGG	0.652			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				T	11096942	A	T	11096942	3	4	94	1	0	0	0	0	1	0	0	0	14770	333	12	5	443	5	SMARCA4	19	11096942	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	349850	11096942	48032041	3096	62229											
SMARCA4	6597	broad.mit.edu	37	chr19	11100064	11100064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtccctggccggggatttgcGaaccaaagcgaccattgagc	13	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:11100064G>A	uc002mqf.3	+	7	1474	c.1190G>A	c.(1189-1191)CGA>CAA	p.R397Q	SMARCA4_uc010dxp.2_Missense_Mutation_p.R397Q|SMARCA4_uc010dxo.2_Missense_Mutation_p.R397Q|SMARCA4_uc002mqg.1_Missense_Mutation_p.R397Q|SMARCA4_uc010dxq.2_Missense_Mutation_p.R397Q|SMARCA4_uc010dxr.2_Missense_Mutation_p.R397Q|SMARCA4_uc002mqj.3_Missense_Mutation_p.R397Q|SMARCA4_uc010dxs.2_Missense_Mutation_p.R397Q|SMARCA4_uc002mqe.2_Missense_Mutation_p.R397Q	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	397					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGGGATTTGCGAACCAAAGCG	0.597			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				A	11100064	G	A	11100064	3	1	94	1	0	0	0	0	1	0	0	0	14770	1058	37	1	1212	1	SMARCA4	19	11100064	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3122	11100064	48028919	3097	62230											
SMARCA4	6597	broad.mit.edu	37	chr19	11144499	11144499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgcccacactgcccctccGccagcgggcgtcaaccccga	9	21	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:11144499G>A	uc002mqf.3	+	27	4115	c.3831G>A	c.(3829-3831)CCG>CCA	p.P1277P	SMARCA4_uc010dxp.2_Silent_p.P1277P|SMARCA4_uc010dxo.2_Silent_p.P1277P|SMARCA4_uc010dxq.2_Intron|SMARCA4_uc010dxr.2_Intron|SMARCA4_uc002mqj.3_Intron|SMARCA4_uc010dxs.2_Intron|SMARCA4_uc010dxt.1_Intron|SMARCA4_uc002mqh.3_Intron|SMARCA4_uc002mqi.1_Intron	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1277					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ctgcccctccgccagcgggcg	0			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				A	11144499	G	A	11144499	2	1	94	1	0	0	0	0	0	0	0	1	14770	1074	38	1		1	SMARCA4	19	11144499	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	44435	11144499	47984484	3098	62231											
LDLR	3949	broad.mit.edu	37	chr19	11218190	11218190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaacccatcaaagagtgcGgtgagtctcggtgcaggcgg	15	9	2	3	rs72658858		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:11218190G>A	uc002mqk.3	+	6	1108	c.940G>A	c.(940-942)GGG>AGG	p.G314R	LDLR_uc010xlk.1_Missense_Mutation_p.G314R|LDLR_uc010xll.1_Missense_Mutation_p.G273R|LDLR_uc010xlm.1_Missense_Mutation_p.G167R|LDLR_uc010xln.1_Missense_Mutation_p.G187R|LDLR_uc010xlo.1_Missense_Mutation_p.G146R	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	314	Extracellular (Potential).|EGF-like 1.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CAAAGAGTGCGGTGAGTCTCG	0.562													A	11218190	G	A	11218190	3	1	94	1	0	0	0	0	1	0	0	0	8704	1130	39	1	962	1	LDLR	19	11218190	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	73691	11218190	47910793	3099	62232											
LDLR	3949	broad.mit.edu	37	chr19	11241983	11241983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtcagtctggaggatgaCgtggcgtgaacatctgcctg	15	8	3	2	rs139757711		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:11241983C>T	uc002mqk.3	+	18	2742	c.2574C>T	c.(2572-2574)GAC>GAT	p.D858D	LDLR_uc010xlk.1_Silent_p.D856D|LDLR_uc010xll.1_Silent_p.D817D|LDLR_uc010xlm.1_Silent_p.D711D|LDLR_uc010xln.1_Silent_p.D680D|LDLR_uc010xlo.1_Silent_p.D690D|LDLR_uc010dxu.2_Missense_Mutation_p.T25M	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	858	Required for MYLIP-triggered down- regulation of LDLR.|Cytoplasmic (Potential).				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TGGAGGATGACGTGGCGTGAA	0.527											OREG0025249	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	11241983	C	T	11241983	2	4	94	1	0	0	0	0	0	0	0	1	8704	535	19	1		1	LDLR	19	11241983	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	23793	11241983	47887000	3100	62233											
KANK2	25959	broad.mit.edu	37	chr19	11280723	11280723	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacctggttggagactcaCgcgatctgtgagtgagatgt	14	8	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:11280723C>T	uc010dxv.2	-	13	2970	c.2412_splice	c.e13+1	p.R804_splice	KANK2_uc002mqm.2_Splice_Site_p.R812_splice|KANK2_uc002mqo.3_Splice_Site_p.R804_splice|KANK2_uc002mqp.1_Splice_Site_p.R613_splice	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1												0						TGGAGACTCACGCGATCTGTG	0.637													T	11280723	C	T	11280723	5	4	94	1	0	0	0	0	0	0	1	0	7977	550	19	1	154	1	KANK2	19	11280723	Splice_Site	SNP	C	TCGA-BR-8487-01A-11D-2394-08	38740	11280723	47848260	3101	62234											
RGL3	57139	broad.mit.edu	37	chr19	11510959	11510959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctggtggctcaatgaccCgggagagccggtagctgagg	17	10	1	3	rs117608091	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:11510959C>T	uc002mrp.2	-	14	1563	c.1499G>A	c.(1498-1500)CGG>CAG	p.R500Q	RGL3_uc002mrn.2_Missense_Mutation_p.R264Q|RGL3_uc002mrm.2_Missense_Mutation_p.R264Q|RGL3_uc002mro.2_Missense_Mutation_p.R500Q	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	500	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1						CTCAATGACCCGGGAGAGCCG	0.612													T	11510959	C	T	11510959	3	4	94	1	0	0	0	0	1	0	0	0	13278	652	23	1	675	1	RGL3	19	11510959	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	230236	11510959	47618024	3102	62235											
PRKCSH	5589	broad.mit.edu	37	chr19	11548910	11548910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcgatggaacagacgaGtacaacagcggcgtcatctg	13	10	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:11548910G>A	uc002mrt.2	+	5	651	c.315G>A	c.(313-315)GAG>GAA	p.E105E	CCDC151_uc002mrs.2_5'Flank|CCDC151_uc010dxz.2_5'Flank|PRKCSH_uc002mru.2_Silent_p.E105E|PRKCSH_uc010xlz.1_Silent_p.E105E|PRKCSH_uc010dya.2_Missense_Mutation_p.S74N|PRKCSH_uc002mrv.1_Silent_p.E105E|PRKCSH_uc010dyb.2_Silent_p.E105E	NM_002743	NP_002734	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H isoform 1	105					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding				0						GAACAGACGAGTACAACAGCG	0.582													A	11548910	G	A	11548910	2	1	94	1	0	0	0	0	0	0	0	1	12516	1020	36	4		4	PRKCSH	19	11548910	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	37951	11548910	47580073	3103	62236											
ZNF653	115950	broad.mit.edu	37	chr19	11597605	11597605	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaagctgctgagggccacGtagacttggctgcagccctc	14	12	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:11597605G>A	uc002mrz.1	-	6	1487	c.1434C>T	c.(1432-1434)TAC>TAT	p.Y478Y		NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	zinc finger protein 653	478	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGAGGGCCACGTAGACTTGGC	0.672													A	11597605	G	A	11597605	2	1	94	1	0	0	0	0	0	0	0	1	18063	1140	40	1		1	ZNF653	19	11597605	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	48695	11597605	47531378	3104	62237											
ECSIT	51295	broad.mit.edu	37	chr19	11618361	11618361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagaggttccactcctccGgcgtctcttccacttcctac	7	16	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:11618361G>A	uc002msb.2	-	7	1096	c.962C>T	c.(961-963)CCG>CTG	p.P321L	ZNF653_uc002mrz.1_5'Flank|ECSIT_uc002msa.1_RNA|ECSIT_uc010dyc.1_Missense_Mutation_p.R281W|ECSIT_uc010dyd.2_Silent_p.A271A|ECSIT_uc010xma.1_Missense_Mutation_p.P107L	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	evolutionarily conserved signaling intermediate	321					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			ovary(1)	1						CCACTCCTCCGGCGTCTCTTC	0.582													A	11618361	G	A	11618361	3	1	94	1	0	0	0	0	1	0	0	0	4900	1116	39	1	341	1	ECSIT	19	11618361	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	20756	11618361	47510622	3105	62238											
CNN1	1264	broad.mit.edu	37	chr19	11660379	11660379	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcaggctggcatgactgcGccagggaccaagcggcagat	15	12	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:11660379G>A	uc002msc.1	+	7	827	c.663G>A	c.(661-663)GCG>GCA	p.A221A	CNN1_uc010xmb.1_Silent_p.A171A|CNN1_uc010xmc.1_Silent_p.A171A	NM_001299	NP_001290	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	221	Calponin-like 2.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding				0						GCATGACTGCGCCAGGGACCA	0.692													A	11660379	G	A	11660379	2	1	94	1	0	0	0	0	0	0	0	1	3609	1074	38	1		1	CNN1	19	11660379	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	42018	11660379	47468604	3106	62239											
ZNF433	163059	broad.mit.edu	37	chr19	12128716	12128716	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttctccttagattttcgtActctacatatatgttctggg	7	8	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:12128716A>G	uc002msy.1	-	3	346	c.175T>C	c.(175-177)TAC>CAC	p.Y59H	uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.Y24H	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGATTTTCGTACTCTACATAT	0.299													G	12128716	A	G	12128716	3	3	94	1	0	0	0	0	1	0	0	0	17904	391	14	3	1854	3	ZNF433	19	12128716	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	468337	12128716	47000267	3107	62240											
ZNF878	729747	broad.mit.edu	37	chr19	12155504	12155504	+	Frame_Shift_Del	DEL	A	A	-													tctttttaacgaactgggagAaaaaaaggctttcccacata							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:12155503_12155503GA>G	uc021upl.1	-	3	879	c.713_713TC>C	c.(712-714)tctfs	p.S238fs	ZNF878_uc002mta.1_Frame_Shift_Del_p.S285fs	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CGAACTGGGAGAAAAAAAGGC	0.393													-	12155504	A	-	12155504	7	5	94	1	0	1	0	1	0	0	0	0	18193	246	9	0	887	0	ZNF878	19	12155504	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	26788	12155504	46973479	3108	62241											
MAN2B1	4125	broad.mit.edu	37	chr19	12758380	12758380	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagcgtgagcaggtgcacCgagggcggcaggtccctgcg	18	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:12758380C>A	uc002mub.2	-	22	2773	c.2697G>T	c.(2695-2697)TCG>TCT	p.S899S	MAN2B1_uc010dyv.1_Silent_p.S898S	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	899					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						GCAGGTGCACCGAGGGCGGCA	0.692													A	12758380	C	A	12758380	2	1	94	1	0	0	0	0	0	0	0	1	9216	639	23	5		5	MAN2B1	19	12758380	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	602876	12758380	46370603	3109	62242											
MAN2B1	4125	broad.mit.edu	37	chr19	12774228	12774228	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggctgatcgacacacagcAcatcccagcacagattcctt	8	15	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:12774228A>G	uc002mub.2	-	6	888	c.812T>C	c.(811-813)GTG>GCG	p.V271A	MAN2B1_uc010dyv.1_Missense_Mutation_p.V271A	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	271					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						GACACACAGCACATCCCAGCA	0.587													G	12774228	A	G	12774228	3	3	94	1	0	0	0	0	1	0	0	0	9216	159	6	3	2299	3	MAN2B1	19	12774228	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	15848	12774228	46354755	3110	62243											
C19orf56	51398	broad.mit.edu	37	chr19	12779388	12779388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccgagagttggcaaagCtgatgaaggagcagtagaca	14	7	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:12779388C>T	uc002mud.2	-	3	448	c.200G>A	c.(199-201)AGC>AAC	p.S67N	MAN2B1_uc002mub.2_5'Flank|MAN2B1_uc010dyv.1_5'Flank|WDR83_uc002mue.3_5'UTR|WDR83_uc002muc.2_RNA|WDR83_uc010dyw.2_5'Flank	NM_016145	NP_057229	Q9Y284	CS056_HUMAN	hypothetical protein LOC51398	67						integral to membrane					0						GTTGGCAAAGCTGATGAAGGA	0.522													T	12779388	C	T	12779388	3	4	94	1	0	0	0	0	1	0	0	0	1938	797	28	2	128	2	C19orf56	19	12779388	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	5160	12779388	46349595	3111	62244											
HOOK2	29911	broad.mit.edu	37	chr19	12882020	12882020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgggattgcagcagcagCagcttcttggcagtgagacc	14	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:12882020C>T	uc002muy.2	-	9	885	c.714G>A	c.(712-714)CTG>CTA	p.L238L	HOOK2_uc002muz.2_Silent_p.L238L	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	238	Sufficient for interaction with microtubules.|Potential.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			ovary(1)|breast(1)|skin(1)	3						GCAGCAGCAGCAGCTTCTTGG	0.657													T	12882020	C	T	12882020	2	4	94	1	0	0	0	0	0	0	0	1	7283	697	25	2		2	HOOK2	19	12882020	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	102632	12882020	46246963	3112	62245											
RNASEH2A	10535	broad.mit.edu	37	chr19	12918244	12918244	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacagggtcaaatacaAcctgaactccctgtcacatg	6	15	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:12918244A>G	uc002mvg.1	+	4	395	c.335A>G	c.(334-336)AAC>AGC	p.N112S	RNASEH2A_uc002mvf.1_Missense_Mutation_p.N30S	NM_006397	NP_006388	O75792	RNH2A_HUMAN	ribonuclease H2, large subunit	112				N->A: Reduced enzyme activity.	DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(2)|central_nervous_system(1)	3						GTCAAATACAACCTGAACTCC	0.542													G	12918244	A	G	12918244	3	3	94	1	0	0	0	0	1	0	0	0	13412	43	2	3	349	3	RNASEH2A	19	12918244	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	36224	12918244	46210739	3113	62246											
TRMT1	55621	broad.mit.edu	37	chr19	13223557	13223557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcttgagggccatggcccCgtacttgctgtagcacgtct	12	13	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:13223557C>T	uc002mwj.2	-	6	1082	c.832G>A	c.(832-834)GGG>AGG	p.G278R	TRMT1_uc002mwk.2_Missense_Mutation_p.G278R|TRMT1_uc002mwl.3_Missense_Mutation_p.G278R|TRMT1_uc010xmz.1_Missense_Mutation_p.G64R	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	278							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GCCATGGCCCCGTACTTGCTG	0.657													T	13223557	C	T	13223557	3	4	94	1	0	0	0	0	1	0	0	0	16558	652	23	1	1191	1	TRMT1	19	13223557	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	305313	13223557	45905426	3114	62247											
CACNA1A	773	broad.mit.edu	37	chr19	13363878	13363878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagacgatgttgaacaccCgcagggcattttcataagca	10	9	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:13363878C>T	uc010dze.2	-	30	5032	c.4796G>A	c.(4795-4797)CGG>CAG	p.R1599Q	CACNA1A_uc010xnd.1_Missense_Mutation_p.R304Q|CACNA1A_uc002mwx.3_Missense_Mutation_p.R304Q|CACNA1A_uc010dzc.2_Missense_Mutation_p.R1124Q|CACNA1A_uc002mwy.3_Missense_Mutation_p.R1598Q|CACNA1A_uc010xne.1_Missense_Mutation_p.R1127Q|CACNA1A_uc002mwv.3_Missense_Mutation_p.R115Q	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1599	Helical; Name=S2 of repeat IV; (Potential).|IV.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTTGAACACCCGCAGGGCATT	0.527													T	13363878	C	T	13363878	3	4	94	1	0	0	0	0	1	0	0	0	2538	652	23	1	2901	1	CACNA1A	19	13363878	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	140321	13363878	45765105	3115	62248											
CACNA1A	773	broad.mit.edu	37	chr19	13418941	13418941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaggacttactggccgcCgaagagttgcattcccaaaa	11	10	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:13418941C>T	uc010dze.2	-	14	2145	c.1909G>A	c.(1909-1911)GGC>AGC	p.G637S	CACNA1A_uc010dzc.2_Missense_Mutation_p.G162S|CACNA1A_uc002mwy.3_Missense_Mutation_p.G636S|CACNA1A_uc010xne.1_Missense_Mutation_p.G162S	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	637	Extracellular (Potential).|II.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TACTGGCCGCCGAAGAGTTGC	0.547													T	13418941	C	T	13418941	3	4	94	1	0	0	0	0	1	0	0	0	2538	652	23	1	5861	1	CACNA1A	19	13418941	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	55063	13418941	45710042	3116	62249											
CCDC130	81576	broad.mit.edu	37	chr19	13869968	13869968	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catgttccggctggagcatgGcgaggccgaccgcagcacac	14	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:13869968G>C	uc002mxb.1	+	9	958	c.455G>C	c.(454-456)GGC>GCC	p.G152A	CCDC130_uc010xnf.1_3'UTR|CCDC130_uc002mxc.1_Missense_Mutation_p.G152A|CCDC130_uc002mxd.1_Missense_Mutation_p.G7A|CCDC130_uc010dzf.1_Missense_Mutation_p.G46A	NM_030818	NP_110445	P13994	CC130_HUMAN	coiled-coil domain containing 130	152					response to virus		protein binding				0			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CTGGAGCATGGCGAGGCCGAC	0.637													C	13869968	G	C	13869968	3	2	94	1	0	0	0	0	1	0	0	0	2766	1203	42	5	481	5	CCDC130	19	13869968	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	451027	13869968	45259015	3117	62250											
MRI1	84245	broad.mit.edu	37	chr19	13882968	13882968	+	Frame_Shift_Del	DEL	C	C	-													gaatcctgccttcgatgtcaCcccccacgacctcatcactg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:13882968delC	uc002mxe.2	+	6	1049	c.983delC	c.(982-984)ACCfs	p.T328fs	MRI1_uc002mxf.2_Frame_Shift_Del_p.T281fs|C19orf53_uc002mxg.2_5'Flank	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN	translation initiation factor eIF-2B subunit	328					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			ovary(1)	1						TTCGATGTCACCCCCCACGAC	0.557													-	13882968	C	-	13882968	7	5	94	1	0	1	0	1	0	0	0	0	9770	507	18	0	1098	0	MRI1	19	13882968	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	13000	13882968	45246015	3118	62251											
CC2D1A	54862	broad.mit.edu	37	chr19	14038730	14038730	+	Frame_Shift_Del	DEL	G	G	-													tggatggtcgccggcccacaGgggggcgactggaggtaatg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:14038729_14038729AG>A	uc002mxo.2	+	22	2639	c.2340_2340AG>A	c.(2338-2340)acafs	p.T780fs	CC2D1A_uc002mxp.2_Frame_Shift_Del_p.T780fs|CC2D1A_uc010dzh.2_Frame_Shift_Del_p.T349fs	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	780					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCCGGCCCACAGGGGGGCGAC	0.627													-	14038730	G	-	14038730	7	5	94	1	0	1	0	1	0	0	0	0	2726	1000	35	0	2431	0	CC2D1A	19	14038730	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	155762	14038730	45090253	3119	62252											
LPHN1	22859	broad.mit.edu	37	chr19	14281569	14281569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaggaaaggcatccgagcCggcgaccaccacgcactggg	14	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:14281569C>T	uc010xnn.1	-	4	615	c.319G>A	c.(319-321)GGC>AGC	p.G107S	LPHN1_uc010xno.1_Missense_Mutation_p.G107S|uc002myf.2_RNA|uc010dzk.1_5'Flank	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	107	SUEL-type lectin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						GCATCCGAGCCGGCGACCACC	0.587													T	14281569	C	T	14281569	3	4	94	1	0	0	0	0	1	0	0	0	8915	652	23	1	4189	1	LPHN1	19	14281569	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	242839	14281569	44847414	3120	62253											
SLC1A6	6511	broad.mit.edu	37	chr19	15072900	15072900	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccttgtgtttcatgccAccaatgaccagcccaaaggc	8	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:15072900A>G	uc002naa.1	-	5	857	c.849T>C	c.(847-849)GGT>GGC	p.G283G	SLC1A6_uc010dzu.1_Silent_p.G283G|SLC1A6_uc010xod.1_Silent_p.G219G|SLC1A6_uc002nab.2_Silent_p.G283G|SLC1A6_uc002nac.2_Silent_p.G283G	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	283	Helical; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	GTTTCATGCCACCAATGACCA	0.562													G	15072900	A	G	15072900	2	3	94	1	0	0	0	0	0	0	0	1	14436	146	6	3		3	SLC1A6	19	15072900	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	791331	15072900	44056083	3121	62254											
CASP14	23581	broad.mit.edu	37	chr19	15166256	15166256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccaggatacatcgcctaccGacatgatcagaaaggctcat	8	13	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:15166256G>A	uc010dzv.1	+	6	844	c.536G>A	c.(535-537)CGA>CAA	p.R179Q	CASP14_uc002naf.2_Missense_Mutation_p.R179Q	NM_012114	NP_036246	P31944	CASPE_HUMAN	caspase 14 precursor	179					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			skin(2)|ovary(1)|lung(1)	4						ATCGCCTACCGACATGATCAG	0.532													A	15166256	G	A	15166256	3	1	94	1	0	0	0	0	1	0	0	0	2670	1058	37	1	554	1	CASP14	19	15166256	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	93356	15166256	43962727	3122	62255											
ILVBL	10994	broad.mit.edu	37	chr19	15227029	15227029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagtgcccacgaagtcccCgccatccaccaccagaattg	8	17	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:15227029C>T	uc002nam.2	-	12	1526	c.1405G>A	c.(1405-1407)GGG>AGG	p.G469R	ILVBL_uc010xof.1_Missense_Mutation_p.G110R|ILVBL_uc010dzw.2_Missense_Mutation_p.G362R	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	469						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			ovary(2)	2						ACGAAGTCCCCGCCATCCACC	0.662													T	15227029	C	T	15227029	3	4	94	1	0	0	0	0	1	0	0	0	7715	652	23	1	513	1	ILVBL	19	15227029	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	60773	15227029	43901954	3123	62256											
NOTCH3	4854	broad.mit.edu	37	chr19	15311612	15311612	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctcacctgcagcccccggCcccgctagcagcagcagcag	10	21	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:15311612C>G	uc002nan.2	-	1	181	c.105G>C	c.(103-105)GGG>GGC	p.G35G	NOTCH3_uc002nao.1_Silent_p.G35G	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	35					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAGCCCCCGGCCCCGCTAGCA	0.587													G	15311612	C	G	15311612	2	3	94	1	0	0	0	0	0	0	0	1	10550	726	26	5		5	NOTCH3	19	15311612	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	84583	15311612	43817371	3124	62257											
BRD4	23476	broad.mit.edu	37	chr19	15349943	15349943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccttcagggccttctcacGctcctctttctcccgagcgg	9	17	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:15349943G>A	uc002nar.2	-	18	3931	c.3709C>T	c.(3709-3711)CGT>TGT	p.R1237C		NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	1237					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)			GCCTTCTCACGCTCCTCTTTC	0.662			T	NUT|C15orf55	lethal midline carcinoma of young people								A	15349943	G	A	15349943	3	1	94	1	0	0	0	0	1	0	0	0	1504	1087	38	1	391	1	BRD4	19	15349943	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	38331	15349943	43779040	3125	62258											
WIZ	58525	broad.mit.edu	37	chr19	15535132	15535132	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgtaggtcattggtgTcctcgcctccccgggctgcg	13	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:15535132T>C	uc002nbc.2	-	7	2632	c.2609A>G	c.(2608-2610)GAC>GGC	p.D870G	WIZ_uc002nba.3_Missense_Mutation_p.D737G|WIZ_uc002nbb.3_Missense_Mutation_p.D696G	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	1553						nucleus	zinc ion binding				0						GTCATTGGTGTCCTCGCCTCC	0.667													C	15535132	T	C	15535132	3	2	94	1	0	0	0	0	1	0	0	0	17372	1667	58	3	305	3	WIZ	19	15535132	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	185189	15535132	43593851	3126	62259											
WIZ	58525	broad.mit.edu	37	chr19	15538114	15538114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgccgcccatcatcttggCcagggcttttgggcttggcc	13	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:15538114C>T	uc002nbc.2	-	4	1305	c.1282G>A	c.(1282-1284)GCC>ACC	p.A428T	WIZ_uc002nba.3_Missense_Mutation_p.A295T|WIZ_uc002nbb.3_Missense_Mutation_p.A254T	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	1111	Pro-rich.					nucleus	zinc ion binding				0						ATCATCTTGGCCAGGGCTTTT	0.652													T	15538114	C	T	15538114	3	4	94	1	0	0	0	0	1	0	0	0	17372	739	26	2	1644	2	WIZ	19	15538114	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2982	15538114	43590869	3127	62260											
CYP4F11	57834	broad.mit.edu	37	chr19	16024702	16024702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatctcagccatggcgaacGcctgcccgatgcagtttctg	10	14	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:16024702G>A	uc002nbu.2	-	13	1451	c.1415C>T	c.(1414-1416)GCG>GTG	p.A472V	CYP4F11_uc010eab.1_Silent_p.G450G|CYP4F11_uc002nbt.2_Missense_Mutation_p.A472V	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	472					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1						CATGGCGAACGCCTGCCCGAT	0.622													A	16024702	G	A	16024702	3	1	94	1	0	0	0	0	1	0	0	0	4186	1087	38	1	163	1	CYP4F11	19	16024702	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	486588	16024702	43104281	3128	62261											
OR10H4	126541	broad.mit.edu	37	chr19	16059877	16059877	+	Frame_Shift_Del	DEL	C	C	-													ctctttggcttctcagccttCccccagcacctcctgcccat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:16059877delC	uc010xov.1	+	1	60	c.60delC	c.(58-60)TTCfs	p.F20fs		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						TCTCAGCCTTCCCCCAGCACC	0.458													-	16059877	C	-	16059877	7	5	94	1	0	1	0	1	0	0	0	0	10908	854	30	0	62	0	OR10H4	19	16059877	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	35175	16059877	43069106	3129	62262											
EPS15L1	58513	broad.mit.edu	37	chr19	16504805	16504805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaggggtcattctggaaCgggtcgcctggttggaagag	17	7	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:16504805C>T	uc002ndz.1	-	18	1929	c.1923G>A	c.(1921-1923)CCG>CCA	p.P641P	EPS15L1_uc002ndx.2_Silent_p.P641P|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.P531P|EPS15L1_uc010xpf.1_Silent_p.P544P|EPS15L1_uc002nea.1_Silent_p.P641P|EPS15L1_uc010eah.1_Silent_p.P643P	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway	641	15 X 3 AA repeats of D-P-F.|2.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)|skin(2)	5						CATTCTGGAACGGGTCGCCTG	0.542													T	16504805	C	T	16504805	2	4	94	1	0	0	0	0	0	0	0	1	5193	523	19	1		1	EPS15L1	19	16504805	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	444928	16504805	42624178	3130	62263											
C19orf44	84167	broad.mit.edu	37	chr19	16620648	16620648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcttgacagaacactggaCgctttgtctgaatcctcttc	7	12	3	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:16620648C>T	uc002neh.1	+	5	1561	c.1488C>T	c.(1486-1488)GAC>GAT	p.D496D	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Silent_p.D496D|C19orf44_uc002neg.2_Silent_p.D496D|C19orf44_uc010eai.1_RNA	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	hypothetical protein LOC84167	496											0						GAACACTGGACGCTTTGTCTG	0.498													T	16620648	C	T	16620648	2	4	94	1	0	0	0	0	0	0	0	1	1927	535	19	1		1	C19orf44	19	16620648	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	115843	16620648	42508335	3131	62264											
CHERP	10523	broad.mit.edu	37	chr19	16646277	16646277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatacctgtctgagcgccaGcaagtgctgctcctgctgct	10	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:16646277G>A	uc002nei.1	-	3	444	c.370C>T	c.(370-372)CTG>TTG	p.L124L	MED26_uc002nee.2_Intron|CHERP_uc002nej.2_Silent_p.L92L	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	124					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						CTGAGCGCCAGCAAGTGCTGC	0.662													A	16646277	G	A	16646277	2	1	94	1	0	0	0	0	0	0	0	1	3336	962	34	2		2	CHERP	19	16646277	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	25629	16646277	42482706	3132	62265											
NWD1	284434	broad.mit.edu	37	chr19	16860883	16860883	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggggcactgggggttttggAcaccttgcagcgggtgctcc	18	10	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:16860883A>T	uc002neu.3	+	6	1852	c.1430A>T	c.(1429-1431)GAC>GTC	p.D477V	NWD1_uc002net.3_Missense_Mutation_p.D342V|NWD1_uc002nev.3_Missense_Mutation_p.D271V			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	477	NACHT.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7						GGGGTTTTGGACACCTTGCAG	0.642													T	16860883	A	T	16860883	3	4	94	1	0	0	0	0	1	0	0	0	10781	275	10	5	1031	5	NWD1	19	16860883	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	214606	16860883	42268100	3133	62266											
MYO9B	4650	broad.mit.edu	37	chr19	17311596	17311596	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttccgccagatcaccaaCgccaatgagctcaagtacct	8	14	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:17311596C>T	uc010eak.2	+	26	4673	c.4521C>T	c.(4519-4521)AAC>AAT	p.N1507N	MYO9B_uc002nfi.2_Silent_p.N1507N|MYO9B_uc002nfj.1_Silent_p.N1507N|MYO9B_uc002nfl.1_Silent_p.N56N	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	1507	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						AGATCACCAACGCCAATGAGC	0.567													T	17311596	C	T	17311596	2	4	94	1	0	0	0	0	0	0	0	1	10085	535	19	1		1	MYO9B	19	17311596	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	450713	17311596	41817387	3134	62267											
MAP1S	55201	broad.mit.edu	37	chr19	17836977	17836977	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcgccgtcaatggcttcActgtgctggtcaacggtggc	12	12	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:17836977A>G	uc002nhe.1	+	5	793	c.784A>G	c.(784-786)ACT>GCT	p.T262A	MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Missense_Mutation_p.T262A|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Missense_Mutation_p.T236A	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	262	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						CAATGGCTTCACTGTGCTGGT	0.672													G	17836977	A	G	17836977	3	3	94	1	0	0	0	0	1	0	0	0	9234	159	6	3	802	3	MAP1S	19	17836977	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	525381	17836977	41292006	3135	62268											
ARRDC2	27106	broad.mit.edu	37	chr19	18119242	18119242	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggagctgtcaagcgcCgcgcgtgtgggtgccctgag	17	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:18119242C>T	uc002nhv.2	+	1	266	c.123C>T	c.(121-123)GCC>GCT	p.A41A	ARRDC2_uc002nhu.2_Intron	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2 isoform 1	41										pancreas(1)	1						TGTCAAGCGCCGCGCGTGTGG	0.751													T	18119242	C	T	18119242	2	4	94	1	0	0	0	0	0	0	0	1	983	639	23	1		1	ARRDC2	19	18119242	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	282265	18119242	41009741	3136	62269											
JUND	3727	broad.mit.edu	37	chr19	18391291	18391291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggggcagcagctggcagCcgctgttgacgtggctgagg	19	10	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:18391291C>T	uc002nip.2	-	1	1142	c.1004G>A	c.(1003-1005)GGC>GAC	p.G335D	hsa-mir-3188|MI0014232_5'Flank	NM_005354	NP_005345	P17535	JUND_HUMAN	jun D proto-oncogene	335					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0						CAGCTGGCAGCCGCTGTTGAC	0.716													T	18391291	C	T	18391291	3	4	94	1	0	0	0	0	1	0	0	0	7971	739	26	2	43	2	JUND	19	18391291	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	272049	18391291	40737692	3137	62270											
FKBP8	23770	broad.mit.edu	37	chr19	18649226	18649226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcacagggccgcgtgcGgggggatgtatgggctcctg	19	11	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:18649226G>A	uc002njk.1	-	5	682	c.569C>T	c.(568-570)CCG>CTG	p.P190L	FKBP8_uc002nji.1_Missense_Mutation_p.P28L|FKBP8_uc010xqi.1_Missense_Mutation_p.P219L|FKBP8_uc002njj.1_Missense_Mutation_p.P191L|FKBP8_uc002njl.1_Missense_Mutation_p.P191L|FKBP8_uc002njm.1_Missense_Mutation_p.P190L|FKBP8_uc010ebr.1_Missense_Mutation_p.P29L|FKBP8_uc002njn.2_RNA	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	FK506-binding protein 8	190	PPIase FKBP-type.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			ovary(1)	1						GGCCGCGTGCGGGGGGATGTA	0.682													A	18649226	G	A	18649226	3	1	94	1	0	0	0	0	1	0	0	0	5914	1116	39	1	689	1	FKBP8	19	18649226	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	257935	18649226	40479757	3138	62271											
FKBP8	23770	broad.mit.edu	37	chr19	18652683	18652683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttcctcctcaccctctGcatcctcaaccccatccagt	2	22	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:18652683G>A	uc002njk.1	-	2	211	c.98C>T	c.(97-99)GCA>GTA	p.A33V	FKBP8_uc002nji.1_5'Flank|FKBP8_uc010xqi.1_Missense_Mutation_p.A62V|FKBP8_uc002njj.1_Missense_Mutation_p.A33V|FKBP8_uc002njl.1_Missense_Mutation_p.A33V|FKBP8_uc002njm.1_Missense_Mutation_p.A33V|FKBP8_uc010ebr.1_5'UTR|FKBP8_uc002njn.2_RNA	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	FK506-binding protein 8	33	Glu-rich.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			ovary(1)	1						ctcACCCTCTGCATCCTCAAC	0.542													A	18652683	G	A	18652683	3	1	94	1	0	0	0	0	1	0	0	0	5914	1319	46	2	1175	2	FKBP8	19	18652683	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3457	18652683	40476300	3139	62272											
HOMER3	9454	broad.mit.edu	37	chr19	19042329	19042329	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcacctggtccttggTttgcaccagagcttccagct	10	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:19042329T>C	uc002nku.2	-	7	1449	c.796A>G	c.(796-798)ACC>GCC	p.T266A	HOMER3_uc002nko.1_RNA|HOMER3_uc002nkp.1_RNA|HOMER3_uc010eby.2_Missense_Mutation_p.T230A|HOMER3_uc010ebz.2_Missense_Mutation_p.T266A|HOMER3_uc002nkw.2_Missense_Mutation_p.T266A|HOMER3_uc002nkv.2_Missense_Mutation_p.T266A	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Homer, neuronal immediate early gene, 3 isoform	266	Potential.				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding				0			Epithelial(12;0.0107)			TGGTCCTTGGTTTGCACCAGA	0.637													C	19042329	T	C	19042329	3	2	94	1	0	0	0	0	1	0	0	0	7280	1725	60	3	301	3	HOMER3	19	19042329	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	389646	19042329	40086654	3140	62273											
CILP2	148113	broad.mit.edu	37	chr19	19655251	19655251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttcgtggacagcgacggcGagctggctccactgcgcacc	14	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:19655251G>A	uc002nmv.3	+	8	1982	c.1897G>A	c.(1897-1899)GAG>AAG	p.E633K	CILP2_uc002nmw.3_Missense_Mutation_p.E639K	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	633						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						CAGCGACGGCGAGCTGGCTCC	0.736													A	19655251	G	A	19655251	3	1	94	1	0	0	0	0	1	0	0	0	3430	1059	37	1	1927	1	CILP2	19	19655251	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	612922	19655251	39473732	3141	62274											
PBX4	80714	broad.mit.edu	37	chr19	19680322	19680322	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcgctggggtaagggTtgttcagatgggagtaaaaa	14	5	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:19680322T>C	uc002nmy.2	-	5	705	c.704A>G	c.(703-705)AAC>AGC	p.N235S	PBX4_uc010xqz.1_RNA|PBX4_uc010xra.1_Missense_Mutation_p.N70S	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	235	Homeobox; TALE-type.						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						GGGGTAAGGGTTGTTCAGATG	0.572													C	19680322	T	C	19680322	3	2	94	1	0	0	0	0	1	0	0	0	11495	1725	60	3	436	3	PBX4	19	19680322	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	25071	19680322	39448661	3142	62275											
LPAR2	9170	broad.mit.edu	37	chr19	19737709	19737709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccatcacactgcggtgccGctccacggcgatggccagca	13	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:19737709G>A	uc002nnb.3	-	2	524	c.385C>T	c.(385-387)CGG>TGG	p.R129W	LPAR2_uc002nna.3_Missense_Mutation_p.R129W|LPAR2_uc002nnc.3_Missense_Mutation_p.R129W	NM_004720	NP_004711	Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	129	Cytoplasmic (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			ovary(1)|breast(1)	2						CTGCGGTGCCGCTCCACGGCG	0.687													A	19737709	G	A	19737709	3	1	94	1	0	0	0	0	1	0	0	0	8905	1086	38	1	678	1	LPAR2	19	19737709	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	57387	19737709	39391274	3143	62276											
GMIP	51291	broad.mit.edu	37	chr19	19748194	19748194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttcaaggagggaaggaaCtcctggaaggagaaggcggg	18	6	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:19748194C>T	uc002nnd.2	-	11	1221	c.1104G>A	c.(1102-1104)GAG>GAA	p.E368E	GMIP_uc010xrb.1_Silent_p.E368E|GMIP_uc010xrc.1_Silent_p.E368E	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	368	Pro-rich.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						AGGGAAGGAACTCCTGGAAGG	0.493													T	19748194	C	T	19748194	2	4	94	1	0	0	0	0	0	0	0	1	6491	564	20	4		4	GMIP	19	19748194	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	10485	19748194	39380789	3144	62277											
ATP13A1	57130	broad.mit.edu	37	chr19	19766239	19766239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagaaacagcttgtagcGgttccggctggggtccttgg	14	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:19766239G>A	uc002nnh.3	-	11	1448	c.1420C>T	c.(1420-1422)CGC>TGC	p.R474C	ATP13A1_uc002nnf.3_5'UTR|ATP13A1_uc002nng.2_Missense_Mutation_p.R356C	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	474	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						AGCTTGTAGCGGTTCCGGCTG	0.652													A	19766239	G	A	19766239	3	1	94	1	0	0	0	0	1	0	0	0	1123	1116	39	1	2258	1	ATP13A1	19	19766239	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	18045	19766239	39362744	3145	62278											
ZNF708	7562	broad.mit.edu	37	chr19	21476766	21476766	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcttcacatttgtagggTttctcaccagtatgaatcct	6	10	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:21476766T>C	uc002npq.1	-	4	1200	c.1002A>G	c.(1000-1002)AAA>AAG	p.K334K	ZNF708_uc002npr.1_Silent_p.K270K|ZNF708_uc010ecs.1_Silent_p.K270K	NM_021269	NP_067092	P17019	ZN708_HUMAN	zinc finger protein 708	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(4)|skin(2)	6						ATTTGTAGGGTTTCTCACCAG	0.373													C	21476766	T	C	21476766	2	2	94	1	0	0	0	0	0	0	0	1	18109	1722	60	3		3	ZNF708	19	21476766	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1710527	21476766	37652217	3146	62279											
ZNF493	284443	broad.mit.edu	37	chr19	21606876	21606876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtggcaaagcttttaaacGatcttcaacccttactaaac	5	10	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:21606876G>A	uc002npx.2	+	2	1311	c.1031G>A	c.(1030-1032)CGA>CAA	p.R344Q	ZNF493_uc002npw.2_Missense_Mutation_p.R472Q|ZNF493_uc002npy.2_Missense_Mutation_p.R344Q	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 1	344	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GCTTTTAAACGATCTTCAACC	0.333													A	21606876	G	A	21606876	3	1	94	1	0	0	0	0	1	0	0	0	17941	1058	37	1	1492	1	ZNF493	19	21606876	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	130110	21606876	37522107	3147	62280											
ZNF100	163227	broad.mit.edu	37	chr19	21927839	21927839	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccactcctccagagagaattCtatggccacatccctaaacg	6	15	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:21927839C>T	uc002nqi.2	-	3	326	c.127G>A	c.(127-129)GAA>AAA	p.E43K	ZNF100_uc002nqh.2_5'UTR	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGAGAGAATTCTATGGCCACA	0.448													T	21927839	C	T	21927839	3	4	94	1	0	0	0	0	1	0	0	0	17710	922	32	4	1513	4	ZNF100	19	21927839	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	320963	21927839	37201144	3148	62281											
ZNF257	113835	broad.mit.edu	37	chr19	22271242	22271242	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggagagaaaccctacaaAtgtgaagagtgtggaaaagc	12	6	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:22271242A>G	uc010ecx.2	+	4	859	c.690A>G	c.(688-690)AAA>AAG	p.K230K	ZNF257_uc010ecy.2_Silent_p.K198K	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	230	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				AACCCTACAAATGTGAAGAGT	0.413													G	22271242	A	G	22271242	2	3	94	1	0	0	0	0	0	0	0	1	17797	98	4	3		3	ZNF257	19	22271242	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	343403	22271242	36857741	3149	62282											
ZNF536	9745	broad.mit.edu	37	chr19	30935266	30935266	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgccagcgtgcaggaggAcgcggtggccccggcggcgg	20	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:30935266A>G	uc002nsu.1	+	2	935	c.797A>G	c.(796-798)GAC>GGC	p.D266G	ZNF536_uc010edd.1_Missense_Mutation_p.D266G	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GTGCAGGAGGACGCGGTGGCC	0.706													G	30935266	A	G	30935266	3	3	94	1	0	0	0	0	1	0	0	0	17971	275	10	3	799	3	ZNF536	19	30935266	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	8664024	30935266	28193717	3150	62283											
ZNF536	9745	broad.mit.edu	37	chr19	30936402	30936402	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgttccgcacttaccacCaggtggtcgtgcactcccgt	12	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:30936402C>T	uc002nsu.1	+	2	2071	c.1933C>T	c.(1933-1935)CAG>TAG	p.Q645*	ZNF536_uc010edd.1_Nonsense_Mutation_p.Q645*	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	645	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CACTTACCACCAGGTGGTCGT	0.652													T	30936402	C	T	30936402	4	4	94	1	0	0	0	0	0	1	0	0	17971	595	21	4	1935	4	ZNF536	19	30936402	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1136	30936402	28192581	3151	62284											
ZNF536	9745	broad.mit.edu	37	chr19	31039824	31039824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtgcatggaccggccacGtggaccctgcattttgtaac	13	12	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:31039824G>A	uc002nsu.1	+	4	3436	c.3298G>A	c.(3298-3300)GTG>ATG	p.V1100M	ZNF536_uc010edd.1_Missense_Mutation_p.V1100M	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GACCGGCCACGTGGACCCTGC	0.537													A	31039824	G	A	31039824	3	1	94	1	0	0	0	0	1	0	0	0	17971	1145	40	1	3308	1	ZNF536	19	31039824	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	103422	31039824	28089159	3152	62285											
WDR88	126248	broad.mit.edu	37	chr19	33623225	33623225	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttcaagctgtcgatcccGcacacgcacctgctggccac	9	18	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:33623225G>A	uc002nui.2	+	1	228	c.150G>A	c.(148-150)CCG>CCA	p.P50P		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	50										ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					TGTCGATCCCGCACACGCACC	0.652													A	33623225	G	A	33623225	2	1	94	1	0	0	0	0	0	0	0	1	17332	1074	38	1		1	WDR88	19	33623225	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2583401	33623225	25505758	3153	62286											
KCTD15	79047	broad.mit.edu	37	chr19	34292175	34292175	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcaccaagtccaatgcacCtgtgcacatcgatgtgggcg	11	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:34292175C>A	uc002nuy.3	+	4	438	c.170C>A	c.(169-171)CCT>CAT	p.P57H	KCTD15_uc002nuv.2_Missense_Mutation_p.P57H|KCTD15_uc002nuw.3_Missense_Mutation_p.P57H|KCTD15_uc010xrt.1_Missense_Mutation_p.P57H|KCTD15_uc002nux.3_Missense_Mutation_p.P57H	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	57	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)					TCCAATGCACCTGTGCACATC	0.617													A	34292175	C	A	34292175	3	1	94	1	0	0	0	0	1	0	0	0	8102	681	24	5	176	5	KCTD15	19	34292175	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	668950	34292175	24836808	3154	62287											
WTIP	126374	broad.mit.edu	37	chr19	34984489	34984489	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggttcccttcaccgtggaCgtggagaacaacatctactg	12	11	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:34984489C>T	uc002nvm.2	+	5	993	c.993C>T	c.(991-993)GAC>GAT	p.D331D		NM_001080436	NP_001073905			Wilms tumor 1 interacting protein												0	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TCACCGTGGACGTGGAGAACA	0.632													T	34984489	C	T	34984489	2	4	94	1	0	0	0	0	0	0	0	1	17407	535	19	1		1	WTIP	19	34984489	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	692314	34984489	24144494	3155	62288											
SCN1B	6324	broad.mit.edu	37	chr19	35523454	35523454	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcagcctgcgggggctgCgtggaggtggactcggagac	18	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:35523454C>T	uc002nxp.2	+	2	254	c.63C>T	c.(61-63)TGC>TGT	p.C21C	SCN1B_uc002nxo.1_Silent_p.C21C|SCN1B_uc010xsg.1_Silent_p.C21C	NM_001037	NP_001028	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta	21	Extracellular (Potential).				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			ovary(1)|central_nervous_system(1)	2	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCGGGGGCTGCGTGGAGGTGG	0.597													T	35523454	C	T	35523454	2	4	94	1	0	0	0	0	0	0	0	1	13915	776	27	1		1	SCN1B	19	35523454	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	538965	35523454	23605529	3156	62289											
LGI4	163175	broad.mit.edu	37	chr19	35616218	35616218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcacggggggccaccaggGccggaggccccagctcctgc	17	16	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:35616218G>A	uc002nxx.2	-	9	2087	c.1493C>T	c.(1492-1494)GCC>GTC	p.A498V	LGI4_uc002nxy.1_Missense_Mutation_p.A326V|LGI4_uc002nxz.1_3'UTR	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	498						extracellular region				pancreas(1)	1	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GGCCACCAGGGCCGGAGGCCC	0.642													A	35616218	G	A	35616218	3	1	94	1	0	0	0	0	1	0	0	0	8754	1203	42	2	124	2	LGI4	19	35616218	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	92764	35616218	23512765	3157	62290											
FAM187B	148109	broad.mit.edu	37	chr19	35715961	35715961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggtttgaactgggccaCgagctcctgctgcacgaagc	15	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:35715961C>T	uc002nyk.1	-	2	922	c.877G>A	c.(877-879)GTG>ATG	p.V293M		NM_152481	NP_689694	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	293	Extracellular (Potential).					integral to membrane				ovary(2)	2						AACTGGGCCACGAGCTCCTGC	0.662													T	35715961	C	T	35715961	3	4	94	1	0	0	0	0	1	0	0	0	5513	536	19	1	236	1	FAM187B	19	35715961	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	99743	35715961	23413022	3158	62291											
LSR	51599	broad.mit.edu	37	chr19	35758063	35758063	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgactggcgatctcggccttCccggggccctgccctcaccc	11	20	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:35758063C>A	uc002nyl.2	+	9	1563	c.1340C>A	c.(1339-1341)TCC>TAC	p.S447Y	LSR_uc002nym.2_Missense_Mutation_p.S428Y|LSR_uc002nyn.2_Missense_Mutation_p.S379Y|LSR_uc002nyo.2_Missense_Mutation_p.S427Y|LSR_uc010xsr.1_Missense_Mutation_p.S339Y|LSR_uc002nyp.2_Missense_Mutation_p.S389Y|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyu.1_5'Flank|USF2_uc002nyv.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	447	Cytoplasmic (Potential).				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCTCGGCCTTCCCGGGGCCCT	0.701													A	35758063	C	A	35758063	3	1	94	1	0	0	0	0	1	0	0	0	9064	855	30	5	1374	5	LSR	19	35758063	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	42102	35758063	23370920	3159	62292											
FFAR2	2867	broad.mit.edu	37	chr19	35941379	35941379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaaaaagcccctggtggCggtcaatagccgtggtgttc	14	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:35941379C>T	uc002nzg.2	+	2	843	c.763C>T	c.(763-765)CGG>TGG	p.R255W	FFAR2_uc010eea.2_Missense_Mutation_p.R255W	NM_005306	NP_005297	O15552	FFAR2_HUMAN	free fatty acid receptor 2	255	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding			central_nervous_system(1)	1	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCCCTGGTGGCGGTCAATAGC	0.572													T	35941379	C	T	35941379	3	4	94	1	0	0	0	0	1	0	0	0	5828	759	27	1	765	1	FFAR2	19	35941379	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	183316	35941379	23187604	3160	62293											
ATP4A	495	broad.mit.edu	37	chr19	36046156	36046156	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcatctgagccagcgatGcccatggctactccgatgtc	11	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36046156G>A	uc002oal.1	-	15	2267	c.2238C>T	c.(2236-2238)GGC>GGT	p.G746G	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	746	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	AGCCAGCGATGCCCATGGCTA	0.592													A	36046156	G	A	36046156	2	1	94	1	0	0	0	0	0	0	0	1	1145	1306	46	2		2	ATP4A	19	36046156	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	104777	36046156	23082827	3161	62294											
HAUS5	23354	broad.mit.edu	37	chr19	36105982	36105982	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaagctgctgtgacccgCctgcgggcagaaatccagga	14	12	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36105982C>T	uc002oam.1	+	5	309	c.258C>T	c.(256-258)CGC>CGT	p.R86R		NM_015302	NP_056117	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	86	Potential.				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle					0						CTGTGACCCGCCTGCGGGCAG	0.602													T	36105982	C	T	36105982	2	4	94	1	0	0	0	0	0	0	0	1	6969	726	26	2		2	HAUS5	19	36105982	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	59826	36105982	23023001	3162	62295											
MLL2	8085	broad.mit.edu	37	chr19	36210764	36210765	+	Frame_Shift_Ins	INS	-	-	C													ctagcagatgtggctcctacINSccccccaaagacccctgccc					rs60207923	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36210763_36210764A>AC	uc021usv.1	+	2	514_515	c.514_515A>AC	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAAG	0.634			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			C	36210765	-	C	36210764	7	5	94	1	0	1	1	0	0	0	0	0	9621	507	18	0		0	MLL2	19	36210764	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	104782	36210764	22918219	3163	62296											
ARHGAP33	115703	broad.mit.edu	37	chr19	36268609	36268610	+	Frame_Shift_Ins	INS	-	-	G													tgcagcctctacccactgctINSggggggcccagtgtgaaggg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36268609_36268610insG	uc002obr.1	+	2	154_155	c.69_70insG	c.(67-72)GCTGGGfs	p.A23fs	ARHGAP33_uc002obs.1_Frame_Shift_Ins_p.A23fs|ARHGAP33_uc002obt.1_Intron|ARHGAP33_uc010eek.1_Frame_Shift_Ins_p.A41fs	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	23_24					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						TACCCACTGCTGGGGGGCCCAG	0.639													G	36268610	-	G	36268609	7	5	94	1	0	1	1	0	0	0	0	0	882	1567	55	0	75	0	ARHGAP33	19	36268609	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	57845	36268609	22860374	3164	62297	298	2									
ARHGAP33	115703	broad.mit.edu	37	chr19	36268610	36268611	+	Frame_Shift_Ins	INS	-	-	G													gcagcctctacccactgctgINSgggggcccagtgtgaagggg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36268609_36268610T>TG	uc002obs.2	+	1	213_214	c.69_70T>TG	c.(67-72)gctgggfs	p.A23fs	ARHGAP33_uc002obr.2_Frame_Shift_Ins_p.A23fs|ARHGAP33_uc002obt.2_Intron|ARHGAP33_uc010eek.2_Frame_Shift_Ins_p.A41fs	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	23					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TACCCACTGCTGGGGGGCCCAG	0.639													G	36268611	-	G	36268610	7	5	94	1	0	1	1	0	0	0	0	0	882	1348	47	0	76	0	ARHGAP33	19	36268610	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	36268610	22860373	3165	62298	298	2									
PRODH2	58510	broad.mit.edu	37	chr19	36293939	36293939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcacatggggccatggCgggccacgtgcgtcagcatc	17	12	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36293939C>T	uc002obx.1	-	9	1289	c.1271G>A	c.(1270-1272)CGC>CAC	p.R424H		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	kidney and liver proline oxidase 1	424					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			ovary(2)	2	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGGCCATGGCGGGCCACGTG	0.612													T	36293939	C	T	36293939	3	4	94	1	0	0	0	0	1	0	0	0	12549	768	27	1	351	1	PRODH2	19	36293939	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	25329	36293939	22835044	3166	62299											
KIRREL2	84063	broad.mit.edu	37	chr19	36352086	36352087	+	Frame_Shift_Del	DEL	TG	TG	-													cccgaggacgcaggcgactaTgtgtgcagagctgaggctgg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36352086_36352087delTG	uc002ocb.3	+	9	1331_1332	c.1119_1120delTG	c.(1117-1122)TATGTGfs	p.Y373fs	KIRREL2_uc002obz.3_Frame_Shift_Del_p.Y373fs|KIRREL2_uc002oca.3_Frame_Shift_Del_p.Y323fs|KIRREL2_uc002occ.3_Frame_Shift_Del_p.Y320fs|KIRREL2_uc002ocd.3_Frame_Shift_Del_p.Y370fs	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	373_374	Extracellular (Potential).|Ig-like C2-type 4.				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGGCGACTATGTGTGCAGAGC	0.678													-	36352087	TG	-	36352086	7	5	94	1	0	1	0	1	0	0	0	0	8325	1471	51	0	1153	0	KIRREL2	19	36352086	Frame_Shift_Del	DEL	TG	TCGA-BR-8487-01A-11D-2394-08	58147	36352086	22776897	3167	62300											
KIRREL2	84063	broad.mit.edu	37	chr19	36357214	36357214	+	Frame_Shift_Del	DEL	C	C	-													aacccacacctgggcatggtCcccccctgcagactttacag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36357213_36357213TC>T	uc002ocb.4	+	14	2158	c.1946_1946TC>T	c.(1945-1947)gtcfs	p.V649fs	KIRREL2_uc002obz.4_Intron|KIRREL2_uc002oca.4_Intron|KIRREL2_uc002ocd.4_Frame_Shift_Del_p.V611fs|APLP1_uc010xsz.2_5'Flank|APLP1_uc002oce.3_5'Flank|APLP1_uc002ocf.3_5'Flank|APLP1_uc002ocg.3_5'Flank	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	649	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGGCATGGTCCCCCCCTGC	0.627													-	36357214	C	-	36357214	7	5	94	1	0	1	0	1	0	0	0	0	8325	842	30	0	2005	0	KIRREL2	19	36357214	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	5128	36357214	22771769	3168	62301											
LRFN3	79414	broad.mit.edu	37	chr19	36431147	36431147	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acgacctcgaggcctgcgcgTccccacctgctctgggcggc	13	18	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36431147T>A	uc002oco.2	+	2	1272	c.820T>A	c.(820-822)TCC>ACC	p.S274T		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	274	LRRCT.|Extracellular (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGCCTGCGCGTCCCCACCTGC	0.701													A	36431147	T	A	36431147	3	1	94	1	0	0	0	0	1	0	0	0	8939	1667	58	5	822	5	LRFN3	19	36431147	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	73933	36431147	22697836	3169	62302											
LRFN3	79414	broad.mit.edu	37	chr19	36435683	36435683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcggcgtcatcgtagcctCggtactggtcttcatcttcg	13	12	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36435683C>T	uc002oco.2	+	3	2101	c.1649C>T	c.(1648-1650)TCG>TTG	p.S550L		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	550	Helical; (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ATCGTAGCCTCGGTACTGGTC	0.667													T	36435683	C	T	36435683	3	4	94	1	0	0	0	0	1	0	0	0	8939	893	31	1	1655	1	LRFN3	19	36435683	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4536	36435683	22693300	3170	62303											
WDR62	284403	broad.mit.edu	37	chr19	36594542	36594542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcaggccatcaccaccgCgacaacacccagtttggaca	8	16	2	0	rs111294536	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36594542C>T	uc002odc.2	+	30	3888	c.3797C>T	c.(3796-3798)GCG>GTG	p.A1266V	WDR62_uc002odd.2_Missense_Mutation_p.A1271V	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1266	WD 15.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ATCACCACCGCGACAACACCC	0.667													T	36594542	C	T	36594542	3	4	94	1	0	0	0	0	1	0	0	0	17310	768	27	1	3930	1	WDR62	19	36594542	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	158859	36594542	22534441	3171	62304											
ZNF565	147929	broad.mit.edu	37	chr19	36686014	36686014	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttccaggcacttccattcTtccagagagaactctatggc	9	12	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36686014T>C	uc002odn.2	-	3	162	c.54A>G	c.(52-54)GAA>GAG	p.E18E	ZNF565_uc010ees.2_5'UTR|ZNF565_uc002odo.2_Silent_p.E18E|ZNF565_uc002odp.1_Silent_p.E18E	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	zinc finger protein 565	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			ACTTCCATTCTTCCAGAGAGA	0.443													C	36686014	T	C	36686014	2	2	94	1	0	0	0	0	0	0	0	1	17993	1606	56	3		3	ZNF565	19	36686014	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	91472	36686014	22442969	3172	62305											
ZFP82	284406	broad.mit.edu	37	chr19	36883660	36883660	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcttagatttttacattatGaattttcagatgatgagtaa	6	3	2	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36883660G>A	uc002ody.1	-	5	1817	c.1582C>T	c.(1582-1584)CAT>TAT	p.H528Y		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	zinc finger protein 82 homolog	528	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						TTTACATTATGAATTTTCAGA	0.328													A	36883660	G	A	36883660	3	1	94	1	0	0	0	0	1	0	0	0	17650	1290	45	4	20	4	ZFP82	19	36883660	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	197646	36883660	22245323	3173	62306											
ZNF382	84911	broad.mit.edu	37	chr19	37118176	37118176	+	Frame_Shift_Del	DEL	G	G	-													ctccaccagagaattcacacGggggaaaaaccctatatttg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:37118175_37118175CG>C	uc002oek.3	+	4	1489	c.1376_1376CG>C	c.(1375-1377)acgfs	p.T459fs	ZNF382_uc010efa.3_Frame_Shift_Del_p.T410fs|ZNF382_uc010efb.3_Frame_Shift_Del_p.T458fs|ZNF382_uc002oel.3_Frame_Shift_Del_p.T458fs	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	Homo sapiens zinc finger protein 382 (ZNF382), mRNA.	459	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T459T(3)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAATTCACACGGGGGAAAAA	0.438													-	37118176	G	-	37118176	7	5	94	1	0	1	0	1	0	0	0	0	17870	1103	39	0	1387	0	ZNF382	19	37118176	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	234516	37118176	22010807	3174	62307											
ZNF345	25850	broad.mit.edu	37	chr19	37368503	37368504	+	Frame_Shift_Del	DEL	AT	AT	-													attcataccggtgagaaaccAtatatatgtaatgaatgtgg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:37368503_37368504delAT	uc002oex.2	+	3	1149_1150	c.771_772delAT	c.(769-774)CCATATfs	p.P257fs	ZNF345_uc002oey.3_Frame_Shift_Del_p.P257fs|ZNF345_uc002oez.2_Intron	NM_003419	NP_003410	Q14585	ZN345_HUMAN	zinc finger protein 345	257_258	C2H2-type 8.				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGAGAAACCATATATATGTAA	0.406													-	37368504	AT	-	37368503	7	5	94	1	0	1	0	1	0	0	0	0	17856	204	8	0	773	0	ZNF345	19	37368503	Frame_Shift_Del	DEL	AT	TCGA-BR-8487-01A-11D-2394-08	250327	37368503	21760480	3175	62308											
ZNF585A	199704	broad.mit.edu	37	chr19	37643977	37643977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggatgaaggcctgtccgCattcaatacagatgtaggat	11	8	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:37643977C>T	uc002ofo.1	-	5	1055	c.824G>A	c.(823-825)TGC>TAC	p.C275Y	ZNF585A_uc002ofm.1_Missense_Mutation_p.C220Y|ZNF585A_uc002ofn.1_Missense_Mutation_p.C220Y	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	275	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGCCTGTCCGCATTCAATACA	0.433													T	37643977	C	T	37643977	3	4	94	1	0	0	0	0	1	0	0	0	18014	710	25	2	1489	2	ZNF585A	19	37643977	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	275474	37643977	21485006	3176	62309											
ZNF585B	92285	broad.mit.edu	37	chr19	37676233	37676233	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccagtgtgtgttgtctgatGtttattcaaattggacctgt	10	6	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:37676233G>C	uc002ofq.2	-	5	2460	c.2206C>G	c.(2206-2208)CAT>GAT	p.H736D	uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Missense_Mutation_p.H550D	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	zinc finger protein 585B	736	C2H2-type 20.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTTGTCTGATGTTTATTCAAA	0.483													C	37676233	G	C	37676233	3	2	94	1	0	0	0	0	1	0	0	0	18015	1377	48	5	107	5	ZNF585B	19	37676233	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	32256	37676233	21452750	3177	62310											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572477	38572477	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgactggccgcccaagcgggAggccctgagagagcacagca	15	14	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:38572477A>G	uc002ohk.2	+	3	781	c.272A>G	c.(271-273)GAG>GGG	p.E91G		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	91					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCCAAGCGGGAGGCCCTGAGA	0.577													G	38572477	A	G	38572477	3	3	94	1	0	0	0	0	1	0	0	0	14331	304	11	3	274	3	SIPA1L3	19	38572477	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	896244	38572477	20556506	3178	62311											
CATSPERG	57828	broad.mit.edu	37	chr19	38849098	38849098	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattggagttcctgatgatcCtagggacagagtcctacacc	11	10	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:38849098C>A	uc002oih.3	+	13	1480	c.1393C>A	c.(1393-1395)CTA>ATA	p.L465I	CATSPERG_uc002oig.3_Missense_Mutation_p.L425I|CATSPERG_uc002oif.3_Missense_Mutation_p.L105I|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	465	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						CCTGATGATCCTAGGGACAGA	0.572													A	38849098	C	A	38849098	3	1	94	1	0	0	0	0	1	0	0	0	2692	680	24	5	1439	5	CATSPERG	19	38849098	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	276621	38849098	20279885	3179	62312											
RASGRP4	115727	broad.mit.edu	37	chr19	38901993	38901993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccccactcaccccgacagCggtagccttgcttggtgaca	9	17	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:38901993C>T	uc002oir.2	-	14	1923	c.1709G>A	c.(1708-1710)CGC>CAC	p.R570H	RASGRP4_uc010efz.1_RNA|RASGRP4_uc010ega.1_RNA|RASGRP4_uc010xua.1_Missense_Mutation_p.R501H|RASGRP4_uc010xub.1_Missense_Mutation_p.R536H|RASGRP4_uc010xuc.1_Missense_Mutation_p.R478H|RASGRP4_uc010xud.1_Missense_Mutation_p.R473H|RASGRP4_uc010xue.1_Missense_Mutation_p.R381H|RASGRP4_uc010egb.2_Missense_Mutation_p.R556H	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4 isoform a	570	Phorbol-ester/DAG-type.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			pancreas(1)|lung(1)|skin(1)	3	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACCCCGACAGCGGTAGCCTTG	0.622													T	38901993	C	T	38901993	3	4	94	1	0	0	0	0	1	0	0	0	13077	768	27	1	328	1	RASGRP4	19	38901993	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	52895	38901993	20226990	3180	62313											
RYR1	6261	broad.mit.edu	37	chr19	38980033	38980033	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggggagaaagaagaaggcTtggaggaagggctgctccag	18	5	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:38980033T>C	uc002oit.2	+	35	5894	c.5764T>C	c.(5764-5766)TTG>CTG	p.L1922L	RYR1_uc002oiu.2_Silent_p.L1922L	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1922	Glu-rich (acidic).|Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGAAGAAGGCTTGGAGGAAGG	0.353													C	38980033	T	C	38980033	2	2	94	1	0	0	0	0	0	0	0	1	13768	1606	56	3		3	RYR1	19	38980033	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	78040	38980033	20148950	3181	62314											
RYR1	6261	broad.mit.edu	37	chr19	39002998	39002998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgcggctgggcaaggtgtCgcaggcgcgcacccaggtga	17	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:39002998C>T	uc002oit.2	+	63	9477	c.9347C>T	c.(9346-9348)TCG>TTG	p.S3116L	RYR1_uc002oiu.2_Missense_Mutation_p.S3116L|RYR1_uc002oiv.1_Missense_Mutation_p.S36L|RYR1_uc010xuf.1_Missense_Mutation_p.S36L	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3116	Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCAAGGTGTCGCAGGCGCGC	0.637													T	39002998	C	T	39002998	3	4	94	1	0	0	0	0	1	0	0	0	13768	893	31	1	9597	1	RYR1	19	39002998	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	22965	39002998	20125985	3182	62315											
RYR1	6261	broad.mit.edu	37	chr19	39034443	39034443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaccagcagagcctggcGcacagtcgcctatgggacgc	15	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:39034443G>A	uc002oit.2	+	87	12070	c.11940G>A	c.(11938-11940)GCG>GCA	p.A3980A	RYR1_uc002oiu.2_Silent_p.A3975A|RYR1_uc002oiv.1_Silent_p.A889A	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3980					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGAGCCTGGCGCACAGTCGCC	0.642													A	39034443	G	A	39034443	2	1	94	1	0	0	0	0	0	0	0	1	13768	1074	38	1		1	RYR1	19	39034443	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	31445	39034443	20094540	3183	62316											
SARS2	54938	broad.mit.edu	37	chr19	39406305	39406305	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctggttggggccgatgtActggagaggcacgtgggtag	21	6	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:39406305A>G	uc002oka.2	-	16	1658	c.1498T>C	c.(1498-1500)TAC>CAC	p.Y500H	SARS2_uc002ojz.2_Missense_Mutation_p.Y310H|SARS2_uc010xup.1_Missense_Mutation_p.Y502H|SARS2_uc002okb.2_Missense_Mutation_p.Y500H|SARS2_uc010xuq.1_Missense_Mutation_p.Y500H	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2 isoform b precursor	500					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGCCGATGTACTGGAGAGGC	0.657													G	39406305	A	G	39406305	3	3	94	1	0	0	0	0	1	0	0	0	13845	391	14	3	62	3	SARS2	19	39406305	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	371862	39406305	19722678	3184	62317											
NCCRP1	342897	broad.mit.edu	37	chr19	39691347	39691347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggagcctggtgggctgcGgcggacacgggtgaccgact	18	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:39691347G>A	uc002okq.1	+	6	798	c.779G>A	c.(778-780)CGG>CAG	p.R260Q		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1	260	FBA.				protein catabolic process					ovary(1)	1						GGTGGGCTGCGGCGGACACGG	0.622													A	39691347	G	A	39691347	3	1	94	1	0	0	0	0	1	0	0	0	10213	1116	39	1	801	1	NCCRP1	19	39691347	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	285042	39691347	19437636	3185	62318											
LRFN1	57622	broad.mit.edu	37	chr19	39799138	39799138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcgtaggcacggcccgccGccaggtcattcaccaggaag	13	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:39799138G>A	uc002okw.2	-	2	1451	c.1451C>T	c.(1450-1452)GCG>GTG	p.A484V		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	484	Fibronectin type-III.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			ACGGCCCGCCGCCAGGTCATT	0.672													A	39799138	G	A	39799138	3	1	94	1	0	0	0	0	1	0	0	0	8937	1087	38	1	868	1	LRFN1	19	39799138	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	107791	39799138	19329845	3186	62319											
SAMD4B	55095	broad.mit.edu	37	chr19	39867347	39867347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgcccttatcacagaaCgtcaccaaaggtgcccgcca	7	16	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:39867347C>T	uc002olb.2	+	9	2055	c.1020C>T	c.(1018-1020)AAC>AAT	p.N340N	SAMD4B_uc002ola.2_Silent_p.N340N	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	340	SAM.						protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TATCACAGAACGTCACCAAAG	0.542													T	39867347	C	T	39867347	2	4	94	1	0	0	0	0	0	0	0	1	13822	535	19	1		1	SAMD4B	19	39867347	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	68209	39867347	19261636	3187	62320											
ZFP36	7538	broad.mit.edu	37	chr19	39899071	39899071	+	Frame_Shift_Del	DEL	C	C	-													cttctctgctgcccctggcaCccccctggctcgaagagacc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:39899070_39899070AC>A	uc002olh.1	+	1	770	c.712_712AC>A	c.(712-714)accfs	p.T238fs		NM_003407	NP_003398	P26651	TTP_HUMAN	Homo sapiens zinc finger protein 36, C3H type, homolog (mouse) (ZFP36), mRNA.	238					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGCCCCTGGCACCCCCCTGGC	0.682													-	39899071	C	-	39899071	7	5	94	1	0	1	0	1	0	0	0	0	17642	507	18	0	719	0	ZFP36	19	39899071	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	31724	39899071	19229912	3188	62321											
SUPT5H	6829	broad.mit.edu	37	chr19	39960890	39960890	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggagaatttcgttatcctGttctctgacctcaccatgca	8	11	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:39960890G>A	uc002olo.3	+	17	1685	c.1506G>A	c.(1504-1506)CTG>CTA	p.L502L	SUPT5H_uc002olp.3_Silent_p.L502L|SUPT5H_uc002olq.3_Silent_p.L498L|SUPT5H_uc002oln.3_Silent_p.L502L|SUPT5H_uc002olr.3_Silent_p.L502L|SUPT5H_uc002ols.1_Silent_p.L125L|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	502	KOW 3.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCGTTATCCTGTTCTCTGACC	0.572													A	39960890	G	A	39960890	2	1	94	1	0	0	0	0	0	0	0	1	15396	1364	48	4		4	SUPT5H	19	39960890	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	61819	39960890	19168093	3189	62322											
FBL	2091	broad.mit.edu	37	chr19	40325193	40325193	+	Frame_Shift_Del	DEL	G	G	-													gaacttcagttcttcaccttGgggggtggcctgtgagagga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:40325192_40325192TG>T	uc002omn.3	-	8	1066	c.952_952CA>A	c.(952-954)aagfs	p.K318fs	DYRK1B_uc002omi.3_5'Flank|DYRK1B_uc002omj.3_5'Flank|DYRK1B_uc002omk.3_5'Flank|DYRK1B_uc002oml.3_5'Flank|FBL_uc002omm.1_3'UTR	NM_001436	NP_001427	P22087	FBRL_HUMAN	Homo sapiens fibrillarin (FBL), mRNA.	318					rRNA processing|tRNA processing	Cajal body|box C/D snoRNP complex	RNA binding|methyltransferase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TTCTTCACCTTGGGGGGTGGC	0.507													-	40325193	G	-	40325193	7	5	94	1	0	1	0	1	0	0	0	0	5696	1335	47	0	18	0	FBL	19	40325193	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	364303	40325193	18803790	3190	62323											
FCGBP	8857	broad.mit.edu	37	chr19	40419887	40419887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctccacagccgggcctcGtctcttcttgccagctgttc	9	16	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:40419887G>A	uc002omp.3	-	6	3115	c.3107C>T	c.(3106-3108)ACG>ATG	p.T1036M		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	1036	VWFD 2.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCGGGCCTCGTCTCTTCTTG	0.612													A	40419887	G	A	40419887	3	1	94	1	0	0	0	0	1	0	0	0	5778	1145	40	1	13234	1	FCGBP	19	40419887	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	94694	40419887	18709096	3191	62324											
TTC9B	148014	broad.mit.edu	37	chr19	40723198	40723198	+	Frame_Shift_Del	DEL	C	C	-													ggtaggtggccttgaagttgCcctgctgcttctccagtacc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:40723198delC	uc002onc.2	-	2	524	c.506delG	c.(505-507)GGCfs	p.G169fs		NM_152479	NP_689692	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	169							binding				0						CTTGAAGTTGCCCTGCTGCTT	0.672													-	40723198	C	-	40723198	7	5	94	1	0	1	0	1	0	0	0	0	16713	739	26	0	221	0	TTC9B	19	40723198	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	303311	40723198	18405785	3192	62325											
SPTBN4	57731	broad.mit.edu	37	chr19	41040082	41040082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggcggagctggagagCaccacccaggccaaggcacg	16	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:41040082C>T	uc002ony.2	+	20	4277	c.4191C>T	c.(4189-4191)AGC>AGT	p.S1397S	SPTBN4_uc002onx.2_Silent_p.S1397S|SPTBN4_uc002onz.2_Silent_p.S1397S|SPTBN4_uc010egx.2_Silent_p.S140S|SPTBN4_uc010egy.1_Silent_p.S73S|SPTBN4_uc002ooa.2_Silent_p.S73S|SPTBN4_uc010egz.1_Silent_p.S73S	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1397	Spectrin 11.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCTGGAGAGCACCACCCAGG	0.632													T	41040082	C	T	41040082	2	4	94	1	0	0	0	0	0	0	0	1	15120	709	25	2		2	SPTBN4	19	41040082	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	316884	41040082	18088901	3193	62326											
C19orf54	284325	broad.mit.edu	37	chr19	41249854	41249854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcccttcctctgacacGgctcatggttgaagtcctcg	11	13	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:41249854G>A	uc002oou.1	-	5	794	c.674C>T	c.(673-675)CCG>CTG	p.P225L	C19orf54_uc002oow.1_Missense_Mutation_p.P53L|C19orf54_uc002oox.1_RNA|C19orf54_uc002ooy.1_Missense_Mutation_p.R46C|C19orf54_uc010xvs.1_RNA	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	hypothetical protein LOC284325	225											0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCTCTGACACGGCTCATGGTT	0.612													A	41249854	G	A	41249854	3	1	94	1	0	0	0	0	1	0	0	0	1936	1116	39	1	389	1	C19orf54	19	41249854	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	209772	41249854	17879129	3194	62327											
AXL	558	broad.mit.edu	37	chr19	41762422	41762422	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagaagatctacaatggggActactaccgccagggacgta	11	10	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:41762422A>G	uc010ehj.2	+	18	2292	c.2102A>G	c.(2101-2103)GAC>GGC	p.D701G	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehk.2_Missense_Mutation_p.D692G	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	701	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						TACAATGGGGACTACTACCGC	0.537													G	41762422	A	G	41762422	3	3	94	1	0	0	0	0	1	0	0	0	1238	275	10	3	2172	3	AXL	19	41762422	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	512568	41762422	17366561	3195	62328											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41779901	41779901	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacaggggccgctctcctcAgcctcctgctgaagaggatg	12	13	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:41779901A>G	uc002oqb.3	+	4	876	c.587A>G	c.(586-588)CAG>CGG	p.Q196R	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.Q96R|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.Q96R|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.Q196R|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.Q153R|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.Q96R|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.Q96R|HNRNPUL1_uc010eho.2_Missense_Mutation_p.Q96R|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.Q96R|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.Q52R|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.Q96R	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	196	B30.2/SPRY.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						CGCTCTCCTCAGCCTCCTGCT	0.428													G	41779901	A	G	41779901	3	3	94	1	0	0	0	0	1	0	0	0	7274	188	7	3	601	3	HNRNPUL1	19	41779901	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	17479	41779901	17349082	3196	62329											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41811617	41811617	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccctacaaccagggaggtTacagccagggctacacagcc	10	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:41811617T>C	uc002oqb.3	+	14	2588	c.2299T>C	c.(2299-2301)TAC>CAC	p.Y767H	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.Y667H|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.Y677H|HNRNPUL1_uc010ehm.2_Intron|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.Y663H|HNRNPUL1_uc002oqe.3_Missense_Mutation_p.Y76H|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.Y667H|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.Y677H|HNRNPUL1_uc010eho.2_Missense_Mutation_p.Y667H|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.Y667H|HNRNPUL1_uc010ehp.2_Intron|HNRNPUL1_uc002oqf.3_Missense_Mutation_p.Y301H	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	767	Tyr-rich.|Pro-rich.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						CCAGGGAGGTTACAGCCAGGG	0.567													C	41811617	T	C	41811617	3	2	94	1	0	0	0	0	1	0	0	0	7274	1754	61	3	2353	3	HNRNPUL1	19	41811617	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	31716	41811617	17317366	3197	62330											
CCDC97	90324	broad.mit.edu	37	chr19	41822545	41822545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctggcccagctgtaccaCgagaagccactggtgttcct	10	14	0	1	rs139158128		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:41822545C>T	uc002oqg.2	+	2	425	c.303C>T	c.(301-303)CAC>CAT	p.H101H	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	101											0						AGCTGTACCACGAGAAGCCAC	0.632													T	41822545	C	T	41822545	2	4	94	1	0	0	0	0	0	0	0	1	2875	535	19	1		1	CCDC97	19	41822545	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	10928	41822545	17306438	3198	62331											
ZNF574	64763	broad.mit.edu	37	chr19	42584906	42584906	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccactcgtgcaccagttgcCtctccagcagcccttggaag	10	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:42584906C>A	uc002osm.3	+	2	2317	c.2148C>A	c.(2146-2148)GCC>GCA	p.A716A	ZNF574_uc002osk.3_Silent_p.A806A	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	716	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				CACCAGTTGCCTCTCCAGCAG	0.682													A	42584906	C	A	42584906	2	1	94	1	0	0	0	0	0	0	0	1	18003	668	24	5		5	ZNF574	19	42584906	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	762361	42584906	16544077	3199	62332											
GSK3A	2931	broad.mit.edu	37	chr19	42736814	42736814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagcgcgatggcctctggCggcgttcgagatttgaacac	14	11	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:42736814C>T	uc002otb.1	-	9	1238	c.1119G>A	c.(1117-1119)CCG>CCA	p.P373P	GSK3A_uc002ota.1_Silent_p.P291P|GSK3A_uc002otc.2_RNA	NM_019884	NP_063937	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	373	Protein kinase.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			ovary(2)|lung(2)	4		Prostate(69;0.00682)				TGGCCTCTGGCGGCGTTCGAG	0.587													T	42736814	C	T	42736814	2	4	94	1	0	0	0	0	0	0	0	1	6823	755	27	1		1	GSK3A	19	42736814	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	151908	42736814	16392169	3200	62333											
CIC	23152	broad.mit.edu	37	chr19	42791286	42791286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccccacaccctttggggGtggtggaatctggtaagggt	15	10	1	0	rs61741480		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:42791286G>A	uc002otf.1	+	3	386	c.346G>A	c.(346-348)GTG>ATG	p.V116M		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	116	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CCCTTTGGGGGTGGTGGAATC	0.682			T	DUX4	soft tissue sarcoma								A	42791286	G	A	42791286	3	1	94	1	0	0	0	0	1	0	0	0	3424	1261	44	4	356	4	CIC	19	42791286	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	54472	42791286	16337697	3201	62334											
MEGF8	1954	broad.mit.edu	37	chr19	42862379	42862379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgattccatgtggagctgGcggccccatcccccgagctc	11	17	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:42862379G>A	uc002otl.3	+	28	5529	c.4894G>A	c.(4894-4896)GCG>ACG	p.A1632T	MEGF8_uc002otm.3_Missense_Mutation_p.A1240T	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1699	Extracellular (Potential).|Kelch 10.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				TGTGGAGCTGGCGGCCCCATC	0.622													A	42862379	G	A	42862379	3	1	94	1	0	0	0	0	1	0	0	0	9463	1203	42	2	5004	2	MEGF8	19	42862379	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	71093	42862379	16266604	3202	62335											
CEACAM1	634	broad.mit.edu	37	chr19	43023297	43023297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagattccagtgtcatttGtggagcaggtcaggttcaca	13	7	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:43023297G>A	uc002otv.2	-	5	1162	c.1049C>T	c.(1048-1050)ACA>ATA	p.T350I	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_Intron|CEACAM1_uc002otw.2_Missense_Mutation_p.T350I|CEACAM1_uc010eij.2_Missense_Mutation_p.T350I|CEACAM1_uc002otx.2_Intron|CEACAM1_uc002oty.2_Intron|CEACAM1_uc002otz.2_Intron|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Missense_Mutation_p.T350I|CEACAM1_uc002oub.2_Intron	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	350	Ig-like C2-type 3.|Extracellular (Potential).				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	AGTGTCATTTGTGGAGCAGGT	0.512													A	43023297	G	A	43023297	3	1	94	1	0	0	0	0	1	0	0	0	3187	1377	48	4	648	4	CEACAM1	19	43023297	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	160918	43023297	16105686	3203	62336											
IRGQ	126298	broad.mit.edu	37	chr19	44096570	44096570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccctgggagtggtgccgCcgccgccgccagactagcca	14	17	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:44096570C>T	uc002oww.2	-	2	1598	c.1480G>A	c.(1480-1482)GCG>ACG	p.A494T	IRGQ_uc010eiv.2_Missense_Mutation_p.A494T	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	494	Ala-rich.						protein binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0199)				AGTGGTGCCGCCGCCGCCGCC	0.731													T	44096570	C	T	44096570	3	4	94	1	0	0	0	0	1	0	0	0	7839	739	26	2	395	2	IRGQ	19	44096570	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1073273	44096570	15032413	3204	62337											
IRGQ	126298	broad.mit.edu	37	chr19	44097020	44097020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgggattctccatcttgcCttctcccagacactccggat	7	15	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:44097020C>T	uc002oww.2	-	2	1148	c.1030G>A	c.(1030-1032)GGC>AGC	p.G344S	IRGQ_uc010eiv.2_Missense_Mutation_p.G344S	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	344							protein binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0199)				TCCATCTTGCCTTCTCCCAGA	0.592													T	44097020	C	T	44097020	3	4	94	1	0	0	0	0	1	0	0	0	7839	681	24	4	845	4	IRGQ	19	44097020	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	450	44097020	15031963	3205	62338											
CADM4	199731	broad.mit.edu	37	chr19	44131420	44131420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatctgagagccggatccGcacccggcgtggggagaact	16	12	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:44131420G>A	uc002oxc.1	-	3	311	c.262C>T	c.(262-264)CGG>TGG	p.R88W		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4 precursor	88	Ig-like V-type.|Extracellular (Potential).				cell adhesion	integral to membrane					0		Prostate(69;0.0199)				AGCCGGATCCGCACCCGGCGT	0.597													A	44131420	G	A	44131420	3	1	94	1	0	0	0	0	1	0	0	0	2569	1086	38	1	932	1	CADM4	19	44131420	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	34400	44131420	14997563	3206	62339											
ZNF230	7773	broad.mit.edu	37	chr19	44515452	44515452	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgccggaaaaaacccttcAaatgtgaggattgtggaaag	11	7	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:44515452A>G	uc002oyb.1	+	5	1512	c.1261A>G	c.(1261-1263)AAA>GAA	p.K421E		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	421	C2H2-type 10; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				AAAACCCTTCAAATGTGAGGA	0.433													G	44515452	A	G	44515452	3	3	94	1	0	0	0	0	1	0	0	0	17781	131	5	3	1275	3	ZNF230	19	44515452	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	384032	44515452	14613531	3207	62340											
ZNF225	7768	broad.mit.edu	37	chr19	44636503	44636503	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtgggaagagctttagccGggcctcaagtattttgaatc	12	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:44636503G>T	uc002oyj.1	+	5	1979	c.1736G>T	c.(1735-1737)CGG>CTG	p.R579L	ZNF225_uc010eje.1_Missense_Mutation_p.R496L|ZNF225_uc010ejf.1_Missense_Mutation_p.R579L	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	579	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				AGCTTTAGCCGGGCCTCAAGT	0.428													T	44636503	G	T	44636503	3	4	94	1	0	0	0	0	1	0	0	0	17776	1116	39	5	1750	5	ZNF225	19	44636503	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	121051	44636503	14492480	3208	62341											
ZNF234	10780	broad.mit.edu	37	chr19	44654608	44654608	+	Frame_Shift_Del	DEL	A	A	-													tgtattccttttagaaaaggAaaaaaagcttgatataatga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:44654608delA	uc002oym.2	+	5	492	c.185delA	c.(184-186)GAAfs	p.E62fs	ZNF234_uc002oyl.3_Frame_Shift_Del_p.E62fs	NM_006630	NP_006621	Q14588	ZN234_HUMAN	zinc finger protein 234	62	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				TTAGAAAAGGAAAAAAAGCTT	0.368													-	44654608	A	-	44654608	7	5	94	1	0	1	0	1	0	0	0	0	17784	246	9	0	195	0	ZNF234	19	44654608	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	18105	44654608	14474375	3209	62342											
ZNF227	7770	broad.mit.edu	37	chr19	44740078	44740078	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaatgtaaggagtgtggtAagggcttcagtcaggcttca	13	5	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:44740078A>G	uc002oyu.2	+	6	1700	c.1495A>G	c.(1495-1497)AAG>GAG	p.K499E	ZNF227_uc010xwu.1_Missense_Mutation_p.K448E|ZNF227_uc002oyv.2_Missense_Mutation_p.K499E|ZNF227_uc010xwv.1_Missense_Mutation_p.K448E|ZNF227_uc010xww.1_Missense_Mutation_p.K420E|ZNF227_uc002oyw.2_Missense_Mutation_p.K471E|ZNF227_uc010ejh.2_Missense_Mutation_p.K492E|ZNF235_uc002oyx.1_Intron	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	499	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				GGAGTGTGGTAAGGGCTTCAG	0.468													G	44740078	A	G	44740078	3	3	94	1	0	0	0	0	1	0	0	0	17778	363	13	3	1509	3	ZNF227	19	44740078	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	85470	44740078	14388905	3210	62343											
ZNF235	9310	broad.mit.edu	37	chr19	44791768	44791768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgtgaggcctgactgaatCgcttctgacatgcatcacac	11	11	2	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:44791768C>T	uc002oza.3	-	5	1923	c.1820G>A	c.(1819-1821)CGA>CAA	p.R607Q	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.R603Q|ZNF235_uc010xwx.1_Missense_Mutation_p.R521Q	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	607	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)				CTGACTGAATCGCTTCTGACA	0.493													T	44791768	C	T	44791768	3	4	94	1	0	0	0	0	1	0	0	0	17785	884	31	1	400	1	ZNF235	19	44791768	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	51690	44791768	14337215	3211	62344											
ZNF235	9310	broad.mit.edu	37	chr19	44792901	44792901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaactttatctcttttgtgCactatattatcatcatggtg	6	7	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:44792901C>T	uc002oza.3	-	5	790	c.687G>A	c.(685-687)GTG>GTA	p.V229V	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Silent_p.V225V|ZNF235_uc010xwx.1_Silent_p.V143V	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)				CTCTTTTGTGCACTATATTAT	0.358													T	44792901	C	T	44792901	2	4	94	1	0	0	0	0	0	0	0	1	17785	697	25	2		2	ZNF235	19	44792901	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1133	44792901	14336082	3212	62345											
ZNF235	9310	broad.mit.edu	37	chr19	44803829	44803829	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctctgggcagagtccagCagccccagctcctcctcagt	9	17	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:44803829C>T	uc002oza.3	-	3	175	c.72G>A	c.(70-72)CTG>CTA	p.L24L	ZNF235_uc002oyx.1_RNA|ZNF235_uc010eji.2_Silent_p.L24L|ZNF235_uc002ozb.3_Silent_p.L24L|ZNF235_uc010xwx.1_5'UTR	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)				CAGAGTCCAGCAGCCCCAGCT	0.522													T	44803829	C	T	44803829	2	4	94	1	0	0	0	0	0	0	0	1	17785	697	25	2		2	ZNF235	19	44803829	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	10928	44803829	14325154	3213	62346											
ZNF229	7772	broad.mit.edu	37	chr19	44933315	44933315	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagctcttcccgcactcGcatttgtagggtttctctcc	7	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:44933315G>A	uc002oze.1	-	6	2075	c.1641C>T	c.(1639-1641)TGC>TGT	p.C547C	ZNF229_uc010ejk.1_Silent_p.C201C|ZNF229_uc010ejl.1_Silent_p.C541C	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	547	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)				TCCCGCACTCGCATTTGTAGG	0.512													A	44933315	G	A	44933315	2	1	94	1	0	0	0	0	0	0	0	1	17779	1079	38	1		1	ZNF229	19	44933315	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	129486	44933315	14195668	3214	62347											
ZNF180	7733	broad.mit.edu	37	chr19	44982338	44982338	+	Frame_Shift_Del	DEL	T	T	-													ctctgctttgaagttgaatcTttttttccaactgcagttgc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:44982338delT	uc002ozf.3	-	5	642	c.360delA	c.(358-360)AAAfs	p.K120fs	ZNF180_uc002ozh.3_5'UTR|ZNF180_uc002ozi.3_Frame_Shift_Del_p.K93fs|ZNF180_uc002ozg.3_Frame_Shift_Del_p.K119fs|ZNF180_uc010ejm.2_Frame_Shift_Del_p.K95fs	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	120	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				AAGTTGAATCTTTTTTTCCAA	0.338													-	44982338	T	-	44982338	7	5	94	1	0	1	0	1	0	0	0	0	17745	1606	56	0	1722	0	ZNF180	19	44982338	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	49023	44982338	14146645	3215	62348											
CEACAM20	125931	broad.mit.edu	37	chr19	45026685	45026685	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtactcggaccttcagagtAcccaggctggacaggtgggt	14	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:45026685A>G	uc010ejn.1	-	4	745	c.729T>C	c.(727-729)GGT>GGC	p.G243G	CEACAM20_uc010ejo.1_Silent_p.G243G|CEACAM20_uc010ejp.1_Silent_p.G243G|CEACAM20_uc010ejq.1_Silent_p.G243G	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion	243	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane				large_intestine(2)	2		Prostate(69;0.0352)				CCTTCAGAGTACCCAGGCTGG	0.522													G	45026685	A	G	45026685	2	3	94	1	0	0	0	0	0	0	0	1	3191	378	14	3		3	CEACAM20	19	45026685	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	44347	45026685	14102298	3216	62349											
CBLC	23624	broad.mit.edu	37	chr19	45281378	45281378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggcccattctcggcggGcggccggcggaggcggcccc	19	15	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:45281378G>A	uc002ozs.2	+	1	253	c.190G>A	c.(190-192)GCG>ACG	p.A64T	CBLC_uc010ejt.2_Missense_Mutation_p.A64T	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Cas-Br-M (murine) ecotropic retroviral	64	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|skin(1)	6	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				TTCTcggcgggcggccggcgg	0.517			M		AML								A	45281378	G	A	45281378	3	1	94	1	0	0	0	0	1	0	0	0	2702	1203	42	2	192	2	CBLC	19	45281378	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	254693	45281378	13847605	3217	62350											
BCAM	4059	broad.mit.edu	37	chr19	45316592	45316592	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctggaggtgcccgtagAgatgaacccaggtgagcagc	16	11	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:45316592A>G	uc002ozu.2	+	5	634	c.590A>G	c.(589-591)GAG>GGG	p.E197G	BCAM_uc002ozt.1_Missense_Mutation_p.E197G	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	197	Extracellular (Potential).|Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GTGCCCGTAGAGATGAACCCA	0.692													G	45316592	A	G	45316592	3	3	94	1	0	0	0	0	1	0	0	0	1344	304	11	3	608	3	BCAM	19	45316592	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	35214	45316592	13812391	3218	62351											
BCAM	4059	broad.mit.edu	37	chr19	45318008	45318008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccaagacgctggagctgCgcgtggcctgtgagagccct	14	13	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:45318008C>T	uc002ozu.2	+	8	1113	c.1069C>T	c.(1069-1071)CGC>TGC	p.R357C	BCAM_uc002ozt.1_Missense_Mutation_p.R357C	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	357	Extracellular (Potential).				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GCTGGAGCTGCGCGTGGCCTG	0.667													T	45318008	C	T	45318008	3	4	94	1	0	0	0	0	1	0	0	0	1344	768	27	1	1099	1	BCAM	19	45318008	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1416	45318008	13810975	3219	62352											
GEMIN7	79760	broad.mit.edu	37	chr19	45593471	45593471	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgatggacgcagagccccCttgaggccagaggttcctga	13	13	0	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:45593471C>A	uc002pap.1	+	3	250	c.99C>A	c.(97-99)CCC>CCA	p.P33P	uc002pas.2_5'Flank|GEMIN7_uc002paq.1_Silent_p.P33P|GEMIN7_uc002par.1_Silent_p.P33P	NM_001007270	NP_001007271	Q9H840	GEMI7_HUMAN	gemin 7	33					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		GCAGAGCCCCCTTGAGGCCAG	0.627													A	45593471	C	A	45593471	2	1	94	1	0	0	0	0	0	0	0	1	6333	668	24	5		5	GEMIN7	19	45593471	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	275463	45593471	13535512	3220	62353											
GEMIN7	79760	broad.mit.edu	37	chr19	45593631	45593631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacgttgcacgagggtgtgCgtgtggccgcccactttgga	15	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:45593631C>T	uc002pap.1	+	3	410	c.259C>T	c.(259-261)CGT>TGT	p.R87C	uc002pas.2_5'Flank|GEMIN7_uc002paq.1_Missense_Mutation_p.R87C|GEMIN7_uc002par.1_Missense_Mutation_p.R87C	NM_001007270	NP_001007271	Q9H840	GEMI7_HUMAN	gemin 7	87					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		CGAGGGTGTGCGTGTGGCCGC	0.647													T	45593631	C	T	45593631	3	4	94	1	0	0	0	0	1	0	0	0	6333	768	27	1	261	1	GEMIN7	19	45593631	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	160	45593631	13535352	3221	62354											
TRAPPC6A	79090	broad.mit.edu	37	chr19	45667454	45667454	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctccagatactgcaggccagAggccatcgggaggaggaggg	17	10	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:45667454A>T	uc002paw.2	-	4	341	c.322T>A	c.(322-324)TCT>ACT	p.S108T	TRAPPC6A_uc002pav.2_Missense_Mutation_p.S122T			O75865	TPC6A_HUMAN	SubName: Full=TRAPPC6Adelta29-42; SubName: Full=Trafficking protein particle complex 6A, isoform CRA_a;	108				SFPLLLPMASGLQYLEEAPKFLAFT -> KLSPPPPDGLWP AVSGGSTQVPGLH (in Ref. 1; AAF28967).	vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding				0		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		TGCAGGCCAGAGGCCATCGGG	0.627													T	45667454	A	T	45667454	3	4	94	1	0	0	0	0	1	0	0	0	16460	304	11	5	169	5	TRAPPC6A	19	45667454	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	73823	45667454	13461529	3222	62355											
ERCC2	2068	broad.mit.edu	37	chr19	45855886	45855886	+	Frame_Shift_Del	DEL	C	C	-													ctcacgaatctggaactggtCccgcaggtattccagccgcg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:45855886delC	uc002pbj.2	-	21	1971	c.1924delG	c.(1924-1926)GACfs	p.D642fs	ERCC2_uc002pbh.2_Frame_Shift_Del_p.D205fs|ERCC2_uc002pbi.2_Frame_Shift_Del_p.D335fs|ERCC2_uc010ejz.2_Frame_Shift_Del_p.D564fs|ERCC2_uc002pbk.2_Frame_Shift_Del_p.D618fs	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	642					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TGGAACTGGTCCCGCAGGTAT	0.612			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				-	45855886	C	-	45855886	7	5	94	1	0	1	0	1	0	0	0	0	5213	855	30	0	370	0	ERCC2	19	45855886	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	188432	45855886	13273097	3223	62356											
PPP1R13L	10848	broad.mit.edu	37	chr19	45885943	45885943	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtagtcccagagagcgtAcactgccccgctgttcatca	10	14	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:45885943A>G	uc002pbn.2	-	12	2367	c.2290T>C	c.(2290-2292)TAC>CAC	p.Y764H	PPP1R13L_uc002pbm.2_Missense_Mutation_p.Y343H|PPP1R13L_uc002pbo.2_Missense_Mutation_p.Y764H	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	764	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CAGAGAGCGTACACTGCCCCG	0.667													G	45885943	A	G	45885943	3	3	94	1	0	0	0	0	1	0	0	0	12358	391	14	3	204	3	PPP1R13L	19	45885943	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	30057	45885943	13243040	3224	62357											
PPP1R13L	10848	broad.mit.edu	37	chr19	45899436	45899436	+	Frame_Shift_Del	DEL	C	C	-													gcctcctcaccttgccggtgCcccccagtccatccaggctg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:45899436delC	uc002pbn.2	-	6	970	c.893delG	c.(892-894)GGCfs	p.G298fs	PPP1R13L_uc002pbo.2_Frame_Shift_Del_p.G298fs|PPP1R13L_uc002pbp.2_Frame_Shift_Del_p.G298fs	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	298	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CTTGCCGGTGCCCCCCAGTCC	0.701													-	45899436	C	-	45899436	7	5	94	1	0	1	0	1	0	0	0	0	12358	739	26	0	1625	0	PPP1R13L	19	45899436	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	13493	45899436	13229547	3225	62358											
PPP1R13L	10848	broad.mit.edu	37	chr19	45899882	45899882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcggacgctggcgcgtcGtaggctgtggcaggggggcg	22	9	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:45899882G>A	uc002pbn.2	-	4	710	c.633C>T	c.(631-633)TAC>TAT	p.Y211Y	PPP1R13L_uc002pbo.2_Silent_p.Y211Y|PPP1R13L_uc002pbp.2_Silent_p.Y211Y	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	211	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CTGGCGCGTCGTAGGCTGTGG	0.781													A	45899882	G	A	45899882	2	1	94	1	0	0	0	0	0	0	0	1	12358	1140	40	1		1	PPP1R13L	19	45899882	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	446	45899882	13229101	3226	62359											
EML2	24139	broad.mit.edu	37	chr19	46116926	46116926	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgtccgccccctcagaccagAtccctgtgggcaagatgaag	11	15	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:46116926A>T	uc002pcn.2	-	18	1732	c.1697T>A	c.(1696-1698)ATC>AAC	p.I566N	EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Missense_Mutation_p.I450N|EML2_uc010xxl.1_Missense_Mutation_p.I713N|EML2_uc010xxm.1_Missense_Mutation_p.I767N	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like	566					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CTCAGACCAGATCCCTGTGGG	0.557													T	46116926	A	T	46116926	3	4	94	1	0	0	0	0	1	0	0	0	5097	333	12	5	260	5	EML2	19	46116926	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	217044	46116926	13012057	3227	62360											
GIPR	2696	broad.mit.edu	37	chr19	46173991	46173991	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagccgcggaaccgccttcAggtgtgaccaggagggctgg	17	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:46173991A>C	uc002pcu.1	+	3	270	c.171A>C	c.(169-171)TCA>TCC	p.S57S	GIPR_uc002pct.1_Silent_p.S57S|GIPR_uc010xxp.1_Silent_p.S57S|GIPR_uc010xxq.1_RNA	NM_000164	NP_000155	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	57	Extracellular (Potential).				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		AACCGCCTTCAGGTGTGACCA	0.687													C	46173991	A	C	46173991	2	2	94	1	0	0	0	0	0	0	0	1	6395	202	7	5		5	GIPR	19	46173991	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	57065	46173991	12954992	3228	62361											
SNRPD2	6633	broad.mit.edu	37	chr19	46190938	46190938	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcccttgccactcttgggtAcctcagtccacatctccttc	6	17	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:46190938A>G	uc002pcw.2	-	3	527	c.230T>C	c.(229-231)GTA>GCA	p.V77A	SNRPD2_uc002pcv.2_Missense_Mutation_p.V67A	NM_004597	NP_004588	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 isoform 1	77					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding				0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		ACTCTTGGGTACCTCAGTCCA	0.587													G	46190938	A	G	46190938	3	3	94	1	0	0	0	0	1	0	0	0	14865	391	14	3	130	3	SNRPD2	19	46190938	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	16947	46190938	12938045	3229	62362											
QPCTL	54814	broad.mit.edu	37	chr19	46198751	46198751	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcacgtggagctggatccCttcacagcctcaacacccct	9	16	2	0	rs145816901		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:46198751C>A	uc010xxr.1	+	3	629	c.408C>A	c.(406-408)CCC>CCA	p.P136P	QPCTL_uc010ekn.2_Intron	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like isoform	136				Missing (in Ref. 4; AAH11553).	peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		AGCTGGATCCCTTCACAGCCT	0.642													A	46198751	C	A	46198751	2	1	94	1	0	0	0	0	0	0	0	1	12875	668	24	5		5	QPCTL	19	46198751	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	7813	46198751	12930232	3230	62363											
FBXO46	23403	broad.mit.edu	37	chr19	46215024	46215024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttatcgtggaggcccaggCggcagccgggagtctcgcgg	18	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:46215024C>T	uc002pcy.2	-	2	1855	c.1730G>A	c.(1729-1731)CGC>CAC	p.R577H	FBXO46_uc002pcz.2_Missense_Mutation_p.R577H	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	577							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GAGGCCCAGGCGGCAGCCGGG	0.577													T	46215024	C	T	46215024	3	4	94	1	0	0	0	0	1	0	0	0	5755	768	27	1	85	1	FBXO46	19	46215024	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	16273	46215024	12913959	3231	62364											
FBXO46	23403	broad.mit.edu	37	chr19	46215953	46215953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcacggggctcccggccGttggagatgcggaaggcgat	19	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:46215953G>A	uc002pcy.2	-	2	926	c.801C>T	c.(799-801)AAC>AAT	p.N267N	FBXO46_uc002pcz.2_Silent_p.N267N	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	267							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GCTCCCGGCCGTTGGAGATGC	0.731													A	46215953	G	A	46215953	2	1	94	1	0	0	0	0	0	0	0	1	5755	1136	40	1		1	FBXO46	19	46215953	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	929	46215953	12913030	3232	62365											
RSPH6A	81492	broad.mit.edu	37	chr19	46307719	46307719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcgggctatctgggcccGcaggtagttggcctcgttgc	16	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:46307719G>A	uc002pdm.2	-	3	1587	c.1444C>T	c.(1444-1446)CGG>TGG	p.R482W	RSPH6A_uc002pdl.2_Missense_Mutation_p.R218W	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	482						intracellular				ovary(1)|central_nervous_system(1)	2						ATCTGGGCCCGCAGGTAGTTG	0.627													A	46307719	G	A	46307719	3	1	94	1	0	0	0	0	1	0	0	0	13707	1086	38	1	725	1	RSPH6A	19	46307719	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	91766	46307719	12821264	3233	62366											
SYMPK	8189	broad.mit.edu	37	chr19	46328490	46328490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatggcttcagtgtacacgGccgccagttcgtggatcagc	13	12	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:46328490G>A	uc002pdn.2	-	18	2674	c.2429C>T	c.(2428-2430)GCC>GTC	p.A810V	SYMPK_uc002pdo.1_Missense_Mutation_p.A810V|SYMPK_uc002pdp.1_Missense_Mutation_p.A810V	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	810					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AGTGTACACGGCCGCCAGTTC	0.642													A	46328490	G	A	46328490	3	1	94	1	0	0	0	0	1	0	0	0	15436	1203	42	2	1435	2	SYMPK	19	46328490	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	20771	46328490	12800493	3234	62367											
STRN4	29888	broad.mit.edu	37	chr19	47224014	47224014	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccaggctccagagacgcaGggagcagtcatggcctgcac	14	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:47224014G>T	uc002pfl.2	-	17	2140	c.2107C>A	c.(2107-2109)CTG>ATG	p.L703M	STRN4_uc002pfm.2_Missense_Mutation_p.L710M|STRN4_uc010xyf.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	703	WD 6.					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CAGAGACGCAGGGAGCAGTCA	0.637													T	47224014	G	T	47224014	3	4	94	1	0	0	0	0	1	0	0	0	15330	991	35	5	158	5	STRN4	19	47224014	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	895524	47224014	11904969	3235	62368											
GPR77	27202	broad.mit.edu	37	chr19	47844795	47844795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggttttttgtctgctggGcaccctaccacctgctgggg	14	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:47844795G>A	uc010ela.1	+	2	957	c.739G>A	c.(739-741)GCA>ACA	p.A247T	GPR77_uc002pgk.1_Missense_Mutation_p.A247T	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	G protein-coupled receptor 77	247	Helical; Name=6; (Potential).				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			ovary(1)	1		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		TGTCTGCTGGGCACCCTACCA	0.701													A	47844795	G	A	47844795	3	1	94	1	0	0	0	0	1	0	0	0	6709	1203	42	2	741	2	GPR77	19	47844795	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	620781	47844795	11284188	3236	62369											
DHX34	9704	broad.mit.edu	37	chr19	47879807	47879807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaggccagcaactgcgaCggaagccgaggtacagtgag	16	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:47879807C>T	uc010xyn.1	+	12	2930	c.2589C>T	c.(2587-2589)GAC>GAT	p.D863D	DHX34_uc010xyo.1_5'Flank	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	863						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCAACTGCGACGGAAGCCGAG	0.692													T	47879807	C	T	47879807	2	4	94	1	0	0	0	0	0	0	0	1	4507	535	19	1		1	DHX34	19	47879807	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	35012	47879807	11249176	3237	62370											
GLTSCR1	29998	broad.mit.edu	37	chr19	48197675	48197675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgccgcagccgcctctcCgcccccagtcccagccgcct	9	25	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:48197675C>T	uc002phh.3	+	8	2781	c.2587C>T	c.(2587-2589)CGC>TGC	p.R863C	GLTSCR1_uc002phi.3_Missense_Mutation_p.R621C	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	863							protein binding			pancreas(3)	3		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCCGCCTCTCCGCCCCCAGTC	0.697													T	48197675	C	T	48197675	3	4	94	1	0	0	0	0	1	0	0	0	6474	652	23	1	2609	1	GLTSCR1	19	48197675	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	317868	48197675	10931308	3238	62371											
GLTSCR1	29998	broad.mit.edu	37	chr19	48197801	48197801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccagcccctacgccatccGacttccagctccagttccca	6	20	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:48197801G>A	uc002phh.3	+	8	2907	c.2713G>A	c.(2713-2715)GAC>AAC	p.D905N	GLTSCR1_uc002phi.3_Missense_Mutation_p.D663N	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	905							protein binding			pancreas(3)	3		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		TACGCCATCCGACTTCCAGCT	0.701													A	48197801	G	A	48197801	3	1	94	1	0	0	0	0	1	0	0	0	6474	1058	37	1	2735	1	GLTSCR1	19	48197801	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	126	48197801	10931182	3239	62372											
SEPW1	6415	broad.mit.edu	37	chr19	48283985	48283985	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggactctcctaccagtggCgcttgaggctacaagtccaa	10	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:48283985C>T	uc010xyw.1	+	2	234	c.33C>T	c.(31-33)GGC>GGT	p.G11G	SEPW1_uc002pho.1_5'Flank	NM_003009	NP_003000	P63302	SELW_HUMAN	selenoprotein W, 1	11					cell redox homeostasis	cytoplasm	selenium binding				0		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		all cancers(93;0.000291)|OV - Ovarian serous cystadenocarcinoma(262;0.000305)|Epithelial(262;0.0146)|GBM - Glioblastoma multiforme(486;0.0273)		CTACCAGTGGCGCTTGAGGCT	0.627													T	48283985	C	T	48283985	2	4	94	1	0	0	0	0	0	0	0	1	14072	755	27	1		1	SEPW1	19	48283985	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	86184	48283985	10844998	3240	62373											
CRX	1406	broad.mit.edu	37	chr19	48342922	48342922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacctacgccccggcctccGctttctgctcttccccctcc	6	22	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:48342922G>A	uc002phq.3	+	4	802	c.598G>A	c.(598-600)GCT>ACT	p.A200T		NM_000554	NP_000545	O43186	CRX_HUMAN	cone-rod homeobox protein	200					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCCGGCCTCCGCTTTCTGCTC	0.677													A	48342922	G	A	48342922	3	1	94	1	0	0	0	0	1	0	0	0	3902	1087	38	1	608	1	CRX	19	48342922	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	58937	48342922	10786061	3241	62374											
KCNJ14	3770	broad.mit.edu	37	chr19	48967755	48967755	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtggctcccagtatgaggtCgactatcgccacttccatcg	10	14	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:48967755C>T	uc002pje.1	+	3	1437	c.1032C>T	c.(1030-1032)GTC>GTT	p.V344V	KCNJ14_uc002pjf.1_Silent_p.V344V	NM_013348	NP_037480	Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel J14	344	Cytoplasmic (By similarity).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			skin(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		AGTATGAGGTCGACTATCGCC	0.587													T	48967755	C	T	48967755	2	4	94	1	0	0	0	0	0	0	0	1	8048	871	31	1		1	KCNJ14	19	48967755	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	624833	48967755	10161228	3242	62375											
CYTH2	9266	broad.mit.edu	37	chr19	48981786	48981786	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtggtggagggaaaccAcatggtgtaccggatctcgg	16	9	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:48981786A>G	uc002pjj.3	+	12	1352	c.1052A>G	c.(1051-1053)CAC>CGC	p.H351R	CYTH2_uc002pji.2_RNA	NM_017457	NP_059431	Q99418	CYH2_HUMAN	cytohesin 2 isoform 1	351	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						GAGGGAAACCACATGGTGTAC	0.473													G	48981786	A	G	48981786	3	3	94	1	0	0	0	0	1	0	0	0	4204	159	6	3	1094	3	CYTH2	19	48981786	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	14031	48981786	10147197	3243	62376											
SPACA4	171169	broad.mit.edu	37	chr19	49110328	49110328	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtgagctcaccgactcCatgcagtgtcctggtaccta	9	13	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:49110328C>A	uc002pjo.2	+	1	329	c.93C>A	c.(91-93)TCC>TCA	p.S31S	FAM83E_uc002pjn.2_Intron	NM_133498	NP_598005	Q8TDM5	SACA4_HUMAN	sperm acrosomal membrane protein 14 precursor	31	UPAR/Ly6 1.				cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane				central_nervous_system(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		TCACCGACTCCATGCAGTGTC	0.632													A	49110328	C	A	49110328	2	1	94	1	0	0	0	0	0	0	0	1	14974	581	21	5		5	SPACA4	19	49110328	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	128542	49110328	10018655	3244	62377											
HSD17B14	51171	broad.mit.edu	37	chr19	49339655	49339655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccttcccggcatagcgcGttcccgtagccatcccgtgt	9	18	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:49339655G>A	uc002pkv.1	-	1	280	c.14C>T	c.(13-15)ACG>ATG	p.T5M	HSD17B14_uc010emk.1_Missense_Mutation_p.T5M	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN	dehydrogenase/reductase (SDR family) member 10	5					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity				0		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		GGCATAGCGCGTTCCCGTAGC	0.647											OREG0025610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	49339655	G	A	49339655	3	1	94	1	0	0	0	0	1	0	0	0	7383	1145	40	1	834	1	HSD17B14	19	49339655	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	229327	49339655	9789328	3245	62378											
TULP2	7288	broad.mit.edu	37	chr19	49400623	49400623	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttccagcttctgcagCctcatagcagcgagctcatg	10	13	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:49400623C>T	uc002pkz.2	-	3	214	c.63G>A	c.(61-63)AGG>AGA	p.R21R	NUCB1_uc002pla.2_5'Flank|NUCB1_uc002plb.3_5'Flank	NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	21					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GCTTCTGCAGCCTCATAGCAG	0.597													T	49400623	C	T	49400623	2	4	94	1	0	0	0	0	0	0	0	1	16771	738	26	2		2	TULP2	19	49400623	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	60968	49400623	9728360	3246	62379											
LIN7B	64130	broad.mit.edu	37	chr19	49619556	49619556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacagccagcgagggccacGcacatcccagggtagtggag	14	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:49619556G>A	uc002pmp.2	+	4	309	c.265G>A	c.(265-267)GCA>ACA	p.A89T		NM_022165	NP_071448	Q9HAP6	LIN7B_HUMAN	lin-7 homolog B	89					exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein domain specific binding				0		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01)		CGAGGGCCACGCACATCCCAG	0.597													A	49619556	G	A	49619556	3	1	94	1	0	0	0	0	1	0	0	0	8811	1087	38	1	279	1	LIN7B	19	49619556	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	218933	49619556	9509427	3247	62380											
PPFIA3	8541	broad.mit.edu	37	chr19	49636603	49636603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagatagaggcgcagctggCgcagcgcgtggcggcgctca	18	12	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:49636603C>T	uc002pmr.2	+	9	1468	c.1136C>T	c.(1135-1137)GCG>GTG	p.A379V	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Missense_Mutation_p.A303V|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.A247V	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	379	Potential.					cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GCGCAGCTGGCGCAGCGCGTG	0.682													T	49636603	C	T	49636603	3	4	94	1	0	0	0	0	1	0	0	0	12311	768	27	1	1166	1	PPFIA3	19	49636603	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	17047	49636603	9492380	3248	62381											
PPFIA3	8541	broad.mit.edu	37	chr19	49646100	49646100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtatgtggccgcctgcCgggccaatgtcaagagcggt	15	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:49646100C>T	uc002pmr.2	+	21	2916	c.2584C>T	c.(2584-2586)CGG>TGG	p.R862W	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.R730W|PPFIA3_uc002pmt.2_Missense_Mutation_p.R10W	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	862	SAM 1.					cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGCCGCCTGCCGGGCCAATGT	0.468													T	49646100	C	T	49646100	3	4	94	1	0	0	0	0	1	0	0	0	12311	643	23	1	2662	1	PPFIA3	19	49646100	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	9497	49646100	9482883	3249	62382											
TRPM4	54795	broad.mit.edu	37	chr19	49713993	49713993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctttctaaggaagccgagCggaagctgctaacgtgggaa	13	9	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:49713993C>T	uc002pmw.2	+	22	3427	c.3355C>T	c.(3355-3357)CGG>TGG	p.R1119W	TRPM4_uc010emu.2_Missense_Mutation_p.R974W|TRPM4_uc010yak.1_Missense_Mutation_p.R583W|TRPM4_uc002pmx.2_Missense_Mutation_p.R945W|TRPM4_uc010emv.2_Missense_Mutation_p.R1004W|TRPM4_uc010yal.1_Missense_Mutation_p.R765W|TRPM4_uc002pmy.2_Missense_Mutation_p.R461W	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	1119	Cytoplasmic (Potential).|Calmodulin-binding.				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGAAGCCGAGCGGAAGCTGCT	0.627													T	49713993	C	T	49713993	3	4	94	1	0	0	0	0	1	0	0	0	16585	759	27	1	3441	1	TRPM4	19	49713993	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	67893	49713993	9414990	3250	62383											
SLC6A16	28968	broad.mit.edu	37	chr19	49812999	49812999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagactgtagactggtgacCcgccatcctcgattctgtct	9	14	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:49812999C>T	uc002pmz.2	-	5	1019	c.785G>A	c.(784-786)GGG>GAG	p.G262E	SLC6A16_uc002pna.2_Missense_Mutation_p.G262E|hsa-mir-4324|MI0015854_5'Flank	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	262	Extracellular (Potential).					integral to membrane|intracellular	neurotransmitter:sodium symporter activity			skin(2)|ovary(1)|kidney(1)	4		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GACTGGTGACCCGCCATCCTC	0.542													T	49812999	C	T	49812999	3	4	94	1	0	0	0	0	1	0	0	0	14679	623	22	4	1457	4	SLC6A16	19	49812999	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	99006	49812999	9315984	3251	62384											
RCN3	57333	broad.mit.edu	37	chr19	50040398	50040398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggggactcgatggccactcGagaggagctgacagccttcc	14	12	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50040398G>A	uc002poj.2	+	4	1001	c.554G>A	c.(553-555)CGA>CAA	p.R185Q		NM_020650	NP_065701	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	185	EF-hand 3.|3; possibly ancestral (Potential).					endoplasmic reticulum lumen	calcium ion binding|protein binding			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		ATGGCCACTCGAGAGGAGCTG	0.622													A	50040398	G	A	50040398	3	1	94	1	0	0	0	0	1	0	0	0	13181	1058	37	1	564	1	RCN3	19	50040398	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	227399	50040398	9088585	3252	62385											
PRR12	57479	broad.mit.edu	37	chr19	50119005	50119005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctctgttcccttctagaCgctctgggcaggccaagaac	9	14	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50119005C>T	uc002poo.3	+	9	5026	c.5026C>T	c.(5026-5028)CGC>TGC	p.R1676C		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	855	Pro-rich.						DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCTTCTAGACGCTCTGGGCA	0.582													T	50119005	C	T	50119005	3	4	94	1	0	0	0	0	1	0	0	0	12584	550	19	1	5060	1	PRR12	19	50119005	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	78607	50119005	9009978	3253	62386											
RRAS	6237	broad.mit.edu	37	chr19	50143242	50143242	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcgctcttgcccacgccGccgccgcccacgaccaccag	10	22	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50143242G>A	uc002pop.1	-	1	159	c.114C>T	c.(112-114)GGC>GGT	p.G38G	SCAF1_uc002poq.2_5'Flank	NM_006270	NP_006261	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	38	GTP.				axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		TGCCCACGCCGCCGCCGCCCA	0.572													A	50143242	G	A	50143242	2	1	94	1	0	0	0	0	0	0	0	1	13676	1074	38	1		1	RRAS	19	50143242	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	24237	50143242	8985741	3254	62387											
IRF3	3661	broad.mit.edu	37	chr19	50165361	50165361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagccactgcccggcccGccagagagccagtcccccac	10	21	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50165361G>A	uc010end.1	-	6	1208	c.826C>T	c.(826-828)CGG>TGG	p.R276W	IRF3_uc002pos.1_5'Flank|IRF3_uc002pot.1_Intron|IRF3_uc002pox.1_Missense_Mutation_p.R276W|IRF3_uc002poy.1_Missense_Mutation_p.R276W|IRF3_uc002pou.2_Missense_Mutation_p.R276W|IRF3_uc002pov.2_Missense_Mutation_p.R130W|IRF3_uc002pow.2_Missense_Mutation_p.R276W|IRF3_uc002poz.1_Missense_Mutation_p.R276W	NM_001571	NP_001562	Q14653	IRF3_HUMAN	interferon regulatory factor 3	276	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGCCCGGCCCGCCAGAGAGCC	0.667													A	50165361	G	A	50165361	3	1	94	1	0	0	0	0	1	0	0	0	7831	1086	38	1	469	1	IRF3	19	50165361	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	22119	50165361	8963622	3255	62388											
IRF3	3661	broad.mit.edu	37	chr19	50166694	50166694	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttgcggttgagggcagaGcggaaattcctcttccaggt	13	9	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50166694G>A	uc010end.1	-	3	625	c.243C>T	c.(241-243)CGC>CGT	p.R81R	IRF3_uc002pos.1_5'Flank|IRF3_uc002pot.1_Silent_p.R81R|IRF3_uc002pox.1_Silent_p.R81R|IRF3_uc002poy.1_Silent_p.R81R|IRF3_uc002pou.2_Silent_p.R81R|IRF3_uc002pov.2_5'UTR|IRF3_uc002pow.2_Silent_p.R81R|IRF3_uc002poz.1_Silent_p.R81R|IRF3_uc010ene.1_Intron|BCL2L12_uc002ppa.2_5'Flank|BCL2L12_uc002ppb.2_5'Flank	NM_001571	NP_001562	Q14653	IRF3_HUMAN	interferon regulatory factor 3	81	IRF tryptophan pentad repeat.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGAGGGCAGAGCGGAAATTCC	0.572													A	50166694	G	A	50166694	2	1	94	1	0	0	0	0	0	0	0	1	7831	958	34	2		2	IRF3	19	50166694	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1333	50166694	8962289	3256	62389											
AP2A1	160	broad.mit.edu	37	chr19	50304308	50304308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgattgctggggaccccCgctccaggtgagggagcctc	14	14	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50304308C>T	uc002ppn.2	+	12	1757	c.1546C>T	c.(1546-1548)CGC>TGC	p.R516C	AP2A1_uc010enj.1_Intron|AP2A1_uc002ppo.2_Missense_Mutation_p.R516C|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	516					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGGGGACCCCCGCTCCAGGTG	0.642													T	50304308	C	T	50304308	3	4	94	1	0	0	0	0	1	0	0	0	739	652	23	1	1592	1	AP2A1	19	50304308	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	137614	50304308	8824675	3257	62390											
FUZ	80199	broad.mit.edu	37	chr19	50314914	50314914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccttcttcagtctctccaCgttgcggatattggtcagtt	9	11	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50314914C>T	uc002ppq.1	-	4	466	c.361G>A	c.(361-363)GTG>ATG	p.V121M	FUZ_uc002ppr.1_Missense_Mutation_p.V21M|FUZ_uc002pps.1_RNA|FUZ_uc002ppt.1_RNA|FUZ_uc002ppu.1_Missense_Mutation_p.V85M|FUZ_uc002ppv.1_Missense_Mutation_p.V71M|FUZ_uc010ybd.1_Missense_Mutation_p.V121M	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	fuzzy homolog	121					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		AGTCTCTCCACGTTGCGGATA	0.493													T	50314914	C	T	50314914	3	4	94	1	0	0	0	0	1	0	0	0	6112	536	19	1	927	1	FUZ	19	50314914	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	10606	50314914	8814069	3258	62391											
IL4I1	259307	broad.mit.edu	37	chr19	50393711	50393711	+	Missense_Mutation	SNP	G	G	A													tcagcaccttcagattccgcGccgggggagaggtctcgatc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50393711G>A	uc002pqt.1	-	8	998	c.920C>T	c.(919-921)GCG>GTG	p.A307V	IL4I1_uc002pqv.1_Missense_Mutation_p.A316V|IL4I1_uc010eno.1_Missense_Mutation_p.A315V|IL4I1_uc002pqw.1_Missense_Mutation_p.A315V|IL4I1_uc002pqu.1_Missense_Mutation_p.A329V	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 1 precursor	307						lysosome	L-amino-acid oxidase activity			lung(1)|ovary(1)|prostate(1)	3		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		CAGATTCCGCGCCGGGGGAGA	0.682											OREG0025629	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	50393711	G	A	50393711	3	1	94	1	0	0	0	0	1	0	0	0	7697	1087	38	1	787	1	IL4I1	19	50393711	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	78797	50393711	8735272	3259	62392	299	2									
IL4I1	259307	broad.mit.edu	37	chr19	50393714	50393714	+	Missense_Mutation	SNP	G	G	A													gcaccttcagattccgcgccGggggagaggtctcgatctgc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50393714G>A	uc002pqt.1	-	8	995	c.917C>T	c.(916-918)CCG>CTG	p.P306L	IL4I1_uc002pqv.1_Missense_Mutation_p.P315L|IL4I1_uc010eno.1_Missense_Mutation_p.P314L|IL4I1_uc002pqw.1_Missense_Mutation_p.P314L|IL4I1_uc002pqu.1_Missense_Mutation_p.P328L	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 1 precursor	306						lysosome	L-amino-acid oxidase activity			lung(1)|ovary(1)|prostate(1)	3		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		ATTCCGCGCCGGGGGAGAGGT	0.687											OREG0025629	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	50393714	G	A	50393714	3	1	94	1	0	0	0	0	1	0	0	0	7697	1116	39	1	790	1	IL4I1	19	50393714	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3	50393714	8735269	3260	62393	299	2									
NUP62	23636	broad.mit.edu	37	chr19	50412080	50412080	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctccagctgcgcgtaggTcatggcggagctggcagccg	16	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50412080T>C	uc002pqx.2	-	2	1089	c.985A>G	c.(985-987)ACC>GCC	p.T329A	IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.T329A|NUP62_uc002pqz.2_Missense_Mutation_p.T329A|NUP62_uc002pra.2_Missense_Mutation_p.T329A|NUP62_uc002prb.2_Missense_Mutation_p.T329A|NUP62_uc002prc.2_Intron	NM_153719	NP_714941	P37198	NUP62_HUMAN	nucleoporin 62kDa	329	Ala-rich.|Potential.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding				0		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGCGCGTAGGTCATGGCGGAG	0.672													C	50412080	T	C	50412080	3	2	94	1	0	0	0	0	1	0	0	0	10768	1667	58	3	587	3	NUP62	19	50412080	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	18366	50412080	8716903	3261	62394											
MYH14	79784	broad.mit.edu	37	chr19	50812298	50812298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgagtcaagcagctgaagCggcagctggaggaggccgag	17	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50812298C>T	uc002prr.1	+	40	5748	c.5701C>T	c.(5701-5703)CGG>TGG	p.R1901W	MYH14_uc010enu.1_Missense_Mutation_p.R1942W|MYH14_uc002prq.1_Missense_Mutation_p.R1909W|MYH14_uc010ycb.1_Missense_Mutation_p.R252W|MYH14_uc002prs.1_Missense_Mutation_p.R252W	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	1901	Potential.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCAGCTGAAGCGGCAGCTGGA	0.617													T	50812298	C	T	50812298	3	4	94	1	0	0	0	0	1	0	0	0	10033	759	27	1	5986	1	MYH14	19	50812298	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	400218	50812298	8316685	3262	62395											
KCNC3	3748	broad.mit.edu	37	chr19	50831691	50831691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctccgtcgtgggcgcctgCggcgttggcggcgttggcgg	20	13	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50831691C>T	uc002pru.1	-	1	944	c.649G>A	c.(649-651)GCA>ACA	p.A217T	NR1H2_uc002prv.3_5'Flank	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Shaw-related voltage-gated potassium channel	217	Cytoplasmic (Potential).				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		TGGGCGCCTGCGGCGTTGGCG	0.637													T	50831691	C	T	50831691	3	4	94	1	0	0	0	0	1	0	0	0	8016	768	27	1	1640	1	KCNC3	19	50831691	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	19393	50831691	8297292	3263	62396											
POLD1	5424	broad.mit.edu	37	chr19	50905095	50905095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctccgtgcctgtgctccGcgccttcggggtcaccgatg	14	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50905095G>A	uc002psb.3	+	4	433	c.377G>A	c.(376-378)CGC>CAC	p.R126H	POLD1_uc002psc.3_Missense_Mutation_p.R126H|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.R126H	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	126					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CCTGTGCTCCGCGCCTTCGGG	0.687								DNA_polymerases_(catalytic_subunits)					A	50905095	G	A	50905095	3	1	94	1	0	0	0	0	1	0	0	0	12190	1087	38	1	387	1	POLD1	19	50905095	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	73404	50905095	8223888	3264	62397											
LRRC4B	94030	broad.mit.edu	37	chr19	51021093	51021093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacggacacggccgaggcgGcgggcagctcgtcctccacg	15	17	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:51021093G>A	uc002pss.2	-	3	2014	c.1877C>T	c.(1876-1878)GCC>GTC	p.A626V		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	626	Cytoplasmic (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGCCGAGGCGGCGGGCAGCTC	0.726													A	51021093	G	A	51021093	3	1	94	1	0	0	0	0	1	0	0	0	9007	1203	42	2	268	2	LRRC4B	19	51021093	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	115998	51021093	8107890	3265	62398											
SHANK1	50944	broad.mit.edu	37	chr19	51200866	51200866	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggggcatcaaagctgtcGtaggagcccacggtataatg	13	9	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:51200866G>A	uc002psx.1	-	13	1936	c.1917C>T	c.(1915-1917)TAC>TAT	p.Y639Y		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	639					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CAAAGCTGTCGTAGGAGCCCA	0.502													A	51200866	G	A	51200866	2	1	94	1	0	0	0	0	0	0	0	1	14264	1140	40	1		1	SHANK1	19	51200866	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	179773	51200866	7928117	3266	62399											
SHANK1	50944	broad.mit.edu	37	chr19	51220109	51220109	+	Frame_Shift_Del	DEL	C	C	-													gggagctgtcggactctgagCccccctcgggacactcgctg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:51220109delC	uc002psx.1	-	1	87	c.68delG	c.(67-69)GGCfs	p.G23fs		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	23					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGACTCTGAGCCCCCCTCGGG	0.726													-	51220109	C	-	51220109	7	5	94	1	0	1	0	1	0	0	0	0	14264	739	26	0	6509	0	SHANK1	19	51220109	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	19243	51220109	7908874	3267	62400											
GPR32	2854	broad.mit.edu	37	chr19	51274805	51274805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctcaaccccttcctctaCgtcttcgttggcagagattt	7	14	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:51274805C>T	uc010ycf.1	+	1	948	c.948C>T	c.(946-948)TAC>TAT	p.Y316Y		NM_001506	NP_001497	O75388	GPR32_HUMAN	G protein-coupled receptor 32	316	Helical; Name=7; (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCTTCCTCTACGTCTTCGTTG	0.542													T	51274805	C	T	51274805	2	4	94	1	0	0	0	0	0	0	0	1	6688	547	19	1		1	GPR32	19	51274805	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	54696	51274805	7854178	3268	62401											
KLK5	25818	broad.mit.edu	37	chr19	51452165	51452165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccaagcactttgtcccaGcagagggacaatgagaggag	12	10	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:51452165G>A	uc002pue.2	-	5	760	c.542C>T	c.(541-543)GCT>GTT	p.A181V	KLK5_uc002puf.2_Missense_Mutation_p.A181V|KLK5_uc002pug.2_Missense_Mutation_p.A181V	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	181	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		CTTTGTCCCAGCAGAGGGACA	0.527													A	51452165	G	A	51452165	3	1	94	1	0	0	0	0	1	0	0	0	8407	971	34	2	351	2	KLK5	19	51452165	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	177360	51452165	7676818	3269	62402											
KLK12	43849	broad.mit.edu	37	chr19	51535263	51535263	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcagccgcagcagccggAggtcgtgctcgtggctcgtc	17	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:51535263A>T	uc002pvg.1	-	3	446	c.326T>A	c.(325-327)CTC>CAC	p.L109H	KLK12_uc010ycp.1_RNA|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvh.1_Missense_Mutation_p.L109H|KLK12_uc002pvi.1_Missense_Mutation_p.L109H|KLK12_uc002pvj.1_Intron	NM_145894	NP_665901	Q9UKR0	KLK12_HUMAN	kallikrein 12 isoform 2	109	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			ovary(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		CAGCAGCCGGAGGTCGTGCTC	0.682													T	51535263	A	T	51535263	3	4	94	1	0	0	0	0	1	0	0	0	8400	304	11	5	494	5	KLK12	19	51535263	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	83098	51535263	7593720	3270	62403											
SIGLEC9	27180	broad.mit.edu	37	chr19	51633196	51633196	+	Frame_Shift_Del	DEL	C	C	-													acagtcccccagaccagcctCccccagcttctgcccgctcc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:51633196delC	uc002pvu.2	+	7	1319	c.1252delC	c.(1252-1254)CCCfs	p.P418fs	SIGLEC9_uc010yct.1_Intron	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9 precursor	418	Cytoplasmic (Potential).				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGACCAGCCTCCCCCAGCTTC	0.597													-	51633196	C	-	51633196	7	5	94	1	0	1	0	1	0	0	0	0	14315	855	30	0	1278	0	SIGLEC9	19	51633196	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	97933	51633196	7495787	3271	62404											
SIGLEC7	27036	broad.mit.edu	37	chr19	51645702	51645702	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagagtaaccggaaggatTactcgctgacgatgcagagt	13	7	0	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:51645702T>C	uc002pvv.1	+	1	145	c.76T>C	c.(76-78)TAC>CAC	p.Y26H	SIGLEC7_uc002pvw.1_Missense_Mutation_p.Y26H|SIGLEC7_uc010eoq.1_RNA|SIGLEC7_uc010eor.1_Missense_Mutation_p.Y26H	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7 isoform 1	26	Extracellular (Potential).				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			large_intestine(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CCGGAAGGATTACTCGCTGAC	0.507													C	51645702	T	C	51645702	3	2	94	1	0	0	0	0	1	0	0	0	14313	1754	61	3	78	3	SIGLEC7	19	51645702	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	12506	51645702	7483281	3272	62405											
ZNF649	65251	broad.mit.edu	37	chr19	52394603	52394603	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccacattcactgcacccGtatggtttctctcctttgtg	6	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:52394603G>A	uc002pxy.2	-	5	1054	c.786C>T	c.(784-786)TAC>TAT	p.Y262Y	ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	zinc finger protein 649	262	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CACTGCACCCGTATGGTTTCT	0.502													A	52394603	G	A	52394603	2	1	94	1	0	0	0	0	0	0	0	1	18061	1140	40	1		1	ZNF649	19	52394603	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	748901	52394603	6734380	3273	62406											
ZNF649	65251	broad.mit.edu	37	chr19	52399819	52399819	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtttgccggcttgataCcctgtttgtgggaaatggga	14	7	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:52399819C>T	uc002pxy.2	-	4	412	c.144G>A	c.(142-144)GGG>GGA	p.G48G		NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	zinc finger protein 649	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CGGCTTGATACCCTGTTTGTG	0.483													T	52399819	C	T	52399819	2	4	94	1	0	0	0	0	0	0	0	1	18061	521	18	4		4	ZNF649	19	52399819	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	5216	52399819	6729164	3274	62407											
ZNF613	79898	broad.mit.edu	37	chr19	52447818	52447819	+	Frame_Shift_Ins	INS	-	-	G													tcatcagagagttcacactgINSgggagaaacctcatggatgc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:52447817_52447818T>TG	uc002pxz.2	+	5	1145_1146	c.681_682T>TG	c.(679-684)actgggfs	p.T227fs	ZNF613_uc002pya.2_Frame_Shift_Ins_p.T191fs	NM_001031721	NP_079116	Q6PF04	ZN613_HUMAN	Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA.	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GAGTTCACACTGGGGAGAAACC	0.475													G	52447819	-	G	52447818	7	5	94	1	0	1	1	0	0	0	0	0	18035	1348	47	0	696	0	ZNF613	19	52447818	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	47999	52447818	6681165	3275	62408											
ZNF615	284370	broad.mit.edu	37	chr19	52497291	52497291	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagccttttccacattcactAcatatataaggtttttctcc	3	11	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:52497291A>G	uc002pye.1	-	6	1330	c.1038T>C	c.(1036-1038)TGT>TGC	p.C346C	ZNF615_uc002pyf.1_Silent_p.C357C|ZNF615_uc002pyg.1_Silent_p.C238C|ZNF615_uc002pyh.1_Silent_p.C357C|ZNF615_uc010epi.1_Silent_p.C353C|ZNF615_uc010ydg.1_Silent_p.C351C	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	346	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CACATTCACTACATATATAAG	0.408													G	52497291	A	G	52497291	2	3	94	1	0	0	0	0	0	0	0	1	18037	389	14	3		3	ZNF615	19	52497291	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	49473	52497291	6631692	3276	62409											
ZNF616	90317	broad.mit.edu	37	chr19	52618535	52618535	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtaaggtttctctccggTatgaattctctgatgtctat	8	7	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:52618535T>C	uc002pym.2	-	4	2165	c.1882A>G	c.(1882-1884)ACC>GCC	p.T628A	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	628					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTCTCTCCGGTATGAATTCTC	0.423													C	52618535	T	C	52618535	3	2	94	1	0	0	0	0	1	0	0	0	18038	1638	57	3	467	3	ZNF616	19	52618535	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	121244	52618535	6510448	3277	62410											
ZNF610	162963	broad.mit.edu	37	chr19	52869661	52869661	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcacacggcggaaaaacctTacaaatgtaatgaatgtggc	10	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:52869661T>C	uc002pyx.3	+	6	1436	c.1030T>C	c.(1030-1032)TAC>CAC	p.Y344H	ZNF610_uc002pyy.3_Missense_Mutation_p.Y344H|ZNF610_uc002pyz.3_Missense_Mutation_p.Y301H|ZNF610_uc002pza.2_Missense_Mutation_p.Y344H	NM_001161426	NP_001154898	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610 isoform a	344	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GGAAAAACCTTACAAATGTAA	0.393													C	52869661	T	C	52869661	3	2	94	1	0	0	0	0	1	0	0	0	18033	1754	61	3	1044	3	ZNF610	19	52869661	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	251126	52869661	6259322	3278	62411											
ZNF578	147660	broad.mit.edu	37	chr19	53014345	53014345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaatgtaatgagactggCgaagcctttaattgtagctc	9	8	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:53014345C>T	uc002pzp.3	+	6	955	c.711C>T	c.(709-711)GGC>GGT	p.G237G		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	12	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATGAGACTGGCGAAGCCTTTA	0.313													T	53014345	C	T	53014345	2	4	94	1	0	0	0	0	0	0	0	1	18007	755	27	1		1	ZNF578	19	53014345	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	144684	53014345	6114638	3279	62412											
ZNF611	81856	broad.mit.edu	37	chr19	53209776	53209776	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtagacttctcaagttgatTaccaatttcacctttgatct	5	9	3	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:53209776T>C	uc002pzz.2	-	7	849	c.532A>G	c.(532-534)AAT>GAT	p.N178D	ZNF611_uc010eqc.2_Missense_Mutation_p.N108D|ZNF611_uc010ydo.1_Missense_Mutation_p.N108D|ZNF611_uc010ydr.1_Missense_Mutation_p.N109D|ZNF611_uc010ydp.1_Missense_Mutation_p.N178D|ZNF611_uc010ydq.1_Missense_Mutation_p.N178D|ZNF611_uc002qaa.3_Missense_Mutation_p.N108D	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TCAAGTTGATTACCAATTTCA	0.388													C	53209776	T	C	53209776	3	2	94	1	0	0	0	0	1	0	0	0	18034	1754	61	3	1589	3	ZNF611	19	53209776	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	195431	53209776	5919207	3280	62413											
ZNF468	90333	broad.mit.edu	37	chr19	53352409	53352409	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtcctctgagcagggtccaGgcatttccactcctcctgag	10	14	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:53352409G>T	uc002qaf.2	-	3	224	c.73C>A	c.(73-75)CTG>ATG	p.L25M	ZNF468_uc002qae.2_Translation_Start_Site	NM_001008801	NP_001008801	Q5VIY5	ZN468_HUMAN	zinc finger protein ZNF468 isoform 2	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0358)		GCAGGGTCCAGGCATTTCCAC	0.488													T	53352409	G	T	53352409	3	4	94	1	0	0	0	0	1	0	0	0	17925	991	35	5	1503	5	ZNF468	19	53352409	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	142633	53352409	5776574	3281	62414											
ZNF816A	125893	broad.mit.edu	37	chr19	53454819	53454819	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggttgatgagaactccatcAtggattttaaagagctatct	9	6	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:53454819A>G	uc002qal.1	-	5	510	c.209T>C	c.(208-210)ATG>ACG	p.M70T	ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.M54T	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN	zinc finger protein 816A	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0313)		GAACTCCATCATGGATTTTAA	0.338													G	53454819	A	G	53454819	3	3	94	1	0	0	0	0	1	0	0	0	18174	217	8	3	1750	3	ZNF816A	19	53454819	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	102410	53454819	5674164	3282	62415											
ZNF347	84671	broad.mit.edu	37	chr19	53652530	53652530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctataattctccaacatcaCgtccctgtacaaagtcctct	3	15	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:53652530C>T	uc002qbb.1	-	3	175	c.106G>A	c.(106-108)GTG>ATG	p.V36M	ZNF347_uc010eql.1_Missense_Mutation_p.V36M|ZNF347_uc002qbc.1_Missense_Mutation_p.V36M	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		TCCAACATCACGTCCCTGTAC	0.493													T	53652530	C	T	53652530	3	4	94	1	0	0	0	0	1	0	0	0	17858	536	19	1	2428	1	ZNF347	19	53652530	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	197711	53652530	5476453	3283	62416											
ZNF761	388561	broad.mit.edu	37	chr19	53958607	53958607	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagaccttcagtcagacGtcatcccttacatgccatcg	8	14	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:53958607G>A	uc010eqp.2	+	7	1304	c.846G>A	c.(844-846)ACG>ACA	p.T282T	ZNF761_uc010ydy.1_Silent_p.T228T|ZNF761_uc002qbt.1_Silent_p.T228T	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	282	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		TCAGTCAGACGTCATCCCTTA	0.413													A	53958607	G	A	53958607	2	1	94	1	0	0	0	0	0	0	0	1	18133	1132	40	1		1	ZNF761	19	53958607	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	306077	53958607	5170376	3284	62417											
ZNF813	126017	broad.mit.edu	37	chr19	53994405	53994405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgaagaatgtgacaaaGctttcagtttcaaatcaaac	7	6	3	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:53994405G>A	uc002qbu.2	+	4	1047	c.919G>A	c.(919-921)GCT>ACT	p.A307T	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	307	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ATGTGACAAAGCTTTCAGTTT	0.388													A	53994405	G	A	53994405	3	1	94	1	0	0	0	0	1	0	0	0	18172	971	34	2	929	2	ZNF813	19	53994405	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	35798	53994405	5134578	3285	62418											
NLRP12	91662	broad.mit.edu	37	chr19	54301538	54301538	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgggatgttgcagcccctcAgccagcaaccacaggcccca	11	17	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:54301538A>G	uc002qch.3	-	8	3106	c.2886T>C	c.(2884-2886)GCT>GCC	p.A962A	NLRP12_uc010eqw.2_Intron|NLRP12_uc002qci.3_Intron|NLRP12_uc002qcj.3_Silent_p.A963A|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	962	LRR 5.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCAGCCCCTCAGCCAGCAACC	0.612													G	54301538	A	G	54301538	2	3	94	1	0	0	0	0	0	0	0	1	10474	175	7	3		3	NLRP12	19	54301538	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	307133	54301538	4827445	3286	62419											
CACNG8	59283	broad.mit.edu	37	chr19	54466598	54466598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacgacgggaccccccacCgcgggggcggcggcgcctcg	18	18	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:54466598C>T	uc002qcs.1	+	1	305	c.199C>T	c.(199-201)CGC>TGC	p.R67C		NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	voltage-dependent calcium channel gamma-8	68					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GACCCCCCACCGCGGGGGCGG	0.706													T	54466598	C	T	54466598	3	4	94	1	0	0	0	0	1	0	0	0	2563	652	23	1	204	1	CACNG8	19	54466598	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	165060	54466598	4662385	3287	62420											
PRPF31	26121	broad.mit.edu	37	chr19	54634837	54634837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttcctcaaggtcaagggcGagaagagtggccttatgtcc	13	9	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:54634837G>A	uc002qdh.2	+	14	1870	c.1474G>A	c.(1474-1476)GAG>AAG	p.E492K	PRPF31_uc010yek.1_3'UTR	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31 homolog	492					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			ovary(1)	1	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGTCAAGGGCGAGAAGAGTGG	0.562													A	54634837	G	A	54634837	3	1	94	1	0	0	0	0	1	0	0	0	12566	1059	37	1	1524	1	PRPF31	19	54634837	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	168239	54634837	4494146	3288	62421											
LILRB5	10990	broad.mit.edu	37	chr19	54758829	54758829	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgccatgactgacacagcaGggtcacgttctctcctgagg	11	12	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:54758829G>T	uc002qex.2	-	6	1135	c.1024C>A	c.(1024-1026)CTG>ATG	p.L342M	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.L333M|LILRB5_uc002qey.2_Missense_Mutation_p.L342M|LILRB5_uc002qez.2_Missense_Mutation_p.L242M|LILRB5_uc002qfa.1_Missense_Mutation_p.L232M|LILRB5_uc010yes.1_RNA	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	342	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGACACAGCAGGGTCACGTTC	0.567													T	54758829	G	T	54758829	3	4	94	1	0	0	0	0	1	0	0	0	8794	991	35	5	783	5	LILRB5	19	54758829	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	123992	54758829	4370154	3289	62422											
LILRB1	10859	broad.mit.edu	37	chr19	55143558	55143558	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccccatgcccgtgggtcGtcccgcgccatcttctccgt	10	19	2	0	rs141734642	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:55143558G>A	uc002qgj.2	+	6	871	c.531G>A	c.(529-531)TCG>TCA	p.S177S	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Silent_p.S177S|LILRB1_uc002qgk.2_Silent_p.S177S|LILRB1_uc002qgm.2_Silent_p.S177S|LILRB1_uc010erq.2_Silent_p.S177S|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	177	Ig-like C2-type 2.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		CCCGTGGGTCGTCCCGCGCCA	0.572										HNSCC(37;0.09)			A	55143558	G	A	55143558	2	1	94	1	0	0	0	0	0	0	0	1	8790	1132	40	1		1	LILRB1	19	55143558	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	384729	55143558	3985425	3290	62423											
FCAR	2204	broad.mit.edu	37	chr19	55401040	55401040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccaccaagattacacgacGcagaacttgatccgcatggc	8	13	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:55401040G>A	uc002qhr.1	+	5	872	c.675G>A	c.(673-675)ACG>ACA	p.T225T	FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Silent_p.T176T|FCAR_uc010esi.1_Silent_p.T102T|FCAR_uc002qhu.1_Silent_p.T129T|FCAR_uc002qhv.1_Silent_p.T203T|FCAR_uc002qhw.1_Silent_p.T213T|FCAR_uc002qhx.1_Silent_p.T117T|FCAR_uc002qhy.1_Silent_p.T191T|FCAR_uc002qhz.1_Missense_Mutation_p.A189T|FCAR_uc002qia.1_Silent_p.T116T	NM_002000	NP_001991	P24071	FCAR_HUMAN	Fc alpha receptor isoform a precursor	225	Extracellular (Potential).				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(193;0.0443)		ATTACACGACGCAGAACTTGA	0.527													A	55401040	G	A	55401040	2	1	94	1	0	0	0	0	0	0	0	1	5773	1087	38	1		1	FCAR	19	55401040	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	257482	55401040	3727943	3291	62424											
PPP1R12C	54776	broad.mit.edu	37	chr19	55607456	55607456	+	Frame_Shift_Del	DEL	G	G	-													ccctcatcctcgtcctggatGgggggccccccagccccacc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:55607455_55607455TG>T	uc002qix.3	-	7	1133	c.1117_1117CA>A	c.(1117-1119)atcfs	p.I373fs	PPP1R12C_uc010yfs.2_Frame_Shift_Del_p.I299fs|PPP1R12C_uc002qiy.3_Frame_Shift_Del_p.I373fs|Mir_324_uc021vbr.1_5'Flank	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.	373						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TCGTCCTGGATGGGGGGCCCC	0.642													-	55607456	G	-	55607456	7	5	94	1	0	1	0	1	0	0	0	0	12356	1335	47	0	1292	0	PPP1R12C	19	55607456	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	206416	55607456	3521527	3292	62425											
SAPS1	22870	broad.mit.edu	37	chr19	55758268	55758268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcgcagccgctcctcaccGctatctggcggctcctgggt	12	16	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:55758268G>A	uc002qjw.3	-	2	446	c.204C>T	c.(202-204)AGC>AGT	p.S68S	SAPS1_uc002qjv.2_Silent_p.S130S	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	SAPS domain family, member 1	68	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding				0		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GCTCCTCACCGCTATCTGGCG	0.527													A	55758268	G	A	55758268	2	1	94	1	0	0	0	0	0	0	0	1	13836	1078	38	1		1	SAPS1	19	55758268	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	150812	55758268	3370715	3293	62426											
ZNF628	89887	broad.mit.edu	37	chr19	55994827	55994827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggggctgggggcggccGtgcaaggcagggcccgcggg	23	11	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:55994827G>A	uc002qld.2	+	3	2820	c.2255G>A	c.(2254-2256)CGT>CAT	p.R752H	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	752	Gly-rich.					nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GGGGGCGGCCGTGCAAGGCAG	0.746													A	55994827	G	A	55994827	3	1	94	1	0	0	0	0	1	0	0	0	18049	1145	40	1	2257	1	ZNF628	19	55994827	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	236559	55994827	3134156	3294	62427											
CCDC106	29903	broad.mit.edu	37	chr19	56160817	56160817	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctggctctgatgaacagCgtcaagacccagctgcacat	10	14	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:56160817C>T	uc002qlr.2	+	4	915	c.180C>T	c.(178-180)AGC>AGT	p.S60S	CCDC106_uc002qls.2_Silent_p.S60S	NM_013301	NP_037433	Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	60						nucleus					0		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TGATGAACAGCGTCAAGACCC	0.652													T	56160817	C	T	56160817	2	4	94	1	0	0	0	0	0	0	0	1	2741	767	27	1		1	CCDC106	19	56160817	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	165990	56160817	2968166	3295	62428											
U2AF2	11338	broad.mit.edu	37	chr19	56171887	56171887	+	Frame_Shift_Del	DEL	C	C	-													tcccacctcccccagtcgttCcccccgccacgagaagaaga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:56171886_56171886TC>T	uc002qlu.3	+	3	1290	c.235_235TC>T	c.(235-237)tccfs	p.S79fs	U2AF2_uc002qlt.3_Frame_Shift_Del_p.S79fs	NM_007279	NP_009210	P26368	U2AF2_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.	79					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CCCCAGTCGTTCCCCCCGCCA	0.637													-	56171887	C	-	56171887	7	5	94	1	0	1	0	1	0	0	0	0	16820	855	30	0	250	0	U2AF2	19	56171887	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	11070	56171887	2957096	3296	62429											
EPN1	29924	broad.mit.edu	37	chr19	56203184	56203184	+	Frame_Shift_Del	DEL	G	G	-													tgccccgaccacagacccctGggggggcccagcacccatgg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:56203183_56203183TG>T	uc002qlw.3	+	6	1168	c.826_826TG>T	c.(826-828)tggfs	p.W276fs	EPN1_uc002qlv.3_Frame_Shift_Del_p.W251fs|EPN1_uc010etd.3_Frame_Shift_Del_p.W276fs|EPN1_uc002qlx.3_Frame_Shift_Del_p.W362fs	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	Homo sapiens epsin 1 (EPN1), transcript variant 2, mRNA.	276	8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CACAGACCCCTGGGGGGGCCC	0.692													-	56203184	G	-	56203184	7	5	94	1	0	1	0	1	0	0	0	0	5185	1357	47	0	1190	0	EPN1	19	56203184	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	31297	56203184	2925799	3297	62430											
NLRP13	126204	broad.mit.edu	37	chr19	56424302	56424302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgaactcttcaatggggGcatcaaaatcgggccaatcc	9	11	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:56424302G>A	uc010ygg.1	-	5	906	c.881C>T	c.(880-882)GCC>GTC	p.A294V		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	294	NACHT.						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTCAATGGGGGCATCAAAATC	0.403													A	56424302	G	A	56424302	3	1	94	1	0	0	0	0	1	0	0	0	10475	1203	42	2	2276	2	NLRP13	19	56424302	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	221118	56424302	2704681	3298	62431											
ZNF667	63934	broad.mit.edu	37	chr19	56952902	56952902	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtatgaattctcttatgtcGtgtgagagatattcggtggc	12	5	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:56952902G>A	uc002qnd.2	-	5	1624	c.1462C>T	c.(1462-1464)CGA>TGA	p.R488*	ZNF667_uc010etl.2_Nonsense_Mutation_p.R270*|ZNF667_uc002qne.2_Nonsense_Mutation_p.R488*|ZNF667_uc010etm.2_Nonsense_Mutation_p.R431*	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	488	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CTCTTATGTCGTGTGAGAGAT	0.428													A	56952902	G	A	56952902	4	1	94	1	0	0	0	0	0	1	0	0	18071	1153	40	1	374	1	ZNF667	19	56952902	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	528600	56952902	2176081	3299	62432											
ZFP28	140612	broad.mit.edu	37	chr19	57065374	57065374	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaaaaaagttcagtggTaataaaacaaacaggcatct	6	6	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:57065374T>C	uc002qnj.2	+	8	1291	c.1220T>C	c.(1219-1221)GTA>GCA	p.V407A	uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	zinc finger protein 28	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AGTTCAGTGGTAATAAAACAA	0.323													C	57065374	T	C	57065374	3	2	94	1	0	0	0	0	1	0	0	0	17639	1638	57	3	1250	3	ZFP28	19	57065374	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	112472	57065374	2063609	3300	62433											
ZFP28	140612	broad.mit.edu	37	chr19	57065512	57065512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttataaatgtaatgaatGtgggaaggcctttagtgacg	11	5	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:57065512G>A	uc002qnj.2	+	8	1429	c.1358G>A	c.(1357-1359)TGT>TAT	p.C453Y	uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	zinc finger protein 28	453	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TGTAATGAATGTGGGAAGGCC	0.423													A	57065512	G	A	57065512	3	1	94	1	0	0	0	0	1	0	0	0	17639	1377	48	4	1388	4	ZFP28	19	57065512	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	138	57065512	2063471	3301	62434											
ZIM2	23619	broad.mit.edu	37	chr19	57293379	57293379	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccctgtagaggtttctctgAgcagcactaagggaactaag	11	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:57293379A>G	uc002qnr.2	-	9	970	c.588T>C	c.(586-588)GCT>GCC	p.A196A	uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnq.2_Silent_p.A196A|ZIM2_uc010etp.2_Silent_p.A196A|ZIM2_uc010ygs.1_Silent_p.A196A	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	196	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GGTTTCTCTGAGCAGCACTAA	0.498													G	57293379	A	G	57293379	2	3	94	1	0	0	0	0	0	0	0	1	17681	291	11	3		3	ZIM2	19	57293379	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	227867	57293379	1835604	3302	62435											
PEG3	5178	broad.mit.edu	37	chr19	57327157	57327157	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagttgcgattcttactgcCcccttcacaagggttctctc	7	13	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:57327157C>A	uc002qnu.2	-	7	3004	c.2653G>T	c.(2653-2655)GGC>TGC	p.G885C	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G856C|PEG3_uc002qnv.2_Missense_Mutation_p.G885C|PEG3_uc002qnw.2_Missense_Mutation_p.G761C|PEG3_uc002qnx.2_Missense_Mutation_p.G759C|PEG3_uc010etr.2_Missense_Mutation_p.G885C	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	885					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTCTTACTGCCCCCTTCACAA	0.438													A	57327157	C	A	57327157	3	1	94	1	0	0	0	0	1	0	0	0	11720	623	22	5	2117	5	PEG3	19	57327157	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	33778	57327157	1801826	3303	62436											
ZNF17	7565	broad.mit.edu	37	chr19	57932053	57932053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaattctttagataccGttccacactcattagacatc	6	10	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:57932053G>A	uc002qoo.1	+	3	1424	c.1193G>A	c.(1192-1194)CGT>CAT	p.R398H	ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Missense_Mutation_p.R400H	NM_006959	NP_008890	P17021	ZNF17_HUMAN	zinc finger protein 17	398	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		TTTAGATACCGTTCCACACTC	0.383													A	57932053	G	A	57932053	3	1	94	1	0	0	0	0	1	0	0	0	17740	1145	40	1	1203	1	ZNF17	19	57932053	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	604896	57932053	1196930	3304	62437											
ZNF749	388567	broad.mit.edu	37	chr19	57956001	57956001	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggaaggccttccttacacaGgctcatctggttggtcacca	11	12	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:57956001G>T	uc002qoq.2	+	3	1739	c.1485G>T	c.(1483-1485)CAG>CAT	p.Q495H	ZNF547_uc002qpm.3_Intron	NM_001023561	NP_001018855	O43361	ZN749_HUMAN	zinc finger protein 749	495	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TCCTTACACAGGCTCATCTGG	0.458													T	57956001	G	T	57956001	3	4	94	1	0	0	0	0	1	0	0	0	18128	991	35	5	1495	5	ZNF749	19	57956001	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	23948	57956001	1172982	3305	62438											
ZNF419	79744	broad.mit.edu	37	chr19	58005046	58005046	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaaggccttacaagtgcaGcgactgtgggaaatttttta	11	6	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:58005046G>T	uc002qov.2	+	5	1361	c.1121G>T	c.(1120-1122)AGC>ATC	p.S374I	ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.S375I|ZNF419_uc010etz.1_Missense_Mutation_p.S362I|ZNF419_uc010eua.1_Missense_Mutation_p.S361I|ZNF419_uc002qow.2_Missense_Mutation_p.S342I|ZNF419_uc010eub.1_Missense_Mutation_p.S329I|ZNF419_uc010euc.1_Missense_Mutation_p.S328I	NM_024691	NP_078967	Q96HQ0	ZN419_HUMAN	zinc finger protein 419 isoform 2	374	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TACAAGTGCAGCGACTGTGGG	0.413													T	58005046	G	T	58005046	3	4	94	1	0	0	0	0	1	0	0	0	17893	971	34	5	1142	5	ZNF419	19	58005046	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	49045	58005046	1123937	3306	62439											
ZNF154	7710	broad.mit.edu	37	chr19	58213466	58213466	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttttatgagactggaatgaTatgtaaaaaacttcccacat	7	6	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:58213466T>C	uc010euf.2	-	3	1091	c.851A>G	c.(850-852)TAT>TGT	p.Y284C	ZNF776_uc002qpx.2_Intron|ZNF154_uc002qpy.2_RNA	NM_001085384	NP_001078853	Q13106	ZN154_HUMAN	zinc finger protein 154	284	C2H2-type 7.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ACTGGAATGATATGTAAAAAA	0.458													C	58213466	T	C	58213466	3	2	94	1	0	0	0	0	1	0	0	0	17732	1406	49	3	466	3	ZNF154	19	58213466	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	208420	58213466	915517	3307	62440											
ZNF587	84914	broad.mit.edu	37	chr19	58371388	58371388	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaatgttccagtctcatTaaacacaggagaattcacac	6	10	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:58371388T>C	uc002qql.2	+	3	1746	c.1608T>C	c.(1606-1608)ATT>ATC	p.I536I	ZNF587_uc002qqb.2_Silent_p.I493I|ZNF587_uc010yhh.1_Silent_p.I493I|ZNF587_uc002qqi.1_Silent_p.I493I|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Silent_p.I535I	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	536	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		CCAGTCTCATTAAACACAGGA	0.413													C	58371388	T	C	58371388	2	2	94	1	0	0	0	0	0	0	0	1	18017	1742	61	3		3	ZNF587	19	58371388	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	157922	58371388	757595	3308	62441											
ZNF256	10172	broad.mit.edu	37	chr19	58453484	58453484	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atctttccctaatgaggtctCcctggtgctgaacacgtaca	8	12	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:58453484C>A	uc002qqu.2	-	3	927	c.692G>T	c.(691-693)GGA>GTA	p.G231V	ZNF256_uc010euj.2_Missense_Mutation_p.G78V	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	231					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		AATGAGGTCTCCCTGGTGCTG	0.428													A	58453484	C	A	58453484	3	1	94	1	0	0	0	0	1	0	0	0	17796	855	30	5	1195	5	ZNF256	19	58453484	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	82096	58453484	675499	3309	62442											
ZNF497	162968	broad.mit.edu	37	chr19	58868129	58868129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgtgcgtgcgccggtgCtgccgcagccccgccacacg	14	18	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:58868129C>T	uc002qsh.1	-	3	1062	c.873G>A	c.(871-873)CAG>CAA	p.Q291Q	A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Silent_p.Q291Q|uc002qsj.1_5'Flank|uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	291	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TGCGCCGGTGCTGCCGCAGCC	0.706													T	58868129	C	T	58868129	2	4	94	1	0	0	0	0	0	0	0	1	17943	796	28	2		2	ZNF497	19	58868129	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	414645	58868129	260854	3310	62443											
RBCK1	10616	broad.mit.edu	37	chr20	409676	409676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacggctgcgactggatcCgctgcaccgtctgccacacc	12	16	1	0	rs145423115		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:409676C>T	uc002wdp.3	+	11	2083	c.1390C>T	c.(1390-1392)CGC>TGC	p.R464C	RBCK1_uc002wdq.3_Missense_Mutation_p.R422C|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Missense_Mutation_p.R294C	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing	464	IBR-type 2.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CGACTGGATCCGCTGCACCGT	0.662													T	409676	C	T	409676	3	4	94	1	0	0	0	0	1	0	0	0	13107	652	23	1	1451	1	RBCK1	20	409676	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08		409676	62615844	3311	62444											
PSMF1	9491	broad.mit.edu	37	chr20	1143792	1143792	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgtgatcccctgggcccGtttgttgtcgggggagaaga	17	8	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:1143792G>A	uc002wel.3	+	6	738	c.570G>A	c.(568-570)CCG>CCA	p.P190P	PSMF1_uc010zpo.1_Silent_p.P102P|PSMF1_uc002wem.3_Silent_p.P190P|PSMF1_uc010zpp.1_Silent_p.P128P|PSMF1_uc002wen.3_Silent_p.P190P|PSMF1_uc002wep.3_Silent_p.P141P	NM_178578	NP_848693	Q92530	PSMF1_HUMAN	proteasome inhibitor subunit 1	190	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding				0						CCCTGGGCCCGTTTGTTGTCG	0.522													A	1143792	G	A	1143792	2	1	94	1	0	0	0	0	0	0	0	1	12710	1132	40	1		1	PSMF1	20	1143792	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	734116	1143792	61881728	3312	62445											
PDYN	5173	broad.mit.edu	37	chr20	1961192	1961192	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagctcctcttggggtatTtgcgcaaaaagcccccatag	10	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:1961192T>C	uc010gaj.2	-	3	784	c.542A>G	c.(541-543)AAA>AGA	p.K181R	uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.K181R|PDYN_uc010zpt.1_Missense_Mutation_p.K26R	NM_024411	NP_077722	P01213	PDYN_HUMAN	beta-neoendorphin-dynorphin preproprotein	181					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			upper_aerodigestive_tract(1)|ovary(1)	2						CTTGGGGTATTTGCGCAAAAA	0.592													C	1961192	T	C	1961192	3	2	94	1	0	0	0	0	1	0	0	0	11699	1841	64	3	226	3	PDYN	20	1961192	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	817400	1961192	61064328	3313	62446											
TGM3	7053	broad.mit.edu	37	chr20	2290970	2290970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccagcgcacccataggaCggtacacaatggccctccag	10	16	0	0	rs139117716		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:2290970C>T	uc002wfx.3	+	3	425	c.328C>T	c.(328-330)CGG>TGG	p.R110W		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	110					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	ACCCATAGGACGGTACACAAT	0.552													T	2290970	C	T	2290970	3	4	94	1	0	0	0	0	1	0	0	0	15828	527	19	1	338	1	TGM3	20	2290970	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	329778	2290970	60734550	3314	62447											
GNRH2	2797	broad.mit.edu	37	chr20	3025350	3025350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctggacactgcagcaggCagcccagtccagactgccca	11	17	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:3025350C>T	uc002whr.1	+	3	231	c.180C>T	c.(178-180)GGC>GGT	p.G60G	GNRH2_uc002whp.1_Silent_p.G53G|GNRH2_uc002whq.1_Silent_p.G52G|GNRH2_uc010gau.1_Silent_p.G60G|MRPS26_uc002whs.2_5'Flank	NM_001501	NP_001492	O43555	GON2_HUMAN	gonadotropin-releasing hormone 2 isoform a	60					multicellular organismal development|signal transduction	extracellular region|soluble fraction	hormone activity				0						CTGCAGCAGGCAGCCCAGTCC	0.672													T	3025350	C	T	3025350	2	4	94	1	0	0	0	0	0	0	0	1	6548	724	25	2		2	GNRH2	20	3025350	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	734380	3025350	60000170	3315	62448											
ProSAPiP1	9762	broad.mit.edu	37	chr20	3146349	3146349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacctgctgtagcttccCgctgcagccctgccgcagct	11	18	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:3146349C>T	uc002wia.1	-	2	2515	c.1117G>A	c.(1117-1119)GGG>AGG	p.G373R	ProSAPiP1_uc002wib.1_Intron	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	373	Potential.					cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						TGTAGCTTCCCGCTGCAGCCC	0.706													T	3146349	C	T	3146349	3	4	94	1	0	0	0	0	1	0	0	0	12870	652	23	1	912	1	ProSAPiP1	20	3146349	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	120999	3146349	59879171	3316	62449											
SLC4A11	83959	broad.mit.edu	37	chr20	3209316	3209316	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccaccaggacgctggcgcCcagcgaggtcagccgcgtct	14	17	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:3209316C>A	uc002wig.2	-	17	2326	c.2278G>T	c.(2278-2280)GGC>TGC	p.G760C	SLC4A11_uc010zqe.1_Missense_Mutation_p.G787C|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.G744C	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	760	Membrane (bicarbonate transporter).|Helical; (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						ACGCTGGCGCCCAGCGAGGTC	0.672													A	3209316	C	A	3209316	3	1	94	1	0	0	0	0	1	0	0	0	14652	623	22	5	409	5	SLC4A11	20	3209316	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	62967	3209316	59816204	3317	62450											
C20orf194	25943	broad.mit.edu	37	chr20	3236681	3236681	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactgccgcagccagtcctTgatgctgtcttccttcaggg	11	13	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:3236681T>C	uc002wii.2	-	34	3283	c.3232A>G	c.(3232-3234)AAG>GAG	p.K1078E	C20orf194_uc002wij.3_Missense_Mutation_p.K817E|C20orf194_uc002wik.2_Missense_Mutation_p.K752E	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	1078											0						AGCCAGTCCTTGATGCTGTCT	0.572													C	3236681	T	C	3236681	3	2	94	1	0	0	0	0	1	0	0	0	2099	1821	63	3	317	3	C20orf194	20	3236681	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	27365	3236681	59788839	3318	62451											
C20orf194	25943	broad.mit.edu	37	chr20	3236756	3236756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgctgctgtcttgagataCgcttttggagtctggtggtg	14	9	2	1	rs140305967	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:3236756C>T	uc002wii.2	-	34	3208	c.3157G>A	c.(3157-3159)GTA>ATA	p.V1053I	C20orf194_uc002wij.3_Missense_Mutation_p.V792I|C20orf194_uc002wik.2_Missense_Mutation_p.V727I	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	1053											0						TCTTGAGATACGCTTTTGGAG	0.552													T	3236756	C	T	3236756	3	4	94	1	0	0	0	0	1	0	0	0	2099	536	19	1	392	1	C20orf194	20	3236756	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	75	3236756	59788764	3319	62452											
MAVS	57506	broad.mit.edu	37	chr20	3843058	3843058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgggcagtacccacacagCaggtatgcatggaatctgga	12	10	1	0	rs142678996	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:3843058C>T	uc002wjw.3	+	5	792	c.623C>T	c.(622-624)GCA>GTA	p.A208V	MAVS_uc010zqn.1_3'UTR|MAVS_uc002wjx.3_Missense_Mutation_p.A67V|MAVS_uc002wjy.3_5'UTR	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	208	Cytoplasmic (Probable).				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0						ACCCACACAGCAGGTATGCAT	0.562													T	3843058	C	T	3843058	3	4	94	1	0	0	0	0	1	0	0	0	9338	710	25	2	637	2	MAVS	20	3843058	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	606302	3843058	59182462	3320	62453											
SMOX	54498	broad.mit.edu	37	chr20	4163382	4163382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctctacccgcctgagcGctacggccatgtgctgagcg	12	15	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:4163382G>A	uc002wkm.1	+	5	1457	c.1256G>A	c.(1255-1257)CGC>CAC	p.R419H	SMOX_uc002wkk.1_Missense_Mutation_p.R366H|SMOX_uc002wkl.1_Missense_Mutation_p.R366H|SMOX_uc002wkn.1_Intron|SMOX_uc002wkp.2_Missense_Mutation_p.R419H|SMOX_uc010zqo.1_Missense_Mutation_p.R343H|SMOX_uc002wko.1_Missense_Mutation_p.R419H	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	spermine oxidase isoform 1	419					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)	1					Spermine(DB00127)	CCGCCTGAGCGCTACGGCCAT	0.612													A	4163382	G	A	4163382	3	1	94	1	0	0	0	0	1	0	0	0	14803	1087	38	1	1270	1	SMOX	20	4163382	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	320324	4163382	58862138	3321	62454											
SMOX	54498	broad.mit.edu	37	chr20	4163473	4163473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtggccgagatctgcacGgagatgctgcgtcagttcac	14	11	3	2	rs79238665		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:4163473G>A	uc002wkm.1	+	5	1548	c.1347G>A	c.(1345-1347)ACG>ACA	p.T449T	SMOX_uc002wkk.1_Silent_p.T396T|SMOX_uc002wkl.1_Silent_p.T396T|SMOX_uc002wkn.1_Intron|SMOX_uc002wkp.2_Silent_p.T449T|SMOX_uc010zqo.1_Silent_p.T373T|SMOX_uc002wko.1_Silent_p.T449T	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	spermine oxidase isoform 1	449					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)	1					Spermine(DB00127)	AGATCTGCACGGAGATGCTGC	0.657													A	4163473	G	A	4163473	2	1	94	1	0	0	0	0	0	0	0	1	14803	1103	39	1		1	SMOX	20	4163473	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	91	4163473	58862047	3322	62455											
RASSF2	9770	broad.mit.edu	37	chr20	4773205	4773205	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggagcttggcatctggTcaccctccggcggggcatcc	14	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:4773205T>C	uc002wld.2	-	5	410	c.356A>G	c.(355-357)GAC>GGC	p.D119G	RASSF2_uc002wlc.2_RNA|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.D119G	NM_170774	NP_739580	P50749	RASF2_HUMAN	Ras association domain family 2	119					cell cycle|signal transduction	nucleus	protein binding			ovary(3)|lung(2)|large_intestine(1)	6						TGGCATCTGGTCACCCTCCGG	0.537													C	4773205	T	C	4773205	3	2	94	1	0	0	0	0	1	0	0	0	13086	1667	58	3	652	3	RASSF2	20	4773205	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	609732	4773205	58252315	3323	62456											
LRRN4	164312	broad.mit.edu	37	chr20	6021784	6021784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccgcctgcagagacatgCggacagcaccacggtgctgg	14	15	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:6021784C>T	uc002wmo.2	-	5	2331	c.2107G>A	c.(2107-2109)GCA>ACA	p.A703T		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	703	Cytoplasmic (Potential).					integral to membrane				skin(3)	3						CAGAGACATGCGGACAGCACC	0.687													T	6021784	C	T	6021784	3	4	94	1	0	0	0	0	1	0	0	0	9037	768	27	1	119	1	LRRN4	20	6021784	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1248579	6021784	57003736	3324	62457											
PAK7	57144	broad.mit.edu	37	chr20	9546626	9546626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtgtgtttctcggtggCgatgcatacgatgccggttg	14	10	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:9546626C>T	uc002wnl.2	-	6	1941	c.1396G>A	c.(1396-1398)GCC>ACC	p.A466T	PAK7_uc002wnk.2_Missense_Mutation_p.A466T|PAK7_uc002wnj.2_Missense_Mutation_p.A466T|PAK7_uc010gby.1_Missense_Mutation_p.A466T	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	466	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)			TTCTCGGTGGCGATGCATACG	0.527													T	9546626	C	T	9546626	3	4	94	1	0	0	0	0	1	0	0	0	11405	768	27	1	787	1	PAK7	20	9546626	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3524842	9546626	53478894	3325	62458											
JAG1	182	broad.mit.edu	37	chr20	10620392	10620392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttcttgttctcataatcCttgatggggaccgtgttggc	12	8	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:10620392C>T	uc002wnw.2	-	26	3927	c.3411G>A	c.(3409-3411)AAG>AAA	p.K1137K		NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	1137	Cytoplasmic (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						TCTCATAATCCTTGATGGGGA	0.478									Alagille_Syndrome				T	10620392	C	T	10620392	2	4	94	1	0	0	0	0	0	0	0	1	7934	680	24	4		4	JAG1	20	10620392	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1073766	10620392	52405128	3326	62459											
ISM1	140862	broad.mit.edu	37	chr20	13251371	13251371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaaagctgatatcaatgGgcagaatccaaatatccagg	8	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:13251371G>A	uc010gce.1	+	2	365	c.359G>A	c.(358-360)GGG>GAG	p.G120E	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	120						extracellular region					0						GATATCAATGGGCAGAATCCA	0.438													A	13251371	G	A	13251371	3	1	94	1	0	0	0	0	1	0	0	0	7860	1232	43	4	365	4	ISM1	20	13251371	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2630979	13251371	49774149	3327	62460											
ISM1	140862	broad.mit.edu	37	chr20	13279875	13279875	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacagcactgctgctacggCgacaacatgcagctcatcac	9	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:13279875C>T	uc010gce.1	+	6	1170	c.1164C>T	c.(1162-1164)GGC>GGT	p.G388G	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	388	AMOP.					extracellular region					0						GCTGCTACGGCGACAACATGC	0.637													T	13279875	C	T	13279875	2	4	94	1	0	0	0	0	0	0	0	1	7860	755	27	1		1	ISM1	20	13279875	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	28504	13279875	49745645	3328	62461											
TASP1	55617	broad.mit.edu	37	chr20	13398144	13398144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccgacacacatgctctccGtcgtgtggctccacagaaat	8	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:13398144G>A	uc002woi.2	-	13	1238	c.1121C>T	c.(1120-1122)ACG>ATG	p.T374M	TASP1_uc010zri.1_RNA|TASP1_uc002woh.2_Missense_Mutation_p.T351M	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	taspase 1 precursor	374					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity				0						CATGCTCTCCGTCGTGTGGCT	0.423													A	13398144	G	A	13398144	3	1	94	1	0	0	0	0	1	0	0	0	15586	1145	40	1	149	1	TASP1	20	13398144	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	118269	13398144	49627376	3329	62462											
SEL1L2	80343	broad.mit.edu	37	chr20	13894524	13894524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatttccaaatagcaaagcGtcagccattttctccatagc	5	11	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:13894524G>A	uc010gcf.2	-	5	535	c.453C>T	c.(451-453)GAC>GAT	p.D151D	SEL1L2_uc002woq.3_Silent_p.D12D|SEL1L2_uc010zrl.1_Silent_p.D151D|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	151	Extracellular (Potential).|Sel1-like 2.					integral to membrane	binding			ovary(2)	2						ATAGCAAAGCGTCAGCCATTT	0.383													A	13894524	G	A	13894524	2	1	94	1	0	0	0	0	0	0	0	1	14011	1136	40	1		1	SEL1L2	20	13894524	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	496380	13894524	49130996	3330	62463											
FLRT3	23767	broad.mit.edu	37	chr20	14307035	14307035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccttgggcaggatacactGtgttgggtattgcagtggtt	15	6	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:14307035G>A	uc002wov.1	-	3	1585	c.1118C>T	c.(1117-1119)ACA>ATA	p.T373I	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.T373I	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	373	Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AGGATACACTGTGTTGGGTAT	0.483													A	14307035	G	A	14307035	3	1	94	1	0	0	0	0	1	0	0	0	5940	1377	48	4	835	4	FLRT3	20	14307035	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	412511	14307035	48718485	3331	62464											
FLRT3	23767	broad.mit.edu	37	chr20	14307226	14307226	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccatttcatcttgcacccGcaataccagggattgttgcg	8	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:14307226G>A	uc002wov.1	-	3	1394	c.927C>T	c.(925-927)TGC>TGT	p.C309C	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Silent_p.C309C	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	309	Extracellular (Potential).|LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TCTTGCACCCGCAATACCAGG	0.443													A	14307226	G	A	14307226	2	1	94	1	0	0	0	0	0	0	0	1	5940	1079	38	1		1	FLRT3	20	14307226	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	191	14307226	48718294	3332	62465											
KIF16B	55614	broad.mit.edu	37	chr20	16337073	16337073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaggtcatctggatttgCgcccaaagagcgagaaacca	10	11	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:16337073C>T	uc002wpg.1	-	23	3681	c.3523G>A	c.(3523-3525)GCA>ACA	p.A1175T	KIF16B_uc002wpe.1_Missense_Mutation_p.A557T|KIF16B_uc002wpf.1_Intron|KIF16B_uc010gch.1_Missense_Mutation_p.A1124T	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	1175					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						TCTGGATTTGCGCCCAAAGAG	0.493													T	16337073	C	T	16337073	3	4	94	1	0	0	0	0	1	0	0	0	8278	768	27	1	446	1	KIF16B	20	16337073	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2029847	16337073	46688447	3333	62466											
PCSK2	5126	broad.mit.edu	37	chr20	17417499	17417499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggccccgggagctcacgCtgcaggccatggccgatggc	16	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:17417499C>T	uc002wpm.2	+	8	1176	c.856C>T	c.(856-858)CTG>TTG	p.L286L	PCSK2_uc002wpl.2_Silent_p.L267L|PCSK2_uc010zrm.1_Silent_p.L251L	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	286	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGAGCTCACGCTGCAGGCCAT	0.627													T	17417499	C	T	17417499	2	4	94	1	0	0	0	0	0	0	0	1	11601	796	28	2		2	PCSK2	20	17417499	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1080426	17417499	45608021	3334	62467											
RRBP1	6238	broad.mit.edu	37	chr20	17640808	17640809	+	Frame_Shift_Ins	INS	-	-	G													cgacaggagcaacgataatgINSgggggctgcactggggttgg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:17640807_17640808T>TG	uc002wpw.1	-	1	622_623	c.345_346A>CA	c.(343-348)cccattfs	p.P115fs	RRBP1_uc002wpu.3_5'Flank|RRBP1_uc010gcl.1_Intron|RRBP1_uc002wpv.1_Frame_Shift_Ins_p.P115fs|RRBP1_uc021waw.1_Frame_Shift_Ins_p.P115fs|RRBP1_uc010zrq.1_Frame_Shift_Ins_p.P115fs|RRBP1_uc010zrr.1_Frame_Shift_Ins_p.P115fs	NM_004587	NP_004578	Q9P2E9	RRBP1_HUMAN	Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA.	563					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GCAACGATAATGGGGGGCTGCA	0.564													G	17640809	-	G	17640808	7	5	94	1	0	1	1	0	0	0	0	0	13678	1335	47	0	2684	0	RRBP1	20	17640808	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	223309	17640808	45384712	3335	62468											
CSRP2BP	57325	broad.mit.edu	37	chr20	18142882	18142882	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccacaagccttgtttcaTggtaagagtttgtttgcttt	8	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:18142882T>C	uc002wqj.2	+	6	1723	c.1101T>C	c.(1099-1101)CAT>CAC	p.H367H	CSRP2BP_uc002wqk.2_Silent_p.H239H|CSRP2BP_uc010zru.1_Silent_p.H238H	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	367					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						CCTTGTTTCATGGTAAGAGTT	0.473													C	18142882	T	C	18142882	2	2	94	1	0	0	0	0	0	0	0	1	3968	1478	51	3		3	CSRP2BP	20	18142882	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	502074	18142882	44882638	3336	62469											
NAA20	51126	broad.mit.edu	37	chr20	20007512	20007512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgccccagaatttcgacGccttggtttggctgctaaac	10	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:20007512G>A	uc002wrp.2	+	4	358	c.254G>A	c.(253-255)CGC>CAC	p.R85H	NAA20_uc002wrq.2_Missense_Mutation_p.R85H|NAA20_uc002wrr.2_Missense_Mutation_p.R73H	NM_016100	NP_057184	P61599	NAA20_HUMAN	N-acetyltransferase 5 isoform a	85	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity				0						GAATTTCGACGCCTTGGTTTG	0.458													A	20007512	G	A	20007512	3	1	94	1	0	0	0	0	1	0	0	0	10120	1087	38	1	289	1	NAA20	20	20007512	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1864630	20007512	43018008	3337	62470											
CRNKL1	51340	broad.mit.edu	37	chr20	20029078	20029078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcttcatttccatttctgCgtatttcagccagagtgtaa	6	9	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:20029078C>T	uc002wrs.2	-	5	879	c.847G>A	c.(847-849)GCA>ACA	p.A283T	CRNKL1_uc002wrt.1_Missense_Mutation_p.A271T	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	283	HAT 2.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3						TCCATTTCTGCGTATTTCAGC	0.438													T	20029078	C	T	20029078	3	4	94	1	0	0	0	0	1	0	0	0	3891	768	27	1	1743	1	CRNKL1	20	20029078	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	21566	20029078	42996442	3338	62471											
C20orf26	26074	broad.mit.edu	37	chr20	20258057	20258057	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccagaccccatctacagCgcctccttcaccacacccac	3	23	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:20258057C>T	uc002wru.2	+	22	2827	c.2751C>T	c.(2749-2751)AGC>AGT	p.S917S	C20orf26_uc010zse.1_Silent_p.S897S|C20orf26_uc002wrw.2_RNA	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	917										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		CCATCTACAGCGCCTCCTTCA	0.622													T	20258057	C	T	20258057	2	4	94	1	0	0	0	0	0	0	0	1	2106	767	27	1		1	C20orf26	20	20258057	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	228979	20258057	42767463	3339	62472											
PAX1	5075	broad.mit.edu	37	chr20	21690007	21690007	+	Frame_Shift_Del	DEL	C	C	-													cgcaaggtcctcctctggcgCcccccggggccggcgtagct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:21690006_21690006GC>G	uc002wsj.2	+	3	1260	c.1206_1206GC>G	c.(1204-1206)gcgfs	p.A402fs	PAX1_uc010zsl.2_Frame_Shift_Del_p.A402fs|PAX1_uc010zsm.2_Frame_Shift_Del_p.A378fs	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	402					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CTCCTCTGGCGCCCCCCGGGG	0.741													-	21690007	C	-	21690007	7	5	94	1	0	1	0	1	0	0	0	0	11478	739	26	0	1221	0	PAX1	20	21690007	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	1431950	21690007	41335513	3340	62473											
SSTR4	6754	broad.mit.edu	37	chr20	23017249	23017249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcaaccagaacccggcCgcaagcgcatccccctcacc	7	22	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:23017249C>T	uc002wsr.2	+	1	1193	c.1129C>T	c.(1129-1131)CGC>TGC	p.R377C		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	377	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGAACCCGGCCGCAAGCGCAT	0.652													T	23017249	C	T	23017249	3	4	94	1	0	0	0	0	1	0	0	0	15199	652	23	1	1131	1	SSTR4	20	23017249	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1327242	23017249	40008271	3341	62474											
GZF1	64412	broad.mit.edu	37	chr20	23346375	23346375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccgtccgcgctcaagaCgcacatgaggtacgcgggga	15	13	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:23346375C>T	uc010gdb.2	+	3	1529	c.1355C>T	c.(1354-1356)ACG>ATG	p.T452M	GZF1_uc002wsy.2_Missense_Mutation_p.T452M|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Missense_Mutation_p.T452M	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	452	C2H2-type 5.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GCGCTCAAGACGCACATGAGG	0.657													T	23346375	C	T	23346375	3	4	94	1	0	0	0	0	1	0	0	0	6914	536	19	1	1357	1	GZF1	20	23346375	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	329126	23346375	39679145	3342	62475											
GZF1	64412	broad.mit.edu	37	chr20	23350284	23350284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctcaacgccctccagcGccaccgccgcatccacacag	7	22	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:23350284G>A	uc010gdb.2	+	6	1865	c.1691G>A	c.(1690-1692)CGC>CAC	p.R564H	GZF1_uc002wsy.2_Missense_Mutation_p.R564H|GZF1_uc010zsq.1_Missense_Mutation_p.R88H|GZF1_uc010zsr.1_Missense_Mutation_p.R73H|GZF1_uc002wsz.2_Missense_Mutation_p.R564H	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	564	C2H2-type 9.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GCCCTCCAGCGCCACCGCCGC	0.632													A	23350284	G	A	23350284	3	1	94	1	0	0	0	0	1	0	0	0	6914	1087	38	1	1705	1	GZF1	20	23350284	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3909	23350284	39675236	3343	62476											
ACSS1	84532	broad.mit.edu	37	chr20	24988462	24988462	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcaggatctctgcgatgatgCtggggtcctccaaggtggta	14	9	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:24988462C>G	uc002wub.2	-	14	2884	c.2006G>C	c.(2005-2007)AGC>ACC	p.S669T	ACSS1_uc002wuc.2_Missense_Mutation_p.S667T|ACSS1_uc010gdc.2_Missense_Mutation_p.S464T|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Missense_Mutation_p.S586T	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	669					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGCGATGATGCTGGGGTCCTC	0.587													G	24988462	C	G	24988462	3	3	94	1	0	0	0	0	1	0	0	0	188	797	28	5	67	5	ACSS1	20	24988462	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1638178	24988462	38037058	3344	62477											
NINL	22981	broad.mit.edu	37	chr20	25443108	25443108	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgttttgggcctggtgggTagaagcctcctgtcccagtt	13	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:25443108T>C	uc002wux.1	-	20	3567	c.3493A>G	c.(3493-3495)ACC>GCC	p.T1165A	NINL_uc010gdn.1_Missense_Mutation_p.T816A	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	1165	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GCCTGGTGGGTAGAAGCCTCC	0.498													C	25443108	T	C	25443108	3	2	94	1	0	0	0	0	1	0	0	0	10420	1638	57	3	675	3	NINL	20	25443108	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	454646	25443108	37582412	3345	62478											
TPX2	22974	broad.mit.edu	37	chr20	30359471	30359471	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtagacatactgtgccttgTatgccacctgcaaagtaagt	10	9	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:30359471T>C	uc002wwp.1	+	7	1292	c.594T>C	c.(592-594)TGT>TGC	p.C198C	TPX2_uc010gdv.1_Silent_p.C198C	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated protein homolog	198					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			large_intestine(1)|ovary(1)	2			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CTGTGCCTTGTATGCCACCTG	0.398													C	30359471	T	C	30359471	2	2	94	1	0	0	0	0	0	0	0	1	16429	1644	57	3		3	TPX2	20	30359471	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	4916363	30359471	32666049	3346	62479											
DUSP15	128853	broad.mit.edu	37	chr20	30436212	30436212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgggggctgccttcagcGggtacaagaagaggaagcgg	18	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:30436212G>A	uc002wwu.1	-	10	960	c.883C>T	c.(883-885)CGC>TGC	p.R295C	FOXS1_uc002wwt.1_5'Flank			Q9H1R2	DUS15_HUMAN	RecName: Full=Dual specificity protein phosphatase 15;          EC=3.1.3.48;          EC=3.1.3.16; AltName: Full=Vaccinia virus VH1-related dual-specific protein phosphatase Y; AltName: Full=VH1-related member Y;	295						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGCCTTCAGCGGGTACAAGAA	0.637													A	30436212	G	A	30436212	3	1	94	1	0	0	0	0	1	0	0	0	4815	1131	39	1		1	DUSP15	20	30436212	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	76741	30436212	32589308	3347	62480											
TM9SF4	9777	broad.mit.edu	37	chr20	30723902	30723902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagctcaccagctctcgaaCccagctaccttatgaatact	6	14	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:30723902C>T	uc002wxj.2	+	3	390	c.155C>T	c.(154-156)ACC>ATC	p.T52I	TM9SF4_uc010ztr.1_5'UTR|TM9SF4_uc010zts.1_5'UTR|TM9SF4_uc002wxk.2_Missense_Mutation_p.T35I	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	52						integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGCTCTCGAACCCAGCTACCT	0.488													T	30723902	C	T	30723902	3	4	94	1	0	0	0	0	1	0	0	0	15977	507	18	4	165	4	TM9SF4	20	30723902	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	287690	30723902	32301618	3348	62481											
POFUT1	23509	broad.mit.edu	37	chr20	30797988	30797988	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcatcacaagcctccttTcaccaacgtgagtacttccc	5	17	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:30797988T>C	uc002wxp.2	+	2	288	c.239T>C	c.(238-240)TTC>TCC	p.F80S	POFUT1_uc002wxo.2_Missense_Mutation_p.F80S|POFUT1_uc010ztt.1_Intron|POFUT1_uc010ztu.1_Intron|PLAGL2_uc002wxn.2_5'Flank	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1 isoform 1	80					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)	1			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AAGCCTCCTTTCACCAACGTG	0.522													C	30797988	T	C	30797988	3	2	94	1	0	0	0	0	1	0	0	0	12183	1783	62	3	245	3	POFUT1	20	30797988	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	74086	30797988	32227532	3349	62482											
POFUT1	23509	broad.mit.edu	37	chr20	30803189	30803189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccactggccccctgagaagCgggtggcatactgctttgag	13	13	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:30803189C>T	uc002wxp.2	+	3	413	c.364C>T	c.(364-366)CGG>TGG	p.R122W	POFUT1_uc002wxo.2_Missense_Mutation_p.R122W|POFUT1_uc010ztt.1_Missense_Mutation_p.R14W|POFUT1_uc010ztu.1_Intron	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1 isoform 1	122					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)	1			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCCTGAGAAGCGGGTGGCATA	0.597													T	30803189	C	T	30803189	3	4	94	1	0	0	0	0	1	0	0	0	12183	759	27	1	374	1	POFUT1	20	30803189	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	5201	30803189	32222331	3350	62483											
ASXL1	171023	broad.mit.edu	37	chr20	31017153	31017153	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacgcaggcgaacaaacaaAagaaaaagactggggtgatg	13	6	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:31017153A>G	uc002wxs.2	+	6	910	c.484A>G	c.(484-486)AAG>GAG	p.K162E	ASXL1_uc010geb.2_Missense_Mutation_p.K104E	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	162	Nuclear localization signal 1 (Potential).				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						GAACAAACAAAAGAAAAAGAC	0.502			F|N|Mis		MDS|CMML								G	31017153	A	G	31017153	3	3	94	1	0	0	0	0	1	0	0	0	1066	15	1	3	516	3	ASXL1	20	31017153	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	213964	31017153	32008367	3351	62484											
DNMT3B	1789	broad.mit.edu	37	chr20	31380444	31380444	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgcagaaagctagggtgCgagctggcaagaccttcccc	12	12	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:31380444C>T	uc002wyc.2	+	9	1255	c.934C>T	c.(934-936)CGA>TGA	p.R312*	DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_Intron|DNMT3B_uc002wyd.2_Nonsense_Mutation_p.R312*|DNMT3B_uc002wye.2_Nonsense_Mutation_p.R312*|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Nonsense_Mutation_p.R270*|DNMT3B_uc010zua.1_Nonsense_Mutation_p.R236*|DNMT3B_uc002wyf.2_Nonsense_Mutation_p.R324*|DNMT3B_uc002wyg.2_Nonsense_Mutation_p.R11*	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	312					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5						AGCTAGGGTGCGAGCTGGCAA	0.637													T	31380444	C	T	31380444	4	4	94	1	0	0	0	0	0	1	0	0	4677	760	27	1	1004	1	DNMT3B	20	31380444	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	363291	31380444	31645076	3352	62485											
DNMT3B	1789	broad.mit.edu	37	chr20	31387129	31387129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcattgtttgatggcatcgCgacaggtgagttcggggaac	15	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:31387129C>T	uc002wyc.2	+	16	2075	c.1754C>T	c.(1753-1755)GCG>GTG	p.A585V	DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Missense_Mutation_p.A565V|DNMT3B_uc002wye.2_Missense_Mutation_p.A565V|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.A523V|DNMT3B_uc010zua.1_Missense_Mutation_p.A489V|DNMT3B_uc002wyf.2_Missense_Mutation_p.A577V|DNMT3B_uc002wyg.2_Missense_Mutation_p.A284V|DNMT3B_uc010geg.2_5'Flank|DNMT3B_uc010geh.2_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	585			A -> V (in ICF).		negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5						GATGGCATCGCGACAGGTGAG	0.577													T	31387129	C	T	31387129	3	4	94	1	0	0	0	0	1	0	0	0	4677	768	27	1	1852	1	DNMT3B	20	31387129	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	6685	31387129	31638391	3353	62486											
SUN5	140732	broad.mit.edu	37	chr20	31572905	31572905	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcagctcttcgcaggtacCtggagtgggaacatctggat	14	9	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:31572905C>A	uc002wyi.2	-	12	1077	c.984G>T	c.(982-984)CAG>CAT	p.Q328H		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	sperm associated antigen 4-like	328	SUN.				spermatogenesis					skin(1)	1						TCGCAGGTACCTGGAGTGGGA	0.308													A	31572905	C	A	31572905	3	1	94	1	0	0	0	0	1	0	0	0	15391	695	24	5	163	5	SUN5	20	31572905	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	185776	31572905	31452615	3354	62487											
SNTA1	6640	broad.mit.edu	37	chr20	31998031	31998031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctcctgcggtgactccaCgctgaacaggtgagtgtcca	12	13	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:31998031C>T	uc002wzd.1	-	6	1419	c.1147G>A	c.(1147-1149)GTG>ATG	p.V383M	SNTA1_uc010zuf.1_Missense_Mutation_p.V308M	NM_003098	NP_003089	Q13424	SNTA1_HUMAN	acidic alpha 1 syntrophin	383	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			skin(1)	1						GGTGACTCCACGCTGAACAGG	0.662													T	31998031	C	T	31998031	3	4	94	1	0	0	0	0	1	0	0	0	14871	536	19	1	382	1	SNTA1	20	31998031	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	425126	31998031	31027489	3355	62488											
TP53INP2	58476	broad.mit.edu	37	chr20	33297114	33297114	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcccgcgccctccttgAtggacgagagctggtttgtt	12	14	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:33297114A>G	uc002xau.1	+	4	534	c.199A>G	c.(199-201)ATG>GTG	p.M67V		NM_021202	NP_067025	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	67						nucleus					0						gcccTCCTTGATGGACGAGAG	0.512													G	33297114	A	G	33297114	3	3	94	1	0	0	0	0	1	0	0	0	16386	333	12	3	205	3	TP53INP2	20	33297114	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1299083	33297114	29728406	3356	62489											
NCOA6	23054	broad.mit.edu	37	chr20	33342540	33342540	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaacctgcatgctggacatTttgatttgcttgcagctgag	10	9	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:33342540T>C	uc002xav.2	-	9	4231	c.1660A>G	c.(1660-1662)AAT>GAT	p.N554D	NCOA6_uc002xaw.2_Missense_Mutation_p.N554D	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	554	TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						TGCTGGACATTTTGATTTGCT	0.338													C	33342540	T	C	33342540	3	2	94	1	0	0	0	0	1	0	0	0	10233	1841	64	3	4563	3	NCOA6	20	33342540	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	45426	33342540	29682980	3357	62490											
PROCR	10544	broad.mit.edu	37	chr20	33763974	33763974	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgactgtctatccacagttcCtctgaccatccgctgcttcc	6	16	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:33763974C>A	uc002xbt.2	+	3	510	c.326C>A	c.(325-327)CCT>CAT	p.P109H	EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Missense_Mutation_p.P146H	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	endothelial protein C receptor precursor	109	Extracellular (Potential).				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity				0			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	TCCACAGTTCCTCTGACCATC	0.582													A	33763974	C	A	33763974	3	1	94	1	0	0	0	0	1	0	0	0	12547	681	24	5	336	5	PROCR	20	33763974	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	421434	33763974	29261546	3358	62491											
FAM83C	128876	broad.mit.edu	37	chr20	33879731	33879731	+	Frame_Shift_Del	DEL	G	G	-													gccagcccaggtccaggtctGgggggtctatgtcagaggcc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:33879730_33879730TG>T	uc021wck.1	-	0	496	c.378_378CA>A	c.(376-378)ccafs	p.P126fs	FAM83C_uc002xcb.1_5'UTR	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	126										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGTCCAGGTCTGGGGGGTCTA	0.647													-	33879731	G	-	33879731	7	5	94	1	0	1	0	1	0	0	0	0	5635	1348	47	0	1882	0	FAM83C	20	33879731	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	115757	33879731	29145789	3359	62492											
CPNE1	8904	broad.mit.edu	37	chr20	34220121	34220121	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctctacctccatggtTactacacgattgtcctttaa	6	13	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:34220121T>C	uc002xdf.2	-	7	783	c.420A>G	c.(418-420)GTA>GTG	p.V140V	CPNE1_uc002xdc.2_5'Flank|CPNE1_uc010zvj.1_Silent_p.V145V|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdg.2_Silent_p.V140V|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Silent_p.V140V|CPNE1_uc002xdi.2_Silent_p.V140V|CPNE1_uc002xdj.2_Silent_p.V140V|CPNE1_uc002xdk.2_Silent_p.V140V|CPNE1_uc002xdl.2_Silent_p.V140V|CPNE1_uc002xdm.2_Silent_p.V140V|CPNE1_uc010gfk.1_Silent_p.V140V	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	140					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTCCATGGTTACTACACGAT	0.478													C	34220121	T	C	34220121	2	2	94	1	0	0	0	0	0	0	0	1	3811	1741	61	3		3	CPNE1	20	34220121	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	340390	34220121	28805399	3360	62493											
RBM12	10137	broad.mit.edu	37	chr20	34241114	34241114	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attattggcttcctttgatcCtacagtcaggaaggcatgct	9	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:34241114C>A	uc002xdq.2	-	3	2363	c.2131G>T	c.(2131-2133)GGA>TGA	p.G711*	CPNE1_uc010zvj.1_Intron|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Nonsense_Mutation_p.G711*|RBM12_uc002xds.2_Nonsense_Mutation_p.G711*	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	711	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCCTTTGATCCTACAGTCAGG	0.517													A	34241114	C	A	34241114	4	1	94	1	0	0	0	0	0	1	0	0	13113	690	24	5	671	5	RBM12	20	34241114	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	20993	34241114	28784406	3361	62494											
RBM39	9584	broad.mit.edu	37	chr20	34300954	34300954	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctacctgccacagcaccAaatgccaaagagccactcat	5	16	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:34300954A>G	uc002xeb.2	-	12	1505	c.1161T>C	c.(1159-1161)TTT>TTC	p.F387F	RBM39_uc002xdz.2_Silent_p.F363F|RBM39_uc002xea.2_Silent_p.F230F|RBM39_uc010gfn.2_Silent_p.F230F|RBM39_uc010zvm.1_Silent_p.F365F|RBM39_uc002xeg.2_Silent_p.F365F|RBM39_uc002xec.2_Silent_p.F387F|RBM39_uc002xed.2_Silent_p.F105F|RBM39_uc002xee.2_Silent_p.F230F|RBM39_uc002xef.2_Silent_p.F230F|RBM39_uc010zvn.1_Silent_p.F230F	NM_184234	NP_909122	Q14498	RBM39_HUMAN	RNA binding motif protein 39 isoform a	387	Interaction with ESR1 and ESR2 (By similarity).|Interaction with JUN (By similarity).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					CCACAGCACCAAATGCCAAAG	0.363													G	34300954	A	G	34300954	2	3	94	1	0	0	0	0	0	0	0	1	13133	127	5	3		3	RBM39	20	34300954	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	59840	34300954	28724566	3362	62495											
EPB41L1	2036	broad.mit.edu	37	chr20	34763505	34763505	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggagaaggactacagtgaGgccgatggcctttcggagag	17	7	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:34763505G>A	uc002xfb.2	+	3	381	c.210G>A	c.(208-210)GAG>GAA	p.E70E	EPB41L1_uc002xeu.2_Silent_p.E8E|EPB41L1_uc010zvo.1_Silent_p.E70E|EPB41L1_uc002xev.2_Silent_p.E70E|EPB41L1_uc002xew.2_Silent_p.E8E|EPB41L1_uc002xex.2_Silent_p.E39E|EPB41L1_uc002xey.2_Silent_p.E70E|EPB41L1_uc002xez.2_Silent_p.E8E	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	70					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					ACTACAGTGAGGCCGATGGCC	0.522													A	34763505	G	A	34763505	2	1	94	1	0	0	0	0	0	0	0	1	5152	991	35	4		4	EPB41L1	20	34763505	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	462551	34763505	28262015	3363	62496											
C20orf117	140710	broad.mit.edu	37	chr20	35422787	35422787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcatctgcctccctgggGggtcctggcaggccagggca	16	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:35422787G>A	uc002xgd.1	-	14	3311	c.2984C>T	c.(2983-2985)CCC>CTC	p.P995L	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	995											0		Myeloproliferative disorder(115;0.00874)				CCTCCCTGGGGGGTCCTGGCA	0.662													A	35422787	G	A	35422787	3	1	94	1	0	0	0	0	1	0	0	0	2083	1232	43	4	1357	4	C20orf117	20	35422787	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	659282	35422787	27602733	3364	62497											
RPN2	6185	broad.mit.edu	37	chr20	35812696	35812696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactaaaagcctcgctggatCgccctttcacaaatttggaa	8	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:35812696C>T	uc002xgp.2	+	2	431	c.127C>T	c.(127-129)CGC>TGC	p.R43C	RPN2_uc002xgo.3_Missense_Mutation_p.R43C|RPN2_uc010gfw.2_5'UTR|RPN2_uc002xgq.2_Missense_Mutation_p.R43C	NM_002951	NP_002942	P04844	RPN2_HUMAN	ribophorin II isoform 1 precursor	43	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				CTCGCTGGATCGCCCTTTCAC	0.542													T	35812696	C	T	35812696	3	4	94	1	0	0	0	0	1	0	0	0	13608	884	31	1	133	1	RPN2	20	35812696	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	389909	35812696	27212824	3365	62498											
RPN2	6185	broad.mit.edu	37	chr20	35858417	35858417	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgaggaagaagctccctcGactgtcttgtcccagaacct	9	14	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:35858417G>A	uc002xgp.2	+	13	1840	c.1536G>A	c.(1534-1536)TCG>TCA	p.S512S	RPN2_uc002xgq.2_Silent_p.S480S	NM_002951	NP_002942	P04844	RPN2_HUMAN	ribophorin II isoform 1 precursor	512	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				AAGCTCCCTCGACTGTCTTGT	0.473													A	35858417	G	A	35858417	2	1	94	1	0	0	0	0	0	0	0	1	13608	1045	37	1		1	RPN2	20	35858417	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	45721	35858417	27167103	3366	62499											
KIAA1755	85449	broad.mit.edu	37	chr20	36841830	36841830	+	Frame_Shift_Del	DEL	C	C	-													accctggcccttggctgccaCccctcttcgttctgggcgcg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:36841830delC	uc002xhy.1	-	14	3489	c.3217delG	c.(3217-3219)GTGfs	p.V1073fs	KIAA1755_uc002xhv.1_Frame_Shift_Del_p.V137fs|KIAA1755_uc002xhw.1_Frame_Shift_Del_p.V128fs|KIAA1755_uc002xhx.1_Frame_Shift_Del_p.V351fs	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	1073										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)				TTGGCTGCCACCCCTCTTCGT	0.607													-	36841830	C	-	36841830	7	5	94	1	0	1	0	1	0	0	0	0	8257	507	18	0	389	0	KIAA1755	20	36841830	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	983413	36841830	26183690	3367	62500											
KIAA1755	85449	broad.mit.edu	37	chr20	36859622	36859622	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctggggatggtacacaggTaggacagtagcttggtgacc	15	8	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:36859622T>C	uc002xhy.1	-	5	2125	c.1853A>G	c.(1852-1854)TAC>TGC	p.Y618C	KIAA1755_uc002xhz.1_Missense_Mutation_p.Y618C	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	618										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)				GGTACACAGGTAGGACAGTAG	0.632													C	36859622	T	C	36859622	3	2	94	1	0	0	0	0	1	0	0	0	8257	1638	57	3	1789	3	KIAA1755	20	36859622	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	17792	36859622	26165898	3368	62501											
RALGAPB	57148	broad.mit.edu	37	chr20	37150172	37150172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctagcatggagtttcgaCggaaagggtcacaaatgtcc	12	8	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:37150172C>T	uc002xiw.2	+	10	1707	c.1450C>T	c.(1450-1452)CGG>TGG	p.R484W	RALGAPB_uc010zvz.1_Intron|RALGAPB_uc002xix.2_Missense_Mutation_p.R484W|RALGAPB_uc002xiy.1_Missense_Mutation_p.R484W|RALGAPB_uc002xiz.2_Missense_Mutation_p.R262W|RALGAPB_uc002xja.1_Missense_Mutation_p.R211W	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	484					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						GGAGTTTCGACGGAAAGGGTC	0.453													T	37150172	C	T	37150172	3	4	94	1	0	0	0	0	1	0	0	0	13015	527	19	1	1484	1	RALGAPB	20	37150172	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	290550	37150172	25875348	3369	62502											
RALGAPB	57148	broad.mit.edu	37	chr20	37175008	37175008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataaacaagcatagtttccGgtactttgtcttggataaca	7	8	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:37175008G>A	uc002xiw.2	+	19	3094	c.2837G>A	c.(2836-2838)CGG>CAG	p.R946Q	RALGAPB_uc002xix.2_Missense_Mutation_p.R942Q|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.R724Q|RALGAPB_uc002xja.1_Missense_Mutation_p.R673Q	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	946					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						CATAGTTTCCGGTACTTTGTC	0.433													A	37175008	G	A	37175008	3	1	94	1	0	0	0	0	1	0	0	0	13015	1116	39	1	2907	1	RALGAPB	20	37175008	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	24836	37175008	25850512	3370	62503											
RALGAPB	57148	broad.mit.edu	37	chr20	37179730	37179730	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagctttttgtacctgaacCtcgcccagttcctaaaaatg	6	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:37179730C>A	uc002xiw.2	+	21	3283	c.3026C>A	c.(3025-3027)CCT>CAT	p.P1009H	RALGAPB_uc002xix.2_Missense_Mutation_p.P1005H|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.P787H	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	1009					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						GTACCTGAACCTCGCCCAGTT	0.388													A	37179730	C	A	37179730	3	1	94	1	0	0	0	0	1	0	0	0	13015	681	24	5	3104	5	RALGAPB	20	37179730	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4722	37179730	25845790	3371	62504											
SLC32A1	140679	broad.mit.edu	37	chr20	37353630	37353630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacatccattatcagcgagGcagcggagctcctctgccgc	11	14	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:37353630G>A	uc002xjc.2	+	1	526	c.263G>A	c.(262-264)GGC>GAC	p.G88D		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	88	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TATCAGCGAGGCAGCGGAGCT	0.672													A	37353630	G	A	37353630	3	1	94	1	0	0	0	0	1	0	0	0	14565	1203	42	2	265	2	SLC32A1	20	37353630	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	173900	37353630	25671890	3372	62505											
FAM83D	81610	broad.mit.edu	37	chr20	37580943	37580943	+	Frame_Shift_Del	DEL	C	C	-													ctatcccaagtacctgggcaCcccccacctggaactgtact							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:37580943delC	uc002xjg.2	+	4	1669	c.1628delC	c.(1627-1629)ACCfs	p.T543fs		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	hypothetical protein LOC81610	513					cell division|mitosis	cytoplasm|spindle pole				ovary(3)	3		Myeloproliferative disorder(115;0.00878)				TACCTGGGCACCCCCCACCTG	0.537													-	37580943	C	-	37580943	7	5	94	1	0	1	0	1	0	0	0	0	5636	507	18	0	1642	0	FAM83D	20	37580943	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	227313	37580943	25444577	3373	62506											
DHX35	60625	broad.mit.edu	37	chr20	37601269	37601269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgttggtgaaacaggatGtgggaagagcacacagattc	14	5	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:37601269G>A	uc002xjh.2	+	3	253	c.242G>A	c.(241-243)TGT>TAT	p.C81Y	DHX35_uc010zwa.1_Translation_Start_Site|DHX35_uc010zwb.1_Translation_Start_Site|DHX35_uc010zwc.1_Intron	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	81	Helicase ATP-binding.|ATP (By similarity).					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				GAAACAGGATGTGGGAAGAGC	0.358													A	37601269	G	A	37601269	3	1	94	1	0	0	0	0	1	0	0	0	4508	1377	48	4	252	4	DHX35	20	37601269	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	20326	37601269	25424251	3374	62507											
PLCG1	5335	broad.mit.edu	37	chr20	39791353	39791353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccgcagcctcatgtacagCgcccagaagacggtgcatga	11	13	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:39791353C>T	uc002xjp.1	+	6	790	c.669C>T	c.(667-669)AGC>AGT	p.S223S	PLCG1_uc002xjo.1_Silent_p.S223S|PLCG1_uc010zwe.1_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	223					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				TCATGTACAGCGCCCAGAAGA	0.647													T	39791353	C	T	39791353	2	4	94	1	0	0	0	0	0	0	0	1	12035	767	27	1		1	PLCG1	20	39791353	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2190084	39791353	23234167	3375	62508											
CHD6	84181	broad.mit.edu	37	chr20	40113055	40113055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggtgttgatgagattggGcatgttgtgctgatttgccc	14	6	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:40113055G>A	uc002xka.1	-	15	2372	c.2194C>T	c.(2194-2196)CCC>TCC	p.P732S	CHD6_uc002xkd.2_Missense_Mutation_p.P710S	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	732					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				ATGAGATTGGGCATGTTGTGC	0.493													A	40113055	G	A	40113055	3	1	94	1	0	0	0	0	1	0	0	0	3329	1203	42	2	6045	2	CHD6	20	40113055	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	321702	40113055	22912465	3376	62509											
PTPRT	11122	broad.mit.edu	37	chr20	40730915	40730915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtcctcgggccgcacaCggggtgtcacaatgttgagg	15	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:40730915C>T	uc002xkg.2	-	26	3747	c.3563G>A	c.(3562-3564)CGT>CAT	p.R1188H	PTPRT_uc010ggj.2_Missense_Mutation_p.R1207H|PTPRT_uc010ggi.2_Missense_Mutation_p.R391H	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1188	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)				GGGCCGCACACGGGGTGTCAC	0.562													T	40730915	C	T	40730915	3	4	94	1	0	0	0	0	1	0	0	0	12812	536	19	1	786	1	PTPRT	20	40730915	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	617860	40730915	22294605	3377	62510											
L3MBTL	26013	broad.mit.edu	37	chr20	42143746	42143746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgggcctcaccaagccgcGggtccagatcttggttcctc	12	15	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:42143746G>A	uc010zwh.1	+	5	580	c.534G>A	c.(532-534)GCG>GCA	p.A178A	L3MBTL_uc010ggk.1_Silent_p.A110A|L3MBTL_uc002xkl.2_Silent_p.A110A|L3MBTL_uc002xkm.2_Silent_p.A110A|L3MBTL_uc010ggl.2_Silent_p.A110A	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	110					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACCAAGCCGCGGGTCCAGATC	0.612													A	42143746	G	A	42143746	2	1	94	1	0	0	0	0	0	0	0	1	8591	1103	39	1		1	L3MBTL	20	42143746	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1412831	42143746	20881774	3378	62511											
MYBL2	4605	broad.mit.edu	37	chr20	42328423	42328423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgaccaactggccctcCgtccctcctaccataaagga	6	17	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:42328423C>T	uc002xlb.1	+	7	905	c.690C>T	c.(688-690)TCC>TCT	p.S230S	MYBL2_uc010zwj.1_Silent_p.S206S|MYBL2_uc002xla.1_Silent_p.S230S	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	230						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACTGGCCCTCCGTCCCTCCTA	0.443													T	42328423	C	T	42328423	2	4	94	1	0	0	0	0	0	0	0	1	10010	639	23	1		1	MYBL2	20	42328423	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	184677	42328423	20697097	3379	62512											
JPH2	57158	broad.mit.edu	37	chr20	42744671	42744671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggcgcaggcggtgcctgCagagcctcgatggccatgcg	17	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:42744671C>T	uc002xli.1	-	4	2517	c.1644G>A	c.(1642-1644)CTG>CTA	p.L548L		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	548	Pro-rich.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCGGTGCCTGCAGAGCCTCGA	0.741													T	42744671	C	T	42744671	2	4	94	1	0	0	0	0	0	0	0	1	7961	697	25	2		2	JPH2	20	42744671	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	416248	42744671	20280849	3380	62513											
JPH2	57158	broad.mit.edu	37	chr20	42788504	42788504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagcggaggccactggagCgttcgctcacgccgaagccc	14	15	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:42788504C>T	uc002xli.1	-	2	1796	c.923G>A	c.(922-924)CGC>CAC	p.R308H		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	308	MORN 7.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCACTGGAGCGTTCGCTCAC	0.672													T	42788504	C	T	42788504	3	4	94	1	0	0	0	0	1	0	0	0	7961	768	27	1	1183	1	JPH2	20	42788504	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	43833	42788504	20237016	3381	62514											
TTPAL	79183	broad.mit.edu	37	chr20	43109079	43109079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccatgtcgtctgcatccGcccaggtatctccctagact	8	16	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:43109079G>A	uc002xmc.1	+	3	564	c.440G>A	c.(439-441)CGC>CAC	p.R147H	TTPAL_uc002xmd.1_Missense_Mutation_p.R147H|TTPAL_uc010ggr.1_Missense_Mutation_p.A25T	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	147	CRAL-TRIO.					intracellular	transporter activity	p.R147C(1)		breast(1)	1						GTCTGCATCCGCCCAGGTATC	0.547													A	43109079	G	A	43109079	3	1	94	1	0	0	0	0	1	0	0	0	16734	1087	38	1	442	1	TTPAL	20	43109079	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	320575	43109079	19916441	3382	62515											
PABPC1L	80336	broad.mit.edu	37	chr20	43545461	43545461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgagacccatgaggccgCacagcaggccatcaacacca	9	14	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:43545461C>T	uc010ggv.1	+	3	534	c.452C>T	c.(451-453)GCA>GTA	p.A151V	PABPC1L_uc010zwq.1_RNA	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	poly(A)-binding protein, cytoplasmic 1-like	151	RRM 2.						nucleotide binding|RNA binding			ovary(1)	1						CATGAGGCCGCACAGCAGGCC	0.607													T	43545461	C	T	43545461	3	4	94	1	0	0	0	0	1	0	0	0	11364	710	25	2	462	2	PABPC1L	20	43545461	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	436382	43545461	19480059	3383	62516											
SEMG1	6406	broad.mit.edu	37	chr20	43836348	43836348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaggaggcaaagctcatcGtgggacacaaaatccttctc	9	10	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:43836348G>A	uc002xni.2	+	2	467	c.410G>A	c.(409-411)CGT>CAT	p.R137H	SEMG1_uc002xnj.2_Missense_Mutation_p.R137H|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.R137H	NM_003007	NP_002998	P04279	SEMG1_HUMAN	semenogelin I preproprotein	137					insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(2)	2		Myeloproliferative disorder(115;0.0122)				AAAGCTCATCGTGGGACACAA	0.418													A	43836348	G	A	43836348	3	1	94	1	0	0	0	0	1	0	0	0	14044	1145	40	1	416	1	SEMG1	20	43836348	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	290887	43836348	19189172	3384	62517											
SEMG1	6406	broad.mit.edu	37	chr20	43836680	43836680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaccaagacaaactccaaCatggatccaaagacattttt	5	12	0	2	rs138583556		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:43836680C>T	uc002xni.2	+	2	799	c.742C>T	c.(742-744)CAT>TAT	p.H248Y	SEMG1_uc002xnj.2_Missense_Mutation_p.H248Y|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.H248Y	NM_003007	NP_002998	P04279	SEMG1_HUMAN	semenogelin I preproprotein	248	42 AA repeat 2.				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(2)	2		Myeloproliferative disorder(115;0.0122)				CAAACTCCAACATGGATCCAA	0.398													T	43836680	C	T	43836680	3	4	94	1	0	0	0	0	1	0	0	0	14044	478	17	4	748	4	SEMG1	20	43836680	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	332	43836680	19188840	3385	62518											
PIGT	51604	broad.mit.edu	37	chr20	44050193	44050193	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgtgcacaccctcaccAtcacctccaagggcaaggag	9	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:44050193A>C	uc002xoh.1	+	9	1277	c.1204A>C	c.(1204-1206)ATC>CTC	p.I402L	PIGT_uc010ghd.1_Missense_Mutation_p.I309L|PIGT_uc010ghc.1_RNA|PIGT_uc010ghe.1_Missense_Mutation_p.I365L|PIGT_uc010ghf.1_Missense_Mutation_p.I355L|PIGT_uc002xoj.1_Intron|PIGT_uc002xok.1_Missense_Mutation_p.I367L|PIGT_uc010zwu.1_Missense_Mutation_p.I140L|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Missense_Mutation_p.I140L|PIGT_uc010zww.1_Missense_Mutation_p.I346L|PIGT_uc010zwx.1_Missense_Mutation_p.I237L|PIGT_uc010zwy.1_Missense_Mutation_p.I300L|PIGT_uc010zwz.1_Missense_Mutation_p.I140L|PIGT_uc010zxa.1_Missense_Mutation_p.I240L|PIGT_uc002xol.1_Intron|PIGT_uc010zxb.1_Missense_Mutation_p.I78L|PIGT_uc002xom.1_5'Flank	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	402	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)				CACCCTCACCATCACCTCCAA	0.607													C	44050193	A	C	44050193	3	2	94	1	0	0	0	0	1	0	0	0	11899	217	8	5	1238	5	PIGT	20	44050193	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	213513	44050193	18975327	3386	62519											
ZSWIM3	140831	broad.mit.edu	37	chr20	44505406	44505406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaatcaaacaggaagagaaCgcgggaggcagacatgtgcc	13	10	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:44505406C>T	uc002xqd.2	+	2	412	c.209C>T	c.(208-210)ACG>ATG	p.T70M	ZSWIM3_uc010zxg.1_Missense_Mutation_p.T64M	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	70							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				AGGAAGAGAACGCGGGAGGCA	0.478													T	44505406	C	T	44505406	3	4	94	1	0	0	0	0	1	0	0	0	18239	536	19	1	215	1	ZSWIM3	20	44505406	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	455213	44505406	18520114	3387	62520											
C20orf165	128497	broad.mit.edu	37	chr20	44515671	44515671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccccaggcctgggcagCaggtgccacctgctcagctt	14	15	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:44515671C>T	uc002xqf.2	-	2	178	c.169G>A	c.(169-171)GCT>ACT	p.A57T		NM_080608	NP_542175	Q9BR10	CT165_HUMAN	chromosome 20 open reading frame 165	57						integral to membrane					0		Myeloproliferative disorder(115;0.0122)				GCCTGGGCAGCAGGTGCCACC	0.637													T	44515671	C	T	44515671	3	4	94	1	0	0	0	0	1	0	0	0	2094	710	25	2	518	2	C20orf165	20	44515671	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	10265	44515671	18509849	3388	62521											
PCIF1	63935	broad.mit.edu	37	chr20	44571745	44571745	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcctgcaggcattgagcCtccacgggagtctttcaacc	10	14	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:44571745C>A	uc002xqs.2	+	8	997	c.683C>A	c.(682-684)CCT>CAT	p.P228H	PCIF1_uc002xqt.2_5'Flank	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	228						nucleus				skin(1)	1						GGCATTGAGCCTCCACGGGAG	0.552													A	44571745	C	A	44571745	3	1	94	1	0	0	0	0	1	0	0	0	11580	681	24	5	705	5	PCIF1	20	44571745	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	56074	44571745	18453775	3389	62522											
CD40	958	broad.mit.edu	37	chr20	44750990	44750990	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaccagcacaaatactgCgaccccagtgcgtgcgctgt	10	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:44750990C>T	uc002xrg.1	+	3	326	c.249C>T	c.(247-249)TGC>TGT	p.C83C	CD40_uc002xrf.1_Silent_p.C83C|CD40_uc002xrh.1_Silent_p.C83C|CD40_uc002xri.1_Silent_p.C83C|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA	NM_001250	NP_001241	P25942	TNR5_HUMAN	CD40 antigen isoform 1 precursor	83	TNFR-Cys 2.|Extracellular (Potential).				B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			lung(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	ACAAATACTGCGACCCCAGTG	0.393									Immune_Deficiency_with_Hyper-IgM				T	44750990	C	T	44750990	2	4	94	1	0	0	0	0	0	0	0	1	3015	776	27	1		1	CD40	20	44750990	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	179245	44750990	18274530	3390	62523											
TP53RK	112858	broad.mit.edu	37	chr20	45315634	45315634	+	Frame_Shift_Del	DEL	G	G	-													cacaatgttcagctgttccaGggggggtttcaggagcatgt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:45315633_45315633AG>A	uc002xsk.3	-	1	744	c.521_521CT>T	c.(520-522)ctgfs	p.L174fs	SLC13A3_uc002xsg.2_5'Flank|SLC13A3_uc010gho.2_5'Flank|TP53RK_uc002xsj.3_3'UTR	NM_033550	NP_291028	Q96S44	PRPK_HUMAN	Homo sapiens TP53 regulating kinase (TP53RK), mRNA.	174	Protein kinase.				lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L174fs*23(2)		kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CAGCTGTTCCAGGGGGGGTTT	0.493													-	45315634	G	-	45315634	7	5	94	1	0	1	0	1	0	0	0	0	16387	991	35	0	245	0	TP53RK	20	45315634	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	564644	45315634	17709886	3391	62524											
ZMYND8	23613	broad.mit.edu	37	chr20	45875072	45875073	+	Frame_Shift_Ins	INS	-	-	T													tgggtttgtaggcttgggctINStttttttaacagcagatggc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:45875071_45875072C>CT	uc010zxy.1	-	13	2067_2068	c.1985_1986G>AG	c.(1984-1986)aagfs	p.K662fs	ZMYND8_uc010ghq.1_Frame_Shift_Ins_p.K312fs|ZMYND8_uc010ghr.1_Frame_Shift_Ins_p.K610fs|ZMYND8_uc002xst.1_Frame_Shift_Ins_p.K563fs|ZMYND8_uc002xsu.1_Frame_Shift_Ins_p.K635fs|ZMYND8_uc002xsv.1_Frame_Shift_Ins_p.K563fs|ZMYND8_uc002xsw.1_Frame_Shift_Ins_p.K387fs|ZMYND8_uc002xsx.1_Frame_Shift_Ins_p.K387fs|ZMYND8_uc002xsy.1_Frame_Shift_Ins_p.K610fs|ZMYND8_uc002xsz.1_Frame_Shift_Ins_p.K572fs|ZMYND8_uc002xta.1_Frame_Shift_Ins_p.K635fs|ZMYND8_uc002xtb.1_Frame_Shift_Ins_p.K655fs|ZMYND8_uc002xss.2_Frame_Shift_Ins_p.K635fs|ZMYND8_uc010zxz.1_Frame_Shift_Ins_p.K630fs|ZMYND8_uc002xtc.1_Frame_Shift_Ins_p.K655fs|ZMYND8_uc002xtd.1_Frame_Shift_Ins_p.K630fs|ZMYND8_uc002xte.1_Frame_Shift_Ins_p.K635fs|ZMYND8_uc010zya.1_Frame_Shift_Ins_p.K635fs|ZMYND8_uc002xtf.1_Frame_Shift_Ins_p.K655fs|ZMYND8_uc002xtg.3_Frame_Shift_Ins_p.K629fs|ZMYND8_uc010ghs.2_Frame_Shift_Ins_p.K629fs	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	635							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TAGGCTTGGGCTTTTTTTTAAC	0.49													T	45875073	-	T	45875072	7	5	94	1	0	1	1	0	0	0	0	0	17708	1609	56	0	1642	0	ZMYND8	20	45875072	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	559438	45875072	17150448	3392	62525											
NCOA3	8202	broad.mit.edu	37	chr20	46268504	46268504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattcccacattgcctcttcGgtctaatagcataccaggtg	7	12	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:46268504G>A	uc002xtk.2	+	15	3096	c.2891G>A	c.(2890-2892)CGG>CAG	p.R964Q	NCOA3_uc010ght.1_Missense_Mutation_p.R959Q|NCOA3_uc002xtl.2_Missense_Mutation_p.R964Q|NCOA3_uc002xtm.2_Missense_Mutation_p.R964Q|NCOA3_uc002xtn.2_Missense_Mutation_p.R964Q|NCOA3_uc010zyc.1_Missense_Mutation_p.R759Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	964					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						TTGCCTCTTCGGTCTAATAGC	0.463													A	46268504	G	A	46268504	3	1	94	1	0	0	0	0	1	0	0	0	10230	1116	39	1	2971	1	NCOA3	20	46268504	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	393432	46268504	16757016	3393	62526											
PREX1	57580	broad.mit.edu	37	chr20	47253165	47253165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttggagaaggtgcacaCggcggccaccagggcctggc	16	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:47253165C>T	uc002xtw.1	-	32	4026	c.4003G>A	c.(4003-4005)GTG>ATG	p.V1335M	PREX1_uc002xtv.1_Missense_Mutation_p.V632M	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	1335					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AAGGTGCACACGGCGGCCACC	0.682													T	47253165	C	T	47253165	3	4	94	1	0	0	0	0	1	0	0	0	12476	536	19	1	1012	1	PREX1	20	47253165	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	984661	47253165	15772355	3394	62527											
ARFGEF2	10564	broad.mit.edu	37	chr20	47601337	47601337	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgggaacgtcagttgaagAcatagcccaattcctgcacc	10	12	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:47601337A>G	uc002xtx.3	+	15	2182	c.2030A>G	c.(2029-2031)GAC>GGC	p.D677G	ARFGEF2_uc010zyf.1_5'UTR	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	677	SEC7.				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCAGTTGAAGACATAGCCCAA	0.527													G	47601337	A	G	47601337	3	3	94	1	0	0	0	0	1	0	0	0	853	275	10	3	2088	3	ARFGEF2	20	47601337	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	348172	47601337	15424183	3395	62528											
CSE1L	1434	broad.mit.edu	37	chr20	47688880	47688880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagatttgtgataatgccGcactctatgcacaaaagtac	7	11	1	2	rs149344844		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:47688880G>A	uc002xty.2	+	9	960	c.826G>A	c.(826-828)GCA>ACA	p.A276T	CSE1L_uc010zyg.1_Missense_Mutation_p.A59T|CSE1L_uc010ghx.2_Intron|CSE1L_uc010ghy.2_5'UTR|CSE1L_uc010zyh.1_5'Flank	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	276					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TGATAATGCCGCACTCTATGC	0.403													A	47688880	G	A	47688880	3	1	94	1	0	0	0	0	1	0	0	0	3930	1087	38	1	856	1	CSE1L	20	47688880	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	87543	47688880	15336640	3396	62529											
ZNFX1	57169	broad.mit.edu	37	chr20	47863850	47863850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcatcaggttgttggccGtgtcagaccaggcagcatgc	13	10	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:47863850G>A	uc002xui.2	-	14	5958	c.5711C>T	c.(5710-5712)ACG>ATG	p.T1904M		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1904							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTTGTTGGCCGTGTCAGACCA	0.517													A	47863850	G	A	47863850	3	1	94	1	0	0	0	0	1	0	0	0	18202	1145	40	1	49	1	ZNFX1	20	47863850	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	174970	47863850	15161670	3397	62530											
TMEM189-UBE2V1	387522	broad.mit.edu	37	chr20	48713282	48713282	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcttctagaccccagctaActgtgccatctcctactcct	4	17	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:48713282A>G	uc002xvf.2	-	6	928	c.767T>C	c.(766-768)GTT>GCT	p.V256A	UBE2V1_uc002xvb.2_Intron|UBE2V1_uc002xva.2_Missense_Mutation_p.V33A|UBE2V1_uc002xvc.2_Intron|UBE2V1_uc002xvd.2_Missense_Mutation_p.V56A|UBE2V1_uc002xve.2_Missense_Mutation_p.V56A	NM_199203	NP_954673	Q13404	UB2V1_HUMAN	TMEM189-UBE2V1 readthrough transcript	33					cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein K63-linked ubiquitination|regulation of DNA repair|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|UBC13-UEV1A complex|ubiquitin ligase complex	acid-amino acid ligase activity|protein binding				0			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			ACCCCAGCTAACTGTGCCATC	0.443													G	48713282	A	G	48713282	3	3	94	1	0	0	0	0	1	0	0	0	16109	43	2	3	357	3	TMEM189-UBE2V1	20	48713282	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	849432	48713282	14312238	3398	62531											
ATP9A	10079	broad.mit.edu	37	chr20	50226683	50226683	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagggacggaggcaaagtAaaacacggaggaaaagacag	16	5	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:50226683A>G	uc002xwg.1	-	24	2593	c.2593T>C	c.(2593-2595)TAC>CAC	p.Y865H	ATP9A_uc010gih.1_Missense_Mutation_p.Y729H|ATP9A_uc002xwf.1_Missense_Mutation_p.Y37H	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	865	Extracellular (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						GAGGCAAAGTAAAACACGGAG	0.388													G	50226683	A	G	50226683	3	3	94	1	0	0	0	0	1	0	0	0	1198	362	13	3	570	3	ATP9A	20	50226683	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1513401	50226683	12798837	3399	62532											
SALL4	57167	broad.mit.edu	37	chr20	50400983	50400983	+	Frame_Shift_Del	DEL	C	C	-													ggaaaccgggagggtaggaaCccccccactctggatcacag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:50400983delC	uc002xwh.3	-	4	3084	c.2983delG	c.(2983-2985)GTTfs	p.V995fs	SALL4_uc010gii.2_Frame_Shift_Del_p.V558fs|SALL4_uc002xwi.3_Frame_Shift_Del_p.V218fs	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	995					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						AGGGTAGGAACCCCCCCACTC	0.562													-	50400983	C	-	50400983	7	5	94	1	0	1	0	1	0	0	0	0	13813	507	18	0	182	0	SALL4	20	50400983	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	174300	50400983	12624537	3400	62533											
ZNF217	7764	broad.mit.edu	37	chr20	52199236	52199236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcggaatggaacaacagCggtccctttcattgacaagg	11	10	1	1	rs141827117		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:52199236C>T	uc002xwq.3	-	1	401	c.130G>A	c.(130-132)GCT>ACT	p.A44T	ZNF217_uc010gij.1_Missense_Mutation_p.A36T	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	44					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GGAACAACAGCGGTCCCTTTC	0.478													T	52199236	C	T	52199236	3	4	94	1	0	0	0	0	1	0	0	0	17769	768	27	1	3032	1	ZNF217	20	52199236	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1798253	52199236	10826284	3401	62534											
CBLN4	140689	broad.mit.edu	37	chr20	54578981	54578981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgttgctcatctcggatgGctcgtggttggtgctccgca	13	11	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:54578981G>A	uc002xxa.2	-	1	1032	c.247C>T	c.(247-249)CCA>TCA	p.P83S		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	83	C1q.					cell junction|extracellular region|synapse				ovary(3)|pancreas(1)	4			Colorectal(105;0.202)			ATCTCGGATGGCTCGTGGTTG	0.647													A	54578981	G	A	54578981	3	1	94	1	0	0	0	0	1	0	0	0	2707	1203	42	2	370	2	CBLN4	20	54578981	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2379745	54578981	8446539	3402	62535											
MC3R	4159	broad.mit.edu	37	chr20	54824415	54824415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccatctgggtctgctgCggcgtctgtggcgtggtgtt	18	9	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:54824415C>T	uc002xxb.2	+	1	628	c.516C>T	c.(514-516)TGC>TGT	p.C172C		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	209	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)|breast(2)	4			Colorectal(105;0.202)			GGGTCTGCTGCGGCGTCTGTG	0.572													T	54824415	C	T	54824415	2	4	94	1	0	0	0	0	0	0	0	1	9365	776	27	1		1	MC3R	20	54824415	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	245434	54824415	8201105	3403	62536											
AURKA	6790	broad.mit.edu	37	chr20	54961466	54961466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgcttgcaaaggaatgcGctgggaagaatttgaaggac	14	5	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:54961466G>A	uc002xxd.1	-	5	732	c.166C>T	c.(166-168)CGC>TGC	p.R56C	AURKA_uc002xxe.1_Missense_Mutation_p.R56C|AURKA_uc002xxf.1_Missense_Mutation_p.R56C|AURKA_uc002xxg.1_Missense_Mutation_p.R56C|AURKA_uc002xxh.1_Missense_Mutation_p.R56C|AURKA_uc002xxi.1_Missense_Mutation_p.R56C|AURKA_uc002xxj.1_Missense_Mutation_p.R56C|AURKA_uc002xxk.1_Missense_Mutation_p.R56C|AURKA_uc010zzd.1_Intron	NM_198433	NP_940835	O14965	AURKA_HUMAN	serine/threonine protein kinase 6	56					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(1)|large_intestine(1)|skin(1)	8			Colorectal(105;0.202)			AAAGGAATGCGCTGGGAAGAA	0.478													A	54961466	G	A	54961466	3	1	94	1	0	0	0	0	1	0	0	0	1221	1087	38	1	1073	1	AURKA	20	54961466	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	137051	54961466	8064054	3404	62537											
BMP7	655	broad.mit.edu	37	chr20	55777645	55777645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctcctccgaggcccagaGggtacggctgtcgagcagga	15	14	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:55777645G>A	uc010gip.1	-	3	1175	c.646C>T	c.(646-648)CTC>TTC	p.L216F	BMP7_uc010giq.1_Missense_Mutation_p.L216F|BMP7_uc002xyc.2_Missense_Mutation_p.L216F	NM_001719	NP_001710	P18075	BMP7_HUMAN	bone morphogenetic protein 7 precursor	216					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			skin(1)	1	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GAGGCCCAGAGGGTACGGCTG	0.622													A	55777645	G	A	55777645	3	1	94	1	0	0	0	0	1	0	0	0	1465	1000	35	4	669	4	BMP7	20	55777645	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	816179	55777645	7247875	3405	62538											
APCDD1L	164284	broad.mit.edu	37	chr20	57042284	57042284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgacgcccggggctgcgGctgcaggcggcgctgcacgc	20	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:57042284G>A	uc002xze.1	-	3	805	c.619C>T	c.(619-621)CCG>TCG	p.P207S	APCDD1L_uc010zzp.1_Missense_Mutation_p.P218S	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated	207						integral to membrane				ovary(1)	1	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CGGGGCTGCGGCTGCAGGCGG	0.746													A	57042284	G	A	57042284	3	1	94	1	0	0	0	0	1	0	0	0	766	1203	42	2	894	2	APCDD1L	20	57042284	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1264639	57042284	5983236	3406	62539											
GNAS	2778	broad.mit.edu	37	chr20	57415808	57415808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaaggaggagaagcagcGgcgtcgctgcaagccaaaga	15	11	0	2	rs142690161		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:57415808G>A	uc002xzt.2	+	1	1014	c.647G>A	c.(646-648)CGG>CAG	p.R216Q	GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	GNAS complex locus NESP55	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GAGAAGCAGCGGCGTCGCTGC	0.647			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			A	57415808	G	A	57415808	3	1	94	1	0	0	0	0	1	0	0	0	6510	1116	39	1	649	1	GNAS	20	57415808	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	373524	57415808	5609712	3407	62540											
GNAS	2778	broad.mit.edu	37	chr20	57485417	57485417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcccggagaggacccacgCgtgacccgggccaagtactt	14	14	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:57485417C>T	uc002xzw.2	+	12	3213	c.2928C>T	c.(2926-2928)CGC>CGT	p.R976R	GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Silent_p.R274R|GNAS_uc002xzx.2_Silent_p.R274R|GNAS_uc010gjr.2_Silent_p.R224R|GNAS_uc002xzy.2_Silent_p.R259R|GNAS_uc002yaa.2_Silent_p.R319R|GNAS_uc010zzt.1_Silent_p.R334R|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Silent_p.R224R|GNAS_uc002yae.2_Silent_p.R258R	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	333					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGGACCCACGCGTGACCCGGG	0.453			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			T	57485417	C	T	57485417	2	4	94	1	0	0	0	0	0	0	0	1	6510	755	27	1		1	GNAS	20	57485417	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	69609	57485417	5540103	3408	62541											
PHACTR3	116154	broad.mit.edu	37	chr20	58348375	58348375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctccagcatgaagagtgccGacccttccctccggggccag	11	17	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:58348375G>A	uc002yau.2	+	6	1260	c.793G>A	c.(793-795)GAC>AAC	p.D265N	PHACTR3_uc002yat.2_Missense_Mutation_p.D262N|PHACTR3_uc010zzw.1_Missense_Mutation_p.D224N|PHACTR3_uc002yav.2_Missense_Mutation_p.D224N|PHACTR3_uc002yaw.2_Missense_Mutation_p.D224N|PHACTR3_uc002yax.2_Missense_Mutation_p.D154N	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	265						nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GAAGAGTGCCGACCCTTCCCT	0.627													A	58348375	G	A	58348375	3	1	94	1	0	0	0	0	1	0	0	0	11811	1058	37	1	815	1	PHACTR3	20	58348375	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	862958	58348375	4677145	3409	62542											
SYCP2	10388	broad.mit.edu	37	chr20	58443592	58443592	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttagattatcttctatataTattcttttgcgactaagatg	5	6	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:58443592T>C	uc002yaz.2	-	37	4003	c.3864A>G	c.(3862-3864)ATA>ATG	p.I1288M		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1288					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTTCTATATATATTCTTTTGC	0.333													C	58443592	T	C	58443592	3	2	94	1	0	0	0	0	1	0	0	0	15429	1396	49	3	760	3	SYCP2	20	58443592	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	95217	58443592	4581928	3410	62543											
CDH4	1002	broad.mit.edu	37	chr20	60485514	60485514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaaaaccgcgtggagaccGtggtcgcaaacctcacggtg	13	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:60485514G>A	uc002ybn.1	+	9	1239	c.1225G>A	c.(1225-1227)GTG>ATG	p.V409M	CDH4_uc002ybp.1_Missense_Mutation_p.V335M	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	409	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGTGGAGACCGTGGTCGCAAA	0.483													A	60485514	G	A	60485514	3	1	94	1	0	0	0	0	1	0	0	0	3112	1145	40	1	1259	1	CDH4	20	60485514	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2041922	60485514	2540006	3411	62544											
HRH3	11255	broad.mit.edu	37	chr20	60791601	60791601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagcggcatggcctcccCgtgccccttctgccagcagc	12	18	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:60791601C>T	uc002ycf.2	-	3	1096	c.799G>A	c.(799-801)GGG>AGG	p.G267R	HRH3_uc002ycg.2_Missense_Mutation_p.G267R|HRH3_uc002ych.2_Missense_Mutation_p.G267R|HRH3_uc002yci.2_Missense_Mutation_p.G267R	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	267	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity				0	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	ATGGCCTCCCCGTGCCCCTTC	0.771													T	60791601	C	T	60791601	3	4	94	1	0	0	0	0	1	0	0	0	7357	652	23	1	542	1	HRH3	20	60791601	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	306087	60791601	2233919	3412	62545											
LAMA5	3911	broad.mit.edu	37	chr20	60902981	60902981	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggcgcagtgcccgcctcgtGacagtcacaggggcggcagc	16	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:60902981G>A	uc002ycq.2	-	36	4805	c.4738C>T	c.(4738-4740)CAC>TAC	p.H1580Y		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1580	Laminin EGF-like 15.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCGCCTCGTGACAGTCACAG	0.687													A	60902981	G	A	60902981	3	1	94	1	0	0	0	0	1	0	0	0	8609	1290	45	4	6529	4	LAMA5	20	60902981	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	111380	60902981	2122539	3413	62546											
GATA5	140628	broad.mit.edu	37	chr20	61048529	61048529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagaggccgcaggcattgCacaggtagtggccggtgccg	18	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:61048529C>T	uc002ycx.1	-	3	691	c.629G>A	c.(628-630)TGC>TAC	p.C210Y		NM_080473	NP_536721	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	210	GATA-type 1.				blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding				0	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			GCAGGCATTGCACAGGTAGTG	0.662													T	61048529	C	T	61048529	3	4	94	1	0	0	0	0	1	0	0	0	6257	710	25	2	584	2	GATA5	20	61048529	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	145548	61048529	1976991	3414	62547											
SLCO4A1	28231	broad.mit.edu	37	chr20	61288032	61288032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgggggacccatgaggtgCggtacgtctcggccgggcag	18	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:61288032C>T	uc002ydb.1	+	2	431	c.226C>T	c.(226-228)CGG>TGG	p.R76W	SLCO4A1_uc002ydc.1_RNA	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family	76	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(1)	1	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CCATGAGGTGCGGTACGTCTC	0.701													T	61288032	C	T	61288032	3	4	94	1	0	0	0	0	1	0	0	0	14729	759	27	1	228	1	SLCO4A1	20	61288032	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	239503	61288032	1737488	3415	62548											
COL20A1	57642	broad.mit.edu	37	chr20	61943276	61943277	+	Frame_Shift_Ins	INS	-	-	C													gtgctttgcagccaccctggINScccccccgagacacctgggc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:61943276_61943277insC	uc011aau.1	+	14	1772_1773	c.1672_1673insC	c.(1672-1674)GCCfs	p.A558fs	COL20A1_uc011aav.1_Frame_Shift_Ins_p.A379fs	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	558	Fibronectin type-III 4.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					AGCCACCCTGGCCCCCCCGAGA	0.693													C	61943277	-	C	61943276	7	5	94	1	0	1	1	0	0	0	0	0	3679	1203	42	0	1722	0	COL20A1	20	61943276	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	655244	61943276	1082244	3416	62549											
COL20A1	57642	broad.mit.edu	37	chr20	61945176	61945176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtcagctggacgccccCgcttggccgcgtgctccatt	13	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:61945176C>T	uc011aau.1	+	18	2391	c.2291C>T	c.(2290-2292)CCG>CTG	p.P764L	COL20A1_uc011aav.1_Missense_Mutation_p.P585L	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	764	Fibronectin type-III 6.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					TGGACGCCCCCGCTTGGCCGC	0.682													T	61945176	C	T	61945176	3	4	94	1	0	0	0	0	1	0	0	0	3679	652	23	1	2357	1	COL20A1	20	61945176	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1900	61945176	1080344	3417	62550											
PRIC285	85441	broad.mit.edu	37	chr20	62196274	62196274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaagctgtactccaggcCgaggatgcggaggccctgct	13	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:62196274C>T	uc002yfm.2	-	9	4793	c.3901G>A	c.(3901-3903)GGC>AGC	p.G1301S	PRIC285_uc002yfl.1_Missense_Mutation_p.G732S	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1301					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TACTCCAGGCCGAGGATGCGG	0.667													T	62196274	C	T	62196274	3	4	94	1	0	0	0	0	1	0	0	0	12485	652	23	1	4096	1	PRIC285	20	62196274	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	251098	62196274	829246	3418	62551											
TNFRSF6B	8771	broad.mit.edu	37	chr20	62328129	62328129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaaggaccatgagggcGctggaggggccaggcctgtc	17	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:62328129G>A	uc002yfy.2	+	5	443	c.9G>A	c.(7-9)GCG>GCA	p.A3A	RTEL1_uc011abd.1_3'UTR|RTEL1_uc011abe.1_3'UTR|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_3'UTR|TNFRSF6B_uc002yfz.2_Silent_p.A3A	NM_032945	NP_116563	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily,	3					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CCATGAGGGCGCTGGAGGGGC	0.697													A	62328129	G	A	62328129	2	1	94	1	0	0	0	0	0	0	0	1	16295	1074	38	1		1	TNFRSF6B	20	62328129	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	131855	62328129	697391	3419	62552											
C20orf135	140701	broad.mit.edu	37	chr20	62493364	62493364	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacgagatcgacactatgttCatggaccgccgccagcaccc	9	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:62493364C>T	uc002ygx.1	+	1	799	c.471C>T	c.(469-471)TTC>TTT	p.F157F		NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN	hypothetical protein LOC140701	157							hydrolase activity				0	all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					ACACTATGTTCATGGACCGCC	0.682													T	62493364	C	T	62493364	2	4	94	1	0	0	0	0	0	0	0	1	2088	825	29	4		4	C20orf135	20	62493364	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	165235	62493364	532156	3420	62553											
UCKL1	54963	broad.mit.edu	37	chr20	62575950	62575950	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgggctggatgtactggtcGaaggagggcttgacaaactt	16	6	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:62575950G>A	uc010gkn.2	-	6	835	c.792C>T	c.(790-792)TTC>TTT	p.F264F	UCKL1_uc002yhj.2_5'Flank|UCKL1_uc011abm.1_Silent_p.F249F|UCKL1_uc011abn.1_RNA|UCKL1_uc011abo.1_RNA|MIR647_hsa-mir-647|MI0003662_5'Flank	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	264					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGTACTGGTCGAAGGAGGGCT	0.642													A	62575950	G	A	62575950	2	1	94	1	0	0	0	0	0	0	0	1	16922	1049	37	1		1	UCKL1	20	62575950	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	82586	62575950	449570	3421	62554											
NPBWR2	2832	broad.mit.edu	37	chr20	62737941	62737941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggttcaggatgaacaCgttggtcaccgtcttcatct	11	11	5	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:62737941C>T	uc011abt.1	-	1	244	c.244G>A	c.(244-246)GTG>ATG	p.V82M		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	82	Helical; Name=2; (Potential).					plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					AGGATGAACACGTTGGTCACC	0.627													T	62737941	C	T	62737941	3	4	94	1	0	0	0	0	1	0	0	0	10569	536	19	1	760	1	NPBWR2	20	62737941	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	161991	62737941	287579	3422	62555											
NRIP1	8204	broad.mit.edu	37	chr21	16339964	16339964	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttcaacaaagtttttaagtGacttgatgcaacaccatagc	6	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:16339964G>A	uc002yjx.2	-	4	1148	c.550C>T	c.(550-552)CAC>TAC	p.H184Y		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	184	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GTTTTTAAGTGACTTGATGCA	0.383													A	16339964	G	A	16339964	3	1	94	1	0	0	0	0	1	0	0	0	10652	1290	45	4	2930	4	NRIP1	21	16339964	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08		16339964	31789931	3423	62556											
BTG3	10950	broad.mit.edu	37	chr21	18981391	18981391	+	Frame_Shift_Del	DEL	T	T	-													gcaaacctctcaactgcctcTtttttcaacttatcatgttt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:18981391delT	uc002ykk.2	-	2	332	c.72delA	c.(70-72)AAAfs	p.K24fs	BTG3_uc002ykl.2_Frame_Shift_Del_p.K24fs	NM_006806	NP_006797	Q14201	BTG3_HUMAN	B-cell translocation gene 3 isoform b	24					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm					0				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		CAACTGCCTCTTTTTTCAACT	0.353													-	18981391	T	-	18981391	7	5	94	1	0	1	0	1	0	0	0	0	1555	1606	56	0	838	0	BTG3	21	18981391	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	2641427	18981391	29148504	3424	62557											
APP	351	broad.mit.edu	37	chr21	27394182	27394183	+	In_Frame_Ins	INS	-	-	GTG													cacctcttccacagactctgINStggtggtggtggtggtggtg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:27394181_27394182T>TGTG	uc002ylz.3	-	5	1039_1040	c.839_840A>CACA	c.(838-840)aca>aCACA	p.T280T	APP_uc010glk.3_In_Frame_Ins_p.T275T|APP_uc002yma.3_In_Frame_Ins_p.T280T|APP_uc011ach.2_In_Frame_Ins_p.T224T|APP_uc021whz.1_In_Frame_Ins_p.T280T|APP_uc021wia.1_In_Frame_Ins_p.T280T|APP_uc002ymb.3_In_Frame_Ins_p.T280T|APP_uc010glj.3_In_Frame_Ins_p.T224T|APP_uc021wib.1_In_Frame_Ins_p.T280T|APP_uc011aci.2_In_Frame_Ins_p.T245T|APP_uc011acj.2_In_Frame_Ins_p.T280T	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	280	Poly-Thr.				G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CCACAGACTCTgtggtggtggt	0.525													GTG	27394183	-	GTG	27394182	7	5	94	1	0	1	1	0	0	0	0	0	815	1377	48	0	1525	0	APP	21	27394182	In_Frame_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	8412791	27394182	20735713	3425	62558											
ADAMTS1	9510	broad.mit.edu	37	chr21	28217144	28217144	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtgcgtccgacacggccaGtagcgccgcggcgagcagca	16	14	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:28217144G>T	uc002ymf.2	-	1	585	c.130C>A	c.(130-132)CTG>ATG	p.L44M		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	44					integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		GACACGGCCAGTAGCGCCGCG	0.736											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	28217144	G	T	28217144	3	4	94	1	0	0	0	0	1	0	0	0	255	1020	36	5	2809	5	ADAMTS1	21	28217144	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	822962	28217144	19912751	3426	62559											
KRTAP19-2	337969	broad.mit.edu	37	chr21	31859629	31859629	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagccatagcccagtctGcagaagctgccacatccaca	8	17	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:31859629G>A	uc011acy.1	-	1	39	c.39C>T	c.(37-39)TGC>TGT	p.C13C		NM_181608	NP_853639	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	13						intermediate filament					0						AGCCCAGTCTGCAGAAGCTGC	0.562													A	31859629	G	A	31859629	2	1	94	1	0	0	0	0	0	0	0	1	8529	1311	46	2		2	KRTAP19-2	21	31859629	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3642485	31859629	16270266	3427	62560											
TIAM1	7074	broad.mit.edu	37	chr21	32526612	32526612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctcgcagatcaccttgcGcagcttatctgcatccgaga	10	13	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:32526612G>A	uc002yow.1	-	18	3596	c.3124C>T	c.(3124-3126)CGC>TGC	p.R1042C	TIAM1_uc011adk.1_Missense_Mutation_p.R1042C|TIAM1_uc011adl.1_Missense_Mutation_p.R982C	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1042	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						ATCACCTTGCGCAGCTTATCT	0.567													A	32526612	G	A	32526612	3	1	94	1	0	0	0	0	1	0	0	0	15887	1087	38	1	1699	1	TIAM1	21	32526612	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	666983	32526612	15603283	3428	62561											
SFRS15	57466	broad.mit.edu	37	chr21	33068890	33068890	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaaactaacaatggtgcCtgtggaggaggaggagaggc	15	5	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:33068890C>A	uc002ypd.2	-	8	1377	c.951G>T	c.(949-951)CAG>CAT	p.Q317H	SFRS15_uc002ype.2_Missense_Mutation_p.Q317H|SFRS15_uc010glu.2_Missense_Mutation_p.Q302H|SFRS15_uc002ypf.1_Translation_Start_Site	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	317						nucleus	nucleotide binding|RNA binding				0						ACAATGGTGCCTGTGGAGGAG	0.507													A	33068890	C	A	33068890	3	1	94	1	0	0	0	0	1	0	0	0	14171	680	24	5	2544	5	SFRS15	21	33068890	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	542278	33068890	15061005	3429	62562											
ITSN1	6453	broad.mit.edu	37	chr21	35195847	35195847	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagatttaacctttcagCaaggggatgtgattttggtt	12	4	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:35195847C>T	uc002yta.1	+	25	3341	c.3073C>T	c.(3073-3075)CAA>TAA	p.Q1025*	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_Intron|ITSN1_uc002ysz.2_Intron|ITSN1_uc010gmg.2_Intron|ITSN1_uc010gmh.2_Intron|ITSN1_uc002ysw.2_Nonsense_Mutation_p.Q1025*|ITSN1_uc010gmi.2_Nonsense_Mutation_p.Q988*|ITSN1_uc010gmj.2_Nonsense_Mutation_p.Q904*|ITSN1_uc002ysy.2_Nonsense_Mutation_p.Q1020*|ITSN1_uc002ysx.2_Nonsense_Mutation_p.Q983*|ITSN1_uc002ytb.1_Nonsense_Mutation_p.Q1020*|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Intron|ITSN1_uc010gml.2_Intron|ITSN1_uc002ytj.2_Nonsense_Mutation_p.Q1020*|ITSN1_uc010gmm.1_Intron|ITSN1_uc002yte.2_Intron|ITSN1_uc002ytg.1_Intron	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	1025	SH3 3.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						AACCTTTCAGCAAGGGGATGT	0.448													T	35195847	C	T	35195847	4	4	94	1	0	0	0	0	0	1	0	0	7926	711	25	2	3167	2	ITSN1	21	35195847	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2126957	35195847	12934048	3430	62563											
ITSN1	6453	broad.mit.edu	37	chr21	35237536	35237536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctgagcgcacagctgccGcacatgcagccctacatccg	9	17	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:35237536G>A	uc002yta.1	+	32	4240	c.3972G>A	c.(3970-3972)CCG>CCA	p.P1324P	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Silent_p.P1319P|ITSN1_uc002ytj.2_Silent_p.P1319P|ITSN1_uc010gmm.1_RNA	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	1324	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						CACAGCTGCCGCACATGCAGC	0.597													A	35237536	G	A	35237536	2	1	94	1	0	0	0	0	0	0	0	1	7926	1074	38	1		1	ITSN1	21	35237536	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	41689	35237536	12892359	3431	62564											
SETD4	54093	broad.mit.edu	37	chr21	37417937	37417937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcgagtgcacaggtgtcCggctctgcagaaaggcattc	15	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:37417937C>T	uc002yuw.1	-	5	2042	c.669G>A	c.(667-669)CCG>CCA	p.P223P	SETD4_uc002yux.1_Silent_p.P199P|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Silent_p.P223P|SETD4_uc002yuy.2_Silent_p.P223P|SETD4_uc002yuz.2_Silent_p.P199P|SETD4_uc002yva.2_Silent_p.P199P	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	SET domain containing 4 isoform a	223	SET.									large_intestine(1)|ovary(1)	2						CACAGGTGTCCGGCTCTGCAG	0.572													T	37417937	C	T	37417937	2	4	94	1	0	0	0	0	0	0	0	1	14133	639	23	1		1	SETD4	21	37417937	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2180401	37417937	10711958	3432	62565											
DOPEY2	9980	broad.mit.edu	37	chr21	37586451	37586452	+	Frame_Shift_Ins	INS	-	-	T													tatgaagaccagtcgtcttaINStttttttgaaaaatactcca					rs147590869	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:37586451_37586452insT	uc002yvg.2	+	8	1056_1057	c.977_978insT	c.(976-978)TATfs	p.Y326fs	DOPEY2_uc011aeb.1_Frame_Shift_Ins_p.Y326fs	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	326					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						CAGTCGTCTTATTTTTTTGAAA	0.396													T	37586452	-	T	37586451	7	5	94	1	0	1	1	0	0	0	0	0	4708	449	16	0	1003	0	DOPEY2	21	37586451	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	168514	37586451	10543444	3433	62566	300	2									
DOPEY2	9980	broad.mit.edu	37	chr21	37586452	37586453	+	Frame_Shift_Ins	INS	-	-	T													atgaagaccagtcgtcttatINSttttttgaaaaatactccaa					rs147590869	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:37586451_37586452A>AT	uc002yvg.3	+	7	1056_1057	c.977_978A>AT	c.(976-978)tatfs	p.Y326fs	DOPEY2_uc011aeb.2_Frame_Shift_Ins_p.Y326fs	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	326					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGTCGTCTTATTTTTTTGAAA	0.396													T	37586453	-	T	37586452	7	5	94	1	0	1	1	0	0	0	0	0	4708	1500	52	0	1004	0	DOPEY2	21	37586452	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	37586452	10543443	3434	62567	300	2									
DOPEY2	9980	broad.mit.edu	37	chr21	37623582	37623582	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgtcacagtaagatgaaGgtaaagtttaaaaagttaca	9	5	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:37623582G>A	uc002yvg.2	+	22	5200	c.5121G>A	c.(5119-5121)AAG>AAA	p.K1707K	DOPEY2_uc011aeb.1_Silent_p.K1656K|DOPEY2_uc002yvh.2_Silent_p.K558K	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1707					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						GTAAGATGAAGGTAAAGTTTA	0.458													A	37623582	G	A	37623582	2	1	94	1	0	0	0	0	0	0	0	1	4708	1014	35	4		4	DOPEY2	21	37623582	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	37130	37623582	10506313	3435	62568											
MORC3	23515	broad.mit.edu	37	chr21	37728931	37728931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaagacttacaataacaGcactaggagaaaagctgaat	7	6	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:37728931G>A	uc002yvi.2	+	10	1193	c.1117G>A	c.(1117-1119)GCA>ACA	p.A373T		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	373					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						TACAATAACAGCACTAGGAGA	0.274													A	37728931	G	A	37728931	3	1	94	1	0	0	0	0	1	0	0	0	9703	971	34	2	1155	2	MORC3	21	37728931	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	105349	37728931	10400964	3436	62569											
MORC3	23515	broad.mit.edu	37	chr21	37732303	37732303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgcctgtctaaagtggcGgaaattacctgatgggatgg	14	6	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:37732303G>A	uc002yvi.2	+	11	1335	c.1259G>A	c.(1258-1260)CGG>CAG	p.R420Q		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	420	CW-type.				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						CTAAAGTGGCGGAAATTACCT	0.418													A	37732303	G	A	37732303	3	1	94	1	0	0	0	0	1	0	0	0	9703	1116	39	1	1301	1	MORC3	21	37732303	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3372	37732303	10397592	3437	62570											
DSCR3	10311	broad.mit.edu	37	chr21	38610871	38610871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgctgggaaatttccccgGcttcaccatttctatggtgc	10	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:38610871G>A	uc002ywf.1	-	4	480	c.241C>T	c.(241-243)CCG>TCG	p.P81S	DSCR3_uc010gnm.1_RNA|DSCR3_uc010gnn.1_Missense_Mutation_p.P39S|DSCR3_uc010gnl.2_Missense_Mutation_p.P81S|DSCR3_uc011aeg.1_Intron|DSCR3_uc011aeh.1_Intron	NM_006052	NP_006043	O14972	DSCR3_HUMAN	Down syndrome critical region protein 3	81					vacuolar transport	nucleus|retromer complex					0						AATTTCCCCGGCTTCACCATT	0.418													A	38610871	G	A	38610871	3	1	94	1	0	0	0	0	1	0	0	0	4771	1203	42	2	676	2	DSCR3	21	38610871	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	878568	38610871	9519024	3438	62571											
DYRK1A	1859	broad.mit.edu	37	chr21	38853059	38853060	+	Frame_Shift_Ins	INS	-	-	A													ataactatgattatattgtaINSaaaaacggagaaaagtggat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:38853058_38853059T>TA	uc002ywk.3	+	3	522_523	c.446_447T>TA	c.(445-447)gtafs	p.V149fs	DYRK1A_uc002ywh.1_Frame_Shift_Ins_p.V111fs|DYRK1A_uc002ywi.3_Frame_Shift_Ins_p.V149fs|DYRK1A_uc002ywj.3_Frame_Shift_Ins_p.V140fs|DYRK1A_uc002ywm.3_Frame_Shift_Ins_p.V149fs	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	149					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GATTATATTGTAAAAAACGGAG	0.376													A	38853060	-	A	38853059	7	5	94	1	0	1	1	0	0	0	0	0	4854	349	13	0	461	0	DYRK1A	21	38853059	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	242188	38853059	9276836	3439	62572											
KCNJ6	3763	broad.mit.edu	37	chr21	39086717	39086717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgggatgaactccccctccGaggtctgtttggatttgatc	11	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:39086717G>A	uc011aej.1	-	3	796	c.743C>T	c.(742-744)TCG>TTG	p.S248L	KCNJ6_uc002ywo.2_Missense_Mutation_p.S248L	NM_002240	NP_002231	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel J6	248	Cytoplasmic (By similarity).				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1					Halothane(DB01159)	CTCCCCCTCCGAGGTCTGTTT	0.517													A	39086717	G	A	39086717	3	1	94	1	0	0	0	0	1	0	0	0	8055	1059	37	1	536	1	KCNJ6	21	39086717	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	233658	39086717	9043178	3440	62573											
KCNJ6	3763	broad.mit.edu	37	chr21	39087187	39087187	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgacaaaaatcaataggttGaatctccacttcaggtccac	6	10	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:39087187G>A	uc011aej.1	-	3	326	c.273C>T	c.(271-273)TTC>TTT	p.F91F	KCNJ6_uc002ywo.2_Silent_p.F91F	NM_002240	NP_002231	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel J6	91	Helical; Name=M1; (By similarity).				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1					Halothane(DB01159)	TCAATAGGTTGAATCTCCACT	0.463													A	39087187	G	A	39087187	2	1	94	1	0	0	0	0	0	0	0	1	8055	1281	45	4		4	KCNJ6	21	39087187	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	470	39087187	9042708	3441	62574											
DSCAM	1826	broad.mit.edu	37	chr21	41416137	41416137	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggggtggggtcggttgagggTccactggctggcatagcggt	21	7	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:41416137T>A	uc002yyq.1	-	31	5703	c.5251A>T	c.(5251-5253)ACC>TCC	p.T1751S	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1751	Cytoplasmic (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGGTTGAGGGTCCACTGGCTG	0.587													A	41416137	T	A	41416137	3	1	94	1	0	0	0	0	1	0	0	0	4768	1667	58	5	799	5	DSCAM	21	41416137	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2328950	41416137	6713758	3442	62575											
DSCAM	1826	broad.mit.edu	37	chr21	41514615	41514615	+	Frame_Shift_Del	DEL	G	G	-													gctatggcttggacattttcGggggggtaactgggcactga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:41514614_41514614CG>C	uc002yyq.1	-	17	3729	c.3277_3277CG>G	c.(3277-3279)gaafs	p.E1093fs	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1093	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAA	0.408													-	41514615	G	-	41514615	7	5	94	1	0	1	0	1	0	0	0	0	4768	1103	39	0	2826	0	DSCAM	21	41514615	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	98478	41514615	6615280	3443	62576											
MX2	4600	broad.mit.edu	37	chr21	42780117	42780117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttaccggctcactcaggCgcgacacgcactctgtcaat	8	14	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:42780117C>T	uc002yzf.1	+	14	2209	c.2105C>T	c.(2104-2106)GCG>GTG	p.A702V	MX2_uc002yzg.1_Missense_Mutation_p.A425V|MX2_uc010gop.1_Missense_Mutation_p.A184V	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	702	GED.				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CTCACTCAGGCGCGACACGCA	0.493													T	42780117	C	T	42780117	3	4	94	1	0	0	0	0	1	0	0	0	9998	768	27	1	2155	1	MX2	21	42780117	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1265502	42780117	5349778	3444	62577											
PRDM15	63977	broad.mit.edu	37	chr21	43230570	43230570	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtggacaccttggtcccGcacagctggcagctctgcgc	13	15	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:43230570G>A	uc002yzq.1	-	28	3801	c.3690C>T	c.(3688-3690)TGC>TGT	p.C1230C	PRDM15_uc002yzo.2_Silent_p.C901C|PRDM15_uc002yzp.2_Silent_p.C921C|PRDM15_uc002yzr.1_Silent_p.C921C	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	1230	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCTTGGTCCCGCACAGCTGGC	0.657													A	43230570	G	A	43230570	2	1	94	1	0	0	0	0	0	0	0	1	12456	1079	38	1		1	PRDM15	21	43230570	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	450453	43230570	4899325	3445	62578											
C2CD2	25966	broad.mit.edu	37	chr21	43319229	43319229	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgacagctcatcaccgtcGgggtccagcaggacctggct	12	14	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:43319229G>A	uc002yzw.2	-	13	2045	c.1803C>T	c.(1801-1803)CCC>CCT	p.P601P	C2CD2_uc002yzs.2_Silent_p.P70P|C2CD2_uc002yzt.2_Silent_p.P217P|C2CD2_uc002yzu.2_Silent_p.P433P|C2CD2_uc002yzv.2_Silent_p.P446P	NM_015500	NP_056315	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2 isoform	601						cytosol|extracellular region|nucleus				ovary(1)	1						CATCACCGTCGGGGTCCAGCA	0.647													A	43319229	G	A	43319229	2	1	94	1	0	0	0	0	0	0	0	1	2152	1103	39	1		1	C2CD2	21	43319229	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	88659	43319229	4810666	3446	62579											
RSPH1	89765	broad.mit.edu	37	chr21	43897403	43897403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgggggtgccccacactcTcagctcctggagcgtcttgg	13	16	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:43897403T>C	uc002zbg.2	-	7	830	c.725A>G	c.(724-726)GAG>GGG	p.E242G		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	testis-specific gene A2	242					meiosis	cytosol|nucleus				ovary(1)	1						CCCCACACTCTCAGCTCCTGG	0.657													C	43897403	T	C	43897403	3	2	94	1	0	0	0	0	1	0	0	0	13702	1551	54	3	216	3	RSPH1	21	43897403	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	578174	43897403	4232492	3447	62580											
HSF2BP	11077	broad.mit.edu	37	chr21	45033778	45033778	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caatatggtgtccaagagcaCccggcttgaattaaccaaga	9	10	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:45033778C>G	uc002zdi.2	-	7	957	c.625G>C	c.(625-627)GTG>CTG	p.V209L	HSF2BP_uc011aey.1_Missense_Mutation_p.V134L	NM_007031	NP_008962	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding	209					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.18)		TCCAAGAGCACCCGGCTTGAA	0.398													G	45033778	C	G	45033778	3	3	94	1	0	0	0	0	1	0	0	0	7397	507	18	5	391	5	HSF2BP	21	45033778	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1136375	45033778	3096117	3448	62581											
TRAPPC10	7109	broad.mit.edu	37	chr21	45499951	45499951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacctcactgaagaggagCgcaagcacttctgccaggag	11	13	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:45499951C>T	uc002zea.2	+	13	1835	c.1666C>T	c.(1666-1668)CGC>TGC	p.R556C	TRAPPC10_uc010gpo.2_Missense_Mutation_p.R267C|TRAPPC10_uc011afa.1_5'Flank	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	556					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						TGAAGAGGAGCGCAAGCACTT	0.522													T	45499951	C	T	45499951	3	4	94	1	0	0	0	0	1	0	0	0	16454	768	27	1	1716	1	TRAPPC10	21	45499951	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	466173	45499951	2629944	3449	62582											
PFKL	5211	broad.mit.edu	37	chr21	45744439	45744439	+	Frame_Shift_Del	DEL	G	G	-													gtgttcatcgtggagaccatGgggggttactgtggctacct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:45744439delG	uc002zel.2	+	17	1775	c.1716delG	c.(1714-1716)ATGfs	p.M572fs	PFKL_uc002zek.2_Frame_Shift_Del_p.M619fs|PFKL_uc002zem.2_Frame_Shift_Del_p.M159fs|PFKL_uc002zen.2_Frame_Shift_Del_p.M159fs	NM_002626	NP_002617	P17858	K6PL_HUMAN	liver phosphofructokinase	572					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding				0				Colorectal(79;0.0811)		TGGAGACCATGGGGGGTTACT	0.627													-	45744439	G	-	45744439	7	5	94	1	0	1	0	1	0	0	0	0	11764	1348	47	0	1782	0	PFKL	21	45744439	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	244488	45744439	2385456	3450	62583											
TRPM2	7226	broad.mit.edu	37	chr21	45826499	45826499	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggacgtcttcttcttccTcttcctgctggctgtgtggg	12	11	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:45826499T>G	uc002zet.1	+	20	3026	c.2813T>G	c.(2812-2814)CTC>CGC	p.L938R	TRPM2_uc002zeu.1_Missense_Mutation_p.L938R|TRPM2_uc002zew.1_Missense_Mutation_p.L938R|TRPM2_uc010gpt.1_Missense_Mutation_p.L938R|TRPM2_uc002zex.1_Missense_Mutation_p.L724R|TRPM2_uc002zey.1_Missense_Mutation_p.L451R	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	938	Helical; (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TTCTTCTTCCTCTTCCTGCTG	0.647													G	45826499	T	G	45826499	3	3	94	1	0	0	0	0	1	0	0	0	16583	1551	54	5	2887	5	TRPM2	21	45826499	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	82060	45826499	2303396	3451	62584											
TRPM2	7226	broad.mit.edu	37	chr21	45846948	45846948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggatggcctgagggacCgccggagcttccacgggccg	18	12	0	1	rs144290883		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:45846948C>T	uc002zet.1	+	28	4141	c.3928C>T	c.(3928-3930)CGC>TGC	p.R1310C	TRPM2_uc002zeu.1_Missense_Mutation_p.R1310C|TRPM2_uc002zew.1_Missense_Mutation_p.R1310C|TRPM2_uc010gpt.1_Missense_Mutation_p.R1360C|TRPM2_uc002zex.1_Missense_Mutation_p.R1096C|TRPM2_uc002zey.1_Intron|uc011afe.1_5'Flank|TRPM2_uc011aff.1_Intron	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	1310	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CCTGAGGGACCGCCGGAGCTT	0.677													T	45846948	C	T	45846948	3	4	94	1	0	0	0	0	1	0	0	0	16583	652	23	1	4034	1	TRPM2	21	45846948	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	20449	45846948	2282947	3452	62585											
LRRC3	81543	broad.mit.edu	37	chr21	45876898	45876898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggacctgtcttacaaccGcatccagaggatccccaagg	10	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:45876898G>A	uc002zfa.2	+	2	664	c.371G>A	c.(370-372)CGC>CAC	p.R124H		NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	leucine-rich repeat-containing 3 precursor	124	LRR 3.					integral to membrane	protein binding				0		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCTTACAACCGCATCCAGAGG	0.672													A	45876898	G	A	45876898	3	1	94	1	0	0	0	0	1	0	0	0	8984	1087	38	1	373	1	LRRC3	21	45876898	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	29950	45876898	2252997	3453	62586											
C21orf29	54084	broad.mit.edu	37	chr21	45919682	45919682	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcagcgtgtcctcagcCgcaggaccctggagaggggc	16	14	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:45919682C>A	uc002zfe.1	-	12	2060	c.1994G>T	c.(1993-1995)CGG>CTG	p.R665L	C21orf29_uc010gpv.1_Missense_Mutation_p.R597L	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	665	EAR 7.				cell adhesion	extracellular region	structural molecule activity				0						TGTCCTCAGCCGCAGGACCCT	0.706													A	45919682	C	A	45919682	3	1	94	1	0	0	0	0	1	0	0	0	2124	652	23	5	19	5	C21orf29	21	45919682	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	42784	45919682	2210213	3454	62587											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047642	46047642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagtcctactgtgtgcCtgtctgctgtaagcctgtct	10	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:46047642C>A	uc002zfp.3	+	1	603	c.554C>A	c.(553-555)CCT>CAT	p.P185H	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	keratin associated protein 10-9	185	17.|25 X 5 AA repeats of C-C-X(3).					keratin filament					0						TACTGTGTGCCTGTCTGCTGT	0.602													A	46047642	C	A	46047642	3	1	94	1	0	0	0	0	1	0	0	0	8516	681	24	5	556	5	KRTAP10-9	21	46047642	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	127960	46047642	2082253	3455	62588											
ADARB1	104	broad.mit.edu	37	chr21	46604910	46604910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatagagtctggtgaggggaCgattccagtgcgctccaatg	14	8	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:46604910C>T	uc002zgy.2	+	9	2024	c.1589C>T	c.(1588-1590)ACG>ATG	p.T530M	ADARB1_uc002zgr.2_Missense_Mutation_p.T530M|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.T490M|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.T490M|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	530	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		GGTGAGGGGACGATTCCAGTG	0.522													T	46604910	C	T	46604910	3	4	94	1	0	0	0	0	1	0	0	0	282	536	19	1	1615	1	ADARB1	21	46604910	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	557268	46604910	1524985	3456	62589											
SLC19A1	6573	broad.mit.edu	37	chr21	46951974	46951974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagcagcagcaccggcGtgtagcgcaggtagtcggtg	16	12	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:46951974G>A	uc002zhl.1	-	3	397	c.278C>T	c.(277-279)ACG>ATG	p.T93M	SLC19A1_uc010gpy.1_Missense_Mutation_p.T93M|SLC19A1_uc011aft.1_Missense_Mutation_p.T53M|SLC19A1_uc002zhm.1_Missense_Mutation_p.T93M|SLC19A1_uc010gpz.1_Translation_Start_Site	NM_194255	NP_919231	P41440	S19A1_HUMAN	solute carrier family 19 member 1	93	Cytoplasmic (Probable).				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity				0				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CAGCACCGGCGTGTAGCGCAG	0.652													A	46951974	G	A	46951974	3	1	94	1	0	0	0	0	1	0	0	0	14428	1145	40	1	1513	1	SLC19A1	21	46951974	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	347064	46951974	1177921	3457	62590											
MCM3AP	8888	broad.mit.edu	37	chr21	47684123	47684123	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgagctcgtccaccacctgCgccaggtcctgtggagagac	12	14	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:47684123C>A	uc002zir.1	-	13	3279	c.3243G>T	c.(3241-3243)GCG>GCT	p.A1081A	MCM3AP_uc002ziq.1_Silent_p.A8A	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	1081					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					CCACCACCTGCGCCAGGTCCT	0.632													A	47684123	C	A	47684123	2	1	94	1	0	0	0	0	0	0	0	1	9388	755	27	5		5	MCM3AP	21	47684123	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	732149	47684123	445772	3458	62591											
PCNT	5116	broad.mit.edu	37	chr21	47754606	47754606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgggatgttcacagtcaGtgaccacacaccagaacagc	11	12	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:47754606G>A	uc002zji.3	+	3	670	c.563G>A	c.(562-564)AGT>AAT	p.S188N	PCNT_uc002zjj.2_Missense_Mutation_p.S70N|PCNT_uc010gqk.1_RNA	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	188					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					TTCACAGTCAGTGACCACACA	0.507													A	47754606	G	A	47754606	3	1	94	1	0	0	0	0	1	0	0	0	11590	1029	36	4	573	4	PCNT	21	47754606	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	70483	47754606	375289	3459	62592											
PCNT	5116	broad.mit.edu	37	chr21	47832851	47832851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgccagaggcagctgcagtCggagctgctcttggtgaaaa	14	10	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:47832851C>T	uc002zji.3	+	29	6202	c.6095C>T	c.(6094-6096)TCG>TTG	p.S2032L	PCNT_uc002zjj.2_Missense_Mutation_p.S1914L	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2032					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					CAGCTGCAGTCGGAGCTGCTC	0.622													T	47832851	C	T	47832851	3	4	94	1	0	0	0	0	1	0	0	0	11590	893	31	1	6209	1	PCNT	21	47832851	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	78245	47832851	297044	3460	62593											
CCT8L2	150160	broad.mit.edu	37	chr22	17072817	17072817	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcctccagtgtccccccgggCagcgcgcacaccccaacacg	9	21	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:17072817C>G	uc002zlp.1	-	1	884	c.624G>C	c.(622-624)CTG>CTC	p.L208L		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	208					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCCCCCCGGGCAGCGCGCACA	0.622													G	17072817	C	G	17072817	2	3	94	1	0	0	0	0	0	0	0	1	2961	697	25	5		5	CCT8L2	22	17072817	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08		17072817	34231749	3461	62594											
CECR6	27439	broad.mit.edu	37	chr22	17601013	17601013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgatgaggtctaggatggaCgtgcccaggatcagcaccac	13	11	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:17601013C>T	uc002zmb.2	-	1	1201	c.1005G>A	c.(1003-1005)ACG>ACA	p.T335T	CECR6_uc002zma.2_5'UTR|uc002zmc.2_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	335											0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		CTAGGATGGACGTGCCCAGGA	0.572													T	17601013	C	T	17601013	2	4	94	1	0	0	0	0	0	0	0	1	3208	523	19	1		1	CECR6	22	17601013	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	528196	17601013	33703553	3462	62595											
CECR5	27440	broad.mit.edu	37	chr22	17619093	17619093	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcctgggattgtagacgcCtgtacacaccaggatggaga	13	9	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:17619093C>A	uc002zmf.2	-	8	1118	c.1090G>T	c.(1090-1092)GGC>TGC	p.G364C	CECR5_uc002zmd.2_Missense_Mutation_p.G175C|CECR5_uc002zme.2_Missense_Mutation_p.G156C|CECR5_uc002zmg.2_Missense_Mutation_p.G164C|CECR5_uc002zmh.2_Missense_Mutation_p.G334C	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	364							hydrolase activity				0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				TTGTAGACGCCTGTACACACC	0.622													A	17619093	C	A	17619093	3	1	94	1	0	0	0	0	1	0	0	0	3207	681	24	5	185	5	CECR5	22	17619093	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	18080	17619093	33685473	3463	62596											
CECR1	51816	broad.mit.edu	37	chr22	17670868	17670868	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaccgtggggaacttgatTcggagccccatggccattcg	12	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:17670868T>C	uc002zmk.1	-	5	1148	c.936A>G	c.(934-936)CGA>CGG	p.R312R	CECR1_uc010gqu.1_Silent_p.R312R|CECR1_uc011agi.1_Silent_p.R270R|CECR1_uc011agj.1_3'UTR|CECR1_uc002zmj.1_Silent_p.R71R	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	cat eye syndrome critical region protein 1	312					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			ovary(1)	1		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GGAACTTGATTCGGAGCCCCA	0.572													C	17670868	T	C	17670868	2	2	94	1	0	0	0	0	0	0	0	1	3205	1770	62	3		3	CECR1	22	17670868	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	51775	17670868	33633698	3464	62597											
CECR2	27443	broad.mit.edu	37	chr22	18028863	18028863	+	Frame_Shift_Del	DEL	T	T	-													ggccagagagtcccaaagaaTttttagacctggacaaccat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:18028863delT	uc010gqw.1	+	16	3946	c.3820delT	c.(3820-3822)TTTfs	p.F1274fs	CECR2_uc010gqv.1_Frame_Shift_Del_p.F1132fs|CECR2_uc002zml.2_Frame_Shift_Del_p.F1133fs|CECR2_uc002zmo.2_RNA	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1316					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		TCCCAAAGAATTTTTAGACCT	0.517													-	18028863	T	-	18028863	7	5	94	1	0	1	0	1	0	0	0	0	3206	1493	52	0	3884	0	CECR2	22	18028863	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	357995	18028863	33275703	3465	62598											
BCL2L13	23786	broad.mit.edu	37	chr22	18209583	18209583	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaactgtgaccacttcctgGcagtctgagagcttacctgt	9	13	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:18209583G>A	uc002zmw.2	+	7	959	c.741G>A	c.(739-741)TGG>TGA	p.W247*	BCL2L13_uc002zmx.2_Nonsense_Mutation_p.W85*|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Nonsense_Mutation_p.W85*|BCL2L13_uc011agk.1_Nonsense_Mutation_p.W123*|BCL2L13_uc010gqz.2_5'UTR|BCL2L13_uc002zmz.2_Nonsense_Mutation_p.W85*|BCL2L13_uc002zna.2_5'UTR	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	247	A.				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)		CCACTTCCTGGCAGTCTGAGA	0.532													A	18209583	G	A	18209583	4	1	94	1	0	0	0	0	0	1	0	0	1371	1212	42	2	763	2	BCL2L13	22	18209583	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	180720	18209583	33094983	3466	62599											
MICAL3	57553	broad.mit.edu	37	chr22	18310435	18310435	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcagaggactcagaggcCggcgccatcctctcttcctc	11	15	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:18310435C>T	uc002zng.3	-	22	3521	c.3168G>A	c.(3166-3168)CCG>CCA	p.P1056P	MICAL3_uc011agl.1_Intron	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1056	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		ACTCAGAGGCCGGCGCCATCC	0.662													T	18310435	C	T	18310435	2	4	94	1	0	0	0	0	0	0	0	1	9571	639	23	1		1	MICAL3	22	18310435	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	100852	18310435	32994131	3467	62600											
DGCR6	8214	broad.mit.edu	37	chr22	18893922	18893922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgccttggaggaggtggCggacggtgcccggcagcagg	22	10	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:18893922C>T	uc002zoh.3	+	1	187	c.35C>T	c.(34-36)GCG>GTG	p.A12V	DGCR6_uc002zog.2_Intron|DGCR6_uc002zoi.3_RNA	NM_005675	NP_005666	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region protein 6	12				MERYAGALEEVA -> PKGAKAGYQPRG (in Ref. 3).	cell adhesion|organ morphogenesis	nucleus|proteinaceous extracellular matrix				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						GAGGAGGTGGCGGACGGTGCC	0.632													T	18893922	C	T	18893922	3	4	94	1	0	0	0	0	1	0	0	0	4462	768	27	1	37	1	DGCR6	22	18893922	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	583487	18893922	32410644	3468	62601											
C22orf29	79680	broad.mit.edu	37	chr22	19839687	19839687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatgccaccccaggagacGccttgtccatctgctgccat	9	15	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:19839687G>A	uc002zqg.2	-	2	697	c.98C>T	c.(97-99)GCG>GTG	p.A33V	GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Missense_Mutation_p.A33V|C22orf29_uc002zqi.2_Missense_Mutation_p.A33V|C22orf29_uc010grt.1_Intron	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	hypothetical protein LOC79680	33											0	Colorectal(54;0.0993)					CCCAGGAGACGCCTTGTCCAT	0.632													A	19839687	G	A	19839687	3	1	94	1	0	0	0	0	1	0	0	0	2141	1087	38	1	1000	1	C22orf29	22	19839687	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	945765	19839687	31464879	3469	62602											
KLHL22	84861	broad.mit.edu	37	chr22	20796663	20796663	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcaatgccaggctcaccGtgcccagcagggagtgggca	14	13	1	0	rs142035823		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:20796663G>A	uc002zsl.1	-	7	1711	c.1602C>T	c.(1600-1602)CAC>CAT	p.H534H	KLHL22_uc011ahr.1_Silent_p.H391H	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	534	Kelch 5.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CAGGCTCACCGTGCCCAGCAG	0.587													A	20796663	G	A	20796663	2	1	94	1	0	0	0	0	0	0	0	1	8377	1136	40	1		1	KLHL22	22	20796663	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	956976	20796663	30507903	3470	62603											
PPM1F	9647	broad.mit.edu	37	chr22	22300339	22300339	+	Nonsense_Mutation	SNP	G	G	A													cagcagggctgggaagtcttGcaggagcgtgtccaggaagc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:22300339G>A	uc002zvp.1	-	2	196	c.82C>T	c.(82-84)CAA>TAA	p.Q28*	PPM1F_uc002zvq.2_Nonsense_Mutation_p.Q28*	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	28					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GGGAAGTCTTGCAGGAGCGTG	0.657													A	22300339	G	A	22300339	4	1	94	1	0	0	0	0	0	1	0	0	12339	1328	46	2	1310	2	PPM1F	22	22300339	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1503676	22300339	29004227	3471	62604	301	2									
PPM1F	9647	broad.mit.edu	37	chr22	22300347	22300347	+	Missense_Mutation	SNP	G	G	A													ctgggaagtcttgcaggagcGtgtccaggaagcctggggtc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:22300347G>A	uc002zvp.1	-	2	188	c.74C>T	c.(73-75)ACG>ATG	p.T25M	PPM1F_uc002zvq.2_Missense_Mutation_p.T25M	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	25					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		TTGCAGGAGCGTGTCCAGGAA	0.662													A	22300347	G	A	22300347	3	1	94	1	0	0	0	0	1	0	0	0	12339	1145	40	1	1318	1	PPM1F	22	22300347	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	8	22300347	29004219	3472	62605	301	2									
GNAZ	2781	broad.mit.edu	37	chr22	23438280	23438280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcatgcgacggctctgggCcgacccaggggcacaggcct	15	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:23438280C>T	uc002zwu.1	+	2	935	c.398C>T	c.(397-399)GCC>GTC	p.A133V	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	133						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CGGCTCTGGGCCGACCCAGGG	0.677													T	23438280	C	T	23438280	3	4	94	1	0	0	0	0	1	0	0	0	6514	739	26	2	400	2	GNAZ	22	23438280	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1137933	23438280	27866286	3473	62606											
BCR	613	broad.mit.edu	37	chr22	23596096	23596096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgactcgccctcctcatcgCcccacctcagcagcaagggc	8	19	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:23596096C>T	uc002zww.2	+	2	1986	c.1390C>T	c.(1390-1392)CCC>TCC	p.P464S	BCR_uc002zwx.2_Missense_Mutation_p.P464S|BCR_uc011aiy.1_Missense_Mutation_p.P53S|BCR_uc010gtx.1_5'UTR	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	464					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						CTCCTCATCGCCCCACCTCAG	0.662			T	ABL1| FGFR1|JAK2 	CML|ALL|AML								T	23596096	C	T	23596096	3	4	94	1	0	0	0	0	1	0	0	0	1388	739	26	2	1396	2	BCR	22	23596096	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	157816	23596096	27708470	3474	62607											
BCR	613	broad.mit.edu	37	chr22	23656168	23656168	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagctctttcagacccGgttgcaaaggagagctgcat	11	11	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:23656168G>A	uc002zww.2	+	21	4067	c.3471G>A	c.(3469-3471)CCG>CCA	p.P1157P	BCR_uc002zwx.2_Silent_p.P1113P|BCR_uc011aiy.1_Silent_p.P746P	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	1157	Rho-GAP.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						TTTCAGACCCGGTTGCAAAGG	0.587			T	ABL1| FGFR1|JAK2 	CML|ALL|AML								A	23656168	G	A	23656168	2	1	94	1	0	0	0	0	0	0	0	1	1388	1103	39	1		1	BCR	22	23656168	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	60072	23656168	27648398	3475	62608											
RGL4	266747	broad.mit.edu	37	chr22	24039376	24039376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtgtggtccccttcctgGgggattttctgactgagtta	14	8	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:24039376G>A	uc002zxn.2	+	8	2350	c.1180G>A	c.(1180-1182)GGG>AGG	p.G394R	LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Missense_Mutation_p.G394R|RGL4_uc002zxp.1_Missense_Mutation_p.G258R|RGL4_uc002zxq.2_Missense_Mutation_p.G258R	NM_153615	NP_705843	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation	394	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			ovary(1)	1						CCCCTTCCTGGGGGATTTTCT	0.612													A	24039376	G	A	24039376	3	1	94	1	0	0	0	0	1	0	0	0	13279	1232	43	4	1210	4	RGL4	22	24039376	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	383208	24039376	27265190	3476	62609											
SUSD2	56241	broad.mit.edu	37	chr22	24583316	24583316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacacccacggcctcctcGggacactcaacaacgacccc	6	22	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:24583316G>A	uc002zzn.1	+	11	1833	c.1789G>A	c.(1789-1791)GGG>AGG	p.G597R		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	597	VWFD.|Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CGGCCTCCTCGGGACACTCAA	0.672													A	24583316	G	A	24583316	3	1	94	1	0	0	0	0	1	0	0	0	15405	1116	39	1	1831	1	SUSD2	22	24583316	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	543940	24583316	26721250	3477	62610											
CYTSA	23384	broad.mit.edu	37	chr22	24726395	24726395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattggaggaaataaagtcaCgcaagtaagttctgagaaac	10	5	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:24726395C>T	uc002zzw.2	+	8	2699	c.2392C>T	c.(2392-2394)CGC>TGC	p.R798C	CYTSA_uc002zzv.3_Missense_Mutation_p.R798C|CYTSA_uc011ajq.1_Missense_Mutation_p.R798C	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	798	Potential.				cell cycle|cell division						0						AATAAAGTCACGCAAGTAAGT	0.378													T	24726395	C	T	24726395	3	4	94	1	0	0	0	0	1	0	0	0	4209	536	19	1	2414	1	CYTSA	22	24726395	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	143079	24726395	26578171	3478	62611											
GGT1	2678	broad.mit.edu	37	chr22	25019812	25019812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgacgtaccaccgcatcGtagaggctttccggtttgcc	11	14	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:25019812G>A	uc003aan.1	+	11	1436	c.949G>A	c.(949-951)GTA>ATA	p.V317I	GGT1_uc003aas.1_Missense_Mutation_p.V317I|GGT1_uc003aat.1_Missense_Mutation_p.V317I|GGT1_uc003aau.1_Missense_Mutation_p.V317I|GGT1_uc003aav.1_Missense_Mutation_p.V317I|GGT1_uc003aaw.1_Missense_Mutation_p.V317I|GGT1_uc003aax.1_Missense_Mutation_p.V317I	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	317	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)	CCACCGCATCGTAGAGGCTTT	0.617													A	25019812	G	A	25019812	3	1	94	1	0	0	0	0	1	0	0	0	6361	1145	40	1	975	1	GGT1	22	25019812	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	293417	25019812	26284754	3479	62612											
PIWIL3	440822	broad.mit.edu	37	chr22	25155856	25155856	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cttgagactgtgctcctcctCctgctcctcctcttgctgct	7	17	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:25155856C>G	uc003abd.1	-	3	620	c.203G>C	c.(202-204)GGA>GCA	p.G68A	PIWIL3_uc011ajx.1_5'UTR|PIWIL3_uc011ajy.1_5'UTR|PIWIL3_uc010gut.1_Missense_Mutation_p.G68A	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	piwi-like 3	68					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4						TGCTCCTCCTCCTGCTCCTCC	0.587													G	25155856	C	G	25155856	3	3	94	1	0	0	0	0	1	0	0	0	11959	855	30	5	2521	5	PIWIL3	22	25155856	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	136044	25155856	26148710	3480	62613											
CRYBB2	1415	broad.mit.edu	37	chr22	25617439	25617439	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcgggcaagccacagtccCtcaaccccaaggtgggtacc	12	15	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:25617439C>A	uc003abp.1	+	2	91	c.43C>A	c.(43-45)CTC>ATC	p.L15I		NM_000496	NP_000487	P43320	CRBB2_HUMAN	crystallin, beta B2	15	N-terminal arm.				response to stimulus|visual perception		structural constituent of eye lens				0						GCCACAGTCCCTCAACCCCAA	0.567													A	25617439	C	A	25617439	3	1	94	1	0	0	0	0	1	0	0	0	3911	681	24	5	45	5	CRYBB2	22	25617439	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	461583	25617439	25687127	3481	62614											
HPS4	89781	broad.mit.edu	37	chr22	26859915	26859915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcgctgtctcccagcaGcggctcctcagccagcaggg	14	16	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:26859915G>A	uc003acl.2	-	11	2340	c.1681C>T	c.(1681-1683)CTG>TTG	p.L561L	HPS4_uc003aci.2_Silent_p.L556L|HPS4_uc003acj.2_Silent_p.L425L|HPS4_uc003ack.2_Silent_p.L352L|HPS4_uc003acn.2_Silent_p.L407L|HPS4_uc010gvd.1_Silent_p.L579L|HPS4_uc003ach.2_Silent_p.L296L	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	561					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0						TCTCCCAGCAGCGGCTCCTCA	0.617									Hermansky-Pudlak_syndrome				A	26859915	G	A	26859915	2	1	94	1	0	0	0	0	0	0	0	1	7341	962	34	2		2	HPS4	22	26859915	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1242476	26859915	24444651	3482	62615											
HPS4	89781	broad.mit.edu	37	chr22	26860019	26860019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggtgtcagcctggagCtgattccatctgcagagggg	15	10	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:26860019C>T	uc003acl.2	-	11	2236	c.1577G>A	c.(1576-1578)AGC>AAC	p.S526N	HPS4_uc003aci.2_Missense_Mutation_p.S521N|HPS4_uc003acj.2_Missense_Mutation_p.S390N|HPS4_uc003ack.2_Missense_Mutation_p.S317N|HPS4_uc003acn.2_Missense_Mutation_p.S372N|HPS4_uc010gvd.1_Missense_Mutation_p.S544N|HPS4_uc003ach.2_Missense_Mutation_p.S261N	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	526					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0						CAGCCTGGAGCTGATTCCATC	0.587									Hermansky-Pudlak_syndrome				T	26860019	C	T	26860019	3	4	94	1	0	0	0	0	1	0	0	0	7341	797	28	2	565	2	HPS4	22	26860019	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	104	26860019	24444547	3483	62616											
CRYBA4	1413	broad.mit.edu	37	chr22	27026389	27026389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtgactacaaacatttcCgggagtggggctctcatgcc	12	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:27026389C>T	uc003acz.3	+	6	564	c.529C>T	c.(529-531)CGG>TGG	p.R177W		NM_001886	NP_001877	P53673	CRBA4_HUMAN	crystallin, beta A4	177	Beta/gamma crystallin 'Greek key' 4.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens				0						CAAACATTTCCGGGAGTGGGG	0.567													T	27026389	C	T	27026389	3	4	94	1	0	0	0	0	1	0	0	0	3909	643	23	1	547	1	CRYBA4	22	27026389	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	166370	27026389	24278177	3484	62617											
ZNRF3	84133	broad.mit.edu	37	chr22	29445399	29445399	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagagcctctattccccGcagacccccgcctacatccg	8	19	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:29445399G>A	uc003aeg.2	+	8	1095	c.930G>A	c.(928-930)CCG>CCA	p.P310P	ZNRF3_uc003aeh.1_Silent_p.P310P	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	410	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1						TCTATTCCCCGCAGACCCCCG	0.687													A	29445399	G	A	29445399	2	1	94	1	0	0	0	0	0	0	0	1	18210	1074	38	1		1	ZNRF3	22	29445399	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2419010	29445399	21859167	3485	62618											
RASL10A	10633	broad.mit.edu	37	chr22	29709555	29709555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcttcgggcgcgcccgccGgcctgggggccgaatggaga	19	14	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:29709555G>A	uc003aff.2	-	3	860	c.347C>T	c.(346-348)CCG>CTG	p.P116L	RASL10A_uc003afg.2_3'UTR	NM_006477	NP_006468	Q92737	RSLAA_HUMAN	RAS-related on chromosome 22 isoform a	116	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity				0						CGCGCCCGCCGGCCTGGGGGC	0.716													A	29709555	G	A	29709555	3	1	94	1	0	0	0	0	1	0	0	0	13079	1116	39	1	268	1	RASL10A	22	29709555	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	264156	29709555	21595011	3486	62619											
MTMR3	8897	broad.mit.edu	37	chr22	30416736	30416736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacagacacgatccaacagCgcctgcgtcagattgagtca	9	13	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:30416736C>T	uc003agv.3	+	17	3416	c.3088C>T	c.(3088-3090)CGC>TGC	p.R1030C	MTMR3_uc003agu.3_Missense_Mutation_p.R1030C|MTMR3_uc003agw.3_Missense_Mutation_p.R1030C	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	1030	Potential.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GATCCAACAGCGCCTGCGTCA	0.572													T	30416736	C	T	30416736	3	4	94	1	0	0	0	0	1	0	0	0	9945	768	27	1	3146	1	MTMR3	22	30416736	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	707181	30416736	20887830	3487	62620											
PES1	23481	broad.mit.edu	37	chr22	30980610	30980610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacagctgaatggtctgcaCgtggcacttgccagtccgcg	13	13	1	1	rs142150429	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:30980610C>T	uc003aij.1	-	5	537	c.463G>A	c.(463-465)GTG>ATG	p.V155M	PES1_uc003aik.1_Missense_Mutation_p.V155M|PES1_uc003ail.1_Missense_Mutation_p.V155M|PES1_uc003aim.1_Missense_Mutation_p.V155M|PES1_uc003ain.1_Missense_Mutation_p.V16M|PES1_uc003aio.1_Missense_Mutation_p.V16M	NM_014303	NP_055118	O00541	PESC_HUMAN	pescadillo homolog 1, containing BRCT domain	155	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						ATGGTCTGCACGTGGCACTTG	0.617													T	30980610	C	T	30980610	3	4	94	1	0	0	0	0	1	0	0	0	11733	536	19	1	1347	1	PES1	22	30980610	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	563874	30980610	20323956	3488	62621											
SMTN	6525	broad.mit.edu	37	chr22	31486953	31486953	+	Frame_Shift_Del	DEL	C	C	-													cctgttccttctagagtccaCcccccttgccagcggacctt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:31486953delC	uc003ajl.1	+	10	1162	c.944delC	c.(943-945)ACCfs	p.T315fs	SMTN_uc003ajk.1_Frame_Shift_Del_p.T315fs|SMTN_uc003ajm.1_Frame_Shift_Del_p.T315fs|SMTN_uc011ale.1_Frame_Shift_Del_p.T369fs|SMTN_uc011alf.1_Frame_Shift_Del_p.T371fs|SMTN_uc003ajn.1_Frame_Shift_Del_p.T307fs|SMTN_uc011alg.1_5'UTR|SMTN_uc003ajo.1_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.1_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	315					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						CTAGAGTCCACCCCCCTTGCC	0.587													-	31486953	C	-	31486953	7	5	94	1	0	1	0	1	0	0	0	0	14814	507	18	0	978	0	SMTN	22	31486953	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	506343	31486953	19817613	3489	62622											
INPP5J	27124	broad.mit.edu	37	chr22	31523368	31523368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagggtggcgtgagcgtgcGcctggcggccttcgggcaca	18	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:31523368G>A	uc003aju.3	+	6	1729	c.1637G>A	c.(1636-1638)CGC>CAC	p.R546H	INPP5J_uc003ajv.3_Missense_Mutation_p.R179H|INPP5J_uc003ajs.3_Missense_Mutation_p.R179H|INPP5J_uc011alk.1_Missense_Mutation_p.R479H|INPP5J_uc010gwg.2_Missense_Mutation_p.R111H|INPP5J_uc003ajw.2_5'UTR|INPP5J_uc003ajt.3_Missense_Mutation_p.R178H|INPP5J_uc003ajx.2_5'Flank|INPP5J_uc003ajy.2_5'Flank|INPP5J_uc003ajz.2_5'Flank	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	phosphatidylinositol (4,5) bisphosphate	546	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			skin(1)	1						GTGAGCGTGCGCCTGGCGGCC	0.637													A	31523368	G	A	31523368	3	1	94	1	0	0	0	0	1	0	0	0	7759	1087	38	1	555	1	INPP5J	22	31523368	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	36415	31523368	19781198	3490	62623											
DEPDC5	9681	broad.mit.edu	37	chr22	32218710	32218710	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgccagcctggtgacggcAtgtccttcttgaacttcagt	10	14	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:32218710A>G	uc003als.2	+	24	2180	c.2038A>G	c.(2038-2040)ATG>GTG	p.M680V	DEPDC5_uc011als.1_Intron|DEPDC5_uc011alu.1_Missense_Mutation_p.M680V|DEPDC5_uc011alv.1_Intron|DEPDC5_uc003alt.2_Missense_Mutation_p.M680V|DEPDC5_uc003alu.2_Missense_Mutation_p.M120V|DEPDC5_uc003alv.2_Intron|DEPDC5_uc011alw.1_Missense_Mutation_p.M1V|DEPDC5_uc011alt.1_Intron	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	680					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						TGGTGACGGCATGTCCTTCTT	0.507													G	32218710	A	G	32218710	3	3	94	1	0	0	0	0	1	0	0	0	4442	217	8	3	2146	3	DEPDC5	22	32218710	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	695342	32218710	19085856	3491	62624											
C22orf28	51493	broad.mit.edu	37	chr22	32792089	32792089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaagaaggtcatggaagagCggttgacccaggcatagttc	13	7	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:32792089C>T	uc003amm.2	-	8	1093	c.962G>A	c.(961-963)CGC>CAC	p.R321H	C22orf28_uc011ama.1_RNA	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	hypothetical protein LOC51493	321					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding				0						CATGGAAGAGCGGTTGACCCA	0.488													T	32792089	C	T	32792089	3	4	94	1	0	0	0	0	1	0	0	0	2140	768	27	1	575	1	C22orf28	22	32792089	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	573379	32792089	18512477	3492	62625											
BPIL2	254240	broad.mit.edu	37	chr22	32841856	32841856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggaaaatgagacgtgggCatggctcagttgggcgtagc	16	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:32841856C>T	uc003amn.2	-	4	502	c.502G>A	c.(502-504)GCC>ACC	p.A168T	BPIL2_uc010gwo.2_5'UTR|BPIL2_uc011amb.1_Intron	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	bactericidal/permeability-increasing	168						extracellular region	lipopolysaccharide binding|phospholipid binding			ovary(1)|skin(1)	2						GAGACGTGGGCATGGCTCAGT	0.522													T	32841856	C	T	32841856	3	4	94	1	0	0	0	0	1	0	0	0	1492	710	25	2	1069	2	BPIL2	22	32841856	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	49767	32841856	18462710	3493	62626											
TIMP3	7078	broad.mit.edu	37	chr22	33255321	33255321	+	Frame_Shift_Del	DEL	G	G	-													ctgcagctggtaccgaggatGggcccccccggataaaagca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:33255320_33255320TG>T	uc003anb.3	+	4	1778	c.592_592TG>T	c.(592-594)tggfs	p.W198fs	SYN3_uc003amx.3_Intron|SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Intron	NM_000362	NP_000353	P35625	TIMP3_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 3 (TIMP3), mRNA.	198					negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						GTACCGAGGATGGGCCCCCCC	0.612													-	33255321	G	-	33255321	7	5	94	1	0	1	0	1	0	0	0	0	15916	1357	47	0	611	0	TIMP3	22	33255321	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	413465	33255321	18049245	3494	62627	302	2									
TIMP3	7078	broad.mit.edu	37	chr22	33255324	33255325	+	Frame_Shift_Ins	INS	-	-	C													agctggtaccgaggatgggcINSccccccggataaaagcatca							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:33255323_33255324G>GC	uc003anb.3	+	4	1781_1782	c.595_596G>GC	c.(595-597)gccfs	p.A199fs	SYN3_uc003amx.3_Intron|SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Intron	NM_000362	NP_000353	P35625	TIMP3_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 3 (TIMP3), mRNA.	199					negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						CCGAGGATGGGCCCCCCCGGAT	0.604													C	33255325	-	C	33255324	7	5	94	1	0	1	1	0	0	0	0	0	15916	739	26	0	614	0	TIMP3	22	33255324	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	3	33255324	18049242	3495	62628	302	2									
LARGE	9215	broad.mit.edu	37	chr22	33673216	33673216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggcgaagtttgtgggtgCgtggcctttcgtccagacgt	15	9	0	1	rs150325234		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:33673216C>T	uc003and.3	-	15	2482	c.1903G>A	c.(1903-1905)GCA>ACA	p.A635T	LARGE_uc011amd.1_Missense_Mutation_p.A434T|LARGE_uc003ane.3_Missense_Mutation_p.A635T|LARGE_uc010gwp.2_Missense_Mutation_p.A583T|LARGE_uc011ame.1_Missense_Mutation_p.A567T|LARGE_uc011amf.1_Missense_Mutation_p.A586T	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	635	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				TTTGTGGGTGCGTGGCCTTTC	0.577													T	33673216	C	T	33673216	3	4	94	1	0	0	0	0	1	0	0	0	8627	768	27	1	375	1	LARGE	22	33673216	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	417892	33673216	17631350	3496	62629											
ISX	91464	broad.mit.edu	37	chr22	35481594	35481594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggaaacacagcctgtcccaGgtcttcccatccatcaaact	7	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:35481594G>T	uc003anj.2	+	4	1597	c.646G>T	c.(646-648)GGT>TGT	p.G216C	ISX_uc011amg.1_Missense_Mutation_p.G204C	NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	216						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)	5						GCCTGTCCCAGGTCTTCCCAT	0.562													T	35481594	G	T	35481594	3	4	94	1	0	0	0	0	1	0	0	0	7865	1000	35	5	660	5	ISX	22	35481594	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1808378	35481594	15822972	3497	62630											
EIF3D	8664	broad.mit.edu	37	chr22	36912576	36912576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgaaggacacttccccGttggctccagtcatgacgcc	10	13	1	3	rs117599987	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:36912576G>A	uc003apq.2	-	12	1271	c.1155C>T	c.(1153-1155)AAC>AAT	p.N385N	EIF3D_uc011amr.1_Silent_p.N212N|EIF3D_uc003apr.2_Silent_p.N385N|EIF3D_uc011ams.1_Silent_p.N288N|EIF3D_uc011amt.1_Silent_p.N336N	NM_003753	NP_003744	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3	385						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			pancreas(1)	1						ACACTTCCCCGTTGGCTCCAG	0.502													A	36912576	G	A	36912576	2	1	94	1	0	0	0	0	0	0	0	1	5014	1136	40	1		1	EIF3D	22	36912576	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1430982	36912576	14391990	3498	62631											
KCTD17	79734	broad.mit.edu	37	chr22	37457620	37457620	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacctgaggctgagcttgcaGtgagggcttctcctcggccc	14	13	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:37457620G>C	uc010gxb.2	+	8	848	c.826G>C	c.(826-828)GTG>CTG	p.V276L	KCTD17_uc011amv.1_Missense_Mutation_p.V259L|KCTD17_uc010gxc.2_Missense_Mutation_p.Q218H	NM_024681	NP_078957	Q8N5Z5	KCD17_HUMAN	potassium channel tetramerisation domain	283	Pro-rich.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity				0						TGAGCTTGCAGTGAGGGCTTC	0.682													C	37457620	G	C	37457620	3	2	94	1	0	0	0	0	1	0	0	0	8104	1029	36	5	801	5	KCTD17	22	37457620	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	545044	37457620	13846946	3499	62632											
TMPRSS6	164656	broad.mit.edu	37	chr22	37462147	37462147	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accacttgctggatccagctGatcacacctgtgatgcgggt	11	12	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:37462147G>A	uc003aqs.1	-	18	2523	c.2409C>T	c.(2407-2409)ATC>ATT	p.I803I	TMPRSS6_uc003aqt.1_Silent_p.I816I	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	803	Peptidase S1.|Extracellular (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)|skin(1)	6						GGATCCAGCTGATCACACCTG	0.652													A	37462147	G	A	37462147	2	1	94	1	0	0	0	0	0	0	0	1	16248	1280	45	4		4	TMPRSS6	22	37462147	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	4527	37462147	13842419	3500	62633											
ELFN2	114794	broad.mit.edu	37	chr22	37770482	37770482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgaagcggcggctgttgcGcagcgaggtcacgcagaagg	18	9	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:37770482G>A	uc003asq.3	-	3	1879	c.1093C>T	c.(1093-1095)CGC>TGC	p.R365C		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	365	Fibronectin type-III.|Extracellular (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					CGGCTGTTGCGCAGCGAGGTC	0.617													A	37770482	G	A	37770482	3	1	94	1	0	0	0	0	1	0	0	0	5058	1087	38	1	1373	1	ELFN2	22	37770482	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	308335	37770482	13534084	3501	62634											
GGA1	26088	broad.mit.edu	37	chr22	38014500	38014500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggcaagcggttccacgacGaagtgggcaagttccgcttt	14	11	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:38014500G>A	uc003atc.2	+	4	615	c.250G>A	c.(250-252)GAA>AAA	p.E84K	GGA1_uc003atd.2_Missense_Mutation_p.E84K|GGA1_uc003ate.2_Missense_Mutation_p.E84K|GGA1_uc003atf.2_Missense_Mutation_p.E11K	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	84	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					GTTCCACGACGAAGTGGGCAA	0.632													A	38014500	G	A	38014500	3	1	94	1	0	0	0	0	1	0	0	0	6352	1059	37	1	330	1	GGA1	22	38014500	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	244018	38014500	13290066	3502	62635											
TRIOBP	11078	broad.mit.edu	37	chr22	38165112	38165112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtgcctggagattggggCactcatgcggcaggctgagg	18	8	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:38165112C>T	uc003atr.2	+	20	6924	c.6653C>T	c.(6652-6654)GCA>GTA	p.A2218V	TRIOBP_uc003atu.2_Missense_Mutation_p.A2046V|TRIOBP_uc003atw.2_Missense_Mutation_p.A505V|TRIOBP_uc003atx.1_Missense_Mutation_p.A101V|TRIOBP_uc010gxh.2_Missense_Mutation_p.A101V	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	2218	Potential.				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					GAGATTGGGGCACTCATGCGG	0.667													T	38165112	C	T	38165112	3	4	94	1	0	0	0	0	1	0	0	0	16550	710	25	2	7025	2	TRIOBP	22	38165112	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	150612	38165112	13139454	3503	62636											
H1F0	3005	broad.mit.edu	37	chr22	38201808	38201808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctcaagcagaccaaagGggtgggggcctcggggtcct	16	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:38201808G>A	uc003aty.2	+	1	695	c.257G>A	c.(256-258)GGG>GAG	p.G86E	GCAT_uc003atz.2_5'Flank|GCAT_uc003aua.1_5'Flank	NM_005318	NP_005309	P07305	H10_HUMAN	H1 histone family, member 0	86	H15.				DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding				0	Melanoma(58;0.045)					CAGACCAAAGGGGTGGGGGCC	0.557													A	38201808	G	A	38201808	3	1	94	1	0	0	0	0	1	0	0	0	6920	1232	43	4	259	4	H1F0	22	38201808	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	36696	38201808	13102758	3504	62637											
BAIAP2L2	80115	broad.mit.edu	37	chr22	38481351	38481351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcattggtgatggtgggacGaagcttgacagtggcaaaag	16	5	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:38481351G>A	uc003auw.2	-	14	1690	c.1546C>T	c.(1546-1548)CGT>TGT	p.R516C	SLC16A8_uc003auu.2_5'Flank|BAIAP2L2_uc003auv.2_RNA	NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	516					filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			pancreas(1)	1	Melanoma(58;0.045)					ATGGTGGGACGAAGCTTGACA	0.612													A	38481351	G	A	38481351	3	1	94	1	0	0	0	0	1	0	0	0	1303	1058	37	1	47	1	BAIAP2L2	22	38481351	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	279543	38481351	12823215	3505	62638											
CSNK1E	1454	broad.mit.edu	37	chr22	38690122	38690122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggcagctcacctgtgagGctgggatccgggagacctct	17	11	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:38690122G>A	uc003avj.2	-	9	1472	c.1211C>T	c.(1210-1212)GCC>GTC	p.A404V	CSNK1E_uc003avk.2_Missense_Mutation_p.A404V|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.A404V|CSNK1E_uc003avn.1_Missense_Mutation_p.A88V|CSNK1E_uc003avo.2_Missense_Mutation_p.A404V	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	404					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)					CACCTGTGAGGCTGGGATCCG	0.647													A	38690122	G	A	38690122	3	1	94	1	0	0	0	0	1	0	0	0	3953	1203	42	2	47	2	CSNK1E	22	38690122	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	208771	38690122	12614444	3506	62639											
CBX6	23466	broad.mit.edu	37	chr22	39262535	39262535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacctccggctcgcgccaGctgggggcggatgggctcac	16	15	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:39262535G>A	uc003awl.2	-	5	981	c.918C>T	c.(916-918)AGC>AGT	p.S306S		NM_014292	NP_055107	O95503	CBX6_HUMAN	chromobox homolog 6	306					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex					0	Melanoma(58;0.04)					GCTCGCGCCAGCTGGGGGCGG	0.731													A	39262535	G	A	39262535	2	1	94	1	0	0	0	0	0	0	0	1	2722	962	34	2		2	CBX6	22	39262535	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	572413	39262535	12042031	3507	62640											
CBX6	23466	broad.mit.edu	37	chr22	39263061	39263061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggcggggcaggggacggCgggacatacggtggcagcgg	23	10	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:39263061C>T	uc003awl.2	-	5	455	c.392G>A	c.(391-393)CGC>CAC	p.R131H		NM_014292	NP_055107	O95503	CBX6_HUMAN	chromobox homolog 6	131					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex					0	Melanoma(58;0.04)					CAGGGGACGGCGGGACATACG	0.706													T	39263061	C	T	39263061	3	4	94	1	0	0	0	0	1	0	0	0	2722	768	27	1	850	1	CBX6	22	39263061	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	526	39263061	12041505	3508	62641											
CBX7	23492	broad.mit.edu	37	chr22	39529913	39529913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattcagaacttcccactgcGgtctcggaagaagccctcag	10	13	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:39529913G>A	uc003axb.2	-	6	828	c.739C>T	c.(739-741)CGC>TGC	p.R247C	CBX7_uc003axc.2_Missense_Mutation_p.R154C	NM_175709	NP_783640	O95931	CBX7_HUMAN	chromobox homolog 7	247					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				ovary(1)	1	Melanoma(58;0.04)					TTCCCACTGCGGTCTCGGAAG	0.577													A	39529913	G	A	39529913	3	1	94	1	0	0	0	0	1	0	0	0	2723	1116	39	1	20	1	CBX7	22	39529913	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	266852	39529913	11774653	3509	62642											
TAB1	10454	broad.mit.edu	37	chr22	39811635	39811635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgccgagcacgccgaggccGatgtgcggcgtgtgctgctg	17	12	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:39811635G>A	uc003axt.2	+	3	350	c.301G>A	c.(301-303)GAT>AAT	p.D101N	TAB1_uc003axr.2_Missense_Mutation_p.D177N|TAB1_uc011aok.1_5'UTR|TAB1_uc003axu.1_Missense_Mutation_p.D101N	NM_006116	NP_006107	Q15750	TAB1_HUMAN	mitogen-activated protein kinase kinase kinase 7	101	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)	1						CGCCGAGGCCGATGTGCGGCG	0.647													A	39811635	G	A	39811635	3	1	94	1	0	0	0	0	1	0	0	0	15492	1058	37	1	311	1	TAB1	22	39811635	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	281722	39811635	11492931	3510	62643											
SGSM3	27352	broad.mit.edu	37	chr22	40801691	40801691	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgttcctggaggaggaggaCgccttctggatgatgtctgc	15	9	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:40801691C>G	uc003ayu.1	+	8	866	c.657C>G	c.(655-657)GAC>GAG	p.D219E	SGSM3_uc010gyc.1_Missense_Mutation_p.D219E|SGSM3_uc011aos.1_Missense_Mutation_p.D152E|SGSM3_uc011aot.1_Missense_Mutation_p.D156E|SGSM3_uc010gyd.1_Missense_Mutation_p.D219E	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	219	Rab-GAP TBC.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2						AGGAGGAGGACGCCTTCTGGA	0.572													G	40801691	C	G	40801691	3	3	94	1	0	0	0	0	1	0	0	0	14224	535	19	5	683	5	SGSM3	22	40801691	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	990056	40801691	10502875	3511	62644											
RANGAP1	5905	broad.mit.edu	37	chr22	41647028	41647028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctactgcatcctgcactGccatcctcacagtagcttcg	6	16	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:41647028G>A	uc003azs.2	-	12	2936	c.1466C>T	c.(1465-1467)GCA>GTA	p.A489V	RANGAP1_uc003azt.2_Missense_Mutation_p.A489V|RANGAP1_uc003azu.2_Missense_Mutation_p.A489V|RANGAP1_uc003azr.2_Missense_Mutation_p.A2V|RANGAP1_uc010gyk.2_5'UTR|RANGAP1_uc011aoz.1_Missense_Mutation_p.A434V	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	489					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						ATCCTGCACTGCCATCCTCAC	0.557													A	41647028	G	A	41647028	3	1	94	1	0	0	0	0	1	0	0	0	13033	1319	46	2	313	2	RANGAP1	22	41647028	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	845337	41647028	9657538	3512	62645											
RANGAP1	5905	broad.mit.edu	37	chr22	41647047	41647047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccatcctcacagtagcttCgtccttgaacacagatgaca	7	13	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:41647047C>T	uc003azs.2	-	12	2917	c.1447G>A	c.(1447-1449)GAA>AAA	p.E483K	RANGAP1_uc003azt.2_Missense_Mutation_p.E483K|RANGAP1_uc003azu.2_Missense_Mutation_p.E483K|RANGAP1_uc003azr.2_5'UTR|RANGAP1_uc010gyk.2_5'UTR|RANGAP1_uc011aoz.1_Missense_Mutation_p.E428K	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	483					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						ACAGTAGCTTCGTCCTTGAAC	0.562													T	41647047	C	T	41647047	3	4	94	1	0	0	0	0	1	0	0	0	13033	893	31	1	332	1	RANGAP1	22	41647047	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	19	41647047	9657519	3513	62646											
RANGAP1	5905	broad.mit.edu	37	chr22	41676983	41676983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgcctttgaaactcagCtgtcccccggccacctgagt	8	16	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:41676983C>T	uc003azs.2	-	1	1536	c.66G>A	c.(64-66)CAG>CAA	p.Q22Q	RANGAP1_uc003azt.2_Silent_p.Q22Q|RANGAP1_uc003azu.2_Silent_p.Q22Q|RANGAP1_uc011aoz.1_5'Flank	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	22					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						TGAAACTCAGCTGTCCCCCGG	0.557													T	41676983	C	T	41676983	2	4	94	1	0	0	0	0	0	0	0	1	13033	796	28	2		2	RANGAP1	22	41676983	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	29936	41676983	9627583	3514	62647											
ACO2	50	broad.mit.edu	37	chr22	41920925	41920927	+	In_Frame_Del	DEL	AAG	AAG	-													acctgacgggcacggatggcAagaagttcaggctggaggct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:41920925_41920927delAAG	uc003bac.2	+	13	1580_1582	c.1558_1560delAAG	c.(1558-1560)AAGdel	p.K521del	ACO2_uc003bad.2_In_Frame_Del_p.K546del	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	521					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(2)|ovary(1)|lung(1)	4						CACGGATGGCAAGAAGTTCAGGC	0.591													-	41920927	AAG	-	41920925	7	5	94	1	0	1	0	1	0	0	0	0	147	131	5	0	1608	0	ACO2	22	41920925	In_Frame_Del	DEL	AAG	TCGA-BR-8487-01A-11D-2394-08	243942	41920925	9383641	3515	62648											
MEI1	150365	broad.mit.edu	37	chr22	42139162	42139162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgctaaaccgatgtgcGgagttttcccagaccttgct	10	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:42139162G>A	uc003baz.1	+	12	1435	c.1410G>A	c.(1408-1410)GCG>GCA	p.A470A	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc003bay.3_Silent_p.A470A|MEI1_uc011apd.1_Intron	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	470							binding			central_nervous_system(1)|skin(1)	2						ACCGATGTGCGGAGTTTTCCC	0.517													A	42139162	G	A	42139162	2	1	94	1	0	0	0	0	0	0	0	1	9465	1103	39	1		1	MEI1	22	42139162	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	218237	42139162	9165404	3516	62649											
MEI1	150365	broad.mit.edu	37	chr22	42141893	42141893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacattgatttcttaggttgGctatagaattccagagtgag	10	6	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:42141893G>A	uc003baz.1	+	14	1568	c.1543G>A	c.(1543-1545)GCT>ACT	p.A515T	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc003bay.3_Missense_Mutation_p.A515T|MEI1_uc011apd.1_RNA	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	515							binding			central_nervous_system(1)|skin(1)	2						TCTTAGGTTGGCTATAGAATT	0.502													A	42141893	G	A	42141893	3	1	94	1	0	0	0	0	1	0	0	0	9465	1203	42	2	1597	2	MEI1	22	42141893	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2731	42141893	9162673	3517	62650											
FAM109B	150368	broad.mit.edu	37	chr22	42473684	42473684	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatgcgcctggtggtacgCgagttggagagccagttgca	15	9	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:42473684C>T	uc003bbz.2	+	3	574	c.387C>T	c.(385-387)CGC>CGT	p.R129R	C22orf32_uc003bca.2_5'Flank	NM_001002034	NP_001002034	Q6ICB4	SESQ2_HUMAN	hypothetical protein LOC150368	129	Potential.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity				0						TGGTGGTACGCGAGTTGGAGA	0.662													T	42473684	C	T	42473684	2	4	94	1	0	0	0	0	0	0	0	1	5395	755	27	1		1	FAM109B	22	42473684	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	331791	42473684	8830882	3518	62651											
CYB5R3	1727	broad.mit.edu	37	chr22	43015861	43015861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggatcatgggtggggggCcacacatcagcaccagcggc	15	12	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:43015861C>T	uc003bcz.2	-	9	908	c.824G>A	c.(823-825)GGC>GAC	p.G275D	CYB5R3_uc010gzc.1_Missense_Mutation_p.G149D|CYB5R3_uc003bcw.2_Missense_Mutation_p.G265D|CYB5R3_uc011aps.1_Missense_Mutation_p.G308D|CYB5R3_uc003bcy.2_Missense_Mutation_p.G252D|CYB5R3_uc003bcx.2_Missense_Mutation_p.G252D	NM_000398	NP_000389	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3 isoform m	275					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			skin(1)	1					NADH(DB00157)	GGGTGGGGGGCCACACATCAG	0.662													T	43015861	C	T	43015861	3	4	94	1	0	0	0	0	1	0	0	0	4128	739	26	2	85	2	CYB5R3	22	43015861	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	542177	43015861	8288705	3519	62652											
CYB5R3	1727	broad.mit.edu	37	chr22	43019833	43019833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgtaccagagcttgaagCgtgcagaatgtttgttcctg	13	8	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:43019833C>T	uc003bcz.2	-	8	779	c.695G>A	c.(694-696)CGC>CAC	p.R232H	CYB5R3_uc010gzc.1_Missense_Mutation_p.R106H|CYB5R3_uc003bcw.2_Missense_Mutation_p.R222H|CYB5R3_uc011aps.1_Missense_Mutation_p.R265H|CYB5R3_uc003bcy.2_Missense_Mutation_p.R209H|CYB5R3_uc003bcx.2_Missense_Mutation_p.R209H	NM_000398	NP_000389	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3 isoform m	232					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			skin(1)	1					NADH(DB00157)	GAGCTTGAAGCGTGCAGAATG	0.612													T	43019833	C	T	43019833	3	4	94	1	0	0	0	0	1	0	0	0	4128	768	27	1	218	1	CYB5R3	22	43019833	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3972	43019833	8284733	3520	62653											
PNPLA5	150379	broad.mit.edu	37	chr22	44287022	44287022	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggtcagcgaaatgcccaGccgctgggaggccaggacgt	17	12	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:44287022G>A	uc003beg.2	-	2	443	c.346C>T	c.(346-348)CTG>TTG	p.L116L	PNPLA5_uc011aqc.1_5'UTR|PNPLA5_uc003beh.2_Intron	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	116	Patatin.				lipid catabolic process		hydrolase activity				0		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GAAATGCCCAGCCGCTGGGAG	0.677													A	44287022	G	A	44287022	2	1	94	1	0	0	0	0	0	0	0	1	12168	962	34	2		2	PNPLA5	22	44287022	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1267189	44287022	7017544	3521	62654											
SAMM50	25813	broad.mit.edu	37	chr22	44385033	44385033	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtactgggccggcggcctgcAcctctacaccccattacctt	9	17	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:44385033A>G	uc003bej.2	+	13	1315	c.1118A>G	c.(1117-1119)CAC>CGC	p.H373R	SAMM50_uc011aqd.1_Missense_Mutation_p.H163R|SAMM50_uc003bek.2_Missense_Mutation_p.H178R	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	sorting and assembly machinery component 50	373					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			skin(1)	1		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GGCGGCCTGCACCTCTACACC	0.532													G	44385033	A	G	44385033	3	3	94	1	0	0	0	0	1	0	0	0	13829	159	6	3	1168	3	SAMM50	22	44385033	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	98011	44385033	6919533	3522	62655											
PRR5-ARHGAP8	553158	broad.mit.edu	37	chr22	45243858	45243858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcctctcctgcaggcctgCgcaccgagggcctgttccgg	13	17	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:45243858C>T	uc003bfd.2	+	14	1578	c.1306C>T	c.(1306-1308)CGC>TGC	p.R436C	PRR5-ARHGAP8_uc003bfc.2_Missense_Mutation_p.R357C|PRR5-ARHGAP8_uc011aqi.1_Missense_Mutation_p.R348C|PRR5-ARHGAP8_uc011aqj.1_Missense_Mutation_p.R262C|ARHGAP8_uc003bfi.2_Missense_Mutation_p.R226C|ARHGAP8_uc010gzv.2_Missense_Mutation_p.R226C|ARHGAP8_uc003bfj.2_Missense_Mutation_p.R257C|ARHGAP8_uc003bfk.2_Missense_Mutation_p.R226C|ARHGAP8_uc003bfl.2_RNA	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2											skin(2)	2						TGCAGGCCTGCGCACCGAGGG	0.642													T	45243858	C	T	45243858	3	4	94	1	0	0	0	0	1	0	0	0	12601	768	27	1	1088	1	PRR5-ARHGAP8	22	45243858	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	858825	45243858	6060708	3523	62656											
PHF21B	112885	broad.mit.edu	37	chr22	45309752	45309752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccttcttctttttggtggCctgagctccctgagatggct	10	11	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:45309752C>T	uc003bfn.2	-	5	932	c.781G>A	c.(781-783)GCC>ACC	p.A261T	PHF21B_uc003bfm.2_Missense_Mutation_p.A57T|PHF21B_uc011aqk.1_Missense_Mutation_p.A207T|PHF21B_uc011aql.1_Missense_Mutation_p.A219T|PHF21B_uc011aqm.1_Missense_Mutation_p.A207T	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	PHD finger protein 21B isoform 1	261							zinc ion binding			ovary(2)|skin(1)	3		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TTTTTGGTGGCCTGAGCTCCC	0.642													T	45309752	C	T	45309752	3	4	94	1	0	0	0	0	1	0	0	0	11834	739	26	2	850	2	PHF21B	22	45309752	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	65894	45309752	5994814	3524	62657											
TRMU	55687	broad.mit.edu	37	chr22	46742425	46742425	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagggcttttcagaaatcgGtttgaagttagaaatggtaa	12	3	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:46742425G>A	uc003bhp.2	+	4	826	c.462G>A	c.(460-462)CGG>CGA	p.R154R	TRMU_uc011arb.1_Silent_p.R154R|TRMU_uc003bhq.2_5'UTR|TRMU_uc003bhs.2_Silent_p.R154R|TRMU_uc003bhr.2_Silent_p.R40R|TRMU_uc003bht.2_Missense_Mutation_p.G27D|TRMU_uc003bhu.2_5'UTR|TRMU_uc003bhv.2_Missense_Mutation_p.G27D	NM_018006	NP_060476	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate	154						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			ovary(1)	1		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TCAGAAATCGGTTTGAAGTTA	0.453													A	46742425	G	A	46742425	2	1	94	1	0	0	0	0	0	0	0	1	16568	1248	44	4		4	TRMU	22	46742425	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1432673	46742425	4562141	3525	62658											
CELSR1	9620	broad.mit.edu	37	chr22	46931884	46931885	+	Frame_Shift_Ins	INS	-	-	C													ctggaagacgtcccacgcgcINScccccaacacgcggtaacgc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:46931883_46931884G>GC	uc003bhw.1	-	0	1184_1185	c.1184_1185C>GC	c.(1183-1185)ggcfs	p.G395fs		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	395	Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity	p.G395C(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGTCCCACGCGCCCCCCAACAC	0.683													C	46931885	-	C	46931884	7	5	94	1	0	1	1	0	0	0	0	0	3221	739	26	0	8000	0	CELSR1	22	46931884	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	189459	46931884	4372682	3526	62659											
GRAMD4	23151	broad.mit.edu	37	chr22	47069661	47069661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccacagcaccaagaaggGcaatttccacgagatcttca	7	13	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:47069661G>A	uc003bhx.2	+	14	1373	c.1334G>A	c.(1333-1335)GGC>GAC	p.G445D	GRAMD4_uc010had.2_Missense_Mutation_p.G384D|GRAMD4_uc003bhy.2_5'Flank	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	445	GRAM.				apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		ACCAAGAAGGGCAATTTCCAC	0.617													A	47069661	G	A	47069661	3	1	94	1	0	0	0	0	1	0	0	0	6752	1203	42	2	1388	2	GRAMD4	22	47069661	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	137777	47069661	4234905	3527	62660											
BRD1	23774	broad.mit.edu	37	chr22	50217466	50217466	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcttctcattgacgatcTccagccaggcatagtcctcc	8	15	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:50217466T>A	uc003biv.2	-	1	987	c.500A>T	c.(499-501)GAG>GTG	p.E167V	BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Missense_Mutation_p.E167V|BRD1_uc011arh.1_Missense_Mutation_p.E167V|BRD1_uc003biu.3_Missense_Mutation_p.E167V	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	167					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ATTGACGATCTCCAGCCAGGC	0.577													A	50217466	T	A	50217466	3	1	94	1	0	0	0	0	1	0	0	0	1501	1551	54	5	2724	5	BRD1	22	50217466	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	3147805	50217466	1087100	3528	62661											
ALG12	79087	broad.mit.edu	37	chr22	50301494	50301494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgccagcaccgtcggcgcGtgcgtccttctgtctaccaa	11	15	2	0	rs147801200	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:50301494G>A	uc003biy.2	-	7	1141	c.867C>T	c.(865-867)CAC>CAT	p.H289H		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	alpha-1,6-mannosyltransferase ALG12	289					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane					0		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CCGTCGGCGCGTGCGTCCTTC	0.617													A	50301494	G	A	50301494	2	1	94	1	0	0	0	0	0	0	0	1	514	1136	40	1		1	ALG12	22	50301494	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	84028	50301494	1003072	3529	62662											
ALG12	79087	broad.mit.edu	37	chr22	50302891	50302891	+	Splice_Site	DEL	C	C	-													tgcacggacactgaaggataCcccccagttggagcttttgt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:50302890_50302890AC>A	uc003biy.3	-	6	1042	c.768_splice	c.e6+1	p.G256_splice		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.	256					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		ACTGAAGGATACCCCCCAGTT	0.572													-	50302891	C	-	50302891	8	5	94	1	0	1	0	1	0	0	1	0	514	521	18	0	717	0	ALG12	22	50302891	Splice_Site	DEL	C	TCGA-BR-8487-01A-11D-2394-08	1397	50302891	1001675	3530	62663											
MOV10L1	54456	broad.mit.edu	37	chr22	50563916	50563916	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaagagtataacatgagCgggatcatcttaagaaggaa	11	5	2	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:50563916C>T	uc003bjj.2	+	11	1748	c.1665C>T	c.(1663-1665)AGC>AGT	p.S555S	MOV10L1_uc003bjk.3_Silent_p.S555S|MOV10L1_uc011arp.1_Silent_p.S535S|MOV10L1_uc011arq.1_Silent_p.S316S|MOV10L1_uc010hao.1_RNA	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	555					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ATAACATGAGCGGGATCATCT	0.463													T	50563916	C	T	50563916	2	4	94	1	0	0	0	0	0	0	0	1	9719	767	27	1		1	MOV10L1	22	50563916	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	261025	50563916	740650	3531	62664											
SAPS2	9701	broad.mit.edu	37	chr22	50876602	50876602	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttggcgttttactctgcaGcccagcgcagctctgtttga	10	13	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:50876602G>A	uc003blb.1	+	19	2262	c.1840_splice	c.e19-1	p.P614_splice	SAPS2_uc003bky.1_Splice_Site_p.P587_splice|SAPS2_uc003bkz.1_Splice_Site_p.P587_splice|SAPS2_uc003blc.2_Splice_Site_p.P614_splice|SAPS2_uc003bla.1_Splice_Site_p.P588_splice|SAPS2_uc003bld.1_Splice_Site_p.P146_splice	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2							cytoplasm|intracellular membrane-bounded organelle	protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.222)		TTACTCTGCAGCCCAGCGCAG	0.592													A	50876602	G	A	50876602	5	1	94	1	0	0	0	0	0	0	1	0	13837	985	34	2	1816	2	SAPS2	22	50876602	Splice_Site	SNP	G	TCGA-BR-8487-01A-11D-2394-08	312686	50876602	427964	3532	62665											
SBF1	6305	broad.mit.edu	37	chr22	50892959	50892959	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctccagcaggcgtgagatGgcgtcaggctgggcccgcgg	17	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:50892959G>T	uc003blh.2	-	36	5220	c.5025C>A	c.(5023-5025)GCC>GCA	p.A1675A	SBF1_uc003ble.2_Silent_p.A139A|SBF1_uc003blf.2_Silent_p.A151A|SBF1_uc011arx.1_Silent_p.A1313A	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1649					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGCGTGAGATGGCGTCAGGCT	0.672													T	50892959	G	T	50892959	2	4	94	1	0	0	0	0	0	0	0	1	13858	1335	47	5		5	SBF1	22	50892959	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	16357	50892959	411607	3533	62666											
SBF1	6305	broad.mit.edu	37	chr22	50893457	50893457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacatacccagctcaatgcGctcatagtcagagtcgagca	8	14	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:50893457G>A	uc003blh.2	-	34	4864	c.4669C>T	c.(4669-4671)CGC>TGC	p.R1557C	SBF1_uc003ble.2_Missense_Mutation_p.R33C|SBF1_uc003blf.2_Missense_Mutation_p.R33C|SBF1_uc011arx.1_Missense_Mutation_p.R1195C	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1531	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		AGCTCAATGCGCTCATAGTCA	0.612													A	50893457	G	A	50893457	3	1	94	1	0	0	0	0	1	0	0	0	13858	1087	38	1	1044	1	SBF1	22	50893457	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	498	50893457	411109	3534	62667											
SBF1	6305	broad.mit.edu	37	chr22	50898756	50898756	+	Frame_Shift_Del	DEL	G	G	-													tggccccggtgctcccagctGggggggttgtacttcttgcg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:50898755_50898755TG>T	uc003blh.3	-	24	3424	c.3229_3229CA>A	c.(3229-3231)agcfs	p.S1077fs	SBF1_uc011arx.2_Frame_Shift_Del_p.S741fs	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1077					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTCCCAGCTGGGGGGGTTG	0.647													-	50898756	G	-	50898756	7	5	94	1	0	1	0	1	0	0	0	0	13858	1335	47	0	2521	0	SBF1	22	50898756	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	5299	50898756	405810	3535	62668											
MIOX	55586	broad.mit.edu	37	chr22	50925882	50925882	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gccaaagacaaggccagcttCcggaactacacggtgagtac	11	12	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:50925882C>A	uc003bll.1	+	2	198	c.84C>A	c.(82-84)TTC>TTA	p.F28L	MIOX_uc003blm.1_Missense_Mutation_p.F28L|MIOX_uc003bln.1_Missense_Mutation_p.F28L	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	28					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity				0		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGCCAGCTTCCGGAACTACA	0.617													A	50925882	C	A	50925882	3	1	94	1	0	0	0	0	1	0	0	0	9590	854	30	5	90	5	MIOX	22	50925882	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	27126	50925882	378684	3536	62669											
LMF2	91289	broad.mit.edu	37	chr22	50943916	50943916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggccagaagcccgtagaCggctagttccagcagcagcg	13	12	0	2	rs116898513	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:50943916C>T	uc003blp.2	-	7	998	c.967G>A	c.(967-969)GTC>ATC	p.V323I	LMF2_uc010hba.2_Missense_Mutation_p.V145I|LMF2_uc003blo.2_Missense_Mutation_p.V298I|NCAPH2_uc003blq.3_5'Flank|NCAPH2_uc003blv.2_5'Flank|NCAPH2_uc003blr.3_5'Flank|NCAPH2_uc010hbb.2_5'Flank|NCAPH2_uc003blu.3_5'Flank|NCAPH2_uc003bls.3_5'Flank|NCAPH2_uc003blt.3_5'Flank|NCAPH2_uc003blw.3_5'Flank|NCAPH2_uc003blx.3_5'Flank|NCAPH2_uc003bly.3_5'Flank	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	323	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane				breast(1)	1		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCCCGTAGACGGCTAGTTCC	0.652													T	50943916	C	T	50943916	3	4	94	1	0	0	0	0	1	0	0	0	8846	536	19	1	1188	1	LMF2	22	50943916	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	18034	50943916	360650	3537	62670											
SHANK3	85358	broad.mit.edu	37	chr22	51117057	51117057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgtccagctgcatagcacGgacaaggtggcacgcctgtt	12	12	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:51117057G>A	uc003bne.1	+	4	384	c.384G>A	c.(382-384)ACG>ACA	p.T128T		NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	128										central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TGCATAGCACGGACAAGGTGG	0.597													A	51117057	G	A	51117057	2	1	94	1	0	0	0	0	0	0	0	1	14266	1103	39	1		1	SHANK3	22	51117057	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	173141	51117057	187509	3538	62671											
PPP2R3B	28227	broad.mit.edu	37	chrX	299352	299352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcacccgtcctcccaggGctctcccgcagtctcctcgg	8	21	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:299352G>A	uc004cpg.2	-	12	1765	c.1564C>T	c.(1564-1566)CCC>TCC	p.P522S	PPP2R3B_uc004cpf.2_Missense_Mutation_p.P123S	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	522					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				tcctcccaGGGCTCTCCCGCA	0.358													A	299352	G	A	299352	3	1	94	1	0	0	0	0	1	0	0	0	12389	1203	42	2	171	2	PPP2R3B	23	299352	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08		299352	154971208	3539	62672											
ASMTL	8623	broad.mit.edu	37	chrX	1522202	1522202	+	Frame_Shift_Del	DEL	C	C	-													ccaagatggcatccaggacaCcccccaagtgcaccacctgc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:1522201_1522201AC>A	uc004cpx.2	-	12	1964	c.1827_1827GT>T	c.(1825-1827)ggtfs	p.G609fs	CRLF2_uc022brt.1_Intron|ASMTL-AS1_uc004cpv.3_Intron|ASMTL-AS1_uc004cpw.3_Intron|ASMTL_uc004cpy.2_Frame_Shift_Del_p.G593fs|ASMTL_uc011mhe.2_Frame_Shift_Del_p.G533fs|ASMTL_uc011mhf.2_Frame_Shift_Del_p.G551fs	NM_004192	NP_001166944	O95671	ASML_HUMAN	Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA.	609	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATCCAGGACACCCCCCAAGT	0.632													-	1522202	C	-	1522202	7	5	94	1	0	1	0	1	0	0	0	0	1046	507	18	0	43	0	ASMTL	23	1522202	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	1222850	1522202	153748358	3540	62673											
ASMTL	8623	broad.mit.edu	37	chrX	1537918	1537918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcgggacagattgaaggcCgtggccacctggcacgcagt	15	11	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:1537918C>T	uc004cpx.1	-	10	1446	c.1335G>A	c.(1333-1335)ACG>ACA	p.T445T	ASMTL_uc011mhe.1_Silent_p.T369T|ASMTL_uc004cpy.1_Silent_p.T429T|ASMTL_uc011mhf.1_Silent_p.T387T	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	445	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GATTGAAGGCCGTGGCCACCT	0.627													T	1537918	C	T	1537918	2	4	94	1	0	0	0	0	0	0	0	1	1046	639	23	1		1	ASMTL	23	1537918	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	15716	1537918	153732642	3541	62674											
P2RY8	286530	broad.mit.edu	37	chrX	1585129	1585129	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcatggtgaggatgctggaaTacatgtttgcgtaaaaggcc	13	6	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:1585129T>A	uc004cpz.2	-	2	571	c.323A>T	c.(322-324)TAT>TTT	p.Y108F		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	108	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GATGCTGGAATACATGTTTGC	0.582			T	CRLF2	B-ALL|Downs associated ALL								A	1585129	T	A	1585129	3	1	94	1	0	0	0	0	1	0	0	0	11355	1406	49	5	760	5	P2RY8	23	1585129	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	47211	1585129	153685431	3542	62675											
SFRS17A	8227	broad.mit.edu	37	chrX	1713017	1713017	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcgaggcctatgtgcagtAccgcgagtacatgggcttca	12	11	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:1713017A>G	uc004cqa.2	+	2	858	c.662A>G	c.(661-663)TAC>TGC	p.Y221C	SFRS17A_uc010ncx.1_Missense_Mutation_p.Y221C|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	221	RRM.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TATGTGCAGTACCGCGAGTAC	0.607													G	1713017	A	G	1713017	3	3	94	1	0	0	0	0	1	0	0	0	14173	391	14	3	664	3	SFRS17A	23	1713017	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	127888	1713017	153557543	3543	62676											
ZBED1	9189	broad.mit.edu	37	chrX	2407120	2407120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagaagatctcggccagCatgttgttgatgacgctggc	14	9	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:2407120C>T	uc004cqg.2	-	2	1842	c.1641G>A	c.(1639-1641)ATG>ATA	p.M547I	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.M547I	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	547						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTCGGCCAGCATGTTGTTGA	0.637													T	2407120	C	T	2407120	3	4	94	1	0	0	0	0	1	0	0	0	17514	710	25	2	447	2	ZBED1	23	2407120	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	694103	2407120	152863440	3544	62677											
ZBED1	9189	broad.mit.edu	37	chrX	2408097	2408097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggacaggcagttgggggCgcccaggcccaggaagtggg	19	10	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:2408097C>T	uc004cqg.2	-	2	865	c.664G>A	c.(664-666)GCC>ACC	p.A222T	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.A222T	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	222						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGTTGGGGGCGCCCAGGCCC	0.647													T	2408097	C	T	2408097	3	4	94	1	0	0	0	0	1	0	0	0	17514	768	27	1	1424	1	ZBED1	23	2408097	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	977	2408097	152862463	3545	62678											
GYG2	8908	broad.mit.edu	37	chrX	2748154	2748154	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctctgctctgcgggttcGtggcgaggaagtccacccac	13	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:2748154G>A	uc004cqs.1	+	2	207	c.-75G>A	c.(-77--73)TCGTG>TCATG		GYG2_uc004cqt.1_Translation_Start_Site|GYG2_uc004cqu.1_Translation_Start_Site|GYG2_uc004cqv.1_Translation_Start_Site|GYG2_uc004cqw.1_Translation_Start_Site	NM_003918	NP_003909	O15488	GLYG2_HUMAN	glycogenin 2 isoform b						glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			ovary(1)|kidney(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGCGGGTTCGTGGCGAGGAA	0.706													A	2748154	G	A	2748154	1	1	94	1	0	0	0	0	0	0	0	0	6906	1160	40	1		1	GYG2	23	2748154	Translation_Start_Site	SNP	G	TCGA-BR-8487-01A-11D-2394-08	340057	2748154	152522406	3546	62679											
NLGN4X	57502	broad.mit.edu	37	chrX	5821127	5821127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgaacgtacccagttttgGcgaagttcgtccagtaggtc	12	9	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:5821127G>A	uc010ndh.2	-	5	2093	c.1592C>T	c.(1591-1593)GCC>GTC	p.A531V	NLGN4X_uc004crp.2_Missense_Mutation_p.A551V|NLGN4X_uc004crq.2_Missense_Mutation_p.A531V|NLGN4X_uc010ndi.2_Missense_Mutation_p.A568V|NLGN4X_uc004crr.2_Missense_Mutation_p.A531V|NLGN4X_uc010ndj.2_Missense_Mutation_p.A531V	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	531	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						CCCAGTTTTGGCGAAGTTCGT	0.512													A	5821127	G	A	5821127	3	1	94	1	0	0	0	0	1	0	0	0	10464	1203	42	2	866	2	NLGN4X	23	5821127	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3072973	5821127	149449433	3547	62680											
STS	412	broad.mit.edu	37	chrX	7177623	7177623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgtctggggctactccacGtgcctctaggcgtttttttc	10	11	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:7177623G>A	uc004cry.3	+	5	876	c.631G>A	c.(631-633)GTG>ATG	p.V211M		NM_000351	NP_000342	P08842	STS_HUMAN	steryl-sulfatase precursor	211	Cytoplasmic.				female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			central_nervous_system(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	GCTACTCCACGTGCCTCTAGG	0.552									Ichthyosis				A	7177623	G	A	7177623	3	1	94	1	0	0	0	0	1	0	0	0	15331	1145	40	1	649	1	STS	23	7177623	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1356496	7177623	148092937	3548	62681											
MSL3	10943	broad.mit.edu	37	chrX	11778981	11778981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacaggaagaaagaagaagCgctgcaggttgcctggtgtg	16	7	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:11778981C>T	uc004cuw.2	+	4	412	c.307C>T	c.(307-309)CGC>TGC	p.R103C	MSL3_uc004cuv.1_Missense_Mutation_p.R103C|MSL3_uc004cux.2_Missense_Mutation_p.R44C|MSL3_uc011mig.1_5'UTR|MSL3_uc011mih.1_Missense_Mutation_p.R91C|MSL3_uc004cuy.2_5'UTR|MSL3_uc011mii.1_5'UTR	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3-like 1 isoform a	103					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AAAGAAGAAGCGCTGCAGGTT	0.398													T	11778981	C	T	11778981	3	4	94	1	0	0	0	0	1	0	0	0	9879	768	27	1	321	1	MSL3	23	11778981	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4601358	11778981	143491579	3549	62682											
TLR8	51311	broad.mit.edu	37	chrX	12937486	12937486	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaacggaaatcccggtatAcaatcaaatggcttgaatat	8	8	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:12937486A>G	uc004cve.2	+	2	395	c.327A>G	c.(325-327)ATA>ATG	p.I109M	TLR8_uc004cvd.2_Missense_Mutation_p.I127M	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	109	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						ATCCCGGTATACAATCAAATG	0.418													G	12937486	A	G	12937486	3	3	94	1	0	0	0	0	1	0	0	0	15954	381	14	3	333	3	TLR8	23	12937486	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1158505	12937486	142333074	3550	62683											
FAM9C	171484	broad.mit.edu	37	chrX	13058956	13058956	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcaatcttttcaatccTttttctctttgcagcaagat	4	9	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:13058956T>G	uc004cvh.1	-	5	460	c.250A>C	c.(250-252)AGG>CGG	p.R84R	FAM9C_uc004cvg.2_Silent_p.R84R	NM_174901	NP_777561	Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	84						nucleus					0						TTTTCAATCCTTTTTCTCTTT	0.294													G	13058956	T	G	13058956	2	3	94	1	0	0	0	0	0	0	0	1	5661	1608	56	5		5	FAM9C	23	13058956	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	121470	13058956	142211604	3551	62684											
PIGA	5277	broad.mit.edu	37	chrX	15349522	15349522	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacaaatgatgtggtttgtAtcacaaagagacacggttag	10	6	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:15349522A>G	uc004cwr.2	-	2	631	c.531T>C	c.(529-531)GAT>GAC	p.D177D	PIGA_uc004cwq.2_Intron|PIGA_uc010nev.2_Intron|PIGA_uc004cws.2_Intron|PIGA_uc011miq.1_Intron|PIGA_uc010new.1_Intron	NM_002641	NP_002632	P37287	PIGA_HUMAN	phosphatidylinositol	177	Cytoplasmic (Potential).				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding				0	Hepatocellular(33;0.183)					TGTGGTTTGTATCACAAAGAG	0.423													G	15349522	A	G	15349522	2	3	94	1	0	0	0	0	0	0	0	1	11884	446	16	3		3	PIGA	23	15349522	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	2290566	15349522	139921038	3552	62685											
RBBP7	5931	broad.mit.edu	37	chrX	16870947	16870947	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttgacttcggcagtgtgCgcatccaccaagtgactcgg	12	12	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:16870947C>T	uc004cxt.2	-	7	1168	c.810G>A	c.(808-810)GCG>GCA	p.A270A	RBBP7_uc004cxs.1_Silent_p.A314A|RBBP7_uc004cxu.2_Silent_p.A261A|RBBP7_uc010nez.2_3'UTR	NM_002893	NP_002884	Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	270					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			upper_aerodigestive_tract(1)|ovary(1)	2	Hepatocellular(33;0.0997)					CGGCAGTGTGCGCATCCACCA	0.502													T	16870947	C	T	16870947	2	4	94	1	0	0	0	0	0	0	0	1	13104	755	27	1		1	RBBP7	23	16870947	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1521425	16870947	138399613	3553	62686											
REPS2	9185	broad.mit.edu	37	chrX	17165605	17165605	+	Frame_Shift_Del	DEL	C	C	-													gtccggtcactgtgttgtgaCccccccatggttcaagtgac							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:17165604_17165604AC>A	uc004cxv.1	+	17	2154	c.1983_1983AC>A	c.(1981-1983)tgafs	p.*661fs	REPS2_uc004cxw.1_Frame_Shift_Del_p.*660fs|REPS2_uc011miw.1_Frame_Shift_Del_p.*459fs	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA.	0					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CTGTGTTGTGACCCCCCCATG	0.418													-	17165605	C	-	17165605	7	5	94	1	0	1	0	1	0	0	0	0	13229	522	18	0	2054	0	REPS2	23	17165605	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	294658	17165605	138104955	3554	62687											
NHS	4810	broad.mit.edu	37	chrX	17743968	17743968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaattaagtgagaggggaaGgtcacgtctgtcccgaatgg	14	7	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:17743968G>A	uc004cxx.2	+	6	2017	c.1679G>A	c.(1678-1680)AGG>AAG	p.R560K	NHS_uc011mix.1_Missense_Mutation_p.R581K|NHS_uc004cxy.2_Missense_Mutation_p.R404K|NHS_uc004cxz.2_Missense_Mutation_p.R383K|NHS_uc004cya.2_Missense_Mutation_p.R283K	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	560						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					GAGAGGGGAAGGTCACGTCTG	0.597													A	17743968	G	A	17743968	3	1	94	1	0	0	0	0	1	0	0	0	10411	1000	35	4	1806	4	NHS	23	17743968	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	578363	17743968	137526592	3555	62688											
NHS	4810	broad.mit.edu	37	chrX	17744389	17744389	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagcaacacaagtgacagTgagtggaattacctacacca	8	10	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:17744389T>C	uc004cxx.2	+	6	2438	c.2100T>C	c.(2098-2100)AGT>AGC	p.S700S	NHS_uc011mix.1_Silent_p.S721S|NHS_uc004cxy.2_Silent_p.S544S|NHS_uc004cxz.2_Silent_p.S523S|NHS_uc004cya.2_Silent_p.S423S	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	700						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					CAAGTGACAGTGAGTGGAATT	0.532													C	17744389	T	C	17744389	2	2	94	1	0	0	0	0	0	0	0	1	10411	1693	59	3		3	NHS	23	17744389	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	421	17744389	137526171	3556	62689											
SH3KBP1	30011	broad.mit.edu	37	chrX	19560215	19560215	+	Frame_Shift_Del	DEL	G	G	-													tgttcccaaagaggatgacaGgggggagggcgccgctgagg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:19560214_19560214AG>A	uc004czm.3	-	15	2037	c.1721_1721CT>T	c.(1720-1722)ctgfs	p.L574fs	SH3KBP1_uc011mje.2_Frame_Shift_Del_p.L313fs|SH3KBP1_uc011mjf.2_Frame_Shift_Del_p.L336fs|SH3KBP1_uc004czl.3_Frame_Shift_Del_p.L537fs|SH3KBP1_uc010nfm.3_Frame_Shift_Del_p.L19fs	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	574					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						AGAGGATGACAGGGGGGAGGG	0.652													-	19560215	G	-	19560215	7	5	94	1	0	1	0	1	0	0	0	0	14255	991	35	0	289	0	SH3KBP1	23	19560215	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	1815826	19560215	135710345	3557	62690											
DDX53	168400	broad.mit.edu	37	chrX	23018420	23018420	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattcgacaaacactaaaatAcagatcataaacggggaatc	6	9	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:23018420A>G	uc004daj.2	+	1	334	c.246A>G	c.(244-246)ATA>ATG	p.I82M		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	82	KH.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			large_intestine(1)|ovary(1)|kidney(1)	3						ACACTAAAATACAGATCATAA	0.353													G	23018420	A	G	23018420	3	3	94	1	0	0	0	0	1	0	0	0	4371	381	14	3	248	3	DDX53	23	23018420	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	3458205	23018420	132252140	3558	62691											
PTCHD1	139411	broad.mit.edu	37	chrX	23411871	23411871	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggtttcatgacattatggAaagtagaactggactgcatt	10	5	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:23411871A>G	uc004dal.3	+	3	2244	c.2236A>G	c.(2236-2238)AAA>GAA	p.K746E		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	746	Helical; (Potential).				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						GACATTATGGAAAGTAGAACT	0.408													G	23411871	A	G	23411871	3	3	94	1	0	0	0	0	1	0	0	0	12732	247	9	3	2246	3	PTCHD1	23	23411871	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	393451	23411871	131858689	3559	62692											
FAM48B1	100130302	broad.mit.edu	37	chrX	24382622	24382622	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcattcaagctagcaggcCctgtccagctgcccagcccc	8	18	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:24382622C>A	uc011mjx.1	+	1	1745	c.1745C>A	c.(1744-1746)CCC>CAC	p.P582H		NM_001136234	NP_001129706			hypothetical protein LOC100130302											kidney(1)	1						GCTAGCAGGCCCTGTCCAGCT	0.428													A	24382622	C	A	24382622	3	1	94	1	0	0	0	0	1	0	0	0	5573	623	22	5	1747	5	FAM48B1	23	24382622	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	970751	24382622	130887938	3560	62693											
ARX	170302	broad.mit.edu	37	chrX	25033798	25033798	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggagagcaaagttggagaTttacttttgcactcgggcct	13	7	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:25033798T>C	uc004dbp.3	-	1	268	c.57A>G	c.(55-57)AAA>AAG	p.K19K		NM_139058	NP_620689	Q96QS3	ARX_HUMAN	aristaless related homeobox	19						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AAGTTGGAGATTTACTTTTGC	0.617													C	25033798	T	C	25033798	2	2	94	1	0	0	0	0	0	0	0	1	1004	1490	52	3		3	ARX	23	25033798	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	651176	25033798	130236762	3561	62694											
NR0B1	190	broad.mit.edu	37	chrX	30326951	30326951	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccccctggcctctgcgcgAagtaggagcggtcccaccac	11	17	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:30326951A>G	uc004dcf.3	-	1	545	c.530T>C	c.(529-531)TTC>TCC	p.F177S		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	177	4 X 67 AA tandem repeats.|3.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)	CCTCTGCGCGAAGTAGGAGCG	0.677											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	30326951	A	G	30326951	3	3	94	1	0	0	0	0	1	0	0	0	10613	246	9	3	890	3	NR0B1	23	30326951	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	5293153	30326951	124943609	3562	62695											
DMD	1756	broad.mit.edu	37	chrX	32490321	32490321	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctccatgatttcatagtcgGtgacactaagttgaggtatg	11	7	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:32490321G>T	uc004dda.1	-	22	3153	c.2909C>A	c.(2908-2910)ACC>AAC	p.T970N	DMD_uc004dcz.2_Missense_Mutation_p.T847N|DMD_uc004dcy.1_Missense_Mutation_p.T966N|DMD_uc004ddb.1_Missense_Mutation_p.T962N|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	970	Spectrin 6.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCATAGTCGGTGACACTAAG	0.448													T	32490321	G	T	32490321	3	4	94	1	0	0	0	0	1	0	0	0	4580	1261	44	5	8623	5	DMD	23	32490321	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2163370	32490321	122780239	3563	62696											
FAM47B	170062	broad.mit.edu	37	chrX	34961384	34961384	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagatatgcctccagatctcCtactacaggtgctgaaacag	8	11	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:34961384C>A	uc004ddi.1	+	1	454	c.436C>A	c.(436-438)CTA>ATA	p.L146I		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	146										ovary(3)|breast(1)	4						TCCAGATCTCCTACTACAGGT	0.572													A	34961384	C	A	34961384	3	1	94	1	0	0	0	0	1	0	0	0	5570	680	24	5	438	5	FAM47B	23	34961384	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2471063	34961384	120309176	3564	62697			2	28		4	4	725	N	C_A	9.641493e-05
FAM47B	170062	broad.mit.edu	37	chrX	34961421	34961421	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagctggatcccgagaggaAgctggaggacgcttgggctc	16	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:34961421A>G	uc004ddi.1	+	1	491	c.473A>G	c.(472-474)AAG>AGG	p.K158R		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	158										ovary(3)|breast(1)	4						CCCGAGAGGAAGCTGGAGGAC	0.572													G	34961421	A	G	34961421	3	3	94	1	0	0	0	0	1	0	0	0	5570	72	3	3	475	3	FAM47B	23	34961421	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	37	34961421	120309139	3565	62698			2	28		4	4	725	N	C_A	9.641493e-05
FAM47B	170062	broad.mit.edu	37	chrX	34961700	34961700	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctcatctccgcgtggatcCtcccgagactggagtgtccc	10	15	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:34961700C>A	uc004ddi.1	+	1	770	c.752C>A	c.(751-753)CCT>CAT	p.P251H		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	251	Pro-rich.									ovary(3)|breast(1)	4						CGCGTGGATCCTCCCGAGACT	0.627													A	34961700	C	A	34961700	3	1	94	1	0	0	0	0	1	0	0	0	5570	681	24	5	754	5	FAM47B	23	34961700	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	279	34961700	120308860	3566	62699			2	28		4	4	725	N	C_A	9.641493e-05
FAM47B	170062	broad.mit.edu	37	chrX	34962108	34962108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatttttgggaatcctgtcCgcggccttttgagagtcgga	12	10	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:34962108C>T	uc004ddi.1	+	1	1178	c.1160C>T	c.(1159-1161)CCG>CTG	p.P387L		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	387										ovary(3)|breast(1)	4						GAATCCTGTCCGCGGCCTTTT	0.572													T	34962108	C	T	34962108	3	4	94	1	0	0	0	0	1	0	0	0	5570	652	23	1	1162	1	FAM47B	23	34962108	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	408	34962108	120308452	3567	62700			2	28		4	4	725	N	C_A	9.641493e-05
FAM47C	442444	broad.mit.edu	37	chrX	37028265	37028265	+	Frame_Shift_Del	DEL	C	C	-													aagactcgggtgtccagtctCcccccggagccccccgagac							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:37028264_37028264TC>T	uc004ddl.2	+	0	1833	c.1781_1781TC>T	c.(1780-1782)ctcfs	p.L594fs		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	594										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTGTCCAGTCTCCCCCCGGAG	0.647													-	37028265	C	-	37028265	7	5	94	1	0	1	0	1	0	0	0	0	5571	842	30	0	1784	0	FAM47C	23	37028265	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	2066157	37028265	118242295	3568	62701											
RPGR	6103	broad.mit.edu	37	chrX	38129019	38129019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctatggattttatctctgGgagcggctcattgttattct	9	8	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:38129019G>A	uc004deb.2	-	19	2476	c.2308C>T	c.(2308-2310)CCA>TCA	p.P770S	RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA	NM_000328	NP_000319	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform A	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						TTTATCTCTGGGAGCGGCTCA	0.358													A	38129019	G	A	38129019	3	1	94	1	0	0	0	0	1	0	0	0	13548	1232	43	4	143	4	RPGR	23	38129019	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1100754	38129019	117141541	3569	62702											
BCOR	54880	broad.mit.edu	37	chrX	39934412	39934412	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccaggccatcgatccTatgggccgtgctcgcatcca	11	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:39934412T>C	uc004den.3	-	4	479	c.187A>G	c.(187-189)AGG>GGG	p.R63G	BCOR_uc004dep.3_Missense_Mutation_p.R63G|BCOR_uc004deo.3_Missense_Mutation_p.R63G|BCOR_uc004dem.3_Missense_Mutation_p.R63G|BCOR_uc004deq.3_Missense_Mutation_p.R63G	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	63					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						CCATCGATCCTATGGGCCGTG	0.562													C	39934412	T	C	39934412	3	2	94	1	0	0	0	0	1	0	0	0	1386	1521	53	3	5128	3	BCOR	23	39934412	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1805393	39934412	115336148	3570	62703											
NYX	60506	broad.mit.edu	37	chrX	41334051	41334051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccgacagcctctcctccCgtggggtgggaggcgcgggc	17	14	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:41334051C>T	uc004dfh.2	+	2	1775	c.1345C>T	c.(1345-1347)CGT>TGT	p.R449C	NYX_uc011mku.1_Missense_Mutation_p.R444C	NM_022567	NP_072089	Q9GZU5	NYX_HUMAN	nyctalopin precursor	449					response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				lung(2)	2						CCTCTCCTCCCGTGGGGTGGG	0.706													T	41334051	C	T	41334051	3	4	94	1	0	0	0	0	1	0	0	0	10797	652	23	1	1351	1	NYX	23	41334051	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1399639	41334051	113936509	3571	62704											
CXorf36	79742	broad.mit.edu	37	chrX	45059991	45059991	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggcaaggagaaagaacaGctcagggctgagacccacag	14	10	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:45059991G>A	uc004dgg.2	-	1	156	c.81C>T	c.(79-81)AGC>AGT	p.S27S	CXorf36_uc004dgi.3_Silent_p.S27S	NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	hypothetical protein LOC79742 isoform 1	27						extracellular region				lung(1)	1						AGAAAGAACAGCTCAGGGCTG	0.597													A	45059991	G	A	45059991	2	1	94	1	0	0	0	0	0	0	0	1	4106	962	34	2		2	CXorf36	23	45059991	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3725940	45059991	110210569	3572	62705											
SLC9A7	84679	broad.mit.edu	37	chrX	46529070	46529070	+	Frame_Shift_Del	DEL	A	A	-													gtggcagagatgattgctccAaaaaagagacaatctgtgta							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:46529069_46529069CA>C	uc004dgu.1	-	4	774	c.766_766TG>G	c.(766-768)ggafs	p.G256fs	SLC9A7_uc004dgv.1_Frame_Shift_Del_p.G256fs	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.	256					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	p.F255fs*11(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						ATGATTGCTCCAAAAAAGAGA	0.343													-	46529070	A	-	46529070	7	5	94	1	0	1	0	1	0	0	0	0	14719	127	5	0	1464	0	SLC9A7	23	46529070	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	1469079	46529070	108741490	3573	62706											
RP2	6102	broad.mit.edu	37	chrX	46712975	46712975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaggtcgcttacctgggaCggtagcaggacaacagtttc	13	9	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:46712975C>T	uc004dgw.3	+	2	356	c.167C>T	c.(166-168)ACG>ATG	p.T56M		NM_006915	NP_008846	O75695	XRP2_HUMAN	XRP2 protein	56	C-CAP/cofactor C-like.				cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding				0						TTACCTGGGACGGTAGCAGGA	0.408													T	46712975	C	T	46712975	3	4	94	1	0	0	0	0	1	0	0	0	13534	536	19	1	173	1	RP2	23	46712975	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	183905	46712975	108557585	3574	62707											
ZNF157	7712	broad.mit.edu	37	chrX	47271825	47271825	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggataatgccctcaggcatgAtaatgaccttcttcaccatc	7	12	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:47271825A>T	uc004dhr.1	+	4	422	c.353A>T	c.(352-354)GAT>GTT	p.D118V		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	118					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CTCAGGCATGATAATGACCTT	0.279													T	47271825	A	T	47271825	3	4	94	1	0	0	0	0	1	0	0	0	17734	333	12	5	367	5	ZNF157	23	47271825	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	558850	47271825	107998735	3575	62708											
ARAF	369	broad.mit.edu	37	chrX	47426415	47426415	+	Frame_Shift_Del	DEL	C	C	-													tagaggaggtagtgatggaaCcccccgggggagccccagcc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:47426415delC	uc011mlq.1	+	9	891	c.758delC	c.(757-759)ACCfs	p.T253fs	ARAF_uc011mln.1_RNA|ARAF_uc011mlo.1_Frame_Shift_Del_p.T119fs|ARAF_uc011mlp.1_Frame_Shift_Del_p.T253fs|ARAF_uc004dic.1_Frame_Shift_Del_p.T34fs	NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	253					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	AGTGATGGAACCCCCCGGGGG	0.652													-	47426415	C	-	47426415	7	5	94	1	0	1	0	1	0	0	0	0	837	507	18	0	788	0	ARAF	23	47426415	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	154590	47426415	107844145	3576	62709											
ARAF	369	broad.mit.edu	37	chrX	47426492	47426492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtcaccagcagagcagCgcgagcggaagtccttggcc	13	14	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:47426492C>T	uc011mlq.1	+	9	968	c.835C>T	c.(835-837)CGC>TGC	p.R279C	ARAF_uc011mln.1_RNA|ARAF_uc011mlo.1_Missense_Mutation_p.R145C|ARAF_uc011mlp.1_Missense_Mutation_p.R279C|ARAF_uc004dic.1_Missense_Mutation_p.R60C	NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	279					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	AGCAGAGCAGCGCGAGCGGAA	0.612													T	47426492	C	T	47426492	3	4	94	1	0	0	0	0	1	0	0	0	837	768	27	1	865	1	ARAF	23	47426492	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	77	47426492	107844068	3577	62710											
CFP	5199	broad.mit.edu	37	chrX	47486574	47486574	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccggtgcacctccgctgCtcgtaggctagccccgggca	14	16	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:47486574C>T	uc004dig.3	-	5	858	c.732G>A	c.(730-732)GAG>GAA	p.E244E	CFP_uc004dih.2_Silent_p.E244E|CFP_uc004dii.1_Silent_p.E180E|CFP_uc010nhu.2_Silent_p.E244E	NM_001145252	NP_001138724	P27918	PROP_HUMAN	complement factor properdin precursor	244	TSP type-1 3.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(2)|lung(1)	3						ACCTCCGCTGCTCGTAGGCTA	0.637													T	47486574	C	T	47486574	2	4	94	1	0	0	0	0	0	0	0	1	3293	796	28	2		2	CFP	23	47486574	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	60082	47486574	107783986	3578	62711											
ZNF81	347344	broad.mit.edu	37	chrX	47775788	47775788	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcatactacagagaagccTtataaatgtcctgactgtga	7	8	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:47775788T>C	uc010nhy.1	+	6	2111	c.1743T>C	c.(1741-1743)CCT>CCC	p.P581P		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	581						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)				CAGAGAAGCCTTATAAATGTC	0.413													C	47775788	T	C	47775788	2	2	94	1	0	0	0	0	0	0	0	1	18171	1596	56	3		3	ZNF81	23	47775788	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	289214	47775788	107494772	3579	62712											
PORCN	64840	broad.mit.edu	37	chrX	48372714	48372714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggccacggccacgttggCgggggctggctttaccgagg	18	12	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:48372714C>T	uc010nie.1	+	9	964	c.806C>T	c.(805-807)GCG>GTG	p.A269V	PORCN_uc004djr.1_Missense_Mutation_p.A264V|PORCN_uc004djs.1_Missense_Mutation_p.A258V|PORCN_uc004djt.1_Missense_Mutation_p.A187V|PORCN_uc011mlx.1_Missense_Mutation_p.A187V|PORCN_uc004dju.1_Missense_Mutation_p.A127V|PORCN_uc004djv.1_Missense_Mutation_p.A269V|PORCN_uc004djw.1_Missense_Mutation_p.A263V	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	porcupine isoform D	269	Helical; (Potential).				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(2)|central_nervous_system(1)	3						GCCACGTTGGCGGGGGCTGGC	0.622													T	48372714	C	T	48372714	3	4	94	1	0	0	0	0	1	0	0	0	12258	768	27	1	836	1	PORCN	23	48372714	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	596926	48372714	106897846	3580	62713											
TBC1D25	4943	broad.mit.edu	37	chrX	48418664	48418664	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccaagtggcagacgctggTtttggtggccacagggggtg	18	8	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:48418664T>C	uc004dka.1	+	6	1479	c.1368T>C	c.(1366-1368)GGT>GGC	p.G456G	TBC1D25_uc011mly.1_Silent_p.G398G|TBC1D25_uc004dkb.1_Silent_p.G202G|TBC1D25_uc011mlz.1_Silent_p.G202G|TBC1D25_uc011mma.1_Silent_p.G202G|TBC1D25_uc004dkc.1_Silent_p.G202G|TBC1D25_uc011mmb.1_Silent_p.G460G|TBC1D25_uc011mmc.1_Silent_p.G202G|TBC1D25_uc011mmd.1_Silent_p.G202G	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	456						intracellular	Rab GTPase activator activity			ovary(1)	1						CAGACGCTGGTTTTGGTGGCC	0.612													C	48418664	T	C	48418664	2	2	94	1	0	0	0	0	0	0	0	1	15612	1712	60	3		3	TBC1D25	23	48418664	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	45950	48418664	106851896	3581	62714											
PQBP1	10084	broad.mit.edu	37	chrX	48758490	48758490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagaggaagagatcattgccGaggactatgacgatgatcct	12	8	1	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:48758490G>A	uc004dle.2	+	3	280	c.91G>A	c.(91-93)GAG>AAG	p.E31K	PQBP1_uc004dlf.2_Missense_Mutation_p.E31K|PQBP1_uc004dlg.2_Missense_Mutation_p.E31K|PQBP1_uc004dld.2_RNA|PQBP1_uc004dlh.2_Missense_Mutation_p.E31K|PQBP1_uc004dli.2_Missense_Mutation_p.E31K|PQBP1_uc004dlj.1_Missense_Mutation_p.E31K|PQBP1_uc004dln.2_Missense_Mutation_p.E31K|PQBP1_uc010nih.2_RNA|PQBP1_uc010nii.2_5'UTR|PQBP1_uc004dlk.2_Missense_Mutation_p.E31K|PQBP1_uc004dll.2_5'UTR|PQBP1_uc004dlm.2_5'UTR|PQBP1_uc010nij.2_Missense_Mutation_p.E31K	NM_001032382	NP_001027554	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity			large_intestine(1)	1						GATCATTGCCGAGGACTATGA	0.552													A	48758490	G	A	48758490	3	1	94	1	0	0	0	0	1	0	0	0	12417	1059	37	1	97	1	PQBP1	23	48758490	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	339826	48758490	106512070	3582	62715											
SLC35A2	7355	broad.mit.edu	37	chrX	48762402	48762402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtacccaaaaaagaaacCacgggtggccacggcggtac	12	11	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:48762402C>T	uc004dlo.1	-	4	788	c.784G>A	c.(784-786)GGT>AGT	p.G262S	SLC35A2_uc011mml.1_Missense_Mutation_p.G275S|SLC35A2_uc004dlp.1_Missense_Mutation_p.G262S|SLC35A2_uc011mmm.1_Missense_Mutation_p.G290S|SLC35A2_uc011mmn.1_Missense_Mutation_p.G201S|SLC35A2_uc004dlr.1_Silent_p.V115V|SLC35A2_uc004dlq.2_Intron	NM_005660	NP_005651	P78381	S35A2_HUMAN	solute carrier family 35, member A2 isoform a	262					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)	1						AAAAAGAAACCACGGGTGGCC	0.627													T	48762402	C	T	48762402	3	4	94	1	0	0	0	0	1	0	0	0	14571	594	21	4	570	4	SLC35A2	23	48762402	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3912	48762402	106508158	3583	62716											
TFE3	7030	broad.mit.edu	37	chrX	48891041	48891041	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtcgttaatgttgaatcGcctgcgacgctcaactttgg	10	11	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:48891041G>A	uc004dmb.3	-	8	1313	c.1075C>T	c.(1075-1077)CGA>TGA	p.R359*	TFE3_uc004dmc.3_Nonsense_Mutation_p.R254*|TFE3_uc004dme.1_RNA	NM_006521	NP_006512	P19532	TFE3_HUMAN	transcription factor E3	359	Basic motif.				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						ATGTTGAATCGCCTGCGACGC	0.532			T	SFPQ|ASPSCR1|PRCC|NONO|CLTC	papillary renal|alveolar soft part sarcoma|renal								A	48891041	G	A	48891041	4	1	94	1	0	0	0	0	0	1	0	0	15797	1095	38	1	664	1	TFE3	23	48891041	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	128639	48891041	106379519	3584	62717											
CCDC120	90060	broad.mit.edu	37	chrX	48921421	48921421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagctgccccctgagtgCccactagagcctggtgaacg	13	15	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:48921421C>T	uc010nik.2	+	5	720	c.213C>T	c.(211-213)TGC>TGT	p.C71C	CCDC120_uc011mmq.1_Silent_p.C59C|CCDC120_uc004dmf.2_Silent_p.C71C|CCDC120_uc010nil.2_Silent_p.C71C|CCDC120_uc011mmr.1_Silent_p.C71C|CCDC120_uc011mms.1_Silent_p.C59C	NM_033626	NP_296375	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120 isoform 3	71							protein binding			pancreas(1)	1						CCCCTGAGTGCCCACTAGAGC	0.642													T	48921421	C	T	48921421	2	4	94	1	0	0	0	0	0	0	0	1	2756	747	26	2		2	CCDC120	23	48921421	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	30380	48921421	106349139	3585	62718											
PRICKLE3	4007	broad.mit.edu	37	chrX	49034431	49034431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctctgacgcatgacatagCgctgccctcctagtgaagct	11	13	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:49034431C>T	uc004dmy.1	-	7	892	c.866G>A	c.(865-867)CGC>CAC	p.R289H	PRICKLE3_uc011mmv.1_Missense_Mutation_p.R221H|PRICKLE3_uc011mmw.1_Missense_Mutation_p.R208H|PRICKLE3_uc011mmx.1_Missense_Mutation_p.R251H|PRICKLE3_uc011mmy.1_Missense_Mutation_p.R276H	NM_006150	NP_006141	O43900	PRIC3_HUMAN	LIM domain only 6	289	LIM zinc-binding 2.						protein binding|zinc ion binding			breast(1)	1						CATGACATAGCGCTGCCCTCC	0.617													T	49034431	C	T	49034431	3	4	94	1	0	0	0	0	1	0	0	0	12488	768	27	1	993	1	PRICKLE3	23	49034431	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	113010	49034431	106236129	3586	62719											
PRICKLE3	4007	broad.mit.edu	37	chrX	49036124	49036124	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgacgtaggggaccttgTcctctgggaggcagctgaaa	15	8	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:49036124T>C	uc004dmy.1	-	4	370	c.344A>G	c.(343-345)GAC>GGC	p.D115G	PRICKLE3_uc011mmv.1_Missense_Mutation_p.D47G|PRICKLE3_uc011mmw.1_Intron|PRICKLE3_uc011mmx.1_Intron|PRICKLE3_uc011mmy.1_Intron	NM_006150	NP_006141	O43900	PRIC3_HUMAN	LIM domain only 6	115	PET.						protein binding|zinc ion binding			breast(1)	1						GGGGACCTTGTCCTCTGGGAG	0.532													C	49036124	T	C	49036124	3	2	94	1	0	0	0	0	1	0	0	0	12488	1667	58	3	1527	3	PRICKLE3	23	49036124	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1693	49036124	106234436	3587	62720											
SYP	6855	broad.mit.edu	37	chrX	49050714	49050714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagaggaaggcaaacacgGccacggtgacaaagaattcg	13	8	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:49050714G>A	uc004dmz.1	-	4	348	c.332C>T	c.(331-333)GCC>GTC	p.A111V	SYP_uc011mmz.1_5'UTR|SYP_uc004dna.1_Missense_Mutation_p.A105V	NM_003179	NP_003170	P08247	SYPH_HUMAN	synaptophysin	111	MARVEL.|Helical; (Potential).				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(315;0.00016)				GGCAAACACGGCCACGGTGAC	0.557													A	49050714	G	A	49050714	3	1	94	1	0	0	0	0	1	0	0	0	15458	1203	42	2	621	2	SYP	23	49050714	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	14590	49050714	106219846	3588	62721											
TSPYL2	64061	broad.mit.edu	37	chrX	53112245	53112245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatgaggagcagcaggaggCggcggcggcggcggaggagg	24	7	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:53112245C>T	uc004drw.2	+	1	697	c.565C>T	c.(565-567)CGG>TGG	p.R189W	TSPYL2_uc004drv.2_Missense_Mutation_p.R189W|TSPYL2_uc004drx.1_5'Flank	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	189	Arg-rich.				cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding				0						cagcaggaggcggcggcggcg	0.254													T	53112245	C	T	53112245	3	4	94	1	0	0	0	0	1	0	0	0	16657	759	27	1	567	1	TSPYL2	23	53112245	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	4061531	53112245	102158315	3589	62722											
KDM5C	8242	broad.mit.edu	37	chrX	53245079	53245079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctccaggaaggtcttaggCgatgttgactccaccttcac	9	13	3	1	rs61751238		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:53245079C>T	uc004drz.2	-	7	1394	c.861G>A	c.(859-861)TCG>TCA	p.S287S	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Silent_p.S220S|KDM5C_uc004dsa.2_Silent_p.S286S	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	287					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						AGGTCTTAGGCGATGTTGACT	0.557			N|F|S		clear cell renal carcinoma								T	53245079	C	T	53245079	2	4	94	1	0	0	0	0	0	0	0	1	8135	755	27	1		1	KDM5C	23	53245079	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	132834	53245079	102025481	3590	62723											
HUWE1	10075	broad.mit.edu	37	chrX	53574768	53574768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagtagggggtgtgggcGtggtggaggcggcagtggtg	25	4	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:53574768G>A	uc004dsp.2	-	68	10904	c.10502C>T	c.(10501-10503)ACG>ATG	p.T3501M	HUWE1_uc004dsn.2_Missense_Mutation_p.T2309M	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3501	Thr-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GGGTGTGGGCgtggtggaggc	0.418													A	53574768	G	A	53574768	3	1	94	1	0	0	0	0	1	0	0	0	7461	1145	40	1	2690	1	HUWE1	23	53574768	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	329689	53574768	101695792	3591	62724											
HUWE1	10075	broad.mit.edu	37	chrX	53581651	53581651	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcttccccacttggccTtgtgggacccaattcctctg	8	15	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:53581651T>G	uc004dsp.2	-	61	8839	c.8437A>C	c.(8437-8439)AGG>CGG	p.R2813R	HUWE1_uc004dsn.2_Silent_p.R1637R	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2813					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CCACTTGGCCTTGTGGGACCC	0.512													G	53581651	T	G	53581651	2	3	94	1	0	0	0	0	0	0	0	1	7461	1608	56	5		5	HUWE1	23	53581651	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	6883	53581651	101688909	3592	62725											
HUWE1	10075	broad.mit.edu	37	chrX	53588851	53588851	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcagagccatcgtcgtcaTcgtcttcatctccctcttca	5	16	7	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:53588851T>C	uc004dsp.2	-	55	7775	c.7373A>G	c.(7372-7374)GAT>GGT	p.D2458G	HUWE1_uc004dsn.2_Missense_Mutation_p.D1282G	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2458	Asp-rich.|Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						ATCGTCGTCATCGTCTTCATC	0.493													C	53588851	T	C	53588851	3	2	94	1	0	0	0	0	1	0	0	0	7461	1435	50	3	5871	3	HUWE1	23	53588851	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	7200	53588851	101681709	3593	62726											
HUWE1	10075	broad.mit.edu	37	chrX	53652155	53652155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaagcagggtcttggatGgccttcttgaggaaattcaa	13	6	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:53652155G>A	uc004dsp.2	-	18	1956	c.1554C>T	c.(1552-1554)GCC>GCT	p.A518A		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	518					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GGTCTTGGATGGCCTTCTTGA	0.398													A	53652155	G	A	53652155	2	1	94	1	0	0	0	0	0	0	0	1	7461	1335	47	4		4	HUWE1	23	53652155	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	63304	53652155	101618405	3594	62727											
WNK3	65267	broad.mit.edu	37	chrX	54263764	54263764	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttgtcaccttgtttgggaActcctttattttctttacag	7	8	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:54263764A>G	uc004dtd.1	-	20	4533	c.4094T>C	c.(4093-4095)GTT>GCT	p.V1365A	WNK3_uc004dtc.1_Missense_Mutation_p.V1412A	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1365					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						TTGTTTGGGAACTCCTTTATT	0.393													G	54263764	A	G	54263764	3	3	94	1	0	0	0	0	1	0	0	0	17376	43	2	3	1187	3	WNK3	23	54263764	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	611609	54263764	101006796	3595	62728											
USP51	158880	broad.mit.edu	37	chrX	55515144	55515144	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccttctcgtcgccgccgcTgctgctccacgtcaagttct	8	18	3	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:55515144T>C	uc004dun.1	-	2	308	c.229A>G	c.(229-231)AGC>GGC	p.S77G	USP51_uc011moo.1_Missense_Mutation_p.S22G	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	77					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						TCGCCGCCGCTGCTGCTCCAC	0.577													C	55515144	T	C	55515144	3	2	94	1	0	0	0	0	1	0	0	0	17080	1580	55	3	1910	3	USP51	23	55515144	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1251380	55515144	99755416	3596	62729											
VSIG4	11326	broad.mit.edu	37	chrX	65253607	65253607	+	Frame_Shift_Del	DEL	A	A	-													ttgcagggggtcataggtgcAgggaagattcacatcccctt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:65253606_65253606CA>C	uc004dwh.2	-	1	249	c.122_122TG>G	c.(121-123)tgcfs	p.C41fs	VSIG4_uc004dwi.2_Frame_Shift_Del_p.C41fs|VSIG4_uc004dwj.3_Frame_Shift_Del_p.C41fs|VSIG4_uc011moy.2_Frame_Shift_Del_p.C41fs	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 4 (VSIG4), transcript variant 1, mRNA.	41	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding	p.C41Y(2)|p.P40P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTCATAGGTGCAGGGAAGATT	0.537													-	65253607	A	-	65253607	7	5	94	1	0	1	0	1	0	0	0	0	17222	188	7	0	1110	0	VSIG4	23	65253607	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	9738463	65253607	90016953	3597	62730											
HEPH	9843	broad.mit.edu	37	chrX	65409636	65409636	+	Frame_Shift_Del	DEL	T	T	-													aaattgatgtccacacagcaTttttccatggacagatgctg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:65409636delT	uc011moz.1	+	6	988	c.928delT	c.(928-930)TTTfs	p.F310fs	HEPH_uc004dwn.2_Frame_Shift_Del_p.F310fs|HEPH_uc004dwo.2_Frame_Shift_Del_p.F40fs|HEPH_uc010nkr.2_Frame_Shift_Del_p.F310fs|HEPH_uc011mpa.1_Frame_Shift_Del_p.F310fs	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	307	Extracellular (Potential).|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						CCACACAGCATTTTTCCATGG	0.493													-	65409636	T	-	65409636	7	5	94	1	0	1	0	1	0	0	0	0	7054	1493	52	0	1103	0	HEPH	23	65409636	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	156029	65409636	89860924	3598	62731											
OPHN1	4983	broad.mit.edu	37	chrX	67272396	67272396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttaccttcctgttttccgGgaagctgtttcaaaaaacct	6	11	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:67272396G>A	uc004dww.3	-	23	2655	c.2361C>T	c.(2359-2361)TCC>TCT	p.S787S	OPHN1_uc011mpg.1_Silent_p.S679S	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	787					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2						CTGTTTTCCGGGAAGCTGTTT	0.428													A	67272396	G	A	67272396	2	1	94	1	0	0	0	0	0	0	0	1	10875	1219	43	4		4	OPHN1	23	67272396	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1862760	67272396	87998164	3599	62732											
PJA1	64219	broad.mit.edu	37	chrX	68382257	68382257	+	Frame_Shift_Del	DEL	A	A	-													tcgtcatcatcatcagtatcAaaaaaaatttttggtttcac					rs145254709		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:68382256_68382256CA>C	uc022byl.1	-	0	826	c.826_826TG>G	c.(826-828)gatfs	p.D276fs	PJA1_uc004dxg.3_Intron|PJA1_uc004dxh.3_Frame_Shift_Del_p.D276fs|PJA1_uc004dxi.3_Frame_Shift_Del_p.D221fs|PJA1_uc011mpi.2_5'UTR	NM_001032396	NP_001027568	Q8NG27	PJA1_HUMAN	Homo sapiens praja ring finger 1 (PJA1), transcript variant 2, mRNA.	276	Poly-Asp.						zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TCATCAGTATCAAAAAAAATT	0.493													-	68382257	A	-	68382257	7	5	94	1	0	1	0	1	0	0	0	0	11961	127	5	0	1110	0	PJA1	23	68382257	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	1109861	68382257	86888303	3600	62733											
FAM155B	27112	broad.mit.edu	37	chrX	68725613	68725614	+	Frame_Shift_Ins	INS	-	-	C													ttcgaaccgactactccggcINScccccctctgcggccccctg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:68725612_68725613G>GC	uc004dxk.3	+	0	535_536	c.487_488G>GC	c.(487-489)gccfs	p.A163fs		NM_015686	NP_056501	O75949	F155B_HUMAN	Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA.	163						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GACTACTCCGGCCCCCCCTCTG	0.624													C	68725614	-	C	68725613	7	5	94	1	0	1	1	0	0	0	0	0	5466	739	26	0	490	0	FAM155B	23	68725613	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	343356	68725613	86544947	3601	62734											
P2RY4	5030	broad.mit.edu	37	chrX	69478418	69478418	+	Frame_Shift_Del	DEL	G	G	-													agtagagcagctactgtcctGgggggtggccgcccacctgc					rs149121464	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:69478417_69478417TG>T	uc004dxz.1	-	0	1238	c.1058_1058CA>A	c.(1057-1059)cagfs	p.Q353fs		NM_002565	NP_002556	P51582	P2RY4_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 4 (P2RY4), mRNA.	353					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GCTACTGTCCTGGGGGGTGGC	0.627													-	69478418	G	-	69478418	7	5	94	1	0	1	0	1	0	0	0	0	11353	1357	47	0	44	0	P2RY4	23	69478418	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	752805	69478418	85792142	3602	62735											
P2RY4	5030	broad.mit.edu	37	chrX	69478840	69478840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacaagagtgaccaggcagGgcacgccaaagagcagcccc	12	13	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:69478840G>A	uc004dxz.1	-	1	815	c.635C>T	c.(634-636)CCC>CTC	p.P212L		NM_002565	NP_002556	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y4	212	Helical; Name=5; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)	1						GACCAGGCAGGGCACGCCAAA	0.597													A	69478840	G	A	69478840	3	1	94	1	0	0	0	0	1	0	0	0	11353	1232	43	4	466	4	P2RY4	23	69478840	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	422	69478840	85791720	3603	62736											
FOXO4	4303	broad.mit.edu	37	chrX	70320819	70320819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcccttgctctcgaaacCgtgaagaagccgatatgtgg	12	11	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:70320819C>T	uc004dys.1	+	2	1092	c.739C>T	c.(739-741)CGT>TGT	p.R247C	FOXO4_uc010nkz.2_Missense_Mutation_p.R247C|FOXO4_uc004dyt.1_Missense_Mutation_p.R192C	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	247					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(2)|prostate(1)	3	Renal(35;0.156)					CTCTCGAAACCGTGAAGAAGC	0.592											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	70320819	C	T	70320819	3	4	94	1	0	0	0	0	1	0	0	0	6025	652	23	1	745	1	FOXO4	23	70320819	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	841979	70320819	84949741	3604	62737											
FOXO4	4303	broad.mit.edu	37	chrX	70321313	70321313	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagtaagctggccacgggCgtcggcctgtgtcccaagcc	13	15	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:70321313C>T	uc004dys.1	+	2	1586	c.1233C>T	c.(1231-1233)GGC>GGT	p.G411G	FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Silent_p.G356G	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	411					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(2)|prostate(1)	3	Renal(35;0.156)					TGGCCACGGGCGTCGGCCTGT	0.617													T	70321313	C	T	70321313	2	4	94	1	0	0	0	0	0	0	0	1	6025	755	27	1		1	FOXO4	23	70321313	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	494	70321313	84949247	3605	62738											
NLGN3	54413	broad.mit.edu	37	chrX	70389595	70389595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgctgccctctactaccGtaaggacaaacggcgccagg	10	15	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:70389595G>A	uc004dzb.2	+	7	2439	c.2135G>A	c.(2134-2136)CGT>CAT	p.R712H	NLGN3_uc004dzc.2_Missense_Mutation_p.R595H|NLGN3_uc011mps.1_Missense_Mutation_p.R692H|NLGN3_uc004dze.2_Missense_Mutation_p.R530H	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	732	Cytoplasmic (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)					CTCTACTACCGTAAGGACAAA	0.642													A	70389595	G	A	70389595	3	1	94	1	0	0	0	0	1	0	0	0	10463	1145	40	1	2221	1	NLGN3	23	70389595	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	68282	70389595	84880965	3606	62739											
NONO	4841	broad.mit.edu	37	chrX	70517750	70517750	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaagaagaaatgatgcggCgacagcaggaaggattcaag	14	6	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:70517750C>T	uc004dzo.2	+	10	1803	c.1093C>T	c.(1093-1095)CGA>TGA	p.R365*	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Nonsense_Mutation_p.R365*|NONO_uc004dzp.2_Nonsense_Mutation_p.R365*|NONO_uc011mpv.1_Nonsense_Mutation_p.R276*|NONO_uc004dzq.2_Nonsense_Mutation_p.R234*	NM_001145408	NP_001138880	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	365	Potential.|DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	ovary(2)|kidney(2)	4	Renal(35;0.156)					AATGATGCGGCGACAGCAGGA	0.522			T	TFE3	papillary renal cancer								T	70517750	C	T	70517750	4	4	94	1	0	0	0	0	0	1	0	0	10534	760	27	1	1119	1	NONO	23	70517750	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	128155	70517750	84752810	3607	62740											
RLIM	51132	broad.mit.edu	37	chrX	73812036	73812036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggttctcacacctgcccGctcagaacgtgaaaatgtac	8	12	2	2	rs61754467		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:73812036G>A	uc004ebu.2	-	5	1404	c.1114C>T	c.(1114-1116)CGG>TGG	p.R372W	RLIM_uc004ebw.2_Missense_Mutation_p.R372W	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	372					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						ACACCTGCCCGCTCAGAACGT	0.443													A	73812036	G	A	73812036	3	1	94	1	0	0	0	0	1	0	0	0	13390	1086	38	1	764	1	RLIM	23	73812036	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	3294286	73812036	81458524	3608	62741											
ATP7A	538	broad.mit.edu	37	chrX	77266709	77266709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttctttggtcaagaaggatCggtcagcaagtcacttagat	10	8	4	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:77266709C>T	uc004ecx.3	+	8	2066	c.1906C>T	c.(1906-1908)CGG>TGG	p.R636W	ATP7A_uc004ecw.2_3'UTR	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	636	Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						CAAGAAGGATCGGTCAGCAAG	0.299													T	77266709	C	T	77266709	3	4	94	1	0	0	0	0	1	0	0	0	1190	875	31	1	1932	1	ATP7A	23	77266709	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	3454673	77266709	78003851	3609	62742											
ATP7A	538	broad.mit.edu	37	chrX	77284891	77284891	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgggtacaggagtaggtgctCaaaatggcatactaataaaa	11	5	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:77284891C>T	uc004ecx.3	+	15	3221	c.3061C>T	c.(3061-3063)CAA>TAA	p.Q1021*		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1021	Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						AGTAGGTGCTCAAAATGGCAT	0.468													T	77284891	C	T	77284891	4	4	94	1	0	0	0	0	0	1	0	0	1190	827	29	4	3115	4	ATP7A	23	77284891	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	18182	77284891	77985669	3610	62743											
CYSLTR1	10800	broad.mit.edu	37	chrX	77528573	77528573	+	Frame_Shift_Del	DEL	T	T	-													cctttttatgacttgacagaTtttttttcattgattttttt							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:77528573delT	uc004edb.2	-	3	1071	c.671delA	c.(670-672)AATfs	p.N224fs	CYSLTR1_uc010nma.2_Frame_Shift_Del_p.N224fs|CYSLTR1_uc010nmb.2_Frame_Shift_Del_p.N224fs	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	224	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			ovary(1)	1					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	ACTTGACAGATTTTTTTTCAT	0.328													-	77528573	T	-	77528573	7	5	94	1	0	1	0	1	0	0	0	0	4201	1493	52	0	346	0	CYSLTR1	23	77528573	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	243682	77528573	77741987	3611	62744											
BRWD3	254065	broad.mit.edu	37	chrX	80001091	80001091	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaattcttctcccgcttcGgtcaaatgctacacagtaga	6	11	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:80001091G>A	uc004edt.2	-	7	831	c.568C>T	c.(568-570)CGA>TGA	p.R190*	BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Nonsense_Mutation_p.R19*|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_Intron|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	190	WD 2.									ovary(4)	4						CTCCCGCTTCGGTCAAATGCT	0.378													A	80001091	G	A	80001091	4	1	94	1	0	0	0	0	0	1	0	0	1526	1124	39	1	4980	1	BRWD3	23	80001091	Nonsense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	2472518	80001091	75269469	3612	62745											
SH3BGRL	6451	broad.mit.edu	37	chrX	80457739	80457739	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatcttcctctggctctAcagcggtaaggagagtgggg	14	9	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:80457739A>G	uc004eef.2	+	1	437	c.40A>G	c.(40-42)ACA>GCA	p.T14A	SH3BGRL_uc011mqs.1_RNA|SH3BGRL_uc010nml.2_RNA|SH3BGRL_uc010nmm.2_5'UTR|SH3BGRL_uc010nmn.2_5'Flank|HMGN5_uc004eee.1_5'Flank	NM_003022	NP_003013	O75368	SH3L1_HUMAN	SH3 domain binding glutamic acid-rich protein	14						cytoplasm|nucleus	SH3 domain binding|SH3/SH2 adaptor activity			ovary(1)	1		all_lung(315;5.94e-05)				CTCTGGCTCTACAGCGGTAAG	0.527													G	80457739	A	G	80457739	3	3	94	1	0	0	0	0	1	0	0	0	14241	391	14	3	42	3	SH3BGRL	23	80457739	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	456648	80457739	74812821	3613	62746											
POU3F4	5456	broad.mit.edu	37	chrX	82763837	82763837	+	Frame_Shift_Del	DEL	C	C	-													tgcacccggtgctccgagagCccccggatcacggcgaactg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:82763837delC	uc004eeg.2	+	1	569	c.505delC	c.(505-507)CCCfs	p.P169fs		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	169					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCTCCGAGAGCCCCCGGATCA	0.632													-	82763837	C	-	82763837	7	5	94	1	0	1	0	1	0	0	0	0	12277	739	26	0	507	0	POU3F4	23	82763837	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	2306098	82763837	72506723	3614	62747											
PABPC5	140886	broad.mit.edu	37	chrX	90690639	90690639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatctcaaggccgctctgtaCgtgggtgacttggacccaga	12	11	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:90690639C>T	uc004efg.2	+	2	503	c.63C>T	c.(61-63)TAC>TAT	p.Y21Y	PABPC5_uc004eff.1_Intron	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	21	RRM 1.					cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3						CCGCTCTGTACGTGGGTGACT	0.547													T	90690639	C	T	90690639	2	4	94	1	0	0	0	0	0	0	0	1	11367	547	19	1		1	PABPC5	23	90690639	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	7926802	90690639	64579921	3615	62748											
PCDH11X	27328	broad.mit.edu	37	chrX	91132510	91132510	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggagactgcagcatatcTtgactatgagtccacaaaag	9	10	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:91132510T>C	uc004efk.1	+	2	2116	c.1271T>C	c.(1270-1272)CTT>CCT	p.L424P	PCDH11X_uc004efl.1_Missense_Mutation_p.L424P|PCDH11X_uc004efo.1_Missense_Mutation_p.L424P|PCDH11X_uc010nmv.1_Missense_Mutation_p.L424P|PCDH11X_uc004efm.1_Missense_Mutation_p.L424P|PCDH11X_uc004efn.1_Missense_Mutation_p.L424P|PCDH11X_uc004efh.1_Missense_Mutation_p.L424P|PCDH11X_uc004efj.1_Missense_Mutation_p.L424P	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	424	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						GCAGCATATCTTGACTATGAG	0.423													C	91132510	T	C	91132510	3	2	94	1	0	0	0	0	1	0	0	0	11508	1609	56	3	1277	3	PCDH11X	23	91132510	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	441871	91132510	64138050	3616	62749											
RPA4	29935	broad.mit.edu	37	chrX	96140046	96140046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattatctgaccgttgaggGccacatctatcccactgtgg	10	11	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:96140046G>A	uc004efv.3	+	1	1035	c.737G>A	c.(736-738)GGC>GAC	p.G246D	DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	replication protein A4, 34kDa	246					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding				0						ACCGTTGAGGGCCACATCTAT	0.512								Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	96140046	G	A	96140046	3	1	94	1	0	0	0	0	1	0	0	0	13539	1203	42	2	739	2	RPA4	23	96140046	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	5007536	96140046	59130514	3617	62750											
SYTL4	94121	broad.mit.edu	37	chrX	99942204	99942204	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagatgttcccgaaatcaccAgcttcactgtagatgctcat	7	11	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:99942204A>G	uc004egd.3	-	13	1400	c.1044T>C	c.(1042-1044)GCT>GCC	p.A348A	SYTL4_uc010nnb.2_Silent_p.A20A|SYTL4_uc010nnc.2_Silent_p.A348A|SYTL4_uc004ege.3_Silent_p.A348A|SYTL4_uc004egf.3_Silent_p.A348A|SYTL4_uc004egg.3_3'UTR	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	348					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			ovary(2)	2					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGAAATCACCAGCTTCACTGT	0.522													G	99942204	A	G	99942204	2	3	94	1	0	0	0	0	0	0	0	1	15482	175	7	3		3	SYTL4	23	99942204	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	3802158	99942204	55328356	3618	62751											
CSTF2	1478	broad.mit.edu	37	chrX	100077249	100077249	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctctccagattggtataCgatagagagacaggaaagcc	11	9	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:100077249C>T	uc004egh.2	+	3	205	c.147C>T	c.(145-147)TAC>TAT	p.Y49Y	CSTF2_uc010nnd.2_Silent_p.Y49Y|CSTF2_uc004egi.2_Silent_p.Y49Y	NM_001325	NP_001316	P33240	CSTF2_HUMAN	cleavage stimulation factor subunit 2	49	RRM.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding			skin(1)	1						GATTGGTATACGATAGAGAGA	0.468													T	100077249	C	T	100077249	2	4	94	1	0	0	0	0	0	0	0	1	3984	547	19	1		1	CSTF2	23	100077249	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	135045	100077249	55193311	3619	62752											
XKRX	402415	broad.mit.edu	37	chrX	100183088	100183088	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acataaagaaagaaaaggtgTatgtcatccagtaagtttca	8	5	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:100183088T>C	uc004egn.2	-	1	811	c.206A>G	c.(205-207)TAC>TGC	p.Y69C	XKRX_uc011mre.1_Translation_Start_Site	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	69	Helical; (Potential).					integral to membrane|plasma membrane				breast(1)	1						AGAAAAGGTGTATGTCATCCA	0.383													C	100183088	T	C	100183088	3	2	94	1	0	0	0	0	1	0	0	0	17436	1638	57	3	1155	3	XKRX	23	100183088	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	105839	100183088	55087472	3620	62753											
BTK	695	broad.mit.edu	37	chrX	100613407	100613407	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacacacaacataatgacgTatcaccccttgagggtccct	7	13	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:100613407T>C	uc004ehg.2	-	12	1186	c.993A>G	c.(991-993)ATA>ATG	p.I331M	BTK_uc004ehf.2_Translation_Start_Site|BTK_uc010nnh.2_RNA|BTK_uc010nni.2_RNA|BTK_uc004ehe.2_RNA|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_RNA|BTK_uc010nnl.2_Translation_Start_Site|BTK_uc010nnm.2_Translation_Start_Site|BTK_uc010nnn.2_Missense_Mutation_p.I331M|BTK_uc010nno.2_Missense_Mutation_p.I365M|BTK_uc004ehh.1_RNA|BTK_uc004ehi.2_Missense_Mutation_p.I331M	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	331	SH2.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			lung(3)|central_nervous_system(2)|ovary(1)	6						CATAATGACGTATCACCCCTT	0.473									Agammaglobulinemia_X-linked				C	100613407	T	C	100613407	3	2	94	1	0	0	0	0	1	0	0	0	1557	1628	57	3	1018	3	BTK	23	100613407	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	430319	100613407	54657153	3621	62754											
GLA	2717	broad.mit.edu	37	chrX	100653081	100653081	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgttcccacacttcaaagtTgtctccctgaaaaaccaaga	5	13	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:100653081T>C	uc004ehl.1	-	7	1116	c.1006A>G	c.(1006-1008)AAC>GAC	p.N336D		NM_000169	NP_000160	P06280	AGAL_HUMAN	alpha-galactosidase A precursor	336					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding				0					Agalsidase beta(DB00103)	ACTTCAAAGTTGTCTCCCTGA	0.463													C	100653081	T	C	100653081	3	2	94	1	0	0	0	0	1	0	0	0	6426	1812	63	3	287	3	GLA	23	100653081	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	39674	100653081	54617479	3622	62755											
GPRASP1	9737	broad.mit.edu	37	chrX	101911431	101911431	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggagtcggctttgagTcaaagcctgggactgaggag	17	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:101911431T>A	uc004ejj.3	+	5	3391	c.2590T>A	c.(2590-2592)TCA>ACA	p.S864T	GPRASP1_uc004eji.3_Missense_Mutation_p.S864T|GPRASP1_uc010nod.2_Missense_Mutation_p.S864T	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	864	Glu-rich.					cytoplasm	protein binding			ovary(1)|lung(1)	2						CGGCTTTGAGTCAAAGCCTGG	0.517													A	101911431	T	A	101911431	3	1	94	1	0	0	0	0	1	0	0	0	6722	1667	58	5	2592	5	GPRASP1	23	101911431	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1258350	101911431	53359129	3623	62756											
GPRASP2	114928	broad.mit.edu	37	chrX	101970978	101970978	+	Frame_Shift_Del	DEL	A	A	-													tgggtcctggttctgggcagAaaaagaggccagtttggagg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:101970978delA	uc004ejk.2	+	4	2515	c.1181delA	c.(1180-1182)GAAfs	p.E394fs	GPRASP2_uc004ejl.2_Frame_Shift_Del_p.E394fs|GPRASP2_uc004ejm.2_Frame_Shift_Del_p.E394fs|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	394						cytoplasm	protein binding			ovary(1)	1						TTCTGGGCAGAAAAAGAGGCC	0.532													-	101970978	A	-	101970978	7	5	94	1	0	1	0	1	0	0	0	0	6723	246	9	0	1183	0	GPRASP2	23	101970978	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	59547	101970978	53299582	3624	62757											
RAB40A	142684	broad.mit.edu	37	chrX	102755236	102755236	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgacctcaaagaaggtcAcacccaggcgctcggcgtag	13	13	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:102755236A>G	uc004ekk.2	-	3	791	c.449T>C	c.(448-450)GTG>GCG	p.V150A		NM_080879	NP_543155	Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	150					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0						AAAGAAGGTCACACCCAGGCG	0.577													G	102755236	A	G	102755236	3	3	94	1	0	0	0	0	1	0	0	0	12939	159	6	3	388	3	RAB40A	23	102755236	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	784258	102755236	52515324	3625	62758											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104512145	104512145	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgatccaagaagttcaagaAgaagatggaggaaattacac	10	6	1	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:104512145A>G	uc004elz.1	+	5	1374	c.618A>G	c.(616-618)GAA>GAG	p.E206E		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	206	Ig-like C2-type 2.|Extracellular (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						AAGTTCAAGAAGAAGATGGAG	0.338													G	104512145	A	G	104512145	2	3	94	1	0	0	0	0	0	0	0	1	7662	69	3	3		3	IL1RAPL2	23	104512145	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	1756909	104512145	50758415	3626	62759											
NRK	203447	broad.mit.edu	37	chrX	105150563	105150564	+	Frame_Shift_Ins	INS	-	-	A													ggcatcttactggaatcattINSaaaaaaagacagaaaaaagg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:105150563_105150564insA	uc004emd.2	+	11	1305_1306	c.1002_1003insA	c.(1000-1005)ATTAAAfs	p.I334fs	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	334_335							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						CTGGAATCATTAAAAAAAGACA	0.307										HNSCC(51;0.14)			A	105150564	-	A	105150563	7	5	94	1	0	1	1	0	0	0	0	0	10655	1742	61	0	1044	0	NRK	23	105150563	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	638418	105150563	50119997	3627	62760											
CLDN2	9075	broad.mit.edu	37	chrX	106171828	106171828	+	Frame_Shift_Del	DEL	T	T	-													tggcggtagcaggtggagtcTttttcatccttggaggcctc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:106171827_106171827CT>C	uc022ccd.1	+	0	369	c.369_369CT>C	c.(367-369)gtcfs	p.V123fs	MORC4_uc004emp.4_Intron|CLDN2_uc004emq.1_Frame_Shift_Del_p.V123fs|CLDN2_uc022ccc.1_Frame_Shift_Del_p.V123fs|CLDN2_uc004emt.2_Frame_Shift_Del_p.V123fs	NM_020384	NP_065117	P57739	CLD2_HUMAN	Homo sapiens claudin 2 (CLDN2), transcript variant 1, mRNA.	123					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CAGGTGGAGTCTTTTTCATCC	0.542													-	106171828	T	-	106171828	7	5	94	1	0	1	0	1	0	0	0	0	3481	1609	56	0	372	0	CLDN2	23	106171828	Frame_Shift_Del	DEL	T	TCGA-BR-8487-01A-11D-2394-08	1021265	106171828	49098732	3628	62761											
GUCY2F	2986	broad.mit.edu	37	chrX	108708521	108708521	+	Frame_Shift_Del	DEL	G	G	-													ttgttccttaggacccggtaGggggtgtgcttataaggtaa							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:108708521delG	uc004eod.3	-	3	1158	c.882delC	c.(880-882)CCCfs	p.P294fs	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	294	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						GGACCCGGTAGGGGGTGTGCT	0.463													-	108708521	G	-	108708521	7	5	94	1	0	1	0	1	0	0	0	0	6898	987	35	0	2512	0	GUCY2F	23	108708521	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	2536693	108708521	46562039	3629	62762											
ALG13	79868	broad.mit.edu	37	chrX	110951411	110951411	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgttactgctacccatccTacctgcaccctgctttttcc	4	17	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:110951411T>C	uc011msy.1	+	4	574	c.540T>C	c.(538-540)CCT>CCC	p.P180P	ALG13_uc011msw.1_Silent_p.P102P|ALG13_uc011msx.1_Silent_p.P76P|ALG13_uc011msz.1_Silent_p.P102P|ALG13_uc011mta.1_Silent_p.P76P|ALG13_uc011mtb.1_Silent_p.P76P			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	180					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1						CTACCCATCCTACCTGCACCC	0.498													C	110951411	T	C	110951411	2	2	94	1	0	0	0	0	0	0	0	1	515	1509	53	3		3	ALG13	23	110951411	Silent	SNP	T	TCGA-BR-8487-01A-11D-2394-08	2242890	110951411	44319149	3630	62763											
TRPC5	7224	broad.mit.edu	37	chrX	111078168	111078168	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcaataagctgataggagTtgttcatcatagcaatcagc	10	8	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:111078168T>C	uc004epl.1	-	7	2796	c.1877A>G	c.(1876-1878)AAC>AGC	p.N626S	TRPC5_uc004epm.1_Missense_Mutation_p.N626S	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	626	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						CTGATAGGAGTTGTTCATCAT	0.443													C	111078168	T	C	111078168	3	2	94	1	0	0	0	0	1	0	0	0	16579	1725	60	3	1064	3	TRPC5	23	111078168	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	126757	111078168	44192392	3631	62764											
TRPC5	7224	broad.mit.edu	37	chrX	111195437	111195437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcaatgagcagggcactcCggcccaaggggtccatgcag	15	12	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:111195437C>T	uc004epl.1	-	2	1131	c.212G>A	c.(211-213)CGG>CAG	p.R71Q	TRPC5_uc004epm.1_Missense_Mutation_p.R71Q	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	71	ANK 2.|Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						CAGGGCACTCCGGCCCAAGGG	0.517													T	111195437	C	T	111195437	3	4	94	1	0	0	0	0	1	0	0	0	16579	652	23	1	2749	1	TRPC5	23	111195437	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	117269	111195437	44075123	3632	62765											
HTR2C	3358	broad.mit.edu	37	chrX	114141413	114141413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtgctgcaagaggaataCggccgaggaagagaactctg	15	7	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:114141413C>T	uc004epu.1	+	6	1540	c.812C>T	c.(811-813)ACG>ATG	p.T271M	HTR2C_uc010nqc.1_Missense_Mutation_p.T271M|HTR2C_uc004epv.1_Silent_p.Y239Y	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	271	Cytoplasmic (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	AAGAGGAATACGGCCGAGGAA	0.537													T	114141413	C	T	114141413	3	4	94	1	0	0	0	0	1	0	0	0	7443	536	19	1	826	1	HTR2C	23	114141413	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	2945976	114141413	41129147	3633	62766											
DOCK11	139818	broad.mit.edu	37	chrX	117732047	117732047	+	Frame_Shift_Del	DEL	A	A	-													caaagcctttgttgaagattAaaagccacttagaatctacc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:117732046_117732046TA>T	uc004eqp.2	+	21	2502	c.2439_2439TA>T	c.(2437-2439)attfs	p.I813fs	DOCK11_uc004eqq.2_Frame_Shift_Del_p.I579fs	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	813	DHR-1.		I -> F (in dbSNP:rs16995229).		blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGTTGAAGATTAAAAGCCACT	0.303													-	117732047	A	-	117732047	7	5	94	1	0	1	0	1	0	0	0	0	4686	363	13	0	2526	0	DOCK11	23	117732047	Frame_Shift_Del	DEL	A	TCGA-BR-8487-01A-11D-2394-08	3590634	117732047	37538513	3634	62767											
ZCCHC12	170261	broad.mit.edu	37	chrX	117959764	117959764	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttaggcggtgagctgagtaGggacctccgactcagactta	13	9	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:117959764G>T	uc004equ.2	+	4	1030	c.557G>T	c.(556-558)AGG>ATG	p.R186M		NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			ovary(1)	1						GAGCTGAGTAGGGACCTCCGA	0.303													T	117959764	G	T	117959764	3	4	94	1	0	0	0	0	1	0	0	0	17578	1000	35	5	559	5	ZCCHC12	23	117959764	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	227717	117959764	37310796	3635	62768											
SEPT6	23157	broad.mit.edu	37	chrX	118763453	118763453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgcagtttcttcagacGgtcaaacttctcgtgcagct	10	11	4	1	rs150468538		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:118763453G>A	uc004erv.2	-	9	1373	c.1108C>T	c.(1108-1110)CGT>TGT	p.R370C	SEPT6_uc010nqk.2_RNA|SEPT6_uc004ers.2_Missense_Mutation_p.R370C|SEPT6_uc004ert.2_Missense_Mutation_p.R370C|SEPT6_uc004eru.2_Missense_Mutation_p.R370C|SEPT6_uc004erw.2_Missense_Mutation_p.R312C|SEPT6_uc011mtv.1_Missense_Mutation_p.R312C|SEPT6_uc011mtw.1_Missense_Mutation_p.R400C	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	septin 6 isoform B	370	Potential.				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			lung(1)|ovary(1)|prostate(1)|kidney(1)	4						TTCTTCAGACGGTCAAACTTC	0.542													A	118763453	G	A	118763453	3	1	94	1	0	0	0	0	1	0	0	0	14068	1116	39	1	226	1	SEPT6	23	118763453	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	803689	118763453	36507107	3636	62769											
FAM70A	55026	broad.mit.edu	37	chrX	119394855	119394855	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcatcagaaagtccagagGgaggggaggatggaaagaca	16	6	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:119394855G>T	uc004eso.3	-	10	1147	c.920C>A	c.(919-921)CCC>CAC	p.P307H	FAM70A_uc004esp.3_Missense_Mutation_p.P283H|FAM70A_uc010nqo.2_Missense_Mutation_p.P199H	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	hypothetical protein LOC55026 isoform 1	307	Pro-rich.					integral to membrane				lung(1)|breast(1)	2						AAGTCCAGAGGGAGGGGAGGA	0.493													T	119394855	G	T	119394855	3	4	94	1	0	0	0	0	1	0	0	0	5605	1232	43	5	133	5	FAM70A	23	119394855	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	631402	119394855	35875705	3637	62770											
LAMP2	3920	broad.mit.edu	37	chrX	119575705	119575705	+	Frame_Shift_Del	DEL	G	G	-													gcacatataagaacttcccaGgggggcatcccagtagctga							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:119575704_119575704AG>A	uc004ess.4	-	7	1154	c.974_974CT>T	c.(973-975)ctgfs	p.L325fs	LAMP2_uc004est.4_Frame_Shift_Del_p.L325fs|LAMP2_uc011mtz.2_Frame_Shift_Del_p.L214fs|LAMP2_uc011mua.1_Frame_Shift_Del_p.L278fs|LAMP2_uc010nqp.1_Frame_Shift_Del_p.L325fs	NM_001122606	NP_001116078	P13473	LAMP2_HUMAN	Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant C, mRNA.	325	Second lumenal domain.			DAPLG -> MPP (in Ref. 1; AAA60383).	platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						AGAACTTCCCAGGGGGGCATC	0.388													-	119575705	G	-	119575705	7	5	94	1	0	1	0	1	0	0	0	0	8618	991	35	0	558	0	LAMP2	23	119575705	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	180850	119575705	35694855	3638	62771											
CUL4B	8450	broad.mit.edu	37	chrX	119674406	119674406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggattaattacaatagtGctgccaaatgcctaaaacaa	6	8	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:119674406G>A	uc004esw.2	-	13	1946	c.1509C>T	c.(1507-1509)AGC>AGT	p.S503S	CUL4B_uc010nqq.2_Silent_p.S202S|CUL4B_uc004esv.2_Silent_p.S485S	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	cullin 4B isoform 1	503					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3						TTACAATAGTGCTGCCAAATG	0.294													A	119674406	G	A	119674406	2	1	94	1	0	0	0	0	0	0	0	1	4058	1310	46	2		2	CUL4B	23	119674406	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	98701	119674406	35596154	3639	62772											
THOC2	57187	broad.mit.edu	37	chrX	122755187	122755187	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attttgattctgcgttggggAcagtggtcttaaatttctca	10	6	3	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:122755187A>G	uc004etu.2	-	31	4069	c.4037T>C	c.(4036-4038)GTC>GCC	p.V1346A	THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_Missense_Mutation_p.V167A	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	1346	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						TGCGTTGGGGACAGTGGTCTT	0.378													G	122755187	A	G	122755187	3	3	94	1	0	0	0	0	1	0	0	0	15862	275	10	3	776	3	THOC2	23	122755187	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	3080781	122755187	32515373	3640	62773											
ODZ1	10178	broad.mit.edu	37	chrX	123805641	123805641	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccatttgcatacagctctcCttcaactggttgcaactgcc	6	14	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:123805641C>A	uc004euj.2	-	6	1124	c.1060G>T	c.(1060-1062)GGA>TGA	p.G354*	ODZ1_uc011muj.1_Nonsense_Mutation_p.G353*|ODZ1_uc010nqy.2_Nonsense_Mutation_p.G354*	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	354	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TACAGCTCTCCTTCAACTGGT	0.448													A	123805641	C	A	123805641	4	1	94	1	0	0	0	0	0	1	0	0	10834	690	24	5	7246	5	ODZ1	23	123805641	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1050454	123805641	31464919	3641	62774											
BCORL1	63035	broad.mit.edu	37	chrX	129190011	129190012	+	Frame_Shift_Ins	INS	-	-	C													ggaggcttggacgacagatcINSccccccaggctcctctgaga					rs137862942		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:129190010_129190011T>TC	uc022cdu.1	+	11	5079_5080	c.5035_5036T>TC	c.(5035-5037)tccfs	p.S1679fs	BCORL1_uc004evc.2_Frame_Shift_Ins_p.S515fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1679					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGACGACAGATCCCCCCCAGGC	0.604													C	129190012	-	C	129190011	7	5	94	1	0	1	1	0	0	0	0	0	1387	855	30	0	5308	0	BCORL1	23	129190011	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	5384370	129190011	26080549	3642	62775											
ELF4	2000	broad.mit.edu	37	chrX	129203502	129203502	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtactggcagaggccacAgaggccgtggaggcctgagg	19	9	0	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:129203502A>C	uc004evd.3	-	8	1345	c.960T>G	c.(958-960)TCT>TCG	p.S320S	ELF4_uc004eve.3_Silent_p.S320S	NM_001421	NP_001412	Q99607	ELF4_HUMAN	E74-like factor 4	320					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CAGAGGCCACAGAGGCCGTGG	0.592			T	ERG	AML								C	129203502	A	C	129203502	2	2	94	1	0	0	0	0	0	0	0	1	5056	175	7	5		5	ELF4	23	129203502	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	13491	129203502	26067058	3643	62776											
IGSF1	3547	broad.mit.edu	37	chrX	130409637	130409637	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccttctttgtgcagaatgTatcctactccatggaccggc	8	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:130409637T>C	uc004ewd.2	-	16	3237	c.2999A>G	c.(2998-3000)TAC>TGC	p.Y1000C	IGSF1_uc004ewe.3_Missense_Mutation_p.Y994C|IGSF1_uc004ewf.2_Missense_Mutation_p.Y980C	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	1000	Extracellular (Potential).|Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						GTGCAGAATGTATCCTACTCC	0.517													C	130409637	T	C	130409637	3	2	94	1	0	0	0	0	1	0	0	0	7596	1638	57	3	1031	3	IGSF1	23	130409637	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	1206135	130409637	24860923	3644	62777											
HS6ST2	90161	broad.mit.edu	37	chrX	132090883	132090883	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccgtccaccacggagggCacacagctggtgagctcggt	14	13	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:132090883C>T	uc011mve.1	-	3	1316	c.900G>A	c.(898-900)GTG>GTA	p.V300V	HS6ST2_uc011mvb.1_Silent_p.V154V|HS6ST2_uc011mvc.1_Silent_p.V154V|HS6ST2_uc011mvd.1_Silent_p.V300V	NM_147175	NP_671704	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2 isoform	300	Lumenal (Potential).					integral to membrane	sulfotransferase activity				0	Acute lymphoblastic leukemia(192;0.000127)					CCACGGAGGGCACACAGCTGG	0.711													T	132090883	C	T	132090883	2	4	94	1	0	0	0	0	0	0	0	1	7371	697	25	2		2	HS6ST2	23	132090883	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1681246	132090883	23179677	3645	62778											
HS6ST2	90161	broad.mit.edu	37	chrX	132090966	132090966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaagagccaggtttcccGcttacccggccggtggcaag	15	12	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:132090966G>A	uc011mve.1	-	3	1233	c.817C>T	c.(817-819)CGG>TGG	p.R273W	HS6ST2_uc011mvb.1_Missense_Mutation_p.R127W|HS6ST2_uc011mvc.1_Missense_Mutation_p.R127W|HS6ST2_uc011mvd.1_Missense_Mutation_p.R273W	NM_147175	NP_671704	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2 isoform	273	Lumenal (Potential).					integral to membrane	sulfotransferase activity				0	Acute lymphoblastic leukemia(192;0.000127)					CAGGTTTCCCGCTTACCCGGC	0.652													A	132090966	G	A	132090966	3	1	94	1	0	0	0	0	1	0	0	0	7371	1086	38	1	1136	1	HS6ST2	23	132090966	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	83	132090966	23179594	3646	62779											
USP26	83844	broad.mit.edu	37	chrX	132161217	132161217	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatctttaaaaaaaagtagCcgtgccaagcacatggtaag	9	7	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:132161217C>T	uc010nrm.1	-	6	1502	c.1032G>A	c.(1030-1032)CGG>CGA	p.R344R	USP26_uc011mvf.1_Silent_p.R344R	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	344					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					AAAAAAGTAGCCGTGCCAAGC	0.378													T	132161217	C	T	132161217	2	4	94	1	0	0	0	0	0	0	0	1	17054	726	26	2		2	USP26	23	132161217	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	70251	132161217	23109343	3647	62780											
MOSPD1	56180	broad.mit.edu	37	chrX	134030951	134030951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgatgggagaagagtaGcaacaacctcttttcttccc	9	10	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:134030951G>A	uc004eyb.2	-	4	531	c.344C>T	c.(343-345)GCT>GTT	p.A115V	MOSPD1_uc004eya.2_Missense_Mutation_p.A115V|MOSPD1_uc010nrv.2_RNA|MOSPD1_uc011mvr.1_Missense_Mutation_p.A115V	NM_019556	NP_062456	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1	115	MSP.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(192;0.000127)					GAGAAGAGTAGCAACAACCTC	0.388													A	134030951	G	A	134030951	3	1	94	1	0	0	0	0	1	0	0	0	9715	971	34	2	309	2	MOSPD1	23	134030951	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1869734	134030951	21239609	3648	62781											
SAGE1	55511	broad.mit.edu	37	chrX	134990644	134990644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggtttctagatgctaccGtcaatcaccatgtccatgaa	7	10	3	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:134990644G>A	uc004ezh.2	+	12	1476	c.1309G>A	c.(1309-1311)GTC>ATC	p.V437I	SAGE1_uc010nry.1_Missense_Mutation_p.V406I|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	437										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					AGATGCTACCGTCAATCACCA	0.423													A	134990644	G	A	134990644	3	1	94	1	0	0	0	0	1	0	0	0	13809	1145	40	1	1351	1	SAGE1	23	134990644	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	959693	134990644	20279916	3649	62782											
SLC9A6	10479	broad.mit.edu	37	chrX	135067951	135067951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaagcaccgccgggcccGcttcctgcacgaaaccggcc	10	19	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:135067951G>A	uc004ezj.2	+	1	366	c.290G>A	c.(289-291)CGC>CAC	p.R97H	SLC9A6_uc004ezk.2_Missense_Mutation_p.R97H|SLC9A6_uc011mvx.1_Missense_Mutation_p.R45H	NM_006359	NP_006350	Q92581	SL9A6_HUMAN	solute carrier family 9 (sodium/hydrogen	97					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					CGCCGGGCCCGCTTCCTGCAC	0.617													A	135067951	G	A	135067951	3	1	94	1	0	0	0	0	1	0	0	0	14718	1087	38	1	292	1	SLC9A6	23	135067951	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	77307	135067951	20202609	3650	62783											
FHL1	2273	broad.mit.edu	37	chrX	135291440	135291440	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtgagccacccagtctctAaagctaggaagcccccagtg	11	13	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:135291440A>G	uc004ezo.2	+	6	827	c.727A>G	c.(727-729)AAA>GAA	p.K243E	FHL1_uc010nrz.2_Intron|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Intron|FHL1_uc004ezq.2_Intron|FHL1_uc011mvy.1_Intron|FHL1_uc011mvz.1_Intron|FHL1_uc004ezn.2_Intron|FHL1_uc011mwa.1_Intron|FHL1_uc011mwb.1_Intron|FHL1_uc004ezp.2_Intron|FHL1_uc004ezr.2_Intron	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	four and a half LIM domains 1 isoform 1	243					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)					CCCAGTCTCTAAAGCTAGGAA	0.557											OREG0019943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	135291440	A	G	135291440	3	3	94	1	0	0	0	0	1	0	0	0	5878	363	13	3	862	3	FHL1	23	135291440	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	223489	135291440	19979120	3651	62784											
MAP7D3	79649	broad.mit.edu	37	chrX	135301782	135301782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtggtgttggtttcatcCgcctttctggttttcgttgt	12	8	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:135301782C>T	uc004ezt.2	-	17	2626	c.2535G>A	c.(2533-2535)GCG>GCA	p.A845A	MAP7D3_uc004ezs.2_Silent_p.A809A|MAP7D3_uc011mwc.1_Silent_p.A827A|MAP7D3_uc010nsa.1_Silent_p.A803A	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	845						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TGGTTTCATCCGCCTTTCTGG	0.428													T	135301782	C	T	135301782	2	4	94	1	0	0	0	0	0	0	0	1	9269	639	23	1		1	MAP7D3	23	135301782	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	10342	135301782	19968778	3652	62785											
MAP7D3	79649	broad.mit.edu	37	chrX	135314194	135314194	+	Frame_Shift_Del	DEL	G	G	-													gaatacttccacattcacctGggggggtgcatccacacttg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:135314193_135314193TG>T	uc004ezt.3	-	7	1144	c.923_923CA>A	c.(922-924)cagfs	p.Q308fs	MAP7D3_uc004ezs.3_Frame_Shift_Del_p.Q273fs|MAP7D3_uc011mwc.2_Frame_Shift_Del_p.Q290fs|MAP7D3_uc010nsa.2_Frame_Shift_Del_p.Q266fs	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGC	0.537													-	135314194	G	-	135314194	7	5	94	1	0	1	0	1	0	0	0	0	9269	1357	47	0	1752	0	MAP7D3	23	135314194	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	12412	135314194	19956366	3653	62786											
GPR112	139378	broad.mit.edu	37	chrX	135429336	135429336	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacaacattcctcctgcgtcCtccactcatgtgatctcaac	5	16	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:135429336C>A	uc004ezu.1	+	6	3762	c.3471C>A	c.(3469-3471)TCC>TCA	p.S1157S	GPR112_uc010nsb.1_Silent_p.S952S|GPR112_uc010nsc.1_Silent_p.S924S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1157	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					CTCCTGCGTCCTCCACTCATG	0.468													A	135429336	C	A	135429336	2	1	94	1	0	0	0	0	0	0	0	1	6629	668	24	5		5	GPR112	23	135429336	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	115142	135429336	19841224	3654	62787											
ARHGEF6	9459	broad.mit.edu	37	chrX	135761761	135761761	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagacaacttaaactccacGgttttataatttgaggaggc	9	7	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:135761761G>T	uc004fab.2	-	16	2225	c.1763C>A	c.(1762-1764)CCG>CAG	p.P588Q	ARHGEF6_uc011mwd.1_Missense_Mutation_p.P461Q|ARHGEF6_uc011mwe.1_Missense_Mutation_p.P434Q	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	588					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					TAAACTCCACGGTTTTATAAT	0.448													T	135761761	G	T	135761761	3	4	94	1	0	0	0	0	1	0	0	0	910	1116	39	5	595	5	ARHGEF6	23	135761761	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	332425	135761761	19508799	3655	62788											
RBMX	27316	broad.mit.edu	37	chrX	135956372	135956372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacctcttggtgctccgcGgcttgaactgctgtaggaat	11	12	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:135956372G>A	uc004fae.1	-	9	1315	c.1105C>T	c.(1105-1107)CGC>TGC	p.R369C	RBMX_uc004fac.1_5'Flank|RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_3'UTR|RBMX_uc011mwg.1_Missense_Mutation_p.R330C|RBMX_uc004faf.1_Missense_Mutation_p.R230C|RBMX_uc010nsf.1_Missense_Mutation_p.R330C|RBMX_uc004fag.1_Missense_Mutation_p.R241C	NM_002139	NP_002130	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked isoform 1	369						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					GGTGCTCCGCGGCTTGAACTG	0.542													A	135956372	G	A	135956372	3	1	94	1	0	0	0	0	1	0	0	0	13151	1116	39	1	129	1	RBMX	23	135956372	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	194611	135956372	19314188	3656	62789											
ZIC3	7547	broad.mit.edu	37	chrX	136649419	136649419	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtccacctggggctgcgtgGggagctgttcggccgtgctg	19	11	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:136649419G>T	uc004fak.2	+	1	1074	c.569G>T	c.(568-570)GGG>GTG	p.G190V		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	190					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GGGCTGCGTGGGGAGCTGTTC	0.677													T	136649419	G	T	136649419	3	4	94	1	0	0	0	0	1	0	0	0	17677	1232	43	5	571	5	ZIC3	23	136649419	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	693047	136649419	18621141	3657	62790											
FGF13	2258	broad.mit.edu	37	chrX	137793157	137793157	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagcgagctggcgatagcCgccgccatggccacgacgcc	14	15	0	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:137793157C>T	uc004fam.2	-	1	671	c.9G>A	c.(7-9)GCG>GCA	p.A3A	FGF13_uc004fan.2_Intron|FGF13_uc011mwi.1_Intron|FGF13_uc004faq.2_Intron|FGF13_uc004far.2_Intron|FGF13_uc011mwj.1_Intron|FGF13_uc011mwk.1_Intron|uc004fao.2_5'Flank	NM_004114	NP_004105	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 1	3					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					TGGCGATAGCCGCCGCCATGG	0.642													T	137793157	C	T	137793157	2	4	94	1	0	0	0	0	0	0	0	1	5842	639	23	1		1	FGF13	23	137793157	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	1143738	137793157	17477403	3658	62791											
F9	2158	broad.mit.edu	37	chrX	138644209	138644209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtatgtcaactggattaaGgaaaaaacaaagctcactta	8	7	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:138644209G>A	uc004fas.1	+	8	1394	c.1365G>A	c.(1363-1365)AAG>AAA	p.K455K	F9_uc004fat.1_Silent_p.K417K	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein	455	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	ACTGGATTAAGGAAAAAACAA	0.368													A	138644209	G	A	138644209	2	1	94	1	0	0	0	0	0	0	0	1	5351	991	35	4		4	F9	23	138644209	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	851052	138644209	16626351	3659	62792											
ATP11C	286410	broad.mit.edu	37	chrX	138882248	138882248	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcctcaagactattactgtaGatattgattcgcccaacaaa	6	10	1	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:138882248G>T	uc004faz.2	-	8	789	c.690C>A	c.(688-690)ATC>ATA	p.I230I	ATP11C_uc004fay.2_5'Flank|ATP11C_uc004fba.2_Silent_p.I230I	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	230	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					TATTACTGTAGATATTGATTC	0.363													T	138882248	G	T	138882248	2	4	94	1	0	0	0	0	0	0	0	1	1121	932	33	5		5	ATP11C	23	138882248	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	238039	138882248	16388312	3660	62793											
CDR1	1038	broad.mit.edu	37	chrX	139866586	139866586	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcttccaactaagctacGtcttccaacaaatccatgtc	4	13	2	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:139866586G>A	uc004fbg.1	-	1	138	c.-54C>T	c.(-56--52)GACGT>GATGT			NM_004065	NP_004056	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1,												0	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				ACTAAGCTACGTCTTCCAACA	0.463													A	139866586	G	A	139866586	1	1	94	1	0	0	0	0	0	0	0	0	3171	1160	40	1		1	CDR1	23	139866586	Translation_Start_Site	SNP	G	TCGA-BR-8487-01A-11D-2394-08	984338	139866586	15403974	3661	62794											
AFF2	2334	broad.mit.edu	37	chrX	147733536	147733536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtcactatgaacaagacCgtagtgcacttaaaaaaagg	8	8	2	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:147733536C>T	uc004fcp.2	+	2	543	c.64C>T	c.(64-66)CGT>TGT	p.R22C	AFF2_uc004fco.2_Missense_Mutation_p.R22C|AFF2_uc004fcq.2_Missense_Mutation_p.R22C|AFF2_uc004fcr.2_Missense_Mutation_p.R22C|AFF2_uc011mxb.1_Missense_Mutation_p.R22C|AFF2_uc004fcs.2_Missense_Mutation_p.R22C	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	22					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TGAACAAGACCGTAGTGCACT	0.358													T	147733536	C	T	147733536	3	4	94	1	0	0	0	0	1	0	0	0	357	652	23	1	70	1	AFF2	23	147733536	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	7866950	147733536	7537024	3662	62795											
AFF2	2334	broad.mit.edu	37	chrX	147744087	147744087	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttactgcaaaacaagcaTggggcagcaaaagccaactg	10	10	0	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:147744087T>C	uc004fcp.2	+	3	1318	c.839T>C	c.(838-840)ATG>ACG	p.M280T	AFF2_uc004fco.2_Missense_Mutation_p.M276T|AFF2_uc004fcq.2_Missense_Mutation_p.M276T|AFF2_uc004fcr.2_Missense_Mutation_p.M276T|AFF2_uc011mxb.1_Missense_Mutation_p.M280T|AFF2_uc004fcs.2_Missense_Mutation_p.M276T	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	280					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					AAAACAAGCATGGGGCAGCAA	0.512													C	147744087	T	C	147744087	3	2	94	1	0	0	0	0	1	0	0	0	357	1464	51	3	849	3	AFF2	23	147744087	Missense_Mutation	SNP	T	TCGA-BR-8487-01A-11D-2394-08	10551	147744087	7526473	3663	62796											
AFF2	2334	broad.mit.edu	37	chrX	147967422	147967422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgatctctttgtaggatGcttgaggatgacctgaagct	11	8	2	4			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:147967422G>A	uc004fcp.2	+	8	1745	c.1266G>A	c.(1264-1266)ATG>ATA	p.M422I	AFF2_uc004fco.2_Missense_Mutation_p.M383I|AFF2_uc004fcq.2_Missense_Mutation_p.M412I|AFF2_uc004fcr.2_Missense_Mutation_p.M383I|AFF2_uc011mxb.1_Missense_Mutation_p.M387I|AFF2_uc004fcs.2_Missense_Mutation_p.M389I|AFF2_uc011mxc.1_Missense_Mutation_p.M63I	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	422					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTAGGATGCTTGAGGATG	0.438													A	147967422	G	A	147967422	3	1	94	1	0	0	0	0	1	0	0	0	357	1319	46	2	1351	2	AFF2	23	147967422	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	223335	147967422	7303138	3664	62797											
MTM1	4534	broad.mit.edu	37	chrX	149818188	149818188	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatttcatgttgtttcttaGgcaacaggaggaggatatga	12	4	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:149818188G>A	uc004fef.3	+	10	944	c.868_splice	c.e10-1	p.A290_splice	MTM1_uc011mxx.1_Splice_Site|MTM1_uc011mxy.1_Splice_Site_p.A253_splice|MTM1_uc011mxz.1_Splice_Site_p.A175_splice|MTM1_uc010nte.2_Splice_Site_p.A158_splice	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin						endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TTGTTTCTTAGGCAACAGGAG	0.323													A	149818188	G	A	149818188	5	1	94	1	0	0	0	0	0	0	1	0	9937	1014	35	4	901	4	MTM1	23	149818188	Splice_Site	SNP	G	TCGA-BR-8487-01A-11D-2394-08	1850766	149818188	5452372	3665	62798											
MTMR1	8776	broad.mit.edu	37	chrX	149905188	149905188	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attaaaagagattgtgtaccCttcgatcgatgaggcgcggt	12	7	0	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:149905188C>A	uc004fei.2	+	10	1313	c.1178C>A	c.(1177-1179)CCT>CAT	p.P393H	MTMR1_uc011mya.1_Missense_Mutation_p.P299H|MTMR1_uc004feh.1_Missense_Mutation_p.P401H|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_Intron	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	393	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGTGTACCCTTCGATCGAT	0.443													A	149905188	C	A	149905188	3	1	94	1	0	0	0	0	1	0	0	0	9938	681	24	5	1216	5	MTMR1	23	149905188	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	87000	149905188	5365372	3666	62799											
MTMR1	8776	broad.mit.edu	37	chrX	149912872	149912872	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaccatgcggatgctgacCgatctcccatatttctgcag	8	13	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:149912872C>T	uc004fei.2	+	12	1624	c.1489C>T	c.(1489-1491)CGA>TGA	p.R497*	MTMR1_uc011mya.1_Nonsense_Mutation_p.R403*|MTMR1_uc004feh.1_Nonsense_Mutation_p.R505*|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_RNA	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	497	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					GGATGCTGACCGATCTCCCAT	0.378													T	149912872	C	T	149912872	4	4	94	1	0	0	0	0	0	1	0	0	9938	644	23	1	1535	1	MTMR1	23	149912872	Nonsense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	7684	149912872	5357688	3667	62800											
HMGB3	3149	broad.mit.edu	37	chrX	150156358	150156359	+	In_Frame_Ins	INS	-	-	GAG													agaagaggaggaggaagaagINSaggaggaggaggaggaggag							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:150156357_150156358A>AGAG	uc004fep.3	+	4	665_666	c.573_574A>AGAG	c.(571-576)gaagag>gaAGAGag	p.191_192EE>EE	HMGB3_uc004feq.3_3'UTR|HMGB3_uc004fer.3_In_Frame_Ins_p.191_192EE>EE	NM_005342	NP_005333	O15347	HMGB3_HUMAN	Homo sapiens high mobility group box 3 (HMGB3), mRNA.	191	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaagaagaggaggagga	0.446													GAG	150156359	-	GAG	150156358	7	5	94	1	0	1	1	0	0	0	0	0	7227	943	33	0	588	0	HMGB3	23	150156358	In_Frame_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	243486	150156358	5114202	3668	62801											
GPR50	9248	broad.mit.edu	37	chrX	150345219	150345219	+	Frame_Shift_Del	DEL	C	C	-													gcccaccctagcggttcccaCcccctatggctgtattggct							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:150345218_150345218AC>A	uc010ntg.2	+	0	163	c.25_25AC>A	c.(25-27)accfs	p.T9fs	GPR50_uc011myc.2_Frame_Shift_Del_p.T9fs	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	9					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					AGCGGTTCCCACCCCCTATGG	0.547													-	150345219	C	-	150345219	7	5	94	1	0	1	0	1	0	0	0	0	6697	507	18	0	28	0	GPR50	23	150345219	Frame_Shift_Del	DEL	C	TCGA-BR-8487-01A-11D-2394-08	188861	150345219	4925341	3669	62802											
GABRE	2564	broad.mit.edu	37	chrX	151138815	151138815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaggctggggctgggggCcatagacaacatcacgggaa	16	10	1	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:151138815C>T	uc004ffi.2	-	2	170	c.116G>A	c.(115-117)GGC>GAC	p.G39D	GABRE_uc011myd.1_RNA|GABRE_uc011mye.1_RNA	NM_004961	NP_004952	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor,	39	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTGGGGGCCATAGACAAC	0.512													T	151138815	C	T	151138815	3	4	94	1	0	0	0	0	1	0	0	0	6170	739	26	2	1436	2	GABRE	23	151138815	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	793596	151138815	4131745	3670	62803											
GABRA3	2556	broad.mit.edu	37	chrX	151358315	151358315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatacaaaggcataacagaCggctatgaaccagtccatgg	9	9	0	2	rs139179813		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:151358315C>T	uc010ntk.1	-	9	1270	c.1030G>A	c.(1030-1032)GTC>ATC	p.V344I		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	344	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCATAACAGACGGCTATGAAC	0.488													T	151358315	C	T	151358315	3	4	94	1	0	0	0	0	1	0	0	0	6162	536	19	1	456	1	GABRA3	23	151358315	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	219500	151358315	3912245	3671	62804											
MAGEA12	4111	broad.mit.edu	37	chrX	151900066	151900066	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaccaaatcttgggtgagCagcttcctgggatgcgcaaa	12	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:151900066C>T	uc010ntp.2	-	3	1089	c.735G>A	c.(733-735)CTG>CTA	p.L245L	MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Silent_p.L245L	NM_005367	NP_005358	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	245	MAGE.									skin(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGGGTGAGCAGCTTCCTGG	0.592													T	151900066	C	T	151900066	2	4	94	1	0	0	0	0	0	0	0	1	9166	697	25	2		2	MAGEA12	23	151900066	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	541751	151900066	3370494	3672	62805											
PNMA3	29944	broad.mit.edu	37	chrX	152226190	152226190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtaaagcctatcaggagGcaggagagaaagtatctagc	13	6	2	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:152226190G>A	uc004fhc.2	+	2	1114	c.778G>A	c.(778-780)GCA>ACA	p.A260T	PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	paraneoplastic cancer-testis-brain antigen	260					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			skin(2)|large_intestine(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ctatcaggaggcaggagagaa	0													A	152226190	G	A	152226190	3	1	94	1	0	0	0	0	1	0	0	0	12155	1203	42	2	780	2	PNMA3	23	152226190	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	326124	152226190	3044370	3673	62806											
ATP2B3	492	broad.mit.edu	37	chrX	152807870	152807870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcgagtctgaccacgtgCgcaagtcagctgacaaagat	13	11	2	3			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:152807870C>T	uc004fht.1	+	4	880	c.754C>T	c.(754-756)CGC>TGC	p.R252C	ATP2B3_uc004fhs.1_Missense_Mutation_p.R252C	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	252	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGACCACGTGCGCAAGTCAGC	0.657													T	152807870	C	T	152807870	3	4	94	1	0	0	0	0	1	0	0	0	1141	768	27	1	768	1	ATP2B3	23	152807870	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	581680	152807870	2462690	3674	62807											
ATP2B3	492	broad.mit.edu	37	chrX	152845526	152845526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacaacttcatggccacgCccgagtttctgatcaatgac	7	13	4	2			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:152845526C>T	uc004fht.1	+	20	3559	c.3433C>T	c.(3433-3435)CCC>TCC	p.P1145S	ATP2B3_uc004fhs.1_3'UTR|ATP2B3_uc010nuf.1_Missense_Mutation_p.P282S|ATP2B3_uc004fhu.1_Missense_Mutation_p.P97S	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	1145	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATGGCCACGCCCGAGTTTCT	0.597													T	152845526	C	T	152845526	3	4	94	1	0	0	0	0	1	0	0	0	1141	739	26	2	3669	2	ATP2B3	23	152845526	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	37656	152845526	2425034	3675	62808											
ATP2B3	492	broad.mit.edu	37	chrX	152845618	152845618	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagcgcctccgggcccccccGcccccgtcccccaaccagaa	9	24	0	1	rs143876864	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:152845618G>C	uc004fht.1	+	20	3651	c.3525G>C	c.(3523-3525)CCG>CCC	p.P1175P	ATP2B3_uc004fhs.1_3'UTR|ATP2B3_uc010nuf.1_Silent_p.P312P|ATP2B3_uc004fhu.1_Silent_p.P127P	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	1175	Cytoplasmic (Potential).|Poly-Pro.				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCCCCCCCGCCCCCGTCCC	0.597													C	152845618	G	C	152845618	2	2	94	1	0	0	0	0	0	0	0	1	1141	1074	38	5		5	ATP2B3	23	152845618	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	92	152845618	2424942	3676	62809											
PNCK	139728	broad.mit.edu	37	chrX	152938067	152938067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagggcctccttgccccGgagggccttcttggggatgc	14	15	1	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:152938067G>A	uc011myu.1	-	3	589	c.403C>T	c.(403-405)CGG>TGG	p.R135W	PNCK_uc011myt.1_Missense_Mutation_p.R69W|PNCK_uc004fia.2_Missense_Mutation_p.R64W|PNCK_uc004fhz.3_5'UTR|PNCK_uc010nuh.2_Missense_Mutation_p.R135W|PNCK_uc011myv.1_Missense_Mutation_p.R79W|PNCK_uc011myw.1_Missense_Mutation_p.R79W	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	pregnancy upregulated non-ubiquitously expressed	52	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCTTGCCCCGGAGGGCCTTC	0.657													A	152938067	G	A	152938067	3	1	94	1	0	0	0	0	1	0	0	0	12145	1115	39	1	913	1	PNCK	23	152938067	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	92449	152938067	2332493	3677	62810											
SRPK3	26576	broad.mit.edu	37	chrX	153050207	153050208	+	Frame_Shift_Ins	INS	-	-	A													gctccccttgcttccagcacINSaagcacttcacggaagacat							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:153050207_153050208insA	uc004fil.2	+	12	1283_1284	c.1251_1252insA	c.(1249-1254)CACAAGfs	p.H417fs	SRPK3_uc004fik.2_Frame_Shift_Ins_p.H483fs|SRPK3_uc010nul.2_Frame_Shift_Ins_p.H341fs|SRPK3_uc004fin.2_Frame_Shift_Ins_p.H416fs|SRPK3_uc004fim.2_Frame_Shift_Ins_p.H383fs	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	serine arginine rich protein-specific kinase 3	417_418	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			pancreas(2)|lung(1)	3	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTTCCAGCACAAGCACTTCAC	0.683													A	153050208	-	A	153050207	7	5	94	1	0	1	1	0	0	0	0	0	15160	477	17	0	1297	0	SRPK3	23	153050207	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	112140	153050207	2220353	3678	62811	303	2									
SRPK3	26576	broad.mit.edu	37	chrX	153050208	153050209	+	Frame_Shift_Ins	INS	-	-	A													ctccccttgcttccagcacaINSagcacttcacggaagacatc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:153050207_153050208C>CA	uc004fik.3	+	17	3874_3875	c.1449_1450C>CA	c.(1447-1452)cacaagfs	p.H483fs	SRPK3_uc004fim.3_Frame_Shift_Ins_p.H383fs|SRPK3_uc004fil.3_Frame_Shift_Ins_p.H417fs|SRPK3_uc004fin.3_Frame_Shift_Ins_p.H416fs|SRPK3_uc010nul.3_Frame_Shift_Ins_p.H341fs	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA.	417	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTTCCAGCACAAGCACTTCAC	0.683													A	153050209	-	A	153050208	7	5	94	1	0	1	1	0	0	0	0	0	15160	131	5	0	1298	0	SRPK3	23	153050208	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	1	153050208	2220352	3679	62812	303	2									
L1CAM	3897	broad.mit.edu	37	chrX	153130378	153130378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgcaggtgggggctgagatCggtcaggttgtgtgtccgaa	18	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:153130378C>T	uc004fjb.2	-	22	3052	c.2944G>A	c.(2944-2946)GAT>AAT	p.D982N	L1CAM_uc004fjc.2_Missense_Mutation_p.D982N|L1CAM_uc010nuo.2_Missense_Mutation_p.D977N	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	982	Extracellular (Potential).|Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTGAGATCGGTCAGGTTG	0.622													T	153130378	C	T	153130378	3	4	94	1	0	0	0	0	1	0	0	0	8588	884	31	1	857	1	L1CAM	23	153130378	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	80170	153130378	2140182	3680	62813											
AVPR2	554	broad.mit.edu	37	chrX	153171693	153171693	+	Frame_Shift_Del	DEL	G	G	-													cagggccatcagagaggcctGgggggcgccgcaggggacgc							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:153171693delG	uc004fjh.3	+	2	804	c.733delG	c.(733-735)GGGfs	p.G245fs	AVPR2_uc004fjg.3_Frame_Shift_Del_p.G34fs|AVPR2_uc004fji.2_Frame_Shift_Del_p.G245fs	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	245	Cytoplasmic (Potential).				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	AGAGAGGCCTGGGGGGCGCCG	0.652													-	153171693	G	-	153171693	7	5	94	1	0	1	0	1	0	0	0	0	1233	1348	47	0	739	0	AVPR2	23	153171693	Frame_Shift_Del	DEL	G	TCGA-BR-8487-01A-11D-2394-08	41315	153171693	2098867	3681	62814											
HCFC1	3054	broad.mit.edu	37	chrX	153218167	153218167	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgataactggtctacttcGgactgtgtgggtgggggtgg	18	5	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:153218167G>A	uc004fjp.2	-	19	5268	c.4740C>T	c.(4738-4740)TCC>TCT	p.S1580S		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1580					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTCTACTTCGGACTGTGTGG	0.642											OREG0003630	type=REGULATORY REGION|Gene=BC010606|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	153218167	G	A	153218167	2	1	94	1	0	0	0	0	0	0	0	1	6991	1103	39	1		1	HCFC1	23	153218167	Silent	SNP	G	TCGA-BR-8487-01A-11D-2394-08	46474	153218167	2052393	3682	62815											
MECP2	4204	broad.mit.edu	37	chrX	153297719	153297719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcctttgcttaagcttccGtgtccagccttcaggcaggg	10	12	1	0	rs61754456		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:153297719G>A	uc004fjv.2	-	3	542	c.316C>T	c.(316-318)CGG>TGG	p.R106W	MECP2_uc004fjw.2_Missense_Mutation_p.R118W	NM_004992	NP_004983	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 1	106	MBD.		R -> Q (in RTT).		negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTAAGCTTCCGTGTCCAGCCT	0.557													A	153297719	G	A	153297719	3	1	94	1	0	0	0	0	1	0	0	0	9423	1144	40	1	1152	1	MECP2	23	153297719	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	79552	153297719	1972841	3683	62816											
OPN1LW	5956	broad.mit.edu	37	chrX	153416216	153416216	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctttgtggtcactgcatcCgtcttcacaaatgggcttgt	9	10	4	0			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:153416216C>A	uc004fjz.3	+	2	234	c.201C>A	c.(199-201)TCC>TCA	p.S67S		NM_020061	NP_064445	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	67	Helical; Name=1; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCACTGCATCCGTCTTCACAA	0.582													A	153416216	C	A	153416216	2	1	94	1	0	0	0	0	0	0	0	1	10877	639	23	5		5	OPN1LW	23	153416216	Silent	SNP	C	TCGA-BR-8487-01A-11D-2394-08	118497	153416216	1854344	3684	62817											
TKTL1	8277	broad.mit.edu	37	chrX	153556271	153556271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcaaaagccacagagggcCggatcattacagtggaggat	14	8	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:153556271C>T	uc004fkg.2	+	12	1771	c.1585C>T	c.(1585-1587)CGG>TGG	p.R529W	TKTL1_uc011mzl.1_Missense_Mutation_p.R523W|TKTL1_uc011mzm.1_Missense_Mutation_p.R325W|TKTL1_uc004fkh.2_Missense_Mutation_p.R473W	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	529					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACAGAGGGCCGGATCATTAC	0.478													T	153556271	C	T	153556271	3	4	94	1	0	0	0	0	1	0	0	0	15932	643	23	1	1631	1	TKTL1	23	153556271	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	140055	153556271	1714289	3685	62818											
FLNA	2316	broad.mit.edu	37	chrX	153581805	153581805	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagccgacctttaggtgggAcatacgcatggagtcgtcac	13	10	1	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:153581805A>G	uc004fkk.2	-	37	6130	c.5881T>C	c.(5881-5883)TCC>CCC	p.S1961P	FLNA_uc004fki.2_Missense_Mutation_p.S4P|FLNA_uc011mzn.1_Missense_Mutation_p.S94P|FLNA_uc010nuu.1_Missense_Mutation_p.S1953P	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1961	Filamin 18.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTTAGGTGGGACATACGCATG	0.637													G	153581805	A	G	153581805	3	3	94	1	0	0	0	0	1	0	0	0	5933	275	10	3	2110	3	FLNA	23	153581805	Missense_Mutation	SNP	A	TCGA-BR-8487-01A-11D-2394-08	25534	153581805	1688755	3686	62819											
FLNA	2316	broad.mit.edu	37	chrX	153594580	153594581	+	Frame_Shift_Ins	INS	-	-	C													gatcacaacctcgacctcgcINSccgtgccagctcctgccacg							TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:153594579_153594580G>GC	uc004fkk.2	-	8	1490_1491	c.1241_1242C>GC	c.(1240-1242)ggcfs	p.G414fs	FLNA_uc010nuu.1_Frame_Shift_Ins_p.G414fs	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	414					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTCGACCTCGCCCGTGCCAGC	0.688													C	153594581	-	C	153594580	7	5	94	1	0	1	1	0	0	0	0	0	5933	739	26	0	6862	0	FLNA	23	153594580	Frame_Shift_Ins	INS	-	TCGA-BR-8487-01A-11D-2394-08	12775	153594580	1675980	3687	62820											
FLNA	2316	broad.mit.edu	37	chrX	153595185	153595185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccacagtgaactctgccCgcttcttcaccatgttgcct	6	16	4	1			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:153595185C>T	uc004fkk.2	-	6	1151	c.902G>A	c.(901-903)CGG>CAG	p.R301Q	FLNA_uc010nuu.1_Missense_Mutation_p.R301Q	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	301	Filamin 1.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAACTCTGCCCGCTTCTTCAC	0.647													T	153595185	C	T	153595185	3	4	94	1	0	0	0	0	1	0	0	0	5933	652	23	1	7213	1	FLNA	23	153595185	Missense_Mutation	SNP	C	TCGA-BR-8487-01A-11D-2394-08	605	153595185	1675375	3688	62821											
PLXNA3	55558	broad.mit.edu	37	chrX	153690582	153690582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccgacggcatggccagcGtggccgcctacacctaccgc	12	18	0	0	rs148672767		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:153690582G>A	uc004flm.2	+	4	1422	c.1249G>A	c.(1249-1251)GTG>ATG	p.V417M		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	417	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATGGCCAGCGTGGCCGCCTA	0.667													A	153690582	G	A	153690582	3	1	94	1	0	0	0	0	1	0	0	0	12121	1145	40	1	1259	1	PLXNA3	23	153690582	Missense_Mutation	SNP	G	TCGA-BR-8487-01A-11D-2394-08	95397	153690582	1579978	3689	62822											
F8	2157	broad.mit.edu	37	chrX	154133272	154133272	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagaatagaaggaatagggAcgagaggcctgatttctgaa	13	5	1	5			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:154133272A>G	uc004fmt.2	-	16	5571	c.5400T>C	c.(5398-5400)CGT>CGC	p.R1800R	F8_uc010nvi.1_Intron	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1800	F5/8 type A 3.|Plastocyanin-like 5.		R -> G (in HEMA; mild).|R -> H (in HEMA; moderate/severe).|R -> C (in HEMA; moderate).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGGAATAGGGACGAGAGGCCT	0.363													G	154133272	A	G	154133272	2	3	94	1	0	0	0	0	0	0	0	1	5350	262	10	3		3	F8	23	154133272	Silent	SNP	A	TCGA-BR-8487-01A-11D-2394-08	442690	154133272	1137288	3690	62823											
PLCH2	9651	broad.mit.edu	37	chr1	2435628	2435628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggcccccggcagccagaCggacggcaggagccagcccc	16	17	0	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr1:2435628C>T	uc001aji.1	+	22	3501	c.3227C>T	c.(3226-3228)ACG>ATG	p.T1076M	PLCH2_uc010nyz.1_3'UTR|PLCH2_uc009vle.1_Missense_Mutation_p.T828M|PLCH2_uc001ajj.1_3'UTR|PLCH2_uc001ajk.1_3'UTR|PLCH2_uc001ajl.1_Translation_Start_Site	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	1076					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGCAGCCAGACGGACGGCAGG	0.731													T	2435628	C	T	2435628	3	4	95	1	0	0	0	0	1	0	0	0	12038	536	19	1	3313	1	PLCH2	1	2435628	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08		2435628	246814993	1	62824											
CAMTA1	23261	broad.mit.edu	37	chr1	7792608	7792608	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaacaggcgagcggaggCggcagcagtggaggcggcag	19	10	0	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr1:7792608C>T	uc001aoi.2	+	12	3222	c.3015C>T	c.(3013-3015)GGC>GGT	p.G1005G	CAMTA1_uc010nzv.1_Silent_p.G92G|CAMTA1_uc001aok.3_Silent_p.G48G	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1005					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGAGCGGAGGCGGCAGCAGTG	0.612													T	7792608	C	T	7792608	2	4	95	1	0	0	0	0	0	0	0	1	2613	755	27	1		1	CAMTA1	1	7792608	Silent	SNP	C	TCGA-BR-8588-01A-11D-2394-08	5356980	7792608	241458013	2	62825											
MASP2	10747	broad.mit.edu	37	chr1	11087139	11087139	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctgtccttgcccccactttCtaagccagcacaaagcatgt	7	15	1	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr1:11087139C>A	uc001aru.2	-	11	1885	c.1864G>T	c.(1864-1866)GAA>TAA	p.E622*		NM_006610	NP_006601	O00187	MASP2_HUMAN	mannan-binding lectin serine protease 2 isoform	622	Peptidase S1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CCCCCACTTTCTAAGCCAGCA	0.493													A	11087139	C	A	11087139	4	1	95	1	0	0	0	0	0	1	0	0	9323	922	32	5	200	5	MASP2	1	11087139	Nonsense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	3294531	11087139	238163482	3	62826											
SFN	2810	broad.mit.edu	37	chr1	27189931	27189931	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacgaggagggctcggaggaGaaggggcccgaggtgcgtga	21	7	0	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr1:27189931G>A	uc001bnc.1	+	1	299	c.228G>A	c.(226-228)GAG>GAA	p.E76E	uc010ofi.1_RNA	NM_006142	NP_006133	P31947	1433S_HUMAN	stratifin	76					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity				0		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GCTCGGAGGAGAAGGGGCCCG	0.627													A	27189931	G	A	27189931	2	1	95	1	0	0	0	0	0	0	0	1	14159	933	33	4		4	SFN	1	27189931	Silent	SNP	G	TCGA-BR-8588-01A-11D-2394-08	16102792	27189931	222060690	4	62827											
PTCH2	8643	broad.mit.edu	37	chr1	45292286	45292286	+	Frame_Shift_Del	DEL	G	G	-													tactgttcccagaagaggaaGggggagccgctggggtaggc					rs67515835		TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr1:45292285_45292285AG>A	uc010olf.2	-	17	2863	c.2851_2851CT>T	c.(2851-2853)ttcfs	p.F951fs	PTCH2_uc021omv.1_Frame_Shift_Del_p.F951fs|PTCH2_uc010olg.2_Frame_Shift_Del_p.F649fs	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	951					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CAGAAGAGGAAGGGGGAGCCG	0.662									Basal Cell Nevus syndrome				-	45292286	G	-	45292286	7	5	95	1	0	1	0	1	0	0	0	0	12731	987	35	0	801	0	PTCH2	1	45292286	Frame_Shift_Del	DEL	G	TCGA-BR-8588-01A-11D-2394-08	18102355	45292286	203958335	5	62828											
CHRNB2	1141	broad.mit.edu	37	chr1	154544028	154544028	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tacaccatcaacctcatcatCccctgtgtgctcatcacctc	3	18	5	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr1:154544028C>A	uc001ffg.2	+	5	993	c.729C>A	c.(727-729)ATC>ATA	p.I243I		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	243	Helical; (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	ACCTCATCATCCCCTGTGTGC	0.562													A	154544028	C	A	154544028	2	1	95	1	0	0	0	0	0	0	0	1	3391	845	30	5		5	CHRNB2	1	154544028	Silent	SNP	C	TCGA-BR-8588-01A-11D-2394-08	109251742	154544028	94706593	6	62829											
ADAM15	8751	broad.mit.edu	37	chr1	155030414	155030414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacagctcccagtgtcccCctgatgtcagcctaggggat	12	13	1	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr1:155030414C>T	uc001fgr.1	+	14	1605	c.1504C>T	c.(1504-1506)CCT>TCT	p.P502S	ADAM15_uc001fgq.1_Missense_Mutation_p.P187S|ADAM15_uc010pet.1_Missense_Mutation_p.P486S|ADAM15_uc010peu.1_Missense_Mutation_p.P519S|ADAM15_uc001fgt.1_Missense_Mutation_p.P502S|ADAM15_uc010pev.1_Missense_Mutation_p.P512S|ADAM15_uc001fgs.1_Missense_Mutation_p.P502S|ADAM15_uc001fgu.1_Missense_Mutation_p.P502S|ADAM15_uc001fgw.1_Missense_Mutation_p.P502S|ADAM15_uc001fgv.1_Missense_Mutation_p.P502S|ADAM15_uc001fgx.1_Missense_Mutation_p.P502S|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'Flank	NM_207197	NP_997080	Q13444	ADA15_HUMAN	a disintegrin and metalloproteinase domain 15	502	Disintegrin.|Extracellular (Potential).				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			central_nervous_system(3)|skin(2)|ovary(1)	6	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCAGTGTCCCCCTGATGTCAG	0.637													T	155030414	C	T	155030414	3	4	95	1	0	0	0	0	1	0	0	0	237	623	22	4	1558	4	ADAM15	1	155030414	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	486386	155030414	94220207	7	62830											
C1orf25	81627	broad.mit.edu	37	chr1	185109148	185109148	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcagtacattggcatccaTtttggtcaccttaatattac	5	10	2	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr1:185109148T>C	uc001grf.3	-	8	1338	c.1066A>G	c.(1066-1068)ATG>GTG	p.M356V	C1orf25_uc010pon.1_Missense_Mutation_p.M200V	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA	356						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0						TTGGCATCCATTTTGGTCACC	0.353													C	185109148	T	C	185109148	3	2	95	1	0	0	0	0	1	0	0	0	2034	1493	52	3	1167	3	C1orf25	1	185109148	Missense_Mutation	SNP	T	TCGA-BR-8588-01A-11D-2394-08	30078734	185109148	64141473	8	62831											
HMCN1	83872	broad.mit.edu	37	chr1	186099106	186099106	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtttccctcagcccactttGacagtgtgaatggacacagt	9	11	1	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr1:186099106G>T	uc001grq.1	+	84	13142	c.12913G>T	c.(12913-12915)GAC>TAC	p.D4305Y	HMCN1_uc001grs.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4305	Ig-like C2-type 42.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AGCCCACTTTGACAGTGTGAA	0.413													T	186099106	G	T	186099106	3	4	95	1	0	0	0	0	1	0	0	0	7220	1290	45	5	13247	5	HMCN1	1	186099106	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	989958	186099106	63151515	9	62832											
ARL8A	127829	broad.mit.edu	37	chr1	202107141	202107141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcccacatgctgcggaaaCgcggctgtcccccaatgtcc	10	17	0	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr1:202107141C>T	uc001gxk.1	-	3	396	c.230G>A	c.(229-231)CGT>CAT	p.R77H		NM_138795	NP_620150	Q96BM9	ARL8A_HUMAN	ADP-ribosylation factor-like 8A	77					cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GTP binding|GTPase activity			ovary(2)	2						GCTGCGGAAACGCGGCTGTCC	0.617													T	202107141	C	T	202107141	3	4	95	1	0	0	0	0	1	0	0	0	946	536	19	1	350	1	ARL8A	1	202107141	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	16008035	202107141	47143480	10	62833											
OR2W5	441932	broad.mit.edu	37	chr1	247654885	247654885	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtggcctggtgctgtggCttcctaaactccttcatcat	9	12	2	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr1:247654885C>T	uc001icz.1	+	1	456	c.456C>T	c.(454-456)GGC>GGT	p.G152G		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGTGCTGTGGCTTCCTAAACT	0.592													T	247654885	C	T	247654885	2	4	95	1	0	0	0	0	0	0	0	1	11034	784	28	2		2	OR2W5	1	247654885	Silent	SNP	C	TCGA-BR-8588-01A-11D-2394-08	45547744	247654885	1595736	11	62834											
OR14A16	284532	broad.mit.edu	37	chr1	247978434	247978434	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaatccaaaactacattaaTaaggatgagtgcaatttctc	6	7	1	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr1:247978434T>C	uc001idm.1	-	1	598	c.598A>G	c.(598-600)ATT>GTT	p.I200V		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A,	200	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ACTACATTAATAAGGATGAGT	0.393													C	247978434	T	C	247978434	3	2	95	1	0	0	0	0	1	0	0	0	10945	1406	49	3	335	3	OR14A16	1	247978434	Missense_Mutation	SNP	T	TCGA-BR-8588-01A-11D-2394-08	323549	247978434	1272187	12	62835											
CEBPZ	10153	broad.mit.edu	37	chr2	37441097	37441097	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctctttaacagcaactttttTataatacctataatattcat	1	8	2	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr2:37441097T>A	uc002rpz.2	-	10	2485	c.2455A>T	c.(2455-2457)AAA>TAA	p.K819*		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	819					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				GCAACTTTTTTATAATACCTA	0.303													A	37441097	T	A	37441097	4	1	95	1	0	0	0	0	0	1	0	0	3204	1763	61	5	737	5	CEBPZ	2	37441097	Nonsense_Mutation	SNP	T	TCGA-BR-8588-01A-11D-2394-08		37441097	205758276	13	62836											
TTN	7273	broad.mit.edu	37	chr2	179595379	179595379	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatttgtacttttcactagCtgatatttcttggtcatctt	6	7	4	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr2:179595379C>A	uc010zfg.1	-	58	14373	c.14149G>T	c.(14149-14151)GCT>TCT	p.A4717S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A1378S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5644							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCACTAGCTGATATTTCT	0.408													A	179595379	C	A	179595379	3	1	95	1	0	0	0	0	1	0	0	0	16732	797	28	5	86856	5	TTN	2	179595379	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	142154282	179595379	63603994	14	62837											
TTN	7273	broad.mit.edu	37	chr2	179634998	179634998	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaacttcaaaggcaacagtGgcattttccaaggctgtcac	8	11	2	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr2:179634998G>A	uc010zfg.1	-	36	8654	c.8430C>T	c.(8428-8430)GCC>GCT	p.A2810A	TTN_uc010zfh.1_Silent_p.A2764A|TTN_uc010zfi.1_Silent_p.A2764A|TTN_uc010zfj.1_Silent_p.A2764A|TTN_uc002unb.2_Silent_p.A2810A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2810							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGCAACAGTGGCATTTTCCA	0.403													A	179634998	G	A	179634998	2	1	95	1	0	0	0	0	0	0	0	1	16732	1335	47	4		4	TTN	2	179634998	Silent	SNP	G	TCGA-BR-8588-01A-11D-2394-08	39619	179634998	63564375	15	62838											
BMPR2	659	broad.mit.edu	37	chr2	203383565	203383565	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgattggccgaggtcgataTggagcagtatataaaggctc	13	7	0	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr2:203383565T>A	uc002uzf.3	+	6	1790	c.642T>A	c.(640-642)TAT>TAA	p.Y214*	BMPR2_uc010ftr.2_Nonsense_Mutation_p.Y214*	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	214	ATP.|Protein kinase.|Cytoplasmic (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						GAGGTCGATATGGAGCAGTAT	0.338													A	203383565	T	A	203383565	4	1	95	1	0	0	0	0	0	1	0	0	1471	1471	51	5	664	5	BMPR2	2	203383565	Nonsense_Mutation	SNP	T	TCGA-BR-8588-01A-11D-2394-08	23748567	203383565	39815808	16	62839											
EPHA4	2043	broad.mit.edu	37	chr2	222291236	222291236	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtataaccagcagctgtgaAgttatccttataccggtcca	9	10	0	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr2:222291236A>C	uc002vmq.2	-	16	2836	c.2794T>G	c.(2794-2796)TTC>GTC	p.F932V	EPHA4_uc002vmr.2_Missense_Mutation_p.F932V|EPHA4_uc010zlm.1_Missense_Mutation_p.F873V|EPHA4_uc010zln.1_Missense_Mutation_p.F932V	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	932	Cytoplasmic (Potential).|SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.F932F(2)		lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GCAGCTGTGAAGTTATCCTTA	0.463													C	222291236	A	C	222291236	3	2	95	1	0	0	0	0	1	0	0	0	5169	72	3	5	174	5	EPHA4	2	222291236	Missense_Mutation	SNP	A	TCGA-BR-8588-01A-11D-2394-08	18907671	222291236	20908137	17	62840											
ATG16L1	55054	broad.mit.edu	37	chr2	234198933	234198933	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggatccagttgcaatgataTtgtctgcacagagcaatgtg	11	7	1	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr2:234198933T>C	uc002vty.2	+	14	1621	c.1364T>C	c.(1363-1365)ATT>ACT	p.I455T	ATG16L1_uc002vtx.1_Missense_Mutation_p.I292T|ATG16L1_uc002vua.2_Missense_Mutation_p.I436T|ATG16L1_uc002vub.2_Missense_Mutation_p.I313T|ATG16L1_uc002vtz.2_Missense_Mutation_p.I276T|ATG16L1_uc002vud.3_Missense_Mutation_p.I371T	NM_030803	NP_110430	Q676U5	A16L1_HUMAN	APG16 autophagy 16-like isoform 1	455	WD 4.				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding				0		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		TGCAATGATATTGTCTGCACA	0.418													C	234198933	T	C	234198933	3	2	95	1	0	0	0	0	1	0	0	0	1091	1493	52	3	1418	3	ATG16L1	2	234198933	Missense_Mutation	SNP	T	TCGA-BR-8588-01A-11D-2394-08	11907697	234198933	9000440	18	62841											
CNTN6	27255	broad.mit.edu	37	chr3	1371584	1371584	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cccagggcagctatctcttgGaaaagaggaacggagaccct	12	11	1	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr3:1371584G>T	uc003boz.2	+	11	1596	c.1329G>T	c.(1327-1329)TGG>TGT	p.W443C	CNTN6_uc011asj.1_Missense_Mutation_p.W371C|CNTN6_uc003bpa.2_Missense_Mutation_p.W443C	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	443	Ig-like C2-type 5.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CTATCTCTTGGAAAAGAGGAA	0.333													T	1371584	G	T	1371584	3	4	95	1	0	0	0	0	1	0	0	0	3645	1183	41	5	1367	5	CNTN6	3	1371584	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08		1371584	196650846	19	62842											
LRRC3B	116135	broad.mit.edu	37	chr3	26751343	26751343	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatctcaaggaaatacctagAgatcttcctcctgaaacagt	6	10	2	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr3:26751343A>T	uc003cdp.2	+	2	769	c.180A>T	c.(178-180)AGA>AGT	p.R60S	LRRC3B_uc003cdq.2_Missense_Mutation_p.R60S	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B precursor	60	LRRNT.					integral to membrane				pancreas(2)|ovary(1)|skin(1)	4						AAATACCTAGAGATCTTCCTC	0.423													T	26751343	A	T	26751343	3	4	95	1	0	0	0	0	1	0	0	0	8996	301	11	5	182	5	LRRC3B	3	26751343	Missense_Mutation	SNP	A	TCGA-BR-8588-01A-11D-2394-08	25379759	26751343	171271087	20	62843											
TGFBR2	7048	broad.mit.edu	37	chr3	30691807	30691807	+	Frame_Shift_Del	DEL	C	C	-													ctagagacagtttgccatgaCcccaagctcccctaccatga							TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr3:30691806_30691806AC>A	uc003ceo.3	+	2	690	c.308_308AC>A	c.(307-309)gacfs	p.D103fs	TGFBR2_uc021wut.1_5'UTR|TGFBR2_uc003cen.3_Frame_Shift_Del_p.D128fs	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	103					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GTTTGCCATGACCCCAAGCTC	0.433													-	30691807	C	-	30691807	7	5	95	1	0	1	0	1	0	0	0	0	15819	506	18	0	398	0	TGFBR2	3	30691807	Frame_Shift_Del	DEL	C	TCGA-BR-8588-01A-11D-2394-08	3940464	30691807	167330623	21	62844											
FEZF2	55079	broad.mit.edu	37	chr3	62358293	62358293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgagcagtgtctttgacGgcacctcgtagcctaggggc	13	11	1	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr3:62358293G>A	uc003dlh.2	-	1	458	c.251C>T	c.(250-252)CCG>CTG	p.P84L	FEZF2_uc003dli.2_Missense_Mutation_p.P84L	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	84					transcription, DNA-dependent	nucleus	zinc ion binding			lung(1)	1		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		TGTCTTTGACGGCACCTCGTA	0.502													A	62358293	G	A	62358293	3	1	95	1	0	0	0	0	1	0	0	0	5826	1116	39	1	1144	1	FEZF2	3	62358293	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	31666486	62358293	135664137	22	62845											
KIAA2018	205717	broad.mit.edu	37	chr3	113379292	113379292	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctattaatgtttttcaaatCtgaagtactaacacttgaag	6	6	2	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr3:113379292C>A	uc003eam.2	-	7	1648	c.1237G>T	c.(1237-1239)GAT>TAT	p.D413Y	KIAA2018_uc003eal.2_Missense_Mutation_p.D357Y	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	413					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						TTTTTCAAATCTGAAGTACTA	0.428													A	113379292	C	A	113379292	3	1	95	1	0	0	0	0	1	0	0	0	8268	913	32	5	5504	5	KIAA2018	3	113379292	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	51020999	113379292	84643138	23	62846											
ZBTB20	26137	broad.mit.edu	37	chr3	114070254	114070254	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcccgactccgtgtcgctgCtctggcctgacgtgcctgac	12	16	1	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr3:114070254C>A	uc003ebi.2	-	4	851	c.671G>T	c.(670-672)AGC>ATC	p.S224I	ZBTB20_uc003ebj.2_Missense_Mutation_p.S151I|ZBTB20_uc010hqp.2_Missense_Mutation_p.S151I|ZBTB20_uc003ebk.2_Missense_Mutation_p.S151I|ZBTB20_uc003ebl.2_Missense_Mutation_p.S151I|ZBTB20_uc003ebm.2_Missense_Mutation_p.S151I|ZBTB20_uc003ebn.2_Missense_Mutation_p.S151I|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	224				S -> G (in Ref. 1; AAG28340).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CGTGTCGCTGCTCTGGCCTGA	0.662													A	114070254	C	A	114070254	3	1	95	1	0	0	0	0	1	0	0	0	17526	797	28	5	1562	5	ZBTB20	3	114070254	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	690962	114070254	83952176	24	62847											
PLSCR2	57047	broad.mit.edu	37	chr3	146173071	146173071	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacagttacatcttagtggTctttccagagttatgacttc	7	9	2	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr3:146173071T>C	uc003evv.1	-	5	609	c.276A>G	c.(274-276)AGA>AGG	p.R92R	PLSCR2_uc003evw.1_Silent_p.R161R	NM_020359	NP_065092	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	92	Cytoplasmic (By similarity).				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity				0						ATCTTAGTGGTCTTTCCAGAG	0.423													C	146173071	T	C	146173071	2	2	95	1	0	0	0	0	0	0	0	1	12110	1664	58	3		3	PLSCR2	3	146173071	Silent	SNP	T	TCGA-BR-8588-01A-11D-2394-08	32102817	146173071	51849359	25	62848											
PIK3CA	5290	broad.mit.edu	37	chr3	178916944	178916944	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtaggcaaccgtgaagaaAagatcctcaatcgagaaatt	9	8	1	4			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr3:178916944A>G	uc003fjk.2	+	2	488	c.331A>G	c.(331-333)AAG>GAG	p.K111E		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	111					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.K111N(10)|p.K111E(7)|p.K111R(1)|p.K111del(1)|p.K111_I112>N(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCGTGAAGAAAAGATCCTCAA	0.333		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178916944	A	G	178916944	3	3	95	1	0	0	0	0	1	0	0	0	11913	15	1	3	333	3	PIK3CA	3	178916944	Missense_Mutation	SNP	A	TCGA-BR-8588-01A-11D-2394-08	32743873	178916944	19105486	26	62849											
CHRD	8646	broad.mit.edu	37	chr3	184101337	184101337	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtagggacaagcagtgaGgtggtggccatgacactgga	18	6	0	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr3:184101337G>A	uc003fov.2	+	12	1593	c.1347G>A	c.(1345-1347)GAG>GAA	p.E449E	CHRD_uc003fow.2_Silent_p.E79E|CHRD_uc003fox.2_Silent_p.E449E|CHRD_uc003foy.2_Silent_p.E79E|CHRD_uc010hyc.2_Intron|CHRD_uc011brr.1_Silent_p.E79E	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	449	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAAGCAGTGAGGTGGTGGCCA	0.637													A	184101337	G	A	184101337	2	1	95	1	0	0	0	0	0	0	0	1	3372	991	35	4		4	CHRD	3	184101337	Silent	SNP	G	TCGA-BR-8588-01A-11D-2394-08	5184393	184101337	13921093	27	62850											
AHSG	197	broad.mit.edu	37	chr3	186330959	186330959	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtcctgctcctttgtcTtgctcagctctggggctgcc	10	16	3	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr3:186330959T>G	uc003fqk.3	+	1	110	c.29T>G	c.(28-30)CTT>CGT	p.L10R	AHSG_uc003fqj.2_Missense_Mutation_p.L10R|AHSG_uc003fql.3_Missense_Mutation_p.L10R|AHSG_uc003fqm.3_Missense_Mutation_p.L10R|AHSG_uc010hyp.2_Missense_Mutation_p.L10R	NM_001622	NP_001613	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	10					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding				0	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CTCCTTTGTCTTGCTCAGCTC	0.607													G	186330959	T	G	186330959	3	3	95	1	0	0	0	0	1	0	0	0	420	1609	56	5	31	5	AHSG	3	186330959	Missense_Mutation	SNP	T	TCGA-BR-8588-01A-11D-2394-08	2229622	186330959	11691471	28	62851											
KIAA1530	57654	broad.mit.edu	37	chr4	1369243	1369243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcggaccccacctctgcGgctgctcagctgcggcagct	13	16	2	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr4:1369243G>A	uc003gde.3	+	9	1827	c.1380G>A	c.(1378-1380)GCG>GCA	p.A460A	KIAA1530_uc010ibv.2_Silent_p.A11A	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	460											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			CCACCTCTGCGGCTGCTCAGC	0.657													A	1369243	G	A	1369243	2	1	95	1	0	0	0	0	0	0	0	1	8241	1103	39	1		1	KIAA1530	4	1369243	Silent	SNP	G	TCGA-BR-8588-01A-11D-2394-08		1369243	189785033	29	62852											
NOP14	8602	broad.mit.edu	37	chr4	2952857	2952857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactttgtaggaaagcaaaCgcctgtcatctttatctagc	7	9	3	0	rs143842679	byFrequency	TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr4:2952857C>T	uc003ggj.1	-	7	1058	c.986G>A	c.(985-987)CGT>CAT	p.R329H	C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.R75H|NOP14_uc003ggk.3_Missense_Mutation_p.R329H|NOP14_uc003ggl.2_Missense_Mutation_p.R329H|NOP14_uc010icq.1_RNA	NM_003703	NP_003694	P78316	NOP14_HUMAN	probable nucleolar complex protein 14	329					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)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1						GGAAAGCAAACGCCTGTCATC	0.323													T	2952857	C	T	2952857	3	4	95	1	0	0	0	0	1	0	0	0	10536	536	19	1	1635	1	NOP14	4	2952857	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	1583614	2952857	188201419	30	62853											
KIAA1211	57482	broad.mit.edu	37	chr4	57181587	57181587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctggggagaaccctccccGaggccccggcgacgcgaggg	17	15	0	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr4:57181587G>A	uc003hbk.2	+	8	2310	c.1919G>A	c.(1918-1920)CGA>CAA	p.R640Q	KIAA1211_uc010iha.2_Missense_Mutation_p.R633Q|KIAA1211_uc011bzz.1_Missense_Mutation_p.R550Q|KIAA1211_uc003hbm.1_Missense_Mutation_p.R526Q	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	640										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					AACCCTCCCCGAGGCCCCGGC	0.682													A	57181587	G	A	57181587	3	1	95	1	0	0	0	0	1	0	0	0	8215	1058	37	1	1937	1	KIAA1211	4	57181587	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	54228730	57181587	133972689	31	62854											
ATOH1	474	broad.mit.edu	37	chr4	94750923	94750923	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcagccccagcttctgcGggagggtactcggtgcagct	13	13	2	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr4:94750923G>A	uc003hta.1	+	1	846	c.846G>A	c.(844-846)GCG>GCA	p.A282A		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	atonal homolog 1	282					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CAGCTTCTGCGGGAGGGTACT	0.652													A	94750923	G	A	94750923	2	1	95	1	0	0	0	0	0	0	0	1	1112	1103	39	1		1	ATOH1	4	94750923	Silent	SNP	G	TCGA-BR-8588-01A-11D-2394-08	37569336	94750923	96403353	32	62855											
PRDM9	56979	broad.mit.edu	37	chr5	23510114	23510114	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacacagaagattctgatgaAgaatggacccctaggcagca	11	9	1	5			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr5:23510114A>C	uc003jgo.2	+	4	461	c.279A>C	c.(277-279)GAA>GAC	p.E93D		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	93					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						ATTCTGATGAAGAATGGACCC	0.363										HNSCC(3;0.000094)			C	23510114	A	C	23510114	3	2	95	1	0	0	0	0	1	0	0	0	12463	69	3	5	289	5	PRDM9	5	23510114	Missense_Mutation	SNP	A	TCGA-BR-8588-01A-11D-2394-08		23510114	157405146	33	62856											
PRDM9	56979	broad.mit.edu	37	chr5	23522456	23522456	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaaagatgtatagcctgcgAgaaagaaagggtcatgcata	12	5	1	4			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr5:23522456A>T	uc003jgo.2	+	7	734	c.552A>T	c.(550-552)CGA>CGT	p.R184R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	184					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						ATAGCCTGCGAGAAAGAAAGG	0.458										HNSCC(3;0.000094)			T	23522456	A	T	23522456	2	4	95	1	0	0	0	0	0	0	0	1	12463	291	11	5		5	PRDM9	5	23522456	Silent	SNP	A	TCGA-BR-8588-01A-11D-2394-08	12342	23522456	157392804	34	62857											
OSMR	9180	broad.mit.edu	37	chr5	38876363	38876363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttccaccaattctacgcGtcagagtttgcacttacaat	6	11	2	1	rs147223683		TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr5:38876363G>A	uc003jln.1	+	3	501	c.134G>A	c.(133-135)CGT>CAT	p.R45H	OSMR_uc003jlm.1_Missense_Mutation_p.R45H	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	45	Extracellular (Potential).				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)					AATTCTACGCGTCAGAGTTTG	0.358													A	38876363	G	A	38876363	3	1	95	1	0	0	0	0	1	0	0	0	11292	1145	40	1	140	1	OSMR	5	38876363	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	15353907	38876363	142038897	35	62858											
GPR98	84059	broad.mit.edu	37	chr5	90059209	90059209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaggaggaaaaggaaccGtccgacttgagtggaccata	12	11	0	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr5:90059209G>A	uc003kju.2	+	59	12304	c.12208G>A	c.(12208-12210)GTC>ATC	p.V4070I	GPR98_uc003kjt.2_Missense_Mutation_p.V1776I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	4070	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAAGGAACCGTCCGACTTGA	0.443													A	90059209	G	A	90059209	3	1	95	1	0	0	0	0	1	0	0	0	6721	1145	40	1	12442	1	GPR98	5	90059209	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	51182846	90059209	90856051	36	62859											
PCDHA3	56145	broad.mit.edu	37	chr5	140182233	140182233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgcgcgggacgcggacgCgcaggagaacgccctggtgt	18	12	1	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr5:140182233C>T	uc003lhf.2	+	1	1451	c.1451C>T	c.(1450-1452)GCG>GTG	p.A484V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A484V	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	484	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCGGACGCGCAGGAGAAC	0.667													T	140182233	C	T	140182233	3	4	95	1	0	0	0	0	1	0	0	0	11525	768	27	1	1453	1	PCDHA3	5	140182233	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	50123024	140182233	40733027	37	62860											
PCDHA3	56145	broad.mit.edu	37	chr5	140183035	140183035	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggagctggtcatactcGcagcagaggcagcagagggt	18	8	1	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr5:140183035G>A	uc003lhf.2	+	1	2253	c.2253G>A	c.(2251-2253)TCG>TCA	p.S751S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.S751S	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	751	Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCATACTCGCAGCAGAGGC	0.637													A	140183035	G	A	140183035	2	1	95	1	0	0	0	0	0	0	0	1	11525	1074	38	1		1	PCDHA3	5	140183035	Silent	SNP	G	TCGA-BR-8588-01A-11D-2394-08	802	140183035	40732225	38	62861											
ARHGEF37	389337	broad.mit.edu	37	chr5	148977438	148977438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcagaggctggctgtcCgggagctcatcgacactgag	13	11	3	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr5:148977438C>T	uc003lra.1	+	2	170	c.106C>T	c.(106-108)CGG>TGG	p.R36W		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	hypothetical protein LOC389337	36	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0						GCTGGCTGTCCGGGAGCTCAT	0.612													T	148977438	C	T	148977438	3	4	95	1	0	0	0	0	1	0	0	0	906	643	23	1	108	1	ARHGEF37	5	148977438	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	8794403	148977438	31937822	39	62862											
FAT2	2196	broad.mit.edu	37	chr5	150901562	150901562	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagatctccagtgggagaGcagaaggtgcatagtggctc	15	7	1	4			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr5:150901562G>T	uc003lue.3	-	18	10605	c.10592C>A	c.(10591-10593)GCT>GAT	p.A3531D	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.A224D	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3531	Extracellular (Potential).|Cadherin 31.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTGGGAGAGCAGAAGGTGC	0.567													T	150901562	G	T	150901562	3	4	95	1	0	0	0	0	1	0	0	0	5690	971	34	5	2481	5	FAT2	5	150901562	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	1924124	150901562	30013698	40	62863											
KIF4B	285643	broad.mit.edu	37	chr5	154395311	154395311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaaaggaatccacagagcGtactgtctccaagctgaacc	8	12	1	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr5:154395311G>A	uc010jih.1	+	1	2052	c.1892G>A	c.(1891-1893)CGT>CAT	p.R631H		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	631	Potential.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCCACAGAGCGTACTGTCTCC	0.443													A	154395311	G	A	154395311	3	1	95	1	0	0	0	0	1	0	0	0	8304	1145	40	1	1894	1	KIF4B	5	154395311	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	3493749	154395311	26519949	41	62864											
C5orf41	153222	broad.mit.edu	37	chr5	172517427	172517427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtcctggataatgaggGtgctttaacctcaaactggg	12	7	1	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr5:172517427G>A	uc003mch.2	+	4	549	c.245G>A	c.(244-246)GGT>GAT	p.G82D	C5orf41_uc003mcg.2_Missense_Mutation_p.G82D|C5orf41_uc003mcf.2_Missense_Mutation_p.G82D|C5orf41_uc011dfd.1_Missense_Mutation_p.G82D	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	luman-recruiting factor	82							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GATAATGAGGGTGCTTTAACC	0.413													A	172517427	G	A	172517427	3	1	95	1	0	0	0	0	1	0	0	0	2300	1261	44	4	255	4	C5orf41	5	172517427	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	18122116	172517427	8397833	42	62865											
FLT4	2324	broad.mit.edu	37	chr5	180056397	180056397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgggtctgctgggagcGtcgctcgggcacccacttac	15	12	1	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr5:180056397G>A	uc003mma.3	-	7	926	c.847C>T	c.(847-849)CGC>TGC	p.R283C	FLT4_uc003mlz.3_Missense_Mutation_p.R283C|FLT4_uc003mmb.1_Translation_Start_Site|FLT4_uc011dgy.1_Missense_Mutation_p.R283C|FLT4_uc011dgz.1_Intron	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	283	Ig-like C2-type 3.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGCTGGGAGCGTCGCTCGGGC	0.657									Congenital_Hereditary_Lymphedema				A	180056397	G	A	180056397	3	1	95	1	0	0	0	0	1	0	0	0	5944	1145	40	1	3348	1	FLT4	5	180056397	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	7538970	180056397	858863	43	62866											
SYCP2L	221711	broad.mit.edu	37	chr6	10894339	10894339	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aactagataaaaatgaatttCagtctgtgtcactgttgctg	8	6	3	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr6:10894339C>T	uc003mzo.2	+	4	534	c.238C>T	c.(238-240)CAG>TAG	p.Q80*	SYCP2L_uc011dim.1_RNA	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	80						nucleus				ovary(1)|skin(1)	2	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AAATGAATTTCAGTCTGTGTC	0.363													T	10894339	C	T	10894339	4	4	95	1	0	0	0	0	0	1	0	0	15430	827	29	4	252	4	SYCP2L	6	10894339	Nonsense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08		10894339	160220728	44	62867											
HIST1H2BC	8347	broad.mit.edu	37	chr6	26123998	26123998	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgggatggacctgtttcagCaccttgtacacgtacacaga	10	11	1	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr6:26123998C>A	uc003ngk.3	-	1	157	c.135G>T	c.(133-135)GTG>GTT	p.V45V	HIST1H2BC_uc003ngl.2_Silent_p.V45V|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank	NM_003526	NP_003517	P62807	H2B1C_HUMAN	histone cluster 1, H2bc	45					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1						CCTGTTTCAGCACCTTGTACA	0.527													A	26123998	C	A	26123998	2	1	95	1	0	0	0	0	0	0	0	1	7142	697	25	5		5	HIST1H2BC	6	26123998	Silent	SNP	C	TCGA-BR-8588-01A-11D-2394-08	15229659	26123998	144991069	45	62868											
HSPA1L	3305	broad.mit.edu	37	chr6	31778313	31778313	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattggcatcaatgtcaaaCgtcacctcgatctgaggaac	8	12	4	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr6:31778313C>T	uc003nxh.2	-	2	1620	c.1437G>A	c.(1435-1437)ACG>ACA	p.T479T	HSPA1L_uc010jte.2_Silent_p.T479T	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	479					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						CAATGTCAAACGTCACCTCGA	0.552													T	31778313	C	T	31778313	2	4	95	1	0	0	0	0	0	0	0	1	7410	523	19	1		1	HSPA1L	6	31778313	Silent	SNP	C	TCGA-BR-8588-01A-11D-2394-08	5654315	31778313	139336754	46	62869											
TNXB	7148	broad.mit.edu	37	chr6	32010312	32010312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgttgaggaagatggtgcTggtcctggaggcaccggctc	17	10	0	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr6:32010312T>C	uc003nzl.2	-	40	12326	c.12124A>G	c.(12124-12126)AGC>GGC	p.S4042G	TNXB_uc003nzg.1_Missense_Mutation_p.S473G|TNXB_uc003nzh.1_Missense_Mutation_p.S511G	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	4089	Fibrinogen C-terminal.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						AAGATGGTGCTGGTCCTGGAG	0.662													C	32010312	T	C	32010312	3	2	95	1	0	0	0	0	1	0	0	0	16343	1580	55	3	2609	3	TNXB	6	32010312	Missense_Mutation	SNP	T	TCGA-BR-8588-01A-11D-2394-08	231999	32010312	139104755	47	62870											
COL11A2	1302	broad.mit.edu	37	chr6	33136332	33136332	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggggtccattctccccGgtgggaccaggggatcccta	14	14	1	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr6:33136332G>A	uc003ocx.1	-	54	4152	c.3924C>T	c.(3922-3924)ACC>ACT	p.T1308T	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.T1222T|COL11A2_uc003ocz.1_Silent_p.T1201T	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1308	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						CATTCTCCCCGGTGGGACCAG	0.627													A	33136332	G	A	33136332	2	1	95	1	0	0	0	0	0	0	0	1	3668	1103	39	1		1	COL11A2	6	33136332	Silent	SNP	G	TCGA-BR-8588-01A-11D-2394-08	1126020	33136332	137978735	48	62871											
C6orf138	442213	broad.mit.edu	37	chr6	48036017	48036017	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggatcccctcagcctggagCaaaatattgtccccggttgg	11	12	1	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr6:48036017C>A	uc011dwm.1	-	1	409	c.324G>T	c.(322-324)TTG>TTT	p.L108F	C6orf138_uc011dwn.1_Intron|C6orf138_uc003ozf.2_Missense_Mutation_p.L125F	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	125						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1						CAGCCTGGAGCAAAATATTGT	0.537													A	48036017	C	A	48036017	3	1	95	1	0	0	0	0	1	0	0	0	2332	709	25	5	2177	5	C6orf138	6	48036017	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	14899685	48036017	123079050	49	62872											
HMGCLL1	54511	broad.mit.edu	37	chr6	55304324	55304324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataagggcagccacctaatcCggatactgcggagtccacca	10	13	0	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr6:55304324C>T	uc003pcn.2	-	9	1078	c.919G>A	c.(919-921)GGA>AGA	p.G307R	HMGCLL1_uc003pco.2_Missense_Mutation_p.G277R|HMGCLL1_uc010jzx.2_Missense_Mutation_p.G178R|HMGCLL1_uc011dxc.1_Missense_Mutation_p.G245R|HMGCLL1_uc011dxd.1_Missense_Mutation_p.G174R|HMGCLL1_uc011dxe.1_Missense_Mutation_p.G111R	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	307							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCACCTAATCCGGATACTGCG	0.418													T	55304324	C	T	55304324	3	4	95	1	0	0	0	0	1	0	0	0	7230	661	23	1	201	1	HMGCLL1	6	55304324	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	7268307	55304324	115810743	50	62873											
C6orf174	387104	broad.mit.edu	37	chr6	127796968	127796968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgaggccaggtcgtagcGctgcatgttggacataagca	15	9	0	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr6:127796968G>A	uc003qbd.2	-	6	3068	c.2203C>T	c.(2203-2205)CGC>TGC	p.R735C	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	735						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		AGGTCGTAGCGCTGCATGTTG	0.677													A	127796968	G	A	127796968	3	1	95	1	0	0	0	0	1	0	0	0	2345	1087	38	1	648	1	C6orf174	6	127796968	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	72492644	127796968	43318099	51	62874											
HIVEP2	3097	broad.mit.edu	37	chr6	143090937	143090937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcaagaagcaccaactcaCagtagttgttgtccgcagac	8	11	2	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr6:143090937C>T	uc003qjd.2	-	5	5682	c.4939G>A	c.(4939-4941)GTG>ATG	p.V1647M		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1647					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CACCAACTCACAGTAGTTGTT	0.478													T	143090937	C	T	143090937	3	4	95	1	0	0	0	0	1	0	0	0	7187	478	17	4	2425	4	HIVEP2	6	143090937	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	15293969	143090937	28024130	52	62875											
TTLL2	83887	broad.mit.edu	37	chr6	167753692	167753692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccggctgtggtgcaaagcGtcctcctggagagggggtgg	18	11	0	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr6:167753692G>A	uc003qvs.1	+	3	392	c.304G>A	c.(304-306)GTC>ATC	p.V102I	TTLL2_uc011egr.1_RNA	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	102	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGTGCAAAGCGTCCTCCTGGA	0.542													A	167753692	G	A	167753692	3	1	95	1	0	0	0	0	1	0	0	0	16724	1145	40	1	314	1	TTLL2	6	167753692	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	24662755	167753692	3361375	53	62876											
PDE1C	5137	broad.mit.edu	37	chr7	31862790	31862790	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagatgacagaattgttgatCggggcacttccctctgaacc	11	10	1	5			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr7:31862790C>T	uc003tcm.1	-	14	1948	c.1479G>A	c.(1477-1479)CCG>CCA	p.P493P	PDE1C_uc003tcn.1_Silent_p.P493P|PDE1C_uc003tco.1_Silent_p.P553P|PDE1C_uc003tcr.2_Silent_p.P493P|PDE1C_uc003tcs.2_Silent_p.P493P	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	493	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			AATTGTTGATCGGGGCACTTC	0.468													T	31862790	C	T	31862790	2	4	95	1	0	0	0	0	0	0	0	1	11635	871	31	1		1	PDE1C	7	31862790	Silent	SNP	C	TCGA-BR-8588-01A-11D-2394-08		31862790	127275873	54	62877											
GLI3	2737	broad.mit.edu	37	chr7	42007484	42007484	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatgggggactgttggctgCtgcatgaagactgaccacca	14	9	0	4			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr7:42007484C>A	uc011kbh.1	-	14	2232	c.2141G>T	c.(2140-2142)AGC>ATC	p.S714I	GLI3_uc011kbg.1_Missense_Mutation_p.S655I	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	714					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CTGTTGGCTGCTGCATGAAGA	0.532									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42007484	C	A	42007484	3	1	95	1	0	0	0	0	1	0	0	0	6439	797	28	5	2609	5	GLI3	7	42007484	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	10144694	42007484	117131179	55	62878											
HECW1	23072	broad.mit.edu	37	chr7	43503377	43503377	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gagggagtgactcagaagccGaatcttcccagtccagctta	11	11	2	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr7:43503377G>T	uc003tid.1	+	14	3375	c.2770G>T	c.(2770-2772)GAA>TAA	p.E924*	HECW1_uc011kbi.1_Nonsense_Mutation_p.E890*	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	924					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						CTCAGAAGCCGAATCTTCCCA	0.587													T	43503377	G	T	43503377	4	4	95	1	0	0	0	0	0	1	0	0	7042	1059	37	5	2816	5	HECW1	7	43503377	Nonsense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	1495893	43503377	115635286	56	62879											
MYO1G	64005	broad.mit.edu	37	chr7	45005235	45005235	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgggctgagagtagtaCctgcagaagagtgcgtggca	18	6	0	3			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr7:45005235C>A	uc003tmh.2	-	17	2525	c.2381_splice	c.e17+1	p.R794_splice	MYO1G_uc003tmf.2_Splice_Site_p.R237_splice|MYO1G_uc003tmg.2_Splice_Site_p.R556_splice|MYO1G_uc010kym.2_Splice_Site_p.R679_splice	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	myosin IG							myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|ovary(1)|pancreas(1)	4						GAGAGTAGTACCTGCAGAAGA	0.607													A	45005235	C	A	45005235	5	1	95	1	0	0	0	0	0	0	1	0	10074	521	18	5	698	5	MYO1G	7	45005235	Splice_Site	SNP	C	TCGA-BR-8588-01A-11D-2394-08	1501858	45005235	114133428	57	62880											
SMO	6608	broad.mit.edu	37	chr7	128845479	128845479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtggctgactggcggaactCgaatcgctaccctgctgtta	12	12	0	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr7:128845479C>T	uc003vor.2	+	4	1056	c.776C>T	c.(775-777)TCG>TTG	p.S259L	SMO_uc003vos.2_5'Flank	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	259	Cytoplasmic (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						TGGCGGAACTCGAATCGCTAC	0.547			Mis		skin basal cell 								T	128845479	C	T	128845479	3	4	95	1	0	0	0	0	1	0	0	0	14800	893	31	1	790	1	SMO	7	128845479	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	83840244	128845479	30293184	58	62881											
LOXL2	4017	broad.mit.edu	37	chr8	23225708	23225708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagctgaatcttggccaCgttggcgggggcctggggct	18	11	1	1	rs138503568	byFrequency	TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr8:23225708C>T	uc003xdh.1	-	2	496	c.157G>A	c.(157-159)GTG>ATG	p.V53M		NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	53					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	p.Q48_A54delQAPANVA(1)|p.Q48_A54del(1)		breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		ATCTTGGCCACGTTGGCGGGG	0.642													T	23225708	C	T	23225708	3	4	95	1	0	0	0	0	1	0	0	0	8900	536	19	1	2219	1	LOXL2	8	23225708	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08		23225708	123138314	59	62882											
MMP16	4325	broad.mit.edu	37	chr8	89209420	89209420	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccacttttcctgtcatgTtaatgccatagaactgctgc	7	11	1	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr8:89209420T>G	uc003yeb.3	-	2	530	c.248A>C	c.(247-249)AAC>ACC	p.N83T	MMP16_uc003yec.2_Missense_Mutation_p.N83T	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	83					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						TCCTGTCATGTTAATGCCATA	0.483													G	89209420	T	G	89209420	3	3	95	1	0	0	0	0	1	0	0	0	9655	1725	60	5	1767	5	MMP16	8	89209420	Missense_Mutation	SNP	T	TCGA-BR-8588-01A-11D-2394-08	65983712	89209420	57154602	60	62883											
RNF19A	25897	broad.mit.edu	37	chr8	101300277	101300277	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagcagaggactgaagatcTcgatctgaacccatttgccg	11	10	2	4			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr8:101300277T>A	uc003yjj.1	-	3	443	c.126A>T	c.(124-126)CGA>CGT	p.R42R	RNF19A_uc003yjk.1_Silent_p.R42R|RNF19A_uc003yjl.1_Silent_p.R42R	NM_015435	NP_056250	Q9NV58	RN19A_HUMAN	ring finger protein 19	42					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ACTGAAGATCTCGATCTGAAC	0.408													A	101300277	T	A	101300277	2	1	95	1	0	0	0	0	0	0	0	1	13470	1538	54	5		5	RNF19A	8	101300277	Silent	SNP	T	TCGA-BR-8588-01A-11D-2394-08	12090857	101300277	45063745	61	62884											
CSMD3	114788	broad.mit.edu	37	chr8	113933924	113933924	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgttgacaggtgatgctcTttgcgccctgtaggacataa	11	10	1	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr8:113933924T>C	uc003ynu.2	-	10	1724	c.1565A>G	c.(1564-1566)AAG>AGG	p.K522R	CSMD3_uc003ynt.2_Missense_Mutation_p.K482R|CSMD3_uc011lhx.1_Missense_Mutation_p.K418R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	522	Extracellular (Potential).|Sushi 2.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GGTGATGCTCTTTGCGCCCTG	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113933924	T	C	113933924	3	2	95	1	0	0	0	0	1	0	0	0	3946	1609	56	3	9806	3	CSMD3	8	113933924	Missense_Mutation	SNP	T	TCGA-BR-8588-01A-11D-2394-08	12633647	113933924	32430098	62	62885											
ADAMTSL2	9719	broad.mit.edu	37	chr9	136409627	136409627	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacatcccggctggtgccCgagacatccagattgtagag	11	14	0	3			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr9:136409627C>T	uc011mdl.1	+	8	1275	c.718C>T	c.(718-720)CGA>TGA	p.R240*	ADAMTSL2_uc004cei.2_Nonsense_Mutation_p.R240*	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN	ADAMTS-like 2 precursor	240					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GGCTGGTGCCCGAGACATCCA	0.577													T	136409627	C	T	136409627	4	4	95	1	0	0	0	0	0	1	0	0	275	644	23	1	744	1	ADAMTSL2	9	136409627	Nonsense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08		136409627	4803804	63	62886											
OLFM1	10439	broad.mit.edu	37	chr9	138012012	138012012	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttccacgtcatccgctcCgacgagttgtagctccctcc	7	18	2	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr9:138012012C>T	uc010nar.2	+	6	1762	c.1446C>T	c.(1444-1446)TCC>TCT	p.S482S	OLFM1_uc004cfl.3_Silent_p.S464S|OLFM1_uc004cfn.3_Silent_p.S233S	NM_014279	NP_055094	Q99784	NOE1_HUMAN	olfactomedin related ER localized protein	482	Prevents secretion from ER (Potential).				nervous system development	endoplasmic reticulum lumen	protein binding			ovary(1)|skin(1)	2		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TCATCCGCTCCGACGAGTTGT	0.557													T	138012012	C	T	138012012	2	4	95	1	0	0	0	0	0	0	0	1	10852	639	23	1		1	OLFM1	9	138012012	Silent	SNP	C	TCGA-BR-8588-01A-11D-2394-08	1602385	138012012	3201419	64	62887											
CHST3	9469	broad.mit.edu	37	chr10	73767375	73767375	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcgacgtgctcaagcagctcTtcctgtgcgacctgtacgtg	12	13	2	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr10:73767375T>A	uc001jsn.2	+	3	1026	c.586T>A	c.(586-588)TTC>ATC	p.F196I		NM_004273	NP_004264	Q7LGC8	CHST3_HUMAN	chondroitin 6-sulfotransferase 3	196	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity				0						CAAGCAGCTCTTCCTGTGCGA	0.682													A	73767375	T	A	73767375	3	1	95	1	0	0	0	0	1	0	0	0	3405	1609	56	5	592	5	CHST3	10	73767375	Missense_Mutation	SNP	T	TCGA-BR-8588-01A-11D-2394-08		73767375	61767372	65	62888											
ACTR1A	10121	broad.mit.edu	37	chr10	104244121	104244121	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcaccacccctgtggtcctGcctgtagcgtaactgaagca	10	14	0	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr10:104244121G>T	uc001kvv.2	-	6	561	c.453C>A	c.(451-453)GGC>GGA	p.G151G	ACTR1A_uc010qqn.1_Silent_p.G77G|ACTR1A_uc010qqo.1_Silent_p.G104G	NM_005736	NP_005727	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A,	151					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)	1		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CTGTGGTCCTGCCTGTAGCGT	0.537													T	104244121	G	T	104244121	2	4	95	1	0	0	0	0	0	0	0	1	209	1306	46	5		5	ACTR1A	10	104244121	Silent	SNP	G	TCGA-BR-8588-01A-11D-2394-08	30476746	104244121	31290626	66	62889											
CPXM2	119587	broad.mit.edu	37	chr10	125539751	125539751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtcatctcgttccggcGgtgataataattattaggat	12	6	2	1	rs145723018		TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr10:125539751G>A	uc001lhk.1	-	7	1235	c.910C>T	c.(910-912)CGC>TGC	p.R304C	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	304					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TCGTTCCGGCGGTGATAATAA	0.453													A	125539751	G	A	125539751	3	1	95	1	0	0	0	0	1	0	0	0	3838	1116	39	1	1392	1	CPXM2	10	125539751	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	21295630	125539751	9994996	67	62890											
OR51A7	119687	broad.mit.edu	37	chr11	4929383	4929383	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaccctggctgccatgcatCactttgccaagcacaaaagc	7	15	2	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr11:4929383C>T	uc010qyq.1	+	1	784	c.784C>T	c.(784-786)CAC>TAC	p.H262Y		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCCATGCATCACTTTGCCAA	0.488													T	4929383	C	T	4929383	3	4	95	1	0	0	0	0	1	0	0	0	11088	826	29	4	786	4	OR51A7	11	4929383	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08		4929383	130077133	68	62891											
OR4C6	219432	broad.mit.edu	37	chr11	55432816	55432816	+	Frame_Shift_Del	DEL	T	T	-													agtctgaggtcacctatgtaTttttttcttaccttcttgtc							TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr11:55432815_55432815AT>A	uc010rik.2	+	0	173	c.173_173AT>A	c.(172-174)tatfs	p.Y58fs		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M57I(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCACCTATGTATTTTTTTCTT	0.418													-	55432816	T	-	55432816	7	5	95	1	0	1	0	1	0	0	0	0	11052	1500	52	0	176	0	OR4C6	11	55432816	Frame_Shift_Del	DEL	T	TCGA-BR-8588-01A-11D-2394-08	50503433	55432816	79573700	69	62892											
OR5M3	219482	broad.mit.edu	37	chr11	56237908	56237908	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagatgatgaagaagagaacTtgccattctcgacggctcgt	11	8	1	5			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr11:56237908T>G	uc010rjk.1	-	1	66	c.66A>C	c.(64-66)CAA>CAC	p.Q22H		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					AGAAGAGAACTTGCCATTCTC	0.418													G	56237908	T	G	56237908	3	3	95	1	0	0	0	0	1	0	0	0	11175	1606	56	5	859	5	OR5M3	11	56237908	Missense_Mutation	SNP	T	TCGA-BR-8588-01A-11D-2394-08	805092	56237908	78768608	70	62893											
SF3B2	10992	broad.mit.edu	37	chr11	65825873	65825873	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagtgtccgtatctaaaaaGgaggtagggattggagctga	14	5	1	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr11:65825873G>T	uc001ogy.1	+	9	1003	c.963G>T	c.(961-963)AAG>AAT	p.K321N		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	321					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						TATCTAAAAAGGAGGTAGGGA	0.463													T	65825873	G	T	65825873	3	4	95	1	0	0	0	0	1	0	0	0	14151	991	35	5	997	5	SF3B2	11	65825873	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	9587965	65825873	69180643	71	62894											
DLG2	1740	broad.mit.edu	37	chr11	84996396	84996396	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttagcaatgtcacctcataAaattcttggatatctgtaaa	5	7	4	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr11:84996396A>C	uc001pak.2	-	4	366	c.54T>G	c.(52-54)TTT>TTG	p.F18L		NM_001142699	NP_001136171	Q15700	DLG2_HUMAN	chapsyn-110 isoform 1	Error:Variant_position_missing_in_Q15700_after_alignment						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCACCTCATAAAATTCTTGGA	0.333													C	84996396	A	C	84996396	3	2	95	1	0	0	0	0	1	0	0	0	4555	11	1	5	3178	5	DLG2	11	84996396	Missense_Mutation	SNP	A	TCGA-BR-8588-01A-11D-2394-08	19170523	84996396	50010120	72	62895											
GUCY1A2	2977	broad.mit.edu	37	chr11	106888532	106888532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgagtccaggttgacccGcctccggcgctgcaccctcc	11	19	0	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr11:106888532G>A	uc001pjg.1	-	1	640	c.250C>T	c.(250-252)CGG>TGG	p.R84W	GUCY1A2_uc010rvo.1_Missense_Mutation_p.R84W|GUCY1A2_uc009yxn.1_Missense_Mutation_p.R84W	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	84					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AGGTTGACCCGCCTCCGGCGC	0.483													A	106888532	G	A	106888532	3	1	95	1	0	0	0	0	1	0	0	0	6893	1086	38	1	1980	1	GUCY1A2	11	106888532	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	21892136	106888532	28117984	73	62896											
C11orf87	399947	broad.mit.edu	37	chr11	109294782	109294782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgggactctcccttctgCgccccttccaacgcctcgtc	7	22	2	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr11:109294782C>T	uc001pkn.2	+	2	797	c.423C>T	c.(421-423)TGC>TGT	p.C141C	C11orf87_uc010rwb.1_5'Flank	NM_207645	NP_997528	Q6NUJ2	CK087_HUMAN	hypothetical protein LOC399947 precursor	141	Cytoplasmic (Potential).					integral to membrane				ovary(2)	2						CTCCCTTCTGCGCCCCTTCCA	0.721													T	109294782	C	T	109294782	2	4	95	1	0	0	0	0	0	0	0	1	1669	776	27	1		1	C11orf87	11	109294782	Silent	SNP	C	TCGA-BR-8588-01A-11D-2394-08	2406250	109294782	25711734	74	62897											
SIK3	23387	broad.mit.edu	37	chr11	116734447	116734447	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggtgagctttgaaggcctgGatgctcgcagccccatctga	13	11	1	3			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr11:116734447G>T	uc001ppy.2	-	15	1758	c.1722C>A	c.(1720-1722)ATC>ATA	p.I574I	SIK3_uc001ppz.2_Silent_p.I473I|SIK3_uc001pqa.2_Silent_p.I574I|SIK3_uc001ppw.2_5'UTR|SIK3_uc001ppx.2_Missense_Mutation_p.S49Y|SIK3_uc001pqb.2_5'Flank	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	574						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						TGAAGGCCTGGATGCTCGCAG	0.552													T	116734447	G	T	116734447	2	4	95	1	0	0	0	0	0	0	0	1	14319	1164	41	5		5	SIK3	11	116734447	Silent	SNP	G	TCGA-BR-8588-01A-11D-2394-08	7439665	116734447	18272069	75	62898											
OR8G2	26492	broad.mit.edu	37	chr11	124095807	124095807	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacggcatatgaccgctatgTtgccatctgcagccccttgc	9	14	1	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr11:124095807T>G	uc010saf.1	+	1	410	c.410T>G	c.(409-411)GTT>GGT	p.V137G		NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN	olfactory receptor, family 8, subfamily G,	137						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GACCGCTATGTTGCCATCTGC	0.458													G	124095807	T	G	124095807	3	3	95	1	0	0	0	0	1	0	0	0	11235	1725	60	5	412	5	OR8G2	11	124095807	Missense_Mutation	SNP	T	TCGA-BR-8588-01A-11D-2394-08	7361360	124095807	10910709	76	62899											
RPUSD4	84881	broad.mit.edu	37	chr11	126075385	126075385	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgatgggctggagctccacGagggcggaggagagagtgct	20	7	0	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr11:126075385G>A	uc001qde.2	-	5	828	c.774C>T	c.(772-774)CTC>CTT	p.L258L	RPUSD4_uc010sbl.1_Silent_p.L65L|RPUSD4_uc009zbz.2_Silent_p.L227L|RPUSD4_uc009zby.2_RNA	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	258					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)	1	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		GGAGCTCCACGAGGGCGGAGG	0.577													A	126075385	G	A	126075385	2	1	95	1	0	0	0	0	0	0	0	1	13669	1045	37	1		1	RPUSD4	11	126075385	Silent	SNP	G	TCGA-BR-8588-01A-11D-2394-08	1979578	126075385	8931131	77	62900											
KCNA1	3736	broad.mit.edu	37	chr12	5021222	5021222	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttcttcatcgtggaaacGctgtgtatcatctggttctc	8	12	5	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr12:5021222G>A	uc001qnh.2	+	2	1783	c.678G>A	c.(676-678)ACG>ACA	p.T226T		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	226	Helical; Name=Segment S2; (Potential).		T -> M (in EA1).|T -> A (in EA1).		synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCGTGGAAACGCTGTGTATCA	0.507													A	5021222	G	A	5021222	2	1	95	1	0	0	0	0	0	0	0	1	8001	1074	38	1		1	KCNA1	12	5021222	Silent	SNP	G	TCGA-BR-8588-01A-11D-2394-08		5021222	128830673	78	62901											
CLEC4D	338339	broad.mit.edu	37	chr12	8672848	8672848	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attattcagtttctggatagAcggctttcctatttccttgg	8	8	2	1	rs138110414	byFrequency	TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr12:8672848A>G	uc001qun.2	+	5	604	c.411A>G	c.(409-411)AGA>AGG	p.R137R		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	137	C-type lectin.|Extracellular (Potential).				innate immune response	integral to membrane	sugar binding				0	Lung SC(5;0.184)					TTCTGGATAGACGGCTTTCCT	0.383													G	8672848	A	G	8672848	2	3	95	1	0	0	0	0	0	0	0	1	3514	272	10	3		3	CLEC4D	12	8672848	Silent	SNP	A	TCGA-BR-8588-01A-11D-2394-08	3651626	8672848	125179047	79	62902											
ARID2	196528	broad.mit.edu	37	chr12	46246234	46246234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggcaacacagcaatttaGtggtactgatttgcttaatg	10	7	0	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr12:46246234G>A	uc001ros.1	+	15	4328	c.4328G>A	c.(4327-4329)AGT>AAT	p.S1443N	ARID2_uc001ror.2_Missense_Mutation_p.S1443N|ARID2_uc009zkg.1_Missense_Mutation_p.S899N|ARID2_uc009zkh.1_Missense_Mutation_p.S1070N|ARID2_uc001rou.1_Missense_Mutation_p.S777N	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1443					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CAGCAATTTAGTGGTACTGAT	0.423													A	46246234	G	A	46246234	3	1	95	1	0	0	0	0	1	0	0	0	915	1029	36	4	4386	4	ARID2	12	46246234	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	37573386	46246234	87605661	80	62903											
CCNT1	904	broad.mit.edu	37	chr12	49087216	49087216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagggaagaggatttagtaCtcttggcaatcttggctgga	13	5	2	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr12:49087216C>T	uc001rse.1	-	9	2104	c.1781G>A	c.(1780-1782)AGT>AAT	p.S594N	LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.S309N	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	594	Ser-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			ovary(3)|lung(1)|breast(1)|skin(1)	6						GGATTTAGTACTCTTGGCAAT	0.468													T	49087216	C	T	49087216	3	4	95	1	0	0	0	0	1	0	0	0	2934	565	20	4	403	4	CCNT1	12	49087216	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	2840982	49087216	84764679	81	62904											
RND1	27289	broad.mit.edu	37	chr12	49255803	49255803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtcttaccttcttgagtgCgctgtccactgtctctggac	9	12	3	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr12:49255803C>T	uc001rsn.2	-	3	410	c.307G>A	c.(307-309)GCA>ACA	p.A103T		NM_014470	NP_055285	Q92730	RND1_HUMAN	GTP-binding protein RHO6 precursor	103					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			ovary(1)	1						TTCTTGAGTGCGCTGTCCACT	0.433													T	49255803	C	T	49255803	3	4	95	1	0	0	0	0	1	0	0	0	13419	768	27	1	403	1	RND1	12	49255803	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	168587	49255803	84596092	82	62905											
ACVR1B	91	broad.mit.edu	37	chr12	52385743	52385743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatgtgatcagaagctgcGtcccaacatccccaactggt	9	12	1	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr12:52385743G>A	uc001rzn.2	+	8	1400	c.1358G>A	c.(1357-1359)CGT>CAT	p.R453H	ACVR1B_uc001rzm.2_Missense_Mutation_p.R453H|ACVR1B_uc010snn.1_Missense_Mutation_p.R494H	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	453	Protein kinase.|Cytoplasmic (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CAGAAGCTGCGTCCCAACATC	0.493													A	52385743	G	A	52385743	3	1	95	1	0	0	0	0	1	0	0	0	221	1145	40	1	1515	1	ACVR1B	12	52385743	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	3129940	52385743	81466152	83	62906											
SRGAP1	57522	broad.mit.edu	37	chr12	64521762	64521762	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttgacctagggtccccaAgccttgccagtcacccccgg	10	17	1	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr12:64521762A>G	uc010ssp.1	+	21	2718	c.2662A>G	c.(2662-2664)AGC>GGC	p.S888G	SRGAP1_uc001srv.2_Missense_Mutation_p.S825G	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	888					axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AGGGTCCCCAAGCCTTGCCAG	0.632													G	64521762	A	G	64521762	3	3	95	1	0	0	0	0	1	0	0	0	15144	72	3	3	2744	3	SRGAP1	12	64521762	Missense_Mutation	SNP	A	TCGA-BR-8588-01A-11D-2394-08	12136019	64521762	69330133	84	62907											
MGAT4C	25834	broad.mit.edu	37	chr12	86383233	86383233	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaggagaaaaatgacaagaActcccaagaatgacactgta	8	7	0	5			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr12:86383233A>T	uc001tai.3	-	6	1342	c.92T>A	c.(91-93)GTT>GAT	p.V31D	MGAT4C_uc001tal.3_Missense_Mutation_p.V31D|MGAT4C_uc001taj.3_Missense_Mutation_p.V31D|MGAT4C_uc001tak.3_Missense_Mutation_p.V31D|MGAT4C_uc010sum.1_Missense_Mutation_p.V55D|MGAT4C_uc001tah.3_Missense_Mutation_p.V31D	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	31	Helical; Signal-anchor for type II membrane protein; (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(3)	3						AATGACAAGAACTCCCAAGAA	0.313													T	86383233	A	T	86383233	3	4	95	1	0	0	0	0	1	0	0	0	9547	43	2	5	1356	5	MGAT4C	12	86383233	Missense_Mutation	SNP	A	TCGA-BR-8588-01A-11D-2394-08	21861471	86383233	47468662	85	62908											
HNF1A	6927	broad.mit.edu	37	chr12	121435358	121435358	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccctgcagcccgtccagtTctcccagccgctgcacccct	7	22	1	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr12:121435358T>C	uc001tzg.2	+	7	1414	c.1391T>C	c.(1390-1392)TTC>TCC	p.F464S	HNF1A_uc001tzf.2_Missense_Mutation_p.F464S|HNF1A_uc010szn.1_Missense_Mutation_p.F464S	NM_000545	NP_000536	P20823	HNF1A_HUMAN	hepatic nuclear factor-1-alpha	464					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1)	116	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCCGTCCAGTTCTCCCAGCCG	0.662									Hepatic_Adenoma_Familial_Clustering_of				C	121435358	T	C	121435358	3	2	95	1	0	0	0	0	1	0	0	0	7251	1783	62	3	1417	3	HNF1A	12	121435358	Missense_Mutation	SNP	T	TCGA-BR-8588-01A-11D-2394-08	35052125	121435358	12416537	86	62909											
RASL11A	387496	broad.mit.edu	37	chr13	27847440	27847440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccttgaaatttccactagcGaaaactacgaagatgtctgt	7	9	1	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr13:27847440G>A	uc001urd.1	+	4	1156	c.538G>A	c.(538-540)GAA>AAA	p.E180K		NM_206827	NP_996563	Q6T310	RSLBA_HUMAN	RAS-like, family 11, member A	180	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(1)	1		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		TTCCACTAGCGAAAACTACGA	0.517													A	27847440	G	A	27847440	3	1	95	1	0	0	0	0	1	0	0	0	13081	1059	37	1	552	1	RASL11A	13	27847440	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08		27847440	87322438	87	62910											
SLC7A1	6541	broad.mit.edu	37	chr13	30097526	30097526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagtagggcatcatgagcGtgagggcagccgacacccca	14	11	1	3			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr13:30097526G>A	uc001uso.2	-	7	1313	c.926C>T	c.(925-927)ACG>ATG	p.T309M		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	309	Extracellular (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CATCATGAGCGTGAGGGCAGC	0.612													A	30097526	G	A	30097526	3	1	95	1	0	0	0	0	1	0	0	0	14692	1145	40	1	991	1	SLC7A1	13	30097526	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	2250086	30097526	85072352	88	62911											
FGF14	2259	broad.mit.edu	37	chr13	102568988	102568988	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaagccgctagcgatggccGcggccatggtggccccggga	16	14	1	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr13:102568988G>T	uc001vpe.2	-	1	8	c.8C>A	c.(7-9)GCG>GAG	p.A3E	FGF14_uc001vpf.2_Intron	NM_004115	NP_004106	Q92915	FGF14_HUMAN	fibroblast growth factor 14 isoform 1A	3					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			ovary(2)|lung(1)|large_intestine(1)	4	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCGATGGCCGCGGCCATGGT	0.761													T	102568988	G	T	102568988	3	4	95	1	0	0	0	0	1	0	0	0	5843	1087	38	5	755	5	FGF14	13	102568988	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	72471462	102568988	12600890	89	62912											
ATP11A	23250	broad.mit.edu	37	chr13	113508679	113508679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgggagacaagatggagaCggccgcggccacgtgctacg	16	12	0	3			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr13:113508679C>T	uc001vsi.3	+	19	2166	c.2078C>T	c.(2077-2079)ACG>ATG	p.T693M	ATP11A_uc001vsj.3_Missense_Mutation_p.T693M|ATP11A_uc001vsm.1_Missense_Mutation_p.T569M|ATP11A_uc010ago.2_RNA	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	693	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AAGATGGAGACGGCCGCGGCC	0.622													T	113508679	C	T	113508679	3	4	95	1	0	0	0	0	1	0	0	0	1119	536	19	1	2152	1	ATP11A	13	113508679	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	10939691	113508679	1661199	90	62913											
MCF2L	23263	broad.mit.edu	37	chr13	113750783	113750783	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagctggtgcaggagggCgacgagggcctctggtaaga	20	7	1	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr13:113750783C>T	uc001vsu.2	+	28	3367	c.3345C>T	c.(3343-3345)GGC>GGT	p.G1115G	MCF2L_uc001vsq.2_Silent_p.G1115G|MCF2L_uc010tjr.1_Silent_p.G1058G|MCF2L_uc001vsr.2_Silent_p.G1062G|MCF2L_uc010tjs.1_Silent_p.G1056G	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	1088	SH3.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TGCAGGAGGGCGACGAGGGCC	0.697													T	113750783	C	T	113750783	2	4	95	1	0	0	0	0	0	0	0	1	9379	755	27	1		1	MCF2L	13	113750783	Silent	SNP	C	TCGA-BR-8588-01A-11D-2394-08	242104	113750783	1419095	91	62914											
SYNE2	23224	broad.mit.edu	37	chr14	64681128	64681128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgggaccacacaggcgacGtggggggctcctcctctcac	14	14	1	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr14:64681128G>A	uc001xgm.2	+	106	19503	c.19273G>A	c.(19273-19275)GTG>ATG	p.V6425M	SYNE2_uc001xgl.2_Missense_Mutation_p.V6425M|SYNE2_uc010apy.2_Missense_Mutation_p.V2810M|SYNE2_uc001xgn.2_Missense_Mutation_p.V1387M|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.V395M|SYNE2_uc001xgq.2_Missense_Mutation_p.V790M|SYNE2_uc001xgr.2_Missense_Mutation_p.V208M|SYNE2_uc010tsi.1_Missense_Mutation_p.V59M|SYNE2_uc001xgs.2_Missense_Mutation_p.V59M|SYNE2_uc001xgt.2_5'Flank	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6425	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CACAGGCGACGTGGGGGGCTC	0.642													A	64681128	G	A	64681128	3	1	95	1	0	0	0	0	1	0	0	0	15443	1145	40	1	19691	1	SYNE2	14	64681128	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08		64681128	42668412	92	62915											
ZFYVE26	23503	broad.mit.edu	37	chr14	68264796	68264796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagagacaaccttggaaagtCgatgcaggcggctctgcagt	13	10	1	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr14:68264796C>T	uc001xka.2	-	11	2322	c.2183G>A	c.(2182-2184)CGA>CAA	p.R728Q	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.R728Q|ZFYVE26_uc010tta.1_Missense_Mutation_p.R728Q	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	728					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTTGGAAAGTCGATGCAGGCG	0.552													T	68264796	C	T	68264796	3	4	95	1	0	0	0	0	1	0	0	0	17665	884	31	1	5564	1	ZFYVE26	14	68264796	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	3583668	68264796	39084744	93	62916											
MTMR10	54893	broad.mit.edu	37	chr15	31244239	31244239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgaatgcttaaggaatGccctgaagagagaaaaggaa	12	6	0	4			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr15:31244239G>A	uc001zfh.1	-	12	1237	c.1139C>T	c.(1138-1140)GCA>GTA	p.A380V	MTMR10_uc001zfg.1_5'Flank|MTMR10_uc010azx.1_Missense_Mutation_p.A132V|MTMR10_uc001zfi.1_Missense_Mutation_p.A132V|MTMR10_uc001zfj.2_Missense_Mutation_p.A298V|MTMR10_uc001zfk.2_Missense_Mutation_p.A132V	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	380	Myotubularin phosphatase.						phosphatase activity			ovary(1)	1		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CTTAAGGAATGCCCTGAAGAG	0.353													A	31244239	G	A	31244239	3	1	95	1	0	0	0	0	1	0	0	0	9939	1319	46	2	1214	2	MTMR10	15	31244239	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08		31244239	71287153	94	62917											
HS3ST6	64711	broad.mit.edu	37	chr16	1962078	1962078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcccgggtcacggggttcCgcaccaccacgatcagcttc	12	16	2	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr16:1962078C>T	uc002cnf.2	-	2	449	c.449G>A	c.(448-450)CGG>CAG	p.R150Q		NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine)	150											0						CACGGGGTTCCGCACCACCAC	0.697													T	1962078	C	T	1962078	3	4	95	1	0	0	0	0	1	0	0	0	7369	652	23	1	490	1	HS3ST6	16	1962078	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08		1962078	88392675	95	62918											
RAB26	25837	broad.mit.edu	37	chr16	2201750	2201750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttacccatgcctactacCgggatgctcatggtgagccc	11	13	1	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr16:2201750C>T	uc002cou.2	+	4	537	c.403C>T	c.(403-405)CGG>TGG	p.R135W	RAB26_uc010bsf.2_Missense_Mutation_p.R69W	NM_014353	NP_055168	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	135					exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding				0						TGCCTACTACCGGGATGCTCA	0.632													T	2201750	C	T	2201750	3	4	95	1	0	0	0	0	1	0	0	0	12913	643	23	1	417	1	RAB26	16	2201750	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	239672	2201750	88153003	96	62919											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25258325	25258325	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagcttttctggagactttTgaacttggttcgacactgtt	9	7	1	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr16:25258325T>C	uc002dod.3	-	5	1599	c.1192A>G	c.(1192-1194)AAA>GAA	p.K398E	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.K194E|ZKSCAN2_uc002doe.2_Missense_Mutation_p.K398E	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	398					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		TGGAGACTTTTGAACTTGGTT	0.507													C	25258325	T	C	25258325	3	2	95	1	0	0	0	0	1	0	0	0	17684	1821	63	3	1723	3	ZKSCAN2	16	25258325	Missense_Mutation	SNP	T	TCGA-BR-8588-01A-11D-2394-08	23056575	25258325	65096428	97	62920											
ZNF668	79759	broad.mit.edu	37	chr16	31073217	31073217	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcccaggacgccacgaaCgtcttgtcacattgcaggca	11	13	2	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr16:31073217C>T	uc010caf.2	-	3	1389	c.1032G>A	c.(1030-1032)ACG>ACA	p.T344T	ZNF668_uc002eao.2_Silent_p.T344T	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	344	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4						ACGCCACGAACGTCTTGTCAC	0.682													T	31073217	C	T	31073217	2	4	95	1	0	0	0	0	0	0	0	1	18072	523	19	1		1	ZNF668	16	31073217	Silent	SNP	C	TCGA-BR-8588-01A-11D-2394-08	5814892	31073217	59281536	98	62921											
MYLK3	91807	broad.mit.edu	37	chr16	46761267	46761267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttctcatctgtgatccggtCgaagagctcacccccgtcca	8	16	3	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr16:46761267C>T	uc002eei.3	-	8	1911	c.1795G>A	c.(1795-1797)GAC>AAC	p.D599N	MYLK3_uc010vge.1_Missense_Mutation_p.D258N|MYLK3_uc002eej.1_Missense_Mutation_p.D258N	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	599	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GTGATCCGGTCGAAGAGCTCA	0.562													T	46761267	C	T	46761267	3	4	95	1	0	0	0	0	1	0	0	0	10058	884	31	1	688	1	MYLK3	16	46761267	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	15688050	46761267	43593486	99	62922											
CX3CL1	6376	broad.mit.edu	37	chr16	57416298	57416298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatggagggcctgtgggcaCggagcttttccgagtgcctc	17	10	0	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr16:57416298C>T	uc002eli.2	+	3	615	c.548C>T	c.(547-549)ACG>ATG	p.T183M		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	183	Mucin-like stalk.|Extracellular (Potential).				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity				0						CCTGTGGGCACGGAGCTTTTC	0.682													T	57416298	C	T	57416298	3	4	95	1	0	0	0	0	1	0	0	0	4074	536	19	1	558	1	CX3CL1	16	57416298	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	10655031	57416298	32938455	100	62923											
CTCF	10664	broad.mit.edu	37	chr16	67654694	67654694	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcagggacacatacaagcTgaaaaggcacatgagaaccc	10	11	0	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr16:67654694T>C	uc002etl.2	+	6	1471	c.1181T>C	c.(1180-1182)CTG>CCG	p.L394P	CTCF_uc010cek.2_Missense_Mutation_p.L66P	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	394	C2H2-type 5.				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		ACATACAAGCTGAAAAGGCAC	0.468													C	67654694	T	C	67654694	3	2	95	1	0	0	0	0	1	0	0	0	4000	1580	55	3	1195	3	CTCF	16	67654694	Missense_Mutation	SNP	T	TCGA-BR-8588-01A-11D-2394-08	10238396	67654694	22700059	101	62924											
NEURL4	84461	broad.mit.edu	37	chr17	7224756	7224756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgtcatctgccccccgaCgaacacccacacggctcccc	7	21	2	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr17:7224756C>T	uc002gga.1	-	19	3129	c.3122G>A	c.(3121-3123)CGT>CAT	p.R1041H	NEURL4_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|NEURL4_uc002ggb.1_Missense_Mutation_p.R1039H	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	1041	NHR 5.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						TGCCCCCCGACGAACACCCAC	0.622													T	7224756	C	T	7224756	3	4	95	1	0	0	0	0	1	0	0	0	10347	536	19	1	1610	1	NEURL4	17	7224756	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08		7224756	73970454	102	62925											
RAB11FIP4	84440	broad.mit.edu	37	chr17	29855754	29855754	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgagttcaatgccagggcCcgcgaggtggagctcgagca	17	11	1	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr17:29855754C>T	uc002hgn.1	+	13	1840	c.1611C>T	c.(1609-1611)GCC>GCT	p.A537A	RAB11FIP4_uc002hgo.2_Silent_p.A435A	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	537	Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			skin(1)	1		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				ATGCCAGGGCCCGCGAGGTGG	0.672													T	29855754	C	T	29855754	2	4	95	1	0	0	0	0	0	0	0	1	12896	610	22	4		4	RAB11FIP4	17	29855754	Silent	SNP	C	TCGA-BR-8588-01A-11D-2394-08	22630998	29855754	51339456	103	62926											
FBXO47	494188	broad.mit.edu	37	chr17	37101317	37101317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accaaaaagcagaatcacttCgatgtgtccaatgatcaagg	8	9	2	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr17:37101317C>T	uc002hrc.2	-	7	889	c.689G>A	c.(688-690)CGA>CAA	p.R230Q		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	F-box protein 47	230											0						AGAATCACTTCGATGTGTCCA	0.388													T	37101317	C	T	37101317	3	4	95	1	0	0	0	0	1	0	0	0	5756	884	31	1	689	1	FBXO47	17	37101317	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	7245563	37101317	44093893	104	62927											
ERBB2	2064	broad.mit.edu	37	chr17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctttctacggacgtgggatCctgcaccctcgtctgccccc	9	18	2	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr17:37868208C>T	uc002hso.2	+	8	1167	c.929C>T	c.(928-930)TCC>TTC	p.S310F	ERBB2_uc002hsm.2_Missense_Mutation_p.S280F|ERBB2_uc010cwa.2_Missense_Mutation_p.S295F|ERBB2_uc002hsp.2_Missense_Mutation_p.S113F|ERBB2_uc010cwb.2_Missense_Mutation_p.S310F|ERBB2_uc010wek.1_Missense_Mutation_p.S34F|ERBB2_uc002hsl.2_Missense_Mutation_p.S280F|ERBB2_uc002hsn.1_Missense_Mutation_p.S310F	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	310	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(2)|p.S310Y(1)		lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			T	37868208	C	T	37868208	3	4	95	1	0	0	0	0	1	0	0	0	5206	855	30	4	959	4	ERBB2	17	37868208	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	766891	37868208	43327002	105	62928											
RNF43	54894	broad.mit.edu	37	chr17	56438233	56438233	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccactcaccccgggcctGcctgcagctggcctggtacc	12	18	1	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr17:56438233G>A	uc002iwf.2	-	6	2716	c.760C>T	c.(760-762)CAG>TAG	p.Q254*	RNF43_uc010wnv.1_Nonsense_Mutation_p.Q213*|RNF43_uc002iwh.3_Nonsense_Mutation_p.Q254*|RNF43_uc002iwg.3_Nonsense_Mutation_p.Q254*|RNF43_uc010dcw.2_Nonsense_Mutation_p.Q127*	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	254	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCCGGGCCTGCCTGCAGCTG	0.637													A	56438233	G	A	56438233	4	1	95	1	0	0	0	0	0	1	0	0	13495	1328	46	2	1607	2	RNF43	17	56438233	Nonsense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	18570025	56438233	24756977	106	62929											
KDM4B	23030	broad.mit.edu	37	chr19	5077397	5077397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcttccccgggagctcGcagggctgcgacgccttcct	13	16	1	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr19:5077397G>A	uc002mbq.3	+	8	922	c.696G>A	c.(694-696)TCG>TCA	p.S232S	KDM4B_uc010xil.1_Silent_p.S232S|KDM4B_uc010xim.1_Silent_p.S232S|KDM4B_uc002mbr.3_5'UTR	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	232	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						CCGGGAGCTCGCAGGGCTGCG	0.657													A	5077397	G	A	5077397	2	1	95	1	0	0	0	0	0	0	0	1	8129	1074	38	1		1	KDM4B	19	5077397	Silent	SNP	G	TCGA-BR-8588-01A-11D-2394-08		5077397	54051586	107	62930											
DNASE2	1777	broad.mit.edu	37	chr19	12986983	12986983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtccagggcccttttgGggacacgcaccatttggagt	14	11	0	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr19:12986983G>A	uc002mvn.1	-	6	1050	c.904C>T	c.(904-906)CCA>TCA	p.P302S	DNASE2_uc010xmr.1_Missense_Mutation_p.P247S	NM_001375	NP_001366	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal precursor	302					apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding				0						GGCCCTTTTGGGGACACGCAC	0.597								Direct_reversal_of_damage					A	12986983	G	A	12986983	3	1	95	1	0	0	0	0	1	0	0	0	4664	1232	43	4	182	4	DNASE2	19	12986983	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	7909586	12986983	46142000	108	62931											
DDX39	10212	broad.mit.edu	37	chr19	14519889	14519889	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctctggaagttctgccacAttaacttcaaaccggtcctg	7	13	3	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr19:14519889A>G	uc010xnp.1	-	10	1272	c.1227T>C	c.(1225-1227)AAT>AAC	p.N409N	DDX39_uc002myo.2_Silent_p.N409N|DDX39_uc010dzl.2_RNA	NM_005804	NP_005795	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39	409	Helicase C-terminal.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding				0						GTTCTGCCACATTAACTTCAA	0.557													G	14519889	A	G	14519889	2	3	95	1	0	0	0	0	0	0	0	1	4357	214	8	3		3	DDX39	19	14519889	Silent	SNP	A	TCGA-BR-8588-01A-11D-2394-08	1532906	14519889	44609094	109	62932											
MAP1S	55201	broad.mit.edu	37	chr19	17837242	17837242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgcgtcgcggctggcgcGcggcgaggatgaggcggagc	22	12	0	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr19:17837242G>A	uc002nhe.1	+	5	1058	c.1049G>A	c.(1048-1050)CGC>CAC	p.R350H	MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Missense_Mutation_p.R350H|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Missense_Mutation_p.R324H	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	350	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						CGGCTGGCGCGCGGCGAGGAT	0.726													A	17837242	G	A	17837242	3	1	95	1	0	0	0	0	1	0	0	0	9234	1087	38	1	1067	1	MAP1S	19	17837242	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	3317353	17837242	41291741	110	62933											
ZNF569	148266	broad.mit.edu	37	chr19	37903787	37903787	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgtgcacaataagggaAgttctttgagagaaggcttt	11	6	2	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr19:37903787A>C	uc002ogi.2	-	6	2331	c.1773T>G	c.(1771-1773)ACT>ACG	p.T591T	ZNF569_uc002ogh.2_Silent_p.T432T|ZNF569_uc002ogj.2_Silent_p.T615T	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	591	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAATAAGGGAAGTTCTTTGAG	0.408													C	37903787	A	C	37903787	2	2	95	1	0	0	0	0	0	0	0	1	17997	59	3	5		5	ZNF569	19	37903787	Silent	SNP	A	TCGA-BR-8588-01A-11D-2394-08	20066545	37903787	21225196	111	62934											
RYR1	6261	broad.mit.edu	37	chr19	38993186	38993186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggcgctggcgctgaacCgctacctgtgcctggccgtg	15	13	0	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr19:38993186C>T	uc002oit.2	+	48	7784	c.7654C>T	c.(7654-7656)CGC>TGC	p.R2552C	RYR1_uc002oiu.2_Missense_Mutation_p.R2552C|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2552	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCGCTGAACCGCTACCTGTG	0.652													T	38993186	C	T	38993186	3	4	95	1	0	0	0	0	1	0	0	0	13768	652	23	1	7844	1	RYR1	19	38993186	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	1089399	38993186	20135797	112	62935											
MEIS3	56917	broad.mit.edu	37	chr19	47912430	47912430	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccccctcttcttgtttcGccgtcgctcctggtccaagt	8	16	2	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr19:47912430G>A	uc002pgu.2	-	8	1231	c.784C>T	c.(784-786)CGA>TGA	p.R262*	MEIS3_uc010xyp.1_5'Flank|MEIS3_uc002pgo.2_Nonsense_Mutation_p.R61*|MEIS3_uc002pgp.2_Nonsense_Mutation_p.R94*|MEIS3_uc002pgq.2_Nonsense_Mutation_p.R343*|MEIS3_uc002pgr.2_Nonsense_Mutation_p.R130*|MEIS3_uc002pgt.2_Nonsense_Mutation_p.R245*|MEIS3_uc002pgv.2_Nonsense_Mutation_p.R245*|MEIS3_uc002pgs.2_Nonsense_Mutation_p.R262*|MEIS3_uc010eld.2_Nonsense_Mutation_p.R262*	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Meis1, myeloid ecotropic viral integration site	262	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TTCTTGTTTCGCCGTCGCTCC	0.617													A	47912430	G	A	47912430	4	1	95	1	0	0	0	0	0	1	0	0	9469	1095	38	1	501	1	MEIS3	19	47912430	Nonsense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	8919244	47912430	11216553	113	62936											
PRR12	57479	broad.mit.edu	37	chr19	50102943	50102943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcccttcaccctgcaagCggcttgatgaggagctgaag	13	12	1	3			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr19:50102943C>T	uc002poo.3	+	5	4093	c.4093C>T	c.(4093-4095)CGG>TGG	p.R1365W		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	544	Pro-rich.						DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ACCCTGCAAGCGGCTTGATGA	0.632													T	50102943	C	T	50102943	3	4	95	1	0	0	0	0	1	0	0	0	12584	759	27	1	4111	1	PRR12	19	50102943	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	2190513	50102943	9026040	114	62937											
TSKS	60385	broad.mit.edu	37	chr19	50247605	50247605	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagaatgggtttcagtgggCccagcccctccagttcgctc	11	15	1	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr19:50247605C>A	uc002ppm.2	-	8	1255	c.1244G>T	c.(1243-1245)GGC>GTC	p.G415V		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	415							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TTTCAGTGGGCCCAGCCCCTC	0.597													A	50247605	C	A	50247605	3	1	95	1	0	0	0	0	1	0	0	0	16623	739	26	5	550	5	TSKS	19	50247605	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	144662	50247605	8881378	115	62938											
ZNF274	10782	broad.mit.edu	37	chr19	58723756	58723756	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaagcactttgacaaccgTgagtcccaggcaaacagtgg	11	10	0	3			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr19:58723756T>C	uc002qrq.1	+	10	1668	c.1209T>C	c.(1207-1209)CGT>CGC	p.R403R	ZNF274_uc002qrr.1_Silent_p.R371R|ZNF274_uc002qrs.1_Silent_p.R298R|ZNF274_uc010eum.1_Silent_p.R162R	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	zinc finger protein 274 isoform c	403					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TTGACAACCGTGAGTCCCAGG	0.512													C	58723756	T	C	58723756	2	2	95	1	0	0	0	0	0	0	0	1	17806	1683	59	3		3	ZNF274	19	58723756	Silent	SNP	T	TCGA-BR-8588-01A-11D-2394-08	8476151	58723756	405227	116	62939											
SRC	6714	broad.mit.edu	37	chr20	36031241	36031241	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acgtgtggtccttcgggatcCtgctgactgagctcaccaca	11	13	1	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr20:36031241C>G	uc002xgx.2	+	13	1809	c.1360C>G	c.(1360-1362)CTG>GTG	p.L454V	SRC_uc002xgy.2_Missense_Mutation_p.L454V	NM_005417	NP_005408	P12931	SRC_HUMAN	proto-oncogene tyrosine-protein kinase SRC	454	Protein kinase.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1)	13		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	CTTCGGGATCCTGCTGACTGA	0.478													G	36031241	C	G	36031241	3	3	95	1	0	0	0	0	1	0	0	0	15133	680	24	5	1398	5	SRC	20	36031241	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08		36031241	26994279	117	62940											
TSHZ2	128553	broad.mit.edu	37	chr20	51872113	51872113	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtccgtcctgaacaatcacTtgggcaaagccacggagccc	10	14	1	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr20:51872113T>A	uc002xwo.2	+	2	3072	c.2116T>A	c.(2116-2118)TTG>ATG	p.L706M		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	706					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			GAACAATCACTTGGGCAAAGC	0.577													A	51872113	T	A	51872113	3	1	95	1	0	0	0	0	1	0	0	0	16621	1606	56	5	2122	5	TSHZ2	20	51872113	Missense_Mutation	SNP	T	TCGA-BR-8588-01A-11D-2394-08	15840872	51872113	11153407	118	62941											
PHACTR3	116154	broad.mit.edu	37	chr20	58349321	58349321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggaagagaaagtaaagGgtctccaaagaagcggctgg	14	6	2	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr20:58349321G>A	uc002yau.2	+	7	1417	c.950G>A	c.(949-951)GGG>GAG	p.G317E	PHACTR3_uc002yat.2_Missense_Mutation_p.G314E|PHACTR3_uc010zzw.1_Missense_Mutation_p.G276E|PHACTR3_uc002yav.2_Missense_Mutation_p.G276E|PHACTR3_uc002yaw.2_Missense_Mutation_p.G276E|PHACTR3_uc002yax.2_Missense_Mutation_p.G206E	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	317						nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GAAAGTAAAGGGTCTCCAAAG	0.527													A	58349321	G	A	58349321	3	1	95	1	0	0	0	0	1	0	0	0	11811	1232	43	4	976	4	PHACTR3	20	58349321	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	6477208	58349321	4676199	119	62942											
C2CD2	25966	broad.mit.edu	37	chr21	43319370	43319370	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggcggggcagaggctgcCgccctctccggatgggatgg	18	12	2	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr21:43319370C>T	uc002yzw.2	-	13	1904	c.1662G>A	c.(1660-1662)GCG>GCA	p.A554A	C2CD2_uc002yzs.2_Silent_p.A23A|C2CD2_uc002yzt.2_Silent_p.A170A|C2CD2_uc002yzu.2_Silent_p.A386A|C2CD2_uc002yzv.2_Silent_p.A399A	NM_015500	NP_056315	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2 isoform	554						cytosol|extracellular region|nucleus				ovary(1)	1						CAGAGGCTGCCGCCCTCTCCG	0.667													T	43319370	C	T	43319370	2	4	95	1	0	0	0	0	0	0	0	1	2152	639	23	1		1	C2CD2	21	43319370	Silent	SNP	C	TCGA-BR-8588-01A-11D-2394-08		43319370	4810525	120	62943											
CACNA1I	8911	broad.mit.edu	37	chr22	40043924	40043924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccctggaaatgatcactcGggaagaggcaagccagggcc	13	12	1	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr22:40043924G>A	uc003ayc.2	+	9	1560	c.1560G>A	c.(1558-1560)TCG>TCA	p.S520S	CACNA1I_uc003ayd.2_Intron|CACNA1I_uc003aye.2_Silent_p.S435S|CACNA1I_uc003ayf.2_Intron	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	520	Cytoplasmic (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ATGATCACTCGGGAAGAGGCA	0.517													A	40043924	G	A	40043924	2	1	95	1	0	0	0	0	0	0	0	1	2546	1103	39	1		1	CACNA1I	22	40043924	Silent	SNP	G	TCGA-BR-8588-01A-11D-2394-08		40043924	11260642	121	62944											
SBF1	6305	broad.mit.edu	37	chr22	50901807	50901807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcaggtgcagctcctgggCgaggcagcggcgggcagctc	18	12	0	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chr22:50901807C>T	uc003blh.2	-	16	1999	c.1804G>A	c.(1804-1806)GCC>ACC	p.A602T	SBF1_uc011arx.1_Missense_Mutation_p.A266T|SBF1_uc003bli.2_Missense_Mutation_p.A603T	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	602					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		AGCTCCTGGGCGAGGCAGCGG	0.647													T	50901807	C	T	50901807	3	4	95	1	0	0	0	0	1	0	0	0	13858	768	27	1	3981	1	SBF1	22	50901807	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	10857883	50901807	402759	122	62945											
KAL1	3730	broad.mit.edu	37	chrX	8538633	8538634	+	Missense_Mutation	DNP	GA	GA	TG													accttgtaatgatgcacaggGatgtccggctcctcggggag					rs137879324	byFrequency	TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chrX:8538633_8538634GA>TG	uc004csf.2	-	7	1118_1119	c.968_969TC>CA	c.(967-969)ATC>ACA	p.I323T		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	323	Fibronectin type-III 2.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						GATGCACAGGGATGTCCGGCTC	0.55													TG	8538634	GA	TG	8538633	3	4	95	1	0	0	0	0	1	0	0	0	7974	1164	41	5	1105	5	KAL1	23	8538633	Missense_Mutation	DNP	GA	TCGA-BR-8588-01A-11D-2394-08		8538633	146731927	123	62946											
SHROOM2	357	broad.mit.edu	37	chrX	9900503	9900503	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccctgctctccaagaggccAgccccacagaggccaccgcc	10	20	1	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chrX:9900503A>G	uc004csu.1	+	6	3270	c.3180A>G	c.(3178-3180)CCA>CCG	p.P1060P	SHROOM2_uc004csv.2_5'UTR|SHROOM2_uc011mic.1_5'UTR|SHROOM2_uc004csw.1_5'UTR	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	1060					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				CCAAGAGGCCAGCCCCACAGA	0.697													G	9900503	A	G	9900503	2	3	95	1	0	0	0	0	0	0	0	1	14294	175	7	3		3	SHROOM2	23	9900503	Silent	SNP	A	TCGA-BR-8588-01A-11D-2394-08	1361870	9900503	145370057	124	62947											
FRMPD4	9758	broad.mit.edu	37	chrX	12735634	12735634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcaggtgtagccatcttgCgggcttatagtcctgagtct	12	9	2	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chrX:12735634C>T	uc004cuz.1	+	16	3195	c.2689C>T	c.(2689-2691)CGG>TGG	p.R897W	FRMPD4_uc011mij.1_Missense_Mutation_p.R889W	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	897					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						AGCCATCTTGCGGGCTTATAG	0.438													T	12735634	C	T	12735634	3	4	95	1	0	0	0	0	1	0	0	0	6059	759	27	1	2751	1	FRMPD4	23	12735634	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	2835131	12735634	142534926	125	62948											
PCYT1B	9468	broad.mit.edu	37	chrX	24597470	24597470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagttccttggctgtatacCctctctggaggttacgtcgg	11	11	2	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chrX:24597470C>T	uc004dbi.2	-	6	904	c.671G>A	c.(670-672)GGG>GAG	p.G224E	PCYT1B_uc004dbk.3_Missense_Mutation_p.G224E|PCYT1B_uc004dbj.2_Missense_Mutation_p.G206E	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	choline phosphate cytidylyltransferase 1 beta	224	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity				0					Choline(DB00122)	GGCTGTATACCCTCTCTGGAG	0.453													T	24597470	C	T	24597470	3	4	95	1	0	0	0	0	1	0	0	0	11611	623	22	4	487	4	PCYT1B	23	24597470	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	11861836	24597470	130673090	126	62949											
FAM47A	158724	broad.mit.edu	37	chrX	34148983	34148983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgggacacctgagtctcGggaggctgcaggcagggttc	18	9	1	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chrX:34148983G>A	uc004ddg.2	-	1	1446	c.1413C>T	c.(1411-1413)CCC>CCT	p.P471P		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	471										ovary(4)|central_nervous_system(1)	5						CCTGAGTCTCGGGAGGCTGCA	0.602													A	34148983	G	A	34148983	2	1	95	1	0	0	0	0	0	0	0	1	5569	1103	39	1		1	FAM47A	23	34148983	Silent	SNP	G	TCGA-BR-8588-01A-11D-2394-08	9551513	34148983	121121577	127	62950											
TMEM47	83604	broad.mit.edu	37	chrX	34657453	34657453	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacccaccaggaatgcaatgAgaatgatggcagcgccgccc	11	13	0	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chrX:34657453A>G	uc004ddh.2	-	2	537	c.278T>C	c.(277-279)CTC>CCC	p.L93P	TMEM47_uc010ngs.2_RNA	NM_031442	NP_113630	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	93	Helical; (Potential).					integral to membrane				lung(1)	1						GAATGCAATGAGAATGATGGC	0.443													G	34657453	A	G	34657453	3	3	95	1	0	0	0	0	1	0	0	0	16168	304	11	3	275	3	TMEM47	23	34657453	Missense_Mutation	SNP	A	TCGA-BR-8588-01A-11D-2394-08	508470	34657453	120613107	128	62951											
RGN	9104	broad.mit.edu	37	chrX	46949185	46949185	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttttgtaggcaccatggcTgaggaaacagctccagcagt	12	9	0	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chrX:46949185T>C	uc004dgz.1	+	5	1326	c.357T>C	c.(355-357)GCT>GCC	p.A119A	RGN_uc004dha.1_Silent_p.A119A|RGN_uc010nho.1_Silent_p.A66A|RGN_uc010nhp.1_Intron	NM_152869	NP_690608	Q15493	RGN_HUMAN	regucalcin	119					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding				0						GCACCATGGCTGAGGAAACAG	0.527													C	46949185	T	C	46949185	2	2	95	1	0	0	0	0	0	0	0	1	13282	1567	55	3		3	RGN	23	46949185	Silent	SNP	T	TCGA-BR-8588-01A-11D-2394-08	12291732	46949185	108321375	129	62952											
PRICKLE3	4007	broad.mit.edu	37	chrX	49032336	49032336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgattatgatgatggtggcGgcgacggctgggggccctgg	20	7	0	3			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chrX:49032336G>A	uc004dmy.1	-	9	1560	c.1534C>T	c.(1534-1536)CGC>TGC	p.R512C	PRICKLE3_uc011mmv.1_Missense_Mutation_p.R444C|PRICKLE3_uc011mmw.1_Missense_Mutation_p.R431C|PRICKLE3_uc011mmx.1_Missense_Mutation_p.R474C	NM_006150	NP_006141	O43900	PRIC3_HUMAN	LIM domain only 6	512							protein binding|zinc ion binding			breast(1)	1						tgatggtggCGGCGACGGCTG	0.592													A	49032336	G	A	49032336	3	1	95	1	0	0	0	0	1	0	0	0	12488	1116	39	1	317	1	PRICKLE3	23	49032336	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	2083151	49032336	106238224	130	62953											
ALAS2	212	broad.mit.edu	37	chrX	55050237	55050237	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttcccagagatctgcTcctgctcctggggaccggaa	11	14	1	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chrX:55050237T>C	uc004dua.3	-	4	506	c.368A>G	c.(367-369)GAG>GGG	p.E123G	ALAS2_uc004dub.3_Intron|ALAS2_uc004dud.3_Intron	NM_000032	NP_000023	P22557	HEM0_HUMAN	5-aminolevulinate synthase 2 isoform a	123					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(1)	1					Glycine(DB00145)	AGAGATCTGCTCCTGCTCCTG	0.517													C	55050237	T	C	55050237	3	2	95	1	0	0	0	0	1	0	0	0	485	1551	54	3	1427	3	ALAS2	23	55050237	Missense_Mutation	SNP	T	TCGA-BR-8588-01A-11D-2394-08	6017901	55050237	100220323	131	62954											
CITED1	4435	broad.mit.edu	37	chrX	71521802	71521802	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccagttttgcaggggtcctGcctccccgggttggcctgga	14	14	0	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chrX:71521802G>T	uc011mqd.1	-	3	508	c.353C>A	c.(352-354)GCA>GAA	p.A118E	CITED1_uc011mqc.1_Missense_Mutation_p.A144E|CITED1_uc004eas.2_Missense_Mutation_p.A118E|CITED1_uc004eat.2_Missense_Mutation_p.A118E	NM_001144887	NP_001138359	Q99966	CITE1_HUMAN	melanocyte-specific gene 1 isoform 1	118					apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding				0	Renal(35;0.156)					CAGGGGTCCTGCCTCCCCGGG	0.612													T	71521802	G	T	71521802	3	4	95	1	0	0	0	0	1	0	0	0	3439	1319	46	5	232	5	CITED1	23	71521802	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	16471565	71521802	83748758	132	62955											
H2BFWT	158983	broad.mit.edu	37	chrX	103268176	103268176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtggccattagatggcaCgaccagacaatggcggttgt	14	9	0	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chrX:103268176C>T	uc004elr.2	-	1	81	c.57G>A	c.(55-57)TCG>TCA	p.S19S		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	19					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			ovary(1)	1						TTAGATGGCACGACCAGACAA	0.607													T	103268176	C	T	103268176	2	4	95	1	0	0	0	0	0	0	0	1	6932	523	19	1		1	H2BFWT	23	103268176	Silent	SNP	C	TCGA-BR-8588-01A-11D-2394-08	31746374	103268176	52002384	133	62956											
TBC1D8B	54885	broad.mit.edu	37	chrX	106066491	106066491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggatgaagtctcaaaaCttgaaaagacttcaaatgtc	8	8	2	3			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chrX:106066491C>T	uc004emo.2	+	5	787	c.622C>T	c.(622-624)CTT>TTT	p.L208F	MORC4_uc004emp.3_Intron|TBC1D8B_uc004emm.2_Missense_Mutation_p.L208F|TBC1D8B_uc004emn.2_Missense_Mutation_p.L208F	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	208	GRAM 1.					intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4						AGTCTCAAAACTTGAAAAGAC	0.323													T	106066491	C	T	106066491	3	4	95	1	0	0	0	0	1	0	0	0	15623	565	20	4	640	4	TBC1D8B	23	106066491	Missense_Mutation	SNP	C	TCGA-BR-8588-01A-11D-2394-08	2798315	106066491	49204069	134	62957											
KIAA1210	57481	broad.mit.edu	37	chrX	118222008	118222008	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactcattgagtccaggaacTtaggcctctccgagggctgg	12	11	2	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chrX:118222008T>C	uc004era.3	-	11	3185	c.3185A>G	c.(3184-3186)AAG>AGG	p.K1062R		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	1062										ovary(4)|skin(1)	5						GTCCAGGAACTTAGGCCTCTC	0.532													C	118222008	T	C	118222008	3	2	95	1	0	0	0	0	1	0	0	0	8214	1609	56	3	1960	3	KIAA1210	23	118222008	Missense_Mutation	SNP	T	TCGA-BR-8588-01A-11D-2394-08	12155517	118222008	37048552	135	62958											
IGSF1	3547	broad.mit.edu	37	chrX	130412056	130412056	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctttgcaccggagttgtagTtcctggccccggattgtggg	14	11	0	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chrX:130412056T>A	uc004ewd.2	-	13	2332	c.2094A>T	c.(2092-2094)GAA>GAT	p.E698D	IGSF1_uc004ewe.3_Missense_Mutation_p.E692D|IGSF1_uc004ewf.2_Missense_Mutation_p.E678D	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	698	Extracellular (Potential).|Ig-like C2-type 7.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						GGAGTTGTAGTTCCTGGCCCC	0.527													A	130412056	T	A	130412056	3	1	95	1	0	0	0	0	1	0	0	0	7596	1722	60	5	1948	5	IGSF1	23	130412056	Missense_Mutation	SNP	T	TCGA-BR-8588-01A-11D-2394-08	12190048	130412056	24858504	136	62959											
GPR112	139378	broad.mit.edu	37	chrX	135430802	135430802	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcacacctacgacctttcTctctccaacagagccaactt	4	16	3	1			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chrX:135430802T>C	uc004ezu.1	+	6	5228	c.4937T>C	c.(4936-4938)CTC>CCC	p.L1646P	GPR112_uc010nsb.1_Missense_Mutation_p.L1441P|GPR112_uc010nsc.1_Missense_Mutation_p.L1413P	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1646	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					ACGACCTTTCTCTCTCCAACA	0.463													C	135430802	T	C	135430802	3	2	95	1	0	0	0	0	1	0	0	0	6629	1551	54	3	4947	3	GPR112	23	135430802	Missense_Mutation	SNP	T	TCGA-BR-8588-01A-11D-2394-08	5018746	135430802	19839758	137	62960											
SLITRK2	84631	broad.mit.edu	37	chrX	144903992	144903992	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttaaccgtggccgggatcTtacagacagagagtcgcaaa	12	9	1	2			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chrX:144903992T>C	uc004fcd.2	+	5	1039	c.49T>C	c.(49-51)TTA>CTA	p.L17L	SLITRK2_uc010nsp.2_Silent_p.L17L|SLITRK2_uc010nso.2_Silent_p.L17L|SLITRK2_uc011mwq.1_Silent_p.L17L|SLITRK2_uc011mwr.1_Silent_p.L17L|SLITRK2_uc011mws.1_Silent_p.L17L|SLITRK2_uc004fcg.2_Silent_p.L17L|SLITRK2_uc011mwt.1_Silent_p.L17L	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	17						integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCGGGATCTTACAGACAGA	0.488													C	144903992	T	C	144903992	2	2	95	1	0	0	0	0	0	0	0	1	14743	1606	56	3		3	SLITRK2	23	144903992	Silent	SNP	T	TCGA-BR-8588-01A-11D-2394-08	9473190	144903992	10366568	138	62961											
L1CAM	3897	broad.mit.edu	37	chrX	153129810	153129810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcacagccatttggtgccGgaacatcctctccttaaaca	6	14	2	0			TCGA-BR-8588-01A-11D-2394-08	TCGA-BR-8588-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb26a6-0430-47b7-8f85-9166e8b4130b	907aa997-170c-40e5-9e28-6d93395e5ae2	g.chrX:153129810G>A	uc004fjb.2	-	24	3397	c.3289C>T	c.(3289-3291)CGG>TGG	p.R1097W	L1CAM_uc004fjc.2_Missense_Mutation_p.R1097W|L1CAM_uc010nuo.2_Missense_Mutation_p.R1092W	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	1097	Fibronectin type-III 5.|Extracellular (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATTTGGTGCCGGAACATCCTC	0.572													A	153129810	G	A	153129810	3	1	95	1	0	0	0	0	1	0	0	0	8588	1115	39	1	504	1	L1CAM	23	153129810	Missense_Mutation	SNP	G	TCGA-BR-8588-01A-11D-2394-08	8225818	153129810	2140750	139	62962											
KCNAB2	8514	broad.mit.edu	37	chr1	6145300	6145300	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacatcattaagaagaaAggatggaggtaacggccctg	13	6	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:6145300A>G	uc009vlv.1	+	7	453	c.318A>G	c.(316-318)AAA>AAG	p.K106K	KCNAB2_uc001alv.1_Silent_p.K106K|KCNAB2_uc001alw.1_Silent_p.K92K|KCNAB2_uc001alx.1_Silent_p.K106K|KCNAB2_uc001aly.1_Silent_p.K139K|KCNAB2_uc009vlw.1_Silent_p.K39K|KCNAB2_uc001alu.2_Silent_p.K106K	NM_003636	NP_003627	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related	106						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity				0	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		TTAAGAAGAAAGGATGGAGGT	0.557													G	6145300	A	G	6145300	2	3	96	1	0	0	0	0	0	0	0	1	8010	69	3	3		3	KCNAB2	1	6145300	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08		6145300	243105321	1	62963											
CASZ1	54897	broad.mit.edu	37	chr1	10713858	10713858	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggtggcggcagtggcggcAgccagggacgcagaggactg	20	10	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:10713858A>G	uc001aro.2	-	11	2576	c.2256T>C	c.(2254-2256)GCT>GCC	p.A752A	CASZ1_uc001arp.1_Silent_p.A752A|CASZ1_uc009vmx.2_Silent_p.A776A	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	752					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CAGTGGCGGCAGCCAGGGACG	0.667													G	10713858	A	G	10713858	2	3	96	1	0	0	0	0	0	0	0	1	2685	175	7	3		3	CASZ1	1	10713858	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4568558	10713858	238536763	2	62964											
MTOR	2475	broad.mit.edu	37	chr1	11298633	11298633	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgctcactgttcaggaAatgatccgcacagtggcgaa	11	10	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:11298633A>C	uc001asd.2	-	12	1949	c.1828T>G	c.(1828-1830)TTC>GTC	p.F610V		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	610					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						CTGTTCAGGAAATGATCCGCA	0.542													C	11298633	A	C	11298633	3	2	96	1	0	0	0	0	1	0	0	0	9954	14	1	5	6009	5	MTOR	1	11298633	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	584775	11298633	237951988	3	62965											
MTOR	2475	broad.mit.edu	37	chr1	11303171	11303171	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcataacagaggtgcttacTtatgggcgaagtcctttggg	12	7	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:11303171T>G	uc001asd.2	-	9	1533	c.1412A>C	c.(1411-1413)AAG>ACG	p.K471T		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	471					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						AGGTGCTTACTTATGGGCGAA	0.512													G	11303171	T	G	11303171	3	3	96	1	0	0	0	0	1	0	0	0	9954	1623	56	5	6437	5	MTOR	1	11303171	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4538	11303171	237947450	4	62966											
MAD2L2	10459	broad.mit.edu	37	chr1	11736991	11736991	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaatcaccaccaccacTttctccacatcattctgcaa	1	17	4	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:11736991T>C	uc001asp.2	-	5	434	c.246A>G	c.(244-246)AAA>AAG	p.K82K	MAD2L2_uc009vnc.2_Silent_p.K82K|MAD2L2_uc001asq.3_Silent_p.K82K	NM_006341	NP_006332	Q9UI95	MD2L2_HUMAN	MAD2 homolog	82	Mediates interaction with REV1 and REV3L and homodimerization.|HORMA.				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding				0	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCACCACTTTCTCCACAT	0.582								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					C	11736991	T	C	11736991	2	2	96	1	0	0	0	0	0	0	0	1	9150	1606	56	3		3	MAD2L2	1	11736991	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	433820	11736991	237513630	5	62967											
VPS13D	55187	broad.mit.edu	37	chr1	12313878	12313878	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggatttgcctcagatggagTtacaggtacgatttcggcag	14	7	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:12313878T>G	uc001atv.2	+	7	805	c.664T>G	c.(664-666)TTA>GTA	p.L222V	VPS13D_uc001atw.2_Missense_Mutation_p.L222V	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	222					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCAGATGGAGTTACAGGTACG	0.488													G	12313878	T	G	12313878	3	3	96	1	0	0	0	0	1	0	0	0	17189	1722	60	5	686	5	VPS13D	1	12313878	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	576887	12313878	236936743	6	62968											
NBPF1	55672	broad.mit.edu	37	chr1	16918430	16918430	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaactgctgtttgttctcTgccagctgggggcgcaattt	12	10	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:16918430T>C	uc009vos.1	-	7	975	c.87A>G	c.(85-87)GCA>GCG	p.A29A	NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	29						cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GTTTGTTCTCTGCCAGCTGGG	0.478													C	16918430	T	C	16918430	2	2	96	1	0	0	0	0	0	0	0	1	10192	1567	55	3		3	NBPF1	1	16918430	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4604552	16918430	232332191	7	62969											
PADI4	23569	broad.mit.edu	37	chr1	17666206	17666206	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggacatgtcgctgatgAccctgagcacgaagaccccc	11	14	0	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:17666206A>G	uc001baj.2	+	6	578	c.550A>G	c.(550-552)ACC>GCC	p.T184A	PADI4_uc009vpc.2_Missense_Mutation_p.T184A	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	184					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GTCGCTGATGACCCTGAGCAC	0.577													G	17666206	A	G	17666206	3	3	96	1	0	0	0	0	1	0	0	0	11380	275	10	3	572	3	PADI4	1	17666206	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	747776	17666206	231584415	8	62970											
LIN28A	79727	broad.mit.edu	37	chr1	26752823	26752823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttctgccagagcatcagCcatatggtagcctcatgtcc	8	14	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:26752823C>T	uc001bmj.2	+	4	618	c.504C>T	c.(502-504)AGC>AGT	p.S168S	LIN28A_uc001bmi.1_RNA	NM_024674	NP_078950	Q9H9Z2	LN28A_HUMAN	lin-28 homolog	168	CCHC-type 2.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)	1						AGAGCATCAGCCATATGGTAG	0.532													T	26752823	C	T	26752823	2	4	96	1	0	0	0	0	0	0	0	1	8805	738	26	2		2	LIN28A	1	26752823	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	9086617	26752823	222497798	9	62971											
ARID1A	8289	broad.mit.edu	37	chr1	27105610	27105610	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaggtgggtgacccaggaCagagaacgctactggatcct	14	9	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:27105610C>T	uc001bmv.1	+	20	5594	c.5221C>T	c.(5221-5223)CAG>TAG	p.Q1741*	ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1524*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q587*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.Q69*|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1741					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGACCCAGGACAGAGAACGCT	0.493			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								T	27105610	C	T	27105610	4	4	96	1	0	0	0	0	0	1	0	0	913	479	17	4	5299	4	ARID1A	1	27105610	Nonsense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	352787	27105610	222145011	10	62972											
FGR	2268	broad.mit.edu	37	chr1	27949577	27949577	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaggatgtggaacttcTcgcccttggtgaaggtgagg	15	7	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:27949577T>A	uc001boj.2	-	2	451	c.305A>T	c.(304-306)GAG>GTG	p.E102V	FGR_uc001bok.2_Missense_Mutation_p.E102V|FGR_uc001bol.2_Missense_Mutation_p.E102V|FGR_uc001bom.2_Missense_Mutation_p.E102V	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	102	SH3.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(2)	2		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGAACTTCTCGCCCTTGGT	0.408													A	27949577	T	A	27949577	3	1	96	1	0	0	0	0	1	0	0	0	5874	1551	54	5	1324	5	FGR	1	27949577	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	843967	27949577	221301044	11	62973											
ZSCAN20	7579	broad.mit.edu	37	chr1	33956645	33956645	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagttccagtttcaaaaccaAgtaatacctccgagaaagag	8	9	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:33956645A>C	uc001bxj.3	+	6	954	c.787A>C	c.(787-789)AGT>CGT	p.S263R	ZSCAN20_uc001bxk.2_Missense_Mutation_p.S209R|ZSCAN20_uc009vui.2_Missense_Mutation_p.S263R	NM_145238	NP_660281	P17040	ZSC20_HUMAN	zinc finger protein 31	263					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TTCAAAACCAAGTAATACCTC	0.423													C	33956645	A	C	33956645	3	2	96	1	0	0	0	0	1	0	0	0	18229	72	3	5	805	5	ZSCAN20	1	33956645	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	6007068	33956645	215293976	12	62974											
ZMYM6	9204	broad.mit.edu	37	chr1	35453121	35453121	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtccttccaggtgctcaaAaataatccttgtgatgtctg	8	9	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:35453121A>C	uc001byh.2	-	16	3790	c.3562T>G	c.(3562-3564)TTT>GTT	p.F1188V	uc001byd.3_5'Flank|uc001bye.2_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc010oht.1_Missense_Mutation_p.F1091V	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	1188					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AGGTGCTCAAAAATAATCCTT	0.299													C	35453121	A	C	35453121	3	2	96	1	0	0	0	0	1	0	0	0	17701	14	1	5	419	5	ZMYM6	1	35453121	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1496476	35453121	213797500	13	62975											
ZMYM4	9202	broad.mit.edu	37	chr1	35847321	35847321	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatagagggacagtctaagAagttttgtagttcatcgtgt	12	4	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:35847321A>G	uc001byt.2	+	9	1611	c.1531A>G	c.(1531-1533)AAG>GAG	p.K511E	ZMYM4_uc009vuu.2_Missense_Mutation_p.K479E|ZMYM4_uc001byu.2_Missense_Mutation_p.K187E|ZMYM4_uc009vuv.2_Missense_Mutation_p.K250E	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	511	MYM-type 4.				multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACAGTCTAAGAAGTTTTGTAG	0.418													G	35847321	A	G	35847321	3	3	96	1	0	0	0	0	1	0	0	0	17699	247	9	3	1565	3	ZMYM4	1	35847321	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	394200	35847321	213403300	14	62976											
TEKT2	27285	broad.mit.edu	37	chr1	36552352	36552352	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caactccgaccatcggggcaAaatggagacactagagatcg	11	11	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:36552352A>C	uc001bzr.2	+	5	663	c.536A>C	c.(535-537)AAA>ACA	p.K179T	TEKT2_uc001bzs.2_Missense_Mutation_p.K85T|ADPRHL2_uc001bzt.2_5'Flank|ADPRHL2_uc001bzu.2_5'Flank	NM_014466	NP_055281	Q9UIF3	TEKT2_HUMAN	tektin 2	179					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus					0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CATCGGGGCAAAATGGAGACA	0.567													C	36552352	A	C	36552352	3	2	96	1	0	0	0	0	1	0	0	0	15750	14	1	5	550	5	TEKT2	1	36552352	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	705031	36552352	212698269	15	62977											
GRIK3	2899	broad.mit.edu	37	chr1	37337949	37337949	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttgatggggccatgatgAgctcctgcagtcggatgagc	14	9	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:37337949A>G	uc001caz.2	-	4	707	c.572T>C	c.(571-573)CTC>CCC	p.L191P	GRIK3_uc001cba.1_Missense_Mutation_p.L191P	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	191	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGCCATGATGAGCTCCTGCAG	0.572													G	37337949	A	G	37337949	3	3	96	1	0	0	0	0	1	0	0	0	6775	304	11	3	2239	3	GRIK3	1	37337949	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	785597	37337949	211912672	16	62978											
INPP5B	3633	broad.mit.edu	37	chr1	38328033	38328033	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaataaattcttgagccttcTtcttctctgtcatatcaagc	5	10	6	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:38328033T>G	uc001ccg.1	-	24	2790	c.2696A>C	c.(2695-2697)AAG>ACG	p.K899T	INPP5B_uc009vvk.1_3'UTR|MTF1_uc001cce.1_5'Flank|MTF1_uc009vvj.1_5'Flank|INPP5B_uc001ccf.1_Missense_Mutation_p.K735T	NM_005540	NP_005531	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	979	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			urinary_tract(1)	1	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTGAGCCTTCTTCTTCTCTGT	0.438													G	38328033	T	G	38328033	3	3	96	1	0	0	0	0	1	0	0	0	7755	1609	56	5	49	5	INPP5B	1	38328033	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	990084	38328033	210922588	17	62979											
PABPC4	8761	broad.mit.edu	37	chr1	40035289	40035289	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattggcatcctcgtgttttTcgtaactcacaaagccaaag	7	10	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:40035289T>C	uc010oiv.1	-	5	1614	c.716A>G	c.(715-717)GAA>GGA	p.E239G	PABPC4_uc001cdl.2_Missense_Mutation_p.E239G|PABPC4_uc001cdm.2_Missense_Mutation_p.E239G|SNORA55_uc001cdo.1_5'Flank	NM_003819	NP_003810	Q13310	PABP4_HUMAN	poly A binding protein, cytoplasmic 4 isoform 2	239	RRM 3.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding				0	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTCGTGTTTTTCGTAACTCAC	0.438													C	40035289	T	C	40035289	3	2	96	1	0	0	0	0	1	0	0	0	11366	1783	62	3	1310	3	PABPC4	1	40035289	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1707256	40035289	209215332	18	62980											
TMCO2	127391	broad.mit.edu	37	chr1	40717105	40717105	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggtctgcaagagaaaattTtgaaaaaacttaagacagtg	10	4	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:40717105T>G	uc001cfe.2	+	2	481	c.388T>G	c.(388-390)TTG>GTG	p.L130V		NM_001008740	NP_001008740	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	130	Potential.					integral to membrane				ovary(1)	1	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			AGAGAAAATTTTGAAAAAACT	0.408													G	40717105	T	G	40717105	3	3	96	1	0	0	0	0	1	0	0	0	15993	1838	64	5	394	5	TMCO2	1	40717105	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	681816	40717105	208533516	19	62981											
ZNF684	127396	broad.mit.edu	37	chr1	41012365	41012365	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accattataatatgagcacaAgtcttaatccaatgagaaaa	5	7	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:41012365A>C	uc001cft.1	+	5	621	c.370A>C	c.(370-372)AGT>CGT	p.S124R		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			TATGAGCACAAGTCTTAATCC	0.303													C	41012365	A	C	41012365	3	2	96	1	0	0	0	0	1	0	0	0	18088	72	3	5	384	5	ZNF684	1	41012365	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	295260	41012365	208238256	20	62982											
HIVEP3	59269	broad.mit.edu	37	chr1	42048511	42048511	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtagttatcccttttcTtgtaccgagcaccacatatg	6	12	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:42048511T>G	uc001cgz.3	-	4	3171	c.1958A>C	c.(1957-1959)AAG>ACG	p.K653T	HIVEP3_uc001cha.3_Missense_Mutation_p.K653T|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	653	C2H2-type 3; degenerate.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ATCCCTTTTCTTGTACCGAGC	0.458													G	42048511	T	G	42048511	3	3	96	1	0	0	0	0	1	0	0	0	7188	1609	56	5	5286	5	HIVEP3	1	42048511	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1036146	42048511	207202110	21	62983											
KIAA0467	23334	broad.mit.edu	37	chr1	43906924	43906924	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgggttcccccaaaacaActgatgacattgtcctggat	8	10	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:43906924A>C	uc001cjk.1	+	38	5149	c.4687A>C	c.(4687-4689)ACT>CCT	p.T1563P		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2462						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCCAAAACAACTGATGACAT	0.577													C	43906924	A	C	43906924	3	2	96	1	0	0	0	0	1	0	0	0	8178	43	2	5	4829	5	KIAA0467	1	43906924	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1858413	43906924	205343697	22	62984											
EIF2B3	8891	broad.mit.edu	37	chr1	45392349	45392349	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcttcatccaagtctgcttCattagccatgaagagcagcc	7	13	4	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:45392349C>T	uc001cmt.1	-	5	644	c.517G>A	c.(517-519)GAA>AAA	p.E173K	EIF2B3_uc001cmu.1_Missense_Mutation_p.E173K|EIF2B3_uc001cmv.1_Missense_Mutation_p.E173K|EIF2B3_uc001cmw.2_Missense_Mutation_p.E173K	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B,	173					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					AAGTCTGCTTCATTAGCCATG	0.413													T	45392349	C	T	45392349	3	4	96	1	0	0	0	0	1	0	0	0	5002	835	29	4	910	4	EIF2B3	1	45392349	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	1485425	45392349	203858272	23	62985											
EIF2B3	8891	broad.mit.edu	37	chr1	45392393	45392393	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtgctgtccactccaAtgaagtcacgctgctccact	7	15	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:45392393A>C	uc001cmt.1	-	5	600	c.473T>G	c.(472-474)ATT>AGT	p.I158S	EIF2B3_uc001cmu.1_Missense_Mutation_p.I158S|EIF2B3_uc001cmv.1_Missense_Mutation_p.I158S|EIF2B3_uc001cmw.2_Missense_Mutation_p.I158S	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B,	158					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GTCCACTCCAATGAAGTCACG	0.443													C	45392393	A	C	45392393	3	2	96	1	0	0	0	0	1	0	0	0	5002	101	4	5	954	5	EIF2B3	1	45392393	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	44	45392393	203858228	24	62986											
HECTD3	79654	broad.mit.edu	37	chr1	45470426	45470426	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgttagttccttcccaaacTtgaactcaaacgtctccttg	5	12	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:45470426T>A	uc009vxk.2	-	16	2086	c.1988A>T	c.(1987-1989)AAG>ATG	p.K663M	HECTD3_uc001cmx.3_Missense_Mutation_p.K12M|HECTD3_uc001cmy.3_Missense_Mutation_p.K273M|HECTD3_uc010olh.1_Missense_Mutation_p.K379M	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	663	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)					CTTCCCAAACTTGAACTCAAA	0.517													A	45470426	T	A	45470426	3	1	96	1	0	0	0	0	1	0	0	0	7041	1609	56	5	621	5	HECTD3	1	45470426	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	78033	45470426	203780195	25	62987											
CYP4Z1	199974	broad.mit.edu	37	chr1	47534415	47534415	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatgacccagactatgccaAgattctcctgaaaagacaag	7	12	1	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:47534415A>C	uc001cqu.1	+	2	302	c.299A>C	c.(298-300)AAG>ACG	p.K100T		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	cytochrome P450 4Z1	100	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			skin(1)	1						GACTATGCCAAGATTCTCCTG	0.488													C	47534415	A	C	47534415	3	2	96	1	0	0	0	0	1	0	0	0	4194	72	3	5	305	5	CYP4Z1	1	47534415	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2063989	47534415	201716206	26	62988											
DMRTA2	63950	broad.mit.edu	37	chr1	50884941	50884941	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcgatggcctgcaccacgTcgccgccgcagccctgcaac	11	19	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:50884941T>G	uc010ona.1	-	2	1121	c.1025A>C	c.(1024-1026)GAC>GCC	p.D342A	DMRTA2_uc010onb.1_Missense_Mutation_p.D342A	NM_032110	NP_115486	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	342	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0						CTGCACCACGTCGCCGCCGCA	0.726													G	50884941	T	G	50884941	3	3	96	1	0	0	0	0	1	0	0	0	4589	1667	58	5	607	5	DMRTA2	1	50884941	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3350526	50884941	198365680	27	62989											
ZFYVE9	9372	broad.mit.edu	37	chr1	52703680	52703680	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaactgatcaatttagtttTagtataaatgagtccactga	6	6	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:52703680T>C	uc001cto.2	+	4	763	c.591T>C	c.(589-591)TTT>TTC	p.F197F	ZFYVE9_uc001ctn.2_Silent_p.F197F|ZFYVE9_uc001ctp.2_Silent_p.F197F	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	197					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						AATTTAGTTTTAGTATAAATG	0.333													C	52703680	T	C	52703680	2	2	96	1	0	0	0	0	0	0	0	1	17668	1751	61	3		3	ZFYVE9	1	52703680	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1818739	52703680	196546941	28	62990											
SCP2	6342	broad.mit.edu	37	chr1	53493736	53493736	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaggagattgagaagaaacTtgaagaggtaagatttatgt	12	1	0	6			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:53493736T>C	uc001cur.1	+	13	1452	c.1331T>C	c.(1330-1332)CTT>CCT	p.L444P	SCP2_uc001cus.1_RNA|SCP2_uc010ono.1_Missense_Mutation_p.L363P|SCP2_uc010onp.1_Missense_Mutation_p.L420P|SCP2_uc009vzi.1_Missense_Mutation_p.L400P|SCP2_uc010onq.1_Missense_Mutation_p.L40P|SCP2_uc001cut.1_Missense_Mutation_p.L37P|SCP2_uc001cuu.1_Missense_Mutation_p.L40P	NM_002979	NP_002970	P22307	NLTP_HUMAN	sterol carrier protein 2 isoform 1 proprotein	444	SCP2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)	1						GAGAAGAAACTTGAAGAGGTA	0.408													C	53493736	T	C	53493736	3	2	96	1	0	0	0	0	1	0	0	0	13934	1609	56	3	1405	3	SCP2	1	53493736	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	790056	53493736	195756885	29	62991											
C1orf177	163747	broad.mit.edu	37	chr1	55279516	55279516	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccagggaactgatgaatttCaagagctttgtagaagaact	10	7	1	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:55279516C>T	uc001cyb.3	+	7	846	c.792C>T	c.(790-792)TTC>TTT	p.F264F	C1orf177_uc001cya.3_Silent_p.F264F	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	hypothetical protein LOC163747 isoform 2	264											0						TGATGAATTTCAAGAGCTTTG	0.413													T	55279516	C	T	55279516	2	4	96	1	0	0	0	0	0	0	0	1	2017	825	29	4		4	C1orf177	1	55279516	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	1785780	55279516	193971105	30	62992											
PRKAA2	5563	broad.mit.edu	37	chr1	57173228	57173228	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcttacacagaccaagatcaAgttttgattccacaactgca	6	11	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:57173228A>T	uc001cyk.3	+	9	1572	c.1501A>T	c.(1501-1503)AGT>TGT	p.S501C		NM_006252	NP_006243	P54646	AAPK2_HUMAN	AMP-activated protein kinase alpha 2 catalytic	501					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(4)|ovary(1)|stomach(1)	6						ACCAAGATCAAGTTTTGATTC	0.493													T	57173228	A	T	57173228	3	4	96	1	0	0	0	0	1	0	0	0	12494	72	3	5	1535	5	PRKAA2	1	57173228	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1893712	57173228	192077393	31	62993											
CYP2J2	1573	broad.mit.edu	37	chr1	60381714	60381714	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaagggcaagccagtaataAgaactgcagatatgtcacca	9	8	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:60381714A>C	uc001czq.2	-	2	274	c.269T>G	c.(268-270)CTT>CGT	p.L90R		NM_000775	NP_000766	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J,	90					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			ovary(1)	1	all_cancers(7;0.000396)					GCCAGTAATAAGAACTGCAGA	0.403													C	60381714	A	C	60381714	3	2	96	1	0	0	0	0	1	0	0	0	4172	72	3	5	1271	5	CYP2J2	1	60381714	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3208486	60381714	188868907	32	62994											
KANK4	163782	broad.mit.edu	37	chr1	62733982	62733982	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggccttggagtgggggacTtcttccccaggcccactttc	12	14	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:62733982T>C	uc001dah.3	-	5	2585	c.2208A>G	c.(2206-2208)GAA>GAG	p.E736E	KANK4_uc001dai.3_Silent_p.E108E|KANK4_uc001dag.3_Silent_p.E92E	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	736										ovary(3)|skin(2)|lung(1)	6						AGTGGGGGACTTCTTCCCCAG	0.567													C	62733982	T	C	62733982	2	2	96	1	0	0	0	0	0	0	0	1	7979	1606	56	3		3	KANK4	1	62733982	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2352268	62733982	186516639	33	62995											
EFCAB7	84455	broad.mit.edu	37	chr1	64036736	64036736	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagcaatgagctaagtaaAaactgcataaacaacagagg	8	7	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:64036736A>C	uc001dbf.2	+	13	2046	c.1752A>C	c.(1750-1752)AAA>AAC	p.K584N		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	584							calcium ion binding				0						AGCTAAGTAAAAACTGCATAA	0.299													C	64036736	A	C	64036736	3	2	96	1	0	0	0	0	1	0	0	0	4940	11	1	5	1798	5	EFCAB7	1	64036736	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1302754	64036736	185213885	34	62996											
SGIP1	84251	broad.mit.edu	37	chr1	67142729	67142729	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atggggttcaggccaaccaaTtaatccaagcatggagtcgc	11	10	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:67142729T>G	uc001dcr.2	+	13	906	c.689T>G	c.(688-690)ATT>AGT	p.I230S	SGIP1_uc010opd.1_5'UTR|SGIP1_uc001dcs.2_5'UTR|SGIP1_uc001dct.2_5'UTR|uc010ope.1_5'Flank|SGIP1_uc009wat.2_5'UTR	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	230	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						GGCCAACCAATTAATCCAAGC	0.398													G	67142729	T	G	67142729	3	3	96	1	0	0	0	0	1	0	0	0	14206	1493	52	5	739	5	SGIP1	1	67142729	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3105993	67142729	182107892	35	62997											
DIRAS3	9077	broad.mit.edu	37	chr1	68512291	68512291	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctcttaaggcccagggcTcacatgattatgcacttgtc	10	11	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:68512291T>C	uc001ded.2	-	2	985	c.690A>G	c.(688-690)TGA>TGG	p.*230W	uc001deb.1_Intron|uc001dec.1_Intron	NM_004675	NP_004666	O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	230					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			skin(1)	1						GGCCCAGGGCTCACATGATTA	0.483													C	68512291	T	C	68512291	4	2	96	1	0	0	0	0	0	0	0	0	4532	1564	54	3	3	3	DIRAS3	1	68512291	Nonstop_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1369562	68512291	180738330	36	62998											
RPE65	6121	broad.mit.edu	37	chr1	68912456	68912456	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggagggcttgcccatcaAacaggtggtaaaatggctca	13	9	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:68912456A>C	uc001dei.1	-	3	236	c.182T>G	c.(181-183)TTT>TGT	p.F61C		NM_000329	NP_000320	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein	61					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			ovary(1)	1						TTGCCCATCAAACAGGTGGTA	0.522													C	68912456	A	C	68912456	3	2	96	1	0	0	0	0	1	0	0	0	13545	14	1	5	1467	5	RPE65	1	68912456	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	400165	68912456	180338165	37	62999											
LRRIQ3	127255	broad.mit.edu	37	chr1	74621506	74621506	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaattgcattaatttttgaAgtaatatgtttaatattatt	5	1	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:74621506A>T	uc001dfy.3	-	4	810	c.618T>A	c.(616-618)ACT>ACA	p.T206T	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	206										ovary(2)	2						TAATTTTTGAAGTAATATGTT	0.244													T	74621506	A	T	74621506	2	4	96	1	0	0	0	0	0	0	0	1	9030	59	3	5		5	LRRIQ3	1	74621506	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	5709050	74621506	174629115	38	63000											
LPHN2	23266	broad.mit.edu	37	chr1	82445580	82445580	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatcttcttggtgatcacaTtgtgcaaaatggtgaagcat	9	6	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:82445580T>G	uc001dit.3	+	17	3179	c.2998T>G	c.(2998-3000)TTG>GTG	p.L1000V	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.L1000V|LPHN2_uc001div.2_Missense_Mutation_p.L1000V|LPHN2_uc009wcd.2_Missense_Mutation_p.L1000V|LPHN2_uc001diw.2_Missense_Mutation_p.L584V|LPHN2_uc009wce.1_Missense_Mutation_p.L86V	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1013	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGTGATCACATTGTGCAAAAT	0.294													G	82445580	T	G	82445580	3	3	96	1	0	0	0	0	1	0	0	0	8916	1490	52	5	3056	5	LPHN2	1	82445580	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	7824074	82445580	166805041	39	63001											
TTLL7	79739	broad.mit.edu	37	chr1	84387044	84387044	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctttgagcctcagctttTtgtttggccaagtttcttct	7	11	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:84387044T>G	uc001djc.2	-	11	1572	c.1176A>C	c.(1174-1176)CAA>CAC	p.Q392H	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	392					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CCTCAGCTTTTTGTTTGGCCA	0.428													G	84387044	T	G	84387044	3	3	96	1	0	0	0	0	1	0	0	0	16729	1838	64	5	1531	5	TTLL7	1	84387044	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1941464	84387044	164863577	40	63002											
TTLL7	79739	broad.mit.edu	37	chr1	84412957	84412957	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tataatccagaggccgagacTtgatcattctgtaaattgga	9	7	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:84412957T>A	uc001djc.2	-	6	752	c.356A>T	c.(355-357)AAG>ATG	p.K119M	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	119	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		AGGCCGAGACTTGATCATTCT	0.328													A	84412957	T	A	84412957	3	1	96	1	0	0	0	0	1	0	0	0	16729	1609	56	5	2371	5	TTLL7	1	84412957	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	25913	84412957	164837664	41	63003											
MCOLN3	55283	broad.mit.edu	37	chr1	85486830	85486830	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tataaagaggctgatgaatgAgtagaggtaaattctactaa	10	3	1	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:85486830A>C	uc001dkp.2	-	12	1543	c.1450T>G	c.(1450-1452)TCA>GCA	p.S484A	MCOLN3_uc001dko.2_Missense_Mutation_p.S103A|MCOLN3_uc001dkq.2_Missense_Mutation_p.S428A	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	mucolipin 3	484	Helical; (Potential).					integral to membrane	ion channel activity			skin(1)	1				all cancers(265;0.00957)|Epithelial(280;0.0254)		CTGATGAATGAGTAGAGGTAA	0.338													C	85486830	A	C	85486830	3	2	96	1	0	0	0	0	1	0	0	0	9397	304	11	5	219	5	MCOLN3	1	85486830	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1073873	85486830	163763791	42	63004											
SYDE2	84144	broad.mit.edu	37	chr1	85648753	85648753	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggaaagtttcctcacagtTcgtggagattttattttatc	8	6	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:85648753T>C	uc009wcm.2	-	3	1621	c.1572A>G	c.(1570-1572)CGA>CGG	p.R524R	SYDE2_uc001dku.3_Silent_p.R524R	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2	524					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|central_nervous_system(1)	2				all cancers(265;0.0126)|Epithelial(280;0.0336)		TCCTCACAGTTCGTGGAGATT	0.358													C	85648753	T	C	85648753	2	2	96	1	0	0	0	0	0	0	0	1	15433	1770	62	3		3	SYDE2	1	85648753	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	161923	85648753	163601868	43	63005											
BARHL2	343472	broad.mit.edu	37	chr1	91178170	91178170	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaccgctgtctgccgcTtccacttggtcctgaaagaa	10	15	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:91178170T>C	uc001dns.2	-	3	905	c.863A>G	c.(862-864)AAG>AGG	p.K288R		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	288	Homeobox.					nucleus	sequence-specific DNA binding			ovary(1)	1		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		TGTCTGCCGCTTCCACTTGGT	0.622													C	91178170	T	C	91178170	3	2	96	1	0	0	0	0	1	0	0	0	1314	1609	56	3	304	3	BARHL2	1	91178170	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5529417	91178170	158072451	44	63006											
CCDC18	343099	broad.mit.edu	37	chr1	93667544	93667544	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggctgaaaaactggaaaAggtaaaaggcagttgtgcaa	13	4	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:93667544A>C	uc001dpq.2	+	7	1316	c.1148A>C	c.(1147-1149)AAG>ACG	p.K383T		NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	265	Potential.									ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAACTGGAAAAGGTAAAAGGC	0.333													C	93667544	A	C	93667544	3	2	96	1	0	0	0	0	1	0	0	0	2794	86	3	5	1174	5	CCDC18	1	93667544	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2489374	93667544	155583077	45	63007											
F3	2152	broad.mit.edu	37	chr1	94998735	94998735	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttaggaaagtgttgttccTtctgactaaagtccgttcat	9	8	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:94998735T>G	uc001dqr.2	-	4	681	c.502A>C	c.(502-504)AGG>CGG	p.R168R	F3_uc001dqp.2_RNA|F3_uc001dqq.2_RNA|F3_uc001dqs.2_Silent_p.R168R	NM_001993	NP_001984	P13726	TF_HUMAN	coagulation factor III precursor	168	Extracellular (Potential).				activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			central_nervous_system(1)	1		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	GTGTTGTTCCTTCTGACTAAA	0.398													G	94998735	T	G	94998735	2	3	96	1	0	0	0	0	0	0	0	1	5347	1608	56	5		5	F3	1	94998735	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1331191	94998735	154251886	46	63008											
LPPR4	9890	broad.mit.edu	37	chr1	99771358	99771358	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accgacttttatctgctaaaAatggtagcagcagtgatgga	10	7	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:99771358A>G	uc001dse.2	+	7	1190	c.1084A>G	c.(1084-1086)AAT>GAT	p.N362D	LPPR4_uc010oue.1_Missense_Mutation_p.N304D	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	362							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ATCTGCTAAAAATGGTAGCAG	0.458													G	99771358	A	G	99771358	3	3	96	1	0	0	0	0	1	0	0	0	8927	14	1	3	1110	3	LPPR4	1	99771358	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4772623	99771358	149479263	47	63009											
GPSM2	29899	broad.mit.edu	37	chr1	109444457	109444457	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttaaagaccgagctgtagaAgcacagtcttgttacagtct	9	9	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:109444457A>C	uc010ovc.1	+	8	1339	c.843A>C	c.(841-843)GAA>GAC	p.E281D	AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Missense_Mutation_p.E281D|GPSM2_uc010ove.1_Missense_Mutation_p.E281D	NM_013296	NP_037428	P81274	GPSM2_HUMAN	LGN protein	281					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		GAGCTGTAGAAGCACAGTCTT	0.373													C	109444457	A	C	109444457	3	2	96	1	0	0	0	0	1	0	0	0	6735	69	3	5	869	5	GPSM2	1	109444457	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	9673099	109444457	139806164	48	63010											
KCNA10	3744	broad.mit.edu	37	chr1	111060063	111060063	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgacaggcacagggagggcAatggtgaggacccctgcaat	15	9	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:111060063A>G	uc001dzt.1	-	1	1735	c.1347T>C	c.(1345-1347)ATT>ATC	p.I449I		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	449	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CAGGGAGGGCAATGGTGAGGA	0.522													G	111060063	A	G	111060063	2	3	96	1	0	0	0	0	0	0	0	1	8002	126	5	3		3	KCNA10	1	111060063	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1615606	111060063	138190558	49	63011											
ST7L	54879	broad.mit.edu	37	chr1	113120988	113120988	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctgaaacagtccttgtcTtcaacagtgctgctgtgtaa	8	9	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:113120988T>G	uc001ecd.2	-	10	1426	c.1121A>C	c.(1120-1122)AAG>ACG	p.K374T	ST7L_uc009wgh.2_RNA|ST7L_uc001ecc.2_Missense_Mutation_p.K191T|ST7L_uc010owg.1_Missense_Mutation_p.K309T|ST7L_uc010owh.1_Missense_Mutation_p.K168T|ST7L_uc001ece.2_Missense_Mutation_p.K374T|ST7L_uc001ecf.2_Missense_Mutation_p.K357T|ST7L_uc001ecg.2_RNA|ST7L_uc010owi.1_Missense_Mutation_p.K309T|ST7L_uc001ech.2_Missense_Mutation_p.K357T|ST7L_uc001eci.2_Missense_Mutation_p.K374T|ST7L_uc009wgi.1_RNA|ST7L_uc010owj.1_Missense_Mutation_p.K357T	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7-like isoform 1	374					negative regulation of cell growth	integral to membrane	binding				0	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTCCTTGTCTTCAACAGTGC	0.343													G	113120988	T	G	113120988	3	3	96	1	0	0	0	0	1	0	0	0	15229	1609	56	5	669	5	ST7L	1	113120988	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2060925	113120988	136129633	50	63012											
SYCP1	6847	broad.mit.edu	37	chr1	115418757	115418757	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagactggaaatgcattttaAgtgtaggtatagggatctta	11	4	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:115418757A>C	uc001efr.2	+	10	934	c.725A>C	c.(724-726)AAG>ACG	p.K242T	SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.K242T|SYCP1_uc009wgw.2_Missense_Mutation_p.K242T	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	242	Potential.				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding			skin(1)	1	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)		ATGCATTTTAAGTGTAGGTAT	0.274													C	115418757	A	C	115418757	3	2	96	1	0	0	0	0	1	0	0	0	15428	72	3	5	759	5	SYCP1	1	115418757	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2297769	115418757	133831864	51	63013											
PTGFRN	5738	broad.mit.edu	37	chr1	117509665	117509665	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttctcatcatggctgagaAgcctgtcggcgacctctcca	10	13	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:117509665A>G	uc001egv.1	+	6	1909	c.1772A>G	c.(1771-1773)AAG>AGG	p.K591R		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	591	Ig-like C2-type 5.|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			liver(1)	1	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		ATGGCTGAGAAGCCTGTCGGC	0.473													G	117509665	A	G	117509665	3	3	96	1	0	0	0	0	1	0	0	0	12750	72	3	3	1794	3	PTGFRN	1	117509665	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2090908	117509665	131740956	52	63014											
SPAG17	200162	broad.mit.edu	37	chr1	118571009	118571009	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaggttctggttctacTtcttcttcctgtaaataatt	5	8	4	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:118571009T>G	uc001ehk.2	-	26	3686	c.3618A>C	c.(3616-3618)GAA>GAC	p.E1206D		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1206						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTGGTTCTACTTCTTCTTCCT	0.413													G	118571009	T	G	118571009	3	3	96	1	0	0	0	0	1	0	0	0	14979	1606	56	5	3145	5	SPAG17	1	118571009	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1061344	118571009	130679612	53	63015											
SPAG17	200162	broad.mit.edu	37	chr1	118629317	118629317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtgcgtacttcttgtgggCgtgtgcatcatgatagttca	12	7	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:118629317C>T	uc001ehk.2	-	12	1656	c.1588G>A	c.(1588-1590)GCC>ACC	p.A530T		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	530						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCTTGTGGGCGTGTGCATCA	0.393													T	118629317	C	T	118629317	3	4	96	1	0	0	0	0	1	0	0	0	14979	768	27	1	5231	1	SPAG17	1	118629317	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	58308	118629317	130621304	54	63016											
PDE4DIP	9659	broad.mit.edu	37	chr1	144922549	144922549	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgcttttcagagtttccttGaggttctgaattgtaccatc	8	9	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:144922549G>C	uc001elw.3	-	7	1149	c.858C>G	c.(856-858)CTC>CTG	p.L286L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.L352L|PDE4DIP_uc001emc.1_Silent_p.L286L|PDE4DIP_uc001emd.1_Silent_p.L286L|PDE4DIP_uc001emb.1_Silent_p.L449L|PDE4DIP_uc001eme.1_5'Flank|PDE4DIP_uc001emf.1_Silent_p.L73L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	286	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAGTTTCCTTGAGGTTCTGAA	0.383			T	PDGFRB	MPD								C	144922549	G	C	144922549	2	2	96	1	0	0	0	0	0	0	0	1	11643	1277	45	5		5	PDE4DIP	1	144922549	Silent	SNP	G	TCGA-BR-8589-01A-11D-2394-08	26293232	144922549	104328072	55	63017											
PDE4DIP	9659	broad.mit.edu	37	chr1	144952201	144952201	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcaccgaaggcacctacTtgtccctctgggccagggcc	12	15	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:144952201T>G	uc001elw.3	-	4	809	c.518A>C	c.(517-519)AAG>ACG	p.K173T	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.K239T|PDE4DIP_uc001emc.1_Missense_Mutation_p.K173T|PDE4DIP_uc001emd.1_Missense_Mutation_p.K173T|PDE4DIP_uc001emg.1_Missense_Mutation_p.K173T|PDE4DIP_uc001emh.2_Missense_Mutation_p.K310T	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	173	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGGCACCTACTTGTCCCTCTG	0.522			T	PDGFRB	MPD								G	144952201	T	G	144952201	3	3	96	1	0	0	0	0	1	0	0	0	11643	1623	56	5	7829	5	PDE4DIP	1	144952201	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	29652	144952201	104298420	56	63018											
TXNIP	10628	broad.mit.edu	37	chr1	145441019	145441019	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatctttatgtatgcccctgAgttcaagttcatgccaccac	6	12	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:145441019A>T	uc001enn.3	+	7	1447	c.1106A>T	c.(1105-1107)GAG>GTG	p.E369V	NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.E314V	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	369					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			ovary(2)	2	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TATGCCCCTGAGTTCAAGTTC	0.443													T	145441019	A	T	145441019	3	4	96	1	0	0	0	0	1	0	0	0	16800	304	11	5	1132	5	TXNIP	1	145441019	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	488818	145441019	103809602	57	63019											
NBPF15	284565	broad.mit.edu	37	chr1	148594490	148594490	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcaatgtactttgaacaAcctgactcattccagcacta	5	13	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:148594490A>C	uc001esc.2	+	19	2352	c.1863A>C	c.(1861-1863)CAA>CAC	p.Q621H		NM_173638	NP_775909	Q8N660	NBPFF_HUMAN	hypothetical protein LOC284565	621	NBPF 6.					cytoplasm					0	all_hematologic(923;0.032)					ACTTTGAACAACCTGACTCAT	0.448													C	148594490	A	C	148594490	3	2	96	1	0	0	0	0	1	0	0	0	10195	40	2	5	1921	5	NBPF15	1	148594490	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3153471	148594490	100656131	58	63020											
PLEKHO1	51177	broad.mit.edu	37	chr1	150128276	150128276	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaggtaaaagatgagaaaaAtattcaagaggtatttgacc	9	4	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:150128276A>C	uc001ett.2	+	3	472	c.194A>C	c.(193-195)AAT>ACT	p.N65T	PLEKHO1_uc001etr.2_5'UTR|PLEKHO1_uc001ets.2_5'UTR|PLEKHO1_uc001etu.2_5'UTR	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O	65	PH.					cytoplasm|nucleus|plasma membrane				lung(1)	1	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GATGAGAAAAATATTCAAGAG	0.433													C	150128276	A	C	150128276	3	2	96	1	0	0	0	0	1	0	0	0	12084	101	4	5	204	5	PLEKHO1	1	150128276	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1533786	150128276	99122345	59	63021											
RPRD2	23248	broad.mit.edu	37	chr1	150443335	150443335	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttacagctacccacaatacTagccctgctgccccacctac	4	18	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:150443335T>C	uc009wlr.2	+	11	2112	c.1911T>C	c.(1909-1911)ACT>ACC	p.T637T	RPRD2_uc010pcc.1_Silent_p.T611T|RPRD2_uc001eup.3_Silent_p.T611T	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	637	Ser-rich.						protein binding			ovary(1)	1						CCCACAATACTAGCCCTGCTG	0.522													C	150443335	T	C	150443335	2	2	96	1	0	0	0	0	0	0	0	1	13617	1509	53	3		3	RPRD2	1	150443335	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	315059	150443335	98807286	60	63022											
POGZ	23126	broad.mit.edu	37	chr1	151384138	151384138	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgttggaatgcattgccaTttttgaagaccttcaggcaa	10	8	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:151384138T>G	uc001eyd.1	-	12	2195	c.1889A>C	c.(1888-1890)AAT>ACT	p.N630T	POGZ_uc001eye.1_Missense_Mutation_p.N577T|POGZ_uc010pdb.1_Missense_Mutation_p.N621T|POGZ_uc001eyf.1_Missense_Mutation_p.N586T|POGZ_uc010pdc.1_Missense_Mutation_p.N568T|POGZ_uc009wmv.1_Missense_Mutation_p.N535T|POGZ_uc010pdd.1_Missense_Mutation_p.N121T	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	630	C2H2-type 6.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCATTGCCATTTTTGAAGAC	0.438													G	151384138	T	G	151384138	3	3	96	1	0	0	0	0	1	0	0	0	12186	1493	52	5	2375	5	POGZ	1	151384138	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	940803	151384138	97866483	61	63023											
TCHHL1	126637	broad.mit.edu	37	chr1	152059288	152059288	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttctctttgtaggggtggTtcttgtatattagagtgttt	11	4	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:152059288T>G	uc001ezo.1	-	3	935	c.870A>C	c.(868-870)GAA>GAC	p.E290D		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	290							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTAGGGGTGGTTCTTGTATAT	0.443													G	152059288	T	G	152059288	3	3	96	1	0	0	0	0	1	0	0	0	15698	1722	60	5	1848	5	TCHHL1	1	152059288	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	675150	152059288	97191333	62	63024											
FLG	2312	broad.mit.edu	37	chr1	152278844	152278844	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcctcattacgtgttgTtctgcttgcacttctggatc	8	10	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:152278844T>A	uc001ezu.1	-	3	8554	c.8518A>T	c.(8518-8520)ACA>TCA	p.T2840S		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2840	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTACGTGTTGTTCTGCTTGCA	0.562									Ichthyosis				A	152278844	T	A	152278844	3	1	96	1	0	0	0	0	1	0	0	0	5922	1725	60	5	3671	5	FLG	1	152278844	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	219556	152278844	96971777	63	63025											
FLG	2312	broad.mit.edu	37	chr1	152281847	152281847	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgtgatgagaccctgAgtgtccagaactatctaccg	12	10	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:152281847A>G	uc001ezu.1	-	3	5551	c.5515T>C	c.(5515-5517)TCA>CCA	p.S1839P		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1839	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGACCCTGAGTGTCCAGAA	0.547									Ichthyosis				G	152281847	A	G	152281847	3	3	96	1	0	0	0	0	1	0	0	0	5922	304	11	3	6674	3	FLG	1	152281847	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3003	152281847	96968774	64	63026											
FLG	2312	broad.mit.edu	37	chr1	152283117	152283117	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctgatggggcccagcTtgtccgtgggctgacactga	14	12	1	3	rs150981235		TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:152283117T>C	uc001ezu.1	-	3	4281	c.4245A>G	c.(4243-4245)CAA>CAG	p.Q1415Q	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1415	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGGCCCAGCTTGTCCGTGGG	0.562									Ichthyosis				C	152283117	T	C	152283117	2	2	96	1	0	0	0	0	0	0	0	1	5922	1606	56	3		3	FLG	1	152283117	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1270	152283117	96967504	65	63027											
SPRR2D	6703	broad.mit.edu	37	chr1	153012624	153012624	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacttgctcttgggtggacActttggctggcagggtgggg	17	7	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:153012624A>C	uc001fbb.2	-	2	259	c.199T>G	c.(199-201)TGT>GGT	p.C67G	SPRR2D_uc009wnz.2_RNA	NM_006945	NP_008876	P22532	SPR2D_HUMAN	small proline-rich protein 2D	67					keratinization	cornified envelope|cytoplasm					0	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTGGGTGGACACTTTGGCTGG	0.542													C	153012624	A	C	153012624	3	2	96	1	0	0	0	0	1	0	0	0	15098	159	6	5	23	5	SPRR2D	1	153012624	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	729507	153012624	96237997	66	63028											
ADAR	103	broad.mit.edu	37	chr1	154561054	154561054	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagatggaatgacacagtcTtttttatttggagcttttct	8	6	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:154561054T>C	uc001ffh.2	-	10	3058	c.2858A>G	c.(2857-2859)AAG>AGG	p.K953R	ADAR_uc001ffj.2_Missense_Mutation_p.K908R|ADAR_uc001ffi.2_Missense_Mutation_p.K927R|ADAR_uc001ffk.2_Missense_Mutation_p.K658R	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	953	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGACACAGTCTTTTTTATTTG	0.443													C	154561054	T	C	154561054	3	2	96	1	0	0	0	0	1	0	0	0	281	1609	56	3	846	3	ADAR	1	154561054	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1548430	154561054	94689567	67	63029											
ASH1L	55870	broad.mit.edu	37	chr1	155448496	155448496	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagcagctgtaaggggtgAaggagagtaaggcataccat	17	5	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:155448496A>C	uc009wqq.2	-	3	4645	c.4165T>G	c.(4165-4167)TCA>GCA	p.S1389A	ASH1L_uc001fkt.2_Missense_Mutation_p.S1389A|ASH1L_uc009wqr.1_Missense_Mutation_p.S1389A	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1389	Pro-rich.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GTAAGGGGTGAAGGAGAGTAA	0.468													C	155448496	A	C	155448496	3	2	96	1	0	0	0	0	1	0	0	0	1041	246	9	5	4833	5	ASH1L	1	155448496	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	887442	155448496	93802125	68	63030											
ASH1L	55870	broad.mit.edu	37	chr1	155450488	155450488	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagaccggcatgtgcttcTtgccaccactttagtccacc	9	14	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:155450488T>C	uc009wqq.2	-	3	2653	c.2173A>G	c.(2173-2175)AGA>GGA	p.R725G	ASH1L_uc001fkt.2_Missense_Mutation_p.R725G|ASH1L_uc009wqr.1_Missense_Mutation_p.R725G	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	725					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CATGTGCTTCTTGCCACCACT	0.403													C	155450488	T	C	155450488	3	2	96	1	0	0	0	0	1	0	0	0	1041	1617	56	3	6825	3	ASH1L	1	155450488	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1992	155450488	93800133	69	63031											
CCDC19	25790	broad.mit.edu	37	chr1	159842746	159842746	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcacctcagctcttcaAgctttttcctcttgatctca	5	15	5	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:159842746A>G	uc001fui.2	-	11	1583	c.1565T>C	c.(1564-1566)CTT>CCT	p.L522P	CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.L437P|CCDC19_uc001ful.2_Missense_Mutation_p.L437P	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	522	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CAGCTCTTCAAGCTTTTTCCT	0.567													G	159842746	A	G	159842746	3	3	96	1	0	0	0	0	1	0	0	0	2795	72	3	3	98	3	CCDC19	1	159842746	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4392258	159842746	89407875	70	63032											
CASQ1	844	broad.mit.edu	37	chr1	160168757	160168757	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaagatggtttcgagttcTtagagactctcaaggctgtg	11	8	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:160168757T>G	uc010pja.1	+	9	1155	c.898T>G	c.(898-900)TTA>GTA	p.L300V		NM_001231	NP_001222	P31415	CASQ1_HUMAN	calsequestrin 1	300						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			central_nervous_system(1)	1	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTTCGAGTTCTTAGAGACTCT	0.507													G	160168757	T	G	160168757	3	3	96	1	0	0	0	0	1	0	0	0	2680	1606	56	5	932	5	CASQ1	1	160168757	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	326011	160168757	89081864	71	63033											
OLFML2B	25903	broad.mit.edu	37	chr1	161969998	161969998	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaggccggccggcctctcAggtggacctgcctctgcagg	17	14	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:161969998A>C	uc001gbu.2	-	5	1278	c.854T>G	c.(853-855)CTG>CGG	p.L285R	OLFML2B_uc010pkq.1_Missense_Mutation_p.L286R	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	285										skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CCGGCCTCTCAGGTGGACCTG	0.597													C	161969998	A	C	161969998	3	2	96	1	0	0	0	0	1	0	0	0	10858	188	7	5	1414	5	OLFML2B	1	161969998	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1801241	161969998	87280623	72	63034											
LRRC52	440699	broad.mit.edu	37	chr1	165532984	165532984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagatgaggacgaggccGggactagggtggaagtcagc	18	6	1	3	rs150359687	byFrequency	TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:165532984G>A	uc001gde.2	+	2	921	c.865G>A	c.(865-867)GGG>AGG	p.G289R	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	289	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GGACGAGGCCGGGACTAGGGT	0.567													A	165532984	G	A	165532984	3	1	96	1	0	0	0	0	1	0	0	0	9010	1116	39	1	871	1	LRRC52	1	165532984	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	3562986	165532984	83717637	73	63035											
ADCY10	55811	broad.mit.edu	37	chr1	167823637	167823637	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcttttcctcagactccgtTtgttggaaaacgagtacctc	8	11	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:167823637T>C	uc001ger.2	-	18	2560	c.2262A>G	c.(2260-2262)CAA>CAG	p.Q754Q	ADCY10_uc009wvk.2_Silent_p.Q662Q|ADCY10_uc010plj.1_Silent_p.Q601Q|ADCY10_uc009wvl.2_Silent_p.Q753Q	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	754					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						CAGACTCCGTTTGTTGGAAAA	0.433													C	167823637	T	C	167823637	2	2	96	1	0	0	0	0	0	0	0	1	293	1838	64	3		3	ADCY10	1	167823637	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2290653	167823637	81426984	74	63036											
XCL1	6375	broad.mit.edu	37	chr1	168550314	168550314	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attaccaaacgtggcctaaaAgtctgtgctgatccacaagc	8	11	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:168550314A>G	uc001gfo.1	+	3	221	c.201A>G	c.(199-201)AAA>AAG	p.K67K		NM_002995	NP_002986	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	67					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity				0	all_hematologic(923;0.208)					GTGGCCTAAAAGTCTGTGCTG	0.478													G	168550314	A	G	168550314	2	3	96	1	0	0	0	0	0	0	0	1	17420	69	3	3		3	XCL1	1	168550314	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	726677	168550314	80700307	75	63037											
F5	2153	broad.mit.edu	37	chr1	169510764	169510764	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggtcacctggctgaggtcTggagagatgactgtctgcca	15	9	3	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:169510764T>C	uc001ggg.1	-	13	3709	c.3564A>G	c.(3562-3564)CCA>CCG	p.P1188P		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1188	2-1.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGCTGAGGTCTGGAGAGATGA	0.502													C	169510764	T	C	169510764	2	2	96	1	0	0	0	0	0	0	0	1	5348	1567	55	3		3	F5	1	169510764	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	960450	169510764	79739857	76	63038											
F5	2153	broad.mit.edu	37	chr1	169511737	169511737	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaccttgggtcccttatgcTtagcatgttcttgacttttg	8	10	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:169511737T>G	uc001ggg.1	-	13	2736	c.2591A>C	c.(2590-2592)AAG>ACG	p.K864T		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	864	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCCCTTATGCTTAGCATGTTC	0.443													G	169511737	T	G	169511737	3	3	96	1	0	0	0	0	1	0	0	0	5348	1609	56	5	4135	5	F5	1	169511737	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	973	169511737	79738884	77	63039											
FMO3	2328	broad.mit.edu	37	chr1	171086467	171086467	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgggaccggtcgttgaAacccatgcagacacgagtgg	14	11	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:171086467A>C	uc001ghi.2	+	9	1595	c.1484A>C	c.(1483-1485)AAA>ACA	p.K495T	FMO3_uc001ghh.2_Missense_Mutation_p.K495T|FMO3_uc010pmb.1_Missense_Mutation_p.K475T|FMO3_uc010pmc.1_Missense_Mutation_p.K432T	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	495					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CGGTCGTTGAAACCCATGCAG	0.517													C	171086467	A	C	171086467	3	2	96	1	0	0	0	0	1	0	0	0	5956	14	1	5	1514	5	FMO3	1	171086467	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1574730	171086467	78164154	78	63040											
SLC9A11	284525	broad.mit.edu	37	chr1	173503803	173503803	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatactatgtgaaatataaaAgtcagaaatgtattactcct	5	5	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:173503803A>G	uc001giz.2	-	16	2217	c.1794T>C	c.(1792-1794)ACT>ACC	p.T598T	SLC9A11_uc009wwe.2_Silent_p.T156T|SLC9A11_uc010pmq.1_Intron	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	598					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						GAAATATAAAAGTCAGAAATG	0.254													G	173503803	A	G	173503803	2	3	96	1	0	0	0	0	0	0	0	1	14711	59	3	3		3	SLC9A11	1	173503803	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2417336	173503803	75746818	79	63041											
ANGPTL1	9068	broad.mit.edu	37	chr1	178834562	178834562	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctttcctttctcagcagcTttacctcattcacaatgttt	5	12	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:178834562T>G	uc001gma.2	-	3	826	c.350A>C	c.(349-351)AAG>ACG	p.K117T	RALGPS2_uc001gly.1_Intron|RALGPS2_uc001glz.2_Intron|RALGPS2_uc010pnb.1_Intron|ANGPTL1_uc001gmb.2_Missense_Mutation_p.K117T|ANGPTL1_uc010pnc.1_Missense_Mutation_p.K39T	NM_004673	NP_004664	O95841	ANGL1_HUMAN	angiopoietin-like 1 precursor	117	Potential.					extracellular space	receptor binding				0						TCTCAGCAGCTTTACCTCATT	0.423													G	178834562	T	G	178834562	3	3	96	1	0	0	0	0	1	0	0	0	613	1609	56	5	1141	5	ANGPTL1	1	178834562	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5330759	178834562	70416059	80	63042											
ABL2	27	broad.mit.edu	37	chr1	179089374	179089374	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttccttcattactgcagcTtctttcaggaattcttctac	4	11	5	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:179089374T>G	uc001gmj.3	-	6	1283	c.996A>C	c.(994-996)GAA>GAC	p.E332D	ABL2_uc010pnf.1_Missense_Mutation_p.E332D|ABL2_uc010png.1_Missense_Mutation_p.E311D|ABL2_uc010pnh.1_Missense_Mutation_p.E311D|ABL2_uc009wxe.2_Missense_Mutation_p.E311D|ABL2_uc001gmg.3_Missense_Mutation_p.E317D|ABL2_uc001gmi.3_Missense_Mutation_p.E317D|ABL2_uc001gmh.3_Missense_Mutation_p.E296D|ABL2_uc010pne.1_Missense_Mutation_p.E296D|ABL2_uc009wxf.1_Missense_Mutation_p.E317D|ABL2_uc001gmk.2_Missense_Mutation_p.E296D	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	332	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTACTGCAGCTTCTTTCAGGA	0.393			T	ETV6	AML								G	179089374	T	G	179089374	3	3	96	1	0	0	0	0	1	0	0	0	93	1606	56	5	2625	5	ABL2	1	179089374	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	254812	179089374	70161247	81	63043											
ABL2	27	broad.mit.edu	37	chr1	179095648	179095648	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagactgctgagcagatacTcagctgcactgcgtgacaca	10	11	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:179095648T>C	uc001gmj.3	-	4	838	c.551A>G	c.(550-552)GAG>GGG	p.E184G	ABL2_uc010pnf.1_Missense_Mutation_p.E184G|ABL2_uc010png.1_Missense_Mutation_p.E163G|ABL2_uc010pnh.1_Missense_Mutation_p.E163G|ABL2_uc009wxe.2_Missense_Mutation_p.E163G|ABL2_uc001gmg.3_Missense_Mutation_p.E169G|ABL2_uc001gmi.3_Missense_Mutation_p.E169G|ABL2_uc001gmh.3_Missense_Mutation_p.E148G|ABL2_uc010pne.1_Missense_Mutation_p.E148G|ABL2_uc009wxf.1_Missense_Mutation_p.E169G|ABL2_uc001gmk.2_Missense_Mutation_p.E148G	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	184	SH2.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GAGCAGATACTCAGCTGCACT	0.557			T	ETV6	AML								C	179095648	T	C	179095648	3	2	96	1	0	0	0	0	1	0	0	0	93	1551	54	3	3078	3	ABL2	1	179095648	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	6274	179095648	70154973	82	63044											
SOAT1	6646	broad.mit.edu	37	chr1	179304702	179304702	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgattttgtgaccaatcTcattgaaaagtcagcatcat	7	7	3	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:179304702T>C	uc001gml.2	+	4	302	c.239T>C	c.(238-240)CTC>CCC	p.L80P	SOAT1_uc010pni.1_Missense_Mutation_p.L15P|SOAT1_uc001gmm.2_Missense_Mutation_p.L22P|SOAT1_uc010pnj.1_5'UTR|SOAT1_uc010pnk.1_Missense_Mutation_p.L15P	NM_003101	NP_003092	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	80					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|skin(1)	2					Ezetimibe(DB00973)|Hesperetin(DB01094)	GTGACCAATCTCATTGAAAAG	0.358													C	179304702	T	C	179304702	3	2	96	1	0	0	0	0	1	0	0	0	14910	1551	54	3	249	3	SOAT1	1	179304702	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	209054	179304702	69945919	83	63045											
GLUL	2752	broad.mit.edu	37	chr1	182355421	182355421	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggaagccgttggaaggccAaccaaaggggtgcccatctg	15	10	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:182355421A>G	uc001gpa.1	-	4	657	c.445T>C	c.(445-447)TGG>CGG	p.W149R	GLUL_uc010pnt.1_5'Flank|GLUL_uc001gpb.1_Missense_Mutation_p.W149R|GLUL_uc001gpc.1_Missense_Mutation_p.W149R|GLUL_uc001gpd.1_Missense_Mutation_p.W149R	NM_001033056	NP_001028228	P15104	GLNA_HUMAN	glutamine synthetase	149					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding				0					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	TTGGAAGGCCAACCAAAGGGG	0.562													G	182355421	A	G	182355421	3	3	96	1	0	0	0	0	1	0	0	0	6478	130	5	3	692	3	GLUL	1	182355421	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3050719	182355421	66895200	84	63046											
RGS16	6004	broad.mit.edu	37	chr1	182572397	182572397	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttactgccccactcgaacTtgccagtactcccagtatcg	7	15	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:182572397T>C	uc001gpl.3	-	2	276	c.122A>G	c.(121-123)AAG>AGG	p.K41R	RGS16_uc010pnv.1_Missense_Mutation_p.K41R	NM_002928	NP_002919	O15492	RGS16_HUMAN	regulator of G-protein signalling 16	41					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(1)	1						CCACTCGAACTTGCCAGTACT	0.512													C	182572397	T	C	182572397	3	2	96	1	0	0	0	0	1	0	0	0	13298	1609	56	3	502	3	RGS16	1	182572397	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	216976	182572397	66678224	85	63047											
DHX9	1660	broad.mit.edu	37	chr1	182829162	182829162	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagttactgcctgtgaagaAatttgaaagtgagattctgg	12	4	1	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:182829162A>C	uc001gpr.2	+	12	1338	c.1175A>C	c.(1174-1176)AAA>ACA	p.K392T	DHX9_uc001gps.2_Missense_Mutation_p.K178T	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	392					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2						CCTGTGAAGAAATTTGAAAGT	0.418													C	182829162	A	C	182829162	3	2	96	1	0	0	0	0	1	0	0	0	4516	14	1	5	1217	5	DHX9	1	182829162	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	256765	182829162	66421459	86	63048											
PTGS2	5743	broad.mit.edu	37	chr1	186643498	186643498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagacttctacagttcagtcGaacgttcttttagtagtact	7	8	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:186643498G>A	uc001gsb.2	-	10	1939	c.1802C>T	c.(1801-1803)TCG>TTG	p.S601L	PTGS2_uc009wyo.2_Missense_Mutation_p.S448L	NM_000963	NP_000954	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 precursor	601					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|central_nervous_system(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	CAGTTCAGTCGAACGTTCTTT	0.313													A	186643498	G	A	186643498	3	1	96	1	0	0	0	0	1	0	0	0	12756	1059	37	1	16	1	PTGS2	1	186643498	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	3814336	186643498	62607123	87	63049											
LHX9	56956	broad.mit.edu	37	chr1	197890706	197890706	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggccctgccttacttcaAcggtacgggcaccgtgcaga	11	15	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:197890706A>C	uc001guk.1	+	3	1087	c.650A>C	c.(649-651)AAC>ACC	p.N217T	LHX9_uc001gui.1_Missense_Mutation_p.N208T|LHX9_uc001guj.1_Missense_Mutation_p.N223T	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	217					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CCTTACTTCAACGGTACGGGC	0.637													C	197890706	A	C	197890706	3	2	96	1	0	0	0	0	1	0	0	0	8777	43	2	5	692	5	LHX9	1	197890706	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	11247208	197890706	51359915	88	63050											
CAMSAP1L1	23271	broad.mit.edu	37	chr1	200822487	200822487	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagaatatatgaggcggaaAcaactgaaactaatggaaga	10	5	0	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:200822487A>C	uc001gvl.2	+	14	3990	c.3720A>C	c.(3718-3720)AAA>AAC	p.K1240N	CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.K1229N|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.K1213N	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	1240						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TGAGGCGGAAACAACTGAAAC	0.368													C	200822487	A	C	200822487	3	2	96	1	0	0	0	0	1	0	0	0	2612	40	2	5	3737	5	CAMSAP1L1	1	200822487	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2931781	200822487	48428134	89	63051											
LAD1	3898	broad.mit.edu	37	chr1	201355652	201355652	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtggccctctttggggcCggcttagcatctgcagttgg	15	11	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:201355652C>T	uc001gwm.2	-	3	1072	c.837G>A	c.(835-837)CCG>CCA	p.P279P	LAD1_uc009wzu.1_Silent_p.P301P	NM_005558	NP_005549	O00515	LAD1_HUMAN	ladinin 1	279						basement membrane	structural molecule activity				0						TCTTTGGGGCCGGCTTAGCAT	0.637													T	201355652	C	T	201355652	2	4	96	1	0	0	0	0	0	0	0	1	8599	639	23	1		1	LAD1	1	201355652	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	533165	201355652	47894969	90	63052											
NAV1	89796	broad.mit.edu	37	chr1	201751840	201751840	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcccctgtcaatcagAcagatcgggaaaaggagaag	11	11	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:201751840A>T	uc001gwu.2	+	6	2547	c.2200A>T	c.(2200-2202)ACA>TCA	p.T734S	NAV1_uc001gwv.1_Missense_Mutation_p.T242S|NAV1_uc001gww.1_Missense_Mutation_p.T343S|NAV1_uc001gwx.2_Missense_Mutation_p.T343S|NAV1_uc001gwy.1_Missense_Mutation_p.T115S	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	734	Potential.				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						TGTCAATCAGACAGATCGGGA	0.557													T	201751840	A	T	201751840	3	4	96	1	0	0	0	0	1	0	0	0	10183	275	10	5	2279	5	NAV1	1	201751840	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	396188	201751840	47498781	91	63053											
LGR6	59352	broad.mit.edu	37	chr1	202287259	202287259	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgattgcaggcgccaacaccTtgactggcatttcctgtggc	11	13	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:202287259T>A	uc001gxu.2	+	18	1828	c.1828T>A	c.(1828-1830)TTG>ATG	p.L610M	LGR6_uc001gxv.2_Missense_Mutation_p.L558M|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.L471M	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	610	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						CGCCAACACCTTGACTGGCAT	0.627													A	202287259	T	A	202287259	3	1	96	1	0	0	0	0	1	0	0	0	8758	1606	56	5	2045	5	LGR6	1	202287259	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	535419	202287259	46963362	92	63054											
PRELP	5549	broad.mit.edu	37	chr1	203452402	203452402	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacgaccaagacccgggacTgggcccgggcgcagacccag	15	15	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:203452402T>C	uc001gzs.2	+	2	290	c.90T>C	c.(88-90)ACT>ACC	p.T30T	PRELP_uc001gzt.2_Silent_p.T30T	NM_002725	NP_002716	P51888	PRELP_HUMAN	proline arginine-rich end leucine-rich repeat	30					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(1)|central_nervous_system(1)|pancreas(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.109)			GACCCGGGACTGGGCCCGGGC	0.652													C	203452402	T	C	203452402	2	2	96	1	0	0	0	0	0	0	0	1	12473	1567	55	3		3	PRELP	1	203452402	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1165143	203452402	45798219	93	63055											
LAX1	54900	broad.mit.edu	37	chr1	203741246	203741246	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcagtactgagagcctcctcTccagaaattctgagagcccg	9	13	3	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:203741246T>A	uc001haa.2	+	4	771	c.361T>A	c.(361-363)TCC>ACC	p.S121T	LAX1_uc010pql.1_Missense_Mutation_p.S105T|LAX1_uc001hab.2_Missense_Mutation_p.S45T	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1 isoform a	121	Cytoplasmic (Potential).				B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)	2	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGCCTCCTCTCCAGAAATTC	0.493													A	203741246	T	A	203741246	3	1	96	1	0	0	0	0	1	0	0	0	8648	1551	54	5	420	5	LAX1	1	203741246	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	288844	203741246	45509375	94	63056											
LRRN2	10446	broad.mit.edu	37	chr1	204587213	204587213	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaggagaaggacagcgagAgccaggatggcaatgagccc	16	10	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:204587213A>G	uc001hbe.1	-	3	2296	c.1908T>C	c.(1906-1908)GCT>GCC	p.A636A	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Silent_p.A636A|LRRN2_uc009xbf.1_Silent_p.A636A|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	636	Helical; (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGACAGCGAGAGCCAGGATGG	0.647													G	204587213	A	G	204587213	2	3	96	1	0	0	0	0	0	0	0	1	9035	291	11	3		3	LRRN2	1	204587213	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	845967	204587213	44663408	95	63057											
CR1	1378	broad.mit.edu	37	chr1	207780607	207780607	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctttaggtttcgactcaTtggttccccatctactactt	6	11	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:207780607T>G	uc001hfy.2	+	28	4612	c.4472T>G	c.(4471-4473)ATT>AGT	p.I1491S	CR1_uc009xcl.1_Missense_Mutation_p.I1041S|CR1_uc001hfx.2_Missense_Mutation_p.I1941S	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1491	Extracellular (Potential).|Sushi 23.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TTTCGACTCATTGGTTCCCCA	0.338													G	207780607	T	G	207780607	3	3	96	1	0	0	0	0	1	0	0	0	3840	1493	52	5	5964	5	CR1	1	207780607	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3193394	207780607	41470014	96	63058											
INTS7	25896	broad.mit.edu	37	chr1	212161319	212161319	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttttaagctgtcataaggAgtctggagggcacactcaca	11	8	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:212161319A>G	uc001hiw.1	-	8	1011	c.906T>C	c.(904-906)ACT>ACC	p.T302T	INTS7_uc009xdb.1_Silent_p.T302T|INTS7_uc001hix.1_Silent_p.T178T|INTS7_uc001hiy.1_Silent_p.T302T|INTS7_uc010pta.1_Silent_p.T253T	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	302					snRNA processing	integrator complex	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TGTCATAAGGAGTCTGGAGGG	0.393													G	212161319	A	G	212161319	2	3	96	1	0	0	0	0	0	0	0	1	7783	291	11	3		3	INTS7	1	212161319	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4380712	212161319	37089302	97	63059											
USH2A	7399	broad.mit.edu	37	chr1	215972273	215972275	+	In_Frame_Del	DEL	CTT	CTT	-													aaggcgattgtacaccactcCttcttctccaccacaacact							TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:215972272_215972274CCTT>C	uc001hku.1	-	49	10320_10322	c.9933_9935AAGG>G	c.(9931-9936)gaagga>gaGa	p.G3312del		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3312					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.E3311D(2)|p.G3312E(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTACACCACTCCTTCTTCTCCAC	0.498										HNSCC(13;0.011)			-	215972275	CTT	-	215972273	7	5	96	1	0	1	0	1	0	0	0	0	17033	690	24	0	5766	0	USH2A	1	215972273	In_Frame_Del	DEL	CTT	TCGA-BR-8589-01A-11D-2394-08	3810954	215972273	33278348	98	63060											
USH2A	7399	broad.mit.edu	37	chr1	216595645	216595645	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatgacctgaaacaagaAgccagagcccaatgaaagaa	8	9	1	6			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:216595645A>C	uc001hku.1	-	2	421	c.34T>G	c.(34-36)TTC>GTC	p.F12V	USH2A_uc001hkv.2_Missense_Mutation_p.F12V	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	12					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAAACAAGAAGCCAGAGCCC	0.423										HNSCC(13;0.011)			C	216595645	A	C	216595645	3	2	96	1	0	0	0	0	1	0	0	0	17033	72	3	5	15872	5	USH2A	1	216595645	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	623372	216595645	32654976	99	63061											
MOSC1	64757	broad.mit.edu	37	chr1	220970082	220970082	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agccctaccgcctggtgcacTtcgagcctcacatgcgaccg	10	17	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:220970082T>G	uc001hms.2	+	3	795	c.547T>G	c.(547-549)TTC>GTC	p.F183V	MOSC1_uc001hmt.2_Missense_Mutation_p.F183V	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	MOCO sulphurase C-terminal domain containing 1	183							molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding				0				GBM - Glioblastoma multiforme(131;0.0358)		CCTGGTGCACTTCGAGCCTCA	0.592													G	220970082	T	G	220970082	3	3	96	1	0	0	0	0	1	0	0	0	9713	1609	56	5	557	5	MOSC1	1	220970082	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4374437	220970082	28280539	100	63062											
MOSC1	64757	broad.mit.edu	37	chr1	220978447	220978447	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaactgaaaagggtgatggcTtgttccaggtaaggtgcttt	14	5	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:220978447T>C	uc001hms.2	+	5	1055	c.807T>C	c.(805-807)GCT>GCC	p.A269A	MOSC1_uc001hmt.2_Silent_p.A286A	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	MOCO sulphurase C-terminal domain containing 1	269	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding				0				GBM - Glioblastoma multiforme(131;0.0358)		GGGTGATGGCTTGTTCCAGGT	0.532													C	220978447	T	C	220978447	2	2	96	1	0	0	0	0	0	0	0	1	9713	1596	56	3		3	MOSC1	1	220978447	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	8365	220978447	28272174	101	63063											
MIA3	375056	broad.mit.edu	37	chr1	222806483	222806483	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacactcctatggatgctatTgatgcaaacaagcaaccaga	8	10	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:222806483T>C	uc001hnl.2	+	6	3378	c.3369T>C	c.(3367-3369)ATT>ATC	p.I1123I	MIA3_uc009xea.1_Silent_p.I959I	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1123	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		TGGATGCTATTGATGCAAACA	0.383													C	222806483	T	C	222806483	2	2	96	1	0	0	0	0	0	0	0	1	9565	1800	63	3		3	MIA3	1	222806483	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1828036	222806483	26444138	102	63064											
LIN9	286826	broad.mit.edu	37	chr1	226455692	226455692	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggatggtatgggttccaAgccctgtcctatcaaaagtt	11	9	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:226455692A>C	uc001hqa.2	-	8	1140	c.830T>G	c.(829-831)CTT>CGT	p.L277R	LIN9_uc001hqb.2_Missense_Mutation_p.L242R|LIN9_uc001hqc.2_Missense_Mutation_p.L209R|LIN9_uc009xel.1_Missense_Mutation_p.L242R	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	lin-9 homolog	261	Sufficient for interaction with RB1.				cell cycle|DNA replication	nucleoplasm					0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		ATGGGTTCCAAGCCCTGTCCT	0.358													C	226455692	A	C	226455692	3	2	96	1	0	0	0	0	1	0	0	0	8813	72	3	5	878	5	LIN9	1	226455692	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3649209	226455692	22794929	103	63065											
URB2	9816	broad.mit.edu	37	chr1	229771360	229771360	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctccccaggttgtttggcTgcttgaagatttcacacctg	9	11	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:229771360T>C	uc001hts.1	+	4	1136	c.1000T>C	c.(1000-1002)TGC>CGC	p.C334R	URB2_uc009xfd.1_Missense_Mutation_p.C334R	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	334						nucleolus				central_nervous_system(2)|ovary(1)	3						GTTGTTTGGCTGCTTGAAGAT	0.488													C	229771360	T	C	229771360	3	2	96	1	0	0	0	0	1	0	0	0	17022	1580	55	3	1010	3	URB2	1	229771360	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3315668	229771360	19479261	104	63066											
URB2	9816	broad.mit.edu	37	chr1	229773272	229773272	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgtatggtagtgatatttTtgaggttgtactgacctcat	10	5	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:229773272T>G	uc001hts.1	+	4	3048	c.2912T>G	c.(2911-2913)TTT>TGT	p.F971C	URB2_uc009xfd.1_Missense_Mutation_p.F971C	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	971						nucleolus				central_nervous_system(2)|ovary(1)	3						AGTGATATTTTTGAGGTTGTA	0.443													G	229773272	T	G	229773272	3	3	96	1	0	0	0	0	1	0	0	0	17022	1841	64	5	2922	5	URB2	1	229773272	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1912	229773272	19477349	105	63067											
PGBD5	79605	broad.mit.edu	37	chr1	230486768	230486768	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaatttccgctttttcctcTttcgcagctcccgctctgtg	7	14	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:230486768T>C	uc010pwb.1	-	3	623	c.623A>G	c.(622-624)AAG>AGG	p.K208R	PGBD5_uc001htv.2_Missense_Mutation_p.K307R	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	208						integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CTTTTTCCTCTTTCGCAGCTC	0.557													C	230486768	T	C	230486768	3	2	96	1	0	0	0	0	1	0	0	0	11784	1609	56	3	764	3	PGBD5	1	230486768	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	713496	230486768	18763853	106	63068											
SIPA1L2	57568	broad.mit.edu	37	chr1	232581415	232581415	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaggggctgcagggcaggAgtgggcacccggtgccacgt	20	10	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:232581415A>G	uc001hvg.2	-	9	3371	c.3213T>C	c.(3211-3213)ACT>ACC	p.T1071T	SIPA1L2_uc001hvf.2_Silent_p.T145T	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1071					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCAGGGCAGGAGTGGGCACCC	0.652													G	232581415	A	G	232581415	2	3	96	1	0	0	0	0	0	0	0	1	14330	291	11	3		3	SIPA1L2	1	232581415	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2094647	232581415	16669206	107	63069											
PCNXL2	80003	broad.mit.edu	37	chr1	233136103	233136103	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagcatgatgaccttgtacTcgtcggcaccctcgtccacc	10	15	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:233136103T>C	uc001hvl.2	-	30	5511	c.5276A>G	c.(5275-5277)GAG>GGG	p.E1759G	PCNXL2_uc001hvk.1_Missense_Mutation_p.E411G|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1759						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				GACCTTGTACTCGTCGGCACC	0.612													C	233136103	T	C	233136103	3	2	96	1	0	0	0	0	1	0	0	0	11592	1551	54	3	1157	3	PCNXL2	1	233136103	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	554688	233136103	16114518	108	63070											
SLC35F3	148641	broad.mit.edu	37	chr1	234452387	234452387	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgctggcattgtgatgAtgacctacgctgatggcttc	11	11	0	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:234452387A>C	uc001hwa.1	+	4	889	c.661A>C	c.(661-663)ATG>CTG	p.M221L	SLC35F3_uc001hvy.1_Missense_Mutation_p.M290L	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	221	Helical; (Potential).				transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CATTGTGATGATGACCTACGC	0.592													C	234452387	A	C	234452387	3	2	96	1	0	0	0	0	1	0	0	0	14590	333	12	5	886	5	SLC35F3	1	234452387	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1316284	234452387	14798234	109	63071											
TARBP1	6894	broad.mit.edu	37	chr1	234541725	234541725	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcaaattcttcaacacTtaacactttacacacagtcc	3	13	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:234541725T>G	uc001hwd.2	-	24	3913	c.3913A>C	c.(3913-3915)AGT>CGT	p.S1305R		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	1305					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCTTCAACACTTAACACTTTA	0.443													G	234541725	T	G	234541725	3	3	96	1	0	0	0	0	1	0	0	0	15552	1609	56	5	980	5	TARBP1	1	234541725	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	89338	234541725	14708896	110	63072											
LYST	1130	broad.mit.edu	37	chr1	235884124	235884124	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccagtataccataaatTtgtcagagcggtgatgttac	9	8	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:235884124T>A	uc001hxj.2	-	40	9572	c.9397A>T	c.(9397-9399)AAT>TAT	p.N3133Y	LYST_uc001hxi.2_Missense_Mutation_p.N357Y	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3133	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TACCATAAATTTGTCAGAGCG	0.373									Chediak-Higashi_syndrome				A	235884124	T	A	235884124	3	1	96	1	0	0	0	0	1	0	0	0	9128	1841	64	5	2064	5	LYST	1	235884124	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1342399	235884124	13366497	111	63073											
LYST	1130	broad.mit.edu	37	chr1	235993568	235993568	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggtaagtaatagaaatccTcgaccatggacaaggtactg	10	7	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:235993568T>G	uc001hxj.2	-	3	325	c.150A>C	c.(148-150)CGA>CGC	p.R50R	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.R50R|LYST_uc001hxm.2_RNA|LYST_uc001hxn.1_Silent_p.R50R	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	50					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATAGAAATCCTCGACCATGGA	0.418									Chediak-Higashi_syndrome				G	235993568	T	G	235993568	2	3	96	1	0	0	0	0	0	0	0	1	9128	1538	54	5		5	LYST	1	235993568	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	109444	235993568	13257053	112	63074											
ACTN2	88	broad.mit.edu	37	chr1	236906233	236906233	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggctggagcaggctgAgaagggttacgaggagtggt	20	5	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:236906233A>G	uc001hyf.2	+	11	1349	c.1145A>G	c.(1144-1146)GAG>GGG	p.E382G	ACTN2_uc001hyg.2_Missense_Mutation_p.E174G|ACTN2_uc009xgi.1_Missense_Mutation_p.E382G|ACTN2_uc010pxu.1_Missense_Mutation_p.E71G|ACTN2_uc001hyh.2_Missense_Mutation_p.E70G	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	382	Spectrin 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGCAGGCTGAGAAGGGTTAC	0.542													G	236906233	A	G	236906233	3	3	96	1	0	0	0	0	1	0	0	0	205	304	11	3	1187	3	ACTN2	1	236906233	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	912665	236906233	12344388	113	63075											
ACTN2	88	broad.mit.edu	37	chr1	236914899	236914899	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acaacatcagaatcagctcaAgcaacccgtacagcactgtc	6	14	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:236914899A>T	uc001hyf.2	+	15	1990	c.1786A>T	c.(1786-1788)AGC>TGC	p.S596C	ACTN2_uc001hyg.2_Missense_Mutation_p.S388C|ACTN2_uc009xgi.1_Missense_Mutation_p.S596C|ACTN2_uc010pxu.1_Missense_Mutation_p.S285C|ACTN2_uc001hyh.2_Missense_Mutation_p.S284C	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	596	Spectrin 3.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AATCAGCTCAAGCAACCCGTA	0.602													T	236914899	A	T	236914899	3	4	96	1	0	0	0	0	1	0	0	0	205	72	3	5	1844	5	ACTN2	1	236914899	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	8666	236914899	12335722	114	63076											
RYR2	6262	broad.mit.edu	37	chr1	237754244	237754244	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agctactaaaccagagtttaAcaaccacaaagattatgccc	5	11	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:237754244A>T	uc001hyl.1	+	31	4232	c.4112A>T	c.(4111-4113)AAC>ATC	p.N1371I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1371	Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCAGAGTTTAACAACCACAAA	0.403													T	237754244	A	T	237754244	3	4	96	1	0	0	0	0	1	0	0	0	13769	43	2	5	4234	5	RYR2	1	237754244	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	839345	237754244	11496377	115	63077											
RYR2	6262	broad.mit.edu	37	chr1	237777619	237777619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtacattgtccccatgacgGaggagacgaagagcatcacc	11	11	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:237777619G>A	uc001hyl.1	+	37	5311	c.5191G>A	c.(5191-5193)GAG>AAG	p.E1731K		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1731	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCCCATGACGGAGGAGACGAA	0.552													A	237777619	G	A	237777619	3	1	96	1	0	0	0	0	1	0	0	0	13769	1175	41	4	5337	4	RYR2	1	237777619	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	23375	237777619	11473002	116	63078											
RYR2	6262	broad.mit.edu	37	chr1	237806735	237806735	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcatcgcttttcagatgccaAcaatagccaaaggtaaggcc	9	11	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:237806735A>T	uc001hyl.1	+	48	7450	c.7330A>T	c.(7330-7332)ACA>TCA	p.T2444S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2444	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAGATGCCAACAATAGCCAA	0.448													T	237806735	A	T	237806735	3	4	96	1	0	0	0	0	1	0	0	0	13769	43	2	5	7520	5	RYR2	1	237806735	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	29116	237806735	11443886	117	63079											
CHRM3	1131	broad.mit.edu	37	chr1	240071166	240071166	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcgatgggccttagggaacTtggcctgtgacctctggctt	13	10	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:240071166T>A	uc001hyp.2	+	5	1194	c.415T>A	c.(415-417)TTG>ATG	p.L139M		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	139	Extracellular (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CTTAGGGAACTTGGCCTGTGA	0.473													A	240071166	T	A	240071166	3	1	96	1	0	0	0	0	1	0	0	0	3378	1606	56	5	417	5	CHRM3	1	240071166	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2264431	240071166	9179455	118	63080											
ADSS	159	broad.mit.edu	37	chr1	244587330	244587330	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcagctttggacgaataaActgggccaatgccctttttt	10	9	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:244587330A>C	uc001iaj.2	-	6	800	c.506T>G	c.(505-507)GTT>GGT	p.V169G	ADSS_uc009xgr.1_RNA	NM_001126	NP_001117	P30520	PURA2_HUMAN	adenylosuccinate synthase	169					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(2)|kidney(1)	3	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	GGACGAATAAACTGGGCCAAT	0.423													C	244587330	A	C	244587330	3	2	96	1	0	0	0	0	1	0	0	0	347	43	2	5	896	5	ADSS	1	244587330	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4516164	244587330	4663291	119	63081											
C1orf101	257044	broad.mit.edu	37	chr1	244724442	244724442	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcattattcatgaagtttTcataggtaaggcattctcag	8	7	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:244724442T>G	uc001iam.2	+	10	1561	c.1502T>G	c.(1501-1503)TTC>TGC	p.F501C	C1orf101_uc001iak.1_Missense_Mutation_p.F55C|C1orf101_uc001ial.2_Missense_Mutation_p.F501C|C1orf101_uc010pym.1_Missense_Mutation_p.F350C|C1orf101_uc010pyn.1_Missense_Mutation_p.F434C	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	hypothetical protein LOC257044 isoform 1	501	Extracellular (Potential).					integral to membrane				ovary(1)|breast(1)	2	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			CATGAAGTTTTCATAGGTAAG	0.338													G	244724442	T	G	244724442	3	3	96	1	0	0	0	0	1	0	0	0	1976	1783	62	5	1540	5	C1orf101	1	244724442	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	137112	244724442	4526179	120	63082											
NLRP3	114548	broad.mit.edu	37	chr1	247588114	247588114	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagccccggggagggAgccaggagcacggcctctgc	17	14	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:247588114A>G	uc001icr.2	+	5	1507	c.1369A>G	c.(1369-1371)AGC>GGC	p.S457G	NLRP3_uc001ics.2_Missense_Mutation_p.S457G|NLRP3_uc001icu.2_Missense_Mutation_p.S457G|NLRP3_uc001icw.2_Missense_Mutation_p.S457G|NLRP3_uc001icv.2_Missense_Mutation_p.S457G|NLRP3_uc010pyw.1_Missense_Mutation_p.S455G|NLRP3_uc001ict.1_Missense_Mutation_p.S455G	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	457	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCGGGGAGGGAGCCAGGAGCA	0.597													G	247588114	A	G	247588114	3	3	96	1	0	0	0	0	1	0	0	0	10478	304	11	3	1379	3	NLRP3	1	247588114	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2863672	247588114	1662507	121	63083											
OR11L1	391189	broad.mit.edu	37	chr1	248004777	248004777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaccaccaccaacctggcaCagagcccacgatgcatgagg	10	15	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:248004777C>T	uc001idn.1	-	1	422	c.422G>A	c.(421-423)TGT>TAT	p.C141Y		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAACCTGGCACAGAGCCCACG	0.592													T	248004777	C	T	248004777	3	4	96	1	0	0	0	0	1	0	0	0	10930	478	17	4	550	4	OR11L1	1	248004777	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	416663	248004777	1245844	122	63084											
OR2M5	127059	broad.mit.edu	37	chr1	248308778	248308778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctatgtatcactgcttggctCcgaatgctttctgttggctg	10	10	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:248308778C>T	uc010pze.1	+	1	329	c.329C>T	c.(328-330)TCC>TTC	p.S110F		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CTGCTTGGCTCCGAATGCTTT	0.443													T	248308778	C	T	248308778	3	4	96	1	0	0	0	0	1	0	0	0	11013	855	30	4	331	4	OR2M5	1	248308778	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	304001	248308778	941843	123	63085											
OR2M4	26245	broad.mit.edu	37	chr1	248402855	248402855	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgtggtaatgctaatcTttccagtttcagttatcata	8	6	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:248402855T>C	uc010pzh.1	+	1	625	c.625T>C	c.(625-627)TTT>CTT	p.F209L		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AATGCTAATCTTTCCAGTTTC	0.448													C	248402855	T	C	248402855	3	2	96	1	0	0	0	0	1	0	0	0	11012	1609	56	3	627	3	OR2M4	1	248402855	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	94077	248402855	847766	124	63086											
OR2G6	391211	broad.mit.edu	37	chr1	248685651	248685651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcagctgcgggccgccAaaaggcctttgggacctgtt	12	11	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr1:248685651A>G	uc001ien.1	+	1	704	c.704A>G	c.(703-705)CAA>CGA	p.Q235R		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCGGGCCGCCAAAAGGCCTTT	0.463													G	248685651	A	G	248685651	3	3	96	1	0	0	0	0	1	0	0	0	11000	130	5	3	706	3	OR2G6	1	248685651	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	282796	248685651	564970	125	63087											
ASAP2	8853	broad.mit.edu	37	chr2	9498920	9498920	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaacctgggcatcctgAcctgcatcgagtgttccgga	10	15	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:9498920A>T	uc002qzh.2	+	15	1703	c.1363A>T	c.(1363-1365)ACC>TCC	p.T455S	ASAP2_uc002qzi.2_Missense_Mutation_p.T455S	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	455	Arf-GAP.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						GGGCATCCTGACCTGCATCGA	0.512													T	9498920	A	T	9498920	3	4	96	1	0	0	0	0	1	0	0	0	1011	275	10	5	1421	5	ASAP2	2	9498920	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08		9498920	233700453	126	63088											
RRM2	6241	broad.mit.edu	37	chr2	10269377	10269377	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggttttcagagtagagaAcccatttgactttatggaga	10	6	2	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:10269377A>C	uc002rah.2	+	10	1225	c.1034A>C	c.(1033-1035)AAC>ACC	p.N345T		NM_001034	NP_001025	P31350	RIR2_HUMAN	ribonucleotide reductase M2 polypeptide isoform	345					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		AGAGTAGAGAACCCATTTGAC	0.388													C	10269377	A	C	10269377	3	2	96	1	0	0	0	0	1	0	0	0	13682	43	2	5	1252	5	RRM2	2	10269377	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	770457	10269377	232929996	127	63089											
NBAS	51594	broad.mit.edu	37	chr2	15607836	15607836	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttgtctcttcttgagctccTtttcctttttattcttggca	5	11	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:15607836T>A	uc002rcc.1	-	18	1996	c.1970A>T	c.(1969-1971)AAG>ATG	p.K657M	NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	657										ovary(2)|liver(1)|skin(1)	4						CTTGAGCTCCTTTTCCTTTTT	0.343													A	15607836	T	A	15607836	3	1	96	1	0	0	0	0	1	0	0	0	10186	1609	56	5	5285	5	NBAS	2	15607836	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5338459	15607836	227591537	128	63090											
PUM2	23369	broad.mit.edu	37	chr2	20508339	20508339	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaggcttgacgacttccaggAgtacgactacataaagaaaa	10	8	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:20508339A>T	uc002rds.1	-	5	548	c.525T>A	c.(523-525)ACT>ACA	p.T175T	PUM2_uc002rdt.1_Silent_p.T175T|PUM2_uc002rdr.2_Silent_p.T114T|PUM2_uc010yjy.1_Silent_p.T175T|PUM2_uc002rdu.1_Silent_p.T175T|PUM2_uc010yjz.1_Silent_p.T114T	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	175	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACTTCCAGGAGTACGACTAC	0.398													T	20508339	A	T	20508339	2	4	96	1	0	0	0	0	0	0	0	1	12826	291	11	5		5	PUM2	2	20508339	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4900503	20508339	222691034	129	63091											
APOB	338	broad.mit.edu	37	chr2	21228452	21228452	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtatttctctgaagtcaAgtttgcacgatggaacctga	9	7	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:21228452A>C	uc002red.2	-	26	11416	c.11288T>G	c.(11287-11289)CTT>CGT	p.L3763R		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3763					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTGAAGTCAAGTTTGCACGA	0.403													C	21228452	A	C	21228452	3	2	96	1	0	0	0	0	1	0	0	0	785	72	3	5	2419	5	APOB	2	21228452	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	720113	21228452	221970921	130	63092											
APOB	338	broad.mit.edu	37	chr2	21235329	21235329	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttctttttggagtccaAatgaactgaagcagacatct	8	8	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:21235329A>C	uc002red.2	-	26	4539	c.4411T>G	c.(4411-4413)TTG>GTG	p.L1471V		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1471					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGGAGTCCAAATGAACTGAA	0.413													C	21235329	A	C	21235329	3	2	96	1	0	0	0	0	1	0	0	0	785	11	1	5	9296	5	APOB	2	21235329	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	6877	21235329	221964044	131	63093											
ATAD2B	54454	broad.mit.edu	37	chr2	24118816	24118816	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagatacgtggctatcacTtaaactaccatcaacttcaa	6	10	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:24118816T>G	uc002rek.3	-	2	535	c.241A>C	c.(241-243)AGT>CGT	p.S81R	ATAD2B_uc010yki.1_RNA|ATAD2B_uc010exx.1_Missense_Mutation_p.S81R	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	81							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCTATCACTTAAACTACCA	0.328													G	24118816	T	G	24118816	3	3	96	1	0	0	0	0	1	0	0	0	1072	1609	56	5	4243	5	ATAD2B	2	24118816	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2883487	24118816	219080557	132	63094											
C2orf39	92749	broad.mit.edu	37	chr2	26647191	26647191	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccaggacaaattcgatgaaAtcacctcaaagtgggaagag	11	8	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:26647191A>T	uc002rhg.2	+	4	483	c.409A>T	c.(409-411)ATC>TTC	p.I137F	C2orf39_uc010eym.1_Intron	NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	137	Potential.										0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCGATGAAATCACCTCAAA	0.488													T	26647191	A	T	26647191	3	4	96	1	0	0	0	0	1	0	0	0	2164	101	4	5	423	5	C2orf39	2	26647191	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2528375	26647191	216552182	133	63095											
OTOF	9381	broad.mit.edu	37	chr2	26697508	26697508	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccatcttcaccaggggtTtggcgaaggtccggcccatg	13	13	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:26697508T>G	uc002rhk.2	-	26	3288	c.3161A>C	c.(3160-3162)AAA>ACA	p.K1054T	OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Missense_Mutation_p.K307T|OTOF_uc002rhi.2_Missense_Mutation_p.K364T|OTOF_uc002rhj.2_Missense_Mutation_p.K307T	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1054	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCAGGGGTTTGGCGAAGGT	0.527													G	26697508	T	G	26697508	3	3	96	1	0	0	0	0	1	0	0	0	11303	1841	64	5	3101	5	OTOF	2	26697508	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	50317	26697508	216501865	134	63096											
DPYSL5	56896	broad.mit.edu	37	chr2	27165557	27165557	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgccgagggcaccggcaAgttctgtcccctgaggtcct	14	14	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:27165557A>C	uc002rhu.3	+	11	1537	c.1379A>C	c.(1378-1380)AAG>ACG	p.K460T	DPYSL5_uc002rhv.3_Missense_Mutation_p.K460T	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	460					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCACCGGCAAGTTCTGTCCC	0.617											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	27165557	A	C	27165557	3	2	96	1	0	0	0	0	1	0	0	0	4750	72	3	5	1417	5	DPYSL5	2	27165557	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	468049	27165557	216033816	135	63097											
C2orf16	84226	broad.mit.edu	37	chr2	27804228	27804228	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgcagtccctctaggaaaAaccattccagtccttctgag	7	13	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:27804228A>C	uc002rkz.3	+	1	4840	c.4789A>C	c.(4789-4791)AAC>CAC	p.N1597H	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1597	1.|27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					CTCTAGGAAAAACCATTCCAG	0.552													C	27804228	A	C	27804228	3	2	96	1	0	0	0	0	1	0	0	0	2157	14	1	5	4791	5	C2orf16	2	27804228	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	638671	27804228	215395145	136	63098											
C2orf71	388939	broad.mit.edu	37	chr2	29296021	29296021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggtgcaaggtcccagctGgtttgcttgcccagcttgtc	12	12	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:29296021G>A	uc002rmt.1	-	1	1107	c.1107C>T	c.(1105-1107)ACC>ACT	p.T369T		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	369					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						GGTCCCAGCTGGTTTGCTTGC	0.592													A	29296021	G	A	29296021	2	1	96	1	0	0	0	0	0	0	0	1	2191	1335	47	4		4	C2orf71	2	29296021	Silent	SNP	G	TCGA-BR-8589-01A-11D-2394-08	1491793	29296021	213903352	137	63099											
C2orf71	388939	broad.mit.edu	37	chr2	29296170	29296170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagagccctcaggaggcGttcatccacattcctttttg	8	14	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:29296170G>A	uc002rmt.1	-	1	958	c.958C>T	c.(958-960)CGC>TGC	p.R320C		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	320			R -> C.		response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						CTCAGGAGGCGTTCATCCACA	0.597													A	29296170	G	A	29296170	3	1	96	1	0	0	0	0	1	0	0	0	2191	1145	40	1	2916	1	C2orf71	2	29296170	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	149	29296170	213903203	138	63100											
EHD3	30845	broad.mit.edu	37	chr2	31483561	31483561	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatcgagacgcagcagctgAtgcgggtgtacggggccctc	16	11	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:31483561A>C	uc002rnu.2	+	4	1296	c.688A>C	c.(688-690)ATG>CTG	p.M230L	EHD3_uc010ymt.1_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	230					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)					GCAGCAGCTGATGCGGGTGTA	0.572													C	31483561	A	C	31483561	3	2	96	1	0	0	0	0	1	0	0	0	4979	333	12	5	702	5	EHD3	2	31483561	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2187391	31483561	211715812	139	63101											
BIRC6	57448	broad.mit.edu	37	chr2	32828139	32828139	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggaatcctcagacctcaAgctttttgcaagtaaacaaa	7	9	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:32828139A>C	uc010ezu.2	+	71	14193	c.14059A>C	c.(14059-14061)AGC>CGC	p.S4687R		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	4687	Ubiquitin-conjugating.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TCAGACCTCAAGCTTTTTGCA	0.318													C	32828139	A	C	32828139	3	2	96	1	0	0	0	0	1	0	0	0	1438	72	3	5	14341	5	BIRC6	2	32828139	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1344578	32828139	210371234	140	63102											
SOS1	6654	broad.mit.edu	37	chr2	39251221	39251221	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacattaagcaaagctgTtattgcttgttttaaacatt	6	6	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:39251221T>A	uc002rrk.3	-	9	1173	c.1132A>T	c.(1132-1134)ACA>TCA	p.T378S	SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_5'UTR|SOS1_uc002rrl.2_Missense_Mutation_p.T110S	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	378	DH.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				AGCAAAGCTGTTATTGCTTGT	0.303									Noonan_syndrome				A	39251221	T	A	39251221	3	1	96	1	0	0	0	0	1	0	0	0	14936	1725	60	5	2929	5	SOS1	2	39251221	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	6423082	39251221	203948152	141	63103											
PLEKHH2	130271	broad.mit.edu	37	chr2	43991482	43991482	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaccaacagagaaattacTttttgccatggcaaaaccca	5	11	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:43991482T>G	uc010yny.1	+	29	4357	c.4274T>G	c.(4273-4275)CTT>CGT	p.L1425R		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	1425	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GAGAAATTACTTTTTGCCATG	0.378													G	43991482	T	G	43991482	3	3	96	1	0	0	0	0	1	0	0	0	12077	1609	56	5	4384	5	PLEKHH2	2	43991482	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4740261	43991482	199207891	142	63104											
PREPL	9581	broad.mit.edu	37	chr2	44571048	44571048	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagggctggtctaacttaAgttcctccaaattgaataaa	8	7	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:44571048A>C	uc002ruf.2	-	4	487	c.452T>G	c.(451-453)CTT>CGT	p.L151R	PREPL_uc002rug.2_Missense_Mutation_p.L151R|PREPL_uc002ruh.2_Missense_Mutation_p.L151R|PREPL_uc010fax.2_Missense_Mutation_p.L151R|PREPL_uc002rui.3_Missense_Mutation_p.L62R|PREPL_uc002ruj.1_Missense_Mutation_p.L62R|PREPL_uc002ruk.1_Missense_Mutation_p.L151R	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like isoform C	151					proteolysis	cytosol	serine-type endopeptidase activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GTCTAACTTAAGTTCCTCCAA	0.323													C	44571048	A	C	44571048	3	2	96	1	0	0	0	0	1	0	0	0	12475	72	3	5	1775	5	PREPL	2	44571048	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	579566	44571048	198628325	143	63105											
SOCS5	9655	broad.mit.edu	37	chr2	46985924	46985924	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatcaaaattgtgccacagaAatccctcaaattgttgaaat	5	8	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:46985924A>T	uc002rvf.2	+	2	419	c.255A>T	c.(253-255)GAA>GAT	p.E85D	SOCS5_uc010yoe.1_Missense_Mutation_p.E54D|SOCS5_uc002rvg.2_Missense_Mutation_p.E85D	NM_014011	NP_054730	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	85					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					ovary(1)|lung(1)|central_nervous_system(1)	3		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GTGCCACAGAAATCCCTCAAA	0.403													T	46985924	A	T	46985924	3	4	96	1	0	0	0	0	1	0	0	0	14917	11	1	5	257	5	SOCS5	2	46985924	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2414876	46985924	196213449	144	63106											
ACYP2	98	broad.mit.edu	37	chr2	54531856	54531856	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaaggttggaagccctAgttctcgcattgaccgcaca	11	11	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:54531856A>G	uc002rxq.3	+	4	643	c.217A>G	c.(217-219)AGT>GGT	p.S73G		NM_138448	NP_612457	P14621	ACYP2_HUMAN	acylphosphatase 2	73	Acylphosphatase-like.				phosphate metabolic process		acylphosphatase activity				0						TGGAAGCCCTAGTTCTCGCAT	0.328													G	54531856	A	G	54531856	3	3	96	1	0	0	0	0	1	0	0	0	229	420	15	3	231	3	ACYP2	2	54531856	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	7545932	54531856	188667517	145	63107											
MTIF2	4528	broad.mit.edu	37	chr2	55476576	55476576	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaacatcacctccataatcTtcacataccacatcgtaagc	3	14	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:55476576T>G	uc002ryn.2	-	10	1673	c.936A>C	c.(934-936)GAA>GAC	p.E312D	MTIF2_uc010yox.1_5'UTR|MTIF2_uc002ryo.2_Missense_Mutation_p.E312D	NM_001005369	NP_001005369	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	312	G-domain.				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			ovary(1)	1						CTCCATAATCTTCACATACCA	0.438													G	55476576	T	G	55476576	3	3	96	1	0	0	0	0	1	0	0	0	9934	1606	56	5	1279	5	MTIF2	2	55476576	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	944720	55476576	187722797	146	63108											
USP34	9736	broad.mit.edu	37	chr2	61508340	61508340	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagccctgacagggataacTtatagagaccactgcatgat	9	11	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:61508340T>G	uc002sbe.2	-	38	5058	c.5036A>C	c.(5035-5037)AAG>ACG	p.K1679T	USP34_uc002sbf.2_5'Flank	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	1679					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			CAGGGATAACTTATAGAGACC	0.393													G	61508340	T	G	61508340	3	3	96	1	0	0	0	0	1	0	0	0	17062	1609	56	5	5776	5	USP34	2	61508340	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	6031764	61508340	181691033	147	63109											
AFTPH	54812	broad.mit.edu	37	chr2	64778718	64778718	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttggtgggttttcagaagTtagcccttctggtgtagggt	14	5	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:64778718T>G	uc002sdc.2	+	1	142	c.110T>G	c.(109-111)GTT>GGT	p.V37G	AFTPH_uc002scz.2_Missense_Mutation_p.V37G|AFTPH_uc002sda.2_Missense_Mutation_p.V37G|AFTPH_uc002sdb.2_Missense_Mutation_p.V37G	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	37					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						TTTTCAGAAGTTAGCCCTTCT	0.413													G	64778718	T	G	64778718	3	3	96	1	0	0	0	0	1	0	0	0	364	1725	60	5	112	5	AFTPH	2	64778718	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3270378	64778718	178420655	148	63110											
ALMS1	7840	broad.mit.edu	37	chr2	73650099	73650099	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaactaagttttgcacctcTgaggtaggatgatttatttg	10	5	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:73650099T>A	uc002sje.1	+	5	875	c.764T>A	c.(763-765)CTG>CAG	p.L255Q	ALMS1_uc002sjf.1_Missense_Mutation_p.L212Q	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	254					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						TTTGCACCTCTGAGGTAGGAT	0.393													A	73650099	T	A	73650099	3	1	96	1	0	0	0	0	1	0	0	0	535	1580	55	5	775	5	ALMS1	2	73650099	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	8871381	73650099	169549274	149	63111											
HTRA2	27429	broad.mit.edu	37	chr2	74757775	74757775	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggccgcgaggtccctatcTcgaacggctcaggattcgtg	14	12	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:74757775T>C	uc002smi.1	+	2	1140	c.538T>C	c.(538-540)TCG>CCG	p.S180P	AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Missense_Mutation_p.S180P|HTRA2_uc002smk.1_Missense_Mutation_p.S180P|HTRA2_uc002sml.1_Missense_Mutation_p.S180P|HTRA2_uc002smm.1_5'UTR|HTRA2_uc002smn.1_5'UTR|HTRA2_uc010ffl.2_5'UTR	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	180	Serine protease.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1						GGTCCCTATCTCGAACGGCTC	0.617													C	74757775	T	C	74757775	3	2	96	1	0	0	0	0	1	0	0	0	7454	1551	54	3	544	3	HTRA2	2	74757775	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1107676	74757775	168441598	150	63112											
SEMA4F	10505	broad.mit.edu	37	chr2	74902419	74902419	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agctgatggccaccccctgcTggtcactacagatacagcct	9	15	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:74902419T>A	uc002sna.1	+	10	1391	c.1280T>A	c.(1279-1281)CTG>CAG	p.L427Q	SEMA4F_uc010ffq.1_Missense_Mutation_p.L394Q|SEMA4F_uc010ffr.1_Missense_Mutation_p.L39Q|SEMA4F_uc002snb.1_Missense_Mutation_p.L39Q|SEMA4F_uc002snc.1_Missense_Mutation_p.L272Q	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	427	Sema.|Extracellular (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4						CACCCCCTGCTGGTCACTACA	0.562											OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	74902419	T	A	74902419	3	1	96	1	0	0	0	0	1	0	0	0	14035	1580	55	5	1318	5	SEMA4F	2	74902419	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	144644	74902419	168296954	151	63113											
CNNM4	26504	broad.mit.edu	37	chr2	97474441	97474441	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggccagtacatctctgacTtcagcgtccgggcactcgtg	12	13	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:97474441T>G	uc002swx.2	+	6	2190	c.2092T>G	c.(2092-2094)TTC>GTC	p.F698V	CNNM4_uc010yuy.1_Missense_Mutation_p.F185V	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	cyclin M4	698					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|ovary(1)	3						CATCTCTGACTTCAGCGTCCG	0.562													G	97474441	T	G	97474441	3	3	96	1	0	0	0	0	1	0	0	0	3615	1609	56	5	2114	5	CNNM4	2	97474441	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	22572022	97474441	145724932	152	63114											
VWA3B	200403	broad.mit.edu	37	chr2	98809455	98809455	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acacgtctcactcaatgaagAgcaaactggacttggtgaag	10	9	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:98809455A>T	uc002syo.2	+	11	1825	c.1561A>T	c.(1561-1563)AGC>TGC	p.S521C	VWA3B_uc010yvh.1_Missense_Mutation_p.S371C|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.S40C|VWA3B_uc002sym.2_Missense_Mutation_p.S521C|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.S178C|VWA3B_uc002syp.1_5'UTR	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	521	VWFA.									ovary(3)|large_intestine(2)|skin(1)	6						CTCAATGAAGAGCAAACTGGA	0.423													T	98809455	A	T	98809455	3	4	96	1	0	0	0	0	1	0	0	0	17238	304	11	5	1599	5	VWA3B	2	98809455	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1335014	98809455	144389918	153	63115											
TSGA10	80705	broad.mit.edu	37	chr2	99681472	99681472	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctgcctcagcagtgataAgttccagtttgagggtattg	11	9	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:99681472A>C	uc002szg.3	-	14	1962	c.1334T>G	c.(1333-1335)CTT>CGT	p.L445R	TSGA10_uc002szh.3_Missense_Mutation_p.L445R|TSGA10_uc002szi.3_Missense_Mutation_p.L445R|TSGA10_uc010fin.1_Missense_Mutation_p.L445R	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	445					spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2						AGCAGTGATAAGTTCCAGTTT	0.383													C	99681472	A	C	99681472	3	2	96	1	0	0	0	0	1	0	0	0	16614	72	3	5	786	5	TSGA10	2	99681472	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	872017	99681472	143517901	154	63116											
EIF5B	9669	broad.mit.edu	37	chr2	100015285	100015285	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgcaaaaaaaggacaagaAgtttgtgtaaaaatagaacc	9	4	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:100015285A>C	uc002tab.2	+	23	3652	c.3468A>C	c.(3466-3468)GAA>GAC	p.E1156D	EIF5B_uc010yvq.1_Missense_Mutation_p.E138D	NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1156					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						AAGGACAAGAAGTTTGTGTAA	0.308													C	100015285	A	C	100015285	3	2	96	1	0	0	0	0	1	0	0	0	5044	69	3	5	3558	5	EIF5B	2	100015285	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	333813	100015285	143184088	155	63117											
AFF3	3899	broad.mit.edu	37	chr2	100217911	100217911	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttacctcggggctggagaAgtgggggggcttgctgccct	18	10	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:100217911A>C	uc002tag.2	-	13	1593	c.1357T>G	c.(1357-1359)TTC>GTC	p.F453V	AFF3_uc002taf.2_Missense_Mutation_p.F478V|AFF3_uc010fiq.1_Missense_Mutation_p.F453V|AFF3_uc010yvr.1_Missense_Mutation_p.F606V|AFF3_uc002tah.1_Missense_Mutation_p.F478V	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	453					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						GGGCTGGAGAAGTGGGGGGGC	0.577													C	100217911	A	C	100217911	3	2	96	1	0	0	0	0	1	0	0	0	358	72	3	5	2371	5	AFF3	2	100217911	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	202626	100217911	142981462	156	63118											
GCC2	9648	broad.mit.edu	37	chr2	109103051	109103051	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagcaccagcgtacgctaAgtgcataccagcagagagtg	11	11	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:109103051A>C	uc002tec.2	+	16	4031	c.3877A>C	c.(3877-3879)AGT>CGT	p.S1293R	GCC2_uc002ted.2_Missense_Mutation_p.S1192R	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	1293	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						GCGTACGCTAAGTGCATACCA	0.507													C	109103051	A	C	109103051	3	2	96	1	0	0	0	0	1	0	0	0	6286	72	3	5	3939	5	GCC2	2	109103051	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	8885140	109103051	134096322	157	63119											
GCC2	9648	broad.mit.edu	37	chr2	109116111	109116111	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgctgcagttcattttcTtgaaaccaggtagtgaaaga	9	7	3	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:109116111T>C	uc002tec.2	+	22	5039	c.4885T>C	c.(4885-4887)TTG>CTG	p.L1629L	GCC2_uc002ted.2_Silent_p.L1528L	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	1629	Mediates interaction with RAB9A.|GRIP.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						GTTCATTTTCTTGAAACCAGG	0.423													C	109116111	T	C	109116111	2	2	96	1	0	0	0	0	0	0	0	1	6286	1606	56	3		3	GCC2	2	109116111	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	13060	109116111	134083262	158	63120											
EDAR	10913	broad.mit.edu	37	chr2	109546637	109546637	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagccccgtagtctggTtgtagtactcgttctcaccg	11	13	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:109546637T>G	uc002teq.3	-	3	544	c.113A>C	c.(112-114)AAC>ACC	p.N38T	EDAR_uc010fjn.2_Missense_Mutation_p.N38T|EDAR_uc010yws.1_Missense_Mutation_p.N38T	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	38	TNFR-Cys 1.|Extracellular (Potential).				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1						CGTAGTCTGGTTGTAGTACTC	0.627													G	109546637	T	G	109546637	3	3	96	1	0	0	0	0	1	0	0	0	4905	1725	60	5	1273	5	EDAR	2	109546637	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	430526	109546637	133652736	159	63121											
CYP27C1	339761	broad.mit.edu	37	chr2	127956986	127956986	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagcatctcagtcacgTtggcgtagatctcctgcagc	10	14	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:127956986T>G	uc002tod.2	-	4	649	c.518A>C	c.(517-519)AAC>ACC	p.N173T		NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C,	173						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CTCAGTCACGTTGGCGTAGAT	0.582													G	127956986	T	G	127956986	3	3	96	1	0	0	0	0	1	0	0	0	4160	1725	60	5	620	5	CYP27C1	2	127956986	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	18410349	127956986	115242387	160	63122											
ERCC3	2071	broad.mit.edu	37	chr2	128050327	128050327	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtactcatgcacatgggtTggtcggcacactggctctgc	12	11	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:128050327T>C	uc002toh.1	-	3	425	c.330A>G	c.(328-330)CCA>CCG	p.P110P	ERCC3_uc002toe.1_5'Flank|ERCC3_uc002tof.1_Silent_p.P46P|ERCC3_uc002tog.1_Silent_p.P46P|ERCC3_uc010flx.1_Intron|ERCC3_uc010yzh.1_RNA|ERCC3_uc010fly.2_Intron	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	110					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GCACATGGGTTGGTCGGCACA	0.512			Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				C	128050327	T	C	128050327	2	2	96	1	0	0	0	0	0	0	0	1	5214	1799	63	3		3	ERCC3	2	128050327	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	93341	128050327	115149046	161	63123											
SAP130	79595	broad.mit.edu	37	chr2	128707874	128707874	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgctgttgctttcgaggcTttttccttggggaggcacca	12	10	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:128707874T>G	uc002tpp.2	-	16	2636	c.2504A>C	c.(2503-2505)AAG>ACG	p.K835T	SAP130_uc002tpn.2_Missense_Mutation_p.K595T|SAP130_uc002tpo.2_Missense_Mutation_p.K615T|SAP130_uc010fmd.2_Missense_Mutation_p.K870T	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	835	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CTTTCGAGGCTTTTTCCTTGG	0.498													G	128707874	T	G	128707874	3	3	96	1	0	0	0	0	1	0	0	0	13831	1609	56	5	662	5	SAP130	2	128707874	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	657547	128707874	114491499	162	63124											
IMP4	92856	broad.mit.edu	37	chr2	131103502	131103502	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttctcctcccgcctgggcaAgcgggtgagtctgggggcct	15	14	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:131103502A>T	uc002tra.1	+	6	607	c.590A>T	c.(589-591)AAG>ATG	p.K197M		NM_033416	NP_219484	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein,	197	Brix.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)	2	Colorectal(110;0.1)					CGCCTGGGCAAGCGGGTGAGT	0.632													T	131103502	A	T	131103502	3	4	96	1	0	0	0	0	1	0	0	0	7720	72	3	5	612	5	IMP4	2	131103502	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2395628	131103502	112095871	163	63125											
LCT	3938	broad.mit.edu	37	chr2	136561695	136561695	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taggtcccagtggtaaatggTcacctgggaagaagccagat	13	8	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:136561695T>A	uc002tuu.1	-	11	4479	c.4468A>T	c.(4468-4470)ACC>TCC	p.T1490S		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1490	Extracellular (Potential).|4.|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGGTAAATGGTCACCTGGGAA	0.517													A	136561695	T	A	136561695	3	1	96	1	0	0	0	0	1	0	0	0	8693	1667	58	5	1343	5	LCT	2	136561695	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5458193	136561695	106637678	164	63126											
NEB	4703	broad.mit.edu	37	chr2	152423760	152423760	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatccattggtgcaagtaAttacgataatcaatatcact	5	9	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:152423760A>C	uc010fnx.2	-	86	13166	c.12975T>G	c.(12973-12975)AAT>AAG	p.N4325K	NEB_uc002txr.2_Missense_Mutation_p.N748K	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	4325	Nebulin 118.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGTGCAAGTAATTACGATAAT	0.423													C	152423760	A	C	152423760	3	2	96	1	0	0	0	0	1	0	0	0	10302	98	4	5	7884	5	NEB	2	152423760	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	15862065	152423760	90775613	165	63127											
NEB	4703	broad.mit.edu	37	chr2	152520300	152520300	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgcatgaagtgcaccagcTtggggtcatcttccaggctc	11	12	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:152520300T>G	uc010fnx.2	-	45	5716	c.5525A>C	c.(5524-5526)AAG>ACG	p.K1842T		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1842	Nebulin 48.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTGCACCAGCTTGGGGTCATC	0.488													G	152520300	T	G	152520300	3	3	96	1	0	0	0	0	1	0	0	0	10302	1609	56	5	20713	5	NEB	2	152520300	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	96540	152520300	90679073	166	63128											
SCN3A	6328	broad.mit.edu	37	chr2	166011114	166011114	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caccaaataaaatgagcccaAgaaaatgaccaggacaaaaa	6	9	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:166011114A>T	uc002ucx.2	-	11	1720	c.1228T>A	c.(1228-1230)TTG>ATG	p.L410M	SCN3A_uc002ucy.2_Missense_Mutation_p.L410M|SCN3A_uc002ucz.2_Missense_Mutation_p.L410M|SCN3A_uc002uda.1_Missense_Mutation_p.L279M|SCN3A_uc002udb.1_Missense_Mutation_p.L279M	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	410	Helical; Name=S6 of repeat I; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	AATGAGCCCAAGAAAATGACC	0.428													T	166011114	A	T	166011114	3	4	96	1	0	0	0	0	1	0	0	0	13918	69	3	5	4846	5	SCN3A	2	166011114	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	13490814	166011114	77188259	167	63129											
SCN2A	6326	broad.mit.edu	37	chr2	166210929	166210929	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagatctaaataataaaaaAgacagctgtatttccaacca	5	7	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:166210929A>C	uc002udc.2	+	17	3437	c.3147A>C	c.(3145-3147)AAA>AAC	p.K1049N	SCN2A_uc002udd.2_Missense_Mutation_p.K1049N|SCN2A_uc002ude.2_Missense_Mutation_p.K1049N	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1049					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	ATAATAAAAAAGACAGCTGTA	0.348													C	166210929	A	C	166210929	3	2	96	1	0	0	0	0	1	0	0	0	13916	69	3	5	3305	5	SCN2A	2	166210929	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	199815	166210929	76988444	168	63130											
SCN2A	6326	broad.mit.edu	37	chr2	166237231	166237231	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagataacttcaaccaacagAaaaagaagataagtatatta	5	5	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:166237231A>G	uc002udc.2	+	24	4728	c.4438A>G	c.(4438-4440)AAA>GAA	p.K1480E	SCN2A_uc002udd.2_Missense_Mutation_p.K1480E|SCN2A_uc002ude.2_Missense_Mutation_p.K1480E	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1480	III.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	CAACCAACAGAAAAAGAAGAT	0.289													G	166237231	A	G	166237231	3	3	96	1	0	0	0	0	1	0	0	0	13916	247	9	3	4624	3	SCN2A	2	166237231	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	26302	166237231	76962142	169	63131											
TTC21B	79809	broad.mit.edu	37	chr2	166797624	166797624	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcaggaaggaagctcggaAaattcacgattatctggttc	11	7	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:166797624A>C	uc002udk.2	-	6	756	c.623T>G	c.(622-624)TTT>TGT	p.F208C	TTC21B_uc002udl.2_Missense_Mutation_p.F208C|uc002udm.1_Intron	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	208	TPR 3.					cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						GAAGCTCGGAAAATTCACGAT	0.413													C	166797624	A	C	166797624	3	2	96	1	0	0	0	0	1	0	0	0	16685	14	1	5	3423	5	TTC21B	2	166797624	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	560393	166797624	76401749	170	63132											
SCN1A	6323	broad.mit.edu	37	chr2	166901752	166901752	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcactcttggaactcaacTtagaggcttcagatgagctg	10	9	3	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:166901752T>G	uc010zcz.1	-	10	1481	c.1463A>C	c.(1462-1464)AAG>ACG	p.K488T	SCN1A_uc002udo.3_Missense_Mutation_p.K357T|SCN1A_uc010fpk.2_Missense_Mutation_p.K357T	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	488						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGAACTCAACTTAGAGGCTTC	0.473													G	166901752	T	G	166901752	3	3	96	1	0	0	0	0	1	0	0	0	13914	1609	56	5	4634	5	SCN1A	2	166901752	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	104128	166901752	76297621	171	63133											
XIRP2	129446	broad.mit.edu	37	chr2	168104634	168104634	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accaacaaaaagcgggagacTgatgttcacttgaaaagcca	9	9	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:168104634T>G	uc002udx.2	+	8	6750	c.6732T>G	c.(6730-6732)ACT>ACG	p.T2244T	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.T2069T|XIRP2_uc010fpq.2_Silent_p.T2022T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2069					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AGCGGGAGACTGATGTTCACT	0.378													G	168104634	T	G	168104634	2	3	96	1	0	0	0	0	0	0	0	1	17427	1567	55	5		5	XIRP2	2	168104634	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1202882	168104634	75094739	172	63134											
B3GALT1	8708	broad.mit.edu	37	chr2	168725911	168725911	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgttcctcctgggcaagaAtgctgatcctgttctcaatc	8	13	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:168725911A>C	uc002udz.1	+	2	713	c.362A>C	c.(361-363)AAT>ACT	p.N121T		NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta	121	Lumenal (Potential).				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(2)|pancreas(1)|skin(1)	4						CTGGGCAAGAATGCTGATCCT	0.483													C	168725911	A	C	168725911	3	2	96	1	0	0	0	0	1	0	0	0	1247	101	4	5	364	5	B3GALT1	2	168725911	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	621277	168725911	74473462	173	63135											
FASTKD1	79675	broad.mit.edu	37	chr2	170387195	170387195	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaagtgcttttgaatccaAaaattccaaagcaatcctac	4	10	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:170387195A>C	uc002uev.3	-	14	2732	c.2344T>G	c.(2344-2346)TTG>GTG	p.L782V	FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.L725V	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	782	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(4)	4						TTTGAATCCAAAAATTCCAAA	0.303													C	170387195	A	C	170387195	3	2	96	1	0	0	0	0	1	0	0	0	5685	11	1	5	207	5	FASTKD1	2	170387195	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1661284	170387195	72812178	174	63136											
AGPS	8540	broad.mit.edu	37	chr2	178386063	178386063	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctttaactacaggggaatTagtgacccactgaccgtatt	9	10	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:178386063T>C	uc002ull.2	+	18	1811	c.1764T>C	c.(1762-1764)ATT>ATC	p.I588I	AGPS_uc010zfb.1_Silent_p.I498I	NM_003659	NP_003650	O00116	ADAS_HUMAN	alkyldihydroxyacetone phosphate synthase	588					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			ovary(2)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			ACAGGGGAATTAGTGACCCAC	0.373													C	178386063	T	C	178386063	2	2	96	1	0	0	0	0	0	0	0	1	394	1742	61	3		3	AGPS	2	178386063	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	7998868	178386063	64813310	175	63137											
OSBPL6	114880	broad.mit.edu	37	chr2	179257153	179257153	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggttccatgccaacaAactatgagctgtactatggc	8	11	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:179257153A>C	uc002ulx.2	+	23	2839	c.2461A>C	c.(2461-2463)AAC>CAC	p.N821H	OSBPL6_uc002uly.2_Missense_Mutation_p.N846H|OSBPL6_uc010zfe.1_Missense_Mutation_p.N790H|OSBPL6_uc002ulz.2_Missense_Mutation_p.N785H|OSBPL6_uc002uma.2_Missense_Mutation_p.N825H	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	821					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CATGCCAACAAACTATGAGCT	0.463													C	179257153	A	C	179257153	3	2	96	1	0	0	0	0	1	0	0	0	11281	14	1	5	2665	5	OSBPL6	2	179257153	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	871090	179257153	63942220	176	63138											
TTN	7273	broad.mit.edu	37	chr2	179449266	179449266	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaaatacagtccttgttgActttggtgactcgtgcattc	8	9	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:179449266A>G	uc010zfg.1	-	260	57532	c.57308T>C	c.(57307-57309)GTC>GCC	p.V19103A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V12798A|TTN_uc010zfi.1_Missense_Mutation_p.V12731A|TTN_uc010zfj.1_Missense_Mutation_p.V12606A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20030							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCCTTGTTGACTTTGGTGAC	0.408													G	179449266	A	G	179449266	3	3	96	1	0	0	0	0	1	0	0	0	16732	275	10	3	43175	3	TTN	2	179449266	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	192113	179449266	63750107	177	63139											
TTN	7273	broad.mit.edu	37	chr2	179455636	179455636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggtttaccaggaggagaCggaggactaaatttatgctt	12	6	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:179455636C>T	uc010zfg.1	-	253	53336	c.53112G>A	c.(53110-53112)CCG>CCA	p.P17704P	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.P11399P|TTN_uc010zfi.1_Silent_p.P11332P|TTN_uc010zfj.1_Silent_p.P11207P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18631							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGAGGAGACGGAGGACTAA	0.458													T	179455636	C	T	179455636	2	4	96	1	0	0	0	0	0	0	0	1	16732	523	19	1		1	TTN	2	179455636	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	6370	179455636	63743737	178	63140											
TTN	7273	broad.mit.edu	37	chr2	179528765	179528765	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taacaggtgggacttcaggcTttttaggaggcaccaccgac	12	10	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:179528765T>C	uc010zfk.1	-	14	1327	c.779A>G	c.(778-780)AAG>AGG	p.K260R	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron			Q8WZ42	TITIN_HUMAN	SubName: Full=Titin; Flags: Fragment;	11472							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R256_K260>K(1)		ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACTTCAGGCTTTTTAGGAGG	0.388													C	179528765	T	C	179528765	3	2	96	1	0	0	0	0	1	0	0	0	16732	1624	56	3		3	TTN	2	179528765	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	73129	179528765	63670608	179	63141											
TTN	7273	broad.mit.edu	37	chr2	179576069	179576069	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagaaaatgatggtggaagTttttgctctgtaggaacaga	13	4	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:179576069T>G	uc010zfg.1	-	94	24386	c.24162A>C	c.(24160-24162)AAA>AAC	p.K8054N	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K4715N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8981							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGTGGAAGTTTTTGCTCTG	0.338													G	179576069	T	G	179576069	3	3	96	1	0	0	0	0	1	0	0	0	16732	1722	60	5	76699	5	TTN	2	179576069	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	47304	179576069	63623304	180	63142											
TTN	7273	broad.mit.edu	37	chr2	179577516	179577516	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgatgtatctacatcgAacaactccagttcagcaact	6	10	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:179577516A>C	uc010zfg.1	-	91	23728	c.23504T>G	c.(23503-23505)TTC>TGC	p.F7835C	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F4496C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8762							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTACATCGAACAACTCCAG	0.423													C	179577516	A	C	179577516	3	2	96	1	0	0	0	0	1	0	0	0	16732	246	9	5	77369	5	TTN	2	179577516	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1447	179577516	63621857	181	63143											
TTN	7273	broad.mit.edu	37	chr2	179577970	179577970	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttccactactgatctcaTttccttcatggaaccaggag	6	13	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:179577970T>C	uc010zfg.1	-	90	23383	c.23159A>G	c.(23158-23160)AAT>AGT	p.N7720S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N4381S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8647							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGATCTCATTTCCTTCATG	0.433													C	179577970	T	C	179577970	3	2	96	1	0	0	0	0	1	0	0	0	16732	1493	52	3	77718	3	TTN	2	179577970	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	454	179577970	63621403	182	63144											
TTN	7273	broad.mit.edu	37	chr2	179595420	179595420	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaaccactggatgcttatgGgatgtgacccagccactata	10	10	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:179595420G>T	uc010zfg.1	-	58	14332	c.14108C>A	c.(14107-14109)CCC>CAC	p.P4703H	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P1364H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5630							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGCTTATGGGATGTGACCC	0.378													T	179595420	G	T	179595420	3	4	96	1	0	0	0	0	1	0	0	0	16732	1232	43	5	86897	5	TTN	2	179595420	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	17450	179595420	63603953	183	63145											
TTN	7273	broad.mit.edu	37	chr2	179610355	179610355	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctctcagccattcctgatTtgtttgtagctacacaccta	6	12	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:179610355T>G	uc002unb.2	-	46	16996	c.16772A>C	c.(16771-16773)AAA>ACA	p.K5591T	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTCCTGATTTGTTTGTAGC	0.383													G	179610355	T	G	179610355	3	3	96	1	0	0	0	0	1	0	0	0	16732	1841	64	5	93525	5	TTN	2	179610355	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	14935	179610355	63589018	184	63146											
TTN	7273	broad.mit.edu	37	chr2	179639750	179639750	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatggtcagtatggagaggaAgtgaacctttctgtcagagt	13	5	3	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:179639750A>T	uc010zfg.1	-	29	6912	c.6688T>A	c.(6688-6690)TTC>ATC	p.F2230I	TTN_uc010zfh.1_Missense_Mutation_p.F2184I|TTN_uc010zfi.1_Missense_Mutation_p.F2184I|TTN_uc010zfj.1_Missense_Mutation_p.F2184I|TTN_uc002unb.2_Missense_Mutation_p.F2230I|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2230							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGAGAGGAAGTGAACCTTT	0.388													T	179639750	A	T	179639750	3	4	96	1	0	0	0	0	1	0	0	0	16732	72	3	5	104636	5	TTN	2	179639750	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	29395	179639750	63559623	185	63147											
TTN	7273	broad.mit.edu	37	chr2	179641097	179641097	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttctttctgatctgttgTtacacctgtaagtgcacctt	6	10	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:179641097T>G	uc010zfg.1	-	28	5718	c.5494A>C	c.(5494-5496)ACA>CCA	p.T1832P	TTN_uc010zfh.1_Missense_Mutation_p.T1786P|TTN_uc010zfi.1_Missense_Mutation_p.T1786P|TTN_uc010zfj.1_Missense_Mutation_p.T1786P|TTN_uc002unb.2_Missense_Mutation_p.T1832P|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1832							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATCTGTTGTTACACCTGTA	0.458													G	179641097	T	G	179641097	3	3	96	1	0	0	0	0	1	0	0	0	16732	1725	60	5	105834	5	TTN	2	179641097	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1347	179641097	63558276	186	63148											
CWC22	57703	broad.mit.edu	37	chr2	180835492	180835492	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtggtccttgaatccatcTttccgtacagcaaacatcac	8	12	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:180835492T>G	uc010frh.1	-	10	1332	c.1032A>C	c.(1030-1032)AAA>AAC	p.K344N	CWC22_uc002unp.2_Missense_Mutation_p.K344N	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog	344	MIF4G.					catalytic step 2 spliceosome	protein binding|RNA binding				0						TGAATCCATCTTTCCGTACAG	0.383													G	180835492	T	G	180835492	3	3	96	1	0	0	0	0	1	0	0	0	4068	1606	56	5	1738	5	CWC22	2	180835492	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1194395	180835492	62363881	187	63149											
NEUROD1	4760	broad.mit.edu	37	chr2	182542972	182542973	+	Frame_Shift_Ins	INS	-	-	G													gcgctggccgtcggcaggtgINSggggggcatgtcctggttct							TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:182542971_182542972T>TG	uc021vto.1	-	0	616_617	c.616_617A>CA	c.(616-618)cacfs	p.H206fs	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Frame_Shift_Ins_p.H206fs|NEUROD1_uc021vtn.1_Frame_Shift_Ins_p.H206fs	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													G	182542973	-	G	182542972	7	5	96	1	0	1	1	0	0	0	0	0	10348	1348	47	0	458	0	NEUROD1	2	182542972	Frame_Shift_Ins	INS	-	TCGA-BR-8589-01A-11D-2394-08	1707480	182542972	60656401	188	63150											
ZSWIM2	151112	broad.mit.edu	37	chr2	187693238	187693238	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtattttcataggcatcttTtgggctttgaggtgtattca	10	5	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:187693238T>G	uc002upu.1	-	9	1415	c.1375A>C	c.(1375-1377)AAA>CAA	p.K459Q		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	459					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TAGGCATCTTTTGGGCTTTGA	0.284													G	187693238	T	G	187693238	3	3	96	1	0	0	0	0	1	0	0	0	18238	1850	64	5	530	5	ZSWIM2	2	187693238	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5150266	187693238	55506135	189	63151											
ANKAR	150709	broad.mit.edu	37	chr2	190554291	190554291	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggatccagactttaatgaaAtctatgatgaagacgtgaat	9	5	1	6			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:190554291A>C	uc002uqw.1	+	2	427	c.427A>C	c.(427-429)ATC>CTC	p.I143L	ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqv.1_Missense_Mutation_p.I214L	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	214						integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTTTAATGAAATCTATGATGA	0.303													C	190554291	A	C	190554291	3	2	96	1	0	0	0	0	1	0	0	0	623	101	4	5	646	5	ANKAR	2	190554291	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2861053	190554291	52645082	190	63152											
ANKAR	150709	broad.mit.edu	37	chr2	190554626	190554626	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atatgttttctgattccattTctactgagtttaaagaagaa	6	5	2	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:190554626T>G	uc002uqw.1	+	2	762	c.762T>G	c.(760-762)TTT>TTG	p.F254L	ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqv.1_Missense_Mutation_p.F325L	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	325	Helical; (Potential).					integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGATTCCATTTCTACTGAGTT	0.274													G	190554626	T	G	190554626	3	3	96	1	0	0	0	0	1	0	0	0	623	1780	62	5	981	5	ANKAR	2	190554626	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	335	190554626	52644747	191	63153											
ANKAR	150709	broad.mit.edu	37	chr2	190585496	190585496	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcccatatcttatcagatTtctgagttctgattcaggtg	7	10	5	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:190585496T>G	uc002uqw.1	+	11	2405	c.2405T>G	c.(2404-2406)TTT>TGT	p.F802C	ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	873	ARM 4.					integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTTATCAGATTTCTGAGTTCT	0.343													G	190585496	T	G	190585496	3	3	96	1	0	0	0	0	1	0	0	0	623	1841	64	5	2660	5	ANKAR	2	190585496	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	30870	190585496	52613877	192	63154											
PMS1	5378	broad.mit.edu	37	chr2	190719033	190719033	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattacctagtacaaattcTtatgaaaataataaaacaga	3	7	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:190719033T>C	uc002urh.3	+	9	1564	c.1035T>C	c.(1033-1035)TCT>TCC	p.S345S	PMS1_uc010zga.1_Silent_p.S306S|PMS1_uc010zgb.1_Silent_p.S284S|PMS1_uc002urk.3_Silent_p.S306S|PMS1_uc002uri.3_Silent_p.S345S|PMS1_uc010zgc.1_Silent_p.S169S|PMS1_uc010zgd.1_Silent_p.S169S|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Silent_p.S306S|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Silent_p.S130S|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Silent_p.S13S	NM_000534	NP_000525	P54277	PMS1_HUMAN	postmeiotic segregation 1 isoform a	345					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GTACAAATTCTTATGAAAATA	0.318			Mis|N			colorectal|endometrial|ovarian		Direct_reversal_of_damage|MMR					C	190719033	T	C	190719033	2	2	96	1	0	0	0	0	0	0	0	1	12142	1596	56	3		3	PMS1	2	190719033	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	133537	190719033	52480340	193	63155											
PMS1	5378	broad.mit.edu	37	chr2	190719376	190719376	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atagtaaaacttgttttataAgttccgttaagcacacccag	6	8	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:190719376A>C	uc002urh.3	+	9	1907	c.1378A>C	c.(1378-1380)AGT>CGT	p.S460R	PMS1_uc010zga.1_Missense_Mutation_p.S421R|PMS1_uc010zgb.1_Missense_Mutation_p.S399R|PMS1_uc002urk.3_Missense_Mutation_p.S421R|PMS1_uc002uri.3_Missense_Mutation_p.S460R|PMS1_uc010zgc.1_Missense_Mutation_p.S284R|PMS1_uc010zgd.1_Missense_Mutation_p.S284R|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.S421R|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.S245R|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Missense_Mutation_p.S128R	NM_000534	NP_000525	P54277	PMS1_HUMAN	postmeiotic segregation 1 isoform a	460					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TTGTTTTATAAGTTCCGTTAA	0.358			Mis|N			colorectal|endometrial|ovarian		Direct_reversal_of_damage|MMR					C	190719376	A	C	190719376	3	2	96	1	0	0	0	0	1	0	0	0	12142	72	3	5	1408	5	PMS1	2	190719376	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	343	190719376	52479997	194	63156											
SLC39A10	57181	broad.mit.edu	37	chr2	196545252	196545252	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaaagagacagttgaagtGtctgtaaaatctgatgataa	11	3	2	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:196545252G>T	uc002utg.3	+	2	700	c.486G>T	c.(484-486)GTG>GTT	p.V162V	SLC39A10_uc002uth.3_Silent_p.V162V|SLC39A10_uc010zgp.1_Intron	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter),	162	His-rich.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.221)			CAGTTGAAGTGTCTGTAAAAT	0.363													T	196545252	G	T	196545252	2	4	96	1	0	0	0	0	0	0	0	1	14613	1364	48	5		5	SLC39A10	2	196545252	Silent	SNP	G	TCGA-BR-8589-01A-11D-2394-08	5825876	196545252	46654121	195	63157											
PGAP1	80055	broad.mit.edu	37	chr2	197712683	197712683	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacttaccccaacagaaacTtaatgataattacaaaagga	4	8	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:197712683T>G	uc002utw.2	-	21	2054	c.1940A>C	c.(1939-1941)AAG>ACG	p.K647T	PGAP1_uc002utx.2_Missense_Mutation_p.K473T|PGAP1_uc002uty.1_3'UTR|PGAP1_uc010fsi.2_5'Flank	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	647	Helical; (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			ovary(3)|central_nervous_system(1)	4						CAACAGAAACTTAATGATAAT	0.274													G	197712683	T	G	197712683	3	3	96	1	0	0	0	0	1	0	0	0	11777	1609	56	5	856	5	PGAP1	2	197712683	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1167431	197712683	45486690	196	63158											
BOLL	66037	broad.mit.edu	37	chr2	198641795	198641795	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcatacctcttgtaaaatTttttgtgcatcttcttgtgt	6	7	4	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:198641795T>G	uc002uus.2	-	4	574	c.264A>C	c.(262-264)AAA>AAC	p.K88N	BOLL_uc002uur.2_Missense_Mutation_p.K94N|BOLL_uc002uut.2_Missense_Mutation_p.K100N|BOLL_uc010zha.1_Intron|BOLL_uc002uuu.1_Missense_Mutation_p.K94N	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	boule isoform 2	88	RRM.				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			ovary(2)	2						CTTGTAAAATTTTTTGTGCAT	0.254													G	198641795	T	G	198641795	3	3	96	1	0	0	0	0	1	0	0	0	1487	1838	64	5	619	5	BOLL	2	198641795	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	929112	198641795	44557578	197	63159											
TRAK2	66008	broad.mit.edu	37	chr2	202245793	202245793	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagaagtttggccaagcTcatggtgctactgaaggttg	13	6	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:202245793T>A	uc002uyb.3	-	16	2664	c.2218A>T	c.(2218-2220)AGC>TGC	p.S740C		NM_015049	NP_055864	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	740				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding				0						TTGGCCAAGCTCATGGTGCTA	0.512													A	202245793	T	A	202245793	3	1	96	1	0	0	0	0	1	0	0	0	16447	1551	54	5	530	5	TRAK2	2	202245793	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3603998	202245793	40953580	198	63160											
ABI2	10152	broad.mit.edu	37	chr2	204291994	204291994	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaagaagaatgacgatggTtggtatgagggagttatgaa	14	2	1	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:204291994T>G	uc002vaa.2	+	11	1696	c.1461T>G	c.(1459-1461)GGT>GGG	p.G487G	ABI2_uc002uzz.2_Silent_p.G449G|ABI2_uc010zih.1_Silent_p.G135G|ABI2_uc010zii.1_Silent_p.G481G|ABI2_uc010zij.1_Silent_p.G364G|ABI2_uc002vab.2_Silent_p.G375G|ABI2_uc010zik.1_Silent_p.G212G|ABI2_uc010zil.1_Silent_p.G351G|ABI2_uc010zim.1_Silent_p.G300G|ABI2_uc002vac.2_Silent_p.G273G|ABI2_uc010zin.1_Silent_p.G164G	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	abl interactor 2	487	SH3.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding				0						ATGACGATGGTTGGTATGAGG	0.418													G	204291994	T	G	204291994	2	3	96	1	0	0	0	0	0	0	0	1	89	1712	60	5		5	ABI2	2	204291994	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2046201	204291994	38907379	199	63161											
MDH1B	130752	broad.mit.edu	37	chr2	207621681	207621681	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agggcttcttcctcctgctcTttttctatatgtgcccccag	7	14	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:207621681T>A	uc002vbs.2	-	4	409	c.354A>T	c.(352-354)AAA>AAT	p.K118N	MDH1B_uc010ziw.1_RNA|MDH1B_uc010fui.2_Missense_Mutation_p.K118N|MDH1B_uc010fuj.2_Missense_Mutation_p.K20N|MDH1B_uc002vbt.2_RNA	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	118					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			ovary(3)|kidney(1)	4				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CCTCCTGCTCTTTTTCTATAT	0.438													A	207621681	T	A	207621681	3	1	96	1	0	0	0	0	1	0	0	0	9409	1606	56	5	1238	5	MDH1B	2	207621681	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3329687	207621681	35577692	200	63162											
PIKFYVE	200576	broad.mit.edu	37	chr2	209179076	209179076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgcctttcacacctttGggctggcatcataacaacct	8	13	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:209179076G>A	uc002vcz.2	+	14	1913	c.1755G>A	c.(1753-1755)TTG>TTA	p.L585L	PIKFYVE_uc010fun.1_Silent_p.L266L|PIKFYVE_uc002vcy.1_Silent_p.L529L	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	585					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						TCACACCTTTGGGCTGGCATC	0.388													A	209179076	G	A	209179076	2	1	96	1	0	0	0	0	0	0	0	1	11924	1339	47	4		4	PIKFYVE	2	209179076	Silent	SNP	G	TCGA-BR-8589-01A-11D-2394-08	1557395	209179076	34020297	201	63163											
SPAG16	79582	broad.mit.edu	37	chr2	214794832	214794832	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaattttgtggcttcctccTcactggataaaactagcaaa	7	10	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:214794832T>C	uc002veq.2	+	12	1455	c.1363T>C	c.(1363-1365)TCA>CCA	p.S455P	SPAG16_uc010fuz.1_Missense_Mutation_p.S306P|SPAG16_uc002ver.2_Missense_Mutation_p.S401P|SPAG16_uc010zjk.1_Missense_Mutation_p.S361P	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	455	WD 3.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GGCTTCCTCCTCACTGGATAA	0.433													C	214794832	T	C	214794832	3	2	96	1	0	0	0	0	1	0	0	0	14978	1551	54	3	1425	3	SPAG16	2	214794832	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5615756	214794832	28404541	202	63164											
TNS1	7145	broad.mit.edu	37	chr2	218712817	218712817	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggggtctctgccaatggcTgagggctgggcctgctggct	18	10	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:218712817T>C	uc002vgt.2	-	17	2446	c.2048A>G	c.(2047-2049)CAG>CGG	p.Q683R	TNS1_uc002vgr.2_Missense_Mutation_p.Q683R|TNS1_uc002vgs.2_Missense_Mutation_p.Q683R|TNS1_uc010zjv.1_Missense_Mutation_p.Q683R|TNS1_uc010fvj.1_Missense_Mutation_p.Q751R|TNS1_uc010fvk.1_Missense_Mutation_p.Q808R|TNS1_uc010fvi.1_Missense_Mutation_p.Q370R	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	683						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGCCAATGGCTGAGGGCTGGG	0.512													C	218712817	T	C	218712817	3	2	96	1	0	0	0	0	1	0	0	0	16340	1580	55	3	3227	3	TNS1	2	218712817	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3917985	218712817	24486556	203	63165											
TNS1	7145	broad.mit.edu	37	chr2	218713280	218713280	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggtagcccccctcacTggtgttggtgaccccgtcca	11	16	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:218713280T>C	uc002vgt.2	-	17	1983	c.1585A>G	c.(1585-1587)AGT>GGT	p.S529G	TNS1_uc002vgr.2_Missense_Mutation_p.S529G|TNS1_uc002vgs.2_Missense_Mutation_p.S529G|TNS1_uc010zjv.1_Missense_Mutation_p.S529G|TNS1_uc010fvj.1_Missense_Mutation_p.S597G|TNS1_uc010fvk.1_Missense_Mutation_p.S654G|TNS1_uc010fvi.1_Missense_Mutation_p.S216G	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	529						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCCCCCTCACTGGTGTTGGTG	0.602													C	218713280	T	C	218713280	3	2	96	1	0	0	0	0	1	0	0	0	16340	1580	55	3	3690	3	TNS1	2	218713280	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	463	218713280	24486093	204	63166											
CXCR1	3577	broad.mit.edu	37	chr2	219029780	219029780	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagtttcccagcaggctcAgcaggaacactagggcatag	14	10	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:219029780A>C	uc002vhc.2	-	2	274	c.155T>G	c.(154-156)CTG>CGG	p.L52R		NM_000634	NP_000625	P25024	CXCR1_HUMAN	interleukin 8 receptor alpha	52	Helical; Name=1; (Potential).				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			lung(2)	2						CAGCAGGCTCAGCAGGAACAC	0.542													C	219029780	A	C	219029780	3	2	96	1	0	0	0	0	1	0	0	0	4090	188	7	5	901	5	CXCR1	2	219029780	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	316500	219029780	24169593	205	63167											
PLCD4	84812	broad.mit.edu	37	chr2	219483332	219483332	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtggagacaatacgtaAtggccatgattccgagttgc	12	7	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:219483332A>C	uc002vij.1	+	4	407	c.212A>C	c.(211-213)AAT>ACT	p.N71T	PLCD4_uc010zkj.1_Missense_Mutation_p.N18T|PLCD4_uc002vik.1_5'Flank|PLCD4_uc010zkk.1_5'Flank	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	71	PH.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)	3		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ACAATACGTAATGGCCATGAT	0.542													C	219483332	A	C	219483332	3	2	96	1	0	0	0	0	1	0	0	0	12033	101	4	5	222	5	PLCD4	2	219483332	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	453552	219483332	23716041	206	63168											
GLB1L	79411	broad.mit.edu	37	chr2	220101987	220101987	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcccctaggaaacagcaggAatcttggcacgtagagggtc	12	11	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:220101987A>G	uc002vkm.2	-	17	2011	c.1772T>C	c.(1771-1773)TTC>TCC	p.F591S	GLB1L_uc002vkk.2_Missense_Mutation_p.F348S|GLB1L_uc010zkx.1_Missense_Mutation_p.F501S|GLB1L_uc002vkn.2_Missense_Mutation_p.F591S	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like precursor	591					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds				0		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAACAGCAGGAATCTTGGCAC	0.512													G	220101987	A	G	220101987	3	3	96	1	0	0	0	0	1	0	0	0	6428	246	9	3	196	3	GLB1L	2	220101987	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	618655	220101987	23097386	207	63169											
EPHA4	2043	broad.mit.edu	37	chr2	222428958	222428958	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cggaagactattgcagtcccTcaaggtgaatttaatctcaa	8	9	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:222428958T>A	uc002vmq.2	-	3	358	c.316A>T	c.(316-318)AGG>TGG	p.R106W	EPHA4_uc002vmr.2_Missense_Mutation_p.R106W|EPHA4_uc010zlm.1_Missense_Mutation_p.R47W|EPHA4_uc010zln.1_Missense_Mutation_p.R106W	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	106	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTGCAGTCCCTCAAGGTGAAT	0.473													A	222428958	T	A	222428958	3	1	96	1	0	0	0	0	1	0	0	0	5169	1550	54	5	2704	5	EPHA4	2	222428958	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2326971	222428958	20770415	208	63170											
SCG2	7857	broad.mit.edu	37	chr2	224463728	224463728	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctttcatcgccattttcTttttgctgaagggggacaga	11	8	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:224463728T>G	uc002vnm.2	-	2	406	c.273A>C	c.(271-273)AAA>AAC	p.K91N		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	91					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			ovary(1)	1		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGCCATTTTCTTTTTGCTGAA	0.453													G	224463728	T	G	224463728	3	3	96	1	0	0	0	0	1	0	0	0	13891	1606	56	5	1584	5	SCG2	2	224463728	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2034770	224463728	18735645	209	63171											
SLC19A3	80704	broad.mit.edu	37	chr2	228560750	228560750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagccagctctcccagaaGgtcccagttgactttcacat	8	14	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:228560750G>A	uc002vpi.2	-	4	1116	c.1027C>T	c.(1027-1029)CTT>TTT	p.L343F	SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.L339F	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	solute carrier family 19, member 3	343	Helical; (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TCTCCCAGAAGGTCCCAGTTG	0.463													A	228560750	G	A	228560750	3	1	96	1	0	0	0	0	1	0	0	0	14430	1000	35	4	475	4	SLC19A3	2	228560750	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	4097022	228560750	14638623	210	63172											
SPHKAP	80309	broad.mit.edu	37	chr2	228846499	228846499	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctgctcctcatgcattttGcagtactggacaactgcatg	8	11	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:228846499G>T	uc002vpq.2	-	12	5084	c.5037C>A	c.(5035-5037)TGC>TGA	p.C1679*	SPHKAP_uc002vpp.2_Nonsense_Mutation_p.C1650*|SPHKAP_uc010zlx.1_3'UTR	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1679						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATGCATTTTGCAGTACTGGA	0.463													T	228846499	G	T	228846499	4	4	96	1	0	0	0	0	0	1	0	0	15047	1311	46	5	69	5	SPHKAP	2	228846499	Nonsense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	285749	228846499	14352874	211	63173											
SPHKAP	80309	broad.mit.edu	37	chr2	228881411	228881411	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagaagcagttttgctcaAagatgacactgggggctgtt	13	6	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:228881411A>C	uc002vpq.2	-	7	4206	c.4159T>G	c.(4159-4161)TTG>GTG	p.L1387V	SPHKAP_uc002vpp.2_Missense_Mutation_p.L1387V|SPHKAP_uc010zlx.1_Missense_Mutation_p.L1387V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1387						cytoplasm	protein binding	p.L1387L(1)		skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTTTTGCTCAAAGATGACACT	0.478													C	228881411	A	C	228881411	3	2	96	1	0	0	0	0	1	0	0	0	15047	11	1	5	967	5	SPHKAP	2	228881411	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	34912	228881411	14317962	212	63174											
FBXO36	130888	broad.mit.edu	37	chr2	230861562	230861562	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacggctctcagacgatTtgctcctgactatcatttct	7	11	3	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:230861562T>C	uc002vqa.2	+	3	324	c.301T>C	c.(301-303)TTG>CTG	p.L101L	FBXO36_uc002vqb.2_Silent_p.L70L|FBXO36_uc010fxi.1_Silent_p.L101L|FBXO36_uc002vqc.2_RNA	NM_174899	NP_777559	Q8NEA4	FBX36_HUMAN	F-box protein 36	101	F-box.									ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTCAGACGATTTGCTCCTGAC	0.368													C	230861562	T	C	230861562	2	2	96	1	0	0	0	0	0	0	0	1	5745	1838	64	3		3	FBXO36	2	230861562	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1980151	230861562	12337811	213	63175											
SLC16A14	151473	broad.mit.edu	37	chr2	230910769	230910769	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgtgaactattgctataAttgacgtcagagggaaaacg	11	5	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:230910769A>C	uc002vqd.1	-	4	1436	c.1073T>G	c.(1072-1074)ATT>AGT	p.I358S	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.I358S|SLC16A14_uc002vqf.2_Missense_Mutation_p.I358S	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	358	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TATTGCTATAATTGACGTCAG	0.438													C	230910769	A	C	230910769	3	2	96	1	0	0	0	0	1	0	0	0	14407	101	4	5	467	5	SLC16A14	2	230910769	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	49207	230910769	12288604	214	63176											
TRAF3IP1	26146	broad.mit.edu	37	chr2	239234574	239234574	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcctgaaagaacaaacgAgctgctccagataattggaa	10	8	0	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:239234574A>G	uc002vye.2	+	3	436	c.317A>G	c.(316-318)GAG>GGG	p.E106G	TRAF3IP1_uc002vyf.2_Missense_Mutation_p.E106G	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting	106	Abolishes microtubules-binding when missing.					cytoplasm|cytoskeleton	protein binding			ovary(1)	1		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		AGAACAAACGAGCTGCTCCAG	0.488													G	239234574	A	G	239234574	3	3	96	1	0	0	0	0	1	0	0	0	16437	304	11	3	327	3	TRAF3IP1	2	239234574	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	8323805	239234574	3964799	215	63177											
SNED1	25992	broad.mit.edu	37	chr2	241992724	241992724	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccacacggtgtctggagTgagcctccccagtgccttgg	13	14	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr2:241992724T>G	uc002wah.1	+	16	2238	c.2238T>G	c.(2236-2238)AGT>AGG	p.S746R		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	746	Sushi.				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GTGTCTGGAGTGAGCCTCCCC	0.692													G	241992724	T	G	241992724	3	3	96	1	0	0	0	0	1	0	0	0	14845	1693	59	5	2300	5	SNED1	2	241992724	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2758150	241992724	1206649	216	63178											
CNTN4	152330	broad.mit.edu	37	chr3	2787211	2787211	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttttatactataggtggaAgttaaatggaacagatgttg	10	2	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:2787211A>C	uc003bpc.2	+	5	409	c.188A>C	c.(187-189)AAG>ACG	p.K63T	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.K63T	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	63	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TATAGGTGGAAGTTAAATGGA	0.323													C	2787211	A	C	2787211	3	2	96	1	0	0	0	0	1	0	0	0	3643	72	3	5	198	5	CNTN4	3	2787211	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08		2787211	195235219	217	63179											
EDEM1	9695	broad.mit.edu	37	chr3	5246886	5246886	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaagacctagaaatgtttAatgctgcatatcagagtatt	8	5	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:5246886A>C	uc003bqi.2	+	6	1309	c.1177A>C	c.(1177-1179)AAT>CAT	p.N393H	EDEM1_uc011asz.1_Missense_Mutation_p.N171H|EDEM1_uc003bqh.2_Missense_Mutation_p.N393H	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like	393	Lumenal (Potential).				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			ovary(2)|breast(1)	3				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		AGAAATGTTTAATGCTGCATA	0.418													C	5246886	A	C	5246886	3	2	96	1	0	0	0	0	1	0	0	0	4911	362	13	5	1199	5	EDEM1	3	5246886	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2459675	5246886	192775544	218	63180											
IL17RC	84818	broad.mit.edu	37	chr3	9975191	9975191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcccttcagccagccctgGatagctacttccatcccccg	9	18	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:9975191G>A	uc003bua.2	+	19	2526	c.2290G>A	c.(2290-2292)GAT>AAT	p.D764N	CIDEC_uc003bto.2_Intron|IL17RC_uc003btz.2_Missense_Mutation_p.D693N|IL17RC_uc011atp.1_Missense_Mutation_p.D519N|IL17RC_uc003bud.2_Missense_Mutation_p.D234N|IL17RC_uc003bub.2_Missense_Mutation_p.D678N|IL17RC_uc010hct.2_Missense_Mutation_p.D680N|IL17RC_uc010hcu.2_Missense_Mutation_p.D663N|IL17RC_uc010hcv.2_Missense_Mutation_p.D661N|IL17RC_uc011atq.1_3'UTR|IL17RC_uc003buc.2_Missense_Mutation_p.D221N|IL17RC_uc003bue.2_Missense_Mutation_p.D316N|CRELD1_uc003buf.2_5'Flank|CRELD1_uc003bug.2_5'Flank|CRELD1_uc003buh.2_5'Flank|CRELD1_uc003bui.2_5'Flank|CRELD1_uc003buj.2_5'Flank	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C isoform 1 precursor	764	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|pancreas(1)	2						GCCAGCCCTGGATAGCTACTT	0.716													A	9975191	G	A	9975191	3	1	96	1	0	0	0	0	1	0	0	0	7641	1174	41	4	2364	4	IL17RC	3	9975191	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	4728305	9975191	188047239	219	63181											
IRAK2	3656	broad.mit.edu	37	chr3	10255072	10255072	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggaagccattcgtcttcaAgaagctcagagaggtgagca	13	9	3	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:10255072A>C	uc003bve.1	+	5	786	c.710A>C	c.(709-711)AAG>ACG	p.K237T		NM_001570	NP_001561	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	237	Protein kinase.	ATP (By similarity).			activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			lung(5)|breast(3)	8						TTCGTCTTCAAGAAGCTCAGA	0.542													C	10255072	A	C	10255072	3	2	96	1	0	0	0	0	1	0	0	0	7823	72	3	5	728	5	IRAK2	3	10255072	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	279881	10255072	187767358	220	63182											
NUP210	23225	broad.mit.edu	37	chr3	13427890	13427890	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaatcagcagcctgacTtctgcagggcgtacattctt	8	12	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:13427890T>G	uc003bxv.1	-	6	785	c.702A>C	c.(700-702)GAA>GAC	p.E234D		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	234	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					GCAGCCTGACTTCTGCAGGGC	0.498													G	13427890	T	G	13427890	3	3	96	1	0	0	0	0	1	0	0	0	10760	1606	56	5	5101	5	NUP210	3	13427890	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3172818	13427890	184594540	221	63183											
C3orf20	84077	broad.mit.edu	37	chr3	14731604	14731604	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttctctctctgctggaaaAgaagccaagaagaaaatagg	9	7	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:14731604A>C	uc003byy.2	+	5	1130	c.726A>C	c.(724-726)AAA>AAC	p.K242N	C3orf20_uc003byz.2_Missense_Mutation_p.K120N|C3orf20_uc003bza.2_Missense_Mutation_p.K120N|C3orf20_uc003byx.1_Missense_Mutation_p.K242N	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	242						cytoplasm|integral to membrane				ovary(3)|skin(1)	4						CTGCTGGAAAAGAAGCCAAGA	0.522													C	14731604	A	C	14731604	3	2	96	1	0	0	0	0	1	0	0	0	2213	69	3	5	736	5	C3orf20	3	14731604	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1303714	14731604	183290826	222	63184											
ZFYVE20	64145	broad.mit.edu	37	chr3	15116058	15116058	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccctttctcgttccaacTcccgttcacgcaacatctgc	5	18	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:15116058T>G	uc003bzm.1	-	14	2200	c.1586A>C	c.(1585-1587)GAG>GCG	p.E529A	ZFYVE20_uc010hek.1_Missense_Mutation_p.E529A	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	529	Potential.|Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						TCGTTCCAACTCCCGTTCACG	0.602													G	15116058	T	G	15116058	3	3	96	1	0	0	0	0	1	0	0	0	17663	1551	54	5	772	5	ZFYVE20	3	15116058	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	384454	15116058	182906372	223	63185											
KAT2B	8850	broad.mit.edu	37	chr3	20187855	20187855	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcacaaattcgaaaagtTtaccctggactttcatgttt	7	9	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:20187855T>G	uc003cbq.2	+	14	2498	c.2052T>G	c.(2050-2052)GTT>GTG	p.V684V		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	684					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TTCGAAAAGTTTACCCTGGAC	0.338													G	20187855	T	G	20187855	2	3	96	1	0	0	0	0	0	0	0	1	7982	1828	64	5		5	KAT2B	3	20187855	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5071797	20187855	177834575	224	63186											
NEK10	152110	broad.mit.edu	37	chr3	27297800	27297800	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttaccaagaatacaggaTtgttccaaccacagaggtga	8	10	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:27297800T>G	uc003cdt.1	-	24	2351	c.2077A>C	c.(2077-2079)ATC>CTC	p.I693L	NEK10_uc003cds.1_Missense_Mutation_p.I90L	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10 isoform 3	693	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						GAATACAGGATTGTTCCAACC	0.343													G	27297800	T	G	27297800	3	3	96	1	0	0	0	0	1	0	0	0	10322	1493	52	5	69	5	NEK10	3	27297800	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	7109945	27297800	170724630	225	63187											
CMC1	152100	broad.mit.edu	37	chr3	28304858	28304858	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggccaaagagaggtgttcTgaacaagttcaaggtaacat	11	6	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:28304858T>C	uc003cea.2	+	2	257	c.96T>C	c.(94-96)TCT>TCC	p.S32S		NM_182523	NP_872329	Q7Z7K0	COXAM_HUMAN	COX assembly mitochondrial protein homolog	32						mitochondrion	metal ion binding				0						AGAGGTGTTCTGAACAAGTTC	0.308													C	28304858	T	C	28304858	2	2	96	1	0	0	0	0	0	0	0	1	3577	1567	55	3		3	CMC1	3	28304858	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1007058	28304858	169717572	226	63188											
AZI2	64343	broad.mit.edu	37	chr3	28368336	28368336	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacttgcctttcttgattgcAgttgaggttttcagttttct	9	7	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:28368336A>T	uc003ceb.2	-	7	1285	c.753T>A	c.(751-753)ACT>ACA	p.T251T	AZI2_uc003cec.2_Silent_p.T139T|AZI2_uc003ced.2_Silent_p.T251T|AZI2_uc003cee.3_Silent_p.T251T	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2 isoform a	251	Interaction with TBK1.					mitochondrion|plasma membrane				ovary(2)	2						TCTTGATTGCAGTTGAGGTTT	0.398													T	28368336	A	T	28368336	2	4	96	1	0	0	0	0	0	0	0	1	1241	175	7	5		5	AZI2	3	28368336	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	63478	28368336	169654094	227	63189											
TGFBR2	7048	broad.mit.edu	37	chr3	30732958	30732958	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgagtgctgggaccacgAcccagaggcccgtctcacag	13	14	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:30732958A>G	uc003ceo.2	+	7	1953	c.1571A>G	c.(1570-1572)GAC>GGC	p.D524G	TGFBR2_uc003cen.2_Missense_Mutation_p.D549G	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	524	Protein kinase.|Cytoplasmic (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.D524Y(1)		pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						TGGGACCACGACCCAGAGGCC	0.602													G	30732958	A	G	30732958	3	3	96	1	0	0	0	0	1	0	0	0	15819	275	10	3	1676	3	TGFBR2	3	30732958	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2364622	30732958	167289472	228	63190											
OSBPL10	114884	broad.mit.edu	37	chr3	31725256	31725256	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgggtgggtgatgggacacTtgctcagccacaaaccttag	13	9	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:31725256T>G	uc003cev.2	-	9	1977	c.1596A>C	c.(1594-1596)CAA>CAC	p.Q532H	OSBPL10_uc003ceu.1_Missense_Mutation_p.Q289H|OSBPL10_uc011axf.1_Missense_Mutation_p.Q468H	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	532					lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)		GATGGGACACTTGCTCAGCCA	0.527													G	31725256	T	G	31725256	3	3	96	1	0	0	0	0	1	0	0	0	11275	1606	56	5	718	5	OSBPL10	3	31725256	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	992298	31725256	166297174	229	63191											
TRIM71	131405	broad.mit.edu	37	chr3	32860404	32860404	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgagcgcctcggcttcTgccagcaccacgacgacgag	11	17	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:32860404T>A	uc003cff.2	+	1	895	c.832T>A	c.(832-834)TGC>AGC	p.C278S		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	278	B box-type 2.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						CCTCGGCTTCTGCCAGCACCA	0.677													A	32860404	T	A	32860404	3	1	96	1	0	0	0	0	1	0	0	0	16541	1580	55	5	834	5	TRIM71	3	32860404	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1135148	32860404	165162026	230	63192											
CLASP2	23122	broad.mit.edu	37	chr3	33648173	33648173	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaagtaagtttgaagactcTtctgataagatggctcaagg	10	5	3	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:33648173T>C	uc003cfu.2	-	16	1958	c.1604A>G	c.(1603-1605)AAG>AGG	p.K535R	CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc003cfv.2_Missense_Mutation_p.K308R|CLASP2_uc011axu.1_Missense_Mutation_p.K312R|CLASP2_uc003cfw.2_Missense_Mutation_p.K308R|CLASP2_uc011axt.1_Missense_Mutation_p.K110R	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	CLIP-associating protein 2	536										ovary(3)|central_nervous_system(1)	4						TTGAAGACTCTTCTGATAAGA	0.398													C	33648173	T	C	33648173	3	2	96	1	0	0	0	0	1	0	0	0	3455	1609	56	3	3008	3	CLASP2	3	33648173	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	787769	33648173	164374257	231	63193											
GOLGA4	2803	broad.mit.edu	37	chr3	37368464	37368464	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcttggaagaaaaacttaAgtcagtggaaagttcacagt	9	6	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:37368464A>C	uc003cgv.2	+	14	5391	c.5087A>C	c.(5086-5088)AAG>ACG	p.K1696T	GOLGA4_uc010hgr.1_Missense_Mutation_p.K1257T|GOLGA4_uc003cgw.2_Missense_Mutation_p.K1718T|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.K1577T	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	1696	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						GAAAAACTTAAGTCAGTGGAA	0.373													C	37368464	A	C	37368464	3	2	96	1	0	0	0	0	1	0	0	0	6555	72	3	5	5211	5	GOLGA4	3	37368464	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3720291	37368464	160653966	232	63194											
XYLB	9942	broad.mit.edu	37	chr3	38454461	38454461	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcccccagtatgccaaacTcgagcagagaatcttgtctc	7	14	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:38454461T>C	uc003cic.2	+	19	1677	c.1568T>C	c.(1567-1569)CTC>CCC	p.L523P	XYLB_uc011ayp.1_Missense_Mutation_p.L386P	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	523					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TATGCCAAACTCGAGCAGAGA	0.537													C	38454461	T	C	38454461	3	2	96	1	0	0	0	0	1	0	0	0	17459	1551	54	3	1642	3	XYLB	3	38454461	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1085997	38454461	159567969	233	63195											
SCN10A	6336	broad.mit.edu	37	chr3	38835305	38835305	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgggagctcaccatagAacttgggcagctggttgcag	14	10	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:38835305A>G	uc003ciq.2	-	1	197	c.197T>C	c.(196-198)TTC>TCC	p.F66S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	66					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTCACCATAGAACTTGGGCAG	0.547													G	38835305	A	G	38835305	3	3	96	1	0	0	0	0	1	0	0	0	13912	246	9	3	5781	3	SCN10A	3	38835305	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	380844	38835305	159187125	234	63196											
SCN11A	11280	broad.mit.edu	37	chr3	38926878	38926878	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctacattctgatagtatacTggtaacatcagacttctgca	7	9	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:38926878T>A	uc011ays.1	-	17	3164	c.2965A>T	c.(2965-2967)AGT>TGT	p.S989C	SCN11A_uc010hhn.1_Missense_Mutation_p.S67C	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	989					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GATAGTATACTGGTAACATCA	0.428													A	38926878	T	A	38926878	3	1	96	1	0	0	0	0	1	0	0	0	13913	1580	55	5	2450	5	SCN11A	3	38926878	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	91573	38926878	159095552	235	63197											
SCN11A	11280	broad.mit.edu	37	chr3	38936103	38936103	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatcttcctcctccgcaAgtggtgccaaccaagtccaa	7	16	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:38936103A>C	uc011ays.1	-	15	2955	c.2756T>G	c.(2755-2757)CTT>CGT	p.L919R	SCN11A_uc010hhn.1_Missense_Mutation_p.L35R	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	919					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTCCTCCGCAAGTGGTGCCAA	0.498													C	38936103	A	C	38936103	3	2	96	1	0	0	0	0	1	0	0	0	13913	72	3	5	2667	5	SCN11A	3	38936103	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	9225	38936103	159086327	236	63198											
SCN11A	11280	broad.mit.edu	37	chr3	38968335	38968335	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccagccagttccatggatcTcgaaggaaagaaaactcatc	8	11	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:38968335T>A	uc011ays.1	-	4	775	c.576A>T	c.(574-576)CGA>CGT	p.R192R		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	192	I.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCCATGGATCTCGAAGGAAAG	0.373													A	38968335	T	A	38968335	2	1	96	1	0	0	0	0	0	0	0	1	13913	1538	54	5		5	SCN11A	3	38968335	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	32232	38968335	159054095	237	63199											
ZNF621	285268	broad.mit.edu	37	chr3	40574022	40574022	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcatacctgcagcatcAgagattacacacgggagaga	12	10	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:40574022A>G	uc003ckm.2	+	5	977	c.761A>G	c.(760-762)CAG>CGG	p.Q254R	ZNF621_uc003ckn.2_Missense_Mutation_p.Q254R|ZNF621_uc003cko.2_Missense_Mutation_p.Q219R|ZNF621_uc011aze.1_Missense_Mutation_p.Q246R	NM_001098414	NP_001091884	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	254	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CTGCAGCATCAGAGATTACAC	0.443													G	40574022	A	G	40574022	3	3	96	1	0	0	0	0	1	0	0	0	18042	188	7	3	775	3	ZNF621	3	40574022	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1605687	40574022	157448408	238	63200											
CTNNB1	1499	broad.mit.edu	37	chr3	41266097	41266097	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggcagcaacagtcttacctgGactctggaatccattctggt	10	11	3	0	rs28931588		TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:41266097G>C	uc010hia.1	+	4	250	c.94G>C	c.(94-96)GAC>CAC	p.D32H	CTNNB1_uc003ckp.2_Missense_Mutation_p.D32H|CTNNB1_uc003ckq.2_Missense_Mutation_p.D32H|CTNNB1_uc003ckr.2_Missense_Mutation_p.D32H|CTNNB1_uc011azf.1_Missense_Mutation_p.D25H|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	32			Missing (in hepatocellular carcinoma).|D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.D32Y(110)|p.A5_A80del(63)|p.D32N(58)|p.D32G(53)|p.D32H(37)|p.D32V(20)|p.D32A(12)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.WQQQSYLD25?(5)|p.Q28_H134del(5)|p.W25_D32del(4)|p.W25_I140del(4)|p.S23_S33del(3)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32E(2)|p.D32_S47del(2)|p.W25_H36del(2)|p.Y30_S33del(2)|p.V22_S33del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S29_H36del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.W25_I35del(1)|p.V22_G80>NNNNN(1)|p.A5_I35del(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.D32del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.D32_H36>D(1)|p.P16_K133del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.V22_Y64del(1)|p.M8_A80del(1)|p.E9_I140del(1)|p.D32_S33insS(1)|p.Y30_T40del(1)|p.M1_T42del(1)|p.A5_Q143>E(1)|p.A5_Q72del(1)|p.Q28_D32>H(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.S23_I35del(1)|p.V22_S71>A(1)|p.W25_A80del(1)|p.A20_Q72del(1)|p.A20_S111del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GTCTTACCTGGACTCTGGAAT	0.478	D32N(KE39_STOMACH)	15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				C	41266097	G	C	41266097	3	2	96	1	0	0	0	0	1	0	0	0	4016	1174	41	5	100	5	CTNNB1	3	41266097	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	692075	41266097	156756333	239	63201											
ZNF662	389114	broad.mit.edu	37	chr3	42956217	42956217	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaactcataatggagagAaggtctatggatgtaaggaa	12	3	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:42956217A>C	uc003cmi.2	+	5	1004	c.652A>C	c.(652-654)AAG>CAG	p.K218Q	ZNF662_uc003cmk.2_Missense_Mutation_p.K244Q|ZNF662_uc003cmj.2_Missense_Mutation_p.K110Q	NM_207404	NP_997287	Q6ZS27	ZN662_HUMAN	zinc finger protein 662 isoform 1	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TAATGGAGAGAAGGTCTATGG	0.383													C	42956217	A	C	42956217	3	2	96	1	0	0	0	0	1	0	0	0	18068	247	9	5	853	5	ZNF662	3	42956217	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1690120	42956217	155066213	240	63202											
ZNF501	115560	broad.mit.edu	37	chr3	44776252	44776252	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgcaatgaatgtggaaaAgccttttgtcagagcccatc	9	8	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:44776252A>C	uc003cnu.1	+	3	740	c.339A>C	c.(337-339)AAA>AAC	p.K113N	ZNF501_uc003cnv.1_Missense_Mutation_p.K113N	NM_145044	NP_659481	Q96CX3	ZN501_HUMAN	zinc finger protein 501	113	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		AATGTGGAAAAGCCTTTTGTC	0.388													C	44776252	A	C	44776252	3	2	96	1	0	0	0	0	1	0	0	0	17946	69	3	5	341	5	ZNF501	3	44776252	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1820035	44776252	153246178	241	63203											
LARS2	23395	broad.mit.edu	37	chr3	45557745	45557745	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgctgcccctcctgagaAggatatcttgtgggatgtga	12	8	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:45557745A>C	uc003cop.1	+	17	2206	c.2021A>C	c.(2020-2022)AAG>ACG	p.K674T	LARS2_uc010hit.1_Missense_Mutation_p.K631T	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	674					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CCTCCTGAGAAGGATATCTTG	0.488													C	45557745	A	C	45557745	3	2	96	1	0	0	0	0	1	0	0	0	8635	72	3	5	2079	5	LARS2	3	45557745	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	781493	45557745	152464685	242	63204											
SLC6A20	54716	broad.mit.edu	37	chr3	45811859	45811859	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtgttggtcagcagcagacTcaccctgcagagcagaccat	11	12	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:45811859T>A	uc011bai.1	-	7	1064	c.940A>T	c.(940-942)AGT>TGT	p.S314C	SLC6A20_uc003cow.2_5'UTR|SLC6A20_uc011baj.1_Missense_Mutation_p.S277C	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	solute carrier family 6, member 20 isoform 1	314	Extracellular (Potential).				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AGCAGCAGACTCACCCTGCAG	0.527													A	45811859	T	A	45811859	3	1	96	1	0	0	0	0	1	0	0	0	14684	1551	54	5	858	5	SLC6A20	3	45811859	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	254114	45811859	152210571	243	63205											
SETD2	29072	broad.mit.edu	37	chr3	47142946	47142946	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattagtagaaacaatacttAcccatatctctggaactgat	5	8	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:47142946A>G	uc003cqs.2	-	8	5068	c.5015_splice	c.e8+1	p.G1672_splice	SETD2_uc003cqv.2_Splice_Site_p.G1739_splice	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AACAATACTTACCCATATCTC	0.358			N|F|S|Mis		clear cell renal carcinoma								G	47142946	A	G	47142946	5	3	96	1	0	0	0	0	0	0	1	0	14131	405	14	3	2733	3	SETD2	3	47142946	Splice_Site	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1331087	47142946	150879484	244	63206											
DHX30	22907	broad.mit.edu	37	chr3	47890551	47890551	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaacctgctgtacgcacccAgcctgcgcttcatccacggt	8	16	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:47890551A>T	uc003cru.2	+	18	3337	c.2911A>T	c.(2911-2913)AGC>TGC	p.S971C	DHX30_uc003crt.2_Missense_Mutation_p.S932C|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	971						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GTACGCACCCAGCCTGCGCTT	0.657													T	47890551	A	T	47890551	3	4	96	1	0	0	0	0	1	0	0	0	4504	188	7	5	2984	5	DHX30	3	47890551	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	747605	47890551	150131879	245	63207											
CELSR3	1951	broad.mit.edu	37	chr3	48699754	48699754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatccccagctcctcattcGgctgctcagggggccctcga	10	17	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:48699754G>A	uc003cul.2	-	1	595	c.314C>T	c.(313-315)CCG>CTG	p.P105L	CELSR3_uc003cuf.1_Missense_Mutation_p.P175L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	105	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCCTCATTCGGCTGCTCAGG	0.652													A	48699754	G	A	48699754	3	1	96	1	0	0	0	0	1	0	0	0	3223	1116	39	1	9764	1	CELSR3	3	48699754	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	809203	48699754	149322676	246	63208											
NCKIPSD	51517	broad.mit.edu	37	chr3	48717555	48717555	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctcatatagtgcccaActgcgctgctgggcgtcgtc	10	14	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:48717555A>C	uc003cun.2	-	6	1294	c.1200T>G	c.(1198-1200)AGT>AGG	p.S400R	NCKIPSD_uc003cum.2_Missense_Mutation_p.S393R	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain isoform	400					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATAGTGCCCAACTGCGCTGCT	0.617													C	48717555	A	C	48717555	3	2	96	1	0	0	0	0	1	0	0	0	10225	40	2	5	1000	5	NCKIPSD	3	48717555	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	17801	48717555	149304875	247	63209											
MST1R	4486	broad.mit.edu	37	chr3	49940444	49940444	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggctgcgtccagtgaggatGccacgtagaaataggaggcc	15	10	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:49940444G>C	uc003cxy.3	-	1	863	c.599C>G	c.(598-600)GCA>GGA	p.A200G	MST1R_uc011bdd.1_Missense_Mutation_p.A200G|MST1R_uc011bde.1_Missense_Mutation_p.A200G|MST1R_uc011bdf.1_Missense_Mutation_p.A200G|MST1R_uc011bdg.1_Missense_Mutation_p.A200G	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	200	Extracellular (Potential).|Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAGTGAGGATGCCACGTAGAA	0.622													C	49940444	G	C	49940444	3	2	96	1	0	0	0	0	1	0	0	0	9891	1319	46	5	3683	5	MST1R	3	49940444	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	1222889	49940444	148081986	248	63210											
HEMK1	51409	broad.mit.edu	37	chr3	50608706	50608706	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctttgagaagaggggtatCcctgaggcccgggaatccag	15	9	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:50608706C>T	uc003dau.2	+	2	467	c.171C>T	c.(169-171)ATC>ATT	p.I57I	C3orf18_uc003dat.2_5'Flank|HEMK1_uc003dav.2_Silent_p.I57I|HEMK1_uc003daw.2_Silent_p.I57I	NM_016173	NP_057257	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	57					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		AGAGGGGTATCCCTGAGGCCC	0.552													T	50608706	C	T	50608706	2	4	96	1	0	0	0	0	0	0	0	1	7051	845	30	4		4	HEMK1	3	50608706	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	668262	50608706	147413724	249	63211											
RAD54L2	23132	broad.mit.edu	37	chr3	51671359	51671359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtactggtgcatggtggacTttgtgcgcccagacttcctt	12	10	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:51671359T>C	uc011bdt.1	+	10	1647	c.1522T>C	c.(1522-1524)TTT>CTT	p.F508L	RAD54L2_uc003dbh.2_Missense_Mutation_p.F99L|RAD54L2_uc011bdu.1_Missense_Mutation_p.F202L|RAD54L2_uc003dbj.2_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	508	Helicase ATP-binding.					nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CATGGTGGACTTTGTGCGCCC	0.552													C	51671359	T	C	51671359	3	2	96	1	0	0	0	0	1	0	0	0	12994	1609	56	3	1556	3	RAD54L2	3	51671359	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1062653	51671359	146351071	250	63212											
RAD54L2	23132	broad.mit.edu	37	chr3	51697390	51697390	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttgggttcagctccaatgAtgatgaggataaagacgatg	14	5	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:51697390A>C	uc011bdt.1	+	22	4483	c.4358A>C	c.(4357-4359)GAT>GCT	p.D1453A	RAD54L2_uc003dbh.2_Missense_Mutation_p.D1042A|RAD54L2_uc011bdu.1_Missense_Mutation_p.D1147A|RAD54L2_uc003dbj.2_Missense_Mutation_p.D779A	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	1453						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AGCTCCAATGATGATGAGGAT	0.577													C	51697390	A	C	51697390	3	2	96	1	0	0	0	0	1	0	0	0	12994	333	12	5	4440	5	RAD54L2	3	51697390	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	26031	51697390	146325040	251	63213											
RRP9	9136	broad.mit.edu	37	chr3	51969429	51969429	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtcccatcccggcccccAgccgtcacacagcactcccg	7	22	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:51969429A>G	uc003dbw.1	-	10	939	c.900T>C	c.(898-900)GCT>GCC	p.A300A		NM_004704	NP_004695	O43818	U3IP2_HUMAN	RNA, U3 small nucleolar interacting protein 2	300	WD 4.				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CCCGGCCCCCAGCCGTCACAC	0.642													G	51969429	A	G	51969429	2	3	96	1	0	0	0	0	0	0	0	1	13691	175	7	3		3	RRP9	3	51969429	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	272039	51969429	146053001	252	63214											
BAP1	8314	broad.mit.edu	37	chr3	52437539	52437539	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtagcgtatgcagtcaAcacgcagcaggctgtcatcc	12	11	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:52437539A>C	uc003ddx.2	-	13	1737	c.1622T>G	c.(1621-1623)GTT>GGT	p.V541G	BAP1_uc003ddw.2_RNA|BAP1_uc010hmg.2_RNA|BAP1_uc010hmh.2_Intron	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	541					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TATGCAGTCAACACGCAGCAG	0.627			N|Mis|F|S|O		uveal melanoma|breast|NSCLC								C	52437539	A	C	52437539	3	2	96	1	0	0	0	0	1	0	0	0	1311	43	2	5	587	5	BAP1	3	52437539	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	468110	52437539	145584891	253	63215											
PBRM1	55193	broad.mit.edu	37	chr3	52620677	52620677	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacatcctcatctcggaAgttttctgggcataacttaa	6	9	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:52620677A>C	uc003des.2	-	20	3163	c.3151T>G	c.(3151-3153)TTC>GTC	p.F1051V	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.F1051V|PBRM1_uc003der.2_Missense_Mutation_p.F1019V|PBRM1_uc003det.2_Missense_Mutation_p.F1066V|PBRM1_uc003deu.2_Missense_Mutation_p.F1066V|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.F1051V|PBRM1_uc010hmk.1_Missense_Mutation_p.F1026V|PBRM1_uc003dey.2_Missense_Mutation_p.F1026V|PBRM1_uc003dez.1_Missense_Mutation_p.F1050V|PBRM1_uc003dfb.1_Missense_Mutation_p.F963V|PBRM1_uc003dfa.1_Missense_Mutation_p.F397V	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	1051	BAH 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCATCTCGGAAGTTTTCTGGG	0.373			Mis|N|F|S|D|O		clear cell renal carcinoma|breast								C	52620677	A	C	52620677	3	2	96	1	0	0	0	0	1	0	0	0	11491	72	3	5	1793	5	PBRM1	3	52620677	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	183138	52620677	145401753	254	63216											
NEK4	6787	broad.mit.edu	37	chr3	52780851	52780851	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggaaggttcagacccagAgttgtgtggctgtaaatctg	14	7	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:52780851A>G	uc003dfq.3	-	9	1765	c.1576T>C	c.(1576-1578)TCT>CCT	p.S526P	NEK4_uc011bej.1_Missense_Mutation_p.S437P|NEK4_uc003dfr.2_Missense_Mutation_p.S480P	NM_003157	NP_003148	P51957	NEK4_HUMAN	NIMA-related kinase 4	526					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TCAGACCCAGAGTTGTGTGGC	0.443													G	52780851	A	G	52780851	3	3	96	1	0	0	0	0	1	0	0	0	10326	304	11	3	981	3	NEK4	3	52780851	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	160174	52780851	145241579	255	63217											
TKT	7086	broad.mit.edu	37	chr3	53274289	53274289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttgtcgaagtatttgcCggtgtaggccatcccacaag	12	11	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:53274289C>T	uc003dgo.2	-	4	525	c.415G>A	c.(415-417)GGC>AGC	p.G139S	TKT_uc011beo.1_Missense_Mutation_p.G92S|TKT_uc003dgq.2_Missense_Mutation_p.G139S|TKT_uc011beq.1_Missense_Mutation_p.G139S|TKT_uc011ber.1_5'UTR|TKT_uc011bep.1_Missense_Mutation_p.G56S	NM_001135055	NP_001128527	P29401	TKT_HUMAN	transketolase isoform 1	139					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			ovary(2)	2		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	AAGTATTTGCCGGTGTAGGCC	0.602													T	53274289	C	T	53274289	3	4	96	1	0	0	0	0	1	0	0	0	15931	652	23	1	1500	1	TKT	3	53274289	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	493438	53274289	144748141	256	63218											
PXK	54899	broad.mit.edu	37	chr3	58377558	58377558	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagtgtctaatcaaacTtctgccttcttgtttggtga	7	8	5	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:58377558T>G	uc003djz.1	+	7	698	c.599T>G	c.(598-600)CTT>CGT	p.L200R	PXK_uc003djx.1_Missense_Mutation_p.L200R|PXK_uc003djy.1_Missense_Mutation_p.L183R|PXK_uc003dka.1_Missense_Mutation_p.L200R|PXK_uc003dkb.1_Missense_Mutation_p.L117R|PXK_uc003dkc.1_Missense_Mutation_p.L183R|PXK_uc011bfe.1_Missense_Mutation_p.L167R|PXK_uc010hnj.1_Missense_Mutation_p.L167R|PXK_uc003dkd.1_Missense_Mutation_p.L63R|PXK_uc010hnk.1_Intron	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	200	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CTAATCAAACTTCTGCCTTCT	0.403													G	58377558	T	G	58377558	3	3	96	1	0	0	0	0	1	0	0	0	12849	1609	56	5	625	5	PXK	3	58377558	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5103269	58377558	139644872	257	63219											
ACOX2	8309	broad.mit.edu	37	chr3	58519189	58519189	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacagtctccaggccaccatTtggtggcagtcagcgtgggg	14	12	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:58519189T>A	uc003dkl.2	-	5	741	c.566A>T	c.(565-567)AAA>ATA	p.K189I		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	acyl-Coenzyme A oxidase 2	189					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		AGGCCACCATTTGGTGGCAGT	0.438											OREG0015638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	58519189	T	A	58519189	3	1	96	1	0	0	0	0	1	0	0	0	159	1841	64	5	1523	5	ACOX2	3	58519189	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	141631	58519189	139503241	258	63220											
TMF1	7110	broad.mit.edu	37	chr3	69096977	69096977	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagatgcagagagaagctgAaaagatgtctgcatcaagtg	13	6	2	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:69096977A>C	uc003dnn.2	-	2	1126	c.879T>G	c.(877-879)TTT>TTG	p.F293L	TMF1_uc011bfx.1_Missense_Mutation_p.F293L	NM_007114	NP_009045	P82094	TMF1_HUMAN	TATA element modulatory factor 1	293					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity				0		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		AGAGAAGCTGAAAAGATGTCT	0.378													C	69096977	A	C	69096977	3	2	96	1	0	0	0	0	1	0	0	0	16225	243	9	5	2466	5	TMF1	3	69096977	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	10577788	69096977	128925453	259	63221											
CNTN3	5067	broad.mit.edu	37	chr3	74418407	74418407	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaatgcattcataggaAcctgcatcttcctgttggaa	8	10	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:74418407A>C	uc003dpm.1	-	7	959	c.879T>G	c.(877-879)GGT>GGG	p.G293G		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	293	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ATTCATAGGAACCTGCATCTT	0.428													C	74418407	A	C	74418407	2	2	96	1	0	0	0	0	0	0	0	1	3642	30	2	5		5	CNTN3	3	74418407	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	5321430	74418407	123604023	260	63222											
ROBO1	6091	broad.mit.edu	37	chr3	78655933	78655933	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcgttttgctgccttgTttccacgtcctttcccgtca	8	14	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:78655933T>C	uc003dqe.2	-	29	4902	c.4694A>G	c.(4693-4695)AAC>AGC	p.N1565S	ROBO1_uc003dqb.2_Missense_Mutation_p.N1526S|ROBO1_uc003dqc.2_Missense_Mutation_p.N1465S|ROBO1_uc003dqd.2_Missense_Mutation_p.N1520S|ROBO1_uc010hoh.2_Missense_Mutation_p.N757S|ROBO1_uc011bgl.1_Missense_Mutation_p.N1137S	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1565	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGCTGCCTTGTTTCCACGTCC	0.453													C	78655933	T	C	78655933	3	2	96	1	0	0	0	0	1	0	0	0	13513	1725	60	3	273	3	ROBO1	3	78655933	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4237526	78655933	119366497	261	63223											
ROBO1	6091	broad.mit.edu	37	chr3	78735060	78735060	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggttgatatgagaaaAgtagattctagaacccagaa	12	4	1	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:78735060A>C	uc003dqe.2	-	10	1386	c.1178T>G	c.(1177-1179)CTT>CGT	p.L393R	ROBO1_uc003dqb.2_Missense_Mutation_p.L354R|ROBO1_uc003dqc.2_Missense_Mutation_p.L357R|ROBO1_uc003dqd.2_Missense_Mutation_p.L357R|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc003dqf.1_Missense_Mutation_p.L72R	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	393	Extracellular (Potential).|Ig-like C2-type 4.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATATGAGAAAAGTAGATTCTA	0.348													C	78735060	A	C	78735060	3	2	96	1	0	0	0	0	1	0	0	0	13513	72	3	5	3865	5	ROBO1	3	78735060	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	79127	78735060	119287370	262	63224											
CADM2	253559	broad.mit.edu	37	chr3	86028312	86028312	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atattttttttccactcaccAgatgttcccaacactttgct	3	12	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:86028312A>G	uc003dqj.2	+	8	1570	c.944_splice	c.e8-2	p.D315_splice	CADM2_uc003dqk.2_Intron|CADM2_uc003dql.2_Splice_Site_p.D317_splice	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D						adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TCCACTCACCAGATGTTCCCA	0.368													G	86028312	A	G	86028312	5	3	96	1	0	0	0	0	0	0	1	0	2567	202	7	3	1043	3	CADM2	3	86028312	Splice_Site	SNP	A	TCGA-BR-8589-01A-11D-2394-08	7293252	86028312	111994118	263	63225											
EPHA3	2042	broad.mit.edu	37	chr3	89176368	89176368	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttattttagtcaatctacTggattcaaaaacaattcaag	4	6	4	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:89176368T>G	uc003dqy.2	+	2	323	c.98T>G	c.(97-99)CTG>CGG	p.L33R	EPHA3_uc003dqx.1_Missense_Mutation_p.L33R|EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	33	Extracellular (Potential).					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTCAATCTACTGGATTCAAAA	0.338										TSP Lung(6;0.00050)			G	89176368	T	G	89176368	3	3	96	1	0	0	0	0	1	0	0	0	5168	1580	55	5	104	5	EPHA3	3	89176368	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3148056	89176368	108846062	264	63226											
ARL13B	200894	broad.mit.edu	37	chr3	93761872	93761872	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgttagaatgaaggaaaacTtgaaagagagaaaaaaaacc	9	3	0	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:93761872T>C	uc003drc.2	+	7	1098	c.812T>C	c.(811-813)CTT>CCT	p.L271P	ARL13B_uc010hop.2_Missense_Mutation_p.L122P|ARL13B_uc003drd.2_Missense_Mutation_p.L164P|ARL13B_uc003dre.2_Missense_Mutation_p.L256P|ARL13B_uc003drf.2_Missense_Mutation_p.L271P|ARL13B_uc003drg.2_Missense_Mutation_p.L168P	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 2-like 1 isoform 1	271							GTP binding				0						GAAGGAAAACTTGAAAGAGAG	0.333													C	93761872	T	C	93761872	3	2	96	1	0	0	0	0	1	0	0	0	929	1609	56	3	838	3	ARL13B	3	93761872	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4585504	93761872	104260558	265	63227											
CRYBG3	131544	broad.mit.edu	37	chr3	97596378	97596378	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accatggccccaggaaatcaAgagacagtgaaaaccagtcc	9	12	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:97596378A>T	uc003drx.2	+	1	560	c.496A>T	c.(496-498)AGA>TGA	p.R166*		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						CAGGAAATCAAGAGACAGTGA	0.438													T	97596378	A	T	97596378	4	4	96	1	0	0	0	0	0	1	0	0	3913	64	3	5	498	5	CRYBG3	3	97596378	Nonsense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3834506	97596378	100426052	266	63228											
OR5H6	79295	broad.mit.edu	37	chr3	97983357	97983357	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accttcatatcccaatgtacTtattccttgggagtttagcc	6	11	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:97983357T>G	uc003dsi.1	+	1	229	c.229T>G	c.(229-231)TTA>GTA	p.L77V		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H,	77	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|large_intestine(1)	3						CCCAATGTACTTATTCCTTGG	0.413													G	97983357	T	G	97983357	3	3	96	1	0	0	0	0	1	0	0	0	11163	1606	56	5	231	5	OR5H6	3	97983357	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	386979	97983357	100039073	267	63229											
ABI3BP	25890	broad.mit.edu	37	chr3	100595371	100595371	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attaccttgcttgatgattgTtattgggattagtttccttg	9	5	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:100595371T>G	uc003dun.2	-	7	836	c.751A>C	c.(751-753)ACA>CCA	p.T251P	ABI3BP_uc003duo.2_Missense_Mutation_p.T244P|ABI3BP_uc003dup.3_Missense_Mutation_p.T244P	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	251						extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						TTGATGATTGTTATTGGGATT	0.353													G	100595371	T	G	100595371	3	3	96	1	0	0	0	0	1	0	0	0	91	1725	60	5	2592	5	ABI3BP	3	100595371	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2612014	100595371	97427059	268	63230											
IMPG2	50939	broad.mit.edu	37	chr3	100963575	100963575	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacaggttgagtgaatgaacTtgaaggcaatgaatcaatag	11	5	1	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:100963575T>A	uc003duq.1	-	13	1803	c.1600A>T	c.(1600-1602)AGT>TGT	p.S534C	IMPG2_uc011bhe.1_Missense_Mutation_p.S397C	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	534	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GTGAATGAACTTGAAGGCAAT	0.348													A	100963575	T	A	100963575	3	1	96	1	0	0	0	0	1	0	0	0	7729	1609	56	5	2153	5	IMPG2	3	100963575	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	368204	100963575	97058855	269	63231											
CBLB	868	broad.mit.edu	37	chr3	105378018	105378018	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggttttctgtggtgaatttcTggtgcagtcctgcgcggtcg	15	8	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:105378018T>A	uc003dwc.2	-	19	3067	c.2745A>T	c.(2743-2745)CCA>CCT	p.P915P	CBLB_uc003dwa.2_Silent_p.P130P|CBLB_uc011bhi.1_Silent_p.P893P	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	915	Pro-rich.|Interaction with SH3KBP1.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			lung(4)|ovary(3)|breast(1)|skin(1)	9						GGTGAATTTCTGGTGCAGTCC	0.463			Mis S		AML								A	105378018	T	A	105378018	2	1	96	1	0	0	0	0	0	0	0	1	2701	1567	55	5		5	CBLB	3	105378018	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4414443	105378018	92644412	270	63232											
CCDC54	84692	broad.mit.edu	37	chr3	107097406	107097406	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgttccttaaaagaagaAgtaactcgactatagagtta	7	5	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:107097406A>C	uc003dwi.1	+	1	1219	c.972A>C	c.(970-972)GAA>GAC	p.E324D		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	324											0						TAAAAGAAGAAGTAACTCGAC	0.403													C	107097406	A	C	107097406	3	2	96	1	0	0	0	0	1	0	0	0	2824	69	3	5	974	5	CCDC54	3	107097406	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1719388	107097406	90925024	271	63233											
KIAA2018	205717	broad.mit.edu	37	chr3	113375311	113375311	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctgttgactagctccacTtggtttaaacgtctgacaat	10	9	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:113375311T>G	uc003eam.2	-	7	5629	c.5218A>C	c.(5218-5220)AGT>CGT	p.S1740R	KIAA2018_uc003eal.2_Missense_Mutation_p.S1684R	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1740					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						CTAGCTCCACTTGGTTTAAAC	0.428													G	113375311	T	G	113375311	3	3	96	1	0	0	0	0	1	0	0	0	8268	1609	56	5	1523	5	KIAA2018	3	113375311	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	6277905	113375311	84647119	272	63234											
IGSF11	152404	broad.mit.edu	37	chr3	118645003	118645003	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaacttctcccaaaggtaAgttggtcgaggaatgccttc	9	10	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:118645003A>C	uc003ebw.2	-	4	772	c.525T>G	c.(523-525)ACT>ACG	p.T175T	IGSF11_uc011biv.1_Silent_p.T175T|IGSF11_uc003ebx.2_Silent_p.T175T|IGSF11_uc003eby.2_Silent_p.T174T|IGSF11_uc003ebz.2_Silent_p.T174T|IGSF11_uc010hqs.2_Silent_p.T174T	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	175	Ig-like C2-type.|Extracellular (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0						CCCAAAGGTAAGTTGGTCGAG	0.478													C	118645003	A	C	118645003	2	2	96	1	0	0	0	0	0	0	0	1	7598	59	3	5		5	IGSF11	3	118645003	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	5269692	118645003	79377427	273	63235											
B4GALT4	8702	broad.mit.edu	37	chr3	118948756	118948756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcgtggatgcttcattaGtcagagtttttcccttcccc	7	12	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:118948756G>A	uc003ecg.2	-	3	832	c.191C>T	c.(190-192)ACT>ATT	p.T64I	B4GALT4_uc003ece.1_Missense_Mutation_p.T64I|B4GALT4_uc003ecf.2_RNA|B4GALT4_uc003ech.2_Missense_Mutation_p.T64I|B4GALT4_uc003eci.2_Missense_Mutation_p.T64I|B4GALT4_uc011biy.1_Intron	NM_212543	NP_997708	O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	64	Lumenal (Potential).				membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity				0				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	TGCTTCATTAGTCAGAGTTTT	0.413													A	118948756	G	A	118948756	3	1	96	1	0	0	0	0	1	0	0	0	1273	1029	36	4	867	4	B4GALT4	3	118948756	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	303753	118948756	79073674	274	63236											
C3orf15	89876	broad.mit.edu	37	chr3	119426380	119426380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagggacataaggagaaaCacagagaagccctccggcag	14	9	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:119426380C>T	uc010hqx.1	+	3	408	c.331C>T	c.(331-333)CAC>TAC	p.H111Y	C3orf15_uc003edc.2_Missense_Mutation_p.H111Y|C3orf15_uc010hqy.1_Missense_Mutation_p.H111Y|C3orf15_uc003ede.3_Missense_Mutation_p.H111Y|C3orf15_uc010hqz.2_Missense_Mutation_p.H49Y|C3orf15_uc011bjd.1_Intron|C3orf15_uc011bje.1_Missense_Mutation_p.H91Y|C3orf15_uc010hra.1_5'UTR			Q7Z4T9	AAT1_HUMAN	RecName: Full=AMY-1-associating protein expressed in testis 1;          Short=AAT-1;	111						mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)		TAAGGAGAAACACAGAGAAGC	0.438													T	119426380	C	T	119426380	3	4	96	1	0	0	0	0	1	0	0	0	2209	478	17	4	341	4	C3orf15	3	119426380	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	477624	119426380	78596050	275	63237											
POLQ	10721	broad.mit.edu	37	chr3	121238762	121238762	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagcacggccaaccatctgcTtataagtaagaatatctaga	7	10	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:121238762T>A	uc003eee.3	-	9	1553	c.1424A>T	c.(1423-1425)AAG>ATG	p.K475M		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	475	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		AACCATCTGCTTATAAGTAAG	0.438								DNA_polymerases_(catalytic_subunits)					A	121238762	T	A	121238762	3	1	96	1	0	0	0	0	1	0	0	0	12208	1609	56	5	6436	5	POLQ	3	121238762	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1812382	121238762	76783668	276	63238											
FBXO40	51725	broad.mit.edu	37	chr3	121340935	121340935	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagtttggccagtgggaaaAtattttcagcaaagagcacg	11	7	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:121340935A>C	uc003eeg.2	+	3	869	c.659A>C	c.(658-660)AAT>ACT	p.N220T		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	220					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)		CAGTGGGAAAATATTTTCAGC	0.468													C	121340935	A	C	121340935	3	2	96	1	0	0	0	0	1	0	0	0	5749	101	4	5	665	5	FBXO40	3	121340935	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	102173	121340935	76681495	277	63239											
GOLGB1	2804	broad.mit.edu	37	chr3	121414777	121414777	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttattttgagcagaaacTtggctttccacatctgccag	7	10	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:121414777T>G	uc003eei.3	-	13	4704	c.4578A>C	c.(4576-4578)CAA>CAC	p.Q1526H	GOLGB1_uc010hrc.2_Missense_Mutation_p.Q1531H|GOLGB1_uc003eej.3_Missense_Mutation_p.Q1492H|GOLGB1_uc011bjm.1_Missense_Mutation_p.Q1412H|GOLGB1_uc010hrd.1_Missense_Mutation_p.Q1490H	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	1526	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		GAGCAGAAACTTGGCTTTCCA	0.393													G	121414777	T	G	121414777	3	3	96	1	0	0	0	0	1	0	0	0	6565	1606	56	5	5241	5	GOLGB1	3	121414777	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	73842	121414777	76607653	278	63240											
GOLGB1	2804	broad.mit.edu	37	chr3	121415485	121415485	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcactcgcatcttcagaatgAgaaggccagtctgggcacaa	11	11	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:121415485A>G	uc003eei.3	-	13	3996	c.3870T>C	c.(3868-3870)TCT>TCC	p.S1290S	GOLGB1_uc010hrc.2_Silent_p.S1295S|GOLGB1_uc003eej.3_Silent_p.S1256S|GOLGB1_uc011bjm.1_Silent_p.S1176S|GOLGB1_uc010hrd.1_Silent_p.S1254S	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	1290	Cytoplasmic (Potential).				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		CTTCAGAATGAGAAGGCCAGT	0.468													G	121415485	A	G	121415485	2	3	96	1	0	0	0	0	0	0	0	1	6565	291	11	3		3	GOLGB1	3	121415485	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	708	121415485	76606945	279	63241											
EAF2	55840	broad.mit.edu	37	chr3	121573582	121573582	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggttcaaaaaaaccttacTtaaaagaatgcattttgatt	5	5	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:121573582T>C	uc003een.2	+	3	349	c.250T>C	c.(250-252)TTA>CTA	p.L84L	EAF2_uc003eeo.2_Intron	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	84	Necessary for interaction with ELL.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding				0				GBM - Glioblastoma multiforme(114;0.0972)		AAAACCTTACTTAAAAGAATG	0.299													C	121573582	T	C	121573582	2	2	96	1	0	0	0	0	0	0	0	1	4876	1606	56	3		3	EAF2	3	121573582	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	158097	121573582	76448848	280	63242											
CCDC58	131076	broad.mit.edu	37	chr3	122090532	122090532	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atacacttacagactcataaAgttgtttacaggtttggctg	8	7	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:122090532A>C	uc003eey.2	-	2	170	c.167T>G	c.(166-168)CTT>CGT	p.L56R		NM_001017928	NP_001017928	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58	56											0				GBM - Glioblastoma multiforme(114;0.148)		AGACTCATAAAGTTGTTTACA	0.373													C	122090532	A	C	122090532	3	2	96	1	0	0	0	0	1	0	0	0	2828	72	3	5	283	5	CCDC58	3	122090532	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	516950	122090532	75931898	281	63243											
PARP14	54625	broad.mit.edu	37	chr3	122418264	122418264	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccatcatggccacaaaacTcgacttcaataaaatgccac	4	14	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:122418264T>C	uc003efq.3	+	6	922	c.863T>C	c.(862-864)CTC>CCC	p.L288P	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.L5P|PARP14_uc003efs.1_Missense_Mutation_p.L5P	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		GCCACAAAACTCGACTTCAAT	0.393													C	122418264	T	C	122418264	3	2	96	1	0	0	0	0	1	0	0	0	11458	1551	54	3	885	3	PARP14	3	122418264	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	327732	122418264	75604166	282	63244											
PARP14	54625	broad.mit.edu	37	chr3	122418777	122418777	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatagaaagcactactcaaaAaattaaaagggaagagcaaa	7	5	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:122418777A>C	uc003efq.3	+	6	1435	c.1376A>C	c.(1375-1377)AAA>ACA	p.K459T	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.K176T|PARP14_uc003efs.1_Missense_Mutation_p.K176T	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		ACTACTCAAAAAATTAAAAGG	0.383													C	122418777	A	C	122418777	3	2	96	1	0	0	0	0	1	0	0	0	11458	14	1	5	1398	5	PARP14	3	122418777	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	513	122418777	75603653	283	63245											
ALDH1L1	10840	broad.mit.edu	37	chr3	125854444	125854444	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccattctcaaaggcatccTtggctgcggccactgccttg	10	14	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:125854444T>G	uc003eim.1	-	12	1596	c.1406A>C	c.(1405-1407)AAG>ACG	p.K469T	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.K368T|ALDH1L1_uc003eio.2_Missense_Mutation_p.K171T|ALDH1L1_uc010hsf.1_Missense_Mutation_p.K495T	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	469	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AAAGGCATCCTTGGCTGCGGC	0.607													G	125854444	T	G	125854444	3	3	96	1	0	0	0	0	1	0	0	0	494	1609	56	5	1350	5	ALDH1L1	3	125854444	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3435667	125854444	72167986	284	63246											
KIAA1257	57501	broad.mit.edu	37	chr3	128706568	128706568	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccagagcctcaaggtgatTttgtggaaatttattttctt	8	6	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:128706568T>C	uc003elj.3	-	4	754	c.558A>G	c.(556-558)AAA>AAG	p.K186K	KIAA1257_uc003elg.1_Silent_p.K186K|KIAA1257_uc003eli.3_Silent_p.K74K	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	hypothetical protein LOC57501	186											0						TCAAGGTGATTTTGTGGAAAT	0.428													C	128706568	T	C	128706568	2	2	96	1	0	0	0	0	0	0	0	1	8218	1838	64	3		3	KIAA1257	3	128706568	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2852124	128706568	69315862	285	63247											
IFT122	55764	broad.mit.edu	37	chr3	129195557	129195557	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctaccagcttattttcagcAcagtccatgggctttacaag	7	11	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:129195557A>G	uc003emm.2	+	11	1266	c.1060A>G	c.(1060-1062)ACA>GCA	p.T354A	IFT122_uc003eml.2_Missense_Mutation_p.T405A|IFT122_uc003emn.2_Missense_Mutation_p.T295A|IFT122_uc003emo.2_Missense_Mutation_p.T243A|IFT122_uc003emp.2_Missense_Mutation_p.T204A|IFT122_uc010htc.2_Missense_Mutation_p.T346A|IFT122_uc011bky.1_Missense_Mutation_p.T145A|IFT122_uc003emq.2_Missense_Mutation_p.T194A|IFT122_uc003emr.2_Missense_Mutation_p.T145A|IFT122_uc011bla.1_Missense_Mutation_p.T145A|IFT122_uc011bkx.1_Missense_Mutation_p.T194A|IFT122_uc011bkz.1_RNA	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	354	WD 6.				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						TATTTTCAGCACAGTCCATGG	0.532													G	129195557	A	G	129195557	3	3	96	1	0	0	0	0	1	0	0	0	7555	159	6	3	1259	3	IFT122	3	129195557	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	488989	129195557	68826873	286	63248											
IFT122	55764	broad.mit.edu	37	chr3	129233240	129233240	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttcacggcaggaaaatacTcttcaccttggccaagcaga	9	11	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:129233240T>A	uc003emm.2	+	25	3202	c.2996T>A	c.(2995-2997)CTC>CAC	p.L999H	IFT122_uc003eml.2_Missense_Mutation_p.L1050H|IFT122_uc003emn.2_Missense_Mutation_p.L940H|IFT122_uc003emo.2_Missense_Mutation_p.L889H|IFT122_uc003emp.2_Missense_Mutation_p.L849H|IFT122_uc010htc.2_Missense_Mutation_p.L992H|IFT122_uc011bky.1_Missense_Mutation_p.L790H|IFT122_uc003emq.2_Missense_Mutation_p.L839H|IFT122_uc003emr.2_Missense_Mutation_p.L752H|IFT122_uc011bla.1_Missense_Mutation_p.L773H|IFT122_uc010hte.2_Missense_Mutation_p.L325H|IFT122_uc003ems.2_Missense_Mutation_p.L381H	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	999					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						AGGAAAATACTCTTCACCTTG	0.607													A	129233240	T	A	129233240	3	1	96	1	0	0	0	0	1	0	0	0	7555	1551	54	5	3254	5	IFT122	3	129233240	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	37683	129233240	68789190	287	63249											
TMCC1	23023	broad.mit.edu	37	chr3	129389315	129389315	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagtagtgcatcaaatcctgAgctctgcatgtccagggtgt	11	9	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:129389315A>T	uc003emz.3	-	5	1870	c.1369T>A	c.(1369-1371)TCA>ACA	p.S457T	TMCC1_uc003emy.3_Missense_Mutation_p.S133T|TMCC1_uc011blc.1_Missense_Mutation_p.S278T|TMCC1_uc010htg.2_Missense_Mutation_p.S343T	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	457						integral to membrane				skin(1)	1						TCAAATCCTGAGCTCTGCATG	0.522													T	129389315	A	T	129389315	3	4	96	1	0	0	0	0	1	0	0	0	15989	304	11	5	604	5	TMCC1	3	129389315	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	156075	129389315	68633115	288	63250											
COL6A6	131873	broad.mit.edu	37	chr3	130286941	130286941	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctggtggacagttctggaAgtataggacctgaaaacttc	11	7	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:130286941A>C	uc010htl.2	+	5	1925	c.1894A>C	c.(1894-1896)AGT>CGT	p.S632R		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	632	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						CAGTTCTGGAAGTATAGGACC	0.398													C	130286941	A	C	130286941	3	2	96	1	0	0	0	0	1	0	0	0	3703	72	3	5	1912	5	COL6A6	3	130286941	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	897626	130286941	67735489	289	63251											
ACAD11	84129	broad.mit.edu	37	chr3	132345663	132345663	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtacagtactgaaagttcTttgccaaaagaaaaaaggaa	8	5	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:132345663T>G	uc003eov.3	-	9	1451	c.1071_splice	c.e9-1	p.R357_splice	ACAD11_uc011blr.1_5'UTR|ACAD11_uc003eoy.2_Splice_Site_p.R357_splice	NM_032169	NP_115545	Q709F0	ACD11_HUMAN	putative acyl-CoA dehydrogenase							peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups			ovary(1)	1						CTGAAAGTTCTTTGCCAAAAG	0.279													G	132345663	T	G	132345663	5	3	96	1	0	0	0	0	0	0	1	0	109	1623	56	5	1321	5	ACAD11	3	132345663	Splice_Site	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2058722	132345663	65676767	290	63252											
TOPBP1	11073	broad.mit.edu	37	chr3	133339089	133339089	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttacaaccacttcttgaaAgggaagtcctctgcccttgg	9	11	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:133339089A>G	uc003eps.2	-	20	3413	c.3281T>C	c.(3280-3282)CTT>CCT	p.L1094P	TOPBP1_uc003ept.1_Missense_Mutation_p.L98P	NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1094					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						ACTTCTTGAAAGGGAAGTCCT	0.493								Other_conserved_DNA_damage_response_genes					G	133339089	A	G	133339089	3	3	96	1	0	0	0	0	1	0	0	0	16366	72	3	3	1323	3	TOPBP1	3	133339089	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	993426	133339089	64683341	291	63253											
RAB6B	51560	broad.mit.edu	37	chr3	133557075	133557075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgctcagttctttggcgcGctgctccccctcctcgatgg	11	16	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:133557075G>A	uc003epy.2	-	6	811	c.430C>T	c.(430-432)CGC>TGC	p.R144C	RAB6B_uc011blu.1_Missense_Mutation_p.R131C	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	144					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			pancreas(1)	1						TCTTTGGCGCGCTGCTCCCCC	0.502													A	133557075	G	A	133557075	3	1	96	1	0	0	0	0	1	0	0	0	12952	1087	38	1	208	1	RAB6B	3	133557075	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	217986	133557075	64465355	292	63254											
ARMC8	25852	broad.mit.edu	37	chr3	137942279	137942279	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcacagagctgaaaacTgaatgtgcagtggtgttggg	14	6	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:137942279T>G	uc003esa.1	+	5	568	c.201T>G	c.(199-201)ACT>ACG	p.T67T	ARMC8_uc003erw.2_Silent_p.T67T|ARMC8_uc003erx.2_Silent_p.T67T|ARMC8_uc003ery.2_Silent_p.T39T|ARMC8_uc003erz.2_Silent_p.T39T|ARMC8_uc011bmf.1_Silent_p.T81T|ARMC8_uc011bmg.1_Silent_p.T81T|ARMC8_uc011bmh.1_Silent_p.T39T|ARMC8_uc003esb.1_Silent_p.T39T	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8 isoform 2	81	ARM 1.						binding				0						AGCTGAAAACTGAATGTGCAG	0.383													G	137942279	T	G	137942279	2	3	96	1	0	0	0	0	0	0	0	1	957	1567	55	5		5	ARMC8	3	137942279	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4385204	137942279	60080151	293	63255											
TRIM42	287015	broad.mit.edu	37	chr3	140407025	140407025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagaaggtacgctcctcaGgggactccctgccctccccc	9	19	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:140407025G>A	uc003eto.1	+	3	1692	c.1501G>A	c.(1501-1503)GGG>AGG	p.G501R		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	501						intracellular	zinc ion binding			lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						ACGCTCCTCAGGGGACTCCCT	0.567													A	140407025	G	A	140407025	3	1	96	1	0	0	0	0	1	0	0	0	16514	1000	35	4	1511	4	TRIM42	3	140407025	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	2464746	140407025	57615405	294	63256											
XRN1	54464	broad.mit.edu	37	chr3	142103387	142103387	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacaatagtttgataaacaAaaggaacaacttgttttgac	7	5	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:142103387A>C	uc003eus.2	-	21	2547	c.2480T>G	c.(2479-2481)TTT>TGT	p.F827C	XRN1_uc010huu.2_Missense_Mutation_p.F293C|XRN1_uc003eut.2_Missense_Mutation_p.F827C|XRN1_uc003euu.2_Missense_Mutation_p.F827C|XRN1_uc003euv.1_Missense_Mutation_p.F688C	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	827					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						TTGATAAACAAAAGGAACAAC	0.308													C	142103387	A	C	142103387	3	2	96	1	0	0	0	0	1	0	0	0	17456	14	1	5	2728	5	XRN1	3	142103387	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1696362	142103387	55919043	295	63257											
ATR	545	broad.mit.edu	37	chr3	142231116	142231116	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actcacccattgagtctaccTtatttctgtttgatttgctg	6	10	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:142231116T>G	uc003eux.3	-	27	4960	c.4838A>C	c.(4837-4839)AAG>ACG	p.K1613T		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1613					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						TGAGTCTACCTTATTTCTGTT	0.368								Other_conserved_DNA_damage_response_genes					G	142231116	T	G	142231116	3	3	96	1	0	0	0	0	1	0	0	0	1204	1609	56	5	3180	5	ATR	3	142231116	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	127729	142231116	55791314	296	63258											
SLC9A9	285195	broad.mit.edu	37	chr3	143214209	143214209	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tataaaaagagcattaaagaTatgattctggaacgtgaaca	8	4	1	4	rs138653730		TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:143214209T>C	uc003evn.2	-	10	1353	c.1171A>G	c.(1171-1173)ATC>GTC	p.I391V		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	391	Helical; (Potential).				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3						GCATTAAAGATATGATTCTGG	0.353													C	143214209	T	C	143214209	3	2	96	1	0	0	0	0	1	0	0	0	14721	1406	49	3	794	3	SLC9A9	3	143214209	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	983093	143214209	54808221	297	63259											
PLOD2	5352	broad.mit.edu	37	chr3	145790437	145790437	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaatatggggaaccaaaAgacatctggacagggctata	11	6	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:145790437A>C	uc003evs.1	-	16	2202	c.1696T>G	c.(1696-1698)TTT>GTT	p.F566V	PLOD2_uc003evq.1_Missense_Mutation_p.F247V|PLOD2_uc011bnm.1_Missense_Mutation_p.F532V|PLOD2_uc003evr.1_Missense_Mutation_p.F587V	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	566					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)	GGGAACCAAAAGACATCTGGA	0.284													C	145790437	A	C	145790437	3	2	96	1	0	0	0	0	1	0	0	0	12102	72	3	5	533	5	PLOD2	3	145790437	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2576228	145790437	52231993	298	63260											
IGSF10	285313	broad.mit.edu	37	chr3	151165878	151165878	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggggtgacctgtaatattcTtaatgtgccattgtttagaa	10	6	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:151165878T>G	uc011bod.1	-	4	1891	c.1891A>C	c.(1891-1893)AGA>CGA	p.R631R		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	631	Ig-like C2-type 2.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTAATATTCTTAATGTGCCA	0.413													G	151165878	T	G	151165878	2	3	96	1	0	0	0	0	0	0	0	1	7597	1617	56	5		5	IGSF10	3	151165878	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5375441	151165878	46856552	299	63261											
MBNL1	4154	broad.mit.edu	37	chr3	152132860	152132860	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttggcccagcaaatgcaacTagccaatgccatgatgcctg	10	12	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:152132860T>C	uc003ezm.2	+	2	1094	c.305T>C	c.(304-306)CTA>CCA	p.L102P	MBNL1_uc003ezh.2_Missense_Mutation_p.L102P|MBNL1_uc003ezi.2_Missense_Mutation_p.L102P|MBNL1_uc003ezj.2_Missense_Mutation_p.L45P|MBNL1_uc003ezl.2_Missense_Mutation_p.L102P|MBNL1_uc003ezp.2_Missense_Mutation_p.L102P|MBNL1_uc003ezn.2_Missense_Mutation_p.L102P|MBNL1_uc003ezo.2_Missense_Mutation_p.L102P|MBNL1_uc010hvp.2_Missense_Mutation_p.L10P	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	muscleblind-like 1 isoform c	102					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CAAATGCAACTAGCCAATGCC	0.438													C	152132860	T	C	152132860	3	2	96	1	0	0	0	0	1	0	0	0	9353	1522	53	3	311	3	MBNL1	3	152132860	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	966982	152132860	45889570	300	63262											
TIPARP	25976	broad.mit.edu	37	chr3	156413677	156413677	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcattcgattgattgaagaAgccaactctcggggtctgaa	11	8	3	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:156413677A>C	uc003fav.2	+	4	1358	c.1110A>C	c.(1108-1110)GAA>GAC	p.E370D	TIPARP_uc003faw.2_Missense_Mutation_p.E370D	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	370	WWE.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|breast(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGATTGAAGAAGCCAACTCTC	0.353													C	156413677	A	C	156413677	3	2	96	1	0	0	0	0	1	0	0	0	15921	69	3	5	1120	5	TIPARP	3	156413677	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4280817	156413677	41608753	301	63263											
IL12A	3592	broad.mit.edu	37	chr3	159713282	159713282	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcaagctctgcatacttcTtcatgctttcagaattcggg	7	10	5	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:159713282T>G	uc003fcx.2	+	7	913	c.698T>G	c.(697-699)CTT>CGT	p.L233R	uc003fcw.1_Intron	NM_000882	NP_000873	P29459	IL12A_HUMAN	interleukin 12A precursor	199					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity				0			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGCATACTTCTTCATGCTTTC	0.403													G	159713282	T	G	159713282	3	3	96	1	0	0	0	0	1	0	0	0	7624	1609	56	5	724	5	IL12A	3	159713282	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3299605	159713282	38309148	302	63264											
BCHE	590	broad.mit.edu	37	chr3	165548648	165548648	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctgtgcatagggaatTccaagaaaggctgttaccgt	14	7	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:165548648T>G	uc003fem.3	-	2	334	c.174A>C	c.(172-174)GGA>GGC	p.G58G	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	58					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CATAGGGAATTCCAAGAAAGG	0.413													G	165548648	T	G	165548648	2	3	96	1	0	0	0	0	0	0	0	1	1358	1770	62	5		5	BCHE	3	165548648	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5835366	165548648	32473782	303	63265											
SERPINI1	5274	broad.mit.edu	37	chr3	167510376	167510376	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctattcattttttcctaaatAgatctggtgaaagatttggt	7	5	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:167510376A>G	uc003ffa.3	+	4	680	c.482_splice	c.e4-2	p.N161_splice	SERPINI1_uc003ffb.3_Splice_Site_p.N161_splice	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN	neuroserpin precursor						central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(1)	1						TTTCCTAAATAGATCTGGTGA	0.398													G	167510376	A	G	167510376	5	3	96	1	0	0	0	0	0	0	1	0	14118	434	15	3	490	3	SERPINI1	3	167510376	Splice_Site	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1961728	167510376	30512054	304	63266											
LRRC31	79782	broad.mit.edu	37	chr3	169578490	169578490	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagatatccagttcttccaAgtctgggagaaaaggcagca	12	8	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:169578490A>G	uc003fgc.1	-	3	423	c.346T>C	c.(346-348)TTG>CTG	p.L116L	LRRC31_uc010hwp.1_Intron	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	116										ovary(2)|skin(1)	3	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			AGTTCTTCCAAGTCTGGGAGA	0.398													G	169578490	A	G	169578490	2	3	96	1	0	0	0	0	0	0	0	1	8986	69	3	3		3	LRRC31	3	169578490	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2068114	169578490	28443940	305	63267											
SLC7A14	57709	broad.mit.edu	37	chr3	170201299	170201299	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatggcaccatcagagttaAgatcacgctcacctgttaaa	7	10	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:170201299A>C	uc003fgz.2	-	6	1235	c.919T>G	c.(919-921)TTA>GTA	p.L307V	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	307	Helical; (Potential).					integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			ATCAGAGTTAAGATCACGCTC	0.512											OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	170201299	A	C	170201299	3	2	96	1	0	0	0	0	1	0	0	0	14696	69	3	5	1408	5	SLC7A14	3	170201299	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	622809	170201299	27821131	306	63268											
TNIK	23043	broad.mit.edu	37	chr3	170797363	170797363	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgatccagccttgtttcTtttctacttctgggtcatta	7	10	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:170797363T>C	uc003fhh.2	-	28	3737	c.3392A>G	c.(3391-3393)AAG>AGG	p.K1131R	TNIK_uc003fhi.2_Missense_Mutation_p.K1076R|TNIK_uc003fhj.2_Missense_Mutation_p.K1102R|TNIK_uc003fhk.2_Missense_Mutation_p.K1123R|TNIK_uc003fhl.2_Missense_Mutation_p.K1047R|TNIK_uc003fhm.2_Missense_Mutation_p.K1068R|TNIK_uc003fhn.2_Missense_Mutation_p.K1094R|TNIK_uc003fho.2_Missense_Mutation_p.K1039R|TNIK_uc003fhg.2_Missense_Mutation_p.K309R|TNIK_uc003fhp.2_Missense_Mutation_p.K63R	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	1131	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GCCTTGTTTCTTTTCTACTTC	0.348													C	170797363	T	C	170797363	3	2	96	1	0	0	0	0	1	0	0	0	16310	1609	56	3	714	3	TNIK	3	170797363	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	596064	170797363	27225067	307	63269											
ECT2	1894	broad.mit.edu	37	chr3	172533486	172533486	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagcatcaagagcaataaaAaagacttcaaaaaaggtgag	9	5	2	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:172533486A>C	uc003fii.2	+	22	2538	c.2400A>C	c.(2398-2400)AAA>AAC	p.K800N	ECT2_uc010hwv.1_Missense_Mutation_p.K831N|ECT2_uc003fih.2_Missense_Mutation_p.K799N|ECT2_uc003fij.1_Missense_Mutation_p.K800N|ECT2_uc003fik.1_Missense_Mutation_p.K800N|ECT2_uc003fil.1_Missense_Mutation_p.K831N|ECT2_uc003fim.1_Missense_Mutation_p.K99N	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	800					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			GAGCAATAAAAAAGACTTCAA	0.303													C	172533486	A	C	172533486	3	2	96	1	0	0	0	0	1	0	0	0	4901	11	1	5	2482	5	ECT2	3	172533486	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1736123	172533486	25488944	308	63270											
SPATA16	83893	broad.mit.edu	37	chr3	172835109	172835109	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acatgaaggactctacaaacTcatagcgaacacccatttca	5	12	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:172835109T>G	uc003fin.3	-	2	571	c.413A>C	c.(412-414)GAG>GCG	p.E138A		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	138					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTCTACAAACTCATAGCGAAC	0.428													G	172835109	T	G	172835109	3	3	96	1	0	0	0	0	1	0	0	0	15000	1551	54	5	1336	5	SPATA16	3	172835109	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	301623	172835109	25187321	309	63271											
PIK3CA	5290	broad.mit.edu	37	chr3	178941911	178941911	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcaaatgaggcgaccagatTtcatggatgctctacagggc	12	9	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:178941911T>A	uc003fjk.2	+	15	2387	c.2230T>A	c.(2230-2232)TTC>ATC	p.F744I		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	744					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GCGACCAGATTTCATGGATGC	0.358		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178941911	T	A	178941911	3	1	96	1	0	0	0	0	1	0	0	0	11913	1841	64	5	2284	5	PIK3CA	3	178941911	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	6106802	178941911	19080519	310	63272											
PEX5L	51555	broad.mit.edu	37	chr3	179525470	179525470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtacttcacctgtaggcGcccaggttgatgcagcttat	11	11	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:179525470G>A	uc003fki.1	-	14	1798	c.1668C>T	c.(1666-1668)GGC>GGT	p.G556G	PEX5L_uc011bqd.1_Silent_p.G513G|PEX5L_uc011bqe.1_Silent_p.G364G|PEX5L_uc011bqf.1_Silent_p.G448G|PEX5L_uc003fkj.1_Silent_p.G521G|PEX5L_uc010hxd.1_Silent_p.G554G|PEX5L_uc011bqg.1_Silent_p.G532G|PEX5L_uc011bqh.1_Silent_p.G497G	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	556	TPR 5.				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ACCTGTAGGCGCCCAGGTTGA	0.527													A	179525470	G	A	179525470	2	1	96	1	0	0	0	0	0	0	0	1	11749	1074	38	1		1	PEX5L	3	179525470	Silent	SNP	G	TCGA-BR-8589-01A-11D-2394-08	583559	179525470	18496960	311	63273											
MCCC1	56922	broad.mit.edu	37	chr3	182755192	182755192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggccagacaggttgagtaAgaagtcaatgttggtgtgca	15	5	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:182755192A>G	uc003fle.2	-	13	1545	c.1408T>C	c.(1408-1410)TTA>CTA	p.L470L	MCCC1_uc010hxi.2_Intron|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Silent_p.L353L|MCCC1_uc003flg.2_Silent_p.L361L|MCCC1_uc011bqp.1_Silent_p.L423L	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	470	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	AGGTTGAGTAAGAAGTCAATG	0.478													G	182755192	A	G	182755192	2	3	96	1	0	0	0	0	0	0	0	1	9374	69	3	3		3	MCCC1	3	182755192	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3229722	182755192	15267238	312	63274											
ABCC5	10057	broad.mit.edu	37	chr3	183669329	183669329	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccttcggaaaagctcgtcAtgcagccgggaggaagctcg	13	11	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:183669329A>G	uc003fmg.2	-	20	3009	c.2844T>C	c.(2842-2844)CAT>CAC	p.H948H	ABCC5_uc011bqt.1_Silent_p.H476H|ABCC5_uc010hxl.2_Silent_p.H948H	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	948	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AAAGCTCGTCATGCAGCCGGG	0.567													G	183669329	A	G	183669329	2	3	96	1	0	0	0	0	0	0	0	1	56	214	8	3		3	ABCC5	3	183669329	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	914137	183669329	14353101	313	63275											
EPHB3	2049	broad.mit.edu	37	chr3	184294690	184294690	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacctcactgatcctcgAgtggagtgagccccgggacc	12	13	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:184294690A>C	uc003foz.2	+	5	1510	c.1073A>C	c.(1072-1074)GAG>GCG	p.E358A		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	358	Fibronectin type-III 1.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CTGATCCTCGAGTGGAGTGAG	0.602													C	184294690	A	C	184294690	3	2	96	1	0	0	0	0	1	0	0	0	5176	304	11	5	1091	5	EPHB3	3	184294690	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	625361	184294690	13727740	314	63276											
EPHB3	2049	broad.mit.edu	37	chr3	184297675	184297675	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaagtcggccagttatgAtcctcactgagttcatggaa	9	10	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:184297675A>C	uc003foz.2	+	11	2562	c.2125A>C	c.(2125-2127)ATC>CTC	p.I709L		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	709	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCCAGTTATGATCCTCACTGA	0.592													C	184297675	A	C	184297675	3	2	96	1	0	0	0	0	1	0	0	0	5176	333	12	5	2167	5	EPHB3	3	184297675	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2985	184297675	13724755	315	63277											
IGF2BP2	10644	broad.mit.edu	37	chr3	185390359	185390359	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggtagggggcagcggggggAgctccgcggggccctgctgg	23	10	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:185390359A>T	uc003fpo.2	-	10	1249	c.1170T>A	c.(1168-1170)GCT>GCA	p.A390A	IGF2BP2_uc010hyi.2_Silent_p.A333A|IGF2BP2_uc010hyj.2_Silent_p.A327A|IGF2BP2_uc010hyk.2_Silent_p.A254A|IGF2BP2_uc010hyl.2_Intron|IGF2BP2_uc003fpp.2_Intron|IGF2BP2_uc003fpq.2_Silent_p.A395A	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding	390					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity				0	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CAGCGGGGGGAGCTCCGCGGG	0.597													T	185390359	A	T	185390359	2	4	96	1	0	0	0	0	0	0	0	1	7574	291	11	5		5	IGF2BP2	3	185390359	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1092684	185390359	12632071	316	63278											
ETV5	2119	broad.mit.edu	37	chr3	185766624	185766624	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catctgggtcacagacaaatTtgtagacgtatcgctctcca	8	11	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:185766624T>G	uc003fpz.2	-	13	1584	c.1337A>C	c.(1336-1338)AAA>ACA	p.K446T	ETV5_uc003fpy.2_Missense_Mutation_p.K488T	NM_004454	NP_004445	P41161	ETV5_HUMAN	ets variant gene 5 (ets-related molecule)	446	ETS.				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|skin(2)|breast(1)	5	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ACAGACAAATTTGTAGACGTA	0.572			T	TMPRSS2|SCL45A3	Prostate 								G	185766624	T	G	185766624	3	3	96	1	0	0	0	0	1	0	0	0	5282	1841	64	5	199	5	ETV5	3	185766624	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	376265	185766624	12255806	317	63279											
DNAJB11	51726	broad.mit.edu	37	chr3	186290034	186290034	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggatctgggtgctgcTtatgaggtgagttgggaaaa	15	5	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:186290034T>G	uc003fqi.2	+	2	439	c.219T>G	c.(217-219)GCT>GCG	p.A73A	TBCCD1_uc011bry.1_5'Flank|TBCCD1_uc003fqh.2_5'Flank	NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	73	J.				protein folding	endoplasmic reticulum lumen	heat shock protein binding			ovary(1)|lung(1)	2	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TGGGTGCTGCTTATGAGGTGA	0.418													G	186290034	T	G	186290034	2	3	96	1	0	0	0	0	0	0	0	1	4616	1596	56	5		5	DNAJB11	3	186290034	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	523410	186290034	11732396	318	63280											
RPL39L	116832	broad.mit.edu	37	chr3	186839075	186839075	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcgcttaatggtgaaagtcTtgtgagaagacatggcgaga	13	5	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:186839075T>A	uc003fre.1	-	3	369	c.14A>T	c.(13-15)AAG>ATG	p.K5M	RPL39L_uc003frf.1_RNA	NM_052969	NP_443201	Q96EH5	RL39L_HUMAN	ribosomal protein L39-like protein	5					spermatogenesis|translation	cytosolic large ribosomal subunit	structural constituent of ribosome				0	all_cancers(143;2.61e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.87e-18)	GBM - Glioblastoma multiforme(93;0.0745)		GGTGAAAGTCTTGTGAGAAGA	0.448													A	186839075	T	A	186839075	3	1	96	1	0	0	0	0	1	0	0	0	13593	1609	56	5	145	5	RPL39L	3	186839075	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	549041	186839075	11183355	319	63281											
TMEM207	131920	broad.mit.edu	37	chr3	190167579	190167579	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatcgctgaggtgacactgAaaagtctggatcttgacata	11	7	2	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:190167579A>G	uc003fsj.2	-	1	87	c.20T>C	c.(19-21)TTC>TCC	p.F7S		NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	transmembrane protein 207 precursor	7						integral to membrane					0	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		GGTGACACTGAAAAGTCTGGA	0.413													G	190167579	A	G	190167579	3	3	96	1	0	0	0	0	1	0	0	0	16129	246	9	3	440	3	TMEM207	3	190167579	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3328504	190167579	7854851	320	63282											
ATP13A4	84239	broad.mit.edu	37	chr3	193156311	193156311	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggagttttggaagtgaaAggtgaggccacagatgcctc	14	6	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:193156311A>C	uc003ftd.2	-	23	2733	c.2625T>G	c.(2623-2625)CCT>CCG	p.P875P	ATP13A4_uc010hzi.2_RNA	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	875	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGGAAGTGAAAGGTGAGGCCA	0.448													C	193156311	A	C	193156311	2	2	96	1	0	0	0	0	0	0	0	1	1126	59	3	5		5	ATP13A4	3	193156311	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2988732	193156311	4866119	321	63283											
ZDHHC19	131540	broad.mit.edu	37	chr3	195937536	195937536	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgagtgaaacaagactgaaGaaggtaaggacaaagaggga	14	3	0	6			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr3:195937536G>A	uc003fwc.2	-	2	333	c.219C>T	c.(217-219)TTC>TTT	p.F73F	ZDHHC19_uc010hzz.2_RNA|ZDHHC19_uc010iaa.2_Intron|ZDHHC19_uc010iab.2_RNA	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC domain containing 19	73	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			ovary(3)	3	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		CAAGACTGAAGAAGGTAAGGA	0.552													A	195937536	G	A	195937536	2	1	96	1	0	0	0	0	0	0	0	1	17606	933	33	4		4	ZDHHC19	3	195937536	Silent	SNP	G	TCGA-BR-8589-01A-11D-2394-08	2781225	195937536	2084894	322	63284											
ZNF595	152687	broad.mit.edu	37	chr4	87142	87142	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaacccttactaaacataAgagaattcatactggagaga	6	9	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:87142A>C	uc003fzv.1	+	6	1904	c.1748A>C	c.(1747-1749)AAG>ACG	p.K583T	ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.K351T|ZNF595_uc011but.1_Missense_Mutation_p.K351T	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN	zinc finger protein 595	583					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		ACTAAACATAAGAGAATTCAT	0.378													C	87142	A	C	87142	3	2	96	1	0	0	0	0	1	0	0	0	18022	64	3	5	1761	5	ZNF595	4	87142	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08		87142	191067134	323	63285											
SLBP	7884	broad.mit.edu	37	chr4	1696553	1696553	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgctttctgcagattcaAggtctacagggtgtctgtta	11	8	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:1696553A>C	uc003gdi.1	-	7	759	c.644T>G	c.(643-645)CTT>CGT	p.L215R	SLBP_uc010ibx.1_Missense_Mutation_p.L222R|SLBP_uc003gdj.1_Missense_Mutation_p.L195R|SLBP_uc003gdk.1_Missense_Mutation_p.L176R|SLBP_uc011bvf.1_Missense_Mutation_p.L180R|SLBP_uc003gdl.1_Missense_Mutation_p.L132R	NM_006527	NP_006518	Q14493	SLBP_HUMAN	stem-loop (histone) binding protein	215					DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription	cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm	histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding				0		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			TGCAGATTCAAGGTCTACAGG	0.493													C	1696553	A	C	1696553	3	2	96	1	0	0	0	0	1	0	0	0	14372	72	3	5	176	5	SLBP	4	1696553	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1609411	1696553	189457723	324	63286											
AFAP1	60312	broad.mit.edu	37	chr4	7774589	7774589	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggctcgatggccagcccCagggtgactccgcccgccag	14	16	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:7774589C>T	uc003gkg.1	-	15	2232	c.1959G>A	c.(1957-1959)CTG>CTA	p.L653L	AFAP1_uc011bwk.1_Silent_p.L737L|LOC84740_uc003gkd.3_RNA	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	653						actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						TGGCCAGCCCCAGGGTGACTC	0.672													T	7774589	C	T	7774589	2	4	96	1	0	0	0	0	0	0	0	1	353	581	21	4		4	AFAP1	4	7774589	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	6078036	7774589	183379687	325	63287											
CPZ	8532	broad.mit.edu	37	chr4	8621297	8621297	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccctggtggtggtcctacTtcacatcgctgagcacccac	10	15	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:8621297T>C	uc003glm.2	+	11	2038	c.1912T>C	c.(1912-1914)TTC>CTC	p.F638L	CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.F501L|CPZ_uc003glo.2_Missense_Mutation_p.F627L|CPZ_uc003glp.2_RNA	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z isoform 1	638					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3						GTGGTCCTACTTCACATCGCT	0.701													C	8621297	T	C	8621297	3	2	96	1	0	0	0	0	1	0	0	0	3839	1609	56	3	1954	3	CPZ	4	8621297	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	846708	8621297	182532979	326	63288											
CD38	952	broad.mit.edu	37	chr4	15826541	15826541	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataaaagatctggcccatcAgttcacacaggtccagcggg	10	11	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:15826541A>G	uc011bxc.1	+	3	508	c.401A>G	c.(400-402)CAG>CGG	p.Q134R	CD38_uc003goj.1_Missense_Mutation_p.Q134R|CD38_uc003gol.1_Missense_Mutation_p.Q134R	NM_001775	NP_001766	P28907	CD38_HUMAN	CD38 antigen	134	Extracellular (Potential).				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			ovary(2)	2						CTGGCCCATCAGTTCACACAG	0.378													G	15826541	A	G	15826541	3	3	96	1	0	0	0	0	1	0	0	0	3009	188	7	3	411	3	CD38	4	15826541	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	7205244	15826541	175327735	327	63289											
LAP3	51056	broad.mit.edu	37	chr4	17586723	17586723	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaaattattgagaagaatcTcaaaagtgctagtagtaaaa	8	3	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:17586723T>A	uc003gph.1	+	6	830	c.668T>A	c.(667-669)CTC>CAC	p.L223H	LAP3_uc010ieg.2_3'UTR	NM_015907	NP_056991	P28838	AMPL_HUMAN	leucine aminopeptidase 3	223					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding				0						GAGAAGAATCTCAAAAGTGCT	0.343													A	17586723	T	A	17586723	3	1	96	1	0	0	0	0	1	0	0	0	8623	1551	54	5	690	5	LAP3	4	17586723	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1760182	17586723	173567553	328	63290											
LGI2	55203	broad.mit.edu	37	chr4	25028556	25028556	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgaatgagttagaattcAgcaatctgaaagtaagagac	10	5	2	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:25028556A>C	uc003grf.2	-	3	374	c.275T>G	c.(274-276)CTG>CGG	p.L92R		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	92	LRR 1.					extracellular region					0		Breast(46;0.173)				GTTAGAATTCAGCAATCTGAA	0.383													C	25028556	A	C	25028556	3	2	96	1	0	0	0	0	1	0	0	0	8752	188	7	5	1386	5	LGI2	4	25028556	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	7441833	25028556	166125720	329	63291											
RBPJ	3516	broad.mit.edu	37	chr4	26430438	26430438	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaccttaaggatacagaaAgaatgtatttgtgcctttct	7	6	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:26430438A>C	uc003grx.1	+	9	1119	c.883A>C	c.(883-885)AGA>CGA	p.R295R	RBPJ_uc003gry.1_Silent_p.R280R|RBPJ_uc003grz.1_Silent_p.R295R|RBPJ_uc011bxt.1_Silent_p.R295R|RBPJ_uc003gsa.1_Silent_p.R281R|RBPJ_uc003gsb.1_Silent_p.R282R|RBPJ_uc003gsc.1_Silent_p.R281R	NM_005349	NP_005340	Q06330	SUH_HUMAN	recombining binding protein suppressor of	295					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)	3		Breast(46;0.0503)				GGATACAGAAAGAATGTATTT	0.333													C	26430438	A	C	26430438	2	2	96	1	0	0	0	0	0	0	0	1	13161	64	3	5		5	RBPJ	4	26430438	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1401882	26430438	164723838	330	63292											
TLR10	81793	broad.mit.edu	37	chr4	38776650	38776650	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagttttgttgtgtttaAgatgggcaggctaccttctt	12	6	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:38776650A>C	uc003gti.2	-	2	941	c.562T>G	c.(562-564)TTA>GTA	p.L188V	TLR10_uc003gtj.2_Missense_Mutation_p.L188V|TLR10_uc003gtk.2_Missense_Mutation_p.L188V	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	188	Extracellular (Potential).				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2						GTTGTGTTTAAGATGGGCAGG	0.348													C	38776650	A	C	38776650	3	2	96	1	0	0	0	0	1	0	0	0	15947	69	3	5	1877	5	TLR10	4	38776650	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	12346212	38776650	152377626	331	63293											
RFC1	5981	broad.mit.edu	37	chr4	39301996	39301996	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacatgtgagcagtctcctcTccagctgcaaacactttccg	8	14	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:39301996T>C	uc003gty.1	-	20	2711	c.2577A>G	c.(2575-2577)GGA>GGG	p.G859G	RFC1_uc003gtx.1_Silent_p.G858G	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	859					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4						CAGTCTCCTCTCCAGCTGCAA	0.348													C	39301996	T	C	39301996	2	2	96	1	0	0	0	0	0	0	0	1	13244	1538	54	3		3	RFC1	4	39301996	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	525346	39301996	151852280	332	63294											
RBM47	54502	broad.mit.edu	37	chr4	40439938	40439938	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccttctggtagcgcgAgtactgctccttgtccacgg	13	13	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:40439938A>G	uc003gvc.2	-	4	1683	c.973T>C	c.(973-975)TCG>CCG	p.S325P	RBM47_uc003gvd.2_Missense_Mutation_p.S325P|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.S287P|RBM47_uc003gvg.1_Missense_Mutation_p.S325P	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	325						nucleus	nucleotide binding|RNA binding			breast(3)	3						TGGTAGCGCGAGTACTGCTCC	0.662													G	40439938	A	G	40439938	3	3	96	1	0	0	0	0	1	0	0	0	13141	304	11	3	824	3	RBM47	4	40439938	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1137942	40439938	150714338	333	63295											
PHOX2B	8929	broad.mit.edu	37	chr4	41748224	41748224	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttggcctctttgctctcgTcgtccctggaagagtcagac	10	13	4	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:41748224T>G	uc003gwf.3	-	3	905	c.545A>C	c.(544-546)GAC>GCC	p.D182A		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	182					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1)	12						TTTGCTCTCGTCGTCCCTGGA	0.647			Mis|F		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				G	41748224	T	G	41748224	3	3	96	1	0	0	0	0	1	0	0	0	11859	1667	58	5	403	5	PHOX2B	4	41748224	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1308286	41748224	149406052	334	63296											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984471	41984471	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgggacaccagcagtcatTtgataccagcagtgatgtct	11	10	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:41984471T>G	uc003gwk.2	+	1	759	c.662T>G	c.(661-663)TTT>TGT	p.F221C		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	WD repeat domain 21B	221										skin(1)	1						CAGCAGTCATTTGATACCAGC	0.552													G	41984471	T	G	41984471	3	3	96	1	0	0	0	0	1	0	0	0	4271	1841	64	5	664	5	DCAF4L1	4	41984471	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	236247	41984471	149169805	335	63297											
GABRB1	2560	broad.mit.edu	37	chr4	47322225	47322225	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccctggagatcgaaagTtgtgagttacttggacaggg	14	7	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:47322225T>A	uc003gxh.2	+	5	917	c.543T>A	c.(541-543)AGT>AGA	p.S181R	GABRB1_uc011bze.1_Missense_Mutation_p.S111R	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	181	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGATCGAAAGTTGTGAGTTAC	0.433													A	47322225	T	A	47322225	3	1	96	1	0	0	0	0	1	0	0	0	6166	1739	60	5	561	5	GABRB1	4	47322225	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5337754	47322225	143832051	336	63298											
LRRC66	339977	broad.mit.edu	37	chr4	52861969	52861969	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttttgctctggcacttttTttgccacagtctgtcaacat	7	11	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:52861969T>G	uc003gzi.2	-	4	1232	c.1219A>C	c.(1219-1221)AAA>CAA	p.K407Q		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	407						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						TGGCACTTTTTTTGCCACAGT	0.557													G	52861969	T	G	52861969	3	3	96	1	0	0	0	0	1	0	0	0	9018	1850	64	5	1427	5	LRRC66	4	52861969	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5539744	52861969	138292307	337	63299											
KDR	3791	broad.mit.edu	37	chr4	55962481	55962481	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttgagttcagacatgagAgctcgatgctcactgtgtgt	11	8	3	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:55962481A>G	uc003has.2	-	19	2945	c.2643T>C	c.(2641-2643)GCT>GCC	p.A881A	KDR_uc003hat.1_Silent_p.A881A	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	881	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CAGACATGAGAGCTCGATGCT	0.468			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			G	55962481	A	G	55962481	2	3	96	1	0	0	0	0	0	0	0	1	8139	291	11	3		3	KDR	4	55962481	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3100512	55962481	135191795	338	63300											
MUC7	4589	broad.mit.edu	37	chr4	71346711	71346711	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctaataacccccccaaaTtcccaaatcctcaccagcca	1	20	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:71346711T>G	uc011cat.1	+	4	538	c.250T>G	c.(250-252)TTC>GTC	p.F84V	MUC7_uc011cau.1_Missense_Mutation_p.F84V|MUC7_uc003hfj.2_Missense_Mutation_p.F84V|uc011cav.1_RNA	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	84						extracellular region	protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4			Lung(101;0.211)			CCCCCCCAAATTCCCAAATCC	0.463													G	71346711	T	G	71346711	3	3	96	1	0	0	0	0	1	0	0	0	9981	1493	52	5	256	5	MUC7	4	71346711	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	15384230	71346711	119807565	339	63301											
SLC4A4	8671	broad.mit.edu	37	chr4	72413427	72413427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtcagtctttatggctcCcatcttgaaggtaaatatgt	8	8	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:72413427C>T	uc003hfy.2	+	20	2801	c.2684C>T	c.(2683-2685)CCC>CTC	p.P895L	SLC4A4_uc010iic.2_Missense_Mutation_p.P895L|SLC4A4_uc010iib.2_Intron|SLC4A4_uc003hfz.2_Missense_Mutation_p.P895L|SLC4A4_uc003hgc.3_Missense_Mutation_p.P851L|SLC4A4_uc010iid.2_Missense_Mutation_p.P99L	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	895	Helical; (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTTATGGCTCCCATCTTGAAG	0.388													T	72413427	C	T	72413427	3	4	96	1	0	0	0	0	1	0	0	0	14656	623	22	4	2879	4	SLC4A4	4	72413427	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	1066716	72413427	118740849	340	63302											
PARM1	25849	broad.mit.edu	37	chr4	75937967	75937967	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaccacgttggaggaacacAgctcgggcactcctgaagca	11	13	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:75937967A>C	uc003hih.1	+	2	616	c.376A>C	c.(376-378)AGC>CGC	p.S126R		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	prostatic androgen-repressed message-1	126	Extracellular (Potential).				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				ovary(1)	1						GGAGGAACACAGCTCGGGCAC	0.587													C	75937967	A	C	75937967	3	2	96	1	0	0	0	0	1	0	0	0	11452	188	7	5	382	5	PARM1	4	75937967	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3524540	75937967	115216309	341	63303											
C4orf26	152816	broad.mit.edu	37	chr4	76489614	76489614	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataggtatttccccagaagaAgactccagagaggaagctca	10	9	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:76489614A>C	uc003hip.1	+	2	393	c.358A>C	c.(358-360)AGA>CGA	p.R120R	C4orf26_uc011cbn.1_RNA|C4orf26_uc011cbo.1_Missense_Mutation_p.E134D	NM_178497	NP_848592	Q17RF5	CD026_HUMAN	hypothetical protein LOC152816 precursor	120						extracellular region					0			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CCCCAGAAGAAGACTCCAGAG	0.428													C	76489614	A	C	76489614	2	2	96	1	0	0	0	0	0	0	0	1	2257	64	3	5		5	C4orf26	4	76489614	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	551647	76489614	114664662	342	63304											
CDKL2	8999	broad.mit.edu	37	chr4	76532367	76532367	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccattactgatgtcttacTtgccatacttgacatcacca	4	14	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:76532367T>C	uc003hiq.2	-	4	1067	c.542A>G	c.(541-543)AAG>AGG	p.K181R	CDKL2_uc011cbp.1_Missense_Mutation_p.K181R|CDKL2_uc010iix.1_Intron	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2	181	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(2)|stomach(2)|breast(2)|skin(1)	7			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GATGTCTTACTTGCCATACTT	0.418													C	76532367	T	C	76532367	3	2	96	1	0	0	0	0	1	0	0	0	3154	1623	56	3	971	3	CDKL2	4	76532367	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	42753	76532367	114621909	343	63305											
CXCL10	3627	broad.mit.edu	37	chr4	76944543	76944543	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccttgaatgccacttagagtCagaaagataaggcagcaaat	9	8	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:76944543C>T	uc003hjl.3	-	1	112	c.42G>A	c.(40-42)CTG>CTA	p.L14L	ART3_uc003hji.2_Intron|ART3_uc003hjj.2_Intron|ART3_uc003hjk.2_Intron	NM_001565	NP_001556	P02778	CXL10_HUMAN	small inducible cytokine B10 precursor	14					blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation	extracellular space	cAMP-dependent protein kinase regulator activity|chemokine activity				0			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CACTTAGAGTCAGAAAGATAA	0.358													T	76944543	C	T	76944543	2	4	96	1	0	0	0	0	0	0	0	1	4078	813	29	4		4	CXCL10	4	76944543	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	412176	76944543	114209733	344	63306											
ART3	419	broad.mit.edu	37	chr4	77003337	77003337	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttccacttttacctcacaAgagccctgcagttgctgaga	7	13	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:77003337A>T	uc003hjo.2	+	3	549	c.430A>T	c.(430-432)AGA>TGA	p.R144*	ART3_uc003hji.2_Nonsense_Mutation_p.R144*|ART3_uc003hjj.2_Nonsense_Mutation_p.R144*|ART3_uc003hjk.2_Nonsense_Mutation_p.R144*|ART3_uc010ija.1_Nonsense_Mutation_p.R144*|ART3_uc003hjn.2_Nonsense_Mutation_p.R144*|ART3_uc003hjp.2_Intron|ART3_uc010ijb.2_Intron|ART3_uc003hjq.2_Intron|ART3_uc003hjr.2_Nonsense_Mutation_p.R114*|ART3_uc010ijc.2_Nonsense_Mutation_p.R114*|ART3_uc010ijd.2_Nonsense_Mutation_p.R114*	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3 isoform a	144					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			ovary(2)	2			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTACCTCACAAGAGCCCTGCA	0.443													T	77003337	A	T	77003337	4	4	96	1	0	0	0	0	0	1	0	0	998	64	3	5	436	5	ART3	4	77003337	Nonsense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	58794	77003337	114150939	345	63307											
FRAS1	80144	broad.mit.edu	37	chr4	79308837	79308837	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccataatatactgttccaAgtgaagaccgtgcctcaggt	8	10	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:79308837A>C	uc003hlb.2	+	29	4397	c.3957A>C	c.(3955-3957)CAA>CAC	p.Q1319H	FRAS1_uc003hkw.2_Missense_Mutation_p.Q1319H	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1318	CSPG 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TACTGTTCCAAGTGAAGACCG	0.438													C	79308837	A	C	79308837	3	2	96	1	0	0	0	0	1	0	0	0	6042	69	3	5	4071	5	FRAS1	4	79308837	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2305500	79308837	111845439	346	63308											
FRAS1	80144	broad.mit.edu	37	chr4	79369367	79369367	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagttccagttctccctcacTgatggcctccacgtggacac	9	15	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:79369367T>C	uc003hlb.2	+	44	6611	c.6171T>C	c.(6169-6171)ACT>ACC	p.T2057T		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2056	CSPG 8.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TCTCCCTCACTGATGGCCTCC	0.542													C	79369367	T	C	79369367	2	2	96	1	0	0	0	0	0	0	0	1	6042	1567	55	3		3	FRAS1	4	79369367	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	60530	79369367	111784909	347	63309											
ANTXR2	118429	broad.mit.edu	37	chr4	80905052	80905052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccattcttttaattcctcCaacccctcgaccaccataat	1	17	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:80905052C>T	uc003hlz.3	-	14	1922	c.1159G>A	c.(1159-1161)GGA>AGA	p.G387R	ANTXR2_uc003hly.3_Missense_Mutation_p.G387R|ANTXR2_uc003hlx.1_RNA|ANTXR2_uc010ijn.2_Missense_Mutation_p.G284R	NM_001145794	NP_001139266	P58335	ANTR2_HUMAN	anthrax toxin receptor 2 isoform 2	387	Cytoplasmic (Potential).					endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			ovary(1)	1						TTAATTCCTCCAACCCCTCGA	0.358									Juvenile_Hyaline_Fibromatosis				T	80905052	C	T	80905052	3	4	96	1	0	0	0	0	1	0	0	0	712	603	21	4	365	4	ANTXR2	4	80905052	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	1535685	80905052	110249224	348	63310											
PRKG2	5593	broad.mit.edu	37	chr4	82088337	82088337	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccaagcagtcaatgatcTtggttaatttatcttcaggt	7	8	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:82088337T>G	uc003hmh.2	-	5	904	c.890A>C	c.(889-891)AAG>ACG	p.K297T	PRKG2_uc011cch.1_Missense_Mutation_p.K297T	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	297	cGMP 2.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						GTCAATGATCTTGGTTAATTT	0.249													G	82088337	T	G	82088337	3	3	96	1	0	0	0	0	1	0	0	0	12523	1609	56	5	1454	5	PRKG2	4	82088337	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1183285	82088337	109065939	349	63311											
SCD5	79966	broad.mit.edu	37	chr4	83552614	83552614	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggttaaaatttaagccaaAttcactcgcagagtagtcaa	8	7	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:83552614A>C	uc003hna.2	-	5	1179	c.859T>G	c.(859-861)TTT>GTT	p.F287V		NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5 isoform a	287					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			ovary(1)	1		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TTTAAGCCAAATTCACTCGCA	0.483													C	83552614	A	C	83552614	3	2	96	1	0	0	0	0	1	0	0	0	13887	101	4	5	137	5	SCD5	4	83552614	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1464277	83552614	107601662	350	63312											
THAP9	79725	broad.mit.edu	37	chr4	83839152	83839152	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattatgttttcccaaaggTcatgccttttccttatcttc	4	10	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:83839152T>G	uc003hnt.2	+	5	1906	c.1787T>G	c.(1786-1788)GTC>GGC	p.V596G	THAP9_uc003hns.1_Missense_Mutation_p.V452G|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Missense_Mutation_p.V313G	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	596							DNA binding|metal ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5		Hepatocellular(203;0.114)				TTCCCAAAGGTCATGCCTTTT	0.348													G	83839152	T	G	83839152	3	3	96	1	0	0	0	0	1	0	0	0	15848	1667	58	5	1805	5	THAP9	4	83839152	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	286538	83839152	107315124	351	63313											
HPSE	10855	broad.mit.edu	37	chr4	84222200	84222200	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatagggtaaccgcaagtacTtggtgacattatggaggttt	13	5	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:84222200T>C	uc003hoj.3	-	11	1484	c.1385A>G	c.(1384-1386)AAG>AGG	p.K462R	HPSE_uc010ika.2_Missense_Mutation_p.K404R|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.K205R|HPSE_uc011cct.1_Missense_Mutation_p.K388R|HPSE_uc003hok.3_Missense_Mutation_p.K462R	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN	heparanase precursor	462					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	CCGCAAGTACTTGGTGACATT	0.348													C	84222200	T	C	84222200	3	2	96	1	0	0	0	0	1	0	0	0	7344	1609	56	3	254	3	HPSE	4	84222200	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	383048	84222200	106932076	352	63314											
MAPK10	5602	broad.mit.edu	37	chr4	87022315	87022315	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcctggccagtccaaagTccaggattttcaatgtgcaa	9	11	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:87022315T>G	uc003hpq.2	-	7	687	c.620A>C	c.(619-621)GAC>GCC	p.D207A	MAPK10_uc010ikg.2_Missense_Mutation_p.D169A|MAPK10_uc003hpr.2_Missense_Mutation_p.D169A|MAPK10_uc003hps.2_Missense_Mutation_p.D207A|MAPK10_uc003hpt.2_Missense_Mutation_p.D207A|MAPK10_uc003hpu.2_Missense_Mutation_p.D207A|MAPK10_uc003hpv.2_Missense_Mutation_p.D62A|MAPK10_uc003hpn.2_5'Flank|MAPK10_uc003hpo.2_Missense_Mutation_p.D62A|MAPK10_uc011ccw.1_Missense_Mutation_p.D93A|MAPK10_uc003hpp.2_Missense_Mutation_p.D62A	NM_138982	NP_620448	P53779	MK10_HUMAN	mitogen-activated protein kinase 10 isoform 2	207	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			stomach(1)|breast(1)|central_nervous_system(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CAGTCCAAAGTCCAGGATTTT	0.438													G	87022315	T	G	87022315	3	3	96	1	0	0	0	0	1	0	0	0	9272	1667	58	5	807	5	MAPK10	4	87022315	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2800115	87022315	104131961	353	63315											
PTPN13	5783	broad.mit.edu	37	chr4	87622548	87622548	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacattttatcagataattcTggacgtgaagattctgaaaa	8	5	3	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:87622548T>G	uc003hpz.2	+	7	1269	c.789T>G	c.(787-789)TCT>TCG	p.S263S	PTPN13_uc003hpy.2_Silent_p.S263S|PTPN13_uc003hqa.2_Silent_p.S263S|PTPN13_uc003hqb.2_Silent_p.S263S	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	263						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CAGATAATTCTGGACGTGAAG	0.368													G	87622548	T	G	87622548	2	3	96	1	0	0	0	0	0	0	0	1	12782	1567	55	5		5	PTPN13	4	87622548	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	600233	87622548	103531728	354	63316											
HSD17B13	345275	broad.mit.edu	37	chr4	88234976	88234976	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacttgattttgaccttaccTtgtgcttggatttttggtga	9	6	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:88234976T>G	uc003hqo.2	-	5	757	c.694A>C	c.(694-696)AGA>CGA	p.R232R	HSD17B13_uc010ikk.2_Silent_p.R196R	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	232						extracellular region	binding|oxidoreductase activity				0		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TGACCTTACCTTGTGCTTGGA	0.373													G	88234976	T	G	88234976	2	3	96	1	0	0	0	0	0	0	0	1	7382	1623	56	5		5	HSD17B13	4	88234976	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	612428	88234976	102919300	355	63317											
DMP1	1758	broad.mit.edu	37	chr4	88583146	88583146	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagtgacagcactcagtcAgaggagggcctgggctctga	14	12	3	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:88583146A>G	uc003hqv.2	+	6	320	c.216A>G	c.(214-216)TCA>TCG	p.S72S	DMP1_uc003hqw.2_Silent_p.S56S	NM_004407	NP_004398	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1 isoform 1	72					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			pancreas(1)|skin(1)	2		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GCACTCAGTCAGAGGAGGGCC	0.473													G	88583146	A	G	88583146	2	3	96	1	0	0	0	0	0	0	0	1	4583	175	7	3		3	DMP1	4	88583146	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	348170	88583146	102571130	356	63318											
DMP1	1758	broad.mit.edu	37	chr4	88584170	88584170	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatccagtgagagcctcaacTtctcagaggaaagcccggag	11	11	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:88584170T>G	uc003hqv.2	+	6	1344	c.1240T>G	c.(1240-1242)TTC>GTC	p.F414V	DMP1_uc003hqw.2_Missense_Mutation_p.F398V	NM_004407	NP_004398	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1 isoform 1	414					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			pancreas(1)|skin(1)	2		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GAGCCTCAACTTCTCAGAGGA	0.572													G	88584170	T	G	88584170	3	3	96	1	0	0	0	0	1	0	0	0	4583	1609	56	5	1258	5	DMP1	4	88584170	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1024	88584170	102570106	357	63319											
DMP1	1758	broad.mit.edu	37	chr4	88584322	88584322	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacagcagcagatccaaagaAgatagcaactccacggagag	11	10	0	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:88584322A>C	uc003hqv.2	+	6	1496	c.1392A>C	c.(1390-1392)GAA>GAC	p.E464D	DMP1_uc003hqw.2_Missense_Mutation_p.E448D	NM_004407	NP_004398	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1 isoform 1	464					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			pancreas(1)|skin(1)	2		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GATCCAAAGAAGATAGCAACT	0.488													C	88584322	A	C	88584322	3	2	96	1	0	0	0	0	1	0	0	0	4583	69	3	5	1410	5	DMP1	4	88584322	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	152	88584322	102569954	358	63320											
HERC6	55008	broad.mit.edu	37	chr4	89311919	89311919	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggggatcccactggcTcaggtggctgccggaggggc	19	11	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:89311919T>G	uc011cdi.1	+	4	735	c.552T>G	c.(550-552)GCT>GCG	p.A184A	HERC6_uc003hrp.1_RNA|HERC6_uc011cdj.1_Silent_p.A184A|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	184	RCC1 3.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(3)|ovary(1)|kidney(1)	5		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TCCCACTGGCTCAGGTGGCTG	0.657													G	89311919	T	G	89311919	2	3	96	1	0	0	0	0	0	0	0	1	7062	1538	54	5		5	HERC6	4	89311919	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	727597	89311919	101842357	359	63321											
ADH1B	125	broad.mit.edu	37	chr4	100232006	100232006	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaacgcatccagtgaaaacTtcttagccataaaatcagcc	5	11	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:100232006T>G	uc003hus.3	-	8	1103	c.1019A>C	c.(1018-1020)AAG>ACG	p.K340T	ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.K300T|ADH1B_uc011ceh.1_Missense_Mutation_p.K185T|ADH1B_uc011cei.1_Missense_Mutation_p.K300T	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	340					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			ovary(1)|breast(1)	2				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CAGTGAAAACTTCTTAGCCAT	0.358													G	100232006	T	G	100232006	3	3	96	1	0	0	0	0	1	0	0	0	308	1609	56	5	116	5	ADH1B	4	100232006	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	10920087	100232006	90922270	360	63322											
ADH1B	125	broad.mit.edu	37	chr4	100237376	100237376	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcatcagaaacctactcatTtttcaagcagtagttgctct	6	10	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:100237376T>G	uc003hus.3	-	4	427	c.343A>C	c.(343-345)AAT>CAT	p.N115H	ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.N75H|ADH1B_uc011ceh.1_Intron|ADH1B_uc011cei.1_Missense_Mutation_p.N75H	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	115					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			ovary(1)|breast(1)	2				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	ACCTACTCATTTTTCAAGCAG	0.433													G	100237376	T	G	100237376	3	3	96	1	0	0	0	0	1	0	0	0	308	1841	64	5	808	5	ADH1B	4	100237376	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5370	100237376	90916900	361	63323											
DKK2	27123	broad.mit.edu	37	chr4	107846993	107846993	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggggcagcacatgccatcTcggtggcagcgcttcttttt	12	12	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:107846993T>C	uc003hyi.2	-	2	1041	c.336A>G	c.(334-336)CGA>CGG	p.R112R	DKK2_uc010ilw.1_RNA|DKK2_uc003hyj.1_Silent_p.R112R	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	112	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		p.R112G(1)		ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ACATGCCATCTCGGTGGCAGC	0.498													C	107846993	T	C	107846993	2	2	96	1	0	0	0	0	0	0	0	1	4545	1538	54	3		3	DKK2	4	107846993	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	7609617	107846993	83307283	362	63324											
EGF	1950	broad.mit.edu	37	chr4	110862293	110862293	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtttttctgaatgggtcaAggcaagaggtaaaataccct	11	6	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:110862293A>C	uc003hzy.3	+	2	771	c.319A>C	c.(319-321)AGG>CGG	p.R107R	EGF_uc011cfu.1_Silent_p.R107R|EGF_uc011cfv.1_Silent_p.R107R	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	107	LDL-receptor class B 1.|Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GAATGGGTCAAGGCAAGAGGT	0.323													C	110862293	A	C	110862293	2	2	96	1	0	0	0	0	0	0	0	1	4962	63	3	5		5	EGF	4	110862293	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3015300	110862293	80291983	363	63325											
ANK2	287	broad.mit.edu	37	chr4	114278039	114278039	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtttccactgaggctgaAgacaggtcttatgataagct	11	8	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:114278039A>C	uc003ibe.3	+	38	8365	c.8265A>C	c.(8263-8265)GAA>GAC	p.E2755D	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.E57D|ANK2_uc011cgb.1_Missense_Mutation_p.E2770D	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2722					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)		CTGAGGCTGAAGACAGGTCTT	0.458													C	114278039	A	C	114278039	3	2	96	1	0	0	0	0	1	0	0	0	621	69	3	5	8480	5	ANK2	4	114278039	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3415746	114278039	76876237	364	63326											
SEC24D	9871	broad.mit.edu	37	chr4	119666127	119666127	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgtattaaccagttttTtgtcatctctgtttttgagc	7	7	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:119666127T>G	uc003ici.3	-	14	2068	c.1796A>C	c.(1795-1797)AAA>ACA	p.K599T	SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Missense_Mutation_p.K600T|SEC24D_uc003icl.2_RNA	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	599					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0						AACCAGTTTTTTGTCATCTCT	0.393													G	119666127	T	G	119666127	3	3	96	1	0	0	0	0	1	0	0	0	13997	1841	64	5	1342	5	SEC24D	4	119666127	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5388088	119666127	71488149	365	63327											
SYNPO2	171024	broad.mit.edu	37	chr4	119951776	119951776	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacgagtcccattgctgacTttcctgcacctccaccttac	6	16	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:119951776T>G	uc003icm.3	+	4	2042	c.1846T>G	c.(1846-1848)TTT>GTT	p.F616V	SYNPO2_uc010ina.2_Missense_Mutation_p.F616V|SYNPO2_uc010inb.2_Missense_Mutation_p.F616V|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.F544V	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	616	Pro-rich.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						CATTGCTGACTTTCCTGCACC	0.587													G	119951776	T	G	119951776	3	3	96	1	0	0	0	0	1	0	0	0	15454	1609	56	5	1860	5	SYNPO2	4	119951776	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	285649	119951776	71202500	366	63328											
KIAA1109	84162	broad.mit.edu	37	chr4	123091861	123091861	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactcaattagaagattttcTtacagaacacaattccaatg	4	8	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:123091861T>G	uc003ieh.2	+	1	104	c.59T>G	c.(58-60)CTT>CGT	p.L20R		NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	20					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						GAAGATTTTCTTACAGAACAC	0.318													G	123091861	T	G	123091861	3	3	96	1	0	0	0	0	1	0	0	0	8208	1609	56	5	61	5	KIAA1109	4	123091861	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3140085	123091861	68062415	367	63329											
IL21	59067	broad.mit.edu	37	chr4	123542014	123542014	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttaccaagtcattcacataAtttttcagctgatcaacaat	3	10	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:123542014A>C	uc003ies.2	-	1	198	c.153T>G	c.(151-153)AAT>AAG	p.N51K	uc003iet.2_Intron|IL21_uc010int.2_Missense_Mutation_p.N44K	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN	interleukin 21	44					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding				0						CATTCACATAATTTTTCAGCT	0.343													C	123542014	A	C	123542014	3	2	96	1	0	0	0	0	1	0	0	0	7670	98	4	5	355	5	IL21	4	123542014	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	450153	123542014	67612262	368	63330											
PHF17	79960	broad.mit.edu	37	chr4	129767570	129767570	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgccatgaagttgcatgActcctaccagctgaatccgg	9	13	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:129767570A>G	uc003igk.2	+	4	459	c.179A>G	c.(178-180)GAC>GGC	p.D60G	PHF17_uc003igj.2_Missense_Mutation_p.D60G|PHF17_uc003igl.2_Missense_Mutation_p.D60G|PHF17_uc011cgy.1_Missense_Mutation_p.D60G|PHF17_uc003igm.2_Missense_Mutation_p.D60G	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	PHD finger protein 17 long isoform	60					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding				0						AAGTTGCATGACTCCTACCAG	0.502													G	129767570	A	G	129767570	3	3	96	1	0	0	0	0	1	0	0	0	11828	275	10	3	189	3	PHF17	4	129767570	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	6225556	129767570	61386706	369	63331											
SMARCA5	8467	broad.mit.edu	37	chr4	144468627	144468627	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcgagaattcaaagaagaAtaagcatcaagaaagcactt	9	6	2	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:144468627A>G	uc003ijg.2	+	21	3205	c.2743A>G	c.(2743-2745)ATA>GTA	p.I915V		NM_003601	NP_003592	O60264	SMCA5_HUMAN	SWI/SNF-related matrix-associated	915					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding			skin(1)	1	all_hematologic(180;0.158)					TCAAAGAAGAATAAGCATCAA	0.383													G	144468627	A	G	144468627	3	3	96	1	0	0	0	0	1	0	0	0	14771	101	4	3	2825	3	SMARCA5	4	144468627	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	14701057	144468627	46685649	370	63332											
GYPA	2993	broad.mit.edu	37	chr4	144918742	144918742	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttaagaggatcgttccaataAtaccagccatcacacacaaa	5	11	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:144918742A>T	uc003ijn.2	-	5	433	c.317T>A	c.(316-318)ATT>AAT	p.I106N	GYPB_uc011chs.1_Intron|GYPB_uc011cht.1_RNA|GYPB_uc011chu.1_RNA|GYPB_uc010ioo.1_Intron|GYPB_uc010iop.2_RNA|GYPB_uc011chv.1_RNA|GYPB_uc011chw.1_Intron|GYPB_uc011chx.1_RNA|GYPB_uc003ijm.1_Missense_Mutation_p.I74N|GYPB_uc011chy.1_RNA|GYPB_uc011chz.1_Intron			P02724	GLPA_HUMAN	SubName: Full=Glycophorin MiX; Flags: Fragment;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)	2	all_hematologic(180;0.15)					CGTTCCAATAATACCAGCCAT	0.348													T	144918742	A	T	144918742	3	4	96	1	0	0	0	0	1	0	0	0	6908	101	4	5		5	GYPA	4	144918742	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	450115	144918742	46235534	371	63333											
NR3C2	4306	broad.mit.edu	37	chr4	149356384	149356384	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggaactcaggtgttggaaAgattggtctctagccgatcg	13	7	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:149356384A>C	uc003ilj.3	-	2	1963	c.1629T>G	c.(1627-1629)TCT>TCG	p.S543S	NR3C2_uc003ilk.3_Silent_p.S543S|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	543	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGTGTTGGAAAGATTGGTCTC	0.473													C	149356384	A	C	149356384	2	2	96	1	0	0	0	0	0	0	0	1	10631	59	3	5		5	NR3C2	4	149356384	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4437642	149356384	41797892	372	63334											
KIAA0922	23240	broad.mit.edu	37	chr4	154553945	154553945	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttaaactgcaccctggagaAcggcgtgccttgtgtgattc	11	11	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:154553945A>C	uc003inm.3	+	32	4332	c.4280A>C	c.(4279-4281)AAC>ACC	p.N1427T	KIAA0922_uc010ipp.2_Missense_Mutation_p.N1428T|KIAA0922_uc010ipq.2_Missense_Mutation_p.N1196T	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	1427	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				ACCCTGGAGAACGGCGTGCCT	0.537													C	154553945	A	C	154553945	3	2	96	1	0	0	0	0	1	0	0	0	8201	43	2	5	4409	5	KIAA0922	4	154553945	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	5197561	154553945	36600331	373	63335											
DCHS2	54798	broad.mit.edu	37	chr4	155243495	155243495	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacattacctgaatattaacAactgcctgtccttgaagagg	7	9	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:155243495A>T	uc003inw.2	-	13	2799	c.2799T>A	c.(2797-2799)GTT>GTA	p.V933V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	933	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAATATTAACAACTGCCTGTC	0.353													T	155243495	A	T	155243495	2	4	96	1	0	0	0	0	0	0	0	1	4288	117	5	5		5	DCHS2	4	155243495	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	689550	155243495	35910781	374	63336											
NPY2R	4887	broad.mit.edu	37	chr4	156135225	156135225	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcttatagatagtaccaAgctgattgaggtacaagttg	11	5	0	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:156135225A>G	uc003ioq.2	+	2	629	c.134A>G	c.(133-135)AAG>AGG	p.K45R	NPY2R_uc003ior.2_Missense_Mutation_p.K45R	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	45	Extracellular (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			lung(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0854)				GATAGTACCAAGCTGATTGAG	0.468													G	156135225	A	G	156135225	3	3	96	1	0	0	0	0	1	0	0	0	10609	72	3	3	136	3	NPY2R	4	156135225	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	891730	156135225	35019051	375	63337											
HMGB2	3148	broad.mit.edu	37	chr4	174254250	174254250	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taggagcattggggtcctttTtcttccccttcttatcacct	7	12	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:174254250T>G	uc011ckc.1	-	2	386	c.266A>C	c.(265-267)AAA>ACA	p.K89T	HMGB2_uc003ita.3_Missense_Mutation_p.K89T|HMGB2_uc003itb.2_Missense_Mutation_p.K89T|HMGB2_uc003itc.2_Missense_Mutation_p.K89T	NM_001130689	NP_001124161	P26583	HMGB2_HUMAN	high-mobility group box 2	89					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding				0		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GGGGTCCTTTTTCTTCCCCTT	0.398													G	174254250	T	G	174254250	3	3	96	1	0	0	0	0	1	0	0	0	7226	1841	64	5	375	5	HMGB2	4	174254250	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	18119025	174254250	16900026	376	63338											
FBXO8	26269	broad.mit.edu	37	chr4	175183927	175183927	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taacttacccttgccagagaAgttcatcattcgcaaggtcc	7	12	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:175183927A>C	uc003itp.2	-	2	1167	c.317T>G	c.(316-318)CTT>CGT	p.L106R	FBXO8_uc003itq.2_Missense_Mutation_p.L65R	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN	F-box only protein 8	106	F-box.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(2)	2		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		TTGCCAGAGAAGTTCATCATT	0.383													C	175183927	A	C	175183927	3	2	96	1	0	0	0	0	1	0	0	0	5761	72	3	5	662	5	FBXO8	4	175183927	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	929677	175183927	15970349	377	63339											
STOX2	56977	broad.mit.edu	37	chr4	184938289	184938289	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaagcattgttgaaagtaAccgtcgtcagaaccccgctt	8	11	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:184938289A>C	uc003ivz.1	+	4	4068	c.2633A>C	c.(2632-2634)AAC>ACC	p.N878T	uc003iwb.1_5'Flank|STOX2_uc003iwa.1_3'UTR	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	storkhead box 2	878					embryo development|maternal placenta development						0		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GTTGAAAGTAACCGTCGTCAG	0.493													C	184938289	A	C	184938289	3	2	96	1	0	0	0	0	1	0	0	0	15319	43	2	5	2647	5	STOX2	4	184938289	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	9754362	184938289	6215987	378	63340											
ENPP6	133121	broad.mit.edu	37	chr4	185012349	185012349	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttatgcaagcaggaagagaAgaatcagtgccagggcacag	14	7	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr4:185012349A>T	uc003iwc.2	-	8	1446	c.1304T>A	c.(1303-1305)CTT>CAT	p.L435H		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	435	Helical; (Potential).				lipid catabolic process	extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)	1		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CAGGAAGAGAAGAATCAGTGC	0.527													T	185012349	A	T	185012349	3	4	96	1	0	0	0	0	1	0	0	0	5134	72	3	5	22	5	ENPP6	4	185012349	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	74060	185012349	6141927	379	63341											
AHRR	57491	broad.mit.edu	37	chr5	432582	432582	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgttcttcacagagtaAaagccaccaccagtctgtgc	8	12	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:432582A>C	uc003jav.2	+	10	1023	c.979A>C	c.(979-981)AAA>CAA	p.K327Q	AHRR_uc003jaw.2_Missense_Mutation_p.K305Q|AHRR_uc010isy.2_Missense_Mutation_p.K155Q|AHRR_uc010isz.2_Missense_Mutation_p.K305Q|AHRR_uc003jax.2_Missense_Mutation_p.K68Q|AHRR_uc003jay.2_Missense_Mutation_p.K165Q|AHRR_uc003jaz.2_5'UTR	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TCACAGAGTAAAAGCCACCAC	0.398													C	432582	A	C	432582	3	2	96	1	0	0	0	0	1	0	0	0	417	15	1	5	1017	5	AHRR	5	432582	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08		432582	180482678	380	63342											
ADAMTS16	170690	broad.mit.edu	37	chr5	5319213	5319213	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagccacaagttctacggcAagcagtgctgcaagacttgc	11	12	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:5319213A>G	uc003jdl.2	+	23	3775	c.3637A>G	c.(3637-3639)AAG>GAG	p.K1213E		NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1213	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						GTTCTACGGCAAGCAGTGCTG	0.517													G	5319213	A	G	5319213	3	3	96	1	0	0	0	0	1	0	0	0	261	131	5	3	3727	3	ADAMTS16	5	5319213	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4886631	5319213	175596047	381	63343											
KIAA0947	23379	broad.mit.edu	37	chr5	5460799	5460799	+	Frame_Shift_Del	DEL	A	A	-													tttcacagcaacactgagagAatcttctgccacacactcct							TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:5460798_5460798GA>G	uc003jdm.4	+	12	1573	c.1351_1351GA>G	c.(1351-1353)gaafs	p.E451fs		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	451										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AACACTGAGAGAATCTTCTGC	0.413													-	5460799	A	-	5460799	7	5	96	1	0	1	0	1	0	0	0	0	8202	246	9	0	1402	0	KIAA0947	5	5460799	Frame_Shift_Del	DEL	A	TCGA-BR-8589-01A-11D-2394-08	141586	5460799	175454461	382	63344											
TAS2R1	50834	broad.mit.edu	37	chr5	9629253	9629253	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaacttctctctcactgacAgcacttactgtggaggagga	9	12	2	1	rs140442651	by1000genomes	TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:9629253A>C	uc003jem.1	-	1	1211	c.892T>G	c.(892-894)TGT>GGT	p.C298G		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	taste receptor T2R1	298	Cytoplasmic (Potential).				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			ovary(3)	3						TCTCACTGACAGCACTTACTG	0.413													C	9629253	A	C	9629253	3	2	96	1	0	0	0	0	1	0	0	0	15562	188	7	5	11	5	TAS2R1	5	9629253	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4168454	9629253	171286007	383	63345											
DNAH5	1767	broad.mit.edu	37	chr5	13876847	13876847	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaactaattttacaatctcTttgttttcagaaacattctt	3	7	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:13876847T>C	uc003jfd.2	-	22	3384	c.3342A>G	c.(3340-3342)AAA>AAG	p.K1114K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1114	Stem (By similarity).				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)					TTACAATCTCTTTGTTTTCAG	0.368									Kartagener_syndrome				C	13876847	T	C	13876847	2	2	96	1	0	0	0	0	0	0	0	1	4604	1606	56	3		3	DNAH5	5	13876847	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4247594	13876847	167038413	384	63346											
DNAH5	1767	broad.mit.edu	37	chr5	13894825	13894825	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaggtcagtgcagccaAgccaggttggagagcttcat	13	10	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:13894825A>C	uc003jfd.2	-	16	2407	c.2365T>G	c.(2365-2367)TTG>GTG	p.L789V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	789	Potential.|Stem (By similarity).				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)					AGTGCAGCCAAGCCAGGTTGG	0.413									Kartagener_syndrome				C	13894825	A	C	13894825	3	2	96	1	0	0	0	0	1	0	0	0	4604	69	3	5	11765	5	DNAH5	5	13894825	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	17978	13894825	167020435	385	63347											
FAM105A	54491	broad.mit.edu	37	chr5	14602336	14602336	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcacattaaatgtgttcgAcaagtaaggagagataacta	8	6	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:14602336A>C	uc003jfj.2	+	5	506	c.393A>C	c.(391-393)CGA>CGC	p.R131R		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	hypothetical protein LOC54491	131										ovary(1)	1	Lung NSC(4;0.00592)					AATGTGTTCGACAAGTAAGGA	0.353													C	14602336	A	C	14602336	2	2	96	1	0	0	0	0	0	0	0	1	5387	262	10	5		5	FAM105A	5	14602336	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	707511	14602336	166312924	386	63348											
CDH9	1007	broad.mit.edu	37	chr5	26890056	26890056	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagggatgtggctactttgTtttgggttatctgcaacgag	13	6	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:26890056T>G	uc003jgs.1	-	9	1570	c.1401A>C	c.(1399-1401)AAA>AAC	p.K467N	CDH9_uc011cnv.1_Missense_Mutation_p.K60N	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	467	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						GGCTACTTTGTTTTGGGTTAT	0.383													G	26890056	T	G	26890056	3	3	96	1	0	0	0	0	1	0	0	0	3117	1722	60	5	984	5	CDH9	5	26890056	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	12287720	26890056	154025204	387	63349											
ADAMTS12	81792	broad.mit.edu	37	chr5	33684103	33684103	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggcttctgcttggcaagTtgtgcctctcccacttctcc	9	14	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:33684103T>G	uc003jia.1	-	4	855	c.692A>C	c.(691-693)AAC>ACC	p.N231T	ADAMTS12_uc010iuq.1_Missense_Mutation_p.N231T	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	231					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GCTTGGCAAGTTGTGCCTCTC	0.493										HNSCC(64;0.19)			G	33684103	T	G	33684103	3	3	96	1	0	0	0	0	1	0	0	0	257	1725	60	5	4176	5	ADAMTS12	5	33684103	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	6794047	33684103	147231157	388	63350											
SPEF2	79925	broad.mit.edu	37	chr5	35649522	35649522	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaggatctccaagcaaaAgaaaggtgagatgtgagcta	11	5	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:35649522A>G	uc003jjo.2	+	6	897	c.786A>G	c.(784-786)AAA>AAG	p.K262K	SPEF2_uc003jjn.1_Silent_p.K262K|SPEF2_uc003jjq.3_Silent_p.K262K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	262					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCAAGCAAAAGAAAGGTGAG	0.323													G	35649522	A	G	35649522	2	3	96	1	0	0	0	0	0	0	0	1	15034	69	3	3		3	SPEF2	5	35649522	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1965419	35649522	145265738	389	63351											
NIPBL	25836	broad.mit.edu	37	chr5	37010309	37010309	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaaggactctaatgcagaAgaagattcaaataaaaaagt	9	4	2	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:37010309A>C	uc003jkl.3	+	21	5041	c.4542A>C	c.(4540-4542)GAA>GAC	p.E1514D	NIPBL_uc003jkk.3_Missense_Mutation_p.E1514D	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1514					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTAATGCAGAAGAAGATTCAA	0.318													C	37010309	A	C	37010309	3	2	96	1	0	0	0	0	1	0	0	0	10428	69	3	5	4620	5	NIPBL	5	37010309	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1360787	37010309	143904951	390	63352											
C5orf42	65250	broad.mit.edu	37	chr5	37179471	37179471	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttattgacttacttcttctaActgctgtggtaaagtcatca	6	8	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:37179471A>C	uc011cpa.1	-	29	6043	c.5812T>G	c.(5812-5814)TTA>GTA	p.L1938V	C5orf42_uc011coy.1_Missense_Mutation_p.L438V|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.L1013V	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1938										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)			ACTTCTTCTAACTGCTGTGGT	0.299													C	37179471	A	C	37179471	3	2	96	1	0	0	0	0	1	0	0	0	2301	40	2	5	3877	5	C5orf42	5	37179471	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	169162	37179471	143735789	391	63353											
LIFR	3977	broad.mit.edu	37	chr5	38484884	38484884	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaactattaccattctcGtttccgatagcaaaggatac	7	10	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:38484884G>A	uc010ive.1	-	18	2916	c.2584C>T	c.(2584-2586)CGA>TGA	p.R862*	LIFR_uc003jli.2_Nonsense_Mutation_p.R862*	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	862	Cytoplasmic (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					TACCATTCTCGTTTCCGATAG	0.363			T	PLAG1	salivary adenoma								A	38484884	G	A	38484884	4	1	96	1	0	0	0	0	0	1	0	0	8780	1153	40	1	721	1	LIFR	5	38484884	Nonsense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	1305413	38484884	142430376	392	63354											
MGC42105	167359	broad.mit.edu	37	chr5	43245956	43245956	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcggcgcgacagtgtagaaAgtggctgtcagaccgagagt	15	8	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:43245956A>C	uc003jno.2	+	2	960	c.79A>C	c.(79-81)AGT>CGT	p.S27R		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	serine/threonine-protein kinase NIM1	27							ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1)	9						CAGTGTAGAAAGTGGCTGTCA	0.597													C	43245956	A	C	43245956	3	2	96	1	0	0	0	0	1	0	0	0	9552	72	3	5	81	5	MGC42105	5	43245956	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4761072	43245956	137669304	393	63355											
IPO11	51194	broad.mit.edu	37	chr5	61762980	61762980	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcttctggaatttataattTtgcctgctctctgtggaatc	8	8	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:61762980T>G	uc003jtc.2	+	6	729	c.539T>G	c.(538-540)TTT>TGT	p.F180C	IPO11_uc011cqr.1_Missense_Mutation_p.F220C|IPO11_uc003jtb.1_Missense_Mutation_p.F180C	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2	180						cytoplasm|nucleus	protein binding			lung(2)|skin(2)	4		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		ATTTATAATTTTGCCTGCTCT	0.343													G	61762980	T	G	61762980	3	3	96	1	0	0	0	0	1	0	0	0	7793	1841	64	5	681	5	IPO11	5	61762980	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	18517024	61762980	119152280	394	63356											
SLC30A5	64924	broad.mit.edu	37	chr5	68423839	68423839	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttatttgacagatacagaaAattgaaggattaatatcata	6	3	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:68423839A>C	uc003jvh.2	+	15	2208	c.2007A>C	c.(2005-2007)AAA>AAC	p.K669N	SLC30A5_uc003jvj.2_RNA|SLC30A5_uc003jvk.2_Intron	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter),	669	Cytoplasmic (Potential).				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			central_nervous_system(1)	1		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		AGATACAGAAAATTGAAGGAT	0.373													C	68423839	A	C	68423839	3	2	96	1	0	0	0	0	1	0	0	0	14558	11	1	5	2153	5	SLC30A5	5	68423839	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	6660859	68423839	112491421	395	63357											
RAD17	5884	broad.mit.edu	37	chr5	68687699	68687699	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaaaggaatgtctttaAaatcagatgctgtgctgtca	10	5	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:68687699A>T	uc003jwo.2	+	10	1143	c.1081A>T	c.(1081-1083)AAA>TAA	p.K361*	RAD17_uc003jwg.2_Nonsense_Mutation_p.K350*|RAD17_uc003jwh.2_Nonsense_Mutation_p.K350*|RAD17_uc003jwi.2_Nonsense_Mutation_p.K350*|RAD17_uc003jwj.2_Nonsense_Mutation_p.K350*|RAD17_uc003jwk.2_Nonsense_Mutation_p.K350*|RAD17_uc003jwl.2_Nonsense_Mutation_p.K350*|RAD17_uc003jwm.2_Nonsense_Mutation_p.K185*|RAD17_uc003jwn.2_Nonsense_Mutation_p.K264*|RAD17_uc003jwp.2_5'Flank	NM_133339	NP_579917	O75943	RAD17_HUMAN	RAD17 homolog isoform 2	361					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding				0		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AATGTCTTTAAAATCAGATGC	0.308								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					T	68687699	A	T	68687699	4	4	96	1	0	0	0	0	0	1	0	0	12979	15	1	5	1132	5	RAD17	5	68687699	Nonsense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	263860	68687699	112227561	396	63358											
BDP1	55814	broad.mit.edu	37	chr5	70818663	70818663	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagagtctgctttggcaaaAatagatgcggaattagaaga	11	4	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:70818663A>C	uc003kbp.1	+	24	5537	c.5274A>C	c.(5272-5274)AAA>AAC	p.K1758N	BDP1_uc003kbo.2_Missense_Mutation_p.K1758N|BDP1_uc003kbq.1_RNA	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1758					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CTTTGGCAAAAATAGATGCGG	0.383													C	70818663	A	C	70818663	3	2	96	1	0	0	0	0	1	0	0	0	1395	11	1	5	5368	5	BDP1	5	70818663	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2130964	70818663	110096597	397	63359											
ZNF366	167465	broad.mit.edu	37	chr5	71756638	71756638	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgttcacgtccaccctctccAccttctgcttggtctcctcg	6	19	4	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:71756638A>G	uc003kce.1	-	2	872	c.686T>C	c.(685-687)GTG>GCG	p.V229A		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CACCCTCTCCACCTTCTGCTT	0.647													G	71756638	A	G	71756638	3	3	96	1	0	0	0	0	1	0	0	0	17867	159	6	3	1564	3	ZNF366	5	71756638	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	937975	71756638	109158622	398	63360											
POLK	51426	broad.mit.edu	37	chr5	74872668	74872668	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagtcttgatgaagcctacTtgaatataacaaagcactta	7	7	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:74872668T>G	uc003kdw.2	+	6	700	c.604T>G	c.(604-606)TTG>GTG	p.L202V	POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003kea.2_Missense_Mutation_p.L202V|POLK_uc003keb.2_Missense_Mutation_p.L202V|POLK_uc010izq.2_Missense_Mutation_p.L202V|POLK_uc003kec.2_Missense_Mutation_p.L112V|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Missense_Mutation_p.L112V|POLK_uc003kee.2_Missense_Mutation_p.L202V|POLK_uc003kef.2_Missense_Mutation_p.L112V	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	202	UmuC.				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TGAAGCCTACTTGAATATAAC	0.333								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					G	74872668	T	G	74872668	3	3	96	1	0	0	0	0	1	0	0	0	12204	1606	56	5	622	5	POLK	5	74872668	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3116030	74872668	106042592	399	63361											
F2R	2149	broad.mit.edu	37	chr5	76029324	76029324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catatacaaaaagctgttaaCttaggaaaagggactgctgg	10	6	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:76029324C>T	uc003ken.3	+	2	1539	c.1274C>T	c.(1273-1275)ACT>ATT	p.T425I		NM_001992	NP_001983	P25116	PAR1_HUMAN	coagulation factor II receptor precursor	425	Cytoplasmic (Potential).				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			ovary(3)	3		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	AAGCTGTTAACTTAGGAAAAG	0.393													T	76029324	C	T	76029324	3	4	96	1	0	0	0	0	1	0	0	0	5343	565	20	4	1280	4	F2R	5	76029324	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	1156656	76029324	104885936	400	63362											
WDR41	55255	broad.mit.edu	37	chr5	76732142	76732142	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagctccagtgaacatgaagTagcattttcttgctgctttt	8	8	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:76732142T>C	uc003kff.1	-	12	1458	c.1171A>G	c.(1171-1173)ACT>GCT	p.T391A	WDR41_uc011csy.1_Missense_Mutation_p.T333A|WDR41_uc011csz.1_Missense_Mutation_p.T336A	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	391											0		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		GAACATGAAGTAGCATTTTCT	0.398													C	76732142	T	C	76732142	3	2	96	1	0	0	0	0	1	0	0	0	17291	1638	57	3	216	3	WDR41	5	76732142	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	702818	76732142	104183118	401	63363											
BHMT	635	broad.mit.edu	37	chr5	78426886	78426886	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcagaaagaagccacaActgagcagcagctgaaagag	12	9	0	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:78426886A>G	uc003kfu.3	+	8	1273	c.1168A>G	c.(1168-1170)ACT>GCT	p.T390A	BHMT_uc011cti.1_Missense_Mutation_p.T237A	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	betaine-homocysteine methyltransferase	390					protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	AGAAGCCACAACTGAGCAGCA	0.463													G	78426886	A	G	78426886	3	3	96	1	0	0	0	0	1	0	0	0	1425	43	2	3	1198	3	BHMT	5	78426886	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1694744	78426886	102488374	402	63364											
CMYA5	202333	broad.mit.edu	37	chr5	79025083	79025083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagatgttccaacaaacaaAaaaggcagtcctttaacttc	5	10	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:79025083A>C	uc003kgc.2	+	2	567	c.495A>C	c.(493-495)AAA>AAC	p.K165N		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	165						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAACAAACAAAAAAGGCAGTC	0.388													C	79025083	A	C	79025083	3	2	96	1	0	0	0	0	1	0	0	0	3590	11	1	5	501	5	CMYA5	5	79025083	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	598197	79025083	101890177	403	63365											
THBS4	7060	broad.mit.edu	37	chr5	79372825	79372825	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacctggtgccccctggaccAgacaactgccggctggtccc	12	17	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:79372825A>G	uc003kgh.2	+	17	2363	c.2040A>G	c.(2038-2040)CCA>CCG	p.P680P	uc003kgi.3_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	680	TSP type-3 7.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CCCCTGGACCAGACAACTGCC	0.582													G	79372825	A	G	79372825	2	3	96	1	0	0	0	0	0	0	0	1	15853	175	7	3		3	THBS4	5	79372825	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	347742	79372825	101542435	404	63366											
SPZ1	84654	broad.mit.edu	37	chr5	79616290	79616290	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttaaaaatatggcaggtTttgaagagaagatcacagaa	9	4	2	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:79616290T>G	uc003kgn.2	+	1	501	c.256T>G	c.(256-258)TTT>GTT	p.F86V	uc011ctk.1_RNA	NM_032567	NP_115956	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	86	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(1)	1		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TATGGCAGGTTTTGAAGAGAA	0.338													G	79616290	T	G	79616290	3	3	96	1	0	0	0	0	1	0	0	0	15126	1841	64	5	258	5	SPZ1	5	79616290	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	243465	79616290	101298970	405	63367											
TRIM36	55521	broad.mit.edu	37	chr5	114480405	114480405	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acataattcacagtacatgtTtattctctctgtttcatgtt	4	8	4	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:114480405T>G	uc003kqs.2	-	4	1170	c.661A>C	c.(661-663)AAC>CAC	p.N221H	TRIM36_uc011cwc.1_Missense_Mutation_p.N209H|TRIM36_uc003kqt.2_Missense_Mutation_p.N66H	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	tripartite motif-containing 36 isoform 1	221	B box-type 2.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			ovary(4)|lung(2)|breast(2)	8		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CAGTACATGTTTATTCTCTCT	0.378													G	114480405	T	G	114480405	3	3	96	1	0	0	0	0	1	0	0	0	16507	1841	64	5	1553	5	TRIM36	5	114480405	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	34864115	114480405	66434855	406	63368											
ATG12	9140	broad.mit.edu	37	chr5	115173356	115173356	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggccacaagtttaagaaacTttttgatgaagtcaatgagt	9	5	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:115173356T>G	uc003krh.2	-	2	519	c.410A>C	c.(409-411)AAG>ACG	p.K137T	ATG12_uc003kri.2_Intron|ATG12_uc003krj.2_RNA	NM_004707	NP_004698	O94817	ATG12_HUMAN	APG12 autophagy 12-like	90					autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding				0		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		TTTAAGAAACTTTTTGATGAA	0.398													G	115173356	T	G	115173356	3	3	96	1	0	0	0	0	1	0	0	0	1090	1609	56	5	165	5	ATG12	5	115173356	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	692951	115173356	65741904	407	63369											
DMXL1	1657	broad.mit.edu	37	chr5	118502338	118502339	+	Frame_Shift_Ins	INS	-	-	T													aaaacaccaggatgacacagINSttttttggacacaattttga							TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:118502338_118502339insT	uc003ksd.2	+	22	5179_5180	c.4998_4999insT	c.(4996-5001)CAGTTTfs	p.Q1666fs	DMXL1_uc010jcl.1_Frame_Shift_Ins_p.Q1666fs	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1666_1667										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GGATGACACAGTTTTTTGGACA	0.327													T	118502339	-	T	118502338	7	5	96	1	0	1	1	0	0	0	0	0	4594	1020	36	0	5084	0	DMXL1	5	118502338	Frame_Shift_Ins	INS	-	TCGA-BR-8589-01A-11D-2394-08	3328982	118502338	62412922	408	63370	304	2									
DMXL1	1657	broad.mit.edu	37	chr5	118502339	118502340	+	Frame_Shift_Ins	INS	-	-	T													aaacaccaggatgacacagtINStttttggacacaattttgag							TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:118502338_118502339G>GT	uc010jcl.1	+	21	5179_5180	c.4998_4999G>GT	c.(4996-5001)cagtttfs	p.Q1666fs	DMXL1_uc003ksd.2_Frame_Shift_Ins_p.Q1666fs|DMXL1_uc021ycw.1_Frame_Shift_Ins_p.Q1493fs	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1666										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GGATGACACAGTTTTTTGGACA	0.327													T	118502340	-	T	118502339	7	5	96	1	0	1	1	0	0	0	0	0	4594	1725	60	0	5085	0	DMXL1	5	118502339	Frame_Shift_Ins	INS	-	TCGA-BR-8589-01A-11D-2394-08	1	118502339	62412921	409	63371	304	2									
HSD17B4	3295	broad.mit.edu	37	chr5	118829639	118829640	+	Missense_Mutation	DNP	AA	AA	TG													cagcaagcctcagagtatccAaggtaaagagagtccccgtc							TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:118829639_118829640AA>TG	uc003ksj.2	+	11	989_990	c.866_867AA>TG	c.(865-867)CAA>CTG	p.Q289L	HSD17B4_uc011cwg.1_Missense_Mutation_p.Q265L|HSD17B4_uc011cwh.1_Missense_Mutation_p.Q271L|HSD17B4_uc011cwi.1_Missense_Mutation_p.Q314L|HSD17B4_uc003ksk.3_Missense_Mutation_p.Q142L|HSD17B4_uc011cwj.1_Missense_Mutation_p.Q142L|HSD17B4_uc010jcn.1_5'UTR	NM_000414	NP_000405	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	289	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			ovary(1)|pancreas(1)	2		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	CAGAGTATCCAAGGTAAAGAGA	0.441													TG	118829640	AA	TG	118829639	3	4	96	1	0	0	0	0	1	0	0	0	7386	130	5	5	908	5	HSD17B4	5	118829639	Missense_Mutation	DNP	AA	TCGA-BR-8589-01A-11D-2394-08	327300	118829639	62085621	410	63372											
LOX	4015	broad.mit.edu	37	chr5	121413231	121413231	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggttactgagcgcaggaacTtctcccggcgctgtctggtt	13	11	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:121413231T>G	uc003ksu.2	-	1	825	c.450A>C	c.(448-450)GAA>GAC	p.E150D	LOX_uc010jcq.2_5'Flank|LOX_uc011cwk.1_5'Flank|LOX_uc010jcr.2_5'Flank	NM_002317	NP_002308	P28300	LYOX_HUMAN	lysyl oxidase preproprotein	150					protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			lung(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		GCGCAGGAACTTCTCCCGGCG	0.647													G	121413231	T	G	121413231	3	3	96	1	0	0	0	0	1	0	0	0	8898	1606	56	5	831	5	LOX	5	121413231	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2583592	121413231	59502029	411	63373											
SNCAIP	9627	broad.mit.edu	37	chr5	121786636	121786636	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgaggaaggctgaccgAccaaggccgcagcccattgt	13	13	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:121786636A>C	uc003ksw.1	+	10	2300	c.2094A>C	c.(2092-2094)CGA>CGC	p.R698R	SNCAIP_uc011cwl.1_Silent_p.R256R|SNCAIP_uc003ksx.1_Silent_p.R745R|SNCAIP_uc003ksy.1_Silent_p.R332R|SNCAIP_uc003ksz.1_Silent_p.R332R|SNCAIP_uc010jcu.2_Silent_p.R294R|SNCAIP_uc011cwm.1_Silent_p.R332R|SNCAIP_uc003kta.1_Silent_p.R330R|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Silent_p.R392R|SNCAIP_uc010jcx.1_Silent_p.R638R|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Silent_p.R214R	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	698					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGGCTGACCGACCAAGGCCGC	0.552													C	121786636	A	C	121786636	2	2	96	1	0	0	0	0	0	0	0	1	14841	262	10	5		5	SNCAIP	5	121786636	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	373405	121786636	59128624	412	63374											
ZNF608	57507	broad.mit.edu	37	chr5	124080350	124080350	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatttattagcatccttagaAgttttactccttttcacttt	4	8	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:124080350A>C	uc003ktq.1	-	1	456	c.333T>G	c.(331-333)ACT>ACG	p.T111T	ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Silent_p.T111T|ZNF608_uc003ktt.1_Silent_p.T111T	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	111						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CATCCTTAGAAGTTTTACTCC	0.493													C	124080350	A	C	124080350	2	2	96	1	0	0	0	0	0	0	0	1	18031	59	3	5		5	ZNF608	5	124080350	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2293714	124080350	56834910	413	63375											
GRAMD3	65983	broad.mit.edu	37	chr5	125819177	125819177	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttcaatgatgaattctcagAtctggatggagtggttcaac	10	6	4	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:125819177A>T	uc003ktu.2	+	9	1188	c.758A>T	c.(757-759)GAT>GTT	p.D253V	GRAMD3_uc011cwt.1_Missense_Mutation_p.D268V|GRAMD3_uc011cwv.1_Missense_Mutation_p.D261V|GRAMD3_uc011cww.1_Missense_Mutation_p.D149V|GRAMD3_uc011cwx.1_RNA|GRAMD3_uc011cwy.1_Missense_Mutation_p.D144V|GRAMD3_uc011cwz.1_Missense_Mutation_p.D237V|GRAMD3_uc011cwu.1_Missense_Mutation_p.D237V	NM_023927	NP_076416	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3 isoform 2	253										central_nervous_system(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		GAATTCTCAGATCTGGATGGA	0.428													T	125819177	A	T	125819177	3	4	96	1	0	0	0	0	1	0	0	0	6751	333	12	5	1006	5	GRAMD3	5	125819177	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1738827	125819177	55096083	414	63376											
SLC12A2	6558	broad.mit.edu	37	chr5	127483312	127483312	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttttgtcacttttatttaAggtaatgagtatggtgtcag	9	3	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:127483312A>G	uc003kus.2	+	11	1938	c.1774_splice	c.e11-2	p.V592_splice	SLC12A2_uc010jdf.2_Splice_Site|SLC12A2_uc010jdg.2_Splice_Site_p.V592_splice	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12						potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			ovary(3)	3		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTTTTATTTAAGGTAATGAGT	0.353													G	127483312	A	G	127483312	5	3	96	1	0	0	0	0	0	0	1	0	14383	86	3	3	1814	3	SLC12A2	5	127483312	Splice_Site	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1664135	127483312	53431948	415	63377											
ADAMTS19	171019	broad.mit.edu	37	chr5	128862008	128862008	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctaggtctagaaaaatagcAgaaagtggaagagggaaacg	13	5	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:128862008A>C	uc003kvb.1	+	4	927	c.927A>C	c.(925-927)GCA>GCC	p.A309A	ADAMTS19_uc003kvc.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	309					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GAAAAATAGCAGAAAGTGGAA	0.353													C	128862008	A	C	128862008	2	2	96	1	0	0	0	0	0	0	0	1	264	175	7	5		5	ADAMTS19	5	128862008	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1378696	128862008	52053252	416	63378											
HSPA4	3308	broad.mit.edu	37	chr5	132431895	132431895	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccaatcgagaatcagctaTtatggcagatagacagagag	11	7	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:132431895T>G	uc003kyj.2	+	14	2037	c.1756T>G	c.(1756-1758)TTA>GTA	p.L586V		NM_002154	NP_002145	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	586				NQLL -> ESAI (in Ref. 4; AAA02807).	cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			lung(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAATCAGCTATTATGGCAGAT	0.398													G	132431895	T	G	132431895	3	3	96	1	0	0	0	0	1	0	0	0	7412	1490	52	5	1810	5	HSPA4	5	132431895	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3569887	132431895	48483365	417	63379											
CDKL3	51265	broad.mit.edu	37	chr5	133657596	133657596	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccagatatccacaggtcTgaaacagatcagggaaaaaa	9	9	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:133657596T>C	uc003kzf.3	-	5	659	c.540_splice	c.e5-1	p.K180_splice	CDKL3_uc011cxm.1_Splice_Site|CDKL3_uc011cxn.1_Splice_Site|CDKL3_uc010jdw.2_Splice_Site|CDKL3_uc011cxo.1_Splice_Site|CDKL3_uc011cxp.1_Splice_Site|CDKL3_uc011cxq.1_Splice_Site|CDKL3_uc003kzg.3_Splice_Site_p.K180_splice|CDKL3_uc011cxr.1_Splice_Site_p.K180_splice	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3 isoform 1							cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCACAGGTCTGAAACAGATC	0.328													C	133657596	T	C	133657596	5	2	96	1	0	0	0	0	0	0	1	0	3155	1594	55	3	1280	3	CDKL3	5	133657596	Splice_Site	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1225701	133657596	47257664	418	63380											
TXNDC15	79770	broad.mit.edu	37	chr5	134223395	134223395	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgttttagttgcagaggaAagtggtcgcttatggtcaga	13	5	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:134223395A>C	uc003lac.1	+	2	772	c.114A>C	c.(112-114)GAA>GAC	p.E38D	TXNDC15_uc010jdy.1_Intron|TXNDC15_uc011cxv.1_RNA	NM_024715	NP_078991	Q96J42	TXD15_HUMAN	disulfide isomerase precursor	38	Extracellular (Potential).				cell redox homeostasis	integral to membrane				ovary(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGCAGAGGAAAGTGGTCGCT	0.507													C	134223395	A	C	134223395	3	2	96	1	0	0	0	0	1	0	0	0	16791	11	1	5	120	5	TXNDC15	5	134223395	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	565799	134223395	46691865	419	63381											
TRPC7	57113	broad.mit.edu	37	chr5	135567231	135567231	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaaagttttaaaactttcTtcaaccctgcaaagaaacag	4	9	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:135567231T>G	uc003lbn.1	-	7	1851	c.1848A>C	c.(1846-1848)GAA>GAC	p.E616D	TRPC7_uc010jef.1_Missense_Mutation_p.E553D|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.E547D|TRPC7_uc010jei.1_Missense_Mutation_p.E492D|TRPC7_uc010jej.1_Missense_Mutation_p.E168D	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	617	Extracellular (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAAAACTTTCTTCAACCCTGC	0.323													G	135567231	T	G	135567231	3	3	96	1	0	0	0	0	1	0	0	0	16581	1606	56	5	757	5	TRPC7	5	135567231	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1343836	135567231	45348029	420	63382											
FAM13B	51306	broad.mit.edu	37	chr5	137275969	137275969	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacttcaagaagcctaagcTtggctttaattttcttgtac	7	8	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:137275969T>G	uc003lbz.2	-	23	3227	c.2693A>C	c.(2692-2694)AAG>ACG	p.K898T	FAM13B_uc003lcb.2_Missense_Mutation_p.K774T|FAM13B_uc003lca.2_Missense_Mutation_p.K870T|PKD2L2_uc003lbw.1_3'UTR|PKD2L2_uc003lbx.2_3'UTR|PKD2L2_uc003lby.2_Intron|PKD2L2_uc011cyi.1_3'UTR	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	hypothetical protein LOC51306 isoform 1	898					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						AAGCCTAAGCTTGGCTTTAAT	0.348													G	137275969	T	G	137275969	3	3	96	1	0	0	0	0	1	0	0	0	5453	1609	56	5	58	5	FAM13B	5	137275969	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1708738	137275969	43639291	421	63383											
PCDHA2	56146	broad.mit.edu	37	chr5	140175798	140175798	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagcgccctggaccgcgagAgcgtgtcagcctatgagctg	14	13	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:140175798A>G	uc003lhd.2	+	1	1355	c.1249A>G	c.(1249-1251)AGC>GGC	p.S417G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.S417G|PCDHA2_uc011czy.1_Missense_Mutation_p.S417G	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	417	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCGCGAGAGCGTGTCAGC	0.627													G	140175798	A	G	140175798	3	3	96	1	0	0	0	0	1	0	0	0	11524	304	11	3	1251	3	PCDHA2	5	140175798	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2899829	140175798	40739462	422	63384											
PCDHA4	56144	broad.mit.edu	37	chr5	140188288	140188288	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taggggagcgcgcgctgtcgAgctacgtttcggtgcatgcg	17	10	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:140188288A>T	uc003lhi.2	+	1	1617	c.1516A>T	c.(1516-1518)AGC>TGC	p.S506C	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.S506C|PCDHA4_uc011daa.1_Missense_Mutation_p.S506C	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	506	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCTGTCGAGCTACGTTTC	0.657													T	140188288	A	T	140188288	3	4	96	1	0	0	0	0	1	0	0	0	11526	304	11	5	1518	5	PCDHA4	5	140188288	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	12490	140188288	40726972	423	63385											
PCDHA7	56141	broad.mit.edu	37	chr5	140214018	140214018	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccgacatctactgctgtTtattataattctagcagctt	8	9	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:140214018T>G	uc003lhq.2	+	1	50	c.50T>G	c.(49-51)TTT>TGT	p.F17C	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.F17C	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	17					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACTGCTGTTTATTATAATT	0.512													G	140214018	T	G	140214018	3	3	96	1	0	0	0	0	1	0	0	0	11529	1841	64	5	52	5	PCDHA7	5	140214018	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	25730	140214018	40701242	424	63386											
PCDHA12	56137	broad.mit.edu	37	chr5	140256514	140256514	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgggacgcggacgcgcagaAgaacgcgctggtgtcctact	15	11	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:140256514A>C	uc003lic.2	+	1	1584	c.1457A>C	c.(1456-1458)AAG>ACG	p.K486T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.K486T	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	486	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCGCAGAAGAACGCGCTG	0.667													C	140256514	A	C	140256514	3	2	96	1	0	0	0	0	1	0	0	0	11522	72	3	5	1459	5	PCDHA12	5	140256514	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	42496	140256514	40658746	425	63387											
PCDHB1	29930	broad.mit.edu	37	chr5	140431782	140431782	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acgaccacgtgccccagttcTcgcgactggtgtacagagcc	11	15	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:140431782T>A	uc003lik.1	+	1	804	c.727T>A	c.(727-729)TCG>ACG	p.S243T		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	243	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCCAGTTCTCGCGACTGGT	0.602													A	140431782	T	A	140431782	3	1	96	1	0	0	0	0	1	0	0	0	11534	1551	54	5	729	5	PCDHB1	5	140431782	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	175268	140431782	40483478	426	63388											
PCDHB1	29930	broad.mit.edu	37	chr5	140431955	140431955	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgaccctcaaaatggagaAgttcgactaagaggacccct	9	10	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:140431955A>C	uc003lik.1	+	1	977	c.900A>C	c.(898-900)GAA>GAC	p.E300D		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	300	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAATGGAGAAGTTCGACTAA	0.463													C	140431955	A	C	140431955	3	2	96	1	0	0	0	0	1	0	0	0	11534	69	3	5	902	5	PCDHB1	5	140431955	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	173	140431955	40483305	427	63389											
PCDHB9	56127	broad.mit.edu	37	chr5	140567302	140567302	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagtgtttcggcacaaagAgatggtcttaaaaatatcag	10	7	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:140567302A>C	uc003liw.1	+	1	410	c.410A>C	c.(409-411)GAG>GCG	p.E137A		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	137	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCACAAAGAGATGGTCTTA	0.403													C	140567302	A	C	140567302	3	2	96	1	0	0	0	0	1	0	0	0	11549	304	11	5	412	5	PCDHB9	5	140567302	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	135347	140567302	40347958	428	63390											
PCDHB12	56124	broad.mit.edu	37	chr5	140590099	140590099	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acagaccacggctccccggcTttgagcagcgaggcgctggt	14	14	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:140590099T>A	uc003liz.2	+	1	1809	c.1620T>A	c.(1618-1620)GCT>GCA	p.A540A	PCDHB12_uc011dak.1_Silent_p.A203A	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	540	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCCCGGCTTTGAGCAGCG	0.692													A	140590099	T	A	140590099	2	1	96	1	0	0	0	0	0	0	0	1	11537	1596	56	5		5	PCDHB12	5	140590099	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	22797	140590099	40325161	429	63391											
TAF7	6879	broad.mit.edu	37	chr5	140699524	140699524	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaccagactgtactgcccTtctcacagtagaggcatatt	8	11	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:140699524T>G	uc003ljg.2	-	1	828	c.88A>C	c.(88-90)AGG>CGG	p.R30R		NM_005642	NP_005633	Q15545	TAF7_HUMAN	TATA box-binding protein-associated factor 2F	30					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACTGCCCTTCTCACAGTA	0.463													G	140699524	T	G	140699524	2	3	96	1	0	0	0	0	0	0	0	1	15529	1608	56	5		5	TAF7	5	140699524	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	109425	140699524	40215736	430	63392											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725704	140725704	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggcggtggccgcggtctccTgcgtcttcctggccttcgtc	14	15	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:140725704T>A	uc003ljm.1	+	1	2104	c.2104T>A	c.(2104-2106)TGC>AGC	p.C702S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.C462S|PCDHGA3_uc011dap.1_Missense_Mutation_p.C702S	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	702	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGTCTCCTGCGTCTTCCT	0.682													A	140725704	T	A	140725704	3	1	96	1	0	0	0	0	1	0	0	0	11555	1580	55	5	2106	5	PCDHGA3	5	140725704	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	26180	140725704	40189556	431	63393											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768320	140768320	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctagccagatcacccaatTtgacctgaactctaacaccg	6	14	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:140768320T>G	uc003lkc.1	+	1	869	c.869T>G	c.(868-870)TTT>TGT	p.F290C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.F290C	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	290	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|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)			ATCACCCAATTTGACCTGAAC	0.458													G	140768320	T	G	140768320	3	3	96	1	0	0	0	0	1	0	0	0	11565	1841	64	5	871	5	PCDHGB4	5	140768320	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	42616	140768320	40146940	432	63394											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773688	140773688	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacctctgtccactgaaacTcaaatcgctctgcacgtggc	7	16	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:140773688T>C	uc003lkd.1	+	1	2206	c.1308T>C	c.(1306-1308)ACT>ACC	p.T436T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Silent_p.T436T	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	436	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)			CCACTGAAACTCAAATCGCTC	0.463													C	140773688	T	C	140773688	2	2	96	1	0	0	0	0	0	0	0	1	11560	1538	54	3		3	PCDHGA8	5	140773688	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5368	140773688	40141572	433	63395											
PCDHGB5	56101	broad.mit.edu	37	chr5	140778113	140778113	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgcaaaattcctttgagcTgcaaataagtgagtctgcac	8	10	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:140778113T>C	uc003lkf.1	+	1	419	c.419T>C	c.(418-420)CTG>CCG	p.L140P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.L140P	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	140	Extracellular (Potential).|Cadherin 2.				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)			TCCTTTGAGCTGCAAATAAGT	0.413													C	140778113	T	C	140778113	3	2	96	1	0	0	0	0	1	0	0	0	11566	1580	55	3	421	3	PCDHGB5	5	140778113	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4425	140778113	40137147	434	63396											
PCDHGB6	56100	broad.mit.edu	37	chr5	140788397	140788397	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaacagagatctcatagcTtgatattgactgccttggac	9	8	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:140788397T>G	uc003lkj.1	+	1	628	c.628T>G	c.(628-630)TTG>GTG	p.L210V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.L210V	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	210	Extracellular (Potential).|Cadherin 2.				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)			ATCTCATAGCTTGATATTGAC	0.448													G	140788397	T	G	140788397	3	3	96	1	0	0	0	0	1	0	0	0	11567	1606	56	5	630	5	PCDHGB6	5	140788397	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	10284	140788397	40126863	435	63397											
PCDHGB6	56100	broad.mit.edu	37	chr5	140789877	140789877	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggccttaatctcagtgctctTcctcctcgccgtgattctgg	9	14	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:140789877T>A	uc003lkj.1	+	1	2108	c.2108T>A	c.(2107-2109)TTC>TAC	p.F703Y	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.F703Y|PCDHGA10_uc011day.1_5'Flank|PCDHGA10_uc003lkl.1_5'Flank	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	703	Helical; (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)			TCAGTGCTCTTCCTCCTCGCC	0.582													A	140789877	T	A	140789877	3	1	96	1	0	0	0	0	1	0	0	0	11567	1783	62	5	2110	5	PCDHGB6	5	140789877	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1480	140789877	40125383	436	63398											
PCDHGA10	56106	broad.mit.edu	37	chr5	140794709	140794709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccaggaccacggccagcCccctctctccgccactgtca	8	21	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:140794709C>T	uc003lkl.1	+	1	1967	c.1967C>T	c.(1966-1968)CCC>CTC	p.P656L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.P656L|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	656	Cadherin 6.|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)			CACGGCCAGCCCCCTCTCTCC	0.682													T	140794709	C	T	140794709	3	4	96	1	0	0	0	0	1	0	0	0	11551	623	22	4	1969	4	PCDHGA10	5	140794709	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	4832	140794709	40120551	437	63399											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811196	140811196	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggacgacaaggcggcccaAgttttcaaactagattgtaa	11	8	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:140811196A>G	uc003lkt.1	+	1	1039	c.870A>G	c.(868-870)CAA>CAG	p.Q290Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.Q290Q	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	290	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCGGCCCAAGTTTTCAAAC	0.498													G	140811196	A	G	140811196	2	3	96	1	0	0	0	0	0	0	0	1	11553	69	3	3		3	PCDHGA12	5	140811196	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	16487	140811196	40104064	438	63400											
SPRY4	81848	broad.mit.edu	37	chr5	141694376	141694376	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtgctgctgctgctgcTcacagagctggggcgcccgc	16	13	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:141694376T>C	uc003lml.2	-	2	557	c.298A>G	c.(298-300)AGC>GGC	p.S100G	SPRY4_uc010jgi.1_Missense_Mutation_p.S123G	NM_001127496	NP_001120968	Q9C004	SPY4_HUMAN	sprouty homolog 4 isoform 2	100	Poly-Ser.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			ovary(1)|lung(1)	2		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTGCTGCTCACAGAGCTG	0.682									Testicular_Cancer_Familial_Clustering_of				C	141694376	T	C	141694376	3	2	96	1	0	0	0	0	1	0	0	0	15107	1551	54	3	605	3	SPRY4	5	141694376	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	883180	141694376	39220884	439	63401											
RBM27	54439	broad.mit.edu	37	chr5	145616914	145616914	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgaccagcctgggacaAgtgcagtgcccaatcttgca	12	13	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:145616914A>C	uc003lnz.3	+	8	1364	c.1198A>C	c.(1198-1200)AGT>CGT	p.S400R	RBM27_uc003lny.2_Missense_Mutation_p.S400R	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	400	Pro-rich.				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			central_nervous_system(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCTGGGACAAGTGCAGTGCC	0.428													C	145616914	A	C	145616914	3	2	96	1	0	0	0	0	1	0	0	0	13127	72	3	5	1228	5	RBM27	5	145616914	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3922538	145616914	35298346	440	63402											
RBM27	54439	broad.mit.edu	37	chr5	145648801	145648801	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttacaacaagatatgaggaAaaaaagacaggaagtgttag	11	3	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:145648801A>C	uc003lnz.3	+	16	2649	c.2483A>C	c.(2482-2484)AAA>ACA	p.K828T	RBM27_uc003lny.2_Missense_Mutation_p.K773T	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	828	Potential.				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			central_nervous_system(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATATGAGGAAAAAAAGACAG	0.299													C	145648801	A	C	145648801	3	2	96	1	0	0	0	0	1	0	0	0	13127	14	1	5	2545	5	RBM27	5	145648801	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	31887	145648801	35266459	441	63403											
DPYSL3	1809	broad.mit.edu	37	chr5	146798174	146798174	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcactcctccaggaacaAtcagattgtctccaatttgt	5	12	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:146798174A>C	uc003lon.1	-	3	259	c.149T>G	c.(148-150)ATT>AGT	p.I50S	DPYSL3_uc003loo.2_Missense_Mutation_p.I164S	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	50					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGGAACAATCAGATTGTC	0.398													C	146798174	A	C	146798174	3	2	96	1	0	0	0	0	1	0	0	0	4748	101	4	5	1611	5	DPYSL3	5	146798174	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1149373	146798174	34117086	442	63404											
ARHGEF37	389337	broad.mit.edu	37	chr5	149003664	149003664	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccagcttcgctcctttcaAgagacctttgagaaagtgca	8	11	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:149003664A>G	uc003lra.1	+	10	1489	c.1425A>G	c.(1423-1425)CAA>CAG	p.Q475Q		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	hypothetical protein LOC389337	475					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0						GCTCCTTTCAAGAGACCTTTG	0.587													G	149003664	A	G	149003664	2	3	96	1	0	0	0	0	0	0	0	1	906	69	3	3		3	ARHGEF37	5	149003664	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2205490	149003664	31911596	443	63405											
GRIA1	2890	broad.mit.edu	37	chr5	153149895	153149895	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtacattgagcagcggaaAccctgtgacaccatgaaggt	12	9	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:153149895A>G	uc003lva.3	+	13	2555	c.2190A>G	c.(2188-2190)AAA>AAG	p.K730K	GRIA1_uc003luy.3_Silent_p.K730K|GRIA1_uc003luz.3_Silent_p.K635K|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Silent_p.K650K|GRIA1_uc011dcx.1_Silent_p.K661K|GRIA1_uc011dcy.1_Silent_p.K740K|GRIA1_uc011dcz.1_Silent_p.K740K	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	730	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGCAGCGGAAACCCTGTGACA	0.512													G	153149895	A	G	153149895	2	3	96	1	0	0	0	0	0	0	0	1	6767	40	2	3		3	GRIA1	5	153149895	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4146231	153149895	27765365	444	63406											
RARS	5917	broad.mit.edu	37	chr5	167921609	167921609	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagaacaattgaccagtcTtctagtgaatggagttcaac	8	8	4	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:167921609T>G	uc003lzx.2	+	5	574	c.533T>G	c.(532-534)CTT>CGT	p.L178R	RARS_uc011deo.1_5'UTR	NM_002887	NP_002878	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	178					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|skin(1)	3	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TTGACCAGTCTTCTAGTGAAT	0.318													G	167921609	T	G	167921609	3	3	96	1	0	0	0	0	1	0	0	0	13058	1609	56	5	551	5	RARS	5	167921609	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	14771714	167921609	12993651	445	63407											
SLIT3	6586	broad.mit.edu	37	chr5	168180908	168180908	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccacggaacacgcgcccgTgcacggtctccagctggttc	13	16	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:168180908T>C	uc003mab.2	-	17	2210	c.1790A>G	c.(1789-1791)CAC>CGC	p.H597R	SLIT3_uc010jjg.2_Missense_Mutation_p.H597R	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	597	LRR 14.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACGCGCCCGTGCACGGTCTC	0.617													C	168180908	T	C	168180908	3	2	96	1	0	0	0	0	1	0	0	0	14741	1696	59	3	2861	3	SLIT3	5	168180908	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	259299	168180908	12734352	446	63408											
RANBP17	64901	broad.mit.edu	37	chr5	170669756	170669756	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaccatatgagcttcaTcatcaacttagagcctcctg	7	12	4	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:170669756T>G	uc003mba.2	+	24	2724	c.2708T>G	c.(2707-2709)ATC>AGC	p.I903S	RANBP17_uc003mbb.2_Missense_Mutation_p.I228S|RANBP17_uc003mbd.2_Missense_Mutation_p.I266S|RANBP17_uc010jjs.2_RNA	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	903					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATGAGCTTCATCATCAACTTA	0.423			T	TRD@	ALL								G	170669756	T	G	170669756	3	3	96	1	0	0	0	0	1	0	0	0	13027	1435	50	5	2802	5	RANBP17	5	170669756	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2488848	170669756	10245504	447	63409											
C5orf41	153222	broad.mit.edu	37	chr5	172517706	172517706	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accctcttcattccctggtaAaaagatcacaagcagagcag	7	12	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:172517706A>C	uc003mch.2	+	4	828	c.524A>C	c.(523-525)AAA>ACA	p.K175T	C5orf41_uc003mcg.2_Missense_Mutation_p.K175T|C5orf41_uc003mcf.2_Missense_Mutation_p.K175T|C5orf41_uc011dfd.1_Missense_Mutation_p.K175T	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	luman-recruiting factor	175							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCCCTGGTAAAAAGATCACA	0.443													C	172517706	A	C	172517706	3	2	96	1	0	0	0	0	1	0	0	0	2300	14	1	5	534	5	C5orf41	5	172517706	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1847950	172517706	8397554	448	63410											
C5orf25	375484	broad.mit.edu	37	chr5	175722138	175722138	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcagtttttgatggacTttgtgtcaccccagcattac	9	10	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:175722138T>G	uc003mds.3	+	5	1887	c.1480T>G	c.(1480-1482)TTT>GTT	p.F494V	C5orf25_uc003mdt.3_Missense_Mutation_p.F79V|C5orf25_uc003mdr.3_RNA|C5orf25_uc011dfk.1_Missense_Mutation_p.F513V			Q8NDZ2	CE025_HUMAN	RecName: Full=Uncharacterized protein C5orf25;	494											0	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		TTTGATGGACTTTGTGTCACC	0.453													G	175722138	T	G	175722138	3	3	96	1	0	0	0	0	1	0	0	0	2288	1609	56	5	241	5	C5orf25	5	175722138	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3204432	175722138	5193122	449	63411											
CDHR2	54825	broad.mit.edu	37	chr5	176011249	176011249	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacaactttacggtgaaggAggaggatccaggtatgtgct	13	7	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:176011249A>G	uc003mem.1	+	18	2183	c.2117A>G	c.(2116-2118)GAG>GGG	p.E706G	CDHR2_uc003men.1_Missense_Mutation_p.E706G	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	706	Cadherin 7.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						ACGGTGAAGGAGGAGGATCCA	0.557													G	176011249	A	G	176011249	3	3	96	1	0	0	0	0	1	0	0	0	3119	304	11	3	2183	3	CDHR2	5	176011249	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	289111	176011249	4904011	450	63412											
GPRIN1	114787	broad.mit.edu	37	chr5	176024901	176024901	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgctgcagcgccctcTtgcccagggagctttgtttc	12	14	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr5:176024901T>C	uc003meo.1	-	2	2110	c.1935A>G	c.(1933-1935)CAA>CAG	p.Q645Q		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	645						growth cone|plasma membrane				ovary(2)	2	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCGCCCTCTTGCCCAGGGA	0.587													C	176024901	T	C	176024901	2	2	96	1	0	0	0	0	0	0	0	1	6729	1606	56	3		3	GPRIN1	5	176024901	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	13652	176024901	4890359	451	63413											
HUS1B	135458	broad.mit.edu	37	chr6	656331	656331	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggagggtttccaagatttTtaaaataactttgaatggac	11	4	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:656331T>G	uc003mtg.2	-	1	634	c.614A>C	c.(613-615)AAA>ACA	p.K205T	EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint protein B	205											0	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		TCCAAGATTTTTAAAATAACT	0.532													G	656331	T	G	656331	3	3	96	1	0	0	0	0	1	0	0	0	7460	1841	64	5	226	5	HUS1B	6	656331	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08		656331	170458736	452	63414											
RIOK1	83732	broad.mit.edu	37	chr6	7414622	7414622	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaccctgacattgataaaaAagtaagcaatgaaatacctt	7	7	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:7414622A>C	uc003mxn.2	+	16	1769	c.1595A>C	c.(1594-1596)AAA>ACA	p.K532T	RIOK1_uc003mxo.2_Missense_Mutation_p.K291T	NM_031480	NP_113668	Q9BRS2	RIOK1_HUMAN	RIO kinase 1 isoform 1	532							ATP binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|skin(1)	4	Ovarian(93;0.0418)					ATTGATAAAAAAGTAAGCAAT	0.458													C	7414622	A	C	7414622	3	2	96	1	0	0	0	0	1	0	0	0	13377	28	1	5	1657	5	RIOK1	6	7414622	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	6758291	7414622	163700445	453	63415											
MAK	4117	broad.mit.edu	37	chr6	10803970	10803970	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacttttttgggagtccctaAaacttggcaaattttaaaga	7	6	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:10803970A>C	uc003mzl.2	-	6	875	c.646T>G	c.(646-648)TTA>GTA	p.L216V	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.L216V|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	216	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				GGAGTCCCTAAAACTTGGCAA	0.348													C	10803970	A	C	10803970	3	2	96	1	0	0	0	0	1	0	0	0	9197	11	1	5	1257	5	MAK	6	10803970	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3389348	10803970	160311097	454	63416											
ATXN1	6310	broad.mit.edu	37	chr6	16327457	16327457	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggggctcgggtggaccAccacgtgcctggactcgtac	15	13	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:16327457A>T	uc003nbt.2	-	8	2056	c.1085T>A	c.(1084-1086)GTG>GAG	p.V362E	ATXN1_uc010jpi.2_Missense_Mutation_p.V362E|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	362					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CGGGTGGACCACCACGTGCCT	0.682													T	16327457	A	T	16327457	3	4	96	1	0	0	0	0	1	0	0	0	1209	159	6	5	1370	5	ATXN1	6	16327457	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	5523487	16327457	154787610	455	63417											
KIF13A	63971	broad.mit.edu	37	chr6	17764753	17764753	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaaggcactgttttccttgAgtggcaccacaattatcttg	8	10	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:17764753A>G	uc003ncg.3	-	39	5111	c.5006T>C	c.(5005-5007)CTC>CCC	p.L1669P	KIF13A_uc003ncf.2_Missense_Mutation_p.L1621P|KIF13A_uc003nch.3_Missense_Mutation_p.L1634P|KIF13A_uc003nci.3_Missense_Mutation_p.L1621P|KIF13A_uc003nce.1_Missense_Mutation_p.L220P	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1669					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTTTTCCTTGAGTGGCACCAC	0.473													G	17764753	A	G	17764753	3	3	96	1	0	0	0	0	1	0	0	0	8274	304	11	3	440	3	KIF13A	6	17764753	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1437296	17764753	153350314	456	63418											
KDM1B	221656	broad.mit.edu	37	chr6	18213945	18213945	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtacaaggggctgacttttTtggtcacgttcctcccagtg	11	10	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:18213945T>C	uc003nco.1	+	12	1508	c.1433T>C	c.(1432-1434)TTT>TCT	p.F478S	KDM1B_uc003ncn.1_Missense_Mutation_p.F449S|KDM1B_uc003ncp.1_Missense_Mutation_p.F34S|KDM1B_uc003ncq.1_Missense_Mutation_p.F34S	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	amine oxidase (flavin containing) domain 1	681					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			skin(1)	1						GCTGACTTTTTTGGTCACGTT	0.463													C	18213945	T	C	18213945	3	2	96	1	0	0	0	0	1	0	0	0	8123	1841	64	3	1396	3	KDM1B	6	18213945	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	449192	18213945	152901122	457	63419											
KIAA0319	9856	broad.mit.edu	37	chr6	24576688	24576688	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgctctggtttccattcaAagtgatggagttttggggca	12	7	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:24576688A>C	uc011djo.1	-	10	1879	c.1642T>G	c.(1642-1644)TTG>GTG	p.L548V	KIAA0319_uc011djp.1_Missense_Mutation_p.L503V|KIAA0319_uc003neh.1_Missense_Mutation_p.L548V|KIAA0319_uc011djq.1_Missense_Mutation_p.L539V|KIAA0319_uc011djr.1_Missense_Mutation_p.L548V|KIAA0319_uc010jpt.1_5'UTR	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	548	PKD 3.|Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2						TTTCCATTCAAAGTGATGGAG	0.493													C	24576688	A	C	24576688	3	2	96	1	0	0	0	0	1	0	0	0	8168	11	1	5	1624	5	KIAA0319	6	24576688	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	6362743	24576688	146538379	458	63420											
KIAA0319	9856	broad.mit.edu	37	chr6	24581195	24581195	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaatccttctccaaaggcgTtttcactagaaacagtgact	6	11	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:24581195T>G	uc011djo.1	-	7	1475	c.1238A>C	c.(1237-1239)AAC>ACC	p.N413T	KIAA0319_uc011djp.1_Missense_Mutation_p.N368T|KIAA0319_uc003neh.1_Missense_Mutation_p.N413T|KIAA0319_uc011djq.1_Missense_Mutation_p.N404T|KIAA0319_uc011djr.1_Missense_Mutation_p.N413T|KIAA0319_uc010jpt.1_5'UTR	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	413	PKD 1.|Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2						TCCAAAGGCGTTTTCACTAGA	0.413											OREG0017229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	24581195	T	G	24581195	3	3	96	1	0	0	0	0	1	0	0	0	8168	1725	60	5	2040	5	KIAA0319	6	24581195	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4507	24581195	146533872	459	63421											
SLC17A4	10050	broad.mit.edu	37	chr6	25773785	25773785	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccattagggctatgatcaaAtccttaccactctgggccat	7	13	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:25773785A>C	uc003nfe.2	+	8	989	c.870A>C	c.(868-870)AAA>AAC	p.K290N	SLC17A4_uc011djx.1_Intron|SLC17A4_uc003nff.1_Missense_Mutation_p.K51N|SLC17A4_uc003nfg.2_Missense_Mutation_p.K227N|SLC17A4_uc010jqa.2_Missense_Mutation_p.K3N	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	solute carrier family 17 (sodium phosphate),	290					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			skin(1)	1						CTATGATCAAATCCTTACCAC	0.463													C	25773785	A	C	25773785	3	2	96	1	0	0	0	0	1	0	0	0	14419	98	4	5	896	5	SLC17A4	6	25773785	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1192590	25773785	145341282	460	63422											
HIST1H1A	3024	broad.mit.edu	37	chr6	26017925	26017925	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtttctcaggagcagcAgaagcggcgggggcgggagg	20	7	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:26017925A>G	uc003nfo.2	-	1	116	c.36T>C	c.(34-36)TCT>TCC	p.S12S	HIST1H3A_uc003nfp.1_5'Flank	NM_005325	NP_005316	Q02539	H11_HUMAN	histone cluster 1, H1a	12					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			ovary(2)	2						CAGGAGCAGCAGAAGCGGCGG	0.527											OREG0017237	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	26017925	A	G	26017925	2	3	96	1	0	0	0	0	0	0	0	1	7122	175	7	3		3	HIST1H1A	6	26017925	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	244140	26017925	145097142	461	63423											
HIST1H4B	8366	broad.mit.edu	37	chr6	26027235	26027235	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taaaccacatccatggcagtGacagtcttgcgcttggcgtg	11	11	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:26027235G>A	uc003nfr.2	-	1	246	c.246C>T	c.(244-246)GTC>GTT	p.V82V		NM_003544	NP_003535	P62805	H4_HUMAN	histone cluster 1, H4b	82					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2						CCATGGCAGTGACAGTCTTGC	0.532											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	26027235	G	A	26027235	2	1	96	1	0	0	0	0	0	0	0	1	7166	1277	45	4		4	HIST1H4B	6	26027235	Silent	SNP	G	TCGA-BR-8589-01A-11D-2394-08	9310	26027235	145087832	462	63424											
BTN3A1	11119	broad.mit.edu	37	chr6	26405873	26405873	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagctgctcatgcctcacTcaggtagggaacaattccac	8	13	4	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:26405873T>C	uc003nhv.2	+	2	450	c.82T>C	c.(82-84)TCA>CCA	p.S28P	BTN3A1_uc011dkj.1_Missense_Mutation_p.S28P|BTN3A1_uc011dkk.1_Missense_Mutation_p.S28P|BTN3A1_uc010jqj.2_Missense_Mutation_p.S28P	NM_007048	NP_008979	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1 isoform a	28					lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						CATGCCTCACTCAGGTAGGGA	0.468													C	26405873	T	C	26405873	3	2	96	1	0	0	0	0	1	0	0	0	1562	1551	54	3	84	3	BTN3A1	6	26405873	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	378638	26405873	144709194	463	63425											
OR14J1	442191	broad.mit.edu	37	chr6	29275414	29275414	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagaaaaatgtgcttaaaAgccatgtttaaactctgaag	8	6	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:29275414A>G	uc011dln.1	+	1	948	c.948A>G	c.(946-948)AAA>AAG	p.K316K		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	316	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						tgtgcttaaaagccatgttta	0.289													G	29275414	A	G	29275414	2	3	96	1	0	0	0	0	0	0	0	1	10948	69	3	3		3	OR14J1	6	29275414	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2869541	29275414	141839653	464	63426											
MOG	4340	broad.mit.edu	37	chr6	29627367	29627367	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atccggaatgtaaggttctcAgatgaaggaggtttcacctg	12	7	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:29627367A>C	uc003nnf.2	+	2	538	c.360A>C	c.(358-360)TCA>TCC	p.S120S	MOG_uc003qzk.1_Silent_p.S120S|MOG_uc010kle.1_Intron|MOG_uc010klf.1_Intron|MOG_uc003nmy.1_Silent_p.S120S|MOG_uc003nmz.2_Silent_p.S120S|MOG_uc011dlt.1_Silent_p.S50S|MOG_uc003nna.2_Intron|MOG_uc011dlu.1_Intron|MOG_uc011dlv.1_Intron|MOG_uc003nnd.2_Silent_p.S120S|MOG_uc003nne.2_Silent_p.S120S|MOG_uc003nng.2_Silent_p.S120S|MOG_uc003nnh.2_Silent_p.S120S|MOG_uc003nni.2_Silent_p.S120S|MOG_uc003nnj.2_Silent_p.S120S|MOG_uc003nnk.2_Silent_p.S120S	NM_206809	NP_996532	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein isoform	120	Ig-like V-type.|Extracellular (Potential).				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)	1						TAAGGTTCTCAGATGAAGGAG	0.473													C	29627367	A	C	29627367	2	2	96	1	0	0	0	0	0	0	0	1	9693	175	7	5		5	MOG	6	29627367	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	351953	29627367	141487700	465	63427											
TRIM39	56658	broad.mit.edu	37	chr6	30297161	30297161	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcggctttggagaacTtacaggtggaggcgagctgc	16	9	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:30297161T>G	uc010jrz.2	+	3	379	c.67T>G	c.(67-69)TTA>GTA	p.L23V	HCG18_uc003npx.2_5'Flank|HCG18_uc003npy.2_5'Flank|TRIM39_uc003npz.2_Missense_Mutation_p.L23V|TRIM39_uc003nqb.2_Missense_Mutation_p.L23V|TRIM39_uc003nqc.2_Missense_Mutation_p.L23V|TRIM39_uc010jsa.1_Missense_Mutation_p.L23V	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN	tripartite motif-containing 39 isoform 1	23					apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding			ovary(3)	3						TTTGGAGAACTTACAGGTGGA	0.532													G	30297161	T	G	30297161	3	3	96	1	0	0	0	0	1	0	0	0	16510	1606	56	5	69	5	TRIM39	6	30297161	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	669794	30297161	140817906	466	63428											
TRIM39	56658	broad.mit.edu	37	chr6	30297387	30297387	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagcagctccaggccgtcaAgcggaagatccgggatgaga	14	11	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:30297387A>G	uc010jrz.2	+	3	605	c.293A>G	c.(292-294)AAG>AGG	p.K98R	HCG18_uc003npx.2_5'Flank|HCG18_uc003npy.2_5'Flank|TRIM39_uc003npz.2_Missense_Mutation_p.K98R|TRIM39_uc003nqb.2_Missense_Mutation_p.K98R|TRIM39_uc003nqc.2_Missense_Mutation_p.K98R|TRIM39_uc010jsa.1_Missense_Mutation_p.K98R	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN	tripartite motif-containing 39 isoform 1	98					apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding			ovary(3)	3						CAGGCCGTCAAGCGGAAGATC	0.547													G	30297387	A	G	30297387	3	3	96	1	0	0	0	0	1	0	0	0	16510	72	3	3	295	3	TRIM39	6	30297387	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	226	30297387	140817680	467	63429											
GTF2H4	2968	broad.mit.edu	37	chr6	30879519	30879519	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgcaacatctgcgtgAgtttgggcttgttttccaga	10	10	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:30879519A>C	uc003nsa.1	+	9	1007	c.800A>C	c.(799-801)GAG>GCG	p.E267A	GTF2H4_uc010jsf.2_Missense_Mutation_p.E267A|GTF2H4_uc011dmv.1_Missense_Mutation_p.E211A|GTF2H4_uc003nsb.1_Missense_Mutation_p.E105A|GTF2H4_uc011dmw.1_Missense_Mutation_p.E273A|VARS2_uc003nsc.1_5'Flank|VARS2_uc003nsd.2_5'Flank|VARS2_uc011dmx.1_5'Flank|VARS2_uc011dmy.1_5'Flank|VARS2_uc011dmz.1_5'Flank	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4,	267					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3						CATCTGCGTGAGTTTGGGCTT	0.488								NER					C	30879519	A	C	30879519	3	2	96	1	0	0	0	0	1	0	0	0	6865	304	11	5	830	5	GTF2H4	6	30879519	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	582132	30879519	140235548	468	63430											
HLA-B	3106	broad.mit.edu	37	chr6	31323279	31323279	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgctgccaggtcagtgtgAtctccgcagggtagaaaccc	12	14	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:31323279A>C	uc003nth.2	-	4	764	c.710T>G	c.(709-711)ATC>AGC	p.I237S	HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_RNA|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Missense_Mutation_p.I116S|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	237	Alpha-3.|Ig-like C1-type.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0						GGTCAGTGTGATCTCCGCAGG	0.597									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				C	31323279	A	C	31323279	3	2	96	1	0	0	0	0	1	0	0	0	7196	333	12	5	394	5	HLA-B	6	31323279	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	443760	31323279	139791788	469	63431											
LTA	4049	broad.mit.edu	37	chr6	31541078	31541078	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaccccagcaagcagaacTcactgctctggagagcaaac	10	13	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:31541078T>C	uc011dnu.1	+	4	439	c.226T>C	c.(226-228)TCA>CCA	p.S76P	LTA_uc003nue.1_Missense_Mutation_p.S76P|LTA_uc003nuf.2_Intron|LTA_uc003nuh.2_Missense_Mutation_p.S23P|LTA_uc003nug.2_Missense_Mutation_p.S23P|LTA_uc010jsr.2_Intron|TNF_uc003nui.2_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	lymphotoxin alpha precursor	76					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding				0					Etanercept(DB00005)	CAAGCAGAACTCACTGCTCTG	0.567													C	31541078	T	C	31541078	3	2	96	1	0	0	0	0	1	0	0	0	9068	1551	54	3	236	3	LTA	6	31541078	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	217799	31541078	139573989	470	63432											
MDGA1	266727	broad.mit.edu	37	chr6	37606368	37606368	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgccacacattgcccTtattgccactgagagaccag	8	15	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:37606368T>A	uc003onu.1	-	15	3791	c.2612A>T	c.(2611-2613)AAG>ATG	p.K871M	MDGA1_uc003onv.1_Missense_Mutation_p.K140M	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	871	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						CACATTGCCCTTATTGCCACT	0.652													A	37606368	T	A	37606368	3	1	96	1	0	0	0	0	1	0	0	0	9406	1609	56	5	267	5	MDGA1	6	37606368	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	6065290	37606368	133508699	471	63433											
DNAH8	1769	broad.mit.edu	37	chr6	38825338	38825338	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggacacacgattcagaAgaggctttacgtaatgcaaa	10	7	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:38825338A>C	uc003ooe.1	+	40	5727	c.5127A>C	c.(5125-5127)GAA>GAC	p.E1709D		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						ACGATTCAGAAGAGGCTTTAC	0.358													C	38825338	A	C	38825338	3	2	96	1	0	0	0	0	1	0	0	0	4607	69	3	5	5277	5	DNAH8	6	38825338	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1218970	38825338	132289729	472	63434											
MOCS1	4337	broad.mit.edu	37	chr6	39874134	39874134	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgagaagggcaggtgcTaagcccgatggaagtccccc	16	10	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:39874134T>G	uc003opb.2	-	10	2048	c.1910A>C	c.(1909-1911)TAG>TCG	p.*637S	MOCS1_uc003opa.2_3'UTR|MOCS1_uc003opc.2_Nonstop_Mutation_p.*621S|MOCS1_uc003opd.2_3'UTR|MOCS1_uc003ope.2_Nonstop_Mutation_p.*534S	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	637					Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGGCAGGTGCTAAGCCCGATG	0.552													G	39874134	T	G	39874134	4	3	96	1	0	0	0	0	0	0	0	0	9690	1537	53	5		5	MOCS1	6	39874134	Nonstop_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1048796	39874134	131240933	473	63435											
APOBEC2	10930	broad.mit.edu	37	chr6	41029181	41029181	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcacagggcaaggggggccaAgtgcaggcatctcggggata	18	9	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:41029181A>T	uc003opl.2	+	2	393	c.246A>T	c.(244-246)CAA>CAT	p.Q82H	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.2_Intron	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	82					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding				0	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGGGGGGCCAAGTGCAGGCAT	0.557													T	41029181	A	T	41029181	3	4	96	1	0	0	0	0	1	0	0	0	788	69	3	5	252	5	APOBEC2	6	41029181	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1155047	41029181	130085886	474	63436											
C6orf130	221443	broad.mit.edu	37	chr6	41037846	41037846	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatatcgcccatctctcttcAgaacagccacttctccagat	4	15	4	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:41037846A>G	uc003opm.2	-	4	384	c.212T>C	c.(211-213)CTG>CCG	p.L71P	UNC5CL_uc010jxe.1_5'UTR|C6orf130_uc010jxg.2_Missense_Mutation_p.L71P|C6orf130_uc003opn.2_Missense_Mutation_p.L71P|C6orf130_uc010jxh.1_Missense_Mutation_p.L71P|NFYA_uc003opo.2_5'Flank|NFYA_uc003opp.2_5'Flank	NM_145063	NP_659500	Q9Y530	CF130_HUMAN	hypothetical protein LOC221443	71	Macro.										0	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATCTCTCTTCAGAACAGCCAC	0.313													G	41037846	A	G	41037846	3	3	96	1	0	0	0	0	1	0	0	0	2329	188	7	3	258	3	C6orf130	6	41037846	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	8665	41037846	130077221	475	63437											
PEX6	5190	broad.mit.edu	37	chr6	42934394	42934394	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtcaagccacctgccaAactgcaaagaggaacacagg	9	13	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:42934394A>C	uc003otf.2	-	10	2056	c.1963T>G	c.(1963-1965)TTG>GTG	p.L655V	PEX6_uc010jya.2_RNA	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	655					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CCACCTGCCAAACTGCAAAGA	0.582													C	42934394	A	C	42934394	3	2	96	1	0	0	0	0	1	0	0	0	11750	28	1	5	1011	5	PEX6	6	42934394	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1896548	42934394	128180673	476	63438											
SLC22A7	10864	broad.mit.edu	37	chr6	43267175	43267175	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacagagctgcgtccacTttcttcttcgccggtgtgct	10	13	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:43267175T>G	uc003out.2	+	3	546	c.447T>G	c.(445-447)ACT>ACG	p.T149T	SLC22A7_uc010jyl.1_Silent_p.T147T|SLC22A7_uc003ous.2_Silent_p.T147T	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	solute carrier family 22 member 7 isoform b	149	Helical; (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity				0			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CTGCGTCCACTTTCTTCTTCG	0.572													G	43267175	T	G	43267175	2	3	96	1	0	0	0	0	0	0	0	1	14459	1596	56	5		5	SLC22A7	6	43267175	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	332781	43267175	127847892	477	63439											
AARS2	57505	broad.mit.edu	37	chr6	44269806	44269806	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctctcacctgtcccatTtgcagcttacggatggcagt	8	15	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:44269806T>G	uc010jza.1	-	19	2592	c.2589A>C	c.(2587-2589)CAA>CAC	p.Q863H	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	863					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CCTGTCCCATTTGCAGCTTAC	0.602													G	44269806	T	G	44269806	3	3	96	1	0	0	0	0	1	0	0	0	20	1838	64	5	384	5	AARS2	6	44269806	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1002631	44269806	126845261	478	63440											
CYP39A1	51302	broad.mit.edu	37	chr6	46620249	46620249	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgggggtctacgcaaattcTtccgctgaaggagtaagaac	12	9	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:46620249T>C	uc003oyf.1	-	1	275	c.71A>G	c.(70-72)AAG>AGG	p.K24R	CYP39A1_uc011dwa.1_Missense_Mutation_p.K24R|CYP39A1_uc010jzd.1_5'UTR|SLC25A27_uc011dwb.1_5'Flank|SLC25A27_uc003oyg.2_5'Flank|SLC25A27_uc003oyh.2_5'Flank|SLC25A27_uc011dwc.1_5'Flank	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A,	24					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(1)	1						ACGCAAATTCTTCCGCTGAAG	0.453													C	46620249	T	C	46620249	3	2	96	1	0	0	0	0	1	0	0	0	4177	1609	56	3	1386	3	CYP39A1	6	46620249	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2350443	46620249	124494818	479	63441											
TDRD6	221400	broad.mit.edu	37	chr6	46657408	46657408	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacacaatgtcaccttcagtAagctgatgaggagaatgtgt	10	7	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:46657408A>G	uc003oyj.2	+	1	1543	c.1543A>G	c.(1543-1545)AAG>GAG	p.K515E	TDRD6_uc010jze.2_Missense_Mutation_p.K509E	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	515					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			CACCTTCAGTAAGCTGATGAG	0.423													G	46657408	A	G	46657408	3	3	96	1	0	0	0	0	1	0	0	0	15731	363	13	3	1545	3	TDRD6	6	46657408	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	37159	46657408	124457659	480	63442											
GPR111	222611	broad.mit.edu	37	chr6	47649717	47649717	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcctagtctggagccaAgtgacaaagacagagatcac	12	9	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:47649717A>G	uc010jzj.1	+	6	1423	c.1422A>G	c.(1420-1422)CAA>CAG	p.Q474Q	GPR111_uc010jzk.1_Silent_p.Q406Q|GPR111_uc003oyy.2_RNA	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	G-protein coupled receptor 111	474	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						TCTGGAGCCAAGTGACAAAGA	0.453													G	47649717	A	G	47649717	2	3	96	1	0	0	0	0	0	0	0	1	6628	69	3	3		3	GPR111	6	47649717	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	992309	47649717	123465350	481	63443											
OPN5	221391	broad.mit.edu	37	chr6	47763080	47763080	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactacgtacctgagcccttCggaacctcgtgcaccctgga	10	15	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:47763080C>T	uc003ozc.2	+	4	542	c.537C>T	c.(535-537)TTC>TTT	p.F179F	OPN5_uc003ozd.2_Silent_p.F14F	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	opsin 5 isoform 1	179	Extracellular (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			ovary(1)	1						CTGAGCCCTTCGGAACCTCGT	0.607													T	47763080	C	T	47763080	2	4	96	1	0	0	0	0	0	0	0	1	10883	883	31	1		1	OPN5	6	47763080	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	113363	47763080	123351987	482	63444											
PKHD1	5314	broad.mit.edu	37	chr6	51524683	51524683	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcatcagcgctatcaagaAttaggaccacttggtcagtc	10	10	3	1	rs145268428		TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:51524683A>C	uc003pah.1	-	61	10517	c.10241T>G	c.(10240-10242)ATT>AGT	p.I3414S		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3414	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					GCTATCAAGAATTAGGACCAC	0.368													C	51524683	A	C	51524683	3	2	96	1	0	0	0	0	1	0	0	0	11971	101	4	5	2011	5	PKHD1	6	51524683	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3761603	51524683	119590384	483	63445											
DST	667	broad.mit.edu	37	chr6	56328444	56328444	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggatctgttgggtgaAgcgcctcgtgatgatggccg	17	7	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:56328444A>G	uc003pdf.2	-	94	16477	c.16449T>C	c.(16447-16449)GCT>GCC	p.A5483A	DST_uc003pcz.3_Silent_p.A5305A|DST_uc011dxj.1_Silent_p.A5334A|DST_uc011dxk.1_Silent_p.A5345A|DST_uc003pcy.3_Silent_p.A4979A|DST_uc003pcv.3_Silent_p.A101A|DST_uc003pcw.3_Silent_p.A62A|DST_uc003pcx.3_Silent_p.A62A	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	7415					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)			TGTTGGGTGAAGCGCCTCGTG	0.592													G	56328444	A	G	56328444	2	3	96	1	0	0	0	0	0	0	0	1	4783	59	3	3		3	DST	6	56328444	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4803761	56328444	114786623	484	63446											
PHF3	23469	broad.mit.edu	37	chr6	64422746	64422746	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attgaaactgtgcacccattTcgaagaggatcagcagtagc	10	9	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:64422746T>A	uc003pep.1	+	15	5288	c.5262T>A	c.(5260-5262)TTT>TTA	p.F1754L	PHF3_uc003pen.2_Missense_Mutation_p.F1666L|PHF3_uc011dxs.1_Missense_Mutation_p.F1023L	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1754					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGCACCCATTTCGAAGAGGAT	0.393													A	64422746	T	A	64422746	3	1	96	1	0	0	0	0	1	0	0	0	11836	1780	62	5	5320	5	PHF3	6	64422746	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	8094302	64422746	106692321	485	63447											
RIMS1	22999	broad.mit.edu	37	chr6	73108029	73108029	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacgaagcctcacacaaaAgcctggttccaaatctacac	6	14	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:73108029A>C	uc003pga.2	+	32	4774	c.4697A>C	c.(4696-4698)AAG>ACG	p.K1566T	RIMS1_uc011dyb.1_Missense_Mutation_p.K963T|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Missense_Mutation_p.K886T|RIMS1_uc011dyc.1_Missense_Mutation_p.K691T|RIMS1_uc010kar.2_Missense_Mutation_p.K634T|RIMS1_uc011dyd.1_Missense_Mutation_p.K700T|RIMS1_uc003pgf.2_Missense_Mutation_p.K566T|RIMS1_uc003pgg.2_Missense_Mutation_p.K462T|RIMS1_uc003pgi.2_Missense_Mutation_p.K382T|RIMS1_uc003pgh.2_Missense_Mutation_p.K433T|RIMS1_uc003pgd.2_Missense_Mutation_p.K632T|RIMS1_uc003pge.2_Missense_Mutation_p.K606T|RIMS1_uc011dye.1_Missense_Mutation_p.K372T|RIMS1_uc011dyf.1_Missense_Mutation_p.K190T|RIMS1_uc011dyg.1_Missense_Mutation_p.K93T	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1566	C2 2.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTCACACAAAAGCCTGGTTCC	0.393													C	73108029	A	C	73108029	3	2	96	1	0	0	0	0	1	0	0	0	13367	72	3	5	4986	5	RIMS1	6	73108029	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	8685283	73108029	98007038	486	63448											
KCNQ5	56479	broad.mit.edu	37	chr6	73904333	73904333	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agccctgtggatagcaaagaTctttcgggttccgcacaaaa	10	10	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:73904333T>G	uc003pgk.2	+	14	2342	c.1995T>G	c.(1993-1995)GAT>GAG	p.D665E	KCNQ5_uc011dyh.1_Missense_Mutation_p.D684E|KCNQ5_uc011dyi.1_Missense_Mutation_p.D675E|KCNQ5_uc010kat.2_Missense_Mutation_p.D656E|KCNQ5_uc011dyj.1_Missense_Mutation_p.D555E|KCNQ5_uc011dyk.1_Missense_Mutation_p.D415E	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	665					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		ATAGCAAAGATCTTTCGGGTT	0.493													G	73904333	T	G	73904333	3	3	96	1	0	0	0	0	1	0	0	0	8086	1432	50	5	2110	5	KCNQ5	6	73904333	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	796304	73904333	97210734	487	63449											
KCNQ5	56479	broad.mit.edu	37	chr6	73904995	73904995	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagacagagacagacacttTtgatgccgcaccgcagcctg	11	12	0	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:73904995T>C	uc003pgk.2	+	14	3004	c.2657T>C	c.(2656-2658)TTT>TCT	p.F886S	KCNQ5_uc011dyh.1_Missense_Mutation_p.F905S|KCNQ5_uc011dyi.1_Missense_Mutation_p.F896S|KCNQ5_uc010kat.2_Missense_Mutation_p.F877S|KCNQ5_uc011dyj.1_Missense_Mutation_p.F776S|KCNQ5_uc011dyk.1_Missense_Mutation_p.F636S	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	886					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		ACAGACACTTTTGATGCCGCA	0.502													C	73904995	T	C	73904995	3	2	96	1	0	0	0	0	1	0	0	0	8086	1841	64	3	2772	3	KCNQ5	6	73904995	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	662	73904995	97210072	488	63450											
TPBG	7162	broad.mit.edu	37	chr6	83075691	83075691	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgggtcctcttggaactcaAcagtgctgacctggactgtg	12	11	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:83075691A>C	uc003pjn.3	+	3	1949	c.1013A>C	c.(1012-1014)AAC>ACC	p.N338T	TPBG_uc010kbj.2_Missense_Mutation_p.N338T|TPBG_uc003pjo.2_Missense_Mutation_p.N338T	NM_006670	NP_006661	Q13641	TPBG_HUMAN	trophoblast glycoprotein precursor	338	Extracellular (Potential).|LRRCT.				cell adhesion	integral to plasma membrane				central_nervous_system(1)	1		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		TTGGAACTCAACAGTGCTGAC	0.512													C	83075691	A	C	83075691	3	2	96	1	0	0	0	0	1	0	0	0	16391	43	2	5	1015	5	TPBG	6	83075691	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	9170696	83075691	88039376	489	63451											
RARS2	57038	broad.mit.edu	37	chr6	88231202	88231202	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatatatcattgtatcaaAattatacttgtccattcgat	3	8	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:88231202A>C	uc003pme.2	-	12	1075	c.1015T>G	c.(1015-1017)TTT>GTT	p.F339V	RARS2_uc003pmb.2_Missense_Mutation_p.F164V|RARS2_uc003pmc.2_Missense_Mutation_p.F164V|RARS2_uc003pmd.2_Translation_Start_Site|RARS2_uc003pmf.2_RNA	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	339					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|central_nervous_system(1)	3		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ATTGTATCAAAATTATACTTG	0.343													C	88231202	A	C	88231202	3	2	96	1	0	0	0	0	1	0	0	0	13059	14	1	5	757	5	RARS2	6	88231202	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	5155511	88231202	82883865	490	63452											
MDN1	23195	broad.mit.edu	37	chr6	90368543	90368543	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggctcctgtggactcTgactttcgttctggtcggtc	11	13	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:90368543T>A	uc003pnn.1	-	89	14923	c.14807A>T	c.(14806-14808)CAG>CTG	p.Q4936L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4936					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTGTGGACTCTGACTTTCGTT	0.493													A	90368543	T	A	90368543	3	1	96	1	0	0	0	0	1	0	0	0	9415	1580	55	5	2039	5	MDN1	6	90368543	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2137341	90368543	80746524	491	63453											
PRDM13	59336	broad.mit.edu	37	chr6	100062409	100062409	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatacgccctaccgctgcgAgttctgcggcaaggtacttg	11	13	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:100062409A>C	uc003pqg.1	+	4	2159	c.1898A>C	c.(1897-1899)GAG>GCG	p.E633A		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	633	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		TACCGCTGCGAGTTCTGCGGC	0.657													C	100062409	A	C	100062409	3	2	96	1	0	0	0	0	1	0	0	0	12454	304	11	5	1912	5	PRDM13	6	100062409	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	9693866	100062409	71052658	492	63454											
MICAL1	64780	broad.mit.edu	37	chr6	109770629	109770629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcatccctgtatctgtcTtgtcgttgttcctctgcaca	8	13	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:109770629T>C	uc003ptj.2	-	10	1744	c.1490A>G	c.(1489-1491)AAG>AGG	p.K497R	MICAL1_uc003ptk.2_Missense_Mutation_p.K497R|MICAL1_uc010kdr.2_Missense_Mutation_p.K411R|MICAL1_uc011eaq.1_Missense_Mutation_p.K516R	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	497					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TGTATCTGTCTTGTCGTTGTT	0.592													C	109770629	T	C	109770629	3	2	96	1	0	0	0	0	1	0	0	0	9569	1609	56	3	1773	3	MICAL1	6	109770629	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	9708220	109770629	61344438	493	63455											
CDK19	23097	broad.mit.edu	37	chr6	110988698	110988698	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taccatcaagaatctggtaaAgtaaggatttaaccatagat	7	6	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:110988698A>C	uc003puh.1	-	4	468	c.395T>G	c.(394-396)CTT>CGT	p.L132R	CDK19_uc003pui.1_Missense_Mutation_p.L72R	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	cell division cycle 2-like 6 (CDK8-like)	132	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						AATCTGGTAAAGTAAGGATTT	0.313													C	110988698	A	C	110988698	3	2	96	1	0	0	0	0	1	0	0	0	3135	72	3	5	1153	5	CDK19	6	110988698	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1218069	110988698	60126369	494	63456											
KIAA1919	91749	broad.mit.edu	37	chr6	111588294	111588294	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtgaagcacttgccagAaaccaggacaaaagggacta	10	10	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:111588294A>G	uc003puv.3	+	4	1951	c.1529A>G	c.(1528-1530)GAA>GGA	p.E510G		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	sodium-dependent glucose transporter 1	510	Cytoplasmic (Potential).				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(3)	3		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		CACTTGCCAGAAACCAGGACA	0.438													G	111588294	A	G	111588294	3	3	96	1	0	0	0	0	1	0	0	0	8262	246	9	3	1543	3	KIAA1919	6	111588294	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	599596	111588294	59526773	495	63457											
RFPL4B	442247	broad.mit.edu	37	chr6	112671189	112671189	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggaggagctccggcatttTcgggaggatgtgaccctgga	17	8	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:112671189T>C	uc003pvx.1	+	3	591	c.279T>C	c.(277-279)TTT>TTC	p.F93F		NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	93	B30.2/SPRY.						zinc ion binding				0		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		TCCGGCATTTTCGGGAGGATG	0.522													C	112671189	T	C	112671189	2	2	96	1	0	0	0	0	0	0	0	1	13256	1780	62	3		3	RFPL4B	6	112671189	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1082895	112671189	58443878	496	63458											
HS3ST5	222537	broad.mit.edu	37	chr6	114379073	114379073	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgcccttaccataattcTcatcattatcaaaaaagtgg	4	10	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:114379073T>G	uc003pwg.3	-	2	421	c.389A>C	c.(388-390)GAG>GCG	p.E130A	uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.E130A	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine)	130	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			ovary(1)|pancreas(1)	2		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		ACCATAATTCTCATCATTATC	0.433													G	114379073	T	G	114379073	3	3	96	1	0	0	0	0	1	0	0	0	7368	1551	54	5	655	5	HS3ST5	6	114379073	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1707884	114379073	56735994	497	63459											
GPRC6A	222545	broad.mit.edu	37	chr6	117113360	117113360	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagatacacttgtggcatttTccctgcatatgtgtgcaaat	8	8	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:117113360T>A	uc003pxj.1	-	6	2748	c.2726A>T	c.(2725-2727)GAA>GTA	p.E909V	GPRC6A_uc003pxk.1_Missense_Mutation_p.E734V|GPRC6A_uc003pxl.1_Missense_Mutation_p.E838V	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	909	Cytoplasmic (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGTGGCATTTTCCCTGCATAT	0.423													A	117113360	T	A	117113360	3	1	96	1	0	0	0	0	1	0	0	0	6728	1783	62	5	58	5	GPRC6A	6	117113360	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2734287	117113360	54001707	498	63460											
GPRC6A	222545	broad.mit.edu	37	chr6	117128056	117128056	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaataccacaatgacattaAcctgggcttctaaaatgatt	6	8	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:117128056A>C	uc003pxj.1	-	3	834	c.812T>G	c.(811-813)GTT>GGT	p.V271G	GPRC6A_uc003pxk.1_Splice_Site_p.Q270_splice|GPRC6A_uc003pxl.1_Missense_Mutation_p.V271G	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	271	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AATGACATTAACCTGGGCTTC	0.348													C	117128056	A	C	117128056	3	2	96	1	0	0	0	0	1	0	0	0	6728	43	2	5	1984	5	GPRC6A	6	117128056	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	14696	117128056	53987011	499	63461											
TRMT11	60487	broad.mit.edu	37	chr6	126333946	126333946	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatcagagaatctacaagaAgaacaggttcacagaaggag	11	6	3	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:126333946A>C	uc003qam.2	+	10	1076	c.955A>C	c.(955-957)AGA>CGA	p.R319R	TRMT11_uc003qan.2_RNA|TRMT11_uc010kev.2_Silent_p.R319R	NM_001031712	NP_001026882	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11	319					tRNA processing		methyltransferase activity|nucleic acid binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0356)		ATCTACAAGAAGAACAGGTTC	0.383													C	126333946	A	C	126333946	2	2	96	1	0	0	0	0	0	0	0	1	16559	64	3	5		5	TRMT11	6	126333946	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	9205890	126333946	44781121	500	63462											
ENPP3	5169	broad.mit.edu	37	chr6	132014759	132014759	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggatcaacagtggctggcTgttaggttcgtgtatctgtt	14	6	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:132014759T>C	uc003qcu.3	+	16	1754	c.1407T>C	c.(1405-1407)GCT>GCC	p.A469A	ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Silent_p.A469A	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	469	Extracellular (Potential).|Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AGTGGCTGGCTGTTAGGTTCG	0.398													C	132014759	T	C	132014759	2	2	96	1	0	0	0	0	0	0	0	1	5131	1567	55	3		3	ENPP3	6	132014759	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5680813	132014759	39100308	501	63463											
ALDH8A1	64577	broad.mit.edu	37	chr6	135239997	135239997	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaagagctctcttgacgtaActtctgacctgcgtgggtaa	11	10	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:135239997A>C	uc003qew.2	-	7	1073	c.1020T>G	c.(1018-1020)AGT>AGG	p.S340R	ALDH8A1_uc003qex.2_Missense_Mutation_p.S286R|ALDH8A1_uc010kgh.2_Missense_Mutation_p.S118R|ALDH8A1_uc011ecx.1_Missense_Mutation_p.S290R	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8A1 isoform 1	340					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		TCTTGACGTAACTTCTGACCT	0.458													C	135239997	A	C	135239997	3	2	96	1	0	0	0	0	1	0	0	0	505	40	2	5	447	5	ALDH8A1	6	135239997	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3225238	135239997	35875070	502	63464											
GRM1	2911	broad.mit.edu	37	chr6	146351241	146351241	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcgacctgagtgacaaaacTttgtacaaatacttcctgag	7	9	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:146351241T>G	uc010khw.1	+	2	1058	c.588T>G	c.(586-588)ACT>ACG	p.T196T	GRM1_uc010khu.1_Silent_p.T196T|GRM1_uc010khv.1_Silent_p.T196T|GRM1_uc003qll.2_Silent_p.T196T|GRM1_uc011edz.1_Silent_p.T196T|GRM1_uc011eea.1_Silent_p.T196T	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	196	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GTGACAAAACTTTGTACAAAT	0.493													G	146351241	T	G	146351241	2	3	96	1	0	0	0	0	0	0	0	1	6796	1596	56	5		5	GRM1	6	146351241	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	11111244	146351241	24763826	503	63465											
GRM1	2911	broad.mit.edu	37	chr6	146755850	146755850	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccagctcccccgtgtccgAgtcggtgctctgcacccctc	10	20	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:146755850A>C	uc010khw.1	+	9	3973	c.3503A>C	c.(3502-3504)GAG>GCG	p.E1168A	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1168	Ser-rich.|Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCGTGTCCGAGTCGGTGCTC	0.632													C	146755850	A	C	146755850	3	2	96	1	0	0	0	0	1	0	0	0	6796	304	11	5	3598	5	GRM1	6	146755850	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	404609	146755850	24359217	504	63466											
TAB2	23118	broad.mit.edu	37	chr6	149699164	149699164	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttttcatagaataataataAcctggatgcctgctgtgctg	9	7	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:149699164A>T	uc003qmj.2	+	3	291	c.113A>T	c.(112-114)AAC>ATC	p.N38I	TAB2_uc011eec.1_Missense_Mutation_p.N6I|TAB2_uc010kia.1_Missense_Mutation_p.N38I|TAB2_uc010kib.1_Missense_Mutation_p.N38I|TAB2_uc003qmk.3_RNA	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	38	CUE.				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0						AATAATAATAACCTGGATGCC	0.338													T	149699164	A	T	149699164	3	4	96	1	0	0	0	0	1	0	0	0	15493	43	2	5	119	5	TAB2	6	149699164	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2943314	149699164	21415903	505	63467											
RAET1E	135250	broad.mit.edu	37	chr6	150209679	150209679	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctgccactcaccattTtgccaccagacacagatgag	7	16	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:150209679T>G	uc003qnl.1	-	4	807	c.747A>C	c.(745-747)CAA>CAC	p.Q249H	uc003qni.1_Intron|RAET1E_uc003qnj.2_Intron|RAET1E_uc003qnk.1_Missense_Mutation_p.Q213H|RAET1E_uc010kih.1_RNA	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E precursor	249	Cytoplasmic (Potential).				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		ACTCACCATTTTGCCACCAGA	0.507													G	150209679	T	G	150209679	3	3	96	1	0	0	0	0	1	0	0	0	12999	1838	64	5	48	5	RAET1E	6	150209679	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	510515	150209679	20905388	506	63468											
PLEKHG1	57480	broad.mit.edu	37	chr6	151152705	151152705	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgactctcccagtggtaacTtgtctatgcctcataagcct	7	12	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:151152705T>G	uc003qny.1	+	16	2770	c.2458T>G	c.(2458-2460)TTG>GTG	p.L820V	PLEKHG1_uc011eel.1_Missense_Mutation_p.L860V|PLEKHG1_uc011eem.1_Missense_Mutation_p.L879V|PLEKHG1_uc003qnz.2_Missense_Mutation_p.L820V	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	820					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CAGTGGTAACTTGTCTATGCC	0.458													G	151152705	T	G	151152705	3	3	96	1	0	0	0	0	1	0	0	0	12068	1606	56	5	2512	5	PLEKHG1	6	151152705	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	943026	151152705	19962362	507	63469											
SERAC1	84947	broad.mit.edu	37	chr6	158537312	158537312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctgaatgcaatggacTttctgaacaaaacaaaaaca	6	8	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:158537312T>C	uc003qrc.2	-	14	1548	c.1406A>G	c.(1405-1407)AAG>AGG	p.K469R	SERAC1_uc003qrb.2_Missense_Mutation_p.K197R	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	serine active site containing 1	469					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds				0		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TGCAATGGACTTTCTGAACAA	0.433													C	158537312	T	C	158537312	3	2	96	1	0	0	0	0	1	0	0	0	14074	1609	56	3	574	3	SERAC1	6	158537312	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	7384607	158537312	12577755	508	63470											
FNDC1	84624	broad.mit.edu	37	chr6	159653494	159653494	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggtggactcagacgaagaTgagcgcgctgtgggctccct	15	10	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:159653494T>G	uc010kjv.2	+	11	2150	c.1950T>G	c.(1948-1950)GAT>GAG	p.D650E	FNDC1_uc010kjw.1_Missense_Mutation_p.D535E	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	650						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CAGACGAAGATGAGCGCGCTG	0.687													G	159653494	T	G	159653494	3	3	96	1	0	0	0	0	1	0	0	0	5968	1461	51	5	1992	5	FNDC1	6	159653494	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1116182	159653494	11461573	509	63471											
LPA	4018	broad.mit.edu	37	chr6	160953592	160953592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagtgcctctggccaaatGctcagcacaaatatacttat	7	11	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:160953592G>A	uc003qtl.2	-	39	6052	c.5932C>T	c.(5932-5934)CAT>TAT	p.H1978Y		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	4486	Peptidase S1.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTGGCCAAATGCTCAGCACAA	0.458													A	160953592	G	A	160953592	3	1	96	1	0	0	0	0	1	0	0	0	8903	1319	46	2	198	2	LPA	6	160953592	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	1300098	160953592	10161475	510	63472											
LPA	4018	broad.mit.edu	37	chr6	161022106	161022106	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgccacaggatctggattTcggcagtagttcttgatcaa	11	9	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:161022106T>C	uc003qtl.2	-	20	3090	c.2970A>G	c.(2968-2970)CGA>CGG	p.R990R		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3498	Kringle 31.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GATCTGGATTTCGGCAGTAGT	0.448													C	161022106	T	C	161022106	2	2	96	1	0	0	0	0	0	0	0	1	8903	1770	62	3		3	LPA	6	161022106	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	68514	161022106	10092961	511	63473											
UNC93A	54346	broad.mit.edu	37	chr6	167717594	167717594	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacagtggattgcagcaAggattcctctccagcgaata	10	10	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:167717594A>C	uc003qvq.2	+	5	988	c.813A>C	c.(811-813)CAA>CAC	p.Q271H	UNC93A_uc003qvr.2_Missense_Mutation_p.Q229H	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	271	Helical; (Potential).					integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GATTGCAGCAAGGATTCCTCT	0.358													C	167717594	A	C	167717594	3	2	96	1	0	0	0	0	1	0	0	0	16993	69	3	5	831	5	UNC93A	6	167717594	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	6695488	167717594	3397473	512	63474											
PHF10	55274	broad.mit.edu	37	chr6	170105268	170105268	+	Frame_Shift_Del	DEL	A	A	-													gcccacacaaaaagtatgatAacctctgtcacacatatcac							TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr6:170105267_170105267TA>T	uc011egy.2	-	10	1452	c.1373_1373TA>A	c.(1372-1374)tatfs	p.Y458fs	C6orf120_uc003qxb.3_3'UTR|PHF10_uc011egz.2_Frame_Shift_Del_p.Y456fs	NM_018288	NP_060758	Q8WUB8	PHF10_HUMAN	Homo sapiens PHD finger protein 10 (PHF10), transcript variant 1, mRNA.	458					nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		AAAAGTATGATAACCTCTGTC	0.403													-	170105268	A	-	170105268	7	5	96	1	0	1	0	1	0	0	0	0	11821	362	13	0	132	0	PHF10	6	170105268	Frame_Shift_Del	DEL	A	TCGA-BR-8589-01A-11D-2394-08	2387674	170105268	1009799	513	63475											
FOXK1	221937	broad.mit.edu	37	chr7	4800889	4800889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaacggaaagcatgcggttCccacgaacagtttagccggc	12	11	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:4800889C>T	uc003snc.1	+	8	1901	c.1891C>T	c.(1891-1893)CCC>TCC	p.P631S	FOXK1_uc003sna.1_Missense_Mutation_p.P468S	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	forkhead box K1	631					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			upper_aerodigestive_tract(1)|skin(1)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GCATGCGGTTCCCACGAACAG	0.637													T	4800889	C	T	4800889	3	4	96	1	0	0	0	0	1	0	0	0	6014	855	30	4	1921	4	FOXK1	7	4800889	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08		4800889	154337774	514	63476											
WIPI2	26100	broad.mit.edu	37	chr7	5254322	5254322	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caacacgattctggctgtgaAgctcaacaggcaggtgagcg	13	10	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:5254322A>C	uc003snv.2	+	4	584	c.368A>C	c.(367-369)AAG>ACG	p.K123T	WIPI2_uc003snw.2_Missense_Mutation_p.K123T|WIPI2_uc003snx.2_Missense_Mutation_p.K105T|WIPI2_uc003sny.2_Missense_Mutation_p.K105T|WIPI2_uc010ksv.2_5'UTR|WIPI2_uc003snz.2_Missense_Mutation_p.K64T|WIPI2_uc003soa.2_Missense_Mutation_p.K64T	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	123					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		CTGGCTGTGAAGCTCAACAGG	0.567													C	5254322	A	C	5254322	3	2	96	1	0	0	0	0	1	0	0	0	17368	72	3	5	416	5	WIPI2	7	5254322	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	453433	5254322	153884341	515	63477											
PMS2	5395	broad.mit.edu	37	chr7	6026899	6026899	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacccctcagaatccacggaAgtgctgccgtgccccgagtc	10	16	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:6026899A>C	uc003spl.2	-	11	1584	c.1497T>G	c.(1495-1497)ACT>ACG	p.T499T	PMS2_uc003spj.2_Silent_p.T393T|PMS2_uc003spk.2_Silent_p.T364T|PMS2_uc011jwl.1_Silent_p.T364T|PMS2_uc010ktg.2_Silent_p.T188T|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Silent_p.T499T	NM_000535	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 isoform	499					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AATCCACGGAAGTGCTGCCGT	0.632			Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				C	6026899	A	C	6026899	2	2	96	1	0	0	0	0	0	0	0	1	12143	59	3	5		5	PMS2	7	6026899	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	772577	6026899	153111764	516	63478											
USP42	84132	broad.mit.edu	37	chr7	6193751	6193751	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggaagccccggaagggttgAgtccggctccgcctgcgcgg	17	14	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:6193751A>G	uc011jwo.1	+	15	2689	c.2566A>G	c.(2566-2568)AGT>GGT	p.S856G	USP42_uc011jwp.1_Missense_Mutation_p.S856G|USP42_uc011jwq.1_Missense_Mutation_p.S663G|USP42_uc011jwr.1_Missense_Mutation_p.S701G	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	856	Pro-rich.				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GGAAGGGTTGAGTCCGGCTCC	0.701													G	6193751	A	G	6193751	3	3	96	1	0	0	0	0	1	0	0	0	17070	304	11	3		3	USP42	7	6193751	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	166852	6193751	152944912	517	63479											
FAM126A	84668	broad.mit.edu	37	chr7	22999995	22999995	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accttccttattagatttcaTgggaccatgaggcaatgaag	9	8	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:22999995T>G	uc003svm.3	-	10	1126	c.871A>C	c.(871-873)ATG>CTG	p.M291L	FAM126A_uc003svn.3_Missense_Mutation_p.M147L	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	291						cytoplasm|membrane	signal transducer activity			central_nervous_system(1)	1						TTAGATTTCATGGGACCATGA	0.363													G	22999995	T	G	22999995	3	3	96	1	0	0	0	0	1	0	0	0	5429	1464	51	5	702	5	FAM126A	7	22999995	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	16806244	22999995	136138668	518	63480											
HOXA9	3205	broad.mit.edu	37	chr7	27204678	27204678	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggccgacagcggttcaggTttaatgccataaggccggct	13	11	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:27204678T>G	uc003syt.2	-	1	472	c.399A>C	c.(397-399)AAA>AAC	p.K133N		NM_152739	NP_689952	P31269	HXA9_HUMAN	homeobox A9	133							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)	2						GCGGTTCAGGTTTAATGCCAT	0.627			T	NUP98|MSI2	AML*								G	27204678	T	G	27204678	3	3	96	1	0	0	0	0	1	0	0	0	7298	1722	60	5	427	5	HOXA9	7	27204678	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4204683	27204678	131933985	519	63481											
TAX1BP1	8887	broad.mit.edu	37	chr7	27832746	27832746	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatctgaaactccgtcTtcagatggctgcagaccatt	9	10	3	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:27832746T>G	uc003szl.2	+	10	1483	c.1325T>G	c.(1324-1326)CTT>CGT	p.L442R	TAX1BP1_uc011jzo.1_Missense_Mutation_p.L442R|TAX1BP1_uc003szk.2_Missense_Mutation_p.L442R|TAX1BP1_uc011jzp.1_Missense_Mutation_p.L285R	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	442	Potential.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)	1			GBM - Glioblastoma multiforme(3;0.0823)			AAACTCCGTCTTCAGATGGCT	0.323													G	27832746	T	G	27832746	3	3	96	1	0	0	0	0	1	0	0	0	15591	1609	56	5	1359	5	TAX1BP1	7	27832746	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	628068	27832746	131305917	520	63482											
C7orf16	10842	broad.mit.edu	37	chr7	31735091	31735091	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaaaattagatgatcttTcagaccagttcattaaggac	7	7	4	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:31735091T>G	uc003tcl.2	+	3	249	c.91T>G	c.(91-93)TCA>GCA	p.S31A	C7orf16_uc011kaf.1_Intron	NM_006658	NP_006649	O96001	GSUB_HUMAN	G-substrate isoform 1	31					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction				ovary(2)|central_nervous_system(1)	3			GBM - Glioblastoma multiforme(11;0.216)			AGATGATCTTTCAGACCAGTT	0.363													G	31735091	T	G	31735091	3	3	96	1	0	0	0	0	1	0	0	0	2378	1783	62	5	97	5	C7orf16	7	31735091	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3902345	31735091	127403572	521	63483											
ANLN	54443	broad.mit.edu	37	chr7	36463463	36463463	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacttaattatactaaaagcAggagctgaaaatatggtagc	8	5	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:36463463A>G	uc003tff.2	+	15	2718	c.2514A>G	c.(2512-2514)GCA>GCG	p.A838A	ANLN_uc011kaz.1_Silent_p.A750A|ANLN_uc003tfg.2_Silent_p.A801A|ANLN_uc010kxe.2_Silent_p.A800A	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	838	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3						TACTAAAAGCAGGAGCTGAAA	0.333													G	36463463	A	G	36463463	2	3	96	1	0	0	0	0	0	0	0	1	694	175	7	3		3	ANLN	7	36463463	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4728372	36463463	122675200	522	63484											
GLI3	2737	broad.mit.edu	37	chr7	42005617	42005617	+	Silent	SNP	C	C	A													ctgaagcgcggcacacgaggCagggccaggccctcggagcc							TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:42005617C>A	uc011kbh.1	-	15	3145	c.3054G>T	c.(3052-3054)CTG>CTT	p.L1018L	GLI3_uc011kbg.1_Silent_p.L959L	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1018					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GCACACGAGGCAGGGCCAGGC	0.726									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42005617	C	A	42005617	2	1	96	1	0	0	0	0	0	0	0	1	6439	697	25	5		5	GLI3	7	42005617	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	5542154	42005617	117133046	523	63485	305	2									
GLI3	2737	broad.mit.edu	37	chr7	42005620	42005620	+	Silent	SNP	G	G	A													aagcgcggcacacgaggcagGgccaggccctcggagcctgt							TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:42005620G>A	uc011kbh.1	-	15	3142	c.3051C>T	c.(3049-3051)GCC>GCT	p.A1017A	GLI3_uc011kbg.1_Silent_p.A958A	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1017					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CACGAGGCAGGGCCAGGCCCT	0.726									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42005620	G	A	42005620	2	1	96	1	0	0	0	0	0	0	0	1	6439	1219	43	4		4	GLI3	7	42005620	Silent	SNP	G	TCGA-BR-8589-01A-11D-2394-08	3	42005620	117133043	524	63486	305	2									
MRPL32	64983	broad.mit.edu	37	chr7	42977040	42977040	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agacgacagatagggaagcaAgaagggggcccttttaaggc	15	7	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:42977040A>T	uc003tia.2	+	3	479	c.432A>T	c.(430-432)CAA>CAT	p.Q144H	MRPL32_uc003tib.2_RNA|MRPL32_uc003tic.2_Missense_Mutation_p.Q91H	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32 precursor	144					translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome				0						TAGGGAAGCAAGAAGGGGGCC	0.498													T	42977040	A	T	42977040	3	4	96	1	0	0	0	0	1	0	0	0	9795	69	3	5	442	5	MRPL32	7	42977040	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	971420	42977040	116161623	525	63487											
UBE2D4	51619	broad.mit.edu	37	chr7	43978042	43978042	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttctaggaattaaccgacTtgcagagggatcctcctgcc	10	11	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:43978042T>C	uc003tja.1	+	2	122	c.37T>C	c.(37-39)TTG>CTG	p.L13L	UBE2D4_uc003tjb.1_5'UTR	NM_015983	NP_057067	Q9Y2X8	UB2D4_HUMAN	ubiquitin-conjugating enzyme E2D 4 (putative)	13					protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity				0						ATTAACCGACTTGCAGAGGGA	0.488													C	43978042	T	C	43978042	2	2	96	1	0	0	0	0	0	0	0	1	16848	1606	56	3		3	UBE2D4	7	43978042	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1001002	43978042	115160621	526	63488											
POLD2	5425	broad.mit.edu	37	chr7	44156474	44156474	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggttgccagcgaggataAcccgggagacgtgggcggcg	20	9	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:44156474A>C	uc010kxz.2	-	7	1372	c.722T>G	c.(721-723)GTT>GGT	p.V241G	POLD2_uc003tke.3_Missense_Mutation_p.V241G|POLD2_uc010kya.2_Missense_Mutation_p.V241G|POLD2_uc003tkf.3_Missense_Mutation_p.V241G	NM_006230	NP_006221	P49005	DPOD2_HUMAN	DNA-directed DNA polymerase delta 2	241					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			ovary(2)	2						AGCGAGGATAACCCGGGAGAC	0.652													C	44156474	A	C	44156474	3	2	96	1	0	0	0	0	1	0	0	0	12191	43	2	5	711	5	POLD2	7	44156474	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	178432	44156474	114982189	527	63489											
CAMK2B	816	broad.mit.edu	37	chr7	44260282	44260282	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagtgcttcaggctcaaaCgaggtcagccctgggtcaca	11	14	4	0	rs71743307		TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:44260282C>T	uc003tkq.2	-	22	1911	c.1701G>A	c.(1699-1701)TCG>TCA	p.S567S	CAMK2B_uc003tkp.2_Silent_p.S443S|CAMK2B_uc003tkx.2_Silent_p.S403S|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Silent_p.S419S|CAMK2B_uc003tks.2_Silent_p.S418S|CAMK2B_uc003tku.2_Silent_p.S404S|CAMK2B_uc003tkv.2_Silent_p.S380S|CAMK2B_uc003tkt.2_Intron|CAMK2B_uc003tkw.2_Silent_p.S350S|CAMK2B_uc010kyc.2_Silent_p.S443S|CAMK2B_uc003tkn.2_Silent_p.S200S	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II	567					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)|ovary(1)	2						CAGGCTCAAACGAGGTCAGCC	0.617													T	44260282	C	T	44260282	2	4	96	1	0	0	0	0	0	0	0	1	2600	523	19	1		1	CAMK2B	7	44260282	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	103808	44260282	114878381	528	63490											
HUS1	3364	broad.mit.edu	37	chr7	48007476	48007476	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctaatatctatgtgcacTtcagccatgtgttccacgtt	6	11	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:48007476T>G	uc003tod.1	-	7	817	c.687A>C	c.(685-687)GAA>GAC	p.E229D	HUS1_uc003toe.1_Missense_Mutation_p.E229D|HUS1_uc011kce.1_RNA	NM_004507	NP_004498	O60921	HUS1_HUMAN	HUS1 checkpoint protein	229					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			ovary(2)|lung(2)|kidney(1)	5		Breast(660;0.00139)				CTATGTGCACTTCAGCCATGT	0.418								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					G	48007476	T	G	48007476	3	3	96	1	0	0	0	0	1	0	0	0	7459	1606	56	5	163	5	HUS1	7	48007476	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3747194	48007476	111131187	529	63491											
SUN3	256979	broad.mit.edu	37	chr7	48056918	48056918	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatataattgtctggattTctgaggaacatctgtttctt	9	6	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:48056918T>C	uc003tof.2	-	4	326	c.229A>G	c.(229-231)AAA>GAA	p.K77E	SUN3_uc003tog.2_Missense_Mutation_p.K77E|SUN3_uc011kcf.1_Missense_Mutation_p.K65E	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 1	77						integral to membrane				central_nervous_system(1)	1						TGTCTGGATTTCTGAGGAACA	0.289													C	48056918	T	C	48056918	3	2	96	1	0	0	0	0	1	0	0	0	15390	1792	62	3	876	3	SUN3	7	48056918	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	49442	48056918	111081745	530	63492											
ABCA13	154664	broad.mit.edu	37	chr7	48318068	48318068	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaacagagatggcaagacTtctggatacaattttacact	7	8	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:48318068T>G	uc003toq.2	+	18	7302	c.7277T>G	c.(7276-7278)CTT>CGT	p.L2426R	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2426					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						ATGGCAAGACTTCTGGATACA	0.378													G	48318068	T	G	48318068	3	3	96	1	0	0	0	0	1	0	0	0	31	1609	56	5	7176	5	ABCA13	7	48318068	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	261150	48318068	110820595	531	63493											
ABCA13	154664	broad.mit.edu	37	chr7	48319207	48319207	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgacacacctttgagtcagAatataactcatcatcaactt	4	10	4	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:48319207A>C	uc003toq.2	+	18	8441	c.8416A>C	c.(8416-8418)AAT>CAT	p.N2806H	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2806					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TTTGAGTCAGAATATAACTCA	0.333													C	48319207	A	C	48319207	3	2	96	1	0	0	0	0	1	0	0	0	31	246	9	5	8315	5	ABCA13	7	48319207	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1139	48319207	110819456	532	63494											
ZPBP	11055	broad.mit.edu	37	chr7	50057857	50057857	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaaagtcttttgtaaggTtcacagttatggtctgtaca	8	5	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:50057857T>G	uc003tou.2	-	6	832	c.762A>C	c.(760-762)GAA>GAC	p.E254D	ZPBP_uc011kci.1_Missense_Mutation_p.E180D|ZPBP_uc010kyw.2_Missense_Mutation_p.E253D	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein isoform 1	254					binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)					TTTTGTAAGGTTCACAGTTAT	0.333													G	50057857	T	G	50057857	3	3	96	1	0	0	0	0	1	0	0	0	18216	1722	60	5	305	5	ZPBP	7	50057857	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1738650	50057857	109080806	533	63495											
STAG3L4	64940	broad.mit.edu	37	chr7	66773968	66773968	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtctatcctggaagaAgttccagggcagcttctgtg	12	10	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:66773968A>C	uc003tvt.3	+	3	401	c.134A>C	c.(133-135)AAG>ACG	p.K45T	STAG3L4_uc010laj.2_RNA	NM_022906	NP_075057	Q8TBR4	STG34_HUMAN	stromal antigen 3-like 4	45											0		Lung NSC(55;0.0839)|all_lung(88;0.181)				TCCTGGAAGAAGTTCCAGGGC	0.498													C	66773968	A	C	66773968	3	2	96	1	0	0	0	0	1	0	0	0	15246	72	3	5	140	5	STAG3L4	7	66773968	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	16716111	66773968	92364695	534	63496											
PCLO	27445	broad.mit.edu	37	chr7	82785475	82785475	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaaacagcacttaaagcgTtaacctctgagaggaagcca	10	9	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:82785475T>G	uc003uhx.2	-	2	771	c.482A>C	c.(481-483)AAC>ACC	p.N161T	PCLO_uc003uhv.2_Missense_Mutation_p.N161T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	161					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ACTTAAAGCGTTAACCTCTGA	0.398													G	82785475	T	G	82785475	3	3	96	1	0	0	0	0	1	0	0	0	11583	1725	60	5	15059	5	PCLO	7	82785475	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	16011507	82785475	76353188	535	63497											
CROT	54677	broad.mit.edu	37	chr7	87022280	87022280	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagcggaggaggtggaaatTttgttctctcaacaagtctg	12	7	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:87022280T>G	uc003uit.2	+	17	1860	c.1615T>G	c.(1615-1617)TTT>GTT	p.F539V	CROT_uc003uiu.2_Missense_Mutation_p.F567V	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN	peroxisomal carnitine O-octanoyltransferase	539					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			ovary(2)|lung(1)	3	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AGGTGGAAATTTTGTTCTCTC	0.383													G	87022280	T	G	87022280	3	3	96	1	0	0	0	0	1	0	0	0	3894	1841	64	5	1761	5	CROT	7	87022280	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4236805	87022280	72116383	536	63498											
ABCB4	5244	broad.mit.edu	37	chr7	87072685	87072685	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcagctggaccgttgtgcTcttcccacagccactacttc	7	15	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:87072685T>C	uc003uiv.1	-	12	1382	c.1306A>G	c.(1306-1308)AGC>GGC	p.S436G	ABCB4_uc003uiw.1_Missense_Mutation_p.S436G|ABCB4_uc003uix.1_Missense_Mutation_p.S436G	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	436	ABC transporter 1.|Cytoplasmic (By similarity).|ATP 1 (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					ACCGTTGTGCTCTTCCCACAG	0.507													C	87072685	T	C	87072685	3	2	96	1	0	0	0	0	1	0	0	0	43	1551	54	3	2622	3	ABCB4	7	87072685	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	50405	87072685	72065978	537	63499											
ZNF804B	219578	broad.mit.edu	37	chr7	88962900	88962900	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcgttgtttgtttggaaatCaggtactgcaaacatcttca	10	7	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:88962900C>A	uc011khi.1	+	4	1142	c.604C>A	c.(604-606)CAG>AAG	p.Q202K		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	202						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTTTGGAAATCAGGTACTGCA	0.388										HNSCC(36;0.09)			A	88962900	C	A	88962900	3	1	96	1	0	0	0	0	1	0	0	0	18168	827	29	5	618	5	ZNF804B	7	88962900	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	1890215	88962900	70175763	538	63500											
CYP51A1	1595	broad.mit.edu	37	chr7	91753068	91753068	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtatgtagcatctagtaaAgtttggagaatgtcatcaat	9	4	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:91753068A>C	uc003ulm.3	-	6	1032	c.870T>G	c.(868-870)ACT>ACG	p.T290T	CYP51A1_uc011khn.1_Silent_p.T185T|CYP51A1_uc003uln.3_Silent_p.T227T	NM_000786	NP_000777	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A,	284					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity				0	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	CATCTAGTAAAGTTTGGAGAA	0.353													C	91753068	A	C	91753068	2	2	96	1	0	0	0	0	0	0	0	1	4195	59	3	5		5	CYP51A1	7	91753068	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2790168	91753068	67385595	539	63501											
SAMD9	54809	broad.mit.edu	37	chr7	92733452	92733452	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcattttcacagataatTtccagagcagtcatgatatc	5	9	3	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:92733452T>C	uc003umf.2	-	3	2215	c.1959A>G	c.(1957-1959)GAA>GAG	p.E653E	SAMD9_uc003umg.2_Silent_p.E653E	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	653						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CACAGATAATTTCCAGAGCAG	0.363													C	92733452	T	C	92733452	2	2	96	1	0	0	0	0	0	0	0	1	13826	1838	64	3		3	SAMD9	7	92733452	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	980384	92733452	66405211	540	63502											
TAC1	6863	broad.mit.edu	37	chr7	97362037	97362037	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccgactggtacgacagcgAccagatcaaggtgaggcccc	13	13	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:97362037A>C	uc003uop.3	+	2	359	c.113A>C	c.(112-114)GAC>GCC	p.D38A	TAC1_uc003uoq.3_Missense_Mutation_p.D38A|TAC1_uc003uor.3_Missense_Mutation_p.D38A|TAC1_uc003uos.3_Missense_Mutation_p.D38A	NM_003182	NP_003173	P20366	TKN1_HUMAN	tachykinin 1 isoform beta precursor	38					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space					0	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	TACGACAGCGACCAGATCAAG	0.557													C	97362037	A	C	97362037	3	2	96	1	0	0	0	0	1	0	0	0	15495	275	10	5	115	5	TAC1	7	97362037	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4628585	97362037	61776626	541	63503											
TAC1	6863	broad.mit.edu	37	chr7	97363046	97363046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcccaggaggaactgccGgagccctttgagcatcttct	11	13	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:97363046G>A	uc003uop.3	+	3	381	c.135G>A	c.(133-135)CCG>CCA	p.P45P	TAC1_uc003uoq.3_Silent_p.P45P|TAC1_uc003uor.3_Silent_p.P45P|TAC1_uc003uos.3_Silent_p.P45P	NM_003182	NP_003173	P20366	TKN1_HUMAN	tachykinin 1 isoform beta precursor	45					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space					0	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	AGGAACTGCCGGAGCCCTTTG	0.597													A	97363046	G	A	97363046	2	1	96	1	0	0	0	0	0	0	0	1	15495	1103	39	1		1	TAC1	7	97363046	Silent	SNP	G	TCGA-BR-8589-01A-11D-2394-08	1009	97363046	61775617	542	63504											
LMTK2	22853	broad.mit.edu	37	chr7	97820058	97820058	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtctctgggtgtgacactTtgggagctttttgacaatgc	13	7	1	2	rs150799700		TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:97820058T>G	uc003upd.1	+	10	1310	c.1017T>G	c.(1015-1017)CTT>CTG	p.L339L		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	339	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GTGTGACACTTTGGGAGCTTT	0.418													G	97820058	T	G	97820058	2	3	96	1	0	0	0	0	0	0	0	1	8859	1828	64	5		5	LMTK2	7	97820058	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	457012	97820058	61318605	543	63505											
LMTK2	22853	broad.mit.edu	37	chr7	97821396	97821396	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctggagtggttcctgtttTtgatgcccacaacctttctg	9	12	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:97821396T>G	uc003upd.1	+	11	1912	c.1619T>G	c.(1618-1620)TTT>TGT	p.F540C		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	540					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GTTCCTGTTTTTGATGCCCAC	0.493													G	97821396	T	G	97821396	3	3	96	1	0	0	0	0	1	0	0	0	8859	1841	64	5	1661	5	LMTK2	7	97821396	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1338	97821396	61317267	544	63506											
LMTK2	22853	broad.mit.edu	37	chr7	97821440	97821440	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcgactattatatccagTtagaagaaaaaagtggtagt	10	4	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:97821440T>G	uc003upd.1	+	11	1956	c.1663T>G	c.(1663-1665)TTA>GTA	p.L555V		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	555					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TTATATCCAGTTAGAAGAAAA	0.502													G	97821440	T	G	97821440	3	3	96	1	0	0	0	0	1	0	0	0	8859	1722	60	5	1705	5	LMTK2	7	97821440	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	44	97821440	61317223	545	63507											
C7orf51	222950	broad.mit.edu	37	chr7	100084688	100084688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcggggccagtgggggcCtcacagaggacagcagcacc	17	13	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:100084688C>T	uc003uvd.1	+	3	472	c.313C>T	c.(313-315)CTC>TTC	p.L105F	C7orf51_uc003uve.1_5'Flank	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	105										skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGTGGGGGCCTCACAGAGGA	0.721													T	100084688	C	T	100084688	3	4	96	1	0	0	0	0	1	0	0	0	2400	681	24	4	319	4	C7orf51	7	100084688	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	2263248	100084688	59053975	546	63508											
FBXO24	26261	broad.mit.edu	37	chr7	100190480	100190480	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccactcgggagccgcaggaAgtggtgggtaccaccagcag	16	12	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:100190480A>C	uc003uvm.1	+	5	926	c.633A>C	c.(631-633)GAA>GAC	p.E211D	FBXO24_uc010lha.1_RNA|FBXO24_uc003uvl.1_Missense_Mutation_p.E197D|FBXO24_uc003uvn.1_5'UTR|uc011kjy.1_RNA|FBXO24_uc011kjz.1_Missense_Mutation_p.E249D|FBXO24_uc011kka.1_Missense_Mutation_p.E199D	NM_033506	NP_277041	O75426	FBX24_HUMAN	F-box only protein 24 isoform 1	211						ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGCCGCAGGAAGTGGTGGGTA	0.562													C	100190480	A	C	100190480	3	2	96	1	0	0	0	0	1	0	0	0	5735	69	3	5	808	5	FBXO24	7	100190480	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	105792	100190480	58948183	547	63509											
MUC17	140453	broad.mit.edu	37	chr7	100680229	100680229	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggtcacttctacagcAgtcagttcatctcctacacc	6	15	5	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:100680229A>T	uc003uxp.1	+	3	5585	c.5532A>T	c.(5530-5532)GCA>GCT	p.A1844A	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1844	Extracellular (Potential).|Ser-rich.|29.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTCTACAGCAGTCAGTTCAT	0.502													T	100680229	A	T	100680229	2	4	96	1	0	0	0	0	0	0	0	1	9974	175	7	5		5	MUC17	7	100680229	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	489749	100680229	58458434	548	63510											
MUC17	140453	broad.mit.edu	37	chr7	100680882	100680882	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtcagttctgagggtaAcaccctttcaacaactcctg	9	11	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:100680882A>C	uc003uxp.1	+	3	6238	c.6185A>C	c.(6184-6186)AAC>ACC	p.N2062T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2062	Extracellular (Potential).|32.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTGAGGGTAACACCCTTTCA	0.493													C	100680882	A	C	100680882	3	2	96	1	0	0	0	0	1	0	0	0	9974	43	2	5	6195	5	MUC17	7	100680882	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	653	100680882	58457781	549	63511											
MOGAT3	346606	broad.mit.edu	37	chr7	100841487	100841487	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcacccgtgcctcagcgccAggcgcacgaagcctttgcgc	11	18	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:100841487A>C	uc003uyc.2	-	5	820	c.653T>G	c.(652-654)CTG>CGG	p.L218R	MOGAT3_uc010lhr.2_Missense_Mutation_p.L218R	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	218					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			ovary(2)	2	Lung NSC(181;0.168)|all_lung(186;0.215)					CCTCAGCGCCAGGCGCACGAA	0.637													C	100841487	A	C	100841487	3	2	96	1	0	0	0	0	1	0	0	0	9696	188	7	5	384	5	MOGAT3	7	100841487	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	160605	100841487	58297176	550	63512											
LRWD1	222229	broad.mit.edu	37	chr7	102109080	102109080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacgggcatcgtgctccaCaagtacaaggcacccggcga	12	14	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:102109080C>T	uc003uzn.2	+	8	1137	c.999C>T	c.(997-999)CAC>CAT	p.H333H	LRWD1_uc003uzo.2_Silent_p.H181H	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain	333					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			skin(1)	1						TCGTGCTCCACAAGTACAAGG	0.637													T	102109080	C	T	102109080	2	4	96	1	0	0	0	0	0	0	0	1	9047	477	17	4		4	LRWD1	7	102109080	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	1267593	102109080	57029583	551	63513											
FBXL13	222235	broad.mit.edu	37	chr7	102608482	102608482	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacttacagcattccacagtGagtttagttgtgtcatcaac	7	9	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:102608482G>A	uc003vaq.2	-	7	1005	c.578C>T	c.(577-579)TCA>TTA	p.S193L	FBXL13_uc010liq.1_Missense_Mutation_p.S8L|FBXL13_uc010lir.1_Missense_Mutation_p.S193L|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.S193L|FBXL13_uc003vav.2_RNA	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	193	F-box.										0						ATTCCACAGTGAGTTTAGTTG	0.373													A	102608482	G	A	102608482	3	1	96	1	0	0	0	0	1	0	0	0	5709	1294	45	4	1685	4	FBXL13	7	102608482	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	499402	102608482	56530181	552	63514											
RELN	5649	broad.mit.edu	37	chr7	103185604	103185604	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgagaaaatcaggattttTggtgcttattttacaggttg	10	3	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:103185604T>C	uc003vca.2	-	42	6650	c.6490A>G	c.(6490-6492)AAA>GAA	p.K2164E	RELN_uc010liz.2_Missense_Mutation_p.K2164E	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2164					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCAGGATTTTTGGTGCTTATT	0.373													C	103185604	T	C	103185604	3	2	96	1	0	0	0	0	1	0	0	0	13220	1821	63	3	3988	3	RELN	7	103185604	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	577122	103185604	55953059	553	63515											
COG5	10466	broad.mit.edu	37	chr7	107198467	107198467	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgattccttgggcaagtTttgctagttgttcagcaatt	10	7	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:107198467T>G	uc003ved.2	-	2	806	c.281A>C	c.(280-282)AAA>ACA	p.K94T	COG5_uc003vec.2_Missense_Mutation_p.K94T|COG5_uc003vee.2_Missense_Mutation_p.K94T	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	94					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						TTGGGCAAGTTTTGCTAGTTG	0.363													G	107198467	T	G	107198467	3	3	96	1	0	0	0	0	1	0	0	0	3661	1841	64	5	2389	5	COG5	7	107198467	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4012863	107198467	51940196	554	63516											
LAMB1	3912	broad.mit.edu	37	chr7	107564421	107564421	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcatgtgctatacacagcaActttctggcttatatccttt	6	10	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:107564421A>C	uc003vew.2	-	34	5671	c.5336T>G	c.(5335-5337)GTT>GGT	p.V1779G	LAMB1_uc003vev.2_Missense_Mutation_p.V1803G|LAMB1_uc003veu.2_Missense_Mutation_p.V262G	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	1779	Potential.|Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATACACAGCAACTTTCTGGCT	0.353													C	107564421	A	C	107564421	3	2	96	1	0	0	0	0	1	0	0	0	8610	43	2	5	28	5	LAMB1	7	107564421	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	365954	107564421	51574242	555	63517											
LAMB4	22798	broad.mit.edu	37	chr7	107720140	107720140	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccagggagaaccctggcaAatccaggtccagtccatgta	10	14	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:107720140A>G	uc010ljo.1	-	15	1877	c.1793T>C	c.(1792-1794)TTT>TCT	p.F598S	LAMB4_uc003vey.2_Missense_Mutation_p.F598S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	598	Laminin IV type B.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						AACCCTGGCAAATCCAGGTCC	0.517													G	107720140	A	G	107720140	3	3	96	1	0	0	0	0	1	0	0	0	8613	14	1	3	3572	3	LAMB4	7	107720140	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	155719	107720140	51418523	556	63518											
DOCK4	9732	broad.mit.edu	37	chr7	111509658	111509658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctggatatgctcttgcCgctctgcttctgtgatccgg	10	14	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:111509658C>T	uc003vfx.2	-	21	2350	c.2081G>A	c.(2080-2082)CGG>CAG	p.R694Q	DOCK4_uc003vfw.2_Missense_Mutation_p.R135Q|DOCK4_uc003vfy.2_Missense_Mutation_p.R694Q|DOCK4_uc003vga.1_Missense_Mutation_p.R299Q	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	694					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				ATGCTCTTGCCGCTCTGCTTC	0.423													T	111509658	C	T	111509658	3	4	96	1	0	0	0	0	1	0	0	0	4689	652	23	1	3947	1	DOCK4	7	111509658	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	3789518	111509658	47629005	557	63519											
TFEC	22797	broad.mit.edu	37	chr7	115581990	115581990	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttagcctgctctaatttcTtctgtctgtgttccaattct	6	10	5	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:115581990T>G	uc003vhj.1	-	7	804	c.620A>C	c.(619-621)AAG>ACG	p.K207T	TFEC_uc003vhk.1_Missense_Mutation_p.K178T|TFEC_uc003vhl.3_Missense_Mutation_p.K178T|TFEC_uc011kmw.1_Missense_Mutation_p.K297T	NM_012252	NP_036384	O14948	TFEC_HUMAN	transcription factor EC isoform a	207						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)	1			STAD - Stomach adenocarcinoma(10;0.00878)			CTCTAATTTCTTCTGTCTGTG	0.428													G	115581990	T	G	115581990	3	3	96	1	0	0	0	0	1	0	0	0	15799	1609	56	5	431	5	TFEC	7	115581990	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4072332	115581990	43556673	558	63520											
CFTR	1080	broad.mit.edu	37	chr7	117235071	117235071	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttactgtccacaagagcttaAtttttgtgctaatttggtgc	8	7	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:117235071A>C	uc003vjd.2	+	15	2710	c.2578A>C	c.(2578-2580)ATT>CTT	p.I860L	CFTR_uc011knq.1_Missense_Mutation_p.I266L	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	860	Helical; Name=7; (Potential).|ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CAAGAGCTTAATTTTTGTGCT	0.333									Cystic_Fibrosis				C	117235071	A	C	117235071	3	2	96	1	0	0	0	0	1	0	0	0	3294	101	4	5	2636	5	CFTR	7	117235071	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1653081	117235071	41903592	559	63521											
CTTNBP2	83992	broad.mit.edu	37	chr7	117431987	117431987	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactgtgcataggtggagcTtgcgagttctgaggagctat	14	6	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:117431987T>C	uc003vjf.2	-	4	1355	c.1263A>G	c.(1261-1263)CAA>CAG	p.Q421Q		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	421	Pro-rich.									ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TAGGTGGAGCTTGCGAGTTCT	0.527													C	117431987	T	C	117431987	2	2	96	1	0	0	0	0	0	0	0	1	4045	1606	56	3		3	CTTNBP2	7	117431987	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	196916	117431987	41706676	560	63522											
C7orf58	79974	broad.mit.edu	37	chr7	120704342	120704342	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcagaaaggaaggattAtgtcaaatagttagaagatt	10	3	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:120704342A>T	uc003vjq.3	+	5	1038	c.591A>T	c.(589-591)TTA>TTT	p.L197F	C7orf58_uc003vjr.1_Missense_Mutation_p.L197F|C7orf58_uc003vjs.3_Missense_Mutation_p.L197F|C7orf58_uc003vjt.3_5'UTR	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	197						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					AGGAAGGATTATGTCAAATAG	0.408													T	120704342	A	T	120704342	3	4	96	1	0	0	0	0	1	0	0	0	2405	446	16	5	605	5	C7orf58	7	120704342	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3272355	120704342	38434321	561	63523											
SLC13A1	6561	broad.mit.edu	37	chr7	122787232	122787232	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtattgaaatactctgcaaAgatcaagttggtggaggtac	11	6	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:122787232A>C	uc003vkm.2	-	7	818	c.793T>G	c.(793-795)TTT>GTT	p.F265V	SLC13A1_uc010lks.2_Missense_Mutation_p.F141V	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	265						integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)	TACTCTGCAAAGATCAAGTTG	0.388													C	122787232	A	C	122787232	3	2	96	1	0	0	0	0	1	0	0	0	14391	72	3	5	1030	5	SLC13A1	7	122787232	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2082890	122787232	36351431	562	63524											
ASB15	142685	broad.mit.edu	37	chr7	123270123	123270123	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgtgtgctaaactgaAgtctgcactagaagtacaga	9	9	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:123270123A>C	uc003vku.1	+	11	1836	c.1544A>C	c.(1543-1545)AAG>ACG	p.K515T	ASB15_uc003vkw.1_Missense_Mutation_p.K515T	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	515					intracellular signal transduction					skin(2)|lung(1)	3						GCTAAACTGAAGTCTGCACTA	0.368													C	123270123	A	C	123270123	3	2	96	1	0	0	0	0	1	0	0	0	1019	72	3	5	1574	5	ASB15	7	123270123	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	482891	123270123	35868540	563	63525											
CCDC136	64753	broad.mit.edu	37	chr7	128454771	128454771	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaggggcggcttctggTagtgcaggagcagctggagg	20	7	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:128454771T>C	uc003vnv.1	+	15	3210	c.2843T>C	c.(2842-2844)GTA>GCA	p.V948A	CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.V764A|CCDC136_uc010llq.1_Missense_Mutation_p.V317A|CCDC136_uc003vny.1_Intron	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	948	Potential.					integral to membrane	protein binding			ovary(2)	2						CGGCTTCTGGTAGTGCAGGAG	0.612													C	128454771	T	C	128454771	3	2	96	1	0	0	0	0	1	0	0	0	2770	1638	57	3	2901	3	CCDC136	7	128454771	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5184648	128454771	30683892	564	63526											
TNPO3	23534	broad.mit.edu	37	chr7	128619046	128619046	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gataactttacctgtgtgacTagtggctgcagcagtgctgc	12	9	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:128619046T>A	uc003vol.1	-	16	2426	c.2052A>T	c.(2050-2052)CTA>CTT	p.L684L	TNPO3_uc010llx.1_Silent_p.L95L|TNPO3_uc003vom.1_Silent_p.L618L|TNPO3_uc010lly.1_Silent_p.L718L|TNPO3_uc010llz.1_Silent_p.L620L	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	transportin 3	684					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			ovary(2)|skin(2)|lung(1)	5						CCTGTGTGACTAGTGGCTGCA	0.403													A	128619046	T	A	128619046	2	1	96	1	0	0	0	0	0	0	0	1	16334	1509	53	5		5	TNPO3	7	128619046	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	164275	128619046	30519617	565	63527											
TNPO3	23534	broad.mit.edu	37	chr7	128645196	128645196	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttctcatctgttcctgcTttttctacacaggtcatctg	5	11	5	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:128645196T>C	uc003vol.1	-	5	944	c.570A>G	c.(568-570)AAA>AAG	p.K190K	TNPO3_uc003vom.1_Silent_p.K124K|TNPO3_uc010lly.1_Silent_p.K190K|TNPO3_uc010llz.1_Silent_p.K190K	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	transportin 3	190					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			ovary(2)|skin(2)|lung(1)	5						CTGTTCCTGCTTTTTCTACAC	0.299													C	128645196	T	C	128645196	2	2	96	1	0	0	0	0	0	0	0	1	16334	1606	56	3		3	TNPO3	7	128645196	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	26150	128645196	30493467	566	63528											
TSGA14	95681	broad.mit.edu	37	chr7	130039931	130039931	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagataatattctatcttttTtaagtcttctggggtaaatc	6	6	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:130039931T>G	uc003vpz.2	-	10	969	c.922A>C	c.(922-924)AAA>CAA	p.K308Q	TSGA14_uc003vpy.2_Missense_Mutation_p.K70Q|TSGA14_uc010lmf.2_Missense_Mutation_p.K105Q|TSGA14_uc003vqa.2_Intron|TSGA14_uc011kpg.1_Intron	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN	testis specific, 14	308					G2/M transition of mitotic cell cycle	centrosome|cytosol					0	Melanoma(18;0.0435)					TCTATCTTTTTTAAGTCTTCT	0.463													G	130039931	T	G	130039931	3	3	96	1	0	0	0	0	1	0	0	0	16617	1850	64	5	207	5	TSGA14	7	130039931	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1394735	130039931	29098732	567	63529											
AKR1B15	441282	broad.mit.edu	37	chr7	134253009	134253009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagaatcaacatgaggtgGgagaagccatccaagagaag	13	6	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:134253009G>A	uc011kpr.1	+	4	549	c.250G>A	c.(250-252)GGA>AGA	p.G84R	AKR1B15_uc003vrt.2_Missense_Mutation_p.G56R|AKR1B15_uc011kps.1_Missense_Mutation_p.G56R	NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	84							oxidoreductase activity			ovary(1)	1						ACATGAGGTGGGAGAAGCCAT	0.507													A	134253009	G	A	134253009	3	1	96	1	0	0	0	0	1	0	0	0	468	1233	43	4	256	4	AKR1B15	7	134253009	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	4213078	134253009	24885654	568	63530											
DGKI	9162	broad.mit.edu	37	chr7	137270054	137270054	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaactgtcccatcttccacTtgacacaggatcttagaaac	5	13	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:137270054T>C	uc003vtt.2	-	14	1465	c.1464A>G	c.(1462-1464)CAA>CAG	p.Q488Q	DGKI_uc003vtu.2_Silent_p.Q188Q	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	488	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						CATCTTCCACTTGACACAGGA	0.473													C	137270054	T	C	137270054	2	2	96	1	0	0	0	0	0	0	0	1	4471	1606	56	3		3	DGKI	7	137270054	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3017045	137270054	21868609	569	63531											
TBXAS1	6916	broad.mit.edu	37	chr7	139572126	139572126	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacttgacatttttccgccAggtaagggctgtcttccatt	8	10	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:139572126A>C	uc011kqv.1	+	2	349	c.185A>C	c.(184-186)CAG>CCG	p.Q62P	TBXAS1_uc003vvh.2_Missense_Mutation_p.Q62P|TBXAS1_uc010lne.2_5'UTR|TBXAS1_uc011kqu.1_Intron|TBXAS1_uc003vvi.2_Missense_Mutation_p.Q62P|TBXAS1_uc003vvj.2_Missense_Mutation_p.Q62P|TBXAS1_uc011kqw.1_Silent_p.P32P|TBXAS1_uc011kqx.1_Missense_Mutation_p.Q62P	NM_001130966	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1, platelet isoform	61	Lumenal (Potential).				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			ovary(2)|breast(1)	3	Melanoma(164;0.0142)					TTTTTCCGCCAGGTAAGGGCT	0.343													C	139572126	A	C	139572126	3	2	96	1	0	0	0	0	1	0	0	0	15661	202	7	5	191	5	TBXAS1	7	139572126	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2302072	139572126	19566537	570	63532											
SSPO	23145	broad.mit.edu	37	chr7	149475868	149475868	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgacctctttctgtgcccAgggctgagcctgcaatggct	12	12	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:149475868A>C	uc010lpk.2	+	7	836	c.836_splice	c.e7-2	p.G279_splice	SSPO_uc010lpl.1_Splice_Site	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor						cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTCTGTGCCCAGGGCTGAGCC	0.622													C	149475868	A	C	149475868	5	2	96	1	0	0	0	0	0	0	1	0	15188	202	7	5	860	5	SSPO	7	149475868	Splice_Site	SNP	A	TCGA-BR-8589-01A-11D-2394-08	9903742	149475868	9662795	571	63533											
GIMAP6	474344	broad.mit.edu	37	chr7	150325584	150325584	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtctccttggggtcttctgTtctttctcccttagacctag	8	12	5	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:150325584T>G	uc003whn.2	-	3	526	c.102A>C	c.(100-102)GAA>GAC	p.E34D	GIMAP6_uc003whm.2_Intron	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	34							GTP binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGTCTTCTGTTCTTTCTCCC	0.522													G	150325584	T	G	150325584	3	3	96	1	0	0	0	0	1	0	0	0	6383	1722	60	5	780	5	GIMAP6	7	150325584	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	849716	150325584	8813079	572	63534											
ACCN3	9311	broad.mit.edu	37	chr7	150749547	150749547	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgaacccaagttccccacctCagcctgggccccaggtaaca	8	18	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr7:150749547C>T	uc003win.2	+	10	1871	c.1503C>T	c.(1501-1503)CTC>CTT	p.L501L	ACCN3_uc003wio.2_Silent_p.L501L|ACCN3_uc003wip.2_Intron|ACCN3_uc003wiq.2_RNA	NM_004769	NP_004760	Q9UHC3	ACCN3_HUMAN	amiloride-sensitive cation channel 3 isoform a	501	Cytoplasmic (Potential).				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCCCCACCTCAGCCTGGGCC	0.632													T	150749547	C	T	150749547	2	4	96	1	0	0	0	0	0	0	0	1	130	813	29	4		4	ACCN3	7	150749547	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	423963	150749547	8389116	573	63535											
AGPAT5	55326	broad.mit.edu	37	chr8	6614805	6614805	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgttgatcttaagtggtTtgactgcaggcatgcttatg	11	6	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:6614805T>G	uc003wqo.2	+	8	1303	c.991T>G	c.(991-993)TTG>GTG	p.L331V	AGPAT5_uc011kwm.1_3'UTR	NM_018361	NP_060831	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	331					phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity				0			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		CTTAAGTGGTTTGACTGCAGG	0.408													G	6614805	T	G	6614805	3	3	96	1	0	0	0	0	1	0	0	0	390	1838	64	5	1021	5	AGPAT5	8	6614805	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08		6614805	139749217	574	63536											
MSR1	4481	broad.mit.edu	37	chr8	16025998	16025998	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggtattctcttggattTtgccattcagattttctatg	8	6	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:16025998T>G	uc003wwz.2	-	4	797	c.599A>C	c.(598-600)AAA>ACA	p.K200T	MSR1_uc010lsu.2_Missense_Mutation_p.K218T|MSR1_uc003wxa.2_Missense_Mutation_p.K200T|MSR1_uc003wxb.2_Missense_Mutation_p.K200T|MSR1_uc011kxz.1_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	200	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)		CTCTTGGATTTTGCCATTCAG	0.413													G	16025998	T	G	16025998	3	3	96	1	0	0	0	0	1	0	0	0	9886	1841	64	5	832	5	MSR1	8	16025998	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	9411193	16025998	130338024	575	63537											
PCM1	5108	broad.mit.edu	37	chr8	17851033	17851033	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagttcacaacaacctgtaAgtgaagtttctaccatccca	6	11	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:17851033A>G	uc003wyi.3	+	29	5154	c.4732A>G	c.(4732-4734)AGT>GGT	p.S1578G	PCM1_uc011kyh.1_Missense_Mutation_p.S1570G|PCM1_uc003wyj.3_Missense_Mutation_p.S1524G|PCM1_uc011kyi.1_Missense_Mutation_p.S377G|PCM1_uc011kyj.1_Missense_Mutation_p.S334G|PCM1_uc003wyk.3_Missense_Mutation_p.S260G|PCM1_uc011kyk.1_Missense_Mutation_p.S194G	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	1578	Interaction with HAP1.				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)		ACAACCTGTAAGTGAAGTTTC	0.333			T	RET|JAK2	papillary thyroid|CML|MPD								G	17851033	A	G	17851033	3	3	96	1	0	0	0	0	1	0	0	0	11584	72	3	3	4838	3	PCM1	8	17851033	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1825035	17851033	128512989	576	63538											
REEP4	80346	broad.mit.edu	37	chr8	21997518	21997518	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtggacaaacttgcggtaAagcaggctggcgcccttggt	16	9	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:21997518A>C	uc003xau.1	-	4	714	c.261T>G	c.(259-261)CTT>CTG	p.L87L	REEP4_uc010ltt.1_Silent_p.L87L|REEP4_uc011kyz.1_Silent_p.L87L	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	87						integral to membrane				skin(1)	1				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		ACTTGCGGTAAAGCAGGCTGG	0.552													C	21997518	A	C	21997518	2	2	96	1	0	0	0	0	0	0	0	1	13207	1	1	5		5	REEP4	8	21997518	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4146485	21997518	124366504	577	63539											
PPP3CC	5533	broad.mit.edu	37	chr8	22380024	22380024	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccctgcagtttgtgaatTtttgcagaacaataatttac	6	7	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:22380024T>G	uc003xbs.2	+	7	1118	c.791T>G	c.(790-792)TTT>TGT	p.F264C	PPP3CC_uc003xbr.1_Missense_Mutation_p.F264C|PPP3CC_uc011kzi.1_Missense_Mutation_p.F264C|PPP3CC_uc003xbt.2_Missense_Mutation_p.F264C|PPP3CC_uc011kzj.1_Translation_Start_Site	NM_005605	NP_005596	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma	264					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		GTTTGTGAATTTTTGCAGAAC	0.328													G	22380024	T	G	22380024	3	3	96	1	0	0	0	0	1	0	0	0	12399	1841	64	5	817	5	PPP3CC	8	22380024	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	382506	22380024	123983998	578	63540											
EBF2	64641	broad.mit.edu	37	chr8	25766067	25766067	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgaggaaaaattttaaaaAgaatctgtgaagagaaagcg	10	3	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:25766067A>C	uc003xes.1	-	7	573	c.556T>G	c.(556-558)TTT>GTT	p.F186V	PPP2R2A_uc003xek.2_Intron	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	186					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AATTTTAAAAAGAATCTGTGA	0.373													C	25766067	A	C	25766067	3	2	96	1	0	0	0	0	1	0	0	0	4881	72	3	5	1211	5	EBF2	8	25766067	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3386043	25766067	120597955	579	63541											
C8orf80	389643	broad.mit.edu	37	chr8	27888776	27888776	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacctcctggatcaggaaaTtttttttgcagctatcatat	7	8	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:27888776T>G	uc003xgm.3	-	15	2035	c.1892A>C	c.(1891-1893)AAT>ACT	p.N631T		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	speckled-like pattern in the germinal center	631						nucleus	GTP binding|GTPase activity			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		GATCAGGAAATTTTTTTTGCA	0.453													G	27888776	T	G	27888776	3	3	96	1	0	0	0	0	1	0	0	0	2439	1493	52	5	518	5	C8orf80	8	27888776	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2122709	27888776	118475246	580	63542											
RBPMS	11030	broad.mit.edu	37	chr8	30336863	30336863	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcagttttgacagtcgctcAgaagcagaggctgcaaagaa	12	8	2	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:30336863A>G	uc003xic.1	+	4	881	c.216A>G	c.(214-216)TCA>TCG	p.S72S	RBPMS_uc003xid.1_Silent_p.S72S|RBPMS_uc003xie.1_Silent_p.S72S|RBPMS_uc003xif.1_RNA|RBPMS_uc011lba.1_Silent_p.S72S|RBPMS_uc003xib.2_Silent_p.S72S|RBPMS_uc010lvh.1_5'UTR	NM_006867	NP_006858	Q93062	RBPMS_HUMAN	RNA-binding protein with multiple splicing	72	RRM.				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		ACAGTCGCTCAGAAGCAGAGG	0.383													G	30336863	A	G	30336863	2	3	96	1	0	0	0	0	0	0	0	1	13163	175	7	3		3	RBPMS	8	30336863	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2448087	30336863	116027159	581	63543											
RNF122	79845	broad.mit.edu	37	chr8	33408905	33408905	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgcctggttccgcagtTtgctgggagaaagagaaaaa	13	7	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:33408905T>G	uc003xjo.1	-	3	587	c.185A>C	c.(184-186)AAA>ACA	p.K62T		NM_024787	NP_079063	Q9H9V4	RN122_HUMAN	ring finger protein 122	62						endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		GTTCCGCAGTTTGCTGGGAGA	0.498													G	33408905	T	G	33408905	3	3	96	1	0	0	0	0	1	0	0	0	13432	1841	64	5	298	5	RNF122	8	33408905	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3072042	33408905	112955117	582	63544											
KCNU1	157855	broad.mit.edu	37	chr8	36763254	36763254	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacatgatgtagaacaagatTctgaccagcttgatagcagt	9	7	1	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:36763254T>C	uc010lvw.2	+	20	2125	c.2038T>C	c.(2038-2040)TCT>CCT	p.S680P	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	680	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGAACAAGATTCTGACCAGCT	0.413													C	36763254	T	C	36763254	3	2	96	1	0	0	0	0	1	0	0	0	8093	1783	62	3	2116	3	KCNU1	8	36763254	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3354349	36763254	109600768	583	63545											
AP3M2	10947	broad.mit.edu	37	chr8	42019931	42019931	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgatgcaattattgataAatcaggtaggtgcttttaat	9	3	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:42019931A>C	uc003xop.2	+	5	869	c.578A>C	c.(577-579)AAA>ACA	p.K193T	AP3M2_uc003xoo.2_Missense_Mutation_p.K193T|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Missense_Mutation_p.K78T|AP3M2_uc003xor.1_Missense_Mutation_p.K193T	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	193	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			ATTATTGATAAATCAGGTAGG	0.373													C	42019931	A	C	42019931	3	2	96	1	0	0	0	0	1	0	0	0	748	14	1	5	588	5	AP3M2	8	42019931	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	5256677	42019931	104344091	584	63546											
PLAT	5327	broad.mit.edu	37	chr8	42050649	42050649	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacctggctgggcgaaacgaAgactgctccacacagcagca	11	13	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:42050649A>G	uc003xos.2	-	2	264	c.55T>C	c.(55-57)TTC>CTC	p.F19L	PLAT_uc010lxf.1_Missense_Mutation_p.F19L|PLAT_uc010lxg.1_Missense_Mutation_p.F19L|PLAT_uc003xot.2_Missense_Mutation_p.F19L|PLAT_uc011lcm.1_Missense_Mutation_p.F19L|PLAT_uc011lcn.1_Missense_Mutation_p.F19L	NM_000930	NP_000921	P00750	TPA_HUMAN	plasminogen activator, tissue isoform 1	19					blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|skin(1)	2	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGCGAAACGAAGACTGCTCCA	0.562													G	42050649	A	G	42050649	3	3	96	1	0	0	0	0	1	0	0	0	12021	72	3	3	1685	3	PLAT	8	42050649	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	30718	42050649	104313373	585	63547											
THAP1	55145	broad.mit.edu	37	chr8	42693377	42693377	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgagagattaacaggggtctGaagaggcggcattagtaatc	14	5	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:42693377G>A	uc003xpk.2	-	3	607	c.370C>T	c.(370-372)CAG>TAG	p.Q124*	THAP1_uc003xpl.2_3'UTR	NM_018105	NP_060575	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated	124					cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding				0	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACAGGGGTCTGAAGAGGCGGC	0.483													A	42693377	G	A	42693377	4	1	96	1	0	0	0	0	0	1	0	0	15838	1299	45	4	275	4	THAP1	8	42693377	Nonsense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	642728	42693377	103670645	586	63548											
PRKDC	5591	broad.mit.edu	37	chr8	48762039	48762039	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaattgtttcgcaaccAgttcacacagagactcctcc	6	14	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:48762039A>G	uc003xqi.2	-	54	7088	c.7031T>C	c.(7030-7032)CTG>CCG	p.L2344P	PRKDC_uc003xqj.2_Missense_Mutation_p.L2344P|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2344					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TTTCGCAACCAGTTCACACAG	0.378								NHEJ					G	48762039	A	G	48762039	3	3	96	1	0	0	0	0	1	0	0	0	12521	188	7	3	5491	3	PRKDC	8	48762039	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	6068662	48762039	97601983	587	63549											
PRKDC	5591	broad.mit.edu	37	chr8	48809800	48809800	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggcctcccacaatgagcTaaaagccacttgaccagatc	9	13	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:48809800T>C	uc003xqi.2	-	30	3576	c.3519A>G	c.(3517-3519)TTA>TTG	p.L1173L	PRKDC_uc003xqj.2_Silent_p.L1173L|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1173					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CACAATGAGCTAAAAGCCACT	0.423								NHEJ					C	48809800	T	C	48809800	2	2	96	1	0	0	0	0	0	0	0	1	12521	1519	53	3		3	PRKDC	8	48809800	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	47761	48809800	97554222	588	63550											
RP1	6101	broad.mit.edu	37	chr8	55542190	55542190	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatgctctttgtggtcaAcattgcccaatactaactgt	7	10	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:55542190A>C	uc003xsd.1	+	4	5896	c.5748A>C	c.(5746-5748)CAA>CAC	p.Q1916H	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1916					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTTGTGGTCAACATTGCCCAA	0.373													C	55542190	A	C	55542190	3	2	96	1	0	0	0	0	1	0	0	0	13532	40	2	5	5758	5	RP1	8	55542190	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	6732390	55542190	90821832	589	63551											
LYN	4067	broad.mit.edu	37	chr8	56879353	56879353	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaagccttcctggaagaAgccaacctcatgaagaccct	9	13	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:56879353A>C	uc003xsk.3	+	9	1152	c.870A>C	c.(868-870)GAA>GAC	p.E290D	LYN_uc003xsl.3_Missense_Mutation_p.E269D	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	290	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TCCTGGAAGAAGCCAACCTCA	0.507													C	56879353	A	C	56879353	3	2	96	1	0	0	0	0	1	0	0	0	9107	69	3	5	900	5	LYN	8	56879353	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1337163	56879353	89484669	590	63552											
ASPH	444	broad.mit.edu	37	chr8	62550538	62550538	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgaatcttctacaggaTtatcctcagggggagcagtt	11	9	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:62550538T>C	uc003xuj.2	-	12	1126	c.857A>G	c.(856-858)AAT>AGT	p.N286S	ASPH_uc011leg.1_Missense_Mutation_p.N257S|ASPH_uc003xuo.2_Missense_Mutation_p.N267S|ASPH_uc011leh.1_Missense_Mutation_p.N252S|ASPH_uc003xul.2_Missense_Mutation_p.N272S|ASPH_uc011lei.1_Missense_Mutation_p.N271S|ASPH_uc011lej.1_Missense_Mutation_p.N229S|ASPH_uc003xun.2_Missense_Mutation_p.N243S|ASPH_uc011lek.1_Missense_Mutation_p.N267S|ASPH_uc003xum.2_Missense_Mutation_p.N286S	NM_004318	NP_004309	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase isoform a	286	Glu-rich.|Lumenal (Potential).				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			ovary(3)	3	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TTCTACAGGATTATCCTCAGG	0.323													C	62550538	T	C	62550538	3	2	96	1	0	0	0	0	1	0	0	0	1053	1493	52	3	1487	3	ASPH	8	62550538	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5671185	62550538	83813484	591	63553											
ARFGEF1	10565	broad.mit.edu	37	chr8	68139716	68139716	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatatgttcaaaaggtcttaAgaaatccttctggaatctga	7	6	4	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:68139716A>T	uc003xxo.1	-	26	4099	c.3709T>A	c.(3709-3711)TTA>ATA	p.L1237I	ARFGEF1_uc003xxl.1_Missense_Mutation_p.L691I|ARFGEF1_uc003xxn.1_Missense_Mutation_p.L220I	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1237					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AAAGGTCTTAAGAAATCCTTC	0.363													T	68139716	A	T	68139716	3	4	96	1	0	0	0	0	1	0	0	0	852	69	3	5	1896	5	ARFGEF1	8	68139716	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	5589178	68139716	78224306	592	63554											
NCOA2	10499	broad.mit.edu	37	chr8	71082536	71082536	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctcttcttggttataccTtagatactgtgtcacattct	6	10	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:71082536T>G	uc003xyn.1	-	6	604	c.442A>C	c.(442-444)AGG>CGG	p.R148R		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	148	PAS.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGGTTATACCTTAGATACTGT	0.423			T	RUNXBP2	AML								G	71082536	T	G	71082536	2	3	96	1	0	0	0	0	0	0	0	1	10229	1608	56	5		5	NCOA2	8	71082536	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2942820	71082536	75281486	593	63555											
EYA1	2138	broad.mit.edu	37	chr8	72267124	72267124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacggctatgcgggctggttAgatcctgcatttccatagac	12	10	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:72267124A>G	uc003xys.3	-	2	304	c.17T>C	c.(16-18)CTA>CCA	p.L6P	EYA1_uc003xyr.3_Missense_Mutation_p.L6P|EYA1_uc003xyt.3_Intron|EYA1_uc010lzf.2_5'UTR|EYA1_uc003xyu.2_Missense_Mutation_p.L6P|EYA1_uc011lfe.1_Missense_Mutation_p.L6P|EYA1_uc003xyv.2_5'UTR	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	6					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CGGGCTGGTTAGATCCTGCAT	0.448													G	72267124	A	G	72267124	3	3	96	1	0	0	0	0	1	0	0	0	5328	420	15	3	1825	3	EYA1	8	72267124	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1184588	72267124	74096898	594	63556											
UBE2W	55284	broad.mit.edu	37	chr8	74742629	74742629	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacttactgtgtaattgaatTttgaacactcttctcattta	4	7	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:74742629T>G	uc003xzv.2	-	2	147	c.94A>C	c.(94-96)AAT>CAT	p.N32H	UBE2W_uc003xzt.2_Missense_Mutation_p.N32H|UBE2W_uc003xzu.2_Missense_Mutation_p.N43H|UBE2W_uc003xzw.2_RNA	NM_018299	NP_060769	Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	32					protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity				0	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			GTAATTGAATTTTGAACACTC	0.303													G	74742629	T	G	74742629	3	3	96	1	0	0	0	0	1	0	0	0	16874	1841	64	5	381	5	UBE2W	8	74742629	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2475505	74742629	71621393	595	63557											
ZFHX4	79776	broad.mit.edu	37	chr8	77617339	77617339	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tataagctttctggaaccaaAaaaatccacttctgtttatc	4	9	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:77617339A>C	uc003yav.2	+	2	1403	c.1016A>C	c.(1015-1017)AAA>ACA	p.K339T	ZFHX4_uc003yat.1_Missense_Mutation_p.K339T|ZFHX4_uc003yau.1_Missense_Mutation_p.K339T|ZFHX4_uc003yaw.1_Missense_Mutation_p.K339T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	339						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTGGAACCAAAAAAATCCACT	0.428										HNSCC(33;0.089)			C	77617339	A	C	77617339	3	2	96	1	0	0	0	0	1	0	0	0	17632	14	1	5	1018	5	ZFHX4	8	77617339	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2874710	77617339	68746683	596	63558											
CNGB3	54714	broad.mit.edu	37	chr8	87656904	87656904	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatgattaaattcaaaaAatgaagtgtactatatagaa	8	2	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:87656904A>C	uc003ydx.2	-	9	1047	c.1001T>G	c.(1000-1002)TTT>TGT	p.F334C	CNGB3_uc010maj.2_Missense_Mutation_p.F196C	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	334	Extracellular (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						AAATTCAAAAAATGAAGTGTA	0.259													C	87656904	A	C	87656904	3	2	96	1	0	0	0	0	1	0	0	0	3601	14	1	5	1468	5	CNGB3	8	87656904	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	10039565	87656904	58707118	597	63559											
GDF6	392255	broad.mit.edu	37	chr8	97172781	97172781	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgctgcatcttgccttccTtgcggcttcgcatgcccttg	9	17	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:97172781T>G	uc003yhp.2	-	1	240	c.140A>C	c.(139-141)AAG>ACG	p.K47T		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	47					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					CTTGCCTTCCTTGCGGCTTCG	0.667													G	97172781	T	G	97172781	3	3	96	1	0	0	0	0	1	0	0	0	6317	1609	56	5	1235	5	GDF6	8	97172781	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	9515877	97172781	49191241	598	63560											
ATP6V1C1	528	broad.mit.edu	37	chr8	104065044	104065044	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagaatttggaacgaaAgaatgcgtaagcagatcaag	10	6	3	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:104065044A>G	uc003ykz.3	+	6	712	c.467A>G	c.(466-468)AAG>AGG	p.K156R	ATP6V1C1_uc010mbz.2_Missense_Mutation_p.K81R|ATP6V1C1_uc003yla.2_Missense_Mutation_p.K156R|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.K81R	NM_001695	NP_001686	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit	156					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism				0	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TTGGAACGAAAGAATGCGTAA	0.368													G	104065044	A	G	104065044	3	3	96	1	0	0	0	0	1	0	0	0	1180	72	3	3	485	3	ATP6V1C1	8	104065044	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	6892263	104065044	42298978	599	63561											
KCNV1	27012	broad.mit.edu	37	chr8	110980514	110980514	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccttgagtttcaaggtgaAgtagcaagcagagaagcgat	12	6	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:110980514A>C	uc003ynr.3	-	3	1648	c.1306T>G	c.(1306-1308)TTC>GTC	p.F436V	KCNV1_uc010mcw.2_Missense_Mutation_p.F436V	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	436	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TTCAAGGTGAAGTAGCAAGCA	0.428													C	110980514	A	C	110980514	3	2	96	1	0	0	0	0	1	0	0	0	8094	72	3	5	200	5	KCNV1	8	110980514	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	6915470	110980514	35383508	600	63562											
ATAD2	29028	broad.mit.edu	37	chr8	124357232	124357232	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtggctttaagtgtcggTccaactatttcccaccacac	7	12	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:124357232T>C	uc003yqh.3	-	19	2718	c.2610A>G	c.(2608-2610)GGA>GGG	p.G870G	ATAD2_uc011lii.1_Silent_p.G661G|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Silent_p.G870G	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	870					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TAAGTGTCGGTCCAACTATTT	0.408													C	124357232	T	C	124357232	2	2	96	1	0	0	0	0	0	0	0	1	1071	1654	58	3		3	ATAD2	8	124357232	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	13376718	124357232	22006790	601	63563											
ADCY8	114	broad.mit.edu	37	chr8	131795960	131795960	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccggagttcaaaattgttgAatgaatgcttgttgatctcc	9	7	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:131795960A>G	uc003ytd.3	-	17	3501	c.3245T>C	c.(3244-3246)TTC>TCC	p.F1082S	ADCY8_uc010mds.2_Missense_Mutation_p.F951S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	1082	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAAATTGTTGAATGAATGCTT	0.517										HNSCC(32;0.087)			G	131795960	A	G	131795960	3	3	96	1	0	0	0	0	1	0	0	0	300	246	9	3	518	3	ADCY8	8	131795960	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	7438728	131795960	14568062	602	63564											
ADCY8	114	broad.mit.edu	37	chr8	131796002	131796002	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatgctttctgtcagggcgAgtgagaagtcagccagagca	14	8	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:131796002A>C	uc003ytd.3	-	17	3459	c.3203T>G	c.(3202-3204)CTC>CGC	p.L1068R	ADCY8_uc010mds.2_Missense_Mutation_p.L937R	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	1068	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGTCAGGGCGAGTGAGAAGTC	0.478										HNSCC(32;0.087)			C	131796002	A	C	131796002	3	2	96	1	0	0	0	0	1	0	0	0	300	304	11	5	560	5	ADCY8	8	131796002	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	42	131796002	14568020	603	63565											
EFR3A	23167	broad.mit.edu	37	chr8	132991146	132991146	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactgcactgccagggtcttTcctggatcctttgttatcac	8	12	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:132991146T>C	uc003yte.2	+	13	1580	c.1379T>C	c.(1378-1380)TTC>TCC	p.F460S		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A	460						plasma membrane	binding			ovary(3)|breast(1)|central_nervous_system(1)	5	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CCAGGGTCTTTCCTGGATCCT	0.423													C	132991146	T	C	132991146	3	2	96	1	0	0	0	0	1	0	0	0	4958	1783	62	3	1429	3	EFR3A	8	132991146	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1195144	132991146	13372876	604	63566											
KCNK9	51305	broad.mit.edu	37	chr8	140631316	140631316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagaaggccttgcccgcatCggtgccaggtgcagcgtgcc	15	14	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:140631316C>T	uc003yvf.1	-	2	374	c.310G>A	c.(310-312)GAT>AAT	p.D104N	KCNK9_uc003yvg.1_Missense_Mutation_p.D104N|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	104	Extracellular (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TTGCCCGCATCGGTGCCAGGT	0.612													T	140631316	C	T	140631316	3	4	96	1	0	0	0	0	1	0	0	0	8072	884	31	1	818	1	KCNK9	8	140631316	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	7640170	140631316	5732706	605	63567											
ZNF251	90987	broad.mit.edu	37	chr8	145947158	145947158	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaactctggctgaaggcTttcccatacacactgcaatg	9	11	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr8:145947158T>G	uc003zdv.3	-	5	2143	c.1887A>C	c.(1885-1887)AAA>AAC	p.K629N		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	629	C2H2-type 14; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GGCTGAAGGCTTTCCCATACA	0.438													G	145947158	T	G	145947158	3	3	96	1	0	0	0	0	1	0	0	0	17793	1606	56	5	132	5	ZNF251	8	145947158	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5315842	145947158	416864	606	63568											
DOCK8	81704	broad.mit.edu	37	chr9	463649	463649	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgagcggaaaattccagaActgtacaagccaatattcag	8	9	1	1	rs145573166	byFrequency	TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:463649A>C	uc003zgf.2	+	47	6313	c.6201A>C	c.(6199-6201)GAA>GAC	p.E2067D	DOCK8_uc010mgu.2_Missense_Mutation_p.E1369D|DOCK8_uc010mgv.2_Missense_Mutation_p.E1967D|DOCK8_uc003zgk.2_Missense_Mutation_p.E1525D	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	2067					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AAATTCCAGAACTGTACAAGC	0.473													C	463649	A	C	463649	3	2	96	1	0	0	0	0	1	0	0	0	4693	40	2	5	6387	5	DOCK8	9	463649	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08		463649	140749782	607	63569											
KIAA0020	9933	broad.mit.edu	37	chr9	2811528	2811528	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgcaggtagcttaacaAagctggagaaatggattcta	10	6	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:2811528A>G	uc003zhp.1	-	15	1564	c.1468T>C	c.(1468-1470)TTG>CTG	p.L490L	KIAA0020_uc010mhc.1_Silent_p.L489L|KIAA0020_uc003zhq.1_Silent_p.L489L	NM_014878	NP_055693	Q15397	K0020_HUMAN	KIAA0020 protein	490	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(50;0.0319)		TAGCTTAACAAAGCTGGAGAA	0.468													G	2811528	A	G	2811528	2	3	96	1	0	0	0	0	0	0	0	1	8152	11	1	3		3	KIAA0020	9	2811528	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2347879	2811528	138401903	608	63570											
SLC1A1	6505	broad.mit.edu	37	chr9	4490700	4490700	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggggaaaccggcgaggaaAggatgcgagtggaagcgctt	18	6	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:4490700A>C	uc003zij.1	+	1	257	c.21A>C	c.(19-21)AAA>AAC	p.K7N		NM_004170	NP_004161	P43005	EAA3_HUMAN	solute carrier family 1, member 1	7	Cytoplasmic (Potential).				D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	CGGCGAGGAAAGGATGCGAGT	0.701													C	4490700	A	C	4490700	3	2	96	1	0	0	0	0	1	0	0	0	14431	69	3	5	23	5	SLC1A1	9	4490700	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1679172	4490700	136722731	609	63571											
CDC37L1	55664	broad.mit.edu	37	chr9	4685004	4685004	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttagcactgcataattctgAgtccttggatcaggagcatg	10	9	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:4685004A>G	uc003zio.2	+	2	470	c.260A>G	c.(259-261)GAG>GGG	p.E87G		NM_017913	NP_060383	Q7L3B6	CD37L_HUMAN	cell division cycle 37 homolog (S.	87	Potential.|Self-association.					cytoplasm					0	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		CATAATTCTGAGTCCTTGGAT	0.458													G	4685004	A	G	4685004	3	3	96	1	0	0	0	0	1	0	0	0	3069	304	11	3	266	3	CDC37L1	9	4685004	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	194304	4685004	136528427	610	63572											
RLN1	6013	broad.mit.edu	37	chr9	5335303	5335303	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccaattaggcaacatttcTcaaacagtgccacgtagggt	8	10	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:5335303T>G	uc003zjb.1	-	2	633	c.506A>C	c.(505-507)GAG>GCG	p.E169A		NM_006911	NP_008842	P04808	REL1_HUMAN	relaxin 1 preproprotein	169					female pregnancy|signal transduction	extracellular region	hormone activity				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		GCAACATTTCTCAAACAGTGC	0.393													G	5335303	T	G	5335303	3	3	96	1	0	0	0	0	1	0	0	0	13391	1551	54	5	55	5	RLN1	9	5335303	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	650299	5335303	135878128	611	63573											
KIAA1432	57589	broad.mit.edu	37	chr9	5747306	5747306	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttccctcatttagagtaAccaagagcaggtgttgcttc	8	10	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:5747306A>C	uc003zji.2	+	11	1109	c.1016A>C	c.(1015-1017)AAC>ACC	p.N339T	KIAA1432_uc003zjh.2_Missense_Mutation_p.N339T|KIAA1432_uc003zjl.3_Missense_Mutation_p.N339T|KIAA1432_uc003zjj.1_5'UTR	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN	connexin 43-interacting protein 150 isoform a	418						integral to membrane					0		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ATTTAGAGTAACCAAGAGCAG	0.418													C	5747306	A	C	5747306	3	2	96	1	0	0	0	0	1	0	0	0	8233	43	2	5	1058	5	KIAA1432	9	5747306	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	412003	5747306	135466125	612	63574											
KIAA1432	57589	broad.mit.edu	37	chr9	5763220	5763220	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagcaaataaacagaaacgTcaccttctggaggccctctg	9	12	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:5763220T>G	uc003zji.2	+	18	2049	c.1956T>G	c.(1954-1956)CGT>CGG	p.R652R	KIAA1432_uc003zjh.2_Silent_p.R652R|KIAA1432_uc003zjl.3_Silent_p.R615R|KIAA1432_uc003zjj.1_Silent_p.R194R	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN	connexin 43-interacting protein 150 isoform a	731						integral to membrane					0		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AACAGAAACGTCACCTTCTGG	0.522													G	5763220	T	G	5763220	2	3	96	1	0	0	0	0	0	0	0	1	8233	1654	58	5		5	KIAA1432	9	5763220	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	15914	5763220	135450211	613	63575											
PTPRD	5789	broad.mit.edu	37	chr9	8338943	8338943	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcatctgtgaccttgaaTtcccttaggatatactgtgg	10	9	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:8338943T>G	uc003zkk.2	-	42	6069	c.5358A>C	c.(5356-5358)GAA>GAC	p.E1786D	PTPRD_uc003zkp.2_Missense_Mutation_p.E1380D|PTPRD_uc003zkq.2_Missense_Mutation_p.E1379D|PTPRD_uc003zkr.2_Missense_Mutation_p.E1370D|PTPRD_uc003zks.2_Missense_Mutation_p.E1379D|PTPRD_uc003zkl.2_Missense_Mutation_p.E1777D|PTPRD_uc003zkm.2_Missense_Mutation_p.E1773D|PTPRD_uc003zkn.2_Missense_Mutation_p.E1375D|PTPRD_uc003zko.2_Missense_Mutation_p.E1376D	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1786	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGACCTTGAATTCCCTTAGGA	0.453										TSP Lung(15;0.13)			G	8338943	T	G	8338943	3	3	96	1	0	0	0	0	1	0	0	0	12799	1490	52	5	396	5	PTPRD	9	8338943	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2575723	8338943	132874488	614	63576											
PTPRD	5789	broad.mit.edu	37	chr9	8636748	8636748	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttttgttccagacaattTtaggtcttgggtctcccgta	8	9	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:8636748T>G	uc003zkk.2	-	12	872	c.161A>C	c.(160-162)AAA>ACA	p.K54T	PTPRD_uc003zkp.2_Missense_Mutation_p.K54T|PTPRD_uc003zkq.2_Missense_Mutation_p.K54T|PTPRD_uc003zkr.2_Missense_Mutation_p.K54T|PTPRD_uc003zks.2_Missense_Mutation_p.K54T|PTPRD_uc003zkl.2_Missense_Mutation_p.K54T|PTPRD_uc003zkm.2_Missense_Mutation_p.K54T|PTPRD_uc003zkn.2_Missense_Mutation_p.K54T|PTPRD_uc003zko.2_Missense_Mutation_p.K54T|PTPRD_uc003zkt.1_Missense_Mutation_p.K54T	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	54	Ig-like C2-type 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCAGACAATTTTAGGTCTTGG	0.468										TSP Lung(15;0.13)			G	8636748	T	G	8636748	3	3	96	1	0	0	0	0	1	0	0	0	12799	1841	64	5	5781	5	PTPRD	9	8636748	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	297805	8636748	132576683	615	63577											
BNC2	54796	broad.mit.edu	37	chr9	16436973	16436973	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcactgactggggcagaatTctgaatgggagagacacagg	14	7	2	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:16436973T>C	uc003zml.2	-	6	1359	c.1219A>G	c.(1219-1221)AAT>GAT	p.N407D	BNC2_uc011lmw.1_Missense_Mutation_p.N312D|BNC2_uc003zmm.2_Missense_Mutation_p.N365D|BNC2_uc003zmq.1_Missense_Mutation_p.N421D|BNC2_uc003zmr.1_Missense_Mutation_p.N444D|BNC2_uc003zmp.1_Missense_Mutation_p.N435D|BNC2_uc010mij.1_Missense_Mutation_p.N329D|BNC2_uc011lmv.1_Missense_Mutation_p.N233D|BNC2_uc003zmo.1_Missense_Mutation_p.N329D|BNC2_uc003zmj.2_Missense_Mutation_p.N172D|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.N172D|BNC2_uc003zmn.1_Missense_Mutation_p.N172D	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		GGGGCAGAATTCTGAATGGGA	0.473													C	16436973	T	C	16436973	3	2	96	1	0	0	0	0	1	0	0	0	1475	1783	62	3	2088	3	BNC2	9	16436973	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	7800225	16436973	124776458	616	63578											
BNC2	54796	broad.mit.edu	37	chr9	16738377	16738377	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcaatttgagatgtatcaAccccacaacatgggaccttg	7	12	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:16738377A>C	uc003zml.2	-	2	250	c.110T>G	c.(109-111)GTT>GGT	p.V37G	BNC2_uc011lmw.1_Intron|BNC2_uc003zmm.2_Intron|BNC2_uc003zmq.1_Missense_Mutation_p.V51G|BNC2_uc003zmr.1_Missense_Mutation_p.V37G|BNC2_uc003zmp.1_Missense_Mutation_p.V37G|BNC2_uc010mij.1_Intron|BNC2_uc003zmu.1_RNA|BNC2_uc010mim.1_Intron|BNC2_uc010min.1_Intron	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		AGATGTATCAACCCCACAACA	0.423													C	16738377	A	C	16738377	3	2	96	1	0	0	0	0	1	0	0	0	1475	43	2	5	3213	5	BNC2	9	16738377	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	301404	16738377	124475054	617	63579											
PLIN2	123	broad.mit.edu	37	chr9	19120914	19120914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagggaggtactgttctaCcaacagctctgatttggtga	13	7	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:19120914C>T	uc003zno.2	-	5	738	c.559G>A	c.(559-561)GTA>ATA	p.V187I	PLIN2_uc011lna.1_Missense_Mutation_p.V159I|PLIN2_uc011lnb.1_Intron	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	adipose differentiation-related protein	187					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				ovary(2)	2						TACTGTTCTACCAACAGCTCT	0.428													T	19120914	C	T	19120914	3	4	96	1	0	0	0	0	1	0	0	0	12090	507	18	4	770	4	PLIN2	9	19120914	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	2382537	19120914	122092517	618	63580											
KIAA1797	54914	broad.mit.edu	37	chr9	20995574	20995574	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaccctgctgtccttgagAgttctcccagagtttaagaa	9	12	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:20995574A>G	uc003zog.1	+	46	5715	c.5352A>G	c.(5350-5352)AGA>AGG	p.R1784R	KIAA1797_uc003zoh.1_Silent_p.R1220R	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	1784						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		TGTCCTTGAGAGTTCTCCCAG	0.423													G	20995574	A	G	20995574	2	3	96	1	0	0	0	0	0	0	0	1	8258	301	11	3		3	KIAA1797	9	20995574	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1874660	20995574	120217857	619	63581											
KIAA1797	54914	broad.mit.edu	37	chr9	20995592	20995592	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agagttctcccagagtttaaGaagaaagctgtatggaccag	11	7	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:20995592G>T	uc003zog.1	+	46	5733	c.5370G>T	c.(5368-5370)AAG>AAT	p.K1790N	KIAA1797_uc003zoh.1_Missense_Mutation_p.K1226N	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	1790						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		CAGAGTTTAAGAAGAAAGCTG	0.428													T	20995592	G	T	20995592	3	4	96	1	0	0	0	0	1	0	0	0	8258	933	33	5	5540	5	KIAA1797	9	20995592	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	18	20995592	120217839	620	63582											
IFNW1	3467	broad.mit.edu	37	chr9	21141068	21141068	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatttcatgatttccattcTgacaacttcccaggcacagt	7	11	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:21141068T>C	uc003zol.1	-	1	1077	c.502A>G	c.(502-504)AGA>GGA	p.R168G		NM_002177	NP_002168	P05000	IFNW1_HUMAN	interferon, omega 1 precursor	168					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding				0				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATTTCCATTCTGACAACTTCC	0.438													C	21141068	T	C	21141068	3	2	96	1	0	0	0	0	1	0	0	0	7552	1588	55	3	89	3	IFNW1	9	21141068	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	145476	21141068	120072363	621	63583											
NDUFB6	4712	broad.mit.edu	37	chr9	32558948	32558948	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcaactatgccatatggtTtttcctgtaataaaagttaa	5	6	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:32558948T>G	uc003zre.1	-	3	402	c.278A>C	c.(277-279)AAA>ACA	p.K93T	NDUFB6_uc003zrf.1_Intron	NM_002493	NP_002484	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	93					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)	NADH(DB00157)	GCCATATGGTTTTTCCTGTAA	0.214													G	32558948	T	G	32558948	3	3	96	1	0	0	0	0	1	0	0	0	10285	1841	64	5	116	5	NDUFB6	9	32558948	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	11417880	32558948	108654483	622	63584											
AQP3	360	broad.mit.edu	37	chr9	33443820	33443820	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaagccaaaggccaggTtgatggtgaggaaaccaccg	13	10	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:33443820T>G	uc003zsx.2	-	2	241	c.179A>C	c.(178-180)AAC>ACC	p.N60T	SUGT1P1_uc010mjq.1_Intron|AQP3_uc003zsv.1_Missense_Mutation_p.N60T|AQP3_uc003zsw.2_5'Flank|AQP3_uc010mju.2_Missense_Mutation_p.N60T	NM_004925	NP_004916	Q92482	AQP3_HUMAN	aquaporin 3	60	Helical; (Potential).				excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity				0			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		AAAGGCCAGGTTGATGGTGAG	0.602													G	33443820	T	G	33443820	3	3	96	1	0	0	0	0	1	0	0	0	827	1725	60	5	719	5	AQP3	9	33443820	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	884872	33443820	107769611	623	63585											
UBAP2	55833	broad.mit.edu	37	chr9	33953371	33953371	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgcgaatttgtgaagacaAgggcttggccaaagccctgc	13	9	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:33953371A>G	uc003ztq.1	-	12	1081	c.968T>C	c.(967-969)CTT>CCT	p.L323P	UBAP2_uc011loc.1_Missense_Mutation_p.L232P|UBAP2_uc011lod.1_Missense_Mutation_p.L56P|UBAP2_uc011loe.1_Missense_Mutation_p.L78P|UBAP2_uc011lof.1_Missense_Mutation_p.L248P|UBAP2_uc011log.1_Missense_Mutation_p.L269P|UBAP2_uc003ztr.2_Missense_Mutation_p.L195P|SNORD121A_uc010mjz.2_5'Flank	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	323										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TGTGAAGACAAGGGCTTGGCC	0.517													G	33953371	A	G	33953371	3	3	96	1	0	0	0	0	1	0	0	0	16834	72	3	3	2463	3	UBAP2	9	33953371	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	509551	33953371	107260060	624	63586											
DNAI1	27019	broad.mit.edu	37	chr9	34491532	34491532	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctcctcccaggacaaacTtttcagccacagccaatcag	6	16	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:34491532T>G	uc003zum.2	+	8	854	c.661T>G	c.(661-663)TTT>GTT	p.F221V		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	221					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity				0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CAGGACAAACTTTTCAGCCAC	0.493									Kartagener_syndrome				G	34491532	T	G	34491532	3	3	96	1	0	0	0	0	1	0	0	0	4609	1609	56	5	691	5	DNAI1	9	34491532	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	538161	34491532	106721899	625	63587											
FBXO10	26267	broad.mit.edu	37	chr9	37518122	37518122	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacatgcagacatactcacTttagtgtcggacctgggcag	10	11	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:37518122T>C	uc004aab.2	-	9	2563	c.2514A>G	c.(2512-2514)AAA>AAG	p.K838K	FBXO10_uc004aac.2_Silent_p.K854K|FBXO10_uc004aad.2_Silent_p.K388K	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	F-box protein 10	838	PbH1 17.					ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)		ACATACTCACTTTAGTGTCGG	0.557													C	37518122	T	C	37518122	2	2	96	1	0	0	0	0	0	0	0	1	5726	1623	56	3		3	FBXO10	9	37518122	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3026590	37518122	103695309	626	63588											
MCART1	92014	broad.mit.edu	37	chr9	37888453	37888453	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagccacacaagtaatgcTtcatctcaccaacatttgta	5	12	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:37888453T>G	uc004aau.2	-	3	839	c.95A>C	c.(94-96)AAG>ACG	p.K32T	MCART1_uc004aar.1_Intron|MCART1_uc004aaq.1_Intron|uc004aat.1_5'Flank|MCART1_uc004aav.2_Missense_Mutation_p.K32T	NM_033412	NP_219480	Q9H1U9	MCAR1_HUMAN	mitochondrial carrier triple repeat 1	32	Solcar 1.				transport	integral to membrane|mitochondrial inner membrane				ovary(2)|breast(1)	3				GBM - Glioblastoma multiforme(29;0.00559)|Lung(182;0.0422)		CAAGTAATGCTTCATCTCACC	0.418													G	37888453	T	G	37888453	3	3	96	1	0	0	0	0	1	0	0	0	9369	1609	56	5	802	5	MCART1	9	37888453	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	370331	37888453	103324978	627	63589											
FAM189A2	9413	broad.mit.edu	37	chr9	71992295	71992295	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccttgccccagaaagtcctcTttgccctgtgtgccttgaat	8	14	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:71992295T>A	uc010mon.1	+	5	366	c.262T>A	c.(262-264)TTT>ATT	p.F88I	FAM189A2_uc004ahg.2_Missense_Mutation_p.F88I|FAM189A2_uc010moo.1_5'UTR	NM_001127608	NP_001121080	Q15884	F1892_HUMAN	chromosome 9 open reading frame 61 precursor	88	Helical; (Potential).					integral to membrane					0						GAAAGTCCTCTTTGCCCTGTG	0.453													A	71992295	T	A	71992295	3	1	96	1	0	0	0	0	1	0	0	0	5516	1609	56	5	276	5	FAM189A2	9	71992295	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	34103842	71992295	69221136	628	63590											
PCSK5	5125	broad.mit.edu	37	chr9	78772059	78772059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcacgtgtgtgtggagAgcacagaccgacaaatcaag	14	9	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:78772059A>G	uc004ajz.2	+	11	1949	c.1411A>G	c.(1411-1413)AGC>GGC	p.S471G	PCSK5_uc004ajy.2_Missense_Mutation_p.S471G|PCSK5_uc004aka.2_RNA	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	471	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3						GTGTGTGGAGAGCACAGACCG	0.517													G	78772059	A	G	78772059	3	3	96	1	0	0	0	0	1	0	0	0	11603	304	11	3	1453	3	PCSK5	9	78772059	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	6779764	78772059	62441372	629	63591											
VPS13A	23230	broad.mit.edu	37	chr9	79936645	79936645	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccagcctaagcagcaaacTcttcttcattcttcttagta	5	12	5	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:79936645T>C	uc004akr.2	+	44	6073	c.5813T>C	c.(5812-5814)CTC>CCC	p.L1938P	VPS13A_uc004akp.3_Missense_Mutation_p.L1938P|VPS13A_uc004akq.3_Missense_Mutation_p.L1938P|VPS13A_uc004aks.2_Missense_Mutation_p.L1899P|VPS13A_uc004akt.2_Missense_Mutation_p.L278P	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	1938					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						AGCAGCAAACTCTTCTTCATT	0.303													C	79936645	T	C	79936645	3	2	96	1	0	0	0	0	1	0	0	0	17186	1551	54	3	5987	3	VPS13A	9	79936645	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1164586	79936645	61276786	630	63592											
VPS13A	23230	broad.mit.edu	37	chr9	79954519	79954519	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagccaggctacatttaAaattacttgactatctcaat	5	8	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:79954519A>C	uc004akr.2	+	48	6726	c.6466A>C	c.(6466-6468)AAA>CAA	p.K2156Q	VPS13A_uc004akp.3_Missense_Mutation_p.K2156Q|VPS13A_uc004akq.3_Missense_Mutation_p.K2156Q|VPS13A_uc004aks.2_Missense_Mutation_p.K2117Q	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2156					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						GCTACATTTAAAATTACTTGA	0.338													C	79954519	A	C	79954519	3	2	96	1	0	0	0	0	1	0	0	0	17186	15	1	5	6656	5	VPS13A	9	79954519	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	17874	79954519	61258912	631	63593											
TLE4	7091	broad.mit.edu	37	chr9	82336771	82336771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggacctgcgcgaggggCggcagctgcagcagcacgac	17	14	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:82336771C>T	uc004ald.2	+	18	2878	c.2029C>T	c.(2029-2031)CGG>TGG	p.R677W	TLE4_uc004alc.2_Missense_Mutation_p.R652W|TLE4_uc010mpr.2_Missense_Mutation_p.R531W|TLE4_uc004ale.2_Missense_Mutation_p.R289W|TLE4_uc011lsq.1_Missense_Mutation_p.R620W|TLE4_uc010mps.2_Missense_Mutation_p.R576W|TLE4_uc004alf.2_Missense_Mutation_p.R591W	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						GCGCGAGGGGCGGCAGCTGCA	0.468													T	82336771	C	T	82336771	3	4	96	1	0	0	0	0	1	0	0	0	15938	759	27	1	2020	1	TLE4	9	82336771	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	2382252	82336771	58876660	632	63594											
TLE1	7088	broad.mit.edu	37	chr9	84230907	84230907	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttacctaccaagctcattTctttggatttcaaagaagtg	6	9	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:84230907T>C	uc004aly.2	-	11	1349	c.908A>G	c.(907-909)GAA>GGA	p.E303G	TLE1_uc004alz.2_Missense_Mutation_p.E313G|TLE1_uc011lsr.1_Missense_Mutation_p.E303G|TLE1_uc004ama.1_Missense_Mutation_p.E303G|TLE1_uc011lss.1_Missense_Mutation_p.E229G	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	303	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2						CAAGCTCATTTCTTTGGATTT	0.443													C	84230907	T	C	84230907	3	2	96	1	0	0	0	0	1	0	0	0	15935	1783	62	3	1444	3	TLE1	9	84230907	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1894136	84230907	56982524	633	63595											
NFIL3	4783	broad.mit.edu	37	chr9	94172426	94172426	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagagctctcctgcgtgtgTtctactgaggacacttctga	10	11	3	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:94172426T>G	uc004arh.2	-	2	986	c.591A>C	c.(589-591)GAA>GAC	p.E197D		NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	197	Ser-rich.				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						CCTGCGTGTGTTCTACTGAGG	0.478													G	94172426	T	G	94172426	3	3	96	1	0	0	0	0	1	0	0	0	10373	1722	60	5	801	5	NFIL3	9	94172426	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	9941519	94172426	47041005	634	63596											
PTCH1	5727	broad.mit.edu	37	chr9	98231052	98231052	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcttttggtttcaagAggaaaggagcatagtgcttc	12	7	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:98231052A>G	uc004avk.3	-	14	2419	c.2231T>C	c.(2230-2232)CTC>CCC	p.L744P	PTCH1_uc010mro.2_Missense_Mutation_p.L593P|PTCH1_uc010mrp.2_Missense_Mutation_p.L593P|PTCH1_uc010mrq.2_Missense_Mutation_p.L593P|PTCH1_uc004avl.3_Missense_Mutation_p.L593P|PTCH1_uc010mrr.2_Missense_Mutation_p.L678P|PTCH1_uc004avm.3_Missense_Mutation_p.L743P|PTCH1_uc010mrs.1_Missense_Mutation_p.L412P	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	744	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TGGTTTCAAGAGGAAAGGAGC	0.473									Basal_Cell_Nevus_syndrome				G	98231052	A	G	98231052	3	3	96	1	0	0	0	0	1	0	0	0	12730	304	11	3	2152	3	PTCH1	9	98231052	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4058626	98231052	42982379	635	63597											
PTCH1	5727	broad.mit.edu	37	chr9	98244295	98244295	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtccaaaggtgtaataaTcaaacaagggtaaagatatt	9	5	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:98244295T>G	uc004avk.3	-	5	870	c.682A>C	c.(682-684)ATT>CTT	p.I228L	PTCH1_uc010mro.2_Missense_Mutation_p.I77L|PTCH1_uc010mrp.2_Missense_Mutation_p.I77L|PTCH1_uc010mrq.2_Missense_Mutation_p.I77L|PTCH1_uc004avl.3_Missense_Mutation_p.I77L|PTCH1_uc010mrr.2_Missense_Mutation_p.I162L|PTCH1_uc004avm.3_Missense_Mutation_p.I227L|PTCH1_uc010mrs.1_5'Flank|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_Intron|PTCH1_uc004avo.2_Missense_Mutation_p.I162L|PTCH1_uc010mrv.1_RNA	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	228	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGTGTAATAATCAAACAAGGG	0.418									Basal_Cell_Nevus_syndrome				G	98244295	T	G	98244295	3	3	96	1	0	0	0	0	1	0	0	0	12730	1435	50	5	3737	5	PTCH1	9	98244295	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	13243	98244295	42969136	636	63598											
CTSL2	1515	broad.mit.edu	37	chr9	99797109	99797109	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtttttgctgctgcagtcTggttcaaaataaatgcctgg	11	7	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:99797109T>C	uc004awt.2	-	7	1001	c.804A>G	c.(802-804)CCA>CCG	p.P268P	CTSL2_uc010msi.2_Silent_p.P268P|CTSL2_uc004awu.2_Silent_p.P213P|CTSL2_uc010msj.1_Silent_p.P213P	NM_001333	NP_001324	O60911	CATL2_HUMAN	cathepsin L2 preproprotein	268						lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(62;0.0559)				TGCTGCAGTCTGGTTCAAAAT	0.473													C	99797109	T	C	99797109	2	2	96	1	0	0	0	0	0	0	0	1	4039	1567	55	3		3	CTSL2	9	99797109	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1552814	99797109	41416322	637	63599											
FOXE1	2304	broad.mit.edu	37	chr9	100617166	100617166	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggagaccacggtggacTtctacgggcgcacgtcgccc	15	14	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:100617166T>G	uc004axu.2	+	1	1630	c.970T>G	c.(970-972)TTC>GTC	p.F324V		NM_004473	NP_004464	O00358	FOXE1_HUMAN	forkhead box E1	324					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		Acute lymphoblastic leukemia(62;0.158)				CACGGTGGACTTCTACGGGCG	0.741													G	100617166	T	G	100617166	3	3	96	1	0	0	0	0	1	0	0	0	6003	1609	56	5	972	5	FOXE1	9	100617166	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	820057	100617166	40596265	638	63600											
COL15A1	1306	broad.mit.edu	37	chr9	101810103	101810103	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggacataaaggagaattTggccttcccgggcgacctgt	12	11	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:101810103T>C	uc004azb.1	+	27	2921	c.2715T>C	c.(2713-2715)TTT>TTC	p.F905F		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	905	Triple-helical region 5 (COL5).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				AAGGAGAATTTGGCCTTCCCG	0.537													C	101810103	T	C	101810103	2	2	96	1	0	0	0	0	0	0	0	1	3672	1809	63	3		3	COL15A1	9	101810103	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1192937	101810103	39403328	639	63601											
OR13C3	138803	broad.mit.edu	37	chr9	107298596	107298596	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatacatacgccaccttgcTcaggatgatggggtatctca	9	11	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:107298596T>C	uc004bcb.1	-	1	499	c.499A>G	c.(499-501)AGC>GGC	p.S167G		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C,	167	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1						GCCACCTTGCTCAGGATGATG	0.488													C	107298596	T	C	107298596	3	2	96	1	0	0	0	0	1	0	0	0	10935	1551	54	3	548	3	OR13C3	9	107298596	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5488493	107298596	33914835	640	63602											
SVEP1	79987	broad.mit.edu	37	chr9	113220835	113220835	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgccgctgagaaagttgaActaaaacctaatcaattaat	6	8	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:113220835A>C	uc010mtz.2	-	20	3829	c.3492T>G	c.(3490-3492)AGT>AGG	p.S1164R	SVEP1_uc010mua.1_Missense_Mutation_p.S1164R	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1164					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						AGAAAGTTGAACTAAAACCTA	0.408													C	113220835	A	C	113220835	3	2	96	1	0	0	0	0	1	0	0	0	15417	40	2	5	7339	5	SVEP1	9	113220835	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	5922239	113220835	27992596	641	63603											
ZNF883	169834	broad.mit.edu	37	chr9	115759766	115759766	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagggcttctctccagtatgAgttctctggtgttcagtaag	11	8	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:115759766A>C	uc011lwy.1	-	5	2013	c.774T>G	c.(772-774)ACT>ACG	p.T258T		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	hypothetical protein LOC169834	258	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTCCAGTATGAGTTCTCTGGT	0.388													C	115759766	A	C	115759766	2	2	96	1	0	0	0	0	0	0	0	1	18195	291	11	5		5	ZNF883	9	115759766	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2538931	115759766	25453665	642	63604											
ZFP37	7539	broad.mit.edu	37	chr9	115806455	115806455	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagtcactgccattcttcTtagcttgagttttcttcttg	6	11	5	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:115806455T>G	uc004bgm.1	-	4	471	c.443A>C	c.(442-444)AAG>ACG	p.K148T	ZFP37_uc011lwz.1_Missense_Mutation_p.K163T|ZFP37_uc011lxa.1_Missense_Mutation_p.K149T	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	148						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						GCCATTCTTCTTAGCTTGAGT	0.358													G	115806455	T	G	115806455	3	3	96	1	0	0	0	0	1	0	0	0	17645	1609	56	5	1453	5	ZFP37	9	115806455	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	46689	115806455	25406976	643	63605											
PAPPA	5069	broad.mit.edu	37	chr9	119115949	119115949	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatggcagctggcaggagggAgcttgtgttcctgtgacctg	17	8	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:119115949A>C	uc004bjn.2	+	17	4605	c.4224A>C	c.(4222-4224)GGA>GGC	p.G1408G	PAPPA_uc011lxq.1_Silent_p.G783G	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1408	Sushi 3.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						GGCAGGAGGGAGCTTGTGTTC	0.507													C	119115949	A	C	119115949	2	2	96	1	0	0	0	0	0	0	0	1	11432	291	11	5		5	PAPPA	9	119115949	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3309494	119115949	22097482	644	63606											
GSN	2934	broad.mit.edu	37	chr9	124079367	124079367	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcgtcccctcaggtcTccaatggtgcagggaccatg	11	14	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:124079367T>C	uc004blf.1	+	7	971	c.910T>C	c.(910-912)TCC>CCC	p.S304P	GSN_uc004bld.1_Missense_Mutation_p.S253P|GSN_uc010mvq.1_Missense_Mutation_p.S264P|GSN_uc010mvr.1_Missense_Mutation_p.S264P|GSN_uc010mvu.1_Missense_Mutation_p.S253P|GSN_uc010mvt.1_Missense_Mutation_p.S253P|GSN_uc010mvs.1_Missense_Mutation_p.S253P|GSN_uc004ble.1_Missense_Mutation_p.S253P|GSN_uc010mvv.1_Missense_Mutation_p.S253P|GSN_uc011lyh.1_Missense_Mutation_p.S270P|GSN_uc011lyi.1_Missense_Mutation_p.S253P|GSN_uc011lyj.1_Missense_Mutation_p.S277P|GSN_uc004blg.1_Missense_Mutation_p.S35P	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	304					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3						CCCTCAGGTCTCCAATGGTGC	0.622													C	124079367	T	C	124079367	3	2	96	1	0	0	0	0	1	0	0	0	6825	1551	54	3	964	3	GSN	9	124079367	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4963418	124079367	17134064	645	63607											
NUP214	8021	broad.mit.edu	37	chr9	134016018	134016018	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccattttatatgattaaTcaaaatcctggggttaagtc	7	6	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:134016018T>G	uc004cag.2	+	11	1326	c.1215T>G	c.(1213-1215)AAT>AAG	p.N405K	NUP214_uc004cah.2_Missense_Mutation_p.N405K|NUP214_uc004caf.1_Missense_Mutation_p.N405K	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	405					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		ATATGATTAATCAAAATCCTG	0.418			T	DEK|SET|ABL1	AML|T-ALL								G	134016018	T	G	134016018	3	3	96	1	0	0	0	0	1	0	0	0	10762	1432	50	5	1257	5	NUP214	9	134016018	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	9936651	134016018	7197413	646	63608											
NUP214	8021	broad.mit.edu	37	chr9	134038401	134038401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcttgtgccagagcgagAgacactgtttaacaccctag	10	12	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:134038401A>G	uc004cag.2	+	19	2675	c.2564A>G	c.(2563-2565)GAG>GGG	p.E855G	NUP214_uc004cah.2_Missense_Mutation_p.E845G|NUP214_uc004cai.2_Missense_Mutation_p.E285G|NUP214_uc004caf.1_Missense_Mutation_p.E844G|NUP214_uc010mzf.2_Missense_Mutation_p.E153G	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	855	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCAGAGCGAGAGACACTGTTT	0.438			T	DEK|SET|ABL1	AML|T-ALL								G	134038401	A	G	134038401	3	3	96	1	0	0	0	0	1	0	0	0	10762	304	11	3	2638	3	NUP214	9	134038401	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	22383	134038401	7175030	647	63609											
TTF1	7270	broad.mit.edu	37	chr9	135266034	135266034	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttgcactttagcttctacTtctacccaagatatgccctt	5	12	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:135266034T>G	uc004cbl.2	-	7	2224	c.2172A>C	c.(2170-2172)GAA>GAC	p.E724D	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Missense_Mutation_p.E209D	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	724	Myb-like 2.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TAGCTTCTACTTCTACCCAAG	0.428													G	135266034	T	G	135266034	3	3	96	1	0	0	0	0	1	0	0	0	16715	1606	56	5	565	5	TTF1	9	135266034	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1227633	135266034	5947397	648	63610											
GFI1B	8328	broad.mit.edu	37	chr9	135865169	135865169	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgtgcggcaaggccttcaAgcgctcgtccacgctgtcca	11	15	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:135865169A>G	uc004ccg.2	+	6	840	c.689A>G	c.(688-690)AAG>AGG	p.K230R	GFI1B_uc010mzy.2_Missense_Mutation_p.K184R	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription	230	Mediates interaction with GATA1.|C2H2-type 3.|Interaction with ARIH2.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		AAGGCCTTCAAGCGCTCGTCC	0.667													G	135865169	A	G	135865169	3	3	96	1	0	0	0	0	1	0	0	0	6340	72	3	3	707	3	GFI1B	9	135865169	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	599135	135865169	5348262	649	63611											
BRD3	8019	broad.mit.edu	37	chr9	136906979	136906979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgctacggctgctctcaGcgcccttgctcaccatgggg	11	16	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:136906979G>A	uc004cew.2	-	8	1498	c.1310C>T	c.(1309-1311)GCT>GTT	p.A437V	BRD3_uc004cex.2_Missense_Mutation_p.A437V	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	437						nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GCTGCTCTCAGCGCCCTTGCT	0.677			T	NUT|C15orf55	lethal midline carcinoma of young people								A	136906979	G	A	136906979	3	1	96	1	0	0	0	0	1	0	0	0	1503	971	34	2	890	2	BRD3	9	136906979	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	1041810	136906979	4306452	650	63612											
PNPLA7	375775	broad.mit.edu	37	chr9	140441763	140441763	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cggaaccaagatactcacgaAattgtctaagccttctgaac	7	11	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr9:140441763A>C	uc004cnf.2	-	2	453	c.116T>G	c.(115-117)TTT>TGT	p.F39C	PNPLA7_uc010ncj.1_Missense_Mutation_p.F64C	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	39					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		ATACTCACGAAATTGTCTAAG	0.587													C	140441763	A	C	140441763	3	2	96	1	0	0	0	0	1	0	0	0	12170	14	1	5	3969	5	PNPLA7	9	140441763	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3534784	140441763	771668	651	63613											
FBXO18	84893	broad.mit.edu	37	chr10	5957404	5957404	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctggtcaagtatgcagagAagtggtctcagagcaggttt	14	7	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:5957404A>C	uc001iis.2	+	9	1530	c.1435A>C	c.(1435-1437)AAG>CAG	p.K479Q	FBXO18_uc001iir.2_Missense_Mutation_p.K405Q|FBXO18_uc009xig.2_Missense_Mutation_p.K405Q|FBXO18_uc001iit.2_Missense_Mutation_p.K530Q	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	479					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						GTATGCAGAGAAGTGGTCTCA	0.547													C	5957404	A	C	5957404	3	2	96	1	0	0	0	0	1	0	0	0	5731	247	9	5	1631	5	FBXO18	10	5957404	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08		5957404	129577343	652	63614											
PRKCQ	5588	broad.mit.edu	37	chr10	6540451	6540451	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtggacctttgcctgcTtgatggcaccccggcgctga	14	13	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:6540451T>C	uc001ijj.1	-	5	524	c.449A>G	c.(448-450)AAG>AGG	p.K150R	PRKCQ_uc009xim.1_Missense_Mutation_p.K150R|PRKCQ_uc001iji.1_Missense_Mutation_p.K183R|PRKCQ_uc009xin.1_Missense_Mutation_p.K114R|PRKCQ_uc010qax.1_Missense_Mutation_p.K25R	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	150					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						CTTTGCCTGCTTGATGGCACC	0.517													C	6540451	T	C	6540451	3	2	96	1	0	0	0	0	1	0	0	0	12515	1609	56	3	1727	3	PRKCQ	10	6540451	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	583047	6540451	128994296	653	63615											
UPF2	26019	broad.mit.edu	37	chr10	12046600	12046600	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttaaacaagatggctgggAcaaaagccttcaaatcaatg	8	8	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:12046600A>T	uc001ila.2	-	4	1907	c.1433T>A	c.(1432-1434)GTC>GAC	p.V478D	UPF2_uc001ilb.2_Missense_Mutation_p.V478D|UPF2_uc001ilc.2_Missense_Mutation_p.V478D|UPF2_uc009xiz.1_Missense_Mutation_p.V478D	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	478					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				GATGGCTGGGACAAAAGCCTT	0.348													T	12046600	A	T	12046600	3	4	96	1	0	0	0	0	1	0	0	0	17001	275	10	5	2457	5	UPF2	10	12046600	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	5506149	12046600	123488147	654	63616											
RSU1	6251	broad.mit.edu	37	chr10	16635430	16635430	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggtttccggctgatcTttttcgatttgtcattattc	9	9	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:16635430T>G	uc001iok.2	-	8	1099	c.797A>C	c.(796-798)AAG>ACG	p.K266T	RSU1_uc001iol.2_Missense_Mutation_p.K266T|RSU1_uc001iom.2_Missense_Mutation_p.K213T	NM_152724	NP_689937	Q15404	RSU1_HUMAN	ras suppressor protein 1 isoform 2	266					cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(1;7.54e-08)		CCGGCTGATCTTTTTCGATTT	0.493													G	16635430	T	G	16635430	3	3	96	1	0	0	0	0	1	0	0	0	13716	1609	56	5	40	5	RSU1	10	16635430	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4588830	16635430	118899317	655	63617											
CUBN	8029	broad.mit.edu	37	chr10	17113591	17113591	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaccccttctccagttaatTcatccccgcaagctgtaagc	6	15	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:17113591T>G	uc001ioo.2	-	19	2511	c.2459A>C	c.(2458-2460)GAA>GCA	p.E820A		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	820	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCCAGTTAATTCATCCCCGCA	0.413													G	17113591	T	G	17113591	3	3	96	1	0	0	0	0	1	0	0	0	4051	1783	62	5	8608	5	CUBN	10	17113591	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	478161	17113591	118421156	656	63618											
GPR158	57512	broad.mit.edu	37	chr10	25887698	25887698	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttttccttaaaggagaaatCtcaccacaagcctaaggcag	7	10	1	1	rs149957388	byFrequency	TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:25887698C>A	uc001isj.2	+	11	3203	c.3143C>A	c.(3142-3144)TCT>TAT	p.S1048Y	GPR158_uc001isk.2_Missense_Mutation_p.S423Y	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	1048	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						AAGGAGAAATCTCACCACAAG	0.458													A	25887698	C	A	25887698	3	1	96	1	0	0	0	0	1	0	0	0	6663	913	32	5	3185	5	GPR158	10	25887698	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	8774107	25887698	109647049	657	63619											
GAD2	2572	broad.mit.edu	37	chr10	26559570	26559570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctttctcgttcgcacaggGgtttgttcctttcctcgtga	11	11	1	1	rs2839678		TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:26559570G>A	uc001isp.2	+	10	1480	c.977G>A	c.(976-978)GGG>GAG	p.G326E	GAD2_uc001isq.2_Missense_Mutation_p.G326E	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	326					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Glutamic Acid(DB00142)	TTCGCACAGGGGTTTGTTCCT	0.463													A	26559570	G	A	26559570	3	1	96	1	0	0	0	0	1	0	0	0	6180	1246	43	4	1015	4	GAD2	10	26559570	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	671872	26559570	108975177	658	63620											
WAC	51322	broad.mit.edu	37	chr10	28899749	28899749	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcagctctctacacaAggtattcttactcatcttag	6	12	5	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:28899749A>C	uc001iuf.2	+	9	1372	c.1287A>C	c.(1285-1287)CAA>CAC	p.Q429H	WAC_uc001iud.2_Missense_Mutation_p.Q384H|WAC_uc001iue.2_Missense_Mutation_p.Q119H|WAC_uc001iug.2_Missense_Mutation_p.Q326H|WAC_uc001iuh.2_Missense_Mutation_p.Q381H	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	429					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2						TCTCTACACAAGGTATTCTTA	0.338													C	28899749	A	C	28899749	3	2	96	1	0	0	0	0	1	0	0	0	17244	86	3	5	1321	5	WAC	10	28899749	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2340179	28899749	106634998	659	63621											
KIF5B	3799	broad.mit.edu	37	chr10	32317437	32317437	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcatctcagctgctcgtttTttctggtggttggtcatttc	9	9	4	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:32317437T>C	uc001iwe.3	-	15	2114	c.1644A>G	c.(1642-1644)AAA>AAG	p.K548K		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	548					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)				CTGCTCGTTTTTTCTGGTGGT	0.353													C	32317437	T	C	32317437	2	2	96	1	0	0	0	0	0	0	0	1	8306	1838	64	3		3	KIF5B	10	32317437	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3417688	32317437	103217310	660	63622											
FZD8	8325	broad.mit.edu	37	chr10	35930201	35930201	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggttgaactgattgggcaTgtaggtgtagttgtagccga	16	4	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:35930201T>C	uc001iyz.1	-	1	162	c.157A>G	c.(157-159)ATG>GTG	p.M53V		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	53	FZ.|Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0						TGATTGGGCATGTAGGTGTAG	0.627													C	35930201	T	C	35930201	3	2	96	1	0	0	0	0	1	0	0	0	6136	1464	51	3	1931	3	FZD8	10	35930201	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3612764	35930201	99604546	661	63623											
BMS1	9790	broad.mit.edu	37	chr10	43312891	43312891	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgcagaatatgatgaaggAgaaagcacatattttgatga	11	3	0	6			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:43312891A>G	uc001jaj.2	+	15	2887	c.2529A>G	c.(2527-2529)GGA>GGG	p.G843G		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	843					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						ATGATGAAGGAGAAAGCACAT	0.393													G	43312891	A	G	43312891	2	3	96	1	0	0	0	0	0	0	0	1	1472	291	11	3		3	BMS1	10	43312891	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	7382690	43312891	92221856	662	63624											
OR13A1	79290	broad.mit.edu	37	chr10	45799853	45799853	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgggactatcaggtgactCtccatccacagcttcatgtg	9	12	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:45799853C>T	uc001jcc.1	-	4	327	c.18G>A	c.(16-18)GAG>GAA	p.E6E	OR13A1_uc001jcd.1_Silent_p.E2E	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A,	6	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TCAGGTGACTCTCCATCCACA	0.522													T	45799853	C	T	45799853	2	4	96	1	0	0	0	0	0	0	0	1	10933	912	32	4		4	OR13A1	10	45799853	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	2486962	45799853	89734894	663	63625											
RBP3	5949	broad.mit.edu	37	chr10	48385883	48385883	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcatccgtgtgcatgatcTtcttccagatgtgctccacc	9	13	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:48385883T>G	uc001jez.2	-	2	3323	c.3209A>C	c.(3208-3210)AAG>ACG	p.K1070T		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	1070	4 X approximate tandem repeats.|4.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	GTGCATGATCTTCTTCCAGAT	0.567													G	48385883	T	G	48385883	3	3	96	1	0	0	0	0	1	0	0	0	13157	1609	56	5	546	5	RBP3	10	48385883	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2586030	48385883	87148864	664	63626											
ERCC6	2074	broad.mit.edu	37	chr10	50678232	50678232	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatcaaatggattacctgaTtttttgaaaagcttttccaa	6	6	1	2	rs35756610	byFrequency	TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:50678232T>G	uc001jhs.3	-	18	3928	c.3774A>C	c.(3772-3774)AAA>AAC	p.K1258N	ERCC6_uc009xod.2_Missense_Mutation_p.K418N|ERCC6_uc010qgr.1_Missense_Mutation_p.K628N|ERCC6_uc001jhr.3_Missense_Mutation_p.K626N	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	1258					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						GATTACCTGATTTTTTGAAAA	0.408								Direct_reversal_of_damage|NER					G	50678232	T	G	50678232	3	3	96	1	0	0	0	0	1	0	0	0	5217	1490	52	5	723	5	ERCC6	10	50678232	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2292349	50678232	84856515	665	63627											
TFAM	7019	broad.mit.edu	37	chr10	60154155	60154156	+	Frame_Shift_Del	DEL	TG	TG	-													aaaggaaaactggaaaaatcTgtctgactctgaaaaggaag							TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:60154154_60154155CTG>C	uc001jkf.3	+	5	706_707	c.574_575CTG>C	c.(574-576)ctgfs	p.L192fs	TFAM_uc001jkg.3_Non-coding_Transcript	NM_003201	NP_003192	Q00059	TFAM_HUMAN	Homo sapiens transcription factor A, mitochondrial (TFAM), nuclear gene encoding mitochondrial protein, mRNA.	192					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						CTGGAAAAATCTGTCTGACTCT	0.356													-	60154156	TG	-	60154155	7	5	96	1	0	1	0	1	0	0	0	0	15783	1580	55	0	597	0	TFAM	10	60154155	Frame_Shift_Del	DEL	TG	TCGA-BR-8589-01A-11D-2394-08	9475923	60154155	75380592	666	63628											
RHOBTB1	9886	broad.mit.edu	37	chr10	62648482	62648482	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctggaaatctctgctctgcTtctctttctcacaggctcct	6	15	4	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:62648482T>A	uc001jli.2	-	7	1382	c.944A>T	c.(943-945)AAG>ATG	p.K315M	RHOBTB1_uc001jlh.2_Missense_Mutation_p.K315M|RHOBTB1_uc001jlj.2_Missense_Mutation_p.K315M|RHOBTB1_uc001jlk.2_Missense_Mutation_p.K315M|RHOBTB1_uc009xpe.1_Missense_Mutation_p.K253M|RHOBTB1_uc001jll.2_Missense_Mutation_p.K65M	NM_014836	NP_055651	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	315	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			upper_aerodigestive_tract(1)	1	Prostate(12;0.0112)					TCTGCTCTGCTTCTCTTTCTC	0.493													A	62648482	T	A	62648482	3	1	96	1	0	0	0	0	1	0	0	0	13333	1609	56	5	1170	5	RHOBTB1	10	62648482	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2494327	62648482	72886265	667	63629											
LRRTM3	347731	broad.mit.edu	37	chr10	68687062	68687062	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attttcttaacaataccttcAgacctgtgacaaatttacgg	5	9	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:68687062A>T	uc001jmz.1	+	2	938	c.388A>T	c.(388-390)AGA>TGA	p.R130*	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Nonsense_Mutation_p.R130*	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	130	LRR 3.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						CAATACCTTCAGACCTGTGAC	0.398													T	68687062	A	T	68687062	4	4	96	1	0	0	0	0	0	1	0	0	9041	180	7	5	394	5	LRRTM3	10	68687062	Nonsense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	6038580	68687062	66847685	668	63630											
HERC4	26091	broad.mit.edu	37	chr10	69748461	69748461	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttaatgcagtatgaagaaAactgttgaaaattcttcttt	6	5	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:69748461A>C	uc001jng.3	-	15	2076	c.1765T>G	c.(1765-1767)TTT>GTT	p.F589V	HERC4_uc009xpq.2_Missense_Mutation_p.F130V|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.F589V|HERC4_uc009xpr.2_Missense_Mutation_p.F589V|HERC4_uc001jni.3_Missense_Mutation_p.F333V|HERC4_uc001jnj.2_Missense_Mutation_p.F589V	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	589					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						GTATGAAGAAAACTGTTGAAA	0.333													C	69748461	A	C	69748461	3	2	96	1	0	0	0	0	1	0	0	0	7060	14	1	5	1456	5	HERC4	10	69748461	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1061399	69748461	65786286	669	63631											
RUFY2	55680	broad.mit.edu	37	chr10	70139223	70139223	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtaattttattggttTtttcttctagtcgggcaatt	8	6	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:70139223T>G	uc001job.2	-	12	1595	c.1268A>C	c.(1267-1269)AAA>ACA	p.K423T	RUFY2_uc001jnz.1_RNA|RUFY2_uc001joa.2_5'Flank|RUFY2_uc001joc.2_Missense_Mutation_p.K354T|RUFY2_uc010qiw.1_Missense_Mutation_p.K330T|RUFY2_uc001jod.1_Missense_Mutation_p.K388T	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain-containing 2 isoform a	437	Potential.					nucleus	metal ion binding			ovary(1)	1						TTTATTGGTTTTTTCTTCTAG	0.264													G	70139223	T	G	70139223	3	3	96	1	0	0	0	0	1	0	0	0	13739	1841	64	5	798	5	RUFY2	10	70139223	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	390762	70139223	65395524	670	63632											
CDH23	64072	broad.mit.edu	37	chr10	73548718	73548718	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attatgacttgcttctgatcTtcctttctgatgagaatgac	7	8	3	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:73548718T>G	uc001jrx.3	+	43	6219	c.5842T>G	c.(5842-5844)TTC>GTC	p.F1948V		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1948	Cadherin 18.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GCTTCTGATCTTCCTTTCTGA	0.562													G	73548718	T	G	73548718	3	3	96	1	0	0	0	0	1	0	0	0	3108	1609	56	5	6361	5	CDH23	10	73548718	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3409495	73548718	61986029	671	63633											
AP3M1	26985	broad.mit.edu	37	chr10	75884219	75884219	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggggctccagactgtaaatTtaccagtcctttaagacttg	10	9	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:75884219T>G	uc001jwf.2	-	8	1505	c.1075A>C	c.(1075-1077)AAT>CAT	p.N359H	AP3M1_uc001jwg.2_Missense_Mutation_p.N359H|AP3M1_uc001jwh.2_Missense_Mutation_p.N359H|AP3M1_uc010qla.1_Missense_Mutation_p.N305H	NM_207012	NP_996895	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	359	MHD.				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding				0	Prostate(51;0.0112)					GACTGTAAATTTACCAGTCCT	0.388													G	75884219	T	G	75884219	3	3	96	1	0	0	0	0	1	0	0	0	747	1841	64	5	189	5	AP3M1	10	75884219	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2335501	75884219	59650528	672	63634											
KCNMA1	3778	broad.mit.edu	37	chr10	78943197	78943197	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accaagccaacttctgtttaAgtacacagacacaaacacgg	6	12	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:78943197A>C	uc001jxn.2	-	5	967	c.790T>G	c.(790-792)TTA>GTA	p.L264V	KCNMA1_uc001jxj.2_Missense_Mutation_p.L264V|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Missense_Mutation_p.L84V|KCNMA1_uc001jxo.2_Missense_Mutation_p.L264V|KCNMA1_uc001jxm.2_Missense_Mutation_p.L264V|KCNMA1_uc001jxq.2_Missense_Mutation_p.L264V	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	264	Extracellular (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CTTCTGTTTAAGTACACAGAC	0.498													C	78943197	A	C	78943197	3	2	96	1	0	0	0	0	1	0	0	0	8073	69	3	5	3188	5	KCNMA1	10	78943197	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3058978	78943197	56591550	673	63635											
MINPP1	9562	broad.mit.edu	37	chr10	89272956	89272956	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taaatctccttggtgtgatgTttttgacatagatgatgcaa	9	5	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:89272956T>A	uc001keu.2	+	3	1361	c.911T>A	c.(910-912)GTT>GAT	p.V304D	MINPP1_uc009xtf.1_Intron|MINPP1_uc001kev.2_Intron	NM_004897	NP_004888	Q9UNW1	MINP1_HUMAN	multiple inositol polyphosphate histidine	304					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			urinary_tract(1)	1		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		TGGTGTGATGTTTTTGACATA	0.313													A	89272956	T	A	89272956	3	1	96	1	0	0	0	0	1	0	0	0	9588	1725	60	5	959	5	MINPP1	10	89272956	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	10329759	89272956	46261791	674	63636											
LIPJ	142910	broad.mit.edu	37	chr10	90356123	90356123	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttttttccacaaagtacTtaaaaagtcctttaattaga	4	7	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:90356123T>G	uc001kff.2	+	7	840	c.526T>G	c.(526-528)TTA>GTA	p.L176V		NM_001010939	NP_001010939	Q5W064	LIPJ_HUMAN	lipase, family member J	176					lipid catabolic process		hydrolase activity			ovary(1)	1		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		CACAAAGTACTTAAAAAGTCC	0.259													G	90356123	T	G	90356123	3	3	96	1	0	0	0	0	1	0	0	0	8826	1606	56	5	544	5	LIPJ	10	90356123	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1083167	90356123	45178624	675	63637											
LIPF	8513	broad.mit.edu	37	chr10	90427074	90427075	+	Frame_Shift_Ins	INS	-	-	TGGCAAGTTT													atgtggctgcttttaacaatINSggcaagtttgatatctgtac							TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:90427073_90427074A>ATGGCAAGTTT	uc001kfg.2	+	1	133_134	c.19_20A>ATGGCAAGTTT	c.(19-21)atgfs	p.M7fs	LIPF_uc009xtk.3_Frame_Shift_Ins_p.M7fs|LIPF_uc001kfh.2_Frame_Shift_Ins_p.M17fs|LIPF_uc010qmt.2_Frame_Shift_Ins_p.M17fs|LIPF_uc010qmu.2_Frame_Shift_Ins_p.M7fs	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	7					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		GCTTTTAACAATGGCAAGTTTG	0.381													TGGCAAGTTT	90427075	-	TGGCAAGTTT	90427074	7	5	96	1	0	1	1	0	0	0	0	0	8822	1464	51	0	22	0	LIPF	10	90427074	Frame_Shift_Ins	INS	-	TCGA-BR-8589-01A-11D-2394-08	70951	90427074	45107673	676	63638											
LIPF	8513	broad.mit.edu	37	chr10	90428495	90428495	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtactattcaccagattcagTtgaattctgggctttcaggt	9	8	4	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:90428495T>A	uc001kfg.1	+	4	570	c.404T>A	c.(403-405)GTT>GAT	p.V135D	LIPF_uc009xtk.2_Missense_Mutation_p.V135D|LIPF_uc001kfh.1_Missense_Mutation_p.V112D|LIPF_uc010qmt.1_Missense_Mutation_p.V145D|LIPF_uc010qmu.1_Missense_Mutation_p.V102D	NM_004190	NP_004181	P07098	LIPG_HUMAN	lipase, gastric precursor	135					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity				0		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		CCAGATTCAGTTGAATTCTGG	0.428													A	90428495	T	A	90428495	3	1	96	1	0	0	0	0	1	0	0	0	8822	1725	60	5	414	5	LIPF	10	90428495	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1421	90428495	45106252	677	63639											
HTR7	3363	broad.mit.edu	37	chr10	92508893	92508893	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcacacggtaaaggccccgAcgatgatccccagggtggtg	14	12	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:92508893A>G	uc001kha.2	-	2	1241	c.998T>C	c.(997-999)GTC>GCC	p.V333A	HTR7_uc001kgz.2_Missense_Mutation_p.V333A|HTR7_uc001khb.2_Missense_Mutation_p.V333A	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	333	Helical; Name=6; (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	AAAGGCCCCGACGATGATCCC	0.537													G	92508893	A	G	92508893	3	3	96	1	0	0	0	0	1	0	0	0	7452	275	10	3	457	3	HTR7	10	92508893	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2080398	92508893	43025854	678	63640											
BTAF1	9044	broad.mit.edu	37	chr10	93741866	93741866	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acaggtggtaaggtgcgccaAggccaaagccagaataaaga	13	8	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:93741866A>T	uc001khr.2	+	17	2030	c.1932A>T	c.(1930-1932)CAA>CAT	p.Q644H	BTAF1_uc001khs.1_Missense_Mutation_p.Q314H|BTAF1_uc001kht.1_Missense_Mutation_p.Q82H	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	644					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				AGGTGCGCCAAGGCCAAAGCC	0.423													T	93741866	A	T	93741866	3	4	96	1	0	0	0	0	1	0	0	0	1536	69	3	5	1998	5	BTAF1	10	93741866	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1232973	93741866	41792881	679	63641											
GPR120	338557	broad.mit.edu	37	chr10	95326534	95326534	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttgcgcagcctggagcaAgccaaccgcacccgctttcc	9	19	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:95326534A>C	uc010qnt.1	+	1	113	c.57A>C	c.(55-57)CAA>CAC	p.Q19H	GPR120_uc010qnu.1_Missense_Mutation_p.Q19H	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	G protein-coupled receptor 120	19	Extracellular (Potential).				negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding				0		Colorectal(252;0.122)				GCCTGGAGCAAGCCAACCGCA	0.687													C	95326534	A	C	95326534	3	2	96	1	0	0	0	0	1	0	0	0	6636	69	3	5	59	5	GPR120	10	95326534	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1584668	95326534	40208213	680	63642											
C10orf129	142827	broad.mit.edu	37	chr10	96971666	96971666	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctccagccaacagatgtcTtgtggagtctgggtgatgcc	12	10	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:96971666T>G	uc001kke.2	+	6	912	c.787T>G	c.(787-789)TTG>GTG	p.L263V	C10orf129_uc009xuu.1_Missense_Mutation_p.L173V	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	acyl-coenzyme A synthetase ACSM6, mitochondrial	263					fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding				0		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		AACAGATGTCTTGTGGAGTCT	0.473													G	96971666	T	G	96971666	3	3	96	1	0	0	0	0	1	0	0	0	1593	1606	56	5	805	5	C10orf129	10	96971666	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1645132	96971666	38563081	681	63643											
TM9SF3	56889	broad.mit.edu	37	chr10	98303924	98303924	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacacaccatagctgggataAggaatgccccaataaacatc	7	12	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:98303924A>C	uc001kmm.3	-	9	1311	c.1094T>G	c.(1093-1095)CTT>CGT	p.L365R	TM9SF3_uc010qot.1_Missense_Mutation_p.L365R|TM9SF3_uc001kmn.1_Missense_Mutation_p.L134R	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	365	Helical; (Potential).					integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		AGCTGGGATAAGGAATGCCCC	0.363													C	98303924	A	C	98303924	3	2	96	1	0	0	0	0	1	0	0	0	15976	72	3	5	703	5	TM9SF3	10	98303924	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1332258	98303924	37230823	682	63644											
SLIT1	6585	broad.mit.edu	37	chr10	98806540	98806540	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcaatttctgacaccttgTtgttgctcagattgctggga	9	9	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:98806540T>C	uc001kmw.2	-	18	1976	c.1724A>G	c.(1723-1725)AAC>AGC	p.N575S	SLIT1_uc009xvh.1_Missense_Mutation_p.N585S	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	575	LRR 13.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGACACCTTGTTGTTGCTCAG	0.607													C	98806540	T	C	98806540	3	2	96	1	0	0	0	0	1	0	0	0	14739	1725	60	3	2960	3	SLIT1	10	98806540	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	502616	98806540	36728207	683	63645											
DNMBP	23268	broad.mit.edu	37	chr10	101715673	101715673	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaggcttcatctccaatcTctctgagatggagtaaacac	7	12	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:101715673T>C	uc001kqj.2	-	4	1650	c.1558A>G	c.(1558-1560)AGA>GGA	p.R520G	NCRNA00093_uc001kqk.1_Intron	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	520					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATCTCCAATCTCTCTGAGATG	0.502													C	101715673	T	C	101715673	3	2	96	1	0	0	0	0	1	0	0	0	4674	1559	54	3	3231	3	DNMBP	10	101715673	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2909133	101715673	33819074	684	63646											
SEC31B	25956	broad.mit.edu	37	chr10	102267705	102267705	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttgatgataggttcattcTtcctgagatcccacacaact	6	11	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:102267705T>A	uc001krc.1	-	6	701	c.599A>T	c.(598-600)AAG>ATG	p.K200M	SEC31B_uc010qpo.1_Missense_Mutation_p.K199M|SEC31B_uc001krd.1_Translation_Start_Site|SEC31B_uc001krf.1_Translation_Start_Site|SEC31B_uc001kre.1_Translation_Start_Site|SEC31B_uc001krg.1_Translation_Start_Site|SEC31B_uc010qpp.1_Missense_Mutation_p.K203M|SEC31B_uc009xwn.1_Missense_Mutation_p.K200M|SEC31B_uc009xwo.1_Missense_Mutation_p.K200M|SEC31B_uc010qpq.1_Missense_Mutation_p.K43M|SEC31B_uc010qpr.1_RNA	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	200	WD 3.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGGTTCATTCTTCCTGAGATC	0.532													A	102267705	T	A	102267705	3	1	96	1	0	0	0	0	1	0	0	0	13999	1609	56	5	3024	5	SEC31B	10	102267705	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	552032	102267705	33267042	685	63647											
LZTS2	84445	broad.mit.edu	37	chr10	102762461	102762461	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccctcctgggcccaccttcTtccgccagcaggatggcctg	11	18	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:102762461T>G	uc001ksj.2	+	2	235	c.166T>G	c.(166-168)TTC>GTC	p.F56V	LZTS2_uc010qpw.1_Missense_Mutation_p.F56V|LZTS2_uc001ksk.2_Missense_Mutation_p.F56V|LZTS2_uc001ksl.2_Missense_Mutation_p.F56V|LZTS2_uc001ksm.2_RNA	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	56	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				ovary(2)|large_intestine(1)|breast(1)	4				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GCCCACCTTCTTCCGCCAGCA	0.677													G	102762461	T	G	102762461	3	3	96	1	0	0	0	0	1	0	0	0	9139	1609	56	5	168	5	LZTS2	10	102762461	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	494756	102762461	32772286	686	63648											
KCNIP2	30819	broad.mit.edu	37	chr10	103588422	103588422	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagtaaatctgcttgaagTtctcctcattgacaattccg	9	9	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:103588422T>G	uc001kub.2	-	5	732	c.380A>C	c.(379-381)AAC>ACC	p.N127T	KCNIP2_uc010qqg.1_Missense_Mutation_p.N71T|KCNIP2_uc001ktx.2_RNA|KCNIP2_uc001kty.2_Missense_Mutation_p.T49P|KCNIP2_uc001ktz.2_Missense_Mutation_p.N82T|KCNIP2_uc009xwu.2_Missense_Mutation_p.N77T|KCNIP2_uc009xwv.2_Missense_Mutation_p.N77T|KCNIP2_uc001kuc.2_Missense_Mutation_p.N142T|KCNIP2_uc001kue.2_Missense_Mutation_p.N109T|KCNIP2_uc001kud.2_Missense_Mutation_p.N84T|KCNIP2_uc001kuf.2_Missense_Mutation_p.N77T|KCNIP2_uc001kua.2_Missense_Mutation_p.N58T|KCNIP2_uc009xww.2_RNA|KCNIP2_uc010qqh.1_Missense_Mutation_p.N82T|KCNIP2_uc010qqi.1_Missense_Mutation_p.N77T	NM_173191	NP_775283	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2 isoform 2	127	EF-hand 1; degenerate.				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding				0		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		CTGCTTGAAGTTCTCCTCATT	0.562													G	103588422	T	G	103588422	3	3	96	1	0	0	0	0	1	0	0	0	8040	1725	60	5	503	5	KCNIP2	10	103588422	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	825961	103588422	31946325	687	63649											
PSD	5662	broad.mit.edu	37	chr10	104164360	104164360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggagaggcgggtggcagCgctgggcaggagagggcggc	24	8	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:104164360C>T	uc001kvg.1	-	15	3207	c.2680G>A	c.(2680-2682)GCT>ACT	p.A894T	PSD_uc001kve.1_Missense_Mutation_p.A102T|PSD_uc001kvf.1_Missense_Mutation_p.A263T|PSD_uc001kvh.1_Missense_Mutation_p.A515T|PSD_uc009xxd.1_Missense_Mutation_p.A894T	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	894					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CGGGTGGCAGCGCTGGGCAGG	0.567													T	104164360	C	T	104164360	3	4	96	1	0	0	0	0	1	0	0	0	12646	768	27	1	406	1	PSD	10	104164360	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	575938	104164360	31370387	688	63650											
SFXN2	118980	broad.mit.edu	37	chr10	104492639	104492639	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccagtcatcatggaaAggcttgagaaattgcacttc	10	9	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:104492639A>C	uc001kwb.2	+	9	911	c.745A>C	c.(745-747)AGG>CGG	p.R249R	SFXN2_uc001kwc.2_RNA|SFXN2_uc001kwd.2_RNA	NM_178858	NP_849189	Q96NB2	SFXN2_HUMAN	sideroflexin 2	249	Helical; (Potential).				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity				0		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CATCATGGAAAGGCTTGAGAA	0.547													C	104492639	A	C	104492639	2	2	96	1	0	0	0	0	0	0	0	1	14195	63	3	5		5	SFXN2	10	104492639	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	328279	104492639	31042108	689	63651											
CYP17A1	1586	broad.mit.edu	37	chr10	104597033	104597033	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagggacaggaggctcTtggggtacttggcaccaggg	20	8	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:104597033T>A	uc001kwg.2	-	1	258	c.86A>T	c.(85-87)AAG>ATG	p.K29M		NM_000102	NP_000093	P05093	CP17A_HUMAN	cytochrome P450, family 17	29					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	CAGGAGGCTCTTGGGGTACTT	0.572													A	104597033	T	A	104597033	3	1	96	1	0	0	0	0	1	0	0	0	4147	1609	56	5	1472	5	CYP17A1	10	104597033	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	104394	104597033	30937714	690	63652											
PDCD11	22984	broad.mit.edu	37	chr10	105202143	105202143	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggctgcagtacatggcTttccacctgcaggccacgga	12	13	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:105202143T>C	uc001kwy.1	+	32	4968	c.4881T>C	c.(4879-4881)GCT>GCC	p.A1627A		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1627	HAT 1.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGTACATGGCTTTCCACCTGC	0.612													C	105202143	T	C	105202143	2	2	96	1	0	0	0	0	0	0	0	1	11617	1596	56	3		3	PDCD11	10	105202143	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	605110	105202143	30332604	691	63653											
GSTO2	119391	broad.mit.edu	37	chr10	106058929	106058929	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcggctctggatatcagccAtgaagtgggaccccacagtc	12	12	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:106058929A>T	uc001kyb.2	+	7	1247	c.619A>T	c.(619-621)ATG>TTG	p.M207L	GSTO2_uc010qqx.1_Missense_Mutation_p.M173L|GSTO2_uc001kyc.2_Missense_Mutation_p.M179L|GSTO2_uc010qqy.1_Missense_Mutation_p.H109L	NM_183239	NP_899062	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	207	GST C-terminal.				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	GATATCAGCCATGAAGTGGGA	0.517													T	106058929	A	T	106058929	3	4	96	1	0	0	0	0	1	0	0	0	6843	217	8	5	641	5	GSTO2	10	106058929	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	856786	106058929	29475818	692	63654											
SORCS3	22986	broad.mit.edu	37	chr10	106970996	106970996	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccttggtcaaagctaccTtaacagcactgggtaagtaa	9	10	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:106970996T>G	uc001kyi.1	+	17	2590	c.2363T>G	c.(2362-2364)CTT>CGT	p.L788R	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	788	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAAAGCTACCTTAACAGCACT	0.463													G	106970996	T	G	106970996	3	3	96	1	0	0	0	0	1	0	0	0	14932	1609	56	5	2429	5	SORCS3	10	106970996	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	912067	106970996	28563751	693	63655											
DUSP5	1847	broad.mit.edu	37	chr10	112257917	112257917	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacgggcgccagctgcgcaAgatgctccgcaaggaggcgg	17	13	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:112257917A>G	uc001kzd.2	+	1	293	c.38A>G	c.(37-39)AAG>AGG	p.K13R		NM_004419	NP_004410	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	13					endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		CAGCTGCGCAAGATGCTCCGC	0.532													G	112257917	A	G	112257917	3	3	96	1	0	0	0	0	1	0	0	0	4828	72	3	3	40	3	DUSP5	10	112257917	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	5286921	112257917	23276830	694	63656											
DUSP5	1847	broad.mit.edu	37	chr10	112257929	112257929	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgcaagatgctccgcaAggaggcggcggcgcgctgcg	18	13	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:112257929A>G	uc001kzd.2	+	1	305	c.50A>G	c.(49-51)AAG>AGG	p.K17R		NM_004419	NP_004410	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	17					endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		ATGCTCCGCAAGGAGGCGGCG	0.522													G	112257929	A	G	112257929	3	3	96	1	0	0	0	0	1	0	0	0	4828	72	3	3	52	3	DUSP5	10	112257929	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	12	112257929	23276818	695	63657											
ADRA2A	150	broad.mit.edu	37	chr10	112838854	112838854	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcagggccgggggaggAgcgcgtcggggctgccaagg	23	10	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:112838854A>G	uc001kzo.2	+	1	2065	c.1100A>G	c.(1099-1101)GAG>GGG	p.E367G		NM_000681	NP_000672	P08913	ADA2A_HUMAN	alpha-2A-adrenergic receptor	352	Cytoplasmic (By similarity).			PRRGPGATGIGTPAAGPGEERVGAAKASRWRGR -> RGAG RGRRGSGRRLQGRGRSASGLPRRRAGAGG (in Ref. 1; AAA51664 and 2; AAA51665).	actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding				0		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	CCGGGGGAGGAGCGCGTCGGG	0.652													G	112838854	A	G	112838854	3	3	96	1	0	0	0	0	1	0	0	0	337	304	11	3	1102	3	ADRA2A	10	112838854	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	580925	112838854	22695893	696	63658											
TDRD1	56165	broad.mit.edu	37	chr10	115959054	115959054	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcttcggtccacaacTtgccatcgctgtggcctatt	7	16	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:115959054T>G	uc001lbg.1	+	4	660	c.507T>G	c.(505-507)ACT>ACG	p.T169T	TDRD1_uc001lbf.2_Silent_p.T160T|TDRD1_uc001lbh.1_Silent_p.T160T|TDRD1_uc001lbi.1_Silent_p.T160T	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	169					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GGTCCACAACTTGCCATCGCT	0.403													G	115959054	T	G	115959054	2	3	96	1	0	0	0	0	0	0	0	1	15727	1596	56	5		5	TDRD1	10	115959054	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3120200	115959054	19575693	697	63659											
AFAP1L2	84632	broad.mit.edu	37	chr10	116055820	116055820	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctaacttgctcctttcttcTcccattcctagggtaccatt	4	14	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:116055820T>A	uc001lbn.2	-	19	2739	c.2438A>T	c.(2437-2439)GAG>GTG	p.E813V	AFAP1L2_uc001lbo.2_Missense_Mutation_p.E809V|AFAP1L2_uc010qse.1_Missense_Mutation_p.E866V|AFAP1L2_uc001lbp.2_Missense_Mutation_p.E837V|AFAP1L2_uc001lbm.2_Missense_Mutation_p.E252V|AFAP1L2_uc010qsd.1_Missense_Mutation_p.E375V|AFAP1L2_uc001lbq.1_3'UTR	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	KIAA1914 protein isoform 1	813					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			ovary(1)|breast(1)	2		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TCCTTTCTTCTCCCATTCCTA	0.403													A	116055820	T	A	116055820	3	1	96	1	0	0	0	0	1	0	0	0	355	1551	54	5	22	5	AFAP1L2	10	116055820	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	96766	116055820	19478927	698	63660											
PNLIP	5406	broad.mit.edu	37	chr10	118320982	118320982	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttaacttcttaaatccttAggggcactctcaaaccagat	6	10	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:118320982A>G	uc001lcm.2	+	12	1213	c.1170_splice	c.e12-2	p.K390_splice		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor						lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|skin(1)	3				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TTAAATCCTTAGGGGCACTCT	0.244													G	118320982	A	G	118320982	5	3	96	1	0	0	0	0	0	0	1	0	12149	434	15	3	1210	3	PNLIP	10	118320982	Splice_Site	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2265162	118320982	17213765	699	63661											
ZRANB1	54764	broad.mit.edu	37	chr10	126631424	126631424	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtcctacagaatctcctcAgtcctcaggatctggctcaa	8	13	5	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:126631424A>G	uc001lic.2	+	1	733	c.362A>G	c.(361-363)CAG>CGG	p.Q121R	ZRANB1_uc010qug.1_Missense_Mutation_p.Q147R	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	121					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GAATCTCCTCAGTCCTCAGGA	0.453													G	126631424	A	G	126631424	3	3	96	1	0	0	0	0	1	0	0	0	18219	188	7	3	364	3	ZRANB1	10	126631424	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	8310442	126631424	8903323	700	63662											
C10orf137	26098	broad.mit.edu	37	chr10	127412388	127412388	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taattttttaagaacataaaAaaactcctgaaaattcccta	2	7	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:127412388A>C	uc001liq.1	+	4	686	c.393A>C	c.(391-393)AAA>AAC	p.K131N	C10orf137_uc001lin.2_Missense_Mutation_p.K131N|C10orf137_uc001lio.1_Missense_Mutation_p.K131N|C10orf137_uc001lip.1_5'UTR	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGAACATAAAAAAACTCCTGA	0.328													C	127412388	A	C	127412388	3	2	96	1	0	0	0	0	1	0	0	0	1594	11	1	5	407	5	C10orf137	10	127412388	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	780964	127412388	8122359	701	63663											
C10orf90	118611	broad.mit.edu	37	chr10	128202463	128202463	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacatcagactggagatttTtaagggcaatttgatctctt	9	6	2	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:128202463T>G	uc001ljq.2	-	2	189	c.68A>C	c.(67-69)AAA>ACA	p.K23T	C10orf90_uc010qum.1_Missense_Mutation_p.K120T|C10orf90_uc009yao.2_Missense_Mutation_p.K120T|C10orf90_uc001ljs.1_5'UTR	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	23										ovary(1)|skin(1)	2		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTGGAGATTTTTAAGGGCAAT	0.353													G	128202463	T	G	128202463	3	3	96	1	0	0	0	0	1	0	0	0	1623	1841	64	5	2063	5	C10orf90	10	128202463	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	790075	128202463	7332284	702	63664											
BNIP3	664	broad.mit.edu	37	chr10	133787304	133787304	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcgcgcctacctgtcacAgtgagagctcttggagctac	12	12	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:133787304A>C	uc001lkv.1	-	2	316	c.190T>G	c.(190-192)TGT>GGT	p.C64G	BNIP3_uc010qut.1_Missense_Mutation_p.C64G	NM_004052	NP_004043	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kD-interacting protein 3	64					cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity			lung(1)|skin(1)	2		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TACCTGTCACAGTGAGAGCTC	0.512													C	133787304	A	C	133787304	3	2	96	1	0	0	0	0	1	0	0	0	1478	188	7	5	414	5	BNIP3	10	133787304	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	5584841	133787304	1747443	703	63665											
NKX6-2	84504	broad.mit.edu	37	chr10	134598505	134598505	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgagcagccgcgtgatcTtctcgtcgtccgagttgggg	14	11	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr10:134598505T>G	uc001llr.2	-	3	834	c.749A>C	c.(748-750)AAG>ACG	p.K250T		NM_177400	NP_796374	Q9C056	NKX62_HUMAN	NK6 transcription factor related, locus 2	250						nucleus	sequence-specific DNA binding transcription factor activity				0		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		CCGCGTGATCTTCTCGTCGTC	0.682													G	134598505	T	G	134598505	3	3	96	1	0	0	0	0	1	0	0	0	10458	1609	56	5	88	5	NKX6-2	10	134598505	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	811201	134598505	936242	704	63666											
NUP98	4928	broad.mit.edu	37	chr11	3712682	3712682	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccctccagatacgaaggaAgtggggagcaggcatatctg	13	9	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:3712682A>C	uc001lyh.2	-	28	4640	c.4349T>G	c.(4348-4350)CTT>CGT	p.L1450R	NUP98_uc001lyi.2_Missense_Mutation_p.L1450R|NUP98_uc001lyg.2_Missense_Mutation_p.L415R	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1467					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ATACGAAGGAAGTGGGGAGCA	0.423			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								C	3712682	A	C	3712682	3	2	96	1	0	0	0	0	1	0	0	0	10773	72	3	5	1077	5	NUP98	11	3712682	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08		3712682	131293834	705	63667											
OR51A4	401666	broad.mit.edu	37	chr11	4967444	4967444	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactctaatctgtttagttTttacacaataaacaattggg	5	7	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:4967444T>C	uc010qys.1	-	1	887	c.887A>G	c.(886-888)AAA>AGA	p.K296R		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTTTAGTTTTTACACAATA	0.398													C	4967444	T	C	4967444	3	2	96	1	0	0	0	0	1	0	0	0	11087	1841	64	3	56	3	OR51A4	11	4967444	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1254762	4967444	130039072	706	63668											
OR51L1	119682	broad.mit.edu	37	chr11	5020534	5020534	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagctgttcttcatccacAcattcacattcctggagtcc	5	15	4	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:5020534A>G	uc010qyu.1	+	1	322	c.322A>G	c.(322-324)ACA>GCA	p.T108A		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L,	108	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTCATCCACACATTCACATT	0.517													G	5020534	A	G	5020534	3	3	96	1	0	0	0	0	1	0	0	0	11102	159	6	3	324	3	OR51L1	11	5020534	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	53090	5020534	129985982	707	63669											
OR51L1	119682	broad.mit.edu	37	chr11	5021063	5021063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggcagacatctaccttcTtcttcccccagtccttaacc	4	17	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:5021063T>C	uc010qyu.1	+	1	851	c.851T>C	c.(850-852)CTT>CCT	p.L284P		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L,	284	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCTACCTTCTTCTTCCCCCA	0.448													C	5021063	T	C	5021063	3	2	96	1	0	0	0	0	1	0	0	0	11102	1609	56	3	853	3	OR51L1	11	5021063	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	529	5021063	129985453	708	63670											
OR51V1	283111	broad.mit.edu	37	chr11	5220987	5220987	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatcttttcagagaaaagAgtctaagcattctggtatga	8	5	4	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:5220987A>G	uc010qyz.1	-	1	944	c.944T>C	c.(943-945)CTC>CCC	p.L315P		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V,	315	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAGAAAAGAGTCTAAGCAT	0.343													G	5220987	A	G	5220987	3	3	96	1	0	0	0	0	1	0	0	0	11107	304	11	3	24	3	OR51V1	11	5220987	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	199924	5220987	129785529	709	63671											
OR51Q1	390061	broad.mit.edu	37	chr11	5444107	5444107	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatacacttattctgaaaaAtatcttgggcacagccacct	5	11	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:5444107A>C	uc010qzd.1	+	1	677	c.677A>C	c.(676-678)AAT>ACT	p.N226T	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q,	226	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTCTGAAAAATATCTTGGGC	0.488													C	5444107	A	C	5444107	3	2	96	1	0	0	0	0	1	0	0	0	11104	101	4	5	679	5	OR51Q1	11	5444107	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	223120	5444107	129562409	710	63672											
OR51I2	390064	broad.mit.edu	37	chr11	5475026	5475026	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctaattcagatgtttcTtattcacttcttctccatga	4	10	6	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:5475026T>G	uc010qzf.1	+	1	308	c.308T>G	c.(307-309)CTT>CGT	p.L103R	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I,	103	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGATGTTTCTTATTCACTTC	0.488													G	5475026	T	G	5475026	3	3	96	1	0	0	0	0	1	0	0	0	11101	1609	56	5	310	5	OR51I2	11	5475026	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	30919	5475026	129531490	711	63673											
OR52E6	390078	broad.mit.edu	37	chr11	5862229	5862229	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagcactgtctccctaAtatgtttggttctgacccca	6	14	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:5862229A>C	uc010qzq.1	-	1	899	c.899T>G	c.(898-900)ATT>AGT	p.I300S	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTCTCCCTAATATGTTTGGT	0.433													C	5862229	A	C	5862229	3	2	96	1	0	0	0	0	1	0	0	0	11117	101	4	5	44	5	OR52E6	11	5862229	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	387203	5862229	129144287	712	63674											
OR56A4	120793	broad.mit.edu	37	chr11	6024227	6024227	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggagatgccatgtaaAgtttcctgatcaatctggag	12	7	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:6024227A>T	uc010qzv.1	-	1	152	c.152T>A	c.(151-153)CTT>CAT	p.L51H		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A,	200	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCATGTAAAGTTTCCTGAT	0.468													T	6024227	A	T	6024227	3	4	96	1	0	0	0	0	1	0	0	0	11135	72	3	5	947	5	OR56A4	11	6024227	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	161998	6024227	128982289	713	63675											
OR10A4	283297	broad.mit.edu	37	chr11	6898191	6898191	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgccactcagatgtatttcTtcttcttttttggggctgct	9	9	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:6898191T>A	uc010rat.1	+	1	313	c.313T>A	c.(313-315)TTC>ATC	p.F105I		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A,	105	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GATGTATTTCTTCTTCTTTTT	0.517													A	6898191	T	A	6898191	3	1	96	1	0	0	0	0	1	0	0	0	10892	1609	56	5	315	5	OR10A4	11	6898191	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	873964	6898191	128108325	714	63676											
NLRP14	338323	broad.mit.edu	37	chr11	7060994	7060994	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggctggagagacacaAgaagatcaggaggcagtgct	15	8	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:7060994A>C	uc001mfb.1	+	3	662	c.339A>C	c.(337-339)CAA>CAC	p.Q113H		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	113					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAGAGACACAAGAAGATCAGG	0.473													C	7060994	A	C	7060994	3	2	96	1	0	0	0	0	1	0	0	0	10476	69	3	5	345	5	NLRP14	11	7060994	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	162803	7060994	127945522	715	63677											
SYT9	143425	broad.mit.edu	37	chr11	7439233	7439233	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgatggcagacgactgaAgaagaggaaaacatccacca	12	8	0	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:7439233A>G	uc001mfe.2	+	5	1448	c.1211A>G	c.(1210-1212)AAG>AGG	p.K404R	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	404	Cytoplasmic (Potential).|C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		AGACGACTGAAGAAGAGGAAA	0.463													G	7439233	A	G	7439233	3	3	96	1	0	0	0	0	1	0	0	0	15478	72	3	3	1229	3	SYT9	11	7439233	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	378239	7439233	127567283	716	63678											
OLFML1	283298	broad.mit.edu	37	chr11	7509423	7509423	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaattccaagagttctcaaaAaatatatctgtcatgctggg	8	7	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:7509423A>T	uc001mfi.2	+	2	547	c.195A>T	c.(193-195)AAA>AAT	p.K65N	uc001mff.1_Intron|OLFML1_uc001mfh.1_Missense_Mutation_p.K65N|OLFML1_uc010raz.1_Intron|OLFML1_uc010rba.1_Missense_Mutation_p.K65N	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1 precursor	65						extracellular region				ovary(2)	2				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AGTTCTCAAAAAATATATCTG	0.423													T	7509423	A	T	7509423	3	4	96	1	0	0	0	0	1	0	0	0	10856	11	1	5	201	5	OLFML1	11	7509423	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	70190	7509423	127497093	717	63679											
OR10A6	390093	broad.mit.edu	37	chr11	7950098	7950098	+	Frame_Shift_Del	DEL	T	T	-													aatggcatttcctatcagggTcaccagataaataaccagga							TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:7950097_7950097GT>G	uc010rbh.2	-	0	113	c.113_113AC>C	c.(112-114)accfs	p.T38fs		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V37L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCCTATCAGGGTCACCAGATA	0.468													-	7950098	T	-	7950098	7	5	96	1	0	1	0	1	0	0	0	0	10894	1667	58	0	835	0	OR10A6	11	7950098	Frame_Shift_Del	DEL	T	TCGA-BR-8589-01A-11D-2394-08	440675	7950098	127056418	718	63680											
DENND5A	23258	broad.mit.edu	37	chr11	9225542	9225542	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgatgaggcagatgcacTtagagacgtagagagtgtcc	15	6	0	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:9225542T>C	uc001mhl.2	-	4	869	c.614A>G	c.(613-615)AAG>AGG	p.K205R	DENND5A_uc010rbw.1_Missense_Mutation_p.K205R|DENND5A_uc010rbx.1_RNA	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	205	DENN.									liver(1)	1						GCAGATGCACTTAGAGACGTA	0.547													C	9225542	T	C	9225542	3	2	96	1	0	0	0	0	1	0	0	0	4436	1609	56	3	3329	3	DENND5A	11	9225542	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1275444	9225542	125780974	719	63681											
IPO7	10527	broad.mit.edu	37	chr11	9446534	9446534	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acagcctgtagtaagaggaaAgaggtaggcttatttaatgt	12	4	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:9446534A>T	uc001mho.2	+	11	1357	c.1215A>T	c.(1213-1215)AAA>AAT	p.K405N		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	405					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GTAAGAGGAAAGAGGTAGGCT	0.303													T	9446534	A	T	9446534	3	4	96	1	0	0	0	0	1	0	0	0	7797	69	3	5	1257	5	IPO7	11	9446534	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	220992	9446534	125559982	720	63682											
ZNF143	7702	broad.mit.edu	37	chr11	9522759	9522759	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tattactgcacagagccaggAtgtgggagggcatttgccag	14	8	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:9522759A>C	uc001mhr.2	+	11	1207	c.1089A>C	c.(1087-1089)GGA>GGC	p.G363G	ZNF143_uc009yfu.2_Silent_p.G362G|ZNF143_uc010rby.1_Silent_p.G332G	NM_003442	NP_003433	P52747	ZN143_HUMAN	zinc finger protein 143	363	C2H2-type 5.				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding				0				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		CAGAGCCAGGATGTGGGAGGG	0.438													C	9522759	A	C	9522759	2	2	96	1	0	0	0	0	0	0	0	1	17729	320	12	5		5	ZNF143	11	9522759	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	76225	9522759	125483757	721	63683											
MRVI1	10335	broad.mit.edu	37	chr11	10622466	10622466	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggagcctaggtccttaccAgaggggccacagctgcggct	14	13	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:10622466A>T	uc010rcc.1	-	15	2402	c.2016T>A	c.(2014-2016)TCT>TCA	p.S672S	MRVI1_uc001miw.2_Silent_p.S663S|MRVI1_uc010rcb.1_Silent_p.S664S|MRVI1_uc009ygb.1_Silent_p.S357S|MRVI1_uc001mix.2_Silent_p.S357S|MRVI1_uc001miz.2_Silent_p.S581S|MRVI1_uc009ygc.1_Silent_p.S581S|MRVI1_uc010rcd.1_Silent_p.S466S|MRVI1_uc009ygd.1_Silent_p.S357S|MRVI1_uc010rce.1_RNA	NM_001100167	NP_001093637	Q9Y6F6	MRVI1_HUMAN	JAW1-related protein isoform c	645					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				ovary(2)|central_nervous_system(1)	3				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGTCCTTACCAGAGGGGCCAC	0.507													T	10622466	A	T	10622466	2	4	96	1	0	0	0	0	0	0	0	1	9853	202	7	5		5	MRVI1	11	10622466	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1099707	10622466	124384050	722	63684											
ARNTL	406	broad.mit.edu	37	chr11	13388329	13388329	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcggctcatagatgcaaaaAgtgagtaccagagaggcctc	12	9	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:13388329A>T	uc001mkr.2	+	11	1078	c.670A>T	c.(670-672)ACT>TCT	p.T224S	ARNTL_uc001mko.2_Missense_Mutation_p.T181S|ARNTL_uc001mkp.2_Missense_Mutation_p.T224S|ARNTL_uc001mkq.2_Missense_Mutation_p.T224S|ARNTL_uc001mks.2_Missense_Mutation_p.T181S|ARNTL_uc001mkt.2_Missense_Mutation_p.T224S|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Missense_Mutation_p.T181S|ARNTL_uc001mkv.1_Missense_Mutation_p.T181S|ARNTL_uc001mkw.2_Missense_Mutation_p.T181S|ARNTL_uc001mkx.2_Missense_Mutation_p.T222S	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	224					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0				Epithelial(150;0.0243)		AGATGCAAAAAGTGAGTACCA	0.557													T	13388329	A	T	13388329	3	4	96	1	0	0	0	0	1	0	0	0	967	86	3	5	711	5	ARNTL	11	13388329	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2765863	13388329	121618187	723	63685											
NAV2	89797	broad.mit.edu	37	chr11	19955499	19955499	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aataccaaaaccaggaatgaAaagcatgcccgggaaatccc	8	11	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:19955499A>T	uc010rdm.1	+	8	2139	c.1778A>T	c.(1777-1779)AAA>ATA	p.K593I	NAV2_uc001mpp.2_Missense_Mutation_p.K506I|NAV2_uc001mpr.3_Missense_Mutation_p.K570I	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	593						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						CCAGGAATGAAAAGCATGCCC	0.597													T	19955499	A	T	19955499	3	4	96	1	0	0	0	0	1	0	0	0	10184	14	1	5	1814	5	NAV2	11	19955499	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	6567170	19955499	115051017	724	63686											
SLC17A6	57084	broad.mit.edu	37	chr11	22396414	22396414	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaactacgacagtgagAaagatcatgaattgtggtgg	11	6	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:22396414A>T	uc001mqk.2	+	9	1568	c.1155A>T	c.(1153-1155)AGA>AGT	p.R385S		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	385	Cytoplasmic (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						CGACAGTGAGAAAGATCATGA	0.368													T	22396414	A	T	22396414	3	4	96	1	0	0	0	0	1	0	0	0	14421	243	9	5	1189	5	SLC17A6	11	22396414	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2440915	22396414	112610102	725	63687											
SLC5A12	159963	broad.mit.edu	37	chr11	26725161	26725161	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagattccgagccaagtaaaAgttcctcccactgtgatagt	8	10	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:26725161A>C	uc001mra.2	-	6	1051	c.738T>G	c.(736-738)ACT>ACG	p.T246T	SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Silent_p.T246T	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	246	Helical; (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)|skin(1)	2						GCCAAGTAAAAGTTCCTCCCA	0.413													C	26725161	A	C	26725161	2	2	96	1	0	0	0	0	0	0	0	1	14664	59	3	5		5	SLC5A12	11	26725161	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4328747	26725161	108281355	726	63688											
BDNF	627	broad.mit.edu	37	chr11	27679542	27679542	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagccttcttttgtgtaAcccatgggattgcacttggt	10	10	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:27679542A>C	uc010rdu.1	-	2	1421	c.570T>G	c.(568-570)GGT>GGG	p.G190G	BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_Intron|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_Intron|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_Intron|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_Intron|BDNFOS_uc009yip.2_Intron|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_Intron|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_Intron|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_Intron|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_Intron|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_Intron|BDNFOS_uc009yiz.2_Intron|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_Intron|BDNF_uc010rdv.1_Silent_p.G190G|BDNF_uc001mrt.2_Silent_p.G205G|BDNF_uc010rdw.1_Silent_p.G190G|BDNF_uc009yjd.2_Silent_p.G190G|BDNF_uc001mru.2_Silent_p.G190G|BDNF_uc010rdx.1_Silent_p.G190G|BDNF_uc010rdy.1_Silent_p.G190G|BDNF_uc009yjg.2_Silent_p.G190G|BDNF_uc009yje.2_Silent_p.G272G|BDNF_uc009yjf.2_Silent_p.G219G|BDNF_uc001mrv.2_Silent_p.G190G|BDNF_uc001mrw.3_Silent_p.G190G|BDNF_uc001mrx.2_Silent_p.G190G|BDNF_uc001mry.3_Silent_p.G190G|BDNF_uc001mrz.3_Silent_p.G190G|BDNF_uc001msa.2_Silent_p.G198G	NM_001143816	NP_001137288	P23560	BDNF_HUMAN	brain-derived neurotrophic factor isoform a	190						extracellular region	growth factor activity				0						CTTTTGTGTAACCCATGGGAT	0.517													C	27679542	A	C	27679542	2	2	96	1	0	0	0	0	0	0	0	1	1394	30	2	5		5	BDNF	11	27679542	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	954381	27679542	107326974	727	63689											
BDNF	627	broad.mit.edu	37	chr11	27679792	27679792	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtattcctccagcagaaagAgaagaggaggctccaaaggc	12	9	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:27679792A>G	uc010rdu.1	-	2	1171	c.320T>C	c.(319-321)CTC>CCC	p.L107P	BDNFOS_uc001mrm.2_RNA|BDNFOS_uc009yij.2_RNA|BDNFOS_uc009yik.2_RNA|BDNFOS_uc009yil.2_RNA|BDNFOS_uc001mrp.2_RNA|BDNFOS_uc009yim.2_RNA|BDNFOS_uc009yin.2_RNA|BDNFOS_uc009yio.2_RNA|BDNFOS_uc009yip.2_RNA|BDNFOS_uc001mrn.2_RNA|BDNFOS_uc009yiq.2_RNA|BDNFOS_uc001mro.2_RNA|BDNFOS_uc009yir.2_RNA|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_RNA|BDNFOS_uc009yiu.2_RNA|BDNFOS_uc009yiv.2_RNA|BDNFOS_uc009yiw.2_RNA|BDNFOS_uc009yix.2_RNA|BDNFOS_uc009yiy.2_RNA|BDNFOS_uc009yiz.2_RNA|BDNFOS_uc001mrq.3_RNA|BDNFOS_uc001mrr.3_RNA|BDNFOS_uc009yja.2_RNA|BDNFOS_uc009yjb.2_RNA|BDNF_uc010rdv.1_Missense_Mutation_p.L107P|BDNF_uc001mrt.2_Missense_Mutation_p.L122P|BDNF_uc010rdw.1_Missense_Mutation_p.L107P|BDNF_uc009yjd.2_Missense_Mutation_p.L107P|BDNF_uc001mru.2_Missense_Mutation_p.L107P|BDNF_uc010rdx.1_Missense_Mutation_p.L107P|BDNF_uc010rdy.1_Missense_Mutation_p.L107P|BDNF_uc009yjg.2_Missense_Mutation_p.L107P|BDNF_uc009yje.2_Missense_Mutation_p.L189P|BDNF_uc009yjf.2_Missense_Mutation_p.L136P|BDNF_uc001mrv.2_Missense_Mutation_p.L107P|BDNF_uc001mrw.3_Missense_Mutation_p.L107P|BDNF_uc001mrx.2_Missense_Mutation_p.L107P|BDNF_uc001mry.3_Missense_Mutation_p.L107P|BDNF_uc001mrz.3_Missense_Mutation_p.L107P|BDNF_uc001msa.2_Missense_Mutation_p.L115P	NM_001143816	NP_001137288	P23560	BDNF_HUMAN	brain-derived neurotrophic factor isoform a	107						extracellular region	growth factor activity				0						CAGCAGAAAGAGAAGAGGAGG	0.532													G	27679792	A	G	27679792	3	3	96	1	0	0	0	0	1	0	0	0	1394	304	11	3	427	3	BDNF	11	27679792	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	250	27679792	107326724	728	63690											
PAMR1	25891	broad.mit.edu	37	chr11	35547122	35547122	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccccaactgcgtccagcaAcccagctccatccttgccgc	7	20	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:35547122A>G	uc001mwg.2	-	1	55	c.12T>C	c.(10-12)GGT>GGC	p.G4G	PAMR1_uc001mwf.2_Silent_p.G4G|PAMR1_uc010rew.1_Silent_p.G4G|PAMR1_uc010rex.1_Intron	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	4					proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						GCGTCCAGCAACCCAGCTCCA	0.637													G	35547122	A	G	35547122	2	3	96	1	0	0	0	0	0	0	0	1	11413	30	2	3		3	PAMR1	11	35547122	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	7867330	35547122	99459394	729	63691											
SYT13	57586	broad.mit.edu	37	chr11	45265838	45265838	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acacggggttgatcttgtgcTtagctcgtttagtctgcttc	11	9	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:45265838T>G	uc001myq.2	-	6	1172	c.1046A>C	c.(1045-1047)AAG>ACG	p.K349T	SYT13_uc009yku.1_Missense_Mutation_p.K205T	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	349	C2 2.|Cytoplasmic (Potential).					transport vesicle				ovary(1)	1						GATCTTGTGCTTAGCTCGTTT	0.557													G	45265838	T	G	45265838	3	3	96	1	0	0	0	0	1	0	0	0	15466	1609	56	5	238	5	SYT13	11	45265838	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	9718716	45265838	89740678	730	63692											
AGBL2	79841	broad.mit.edu	37	chr11	47689161	47689161	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttaacttctgcatcaaatTttttttctgatactgctcat	3	9	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:47689161T>G	uc001ngg.2	-	15	2402	c.2302A>C	c.(2302-2304)AAT>CAT	p.N768H	AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.N730H	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	768					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						TGCATCAAATTTTTTTTCTGA	0.353													G	47689161	T	G	47689161	3	3	96	1	0	0	0	0	1	0	0	0	376	1841	64	5	422	5	AGBL2	11	47689161	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2423323	47689161	87317355	731	63693											
OR5D13	390142	broad.mit.edu	37	chr11	55541717	55541717	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttcctaatcctaaaacTtctagcctcatagttacagt	5	10	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:55541717T>G	uc010ril.1	+	1	804	c.804T>G	c.(802-804)ACT>ACG	p.T268T		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	268	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				ATCCTAAAACTTCTAGCCTCA	0.438													G	55541717	T	G	55541717	2	3	96	1	0	0	0	0	0	0	0	1	11154	1596	56	5		5	OR5D13	11	55541717	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	7852556	55541717	79464799	732	63694											
OR5D16	390144	broad.mit.edu	37	chr11	55606614	55606614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccactttgtggccatttgCaatcctctgctctacacagt	7	13	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:55606614C>T	uc010rio.1	+	1	387	c.387C>T	c.(385-387)TGC>TGT	p.C129C		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_epithelial(135;0.208)				TGGCCATTTGCAATCCTCTGC	0.463													T	55606614	C	T	55606614	2	4	96	1	0	0	0	0	0	0	0	1	11156	718	25	2		2	OR5D16	11	55606614	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	64897	55606614	79399902	733	63695											
SPRYD5	84767	broad.mit.edu	37	chr11	55658772	55658772	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttcacatctggcaaataTtattgggaggttcatatggg	11	6	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:55658772T>C	uc010rip.1	+	7	1115	c.1023T>C	c.(1021-1023)TAT>TAC	p.Y341Y	SPRYD5_uc010riq.1_Silent_p.Y198Y	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	341	B30.2/SPRY.					intracellular	zinc ion binding				0		all_epithelial(135;0.226)				CTGGCAAATATTATTGGGAGG	0.428													C	55658772	T	C	55658772	2	2	96	1	0	0	0	0	0	0	0	1	15110	1500	52	3		3	SPRYD5	11	55658772	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	52158	55658772	79347744	734	63696											
OR5M11	219487	broad.mit.edu	37	chr11	56309940	56309940	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttagattcctcaacagtcTtatctgttggtggtcttata	7	7	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:56309940T>G	uc010rjl.1	-	1	794	c.794A>C	c.(793-795)AAG>ACG	p.K265T		NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M,	265	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTCAACAGTCTTATCTGTTGG	0.418													G	56309940	T	G	56309940	3	3	96	1	0	0	0	0	1	0	0	0	11174	1609	56	5	126	5	OR5M11	11	56309940	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	651168	56309940	78696576	735	63697											
OR1S2	219958	broad.mit.edu	37	chr11	57971212	57971212	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgaacctggcccgcatgaAagttgtatagttcagagggt	13	9	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:57971212A>C	uc010rkb.1	-	1	442	c.442T>G	c.(442-444)TTC>GTC	p.F148V		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S,	148	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)				GCCCGCATGAAAGTTGTATAG	0.463													C	57971212	A	C	57971212	3	2	96	1	0	0	0	0	1	0	0	0	10973	14	1	5	538	5	OR1S2	11	57971212	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1661272	57971212	77035304	736	63698											
OR4D10	390197	broad.mit.edu	37	chr11	59244981	59244981	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcgggaagtgagcttagtcTtatttcttttcctactcttg	8	8	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:59244981T>G	uc001nnz.1	+	1	79	c.79T>G	c.(79-81)TTA>GTA	p.L27V		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D,	27	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						GAGCTTAGTCTTATTTCTTTT	0.433													G	59244981	T	G	59244981	3	3	96	1	0	0	0	0	1	0	0	0	11054	1606	56	5	81	5	OR4D10	11	59244981	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1273769	59244981	75761535	737	63699											
PATL1	219988	broad.mit.edu	37	chr11	59410351	59410351	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagttaaaagggcaagatcAccttgttctggagcacagca	12	8	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:59410351A>G	uc001noe.3	-	16	2192	c.2049_splice	c.e16+1	p.K683_splice		NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog						cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			ovary(1)	1						GGGCAAGATCACCTTGTTCTG	0.433													G	59410351	A	G	59410351	5	3	96	1	0	0	0	0	0	0	1	0	11475	173	6	3	277	3	PATL1	11	59410351	Splice_Site	SNP	A	TCGA-BR-8589-01A-11D-2394-08	165370	59410351	75596165	738	63700											
MS4A7	58475	broad.mit.edu	37	chr11	60152695	60152695	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatttttaggagctctgtgTgtgagtagaatggggactct	13	6	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:60152695T>C	uc001npe.2	+	3	427	c.282T>C	c.(280-282)TGT>TGC	p.C94C	MS4A7_uc001npf.2_Silent_p.C94C|MS4A7_uc001npg.2_Intron|MS4A7_uc001nph.2_Intron|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Intron	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member	94	Helical; (Potential).					integral to membrane	receptor activity			ovary(1)|central_nervous_system(1)	2						GAGCTCTGTGTGTGAGTAGAA	0.498													C	60152695	T	C	60152695	2	2	96	1	0	0	0	0	0	0	0	1	9866	1710	59	3		3	MS4A7	11	60152695	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	742344	60152695	74853821	739	63701											
AHNAK	79026	broad.mit.edu	37	chr11	62286461	62286461	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccacatctggcatcttgAccttgggagccttcgccttg	10	13	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:62286461A>C	uc001ntl.2	-	5	15728	c.15428T>G	c.(15427-15429)GTC>GGC	p.V5143G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	5143					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TGGCATCTTGACCTTGGGAGC	0.522													C	62286461	A	C	62286461	3	2	96	1	0	0	0	0	1	0	0	0	414	275	10	5	2364	5	AHNAK	11	62286461	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2133766	62286461	72720055	740	63702											
SLC22A9	114571	broad.mit.edu	37	chr11	63175638	63175638	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcttaggagcgtctgctcTtgccaatacccttgcttttg	11	11	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:63175638T>C	uc001nww.2	+	8	1611	c.1343T>C	c.(1342-1344)CTT>CCT	p.L448P	SLC22A9_uc001nwx.2_Intron	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion/cation	448	Helical; (Potential).				transmembrane transport	integral to membrane				breast(2)|large_intestine(1)	3						GCGTCTGCTCTTGCCAATACC	0.478													C	63175638	T	C	63175638	3	2	96	1	0	0	0	0	1	0	0	0	14461	1609	56	3	1373	3	SLC22A9	11	63175638	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	889177	63175638	71830878	741	63703											
SLC22A9	114571	broad.mit.edu	37	chr11	63177296	63177296	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagaccccagagaaccaAagcaagaggatccgagagtg	12	9	0	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:63177296A>C	uc001nww.2	+	10	1892	c.1624A>C	c.(1624-1626)AAG>CAG	p.K542Q	SLC22A9_uc001nwx.2_RNA	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion/cation	542	Cytoplasmic (Potential).				transmembrane transport	integral to membrane				breast(2)|large_intestine(1)	3						CAGAGAACCAAAGCAAGAGGA	0.423													C	63177296	A	C	63177296	3	2	96	1	0	0	0	0	1	0	0	0	14461	15	1	5	1662	5	SLC22A9	11	63177296	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1658	63177296	71829220	742	63704											
RTN3	10313	broad.mit.edu	37	chr11	63487765	63487765	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttagaagatgtgagtgaAgttgctcctgaaaagcctat	10	7	0	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:63487765A>C	uc001nxq.2	+	3	1978	c.1791A>C	c.(1789-1791)GAA>GAC	p.E597D	RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Missense_Mutation_p.E578D|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Missense_Mutation_p.E485D|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	597					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1						ATGTGAGTGAAGTTGCTCCTG	0.408													C	63487765	A	C	63487765	3	2	96	1	0	0	0	0	1	0	0	0	13727	69	3	5	1801	5	RTN3	11	63487765	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	310469	63487765	71518751	743	63705											
CATSPER1	117144	broad.mit.edu	37	chr11	65792743	65792743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtgacacgtgagcggaTtgtgctggaggaccgagtca	17	8	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:65792743T>C	uc001ogt.2	-	1	1246	c.1108A>G	c.(1108-1110)ATC>GTC	p.I370V		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	370	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2						CGTGAGCGGATTGTGCTGGAG	0.552													C	65792743	T	C	65792743	3	2	96	1	0	0	0	0	1	0	0	0	2687	1493	52	3	1282	3	CATSPER1	11	65792743	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2304978	65792743	69213773	744	63706											
B3GNT1	11041	broad.mit.edu	37	chr11	66113626	66113626	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccttttggggatggaacTtcaacgcttctttgaagccc	9	12	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:66113626T>G	uc001ohr.2	-	2	1287	c.1142A>C	c.(1141-1143)AAG>ACG	p.K381T	BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank	NM_006876	NP_006867	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal	381	Lumenal (Potential).				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity				0						GGGATGGAACTTCAACGCTTC	0.502													G	66113626	T	G	66113626	3	3	96	1	0	0	0	0	1	0	0	0	1256	1609	56	5	109	5	B3GNT1	11	66113626	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	320883	66113626	68892890	745	63707											
CTSF	8722	broad.mit.edu	37	chr11	66333365	66333365	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctggccctccacattgcctgTgactgagaaggcccagcagg	12	14	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:66333365T>A	uc001oip.2	-	7	991	c.901A>T	c.(901-903)ACA>TCA	p.T301S		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	cathepsin F precursor	301					proteolysis	lysosome	cysteine-type endopeptidase activity				0						ACATTGCCTGTGACTGAGAAG	0.612													A	66333365	T	A	66333365	3	1	96	1	0	0	0	0	1	0	0	0	4034	1696	59	5	581	5	CTSF	11	66333365	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	219739	66333365	68673151	746	63708											
ALDH3B1	221	broad.mit.edu	37	chr11	67789236	67789236	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccccagagctccccaaaccTgggccgcatcatcaaccaga	7	19	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:67789236T>G	uc010rpy.1	+	8	961	c.845T>G	c.(844-846)CTG>CGG	p.L282R	ALDH3B1_uc001omz.2_Missense_Mutation_p.L282R|ALDH3B1_uc001ona.2_Missense_Mutation_p.L245R|ALDH3B1_uc001onb.2_RNA	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3B1 isoform a	282					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase				0					NADH(DB00157)	TCCCCAAACCTGGGCCGCATC	0.627											OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	67789236	T	G	67789236	3	3	96	1	0	0	0	0	1	0	0	0	499	1580	55	5	866	5	ALDH3B1	11	67789236	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1455871	67789236	67217280	747	63709											
CTTN	2017	broad.mit.edu	37	chr11	70279801	70279801	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatctggggatcacagccgTcgccctgtacgactaccagg	12	14	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:70279801T>C	uc001opv.3	+	17	1699	c.1493T>C	c.(1492-1494)GTC>GCC	p.V498A	CTTN_uc001opu.2_Missense_Mutation_p.V461A|CTTN_uc001opw.3_Missense_Mutation_p.V461A|CTTN_uc010rqm.1_Missense_Mutation_p.V182A|CTTN_uc001opx.2_Missense_Mutation_p.V182A	NM_005231	NP_005222	Q14247	SRC8_HUMAN	cortactin isoform a	498	SH3.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		ATCACAGCCGTCGCCCTGTAC	0.547													C	70279801	T	C	70279801	3	2	96	1	0	0	0	0	1	0	0	0	4044	1667	58	3	1551	3	CTTN	11	70279801	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2490565	70279801	64726715	748	63710											
KRTAP5-9	3846	broad.mit.edu	37	chr11	71260091	71260091	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcctgctgccaatccagcTgctgcaagccctgctgctca	8	17	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:71260091T>G	uc001oqs.1	+	1	626	c.388T>G	c.(388-390)TGC>GGC	p.C130G		NM_005553	NP_005544	P26371	KRA59_HUMAN	keratin associated protein 5-9	130	8 X 4 AA repeats of C-C-X-P.|6.				epidermis development	keratin filament					0						CCAATCCAGCTGCTGCAAGCC	0.627													G	71260091	T	G	71260091	3	3	96	1	0	0	0	0	1	0	0	0	8568	1580	55	5	390	5	KRTAP5-9	11	71260091	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	980290	71260091	63746425	749	63711											
FOLR3	2352	broad.mit.edu	37	chr11	71850819	71850819	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgaggaggtggccaagTtctatgctgcggccatgaat	13	9	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:71850819T>G	uc001ory.1	+	5	858	c.808T>G	c.(808-810)TTC>GTC	p.F270V	FOLR3_uc001orx.1_Missense_Mutation_p.F228V			P41439	FOLR3_HUMAN	SubName: Full=FOLR3 protein; Flags: Fragment;	226					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity				0					Folic Acid(DB00158)	GGTGGCCAAGTTCTATGCTGC	0.547													G	71850819	T	G	71850819	3	3	96	1	0	0	0	0	1	0	0	0	5983	1725	60	5	694	5	FOLR3	11	71850819	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	590728	71850819	63155697	750	63712											
C2CD3	26005	broad.mit.edu	37	chr11	73785595	73785595	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaccacatgaactcgcaAggcagctcctgagaggttgg	12	10	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:73785595A>C	uc001ouu.2	-	24	4881	c.4654T>G	c.(4654-4656)TTG>GTG	p.L1552V	C2CD3_uc001out.2_RNA	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1552						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					TGAACTCGCAAGGCAGCTCCT	0.502													C	73785595	A	C	73785595	3	2	96	1	0	0	0	0	1	0	0	0	2154	69	3	5	1269	5	C2CD3	11	73785595	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1934776	73785595	61220921	751	63713											
P4HA3	283208	broad.mit.edu	37	chr11	73996867	73996867	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactcacccatggttctgcaAgttctctaattttctgagcc	6	13	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:73996867A>G	uc001ouz.2	-	7	1140	c.1097T>C	c.(1096-1098)CTT>CCT	p.L366P	P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Missense_Mutation_p.L366P	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha III subunit	366						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			skin(1)	1	Breast(11;2.31e-05)					TGGTTCTGCAAGTTCTCTAAT	0.498													G	73996867	A	G	73996867	3	3	96	1	0	0	0	0	1	0	0	0	11358	72	3	3	565	3	P4HA3	11	73996867	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	211272	73996867	61009649	752	63714											
PGM2L1	283209	broad.mit.edu	37	chr11	74058298	74058298	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcttaaaaccaaacacTttaaaagccaactgcacata	6	10	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:74058298T>C	uc001ovb.1	-	7	1130	c.834A>G	c.(832-834)AAA>AAG	p.K278K		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	278					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			ovary(1)	1	Breast(11;3.32e-06)					AACCAAACACTTTAAAAGCCA	0.403													C	74058298	T	C	74058298	2	2	96	1	0	0	0	0	0	0	0	1	11799	1606	56	3		3	PGM2L1	11	74058298	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	61431	74058298	60948218	753	63715											
NEU3	10825	broad.mit.edu	37	chr11	74717517	74717517	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagccctggtaggaacccaAgccaattcaaaagcaattaa	7	12	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:74717517A>G	uc001ovw.2	+	3	1522	c.1366A>G	c.(1366-1368)AGC>GGC	p.S456G	NEU3_uc001ovv.2_Missense_Mutation_p.S446G|NEU3_uc010rrl.1_Missense_Mutation_p.S347G|uc010rrm.1_5'Flank|uc001ovx.1_5'Flank	NM_006656	NP_006647	A8K327	A8K327_HUMAN	sialidase 3	456										ovary(2)	2						TAGGAACCCAAGCCAATTCAA	0.483													G	74717517	A	G	74717517	3	3	96	1	0	0	0	0	1	0	0	0	10343	72	3	3	1376	3	NEU3	11	74717517	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	659219	74717517	60288999	754	63716											
MYO7A	4647	broad.mit.edu	37	chr11	76917198	76917198	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaggccatccagcacaAgaccacccagattttccaca	9	14	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:76917198A>T	uc001oyb.2	+	41	5965	c.5693A>T	c.(5692-5694)AAG>ATG	p.K1898M	MYO7A_uc001oyc.2_Missense_Mutation_p.K1860M|MYO7A_uc001oye.2_RNA	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1898					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						ATCCAGCACAAGACCACCCAG	0.542													T	76917198	A	T	76917198	3	4	96	1	0	0	0	0	1	0	0	0	10082	72	3	5	5885	5	MYO7A	11	76917198	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2199681	76917198	58089318	755	63717											
CLNS1A	1207	broad.mit.edu	37	chr11	77336835	77336835	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcactgtcttcctcttcTtcatcagcaacaggttcttt	4	13	8	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:77336835T>G	uc001oyk.2	-	3	383	c.291A>C	c.(289-291)GAA>GAC	p.E97D	CLNS1A_uc001oyl.2_Intron	NM_001293	NP_001284	P54105	ICLN_HUMAN	chloride channel, nucleotide-sensitive, 1A	97					blood circulation|cell volume homeostasis|chloride transport|ncRNA metabolic process|spliceosomal snRNP assembly	cytoskeleton|cytosol|nucleus|plasma membrane	protein binding			ovary(1)	1	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			CTTCCTCTTCTTCATCAGCAA	0.308													G	77336835	T	G	77336835	3	3	96	1	0	0	0	0	1	0	0	0	3548	1606	56	5	438	5	CLNS1A	11	77336835	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	419637	77336835	57669681	756	63718											
ODZ4	26011	broad.mit.edu	37	chr11	78380755	78380755	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgtagctgtagcgccagAgtggcttgtcattgatggag	16	7	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:78380755A>G	uc001ozl.3	-	32	7098	c.6635T>C	c.(6634-6636)CTC>CCC	p.L2212P	ODZ4_uc001ozk.3_Missense_Mutation_p.L437P|ODZ4_uc009yvb.1_Missense_Mutation_p.L796P	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2212	Extracellular (Potential).|YD 18.				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GTAGCGCCAGAGTGGCTTGTC	0.557													G	78380755	A	G	78380755	3	3	96	1	0	0	0	0	1	0	0	0	10837	304	11	3	1686	3	ODZ4	11	78380755	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1043920	78380755	56625761	757	63719											
ODZ4	26011	broad.mit.edu	37	chr11	78381295	78381295	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgtctcgtcataggtgAaactgaccttggtggtgtca	12	10	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:78381295A>C	uc001ozl.3	-	32	6558	c.6095T>G	c.(6094-6096)TTC>TGC	p.F2032C	ODZ4_uc001ozk.3_Missense_Mutation_p.F257C|ODZ4_uc009yvb.1_Missense_Mutation_p.F616C	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2032	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GTCATAGGTGAAACTGACCTT	0.537													C	78381295	A	C	78381295	3	2	96	1	0	0	0	0	1	0	0	0	10837	246	9	5	2226	5	ODZ4	11	78381295	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	540	78381295	56625221	758	63720											
ODZ4	26011	broad.mit.edu	37	chr11	78413446	78413446	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgggccactccaggtgAacctgacaatgaagacaccg	11	12	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:78413446A>C	uc001ozl.3	-	28	4675	c.4212T>G	c.(4210-4212)GTT>GTG	p.V1404V	ODZ4_uc009yvb.1_5'UTR	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1404	Extracellular (Potential).|NHL 4.				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						ACTCCAGGTGAACCTGACAAT	0.418													C	78413446	A	C	78413446	2	2	96	1	0	0	0	0	0	0	0	1	10837	233	9	5		5	ODZ4	11	78413446	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	32151	78413446	56593070	759	63721											
CCDC81	60494	broad.mit.edu	37	chr11	86111788	86111788	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagtgacaaatgtcagcTtgctggaaaagtttgaacga	10	7	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:86111788T>A	uc001pbx.1	+	7	1254	c.826T>A	c.(826-828)TTG>ATG	p.L276M	CCDC81_uc001pbw.1_Missense_Mutation_p.L186M|CCDC81_uc010rtq.1_Missense_Mutation_p.L59M|CCDC81_uc001pby.1_Missense_Mutation_p.L59M	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81 isoform 1	276										skin(1)	1		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				AAATGTCAGCTTGCTGGAAAA	0.368													A	86111788	T	A	86111788	3	1	96	1	0	0	0	0	1	0	0	0	2855	1606	56	5	852	5	CCDC81	11	86111788	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	7698342	86111788	48894728	760	63722											
FAT3	120114	broad.mit.edu	37	chr11	92088050	92088050	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagttgtcactcttaaagtTtttttagatgatgtcaatga	7	5	4	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:92088050T>G	uc001pdj.3	+	1	2789	c.2772T>G	c.(2770-2772)GTT>GTG	p.V924V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	924	Cadherin 8.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTCTTAAAGTTTTTTTAGATG	0.443										TCGA Ovarian(4;0.039)			G	92088050	T	G	92088050	2	3	96	1	0	0	0	0	0	0	0	1	5691	1828	64	5		5	FAT3	11	92088050	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5976262	92088050	42918466	761	63723											
PIWIL4	143689	broad.mit.edu	37	chr11	94308224	94308224	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggaaagaggtgtgaaaAacaaacaggactttatggat	11	4	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:94308224A>C	uc001pfa.2	+	3	437	c.226A>C	c.(226-228)AAC>CAC	p.N76H	PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	76					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			skin(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGGTGTGAAAAACAAACAGGA	0.343													C	94308224	A	C	94308224	3	2	96	1	0	0	0	0	1	0	0	0	11960	14	1	5	236	5	PIWIL4	11	94308224	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2220174	94308224	40698292	762	63724											
SESN3	143686	broad.mit.edu	37	chr11	94918633	94918633	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttcaggcagagaccaattAttttctccagttttgacaag	8	8	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:94918633A>C	uc001pfk.1	-	5	771	c.549T>G	c.(547-549)AAT>AAG	p.N183K	SESN3_uc010rug.1_Missense_Mutation_p.N44K|SESN3_uc001pfl.2_Missense_Mutation_p.N183K	NM_144665	NP_653266	P58005	SESN3_HUMAN	sestrin 3	183					cell cycle arrest	nucleus					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		GAGACCAATTATTTTCTCCAG	0.363													C	94918633	A	C	94918633	3	2	96	1	0	0	0	0	1	0	0	0	14126	446	16	5	953	5	SESN3	11	94918633	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	610409	94918633	40087883	763	63725											
TRPC6	7225	broad.mit.edu	37	chr11	101375353	101375353	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggcattcttctaacatcTtccgcaccactgggatgtta	8	11	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:101375353T>G	uc001pgk.3	-	2	772	c.347A>C	c.(346-348)AAG>ACG	p.K116T	TRPC6_uc009ywy.2_Missense_Mutation_p.K116T|TRPC6_uc009ywz.1_Missense_Mutation_p.K116T	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	116	Cytoplasmic (Potential).|ANK 1.				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTCTAACATCTTCCGCACCAC	0.468													G	101375353	T	G	101375353	3	3	96	1	0	0	0	0	1	0	0	0	16580	1609	56	5	2496	5	TRPC6	11	101375353	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	6456720	101375353	33631163	764	63726											
C11orf70	85016	broad.mit.edu	37	chr11	101953825	101953825	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgctggtatgtgctatccTtcagcaaagaatcatgaaca	8	9	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:101953825T>G	uc001pgp.2	+	7	727	c.699T>G	c.(697-699)CCT>CCG	p.P233P	C11orf70_uc001pgq.2_Silent_p.P195P	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	hypothetical protein LOC85016	233										skin(1)	1	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		TGTGCTATCCTTCAGCAAAGA	0.279													G	101953825	T	G	101953825	2	3	96	1	0	0	0	0	0	0	0	1	1659	1596	56	5		5	C11orf70	11	101953825	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	578472	101953825	33052691	765	63727											
MMP27	64066	broad.mit.edu	37	chr11	102573756	102573756	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctttgaaatcttggtgaaTtttagtggagtgactttgct	10	6	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:102573756T>G	uc001phd.1	-	3	458	c.435A>C	c.(433-435)AAA>AAC	p.K145N		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	matrix metalloproteinase 27 precursor	145					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TCTTGGTGAATTTTAGTGGAG	0.403													G	102573756	T	G	102573756	3	3	96	1	0	0	0	0	1	0	0	0	9664	1490	52	5	1138	5	MMP27	11	102573756	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	619931	102573756	32432760	766	63728											
MMP12	4321	broad.mit.edu	37	chr11	102742578	102742578	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagccatgcctgtgttaAtcttgctgaatttcaagggg	11	8	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:102742578A>T	uc001phk.2	-	3	500	c.455T>A	c.(454-456)ATT>AAT	p.I152N		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	152					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GCCTGTGTTAATCTTGCTGAA	0.413													T	102742578	A	T	102742578	3	4	96	1	0	0	0	0	1	0	0	0	9651	101	4	5	988	5	MMP12	11	102742578	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	168822	102742578	32263938	767	63729											
DYNC2H1	79659	broad.mit.edu	37	chr11	103058252	103058252	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agacttgttctgtacttaaaAgatatcaacctacctaaact	4	9	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:103058252A>C	uc001pho.2	+	43	7221	c.7077A>C	c.(7075-7077)AAA>AAC	p.K2359N	DYNC2H1_uc001phn.1_Missense_Mutation_p.K2359N|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2359	AAA 3 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGTACTTAAAAGATATCAACC	0.383													C	103058252	A	C	103058252	3	2	96	1	0	0	0	0	1	0	0	0	4846	69	3	5	7247	5	DYNC2H1	11	103058252	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	315674	103058252	31948264	768	63730											
CARD17	440068	broad.mit.edu	37	chr11	104971470	104971470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtaccttcgcccactgaaCggataaactgctttctcttc	6	13	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:104971470C>T	uc001pir.1	-	2	61	c.44G>A	c.(43-45)CGT>CAT	p.R15H	CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron	NM_001007232	NP_001007233	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	15	CARD.				proteolysis|regulation of apoptosis	cytoplasm	cysteine-type endopeptidase activity|cysteine-type endopeptidase inhibitor activity			ovary(1)	1						GCCCACTGAACGGATAAACTG	0.428													T	104971470	C	T	104971470	3	4	96	1	0	0	0	0	1	0	0	0	2648	536	19	1	296	1	CARD17	11	104971470	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	1913218	104971470	30035046	769	63731											
EXPH5	23086	broad.mit.edu	37	chr11	108380425	108380425	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actactgggagaatttgagcTtaatgactctgaggggttgg	14	5	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:108380425T>C	uc001pkk.2	-	6	5920	c.5809A>G	c.(5809-5811)AGC>GGC	p.S1937G	EXPH5_uc010rvy.1_Missense_Mutation_p.S1749G|EXPH5_uc010rvz.1_Missense_Mutation_p.S1781G|EXPH5_uc010rwa.1_Missense_Mutation_p.S1861G	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	1937					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GAATTTGAGCTTAATGACTCT	0.438													C	108380425	T	C	108380425	3	2	96	1	0	0	0	0	1	0	0	0	5322	1609	56	3	164	3	EXPH5	11	108380425	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3408955	108380425	26626091	770	63732											
DDX10	1662	broad.mit.edu	37	chr11	108559688	108559688	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccactttggaacagaacTacatagtctgtgagctgcag	10	10	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:108559688T>G	uc001pkm.2	+	7	939	c.874T>G	c.(874-876)TAC>GAC	p.Y292D	DDX10_uc001pkl.1_Missense_Mutation_p.Y292D	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	292	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|lung(1)|prostate(1)	4		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GGAACAGAACTACATAGTCTG	0.373			T	NUP98	AML*								G	108559688	T	G	108559688	3	3	96	1	0	0	0	0	1	0	0	0	4342	1522	53	5	900	5	DDX10	11	108559688	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	179263	108559688	26446828	771	63733											
LAYN	143903	broad.mit.edu	37	chr11	111431129	111431129	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgagttctccccagaccaAatggggaggagtaaggagtc	13	8	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:111431129A>C	uc001plr.1	+	8	1431	c.1095A>C	c.(1093-1095)CAA>CAC	p.Q365H	LAYN_uc001plp.1_Missense_Mutation_p.Q357H|LAYN_uc001plq.1_3'UTR|LAYN_uc001pls.1_3'UTR|LAYN_uc010rwg.1_Missense_Mutation_p.Q212H|LAYN_uc010rwh.1_Missense_Mutation_p.Q213H	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	layilin	365	Cytoplasmic (Potential).|3 X 5 AA repeats of E-S-G-X-V.|Interaction with NF2 (By similarity).|2 X 4 AA repeats of N-X-I-Y.|Interaction with TLN1 (By similarity).					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding				0		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		CCCCAGACCAAATGGGGAGGA	0.408													C	111431129	A	C	111431129	3	2	96	1	0	0	0	0	1	0	0	0	8649	11	1	5	1097	5	LAYN	11	111431129	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2871441	111431129	23575387	772	63734											
DIXDC1	85458	broad.mit.edu	37	chr11	111856042	111856042	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcaatcccgaggaacaActggtgagctccatcttttg	11	10	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:111856042A>C	uc001pml.2	+	9	1302	c.1005A>C	c.(1003-1005)CAA>CAC	p.Q335H	DIXDC1_uc001pmm.2_Missense_Mutation_p.Q124H|DIXDC1_uc001pmn.2_Missense_Mutation_p.Q41H	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	335	Potential.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			ovary(1)	1		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CCGAGGAACAACTGGTGAGCT	0.343													C	111856042	A	C	111856042	3	2	96	1	0	0	0	0	1	0	0	0	4541	40	2	5	1061	5	DIXDC1	11	111856042	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	424913	111856042	23150474	773	63735											
FAM55A	120400	broad.mit.edu	37	chr11	114392898	114392898	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtgcatctccctgatgTtttctgtcttaataatcact	5	10	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:114392898T>G	uc001ppa.2	-	6	1427	c.1010A>C	c.(1009-1011)AAC>ACC	p.N337T	FAM55A_uc010rxd.1_Missense_Mutation_p.N186T	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	479						extracellular region					0		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		CTCCCTGATGTTTTCTGTCTT	0.413													G	114392898	T	G	114392898	3	3	96	1	0	0	0	0	1	0	0	0	5584	1725	60	5	211	5	FAM55A	11	114392898	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2536856	114392898	20613618	774	63736											
APOA1	335	broad.mit.edu	37	chr11	116706799	116706799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgcgtccacatgggcgcGcgcgcggtcgcgcatctcct	14	17	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:116706799G>A	uc001ppu.1	-	4	608	c.529C>T	c.(529-531)CGC>TGC	p.R177C	APOA1_uc001ppv.1_Missense_Mutation_p.R177C	NM_000039	NP_000030	P02647	APOA1_HUMAN	apolipoprotein A-I preproprotein	177	6.|10 X approximate tandem repeats.				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding				0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		ACATGGGCGCGCGCGCGGTCG	0.716													A	116706799	G	A	116706799	3	1	96	1	0	0	0	0	1	0	0	0	780	1087	38	1	278	1	APOA1	11	116706799	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	2313901	116706799	18299717	775	63737											
SIDT2	51092	broad.mit.edu	37	chr11	117060709	117060709	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggacatctgctactacaaCttcctctgcgcccacccact	5	18	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:117060709C>T	uc001pqh.1	+	16	1502	c.1461C>T	c.(1459-1461)AAC>AAT	p.N487N	SIDT2_uc010rxe.1_Silent_p.N487N|SIDT2_uc001pqg.2_Silent_p.N508N|SIDT2_uc001pqi.1_Silent_p.N484N|SIDT2_uc001pqj.1_5'Flank	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	487	Extracellular (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GCTACTACAACTTCCTCTGCG	0.622													T	117060709	C	T	117060709	2	4	96	1	0	0	0	0	0	0	0	1	14303	564	20	4		4	SIDT2	11	117060709	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	353910	117060709	17945807	776	63738											
DSCAML1	57453	broad.mit.edu	37	chr11	117389449	117389449	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggttgaccaccttctcgctGaaggacgagacgatgcgggg	16	10	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:117389449G>A	uc001prh.1	-	7	1424	c.1422C>T	c.(1420-1422)TTC>TTT	p.F474F	DSCAML1_uc001pri.1_Silent_p.F278F	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	414	Extracellular (Potential).|Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCTTCTCGCTGAAGGACGAGA	0.682													A	117389449	G	A	117389449	2	1	96	1	0	0	0	0	0	0	0	1	4769	1281	45	4		4	DSCAML1	11	117389449	Silent	SNP	G	TCGA-BR-8589-01A-11D-2394-08	328740	117389449	17617067	777	63739											
DSCAML1	57453	broad.mit.edu	37	chr11	117391952	117391952	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggtgatgagcagcgtcTcgttgctgagcccgcggatg	16	11	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:117391952T>A	uc001prh.1	-	6	1288	c.1286A>T	c.(1285-1287)GAG>GTG	p.E429V	DSCAML1_uc001pri.1_Missense_Mutation_p.E233V	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	369	Extracellular (Potential).|Ig-like C2-type 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GAGCAGCGTCTCGTTGCTGAG	0.637													A	117391952	T	A	117391952	3	1	96	1	0	0	0	0	1	0	0	0	4769	1551	54	5	5167	5	DSCAML1	11	117391952	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2503	117391952	17614564	778	63740											
TBCEL	219899	broad.mit.edu	37	chr11	120957516	120957516	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgatcactaaatatgggaAgttggagcctttggcagaag	12	6	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:120957516A>C	uc009zay.2	+	8	1064	c.986A>C	c.(985-987)AAG>ACG	p.K329T	TBCEL_uc001pxo.2_Missense_Mutation_p.K329T|TBCEL_uc001pxp.2_Missense_Mutation_p.K185T|TBCEL_uc001pxq.2_RNA	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	329						cytoplasm|cytoskeleton				skin(1)	1		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		AAATATGGGAAGTTGGAGCCT	0.433													C	120957516	A	C	120957516	3	2	96	1	0	0	0	0	1	0	0	0	15632	72	3	5	1012	5	TBCEL	11	120957516	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3565564	120957516	14049000	779	63741											
TECTA	7007	broad.mit.edu	37	chr11	121039448	121039448	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccaagatggctctctacaAaaacgcctcctacaaacatc	4	15	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:121039448A>G	uc010rzo.1	+	19	5813	c.5813A>G	c.(5812-5814)AAA>AGA	p.K1938R		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1938	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCTCTCTACAAAAACGCCTCC	0.458													G	121039448	A	G	121039448	3	3	96	1	0	0	0	0	1	0	0	0	15744	14	1	3	5887	3	TECTA	11	121039448	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	81932	121039448	13967068	780	63742											
OR6T1	219874	broad.mit.edu	37	chr11	123814347	123814347	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacagctccaggaaggAgaaattccgcaggaagaagt	12	9	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:123814347A>G	uc010sab.1	-	1	199	c.199T>C	c.(199-201)TCC>CCC	p.S67P		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCCAGGAAGGAGAAATTCCGC	0.493													G	123814347	A	G	123814347	3	3	96	1	0	0	0	0	1	0	0	0	11210	304	11	3	775	3	OR6T1	11	123814347	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2774899	123814347	11192169	781	63743											
SLC37A2	219855	broad.mit.edu	37	chr11	124952150	124952150	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactccccagggcgtggtcgAgttctctctgtgtctgctgt	12	13	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:124952150A>G	uc001qbn.2	+	10	1147	c.896A>G	c.(895-897)GAG>GGG	p.E299G	SLC37A2_uc010sau.1_Missense_Mutation_p.E299G|SLC37A2_uc010sav.1_5'Flank|SLC37A2_uc001qbp.2_5'Flank	NM_001145290	NP_001138762	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glycerol-3-phosphate	299					carbohydrate transport|transmembrane transport	integral to membrane				ovary(2)	2	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		GGCGTGGTCGAGTTCTCTCTG	0.468													G	124952150	A	G	124952150	3	3	96	1	0	0	0	0	1	0	0	0	14598	304	11	3	934	3	SLC37A2	11	124952150	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1137803	124952150	10054366	782	63744											
HYLS1	219844	broad.mit.edu	37	chr11	125769999	125769999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgtccgagagcagatgCtttgtcgagcagaaccccaa	14	10	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:125769999C>T	uc009zbv.2	+	4	1270	c.736C>T	c.(736-738)CTT>TTT	p.L246F	HYLS1_uc001qcx.3_Missense_Mutation_p.L246F|PUS3_uc001qcy.2_Intron	NM_145014	NP_659451	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	246						centrosome|nucleus				upper_aerodigestive_tract(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		AGAGCAGATGCTTTGTCGAGC	0.468													T	125769999	C	T	125769999	3	4	96	1	0	0	0	0	1	0	0	0	7469	797	28	2	738	2	HYLS1	11	125769999	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	817849	125769999	9236517	783	63745											
ARHGAP32	9743	broad.mit.edu	37	chr11	128842931	128842931	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccctgttaagtctacttggTgatgttgctccccagattca	8	11	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:128842931T>C	uc009zcp.2	-	21	3428	c.3428A>G	c.(3427-3429)CAC>CGC	p.H1143R	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.H102R|ARHGAP32_uc001qez.2_Missense_Mutation_p.H794R	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1143					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						GTCTACTTGGTGATGTTGCTC	0.463													C	128842931	T	C	128842931	3	2	96	1	0	0	0	0	1	0	0	0	881	1696	59	3	2843	3	ARHGAP32	11	128842931	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3072932	128842931	6163585	784	63746											
BARX2	8538	broad.mit.edu	37	chr11	129321257	129321257	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaccagacccgccccaggAgttgccaataccctcttcgg	9	18	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:129321257A>C	uc001qfc.3	+	4	850	c.800A>C	c.(799-801)GAG>GCG	p.E267A		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	BarH-like homeobox 2	267											0	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CCGCCCCAGGAGTTGCCAATA	0.567													C	129321257	A	C	129321257	3	2	96	1	0	0	0	0	1	0	0	0	1316	304	11	5	814	5	BARX2	11	129321257	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	478326	129321257	5685259	785	63747											
TMEM45B	120224	broad.mit.edu	37	chr11	129727278	129727278	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgatgccaacctcatgtTcatcaccatgtgcttctgct	8	12	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:129727278T>G	uc001qfe.1	+	5	702	c.641T>G	c.(640-642)TTC>TGC	p.F214C	TMEM45B_uc001qff.1_Missense_Mutation_p.F214C	NM_138788	NP_620143	Q96B21	TM45B_HUMAN	transmembrane protein 45B	214	Helical; (Potential).					integral to membrane					0	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		AACCTCATGTTCATCACCATG	0.493													G	129727278	T	G	129727278	3	3	96	1	0	0	0	0	1	0	0	0	16167	1783	62	5	655	5	TMEM45B	11	129727278	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	406021	129727278	5279238	786	63748											
ZBTB44	29068	broad.mit.edu	37	chr11	130131610	130131610	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttggtgcgaaagaaatcActgcaagctgctagtaccac	10	9	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:130131610A>C	uc001qga.2	-	2	553	c.159T>G	c.(157-159)AGT>AGG	p.S53R	ZBTB44_uc001qgb.3_Missense_Mutation_p.S53R|ZBTB44_uc001qfx.2_RNA|ZBTB44_uc001qgc.1_Missense_Mutation_p.S53R|ZBTB44_uc001qfz.2_Missense_Mutation_p.S53R	NM_014155	NP_054874	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	53	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		GAAAGAAATCACTGCAAGCTG	0.428													C	130131610	A	C	130131610	3	2	96	1	0	0	0	0	1	0	0	0	17542	156	6	5	1222	5	ZBTB44	11	130131610	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	404332	130131610	4874906	787	63749											
NCAPD3	23310	broad.mit.edu	37	chr11	134026966	134026966	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcaatctcgccattcgacTcttgctccaaactgtatgaa	6	13	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr11:134026966T>C	uc001qhd.1	-	32	4805	c.4199A>G	c.(4198-4200)GAG>GGG	p.E1400G	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Missense_Mutation_p.E350G	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1400					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GCCATTCGACTCTTGCTCCAA	0.498													C	134026966	T	C	134026966	3	2	96	1	0	0	0	0	1	0	0	0	10206	1551	54	3	313	3	NCAPD3	11	134026966	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3895356	134026966	979550	788	63750											
KDM5A	5927	broad.mit.edu	37	chr12	461399	461399	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatattaaaataatcagacTtaaaattatctgccatctct	3	8	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:461399T>C	uc001qif.1	-	9	1484	c.1121A>G	c.(1120-1122)AAG>AGG	p.K374R	KDM5A_uc001qie.1_Missense_Mutation_p.K374R|KDM5A_uc010sdn.1_Missense_Mutation_p.K333R|KDM5A_uc010sdo.1_Intron	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	374					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						ATAATCAGACTTAAAATTATC	0.413			T 	NUP98	AML								C	461399	T	C	461399	3	2	96	1	0	0	0	0	1	0	0	0	8133	1609	56	3	4031	3	KDM5A	12	461399	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08		461399	133390496	789	63751											
WNK1	65125	broad.mit.edu	37	chr12	1005569	1005569	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagatcactgacacaaagaaAgaaggaccagtggcatctcc	9	10	2	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:1005569A>T	uc001qio.3	+	24	6423	c.5916A>T	c.(5914-5916)AAA>AAT	p.K1972N	WNK1_uc001qip.3_Missense_Mutation_p.K1724N|WNK1_uc001qir.3_Missense_Mutation_p.K1145N	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1972					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACACAAAGAAAGAAGGACCAG	0.448													T	1005569	A	T	1005569	3	4	96	1	0	0	0	0	1	0	0	0	17374	69	3	5	7512	5	WNK1	12	1005569	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	544170	1005569	132846326	790	63752											
ADIPOR2	79602	broad.mit.edu	37	chr12	1893087	1893087	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagtggaatcattcctaccTtgcactatgtcatctcggag	9	10	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:1893087T>G	uc001qjm.2	+	7	1077	c.880T>G	c.(880-882)TTG>GTG	p.L294V	ADIPOR2_uc001qjn.2_Missense_Mutation_p.L294V	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	adiponectin receptor 2	294	Helical; Name=5; (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity				0	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			CATTCCTACCTTGCACTATGT	0.507													G	1893087	T	G	1893087	3	3	96	1	0	0	0	0	1	0	0	0	319	1606	56	5	902	5	ADIPOR2	12	1893087	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	887518	1893087	131958808	791	63753											
ITFG2	55846	broad.mit.edu	37	chr12	2930009	2930009	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaggacactgggtcccctccTgcctctgaagggcccacgga	12	15	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:2930009T>A	uc001qlb.1	+	6	730	c.666T>A	c.(664-666)CCT>CCA	p.P222P	ITFG2_uc010seb.1_Silent_p.P45P|ITFG2_uc010sec.1_RNA	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	222											0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GGTCCCCTCCTGCCTCTGAAG	0.582													A	2930009	T	A	2930009	2	1	96	1	0	0	0	0	0	0	0	1	7870	1567	55	5		5	ITFG2	12	2930009	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1036922	2930009	130921886	792	63754											
GALNT8	26290	broad.mit.edu	37	chr12	4874640	4874640	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgacagaccctggcaaggcGgagaagcccaccttagaacc	11	14	0	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:4874640G>C	uc001qne.1	+	10	1781	c.1689G>C	c.(1687-1689)GCG>GCC	p.A563A		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	563	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(1)|skin(1)	4						CTGGCAAGGCGGAGAAGCCCA	0.463													C	4874640	G	C	4874640	2	2	96	1	0	0	0	0	0	0	0	1	6219	1103	39	5		5	GALNT8	12	4874640	Silent	SNP	G	TCGA-BR-8589-01A-11D-2394-08	1944631	4874640	128977255	793	63755											
VWF	7450	broad.mit.edu	37	chr12	6103171	6103171	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgtggctggagccaggaccTtgtggcattcagcaaacagt	13	9	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:6103171T>A	uc001qnn.1	-	37	6705	c.6455A>T	c.(6454-6456)AAG>ATG	p.K2152M	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2152	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	AGCCAGGACCTTGTGGCATTC	0.597													A	6103171	T	A	6103171	3	1	96	1	0	0	0	0	1	0	0	0	17243	1609	56	5	2050	5	VWF	12	6103171	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1228531	6103171	127748724	794	63756											
VWF	7450	broad.mit.edu	37	chr12	6125799	6125799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcttccatactgcagcaCtgacacctgagtgagacgag	11	11	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:6125799C>T	uc001qnn.1	-	30	5444	c.5194G>A	c.(5194-5196)GTG>ATG	p.V1732M	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1732	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	TACTGCAGCACTGACACCTGA	0.527													T	6125799	C	T	6125799	3	4	96	1	0	0	0	0	1	0	0	0	17243	565	20	4	3339	4	VWF	12	6125799	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	22628	6125799	127726096	795	63757											
VWF	7450	broad.mit.edu	37	chr12	6128379	6128379	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttcttcttcaggcccTggacgtagcggacaaagttc	9	13	4	0	rs63749069		TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:6128379T>C	uc001qnn.1	-	28	4455	c.4205A>G	c.(4204-4206)CAG>CGG	p.Q1402R	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1402	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CTTCAGGCCCTGGACGTAGCG	0.607													C	6128379	T	C	6128379	3	2	96	1	0	0	0	0	1	0	0	0	17243	1580	55	3	4336	3	VWF	12	6128379	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2580	6128379	127723516	796	63758											
CD163L1	283316	broad.mit.edu	37	chr12	7531781	7531781	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaacaacttcagcaatgtTcattccccagccattagcac	5	14	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:7531781T>G	uc001qsy.2	-	9	2190	c.2164A>C	c.(2164-2166)AAC>CAC	p.N722H	CD163L1_uc010sge.1_Missense_Mutation_p.N732H	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	722	SRCR 7.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						TCAGCAATGTTCATTCCCCAG	0.493													G	7531781	T	G	7531781	3	3	96	1	0	0	0	0	1	0	0	0	2968	1783	62	5	2241	5	CD163L1	12	7531781	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1403402	7531781	126320114	797	63759											
CLEC4C	170482	broad.mit.edu	37	chr12	7894101	7894101	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggacagcctcttgacagTtttgctatacataaaattgt	7	8	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:7894101T>G	uc001qtg.1	-	3	325	c.151A>C	c.(151-153)ACT>CCT	p.T51P	CLEC4C_uc001qth.1_Missense_Mutation_p.T51P|CLEC4C_uc001qti.1_Missense_Mutation_p.T20P	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C isoform	51	Extracellular (Potential).				innate immune response	integral to membrane	sugar binding			ovary(2)|skin(1)	3				Kidney(36;0.0915)		CTCTTGACAGTTTTGCTATAC	0.403													G	7894101	T	G	7894101	3	3	96	1	0	0	0	0	1	0	0	0	3513	1725	60	5	506	5	CLEC4C	12	7894101	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	362320	7894101	125957794	798	63760											
PZP	5858	broad.mit.edu	37	chr12	9318719	9318719	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttcagggactggccctgaActttgttcattatttaaggg	11	7	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:9318719A>C	uc001qvl.2	-	18	2216	c.2187T>G	c.(2185-2187)AGT>AGG	p.S729R	PZP_uc009zgl.2_Missense_Mutation_p.S598R|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Missense_Mutation_p.S61R	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						CTGGCCCTGAACTTTGTTCAT	0.413													C	9318719	A	C	9318719	3	2	96	1	0	0	0	0	1	0	0	0	12869	40	2	5	2337	5	PZP	12	9318719	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1424618	9318719	124533176	799	63761											
TAS2R50	259296	broad.mit.edu	37	chr12	11139032	11139032	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtttgccacaagaagaTgacaaaccaaaaatatcaaa	5	9	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:11139032T>C	uc001qzl.2	-	1	480	c.428A>G	c.(427-429)CAT>CGT	p.H143R	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176890	NP_795371	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	143	Helical; Name=4; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(2)	2						CACAAGAAGATGACAAACCAA	0.373													C	11139032	T	C	11139032	3	2	96	1	0	0	0	0	1	0	0	0	15581	1464	51	3	475	3	TAS2R50	12	11139032	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1820313	11139032	122712863	800	63762											
DUSP16	80824	broad.mit.edu	37	chr12	12640054	12640054	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgagactcggggataAagtcaggctttggacaggta	15	5	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:12640054A>C	uc001rao.1	-	5	1231	c.599T>G	c.(598-600)TTT>TGT	p.F200C	DUSP16_uc001ran.1_Missense_Mutation_p.F52C	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	200					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CTCGGGGATAAAGTCAGGCTT	0.433													C	12640054	A	C	12640054	3	2	96	1	0	0	0	0	1	0	0	0	4816	14	1	5	1410	5	DUSP16	12	12640054	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1501022	12640054	121211841	801	63763											
GPR19	2842	broad.mit.edu	37	chr12	12814254	12814254	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agttttggccatggaagggaTttctgaaatgccaacgtagt	12	6	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:12814254T>G	uc001rar.3	-	2	1322	c.1129A>C	c.(1129-1131)ATC>CTC	p.I377L	GPR19_uc001raq.2_Missense_Mutation_p.I377L	NM_006143	NP_006134	Q15760	GPR19_HUMAN	G protein-coupled receptor 19	377	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		ATGGAAGGGATTTCTGAAATG	0.398													G	12814254	T	G	12814254	3	3	96	1	0	0	0	0	1	0	0	0	6679	1493	52	5	122	5	GPR19	12	12814254	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	174200	12814254	121037641	802	63764											
GPR19	2842	broad.mit.edu	37	chr12	12814276	12814276	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaatgccaacgtagttTtttttggccatccttgaact	7	9	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:12814276T>G	uc001rar.3	-	2	1300	c.1107A>C	c.(1105-1107)AAA>AAC	p.K369N	GPR19_uc001raq.2_Missense_Mutation_p.K369N	NM_006143	NP_006134	Q15760	GPR19_HUMAN	G protein-coupled receptor 19	369	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		CAACGTAGTTTTTTTTGGCCA	0.393													G	12814276	T	G	12814276	3	3	96	1	0	0	0	0	1	0	0	0	6679	1838	64	5	144	5	GPR19	12	12814276	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	22	12814276	121037619	803	63765											
ATF7IP	55729	broad.mit.edu	37	chr12	14649259	14649259	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctcacagtgcatcaccgAccaccacaagtgcatactgt	7	15	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:14649259A>C	uc001rbw.2	+	14	3533	c.3375A>C	c.(3373-3375)CGA>CGC	p.R1125R	ATF7IP_uc001rbx.2_Silent_p.R1124R|ATF7IP_uc001rby.3_Silent_p.R1125R|ATF7IP_uc001rca.2_Silent_p.R1125R	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	1125					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						TGCATCACCGACCACCACAAG	0.388													C	14649259	A	C	14649259	2	2	96	1	0	0	0	0	0	0	0	1	1087	262	10	5		5	ATF7IP	12	14649259	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1834983	14649259	119202636	804	63766											
PLBD1	79887	broad.mit.edu	37	chr12	14706297	14706297	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccattacatttttgacTtgtactgtcttttcagcagg	7	8	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:14706297T>G	uc001rcc.1	-	2	326	c.165A>C	c.(163-165)CAA>CAC	p.Q55H		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	55					lipid catabolic process	extracellular region	hydrolase activity				0						CATTTTTGACTTGTACTGTCT	0.433													G	14706297	T	G	14706297	3	3	96	1	0	0	0	0	1	0	0	0	12025	1606	56	5	1536	5	PLBD1	12	14706297	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	57038	14706297	119145598	805	63767											
STRAP	11171	broad.mit.edu	37	chr12	16055855	16055855	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttacttatagaagaAattgcttcagagaattcaga	6	4	2	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:16055855A>C	uc001rdc.3	+	10	1350	c.996A>C	c.(994-996)GAA>GAC	p.E332D	STRAP_uc010shw.1_Missense_Mutation_p.E345D|STRAP_uc001rdd.3_Missense_Mutation_p.E238D	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated	332				E -> A (in Ref. 6; AAV38848).	mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			skin(1)	1		Hepatocellular(102;0.121)				TTATAGAAGAAATTGCTTCAG	0.308													C	16055855	A	C	16055855	3	2	96	1	0	0	0	0	1	0	0	0	15325	11	1	5	1034	5	STRAP	12	16055855	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1349558	16055855	117796040	806	63768											
PLEKHA5	54477	broad.mit.edu	37	chr12	19501386	19501386	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagttaacaacagtggcagaAgttgatgaatctaatggaga	12	4	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:19501386A>C	uc001reb.2	+	19	2540	c.2454A>C	c.(2452-2454)GAA>GAC	p.E818D	PLEKHA5_uc010sie.1_Missense_Mutation_p.E979D|PLEKHA5_uc001rea.2_Missense_Mutation_p.E876D|PLEKHA5_uc009zin.2_Missense_Mutation_p.E576D|PLEKHA5_uc010sif.1_Missense_Mutation_p.E807D|PLEKHA5_uc010sig.1_Missense_Mutation_p.E800D|PLEKHA5_uc010sih.1_Missense_Mutation_p.E773D|PLEKHA5_uc001rec.1_Missense_Mutation_p.E627D|PLEKHA5_uc009zio.2_Intron	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	818							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CAGTGGCAGAAGTTGATGAAT	0.353													C	19501386	A	C	19501386	3	2	96	1	0	0	0	0	1	0	0	0	12059	69	3	5	2846	5	PLEKHA5	12	19501386	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3445531	19501386	114350509	807	63769											
RECQL	5965	broad.mit.edu	37	chr12	21628511	21628511	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataccaaatgcaacagttgcCactactacctgaaatatttt	4	10	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:21628511C>T	uc001rex.2	-	11	1455	c.1107G>A	c.(1105-1107)GTG>GTA	p.V369V	RECQL_uc001rey.2_Silent_p.V369V	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	369	Helicase C-terminal.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2						CAACAGTTGCCACTACTACCT	0.308								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					T	21628511	C	T	21628511	2	4	96	1	0	0	0	0	0	0	0	1	13201	581	21	4		4	RECQL	12	21628511	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	2127125	21628511	112223384	808	63770											
ITPR2	3709	broad.mit.edu	37	chr12	26640027	26640027	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtggaccagatgtcatcAattcattgtcatcgtccctt	7	11	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:26640027A>G	uc001rhg.2	-	40	5945	c.5528T>C	c.(5527-5529)TTG>TCG	p.L1843S	ITPR2_uc009zjg.1_5'UTR	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1843	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					AGATGTCATCAATTCATTGTC	0.368													G	26640027	A	G	26640027	3	3	96	1	0	0	0	0	1	0	0	0	7921	131	5	3	2649	3	ITPR2	12	26640027	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	5011516	26640027	107211868	809	63771											
FGD4	121512	broad.mit.edu	37	chr12	32778593	32778593	+	Silent	SNP	T	T	C													ttcttccctttttagactgcTgagctagggaaaagagcccc							TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:32778593T>C	uc001rkz.2	+	14	2118	c.1641T>C	c.(1639-1641)GCT>GCC	p.A547A	FGD4_uc001rlc.2_Silent_p.A632A|FGD4_uc001rky.2_Silent_p.A299A|FGD4_uc001rla.2_Silent_p.A203A|FGD4_uc010ske.1_Silent_p.A659A|FGD4_uc001rlb.1_RNA	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	547					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TTTAGACTGCTGAGCTAGGGA	0.338													C	32778593	T	C	32778593	2	2	96	1	0	0	0	0	0	0	0	1	5835	1567	55	3		3	FGD4	12	32778593	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	6138566	32778593	101073302	810	63772	306	2									
FGD4	121512	broad.mit.edu	37	chr12	32778598	32778598	+	Missense_Mutation	SNP	T	T	C													ccctttttagactgctgagcTagggaaaagagccccaagat							TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:32778598T>C	uc001rkz.2	+	14	2123	c.1646T>C	c.(1645-1647)CTA>CCA	p.L549P	FGD4_uc001rlc.2_Missense_Mutation_p.L634P|FGD4_uc001rky.2_Missense_Mutation_p.L301P|FGD4_uc001rla.2_Missense_Mutation_p.L205P|FGD4_uc010ske.1_Missense_Mutation_p.L661P|FGD4_uc001rlb.1_RNA	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	549					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					ACTGCTGAGCTAGGGAAAAGA	0.333													C	32778598	T	C	32778598	3	2	96	1	0	0	0	0	1	0	0	0	5835	1522	53	3	1692	3	FGD4	12	32778598	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5	32778598	101073297	811	63773	306	2									
CNTN1	1272	broad.mit.edu	37	chr12	41327555	41327555	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accaatgccaagcactgctgAgattagcacctctggggctg	11	12	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:41327555A>C	uc001rmm.1	+	9	973	c.860A>C	c.(859-861)GAG>GCG	p.E287A	CNTN1_uc009zjy.1_Missense_Mutation_p.E287A|CNTN1_uc001rmn.1_Missense_Mutation_p.E276A|CNTN1_uc001rmo.2_Missense_Mutation_p.E287A	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	287	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGCACTGCTGAGATTAGCACC	0.408													C	41327555	A	C	41327555	3	2	96	1	0	0	0	0	1	0	0	0	3640	304	11	5	890	5	CNTN1	12	41327555	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	8548957	41327555	92524340	812	63774											
CNTN1	1272	broad.mit.edu	37	chr12	41421690	41421690	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccaaggatcatcagttcAgtaaggtctggttcacgcta	9	11	5	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:41421690A>C	uc001rmm.1	+	22	2855	c.2742A>C	c.(2740-2742)TCA>TCC	p.S914S	CNTN1_uc001rmn.1_Silent_p.S903S	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	914	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TCATCAGTTCAGTAAGGTCTG	0.398													C	41421690	A	C	41421690	2	2	96	1	0	0	0	0	0	0	0	1	3640	175	7	5		5	CNTN1	12	41421690	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	94135	41421690	92430205	813	63775											
TWF1	5756	broad.mit.edu	37	chr12	44191514	44191514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattatacatctcttaccaaCtgcacatagttgagctgtct	5	11	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:44191514C>T	uc001rob.2	-	7	757	c.729G>A	c.(727-729)CAG>CAA	p.Q243Q	TWF1_uc001rnz.2_Silent_p.Q104Q|TWF1_uc001roa.2_Silent_p.Q236Q|TWF1_uc001roc.2_Silent_p.Q104Q	NM_002822	NP_002813	Q12792	TWF1_HUMAN	twinfilin 1	202	ADF-H 2.					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			stomach(1)	1	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		CTCTTACCAACTGCACATAGT	0.333													T	44191514	C	T	44191514	2	4	96	1	0	0	0	0	0	0	0	1	16778	564	20	4		4	TWF1	12	44191514	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	2769824	44191514	89660381	814	63776											
HDAC7	51564	broad.mit.edu	37	chr12	48183070	48183070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaatgaggatcttgctggCcttgctctgctgttgcagct	11	10	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:48183070C>T	uc010slo.1	-	19	2404	c.2209G>A	c.(2209-2211)GCC>ACC	p.A737T	HDAC7_uc009zku.2_RNA|HDAC7_uc001rqe.2_Missense_Mutation_p.A171T|HDAC7_uc001rqj.3_Missense_Mutation_p.A700T|HDAC7_uc001rqk.3_Missense_Mutation_p.A720T|HDAC7_uc010slp.1_5'Flank	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7 isoform a	698	Histone deacetylase.				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		ATCTTGCTGGCCTTGCTCTGC	0.582													T	48183070	C	T	48183070	3	4	96	1	0	0	0	0	1	0	0	0	7012	739	26	2	798	2	HDAC7	12	48183070	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	3991556	48183070	85668825	815	63777											
OR10AD1	121275	broad.mit.edu	37	chr12	48596600	48596600	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgaaatatactcgagaAagatgccattgatcagccca	9	8	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:48596600A>C	uc001rrl.1	-	1	476	c.476T>G	c.(475-477)TTT>TGT	p.F159C		NM_001004134	NP_001004134	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD,	159	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ATACTCGAGAAAGATGCCATT	0.502													C	48596600	A	C	48596600	3	2	96	1	0	0	0	0	1	0	0	0	10896	14	1	5	481	5	OR10AD1	12	48596600	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	413530	48596600	85255295	816	63778											
OR10AD1	121275	broad.mit.edu	37	chr12	48597066	48597066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccgtcactatgctgccatTccttagcatctggggcctgt	9	13	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:48597066T>C	uc001rrl.1	-	1	10	c.10A>G	c.(10-12)AAT>GAT	p.N4D		NM_001004134	NP_001004134	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD,	4	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ATGCTGCCATTCCTTAGCATC	0.522													C	48597066	T	C	48597066	3	2	96	1	0	0	0	0	1	0	0	0	10896	1783	62	3	947	3	OR10AD1	12	48597066	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	466	48597066	85254829	817	63779											
MLL2	8085	broad.mit.edu	37	chr12	49444192	49444192	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catctgagacccccactaccTtccctatgggactcaacggg	8	16	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:49444192T>G	uc001rta.3	-	11	3179	c.3179A>C	c.(3178-3180)AAG>ACG	p.K1060T		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1060	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CCCCACTACCTTCCCTATGGG	0.577			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			G	49444192	T	G	49444192	3	3	96	1	0	0	0	0	1	0	0	0	9621	1609	56	5	13610	5	MLL2	12	49444192	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	847126	49444192	84407703	818	63780											
FMNL3	91010	broad.mit.edu	37	chr12	50050607	50050607	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggagggaaggaactcaccTtggattcttgttattgaggc	15	6	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:50050607T>G	uc001ruv.1	-	8	1024	c.790A>C	c.(790-792)AGG>CGG	p.R264R	FMNL3_uc001ruw.1_Silent_p.R213R|FMNL3_uc001ruu.1_Silent_p.R114R	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	264	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4						GGAACTCACCTTGGATTCTTG	0.522													G	50050607	T	G	50050607	2	3	96	1	0	0	0	0	0	0	0	1	5953	1623	56	5		5	FMNL3	12	50050607	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	606415	50050607	83801288	819	63781											
RACGAP1	29127	broad.mit.edu	37	chr12	50388012	50388012	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctacagatagcatggataTcatccactttgctgaggagg	12	8	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:50388012T>C	uc001rvt.2	-	14	1551	c.1241A>G	c.(1240-1242)GAT>GGT	p.D414G	RACGAP1_uc009zlm.1_Missense_Mutation_p.D414G|RACGAP1_uc001rvs.2_Missense_Mutation_p.D414G|RACGAP1_uc001rvu.2_Missense_Mutation_p.D414G	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	414	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			kidney(1)	1						AGCATGGATATCATCCACTTT	0.453													C	50388012	T	C	50388012	3	2	96	1	0	0	0	0	1	0	0	0	12977	1435	50	3	681	3	RACGAP1	12	50388012	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	337405	50388012	83463883	820	63782											
KRT6A	3853	broad.mit.edu	37	chr12	52884661	52884661	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatcatacaaggctctcAggaagttgatctcgtctgtg	10	10	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:52884661A>G	uc001sam.2	-	4	1102	c.893T>C	c.(892-894)CTG>CCG	p.L298P		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	298	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAAGGCTCTCAGGAAGTTGAT	0.493													G	52884661	A	G	52884661	3	3	96	1	0	0	0	0	1	0	0	0	8480	188	7	3	825	3	KRT6A	12	52884661	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2496649	52884661	80967234	821	63783											
AAAS	8086	broad.mit.edu	37	chr12	53702131	53702131	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagtgagcctctcccccaAgcctgtgggtaaggacaggt	14	11	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:53702131A>G	uc001scr.3	-	13	1347	c.1184T>C	c.(1183-1185)CTT>CCT	p.L395P	AAAS_uc001scs.3_Missense_Mutation_p.L362P	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency,	395					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				ovary(1)	1						CTCTCCCCCAAGCCTGTGGGT	0.582													G	53702131	A	G	53702131	3	3	96	1	0	0	0	0	1	0	0	0	8	72	3	3	472	3	AAAS	12	53702131	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	817470	53702131	80149764	822	63784											
HOXC11	3227	broad.mit.edu	37	chr12	54369034	54369034	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgggaactggagcgagagtTtttcttcaacgtgtatatca	11	8	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:54369034T>C	uc001sem.2	+	2	868	c.752T>C	c.(751-753)TTT>TCT	p.F251S		NM_014212	NP_055027	O43248	HXC11_HUMAN	homeobox C11	251	Homeobox.				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GAGCGAGAGTTTTTCTTCAAC	0.552			T	NUP98	AML								C	54369034	T	C	54369034	3	2	96	1	0	0	0	0	1	0	0	0	7310	1841	64	3	758	3	HOXC11	12	54369034	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	666903	54369034	79482861	823	63785											
NCKAP1L	3071	broad.mit.edu	37	chr12	54902229	54902229	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgattgtaacttacacctcAgtcattttacttctgtcacg	5	10	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:54902229A>C	uc001sgc.3	+	5	499	c.420A>C	c.(418-420)TCA>TCC	p.S140S	NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Silent_p.S90S	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	140					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						CTTACACCTCAGTCATTTTAC	0.443													C	54902229	A	C	54902229	2	2	96	1	0	0	0	0	0	0	0	1	10222	175	7	5		5	NCKAP1L	12	54902229	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	533195	54902229	78949666	824	63786											
PDE1B	5153	broad.mit.edu	37	chr12	54970356	54970356	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgggggttctgcttctagcTttcagtggcgccagccctct	12	12	4	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:54970356T>G	uc001sgd.1	+	14	1544	c.1378T>G	c.(1378-1380)TTT>GTT	p.F460V	PDE1B_uc010soz.1_Missense_Mutation_p.F323V|PDE1B_uc010spa.1_Missense_Mutation_p.F419V|PDE1B_uc001sgf.2_Missense_Mutation_p.F323V|PDE1B_uc001sge.2_Missense_Mutation_p.F440V|PDE1B_uc009znq.2_Missense_Mutation_p.F256V	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	phosphodiesterase 1B isoform 1	460	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						TGCTTCTAGCTTTCAGTGGCG	0.572													G	54970356	T	G	54970356	3	3	96	1	0	0	0	0	1	0	0	0	11634	1623	56	5	1485	5	PDE1B	12	54970356	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	68127	54970356	78881539	825	63787											
OR9K2	441639	broad.mit.edu	37	chr12	55524397	55524397	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtatggtgctgtcttttTtatgtatctcactcctgaca	8	9	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:55524397T>G	uc010spe.1	+	1	845	c.845T>G	c.(844-846)TTT>TGT	p.F282C		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K,	282	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2						GCTGTCTTTTTTATGTATCTC	0.443													G	55524397	T	G	55524397	3	3	96	1	0	0	0	0	1	0	0	0	11254	1841	64	5	847	5	OR9K2	12	55524397	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	554041	55524397	78327498	826	63788											
OR10A7	121364	broad.mit.edu	37	chr12	55615481	55615481	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acacccgcattatcataacaAttctgaggatgtcctctgcc	6	13	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:55615481A>C	uc010spf.1	+	1	673	c.673A>C	c.(673-675)ATT>CTT	p.I225L		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A,	225	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)	4						TATCATAACAATTCTGAGGAT	0.463													C	55615481	A	C	55615481	3	2	96	1	0	0	0	0	1	0	0	0	10895	101	4	5	675	5	OR10A7	12	55615481	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	91084	55615481	78236414	827	63789											
OR6C68	403284	broad.mit.edu	37	chr12	55886425	55886425	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtatctcaactgggaacaaAataataacgtataatgcatg	7	6	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:55886425A>C	uc010spo.1	+	1	279	c.279A>C	c.(277-279)AAA>AAC	p.K93N		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C,	88	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CTGGGAACAAAATAATAACGT	0.338													C	55886425	A	C	55886425	3	2	96	1	0	0	0	0	1	0	0	0	11196	11	1	5	281	5	OR6C68	12	55886425	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	270944	55886425	77965470	828	63790											
PPM1H	57460	broad.mit.edu	37	chr12	63113967	63113967	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccagcctgtcatattaaAgtccctgtagagcatcttct	6	11	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:63113967A>G	uc001srk.3	-	6	1206	c.1057T>C	c.(1057-1059)TTT>CTT	p.F353L		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	protein phosphatase 1H (PP2C domain containing)	353	PP2C-like.						phosphoprotein phosphatase activity			lung(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		GTCATATTAAAGTCCCTGTAG	0.463													G	63113967	A	G	63113967	3	3	96	1	0	0	0	0	1	0	0	0	12341	72	3	3	507	3	PPM1H	12	63113967	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	7227542	63113967	70737928	829	63791											
RAB21	23011	broad.mit.edu	37	chr12	72167766	72167766	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgggtcaaagaattacggAaaatgttgggaaatgaaatc	11	4	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:72167766A>G	uc001swt.2	+	4	607	c.355A>G	c.(355-357)AAA>GAA	p.K119E		NM_014999	NP_055814	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	119					protein transport|small GTPase mediated signal transduction	cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane	GDP binding|GTP binding|GTPase activity|protein binding				0						AGAATTACGGAAAATGTTGGG	0.299													G	72167766	A	G	72167766	3	3	96	1	0	0	0	0	1	0	0	0	12908	247	9	3	369	3	RAB21	12	72167766	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	9053799	72167766	61684129	830	63792											
KCNC2	3747	broad.mit.edu	37	chr12	75601557	75601557	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctggcccgggggacagCgggggcgctctcggcggcgg	21	15	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:75601557C>T	uc001sxg.1	-	2	751	c.207G>A	c.(205-207)CCG>CCA	p.P69P	KCNC2_uc009zry.2_Silent_p.P69P|KCNC2_uc001sxe.2_Silent_p.P69P|KCNC2_uc001sxf.2_Silent_p.P69P|KCNC2_uc010stw.1_Silent_p.P69P	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	69	Gly/Pro-rich (insert).|Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						CGggggacagcgggggcgctc	0.527													T	75601557	C	T	75601557	2	4	96	1	0	0	0	0	0	0	0	1	8015	755	27	1		1	KCNC2	12	75601557	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	3433791	75601557	58250338	831	63793											
LIN7A	8825	broad.mit.edu	37	chr12	81283052	81283052	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaatagctgtacaaaacTcactctgaagcacttttttg	6	10	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:81283052T>G	uc001szj.1	-	2	372	c.179A>C	c.(178-180)GAG>GCG	p.E60A	LIN7A_uc001szk.1_RNA	NM_004664	NP_004655	O14910	LIN7A_HUMAN	lin-7 homolog A	60	L27.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			ovary(1)|skin(1)	2						TGTACAAAACTCACTCTGAAG	0.368													G	81283052	T	G	81283052	3	3	96	1	0	0	0	0	1	0	0	0	8810	1551	54	5	538	5	LIN7A	12	81283052	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5681495	81283052	52568843	832	63794											
EEA1	8411	broad.mit.edu	37	chr12	93226309	93226309	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattaatttcactttggagTtgtaacccatgctgctcctt	7	9	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:93226309T>G	uc001tck.2	-	11	1498	c.1233A>C	c.(1231-1233)CAA>CAC	p.Q411H		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	411	Gln/Glu/Lys-rich.|Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						CACTTTGGAGTTGTAACCCAT	0.363													G	93226309	T	G	93226309	3	3	96	1	0	0	0	0	1	0	0	0	4921	1722	60	5	3078	5	EEA1	12	93226309	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	11943257	93226309	40625586	833	63795											
PLXNC1	10154	broad.mit.edu	37	chr12	94692436	94692436	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcattctgtgcttgaaaaacTttttagaagcatttggagtt	8	5	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:94692436T>G	uc001tdc.2	+	27	4352	c.4103T>G	c.(4102-4104)CTT>CGT	p.L1368R	PLXNC1_uc010sut.1_Missense_Mutation_p.L415R|PLXNC1_uc009zsv.2_Missense_Mutation_p.L107R	NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	1368	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						CTTGAAAAACTTTTTAGAAGC	0.348													G	94692436	T	G	94692436	3	3	96	1	0	0	0	0	1	0	0	0	12126	1609	56	5	4209	5	PLXNC1	12	94692436	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1466127	94692436	39159459	834	63796											
APAF1	317	broad.mit.edu	37	chr12	99042569	99042569	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttccagtggtaaagatTcagttagtggaataacttcg	9	7	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:99042569T>G	uc001tfz.2	+	3	881	c.304T>G	c.(304-306)TCA>GCA	p.S102A	APAF1_uc001tfy.2_Intron|APAF1_uc001tga.2_Intron|APAF1_uc001tgb.2_Missense_Mutation_p.S102A|APAF1_uc001tgc.2_Missense_Mutation_p.S102A	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	102					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	TGGTAAAGATTCAGTTAGTGG	0.363													G	99042569	T	G	99042569	3	3	96	1	0	0	0	0	1	0	0	0	755	1783	62	5	310	5	APAF1	12	99042569	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4350133	99042569	34809326	835	63797											
ARL1	400	broad.mit.edu	37	chr12	101790343	101790343	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccactaaaatggcttttcTcagctcttcttcctaaatga	4	12	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:101790343T>C	uc001tib.2	-	5	498	c.349A>G	c.(349-351)AGA>GGA	p.R117G	ARL1_uc010svn.1_Missense_Mutation_p.R71G|ARL1_uc010svo.1_Intron|ARL1_uc001tic.2_Missense_Mutation_p.R117G	NM_001177	NP_001168	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	117					small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding			central_nervous_system(1)	1		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		ATGGCTTTTCTCAGCTCTTCT	0.353													C	101790343	T	C	101790343	3	2	96	1	0	0	0	0	1	0	0	0	925	1559	54	3	204	3	ARL1	12	101790343	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2747774	101790343	32061552	836	63798											
GNPTAB	79158	broad.mit.edu	37	chr12	102174027	102174027	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactcaggaaagccaaatctTgcattagcactaatccaggg	8	11	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:102174027T>C	uc001tit.2	-	7	853	c.674A>G	c.(673-675)CAA>CGA	p.Q225R	GNPTAB_uc001tiu.1_Missense_Mutation_p.Q225R|GNPTAB_uc001tiv.3_Missense_Mutation_p.Q88R	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	225					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2						AGCCAAATCTTGCATTAGCAC	0.368													C	102174027	T	C	102174027	3	2	96	1	0	0	0	0	1	0	0	0	6545	1812	63	3	3156	3	GNPTAB	12	102174027	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	383684	102174027	31677868	837	63799											
C12orf48	55010	broad.mit.edu	37	chr12	102572378	102572378	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttgtctcagccaaaatcTcatgccataaaccatggtac	5	11	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:102572378T>C	uc001tjf.2	+	8	1126	c.1014T>C	c.(1012-1014)TCT>TCC	p.S338S	C12orf48_uc001tjg.2_Silent_p.S257S|C12orf48_uc010swa.1_Silent_p.S415S|C12orf48_uc001tjh.2_Silent_p.S257S|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Silent_p.S53S|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN	hypothetical protein LOC55010	338					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding				0						AGCCAAAATCTCATGCCATAA	0.403													C	102572378	T	C	102572378	2	2	96	1	0	0	0	0	0	0	0	1	1692	1538	54	3		3	C12orf48	12	102572378	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	398351	102572378	31279517	838	63800											
ASCL1	429	broad.mit.edu	37	chr12	103352261	103352261	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccctcagggggcggtcacaAgtcagcgcccaagcaagtca	13	14	4	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:103352261A>G	uc001tjr.3	+	1	810	c.239A>G	c.(238-240)AAG>AGG	p.K80R		NM_004316	NP_004307	P50553	ASCL1_HUMAN	achaete-scute complex homolog 1	80					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0						GGCGGTCACAAGTCAGCGCCC	0.517													G	103352261	A	G	103352261	3	3	96	1	0	0	0	0	1	0	0	0	1034	72	3	3	241	3	ASCL1	12	103352261	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	779883	103352261	30499634	839	63801											
ACACB	32	broad.mit.edu	37	chr12	109577503	109577503	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctaccaccctcccaccagaAgcccccaagaaacccccttt	3	22	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:109577503A>G	uc001tob.2	+	2	412	c.293A>G	c.(292-294)AAG>AGG	p.K98R	ACACB_uc001toc.2_Missense_Mutation_p.K98R	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	98					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	TCCCACCAGAAGCCCCCAAGA	0.617													G	109577503	A	G	109577503	3	3	96	1	0	0	0	0	1	0	0	0	107	72	3	3	295	3	ACACB	12	109577503	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	6225242	109577503	24274392	840	63802											
ACACB	32	broad.mit.edu	37	chr12	109644623	109644623	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaacctcaccaacgtcatgAgtggcttttgtctgccagag	9	11	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:109644623A>T	uc001tob.2	+	20	3141	c.3022A>T	c.(3022-3024)AGT>TGT	p.S1008C	ACACB_uc001toc.2_Missense_Mutation_p.S1008C	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1008					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	CAACGTCATGAGTGGCTTTTG	0.547													T	109644623	A	T	109644623	3	4	96	1	0	0	0	0	1	0	0	0	107	304	11	5	3096	5	ACACB	12	109644623	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	67120	109644623	24207272	841	63803											
UBE3B	89910	broad.mit.edu	37	chr12	109959331	109959331	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcttcgagtttgtggggaAgatgctggggaaggctgtgt	18	5	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:109959331A>C	uc001top.2	+	21	2942	c.2339A>C	c.(2338-2340)AAG>ACG	p.K780T	UBE3B_uc001toq.2_Missense_Mutation_p.K780T|UBE3B_uc001tos.2_Missense_Mutation_p.K207T|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.K780T	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	780	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						TTTGTGGGGAAGATGCTGGGG	0.458													C	109959331	A	C	109959331	3	2	96	1	0	0	0	0	1	0	0	0	16877	72	3	5	2413	5	UBE3B	12	109959331	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	314708	109959331	23892564	842	63804											
MVK	4598	broad.mit.edu	37	chr12	110028611	110028611	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcctgctgaccaacaccaAagtccctcgcaataccaggg	8	15	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:110028611A>C	uc001toy.3	+	8	897	c.713A>C	c.(712-714)AAA>ACA	p.K238T	MVK_uc009zvk.2_Missense_Mutation_p.K238T|MVK_uc010sxr.1_Missense_Mutation_p.K186T|MVK_uc001toz.3_Missense_Mutation_p.K44T|MVK_uc001tpc.3_Intron	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	mevalonate kinase	238					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity				0						ACCAACACCAAAGTCCCTCGC	0.587													C	110028611	A	C	110028611	3	2	96	1	0	0	0	0	1	0	0	0	9995	14	1	5	739	5	MVK	12	110028611	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	69280	110028611	23823284	843	63805											
C12orf49	79794	broad.mit.edu	37	chr12	117160952	117160952	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgctattgcccaagttaAactgcactttccacgggatg	9	11	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:117160952A>C	uc001tvz.1	-	2	326	c.188T>G	c.(187-189)TTT>TGT	p.F63C	C12orf49_uc009zwm.1_Intron	NM_024738	NP_079014	Q9H741	CL049_HUMAN	hypothetical protein LOC79794 precursor	63						extracellular region				ovary(1)	1	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		GCCCAAGTTAAACTGCACTTT	0.517													C	117160952	A	C	117160952	3	2	96	1	0	0	0	0	1	0	0	0	1693	14	1	5	445	5	C12orf49	12	117160952	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	7132341	117160952	16690943	844	63806											
NOS1	4842	broad.mit.edu	37	chr12	117696841	117696841	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatctcacctccccattcTcagggggatctccattgcca	6	17	4	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:117696841T>C	uc001twm.1	-	15	3148	c.2462A>G	c.(2461-2463)GAG>GGG	p.E821G	NOS1_uc001twn.1_5'Flank	NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	821	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTCCCCATTCTCAGGGGGATC	0.488													C	117696841	T	C	117696841	3	2	96	1	0	0	0	0	1	0	0	0	10541	1551	54	3	1902	3	NOS1	12	117696841	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	535889	117696841	16155054	845	63807											
WSB2	55884	broad.mit.edu	37	chr12	118476183	118476183	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtggcccgataacacttgAatctgtttacctggcaggaa	11	9	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:118476183A>C	uc001twr.2	-	5	668	c.570T>G	c.(568-570)ATT>ATG	p.I190M	WSB2_uc010sza.1_Intron|WSB2_uc010szb.1_Translation_Start_Site|WSB2_uc009zws.1_Missense_Mutation_p.I190M	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	190	WD 2.				intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATAACACTTGAATCTGTTTAC	0.537													C	118476183	A	C	118476183	3	2	96	1	0	0	0	0	1	0	0	0	17402	242	9	5	664	5	WSB2	12	118476183	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	779342	118476183	15375712	846	63808											
CIT	11113	broad.mit.edu	37	chr12	120214531	120214531	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaattcttcagcagcaAgccgagactctctcagctca	8	13	5	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:120214531A>C	uc001txi.1	-	14	1834	c.1781T>G	c.(1780-1782)CTT>CGT	p.L594R	CIT_uc001txh.1_Missense_Mutation_p.L128R|CIT_uc001txj.1_Missense_Mutation_p.L594R	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	594	Potential.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTCAGCAGCAAGCCGAGACTC	0.463													C	120214531	A	C	120214531	3	2	96	1	0	0	0	0	1	0	0	0	3438	72	3	5	4438	5	CIT	12	120214531	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1738348	120214531	13637364	847	63809											
GCN1L1	10985	broad.mit.edu	37	chr12	120602204	120602204	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgccagcttaaagcccccaAgagaggacagcagcttccga	11	14	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:120602204A>C	uc001txo.2	-	18	1797	c.1784T>G	c.(1783-1785)CTT>CGT	p.L595R		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	595					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAAGCCCCCAAGAGAGGACAG	0.622													C	120602204	A	C	120602204	3	2	96	1	0	0	0	0	1	0	0	0	6299	72	3	5	6395	5	GCN1L1	12	120602204	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	387673	120602204	13249691	848	63810											
RSRC2	65117	broad.mit.edu	37	chr12	122990116	122990116	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgaagatgtgaaacccaaAcccattcctctttgtgtgtg	8	9	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:122990116A>G	uc001ucr.2	-	10	1409	c.1263T>C	c.(1261-1263)GGT>GGC	p.G421G	RSRC2_uc001uco.2_Silent_p.G190G|RSRC2_uc001ucp.2_Silent_p.G362G|RSRC2_uc001ucq.2_Silent_p.G189G|RSRC2_uc001ucs.2_Silent_p.G190G|RSRC2_uc001uct.2_Silent_p.G373G|RSRC2_uc001ucu.2_Silent_p.G422G	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2 isoform a	421										ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TGAAACCCAAACCCATTCCTC	0.398													G	122990116	A	G	122990116	2	3	96	1	0	0	0	0	0	0	0	1	13715	30	2	3		3	RSRC2	12	122990116	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2387912	122990116	10861779	849	63811											
DNAH10	196385	broad.mit.edu	37	chr12	124359938	124359938	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaggccgcaatgaagttgAcccaagatttatttcgctat	10	8	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr12:124359938A>G	uc001uft.3	+	46	7770	c.7745A>G	c.(7744-7746)GAC>GGC	p.D2582G		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2582	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AATGAAGTTGACCCAAGATTT	0.453													G	124359938	A	G	124359938	3	3	96	1	0	0	0	0	1	0	0	0	4598	275	10	3	7927	3	DNAH10	12	124359938	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1369822	124359938	9491957	850	63812											
CRYL1	51084	broad.mit.edu	37	chr13	20978777	20978777	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagagaagttacatacctgGttaaccttctcagcagtggc	10	10	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr13:20978777G>A	uc001une.2	-	7	922	c.843C>T	c.(841-843)AAC>AAT	p.N281N	CRYL1_uc001unf.2_Silent_p.N259N|CRYL1_uc001ung.2_Silent_p.N259N	NM_015974	NP_057058	Q9Y2S2	CRYL1_HUMAN	lambda-crystallin	281					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity				0		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		TACATACCTGGTTAACCTTCT	0.522													A	20978777	G	A	20978777	2	1	96	1	0	0	0	0	0	0	0	1	3920	1252	44	4		4	CRYL1	13	20978777	Silent	SNP	G	TCGA-BR-8589-01A-11D-2394-08		20978777	94191101	851	63813											
XPO4	64328	broad.mit.edu	37	chr13	21383284	21383284	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcattcctacactggccagTtgatcagaaaactggtctcg	9	11	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr13:21383284T>G	uc001unq.3	-	11	1467	c.1431A>C	c.(1429-1431)CAA>CAC	p.Q477H		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	477					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		CACTGGCCAGTTGATCAGAAA	0.433													G	21383284	T	G	21383284	3	3	96	1	0	0	0	0	1	0	0	0	17443	1722	60	5	2076	5	XPO4	13	21383284	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	404507	21383284	93786594	852	63814											
SACS	26278	broad.mit.edu	37	chr13	23907309	23907309	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgatttttgggttttataAgttgttccaatttcttaaag	7	4	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr13:23907309A>C	uc001uon.2	-	10	11295	c.10706T>G	c.(10705-10707)CTT>CGT	p.L3569R	SACS_uc001uoo.2_Missense_Mutation_p.L3422R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3569					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGGTTTTATAAGTTGTTCCAA	0.308													C	23907309	A	C	23907309	3	2	96	1	0	0	0	0	1	0	0	0	13804	72	3	5	3037	5	SACS	13	23907309	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2524025	23907309	91262569	853	63815											
SACS	26278	broad.mit.edu	37	chr13	23909096	23909096	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttcactagacaatataaAtctggctgtagatcaagacg	8	8	3	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr13:23909096A>C	uc001uon.2	-	10	9508	c.8919T>G	c.(8917-8919)GAT>GAG	p.D2973E	SACS_uc001uoo.2_Missense_Mutation_p.D2826E|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2973					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GACAATATAAATCTGGCTGTA	0.383													C	23909096	A	C	23909096	3	2	96	1	0	0	0	0	1	0	0	0	13804	98	4	5	4824	5	SACS	13	23909096	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1787	23909096	91260782	854	63816											
SACS	26278	broad.mit.edu	37	chr13	23910752	23910752	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attattcgtcggcaaagctgAaaattctcttctgttatttg	7	7	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr13:23910752A>C	uc001uon.2	-	10	7852	c.7263T>G	c.(7261-7263)TTT>TTG	p.F2421L	SACS_uc001uoo.2_Missense_Mutation_p.F2274L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2421					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGCAAAGCTGAAAATTCTCTT	0.368													C	23910752	A	C	23910752	3	2	96	1	0	0	0	0	1	0	0	0	13804	243	9	5	6480	5	SACS	13	23910752	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1656	23910752	91259126	855	63817											
MTUS2	23281	broad.mit.edu	37	chr13	29600662	29600662	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacattccaaggacacaccTtcctcgcaggagggaatgga	10	12	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr13:29600662T>C	uc001usl.3	+	1	1915	c.1857T>C	c.(1855-1857)CCT>CCC	p.P619P		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	609						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						AGGACACACCTTCCTCGCAGG	0.517													C	29600662	T	C	29600662	2	2	96	1	0	0	0	0	0	0	0	1	9966	1596	56	3		3	MTUS2	13	29600662	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5689910	29600662	85569216	856	63818											
FAM48A	55578	broad.mit.edu	37	chr13	37607715	37607715	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagctggctctcaagcaaaAgtttgtcttcctgaaatgtg	10	8	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr13:37607715A>C	uc001uwg.2	-	10	826	c.578T>G	c.(577-579)CTT>CGT	p.L193R	FAM48A_uc010abt.2_Missense_Mutation_p.L194R|FAM48A_uc001uwh.2_Missense_Mutation_p.L194R|FAM48A_uc001uwi.2_Missense_Mutation_p.L193R|FAM48A_uc001uwj.2_Missense_Mutation_p.L194R|FAM48A_uc001uwk.2_Missense_Mutation_p.L193R|FAM48A_uc010tes.1_Missense_Mutation_p.L181R|FAM48A_uc001uwl.1_Missense_Mutation_p.L193R	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	193					autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		CTCAAGCAAAAGTTTGTCTTC	0.383													C	37607715	A	C	37607715	3	2	96	1	0	0	0	0	1	0	0	0	5572	72	3	5	1829	5	FAM48A	13	37607715	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	8007053	37607715	77562163	857	63819											
FREM2	341640	broad.mit.edu	37	chr13	39265757	39265757	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttccctgatgtgataAgtaagggagtgtccttgaaa	11	6	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr13:39265757A>C	uc001uwv.2	+	1	4585	c.4276A>C	c.(4276-4278)AGT>CGT	p.S1426R		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1426	Extracellular (Potential).|CSPG 10.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGATGTGATAAGTAAGGGAGT	0.398													C	39265757	A	C	39265757	3	2	96	1	0	0	0	0	1	0	0	0	6045	72	3	5	4278	5	FREM2	13	39265757	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1658042	39265757	75904121	858	63820											
KIAA0564	23078	broad.mit.edu	37	chr13	42144716	42144716	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattccatatcgtgacagatTtgcatcactcaagactatga	6	9	2	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr13:42144716T>G	uc001uyj.2	-	44	5567	c.5497A>C	c.(5497-5499)AAT>CAT	p.N1833H		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1833	VWFA.					extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		CGTGACAGATTTGCATCACTC	0.413													G	42144716	T	G	42144716	3	3	96	1	0	0	0	0	1	0	0	0	8185	1841	64	5	228	5	KIAA0564	13	42144716	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2878959	42144716	73025162	859	63821											
FNDC3A	22862	broad.mit.edu	37	chr13	49748662	49748662	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accagcaatgggctgtaaatTcagactatcggccagaaatg	10	9	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr13:49748662T>G	uc001vcm.2	+	12	1627	c.1322T>G	c.(1321-1323)TTC>TGC	p.F441C	FNDC3A_uc001vcn.2_Missense_Mutation_p.F441C|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.F367C|FNDC3A_uc001vcq.2_Missense_Mutation_p.F385C	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	441	Fibronectin type-III 2.					Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GGCTGTAAATTCAGACTATCG	0.323													G	49748662	T	G	49748662	3	3	96	1	0	0	0	0	1	0	0	0	5969	1783	62	5	1375	5	FNDC3A	13	49748662	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	7603946	49748662	65421216	860	63822											
PCDH8	5100	broad.mit.edu	37	chr13	53421176	53421176	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgatcctcggccaccagcgTcaagttgtactcggcgatgc	12	14	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr13:53421176T>C	uc001vhi.2	-	1	1599	c.1396A>G	c.(1396-1398)ACG>GCG	p.T466A	PCDH8_uc001vhj.2_Missense_Mutation_p.T466A	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	466	Extracellular (Potential).|Cadherin 4.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCCACCAGCGTCAAGTTGTAC	0.711													C	53421176	T	C	53421176	3	2	96	1	0	0	0	0	1	0	0	0	11517	1667	58	3	1828	3	PCDH8	13	53421176	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3672514	53421176	61748702	861	63823											
DIAPH3	81624	broad.mit.edu	37	chr13	60544997	60544997	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttacctttaaccaatTcaatcttctcatgctgattt	2	10	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr13:60544997T>G	uc001vht.2	-	16	2167	c.1948A>C	c.(1948-1950)AAT>CAT	p.N650H	DIAPH3_uc001vhu.2_Missense_Mutation_p.N387H|DIAPH3_uc001vhv.2_Missense_Mutation_p.N228H	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	650	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TTTAACCAATTCAATCTTCTC	0.299													G	60544997	T	G	60544997	3	3	96	1	0	0	0	0	1	0	0	0	4520	1783	62	5	1705	5	DIAPH3	13	60544997	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	7123821	60544997	54624881	862	63824											
PCDH9	5101	broad.mit.edu	37	chr13	67801672	67801672	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attatttaaagcaaagagtcTtttggttgcaggggcgacct	11	6	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr13:67801672T>C	uc001vik.2	-	2	1593	c.901A>G	c.(901-903)AGA>GGA	p.R301G	PCDH9_uc001vil.2_Missense_Mutation_p.R301G|PCDH9_uc010thl.1_Missense_Mutation_p.R301G|PCDH9_uc001vin.3_Missense_Mutation_p.R301G	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	301	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GCAAAGAGTCTTTTGGTTGCA	0.458													C	67801672	T	C	67801672	3	2	96	1	0	0	0	0	1	0	0	0	11518	1617	56	3	2828	3	PCDH9	13	67801672	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	7256675	67801672	47368206	863	63825											
PIBF1	10464	broad.mit.edu	37	chr13	73372083	73372083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatccattaagaaaggaAatctgtgaactacaagtgaa	9	5	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr13:73372083A>C	uc001vjc.2	+	5	896	c.591A>C	c.(589-591)GAA>GAC	p.E197D	PIBF1_uc001vja.1_Missense_Mutation_p.E197D|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.E197D|PIBF1_uc010aep.2_Intron	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	progesterone-induced blocking factor 1	197						centrosome				ovary(1)|breast(1)	2		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TAAGAAAGGAAATCTGTGAAC	0.299													C	73372083	A	C	73372083	3	2	96	1	0	0	0	0	1	0	0	0	11879	11	1	5	605	5	PIBF1	13	73372083	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	5570411	73372083	41797795	864	63826											
PIBF1	10464	broad.mit.edu	37	chr13	73396078	73396078	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacacaaaacagttaattcAgcaaggtgactaccgtcaag	8	9	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr13:73396078A>G	uc001vjc.2	+	6	1069	c.764A>G	c.(763-765)CAG>CGG	p.Q255R	PIBF1_uc001vja.1_Missense_Mutation_p.Q255R|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.Q255R|PIBF1_uc010aep.2_Intron	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	progesterone-induced blocking factor 1	255						centrosome				ovary(1)|breast(1)	2		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CAGTTAATTCAGCAAGGTGAC	0.303													G	73396078	A	G	73396078	3	3	96	1	0	0	0	0	1	0	0	0	11879	188	7	3	782	3	PIBF1	13	73396078	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	23995	73396078	41773800	865	63827											
MYCBP2	23077	broad.mit.edu	37	chr13	77635873	77635873	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacataaatttccacagacaTtgcataaaatgattgctgca	5	8	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr13:77635873T>G	uc001vkf.2	-	76	12804	c.12713A>C	c.(12712-12714)AAT>ACT	p.N4238T	MYCBP2_uc010aev.2_Missense_Mutation_p.N3642T|MYCBP2_uc001vke.2_Missense_Mutation_p.N855T	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	4238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCCACAGACATTGCATAAAAT	0.378													G	77635873	T	G	77635873	3	3	96	1	0	0	0	0	1	0	0	0	10018	1493	52	5	1245	5	MYCBP2	13	77635873	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4239795	77635873	37534005	866	63828											
MYCBP2	23077	broad.mit.edu	37	chr13	77759309	77759309	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttgggtagaaagaatgaaAgcaggcagtgaaagtattat	13	2	0	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr13:77759309A>G	uc001vkf.2	-	33	4625	c.4534T>C	c.(4534-4536)TTT>CTT	p.F1512L	MYCBP2_uc010aev.2_Missense_Mutation_p.F916L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AAAGAATGAAAGCAGGCAGTG	0.398													G	77759309	A	G	77759309	3	3	96	1	0	0	0	0	1	0	0	0	10018	72	3	3	9596	3	MYCBP2	13	77759309	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	123436	77759309	37410569	867	63829											
DOCK9	23348	broad.mit.edu	37	chr13	99452705	99452705	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtacatgacagggatgcgcTtcttcacataagggaagcag	13	8	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr13:99452705T>G	uc001vnt.2	-	52	5853	c.5798A>C	c.(5797-5799)AAG>ACG	p.K1933T	DOCK9_uc001vnw.2_Missense_Mutation_p.K1932T|DOCK9_uc001vnq.2_Missense_Mutation_p.K480T|DOCK9_uc001vnr.2_Missense_Mutation_p.K562T|DOCK9_uc010tin.1_Missense_Mutation_p.K551T|DOCK9_uc001vns.2_Missense_Mutation_p.K468T|DOCK9_uc010tio.1_Missense_Mutation_p.K588T|DOCK9_uc010tip.1_Missense_Mutation_p.K629T	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1933	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGGGATGCGCTTCTTCACATA	0.517													G	99452705	T	G	99452705	3	3	96	1	0	0	0	0	1	0	0	0	4694	1609	56	5	431	5	DOCK9	13	99452705	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	21693396	99452705	15717173	868	63830											
MYO16	23026	broad.mit.edu	37	chr13	109704747	109704747	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttaaattccgaggacataAgtctgccctgctcagtaaga	8	10	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr13:109704747A>C	uc001vqt.1	+	25	3032	c.2906A>C	c.(2905-2907)AAG>ACG	p.K969T	MYO16_uc010agk.1_Missense_Mutation_p.K991T|MYO16_uc001vqu.1_Missense_Mutation_p.K769T|MYO16_uc010tjh.1_Missense_Mutation_p.K481T	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	969	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CGAGGACATAAGTCTGCCCTG	0.368													C	109704747	A	C	109704747	3	2	96	1	0	0	0	0	1	0	0	0	10064	72	3	5	3000	5	MYO16	13	109704747	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	10252042	109704747	5465131	869	63831											
MYO16	23026	broad.mit.edu	37	chr13	109704765	109704765	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taagtctgccctgctcagtaAgaaaatgacagcttcttcaa	7	10	4	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr13:109704765A>C	uc001vqt.1	+	25	3050	c.2924A>C	c.(2923-2925)AAG>ACG	p.K975T	MYO16_uc010agk.1_Missense_Mutation_p.K997T|MYO16_uc001vqu.1_Missense_Mutation_p.K775T|MYO16_uc010tjh.1_Missense_Mutation_p.K487T	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	975	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTGCTCAGTAAGAAAATGACA	0.343													C	109704765	A	C	109704765	3	2	96	1	0	0	0	0	1	0	0	0	10064	72	3	5	3018	5	MYO16	13	109704765	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	18	109704765	5465113	870	63832											
ATP11A	23250	broad.mit.edu	37	chr13	113487306	113487306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtacatctcatcctcgcccGacgaggtggcgctggtcgaa	12	13	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr13:113487306G>A	uc001vsi.3	+	14	1616	c.1528G>A	c.(1528-1530)GAC>AAC	p.D510N	ATP11A_uc001vsj.3_Missense_Mutation_p.D510N|ATP11A_uc001vsm.1_Missense_Mutation_p.D386N	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	510	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATCCTCGCCCGACGAGGTGGC	0.632													A	113487306	G	A	113487306	3	1	96	1	0	0	0	0	1	0	0	0	1119	1058	37	1	1582	1	ATP11A	13	113487306	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	3782541	113487306	1682572	871	63833											
OR4K5	79317	broad.mit.edu	37	chr14	20389223	20389223	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatctcctgggctgtgagctTggtgcacacattaagccagt	12	10	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr14:20389223T>C	uc010tkw.1	+	1	458	c.458T>C	c.(457-459)TTG>TCG	p.L153S		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	153	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTGTGAGCTTGGTGCACACA	0.433													C	20389223	T	C	20389223	3	2	96	1	0	0	0	0	1	0	0	0	11073	1821	63	3	460	3	OR4K5	14	20389223	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08		20389223	86960317	872	63834											
RNASE10	338879	broad.mit.edu	37	chr14	20979222	20979222	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attacctaacttctgttataAaaaagcacattattataacc	2	8	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr14:20979222A>C	uc010tlj.1	+	1	592	c.592A>C	c.(592-594)AAA>CAA	p.K198Q	RNASE10_uc001vxp.2_Missense_Mutation_p.K226Q	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	198						extracellular region	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		TTCTGTTATAAAAAAGCACAT	0.338													C	20979222	A	C	20979222	3	2	96	1	0	0	0	0	1	0	0	0	13400	15	1	5	594	5	RNASE10	14	20979222	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	589999	20979222	86370318	873	63835											
MYH6	4624	broad.mit.edu	37	chr14	23853762	23853762	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagctcccgcacccgcgcTtccagcttctgcagctgctt	8	19	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr14:23853762T>G	uc001wjv.2	-	36	5521	c.5454A>C	c.(5452-5454)GAA>GAC	p.E1818D		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1818	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCACCCGCGCTTCCAGCTTCT	0.632													G	23853762	T	G	23853762	3	3	96	1	0	0	0	0	1	0	0	0	10038	1606	56	5	381	5	MYH6	14	23853762	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2874540	23853762	83495778	874	63836											
RNF31	55072	broad.mit.edu	37	chr14	24627108	24627108	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccatctgggtttctgccagaAatgtccagagcctaactgca	9	12	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr14:24627108A>T	uc001wmn.1	+	17	2978	c.2729A>T	c.(2728-2730)AAA>ATA	p.K910I	RNF31_uc001wml.1_Missense_Mutation_p.K759I|RNF31_uc010alg.1_Missense_Mutation_p.K669I|RNF31_uc001wmo.1_Missense_Mutation_p.K377I|RNF31_uc001wmp.2_RNA|RNF31_uc010alh.1_Missense_Mutation_p.K94I	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	910	IBR-type 2.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		TTCTGCCAGAAATGTCCAGAG	0.597													T	24627108	A	T	24627108	3	4	96	1	0	0	0	0	1	0	0	0	13487	28	1	5	2795	5	RNF31	14	24627108	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	773346	24627108	82722432	875	63837											
TSSK4	283629	broad.mit.edu	37	chr14	24675723	24675723	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctggggtcaggtaatgaaAgtcttgcggcacaagtacct	12	8	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr14:24675723A>C	uc001wng.2	+	2	402	c.234A>C	c.(232-234)AAA>AAC	p.K78N	TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.2_Missense_Mutation_p.K2N|TSSK4_uc001wnf.2_5'UTR|TSSK4_uc001wnh.2_Missense_Mutation_p.K78N	NM_174944	NP_777604	Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	78	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity				0				GBM - Glioblastoma multiforme(265;0.018)		AGGTAATGAAAGTCTTGCGGC	0.522													C	24675723	A	C	24675723	3	2	96	1	0	0	0	0	1	0	0	0	16668	69	3	5	240	5	TSSK4	14	24675723	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	48615	24675723	82673817	876	63838											
HECTD1	25831	broad.mit.edu	37	chr14	31575893	31575893	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcccagaacctgatggAttcttcagcactagttcctg	11	11	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr14:31575893A>G	uc001wrc.1	-	38	7674	c.7185T>C	c.(7183-7185)AAT>AAC	p.N2395N	HECTD1_uc001wra.1_Silent_p.N521N|HECTD1_uc001wrb.1_Silent_p.N521N	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	2395	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AACCTGATGGATTCTTCAGCA	0.363													G	31575893	A	G	31575893	2	3	96	1	0	0	0	0	0	0	0	1	7039	330	12	3		3	HECTD1	14	31575893	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	6900170	31575893	75773647	877	63839											
HEATR5A	25938	broad.mit.edu	37	chr14	31771644	31771644	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaactgtcgaagataacTggcccccaggtaacttcaca	8	13	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr14:31771644T>A	uc001wrf.3	-	27	4519	c.4442A>T	c.(4441-4443)CAG>CTG	p.Q1481L	HEATR5A_uc010ami.2_Intron	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1768							binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CGAAGATAACTGGCCCCCAGG	0.468													A	31771644	T	A	31771644	3	1	96	1	0	0	0	0	1	0	0	0	7031	1580	55	5	835	5	HEATR5A	14	31771644	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	195751	31771644	75577896	878	63840											
ARHGAP5	394	broad.mit.edu	37	chr14	32560921	32560921	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaagagcttttaacactcTtttgccaaatctagaagaga	6	9	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr14:32560921T>C	uc001wrl.2	+	2	1285	c.1046T>C	c.(1045-1047)CTT>CCT	p.L349P	ARHGAP5_uc001wrm.2_Missense_Mutation_p.L349P|ARHGAP5_uc001wrn.2_Missense_Mutation_p.L349P|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	349					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTTAACACTCTTTTGCCAAAT	0.313													C	32560921	T	C	32560921	3	2	96	1	0	0	0	0	1	0	0	0	886	1609	56	3	1048	3	ARHGAP5	14	32560921	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	789277	32560921	74788619	879	63841											
NPAS3	64067	broad.mit.edu	37	chr14	34269204	34269204	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgctacgtggagagcgAgtcggacctgcggctgcaga	18	10	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr14:34269204A>G	uc001wru.2	+	12	1755	c.1691A>G	c.(1690-1692)GAG>GGG	p.E564G	NPAS3_uc001wrs.2_Missense_Mutation_p.E551G|NPAS3_uc001wrt.2_Missense_Mutation_p.E532G|NPAS3_uc001wrv.2_Missense_Mutation_p.E534G	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GTGGAGAGCGAGTCGGACCTG	0.667													G	34269204	A	G	34269204	3	3	96	1	0	0	0	0	1	0	0	0	10564	304	11	3	1792	3	NPAS3	14	34269204	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1708283	34269204	73080336	880	63842											
MDGA2	161357	broad.mit.edu	37	chr14	47426820	47426820	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccttgccggatttccaAgaatgctggttccactgcag	10	12	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr14:47426820A>C	uc001wwj.3	-	9	1835	c.1639T>G	c.(1639-1641)TTG>GTG	p.L547V	MDGA2_uc001wwi.3_Missense_Mutation_p.L318V|MDGA2_uc010ani.2_Missense_Mutation_p.L107V	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	547	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						CGGATTTCCAAGAATGCTGGT	0.448													C	47426820	A	C	47426820	3	2	96	1	0	0	0	0	1	0	0	0	9407	69	3	5	1267	5	MDGA2	14	47426820	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	13157616	47426820	59922720	881	63843											
ATP5S	27109	broad.mit.edu	37	chr14	50790684	50790684	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcctagagcatgttgaaaAaataaggctgtgcaagtgtc	13	6	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr14:50790684A>C	uc001wxw.1	+	4	1075	c.383A>C	c.(382-384)AAA>ACA	p.K128T	ATP5S_uc001wxx.1_Intron|ATP5S_uc010ant.1_Missense_Mutation_p.K100T	NM_001003803	NP_001003803	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	128					ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			ovary(1)|skin(1)	2	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		CATGTTGAAAAAATAAGGCTG	0.289													C	50790684	A	C	50790684	3	2	96	1	0	0	0	0	1	0	0	0	1163	14	1	5	447	5	ATP5S	14	50790684	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3363864	50790684	56558856	882	63844											
TXNDC16	57544	broad.mit.edu	37	chr14	52981657	52981657	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattggtatgtagtcccataCacaaaagcggcttccatgac	8	10	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr14:52981657C>T	uc001wzs.2	-	8	995	c.546G>A	c.(544-546)GTG>GTA	p.V182V	TXNDC16_uc010tqu.1_Silent_p.V177V|TXNDC16_uc010aoe.2_RNA	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	182					cell redox homeostasis	extracellular region					0	Breast(41;0.0716)					TAGTCCCATACACAAAAGCGG	0.358													T	52981657	C	T	52981657	2	4	96	1	0	0	0	0	0	0	0	1	16792	465	17	4		4	TXNDC16	14	52981657	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	2190973	52981657	54367883	883	63845											
JKAMP	51528	broad.mit.edu	37	chr14	59965516	59965516	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctccgacctcttctggtgaAgaagattgcatgtgggttag	13	8	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr14:59965516A>C	uc001xei.3	+	5	1074	c.572A>C	c.(571-573)AAG>ACG	p.K191T	JKAMP_uc001xef.3_Missense_Mutation_p.K177T|JKAMP_uc001xeh.3_Missense_Mutation_p.K171T|JKAMP_uc001xeg.3_Missense_Mutation_p.K185T|JKAMP_uc010try.1_Missense_Mutation_p.K114T|JKAMP_uc001xej.3_Missense_Mutation_p.K114T	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	JNK1-associated membrane protein isoform 2	192	Cytoplasmic (Potential).				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)	1						CTTCTGGTGAAGAAGATTGCA	0.358													C	59965516	A	C	59965516	3	2	96	1	0	0	0	0	1	0	0	0	7949	72	3	5	548	5	JKAMP	14	59965516	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	6983859	59965516	47384024	884	63846											
ESR2	2100	broad.mit.edu	37	chr14	64716368	64716368	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagcatgtcaaagatttccAgaattccttctacgcatttc	7	10	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr14:64716368A>G	uc001xha.1	-	7	1589	c.1121T>C	c.(1120-1122)CTG>CCG	p.L374P	ESR2_uc001xgu.2_Missense_Mutation_p.L374P|ESR2_uc001xgv.2_Missense_Mutation_p.L374P|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Missense_Mutation_p.L374P|ESR2_uc001xgy.1_Missense_Mutation_p.L374P|ESR2_uc001xgz.1_Missense_Mutation_p.L374P|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Intron|ESR2_uc010aqd.1_Intron	NM_001437	NP_001428	Q92731	ESR2_HUMAN	estrogen receptor beta isoform 1	374	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	AAAGATTTCCAGAATTCCTTC	0.388													G	64716368	A	G	64716368	3	3	96	1	0	0	0	0	1	0	0	0	5257	188	7	3	569	3	ESR2	14	64716368	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4750852	64716368	42633172	885	63847											
SPTB	6710	broad.mit.edu	37	chr14	65252275	65252275	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggcagttctggaggaAgttctgtagctccaggttgt	13	9	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr14:65252275A>C	uc001xht.2	-	17	3889	c.3835T>G	c.(3835-3837)TTC>GTC	p.F1279V	SPTB_uc001xhr.2_Missense_Mutation_p.F1279V|SPTB_uc001xhs.2_Missense_Mutation_p.F1279V|SPTB_uc001xhu.2_Missense_Mutation_p.F1279V	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	1279	Spectrin 10.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTCTGGAGGAAGTTCTGTAGC	0.537													C	65252275	A	C	65252275	3	2	96	1	0	0	0	0	1	0	0	0	15117	72	3	5	3296	5	SPTB	14	65252275	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	535907	65252275	42097265	886	63848											
SLC8A3	6547	broad.mit.edu	37	chr14	70515511	70515511	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggtgccaaatgccacgaAaacaacagctgtgactgaat	10	9	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr14:70515511A>C	uc001xly.2	-	7	3134	c.2380T>G	c.(2380-2382)TTC>GTC	p.F794V	SLC8A3_uc001xlu.2_Missense_Mutation_p.F151V|SLC8A3_uc001xlv.2_Missense_Mutation_p.F165V|SLC8A3_uc001xlw.2_Missense_Mutation_p.F791V|SLC8A3_uc001xlx.2_Missense_Mutation_p.F792V|SLC8A3_uc001xlz.2_Missense_Mutation_p.F788V|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Missense_Mutation_p.F151V	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	794	Helical; (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AATGCCACGAAAACAACAGCT	0.512													C	70515511	A	C	70515511	3	2	96	1	0	0	0	0	1	0	0	0	14708	14	1	5	411	5	SLC8A3	14	70515511	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	5263236	70515511	36834029	887	63849											
SIPA1L1	26037	broad.mit.edu	37	chr14	72117215	72117215	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagaagtatcgagcacagcTtgataccaaaagtaagaaat	9	6	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr14:72117215T>G	uc001xms.2	+	5	2330	c.1982T>G	c.(1981-1983)CTT>CGT	p.L661R	SIPA1L1_uc001xmt.2_Missense_Mutation_p.L661R|SIPA1L1_uc001xmu.2_Missense_Mutation_p.L661R|SIPA1L1_uc001xmv.2_Missense_Mutation_p.L661R|SIPA1L1_uc010ttm.1_Missense_Mutation_p.L136R	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	661	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CGAGCACAGCTTGATACCAAA	0.428													G	72117215	T	G	72117215	3	3	96	1	0	0	0	0	1	0	0	0	14329	1609	56	5	1996	5	SIPA1L1	14	72117215	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1601704	72117215	35232325	888	63850											
SIPA1L1	26037	broad.mit.edu	37	chr14	72139141	72139141	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcttggcttccatgtcaActatgagggcattgtggcgg	13	9	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr14:72139141A>C	uc001xms.2	+	9	3254	c.2906A>C	c.(2905-2907)AAC>ACC	p.N969T	SIPA1L1_uc001xmt.2_Missense_Mutation_p.N969T|SIPA1L1_uc001xmu.2_Missense_Mutation_p.N969T|SIPA1L1_uc001xmv.2_Missense_Mutation_p.N969T|SIPA1L1_uc010ttm.1_Missense_Mutation_p.N444T	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	969	PDZ.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTCCATGTCAACTATGAGGGC	0.527													C	72139141	A	C	72139141	3	2	96	1	0	0	0	0	1	0	0	0	14329	43	2	5	2936	5	SIPA1L1	14	72139141	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	21926	72139141	35210399	889	63851											
YLPM1	56252	broad.mit.edu	37	chr14	75283360	75283360	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggaaaaagaagaaaaAgatccagattctggaaagaa	11	3	1	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr14:75283360A>G	uc001xqj.3	+	13	5776	c.5652A>G	c.(5650-5652)AAA>AAG	p.K1884K	YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Silent_p.K367K	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1689					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AAGAAGAAAAAGATCCAGATT	0.363													G	75283360	A	G	75283360	2	3	96	1	0	0	0	0	0	0	0	1	17483	69	3	3		3	YLPM1	14	75283360	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3144219	75283360	32066180	890	63852											
C14orf156	81892	broad.mit.edu	37	chr14	78183895	78183895	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatctgatgatgaaaagaaAgatttttgagactgcagcct	9	6	1	6			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr14:78183895A>G	uc001xue.3	+	4	351	c.321A>G	c.(319-321)AAA>AAG	p.K107K		NM_031210	NP_112487	Q9GZT3	SLIRP_HUMAN	SRA stem-loop-interacting RNA-binding protein	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	nucleotide binding|RNA binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0276)		ATGAAAAGAAAGATTTTTGAG	0.353													G	78183895	A	G	78183895	2	3	96	1	0	0	0	0	0	0	0	1	1754	69	3	3		3	C14orf156	14	78183895	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2900535	78183895	29165645	891	63853											
ATG2B	55102	broad.mit.edu	37	chr14	96783531	96783531	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgattaatattcagaagaActgagagaaaactctgagag	9	5	2	6			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr14:96783531A>C	uc001yfi.2	-	20	3526	c.3161T>G	c.(3160-3162)GTT>GGT	p.V1054G		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	1054										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATTCAGAAGAACTGAGAGAAA	0.343													C	96783531	A	C	96783531	3	2	96	1	0	0	0	0	1	0	0	0	1094	43	2	5	3167	5	ATG2B	14	96783531	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	18599636	96783531	10566009	892	63854											
AHNAK2	113146	broad.mit.edu	37	chr14	105415198	105415198	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaatgctgaggtcagtggtcTtgaggtccccctgcatggag	15	9	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr14:105415198T>A	uc010axc.1	-	7	6710	c.6590A>T	c.(6589-6591)AAG>ATG	p.K2197M	AHNAK2_uc001ypx.2_Missense_Mutation_p.K2097M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2197						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)			GTCAGTGGTCTTGAGGTCCCC	0.642													A	105415198	T	A	105415198	3	1	96	1	0	0	0	0	1	0	0	0	415	1609	56	5	10801	5	AHNAK2	14	105415198	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	8631667	105415198	1934342	893	63855											
HERC2	8924	broad.mit.edu	37	chr15	28478297	28478297	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttacattcttacctctcTttttccttcgttctcgaatt	2	12	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:28478297T>C	uc001zbj.2	-	30	4776	c.4670A>G	c.(4669-4671)AAG>AGG	p.K1557R		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1557					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTACCTCTCTTTTTCCTTCG	0.378													C	28478297	T	C	28478297	3	2	96	1	0	0	0	0	1	0	0	0	7058	1609	56	3	10090	3	HERC2	15	28478297	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08		28478297	74053095	894	63856											
TRPM1	4308	broad.mit.edu	37	chr15	31330353	31330353	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaagatggtggggggtagaAgaatccccatgataacctac	12	8	0	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:31330353A>C	uc001zfm.2	-	18	2395	c.2267T>G	c.(2266-2268)CTT>CGT	p.L756R	TRPM1_uc010azy.2_Missense_Mutation_p.L663R|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	756	Helical; (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGGGGGTAGAAGAATCCCCAT	0.348													C	31330353	A	C	31330353	3	2	96	1	0	0	0	0	1	0	0	0	16582	72	3	5	2584	5	TRPM1	15	31330353	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2852056	31330353	71201039	895	63857											
BUB1B	701	broad.mit.edu	37	chr15	40498573	40498573	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgagagactgttaccggaAgaagatctagatgtaaagac	11	7	1	6			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:40498573A>C	uc001zkx.3	+	15	2135	c.1923A>C	c.(1921-1923)GAA>GAC	p.E641D	BUB1B_uc010ucl.1_Missense_Mutation_p.E509D	NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	641					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|kidney(1)	4		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGTTACCGGAAGAAGATCTAG	0.463			Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome				C	40498573	A	C	40498573	3	2	96	1	0	0	0	0	1	0	0	0	1571	69	3	5	1981	5	BUB1B	15	40498573	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	9168220	40498573	62032819	896	63858											
RPUSD2	27079	broad.mit.edu	37	chr15	40866189	40866189	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcaaggacgacctggaagAgttggctgcagctgcccaga	16	10	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:40866189A>G	uc001zmd.1	+	3	1367	c.1367A>G	c.(1366-1368)GAG>GGG	p.E456G		NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing	456					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			skin(1)	1		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		GACCTGGAAGAGTTGGCTGCA	0.567													G	40866189	A	G	40866189	3	3	96	1	0	0	0	0	1	0	0	0	13667	304	11	3	1377	3	RPUSD2	15	40866189	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	367616	40866189	61665203	897	63859											
DNAJC17	55192	broad.mit.edu	37	chr15	41066632	41066632	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaggttgagaacctcaccAtactgtggggacaaaggggt	13	9	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:41066632A>G	uc001zms.1	-	9	614	c.603T>C	c.(601-603)TAT>TAC	p.Y201Y	DNAJC17_uc010bbz.1_RNA|DNAJC17_uc010bca.1_RNA|DNAJC17_uc010bcb.1_RNA	NM_018163	NP_060633	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	201	RRM.				protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding				0		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GAACCTCACCATACTGTGGGG	0.572													G	41066632	A	G	41066632	2	3	96	1	0	0	0	0	0	0	0	1	4636	224	8	3		3	DNAJC17	15	41066632	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	200443	41066632	61464760	898	63860											
MGA	23269	broad.mit.edu	37	chr15	42053967	42053967	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaattcagggactaacagatCaggcagacaaattgatagga	10	6	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:42053967C>T	uc010ucy.1	+	21	7610	c.7429C>T	c.(7429-7431)CAG>TAG	p.Q2477*	MGA_uc010ucz.1_Nonsense_Mutation_p.Q2268*|MGA_uc010uda.1_Nonsense_Mutation_p.Q1093*	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2438						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ACTAACAGATCAGGCAGACAA	0.363													T	42053967	C	T	42053967	4	4	96	1	0	0	0	0	0	1	0	0	9540	827	29	4	7507	4	MGA	15	42053967	Nonsense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	987335	42053967	60477425	899	63861											
PLA2G4E	123745	broad.mit.edu	37	chr15	42281732	42281732	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgcaggcccacctcgtagGgggagaactcgaaccactct	11	14	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:42281732G>T	uc001zow.1	-	14	1517	c.1517C>A	c.(1516-1518)CCC>CAC	p.P506H	PLA2G4E_uc010udc.1_5'UTR|PLA2G4E_uc001zov.1_Missense_Mutation_p.P159H	NM_001080490	NP_001073959	Q3MJ16	PA24E_HUMAN	phospholipase A2, group 4E	523	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity				0		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CACCTCGTAGGGGGAGAACTC	0.652											OREG0023079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	42281732	G	T	42281732	3	4	96	1	0	0	0	0	1	0	0	0	12005	1232	43	5	1026	5	PLA2G4E	15	42281732	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	227765	42281732	60249660	900	63862											
TP53BP1	7158	broad.mit.edu	37	chr15	43748755	43748755	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctccatattttcttctttgAgttcctctccttgactttca	3	12	5	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:43748755A>T	uc001zrs.2	-	12	2184	c.2036T>A	c.(2035-2037)CTC>CAC	p.L679H	TP53BP1_uc010udp.1_Missense_Mutation_p.L679H|TP53BP1_uc001zrq.3_Missense_Mutation_p.L684H|TP53BP1_uc001zrr.3_Missense_Mutation_p.L684H|TP53BP1_uc010udq.1_Missense_Mutation_p.L684H	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	679					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTCTTCTTTGAGTTCCTCTCC	0.443								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					T	43748755	A	T	43748755	3	4	96	1	0	0	0	0	1	0	0	0	16380	304	11	5	3950	5	TP53BP1	15	43748755	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1467023	43748755	58782637	901	63863											
DUOX1	53905	broad.mit.edu	37	chr15	45448048	45448048	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggccatcatgtatgtctTtgcctcccaccacttccgcc	6	18	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:45448048T>G	uc001zus.1	+	29	3969	c.3623T>G	c.(3622-3624)TTT>TGT	p.F1208C	DUOX1_uc001zut.1_Missense_Mutation_p.F1208C|DUOX1_uc010bee.1_Missense_Mutation_p.F588C	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1208	Helical; (Potential).|Interaction with TXNDC11 (By similarity).|Ferric oxidoreductase.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ATGTATGTCTTTGCCTCCCAC	0.562													G	45448048	T	G	45448048	3	3	96	1	0	0	0	0	1	0	0	0	4800	1841	64	5	3729	5	DUOX1	15	45448048	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1699293	45448048	57083344	902	63864											
SQRDL	58472	broad.mit.edu	37	chr15	45954208	45954208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctggtgccaaacaattgtCctcatctggtcgtcccacgg	10	13	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:45954208C>T	uc001zvt.2	+	4	479	c.290C>T	c.(289-291)TCC>TTC	p.S97F	SQRDL_uc001zvu.2_Missense_Mutation_p.S97F|SQRDL_uc001zvv.2_Missense_Mutation_p.S97F	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	sulfide dehydrogenase like precursor	97							oxidoreductase activity			ovary(1)	1		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		AAACAATTGTCCTCATCTGGT	0.443													T	45954208	C	T	45954208	3	4	96	1	0	0	0	0	1	0	0	0	15128	855	30	4	296	4	SQRDL	15	45954208	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	506160	45954208	56577184	903	63865											
SEMA6D	80031	broad.mit.edu	37	chr15	48056380	48056380	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccttttcagcatccctggTtctgctgtctgtgcatttag	8	11	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:48056380T>G	uc010bek.2	+	11	1335	c.975T>G	c.(973-975)GGT>GGG	p.G325G	SEMA6D_uc001zvw.2_Silent_p.G325G|SEMA6D_uc001zvx.1_Silent_p.G325G|SEMA6D_uc001zvy.2_Silent_p.G325G|SEMA6D_uc001zvz.2_Silent_p.G325G|SEMA6D_uc001zwa.2_Silent_p.G325G|SEMA6D_uc001zwb.2_Silent_p.G325G|SEMA6D_uc001zwc.2_Silent_p.G325G	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	325	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GCATCCCTGGTTCTGCTGTCT	0.458													G	48056380	T	G	48056380	2	3	96	1	0	0	0	0	0	0	0	1	14042	1712	60	5		5	SEMA6D	15	48056380	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2102172	48056380	54475012	904	63866											
SLC27A2	11001	broad.mit.edu	37	chr15	50519317	50519317	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atttcaacagtggagatctcTtaatggttgaccatgaaaat	8	6	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:50519317T>A	uc001zxw.2	+	7	1631	c.1399T>A	c.(1399-1401)TTA>ATA	p.L467I	SLC27A2_uc010bes.2_Missense_Mutation_p.L414I|SLC27A2_uc001zxx.2_Missense_Mutation_p.L232I	NM_003645	NP_003636	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid	467	Cytoplasmic (Potential).				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			ovary(1)|skin(1)	2		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TGGAGATCTCTTAATGGTTGA	0.393													A	50519317	T	A	50519317	3	1	96	1	0	0	0	0	1	0	0	0	14526	1606	56	5	1425	5	SLC27A2	15	50519317	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2462937	50519317	52012075	905	63867											
HDC	3067	broad.mit.edu	37	chr15	50546770	50546770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcgggcatttaggcaggacTcatcagcatcgggctcagac	13	11	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:50546770T>C	uc001zxz.2	-	5	639	c.533A>G	c.(532-534)GAG>GGG	p.E178G	HDC_uc001zxy.2_5'Flank|HDC_uc010uff.1_Missense_Mutation_p.E178G|HDC_uc010bet.1_Missense_Mutation_p.E99G|HDC_uc010beu.1_Missense_Mutation_p.E178G	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	178					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TAGGCAGGACTCATCAGCATC	0.557													C	50546770	T	C	50546770	3	2	96	1	0	0	0	0	1	0	0	0	7015	1551	54	3	1487	3	HDC	15	50546770	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	27453	50546770	51984622	906	63868											
CYP19A1	1588	broad.mit.edu	37	chr15	51507411	51507411	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactggttcacattctctcTtgtcaggtcaccacgtttct	7	13	6	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:51507411T>C	uc001zyz.3	-	9	1128	c.877A>G	c.(877-879)AGA>GGA	p.R293G	CYP19A1_uc001zza.3_Missense_Mutation_p.R293G|CYP19A1_uc001zzb.2_Missense_Mutation_p.R293G	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	293					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	ACATTCTCTCTTGTCAGGTCA	0.418													C	51507411	T	C	51507411	3	2	96	1	0	0	0	0	1	0	0	0	4148	1617	56	3	646	3	CYP19A1	15	51507411	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	960641	51507411	51023981	907	63869											
DMXL2	23312	broad.mit.edu	37	chr15	51772992	51772992	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagatcactctctactTtggaatatgtcttactggaa	7	10	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:51772992T>C	uc002abf.2	-	24	6536	c.6311A>G	c.(6310-6312)AAA>AGA	p.K2104R	DMXL2_uc002abd.2_Missense_Mutation_p.K174R|DMXL2_uc010ufy.1_Missense_Mutation_p.K2104R|DMXL2_uc010bfa.2_Missense_Mutation_p.K1468R	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2104						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		ACTCTCTACTTTGGAATATGT	0.373													C	51772992	T	C	51772992	3	2	96	1	0	0	0	0	1	0	0	0	4595	1841	64	3	2882	3	DMXL2	15	51772992	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	265581	51772992	50758400	908	63870											
DMXL2	23312	broad.mit.edu	37	chr15	51783905	51783905	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taatcagttcttcttcagccTcagaatgaaaagcccaggca	7	11	5	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:51783905T>G	uc002abf.2	-	20	5048	c.4823A>C	c.(4822-4824)GAG>GCG	p.E1608A	DMXL2_uc010ufy.1_Missense_Mutation_p.E1608A|DMXL2_uc010bfa.2_Missense_Mutation_p.E972A	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1608						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		TTCTTCAGCCTCAGAATGAAA	0.393													G	51783905	T	G	51783905	3	3	96	1	0	0	0	0	1	0	0	0	4595	1551	54	5	4386	5	DMXL2	15	51783905	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	10913	51783905	50747487	909	63871											
MYO5A	4644	broad.mit.edu	37	chr15	52725446	52725446	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcagctctgctgacttccAgacttcctctggatcaggta	10	12	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:52725446A>G	uc002aby.2	-	2	308	c.64T>C	c.(64-66)TGG>CGG	p.W22R	MYO5A_uc002abx.3_Missense_Mutation_p.W22R|MYO5A_uc010uge.1_5'UTR	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	22	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GCTGACTTCCAGACTTCCTCT	0.378													G	52725446	A	G	52725446	3	3	96	1	0	0	0	0	1	0	0	0	10078	188	7	3	5663	3	MYO5A	15	52725446	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	941541	52725446	49805946	910	63872											
UNC13C	440279	broad.mit.edu	37	chr15	54305506	54305506	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcattaaatgaactaaggAgtagcacagaaaaccaggca	8	7	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:54305506A>C	uc002ack.2	+	1	406	c.406A>C	c.(406-408)AGT>CGT	p.S136R		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	136					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGAACTAAGGAGTAGCACAGA	0.443													C	54305506	A	C	54305506	3	2	96	1	0	0	0	0	1	0	0	0	16983	304	11	5	408	5	UNC13C	15	54305506	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1580060	54305506	48225886	911	63873											
PIGB	9488	broad.mit.edu	37	chr15	55612587	55612587	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atactggcagtctcttgaagTttcacatcacatggttttca	7	9	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:55612587T>G	uc002act.2	+	2	594	c.278T>G	c.(277-279)GTT>GGT	p.V93G	uc002acs.2_5'Flank|PIGB_uc010ugg.1_Intron	NM_004855	NP_004846	Q92521	PIGB_HUMAN	phosphatidylinositol glycan, class B	93					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity				0				all cancers(107;0.0255)		TCTCTTGAAGTTTCACATCAC	0.328													G	55612587	T	G	55612587	3	3	96	1	0	0	0	0	1	0	0	0	11885	1725	60	5	284	5	PIGB	15	55612587	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1307081	55612587	46918805	912	63874											
ZNF280D	54816	broad.mit.edu	37	chr15	56981564	56981564	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggtaatacagctgaggAatttgctccagaaacacttt	9	7	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:56981564A>C	uc002adu.2	-	8	821	c.604T>G	c.(604-606)TCC>GCC	p.S202A	ZNF280D_uc002adv.2_Missense_Mutation_p.S189A|ZNF280D_uc010bfq.2_Missense_Mutation_p.S202A|ZNF280D_uc002adw.1_Missense_Mutation_p.S230A|ZNF280D_uc010bfr.1_RNA	NM_017661	NP_060131	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		ACAGCTGAGGAATTTGCTCCA	0.358													C	56981564	A	C	56981564	3	2	96	1	0	0	0	0	1	0	0	0	17814	246	9	5	2395	5	ZNF280D	15	56981564	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1368977	56981564	45549828	913	63875											
RNF111	54778	broad.mit.edu	37	chr15	59373169	59373169	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccacttcatcatcaagcTtctgcctgcccgcattctca	6	16	5	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:59373169T>C	uc002afv.2	+	8	2262	c.1983T>C	c.(1981-1983)GCT>GCC	p.A661A	RNF111_uc002afs.2_Silent_p.A661A|RNF111_uc002aft.2_Silent_p.A661A|RNF111_uc002afu.2_Silent_p.A660A|RNF111_uc002afw.2_Silent_p.A661A|RNF111_uc002afx.2_Silent_p.A187A	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	661	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)		ATCATCAAGCTTCTGCCTGCC	0.438													C	59373169	T	C	59373169	2	2	96	1	0	0	0	0	0	0	0	1	13425	1596	56	3		3	RNF111	15	59373169	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2391605	59373169	43158223	914	63876											
MYO1E	4643	broad.mit.edu	37	chr15	59500962	59500962	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatctgcatctgaagtttcTggagcagcgtctgatctgcc	10	11	5	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:59500962T>C	uc002aga.2	-	14	1820	c.1448A>G	c.(1447-1449)CAG>CGG	p.Q483R		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	483	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)		CTGAAGTTTCTGGAGCAGCGT	0.517													C	59500962	T	C	59500962	3	2	96	1	0	0	0	0	1	0	0	0	10072	1580	55	3	1938	3	MYO1E	15	59500962	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	127793	59500962	43030430	915	63877											
MYO1E	4643	broad.mit.edu	37	chr15	59553637	59553637	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accgctccttggtacatttcAatttccttttccccaaaata	3	13	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:59553637A>C	uc002aga.2	-	3	591	c.219T>G	c.(217-219)ATT>ATG	p.I73M		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	73	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)		GGTACATTTCAATTTCCTTTT	0.363													C	59553637	A	C	59553637	3	2	96	1	0	0	0	0	1	0	0	0	10072	126	5	5	3211	5	MYO1E	15	59553637	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	52675	59553637	42977755	916	63878											
USP3	9960	broad.mit.edu	37	chr15	63882994	63882994	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catccttttctacgtggaacAccaggccaaagctggatcgg	10	12	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:63882994A>G	uc002amf.2	+	15	1661	c.1532A>G	c.(1531-1533)CAC>CGC	p.H511R	USP3_uc002amg.2_Missense_Mutation_p.H426R|USP3_uc002amh.2_Missense_Mutation_p.H489R|USP3_uc010uij.1_Missense_Mutation_p.H467R|USP3_uc010uik.1_Missense_Mutation_p.H262R|USP3_uc010bgs.2_Missense_Mutation_p.H494R|USP3_uc002ami.2_Missense_Mutation_p.H342R|uc002amj.2_Intron|uc002amk.2_Intron|uc002aml.2_Intron	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN	ubiquitin thiolesterase 3	511					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(80;0.0187)		TACGTGGAACACCAGGCCAAA	0.458													G	63882994	A	G	63882994	3	3	96	1	0	0	0	0	1	0	0	0	17057	159	6	3	1590	3	USP3	15	63882994	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4329357	63882994	38648398	917	63879											
LARP6	55323	broad.mit.edu	37	chr15	71124941	71124941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggatgctcgcagtgggcTcctcgtcatgatttttgtct	13	9	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:71124941T>C	uc002ass.2	-	3	997	c.926A>G	c.(925-927)GAG>GGG	p.E309G		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	309					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0						CGCAGTGGGCTCCTCGTCATG	0.493													C	71124941	T	C	71124941	3	2	96	1	0	0	0	0	1	0	0	0	8632	1551	54	3	553	3	LARP6	15	71124941	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	7241947	71124941	31406451	918	63880											
SEMA7A	8482	broad.mit.edu	37	chr15	74704005	74704005	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catagacctcacacaggtccAggggcacctggctcacctcc	9	17	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:74704005A>G	uc002axv.2	-	12	1509	c.1469T>C	c.(1468-1470)CTG>CCG	p.L490P	SEMA7A_uc010ulk.1_Missense_Mutation_p.L325P|SEMA7A_uc010ull.1_Missense_Mutation_p.L476P	NM_003612	NP_003603	O75326	SEM7A_HUMAN	semaphorin 7A isoform 1 preproprotein	490	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(1)|central_nervous_system(1)	2						ACACAGGTCCAGGGGCACCTG	0.647													G	74704005	A	G	74704005	3	3	96	1	0	0	0	0	1	0	0	0	14043	188	7	3	543	3	SEMA7A	15	74704005	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3579064	74704005	27827387	919	63881											
PTPN9	5780	broad.mit.edu	37	chr15	75798030	75798030	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acttacatggaacagtggaaAgtgccaacagggttctcacg	11	9	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:75798030A>T	uc002bal.2	-	7	1462	c.954T>A	c.(952-954)ACT>ACA	p.T318T		NM_002833	NP_002824	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type	318	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			lung(1)|skin(1)	2						AACAGTGGAAAGTGCCAACAG	0.483													T	75798030	A	T	75798030	2	4	96	1	0	0	0	0	0	0	0	1	12794	59	3	5		5	PTPN9	15	75798030	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1094025	75798030	26733362	920	63882											
C15orf27	123591	broad.mit.edu	37	chr15	76449088	76449088	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaacttctaatagatataaAgcttctccagtgtgagtagc	9	7	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:76449088A>C	uc002bbq.2	+	4	526	c.371A>C	c.(370-372)AAG>ACG	p.K124T	C15orf27_uc010bkp.2_Intron|C15orf27_uc002bbr.2_Intron	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	hypothetical protein LOC123591	124						integral to membrane					0						ATAGATATAAAGCTTCTCCAG	0.428													C	76449088	A	C	76449088	3	2	96	1	0	0	0	0	1	0	0	0	1788	72	3	5	381	5	C15orf27	15	76449088	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	651058	76449088	26082304	921	63883											
SCAPER	49855	broad.mit.edu	37	chr15	76673782	76673782	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtaaactctgaatggccacTtggatggtattttgagtgta	11	6	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:76673782T>C	uc002bby.2	-	27	3701	c.3642A>G	c.(3640-3642)CAA>CAG	p.Q1214Q	SCAPER_uc010bkr.2_Silent_p.Q522Q|SCAPER_uc002bbx.2_Silent_p.Q968Q|SCAPER_uc002bbz.1_Silent_p.Q1085Q	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1213						endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						GAATGGCCACTTGGATGGTAT	0.448													C	76673782	T	C	76673782	2	2	96	1	0	0	0	0	0	0	0	1	13878	1606	56	3		3	SCAPER	15	76673782	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	224694	76673782	25857610	922	63884											
ACSBG1	23205	broad.mit.edu	37	chr15	78486286	78486286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactcaccctgcaaatactGtgcccactgccgagaagaac	7	16	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:78486286G>A	uc002bdh.2	-	4	586	c.530C>T	c.(529-531)ACA>ATA	p.T177I	ACSBG1_uc010umw.1_Missense_Mutation_p.T173I|ACSBG1_uc010umx.1_Intron|ACSBG1_uc010umy.1_Missense_Mutation_p.T70I	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	lipidosin	177					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			ovary(1)	1						TGCAAATACTGTGCCCACTGC	0.637													A	78486286	G	A	78486286	3	1	96	1	0	0	0	0	1	0	0	0	173	1377	48	4	1688	4	ACSBG1	15	78486286	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	1812504	78486286	24045106	923	63885											
RASGRF1	5923	broad.mit.edu	37	chr15	79350698	79350698	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccttcagccgctcgatcTcgatctccccatcctcgatc	6	19	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:79350698T>G	uc002beq.2	-	3	884	c.509A>C	c.(508-510)GAG>GCG	p.E170A	RASGRF1_uc002bep.2_Missense_Mutation_p.E170A|RASGRF1_uc010blm.1_Missense_Mutation_p.E92A|RASGRF1_uc002ber.3_Missense_Mutation_p.E170A	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	170					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						CCGCTCGATCTCGATCTCCCC	0.612													G	79350698	T	G	79350698	3	3	96	1	0	0	0	0	1	0	0	0	13072	1551	54	5	3416	5	RASGRF1	15	79350698	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	864412	79350698	23180694	924	63886											
IL16	3603	broad.mit.edu	37	chr15	81592241	81592241	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcaactgcctgacaaaggAgcccagagactgagcctcca	9	14	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:81592241A>C	uc002bgh.3	+	14	2950	c.2574A>C	c.(2572-2574)GGA>GGC	p.G858G	IL16_uc010blq.1_Silent_p.G812G|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.G900G|IL16_uc002bgg.2_Silent_p.G858G|IL16_uc002bgi.1_Silent_p.G248G|IL16_uc002bgj.2_Silent_p.G352G|IL16_uc002bgk.2_Silent_p.G157G|IL16_uc002bgl.1_Silent_p.G157G|IL16_uc010unq.1_Silent_p.G157G	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	858					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						CTGACAAAGGAGCCCAGAGAC	0.512													C	81592241	A	C	81592241	2	2	96	1	0	0	0	0	0	0	0	1	7633	291	11	5		5	IL16	15	81592241	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2241543	81592241	20939151	925	63887											
FSD2	123722	broad.mit.edu	37	chr15	83447586	83447586	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggtctggtcttcaaacTcaggctgtgcagagatttcc	10	11	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:83447586T>G	uc002bjd.2	-	6	1210	c.1043A>C	c.(1042-1044)GAG>GCG	p.E348A	FSD2_uc010uol.1_Missense_Mutation_p.E348A|FSD2_uc010uom.1_Missense_Mutation_p.E348A	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing	348										central_nervous_system(1)	1						GTCTTCAAACTCAGGCTGTGC	0.483													G	83447586	T	G	83447586	3	3	96	1	0	0	0	0	1	0	0	0	6071	1551	54	5	1238	5	FSD2	15	83447586	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1855345	83447586	19083806	926	63888											
ZNF592	9640	broad.mit.edu	37	chr15	85326908	85326908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccaaagagtccccggagCcctctggaggccactagaaa	10	14	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:85326908C>T	uc002bld.2	+	4	1338	c.1002C>T	c.(1000-1002)AGC>AGT	p.S334S	ZNF592_uc010upb.1_RNA	NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	334					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(2)	6			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTCCCCGGAGCCCTCTGGAGG	0.557													T	85326908	C	T	85326908	2	4	96	1	0	0	0	0	0	0	0	1	18019	738	26	2		2	ZNF592	15	85326908	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	1879322	85326908	17204484	927	63889											
ALPK3	57538	broad.mit.edu	37	chr15	85383097	85383097	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcaaagctgcgcgagaTcgagcagagctggaagcacg	16	10	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:85383097T>G	uc002ble.2	+	5	1360	c.1193T>G	c.(1192-1194)ATC>AGC	p.I398S		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	398					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTGCGCGAGATCGAGCAGAGC	0.637													G	85383097	T	G	85383097	3	3	96	1	0	0	0	0	1	0	0	0	546	1435	50	5	1211	5	ALPK3	15	85383097	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	56189	85383097	17148295	928	63890											
ALPK3	57538	broad.mit.edu	37	chr15	85411511	85411511	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagtccatctgctggcaggAaaggctcccagctgagtcct	12	12	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:85411511A>G	uc002ble.2	+	14	5715	c.5548A>G	c.(5548-5550)AAA>GAA	p.K1850E	ALPK3_uc010upc.1_Missense_Mutation_p.K151E	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1850					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGCTGGCAGGAAAGGCTCCCA	0.632													G	85411511	A	G	85411511	3	3	96	1	0	0	0	0	1	0	0	0	546	247	9	3	5602	3	ALPK3	15	85411511	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	28414	85411511	17119881	929	63891											
PDE8A	5151	broad.mit.edu	37	chr15	85656658	85656658	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccggatacattccatgacaAttgaggcgcccatcaccaag	8	14	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:85656658A>T	uc002blh.2	+	13	1354	c.1165A>T	c.(1165-1167)ATT>TTT	p.I389F	PDE8A_uc002bli.2_Missense_Mutation_p.I343F|PDE8A_uc010bnc.2_Missense_Mutation_p.I142F|PDE8A_uc010bnd.2_Missense_Mutation_p.I142F|PDE8A_uc002blj.2_Missense_Mutation_p.I9F|PDE8A_uc002blk.2_Missense_Mutation_p.I9F	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	389					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TTCCATGACAATTGAGGCGCC	0.502													T	85656658	A	T	85656658	3	4	96	1	0	0	0	0	1	0	0	0	11653	101	4	5	1215	5	PDE8A	15	85656658	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	245147	85656658	16874734	930	63892											
DET1	55070	broad.mit.edu	37	chr15	89074106	89074106	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccatgcctgtctgactgtcCcgctgtacctcagggaaaac	10	14	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:89074106C>G	uc002bmr.2	-	2	983	c.831G>C	c.(829-831)CGG>CGC	p.R277R	DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Silent_p.R288R	NM_001144074	NP_001137546	Q7L5Y6	DET1_HUMAN	de-etiolated 1 isoform 2	277						nucleus				lung(1)|pancreas(1)	2	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TCTGACTGTCCCGCTGTACCT	0.522													G	89074106	C	G	89074106	2	3	96	1	0	0	0	0	0	0	0	1	4450	610	22	5		5	DET1	15	89074106	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	3417448	89074106	13457286	931	63893											
IQGAP1	8826	broad.mit.edu	37	chr15	91009655	91009655	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgaagccaagaagaaAaaactggcagtaggtgagtt	12	6	0	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:91009655A>C	uc002bpl.1	+	17	2123	c.2022A>C	c.(2020-2022)AAA>AAC	p.K674N		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	674					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CCAAGAAGAAAAAACTGGCAG	0.463													C	91009655	A	C	91009655	3	2	96	1	0	0	0	0	1	0	0	0	7814	11	1	5	2088	5	IQGAP1	15	91009655	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1935549	91009655	11521737	932	63894											
BLM	641	broad.mit.edu	37	chr15	91358410	91358410	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagttcagcctcacatacTtctcaagcgacatcaggagc	7	14	4	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:91358410T>C	uc002bpr.2	+	22	4252	c.4155T>C	c.(4153-4155)ACT>ACC	p.T1385T	BLM_uc010uqh.1_Silent_p.T1385T|BLM_uc010uqi.1_Silent_p.T1010T|BLM_uc010bnx.2_Silent_p.T1254T|BLM_uc002bpt.2_Silent_p.T360T	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	1385					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CCTCACATACTTCTCAAGCGA	0.423			Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				C	91358410	T	C	91358410	2	2	96	1	0	0	0	0	0	0	0	1	1445	1596	56	3		3	BLM	15	91358410	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	348755	91358410	11172982	933	63895											
C15orf32	145858	broad.mit.edu	37	chr15	93015408	93015408	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaacaagtgtggatgcttcAaaggaagacttgcacccggc	12	9	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:93015408A>G	uc002brc.1	+	1	502	c.30A>G	c.(28-30)TCA>TCG	p.S10S	C15orf32_uc010bod.1_RNA	NM_153040	NP_694585	Q32M92	CO032_HUMAN	hypothetical protein LOC145858	10										ovary(1)	1	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			TGGATGCTTCAAAGGAAGACT	0.338													G	93015408	A	G	93015408	2	3	96	1	0	0	0	0	0	0	0	1	1790	117	5	3		3	C15orf32	15	93015408	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1656998	93015408	9515984	934	63896											
SPATA8	145946	broad.mit.edu	37	chr15	97326897	97326897	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatgaggaatggccccggcTgggatgtcaggggcccagga	18	10	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:97326897T>C	uc002bue.2	+	1	222	c.12T>C	c.(10-12)GCT>GCC	p.A4A	uc010uro.1_5'Flank|uc010urp.1_5'Flank|uc002bud.1_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	4										ovary(1)|skin(1)	2	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			TGGCCCCGGCTGGGATGTCAG	0.577													C	97326897	T	C	97326897	2	2	96	1	0	0	0	0	0	0	0	1	15014	1567	55	3		3	SPATA8	15	97326897	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4311489	97326897	5204495	935	63897											
IGF1R	3480	broad.mit.edu	37	chr15	99192862	99192862	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcgctgtgggggctcctgTttctctccgccgcgctctcg	12	17	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:99192862T>A	uc002bul.2	+	1	102	c.52T>A	c.(52-54)TTT>ATT	p.F18I	IGF1R_uc010urq.1_Missense_Mutation_p.F18I|IGF1R_uc010bon.2_Missense_Mutation_p.F18I	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	18					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GGGGCTCCTGTTTCTCTCCGC	0.572													A	99192862	T	A	99192862	3	1	96	1	0	0	0	0	1	0	0	0	7571	1725	60	5	54	5	IGF1R	15	99192862	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1865965	99192862	3338530	936	63898											
TTC23	64927	broad.mit.edu	37	chr15	99696485	99696485	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttggcttccagggactctctCaggatcgaggttgctctctg	12	11	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:99696485C>T	uc002bur.2	-	11	1542	c.1011G>A	c.(1009-1011)CTG>CTA	p.L337L	TTC23_uc002bus.2_Silent_p.L337L|TTC23_uc002but.2_Silent_p.L337L|TTC23_uc002buu.2_Silent_p.L337L|TTC23_uc002buv.2_Silent_p.L337L|TTC23_uc002bux.2_Silent_p.L337L|TTC23_uc002buw.2_Silent_p.L337L|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Silent_p.L337L|TTC23_uc010bor.2_Silent_p.L337L|TTC23_uc002buz.2_Silent_p.L337L	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	337							binding				0	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GGGACTCTCTCAGGATCGAGG	0.502													T	99696485	C	T	99696485	2	4	96	1	0	0	0	0	0	0	0	1	16687	813	29	4		4	TTC23	15	99696485	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	503623	99696485	2834907	937	63899											
LRRK1	79705	broad.mit.edu	37	chr15	101609038	101609038	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggccggctggaggcttgcacTcgcaagagaaggtaattcct	14	10	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr15:101609038T>A	uc002bwr.2	+	34	6352	c.6033T>A	c.(6031-6033)ACT>ACA	p.T2011T	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	2011					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGGCTTGCACTCGCAAGAGAA	0.617													A	101609038	T	A	101609038	2	1	96	1	0	0	0	0	0	0	0	1	9032	1538	54	5		5	LRRK1	15	101609038	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1912553	101609038	922354	938	63900											
NUBP2	10101	broad.mit.edu	37	chr16	1836884	1836884	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaccgggagcagagcatcTcgctcatgtctgtgggcttc	14	11	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:1836884T>C	uc002cmw.3	+	3	351	c.262T>C	c.(262-264)TCG>CCG	p.S88P	NUBP2_uc002cmx.3_Intron|NUBP2_uc010brx.2_Missense_Mutation_p.S28P	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2 (MinD homolog, E.	88						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding				0						GCAGAGCATCTCGCTCATGTC	0.697													C	1836884	T	C	1836884	3	2	96	1	0	0	0	0	1	0	0	0	10716	1551	54	3	272	3	NUBP2	16	1836884	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08		1836884	88517869	939	63901											
RPL3L	6123	broad.mit.edu	37	chr16	1995925	1995925	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttccccgtagtgggggaAgccaccctgcagaggacaca	12	14	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:1995925A>C	uc002cnh.2	-	8	1005	c.958T>G	c.(958-960)TTC>GTC	p.F320V	SEPX1_uc010uvs.1_5'Flank	NM_005061	NP_005052	Q92901	RL3L_HUMAN	ribosomal protein L3-like	320					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome				0						TAGTGGGGGAAGCCACCCTGC	0.597													C	1995925	A	C	1995925	3	2	96	1	0	0	0	0	1	0	0	0	13594	72	3	5	277	5	RPL3L	16	1995925	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	159041	1995925	88358828	940	63902											
ZSCAN10	84891	broad.mit.edu	37	chr16	3140576	3140576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgggactctgctaagatggGagtgggccaggcagcccctt	15	11	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:3140576G>A	uc002ctv.1	-	5	782	c.694C>T	c.(694-696)CCC>TCC	p.P232S	ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Missense_Mutation_p.P150S|ZSCAN10_uc002ctx.1_Missense_Mutation_p.P160S	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	232					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						GCTAAGATGGGAGTGGGCCAG	0.607													A	3140576	G	A	3140576	3	1	96	1	0	0	0	0	1	0	0	0	18224	1174	41	4	1487	4	ZSCAN10	16	3140576	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	1144651	3140576	87214177	941	63903											
C16orf71	146562	broad.mit.edu	37	chr16	4787904	4787904	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatcctgccgatggcgacaAgtccagggcctgggtcgctg	15	12	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:4787904A>C	uc002cxn.2	+	3	695	c.233A>C	c.(232-234)AAG>ACG	p.K78T		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	hypothetical protein LOC146562	78										central_nervous_system(1)	1						GATGGCGACAAGTCCAGGGCC	0.557													C	4787904	A	C	4787904	3	2	96	1	0	0	0	0	1	0	0	0	1830	72	3	5	239	5	C16orf71	16	4787904	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1647328	4787904	85566849	942	63904											
PPL	5493	broad.mit.edu	37	chr16	4951037	4951037	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagatgttatgctcctccacTtggtggtccaccagcggcag	11	12	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:4951037T>G	uc002cyd.1	-	5	582	c.492A>C	c.(490-492)CAA>CAC	p.Q164H		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	164					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						GCTCCTCCACTTGGTGGTCCA	0.617													G	4951037	T	G	4951037	3	3	96	1	0	0	0	0	1	0	0	0	12334	1606	56	5	4850	5	PPL	16	4951037	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	163133	4951037	85403716	943	63905											
GRIN2A	2903	broad.mit.edu	37	chr16	10274067	10274067	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcagcagagctaccacgtTcacgtccaggggcagccccg	11	16	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:10274067T>G	uc002czo.3	-	2	750	c.202A>C	c.(202-204)AAC>CAC	p.N68H	GRIN2A_uc010uym.1_Missense_Mutation_p.N68H|GRIN2A_uc002czr.3_Missense_Mutation_p.N68H|GRIN2A_uc010buk.2_Missense_Mutation_p.N68H	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	68	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCTACCACGTTCACGTCCAGG	0.637													G	10274067	T	G	10274067	3	3	96	1	0	0	0	0	1	0	0	0	6779	1783	62	5	4240	5	GRIN2A	16	10274067	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5323030	10274067	80080686	944	63906											
CLEC16A	23274	broad.mit.edu	37	chr16	11217681	11217681	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtccagcccccattccaAgcccttccccatcctccagg	6	21	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:11217681A>C	uc002dao.2	+	21	2581	c.2351A>C	c.(2350-2352)AAG>ACG	p.K784T	CLEC16A_uc002dan.3_Missense_Mutation_p.K766T|CLEC16A_uc002dap.2_5'Flank	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	784										ovary(1)|central_nervous_system(1)	2						CCCCATTCCAAGCCCTTCCCC	0.617													C	11217681	A	C	11217681	3	2	96	1	0	0	0	0	1	0	0	0	3500	72	3	5	2429	5	CLEC16A	16	11217681	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	943614	11217681	79137072	945	63907											
GPR139	124274	broad.mit.edu	37	chr16	20043272	20043272	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgatgaagcagtagaggaAgaagttgatggctgtgttca	15	4	1	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:20043272A>C	uc002dgu.1	-	2	1009	c.847T>G	c.(847-849)TTC>GTC	p.F283V	GPR139_uc010vaw.1_Missense_Mutation_p.F190V	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	283	Helical; Name=7; (Potential).					integral to membrane|plasma membrane				ovary(2)	2						CAGTAGAGGAAGAAGTTGATG	0.537													C	20043272	A	C	20043272	3	2	96	1	0	0	0	0	1	0	0	0	6648	72	3	5	218	5	GPR139	16	20043272	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	8825591	20043272	70311481	946	63908											
NDUFAB1	4706	broad.mit.edu	37	chr16	23593647	23593647	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaatgtaatctacaatTtcttgtggacacattaactt	5	8	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:23593647T>G	uc002dlw.2	-	4	457	c.429A>C	c.(427-429)GAA>GAC	p.E143D		NM_005003	NP_004994	O14561	ACPM_HUMAN	NADH dehydrogenase (ubiquinone) 1, alpha/beta	143					fatty acid biosynthetic process|mitochondrial electron transport, NADH to ubiquinone	mitochondrial matrix|mitochondrial respiratory chain complex I	acyl carrier activity|calcium ion binding|cofactor binding|fatty acid binding|NADH dehydrogenase (ubiquinone) activity|phosphopantetheine binding				0				GBM - Glioblastoma multiforme(48;0.0339)	NADH(DB00157)	AATCTACAATTTCTTGTGGAC	0.289													G	23593647	T	G	23593647	3	3	96	1	0	0	0	0	1	0	0	0	10273	1838	64	5	45	5	NDUFAB1	16	23593647	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3550375	23593647	66761106	947	63909											
C16orf82	162083	broad.mit.edu	37	chr16	27078600	27078600	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcgggtacgcaggggacaAggagggcagcgacatcagct	17	10	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:27078600A>C	uc010vcm.1	+	1	382	c.284A>C	c.(283-285)AAG>ACG	p.K95T		NM_001145545	NP_001139017	Q7Z2V1	TNT_HUMAN	hypothetical protein LOC162083	158											0						GCAGGGGACAAGGAGGGCAGC	0.647													C	27078600	A	C	27078600	3	2	96	1	0	0	0	0	1	0	0	0	1838	72	3	5	286	5	C16orf82	16	27078600	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3484953	27078600	63276153	948	63910											
ITGAL	3683	broad.mit.edu	37	chr16	30495458	30495458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaagcattttcagaccaagGagagtcaggagaccctccac	10	11	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:30495458G>A	uc002dyi.3	+	9	1056	c.880G>A	c.(880-882)GAG>AAG	p.E294K	ITGAL_uc010veu.1_RNA|ITGAL_uc002dyj.3_Missense_Mutation_p.E211K|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	294	VWFA.|Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	TCAGACCAAGGAGAGTCAGGA	0.443													A	30495458	G	A	30495458	3	1	96	1	0	0	0	0	1	0	0	0	7886	1175	41	4	914	4	ITGAL	16	30495458	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	3416858	30495458	59859295	949	63911											
PRR14	78994	broad.mit.edu	37	chr16	30667596	30667596	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgccttgctcctggaggaAgaaacagtagatcgggagca	14	8	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:30667596A>C	uc002dyy.2	+	12	1980	c.1722A>C	c.(1720-1722)GAA>GAC	p.E574D	PRR14_uc002dyz.2_Missense_Mutation_p.E419D|PRR14_uc002dza.2_Missense_Mutation_p.E574D	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	proline rich 14	574											0			Colorectal(24;0.103)			TCCTGGAGGAAGAAACAGTAG	0.592													C	30667596	A	C	30667596	3	2	96	1	0	0	0	0	1	0	0	0	12586	69	3	5	1764	5	PRR14	16	30667596	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	172138	30667596	59687157	950	63912											
SRCAP	10847	broad.mit.edu	37	chr16	30733499	30733499	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggcacaacgtccagtggctAatgcagggggaagcaaacct	13	10	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:30733499A>T	uc002dze.1	+	22	3983	c.3598A>T	c.(3598-3600)AAT>TAT	p.N1200Y	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.N1057Y|SRCAP_uc010bzz.1_Missense_Mutation_p.N770Y	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1200	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			TCCAGTGGCTAATGCAGGGGG	0.572													T	30733499	A	T	30733499	3	4	96	1	0	0	0	0	1	0	0	0	15134	362	13	5	3676	5	SRCAP	16	30733499	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	65903	30733499	59621254	951	63913											
ORAI3	93129	broad.mit.edu	37	chr16	30964606	30964606	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctggtggctgtgcaccTctttgcactcatggtctcca	11	13	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:30964606T>G	uc002eac.2	+	2	535	c.329T>G	c.(328-330)CTC>CGC	p.L110R		NM_152288	NP_689501	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator	110	Helical; (Potential).					integral to membrane	protein binding				0						GCTGTGCACCTCTTTGCACTC	0.602											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	30964606	T	G	30964606	3	3	96	1	0	0	0	0	1	0	0	0	11259	1551	54	5	335	5	ORAI3	16	30964606	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	231107	30964606	59390147	952	63914											
ITGAD	3681	broad.mit.edu	37	chr16	31405555	31405555	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccaccaaatattcctcAgtcctggcttcttatcatgg	6	15	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:31405555A>G	uc002ebv.1	+	2	81	c.32_splice	c.e2-2	p.V11_splice	ITGAD_uc010vfl.1_Splice_Site_p.V11_splice|ITGAD_uc010cap.1_Splice_Site_p.V11_splice	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor						cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						AATATTCCTCAGTCCTGGCTT	0.483													G	31405555	A	G	31405555	5	3	96	1	0	0	0	0	0	0	1	0	7884	202	7	3	36	3	ITGAD	16	31405555	Splice_Site	SNP	A	TCGA-BR-8589-01A-11D-2394-08	440949	31405555	58949198	953	63915											
MYLK3	91807	broad.mit.edu	37	chr16	46755107	46755107	+	Splice_Site	DEL	T	T	-													cgcacaatatgttctccggcTgggaaagaaagaagtctgct							TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:46755106_46755106CT>C	uc002eei.4	-	9	2031	c.1915_splice	c.e9-1	p.P639_splice	MYLK3_uc010vge.2_Splice_Site_p.P298_splice	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	639	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TGTTCTCCGGCTGGGAAAGAA	0.463													-	46755107	T	-	46755107	8	5	96	1	0	1	0	1	0	0	1	0	10058	1594	55	0	566	0	MYLK3	16	46755107	Splice_Site	DEL	T	TCGA-BR-8589-01A-11D-2394-08	15349552	46755107	43599646	954	63916											
CYLD	1540	broad.mit.edu	37	chr16	50830253	50830253	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggtggtcagaatggcttcaAcattcctcaagtcaccccat	8	12	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:50830253A>T	uc002egp.1	+	19	3120	c.2705A>T	c.(2704-2706)AAC>ATC	p.N902I	CYLD_uc002egq.1_Missense_Mutation_p.N899I|CYLD_uc002egr.1_Missense_Mutation_p.N899I	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	902					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				AATGGCTTCAACATTCCTCAA	0.458			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial				T	50830253	A	T	50830253	3	4	96	1	0	0	0	0	1	0	0	0	4143	43	2	5	2771	5	CYLD	16	50830253	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4075146	50830253	39524500	955	63917											
CCDC135	84229	broad.mit.edu	37	chr16	57760158	57760158	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggacagcaaaggcaacaAgatcatcatgacgcccgaca	11	11	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:57760158A>C	uc002emi.2	+	13	2026	c.1937A>C	c.(1936-1938)AAG>ACG	p.K646T	CCDC135_uc002emj.2_Missense_Mutation_p.K646T|CCDC135_uc002emk.2_Missense_Mutation_p.K581T	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	646						cytoplasm				central_nervous_system(1)	1						AAAGGCAACAAGATCATCATG	0.652													C	57760158	A	C	57760158	3	2	96	1	0	0	0	0	1	0	0	0	2769	72	3	5	1983	5	CCDC135	16	57760158	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	6929905	57760158	32594595	956	63918											
C16orf57	79650	broad.mit.edu	37	chr16	58048232	58048232	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaatcaagagaaaaccaggTgggtcctcccaacccccaat	7	15	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:58048232T>A	uc002emz.2	+	4	586	c.503_splice	c.e4+2	p.R168_splice	C16orf57_uc010vib.1_Intron	NM_024598	NP_078874	Q9BQ65	CP057_HUMAN	hypothetical protein LOC79650												0						GAAAACCAGGTGGGTCCTCCC	0.378													A	58048232	T	A	58048232	5	1	96	1	0	0	0	0	0	0	1	0	1821	1710	59	5	519	5	C16orf57	16	58048232	Splice_Site	SNP	T	TCGA-BR-8589-01A-11D-2394-08	288074	58048232	32306521	957	63919											
CSNK2A2	1459	broad.mit.edu	37	chr16	58201605	58201605	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacctgatagtccacgaggAgctctggtcccttgaagtac	10	11	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:58201605A>G	uc002enc.2	-	7	750	c.608T>C	c.(607-609)CTC>CCC	p.L203P		NM_001896	NP_001887	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	203	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						GTCCACGAGGAGCTCTGGTCC	0.443													G	58201605	A	G	58201605	3	3	96	1	0	0	0	0	1	0	0	0	3958	304	11	3	464	3	CSNK2A2	16	58201605	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	153373	58201605	32153148	958	63920											
NFATC3	4775	broad.mit.edu	37	chr16	68156367	68156367	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatttatgatgatgtggactCagagttgaatgaagctgcag	12	4	1	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:68156367C>T	uc002evo.1	+	2	791	c.581C>T	c.(580-582)TCA>TTA	p.S194L	NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.S194L|NFATC3_uc002evm.1_Missense_Mutation_p.S194L|NFATC3_uc002evn.1_Missense_Mutation_p.S194L|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells,	194					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GATGTGGACTCAGAGTTGAAT	0.493													T	68156367	C	T	68156367	3	4	96	1	0	0	0	0	1	0	0	0	10364	838	29	4	587	4	NFATC3	16	68156367	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	9954762	68156367	22198386	959	63921											
NFATC3	4775	broad.mit.edu	37	chr16	68225203	68225203	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattctgtgcataccctgccTcatctgcaatcaatgggata	7	12	4	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:68225203T>G	uc002evo.1	+	9	2841	c.2631T>G	c.(2629-2631)CCT>CCG	p.P877P	NFATC3_uc010vkl.1_Silent_p.P398P|NFATC3_uc010vkm.1_Silent_p.P398P|NFATC3_uc010vkn.1_Silent_p.P398P|NFATC3_uc010vko.1_Silent_p.P398P|NFATC3_uc010vkp.1_Silent_p.P398P|NFATC3_uc010vkq.1_Silent_p.P398P|NFATC3_uc002evl.2_Silent_p.P398P|NFATC3_uc002evk.2_Silent_p.P877P|NFATC3_uc002evm.1_Silent_p.P877P|NFATC3_uc002evn.1_Silent_p.P877P|NFATC3_uc010vkr.1_Silent_p.P398P|NFATC3_uc010vks.1_Silent_p.P398P|NFATC3_uc010vkt.1_Silent_p.P398P|NFATC3_uc010vku.1_Silent_p.P398P|NFATC3_uc010vkv.1_Silent_p.P398P|NFATC3_uc010vkw.1_Silent_p.P398P|NFATC3_uc010vkx.1_Silent_p.P398P|NFATC3_uc010vky.1_Silent_p.P398P|NFATC3_uc010vkz.1_Silent_p.P398P|NFATC3_uc010vla.1_Silent_p.P398P|NFATC3_uc010vlb.1_Silent_p.P398P|NFATC3_uc010vlc.1_Silent_p.P398P	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells,	877					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		ATACCCTGCCTCATCTGCAAT	0.443													G	68225203	T	G	68225203	2	3	96	1	0	0	0	0	0	0	0	1	10364	1538	54	5		5	NFATC3	16	68225203	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	68836	68225203	22129550	960	63922											
HYDIN	54768	broad.mit.edu	37	chr16	71008176	71008176	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcacaatgaggtagattcTttacacgatctagctcagta	7	8	4	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:71008176T>G	uc002ezr.2	-	33	5062	c.4934A>C	c.(4933-4935)AAG>ACG	p.K1645T		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	1646										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				AGGTAGATTCTTTACACGATC	0.418													G	71008176	T	G	71008176	3	3	96	1	0	0	0	0	1	0	0	0	7467	1609	56	5	10644	5	HYDIN	16	71008176	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2782973	71008176	19346577	961	63923											
FTSJD1	55783	broad.mit.edu	37	chr16	71317997	71317997	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcaatgaacagctaaaAgttgtgagttcagctgattc	10	6	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:71317997A>G	uc010cga.2	-	3	2233	c.1827T>C	c.(1825-1827)ACT>ACC	p.T609T	FTSJD1_uc002ezy.3_Silent_p.T609T|FTSJD1_uc002ezz.3_Silent_p.T609T	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN	FtsJ methyltransferase domain containing 1	609						integral to membrane	methyltransferase activity|nucleic acid binding			skin(1)	1						AACAGCTAAAAGTTGTGAGTT	0.418													G	71317997	A	G	71317997	2	3	96	1	0	0	0	0	0	0	0	1	6090	59	3	3		3	FTSJD1	16	71317997	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	309821	71317997	19036756	962	63924											
TAT	6898	broad.mit.edu	37	chr16	71610309	71610309	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcatctgaatcatgtAtgggtccatcactagcgaag	10	10	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:71610309A>G	uc002fap.2	-	2	109	c.10T>C	c.(10-12)TAC>CAC	p.Y4H	TAT_uc002faq.2_Missense_Mutation_p.Y4H|TAT_uc002far.2_Missense_Mutation_p.Y4H	NM_000353	NP_000344	P17735	ATTY_HUMAN	tyrosine aminotransferase	4					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(2)	2		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	TGAATCATGTATGGGTCCATC	0.507													G	71610309	A	G	71610309	3	3	96	1	0	0	0	0	1	0	0	0	15587	449	16	3	1398	3	TAT	16	71610309	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	292312	71610309	18744444	963	63925											
LDHD	197257	broad.mit.edu	37	chr16	75147704	75147704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactccaggaagagtgtgggCgccactaagcaattcagctt	11	10	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:75147704C>T	uc002fdm.2	-	7	1010	c.963G>A	c.(961-963)GCG>GCA	p.A321A	LDHD_uc002fdn.2_Silent_p.A298A	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	D-lactate dehydrogenase isoform 1 precursor	321							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding				0						AGAGTGTGGGCGCCACTAAGC	0.607													T	75147704	C	T	75147704	2	4	96	1	0	0	0	0	0	0	0	1	8703	755	27	1		1	LDHD	16	75147704	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	3537395	75147704	15207049	964	63926											
KARS	3735	broad.mit.edu	37	chr16	75664405	75664405	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccaggaactccccaacaAgcttaatgagaaagcaaagc	7	12	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:75664405A>C	uc002feq.2	-	11	1388	c.1340T>G	c.(1339-1341)CTT>CGT	p.L447R	KARS_uc002fer.2_Missense_Mutation_p.L475R|KARS_uc002fes.2_Missense_Mutation_p.L291R	NM_005548	NP_005539	Q15046	SYK_HUMAN	lysyl-tRNA synthetase isoform 2	447					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			ovary(2)	2					L-Lysine(DB00123)	CTCCCCAACAAGCTTAATGAG	0.423													C	75664405	A	C	75664405	3	2	96	1	0	0	0	0	1	0	0	0	7980	86	3	5	469	5	KARS	16	75664405	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	516701	75664405	14690348	965	63927											
CNTNAP4	85445	broad.mit.edu	37	chr16	76486611	76486611	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctttctgagtgatggAaaacttaagtcgaatctcta	7	9	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:76486611A>T	uc002feu.1	+	10	1663	c.1278A>T	c.(1276-1278)GGA>GGT	p.G426G	CNTNAP4_uc002fev.1_Silent_p.G290G|CNTNAP4_uc010chb.1_Silent_p.G353G|CNTNAP4_uc002fex.1_Silent_p.G429G|CNTNAP4_uc002few.2_Silent_p.G401G	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	426	Extracellular (Potential).|Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						TGAGTGATGGAAAACTTAAGT	0.433													T	76486611	A	T	76486611	2	4	96	1	0	0	0	0	0	0	0	1	3649	233	9	5		5	CNTNAP4	16	76486611	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	822206	76486611	13868142	966	63928											
PLCG2	5336	broad.mit.edu	37	chr16	81953163	81953163	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggggacctccgcctattTtgagagtctggtggagctcg	15	10	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:81953163T>C	uc002fgt.2	+	20	2281	c.2129T>C	c.(2128-2130)TTT>TCT	p.F710S	PLCG2_uc010chg.1_Missense_Mutation_p.F710S	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	710	SH2 2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						TCCGCCTATTTTGAGAGTCTG	0.577													C	81953163	T	C	81953163	3	2	96	1	0	0	0	0	1	0	0	0	12036	1841	64	3	2203	3	PLCG2	16	81953163	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5466552	81953163	8401590	967	63929											
SDR42E1	93517	broad.mit.edu	37	chr16	82033269	82033269	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggtccccgtagacaaacTtgaacagacccttctcgatg	10	12	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:82033269T>G	uc002fgu.2	-	3	757	c.629A>C	c.(628-630)AAG>ACG	p.K210T		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E,	210					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding				0						GTAGACAAACTTGAACAGACC	0.542													G	82033269	T	G	82033269	3	3	96	1	0	0	0	0	1	0	0	0	13973	1609	56	5	556	5	SDR42E1	16	82033269	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	80106	82033269	8321484	968	63930											
ZCCHC14	23174	broad.mit.edu	37	chr16	87446364	87446364	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgtccgcgctccctcTttccggcttgtgcacggaat	9	15	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr16:87446364T>C	uc002fjz.1	-	12	1579	c.1552A>G	c.(1552-1554)AGA>GGA	p.R518G	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.R294G	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	518					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GCGCTCCCTCTTTCCGGCTTG	0.547													C	87446364	T	C	87446364	3	2	96	1	0	0	0	0	1	0	0	0	17580	1617	56	3	1305	3	ZCCHC14	16	87446364	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5413095	87446364	2908389	969	63931											
SMYD4	114826	broad.mit.edu	37	chr17	1704257	1704257	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttacgtaacataatcTtgggttgcaacctttctgga	8	9	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:1704257T>A	uc002ftm.3	-	5	599	c.431A>T	c.(430-432)AAG>ATG	p.K144M	SMYD4_uc002ftn.1_Translation_Start_Site	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	144							zinc ion binding			skin(3)|kidney(2)	5						TAACATAATCTTGGGTTGCAA	0.473													A	1704257	T	A	1704257	3	1	96	1	0	0	0	0	1	0	0	0	14824	1609	56	5	2011	5	SMYD4	17	1704257	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08		1704257	79490953	970	63932											
SPATA22	84690	broad.mit.edu	37	chr17	3352328	3352328	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgttgagctcccgaacTcactggacaagaattttttc	8	9	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:3352328T>A	uc002fvm.2	-	6	682	c.445A>T	c.(445-447)AGT>TGT	p.S149C	SPATA22_uc010vrg.1_Missense_Mutation_p.S133C|SPATA22_uc010vrf.1_Missense_Mutation_p.S149C|SPATA22_uc002fvn.2_Missense_Mutation_p.S149C|SPATA22_uc002fvo.2_Missense_Mutation_p.S149C|SPATA22_uc002fvp.2_Missense_Mutation_p.S149C|SPATA22_uc010ckf.2_Missense_Mutation_p.S106C	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	149											0						GCTCCCGAACTCACTGGACAA	0.353													A	3352328	T	A	3352328	3	1	96	1	0	0	0	0	1	0	0	0	15007	1551	54	5	662	5	SPATA22	17	3352328	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1648071	3352328	77842882	971	63933											
P2RX5	5026	broad.mit.edu	37	chr17	3593927	3593927	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtaaccgcttccccagcGtggcagtcgctgtccttgga	12	14	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:3593927G>A	uc002fwi.2	-	4	692	c.408C>T	c.(406-408)CAC>CAT	p.H136H	P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Silent_p.H136H|P2RX5_uc010vrx.1_Silent_p.H76H|P2RX5_uc002fwj.2_Silent_p.H112H|P2RX5_uc002fwk.2_Silent_p.H136H|P2RX5_uc002fwl.2_Silent_p.H112H|P2RX5_uc002fwm.1_Silent_p.H136H	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	purinergic receptor P2X5 isoform A	136	Extracellular (Potential).				nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						CTTCCCCAGCGTGGCAGTCGC	0.647													A	3593927	G	A	3593927	2	1	96	1	0	0	0	0	0	0	0	1	11343	1136	40	1		1	P2RX5	17	3593927	Silent	SNP	G	TCGA-BR-8589-01A-11D-2394-08	241599	3593927	77601283	972	63934											
ANKFY1	51479	broad.mit.edu	37	chr17	4074022	4074022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcacccagcagtcggaaCaggagctgcttggtggcgac	13	13	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:4074022C>T	uc002fxq.1	-	23	3311	c.3273G>A	c.(3271-3273)CTG>CTA	p.L1091L	ANKFY1_uc002fxn.2_Silent_p.L1133L|ANKFY1_uc002fxo.2_Silent_p.L1092L|ANKFY1_uc002fxp.2_Silent_p.L1090L|ANKFY1_uc010ckp.2_Silent_p.L1033L	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1091						endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						GCAGTCGGAACAGGAGCTGCT	0.567													T	4074022	C	T	4074022	2	4	96	1	0	0	0	0	0	0	0	1	626	465	17	4		4	ANKFY1	17	4074022	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	480095	4074022	77121188	973	63935											
KIF1C	10749	broad.mit.edu	37	chr17	4925494	4925494	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcccaccacggtccagacCattgtcaaacgctgtggtct	9	16	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:4925494C>T	uc002gan.1	+	22	2444	c.2118C>T	c.(2116-2118)ACC>ACT	p.T706T		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	706					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						CGGTCCAGACCATTGTCAAAC	0.637													T	4925494	C	T	4925494	2	4	96	1	0	0	0	0	0	0	0	1	8285	581	21	4		4	KIF1C	17	4925494	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	851472	4925494	76269716	974	63936											
USP6	9098	broad.mit.edu	37	chr17	5044777	5044777	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttacagcaaatagtagtaAaatagatagacaaaagggta	8	3	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:5044777A>C	uc002gau.1	+	23	3786	c.1556A>C	c.(1555-1557)AAA>ACA	p.K519T	USP6_uc002gav.1_Missense_Mutation_p.K519T|USP6_uc010ckz.1_Missense_Mutation_p.K202T	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	519					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						AATAGTAGTAAAATAGATAGA	0.294			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								C	5044777	A	C	5044777	3	2	96	1	0	0	0	0	1	0	0	0	17083	14	1	5	1610	5	USP6	17	5044777	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	119283	5044777	76150433	975	63937											
KIAA0753	9851	broad.mit.edu	37	chr17	6531699	6531699	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctacactgacaggctgcTtgactctttgattccttcct	8	12	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:6531699T>G	uc002gde.3	-	3	815	c.456A>C	c.(454-456)CAA>CAC	p.Q152H	KIAA0753_uc010clo.2_5'UTR|KIAA0753_uc010vte.1_5'UTR	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	152						centrosome					0				COAD - Colon adenocarcinoma(228;0.157)		GACAGGCTGCTTGACTCTTTG	0.458													G	6531699	T	G	6531699	3	3	96	1	0	0	0	0	1	0	0	0	8191	1606	56	5	2515	5	KIAA0753	17	6531699	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1486922	6531699	74663511	976	63938											
TEKT1	83659	broad.mit.edu	37	chr17	6716238	6716238	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaccacatcacactgcTtgcgcagatcattggctgtc	8	14	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:6716238T>C	uc002gdt.2	-	6	874	c.764A>G	c.(763-765)AAG>AGG	p.K255R	TEKT1_uc010vth.1_Missense_Mutation_p.K109R	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	tektin 1	255					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|skin(1)	2		Myeloproliferative disorder(207;0.0255)				ATCACACTGCTTGCGCAGATC	0.542													C	6716238	T	C	6716238	3	2	96	1	0	0	0	0	1	0	0	0	15749	1609	56	3	504	3	TEKT1	17	6716238	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	184539	6716238	74478972	977	63939											
TNK1	8711	broad.mit.edu	37	chr17	7291747	7291747	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttccaggagtctggagtcAgttctgtccctcggtcctcg	11	12	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:7291747A>G	uc002ggi.3	+	11	1675	c.1515A>G	c.(1513-1515)TCA>TCG	p.S505S	TNK1_uc002ggj.3_Silent_p.S500S|TNK1_uc010cmf.2_RNA|TNK1_uc002ggk.3_Intron	NM_003985	NP_003976	Q13470	TNK1_HUMAN	tyrosine kinase, non-receptor, 1	505					protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(122;0.157)				GTCTGGAGTCAGTTCTGTCCC	0.448													G	7291747	A	G	7291747	2	3	96	1	0	0	0	0	0	0	0	1	16314	175	7	3		3	TNK1	17	7291747	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	575509	7291747	73903463	978	63940											
DNAH2	146754	broad.mit.edu	37	chr17	7696052	7696052	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagcagcttggtggccaAccagaatcccattctgctgg	13	11	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:7696052A>C	uc002giu.1	+	46	7237	c.7223A>C	c.(7222-7224)AAC>ACC	p.N2408T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2408	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGGTGGCCAACCAGAATCCC	0.622													C	7696052	A	C	7696052	3	2	96	1	0	0	0	0	1	0	0	0	4602	43	2	5	7405	5	DNAH2	17	7696052	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	404305	7696052	73499158	979	63941											
NTN1	9423	broad.mit.edu	37	chr17	8926112	8926112	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacactgtccctcggcaagaAgttcgaagtgacctacgtga	10	12	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:8926112A>C	uc002glw.3	+	2	529	c.422A>C	c.(421-423)AAG>ACG	p.K141T		NM_004822	NP_004813	O95631	NET1_HUMAN	netrin 1 precursor	141	Laminin N-terminal.				apoptosis|axon guidance		protein binding				0						CTCGGCAAGAAGTTCGAAGTG	0.612													C	8926112	A	C	8926112	3	2	96	1	0	0	0	0	1	0	0	0	10700	72	3	5	424	5	NTN1	17	8926112	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1230060	8926112	72269098	980	63942											
WDR16	146845	broad.mit.edu	37	chr17	9542013	9542013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttccagatcatcaccagCggaacagacagaaaggtgag	12	9	2	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:9542013C>T	uc002gly.2	+	12	1629	c.1560C>T	c.(1558-1560)AGC>AGT	p.S520S	WDR16_uc002glz.2_Silent_p.S452S|WDR16_uc010coc.2_Silent_p.S530S	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN	WD40-repeat protein upregulated in HCC isoform	520	WD 9.					cytoplasm|intracellular membrane-bounded organelle	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						TCATCACCAGCGGAACAGACA	0.398													T	9542013	C	T	9542013	2	4	96	1	0	0	0	0	0	0	0	1	17273	767	27	1		1	WDR16	17	9542013	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	615901	9542013	71653197	981	63943											
MYH8	4626	broad.mit.edu	37	chr17	10300237	10300237	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcgtcttctcaagggaAgcacatttggcgttcacagc	10	11	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:10300237A>C	uc002gmm.2	-	31	4340	c.4245T>G	c.(4243-4245)GCT>GCG	p.A1415A	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1415	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						TCTCAAGGGAAGCACATTTGG	0.507									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				C	10300237	A	C	10300237	2	2	96	1	0	0	0	0	0	0	0	1	10041	59	3	5		5	MYH8	17	10300237	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	758224	10300237	70894973	982	63944											
MYH1	4619	broad.mit.edu	37	chr17	10415458	10415458	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctagggtagcagagggctTtgagcagatctgcagagttc	14	9	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:10415458T>G	uc002gmo.2	-	13	1293	c.1199A>C	c.(1198-1200)AAA>ACA	p.K400T	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	400	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						GCAGAGGGCTTTGAGCAGATC	0.468													G	10415458	T	G	10415458	3	3	96	1	0	0	0	0	1	0	0	0	10029	1841	64	5	4732	5	MYH1	17	10415458	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	115221	10415458	70779752	983	63945											
MYH2	4620	broad.mit.edu	37	chr17	10428180	10428180	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtctccctccatcttcTtcttgagcctaatggcatca	7	13	5	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:10428180T>G	uc010coi.2	-	34	4993	c.4865A>C	c.(4864-4866)AAG>ACG	p.K1622T	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.K1622T|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1622	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						CTCCATCTTCTTCTTGAGCCT	0.507													G	10428180	T	G	10428180	3	3	96	1	0	0	0	0	1	0	0	0	10035	1609	56	5	988	5	MYH2	17	10428180	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	12722	10428180	70767030	984	63946											
MYH2	4620	broad.mit.edu	37	chr17	10428375	10428375	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttccctcttcatgttcaAgagatgccttaatgacagca	6	11	4	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:10428375A>C	uc010coi.2	-	34	4798	c.4670T>G	c.(4669-4671)CTT>CGT	p.L1557R	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.L1557R|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1557	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						TTCATGTTCAAGAGATGCCTT	0.388													C	10428375	A	C	10428375	3	2	96	1	0	0	0	0	1	0	0	0	10035	72	3	5	1183	5	MYH2	17	10428375	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	195	10428375	70766835	985	63947											
DNAH9	1770	broad.mit.edu	37	chr17	11572875	11572875	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatcctcactccggaagaAattgaagaccatgtggaaga	9	10	1	4	rs149721373		TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:11572875A>C	uc002gne.2	+	17	3185	c.3117A>C	c.(3115-3117)GAA>GAC	p.E1039D	DNAH9_uc010coo.2_Missense_Mutation_p.E333D	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1039	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCCGGAAGAAATTGAAGACC	0.498													C	11572875	A	C	11572875	3	2	96	1	0	0	0	0	1	0	0	0	4608	11	1	5	3183	5	DNAH9	17	11572875	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1144500	11572875	69622335	986	63948											
NCOR1	9611	broad.mit.edu	37	chr17	15965203	15965203	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagggcccccagcaggcAgtggcctgtaaataaaacca	11	11	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:15965203A>T	uc002gpo.2	-	37	5633	c.5393T>A	c.(5392-5394)CTG>CAG	p.L1798Q	NCOR1_uc002gpn.2_Missense_Mutation_p.L1814Q|NCOR1_uc002gpm.2_Missense_Mutation_p.L318Q|NCOR1_uc010vwb.1_Missense_Mutation_p.L382Q|NCOR1_uc010coy.2_Missense_Mutation_p.L706Q|NCOR1_uc010vwc.1_Missense_Mutation_p.L608Q	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1798	Interaction with ETO.|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CCCAGCAGGCAGTGGCCTGTA	0.532													T	15965203	A	T	15965203	3	4	96	1	0	0	0	0	1	0	0	0	10235	188	7	5	1969	5	NCOR1	17	15965203	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4392328	15965203	65230007	987	63949											
CCDC144A	9720	broad.mit.edu	37	chr17	16610808	16610808	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caagactcggagctgacatcAgaggaagagcaagaaagact	12	8	1	6			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:16610808A>T	uc002gqk.1	+	4	766	c.690A>T	c.(688-690)TCA>TCT	p.S230S	CCDC144A_uc002gql.1_5'UTR	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	230											0						AGCTGACATCAGAGGAAGAGC	0.328													T	16610808	A	T	16610808	2	4	96	1	0	0	0	0	0	0	0	1	2777	175	7	5		5	CCDC144A	17	16610808	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	645605	16610808	64584402	988	63950											
CCDC144A	9720	broad.mit.edu	37	chr17	16612142	16612142	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaccagaaatggctaaggaTtgcgatagagaggatatacc	12	6	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:16612142T>G	uc002gqk.1	+	5	847	c.771T>G	c.(769-771)GAT>GAG	p.D257E	CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	257											0						TGGCTAAGGATTGCGATAGAG	0.383													G	16612142	T	G	16612142	3	3	96	1	0	0	0	0	1	0	0	0	2777	1490	52	5	789	5	CCDC144A	17	16612142	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1334	16612142	64583068	989	63951											
MYO15A	51168	broad.mit.edu	37	chr17	18044990	18044990	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtctagtggccctcaAgcatgacctgccggctaatg	11	13	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:18044990A>G	uc010vxh.1	+	22	5893	c.5555A>G	c.(5554-5556)AAG>AGG	p.K1852R		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1852	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					GTGGCCCTCAAGCATGACCTG	0.567											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	18044990	A	G	18044990	3	3	96	1	0	0	0	0	1	0	0	0	10063	72	3	3	5637	3	MYO15A	17	18044990	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1432848	18044990	63150220	990	63952											
MYO15A	51168	broad.mit.edu	37	chr17	18054711	18054711	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcgccccttgcccacagctTcaccctccccagagctggtc	8	21	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:18054711T>G	uc010vxh.1	+	39	7995	c.7657T>G	c.(7657-7659)TCA>GCA	p.S2553A	MYO15A_uc010vxi.1_5'Flank|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	2553	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					GCCCACAGCTTCACCCTCCCC	0.622													G	18054711	T	G	18054711	3	3	96	1	0	0	0	0	1	0	0	0	10063	1783	62	5	7807	5	MYO15A	17	18054711	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	9721	18054711	63140499	991	63953											
MFAP4	4239	broad.mit.edu	37	chr17	19288525	19288525	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggcataggccgtgttgttcTcaaagtcctccaagtccact	9	12	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:19288525T>A	uc002gvt.2	-	5	432	c.407A>T	c.(406-408)GAG>GTG	p.E136V	MFAP4_uc002gvr.2_RNA|MFAP4_uc002gvs.2_Missense_Mutation_p.E160V	NM_002404	NP_002395	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4 precursor	136	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding				0	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CGTGTTGTTCTCAAAGTCCTC	0.572													A	19288525	T	A	19288525	3	1	96	1	0	0	0	0	1	0	0	0	9517	1551	54	5	368	5	MFAP4	17	19288525	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1233814	19288525	61906685	992	63954											
ATAD5	79915	broad.mit.edu	37	chr17	29185224	29185224	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagaagtaagaaatcttTtgcttgaggaaattaggtgg	12	3	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:29185224T>A	uc002hfs.1	+	9	3185	c.2839T>A	c.(2839-2841)TTG>ATG	p.L947M	ATAD5_uc002hft.1_Missense_Mutation_p.L844M	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	947					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAGAAATCTTTTGCTTGAGGA	0.318													A	29185224	T	A	29185224	3	1	96	1	0	0	0	0	1	0	0	0	1076	1838	64	5	2873	5	ATAD5	17	29185224	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	9896699	29185224	52009986	993	63955											
CCL1	6346	broad.mit.edu	37	chr17	32690125	32690125	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcttgctgtccacatctTccggccacatcccagctagc	7	17	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:32690125T>G	uc002hid.1	-	1	128	c.56A>C	c.(55-57)GAA>GCA	p.E19A		NM_002981	NP_002972	P22362	CCL1_HUMAN	small inducible cytokine A1 precursor	19					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity				0		Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		GTCCACATCTTCCGGCCACAT	0.572													G	32690125	T	G	32690125	3	3	96	1	0	0	0	0	1	0	0	0	2882	1783	62	5	246	5	CCL1	17	32690125	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3504901	32690125	48505085	994	63956											
LIG3	3980	broad.mit.edu	37	chr17	33310344	33310344	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcacagctggctgcaaaaAatgcaaggaaaagattgtga	12	6	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:33310344A>C	uc002hik.1	+	2	428	c.320A>C	c.(319-321)AAA>ACA	p.K107T	LIG3_uc002hii.2_Missense_Mutation_p.K107T|LIG3_uc002hij.2_Missense_Mutation_p.K107T|LIG3_uc010cth.1_Missense_Mutation_p.K116T	NM_013975	NP_039269	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent isoform alpha	107	PARP-type.				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9		Ovarian(249;0.17)			Bleomycin(DB00290)	GGCTGCAAAAAATGCAAGGAA	0.527								Other_BER_factors					C	33310344	A	C	33310344	3	2	96	1	0	0	0	0	1	0	0	0	8782	14	1	5	322	5	LIG3	17	33310344	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	620219	33310344	47884866	995	63957											
LYZL6	57151	broad.mit.edu	37	chr17	34264911	34264911	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttgctttccacaaaagccAggcacagcccttagagtagg	9	12	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:34264911A>G	uc002hkj.1	-	2	299	c.149T>C	c.(148-150)CTG>CCG	p.L50P	LYZL6_uc002hkk.1_Missense_Mutation_p.L50P	NM_020426	NP_065159	O75951	LYZL6_HUMAN	lysozyme-like 6 precursor	50					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CACAAAAGCCAGGCACAGCCC	0.473													G	34264911	A	G	34264911	3	3	96	1	0	0	0	0	1	0	0	0	9134	188	7	3	309	3	LYZL6	17	34264911	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	954567	34264911	46930299	996	63958											
ACACA	31	broad.mit.edu	37	chr17	35536243	35536243	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgtggaccagctgaccTtgatcatccagtaccagttc	8	12	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:35536243T>A	uc002hnm.2	-	41	5117	c.4926A>T	c.(4924-4926)CAA>CAT	p.Q1642H	ACACA_uc002hnk.2_Missense_Mutation_p.Q1564H|ACACA_uc002hnl.2_Missense_Mutation_p.Q1584H|ACACA_uc002hnn.2_Missense_Mutation_p.Q1642H|ACACA_uc002hno.2_Missense_Mutation_p.Q1679H|ACACA_uc010cuy.2_Intron	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1642					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCAGCTGACCTTGATCATCCA	0.488													A	35536243	T	A	35536243	3	1	96	1	0	0	0	0	1	0	0	0	106	1606	56	5	2178	5	ACACA	17	35536243	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1271332	35536243	45658967	997	63959											
GPR179	440435	broad.mit.edu	37	chr17	36486628	36486628	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcccccagacagggccaAgatgggggtagaaacctggt	15	11	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:36486628A>C	uc002hpz.2	-	11	2845	c.2824T>G	c.(2824-2826)TTG>GTG	p.L942V		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	942	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GACAGGGCCAAGATGGGGGTA	0.527													C	36486628	A	C	36486628	3	2	96	1	0	0	0	0	1	0	0	0	6674	69	3	5	4283	5	GPR179	17	36486628	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	950385	36486628	44708582	998	63960											
KRT25	147183	broad.mit.edu	37	chr17	38911503	38911503	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacaggacctcctggatgcActggaaagtcgaagagacat	13	9	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:38911503A>G	uc002hve.2	-	1	82	c.21T>C	c.(19-21)AGT>AGC	p.S7S		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	7	Head.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)				TCCTGGATGCACTGGAAAGTC	0.498													G	38911503	A	G	38911503	2	3	96	1	0	0	0	0	0	0	0	1	8462	156	6	3		3	KRT25	17	38911503	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2424875	38911503	42283707	999	63961											
KRT38	8687	broad.mit.edu	37	chr17	39593675	39593675	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaggaattcagaatcggcTtccggtggtgctggctccac	12	12	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:39593675T>G	uc002hwq.1	-	7	1783	c.1360A>C	c.(1360-1362)AGC>CGC	p.S454R		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	454	Tail.					intermediate filament	structural molecule activity			skin(2)	2		Breast(137;0.000496)				CAGAATCGGCTTCCGGTGGTG	0.587													G	39593675	T	G	39593675	3	3	96	1	0	0	0	0	1	0	0	0	8475	1609	56	5	14	5	KRT38	17	39593675	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	682172	39593675	41601535	1000	63962											
BECN1	8678	broad.mit.edu	37	chr17	40963766	40963766	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccattgcatggtcaaacTtgttgtcccagaaaaaccgc	7	13	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:40963766T>C	uc002ibo.3	-	11	1226	c.1091A>G	c.(1090-1092)AAG>AGG	p.K364R	BECN1_uc010whb.1_Missense_Mutation_p.K277R|BECN1_uc010whc.1_Intron|BECN1_uc002ibn.2_Missense_Mutation_p.K364R	NM_003766	NP_003757	Q14457	BECN1_HUMAN	beclin 1	364					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			ovary(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		ATGGTCAAACTTGTTGTCCCA	0.498													C	40963766	T	C	40963766	3	2	96	1	0	0	0	0	1	0	0	0	1396	1609	56	3	269	3	BECN1	17	40963766	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1370091	40963766	40231444	1001	63963											
BRCA1	672	broad.mit.edu	37	chr17	41228549	41228549	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttactggtagaactatctgcAgacacctcaaacttgtcagc	7	11	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:41228549A>G	uc002icq.2	-	13	4672	c.4440T>C	c.(4438-4440)TCT>TCC	p.S1480S	BRCA1_uc010whp.1_Silent_p.S329S|BRCA1_uc010whl.1_Silent_p.S376S|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Silent_p.S1409S|BRCA1_uc002icu.2_Silent_p.S376S|BRCA1_uc010cyx.2_Silent_p.S1433S|BRCA1_uc002ict.2_Silent_p.S1501S|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Silent_p.S209S|BRCA1_uc002idc.1_Silent_p.S376S|BRCA1_uc010whr.1_Silent_p.S330S	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	1480					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AACTATCTGCAGACACCTCAA	0.358			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			G	41228549	A	G	41228549	2	3	96	1	0	0	0	0	0	0	0	1	1498	175	7	3		3	BRCA1	17	41228549	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	264783	41228549	39966661	1002	63964											
BRCA1	672	broad.mit.edu	37	chr17	41243775	41243775	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaatgataataaattcTcctctgtgttcttagacaga	5	8	5	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:41243775T>C	uc002icq.2	-	10	4005	c.3773A>G	c.(3772-3774)GAG>GGG	p.E1258G	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.E1187G|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.E1211G|BRCA1_uc002ict.2_Missense_Mutation_p.E1258G|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.E1258G|BRCA1_uc002ide.1_Missense_Mutation_p.E1089G|BRCA1_uc010cyy.1_Missense_Mutation_p.E1258G|BRCA1_uc010whs.1_Missense_Mutation_p.E1258G|BRCA1_uc010cyz.2_Missense_Mutation_p.E1211G|BRCA1_uc010cza.2_Missense_Mutation_p.E1232G|BRCA1_uc010wht.1_Missense_Mutation_p.E962G	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	1258					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TAATAAATTCTCCTCTGTGTT	0.383			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			C	41243775	T	C	41243775	3	2	96	1	0	0	0	0	1	0	0	0	1498	1551	54	3	1944	3	BRCA1	17	41243775	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	15226	41243775	39951435	1003	63965											
GPATCH8	23131	broad.mit.edu	37	chr17	42477192	42477192	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatctccgctgggagtcatcTtgagctctccgccttcttct	9	14	6	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:42477192T>C	uc002igw.1	-	8	2317	c.2253A>G	c.(2251-2253)CAA>CAG	p.Q751Q	GPATCH8_uc002igv.1_Silent_p.Q673Q|GPATCH8_uc010wiz.1_Silent_p.Q673Q	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	751						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGGAGTCATCTTGAGCTCTCC	0.582													C	42477192	T	C	42477192	2	2	96	1	0	0	0	0	0	0	0	1	6594	1606	56	3		3	GPATCH8	17	42477192	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1233417	42477192	38718018	1004	63966											
FZD2	2535	broad.mit.edu	37	chr17	42636483	42636483	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacagtgcccgccaccatcgTcatcgcttgctacttctacg	7	17	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:42636483T>A	uc002igx.1	+	1	1559	c.1427T>A	c.(1426-1428)GTC>GAC	p.V476D		NM_001466	NP_001457	Q14332	FZD2_HUMAN	frizzled 2 precursor	476	Helical; Name=6; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCCACCATCGTCATCGCTTGC	0.637													A	42636483	T	A	42636483	3	1	96	1	0	0	0	0	1	0	0	0	6130	1667	58	5	1429	5	FZD2	17	42636483	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	159291	42636483	38558727	1005	63967											
MAPT	4137	broad.mit.edu	37	chr17	44067437	44067437	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagcaaaggagatgaaacTcaaggtaaggaaaccacctt	11	7	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:44067437T>G	uc002ijr.3	+	8	1696	c.1376T>G	c.(1375-1377)CTC>CGC	p.L459R	MAPT_uc010dau.2_Missense_Mutation_p.L459R|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	459					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)				GAGATGAAACTCAAGGTAAGG	0.433													G	44067437	T	G	44067437	3	3	96	1	0	0	0	0	1	0	0	0	9297	1551	54	5	1402	5	MAPT	17	44067437	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1430954	44067437	37127773	1006	63968											
WNT9B	7484	broad.mit.edu	37	chr17	44952679	44952679	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctggggtccaagagaggaAacaaggacctgcgggcacgg	16	10	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:44952679A>T	uc002ikw.1	+	3	584	c.547A>T	c.(547-549)AAC>TAC	p.N183Y	WNT9B_uc002ikx.1_Missense_Mutation_p.N183Y	NM_003396	NP_003387	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family,	183					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CAAGAGAGGAAACAAGGACCT	0.632													T	44952679	A	T	44952679	3	4	96	1	0	0	0	0	1	0	0	0	17396	14	1	5	557	5	WNT9B	17	44952679	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	885242	44952679	36242531	1007	63969											
KIF2B	84643	broad.mit.edu	37	chr17	51901856	51901856	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtattctggctttgggtcagAacaagcctcacaccccattc	8	13	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:51901856A>C	uc002iua.2	+	1	1618	c.1462A>C	c.(1462-1464)AAC>CAC	p.N488H	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	488					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						TTTGGGTCAGAACAAGCCTCA	0.512													C	51901856	A	C	51901856	3	2	96	1	0	0	0	0	1	0	0	0	8298	246	9	5	1464	5	KIF2B	17	51901856	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	6949177	51901856	29293354	1008	63970											
EPX	8288	broad.mit.edu	37	chr17	56280628	56280628	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggggctcgagtggggcctcTtctggcttgtctgttcgaga	17	9	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:56280628T>G	uc002ivq.2	+	11	1981	c.1895T>G	c.(1894-1896)CTT>CGT	p.L632R		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	632					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						GTGGGGCCTCTTCTGGCTTGT	0.522													G	56280628	T	G	56280628	3	3	96	1	0	0	0	0	1	0	0	0	5200	1609	56	5	1937	5	EPX	17	56280628	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4378772	56280628	24914582	1009	63971											
LPO	4025	broad.mit.edu	37	chr17	56345352	56345352	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggcctcagtgaagaaTtaggggcccgcgctgcacag	14	13	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:56345352T>G	uc002ivt.2	+	13	2452	c.2136T>G	c.(2134-2136)AAT>AAG	p.N712K	LPO_uc010wns.1_Missense_Mutation_p.N653K|LPO_uc010dcp.2_Missense_Mutation_p.N629K|LPO_uc010dcq.2_Missense_Mutation_p.N383K|LPO_uc010dcr.2_Missense_Mutation_p.N275K	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	712					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2						CAGTGAAGAATTAGGGGCCCG	0.567													G	56345352	T	G	56345352	3	3	96	1	0	0	0	0	1	0	0	0	8922	1490	52	5	2182	5	LPO	17	56345352	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	64724	56345352	24849858	1010	63972											
PRR11	55771	broad.mit.edu	37	chr17	57274918	57274918	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttatcagcactcctggaaaaAgtcagatggatctgcggaaa	10	8	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:57274918A>T	uc002ixf.1	+	8	950	c.871A>T	c.(871-873)AGT>TGT	p.S291C	PRR11_uc002ixg.1_RNA	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	proline rich 11	291										ovary(2)	2	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCCTGGAAAAAGTCAGATGGA	0.244													T	57274918	A	T	57274918	3	4	96	1	0	0	0	0	1	0	0	0	12583	72	3	5	897	5	PRR11	17	57274918	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	929566	57274918	23920292	1011	63973											
C17orf71	55181	broad.mit.edu	37	chr17	57288500	57288500	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagtcattgtactgtgaaggAcccggaatctttgctggtgc	13	8	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:57288500A>T	uc002ixi.2	+	1	1130	c.1088A>T	c.(1087-1089)GAC>GTC	p.D363V		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	363					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ACTGTGAAGGACCCGGAATCT	0.537													T	57288500	A	T	57288500	3	4	96	1	0	0	0	0	1	0	0	0	1878	275	10	5	1090	5	C17orf71	17	57288500	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	13582	57288500	23906710	1012	63974											
TANC2	26115	broad.mit.edu	37	chr17	61345122	61345122	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcagccaccagctctgcCcacttggaagaccttgctta	8	14	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:61345122C>T	uc002jal.3	+	7	848	c.825C>T	c.(823-825)GCC>GCT	p.A275A	TANC2_uc010wpe.1_Silent_p.A185A	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	275							binding			ovary(2)	2						CCAGCTCTGCCCACTTGGAAG	0.453													T	61345122	C	T	61345122	2	4	96	1	0	0	0	0	0	0	0	1	15542	610	22	4		4	TANC2	17	61345122	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	4056622	61345122	19850088	1013	63975											
ACE	1636	broad.mit.edu	37	chr17	61571295	61571295	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcagagcatgacatcaActttctgatgaagatggccc	9	11	2	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:61571295A>C	uc002jau.1	+	21	3171	c.3149A>C	c.(3148-3150)AAC>ACC	p.N1050T	ACE_uc002jav.1_Missense_Mutation_p.N476T|ACE_uc010ddv.1_Missense_Mutation_p.N277T|ACE_uc010wpj.1_Missense_Mutation_p.N476T|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.N296T	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	1050	Extracellular (Potential).|Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CATGACATCAACTTTCTGATG	0.572													C	61571295	A	C	61571295	3	2	96	1	0	0	0	0	1	0	0	0	136	43	2	5	3434	5	ACE	17	61571295	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	226173	61571295	19623915	1014	63976											
KCNH6	81033	broad.mit.edu	37	chr17	61607903	61607903	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcactgagaaggtcacccaGgtgcgggcctgcagagcagg	16	11	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:61607903G>A	uc002jay.2	+	4	755	c.675G>A	c.(673-675)CAG>CAA	p.Q225Q	KCNH6_uc002jax.1_Silent_p.Q225Q|KCNH6_uc010wpl.1_Silent_p.Q102Q|KCNH6_uc010wpm.1_Silent_p.Q225Q|KCNH6_uc002jaz.1_Silent_p.Q225Q	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	225	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	AGGTCACCCAGGTGCGGGCCT	0.642													A	61607903	G	A	61607903	2	1	96	1	0	0	0	0	0	0	0	1	8036	1014	35	4		4	KCNH6	17	61607903	Silent	SNP	G	TCGA-BR-8589-01A-11D-2394-08	36608	61607903	19587307	1015	63977											
KCNH6	81033	broad.mit.edu	37	chr17	61613064	61613064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctattgaagacagcgcGgctgctgcggctggtgcgcg	18	10	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:61613064G>A	uc002jay.2	+	6	1216	c.1136G>A	c.(1135-1137)CGG>CAG	p.R379Q	KCNH6_uc002jax.1_Missense_Mutation_p.R379Q|KCNH6_uc010wpl.1_Missense_Mutation_p.R256Q|KCNH6_uc010wpm.1_Missense_Mutation_p.R379Q|KCNH6_uc002jaz.1_Missense_Mutation_p.R379Q	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	379	Helical; Voltage-sensor; Name=Segment S4; (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	AAGACAGCGCGGCTGCTGCGG	0.617													A	61613064	G	A	61613064	3	1	96	1	0	0	0	0	1	0	0	0	8036	1116	39	1	1158	1	KCNH6	17	61613064	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	5161	61613064	19582146	1016	63978											
FTSJ3	117246	broad.mit.edu	37	chr17	61897227	61897227	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttggtccttcttcatccTtgagtccaccaccttgaaat	5	13	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:61897227T>G	uc002jbz.2	-	20	2557	c.2479A>C	c.(2479-2481)AGG>CGG	p.R827R	FTSJ3_uc002jca.2_Silent_p.R827R	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	827					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						TTCTTCATCCTTGAGTCCACC	0.527													G	61897227	T	G	61897227	2	3	96	1	0	0	0	0	0	0	0	1	6089	1608	56	5		5	FTSJ3	17	61897227	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	284163	61897227	19297983	1017	63979											
LRRC37A3	374819	broad.mit.edu	37	chr17	62893362	62893362	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacacgctagtgccgggcacTgagcggaagtcattctggca	13	12	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:62893362T>C	uc002jey.2	-	3	545	c.14A>G	c.(13-15)CAG>CGG	p.Q5R	LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	5						integral to membrane					0						TGCCGGGCACTGAGCGGAAGT	0.562													C	62893362	T	C	62893362	3	2	96	1	0	0	0	0	1	0	0	0	8993	1580	55	3	4938	3	LRRC37A3	17	62893362	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	996135	62893362	18301848	1018	63980											
CCDC46	201134	broad.mit.edu	37	chr17	63957711	63957711	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacgagttagctgctcctctTtttccctagaaaggttcaga	8	11	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:63957711T>A	uc002jfl.2	-	18	1961	c.1742A>T	c.(1741-1743)AAA>ATA	p.K581I	CCDC46_uc010deo.2_Missense_Mutation_p.K323I|CCDC46_uc002jfm.2_Missense_Mutation_p.K581I|CCDC46_uc010dep.2_Missense_Mutation_p.K539I	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	coiled-coil domain containing 46 isoform a	581	Potential.					centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)			CTGCTCCTCTTTTTCCCTAGA	0.443													A	63957711	T	A	63957711	3	1	96	1	0	0	0	0	1	0	0	0	2817	1841	64	5	1331	5	CCDC46	17	63957711	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1064349	63957711	17237499	1019	63981											
COG1	9382	broad.mit.edu	37	chr17	71197502	71197502	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcacaagccatcagcccTtgtgtacagaacttctgttc	7	12	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:71197502T>G	uc002jjg.2	+	7	1572	c.1536T>G	c.(1534-1536)CCT>CCG	p.P512P	COG1_uc002jjh.2_Silent_p.P512P|COG1_uc002jjf.1_Silent_p.P512P	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	512					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)			CCATCAGCCCTTGTGTACAGA	0.547													G	71197502	T	G	71197502	2	3	96	1	0	0	0	0	0	0	0	1	3657	1596	56	5		5	COG1	17	71197502	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	7239791	71197502	9997708	1020	63982											
SDK2	54549	broad.mit.edu	37	chr17	71398177	71398177	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaagtactcggtgaacTtcttcaggccagacacgaag	12	9	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:71398177T>G	uc010dfm.2	-	19	2588	c.2588A>C	c.(2587-2589)AAG>ACG	p.K863T	SDK2_uc002jjt.3_Missense_Mutation_p.K22T|SDK2_uc010dfn.2_Missense_Mutation_p.K542T	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	863	Fibronectin type-III 3.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2						CTCGGTGAACTTCTTCAGGCC	0.617													G	71398177	T	G	71398177	3	3	96	1	0	0	0	0	1	0	0	0	13969	1609	56	5	4038	5	SDK2	17	71398177	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	200675	71398177	9797033	1021	63983											
CD300E	342510	broad.mit.edu	37	chr17	72613331	72613331	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacccacactgtctgaattTtgcaccagtaagatccagca	8	12	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:72613331T>G	uc002jlb.1	-	2	355	c.314A>C	c.(313-315)AAA>ACA	p.K105T		NM_181449	NP_852114	Q496F6	CLM2_HUMAN	CD300e molecule precursor	105	Ig-like V-type.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						TGTCTGAATTTTGCACCAGTA	0.547													G	72613331	T	G	72613331	3	3	96	1	0	0	0	0	1	0	0	0	2998	1841	64	5	315	5	CD300E	17	72613331	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1215154	72613331	8581879	1022	63984											
CYTH1	9267	broad.mit.edu	37	chr17	76698666	76698666	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcccatggctacctgtTtgttcctctgcatgtttttc	7	13	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:76698666T>G	uc002jvw.2	-	4	262	c.191A>C	c.(190-192)AAA>ACA	p.K64T	CYTH1_uc010wtw.1_Missense_Mutation_p.K5T|CYTH1_uc010wtx.1_Missense_Mutation_p.K5T	NM_017456	NP_059430	Q15438	CYH1_HUMAN	cytohesin 1 isoform 2	64	Potential.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						GGCTACCTGTTTGTTCCTCTG	0.388													G	76698666	T	G	76698666	3	3	96	1	0	0	0	0	1	0	0	0	4203	1841	64	5	1045	5	CYTH1	17	76698666	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4085335	76698666	4496544	1023	63985											
BAIAP2	10458	broad.mit.edu	37	chr17	79073837	79073837	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctgcttcctggtggagaAgcagtgcgccgtggccaaga	14	11	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:79073837A>G	uc002jzg.2	+	7	707	c.599A>G	c.(598-600)AAG>AGG	p.K200R	BAIAP2_uc002jyz.3_Missense_Mutation_p.K200R|BAIAP2_uc002jza.2_Missense_Mutation_p.K200R|BAIAP2_uc002jzc.2_Missense_Mutation_p.K200R|BAIAP2_uc002jzb.2_5'UTR|BAIAP2_uc002jzd.2_Missense_Mutation_p.K200R|BAIAP2_uc002jzf.2_Missense_Mutation_p.K200R|BAIAP2_uc002jze.2_Missense_Mutation_p.K233R|BAIAP2_uc010wuh.1_Missense_Mutation_p.K122R|BAIAP2_uc002jzh.2_Missense_Mutation_p.K201R|BAIAP2_uc010wui.1_Missense_Mutation_p.K63R	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2 isoform 2	200	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding				0	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CTGGTGGAGAAGCAGTGCGCC	0.647													G	79073837	A	G	79073837	3	3	96	1	0	0	0	0	1	0	0	0	1301	72	3	3	625	3	BAIAP2	17	79073837	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2375171	79073837	2121373	1024	63986											
ZNF750	79755	broad.mit.edu	37	chr17	80788538	80788538	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtccttcaccgagagattgAgtggaaggtcctgcagctct	13	10	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr17:80788538A>C	uc002kga.2	-	3	1963	c.1652T>G	c.(1651-1653)CTC>CGC	p.L551R	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	551						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CGAGAGATTGAGTGGAAGGTC	0.602													C	80788538	A	C	80788538	3	2	96	1	0	0	0	0	1	0	0	0	18129	304	11	5	523	5	ZNF750	17	80788538	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1714701	80788538	406672	1025	63987											
NDC80	10403	broad.mit.edu	37	chr18	2577822	2577822	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcaaggacccgagaccacTtaatgacaaagcattcattc	6	11	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr18:2577822T>G	uc002kli.2	+	4	439	c.257T>G	c.(256-258)CTT>CGT	p.L86R		NM_006101	NP_006092	O14777	NDC80_HUMAN	kinetochore associated 2	86	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			ovary(1)	1						CCGAGACCACTTAATGACAAA	0.363													G	2577822	T	G	2577822	3	3	96	1	0	0	0	0	1	0	0	0	10242	1609	56	5	267	5	NDC80	18	2577822	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08		2577822	75499426	1026	63988											
LAMA1	284217	broad.mit.edu	37	chr18	6978368	6978368	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttggttttggctcccttgTctcttatacctaaaataaat	5	9	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr18:6978368T>C	uc002knm.2	-	43	6111	c.6017A>G	c.(6016-6018)GAC>GGC	p.D2006G	LAMA1_uc010wzj.1_Missense_Mutation_p.D1482G	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2006	Domain II and I.				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)	GGCTCCCTTGTCTCTTATACC	0.473													C	6978368	T	C	6978368	3	2	96	1	0	0	0	0	1	0	0	0	8605	1667	58	3	3294	3	LAMA1	18	6978368	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4400546	6978368	71098880	1027	63989											
LRRC30	339291	broad.mit.edu	37	chr18	7231432	7231432	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgacccggatcgtggtccTgaacttgtgcgggaaccgcc	13	13	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr18:7231432T>G	uc010wzk.1	+	1	296	c.296T>G	c.(295-297)CTG>CGG	p.L99R		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	99	LRR 2.									ovary(1)|liver(1)	2						ATCGTGGTCCTGAACTTGTGC	0.572													G	7231432	T	G	7231432	3	3	96	1	0	0	0	0	1	0	0	0	8985	1580	55	5	298	5	LRRC30	18	7231432	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	253064	7231432	70845816	1028	63990											
KIAA0802	23255	broad.mit.edu	37	chr18	8825346	8825346	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcctggagatgtccaagaacTtgagtgatgacatgaaggag	14	6	0	6			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr18:8825346T>A	uc002knr.2	+	15	3980	c.3838T>A	c.(3838-3840)TTG>ATG	p.L1280M	KIAA0802_uc002knq.2_Missense_Mutation_p.L1239M|KIAA0802_uc002kns.2_Missense_Mutation_p.L620M	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1590											0						GTCCAAGAACTTGAGTGATGA	0.607													A	8825346	T	A	8825346	3	1	96	1	0	0	0	0	1	0	0	0	8194	1606	56	5	3888	5	KIAA0802	18	8825346	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1593914	8825346	69251902	1029	63991											
RALBP1	10928	broad.mit.edu	37	chr18	9535697	9535697	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caatcatttgaatcaagcaaTtcatgaggagcgcgaggcca	10	9	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr18:9535697T>G	uc002kob.2	+	10	1953	c.1730T>G	c.(1729-1731)ATT>AGT	p.I577S	RALBP1_uc002koc.2_Missense_Mutation_p.I577S	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	577					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			central_nervous_system(1)	1						AATCAAGCAATTCATGAGGAG	0.557													G	9535697	T	G	9535697	3	3	96	1	0	0	0	0	1	0	0	0	13012	1493	52	5	1764	5	RALBP1	18	9535697	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	710351	9535697	68541551	1030	63992											
PTPN2	5771	broad.mit.edu	37	chr18	12817314	12817314	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgattcagggactccaaaAtctggccaggtagtataatg	12	7	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr18:12817314A>C	uc002krp.2	-	6	740	c.546T>G	c.(544-546)GAT>GAG	p.D182E	PTPN2_uc002krl.2_Missense_Mutation_p.D182E|PTPN2_uc002krn.2_Missense_Mutation_p.D205E|PTPN2_uc002kro.2_Missense_Mutation_p.D182E|PTPN2_uc002krm.2_Missense_Mutation_p.D182E	NM_002828	NP_002819	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type	182	Tyrosine-protein phosphatase.	Substrate (By similarity).			interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			skin(2)	2		Lung NSC(161;8.94e-06)				GGACTCCAAAATCTGGCCAGG	0.398													C	12817314	A	C	12817314	3	2	96	1	0	0	0	0	1	0	0	0	12785	98	4	5	743	5	PTPN2	18	12817314	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3281617	12817314	65259934	1031	63993											
RBBP8	5932	broad.mit.edu	37	chr18	20573460	20573460	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggggagccctgttcacaggAatgcatcatccttcagccct	10	13	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr18:20573460A>T	uc002ktw.2	+	11	2001	c.1670A>T	c.(1669-1671)GAA>GTA	p.E557V	RBBP8_uc002kty.2_Missense_Mutation_p.E557V|RBBP8_uc002ktz.2_Missense_Mutation_p.E557V|RBBP8_uc002kua.2_Missense_Mutation_p.E557V|RBBP8_uc010xap.1_5'Flank|RBBP8_uc002ktx.1_Missense_Mutation_p.E557V	NM_002894	NP_002885	Q99708	COM1_HUMAN	retinoblastoma binding protein 8 isoform a	557					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)|lung(1)|skin(1)	3	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TGTTCACAGGAATGCATCATC	0.448								Direct_reversal_of_damage|Homologous_recombination					T	20573460	A	T	20573460	3	4	96	1	0	0	0	0	1	0	0	0	13105	246	9	5	1708	5	RBBP8	18	20573460	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	7756146	20573460	57503788	1032	63994											
MAPRE2	10982	broad.mit.edu	37	chr18	32706943	32706943	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtccagcagctaaaccAggatccacaccttctcgacc	6	16	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr18:32706943A>T	uc002kyg.2	+	5	822	c.642A>T	c.(640-642)CCA>CCT	p.P214P	MAPRE2_uc010xcb.1_Silent_p.P171P|MAPRE2_uc010xcc.1_Silent_p.P202P|MAPRE2_uc002kyf.2_Silent_p.P214P|MAPRE2_uc002kyh.2_Silent_p.P161P|MAPRE2_uc010xcd.1_Silent_p.P171P	NM_014268	NP_055083	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family,	214	DCTN1-binding.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			ovary(1)	1						CAGCTAAACCAGGATCCACAC	0.403													T	32706943	A	T	32706943	2	4	96	1	0	0	0	0	0	0	0	1	9295	175	7	5		5	MAPRE2	18	32706943	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	12133483	32706943	45370305	1033	63995											
KIAA1328	57536	broad.mit.edu	37	chr18	34740221	34740221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatcatctattaaaaagCaccaagaccccccaaacagt	3	14	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr18:34740221C>T	uc002kzz.2	+	8	1313	c.1291C>T	c.(1291-1293)CAC>TAC	p.H431Y	KIAA1328_uc002lab.2_Missense_Mutation_p.H183Y|KIAA1328_uc002lac.1_Missense_Mutation_p.H290Y|KIAA1328_uc010dnc.1_RNA	NM_020776	NP_065827	Q86T90	K1328_HUMAN	hypothetical protein LOC57536	431										central_nervous_system(1)	1				COAD - Colon adenocarcinoma(74;0.195)		TATTAAAAAGCACCAAGACCC	0.428													T	34740221	C	T	34740221	3	4	96	1	0	0	0	0	1	0	0	0	8225	710	25	2	1321	2	KIAA1328	18	34740221	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	2033278	34740221	43337027	1034	63996											
WDR7	23335	broad.mit.edu	37	chr18	54363663	54363663	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttcatggtggtgagattacTcaacttctagttccacctga	9	9	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr18:54363663T>A	uc002lgk.1	+	12	1759	c.1548T>A	c.(1546-1548)ACT>ACA	p.T516T	WDR7_uc010dpk.1_Intron|WDR7_uc002lgl.1_Silent_p.T516T	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	516										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		GTGAGATTACTCAACTTCTAG	0.333													A	54363663	T	A	54363663	2	1	96	1	0	0	0	0	0	0	0	1	17317	1538	54	5		5	WDR7	18	54363663	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	19623442	54363663	23713585	1035	63997											
SEC11C	90701	broad.mit.edu	37	chr18	56825903	56825903	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgcatatgtgttactaAaacgtgaatcctaaaatgag	10	5	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr18:56825903A>C	uc002lht.2	+	6	621	c.565A>C	c.(565-567)AAA>CAA	p.K189Q		NM_033280	NP_150596	Q9BY50	SC11C_HUMAN	SEC11-like 3	189	Lumenal (Potential).				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity				0		Colorectal(73;0.175)				TGTGTTACTAAAACGTGAATC	0.343													C	56825903	A	C	56825903	3	2	96	1	0	0	0	0	1	0	0	0	13979	15	1	5	587	5	SEC11C	18	56825903	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2462240	56825903	21251345	1036	63998											
SERPINB4	6318	broad.mit.edu	37	chr18	61326731	61326731	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtcagaagcttttgaaActggtgatgaacatttcctg	9	7	2	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr18:61326731A>T	uc002ljg.2	-	3	279	c.253T>A	c.(253-255)TTT>ATT	p.F85I	SERPINB3_uc002lji.2_Missense_Mutation_p.F85I|SERPINB3_uc010dqa.2_Missense_Mutation_p.F85I|SERPINB3_uc010dqb.2_Missense_Mutation_p.F85I			P48594	SPB4_HUMAN	SubName: Full=Squamous cell carcinoma antigen 2;	85					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3						AGCTTTTGAAACTGGTGATGA	0.368													T	61326731	A	T	61326731	3	4	96	1	0	0	0	0	1	0	0	0	14103	43	2	5		5	SERPINB4	18	61326731	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4500828	61326731	16750517	1037	63999											
SERPINB11	89778	broad.mit.edu	37	chr18	61377558	61377558	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctctaagcatggtcctccTtggtgccaggggagagactg	14	10	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr18:61377558T>G	uc002ljk.3	+	2	193	c.131T>G	c.(130-132)CTT>CGT	p.L44R	SERPINB11_uc010xes.1_5'UTR|SERPINB11_uc010dqd.2_5'UTR|SERPINB11_uc002ljj.3_5'UTR|SERPINB11_uc010dqe.2_5'UTR|SERPINB11_uc010dqf.2_Missense_Mutation_p.L44R	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B, member 11	44					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)	1		Esophageal squamous(42;0.129)				ATGGTCCTCCTTGGTGCCAGG	0.458													G	61377558	T	G	61377558	3	3	96	1	0	0	0	0	1	0	0	0	14098	1609	56	5	133	5	SERPINB11	18	61377558	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	50827	61377558	16699690	1038	64000											
SERPINB2	5055	broad.mit.edu	37	chr18	61564434	61564434	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caataagctgtttggtgagaAgtctgcgagcttccgggaag	14	7	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr18:61564434A>C	uc010xeu.1	+	5	731	c.398A>C	c.(397-399)AAG>ACG	p.K133T	SERPINB2_uc002ljo.2_Missense_Mutation_p.K133T|SERPINB2_uc010dqh.2_Missense_Mutation_p.K63T|SERPINB2_uc002ljp.1_5'UTR|SERPINB2_uc002ljq.1_5'UTR	NM_001143818	NP_001137290	P05120	PAI2_HUMAN	serine (or cysteine) proteinase inhibitor, clade	133					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			lung(1)|skin(1)	2		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TTTGGTGAGAAGTCTGCGAGC	0.418													C	61564434	A	C	61564434	3	2	96	1	0	0	0	0	1	0	0	0	14101	72	3	5	408	5	SERPINB2	18	61564434	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	186876	61564434	16512814	1039	64001											
SALL3	27164	broad.mit.edu	37	chr18	76754796	76754796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaaatcccgctcaagacCgagaggccggacagcccagc	12	15	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr18:76754796C>T	uc002lmt.2	+	2	2805	c.2805C>T	c.(2803-2805)ACC>ACT	p.T935T	SALL3_uc010dra.2_Silent_p.T542T	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	935					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGCTCAAGACCGAGAGGCCGG	0.547													T	76754796	C	T	76754796	2	4	96	1	0	0	0	0	0	0	0	1	13812	639	23	1		1	SALL3	18	76754796	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	15190362	76754796	1322452	1040	64002											
LMNB2	84823	broad.mit.edu	37	chr19	2433832	2433832	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttccggtcaccttgtccgAgttgttcttgagctgcacaa	9	12	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:2433832A>G	uc002lvy.2	-	8	1501	c.1414T>C	c.(1414-1416)TCG>CCG	p.S472P	LMNB2_uc002lwa.1_Missense_Mutation_p.S492P	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	472	Tail.					nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTTGTCCGAGTTGTTCTTG	0.652													G	2433832	A	G	2433832	3	3	96	1	0	0	0	0	1	0	0	0	8850	304	11	3	408	3	LMNB2	19	2433832	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08		2433832	56695151	1041	64003											
SGTA	6449	broad.mit.edu	37	chr19	2767593	2767593	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccttgcccgtggcagcCgcttcaaatatctccggcag	9	16	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:2767593C>T	uc002lwi.1	-	3	339	c.192G>A	c.(190-192)GCG>GCA	p.A64A		NM_003021	NP_003012	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide	64					interspecies interaction between organisms	cytoplasm	protein binding			ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTGGCAGCCGCTTCAAATA	0.622													T	2767593	C	T	2767593	2	4	96	1	0	0	0	0	0	0	0	1	14225	639	23	1		1	SGTA	19	2767593	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	333761	2767593	56361390	1042	64004											
ZNF556	80032	broad.mit.edu	37	chr19	2877903	2877903	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caacggggagaaaccctataAgtgtggaaaatgcgggaaag	14	6	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:2877903A>C	uc002lwp.1	+	4	1034	c.947A>C	c.(946-948)AAG>ACG	p.K316T	ZNF556_uc002lwq.2_Missense_Mutation_p.K315T	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	316	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAACCCTATAAGTGTGGAAAA	0.522													C	2877903	A	C	2877903	3	2	96	1	0	0	0	0	1	0	0	0	17984	72	3	5	961	5	ZNF556	19	2877903	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	110310	2877903	56251080	1043	64005											
PIP5K1C	23396	broad.mit.edu	37	chr19	3653457	3653457	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagcccttgaggtcgaacTtgaggtgcatcttgaccacg	13	10	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:3653457T>C	uc002lyj.1	-	7	809	c.752A>G	c.(751-753)AAG>AGG	p.K251R	PIP5K1C_uc010xhq.1_Missense_Mutation_p.K251R|PIP5K1C_uc010xhr.1_Missense_Mutation_p.K251R	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	251	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GAGGTCGAACTTGAGGTGCAT	0.582													C	3653457	T	C	3653457	3	2	96	1	0	0	0	0	1	0	0	0	11941	1609	56	3	1302	3	PIP5K1C	19	3653457	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	775554	3653457	55475526	1044	64006											
MPND	84954	broad.mit.edu	37	chr19	4345893	4345893	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggctgggcctctgtcaAgtacaaaggccagaaactgg	13	10	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:4345893A>C	uc002mae.2	+	3	513	c.446A>C	c.(445-447)AAG>ACG	p.K149T	MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Missense_Mutation_p.K149T|MPND_uc002maf.2_Missense_Mutation_p.K149T|MPND_uc002mah.2_Missense_Mutation_p.K37T|MPND_uc002mai.2_Missense_Mutation_p.K37T	NM_032868	NP_116257	Q8N594	MPND_HUMAN	MPN domain containing isoform 1	149							peptidase activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTCTGTCAAGTACAAAGGC	0.627													C	4345893	A	C	4345893	3	2	96	1	0	0	0	0	1	0	0	0	9731	72	3	5	456	5	MPND	19	4345893	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	692436	4345893	54783090	1045	64007											
CHAF1A	10036	broad.mit.edu	37	chr19	4409730	4409730	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcacagcagtaccagtcccTtccccacctccacgcccctc	5	22	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:4409730T>G	uc002mal.2	+	3	1034	c.934T>G	c.(934-936)TTC>GTC	p.F312V		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	312	Binds to CBX1 chromo shadow domain.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TACCAGTCCCTTCCCCACCTC	0.622								Chromatin_Structure					G	4409730	T	G	4409730	3	3	96	1	0	0	0	0	1	0	0	0	3311	1609	56	5	944	5	CHAF1A	19	4409730	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	63837	4409730	54719253	1046	64008											
VAV1	7409	broad.mit.edu	37	chr19	6772985	6772985	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgctaccccatgccatcaAcctgcgtgaggtcaacctgc	8	17	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:6772985A>C	uc002mfu.1	+	1	264	c.167A>C	c.(166-168)AAC>ACC	p.N56T	VAV1_uc010xjh.1_Missense_Mutation_p.N56T|VAV1_uc010dva.1_Missense_Mutation_p.N56T	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	56	Leu-rich.|CH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						CATGCCATCAACCTGCGTGAG	0.652													C	6772985	A	C	6772985	3	2	96	1	0	0	0	0	1	0	0	0	17128	43	2	5	169	5	VAV1	19	6772985	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2363255	6772985	52355998	1047	64009											
ARHGEF18	23370	broad.mit.edu	37	chr19	7509198	7509198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcaaggccattggccGcctcttcccatgcgctgacg	11	16	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:7509198G>A	uc002mgi.2	+	4	1158	c.905G>A	c.(904-906)CGC>CAC	p.R302H	ARHGEF18_uc010xjm.1_Missense_Mutation_p.R144H|ARHGEF18_uc002mgh.2_Missense_Mutation_p.R144H|ARHGEF18_uc002mgj.1_5'Flank	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	302	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				GCCATTGGCCGCCTCTTCCCA	0.647													A	7509198	G	A	7509198	3	1	96	1	0	0	0	0	1	0	0	0	901	1087	38	1	919	1	ARHGEF18	19	7509198	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	736213	7509198	51619785	1048	64010											
C19orf59	199675	broad.mit.edu	37	chr19	7742562	7742562	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagaatatcaccttggcctTcaaaaatcaggaccatgcaa	7	10	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:7742562T>G	uc002mhh.1	+	2	159	c.134T>G	c.(133-135)TTC>TGC	p.F45C		NM_174918	NP_777578	Q8IX19	MCEM1_HUMAN	mast cell-expressed membrane protein 1	45	Cytoplasmic (Potential).					integral to membrane				skin(1)	1						ACCTTGGCCTTCAAAAATCAG	0.562											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	7742562	T	G	7742562	3	3	96	1	0	0	0	0	1	0	0	0	1940	1783	62	5	140	5	C19orf59	19	7742562	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	233364	7742562	51386421	1049	64011											
MUC16	94025	broad.mit.edu	37	chr19	9063622	9063622	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgctcatctgtgagtgtgAaaatccttgagatatagttg	11	5	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:9063622A>C	uc002mkp.2	-	3	24028	c.23824T>G	c.(23824-23826)TCA>GCA	p.S7942A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7944	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGTGAGTGTGAAAATCCTTGA	0.458													C	9063622	A	C	9063622	3	2	96	1	0	0	0	0	1	0	0	0	9973	246	9	5	20027	5	MUC16	19	9063622	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1321060	9063622	50065361	1050	64012											
MUC16	94025	broad.mit.edu	37	chr19	9073199	9073199	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggttgtgacaaggacaggTgcttgagaagagggagagct	17	4	0	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:9073199T>C	uc002mkp.2	-	3	14451	c.14247A>G	c.(14245-14247)GCA>GCG	p.A4749A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4751	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CAAGGACAGGTGCTTGAGAAG	0.473													C	9073199	T	C	9073199	2	2	96	1	0	0	0	0	0	0	0	1	9973	1683	59	3		3	MUC16	19	9073199	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	9577	9073199	50055784	1051	64013											
MUC16	94025	broad.mit.edu	37	chr19	9076652	9076652	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgcaactttcaagtttgaAgtcatgtctgtgacagtcca	8	9	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:9076652A>G	uc002mkp.2	-	3	10998	c.10794T>C	c.(10792-10794)ACT>ACC	p.T3598T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3599	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCAAGTTTGAAGTCATGTCTG	0.483													G	9076652	A	G	9076652	2	3	96	1	0	0	0	0	0	0	0	1	9973	59	3	3		3	MUC16	19	9076652	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3453	9076652	50052331	1052	64014											
OR7D2	162998	broad.mit.edu	37	chr19	9296924	9296924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctcattggtgtcatgacatCcctcctccatatttctctga	6	13	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:9296924C>T	uc002mkz.1	+	1	655	c.467C>T	c.(466-468)TCC>TTC	p.S156F		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D,	156	Helical; Name=4; (Potential).				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|upper_aerodigestive_tract(1)	3						GTCATGACATCCCTCCTCCAT	0.468													T	9296924	C	T	9296924	3	4	96	1	0	0	0	0	1	0	0	0	11219	855	30	4	469	4	OR7D2	19	9296924	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	220272	9296924	49832059	1053	64015											
ZNF699	374879	broad.mit.edu	37	chr19	9406765	9406765	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctctcgactttgattttTcacatgtgtattaagggaag	8	6	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:9406765T>G	uc002mlc.1	-	5	1315	c.1315A>C	c.(1315-1317)AAA>CAA	p.K439Q		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	zinc finger protein 699	439	C2H2-type 9; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTTTGATTTTTCACATGTGTA	0.418													G	9406765	T	G	9406765	3	3	96	1	0	0	0	0	1	0	0	0	18098	1792	62	5	617	5	ZNF699	19	9406765	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	109841	9406765	49722218	1054	64016											
ZNF560	147741	broad.mit.edu	37	chr19	9578937	9578937	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtactcatgttggtcttaAggcatggatgtttacagaag	12	5	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:9578937A>G	uc002mlp.1	-	10	896	c.686T>C	c.(685-687)CTT>CCT	p.L229P	ZNF560_uc010dwr.1_Missense_Mutation_p.L123P	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	229					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						GTTGGTCTTAAGGCATGGATG	0.378													G	9578937	A	G	9578937	3	3	96	1	0	0	0	0	1	0	0	0	17988	72	3	3	1690	3	ZNF560	19	9578937	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	172172	9578937	49550046	1055	64017											
RGL3	57139	broad.mit.edu	37	chr19	11515881	11515881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcggagaaaatctgcgaaAgtttcctgaaagtagatagc	10	7	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:11515881A>G	uc002mrp.2	-	9	1191	c.1127T>C	c.(1126-1128)CTT>CCT	p.L376P	RGL3_uc002mrn.2_Missense_Mutation_p.L140P|RGL3_uc002mrm.2_Missense_Mutation_p.L140P|RGL3_uc002mro.2_Missense_Mutation_p.L376P	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	376	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		p.S376S(1)		ovary(1)	1						AATCTGCGAAAGTTTCCTGAA	0.542													G	11515881	A	G	11515881	3	3	96	1	0	0	0	0	1	0	0	0	13278	72	3	3	1067	3	RGL3	19	11515881	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1936944	11515881	47613102	1056	64018											
ZNF653	115950	broad.mit.edu	37	chr19	11597811	11597811	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggcacccacttctcaggcTccttggggatttcatagatg	10	13	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:11597811T>C	uc002mrz.1	-	5	1387	c.1334A>G	c.(1333-1335)GAG>GGG	p.E445G		NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	zinc finger protein 653	445	Nuclear localization signal (Potential).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTTCTCAGGCTCCTTGGGGAT	0.677													C	11597811	T	C	11597811	3	2	96	1	0	0	0	0	1	0	0	0	18063	1551	54	3	533	3	ZNF653	19	11597811	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	81930	11597811	47531172	1057	64019											
ZNF441	126068	broad.mit.edu	37	chr19	11891643	11891643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcacactggagagaaacCgtatgaatgtaagtattgtg	10	6	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:11891643C>T	uc010dyj.2	+	4	1198	c.1004C>T	c.(1003-1005)CCG>CTG	p.P335L	ZNF441_uc002msn.3_Missense_Mutation_p.P291L	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GGAGAGAAACCGTATGAATGT	0.418													T	11891643	C	T	11891643	3	4	96	1	0	0	0	0	1	0	0	0	17911	652	23	1	1018	1	ZNF441	19	11891643	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	293832	11891643	47237340	1058	64020											
ZNF563	147837	broad.mit.edu	37	chr19	12429443	12429443	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgagtcttttcatgtcTttgacatacactgggataaa	8	8	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:12429443T>G	uc002mtp.2	-	4	1634	c.1396A>C	c.(1396-1398)AGA>CGA	p.R466R		NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	zinc finger protein 563	466	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTTTCATGTCTTTGACATACA	0.368													G	12429443	T	G	12429443	2	3	96	1	0	0	0	0	0	0	0	1	17991	1617	56	5		5	ZNF563	19	12429443	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	537800	12429443	46699540	1059	64021											
ZNF442	79973	broad.mit.edu	37	chr19	12461443	12461443	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attgcttgcattcatagggtTtctctccagtgtgagttctt	9	8	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:12461443T>G	uc002mtr.1	-	6	1567	c.956A>C	c.(955-957)AAA>ACA	p.K319T	ZNF442_uc010xmk.1_Missense_Mutation_p.K250T	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|breast(1)|kidney(1)	4						TTCATAGGGTTTCTCTCCAGT	0.423													G	12461443	T	G	12461443	3	3	96	1	0	0	0	0	1	0	0	0	17912	1841	64	5	931	5	ZNF442	19	12461443	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	32000	12461443	46667540	1060	64022											
ZNF799	90576	broad.mit.edu	37	chr19	12502375	12502375	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgtttacatgtatagggTttctttccagtgtgagttct	9	6	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:12502375T>C	uc010dyt.2	-	4	987	c.837A>G	c.(835-837)AAA>AAG	p.K279K	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						ATGTATAGGGTTTCTTTCCAG	0.423													C	12502375	T	C	12502375	2	2	96	1	0	0	0	0	0	0	0	1	18163	1722	60	3		3	ZNF799	19	12502375	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	40932	12502375	46626608	1061	64023											
PRKACA	5566	broad.mit.edu	37	chr19	14208394	14208394	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctggggaggctcctactttGctcaggataatctcaggggc	14	10	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:14208394G>C	uc002myc.2	-	7	839	c.639C>G	c.(637-639)AGC>AGG	p.S213R	PRKACA_uc002myb.2_Missense_Mutation_p.S205R|PRKACA_uc010xnm.1_Missense_Mutation_p.S155R|PRKACA_uc002myd.2_Missense_Mutation_p.S155R	NM_002730	NP_002721	P17612	KAPCA_HUMAN	cAMP-dependent protein kinase catalytic subunit	213	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			lung(1)	1						CTCCTACTTTGCTCAGGATAA	0.652													C	14208394	G	C	14208394	3	2	96	1	0	0	0	0	1	0	0	0	12497	1310	46	5	432	5	PRKACA	19	14208394	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	1706019	14208394	44920589	1062	64024											
LPHN1	22859	broad.mit.edu	37	chr19	14271421	14271421	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaccttctgggccacctggTtgacccagggggaggtgcag	16	11	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:14271421T>G	uc010xnn.1	-	8	1909	c.1613A>C	c.(1612-1614)AAC>ACC	p.N538T	LPHN1_uc010xno.1_Missense_Mutation_p.N533T|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	538	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						GGCCACCTGGTTGACCCAGGG	0.662													G	14271421	T	G	14271421	3	3	96	1	0	0	0	0	1	0	0	0	8915	1725	60	5	2879	5	LPHN1	19	14271421	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	63027	14271421	44857562	1063	64025											
EMR2	30817	broad.mit.edu	37	chr19	14857053	14857053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccatcttaccttgtgttcCggagggtggacacttcacta	9	12	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:14857053C>T	uc002mzp.1	-	18	2630	c.2174G>A	c.(2173-2175)CGG>CAG	p.R725Q	EMR2_uc010dzs.1_Missense_Mutation_p.R184Q|EMR2_uc010xnw.1_Missense_Mutation_p.R667Q|EMR2_uc002mzo.1_Missense_Mutation_p.R714Q|EMR2_uc002mzq.1_Missense_Mutation_p.R665Q|EMR2_uc002mzr.1_Missense_Mutation_p.R676Q|EMR2_uc002mzs.1_Missense_Mutation_p.R583Q|EMR2_uc002mzt.1_Missense_Mutation_p.R621Q|EMR2_uc002mzu.1_Missense_Mutation_p.R632Q|EMR2_uc010xnx.1_RNA	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	725	Cytoplasmic (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4						CCTTGTGTTCCGGAGGGTGGA	0.483													T	14857053	C	T	14857053	3	4	96	1	0	0	0	0	1	0	0	0	5105	652	23	1	313	1	EMR2	19	14857053	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	585632	14857053	44271930	1064	64026											
SLC1A6	6511	broad.mit.edu	37	chr19	15061178	15061178	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaattgagtcccccagtacGttggtcattgtgcgaagccg	11	12	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:15061178G>T	uc002naa.1	-	9	1532	c.1524C>A	c.(1522-1524)AAC>AAA	p.N508K	SLC1A6_uc010dzu.1_Missense_Mutation_p.N430K|SLC1A6_uc010xod.1_Missense_Mutation_p.N444K	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	508					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	CCCCCAGTACGTTGGTCATTG	0.577													T	15061178	G	T	15061178	3	4	96	1	0	0	0	0	1	0	0	0	14436	1136	40	5	174	5	SLC1A6	19	15061178	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	204125	15061178	44067805	1065	64027											
OR10H2	26538	broad.mit.edu	37	chr19	15839343	15839343	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtgacctcggccattTtccaactgactttctgtgga	11	10	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:15839343T>G	uc002nbm.2	+	1	510	c.490T>G	c.(490-492)TTC>GTC	p.F164V		NM_013939	NP_039227	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H,	164	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CTCGGCCATTTTCCAACTGAC	0.567													G	15839343	T	G	15839343	3	3	96	1	0	0	0	0	1	0	0	0	10906	1841	64	5	492	5	OR10H2	19	15839343	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	778165	15839343	43289640	1066	64028											
CPAMD8	27151	broad.mit.edu	37	chr19	17088246	17088246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttctccattctccctgaCgtagaagaccagcaggcgac	8	16	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:17088246C>T	uc002nfb.2	-	15	1863	c.1831G>A	c.(1831-1833)GTC>ATC	p.V611I		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	564						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TTCTCCCTGACGTAGAAGACC	0.592													T	17088246	C	T	17088246	3	4	96	1	0	0	0	0	1	0	0	0	3795	536	19	1	4079	1	CPAMD8	19	17088246	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	1248903	17088246	42040737	1067	64029											
UNC13A	23025	broad.mit.edu	37	chr19	17728589	17728589	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcgacagggcatagcgcaAggattgcaggtccgggctct	16	10	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:17728589A>C	uc002nhd.2	-	40	4744	c.4744T>G	c.(4744-4746)TTG>GTG	p.L1582V		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	1494	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						GCATAGCGCAAGGATTGCAGG	0.602													C	17728589	A	C	17728589	3	2	96	1	0	0	0	0	1	0	0	0	16981	69	3	5	647	5	UNC13A	19	17728589	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	640343	17728589	41400394	1068	64030											
GDF15	9518	broad.mit.edu	37	chr19	18499616	18499616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgcaccgcctgaagccCgacacggtgccagcgccctg	12	18	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:18499616C>T	uc002niv.2	+	2	830	c.798C>T	c.(796-798)CCC>CCT	p.P266P		NM_004864	NP_004855	Q99988	GDF15_HUMAN	growth differentiation factor 15	266					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)	1						GCCTGAAGCCCGACACGGTGC	0.637											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	18499616	C	T	18499616	2	4	96	1	0	0	0	0	0	0	0	1	6313	639	23	1		1	GDF15	19	18499616	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	771027	18499616	40629367	1069	64031											
ZNF93	81931	broad.mit.edu	37	chr19	20044675	20044675	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaacacttactaaacataAgaaaattcatactggagaga	5	8	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:20044675A>C	uc002non.2	+	4	1022	c.911A>C	c.(910-912)AAG>ACG	p.K304T		NM_031218	NP_112495	P35789	ZNF93_HUMAN	zinc finger protein 93	304	C2H2-type 6.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1						ACTAAACATAAGAAAATTCAT	0.363													C	20044675	A	C	20044675	3	2	96	1	0	0	0	0	1	0	0	0	18199	72	3	5	925	5	ZNF93	19	20044675	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1545059	20044675	39084308	1070	64032											
ZNF493	284443	broad.mit.edu	37	chr19	21606364	21606364	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaacaatatggcaaaacTtttaaccaatcttcaaccct	4	10	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:21606364T>G	uc002npx.2	+	2	799	c.519T>G	c.(517-519)ACT>ACG	p.T173T	ZNF493_uc002npw.2_Silent_p.T301T|ZNF493_uc002npy.2_Silent_p.T173T	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 1	173	C2H2-type 6; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATGGCAAAACTTTTAACCAAT	0.333													G	21606364	T	G	21606364	2	3	96	1	0	0	0	0	0	0	0	1	17941	1596	56	5		5	ZNF493	19	21606364	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1561689	21606364	37522619	1071	64033											
ZNF43	7594	broad.mit.edu	37	chr19	21990896	21990896	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attcttcacatttgtagggtTtctcctcagtgtgaattatc	7	8	4	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:21990896T>G	uc002nqj.2	-	4	2073	c.1943A>C	c.(1942-1944)AAA>ACA	p.K648T	ZNF43_uc010ecv.2_Missense_Mutation_p.K642T|ZNF43_uc002nql.2_Missense_Mutation_p.K642T|ZNF43_uc002nqm.2_Missense_Mutation_p.K642T|ZNF43_uc002nqk.2_Missense_Mutation_p.K578T	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTTGTAGGGTTTCTCCTCAGT	0.368													G	21990896	T	G	21990896	3	3	96	1	0	0	0	0	1	0	0	0	17900	1841	64	5	490	5	ZNF43	19	21990896	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	384532	21990896	37138087	1072	64034											
ZNF681	148213	broad.mit.edu	37	chr19	23927176	23927176	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattcttcacatttgtagggTttctctccagtatgaattat	6	8	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:23927176T>G	uc002nrk.3	-	4	1318	c.1176A>C	c.(1174-1176)AAA>AAC	p.K392N	ZNF681_uc002nrl.3_Missense_Mutation_p.K323N|ZNF681_uc002nrj.3_Missense_Mutation_p.K323N	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATTTGTAGGGTTTCTCTCCAG	0.408													G	23927176	T	G	23927176	3	3	96	1	0	0	0	0	1	0	0	0	18085	1722	60	5	765	5	ZNF681	19	23927176	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1936280	23927176	35201807	1073	64035											
ARHGAP33	115703	broad.mit.edu	37	chr19	36275211	36275211	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcacctccgccggcctcgAccctgcaggtatgccctccc	8	21	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:36275211A>G	uc002obr.1	+	16	1644	c.1559A>G	c.(1558-1560)GAC>GGC	p.D520G	ARHGAP33_uc002obs.1_Missense_Mutation_p.D520G|ARHGAP33_uc002obt.1_Missense_Mutation_p.D384G|ARHGAP33_uc010eel.2_Missense_Mutation_p.D108G|ARHGAP33_uc002obv.1_Missense_Mutation_p.D108G	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	520					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						GCCGGCCTCGACCCTGCAGGT	0.677													G	36275211	A	G	36275211	3	3	96	1	0	0	0	0	1	0	0	0	882	275	10	3	1621	3	ARHGAP33	19	36275211	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	12348035	36275211	22853772	1074	64036											
APLP1	333	broad.mit.edu	37	chr19	36362645	36362645	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccatctgggacagcagtTgggtgagtgggagggaaccc	17	9	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:36362645T>G	uc002oce.2	+	5	807	c.669T>G	c.(667-669)GTT>GTG	p.V223V	APLP1_uc010xsz.1_Silent_p.V184V|APLP1_uc002ocf.2_Silent_p.V223V|APLP1_uc002ocg.2_Silent_p.V126V|APLP1_uc010xta.1_Silent_p.V217V	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	223	Extracellular (Potential).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			ovary(2)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGACAGCAGTTGGGTGAGTGG	0.637													G	36362645	T	G	36362645	2	3	96	1	0	0	0	0	0	0	0	1	778	1799	63	5		5	APLP1	19	36362645	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	87434	36362645	22766338	1075	64037											
NFKBID	84807	broad.mit.edu	37	chr19	36387301	36387301	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctggccataccaagagaActcctgggagcccgtaggta	12	12	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:36387301A>C	uc002oci.1	-	7	972	c.398T>G	c.(397-399)GTT>GGT	p.V133G	NFKBID_uc002och.1_5'UTR|NFKBID_uc002ocj.1_Missense_Mutation_p.V148G	NM_139239	NP_640332	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene	133	ANK 3.				inflammatory response	nucleus					0						TACCAAGAGAACTCCTGGGAG	0.602													C	36387301	A	C	36387301	3	2	96	1	0	0	0	0	1	0	0	0	10379	43	2	5	567	5	NFKBID	19	36387301	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	24656	36387301	22741682	1076	64038											
ZFP82	284406	broad.mit.edu	37	chr19	36884189	36884189	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgatggagtgttagttgTtgtcgcactctaaaggcctt	11	8	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:36884189T>G	uc002ody.1	-	5	1288	c.1053A>C	c.(1051-1053)CAA>CAC	p.Q351H		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	zinc finger protein 82 homolog	351	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						GTGTTAGTTGTTGTCGCACTC	0.423													G	36884189	T	G	36884189	3	3	96	1	0	0	0	0	1	0	0	0	17650	1722	60	5	549	5	ZFP82	19	36884189	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	496888	36884189	22244794	1077	64039											
ZFP82	284406	broad.mit.edu	37	chr19	36898797	36898797	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agataaccttacccagtgagAccaagttgctgtagttctcc	8	11	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:36898797A>C	uc002ody.1	-	3	363	c.128T>G	c.(127-129)GTC>GGC	p.V43G		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	zinc finger protein 82 homolog	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						ACCCAGTGAGACCAAGTTGCT	0.403													C	36898797	A	C	36898797	3	2	96	1	0	0	0	0	1	0	0	0	17650	275	10	5	1482	5	ZFP82	19	36898797	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	14608	36898797	22230186	1078	64040											
ZNF382	84911	broad.mit.edu	37	chr19	37117974	37117974	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaagtgcctttaggaagaAgtcatacctcattgatcacc	9	9	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:37117974A>C	uc002oek.2	+	5	1288	c.1175A>C	c.(1174-1176)AAG>ACG	p.K392T	ZNF382_uc010efa.2_Missense_Mutation_p.K343T|ZNF382_uc010efb.2_Missense_Mutation_p.K391T|ZNF382_uc002oel.2_Missense_Mutation_p.K391T	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	zinc finger protein 382	392	C2H2-type 5.|Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTTAGGAAGAAGTCATACCTC	0.473													C	37117974	A	C	37117974	3	2	96	1	0	0	0	0	1	0	0	0	17870	72	3	5	1185	5	ZNF382	19	37117974	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	219177	37117974	22011009	1079	64041											
ZNF793	390927	broad.mit.edu	37	chr19	38028502	38028502	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagaccctttgtctgcagTgaatgcgggaaatcgtttgg	14	7	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:38028502T>G	uc010efm.2	+	8	1384	c.942T>G	c.(940-942)AGT>AGG	p.S314R	ZNF793_uc010xts.1_Missense_Mutation_p.S314R|ZNF793_uc010efo.2_Intron	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	zinc finger protein 793	314	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTGTCTGCAGTGAATGCGGGA	0.448													G	38028502	T	G	38028502	3	3	96	1	0	0	0	0	1	0	0	0	18162	1693	59	5	956	5	ZNF793	19	38028502	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	910528	38028502	21100481	1080	64042											
ZNF573	126231	broad.mit.edu	37	chr19	38230164	38230164	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cattcatagggtttctcgccAgtatgagttttctgatgttg	10	7	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:38230164A>T	uc002ohe.2	-	4	1249	c.1227T>A	c.(1225-1227)ACT>ACA	p.T409T	ZNF573_uc010efs.2_Silent_p.T322T|ZNF573_uc002ohd.2_Silent_p.T407T|ZNF573_uc002ohf.2_Silent_p.T351T|ZNF573_uc002ohg.2_Silent_p.T321T	NM_152360	NP_689573	Q86YE8	ZN573_HUMAN	zinc finger protein 573	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			GTTTCTCGCCAGTATGAGTTT	0.383													T	38230164	A	T	38230164	2	4	96	1	0	0	0	0	0	0	0	1	18002	175	7	5		5	ZNF573	19	38230164	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	201662	38230164	20898819	1081	64043											
ZNF573	126231	broad.mit.edu	37	chr19	38230495	38230495	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctcacatatgtatggcttcTcatcagtatgaaactgccca	6	11	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:38230495T>A	uc002ohe.2	-	4	918	c.896A>T	c.(895-897)GAG>GTG	p.E299V	ZNF573_uc010efs.2_Missense_Mutation_p.E212V|ZNF573_uc002ohd.2_Missense_Mutation_p.E297V|ZNF573_uc002ohf.2_Missense_Mutation_p.E241V|ZNF573_uc002ohg.2_Missense_Mutation_p.E211V	NM_152360	NP_689573	Q86YE8	ZN573_HUMAN	zinc finger protein 573	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			GTATGGCTTCTCATCAGTATG	0.403													A	38230495	T	A	38230495	3	1	96	1	0	0	0	0	1	0	0	0	18002	1551	54	5	1105	5	ZNF573	19	38230495	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	331	38230495	20898488	1082	64044											
RYR1	6261	broad.mit.edu	37	chr19	38995497	38995497	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatctaaggcagagaaaaAggccacagtggatgctgaag	12	8	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:38995497A>C	uc002oit.2	+	51	8307	c.8177A>C	c.(8176-8178)AAG>ACG	p.K2726T	RYR1_uc002oiu.2_Missense_Mutation_p.K2726T|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2726	5.|Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAGAGAAAAAGGCCACAGTG	0.597													C	38995497	A	C	38995497	3	2	96	1	0	0	0	0	1	0	0	0	13768	72	3	5	8379	5	RYR1	19	38995497	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	765002	38995497	20133486	1083	64045											
EIF3K	27335	broad.mit.edu	37	chr19	39123298	39123298	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgctggctgctggccgAgatgctcggggatctgtcgg	17	11	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:39123298A>G	uc002oiz.1	+	6	666	c.479A>G	c.(478-480)GAG>GGG	p.E160G	EIF3K_uc010xuh.1_Missense_Mutation_p.E160G|EIF3K_uc010xui.1_Missense_Mutation_p.E73G	NM_013234	NP_037366	Q9UBQ5	EIF3K_HUMAN	eukaryotic translation initiation factor 3,	160					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGCTGGCCGAGATGCTCGGG	0.602													G	39123298	A	G	39123298	3	3	96	1	0	0	0	0	1	0	0	0	5021	304	11	3	501	3	EIF3K	19	39123298	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	127801	39123298	20005685	1084	64046											
LRFN1	57622	broad.mit.edu	37	chr19	39805078	39805078	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccgcctgccgtgtgatcAgcgggggctcacacaggaac	13	16	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:39805078A>C	uc002okw.2	-	1	899	c.899T>G	c.(898-900)CTG>CGG	p.L300R		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	300	Ig-like.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCGTGTGATCAGCGGGGGCTC	0.706													C	39805078	A	C	39805078	3	2	96	1	0	0	0	0	1	0	0	0	8937	188	7	5	1424	5	LRFN1	19	39805078	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	681780	39805078	19323905	1085	64047											
ATP1A3	478	broad.mit.edu	37	chr19	42479813	42479813	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgacgatggaggcaaagTtgtcgtccagcaggatcatg	14	8	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:42479813T>G	uc002osg.2	-	16	2385	c.2231A>C	c.(2230-2232)AAC>ACC	p.N744T	ATP1A3_uc010xwf.1_Missense_Mutation_p.N755T|ATP1A3_uc010xwg.1_Missense_Mutation_p.N714T|ATP1A3_uc010xwh.1_Missense_Mutation_p.N757T|ATP1A3_uc002osh.2_Missense_Mutation_p.N744T	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	744	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						GGAGGCAAAGTTGTCGTCCAG	0.632													G	42479813	T	G	42479813	3	3	96	1	0	0	0	0	1	0	0	0	1130	1725	60	5	842	5	ATP1A3	19	42479813	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2674735	42479813	16649170	1086	64048											
ATP1A3	478	broad.mit.edu	37	chr19	42480634	42480634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgggcgaagacgatctcGgtgtgattctgcaggatctc	15	9	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:42480634G>A	uc002osg.2	-	15	2182	c.2028C>T	c.(2026-2028)ACC>ACT	p.T676T	ATP1A3_uc010xwf.1_Silent_p.T687T|ATP1A3_uc010xwg.1_Silent_p.T646T|ATP1A3_uc010xwh.1_Silent_p.T689T|ATP1A3_uc002osh.2_Silent_p.T676T	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	676	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						AGACGATCTCGGTGTGATTCT	0.557													A	42480634	G	A	42480634	2	1	96	1	0	0	0	0	0	0	0	1	1130	1103	39	1		1	ATP1A3	19	42480634	Silent	SNP	G	TCGA-BR-8589-01A-11D-2394-08	821	42480634	16648349	1087	64049											
CEACAM8	1088	broad.mit.edu	37	chr19	43098046	43098046	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgggttccagaaggtgaaaAgtgaggctaggagggggaga	20	4	0	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:43098046A>C	uc002oud.2	-	2	173	c.71T>G	c.(70-72)CTT>CGT	p.L24R	uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion	24					immune response	anchored to membrane|extracellular space|integral to plasma membrane				ovary(1)	1		Prostate(69;0.00899)				GAAGGTGAAAAGTGAGGCTAG	0.448													C	43098046	A	C	43098046	3	2	96	1	0	0	0	0	1	0	0	0	3198	72	3	5	994	5	CEACAM8	19	43098046	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	617412	43098046	16030937	1088	64050											
PSG8	440533	broad.mit.edu	37	chr19	43268119	43268119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctctattctcatcacctcCcattatgatgtgtaaggtgt	6	11	3	1	rs148091598	byFrequency	TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:43268119C>T	uc002ouo.2	-	2	477	c.379G>A	c.(379-381)GGA>AGA	p.G127R	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_Intron|PSG8_uc002ouh.2_Missense_Mutation_p.G127R|PSG8_uc010ein.2_Intron|PSG8_uc002ouj.3_Missense_Mutation_p.G2R|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Missense_Mutation_p.G127R|PSG8_uc002oum.3_Missense_Mutation_p.G127R|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.G127R	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8 isoform	127	Ig-like V-type.					extracellular region					0		Prostate(69;0.00899)				TCATCACCTCCCATTATGATG	0.473													T	43268119	C	T	43268119	3	4	96	1	0	0	0	0	1	0	0	0	12661	632	22	4	938	4	PSG8	19	43268119	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	170073	43268119	15860864	1089	64051											
XRCC1	7515	broad.mit.edu	37	chr19	44050801	44050801	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcactggtgaggctgcttTggtctcttcaggggttgggg	18	7	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:44050801T>C	uc002owt.2	-	12	1492	c.1372A>G	c.(1372-1374)AAA>GAA	p.K458E	XRCC1_uc010xwp.1_Missense_Mutation_p.K427E	NM_006297	NP_006288	P18887	XRCC1_HUMAN	X-ray repair cross complementing protein 1	458					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7		Prostate(69;0.0153)				GAGGCTGCTTTGGTCTCTTCA	0.473								Other_BER_factors					C	44050801	T	C	44050801	3	2	96	1	0	0	0	0	1	0	0	0	17449	1821	63	3	553	3	XRCC1	19	44050801	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	782682	44050801	15078182	1090	64052											
ZNF224	7767	broad.mit.edu	37	chr19	44611504	44611504	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcgagtccacagtggagaAaaaccattcaaatgtgaaga	10	8	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:44611504A>C	uc002oyh.1	+	6	1493	c.1191A>C	c.(1189-1191)GAA>GAC	p.E397D	uc002oyi.2_RNA	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	397					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				ACAGTGGAGAAAAACCATTCA	0.423													C	44611504	A	C	44611504	3	2	96	1	0	0	0	0	1	0	0	0	17775	11	1	5	1205	5	ZNF224	19	44611504	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	560703	44611504	14517479	1091	64053											
SLC8A2	6543	broad.mit.edu	37	chr19	47951490	47951490	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaacaccagcgtgccctcgcTgcggcggggtggggaggggg	21	11	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:47951490T>A	uc002pgx.2	-	4	1619	c.1341_splice	c.e4-1	p.S447_splice	SLC8A2_uc010xyq.1_Splice_Site_p.S203_splice|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Splice_Site_p.S447_splice	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor						cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GTGCCCTCGCTGCGGCGGGGT	0.632													A	47951490	T	A	47951490	5	1	96	1	0	0	0	0	0	0	1	0	14707	1594	55	5	1454	5	SLC8A2	19	47951490	Splice_Site	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3339986	47951490	11177493	1092	64054											
SLC8A2	6543	broad.mit.edu	37	chr19	47960262	47960262	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtagaaggtgctgttgcccTcgccgccctggcacgtgacg	14	14	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:47960262T>A	uc002pgx.2	-	3	1543	c.1265A>T	c.(1264-1266)GAG>GTG	p.E422V	SLC8A2_uc010xyq.1_Missense_Mutation_p.E178V|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.E422V	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	422	Calx-beta 1.|Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GCTGTTGCCCTCGCCGCCCTG	0.667													A	47960262	T	A	47960262	3	1	96	1	0	0	0	0	1	0	0	0	14707	1551	54	5	1532	5	SLC8A2	19	47960262	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	8772	47960262	11168721	1093	64055											
PLA2G4C	8605	broad.mit.edu	37	chr19	48608695	48608695	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcccaggaattatggaaacTtcagagcttcccaggagaaa	10	9	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:48608695T>G	uc002phx.2	-	3	413	c.15A>C	c.(13-15)GAA>GAC	p.E5D	PLA2G4C_uc002phw.2_5'UTR|PLA2G4C_uc010elr.2_Missense_Mutation_p.E5D|PLA2G4C_uc010xzd.1_Intron|PLA2G4C_uc002phy.3_Missense_Mutation_p.E5D	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC isoform 1 precursor	5	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			ovary(1)|skin(1)	2		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TTATGGAAACTTCAGAGCTTC	0.463													G	48608695	T	G	48608695	3	3	96	1	0	0	0	0	1	0	0	0	12003	1606	56	5	1674	5	PLA2G4C	19	48608695	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	648433	48608695	10520288	1094	64056											
MYBPC2	4606	broad.mit.edu	37	chr19	50951573	50951573	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgaggtgtctgatgagaaAgtgacgggcaagtggtataa	16	4	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:50951573A>C	uc002psf.2	+	13	1449	c.1398A>C	c.(1396-1398)AAA>AAC	p.K466N		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	466	Ig-like C2-type 4.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CTGATGAGAAAGTGACGGGCA	0.562													C	50951573	A	C	50951573	3	2	96	1	0	0	0	0	1	0	0	0	10012	69	3	5	1448	5	MYBPC2	19	50951573	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2342878	50951573	8177410	1095	64057											
SYT3	84258	broad.mit.edu	37	chr19	51129247	51129247	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggtagcagagtgagaAgttgagctccccaagatctg	16	7	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:51129247A>C	uc002pst.2	-	5	1943	c.1309T>G	c.(1309-1311)TTC>GTC	p.F437V	SYT3_uc002psv.2_Missense_Mutation_p.F437V|SYT3_uc010ycd.1_Missense_Mutation_p.F437V	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	437	C2 2.|Cytoplasmic (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CAGAGTGAGAAGTTGAGCTCC	0.557													C	51129247	A	C	51129247	3	2	96	1	0	0	0	0	1	0	0	0	15472	72	3	5	479	5	SYT3	19	51129247	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	177674	51129247	7999736	1096	64058											
SYT3	84258	broad.mit.edu	37	chr19	51140563	51140563	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctcggattcggtcattgaActcctggcacctgtcgttgg	12	12	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:51140563A>C	uc002pst.2	-	1	740	c.106T>G	c.(106-108)TTC>GTC	p.F36V	SYT3_uc002psv.2_Missense_Mutation_p.F36V|SYT3_uc010ycd.1_Missense_Mutation_p.F36V	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	36	Vesicular (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CGGTCATTGAACTCCTGGCAC	0.632													C	51140563	A	C	51140563	3	2	96	1	0	0	0	0	1	0	0	0	15472	43	2	5	1698	5	SYT3	19	51140563	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	11316	51140563	7988420	1097	64059											
KLK3	354	broad.mit.edu	37	chr19	51361465	51361465	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccgcctgtcagagccTgccgagctcacggatgctgt	12	15	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:51361465T>C	uc002pts.1	+	3	428	c.387T>C	c.(385-387)CCT>CCC	p.P129P	KLK3_uc010ycj.1_Intron|KLK3_uc002ptr.1_Silent_p.P86P|KLK3_uc010eof.1_RNA	NM_001030047	NP_001025218	P07288	KLK3_HUMAN	prostate specific antigen isoform 3	129	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		TGTCAGAGCCTGCCGAGCTCA	0.617													C	51361465	T	C	51361465	2	2	96	1	0	0	0	0	0	0	0	1	8405	1567	55	3		3	KLK3	19	51361465	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	220902	51361465	7767518	1098	64060											
KLK10	5655	broad.mit.edu	37	chr19	51520422	51520422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtccaccaggacacccgcGcagtggaacgagaggccgtt	14	13	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:51520422G>A	uc002puy.2	-	3	294	c.213C>T	c.(211-213)TGC>TGT	p.C71C	KLK10_uc002puz.2_Silent_p.C71C|KLK10_uc002pva.2_Silent_p.C71C	NM_145888	NP_665895	O43240	KLK10_HUMAN	kallikrein-related peptidase 10 preproprotein	71	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			lung(2)	2		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GGACACCCGCGCAGTGGAACG	0.672											OREG0025646	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	51520422	G	A	51520422	2	1	96	1	0	0	0	0	0	0	0	1	8398	1079	38	1		1	KLK10	19	51520422	Silent	SNP	G	TCGA-BR-8589-01A-11D-2394-08	158957	51520422	7608561	1099	64061											
CD33	945	broad.mit.edu	37	chr19	51742771	51742771	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccttctttcctctccataAgaaacaccagaagaagtcca	4	15	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:51742771A>G	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	0.502													G	51742771	A	G	51742771	5	3	96	1	0	0	0	0	0	0	1	0	3005	86	3	3	962	3	CD33	19	51742771	Splice_Site	SNP	A	TCGA-BR-8589-01A-11D-2394-08	222349	51742771	7386212	1100	64062											
ZNF480	147657	broad.mit.edu	37	chr19	52825169	52825169	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccagccttactaaacatcaAgtaatccatactgtagagaa	5	10	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:52825169A>T	uc010ydl.1	+	5	736	c.666A>T	c.(664-666)CAA>CAT	p.Q222H	ZNF480_uc002pyv.2_Missense_Mutation_p.Q145H|ZNF480_uc010ydm.1_Missense_Mutation_p.Q179H|ZNF480_uc010epn.2_Missense_Mutation_p.Q53H|uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	222	C2H2-type 1; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		CTAAACATCAAGTAATCCATA	0.373													T	52825169	A	T	52825169	3	4	96	1	0	0	0	0	1	0	0	0	17932	69	3	5	680	5	ZNF480	19	52825169	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1082398	52825169	6303814	1101	64063											
ZNF816A	125893	broad.mit.edu	37	chr19	53454176	53454176	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacactcattacacttgtaAgttttctcaccagtgtgaca	5	12	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:53454176A>C	uc002qal.1	-	5	1153	c.852T>G	c.(850-852)ACT>ACG	p.T284T	ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Silent_p.T268T	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN	zinc finger protein 816A	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0313)		TACACTTGTAAGTTTTCTCAC	0.373													C	53454176	A	C	53454176	2	2	96	1	0	0	0	0	0	0	0	1	18174	59	3	5		5	ZNF816A	19	53454176	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	629007	53454176	5674807	1102	64064											
BIRC8	112401	broad.mit.edu	37	chr19	53793027	53793027	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatgtccacaaggaataaAaacaacagcgatatgtctgt	8	8	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:53793027A>C	uc002qbk.2	-	1	1849	c.601T>G	c.(601-603)TTT>GTT	p.F201V		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat-containing 8	201	RING-type.				apoptosis		zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(134;0.00304)		CAAGGAATAAAAACAACAGCG	0.443													C	53793027	A	C	53793027	3	2	96	1	0	0	0	0	1	0	0	0	1440	14	1	5	113	5	BIRC8	19	53793027	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	338851	53793027	5335956	1103	64065											
ZNF331	55422	broad.mit.edu	37	chr19	54079977	54079977	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcagcatatgaaaataagAgtttacctacagaaaaaaac	6	6	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:54079977A>C	uc002qbx.1	+	7	1597	c.163A>C	c.(163-165)AGT>CGT	p.S55R	ZNF331_uc002qby.1_Missense_Mutation_p.S55R|ZNF331_uc002qbz.1_Missense_Mutation_p.S55R|ZNF331_uc002qca.1_Missense_Mutation_p.S55R|ZNF331_uc010eqr.1_Missense_Mutation_p.S55R|ZNF331_uc002qcb.1_Missense_Mutation_p.S55R|ZNF331_uc002qcc.1_Missense_Mutation_p.S55R|ZNF331_uc002qcd.1_Missense_Mutation_p.S55R	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6				GBM - Glioblastoma multiforme(134;0.00555)		TGAAAATAAGAGTTTACCTAC	0.358			T	?	follicular thyroid adenoma								C	54079977	A	C	54079977	3	2	96	1	0	0	0	0	1	0	0	0	17846	304	11	5	173	5	ZNF331	19	54079977	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	286950	54079977	5049006	1104	64066											
LILRA5	353514	broad.mit.edu	37	chr19	54823827	54823827	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaggcagagcagaaccatgAgggcagggctcacggcgtct	16	11	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:54823827A>G	uc002qfe.2	-	2	188	c.68T>C	c.(67-69)CTC>CCC	p.L23P	LILRA5_uc002qff.2_Missense_Mutation_p.L23P|LILRA5_uc010yev.1_Missense_Mutation_p.L23P|LILRA5_uc010yew.1_Missense_Mutation_p.L23P|LILRA5_uc002qfh.1_Missense_Mutation_p.L23P|LILRA5_uc002qfg.1_Missense_Mutation_p.L23P	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor subfamily	23					innate immune response	extracellular region|integral to membrane	receptor activity			upper_aerodigestive_tract(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGAACCATGAGGGCAGGGCT	0.617													G	54823827	A	G	54823827	3	3	96	1	0	0	0	0	1	0	0	0	8788	304	11	3	941	3	LILRA5	19	54823827	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	743850	54823827	4305156	1105	64067											
LENG8	114823	broad.mit.edu	37	chr19	54969734	54969734	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agctcccttctgcctttgctCttcccatccttccgcctcgc	5	20	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:54969734C>T	uc002qfv.1	+	14	2307	c.2163C>T	c.(2161-2163)CTC>CTT	p.L721L	LENG8_uc002qfw.2_Intron			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	721							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TGCCTTTGCTCTTCCCATCCT	0.617													T	54969734	C	T	54969734	2	4	96	1	0	0	0	0	0	0	0	1	8724	928	32	4		4	LENG8	19	54969734	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	145907	54969734	4159249	1106	64068											
NCR1	9437	broad.mit.edu	37	chr19	55421419	55421419	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcacctgaagaccccaccTttcctggtgagtaactggtc	9	13	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:55421419T>G	uc002qib.2	+	5	714	c.676T>G	c.(676-678)TTT>GTT	p.F226V	NCR1_uc002qic.2_Missense_Mutation_p.F226V|NCR1_uc002qie.2_Missense_Mutation_p.F226V|NCR1_uc002qid.2_Missense_Mutation_p.F131V|NCR1_uc002qif.2_Missense_Mutation_p.F131V|NCR1_uc010esj.2_Missense_Mutation_p.F119V	NM_004829	NP_004820	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	226	Extracellular (Potential).				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(193;0.0449)		AGACCCCACCTTTCCTGGTGA	0.448													G	55421419	T	G	55421419	3	3	96	1	0	0	0	0	1	0	0	0	10237	1609	56	5	694	5	NCR1	19	55421419	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	451685	55421419	3707564	1107	64069											
NLRP7	199713	broad.mit.edu	37	chr19	55451541	55451541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgcaggggcccatgcggcTgagctccttgcagctgaggt	15	12	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:55451541T>C	uc002qih.3	-	4	722	c.646A>G	c.(646-648)AGC>GGC	p.S216G	NLRP7_uc002qig.3_Missense_Mutation_p.S216G|NLRP7_uc002qii.3_Missense_Mutation_p.S216G|NLRP7_uc010esk.2_Missense_Mutation_p.S216G|NLRP7_uc010esl.2_Missense_Mutation_p.S244G	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	216	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		CCCATGCGGCTGAGCTCCTTG	0.552													C	55451541	T	C	55451541	3	2	96	1	0	0	0	0	1	0	0	0	10482	1580	55	3	2499	3	NLRP7	19	55451541	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	30122	55451541	3677442	1108	64070											
SYT5	6861	broad.mit.edu	37	chr19	55686273	55686273	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtcctcctacgtccatcTtcttcaggtttttagcctcc	5	15	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:55686273T>G	uc002qjm.1	-	6	1863	c.803A>C	c.(802-804)AAG>ACG	p.K268T	SYT5_uc002qjp.2_Missense_Mutation_p.K264T|SYT5_uc002qjn.1_Missense_Mutation_p.K268T|SYT5_uc002qjo.1_Missense_Mutation_p.K267T	NM_003180	NP_003171	O00445	SYT5_HUMAN	synaptotagmin V	268	Cytoplasmic (Potential).|C2 2.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TACGTCCATCTTCTTCAGGTT	0.582													G	55686273	T	G	55686273	3	3	96	1	0	0	0	0	1	0	0	0	15474	1609	56	5	369	5	SYT5	19	55686273	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	234732	55686273	3442710	1109	64071											
BRSK1	84446	broad.mit.edu	37	chr19	55800909	55800909	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actacctggtaaagaaggggAgactgacgcccaaggaggcc	14	10	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:55800909A>T	uc002qkg.2	+	4	656	c.379A>T	c.(379-381)AGA>TGA	p.R127*	BRSK1_uc002qkf.2_Nonsense_Mutation_p.R143*	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	127	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AAAGAAGGGGAGACTGACGCC	0.582													T	55800909	A	T	55800909	4	4	96	1	0	0	0	0	0	1	0	0	1523	296	11	5	393	5	BRSK1	19	55800909	Nonsense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	114636	55800909	3328074	1110	64072											
ZNF628	89887	broad.mit.edu	37	chr19	55993985	55993985	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgctaccacctgcgggaCcacacgggcgagcggcccta	13	17	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:55993985C>G	uc002qld.2	+	3	1978	c.1413C>G	c.(1411-1413)GAC>GAG	p.D471E	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	471	C2H2-type 10.					nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		ACCTGCGGGACCACACGGGCG	0.711													G	55993985	C	G	55993985	3	3	96	1	0	0	0	0	1	0	0	0	18049	506	18	5	1415	5	ZNF628	19	55993985	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	193076	55993985	3134998	1111	64073											
NLRP9	338321	broad.mit.edu	37	chr19	56249468	56249468	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atccagcacttacttctcatCtcttcctgagcctttgtcca	4	15	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:56249468C>G	uc002qly.2	-	1	301	c.273G>C	c.(271-273)GAG>GAC	p.E91D		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	91	DAPIN.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TACTTCTCATCTCTTCCTGAG	0.498													G	56249468	C	G	56249468	3	3	96	1	0	0	0	0	1	0	0	0	10484	912	32	5	2738	5	NLRP9	19	56249468	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	255483	56249468	2879515	1112	64074											
NLRP9	338321	broad.mit.edu	37	chr19	56249481	56249481	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcatctcttcctgagccTttgtccagagatctttccta	5	13	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:56249481T>G	uc002qly.2	-	1	288	c.260A>C	c.(259-261)AAG>ACG	p.K87T		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	87	DAPIN.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTCCTGAGCCTTTGTCCAGAG	0.493													G	56249481	T	G	56249481	3	3	96	1	0	0	0	0	1	0	0	0	10484	1609	56	5	2751	5	NLRP9	19	56249481	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	13	56249481	2879502	1113	64075											
ZNF471	57573	broad.mit.edu	37	chr19	57036399	57036399	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaccctatgaatgtaaAgaatgtggcaaagccttcag	10	7	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:57036399A>G	uc002qnh.2	+	5	1096	c.963A>G	c.(961-963)AAA>AAG	p.K321K		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	321	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ATGAATGTAAAGAATGTGGCA	0.438													G	57036399	A	G	57036399	2	3	96	1	0	0	0	0	0	0	0	1	17927	69	3	3		3	ZNF471	19	57036399	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	786918	57036399	2092584	1114	64076											
ZNF264	9422	broad.mit.edu	37	chr19	57723710	57723710	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaccaccgatcctacctcaaGaggcaccagcggattcacac	7	16	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:57723710G>A	uc002qob.2	+	4	1658	c.1245G>A	c.(1243-1245)AAG>AAA	p.K415K		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	415	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CCTACCTCAAGAGGCACCAGC	0.532													A	57723710	G	A	57723710	2	1	96	1	0	0	0	0	0	0	0	1	17801	933	33	4		4	ZNF264	19	57723710	Silent	SNP	G	TCGA-BR-8589-01A-11D-2394-08	687311	57723710	1405273	1115	64077											
ZNF548	147694	broad.mit.edu	37	chr19	57909914	57909914	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gccagaaggtccaccctagtGagacatgtggcccacccttg	11	14	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:57909914G>T	uc002qom.2	+	3	509	c.259G>T	c.(259-261)GAG>TAG	p.E87*	ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Nonsense_Mutation_p.E90*	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCACCCTAGTGAGACATGTGG	0.483													T	57909914	G	T	57909914	4	4	96	1	0	0	0	0	0	1	0	0	17977	1291	45	5	309	5	ZNF548	19	57909914	Nonsense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	186204	57909914	1219069	1116	64078											
ZNF772	400720	broad.mit.edu	37	chr19	57985254	57985254	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctttctccagtgtggacTctctggtgttgaacaagtga	12	9	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:57985254T>C	uc002qot.2	-	5	1119	c.858A>G	c.(856-858)AGA>AGG	p.R286R	ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Silent_p.R245R|ZNF772_uc010ygz.1_Silent_p.R174R|ZNF772_uc010yha.1_Silent_p.R232R|ZNF772_uc002qou.2_Silent_p.R174R	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	zinc finger protein 772 isoform 1	286	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		CAGTGTGGACTCTCTGGTGTT	0.488													C	57985254	T	C	57985254	2	2	96	1	0	0	0	0	0	0	0	1	18142	1548	54	3		3	ZNF772	19	57985254	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	75340	57985254	1143729	1117	64079											
ZNF550	162972	broad.mit.edu	37	chr19	58059222	58059222	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcatttccaaaagcccTtcctcatccctagctctccc	3	18	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:58059222T>G	uc002qpe.1	-	2	267	c.267A>C	c.(265-267)GAA>GAC	p.E89D	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN	zinc finger protein 550	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCAAAAGCCCTTCCTCATCCC	0.532													G	58059222	T	G	58059222	3	3	96	1	0	0	0	0	1	0	0	0	17979	1606	56	5	882	5	ZNF550	19	58059222	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	73968	58059222	1069761	1118	64080											
ZNF550	162972	broad.mit.edu	37	chr19	58067709	58067709	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaggtcacagccacatccTtgaaggtcaccaacatctgg	8	12	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:58067709T>G	uc002qpe.1	-	1	17	c.17A>C	c.(16-18)AAG>ACG	p.K6T	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_3'UTR|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN	zinc finger protein 550	15	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGCCACATCCTTGAAGGTCAC	0.527													G	58067709	T	G	58067709	3	3	96	1	0	0	0	0	1	0	0	0	17979	1609	56	5	1136	5	ZNF550	19	58067709	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	8487	58067709	1061274	1119	64081											
ZNF530	348327	broad.mit.edu	37	chr19	58117644	58117644	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaaatcctttagtcaaAgttctggctttcttcgacac	9	9	3	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:58117644A>G	uc002qpk.2	+	3	971	c.751A>G	c.(751-753)AGT>GGT	p.S251G	ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	251	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTTTAGTCAAAGTTCTGGCTT	0.408													G	58117644	A	G	58117644	3	3	96	1	0	0	0	0	1	0	0	0	17968	72	3	3	761	3	ZNF530	19	58117644	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	49935	58117644	1011339	1120	64082											
ZNF154	7710	broad.mit.edu	37	chr19	58213775	58213775	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcttttctccagtgtgaagtCtccaatggtcattgagactg	10	9	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:58213775C>A	uc010euf.2	-	3	782	c.542G>T	c.(541-543)AGA>ATA	p.R181I	ZNF776_uc002qpx.2_Intron|ZNF154_uc002qpy.2_RNA	NM_001085384	NP_001078853	Q13106	ZN154_HUMAN	zinc finger protein 154	181	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGTGTGAAGTCTCCAATGGTC	0.448													A	58213775	C	A	58213775	3	1	96	1	0	0	0	0	1	0	0	0	17732	913	32	5	775	5	ZNF154	19	58213775	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	96131	58213775	915208	1121	64083											
ZSCAN18	65982	broad.mit.edu	37	chr19	58597553	58597553	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacctcacctgggaggctgcTtccttgtggatctctttcca	9	13	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:58597553T>C	uc002qri.2	-	6	1135	c.826A>G	c.(826-828)AGC>GGC	p.S276G	ZSCAN18_uc002qrj.3_Missense_Mutation_p.S276G|ZSCAN18_uc010yhs.1_Missense_Mutation_p.S141G|ZSCAN18_uc002qrh.2_Missense_Mutation_p.S276G|ZSCAN18_uc010yht.1_Missense_Mutation_p.S332G|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	276					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGAGGCTGCTTCCTTGTGGA	0.587													C	58597553	T	C	58597553	3	2	96	1	0	0	0	0	1	0	0	0	18227	1609	56	3	714	3	ZSCAN18	19	58597553	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	383778	58597553	531430	1122	64084											
TRIM28	10155	broad.mit.edu	37	chr19	59057202	59057202	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgctcggagcctctgtgtgaGacctgtgtagaggcgcacca	14	11	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr19:59057202G>A	uc002qtg.1	+	3	814	c.525G>A	c.(523-525)GAG>GAA	p.E175E	TRIM28_uc010eut.1_Intron|TRIM28_uc002qth.1_5'Flank	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	175	RBCC domain.|B box-type 1; atypical.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CTCTGTGTGAGACCTGTGTAG	0.582													A	59057202	G	A	59057202	2	1	96	1	0	0	0	0	0	0	0	1	16499	933	33	4		4	TRIM28	19	59057202	Silent	SNP	G	TCGA-BR-8589-01A-11D-2394-08	459649	59057202	71781	1123	64085											
ZNF343	79175	broad.mit.edu	37	chr20	2463832	2463832	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcctctggtgtctgatgAgatttgacttatgactaaag	11	6	2	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:2463832A>G	uc002wge.1	-	6	2263	c.1775T>C	c.(1774-1776)CTC>CCC	p.L592P	ZNF343_uc010gao.1_Missense_Mutation_p.L592P|ZNF343_uc002wgd.1_Missense_Mutation_p.L502P	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	592	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						GTGTCTGATGAGATTTGACTT	0.512													G	2463832	A	G	2463832	3	3	96	1	0	0	0	0	1	0	0	0	17855	304	11	3	28	3	ZNF343	20	2463832	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08		2463832	60561688	1124	64086											
C20orf194	25943	broad.mit.edu	37	chr20	3278685	3278685	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgatattacctctgagtaAaatgcttggtatatcttcga	7	7	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:3278685A>C	uc002wii.2	-	22	1971	c.1920T>G	c.(1918-1920)TTT>TTG	p.F640L	C20orf194_uc002wij.3_Missense_Mutation_p.F379L|C20orf194_uc002wik.2_Missense_Mutation_p.F314L	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	640											0						CCTCTGAGTAAAATGCTTGGT	0.383													C	3278685	A	C	3278685	3	2	96	1	0	0	0	0	1	0	0	0	2099	11	1	5	1677	5	C20orf194	20	3278685	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	814853	3278685	59746835	1125	64087											
SIGLEC1	6614	broad.mit.edu	37	chr20	3678698	3678698	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcgctgtccacacggcaCaaaaggaggcctcgccgtcc	13	15	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:3678698C>T	uc002wja.2	-	8	1869	c.1869G>A	c.(1867-1869)TTG>TTA	p.L623L	SIGLEC1_uc002wiz.3_Silent_p.L623L	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	623	Ig-like C2-type 6.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						CCACACGGCACAAAAGGAGGC	0.662													T	3678698	C	T	3678698	2	4	96	1	0	0	0	0	0	0	0	1	14305	477	17	4		4	SIGLEC1	20	3678698	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	400013	3678698	59346822	1126	64088											
PRND	23627	broad.mit.edu	37	chr20	4705711	4705711	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgccttctggctttgatcTggctcacggtgaaataagct	10	10	4	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:4705711T>C	uc002wkz.2	+	2	585	c.514T>C	c.(514-516)TGG>CGG	p.W172R		NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	prion-like protein doppel preproprotein	172					protein homooligomerization	anchored to membrane|plasma membrane					0						GGCTTTGATCTGGCTCACGGT	0.587													C	4705711	T	C	4705711	3	2	96	1	0	0	0	0	1	0	0	0	12543	1580	55	3	516	3	PRND	20	4705711	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1027013	4705711	58319809	1127	64089											
TRMT6	51605	broad.mit.edu	37	chr20	5924813	5924813	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaactacttactttttTttcttctttttaatatattt	0	5	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:5924813T>G	uc002wmh.1	-	4	575	c.453A>C	c.(451-453)AAA>AAC	p.K151N	TRMT6_uc010zra.1_5'UTR|TRMT6_uc010gbn.1_5'UTR|TRMT6_uc010gbo.1_RNA	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6	151					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			pancreas(1)	1						CTTACTTTTTTTTCTTCTTTT	0.204													G	5924813	T	G	5924813	3	3	96	1	0	0	0	0	1	0	0	0	16565	1838	64	5	1072	5	TRMT6	20	5924813	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1219102	5924813	57100707	1128	64090											
SPTLC3	55304	broad.mit.edu	37	chr20	13140768	13140768	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcggcacatacccgggagAtgttagacacggtgagtaca	13	10	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:13140768A>G	uc002wod.1	+	11	1823	c.1534A>G	c.(1534-1536)ATG>GTG	p.M512V		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	512					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)	TACCCGGGAGATGTTAGACAC	0.527													G	13140768	A	G	13140768	3	3	96	1	0	0	0	0	1	0	0	0	15124	333	12	3	1576	3	SPTLC3	20	13140768	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	7215955	13140768	49884752	1129	64091											
PCSK2	5126	broad.mit.edu	37	chr20	17410104	17410104	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggacccgatgtgcaggagaAgtttctgctgccgccaacaa	13	11	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:17410104A>C	uc002wpm.2	+	7	965	c.645A>C	c.(643-645)GAA>GAC	p.E215D	PCSK2_uc002wpl.2_Missense_Mutation_p.E196D|PCSK2_uc010zrm.1_Missense_Mutation_p.E180D	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	215	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTGCAGGAGAAGTTTCTGCTG	0.473													C	17410104	A	C	17410104	3	2	96	1	0	0	0	0	1	0	0	0	11601	69	3	5	671	5	PCSK2	20	17410104	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4269336	17410104	45615416	1130	64092											
RRBP1	6238	broad.mit.edu	37	chr20	17607995	17607995	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttccccagcttaccgAgtctgctgctggtcagcctc	10	16	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:17607995A>G	uc002wpv.1	-	12	2016	c.1662T>C	c.(1660-1662)ACT>ACC	p.T554T	RRBP1_uc002wpu.2_Silent_p.T328T|RRBP1_uc002wpw.1_Silent_p.T554T|RRBP1_uc010gcl.1_Silent_p.T328T|RRBP1_uc010gcm.1_Intron	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	987	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						CAGCTTACCGAGTCTGCTGCT	0.632													G	17607995	A	G	17607995	2	3	96	1	0	0	0	0	0	0	0	1	13678	291	11	3		3	RRBP1	20	17607995	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	197891	17607995	45417525	1131	64093											
SEC23B	10483	broad.mit.edu	37	chr20	18492909	18492909	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactttgggcctgtaatttcTgttttcaaagaaatcaggta	8	6	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:18492909T>C	uc002wqz.1	+	3	705	c.262T>C	c.(262-264)TGT>CGT	p.C88R	SEC23B_uc002wra.1_Missense_Mutation_p.C88R|SEC23B_uc002wrb.1_Missense_Mutation_p.C88R|SEC23B_uc010zsb.1_Missense_Mutation_p.C88R|SEC23B_uc002wrc.1_Missense_Mutation_p.C88R	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B	88					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1						CTGTAATTTCTGTTTTCAAAG	0.204													C	18492909	T	C	18492909	3	2	96	1	0	0	0	0	1	0	0	0	13992	1580	55	3	268	3	SEC23B	20	18492909	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	884914	18492909	44532611	1132	64094											
C20orf79	140856	broad.mit.edu	37	chr20	18794785	18794785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagcagacactgtctttaCaatcccggagtctgtcttta	7	13	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:18794785C>T	uc002wrk.2	+	1	416	c.326C>T	c.(325-327)ACA>ATA	p.T109I	uc002wrj.1_Intron	NM_178483	NP_848578	Q9UJQ7	CT079_HUMAN	hypothetical protein LOC140856	109	SCP2.						sterol binding			skin(3)	3						ACTGTCTTTACAATCCCGGAG	0.498													T	18794785	C	T	18794785	3	4	96	1	0	0	0	0	1	0	0	0	2119	478	17	4	328	4	C20orf79	20	18794785	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	301876	18794785	44230735	1133	64095											
CRNKL1	51340	broad.mit.edu	37	chr20	20028462	20028462	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtatctcagctcaaagTtgatgtaggagtgccaggct	11	8	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:20028462T>G	uc002wrs.2	-	6	1084	c.1052A>C	c.(1051-1053)AAC>ACC	p.N351T	CRNKL1_uc002wrt.1_Missense_Mutation_p.N339T	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	351	HAT 4.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3						CAGCTCAAAGTTGATGTAGGA	0.532													G	20028462	T	G	20028462	3	3	96	1	0	0	0	0	1	0	0	0	3891	1725	60	5	1534	5	CRNKL1	20	20028462	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1233677	20028462	42997058	1134	64096											
RALGAPA2	57186	broad.mit.edu	37	chr20	20527423	20527423	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcattgagaagccaggaaaAcccagggagaaaaagcgggg	15	7	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:20527423A>C	uc002wrz.2	-	24	3353	c.3210T>G	c.(3208-3210)GGT>GGG	p.G1070G	RALGAPA2_uc010gcx.2_Silent_p.G774G|RALGAPA2_uc010zsg.1_Silent_p.G518G	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1070					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						AGCCAGGAAAACCCAGGGAGA	0.463													C	20527423	A	C	20527423	2	2	96	1	0	0	0	0	0	0	0	1	13014	30	2	5		5	RALGAPA2	20	20527423	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	498961	20527423	42498097	1135	64097											
XRN2	22803	broad.mit.edu	37	chr20	21314715	21314715	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catatattttatcacttacaGggttaccttacagaaagtgg	7	7	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:21314715G>A	uc002wsf.1	+	13	1221	c.1126_splice	c.e13-1	p.G376_splice	XRN2_uc002wsg.1_Splice_Site_p.G300_splice|XRN2_uc010zsk.1_Splice_Site_p.G322_splice	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2						cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1						ATCACTTACAGGGTTACCTTA	0.328													A	21314715	G	A	21314715	5	1	96	1	0	0	0	0	0	0	1	0	17457	1014	35	4	1175	4	XRN2	20	21314715	Splice_Site	SNP	G	TCGA-BR-8589-01A-11D-2394-08	787292	21314715	41710805	1136	64098											
ACSS1	84532	broad.mit.edu	37	chr20	24989958	24989958	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttggtggccaccatggacTtgagctcctgcaccaccaca	9	15	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:24989958T>A	uc002wub.2	-	13	2716	c.1838A>T	c.(1837-1839)AAG>ATG	p.K613M	ACSS1_uc002wuc.2_Missense_Mutation_p.K611M|ACSS1_uc010gdc.2_Missense_Mutation_p.K408M|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Missense_Mutation_p.K530M	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	613					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACCATGGACTTGAGCTCCTG	0.512													A	24989958	T	A	24989958	3	1	96	1	0	0	0	0	1	0	0	0	188	1609	56	5	239	5	ACSS1	20	24989958	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3675243	24989958	38035562	1137	64099											
NINL	22981	broad.mit.edu	37	chr20	25478915	25478915	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcactgtccactgtcatgAgctcgttgtcaagggcccag	12	13	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:25478915A>G	uc002wux.1	-	9	1174	c.1100T>C	c.(1099-1101)CTC>CCC	p.L367P	NINL_uc010gdn.1_Missense_Mutation_p.L367P|NINL_uc010gdo.1_Missense_Mutation_p.L150P|NINL_uc010ztf.1_Missense_Mutation_p.L383P	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	367					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						CACTGTCATGAGCTCGTTGTC	0.617													G	25478915	A	G	25478915	3	3	96	1	0	0	0	0	1	0	0	0	10420	304	11	3	3112	3	NINL	20	25478915	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	488957	25478915	37546605	1138	64100											
NINL	22981	broad.mit.edu	37	chr20	25478973	25478973	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caccttctcgtccacgctgaAgtccaggctctggaagcagc	10	15	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:25478973A>T	uc002wux.1	-	9	1116	c.1042T>A	c.(1042-1044)TTC>ATC	p.F348I	NINL_uc010gdn.1_Missense_Mutation_p.F348I|NINL_uc010gdo.1_Missense_Mutation_p.F131I|NINL_uc010ztf.1_Missense_Mutation_p.F364I	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	348					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						TCCACGCTGAAGTCCAGGCTC	0.617													T	25478973	A	T	25478973	3	4	96	1	0	0	0	0	1	0	0	0	10420	72	3	5	3170	5	NINL	20	25478973	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	58	25478973	37546547	1139	64101											
DEFB124	245937	broad.mit.edu	37	chr20	30053417	30053417	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttcttgccttgtgcagtaAgtttggcaggccccttgacc	11	11	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:30053417A>C	uc002wvz.1	-	2	108	c.108T>G	c.(106-108)ACT>ACG	p.T36T		NM_001037500	NP_001032589	Q8NES8	DB124_HUMAN	beta-defensin 124 precursor	36					defense response to bacterium	extracellular region					0	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTGTGCAGTAAGTTTGGCAGG	0.527													C	30053417	A	C	30053417	2	2	96	1	0	0	0	0	0	0	0	1	4410	59	3	5		5	DEFB124	20	30053417	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4574444	30053417	32972103	1140	64102											
ASXL1	171023	broad.mit.edu	37	chr20	31022897	31022897	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtgagtctggcaccacTtcctgggaaagtgatgatga	13	7	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:31022897T>G	uc002wxs.2	+	12	2808	c.2382T>G	c.(2380-2382)ACT>ACG	p.T794T	ASXL1_uc010geb.2_Silent_p.T685T	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	794					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						CTGGCACCACTTCCTGGGAAA	0.507			F|N|Mis		MDS|CMML								G	31022897	T	G	31022897	2	3	96	1	0	0	0	0	0	0	0	1	1066	1596	56	5		5	ASXL1	20	31022897	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	969480	31022897	32002623	1141	64103											
BPIL3	128859	broad.mit.edu	37	chr20	31627238	31627238	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcactatgaagacaggcaAgagcctgctgcacctccaca	10	13	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:31627238A>G	uc010zuc.1	+	10	986	c.986A>G	c.(985-987)AAG>AGG	p.K329R	BPIL3_uc010zud.1_Missense_Mutation_p.K268R	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	bactericidal/permeability-increasing	329						extracellular region	lipid binding			ovary(1)|pancreas(1)	2						AAGACAGGCAAGAGCCTGCTG	0.532													G	31627238	A	G	31627238	3	3	96	1	0	0	0	0	1	0	0	0	1493	72	3	3	1024	3	BPIL3	20	31627238	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	604341	31627238	31398282	1142	64104											
C20orf186	149954	broad.mit.edu	37	chr20	31671658	31671658	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggcgagggtggcatcctcAgcactgtgcaaggcatcacg	14	12	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:31671658A>C	uc010zue.1	+	3	670	c.655A>C	c.(655-657)AGC>CGC	p.S219R		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	219	Gly-rich.					cytoplasm|extracellular region	lipid binding				0						TGGCATCCTCAGCACTGTGCA	0.632													C	31671658	A	C	31671658	3	2	96	1	0	0	0	0	1	0	0	0	2098	188	7	5	665	5	C20orf186	20	31671658	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	44420	31671658	31353862	1143	64105											
PLUNC	51297	broad.mit.edu	37	chr20	31825526	31825526	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaagagcaaagatgtttcaAactgggggcctcattgtctt	10	8	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:31825526A>C	uc002wyv.2	+	2	79	c.9A>C	c.(7-9)CAA>CAC	p.Q3H	PLUNC_uc002wyt.3_Missense_Mutation_p.Q3H|PLUNC_uc002wyu.3_Missense_Mutation_p.Q3H	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	palate, lung and nasal epithelium associated	3					innate immune response	extracellular region	lipid binding				0						AGATGTTTCAAACTGGGGGCC	0.547													C	31825526	A	C	31825526	3	2	96	1	0	0	0	0	1	0	0	0	12115	11	1	5	11	5	PLUNC	20	31825526	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	153868	31825526	31199994	1144	64106											
PLUNC	51297	broad.mit.edu	37	chr20	31829261	31829261	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaataaagtcctgcctgagTtggttcagggcaacgtaagt	12	7	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:31829261T>G	uc002wyv.2	+	6	722	c.652T>G	c.(652-654)TTG>GTG	p.L218V	PLUNC_uc002wyt.3_Missense_Mutation_p.L218V|PLUNC_uc002wyu.3_Missense_Mutation_p.L218V	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	palate, lung and nasal epithelium associated	218					innate immune response	extracellular region	lipid binding				0						CCTGCCTGAGTTGGTTCAGGG	0.517													G	31829261	T	G	31829261	3	3	96	1	0	0	0	0	1	0	0	0	12115	1722	60	5	670	5	PLUNC	20	31829261	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3735	31829261	31196259	1145	64107											
MMP24	10893	broad.mit.edu	37	chr20	33859460	33859460	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctgtttgccccgtgaAggcattgacacagctctgcg	13	12	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:33859460A>C	uc002xbu.2	+	8	1425	c.1422A>C	c.(1420-1422)GAA>GAC	p.E474D	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	matrix metalloproteinase 24 preproprotein	474	Extracellular (Potential).				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TGCCCCGTGAAGGCATTGACA	0.617													C	33859460	A	C	33859460	3	2	96	1	0	0	0	0	1	0	0	0	9661	69	3	5	1202	5	MMP24	20	33859460	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2030199	33859460	29166060	1146	64108											
KIAA0406	9675	broad.mit.edu	37	chr20	36625208	36625208	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagacagccagctgcaactTgaaggccagcgtgtgcgagt	13	10	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:36625208T>C	uc002xhl.2	-	7	3150	c.2941A>G	c.(2941-2943)AAG>GAG	p.K981E	KIAA0406_uc002xhm.2_Missense_Mutation_p.K981E	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	981							binding				0		Myeloproliferative disorder(115;0.00874)				AGCTGCAACTTGAAGGCCAGC	0.592													C	36625208	T	C	36625208	3	2	96	1	0	0	0	0	1	0	0	0	8173	1821	63	3	340	3	KIAA0406	20	36625208	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2765748	36625208	26400312	1147	64109											
KIAA1755	85449	broad.mit.edu	37	chr20	36848101	36848101	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccccaggaggctgttggaAgcggtgaccagaacatgaag	14	9	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:36848101A>C	uc002xhy.1	-	11	2759	c.2487T>G	c.(2485-2487)GCT>GCG	p.A829A	KIAA1755_uc002xhv.1_5'Flank|KIAA1755_uc002xhw.1_5'Flank|KIAA1755_uc002xhx.1_Silent_p.A107A	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	829										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)				GGCTGTTGGAAGCGGTGACCA	0.632													C	36848101	A	C	36848101	2	2	96	1	0	0	0	0	0	0	0	1	8257	59	3	5		5	KIAA1755	20	36848101	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	222893	36848101	26177419	1148	64110											
BPI	671	broad.mit.edu	37	chr20	36936031	36936031	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggatcaagattcctgactacTcagacagctttaagatcaag	8	9	3	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:36936031T>A	uc002xib.2	+	2	267	c.205T>A	c.(205-207)TCA>ACA	p.S69T		NM_001725	NP_001716	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	69					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			ovary(4)	4		Myeloproliferative disorder(115;0.00878)				TCCTGACTACTCAGACAGCTT	0.527													A	36936031	T	A	36936031	3	1	96	1	0	0	0	0	1	0	0	0	1490	1551	54	5	211	5	BPI	20	36936031	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	87930	36936031	26089489	1149	64111											
PPP1R16B	26051	broad.mit.edu	37	chr20	37464672	37464672	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgggcccagcagctgaAgaaatgggcacagtacgagc	15	12	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:37464672A>C	uc002xje.2	+	2	293	c.104A>C	c.(103-105)AAG>ACG	p.K35T	PPP1R16B_uc010ggc.2_Missense_Mutation_p.K35T	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	35	Potential.				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				CAGCAGCTGAAGAAATGGGCA	0.667													C	37464672	A	C	37464672	3	2	96	1	0	0	0	0	1	0	0	0	12366	72	3	5	106	5	PPP1R16B	20	37464672	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	528641	37464672	25560848	1150	64112											
MAFB	9935	broad.mit.edu	37	chr20	39316595	39316595	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccggagttggcgagtttcTcgcacttgaccttgtaggcg	14	10	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:39316595T>C	uc002xji.2	-	1	1282	c.896A>G	c.(895-897)GAG>GGG	p.E299G		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	transcription factor MAFB	299					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		Myeloproliferative disorder(115;0.00878)				GGCGAGTTTCTCGCACTTGAC	0.562			T	IGH@	MM								C	39316595	T	C	39316595	3	2	96	1	0	0	0	0	1	0	0	0	9158	1551	54	3	79	3	MAFB	20	39316595	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1851923	39316595	23708925	1151	64113											
L3MBTL	26013	broad.mit.edu	37	chr20	42161533	42161533	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagccgcttcctggtgcacTttgacaactgggatgatact	10	11	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:42161533T>G	uc010zwh.1	+	12	1385	c.1339T>G	c.(1339-1341)TTT>GTT	p.F447V	L3MBTL_uc002xkl.2_Missense_Mutation_p.F379V|L3MBTL_uc002xkm.2_Missense_Mutation_p.F379V|L3MBTL_uc010ggl.2_Missense_Mutation_p.F379V|L3MBTL_uc002xkn.1_Missense_Mutation_p.F138V|L3MBTL_uc002xko.2_Missense_Mutation_p.F31V	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	379	MBT 2.|Interaction with monomethylated and dimethylated peptides.			F->A: Abolishes binding to monomethylated and dimethylated peptides. Abolishes binding to p53/TP53 monomethylated at 'Lys-382'.	chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCTGGTGCACTTTGACAACTG	0.582													G	42161533	T	G	42161533	3	3	96	1	0	0	0	0	1	0	0	0	8591	1609	56	5	1169	5	L3MBTL	20	42161533	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2844938	42161533	20863987	1152	64114											
KCNS1	3787	broad.mit.edu	37	chr20	43726484	43726484	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagggcagcacagacacaAtgtcgatgaggttgagcggg	16	7	0	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:43726484A>C	uc002xnc.2	-	4	1326	c.929T>G	c.(928-930)ATT>AGT	p.I310S	KCNS1_uc002xnd.2_Missense_Mutation_p.I310S	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	310	Helical; Name=Segment S3; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)				CACAGACACAATGTCGATGAG	0.627													C	43726484	A	C	43726484	3	2	96	1	0	0	0	0	1	0	0	0	8088	101	4	5	659	5	KCNS1	20	43726484	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1564951	43726484	19299036	1153	64115											
SEMG2	6407	broad.mit.edu	37	chr20	43851860	43851860	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaaggaaagtctggtcaAtctgcagatagcaaacaaga	10	7	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:43851860A>C	uc010ggz.2	+	2	1644	c.1587A>C	c.(1585-1587)CAA>CAC	p.Q529H	SEMG2_uc002xnk.2_Missense_Mutation_p.Q529H|SEMG2_uc002xnl.2_Missense_Mutation_p.Q409H	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	529	Repeat-rich region.|3-2.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				AGTCTGGTCAATCTGCAGATA	0.393													C	43851860	A	C	43851860	3	2	96	1	0	0	0	0	1	0	0	0	14045	98	4	5	1593	5	SEMG2	20	43851860	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	125376	43851860	19173660	1154	64116											
NEURL2	140825	broad.mit.edu	37	chr20	44519175	44519175	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcggtcccggggaatgcgAaactgctcaatgcgcagata	14	10	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:44519175A>C	uc002xqg.1	-	1	727	c.456T>G	c.(454-456)TTT>TTG	p.F152L	C20orf165_uc002xqf.2_5'Flank|CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN	neuralized-like protein 2	152	NHR.				intracellular signal transduction						0		Myeloproliferative disorder(115;0.0122)				GGGGAATGCGAAACTGCTCAA	0.692													C	44519175	A	C	44519175	3	2	96	1	0	0	0	0	1	0	0	0	10346	243	9	5	409	5	NEURL2	20	44519175	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	667315	44519175	18506345	1155	64117											
PLTP	5360	broad.mit.edu	37	chr20	44527644	44527644	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcagcaggccggttcttcTcaatcacctctcgcagccct	7	17	5	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:44527644T>C	uc002xqn.1	-	16	1498	c.1418A>G	c.(1417-1419)GAG>GGG	p.E473G	PLTP_uc002xql.1_Missense_Mutation_p.E385G|PLTP_uc002xqm.1_Missense_Mutation_p.E493G|PLTP_uc002xqo.1_Missense_Mutation_p.E421G|PLTP_uc002xqp.1_Missense_Mutation_p.E468G|PLTP_uc002xqq.1_Missense_Mutation_p.E442G|PLTP_uc010zxj.1_Missense_Mutation_p.E378G|PLTP_uc010ghj.1_Missense_Mutation_p.E426G	NM_006227	NP_006218	P55058	PLTP_HUMAN	phospholipid transfer protein isoform a	473					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CCGGTTCTTCTCAATCACCTC	0.567													C	44527644	T	C	44527644	3	2	96	1	0	0	0	0	1	0	0	0	12114	1551	54	3	67	3	PLTP	20	44527644	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	8469	44527644	18497876	1156	64118											
CDH22	64405	broad.mit.edu	37	chr20	44815501	44815501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgcatacagctgcctcGtagggtgtggccagttctgg	13	12	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:44815501G>A	uc002xrm.2	-	8	1910	c.1509C>T	c.(1507-1509)TAC>TAT	p.Y503Y	CDH22_uc010ghk.1_Silent_p.Y503Y	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	503	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CAGCTGCCTCGTAGGGTGTGG	0.592													A	44815501	G	A	44815501	2	1	96	1	0	0	0	0	0	0	0	1	3107	1140	40	1		1	CDH22	20	44815501	Silent	SNP	G	TCGA-BR-8589-01A-11D-2394-08	287857	44815501	18210019	1157	64119											
PARD6B	84612	broad.mit.edu	37	chr20	49366531	49366531	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctcaaagtacaggactaTtagctgttaatgatgaagtt	10	5	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:49366531T>G	uc002xvo.2	+	3	868	c.625T>G	c.(625-627)TTA>GTA	p.L209V		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	PAR-6 beta	209	PDZ.|Interaction with PARD3 and CDC42 (By similarity).				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			kidney(1)	1						TACAGGACTATTAGCTGTTAA	0.433													G	49366531	T	G	49366531	3	3	96	1	0	0	0	0	1	0	0	0	11446	1490	52	5	635	5	PARD6B	20	49366531	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4551030	49366531	13658989	1158	64120											
KCNG1	3755	broad.mit.edu	37	chr20	49621273	49621273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatgagccgcaggaggaacTccagggagaaccagcccacg	14	12	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:49621273T>C	uc002xwa.3	-	3	1140	c.845A>G	c.(844-846)GAG>GGG	p.E282G		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	282	Helical; Name=Segment S2; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						CAGGAGGAACTCCAGGGAGAA	0.642													C	49621273	T	C	49621273	3	2	96	1	0	0	0	0	1	0	0	0	8027	1551	54	3	700	3	KCNG1	20	49621273	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	254742	49621273	13404247	1159	64121											
SALL4	57167	broad.mit.edu	37	chr20	50407880	50407880	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacagtacttacacttgtgcTtgtagagggccgcctcgtct	10	11	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:50407880T>G	uc002xwh.3	-	2	1243	c.1142A>C	c.(1141-1143)AAG>ACG	p.K381T	SALL4_uc010gii.2_Missense_Mutation_p.K381T|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	381					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						ACACTTGTGCTTGTAGAGGGC	0.547													G	50407880	T	G	50407880	3	3	96	1	0	0	0	0	1	0	0	0	13813	1609	56	5	2031	5	SALL4	20	50407880	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	786607	50407880	12617640	1160	64122											
ZNF217	7764	broad.mit.edu	37	chr20	52193563	52193563	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaacattctgaaaaacagaAggcatctccttaagctgctt	7	9	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:52193563A>C	uc002xwq.3	-	3	2011	c.1740T>G	c.(1738-1740)CCT>CCG	p.P580P	ZNF217_uc010gij.1_Silent_p.P572P	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	580					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GAAAAACAGAAGGCATCTCCT	0.438													C	52193563	A	C	52193563	2	2	96	1	0	0	0	0	0	0	0	1	17769	59	3	5		5	ZNF217	20	52193563	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1785683	52193563	10831957	1161	64123											
ZNF217	7764	broad.mit.edu	37	chr20	52199470	52199470	+	Translation_Start_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggttccaaaaaccagagcaAatatttattataaaagttca	6	6	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:52199470A>C	uc002xwq.3	-	1	167	c.-104T>G	c.(-106--102)ATTTG>ATGTG		ZNF217_uc010gij.1_Translation_Start_Site	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217						negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			AACCAGAGCAAATATTTATTA	0.403													C	52199470	A	C	52199470	1	2	96	1	0	0	0	0	0	0	0	0	17769	29	1	5		5	ZNF217	20	52199470	Translation_Start_Site	SNP	A	TCGA-BR-8589-01A-11D-2394-08	5907	52199470	10826050	1162	64124											
C20orf43	51507	broad.mit.edu	37	chr20	55093316	55093316	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacccacacgtcctactgcTtctgaagcccgcactgccac	6	19	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:55093316T>G	uc002xxt.2	+	9	1023	c.916T>G	c.(916-918)TTC>GTC	p.F306V	C20orf43_uc010zzf.1_Missense_Mutation_p.F336V|C20orf43_uc002xxu.2_Missense_Mutation_p.F305V|C20orf43_uc002xxv.2_3'UTR|GCNT7_uc010zzg.1_Intron	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	hypothetical protein LOC51507	306										ovary(1)	1			Colorectal(105;0.202)			GTCCTACTGCTTCTGAAGCCC	0.582													G	55093316	T	G	55093316	3	3	96	1	0	0	0	0	1	0	0	0	2112	1609	56	5	950	5	C20orf43	20	55093316	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2893846	55093316	7932204	1163	64125											
BMP7	655	broad.mit.edu	37	chr20	55758840	55758840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttggagcggttctggctgCgctgtttgctccccgtggac	14	12	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:55758840C>T	uc010gip.1	-	4	1425	c.896G>A	c.(895-897)CGC>CAC	p.R299H	BMP7_uc010giq.1_Intron|BMP7_uc002xyc.2_Missense_Mutation_p.R299H	NM_001719	NP_001710	P18075	BMP7_HUMAN	bone morphogenetic protein 7 precursor	299					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			skin(1)	1	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GTTCTGGCTGCGCTGTTTGCT	0.637													T	55758840	C	T	55758840	3	4	96	1	0	0	0	0	1	0	0	0	1465	768	27	1	415	1	BMP7	20	55758840	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	665524	55758840	7266680	1164	64126											
RAE1	8480	broad.mit.edu	37	chr20	55948568	55948568	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaagacaaacagaacaAgcctactggttttgccctgg	8	9	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:55948568A>C	uc002xyg.2	+	9	1021	c.680A>C	c.(679-681)AAG>ACG	p.K227T	RAE1_uc010gis.1_Missense_Mutation_p.K180T|RAE1_uc010git.1_Missense_Mutation_p.K227T|RAE1_uc002xyh.2_Missense_Mutation_p.K227T|RAE1_uc002xyi.2_Missense_Mutation_p.K227T	NM_003610	NP_003601	P78406	RAE1L_HUMAN	RAE1 (RNA export 1, S.pombe) homolog	227					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding				0	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			AAACAGAACAAGCCTACTGGT	0.408													C	55948568	A	C	55948568	3	2	96	1	0	0	0	0	1	0	0	0	12998	72	3	5	710	5	RAE1	20	55948568	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	189728	55948568	7076952	1165	64127											
APCDD1L	164284	broad.mit.edu	37	chr20	57036043	57036043	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctctggggtatcgggacTtgagccatcggtgggccttt	14	9	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:57036043T>C	uc002xze.1	-	4	1495	c.1309A>G	c.(1309-1311)AGT>GGT	p.S437G	APCDD1L_uc010zzp.1_Missense_Mutation_p.S448G	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated	437						integral to membrane				ovary(1)	1	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GTATCGGGACTTGAGCCATCG	0.617													C	57036043	T	C	57036043	3	2	96	1	0	0	0	0	1	0	0	0	766	1609	56	3	200	3	APCDD1L	20	57036043	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1087475	57036043	5989477	1166	64128											
LAMA5	3911	broad.mit.edu	37	chr20	60913663	60913663	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgccgcgctgcagtcacaAtctggagggtggggacaggc	16	12	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:60913663A>C	uc002ycq.2	-	12	1546	c.1479T>G	c.(1477-1479)AAT>AAG	p.N493K		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	493					angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCAGTCACAATCTGGAGGGT	0.607													C	60913663	A	C	60913663	3	2	96	1	0	0	0	0	1	0	0	0	8609	115	4	5	9884	5	LAMA5	20	60913663	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3877620	60913663	2111857	1167	64129											
C20orf11	54994	broad.mit.edu	37	chr20	61576119	61576119	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagttaaccaagctgtgcTagattatgaaaatcgcgagt	10	6	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:61576119T>G	uc002ydy.2	+	5	719	c.542T>G	c.(541-543)CTA>CGA	p.L181R		NM_017896	NP_060366	Q9NWU2	CT011_HUMAN	chromosome 20 open reading frame 11	181						nucleus	protein binding				0	Breast(26;5.68e-08)					CAAGCTGTGCTAGATTATGAA	0.408													G	61576119	T	G	61576119	3	3	96	1	0	0	0	0	1	0	0	0	2079	1522	53	5	556	5	C20orf11	20	61576119	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	662456	61576119	1449401	1168	64130											
COL20A1	57642	broad.mit.edu	37	chr20	61938879	61938879	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgccccccgtgcctgcTgacatggtcttcctggtgga	12	15	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr20:61938879T>C	uc011aau.1	+	6	634	c.534T>C	c.(532-534)GCT>GCC	p.A178A	COL20A1_uc011aav.1_5'UTR	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	178					cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					CCGTGCCTGCTGACATGGTCT	0.652													C	61938879	T	C	61938879	2	2	96	1	0	0	0	0	0	0	0	1	3679	1567	55	3		3	COL20A1	20	61938879	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	362760	61938879	1086641	1169	64131											
TPTE	7179	broad.mit.edu	37	chr21	10944689	10944689	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggaatattcctaagcaacTtaatgtcaaaaaaaatgtaa	6	5	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr21:10944689T>G	uc002yip.1	-	11	913	c.545A>C	c.(544-546)AAG>ACG	p.K182T	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.K164T|TPTE_uc002yir.1_Missense_Mutation_p.K144T|TPTE_uc010gkv.1_Missense_Mutation_p.K44T	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	182	Helical; (Potential).				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTAAGCAACTTAATGTCAAA	0.299													G	10944689	T	G	10944689	3	3	96	1	0	0	0	0	1	0	0	0	16427	1609	56	5	1166	5	TPTE	21	10944689	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08		10944689	37185206	1170	64132											
NRIP1	8204	broad.mit.edu	37	chr21	16337791	16337791	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccagcaggatatttaaatTcaagatcatttctgctaaat	6	7	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr21:16337791T>C	uc002yjx.2	-	4	3321	c.2723A>G	c.(2722-2724)GAA>GGA	p.E908G		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	908					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ATATTTAAATTCAAGATCATT	0.438													C	16337791	T	C	16337791	3	2	96	1	0	0	0	0	1	0	0	0	10652	1783	62	3	757	3	NRIP1	21	16337791	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	5393102	16337791	31792104	1171	64133											
GRIK1	2897	broad.mit.edu	37	chr21	31023581	31023581	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgtttacgccactgtaccTatagagttccagatccaaag	7	11	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr21:31023581T>C	uc002yno.1	-	6	1275	c.811A>G	c.(811-813)AGG>GGG	p.R271G	GRIK1_uc002ynn.2_Missense_Mutation_p.R271G|GRIK1_uc011acs.1_Missense_Mutation_p.R271G|GRIK1_uc011act.1_Missense_Mutation_p.R215G|GRIK1_uc010glq.1_Missense_Mutation_p.R129G|GRIK1_uc002ynr.2_Missense_Mutation_p.R271G	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	271	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CCACTGTACCTATAGAGTTCC	0.388													C	31023581	T	C	31023581	3	2	96	1	0	0	0	0	1	0	0	0	6773	1521	53	3	2153	3	GRIK1	21	31023581	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	14685790	31023581	17106314	1172	64134											
KRTAP19-8	728299	broad.mit.edu	37	chr21	32410734	32410734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccatagccatagcccaggCctccataatagcttctgtag	7	14	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr21:32410734C>T	uc010glt.2	-	1	62	c.29G>A	c.(28-30)GGC>GAC	p.G10D		NM_001099219	NP_001092689	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	10						intermediate filament				upper_aerodigestive_tract(1)	1						ATAGCCCAGGCCTCCATAATA	0.547													T	32410734	C	T	32410734	3	4	96	1	0	0	0	0	1	0	0	0	8535	739	26	2	166	2	KRTAP19-8	21	32410734	Missense_Mutation	SNP	C	TCGA-BR-8589-01A-11D-2394-08	1387153	32410734	15719161	1173	64135											
LCA5L	150082	broad.mit.edu	37	chr21	40777883	40777883	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accacagttactttagagtcTccgaaagcatggctggtgga	11	9	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr21:40777883T>C	uc002yxu.2	-	10	2251	c.1938A>G	c.(1936-1938)GGA>GGG	p.G646G	LCA5L_uc002yxv.2_Silent_p.G646G	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	646											0		Prostate(19;1.2e-06)				CTTTAGAGTCTCCGAAAGCAT	0.418													C	40777883	T	C	40777883	2	2	96	1	0	0	0	0	0	0	0	1	8657	1538	54	3		3	LCA5L	21	40777883	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	8367149	40777883	7352012	1174	64136											
LCA5L	150082	broad.mit.edu	37	chr21	40778399	40778399	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctttcaggatgaataacTtcaattatttttggtggtag	8	5	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr21:40778399T>G	uc002yxu.2	-	10	1735	c.1422A>C	c.(1420-1422)GAA>GAC	p.E474D	LCA5L_uc002yxv.2_Missense_Mutation_p.E474D	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	474											0		Prostate(19;1.2e-06)				GATGAATAACTTCAATTATTT	0.343													G	40778399	T	G	40778399	3	3	96	1	0	0	0	0	1	0	0	0	8657	1606	56	5	594	5	LCA5L	21	40778399	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	516	40778399	7351496	1175	64137											
PDE9A	5152	broad.mit.edu	37	chr21	44151886	44151886	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgctttttatagctggtgTcgaggacaagagaaccacaa	10	9	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr21:44151886T>G	uc002zbm.2	+	5	332	c.269T>G	c.(268-270)GTC>GGC	p.V90G	PDE9A_uc002zbn.2_Intron|PDE9A_uc002zbo.2_Intron|PDE9A_uc002zbp.2_5'UTR|PDE9A_uc002zbq.2_Intron|PDE9A_uc002zbs.2_Intron|PDE9A_uc002zbr.2_Intron|PDE9A_uc002zbt.2_Intron|PDE9A_uc002zbu.2_Intron|PDE9A_uc002zbv.2_Intron|PDE9A_uc002zbw.2_Intron|PDE9A_uc002zbx.2_Intron|PDE9A_uc002zby.2_Intron|PDE9A_uc002zbz.2_Intron|PDE9A_uc002zca.2_Missense_Mutation_p.V49G|PDE9A_uc002zcb.2_Missense_Mutation_p.V64G|PDE9A_uc002zcc.2_Intron|PDE9A_uc002zcd.2_Intron|PDE9A_uc002zce.2_Missense_Mutation_p.V23G|PDE9A_uc002zcf.2_5'UTR|PDE9A_uc002zcg.2_Intron|PDE9A_uc002zch.2_5'UTR	NM_002606	NP_002597	O76083	PDE9A_HUMAN	phosphodiesterase 9A isoform a	90					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|skin(1)	2						ATAGCTGGTGTCGAGGACAAG	0.532													G	44151886	T	G	44151886	3	3	96	1	0	0	0	0	1	0	0	0	11655	1667	58	5	367	5	PDE9A	21	44151886	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3373487	44151886	3978009	1176	64138											
TRAPPC10	7109	broad.mit.edu	37	chr21	45499968	45499968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgcaagcacttctgccaGgagatacttgactttgccag	11	11	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr21:45499968G>A	uc002zea.2	+	13	1852	c.1683G>A	c.(1681-1683)CAG>CAA	p.Q561Q	TRAPPC10_uc010gpo.2_Silent_p.Q272Q|TRAPPC10_uc011afa.1_5'Flank	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	561					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						ACTTCTGCCAGGAGATACTTG	0.502													A	45499968	G	A	45499968	2	1	96	1	0	0	0	0	0	0	0	1	16454	991	35	4		4	TRAPPC10	21	45499968	Silent	SNP	G	TCGA-BR-8589-01A-11D-2394-08	1348082	45499968	2629927	1177	64139											
TRPM2	7226	broad.mit.edu	37	chr21	45837923	45837923	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgccccccttcatcctccTcagccacctgcagctcttca	5	22	4	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr21:45837923T>G	uc002zet.1	+	22	3473	c.3260T>G	c.(3259-3261)CTC>CGC	p.L1087R	TRPM2_uc002zeu.1_Missense_Mutation_p.L1087R|TRPM2_uc002zew.1_Missense_Mutation_p.L1087R|TRPM2_uc010gpt.1_Missense_Mutation_p.L1087R|TRPM2_uc002zex.1_Missense_Mutation_p.L873R|TRPM2_uc002zey.1_Missense_Mutation_p.L600R|uc011afe.1_Intron	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	1087	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TTCATCCTCCTCAGCCACCTG	0.502													G	45837923	T	G	45837923	3	3	96	1	0	0	0	0	1	0	0	0	16583	1551	54	5	3342	5	TRPM2	21	45837923	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	337955	45837923	2291972	1178	64140											
PCNT	5116	broad.mit.edu	37	chr21	47810619	47810619	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaattcattctcgttttgAaaaagaatttagttttaaga	5	5	2	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr21:47810619A>C	uc002zji.3	+	20	3982	c.3875A>C	c.(3874-3876)GAA>GCA	p.E1292A	PCNT_uc002zjj.2_Missense_Mutation_p.E1174A	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1292					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					TCTCGTTTTGAAAAAGAATTT	0.418													C	47810619	A	C	47810619	3	2	96	1	0	0	0	0	1	0	0	0	11590	246	9	5	3953	5	PCNT	21	47810619	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1972696	47810619	319276	1179	64141											
POTEH	23784	broad.mit.edu	37	chr22	16287707	16287707	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcaccacttgcccatcTtgctcctgagtgtcttcata	8	14	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr22:16287707T>G	uc010gqp.2	-	1	231	c.179A>C	c.(178-180)AAG>ACG	p.K60T	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	60										skin(1)	1						CTTGCCCATCTTGCTCCTGAG	0.602													G	16287707	T	G	16287707	3	3	96	1	0	0	0	0	1	0	0	0	12267	1609	56	5	1498	5	POTEH	22	16287707	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08		16287707	35016859	1180	64142											
CECR2	27443	broad.mit.edu	37	chr22	18028887	18028887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagacctggacaaccataacGcagctaccaagcggcagagc	10	13	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr22:18028887G>A	uc010gqw.1	+	16	3970	c.3844G>A	c.(3844-3846)GCA>ACA	p.A1282T	CECR2_uc010gqv.1_Missense_Mutation_p.A1140T|CECR2_uc002zml.2_Missense_Mutation_p.A1141T|CECR2_uc002zmo.2_RNA	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1324					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		CAACCATAACGCAGCTACCAA	0.502													A	18028887	G	A	18028887	3	1	96	1	0	0	0	0	1	0	0	0	3206	1087	38	1	3908	1	CECR2	22	18028887	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	1741180	18028887	33275679	1181	64143											
HIRA	7290	broad.mit.edu	37	chr22	19363240	19363240	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaccgggagtcaaacgcTttcatgggttcgatcttgga	13	8	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr22:19363240T>C	uc002zpf.1	-	15	1909	c.1689A>G	c.(1687-1689)AAA>AAG	p.K563K	HIRA_uc011agx.1_Silent_p.K429K|HIRA_uc010grn.1_Silent_p.K563K|HIRA_uc010gro.1_Silent_p.K519K|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	563	Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					AGTCAAACGCTTTCATGGGTT	0.552													C	19363240	T	C	19363240	2	2	96	1	0	0	0	0	0	0	0	1	7120	1606	56	3		3	HIRA	22	19363240	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1334353	19363240	31941326	1182	64144											
MED15	51586	broad.mit.edu	37	chr22	20920938	20920938	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgccccagcagctgcagcAgatgcatcacacacagcacc	8	17	2	1	rs149450332		TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr22:20920938A>G	uc002zsp.2	+	7	955	c.875A>G	c.(874-876)CAG>CGG	p.Q292R	MED15_uc002zso.2_Missense_Mutation_p.Q221R|MED15_uc002zsq.2_Missense_Mutation_p.Q292R|MED15_uc010gso.2_Missense_Mutation_p.Q292R|MED15_uc002zsr.2_Missense_Mutation_p.Q266R|MED15_uc011ahs.1_Missense_Mutation_p.Q266R|MED15_uc002zss.2_Missense_Mutation_p.Q211R|MED15_uc011ahu.1_Missense_Mutation_p.Q18R	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	292	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CAGCTGCAGCAGATGCATCAC	0.607													G	20920938	A	G	20920938	3	3	96	1	0	0	0	0	1	0	0	0	9433	188	7	3	901	3	MED15	22	20920938	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1557698	20920938	30383628	1183	64145											
SLC7A4	6545	broad.mit.edu	37	chr22	21384460	21384460	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggaactgaaccagcgacTccaggtccagcagcagtgcc	11	14	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr22:21384460T>G	uc002zud.2	-	3	1231	c.1163A>C	c.(1162-1164)GAG>GCG	p.E388A	SLC7A4_uc002zue.2_Missense_Mutation_p.E388A	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	388					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AACCAGCGACTCCAGGTCCAG	0.637													G	21384460	T	G	21384460	3	3	96	1	0	0	0	0	1	0	0	0	14699	1551	54	5	756	5	SLC7A4	22	21384460	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	463522	21384460	29920106	1184	64146											
BCR	613	broad.mit.edu	37	chr22	23615951	23615951	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acggcagtccatgacggtgaAgaagggagaggtgagtgtgg	19	5	0	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr22:23615951A>C	uc002zww.2	+	8	2701	c.2105A>C	c.(2104-2106)AAG>ACG	p.K702T	BCR_uc002zwx.2_Missense_Mutation_p.K702T|BCR_uc011aiy.1_Missense_Mutation_p.K291T|BCR_uc010gtx.1_Missense_Mutation_p.K169T	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	702					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						ATGACGGTGAAGAAGGGAGAG	0.622			T	ABL1| FGFR1|JAK2 	CML|ALL|AML								C	23615951	A	C	23615951	3	2	96	1	0	0	0	0	1	0	0	0	1388	72	3	5	2135	5	BCR	22	23615951	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2231491	23615951	27688615	1185	64147											
RFPL1	5988	broad.mit.edu	37	chr22	29838005	29838005	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagccactgcacttgttttTtgctcctccaagtccaccta	7	14	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr22:29838005T>C	uc003afn.2	+	2	1057	c.848T>C	c.(847-849)TTT>TCT	p.F283S	RFPL1S_uc003afm.1_RNA	NM_021026	NP_066306	O75677	RFPL1_HUMAN	ret finger protein-like 1	283	B30.2/SPRY.						zinc ion binding				0						CACTTGTTTTTTGCTCCTCCA	0.493													C	29838005	T	C	29838005	3	2	96	1	0	0	0	0	1	0	0	0	13253	1841	64	3	854	3	RFPL1	22	29838005	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	6222054	29838005	21466561	1186	64148											
NEFH	4744	broad.mit.edu	37	chr22	29886668	29886668	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccagagaaggccacagaAgacaaggccgccaaggggaa	13	12	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr22:29886668A>G	uc003afo.2	+	4	3110	c.3039A>G	c.(3037-3039)GAA>GAG	p.E1013E	NEFH_uc003afp.2_Missense_Mutation_p.K79R	NM_021076	NP_066554	P12036	NFH_HUMAN	neurofilament, heavy polypeptide 200kDa	1019	Tail.				cell death|nervous system development	neurofilament					0						AGGCCACAGAAGACAAGGCCG	0.512													G	29886668	A	G	29886668	2	3	96	1	0	0	0	0	0	0	0	1	10314	69	3	3		3	NEFH	22	29886668	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	48663	29886668	21417898	1187	64149											
CCDC157	550631	broad.mit.edu	37	chr22	30772518	30772518	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cggcagccctgcacatccccAcctcggcagccctgcacatc	8	21	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr22:30772518A>T	uc011aku.1	+	12	2703	c.2043A>T	c.(2041-2043)CCA>CCT	p.P681P	CCDC157_uc011akv.1_Silent_p.P681P|uc003aho.1_5'Flank	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	coiled-coil domain containing 157	681										central_nervous_system(1)	1						GCACATCCCCACCTCGGCAGC	0.682													T	30772518	A	T	30772518	2	4	96	1	0	0	0	0	0	0	0	1	2789	146	6	5		5	CCDC157	22	30772518	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	885850	30772518	20532048	1188	64150											
SH3BP1	23616	broad.mit.edu	37	chr22	38061576	38061576	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctacaggcaccgggagcctgGccgctgcagtggagacagcc	15	14	0	1	rs150938915	byFrequency	TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr22:38061576G>T	uc003atj.1	+	17	2403	c.1516G>T	c.(1516-1518)GCC>TCC	p.A506S	PDXP_uc003atm.1_Missense_Mutation_p.A197S			Q9Y3L3	3BP1_HUMAN	SubName: Full=cDNA FLJ44925 fis, clone BRAMY3014613, highly similar to Homo sapiens SH3-domain binding protein 1 (SH3BP1);	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					CGGGAGCCTGGCCGCTGCAGT	0.647													T	38061576	G	T	38061576	3	4	96	1	0	0	0	0	1	0	0	0	14244	1203	42	5		5	SH3BP1	22	38061576	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	7289058	38061576	13242990	1189	64151											
SMCR7L	54471	broad.mit.edu	37	chr22	39908397	39908397	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcgggccaagcaagctgcTgtggacatatgtgccgagct	14	11	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr22:39908397T>C	uc003axx.2	+	5	981	c.483T>C	c.(481-483)GCT>GCC	p.A161A	SMCR7L_uc003axw.2_Silent_p.A161A|SMCR7L_uc010gxz.1_5'UTR|SMCR7L_uc003axy.2_5'UTR	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	161						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)					AGCAAGCTGCTGTGGACATAT	0.597													C	39908397	T	C	39908397	2	2	96	1	0	0	0	0	0	0	0	1	14791	1567	55	3		3	SMCR7L	22	39908397	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1846821	39908397	11396169	1190	64152											
TCF20	6942	broad.mit.edu	37	chr22	42609755	42609755	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggagcagcctccatcTaatgactctgccatagggga	11	12	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr22:42609755T>C	uc003bcj.1	-	1	1691	c.1557A>G	c.(1555-1557)TTA>TTG	p.L519L	TCF20_uc003bck.1_Silent_p.L519L|TCF20_uc003bnt.2_Silent_p.L519L	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						AGCCTCCATCTAATGACTCTG	0.537													C	42609755	T	C	42609755	2	2	96	1	0	0	0	0	0	0	0	1	15687	1519	53	3		3	TCF20	22	42609755	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2701358	42609755	8694811	1191	64153											
CELSR1	9620	broad.mit.edu	37	chr22	46860029	46860029	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttcaggatgttggagctgAcgtcggtgtcgttctggacg	16	8	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr22:46860029A>C	uc003bhw.1	-	2	3758	c.3758T>G	c.(3757-3759)GTC>GGC	p.V1253G		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1253	Extracellular (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTTGGAGCTGACGTCGGTGTC	0.652													C	46860029	A	C	46860029	3	2	96	1	0	0	0	0	1	0	0	0	3221	275	10	5	5422	5	CELSR1	22	46860029	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	4250274	46860029	4444537	1192	64154											
SAPS2	9701	broad.mit.edu	37	chr22	50857310	50857310	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttcagaggcagtcaaatgcTtctcagactctctgtgacat	8	10	4	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chr22:50857310T>A	uc003blb.1	+	8	1055	c.633T>A	c.(631-633)GCT>GCA	p.A211A	SAPS2_uc003bky.1_Silent_p.A211A|SAPS2_uc003bkz.1_Silent_p.A211A|SAPS2_uc003blc.2_Silent_p.A211A|SAPS2_uc003bla.1_Silent_p.A211A	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2	211						cytoplasm|intracellular membrane-bounded organelle	protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.222)		AGTCAAATGCTTCTCAGACTC	0.572													A	50857310	T	A	50857310	2	1	96	1	0	0	0	0	0	0	0	1	13837	1596	56	5		5	SAPS2	22	50857310	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3997281	50857310	447256	1193	64155											
PLCXD1	55344	broad.mit.edu	37	chrX	205517	205517	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcacgcgccctgtcgtgcTgaaatggtccgtcacccagg	11	15	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:205517T>C	uc004cpc.2	+	3	557	c.245T>C	c.(244-246)CTG>CCG	p.L82P	PLCXD1_uc011mgx.1_RNA	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X	82	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process		phospholipase C activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGTCGTGCTGAAATGGTCC	0.637													C	205517	T	C	205517	3	2	96	1	0	0	0	0	1	0	0	0	12041	1580	55	3	251	3	PLCXD1	23	205517	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08		205517	155065043	1194	64156											
SHOX	6473	broad.mit.edu	37	chrX	595445	595445	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggcgcagccgcaccaacTtcacgctggagcagctgaac	12	14	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:595445T>G	uc004cph.1	+	3	1061	c.370T>G	c.(370-372)TTC>GTC	p.F124V	SHOX_uc004cpi.2_Missense_Mutation_p.F124V	NM_000451	NP_000442	O15266	SHOX_HUMAN	short stature homeobox isoform SHOXa	124	Homeobox.				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCGCACCAACTTCACGCTGGA	0.617													G	595445	T	G	595445	3	3	96	1	0	0	0	0	1	0	0	0	14288	1609	56	5	376	5	SHOX	23	595445	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	389928	595445	154675115	1195	64157											
CSF2RA	1438	broad.mit.edu	37	chrX	1419418	1419418	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatttggaaaatagatacaActttccaagctctgagccca	7	9	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:1419418A>G	uc010nct.2	+	11	1167	c.845A>G	c.(844-846)AAC>AGC	p.N282S	CSF2RA_uc011mhb.1_Missense_Mutation_p.N282S|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.N282S|CSF2RA_uc004cpo.2_Missense_Mutation_p.N282S|CSF2RA_uc010ncu.2_Intron|CSF2RA_uc011mhc.1_Missense_Mutation_p.N149S|CSF2RA_uc004cpp.2_Missense_Mutation_p.N282S|CSF2RA_uc010ncv.2_Missense_Mutation_p.N282S|CSF2RA_uc004cpr.2_Missense_Mutation_p.N282S	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	282	Extracellular (Potential).					extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AATAGATACAACTTTCCAAGC	0.423													G	1419418	A	G	1419418	3	3	96	1	0	0	0	0	1	0	0	0	3934	43	2	3	875	3	CSF2RA	23	1419418	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	823973	1419418	153851142	1196	64158											
ASB9	140462	broad.mit.edu	37	chrX	15268632	15268632	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcccaggtggctgatcTtatggtcaatgttgccccca	12	11	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:15268632T>G	uc004cwl.2	-	5	735	c.488A>C	c.(487-489)AAG>ACG	p.K163T	ASB9_uc004cwk.2_Missense_Mutation_p.K163T|ASB9_uc004cwm.2_Missense_Mutation_p.K153T|ASB9_uc010ner.2_Missense_Mutation_p.K163T|ASB9_uc004cwn.2_Missense_Mutation_p.K134T	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box-containing 9 isoform	163					intracellular signal transduction						0	Hepatocellular(33;0.183)					GTGGCTGATCTTATGGTCAAT	0.468													G	15268632	T	G	15268632	3	3	96	1	0	0	0	0	1	0	0	0	1030	1609	56	5	437	5	ASB9	23	15268632	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	13849214	15268632	140001928	1197	64159											
SCML1	6322	broad.mit.edu	37	chrX	17771450	17771450	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttgggggtgaagctgggaAcggctgtgaagctatgctac	16	7	0	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:17771450A>G	uc004cyb.2	+	8	1253	c.928A>G	c.(928-930)ACG>GCG	p.T310A	SCML1_uc004cyc.2_Missense_Mutation_p.T283A|SCML1_uc004cyd.2_Missense_Mutation_p.T189A|SCML1_uc004cye.2_Missense_Mutation_p.T189A	NM_001037540	NP_001032629	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 isoform a	310	SAM.				anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)	3	Hepatocellular(33;0.183)					GAAGCTGGGAACGGCTGTGAA	0.428													G	17771450	A	G	17771450	3	3	96	1	0	0	0	0	1	0	0	0	13909	43	2	3	957	3	SCML1	23	17771450	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2502818	17771450	137499110	1198	64160											
PHKA2	5256	broad.mit.edu	37	chrX	18924619	18924619	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcatctcacctgagcAgttcaggctccgtgccagct	12	14	2	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:18924619A>G	uc004cyv.3	-	25	3230	c.2800T>C	c.(2800-2802)TGC>CGC	p.C934R	PHKA2_uc004cyu.3_Missense_Mutation_p.C232R|PHKA2_uc010nfe.1_5'Flank|PHKA2_uc010nff.1_5'Flank	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	934					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					TCACCTGAGCAGTTCAGGCTC	0.622													G	18924619	A	G	18924619	3	3	96	1	0	0	0	0	1	0	0	0	11844	188	7	3	943	3	PHKA2	23	18924619	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1153169	18924619	136345941	1199	64161											
PTCHD1	139411	broad.mit.edu	37	chrX	23398122	23398122	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtacccttacacgtcctccTcactgagggaagatttccag	8	13	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:23398122T>G	uc004dal.3	+	2	774	c.766T>G	c.(766-768)TCA>GCA	p.S256A	PTCHD1_uc010nfu.1_Missense_Mutation_p.S256A	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	256					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						CACGTCCTCCTCACTGAGGGA	0.507													G	23398122	T	G	23398122	3	3	96	1	0	0	0	0	1	0	0	0	12732	1551	54	5	772	5	PTCHD1	23	23398122	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	4473503	23398122	131872438	1200	64162											
FAM48B1	100130302	broad.mit.edu	37	chrX	24380992	24380992	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggaaaaactctgcaggaaAaactttatgacatttatgtt	8	6	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:24380992A>C	uc011mjx.1	+	1	115	c.115A>C	c.(115-117)AAA>CAA	p.K39Q		NM_001136234	NP_001129706			hypothetical protein LOC100130302											kidney(1)	1						TCTGCAGGAAAAACTTTATGA	0.423													C	24380992	A	C	24380992	3	2	96	1	0	0	0	0	1	0	0	0	5573	15	1	5	117	5	FAM48B1	23	24380992	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	982870	24380992	130889568	1201	64163											
MAGEB2	4113	broad.mit.edu	37	chrX	30237447	30237447	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccctggaagctcatcaccaaAgatctggtgcaggaaaaata	9	10	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:30237447A>T	uc004dbz.2	+	2	853	c.750A>T	c.(748-750)AAA>AAT	p.K250N		NM_002364	NP_002355	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	250	MAGE.						protein binding			ovary(1)	1						TCATCACCAAAGATCTGGTGC	0.507													T	30237447	A	T	30237447	3	4	96	1	0	0	0	0	1	0	0	0	9176	69	3	5	752	5	MAGEB2	23	30237447	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	5856455	30237447	125033113	1202	64164											
GK	2710	broad.mit.edu	37	chrX	30737592	30737592	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctacttcgtcccagcatttTcggggttatatgcaccttat	8	11	0	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:30737592T>G	uc004dch.3	+	15	1290	c.1111T>G	c.(1111-1113)TCG>GCG	p.S371A	GK_uc010ngj.2_Missense_Mutation_p.S365A|GK_uc004dci.3_Missense_Mutation_p.S365A|GK_uc011mjz.1_Missense_Mutation_p.S166A|GK_uc011mka.1_Missense_Mutation_p.S208A|GK_uc010ngk.2_Missense_Mutation_p.S160A	NM_203391	NP_976325	P32189	GLPK_HUMAN	glycerol kinase isoform a	371					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)	1						CCCAGCATTTTCGGGGTTATA	0.363													G	30737592	T	G	30737592	3	3	96	1	0	0	0	0	1	0	0	0	6420	1783	62	5	1169	5	GK	23	30737592	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	500145	30737592	124532968	1203	64165											
SYTL5	94122	broad.mit.edu	37	chrX	37984761	37984761	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtttgaattctggaagtggTgagggatttggggacccaca	15	6	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:37984761T>G	uc004ddu.2	+	17	2584	c.2050_splice	c.e17+2	p.G684_splice	SYTL5_uc004ddv.2_Splice_Site_p.G684_splice|SYTL5_uc004ddx.2_Splice_Site_p.G706_splice	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5 isoform 1						intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			skin(1)	1						CTGGAAGTGGTGAGGGATTTG	0.468													G	37984761	T	G	37984761	5	3	96	1	0	0	0	0	0	0	1	0	15483	1710	59	5	2180	5	SYTL5	23	37984761	Splice_Site	SNP	T	TCGA-BR-8589-01A-11D-2394-08	7247169	37984761	117285799	1204	64166											
RPGR	6103	broad.mit.edu	37	chrX	38169936	38169936	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccggaatttcagacaccAgctggggtgttctgtgattg	12	9	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:38169936A>G	uc004ded.1	-	7	878	c.710T>C	c.(709-711)CTG>CCG	p.L237P	RPGR_uc004deb.2_Missense_Mutation_p.L237P|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform C	237	RCC1 4.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						TTCAGACACCAGCTGGGGTGT	0.507													G	38169936	A	G	38169936	3	3	96	1	0	0	0	0	1	0	0	0	13548	188	7	3	3343	3	RPGR	23	38169936	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	185175	38169936	117100624	1205	64167											
EFHC2	80258	broad.mit.edu	37	chrX	44109672	44109672	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggattcgtagggacgtaagGgctctacgtgttctacaacc	13	9	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:44109672G>T	uc004dgb.3	-	6	716	c.626C>A	c.(625-627)CCC>CAC	p.P209H		NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	209							calcium ion binding			breast(3)|ovary(2)|central_nervous_system(1)	6						GGGACGTAAGGGCTCTACGTG	0.418													T	44109672	G	T	44109672	3	4	96	1	0	0	0	0	1	0	0	0	4947	1232	43	5	1667	5	EFHC2	23	44109672	Missense_Mutation	SNP	G	TCGA-BR-8589-01A-11D-2394-08	5939736	44109672	111160888	1206	64168											
RGN	9104	broad.mit.edu	37	chrX	46951102	46951102	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcagaagtgtttacaagctAgaaaaggaagaacaaatccc	9	8	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:46951102A>G	uc004dgz.1	+	6	1557	c.588A>G	c.(586-588)CTA>CTG	p.L196L	RGN_uc004dha.1_Silent_p.L196L|RGN_uc010nho.1_Silent_p.L143L|RGN_uc010nhp.1_Silent_p.L124L	NM_152869	NP_690608	Q15493	RGN_HUMAN	regucalcin	196					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding				0						TTTACAAGCTAGAAAAGGAAG	0.423													G	46951102	A	G	46951102	2	3	96	1	0	0	0	0	0	0	0	1	13282	407	15	3		3	RGN	23	46951102	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	2841430	46951102	108319458	1207	64169											
CCNB3	85417	broad.mit.edu	37	chrX	50051989	50051989	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttttaagaagaagcctaaaActgaggagtcaatccccacc	8	10	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:50051989A>T	uc004dox.3	+	6	1118	c.820A>T	c.(820-822)ACT>TCT	p.T274S	CCNB3_uc004doy.2_Missense_Mutation_p.T274S|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	274					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					GAAGCCTAAAACTGAGGAGTC	0.423													T	50051989	A	T	50051989	3	4	96	1	0	0	0	0	1	0	0	0	2914	43	2	5	834	5	CCNB3	23	50051989	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	3100887	50051989	105218571	1208	64170											
MAGEE1	57692	broad.mit.edu	37	chrX	75648336	75648336	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaccatgtctctggtaAgccagaattcgcgccgccgc	12	14	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:75648336A>C	uc004ecm.1	+	1	220	c.13A>C	c.(13-15)AGC>CGC	p.S5R		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	5						dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						GTCTCTGGTAAGCCAGAATTc	0.567													C	75648336	A	C	75648336	3	2	96	1	0	0	0	0	1	0	0	0	9185	72	3	5	15	5	MAGEE1	23	75648336	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	25596347	75648336	79622224	1209	64171											
ZNF711	7552	broad.mit.edu	37	chrX	84510394	84510394	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatggccttgcagctgaagTtgtccatggacctgatatca	10	10	2	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:84510394T>G	uc004eeo.2	+	4	556	c.209T>G	c.(208-210)GTT>GGT	p.V70G	ZNF711_uc004eep.2_Missense_Mutation_p.V70G|ZNF711_uc004eeq.2_Missense_Mutation_p.V70G	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	70					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			ovary(3)|skin(1)	4						GCAGCTGAAGTTGTCCATGGA	0.428													G	84510394	T	G	84510394	3	3	96	1	0	0	0	0	1	0	0	0	18113	1725	60	5	215	5	ZNF711	23	84510394	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	8862058	84510394	70760166	1210	64172											
TAF7L	54457	broad.mit.edu	37	chrX	100536734	100536734	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgttttccggaacctttTctttctgacattcttaagtg	7	8	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:100536734T>A	uc004ehb.2	-	6	706	c.694A>T	c.(694-696)AAA>TAA	p.K232*	TAF7L_uc004eha.2_Nonsense_Mutation_p.K146*|TAF7L_uc004ehc.1_Nonsense_Mutation_p.K146*	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN	TATA box binding protein-associated factor, RNA	232					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			breast(1)	1						CGGAACCTTTTCTTTCTGACA	0.378													A	100536734	T	A	100536734	4	1	96	1	0	0	0	0	0	1	0	0	15530	1792	62	5	726	5	TAF7L	23	100536734	Nonsense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	16026340	100536734	54733826	1211	64173											
GPRASP2	114928	broad.mit.edu	37	chrX	101970070	101970070	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacccaaaacggaggctcaAggaatcacaggggccaggcc	13	12	2	1	rs139738191	byFrequency	TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:101970070A>G	uc004ejk.2	+	4	1607	c.273A>G	c.(271-273)CAA>CAG	p.Q91Q	GPRASP2_uc004ejl.2_Silent_p.Q91Q|GPRASP2_uc004ejm.2_Silent_p.Q91Q|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	91						cytoplasm	protein binding			ovary(1)	1						CGGAGGCTCAAGGAATCACAG	0.577													G	101970070	A	G	101970070	2	3	96	1	0	0	0	0	0	0	0	1	6723	69	3	3		3	GPRASP2	23	101970070	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1433336	101970070	53300490	1212	64174											
GLRA4	441509	broad.mit.edu	37	chrX	102979114	102979114	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcaaagaagaggtctggcTtccagatagagtccagcatg	12	8	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:102979114T>G	uc011mse.1	-	4	807	c.386A>C	c.(385-387)AAG>ACG	p.K129T	GLRA4_uc010nou.2_Missense_Mutation_p.K129T	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4 precursor	129	Extracellular (Potential).					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity				0						GAGGTCTGGCTTCCAGATAGA	0.512													G	102979114	T	G	102979114	3	3	96	1	0	0	0	0	1	0	0	0	6457	1609	56	5	986	5	GLRA4	23	102979114	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1009044	102979114	52291446	1213	64175											
NRK	203447	broad.mit.edu	37	chrX	105178289	105178289	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcctcaaatgccattgacTcaggtgctgcaccgtcagca	10	13	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:105178289T>C	uc004emd.2	+	20	3655	c.3352T>C	c.(3352-3354)TCA>CCA	p.S1118P	NRK_uc010npc.1_Missense_Mutation_p.S786P	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1118							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						TGCCATTGACTCAGGTGCTGC	0.413										HNSCC(51;0.14)			C	105178289	T	C	105178289	3	2	96	1	0	0	0	0	1	0	0	0	10655	1551	54	3	3430	3	NRK	23	105178289	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2199175	105178289	50092271	1214	64176											
MUM1L1	139221	broad.mit.edu	37	chrX	105450021	105450021	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgagactttcccttcacTttcggaagataatgatgaaa	9	8	1	4			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:105450021T>A	uc004emf.1	+	4	1245	c.596T>A	c.(595-597)CTT>CAT	p.L199H	MUM1L1_uc004emg.1_Missense_Mutation_p.L199H	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	199										ovary(2)|pancreas(1)|skin(1)	4						TTCCCTTCACTTTCGGAAGAT	0.383													A	105450021	T	A	105450021	3	1	96	1	0	0	0	0	1	0	0	0	9986	1609	56	5	598	5	MUM1L1	23	105450021	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	271732	105450021	49820539	1215	64177											
MID2	11043	broad.mit.edu	37	chrX	107167580	107167580	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccccatgttacaggcctgtaTaattcagtagacagctggat	9	10	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:107167580T>A	uc004enl.2	+	8	2016	c.1443T>A	c.(1441-1443)TAT>TAA	p.Y481*	MID2_uc004enk.2_Nonsense_Mutation_p.Y451*	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	midline 2 isoform 1	481	Fibronectin type-III.					centrosome|microtubule	ligase activity|zinc ion binding			ovary(1)	1						CAGGCCTGTATAATTCAGTAG	0.433													A	107167580	T	A	107167580	4	1	96	1	0	0	0	0	0	1	0	0	9578	1413	49	5	1473	5	MID2	23	107167580	Nonsense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	1717559	107167580	48102980	1216	64178											
TEX13B	56156	broad.mit.edu	37	chrX	107225022	107225022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgctgttccttgagttcCgtcaggtttgaggccaagac	11	11	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:107225022C>T	uc004enn.1	-	2	429	c.336G>A	c.(334-336)ACG>ACA	p.T112T		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	testis expressed 13B	112										ovary(1)	1						CCTTGAGTTCCGTCAGGTTTG	0.582													T	107225022	C	T	107225022	2	4	96	1	0	0	0	0	0	0	0	1	15774	639	23	1		1	TEX13B	23	107225022	Silent	SNP	C	TCGA-BR-8589-01A-11D-2394-08	57442	107225022	48045538	1217	64179											
COL4A5	1287	broad.mit.edu	37	chrX	107863537	107863537	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggatccaggacctcctggacTtgatgttccaggacccccag	11	14	0	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:107863537T>A	uc004enz.1	+	31	2760	c.2558T>A	c.(2557-2559)CTT>CAT	p.L853H	COL4A5_uc011mso.1_Missense_Mutation_p.L853H|COL4A5_uc004eob.1_Missense_Mutation_p.L461H	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	853	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						CCTCCTGGACTTGATGTTCCA	0.483									Alport_syndrome_with_Diffuse_Leiomyomatosis				A	107863537	T	A	107863537	3	1	96	1	0	0	0	0	1	0	0	0	3694	1609	56	5	2680	5	COL4A5	23	107863537	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	638515	107863537	47407023	1218	64180											
CAPN6	827	broad.mit.edu	37	chrX	110489860	110489860	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagctgatgtggccttgcTtgactttggcagttggacca	13	8	0	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:110489860T>C	uc004epc.1	-	13	2039	c.1871A>G	c.(1870-1872)AAG>AGG	p.K624R	CAPN6_uc011msu.1_Missense_Mutation_p.K369R	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	624					microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						GTGGCCTTGCTTGACTTTGGC	0.507													C	110489860	T	C	110489860	3	2	96	1	0	0	0	0	1	0	0	0	2630	1609	56	3	58	3	CAPN6	23	110489860	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2626323	110489860	44780700	1219	64181											
ATP1B4	23439	broad.mit.edu	37	chrX	119509228	119509228	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactcacacatgctttaggTtataatgacagtcttcaaga	6	10	3	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:119509228T>G	uc004esr.2	+	5	648	c.564T>G	c.(562-564)GGT>GGG	p.G188G	ATP1B4_uc004esq.2_Silent_p.G184G|ATP1B4_uc011mtx.1_Silent_p.G153G|ATP1B4_uc011mty.1_Silent_p.G145G	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	ATPase, (Na+)/K+ transporting, beta 4	188	Perinuclear space (Potential).				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			ovary(1)|skin(1)	2						ATGCTTTAGGTTATAATGACA	0.493													G	119509228	T	G	119509228	2	3	96	1	0	0	0	0	0	0	0	1	1135	1739	60	5		5	ATP1B4	23	119509228	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	9019368	119509228	35761332	1220	64182											
GLUD2	2747	broad.mit.edu	37	chrX	120182312	120182312	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacgcctgtgttactggtaaAcccatcagccaagggggaat	11	11	1	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:120182312A>T	uc004eto.2	+	1	851	c.774A>T	c.(772-774)AAA>AAT	p.K258N		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	258					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)	TTACTGGTAAACCCATCAGCC	0.488													T	120182312	A	T	120182312	3	4	96	1	0	0	0	0	1	0	0	0	6477	40	2	5	776	5	GLUD2	23	120182312	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	673084	120182312	35088248	1221	64183											
GRIA3	2892	broad.mit.edu	37	chrX	122616702	122616702	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggcgttttctatatacTtgtcggaggtctggggctgg	16	7	2	0			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:122616702T>C	uc004etq.3	+	16	2785	c.2492T>C	c.(2491-2493)CTT>CCT	p.L831P	GRIA3_uc004etr.3_Missense_Mutation_p.L831P|GRIA3_uc004ets.3_RNA	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	831	Helical; (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)	TTCTATATACTTGTCGGAGGT	0.468													C	122616702	T	C	122616702	3	2	96	1	0	0	0	0	1	0	0	0	6769	1609	56	3	2669	3	GRIA3	23	122616702	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2434390	122616702	32653858	1222	64184											
ODZ1	10178	broad.mit.edu	37	chrX	123680875	123680875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggatctggtgagccctggcAgagaggacttatataacagt	13	7	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:123680875A>G	uc004euj.2	-	15	2564	c.2500T>C	c.(2500-2502)TGC>CGC	p.C834R	ODZ1_uc011muj.1_Missense_Mutation_p.C833R|ODZ1_uc010nqy.2_Missense_Mutation_p.C834R	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	834	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						GAGCCCTGGCAGAGAGGACTT	0.398													G	123680875	A	G	123680875	3	3	96	1	0	0	0	0	1	0	0	0	10834	188	7	3	5770	3	ODZ1	23	123680875	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1064173	123680875	31589685	1223	64185											
USP26	83844	broad.mit.edu	37	chrX	132160803	132160803	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccaaaaaaaagatcaaaAgtagactgaatagatgaagg	9	5	1	5			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:132160803A>G	uc010nrm.1	-	6	1916	c.1446T>C	c.(1444-1446)ACT>ACC	p.T482T	USP26_uc011mvf.1_Silent_p.T482T	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	482					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					AAAGATCAAAAGTAGACTGAA	0.393													G	132160803	A	G	132160803	2	3	96	1	0	0	0	0	0	0	0	1	17054	59	3	3		3	USP26	23	132160803	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	8479928	132160803	23109757	1224	64186											
GPR112	139378	broad.mit.edu	37	chrX	135430503	135430503	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctaaaacaatgcatccaggTtgtttgaaaagtccctgtac	7	9	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:135430503T>G	uc004ezu.1	+	6	4929	c.4638T>G	c.(4636-4638)GGT>GGG	p.G1546G	GPR112_uc010nsb.1_Silent_p.G1341G|GPR112_uc010nsc.1_Silent_p.G1313G	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1546	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					TGCATCCAGGTTGTTTGAAAA	0.423													G	135430503	T	G	135430503	2	3	96	1	0	0	0	0	0	0	0	1	6629	1712	60	5		5	GPR112	23	135430503	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	3269700	135430503	19840057	1225	64187											
GPR112	139378	broad.mit.edu	37	chrX	135488095	135488095	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggacccatgaggaactttTtcttgtatttgtttgccatt	10	7	1	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:135488095T>G	uc004ezu.1	+	23	9190	c.8899T>G	c.(8899-8901)TTC>GTC	p.F2967V	GPR112_uc010nsb.1_Missense_Mutation_p.F2762V	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2967	Helical; Name=7; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					GAGGAACTTTTTCTTGTATTT	0.438													G	135488095	T	G	135488095	3	3	96	1	0	0	0	0	1	0	0	0	6629	1841	64	5	8977	5	GPR112	23	135488095	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	57592	135488095	19782465	1226	64188											
AFF2	2334	broad.mit.edu	37	chrX	148037396	148037396	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcagaaaattccagaaacAaaggctttgaagcataagtt	7	7	1	3			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:148037396A>G	uc004fcp.2	+	11	2300	c.1821A>G	c.(1819-1821)ACA>ACG	p.T607T	AFF2_uc004fcq.2_Silent_p.T597T|AFF2_uc004fcr.2_Silent_p.T568T|AFF2_uc011mxb.1_Silent_p.T572T|AFF2_uc004fcs.2_Silent_p.T574T|AFF2_uc011mxc.1_Silent_p.T248T	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	607					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAGAAACAAAGGCTTTGA	0.473													G	148037396	A	G	148037396	2	3	96	1	0	0	0	0	0	0	0	1	357	117	5	3		3	AFF2	23	148037396	Silent	SNP	A	TCGA-BR-8589-01A-11D-2394-08	12549301	148037396	7233164	1227	64189											
MAMLD1	10046	broad.mit.edu	37	chrX	149671655	149671655	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgagtccttcctgcccggcAgctcctttgctcatgagctg	11	14	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:149671655A>G	uc004fee.1	+	5	2228	c.2152A>G	c.(2152-2154)AGC>GGC	p.S718G	MAMLD1_uc011mxu.1_Intron|MAMLD1_uc011mxv.1_Missense_Mutation_p.S693G|MAMLD1_uc011mxw.1_Missense_Mutation_p.S604G	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	718					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCCCGGCAGCTCCTTTGC	0.612													G	149671655	A	G	149671655	3	3	96	1	0	0	0	0	1	0	0	0	9208	188	7	3	2170	3	MAMLD1	23	149671655	Missense_Mutation	SNP	A	TCGA-BR-8589-01A-11D-2394-08	1634259	149671655	5598905	1228	64190											
ZNF185	7739	broad.mit.edu	37	chrX	152100279	152100279	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagctccagagggacttggcTggtgaggaggctttcagggc	18	8	1	2			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:152100279T>A	uc010ntv.1	+	13	1015	c.978T>A	c.(976-978)GCT>GCA	p.A326A	ZNF185_uc011myg.1_Silent_p.A326A|ZNF185_uc011myh.1_Silent_p.A297A|ZNF185_uc011myi.1_Silent_p.A297A|ZNF185_uc011myj.1_Silent_p.A267A|ZNF185_uc011myk.1_Silent_p.A327A|ZNF185_uc004fgw.3_Silent_p.A105A|ZNF185_uc004fgu.2_Intron|ZNF185_uc004fgv.2_Silent_p.A23A	NM_007150	NP_009081	O15231	ZN185_HUMAN	zinc finger protein 185	326						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GGGACTTGGCTGGTGAGGAGG	0.552													A	152100279	T	A	152100279	2	1	96	1	0	0	0	0	0	0	0	1	17749	1567	55	5		5	ZNF185	23	152100279	Silent	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2428624	152100279	3170281	1229	64191											
TMLHE	55217	broad.mit.edu	37	chrX	154736703	154736703	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcaaattcctcaggtgccTtttgaagtacctgttctgct	8	10	3	1			TCGA-BR-8589-01A-11D-2394-08	TCGA-BR-8589-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bac4806-1772-4b40-b2d1-b55ed1674019	d5ee4fdc-25db-4fe2-b078-0406e217ee5a	g.chrX:154736703T>G	uc004fnn.2	-	6	1017	c.851A>C	c.(850-852)AAG>ACG	p.K284T	TMLHE_uc004fno.2_Missense_Mutation_p.K284T|TMLHE_uc004fnp.3_Missense_Mutation_p.K284T	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	284					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			ovary(1)	1	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	CTCAGGTGCCTTTTGAAGTAC	0.418													G	154736703	T	G	154736703	3	3	96	1	0	0	0	0	1	0	0	0	16229	1609	56	5	566	5	TMLHE	23	154736703	Missense_Mutation	SNP	T	TCGA-BR-8589-01A-11D-2394-08	2636424	154736703	533857	1230	64192											
CCDC27	148870	broad.mit.edu	37	chr1	3679856	3679856	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaagaggaggaaggggacaGggatgaggactcagaggaaa	20	3	1	3			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:3679856G>T	uc001akv.2	+	7	1220	c.1139G>T	c.(1138-1140)AGG>ATG	p.R380M		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	380	Glu-rich.			R -> K (in Ref. 1; BAB71462).						skin(1)	1	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		gaaggggacagggatgaggac	0.388													T	3679856	G	T	3679856	3	4	97	1	0	0	0	0	1	0	0	0	2801	1000	35	5	1165	5	CCDC27	1	3679856	Missense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08		3679856	245570765	1	64193											
CELA3A	10136	broad.mit.edu	37	chr1	22336257	22336257	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctggcaggtccacggTgtgaccagctttgtttctgc	15	10	1	1	rs111718190	byFrequency	TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:22336257T>C	uc001bfl.2	+	7	721	c.702T>C	c.(700-702)GGT>GGC	p.G234G		NM_005747	NP_005738	P09093	CEL3A_HUMAN	elastase 3A, pancreatic preproprotein	234	Peptidase S1.				cholesterol metabolic process|digestion|proteolysis		serine-type endopeptidase activity			haematopoietic_and_lymphoid_tissue(1)	1						AGGTCCACGGTGTGACCAGCT	0.587													C	22336257	T	C	22336257	2	2	97	1	0	0	0	0	0	0	0	1	3213	1683	59	3		3	CELA3A	1	22336257	Silent	SNP	T	TCGA-BR-8590-01A-11D-2394-08	18656401	22336257	226914364	2	64194											
ANKRD13C	81573	broad.mit.edu	37	chr1	70790597	70790597	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctccatccctgagcatttttCaccttgactggagcattgtg	8	12	1	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:70790597C>T	uc001dex.3	-	3	842	c.516G>A	c.(514-516)GTG>GTA	p.V172V	ANKRD13C_uc009wbk.2_Intron	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	172	ANK 2.				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding				0						GAGCATTTTTCACCTTGACTG	0.373													T	70790597	C	T	70790597	2	4	97	1	0	0	0	0	0	0	0	1	643	813	29	4		4	ANKRD13C	1	70790597	Silent	SNP	C	TCGA-BR-8590-01A-11D-2394-08	48454340	70790597	178460024	3	64195											
AMPD1	270	broad.mit.edu	37	chr1	115218607	115218607	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaatgtggaaggaaattcTtggaacggaacacatcacta	9	7	2	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:115218607T>G	uc001efe.1	-	11	1490	c.1406A>C	c.(1405-1407)AAG>ACG	p.K469T	AMPD1_uc001eff.1_Missense_Mutation_p.K465T	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	469					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AAGGAAATTCTTGGAACGGAA	0.433													G	115218607	T	G	115218607	3	3	97	1	0	0	0	0	1	0	0	0	585	1609	56	5	861	5	AMPD1	1	115218607	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	44428010	115218607	134032014	4	64196											
PPIAL4G	644591	broad.mit.edu	37	chr1	143767596	143767596	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctttcggatgaggttctcatCatcaaatttctccccataga	6	11	4	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:143767596C>A	uc001ejt.2	-	1	286	c.253G>T	c.(253-255)GAT>TAT	p.D85Y		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like	85	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity				0						AGGTTCTCATCATCAAATTTC	0.468													A	143767596	C	A	143767596	3	1	97	1	0	0	0	0	1	0	0	0	12318	826	29	5	245	5	PPIAL4G	1	143767596	Missense_Mutation	SNP	C	TCGA-BR-8590-01A-11D-2394-08	28548989	143767596	105483025	5	64197											
OR6K3	391114	broad.mit.edu	37	chr1	158687659	158687659	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttcactgatgaggttggAgagcatcttgggaatggtgg	15	5	2	3			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:158687659A>G	uc010pip.1	-	1	295	c.295T>C	c.(295-297)TCC>CCC	p.S99P		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	99	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					ATGAGGTTGGAGAGCATCTTG	0.453													G	158687659	A	G	158687659	3	3	97	1	0	0	0	0	1	0	0	0	11203	304	11	3	702	3	OR6K3	1	158687659	Missense_Mutation	SNP	A	TCGA-BR-8590-01A-11D-2394-08	14920063	158687659	90562962	6	64198											
CRP	1401	broad.mit.edu	37	chr1	159683371	159683371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcacttcatacttcagtgCccgccagttcaggacattag	8	12	3	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:159683371C>T	uc001ftw.2	-	2	723	c.619G>A	c.(619-621)GCA>ACA	p.A207T	CRP_uc001ftx.1_Missense_Mutation_p.A74T|CRP_uc001fty.1_RNA	NM_000567	NP_000558	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related precursor	207	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	TACTTCAGTGCCCGCCAGTTC	0.527													T	159683371	C	T	159683371	3	4	97	1	0	0	0	0	1	0	0	0	3895	739	26	2	59	2	CRP	1	159683371	Missense_Mutation	SNP	C	TCGA-BR-8590-01A-11D-2394-08	995712	159683371	89567250	7	64199											
CRP	1401	broad.mit.edu	37	chr1	159683427	159683427	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagatagatggtgttaatcTcatctggtgacagcacaaag	10	7	2	3			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:159683427T>C	uc001ftw.2	-	2	667	c.563A>G	c.(562-564)GAG>GGG	p.E188G	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_RNA	NM_000567	NP_000558	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related precursor	188	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	GGTGTTAATCTCATCTGGTGA	0.517													C	159683427	T	C	159683427	3	2	97	1	0	0	0	0	1	0	0	0	3895	1551	54	3	115	3	CRP	1	159683427	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	56	159683427	89567194	8	64200											
VANGL2	57216	broad.mit.edu	37	chr1	160385857	160385857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcctgccgcagggaccGccgggaccgacaccgctcta	13	17	1	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:160385857G>A	uc001fwb.1	+	4	376	c.77G>A	c.(76-78)CGC>CAC	p.R26H	VANGL2_uc001fwc.1_Missense_Mutation_p.R26H	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	26	Cytoplasmic (Potential).				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGCAGGGACCGCCGGGACCGA	0.637													A	160385857	G	A	160385857	3	1	97	1	0	0	0	0	1	0	0	0	17117	1087	38	1	83	1	VANGL2	1	160385857	Missense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08	702430	160385857	88864764	9	64201											
TNNI1	7135	broad.mit.edu	37	chr1	201380567	201380567	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcttggagcccagcagggccCggagcatggcgtcagccgag	17	13	1	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:201380567C>G	uc010ppq.1	-	7	467	c.374G>C	c.(373-375)CGG>CCG	p.R125P	TNNI1_uc001gwo.1_RNA|TNNI1_uc001gwp.2_Missense_Mutation_p.R104P	NM_003281	NP_003272	P19237	TNNI1_HUMAN	troponin I, skeletal, slow	125					muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding				0						CAGCAGGGCCCGGAGCATGGC	0.592													G	201380567	C	G	201380567	3	3	97	1	0	0	0	0	1	0	0	0	16323	652	23	5	197	5	TNNI1	1	201380567	Missense_Mutation	SNP	C	TCGA-BR-8590-01A-11D-2394-08	40994710	201380567	47870054	10	64202											
FMN2	56776	broad.mit.edu	37	chr1	240370873	240370873	+	Frame_Shift_Del	DEL	C	C	-													ctcttcccggagcgggcataCctcctccgccgcctctaccc							TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:240370872_240370872AC>A	uc010pye.2	+	5	2997	c.2772_2772AC>A	c.(2770-2772)atafs	p.I924fs	FMN2_uc010pyd.2_Frame_Shift_Del_p.I920fs	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	920	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGCGGGCATACCTCCTCCGC	0.657													-	240370873	C	-	240370873	7	5	97	1	0	1	0	1	0	0	0	0	5950	507	18	0	2779	0	FMN2	1	240370873	Frame_Shift_Del	DEL	C	TCGA-BR-8590-01A-11D-2394-08	38990306	240370873	8879748	11	64203											
GREM2	64388	broad.mit.edu	37	chr1	240656388	240656388	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgagctccacgaggacggAggtgacgcgctggggcttgc	17	12	0	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:240656388A>C	uc001hys.2	-	2	668	c.388T>G	c.(388-390)TCC>GCC	p.S130A		NM_022469	NP_071914	Q9H772	GREM2_HUMAN	gremlin 2 precursor	130	CTCK.				BMP signaling pathway	extracellular space	cytokine activity				0		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			ACGAGGACGGAGGTGACGCGC	0.622													C	240656388	A	C	240656388	3	2	97	1	0	0	0	0	1	0	0	0	6762	304	11	5	122	5	GREM2	1	240656388	Missense_Mutation	SNP	A	TCGA-BR-8590-01A-11D-2394-08	285515	240656388	8594233	12	64204											
OR2M2	391194	broad.mit.edu	37	chr1	248344005	248344005	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcgttgcaaagctttcacgAcctgttcctctcacctcatg	7	14	3	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:248344005A>T	uc010pzf.1	+	1	718	c.718A>T	c.(718-720)ACC>TCC	p.T240S		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGCTTTCACGACCTGTTCCTC	0.488													T	248344005	A	T	248344005	3	4	97	1	0	0	0	0	1	0	0	0	11010	275	10	5	720	5	OR2M2	1	248344005	Missense_Mutation	SNP	A	TCGA-BR-8590-01A-11D-2394-08	7687617	248344005	906616	13	64205											
OR2M4	26245	broad.mit.edu	37	chr1	248402877	248402877	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagtttcagttatcatacTttcctattcccatgtccttc	3	13	2	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:248402877T>G	uc010pzh.1	+	1	647	c.647T>G	c.(646-648)CTT>CGT	p.L216R		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M,	216	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTTATCATACTTTCCTATTCC	0.478													G	248402877	T	G	248402877	3	3	97	1	0	0	0	0	1	0	0	0	11012	1609	56	5	649	5	OR2M4	1	248402877	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	58872	248402877	847744	14	64206											
KCNF1	3754	broad.mit.edu	37	chr2	11053508	11053508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcacctatgccctcaagcGcagcttcaaggaactggggc	10	15	3	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr2:11053508G>A	uc002rax.2	+	1	1446	c.956G>A	c.(955-957)CGC>CAC	p.R319H		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	319	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GCCCTCAAGCGCAGCTTCAAG	0.632													A	11053508	G	A	11053508	3	1	97	1	0	0	0	0	1	0	0	0	8026	1087	38	1	958	1	KCNF1	2	11053508	Missense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08		11053508	232145865	15	64207											
VRK2	7444	broad.mit.edu	37	chr2	58386561	58386561	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacagtttcccacaaaaaatCagctatacacaattcccaaa	2	12	1	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr2:58386561C>T	uc002rzo.2	+	16	2005	c.1260C>T	c.(1258-1260)ATC>ATT	p.I420I	VRK2_uc010fcb.2_3'UTR|VRK2_uc002rzs.2_3'UTR|VRK2_uc002rzr.2_3'UTR|VRK2_uc010fcc.2_Silent_p.I302I|VRK2_uc002rzv.2_Silent_p.I420I|VRK2_uc010fcd.2_Silent_p.I397I|VRK2_uc002rzp.2_Silent_p.I420I|VRK2_uc010ypg.1_Silent_p.I420I|VRK2_uc002rzq.2_3'UTR|VRK2_uc002rzu.2_3'UTR|VRK2_uc002rzt.2_Silent_p.I302I|FANCL_uc002rzw.3_3'UTR|FANCL_uc002rzx.3_3'UTR|FANCL_uc010fce.2_3'UTR	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	vaccinia related kinase 2 isoform 2	420						integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1						CACAAAAAATCAGCTATACAC	0.333													T	58386561	C	T	58386561	2	4	97	1	0	0	0	0	0	0	0	1	17217	816	29	4		4	VRK2	2	58386561	Silent	SNP	C	TCGA-BR-8590-01A-11D-2394-08	47333053	58386561	184812812	16	64208											
LRP1B	53353	broad.mit.edu	37	chr2	141946115	141946115	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatggtccacaaaatagagAtttcgagtgagccagtcaat	9	8	1	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr2:141946115A>G	uc002tvj.1	-	7	1860	c.888T>C	c.(886-888)AAT>AAC	p.N296N	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	296	Extracellular (Potential).|LDL-receptor class B 2.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAAAATAGAGATTTCGAGTGA	0.408										TSP Lung(27;0.18)			G	141946115	A	G	141946115	2	3	97	1	0	0	0	0	0	0	0	1	8955	330	12	3		3	LRP1B	2	141946115	Silent	SNP	A	TCGA-BR-8590-01A-11D-2394-08	83559554	141946115	101253258	17	64209											
OSBPL6	114880	broad.mit.edu	37	chr2	179260240	179260240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgacacctactgggagcttcGaaaggaccctgggtttagca	12	11	0	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr2:179260240G>A	uc002ulx.2	+	25	3137	c.2759G>A	c.(2758-2760)CGA>CAA	p.R920Q	OSBPL6_uc002uly.2_Missense_Mutation_p.R945Q|OSBPL6_uc010zfe.1_Missense_Mutation_p.R889Q|OSBPL6_uc002ulz.2_Missense_Mutation_p.R884Q|OSBPL6_uc002uma.2_Missense_Mutation_p.R924Q	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	920					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TGGGAGCTTCGAAAGGACCCT	0.393													A	179260240	G	A	179260240	3	1	97	1	0	0	0	0	1	0	0	0	11281	1058	37	1	2971	1	OSBPL6	2	179260240	Missense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08	37314125	179260240	63939133	18	64210											
TTN	7273	broad.mit.edu	37	chr2	179423358	179423359	+	Missense_Mutation	DNP	GG	GG	TT													caagtttttcaggtgggcttGgtttttctaagaaaacaaag							TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr2:179423358_179423359GG>TT	uc010zfg.1	-	276	79347_79348	c.79123_79124CC>AA	c.(79123-79125)CCA>AAA	p.P26375K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P20070K|TTN_uc010zfi.1_Missense_Mutation_p.P20003K|TTN_uc010zfj.1_Missense_Mutation_p.P19878K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27302							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTGGGCTTGGTTTTTCTAAG	0.361													TT	179423359	GG	TT	179423358	3	4	97	1	0	0	0	0	1	0	0	0	16732	1348	47	5	21295	5	TTN	2	179423358	Missense_Mutation	DNP	GG	TCGA-BR-8590-01A-11D-2394-08	163118	179423358	63776015	19	64211											
ERBB4	2066	broad.mit.edu	37	chr2	212251754	212251754	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattacagcaggagtcatcaAaaatctcagcagtagcaccc	7	12	3	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr2:212251754A>C	uc002veg.1	-	27	3403	c.3305T>G	c.(3304-3306)TTT>TGT	p.F1102C	ERBB4_uc002veh.1_Missense_Mutation_p.F1086C|ERBB4_uc010zji.1_Missense_Mutation_p.F1092C|ERBB4_uc010zjj.1_Missense_Mutation_p.F1076C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1102	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GGAGTCATCAAAAATCTCAGC	0.547										TSP Lung(8;0.080)			C	212251754	A	C	212251754	3	2	97	1	0	0	0	0	1	0	0	0	5209	14	1	5	629	5	ERBB4	2	212251754	Missense_Mutation	SNP	A	TCGA-BR-8590-01A-11D-2394-08	32828396	212251754	30947619	20	64212											
CNTN6	27255	broad.mit.edu	37	chr3	1337371	1337371	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatctcaagagacgggaaacTtgtacattgccaaagtggaa	10	7	1	1	rs150338565	byFrequency	TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr3:1337371T>G	uc003boz.2	+	6	808	c.541T>G	c.(541-543)TTG>GTG	p.L181V	CNTN6_uc010hbo.2_Missense_Mutation_p.L176V|CNTN6_uc011asj.1_Missense_Mutation_p.L109V|CNTN6_uc003bpa.2_Missense_Mutation_p.L181V	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	181	Ig-like C2-type 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GACGGGAAACTTGTACATTGC	0.418													G	1337371	T	G	1337371	3	3	97	1	0	0	0	0	1	0	0	0	3645	1606	56	5	559	5	CNTN6	3	1337371	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08		1337371	196685059	21	64213											
ZNF385D	79750	broad.mit.edu	37	chr3	21552487	21552487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcttcttggcatgtttcGtgcctttgtagtgggccgca	13	9	1	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr3:21552487G>A	uc003cce.2	-	4	713	c.305C>T	c.(304-306)ACG>ATG	p.T102M	ZNF385D_uc010hfb.1_RNA	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	102	Matrin-type 1.					nucleus	nucleic acid binding|zinc ion binding	p.T102T(1)		large_intestine(2)|skin(2)|ovary(1)	5						GGCATGTTTCGTGCCTTTGTA	0.453													A	21552487	G	A	21552487	3	1	97	1	0	0	0	0	1	0	0	0	17875	1145	40	1	902	1	ZNF385D	3	21552487	Missense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08	20215116	21552487	176469943	22	64214											
SCN10A	6336	broad.mit.edu	37	chr3	38768457	38768457	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgtgccagggccacctgcagGttgttcacctccccatcgtc	10	17	1	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr3:38768457G>C	uc003ciq.2	-	16	2727	c.2727C>G	c.(2725-2727)AAC>AAG	p.N909K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	909					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCACCTGCAGGTTGTTCACCT	0.567													C	38768457	G	C	38768457	3	2	97	1	0	0	0	0	1	0	0	0	13912	1252	44	5	3191	5	SCN10A	3	38768457	Missense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08	17215970	38768457	159253973	23	64215											
ANO10	55129	broad.mit.edu	37	chr3	43642035	43642035	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attttctagtgtttcttgttCatatttatttaacaatggtc	5	5	3	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr3:43642035C>T	uc003cmv.2	-	3	349	c.178G>A	c.(178-180)GAA>AAA	p.E60K	ANO10_uc011azs.1_Missense_Mutation_p.E60K|ANO10_uc003cmw.2_Intron|ANO10_uc010hil.2_Missense_Mutation_p.E60K|ANO10_uc011azt.1_Intron	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	transmembrane protein 16K	60	Cytoplasmic (Potential).				cell death	chloride channel complex	chloride channel activity			ovary(2)	2						GTTTCTTGTTCATATTTATTT	0.333													T	43642035	C	T	43642035	3	4	97	1	0	0	0	0	1	0	0	0	696	835	29	4	1848	4	ANO10	3	43642035	Missense_Mutation	SNP	C	TCGA-BR-8590-01A-11D-2394-08	4873578	43642035	154380395	24	64216											
STAB1	23166	broad.mit.edu	37	chr3	52556627	52556627	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcccttatggtctgaacTtttcggaggctgaggcggca	15	10	1	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr3:52556627T>G	uc003dej.2	+	61	6741	c.6667T>G	c.(6667-6669)TTT>GTT	p.F2223V	STAB1_uc003dek.1_Missense_Mutation_p.F238V|STAB1_uc003del.2_Missense_Mutation_p.F110V	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	2223	Extracellular (Potential).|Link.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGGTCTGAACTTTTCGGAGGC	0.622													G	52556627	T	G	52556627	3	3	97	1	0	0	0	0	1	0	0	0	15236	1609	56	5	6909	5	STAB1	3	52556627	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	8914592	52556627	145465803	25	64217											
HESX1	8820	broad.mit.edu	37	chr3	57232457	57232457	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagattcaatttttgagctaAgtcttctctaatatcgatac	5	7	3	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr3:57232457A>T	uc003din.3	-	3	755	c.421T>A	c.(421-423)TTA>ATA	p.L141I		NM_003865	NP_003856	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	141	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		TTTTGAGCTAAGTCTTCTCTA	0.279													T	57232457	A	T	57232457	3	4	97	1	0	0	0	0	1	0	0	0	7072	69	3	5	144	5	HESX1	3	57232457	Missense_Mutation	SNP	A	TCGA-BR-8590-01A-11D-2394-08	4675830	57232457	140789973	26	64218											
SLCO2A1	6578	broad.mit.edu	37	chr3	133661595	133661595	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggatcccccggtcacacaGctgcagttcaaatagatctt	9	13	3	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr3:133661595G>A	uc003eqa.3	-	11	1753	c.1479C>T	c.(1477-1479)AGC>AGT	p.S493S	SLCO2A1_uc003eqb.3_Silent_p.S417S|SLCO2A1_uc011blv.1_Silent_p.S312S	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	493	Extracellular (Potential).|Kazal-like.				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1						CGGTCACACAGCTGCAGTTCA	0.527													A	133661595	G	A	133661595	2	1	97	1	0	0	0	0	0	0	0	1	14726	962	34	2		2	SLCO2A1	3	133661595	Silent	SNP	G	TCGA-BR-8590-01A-11D-2394-08	76429138	133661595	64360835	27	64219											
HRG	3273	broad.mit.edu	37	chr3	186383975	186383975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccttttccaattgctgcGgattgctgatgcccacttgg	9	12	0	1	rs115116898	byFrequency	TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr3:186383975G>A	uc003fqq.2	+	1	178	c.155G>A	c.(154-156)CGG>CAG	p.R52Q		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	52	Cystatin 1.|Interaction with ATP5A1.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CAATTGCTGCGGATTGCTGAT	0.537													A	186383975	G	A	186383975	3	1	97	1	0	0	0	0	1	0	0	0	7354	1116	39	1	157	1	HRG	3	186383975	Missense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08	52722380	186383975	11638455	28	64220											
ATP13A5	344905	broad.mit.edu	37	chr3	193002808	193002808	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtggtggtctcaaaacTtaaaattgaaccaggaatca	9	7	2	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr3:193002808T>C	uc011bsq.1	-	27	3121	c.3121A>G	c.(3121-3123)AGT>GGT	p.S1041G		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1041					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTCTCAAAACTTAAAATTGAA	0.393													C	193002808	T	C	193002808	3	2	97	1	0	0	0	0	1	0	0	0	1127	1609	56	3	549	3	ATP13A5	3	193002808	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	6618833	193002808	5019622	29	64221											
SH3TC1	54436	broad.mit.edu	37	chr4	8218729	8218729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccatgtgagagtgatgaCgggtccccgggatgcaggaa	15	10	0	3			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr4:8218729C>T	uc003gkv.3	+	7	775	c.674C>T	c.(673-675)ACG>ATG	p.T225M	SH3TC1_uc003gkw.3_Missense_Mutation_p.T149M|SH3TC1_uc003gkx.3_Intron	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	225							binding			large_intestine(2)|pancreas(1)	3						AGAGTGATGACGGGTCCCCGG	0.657													T	8218729	C	T	8218729	3	4	97	1	0	0	0	0	1	0	0	0	14261	536	19	1	696	1	SH3TC1	4	8218729	Missense_Mutation	SNP	C	TCGA-BR-8590-01A-11D-2394-08		8218729	182935547	30	64222											
WDR19	57728	broad.mit.edu	37	chr4	39216265	39216265	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttaaaagacatgtatgttaTactcaacctggatgaggaaa	8	6	1	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr4:39216265T>C	uc003gtv.2	+	10	1089	c.935T>C	c.(934-936)ATA>ACA	p.I312T	WDR19_uc010ifl.1_Missense_Mutation_p.I129T|WDR19_uc003gtu.1_Missense_Mutation_p.I312T|WDR19_uc011byi.1_Missense_Mutation_p.I152T|WDR19_uc003gtw.1_5'Flank	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	312					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						ATGTATGTTATACTCAACCTG	0.284													C	39216265	T	C	39216265	3	2	97	1	0	0	0	0	1	0	0	0	17276	1406	49	3	973	3	WDR19	4	39216265	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	30997536	39216265	151938011	31	64223											
GRXCR1	389207	broad.mit.edu	37	chr4	42895515	42895515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgagaatgagaatgaccagGatagcttgctggtgttagca	13	5	0	3			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr4:42895515G>A	uc003gwt.2	+	1	232	c.232G>A	c.(232-234)GAT>AAT	p.D78N		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	78					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1						GAATGACCAGGATAGCTTGCT	0.458													A	42895515	G	A	42895515	3	1	97	1	0	0	0	0	1	0	0	0	6812	1174	41	4	234	4	GRXCR1	4	42895515	Missense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08	3679250	42895515	148258761	32	64224											
NDST3	9348	broad.mit.edu	37	chr4	118975769	118975769	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctatcaaccagtaatatTtgccaaagtaaagaccccag	6	11	1	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr4:118975769T>G	uc003ibx.2	+	2	1107	c.704T>G	c.(703-705)TTT>TGT	p.F235C	NDST3_uc011cgf.1_Missense_Mutation_p.F235C|NDST3_uc003ibw.2_Missense_Mutation_p.F235C	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	235	Lumenal (Potential).|Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						CCAGTAATATTTGCCAAAGTA	0.388													G	118975769	T	G	118975769	3	3	97	1	0	0	0	0	1	0	0	0	10257	1841	64	5	706	5	NDST3	4	118975769	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	76080254	118975769	72178507	33	64225											
FAT4	79633	broad.mit.edu	37	chr4	126411185	126411185	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctgccgtggcccgaacaTttgtgccagcaacccctgct	11	15	0	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr4:126411185T>C	uc003ifj.3	+	17	13208	c.13208T>C	c.(13207-13209)ATT>ACT	p.I4403T	FAT4_uc011cgp.1_Missense_Mutation_p.I2644T|FAT4_uc003ifi.1_Missense_Mutation_p.I1880T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4403	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GGCCCGAACATTTGTGCCAGC	0.552													C	126411185	T	C	126411185	3	2	97	1	0	0	0	0	1	0	0	0	5692	1493	52	3	13274	3	FAT4	4	126411185	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	7435416	126411185	64743091	34	64226											
DCHS2	54798	broad.mit.edu	37	chr4	155253742	155253742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttgcctattaccccttgGggaacagggctctcttcgac	9	12	1	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr4:155253742G>A	uc003inw.2	-	9	2121	c.2121C>T	c.(2119-2121)CCC>CCT	p.P707P	DCHS2_uc003inx.2_Silent_p.P1206P	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	707	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTACCCCTTGGGGAACAGGGC	0.413													A	155253742	G	A	155253742	2	1	97	1	0	0	0	0	0	0	0	1	4288	1219	43	4		4	DCHS2	4	155253742	Silent	SNP	G	TCGA-BR-8590-01A-11D-2394-08	28842557	155253742	35900534	35	64227											
C4orf43	55319	broad.mit.edu	37	chr4	164440523	164440523	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaaattaccaaacattAaaatgagaaaaatttgcgct	6	5	0	3			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr4:164440523A>C	uc003iqq.3	+	7	750	c.469A>C	c.(469-471)AAA>CAA	p.K157Q		NM_018352	NP_060822	Q96EY4	CD043_HUMAN	hypothetical protein LOC55319	157											0						ACCAAACATTAAAATGAGAAA	0.353													C	164440523	A	C	164440523	3	2	97	1	0	0	0	0	1	0	0	0	2271	363	13	5	495	5	C4orf43	4	164440523	Missense_Mutation	SNP	A	TCGA-BR-8590-01A-11D-2394-08	9186781	164440523	26713753	36	64228											
AGXT2	64902	broad.mit.edu	37	chr5	35010216	35010216	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaacatgtaggtcccaacTtcttgactgttttcctgtag	8	9	1	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:35010216T>C	uc003jjf.2	-	12	1306	c.1227A>G	c.(1225-1227)GAA>GAG	p.E409E	AGXT2_uc003jje.1_Silent_p.E62E|AGXT2_uc011com.1_Silent_p.E334E	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	alanine-glyoxylate aminotransferase 2 precursor	409					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(3)|skin(1)	4	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	AGGTCCCAACTTCTTGACTGT	0.403													C	35010216	T	C	35010216	2	2	97	1	0	0	0	0	0	0	0	1	405	1606	56	3		3	AGXT2	5	35010216	Silent	SNP	T	TCGA-BR-8590-01A-11D-2394-08		35010216	145905044	37	64229											
NIPBL	25836	broad.mit.edu	37	chr5	36955688	36955688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttggcttgtagggatgacaAtttggtttcacagcttgtcc	11	7	1	1	rs142703446	byFrequency	TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:36955688A>G	uc003jkl.3	+	3	678	c.179A>G	c.(178-180)AAT>AGT	p.N60S	NIPBL_uc003jkk.3_Missense_Mutation_p.N60S	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	60					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGGGATGACAATTTGGTTTCA	0.398													G	36955688	A	G	36955688	3	3	97	1	0	0	0	0	1	0	0	0	10428	101	4	3	185	3	NIPBL	5	36955688	Missense_Mutation	SNP	A	TCGA-BR-8590-01A-11D-2394-08	1945472	36955688	143959572	38	64230											
LIFR	3977	broad.mit.edu	37	chr5	38527391	38527391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccaactgataacaagaaCgggacctgtaataagaaatt	7	8	1	3	rs61751711	byFrequency	TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:38527391C>T	uc010ive.1	-	4	595	c.263G>A	c.(262-264)CGT>CAT	p.R88H	LIFR_uc003jli.2_Missense_Mutation_p.R88H	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	88	Extracellular (Potential).|Fibronectin type-III 1.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					ATAACAAGAACGGGACCTGTA	0.244			T	PLAG1	salivary adenoma								T	38527391	C	T	38527391	3	4	97	1	0	0	0	0	1	0	0	0	8780	536	19	1	3098	1	LIFR	5	38527391	Missense_Mutation	SNP	C	TCGA-BR-8590-01A-11D-2394-08	1571703	38527391	142387869	39	64231											
BDP1	55814	broad.mit.edu	37	chr5	70818194	70818194	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggctaagccaaatttgggAagagcacacagtaagaaaga	11	6	0	3			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:70818194A>C	uc003kbp.1	+	23	5333	c.5070A>C	c.(5068-5070)GGA>GGC	p.G1690G	BDP1_uc003kbo.2_Silent_p.G1690G|BDP1_uc003kbq.1_RNA	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1690					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CAAATTTGGGAAGAGCACACA	0.393													C	70818194	A	C	70818194	2	2	97	1	0	0	0	0	0	0	0	1	1395	233	9	5		5	BDP1	5	70818194	Silent	SNP	A	TCGA-BR-8590-01A-11D-2394-08	32290803	70818194	110097066	40	64232											
FOXD1	2297	broad.mit.edu	37	chr5	72743802	72743802	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tagtgatgagcgcgatatacGagtagggcggcttcaccagc	14	9	1	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:72743802G>C	uc003kcp.2	-	1	551	c.386C>G	c.(385-387)TCG>TGG	p.S129W		NM_004472	NP_004463	Q16676	FOXD1_HUMAN	forkhead box D1	129	Fork-head.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|metanephric capsule specification|negative regulation of transcription, DNA-dependent|neural crest cell migration|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		CGCGATATACGAGTAGGGCGG	0.458													C	72743802	G	C	72743802	3	2	97	1	0	0	0	0	1	0	0	0	5996	1059	37	5	1013	5	FOXD1	5	72743802	Missense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08	1925608	72743802	108171458	41	64233											
TIFAB	497189	broad.mit.edu	37	chr5	134785284	134785284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggatgtgccttcttctaCgcgaaccagcatctggatgc	11	12	3	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:134785284C>T	uc003law.3	-	2	547	c.346G>A	c.(346-348)GTA>ATA	p.V116I	C5orf20_uc003lav.2_5'Flank	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	TIFA-related protein TIFAB	116											0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCTTCTTCTACGCGAACCAGC	0.557													T	134785284	C	T	134785284	3	4	97	1	0	0	0	0	1	0	0	0	15892	536	19	1	143	1	TIFAB	5	134785284	Missense_Mutation	SNP	C	TCGA-BR-8590-01A-11D-2394-08	62041482	134785284	46129976	42	64234											
PCDHA8	56140	broad.mit.edu	37	chr5	140221669	140221669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtaagaatattcgaaaacGcagacaacggaacaacagtt	8	7	0	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:140221669G>A	uc003lhs.2	+	1	763	c.763G>A	c.(763-765)GCA>ACA	p.A255T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.A255T	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	255	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCGAAAACGCAGACAACGG	0.423													A	140221669	G	A	140221669	3	1	97	1	0	0	0	0	1	0	0	0	11530	1087	38	1	765	1	PCDHA8	5	140221669	Missense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08	5436385	140221669	40693591	43	64235											
PCDHA10	56139	broad.mit.edu	37	chr5	140236731	140236731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgctcaagtgggcacCgtcattgccctaatcagcgt	11	11	3	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:140236731C>T	uc003lhx.2	+	1	1098	c.1098C>T	c.(1096-1098)ACC>ACT	p.T366T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.T366T|PCDHA10_uc011dad.1_Silent_p.T366T	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	366	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTGGGCACCGTCATTGCCC	0.512													T	140236731	C	T	140236731	2	4	97	1	0	0	0	0	0	0	0	1	11520	639	23	1		1	PCDHA10	5	140236731	Silent	SNP	C	TCGA-BR-8590-01A-11D-2394-08	15062	140236731	40678529	44	64236											
PCDHB1	29930	broad.mit.edu	37	chr5	140431954	140431954	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gattgaccctcaaaatggagAagttcgactaagaggacccc	10	10	1	3			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:140431954A>T	uc003lik.1	+	1	976	c.899A>T	c.(898-900)GAA>GTA	p.E300V		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	300	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAAATGGAGAAGTTCGACTA	0.463													T	140431954	A	T	140431954	3	4	97	1	0	0	0	0	1	0	0	0	11534	246	9	5	901	5	PCDHB1	5	140431954	Missense_Mutation	SNP	A	TCGA-BR-8590-01A-11D-2394-08	195223	140431954	40483306	45	64237											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811824	140811824	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaacaccatccaaggggcaAgcctatcgtcctacgtgtcc	9	14	0	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:140811824A>G	uc003lkt.1	+	1	1667	c.1498A>G	c.(1498-1500)AGC>GGC	p.S500G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.S500G	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	500	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAGGGGCAAGCCTATCGTC	0.552													G	140811824	A	G	140811824	3	3	97	1	0	0	0	0	1	0	0	0	11553	72	3	3	1500	3	PCDHGA12	5	140811824	Missense_Mutation	SNP	A	TCGA-BR-8590-01A-11D-2394-08	379870	140811824	40103436	46	64238											
HTR4	3360	broad.mit.edu	37	chr5	147889386	147889386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccgactgaggcctgctctCggaggaggctcctgcccgtt	14	14	1	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:147889386C>T	uc003lpn.2	-	6	873	c.709G>A	c.(709-711)GAG>AAG	p.E237K	HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Missense_Mutation_p.E237K|HTR4_uc003lpj.1_Missense_Mutation_p.E237K|HTR4_uc003lpk.2_Missense_Mutation_p.E237K|HTR4_uc011dby.1_Missense_Mutation_p.E237K|HTR4_uc003lpl.2_Missense_Mutation_p.E251K|HTR4_uc003lpm.2_Missense_Mutation_p.E237K|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Missense_Mutation_p.E237K	NM_000870	NP_000861	Q13639	5HT4R_HUMAN	serotonin 5-HT4 receptor isoform b	237	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GGCCTGCTCTCGGAGGAGGCT	0.552													T	147889386	C	T	147889386	3	4	97	1	0	0	0	0	1	0	0	0	7449	893	31	1	761	1	HTR4	5	147889386	Missense_Mutation	SNP	C	TCGA-BR-8590-01A-11D-2394-08	7077562	147889386	33025874	47	64239											
ODZ2	57451	broad.mit.edu	37	chr5	167489111	167489111	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atagacagtggtgaagcagaAgttggtcggcgggtaacaca	15	6	0	3			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:167489111A>C	uc010jjd.2	+	7	1356	c.1356A>C	c.(1354-1356)GAA>GAC	p.E452D	ODZ2_uc003lzq.2_Missense_Mutation_p.E331D|ODZ2_uc003lzr.3_Missense_Mutation_p.E220D	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GTGAAGCAGAAGTTGGTCGGC	0.453													C	167489111	A	C	167489111	3	2	97	1	0	0	0	0	1	0	0	0	10835	69	3	5	1382	5	ODZ2	5	167489111	Missense_Mutation	SNP	A	TCGA-BR-8590-01A-11D-2394-08	19599725	167489111	13426149	48	64240											
CDHR2	54825	broad.mit.edu	37	chr5	176005434	176005434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacggtgagctgctggaccGggagagccaggccgtgtact	17	10	0	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:176005434G>A	uc003mem.1	+	16	1709	c.1643G>A	c.(1642-1644)CGG>CAG	p.R548Q	CDHR2_uc003men.1_Missense_Mutation_p.R548Q	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	548	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						CTGCTGGACCGGGAGAGCCAG	0.572													A	176005434	G	A	176005434	3	1	97	1	0	0	0	0	1	0	0	0	3119	1116	39	1	1701	1	CDHR2	5	176005434	Missense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08	8516323	176005434	4909826	49	64241											
SLC17A3	10786	broad.mit.edu	37	chr6	25861882	25861882	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgctgcagagtctgcttcGttcttgtggagggccccact	12	11	2	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr6:25861882G>A	uc003nfi.3	-	4	471	c.361C>T	c.(361-363)CGA>TGA	p.R121*	SLC17A3_uc003nfk.3_Nonsense_Mutation_p.R199*|SLC17A3_uc011djz.1_Nonsense_Mutation_p.R199*|SLC17A3_uc011dka.1_Nonsense_Mutation_p.R121*	NM_006632	NP_006623	O00476	NPT4_HUMAN	solute carrier family 17 (sodium phosphate),	121					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity				0						AGTCTGCTTCGTTCTTGTGGA	0.423													A	25861882	G	A	25861882	4	1	97	1	0	0	0	0	0	1	0	0	14418	1153	40	1	933	1	SLC17A3	6	25861882	Nonsense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08		25861882	145253185	50	64242											
ZFP57	346171	broad.mit.edu	37	chr6	29641029	29641030	+	Frame_Shift_Ins	INS	-	-	CTGGCTC													cactcctggtttccatccacINStggctcctggttttggtgta							TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr6:29641028_29641029A>ACTGGCTC	uc011dlw.2	-	3	1010_1011	c.859_860T>GAGCCAGT	c.(859-861)gtgfs	p.V287fs		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	203					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GTTTCCATCCACTGGCTCCTGG	0.554													CTGGCTC	29641030	-	CTGGCTC	29641029	7	5	97	1	0	1	1	0	0	0	0	0	17648	565	20	0	755	0	ZFP57	6	29641029	Frame_Shift_Ins	INS	-	TCGA-BR-8590-01A-11D-2394-08	3779147	29641029	141474038	51	64243											
ABCF1	23	broad.mit.edu	37	chr6	30551425	30551425	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctcatggcaaggagctgtTcgtcaatgcagacctgtaca	11	11	2	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr6:30551425T>C	uc003nql.2	+	11	1051	c.956T>C	c.(955-957)TTC>TCC	p.F319S	ABCF1_uc003nqk.2_Missense_Mutation_p.F320S|ABCF1_uc003nqm.2_Missense_Mutation_p.F281S|ABCF1_uc010jsb.2_Intron|MIR877_hsa-mir-877|MI0005561_5'Flank	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F, member 1	319	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			ovary(2)	2						AAGGAGCTGTTCGTCAATGCA	0.557													C	30551425	T	C	30551425	3	2	97	1	0	0	0	0	1	0	0	0	65	1783	62	3	998	3	ABCF1	6	30551425	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	910396	30551425	140563642	52	64244											
TAF8	129685	broad.mit.edu	37	chr6	42044976	42044976	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcccaagatccgcaggaagAagtgagttggaggctggggt	17	7	0	3			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr6:42044976A>T	uc003ors.2	+	8	948	c.919A>T	c.(919-921)AAG>TAG	p.K307*	TAF8_uc003ort.2_3'UTR|TAF8_uc003oru.1_3'UTR|TAF8_uc003orv.1_Nonsense_Mutation_p.K307*|TAF8_uc011dun.1_Nonsense_Mutation_p.K231*	NM_138572	NP_612639	Q7Z7C8	TAF8_HUMAN	TBP-associated factor 8	307	Nuclear localization signal (Potential).				cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding			ovary(1)	1	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			CCGCAGGAAGAAGTGAGTTGG	0.592													T	42044976	A	T	42044976	4	4	97	1	0	0	0	0	0	1	0	0	15531	260	9	5	949	5	TAF8	6	42044976	Nonsense_Mutation	SNP	A	TCGA-BR-8590-01A-11D-2394-08	11493551	42044976	129070091	53	64245											
HTR1B	3351	broad.mit.edu	37	chr6	78172330	78172330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatagaggtgaccgaggacGtggacccgggggagtcggtt	18	7	0	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr6:78172330G>A	uc003pil.1	-	1	791	c.791C>T	c.(790-792)ACG>ATG	p.T264M		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	264	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GACCGAGGACGTGGACCCGGG	0.597													A	78172330	G	A	78172330	3	1	97	1	0	0	0	0	1	0	0	0	7437	1145	40	1	385	1	HTR1B	6	78172330	Missense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08	36127354	78172330	92942737	54	64246											
NDUFAF4	29078	broad.mit.edu	37	chr6	97344625	97344625	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaacacacatttacctgcaAggaagacacaggatctttgg	8	9	1	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr6:97344625A>G	uc003pow.2	-	2	325	c.235T>C	c.(235-237)TTG>CTG	p.L79L	NDUFAF4_uc003pov.2_RNA	NM_014165	NP_054884	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	79					mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding			ovary(1)	1						TTTACCTGCAAGGAAGACACA	0.363													G	97344625	A	G	97344625	2	3	97	1	0	0	0	0	0	0	0	1	10277	69	3	3		3	NDUFAF4	6	97344625	Silent	SNP	A	TCGA-BR-8590-01A-11D-2394-08	19172295	97344625	73770442	55	64247											
ROS1	6098	broad.mit.edu	37	chr6	117631255	117631255	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaacttaccatacatcagaTtgagtagtgaagattccatc	6	8	1	4			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr6:117631255T>G	uc003pxp.1	-	40	6622	c.6423A>C	c.(6421-6423)CAA>CAC	p.Q2141H	ROS1_uc011ebi.1_RNA	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	2141	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATACATCAGATTGAGTAGTGA	0.299			T	GOPC|ROS1	glioblastoma|NSCLC								G	117631255	T	G	117631255	3	3	97	1	0	0	0	0	1	0	0	0	13531	1490	52	5	636	5	ROS1	6	117631255	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	20286630	117631255	53483812	56	64248											
TIAM2	26230	broad.mit.edu	37	chr6	155458563	155458563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaaacatctacagaaaccGccgagtccagcagcgagtca	9	12	2	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr6:155458563G>A	uc003qqb.2	+	7	2720	c.1447G>A	c.(1447-1449)GCC>ACC	p.A483T	TIAM2_uc003qqe.2_Missense_Mutation_p.A483T|TIAM2_uc010kjj.2_Missense_Mutation_p.A16T	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	483					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TACAGAAACCGCCGAGTCCAG	0.527													A	155458563	G	A	155458563	3	1	97	1	0	0	0	0	1	0	0	0	15888	1087	38	1	1453	1	TIAM2	6	155458563	Missense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08	37827308	155458563	15656504	57	64249											
SUN1	23353	broad.mit.edu	37	chr7	905675	905675	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgggatcccgctgtggtacTtctcgcagtccccgcgcgtg	13	14	1	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr7:905675T>C	uc011jvp.1	+	17	2030	c.1951T>C	c.(1951-1953)TTC>CTC	p.F651L	GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.F568L|SUN1_uc011jvq.1_Missense_Mutation_p.F548L|SUN1_uc003sjg.2_Missense_Mutation_p.F556L|SUN1_uc011jvr.1_Missense_Mutation_p.F449L|SUN1_uc003sji.2_Missense_Mutation_p.F489L|SUN1_uc003sjk.2_Missense_Mutation_p.F290L	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	678	Perinuclear space.|SUN.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						GCTGTGGTACTTCTCGCAGTC	0.562													C	905675	T	C	905675	3	2	97	1	0	0	0	0	1	0	0	0	15388	1609	56	3	2196	3	SUN1	7	905675	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08		905675	158232988	58	64250											
RELN	5649	broad.mit.edu	37	chr7	103338436	103338436	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcaggcttcatacacttcaCctacacgaagattttcctgc	6	13	2	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr7:103338436C>G	uc003vca.2	-	10	1167	c.1007G>C	c.(1006-1008)GGT>GCT	p.G336A	RELN_uc010liz.2_Missense_Mutation_p.G336A	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	336					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATACACTTCACCTACACGAAG	0.458													G	103338436	C	G	103338436	3	3	97	1	0	0	0	0	1	0	0	0	13220	507	18	5	9599	5	RELN	7	103338436	Missense_Mutation	SNP	C	TCGA-BR-8590-01A-11D-2394-08	102432761	103338436	55800227	59	64251											
FOXP2	93986	broad.mit.edu	37	chr7	114298186	114298186	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acatccccacagagcttaccTcaaacccctaccacaccaac	2	20	1	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr7:114298186T>G	uc003vhb.2	+	11	1706	c.1332T>G	c.(1330-1332)CCT>CCG	p.P444P	FOXP2_uc003vgu.2_Intron|FOXP2_uc003vgz.2_Silent_p.P469P|FOXP2_uc003vha.2_Silent_p.P352P|FOXP2_uc011kmu.1_Silent_p.P461P|FOXP2_uc011kmv.1_Silent_p.P443P|FOXP2_uc010ljz.1_Intron|FOXP2_uc003vhe.1_Silent_p.P14P	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	444					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						AGAGCTTACCTCAAACCCCTA	0.542													G	114298186	T	G	114298186	2	3	97	1	0	0	0	0	0	0	0	1	6027	1538	54	5		5	FOXP2	7	114298186	Silent	SNP	T	TCGA-BR-8590-01A-11D-2394-08	10959750	114298186	44840477	60	64252											
ESYT2	57488	broad.mit.edu	37	chr7	158531733	158531733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaggcatgcacgaccaCgataagcttgtttctctgcg	10	13	1	0	rs145877575		TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr7:158531733C>T	uc003wob.1	-	18	2395	c.2329G>A	c.(2329-2331)GTG>ATG	p.V777M	ESYT2_uc003wny.1_RNA|ESYT2_uc003wnz.1_Missense_Mutation_p.V216M|ESYT2_uc003woa.1_Missense_Mutation_p.V354M	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain	805	C2 3.					integral to membrane|plasma membrane				central_nervous_system(2)|kidney(1)	3						TGCACGACCACGATAAGCTTG	0.607													T	158531733	C	T	158531733	3	4	97	1	0	0	0	0	1	0	0	0	5265	536	19	1	372	1	ESYT2	7	158531733	Missense_Mutation	SNP	C	TCGA-BR-8590-01A-11D-2394-08	44233547	158531733	606930	61	64253											
KIAA1967	57805	broad.mit.edu	37	chr8	22473260	22473260	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagacacttctagacggaaCgcagaaactccagaggccac	10	13	1	4	rs151294361	byFrequency	TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr8:22473260C>T	uc003xch.2	+	13	1580	c.1443C>T	c.(1441-1443)AAC>AAT	p.N481N	KIAA1967_uc003xci.2_Silent_p.N481N|KIAA1967_uc003xcj.1_Silent_p.N150N	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	481					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CTAGACGGAACGCAGAAACTC	0.587													T	22473260	C	T	22473260	2	4	97	1	0	0	0	0	0	0	0	1	8265	535	19	1		1	KIAA1967	8	22473260	Silent	SNP	C	TCGA-BR-8590-01A-11D-2394-08		22473260	123890762	62	64254											
CSMD3	114788	broad.mit.edu	37	chr8	114290851	114290851	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccttaaatccatgagcacTaactgcaaaatcactggtca	5	11	2	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr8:114290851T>C	uc003ynu.2	-	3	643	c.484A>G	c.(484-486)AGT>GGT	p.S162G	CSMD3_uc003ynt.2_Missense_Mutation_p.S122G|CSMD3_uc011lhx.1_Missense_Mutation_p.S162G|CSMD3_uc010mcx.1_Missense_Mutation_p.S162G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	162	Extracellular (Potential).|CUB 1.					integral to membrane|plasma membrane		p.S162N(1)		ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCATGAGCACTAACTGCAAAA	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	114290851	T	C	114290851	3	2	97	1	0	0	0	0	1	0	0	0	3946	1522	53	3	10915	3	CSMD3	8	114290851	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	91817591	114290851	32073171	63	64255											
PLEC	5339	broad.mit.edu	37	chr8	144997872	144997873	+	Frame_Shift_Del	DEL	CA	CA	-													tcgccgcgcagctggtccagCacgctctgctcctgctgcag							TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr8:144997872_144997873delCA	uc003zaf.1	-	31	6805_6806	c.6635_6636delTG	c.(6634-6636)GTGfs	p.V2212fs	PLEC_uc003zab.1_Frame_Shift_Del_p.V2075fs|PLEC_uc003zac.1_Frame_Shift_Del_p.V2079fs|PLEC_uc003zad.2_Frame_Shift_Del_p.V2075fs|PLEC_uc003zae.1_Frame_Shift_Del_p.V2043fs|PLEC_uc003zag.1_Frame_Shift_Del_p.V2053fs|PLEC_uc003zah.2_Frame_Shift_Del_p.V2061fs|PLEC_uc003zaj.2_Frame_Shift_Del_p.V2102fs	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2212	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCTGGTCCAGCACGCTctgctc	0.599													-	144997873	CA	-	144997872	7	5	97	1	0	1	0	1	0	0	0	0	12052	697	25	0	7426	0	PLEC	8	144997872	Frame_Shift_Del	DEL	CA	TCGA-BR-8590-01A-11D-2394-08	30707021	144997872	1366150	64	64256											
GPAA1	8733	broad.mit.edu	37	chr8	145139460	145139460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggaggccctaaccctgCgtggcatcaatagcttccgc	12	13	1	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr8:145139460C>T	uc003zax.2	+	7	1068	c.958C>T	c.(958-960)CGT>TGT	p.R320C	GPAA1_uc003zav.1_Missense_Mutation_p.R198C|GPAA1_uc003zaw.1_Missense_Mutation_p.R260C	NM_003801	NP_003792	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment	320	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTAACCCTGCGTGGCATCAA	0.627													T	145139460	C	T	145139460	3	4	97	1	0	0	0	0	1	0	0	0	6587	768	27	1	984	1	GPAA1	8	145139460	Missense_Mutation	SNP	C	TCGA-BR-8590-01A-11D-2394-08	141588	145139460	1224562	65	64257											
TEK	7010	broad.mit.edu	37	chr9	27172728	27172728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgccctcctgggtttatggGaaggacgtgtgagaagggta	16	6	0	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr9:27172728G>A	uc003zqi.3	+	5	1185	c.743G>A	c.(742-744)GGA>GAA	p.G248E	TEK_uc010mjc.1_Missense_Mutation_p.G101E|TEK_uc011lnn.1_Missense_Mutation_p.G248E|TEK_uc011lno.1_Missense_Mutation_p.G248E|TEK_uc011lnp.1_Missense_Mutation_p.G144E|TEK_uc003zqj.1_Missense_Mutation_p.G225E	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	248	Extracellular (Potential).|EGF-like 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GGGTTTATGGGAAGGACGTGT	0.433													A	27172728	G	A	27172728	3	1	97	1	0	0	0	0	1	0	0	0	15748	1174	41	4	761	4	TEK	9	27172728	Missense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08		27172728	114040703	66	64258											
ZMYND19	116225	broad.mit.edu	37	chr9	140477600	140477600	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgaattgcaagccaAtacaagctttgctcccttaa	7	11	0	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr9:140477600A>C	uc004cno.1	-	5	597	c.375T>G	c.(373-375)TAT>TAG	p.Y125*		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	zinc finger, MYND domain containing 19	125						Golgi apparatus|plasma membrane	zinc ion binding			skin(1)	1	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		TTGCAAGCCAATACAAGCTTT	0.488													C	140477600	A	C	140477600	4	2	97	1	0	0	0	0	0	1	0	0	17707	108	4	5	316	5	ZMYND19	9	140477600	Nonsense_Mutation	SNP	A	TCGA-BR-8590-01A-11D-2394-08	113304872	140477600	735831	67	64259											
C10orf18	54906	broad.mit.edu	37	chr10	5769036	5769036	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatagattttggaggcaAgcagatgggtctgcatgggt	15	6	1	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr10:5769036A>G	uc001iij.2	+	10	1062	c.437A>G	c.(436-438)AAG>AGG	p.K146R		NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	146										ovary(1)|central_nervous_system(1)	2						TTTGGAGGCAAGCAGATGGGT	0.284													G	5769036	A	G	5769036	3	3	97	1	0	0	0	0	1	0	0	0	1596	72	3	3	463	3	C10orf18	10	5769036	Missense_Mutation	SNP	A	TCGA-BR-8590-01A-11D-2394-08		5769036	129765711	68	64260											
CACNB2	783	broad.mit.edu	37	chr10	18828261	18828261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcaagaaatcccagcacCgctcttcctcctcagcccca	5	19	3	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr10:18828261C>T	uc001ipr.2	+	14	1651	c.1591C>T	c.(1591-1593)CGC>TGC	p.R531C	CACNB2_uc009xjz.1_Missense_Mutation_p.R281C|CACNB2_uc001ips.2_Missense_Mutation_p.R507C|CACNB2_uc001ipt.2_Missense_Mutation_p.R493C|CACNB2_uc001ipu.2_Missense_Mutation_p.R503C|CACNB2_uc001ipv.2_Missense_Mutation_p.R479C|CACNB2_uc009xka.1_Missense_Mutation_p.R465C|CACNB2_uc001ipw.2_Missense_Mutation_p.R438C|CACNB2_uc001ipx.2_Missense_Mutation_p.R476C|CACNB2_uc001ipz.2_Missense_Mutation_p.R453C|CACNB2_uc001ipy.2_Missense_Mutation_p.R477C|CACNB2_uc010qco.1_Missense_Mutation_p.R445C|CACNB2_uc001iqa.2_Missense_Mutation_p.R483C|NSUN6_uc001iqb.2_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	531					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATCCCAGCACCGCTCTTCCTC	0.552													T	18828261	C	T	18828261	3	4	97	1	0	0	0	0	1	0	0	0	2553	652	23	1	1955	1	CACNB2	10	18828261	Missense_Mutation	SNP	C	TCGA-BR-8590-01A-11D-2394-08	13059225	18828261	116706486	69	64261											
MYO3A	53904	broad.mit.edu	37	chr10	26243904	26243904	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatactttaagaaggataaAgtaaatggagacaagctgtg	10	3	0	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr10:26243904A>C	uc001isn.2	+	4	630	c.270A>C	c.(268-270)AAA>AAC	p.K90N	MYO3A_uc009xko.1_Missense_Mutation_p.K90N|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.K90N|MYO3A_uc001ism.2_Missense_Mutation_p.K90N	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	90	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						AGAAGGATAAAGTAAATGGAG	0.373													C	26243904	A	C	26243904	3	2	97	1	0	0	0	0	1	0	0	0	10076	69	3	5	276	5	MYO3A	10	26243904	Missense_Mutation	SNP	A	TCGA-BR-8590-01A-11D-2394-08	7415643	26243904	109290843	70	64262											
PCDH15	65217	broad.mit.edu	37	chr10	55996686	55996686	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaacaataatggggttcagTtcttcctgaaaaaaaaatta	7	5	2	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr10:55996686T>G	uc001jju.1	-	9	1277	c.882A>C	c.(880-882)GAA>GAC	p.E294D	PCDH15_uc010qhq.1_Missense_Mutation_p.E299D|PCDH15_uc010qhr.1_Missense_Mutation_p.E294D|PCDH15_uc010qhs.1_Missense_Mutation_p.E299D|PCDH15_uc010qht.1_Missense_Mutation_p.E294D|PCDH15_uc010qhu.1_Missense_Mutation_p.E294D|PCDH15_uc001jjv.1_Missense_Mutation_p.E272D|PCDH15_uc010qhv.1_Missense_Mutation_p.E294D|PCDH15_uc010qhw.1_Missense_Mutation_p.E257D|PCDH15_uc010qhx.1_Missense_Mutation_p.E294D|PCDH15_uc010qhy.1_Missense_Mutation_p.E299D|PCDH15_uc010qhz.1_Missense_Mutation_p.E294D|PCDH15_uc010qia.1_Missense_Mutation_p.E272D|PCDH15_uc010qib.1_Missense_Mutation_p.E272D|PCDH15_uc001jjw.2_Missense_Mutation_p.E294D	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	294	Cadherin 3.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGGGTTCAGTTCTTCCTGAA	0.398										HNSCC(58;0.16)			G	55996686	T	G	55996686	3	3	97	1	0	0	0	0	1	0	0	0	11511	1722	60	5	6729	5	PCDH15	10	55996686	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	29752782	55996686	79538061	71	64263											
KIAA1279	26128	broad.mit.edu	37	chr10	70765585	70765585	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcactattgccatagtacaCtaaaacgccagcttgagcac	6	13	1	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr10:70765585C>A	uc001joy.2	+	4	799	c.703C>A	c.(703-705)CTA>ATA	p.L235I		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	KIF1 binding protein	235					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			ovary(1)	1						CCATAGTACACTAAAACGCCA	0.403													A	70765585	C	A	70765585	3	1	97	1	0	0	0	0	1	0	0	0	8221	564	20	5	717	5	KIAA1279	10	70765585	Missense_Mutation	SNP	C	TCGA-BR-8590-01A-11D-2394-08	14768899	70765585	64769162	72	64264											
IFIT1B	439996	broad.mit.edu	37	chr10	91143418	91143418	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agattggcagaagcccagacTtacctggacaaggtggagaa	13	8	0	4			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr10:91143418T>G	uc001kgh.2	+	2	428	c.348T>G	c.(346-348)ACT>ACG	p.T116T	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	interferon-induced protein with	116	TPR 2.						binding				0						AAGCCCAGACTTACCTGGACA	0.502													G	91143418	T	G	91143418	2	3	97	1	0	0	0	0	0	0	0	1	7522	1596	56	5		5	IFIT1B	10	91143418	Silent	SNP	T	TCGA-BR-8590-01A-11D-2394-08	20377833	91143418	44391329	73	64265											
OR52K1	390036	broad.mit.edu	37	chr11	4510347	4510347	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccatgttggcaaccattgacTtggttctttcttctacaacg	7	11	3	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr11:4510347T>A	uc001lza.1	+	1	217	c.217T>A	c.(217-219)TTG>ATG	p.L73M		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	73	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		AACCATTGACTTGGTTCTTTC	0.493													A	4510347	T	A	4510347	3	1	97	1	0	0	0	0	1	0	0	0	11123	1606	56	5	219	5	OR52K1	11	4510347	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08		4510347	130496169	74	64266											
OR51A7	119687	broad.mit.edu	37	chr11	4928970	4928970	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgtctttggaccgctttcTtgccattcacaatcccttaa	5	12	3	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr11:4928970T>G	uc010qyq.1	+	1	371	c.371T>G	c.(370-372)CTT>CGT	p.L124R		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACCGCTTTCTTGCCATTCAC	0.393													G	4928970	T	G	4928970	3	3	97	1	0	0	0	0	1	0	0	0	11088	1609	56	5	373	5	OR51A7	11	4928970	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	418623	4928970	130077546	75	64267											
OR5P3	120066	broad.mit.edu	37	chr11	7847027	7847027	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcccacagaaggacagtcTtaataagcagccaatgaatg	10	9	1	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr11:7847027T>C	uc010rbg.1	-	1	493	c.493A>G	c.(493-495)AGA>GGA	p.R165G		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P,	165	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGGACAGTCTTAATAAGCAG	0.423													C	7847027	T	C	7847027	3	2	97	1	0	0	0	0	1	0	0	0	11179	1617	56	3	445	3	OR5P3	11	7847027	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	2918057	7847027	127159489	76	64268											
OR4C11	219429	broad.mit.edu	37	chr11	55371158	55371158	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcggagagagcctttttcTtccctttggcactgtggttt	11	9	1	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr11:55371158T>G	uc010rii.1	-	1	692	c.692A>C	c.(691-693)AAG>ACG	p.K231T		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AGCCTTTTTCTTCCCTTTGGC	0.418													G	55371158	T	G	55371158	3	3	97	1	0	0	0	0	1	0	0	0	11045	1609	56	5	242	5	OR4C11	11	55371158	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	47524131	55371158	79635358	77	64269											
OR4C11	219429	broad.mit.edu	37	chr11	55371231	55371231	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcaaaatcatgaaactacTtgagcaaattgccccactgt	5	10	2	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr11:55371231T>G	uc010rii.1	-	1	619	c.619A>C	c.(619-621)AGT>CGT	p.S207R		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	207	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ATGAAACTACTTGAGCAAATT	0.423													G	55371231	T	G	55371231	3	3	97	1	0	0	0	0	1	0	0	0	11045	1609	56	5	315	5	OR4C11	11	55371231	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	73	55371231	79635285	78	64270											
SLC22A10	387775	broad.mit.edu	37	chr11	63129941	63129941	+	RNA	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaaagctgcatgctggaataGaatgaagaatgctggagaca	12	5	0	4	rs148177936	by1000genomes	TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr11:63129941G>C	uc010rmo.1	+	9		c.1063G>C						Q63ZE4	S22AA_HUMAN	Homo sapiens mRNA for putative protein product of HMFN2567, complete cds.							integral to membrane	transmembrane transporter activity			ovary(2)	2						TGCTGGAATAGAATGAAGAAT	0.448													C	63129941	G	C	63129941	1	2	97	0	1	0	0	0	0	0	0	0	14441	957	33	5		5	SLC22A10	11	63129941	RNA	SNP	G	TCGA-BR-8590-01A-11D-2394-08	7758710	63129941	71876575	79	64271											
LRP5	4041	broad.mit.edu	37	chr11	68115710	68115710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccttggaccccgctcacGggtaaaccctgctgcgactc	10	17	1	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr11:68115710G>A	uc001ont.2	+	2	562	c.487G>A	c.(487-489)GGG>AGG	p.G163R	LRP5_uc009ysg.2_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	163	Beta-propeller 1.|LDL-receptor class B 3.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CCCCGCTCACGGGTAAACCCT	0.597													A	68115710	G	A	68115710	3	1	97	1	0	0	0	0	1	0	0	0	8960	1130	39	1	493	1	LRP5	11	68115710	Missense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08	4985769	68115710	66890806	80	64272											
YAP1	10413	broad.mit.edu	37	chr11	101985013	101985013	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtctctggcccagcagctAcacccacagctcagcatctt	7	16	3	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr11:101985013A>G	uc001pgt.2	+	2	830	c.460A>G	c.(460-462)ACA>GCA	p.T154A	YAP1_uc001pgs.2_Missense_Mutation_p.T154A|YAP1_uc001pgu.2_Missense_Mutation_p.T154A|YAP1_uc001pgv.2_Missense_Mutation_p.T154A|YAP1_uc010ruo.1_5'UTR|YAP1_uc001pgw.2_5'UTR	NM_001130145	NP_001123617	P46937	YAP1_HUMAN	Yes-associated protein 1, 65kDa isoform 1	154					cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		CCCAGCAGCTACACCCACAGC	0.532													G	101985013	A	G	101985013	3	3	97	1	0	0	0	0	1	0	0	0	17463	391	14	3	466	3	YAP1	11	101985013	Missense_Mutation	SNP	A	TCGA-BR-8590-01A-11D-2394-08	33869303	101985013	33021503	81	64273											
MLL	4297	broad.mit.edu	37	chr11	118375060	118375060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagtccacacaagtacccCctccgacaaaaatttactgg	6	14	0	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr11:118375060C>T	uc001pta.2	+	27	8467	c.8444C>T	c.(8443-8445)CCC>CTC	p.P2815L	MLL_uc001ptb.2_Missense_Mutation_p.P2818L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2815					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		ACAAGTACCCCCTCCGACAAA	0.453			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								T	118375060	C	T	118375060	3	4	97	1	0	0	0	0	1	0	0	0	9620	623	22	4	8550	4	MLL	11	118375060	Missense_Mutation	SNP	C	TCGA-BR-8590-01A-11D-2394-08	16390047	118375060	16631456	82	64274											
STYK1	55359	broad.mit.edu	37	chr12	10775239	10775239	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttggggctcatccttacctAgagtcaccatctcatagagc	8	12	3	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr12:10775239A>G	uc001qys.2	-	9	1486	c.965T>C	c.(964-966)CTA>CCA	p.L322P		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	322	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						ATCCTTACCTAGAGTCACCAT	0.383										HNSCC(73;0.22)			G	10775239	A	G	10775239	3	3	97	1	0	0	0	0	1	0	0	0	15358	420	15	3	315	3	STYK1	12	10775239	Missense_Mutation	SNP	A	TCGA-BR-8590-01A-11D-2394-08		10775239	123076656	83	64275											
ABCC9	10060	broad.mit.edu	37	chr12	22025613	22025613	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcaccgaggatggcaaggAgaagagaggacttcccacat	12	10	1	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr12:22025613A>G	uc001rfi.1	-	16	2164	c.2144T>C	c.(2143-2145)CTC>CCC	p.L715P	ABCC9_uc001rfh.2_Missense_Mutation_p.L715P|ABCC9_uc001rfj.1_Missense_Mutation_p.L679P	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	715	Cytoplasmic (Potential).|ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GATGGCAAGGAGAAGAGAGGA	0.423													G	22025613	A	G	22025613	3	3	97	1	0	0	0	0	1	0	0	0	59	304	11	3	2739	3	ABCC9	12	22025613	Missense_Mutation	SNP	A	TCGA-BR-8590-01A-11D-2394-08	11250374	22025613	111826282	84	64276											
LRRK2	120892	broad.mit.edu	37	chr12	40699659	40699659	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaacttggaactaagatccTttcccaatgaaatggggaaa	8	8	0	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr12:40699659T>G	uc001rmg.3	+	28	3971	c.3850T>G	c.(3850-3852)TTT>GTT	p.F1284V	LRRK2_uc009zjw.2_Missense_Mutation_p.F122V|LRRK2_uc001rmi.2_Missense_Mutation_p.F117V	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1284	LRR 12.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACTAAGATCCTTTCCCAATGA	0.363													G	40699659	T	G	40699659	3	3	97	1	0	0	0	0	1	0	0	0	9033	1609	56	5	3960	5	LRRK2	12	40699659	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	18674046	40699659	93152236	85	64277											
MLL2	8085	broad.mit.edu	37	chr12	49445717	49445717	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgggtgactcttcaggtggAggggacatgggtgactcctc	16	8	2	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr12:49445717A>C	uc001rta.3	-	10	1749	c.1749T>G	c.(1747-1749)CCT>CCG	p.P583P		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	583	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.|10.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CTTCAGGTGGAGGGGACATGG	0.592			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			C	49445717	A	C	49445717	2	2	97	1	0	0	0	0	0	0	0	1	9621	291	11	5		5	MLL2	12	49445717	Silent	SNP	A	TCGA-BR-8590-01A-11D-2394-08	8746058	49445717	84406178	86	64278											
KRT73	319101	broad.mit.edu	37	chr12	53010025	53010025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccctgtccccagacagcGtctccagctgcttccgcagg	9	18	2	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr12:53010025G>A	uc001sas.2	-	2	622	c.587C>T	c.(586-588)ACG>ATG	p.T196M		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	196	Coil 1B.|Rod.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCAGACAGCGTCTCCAGCTG	0.597													A	53010025	G	A	53010025	3	1	97	1	0	0	0	0	1	0	0	0	8486	1145	40	1	1067	1	KRT73	12	53010025	Missense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08	3564308	53010025	80841870	87	64279											
KRT1	3848	broad.mit.edu	37	chr12	53072332	53072332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagggtcccttacttgttcCggtaatcctccaccatgtcc	7	15	0	0	rs60359468		TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr12:53072332C>T	uc001sau.1	-	2	859	c.800G>A	c.(799-801)CGG>CAG	p.R267Q	KRT1_uc001sav.1_Missense_Mutation_p.R267Q	NM_006121	NP_006112	P04264	K2C1_HUMAN	keratin 1	267	Coil 1B.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			ovary(1)|skin(1)	2						TTACTTGTTCCGGTAATCCTC	0.443													T	53072332	C	T	53072332	3	4	97	1	0	0	0	0	1	0	0	0	8447	652	23	1	1166	1	KRT1	12	53072332	Missense_Mutation	SNP	C	TCGA-BR-8590-01A-11D-2394-08	62307	53072332	80779563	88	64280											
LRP1	4035	broad.mit.edu	37	chr12	57560825	57560825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctctgatgagtctgcttcGtgtggtaagagggatgggca	16	7	2	3	rs78054559	byFrequency	TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr12:57560825G>A	uc001snd.2	+	18	3376	c.2910G>A	c.(2908-2910)TCG>TCA	p.S970S	LRP1_uc009zph.1_5'Flank|LRP1_uc009zpi.1_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	970	LDL-receptor class A 5.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.S970L(1)		ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGTCTGCTTCGTGTGGTAAGA	0.637													A	57560825	G	A	57560825	2	1	97	1	0	0	0	0	0	0	0	1	8951	1132	40	1		1	LRP1	12	57560825	Silent	SNP	G	TCGA-BR-8590-01A-11D-2394-08	4488493	57560825	76291070	89	64281											
SLC26A10	65012	broad.mit.edu	37	chr12	58019453	58019453	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgcaggatgcagctgcTtatgccctggggagcctgtt	15	9	0	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr12:58019453T>G	uc001spe.2	+	14	1928	c.1617T>G	c.(1615-1617)GCT>GCG	p.A539A	SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_Intron	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	539	STAS.					integral to membrane	antiporter activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(17;0.122)					ATGCAGCTGCTTATGCCCTGG	0.627													G	58019453	T	G	58019453	2	3	97	1	0	0	0	0	0	0	0	1	14515	1596	56	5		5	SLC26A10	12	58019453	Silent	SNP	T	TCGA-BR-8590-01A-11D-2394-08	458628	58019453	75832442	90	64282											
OAS2	4939	broad.mit.edu	37	chr12	113442842	113442842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcccaaaaaaacgagcGgcacaaaatcgtcaaggaaa	7	12	1	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr12:113442842G>A	uc001tuj.2	+	7	1423	c.1283G>A	c.(1282-1284)CGG>CAG	p.R428Q	OAS2_uc001tui.1_Missense_Mutation_p.R428Q	NM_016817	NP_058197	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2 isoform 1	428	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(1)	1						AAAAACGAGCGGCACAAAATC	0.502													A	113442842	G	A	113442842	3	1	97	1	0	0	0	0	1	0	0	0	10800	1116	39	1	1380	1	OAS2	12	113442842	Missense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08	55423389	113442842	20409053	91	64283											
DDX54	79039	broad.mit.edu	37	chr12	113603716	113603716	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactgctgctgggcgttatcAgcaacgcgggccaggccccg	14	14	1	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr12:113603716A>G	uc001tup.2	-	13	1564	c.1536T>C	c.(1534-1536)GCT>GCC	p.A512A	DDX54_uc001tuq.3_Silent_p.A512A	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	512					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						GGGCGTTATCAGCAACGCGGG	0.667													G	113603716	A	G	113603716	2	3	97	1	0	0	0	0	0	0	0	1	4372	175	7	3		3	DDX54	12	113603716	Silent	SNP	A	TCGA-BR-8590-01A-11D-2394-08	160874	113603716	20248179	92	64284											
KDM2B	84678	broad.mit.edu	37	chr12	122016842	122016842	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcgtcgtatcgctggcggtCaatcgggcgctgcgaggacc	15	13	1	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr12:122016842C>A	uc001uat.2	-	2	240	c.136G>T	c.(136-138)GAC>TAC	p.D46Y	KDM2B_uc001uas.2_Missense_Mutation_p.D15Y|KDM2B_uc001uau.2_5'UTR|KDM2B_uc001uav.3_Missense_Mutation_p.D46Y	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	46					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						CGCTGGCGGTCAATCGGGCGC	0.627													A	122016842	C	A	122016842	3	1	97	1	0	0	0	0	1	0	0	0	8125	826	29	5	4014	5	KDM2B	12	122016842	Missense_Mutation	SNP	C	TCGA-BR-8590-01A-11D-2394-08	8413126	122016842	11835053	93	64285											
MBNL2	10150	broad.mit.edu	37	chr13	97999166	97999166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtgacaacaccgtaaccGtttgtatggattacataaag	8	8	0	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr13:97999166G>A	uc010aft.2	+	5	1465	c.649G>A	c.(649-651)GTT>ATT	p.V217I	MBNL2_uc001vmz.2_Missense_Mutation_p.V217I|MBNL2_uc001vna.2_Missense_Mutation_p.V217I|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Intron|MBNL2_uc001vnc.2_5'Flank	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	muscleblind-like 2 isoform 1	217	C3H1-type 4.				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding				0	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CACCGTAACCGTTTGTATGGA	0.532													A	97999166	G	A	97999166	3	1	97	1	0	0	0	0	1	0	0	0	9354	1145	40	1	663	1	MBNL2	13	97999166	Missense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08		97999166	17170712	94	64286											
NALCN	259232	broad.mit.edu	37	chr13	101742293	101742293	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atagcgtttcccacattgtcGaaattaaagttccgaggatt	8	8	0	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr13:101742293G>A	uc001vox.1	-	29	3483	c.3294C>T	c.(3292-3294)TTC>TTT	p.F1098F		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1098	Extracellular (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCACATTGTCGAAATTAAAGT	0.463													A	101742293	G	A	101742293	2	1	97	1	0	0	0	0	0	0	0	1	10148	1049	37	1		1	NALCN	13	101742293	Silent	SNP	G	TCGA-BR-8590-01A-11D-2394-08	3743127	101742293	13427585	95	64287											
FLRT2	23768	broad.mit.edu	37	chr14	86087927	86087927	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagtcttggcttatcatttcCctggggctctactcacaggt	9	11	4	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr14:86087927C>A	uc001xvr.2	+	2	836	c.69C>A	c.(67-69)TCC>TCA	p.S23S	FLRT2_uc010atd.2_Silent_p.S23S	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	23					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTATCATTTCCCTGGGGCTCT	0.502													A	86087927	C	A	86087927	2	1	97	1	0	0	0	0	0	0	0	1	5939	610	22	5		5	FLRT2	14	86087927	Silent	SNP	C	TCGA-BR-8590-01A-11D-2394-08		86087927	21261613	96	64288											
KCNK13	56659	broad.mit.edu	37	chr14	90651134	90651134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcagagagtgacacggaCgggcgccggctctcagggga	19	10	1	2	rs139412063	byFrequency	TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr14:90651134C>T	uc001xye.1	+	2	1456	c.1014C>T	c.(1012-1014)GAC>GAT	p.D338D		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	338	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				GTGACACGGACGGGCGCCGGC	0.602													T	90651134	C	T	90651134	2	4	97	1	0	0	0	0	0	0	0	1	8061	535	19	1		1	KCNK13	14	90651134	Silent	SNP	C	TCGA-BR-8590-01A-11D-2394-08	4563207	90651134	16698406	97	64289											
UBE3A	7337	broad.mit.edu	37	chr15	25616755	25616755	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatgcagctttttcctttTcatcttcatctttgtcttca	3	11	6	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr15:25616755T>G	uc001zaq.2	-	4	575	c.575A>C	c.(574-576)GAA>GCA	p.E192A	uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.E169A|UBE3A_uc001zas.2_Missense_Mutation_p.E189A|UBE3A_uc001zat.2_Missense_Mutation_p.E169A	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	192					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTTTTCCTTTTCATCTTCATC	0.423													G	25616755	T	G	25616755	3	3	97	1	0	0	0	0	1	0	0	0	16876	1783	62	5	2084	5	UBE3A	15	25616755	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08		25616755	76914637	98	64290											
SPTBN5	51332	broad.mit.edu	37	chr15	42178399	42178399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtggcttctcctgggtgcGgaagatggtgaatgctgcca	17	8	1	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr15:42178399G>A	uc001zos.2	-	7	1282	c.949C>T	c.(949-951)CGC>TGC	p.R317C		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	352	Spectrin 1.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCTGGGTGCGGAAGATGGTG	0.637													A	42178399	G	A	42178399	3	1	97	1	0	0	0	0	1	0	0	0	15121	1116	39	1	10218	1	SPTBN5	15	42178399	Missense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08	16561644	42178399	60352993	99	64291											
RUNDC2A	84127	broad.mit.edu	37	chr16	12096857	12096857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgtgcagtgccagatcCgctttggagggagaaaggag	15	7	1	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr16:12096857C>T	uc002dbw.1	+	3	141	c.79C>T	c.(79-81)CGC>TGC	p.R27C		NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN	RUN domain containing 2A	27										ovary(1)	1						GTGCCAGATCCGCTTTGGAGG	0.502			T	CIITA	PMBL|Hodgkin Lymphona|								T	12096857	C	T	12096857	3	4	97	1	0	0	0	0	1	0	0	0	13743	652	23	1	89	1	RUNDC2A	16	12096857	Missense_Mutation	SNP	C	TCGA-BR-8590-01A-11D-2394-08		12096857	78257896	100	64292											
SLC12A3	6559	broad.mit.edu	37	chr16	56906328	56906329	+	Frame_Shift_Ins	INS	-	-	C													atttagtggggacgctgatcINScccccatctgaggacaaggc							TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr16:56906327_56906328T>TC	uc002ekd.4	+	6	946_947	c.917_918T>TC	c.(916-918)atcfs	p.I306fs	SLC12A3_uc010ccm.3_Frame_Shift_Ins_p.I306fs|SLC12A3_uc010ccn.3_Frame_Shift_Ins_p.I305fs	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	306					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GGGACGCTGATCCCCCCATCTG	0.574													C	56906329	-	C	56906328	7	5	97	1	0	1	1	0	0	0	0	0	14384	845	30	0	944	0	SLC12A3	16	56906328	Frame_Shift_Ins	INS	-	TCGA-BR-8590-01A-11D-2394-08	44809471	56906328	33448425	101	64293											
CMIP	80790	broad.mit.edu	37	chr16	81739133	81739133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggccttcggctcctgtcGgaacacctcaccatgctcca	9	17	1	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr16:81739133G>A	uc002fgp.2	+	19	2193	c.2121G>A	c.(2119-2121)TCG>TCA	p.S707S	CMIP_uc002fgq.1_Silent_p.S613S|CMIP_uc010vnq.1_Silent_p.S520S|CMIP_uc002fgr.1_Silent_p.S554S	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	673	LRR 2.					cytoplasm|nucleus					0						GGCTCCTGTCGGAACACCTCA	0.647													A	81739133	G	A	81739133	2	1	97	1	0	0	0	0	0	0	0	1	3578	1103	39	1		1	CMIP	16	81739133	Silent	SNP	G	TCGA-BR-8590-01A-11D-2394-08	24832805	81739133	8615620	102	64294											
GLOD4	51031	broad.mit.edu	37	chr17	680125	680125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccataaagtcattgccaaGcttgtagtctccgacgccat	7	12	2	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:680125G>A	uc002frv.2	-	4	365	c.289C>T	c.(289-291)CTT>TTT	p.L97F	GLOD4_uc002frt.2_Missense_Mutation_p.L26F|GLOD4_uc002fru.2_Missense_Mutation_p.L82F|GLOD4_uc010vqc.1_Missense_Mutation_p.L73F	NM_016080	NP_057164	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	97						mitochondrion					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCATTGCCAAGCTTGTAGTCT	0.299													A	680125	G	A	680125	3	1	97	1	0	0	0	0	1	0	0	0	6450	971	34	2	680	2	GLOD4	17	680125	Missense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08		680125	80515085	103	64295											
TP53	7157	broad.mit.edu	37	chr17	7577084	7577084	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcggagattctcttccTctgtgcgccggtctctccca	9	15	4	1	rs121912667		TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:7577084T>A	uc002gim.2	-	8	1048	c.854A>T	c.(853-855)GAG>GTG	p.E285V	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E285V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E153V|TP53_uc010cng.1_Missense_Mutation_p.E153V|TP53_uc002gii.1_Missense_Mutation_p.E153V|TP53_uc010cnh.1_Missense_Mutation_p.E285V|TP53_uc010cni.1_Missense_Mutation_p.E285V|TP53_uc002gij.2_Missense_Mutation_p.E285V	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	285	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285K(95)|p.E285*(16)|p.E285V(13)|p.0?(7)|p.E285Q(4)|p.E285E(3)|p.E285G(3)|p.E285A(2)|p.?(2)|p.R283fs*16(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.E285fs*20(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATTCTCTTCCTCTGTGCGCCG	0.562		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7577084	T	A	7577084	3	1	97	1	0	0	0	0	1	0	0	0	16378	1551	54	5	432	5	TP53	17	7577084	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	6896959	7577084	73618126	104	64296											
DNAH2	146754	broad.mit.edu	37	chr17	7724572	7724572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcccaggtacacctgccGtacccttttcgaacgccaca	6	17	1	0	rs142766785		TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:7724572G>A	uc002giu.1	+	72	11041	c.11027G>A	c.(11026-11028)CGT>CAT	p.R3676H	DNAH2_uc010cnm.1_Missense_Mutation_p.R614H	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3676					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TACACCTGCCGTACCCTTTTC	0.483													A	7724572	G	A	7724572	3	1	97	1	0	0	0	0	1	0	0	0	4602	1145	40	1	11313	1	DNAH2	17	7724572	Missense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08	147488	7724572	73470638	105	64297											
DNAH9	1770	broad.mit.edu	37	chr17	11795238	11795238	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttgagtgtgataagctgAcctaccttgcccagctcacc	8	13	2	3			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:11795238A>C	uc002gne.2	+	58	11325	c.11257A>C	c.(11257-11259)ACC>CCC	p.T3753P	DNAH9_uc010coo.2_Missense_Mutation_p.T3047P|DNAH9_uc002gnf.2_Missense_Mutation_p.T65P|DNAH9_uc010vvh.1_Missense_Mutation_p.T106P	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3753					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGATAAGCTGACCTACCTTGC	0.473													C	11795238	A	C	11795238	3	2	97	1	0	0	0	0	1	0	0	0	4608	275	10	5	11487	5	DNAH9	17	11795238	Missense_Mutation	SNP	A	TCGA-BR-8590-01A-11D-2394-08	4070666	11795238	69399972	106	64298											
MPRIP	23164	broad.mit.edu	37	chr17	17077343	17077343	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccgagcggcaggcccTgcggcagtgccagcgtgaga	19	12	0	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:17077343T>G	uc002gqu.1	+	18	2599	c.2543T>G	c.(2542-2544)CTG>CGG	p.L848R	MPRIP_uc002gqv.1_Missense_Mutation_p.L848R|MPRIP_uc002gqw.1_Missense_Mutation_p.L603R|MPRIP_uc002gqx.1_Missense_Mutation_p.L1077R|MPRIP_uc002gqy.1_Missense_Mutation_p.L1077R|MPRIP_uc010cpl.1_Missense_Mutation_p.L74R|MPRIP_uc010cpm.1_Missense_Mutation_p.L74R	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	848	Interaction with PPP1R12A.|Potential.					cytoplasm|cytoskeleton	actin binding				0						CGGCAGGCCCTGCGGCAGTGC	0.647													G	17077343	T	G	17077343	3	3	97	1	0	0	0	0	1	0	0	0	9743	1580	55	5	2613	5	MPRIP	17	17077343	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	5282105	17077343	64117867	107	64299											
NLK	51701	broad.mit.edu	37	chr17	26518100	26518100	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccctacctagatgaaggGcgactacgatatcacacatg	8	13	1	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:26518100G>A	uc010crj.2	+	9	1502	c.1290G>A	c.(1288-1290)GGG>GGA	p.G430G	NLK_uc010cri.1_RNA	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	nemo like kinase	430					intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TAGATGAAGGGCGACTACGAT	0.423													A	26518100	G	A	26518100	2	1	97	1	0	0	0	0	0	0	0	1	10466	1190	42	2		2	NLK	17	26518100	Silent	SNP	G	TCGA-BR-8590-01A-11D-2394-08	9440757	26518100	54677110	108	64300											
FOXN1	8456	broad.mit.edu	37	chr17	26851592	26851592	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggacaccctcactgcccccAcacagcccccgcattgcgtc	7	21	1	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:26851592A>C	uc010crm.2	+	3	393	c.195A>C	c.(193-195)CCA>CCC	p.P65P	FOXN1_uc002hbj.2_Silent_p.P65P	NM_003593	NP_003584	O15353	FOXN1_HUMAN	forkhead box N1	65					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	Lung NSC(42;0.00431)					CACTGCCCCCACACAGCCCCC	0.662													C	26851592	A	C	26851592	2	2	97	1	0	0	0	0	0	0	0	1	6019	146	6	5		5	FOXN1	17	26851592	Silent	SNP	A	TCGA-BR-8590-01A-11D-2394-08	333492	26851592	54343618	109	64301											
GIT1	28964	broad.mit.edu	37	chr17	27903385	27903385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgccatgggtgtgtgttcCgcccgttcactggggagtgg	18	10	1	0	rs144848199		TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:27903385C>T	uc002hef.2	-	14	1678	c.1464G>A	c.(1462-1464)GCG>GCA	p.A488A	GIT1_uc002heg.2_Silent_p.A497A|GIT1_uc010wbg.1_Silent_p.A497A|GIT1_uc010csb.1_Silent_p.A488A	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interactor 1	488					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding				0				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GTGTGTGTTCCGCCCGTTCAC	0.652													T	27903385	C	T	27903385	2	4	97	1	0	0	0	0	0	0	0	1	6396	639	23	1		1	GIT1	17	27903385	Silent	SNP	C	TCGA-BR-8590-01A-11D-2394-08	1051793	27903385	53291825	110	64302											
NLE1	54475	broad.mit.edu	37	chr17	33464035	33464035	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttacgtcatgagctctccaGactttgatggtgcggtcctg	11	11	2	3			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:33464035G>A	uc002hiy.1	-	7	841	c.813C>T	c.(811-813)GTC>GTT	p.V271V	NLE1_uc010ctn.1_5'UTR|NLE1_uc002hiz.1_5'UTR	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Notchless gene homolog isoform a	271	WD 4.					nucleolus				breast(3)|ovary(1)	4		Ovarian(249;0.17)				GAGCTCTCCAGACTTTGATGG	0.577													A	33464035	G	A	33464035	2	1	97	1	0	0	0	0	0	0	0	1	10460	929	33	4		4	NLE1	17	33464035	Silent	SNP	G	TCGA-BR-8590-01A-11D-2394-08	5560650	33464035	47731175	111	64303											
MYL4	4635	broad.mit.edu	37	chr17	45299205	45299205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggtgctgagcttcggcaCgtccttgccaccctgggtat	13	12	0	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:45299205C>T	uc002ilg.2	+	5	599	c.471C>T	c.(469-471)CAC>CAT	p.H157H	MYL4_uc002ilh.2_Silent_p.H157H	NM_001002841	NP_001002841	P12829	MYL4_HUMAN	atrial/embryonic alkali myosin light chain	157	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			ovary(2)	2						AGCTTCGGCACGTCCTTGCCA	0.602													T	45299205	C	T	45299205	2	4	97	1	0	0	0	0	0	0	0	1	10049	535	19	1		1	MYL4	17	45299205	Silent	SNP	C	TCGA-BR-8590-01A-11D-2394-08	11835170	45299205	35896005	112	64304											
VEZF1	7716	broad.mit.edu	37	chr17	56059243	56059243	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttaactcttacttggcatttGaagggtctttctgttgaatg	9	6	3	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:56059243G>A	uc002ivf.1	-	3	926	c.783C>T	c.(781-783)TTC>TTT	p.F261F	VEZF1_uc010dcn.1_Silent_p.F105F	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	zinc finger protein 161	261	C2H2-type 5.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2						CTTGGCATTTGAAGGGTCTTT	0.378													A	56059243	G	A	56059243	2	1	97	1	0	0	0	0	0	0	0	1	17152	1281	45	4		4	VEZF1	17	56059243	Silent	SNP	G	TCGA-BR-8590-01A-11D-2394-08	10760038	56059243	25135967	113	64305											
VEZF1	7716	broad.mit.edu	37	chr17	56059278	56059278	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaatggacatgttttacatGacagcttaagtggtcaggcc	11	7	1	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:56059278G>A	uc002ivf.1	-	3	891	c.748C>T	c.(748-750)CAT>TAT	p.H250Y	VEZF1_uc010dcn.1_Missense_Mutation_p.H94Y	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	zinc finger protein 161	250	C2H2-type 4.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2						TGTTTTACATGACAGCTTAAG	0.378													A	56059278	G	A	56059278	3	1	97	1	0	0	0	0	1	0	0	0	17152	1290	45	4	833	4	VEZF1	17	56059278	Missense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08	35	56059278	25135932	114	64306											
RPS6KB1	6198	broad.mit.edu	37	chr17	58024086	58024086	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgacagccgaactctgggccAtacaaaaaacaagcttttcc	7	13	1	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:58024086A>T	uc002ixy.2	+	15	1618	c.1515A>T	c.(1513-1515)CCA>CCT	p.P505P	RPS6KB1_uc010ddj.1_Intron|RPS6KB1_uc010wom.1_Silent_p.P452P|RPS6KB1_uc010won.1_Silent_p.P482P|RPS6KB1_uc010woo.1_Silent_p.P440P|RPS6KB1_uc002ixz.2_RNA	NM_003161	NP_003152	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	505	Autoinhibitory domain.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			large_intestine(1)	1	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ACTCTGGGCCATACAAAAAAC	0.453													T	58024086	A	T	58024086	2	4	97	1	0	0	0	0	0	0	0	1	13656	204	8	5		5	RPS6KB1	17	58024086	Silent	SNP	A	TCGA-BR-8590-01A-11D-2394-08	1964808	58024086	23171124	115	64307											
PRKAR1A	5573	broad.mit.edu	37	chr17	66524021	66524021	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgtatgaggaattccTtagtaaagtctctattttag	9	4	1	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:66524021T>G	uc002jhg.2	+	8	929	c.749T>G	c.(748-750)CTT>CGT	p.L250R	PRKAR1A_uc002jhh.2_Missense_Mutation_p.L250R|PRKAR1A_uc002jhi.2_Missense_Mutation_p.L250R|PRKAR1A_uc002jhj.2_Missense_Mutation_p.L250R|PRKAR1A_uc002jhk.2_Missense_Mutation_p.L126R|PRKAR1A_uc002jhl.2_Missense_Mutation_p.L250R|PRKAR1A_uc002jhm.2_Missense_Mutation_p.L250R	NM_212471	NP_997636	P10644	KAP0_HUMAN	cAMP-dependent protein kinase, regulatory	250	cAMP 1.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|lung(3)|thyroid(2)|soft_tissue(2)|breast(1)	12	Breast(10;1.64e-13)					GAGGAATTCCTTAGTAAAGTC	0.368			T|Mis|N|F|S	RET	papillary thyroid	myxoma|endocrine|papillary thyroid			Carney_Complex|Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial|Cardiac_Myxomas_Familial_Clustering_of				G	66524021	T	G	66524021	3	3	97	1	0	0	0	0	1	0	0	0	12503	1609	56	5	775	5	PRKAR1A	17	66524021	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	8499935	66524021	14671189	116	64308											
DCC	1630	broad.mit.edu	37	chr18	50278619	50278619	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcagcaactttcaaatgggtCtctgctgatacaaaacatac	7	10	2	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr18:50278619C>G	uc002lfe.1	+	2	874	c.287C>G	c.(286-288)TCT>TGT	p.S96C	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	96	Extracellular (Potential).|Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCAAATGGGTCTCTGCTGATA	0.458													G	50278619	C	G	50278619	3	3	97	1	0	0	0	0	1	0	0	0	4282	913	32	5	293	5	DCC	18	50278619	Missense_Mutation	SNP	C	TCGA-BR-8590-01A-11D-2394-08		50278619	27798629	117	64309											
CYB5A	1528	broad.mit.edu	37	chr18	71920857	71920857	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taggcgatacatcaaggcgaCggccactgcagagatggcag	14	10	1	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr18:71920857C>G	uc002lli.2	-	5	478	c.367G>C	c.(367-369)GTC>CTC	p.V123L	CYB5A_uc002llh.2_3'UTR	NM_148923	NP_683725	P00167	CYB5_HUMAN	cytochrome b-5 isoform 1	123	Helical; (Potential).				electron transport chain|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding				0		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)			Methoxyflurane(DB01028)	ATCAAGGCGACGGCCACTGCA	0.512													G	71920857	C	G	71920857	3	3	97	1	0	0	0	0	1	0	0	0	4122	536	19	5	41	5	CYB5A	18	71920857	Missense_Mutation	SNP	C	TCGA-BR-8590-01A-11D-2394-08	21642238	71920857	6156391	118	64310											
SALL3	27164	broad.mit.edu	37	chr18	76754852	76754852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaggcgcccctggccgcgCgggcatcaaggaggaggcgc	19	14	1	0	rs142929767	by1000genomes	TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr18:76754852C>T	uc002lmt.2	+	2	2861	c.2861C>T	c.(2860-2862)GCG>GTG	p.A954V	SALL3_uc010dra.2_Missense_Mutation_p.A561V	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	954					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		cctggccgcgcgggcATCAAG	0.512													T	76754852	C	T	76754852	3	4	97	1	0	0	0	0	1	0	0	0	13812	768	27	1	2867	1	SALL3	18	76754852	Missense_Mutation	SNP	C	TCGA-BR-8590-01A-11D-2394-08	4833995	76754852	1322396	119	64311											
HAPLN4	404037	broad.mit.edu	37	chr19	19371983	19371983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaccgagcccgactcaccCtctgaggacaaccaagcagg	9	16	2	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr19:19371983C>T	uc002nmb.2	-	3	178	c.123G>A	c.(121-123)GAG>GAA	p.E41E	HAPLN4_uc002nmc.2_Silent_p.E41E	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	41					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)			CCGACTCACCCTCTGAGGACA	0.642													T	19371983	C	T	19371983	2	4	97	1	0	0	0	0	0	0	0	1	6957	695	24	4		4	HAPLN4	19	19371983	Silent	SNP	C	TCGA-BR-8590-01A-11D-2394-08		19371983	39757000	120	64312											
ZNF99	7652	broad.mit.edu	37	chr19	22939535	22939535	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccccagtatgaattatcTtatgtttcataagggttgag	8	7	3	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr19:22939535T>G	uc010xrh.1	-	7	2636	c.2636A>C	c.(2635-2637)AAG>ACG	p.K879T		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATGAATTATCTTATGTTTCAT	0.348													G	22939535	T	G	22939535	3	3	97	1	0	0	0	0	1	0	0	0	18201	1609	56	5	480	5	ZNF99	19	22939535	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	3567552	22939535	36189448	121	64313											
ZNF829	374899	broad.mit.edu	37	chr19	37383033	37383033	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatatgaactacaactaaaAgccttgccacattccttaca	3	11	0	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr19:37383033A>G	uc002ofa.1	-	6	1022	c.660T>C	c.(658-660)GCT>GCC	p.A220A	ZNF345_uc002oez.2_Intron	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	220	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACAACTAAAAGCCTTGCCAC	0.403													G	37383033	A	G	37383033	2	3	97	1	0	0	0	0	0	0	0	1	18179	59	3	3		3	ZNF829	19	37383033	Silent	SNP	A	TCGA-BR-8590-01A-11D-2394-08	14443498	37383033	21745950	122	64314											
ZNF585A	199704	broad.mit.edu	37	chr19	37644040	37644040	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcatcttgagtgtggacTtttgtgtgaatgctttgcca	12	6	1	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr19:37644040T>C	uc002ofo.1	-	5	992	c.761A>G	c.(760-762)AAG>AGG	p.K254R	ZNF585A_uc002ofm.1_Missense_Mutation_p.K199R|ZNF585A_uc002ofn.1_Missense_Mutation_p.K199R	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	254	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGTGTGGACTTTTGTGTGAA	0.423													C	37644040	T	C	37644040	3	2	97	1	0	0	0	0	1	0	0	0	18014	1609	56	3	1552	3	ZNF585A	19	37644040	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	261007	37644040	21484943	123	64315											
SIGLEC12	89858	broad.mit.edu	37	chr19	52002437	52002437	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcttacctgtgccatctccTtggaagacagtcatggtcaa	8	11	4	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr19:52002437T>A	uc002pwx.1	-	4	1178	c.1122A>T	c.(1120-1122)CAA>CAT	p.Q374H	SIGLEC12_uc002pww.1_Missense_Mutation_p.Q256H|SIGLEC12_uc010eoy.1_Missense_Mutation_p.Q101H	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	374	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGCCATCTCCTTGGAAGACAG	0.572													A	52002437	T	A	52002437	3	1	97	1	0	0	0	0	1	0	0	0	14308	1606	56	5	685	5	SIGLEC12	19	52002437	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	14358397	52002437	7126546	124	64316											
ZNF578	147660	broad.mit.edu	37	chr19	53014994	53014994	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacttcatactggagagaaaTcttacaaatgtgaagaatgt	9	5	2	3			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr19:53014994T>C	uc002pzp.3	+	6	1604	c.1360T>C	c.(1360-1362)TCT>CCT	p.S454P		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TGGAGAGAAATCTTACAAATG	0.373													C	53014994	T	C	53014994	3	2	97	1	0	0	0	0	1	0	0	0	18007	1435	50	3	1370	3	ZNF578	19	53014994	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	1012557	53014994	6113989	125	64317											
KIR2DL4	3805	broad.mit.edu	37	chr19	55320312	55320312	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cccttctagtagttggccttCacccactgaaccaagcttca	6	15	3	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr19:55320312C>G	uc010yfm.1	+	5	720	c.680C>G	c.(679-681)TCA>TGA	p.S227*	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_Nonsense_Mutation_p.S222*|KIR2DL4_uc002qhg.2_Nonsense_Mutation_p.S227*|KIR2DL4_uc002qhi.2_Intron|KIR2DL4_uc002qhh.2_Nonsense_Mutation_p.S132*|KIR2DL4_uc002qhj.2_Intron|KIR2DL4_uc002qhf.2_Intron|KIR2DL4_uc010esd.2_Intron|KIR2DL4_uc010ese.2_Intron	NM_002255	NP_002246	Q99706	KI2L4_HUMAN	killer cell immunoglobulin-like receptor, two	227	Extracellular (Potential).				cellular defense response|regulation of immune response	integral to plasma membrane	protein binding|transmembrane receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0192)		AGTTGGCCTTCACCCACTGAA	0.403													G	55320312	C	G	55320312	4	3	97	1	0	0	0	0	0	1	0	0	8318	838	29	5	698	5	KIR2DL4	19	55320312	Nonsense_Mutation	SNP	C	TCGA-BR-8590-01A-11D-2394-08	2305318	55320312	3808671	126	64318											
PDYN	5173	broad.mit.edu	37	chr20	1961114	1961114	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcgccgcaagaagcccccaTagcgtttgtacaggtcctca	10	14	1	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr20:1961114T>A	uc010gaj.2	-	3	862	c.620A>T	c.(619-621)TAT>TTT	p.Y207F	uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.Y207F|PDYN_uc010zpt.1_Missense_Mutation_p.Y52F	NM_024411	NP_077722	P01213	PDYN_HUMAN	beta-neoendorphin-dynorphin preproprotein	207					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			upper_aerodigestive_tract(1)|ovary(1)	2						GAAGCCCCCATAGCGTTTGTA	0.597													A	1961114	T	A	1961114	3	1	97	1	0	0	0	0	1	0	0	0	11699	1406	49	5	148	5	PDYN	20	1961114	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08		1961114	61064406	127	64319											
CSTL1	128817	broad.mit.edu	37	chr20	23421043	23421043	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acatgaattcaacactcaacTtcttcattcaatcctacaac	1	13	5	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr20:23421043T>G	uc002wte.2	+	2	385	c.139T>G	c.(139-141)TTC>GTC	p.F47V	CSTL1_uc010zsu.1_RNA|CSTL1_uc010zsv.1_RNA	NM_138283	NP_612140	Q9H114	CST1L_HUMAN	cystatin-like 1 precursor	47						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0993)|Lung NSC(19;0.235)					AACACTCAACTTCTTCATTCA	0.483													G	23421043	T	G	23421043	3	3	97	1	0	0	0	0	1	0	0	0	3987	1609	56	5	141	5	CSTL1	20	23421043	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	21459929	23421043	39604477	128	64320											
CST5	1473	broad.mit.edu	37	chr20	23860165	23860165	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtactcgctgatggcaAagtccagggcacactgcaca	11	11	0	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr20:23860165A>T	uc002wtr.1	-	1	216	c.149T>A	c.(148-150)TTT>TAT	p.F50Y		NM_001900	NP_001891	P28325	CYTD_HUMAN	cystatin D precursor	50						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding				0						GCTGATGGCAAAGTCCAGGGC	0.582													T	23860165	A	T	23860165	3	4	97	1	0	0	0	0	1	0	0	0	3975	14	1	5	291	5	CST5	20	23860165	Missense_Mutation	SNP	A	TCGA-BR-8590-01A-11D-2394-08	439122	23860165	39165355	129	64321											
CPNE1	8904	broad.mit.edu	37	chr20	34220233	34220233	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccttgctgggttccttacCgtgatggtcccccgcccagc	10	17	0	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr20:34220233C>T	uc002xdf.2	-	6	747	c.384G>A	c.(382-384)ACG>ACA	p.T128T	CPNE1_uc002xdc.2_5'Flank|CPNE1_uc010zvj.1_Silent_p.T133T|CPNE1_uc002xde.2_Silent_p.T128T|CPNE1_uc002xdg.2_Silent_p.T128T|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Silent_p.T128T|CPNE1_uc002xdi.2_Silent_p.T128T|CPNE1_uc002xdj.2_Silent_p.T128T|CPNE1_uc002xdk.2_Silent_p.T128T|CPNE1_uc002xdl.2_Silent_p.T128T|CPNE1_uc002xdm.2_Silent_p.T128T|CPNE1_uc010gfk.1_Silent_p.T128T|CPNE1_uc002xdn.1_RNA|CPNE1_uc002xdo.1_RNA|CPNE1_uc002xdp.1_RNA	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	128					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGTTCCTTACCGTGATGGTCC	0.522													T	34220233	C	T	34220233	2	4	97	1	0	0	0	0	0	0	0	1	3811	666	23	1		1	CPNE1	20	34220233	Silent	SNP	C	TCGA-BR-8590-01A-11D-2394-08	10360068	34220233	28805287	130	64322											
PES1	23481	broad.mit.edu	37	chr22	30984024	30984024	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttgtattcacggaacTtgttgacaatgggttcgtgg	11	8	2	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr22:30984024T>G	uc003aij.1	-	3	316	c.242A>C	c.(241-243)AAG>ACG	p.K81T	PES1_uc003aik.1_Missense_Mutation_p.K81T|PES1_uc003ail.1_Missense_Mutation_p.K81T|PES1_uc003aim.1_Missense_Mutation_p.K81T|PES1_uc003ain.1_5'UTR|PES1_uc003aio.1_5'UTR	NM_014303	NP_055118	O00541	PESC_HUMAN	pescadillo homolog 1, containing BRCT domain	81	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						TTCACGGAACTTGTTGACAAT	0.284													G	30984024	T	G	30984024	3	3	97	1	0	0	0	0	1	0	0	0	11733	1609	56	5	1576	5	PES1	22	30984024	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08		30984024	20320542	131	64323											
SBF1	6305	broad.mit.edu	37	chr22	50895067	50895067	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatcggtgccaaggccacTgctgcgtccactggtccgga	12	15	0	0			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr22:50895067T>C	uc003blh.2	-	30	4135	c.3940A>G	c.(3940-3942)AGT>GGT	p.S1314G	SBF1_uc003ble.2_5'Flank|SBF1_uc003blf.2_5'Flank|SBF1_uc011arx.1_Missense_Mutation_p.S952G	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1288	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCAAGGCCACTGCTGCGTCCA	0.692													C	50895067	T	C	50895067	3	2	97	1	0	0	0	0	1	0	0	0	13858	1580	55	3	1789	3	SBF1	22	50895067	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	19911043	50895067	409499	132	64324											
GLRA2	2742	broad.mit.edu	37	chrX	14625361	14625361	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaagaagagaaggaacTtggctactgtacaaagcact	10	6	0	3			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chrX:14625361T>G	uc010nep.2	+	7	1018	c.686T>G	c.(685-687)CTT>CGT	p.L229R	GLRA2_uc010neq.2_Missense_Mutation_p.L229R|GLRA2_uc004cwe.3_Missense_Mutation_p.L229R|GLRA2_uc011mio.1_Missense_Mutation_p.L140R|GLRA2_uc011mip.1_Missense_Mutation_p.L207R	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	229	Extracellular (Probable).				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(1)|lung(1)	2	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	GAGAAGGAACTTGGCTACTGT	0.393													G	14625361	T	G	14625361	3	3	97	1	0	0	0	0	1	0	0	0	6455	1609	56	5	780	5	GLRA2	23	14625361	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08		14625361	140645199	133	64325											
CNKSR2	22866	broad.mit.edu	37	chrX	21627334	21627334	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattcgcaagacagccagtcAgcgccgctcctggcaggatt	11	14	1	1			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chrX:21627334A>G	uc004czx.1	+	20	2327	c.2291A>G	c.(2290-2292)CAG>CGG	p.Q764R	CNKSR2_uc004czw.2_Missense_Mutation_p.Q764R|CNKSR2_uc011mjn.1_Missense_Mutation_p.Q715R|CNKSR2_uc011mjo.1_Missense_Mutation_p.Q734R|CNKSR2_uc004czy.2_Missense_Mutation_p.Q356R	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	764					regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						ACAGCCAGTCAGCGCCGCTCC	0.532													G	21627334	A	G	21627334	3	3	97	1	0	0	0	0	1	0	0	0	3607	188	7	3	2369	3	CNKSR2	23	21627334	Missense_Mutation	SNP	A	TCGA-BR-8590-01A-11D-2394-08	7001973	21627334	133643226	134	64326											
PABPC5	140886	broad.mit.edu	37	chrX	90691563	90691563	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctttgggtcaattagTcgggccaaagtgatgatgga	12	7	2	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chrX:90691563T>A	uc004efg.2	+	2	1427	c.987T>A	c.(985-987)AGT>AGA	p.S329R	PABPC5_uc004eff.1_Missense_Mutation_p.S165R	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	329	RRM 4.					cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3						GGTCAATTAGTCGGGCCAAAG	0.448													A	90691563	T	A	90691563	3	1	97	1	0	0	0	0	1	0	0	0	11367	1664	58	5	989	5	PABPC5	23	90691563	Missense_Mutation	SNP	T	TCGA-BR-8590-01A-11D-2394-08	69064229	90691563	64578997	135	64327											
PABPC5	140886	broad.mit.edu	37	chrX	90691626	90691626	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtggtctgcttttcctcTtttgaagaggctaccaaagc	11	9	2	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chrX:90691626T>C	uc004efg.2	+	2	1490	c.1050T>C	c.(1048-1050)TCT>TCC	p.S350S	PABPC5_uc004eff.1_Silent_p.S186S	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	350	RRM 4.					cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3						GCTTTTCCTCTTTTGAAGAGG	0.532													C	90691626	T	C	90691626	2	2	97	1	0	0	0	0	0	0	0	1	11367	1596	56	3		3	PABPC5	23	90691626	Silent	SNP	T	TCGA-BR-8590-01A-11D-2394-08	63	90691626	64578934	136	64328											
ACTRT1	139741	broad.mit.edu	37	chrX	127185687	127185687	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagtaaccctcaaagatggGgacagtgcaagtgaccccat	12	10	1	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chrX:127185687G>T	uc004eum.2	-	1	696	c.499C>A	c.(499-501)CCC>ACC	p.P167T		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	167						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)|skin(1)	5						TCAAAGATGGGGACAGTGCAA	0.577													T	127185687	G	T	127185687	3	4	97	1	0	0	0	0	1	0	0	0	218	1232	43	5	635	5	ACTRT1	23	127185687	Missense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08	36494061	127185687	28084873	137	64329											
ABCD1	215	broad.mit.edu	37	chrX	152991318	152991318	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgaccagtctctgacggaGgacgtggtggcctttgcggc	15	12	1	2			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chrX:152991318G>T	uc004fif.2	+	1	996	c.597G>T	c.(595-597)GAG>GAT	p.E199D	BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank	NM_000033	NP_000024	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member	199	ABC transmembrane type-1.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGACGGAGGACGTGGTGG	0.637													T	152991318	G	T	152991318	3	4	97	1	0	0	0	0	1	0	0	0	60	991	35	5	599	5	ABCD1	23	152991318	Missense_Mutation	SNP	G	TCGA-BR-8590-01A-11D-2394-08	25805631	152991318	2279242	138	64330											
KLHL17	339451	broad.mit.edu	37	chr1	899383	899383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctatgtgcgagtggccaCgcttggtgggtgatggggcc	19	9	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:899383C>T	uc001aca.1	+	9	1546	c.1439C>T	c.(1438-1440)ACG>ATG	p.T480M	KLHL17_uc001acc.1_RNA|PLEKHN1_uc001acd.2_5'Flank|PLEKHN1_uc001acf.2_5'Flank|PLEKHN1_uc001ace.2_5'Flank	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	kelch-like 17	480	Interaction with F-actin (By similarity).|Kelch 3.				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGAGTGGCCACGCTTGGTGGG	0.682													T	899383	C	T	899383	3	4	98	1	0	0	0	0	1	0	0	0	8372	536	19	1	1473	1	KLHL17	1	899383	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08		899383	248351238	1	64331											
SDF4	51150	broad.mit.edu	37	chr1	1154278	1154278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtccgcctggtaccagcGgtccttcaggttctccagga	12	14	2	0	rs151114509	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:1154278G>A	uc001adh.3	-	5	936	c.607C>T	c.(607-609)CGC>TGC	p.R203C	SDF4_uc001adg.2_RNA|SDF4_uc001adi.3_Missense_Mutation_p.R203C|SDF4_uc009vjv.2_Missense_Mutation_p.R81C|SDF4_uc009vjw.2_RNA	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4 isoform 2	203	EF-hand 3.				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|calcium ion binding|identical protein binding|protein binding			upper_aerodigestive_tract(1)|large_intestine(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		TGGTACCAGCGGTCCTTCAGG	0.632													A	1154278	G	A	1154278	3	1	98	1	0	0	0	0	1	0	0	0	13962	1116	39	1	609	1	SDF4	1	1154278	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	254895	1154278	248096343	2	64332											
B3GALT6	126792	broad.mit.edu	37	chr1	1168284	1168284	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaactctgcgactactAcctgccctacgcgctgggcg	11	16	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:1168284A>G	uc001adk.2	+	1	656	c.626A>G	c.(625-627)TAC>TGC	p.Y209C	SDF4_uc001adh.3_5'Flank|SDF4_uc001adi.3_5'Flank|SDF4_uc009vjv.2_5'Flank|SDF4_uc009vjw.2_5'Flank	NM_080605	NP_542172	Q96L58	B3GT6_HUMAN	beta-1,3-galactosyltransferase 6	209	Lumenal (Potential).				glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGCGACTACTACCTGCCCTAC	0.667													G	1168284	A	G	1168284	3	3	98	1	0	0	0	0	1	0	0	0	1251	391	14	3	628	3	B3GALT6	1	1168284	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	14006	1168284	248082337	3	64333											
DVL1	1855	broad.mit.edu	37	chr1	1277817	1277817	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggtctgtgtggctgtcCgtgccctgggaccccgcatc	15	14	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:1277817C>T	uc001aer.3	-	3	335	c.288G>A	c.(286-288)ACG>ACA	p.T96T	DVL1_uc002quu.2_5'Flank|DVL1_uc009vka.2_5'Flank|DVL1_uc001aeu.1_5'Flank	NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	96					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGTGGCTGTCCGTGCCCTGGG	0.711													T	1277817	C	T	1277817	2	4	98	1	0	0	0	0	0	0	0	1	4835	639	23	1		1	DVL1	1	1277817	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	109533	1277817	247972804	4	64334											
NADK	65220	broad.mit.edu	37	chr1	1685059	1685059	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcaaaggacacccatgcTgtgttccttgcttcaggtga	9	12	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:1685059T>C	uc009vkw.2	-	11	1252	c.1131A>G	c.(1129-1131)ACA>ACG	p.T377T	NADK_uc001aic.2_Silent_p.T377T|NADK_uc001aid.3_Silent_p.T377T|NADK_uc001aie.2_Silent_p.T522T|NADK_uc010nyv.1_Silent_p.T345T	NM_023018	NP_075394	O95544	NADK_HUMAN	NAD kinase	377					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		ACACCCATGCTGTGTTCCTTG	0.627													C	1685059	T	C	1685059	2	2	98	1	0	0	0	0	0	0	0	1	10137	1567	55	3		3	NADK	1	1685059	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	407242	1685059	247565562	5	64335											
PLCH2	9651	broad.mit.edu	37	chr1	2415891	2415891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccttgcattgcaggaagCggacacggatgaccaccaag	13	11	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:2415891C>T	uc001aji.1	+	5	924	c.650C>T	c.(649-651)GCG>GTG	p.A217V	PLCH2_uc010nyz.1_Missense_Mutation_p.A5V|PLCH2_uc009vle.1_Missense_Mutation_p.A5V|PLCH2_uc001ajj.1_Missense_Mutation_p.A5V|PLCH2_uc001ajk.1_Missense_Mutation_p.A5V	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	217	EF-hand 2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TTGCAGGAAGCGGACACGGAT	0.597													T	2415891	C	T	2415891	3	4	98	1	0	0	0	0	1	0	0	0	12038	768	27	1	668	1	PLCH2	1	2415891	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	730832	2415891	246834730	6	64336											
PLCH2	9651	broad.mit.edu	37	chr1	2426323	2426323	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaggacgtggagtctgGggaggatgccggggccagca	20	7	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:2426323G>T	uc001aji.1	+	12	1962	c.1688G>T	c.(1687-1689)GGG>GTG	p.G563V	PLCH2_uc010nyz.1_Missense_Mutation_p.G351V|PLCH2_uc009vle.1_Missense_Mutation_p.G351V|PLCH2_uc001ajj.1_Missense_Mutation_p.G351V|PLCH2_uc001ajk.1_Missense_Mutation_p.G351V	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	563					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GTGGAGTCTGGGGAGGATGCC	0.672													T	2426323	G	T	2426323	3	4	98	1	0	0	0	0	1	0	0	0	12038	1232	43	5	1734	5	PLCH2	1	2426323	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	10432	2426323	246824298	7	64337											
C1orf174	339448	broad.mit.edu	37	chr1	3809521	3809521	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggctgccgaacaacttcGtgctttcaagcgcgctgaag	11	13	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:3809521G>A	uc001alf.2	-	2	162	c.55C>T	c.(55-57)CGA>TGA	p.R19*	C1orf174_uc009vls.2_RNA	NM_207356	NP_997239	Q8IYL3	CA174_HUMAN	hypothetical protein LOC339448	19											0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		GAACAACTTCGTGCTTTCAAG	0.567													A	3809521	G	A	3809521	4	1	98	1	0	0	0	0	0	1	0	0	2015	1153	40	1	688	1	C1orf174	1	3809521	Nonsense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1383198	3809521	245441100	8	64338											
RNF207	388591	broad.mit.edu	37	chr1	6272055	6272055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaccaaggtgctgctggCggagggcgagaacacgccct	15	13	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:6272055C>T	uc001amg.2	+	13	1412	c.1238C>T	c.(1237-1239)GCG>GTG	p.A413V	RNF207_uc010nzp.1_RNA	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN	ring finger protein 207	413						intracellular	zinc ion binding				0	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|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;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GTGCTGCTGGCGGAGGGCGAG	0.662													T	6272055	C	T	6272055	3	4	98	1	0	0	0	0	1	0	0	0	13474	768	27	1	1284	1	RNF207	1	6272055	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2462534	6272055	242978566	9	64339											
RNF207	388591	broad.mit.edu	37	chr1	6272090	6272090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccttcgcagagcactgcCgccactatgaggactcctac	9	17	0	2	rs138727802	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:6272090C>T	uc001amg.2	+	13	1447	c.1273C>T	c.(1273-1275)CGC>TGC	p.R425C	RNF207_uc010nzp.1_RNA	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN	ring finger protein 207	425	Potential.					intracellular	zinc ion binding				0	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|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;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AGAGCACTGCCGCCACTATGA	0.642													T	6272090	C	T	6272090	3	4	98	1	0	0	0	0	1	0	0	0	13474	652	23	1	1319	1	RNF207	1	6272090	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	35	6272090	242978531	10	64340											
TNFRSF9	3604	broad.mit.edu	37	chr1	7998254	7998254	+	Splice_Site	DEL	T	T	-													caaagaaacgcaaacgtaccTttttttgtcagttcttgacc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:7998253_7998253CT>C	uc001aot.3	-	5	607	c.346_splice	c.e5+1	p.G116_splice		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	116					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.G116S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GCAAACGTACCTTTTTTTGTC	0.408													-	7998254	T	-	7998254	8	5	98	1	0	1	0	1	0	0	1	0	16297	1623	56	0	442	0	TNFRSF9	1	7998254	Splice_Site	DEL	T	TCGA-BR-8591-01A-11D-2394-08	1726164	7998254	241252367	11	64341											
RERE	473	broad.mit.edu	37	chr1	8420317	8420318	+	Frame_Shift_Ins	INS	-	-	C													gtggggagtgggcaggacgaINScccccccgctatgctgcctc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:8420317_8420318insC	uc001ape.2	-	19	4059_4060	c.3249_3250insG	c.(3247-3252)GGGTCGfs	p.G1083fs	RERE_uc001apf.2_Frame_Shift_Ins_p.G1083fs|RERE_uc010nzx.1_Frame_Shift_Ins_p.G815fs|RERE_uc001apd.2_Frame_Shift_Ins_p.G529fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1083_1084	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGGCAGGACGACCCCCCCGCTA	0.718													C	8420318	-	C	8420317	7	5	98	1	0	1	1	0	0	0	0	0	13231	275	10	0	1474	0	RERE	1	8420317	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	422063	8420317	240830304	12	64342											
RERE	473	broad.mit.edu	37	chr1	8421496	8421496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accctcatcgttgacgctgcGactgtctgaactctctccct	7	16	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:8421496G>A	uc001ape.2	-	19	2881	c.2071C>T	c.(2071-2073)CGC>TGC	p.R691C	RERE_uc001apf.2_Missense_Mutation_p.R691C|RERE_uc010nzx.1_Missense_Mutation_p.R423C|RERE_uc001apd.2_Missense_Mutation_p.R137C	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	691					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTGACGCTGCGACTGTCTGAA	0.592													A	8421496	G	A	8421496	3	1	98	1	0	0	0	0	1	0	0	0	13231	1058	37	1	2653	1	RERE	1	8421496	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1179	8421496	240829125	13	64343											
CA6	765	broad.mit.edu	37	chr1	9027746	9027746	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaccctgactggccttgaCgttcaggacatgctgcccag	10	14	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:9027746C>T	uc001apm.2	+	6	624	c.600C>T	c.(598-600)GAC>GAT	p.D200D	CA6_uc009vmn.2_Silent_p.D140D	NM_001215	NP_001206	P23280	CAH6_HUMAN	carbonic anhydrase VI precursor	200					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			ovary(2)	2	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGCCTTGACGTTCAGGACA	0.577													T	9027746	C	T	9027746	2	4	98	1	0	0	0	0	0	0	0	1	2521	535	19	1		1	CA6	1	9027746	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	606250	9027746	240222875	14	64344											
KIF1B	23095	broad.mit.edu	37	chr1	10420986	10420986	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgtctttctgaccttaGgaccttctaccgctttgagg	8	12	4	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:10420986G>T	uc001aqx.3	+	39	4258	c.4056_splice	c.e39-1	p.R1352_splice	KIF1B_uc001aqw.3_Splice_Site_p.R1306_splice|KIF1B_uc001aqy.2_Splice_Site_p.R1326_splice|KIF1B_uc001aqz.2_Splice_Site_p.R1352_splice|KIF1B_uc001ara.2_Splice_Site_p.R1312_splice|KIF1B_uc001arb.2_Splice_Site_p.R1338_splice	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b						anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCTGACCTTAGGACCTTCTAC	0.468													T	10420986	G	T	10420986	5	4	98	1	0	0	0	0	0	0	1	0	8284	1014	35	5	5548	5	KIF1B	1	10420986	Splice_Site	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1393240	10420986	238829635	15	64345											
DFFA	1676	broad.mit.edu	37	chr1	10521701	10521701	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgaacagtctccgtcTtctttatgtcccagttcaag	6	14	4	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:10521701T>A	uc001arj.2	-	6	940	c.842A>T	c.(841-843)AAG>ATG	p.K281M	DFFA_uc001ark.2_3'UTR	NM_004401	NP_004392	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha	281					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding				0	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		AGTCTCCGTCTTCTTTATGTC	0.562													A	10521701	T	A	10521701	3	1	98	1	0	0	0	0	1	0	0	0	4452	1609	56	5	157	5	DFFA	1	10521701	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	100715	10521701	238728920	16	64346											
CASZ1	54897	broad.mit.edu	37	chr1	10705023	10705023	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtatttgaagccattggcTgcccgccgctccgccttctc	9	15	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:10705023T>C	uc001aro.2	-	18	4139	c.3819A>G	c.(3817-3819)GCA>GCG	p.A1273A		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGCCATTGGCTGCCCGCCGCT	0.607													C	10705023	T	C	10705023	2	2	98	1	0	0	0	0	0	0	0	1	2685	1567	55	3		3	CASZ1	1	10705023	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	183322	10705023	238545598	17	64347											
PTCHD2	57540	broad.mit.edu	37	chr1	11561152	11561152	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttaggggcccagaagccaGggccccaacctggggcaggg	16	12	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:11561152G>T	uc001ash.3	+	2	241	c.103G>T	c.(103-105)GGG>TGG	p.G35W	PTCHD2_uc001asi.1_Missense_Mutation_p.G35W	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	35	Cytoplasmic (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCAGAAGCCAGGGCCCCAACC	0.647													T	11561152	G	T	11561152	3	4	98	1	0	0	0	0	1	0	0	0	12733	1000	35	5	105	5	PTCHD2	1	11561152	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	856129	11561152	237689469	18	64348											
PTCHD2	57540	broad.mit.edu	37	chr1	11561770	11561770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcatcccgccccacgcgGcagtcgcggccaatcagagc	11	19	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:11561770G>A	uc001ash.3	+	2	859	c.721G>A	c.(721-723)GCA>ACA	p.A241T	PTCHD2_uc001asi.1_Missense_Mutation_p.A241T	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	241	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCCCCACGCGGCAGTCGCGGC	0.692													A	11561770	G	A	11561770	3	1	98	1	0	0	0	0	1	0	0	0	12733	1203	42	2	723	2	PTCHD2	1	11561770	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	618	11561770	237688851	19	64349											
FBXO6	26270	broad.mit.edu	37	chr1	11733437	11733437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgagcccccacctgtgaccAtccaacagtggaacaatgcc	8	16	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:11733437A>G	uc001aso.2	+	5	779	c.613A>G	c.(613-615)ATC>GTC	p.I205V		NM_018438	NP_060908	Q9NRD1	FBX6_HUMAN	F-box only protein 6	205	FBA.				DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding			lung(1)	1	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTGTGACCATCCAACAGTG	0.602													G	11733437	A	G	11733437	3	3	98	1	0	0	0	0	1	0	0	0	5759	217	8	3	627	3	FBXO6	1	11733437	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	171667	11733437	237517184	20	64350											
VPS13D	55187	broad.mit.edu	37	chr1	12337865	12337865	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacttgggacagatattcaTccagaattttgtggcgggag	12	7	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:12337865T>C	uc001atv.2	+	19	4361	c.4220T>C	c.(4219-4221)ATC>ACC	p.I1407T	VPS13D_uc001atw.2_Missense_Mutation_p.I1407T|VPS13D_uc001atx.2_Missense_Mutation_p.I595T	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1407					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAGATATTCATCCAGAATTTT	0.448													C	12337865	T	C	12337865	3	2	98	1	0	0	0	0	1	0	0	0	17189	1435	50	3	4290	3	VPS13D	1	12337865	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	604428	12337865	236912756	21	64351											
VPS13D	55187	broad.mit.edu	37	chr1	12557635	12557635	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatattctgagagccaggcGgaaggacaggagcagctctt	14	9	2	1	rs150143640	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:12557635G>A	uc001atv.2	+	68	12885	c.12744G>A	c.(12742-12744)GCG>GCA	p.A4248A	VPS13D_uc001atw.2_Silent_p.A4223A|VPS13D_uc001atx.2_Silent_p.A3435A|VPS13D_uc009vnl.2_RNA|VPS13D_uc010obd.1_Silent_p.A246A	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	4247					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGAGCCAGGCGGAAGGACAGG	0.547													A	12557635	G	A	12557635	2	1	98	1	0	0	0	0	0	0	0	1	17189	1103	39	1		1	VPS13D	1	12557635	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	219770	12557635	236692986	22	64352											
DHRS3	9249	broad.mit.edu	37	chr1	12628448	12628448	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctcgagtgcagcctgtggaAgtatgctggagtaggaggaa	16	7	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:12628448A>T	uc001auc.2	-	6	1297	c.830T>A	c.(829-831)CTT>CAT	p.L277H	DHRS3_uc001aub.2_Missense_Mutation_p.L192H	NM_004753	NP_004744	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	277					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			skin(1)	1	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	AGCCTGTGGAAGTATGCTGGA	0.537													T	12628448	A	T	12628448	3	4	98	1	0	0	0	0	1	0	0	0	4491	72	3	5	82	5	DHRS3	1	12628448	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	70813	12628448	236622173	23	64353											
SPEN	23013	broad.mit.edu	37	chr1	16255775	16255775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagatggaggatgctcgcGtgctttcaaaaaagcagcct	12	9	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:16255775G>A	uc001axk.1	+	11	3244	c.3040G>A	c.(3040-3042)GTG>ATG	p.V1014M	SPEN_uc010obp.1_Missense_Mutation_p.V973M	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1014					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGATGCTCGCGTGCTTTCAAA	0.463													A	16255775	G	A	16255775	3	1	98	1	0	0	0	0	1	0	0	0	15037	1145	40	1	3082	1	SPEN	1	16255775	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3627327	16255775	232994846	24	64354											
EPHA2	1969	broad.mit.edu	37	chr1	16460035	16460035	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatctcggtagtgaacttcAacacagcctggttggggtcc	13	10	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:16460035A>G	uc001aya.1	-	10	1942	c.1805T>C	c.(1804-1806)TTG>TCG	p.L602S		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	602	Cytoplasmic (Potential).				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGTGAACTTCAACACAGCCTG	0.597													G	16460035	A	G	16460035	3	3	98	1	0	0	0	0	1	0	0	0	5167	131	5	3	1157	3	EPHA2	1	16460035	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	204260	16460035	232790586	25	64355											
RCC2	55920	broad.mit.edu	37	chr1	17735597	17735597	+	Frame_Shift_Del	DEL	G	G	-													ccgggagcatcagagggttcGggggttgtattctggcagtt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:17735596_17735596CG>C	uc001bal.3	-	11	1608	c.1559_1559CG>G	c.(1558-1560)cgafs	p.R520fs	RCC2_uc001bam.3_Frame_Shift_Del_p.R520fs	NM_001136204	NP_061185	Q9P258	RCC2_HUMAN	Homo sapiens regulator of chromosome condensation 2 (RCC2), transcript variant 2, mRNA.	520					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		TCAGAGGGTTCGGGGGTTGTA	0.527													-	17735597	G	-	17735597	7	5	98	1	0	1	0	1	0	0	0	0	13174	1124	39	0	14	0	RCC2	1	17735597	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	1275562	17735597	231515024	26	64356											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17945850	17945850	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtgactcggaggaggaGgacatggggctcctggaggt	19	8	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:17945850G>C	uc001ban.2	+	10	1011	c.852G>C	c.(850-852)GAG>GAC	p.E284D	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.E245D|ARHGEF10L_uc001bao.2_Missense_Mutation_p.E245D|ARHGEF10L_uc001bap.2_Missense_Mutation_p.E245D|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.E42D|ARHGEF10L_uc001baq.2_Missense_Mutation_p.E50D|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.E62D|ARHGEF10L_uc001bar.2_Missense_Mutation_p.E62D	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	284					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CGGAGGAGGAGGACATGGGGC	0.652													C	17945850	G	C	17945850	3	2	98	1	0	0	0	0	1	0	0	0	895	991	35	5	886	5	ARHGEF10L	1	17945850	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	210253	17945850	231304771	27	64357											
UBR4	23352	broad.mit.edu	37	chr1	19404515	19404515	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagggcccaaaagagaagGgaagaacggtaagcggaata	15	6	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:19404515G>A	uc001bbi.2	-	104	15283	c.15279C>T	c.(15277-15279)TCC>TCT	p.S5093S	UBR4_uc001bbe.1_5'Flank|UBR4_uc001bbf.2_5'UTR|UBR4_uc010ocv.1_Silent_p.S616S|UBR4_uc009vph.2_Silent_p.S727S|UBR4_uc010ocw.1_Silent_p.S757S|UBR4_uc001bbg.2_Silent_p.S804S|UBR4_uc001bbh.2_Silent_p.S802S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	5093					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAAAGAGAAGGGAAGAACGGT	0.468													A	19404515	G	A	19404515	2	1	98	1	0	0	0	0	0	0	0	1	16901	1219	43	4		4	UBR4	1	19404515	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1458665	19404515	229846106	28	64358											
UBR4	23352	broad.mit.edu	37	chr1	19433462	19433462	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcctcaacggggacatccTggaggaggcaagtggagcaa	17	9	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:19433462T>C	uc001bbi.2	-	82	12110	c.12106_splice	c.e82-1	p.D4036_splice	UBR4_uc001bbg.2_5'Flank|UBR4_uc001bbh.2_5'Flank	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600						interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGGGACATCCTGGAGGAGGCA	0.602													C	19433462	T	C	19433462	5	2	98	1	0	0	0	0	0	0	1	0	16901	1594	55	3	3547	3	UBR4	1	19433462	Splice_Site	SNP	T	TCGA-BR-8591-01A-11D-2394-08	28947	19433462	229817159	29	64359											
MRTO4	51154	broad.mit.edu	37	chr1	19583571	19583571	+	Frame_Shift_Del	DEL	A	A	-													ttggtaggatgttctttggcAaaaacaaggtgatgatggtg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:19583570_19583570CA>C	uc001bbs.3	+	3	459	c.204_204CA>C	c.(202-204)ggcfs	p.G68fs		NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN	Homo sapiens mRNA turnover 4 homolog (S. cerevisiae) (MRTO4), mRNA.	68					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGTTCTTTGGCAAAAACAAGG	0.537													-	19583571	A	-	19583571	7	5	98	1	0	1	0	1	0	0	0	0	9852	131	5	0	219	0	MRTO4	1	19583571	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	150109	19583571	229667050	30	64360											
HTR6	3362	broad.mit.edu	37	chr1	19992556	19992556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctctgcctgctctggaccGccttcgacgtgatgtgctgc	12	15	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:19992556G>A	uc001bcl.2	+	1	777	c.310G>A	c.(310-312)GCC>ACC	p.A104T		NM_000871	NP_000862	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6	104	Helical; Name=3; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	GCTCTGGACCGCCTTCGACGT	0.672													A	19992556	G	A	19992556	3	1	98	1	0	0	0	0	1	0	0	0	7451	1087	38	1	312	1	HTR6	1	19992556	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	408985	19992556	229258065	31	64361											
OTUD3	23252	broad.mit.edu	37	chr1	20234193	20234193	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaagcgaagcagaggcgaAcacgcaggtcaccttggtga	14	10	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:20234193A>G	uc001bcs.3	+	8	1270	c.1151A>G	c.(1150-1152)AAC>AGC	p.N384S		NM_015207	NP_056022	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	384											0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGAGGCGAACACGCAGGTC	0.557													G	20234193	A	G	20234193	3	3	98	1	0	0	0	0	1	0	0	0	11313	43	2	3	1181	3	OTUD3	1	20234193	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	241637	20234193	229016428	32	64362											
EIF4G3	8672	broad.mit.edu	37	chr1	21226332	21226332	+	Frame_Shift_Del	DEL	T	T	-													ttttcttccacagctttcacTttttttaggtcagaggggtc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:21226331_21226331CT>C	uc001bec.3	-	10	1946	c.1690_1690AG>G	c.(1690-1692)gtgfs	p.V564fs	EIF4G3_uc010odi.2_Frame_Shift_Del_p.V168fs|EIF4G3_uc010odj.2_Frame_Shift_Del_p.V563fs|EIF4G3_uc009vpz.3_Frame_Shift_Del_p.V284fs|EIF4G3_uc001bef.3_Frame_Shift_Del_p.V563fs|EIF4G3_uc001bee.3_Frame_Shift_Del_p.V570fs	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	564					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACAGCTTTCACTTTTTTTAGG	0.438													-	21226332	T	-	21226332	7	5	98	1	0	1	0	1	0	0	0	0	5038	1606	56	0	3156	0	EIF4G3	1	21226332	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	992139	21226332	228024289	33	64363											
ECE1	1889	broad.mit.edu	37	chr1	21599373	21599373	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggagctggtcactgagacAcaagcttcgctcaggcacac	11	12	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:21599373A>G	uc001bek.2	-	4	387	c.312T>C	c.(310-312)TGT>TGC	p.C104C	ECE1_uc001bem.2_Silent_p.C88C|ECE1_uc001bej.2_Silent_p.C92C|ECE1_uc001bei.2_Silent_p.C101C|ECE1_uc010odl.1_Silent_p.C104C|ECE1_uc009vqa.1_Silent_p.C104C	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	104	Extracellular (Potential).				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			ovary(2)|skin(1)	3		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TCACTGAGACACAAGCTTCGC	0.602													G	21599373	A	G	21599373	2	3	98	1	0	0	0	0	0	0	0	1	4889	157	6	3		3	ECE1	1	21599373	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	373041	21599373	227651248	34	64364											
EPHB2	2048	broad.mit.edu	37	chr1	23191443	23191443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctggagtggacccctccCcgcgactccggaggccgaga	14	15	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:23191443C>T	uc009vqj.1	+	5	1186	c.1041C>T	c.(1039-1041)CCC>CCT	p.P347P	EPHB2_uc001bge.2_Silent_p.P347P|EPHB2_uc001bgf.2_Silent_p.P347P|EPHB2_uc010odu.1_Silent_p.P347P|hsa-mir-4253|MI0015860_5'Flank	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	347	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GGACCCCTCCCCGCGACTCCG	0.652									Hereditary_Prostate_Cancer				T	23191443	C	T	23191443	2	4	98	1	0	0	0	0	0	0	0	1	5175	610	22	4		4	EPHB2	1	23191443	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1592070	23191443	226059178	35	64365											
EPHB2	2048	broad.mit.edu	37	chr1	23235636	23235636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatgtcctatggggagcGgccctactgggacatgacca	15	10	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:23235636G>A	uc009vqj.1	+	13	2619	c.2474G>A	c.(2473-2475)CGG>CAG	p.R825Q	EPHB2_uc001bge.2_Missense_Mutation_p.R826Q|EPHB2_uc001bgf.2_Missense_Mutation_p.R825Q|EPHB2_uc010odu.1_Missense_Mutation_p.R767Q	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	825	Cytoplasmic (Potential).|Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TATGGGGAGCGGCCCTACTGG	0.602									Hereditary_Prostate_Cancer				A	23235636	G	A	23235636	3	1	98	1	0	0	0	0	1	0	0	0	5175	1116	39	1	2527	1	EPHB2	1	23235636	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	44193	23235636	226014985	36	64366											
KDM1A	23028	broad.mit.edu	37	chr1	23398631	23398631	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcaggaatatgatgaattAgctgaaacacaaggaaagct	9	5	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:23398631A>G	uc001bgi.2	+	12	1640	c.1491A>G	c.(1489-1491)TTA>TTG	p.L497L	KDM1A_uc001bgj.2_Silent_p.L521L	NM_015013	NP_055828	O60341	KDM1A_HUMAN	lysine-specific histone demethylase 1 isoform b	497	Potential.|Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2						ATGATGAATTAGCTGAAACAC	0.388													G	23398631	A	G	23398631	2	3	98	1	0	0	0	0	0	0	0	1	8122	417	15	3		3	KDM1A	1	23398631	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	162995	23398631	225851990	37	64367											
ASAP3	55616	broad.mit.edu	37	chr1	23762466	23762466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggctcaggtgtgcaccGgcgtgcaaacctatgctcca	12	13	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:23762466G>A	uc001bha.2	-	17	1751	c.1627C>T	c.(1627-1629)CGG>TGG	p.R543W	ASAP3_uc001bgy.1_Missense_Mutation_p.R47W|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Missense_Mutation_p.R412W|ASAP3_uc010oea.1_Missense_Mutation_p.R534W|ASAP3_uc001bhb.2_Missense_Mutation_p.R66W	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	543	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						GGTGTGCACCGGCGTGCAAAC	0.572													A	23762466	G	A	23762466	3	1	98	1	0	0	0	0	1	0	0	0	1012	1115	39	1	1120	1	ASAP3	1	23762466	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	363835	23762466	225488155	38	64368											
ARID1A	8289	broad.mit.edu	37	chr1	27107166	27107166	+	Frame_Shift_Del	DEL	G	G	-													ctgtacgaatcacggctgttGgacatctcggtatcaccgtt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:27107165_27107165TG>T	uc001bmv.1	+	19	7149	c.6776_6776TG>T	c.(6775-6777)ttgfs	p.L2259fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.L2042fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.L1105fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.L587fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.L501fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2259					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.L2259fs*2(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCACGGCTGTTGGACATCTCG	0.527			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27107166	G	-	27107166	7	5	98	1	0	1	0	1	0	0	0	0	913	1339	47	0	6855	0	ARID1A	1	27107166	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	3344700	27107166	222143455	39	64369											
WDTC1	23038	broad.mit.edu	37	chr1	27624461	27624461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaccaccatacctggagcGtgtgaaacagcaagccaatg	10	12	0	1	rs149286456		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:27624461G>A	uc009vst.2	+	12	1626	c.1091G>A	c.(1090-1092)CGT>CAT	p.R364H	WDTC1_uc001bno.2_Missense_Mutation_p.R363H|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Missense_Mutation_p.R42H	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	364	TPR 1.						protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		TACCTGGAGCGTGTGAAACAG	0.552													A	27624461	G	A	27624461	3	1	98	1	0	0	0	0	1	0	0	0	17339	1145	40	1	1130	1	WDTC1	1	27624461	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	517295	27624461	221626160	40	64370											
MAP3K6	9064	broad.mit.edu	37	chr1	27685239	27685239	+	Frame_Shift_Del	DEL	G	G	-													gggctcccgagctcgtggaaGggggggcgacctgtggccat					rs34008139		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:27685238_27685238AG>A	uc001bny.1	-	18	2794	c.2545_2545CT>T	c.(2545-2547)ttcfs	p.F849fs	MAP3K6_uc009vsw.1_Frame_Shift_Del_p.F841fs|MAP3K6_uc001bnz.1_Frame_Shift_Del_p.F372fs	NM_004672	NP_004663	O95382	M3K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.	849	Protein kinase.				activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding	p.F709fs*40(1)		breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGCTCGTGGAAGGGGGGGCGA	0.622													-	27685239	G	-	27685239	7	5	98	1	0	1	0	1	0	0	0	0	9254	987	35	0	1366	0	MAP3K6	1	27685239	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	60778	27685239	221565382	41	64371											
PTAFR	5724	broad.mit.edu	37	chr1	28476598	28476598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcatttccggctactgCgcatgctgtagaacttttcg	12	10	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:28476598C>T	uc001bpl.2	-	2	1062	c.935G>A	c.(934-936)CGC>CAC	p.R312H	PTAFR_uc001bpm.3_Missense_Mutation_p.R312H|PTAFR_uc009vte.2_Missense_Mutation_p.R312H	NM_000952	NP_000943	P25105	PTAFR_HUMAN	platelet-activating factor receptor	312	Cytoplasmic (Potential).				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CCGGCTACTGCGCATGCTGTA	0.517													T	28476598	C	T	28476598	3	4	98	1	0	0	0	0	1	0	0	0	12723	768	27	1	97	1	PTAFR	1	28476598	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	791359	28476598	220774023	42	64372											
DNAJC8	22826	broad.mit.edu	37	chr1	28541456	28541456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaatagtactgtacctgccGaaacctcttttttatttctt	5	9	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:28541456G>A	uc001bpn.2	-	3	265	c.232C>T	c.(232-234)CGG>TGG	p.R78W	DNAJC8_uc001bpo.2_RNA	NM_014280	NP_055095	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	78	J.				nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		TGTACCTGCCGAAACCTCTTT	0.318													A	28541456	G	A	28541456	3	1	98	1	0	0	0	0	1	0	0	0	4655	1057	37	1	557	1	DNAJC8	1	28541456	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	64858	28541456	220709165	43	64373											
BAI2	576	broad.mit.edu	37	chr1	32207532	32207532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacgtcttagagcacaggCtccacgcattccatggcccc	8	17	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:32207532C>T	uc001btn.2	-	9	1808	c.1454G>A	c.(1453-1455)AGC>AAC	p.S485N	BAI2_uc010ogo.1_Missense_Mutation_p.S127N|BAI2_uc010ogp.1_Missense_Mutation_p.S418N|BAI2_uc010ogq.1_Missense_Mutation_p.S485N|BAI2_uc001bto.2_Missense_Mutation_p.S485N|BAI2_uc001btq.1_Missense_Mutation_p.S418N|BAI2_uc010ogr.1_Missense_Mutation_p.S418N	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	485	TSP type-1 4.|Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGAGCACAGGCTCCACGCATT	0.647													T	32207532	C	T	32207532	3	4	98	1	0	0	0	0	1	0	0	0	1299	797	28	2	3403	2	BAI2	1	32207532	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3666076	32207532	217043089	44	64374											
SYNC	81493	broad.mit.edu	37	chr1	33160673	33160675	+	In_Frame_Del	DEL	CTC	CTC	-													cgcaggaactgaggctcataCtcctcctccaggtcctggcg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:33160672_33160674ACTC>A	uc001bvt.2	-	1	1125_1127	c.1025_1027GAGT>T	c.(1024-1029)gagtat>gTat	p.342_343EY>V	SYNC_uc010ohl.1_In_Frame_Del_p.342_343EY>V	NM_030786	NP_110413	Q9H7C4	SYNCI_HUMAN	Homo sapiens syncoilin, intermediate filament protein (SYNC), transcript variant 1, mRNA.	342	Linker 2.					intermediate filament|perinuclear region of cytoplasm	structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGAGGCTCATACTCCTCCTCCAG	0.571													-	33160675	CTC	-	33160673	7	5	98	1	0	1	0	1	0	0	0	0	15440	564	20	0	500	0	SYNC	1	33160673	In_Frame_Del	DEL	CTC	TCGA-BR-8591-01A-11D-2394-08	953141	33160673	216089948	45	64375											
RNF19B	127544	broad.mit.edu	37	chr1	33413904	33413904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacaggtcatgtgattaCagcttccatcattcatcttg	7	11	4	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:33413904C>T	uc010oho.1	-	3	905	c.905G>A	c.(904-906)TGT>TAT	p.C302Y	RNF19B_uc001bwm.3_Missense_Mutation_p.C301Y|RNF19B_uc010ohp.1_Missense_Mutation_p.C301Y	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B isoform a	302	RING-type 2.					integral to membrane	ligase activity|protein binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CATGTGATTACAGCTTCCATC	0.443													T	33413904	C	T	33413904	3	4	98	1	0	0	0	0	1	0	0	0	13471	478	17	4	1347	4	RNF19B	1	33413904	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	253231	33413904	215836717	46	64376											
GJB4	127534	broad.mit.edu	37	chr1	35227066	35227066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctatgacgagttcttccccGtgtcccacgtgcgcctctgg	11	15	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:35227066G>A	uc001bxv.1	+	2	581	c.211G>A	c.(211-213)GTG>ATG	p.V71M	GJB4_uc001bxw.3_Missense_Mutation_p.V71M	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4	71	Extracellular (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity			ovary(2)|central_nervous_system(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GTTCTTCCCCGTGTCCCACGT	0.637													A	35227066	G	A	35227066	3	1	98	1	0	0	0	0	1	0	0	0	6410	1145	40	1	213	1	GJB4	1	35227066	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1813162	35227066	214023555	47	64377											
GJB4	127534	broad.mit.edu	37	chr1	35227334	35227334	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaggattatgacatgccccGcgtggtggcctgctccgtgg	14	12	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:35227334G>T	uc001bxv.1	+	2	849	c.479G>T	c.(478-480)CGC>CTC	p.R160L	GJB4_uc001bxw.3_Missense_Mutation_p.R160L	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4	160	Extracellular (Potential).		R -> C (may be associated with deafness).		cell communication	connexon complex|integral to membrane	gap junction channel activity			ovary(2)|central_nervous_system(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GACATGCCCCGCGTGGTGGCC	0.577													T	35227334	G	T	35227334	3	4	98	1	0	0	0	0	1	0	0	0	6410	1087	38	5	481	5	GJB4	1	35227334	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	268	35227334	214023287	48	64378											
ZMYM4	9202	broad.mit.edu	37	chr1	35825031	35825031	+	Frame_Shift_Del	DEL	T	T	-													gattcaaggttgaaaagcagTttttttgataaagcaggtaa							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:35825030_35825030GT>G	uc001byt.3	+	2	670	c.590_590GT>G	c.(589-591)agtfs	p.S197fs	ZMYM4_uc009vuu.3_Frame_Shift_Del_p.S165fs|ZMYM4_uc001byu.3_Intron|ZMYM4_uc009vuv.3_5'UTR	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	197					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGAAAAGCAGTTTTTTTGAT	0.299													-	35825031	T	-	35825031	7	5	98	1	0	1	0	1	0	0	0	0	17699	1722	60	0	601	0	ZMYM4	1	35825031	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	597697	35825031	213425590	49	64379											
ZMYM4	9202	broad.mit.edu	37	chr1	35870723	35870723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacactgaaatacatgtatGgggtaaatgcttggaagaac	11	5	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:35870723G>A	uc001byt.2	+	24	3708	c.3628G>A	c.(3628-3630)GGG>AGG	p.G1210R	ZMYM4_uc009vuu.2_Missense_Mutation_p.G1178R|ZMYM4_uc001byu.2_Missense_Mutation_p.G886R|ZMYM4_uc009vuv.2_Missense_Mutation_p.G949R	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	1210					multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATACATGTATGGGGTAAATGC	0.478													A	35870723	G	A	35870723	3	1	98	1	0	0	0	0	1	0	0	0	17699	1348	47	4	3722	4	ZMYM4	1	35870723	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	45692	35870723	213379898	50	64380											
EIF2C4	192670	broad.mit.edu	37	chr1	36291026	36291026	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttagaagctttggctgggcActtgaatgaagtcccagatg	12	7	0	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:36291026A>G	uc001bzj.1	+	4	609	c.419A>G	c.(418-420)CAC>CGC	p.H140R		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	eukaryotic translation initiation factor 2C, 4	140					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)				TTGGCTGGGCACTTGAATGAA	0.448													G	36291026	A	G	36291026	3	3	98	1	0	0	0	0	1	0	0	0	5008	159	6	3	433	3	EIF2C4	1	36291026	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	420303	36291026	212959595	51	64381											
ZC3H12A	80149	broad.mit.edu	37	chr1	37948726	37948726	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccaggattgcctggactcGggcattggctccctggagag	14	12	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:37948726G>T	uc001cbb.3	+	6	1464	c.1314G>T	c.(1312-1314)TCG>TCT	p.S438S	ZC3H12A_uc001cbc.1_Silent_p.S233S	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	438					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCTGGACTCGGGCATTGGCT	0.662													T	37948726	G	T	37948726	2	4	98	1	0	0	0	0	0	0	0	1	17558	1103	39	5		5	ZC3H12A	1	37948726	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1657700	37948726	211301895	52	64382											
RSPO1	284654	broad.mit.edu	37	chr1	38095330	38095330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccacacacagcccaagccGcatagtcacgcgccagctcc	7	20	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:38095330G>A	uc001cbl.1	-	4	792	c.4C>T	c.(4-6)CGG>TGG	p.R2W	RSPO1_uc001cbm.1_Missense_Mutation_p.R2W|RSPO1_uc009vvf.1_Intron|RSPO1_uc009vvg.1_Missense_Mutation_p.R2W	NM_001038633	NP_001033722	Q2MKA7	RSPO1_HUMAN	R-spondin1 precursor	2					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCCCAAGCCGCATAGTCACG	0.642													A	38095330	G	A	38095330	3	1	98	1	0	0	0	0	1	0	0	0	13709	1086	38	1	807	1	RSPO1	1	38095330	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	146604	38095330	211155291	53	64383											
EPHA10	284656	broad.mit.edu	37	chr1	38197190	38197190	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtagcgggtagccggcttcAggttggtgacggtgactgtg	18	8	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:38197190A>G	uc009vvi.2	-	7	1642	c.1556T>C	c.(1555-1557)CTG>CCG	p.L519P	EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	519	Fibronectin type-III 2.|Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCCGGCTTCAGGTTGGTGAC	0.602													G	38197190	A	G	38197190	3	3	98	1	0	0	0	0	1	0	0	0	5166	188	7	3	1514	3	EPHA10	1	38197190	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	101860	38197190	211053431	54	64384											
SF3A3	10946	broad.mit.edu	37	chr1	38449889	38449889	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtaacagtcatggagatcGagataacgaccatatccctc	9	10	1	2	rs139312538	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:38449889G>A	uc001cci.2	-	6	544	c.420C>T	c.(418-420)CTC>CTT	p.L140L	SF3A3_uc010oik.1_Silent_p.L87L	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3	140					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CATGGAGATCGAGATAACGAC	0.458													A	38449889	G	A	38449889	2	1	98	1	0	0	0	0	0	0	0	1	14148	1045	37	1		1	SF3A3	1	38449889	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	252699	38449889	210800732	55	64385											
MACF1	23499	broad.mit.edu	37	chr1	39775307	39775307	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgttaacaccaaaagccTtatctcttggaactatctgc	6	11	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:39775307T>G	uc010ois.1	+	25	3075	c.2870T>G	c.(2869-2871)CTT>CGT	p.L957R	MACF1_uc001cda.1_Missense_Mutation_p.L865R|MACF1_uc001cdc.1_Missense_Mutation_p.L44R|MACF1_uc009vvq.1_Missense_Mutation_p.L14R|MACF1_uc001cdb.1_Missense_Mutation_p.L44R	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	957					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACCAAAAGCCTTATCTCTTGG	0.413													G	39775307	T	G	39775307	3	3	98	1	0	0	0	0	1	0	0	0	9144	1609	56	5	2960	5	MACF1	1	39775307	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1325418	39775307	209475314	56	64386											
MACF1	23499	broad.mit.edu	37	chr1	39818828	39818828	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctagcttggagaaaggagcCttggacaccactgatggtta	13	8	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:39818828C>A	uc010oiu.1	+	8	6800	c.6669C>A	c.(6667-6669)GCC>GCA	p.A2223A	MACF1_uc010ois.1_Silent_p.A1721A|MACF1_uc001cda.1_Silent_p.A1629A|MACF1_uc001cdc.1_Silent_p.A808A|MACF1_uc001cdb.1_Silent_p.A808A	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3788					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAAGGAGCCTTGGACACCA	0.488													A	39818828	C	A	39818828	2	1	98	1	0	0	0	0	0	0	0	1	9144	668	24	5		5	MACF1	1	39818828	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	43521	39818828	209431793	57	64387											
TRIT1	54802	broad.mit.edu	37	chr1	40312897	40312897	+	Frame_Shift_Del	DEL	A	A	-													aaacatgagacttactgctcAaaaaacggtttttaacccat							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:40312896_40312896CA>C	uc021olz.1	-	7	1016	c.1002_1002TG>G	c.(1000-1002)ttgfs	p.L334fs	TRIT1_uc001ced.4_Frame_Shift_Del_p.L30fs|TRIT1_uc001cee.4_Non-coding_Transcript|TRIT1_uc001cef.4_Non-coding_Transcript|TRIT1_uc001ceg.4_Frame_Shift_Del_p.L88fs|TRIT1_uc001ceh.4_Frame_Shift_Del_p.L88fs|TRIT1_uc009vvv.3_Intron|TRIT1_uc001cei.4_Frame_Shift_Del_p.L88fs|TRIT1_uc001cec.4_Non-coding_Transcript|TRIT1_uc001ceq.3_Frame_Shift_Del_p.L30fs|TRIT1_uc001cek.3_Frame_Shift_Del_p.L30fs|TRIT1_uc009vvx.3_Intron|TRIT1_uc001cel.3_Intron|TRIT1_uc001cem.3_Frame_Shift_Del_p.L252fs|TRIT1_uc001cen.3_Frame_Shift_Del_p.L88fs|TRIT1_uc001ceo.3_Frame_Shift_Del_p.L88fs|TRIT1_uc001cep.3_Frame_Shift_Del_p.L88fs	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	Homo sapiens tRNA isopentenyltransferase 1 (TRIT1), mRNA.	334					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACTTACTGCTCAAAAAACGGT	0.368													-	40312897	A	-	40312897	7	5	98	1	0	1	0	1	0	0	0	0	16557	131	5	0	418	0	TRIT1	1	40312897	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	494069	40312897	208937724	58	64388											
RLF	6018	broad.mit.edu	37	chr1	40701518	40701518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgtcagagctcttcaaCtcagatcaagtgaagatgag	11	7	5	5			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:40701518C>T	uc001cfc.3	+	8	1175	c.1144C>T	c.(1144-1146)CTC>TTC	p.L382F	RLF_uc001cfd.3_Missense_Mutation_p.L73F	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	382					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGCTCTTCAACTCAGATCAAG	0.373													T	40701518	C	T	40701518	3	4	98	1	0	0	0	0	1	0	0	0	13389	565	20	4	1174	4	RLF	1	40701518	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	388621	40701518	208549103	59	64389											
DEM1	64789	broad.mit.edu	37	chr1	40981196	40981196	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcattatatggcctactggaTgggccaccgagagccccagg	13	12	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:40981196T>C	uc001cfp.2	+	3	1185	c.980T>C	c.(979-981)ATG>ACG	p.M327T	DEM1_uc001cfq.2_Missense_Mutation_p.M327T|DEM1_uc001cfr.2_Missense_Mutation_p.M327T|DEM1_uc001cfs.2_Missense_Mutation_p.M327T	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	defects in morphology 1 homolog	327							DNA binding|exonuclease activity				0						GCCTACTGGATGGGCCACCGA	0.542													C	40981196	T	C	40981196	3	2	98	1	0	0	0	0	1	0	0	0	4425	1464	51	3	982	3	DEM1	1	40981196	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	279678	40981196	208269425	60	64390											
NFYC	4802	broad.mit.edu	37	chr1	41236429	41236429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgcgggccaggacctcGcccagcccatgttcatccag	11	17	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:41236429G>A	uc001cge.2	+	10	1314	c.1306G>A	c.(1306-1308)GCC>ACC	p.A436T	NFYC_uc001cfx.3_Missense_Mutation_p.A332T|NFYC_uc009vwd.2_Missense_Mutation_p.A313T|NFYC_uc001cfz.2_Missense_Mutation_p.A312T|NFYC_uc010ojn.1_Missense_Mutation_p.A275T|NFYC_uc001cfy.3_Missense_Mutation_p.A313T|NFYC_uc001cgc.2_Missense_Mutation_p.A279T|NFYC_uc001cgb.2_Missense_Mutation_p.A417T|NFYC_uc001cgd.3_Missense_Mutation_p.A313T	NM_001142588	NP_001136060	Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma isoform 1	436					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|kidney(1)	3	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			CCAGGACCTCGCCCAGCCCAT	0.667													A	41236429	G	A	41236429	3	1	98	1	0	0	0	0	1	0	0	0	10391	1087	38	1	1032	1	NFYC	1	41236429	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	255233	41236429	208014192	61	64391											
RIMKLA	284716	broad.mit.edu	37	chr1	42880422	42880422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctgtcctcccaggactgtCgagtccaagggagaagaacg	14	11	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:42880422C>T	uc001chi.2	+	5	1091	c.953C>T	c.(952-954)TCG>TTG	p.S318L		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family	318					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						CCAGGACTGTCGAGTCCAAGG	0.522													T	42880422	C	T	42880422	3	4	98	1	0	0	0	0	1	0	0	0	13365	893	31	1	971	1	RIMKLA	1	42880422	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1643993	42880422	206370199	62	64392											
PPCS	79717	broad.mit.edu	37	chr1	42922972	42922972	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcagatttctatgttcctgTctctgaaatgcctgaacaca	7	10	3	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:42922972T>C	uc001chl.2	+	2	627	c.563T>C	c.(562-564)GTC>GCC	p.V188A	ZMYND12_uc001chj.2_5'Flank|ZMYND12_uc010ojt.1_5'Flank|PPCS_uc001chk.2_Missense_Mutation_p.V15A	NM_024664	NP_078940	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase isoform	188					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TATGTTCCTGTCTCTGAAATG	0.493													C	42922972	T	C	42922972	3	2	98	1	0	0	0	0	1	0	0	0	12305	1667	58	3	569	3	PPCS	1	42922972	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	42550	42922972	206327649	63	64393											
SLC2A1	6513	broad.mit.edu	37	chr1	43393339	43393339	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttggagaagcctgcaacGgcaatggcagctggacgtgg	16	9	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:43393339G>A	uc001cik.2	-	9	1740	c.1215C>T	c.(1213-1215)GCC>GCT	p.A405A		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	405	Helical; Name=11; (Potential).		A -> D (in GLUT1DS1).		carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	AGCCTGCAACGGCAATGGCAG	0.552													A	43393339	G	A	43393339	2	1	98	1	0	0	0	0	0	0	0	1	14538	1103	39	1		1	SLC2A1	1	43393339	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	470367	43393339	205857282	64	64394											
DMAP1	55929	broad.mit.edu	37	chr1	44685707	44685707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctgagcccgacacctaCggaggagctggtgcacatgt	14	11	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:44685707C>T	uc001clq.1	+	10	1150	c.1070C>T	c.(1069-1071)ACG>ATG	p.T357M	DMAP1_uc001clr.1_Missense_Mutation_p.T357M|DMAP1_uc001cls.1_Missense_Mutation_p.T357M|DMAP1_uc010oku.1_Missense_Mutation_p.T347M	NM_001034024	NP_001029196	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	357					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					CCGACACCTACGGAGGAGCTG	0.627													T	44685707	C	T	44685707	3	4	98	1	0	0	0	0	1	0	0	0	4576	536	19	1	1104	1	DMAP1	1	44685707	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1292368	44685707	204564914	65	64395											
BEST4	266675	broad.mit.edu	37	chr1	45251767	45251767	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaaaagtagacagagagcGatatcgtcacgtattcgccc	9	11	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:45251767G>A	uc001cmm.2	-	4	664	c.615C>T	c.(613-615)ATC>ATT	p.I205I		NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN	bestrophin 4	205	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GACAGAGAGCGATATCGTCAC	0.493											OREG0013447	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	45251767	G	A	45251767	2	1	98	1	0	0	0	0	0	0	0	1	1407	1048	37	1		1	BEST4	1	45251767	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	566060	45251767	203998854	66	64396											
MUTYH	4595	broad.mit.edu	37	chr1	45798819	45798819	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtggcaacctgggtctgctGcagcatgacctctgagaccc	12	13	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:45798819G>T	uc001cnm.2	-	5	619	c.403C>A	c.(403-405)CAG>AAG	p.Q135K	MUTYH_uc009vxn.2_Intron|MUTYH_uc001cnf.2_Missense_Mutation_p.Q110K|MUTYH_uc009vxo.2_Missense_Mutation_p.Q110K|MUTYH_uc001cng.2_Missense_Mutation_p.Q121K|MUTYH_uc001cnj.2_Missense_Mutation_p.Q18K|MUTYH_uc001cni.2_Missense_Mutation_p.Q110K|MUTYH_uc001cnh.2_Missense_Mutation_p.Q111K|MUTYH_uc001cno.2_Missense_Mutation_p.Q18K|MUTYH_uc001cnk.2_Intron|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Missense_Mutation_p.Q124K|MUTYH_uc009vxp.2_Missense_Mutation_p.Q138K|MUTYH_uc001cnn.2_Missense_Mutation_p.Q125K	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	mutY homolog isoform 1	135					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding				0	Acute lymphoblastic leukemia(166;0.155)					TGGGTCTGCTGCAGCATGACC	0.607			Mis			colorectal		BER_DNA_glycosylases	MUTYH-associated_polyposis				T	45798819	G	T	45798819	3	4	98	1	0	0	0	0	1	0	0	0	9993	1328	46	5	1285	5	MUTYH	1	45798819	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	547052	45798819	203451802	67	64397											
PIK3R3	8503	broad.mit.edu	37	chr1	46521525	46521525	+	Frame_Shift_Del	DEL	T	T	-													gtcaggtttgatgctattcaTttttttatctatttctcggt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:46521525delT	uc001cpb.3	-	7	1639	c.883delA	c.(883-885)ATGfs	p.M295fs	PIK3R3_uc009vyb.2_Intron|PIK3R3_uc009vyc.2_Frame_Shift_Del_p.M312fs|PIK3R3_uc001cpc.3_Frame_Shift_Del_p.M295fs|PIK3R3_uc010olw.1_Frame_Shift_Del_p.M341fs|PIK3R3_uc010olv.1_Frame_Shift_Del_p.M85fs	NM_003629	NP_003620	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3	295					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					ATGCTATTCATTTTTTTATCT	0.428													-	46521525	T	-	46521525	7	5	98	1	0	1	0	1	0	0	0	0	11920	1493	52	0	518	0	PIK3R3	1	46521525	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	722706	46521525	202729096	68	64398											
EPS15	2060	broad.mit.edu	37	chr1	51938555	51938555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtatcaagtctggaagCcctgattttttcaggaaagc	9	9	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:51938555C>T	uc001csq.1	-	3	233	c.141G>A	c.(139-141)GGG>GGA	p.G47G	EPS15_uc009vyz.1_Silent_p.G47G	NM_001981	NP_001972	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway	47	EH 1.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding			lung(1)|kidney(1)	2						AGTCTGGAAGCCCTGATTTTT	0.368			T	MLL	ALL								T	51938555	C	T	51938555	2	4	98	1	0	0	0	0	0	0	0	1	5192	726	26	2		2	EPS15	1	51938555	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	5417030	51938555	197312066	69	64399											
OSBPL9	114883	broad.mit.edu	37	chr1	52238325	52238325	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgatgatgcggaggcagggtCtgtggaggagcacaagagcg	19	6	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:52238325C>A	uc001cst.2	+	14	1119	c.1100C>A	c.(1099-1101)TCT>TAT	p.S367Y	OSBPL9_uc001css.2_Missense_Mutation_p.S372Y|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Missense_Mutation_p.S368Y|OSBPL9_uc001csu.2_Missense_Mutation_p.S377Y|OSBPL9_uc001csv.2_Missense_Mutation_p.S202Y|OSBPL9_uc001csw.2_Missense_Mutation_p.S354Y|OSBPL9_uc001csy.2_Missense_Mutation_p.S189Y|OSBPL9_uc001csz.2_Missense_Mutation_p.S189Y|OSBPL9_uc001cta.2_Missense_Mutation_p.S257Y|OSBPL9_uc001ctb.2_Missense_Mutation_p.S152Y	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9 isoform e	367					lipid transport		lipid binding			central_nervous_system(1)	1						GAGGCAGGGTCTGTGGAGGAG	0.433													A	52238325	C	A	52238325	3	1	98	1	0	0	0	0	1	0	0	0	11284	913	32	5	1258	5	OSBPL9	1	52238325	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	299770	52238325	197012296	70	64400											
ORC1L	4998	broad.mit.edu	37	chr1	52847336	52847336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggctaccagctggatgGcatcatcttcaaaggccttt	9	12	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:52847336G>A	uc001ctt.2	-	14	2330	c.2111C>T	c.(2110-2112)GCC>GTC	p.A704V	ORC1L_uc010oni.1_Missense_Mutation_p.A699V|ORC1L_uc001ctu.2_Missense_Mutation_p.A704V|ORC1L_uc009vzd.2_Missense_Mutation_p.A458V	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	704	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0						CAGCTGGATGGCATCATCTTC	0.383													A	52847336	G	A	52847336	3	1	98	1	0	0	0	0	1	0	0	0	11261	1203	42	2	490	2	ORC1L	1	52847336	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	609011	52847336	196403285	71	64401											
PODN	127435	broad.mit.edu	37	chr1	53543377	53543377	+	Frame_Shift_Del	DEL	C	C	-													aacaacaagctggagaagatCcccccgggggccttcagcga							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:53543376_53543376TC>T	uc001cuv.3	+	6	1070	c.902_902TC>T	c.(901-903)atcfs	p.I301fs	PODN_uc010onr.2_Frame_Shift_Del_p.I282fs|PODN_uc010ons.2_Frame_Shift_Del_p.I159fs|PODN_uc001cuw.3_Frame_Shift_Del_p.I282fs	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	253					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTGGAGAAGATCCCCCCGGGG	0.617													-	53543377	C	-	53543377	7	5	98	1	0	1	0	1	0	0	0	0	12178	845	30	0	929	0	PODN	1	53543377	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	696041	53543377	195707244	72	64402											
PODN	127435	broad.mit.edu	37	chr1	53544147	53544147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggagaagaacgccatccGgagcgtggacgcgaatgtgc	15	10	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:53544147G>A	uc001cuv.2	+	8	1116	c.1109G>A	c.(1108-1110)CGG>CAG	p.R370Q	PODN_uc001cuw.2_Missense_Mutation_p.R351Q|PODN_uc010onr.1_Missense_Mutation_p.R351Q|PODN_uc010ons.1_Missense_Mutation_p.R228Q	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	322	LRR 10.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2						AACGCCATCCGGAGCGTGGAC	0.567													A	53544147	G	A	53544147	3	1	98	1	0	0	0	0	1	0	0	0	12178	1116	39	1	1139	1	PODN	1	53544147	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	770	53544147	195706474	73	64403											
DMRTB1	63948	broad.mit.edu	37	chr1	53925145	53925145	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatggccgacaaaatggtgCgcacccccaagtgctcgaga	11	13	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:53925145C>A	uc001cvq.1	+	1	74	c.19C>A	c.(19-21)CGC>AGC	p.R7S		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal,	7					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CAAAATGGTGCGCACCCCCAA	0.622													A	53925145	C	A	53925145	3	1	98	1	0	0	0	0	1	0	0	0	4590	768	27	5	21	5	DMRTB1	1	53925145	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	380998	53925145	195325476	74	64404											
YIPF1	54432	broad.mit.edu	37	chr1	54331937	54331937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caattgtggccaatgcaacgCgtcggttatcctcacgaaca	9	12	1	0	rs139670932		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:54331937C>T	uc001cvu.2	-	9	1104	c.767G>A	c.(766-768)CGC>CAC	p.R256H	YIPF1_uc001cvv.2_RNA|YIPF1_uc001cvw.2_RNA|YIPF1_uc001cvx.2_RNA|YIPF1_uc001cvy.2_RNA	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	256	Cytoplasmic (Potential).					integral to membrane|transport vesicle				large_intestine(1)|ovary(1)	2						CAATGCAACGCGTCGGTTATC	0.468													T	54331937	C	T	54331937	3	4	98	1	0	0	0	0	1	0	0	0	17474	768	27	1	161	1	YIPF1	1	54331937	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	406792	54331937	194918684	75	64405											
FGGY	55277	broad.mit.edu	37	chr1	60125950	60125950	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccattctctacctggccacAgttcaagccattgctgtaag	8	13	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:60125950A>G	uc001czi.3	+	12	1493	c.1281A>G	c.(1279-1281)ACA>ACG	p.T427T	FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Silent_p.T451T|FGGY_uc001czj.3_Silent_p.T426T|FGGY_uc001czk.3_Silent_p.T315T|FGGY_uc001czl.3_Silent_p.T339T|FGGY_uc001czm.3_Silent_p.T128T	NM_018291	NP_060761	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	427					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(1)	1	all_cancers(7;7.36e-05)					ACCTGGCCACAGTTCAAGCCA	0.458													G	60125950	A	G	60125950	2	3	98	1	0	0	0	0	0	0	0	1	5871	175	7	3		3	FGGY	1	60125950	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	5794013	60125950	189124671	76	64406											
NFIA	4774	broad.mit.edu	37	chr1	61818150	61818150	+	Frame_Shift_Del	DEL	T	T	-													gctgcaggaactggcccaaaTttttctctctcagatttgga							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:61818149_61818149AT>A	uc010oos.2	+	5	945	c.863_863AT>A	c.(862-864)aatfs	p.N288fs	NFIA_uc001czy.3_Frame_Shift_Del_p.N235fs|NFIA_uc001czw.3_Frame_Shift_Del_p.N243fs|NFIA_uc001czv.3_Frame_Shift_Del_p.N243fs	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	243					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						ACTGGCCCAAATTTTTCTCTC	0.383													-	61818150	T	-	61818150	7	5	98	1	0	1	0	1	0	0	0	0	10370	1490	52	0	893	0	NFIA	1	61818150	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	1692200	61818150	187432471	77	64407											
KANK4	163782	broad.mit.edu	37	chr1	62732402	62732402	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacaatgaaaaattagagtAccaagagctggtctgtggtg	12	5	1	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:62732402A>G	uc001dah.3	-	6	2696	c.2319_splice	c.e6+1	p.L773_splice	KANK4_uc001dai.3_Splice_Site_p.L145_splice|KANK4_uc001dag.3_Splice_Site_p.L129_splice	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38											ovary(3)|skin(2)|lung(1)	6						AAATTAGAGTACCAAGAGCTG	0.448													G	62732402	A	G	62732402	5	3	98	1	0	0	0	0	0	0	1	0	7979	405	14	3	686	3	KANK4	1	62732402	Splice_Site	SNP	A	TCGA-BR-8591-01A-11D-2394-08	914252	62732402	186518219	78	64408											
LRRC40	55631	broad.mit.edu	37	chr1	70654896	70654896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctttcagtagcaccaaacGaaagattctgattagcttcc	6	10	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:70654896G>A	uc001der.1	-	2	264	c.212C>T	c.(211-213)TCG>TTG	p.S71L		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	71										ovary(1)	1						AGCACCAAACGAAAGATTCTG	0.403													A	70654896	G	A	70654896	3	1	98	1	0	0	0	0	1	0	0	0	8998	1059	37	1	1652	1	LRRC40	1	70654896	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	7922494	70654896	178595725	79	64409											
ZRANB2	9406	broad.mit.edu	37	chr1	71536538	71536538	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaccttgaacttgagggggAggatgagcgtgatgaagatc	16	5	0	7			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:71536538A>G	uc001dft.2	-	7	722	c.655T>C	c.(655-657)TCC>CCC	p.S219P	ZRANB2_uc001dfs.2_Missense_Mutation_p.S219P	NM_203350	NP_976225	O95218	ZRAB2_HUMAN	zinc finger protein 265 isoform 1	219	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						CTTGAGGGGGAGGATGAGCGT	0.388													G	71536538	A	G	71536538	3	3	98	1	0	0	0	0	1	0	0	0	18220	304	11	3	391	3	ZRANB2	1	71536538	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	881642	71536538	177714083	80	64410											
ASB17	127247	broad.mit.edu	37	chr1	76397950	76397950	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttggacaagaagtcttAccacataatttagtagattt	6	7	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:76397950A>G	uc001dhe.1	-	1	167	c.27T>C	c.(25-27)GGT>GGC	p.G9G	ASB17_uc001dhf.1_RNA	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box-containing 17	9					intracellular signal transduction					ovary(1)	1						AAGAAGTCTTACCACATAATT	0.353													G	76397950	A	G	76397950	2	3	98	1	0	0	0	0	0	0	0	1	1021	378	14	3		3	ASB17	1	76397950	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	4861412	76397950	172852671	81	64411											
PIGK	10026	broad.mit.edu	37	chr1	77587958	77587958	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaataaaatgaaatgcaaAcctggtgtattatctgagct	8	5	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:77587958A>C	uc001dhk.2	-	10	1116	c.1071_splice	c.e10+1	p.Q357_splice	PIGK_uc010orj.1_Splice_Site_p.Q281_splice|PIGK_uc009wbx.2_Splice_Site_p.Q263_splice	NM_005482	NP_005473	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis,						attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			ovary(2)|pancreas(1)	3						TGAAATGCAAACCTGGTGTAT	0.333													C	77587958	A	C	77587958	5	2	98	1	0	0	0	0	0	0	1	0	11890	57	2	5	122	5	PIGK	1	77587958	Splice_Site	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1190008	77587958	171662663	82	64412											
AK5	26289	broad.mit.edu	37	chr1	77987583	77987583	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggggcttcctgattgaCggctatcctcgggaggtgaa	14	10	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:77987583C>T	uc001dhn.2	+	12	1640	c.1383C>T	c.(1381-1383)GAC>GAT	p.D461D	AK5_uc001dho.2_Silent_p.D435D	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5 isoform 1	461	AMP (By similarity).				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			skin(1)	1						TCCTGATTGACGGCTATCCTC	0.582													T	77987583	C	T	77987583	2	4	98	1	0	0	0	0	0	0	0	1	443	535	19	1		1	AK5	1	77987583	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	399625	77987583	171263038	83	64413											
GBP7	388646	broad.mit.edu	37	chr1	89613322	89613323	+	Frame_Shift_Ins	INS	-	-	C													cttctaagtagatattgtgcINSccccccggaacaaagaaagt					rs138127555		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:89613321_89613322G>GC	uc001dna.2	-	7	1432_1433	c.1293_1294C>GC	c.(1291-1296)gggcacfs	p.G431fs	GBP2_uc001dmy.1_Non-coding_Transcript	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	431						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436													C	89613323	-	C	89613322	7	5	98	1	0	1	1	0	0	0	0	0	6279	726	26	0	639	0	GBP7	1	89613322	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	11625739	89613322	159637299	84	64414											
FNBP1L	54874	broad.mit.edu	37	chr1	94012462	94012462	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaatgggggatccagggagTttgcagcctaaattagcaga	13	7	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:94012462T>C	uc001dpw.2	+	11	1164	c.1164T>C	c.(1162-1164)AGT>AGC	p.S388S	FNBP1L_uc001dpv.2_Silent_p.S388S|FNBP1L_uc010otk.1_Silent_p.S266S|FNBP1L_uc010otl.1_Silent_p.S16S	NM_001024948	NP_001020119	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like isoform 1	446	REM.|Interaction with CDC42.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding				0		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		ATCCAGGGAGTTTGCAGCCTA	0.373													C	94012462	T	C	94012462	2	2	98	1	0	0	0	0	0	0	0	1	5966	1722	60	3		3	FNBP1L	1	94012462	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	4399140	94012462	155238159	85	64415											
DBT	1629	broad.mit.edu	37	chr1	100681758	100681758	+	Splice_Site	DEL	A	A	-													aacttcactcagcttaatctAaaaaatgatatattttaatg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:100681757_100681757TA>T	uc001dta.3	-	6	589	c.556_splice	c.e6-1	p.I186_splice	DBT_uc010oug.2_Splice_Site_p.I5_splice|DBT_uc021oqo.1_Splice_Site_p.I186_splice	NM_001918	NP_001909	P11182	ODB2_HUMAN	Homo sapiens dihydrolipoamide branched chain transacylase E2 (DBT), nuclear gene encoding mitochondrial protein, mRNA.	186					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		CAGCTTAATCTAAAAAATGAT	0.303													-	100681758	A	-	100681758	8	5	98	1	0	1	0	1	0	0	1	0	4258	377	13	0		0	DBT	1	100681758	Splice_Site	DEL	A	TCGA-BR-8591-01A-11D-2394-08	6669296	100681758	148568863	86	64416											
VAV3	10451	broad.mit.edu	37	chr1	108115957	108115957	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacacgggatttgaatttatTcatcctcttccacatatgtg	6	9	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:108115957T>C	uc001dvk.1	-	27	2594	c.2540A>G	c.(2539-2541)GAA>GGA	p.E847G	VAV3_uc010ouu.1_Missense_Mutation_p.E279G|VAV3_uc001dvj.1_Missense_Mutation_p.E287G|VAV3_uc010ouv.1_Missense_Mutation_p.E251G|VAV3_uc010ouw.1_Missense_Mutation_p.E875G	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	847	SH3 2.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TTGAATTTATTCATCCTCTTC	0.393													C	108115957	T	C	108115957	3	2	98	1	0	0	0	0	1	0	0	0	17130	1783	62	3	7	3	VAV3	1	108115957	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	7434199	108115957	141134664	87	64417											
AKNAD1	254268	broad.mit.edu	37	chr1	109369927	109369927	+	Splice_Site	DEL	A	A	-													ttctccacgttttgcttcctAaaaaaaggtgcataagatcc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:109369926_109369926TA>T	uc001dwa.3	-	11	2108	c.1839_splice	c.e11-1	p.W613_splice	AKNAD1_uc010ovb.2_Splice_Site_p.W320_splice|AKNAD1_uc001dwb.3_Splice_Site	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	613										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTTGCTTCCTAAAAAAAGGT	0.378													-	109369927	A	-	109369927	8	5	98	1	0	1	0	1	0	0	1	0	464	377	13	0		0	AKNAD1	1	109369927	Splice_Site	DEL	A	TCGA-BR-8591-01A-11D-2394-08	1253970	109369927	139880694	88	64418											
CELSR2	1952	broad.mit.edu	37	chr1	109812696	109812696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatccgacgtaacctgacaGctgccctgggcctggctcag	12	15	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:109812696G>A	uc001dxa.3	+	23	7310	c.7249G>A	c.(7249-7251)GCT>ACT	p.A2417T		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2417	Helical; Name=2; (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TAACCTGACAGCTGCCCTGGG	0.577													A	109812696	G	A	109812696	3	1	98	1	0	0	0	0	1	0	0	0	3222	971	34	2	7339	2	CELSR2	1	109812696	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	442769	109812696	139437925	89	64419											
CELSR2	1952	broad.mit.edu	37	chr1	109813580	109813580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctggaccccgagggctaCgggaaccctgacttctgctg	14	14	1	1	rs139210404		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:109813580C>T	uc001dxa.3	+	25	7576	c.7515C>T	c.(7513-7515)TAC>TAT	p.Y2505Y		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2505	Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCGAGGGCTACGGGAACCCTG	0.647													T	109813580	C	T	109813580	2	4	98	1	0	0	0	0	0	0	0	1	3222	547	19	1		1	CELSR2	1	109813580	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	884	109813580	139437041	90	64420											
GNAI3	2773	broad.mit.edu	37	chr1	110091425	110091425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacttacgggaggacggggAaaaagcggccaaagaagtga	15	7	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:110091425A>G	uc001dxz.2	+	1	240	c.83A>G	c.(82-84)GAA>GGA	p.E28G		NM_006496	NP_006487	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein),	28					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			ovary(1)	1		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		GAGGACGGGGAAAAAGCGGCC	0.642													G	110091425	A	G	110091425	3	3	98	1	0	0	0	0	1	0	0	0	6506	246	9	3	85	3	GNAI3	1	110091425	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	277845	110091425	139159196	91	64421											
CEPT1	10390	broad.mit.edu	37	chr1	111703836	111703836	+	Frame_Shift_Del	DEL	T	T	-													ggacaaaccctgattggatgTttttttgttgttttgcgggg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:111703835_111703835GT>G	uc001eah.1	+	3	754	c.546_546GT>G	c.(544-546)atgfs	p.M182fs	CEPT1_uc001eai.1_Frame_Shift_Del_p.M182fs|CEPT1_uc001eaj.1_Frame_Shift_Del_p.M182fs	NM_001007794	NP_006081	Q9Y6K0	CEPT1_HUMAN	Homo sapiens choline/ethanolamine phosphotransferase 1 (CEPT1), transcript variant 2, mRNA.	182						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	CTGATTGGATGTTTTTTTGTT	0.378													-	111703836	T	-	111703836	7	5	98	1	0	1	0	1	0	0	0	0	3264	1725	60	0	557	0	CEPT1	1	111703836	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	1612411	111703836	137546785	92	64422											
PTPN22	26191	broad.mit.edu	37	chr1	114357544	114357544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattaaatattccaagttgGtggtggattccttggtcctt	9	6	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:114357544G>A	uc001eds.2	-	21	2537	c.2407C>T	c.(2407-2409)CCA>TCA	p.P803S	RSBN1_uc001edq.2_5'Flank|RSBN1_uc001edr.2_5'Flank|PTPN22_uc009wgq.2_Missense_Mutation_p.P748S|PTPN22_uc010owo.1_Missense_Mutation_p.P559S|PTPN22_uc001edt.2_3'UTR	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type	803					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCCAAGTTGGTGGTGGATTC	0.318													A	114357544	G	A	114357544	3	1	98	1	0	0	0	0	1	0	0	0	12787	1261	44	4	20	4	PTPN22	1	114357544	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2653708	114357544	134893077	93	64423											
CSDE1	7812	broad.mit.edu	37	chr1	115276643	115276643	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgtgaattccacatcatcGccaggctgtaaggtttctaa	8	9	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:115276643G>A	uc001efk.2	-	8	1144	c.678C>T	c.(676-678)GGC>GGT	p.G226G	CSDE1_uc001efi.2_Silent_p.G272G|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Silent_p.G195G|CSDE1_uc001efm.2_Silent_p.G241G|CSDE1_uc009wgv.2_Silent_p.G226G|CSDE1_uc001efn.2_Silent_p.G195G	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN	upstream of NRAS isoform 1	226	CSD 3.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACATCATCGCCAGGCTGTA	0.358													A	115276643	G	A	115276643	2	1	98	1	0	0	0	0	0	0	0	1	3929	1074	38	1		1	CSDE1	1	115276643	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	919099	115276643	133973978	94	64424											
ZNF697	90874	broad.mit.edu	37	chr1	120165750	120165750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagcacatgtagggcttctCgcccgtgtgcacgcgctggt	15	12	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:120165750C>T	uc001ehy.1	-	3	1330	c.1216G>A	c.(1216-1218)GAG>AAG	p.E406K		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TAGGGCTTCTCGCCCGTGTGC	0.672													T	120165750	C	T	120165750	3	4	98	1	0	0	0	0	1	0	0	0	18097	893	31	1	425	1	ZNF697	1	120165750	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	4889107	120165750	129084871	95	64425											
ZNF697	90874	broad.mit.edu	37	chr1	120165980	120165980	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtggctcaacagatgcgagCtgaggctgaaggcctcgccg	16	11	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:120165980C>G	uc001ehy.1	-	3	1100	c.986G>C	c.(985-987)AGC>ACC	p.S329T		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	329	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		CAGATGCGAGCTGAGGCTGAA	0.507													G	120165980	C	G	120165980	3	3	98	1	0	0	0	0	1	0	0	0	18097	797	28	5	655	5	ZNF697	1	120165980	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	230	120165980	129084641	96	64426											
PHGDH	26227	broad.mit.edu	37	chr1	120279828	120279828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggaggctcagagccgctGtggggaggaaattgctgttc	16	8	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:120279828G>A	uc001ehz.2	+	8	1111	c.884G>A	c.(883-885)TGT>TAT	p.C295Y	PHGDH_uc009whm.2_Missense_Mutation_p.C193Y|PHGDH_uc001eia.2_Missense_Mutation_p.C295Y|PHGDH_uc009whn.2_Missense_Mutation_p.C295Y|PHGDH_uc001eib.2_Missense_Mutation_p.C261Y	NM_006623	NP_006614	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	295					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			ovary(1)	1	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CAGAGCCGCTGTGGGGAGGAA	0.612													A	120279828	G	A	120279828	3	1	98	1	0	0	0	0	1	0	0	0	11841	1377	48	4	914	4	PHGDH	1	120279828	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	113848	120279828	128970793	97	64427											
PDE4DIP	9659	broad.mit.edu	37	chr1	144873923	144873923	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggtattctggggagttggCaagctgatggggttgctgtt	19	4	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:144873923C>A	uc001elw.3	-	31	5325	c.5034G>T	c.(5032-5034)TTG>TTT	p.L1678F	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.L1634F|PDE4DIP_uc001elv.3_Missense_Mutation_p.L685F	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1678					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGGGAGTTGGCAAGCTGATGG	0.527			T	PDGFRB	MPD								A	144873923	C	A	144873923	3	1	98	1	0	0	0	0	1	0	0	0	11643	709	25	5	2062	5	PDE4DIP	1	144873923	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	24594095	144873923	104376698	98	64428											
BCL9	607	broad.mit.edu	37	chr1	147090821	147090821	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtagaaaacaaactgattcCttctgtaggaagtcctgcca	9	9	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:147090821C>A	uc001epq.2	+	8	1600	c.860C>A	c.(859-861)CCT>CAT	p.P287H	BCL9_uc010ozr.1_Missense_Mutation_p.P213H	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	287	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					AAACTGATTCCTTCTGTAGGA	0.617			T	IGH@|IGL@	B-ALL								A	147090821	C	A	147090821	3	1	98	1	0	0	0	0	1	0	0	0	1381	681	24	5	878	5	BCL9	1	147090821	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2216898	147090821	102159800	99	64429											
BCL9	607	broad.mit.edu	37	chr1	147096167	147096167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatccgacctggagccaccGgaatacctgagtttgatcta	9	12	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:147096167G>A	uc001epq.2	+	10	4428	c.3688G>A	c.(3688-3690)GGA>AGA	p.G1230R	BCL9_uc010ozr.1_Missense_Mutation_p.G1144R	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1230	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					TGGAGCCACCGGAATACCTGA	0.567			T	IGH@|IGL@	B-ALL								A	147096167	G	A	147096167	3	1	98	1	0	0	0	0	1	0	0	0	1381	1117	39	1	3714	1	BCL9	1	147096167	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	5346	147096167	102154454	100	64430											
TARS2	80222	broad.mit.edu	37	chr1	150463946	150463946	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctcgacccttccggAggctagaggcttcacgggat	13	13	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:150463946A>G	uc001euq.2	+	5	596	c.589A>G	c.(589-591)AGG>GGG	p.R197G	TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Missense_Mutation_p.R197G|TARS2_uc009wlt.2_Intron|TARS2_uc009wls.2_Missense_Mutation_p.R197G	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	197					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	ACCCTTCCGGAGGCTAGAGGC	0.547													G	150463946	A	G	150463946	3	3	98	1	0	0	0	0	1	0	0	0	15557	295	11	3	607	3	TARS2	1	150463946	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	3367779	150463946	98786675	101	64431											
PRUNE	58497	broad.mit.edu	37	chr1	151006351	151006351	+	Frame_Shift_Del	DEL	A	A	-													ctgcctcaagtacccaccctAacctccatgcctatcttcaa							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:151006350_151006350TA>T	uc001ewh.1	+	7	1138	c.1002_1002TA>T	c.(1000-1002)cctfs	p.P334fs	PRUNE_uc001ewi.1_Frame_Shift_Del_p.P152fs|PRUNE_uc010pco.1_Frame_Shift_Del_p.P102fs|PRUNE_uc001ewj.1_Frame_Shift_Del_p.P49fs|PRUNE_uc001ewk.1_Frame_Shift_Del_p.P99fs|BNIPL_uc009wmi.2_5'Flank|BNIPL_uc001ewl.2_5'Flank	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	Homo sapiens prune homolog (Drosophila) (PRUNE), mRNA.	334						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTACCCACCCTAACCTCCATG	0.512													-	151006351	A	-	151006351	7	5	98	1	0	1	0	1	0	0	0	0	12640	362	13	0	1033	0	PRUNE	1	151006351	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	542405	151006351	98244270	102	64432											
SEMA6C	10500	broad.mit.edu	37	chr1	151112138	151112138	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcaccagcccctccccTtcttcttcggcttgaagatc	8	16	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:151112138T>C	uc001ewu.2	-	5	573	c.273A>G	c.(271-273)GAA>GAG	p.E91E	SEMA6C_uc001ewv.2_Silent_p.E91E|SEMA6C_uc001eww.2_Silent_p.E91E|SEMA6C_uc010pcq.1_Silent_p.E91E|SEMA6C_uc009wml.1_RNA	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	91	Extracellular (Potential).|Sema.					integral to membrane	receptor activity			ovary(1)|skin(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCCCCTCCCCTTCTTCTTCGG	0.582													C	151112138	T	C	151112138	2	2	98	1	0	0	0	0	0	0	0	1	14041	1606	56	3		3	SEMA6C	1	151112138	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	105787	151112138	98138483	103	64433											
ZNF687	57592	broad.mit.edu	37	chr1	151261038	151261038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccatgatgctccccaatcGctgcagcttcagcgcccacc	7	20	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:151261038G>A	uc001exq.2	+	3	2248	c.2150G>A	c.(2149-2151)CGC>CAC	p.R717H	ZNF687_uc009wmo.2_Missense_Mutation_p.R717H|ZNF687_uc009wmp.2_Missense_Mutation_p.R717H	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	717	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTCCCCAATCGCTGCAGCTTC	0.552													A	151261038	G	A	151261038	3	1	98	1	0	0	0	0	1	0	0	0	18089	1087	38	1	2156	1	ZNF687	1	151261038	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	148900	151261038	97989583	104	64434											
ZNF687	57592	broad.mit.edu	37	chr1	151261079	151261079	+	Frame_Shift_Del	DEL	C	C	-													agcgcatgcataagaatcgaCccccccatgtctgtcctgag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:151261078_151261078AC>A	uc001exq.3	+	2	2288	c.2190_2190AC>A	c.(2188-2190)cgafs	p.R730fs	ZNF687_uc009wmo.3_Frame_Shift_Del_p.R730fs|ZNF687_uc009wmp.3_Frame_Shift_Del_p.R730fs	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	730					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATAAGAATCGACCCCCCCATG	0.582													-	151261079	C	-	151261079	7	5	98	1	0	1	0	1	0	0	0	0	18089	507	18	0	2197	0	ZNF687	1	151261079	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	41	151261079	97989542	105	64435											
PSMB4	5692	broad.mit.edu	37	chr1	151373007	151373007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccatgtacagccggcgctCgaagatgaaccctttgtgga	13	11	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:151373007C>T	uc001eyc.1	+	3	460	c.437C>T	c.(436-438)TCG>TTG	p.S146L	PSMB4_uc010pda.1_Missense_Mutation_p.S146L|PSMB4_uc001eyb.1_3'UTR	NM_002796	NP_002787	P28070	PSB4_HUMAN	proteasome beta 4 subunit	146					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			ovary(2)	2	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGCCGGCGCTCGAAGATGAAC	0.468													T	151373007	C	T	151373007	3	4	98	1	0	0	0	0	1	0	0	0	12679	893	31	1	447	1	PSMB4	1	151373007	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	111928	151373007	97877614	106	64436											
SNX27	81609	broad.mit.edu	37	chr1	151611552	151611552	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcagtgcccatatcggTccccagatacaaacatgtgg	10	12	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:151611552T>C	uc001eyn.1	+	2	516	c.500T>C	c.(499-501)GTC>GCC	p.V167A	SNX27_uc001eyo.2_Missense_Mutation_p.V74A|SNX27_uc001eyp.2_5'UTR	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	sorting nexin family member 27	167	PX.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			ovary(2)|central_nervous_system(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCCATATCGGTCCCCAGATAC	0.463													C	151611552	T	C	151611552	3	2	98	1	0	0	0	0	1	0	0	0	14897	1667	58	3	506	3	SNX27	1	151611552	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	238545	151611552	97639069	107	64437											
FLG2	388698	broad.mit.edu	37	chr1	152326237	152326237	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cactgtggctaaatctctgtCttccagatgttctggaacct	8	11	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:152326237C>G	uc001ezw.3	-	3	4098	c.4025G>C	c.(4024-4026)AGA>ACA	p.R1342T	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1342							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAATCTCTGTCTTCCAGATGT	0.483													G	152326237	C	G	152326237	3	3	98	1	0	0	0	0	1	0	0	0	5923	913	32	5	3154	5	FLG2	1	152326237	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	714685	152326237	96924384	108	64438											
LCE1D	353134	broad.mit.edu	37	chr1	152770558	152770558	+	Frame_Shift_Del	DEL	G	G	-													gactgctgcagccagccctcGgggggctccagctgctgcgg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:152770557_152770557CG>C	uc021ozh.1	+	0	287	c.287_287CG>C	c.(286-288)tcgfs	p.S96fs	LCE1D_uc009wnp.3_Frame_Shift_Del_p.S96fs	NM_178352	NP_848129	Q5T752	LCE1D_HUMAN	Homo sapiens late cornified envelope 1D (LCE1D), mRNA.	96	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCAGCCCTCGGGGGGCTCC	0.652													-	152770558	G	-	152770558	7	5	98	1	0	1	0	1	0	0	0	0	8662	1103	39	0	290	0	LCE1D	1	152770558	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	444321	152770558	96480063	109	64439											
SPRR1A	6698	broad.mit.edu	37	chr1	152957933	152957933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgagccctgcccttcaaCggtcactccagcaccagccc	8	20	2	1	rs151244576		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:152957933C>T	uc009wnu.1	+	2	305	c.227C>T	c.(226-228)ACG>ATG	p.T76M	SPRR1A_uc001faw.2_Missense_Mutation_p.T76M	NM_005987	NP_005978	P35321	SPR1A_HUMAN	small proline-rich protein 1A	76	6.|6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity				0	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCCTTCAACGGTCACTCCA	0.622													T	152957933	C	T	152957933	3	4	98	1	0	0	0	0	1	0	0	0	15094	536	19	1	229	1	SPRR1A	1	152957933	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	187375	152957933	96292688	110	64440											
SPRR2D	6703	broad.mit.edu	37	chr1	153012734	153012735	+	Frame_Shift_Ins	INS	-	-	G													gcagggctcagggcacttcgINSggggtggacatggctctggg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:153012733_153012734C>CG	uc021ozq.1	-	0	89_90	c.89_90G>CG	c.(88-90)ccgfs	p.P30fs	SPRR2D_uc001fbb.2_Frame_Shift_Ins_p.P30fs	NM_006945	NP_008876	P22532	SPR2D_HUMAN	Homo sapiens small proline-rich protein 2D (SPRR2D), mRNA.	30	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].				keratinization	cornified envelope|cytoplasm				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGGCACTTCGGGGGTGGACA	0.619													G	153012735	-	G	153012734	7	5	98	1	0	1	1	0	0	0	0	0	15098	1116	39	0	133	0	SPRR2D	1	153012734	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	54801	153012734	96237887	111	64441											
PGLYRP4	57115	broad.mit.edu	37	chr1	153317826	153317826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctgccccccatgccttgcGagagaccgtggtggagacat	12	13	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:153317826G>A	uc001fbo.2	-	4	237	c.172C>T	c.(172-174)CGC>TGC	p.R58C	PGLYRP4_uc001fbp.2_Missense_Mutation_p.R54C	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein-I-beta	58					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)|skin(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATGCCTTGCGAGAGACCGTG	0.582													A	153317826	G	A	153317826	3	1	98	1	0	0	0	0	1	0	0	0	11796	1058	37	1	973	1	PGLYRP4	1	153317826	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	305092	153317826	95932795	112	64442											
INTS3	65123	broad.mit.edu	37	chr1	153735839	153735839	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagctacagaaggggagGtgggtacagaccttgttctc	13	10	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:153735839G>A	uc009wom.2	+	17	1987	c.1766_splice	c.e17+1	p.S589_splice	INTS3_uc001fct.2_Splice_Site_p.S589_splice|INTS3_uc001fcu.2_Splice_Site_p.S281_splice|INTS3_uc001fcv.2_Splice_Site_p.S383_splice|INTS3_uc010peb.1_Splice_Site_p.S383_splice|INTS3_uc001fcw.2_Splice_Site_p.S102_splice|INTS3_uc010pec.1_Splice_Site_p.S102_splice	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3						DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGAAGGGGAGGTGGGTACAGA	0.527													A	153735839	G	A	153735839	5	1	98	1	0	0	0	0	0	0	1	0	7779	1275	44	4	1829	4	INTS3	1	153735839	Splice_Site	SNP	G	TCGA-BR-8591-01A-11D-2394-08	418013	153735839	95514782	113	64443											
DENND4B	9909	broad.mit.edu	37	chr1	153902880	153902880	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgcccatgctgctggccaGcttgttaaaggcagacttgt	11	11	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:153902880G>T	uc001fdd.1	-	28	4785	c.4384C>A	c.(4384-4386)CTG>ATG	p.L1462M	uc001fdc.1_Intron	NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1462										ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGCTGGCCAGCTTGTTAAAG	0.572													T	153902880	G	T	153902880	3	4	98	1	0	0	0	0	1	0	0	0	4434	962	34	5	110	5	DENND4B	1	153902880	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	167041	153902880	95347741	114	64444											
NUP210L	91181	broad.mit.edu	37	chr1	154026855	154026855	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagaagtgaacgatggatTggggctgggggccaccttca	17	7	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:154026855T>C	uc001fdw.2	-	25	3404	c.3332A>G	c.(3331-3333)CAA>CGA	p.Q1111R	NUP210L_uc009woq.2_Missense_Mutation_p.Q20R|NUP210L_uc010peh.1_Missense_Mutation_p.Q1111R	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	1111						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AACGATGGATTGGGGCTGGGG	0.458													C	154026855	T	C	154026855	3	2	98	1	0	0	0	0	1	0	0	0	10761	1812	63	3	2398	3	NUP210L	1	154026855	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	123975	154026855	95223766	115	64445											
TRIM46	80128	broad.mit.edu	37	chr1	155152179	155152179	+	Frame_Shift_Del	DEL	C	C	-													tcttcctgtgctggcggctgCccccccattcaccacctgcc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:155152178_155152178GC>G	uc001fhs.1	+	7	1439	c.1356_1356GC>G	c.(1354-1356)ctgfs	p.L452fs	TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Frame_Shift_Del_p.L452fs|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Frame_Shift_Del_p.L326fs|TRIM46_uc001fhu.1_Frame_Shift_Del_p.L429fs|TRIM46_uc009wpg.1_Frame_Shift_Del_p.L439fs|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	452	Fibronectin type-III.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGCTGCCCCCCCATT	0.647													-	155152179	C	-	155152179	7	5	98	1	0	1	0	1	0	0	0	0	16518	739	26	0	1387	0	TRIM46	1	155152179	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	1125324	155152179	94098442	116	64446											
CD1C	911	broad.mit.edu	37	chr1	158263068	158263068	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttggtgattctaatagtccTtgtgttatggtttaagaagc	10	5	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:158263068T>A	uc001fru.2	+	5	1248	c.956T>A	c.(955-957)CTT>CAT	p.L319H	CD1C_uc001frv.2_Intron	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	319	Helical; (Potential).				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					CTAATAGTCCTTGTGTTATGG	0.393													A	158263068	T	A	158263068	3	1	98	1	0	0	0	0	1	0	0	0	2976	1609	56	5	974	5	CD1C	1	158263068	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	3110889	158263068	90987553	117	64447											
OR6K6	128371	broad.mit.edu	37	chr1	158725149	158725149	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatcctgcttttgtggcttcCtccttgtgcttcctgagatt	9	11	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:158725149C>A	uc001fsw.1	+	1	544	c.544C>A	c.(544-546)CTC>ATC	p.L182I		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	182	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					TTGTGGCTTCCTCCTTGTGCT	0.473													A	158725149	C	A	158725149	3	1	98	1	0	0	0	0	1	0	0	0	11204	681	24	5	546	5	OR6K6	1	158725149	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	462081	158725149	90525472	118	64448											
COPA	1314	broad.mit.edu	37	chr1	160293315	160293315	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagtttactccacgatcGtgaccctgtagaaaagagtg	10	11	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:160293315G>A	uc009wti.2	-	8	1006	c.612C>T	c.(610-612)CAC>CAT	p.H204H	COPA_uc001fvv.3_Silent_p.H204H|COPA_uc009wtj.1_Silent_p.H150H	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	204	WD 5.				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCCACGATCGTGACCCTGTA	0.433													A	160293315	G	A	160293315	2	1	98	1	0	0	0	0	0	0	0	1	3727	1136	40	1		1	COPA	1	160293315	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1568166	160293315	88957306	119	64449											
OLFML2B	25903	broad.mit.edu	37	chr1	161953870	161953870	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagtccacgtctgagtgGccctgccatcgccagggggt	14	13	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:161953870G>C	uc001gbu.2	-	8	2272	c.1848C>G	c.(1846-1848)GGC>GGG	p.G616G	OLFML2B_uc001gbt.2_Silent_p.G99G|OLFML2B_uc010pkq.1_Silent_p.G617G	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	616	Olfactomedin-like.									skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CGTCTGAGTGGCCCTGCCATC	0.612													C	161953870	G	C	161953870	2	2	98	1	0	0	0	0	0	0	0	1	10858	1190	42	5		5	OLFML2B	1	161953870	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1660555	161953870	87296751	120	64450											
C1orf226	400793	broad.mit.edu	37	chr1	162351994	162351994	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgcggctccagaggcttgGctagaggatgaaaggtgagc	17	8	0	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:162351994G>A	uc001gby.2	+	1	475	c.303G>A	c.(301-303)TGG>TGA	p.W101*	C1orf226_uc010pkt.1_Nonsense_Mutation_p.W144*	NM_001085375	NP_001078844	A1L170	CA226_HUMAN	hypothetical protein LOC400793 isoform 2	101										ovary(1)	1						CAGAGGCTTGGCTAGAGGATG	0.592													A	162351994	G	A	162351994	4	1	98	1	0	0	0	0	0	1	0	0	2032	1212	42	2	438	2	C1orf226	1	162351994	Nonsense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	398124	162351994	86898627	121	64451											
DDR2	4921	broad.mit.edu	37	chr1	162722911	162722911	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgctatcctctgggcatgTcaggaggccagattccagat	12	12	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:162722911T>G	uc001gcf.2	+	5	574	c.109T>G	c.(109-111)TCA>GCA	p.S37A	DDR2_uc001gcg.2_Missense_Mutation_p.S37A	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	37	Extracellular (Potential).|F5/8 type C.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			TCTGGGCATGTCAGGAGGCCA	0.458													G	162722911	T	G	162722911	3	3	98	1	0	0	0	0	1	0	0	0	4337	1667	58	5	115	5	DDR2	1	162722911	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	370917	162722911	86527710	122	64452											
LRRC52	440699	broad.mit.edu	37	chr1	165514113	165514113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgcaactgctctttcctgGacttcgccatcttcttaata	6	12	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:165514113G>A	uc001gde.2	+	1	636	c.580G>A	c.(580-582)GAC>AAC	p.D194N	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	194	Extracellular (Potential).|LRRCT.					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CTCTTTCCTGGACTTCGCCAT	0.522													A	165514113	G	A	165514113	3	1	98	1	0	0	0	0	1	0	0	0	9010	1174	41	4	582	4	LRRC52	1	165514113	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2791202	165514113	83736508	123	64453											
BRP44	25874	broad.mit.edu	37	chr1	167889284	167889284	+	Frame_Shift_Del	DEL	A	A	-													attaacagcaaacagactccAattttttggaataattacaa							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:167889283_167889283CA>C	uc001ges.3	-	3	641	c.281_281TG>G	c.(280-282)tggfs	p.W94fs	BRP44_uc001geu.3_Frame_Shift_Del_p.W94fs|BRP44_uc001get.3_Frame_Shift_Del_p.W94fs	NM_015415	NP_056230	O95563	BR44_HUMAN	Homo sapiens brain protein 44 (BRP44), transcript variant 2, mRNA.	94						mitochondrion				breast(1)|kidney(1)|large_intestine(2)	4	all_hematologic(923;0.215)			KIRC - Kidney renal clear cell carcinoma(1967;0.247)		AAACAGACTCCAATTTTTTGG	0.353													-	167889284	A	-	167889284	7	5	98	1	0	1	0	1	0	0	0	0	1518	130	5	0	111	0	BRP44	1	167889284	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	2375171	167889284	81361337	124	64454											
DCAF6	55827	broad.mit.edu	37	chr1	167962611	167962611	+	Frame_Shift_Del	DEL	T	T	-													ctcttcagattacatatatcTttttgacccgaaagatgata							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:167962610_167962610CT>C	uc001gew.3	+	6	1188	c.835_835CT>C	c.(835-837)cttfs	p.L279fs	DCAF6_uc001gex.3_Frame_Shift_Del_p.L279fs|DCAF6_uc010plk.2_Frame_Shift_Del_p.L248fs|DCAF6_uc001gev.3_Frame_Shift_Del_p.L279fs|DCAF6_uc001gey.3_Frame_Shift_Del_p.L132fs	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	279					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TTACATATATCTTTTTGACCC	0.408													-	167962611	T	-	167962611	7	5	98	1	0	1	0	1	0	0	0	0	4274	1609	56	0	862	0	DCAF6	1	167962611	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	73327	167962611	81288010	125	64455											
C1orf9	51430	broad.mit.edu	37	chr1	172579025	172579025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaccattgcaccccataGccaatggcgacataaaagga	8	11	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:172579025G>A	uc001giq.3	+	24	3707	c.3391G>A	c.(3391-3393)GCC>ACC	p.A1131T	C1orf9_uc009wwd.2_Missense_Mutation_p.A1087T|C1orf9_uc010pmn.1_Missense_Mutation_p.A760T|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	1131					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		GCACCCCATAGCCAATGGCGA	0.373													A	172579025	G	A	172579025	3	1	98	1	0	0	0	0	1	0	0	0	2067	971	34	2	3485	2	C1orf9	1	172579025	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	4616414	172579025	76671596	126	64456											
SERPINC1	462	broad.mit.edu	37	chr1	173886373	173886373	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttacctttttccagaggttaCagttcctatcacattggaat	6	9	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:173886373C>A	uc001gjt.2	-	1	144	c.25G>T	c.(25-27)GTA>TTA	p.V9L		NM_000488	NP_000479	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C, member 1	9					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(1)	1					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	CCAGAGGTTACAGTTCCTATC	0.502													A	173886373	C	A	173886373	3	1	98	1	0	0	0	0	1	0	0	0	14109	478	17	5	1397	5	SERPINC1	1	173886373	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1307348	173886373	75364248	127	64457											
TNN	63923	broad.mit.edu	37	chr1	175097225	175097225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaggccttgagcaaggcGccacctaccctgtctccctt	9	16	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:175097225G>A	uc001gkl.1	+	14	3216	c.3103G>A	c.(3103-3105)GCC>ACC	p.A1035T		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	1035	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGAGCAAGGCGCCACCTACCC	0.527													A	175097225	G	A	175097225	3	1	98	1	0	0	0	0	1	0	0	0	16320	1087	38	1	3153	1	TNN	1	175097225	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1210852	175097225	74153396	128	64458											
TNR	7143	broad.mit.edu	37	chr1	175372558	175372558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctgttgggcaccggagttCggaacagtcatccccgctgt	13	12	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:175372558C>T	uc001gkp.1	-	2	775	c.694G>A	c.(694-696)GAA>AAA	p.E232K	TNR_uc009wwu.1_Missense_Mutation_p.E232K|TNR_uc010pmz.1_Missense_Mutation_p.E232K	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	232	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					CACCGGAGTTCGGAACAGTCA	0.642													T	175372558	C	T	175372558	3	4	98	1	0	0	0	0	1	0	0	0	16335	893	31	1	3462	1	TNR	1	175372558	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	275333	175372558	73878063	129	64459											
RFWD2	64326	broad.mit.edu	37	chr1	176175737	176175737	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgttgcttttgtcctcgtaGgagttgatgagcccgttgca	12	9	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:176175737G>T	uc001gku.1	-	1	634	c.378C>A	c.(376-378)TCC>TCA	p.S126S	RFWD2_uc001gkv.1_Silent_p.S126S|RFWD2_uc001gkw.1_5'UTR	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2 isoform a	126					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						TGTCCTCGTAGGAGTTGATGA	0.617													T	176175737	G	T	176175737	2	4	98	1	0	0	0	0	0	0	0	1	13260	987	35	5		5	RFWD2	1	176175737	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	803179	176175737	73074884	130	64460											
PAPPA2	60676	broad.mit.edu	37	chr1	176564578	176564578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgatgggggtgactgccGcctgcagggccgctgctact	15	12	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:176564578G>A	uc001gkz.2	+	3	3002	c.1838G>A	c.(1837-1839)CGC>CAC	p.R613H	PAPPA2_uc001gky.1_Missense_Mutation_p.R613H|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	613	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						GGTGACTGCCGCCTGCAGGGC	0.587													A	176564578	G	A	176564578	3	1	98	1	0	0	0	0	1	0	0	0	11433	1087	38	1	1844	1	PAPPA2	1	176564578	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	388841	176564578	72686043	131	64461											
FAM5B	57795	broad.mit.edu	37	chr1	177250123	177250123	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctgagagctggttcatgcCtgtgaatgagggcagctttc	13	9	2	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:177250123C>A	uc001glf.2	+	8	2123	c.1811C>A	c.(1810-1812)CCT>CAT	p.P604H	FAM5B_uc001glg.2_Missense_Mutation_p.P499H	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	604						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						TGGTTCATGCCTGTGAATGAG	0.547													A	177250123	C	A	177250123	3	1	98	1	0	0	0	0	1	0	0	0	5593	681	24	5	1837	5	FAM5B	1	177250123	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	685545	177250123	72000498	132	64462											
SOAT1	6646	broad.mit.edu	37	chr1	179304653	179304653	+	Frame_Shift_Del	DEL	T	T	-													aattctaggaattgaagccaTtttttatgaaggaagttggc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:179304652_179304652AT>A	uc001gml.3	+	3	420	c.189_189AT>A	c.(187-189)ccafs	p.P63fs	SOAT1_uc010pni.2_5'UTR|SOAT1_uc001gmm.3_Frame_Shift_Del_p.P5fs|SOAT1_uc010pnj.2_5'UTR|SOAT1_uc010pnk.2_5'UTR	NM_003101	NP_003092	P35610	SOAT1_HUMAN	Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	63					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	AATTGAAGCCATTTTTTATGA	0.378													-	179304653	T	-	179304653	7	5	98	1	0	1	0	1	0	0	0	0	14910	1493	52	0	200	0	SOAT1	1	179304653	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	2054530	179304653	69945968	133	64463											
TDRD5	163589	broad.mit.edu	37	chr1	179632554	179632554	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaggccttgtaaatggaacGaaagtagaagttcataagcc	10	7	2	1	rs149892600		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:179632554G>A	uc001gnf.1	+	15	2665	c.2415G>A	c.(2413-2415)ACG>ACA	p.T805T	TDRD5_uc010pnp.1_Silent_p.T859T|TDRD5_uc001gnh.1_Silent_p.T360T	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	805					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|skin(2)|central_nervous_system(1)	5						TAAATGGAACGAAAGTAGAAG	0.408													A	179632554	G	A	179632554	2	1	98	1	0	0	0	0	0	0	0	1	15730	1045	37	1		1	TDRD5	1	179632554	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	327901	179632554	69618067	134	64464											
TOR1AIP1	26092	broad.mit.edu	37	chr1	179886945	179886945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttttcgtagtgtccgtgcCatccggattgatgggacaga	12	9	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:179886945C>T	uc001gnq.2	+	10	1541	c.1323C>T	c.(1321-1323)GCC>GCT	p.A441A		NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	lamina-associated polypeptide 1B	441	Lumenal (Potential).					integral to membrane|nuclear inner membrane				breast(1)|central_nervous_system(1)	2						GTGTCCGTGCCATCCGGATTG	0.448													T	179886945	C	T	179886945	2	4	98	1	0	0	0	0	0	0	0	1	16369	581	21	4		4	TOR1AIP1	1	179886945	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	254391	179886945	69363676	135	64465											
QSOX1	5768	broad.mit.edu	37	chr1	180166065	180166065	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttacctggacatcagcctcTgtgtggggctctattccctg	10	13	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:180166065T>G	uc001gnz.2	+	12	2212	c.2137T>G	c.(2137-2139)TGT>GGT	p.C713G	QSOX1_uc001gny.2_Intron|QSOX1_uc001goa.2_Intron|QSOX1_uc001goc.2_Intron|FLJ23867_uc001god.3_5'Flank	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	713	Helical; (Potential).				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						CATCAGCCTCTGTGTGGGGCT	0.647													G	180166065	T	G	180166065	3	3	98	1	0	0	0	0	1	0	0	0	12883	1580	55	5	2183	5	QSOX1	1	180166065	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	279120	180166065	69084556	136	64466											
KIAA1614	57710	broad.mit.edu	37	chr1	180905132	180905132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagagggcagaggacacaCgcctgaaggaactctatttt	12	8	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:180905132C>T	uc001gok.2	+	5	2154	c.2087C>T	c.(2086-2088)ACG>ATG	p.T696M	KIAA1614_uc001gol.1_Missense_Mutation_p.T317M|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	696										ovary(3)|skin(1)	4						AGAGGACACACGCCTGAAGGA	0.597													T	180905132	C	T	180905132	3	4	98	1	0	0	0	0	1	0	0	0	8248	536	19	1	2105	1	KIAA1614	1	180905132	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	739067	180905132	68345489	137	64467											
CACNA1E	777	broad.mit.edu	37	chr1	181741239	181741239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggcaggagattatgctgTcatgccttggggagaagggc	16	8	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:181741239T>C	uc001gow.2	+	37	5176	c.5011T>C	c.(5011-5013)TCA>CCA	p.S1671P	CACNA1E_uc009wxs.2_Missense_Mutation_p.S1559P|CACNA1E_uc001gox.1_Missense_Mutation_p.S897P|CACNA1E_uc009wxt.2_Missense_Mutation_p.S897P	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1671	Extracellular (Potential).|IV.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						GATTATGCTGTCATGCCTTGG	0.557													C	181741239	T	C	181741239	3	2	98	1	0	0	0	0	1	0	0	0	2542	1667	58	3	5157	3	CACNA1E	1	181741239	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	836107	181741239	67509382	138	64468											
RGL1	23179	broad.mit.edu	37	chr1	183881389	183881389	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccatggacacccctgatgAgcctcaaaaaaaggtatata	7	11	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:183881389A>G	uc001gqo.2	+	15	1893	c.1736A>G	c.(1735-1737)GAG>GGG	p.E579G	RGL1_uc010pof.1_Missense_Mutation_p.E384G|RGL1_uc001gqm.2_Missense_Mutation_p.E614G|RGL1_uc010pog.1_Missense_Mutation_p.E577G|RGL1_uc010poh.1_Missense_Mutation_p.E577G|RGL1_uc010poi.1_Missense_Mutation_p.E550G	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	579	Ser-rich.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|ovary(4)|lung(2)	11						ACCCCTGATGAGCCTCAAAAA	0.488													G	183881389	A	G	183881389	3	3	98	1	0	0	0	0	1	0	0	0	13276	304	11	3	1899	3	RGL1	1	183881389	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	2140150	183881389	65369232	139	64469											
C1orf25	81627	broad.mit.edu	37	chr1	185108537	185108537	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaattctggctgctagttcCttgtaatattcagttcggac	8	9	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:185108537C>A	uc001grf.3	-	9	1556	c.1284G>T	c.(1282-1284)AAG>AAT	p.K428N	C1orf25_uc010pon.1_Missense_Mutation_p.K272N	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA	428						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0						CTGCTAGTTCCTTGTAATATT	0.403													A	185108537	C	A	185108537	3	1	98	1	0	0	0	0	1	0	0	0	2034	680	24	5	945	5	C1orf25	1	185108537	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1227148	185108537	64142084	140	64470											
B3GALT2	8707	broad.mit.edu	37	chr1	193149709	193149709	+	Frame_Shift_Del	DEL	A	A	-													cggatacctaaagaaactttAaaaatcttttctgccagatc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:193149708_193149708TA>T	uc021pgr.1	-	0	985	c.985_985TA>A	c.(985-987)aaafs	p.K329fs	CDC73_uc001gtb.3_Intron|B3GALT2_uc001gtc.4_Frame_Shift_Del_p.K329fs	NM_003783	NP_003774	O43825	B3GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 (B3GALT2), mRNA.	329					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						AAAGAAACTTTAAAAATCTTT	0.438													-	193149709	A	-	193149709	7	5	98	1	0	1	0	1	0	0	0	0	1248	359	13	0	288	0	B3GALT2	1	193149709	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	8041172	193149709	56100912	141	64471											
ZBTB41	360023	broad.mit.edu	37	chr1	197169466	197169466	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtaacagtgaagagcTtcaggagttggtcttcctgc	12	9	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:197169466T>G	uc001gtx.1	-	1	207	c.138A>C	c.(136-138)GAA>GAC	p.E46D	ZBTB41_uc009wyz.1_RNA|CRB1_uc010poz.1_5'Flank	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						AGTGAAGAGCTTCAGGAGTTG	0.388													G	197169466	T	G	197169466	3	3	98	1	0	0	0	0	1	0	0	0	17540	1606	56	5	2631	5	ZBTB41	1	197169466	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	4019757	197169466	52081155	142	64472											
KIF14	9928	broad.mit.edu	37	chr1	200522536	200522536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacacccactgaatcctacTgggtgtgcattcctctgagc	8	14	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:200522536T>C	uc010ppk.1	-	30	5366	c.4927A>G	c.(4927-4929)AGT>GGT	p.S1643G	KIF14_uc010ppj.1_Missense_Mutation_p.S1152G	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	1643	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						TGAATCCTACTGGGTGTGCAT	0.463													C	200522536	T	C	200522536	3	2	98	1	0	0	0	0	1	0	0	0	8276	1580	55	3	23	3	KIF14	1	200522536	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	3353070	200522536	48728085	143	64473											
KIF14	9928	broad.mit.edu	37	chr1	200574463	200574463	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatgagatcgggaacttttaTcattcataccagtagcagca	8	8	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:200574463T>A	uc010ppk.1	-	8	2133	c.1694A>T	c.(1693-1695)GAT>GTT	p.D565V	KIF14_uc010ppj.1_Missense_Mutation_p.D74V	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	565	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						GGAACTTTTATCATTCATACC	0.393													A	200574463	T	A	200574463	3	1	98	1	0	0	0	0	1	0	0	0	8276	1435	50	5	3344	5	KIF14	1	200574463	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	51927	200574463	48676158	144	64474											
C1orf106	55765	broad.mit.edu	37	chr1	200880605	200880605	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattccttccgggcgggtccTgagggccgaggtcgcagcgc	17	13	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:200880605T>C	uc001gvo.2	+	9	1269	c.1239T>C	c.(1237-1239)CCT>CCC	p.P413P	C1orf106_uc010ppm.1_Silent_p.P328P	NM_018265	NP_060735	Q3KP66	CA106_HUMAN	hypothetical protein LOC55765 isoform 1	413										skin(2)|ovary(1)	3						GGGCGGGTCCTGAGGGCCGAG	0.662													C	200880605	T	C	200880605	2	2	98	1	0	0	0	0	0	0	0	1	1980	1567	55	3		3	C1orf106	1	200880605	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	306142	200880605	48370016	145	64475											
TNNI1	7135	broad.mit.edu	37	chr1	201380608	201380608	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacggactcgacgcaggggCgggcgcttgaacttcccacg	14	14	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:201380608C>T	uc010ppq.1	-	7	426	c.333G>A	c.(331-333)CCG>CCA	p.P111P	TNNI1_uc001gwo.1_RNA|TNNI1_uc001gwp.2_Silent_p.P90P	NM_003281	NP_003272	P19237	TNNI1_HUMAN	troponin I, skeletal, slow	111	Involved in binding TNC and actin.				muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding				0						GACGCAGGGGCGGGCGCTTGA	0.632													T	201380608	C	T	201380608	2	4	98	1	0	0	0	0	0	0	0	1	16323	755	27	1		1	TNNI1	1	201380608	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	500003	201380608	47870013	146	64476											
LGR6	59352	broad.mit.edu	37	chr1	202249955	202249955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctggggacccacagcttcGaggggctgcacaatctggag	14	11	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:202249955G>A	uc001gxu.2	+	6	691	c.691G>A	c.(691-693)GAG>AAG	p.E231K	LGR6_uc001gxv.2_Missense_Mutation_p.E179K|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Intron|LGR6_uc009xac.1_RNA	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	231	LRR 6.|Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						CCACAGCTTCGAGGGGCTGCA	0.572													A	202249955	G	A	202249955	3	1	98	1	0	0	0	0	1	0	0	0	8758	1059	37	1	860	1	LGR6	1	202249955	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	869347	202249955	47000666	147	64477											
LRRN2	10446	broad.mit.edu	37	chr1	204588977	204588977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtccacagtggtagcctcGcggtaggacgagcggggcgt	17	11	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:204588977G>A	uc001hbe.1	-	3	532	c.144C>T	c.(142-144)CGC>CGT	p.R48R	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Silent_p.R48R|LRRN2_uc009xbf.1_Silent_p.R48R|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	48	Extracellular (Potential).|LRRNT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGGTAGCCTCGCGGTAGGACG	0.657													A	204588977	G	A	204588977	2	1	98	1	0	0	0	0	0	0	0	1	9035	1074	38	1		1	LRRN2	1	204588977	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2339022	204588977	44661644	148	64478											
CR2	1380	broad.mit.edu	37	chr1	207649616	207649616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccgcctaagacccctaaCgggaaccatactggtggaaa	9	14	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:207649616C>T	uc001hfw.2	+	14	2671	c.2577C>T	c.(2575-2577)AAC>AAT	p.N859N	CR2_uc001hfv.2_Silent_p.N918N|CR2_uc009xch.2_Intron	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	859	Sushi 14.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						AGACCCCTAACGGGAACCATA	0.502													T	207649616	C	T	207649616	2	4	98	1	0	0	0	0	0	0	0	1	3842	535	19	1		1	CR2	1	207649616	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3060639	207649616	41601005	149	64479											
PLXNA2	5362	broad.mit.edu	37	chr1	208390884	208390884	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctggtagaggctcccacaGgccagcaggcggttctcaga	13	14	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:208390884G>T	uc001hgz.2	-	2	1142	c.384C>A	c.(382-384)GCC>GCA	p.A128A	PLXNA2_uc001hha.3_Silent_p.A182A	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	128	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGCTCCCACAGGCCAGCAGGC	0.592													T	208390884	G	T	208390884	2	4	98	1	0	0	0	0	0	0	0	1	12120	987	35	5		5	PLXNA2	1	208390884	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	741268	208390884	40859737	150	64480											
KCNH1	3756	broad.mit.edu	37	chr1	211256135	211256135	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cccttacctctgccaggcggGagtgcttgtggacattctcg	12	13	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:211256135G>T	uc001hib.2	-	5	715	c.545C>A	c.(544-546)TCC>TAC	p.S182Y	KCNH1_uc001hic.2_Missense_Mutation_p.S182Y	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	182	Cytoplasmic (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGCCAGGCGGGAGTGCTTGTG	0.527													T	211256135	G	T	211256135	3	4	98	1	0	0	0	0	1	0	0	0	8031	1174	41	5	2452	5	KCNH1	1	211256135	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2865251	211256135	37994486	151	64481											
RCOR3	55758	broad.mit.edu	37	chr1	211452638	211452638	+	Frame_Shift_Del	DEL	A	A	-													atgatagtgattatgatcccAaaaaagaagccaaaaaagag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:211452637_211452637CA>C	uc010psw.2	+	6	894	c.699_699CA>C	c.(697-699)cccfs	p.P233fs	RCOR3_uc010psv.1_Non-coding_Transcript|RCOR3_uc001hie.3_Frame_Shift_Del_p.P233fs|RCOR3_uc001hif.3_Frame_Shift_Del_p.P233fs|RCOR3_uc001hig.3_Frame_Shift_Del_p.P175fs	NM_001136223	NP_060724	Q9P2K3	RCOR3_HUMAN	Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA.	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		ATTATGATCCCAAAAAAGAAG	0.318													-	211452638	A	-	211452638	7	5	98	1	0	1	0	1	0	0	0	0	13184	131	5	0	726	0	RCOR3	1	211452638	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	196503	211452638	37797983	152	64482											
PPP2R5A	5525	broad.mit.edu	37	chr1	212506874	212506874	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccgtacacttcctccaagTgataatccagattttgatcc	5	12	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:212506874T>C	uc001hjb.2	+	3	988	c.414T>C	c.(412-414)AGT>AGC	p.S138S	PPP2R5A_uc010ptd.1_Silent_p.S79S	NM_006243	NP_006234	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B	138					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TTCCTCCAAGTGATAATCCAG	0.378													C	212506874	T	C	212506874	2	2	98	1	0	0	0	0	0	0	0	1	12392	1693	59	3		3	PPP2R5A	1	212506874	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1054236	212506874	36743747	153	64483											
PROX1	5629	broad.mit.edu	37	chr1	214170404	214170404	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaatataattcggggtAtgagccattcccccagtgtg	11	8	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:214170404A>G	uc001hkh.2	+	2	798	c.526A>G	c.(526-528)ATG>GTG	p.M176V	PROX1_uc001hkg.1_Missense_Mutation_p.M176V	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	176					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AATTCGGGGTATGAGCCATTC	0.502													G	214170404	A	G	214170404	3	3	98	1	0	0	0	0	1	0	0	0	12560	449	16	3	528	3	PROX1	1	214170404	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1663530	214170404	35080217	154	64484											
PROX1	5629	broad.mit.edu	37	chr1	214170994	214170994	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgtggtcaaagtcttttcGgccaagccctcccgccaggt	10	14	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:214170994G>T	uc001hkh.2	+	2	1388	c.1116G>T	c.(1114-1116)TCG>TCT	p.S372S	PROX1_uc001hkg.1_Silent_p.S372S	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	372					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AAGTCTTTTCGGCCAAGCCCT	0.532													T	214170994	G	T	214170994	2	4	98	1	0	0	0	0	0	0	0	1	12560	1103	39	5		5	PROX1	1	214170994	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	590	214170994	35079627	155	64485											
USH2A	7399	broad.mit.edu	37	chr1	216062234	216062234	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgggtgtaaatgcatcactGtgcaattagtgacatttcca	9	7	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:216062234G>C	uc001hku.1	-	41	8144	c.7757C>G	c.(7756-7758)ACA>AGA	p.T2586R		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2586	Fibronectin type-III 12.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGCATCACTGTGCAATTAGT	0.423										HNSCC(13;0.011)			C	216062234	G	C	216062234	3	2	98	1	0	0	0	0	1	0	0	0	17033	1377	48	5	7979	5	USH2A	1	216062234	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1891240	216062234	33188387	156	64486											
GPATCH2	55105	broad.mit.edu	37	chr1	217793649	217793649	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcacttaagcagtgaccagtCtcccacgggtgatgcacatt	9	12	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:217793649C>T	uc001hlf.1	-	2	345	c.249G>A	c.(247-249)GAG>GAA	p.E83E	GPATCH2_uc001hlg.3_Silent_p.E83E	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	83						intracellular	nucleic acid binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		AGTGACCAGTCTCCCACGGGT	0.438													T	217793649	C	T	217793649	2	4	98	1	0	0	0	0	0	0	0	1	6591	912	32	4		4	GPATCH2	1	217793649	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1731415	217793649	31456972	157	64487											
LYPLAL1	127018	broad.mit.edu	37	chr1	219352518	219352518	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaaggattaagaatgtggAtcaagcaggttttaaatcaa	10	4	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:219352518A>G	uc001hlq.3	+	2	162	c.121A>G	c.(121-123)ATC>GTC	p.I41V	LYPLAL1_uc001hlr.3_Missense_Mutation_p.I41V|LYPLAL1_uc001hls.3_5'UTR|LYPLAL1_uc001hlt.3_5'UTR|LYPLAL1_uc009xds.2_Missense_Mutation_p.I41V	NM_138794	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	41						cytoplasm	lysophospholipase activity				0				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		AAGAATGTGGATCAAGCAGGT	0.299													G	219352518	A	G	219352518	3	3	98	1	0	0	0	0	1	0	0	0	9118	333	12	3	127	3	LYPLAL1	1	219352518	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1558869	219352518	29898103	158	64488											
SLC30A10	55532	broad.mit.edu	37	chr1	220101753	220101753	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaccagcatgaagagcagCcggcacgtcttgccagagta	12	12	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:220101753C>T	uc001hlw.2	-	1	241	c.30G>A	c.(28-30)CGG>CGA	p.R10R	SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlx.2_5'UTR	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	solute carrier family 30 (zinc transporter),	10	Cytoplasmic (Potential).				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TGAAGAGCAGCCGGCACGTCT	0.592													T	220101753	C	T	220101753	2	4	98	1	0	0	0	0	0	0	0	1	14554	726	26	2		2	SLC30A10	1	220101753	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	749235	220101753	29148868	159	64489											
MIA3	375056	broad.mit.edu	37	chr1	222803217	222803217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccatgagaacacagagaaGtacatgggcacagaaagcca	11	9	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:222803217G>A	uc001hnl.2	+	4	2664	c.2655G>A	c.(2653-2655)AAG>AAA	p.K885K	MIA3_uc009xea.1_Silent_p.K721K	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	885	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		ACACAGAGAAGTACATGGGCA	0.522													A	222803217	G	A	222803217	2	1	98	1	0	0	0	0	0	0	0	1	9565	1020	36	4		4	MIA3	1	222803217	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2701464	222803217	26447404	160	64490											
C1orf58	148362	broad.mit.edu	37	chr1	222889064	222889064	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccattggtttcataggaAcccattaaaagccacagctc	7	12	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:222889064A>G	uc001hnq.1	+	2	418	c.23A>G	c.(22-24)AAC>AGC	p.N8S	AIDA_uc001hno.2_5'Flank|AIDA_uc010pus.1_5'Flank|C1orf58_uc010put.1_Missense_Mutation_p.N8S|C1orf58_uc010puu.1_Missense_Mutation_p.N8S|C1orf58_uc010puv.1_Missense_Mutation_p.N8S	NM_144695	NP_653296	Q5VW32	BROX_HUMAN	Bro1-domain-containing protein	8						membrane					0				GBM - Glioblastoma multiforme(131;0.0667)		TTTCATAGGAACCCATTAAAA	0.299													G	222889064	A	G	222889064	3	3	98	1	0	0	0	0	1	0	0	0	2050	43	2	3	25	3	C1orf58	1	222889064	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	85847	222889064	26361557	161	64491											
DISP1	84976	broad.mit.edu	37	chr1	223177683	223177683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctccaggatagcctctccGatggcaccctcattgccatg	8	16	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:223177683G>A	uc001hnu.1	+	8	3091	c.2944G>A	c.(2944-2946)GAT>AAT	p.D982N		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	982					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TAGCCTCTCCGATGGCACCCT	0.507													A	223177683	G	A	223177683	3	1	98	1	0	0	0	0	1	0	0	0	4539	1058	37	1	2970	1	DISP1	1	223177683	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	288619	223177683	26072938	162	64492											
TLR5	7100	broad.mit.edu	37	chr1	223284384	223284384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagataaaacagaagccccGgaactttgtgactgtgagga	11	8	0	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:223284384G>A	uc001hnv.1	-	4	2436	c.1990C>T	c.(1990-1992)CGG>TGG	p.R664W	TLR5_uc001hnw.1_Missense_Mutation_p.R664W	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	664	Cytoplasmic (Potential).		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)		CAGAAGCCCCGGAACTTTGTG	0.443													A	223284384	G	A	223284384	3	1	98	1	0	0	0	0	1	0	0	0	15951	1115	39	1	590	1	TLR5	1	223284384	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	106701	223284384	25966237	163	64493											
NVL	4931	broad.mit.edu	37	chr1	224491429	224491429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcagcaagcctcaccccaGcaattgcatgtgcaagtaat	8	12	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:224491429G>A	uc001hok.2	-	9	999	c.956C>T	c.(955-957)GCT>GTT	p.A319V	NVL_uc001hol.2_Missense_Mutation_p.A213V|NVL_uc010pvd.1_Missense_Mutation_p.A228V|NVL_uc010pve.1_Missense_Mutation_p.A103V|NVL_uc010pvf.1_RNA	NM_002533	NP_002524	O15381	NVL_HUMAN	nuclear VCP-like isoform 1	319						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			skin(2)	2				GBM - Glioblastoma multiforme(131;0.00501)		CCTCACCCCAGCAATTGCATG	0.448													A	224491429	G	A	224491429	3	1	98	1	0	0	0	0	1	0	0	0	10780	971	34	2	1674	2	NVL	1	224491429	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1207045	224491429	24759192	164	64494											
TMEM63A	9725	broad.mit.edu	37	chr1	226044664	226044664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagacaatggaggggagcagGgccgagaaggaccagagcag	18	7	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:226044664G>A	uc001hpm.1	-	16	1681	c.1431C>T	c.(1429-1431)GCC>GCT	p.A477A		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	477	Helical; (Potential).					integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					AGGGGAGCAGGGCCGAGAAGG	0.602													A	226044664	G	A	226044664	2	1	98	1	0	0	0	0	0	0	0	1	16187	1219	43	4		4	TMEM63A	1	226044664	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1553235	226044664	23205957	165	64495											
LEFTY1	10637	broad.mit.edu	37	chr1	226109261	226109261	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagatactgaccagcaaagcCtgggccccgagttggattgc	12	11	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:226109261C>A	uc010pvj.1	-	4	557	c.402G>T	c.(400-402)CAG>CAT	p.Q134H	PYCR2_uc001hpp.2_Intron|PYCR2_uc001hpq.2_Missense_Mutation_p.Q208H|PYCR2_uc001hpr.2_Missense_Mutation_p.Q161H			O75610	LFTY1_HUMAN	SubName: Full=cDNA FLJ54750, moderately similar to Pyrroline-5-carboxylate reductase 2 (EC 1.5.1.2);	Error:Variant_position_missing_in_O75610_after_alignment					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding				0	Breast(184;0.197)					CCAGCAAAGCCTGGGCCCCGA	0.572													A	226109261	C	A	226109261	3	1	98	1	0	0	0	0	1	0	0	0	8715	680	24	5		5	LEFTY1	1	226109261	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	64597	226109261	23141360	166	64496											
ITPKB	3707	broad.mit.edu	37	chr1	226923840	226923840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctccctccactctgtcGgagagctgccaacgcccccc	8	21	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:226923840G>A	uc010pvo.1	-	2	1660	c.1320C>T	c.(1318-1320)TCC>TCT	p.S440S	ITPKB_uc001hqh.2_Silent_p.S440S	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	440							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				CCACTCTGTCGGAGAGCTGCC	0.706													A	226923840	G	A	226923840	2	1	98	1	0	0	0	0	0	0	0	1	7918	1103	39	1		1	ITPKB	1	226923840	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	814579	226923840	22326781	167	64497											
CABC1	56997	broad.mit.edu	37	chr1	227153002	227153002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctgccatgggctttcagcGaaggttcttccaccaggacc	10	14	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:227153002G>A	uc001hqm.1	+	8	3898	c.479G>A	c.(478-480)CGA>CAA	p.R160Q	CABC1_uc010pvp.1_Missense_Mutation_p.R123Q|CABC1_uc001hqn.1_Missense_Mutation_p.R160Q|CABC1_uc009xeq.1_Missense_Mutation_p.R108Q|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_5'Flank	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	160					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				GGCTTTCAGCGAAGGTTCTTC	0.637													A	227153002	G	A	227153002	3	1	98	1	0	0	0	0	1	0	0	0	2527	1058	37	1	485	1	CABC1	1	227153002	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	229162	227153002	22097619	168	64498											
ZNF678	339500	broad.mit.edu	37	chr1	227842415	227842415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagagaaaccctacaaatGtgacgaatgtggcaaagttt	11	6	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:227842415G>A	uc001hqw.1	+	4	809	c.464G>A	c.(463-465)TGT>TAT	p.C155Y	ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	210					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			pancreas(1)	1		Prostate(94;0.0885)				CCCTACAAATGTGACGAATGT	0.348													A	227842415	G	A	227842415	3	1	98	1	0	0	0	0	1	0	0	0	18082	1377	48	4	643	4	ZNF678	1	227842415	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	689413	227842415	21408206	169	64499											
TAF5L	27097	broad.mit.edu	37	chr1	229730519	229730520	+	Frame_Shift_Del	DEL	AC	AC	-													ttgaattagggtggaatttgAcacagtccacatctgccagg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:229730518_229730519GAC>G	uc001htq.3	-	4	1461_1462	c.1295_1296GTC>C	c.(1294-1296)gtcfs	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)				GGTGGAATTTGACACAGTCCAC	0.584													-	229730520	AC	-	229730519	7	5	98	1	0	1	0	1	0	0	0	0	15526	275	10	0	478	0	TAF5L	1	229730519	Frame_Shift_Del	DEL	AC	TCGA-BR-8591-01A-11D-2394-08	1888104	229730519	19520102	170	64500											
PGBD5	79605	broad.mit.edu	37	chr1	230492738	230492738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgtggtctggctggagcGgaaggccacgacgtggaagt	19	8	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:230492738G>A	uc010pwb.1	-	2	454	c.454C>T	c.(454-456)CGC>TGC	p.R152C	PGBD5_uc001htv.2_Missense_Mutation_p.R251C	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	152						integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TGGCTGGAGCGGAAGGCCACG	0.617													A	230492738	G	A	230492738	3	1	98	1	0	0	0	0	1	0	0	0	11784	1116	39	1	937	1	PGBD5	1	230492738	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	762219	230492738	18757883	171	64501											
SIPA1L2	57568	broad.mit.edu	37	chr1	232581284	232581284	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagcattacctcgtgccaTcgggcagcttccggtcgaag	11	14	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:232581284T>C	uc001hvg.2	-	9	3502	c.3344A>G	c.(3343-3345)GAT>GGT	p.D1115G	SIPA1L2_uc001hvf.2_Missense_Mutation_p.D189G	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1115					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCTCGTGCCATCGGGCAGCTT	0.602													C	232581284	T	C	232581284	3	2	98	1	0	0	0	0	1	0	0	0	14330	1435	50	3	1876	3	SIPA1L2	1	232581284	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	2088546	232581284	16669337	172	64502											
KIAA1383	54627	broad.mit.edu	37	chr1	232941435	232941435	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccggcgctcccgccgcCgaaccgtggcccggtgtcat	14	19	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:232941435C>T	uc001hvh.2	+	1	798	c.666C>T	c.(664-666)GCC>GCT	p.A222A		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	hypothetical protein LOC54627	80										ovary(1)	1		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				CTCCCGCCGCCGAACCGTGGC	0.726													T	232941435	C	T	232941435	2	4	98	1	0	0	0	0	0	0	0	1	8228	639	23	1		1	KIAA1383	1	232941435	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	360151	232941435	16309186	173	64503											
LYST	1130	broad.mit.edu	37	chr1	235929422	235929422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtgggattgtgacaaacGtaagtattagtaggagggtg	15	3	0	1	rs80338660		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:235929422G>A	uc001hxj.2	-	21	6253	c.6078C>T	c.(6076-6078)TAC>TAT	p.Y2026Y	LYST_uc009xgb.1_Intron|LYST_uc010pxs.1_RNA	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2026					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGTGACAAACGTAAGTATTAG	0.343									Chediak-Higashi_syndrome				A	235929422	G	A	235929422	2	1	98	1	0	0	0	0	0	0	0	1	9128	1140	40	1		1	LYST	1	235929422	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2987987	235929422	13321199	174	64504											
SDCCAG8	10806	broad.mit.edu	37	chr1	243437869	243437869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattagaacatgaggaaaccAatatgcctactatgcacgac	7	10	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:243437869A>G	uc001hzw.2	+	4	487	c.331A>G	c.(331-333)AAT>GAT	p.N111D	SDCCAG8_uc010pyk.1_Intron|SDCCAG8_uc010pyl.1_Intron	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	111					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding				0	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TGAGGAAACCAATATGCCTAC	0.289													G	243437869	A	G	243437869	3	3	98	1	0	0	0	0	1	0	0	0	13959	130	5	3	345	3	SDCCAG8	1	243437869	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	7508447	243437869	5812752	175	64505											
C1orf100	200159	broad.mit.edu	37	chr1	244538703	244538703	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctcaccaaggaagagacgTtcaaggctattaccctgggc	11	12	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:244538703T>C	uc001iah.2	+	3	199	c.86T>C	c.(85-87)GTT>GCT	p.V29A	C1orf100_uc001iai.2_Missense_Mutation_p.V29A	NM_001012970	NP_001012988	Q5SVJ3	CA100_HUMAN	hypothetical protein LOC200159	29											0	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)			GGAAGAGACGTTCAAGGCTAT	0.458													C	244538703	T	C	244538703	3	2	98	1	0	0	0	0	1	0	0	0	1975	1725	60	3	92	3	C1orf100	1	244538703	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1100834	244538703	4711918	176	64506											
TFB2M	64216	broad.mit.edu	37	chr1	246729200	246729200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttgcgccagggtctcagCcaatctccgatcggttacgt	11	12	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:246729200C>T	uc001ibn.2	-	1	366	c.241G>A	c.(241-243)GCT>ACT	p.A81T	CNST_uc001ibo.3_5'Flank|CNST_uc001ibp.2_5'Flank|TFB2M_uc010pys.1_RNA	NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	81					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			ovary(1)	1	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			AGGGTCTCAGCCAATCTCCGA	0.522													T	246729200	C	T	246729200	3	4	98	1	0	0	0	0	1	0	0	0	15791	739	26	2	981	2	TFB2M	1	246729200	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2190497	246729200	2521421	177	64507											
AHCTF1	25909	broad.mit.edu	37	chr1	247014591	247014591	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaatgtcacattcagcagTgtctttgttatcagctaagt	8	8	4	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:247014591T>C	uc001ibu.1	-	32	4724	c.4717A>G	c.(4717-4719)ACT>GCT	p.T1573A	AHCTF1_uc001ibv.1_Missense_Mutation_p.T1582A|AHCTF1_uc009xgs.1_Missense_Mutation_p.T434A|AHCTF1_uc001ibw.1_RNA	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	1573	Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CATTCAGCAGTGTCTTTGTTA	0.383													C	247014591	T	C	247014591	3	2	98	1	0	0	0	0	1	0	0	0	408	1696	59	3	2099	3	AHCTF1	1	247014591	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	285391	247014591	2236030	178	64508											
AHCTF1	25909	broad.mit.edu	37	chr1	247062817	247062817	+	Splice_Site	DEL	A	A	-													ttaacaaacaagtggcatctAaaaaaaagatttaaaaaata							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:247062816_247062816TA>T	uc001ibv.2	-	11	1557	c.1460_splice	c.e11-1	p.D487_splice	AHCTF1_uc009xgs.1_Splice_Site	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	478	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AAGTGGCATCTAAAAAAAAGA	0.308													-	247062817	A	-	247062817	8	5	98	1	0	1	0	1	0	0	1	0	408	377	13	0		0	AHCTF1	1	247062817	Splice_Site	DEL	A	TCGA-BR-8591-01A-11D-2394-08	48226	247062817	2187804	179	64509											
ZNF124	7678	broad.mit.edu	37	chr1	247320277	247320277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgaaggcaattggagtaaCggaaggctttcccacagtgc	12	8	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:247320277C>T	uc001ick.2	-	4	786	c.647G>A	c.(646-648)CGT>CAT	p.R216H	ZNF124_uc001ici.2_Intron|ZNF124_uc001icj.1_Missense_Mutation_p.R154H	NM_003431	NP_003422	Q15973	ZN124_HUMAN	zinc finger protein 124	216	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			ATTGGAGTAACGGAAGGCTTT	0.453													T	247320277	C	T	247320277	3	4	98	1	0	0	0	0	1	0	0	0	17717	536	19	1	412	1	ZNF124	1	247320277	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	257460	247320277	1930344	180	64510											
ZNF496	84838	broad.mit.edu	37	chr1	247492781	247492782	+	Frame_Shift_Ins	INS	-	-	C													gactcggggctgggaagctcINScccctgggggctagggttct							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:247492780_247492781T>TC	uc009xgv.3	-	0	137_138	c.100_101A>GA	c.(100-102)gagfs	p.E34fs	ZNF496_uc001ico.3_Frame_Shift_Ins_p.E34fs|ZNF496_uc010pyv.1_Frame_Shift_Ins_p.E34fs	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	34					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GCTGGGAAGCTCCCCCTGGGGG	0.688													C	247492782	-	C	247492781	7	5	98	1	0	1	1	0	0	0	0	0	17942	864	30	0	1691	0	ZNF496	1	247492781	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	172504	247492781	1757840	181	64511											
TMEM18	129787	broad.mit.edu	37	chr2	675525	675525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacctagacacagaaagtGcccgatctgtagtctgtagc	9	12	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:675525G>A	uc002qwl.2	-	2	257	c.163C>T	c.(163-165)CAC>TAC	p.H55Y	TMEM18_uc002qwk.2_RNA|uc002qwm.1_5'Flank	NM_152834	NP_690047	Q96B42	TMM18_HUMAN	transmembrane protein 18	55	Helical; (Potential).				cell migration	integral to membrane|nuclear membrane				ovary(1)	1	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		CACAGAAAGTGCCCGATCTGT	0.507													A	675525	G	A	675525	3	1	98	1	0	0	0	0	1	0	0	0	16095	1319	46	2	275	2	TMEM18	2	675525	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08		675525	242523848	182	64512											
PXDN	7837	broad.mit.edu	37	chr2	1652984	1652984	+	Frame_Shift_Del	DEL	G	G	-													gggatcatgacagagaagcaGggggggtcgttgctgcacac							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:1652983_1652983AG>A	uc002qxa.3	-	16	2633	c.2569_2569CT>T	c.(2569-2571)tgcfs	p.C857fs		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	857					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.C857fs*5(2)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACAGAGAAGCAGGGGGGGTCG	0.667													-	1652984	G	-	1652984	7	5	98	1	0	1	0	1	0	0	0	0	12847	987	35	0	1899	0	PXDN	2	1652984	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	977459	1652984	241546389	183	64513											
SOX11	6664	broad.mit.edu	37	chr2	5833531	5833531	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttctggatgaggacgaCgacgacgacgacgacgacga	15	9	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:5833531C>T	uc002qyj.2	+	1	733	c.678C>T	c.(676-678)GAC>GAT	p.D226D		NM_003108	NP_003099	P35716	SOX11_HUMAN	SRY-box 11	226	Poly-Asp.				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		ATGAGgacgacgacgacgacg	0.602													T	5833531	C	T	5833531	2	4	98	1	0	0	0	0	0	0	0	1	14942	535	19	1		1	SOX11	2	5833531	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	4180547	5833531	237365842	184	64514											
ROCK2	9475	broad.mit.edu	37	chr2	11351805	11351805	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accctctttaaaaaatgcatAcctttcatggcttctgattt	4	10	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:11351805A>G	uc002rbd.1	-	18	2652	c.2203_splice	c.e18+1	p.E735_splice		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein						axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AAAAATGCATACCTTTCATGG	0.353													G	11351805	A	G	11351805	5	3	98	1	0	0	0	0	0	0	1	0	13518	405	14	3	2025	3	ROCK2	2	11351805	Splice_Site	SNP	A	TCGA-BR-8591-01A-11D-2394-08	5518274	11351805	231847568	185	64515											
TRIB2	28951	broad.mit.edu	37	chr2	12863670	12863670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaaattcatctttaaggaCgaagagaggtaggtctcatc	11	7	3	1	rs144779580	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:12863670C>T	uc002rbv.3	+	2	1991	c.555C>T	c.(553-555)GAC>GAT	p.D185D	TRIB2_uc010yjp.1_Silent_p.D49D	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	tribbles homolog 2	185	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			stomach(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTTTAAGGACGAAGAGAGGT	0.537													T	12863670	C	T	12863670	2	4	98	1	0	0	0	0	0	0	0	1	16480	535	19	1		1	TRIB2	2	12863670	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1511865	12863670	230335703	186	64516											
ITSN2	50618	broad.mit.edu	37	chr2	24509160	24509160	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcatctaactgttctttaAgtctttggcataattcttcc	6	9	4	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:24509160A>C	uc002rfe.2	-	16	2042	c.1784T>G	c.(1783-1785)CTT>CGT	p.L595R	ITSN2_uc002rff.2_Missense_Mutation_p.L595R|ITSN2_uc002rfg.2_Missense_Mutation_p.L595R|ITSN2_uc010eyd.2_Missense_Mutation_p.L620R	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	595	Potential.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTTCTTTAAGTCTTTGGCA	0.299													C	24509160	A	C	24509160	3	2	98	1	0	0	0	0	1	0	0	0	7927	72	3	5	3460	5	ITSN2	2	24509160	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	11645490	24509160	218690213	187	64517											
NCOA1	8648	broad.mit.edu	37	chr2	24927990	24927990	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctccagcccctcctatAgattcatattgaatgatggg	8	12	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:24927990A>G	uc002rfk.2	+	10	1243	c.985A>G	c.(985-987)AGA>GGA	p.R329G	NCOA1_uc010eye.2_Missense_Mutation_p.R329G|NCOA1_uc002rfi.2_Missense_Mutation_p.R178G|NCOA1_uc002rfj.2_Missense_Mutation_p.R329G|NCOA1_uc002rfl.2_Missense_Mutation_p.R329G	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	329									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCTCCTATAGATTCATATT	0.433			T	PAX3	alveolar rhadomyosarcoma								G	24927990	A	G	24927990	3	3	98	1	0	0	0	0	1	0	0	0	10228	412	15	3	1015	3	NCOA1	2	24927990	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	418830	24927990	218271383	188	64518											
SNX17	9784	broad.mit.edu	37	chr2	27598992	27598992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctatcatgatgagcatctGcttgcagtccatggttgatg	12	8	2	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:27598992G>A	uc002rkg.1	+	12	1346	c.1124G>A	c.(1123-1125)TGC>TAC	p.C375Y	SNX17_uc010ylj.1_Missense_Mutation_p.C355Y|SNX17_uc010ylk.1_Missense_Mutation_p.C161Y|SNX17_uc010eza.1_Missense_Mutation_p.C161Y|SNX17_uc002rki.1_RNA|SNX17_uc002rkh.1_Missense_Mutation_p.C161Y|SNX17_uc010yll.1_Missense_Mutation_p.C161Y|SNX17_uc010ylm.1_Missense_Mutation_p.C161Y|SNX17_uc010yln.1_Missense_Mutation_p.C363Y|SNX17_uc010ylo.1_Missense_Mutation_p.C293Y|SNX17_uc010ylp.1_Missense_Mutation_p.C350Y|SNX17_uc010ylq.1_Missense_Mutation_p.C161Y	NM_014748	NP_055563	Q15036	SNX17_HUMAN	sorting nexin 17	375					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGAGCATCTGCTTGCAGTCC	0.517													A	27598992	G	A	27598992	3	1	98	1	0	0	0	0	1	0	0	0	14888	1319	46	2	1170	2	SNX17	2	27598992	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2671002	27598992	215600381	189	64519											
ZNF513	130557	broad.mit.edu	37	chr2	27600656	27600656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtgccgcagcatgtgaCgtttgaggttcatgctctgg	14	9	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:27600656C>T	uc002rkk.2	-	4	1582	c.1382G>A	c.(1381-1383)CGT>CAT	p.R461H	ZNF513_uc002rkj.2_Missense_Mutation_p.R399H	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	461	C2H2-type 7.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCATGTGACGTTTGAGGTT	0.572													T	27600656	C	T	27600656	3	4	98	1	0	0	0	0	1	0	0	0	17955	536	19	1	247	1	ZNF513	2	27600656	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1664	27600656	215598717	190	64520											
SLC4A1AP	22950	broad.mit.edu	37	chr2	27898476	27898476	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgacacatttcttgataggActggcctgattgagaagaag	11	6	1	5			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:27898476A>G	uc002rlk.3	+	6	1705	c.1423A>G	c.(1423-1425)ACT>GCT	p.T475A		NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger),	475						cytoplasm|nucleus	double-stranded RNA binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)					TCTTGATAGGACTGGCCTGAT	0.393													G	27898476	A	G	27898476	3	3	98	1	0	0	0	0	1	0	0	0	14653	275	10	3	1445	3	SLC4A1AP	2	27898476	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	297820	27898476	215300897	191	64521											
LCLAT1	253558	broad.mit.edu	37	chr2	30748598	30748598	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatcaacaaccgccttgtgGcaacatggctcaccctacct	8	15	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:30748598G>T	uc002rnj.2	+	3	465	c.256G>T	c.(256-258)GCA>TCA	p.A86S	LCLAT1_uc010ymp.1_Intron|LCLAT1_uc002rnk.1_Missense_Mutation_p.A86S|LCLAT1_uc002rnl.2_Missense_Mutation_p.A48S|LCLAT1_uc010ymq.1_Missense_Mutation_p.A48S	NM_182551	NP_872357	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1 isoform 1	86	Helical; (Potential).				multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			ovary(2)	2						CCGCCTTGTGGCAACATGGCT	0.408													T	30748598	G	T	30748598	3	4	98	1	0	0	0	0	1	0	0	0	8677	1203	42	5	262	5	LCLAT1	2	30748598	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2850122	30748598	212450775	192	64522											
HEATR5B	54497	broad.mit.edu	37	chr2	37287865	37287865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgggcagatggtaacgaaCgacagatggtcctagccaag	13	9	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:37287865C>T	uc002rpp.1	-	12	1804	c.1708G>A	c.(1708-1710)GTT>ATT	p.V570I		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	570							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				TGGTAACGAACGACAGATGGT	0.408													T	37287865	C	T	37287865	3	4	98	1	0	0	0	0	1	0	0	0	7032	536	19	1	4607	1	HEATR5B	2	37287865	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	6539267	37287865	205911508	193	64523											
SLC3A1	6519	broad.mit.edu	37	chr2	44539759	44539759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttcacggctgacttcgcGtttggggaatcagtatgtca	12	9	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:44539759G>A	uc002ruc.3	+	8	1445	c.1367G>A	c.(1366-1368)CGT>CAT	p.R456H	SLC3A1_uc002rtz.2_Missense_Mutation_p.R456H|SLC3A1_uc002rua.2_Missense_Mutation_p.R456H|SLC3A1_uc002rub.2_Missense_Mutation_p.R456H|SLC3A1_uc002rud.3_Missense_Mutation_p.R178H|SLC3A1_uc002rue.3_Missense_Mutation_p.R76H	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	456	Extracellular (Potential).				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CTGACTTCGCGTTTGGGGAAT	0.398													A	44539759	G	A	44539759	3	1	98	1	0	0	0	0	1	0	0	0	14626	1145	40	1	1397	1	SLC3A1	2	44539759	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	7251894	44539759	198659614	194	64524											
MSH6	2956	broad.mit.edu	37	chr2	48026311	48026311	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttgatgcatctacactcTatgtgcctgaggatttcctc	7	10	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:48026311T>C	uc002rwd.3	+	4	1341	c.1189T>C	c.(1189-1191)TAT>CAT	p.Y397H	MSH6_uc002rwc.2_Missense_Mutation_p.Y397H|MSH6_uc010fbj.2_Missense_Mutation_p.Y95H|MSH6_uc010yoi.1_Missense_Mutation_p.Y267H|MSH6_uc010yoj.1_Missense_Mutation_p.Y95H	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	397					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.Y397C(1)		large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATCTACACTCTATGTGCCTGA	0.443			Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				C	48026311	T	C	48026311	3	2	98	1	0	0	0	0	1	0	0	0	9874	1522	53	3	1203	3	MSH6	2	48026311	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	3486552	48026311	195173062	195	64525											
FOXN2	3344	broad.mit.edu	37	chr2	48602513	48602513	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctgctccaccttgctggAattcgtacatgtttaggttc	8	11	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:48602513A>G	uc002rwh.1	+	7	1542	c.1227A>G	c.(1225-1227)GGA>GGG	p.G409G		NM_002158	NP_002149	P32314	FOXN2_HUMAN	T-cell leukemia virus enhancer factor	409					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			ACCTTGCTGGAATTCGTACAT	0.403													G	48602513	A	G	48602513	2	3	98	1	0	0	0	0	0	0	0	1	6020	233	9	3		3	FOXN2	2	48602513	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	576202	48602513	194596860	196	64526											
TSPYL6	388951	broad.mit.edu	37	chr2	54483007	54483007	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcttctaggccctccgcGggtggtggagtcacttcctg	14	14	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:54483007G>A	uc002rxr.2	-	1	403	c.282C>T	c.(280-282)CCC>CCT	p.P94P	ACYP2_uc002rxq.3_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	TSPY-like 6	94					nucleosome assembly	nucleus					0						GGCCCTCCGCGGGTGGTGGAG	0.617													A	54483007	G	A	54483007	2	1	98	1	0	0	0	0	0	0	0	1	16660	1103	39	1		1	TSPYL6	2	54483007	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	5880494	54483007	188716366	197	64527											
PUS10	150962	broad.mit.edu	37	chr2	61175320	61175320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttctggtcgatttttaagtCctaggggagaatatgacaca	10	6	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:61175320C>T	uc010fci.2	-	16	1369	c.1309G>A	c.(1309-1311)GAC>AAC	p.D437N	PUS10_uc002sao.2_Missense_Mutation_p.D437N|PUS10_uc010ypk.1_Missense_Mutation_p.D214N	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	437					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			ovary(2)|large_intestine(1)|kidney(1)	4			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			ATTTTTAAGTCCTAGGGGAGA	0.532													T	61175320	C	T	61175320	3	4	98	1	0	0	0	0	1	0	0	0	12831	869	30	4	292	4	PUS10	2	61175320	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	6692313	61175320	182024053	198	64528											
USP34	9736	broad.mit.edu	37	chr2	61571087	61571087	+	Frame_Shift_Del	DEL	T	T	-													caccatcaaaatcagccataTttttttctgattttgcacta							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:61571086_61571086AT>A	uc002sbe.3	-	15	2386	c.2364_2364AT>T	c.(2362-2364)aatfs	p.N788fs		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	788					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AATCAGCCATATTTTTTTCTG	0.403													-	61571087	T	-	61571087	7	5	98	1	0	1	0	1	0	0	0	0	17062	1493	52	0	8537	0	USP34	2	61571087	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	395767	61571087	181628286	199	64529											
UGP2	7360	broad.mit.edu	37	chr2	64113007	64113007	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggaagtcacaaataaaacacGtgcagatgtaaaggtaaata	9	5	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:64113007G>C	uc002scm.2	+	6	1166	c.860G>C	c.(859-861)CGT>CCT	p.R287P	UGP2_uc002scl.2_Missense_Mutation_p.R276P|UGP2_uc010ypx.1_Missense_Mutation_p.R296P	NM_006759	NP_006750	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2 isoform a	287					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity				0						AATAAAACACGTGCAGATGTA	0.363													C	64113007	G	C	64113007	3	2	98	1	0	0	0	0	1	0	0	0	16940	1145	40	5	882	5	UGP2	2	64113007	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2541920	64113007	179086366	200	64530											
ADD2	119	broad.mit.edu	37	chr2	70923378	70923378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagggcgttctgctcaccGtgacataggtgtcactcagc	11	13	4	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:70923378G>A	uc002sgz.2	-	5	938	c.473C>T	c.(472-474)ACG>ATG	p.T158M	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.T158M|ADD2_uc002sha.2_Missense_Mutation_p.T158M|ADD2_uc002sgx.2_Missense_Mutation_p.T158M|ADD2_uc010fdt.1_Missense_Mutation_p.T158M|ADD2_uc002shc.1_Missense_Mutation_p.T158M|ADD2_uc002shd.1_Missense_Mutation_p.T158M|ADD2_uc010fdu.1_Missense_Mutation_p.T174M	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	158					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						TCTGCTCACCGTGACATAGGT	0.597													A	70923378	G	A	70923378	3	1	98	1	0	0	0	0	1	0	0	0	305	1159	40	1	1936	1	ADD2	2	70923378	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	6810371	70923378	172275995	201	64531											
TEX261	113419	broad.mit.edu	37	chr2	71219073	71219073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcatgctggtggggaagCgctcaaagacgtagaggcca	14	9	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:71219073C>T	uc002shn.2	-	3	305	c.191G>A	c.(190-192)CGC>CAC	p.R64H	TEX261_uc010fdy.2_Missense_Mutation_p.R17H	NM_144582	NP_653183	Q6UWH6	TX261_HUMAN	testis expressed sequence 261	64						integral to membrane					0						GGTGGGGAAGCGCTCAAAGAC	0.552													T	71219073	C	T	71219073	3	4	98	1	0	0	0	0	1	0	0	0	15779	768	27	1	415	1	TEX261	2	71219073	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	295695	71219073	171980300	202	64532											
TET3	200424	broad.mit.edu	37	chr2	74273650	74273650	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgcccacgatctggtggcCttttcggctgtggccgaagc	14	12	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:74273650C>A	uc002skb.3	+	1	201	c.201C>A	c.(199-201)GCC>GCA	p.A67A	TET3_uc010fez.1_Silent_p.A67A	NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	67							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						ATCTGGTGGCCTTTTCGGCTG	0.607													A	74273650	C	A	74273650	2	1	98	1	0	0	0	0	0	0	0	1	15768	668	24	5		5	TET3	2	74273650	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3054577	74273650	168925723	203	64533											
TET3	200424	broad.mit.edu	37	chr2	74274036	74274037	+	Frame_Shift_Del	DEL	TC	TC	-													cagctcagaggtgccccagaTctctccccaagagggcctgc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:74274036_74274037delTC	uc002skb.3	+	1	587_588	c.587_588delTC	c.(586-588)ATCfs	p.I196fs	TET3_uc010fez.1_Frame_Shift_Del_p.I196fs	NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	196							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GTGCCCCAGATCTCTCCCCAAG	0.649													-	74274037	TC	-	74274036	7	5	98	1	0	1	0	1	0	0	0	0	15768	1435	50	0	589	0	TET3	2	74274036	Frame_Shift_Del	DEL	TC	TCGA-BR-8591-01A-11D-2394-08	386	74274036	168925337	204	64534											
CCDC142	84865	broad.mit.edu	37	chr2	74701702	74701703	+	Frame_Shift_Ins	INS	-	-	A													ggactggttcccaggcaggaINSaaaaaacggcaggtgccaac							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:74701701_74701702G>GA	uc002slr.3	-	8	2617_2618	c.2224_2225C>TC	c.(2224-2226)tccfs	p.S742fs	MRPL53_uc002sln.3_5'Flank|CCDC142_uc002slo.3_Intron|CCDC142_uc002slq.3_Frame_Shift_Ins_p.S735fs|CCDC142_uc002slp.2_3'UTR	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	Homo sapiens coiled-coil domain containing 142 (CCDC142), mRNA.	742										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						TCCCAGGCAGGAAAAAAACGGC	0.569													A	74701703	-	A	74701702	7	5	98	1	0	1	1	0	0	0	0	0	2776	246	9	0	32	0	CCDC142	2	74701702	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	427666	74701702	168497671	205	64535											
CCDC142	84865	broad.mit.edu	37	chr2	74702447	74702447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcctgggcttgaggtggCaacccttgcaatccttgcaa	14	11	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:74702447C>T	uc002slr.2	-	7	2094	c.1701G>A	c.(1699-1701)TTG>TTA	p.L567L	MRPL53_uc002sln.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Silent_p.L560L|CCDC142_uc002slp.2_Silent_p.L567L	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	567										central_nervous_system(1)	1						CTTGAGGTGGCAACCCTTGCA	0.572													T	74702447	C	T	74702447	2	4	98	1	0	0	0	0	0	0	0	1	2776	709	25	2		2	CCDC142	2	74702447	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	745	74702447	168496926	206	64536											
PCGF1	84759	broad.mit.edu	37	chr2	74732900	74732900	+	Splice_Site	DEL	G	G	-													ttcttgtctttgccagaactGgggggaaatagacacaggtt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:74732899_74732899TG>T	uc002slz.3	-	6	557	c.531_splice	c.e6-1	p.S177_splice	LBX2_uc002slw.3_5'Flank|PCGF1_uc002sly.3_Splice_Site_p.S94_splice	NM_032673	NP_116062	Q9BSM1	PCGF1_HUMAN	Homo sapiens polycomb group ring finger 1 (PCGF1), mRNA.	177					histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TTGCCAGAACTGGGGGGAAAT	0.527													-	74732900	G	-	74732900	8	5	98	1	0	1	0	1	0	0	1	0	11574	1363	47	0		0	PCGF1	2	74732900	Splice_Site	DEL	G	TCGA-BR-8591-01A-11D-2394-08	30453	74732900	168466473	207	64537											
LRRTM4	80059	broad.mit.edu	37	chr2	77745529	77745529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtctcagagtttgtaggcTtgtagtccacataatactcc	9	9	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:77745529T>C	uc002snr.2	-	3	1881	c.1466A>G	c.(1465-1467)AAG>AGG	p.K489R	LRRTM4_uc002snq.2_Missense_Mutation_p.K489R|LRRTM4_uc002sns.2_Missense_Mutation_p.K489R|LRRTM4_uc002snt.2_Missense_Mutation_p.K490R	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	489	Cytoplasmic (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		GTTTGTAGGCTTGTAGTCCAC	0.463													C	77745529	T	C	77745529	3	2	98	1	0	0	0	0	1	0	0	0	9042	1609	56	3	320	3	LRRTM4	2	77745529	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	3012629	77745529	165453844	208	64538											
CTNNA2	1496	broad.mit.edu	37	chr2	80646606	80646606	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatggatcacatatctgaCtctttcctggaaaccaatgt	8	9	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:80646606C>T	uc010ysh.1	+	8	1175	c.1170C>T	c.(1168-1170)GAC>GAT	p.D390D	CTNNA2_uc010yse.1_Silent_p.D390D|CTNNA2_uc010ysf.1_Silent_p.D390D|CTNNA2_uc010ysg.1_Silent_p.D390D|CTNNA2_uc010ysi.1_Silent_p.D22D	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	390					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						ACATATCTGACTCTTTCCTGG	0.368													T	80646606	C	T	80646606	2	4	98	1	0	0	0	0	0	0	0	1	4013	564	20	4		4	CTNNA2	2	80646606	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2901077	80646606	162552767	209	64539											
ELMOD3	84173	broad.mit.edu	37	chr2	85617385	85617385	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagactcgggctttgtcctcAaaggtgtgctctttcttctg	10	11	4	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:85617385A>G	uc002spf.3	+	14	1605	c.940A>G	c.(940-942)AAA>GAA	p.K314E	ELMOD3_uc002spg.3_Missense_Mutation_p.K314E|ELMOD3_uc002sph.3_Missense_Mutation_p.K314E|ELMOD3_uc010ysn.1_Missense_Mutation_p.K314E|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA	NM_001135021	NP_001128493	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3 isoform b	314	ELMO.				phagocytosis	cytoskeleton				ovary(2)	2						CTTTGTCCTCAAAGGTGTGCT	0.562													G	85617385	A	G	85617385	3	3	98	1	0	0	0	0	1	0	0	0	5070	131	5	3	978	3	ELMOD3	2	85617385	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	4970779	85617385	157581988	210	64540											
ST3GAL5	8869	broad.mit.edu	37	chr2	86073608	86073608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggtcagacagtggtgcGccctctggataagtcatcct	11	11	4	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:86073608G>A	uc002sqq.1	-	5	870	c.741C>T	c.(739-741)GGC>GGT	p.G247G	ST3GAL5_uc010fgq.1_Silent_p.G119G|ST3GAL5_uc002sqp.1_Silent_p.G224G	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	247	Lumenal (Potential).				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity				0						ACAGTGGTGCGCCCTCTGGAT	0.348													A	86073608	G	A	86073608	2	1	98	1	0	0	0	0	0	0	0	1	15217	1074	38	1		1	ST3GAL5	2	86073608	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	456223	86073608	157125765	211	64541											
ADRA2B	151	broad.mit.edu	37	chr2	96781615	96781615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgaggtgcagaagagcacgtCgagcgccaggtacacctcgc	14	13	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:96781615C>T	uc002svi.2	-	1	274	c.274G>A	c.(274-276)GAC>AAC	p.D92N		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	92	Helical; Name=3; (By similarity).	Implicated in ligand binding (By similarity).			activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	AAGAGCACGTCGAGCGCCAGG	0.647													T	96781615	C	T	96781615	3	4	98	1	0	0	0	0	1	0	0	0	338	884	31	1	1073	1	ADRA2B	2	96781615	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	10708007	96781615	146417758	212	64542											
C2orf55	343990	broad.mit.edu	37	chr2	99439540	99439540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcggtgggaaacgggctcGcgacgtcttcgggagcacag	18	10	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:99439540G>A	uc002szf.1	-	7	1490	c.1196C>T	c.(1195-1197)GCG>GTG	p.A399V		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	399	Pro-rich.										0						AAACGGGCTCGCGACGTCTTC	0.731													A	99439540	G	A	99439540	3	1	98	1	0	0	0	0	1	0	0	0	2176	1087	38	1	1708	1	C2orf55	2	99439540	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2657925	99439540	143759833	213	64543											
C2orf55	343990	broad.mit.edu	37	chr2	99448877	99448877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggggctcctgggcagcccGtcgtcctcagagctcatgcc	15	15	2	1	rs34718472	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:99448877G>A	uc002szf.1	-	5	768	c.474C>T	c.(472-474)GAC>GAT	p.D158D		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	158											0						TGGGCAGCCCGTCGTCCTCAG	0.587													A	99448877	G	A	99448877	2	1	98	1	0	0	0	0	0	0	0	1	2176	1136	40	1		1	C2orf55	2	99448877	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	9337	99448877	143750496	214	64544											
LIPT1	51601	broad.mit.edu	37	chr2	99778504	99778504	+	Frame_Shift_Del	DEL	A	A	-													gctggctttaaaaaaacagtAaaaaatgggctcattttaca							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:99778503_99778503TA>T	uc002szp.4	+	2	244	c.206_206TA>T	c.(205-207)gtafs	p.V69fs	MRPL30_uc002szl.1_Intron|LIPT1_uc002szm.4_Frame_Shift_Del_p.V28fs|LIPT1_uc002szn.4_Frame_Shift_Del_p.V28fs|LIPT1_uc002szo.4_Frame_Shift_Del_p.V28fs|LIPT1_uc002szq.4_Frame_Shift_Del_p.V28fs|MRPL30_uc002szr.3_Intron|LIPT1_uc021vln.1_Frame_Shift_Del_p.V28fs|LIPT1_uc021vlo.1_Frame_Shift_Del_p.V28fs|LIPT1_uc021vlp.1_Frame_Shift_Del_p.V28fs	NM_145199	NP_660200	Q9Y234	LIPT_HUMAN	Homo sapiens lipoyltransferase 1 (LIPT1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	28					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	AAAAAAACAGTAAAAAATGGG	0.383													-	99778504	A	-	99778504	7	5	98	1	0	1	0	1	0	0	0	0	8829	349	13	0	86	0	LIPT1	2	99778504	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	329627	99778504	143420869	215	64545											
LYG2	254773	broad.mit.edu	37	chr2	99860495	99860495	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcaacactccacgtggggaAttttttctggattgccttaa	9	9	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:99860495A>T	uc002szw.1	-	5	600	c.487T>A	c.(487-489)TTC>ATC	p.F163I	MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Missense_Mutation_p.F163I|LYG2_uc002szx.1_Missense_Mutation_p.F163I	NM_175735	NP_783862	Q86SG7	LYG2_HUMAN	lysozyme G-like 2 precursor	163					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			ovary(1)	1						CACGTGGGGAATTTTTTCTGG	0.463													T	99860495	A	T	99860495	3	4	98	1	0	0	0	0	1	0	0	0	9105	101	4	5	159	5	LYG2	2	99860495	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	81991	99860495	143338878	216	64546											
AFF3	3899	broad.mit.edu	37	chr2	100289047	100289047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcttaaggtcatcttccaGcattctgaaagaaggaacaa	8	8	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:100289047G>A	uc002tag.2	-	11	1332	c.1096C>T	c.(1096-1098)CTG>TTG	p.L366L	AFF3_uc002taf.2_Silent_p.L391L|AFF3_uc010fiq.1_Silent_p.L366L|AFF3_uc010yvr.1_Silent_p.L520L|AFF3_uc002tah.1_Silent_p.L391L	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	366					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						TCATCTTCCAGCATTCTGAAA	0.373													A	100289047	G	A	100289047	2	1	98	1	0	0	0	0	0	0	0	1	358	962	34	2		2	AFF3	2	100289047	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	428552	100289047	142910326	217	64547											
POU3F3	5455	broad.mit.edu	37	chr2	105473462	105473462	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccacgggctgcagacgagCgttcagtgaagccagggcgc	15	13	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:105473462C>T	uc010ywg.1	+	1	1494	c.1494C>T	c.(1492-1494)AGC>AGT	p.S498S		NM_006236	NP_006227	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	498					metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			ovary(1)	1						TGCAGACGAGCGTTCAGTGAA	0.468													T	105473462	C	T	105473462	2	4	98	1	0	0	0	0	0	0	0	1	12276	767	27	1		1	POU3F3	2	105473462	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	5184415	105473462	137725911	218	64548											
SULT1C2	6819	broad.mit.edu	37	chr2	108921046	108921046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagttcctttatgtagctcGaaatgccaaagactgtatgg	9	7	0	1	rs139416622	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:108921046G>A	uc002tdy.2	+	5	845	c.392G>A	c.(391-393)CGA>CAA	p.R131Q	SULT1C2_uc010ywp.1_Missense_Mutation_p.R46Q|SULT1C2_uc002tdx.2_Missense_Mutation_p.R142Q|SULT1C2_uc010ywq.1_Missense_Mutation_p.R145Q	NM_001056	NP_001047	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 1	131	PAPS (By similarity).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			ovary(1)	1						TATGTAGCTCGAAATGCCAAA	0.438													A	108921046	G	A	108921046	3	1	98	1	0	0	0	0	1	0	0	0	15374	1058	37	1	505	1	SULT1C2	2	108921046	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3447584	108921046	134278327	219	64549											
CCDC138	165055	broad.mit.edu	37	chr2	109411014	109411014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgccttgccaactaataCgacctcatcgagacctcgga	8	13	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:109411014C>T	uc002ten.1	+	5	473	c.413C>T	c.(412-414)ACG>ATG	p.T138M	CCDC138_uc002teo.1_Missense_Mutation_p.T138M|CCDC138_uc002tep.1_Translation_Start_Site|CCDC138_uc010fjm.1_Translation_Start_Site	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	138											0						CCAACTAATACGACCTCATCG	0.388													T	109411014	C	T	109411014	3	4	98	1	0	0	0	0	1	0	0	0	2772	536	19	1	431	1	CCDC138	2	109411014	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	489968	109411014	133788359	220	64550											
CCDC138	165055	broad.mit.edu	37	chr2	109463340	109463340	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaagagctccaatttgccAttgagatttttatcaacctt	5	8	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:109463340A>G	uc002ten.1	+	12	1530	c.1470A>G	c.(1468-1470)CCA>CCG	p.P490P	CCDC138_uc002teo.1_Silent_p.P490P|CCDC138_uc002tep.1_Silent_p.P174P|CCDC138_uc010fjm.1_Silent_p.P174P	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	490											0						CCAATTTGCCATTGAGATTTT	0.333													G	109463340	A	G	109463340	2	3	98	1	0	0	0	0	0	0	0	1	2772	204	8	3		3	CCDC138	2	109463340	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	52326	109463340	133736033	221	64551											
NPHP1	4867	broad.mit.edu	37	chr2	110927445	110927445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagcgatgtattcttcacCggttgaccatttgtgagatt	9	8	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:110927445C>T	uc002tfn.3	-	5	554	c.460G>A	c.(460-462)GGT>AGT	p.G154S	NPHP1_uc002tfm.3_Missense_Mutation_p.G154S|NPHP1_uc002tfl.3_Missense_Mutation_p.G154S|NPHP1_uc002tfo.3_Missense_Mutation_p.G92S|NPHP1_uc010ywx.1_Missense_Mutation_p.G154S|NPHP1_uc010fjv.1_Missense_Mutation_p.G154S	NM_207181	NP_997064	O15259	NPHP1_HUMAN	nephrocystin 1 isoform 2	154	SH3.				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			ovary(2)	2						TATTCTTCACCGGTTGACCAT	0.244													T	110927445	C	T	110927445	3	4	98	1	0	0	0	0	1	0	0	0	10579	652	23	1	1805	1	NPHP1	2	110927445	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1464105	110927445	132271928	222	64552											
ANAPC1	64682	broad.mit.edu	37	chr2	112614258	112614259	+	Splice_Site	INS	-	-	T													cagcatggtgtctattttctINSaaaaaaacaaaaaagacaaa					rs4067742		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:112614257_112614258C>CT	uc002thi.3	-	13	1697	c.1450_splice	c.e13-1	p.K484_splice		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	484					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGTCTATTTTCTAAAAAAACAA	0.361													T	112614259	-	T	112614258	8	5	98	1	0	1	1	0	0	0	1	0	598	1536	53	0	4530	0	ANAPC1	2	112614258	Splice_Site	INS	-	TCGA-BR-8591-01A-11D-2394-08	1686813	112614258	130585115	223	64553											
POLR1B	84172	broad.mit.edu	37	chr2	113315657	113315657	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaatctgcgttctaaaacAggtaaaattaaatcgatcgt	9	6	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:113315657A>G	uc002thw.2	+	8	1909	c.1329A>G	c.(1327-1329)ACA>ACG	p.T443T	POLR1B_uc010fkn.2_Silent_p.T387T|POLR1B_uc002thx.2_Silent_p.T304T|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Silent_p.T481T|POLR1B_uc002thy.2_Silent_p.T304T|POLR1B_uc010yxo.1_Silent_p.T220T	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	443					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1						GTTCTAAAACAGGTAAAATTA	0.353													G	113315657	A	G	113315657	2	3	98	1	0	0	0	0	0	0	0	1	12210	202	7	3		3	POLR1B	2	113315657	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	701399	113315657	129883716	224	64554											
PSD4	23550	broad.mit.edu	37	chr2	113942980	113942980	+	Frame_Shift_Del	DEL	T	T	-													ggctggcagagaggaggtccTttttggccccaggtgactct							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:113942979_113942979CT>C	uc002tjc.3	+	3	1394	c.1211_1211CT>C	c.(1210-1212)cctfs	p.P404fs	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Frame_Shift_Del_p.P403fs|PSD4_uc002tjf.3_5'UTR	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	404					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAGGAGGTCCTTTTTGGCCC	0.562													-	113942980	T	-	113942980	7	5	98	1	0	1	0	1	0	0	0	0	12649	1596	56	0	1222	0	PSD4	2	113942980	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	627323	113942980	129256393	225	64555											
FOXD4L1	200350	broad.mit.edu	37	chr2	114256886	114256886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaccgcagcgcagcctccGggactccgatggggaagacg	14	15	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:114256886G>A	uc002tjw.3	+	1	226	c.53G>A	c.(52-54)CGG>CAG	p.R18Q		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	18					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						CGCAGCCTCCGGGACTCCGAT	0.498													A	114256886	G	A	114256886	3	1	98	1	0	0	0	0	1	0	0	0	6000	1116	39	1	55	1	FOXD4L1	2	114256886	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	313906	114256886	128942487	226	64556											
EPB41L5	57669	broad.mit.edu	37	chr2	120844814	120844814	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggttgtagaagatgatgatCaggtaggaataaaattatat	11	1	1	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:120844814C>T	uc002tmg.2	+	11	997	c.871C>T	c.(871-873)CAG>TAG	p.Q291*	EPB41L5_uc010flk.2_Nonsense_Mutation_p.Q291*|EPB41L5_uc010fll.2_Nonsense_Mutation_p.Q291*|EPB41L5_uc002tmh.3_Nonsense_Mutation_p.Q291*|EPB41L5_uc010flm.2_Nonsense_Mutation_p.Q95*	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	291	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1						AGATGATGATCAGGTAGGAAT	0.294													T	120844814	C	T	120844814	4	4	98	1	0	0	0	0	0	1	0	0	5157	827	29	4	909	4	EPB41L5	2	120844814	Nonsense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	6587928	120844814	122354559	227	64557											
WDR33	55339	broad.mit.edu	37	chr2	128477600	128477600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatgcatgtcctgaggccGtggcaacccctggggcgggc	15	15	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:128477600G>A	uc002tpg.1	-	16	2182	c.1999C>T	c.(1999-2001)CGG>TGG	p.R667W		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	667	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCTGAGGCCGTGGCAACCCC	0.637													A	128477600	G	A	128477600	3	1	98	1	0	0	0	0	1	0	0	0	17284	1144	40	1	2039	1	WDR33	2	128477600	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	7632786	128477600	114721773	228	64558											
HS6ST1	9394	broad.mit.edu	37	chr2	129025780	129025780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtagtcctcggtgggcaCgcggcccggctcgtcggcat	15	14	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:129025780C>T	uc002tpt.3	-	2	1226	c.1192G>A	c.(1192-1194)GTG>ATG	p.V398M		NM_004807	NP_004798	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	398	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			pancreas(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		TCGGTGGGCACGCGGCCCGGC	0.682													T	129025780	C	T	129025780	3	4	98	1	0	0	0	0	1	0	0	0	7370	536	19	1	47	1	HS6ST1	2	129025780	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	548180	129025780	114173593	229	64559											
POTEE	445582	broad.mit.edu	37	chr2	132021259	132021260	+	Frame_Shift_Ins	INS	-	-	G													cccaggcagcagggcatgatINSggggggcatgcatcagaaag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:132021259_132021260insG	uc002tsn.2	+	15	2283_2284	c.2231_2232insG	c.(2230-2232)ATGfs	p.M744fs	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Frame_Shift_Ins_p.M344fs|POTEE_uc002tsl.2_Frame_Shift_Ins_p.M326fs|POTEE_uc010fmy.1_Frame_Shift_Ins_p.M208fs	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	744	Actin-like.						ATP binding				0						CAGGGCATGATGGGGGGCATGC	0.629													G	132021260	-	G	132021259	7	5	98	1	0	1	1	0	0	0	0	0	12264	1464	51	0	2289	0	POTEE	2	132021259	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	2995479	132021259	111178114	230	64560											
ZRANB3	84083	broad.mit.edu	37	chr2	136033260	136033260	+	Frame_Shift_Del	DEL	A	A	-													agcatgcttaaatggtgagcAaaaaccagaaatttaagcga							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:136033260delA	uc002tum.2	-	9	1149	c.1032delT	c.(1030-1032)TTTfs	p.F344fs	ZRANB3_uc002tuk.2_5'UTR|ZRANB3_uc002tul.2_Frame_Shift_Del_p.F344fs|ZRANB3_uc002tun.1_Frame_Shift_Del_p.F284fs	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	344	Helicase C-terminal.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)		AATGGTGAGCAAAAACCAGAA	0.318													-	136033260	A	-	136033260	7	5	98	1	0	1	0	1	0	0	0	0	18221	127	5	0	2259	0	ZRANB3	2	136033260	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	4012001	136033260	107166113	231	64561											
LRP1B	53353	broad.mit.edu	37	chr2	141143557	141143557	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttacactggaattcaTgaggtccacaagtcttttta	7	7	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:141143557T>C	uc002tvj.1	-	67	11408	c.10436A>G	c.(10435-10437)CAT>CGT	p.H3479R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3479	Extracellular (Potential).|LDL-receptor class A 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGGAATTCATGAGGTCCACA	0.408										TSP Lung(27;0.18)			C	141143557	T	C	141143557	3	2	98	1	0	0	0	0	1	0	0	0	8955	1464	51	3	3463	3	LRP1B	2	141143557	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	5110297	141143557	102055816	232	64562											
LRP1B	53353	broad.mit.edu	37	chr2	141641551	141641551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcaggccttctggagtaGccaggccatgctccacaacc	10	15	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:141641551G>A	uc002tvj.1	-	25	4976	c.4004C>T	c.(4003-4005)GCT>GTT	p.A1335V	LRP1B_uc010fnl.1_Missense_Mutation_p.A517V	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1335	Extracellular (Potential).|LDL-receptor class B 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCTGGAGTAGCCAGGCCATG	0.473										TSP Lung(27;0.18)			A	141641551	G	A	141641551	3	1	98	1	0	0	0	0	1	0	0	0	8955	971	34	2	10063	2	LRP1B	2	141641551	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	497994	141641551	101557822	233	64563											
GTDC1	79712	broad.mit.edu	37	chr2	144765060	144765060	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgccatttcctttaaggccGagcatcttctttaaatgggt	8	11	2	0	rs116416428	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:144765060G>A	uc002tvp.2	-	7	843	c.564C>T	c.(562-564)CTC>CTT	p.L188L	GTDC1_uc002tvo.2_Silent_p.L188L|GTDC1_uc002tvq.2_Intron|GTDC1_uc002tvr.2_Silent_p.L188L|GTDC1_uc010fnn.2_Silent_p.L188L|GTDC1_uc002tvs.2_Silent_p.L156L|GTDC1_uc010fno.2_Silent_p.L59L|GTDC1_uc002tvt.1_Silent_p.L188L	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	188					biosynthetic process		transferase activity, transferring glycosyl groups			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CTTTAAGGCCGAGCATCTTCT	0.373													A	144765060	G	A	144765060	2	1	98	1	0	0	0	0	0	0	0	1	6851	1045	37	1		1	GTDC1	2	144765060	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3123509	144765060	98434313	234	64564											
MBD5	55777	broad.mit.edu	37	chr2	149247283	149247283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccatgagtgccttcactgCctcaattggtgacccattaa	8	12	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:149247283C>T	uc002twm.3	+	12	4371	c.3383C>T	c.(3382-3384)GCC>GTC	p.A1128V	MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.A1128V|MBD5_uc002two.2_Missense_Mutation_p.A386V|MBD5_uc002twp.2_Missense_Mutation_p.A178V	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1128						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCCTTCACTGCCTCAATTGGT	0.507													T	149247283	C	T	149247283	3	4	98	1	0	0	0	0	1	0	0	0	9347	739	26	2	3409	2	MBD5	2	149247283	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	4482223	149247283	93952090	235	64565											
NEB	4703	broad.mit.edu	37	chr2	152411514	152411514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcaacacttcttggtaaCgtataaagagctttgaactt	7	8	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:152411514C>T	uc010fnx.2	-	97	14447	c.14256G>A	c.(14254-14256)ACG>ACA	p.T4752T	NEB_uc002txr.2_Silent_p.T1175T	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	4752					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTTGGTAACGTATAAAGAG	0.323													T	152411514	C	T	152411514	2	4	98	1	0	0	0	0	0	0	0	1	10302	523	19	1		1	NEB	2	152411514	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3164231	152411514	90787859	236	64566											
NEB	4703	broad.mit.edu	37	chr2	152580788	152580788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttaccttgctgaacatggCggtgttcttaacggcctgga	11	11	1	1	rs116678485	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:152580788C>T	uc010fnx.2	-	8	789	c.598G>A	c.(598-600)GCC>ACC	p.A200T		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	200	Nebulin 4.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGAACATGGCGGTGTTCTTA	0.453													T	152580788	C	T	152580788	3	4	98	1	0	0	0	0	1	0	0	0	10302	768	27	1	25788	1	NEB	2	152580788	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	169274	152580788	90618585	237	64567											
TANC1	85461	broad.mit.edu	37	chr2	160053147	160053147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggataagaagggccagtGtgcgcttgtccacagtgccc	13	11	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:160053147G>A	uc002uag.2	+	18	3282	c.3008G>A	c.(3007-3009)TGT>TAT	p.C1003Y	TANC1_uc010zcm.1_Missense_Mutation_p.C995Y|TANC1_uc010fom.1_Missense_Mutation_p.C809Y|TANC1_uc010fon.2_5'Flank	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1003	ANK 4.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						AAGGGCCAGTGTGCGCTTGTC	0.602													A	160053147	G	A	160053147	3	1	98	1	0	0	0	0	1	0	0	0	15541	1377	48	4	3070	4	TANC1	2	160053147	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	7472359	160053147	83146226	238	64568											
SLC4A10	57282	broad.mit.edu	37	chr2	162719484	162719485	+	Frame_Shift_Ins	INS	-	-	A													agcatcatcatcagaatcagINSaaaaaactcaccaacaggat							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:162719484_162719485insA	uc002ubx.3	+	6	862_863	c.678_679insA	c.(676-681)CAGAAAfs	p.Q226fs	SLC4A10_uc010fpa.1_Frame_Shift_Ins_p.Q238fs|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Frame_Shift_Ins_p.Q226fs|SLC4A10_uc010zcs.1_Frame_Shift_Ins_p.Q237fs	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	226_227	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						ATCAGAATCAGAAAAAACTCAC	0.401													A	162719485	-	A	162719484	7	5	98	1	0	1	1	0	0	0	0	0	14651	933	33	0	785	0	SLC4A10	2	162719484	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	2666337	162719484	80479889	239	64569	307	2									
SLC4A10	57282	broad.mit.edu	37	chr2	162719485	162719486	+	Frame_Shift_Ins	INS	-	-	A													gcatcatcatcagaatcagaINSaaaaactcaccaacaggatt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:162719484_162719485G>GA	uc002ubx.4	+	5	862_863	c.678_679G>GA	c.(676-681)cagaaafs	p.Q226fs	SLC4A10_uc010fpa.1_Frame_Shift_Ins_p.Q238fs|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Frame_Shift_Ins_p.Q237fs|SLC4A10_uc002uby.4_Frame_Shift_Ins_p.Q226fs	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	226					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATCAGAATCAGAAAAAACTCAC	0.401													A	162719486	-	A	162719485	7	5	98	1	0	1	1	0	0	0	0	0	14651	247	9	0	786	0	SLC4A10	2	162719485	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	1	162719485	80479888	240	64570	307	2									
FIGN	55137	broad.mit.edu	37	chr2	164466372	164466372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactattatctggtgcctcGctgtgctgtcaggaagtggg	14	8	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:164466372G>A	uc002uck.1	-	3	2281	c.1970C>T	c.(1969-1971)GCG>GTG	p.A657V		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	657						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						CTGGTGCCTCGCTGTGCTGTC	0.453													A	164466372	G	A	164466372	3	1	98	1	0	0	0	0	1	0	0	0	5891	1087	38	1	313	1	FIGN	2	164466372	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1746887	164466372	78733001	241	64571											
ABCB11	8647	broad.mit.edu	37	chr2	169851961	169851961	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttctcattttctgtatcTgacgagctgcggcaatgacc	8	10	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:169851961T>C	uc002ueo.1	-	7	635	c.509A>G	c.(508-510)CAG>CGG	p.Q170R		NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	170	ABC transmembrane type-1 1.|Cytoplasmic (Potential).				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTTCTGTATCTGACGAGCTGC	0.358													C	169851961	T	C	169851961	3	2	98	1	0	0	0	0	1	0	0	0	42	1580	55	3	3544	3	ABCB11	2	169851961	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	5385589	169851961	73347412	242	64572											
DHRS9	10170	broad.mit.edu	37	chr2	169938083	169938083	+	Frame_Shift_Del	DEL	G	G	-													gagtgtacctatcacacacaGggggaaaaatgctcttttgg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:169938082_169938082AG>A	uc010zdc.2	+	1	283	c.171_171AG>A	c.(169-171)acafs	p.T57fs	DHRS9_uc002uep.3_5'UTR|DHRS9_uc002ueq.3_5'UTR|DHRS9_uc002uer.1_5'UTR|DHRS9_uc010zdd.2_5'UTR|DHRS9_uc010zde.2_5'UTR	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	0					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TATCACACACAGGGGGAAAAA	0.388													-	169938083	G	-	169938083	7	5	98	1	0	1	0	1	0	0	0	0	4498	1015	35	0		0	DHRS9	2	169938083	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	86122	169938083	73261290	243	64573											
LRP2	4036	broad.mit.edu	37	chr2	170031820	170031820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcccagtcggcagaagcGctgcgggcaaagggccagtt	15	12	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:170031820G>A	uc002ues.2	-	55	10864	c.10651C>T	c.(10651-10653)CGC>TGC	p.R3551C		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3551	LDL-receptor class A 27.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CGGCAGAAGCGCTGCGGGCAA	0.532													A	170031820	G	A	170031820	3	1	98	1	0	0	0	0	1	0	0	0	8956	1087	38	1	3416	1	LRP2	2	170031820	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	93737	170031820	73167553	244	64574											
LRP2	4036	broad.mit.edu	37	chr2	170042319	170042319	+	Frame_Shift_Del	DEL	G	G	-													ctggttctcggaggtagcctGgggcacacttacagatgtag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:170042318_170042318TG>T	uc002ues.3	-	49	9753	c.9540_9540CA>A	c.(9538-9540)ccafs	p.P3180fs		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3180	EGF-like 12; calcium-binding (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGAGGTAGCCTGGGGCACACT	0.433													-	170042319	G	-	170042319	7	5	98	1	0	1	0	1	0	0	0	0	8956	1348	47	0	4548	0	LRP2	2	170042319	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	10499	170042319	73157054	245	64575											
LRP2	4036	broad.mit.edu	37	chr2	170088299	170088299	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtaaaaatgaggcccctGtgaggaaagcaggcagagat	15	6	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:170088299G>A	uc002ues.2	-	31	5365	c.5152C>T	c.(5152-5154)CAG>TAG	p.Q1718*		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1718	EGF-like 7.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGAGGCCCCTGTGAGGAAAGC	0.488													A	170088299	G	A	170088299	4	1	98	1	0	0	0	0	0	1	0	0	8956	1386	48	4	9011	4	LRP2	2	170088299	Nonsense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	45980	170088299	73111074	246	64576											
KBTBD10	10324	broad.mit.edu	37	chr2	170356084	170356084	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caattcacttcacaaagtctAttctgccagtcccatatttg	4	12	4	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:170356084A>G	uc010zdh.1	+	9	828	c.770A>G	c.(769-771)TAT>TGT	p.Y257C	BBS5_uc002uet.2_Missense_Mutation_p.Y257C|BBS5_uc010fpw.2_Missense_Mutation_p.Y236C	NM_152384	NP_689597	O60662	KBTBA_HUMAN	Bardet-Biedl syndrome 5	Error:Variant_position_missing_in_O60662_after_alignment					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle					0						CACAAAGTCTATTCTGCCAGT	0.333													G	170356084	A	G	170356084	3	3	98	1	0	0	0	0	1	0	0	0	7990	449	16	3		3	KBTBD10	2	170356084	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	267785	170356084	72843289	247	64577											
HOXD3	3232	broad.mit.edu	37	chr2	177036706	177036706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctacgcagcgccggagttcGagccccatcccatggcgagc	13	16	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:177036706G>A	uc002ukt.1	+	3	1179	c.1003G>A	c.(1003-1005)GAG>AAG	p.E335K		NM_006898	NP_008829	P31249	HXD3_HUMAN	homeobox D3	335					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GCCGGAGTTCGAGCCCCATCC	0.662													A	177036706	G	A	177036706	3	1	98	1	0	0	0	0	1	0	0	0	7323	1059	37	1	1009	1	HOXD3	2	177036706	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	6680622	177036706	66162667	248	64578											
MTX2	10651	broad.mit.edu	37	chr2	177194090	177194090	+	Frame_Shift_Del	DEL	A	A	-													gaatcatattttggcctatcAaaaacagtgggaagtcaaac							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:177194090delA	uc002ukx.2	+	8	714	c.479delA	c.(478-480)CAAfs	p.Q160fs	MTX2_uc002ukw.2_Frame_Shift_Del_p.Q150fs	NM_006554	NP_006545	O75431	MTX2_HUMAN	metaxin 2	160					protein targeting to mitochondrion	mitochondrial outer membrane				ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			TTGGCCTATCAAAAACAGTGG	0.403													-	177194090	A	-	177194090	7	5	98	1	0	1	0	1	0	0	0	0	9968	130	5	0	509	0	MTX2	2	177194090	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	157384	177194090	66005283	249	64579											
TTC30A	92104	broad.mit.edu	37	chr2	178482854	178482854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taataggccaaagccaggttGtaggaaaggtcaggctggta	14	6	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:178482854G>A	uc002ulo.2	-	1	841	c.576C>T	c.(574-576)TAC>TAT	p.Y192Y		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	192	TPR 4.				cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			AAGCCAGGTTGTAGGAAAGGT	0.537													A	178482854	G	A	178482854	2	1	98	1	0	0	0	0	0	0	0	1	16695	1372	48	4		4	TTC30A	2	178482854	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1288764	178482854	64716519	250	64580											
TTC30A	92104	broad.mit.edu	37	chr2	178483410	178483410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccccgtcggggatctgcGcgccgctcagaccagccata	11	17	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:178483410G>A	uc002ulo.2	-	1	285	c.20C>T	c.(19-21)GCG>GTG	p.A7V		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	7					cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GGGGATCTGCGCGCCGCTCAG	0.652													A	178483410	G	A	178483410	3	1	98	1	0	0	0	0	1	0	0	0	16695	1087	38	1	1981	1	TTC30A	2	178483410	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	556	178483410	64715963	251	64581											
TTN	7273	broad.mit.edu	37	chr2	179403387	179403387	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaacctcctattgtgaattGcttgtccttaatacgttcct	5	11	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:179403387G>T	uc010zfg.1	-	303	91689	c.91465C>A	c.(91465-91467)CAA>AAA	p.Q30489K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q24184K|TTN_uc010zfi.1_Missense_Mutation_p.Q24117K|TTN_uc010zfj.1_Missense_Mutation_p.Q23992K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31416							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGTGAATTGCTTGTCCTTA	0.438													T	179403387	G	T	179403387	3	4	98	1	0	0	0	0	1	0	0	0	16732	1328	46	5	8846	5	TTN	2	179403387	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	919977	179403387	63795986	252	64582											
TTN	7273	broad.mit.edu	37	chr2	179421666	179421666	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaagacacggaattcataCtgggaattctgagtcaagcc	10	9	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:179421666C>T	uc010zfg.1	-	279	80735	c.80511G>A	c.(80509-80511)CAG>CAA	p.Q26837Q	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.Q20532Q|TTN_uc010zfi.1_Silent_p.Q20465Q|TTN_uc010zfj.1_Silent_p.Q20340Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27764							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAATTCATACTGGGAATTCT	0.453													T	179421666	C	T	179421666	2	4	98	1	0	0	0	0	0	0	0	1	16732	564	20	4		4	TTN	2	179421666	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	18279	179421666	63777707	253	64583											
TTN	7273	broad.mit.edu	37	chr2	179444798	179444798	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgttttggagcactcagTtgtcactgtagaccaggatt	11	8	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:179444798T>C	uc010zfg.1	-	267	59736	c.59512A>G	c.(59512-59514)ACT>GCT	p.T19838A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T13533A|TTN_uc010zfi.1_Missense_Mutation_p.T13466A|TTN_uc010zfj.1_Missense_Mutation_p.T13341A|uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20765							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGCACTCAGTTGTCACTGTA	0.453													C	179444798	T	C	179444798	3	2	98	1	0	0	0	0	1	0	0	0	16732	1725	60	3	40943	3	TTN	2	179444798	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	23132	179444798	63754575	254	64584											
TTN	7273	broad.mit.edu	37	chr2	179457718	179457718	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatataacccagaatcttgcTcccaccatcatgacgtggtg	7	12	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:179457718T>A	uc010zfg.1	-	249	51648	c.51424A>T	c.(51424-51426)AGC>TGC	p.S17142C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S10837C|TTN_uc010zfi.1_Missense_Mutation_p.S10770C|TTN_uc010zfj.1_Missense_Mutation_p.S10645C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18069							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAATCTTGCTCCCACCATCA	0.418													A	179457718	T	A	179457718	3	1	98	1	0	0	0	0	1	0	0	0	16732	1551	54	5	49103	5	TTN	2	179457718	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	12920	179457718	63741655	255	64585											
TTN	7273	broad.mit.edu	37	chr2	179466856	179466856	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagtcctgtgctccaatgTcaatgaaaacttctggttcc	8	11	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:179466856T>G	uc010zfg.1	-	233	47662	c.47438A>C	c.(47437-47439)GAC>GCC	p.D15813A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D9508A|TTN_uc010zfi.1_Missense_Mutation_p.D9441A|TTN_uc010zfj.1_Missense_Mutation_p.D9316A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16740							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTCCAATGTCAATGAAAAC	0.373													G	179466856	T	G	179466856	3	3	98	1	0	0	0	0	1	0	0	0	16732	1667	58	5	52867	5	TTN	2	179466856	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	9138	179466856	63732517	256	64586											
TTN	7273	broad.mit.edu	37	chr2	179474470	179474470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggttcactaatacccgcgGcgttctctgctcgcacacgg	10	14	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:179474470G>A	uc010zfg.1	-	221	44200	c.43976C>T	c.(43975-43977)GCC>GTC	p.A14659V	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A8354V|TTN_uc010zfi.1_Missense_Mutation_p.A8287V|TTN_uc010zfj.1_Missense_Mutation_p.A8162V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15586							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATACCCGCGGCGTTCTCTGC	0.473													A	179474470	G	A	179474470	3	1	98	1	0	0	0	0	1	0	0	0	16732	1203	42	2	56377	2	TTN	2	179474470	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	7614	179474470	63724903	257	64587											
TTN	7273	broad.mit.edu	37	chr2	179584925	179584925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagccctccactatggccCgtaactcaacagcatcccca	7	17	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:179584925C>T	uc010zfg.1	-	78	19936	c.19712G>A	c.(19711-19713)CGG>CAG	p.R6571Q	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3232Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7498							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTATGGCCCGTAACTCAAC	0.423													T	179584925	C	T	179584925	3	4	98	1	0	0	0	0	1	0	0	0	16732	652	23	1	81213	1	TTN	2	179584925	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	110455	179584925	63614448	258	64588											
TTN	7273	broad.mit.edu	37	chr2	179659863	179659863	+	Frame_Shift_Del	DEL	G	G	-													cgtagccctcttgcttccaaGggggaggcacttcaggacct							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:179659862_179659862AG>A	uc021vsy.1	-	6	1257	c.1032_1032CT>T	c.(1030-1032)cctfs	p.P344fs	TTN_uc021vsz.1_Frame_Shift_Del_p.P344fs|TTN_uc021vta.1_Frame_Shift_Del_p.P344fs|TTN_uc021vtb.1_Frame_Shift_Del_p.P344fs|TTN_uc002unb.2_Frame_Shift_Del_p.P344fs|TTN_uc010frg.1_Frame_Shift_Del_p.P18fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	344							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGCTTCCAAGGGGGAGGCA	0.547													-	179659863	G	-	179659863	7	5	98	1	0	1	0	1	0	0	0	0	16732	1000	35	0	110381	0	TTN	2	179659863	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	74938	179659863	63539510	259	64589											
SESTD1	91404	broad.mit.edu	37	chr2	179989141	179989141	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgtaagagattttgccTaaattccagctgactggcct	9	9	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:179989141T>C	uc002uni.3	-	11	1267	c.1117A>G	c.(1117-1119)AGG>GGG	p.R373G	SESTD1_uc002unh.3_5'UTR	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	373	Spectrin 1.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGATTTTGCCTAAATTCCAGC	0.393													C	179989141	T	C	179989141	3	2	98	1	0	0	0	0	1	0	0	0	14127	1521	53	3	1005	3	SESTD1	2	179989141	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	329278	179989141	63210232	260	64590											
ZNF385B	151126	broad.mit.edu	37	chr2	180308114	180308114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgacagcgctgaggacaCggctgccgccgctgcgagag	17	12	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:180308114C>T	uc002unn.3	-	10	1883	c.1279G>A	c.(1279-1281)GTG>ATG	p.V427M	ZNF385B_uc002unj.2_Missense_Mutation_p.V325M|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Missense_Mutation_p.V324M|ZNF385B_uc002unm.2_Missense_Mutation_p.V351M	NM_152520	NP_689733	Q569K4	Z385B_HUMAN	zinc finger protein 385B isoform 1	427						nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GCTGAGGACACGGCTGCCGCC	0.617													T	180308114	C	T	180308114	3	4	98	1	0	0	0	0	1	0	0	0	17874	536	19	1	140	1	ZNF385B	2	180308114	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	318973	180308114	62891259	261	64591											
FRZB	2487	broad.mit.edu	37	chr2	183730895	183730895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggccaggttctccggccacGagtggcggtacttgatgagt	15	10	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:183730895G>A	uc002upa.1	-	1	604	c.386C>T	c.(385-387)TCG>TTG	p.S129L		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	frizzled-related protein precursor	129	FZ.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CTCCGGCCACGAGTGGCGGTA	0.622													A	183730895	G	A	183730895	3	1	98	1	0	0	0	0	1	0	0	0	6065	1059	37	1	615	1	FRZB	2	183730895	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3422781	183730895	59468478	262	64592											
COL5A2	1290	broad.mit.edu	37	chr2	189917735	189917735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttttactccaggctgtcCgtcaggaccctataaaaaat	6	12	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:189917735C>T	uc002uqk.2	-	39	2838	c.2563G>A	c.(2563-2565)GGA>AGA	p.G855R	COL5A2_uc010frx.2_Missense_Mutation_p.G431R	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	855					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAGGCTGTCCGTCAGGACCC	0.398													T	189917735	C	T	189917735	3	4	98	1	0	0	0	0	1	0	0	0	3697	661	23	1	2000	1	COL5A2	2	189917735	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	6186840	189917735	53281638	263	64593											
AOX1	316	broad.mit.edu	37	chr2	201460064	201460064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtacagtgatgatatcacGatacaaccccatcaccaaga	6	11	2	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:201460064G>A	uc002uvx.2	+	3	274	c.173G>A	c.(172-174)CGA>CAA	p.R58Q		NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	58	2Fe-2S ferredoxin-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ATGATATCACGATACAACCCC	0.378													A	201460064	G	A	201460064	3	1	98	1	0	0	0	0	1	0	0	0	729	1058	37	1	183	1	AOX1	2	201460064	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	11542329	201460064	41739309	264	64594											
AOX1	316	broad.mit.edu	37	chr2	201485877	201485877	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaagctctcagcatgcccGgtgtggtggacatcatgaca	12	11	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:201485877G>T	uc002uvx.2	+	18	2010	c.1909G>T	c.(1909-1911)GGT>TGT	p.G637C	AOX1_uc010zhf.1_Missense_Mutation_p.G193C|AOX1_uc010fsu.2_Missense_Mutation_p.G3C	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	637					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CAGCATGCCCGGTGTGGTGGA	0.453													T	201485877	G	T	201485877	3	4	98	1	0	0	0	0	1	0	0	0	729	1116	39	5	1979	5	AOX1	2	201485877	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	25813	201485877	41713496	265	64595											
FZD7	8324	broad.mit.edu	37	chr2	202900038	202900038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccgtacctgggctaccGcttcctgggtgagcgcgatt	13	15	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:202900038G>A	uc002uyw.1	+	1	729	c.668G>A	c.(667-669)CGC>CAC	p.R223H		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	223	Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(2)|ovary(1)|breast(1)	4						CTGGGCTACCGCTTCCTGGGT	0.697											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	202900038	G	A	202900038	3	1	98	1	0	0	0	0	1	0	0	0	6135	1087	38	1	670	1	FZD7	2	202900038	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1414161	202900038	40299335	266	64596											
CYP20A1	57404	broad.mit.edu	37	chr2	204150354	204150354	+	Frame_Shift_Del	DEL	T	T	-													gtgtgtacctgggcaatctgTtttttaaccacctctgaaga							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:204150353_204150353GT>G	uc010zif.2	+	8	1515	c.893_893GT>G	c.(892-894)tgtfs	p.C298fs	CYP20A1_uc002uzv.4_Frame_Shift_Del_p.C290fs|CYP20A1_uc002uzx.4_Frame_Shift_Del_p.C188fs|CYP20A1_uc002uzy.4_Frame_Shift_Del_p.C188fs|CYP20A1_uc002uzw.4_Non-coding_Transcript|CYP20A1_uc010ftw.3_Frame_Shift_Del_p.C20fs	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	Homo sapiens cytochrome P450, family 20, subfamily A, polypeptide 1 (CYP20A1), mRNA.	290						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						TGGGCAATCTGTTTTTTAACC	0.323													-	204150354	T	-	204150354	7	5	98	1	0	1	0	1	0	0	0	0	4152	1731	60	0	904	0	CYP20A1	2	204150354	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	1250316	204150354	39049019	267	64597											
ADAM23	8745	broad.mit.edu	37	chr2	207460861	207460862	+	Frame_Shift_Ins	INS	-	-	C													atccagttaggaaccttcacINSccccccaaggatgaaggacc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:207460860_207460861A>AC	uc002vbq.3	+	23	2556_2557	c.2333_2334A>AC	c.(2332-2334)cacfs	p.H778fs	ADAM23_uc010ziv.2_Intron	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	778					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455													C	207460862	-	C	207460861	7	5	98	1	0	1	1	0	0	0	0	0	245	506	18	0	2428	0	ADAM23	2	207460861	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	3310507	207460861	35738512	268	64598											
RPE	6120	broad.mit.edu	37	chr2	210874443	210874443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccttcgaaagcagctagGccaggaccctttctttggta	10	11	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:210874443G>A	uc002vdn.2	+	2	190	c.185G>A	c.(184-186)GGC>GAC	p.G62D	RPE_uc002vdm.2_Missense_Mutation_p.G62D|RPE_uc002vdo.2_Intron|RPE_uc010zjf.1_Missense_Mutation_p.G62D|RPE_uc002vdp.2_Intron|RPE_uc010fup.2_Intron|RPE_uc002vdq.2_5'UTR|RPE_uc002vdr.2_5'UTR	NM_199229	NP_954699	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase isoform 1	62					pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity				0				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		AAGCAGCTAGGCCAGGACCCT	0.423													A	210874443	G	A	210874443	3	1	98	1	0	0	0	0	1	0	0	0	13544	1203	42	2	191	2	RPE	2	210874443	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3413582	210874443	32324930	269	64599											
ABCA12	26154	broad.mit.edu	37	chr2	215862460	215862460	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcatagacaagcttttttaCaaaggcagctataaatacaa	5	8	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:215862460C>A	uc002vew.2	-	23	3473	c.3253G>T	c.(3253-3255)GTA>TTA	p.V1085L	ABCA12_uc002vev.2_Missense_Mutation_p.V767L|ABCA12_uc010zjn.1_Missense_Mutation_p.V12L	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1085	Helical; (Potential).				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCTTTTTTACAAAGGCAGCT	0.348													A	215862460	C	A	215862460	3	1	98	1	0	0	0	0	1	0	0	0	30	478	17	5	4658	5	ABCA12	2	215862460	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	4988017	215862460	27336913	270	64600											
IGFBP2	3485	broad.mit.edu	37	chr2	217528750	217528750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagggagcccccaccatcCggggggaccccgagtgtcat	13	16	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:217528750C>T	uc010zjt.1	+	6	1030	c.880C>T	c.(880-882)CGG>TGG	p.R294W	IGFBP2_uc010zju.1_3'UTR	NM_000597	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2,	301	Cell attachment site.|Thyroglobulin type-1.				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding				0		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CCCCACCATCCGGGGGGACCC	0.652													T	217528750	C	T	217528750	3	4	98	1	0	0	0	0	1	0	0	0	7579	643	23	1	915	1	IGFBP2	2	217528750	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1666290	217528750	25670623	271	64601											
USP37	57695	broad.mit.edu	37	chr2	219346910	219346911	+	Frame_Shift_Del	DEL	GA	GA	-													gcccaatcttattgttaagcGagagagccacattgaagcta							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:219346909_219346910CGA>C	uc010fvs.1	-	16	2131_2132	c.1718_1719TCG>G	c.(1717-1719)tcgfs	p.S573fs	USP37_uc002vie.2_Frame_Shift_Del_p.S573fs|USP37_uc010zkf.1_Frame_Shift_Del_p.S573fs|USP37_uc002vif.2_Frame_Shift_Del_p.S573fs|USP37_uc002vig.2_Frame_Shift_Del_p.S501fs	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	573					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TATTGTTAAGCGAGAGAGCCAC	0.391													-	219346911	GA	-	219346910	7	5	98	1	0	1	0	1	0	0	0	0	17065	1059	37	0	1261	0	USP37	2	219346910	Frame_Shift_Del	DEL	GA	TCGA-BR-8591-01A-11D-2394-08	1818160	219346910	23852463	272	64602											
ZNF142	7701	broad.mit.edu	37	chr2	219508810	219508810	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctgcttgttctttgtccTgtctccttagggccttgagt	9	12	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:219508810T>C	uc002vin.2	-	8	2865	c.2429A>G	c.(2428-2430)CAG>CGG	p.Q810R	ZNF142_uc002vil.2_Missense_Mutation_p.Q771R|ZNF142_uc010fvt.2_Missense_Mutation_p.Q647R|ZNF142_uc002vim.2_Missense_Mutation_p.Q647R	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	810					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TTCTTTGTCCTGTCTCCTTAG	0.557													C	219508810	T	C	219508810	3	2	98	1	0	0	0	0	1	0	0	0	17728	1580	55	3	2646	3	ZNF142	2	219508810	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	161900	219508810	23690563	273	64603											
SPEG	10290	broad.mit.edu	37	chr2	220334065	220334065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggttccacaatggccacCgcatccagagcagcgacgac	11	15	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:220334065C>T	uc010fwg.2	+	13	3679	c.3679C>T	c.(3679-3681)CGC>TGC	p.R1227C		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1227	Ig-like 6.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CAATGGCCACCGCATCCAGAG	0.637													T	220334065	C	T	220334065	3	4	98	1	0	0	0	0	1	0	0	0	15035	652	23	1	3741	1	SPEG	2	220334065	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	825255	220334065	22865308	274	64604											
SPEG	10290	broad.mit.edu	37	chr2	220349122	220349122	+	Frame_Shift_Del	DEL	C	C	-													aagcccgagttcccacggtgCcccccaggccaggcagcagt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:220349122delC	uc010fwg.2	+	30	6937	c.6937delC	c.(6937-6939)CCCfs	p.P2313fs		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2313	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCCCACGGTGCCCCCCAGGCC	0.692													-	220349122	C	-	220349122	7	5	98	1	0	1	0	1	0	0	0	0	15035	739	26	0	7067	0	SPEG	2	220349122	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	15057	220349122	22850251	275	64605											
GMPPA	29926	broad.mit.edu	37	chr2	220366242	220366242	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcattggcttctaccaaccTgatgagcccctcacccagtt	6	16	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:220366242T>C	uc002vlr.2	+	4	251	c.183T>C	c.(181-183)CCT>CCC	p.P61P	GMPPA_uc002vls.2_Silent_p.P61P|GMPPA_uc002vlt.2_Silent_p.P61P|GMPPA_uc002vlu.2_Silent_p.P61P|GMPPA_uc002vlv.2_Silent_p.P61P|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Silent_p.P61P	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	61					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TCTACCAACCTGATGAGCCCC	0.542													C	220366242	T	C	220366242	2	2	98	1	0	0	0	0	0	0	0	1	6494	1567	55	3		3	GMPPA	2	220366242	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	17120	220366242	22833131	276	64606											
DOCK10	55619	broad.mit.edu	37	chr2	225727389	225727389	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcaacataccttactgcCcaagcaaaaggcatacggta	7	12	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:225727389C>A	uc010fwz.1	-	14	1916	c.1677G>T	c.(1675-1677)TGG>TGT	p.W559C	DOCK10_uc002vob.2_Missense_Mutation_p.W553C|DOCK10_uc002vod.1_Missense_Mutation_p.W559C	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	559							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ACCTTACTGCCCAAGCAAAAG	0.343													A	225727389	C	A	225727389	3	1	98	1	0	0	0	0	1	0	0	0	4685	624	22	5	5055	5	DOCK10	2	225727389	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	5361147	225727389	17471984	277	64607											
DOCK10	55619	broad.mit.edu	37	chr2	225729790	225729791	+	Frame_Shift_Ins	INS	-	-	A													cataaagtgccacactcacaINSaaaaaaggctcaatctgcat							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:225729789_225729790C>CA	uc010fwz.1	-	11	1511_1512	c.1272_1273G>TG	c.(1270-1275)tttgtgfs	p.F424fs	DOCK10_uc002vob.2_Frame_Shift_Ins_p.F418fs|DOCK10_uc002vod.1_Frame_Shift_Ins_p.F424fs	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	424							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GCCACACTCACAAAAAAAGGCT	0.401													A	225729791	-	A	225729790	7	5	98	1	0	1	1	0	0	0	0	0	4685	127	5	0	5468	0	DOCK10	2	225729790	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	2401	225729790	17469583	278	64608											
SPHKAP	80309	broad.mit.edu	37	chr2	228882616	228882617	+	Frame_Shift_Del	DEL	CT	CT	-													cagcggtcccgctcccctggCtctctttcttcctcttcaag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:228882615_228882616GCT>G	uc002vpq.2	-	6	3001_3002	c.2954_2955AGC>C	c.(2953-2955)agcfs	p.S985fs	SPHKAP_uc002vpp.2_Frame_Shift_Del_p.S985fs|SPHKAP_uc010zlx.1_Frame_Shift_Del_p.S985fs	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	985						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CGCTCCCCTGGCTCTCTTTCTT	0.53													-	228882617	CT	-	228882616	7	5	98	1	0	1	0	1	0	0	0	0	15047	797	28	0	2172	0	SPHKAP	2	228882616	Frame_Shift_Del	DEL	CT	TCGA-BR-8591-01A-11D-2394-08	3152826	228882616	14316757	279	64609											
ALPI	248	broad.mit.edu	37	chr2	233323702	233323702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggagcagagcttcgtagCgcatgtcatggccttcgctg	14	11	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:233323702C>T	uc002vst.3	+	11	1510	c.1433C>T	c.(1432-1434)GCG>GTG	p.A478V	ALPI_uc002vsu.3_Missense_Mutation_p.A389V	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	478					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGCTTCGTAGCGCATGTCATG	0.706													T	233323702	C	T	233323702	3	4	98	1	0	0	0	0	1	0	0	0	543	768	27	1	1475	1	ALPI	2	233323702	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	4441086	233323702	9875671	280	64610											
NEU2	4759	broad.mit.edu	37	chr2	233899563	233899563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtgcctacctcaacccGcgacctccagcccctgaggc	10	19	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:233899563G>A	uc010zmn.1	+	2	939	c.939G>A	c.(937-939)CCG>CCA	p.P313P		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	neuraminidase 2	313							exo-alpha-sialidase activity				0		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		ACCTCAACCCGCGACCTCCAG	0.692													A	233899563	G	A	233899563	2	1	98	1	0	0	0	0	0	0	0	1	10342	1074	38	1		1	NEU2	2	233899563	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	575861	233899563	9299810	281	64611											
AGAP1	116987	broad.mit.edu	37	chr2	236708164	236708164	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgccggtccaacctgttcAccgtgagtgtcaaccctggg	12	14	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:236708164A>G	uc002vvs.2	+	8	1550	c.955A>G	c.(955-957)ACC>GCC	p.T319A	AGAP1_uc002vvt.2_Missense_Mutation_p.T319A	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	319					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						CAACCTGTTCACCGTGAGTGT	0.542													G	236708164	A	G	236708164	3	3	98	1	0	0	0	0	1	0	0	0	366	159	6	3	985	3	AGAP1	2	236708164	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	2808601	236708164	6491209	282	64612											
COL6A3	1293	broad.mit.edu	37	chr2	238277261	238277261	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcaggagtggctgcggaGggtccaaacgagttcatgat	17	7	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:238277261G>A	uc002vwl.2	-	10	5130	c.4845C>T	c.(4843-4845)CCC>CCT	p.P1615P	COL6A3_uc002vwo.2_Silent_p.P1409P|COL6A3_uc010znj.1_Silent_p.P1008P	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1615	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGGCTGCGGAGGGTCCAAACG	0.542													A	238277261	G	A	238277261	2	1	98	1	0	0	0	0	0	0	0	1	3701	987	35	4		4	COL6A3	2	238277261	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1569097	238277261	4922112	283	64613											
ESPNL	339768	broad.mit.edu	37	chr2	239039978	239039978	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgacctgccggcggaggagCggaagctgcgccacctgctg	17	14	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:239039978C>A	uc002vxq.3	+	9	2733	c.2623C>A	c.(2623-2625)CGG>AGG	p.R875R	ESPNL_uc010fyw.2_Silent_p.R571R	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	875										pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGCGGAGGAGCGGAAGCTGCG	0.667													A	239039978	C	A	239039978	2	1	98	1	0	0	0	0	0	0	0	1	5255	759	27	5		5	ESPNL	2	239039978	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	762717	239039978	4159395	284	64614											
KLHL30	377007	broad.mit.edu	37	chr2	239050088	239050088	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgccgtgcccaggccctgCgtgcagcaactgctggcctc	13	17	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:239050088C>T	uc002vxr.1	+	1	672	c.639C>T	c.(637-639)TGC>TGT	p.C213C		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	kelch-like 30	231	BACK.										0		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCAGGCCCTGCGTGCAGCAAC	0.711													T	239050088	C	T	239050088	2	4	98	1	0	0	0	0	0	0	0	1	8384	776	27	1		1	KLHL30	2	239050088	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	10110	239050088	4149285	285	64615											
HDAC4	9759	broad.mit.edu	37	chr2	239975238	239975238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgttctcgcaagtctgagCctcgatcagagaacgccccg	10	14	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:239975238C>T	uc002vyk.3	-	26	3925	c.3133G>A	c.(3133-3135)GCT>ACT	p.A1045T	HDAC4_uc010fyy.2_Missense_Mutation_p.A1002T	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	1045	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CAAGTCTGAGCCTCGATCAGA	0.637													T	239975238	C	T	239975238	3	4	98	1	0	0	0	0	1	0	0	0	7009	739	26	2	129	2	HDAC4	2	239975238	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	925150	239975238	3224135	286	64616											
NDUFA10	4705	broad.mit.edu	37	chr2	240954221	240954222	+	Frame_Shift_Ins	INS	-	-	G													tcgatgtaaatcaccaggtgINSggggggcaggtaatcgcaga							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:240954220_240954221T>TG	uc010fzc.2	-	5	825_826	c.724_725A>CA	c.(724-726)cacfs	p.H242fs	NDUFA10_uc002vyn.3_Frame_Shift_Ins_p.H202fs|NDUFA10_uc002vyo.2_Frame_Shift_Ins_p.H202fs	NM_004544	NP_004535	O95299	NDUAA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA.	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535													G	240954222	-	G	240954221	7	5	98	1	0	1	1	0	0	0	0	0	10260	1348	47	0	487	0	NDUFA10	2	240954221	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	978983	240954221	2245152	287	64617											
GAL3ST2	64090	broad.mit.edu	37	chr2	242741294	242741294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctcaacatcctctaccGcttcgccgagacccacaacc	7	18	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:242741294G>A	uc002wcj.1	+	3	349	c.218G>A	c.(217-219)CGC>CAC	p.R73H		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	73	Lumenal (Potential).				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		ATCCTCTACCGCTTCGCCGAG	0.667													A	242741294	G	A	242741294	3	1	98	1	0	0	0	0	1	0	0	0	6198	1087	38	1	228	1	GAL3ST2	2	242741294	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1787073	242741294	458079	288	64618											
ITPR1	3708	broad.mit.edu	37	chr3	4718358	4718358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgacccaggtggtgctccGgggaggaggctttttgccca	16	10	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:4718358G>A	uc003bqa.2	+	24	3161	c.2813G>A	c.(2812-2814)CGG>CAG	p.R938Q	ITPR1_uc010hca.1_Missense_Mutation_p.R923Q|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.R932Q	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	947	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GTGGTGCTCCGGGGAGGAGGC	0.562													A	4718358	G	A	4718358	3	1	98	1	0	0	0	0	1	0	0	0	7920	1116	39	1	2926	1	ITPR1	3	4718358	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08		4718358	193304072	289	64619											
RAD18	56852	broad.mit.edu	37	chr3	8944129	8944129	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttattgttactgttttttgtGacattccagcaattttcttg	6	6	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:8944129G>A	uc003brd.2	-	10	1180	c.1103C>T	c.(1102-1104)TCA>TTA	p.S368L	RAD18_uc003bre.2_RNA	NM_020165	NP_064550	Q9NS91	RAD18_HUMAN	postreplication repair protein hRAD18p	368					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			skin(3)|ovary(2)	5				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TGTTTTTTGTGACATTCCAGC	0.328								Rad6_pathway					A	8944129	G	A	8944129	3	1	98	1	0	0	0	0	1	0	0	0	12980	1294	45	4	400	4	RAD18	3	8944129	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	4225771	8944129	189078301	290	64620											
BRPF1	7862	broad.mit.edu	37	chr3	9781016	9781016	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacggtgtcccctatatcccTgagggccagtggctgtgccg	13	13	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:9781016T>C	uc003bse.2	+	3	1332	c.933T>C	c.(931-933)CCT>CCC	p.P311P	BRPF1_uc003bsf.2_Silent_p.P311P|BRPF1_uc003bsg.2_Silent_p.P311P|BRPF1_uc011ati.1_Silent_p.P311P	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	311	PHD-type.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					CCTATATCCCTGAGGGCCAGT	0.587													C	9781016	T	C	9781016	2	2	98	1	0	0	0	0	0	0	0	1	1520	1567	55	3		3	BRPF1	3	9781016	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	836887	9781016	188241414	291	64621											
MKRN2	23609	broad.mit.edu	37	chr3	12610389	12610389	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggtattttatgcatggTgtgtgtcgggaaggaagtca	15	4	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:12610389T>C	uc003bxd.2	+	2	98	c.42T>C	c.(40-42)GGT>GGC	p.G14G	MKRN2_uc003bxe.2_Silent_p.G14G|MKRN2_uc011aus.1_Intron	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	14	C3H1-type 1.					intracellular	ligase activity|nucleic acid binding|zinc ion binding				0						TTATGCATGGTGTGTGTCGGG	0.418													C	12610389	T	C	12610389	2	2	98	1	0	0	0	0	0	0	0	1	9607	1683	59	3		3	MKRN2	3	12610389	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	2829373	12610389	185412041	292	64622											
IQSEC1	9922	broad.mit.edu	37	chr3	12977614	12977614	+	Frame_Shift_Del	DEL	G	G	-													ctgcctgcgagaggggcagaGggggcgacagctcctcctca							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:12977613_12977613AG>A	uc003bxt.2	-	2	954	c.945_945CT>T	c.(943-945)cctfs	p.P315fs	IQSEC1_uc003bxu.3_Frame_Shift_Del_p.P193fs|IQSEC1_uc011auw.1_Frame_Shift_Del_p.P301fs	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	315					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGAGGGGCAGAGGGGGCGACA	0.677													-	12977614	G	-	12977614	7	5	98	1	0	1	0	1	0	0	0	0	7817	1000	35	0	2540	0	IQSEC1	3	12977614	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	367225	12977614	185044816	293	64623											
NUP210	23225	broad.mit.edu	37	chr3	13427823	13427823	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccttgtagtgaatggaggTtcccaccatcaggtagacgt	11	10	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:13427823T>C	uc003bxv.1	-	6	852	c.769A>G	c.(769-771)ACC>GCC	p.T257A		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	257	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					TGAATGGAGGTTCCCACCATC	0.463													C	13427823	T	C	13427823	3	2	98	1	0	0	0	0	1	0	0	0	10760	1725	60	3	5034	3	NUP210	3	13427823	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	450209	13427823	184594607	294	64624											
SLC6A6	6533	broad.mit.edu	37	chr3	14485232	14485232	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagcccaggcacgcggccTgaggacgaggctgagggaaa	17	10	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:14485232T>C	uc010heg.2	+	10	381	c.90T>C	c.(88-90)CCT>CCC	p.P30P	SLC6A6_uc010hee.1_Silent_p.P30P|SLC6A6_uc003byp.2_Silent_p.P30P|SLC6A6_uc010hef.1_RNA|SLC6A6_uc003byq.2_Silent_p.P30P|SLC6A6_uc003byr.2_RNA	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter	30	Cytoplasmic (Potential).				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			ovary(1)	1						GCACGCGGCCTGAGGACGAGG	0.582													C	14485232	T	C	14485232	2	2	98	1	0	0	0	0	0	0	0	1	14688	1567	55	3		3	SLC6A6	3	14485232	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1057409	14485232	183537198	295	64625											
C3orf19	51244	broad.mit.edu	37	chr3	14693376	14693376	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaaagcctttggacgtcacGgcctcctcggtgagtgaggg	14	10	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:14693376G>T	uc003byw.2	+	1	124	c.33G>T	c.(31-33)ACG>ACT	p.T11T	C3orf19_uc010hei.1_Silent_p.T11T	NM_016474	NP_057558	Q6PII3	CC019_HUMAN	hypothetical protein LOC51244	11											0						TGGACGTCACGGCCTCCTCGG	0.577													T	14693376	G	T	14693376	2	4	98	1	0	0	0	0	0	0	0	1	2212	1103	39	5		5	C3orf19	3	14693376	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	208144	14693376	183329054	296	64626											
KCNH8	131096	broad.mit.edu	37	chr3	19491653	19491653	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaatcatacagaggatgtaCtccagatggtccctctatca	8	11	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:19491653C>T	uc003cbk.1	+	9	1626	c.1431C>T	c.(1429-1431)TAC>TAT	p.Y477Y	KCNH8_uc011awe.1_Silent_p.Y477Y|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_Silent_p.Y136Y	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	477	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						AGAGGATGTACTCCAGATGGT	0.433													T	19491653	C	T	19491653	2	4	98	1	0	0	0	0	0	0	0	1	8038	576	20	4		4	KCNH8	3	19491653	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	4798277	19491653	178530777	297	64627											
KCNH8	131096	broad.mit.edu	37	chr3	19554728	19554729	+	Frame_Shift_Ins	INS	-	-	C													aaaccaagcaggaaattgacINSccccccaaccataataaaag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:19554727_19554728A>AC	uc003cbk.1	+	12	2540_2541	c.2345_2346A>AC	c.(2344-2346)gacfs	p.D782fs	KCNH8_uc010hex.1_Frame_Shift_Ins_p.D243fs	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	782						integral to membrane	two-component sensor activity	p.N785fs*3(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGGAAATTGACCCCCCCAACC	0.47													C	19554729	-	C	19554728	7	5	98	1	0	1	1	0	0	0	0	0	8038	506	18	0	2396	0	KCNH8	3	19554728	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	63075	19554728	178467702	298	64628											
ZNF385D	79750	broad.mit.edu	37	chr3	21552445	21552445	+	Frame_Shift_Del	DEL	T	T	-													cagttacagatttctgcttaTttttcatggcttccagtgct							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:21552444_21552444AT>A	uc003cce.3	-	3	756	c.348_348AT>T	c.(346-348)aatfs	p.N116fs	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	116						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ATTTCTGCTTATTTTTCATGG	0.458													-	21552445	T	-	21552445	7	5	98	1	0	1	0	1	0	0	0	0	17875	1493	52	0	860	0	ZNF385D	3	21552445	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	1997717	21552445	176469985	299	64629											
TRIM71	131405	broad.mit.edu	37	chr3	32859727	32859727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgggggccctggggcggCggcgcgccgcctacacgtcc	19	17	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:32859727C>T	uc003cff.2	+	1	218	c.155C>T	c.(154-156)GCG>GTG	p.A52V		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	52	RING-type.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						cctggggcggcggcgcgccgc	0.468													T	32859727	C	T	32859727	3	4	98	1	0	0	0	0	1	0	0	0	16541	768	27	1	157	1	TRIM71	3	32859727	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	11307282	32859727	165162703	300	64630											
CLASP2	23122	broad.mit.edu	37	chr3	33602361	33602362	+	Frame_Shift_Ins	INS	-	-	T													ccaagcaaatcagcacccatINStttttttagtagttgtgtca					rs76701586		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:33602360_33602361A>AT	uc021wvc.1	-	27	3104_3105	c.2893_2894T>AT	c.(2893-2895)atgfs	p.M965fs	CLASP2_uc003cfs.3_Frame_Shift_Ins_p.M164fs|CLASP2_uc021wva.1_Frame_Shift_Ins_p.M39fs|CLASP2_uc021wvb.1_Frame_Shift_Ins_p.M744fs|CLASP2_uc011axt.1_Frame_Shift_Ins_p.M557fs	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	966										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ATCAGCACCCATTTTTTTTAGT	0.342													T	33602362	-	T	33602361	7	5	98	1	0	1	1	0	0	0	0	0	3455	1493	52	0	1699	0	CLASP2	3	33602361	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	742634	33602361	164420069	301	64631											
EPM2AIP1	9852	broad.mit.edu	37	chr3	37034280	37034281	+	Frame_Shift_Del	DEL	CT	CT	-													cccgaggcctgcacgagcagCtctctcttcaggagtgaagg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:37034279_37034280GCT>G	uc003cgk.3	-	0	516_517	c.289_290AGC>C	c.(289-291)gctfs	p.A97fs	MLH1_uc011aye.2_5'Flank|MLH1_uc003cgl.3_5'Flank|MLH1_uc011ayb.2_5'Flank|MLH1_uc010hge.3_5'Flank|MLH1_uc011ayc.2_5'Flank|MLH1_uc011ayd.2_5'Flank|MLH1_uc003cgo.3_5'Flank|MLH1_uc003cgn.4_5'Flank	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN	Homo sapiens EPM2A (laforin) interacting protein 1 (EPM2AIP1), mRNA.	97						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TGCACGAGCAGCTCTCTCTTCA	0.649													-	37034281	CT	-	37034280	7	5	98	1	0	1	0	1	0	0	0	0	5184	797	28	0	1538	0	EPM2AIP1	3	37034280	Frame_Shift_Del	DEL	CT	TCGA-BR-8591-01A-11D-2394-08	3431919	37034280	160988150	302	64632											
GOLGA4	2803	broad.mit.edu	37	chr3	37323751	37323751	+	Frame_Shift_Del	DEL	A	A	-													agcttaagtagctacaggggAaaatattctgaggtaggagc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:37323750_37323750GA>G	uc003cgv.3	+	2	824	c.464_464GA>G	c.(463-465)ggafs	p.G155fs	GOLGA4_uc010hgr.2_Intron|GOLGA4_uc003cgw.3_Frame_Shift_Del_p.G177fs|GOLGA4_uc010hgs.3_Frame_Shift_Del_p.G155fs|GOLGA4_uc003cgx.3_Frame_Shift_Del_p.G36fs|GOLGA4_uc003cgu.2_Frame_Shift_Del_p.G177fs	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	155	Interaction with MACF1.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCTACAGGGGAAAATATTCT	0.418													-	37323751	A	-	37323751	7	5	98	1	0	1	0	1	0	0	0	0	6555	233	9	0	545	0	GOLGA4	3	37323751	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	289471	37323751	160698679	303	64633											
SLC22A14	9389	broad.mit.edu	37	chr3	38357186	38357186	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctctacaccgctgagctcCtccccactgtgctcaggtat	7	17	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:38357186C>A	uc010hhc.1	+	9	1558	c.1516C>A	c.(1516-1518)CTC>ATC	p.L506I	SLC22A14_uc003cib.2_Missense_Mutation_p.L506I|SLC22A14_uc011ayo.1_RNA	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	organic cation transporter like 4	506	Helical; (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CGCTGAGCTCCTCCCCACTGT	0.557													A	38357186	C	A	38357186	3	1	98	1	0	0	0	0	1	0	0	0	14445	681	24	5	1546	5	SLC22A14	3	38357186	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1033435	38357186	159665244	304	64634											
SCN10A	6336	broad.mit.edu	37	chr3	38765017	38765017	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggcagtccaccgtgctgcCctcagaggagcttgtgtcgt	13	12	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:38765017C>A	uc003ciq.2	-	18	3256	c.3256G>T	c.(3256-3258)GGC>TGC	p.G1086C		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1086					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACCGTGCTGCCCTCAGAGGAG	0.512													A	38765017	C	A	38765017	3	1	98	1	0	0	0	0	1	0	0	0	13912	623	22	5	2654	5	SCN10A	3	38765017	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	407831	38765017	159257413	305	64635											
SCN10A	6336	broad.mit.edu	37	chr3	38768219	38768219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccacacagtcggattagCgatgaagtcactgtgctcat	10	11	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:38768219C>T	uc003ciq.2	-	16	2965	c.2965G>A	c.(2965-2967)GCT>ACT	p.A989T		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	989					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTCGGATTAGCGATGAAGTCA	0.567													T	38768219	C	T	38768219	3	4	98	1	0	0	0	0	1	0	0	0	13912	768	27	1	2953	1	SCN10A	3	38768219	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3202	38768219	159254211	306	64636											
KBTBD5	131377	broad.mit.edu	37	chr3	42727236	42727236	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgcgggcgggcgagcgCgagttcccgtgccatcgcct	18	13	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:42727236C>T	uc003clv.1	+	1	226	c.126C>T	c.(124-126)CGC>CGT	p.R42R		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	42	BTB.									ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CGGGCGAGCGCGAGTTCCCGT	0.682													T	42727236	C	T	42727236	2	4	98	1	0	0	0	0	0	0	0	1	7996	755	27	1		1	KBTBD5	3	42727236	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3959017	42727236	155295194	307	64637											
CCDC13	152206	broad.mit.edu	37	chr3	42793519	42793519	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtcagggctgtctgcagcTgaaaaagcaaacctcgtgct	12	10	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:42793519T>C	uc003cly.3	-	5	598	c.514_splice	c.e5-1	p.L172_splice	CCDC13_uc003clz.2_Splice_Site_p.L172_splice|CCDC13_uc011azq.1_Splice_Site_p.L172_splice	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13											ovary(1)	1						TGTCTGCAGCTGAAAAAGCAA	0.557													C	42793519	T	C	42793519	5	2	98	1	0	0	0	0	0	0	1	0	2765	1594	55	3	1683	3	CCDC13	3	42793519	Splice_Site	SNP	T	TCGA-BR-8591-01A-11D-2394-08	66283	42793519	155228911	308	64638											
FYCO1	79443	broad.mit.edu	37	chr3	46008259	46008259	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcatcggccctctcctccTgcagtgccccttcacgctcc	6	22	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:46008259T>C	uc003cpb.3	-	8	2773	c.2567A>G	c.(2566-2568)CAG>CGG	p.Q856R	FYCO1_uc011bal.1_Missense_Mutation_p.Q856R	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	856	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCTCTCCTCCTGCAGTGCCCC	0.622													C	46008259	T	C	46008259	3	2	98	1	0	0	0	0	1	0	0	0	6125	1580	55	3	1913	3	FYCO1	3	46008259	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	3214740	46008259	152014171	309	64639											
PTPN23	25930	broad.mit.edu	37	chr3	47447502	47447502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacagcgtcgacatgagccGccagatccttacgctcaacg	9	15	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:47447502G>A	uc003crf.1	+	6	608	c.512G>A	c.(511-513)CGC>CAC	p.R171H	PTPN23_uc011baw.1_Missense_Mutation_p.R136H|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.R41H	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	171	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GACATGAGCCGCCAGATCCTT	0.617													A	47447502	G	A	47447502	3	1	98	1	0	0	0	0	1	0	0	0	12788	1087	38	1	534	1	PTPN23	3	47447502	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1439243	47447502	150574928	310	64640											
COL7A1	1294	broad.mit.edu	37	chr3	48626315	48626315	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccataccttcactccggcCccaggccagtctgtaagctg	9	16	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:48626315C>A	uc003ctz.2	-	18	2429	c.2428G>T	c.(2428-2430)GGC>TGC	p.G810C		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	810	Nonhelical region (NC1).|Fibronectin type-III 7.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCACTCCGGCCCCAGGCCAGT	0.632													A	48626315	C	A	48626315	3	1	98	1	0	0	0	0	1	0	0	0	3704	623	22	5	6810	5	COL7A1	3	48626315	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1178813	48626315	149396115	311	64641											
WDR6	11180	broad.mit.edu	37	chr3	49050488	49050488	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccaggtgacttcctggtGtgtggtgaccgccggggctc	15	14	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:49050488G>A	uc003cvj.2	+	2	1749	c.1611G>A	c.(1609-1611)GTG>GTA	p.V537V	WDR6_uc011bbx.1_Missense_Mutation_p.C366Y|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Silent_p.V481V|WDR6_uc011bbz.1_Silent_p.V456V	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	507	WD 8.				cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		ACTTCCTGGTGTGTGGTGACC	0.627													A	49050488	G	A	49050488	2	1	98	1	0	0	0	0	0	0	0	1	17307	1364	48	4		4	WDR6	3	49050488	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	424173	49050488	148971942	312	64642											
NDUFAF3	25915	broad.mit.edu	37	chr3	49060598	49060598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatctttgggccaagctgCtcaatgaaccgccaggaact	9	12	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:49060598C>T	uc003cvq.2	+	5	1052	c.548C>T	c.(547-549)GCT>GTT	p.A183V	DALRD3_uc003cvm.1_5'Flank|DALRD3_uc010hko.1_5'Flank|uc011bcb.1_5'Flank|MIR425_hsa-mir-425|MI0001448_5'Flank|NDUFAF3_uc003cvn.2_Missense_Mutation_p.A126V|uc003cvo.1_5'Flank|MIR191_hsa-mir-191|MI0000465_5'Flank|NDUFAF3_uc003cvp.2_Missense_Mutation_p.A126V|NDUFAF3_uc003cvr.2_Missense_Mutation_p.A126V|NDUFAF3_uc003cvs.2_Missense_Mutation_p.A126V	NM_199069	NP_951032	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	183					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding				0						GGCCAAGCTGCTCAATGAACC	0.512													T	49060598	C	T	49060598	3	4	98	1	0	0	0	0	1	0	0	0	10276	797	28	2	566	2	NDUFAF3	3	49060598	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	10110	49060598	148961832	313	64643											
BSN	8927	broad.mit.edu	37	chr3	49688112	49688113	+	Frame_Shift_Ins	INS	-	-	C													ggcagcctaggagagccgacINSccccctgccgccgcccacct							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:49688111_49688112A>AC	uc003cxe.4	+	3	1699_1700	c.1585_1586A>AC	c.(1585-1587)accfs	p.T529fs		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	529					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGGAGAGCCGACCCCCCTGCCG	0.619													C	49688113	-	C	49688112	7	5	98	1	0	1	1	0	0	0	0	0	1530	507	18	0	1600	0	BSN	3	49688112	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	627514	49688112	148334318	314	64644											
MST1	4485	broad.mit.edu	37	chr3	49722906	49722906	+	Splice_Site	DEL	G	G	-													actggcccaactcctaacctGgggggtccaggattgatggc					rs11393273		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:49722905_49722905TG>T	uc003cxg.3	-	12	1495	c.1423_splice	c.e12+1	p.D475_splice		NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	461					proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACTCCTAACCTGGGGGGTCCA	0.587													-	49722906	G	-	49722906	8	5	98	1	0	1	0	1	0	0	1	0	9890	1348	47	0	784	0	MST1	3	49722906	Splice_Site	DEL	G	TCGA-BR-8591-01A-11D-2394-08	34794	49722906	148299524	315	64645											
UBA7	7318	broad.mit.edu	37	chr3	49848752	49848752	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacccagcatggccaccataGggctcaagacacctgcactg	9	16	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:49848752G>T	uc003cxr.2	-	9	1247	c.1076C>A	c.(1075-1077)CCT>CAT	p.P359H		NM_003335	NP_003326	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	359	2 approximate repeats.			GVLSPMVAMLGAVAAQEVLKAISR -> RCLEPMVACWVSS CPGSAEGNLQ (in Ref. 1; AAA75388 and 2; AAG49557).	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)		GGCCACCATAGGGCTCAAGAC	0.512													T	49848752	G	T	49848752	3	4	98	1	0	0	0	0	1	0	0	0	16830	1000	35	5	2026	5	UBA7	3	49848752	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	125846	49848752	148173678	316	64646											
RBM6	10180	broad.mit.edu	37	chr3	50103805	50103805	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagccccagaagcgagaggAgcaaaccaagaaggagaatg	13	9	0	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:50103805A>C	uc003cyc.2	+	17	2946	c.2813A>C	c.(2812-2814)GAG>GCG	p.E938A	RBM6_uc010hlc.1_3'UTR|RBM6_uc003cyd.2_Missense_Mutation_p.E416A|RBM6_uc003cye.2_Missense_Mutation_p.E416A|RBM6_uc011bdi.1_Missense_Mutation_p.E280A|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	938					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AAGCGAGAGGAGCAAACCAAG	0.502													C	50103805	A	C	50103805	3	2	98	1	0	0	0	0	1	0	0	0	13144	304	11	5	2875	5	RBM6	3	50103805	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	255053	50103805	147918625	317	64647											
RBM5	10181	broad.mit.edu	37	chr3	50129540	50129540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagggatgaccgtgatgagCgtgaatcccgaagcaggcgg	16	9	0	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:50129540C>T	uc003cyg.2	+	3	230	c.82C>T	c.(82-84)CGT>TGT	p.R28C	RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA|RBM5_uc003cyf.2_Missense_Mutation_p.R28C|RBM5_uc011bdj.1_Silent_p.S5S|RBM5_uc011bdk.1_5'UTR	NM_005778	NP_005769	P52756	RBM5_HUMAN	RNA binding motif protein 5	28					apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCGTGATGAGCGTGAATCCCG	0.463													T	50129540	C	T	50129540	3	4	98	1	0	0	0	0	1	0	0	0	13143	768	27	1	88	1	RBM5	3	50129540	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	25735	50129540	147892890	318	64648											
SEMA3F	6405	broad.mit.edu	37	chr3	50211386	50211386	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaaccgcgagcccctcatTgtaagggctggccctgatgt	11	13	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:50211386T>C	uc003cyj.2	+	3	471	c.273T>C	c.(271-273)ATT>ATC	p.I91I	SEMA3F_uc003cyk.2_Silent_p.I91I	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	91	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		AGCCCCTCATTGTAAGGGCTG	0.627													C	50211386	T	C	50211386	2	2	98	1	0	0	0	0	0	0	0	1	14029	1826	63	3		3	SEMA3F	3	50211386	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	81846	50211386	147811044	319	64649											
SEMA3F	6405	broad.mit.edu	37	chr3	50220116	50220116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctcattcctgacagtgCggagcgcaatgatgataagc	12	9	1	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:50220116C>T	uc003cyj.2	+	9	1001	c.803C>T	c.(802-804)GCG>GTG	p.A268V	SEMA3F_uc003cyk.2_Missense_Mutation_p.A237V	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	268	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CCTGACAGTGCGGAGCGCAAT	0.617													T	50220116	C	T	50220116	3	4	98	1	0	0	0	0	1	0	0	0	14029	768	27	1	833	1	SEMA3F	3	50220116	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	8730	50220116	147802314	320	64650											
IFRD2	7866	broad.mit.edu	37	chr3	50328082	50328082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcatcgtcactggaaccCgagtcagcttgggcactgct	11	14	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:50328082C>T	uc011bdp.1	-	2	408	c.279G>A	c.(277-279)TCG>TCA	p.S93S	IFRD2_uc003czb.2_Silent_p.S195S	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	93							binding			lung(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CACTGGAACCCGAGTCAGCTT	0.617													T	50328082	C	T	50328082	2	4	98	1	0	0	0	0	0	0	0	1	7554	639	23	1		1	IFRD2	3	50328082	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	107966	50328082	147694348	321	64651											
CACNA2D2	9254	broad.mit.edu	37	chr3	50418437	50418437	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtacctacccgggtagtagCgagtgactcctgtggcgctg	15	11	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:50418437C>A	uc003daq.2	-	7	811	c.773G>T	c.(772-774)CGC>CTC	p.R258L	CACNA2D2_uc003dap.2_Missense_Mutation_p.R258L	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha	258	Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CGGGTAGTAGCGAGTGACTCC	0.622													A	50418437	C	A	50418437	3	1	98	1	0	0	0	0	1	0	0	0	2549	768	27	5	2817	5	CACNA2D2	3	50418437	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	90355	50418437	147603993	322	64652											
VPRBP	9730	broad.mit.edu	37	chr3	51464895	51464895	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgcacacaagaaagtttgAggaaaacttcagctggttcc	10	8	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:51464895A>G	uc003dbe.1	-	12	1943	c.1775T>C	c.(1774-1776)CTC>CCC	p.L592P		NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	592					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AGAAAGTTTGAGGAAAACTTC	0.403													G	51464895	A	G	51464895	3	3	98	1	0	0	0	0	1	0	0	0	17182	304	11	3	2800	3	VPRBP	3	51464895	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1046458	51464895	146557535	323	64653											
RAD54L2	23132	broad.mit.edu	37	chr3	51696671	51696671	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaacttatggacagcagTgctgttcccgggacagctct	11	13	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:51696671T>C	uc011bdt.1	+	22	3764	c.3639T>C	c.(3637-3639)AGT>AGC	p.S1213S	RAD54L2_uc003dbh.2_Silent_p.S802S|RAD54L2_uc011bdu.1_Silent_p.S907S|RAD54L2_uc003dbj.2_Silent_p.S539S	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	1213						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TGGACAGCAGTGCTGTTCCCG	0.627													C	51696671	T	C	51696671	2	2	98	1	0	0	0	0	0	0	0	1	12994	1693	59	3		3	RAD54L2	3	51696671	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	231776	51696671	146325759	324	64654											
DNAH1	25981	broad.mit.edu	37	chr3	52391683	52391683	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagcctgcgggactgcaaCaagattctggacctggtgca	13	11	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:52391683C>A	uc011bef.1	+	23	4173	c.3912C>A	c.(3910-3912)AAC>AAA	p.N1304K		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1304	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGACTGCAACAAGATTCTGG	0.617													A	52391683	C	A	52391683	3	1	98	1	0	0	0	0	1	0	0	0	4597	477	17	5	3998	5	DNAH1	3	52391683	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	695012	52391683	145630747	325	64655											
RFT1	91869	broad.mit.edu	37	chr3	53126558	53126558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggccaagatgaagcccaCgctgccacaccaacgggtca	11	14	1	2	rs145175244		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:53126558C>T	uc003dgj.2	-	12	1339	c.1285G>A	c.(1285-1287)GTG>ATG	p.V429M	RFT1_uc003dgk.2_Missense_Mutation_p.V390M	NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	RFT1 homolog	429	Helical; (Potential).				carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		ATGAAGCCCACGCTGCCACAC	0.552													T	53126558	C	T	53126558	3	4	98	1	0	0	0	0	1	0	0	0	13257	536	19	1	348	1	RFT1	3	53126558	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	734875	53126558	144895872	326	64656											
SLMAP	7871	broad.mit.edu	37	chr3	57847813	57847813	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatttatctgataaattaaaGgtatgtatttactctgcctg	7	5	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:57847813G>T	uc003dje.1	+	9	1171	c.966G>T	c.(964-966)AAG>AAT	p.K322N	SLMAP_uc003djc.1_Missense_Mutation_p.K322N|SLMAP_uc003djd.1_Missense_Mutation_p.K322N|SLMAP_uc003djf.1_Missense_Mutation_p.K322N|SLMAP_uc003djg.1_5'Flank	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	322	Potential.|Cytoplasmic (Potential).				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		ATAAATTAAAGGTATGTATTT	0.269													T	57847813	G	T	57847813	3	4	98	1	0	0	0	0	1	0	0	0	14749	1014	35	5	1000	5	SLMAP	3	57847813	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	4721255	57847813	140174617	327	64657											
FLNB	2317	broad.mit.edu	37	chr3	58089788	58089788	+	Frame_Shift_Del	DEL	G	G	-													atacagcattgccatcacatGggggggacaccacattccaa							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:58089787_58089787TG>T	uc003djj.2	+	9	1750	c.1585_1585TG>T	c.(1585-1587)tggfs	p.W529fs	FLNB_uc010hne.2_Frame_Shift_Del_p.W529fs|FLNB_uc003djk.2_Frame_Shift_Del_p.W529fs|FLNB_uc010hnf.2_Frame_Shift_Del_p.W529fs|FLNB_uc003djl.2_Frame_Shift_Del_p.W360fs|FLNB_uc003djm.2_Frame_Shift_Del_p.W360fs	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	529					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGCCATCACATGGGGGGGACA	0.592													-	58089788	G	-	58089788	7	5	98	1	0	1	0	1	0	0	0	0	5934	1357	47	0	1624	0	FLNB	3	58089788	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	241975	58089788	139932642	328	64658											
FEZF2	55079	broad.mit.edu	37	chr3	62357003	62357003	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gttgaacgctttgccgcactGgttgcatttatgtggctttt	11	8	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:62357003G>C	uc003dlh.2	-	3	1216	c.1009C>G	c.(1009-1011)CAG>GAG	p.Q337E	FEZF2_uc003dli.2_Missense_Mutation_p.Q337E	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	337	C2H2-type 3.				transcription, DNA-dependent	nucleus	zinc ion binding			lung(1)	1		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		TTGCCGCACTGGTTGCATTTA	0.587													C	62357003	G	C	62357003	3	2	98	1	0	0	0	0	1	0	0	0	5826	1357	47	5	378	5	FEZF2	3	62357003	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	4267215	62357003	135665427	329	64659											
FEZF2	55079	broad.mit.edu	37	chr3	62358211	62358211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccccgccgccgccgccGccaccgccgccgccgcctcc	10	29	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:62358211G>A	uc003dlh.2	-	1	540	c.333C>T	c.(331-333)GGC>GGT	p.G111G	FEZF2_uc003dli.2_Silent_p.G111G	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	111	Gly-rich.				transcription, DNA-dependent	nucleus	zinc ion binding			lung(1)	1		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		cgccgccgccgccaccgccgc	0.522													A	62358211	G	A	62358211	2	1	98	1	0	0	0	0	0	0	0	1	5826	1074	38	1		1	FEZF2	3	62358211	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1208	62358211	135664219	330	64660											
PRICKLE2	166336	broad.mit.edu	37	chr3	64142957	64142957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattgcagacagtgcataCgaagcacggcgggtgccagc	13	12	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:64142957C>T	uc003dmf.2	-	5	1067	c.481G>A	c.(481-483)GTA>ATA	p.V161I		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	161	LIM zinc-binding 1.					cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ACAGTGCATACGAAGCACGGC	0.567													T	64142957	C	T	64142957	3	4	98	1	0	0	0	0	1	0	0	0	12487	536	19	1	2069	1	PRICKLE2	3	64142957	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1784746	64142957	133879473	331	64661											
ADAMTS9	56999	broad.mit.edu	37	chr3	64527285	64527286	+	Frame_Shift_Ins	INS	-	-	G													tttacctccttgcaattctgINSgggtaactcacctagaaaac							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:64527284_64527285T>TG	uc003dmg.3	-	33	5241_5242	c.5209_5210A>CA	c.(5209-5211)cagfs	p.Q1737fs	ADAMTS9_uc011bfo.2_Frame_Shift_Ins_p.Q1709fs|ADAMTS9_uc011bfp.1_Frame_Shift_Ins_p.Q648fs	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1737	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTTGCAATTCTGGGGTAACTCA	0.396													G	64527286	-	G	64527285	7	5	98	1	0	1	1	0	0	0	0	0	273	1357	47	0	622	0	ADAMTS9	3	64527285	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	384328	64527285	133495145	332	64662											
ADAMTS9	56999	broad.mit.edu	37	chr3	64532624	64532624	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agccttttccacaggtcactGagcactgcaaagacagggat	10	11	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:64532624G>A	uc003dmg.2	-	32	4906	c.4874C>T	c.(4873-4875)TCA>TTA	p.S1625L	ADAMTS9_uc011bfo.1_Missense_Mutation_p.S1597L|ADAMTS9_uc011bfp.1_Missense_Mutation_p.S536L	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1625	TSP type-1 14.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACAGGTCACTGAGCACTGCAA	0.532													A	64532624	G	A	64532624	3	1	98	1	0	0	0	0	1	0	0	0	273	1294	45	4	965	4	ADAMTS9	3	64532624	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	5339	64532624	133489806	333	64663											
CNTN3	5067	broad.mit.edu	37	chr3	74315771	74315771	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtgttcagtacttgtacGttattttgactgctagtcct	8	7	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:74315771G>A	uc003dpm.1	-	21	2927	c.2847C>T	c.(2845-2847)AAC>AAT	p.N949N		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	949	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GTACTTGTACGTTATTTTGAC	0.358													A	74315771	G	A	74315771	2	1	98	1	0	0	0	0	0	0	0	1	3642	1136	40	1		1	CNTN3	3	74315771	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	9783147	74315771	123706659	334	64664											
ROBO2	6092	broad.mit.edu	37	chr3	77607297	77607297	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acactgcagattaagaatttAcgggtaagtaatattggact	9	5	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:77607297A>G	uc003dpy.3	+	9	2077	c.1434A>G	c.(1432-1434)TTA>TTG	p.L478L	ROBO2_uc003dpz.2_Silent_p.L482L|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.L482L	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	478	Ig-like C2-type 5.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTAAGAATTTACGGGTAAGTA	0.363													G	77607297	A	G	77607297	2	3	98	1	0	0	0	0	0	0	0	1	13514	388	14	3		3	ROBO2	3	77607297	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	3291526	77607297	120415133	335	64665											
CADM2	253559	broad.mit.edu	37	chr3	85961603	85961603	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggacttccgagtggaccggAgtgatgatggagtggcggtc	18	7	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:85961603A>T	uc003dqj.2	+	5	1209	c.583A>T	c.(583-585)AGT>TGT	p.S195C	CADM2_uc003dqk.2_Missense_Mutation_p.S204C|CADM2_uc003dql.2_Missense_Mutation_p.S197C	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D	195	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AGTGGACCGGAGTGATGATGG	0.438													T	85961603	A	T	85961603	3	4	98	1	0	0	0	0	1	0	0	0	2567	304	11	5	672	5	CADM2	3	85961603	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	8354306	85961603	112060827	336	64666											
ZNF654	55279	broad.mit.edu	37	chr3	88189154	88189154	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaccgatttaaatgtgcgaCaaacagtaatgaagtggagc	10	7	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:88189154C>T	uc003dqv.2	+	1	893	c.694C>T	c.(694-696)CAA>TAA	p.Q232*	CGGBP1_uc003dqu.2_Intron	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AAATGTGCGACAAACAGTAAT	0.358													T	88189154	C	T	88189154	4	4	98	1	0	0	0	0	0	1	0	0	18064	479	17	4	696	4	ZNF654	3	88189154	Nonsense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2227551	88189154	109833276	337	64667											
EPHA3	2042	broad.mit.edu	37	chr3	89259454	89259454	+	Frame_Shift_Del	DEL	A	A	-													tgtctgtgagagtatacttcAaaaagtgcccatttacagtg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:89259453_89259453CA>C	uc003dqy.3	+	2	822	c.597_597CA>C	c.(595-597)ttcfs	p.F199fs	EPHA3_uc003dqx.1_Frame_Shift_Del_p.F199fs|EPHA3_uc021xbf.1_Frame_Shift_Del_p.F199fs	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	199	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GAGTATACTTCAAAAAGTGCC	0.453										TSP Lung(6;0.00050)			-	89259454	A	-	89259454	7	5	98	1	0	1	0	1	0	0	0	0	5168	131	5	0	608	0	EPHA3	3	89259454	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	1070300	89259454	108762976	338	64668											
CRYBG3	131544	broad.mit.edu	37	chr3	97661233	97661233	+	Frame_Shift_Del	DEL	A	A	-													ggcagaagtggagactgaatAaaaatggaactatcagctct							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:97661232_97661232TA>T	uc003drx.3	+	17	2989	c.2925_2925TA>T	c.(2923-2925)aatfs	p.N975fs	CRYBG3_uc021xbn.1_Frame_Shift_Del_p.N975fs|MINA_uc003dsa.1_3'UTR|MINA_uc003drz.1_3'UTR|MINA_uc003dsb.1_3'UTR|MINA_uc003dsc.1_3'UTR					RecName: Full=Beta/gamma crystallin domain-containing protein 3;											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GGAGACTGAATAAAAATGGAA	0.438													-	97661233	A	-	97661233	7	5	98	1	0	1	0	1	0	0	0	0	3913	363	13	0	2996	0	CRYBG3	3	97661233	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	8401779	97661233	100361197	339	64669											
GPR15	2838	broad.mit.edu	37	chr3	98251363	98251363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatctggtttatctcctgCctgctggggttgcctactct	10	12	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:98251363C>T	uc011bgy.1	+	1	486	c.486C>T	c.(484-486)TGC>TGT	p.C162C		NM_005290	NP_005281	P49685	GPR15_HUMAN	G protein-coupled receptor 15	162	Helical; Name=4; (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TTATCTCCTGCCTGCTGGGGT	0.488													T	98251363	C	T	98251363	2	4	98	1	0	0	0	0	0	0	0	1	6655	747	26	2		2	GPR15	3	98251363	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	590130	98251363	99771067	340	64670											
FILIP1L	11259	broad.mit.edu	37	chr3	99567357	99567357	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttattatcctcagtagttaTcacacttgagctattgctgt	6	8	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:99567357T>C	uc003dtm.2	-	5	3626	c.3163A>G	c.(3163-3165)ATA>GTA	p.I1055V	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.I1055V|FILIP1L_uc010hpf.2_Missense_Mutation_p.I631V|FILIP1L_uc010hpg.2_Missense_Mutation_p.I815V|FILIP1L_uc003dtn.2_Missense_Mutation_p.I815V|FILIP1L_uc003dtp.1_Missense_Mutation_p.I815V	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	1055						cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						TCAGTAGTTATCACACTTGAG	0.483													C	99567357	T	C	99567357	3	2	98	1	0	0	0	0	1	0	0	0	5895	1435	50	3	273	3	FILIP1L	3	99567357	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1315994	99567357	98455073	341	64671											
ABI3BP	25890	broad.mit.edu	37	chr3	100617729	100617729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagaggtttgcgagaaCgagttttacctgtggaggtg	16	6	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:100617729C>T	uc003dun.2	-	4	444	c.359G>A	c.(358-360)CGT>CAT	p.R120H	ABI3BP_uc003duo.2_Missense_Mutation_p.R113H|ABI3BP_uc003dup.3_Missense_Mutation_p.R113H	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	120	Fibronectin type-III 1.					extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						TTTGCGAGAACGAGTTTTACC	0.478													T	100617729	C	T	100617729	3	4	98	1	0	0	0	0	1	0	0	0	91	536	19	1	2996	1	ABI3BP	3	100617729	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1050372	100617729	97404701	342	64672											
DZIP3	9666	broad.mit.edu	37	chr3	108380774	108380774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaactgaaaaggaaagGcttgctcgtcaaaggcagct	13	7	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:108380774G>A	uc003dxd.2	+	20	2672	c.2250G>A	c.(2248-2250)AGG>AGA	p.R750R	DZIP3_uc003dxf.1_Silent_p.R750R|DZIP3_uc011bhm.1_Silent_p.R201R	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	750					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						AAAAGGAAAGGCTTGCTCGTC	0.343													A	108380774	G	A	108380774	2	1	98	1	0	0	0	0	0	0	0	1	4865	1194	42	2		2	DZIP3	3	108380774	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	7763045	108380774	89641656	343	64673											
BTLA	151888	broad.mit.edu	37	chr3	112198429	112198429	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgaaaaatgaaatgttcttCtcttccttccaacttgtttg	5	8	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:112198429C>T	uc003dza.3	-	2	479	c.276G>A	c.(274-276)GAG>GAA	p.E92E	BTLA_uc003dzb.3_Silent_p.E92E	NM_181780	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated isoform 1	92	Ig-like V-type.|Extracellular (Potential).				T cell costimulation		receptor activity				0		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				AAATGTTCTTCTCTTCCTTCC	0.378													T	112198429	C	T	112198429	2	4	98	1	0	0	0	0	0	0	0	1	1558	912	32	4		4	BTLA	3	112198429	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3817655	112198429	85824001	344	64674											
SIDT1	54847	broad.mit.edu	37	chr3	113286534	113286534	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtacaaactgctagttacCaagctgaagcacttccagct	7	12	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:113286534C>A	uc003eak.2	+	3	1143	c.492C>A	c.(490-492)ACC>ACA	p.T164T	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Silent_p.T164T|SIDT1_uc011big.1_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	164	Extracellular (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						TGCTAGTTACCAAGCTGAAGC	0.498													A	113286534	C	A	113286534	2	1	98	1	0	0	0	0	0	0	0	1	14302	581	21	5		5	SIDT1	3	113286534	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1088105	113286534	84735896	345	64675											
ZBTB20	26137	broad.mit.edu	37	chr3	114057923	114057923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaactttgctgggcagaCggagcagacgtaagtggtcc	14	9	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:114057923C>T	uc003ebi.2	-	5	2335	c.2155G>A	c.(2155-2157)GTC>ATC	p.V719I	ZBTB20_uc003ebj.2_Missense_Mutation_p.V646I|ZBTB20_uc010hqp.2_Missense_Mutation_p.V646I|ZBTB20_uc003ebk.2_Missense_Mutation_p.V646I|ZBTB20_uc003ebl.2_Missense_Mutation_p.V646I|ZBTB20_uc003ebm.2_Missense_Mutation_p.V646I|ZBTB20_uc003ebn.2_Missense_Mutation_p.V646I	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	719	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCTGGGCAGACGGAGCAGACG	0.582													T	114057923	C	T	114057923	3	4	98	1	0	0	0	0	1	0	0	0	17526	536	19	1	74	1	ZBTB20	3	114057923	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	771389	114057923	83964507	346	64676											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-													cacctgggggtgtgcctgcaGggggggtcccattgctggca							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:114058002_114058002AG>A	uc003ebi.3	-	4	2256	c.2076_2076CT>T	c.(2074-2076)cctfs	p.P692fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P619fs	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGTGCCTGCAGGGGGGGTCC	0.632													-	114058003	G	-	114058003	7	5	98	1	0	1	0	1	0	0	0	0	17526	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	80	114058003	83964427	347	64677											
ZBTB20	26137	broad.mit.edu	37	chr3	114069414	114069414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctggcaggtaggtgttgCcagctgtgccaatgacctgc	16	10	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:114069414C>T	uc003ebi.2	-	4	1691	c.1511G>A	c.(1510-1512)GGC>GAC	p.G504D	ZBTB20_uc003ebj.2_Missense_Mutation_p.G431D|ZBTB20_uc010hqp.2_Missense_Mutation_p.G431D|ZBTB20_uc003ebk.2_Missense_Mutation_p.G431D|ZBTB20_uc003ebl.2_Missense_Mutation_p.G431D|ZBTB20_uc003ebm.2_Missense_Mutation_p.G431D|ZBTB20_uc003ebn.2_Missense_Mutation_p.G431D|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTAGGTGTTGCCAGCTGTGCC	0.617													T	114069414	C	T	114069414	3	4	98	1	0	0	0	0	1	0	0	0	17526	739	26	2	722	2	ZBTB20	3	114069414	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	11411	114069414	83953016	348	64678											
ZBTB20	26137	broad.mit.edu	37	chr3	114070435	114070435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttccgactgcgagacccGtagcacgccgctgtacatga	11	14	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:114070435G>A	uc003ebi.2	-	4	670	c.490C>T	c.(490-492)CGG>TGG	p.R164W	ZBTB20_uc003ebj.2_Missense_Mutation_p.R91W|ZBTB20_uc010hqp.2_Missense_Mutation_p.R91W|ZBTB20_uc003ebk.2_Missense_Mutation_p.R91W|ZBTB20_uc003ebl.2_Missense_Mutation_p.R91W|ZBTB20_uc003ebm.2_Missense_Mutation_p.R91W|ZBTB20_uc003ebn.2_Missense_Mutation_p.R91W|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	164	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGCGAGACCCGTAGCACGCCG	0.567													A	114070435	G	A	114070435	3	1	98	1	0	0	0	0	1	0	0	0	17526	1144	40	1	1743	1	ZBTB20	3	114070435	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1021	114070435	83951995	349	64679											
ARHGAP31	57514	broad.mit.edu	37	chr3	119121032	119121032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagatggagccctcgccgcGtaaccagcgcaaggcgctga	13	15	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:119121032G>A	uc003ecj.3	+	10	1965	c.1433G>A	c.(1432-1434)CGT>CAT	p.R478H		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	478					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						CCCTCGCCGCGTAACCAGCGC	0.582													A	119121032	G	A	119121032	3	1	98	1	0	0	0	0	1	0	0	0	880	1145	40	1	1471	1	ARHGAP31	3	119121032	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	5050597	119121032	78901398	350	64680											
GPR156	165829	broad.mit.edu	37	chr3	119887227	119887227	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggctttcaatcacagcaTttttctgtaaaataaaagca	6	8	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:119887227T>C	uc011bjf.1	-	9	1097	c.1097A>G	c.(1096-1098)AAT>AGT	p.N366S	GPR156_uc011bjg.1_Missense_Mutation_p.N362S	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	366	Cytoplasmic (Potential).|Potential.					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.19)		AATCACAGCATTTTTCTGTAA	0.478													C	119887227	T	C	119887227	3	2	98	1	0	0	0	0	1	0	0	0	6661	1493	52	3	1351	3	GPR156	3	119887227	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	766195	119887227	78135203	351	64681											
NDUFB4	4710	broad.mit.edu	37	chr3	120320066	120320066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctctgtgtggatttgggCccctcatcttcatttattat	9	9	4	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:120320066C>T	uc003edu.2	+	2	368	c.289C>T	c.(289-291)CCC>TCC	p.P97S	NDUFB4_uc003edt.2_Missense_Mutation_p.P97S	NM_004547	NP_004538	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	97	Helical; (Potential).				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	TGGATTTGGGCCCCTCATCTT	0.413													T	120320066	C	T	120320066	3	4	98	1	0	0	0	0	1	0	0	0	10283	739	26	2	295	2	NDUFB4	3	120320066	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	432839	120320066	77702364	352	64682											
HCLS1	3059	broad.mit.edu	37	chr3	121356016	121356016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgggactcgtgtttctccGtctctcccttgtagtcatat	8	12	4	0	rs144275149	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:121356016G>A	uc003eeh.3	-	7	667	c.542C>T	c.(541-543)ACG>ATG	p.T181M	HCLS1_uc011bjj.1_Intron|HCLS1_uc011bjk.1_RNA	NM_005335	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	181	Cortactin 3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(114;0.0912)		GTGTTTCTCCGTCTCTCCCTT	0.552													A	121356016	G	A	121356016	3	1	98	1	0	0	0	0	1	0	0	0	6995	1145	40	1	950	1	HCLS1	3	121356016	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1035950	121356016	76666414	353	64683											
EAF2	55840	broad.mit.edu	37	chr3	121573659	121573659	+	Frame_Shift_Del	DEL	A	A	-													ctcagcagcaacatcactgtAaaaaaaacaaggtatgtggt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:121573658_121573658TA>T	uc003een.3	+	2	425	c.326_326TA>T	c.(325-327)gtafs	p.V109fs	EAF2_uc003eeo.3_Intron	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	109					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		AACATCACTGTAAAAAAAACA	0.249													-	121573659	A	-	121573659	7	5	98	1	0	1	0	1	0	0	0	0	4876	349	13	0	337	0	EAF2	3	121573659	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	217643	121573659	76448771	354	64684											
ADCY5	111	broad.mit.edu	37	chr3	123046525	123046525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgctccttgaggtaggcGttgcgctcgcccccacagcc	12	16	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:123046525G>A	uc003egh.1	-	7	1887	c.1887C>T	c.(1885-1887)AAC>AAT	p.N629N	ADCY5_uc003egg.1_Silent_p.N262N|ADCY5_uc003egi.1_Silent_p.N188N	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	629	Cytoplasmic (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		TGAGGTAGGCGTTGCGCTCGC	0.642													A	123046525	G	A	123046525	2	1	98	1	0	0	0	0	0	0	0	1	297	1136	40	1		1	ADCY5	3	123046525	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1472866	123046525	74975905	355	64685											
ADCY5	111	broad.mit.edu	37	chr3	123049848	123049848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccccaaggatcttaatacGtaaacagtgattctcctgga	7	10	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:123049848G>A	uc003egh.1	-	5	1534	c.1534C>T	c.(1534-1536)CGT>TGT	p.R512C	ADCY5_uc003egg.1_Missense_Mutation_p.R145C|ADCY5_uc003egi.1_Missense_Mutation_p.R71C	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	512	Guanylate cyclase 1.|Cytoplasmic (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		ATCTTAATACGTAAACAGTGA	0.443													A	123049848	G	A	123049848	3	1	98	1	0	0	0	0	1	0	0	0	297	1145	40	1	2319	1	ADCY5	3	123049848	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3323	123049848	74972582	356	64686											
KALRN	8997	broad.mit.edu	37	chr3	124351480	124351480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaaagttcgcgatggtcGgaagagctttgacctgggat	15	6	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:124351480G>A	uc003ehg.2	+	35	5517	c.5390G>A	c.(5389-5391)CGG>CAG	p.R1797Q	KALRN_uc003ehi.2_Missense_Mutation_p.R170Q|KALRN_uc003ehk.2_Missense_Mutation_p.R100Q|KALRN_uc003ehj.2_Missense_Mutation_p.R100Q	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1797					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						CGCGATGGTCGGAAGAGCTTT	0.537													A	124351480	G	A	124351480	3	1	98	1	0	0	0	0	1	0	0	0	7975	1116	39	1	5684	1	KALRN	3	124351480	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1301632	124351480	73670950	357	64687											
KALRN	8997	broad.mit.edu	37	chr3	124436192	124436192	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacatcatggaggctctgcAgtaccttcacaactgcaggg	11	11	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:124436192A>G	uc003ehg.2	+	59	8502	c.8375A>G	c.(8374-8376)CAG>CGG	p.Q2792R	KALRN_uc003ehk.2_Missense_Mutation_p.Q1095R	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2791	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GAGGCTCTGCAGTACCTTCAC	0.353													G	124436192	A	G	124436192	3	3	98	1	0	0	0	0	1	0	0	0	7975	188	7	3	8765	3	KALRN	3	124436192	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	84712	124436192	73586238	358	64688											
HEG1	57493	broad.mit.edu	37	chr3	124731960	124731961	+	Frame_Shift_Del	DEL	CT	CT	-													agggtttgctctgtggaggaCtctgttaaggatggaggcaa							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:124731959_124731960ACT>A	uc011bke.2	-	6	2831_2832	c.2763_2764AGT>T	c.(2761-2766)gagtccfs	p.E921fs	HEG1_uc003ehs.4_Frame_Shift_Del_p.E821fs	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	821						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TCTGTGGAGGACTCTGTTAAGG	0.47													-	124731961	CT	-	124731960	7	5	98	1	0	1	0	1	0	0	0	0	7044	564	20	0	1730	0	HEG1	3	124731960	Frame_Shift_Del	DEL	CT	TCGA-BR-8591-01A-11D-2394-08	295768	124731960	73290470	359	64689											
ALG1L	200810	broad.mit.edu	37	chr3	125648342	125648342	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcccatcggagctgctgCgactcccgcaggttcttcca	9	16	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:125648342C>T	uc003eig.1	-	6	581	c.417G>A	c.(415-417)TCG>TCA	p.S139S	LOC100125556_uc003eif.3_RNA|LOC100125556_uc003eid.3_RNA|LOC100125556_uc003eie.3_RNA	NM_001015050	NP_001015050	Q6GMV1	ALG1L_HUMAN	asparagine-linked glycosylation 1-like	139							transferase activity, transferring glycosyl groups				0						GGAGCTGCTGCGACTCCCGCA	0.517													T	125648342	C	T	125648342	2	4	98	1	0	0	0	0	0	0	0	1	517	755	27	1		1	ALG1L	3	125648342	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	916382	125648342	72374088	360	64690											
ZXDC	79364	broad.mit.edu	37	chr3	126194497	126194497	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaccaagaaagagtcgccgTcgctgtcgtcctcggcgggc	14	14	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:126194497T>A	uc003eiv.2	-	1	266	c.212A>T	c.(211-213)GAC>GTC	p.D71V	ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Missense_Mutation_p.D71V	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C isoform 1	71					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.155)		AGAGTCGCCGTCGCTGTCGTC	0.468													A	126194497	T	A	126194497	3	1	98	1	0	0	0	0	1	0	0	0	18249	1667	58	5	2410	5	ZXDC	3	126194497	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	546155	126194497	71827933	361	64691											
CHST13	166012	broad.mit.edu	37	chr3	126261102	126261102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctacctgctggacccgcGcacgcggcgtgaggagccct	15	16	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:126261102G>A	uc003eja.2	+	3	707	c.707G>A	c.(706-708)CGC>CAC	p.R236H		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	carbohydrate sulfotransferase 13	236	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.151)		CTGGACCCGCGCACGCGGCGT	0.562													A	126261102	G	A	126261102	3	1	98	1	0	0	0	0	1	0	0	0	3401	1087	38	1	717	1	CHST13	3	126261102	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	66605	126261102	71761328	362	64692											
PLXNA1	5361	broad.mit.edu	37	chr3	126724067	126724067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccgcccgggaggtggcGcccatcacgcggggccaggg	17	17	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:126724067G>A	uc003ejg.2	+	6	1813	c.1809G>A	c.(1807-1809)GCG>GCA	p.A603A		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	626	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		GGGAGGTGGCGCCCATCACGC	0.672													A	126724067	G	A	126724067	2	1	98	1	0	0	0	0	0	0	0	1	12119	1074	38	1		1	PLXNA1	3	126724067	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	462965	126724067	71298363	363	64693											
PLXNA1	5361	broad.mit.edu	37	chr3	126735391	126735391	+	Frame_Shift_Del	DEL	C	C	-													gtgagatccggtgcctgacaCcccccgggcagagccctggc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:126735391delC	uc003ejg.2	+	15	2981	c.2977delC	c.(2977-2979)CCCfs	p.P993fs		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1016	IPT/TIG 2.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		GTGCCTGACACCCCCCGGGCA	0.627													-	126735391	C	-	126735391	7	5	98	1	0	1	0	1	0	0	0	0	12119	507	18	0	3104	0	PLXNA1	3	126735391	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	11324	126735391	71287039	364	64694											
PODXL2	50512	broad.mit.edu	37	chr3	127379415	127379417	+	In_Frame_Del	DEL	GAG	GAG	-													aggaagaggtagagaaacaaGaggaggaggaagaggaggag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:127379414_127379416AGAG>A	uc003ejq.2	+	2	567_569	c.543_545AGAG>A	c.(541-546)caagag>caAg	p.E188del		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	Homo sapiens podocalyxin-like 2 (PODXL2), mRNA.	188	Glu-rich.				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						tagagaaacaagaggaggaggaa	0.547													-	127379417	GAG	-	127379415	7	5	98	1	0	1	0	1	0	0	0	0	12181	943	33	0	554	0	PODXL2	3	127379415	In_Frame_Del	DEL	GAG	TCGA-BR-8591-01A-11D-2394-08	644024	127379415	70643015	365	64695											
PODXL2	50512	broad.mit.edu	37	chr3	127379825	127379825	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacagctcccagtggggcCgagcacccagatgaagatcc	11	15	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:127379825C>T	uc003ejq.2	+	3	978	c.954C>T	c.(952-954)GCC>GCT	p.A318A		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2 precursor	318	Extracellular (Potential).				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			ovary(1)|central_nervous_system(1)	2						CCAGTGGGGCCGAGCACCCAG	0.607													T	127379825	C	T	127379825	2	4	98	1	0	0	0	0	0	0	0	1	12181	639	23	1		1	PODXL2	3	127379825	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	410	127379825	70642605	366	64696											
PLXND1	23129	broad.mit.edu	37	chr3	129284805	129284805	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtgcttgttgttgagtAgtgaggagaacaagctaatt	14	3	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:129284805A>G	uc003emx.2	-	24	4347	c.4247T>C	c.(4246-4248)CTA>CCA	p.L1416P	PLXND1_uc011blb.1_Missense_Mutation_p.L84P	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1416	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						GTTGTTGAGTAGTGAGGAGAA	0.572													G	129284805	A	G	129284805	3	3	98	1	0	0	0	0	1	0	0	0	12127	420	15	3	1582	3	PLXND1	3	129284805	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1904980	129284805	68737625	367	64697											
PLXND1	23129	broad.mit.edu	37	chr3	129303235	129303236	+	Frame_Shift_Ins	INS	-	-	G													cagcgtgcttaccctggttgINSggggggaagggcggaaactg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:129303234_129303235T>TG	uc003emx.2	-	5	2122_2123	c.2022_2023A>CA	c.(2020-2025)cccaacfs	p.P674fs		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	674					axon guidance	integral to membrane|intracellular|plasma membrane		p.N675fs*8(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TTACCCTGGTTGGGGGGGAAGG	0.639													G	129303236	-	G	129303235	7	5	98	1	0	1	1	0	0	0	0	0	12127	1335	47	0	3879	0	PLXND1	3	129303235	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	18430	129303235	68719195	368	64698											
COL6A6	131873	broad.mit.edu	37	chr3	130284257	130284257	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctccgacgggagggtgtgAccatcttcaccctgggcata	12	13	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:130284257A>G	uc010htl.2	+	3	1112	c.1081A>G	c.(1081-1083)ACC>GCC	p.T361A		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	361	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GGAGGGTGTGACCATCTTCAC	0.562													G	130284257	A	G	130284257	3	3	98	1	0	0	0	0	1	0	0	0	3703	275	10	3	1091	3	COL6A6	3	130284257	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	981022	130284257	67738173	369	64699											
ACPP	55	broad.mit.edu	37	chr3	132036365	132036365	+	Frame_Shift_Del	DEL	T	T	-													ccttggcttcttgtttctgcTttttttctggctagaccgaa							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:132036364_132036364CT>C	uc010htp.2	+	0	154	c.64_64CT>C	c.(64-66)cttfs	p.L22fs	ACPP_uc003eon.3_Frame_Shift_Del_p.L22fs|ACPP_uc003eop.4_Frame_Shift_Del_p.L22fs	NM_001099	NP_001090	P15309	PPAP_HUMAN	Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA.	22				SLGFLFLLFF -> AFASCFCFFC (in Ref. 5; CAA37673).|SLGFLFLLFF -> ALASCFCFFC (in Ref. 3; AAA60022 and 4; CAA36422).		extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CTTGTTTCTGCTTTTTTTCTG	0.473													-	132036365	T	-	132036365	7	5	98	1	0	1	0	1	0	0	0	0	167	1609	56	0	67	0	ACPP	3	132036365	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	1752108	132036365	65986065	370	64700											
C3orf36	80111	broad.mit.edu	37	chr3	133647277	133647277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagggaggggatagagcagCggccaccacctctccctgag	15	12	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:133647277C>T	uc003epz.1	-	1	1380	c.371G>A	c.(370-372)CGC>CAC	p.R124H		NM_025041	NP_079317	Q3SXR2	CC036_HUMAN	hypothetical protein LOC80111	124										ovary(1)	1						GATAGAGCAGCGGCCACCACC	0.612													T	133647277	C	T	133647277	3	4	98	1	0	0	0	0	1	0	0	0	2226	768	27	1	130	1	C3orf36	3	133647277	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1610912	133647277	64375153	371	64701											
AMOTL2	51421	broad.mit.edu	37	chr3	134079021	134079022	+	Frame_Shift_Ins	INS	-	-	G													ctgctgctgggtgagggctgINSgggggaatgtcggatgagag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:134079020_134079021T>TG	uc003eqf.2	-	6	2101_2102	c.1984_1985A>CA	c.(1984-1986)cagfs	p.Q662fs	AMOTL2_uc003eqg.1_Frame_Shift_Ins_p.Q604fs|AMOTL2_uc003eqh.1_Frame_Shift_Ins_p.Q602fs|AMOTL2_uc003eqe.1_Frame_Shift_Ins_p.Q229fs	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	604										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGGTGAGGGCTGGGGGGAATGT	0.599													G	134079022	-	G	134079021	7	5	98	1	0	1	1	0	0	0	0	0	584	1357	47	0	548	0	AMOTL2	3	134079021	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	431744	134079021	63943409	372	64702											
MSL2	55167	broad.mit.edu	37	chr3	135870724	135870724	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctattcaattttgctatcttCggagttgctgctgtacatga	8	8	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:135870724C>T	uc003eqx.1	-	2	1732	c.999G>A	c.(997-999)CCG>CCA	p.P333P	MSL2_uc011bmb.1_Silent_p.P259P	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	333					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						TTGCTATCTTCGGAGTTGCTG	0.438													T	135870724	C	T	135870724	2	4	98	1	0	0	0	0	0	0	0	1	9878	871	31	1		1	MSL2	3	135870724	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1791703	135870724	62151706	373	64703											
PRR23B	389151	broad.mit.edu	37	chr3	138739311	138739311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacgcagggcacagcccgCggccaggaccactatggagg	14	15	0	0	rs149871263		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:138739311C>T	uc003esy.1	-	1	458	c.193G>A	c.(193-195)GCG>ACG	p.A65T		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	proline rich 23B	65										breast(1)	1						GCACAGCCCGCGGCCAGGACC	0.726													T	138739311	C	T	138739311	3	4	98	1	0	0	0	0	1	0	0	0	12595	768	27	1	608	1	PRR23B	3	138739311	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2868587	138739311	59283119	374	64704											
CLSTN2	64084	broad.mit.edu	37	chr3	140282845	140282845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcatcatcatctccgtgtGcatgcttgtgtttgtcgtgg	12	9	4	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:140282845G>A	uc003etn.2	+	16	2715	c.2525G>A	c.(2524-2526)TGC>TAC	p.C842Y		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	842	Helical; (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						ATCTCCGTGTGCATGCTTGTG	0.532										HNSCC(16;0.037)			A	140282845	G	A	140282845	3	1	98	1	0	0	0	0	1	0	0	0	3562	1319	46	2	2587	2	CLSTN2	3	140282845	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1543534	140282845	57739585	375	64705											
XRN1	54464	broad.mit.edu	37	chr3	142075828	142075828	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggaaactgatgaacttgAgctatgttgatgtacagctg	12	5	0	5			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:142075828A>G	uc003eus.2	-	31	3665	c.3598T>C	c.(3598-3600)TCA>CCA	p.S1200P	XRN1_uc010huu.2_Missense_Mutation_p.S666P|XRN1_uc003eut.2_Missense_Mutation_p.S1200P|XRN1_uc003euu.2_Missense_Mutation_p.S1200P	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	1200					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						GATGAACTTGAGCTATGTTGA	0.448													G	142075828	A	G	142075828	3	3	98	1	0	0	0	0	1	0	0	0	17456	304	11	3	1570	3	XRN1	3	142075828	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1792983	142075828	55946602	376	64706											
TRPC1	7220	broad.mit.edu	37	chr3	142443499	142443499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgccgaacgaggtgatggCgctgaaggatgtgcgggagg	19	8	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:142443499C>T	uc003evc.2	+	1	234	c.98C>T	c.(97-99)GCG>GTG	p.A33V	TRPC1_uc003evb.2_Missense_Mutation_p.A33V	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	33	Cytoplasmic (Potential).				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						GAGGTGATGGCGCTGAAGGAT	0.483													T	142443499	C	T	142443499	3	4	98	1	0	0	0	0	1	0	0	0	16575	768	27	1	100	1	TRPC1	3	142443499	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	367671	142443499	55578931	377	64707											
ZIC4	84107	broad.mit.edu	37	chr3	147113965	147113965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcctgtttgatgggctggCgcatgtagcggaagaaagcg	16	8	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:147113965C>T	uc003ewd.1	-	3	635	c.362G>A	c.(361-363)CGC>CAC	p.R121H	ZIC4_uc003ewc.1_Missense_Mutation_p.R51H|ZIC4_uc011bno.1_Missense_Mutation_p.R171H	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	121						nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						GATGGGCTGGCGCATGTAGCG	0.657													T	147113965	C	T	147113965	3	4	98	1	0	0	0	0	1	0	0	0	17678	768	27	1	654	1	ZIC4	3	147113965	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	4670466	147113965	50908465	378	64708											
C3orf33	285315	broad.mit.edu	37	chr3	155485443	155485443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccaacttaaccagcaaaGcaccacgtggctcttctaaa	6	14	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:155485443G>A	uc003fal.1	-	5	479	c.209C>T	c.(208-210)GCT>GTT	p.A70V	C3orf33_uc003fam.1_Missense_Mutation_p.A113V	NM_173657	NP_775928	Q96NB5	Q96NB5_HUMAN	hypothetical protein LOC285315	70							hydrolase activity, acting on ester bonds|nucleic acid binding				0			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACCAGCAAAGCACCACGTGG	0.418													A	155485443	G	A	155485443	3	1	98	1	0	0	0	0	1	0	0	0	2223	971	34	2	554	2	C3orf33	3	155485443	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	8371478	155485443	42536987	379	64709											
GFM1	85476	broad.mit.edu	37	chr3	158363985	158363985	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatggagttggtgctgtcaTggattccatggaactagaga	14	5	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:158363985T>C	uc003fce.2	+	3	373	c.266T>C	c.(265-267)ATG>ACG	p.M89T	GFM1_uc003fcd.2_Missense_Mutation_p.M89T|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Missense_Mutation_p.M1T	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1 precursor	89					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GGTGCTGTCATGGATTCCATG	0.403													C	158363985	T	C	158363985	3	2	98	1	0	0	0	0	1	0	0	0	6341	1464	51	3	276	3	GFM1	3	158363985	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	2878542	158363985	39658445	380	64710											
SI	6476	broad.mit.edu	37	chr3	164781250	164781250	+	Frame_Shift_Del	DEL	A	A	-													ccattgcattgctattcattAaaaaaacaccgaatgacttt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:164781249_164781249TA>T	uc003fei.3	-	7	951	c.888_888TA>A	c.(886-888)ttafs	p.L296fs		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	296	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.L296fs*4(2)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGCTATTCATTAAAAAAACAC	0.259										HNSCC(35;0.089)			-	164781250	A	-	164781250	7	5	98	1	0	1	0	1	0	0	0	0	14297	372	13	0	4760	0	SI	3	164781250	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	6417265	164781250	33241180	381	64711											
BCHE	590	broad.mit.edu	37	chr3	165547558	165547560	+	In_Frame_Del	DEL	CAA	CAA	-													gcatatgaaattataatcccCaacaacatcacccaaggcct							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:165547557_165547559CCAA>C	uc003fem.4	-	1	1423_1425	c.1263_1265TTGG>G	c.(1261-1266)gttggg>gtGg	p.G422del	BCHE_uc003fen.4_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	422					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	ATTATAATCCCCAACAACATCAC	0.424													-	165547560	CAA	-	165547558	7	5	98	1	0	1	0	1	0	0	0	0	1358	594	21	0	556	0	BCHE	3	165547558	In_Frame_Del	DEL	CAA	TCGA-BR-8591-01A-11D-2394-08	766308	165547558	32474872	382	64712											
LRRC31	79782	broad.mit.edu	37	chr3	169579523	169579523	+	Frame_Shift_Del	DEL	T	T	-													ctagacacttgttgacagccTttttgcccagcttctgcagg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:169579523delT	uc003fgc.1	-	2	331	c.254delA	c.(253-255)AAGfs	p.K85fs	LRRC31_uc010hwp.1_Frame_Shift_Del_p.K85fs	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	85										ovary(2)|skin(1)	3	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GTTGACAGCCTTTTTGCCCAG	0.408													-	169579523	T	-	169579523	7	5	98	1	0	1	0	1	0	0	0	0	8986	1609	56	0	1436	0	LRRC31	3	169579523	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	4031965	169579523	28442907	383	64713											
PRKCI	5584	broad.mit.edu	37	chr3	170020907	170020908	+	Frame_Shift_Del	DEL	TG	TG	-													ttttgatgtctgcagaagaaTgtgtctgatcctcatttttc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:170020906_170020907ATG>A	uc003fgs.2	+	17	2020_2021	c.1782_1783ATG>A	c.(1780-1785)gaatgtfs	p.E594fs	PRKCI_uc003fgt.2_Frame_Shift_Del_p.E149fs	NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	594	AGC-kinase C-terminal.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CTGCAGAAGAATGTGTCTGATC	0.332													-	170020908	TG	-	170020907	7	5	98	1	0	1	0	1	0	0	0	0	12514	1464	51	0	1853	0	PRKCI	3	170020907	Frame_Shift_Del	DEL	TG	TCGA-BR-8591-01A-11D-2394-08	441384	170020907	28001523	384	64714											
NAALADL2	254827	broad.mit.edu	37	chr3	174974311	174974311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattaggaaaattgccactgCtttataaggttggtccagtg	10	6	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:174974311C>T	uc003fit.2	+	4	1018	c.931C>T	c.(931-933)CTT>TTT	p.L311F	NAALADL2_uc003fiu.1_Missense_Mutation_p.L304F|NAALADL2_uc010hwy.1_Missense_Mutation_p.L133F|NAALADL2_uc010hwz.1_5'UTR	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	311	Extracellular (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ATTGCCACTGCTTTATAAGGT	0.358													T	174974311	C	T	174974311	3	4	98	1	0	0	0	0	1	0	0	0	10130	797	28	2	945	2	NAALADL2	3	174974311	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	4953404	174974311	23048119	385	64715											
PIK3CA	5290	broad.mit.edu	37	chr3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attttttgatgaaacaagacGactttgtgaccttcggcttt	8	7	0	4	rs121913287		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:178916876G>A	uc003fjk.2	+	2	420	c.263G>A	c.(262-264)CGA>CAA	p.R88Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	88	PI3K-ABD.		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R88Q(26)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAACAAGACGACTTTGTGAC	0.363	R88Q(SKUT1_SOFT_TISSUE)|R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916876	G	A	178916876	3	1	98	1	0	0	0	0	1	0	0	0	11913	1058	37	1	265	1	PIK3CA	3	178916876	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3942565	178916876	19105554	386	64716											
PIK3CA	5290	broad.mit.edu	37	chr3	178922363	178922363	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaacactcaaagagtacctTgttccaatcccaggtaagga	8	10	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:178922363T>C	uc003fjk.2	+	6	1289	c.1132T>C	c.(1132-1134)TGT>CGT	p.C378R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	378	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.C378R(3)|p.C378F(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AAGAGTACCTTGTTCCAATCC	0.308		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			C	178922363	T	C	178922363	3	2	98	1	0	0	0	0	1	0	0	0	11913	1812	63	3	1150	3	PIK3CA	3	178922363	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	5487	178922363	19100067	387	64717											
USP13	8975	broad.mit.edu	37	chr3	179408081	179408081	+	Frame_Shift_Del	DEL	T	T	-													aaaaaggaggaattccaagaTttttttaggtaaatagttat							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:179408081delT	uc003fkh.2	+	3	428	c.347delT	c.(346-348)ATTfs	p.I116fs	USP13_uc003fkf.2_Frame_Shift_Del_p.I116fs	NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	116					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AATTCCAAGATTTTTTTAGGT	0.353													-	179408081	T	-	179408081	7	5	98	1	0	1	0	1	0	0	0	0	17041	1493	52	0	357	0	USP13	3	179408081	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	485718	179408081	18614349	388	64718											
PSMD2	5708	broad.mit.edu	37	chr3	184026652	184026652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaaggttttgttatccttCggaagaaccccaattatgat	9	7	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:184026652C>T	uc003fnn.1	+	21	2734	c.2701C>T	c.(2701-2703)CGG>TGG	p.R901W	PSMD2_uc011brj.1_Missense_Mutation_p.R742W|PSMD2_uc011brk.1_Missense_Mutation_p.R771W	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	901				LRKNPNYDL -> FGRTPIMISK (in Ref. 3 and 4).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TGTTATCCTTCGGAAGAACCC	0.532											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	184026652	C	T	184026652	3	4	98	1	0	0	0	0	1	0	0	0	12698	875	31	1	2783	1	PSMD2	3	184026652	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	4618571	184026652	13995778	389	64719											
EIF4G1	1981	broad.mit.edu	37	chr3	184043072	184043072	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctagccccgaatggatcagTatttcaaccagatggaaaaa	8	10	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:184043072T>C	uc003fnp.2	+	19	3070	c.2872T>C	c.(2872-2874)TAT>CAT	p.Y958H	EIF4G1_uc003fno.1_Missense_Mutation_p.Y899H|EIF4G1_uc010hxw.1_Missense_Mutation_p.Y794H|EIF4G1_uc003fnt.2_Missense_Mutation_p.Y669H|EIF4G1_uc003fnq.2_Missense_Mutation_p.Y871H|EIF4G1_uc003fnr.2_Missense_Mutation_p.Y794H|EIF4G1_uc010hxx.2_Missense_Mutation_p.Y965H|EIF4G1_uc003fns.2_Missense_Mutation_p.Y918H|EIF4G1_uc010hxy.2_Missense_Mutation_p.Y965H|EIF4G1_uc003fnv.3_Missense_Mutation_p.Y959H|EIF4G1_uc003fnu.3_Missense_Mutation_p.Y958H|EIF4G1_uc003fnw.2_Missense_Mutation_p.Y965H|EIF4G1_uc003fnx.2_Missense_Mutation_p.Y763H|EIF4G1_uc003fny.3_Missense_Mutation_p.Y762H|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	958	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AATGGATCAGTATTTCAACCA	0.532													C	184043072	T	C	184043072	3	2	98	1	0	0	0	0	1	0	0	0	5036	1638	57	3	2938	3	EIF4G1	3	184043072	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	16420	184043072	13979358	390	64720											
MUC4	4585	broad.mit.edu	37	chr3	195488973	195488973	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcacccaggagcccctccgTgcggttctggtactcgggcg	13	16	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:195488973T>C	uc011bto.1	-	15	14573	c.14113A>G	c.(14113-14115)ACG>GCG	p.T4705A	MUC4_uc003fuz.2_Missense_Mutation_p.T431A|MUC4_uc003fva.2_Missense_Mutation_p.T313A|MUC4_uc003fvb.2_Missense_Mutation_p.T349A|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.T349A|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.T313A|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.T397A|MUC4_uc011bti.1_Missense_Mutation_p.T397A|MUC4_uc011btj.1_Missense_Mutation_p.T574A|MUC4_uc011btk.1_Missense_Mutation_p.T313A|MUC4_uc011btl.1_Missense_Mutation_p.T342A|MUC4_uc011btm.1_Missense_Mutation_p.T522A|MUC4_uc011btn.1_Missense_Mutation_p.T313A|MUC4_uc003fvo.2_Missense_Mutation_p.T597A|MUC4_uc003fvp.2_Missense_Mutation_p.T546A	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1590	VWFD.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGCCCCTCCGTGCGGTTCTGG	0.746													C	195488973	T	C	195488973	3	2	98	1	0	0	0	0	1	0	0	0	9978	1696	59	3	1789	3	MUC4	3	195488973	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	11445901	195488973	2533457	391	64721											
WDR53	348793	broad.mit.edu	37	chr3	196287913	196287913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctctgaggcctctgaggcCgaaaagccactgaggagcag	15	11	2	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:196287913C>T	uc003fwt.2	-	3	905	c.434G>A	c.(433-435)CGG>CAG	p.R145Q		NM_182627	NP_872433	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	145	WD 3.									breast(1)|skin(1)	2	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CCTCTGAGGCCGAAAAGCCAC	0.468													T	196287913	C	T	196287913	3	4	98	1	0	0	0	0	1	0	0	0	17302	652	23	1	650	1	WDR53	3	196287913	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	798940	196287913	1734517	392	64722											
LRRC33	375387	broad.mit.edu	37	chr3	196386986	196386986	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgctccagaacctctccTcgctgcggtccgtgtccctg	9	17	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:196386986T>C	uc003fwv.2	+	3	576	c.472T>C	c.(472-474)TCG>CCG	p.S158P		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	158	Extracellular (Potential).|LRR 5.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GAACCTCTCCTCGCTGCGGTC	0.677													C	196386986	T	C	196386986	3	2	98	1	0	0	0	0	1	0	0	0	8988	1551	54	3	478	3	LRRC33	3	196386986	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	99073	196386986	1635444	393	64723											
MFSD7	84179	broad.mit.edu	37	chr4	676598	676598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagtggatcctccccctgCtggcaggtggacaaggacgg	14	12	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:676598C>T	uc003gay.2	-	9	1293	c.1236G>A	c.(1234-1236)CAG>CAA	p.Q412Q	MFSD7_uc003gaw.2_Silent_p.Q154Q|MFSD7_uc003gax.2_Silent_p.Q411Q|MFSD7_uc003gaz.2_Silent_p.Q293Q|MFSD7_uc003gba.2_Silent_p.Q315Q|MFSD7_uc003gbb.1_Silent_p.Q347Q	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing	412					transmembrane transport	integral to membrane					0						CCTCCCCCTGCTGGCAGGTGG	0.627													T	676598	C	T	676598	2	4	98	1	0	0	0	0	0	0	0	1	9537	796	28	2		2	MFSD7	4	676598	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08		676598	190477678	394	64724											
GAK	2580	broad.mit.edu	37	chr4	875753	875753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgctgaacatgtacacggCggcctccgcggtgctgaaga	13	12	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:875753C>T	uc003gbm.3	-	15	1802	c.1603G>A	c.(1603-1605)GCC>ACC	p.A535T	GAK_uc003gbn.3_Missense_Mutation_p.A456T|GAK_uc010ibk.1_Missense_Mutation_p.A429T|GAK_uc003gbl.3_Missense_Mutation_p.A399T	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	535	Phosphatase tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		ATGTACACGGCGGCCTCCGCG	0.647													T	875753	C	T	875753	3	4	98	1	0	0	0	0	1	0	0	0	6195	768	27	1	2388	1	GAK	4	875753	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	199155	875753	190278523	395	64725											
DGKQ	1609	broad.mit.edu	37	chr4	954870	954870	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagatgatcatgtgcccCggggcctggacccagggctc	15	13	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:954870C>T	uc003gbw.2	-	22	2768	c.2694G>A	c.(2692-2694)CCG>CCA	p.P898P	DGKQ_uc010ibn.2_Silent_p.P885P	NM_001347	NP_001338	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta	898					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCATGTGCCCCGGGGCCTGGA	0.687													T	954870	C	T	954870	2	4	98	1	0	0	0	0	0	0	0	1	4473	639	23	1		1	DGKQ	4	954870	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	79117	954870	190199406	396	64726											
IDUA	3425	broad.mit.edu	37	chr4	995599	995599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggcctcctgcgccactGccacgacggtaccaacttct	10	17	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:995599G>A	uc003gby.2	+	6	810	c.722G>A	c.(721-723)TGC>TAC	p.C241Y	IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Missense_Mutation_p.C194Y	NM_000203	NP_000194	P35475	IDUA_HUMAN	alpha-L-iduronidase precursor	241					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	CTGCGCCACTGCCACGACGGT	0.736													A	995599	G	A	995599	3	1	98	1	0	0	0	0	1	0	0	0	7504	1319	46	2	744	2	IDUA	4	995599	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	40729	995599	190158677	397	64727											
RNF212	285498	broad.mit.edu	37	chr4	1075367	1075368	+	Frame_Shift_Del	DEL	TT	TT	-													ttacttacttgaaactgaacTttttattgtgctgaaagctg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:1075367_1075368delTT	uc003gcj.2	-	6	732_733	c.402_403delAA	c.(400-405)AAAAGTfs	p.K134fs	RNF212_uc003gch.2_5'UTR|RNF212_uc003gci.2_Frame_Shift_Del_p.K134fs|RNF212_uc010ibp.2_Intron|RNF212_uc010ibq.2_Intron	NM_001131034	NP_001124506	Q495C1	RN212_HUMAN	ring finger protein 212 isoform a	134_135							zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		GAAACTGAACTTTTTATTGTGC	0.371													-	1075368	TT	-	1075367	7	5	98	1	0	1	0	1	0	0	0	0	13476	1609	56	0	510	0	RNF212	4	1075367	Frame_Shift_Del	DEL	TT	TCGA-BR-8591-01A-11D-2394-08	79768	1075367	190078909	398	64728											
CTBP1	1487	broad.mit.edu	37	chr4	1207322	1207322	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcatctcgatggatgccTgctcgctgtaccatgcagca	10	14	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:1207322T>C	uc003gcv.1	-	7	1130	c.965A>G	c.(964-966)CAG>CGG	p.Q322R	uc003gcs.1_Intron|CTBP1_uc003gct.1_Missense_Mutation_p.Q303R|CTBP1_uc003gcu.1_Missense_Mutation_p.Q311R|CTBP1_uc003gcw.2_5'UTR	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	C-terminal binding protein 1 isoform 1	322	Interaction with GLIS2 2 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GATGGATGCCTGCTCGCTGTA	0.647													C	1207322	T	C	1207322	3	2	98	1	0	0	0	0	1	0	0	0	3997	1580	55	3	369	3	CTBP1	4	1207322	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	131955	1207322	189946954	399	64729											
MAEA	10296	broad.mit.edu	37	chr4	1326598	1326598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccagctggacgaggtgcGccaggccatgggcatgctgg	18	11	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:1326598G>A	uc003gda.2	+	6	740	c.710G>A	c.(709-711)CGC>CAC	p.R237H	MAEA_uc003gdb.2_Missense_Mutation_p.R196H|MAEA_uc011bvb.1_Missense_Mutation_p.R169H|MAEA_uc003gdc.2_Silent_p.A170A|MAEA_uc003gdd.2_RNA|MAEA_uc011bvc.1_Missense_Mutation_p.R236H|MAEA_uc011bvd.1_Missense_Mutation_p.R189H|MAEA_uc010ibt.2_Intron|MAEA_uc010ibu.2_RNA	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher isoform 1	237					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			GACGAGGTGCGCCAGGCCATG	0.547													A	1326598	G	A	1326598	3	1	98	1	0	0	0	0	1	0	0	0	9153	1087	38	1	732	1	MAEA	4	1326598	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	119276	1326598	189827678	400	64730											
CRIPAK	285464	broad.mit.edu	37	chr4	1388615	1388615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtgcccatgtggagtgccCgcctgctcacgtgcccatgt	12	15	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:1388615C>T	uc003gdf.2	+	1	3276	c.316C>T	c.(316-318)CGC>TGC	p.R106C		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	106	2.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGGAGTGCCCGCCTGCTCAC	0.667													T	1388615	C	T	1388615	3	4	98	1	0	0	0	0	1	0	0	0	3877	652	23	1	318	1	CRIPAK	4	1388615	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	62017	1388615	189765661	401	64731											
LETM1	3954	broad.mit.edu	37	chr4	1843251	1843251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcgggggggctgtacacCgggccgccttcctccagctt	14	15	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:1843251C>T	uc003gdv.2	-	3	714	c.417G>A	c.(415-417)CCG>CCA	p.P139P	LETM1_uc010icc.2_5'Flank|LETM1_uc011bvg.1_Silent_p.P139P	NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	139	Mitochondrial intermembrane (Potential).				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GGCTGTACACCGGGCCGCCTT	0.607													T	1843251	C	T	1843251	2	4	98	1	0	0	0	0	0	0	0	1	8734	639	23	1		1	LETM1	4	1843251	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	454636	1843251	189311025	402	64732											
WHSC1	7468	broad.mit.edu	37	chr4	1980533	1980533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcatgacttaggggcggcatCggtcagaagcaccaagactg	14	10	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:1980533C>T	uc003gdz.3	+	22	4171	c.3995C>T	c.(3994-3996)TCG>TTG	p.S1332L	WHSC1_uc003geb.3_Missense_Mutation_p.S1332L|WHSC1_uc003gec.3_Missense_Mutation_p.S1332L|WHSC1_uc003ged.3_Missense_Mutation_p.S1332L|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.S551L|WHSC1_uc011bvh.1_Missense_Mutation_p.S393L|WHSC1_uc010icf.2_Missense_Mutation_p.S680L	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	1332					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGGCGGCATCGGTCAGAAGC	0.647			T	IGH@	MM								T	1980533	C	T	1980533	3	4	98	1	0	0	0	0	1	0	0	0	17359	893	31	1	4153	1	WHSC1	4	1980533	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	137282	1980533	189173743	403	64733											
NOP14	8602	broad.mit.edu	37	chr4	2943337	2943337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgggtggctgcagtccGccaggtgatccgtgaggagg	18	11	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:2943337G>A	uc003ggj.1	-	15	2243	c.2171C>T	c.(2170-2172)GCG>GTG	p.A724V	C4orf10_uc003ggd.1_RNA|C4orf10_uc003gge.1_Intron|C4orf10_uc003ggg.1_RNA|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc003ggk.3_Missense_Mutation_p.A724V|NOP14_uc003ggl.2_Missense_Mutation_p.A724V	NM_003703	NP_003694	P78316	NOP14_HUMAN	probable nucleolar complex protein 14	724					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)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1						GCTGCAGTCCGCCAGGTGATC	0.672													A	2943337	G	A	2943337	3	1	98	1	0	0	0	0	1	0	0	0	10536	1087	38	1	418	1	NOP14	4	2943337	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	962804	2943337	188210939	404	64734											
HTT	3064	broad.mit.edu	37	chr4	3219644	3219644	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcatcagcctggcccgcctgCcccttgtcaacagctacaca	7	18	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:3219644C>G	uc011bvq.1	+	53	7358	c.7213C>G	c.(7213-7215)CCC>GCC	p.P2405A		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2403	Nuclear export signal (By similarity).				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGCCCGCCTGCCCCTTGTCAA	0.587													G	3219644	C	G	3219644	3	3	98	1	0	0	0	0	1	0	0	0	7457	739	26	5	7413	5	HTT	4	3219644	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	276307	3219644	187934632	405	64735											
HGFAC	3083	broad.mit.edu	37	chr4	3449296	3449296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgtgacgcagaccttcgGcatcgagaagtacatcccgt	12	12	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:3449296G>A	uc003ghc.2	+	11	1436	c.1433G>A	c.(1432-1434)GGC>GAC	p.G478D	HGFAC_uc010icw.2_Missense_Mutation_p.G485D	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	478	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CAGACCTTCGGCATCGAGAAG	0.652													A	3449296	G	A	3449296	3	1	98	1	0	0	0	0	1	0	0	0	7086	1203	42	2	1475	2	HGFAC	4	3449296	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	229652	3449296	187704980	406	64736											
MAN2B2	23324	broad.mit.edu	37	chr4	6599929	6599929	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggttgctgcaggtccAgcaccatgatgccatcactg	13	12	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:6599929A>G	uc003gjf.1	+	9	1289	c.1253A>G	c.(1252-1254)CAG>CGG	p.Q418R	MAN2B2_uc003gje.1_Missense_Mutation_p.Q418R|MAN2B2_uc011bwf.1_Missense_Mutation_p.Q367R	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	418					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						CTGCAGGTCCAGCACCATGAT	0.602													G	6599929	A	G	6599929	3	3	98	1	0	0	0	0	1	0	0	0	9217	188	7	3	1287	3	MAN2B2	4	6599929	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	3150633	6599929	184554347	407	64737											
ACOX3	8310	broad.mit.edu	37	chr4	8401375	8401375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgaccttgtggaacatggCgaaactgtggggaagcagca	14	8	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:8401375C>T	uc010idk.2	-	8	926	c.781G>A	c.(781-783)GCC>ACC	p.A261T	ACOX3_uc003glc.3_Missense_Mutation_p.A261T|ACOX3_uc003gld.3_Missense_Mutation_p.A261T|ACOX3_uc003gle.1_Missense_Mutation_p.A166T	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	261					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			central_nervous_system(1)	1						TGGAACATGGCGAAACTGTGG	0.577													T	8401375	C	T	8401375	3	4	98	1	0	0	0	0	1	0	0	0	160	768	27	1	1365	1	ACOX3	4	8401375	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1801446	8401375	182752901	408	64738											
NKX3-2	579	broad.mit.edu	37	chr4	13545772	13545772	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggagtccgagtcccagccTtccgggctctccgcagtccg	13	17	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:13545772T>C	uc003gmx.2	-	1	343	c.267A>G	c.(265-267)GAA>GAG	p.E89E		NM_001189	NP_001180	P78367	NKX32_HUMAN	NK3 homeobox 2	89					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AGTCCCAGCCTTCCGGGCTCT	0.562													C	13545772	T	C	13545772	2	2	98	1	0	0	0	0	0	0	0	1	10456	1606	56	3		3	NKX3-2	4	13545772	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	5144397	13545772	177608504	409	64739											
BOD1L	259282	broad.mit.edu	37	chr4	13602317	13602317	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggaaataatcaaaacTttgccttgatttttaccccc	6	10	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:13602317T>G	uc003gmz.1	-	10	6324	c.6207A>C	c.(6205-6207)AAA>AAC	p.K2069N	BOD1L_uc010idr.1_Missense_Mutation_p.K1406N	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2069							DNA binding			ovary(5)|breast(1)	6						TAATCAAAACTTTGCCTTGAT	0.438													G	13602317	T	G	13602317	3	3	98	1	0	0	0	0	1	0	0	0	1483	1606	56	5	3016	5	BOD1L	4	13602317	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	56545	13602317	177551959	410	64740											
QDPR	5860	broad.mit.edu	37	chr4	17492351	17492351	+	Frame_Shift_Del	DEL	G	G	-													gcattgatttcctgttcatcGgggtatccagggtaaccctg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:17492350_17492350CG>C	uc003gpd.3	-	5	744	c.564_564CG>G	c.(562-564)ccgfs	p.P188fs	QDPR_uc021xmo.1_Non-coding_Transcript|QDPR_uc003gpe.3_Frame_Shift_Del_p.P157fs	NM_000320	NP_000311	P09417	DHPR_HUMAN	Homo sapiens quinoid dihydropteridine reductase (QDPR), mRNA.	188					L-phenylalanine catabolic process|dihydrobiopterin metabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity	p.P188T(1)|p.P188L(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	TCCTGTTCATCGGGGTATCCA	0.502													-	17492351	G	-	17492351	7	5	98	1	0	1	0	1	0	0	0	0	12872	1116	39	0	179	0	QDPR	4	17492351	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	3890034	17492351	173661925	411	64741											
CCKAR	886	broad.mit.edu	37	chr4	26483341	26483341	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggtcccgccttcctcctcCtcccccacctctcccctcgc	5	25	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:26483341C>A	uc003gse.1	-	5	1359	c.1206G>T	c.(1204-1206)GAG>GAT	p.E402D		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	402	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			lung(3)|pancreas(1)	4		Breast(46;0.0503)			Ceruletide(DB00403)	CTTCCTCCTCCTCCCCCACCT	0.632													A	26483341	C	A	26483341	3	1	98	1	0	0	0	0	1	0	0	0	2880	680	24	5	84	5	CCKAR	4	26483341	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	8990990	26483341	164670935	412	64742											
PCDH7	5099	broad.mit.edu	37	chr4	30724208	30724208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcttcacggtcatggcccgCgaccgcgggcagccccccaa	12	19	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:30724208C>T	uc003gsk.1	+	1	2172	c.1164C>T	c.(1162-1164)CGC>CGT	p.R388R	PCDH7_uc011bxw.1_Silent_p.R341R|PCDH7_uc011bxx.1_Silent_p.R388R	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	388	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						TCATGGCCCGCGACCGCGGGC	0.647													T	30724208	C	T	30724208	2	4	98	1	0	0	0	0	0	0	0	1	11516	755	27	1		1	PCDH7	4	30724208	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	4240867	30724208	160430068	413	64743											
WDR19	57728	broad.mit.edu	37	chr4	39246134	39246134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgaaaaaggtctctactaCgataaagcagcatctgttta	7	7	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:39246134C>T	uc003gtv.2	+	23	2761	c.2607C>T	c.(2605-2607)TAC>TAT	p.Y869Y	WDR19_uc011byi.1_Silent_p.Y709Y|WDR19_uc003gtw.1_Silent_p.Y466Y	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	869	TPR 3.				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						GTCTCTACTACGATAAAGCAG	0.388													T	39246134	C	T	39246134	2	4	98	1	0	0	0	0	0	0	0	1	17276	547	19	1		1	WDR19	4	39246134	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	8521926	39246134	151908142	414	64744											
UGDH	7358	broad.mit.edu	37	chr4	39511480	39511480	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgcttcacacagagcactTatggagttaatgctgcttat	9	8	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:39511480T>C	uc003guk.1	-	6	1027	c.711A>G	c.(709-711)ATA>ATG	p.I237M	UGDH_uc011byp.1_Missense_Mutation_p.I140M|UGDH_uc003gul.1_Missense_Mutation_p.I170M	NM_003359	NP_003350	O60701	UGDH_HUMAN	UDP-glucose dehydrogenase	237					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4					NADH(DB00157)	ACAGAGCACTTATGGAGTTAA	0.383													C	39511480	T	C	39511480	3	2	98	1	0	0	0	0	1	0	0	0	16937	1744	61	3	801	3	UGDH	4	39511480	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	265346	39511480	151642796	415	64745											
C4orf34	201895	broad.mit.edu	37	chr4	39606701	39606701	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcatctcaccagattgatcAgtcttctcattgcatgttca	6	11	5	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:39606701A>G	uc003guo.2	-	2	223	c.65T>C	c.(64-66)CTG>CCG	p.L22P		NM_174921	NP_777581	Q96QK8	CD034_HUMAN	hypothetical protein LOC201895	22						integral to membrane	protein binding				0						CAGATTGATCAGTCTTCTCAT	0.393													G	39606701	A	G	39606701	3	3	98	1	0	0	0	0	1	0	0	0	2264	188	7	3	250	3	C4orf34	4	39606701	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	95221	39606701	151547575	416	64746											
ATP10D	57205	broad.mit.edu	37	chr4	47538508	47538508	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcattttttcaatgttcccgAgcctgatggacatatcatat	7	9	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:47538508A>G	uc003gxk.1	+	8	1234	c.1070A>G	c.(1069-1071)GAG>GGG	p.E357G	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.E357G	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	357	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						AATGTTCCCGAGCCTGATGGA	0.358													G	47538508	A	G	47538508	3	3	98	1	0	0	0	0	1	0	0	0	1118	304	11	3	1096	3	ATP10D	4	47538508	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	7931807	47538508	143615768	417	64747											
PDGFRA	5156	broad.mit.edu	37	chr4	55140717	55140717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgcgttctgaactcacGgtggctgctgcagtcctggt	13	13	2	1	rs142562038	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:55140717G>A	uc003han.3	+	11	1909	c.1578G>A	c.(1576-1578)ACG>ACA	p.T526T	PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Silent_p.T420T|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_5'Flank	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	526	Helical; (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTGAACTCACGGTGGCTGCTG	0.473			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			A	55140717	G	A	55140717	2	1	98	1	0	0	0	0	0	0	0	1	11661	1103	39	1		1	PDGFRA	4	55140717	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	7602209	55140717	136013559	418	64748											
KDR	3791	broad.mit.edu	37	chr4	55956190	55956190	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccaaagtcacagattttaAccacgttcttctccgataag	6	11	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:55956190A>G	uc003has.2	-	23	3427	c.3125T>C	c.(3124-3126)GTT>GCT	p.V1042A	KDR_uc003hat.1_Missense_Mutation_p.V1042A	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	1042	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	ACAGATTTTAACCACGTTCTT	0.438			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			G	55956190	A	G	55956190	3	3	98	1	0	0	0	0	1	0	0	0	8139	43	2	3	977	3	KDR	4	55956190	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	815473	55956190	135198086	419	64749											
CEP135	9662	broad.mit.edu	37	chr4	56823491	56823491	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagttcctcaaccagatgAcccttacattgcagacctcc	5	16	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:56823491A>G	uc003hbi.2	+	5	809	c.575A>G	c.(574-576)GAC>GGC	p.D192G	CEP135_uc003hbh.1_Missense_Mutation_p.D192G|CEP135_uc010igz.1_Missense_Mutation_p.D22G	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	192					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)					CAACCAGATGACCCTTACATT	0.408													G	56823491	A	G	56823491	3	3	98	1	0	0	0	0	1	0	0	0	3247	275	10	3	589	3	CEP135	4	56823491	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	867301	56823491	134330785	420	64750											
KIAA1211	57482	broad.mit.edu	37	chr4	57182056	57182056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatttgccaaagacctcccGtctttccttgtcccaagcct	5	15	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:57182056G>A	uc003hbk.2	+	8	2779	c.2388G>A	c.(2386-2388)CCG>CCA	p.P796P	KIAA1211_uc010iha.2_Silent_p.P789P|KIAA1211_uc011bzz.1_Silent_p.P706P|KIAA1211_uc003hbm.1_Silent_p.P682P	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	796										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					AAGACCTCCCGTCTTTCCTTG	0.597													A	57182056	G	A	57182056	2	1	98	1	0	0	0	0	0	0	0	1	8215	1132	40	1		1	KIAA1211	4	57182056	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	358565	57182056	133972220	421	64751											
REST	5978	broad.mit.edu	37	chr4	57798281	57798281	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatcgccatttggttaatgTgtactatcttgaagaagcag	9	7	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:57798281T>C	uc003hch.2	+	4	3604	c.3257T>C	c.(3256-3258)GTG>GCG	p.V1086A	REST_uc003hci.2_Missense_Mutation_p.V1086A|REST_uc010ihf.2_Missense_Mutation_p.V760A	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	1086	Interaction with RCOR1.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Glioma(25;0.08)|all_neural(26;0.181)					TTGGTTAATGTGTACTATCTT	0.358													C	57798281	T	C	57798281	3	2	98	1	0	0	0	0	1	0	0	0	13234	1696	59	3	3267	3	REST	4	57798281	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	616225	57798281	133355995	422	64752											
EPHA5	2044	broad.mit.edu	37	chr4	66201823	66201823	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcttggcagacgatagccTtcctctaccgctttaatcac	9	13	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:66201823T>G	uc003hcy.2	-	16	2872	c.2679A>C	c.(2677-2679)GAA>GAC	p.E893D	EPHA5_uc003hcx.2_Missense_Mutation_p.E825D|EPHA5_uc003hcz.2_Missense_Mutation_p.E871D|EPHA5_uc011cah.1_Missense_Mutation_p.E894D|EPHA5_uc011cai.1_Missense_Mutation_p.E872D|EPHA5_uc003hda.2_Missense_Mutation_p.E894D	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	893	Cytoplasmic (Potential).|Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						GACGATAGCCTTCCTCTACCG	0.448										TSP Lung(17;0.13)			G	66201823	T	G	66201823	3	3	98	1	0	0	0	0	1	0	0	0	5170	1606	56	5	446	5	EPHA5	4	66201823	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	8403542	66201823	124952453	423	64753											
NPFFR2	10886	broad.mit.edu	37	chr4	73013327	73013327	+	Frame_Shift_Del	DEL	A	A	-													tttccagctccagctctgccAaaaaagagcaaagcctatgg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:73013326_73013326CA>C	uc003hgg.2	+	3	1464	c.1366_1366CA>C	c.(1366-1368)caafs	p.Q456fs	NPFFR2_uc010iig.2_Frame_Shift_Del_p.Q238fs|NPFFR2_uc003hgi.2_Frame_Shift_Del_p.Q357fs|NPFFR2_uc003hgh.2_Frame_Shift_Del_p.Q354fs	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	456					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.C455R(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CCAGCTCTGCCAAAAAAGAGC	0.438													-	73013327	A	-	73013327	7	5	98	1	0	1	0	1	0	0	0	0	10578	130	5	0	1387	0	NPFFR2	4	73013327	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	6811504	73013327	118140949	424	64754											
THAP9	79725	broad.mit.edu	37	chr4	83838382	83838382	+	Frame_Shift_Del	DEL	T	T	-													tggagaacacctcttggttaTttttttgtaaacagagcatc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:83838381_83838381AT>A	uc003hnt.2	+	4	1135	c.1016_1016AT>A	c.(1015-1017)tatfs	p.Y339fs	THAP9_uc003hns.1_Frame_Shift_Del_p.Y195fs|THAP9_uc003hnu.1_Non-coding_Transcript|THAP9_uc003hnv.2_Frame_Shift_Del_p.Y56fs	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	Homo sapiens THAP domain containing 9 (THAP9), mRNA.	339							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				CCTCTTGGTTATTTTTTTGTA	0.418													-	83838382	T	-	83838382	7	5	98	1	0	1	0	1	0	0	0	0	15848	1500	52	0	1035	0	THAP9	4	83838382	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	10825055	83838382	107315894	425	64755											
CDS1	1040	broad.mit.edu	37	chr4	85525514	85525514	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaagctctatctggttTatcttcaaggtatgattgga	8	6	4	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:85525514T>C	uc011ccv.1	+	2	734	c.236T>C	c.(235-237)TTA>TCA	p.L79S		NM_001263	NP_001254	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase 1	79					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			large_intestine(2)|ovary(1)|breast(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CTATCTGGTTTATCTTCAAGG	0.368													C	85525514	T	C	85525514	3	2	98	1	0	0	0	0	1	0	0	0	3177	1764	61	3	242	3	CDS1	4	85525514	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1687132	85525514	105628762	426	64756											
WDFY3	23001	broad.mit.edu	37	chr4	85598426	85598426	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacctcaccgagcagccTgagcagctgtcaccaccttc	8	16	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:85598426T>C	uc003hpd.2	-	67	10791	c.10383A>G	c.(10381-10383)TCA>TCG	p.S3461S	WDFY3_uc003hpc.2_Silent_p.S216S	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	3461	FYVE-type.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCGAGCAGCCTGAGCAGCTGT	0.517													C	85598426	T	C	85598426	2	2	98	1	0	0	0	0	0	0	0	1	17267	1567	55	3		3	WDFY3	4	85598426	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	72912	85598426	105555850	427	64757											
WDFY3	23001	broad.mit.edu	37	chr4	85741342	85741342	+	Splice_Site	DEL	A	A	-													tattatttcttgagtcccctAaaaaaaggttcaaaggtcca							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:85741341_85741341TA>T	uc003hpd.3	-	12	2000	c.1592_splice	c.e12-1	p.G531_splice	WDFY3_uc003hpf.3_Splice_Site_p.G531_splice	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	531						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGAGTCCCCTAAAAAAAGGT	0.323													-	85741342	A	-	85741342	8	5	98	1	0	1	0	1	0	0	1	0	17267	377	13	0		0	WDFY3	4	85741342	Splice_Site	DEL	A	TCGA-BR-8591-01A-11D-2394-08	142916	85741342	105412934	428	64758											
HERC3	8916	broad.mit.edu	37	chr4	89571095	89571095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgttttcttggggtgcaGggagtgatggtcagctagga	17	5	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:89571095G>A	uc003hrw.1	+	4	497	c.331G>A	c.(331-333)GGG>AGG	p.G111R	HERC3_uc003hrv.2_Missense_Mutation_p.G111R|HERC3_uc011cdn.1_5'UTR	NM_014606	NP_055421	Q15034	HERC3_HUMAN	hect domain and RLD 3	111	RCC1 3.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			lung(2)|prostate(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TTGGGGTGCAGGGAGTGATGG	0.502													A	89571095	G	A	89571095	3	1	98	1	0	0	0	0	1	0	0	0	7059	1000	35	4	337	4	HERC3	4	89571095	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3829753	89571095	101583181	429	64759											
PDLIM5	10611	broad.mit.edu	37	chr4	95561601	95561601	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccattgtaaccaggtcatcaGgttggttgttttttgaaatt	9	6	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:95561601G>T	uc003hti.2	+	9	1434	c.1283G>T	c.(1282-1284)AGA>ATA	p.R428I	PDLIM5_uc011cdx.1_Missense_Mutation_p.R325I|PDLIM5_uc003hth.2_Missense_Mutation_p.R319I|PDLIM5_uc003htj.2_Missense_Mutation_p.R103I|PDLIM5_uc003htk.2_Missense_Mutation_p.R457I|PDLIM5_uc011cdy.1_Missense_Mutation_p.R306I|PDLIM5_uc003htl.2_Missense_Mutation_p.R103I	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	428	LIM zinc-binding 1.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CAGGTCATCAGGTTGGTTGTT	0.383													T	95561601	G	T	95561601	3	4	98	1	0	0	0	0	1	0	0	0	11683	1014	35	5	1473	5	PDLIM5	4	95561601	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	5990506	95561601	95592675	430	64760											
CYP2U1	113612	broad.mit.edu	37	chr4	108871514	108871514	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggattctaagaagcccctcCtgactggaagatttggtcta	10	9	2	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:108871514C>A	uc003hyp.2	+	5	1653	c.1570C>A	c.(1570-1572)CTG>ATG	p.L524M	CYP2U1_uc011cfi.1_Missense_Mutation_p.L315M	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U,	524					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		GAAGCCCCTCCTGACTGGAAG	0.388													A	108871514	C	A	108871514	3	1	98	1	0	0	0	0	1	0	0	0	4175	680	24	5	1588	5	CYP2U1	4	108871514	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	13309913	108871514	82282762	431	64761											
ALPK1	80216	broad.mit.edu	37	chr4	113352014	113352014	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttatgttcccgagagtttCgagtgcaggttggataaact	11	7	1	1	rs145906942		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:113352014C>T	uc003iap.3	+	11	1590	c.1311C>T	c.(1309-1311)TTC>TTT	p.F437F	ALPK1_uc003ian.3_Silent_p.F437F|ALPK1_uc011cfx.1_Silent_p.F359F|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Silent_p.F265F	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	437							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CCGAGAGTTTCGAGTGCAGGT	0.413													T	113352014	C	T	113352014	2	4	98	1	0	0	0	0	0	0	0	1	544	883	31	1		1	ALPK1	4	113352014	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	4480500	113352014	77802262	432	64762											
ANK2	287	broad.mit.edu	37	chr4	114275552	114275552	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaggacagaaaaacacccGccagtatcgcctgggagaac	13	11	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:114275552G>A	uc003ibe.3	+	38	5878	c.5778G>A	c.(5776-5778)CCG>CCA	p.P1926P	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Silent_p.P1941P	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1893	Repeat-rich region.|Repeat A; approximate.				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)		AAAAACACCCGCCAGTATCGC	0.512													A	114275552	G	A	114275552	2	1	98	1	0	0	0	0	0	0	0	1	621	1074	38	1		1	ANK2	4	114275552	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	923538	114275552	76878724	433	64763											
ADAD1	132612	broad.mit.edu	37	chr4	123350870	123350870	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctggattgtgaaatctccCtgcatagagcaatttaacat	7	9	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:123350870C>A	uc003ieo.2	+	13	1939	c.1707C>A	c.(1705-1707)CCC>CCA	p.P569P	ADAD1_uc003iep.2_Silent_p.P558P|ADAD1_uc003ieq.2_Silent_p.P551P	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	569	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						TGAAATCTCCCTGCATAGAGC	0.328													A	123350870	C	A	123350870	2	1	98	1	0	0	0	0	0	0	0	1	231	668	24	5		5	ADAD1	4	123350870	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	9075318	123350870	67803406	434	64764											
ANKRD50	57182	broad.mit.edu	37	chr4	125590622	125590622	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaattttctgatttcccCcctttacttgctttagttga	6	10	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:125590622C>T	uc003ifg.3	-	3	4076	c.3810G>A	c.(3808-3810)GGG>GGA	p.G1270G	ANKRD50_uc011cgo.1_Silent_p.G1091G|ANKRD50_uc010inw.2_Silent_p.G1270G	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1270	Ser-rich.									central_nervous_system(1)	1						CTGATTTCCCCCCTTTACTTG	0.398													T	125590622	C	T	125590622	2	4	98	1	0	0	0	0	0	0	0	1	677	610	22	4		4	ANKRD50	4	125590622	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2239752	125590622	65563654	435	64765											
FAT4	79633	broad.mit.edu	37	chr4	126411264	126411264	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtgtccctcctggggaCtgtgcctcccacccgtgcca	12	16	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:126411264C>A	uc003ifj.3	+	17	13287	c.13287C>A	c.(13285-13287)GAC>GAA	p.D4429E	FAT4_uc011cgp.1_Missense_Mutation_p.D2670E|FAT4_uc003ifi.1_Missense_Mutation_p.D1906E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4429	EGF-like 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CTCCTGGGGACTGTGCCTCCC	0.612													A	126411264	C	A	126411264	3	1	98	1	0	0	0	0	1	0	0	0	5692	564	20	5	13353	5	FAT4	4	126411264	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	820642	126411264	64743012	436	64766											
SLC25A31	83447	broad.mit.edu	37	chr4	128688241	128688241	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgaggagcgacaattcAagggtttaggtgactgtatt	13	6	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:128688241A>G	uc003ifl.2	+	4	645	c.499A>G	c.(499-501)AAG>GAG	p.K167E		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier;	167	Solcar 2.				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity				0						GCGACAATTCAAGGGTTTAGG	0.343													G	128688241	A	G	128688241	3	3	98	1	0	0	0	0	1	0	0	0	14495	131	5	3	513	3	SLC25A31	4	128688241	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	2276977	128688241	62466035	437	64767											
PCDH10	57575	broad.mit.edu	37	chr4	134073056	134073056	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcaacgggactccagcgcgTgaggtgctgccccgctcggc	15	16	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:134073056T>C	uc003iha.2	+	1	2587	c.1761T>C	c.(1759-1761)CGT>CGC	p.R587R	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.R587R	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	587	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)		CTCCAGCGCGTGAGGTGCTGC	0.662													C	134073056	T	C	134073056	2	2	98	1	0	0	0	0	0	0	0	1	11507	1683	59	3		3	PCDH10	4	134073056	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	5384815	134073056	57081220	438	64768											
ELF2	1998	broad.mit.edu	37	chr4	139993141	139993141	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaatgacatctggcctcatAgcagcatggatgaattctgg	11	8	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:139993141A>G	uc003ihp.1	-	5	575	c.369T>C	c.(367-369)GCT>GCC	p.A123A	ELF2_uc003ihm.1_Silent_p.A75A|ELF2_uc003ihn.1_Silent_p.A63A|ELF2_uc003iho.1_Silent_p.A75A|ELF2_uc010ioh.2_Silent_p.A63A	NM_201999	NP_973728	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription	135					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2	all_hematologic(180;0.162)					CTGGCCTCATAGCAGCATGGA	0.408													G	139993141	A	G	139993141	2	3	98	1	0	0	0	0	0	0	0	1	5054	407	15	3		3	ELF2	4	139993141	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	5920085	139993141	51161135	439	64769											
TBC1D9	23158	broad.mit.edu	37	chr4	141555219	141555219	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acatgcccaaggaaagagaaGagcaaacattcccttgaact	8	10	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:141555219G>T	uc010ioj.2	-	16	2901	c.2629C>A	c.(2629-2631)CTT>ATT	p.L877I		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	877						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GGAAAGAGAAGAGCAAACATT	0.532													T	141555219	G	T	141555219	3	4	98	1	0	0	0	0	1	0	0	0	15624	942	33	5	1195	5	TBC1D9	4	141555219	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1562078	141555219	49599057	440	64770											
ZNF827	152485	broad.mit.edu	37	chr4	146824094	146824094	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtcatcgtcacacaaagaaGacactcccggggaaaggtga	12	10	2	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:146824094G>A	uc003ikn.2	-	2	365	c.317C>T	c.(316-318)TCT>TTT	p.S106F	ZNF827_uc003ikm.2_Missense_Mutation_p.S106F|ZNF827_uc010iox.2_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					ACACAAAGAAGACACTCCCGG	0.592													A	146824094	G	A	146824094	3	1	98	1	0	0	0	0	1	0	0	0	18177	942	33	4	2964	4	ZNF827	4	146824094	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	5268875	146824094	44330182	441	64771											
POU4F2	5458	broad.mit.edu	37	chr4	147560460	147560460	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagcaacgctggtggtggCggcggcggcggcggcggcgg	23	11	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:147560460C>T	uc003ikv.2	+	1	416	c.168C>T	c.(166-168)GGC>GGT	p.G56G		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	56	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)	1	all_hematologic(180;0.151)					CTggtggtggcggcggcggcg	0.383													T	147560460	C	T	147560460	2	4	98	1	0	0	0	0	0	0	0	1	12279	755	27	1		1	POU4F2	4	147560460	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	736366	147560460	43593816	442	64772											
LRBA	987	broad.mit.edu	37	chr4	151749739	151749739	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagattcttccactgatgcCgtagttaaagtgctgaatgc	9	9	2	3	rs144797074		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:151749739C>T	uc010ipj.2	-	30	5238	c.4764G>A	c.(4762-4764)ACG>ACA	p.T1588T	LRBA_uc003ilt.3_Silent_p.T247T|LRBA_uc003ilu.3_Silent_p.T1588T	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1588						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					CCACTGATGCCGTAGTTAAAG	0.398													T	151749739	C	T	151749739	2	4	98	1	0	0	0	0	0	0	0	1	8931	639	23	1		1	LRBA	4	151749739	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	4189279	151749739	39404537	443	64773											
LRBA	987	broad.mit.edu	37	chr4	151814245	151814245	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaggaatcatagagttAgggtgttctgacattaatgc	11	5	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:151814245A>G	uc010ipj.2	-	17	2598	c.2124T>C	c.(2122-2124)CCT>CCC	p.P708P	LRBA_uc003ilu.3_Silent_p.P708P|LRBA_uc010ipk.1_3'UTR	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	708						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					TCATAGAGTTAGGGTGTTCTG	0.313													G	151814245	A	G	151814245	2	3	98	1	0	0	0	0	0	0	0	1	8931	407	15	3		3	LRBA	4	151814245	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	64506	151814245	39340031	444	64774											
PRSS48	345062	broad.mit.edu	37	chr4	152203538	152203538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccttttgttgggtgaccGgatggggaaaagttaaggaa	14	6	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:152203538G>A	uc011cif.1	+	3	454	c.454G>A	c.(454-456)GGA>AGA	p.G152R	PRSS48_uc011cig.1_Intron	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	epidermis-specific serine protease-like protein	152	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)	1						TTGGGTGACCGGATGGGGAAA	0.463													A	152203538	G	A	152203538	3	1	98	1	0	0	0	0	1	0	0	0	12630	1117	39	1	464	1	PRSS48	4	152203538	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	389293	152203538	38950738	445	64775											
FHDC1	85462	broad.mit.edu	37	chr4	153864507	153864507	+	Frame_Shift_Del	DEL	T	T	-													agaaaaagcggatgagaagcTttttttggaaaactattccg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:153864506_153864506CT>C	uc003inf.2	+	0	372	c.297_297CT>C	c.(295-297)agcfs	p.S99fs		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	99	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGATGAGAAGCTTTTTTTGGA	0.512													-	153864507	T	-	153864507	7	5	98	1	0	1	0	1	0	0	0	0	5876	1609	56	0	300	0	FHDC1	4	153864507	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	1660969	153864507	37289769	446	64776											
FHDC1	85462	broad.mit.edu	37	chr4	153897805	153897805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagaggggctggggaaaGggcctccctccgtcggaagg	19	11	0	1	rs143246099		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:153897805G>A	uc003inf.2	+	11	3437	c.3362G>A	c.(3361-3363)AGG>AAG	p.R1121K		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1121					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					GCTGGGGAAAGGGCCTCCCTC	0.667													A	153897805	G	A	153897805	3	1	98	1	0	0	0	0	1	0	0	0	5876	1000	35	4	3404	4	FHDC1	4	153897805	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	33298	153897805	37256471	447	64777											
KIAA0922	23240	broad.mit.edu	37	chr4	154525352	154525353	+	Frame_Shift_Del	DEL	AC	AC	-													agaagaaaacacactgaaaaAcacaattgttttcagtaatc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:154525351_154525352AAC>A	uc010ipp.3	+	24	3239_3240	c.3187_3188AAC>A	c.(3187-3189)aacfs	p.N1063fs	KIAA0922_uc003inm.4_Frame_Shift_Del_p.N1062fs|KIAA0922_uc010ipq.3_Frame_Shift_Del_p.N831fs	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	1062						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CACACTGAAAAACACAATTGTT	0.361													-	154525353	AC	-	154525352	7	5	98	1	0	1	0	1	0	0	0	0	8201	43	2	0	3286	0	KIAA0922	4	154525352	Frame_Shift_Del	DEL	AC	TCGA-BR-8591-01A-11D-2394-08	627547	154525352	36628924	448	64778											
DCHS2	54798	broad.mit.edu	37	chr4	155253876	155253876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtcctcggggatccaagCaaacactctaaaattatatg	7	11	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:155253876C>T	uc003inw.2	-	9	1987	c.1987G>A	c.(1987-1989)GCT>ACT	p.A663T	DCHS2_uc003inx.2_Missense_Mutation_p.A1162T	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	663	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGGATCCAAGCAAACACTCTA	0.453													T	155253876	C	T	155253876	3	4	98	1	0	0	0	0	1	0	0	0	4288	710	25	2	6927	2	DCHS2	4	155253876	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	728524	155253876	35900400	449	64779											
FGG	2266	broad.mit.edu	37	chr4	155526202	155526202	+	Frame_Shift_Del	DEL	T	T	-													taaccattaggagtagatgcTtttgagtaagtgccacctaa							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:155526201_155526201CT>C	uc003ioj.3	-	8	1288	c.1147_1147AG>G	c.(1147-1149)gcafs	p.A383fs	FGG_uc003iog.3_Frame_Shift_Del_p.A383fs	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	383	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GGAGTAGATGCTTTTGAGTAA	0.378													-	155526202	T	-	155526202	7	5	98	1	0	1	0	1	0	0	0	0	5870	1606	56	0	238	0	FGG	4	155526202	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	272326	155526202	35628074	450	64780											
TDO2	6999	broad.mit.edu	37	chr4	156841067	156841067	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactggataccgaagatgaaCccaaccattcacaaatttct	5	12	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:156841067C>A	uc003ipf.1	+	12	1210	c.1146C>A	c.(1144-1146)AAC>AAA	p.N382K		NM_005651	NP_005642	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	382					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	CGAAGATGAACCCAACCATTC	0.353													A	156841067	C	A	156841067	3	1	98	1	0	0	0	0	1	0	0	0	15724	506	18	5	1192	5	TDO2	4	156841067	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1314865	156841067	34313209	451	64781											
GLRB	2743	broad.mit.edu	37	chr4	158065087	158065087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctggatcaacccggacGcgagtgctgccagagtgccc	12	15	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:158065087G>A	uc003ipj.2	+	8	1082	c.880G>A	c.(880-882)GCG>ACG	p.A294T		NM_000824	NP_000815	P48167	GLRB_HUMAN	glycine receptor, beta isoform A precursor	294					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			skin(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CAACCCGGACGCGAGTGCTGC	0.488													A	158065087	G	A	158065087	3	1	98	1	0	0	0	0	1	0	0	0	6458	1087	38	1	906	1	GLRB	4	158065087	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1224020	158065087	33089189	452	64782											
FAM198B	51313	broad.mit.edu	37	chr4	159091487	159091488	+	In_Frame_Ins	INS	-	-	GCT													caagcgcatggaaagacacgINSctgctgctgctgctgtccaa							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:159091486_159091487C>CGCT	uc003ipq.4	-	2	1330_1331	c.923_924G>AGCG	c.(922-924)gcg>gAGCG	p.A308E	AK096792_uc003ipu.1_5'Flank|FAM198B_uc003ipp.4_Intron|FAM198B_uc003ipr.4_Intron|FAM198B_uc003ips.3_3'UTR|AK126266_uc003ipt.1_5'Flank	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	Homo sapiens family with sequence similarity 198, member B (FAM198B), transcript variant 1, mRNA.	308						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGGAAAGACACGCTGCTGCTGC	0.455													GCT	159091488	-	GCT	159091487	7	5	98	1	0	1	1	0	0	0	0	0	5529	1087	38	0	753	0	FAM198B	4	159091487	In_Frame_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	1026400	159091487	32062789	453	64783											
TMEM144	55314	broad.mit.edu	37	chr4	159165463	159165463	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaagggtccaggatttataGctgcaatgtggggtatcttc	12	6	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:159165463G>T	uc003ipx.2	+	12	1436	c.916G>T	c.(916-918)GCT>TCT	p.A306S	TMEM144_uc010iqi.2_RNA	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	306	Helical; (Potential).					integral to membrane					0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		AGGATTTATAGCTGCAATGTG	0.269													T	159165463	G	T	159165463	3	4	98	1	0	0	0	0	1	0	0	0	16055	971	34	5	954	5	TMEM144	4	159165463	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	73976	159165463	31988813	454	64784											
FSTL5	56884	broad.mit.edu	37	chr4	162577520	162577520	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattatttagaataatattgTtccttttccagataatggga	6	4	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:162577520T>C	uc003iqh.2	-	7	1290	c.854A>G	c.(853-855)AAC>AGC	p.N285S	FSTL5_uc003iqi.2_Missense_Mutation_p.N284S|FSTL5_uc010iqv.2_Missense_Mutation_p.N284S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	285	Ig-like 1.					extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AATAATATTGTTCCTTTTCCA	0.353													C	162577520	T	C	162577520	3	2	98	1	0	0	0	0	1	0	0	0	6080	1725	60	3	1729	3	FSTL5	4	162577520	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	3412057	162577520	28576756	455	64785											
DDX60	55601	broad.mit.edu	37	chr4	169173785	169173785	+	Frame_Shift_Del	DEL	T	T	-													gctttgatccacatttctggTttttttctggctcttttcat							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:169173784_169173784GT>G	uc003irp.3	-	26	3873	c.3581_3581AC>C	c.(3580-3582)accfs	p.T1194fs		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1194							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CACATTTCTGGTTTTTTTCTG	0.323													-	169173785	T	-	169173785	7	5	98	1	0	1	0	1	0	0	0	0	4378	1725	60	0	1606	0	DDX60	4	169173785	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	6596265	169173785	21980491	456	64786											
DDX60	55601	broad.mit.edu	37	chr4	169182016	169182016	+	Splice_Site	DEL	A	A	-													aattaaattaaataacttacAaaaaaaatagtgcaggtaac							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:169182015_169182015CA>C	uc003irp.3	-	25	3690	c.3398_splice	c.e25+1	p.L1133_splice		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1133							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AAATAACTTACAAAAAAAATA	0.388													-	169182016	A	-	169182016	8	5	98	1	0	1	0	1	0	0	1	0	4378	144	5	0	1796	0	DDX60	4	169182016	Splice_Site	DEL	A	TCGA-BR-8591-01A-11D-2394-08	8231	169182016	21972260	457	64787											
NEK1	4750	broad.mit.edu	37	chr4	170400581	170400581	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttctttcaaagctgaagtTacagaaataacagatctcat	5	8	3	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:170400581T>C	uc003isb.1	-	22	2520	c.2028A>G	c.(2026-2028)GTA>GTG	p.V676V	NEK1_uc003isc.1_Silent_p.V632V|NEK1_uc003isd.1_Silent_p.V704V|NEK1_uc003ise.1_Silent_p.V660V|NEK1_uc003isf.1_Silent_p.V607V	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	676					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(3)|ovary(2)|large_intestine(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AAGCTGAAGTTACAGAAATAA	0.363													C	170400581	T	C	170400581	2	2	98	1	0	0	0	0	0	0	0	1	10321	1741	61	3		3	NEK1	4	170400581	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1218565	170400581	20753695	458	64788											
FAT1	2195	broad.mit.edu	37	chr4	187509968	187509968	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggcgggtaaggggcatgGggttctctacaagtactatt	14	8	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:187509968G>T	uc003izf.2	-	27	13733	c.13545C>A	c.(13543-13545)CCC>CCA	p.P4515P	FAT1_uc010isn.2_Silent_p.P162P|FAT1_uc003ize.2_Silent_p.P406P	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4515	Cytoplasmic (Potential).				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						AAGGGGCATGGGGTTCTCTAC	0.517										HNSCC(5;0.00058)			T	187509968	G	T	187509968	2	4	98	1	0	0	0	0	0	0	0	1	5689	1219	43	5		5	FAT1	4	187509968	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	17109387	187509968	3644308	459	64789											
TRIML2	205860	broad.mit.edu	37	chr4	189020263	189020263	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttaggaggctgcggacctGttcagaagccctggcttcac	12	12	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:189020263G>T	uc003izl.2	-	4	433	c.397C>A	c.(397-399)CAG>AAG	p.Q133K	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Missense_Mutation_p.Q183K|TRIML2_uc011clf.1_Missense_Mutation_p.Q183K	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	133	Potential.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTGCGGACCTGTTCAGAAGCC	0.488													T	189020263	G	T	189020263	3	4	98	1	0	0	0	0	1	0	0	0	16548	1386	48	5	782	5	TRIML2	4	189020263	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1510295	189020263	2134013	460	64790											
TRIML1	339976	broad.mit.edu	37	chr4	189061099	189061099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagagtgcatctctccagCgaggctgaggagcatcacag	12	11	2	2	rs138508820		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:189061099C>T	uc003izm.1	+	1	502	c.387C>T	c.(385-387)AGC>AGT	p.S129S		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	129					multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ATCTCTCCAGCGAGGCTGAGG	0.577													T	189061099	C	T	189061099	2	4	98	1	0	0	0	0	0	0	0	1	16547	767	27	1		1	TRIML1	4	189061099	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	40836	189061099	2093177	461	64791											
SLC9A3	6550	broad.mit.edu	37	chr5	477515	477515	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacgttgaccacgttgtcGgtgctgggggagcggatgaa	16	9	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:477515G>A	uc003jbe.2	-	11	1804	c.1692C>T	c.(1690-1692)ACC>ACT	p.T564T	SLC9A3_uc011clx.1_Silent_p.T555T|uc011cly.1_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	564	Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCACGTTGTCGGTGCTGGGGG	0.652													A	477515	G	A	477515	2	1	98	1	0	0	0	0	0	0	0	1	14713	1103	39	1		1	SLC9A3	5	477515	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08		477515	180437745	462	64792											
ZDHHC11	79844	broad.mit.edu	37	chr5	843740	843740	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctggggtccgtgcggagCaccccggggttcacgaggta	16	12	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:843740C>T	uc011cma.1	-	4	987	c.603G>A	c.(601-603)GTG>GTA	p.V201V	ZDHHC11_uc003jbj.2_RNA|ZDHHC11_uc010itd.1_5'Flank|ZDHHC11_uc003jbk.2_5'UTR	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	201						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)|pancreas(1)	2			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CCGTGCGGAGCACCCCGGGGT	0.637													T	843740	C	T	843740	2	4	98	1	0	0	0	0	0	0	0	1	17598	697	25	2		2	ZDHHC11	5	843740	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	366225	843740	180071520	463	64793											
SLC12A7	10723	broad.mit.edu	37	chr5	1085356	1085357	+	Frame_Shift_Ins	INS	-	-	G													cgagactcacgggatgtccgINSgggggtcgaaggcagacttg					rs144700376		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:1085355_1085356C>CG	uc003jbu.3	-	6	974_975	c.908_909G>CG	c.(907-909)ccgfs	p.P303fs		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	303					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	p.P302P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACGGGATGTCCGGGGGGTCGAA	0.649													G	1085357	-	G	1085356	7	5	98	1	0	1	1	0	0	0	0	0	14388	1116	39	0	2415	0	SLC12A7	5	1085356	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	241616	1085356	179829904	464	64794											
SLC6A19	340024	broad.mit.edu	37	chr5	1216926	1216926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcctgaccctcatcaacGggttcgacctgcctgaaggc	9	15	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:1216926G>A	uc003jbw.3	+	8	1095	c.1039G>A	c.(1039-1041)GGG>AGG	p.G347R		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	347	Extracellular (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCTCATCAACGGGTTCGACCT	0.652													A	1216926	G	A	1216926	3	1	98	1	0	0	0	0	1	0	0	0	14682	1116	39	1	1069	1	SLC6A19	5	1216926	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	131570	1216926	179698334	465	64795											
MARCH6	10299	broad.mit.edu	37	chr5	10391770	10391770	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatgaccaggcagaagaGgaggaggaggacaatgagga	18	5	0	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:10391770G>A	uc003jet.1	+	7	876	c.693G>A	c.(691-693)GAG>GAA	p.E231E	MARCH6_uc011cmu.1_Silent_p.E183E|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Silent_p.E126E	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	231	Cytoplasmic (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						aggcagaagaggaggaggagg	0.428													A	10391770	G	A	10391770	2	1	98	1	0	0	0	0	0	0	0	1	9305	991	35	4		4	MARCH6	5	10391770	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	9174844	10391770	170523490	466	64796											
DNAH5	1767	broad.mit.edu	37	chr5	13701409	13701410	+	Frame_Shift_Ins	INS	-	-	A													tacctgtcgcattgcagttaINSaaaatccctgggggttaaaa							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:13701408_13701409T>TA	uc003jfd.2	-	76	13517_13518	c.13475_13476A>TA	c.(13474-13476)ttafs	p.L4492fs	DNAH5_uc003jfc.2_Frame_Shift_Ins_p.L660fs	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4492					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCATTGCAGTTAAAAATCCCTG	0.396									Kartagener syndrome				A	13701410	-	A	13701409	7	5	98	1	0	1	1	0	0	0	0	0	4604	372	13	0	411	0	DNAH5	5	13701409	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	3309639	13701409	167213851	467	64797											
FBXL7	23194	broad.mit.edu	37	chr5	15928451	15928451	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaaaccgtaactgtcAgtggctgcaggcggctcaca	13	11	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:15928451A>G	uc003jfn.1	+	3	1061	c.580A>G	c.(580-582)AGT>GGT	p.S194G		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	194	LRR 1.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						CGTAACTGTCAGTGGCTGCAG	0.607													G	15928451	A	G	15928451	3	3	98	1	0	0	0	0	1	0	0	0	5724	188	7	3	590	3	FBXL7	5	15928451	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	2227042	15928451	164986809	468	64798											
CDH12	1010	broad.mit.edu	37	chr5	21783501	21783501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attatggagaaattatactgCgcagtgctttctctgtctag	9	7	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:21783501C>T	uc010iuc.2	-	8	1817	c.1359G>A	c.(1357-1359)GCG>GCA	p.A453A	CDH12_uc011cno.1_Silent_p.A413A|CDH12_uc003jgk.2_Silent_p.A453A	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	453	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						AATTATACTGCGCAGTGCTTT	0.373										HNSCC(59;0.17)			T	21783501	C	T	21783501	2	4	98	1	0	0	0	0	0	0	0	1	3098	755	27	1		1	CDH12	5	21783501	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	5855050	21783501	159131759	469	64799											
CDH10	1008	broad.mit.edu	37	chr5	24487827	24487827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgctagcttattaaacCgagggccccattctcggagg	10	11	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:24487827C>T	uc003jgr.1	-	12	2644	c.2312G>A	c.(2311-2313)CGG>CAG	p.R771Q	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	771	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		CTTATTAAACCGAGGGCCCCA	0.408										HNSCC(23;0.051)			T	24487827	C	T	24487827	3	4	98	1	0	0	0	0	1	0	0	0	3096	652	23	1	58	1	CDH10	5	24487827	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2704326	24487827	156427433	470	64800											
CDH10	1008	broad.mit.edu	37	chr5	24509853	24509853	+	Frame_Shift_Del	DEL	A	A	-													tttaaatggtcctaggtaatAaaaacggggatctacatggg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:24509852_24509852TA>T	uc003jgr.2	-	6	1585	c.1079_1079TA>A	c.(1078-1080)tatfs	p.Y360fs	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	360	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCCTAGGTAATAAAAACGGGG	0.368										HNSCC(23;0.051)			-	24509853	A	-	24509853	7	5	98	1	0	1	0	1	0	0	0	0	3096	362	13	0	1312	0	CDH10	5	24509853	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	22026	24509853	156405407	471	64801											
CDH6	1004	broad.mit.edu	37	chr5	31317806	31317806	+	Frame_Shift_Del	DEL	A	A	-													cggcgggaatcttaactcggAaaaatggctataatagacac							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:31317805_31317805GA>G	uc003jhe.2	+	10	2016	c.1656_1656GA>G	c.(1654-1656)cggfs	p.R552fs	CDH6_uc003jhd.2_Frame_Shift_Del_p.R552fs	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	552	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCTTAACTCGGAAAAATGGCT	0.443													-	31317806	A	-	31317806	7	5	98	1	0	1	0	1	0	0	0	0	3114	247	9	0	1695	0	CDH6	5	31317806	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	6807953	31317806	149597454	472	64802											
TARS	6897	broad.mit.edu	37	chr5	33461072	33461072	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggctagctgattttggggTacttcataggaacgagctgt	14	7	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:33461072T>C	uc003jhy.2	+	12	1611	c.1316T>C	c.(1315-1317)GTA>GCA	p.V439A	TARS_uc011cob.1_Missense_Mutation_p.V427A|TARS_uc010iup.1_Missense_Mutation_p.V380A|TARS_uc011coc.1_Missense_Mutation_p.V460A|TARS_uc003jhz.2_Missense_Mutation_p.V335A|TARS_uc011cod.1_Missense_Mutation_p.V318A	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	439				V -> G (in Ref. 1; AAB04939).	threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)	GATTTTGGGGTACTTCATAGG	0.502													C	33461072	T	C	33461072	3	2	98	1	0	0	0	0	1	0	0	0	15556	1638	57	3	1362	3	TARS	5	33461072	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	2143266	33461072	147454188	473	64803											
SPEF2	79925	broad.mit.edu	37	chr5	35659271	35659271	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaacaacatgaggaaagaCgacttaaagatttccaggat	8	6	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:35659271C>T	uc003jjo.2	+	8	1240	c.1129C>T	c.(1129-1131)CGA>TGA	p.R377*	SPEF2_uc003jjn.1_Nonsense_Mutation_p.R377*|SPEF2_uc003jjq.3_Nonsense_Mutation_p.R377*	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	377	Potential.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGGAAAGACGACTTAAAGA	0.408													T	35659271	C	T	35659271	4	4	98	1	0	0	0	0	0	1	0	0	15034	528	19	1	1159	1	SPEF2	5	35659271	Nonsense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2198199	35659271	145255989	474	64804											
NNT	23530	broad.mit.edu	37	chr5	43619173	43619173	+	Frame_Shift_Del	DEL	T	T	-													gcagcaaatcattttggacgTttttttactggtcagatcac							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:43619172_43619172GT>G	uc003joe.3	+	4	893	c.638_638GT>G	c.(637-639)cgtfs	p.R213fs	NNT_uc003jof.3_Frame_Shift_Del_p.R213fs	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	213					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CATTTTGGACGTTTTTTTACT	0.313													-	43619173	T	-	43619173	7	5	98	1	0	1	0	1	0	0	0	0	10510	1712	60	0	653	0	NNT	5	43619173	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	7959902	43619173	137296087	475	64805											
ITGA2	3673	broad.mit.edu	37	chr5	52358665	52358666	+	Frame_Shift_Del	DEL	AC	AC	-													ttcagttgatgtggataaagAcaccattacagacgtgctct							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:52358664_52358665GAC>G	uc003joy.3	+	12	1650_1651	c.1507_1508GAC>G	c.(1507-1509)gacfs	p.D503fs	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Frame_Shift_Del_p.D427fs|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	503					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGTGGATAAAGACACCATTACA	0.381													-	52358666	AC	-	52358665	7	5	98	1	0	1	0	1	0	0	0	0	7875	275	10	0	1558	0	ITGA2	5	52358665	Frame_Shift_Del	DEL	AC	TCGA-BR-8591-01A-11D-2394-08	8739492	52358665	128556595	476	64806											
ITGA2	3673	broad.mit.edu	37	chr5	52379218	52379218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctgctggttgaaagacGttcacatgaaaggagaatac	10	7	1	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:52379218G>A	uc003joy.2	+	27	3336	c.3193G>A	c.(3193-3195)GTT>ATT	p.V1065I	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.V989I|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	1065	Extracellular (Potential).				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GTTGAAAGACGTTCACATGAA	0.348													A	52379218	G	A	52379218	3	1	98	1	0	0	0	0	1	0	0	0	7875	1145	40	1	3299	1	ITGA2	5	52379218	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	20553	52379218	128536042	477	64807											
SKIV2L2	23517	broad.mit.edu	37	chr5	54711853	54711853	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccaaattggaaattgatgAggaaacttatctaagctcat	8	6	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:54711853A>G	uc003jpy.3	+	25	3130	c.2864A>G	c.(2863-2865)GAG>GGG	p.E955G	SKIV2L2_uc011cqi.1_Missense_Mutation_p.E854G	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	955					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)|skin(1)	2		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GAAATTGATGAGGAAACTTAT	0.348													G	54711853	A	G	54711853	3	3	98	1	0	0	0	0	1	0	0	0	14360	304	11	3	2962	3	SKIV2L2	5	54711853	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	2332635	54711853	126203407	478	64808											
PPWD1	23398	broad.mit.edu	37	chr5	64865507	64865507	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatggacatgtcaagttctgGaaaaaaatagaagagggaat	12	3	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:64865507G>A	uc003jtv.3	+	3	355	c.348G>A	c.(346-348)TGG>TGA	p.W116*	PPWD1_uc011cqv.1_Nonsense_Mutation_p.W86*|PPWD1_uc011cqw.1_5'UTR	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat	116	WD 1.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TCAAGTTCTGGAAAAAAATAG	0.318													A	64865507	G	A	64865507	4	1	98	1	0	0	0	0	0	1	0	0	12414	1183	41	4	358	4	PPWD1	5	64865507	Nonsense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	10153654	64865507	116049753	479	64809											
OCLN	4950	broad.mit.edu	37	chr5	68800096	68800096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catccaggcctcttgaaagtCcacctccttacaggcctgat	7	15	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:68800096C>T	uc003jwu.2	+	2	461	c.25C>T	c.(25-27)CCA>TCA	p.P9S	OCLN_uc003jwv.3_Missense_Mutation_p.P9S	NM_002538	NP_002529			occludin												0		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TCTTGAAAGTCCACCTCCTTA	0.368													T	68800096	C	T	68800096	3	4	98	1	0	0	0	0	1	0	0	0	10820	855	30	4	27	4	OCLN	5	68800096	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3934589	68800096	112115164	480	64810											
BDP1	55814	broad.mit.edu	37	chr5	70785231	70785231	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaatttctcttgttttcagTgaaaaaagttgcctgtgaag	9	5	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:70785231T>C	uc003kbp.1	+	10	1477	c.1214T>C	c.(1213-1215)GTG>GCG	p.V405A	BDP1_uc003kbn.1_Missense_Mutation_p.V405A|BDP1_uc003kbo.2_Missense_Mutation_p.V405A	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	405	Required for phosphorylation by CSNK2A1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTGTTTTCAGTGAAAAAAGTT	0.333													C	70785231	T	C	70785231	3	2	98	1	0	0	0	0	1	0	0	0	1395	1710	59	3	1252	3	BDP1	5	70785231	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1985135	70785231	110130029	481	64811											
BDP1	55814	broad.mit.edu	37	chr5	70805906	70805906	+	Frame_Shift_Del	DEL	A	A	-													aagaaaaatatccccaagggAaaatggcccagaggaggtca							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:70805905_70805905GA>G	uc003kbp.1	+	16	3249	c.2986_2986GA>G	c.(2986-2988)gaafs	p.E996fs	BDP1_uc003kbn.1_Frame_Shift_Del_p.E996fs|BDP1_uc003kbo.3_Frame_Shift_Del_p.E996fs	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	996	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATCCCCAAGGGAAAATGGCCC	0.463													-	70805906	A	-	70805906	7	5	98	1	0	1	0	1	0	0	0	0	1395	246	9	0	3053	0	BDP1	5	70805906	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	20675	70805906	110109354	482	64812											
BDP1	55814	broad.mit.edu	37	chr5	70811960	70811960	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actgctcgacaagtaaggggCcgacttcagagaccgagacc	12	12	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:70811960C>G	uc003kbp.1	+	21	4985	c.4722C>G	c.(4720-4722)GGC>GGG	p.G1574G	BDP1_uc003kbo.2_Silent_p.G1574G	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1574					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGTAAGGGGCCGACTTCAGA	0.423													G	70811960	C	G	70811960	2	3	98	1	0	0	0	0	0	0	0	1	1395	726	26	5		5	BDP1	5	70811960	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	6054	70811960	110103300	483	64813											
MCCC2	64087	broad.mit.edu	37	chr5	70944923	70944923	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctttctgatctttctctcaGgatttatggttggtagagag	10	6	5	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:70944923G>T	uc003kbs.3	+	14	1355	c.1217_splice	c.e14-1	p.G406_splice	MCCC2_uc003kbt.3_Splice_Site	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 2 (beta)						leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)	1		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CTTTCTCTCAGGATTTATGGT	0.458													T	70944923	G	T	70944923	5	4	98	1	0	0	0	0	0	0	1	0	9375	1014	35	5	1270	5	MCCC2	5	70944923	Splice_Site	SNP	G	TCGA-BR-8591-01A-11D-2394-08	132963	70944923	109970337	484	64814											
ENC1	8507	broad.mit.edu	37	chr5	73931829	73931829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagttcgtacagcttggtgCactggtgtgcatcagacagc	12	9	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:73931829C>T	uc003kdc.3	-	2	1613	c.482G>A	c.(481-483)TGC>TAC	p.C161Y	ENC1_uc011css.1_Missense_Mutation_p.C88Y	NM_003633	NP_003624	O14682	ENC1_HUMAN	ectodermal-neural cortex (with BTB-like domain)	161					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			ovary(1)|pancreas(1)|skin(1)	3		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CAGCTTGGTGCACTGGTGTGC	0.512													T	73931829	C	T	73931829	3	4	98	1	0	0	0	0	1	0	0	0	5113	710	25	2	1291	2	ENC1	5	73931829	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2986906	73931829	106983431	485	64815											
THBS4	7060	broad.mit.edu	37	chr5	79375873	79375873	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcctaccgctggttcctacAgcacaggccccaggtgggct	12	15	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:79375873A>G	uc003kgh.2	+	21	2980	c.2657A>G	c.(2656-2658)CAG>CGG	p.Q886R	uc003kgi.3_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	886	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TGGTTCCTACAGCACAGGCCC	0.582													G	79375873	A	G	79375873	3	3	98	1	0	0	0	0	1	0	0	0	15853	188	7	3	2735	3	THBS4	5	79375873	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	5444044	79375873	101539387	486	64816											
VCAN	1462	broad.mit.edu	37	chr5	82837118	82837118	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcttttcagccagaattcTcttcaggagctgaggaggca	10	10	4	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:82837118T>C	uc003kii.3	+	8	8652	c.8296T>C	c.(8296-8298)TCT>CCT	p.S2766P	VCAN_uc003kij.3_Missense_Mutation_p.S1779P|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.S1430P	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2766	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GCCAGAATTCTCTTCAGGAGC	0.428													C	82837118	T	C	82837118	3	2	98	1	0	0	0	0	1	0	0	0	17135	1551	54	3	8322	3	VCAN	5	82837118	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	3461245	82837118	98078142	487	64817											
HAPLN1	1404	broad.mit.edu	37	chr5	82948392	82948392	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagaagcatcactatcacTgcctcccttcagaaacactc	5	15	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:82948392T>G	uc003kim.2	-	2	423	c.352A>C	c.(352-354)AGT>CGT	p.S118R	HAPLN1_uc003kin.2_Missense_Mutation_p.S118R	NM_001884	NP_001875	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	118	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			large_intestine(3)|ovary(1)|skin(1)	5		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TCACTATCACTGCCTCCCTTC	0.428													G	82948392	T	G	82948392	3	3	98	1	0	0	0	0	1	0	0	0	6954	1580	55	5	724	5	HAPLN1	5	82948392	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	111274	82948392	97966868	488	64818											
RGMB	285704	broad.mit.edu	37	chr5	98128867	98128867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacagatgacctgccggccGcctttgtggatggcaccacc	12	14	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:98128867G>A	uc003knc.2	+	5	1249	c.847G>A	c.(847-849)GCC>ACC	p.A283T		NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	RGM domain family, member B	242					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding				0		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CCTGCCGGCCGCCTTTGTGGA	0.542													A	98128867	G	A	98128867	3	1	98	1	0	0	0	0	1	0	0	0	13281	1087	38	1	861	1	RGMB	5	98128867	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	15180475	98128867	82786393	489	64819											
EPB41L4A	64097	broad.mit.edu	37	chr5	111540160	111540160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaactttggcgacttagtgcGatcactgggagaattgtaga	13	6	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:111540160G>A	uc003kpv.1	-	15	1562	c.1288C>T	c.(1288-1290)CGC>TGC	p.R430C	EPB41L4A_uc003kpp.1_Missense_Mutation_p.R57C	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	430						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GACTTAGTGCGATCACTGGGA	0.512													A	111540160	G	A	111540160	3	1	98	1	0	0	0	0	1	0	0	0	5155	1058	37	1	808	1	EPB41L4A	5	111540160	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	13411293	111540160	69375100	490	64820											
ALDH7A1	501	broad.mit.edu	37	chr5	125903997	125903997	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgttttcccacctgagtGctcccagtgaaggacagcag	10	13	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:125903997G>A	uc003ktx.2	-	9	1017	c.825C>T	c.(823-825)AGC>AGT	p.S275S	ALDH7A1_uc003kty.2_RNA|ALDH7A1_uc011cxa.1_Silent_p.S302S|ALDH7A1_uc003ktz.2_Silent_p.S302S	NM_001182	NP_001173	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	275	NAD (By similarity).				cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			kidney(2)|ovary(1)	3		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	CCACCTGAGTGCTCCCAGTGA	0.502													A	125903997	G	A	125903997	2	1	98	1	0	0	0	0	0	0	0	1	504	1310	46	2		2	ALDH7A1	5	125903997	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	14363837	125903997	55011263	491	64821											
LMNB1	4001	broad.mit.edu	37	chr5	126168434	126168436	+	In_Frame_Del	DEL	GAG	GAG	-													aaacaaccatacctgaagaaGaggaggaggaggaagaagca							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:126168433_126168435AGAG>A	uc003kud.2	+	9	2545_2547	c.1659_1661AGAG>A	c.(1657-1662)gaagag>gaAg	p.553_554EE>E	LMNB1_uc010jdb.2_Non-coding_Transcript|LMNB1_uc011cxb.2_In_Frame_Del_p.343_344EE>E	NM_005573	NP_001185486	P20700	LMNB1_HUMAN	Homo sapiens lamin B1 (LMNB1), transcript variant 1, mRNA.	553	Glu-rich (highly acidic; could be involved in chromatin binding).|Tail.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		TACCTGAAGAAGAGGAGGAGGAG	0.33													-	126168436	GAG	-	126168434	7	5	98	1	0	1	0	1	0	0	0	0	8849	943	33	0	1698	0	LMNB1	5	126168434	In_Frame_Del	DEL	GAG	TCGA-BR-8591-01A-11D-2394-08	264437	126168434	54746826	492	64822											
FBN2	2201	broad.mit.edu	37	chr5	127595417	127595417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgaggggctggatggcGggccttagttccaggatgtg	18	6	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:127595417G>A	uc003kuu.2	-	65	8908	c.8469C>T	c.(8467-8469)CCC>CCT	p.P2823P		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2823					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCTGGATGGCGGGCCTTAGTT	0.542													A	127595417	G	A	127595417	2	1	98	1	0	0	0	0	0	0	0	1	5703	1103	39	1		1	FBN2	5	127595417	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1426983	127595417	53319843	493	64823											
FBN2	2201	broad.mit.edu	37	chr5	127714547	127714547	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caggtgtgttaacacaatctCcattagtgcagggatttgat	10	7	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:127714547C>A	uc003kuu.2	-	12	2079	c.1640G>T	c.(1639-1641)GGA>GTA	p.G547V	FBN2_uc003kuv.2_Missense_Mutation_p.G514V	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	547	EGF-like 7; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AACACAATCTCCATTAGTGCA	0.388													A	127714547	C	A	127714547	3	1	98	1	0	0	0	0	1	0	0	0	5703	855	30	5	7314	5	FBN2	5	127714547	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	119130	127714547	53200713	494	64824											
RAPGEF6	51735	broad.mit.edu	37	chr5	130825260	130825260	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatgttggtcttcacagTaagtgcaagatgagtattat	9	4	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:130825260T>C	uc003kvn.1	-	15	2025	c.1819A>G	c.(1819-1821)ACT>GCT	p.T607A	RAPGEF6_uc003kvp.1_Missense_Mutation_p.T657A|RAPGEF6_uc003kvo.1_Missense_Mutation_p.T607A|RAPGEF6_uc010jdi.1_Missense_Mutation_p.T607A|RAPGEF6_uc010jdj.1_Missense_Mutation_p.T607A|RAPGEF6_uc003kvq.2_Missense_Mutation_p.T324A|RAPGEF6_uc003kvr.2_Missense_Mutation_p.T607A|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.T607A	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	607	PDZ.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GTCTTCACAGTAAGTGCAAGA	0.294													C	130825260	T	C	130825260	3	2	98	1	0	0	0	0	1	0	0	0	13048	1638	57	3	3528	3	RAPGEF6	5	130825260	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	3110713	130825260	50090000	495	64825											
CDKL3	51265	broad.mit.edu	37	chr5	133541779	133541779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacagacagtaactggacatCgaacctcttgcacgttggat	9	11	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:133541779C>T	uc011cxm.1	-	10	1271	c.1184G>A	c.(1183-1185)CGA>CAA	p.R395Q	CDKL3_uc011cxn.1_RNA|PPP2CA_uc003kze.2_Missense_Mutation_p.R49Q	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3 isoform 1	588						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AACTGGACATCGAACCTCTTG	0.373													T	133541779	C	T	133541779	3	4	98	1	0	0	0	0	1	0	0	0	3155	884	31	1		1	CDKL3	5	133541779	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2716519	133541779	47373481	496	64826											
SEC24A	10802	broad.mit.edu	37	chr5	133997147	133997147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatataactatccatccacaGcctcacaaacaaaccattgt	2	13	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:133997147G>A	uc003kzs.2	+	2	724	c.436G>A	c.(436-438)GCC>ACC	p.A146T	SEC24A_uc011cxu.1_5'UTR	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	146	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCATCCACAGCCTCACAAAC	0.423													A	133997147	G	A	133997147	3	1	98	1	0	0	0	0	1	0	0	0	13994	971	34	2	442	2	SEC24A	5	133997147	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	455368	133997147	46918113	497	64827											
LOC153328	153328	broad.mit.edu	37	chr5	135188361	135188361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggttcctcagccagcaccGctgcggggagccagaggcca	15	15	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:135188361G>A	uc003laz.1	+	4	444	c.272G>A	c.(271-273)CGC>CAC	p.R91H	LOC153328_uc003lba.2_Missense_Mutation_p.R91H			Q6ZT89	S2548_HUMAN	RecName: Full=Putative mitochondrial carrier protein FLJ44862;	91					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCCAGCACCGCTGCGGGGAG	0.657													A	135188361	G	A	135188361	3	1	98	1	0	0	0	0	1	0	0	0	8871	1087	38	1	286	1	LOC153328	5	135188361	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1191214	135188361	45726899	498	64828											
BRD8	10902	broad.mit.edu	37	chr5	137507779	137507779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagaaccagtctggagggCggccaggttctgcaaagggc	17	9	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:137507779C>T	uc003lcf.1	-	3	216	c.161G>A	c.(160-162)CGC>CAC	p.R54H	BRD8_uc003lcc.1_RNA|BRD8_uc003lcg.2_Missense_Mutation_p.R54H|BRD8_uc003lci.2_Missense_Mutation_p.R54H|BRD8_uc003lch.2_5'UTR|BRD8_uc011cym.1_Missense_Mutation_p.R38H|BRD8_uc010jer.1_Missense_Mutation_p.R23H|BRD8_uc011cyn.1_Intron|BRD8_uc010jes.1_Intron	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	54					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTCTGGAGGGCGGCCAGGTTC	0.453													T	137507779	C	T	137507779	3	4	98	1	0	0	0	0	1	0	0	0	1506	768	27	1	3933	1	BRD8	5	137507779	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2319418	137507779	43407481	499	64829											
PSD2	84249	broad.mit.edu	37	chr5	139217239	139217239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctgacaaagctctatcGgagggtgacctgaagaacgc	13	10	1	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:139217239G>A	uc003leu.1	+	12	1900	c.1695G>A	c.(1693-1695)TCG>TCA	p.S565S		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	565	PH.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCTCTATCGGAGGGTGACC	0.597													A	139217239	G	A	139217239	2	1	98	1	0	0	0	0	0	0	0	1	12647	1103	39	1		1	PSD2	5	139217239	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1709460	139217239	41698021	500	64830											
NRG2	9542	broad.mit.edu	37	chr5	139260469	139260469	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtaaagccggccccggacGgtgtccttccccaggatgtt	12	14	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:139260469G>A	uc003lex.1	-	3	1188	c.963C>T	c.(961-963)ACC>ACT	p.T321T	NRG2_uc003lev.1_Silent_p.T321T|NRG2_uc003lew.1_Silent_p.T321T|NRG2_uc003ley.1_Silent_p.T321T	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	321	Ig-like C2-type.|Extracellular (Potential).				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|breast(2)|ovary(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCCCGGACGGTGTCCTTCC	0.622													A	139260469	G	A	139260469	2	1	98	1	0	0	0	0	0	0	0	1	10648	1103	39	1		1	NRG2	5	139260469	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	43230	139260469	41654791	501	64831											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139905605	139905605	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcaagaagttcccatagaacCtcctagtgcaaccaccacca	6	15	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:139905605C>G	uc003lfs.1	+	26	4641	c.4517C>G	c.(4516-4518)CCT>CGT	p.P1506R	ANKHD1_uc003lfr.2_Missense_Mutation_p.P1506R|ANKHD1_uc003lfu.1_Missense_Mutation_p.P986R|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.P245R|ANKHD1_uc003lfw.2_Missense_Mutation_p.P144R|ANKHD1_uc010jfl.2_5'UTR|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1506						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCATAGAACCTCCTAGTGCA	0.383													G	139905605	C	G	139905605	3	3	98	1	0	0	0	0	1	0	0	0	629	681	24	5	4619	5	ANKHD1-EIF4EBP3	5	139905605	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	645136	139905605	41009655	502	64832											
HARS	3035	broad.mit.edu	37	chr5	140056939	140056939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacatagtccccaatgcGgtcagccacctcaggtgcaa	10	14	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140056939G>A	uc003lgv.2	-	8	878	c.796C>T	c.(796-798)CGC>TGC	p.R266C	HARS_uc003lgu.2_Missense_Mutation_p.R197C|HARS_uc011czm.1_Missense_Mutation_p.R226C|HARS_uc003lgw.2_Missense_Mutation_p.R246C|HARS_uc011czn.1_Missense_Mutation_p.R206C|HARS_uc010jfu.2_Missense_Mutation_p.R266C|HARS_uc011czo.1_Missense_Mutation_p.R192C|HARS_uc011czp.1_Missense_Mutation_p.R152C|HARS_uc011czq.1_Missense_Mutation_p.R156C	NM_002109	NP_002100	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	266					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TCCCCAATGCGGTCAGCCACC	0.572													A	140056939	G	A	140056939	3	1	98	1	0	0	0	0	1	0	0	0	6959	1116	39	1	757	1	HARS	5	140056939	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	151334	140056939	40858321	503	64833											
PCDHA1	56147	broad.mit.edu	37	chr5	140167397	140167397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcgcgctgtcgaactacGtgtcagtgcacgcggagagc	15	12	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140167397G>A	uc003lhb.2	+	1	1522	c.1522G>A	c.(1522-1524)GTG>ATG	p.V508M	PCDHA1_uc003lha.2_Missense_Mutation_p.V508M|PCDHA1_uc003lgz.2_Missense_Mutation_p.V508M	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	508	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCGAACTACGTGTCAGTGCA	0.687													A	140167397	G	A	140167397	3	1	98	1	0	0	0	0	1	0	0	0	11519	1145	40	1	1524	1	PCDHA1	5	140167397	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	110458	140167397	40747863	504	64834											
PCDHA2	56146	broad.mit.edu	37	chr5	140176708	140176708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggtgctgctgtacactgCgctgcggtgctcggtgccac	14	14	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140176708C>T	uc003lhd.2	+	1	2265	c.2159C>T	c.(2158-2160)GCG>GTG	p.A720V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A720V|PCDHA2_uc011czy.1_Missense_Mutation_p.A720V	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	720	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTACACTGCGCTGCGGTGC	0.662													T	140176708	C	T	140176708	3	4	98	1	0	0	0	0	1	0	0	0	11524	768	27	1	2161	1	PCDHA2	5	140176708	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	9311	140176708	40738552	505	64835											
PCDHA3	56145	broad.mit.edu	37	chr5	140182372	140182372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccacgaggagctagagctGctgcagttccaggtgagtgc	15	10	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140182372G>A	uc003lhf.2	+	1	1590	c.1590G>A	c.(1588-1590)CTG>CTA	p.L530L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.L530L	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	530	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTAGAGCTGCTGCAGTTCC	0.692													A	140182372	G	A	140182372	2	1	98	1	0	0	0	0	0	0	0	1	11525	1306	46	2		2	PCDHA3	5	140182372	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	5664	140182372	40732888	506	64836											
PCDHA7	56141	broad.mit.edu	37	chr5	140215088	140215088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcatcacattgattagcGtgtttgaccgagattttgga	10	8	2	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140215088G>A	uc003lhq.2	+	1	1120	c.1120G>A	c.(1120-1122)GTG>ATG	p.V374M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.V374M	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	374	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGATTAGCGTGTTTGACCG	0.493													A	140215088	G	A	140215088	3	1	98	1	0	0	0	0	1	0	0	0	11529	1145	40	1	1122	1	PCDHA7	5	140215088	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	32716	140215088	40700172	507	64837											
PCDHA13	56136	broad.mit.edu	37	chr5	140262306	140262306	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctagacctccggaaactcgAtttccactagatggcgcatc	8	13	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140262306A>G	uc003lif.2	+	1	453	c.453A>G	c.(451-453)CGA>CGG	p.R151R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.R151R|PCDHA13_uc003lid.2_Silent_p.R151R	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	151	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAAACTCGATTTCCACTAG	0.463													G	140262306	A	G	140262306	2	3	98	1	0	0	0	0	0	0	0	1	11523	320	12	3		3	PCDHA13	5	140262306	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	47218	140262306	40652954	508	64838											
PCDHA13	56136	broad.mit.edu	37	chr5	140263716	140263716	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtcggcgcgcgcatcccGttccgcgtggggctgtacac	16	15	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140263716G>A	uc003lif.2	+	1	1863	c.1863G>A	c.(1861-1863)CCG>CCA	p.P621P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.P621P|PCDHA13_uc003lid.2_Silent_p.P621P	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	621	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCATCCCGTTCCGCGTGG	0.682													A	140263716	G	A	140263716	2	1	98	1	0	0	0	0	0	0	0	1	11523	1132	40	1		1	PCDHA13	5	140263716	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1410	140263716	40651544	509	64839											
PCDHB3	56132	broad.mit.edu	37	chr5	140482221	140482221	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgctgcatgtgctcctggTggacggcttctcccagccct	11	16	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140482221T>C	uc003lio.2	+	1	1988	c.1988T>C	c.(1987-1989)GTG>GCG	p.V663A	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	663	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCTCCTGGTGGACGGCTTC	0.701													C	140482221	T	C	140482221	3	2	98	1	0	0	0	0	1	0	0	0	11543	1696	59	3	1990	3	PCDHB3	5	140482221	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	218505	140482221	40433039	510	64840											
PCDHB5	26167	broad.mit.edu	37	chr5	140516339	140516339	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacataacggtcctggtctcCgacgtcaatgacaacgcccc	8	15	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140516339C>T	uc003liq.2	+	1	1540	c.1323C>T	c.(1321-1323)TCC>TCT	p.S441S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	441	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGGTCTCCGACGTCAATG	0.587													T	140516339	C	T	140516339	2	4	98	1	0	0	0	0	0	0	0	1	11545	639	23	1		1	PCDHB5	5	140516339	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	34118	140516339	40398921	511	64841											
PCDHB5	26167	broad.mit.edu	37	chr5	140516436	140516436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacatcggcagtgtcagcGccacagacagagactcaggc	12	13	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140516436G>A	uc003liq.2	+	1	1637	c.1420G>A	c.(1420-1422)GCC>ACC	p.A474T		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	474	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGTGTCAGCGCCACAGACAG	0.642													A	140516436	G	A	140516436	3	1	98	1	0	0	0	0	1	0	0	0	11545	1087	38	1	1422	1	PCDHB5	5	140516436	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	97	140516436	40398824	512	64842											
PCDHB6	56130	broad.mit.edu	37	chr5	140530736	140530736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgcaatcacaggagaaattCggctgagaaaggctttggat	12	7	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140530736C>T	uc003lir.2	+	1	898	c.898C>T	c.(898-900)CGG>TGG	p.R300W	PCDHB6_uc011dah.1_Missense_Mutation_p.R164W	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	300	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGAAATTCGGCTGAGAAA	0.443													T	140530736	C	T	140530736	3	4	98	1	0	0	0	0	1	0	0	0	11546	875	31	1	900	1	PCDHB6	5	140530736	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	14300	140530736	40384524	513	64843											
PCDHB6	56130	broad.mit.edu	37	chr5	140531711	140531711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatggcgaggtgcgcaccGccaggctgctgagcgagcga	16	12	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140531711G>A	uc003lir.2	+	1	1873	c.1873G>A	c.(1873-1875)GCC>ACC	p.A625T	PCDHB6_uc011dah.1_Missense_Mutation_p.A489T	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	625	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCGCACCGCCAGGCTGCT	0.687													A	140531711	G	A	140531711	3	1	98	1	0	0	0	0	1	0	0	0	11546	1087	38	1	1875	1	PCDHB6	5	140531711	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	975	140531711	40383549	514	64844											
PCDHB12	56124	broad.mit.edu	37	chr5	140590139	140590139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgtgctggtgctggacGccaacgacaactcgcccttc	12	15	0	0	rs145232861	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140590139G>A	uc003liz.2	+	1	1849	c.1660G>A	c.(1660-1662)GCC>ACC	p.A554T	PCDHB12_uc011dak.1_Missense_Mutation_p.A217T	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	554	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCTGGACGCCAACGACAA	0.711													A	140590139	G	A	140590139	3	1	98	1	0	0	0	0	1	0	0	0	11537	1087	38	1	1662	1	PCDHB12	5	140590139	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	58428	140590139	40325121	515	64845											
PCDHB13	56123	broad.mit.edu	37	chr5	140594674	140594675	+	Missense_Mutation	DNP	AC	AC	GG													ttgaggcaagagatgctggaAccttttctggaaaatgcacc					rs114453992	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140594674_140594675AC>GG	uc003lja.1	+	1	1166_1167	c.979_980AC>GG	c.(979-981)ACC>GGC	p.T327G		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	327	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGATGCTGGAACCTTTTCTGGA	0.406													GG	140594675	AC	GG	140594674	3	3	98	1	0	0	0	0	1	0	0	0	11538	43	2	3	981	3	PCDHB13	5	140594674	Missense_Mutation	DNP	AC	TCGA-BR-8591-01A-11D-2394-08	4535	140594674	40320586	516	64846											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720214	140720214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggaccagaacgacaacgCgcccgagatcctgtaccctg	11	15	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140720214C>T	uc003ljk.1	+	1	1861	c.1676C>T	c.(1675-1677)GCG>GTG	p.A559V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.A559V	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	559	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAACGCGCCCGAGATC	0.622													T	140720214	C	T	140720214	3	4	98	1	0	0	0	0	1	0	0	0	11554	768	27	1	1678	1	PCDHGA2	5	140720214	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	125540	140720214	40195046	517	64847											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755320	140755320	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtgctggaccagaatgAcaatgcgcccgagatcctgt	12	10	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140755320A>G	uc003ljy.1	+	1	1670	c.1670A>G	c.(1669-1671)GAC>GGC	p.D557G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.D557G	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	557	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCAGAATGACAATGCGCCC	0.642													G	140755320	A	G	140755320	3	3	98	1	0	0	0	0	1	0	0	0	11558	275	10	3	1672	3	PCDHGA6	5	140755320	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	35106	140755320	40159940	518	64848											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768971	140768971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctacgtgtccataagcgCggagagcggggtggtgttcg	16	9	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140768971C>T	uc003lkc.1	+	1	1520	c.1520C>T	c.(1519-1521)GCG>GTG	p.A507V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.A507V	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	507	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|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)			TCCATAAGCGCGGAGAGCGGG	0.657													T	140768971	C	T	140768971	3	4	98	1	0	0	0	0	1	0	0	0	11565	768	27	1	1522	1	PCDHGB4	5	140768971	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	13651	140768971	40146289	519	64849											
PCDHGB5	56101	broad.mit.edu	37	chr5	140779318	140779318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctgcgctcagcgcaaacGtgagcctgcgcgtgttggtg	15	13	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140779318G>A	uc003lkf.1	+	1	1624	c.1624G>A	c.(1624-1626)GTG>ATG	p.V542M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.V542M	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	542	Extracellular (Potential).|Cadherin 5.				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)			CAGCGCAAACGTGAGCCTGCG	0.672													A	140779318	G	A	140779318	3	1	98	1	0	0	0	0	1	0	0	0	11566	1145	40	1	1626	1	PCDHGB5	5	140779318	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	10347	140779318	40135942	520	64850											
PCDHGA11	56105	broad.mit.edu	37	chr5	140802536	140802536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgtggagctggcgccccGctctgcggaacctggctacc	15	15	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140802536G>A	uc003lkq.1	+	1	2000	c.1742G>A	c.(1741-1743)CGC>CAC	p.R581H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.R581H|PCDHGA11_uc003lkp.1_Missense_Mutation_p.R581H	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	581	Extracellular (Potential).|Cadherin 6.				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)			CTGGCGCCCCGCTCTGCGGAA	0.637													A	140802536	G	A	140802536	3	1	98	1	0	0	0	0	1	0	0	0	11552	1087	38	1	1744	1	PCDHGA11	5	140802536	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	23218	140802536	40112724	521	64851											
PCDHGA11	56105	broad.mit.edu	37	chr5	140802793	140802793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctcaccgtggctgtggccGacagcatccccgaagtcctg	12	16	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140802793G>A	uc003lkq.1	+	1	2257	c.1999G>A	c.(1999-2001)GAC>AAC	p.D667N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.D667N|PCDHGA11_uc003lkp.1_Intron	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	667	Extracellular (Potential).|Cadherin 6.				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)			GGCTGTGGCCGACAGCATCCC	0.672													A	140802793	G	A	140802793	3	1	98	1	0	0	0	0	1	0	0	0	11552	1058	37	1	2001	1	PCDHGA11	5	140802793	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	257	140802793	40112467	522	64852											
PCDHGC3	5098	broad.mit.edu	37	chr5	140856568	140856568	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccggcgtgcggcaactattCgccttagaccttgtaaccgg	12	13	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140856568C>T	uc003lkv.1	+	1	1000	c.885C>T	c.(883-885)TTC>TTT	p.F295F	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Silent_p.F295F|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	295	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAACTATTCGCCTTAGACC	0.547													T	140856568	C	T	140856568	2	4	98	1	0	0	0	0	0	0	0	1	11569	883	31	1		1	PCDHGC3	5	140856568	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	53775	140856568	40058692	523	64853											
PCDHGC4	56098	broad.mit.edu	37	chr5	140866151	140866151	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgagaacaatcgcccaGgggacctgctttgctccctt	9	14	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140866151G>T	uc003lky.1	+	1	1411	c.1411G>T	c.(1411-1413)GGG>TGG	p.G471W	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.G471W|PCDHGC5_uc011dbc.1_5'Flank|PCDHGC5_uc003lla.1_5'Flank	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	471	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATCGCCCAGGGGACCTGCT	0.488													T	140866151	G	T	140866151	3	4	98	1	0	0	0	0	1	0	0	0	11570	1000	35	5	1413	5	PCDHGC4	5	140866151	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	9583	140866151	40049109	524	64854											
SPRY4	81848	broad.mit.edu	37	chr5	141694154	141694154	+	Frame_Shift_Del	DEL	G	G	-													ccagcaggaaggcaacgtccGgggggatgcacactccttgc					rs144353509		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:141694153_141694153CG>C	uc010jgi.1	-	2	831	c.590_590CG>G	c.(589-591)cggfs	p.R197fs	SPRY4_uc003lml.2_Frame_Shift_Del_p.R174fs|SPRY4_uc021yet.1_Frame_Shift_Del_p.R174fs	NM_030964	NP_001120968	Q9C004	SPY4_HUMAN	Homo sapiens sprouty homolog 4 (Drosophila) (SPRY4), transcript variant 1, mRNA.	174	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAACGTCCGGGGGGATGC	0.607									Testicular Cancer, Familial Clustering of				-	141694154	G	-	141694154	7	5	98	1	0	1	0	1	0	0	0	0	15107	1115	39	0	383	0	SPRY4	5	141694154	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	828003	141694154	39221106	525	64855											
YIPF5	81555	broad.mit.edu	37	chr5	143543785	143543785	+	Frame_Shift_Del	DEL	T	T	-													cggatgtaatactgttagtgTtttttgccagatgtggtcaa							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:143543784_143543784GT>G	uc003lnk.4	-	3	761	c.320_320AC>C	c.(319-321)acafs	p.T107fs	YIPF5_uc003lnl.4_Frame_Shift_Del_p.T107fs|YIPF5_uc010jgl.3_Frame_Shift_Del_p.T53fs	NM_001024947	NP_110426	Q969M3	YIPF5_HUMAN	Homo sapiens Yip1 domain family, member 5 (YIPF5), transcript variant 1, mRNA.	107					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle|Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TACTGTTAGTGTTTTTTGCCA	0.333													-	143543785	T	-	143543785	7	5	98	1	0	1	0	1	0	0	0	0	17478	1725	60	0	466	0	YIPF5	5	143543785	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	1849631	143543785	37371475	526	64856											
SPINK5	11005	broad.mit.edu	37	chr5	147494018	147494018	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggcccagatggcaagaccCatggcaacaagtgtgccatg	13	11	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:147494018C>A	uc003lox.2	+	21	2054	c.1981C>A	c.(1981-1983)CAT>AAT	p.H661N	SPINK5_uc010jgs.1_Missense_Mutation_p.H633N|SPINK5_uc010jgr.2_Missense_Mutation_p.H642N|SPINK5_uc003low.2_Missense_Mutation_p.H661N|SPINK5_uc003loy.2_Missense_Mutation_p.H661N	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	661	Kazal-like 10.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCAAGACCCATGGCAACAA	0.463													A	147494018	C	A	147494018	3	1	98	1	0	0	0	0	1	0	0	0	15061	594	21	5	2063	5	SPINK5	5	147494018	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3950233	147494018	33421242	527	64857											
PPARGC1B	133522	broad.mit.edu	37	chr5	149210339	149210341	+	In_Frame_Del	DEL	CTC	CTC	-													ttttccctcagctgcagaagCtcctcctggccacatcctac							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:149210338_149210340GCTC>G	uc003lrc.3	+	3	565_567	c.474_476GCTC>G	c.(472-477)aagctc>aaGc	p.L161del	PPARGC1B_uc003lrb.2_In_Frame_Del_p.L161del|PPARGC1B_uc003lrd.3_Intron|PPARGC1B_uc021yfr.1_Intron|PPARGC1B_uc003lre.1_In_Frame_Del_p.L140del|PPARGC1B_uc003lrf.3_In_Frame_Del_p.L140del	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	161					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGCTGCAGAAGCTCCTCCTGGCC	0.611													-	149210341	CTC	-	149210339	7	5	98	1	0	1	0	1	0	0	0	0	12301	797	28	0	496	0	PPARGC1B	5	149210339	In_Frame_Del	DEL	CTC	TCGA-BR-8591-01A-11D-2394-08	1716321	149210339	31704921	528	64858											
NDST1	3340	broad.mit.edu	37	chr5	149900963	149900963	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggcctggagccctcggcGgatgcccccgagcctgactg	15	16	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:149900963G>A	uc003lsk.3	+	2	649	c.147G>A	c.(145-147)GCG>GCA	p.A49A	NDST1_uc011dcj.1_Silent_p.A49A|NDST1_uc003lsl.2_Silent_p.A49A	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	49	Heparan sulfate N-deacetylase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCCTCGGCGGATGCCCCCG	0.652													A	149900963	G	A	149900963	2	1	98	1	0	0	0	0	0	0	0	1	10255	1103	39	1		1	NDST1	5	149900963	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	690624	149900963	31014297	529	64859											
FAT2	2196	broad.mit.edu	37	chr5	150885514	150885514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggaagcccccatagaggCcattaggctctggcatcacg	13	12	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:150885514C>T	uc003lue.3	-	23	12675	c.12662G>A	c.(12661-12663)GGC>GAC	p.G4221D	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.G828D	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	4221	Cytoplasmic (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCATAGAGGCCATTAGGCTC	0.612													T	150885514	C	T	150885514	3	4	98	1	0	0	0	0	1	0	0	0	5690	739	26	2	391	2	FAT2	5	150885514	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	984551	150885514	30029746	530	64860											
MRPL22	29093	broad.mit.edu	37	chr5	154346297	154346297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacgcatccgctaccatgGcagaggtcgctttgggatca	12	11	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:154346297G>A	uc003lvy.3	+	7	499	c.461G>A	c.(460-462)GGC>GAC	p.G154D	MRPL22_uc003lvz.3_Missense_Mutation_p.G74D	NM_014180	NP_054899	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22 isoform a	154					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome				0	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGCTACCATGGCAGAGGTCGC	0.502													A	154346297	G	A	154346297	3	1	98	1	0	0	0	0	1	0	0	0	9788	1203	42	2	487	2	MRPL22	5	154346297	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3460783	154346297	26568963	531	64861											
TIMD4	91937	broad.mit.edu	37	chr5	156349159	156349159	+	Frame_Shift_Del	DEL	G	G	-													aagagcacaaatcccaaggaGggggcgatgatcatcagtag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:156349158_156349158AG>A	uc003lwh.2	-	6	1021	c.964_964CT>T	c.(964-966)tccfs	p.S322fs	TIMD4_uc010jii.2_Frame_Shift_Del_p.S294fs|TIMD4_uc003lwg.2_Frame_Shift_Del_p.S24fs	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	322						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATCCCAAGGAGGGGGCGATG	0.527													-	156349159	G	-	156349159	7	5	98	1	0	1	0	1	0	0	0	0	15900	987	35	0	185	0	TIMD4	5	156349159	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	2002862	156349159	24566101	532	64862											
LCP2	3937	broad.mit.edu	37	chr5	169693822	169693822	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatacccacctagtgtgaaGggttctctatcaaacggagc	9	11	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:169693822G>T	uc003man.1	-	10	969	c.762C>A	c.(760-762)CCC>CCA	p.P254P	LCP2_uc011des.1_Silent_p.P49P|LCP2_uc011det.1_Silent_p.P83P|LCP2_uc010jjo.1_Silent_p.P61P	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	254					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CTAGTGTGAAGGGTTCTCTAT	0.368													T	169693822	G	T	169693822	2	4	98	1	0	0	0	0	0	0	0	1	8692	987	35	5		5	LCP2	5	169693822	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	13344663	169693822	11221438	533	64863											
RANBP17	64901	broad.mit.edu	37	chr5	170346619	170346619	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgccatagttgtgaggTattcaaaaactaaatgtttt	8	5	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:170346619T>C	uc003mba.2	+	11	1290	c.1274_splice	c.e11+2	p.R425_splice	RANBP17_uc003max.1_Splice_Site|RANBP17_uc003may.1_Splice_Site|RANBP17_uc003maz.1_Splice_Site|RANBP17_uc010jjr.1_Splice_Site	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17						mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGTTGTGAGGTATTCAAAAAC	0.294			T	TRD@	ALL								C	170346619	T	C	170346619	5	2	98	1	0	0	0	0	0	0	1	0	13027	1652	57	3	1318	3	RANBP17	5	170346619	Splice_Site	SNP	T	TCGA-BR-8591-01A-11D-2394-08	652797	170346619	10568641	534	64864											
CPEB4	80315	broad.mit.edu	37	chr5	173376544	173376544	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagttttcgtcgctttggccCtctgattgtggattggcctc	11	10	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:173376544C>A	uc003mcs.3	+	6	2896	c.1490C>A	c.(1489-1491)CCT>CAT	p.P497H	CPEB4_uc010jju.1_Missense_Mutation_p.P472H|CPEB4_uc010jjv.2_Missense_Mutation_p.P480H|CPEB4_uc011dfg.1_Missense_Mutation_p.P472H|CPEB4_uc003mct.3_Missense_Mutation_p.P107H|CPEB4_uc003mcu.3_Missense_Mutation_p.P90H	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	497	RRM 1.						nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CGCTTTGGCCCTCTGATTGTG	0.303													A	173376544	C	A	173376544	3	1	98	1	0	0	0	0	1	0	0	0	3803	681	24	5	1512	5	CPEB4	5	173376544	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3029925	173376544	7538716	535	64865											
FGFR4	2264	broad.mit.edu	37	chr5	176518804	176518804	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctataactacctgctagatgTgctgggtgagcgcggggctg	15	9	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:176518804T>C	uc003mfl.2	+	6	889	c.722T>C	c.(721-723)GTG>GCG	p.V241A	FGFR4_uc003mfm.2_Missense_Mutation_p.V241A|FGFR4_uc011dfu.1_Missense_Mutation_p.V241A|FGFR4_uc011dfw.1_Missense_Mutation_p.V241A|FGFR4_uc003mfo.2_Missense_Mutation_p.V241A	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	241	Extracellular (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CTGCTAGATGTGCTGGGTGAG	0.612										TSP Lung(9;0.080)			C	176518804	T	C	176518804	3	2	98	1	0	0	0	0	1	0	0	0	5868	1696	59	3	740	3	FGFR4	5	176518804	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	3142260	176518804	4396456	536	64866											
ADAMTS2	9509	broad.mit.edu	37	chr5	178541286	178541286	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatagcgggacaagacttccAtcctacagaatattgacttg	8	9	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:178541286A>G	uc003mjw.2	-	22	3218	c.3218T>C	c.(3217-3219)ATG>ACG	p.M1073T	uc003mjv.3_5'Flank	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1073	PLAC.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAAGACTTCCATCCTACAGAA	0.493													G	178541286	A	G	178541286	3	3	98	1	0	0	0	0	1	0	0	0	265	217	8	3	421	3	ADAMTS2	5	178541286	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	2022482	178541286	2373974	537	64867											
ADAMTS2	9509	broad.mit.edu	37	chr5	178559313	178559313	+	Splice_Site	DEL	T	T	-													tcaaacatcttgatgtaaccTttttttgatgtggaaagaca							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:178559312_178559312CT>C	uc003mjw.3	-	15	2312	c.2210_splice	c.e15-1	p.G737_splice		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	737	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TTGATGTAACCTTTTTTTGAT	0.547													-	178559313	T	-	178559313	8	5	98	1	0	1	0	1	0	0	1	0	265	1623	56	0	1459	0	ADAMTS2	5	178559313	Splice_Site	DEL	T	TCGA-BR-8591-01A-11D-2394-08	18027	178559313	2355947	538	64868											
TBC1D9B	23061	broad.mit.edu	37	chr5	179290791	179290791	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acagcagctgggagggtgagCcctgtccctcgccgctgccc	14	16	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:179290791C>G	uc003mlh.2	-	22	3447	c.3410G>C	c.(3409-3411)GGC>GCC	p.G1137A	TBC1D9B_uc003mli.2_Missense_Mutation_p.G1120A|TBC1D9B_uc003mlj.2_Missense_Mutation_p.G1119A|TBC1D9B_uc003mlf.2_Missense_Mutation_p.G211A|TBC1D9B_uc003mlg.2_Missense_Mutation_p.G296A|TBC1D9B_uc011dgv.1_Missense_Mutation_p.G296A	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1137						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGGGTGAGCCCTGTCCCTC	0.622													G	179290791	C	G	179290791	3	3	98	1	0	0	0	0	1	0	0	0	15625	739	26	5	346	5	TBC1D9B	5	179290791	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	731478	179290791	1624469	539	64869											
FOXF2	2295	broad.mit.edu	37	chr6	1390484	1390484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcggcggcccgagaagcCgccctactcgtacatcgcgc	13	17	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:1390484C>T	uc003mtm.2	+	1	416	c.302C>T	c.(301-303)CCG>CTG	p.P101L	FOXF2_uc003mtn.2_Missense_Mutation_p.P101L	NM_001452	NP_001443	Q12947	FOXF2_HUMAN	forkhead box F2	101	Fork-head.				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CCCGAGAAGCCGCCCTACTCG	0.532													T	1390484	C	T	1390484	3	4	98	1	0	0	0	0	1	0	0	0	6006	652	23	1	304	1	FOXF2	6	1390484	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08		1390484	169724583	540	64870											
BMP6	654	broad.mit.edu	37	chr6	7727443	7727443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcagaaggagatcttgtcGgtgctggggctcccgcaccg	15	11	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:7727443G>A	uc003mxu.3	+	1	433	c.255G>A	c.(253-255)TCG>TCA	p.S85S		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	85					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					AGATCTTGTCGGTGCTGGGGC	0.617													A	7727443	G	A	7727443	2	1	98	1	0	0	0	0	0	0	0	1	1464	1103	39	1		1	BMP6	6	7727443	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	6336959	7727443	163387624	541	64871											
HIVEP1	3096	broad.mit.edu	37	chr6	12121648	12121648	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actccaagcagtccagaaaaTgtgataggtgactttttgct	9	8	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:12121648T>A	uc003nac.2	+	4	1799	c.1620T>A	c.(1618-1620)AAT>AAA	p.N540K	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	540					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTCCAGAAAATGTGATAGGTG	0.458													A	12121648	T	A	12121648	3	1	98	1	0	0	0	0	1	0	0	0	7186	1461	51	5	1630	5	HIVEP1	6	12121648	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	4394205	12121648	158993419	542	64872											
HIVEP1	3096	broad.mit.edu	37	chr6	12122472	12122473	+	Frame_Shift_Ins	INS	-	-	C													ataccgaagtcacctttcacINSccctactgaaaaatcaaagc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:12122471_12122472A>AC	uc003nac.3	+	3	2622_2623	c.2443_2444A>AC	c.(2443-2445)accfs	p.T815fs	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	815					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTCACCTTTCACCCCTACTGAA	0.391													C	12122473	-	C	12122472	7	5	98	1	0	1	1	0	0	0	0	0	7186	507	18	0	2454	0	HIVEP1	6	12122472	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	824	12122472	158992595	543	64873											
PHACTR1	221692	broad.mit.edu	37	chr6	13206135	13206136	+	Frame_Shift_Ins	INS	-	-	G													tcatgatctgtatgcccgtgINSggggggccagacctctcact							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:13206134_13206135T>TG	uc003nah.2	+	7	1125_1126	c.752_753T>TG	c.(751-753)gtgfs	p.V251fs	PHACTR1_uc011dir.2_Frame_Shift_Ins_p.V320fs|PHACTR1_uc010jpc.3_Frame_Shift_Ins_p.V251fs|PHACTR1_uc003nag.2_Frame_Shift_Ins_p.V251fs	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													G	13206136	-	G	13206135	7	5	98	1	0	1	1	0	0	0	0	0	11809	1335	47	0	775	0	PHACTR1	6	13206135	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	1083663	13206135	157908932	544	64874											
JARID2	3720	broad.mit.edu	37	chr6	15513182	15513182	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatagctaagccattctccAtggagaagttactctaccag	7	10	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:15513182A>G	uc003nbj.2	+	15	3416	c.3172A>G	c.(3172-3174)ATG>GTG	p.M1058V	JARID2_uc011div.1_Missense_Mutation_p.M886V	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	1058					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GCCATTCTCCATGGAGAAGTT	0.463													G	15513182	A	G	15513182	3	3	98	1	0	0	0	0	1	0	0	0	7945	217	8	3	3230	3	JARID2	6	15513182	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	2307047	15513182	155601885	545	64875											
RBM24	221662	broad.mit.edu	37	chr6	17292179	17292179	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccagtacccctatgcagcCtctccagctgctgcaggata	9	15	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:17292179C>A	uc003nbz.3	+	4	544	c.540C>A	c.(538-540)GCC>GCA	p.A180A	RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Silent_p.A122A|RBM24_uc003nca.2_Silent_p.A135A|RBM24_uc011diy.1_Missense_Mutation_p.P94H|RBM24_uc011diz.1_Missense_Mutation_p.P79H	NM_001143942	NP_001137414	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24 isoform 1	180	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			ovary(1)|skin(1)	2	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			CCTATGCAGCCTCTCCAGCTG	0.433													A	17292179	C	A	17292179	2	1	98	1	0	0	0	0	0	0	0	1	13124	668	24	5		5	RBM24	6	17292179	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1778997	17292179	153822888	546	64876											
GPLD1	2822	broad.mit.edu	37	chr6	24436912	24436912	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cggccgtcttctcccccaatCagtccagaggttacatctgc	8	16	4	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:24436912C>T	uc003ned.1	-	22	2361	c.2250G>A	c.(2248-2250)CTG>CTA	p.L750L		NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	750	FG-GAP 6.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						CTCCCCCAATCAGTCCAGAGG	0.453													T	24436912	C	T	24436912	2	4	98	1	0	0	0	0	0	0	0	1	6614	813	29	4		4	GPLD1	6	24436912	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	7144733	24436912	146678155	547	64877											
HIST1H2AA	221613	broad.mit.edu	37	chr6	25726456	25726456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccctgggcaatggtcacGccgcccaaaagcttattgag	11	14	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:25726456G>A	uc003nfc.2	-	1	335	c.300C>T	c.(298-300)GGC>GGT	p.G100G	HIST1H2BA_uc003nfd.2_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	100					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CAATGGTCACGCCGCCCAAAA	0.522													A	25726456	G	A	25726456	2	1	98	1	0	0	0	0	0	0	0	1	7128	1074	38	1		1	HIST1H2AA	6	25726456	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1289544	25726456	145388611	548	64878											
HIST1H1A	3024	broad.mit.edu	37	chr6	26017548	26017548	+	Frame_Shift_Del	DEL	T	T	-													cccccgtggcctttttgagcTttttagatgcacccgttgcc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:26017547_26017547CT>C	uc003nfo.3	-	0	494	c.414_414AG>G	c.(412-414)aagfs	p.K138fs		NM_005325	NP_005316	Q02539	H11_HUMAN	Homo sapiens histone cluster 1, H1a (HIST1H1A), mRNA.	138					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CCTTTTTGAGCTTTTTAGATG	0.502													-	26017548	T	-	26017548	7	5	98	1	0	1	0	1	0	0	0	0	7122	1609	56	0	238	0	HIST1H1A	6	26017548	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	291092	26017548	145097519	549	64879											
BTN2A2	10385	broad.mit.edu	37	chr6	26385502	26385502	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccctggtcatacataaCgtcacagcccaggagaatgg	12	11	2	1	rs143017993		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:26385502C>T	uc003nhq.2	+	3	440	c.354C>T	c.(352-354)AAC>AAT	p.N118N	BTN2A2_uc011dkf.1_Intron|BTN2A2_uc011dkg.1_Silent_p.N118N|BTN2A2_uc003nhr.2_Intron|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Silent_p.N118N|BTN2A2_uc003nht.2_Silent_p.N118N	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	118	Extracellular (Potential).|Ig-like V-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						TCATACATAACGTCACAGCCC	0.552													T	26385502	C	T	26385502	2	4	98	1	0	0	0	0	0	0	0	1	1561	535	19	1		1	BTN2A2	6	26385502	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	367954	26385502	144729565	550	64880											
BTN2A1	11120	broad.mit.edu	37	chr6	26463679	26463679	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtgatcatcagagacaagtCtgtgaggaacatgtcctgct	11	8	3	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:26463679C>A	uc003nib.1	+	4	850	c.638C>A	c.(637-639)TCT>TAT	p.S213Y	BTN2A1_uc003nic.1_Missense_Mutation_p.S213Y|BTN2A1_uc003nid.1_Missense_Mutation_p.S61Y|BTN2A1_uc011dko.1_Missense_Mutation_p.S152Y|BTN2A1_uc010jqk.1_5'Flank	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1 isoform 1	213	Extracellular (Potential).				lipid metabolic process	integral to plasma membrane				ovary(1)|skin(1)	2						AGAGACAAGTCTGTGAGGAAC	0.532													A	26463679	C	A	26463679	3	1	98	1	0	0	0	0	1	0	0	0	1560	913	32	5	648	5	BTN2A1	6	26463679	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	78177	26463679	144651388	551	64881											
MAS1L	116511	broad.mit.edu	37	chr6	29455156	29455157	+	Frame_Shift_Ins	INS	-	-	AC													gtaccagatggggaagaggaINScacacacacaccgctctgtg					rs146992654	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:29455155_29455156G>GAC	uc011dlq.2	-	0	524_525	c.524_525C>GTC	c.(523-525)gtcfs	p.V175fs		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	175						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TGGGGAAGAGGACACACACACA	0.49													AC	29455157	-	AC	29455156	7	5	98	1	0	1	1	0	0	0	0	0	9321	275	10	0	614	0	MAS1L	6	29455156	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	2991477	29455156	141659911	552	64882											
TRIM39	56658	broad.mit.edu	37	chr6	30297398	30297398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccgtcaagcggaagatcCgggatgagagcctctgcccc	14	13	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:30297398C>T	uc010jrz.2	+	3	616	c.304C>T	c.(304-306)CGG>TGG	p.R102W	HCG18_uc003npx.2_5'Flank|HCG18_uc003npy.2_5'Flank|TRIM39_uc003npz.2_Missense_Mutation_p.R102W|TRIM39_uc003nqb.2_Missense_Mutation_p.R102W|TRIM39_uc003nqc.2_Missense_Mutation_p.R102W|TRIM39_uc010jsa.1_Missense_Mutation_p.R102W	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN	tripartite motif-containing 39 isoform 1	102	B box-type.				apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding			ovary(3)	3						GCGGAAGATCCGGGATGAGAG	0.552													T	30297398	C	T	30297398	3	4	98	1	0	0	0	0	1	0	0	0	16510	643	23	1	306	1	TRIM39	6	30297398	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	842242	30297398	140817669	553	64883											
DDR1	780	broad.mit.edu	37	chr6	30858775	30858775	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggcaatgaggaccctgAgggagtggtgctgaaggacc	16	9	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:30858775A>G	uc003nrr.2	+	6	702	c.443A>G	c.(442-444)GAG>GGG	p.E148G	DDR1_uc010jse.2_Missense_Mutation_p.E148G|DDR1_uc003nrq.2_Missense_Mutation_p.E148G|DDR1_uc003nrs.2_Missense_Mutation_p.E148G|DDR1_uc003nrt.2_Missense_Mutation_p.E148G|DDR1_uc011dms.1_Missense_Mutation_p.E166G|DDR1_uc011dmt.1_Missense_Mutation_p.E174G|DDR1_uc003nru.2_Missense_Mutation_p.E148G|DDR1_uc011dmu.1_Missense_Mutation_p.E148G|DDR1_uc003nrv.2_Missense_Mutation_p.E148G|DDR1_uc003nrw.1_5'Flank|DDR1_uc003nry.1_5'Flank|DDR1_uc003nrx.1_5'Flank	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	148	Extracellular (Potential).|F5/8 type C.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	GAGGACCCTGAGGGAGTGGTG	0.632													G	30858775	A	G	30858775	3	3	98	1	0	0	0	0	1	0	0	0	4336	304	11	3	457	3	DDR1	6	30858775	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	561377	30858775	140256292	554	64884											
HLA-C	3107	broad.mit.edu	37	chr6	31323363	31323363	+	Frame_Shift_Del	DEL	G	G	-													ggtgggtcacgtgtgtctttGgggggtctgatgggaagagt					rs77061046		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:31323362_31323362TG>T	uc003nth.2	-	3	681	c.627_627CA>A	c.(625-627)ccafs	p.P209fs	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Frame_Shift_Del_p.P88fs|HLA-C_uc003nti.1_Non-coding_Transcript|HLA-C_uc010jsn.1_Non-coding_Transcript|HLA-C_uc010jso.2_3'UTR|HLA-C_uc021yum.1_3'UTR	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	209	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CGTGTGTCTTTGGGGGGTCTG	0.577													-	31323363	G	-	31323363	7	5	98	1	0	1	0	1	0	0	0	0	7197	1348	47	0		0	HLA-C	6	31323363	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	464588	31323363	139791704	555	64885											
APOM	55937	broad.mit.edu	37	chr6	31625431	31625431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatcctcccgaaaagtgtGtggaggaattcaagtccctg	10	11	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:31625431G>A	uc003nvl.2	+	5	545	c.472G>A	c.(472-474)GTG>ATG	p.V158M	APOM_uc003nvk.2_Missense_Mutation_p.V86M	NM_019101	NP_061974	O95445	APOM_HUMAN	apolipoprotein M	158					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity				0						CGAAAAGTGTGTGGAGGAATT	0.507													A	31625431	G	A	31625431	3	1	98	1	0	0	0	0	1	0	0	0	812	1377	48	4	490	4	APOM	6	31625431	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	302068	31625431	139489636	556	64886											
EHMT2	10919	broad.mit.edu	37	chr6	31848498	31848498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaactgaagaaggcgatgCgtggaaatcgcaggtcttgg	17	6	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:31848498C>T	uc003nxz.1	-	27	3414	c.3404G>A	c.(3403-3405)CGC>CAC	p.R1135H	EHMT2_uc003nxv.1_Missense_Mutation_p.R174H|EHMT2_uc003nxw.1_Missense_Mutation_p.R174H|EHMT2_uc003nxx.1_Missense_Mutation_p.R333H|EHMT2_uc003nxy.1_Missense_Mutation_p.R933H|EHMT2_uc011don.1_Missense_Mutation_p.R1158H|EHMT2_uc003nya.1_Missense_Mutation_p.R1101H|SLC44A4_uc010jti.2_5'Flank|SLC44A4_uc011dom.1_5'Flank	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1135	SET.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						GAAGGCGATGCGTGGAAATCG	0.582													T	31848498	C	T	31848498	3	4	98	1	0	0	0	0	1	0	0	0	4984	768	27	1	236	1	EHMT2	6	31848498	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	223067	31848498	139266569	557	64887											
RDBP	7936	broad.mit.edu	37	chr6	31926206	31926206	+	Frame_Shift_Del	DEL	G	G	-													tcctcttcctcgctcagtccGgggggtatcaccaacatggt					rs146039608		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:31926205_31926205CG>C	uc003nyk.3	-	1	223	c.19_19CG>G	c.(19-21)ggafs	p.G7fs	RDBP_uc011dot.2_Frame_Shift_Del_p.G7fs|RDBP_uc021yvb.1_Frame_Shift_Del_p.G7fs|MIR1236_uc021yvc.1_5'Flank|SKIV2L_uc003nyn.1_5'Flank|SKIV2L_uc011dou.1_5'Flank|SKIV2L_uc011dov.1_5'Flank	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	7					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						TCGCTCAGTCCGGGGGGTATC	0.542													-	31926206	G	-	31926206	7	5	98	1	0	1	0	1	0	0	0	0	13188	1103	39	0	1164	0	RDBP	6	31926206	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	77708	31926206	139188861	558	64888											
SKIV2L	6499	broad.mit.edu	37	chr6	31933701	31933701	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagatggcaggccgggcaGggcggaggggcctggacccc	20	12	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:31933701G>T	uc003nyn.1	+	18	2502	c.2113G>T	c.(2113-2115)GGG>TGG	p.G705W	SKIV2L_uc011dou.1_Missense_Mutation_p.G547W|SKIV2L_uc011dov.1_Missense_Mutation_p.G512W	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	705	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						AGGCCGGGCAGGGCGGAGGGG	0.647													T	31933701	G	T	31933701	3	4	98	1	0	0	0	0	1	0	0	0	14359	1000	35	5	2183	5	SKIV2L	6	31933701	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	7495	31933701	139181366	559	64889											
TNXB	7148	broad.mit.edu	37	chr6	32024393	32024393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgacagagatggggcccaCgcgctggccaccgtggaagc	15	12	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:32024393C>T	uc003nzl.2	-	23	8315	c.8113G>A	c.(8113-8115)GTG>ATG	p.V2705M		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2765	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						ATGGGGCCCACGCGCTGGCCA	0.632													T	32024393	C	T	32024393	3	4	98	1	0	0	0	0	1	0	0	0	16343	536	19	1	6688	1	TNXB	6	32024393	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	90692	32024393	139090674	560	64890											
TNXB	7148	broad.mit.edu	37	chr6	32035489	32035489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccgcccctcgtggaggcCgtacaggtgcatcttgtact	13	14	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:32035489C>T	uc003nzl.2	-	18	6695	c.6493G>A	c.(6493-6495)GGC>AGC	p.G2165S		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2237	Fibronectin type-III 14.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						TCGTGGAGGCCGTACAGGTGC	0.672													T	32035489	C	T	32035489	3	4	98	1	0	0	0	0	1	0	0	0	16343	652	23	1	8328	1	TNXB	6	32035489	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	11096	32035489	139079578	561	64891											
BTNL2	56244	broad.mit.edu	37	chr6	32364081	32364081	+	Frame_Shift_Del	DEL	G	G	-													atgctctgtgcattcgccttGggggacaggtaacaggttag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:32364080_32364080TG>T	uc003obg.1	-	4	814	c.814_814CA>A	c.(814-816)aagfs	p.K272fs	BTNL2_uc010jty.1_5'UTR|BTNL2_uc010jtz.1_Non-coding_Transcript|BTNL2_uc010jua.1_Frame_Shift_Del_p.K62fs	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	272	Ig-like V-type 3.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						GCATTCGCCTTGGGGGACAGG	0.517													-	32364081	G	-	32364081	7	5	98	1	0	1	0	1	0	0	0	0	1565	1335	47	0	562	0	BTNL2	6	32364081	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	328592	32364081	138750986	562	64892											
TAP2	6891	broad.mit.edu	37	chr6	32797230	32797230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctcatccaggatgaggaCccgcgggtctcgtacaaggg	14	12	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:32797230C>T	uc003occ.2	-	10	1910	c.1879G>A	c.(1879-1881)GTC>ATC	p.V627I	TAP2_uc011dqf.1_Missense_Mutation_p.V627I|TAP2_uc003ocb.1_Missense_Mutation_p.V627I|TAP2_uc003ocd.2_Missense_Mutation_p.V627I	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	627	ABC transporter.|Cytoplasmic (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						AGGATGAGGACCCGCGGGTCT	0.617													T	32797230	C	T	32797230	3	4	98	1	0	0	0	0	1	0	0	0	15548	507	18	4	274	4	TAP2	6	32797230	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	433149	32797230	138317837	563	64893											
COL11A2	1302	broad.mit.edu	37	chr6	33152075	33152076	+	Frame_Shift_Ins	INS	-	-	G													cctggaacctgtcggctgtgINSggggggacctggagatctgt					rs147527758		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:33152074_33152075T>TG	uc003ocx.1	-	7	1194_1195	c.966_967A>CA	c.(964-969)cccacafs	p.P322fs	COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	322	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.P321fs*21(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTGTCGGCTGTGGGGGGGACCT	0.604													G	33152076	-	G	33152075	7	5	98	1	0	1	1	0	0	0	0	0	3668	1335	47	0	4480	0	COL11A2	6	33152075	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	354845	33152075	137962992	564	64894											
RGL2	5863	broad.mit.edu	37	chr6	33264534	33264534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggagccgtcgggaggaaCgtgggggaggcatagggacc	20	9	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:33264534C>T	uc003odv.2	-	4	393	c.260G>A	c.(259-261)CGT>CAT	p.R87H	RGL2_uc003odu.2_5'Flank|RGL2_uc010jur.2_5'UTR|RGL2_uc003odw.2_Missense_Mutation_p.R5H|RGL2_uc011drb.1_Missense_Mutation_p.R5H	NM_004761	NP_004752	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation	87					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			skin(3)|lung(1)|breast(1)|pancreas(1)	6						TCGGGAGGAACGTGGGGGAGG	0.577													T	33264534	C	T	33264534	3	4	98	1	0	0	0	0	1	0	0	0	13277	536	19	1	2133	1	RGL2	6	33264534	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	112459	33264534	137850533	565	64895											
TAPBP	6892	broad.mit.edu	37	chr6	33281536	33281536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggttcccccggtccctggCgcaacagcagtgcaccgggt	14	16	0	0	rs145263363		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:33281536C>T	uc003odx.1	-	2	314	c.143G>A	c.(142-144)CGC>CAC	p.R48H	TAPBP_uc010jus.1_Missense_Mutation_p.R48H|TAPBP_uc003ody.2_Missense_Mutation_p.R48H|TAPBP_uc003odz.2_Missense_Mutation_p.R48H|TAPBP_uc010jut.1_Missense_Mutation_p.R48H|TAPBP_uc011drc.1_Missense_Mutation_p.R48H	NM_003190	NP_003181	O15533	TPSN_HUMAN	tapasin isoform 1 precursor	48	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			ovary(1)	1						CGGTCCCTGGCGCAACAGCAG	0.677													T	33281536	C	T	33281536	3	4	98	1	0	0	0	0	1	0	0	0	15549	768	27	1	1411	1	TAPBP	6	33281536	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	17002	33281536	137833531	566	64896											
ANKS1A	23294	broad.mit.edu	37	chr6	34953019	34953019	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactccacgaacaaggaggcTgaggcagcaggagtgaaacc	14	10	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:34953019T>C	uc003ojx.3	+	8	1315	c.1173T>C	c.(1171-1173)GCT>GCC	p.A391A	ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	391						cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4						ACAAGGAGGCTGAGGCAGCAG	0.597													C	34953019	T	C	34953019	2	2	98	1	0	0	0	0	0	0	0	1	688	1567	55	3		3	ANKS1A	6	34953019	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1671483	34953019	136162048	567	64897											
C6orf89	221477	broad.mit.edu	37	chr6	36867371	36867372	+	Frame_Shift_Ins	INS	-	-	C													aaagaatgaacctcagagacINScccccccgcagtatcctctc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:36867370_36867371A>AC	uc003omw.3	+	1	334_335	c.171_172A>AC	c.(169-174)agacccfs	p.R57fs	C6orf89_uc003omv.3_5'UTR|C6orf89_uc003omx.3_Frame_Shift_Ins_p.R50fs|C6orf89_uc011dtr.2_5'UTR	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	50						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						AACCTCAGAGACCCCCCCCGCA	0.431													C	36867372	-	C	36867371	7	5	98	1	0	1	1	0	0	0	0	0	2373	507	18	0	178	0	C6orf89	6	36867371	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	1914352	36867371	134247696	568	64898											
PI16	221476	broad.mit.edu	37	chr6	36927008	36927008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagcgcgggcgccgcggcGagaatctgttcgccatcaca	15	13	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:36927008G>A	uc003ona.2	+	2	587	c.259G>A	c.(259-261)GAG>AAG	p.E87K	PI16_uc003omz.1_Missense_Mutation_p.E87K|PI16_uc003onb.2_Missense_Mutation_p.E87K|PI16_uc011dts.1_5'Flank	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN	protease inhibitor 16 precursor	87	Extracellular (Potential).					extracellular region|integral to membrane	peptidase inhibitor activity				0						GCGCCGCGGCGAGAATCTGTT	0.677													A	36927008	G	A	36927008	3	1	98	1	0	0	0	0	1	0	0	0	11869	1059	37	1	265	1	PI16	6	36927008	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	59637	36927008	134188059	569	64899											
DNAH8	1769	broad.mit.edu	37	chr6	38843448	38843448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatcttcataaattatttGtgtttggcctaatgtggagt	8	5	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:38843448G>A	uc003ooe.1	+	51	7651	c.7051G>A	c.(7051-7053)GTG>ATG	p.V2351M		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TAAATTATTTGTGTTTGGCCT	0.408													A	38843448	G	A	38843448	3	1	98	1	0	0	0	0	1	0	0	0	4607	1377	48	4	7245	4	DNAH8	6	38843448	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1916440	38843448	132271619	570	64900											
CUL9	23113	broad.mit.edu	37	chr6	43191022	43191023	+	Frame_Shift_Del	DEL	AG	AG	-													aggaaaccctgctgcggtgcAgagacctggcctcctccctg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:43191022_43191023delAG	uc003ouk.2	+	39	7246_7247	c.7171_7172delAG	c.(7171-7173)AGAfs	p.R2391fs	CUL9_uc003oul.2_Frame_Shift_Del_p.R2363fs|CUL9_uc010jyk.2_Frame_Shift_Del_p.R1543fs|CUL9_uc003oun.2_Frame_Shift_Del_p.R186fs	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	2391					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GCTGCGGTGCAGAGACCTGGCC	0.564													-	43191023	AG	-	43191022	7	5	98	1	0	1	0	1	0	0	0	0	4061	180	7	0	7321	0	CUL9	6	43191022	Frame_Shift_Del	DEL	AG	TCGA-BR-8591-01A-11D-2394-08	4347574	43191022	127924045	571	64901											
GPR116	221395	broad.mit.edu	37	chr6	46874435	46874435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcgtaattccagttcagtGcagctttggaagaataaatc	8	8	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:46874435G>A	uc003oyo.3	-	2	354	c.65C>T	c.(64-66)GCA>GTA	p.A22V	GPR116_uc003oyp.3_Missense_Mutation_p.A22V|GPR116_uc003oyq.3_Missense_Mutation_p.A22V|GPR116_uc003oyr.2_Missense_Mutation_p.A22V|uc003oys.2_Intron	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	22	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			CCAGTTCAGTGCAGCTTTGGA	0.373													A	46874435	G	A	46874435	3	1	98	1	0	0	0	0	1	0	0	0	6633	1319	46	2	4055	2	GPR116	6	46874435	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3683413	46874435	124240632	572	64902											
GPR110	266977	broad.mit.edu	37	chr6	46977604	46977604	+	Frame_Shift_Del	DEL	A	A	-													caggtttgactctatcttggAaaaaaataggaaaacttcat							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:46977603_46977603GA>G	uc003oyt.3	-	10	1767	c.1568_1568TC>C	c.(1567-1569)tccfs	p.S523fs	GPR110_uc011dwl.2_Frame_Shift_Del_p.S211fs	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	523					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ctctaTCTTGGAAAAAAATAG	0.403													-	46977604	A	-	46977604	7	5	98	1	0	1	0	1	0	0	0	0	6627	246	9	0	1185	0	GPR110	6	46977604	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	103169	46977604	124137463	573	64903											
TNFRSF21	27242	broad.mit.edu	37	chr6	47221045	47221045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacaacatcgtttctccGgtgctggcgcagggcgctaa	11	14	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:47221045G>A	uc003oyv.2	-	4	1889	c.1456C>T	c.(1456-1458)CGG>TGG	p.R486W		NM_014452	NP_055267	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily,	486	Cytoplasmic (Potential).|Death.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity				0			Lung(136;0.189)			TCGTTTCTCCGGTGCTGGCGC	0.617													A	47221045	G	A	47221045	3	1	98	1	0	0	0	0	1	0	0	0	16292	1115	39	1	523	1	TNFRSF21	6	47221045	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	243441	47221045	123894022	574	64904											
TINAG	27283	broad.mit.edu	37	chr6	54208055	54208055	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaacaactgatcttccagAgttttttgttgcttcttata	6	8	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:54208055A>C	uc003pcj.2	+	5	802	c.656A>C	c.(655-657)GAG>GCG	p.E219A	TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	219					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GATCTTCCAGAGTTTTTTGTT	0.393													C	54208055	A	C	54208055	3	2	98	1	0	0	0	0	1	0	0	0	15918	304	11	5	674	5	TINAG	6	54208055	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	6987010	54208055	116907012	575	64905											
DST	667	broad.mit.edu	37	chr6	56716255	56716256	+	Frame_Shift_Ins	INS	-	-	T													gagcccccttgaatctttctINStttcgatctctcatgtttag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:56716254_56716255C>CT	uc021zay.1	-	1	277_278	c.151_152G>AG	c.(151-153)agafs	p.R51fs	DST_uc011dxl.1_Frame_Shift_Ins_p.R40fs|DST_uc021zba.1_Frame_Shift_Ins_p.R189fs	NM_001723	NP_001714	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1e, mRNA.	0	Actin-binding.|CH 1.				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	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTGAATCTTTCTTTTCGATCTC	0.54											OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	56716256	-	T	56716255	7	5	98	1	0	1	1	0	0	0	0	0	4783	1624	56	0		0	DST	6	56716255	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	2508200	56716255	114398812	576	64906											
COL12A1	1303	broad.mit.edu	37	chr6	75797397	75797397	+	Frame_Shift_Del	DEL	G	G	-													ctgagtttccaggacggccaGgggggccagggggacctctt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:75797396_75797396AG>A	uc021zbv.1	-	63	9113	c.9078_9078CT>T	c.(9076-9078)cctfs	p.P3026fs	COL12A1_uc021zbw.1_Frame_Shift_Del_p.P1862fs|COL12A1_uc003phs.3_Frame_Shift_Del_p.P3026fs|COL12A1_uc003pht.3_Frame_Shift_Del_p.P1862fs	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	3026	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGGACGGCCAGGGGGGCCAG	0.547													-	75797397	G	-	75797397	7	5	98	1	0	1	0	1	0	0	0	0	3669	1000	35	0	122	0	COL12A1	6	75797397	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	19081142	75797397	95317670	577	64907											
COL12A1	1303	broad.mit.edu	37	chr6	75798830	75798830	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tagcaaacctacctggggggCcaggcagcccccgaggtcct	13	15	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:75798830C>G	uc003phs.2	-	64	9168	c.9002G>C	c.(9001-9003)GGC>GCC	p.G3001A	COL12A1_uc003pht.2_Missense_Mutation_p.G1837A	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	3001	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						ACCTGGGGGGCCAGGCAGCCC	0.473													G	75798830	C	G	75798830	3	3	98	1	0	0	0	0	1	0	0	0	3669	739	26	5	201	5	COL12A1	6	75798830	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1433	75798830	95316237	578	64908											
DOPEY1	23033	broad.mit.edu	37	chr6	83838980	83838981	+	Frame_Shift_Ins	INS	-	-	T													acatcattcagaataactctINSttttctcagtctttggctac							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:83838979_83838980C>CT	uc011dyy.2	+	15	2326_2327	c.2066_2067C>CT	c.(2065-2067)tctfs	p.S689fs	DOPEY1_uc003pjs.1_Frame_Shift_Ins_p.S698fs|DOPEY1_uc010kbl.1_Frame_Shift_Ins_p.S689fs	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	698					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CAGAATAACTCTTTTTCTCAGT	0.416													T	83838981	-	T	83838980	7	5	98	1	0	1	1	0	0	0	0	0	4707	1596	56	0	2148	0	DOPEY1	6	83838980	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	8040150	83838980	87276087	579	64909											
TBX18	9096	broad.mit.edu	37	chr6	85472390	85472390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggccgggccagggagcgCgccggagaccccttggggga	20	14	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:85472390C>T	uc003pkl.1	-	2	369	c.369G>A	c.(367-369)GCG>GCA	p.A123A	TBX18_uc010kbq.1_5'UTR	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	123					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CCAGGGAGCGCGCCGGAGACC	0.697													T	85472390	C	T	85472390	2	4	98	1	0	0	0	0	0	0	0	1	15650	755	27	1		1	TBX18	6	85472390	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1633410	85472390	85642677	580	64910											
ZNF292	23036	broad.mit.edu	37	chr6	87970632	87970632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttcttattgtattcaaaCggtgttgcaactcacaagta	6	8	4	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:87970632C>T	uc003plm.3	+	8	7326	c.7285C>T	c.(7285-7287)CGG>TGG	p.R2429W		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGTATTCAAACGGTGTTGCAA	0.348													T	87970632	C	T	87970632	3	4	98	1	0	0	0	0	1	0	0	0	17823	527	19	1	7315	1	ZNF292	6	87970632	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2498242	87970632	83144435	581	64911											
CNR1	1268	broad.mit.edu	37	chr6	88854674	88854674	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggggttcaggaccatgaaaCactctatgtccatgaagttc	10	9	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:88854674C>A	uc011dzq.1	-	2	3883	c.320G>T	c.(319-321)TGT>TTT	p.C107F	CNR1_uc010kbz.2_Missense_Mutation_p.C107F|CNR1_uc011dzr.1_Missense_Mutation_p.C107F|CNR1_uc011dzs.1_Missense_Mutation_p.C107F|CNR1_uc003pmq.3_Missense_Mutation_p.C107F|CNR1_uc011dzt.1_Missense_Mutation_p.C107F|CNR1_uc010kca.2_Missense_Mutation_p.C74F	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	107	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GACCATGAAACACTCTATGTC	0.532													A	88854674	C	A	88854674	3	1	98	1	0	0	0	0	1	0	0	0	3631	478	17	5	1102	5	CNR1	6	88854674	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	884042	88854674	82260393	582	64912											
GABRR2	2570	broad.mit.edu	37	chr6	90024932	90024932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctttccagtagcctgtggCagagcaaatcccccctggct	10	14	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:90024932C>T	uc003pnb.2	-	1	36	c.28G>A	c.(28-30)GCC>ACC	p.A10T		NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2	10					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TAGCCTGTGGCAGAGCAAATC	0.517													T	90024932	C	T	90024932	3	4	98	1	0	0	0	0	1	0	0	0	6177	710	25	2	1480	2	GABRR2	6	90024932	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1170258	90024932	81090135	583	64913											
ANKRD6	22881	broad.mit.edu	37	chr6	90312801	90312801	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggggaacacggagatcatCgcggcgctcatccacgaagg	15	11	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:90312801C>T	uc003pni.3	+	4	614	c.273C>T	c.(271-273)ATC>ATT	p.I91I	ANKRD6_uc003pne.3_Silent_p.I91I|ANKRD6_uc003pnf.3_Silent_p.I91I|ANKRD6_uc011dzy.1_Silent_p.I91I|ANKRD6_uc010kcd.2_Silent_p.I91I|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_RNA|ANKRD6_uc003pnh.3_5'UTR	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	91	ANK 3.						protein binding			ovary(2)|pancreas(1)	3		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CGGAGATCATCGCGGCGCTCA	0.612													T	90312801	C	T	90312801	2	4	98	1	0	0	0	0	0	0	0	1	685	874	31	1		1	ANKRD6	6	90312801	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	287869	90312801	80802266	584	64914											
MDN1	23195	broad.mit.edu	37	chr6	90396626	90396626	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgctaggcattaccttccTgttcttctgtttgttcctgc	7	12	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:90396626T>C	uc003pnn.1	-	69	11683	c.11567A>G	c.(11566-11568)CAG>CGG	p.Q3856R		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3856					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATTACCTTCCTGTTCTTCTGT	0.488													C	90396626	T	C	90396626	3	2	98	1	0	0	0	0	1	0	0	0	9415	1580	55	3	5359	3	MDN1	6	90396626	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	83825	90396626	80718441	585	64915											
MDN1	23195	broad.mit.edu	37	chr6	90449993	90449993	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccagggttcatggttgctAgaatacgaaattttttccca	8	10	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:90449993A>G	uc003pnn.1	-	32	4669	c.4553T>C	c.(4552-4554)CTA>CCA	p.L1518P		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1518					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CATGGTTGCTAGAATACGAAA	0.413													G	90449993	A	G	90449993	3	3	98	1	0	0	0	0	1	0	0	0	9415	420	15	3	12521	3	MDN1	6	90449993	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	53367	90449993	80665074	586	64916											
ASCC3	10973	broad.mit.edu	37	chr6	101296505	101296506	+	Frame_Shift_Del	DEL	AC	AC	-													cctttgtttccttgtgaccaAcagagtccttcaagtgaaat							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:101296504_101296505AAC>A	uc003pqk.3	-	3	649_650	c.320_321GTT>T	c.(319-321)gttfs	p.V107fs	ASCC3_uc011eai.1_Frame_Shift_Del_p.V9fs|ASCC3_uc003pql.3_Frame_Shift_Del_p.V107fs|ASCC3_uc010kcv.3_Frame_Shift_Del_p.V107fs	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CCTTGTGACCAACAGAGTCCTT	0.396													-	101296506	AC	-	101296505	7	5	98	1	0	1	0	1	0	0	0	0	1033	43	2	0	6444	0	ASCC3	6	101296505	Frame_Shift_Del	DEL	AC	TCGA-BR-8591-01A-11D-2394-08	10846512	101296505	69818562	587	64917											
REV3L	5980	broad.mit.edu	37	chr6	111696940	111696941	+	Frame_Shift_Ins	INS	-	-	A													tttagttaaatcactagccaINSatgcattatccttctcagga					rs3218594	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:111696939_111696940C>CA	uc003puy.4	-	12	2959_2960	c.2618_2619G>TG	c.(2617-2619)ttgfs	p.L873fs	REV3L_uc003pux.4_Frame_Shift_Ins_p.L795fs|REV3L_uc003puz.4_Frame_Shift_Ins_p.L795fs	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	873					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AATCACTAGCCAATGCATTATC	0.356								DNA polymerases (catalytic subunits)					A	111696941	-	A	111696940	7	5	98	1	0	1	1	0	0	0	0	0	13240	131	5	0	6854	0	REV3L	6	111696940	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	10400435	111696940	59418127	588	64918											
TUBE1	51175	broad.mit.edu	37	chr6	112393106	112393106	+	Splice_Site	DEL	T	T	-													aaagctgtacaataattaccTttttcttgtagagcctcatg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:112393105_112393105CT>C	uc003pvq.3	-	11	1383	c.1269_splice	c.e11+1	p.K423_splice		NM_016262	NP_057346	Q9UJT0	TBE_HUMAN	Homo sapiens tubulin, epsilon 1 (TUBE1), mRNA.	423					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CAATAATTACCTTTTTCTTGT	0.338													-	112393106	T	-	112393106	8	5	98	1	0	1	0	1	0	0	1	0	16760	1623	56	0	167	0	TUBE1	6	112393106	Splice_Site	DEL	T	TCGA-BR-8591-01A-11D-2394-08	696166	112393106	58721961	589	64919											
ZUFSP	221302	broad.mit.edu	37	chr6	116988046	116988046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctttagtcaggttttgagCtgaattttttggatgattag	10	3	2	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:116988046C>T	uc003pxf.1	-	2	556	c.310G>A	c.(310-312)GCT>ACT	p.A104T	ZUFSP_uc010kef.1_Intron	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	104						intracellular	zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AGGTTTTGAGCTGAATTTTTT	0.343													T	116988046	C	T	116988046	3	4	98	1	0	0	0	0	1	0	0	0	18243	797	28	2	1462	2	ZUFSP	6	116988046	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	4594940	116988046	54127021	590	64920											
C6orf170	221322	broad.mit.edu	37	chr6	121629187	121629188	+	Frame_Shift_Del	DEL	CA	CA	-													gcagagagtagtccaattttCacagttgaggacatcagatg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:121629186_121629187TCA>T	uc003pyo.1	-	4	693_694	c.625_626TGA>A	c.(625-627)gaafs	p.E209fs	C6orf170_uc003pyq.1_Non-coding_Transcript	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	209					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		AGTCCAATTTTCACAGTTGAGG	0.342													-	121629188	CA	-	121629187	7	5	98	1	0	1	0	1	0	0	0	0	2344	835	29	0	3260	0	C6orf170	6	121629187	Frame_Shift_Del	DEL	CA	TCGA-BR-8591-01A-11D-2394-08	4641141	121629187	49485880	591	64921											
C6orf170	221322	broad.mit.edu	37	chr6	121642917	121642917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgttgcctatatgctgcCtgaggtatttcacaaattca	8	8	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:121642917C>T	uc003pyo.1	-	2	247	c.179G>A	c.(178-180)AGG>AAG	p.R60K	C6orf170_uc003pyq.1_RNA	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	60					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		TATATGCTGCCTGAGGTATTT	0.338													T	121642917	C	T	121642917	3	4	98	1	0	0	0	0	1	0	0	0	2344	681	24	4	3718	4	C6orf170	6	121642917	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	13730	121642917	49472150	592	64922											
RNF146	81847	broad.mit.edu	37	chr6	127608767	127608767	+	Frame_Shift_Del	DEL	G	G	-													gaactgatcgatcagtagcaGggggtggaacagtgagtgtc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:127608766_127608766AG>A	uc021zes.1	+	2	1144	c.1008_1008AG>A	c.(1006-1008)gcafs	p.A336fs	RNF146_uc021zet.1_Frame_Shift_Del_p.A335fs|RNF146_uc021zeu.1_Frame_Shift_Del_p.A335fs|RNF146_uc021zev.1_Frame_Shift_Del_p.A335fs|RNF146_uc021zew.1_Frame_Shift_Del_p.A336fs|RNF146_uc003qat.3_Frame_Shift_Del_p.A335fs|RNF146_uc021zex.1_Frame_Shift_Del_p.A335fs|RNF146_uc003qaw.3_Frame_Shift_Del_p.A335fs|RNF146_uc003qau.3_Frame_Shift_Del_p.A335fs|RNF146_uc003qav.3_Frame_Shift_Del_p.A336fs|RNF146_uc021zey.1_Frame_Shift_Del_p.A335fs	NM_001242851	NP_001229780	Q9NTX7	RN146_HUMAN	Homo sapiens ring finger protein 146 (RNF146), transcript variant 10, mRNA.	336					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GATCAGTAGCAGGGGGTGGAA	0.463													-	127608767	G	-	127608767	7	5	98	1	0	1	0	1	0	0	0	0	13448	1000	35	0	1008	0	RNF146	6	127608767	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	5965850	127608767	43506300	593	64923											
MED23	9439	broad.mit.edu	37	chr6	131921295	131921295	+	Frame_Shift_Del	DEL	A	A	-													tgaattgaatcagagcctgtAaaaaaatctaaacataaaca							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:131921294_131921294TA>T	uc003qcs.1	-	17	2278	c.2104_2104TA>A	c.(2104-2106)acafs	p.T702fs	MED23_uc003qcq.3_Frame_Shift_Del_p.T708fs|MED23_uc011eca.1_Frame_Shift_Del_p.T343fs|MED23_uc003qct.1_Frame_Shift_Del_p.T708fs	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	702					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TCAGAGCCTGTAAAAAAATCT	0.323													-	131921295	A	-	131921295	7	5	98	1	0	1	0	1	0	0	0	0	9441	359	13	0	2058	0	MED23	6	131921295	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	4312528	131921295	39193772	594	64924											
MOXD1	26002	broad.mit.edu	37	chr6	132695778	132695778	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagatgccttaccgttatacTcttgtcatttatgtcacatg	6	9	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:132695778T>G	uc003qdf.2	-	2	502	c.403A>C	c.(403-405)AGT>CGT	p.S135R	MOXD1_uc003qde.2_Missense_Mutation_p.S67R	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	135	Lumenal (Potential).|DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		ACCGTTATACTCTTGTCATTT	0.343													G	132695778	T	G	132695778	3	3	98	1	0	0	0	0	1	0	0	0	9720	1551	54	5	1482	5	MOXD1	6	132695778	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	774483	132695778	38419289	595	64925											
NMBR	4829	broad.mit.edu	37	chr6	142399736	142399736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccaggaagattgtgtgCgcttttaattaaggtctttg	10	6	2	1	rs147317413	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:142399736C>T	uc003qiu.2	-	2	868	c.727G>A	c.(727-729)GCA>ACA	p.A243T		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	243	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AGATTGTGTGCGCTTTTAATT	0.358													T	142399736	C	T	142399736	3	4	98	1	0	0	0	0	1	0	0	0	10487	768	27	1	453	1	NMBR	6	142399736	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	9703958	142399736	28715331	596	64926											
HIVEP2	3097	broad.mit.edu	37	chr6	143091558	143091558	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggctggagaaagcattcGcttgctacctcccagggtgg	13	11	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:143091558G>A	uc003qjd.2	-	5	5061	c.4318C>T	c.(4318-4320)CGA>TGA	p.R1440*		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAAAGCATTCGCTTGCTACCT	0.517													A	143091558	G	A	143091558	4	1	98	1	0	0	0	0	0	1	0	0	7187	1095	38	1	3046	1	HIVEP2	6	143091558	Nonsense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	691822	143091558	28023509	597	64927											
PHACTR2	9749	broad.mit.edu	37	chr6	144128231	144128231	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actaaatgaatttaaaagcaCagaaatggaagttcatgaag	8	4	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:144128231C>A	uc003qjq.3	+	12	1980	c.1850C>A	c.(1849-1851)ACA>AAA	p.T617K	PHACTR2_uc010khh.2_Missense_Mutation_p.T537K|PHACTR2_uc010khi.2_Missense_Mutation_p.T628K|PHACTR2_uc003qjr.3_Missense_Mutation_p.T548K	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	617							actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TTTAAAAGCACAGAAATGGAA	0.333													A	144128231	C	A	144128231	3	1	98	1	0	0	0	0	1	0	0	0	11810	478	17	5	1946	5	PHACTR2	6	144128231	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1036673	144128231	26986836	598	64928											
PHACTR2	9749	broad.mit.edu	37	chr6	144144816	144144816	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatttcttactccaggtttcAtcgtccataacgaagagtga	7	9	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:144144816A>G	uc003qjq.3	+	13	2025	c.1895A>G	c.(1894-1896)CAT>CGT	p.H632R	PHACTR2_uc010khh.2_Missense_Mutation_p.H552R|PHACTR2_uc010khi.2_Missense_Mutation_p.H643R|PHACTR2_uc003qjr.3_Missense_Mutation_p.H563R	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	632							actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TCCAGGTTTCATCGTCCATAA	0.433													G	144144816	A	G	144144816	3	3	98	1	0	0	0	0	1	0	0	0	11810	217	8	3	1995	3	PHACTR2	6	144144816	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	16585	144144816	26970251	599	64929											
LATS1	9113	broad.mit.edu	37	chr6	150001447	150001447	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctacttttcttgctagacaGacttcaccaaatgctcctat	4	12	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:150001447G>A	uc003qmu.1	-	5	2705	c.2157C>T	c.(2155-2157)GTC>GTT	p.V719V	LATS1_uc010kif.1_Silent_p.V614V|LATS1_uc003qmv.1_Silent_p.V719V	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	719	ATP (By similarity).|Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	p.V719I(1)		lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTGCTAGACAGACTTCACCAA	0.368													A	150001447	G	A	150001447	2	1	98	1	0	0	0	0	0	0	0	1	8646	929	33	4		4	LATS1	6	150001447	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	5856631	150001447	21113620	600	64930											
NUP43	348995	broad.mit.edu	37	chr6	150067127	150067127	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatcacacaataactgatgGtctccttcaaaccctccatc	3	14	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:150067127G>A	uc003qmz.2	-	2	249	c.192C>T	c.(190-192)GAC>GAT	p.D64D	NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Silent_p.D64D	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	64					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			upper_aerodigestive_tract(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		ATAACTGATGGTCTCCTTCAA	0.363													A	150067127	G	A	150067127	2	1	98	1	0	0	0	0	0	0	0	1	10765	1252	44	4		4	NUP43	6	150067127	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	65680	150067127	21047940	601	64931											
SYNE1	23345	broad.mit.edu	37	chr6	152652598	152652598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgccatgaccctgtctgCgtcctttataagcgatttca	7	12	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:152652598C>T	uc010kiw.2	-	78	13824	c.13222G>A	c.(13222-13224)GCA>ACA	p.A4408T	SYNE1_uc003qot.3_Missense_Mutation_p.A4337T|SYNE1_uc003qou.3_Missense_Mutation_p.A4408T|SYNE1_uc010kiz.2_Missense_Mutation_p.A163T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4408	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)		ACCCTGTCTGCGTCCTTTATA	0.512										HNSCC(10;0.0054)			T	152652598	C	T	152652598	3	4	98	1	0	0	0	0	1	0	0	0	15442	768	27	1	13520	1	SYNE1	6	152652598	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2585471	152652598	18462469	602	64932											
ARID1B	57492	broad.mit.edu	37	chr6	157511329	157511329	+	Frame_Shift_Del	DEL	G	G	-													agcccaacaaggacccctttGggggaatgagaaaaggtacg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:157511328_157511328TG>T	uc003qqp.3	+	13	3807	c.3807_3807TG>T	c.(3805-3807)tttfs	p.F1269fs	ARID1B_uc003qqo.3_Frame_Shift_Del_p.F1282fs|ARID1B_uc003qqn.3_Frame_Shift_Del_p.F1322fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1269					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGGACCCCTTTGGGGGAATGA	0.572													-	157511329	G	-	157511329	7	5	98	1	0	1	0	1	0	0	0	0	914	1348	47	0	3905	0	ARID1B	6	157511329	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	4858731	157511329	13603738	603	64933											
SLC22A1	6580	broad.mit.edu	37	chr6	160543354	160543354	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggctgggtgtatgacacGcccggctcttccatcgtcac	12	13	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:160543354G>A	uc003qtc.2	+	1	492	c.387G>A	c.(385-387)ACG>ACA	p.T129T	SLC22A1_uc003qtd.2_Silent_p.T129T	NM_003057	NP_003048	O15245	S22A1_HUMAN	solute carrier family 22 member 1 isoform a	129	Extracellular (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding				0		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TGTATGACACGCCCGGCTCTT	0.562													A	160543354	G	A	160543354	2	1	98	1	0	0	0	0	0	0	0	1	14440	1074	38	1		1	SLC22A1	6	160543354	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3032025	160543354	10571713	604	64934											
MAP3K4	4216	broad.mit.edu	37	chr6	161470396	161470396	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggagctgctagagtacatAgaagcactttatccatcatt	8	8	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:161470396A>G	uc003qtn.2	+	3	1234	c.1092A>G	c.(1090-1092)ATA>ATG	p.I364M	MAP3K4_uc010kkc.1_Missense_Mutation_p.I364M|MAP3K4_uc003qto.2_Missense_Mutation_p.I364M|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Translation_Start_Site	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	364					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TAGAGTACATAGAAGCACTTT	0.438													G	161470396	A	G	161470396	3	3	98	1	0	0	0	0	1	0	0	0	9252	410	15	3	1102	3	MAP3K4	6	161470396	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	927042	161470396	9644671	605	64935											
QKI	9444	broad.mit.edu	37	chr6	163984517	163984517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatcattactgggcctgcgCcggttctcccaccagctgcc	11	16	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:163984517C>T	uc003qui.2	+	6	1251	c.700C>T	c.(700-702)CCG>TCG	p.P234S	QKI_uc003que.2_Missense_Mutation_p.P234S|QKI_uc003quf.2_Missense_Mutation_p.P234S|QKI_uc003qug.2_Missense_Mutation_p.P234S|QKI_uc003quh.2_Missense_Mutation_p.P226S|QKI_uc003quj.2_Missense_Mutation_p.P226S	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform	234					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TGGGCCTGCGCCGGTTCTCCC	0.522													T	163984517	C	T	163984517	3	4	98	1	0	0	0	0	1	0	0	0	12873	739	26	2	722	2	QKI	6	163984517	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2514121	163984517	7130550	606	64936											
C6orf118	168090	broad.mit.edu	37	chr6	165715680	165715680	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgaagccgattcagaAgtttcttcagattacacagg	8	9	4	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:165715680A>G	uc003qum.3	-	2	167	c.131T>C	c.(130-132)CTT>CCT	p.L44P	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	44											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCGATTCAGAAGTTTCTTCAG	0.537													G	165715680	A	G	165715680	3	3	98	1	0	0	0	0	1	0	0	0	2323	72	3	3	1310	3	C6orf118	6	165715680	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1731163	165715680	5399387	607	64937											
PDE10A	10846	broad.mit.edu	37	chr6	165844963	165844963	+	Splice_Site	DEL	A	A	-													aagatttgctgttgcaacctAaaaaaaacaagaaatacata							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:165844962_165844962TA>T	uc003qun.3	-	9	909	c.664_splice	c.e9-1	p.V222_splice	PDE10A_uc011egj.2_Splice_Site|PDE10A_uc011egk.2_Splice_Site_p.V152_splice|PDE10A_uc003quo.3_Splice_Site_p.V232_splice	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	222	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TGTTGCAACCTAAAAAAAACA	0.328													-	165844963	A	-	165844963	8	5	98	1	0	1	0	1	0	0	1	0	11630	377	13	0		0	PDE10A	6	165844963	Splice_Site	DEL	A	TCGA-BR-8591-01A-11D-2394-08	129283	165844963	5270104	608	64938											
FRMD1	79981	broad.mit.edu	37	chr6	168467457	168467457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgacccttccgttttccaCgtagtgctgcactcggagga	10	12	0	1	rs151107075		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:168467457C>T	uc003qwo.3	-	4	504	c.439G>A	c.(439-441)GTG>ATG	p.V147M	FRMD1_uc003qwm.3_5'Flank|FRMD1_uc011egs.1_Translation_Start_Site|FRMD1_uc011egt.1_Missense_Mutation_p.V59M|FRMD1_uc003qwn.3_Missense_Mutation_p.V79M	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	FERM domain containing 1 isoform 1	147	FERM.					cytoskeleton	binding			ovary(1)	1		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCGTTTTCCACGTAGTGCTGC	0.547													T	168467457	C	T	168467457	3	4	98	1	0	0	0	0	1	0	0	0	6049	536	19	1	1242	1	FRMD1	6	168467457	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2622494	168467457	2647610	609	64939											
WDR27	253769	broad.mit.edu	37	chr6	170036601	170036601	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttagaaaacatgtctttgccCtgtaatgcaaatcagtaatt	6	7	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:170036601C>G	uc003qwx.2	-	19	2390	c.1870_splice	c.e19-1	p.G624_splice	WDR27_uc003qwv.1_Intron|WDR27_uc010kkw.1_Splice_Site_p.G624_splice|WDR27_uc003qwy.2_Splice_Site_p.G497_splice			A2RRH5	WDR27_HUMAN	RecName: Full=WD repeat-containing protein 27;											pancreas(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TGTCTTTGCCCTGTAATGCAA	0.303													G	170036601	C	G	170036601	5	3	98	1	0	0	0	0	0	0	1	0	17281	695	24	5	732	5	WDR27	6	170036601	Splice_Site	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1569144	170036601	1078466	610	64940											
FAM120B	84498	broad.mit.edu	37	chr6	170627688	170627688	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcgagaagttcccatgTgttcagaccctgaacccagg	11	13	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:170627688T>C	uc003qxp.2	+	2	1318	c.1210T>C	c.(1210-1212)TGT>CGT	p.C404R	FAM120B_uc003qxo.1_Missense_Mutation_p.C404R|FAM120B_uc011ehd.1_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	404					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AGTTCCCATGTGTTCAGACCC	0.527													C	170627688	T	C	170627688	3	2	98	1	0	0	0	0	1	0	0	0	5417	1696	59	3	1212	3	FAM120B	6	170627688	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	591087	170627688	487379	611	64941											
CARD11	84433	broad.mit.edu	37	chr7	2949685	2949685	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggggtctgggagccctaccTgaacctcttgatgttcttct	11	11	4	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:2949685T>C	uc003smv.2	-	24	3663	c.3259A>G	c.(3259-3261)AGA>GGA	p.R1087G		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1087	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GAGCCCTACCTGAACCTCTTG	0.592			Mis		DLBCL								C	2949685	T	C	2949685	3	2	98	1	0	0	0	0	1	0	0	0	2645	1594	55	3	213	3	CARD11	7	2949685	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08		2949685	156188978	612	64942											
DAGLB	221955	broad.mit.edu	37	chr7	6474591	6474591	+	Frame_Shift_Del	DEL	C	C	-													gaggaatatggagccattttCcccccaagagggtcaaagac							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:6474590_6474590TC>T	uc003sqa.3	-	3	651	c.481_481GA>A	c.(481-483)aaafs	p.K161fs	DAGLB_uc011jwt.2_5'UTR|DAGLB_uc011jwu.2_Intron|DAGLB_uc003sqb.3_Intron|DAGLB_uc003sqc.3_Intron|DAGLB_uc011jwv.2_Non-coding_Transcript|DAGLB_uc003sqd.4_Frame_Shift_Del_p.K120fs|DAGLB_uc011jww.1_Intron	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.	161					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGAGCCATTTTCCCCCCAAGA	0.522													-	6474591	C	-	6474591	7	5	98	1	0	1	0	1	0	0	0	0	4227	842	30	0	1586	0	DAGLB	7	6474591	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	3524906	6474591	152664072	613	64943											
DAGLB	221955	broad.mit.edu	37	chr7	6474614	6474614	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaagagggtcaaagacaaTgataatggaaaccactgtgg	11	8	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:6474614T>C	uc003sqa.2	-	4	627	c.457A>G	c.(457-459)ATT>GTT	p.I153V	DAGLB_uc011jwt.1_5'Flank|DAGLB_uc011jwu.1_Intron|DAGLB_uc003sqb.2_Intron|DAGLB_uc003sqc.2_Intron|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.I112V|DAGLB_uc011jww.1_Intron	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	153	Helical; (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TCAAAGACAATGATAATGGAA	0.537													C	6474614	T	C	6474614	3	2	98	1	0	0	0	0	1	0	0	0	4227	1464	51	3	1609	3	DAGLB	7	6474614	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	23	6474614	152664049	614	64944											
THSD7A	221981	broad.mit.edu	37	chr7	11676525	11676525	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccctccacatgagcacacCacacagccctcgtttggatg	7	16	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:11676525C>T	uc003ssf.3	-	2	506	c.254G>A	c.(253-255)TGG>TAG	p.W85*		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	85	TSP type-1 1.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATGAGCACACCACACAGCCCT	0.478										HNSCC(18;0.044)			T	11676525	C	T	11676525	4	4	98	1	0	0	0	0	0	1	0	0	15876	595	21	4	4823	4	THSD7A	7	11676525	Nonsense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	5201911	11676525	147462138	615	64945											
SCIN	85477	broad.mit.edu	37	chr7	12680083	12680083	+	Frame_Shift_Del	DEL	C	C	-													aaggaggtcaggcacctgctCcccctacacgcctctttcaa							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:12680083delC	uc003ssn.3	+	11	1732	c.1522delC	c.(1522-1524)CCCfs	p.P508fs	SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Frame_Shift_Del_p.P261fs	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN	scinderin isoform 1	508	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GGCACCTGCTCCCCCTACACG	0.458													-	12680083	C	-	12680083	7	5	98	1	0	1	0	1	0	0	0	0	13905	855	30	0	1564	0	SCIN	7	12680083	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	1003558	12680083	146458580	616	64946											
NUPL2	11097	broad.mit.edu	37	chr7	23235487	23235487	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatttcaccagaggaattgAggcttgaataccataacttc	7	9	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:23235487A>G	uc003svu.2	+	4	734	c.475A>G	c.(475-477)AGG>GGG	p.R159G	NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_Missense_Mutation_p.R36G|NUPL2_uc011jyw.1_Intron|NUPL2_uc003svx.2_Missense_Mutation_p.R36G|NUPL2_uc011jyx.1_5'UTR	NM_007342	NP_031368	O15504	NUPL2_HUMAN	nucleoporin like 2	159	Interaction with HIV-1 Vpr.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			skin(2)|ovary(1)	3						AGAGGAATTGAGGCTTGAATA	0.328													G	23235487	A	G	23235487	3	3	98	1	0	0	0	0	1	0	0	0	10775	295	11	3	489	3	NUPL2	7	23235487	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	10555404	23235487	135903176	617	64947											
HOXA2	3199	broad.mit.edu	37	chr7	27140493	27140493	+	Frame_Shift_Del	DEL	A	A	-													gcaggcaggaatctgtggagAaaacgctaaagtcctgcaaa							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:27140492_27140492GA>G	uc003syh.3	-	1	1259	c.984_984TC>C	c.(982-984)ttcfs	p.F328fs	HOXA2_uc022aaq.1_3'UTR	NM_006735	NP_006726	O43364	HXA2_HUMAN	Homo sapiens homeobox A2 (HOXA2), mRNA.	328						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AATCTGTGGAGAAAACGCTAA	0.507													-	27140493	A	-	27140493	7	5	98	1	0	1	0	1	0	0	0	0	7292	246	9	0	151	0	HOXA2	7	27140493	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	3905006	27140493	131998170	618	64948											
HOXA9	3205	broad.mit.edu	37	chr7	27204803	27204803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgggcgcctgggggtgcaCgtaggggtggtggtgatggt	22	7	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:27204803C>T	uc003syt.2	-	1	347	c.274G>A	c.(274-276)GTG>ATG	p.V92M		NM_152739	NP_689952	P31269	HXA9_HUMAN	homeobox A9	92							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)	2						TGGGGGTGCACGTAGGGGTGG	0.731			T	NUP98|MSI2	AML*								T	27204803	C	T	27204803	3	4	98	1	0	0	0	0	1	0	0	0	7298	536	19	1	552	1	HOXA9	7	27204803	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	64310	27204803	131933860	619	64949											
EPDR1	54749	broad.mit.edu	37	chr7	37960482	37960482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggagccactctgatcccGgacgcctcagcgcccccttg	12	18	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:37960482G>A	uc003tfp.2	+	1	320	c.301G>A	c.(301-303)GGA>AGA	p.G101R	EPDR1_uc003tfq.2_Missense_Mutation_p.G101R|EPDR1_uc010kxh.2_5'Flank	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	Error:Variant_position_missing_in_Q9UM22_after_alignment					cell-matrix adhesion	extracellular region	calcium ion binding			upper_aerodigestive_tract(1)	1						CTCTGATCCCGGACGCCTCAG	0.701													A	37960482	G	A	37960482	3	1	98	1	0	0	0	0	1	0	0	0	5163	1117	39	1	303	1	EPDR1	7	37960482	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	10755679	37960482	121178181	620	64950											
ZMIZ2	83637	broad.mit.edu	37	chr7	44804020	44804020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcccatctctctacagtgCtttgacctggagtcgtacct	7	14	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:44804020C>T	uc003tlr.2	+	14	1986	c.1863C>T	c.(1861-1863)TGC>TGT	p.C621C	ZMIZ2_uc003tlq.2_Silent_p.C563C|ZMIZ2_uc003tls.2_Silent_p.C595C|ZMIZ2_uc003tlt.2_Silent_p.C244C|ZMIZ2_uc010kyj.2_Silent_p.C143C|ZMIZ2_uc003tlu.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	621	SP-RING-type.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						CTCTACAGTGCTTTGACCTGG	0.438													T	44804020	C	T	44804020	2	4	98	1	0	0	0	0	0	0	0	1	17694	805	28	2		2	ZMIZ2	7	44804020	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	6843538	44804020	114334643	621	64951											
MYO1G	64005	broad.mit.edu	37	chr7	45006354	45006354	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccagcagccccaggtatgcGacctggtggcgacagtggtt	14	12	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:45006354G>A	uc003tmh.2	-	15	2010	c.1866C>T	c.(1864-1866)GTC>GTT	p.V622V	MYO1G_uc003tmf.2_Silent_p.V65V|MYO1G_uc003tmg.2_Silent_p.V384V|MYO1G_uc010kym.2_Silent_p.V507V|MYO1G_uc003tmi.1_Silent_p.V534V	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	myosin IG	622	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|ovary(1)|pancreas(1)	4						CCAGGTATGCGACCTGGTGGC	0.617													A	45006354	G	A	45006354	2	1	98	1	0	0	0	0	0	0	0	1	10074	1045	37	1		1	MYO1G	7	45006354	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	202334	45006354	114132309	622	64952											
POM121L12	285877	broad.mit.edu	37	chr7	53103741	53103741	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgaaaggggggctgtgtcGtgcctggaacccaggacgga	17	9	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:53103741G>T	uc003tpz.2	+	1	393	c.377G>T	c.(376-378)CGT>CTT	p.R126L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	126											0						GGGCTGTGTCGTGCCTGGAAC	0.672													T	53103741	G	T	53103741	3	4	98	1	0	0	0	0	1	0	0	0	12241	1145	40	5	379	5	POM121L12	7	53103741	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	8097387	53103741	106034922	623	64953											
POM121L12	285877	broad.mit.edu	37	chr7	53103870	53103870	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgccccgccgcccaggagcTcctggacccctgcacccggg	12	22	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:53103870T>C	uc003tpz.2	+	1	522	c.506T>C	c.(505-507)CTC>CCC	p.L169P		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	169											0						gcccAGGAGCTCCTGGACCCC	0.582													C	53103870	T	C	53103870	3	2	98	1	0	0	0	0	1	0	0	0	12241	1551	54	3	508	3	POM121L12	7	53103870	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	129	53103870	106034793	624	64954											
SEPT14	346288	broad.mit.edu	37	chr7	55914312	55914312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaatcgtagttaaacaacGaatattattttctttttgct	4	7	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:55914312G>A	uc003tqz.2	-	3	190	c.73C>T	c.(73-75)CGT>TGT	p.R25C		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	septin 14	25					cell cycle|cell division	septin complex	GTP binding|protein binding				0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTTAAACAACGAATATTATTT	0.284													A	55914312	G	A	55914312	3	1	98	1	0	0	0	0	1	0	0	0	14063	1058	37	1	1257	1	SEPT14	7	55914312	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2810442	55914312	103224351	625	64955											
ASL	435	broad.mit.edu	37	chr7	65557610	65557610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgagaccaagggggtcGccctcaaccagctgtcactg	13	14	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:65557610G>A	uc003tuo.2	+	16	1321	c.1210G>A	c.(1210-1212)GCC>ACC	p.A404T	ASL_uc003tup.2_Missense_Mutation_p.A404T|ASL_uc003tur.2_Missense_Mutation_p.A378T|ASL_uc003tuq.2_Missense_Mutation_p.A384T	NM_000048	NP_000039	P04424	ARLY_HUMAN	argininosuccinate lyase isoform 1	404					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(2)	2					L-Arginine(DB00125)	CAAGGGGGTCGCCCTCAACCA	0.652													A	65557610	G	A	65557610	3	1	98	1	0	0	0	0	1	0	0	0	1044	1087	38	1	1268	1	ASL	7	65557610	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	9643298	65557610	93581053	626	64956											
PTPN12	5782	broad.mit.edu	37	chr7	77236553	77236553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaactttatatccttagtGcaggctgtggaagaacaggt	10	7	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:77236553G>A	uc003ugh.2	+	9	788	c.697G>A	c.(697-699)GCA>ACA	p.A233T	PTPN12_uc011kgp.1_Missense_Mutation_p.A114T|PTPN12_uc011kgq.1_Missense_Mutation_p.A103T|PTPN12_uc010lds.2_5'UTR	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	233	Substrate binding (By similarity).|Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3						TATCCTTAGTGCAGGCTGTGG	0.294													A	77236553	G	A	77236553	3	1	98	1	0	0	0	0	1	0	0	0	12781	1333	46	2	731	2	PTPN12	7	77236553	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	11678943	77236553	81902110	627	64957											
PHTF2	57157	broad.mit.edu	37	chr7	77569913	77569913	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctcgaaaatctgaggttccTcatttccggttgaagaaagt	10	8	2	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:77569913T>A	uc003ugs.3	+	14	1935	c.1809T>A	c.(1807-1809)CCT>CCA	p.P603P	PHTF2_uc003ugq.3_Silent_p.P565P|PHTF2_uc010ldv.2_Silent_p.P565P|PHTF2_uc003ugt.3_Silent_p.P569P|PHTF2_uc003ugu.3_Silent_p.P565P	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	603					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1						CTGAGGTTCCTCATTTCCGGT	0.358													A	77569913	T	A	77569913	2	1	98	1	0	0	0	0	0	0	0	1	11863	1538	54	5		5	PHTF2	7	77569913	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	333360	77569913	81568750	628	64958											
PCLO	27445	broad.mit.edu	37	chr7	82583831	82583831	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttctcttgtataatcggtTacatattcatcctcaatttc	3	9	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:82583831T>C	uc003uhx.2	-	5	6727	c.6438A>G	c.(6436-6438)GTA>GTG	p.V2146V	PCLO_uc003uhv.2_Silent_p.V2146V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2077					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TATAATCGGTTACATATTCAT	0.413													C	82583831	T	C	82583831	2	2	98	1	0	0	0	0	0	0	0	1	11583	1741	61	3		3	PCLO	7	82583831	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	5013918	82583831	76554832	629	64959											
PCLO	27445	broad.mit.edu	37	chr7	82784516	82784516	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgggccaggctgttgagGtgggggctttgctgggccag	20	8	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:82784516G>T	uc003uhx.2	-	2	1730	c.1441C>A	c.(1441-1443)CCT>ACT	p.P481T	PCLO_uc003uhv.2_Missense_Mutation_p.P481T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GGCTGTTGAGGTGGGGGCTTT	0.597													T	82784516	G	T	82784516	3	4	98	1	0	0	0	0	1	0	0	0	11583	1261	44	5	14100	5	PCLO	7	82784516	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	200685	82784516	76354147	630	64960											
GRM3	2913	broad.mit.edu	37	chr7	86416293	86416293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatcatgtttgtggtgaaCgcggtgtatgccatggccca	13	8	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:86416293C>T	uc003uid.2	+	3	2284	c.1185C>T	c.(1183-1185)AAC>AAT	p.N395N	GRM3_uc010lef.2_Silent_p.N393N|GRM3_uc010leg.2_Silent_p.N267N|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	395	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTGTGGTGAACGCGGTGTATG	0.542													T	86416293	C	T	86416293	2	4	98	1	0	0	0	0	0	0	0	1	6798	535	19	1		1	GRM3	7	86416293	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3631777	86416293	72722370	631	64961											
RUNDC3B	154661	broad.mit.edu	37	chr7	87329769	87329769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtttggttatgaaagtcctCgtagcttctgggactatatc	11	7	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:87329769C>T	uc003ujb.2	+	4	733	c.322C>T	c.(322-324)CGT>TGT	p.R108C	ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.R91C|RUNDC3B_uc011khe.1_Missense_Mutation_p.R91C|RUNDC3B_uc003ujc.2_Missense_Mutation_p.R91C|RUNDC3B_uc003ujd.2_Missense_Mutation_p.R13C	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	108	RUN.									skin(1)	1	Esophageal squamous(14;0.00164)					TGAAAGTCCTCGTAGCTTCTG	0.348													T	87329769	C	T	87329769	3	4	98	1	0	0	0	0	1	0	0	0	13745	884	31	1	336	1	RUNDC3B	7	87329769	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	913476	87329769	71808894	632	64962											
AKAP9	10142	broad.mit.edu	37	chr7	91732039	91732039	+	Frame_Shift_Del	DEL	G	G	-													ttggccctgcttgcccggatGggggggcagccagctttcac							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:91732038_91732038TG>T	uc003ulg.3	+	45	11453	c.11228_11228TG>T	c.(11227-11229)atgfs	p.M3743fs	AKAP9_uc003ulf.3_Frame_Shift_Del_p.M3735fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.M3366fs|AKAP9_uc003ulj.3_Frame_Shift_Del_p.M1513fs|AKAP9_uc003ull.3_Frame_Shift_Del_p.M639fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3747					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAG	0.537			T	BRAF	papillary thyroid								-	91732039	G	-	91732039	7	5	98	1	0	1	0	1	0	0	0	0	459	1348	47	0	11411	0	AKAP9	7	91732039	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	4402270	91732039	67406624	633	64963											
DLX5	1749	broad.mit.edu	37	chr7	96653787	96653787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcggggctccccccgtaGggctgtagtagtcagaatcg	15	12	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:96653787G>A	uc003uon.2	-	1	357	c.149C>T	c.(148-150)CCT>CTT	p.P50L	DLX5_uc011kim.1_Missense_Mutation_p.P50L	NM_005221	NP_005212	P56178	DLX5_HUMAN	distal-less homeobox 5	50					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TCCCCCCGTAGGGCTGTAGTA	0.582													A	96653787	G	A	96653787	3	1	98	1	0	0	0	0	1	0	0	0	4574	1000	35	4	732	4	DLX5	7	96653787	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	4921748	96653787	62484876	634	64964											
TECPR1	25851	broad.mit.edu	37	chr7	97860431	97860431	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaggctgagcagggcgagCtggtgtggcacaatgccggt	18	9	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:97860431C>T	uc003upg.2	-	15	2330	c.2125_splice	c.e15-1	p.L709_splice	TECPR1_uc003uph.1_Splice_Site_p.L639_splice	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1							integral to membrane	protein binding			pancreas(1)	1						GCAGGGCGAGCTGGTGTGGCA	0.612													T	97860431	C	T	97860431	5	4	98	1	0	0	0	0	0	0	1	0	15740	811	28	2	1421	2	TECPR1	7	97860431	Splice_Site	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1206644	97860431	61278232	635	64965											
TRRAP	8295	broad.mit.edu	37	chr7	98531020	98531020	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagcataaggtgttctacAcagaggtaggggggtggtgg	19	4	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:98531020A>G	uc003upp.2	+	27	4218	c.4009A>G	c.(4009-4011)ACA>GCA	p.T1337A	TRRAP_uc011kis.1_Missense_Mutation_p.T1337A|TRRAP_uc003upr.2_Missense_Mutation_p.T1029A	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1337					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTGTTCTACACAGAGGTAGG	0.557													G	98531020	A	G	98531020	3	3	98	1	0	0	0	0	1	0	0	0	16598	159	6	3	4111	3	TRRAP	7	98531020	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	670589	98531020	60607643	636	64966											
BUD31	8896	broad.mit.edu	37	chr7	99015149	99015149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttgtgctgcctgcggtgCattcagacacgggacaccaa	11	12	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:99015149C>T	uc003uqf.2	+	5	516	c.315C>T	c.(313-315)TGC>TGT	p.C105C	BUD31_uc011kiu.1_Silent_p.C105C|BUD31_uc011kiv.1_Silent_p.C105C|BUD31_uc003uqg.3_Silent_p.C105C	NM_003910	NP_003901	P41223	BUD31_HUMAN	G10 protein	105					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCCTGCGGTGCATTCAGACAC	0.458													T	99015149	C	T	99015149	2	4	98	1	0	0	0	0	0	0	0	1	1574	718	25	2		2	BUD31	7	99015149	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	484129	99015149	60123514	637	64967											
ZAN	7455	broad.mit.edu	37	chr7	100377177	100377177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgcgggaaaagtgcgagGcagcgctccgggctcctgtg	19	11	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:100377177G>A	uc003uwj.2	+	36	6592	c.6427G>A	c.(6427-6429)GCA>ACA	p.A2143T	ZAN_uc003uwk.2_Missense_Mutation_p.A2143T|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.A230T	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	2143	Extracellular (Potential).|VWFD 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AAAGTGCGAGGCAGCGCTCCG	0.642													A	100377177	G	A	100377177	3	1	98	1	0	0	0	0	1	0	0	0	17510	1203	42	2	6560	2	ZAN	7	100377177	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1362028	100377177	58761486	638	64968											
SRRT	51593	broad.mit.edu	37	chr7	100479332	100479333	+	Frame_Shift_Ins	INS	-	-	G													ctatgagatgccctatgctgINSgggggggtgggggcccaact							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:100479331_100479332T>TG	uc003uwy.2	+	3	570_571	c.303_304T>TG	c.(301-306)gctgggfs	p.A101fs	SRRT_uc010lhl.1_Frame_Shift_Ins_p.A101fs|SRRT_uc003uxa.2_Frame_Shift_Ins_p.A101fs|SRRT_uc003uwz.2_Frame_Shift_Ins_p.A101fs	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	101					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.G104fs*45(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGCCCTATGCTGGGGGGGGTGG	0.609													G	100479333	-	G	100479332	7	5	98	1	0	1	1	0	0	0	0	0	15171	1348	47	0	314	0	SRRT	7	100479332	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	102155	100479332	58659331	639	64969											
MUC17	140453	broad.mit.edu	37	chr7	100684572	100684572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgcctgtcagcaccacaaCggtggccagttctgaaacga	10	12	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:100684572C>T	uc003uxp.1	+	3	9928	c.9875C>T	c.(9874-9876)ACG>ATG	p.T3292M	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3292	Extracellular (Potential).|Ser-rich.|53.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCACCACAACGGTGGCCAGT	0.512													T	100684572	C	T	100684572	3	4	98	1	0	0	0	0	1	0	0	0	9974	536	19	1	9885	1	MUC17	7	100684572	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	205240	100684572	58454091	640	64970											
TRIM56	81844	broad.mit.edu	37	chr7	100732838	100732838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgggaccatccacatctttCgggtccgttctccggacagt	10	14	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:100732838C>T	uc003uxq.2	+	3	2476	c.2245C>T	c.(2245-2247)CGG>TGG	p.R749W	TRIM56_uc003uxr.2_Intron	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	749					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					CCACATCTTTCGGGTCCGTTC	0.617													T	100732838	C	T	100732838	3	4	98	1	0	0	0	0	1	0	0	0	16527	875	31	1	2247	1	TRIM56	7	100732838	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	48266	100732838	58405825	641	64971											
CUX1	1523	broad.mit.edu	37	chr7	101870784	101870785	+	Frame_Shift_Ins	INS	-	-	C													gagcaaggacagcaagccacINScagagcccagtgacccgcca							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:101870783_101870784A>AC	uc003uys.4	+	20	3427_3428	c.3300_3301A>AC	c.(3298-3303)ccaccafs	p.P1100fs	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Frame_Shift_Ins_p.P1089fs	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1089					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ACAGCAAGCCACCAGAGCCCAG	0.639													C	101870785	-	C	101870784	7	5	98	1	0	1	1	0	0	0	0	0	4064	507	18	0	3417	0	CUX1	7	101870784	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	1137946	101870784	57267879	642	64972											
RELN	5649	broad.mit.edu	37	chr7	103243938	103243938	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttggtacccctggtcacacCtatgagagagcagggctgag	13	11	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:103243938C>A	uc003vca.2	-	24	3307	c.3147_splice	c.e24-1	p.R1049_splice	RELN_uc010liz.2_Splice_Site_p.R1049_splice	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a						axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGGTCACACCTATGAGAGAG	0.532													A	103243938	C	A	103243938	5	1	98	1	0	0	0	0	0	0	1	0	13220	695	24	5	7404	5	RELN	7	103243938	Splice_Site	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1373154	103243938	55894725	643	64973											
LAMB1	3912	broad.mit.edu	37	chr7	107566694	107566694	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaatatattctgcctccccGgagttttgggcagctttccg	9	12	2	0	rs147490680	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:107566694G>T	uc003vew.2	-	32	5333	c.4998C>A	c.(4996-4998)TCC>TCA	p.S1666S	LAMB1_uc003vev.2_Silent_p.S1690S|LAMB1_uc003veu.2_Silent_p.S149S	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	1666	Potential.|Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCCTCCCCGGAGTTTTGGG	0.428													T	107566694	G	T	107566694	2	4	98	1	0	0	0	0	0	0	0	1	8610	1103	39	5		5	LAMB1	7	107566694	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	4322756	107566694	51571969	644	64974											
LRRN3	54674	broad.mit.edu	37	chr7	110763653	110763653	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatcctattaatagaatAcgaaggggtgattttagcaa	8	4	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:110763653A>G	uc003vft.3	+	4	1871	c.825A>G	c.(823-825)ATA>ATG	p.I275M	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.I275M|LRRN3_uc003vfs.3_Missense_Mutation_p.I275M	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	275	Extracellular (Potential).|LRR 9.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TTAATAGAATACGAAGGGGTG	0.338													G	110763653	A	G	110763653	3	3	98	1	0	0	0	0	1	0	0	0	9036	381	14	3	827	3	LRRN3	7	110763653	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	3196959	110763653	48375010	645	64975											
DOCK4	9732	broad.mit.edu	37	chr7	111368395	111368395	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggtcagtcctccgggcccCattctccaggtggctggatc	14	14	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:111368395C>A	uc003vfx.2	-	52	6105	c.5836G>T	c.(5836-5838)GGG>TGG	p.G1946W	DOCK4_uc011kml.1_Missense_Mutation_p.G827W|DOCK4_uc011kmm.1_Missense_Mutation_p.G815W|DOCK4_uc003vfw.2_Missense_Mutation_p.G1358W|DOCK4_uc003vfy.2_Missense_Mutation_p.G1991W|DOCK4_uc003vfv.2_Missense_Mutation_p.G259W	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1946	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				CTCCGGGCCCCATTCTCCAGG	0.667													A	111368395	C	A	111368395	3	1	98	1	0	0	0	0	1	0	0	0	4689	594	21	5	68	5	DOCK4	7	111368395	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	604742	111368395	47770268	646	64976											
ZNF277	11179	broad.mit.edu	37	chr7	111958267	111958267	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaacaacagcagcaagaaCgaaatgataccaattttcat	7	8	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:111958267C>T	uc003vge.2	+	5	625	c.496C>T	c.(496-498)CGA>TGA	p.R166*	ZNF277_uc003vgd.2_Nonsense_Mutation_p.R166*|ZNF277_uc003vgf.2_Nonsense_Mutation_p.R88*|ZNF277_uc003vgg.2_Translation_Start_Site	NM_021994	NP_068834	Q9NRM2	ZN277_HUMAN	zinc finger protein (C2H2 type) 277	166						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(2)	4						GCAGCAAGAACGAAATGATAC	0.323													T	111958267	C	T	111958267	4	4	98	1	0	0	0	0	0	1	0	0	17809	528	19	1	514	1	ZNF277	7	111958267	Nonsense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	589872	111958267	47180396	647	64977											
C7orf58	79974	broad.mit.edu	37	chr7	120884391	120884391	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgcctgggaggaaggaAggtaggttctggatctagtg	18	5	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:120884391A>G	uc003vjq.3	+	18	2756	c.2309A>G	c.(2308-2310)AAG>AGG	p.K770R	C7orf58_uc003vjs.3_Missense_Mutation_p.K770R|C7orf58_uc003vjt.3_Missense_Mutation_p.K550R	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	770						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					GGAGGAAGGAAGGTAGGTTCT	0.478													G	120884391	A	G	120884391	3	3	98	1	0	0	0	0	1	0	0	0	2405	86	3	3	2375	3	C7orf58	7	120884391	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	8926124	120884391	38254272	648	64978											
WNT16	51384	broad.mit.edu	37	chr7	120979305	120979305	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttacaacacccatgtggtcaGgcacgtggagaggtgtgagt	14	8	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:120979305G>T	uc003vjw.2	+	4	1261	c.1004G>T	c.(1003-1005)AGG>ATG	p.R335M	WNT16_uc003vjv.2_Missense_Mutation_p.R325M|WNT16_uc010lkl.2_Missense_Mutation_p.R119M	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family,	335					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			lung(2)|ovary(2)|large_intestine(1)	5	all_neural(327;0.117)					CATGTGGTCAGGCACGTGGAG	0.537													T	120979305	G	T	120979305	3	4	98	1	0	0	0	0	1	0	0	0	17382	1000	35	5	1087	5	WNT16	7	120979305	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	94914	120979305	38159358	649	64979											
PTPRZ1	5803	broad.mit.edu	37	chr7	121652619	121652619	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttattttatgagacctcAgcttcttttagtactgaagt	6	8	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:121652619A>C	uc003vjy.2	+	12	3914	c.3519A>C	c.(3517-3519)TCA>TCC	p.S1173S	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1173	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						ATGAGACCTCAGCTTCTTTTA	0.428													C	121652619	A	C	121652619	2	2	98	1	0	0	0	0	0	0	0	1	12814	175	7	5		5	PTPRZ1	7	121652619	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	673314	121652619	37486044	650	64980											
IQUB	154865	broad.mit.edu	37	chr7	123101557	123101557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttacgacaccggtatatgcGgcgtgaggtggatgatacag	15	7	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:123101557G>A	uc003vkn.2	-	11	2438	c.1861C>T	c.(1861-1863)CGC>TGC	p.R621C	IQUB_uc011kny.1_5'UTR|IQUB_uc003vko.2_Missense_Mutation_p.R621C|IQUB_uc010lkt.2_RNA	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	621										ovary(3)|large_intestine(1)	4						CGGTATATGCGGCGTGAGGTG	0.383													A	123101557	G	A	123101557	3	1	98	1	0	0	0	0	1	0	0	0	7820	1116	39	1	526	1	IQUB	7	123101557	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1448938	123101557	36037106	651	64981											
SND1	27044	broad.mit.edu	37	chr7	127724828	127724828	+	Frame_Shift_Del	DEL	C	C	-													cgcaatgacattgccagtcaCccccctgtagagggctccta							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:127724828delC	uc003vmi.2	+	19	2389	c.2163delC	c.(2161-2163)CACfs	p.H721fs	SND1_uc010lle.2_Frame_Shift_Del_p.H374fs	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	721					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						TTGCCAGTCACCCCCCTGTAG	0.557													-	127724828	C	-	127724828	7	5	98	1	0	1	0	1	0	0	0	0	14844	506	18	0	2237	0	SND1	7	127724828	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	4623271	127724828	31413835	652	64982											
FLNC	2318	broad.mit.edu	37	chr7	128488744	128488744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgacgcacgggacgcgggCgaggggttgctcactgtcca	16	12	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:128488744C>T	uc003vnz.3	+	27	4919	c.4710C>T	c.(4708-4710)GGC>GGT	p.G1570G	FLNC_uc003voa.3_Silent_p.G1570G	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1570	Filamin 14.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GGGACGCGGGCGAGGGGTTGC	0.657													T	128488744	C	T	128488744	2	4	98	1	0	0	0	0	0	0	0	1	5935	755	27	1		1	FLNC	7	128488744	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	763916	128488744	30649919	653	64983											
PLXNA4	91584	broad.mit.edu	37	chr7	132193357	132193357	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccgctgcttctgggacagCggggctggctgccgggtgag	19	11	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:132193357C>T	uc003vra.3	-	2	325	c.96G>A	c.(94-96)CCG>CCA	p.P32P	PLXNA4_uc003vrc.2_Silent_p.P32P|PLXNA4_uc003vrb.2_Silent_p.P32P	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	32	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						TCTGGGACAGCGGGGCTGGCT	0.597													T	132193357	C	T	132193357	2	4	98	1	0	0	0	0	0	0	0	1	12122	755	27	1		1	PLXNA4	7	132193357	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3704613	132193357	26945306	654	64984											
C7orf49	78996	broad.mit.edu	37	chr7	134851448	134851448	+	Frame_Shift_Del	DEL	C	C	-													tgctacaggcagagctggaaCcccccggcctctgggaaggg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:134851447_134851447AC>A	uc003vsl.3	-	3	703	c.390_390GT>T	c.(388-390)ggtfs	p.G130fs	C7orf49_uc003vsh.3_Intron|C7orf49_uc003vsj.3_Frame_Shift_Del_p.G101fs|C7orf49_uc022alz.1_3'UTR|C7orf49_uc022ama.1_Frame_Shift_Del_p.G75fs|C7orf49_uc022amb.1_3'UTR|C7orf49_uc003vsm.3_3'UTR|C7orf49_uc003vso.3_Frame_Shift_Del_p.G75fs|C7orf49_uc003vsk.3_3'UTR	NM_024033	NP_001230684	Q9BWK5	MRI_HUMAN	Homo sapiens chromosome 7 open reading frame 49 (C7orf49), transcript variant 1, mRNA.	130						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						CAGAGCTGGAACCCCCCGGCC	0.592													-	134851448	C	-	134851448	7	5	98	1	0	1	0	1	0	0	0	0	2398	507	18	0	88	0	C7orf49	7	134851448	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	2658091	134851448	24287215	655	64985											
SLC13A4	26266	broad.mit.edu	37	chr7	135376308	135376308	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctcaccatcattcttttTcccaaagcagggcttcttcg	5	14	5	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:135376308T>C	uc003vta.2	-	12	1995	c.1306A>G	c.(1306-1308)AAA>GAA	p.K436E	SLC13A4_uc003vtb.2_Missense_Mutation_p.K437E|PL-5283_uc003vsz.3_Intron	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate	436						integral to plasma membrane	sodium:sulfate symporter activity				0						TCATTCTTTTTCCCAAAGCAG	0.458													C	135376308	T	C	135376308	3	2	98	1	0	0	0	0	1	0	0	0	14394	1792	62	3	594	3	SLC13A4	7	135376308	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	524860	135376308	23762355	656	64986											
CHRM2	1129	broad.mit.edu	37	chr7	136700051	136700051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtatgatgattgcagctGcctgggtcctctctttcatc	10	11	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:136700051G>A	uc003vtf.1	+	4	1062	c.439G>A	c.(439-441)GCC>ACC	p.A147T	CHRM2_uc003vtg.1_Missense_Mutation_p.A147T|CHRM2_uc003vtj.1_Missense_Mutation_p.A147T|CHRM2_uc003vtk.1_Missense_Mutation_p.A147T|CHRM2_uc003vtl.1_Missense_Mutation_p.A147T|CHRM2_uc003vtm.1_Missense_Mutation_p.A147T|CHRM2_uc003vti.1_Missense_Mutation_p.A147T|CHRM2_uc003vto.1_Missense_Mutation_p.A147T|CHRM2_uc003vtn.1_Missense_Mutation_p.A147T|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	147	Helical; Name=4; (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GATTGCAGCTGCCTGGGTCCT	0.502													A	136700051	G	A	136700051	3	1	98	1	0	0	0	0	1	0	0	0	3377	1319	46	2	441	2	CHRM2	7	136700051	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1323743	136700051	22438612	657	64987											
KIAA1549	57670	broad.mit.edu	37	chr7	138601643	138601643	+	Frame_Shift_Del	DEL	G	G	-													gaggagcagcactactctctGgggggctctgacttgcggcg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:138601643delG	uc011kql.1	-	2	2778	c.2729delC	c.(2728-2730)CCAfs	p.P910fs	KIAA1549_uc003vuk.3_Frame_Shift_Del_p.P860fs|KIAA1549_uc011kqj.1_Frame_Shift_Del_p.P910fs	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	910						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						ACTACTCTCTGGGGGGCTCTG	0.627			O	BRAF	pilocytic astrocytoma								-	138601643	G	-	138601643	7	5	98	1	0	1	0	1	0	0	0	0	8244	1348	47	0	3199	0	KIAA1549	7	138601643	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	1901592	138601643	20537020	658	64988											
PARP12	64761	broad.mit.edu	37	chr7	139746769	139746769	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctctatccaagaattgccAtcgatacggcaaatggaaat	8	10	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:139746769A>G	uc003vvl.1	-	5	1775	c.901T>C	c.(901-903)TGG>CGG	p.W301R	PARP12_uc003vvk.1_Missense_Mutation_p.W87R|PARP12_uc010lnf.1_RNA	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	poly ADP-ribose polymerase 12	301	WWE 1.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)	3	Melanoma(164;0.0142)					AAGAATTGCCATCGATACGGC	0.403													G	139746769	A	G	139746769	3	3	98	1	0	0	0	0	1	0	0	0	11457	217	8	3	1236	3	PARP12	7	139746769	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1145126	139746769	19391894	659	64989											
DENND2A	27147	broad.mit.edu	37	chr7	140267037	140267037	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtaccgaggcgcctgcttcAgccgggacttcacgttgacc	13	14	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:140267037A>G	uc010lnj.2	-	7	1773	c.1628T>C	c.(1627-1629)CTG>CCG	p.L543P	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.L543P|DENND2A_uc003vvw.2_Missense_Mutation_p.L543P|DENND2A_uc003vvx.2_Missense_Mutation_p.L543P	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	543										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					CGCCTGCTTCAGCCGGGACTT	0.413													G	140267037	A	G	140267037	3	3	98	1	0	0	0	0	1	0	0	0	4429	188	7	3	1449	3	DENND2A	7	140267037	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	520268	140267037	18871626	660	64990											
BRAF	673	broad.mit.edu	37	chr7	140434475	140434475	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagcatatagactaaaatcCtctgtttggaaaccagcccg	7	11	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:140434475C>A	uc003vwc.3	-	18	2284	c.2223G>T	c.(2221-2223)GAG>GAT	p.E741D		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	741					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	GACTAAAATCCTCTGTTTGGA	0.483		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				A	140434475	C	A	140434475	3	1	98	1	0	0	0	0	1	0	0	0	1496	680	24	5	81	5	BRAF	7	140434475	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	167438	140434475	18704188	661	64991											
MGAM	8972	broad.mit.edu	37	chr7	141708379	141708379	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcctggaacaactggtacCacacatgctaggacaacggg	11	11	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:141708379C>T	uc003vwy.2	+	3	255	c.201C>T	c.(199-201)ACC>ACT	p.T67T		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	67	Ser/Thr-rich.|Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAACTGGTACCACACATGCTA	0.483													T	141708379	C	T	141708379	2	4	98	1	0	0	0	0	0	0	0	1	9541	581	21	4		4	MGAM	7	141708379	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1273904	141708379	17430284	662	64992											
EPHB6	2051	broad.mit.edu	37	chr7	142561448	142561448	+	Frame_Shift_Del	DEL	G	G	-													gctggctcacctacccaccaGggggggtgagtgccactcta							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:142561447_142561447AG>A	uc011kst.2	+	5	946	c.159_159AG>A	c.(157-159)ccafs	p.P53fs	EPHB6_uc011ksu.2_Frame_Shift_Del_p.P53fs|EPHB6_uc003wbs.3_Intron|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Intron	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	53						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCTACCCACCAGGGGGGGTGA	0.577													-	142561448	G	-	142561448	7	5	98	1	0	1	0	1	0	0	0	0	5178	1000	35	0	166	0	EPHB6	7	142561448	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	853069	142561448	16577215	663	64993											
EPHB6	2051	broad.mit.edu	37	chr7	142561892	142561892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgactccacttctctgtgCgggcatgctccagcctgggt	11	14	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:142561892C>T	uc011kst.1	+	7	1121	c.334C>T	c.(334-336)CGG>TGG	p.R112W	EPHB6_uc011ksu.1_Missense_Mutation_p.R112W|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	112	Extracellular (Potential).					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					CTTCTCTGTGCGGGCATGCTC	0.657													T	142561892	C	T	142561892	3	4	98	1	0	0	0	0	1	0	0	0	5178	759	27	1	344	1	EPHB6	7	142561892	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	444	142561892	16576771	664	64994											
EPHB6	2051	broad.mit.edu	37	chr7	142562206	142562206	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgtggccttccaggacacGggggcctgcctggccctggt	15	14	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:142562206G>A	uc011kst.1	+	7	1435	c.648G>A	c.(646-648)ACG>ACA	p.T216T	EPHB6_uc011ksu.1_Silent_p.T216T|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_Intron|EPHB6_uc003wbu.2_5'UTR|EPHB6_uc003wbv.2_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	216	Extracellular (Potential).					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					TCCAGGACACGGGGGCCTGCC	0.657													A	142562206	G	A	142562206	2	1	98	1	0	0	0	0	0	0	0	1	5178	1103	39	1		1	EPHB6	7	142562206	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	314	142562206	16576457	665	64995											
GSTK1	373156	broad.mit.edu	37	chr7	142962174	142962174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgggagctgtggatgcgcGtctggtcaagggtgagtgtg	19	8	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:142962174G>A	uc003wci.2	+	4	458	c.373G>A	c.(373-375)GTC>ATC	p.V125I	GSTK1_uc011ksy.1_Missense_Mutation_p.V82I|GSTK1_uc003wcj.2_Missense_Mutation_p.V125I|GSTK1_uc011ksz.1_Missense_Mutation_p.V125I	NM_015917	NP_057001	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1 isoform a	125						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity				0	Melanoma(164;0.059)				Glutathione(DB00143)	GTGGATGCGCGTCTGGTCAAG	0.587													A	142962174	G	A	142962174	3	1	98	1	0	0	0	0	1	0	0	0	6836	1145	40	1	387	1	GSTK1	7	142962174	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	399968	142962174	16176489	666	64996											
TAS2R41	259287	broad.mit.edu	37	chr7	143175662	143175662	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccaggctcacaccagagctCtgaagtccctcatctccttc	6	18	4	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:143175662C>A	uc003wdc.1	+	1	697	c.697C>A	c.(697-699)CTG>ATG	p.L233M	uc003wda.2_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	233	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			pancreas(1)|skin(1)	2	Melanoma(164;0.15)					CACCAGAGCTCTGAAGTCCCT	0.478													A	143175662	C	A	143175662	3	1	98	1	0	0	0	0	1	0	0	0	15576	912	32	5	699	5	TAS2R41	7	143175662	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	213488	143175662	15963001	667	64997											
CNTNAP2	26047	broad.mit.edu	37	chr7	147092722	147092722	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgaaccagatgaataActcaagtcactctgtccttc	5	11	4	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:147092722A>T	uc003weu.1	+	10	2036	c.1520A>T	c.(1519-1521)AAC>ATC	p.N507I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	507	Extracellular (Potential).|Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGATGAATAACTCAAGTCAC	0.398										HNSCC(39;0.1)			T	147092722	A	T	147092722	3	4	98	1	0	0	0	0	1	0	0	0	3647	43	2	5	1558	5	CNTNAP2	7	147092722	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	3917060	147092722	12045941	668	64998											
SLC4A2	6522	broad.mit.edu	37	chr7	150765012	150765012	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acaaaaaccaggagccccagTggcgggagacagctcgctgg	14	12	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:150765012T>A	uc003wit.3	+	8	1274	c.1018T>A	c.(1018-1020)TGG>AGG	p.W340R	SLC4A2_uc011kve.1_Missense_Mutation_p.W331R|SLC4A2_uc003wiu.3_Missense_Mutation_p.W326R	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	340	Cytoplasmic (Potential).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAGCCCCAGTGGCGGGAGAC	0.592													A	150765012	T	A	150765012	3	1	98	1	0	0	0	0	1	0	0	0	14654	1696	59	5	1044	5	SLC4A2	7	150765012	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	3672290	150765012	8373651	669	64999											
WDR86	349136	broad.mit.edu	37	chr7	151093229	151093229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgtccacactccagaccCgagctgtccggtcataggag	10	15	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:151093229C>T	uc003wkb.2	-	3	808	c.359G>A	c.(358-360)CGG>CAG	p.R120Q	WDR86_uc003wka.2_Missense_Mutation_p.R78Q|WDR86_uc011kvk.1_Missense_Mutation_p.R120Q|WDR86_uc003wkc.2_5'UTR	NM_198285	NP_938026	Q86TI4	WDR86_HUMAN	WD repeat domain 86	120	WD 3.										0			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACTCCAGACCCGAGCTGTCCG	0.642													T	151093229	C	T	151093229	3	4	98	1	0	0	0	0	1	0	0	0	17331	652	23	1	787	1	WDR86	7	151093229	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	328217	151093229	8045434	670	65000											
GALNT11	63917	broad.mit.edu	37	chr7	151805283	151805283	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcgtcccctgtcgtccgCggagggttcaactggggact	14	13	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:151805283C>T	uc010lqg.1	+	6	1103	c.873C>T	c.(871-873)CGC>CGT	p.R291R	GALNT11_uc011kvm.1_Silent_p.R210R|GALNT11_uc003wku.2_Silent_p.R291R|GALNT11_uc011kvn.1_RNA|GALNT11_uc003wkw.1_Silent_p.R39R	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	291	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CTGTCGTCCGCGGAGGGTTCA	0.602													T	151805283	C	T	151805283	2	4	98	1	0	0	0	0	0	0	0	1	6209	755	27	1		1	GALNT11	7	151805283	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	712054	151805283	7333380	671	65001											
MLL3	58508	broad.mit.edu	37	chr7	151836879	151836879	+	Splice_Site	DEL	A	A	-													agcatacaggcccagcccctAaaaaaaagtgtgtacatact							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:151836878_151836878TA>T	uc003wla.3	-	56	14563	c.14344_splice	c.e56-1	p.G4782_splice	MLL3_uc003wkz.3_Splice_Site_p.G3896_splice|MLL3_uc003wkx.3_Splice_Site_p.G940_splice|MLL3_uc003wky.3_Splice_Site_p.G2342_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4782	SET.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCCCAGCCCCTAAAAAAAAGT	0.413			N		medulloblastoma								-	151836879	A	-	151836879	8	5	98	1	0	1	0	1	0	0	1	0	9622	377	13	0		0	MLL3	7	151836879	Splice_Site	DEL	A	TCGA-BR-8591-01A-11D-2394-08	31596	151836879	7301784	672	65002											
MLL3	58508	broad.mit.edu	37	chr7	151842328	151842329	+	Frame_Shift_Ins	INS	-	-	GGATTTC													aagaggaagttccatgagagINSgatttcggccgtatcggaag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:151842327_151842328A>AGGATTTC	uc003wla.3	-	53	14303_14304	c.14084_14085T>GAAATCCT	c.(14083-14085)cctfs	p.P4695fs	MLL3_uc003wkz.3_Frame_Shift_Ins_p.P3813fs|MLL3_uc003wkx.3_Frame_Shift_Ins_p.P853fs|MLL3_uc003wky.3_Frame_Shift_Ins_p.P2259fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4695					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTTCCATGAGAGGATTTCGGCC	0.46			N		medulloblastoma								GGATTTC	151842329	-	GGATTTC	151842328	7	5	98	1	0	1	1	0	0	0	0	0	9622	1000	35	0	675	0	MLL3	7	151842328	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	5449	151842328	7296335	673	65003											
MNX1	3110	broad.mit.edu	37	chr7	156802962	156802962	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagcgacgtgaccaaggccAgcggcgcgctctgcgcagag	16	14	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:156802962A>G	uc003wnd.1	-	1	386	c.83T>C	c.(82-84)CTG>CCG	p.L28P	MNX1_uc003wmz.2_5'Flank|MNX1_uc003wna.2_Missense_Mutation_p.L28P|MNX1_uc010lqq.1_5'Flank|MNX1_uc003wnc.1_5'Flank|MNX1_uc010lqr.1_5'Flank|uc003wne.1_5'Flank	NM_005515	NP_005506	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1 isoform 1	28				DALLAVDPPRAASAQSAPLALVTSLAAA -> EPCWRWTPH EPPLAERALAKVTSPPVP (in Ref. 1; AAB60647).	humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACCAAGGCCAGCGGCGCGCT	0.567									Currarino_syndrome				G	156802962	A	G	156802962	3	3	98	1	0	0	0	0	1	0	0	0	9679	188	7	3	1193	3	MNX1	7	156802962	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	4960634	156802962	2335701	674	65004											
ERICH1	157697	broad.mit.edu	37	chr8	623572	623572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaacgtcttcctccccggcCggtgtcggatcttcctcact	8	16	3	0	rs115887455	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:623572C>T	uc003wph.2	-	4	845	c.780G>A	c.(778-780)CCG>CCA	p.P260P	ERICH1_uc011kwh.1_Silent_p.P260P|ERICH1_uc003wpe.1_Silent_p.P166P|ERICH1_uc003wpi.2_Silent_p.P72P	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	260	Glu-rich.									large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CCTCCCCGGCCGGTGTCGGAT	0.617													T	623572	C	T	623572	2	4	98	1	0	0	0	0	0	0	0	1	5230	639	23	1		1	ERICH1	8	623572	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08		623572	145740450	675	65005											
CLN8	2055	broad.mit.edu	37	chr8	1719304	1719304	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggatccgctccacgctgatGgtcgctggctttgtcttcta	12	12	2	1	rs148763945		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:1719304G>T	uc003wpo.3	+	2	389	c.84G>T	c.(82-84)ATG>ATT	p.M28I		NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8	28	Helical; (Potential).				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane		p.M28I(2)		ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		CCACGCTGATGGTCGCTGGCT	0.542													T	1719304	G	T	1719304	3	4	98	1	0	0	0	0	1	0	0	0	3546	1348	47	5	86	5	CLN8	8	1719304	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1095732	1719304	144644718	676	65006											
MYOM2	9172	broad.mit.edu	37	chr8	2046748	2046748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgccgtcaacctggccgGcatcggggagccctcagatc	13	17	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:2046748G>A	uc003wpx.3	+	19	2513	c.2375G>A	c.(2374-2376)GGC>GAC	p.G792D	MYOM2_uc011kwi.1_Missense_Mutation_p.G217D	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	792	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AACCTGGCCGGCATCGGGGAG	0.567													A	2046748	G	A	2046748	3	1	98	1	0	0	0	0	1	0	0	0	10092	1203	42	2	2445	2	MYOM2	8	2046748	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	327444	2046748	144317274	677	65007											
CSMD1	64478	broad.mit.edu	37	chr8	2886956	2886956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcaatacttgagcaccGtactcattcaaggatcctga	7	12	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:2886956G>A	uc011kwk.1	-	51	8133	c.7743C>T	c.(7741-7743)TAC>TAT	p.Y2581Y	CSMD1_uc011kwj.1_Silent_p.Y1910Y|CSMD1_uc010lrg.2_Silent_p.Y649Y	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2581	Extracellular (Potential).|Sushi 16.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTGAGCACCGTACTCATTCA	0.532													A	2886956	G	A	2886956	2	1	98	1	0	0	0	0	0	0	0	1	3944	1140	40	1		1	CSMD1	8	2886956	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	840208	2886956	143477066	678	65008											
MCPH1	79648	broad.mit.edu	37	chr8	6479067	6479068	+	Frame_Shift_Ins	INS	-	-	C													ttgtctcgcctgccagcagcINScccccagtggccaagctctg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:6479066_6479067G>GC	uc003wqi.3	+	12	2382_2383	c.2306_2307G>GC	c.(2305-2307)agcfs	p.S769fs		NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	769	BRCT 3.					microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CCTGCCAGCAGCCCCCCAGTGG	0.663													C	6479068	-	C	6479067	7	5	98	1	0	1	1	0	0	0	0	0	9398	738	26	0	2365	0	MCPH1	8	6479067	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	3592111	6479067	139884955	679	65009											
SGK223	157285	broad.mit.edu	37	chr8	8176630	8176630	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcgggtgatgaccaccacGcagtcctgctcctgggcagg	13	14	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:8176630G>A	uc003wsh.3	-	5	3255	c.3255C>T	c.(3253-3255)TGC>TGT	p.C1085C		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	1085	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity				0						TGACCACCACGCAGTCCTGCT	0.716													A	8176630	G	A	8176630	2	1	98	1	0	0	0	0	0	0	0	1	14210	1079	38	1		1	SGK223	8	8176630	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1697563	8176630	138187392	680	65010											
PPP1R3B	79660	broad.mit.edu	37	chr8	8998651	8998651	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaggaaagtctgtgtagcTcttccaggtgtcgaacgtca	11	9	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:8998651T>G	uc003wsn.3	-	2	676	c.511A>C	c.(511-513)AGC>CGC	p.S171R	PPP1R3B_uc003wso.3_Missense_Mutation_p.S170R	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	171	CBM21.				glycogen metabolic process					ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		TCTGTGTAGCTCTTCCAGGTG	0.502													G	8998651	T	G	8998651	3	3	98	1	0	0	0	0	1	0	0	0	12372	1551	54	5	350	5	PPP1R3B	8	8998651	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	822021	8998651	137365371	681	65011											
TNKS	8658	broad.mit.edu	37	chr8	9622250	9622250	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtactattcgagaacacAgagatggtggtaatgctggc	12	6	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:9622250A>G	uc003wss.2	+	23	3402	c.3397A>G	c.(3397-3399)AGA>GGA	p.R1133G	TNKS_uc011kww.1_Missense_Mutation_p.R896G	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	1133	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		TCGAGAACACAGAGATGGTGG	0.353													G	9622250	A	G	9622250	3	3	98	1	0	0	0	0	1	0	0	0	16316	180	7	3	3487	3	TNKS	8	9622250	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	623599	9622250	136741772	682	65012											
BLK	640	broad.mit.edu	37	chr8	11420558	11420558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcaccatcaaagcagaCgtgtggtcgtttggagtcct	11	10	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:11420558C>T	uc003wty.2	+	12	1832	c.1251C>T	c.(1249-1251)GAC>GAT	p.D417D	BLK_uc003wtz.2_Silent_p.D346D|BLK_uc003wua.2_Silent_p.D253D	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	417	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|stomach(1)|ovary(1)	3			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TCAAAGCAGACGTGTGGTCGT	0.592													T	11420558	C	T	11420558	2	4	98	1	0	0	0	0	0	0	0	1	1444	535	19	1		1	BLK	8	11420558	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1798308	11420558	134943464	683	65013											
USP17L2	377630	broad.mit.edu	37	chr8	11995172	11995172	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtaaaagaggacataggcCtgttgactcaggacagaagt	12	6	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:11995172C>A	uc003wvc.1	-	1	1098	c.1098G>T	c.(1096-1098)CAG>CAT	p.Q366H	FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	deubiquitinating enzyme 3	366					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)	3						GGACATAGGCCTGTTGACTCA	0.483													A	11995172	C	A	11995172	3	1	98	1	0	0	0	0	1	0	0	0	17045	680	24	5	498	5	USP17L2	8	11995172	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	574614	11995172	134368850	684	65014											
DLC1	10395	broad.mit.edu	37	chr8	12943849	12943849	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggattttcctggcccacaGggttcaatcaaatacctgga	9	10	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:12943849G>T	uc003wwm.2	-	17	4860	c.4416C>A	c.(4414-4416)CCC>CCA	p.P1472P	DLC1_uc003wwk.1_Silent_p.P1035P|DLC1_uc003wwl.1_Silent_p.P1069P|DLC1_uc011kxx.1_Silent_p.P961P	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1472	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						CTGGCCCACAGGGTTCAATCA	0.453													T	12943849	G	T	12943849	2	4	98	1	0	0	0	0	0	0	0	1	4550	987	35	5		5	DLC1	8	12943849	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	948677	12943849	133420173	685	65015											
DLC1	10395	broad.mit.edu	37	chr8	12957883	12957883	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttggcagttttttcgtggcCtttcatgctgaagctgaagc	11	9	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:12957883C>A	uc003wwm.2	-	9	2407	c.1963G>T	c.(1963-1965)GGC>TGC	p.G655C	DLC1_uc003wwk.1_Missense_Mutation_p.G218C|DLC1_uc003wwl.1_Missense_Mutation_p.G252C|DLC1_uc011kxx.1_Missense_Mutation_p.G144C	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	655					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TTTTCGTGGCCTTTCATGCTG	0.557													A	12957883	C	A	12957883	3	1	98	1	0	0	0	0	1	0	0	0	4550	681	24	5	2663	5	DLC1	8	12957883	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	14034	12957883	133406139	686	65016											
MSR1	4481	broad.mit.edu	37	chr8	16012628	16012629	+	Frame_Shift_Ins	INS	-	-	T													cagtgggacctcgatctcctINSttttcacccgggggtccagg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:16012627_16012628C>CT	uc010lsu.3	-	5	961_962	c.897_898G>AG	c.(895-900)aaaggafs	p.K299fs	MSR1_uc003wwz.3_Frame_Shift_Ins_p.K281fs|MSR1_uc003wxa.3_Frame_Shift_Ins_p.K281fs|MSR1_uc003wxb.3_Frame_Shift_Ins_p.K281fs|MSR1_uc011kxz.2_Frame_Shift_Ins_p.K55fs	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	281	Collagen-like.				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	p.G300C(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCTCGATCTCCTTTTTCACCCG	0.401													T	16012629	-	T	16012628	7	5	98	1	0	1	1	0	0	0	0	0	9886	1606	56	0	580	0	MSR1	8	16012628	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	3054745	16012628	130351394	687	65017											
EFHA2	286097	broad.mit.edu	37	chr8	16971623	16971623	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcacatttgatgaattcAggtcatttttccagttttta	6	7	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:16971623A>G	uc003wxd.2	+	12	1321	c.1279A>G	c.(1279-1281)AGG>GGG	p.R427G		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	427	EF-hand 2.					integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		TGATGAATTCAGGTCATTTTT	0.318													G	16971623	A	G	16971623	3	3	98	1	0	0	0	0	1	0	0	0	4944	179	7	3	1325	3	EFHA2	8	16971623	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	958995	16971623	129392399	688	65018											
SLC7A2	6542	broad.mit.edu	37	chr8	17406330	17406331	+	Frame_Shift_Ins	INS	-	-	A													gattagtgaagagtttctcaINSaaaatatatcagcaagtgcc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:17406329_17406330C>CA	uc011kye.2	+	3	843_844	c.795_796C>CA	c.(793-798)ctcaaafs	p.L265fs	SLC7A2_uc011kyc.2_Frame_Shift_Ins_p.L225fs|SLC7A2_uc011kyd.2_Frame_Shift_Ins_p.L265fs	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	225					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	AAGAGTTTCTCAAAAATATATC	0.332													A	17406331	-	A	17406330	7	5	98	1	0	1	1	0	0	0	0	0	14697	131	5	0	810	0	SLC7A2	8	17406330	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	434707	17406330	128957692	689	65019											
PSD3	23362	broad.mit.edu	37	chr8	18432748	18432748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtggtgcacactcacagcGtttttcaagtcctcttcaga	9	12	4	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:18432748G>A	uc003wza.2	-	13	2632	c.2529C>T	c.(2527-2529)AAC>AAT	p.N843N	PSD3_uc003wyx.3_Silent_p.N172N|PSD3_uc003wyy.2_Silent_p.N309N|PSD3_uc003wyz.2_Silent_p.N144N	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	844	PH.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CACTCACAGCGTTTTTCAAGT	0.428													A	18432748	G	A	18432748	2	1	98	1	0	0	0	0	0	0	0	1	12648	1136	40	1		1	PSD3	8	18432748	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1026418	18432748	127931274	690	65020											
PSD3	23362	broad.mit.edu	37	chr8	18725322	18725322	+	Frame_Shift_Del	DEL	C	C	-													tcaggatatcctgatgtcctCcccctgatgtcctctccaag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:18725321_18725321TC>T	uc003wza.3	-	3	1600	c.1497_1497GA>A	c.(1495-1497)ggafs	p.G499fs		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	499					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.R498M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CCTGATGTCCTCCCCCTGATG	0.498													-	18725322	C	-	18725322	7	5	98	1	0	1	0	1	0	0	0	0	12648	855	30	0	1735	0	PSD3	8	18725322	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	292574	18725322	127638700	691	65021											
XPO7	23039	broad.mit.edu	37	chr8	21840178	21840178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttgctccaaatagtgtgCactatcttctgagcctgtgg	9	9	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:21840178C>T	uc003xaa.3	+	11	1234	c.1132C>T	c.(1132-1134)CAC>TAC	p.H378Y	XPO7_uc010lti.2_Missense_Mutation_p.H387Y|XPO7_uc010ltk.2_Missense_Mutation_p.H379Y	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	378				Missing (in Ref. 3; BAA34465).	mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AAATAGTGTGCACTATCTTCT	0.483													T	21840178	C	T	21840178	3	4	98	1	0	0	0	0	1	0	0	0	17446	710	25	2	1226	2	XPO7	8	21840178	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3114856	21840178	124523844	692	65022											
FGF17	8822	broad.mit.edu	37	chr8	21903771	21903771	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caggtcaccgggcgtcgcatCtccgccaccgccgaggacgg	14	17	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:21903771C>A	uc003xag.2	+	3	231	c.219C>A	c.(217-219)ATC>ATA	p.I73I	FGF17_uc003xah.2_Silent_p.I62I|FGF17_uc003xai.2_Silent_p.I96I	NM_003867	NP_003858	O60258	FGF17_HUMAN	fibroblast growth factor 17 precursor	73					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		GGCGTCGCATCTCCGCCACCG	0.657													A	21903771	C	A	21903771	2	1	98	1	0	0	0	0	0	0	0	1	5845	903	32	5		5	FGF17	8	21903771	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	63593	21903771	124460251	693	65023											
FGF17	8822	broad.mit.edu	37	chr8	21905606	21905606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccaggcttcccgcagccGccagaaccagcgcgaggccc	12	20	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:21905606G>A	uc003xag.2	+	5	509	c.497G>A	c.(496-498)CGC>CAC	p.R166H	FGF17_uc003xah.2_Missense_Mutation_p.R155H|FGF17_uc003xai.2_Missense_Mutation_p.R189H	NM_003867	NP_003858	O60258	FGF17_HUMAN	fibroblast growth factor 17 precursor	166					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		TCCCGCAGCCGCCAGAACCAG	0.657													A	21905606	G	A	21905606	3	1	98	1	0	0	0	0	1	0	0	0	5845	1087	38	1	515	1	FGF17	8	21905606	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1835	21905606	124458416	694	65024											
SLC39A14	23516	broad.mit.edu	37	chr8	22265945	22265945	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggattcccgggcctgcacCtcggagaaccaggaaaacga	12	13	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:22265945C>A	uc003xbq.3	+	3	568	c.393C>A	c.(391-393)ACC>ACA	p.T131T	SLC39A14_uc011kzg.1_Silent_p.T131T|SLC39A14_uc003xbp.3_Silent_p.T131T|SLC39A14_uc011kzh.1_Silent_p.T131T	NM_001128431	NP_001121903	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter),	131	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity				0				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GGGCCTGCACCTCGGAGAACC	0.627													A	22265945	C	A	22265945	2	1	98	1	0	0	0	0	0	0	0	1	14617	668	24	5		5	SLC39A14	8	22265945	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	360339	22265945	124098077	695	65025											
EGR3	1960	broad.mit.edu	37	chr8	22548215	22548215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgctgcggctgaagctcCgcatgcagatccggcactgg	15	13	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:22548215C>T	uc003xcm.1	-	2	1293	c.935G>A	c.(934-936)CGG>CAG	p.R312Q	EGR3_uc011kzn.1_Missense_Mutation_p.R274Q|EGR3_uc011kzo.1_Missense_Mutation_p.R258Q	NM_004430	NP_004421	Q06889	EGR3_HUMAN	early growth response 3	312	C2H2-type 2.				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GCTGAAGCTCCGCATGCAGAT	0.667													T	22548215	C	T	22548215	3	4	98	1	0	0	0	0	1	0	0	0	4973	652	23	1	232	1	EGR3	8	22548215	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	282270	22548215	123815807	696	65026											
RHOBTB2	23221	broad.mit.edu	37	chr8	22864426	22864426	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagtcccacctccgcaAtgtgcagcggcctctgctgc	11	16	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:22864426A>G	uc003xcq.2	+	5	1205	c.668A>G	c.(667-669)AAT>AGT	p.N223S	RHOBTB2_uc003xcp.2_Missense_Mutation_p.N245S|RHOBTB2_uc011kzp.1_Missense_Mutation_p.N230S|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	223					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CACCTCCGCAATGTGCAGCGG	0.662													G	22864426	A	G	22864426	3	3	98	1	0	0	0	0	1	0	0	0	13334	101	4	3	767	3	RHOBTB2	8	22864426	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	316211	22864426	123499596	697	65027											
LOXL2	4017	broad.mit.edu	37	chr8	23155605	23155605	+	Frame_Shift_Del	DEL	T	T	-													gcccgctgaagtgctcaaacTttttttccgtctcttcgctg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:23155604_23155604CT>C	uc003xdh.1	-	13	2616	c.2277_2277AG>G	c.(2275-2277)aagfs	p.K759fs	LOXL2_uc010lty.1_Frame_Shift_Del_p.S261fs	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	759					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AGTGCTCAAACTTTTTTTCCG	0.537													-	23155605	T	-	23155605	7	5	98	1	0	1	0	1	0	0	0	0	8900	1609	56	0	52	0	LOXL2	8	23155605	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	291179	23155605	123208417	698	65028											
NKX3-1	4824	broad.mit.edu	37	chr8	23539062	23539062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagaaggcagctcgggagCgcttctgcggctgcttaggg	19	9	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:23539062C>T	uc011kzx.1	-	2	425	c.377G>A	c.(376-378)CGC>CAC	p.R126H	NKX3-1_uc003xdv.1_Intron	NM_006167	NP_006158	Q99801	NKX31_HUMAN	NK3 homeobox 1	126	Homeobox.				negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding				0		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		AGCTCGGGAGCGCTTCTGCGG	0.577													T	23539062	C	T	23539062	3	4	98	1	0	0	0	0	1	0	0	0	10455	768	27	1	331	1	NKX3-1	8	23539062	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	383457	23539062	122824960	699	65029											
NEFL	4747	broad.mit.edu	37	chr8	24811209	24811209	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggtctgtaaaccgccgtAggcagatcggccaaagacct	12	12	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:24811209A>G	uc003xee.2	-	3	1372	c.1270T>C	c.(1270-1272)TAC>CAC	p.Y424H		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	424	Tail.|Tail, subdomain A.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AAACCGCCGTAGGCAGATCGG	0.567													G	24811209	A	G	24811209	3	3	98	1	0	0	0	0	1	0	0	0	10315	420	15	3	370	3	NEFL	8	24811209	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1272147	24811209	121552813	700	65030											
NEFL	4747	broad.mit.edu	37	chr8	24813312	24813312	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccacggagatctgcgcgtActggatctgcgcctgcagtt	12	13	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:24813312A>G	uc003xee.2	-	1	820	c.718T>C	c.(718-720)TAC>CAC	p.Y240H		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	240	Rod.|Linker 12.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATCTGCGCGTACTGGATCTGC	0.587													G	24813312	A	G	24813312	3	3	98	1	0	0	0	0	1	0	0	0	10315	391	14	3	930	3	NEFL	8	24813312	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	2103	24813312	121550710	701	65031											
DOCK5	80005	broad.mit.edu	37	chr8	25240190	25240190	+	Frame_Shift_Del	DEL	A	A	-													tgtcttgttttgttttccagAaaaaaagggcctcattttat							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:25240190delA	uc003xeg.2	+	40	4164	c.4027delA	c.(4027-4029)AAAfs	p.K1343fs	PPP2R2A_uc003xek.2_Frame_Shift_Del_p.K132fs|DOCK5_uc003xei.2_Frame_Shift_Del_p.K913fs|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1343	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGTTTTCCAGAAAAAAAGGGC	0.408													-	25240190	A	-	25240190	7	5	98	1	0	1	0	1	0	0	0	0	4690	260	9	0	4185	0	DOCK5	8	25240190	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	426878	25240190	121123832	702	65032											
CDCA2	157313	broad.mit.edu	37	chr8	25323706	25323706	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagggcagccctgcactgTatcgaaatgttaacacttta	8	11	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:25323706T>C	uc003xep.1	+	5	882	c.403T>C	c.(403-405)TAT>CAT	p.Y135H	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.Y135H|CDCA2_uc003xeq.1_Missense_Mutation_p.Y120H|CDCA2_uc003xer.1_5'Flank	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	135					cell division|mitosis	cytoplasm|nucleus					0		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CCCTGCACTGTATCGAAATGT	0.378													C	25323706	T	C	25323706	3	2	98	1	0	0	0	0	1	0	0	0	3086	1638	57	3	417	3	CDCA2	8	25323706	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	83516	25323706	121040316	703	65033											
PPP2R2A	5520	broad.mit.edu	37	chr8	26227792	26227792	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtctgtgcaagtggcaagCgaaagaaagatgaaataagt	12	4	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:26227792C>T	uc003xeu.2	+	10	1509	c.1207C>T	c.(1207-1209)CGA>TGA	p.R403*	PPP2R2A_uc003xek.2_Nonsense_Mutation_p.R404*|PPP2R2A_uc011laf.1_Nonsense_Mutation_p.R413*	NM_002717	NP_002708	P63151	2ABA_HUMAN	alpha isoform of regulatory subunit B55, protein	403					protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			ovary(1)|kidney(1)	2		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		AAGTGGCAAGCGAAAGAAAGA	0.453													T	26227792	C	T	26227792	4	4	98	1	0	0	0	0	0	1	0	0	12384	760	27	1	1286	1	PPP2R2A	8	26227792	Nonsense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	904086	26227792	120136230	704	65034											
EXTL3	2137	broad.mit.edu	37	chr8	28575242	28575242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcagctgagatcccccacCgttcaggcaaggcggctgga	14	14	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:28575242C>T	uc003xgz.1	+	3	2259	c.1666C>T	c.(1666-1668)CGT>TGT	p.R556C		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	556	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GATCCCCCACCGTTCAGGCAA	0.607													T	28575242	C	T	28575242	3	4	98	1	0	0	0	0	1	0	0	0	5327	652	23	1	1668	1	EXTL3	8	28575242	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2347450	28575242	117788780	705	65035											
FUT10	84750	broad.mit.edu	37	chr8	33247281	33247281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagtcatgatgggctttccGaggcagaggtaagctatcta	12	9	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:33247281G>A	uc003xje.2	-	4	768	c.412C>T	c.(412-414)CGG>TGG	p.R138W	FUT10_uc003xjc.2_Missense_Mutation_p.R145W|FUT10_uc003xjd.2_Missense_Mutation_p.R110W|FUT10_uc011lbi.1_Missense_Mutation_p.R188W|FUT10_uc003xjf.2_Missense_Mutation_p.R76W|FUT10_uc003xjg.2_Missense_Mutation_p.R110W|FUT10_uc003xjh.2_Missense_Mutation_p.R138W	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10	138	Lumenal (Potential).				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			ovary(1)|pancreas(1)	2				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TGGGCTTTCCGAGGCAGAGGT	0.388													A	33247281	G	A	33247281	3	1	98	1	0	0	0	0	1	0	0	0	6102	1057	37	1	1035	1	FUT10	8	33247281	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	4672039	33247281	113116741	706	65036											
KCNU1	157855	broad.mit.edu	37	chr8	36768518	36768519	+	Frame_Shift_Ins	INS	-	-	C													tccatgtgtgctgtcttgtcINSccccccaccccagccatcaa							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:36768517_36768518T>TC	uc010lvw.3	+	21	2488_2489	c.2401_2402T>TC	c.(2401-2403)tccfs	p.S801fs	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	801						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGCTGTCTTGTCCCCCCCACCC	0.525													C	36768519	-	C	36768518	7	5	98	1	0	1	1	0	0	0	0	0	8093	855	30	0	2488	0	KCNU1	8	36768518	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	3521237	36768518	109595504	707	65037											
KCNU1	157855	broad.mit.edu	37	chr8	36780117	36780117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacgggcactgttttttcCggcagcttcttggattctct	9	11	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:36780117C>T	uc010lvw.2	+	24	2793	c.2706C>T	c.(2704-2706)TCC>TCT	p.S902S	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	902	Segment S10.|Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTGTTTTTTCCGGCAGCTTCT	0.493													T	36780117	C	T	36780117	2	4	98	1	0	0	0	0	0	0	0	1	8093	639	23	1		1	KCNU1	8	36780117	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	11599	36780117	109583905	708	65038											
ASH2L	9070	broad.mit.edu	37	chr8	37974227	37974227	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagcagtgctgtgtctacTagtgggaatttaaatggtaa	12	5	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:37974227T>C	uc003xkt.3	+	8	895	c.837T>C	c.(835-837)ACT>ACC	p.T279T	ASH2L_uc011lbk.1_Silent_p.T140T|ASH2L_uc003xku.3_Silent_p.T185T|ASH2L_uc010lwa.2_Silent_p.T185T	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	ash2-like isoform a	279					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CTGTGTCTACTAGTGGGAATT	0.378													C	37974227	T	C	37974227	2	2	98	1	0	0	0	0	0	0	0	1	1042	1509	53	3		3	ASH2L	8	37974227	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1194110	37974227	108389795	709	65039											
PLEKHA2	59339	broad.mit.edu	37	chr8	38809830	38809830	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtgaagcaagggaatgtGgtgagtgtcagcacaggggc	18	6	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:38809830G>T	uc003xmi.3	+	7	867	c.633G>T	c.(631-633)GTG>GTT	p.V211V	PLEKHA2_uc011lce.1_Silent_p.V161V	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A	211	PH 2.				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding				0		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			AAGGGAATGTGGTGAGTGTCA	0.562													T	38809830	G	T	38809830	2	4	98	1	0	0	0	0	0	0	0	1	12056	1362	47	5		5	PLEKHA2	8	38809830	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	835603	38809830	107554192	710	65040											
ADAM2	2515	broad.mit.edu	37	chr8	39644523	39644523	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgcatagtttgcatcAcacatcttcccttgaaaggt	6	13	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:39644523A>G	uc003xnj.2	-	10	936	c.861T>C	c.(859-861)TGT>TGC	p.C287C	ADAM2_uc003xnk.2_Silent_p.C268C|ADAM2_uc011lck.1_Silent_p.C287C|ADAM2_uc003xnl.2_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	287	Extracellular (Potential).|Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AGTTTGCATCACACATCTTCC	0.284													G	39644523	A	G	39644523	2	3	98	1	0	0	0	0	0	0	0	1	241	157	6	3		3	ADAM2	8	39644523	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	834693	39644523	106719499	711	65041											
SFRP1	6422	broad.mit.edu	37	chr8	41166419	41166419	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgcttcacctccgccAtggtctcgtgctccagcagg	10	17	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:41166419A>G	uc003xnt.2	-	1	562	c.260T>C	c.(259-261)ATG>ACG	p.M87T		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1 precursor	87	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACCTCCGCCATGGTCTCGTG	0.652													G	41166419	A	G	41166419	3	3	98	1	0	0	0	0	1	0	0	0	14161	217	8	3	696	3	SFRP1	8	41166419	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1521896	41166419	105197603	712	65042											
GINS4	84296	broad.mit.edu	37	chr8	41397247	41397247	+	Frame_Shift_Del	DEL	G	G	-													aaggaaaaaacacgtcctgaGggggagccttccagcctctc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:41397246_41397246AG>A	uc003xnx.3	+	4	557	c.347_347AG>A	c.(346-348)gagfs	p.E116fs	GINS4_uc022aug.1_Intron	NM_032336	NP_115712	Q9BRT9	SLD5_HUMAN	Homo sapiens GINS complex subunit 4 (Sld5 homolog) (GINS4), mRNA.	116					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			ACACGTCCTGAGGGGGAGCCT	0.512													-	41397247	G	-	41397247	7	5	98	1	0	1	0	1	0	0	0	0	6390	991	35	0	362	0	GINS4	8	41397247	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	230828	41397247	104966775	713	65043											
ANK1	286	broad.mit.edu	37	chr8	41551449	41551449	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcaggcgcaggctggtggTgtctccctccccgctgtccc	13	16	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:41551449T>C	uc003xok.2	-	29	3583	c.3499A>G	c.(3499-3501)ACC>GCC	p.T1167A	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.T483A|ANK1_uc003xoi.2_Missense_Mutation_p.T1167A|ANK1_uc003xoj.2_Missense_Mutation_p.T1167A|ANK1_uc003xol.2_Missense_Mutation_p.T1167A|ANK1_uc003xom.2_Missense_Mutation_p.T1208A	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1167					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGGCTGGTGGTGTCTCCCTCC	0.667													C	41551449	T	C	41551449	3	2	98	1	0	0	0	0	1	0	0	0	620	1696	59	3	2528	3	ANK1	8	41551449	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	154202	41551449	104812573	714	65044											
IKBKB	3551	broad.mit.edu	37	chr8	42151029	42151029	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccttgctgagtgacatTggtaaatcccagtcccggaa	9	12	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:42151029T>C	uc003xow.1	+	5	564	c.387T>C	c.(385-387)ATT>ATC	p.I129I	IKBKB_uc003xov.2_Silent_p.I129I|IKBKB_uc010lxh.1_Intron|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Intron|IKBKB_uc003xox.1_5'UTR|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Silent_p.I127I|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Silent_p.I70I	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	129	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	TGAGTGACATTGGTAAATCCC	0.542													C	42151029	T	C	42151029	2	2	98	1	0	0	0	0	0	0	0	1	7611	1826	63	3		3	IKBKB	8	42151029	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	599580	42151029	104212993	715	65045											
HOOK3	84376	broad.mit.edu	37	chr8	42819545	42819545	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctgattctatagaagaccCtaacagtccagcaggaagaa	8	9	2	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:42819545C>A	uc003xpr.2	+	9	949	c.707C>A	c.(706-708)CCT>CAT	p.P236H	HOOK3_uc010lxq.1_Missense_Mutation_p.P236H	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	236	Potential.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			ATAGAAGACCCTAACAGTCCA	0.393			T	RET	papillary thyroid								A	42819545	C	A	42819545	3	1	98	1	0	0	0	0	1	0	0	0	7284	681	24	5	741	5	HOOK3	8	42819545	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	668516	42819545	103544477	716	65046											
SNAI2	6591	broad.mit.edu	37	chr8	49832848	49832848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaaagatgaggagtatcCggaaagaggagagaggccat	14	8	0	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:49832848C>T	uc003xqp.2	-	2	396	c.232G>A	c.(232-234)GGA>AGA	p.G78R		NM_003068	NP_003059	O43623	SNAI2_HUMAN	snail 2	78					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GAGGAGTATCCGGAAAGAGGA	0.567													T	49832848	C	T	49832848	3	4	98	1	0	0	0	0	1	0	0	0	14827	661	23	1	582	1	SNAI2	8	49832848	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	7013303	49832848	96531174	717	65047											
RB1CC1	9821	broad.mit.edu	37	chr8	53569839	53569839	+	Frame_Shift_Del	DEL	T	T	-													atttccagagaacattttacTttttcaataatgtttcttat							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:53569838_53569838CT>C	uc003xre.4	-	14	3109	c.2551_2551AG>G	c.(2551-2553)gtafs	p.V851fs	RB1CC1_uc003xrf.4_Frame_Shift_Del_p.V851fs	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	851					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GAACATTTTACTTTTTCAATA	0.284													-	53569839	T	-	53569839	7	5	98	1	0	1	0	1	0	0	0	0	13099	1606	56	0	2274	0	RB1CC1	8	53569839	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	3736991	53569839	92794183	718	65048											
TCEA1	6917	broad.mit.edu	37	chr8	54900776	54900776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaacataagtatctcgagCatttgtctcatcctttctgt	6	9	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:54900776C>T	uc003xru.2	-	5	687	c.364G>A	c.(364-366)GCT>ACT	p.A122T	TCEA1_uc003xrv.2_Missense_Mutation_p.A101T|TCEA1_uc011ldw.1_Intron|TCEA1_uc003xrw.1_RNA	NM_006756	NP_006747	P23193	TCEA1_HUMAN	transcription elongation factor A 1 isoform 1	122					positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding				0		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			GTATCTCGAGCATTTGTCTCA	0.443			T	PLAG1	salivary adenoma								T	54900776	C	T	54900776	3	4	98	1	0	0	0	0	1	0	0	0	15664	710	25	2	565	2	TCEA1	8	54900776	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1330937	54900776	91463246	719	65049											
RP1	6101	broad.mit.edu	37	chr8	55533979	55533979	+	Frame_Shift_Del	DEL	C	C	-													gctgctcccggcatgccccgCcccccacggagcctagtggt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:55533978_55533978GC>G	uc003xsd.1	+	1	600	c.452_452GC>G	c.(451-453)cgcfs	p.R151fs	RP1_uc011ldy.1_Frame_Shift_Del_p.R151fs	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	151					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGCATGCCCCGCCCCCCACGG	0.687													-	55533979	C	-	55533979	7	5	98	1	0	1	0	1	0	0	0	0	13532	726	26	0	455	0	RP1	8	55533979	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	633203	55533979	90830043	720	65050											
XKR4	114786	broad.mit.edu	37	chr8	56436612	56436612	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacggattgaagaatcAgtcattaaaattgacttgtt	7	8	2	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:56436612A>G	uc003xsf.2	+	3	1811	c.1779A>G	c.(1777-1779)TCA>TCG	p.S593S		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	593						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			TTGAAGAATCAGTCATTAAAA	0.488													G	56436612	A	G	56436612	2	3	98	1	0	0	0	0	0	0	0	1	17430	175	7	3		3	XKR4	8	56436612	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	902633	56436612	89927410	721	65051											
CHD7	55636	broad.mit.edu	37	chr8	61757811	61757811	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatgatggtgattctaggtTtgtcagctcctgtgccaagg	12	7	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:61757811T>C	uc003xue.2	+	23	5530	c.5053T>C	c.(5053-5055)TTG>CTG	p.L1685L		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1685					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GATTCTAGGTTTGTCAGCTCC	0.498													C	61757811	T	C	61757811	2	2	98	1	0	0	0	0	0	0	0	1	3330	1838	64	3		3	CHD7	8	61757811	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	5321199	61757811	84606211	722	65052											
CYP7B1	9420	broad.mit.edu	37	chr8	65509466	65509466	+	Frame_Shift_Del	DEL	A	A	-													ttcttcttaccatcttctatAaaacgatcatatctaaactc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:65509465_65509465TA>T	uc003xvj.2	-	5	1459	c.1255_1255TA>A	c.(1255-1257)atafs	p.I419fs		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	419					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				CCATCTTCTATAAAACGATCA	0.363													-	65509466	A	-	65509466	7	5	98	1	0	1	0	1	0	0	0	0	4197	359	13	0	270	0	CYP7B1	8	65509466	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	3751655	65509466	80854556	723	65053											
LRRC67	286187	broad.mit.edu	37	chr8	67900734	67900734	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacagcttcatcaacttgtTcagtaaaaactccaaatcct	3	13	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:67900734T>G	uc003xxc.2	-	6	716	c.571A>C	c.(571-573)AAC>CAC	p.N191H		NM_001013626	NP_001013648	Q7Z4L9	LRC67_HUMAN	leucine rich repeat containing 67	191											0						ATCAACTTGTTCAGTAAAAAC	0.343													G	67900734	T	G	67900734	3	3	98	1	0	0	0	0	1	0	0	0	9019	1783	62	5	119	5	LRRC67	8	67900734	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	2391268	67900734	78463288	724	65054											
CSPP1	79848	broad.mit.edu	37	chr8	68007920	68007920	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggatgagaggtttagataTgaaagtgattttgatagaag	13	0	0	6			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:68007920T>C	uc003xxi.2	+	8	1039	c.1008T>C	c.(1006-1008)TAT>TAC	p.Y336Y	CSPP1_uc003xxg.1_Silent_p.Y328Y|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Silent_p.Y301Y|CSPP1_uc003xxk.2_Silent_p.Y7Y	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	336						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GGTTTAGATATGAAAGTGATT	0.308													C	68007920	T	C	68007920	2	2	98	1	0	0	0	0	0	0	0	1	3962	1471	51	3		3	CSPP1	8	68007920	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	107186	68007920	78356102	725	65055											
C8orf34	116328	broad.mit.edu	37	chr8	69358682	69358682	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatttctccaccatcaccGgactccaaatcatgtaagga	5	12	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:69358682G>A	uc010lyz.2	+	3	385	c.336G>A	c.(334-336)CCG>CCA	p.P112P	C8orf34_uc010lyx.1_Silent_p.P112P|C8orf34_uc010lyy.1_Silent_p.P112P|C8orf34_uc003xyb.2_Silent_p.P87P	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	112					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CACCATCACCGGACTCCAAAT	0.343													A	69358682	G	A	69358682	2	1	98	1	0	0	0	0	0	0	0	1	2422	1103	39	1		1	C8orf34	8	69358682	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1350762	69358682	77005340	726	65056											
SULF1	23213	broad.mit.edu	37	chr8	70515459	70515459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttctcaacattgacttggCccccacgatcctggatattg	8	13	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:70515459C>T	uc010lza.1	+	11	1811	c.1094C>T	c.(1093-1095)GCC>GTC	p.A365V	SULF1_uc003xyd.2_Missense_Mutation_p.A365V|SULF1_uc003xye.2_Missense_Mutation_p.A365V|SULF1_uc003xyf.2_Missense_Mutation_p.A365V|SULF1_uc003xyg.2_Missense_Mutation_p.A365V|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	365					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATTGACTTGGCCCCCACGATC	0.542													T	70515459	C	T	70515459	3	4	98	1	0	0	0	0	1	0	0	0	15369	739	26	2	1120	2	SULF1	8	70515459	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1156777	70515459	75848563	727	65057											
EYA1	2138	broad.mit.edu	37	chr8	72127929	72127929	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaatttcggccctcaactgCagccaggcttccctcttagc	7	16	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:72127929C>A	uc003xys.3	-	14	1682	c.1395G>T	c.(1393-1395)CTG>CTT	p.L465L	EYA1_uc003xyr.3_Silent_p.L430L|EYA1_uc003xyt.3_Silent_p.L432L|EYA1_uc010lzf.2_Silent_p.L392L|EYA1_uc003xyu.2_Silent_p.L465L|EYA1_uc011lfe.1_Silent_p.L459L|EYA1_uc003xyv.2_Silent_p.L343L	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	465					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CCCTCAACTGCAGCCAGGCTT	0.527													A	72127929	C	A	72127929	2	1	98	1	0	0	0	0	0	0	0	1	5328	697	25	5		5	EYA1	8	72127929	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1612470	72127929	74236093	728	65058											
JPH1	56704	broad.mit.edu	37	chr8	75233296	75233296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtacatccacttgcccttcGtctccacccccagcccgtgc	7	20	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:75233296G>A	uc003yae.2	-	1	267	c.227C>T	c.(226-228)ACG>ATG	p.T76M	JPH1_uc003yaf.2_Missense_Mutation_p.T76M|JPH1_uc003yag.1_Intron	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	76	Gly-rich.|MORN 3.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CTTGCCCTTCGTCTCCACCCC	0.682													A	75233296	G	A	75233296	3	1	98	1	0	0	0	0	1	0	0	0	7960	1145	40	1	1778	1	JPH1	8	75233296	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3105367	75233296	71130726	729	65059											
ZFHX4	79776	broad.mit.edu	37	chr8	77765070	77765070	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caagaacatgtacatgggcaAttttttccatatgcagcgct	8	9	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:77765070A>T	uc003yav.2	+	10	6165	c.5778A>T	c.(5776-5778)CAA>CAT	p.Q1926H	ZFHX4_uc003yau.1_Missense_Mutation_p.Q1971H|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q1926H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1926						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TACATGGGCAATTTTTTCCAT	0.373										HNSCC(33;0.089)			T	77765070	A	T	77765070	3	4	98	1	0	0	0	0	1	0	0	0	17632	98	4	5	5947	5	ZFHX4	8	77765070	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	2531774	77765070	68598952	730	65060											
ZFHX4	79776	broad.mit.edu	37	chr8	77767659	77767659	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagttccggagatgtgaaAccggctttgtctcccaaaga	12	9	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:77767659A>G	uc003yav.2	+	10	8754	c.8367A>G	c.(8365-8367)AAA>AAG	p.K2789K	ZFHX4_uc003yau.1_Silent_p.K2834K|ZFHX4_uc003yaw.1_Silent_p.K2789K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2789						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAGATGTGAAACCGGCTTTGT	0.488										HNSCC(33;0.089)			G	77767659	A	G	77767659	2	3	98	1	0	0	0	0	0	0	0	1	17632	40	2	3		3	ZFHX4	8	77767659	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	2589	77767659	68596363	731	65061											
LRRCC1	85444	broad.mit.edu	37	chr8	86049698	86049698	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgatttttgtttcttaGgatcttctctagcccaaaat	6	7	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:86049698G>T	uc003ycw.2	+	15	2484	c.2330_splice	c.e15-1	p.G777_splice	LRRCC1_uc010maa.1_Splice_Site_p.G478_splice|LRRCC1_uc003ycx.2_Splice_Site_p.G684_splice|LRRCC1_uc003ycy.2_Splice_Site_p.G757_splice	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a						cell division|mitosis	centriole|nucleus					0						TTGTTTCTTAGGATCTTCTCT	0.303													T	86049698	G	T	86049698	5	4	98	1	0	0	0	0	0	0	1	0	9026	1014	35	5	2387	5	LRRCC1	8	86049698	Splice_Site	SNP	G	TCGA-BR-8591-01A-11D-2394-08	8282039	86049698	60314324	732	65062											
FAM82B	51115	broad.mit.edu	37	chr8	87487047	87487047	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactttatgggagatgttttAcctgtttatcctcctctgtg	8	8	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:87487047A>G	uc003ydu.2	-	9	1054	c.894_splice	c.e9+1	p.Q298_splice	FAM82B_uc011lfz.1_Splice_Site_p.Q255_splice|FAM82B_uc011lga.1_Splice_Site_p.Q268_splice	NM_016033	NP_057117	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1							microtubule|spindle pole	binding			ovary(1)	1						GAGATGTTTTACCTGTTTATC	0.348													G	87487047	A	G	87487047	5	3	98	1	0	0	0	0	0	0	1	0	5632	405	14	3	56	3	FAM82B	8	87487047	Splice_Site	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1437349	87487047	58876975	733	65063											
RIPK2	8767	broad.mit.edu	37	chr8	90770378	90770378	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagccgcggcgcctctggCactgtgtcgtccgcccgcca	13	18	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:90770378C>T	uc003yee.2	+	1	404	c.90C>T	c.(88-90)GGC>GGT	p.G30G	uc003yed.2_5'Flank|RIPK2_uc003yef.2_5'UTR	NM_003821	NP_003812	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	30	ATP (By similarity).|Protein kinase.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.0474)			GCGCCTCTGGCACTGTGTCGT	0.687													T	90770378	C	T	90770378	2	4	98	1	0	0	0	0	0	0	0	1	13381	697	25	2		2	RIPK2	8	90770378	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3283331	90770378	55593644	734	65064											
SLC26A7	115111	broad.mit.edu	37	chr8	92365208	92365208	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaaaaaaatattggaatgTggataaaatcgattgggtaa	9	1	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:92365208T>C	uc003yex.2	+	12	1576	c.1298T>C	c.(1297-1299)GTG>GCG	p.V433A	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.V433A|SLC26A7_uc003yfa.2_Missense_Mutation_p.V433A	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	433	Extracellular (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TATTGGAATGTGGATAAAATC	0.323													C	92365208	T	C	92365208	3	2	98	1	0	0	0	0	1	0	0	0	14522	1696	59	3	1336	3	SLC26A7	8	92365208	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1594830	92365208	53998814	735	65065											
RUNX1T1	862	broad.mit.edu	37	chr8	92983012	92983012	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcgtgggctttccgctcCgcctcagacacggccttctg	11	15	2	1	rs142225049	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	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	0.617													T	92983012	C	T	92983012	2	4	98	1	0	0	0	0	0	0	0	1	13747	639	23	1		1	RUNX1T1	8	92983012	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	617804	92983012	53381010	736	65066											
RBM12B	389677	broad.mit.edu	37	chr8	94746566	94746566	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatcctcgggtggtcgcctCcattctccctgaagaggccg	11	15	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:94746566C>T	uc003yfz.2	-	3	2266	c.2073G>A	c.(2071-2073)TGG>TGA	p.W691*		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	691							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GTGGTCGCCTCCATTCTCCCT	0.612													T	94746566	C	T	94746566	4	4	98	1	0	0	0	0	0	1	0	0	13114	856	30	4	936	4	RBM12B	8	94746566	Nonsense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1763554	94746566	51617456	737	65067											
TSPYL5	85453	broad.mit.edu	37	chr8	98290066	98290066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcgaccccgacttcggcCgctcatggtggcggcggagg	15	14	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:98290066C>T	uc003yhy.2	-	1	111	c.7G>A	c.(7-9)GGC>AGC	p.G3S		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	3					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)					CGACTTCGGCCGCTCATGGTG	0.706													T	98290066	C	T	98290066	3	4	98	1	0	0	0	0	1	0	0	0	16659	652	23	1	1250	1	TSPYL5	8	98290066	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3543500	98290066	48073956	738	65068											
POP1	10940	broad.mit.edu	37	chr8	99170031	99170031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcagcaagggcagcccCgagcctcacaccatgatctg	10	16	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:99170031C>T	uc003yij.3	+	16	2707	c.2607C>T	c.(2605-2607)CCC>CCT	p.P869P	POP1_uc011lgv.1_Silent_p.P869P|POP1_uc003yik.2_Silent_p.P869P	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	869					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AGGGCAGCCCCGAGCCTCACA	0.607													T	99170031	C	T	99170031	2	4	98	1	0	0	0	0	0	0	0	1	12251	639	23	1		1	POP1	8	99170031	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	879965	99170031	47193991	739	65069											
VPS13B	157680	broad.mit.edu	37	chr8	100654346	100654346	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acaagaacagaagaataatgAaaaaacagacaagagttcat	7	5	1	6	rs141211386	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:100654346A>T	uc003yiv.2	+	34	5714	c.5603A>T	c.(5602-5604)GAA>GTA	p.E1868V	VPS13B_uc003yiw.2_Missense_Mutation_p.E1843V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1868					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAGAATAATGAAAAAACAGAC	0.373													T	100654346	A	T	100654346	3	4	98	1	0	0	0	0	1	0	0	0	17187	246	9	5	5927	5	VPS13B	8	100654346	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1484315	100654346	45709676	740	65070											
UBR5	51366	broad.mit.edu	37	chr8	103340002	103340002	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgttttccagctgagcgcaGgtgtaaagggcacagcaatg	13	9	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:103340002G>T	uc003ykr.1	-	12	1482	c.1449C>A	c.(1447-1449)ACC>ACA	p.T483T	UBR5_uc003yks.1_Silent_p.T483T	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	483					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCTGAGCGCAGGTGTAAAGGG	0.418													T	103340002	G	T	103340002	2	4	98	1	0	0	0	0	0	0	0	1	16902	987	35	5		5	UBR5	8	103340002	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2685656	103340002	43024020	741	65071											
RIMS2	9699	broad.mit.edu	37	chr8	104933921	104933922	+	Frame_Shift_Ins	INS	-	-	A													tctagctcctttgaatctcaINSaaaaatggatcgtccttcta							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:104933920_104933921C>CA	uc003yls.3	+	7	1679_1680	c.1438_1439C>CA	c.(1438-1440)caafs	p.Q480fs	RIMS2_uc003ylp.3_Frame_Shift_Ins_p.Q702fs|RIMS2_uc003ylw.2_Frame_Shift_Ins_p.Q510fs|RIMS2_uc003ylq.3_Frame_Shift_Ins_p.Q510fs|RIMS2_uc003ylr.3_Frame_Shift_Ins_p.Q557fs|RIMS2_uc003ylt.3_Frame_Shift_Ins_p.Q103fs|RIMS2_uc003ylv.1_Frame_Shift_Ins_p.Q93fs	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	780					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTTTGAATCTCAAAAAATGGAT	0.361										HNSCC(12;0.0054)			A	104933922	-	A	104933921	7	5	98	1	0	1	1	0	0	0	0	0	13368	130	5	0	2269	0	RIMS2	8	104933921	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	1593919	104933921	41430101	742	65072											
ABRA	137735	broad.mit.edu	37	chr8	107782296	107782296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcctgggcctgcctgatGctgttctcattcgcccactg	11	15	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:107782296G>A	uc003ymm.3	-	1	177	c.123C>T	c.(121-123)AGC>AGT	p.S41S		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	41					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CCTGCCTGATGCTGTTCTCAT	0.632													A	107782296	G	A	107782296	2	1	98	1	0	0	0	0	0	0	0	1	100	1310	46	2		2	ABRA	8	107782296	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2848375	107782296	38581726	743	65073											
EBAG9	9166	broad.mit.edu	37	chr8	110563098	110563098	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaaattttgtacctgcctAgcaacagtattctcattcct	4	10	1	0	rs149468671		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:110563098A>G	uc003ynf.2	+	2	280	c.45A>G	c.(43-45)CTA>CTG	p.L15L	EBAG9_uc010mcn.1_RNA|EBAG9_uc003yng.2_Silent_p.L15L	NM_198120	NP_936056	O00559	RCAS1_HUMAN	estrogen receptor binding site associated	15	Helical; Signal-anchor for type III membrane protein; (Potential).				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity				0			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			GTACCTGCCTAGCAACAGTAT	0.358													G	110563098	A	G	110563098	2	3	98	1	0	0	0	0	0	0	0	1	4879	407	15	3		3	EBAG9	8	110563098	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	2780802	110563098	35800924	744	65074											
EBAG9	9166	broad.mit.edu	37	chr8	110576774	110576774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaacaaaacaaaattggtGtgaaactttcataacacatg	7	6	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:110576774G>A	uc003ynf.2	+	7	863	c.628G>A	c.(628-630)GTG>ATG	p.V210M	EBAG9_uc003yng.2_Missense_Mutation_p.V210M	NM_198120	NP_936056	O00559	RCAS1_HUMAN	estrogen receptor binding site associated	210	Cytoplasmic (Potential).|Potential.				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity				0			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			CAAAATTGGTGTGAAACTTTC	0.368													A	110576774	G	A	110576774	3	1	98	1	0	0	0	0	1	0	0	0	4879	1377	48	4	650	4	EBAG9	8	110576774	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	13676	110576774	35787248	745	65075											
CSMD3	114788	broad.mit.edu	37	chr8	113267603	113267603	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgactggtatataaagcTtttgccttctctttttcctt	5	10	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:113267603T>C	uc003ynu.2	-	62	10075	c.9916A>G	c.(9916-9918)AGC>GGC	p.S3306G	CSMD3_uc003yns.2_Missense_Mutation_p.S2508G|CSMD3_uc003ynt.2_Missense_Mutation_p.S3266G|CSMD3_uc011lhx.1_Missense_Mutation_p.S3137G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3306	Extracellular (Potential).|Sushi 26.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TATATAAAGCTTTTGCCTTCT	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113267603	T	C	113267603	3	2	98	1	0	0	0	0	1	0	0	0	3946	1609	56	3	1247	3	CSMD3	8	113267603	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	2690829	113267603	33096419	746	65076											
CSMD3	114788	broad.mit.edu	37	chr8	113988083	113988083	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacctctatgagtaacaactGcaagctctttagttctttct	5	10	4	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:113988083G>T	uc003ynu.2	-	7	1484	c.1325C>A	c.(1324-1326)GCA>GAA	p.A442E	CSMD3_uc003ynt.2_Missense_Mutation_p.A402E|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	442	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AGTAACAACTGCAAGCTCTTT	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113988083	G	T	113988083	3	4	98	1	0	0	0	0	1	0	0	0	3946	1319	46	5	10058	5	CSMD3	8	113988083	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	720480	113988083	32375939	747	65077											
TRPS1	7227	broad.mit.edu	37	chr8	116426634	116426634	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcattgtctgatccaacagCtgaaaaatgaggaggcagat	11	7	2	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:116426634C>A	uc003ynz.2	-	6	3922	c.3463G>T	c.(3463-3465)GCT>TCT	p.A1155S	TRPS1_uc011lhy.1_Missense_Mutation_p.A1159S|TRPS1_uc003yny.2_Missense_Mutation_p.A1168S|TRPS1_uc010mcy.2_Missense_Mutation_p.A1155S	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1155	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GATCCAACAGCTGAAAAATGA	0.502									Langer-Giedion_syndrome				A	116426634	C	A	116426634	3	1	98	1	0	0	0	0	1	0	0	0	16590	797	28	5	386	5	TRPS1	8	116426634	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2438551	116426634	29937388	748	65078											
TAF2	6873	broad.mit.edu	37	chr8	120844797	120844797	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcgggctctacaccagtcAgcggcatgaagcggtcccgc	14	14	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:120844797A>G	uc003you.2	-	1	278	c.8T>C	c.(7-9)CTG>CCG	p.L3P		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	3					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TACACCAGTCAGCGGCATGAA	0.532													G	120844797	A	G	120844797	3	3	98	1	0	0	0	0	1	0	0	0	15521	188	7	3	3695	3	TAF2	8	120844797	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	4418163	120844797	25519225	749	65079											
ATAD2	29028	broad.mit.edu	37	chr8	124413003	124413003	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaagatcacgctgaagaCgccgctgatctcctcctcca	9	15	2	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:124413003C>T	uc003yqi.3	-	2		c.516G>A			uc003yqk.2_5'Flank			Q6PL18	ATAD2_HUMAN	Homo sapiens PRO2000 mRNA, complete cds.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ACGCTGAAGACGCCGCTGATC	0.537													T	124413003	C	T	124413003	1	4	98	0	1	0	0	0	0	0	0	0	1071	551	19	1		1	ATAD2	8	124413003	RNA	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3568206	124413003	21951019	750	65080											
TATDN1	83940	broad.mit.edu	37	chr8	125506109	125506109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatttctgtcttttaagcaGtgcccactttcccacttctt	4	13	4	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:125506109G>A	uc003yrd.2	-	11	798	c.756C>T	c.(754-756)CAC>CAT	p.H252H	TATDN1_uc003yre.2_RNA|TATDN1_uc010mdm.2_Silent_p.H205H|TATDN1_uc003yrf.2_Silent_p.H288H	NM_032026	NP_114415	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1 isoform a	252						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding				0	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTTTAAGCAGTGCCCACTTT	0.368													A	125506109	G	A	125506109	2	1	98	1	0	0	0	0	0	0	0	1	15588	1020	36	4		4	TATDN1	8	125506109	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1093106	125506109	20857913	751	65081											
KIAA0196	9897	broad.mit.edu	37	chr8	126091168	126091168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatcagcagaagatcgagCagcactgagtcatattcaca	9	9	3	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:126091168C>T	uc003yrt.2	-	6	852	c.523G>A	c.(523-525)GCT>ACT	p.A175T	KIAA0196_uc011lir.1_Missense_Mutation_p.A27T	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	175					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GAAGATCGAGCAGCACTGAGT	0.388													T	126091168	C	T	126091168	3	4	98	1	0	0	0	0	1	0	0	0	8161	710	25	2	3052	2	KIAA0196	8	126091168	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	585059	126091168	20272854	752	65082											
ADCY8	114	broad.mit.edu	37	chr8	132051792	132051792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcgcccaggagcccgtagCcgaggcctgctgccaggatc	14	16	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:132051792C>T	uc003ytd.3	-	1	1044	c.788G>A	c.(787-789)GGC>GAC	p.G263D	ADCY8_uc010mds.2_Missense_Mutation_p.G263D	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	263	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GAGCCCGTAGCCGAGGCCTGC	0.662										HNSCC(32;0.087)			T	132051792	C	T	132051792	3	4	98	1	0	0	0	0	1	0	0	0	300	739	26	2	3039	2	ADCY8	8	132051792	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	5960624	132051792	14312230	753	65083											
WISP1	8840	broad.mit.edu	37	chr8	134225301	134225301	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttggggacaactgcacGgaggctgccatctgtgaccc	13	13	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:134225301G>A	uc003yub.2	+	2	340	c.264G>A	c.(262-264)ACG>ACA	p.T88T	WISP1_uc003yuc.2_Silent_p.T88T|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Silent_p.T88T|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_RNA	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	88	IGFBP N-terminal.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ACAACTGCACGGAGGCTGCCA	0.642													A	134225301	G	A	134225301	2	1	98	1	0	0	0	0	0	0	0	1	17369	1103	39	1		1	WISP1	8	134225301	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2173509	134225301	12138721	754	65084											
TRAPPC9	83696	broad.mit.edu	37	chr8	141461251	141461251	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggcccacgactttgcgGtgggtctggaagtcacccca	13	12	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:141461251G>A	uc003yvj.2	-	2	356	c.222C>T	c.(220-222)CAC>CAT	p.H74H	TRAPPC9_uc003yvh.2_Silent_p.H172H|TRAPPC9_uc003yvi.1_Silent_p.H74H	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	74					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						CGACTTTGCGGTGGGTCTGGA	0.582													A	141461251	G	A	141461251	2	1	98	1	0	0	0	0	0	0	0	1	16462	1252	44	4		4	TRAPPC9	8	141461251	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	7235950	141461251	4902771	755	65085											
EIF2C2	27161	broad.mit.edu	37	chr8	141561443	141561443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgctggggggcgaagcaCgcaatggcccacaccttgat	15	12	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:141561443C>T	uc003yvn.2	-	11	1402	c.1362G>A	c.(1360-1362)GCG>GCA	p.A454A	EIF2C2_uc010men.2_Silent_p.A377A|EIF2C2_uc010meo.2_Silent_p.A454A	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	454					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			GGGCGAAGCACGCAATGGCCC	0.617													T	141561443	C	T	141561443	2	4	98	1	0	0	0	0	0	0	0	1	5006	523	19	1		1	EIF2C2	8	141561443	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	100192	141561443	4802579	756	65086											
BAI1	575	broad.mit.edu	37	chr8	143603466	143603466	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccgcaagcgcttcctctgCctgggctggggtgagccgcg	15	14	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:143603466C>T	uc003ywm.2	+	20	3348	c.3165C>T	c.(3163-3165)TGC>TGT	p.C1055C		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1055	Helical; Name=4; (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCTTCCTCTGCCTGGGCTGGG	0.672													T	143603466	C	T	143603466	2	4	98	1	0	0	0	0	0	0	0	1	1298	747	26	2		2	BAI1	8	143603466	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2042023	143603466	2760556	757	65087											
C8orf31	286122	broad.mit.edu	37	chr8	144126111	144126111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggactcactgccaaagacGctcactttctgggagacaca	10	12	3	2	rs137944456		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:144126111G>A	uc003yxp.1	+	4	584	c.232G>A	c.(232-234)GCT>ACT	p.A78T	C8orf31_uc003yxq.1_RNA|C8orf31_uc003yxr.1_RNA	NM_173687	NP_775958	Q8N9H6	CH031_HUMAN	hypothetical protein LOC286122	78										ovary(1)	1	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGCCAAAGACGCTCACTTTCT	0.617													A	144126111	G	A	144126111	3	1	98	1	0	0	0	0	1	0	0	0	2420	1087	38	1	242	1	C8orf31	8	144126111	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	522645	144126111	2237911	758	65088											
ZC3H3	23144	broad.mit.edu	37	chr8	144620415	144620415	+	Frame_Shift_Del	DEL	G	G	-													gccttccacttgtacttgctGggggcagaccctggcttgga							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:144620414_144620414TG>T	uc003yyd.2	-	1	1152	c.1123_1123CA>A	c.(1123-1125)agcfs	p.S375fs		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	375					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TTGTACTTGCTGGGGGCAGAC	0.632													-	144620415	G	-	144620415	7	5	98	1	0	1	0	1	0	0	0	0	17566	1335	47	0	1768	0	ZC3H3	8	144620415	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	494304	144620415	1743607	759	65089											
FAM83H	286077	broad.mit.edu	37	chr8	144811445	144811445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccgcggcctccagcacttCgctgagcaggtccacatcag	12	16	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:144811445C>T	uc003yzk.2	-	3	565	c.496G>A	c.(496-498)GAA>AAA	p.E166K	FAM83H_uc010mfk.1_5'Flank	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	166					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCAGCACTTCGCTGAGCAGG	0.637													T	144811445	C	T	144811445	3	4	98	1	0	0	0	0	1	0	0	0	5640	893	31	1	3055	1	FAM83H	8	144811445	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	191030	144811445	1552577	760	65090											
SCRIB	23513	broad.mit.edu	37	chr8	144892734	144892734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatgctcctcttcatcaccTtgagctcgctggggtgaggt	12	12	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:144892734T>C	uc003yzp.1	-	13	1452	c.1445A>G	c.(1444-1446)AAG>AGG	p.K482R	SCRIB_uc003yzo.1_Missense_Mutation_p.K482R	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	482	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTTCATCACCTTGAGCTCGCT	0.672													C	144892734	T	C	144892734	3	2	98	1	0	0	0	0	1	0	0	0	13937	1609	56	3	3622	3	SCRIB	8	144892734	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	81289	144892734	1471288	761	65091											
EPPK1	83481	broad.mit.edu	37	chr8	144944631	144944631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccgcacaccgcccacagCtcccaggccgcacaggtacc	9	21	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:144944631C>T	uc003zaa.1	-	1	2804	c.2791G>A	c.(2791-2793)GCT>ACT	p.A931T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	931	Plectin 17.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGCCCACAGCTCCCAGGCCG	0.687													T	144944631	C	T	144944631	3	4	98	1	0	0	0	0	1	0	0	0	5190	797	28	2	4475	2	EPPK1	8	144944631	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	51897	144944631	1419391	762	65092											
PLEC	5339	broad.mit.edu	37	chr8	144992277	144992277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcagcgccgtggcctcGtccatgacctgcgagcgcac	13	16	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:144992277G>A	uc003zaf.1	-	32	12293	c.12123C>T	c.(12121-12123)GAC>GAT	p.D4041D	PLEC_uc003zab.1_Silent_p.D3904D|PLEC_uc003zac.1_Silent_p.D3908D|PLEC_uc003zad.2_Silent_p.D3904D|PLEC_uc003zae.1_Silent_p.D3872D|PLEC_uc003zag.1_Silent_p.D3882D|PLEC_uc003zah.2_Silent_p.D3890D|PLEC_uc003zaj.2_Silent_p.D3931D	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4041	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCGTGGCCTCGTCCATGACCT	0.652													A	144992277	G	A	144992277	2	1	98	1	0	0	0	0	0	0	0	1	12052	1136	40	1		1	PLEC	8	144992277	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	47646	144992277	1371745	763	65093											
GRINA	2907	broad.mit.edu	37	chr8	145065718	145065718	+	Frame_Shift_Del	DEL	C	C	-													ccatatccccagagccccttCccccccaacccctatggaca							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:145065717_145065717TC>T	uc003zan.1	+	1	492	c.326_326TC>T	c.(325-327)ttcfs	p.F109fs	GRINA_uc003zao.1_Frame_Shift_Del_p.F109fs|GRINA_uc003zap.1_Frame_Shift_Del_p.F109fs	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA.	109	Pro-rich.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGAGCCCCTTCCCCCCCAAC	0.682													-	145065718	C	-	145065718	7	5	98	1	0	1	0	1	0	0	0	0	6785	854	30	0	329	0	GRINA	8	145065718	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	73441	145065718	1298304	764	65094											
OPLAH	26873	broad.mit.edu	37	chr8	145112396	145112396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatggcctcgttggccacGcgcacgaaccccatggccac	10	18	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:145112396G>A	uc003zar.3	-	10	1459	c.1377C>T	c.(1375-1377)CGC>CGT	p.R459R	OPLAH_uc003zas.1_5'Flank|OPLAH_uc003zat.1_3'UTR	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	459							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CGTTGGCCACGCGCACGAACC	0.706													A	145112396	G	A	145112396	2	1	98	1	0	0	0	0	0	0	0	1	10876	1074	38	1		1	OPLAH	8	145112396	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	46678	145112396	1251626	765	65095											
SCRT1	83482	broad.mit.edu	37	chr8	145556953	145556953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgagataggacttgagcGcgaagctcttcttgcagcgc	13	9	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:145556953G>A	uc003zbw.1	-	2	1053	c.941C>T	c.(940-942)GCG>GTG	p.A314V		NM_031309	NP_112599	Q9BWW7	SCRT1_HUMAN	scratch	314	C2H2-type 5; atypical.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GGACTTGAGCGCGAAGCTCTT	0.657													A	145556953	G	A	145556953	3	1	98	1	0	0	0	0	1	0	0	0	13941	1087	38	1	109	1	SCRT1	8	145556953	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	444557	145556953	807069	766	65096											
SCRT1	83482	broad.mit.edu	37	chr8	145557181	145557181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcgtgagcaggtgcatgGccatggccggcatggacacg	17	11	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:145557181G>A	uc003zbw.1	-	2	825	c.713C>T	c.(712-714)GCC>GTC	p.A238V		NM_031309	NP_112599	Q9BWW7	SCRT1_HUMAN	scratch	238	C2H2-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CAGGTGCATGGCCATGGCCGG	0.697													A	145557181	G	A	145557181	3	1	98	1	0	0	0	0	1	0	0	0	13941	1203	42	2	337	2	SCRT1	8	145557181	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	228	145557181	806841	767	65097											
GPR172A	79581	broad.mit.edu	37	chr8	145583308	145583308	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctcccctcttacgtctcTgtgcttgtggctctggggaa	11	13	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:145583308T>C	uc003zcc.1	+	3	313	c.156T>C	c.(154-156)TCT>TCC	p.S52S	FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Silent_p.S52S|GPR172A_uc003zce.1_Silent_p.S52S|GPR172A_uc010mfy.1_Silent_p.S52S|GPR172A_uc003zcf.1_Silent_p.S52S|GPR172A_uc011llc.1_5'UTR	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A precursor	52	Helical; (Potential).					integral to plasma membrane	receptor activity|riboflavin transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CTTACGTCTCTGTGCTTGTGG	0.637													C	145583308	T	C	145583308	2	2	98	1	0	0	0	0	0	0	0	1	6669	1567	55	3		3	GPR172A	8	145583308	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	26127	145583308	780714	768	65098											
ZNF7	7553	broad.mit.edu	37	chr8	146067086	146067086	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagggatgtcccagagatgCgaggagtgtggcaaaggcat	17	6	0	1	rs146614064		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:146067086C>T	uc003zeg.3	+	5	731	c.594C>T	c.(592-594)TGC>TGT	p.C198C	ZNF7_uc010mge.2_Silent_p.C209C|ZNF7_uc011lln.1_Silent_p.C102C|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Silent_p.C102C|COMMD5_uc003zel.1_RNA	NM_003416	NP_003407	P17097	ZNF7_HUMAN	zinc finger protein 7	198					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		CCCAGAGATGCGAGGAGTGTG	0.502													T	146067086	C	T	146067086	2	4	98	1	0	0	0	0	0	0	0	1	18099	776	27	1		1	ZNF7	8	146067086	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	483778	146067086	296936	769	65099											
ZNF16	7564	broad.mit.edu	37	chr8	146156297	146156297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgcatttgtaggggcgctCgcccgtgtggattatctgat	13	9	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:146156297C>T	uc003zet.2	-	4	2063	c.1876G>A	c.(1876-1878)GAG>AAG	p.E626K	ZNF16_uc003zeu.2_Missense_Mutation_p.E626K	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TAGGGGCGCTCGCCCGTGTGG	0.527													T	146156297	C	T	146156297	3	4	98	1	0	0	0	0	1	0	0	0	17735	893	31	1	176	1	ZNF16	8	146156297	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	89211	146156297	207725	770	65100											
DOCK8	81704	broad.mit.edu	37	chr9	429834	429834	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctttacctcctcatgaggTtcagttttggagccaccagt	8	13	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:429834T>C	uc003zgf.2	+	36	4718	c.4606T>C	c.(4606-4608)TTC>CTC	p.F1536L	DOCK8_uc010mgu.2_Missense_Mutation_p.F838L|DOCK8_uc010mgv.2_Missense_Mutation_p.F1436L|DOCK8_uc003zgk.2_Missense_Mutation_p.F994L	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1536	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCTCATGAGGTTCAGTTTTGG	0.483													C	429834	T	C	429834	3	2	98	1	0	0	0	0	1	0	0	0	4693	1725	60	3	4748	3	DOCK8	9	429834	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08		429834	140783597	771	65101											
GLIS3	169792	broad.mit.edu	37	chr9	4117878	4117878	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accggcccagaagcaagtgaAgtcctcccctttgcgctggt	11	14	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:4117878A>G	uc003zhw.1	-	3	1329	c.1135T>C	c.(1135-1137)TTC>CTC	p.F379L	GLIS3_uc003zhx.1_Missense_Mutation_p.F534L|GLIS3_uc003zic.1_Missense_Mutation_p.F534L|GLIS3_uc003zie.1_Missense_Mutation_p.F534L|GLIS3_uc010mhh.1_Missense_Mutation_p.F409L|GLIS3_uc003zid.1_Missense_Mutation_p.F312L|GLIS3_uc010mhi.1_Missense_Mutation_p.F341L|GLIS3_uc003zif.1_Missense_Mutation_p.F312L|GLIS3_uc003zig.1_Missense_Mutation_p.F378L|GLIS3_uc003zih.1_Missense_Mutation_p.F312L|GLIS3_uc003zhy.1_Missense_Mutation_p.F312L|GLIS3_uc003zhz.1_Missense_Mutation_p.F312L|GLIS3_uc003zib.1_Missense_Mutation_p.F378L|GLIS3_uc010mhg.1_Missense_Mutation_p.F312L	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	379	C2H2-type 2; atypical.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AAGCAAGTGAAGTCCTCCCCT	0.592													G	4117878	A	G	4117878	3	3	98	1	0	0	0	0	1	0	0	0	6447	72	3	3	1224	3	GLIS3	9	4117878	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	3688044	4117878	137095553	772	65102											
PPAPDC2	403313	broad.mit.edu	37	chr9	4663138	4663138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatccagggtcatgctggggCggcacaatgtcaccgacgta	13	11	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:4663138C>T	uc003zin.2	+	1	841	c.763C>T	c.(763-765)CGG>TGG	p.R255W	C9orf68_uc003zik.2_Intron|C9orf68_uc003zil.2_Intron|C9orf68_uc010mhj.2_Intron|C9orf68_uc011lly.1_Intron|C9orf68_uc011llz.1_Intron|C9orf68_uc003zim.2_Intron	NM_203453	NP_982278	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain	255						integral to membrane	hydrolase activity				0	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		CATGCTGGGGCGGCACAATGT	0.567													T	4663138	C	T	4663138	3	4	98	1	0	0	0	0	1	0	0	0	12295	759	27	1	765	1	PPAPDC2	9	4663138	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	545260	4663138	136550293	773	65103											
INSL4	3641	broad.mit.edu	37	chr9	5233697	5233697	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagatggacaagccttaggTacgacatcagaattcattcc	8	9	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:5233697T>C	uc003ziy.2	+	2	345	c.240T>C	c.(238-240)GGT>GGC	p.G80G		NM_002195	NP_002186	Q14641	INSL4_HUMAN	insulin-like 4 precursor	80					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		AAGCCTTAGGTACGACATCAG	0.398													C	5233697	T	C	5233697	2	2	98	1	0	0	0	0	0	0	0	1	7768	1625	57	3		3	INSL4	9	5233697	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	570559	5233697	135979734	774	65104											
PTPRD	5789	broad.mit.edu	37	chr9	8341229	8341229	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attacatggaagattggcacTgataaaccttgaggtgtgag	12	5	0	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:8341229T>C	uc003zkk.2	-	40	5698	c.4987A>G	c.(4987-4989)AGT>GGT	p.S1663G	PTPRD_uc003zkp.2_Missense_Mutation_p.S1257G|PTPRD_uc003zkq.2_Missense_Mutation_p.S1256G|PTPRD_uc003zkr.2_Missense_Mutation_p.S1247G|PTPRD_uc003zks.2_Missense_Mutation_p.S1256G|PTPRD_uc003zkl.2_Missense_Mutation_p.S1654G|PTPRD_uc003zkm.2_Missense_Mutation_p.S1650G|PTPRD_uc003zkn.2_Missense_Mutation_p.S1252G|PTPRD_uc003zko.2_Missense_Mutation_p.S1253G	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1663	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGATTGGCACTGATAAACCTT	0.388										TSP Lung(15;0.13)			C	8341229	T	C	8341229	3	2	98	1	0	0	0	0	1	0	0	0	12799	1580	55	3	775	3	PTPRD	9	8341229	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	3107532	8341229	132872202	775	65105											
BNC2	54796	broad.mit.edu	37	chr9	16435650	16435650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcctgtagtgaagtttcaCactgtaggagcttttgaaac	10	7	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:16435650C>T	uc003zml.2	-	6	2682	c.2542G>A	c.(2542-2544)GTG>ATG	p.V848M	BNC2_uc011lmw.1_Missense_Mutation_p.V753M|BNC2_uc003zmm.2_Missense_Mutation_p.V806M|BNC2_uc003zmq.1_Missense_Mutation_p.V862M|BNC2_uc003zmr.1_Missense_Mutation_p.V885M|BNC2_uc003zmp.1_Missense_Mutation_p.V876M|BNC2_uc010mij.1_Missense_Mutation_p.V770M|BNC2_uc011lmv.1_Missense_Mutation_p.V674M|BNC2_uc003zmo.1_Missense_Mutation_p.V770M|BNC2_uc003zmj.2_Missense_Mutation_p.V613M|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.V613M|BNC2_uc003zmn.1_Missense_Mutation_p.V613M	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	848	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		TGAAGTTTCACACTGTAGGAG	0.502													T	16435650	C	T	16435650	3	4	98	1	0	0	0	0	1	0	0	0	1475	478	17	4	765	4	BNC2	9	16435650	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	8094421	16435650	124777781	776	65106											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18504860	18504860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacgctccgaggaggaccggGacggcctatgggatgcctgg	17	12	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:18504860G>A	uc003zne.3	+	2	224	c.97G>A	c.(97-99)GAC>AAC	p.D33N	ADAMTSL1_uc003znb.2_Missense_Mutation_p.D33N|ADAMTSL1_uc003znc.3_Missense_Mutation_p.D33N	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	33	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		GGAGGACCGGGACGGCCTATG	0.572													A	18504860	G	A	18504860	3	1	98	1	0	0	0	0	1	0	0	0	274	1174	41	4	103	4	ADAMTSL1	9	18504860	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2069210	18504860	122708571	777	65107											
TAF1L	138474	broad.mit.edu	37	chr9	32633025	32633025	+	Frame_Shift_Del	DEL	T	T	-													tctgaatgggaaggaaaggcTttttttatatcttccattcg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:32633024_32633024CT>C	uc003zrg.1	-	0	2644	c.2554_2554AG>G	c.(2554-2556)gccfs	p.A852fs	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	852					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.A852fs*14(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAAGGAAAGGCTTTTTTTATA	0.443													-	32633025	T	-	32633025	7	5	98	1	0	1	0	1	0	0	0	0	15520	1606	56	0	2931	0	TAF1L	9	32633025	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	14128165	32633025	108580406	778	65108											
DNAJA1	3301	broad.mit.edu	37	chr9	33026949	33026949	+	Frame_Shift_Del	DEL	T	T	-													ccatggacatctttgatatgTtttttggaggaggaggaagg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:33026948_33026948GT>G	uc003zsd.1	+	2	453	c.270_270GT>G	c.(268-270)atgfs	p.M90fs	DNAJA1_uc011lnt.1_Intron|DNAJA1_uc003zse.1_Frame_Shift_Del_p.M90fs	NM_001539	NP_001530	P31689	DNJA1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 1 (DNAJA1), mRNA.	90	Gly-rich.				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TCTTTGATATGTTTTTTGGAG	0.443													-	33026949	T	-	33026949	7	5	98	1	0	1	0	1	0	0	0	0	4611	1725	60	0	277	0	DNAJA1	9	33026949	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	393924	33026949	108186482	779	65109											
KIAA1161	57462	broad.mit.edu	37	chr9	34372511	34372511	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacagtctggatgaagaagTgcagcggcagcccgtcggcc	15	12	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:34372511T>C	uc003zue.3	-	3	598	c.431A>G	c.(430-432)CAC>CGC	p.H144R		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	144	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GATGAAGAAGTGCAGCGGCAG	0.711													C	34372511	T	C	34372511	3	2	98	1	0	0	0	0	1	0	0	0	8211	1696	59	3	1717	3	KIAA1161	9	34372511	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1345562	34372511	106840920	780	65110											
DNAJB5	25822	broad.mit.edu	37	chr9	34996554	34996554	+	Frame_Shift_Del	DEL	C	C	-													cctcggcgcaaggtgcaggaCcccccagtggtgcacgagct							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:34996553_34996553AC>A	uc011los.2	+	2	1080	c.719_719AC>A	c.(718-720)gacfs	p.D240fs	DNAJB5_uc003zvs.3_Frame_Shift_Del_p.D202fs|DNAJB5_uc003zvt.3_Frame_Shift_Del_p.D168fs	NM_001135005	NP_036398	O75953	DNJB5_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 5 (DNAJB5), transcript variant 1, mRNA.	168					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			AAGGTGCAGGACCCCCCAGTG	0.622													-	34996554	C	-	34996554	7	5	98	1	0	1	0	1	0	0	0	0	4623	506	18	0	730	0	DNAJB5	9	34996554	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	624043	34996554	106216877	781	65111											
KIAA1539	80256	broad.mit.edu	37	chr9	35108148	35108148	+	Frame_Shift_Del	DEL	C	C	-													gtagaccccgggggatgtcgCcccccctgctgggctgtagc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:35108148delC	uc003zwl.2	-	3	449	c.124delG	c.(124-126)GCGfs	p.A42fs	KIAA1539_uc003zwm.2_Frame_Shift_Del_p.A42fs|KIAA1539_uc003zwn.2_5'UTR|KIAA1539_uc003zwo.2_Frame_Shift_Del_p.A42fs|KIAA1539_uc003zwp.1_Frame_Shift_Del_p.A42fs|KIAA1539_uc010mkk.1_RNA	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	42						nucleus				ovary(2)	2	all_epithelial(49;0.217)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGGGATGTCGCCCCCCCTGCT	0.657													-	35108148	C	-	35108148	7	5	98	1	0	1	0	1	0	0	0	0	8242	739	26	0	1520	0	KIAA1539	9	35108148	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	111594	35108148	106105283	782	65112											
MELK	9833	broad.mit.edu	37	chr9	36657290	36657290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgataaaaattatgtggCgggattaatagactatgatt	10	2	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:36657290C>T	uc003zzn.2	+	13	1244	c.1106C>T	c.(1105-1107)GCG>GTG	p.A369V	MELK_uc011lpm.1_Missense_Mutation_p.A238V|MELK_uc011lpn.1_Intron|MELK_uc011lpo.1_Missense_Mutation_p.A175V|MELK_uc010mll.2_Missense_Mutation_p.A337V|MELK_uc011lpp.1_Missense_Mutation_p.A321V|MELK_uc010mlm.2_Missense_Mutation_p.A298V|MELK_uc011lpq.1_Missense_Mutation_p.A175V|MELK_uc011lpr.1_Missense_Mutation_p.A298V|MELK_uc011lps.1_Missense_Mutation_p.A289V	NM_014791	NP_055606	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	369						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			AATTATGTGGCGGGATTAATA	0.378													T	36657290	C	T	36657290	3	4	98	1	0	0	0	0	1	0	0	0	9470	768	27	1	1152	1	MELK	9	36657290	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1549142	36657290	104556141	783	65113											
FRMPD1	22844	broad.mit.edu	37	chr9	37745147	37745147	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taaataatgtctctcaaggaGacacactagagctccagttg	8	9	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:37745147G>T	uc004aag.1	+	16	3162	c.3118G>T	c.(3118-3120)GAC>TAC	p.D1040Y	FRMPD1_uc004aah.1_Missense_Mutation_p.D1040Y	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1040						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		CTCTCAAGGAGACACACTAGA	0.493													T	37745147	G	T	37745147	3	4	98	1	0	0	0	0	1	0	0	0	6057	942	33	5	3176	5	FRMPD1	9	37745147	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1087857	37745147	103468284	784	65114											
RG9MTD3	158234	broad.mit.edu	37	chr9	37763751	37763751	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccactacatgtcaaagaagGtagaacatccactaagcctg	7	12	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:37763751G>A	uc004aai.2	+	4	497	c.420_splice	c.e4+1	p.K140_splice	RG9MTD3_uc011lqo.1_Splice_Site_p.K140_splice|RG9MTD3_uc011lqp.1_Intron|RG9MTD3_uc011lqq.1_Intron|RG9MTD3_uc004aaj.2_RNA|RG9MTD3_uc004aak.2_Splice_Site_p.K45_splice	NM_144964	NP_659401	Q6PF06	RG9D3_HUMAN	RNA (guanine-9-) methyltransferase domain								methyltransferase activity				0				GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226)		GTCAAAGAAGGTAGAACATCC	0.468													A	37763751	G	A	37763751	5	1	98	1	0	0	0	0	0	0	1	0	13273	1275	44	4	431	4	RG9MTD3	9	37763751	Splice_Site	SNP	G	TCGA-BR-8591-01A-11D-2394-08	18604	37763751	103449680	785	65115											
APBA1	320	broad.mit.edu	37	chr9	72067157	72067157	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggttaatcccattggcccTgaggaattcctggtatgcca	12	10	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:72067157T>C	uc004ahh.2	-	9	2125	c.1849A>G	c.(1849-1851)AGG>GGG	p.R617G		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	617	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						CCATTGGCCCTGAGGAATTCC	0.522													C	72067157	T	C	72067157	3	2	98	1	0	0	0	0	1	0	0	0	756	1579	55	3	684	3	APBA1	9	72067157	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	34303406	72067157	69146274	786	65116											
APBA1	320	broad.mit.edu	37	chr9	72082837	72082837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagccaaggtaattggcggCaaaaatgattccatcgatca	11	8	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:72082837C>T	uc004ahh.2	-	5	1660	c.1384G>A	c.(1384-1386)GCC>ACC	p.A462T		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	462	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						TAATTGGCGGCAAAAATGATT	0.547													T	72082837	C	T	72082837	3	4	98	1	0	0	0	0	1	0	0	0	756	710	25	2	1165	2	APBA1	9	72082837	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	15680	72082837	69130594	787	65117											
SMC5	23137	broad.mit.edu	37	chr9	72901115	72901115	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccccggtttaattttacaGgcaacagatattaaggaggc	9	9	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:72901115G>T	uc004ahr.2	+	8	1099	c.982_splice	c.e8-1	p.A328_splice		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein						DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						TAATTTTACAGGCAACAGATA	0.363													T	72901115	G	T	72901115	5	4	98	1	0	0	0	0	0	0	1	0	14786	1014	35	5	1011	5	SMC5	9	72901115	Splice_Site	SNP	G	TCGA-BR-8591-01A-11D-2394-08	818278	72901115	68312316	788	65118											
GDA	9615	broad.mit.edu	37	chr9	74817603	74817603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaagtacacatttcctgCagaacacagattccagaaca	6	12	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:74817603C>T	uc004aiq.2	+	3	512	c.329C>T	c.(328-330)GCA>GTA	p.A110V	GDA_uc011lse.1_Missense_Mutation_p.A36V|GDA_uc011lsf.1_Missense_Mutation_p.A36V|GDA_uc004air.2_Missense_Mutation_p.A110V|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.A68V|GDA_uc004ait.1_Missense_Mutation_p.A36V	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN	guanine deaminase	110					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		ACATTTCCTGCAGAACACAGA	0.448													T	74817603	C	T	74817603	3	4	98	1	0	0	0	0	1	0	0	0	6306	710	25	2	339	2	GDA	9	74817603	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1916488	74817603	66395828	789	65119											
PRUNE2	158471	broad.mit.edu	37	chr9	79323686	79323686	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggttccagctgtctcacTgtaaatcgggtttccggctc	11	12	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:79323686T>G	uc010mpk.2	-	8	3628	c.3504A>C	c.(3502-3504)ACA>ACC	p.T1168T		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1168					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						GCTGTCTCACTGTAAATCGGG	0.542													G	79323686	T	G	79323686	2	3	98	1	0	0	0	0	0	0	0	1	12641	1567	55	5		5	PRUNE2	9	79323686	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	4506083	79323686	61889745	790	65120											
PSAT1	29968	broad.mit.edu	37	chr9	80943978	80943978	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggccgccttcatgaaaaaAtttttggagatgcatcagct	9	9	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:80943978A>T	uc004ala.2	+	9	1157	c.1089A>T	c.(1087-1089)AAA>AAT	p.K363N	PSAT1_uc004alb.2_Missense_Mutation_p.K317N	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1 isoform 1	363					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	TCATGAAAAAATTTTTGGAGA	0.423													T	80943978	A	T	80943978	3	4	98	1	0	0	0	0	1	0	0	0	12644	98	4	5	1123	5	PSAT1	9	80943978	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1620292	80943978	60269453	791	65121											
NAA35	60560	broad.mit.edu	37	chr9	88631566	88631567	+	Frame_Shift_Ins	INS	-	-	A													gcagaaaggccgtagtagtaINSaaaaaacaaagaaaaaaaag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:88631565_88631566T>TA	uc004aoi.4	+	17	1817_1818	c.1680_1681T>TA	c.(1678-1683)agtaaafs	p.S560fs	NAA35_uc004aoj.4_Frame_Shift_Ins_p.S560fs	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.	560					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		p.T563fs*10(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						GCCGTAGTAGTAAAAAAACAAA	0.376													A	88631567	-	A	88631566	7	5	98	1	0	1	1	0	0	0	0	0	10123	363	13	0	1747	0	NAA35	9	88631566	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	7687588	88631566	52581865	792	65122											
GAS1	2619	broad.mit.edu	37	chr9	89560829	89560829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcggtgggtgcgggacgCcgtcgtcgtcgtccagcggc	20	13	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:89560829C>T	uc004aox.3	-	1	1276	c.866G>A	c.(865-867)GGC>GAC	p.G289D	uc004aoy.2_5'Flank	NM_002048	NP_002039	P54826	GAS1_HUMAN	growth arrest-specific 1 precursor	289					cell cycle arrest|negative regulation of S phase of mitotic cell cycle	anchored to plasma membrane					0						GTGCGGGACGCCGTCGTCGTC	0.697													T	89560829	C	T	89560829	3	4	98	1	0	0	0	0	1	0	0	0	6244	739	26	2	175	2	GAS1	9	89560829	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	929263	89560829	51652602	793	65123											
DAPK1	1612	broad.mit.edu	37	chr9	90317955	90317955	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctctaggtctgtcctccCatgactcacctgtgtgagaa	8	15	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:90317955C>T	uc004apc.2	+	25	3021	c.2883C>T	c.(2881-2883)CCC>CCT	p.P961P	DAPK1_uc004apd.2_Silent_p.P961P|DAPK1_uc011ltg.1_Silent_p.P895P|DAPK1_uc011lth.1_Silent_p.P698P	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	961					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						TCTGTCCTCCCATGACTCACC	0.562									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				T	90317955	C	T	90317955	2	4	98	1	0	0	0	0	0	0	0	1	4235	581	21	4		4	DAPK1	9	90317955	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	757126	90317955	50895476	794	65124											
SEMA4D	10507	broad.mit.edu	37	chr9	92006233	92006233	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaacacaaactcatactcCacagacacctccgtgaagaa	5	14	1	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:92006233C>A	uc004aqo.1	-	11	1292	c.720G>T	c.(718-720)GTG>GTT	p.V240V	SEMA4D_uc011ltm.1_Silent_p.V240V|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Silent_p.V238V	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	240	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						ACTCATACTCCACAGACACCT	0.557													A	92006233	C	A	92006233	2	1	98	1	0	0	0	0	0	0	0	1	14034	581	21	5		5	SEMA4D	9	92006233	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1688278	92006233	49207198	795	65125											
IARS	3376	broad.mit.edu	37	chr9	95033316	95033316	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtggcaaccagaagtcGgccttgttccttcaaagtcc	12	11	1	1	rs140292751		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:95033316G>A	uc004art.1	-	12	1413	c.1156C>T	c.(1156-1158)CGA>TGA	p.R386*	IARS_uc004ars.1_Nonsense_Mutation_p.R231*|IARS_uc004aru.3_Nonsense_Mutation_p.R386*|IARS_uc010mqr.2_Nonsense_Mutation_p.R276*|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	386					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)	ACCAGAAGTCGGCCTTGTTCC	0.383													A	95033316	G	A	95033316	4	1	98	1	0	0	0	0	0	1	0	0	7473	1124	39	1	2724	1	IARS	9	95033316	Nonsense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3027083	95033316	46180115	796	65126											
HABP4	22927	broad.mit.edu	37	chr9	99220764	99220764	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggagatcctacagggaataCcgaccctatgagacagagag	12	10	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:99220764C>A	uc010msg.2	+	2	601	c.453C>A	c.(451-453)TAC>TAA	p.Y151*	HABP4_uc010msh.2_Nonsense_Mutation_p.Y151*	NM_014282	NP_055097	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	151					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				ACAGGGAATACCGACCCTATG	0.567													A	99220764	C	A	99220764	4	1	98	1	0	0	0	0	0	1	0	0	6939	518	18	5	459	5	HABP4	9	99220764	Nonsense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	4187448	99220764	41992667	797	65127											
ABCA1	19	broad.mit.edu	37	chr9	107571802	107571802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagggtctttggtgagggCgtttaagagttccagggttc	16	7	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:107571802C>T	uc004bcl.2	-	30	4532	c.4219G>A	c.(4219-4221)GCC>ACC	p.A1407T		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1407	Extracellular.		A -> T (in a colorectal cancer sample; somatic mutation).		Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	p.A1407T(1)		large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTGGTGAGGGCGTTTAAGAGT	0.517													T	107571802	C	T	107571802	3	4	98	1	0	0	0	0	1	0	0	0	28	768	27	1	2650	1	ABCA1	9	107571802	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	8351038	107571802	33641629	798	65128											
ZNF462	58499	broad.mit.edu	37	chr9	109690810	109690810	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactaccagaagcgacacccGtccatcaaggtgaccgctga	9	15	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:109690810G>A	uc004bcz.2	+	3	4906	c.4617G>A	c.(4615-4617)CCG>CCA	p.P1539P	ZNF462_uc010mto.2_Silent_p.P1387P|ZNF462_uc004bda.2_Silent_p.P1387P	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1539					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						AGCGACACCCGTCCATCAAGG	0.542													A	109690810	G	A	109690810	2	1	98	1	0	0	0	0	0	0	0	1	17923	1132	40	1		1	ZNF462	9	109690810	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2119008	109690810	31522621	799	65129											
KLF4	9314	broad.mit.edu	37	chr9	110250473	110250473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtctgtggccacggtcgCcgccgccaggtcataggggc	16	14	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:110250473C>T	uc004bdh.2	-	3	796	c.175G>A	c.(175-177)GCG>ACG	p.A59T	KLF4_uc004bdf.1_Missense_Mutation_p.A18T|KLF4_uc004bdg.2_Missense_Mutation_p.A68T	NM_004235	NP_004226	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	68					fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(2)|lung(1)	3						GCCACGGTCGCCGCCGCCAGG	0.706													T	110250473	C	T	110250473	3	4	98	1	0	0	0	0	1	0	0	0	8348	739	26	2	1249	2	KLF4	9	110250473	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	559663	110250473	30962958	800	65130											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112705624	112705624	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagagccctcatccccagaAgggaaggaagagagcctagc	12	12	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:112705624A>C	uc004bei.2	+	7	1347	c.1155A>C	c.(1153-1155)GAA>GAC	p.E385D	PALM2_uc004bef.2_Missense_Mutation_p.E387D|PALM2_uc004beg.2_Missense_Mutation_p.E353D|PALM2_uc004beh.3_Missense_Mutation_p.E385D|PALM2-AKAP2_uc004bek.3_Intron|PALM2-AKAP2_uc004bej.3_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	Error:Variant_position_missing_in_Q9Y2D5_after_alignment							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						CATCCCCAGAAGGGAAGGAAG	0.557													C	112705624	A	C	112705624	3	2	98	1	0	0	0	0	1	0	0	0	11410	69	3	5		5	PALM2-AKAP2	9	112705624	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	2455151	112705624	28507807	801	65131											
TXN	7295	broad.mit.edu	37	chr9	113013693	113013693	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accacgtggctgagaagtcaActactacaagtttatcacct	7	11	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:113013693A>G	uc004bep.1	-	2	137	c.74T>C	c.(73-75)GTT>GCT	p.V25A	TXN_uc004beq.1_Missense_Mutation_p.V25A	NM_003329	NP_003320	P10599	THIO_HUMAN	thioredoxin	25	Thioredoxin.				cell proliferation|cell-cell signaling|cellular component movement|electron transport chain|glycerol ether metabolic process|nucleobase, nucleoside and nucleotide interconversion|positive regulation of DNA binding|regulation of protein import into nucleus, translocation|response to radiation|signal transduction|transcription, DNA-dependent|transport	cytosol|extracellular region|nucleoplasm	electron carrier activity|protein binding|protein disulfide oxidoreductase activity				0				OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)		TGAGAAGTCAACTACTACAAG	0.353													G	113013693	A	G	113013693	3	3	98	1	0	0	0	0	1	0	0	0	16787	43	2	3	259	3	TXN	9	113013693	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	308069	113013693	28199738	802	65132											
SVEP1	79987	broad.mit.edu	37	chr9	113141745	113141745	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtctccatattgataatgTacgcctcgagcaattgcatt	7	9	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:113141745T>C	uc010mtz.2	-	44	10627	c.10290A>G	c.(10288-10290)GTA>GTG	p.V3430V	SVEP1_uc010mty.2_Silent_p.V1356V	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	3430	Sushi 34.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						ATTGATAATGTACGCCTCGAG	0.398													C	113141745	T	C	113141745	2	2	98	1	0	0	0	0	0	0	0	1	15417	1625	57	3		3	SVEP1	9	113141745	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	128052	113141745	28071686	803	65133											
ZNF483	158399	broad.mit.edu	37	chr9	114293219	114293222	+	Frame_Shift_Del	DEL	TGTT	TGTT	-													aaagaggataaaatggtcacTgtttgtcccaatactgagtc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:114293219_114293222delTGTT	uc004bff.2	+	3	701_704	c.477_480delTGTT	c.(475-480)ACTGTTfs	p.T159fs	ZNF483_uc011lwq.1_Frame_Shift_Del_p.T159fs|ZNF483_uc004bfg.2_Frame_Shift_Del_p.T159fs	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	159_160					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						AAATGGTCACTGTTTGTCCCAATA	0.377													-	114293222	TGTT	-	114293219	7	5	98	1	0	1	0	1	0	0	0	0	17933	1567	55	0	483	0	ZNF483	9	114293219	Frame_Shift_Del	DEL	TGTT	TCGA-BR-8591-01A-11D-2394-08	1151474	114293219	26920212	804	65134											
ZNF483	158399	broad.mit.edu	37	chr9	114304767	114304767	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaacatcagagaattcatActggagaaaaaccttataaa	5	6	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:114304767A>G	uc004bff.2	+	6	1776	c.1552A>G	c.(1552-1554)ACT>GCT	p.T518A	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	518					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						GAGAATTCATACTGGAGAAAA	0.388													G	114304767	A	G	114304767	3	3	98	1	0	0	0	0	1	0	0	0	17933	391	14	3	1570	3	ZNF483	9	114304767	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	11548	114304767	26908664	805	65135											
C9orf84	158401	broad.mit.edu	37	chr9	114453907	114453907	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctaaactttttccagctctTtggtagaaataaaggctgtt	7	8	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:114453907T>C	uc004bfr.2	-	25	4293	c.4158A>G	c.(4156-4158)CAA>CAG	p.Q1386Q	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Silent_p.Q1347Q|C9orf84_uc010mug.2_Silent_p.Q1297Q	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	1386										ovary(2)	2						TTCCAGCTCTTTGGTAGAAAT	0.358													C	114453907	T	C	114453907	2	2	98	1	0	0	0	0	0	0	0	1	2500	1838	64	3		3	C9orf84	9	114453907	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	149140	114453907	26759524	806	65136											
ZFP37	7539	broad.mit.edu	37	chr9	115805377	115805377	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgtatgagttctcatAtggtaagtaagagatgagct	10	6	2	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:115805377A>G	uc004bgm.1	-	4	1549	c.1521T>C	c.(1519-1521)CAT>CAC	p.H507H	ZFP37_uc011lwz.1_Silent_p.H522H|ZFP37_uc011lxa.1_Silent_p.H508H	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	507	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						GAGTTCTCATATGGTAAGTAA	0.368													G	115805377	A	G	115805377	2	3	98	1	0	0	0	0	0	0	0	1	17645	446	16	3		3	ZFP37	9	115805377	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1351470	115805377	25408054	807	65137											
DBC1	1620	broad.mit.edu	37	chr9	121929807	121929807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgtaggtagatgtggaccGtctcgaaaaatgttttccac	10	8	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:121929807G>A	uc004bkc.2	-	8	2297	c.1841C>T	c.(1840-1842)ACG>ATG	p.T614M		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	614					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						GATGTGGACCGTCTCGAAAAA	0.552													A	121929807	G	A	121929807	3	1	98	1	0	0	0	0	1	0	0	0	4247	1145	40	1	448	1	DBC1	9	121929807	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	6124430	121929807	19283624	808	65138											
CRB2	286204	broad.mit.edu	37	chr9	126133621	126133621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggtgatgctcagcttcGggcctgaccagctgcaggac	13	13	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:126133621G>A	uc004bnx.1	+	8	2292	c.2200G>A	c.(2200-2202)GGG>AGG	p.G734R	CRB2_uc004bnw.1_Missense_Mutation_p.G734R	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	734	Extracellular (Potential).|Laminin G-like 2.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						GCTCAGCTTCGGGCCTGACCA	0.692													A	126133621	G	A	126133621	3	1	98	1	0	0	0	0	1	0	0	0	3849	1116	39	1	2230	1	CRB2	9	126133621	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	4203814	126133621	15079810	809	65139											
CRB2	286204	broad.mit.edu	37	chr9	126134595	126134595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctcccacctgccacgtGtgaggaggtccctgatggct	12	14	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:126134595G>A	uc004bnx.1	+	9	2668	c.2576G>A	c.(2575-2577)TGT>TAT	p.C859Y	CRB2_uc004bnw.1_Missense_Mutation_p.C859Y	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	859	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						CCTGCCACGTGTGAGGAGGTC	0.408													A	126134595	G	A	126134595	3	1	98	1	0	0	0	0	1	0	0	0	3849	1377	48	4	2610	4	CRB2	9	126134595	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	974	126134595	15078836	810	65140											
PPP6C	5537	broad.mit.edu	37	chr9	127911967	127911967	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcctcaaaggaaatatggCgttgtcgttctgggaggaat	14	6	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:127911967C>T	uc004bpg.3	-	7	1124	c.903G>A	c.(901-903)ACG>ACA	p.T301T	PPP6C_uc010mwv.2_Silent_p.T338T|PPP6C_uc010mww.2_Silent_p.T279T|PPP6C_uc011lzr.1_Silent_p.T154T	NM_002721	NP_002712	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit isoform	301					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			ovary(1)|skin(1)	2						GGAAATATGGCGTTGTCGTTC	0.418													T	127911967	C	T	127911967	2	4	98	1	0	0	0	0	0	0	0	1	12407	755	27	1		1	PPP6C	9	127911967	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1777372	127911967	13301464	811	65141											
ZBTB43	23099	broad.mit.edu	37	chr9	129596068	129596068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattcacacaggcataaagcCgtatgagtgtaatatctgtg	9	7	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:129596068C>T	uc004bql.2	+	3	1553	c.1280C>T	c.(1279-1281)CCG>CTG	p.P427L	ZBTB43_uc010mxf.2_Missense_Mutation_p.P427L	NM_014007	NP_054726	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GGCATAAAGCCGTATGAGTGT	0.488													T	129596068	C	T	129596068	3	4	98	1	0	0	0	0	1	0	0	0	17541	652	23	1	1282	1	ZBTB43	9	129596068	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1684101	129596068	11617363	812	65142											
FPGS	2356	broad.mit.edu	37	chr9	130571113	130571113	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggcatccaggccagggctCctgtggcagctgcccctggc	14	15	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:130571113C>T	uc004bsg.1	+	11	1055	c.1005C>T	c.(1003-1005)CTC>CTT	p.L335L	FPGS_uc004bsh.1_Silent_p.L152L|FPGS_uc011mal.1_Silent_p.L309L|FPGS_uc004bsi.1_Silent_p.L285L	NM_004957	NP_004948	Q05932	FOLC_HUMAN	folylpolyglutamate synthase isoform a precursor	335					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity				0					L-Glutamic Acid(DB00142)	GGCCAGGGCTCCTGTGGCAGC	0.657													T	130571113	C	T	130571113	2	4	98	1	0	0	0	0	0	0	0	1	6036	842	30	4		4	FPGS	9	130571113	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	975045	130571113	10642318	813	65143											
NAIF1	203245	broad.mit.edu	37	chr9	130829050	130829050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccgccaccactgccacCgcctgtcccaggccccccag	8	24	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:130829050C>T	uc004bta.2	-	1	550	c.331G>A	c.(331-333)GGT>AGT	p.G111S	NAIF1_uc004bsz.2_Intron|SLC25A25_uc004btb.2_5'Flank	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	111	Gly-rich.				apoptosis|induction of apoptosis	nucleus					0						CCACTGCCACCGCCTGTCCCA	0.701													T	130829050	C	T	130829050	3	4	98	1	0	0	0	0	1	0	0	0	10146	652	23	1	660	1	NAIF1	9	130829050	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	257937	130829050	10384381	814	65144											
SLC25A25	114789	broad.mit.edu	37	chr9	130868770	130868770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatgctgggcatcatccccTatgccggcatcgaccttgca	9	15	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:130868770T>C	uc004bte.2	+	8	1074	c.1045T>C	c.(1045-1047)TAT>CAT	p.Y349H	SLC25A25_uc004btb.2_Missense_Mutation_p.Y383H|SLC25A25_uc004btc.2_Missense_Mutation_p.Y369H|SLC25A25_uc004btd.2_Missense_Mutation_p.Y381H|SLC25A25_uc004btf.2_Missense_Mutation_p.Y246H	NM_052901	NP_443133	Q6KCM7	SCMC2_HUMAN	solute carrier family 25, member 25 isoform a	349	Solcar 2.|Helical; Name=4; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding				0						CATCATCCCCTATGCCGGCAT	0.592													C	130868770	T	C	130868770	3	2	98	1	0	0	0	0	1	0	0	0	14488	1522	53	3	1563	3	SLC25A25	9	130868770	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	39720	130868770	10344661	815	65145											
CIZ1	25792	broad.mit.edu	37	chr9	130941148	130941148	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgcgctggaggatgctcCtgtggctggacgcttggctg	16	11	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:130941148C>A	uc004btt.2	-	8	1501	c.1338G>T	c.(1336-1338)CAG>CAT	p.Q446H	CIZ1_uc004btr.2_Missense_Mutation_p.Q418H|CIZ1_uc004bts.2_Missense_Mutation_p.Q417H|CIZ1_uc011maq.1_Missense_Mutation_p.Q385H|CIZ1_uc004btu.2_Missense_Mutation_p.Q366H|CIZ1_uc011mar.1_Missense_Mutation_p.Q345H|CIZ1_uc011mas.1_Missense_Mutation_p.Q476H|CIZ1_uc004btw.2_Missense_Mutation_p.Q390H|CIZ1_uc004btv.2_Missense_Mutation_p.Q446H|CIZ1_uc004btx.2_Missense_Mutation_p.Q422H	NM_001131016	NP_001124488	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1 isoform	446	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4						GAGGATGCTCCTGTGGCTGGA	0.617													A	130941148	C	A	130941148	3	1	98	1	0	0	0	0	1	0	0	0	3441	680	24	5	1398	5	CIZ1	9	130941148	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	72378	130941148	10272283	816	65146											
DNM1	1759	broad.mit.edu	37	chr9	130984785	130984785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgagaagcgcattgagggCtcaggagatcagatcgacac	13	8	2	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:130984785C>T	uc011mau.1	+	8	1125	c.1038C>T	c.(1036-1038)GGC>GGT	p.G346G	DNM1_uc010mxr.2_Silent_p.G346G|DNM1_uc011mat.1_Silent_p.G346G	NM_004408	NP_004399	Q05193	DYN1_HUMAN	dynamin 1 isoform 1	346					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			ovary(2)	2						GCATTGAGGGCTCAGGAGATC	0.592													T	130984785	C	T	130984785	2	4	98	1	0	0	0	0	0	0	0	1	4670	784	28	2		2	DNM1	9	130984785	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	43637	130984785	10228646	817	65147											
PPP2R4	5524	broad.mit.edu	37	chr9	131885369	131885369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggattcatccttaccctcaaCgaaggtgtgaaggggaagaa	12	8	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:131885369C>T	uc004bxm.1	+	3	435	c.168C>T	c.(166-168)AAC>AAT	p.N56N	PPP2R4_uc004bxl.1_Silent_p.N56N|PPP2R4_uc011mbo.1_Silent_p.N56N|PPP2R4_uc010myr.1_Intron|PPP2R4_uc004bxn.1_Silent_p.N56N|PPP2R4_uc004bxo.1_Silent_p.N56N|PPP2R4_uc011mbp.1_Intron|PPP2R4_uc011mbq.1_Silent_p.N56N|PPP2R4_uc010mys.1_Silent_p.N21N	NM_178001	NP_821068	Q15257	PTPA_HUMAN	protein phosphatase 2A, regulatory subunit B'	56					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			ovary(1)|lung(1)|pancreas(1)	3		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		TTACCCTCAACGAAGGTGTGA	0.572													T	131885369	C	T	131885369	2	4	98	1	0	0	0	0	0	0	0	1	12391	535	19	1		1	PPP2R4	9	131885369	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	900584	131885369	9328062	818	65148											
ASB6	140459	broad.mit.edu	37	chr9	132400192	132400193	+	Frame_Shift_Del	DEL	CA	CA	-													tgaaggtagagccggatggcCacacggcacaggtgcttgag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:132400191_132400192CCA>C	uc004byf.2	-	5	1313_1314	c.1143_1144TGG>G	c.(1141-1146)gtggccfs	p.V381fs	ASB6_uc004bye.1_Frame_Shift_Del_p.V306fs|ASB6_uc010myx.2_Frame_Shift_Del_p.V352fs|ASB6_uc004byg.2_3'UTR|ASB6_uc011mbt.2_Frame_Shift_Del_p.V302fs	NM_017873	NP_060343	Q9NWX5	ASB6_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 6 (ASB6), transcript variant 1, mRNA.	381	SOCS box.				intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				AGCCGGATGGCCACACGGCACA	0.629													-	132400193	CA	-	132400192	7	5	98	1	0	1	0	1	0	0	0	0	1027	581	21	0	126	0	ASB6	9	132400192	Frame_Shift_Del	DEL	CA	TCGA-BR-8591-01A-11D-2394-08	514823	132400192	8813239	819	65149											
LAMC3	10319	broad.mit.edu	37	chr9	133901811	133901811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctgccagaagacctaCggccggcccgagggccagta	13	16	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:133901811C>T	uc004caa.1	+	2	611	c.513C>T	c.(511-513)TAC>TAT	p.Y171Y		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	171	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGAAGACCTACGGCCGGCCCG	0.677													T	133901811	C	T	133901811	2	4	98	1	0	0	0	0	0	0	0	1	8616	547	19	1		1	LAMC3	9	133901811	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1501619	133901811	7311620	820	65150											
BAT2L1	84726	broad.mit.edu	37	chr9	134360159	134360159	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccaatgtccttccccacCgccgaccttactctgaaggt	6	18	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:134360159C>T	uc004can.3	+	23	5602	c.5547C>T	c.(5545-5547)ACC>ACT	p.T1849T	BAT2L1_uc004cao.3_Silent_p.T1206T|BAT2L1_uc004cap.3_5'Flank|SNORD62A_uc004caq.2_5'Flank	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1849							protein binding				0						CCTTCCCCACCGCCGACCTTA	0.602													T	134360159	C	T	134360159	2	4	98	1	0	0	0	0	0	0	0	1	1320	639	23	1		1	BAT2L1	9	134360159	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	458348	134360159	6853272	821	65151											
GTF3C4	9329	broad.mit.edu	37	chr9	135553584	135553584	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggacaatcgcctgaccaTccaggcaaatctcaacagac	7	14	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:135553584T>C	uc010mzv.2	+	2	836	c.578T>C	c.(577-579)ATC>ACC	p.I193T	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	193					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CGCCTGACCATCCAGGCAAAT	0.507													C	135553584	T	C	135553584	3	2	98	1	0	0	0	0	1	0	0	0	6875	1435	50	3	584	3	GTF3C4	9	135553584	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1193425	135553584	5659847	822	65152											
C9orf98	158067	broad.mit.edu	37	chr9	135739050	135739050	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccccggggccagtcctAccttcctttgcagataaagc	9	15	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:135739050A>G	uc004cbu.1	-	4	889	c.333_splice	c.e4+1	p.K111_splice	C9orf98_uc010mzx.1_Splice_Site|C9orf98_uc004cbv.1_Splice_Site	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	putative adenylate kinase-like protein C9orf98							cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)		GGCCAGTCCTACCTTCCTTTG	0.522													G	135739050	A	G	135739050	5	3	98	1	0	0	0	0	0	0	1	0	2509	405	14	3	1144	3	C9orf98	9	135739050	Splice_Site	SNP	A	TCGA-BR-8591-01A-11D-2394-08	185466	135739050	5474381	823	65153											
SLC2A6	11182	broad.mit.edu	37	chr9	136341419	136341420	+	Frame_Shift_Ins	INS	-	-	C													tggggtgtggcccccagagcINScccacgaacgcctgggggag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:136341418_136341419G>GC	uc004cee.3	-	3	597_598	c.502_503C>GC	c.(502-504)gctfs	p.A168fs	SLC2A6_uc004cef.3_Frame_Shift_Ins_p.A168fs|SLC2A6_uc004ceg.3_Frame_Shift_Ins_p.A168fs|SLC2A6_uc011mdj.1_Frame_Shift_Ins_p.A168fs	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 6 (SLC2A6), transcript variant 1, mRNA.	168						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GGCCCCCAGAGCCCCACGAACG	0.629													C	136341420	-	C	136341419	7	5	98	1	0	1	1	0	0	0	0	0	14549	739	26	0	1049	0	SLC2A6	9	136341419	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	602369	136341419	4872012	824	65154											
ADAMTSL2	9719	broad.mit.edu	37	chr9	136406014	136406014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcccatcggctgtgaCggggtgcttttctccaccca	11	15	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:136406014C>T	uc011mdl.1	+	7	1130	c.573C>T	c.(571-573)GAC>GAT	p.D191D	ADAMTSL2_uc004cei.2_Silent_p.D191D	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN	ADAMTS-like 2 precursor	191					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		TCGGCTGTGACGGGGTGCTTT	0.687													T	136406014	C	T	136406014	2	4	98	1	0	0	0	0	0	0	0	1	275	535	19	1		1	ADAMTSL2	9	136406014	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	64595	136406014	4807417	825	65155											
SARDH	1757	broad.mit.edu	37	chr9	136594912	136594912	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccctcgatgcgctcggtgAcgacataggcatggtgcatg	13	12	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:136594912A>G	uc004cep.3	-	6	1024	c.890T>C	c.(889-891)GTC>GCC	p.V297A	SARDH_uc004ceo.2_Missense_Mutation_p.V297A|SARDH_uc011mdn.1_Missense_Mutation_p.V297A|SARDH_uc011mdo.1_Missense_Mutation_p.V129A	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	297					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCGCTCGGTGACGACATAGGC	0.507													G	136594912	A	G	136594912	3	3	98	1	0	0	0	0	1	0	0	0	13841	275	10	3	1930	3	SARDH	9	136594912	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	188898	136594912	4618519	826	65156											
KIAA0649	9858	broad.mit.edu	37	chr9	138377333	138377333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagccggcaaccccctgccGcccttcagaagcagcacaga	10	17	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:138377333G>A	uc004cfr.1	+	4	1526	c.977G>A	c.(976-978)CGC>CAC	p.R326H		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	326						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		ACCCCCTGCCGCCCTTCAGAA	0.622													A	138377333	G	A	138377333	3	1	98	1	0	0	0	0	1	0	0	0	8187	1087	38	1	979	1	KIAA0649	9	138377333	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1782421	138377333	2836098	827	65157											
C9orf116	138162	broad.mit.edu	37	chr9	138387292	138387292	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaatcgcagatggatggcCtgttgatgttgtaactgggg	14	7	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:138387292C>A	uc004cft.1	-	3	456	c.392G>T	c.(391-393)AGG>ATG	p.R131M	C9orf116_uc004cfs.1_3'UTR|C9orf116_uc004cfu.1_RNA	NM_001048265	NP_001041730	Q5BN46	CI116_HUMAN	hypothetical protein LOC138162 isoform 1	131											0				OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		GATGGATGGCCTGTTGATGTT	0.547													A	138387292	C	A	138387292	3	1	98	1	0	0	0	0	1	0	0	0	2450	681	24	5	22	5	C9orf116	9	138387292	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	9959	138387292	2826139	828	65158											
CAMSAP1	157922	broad.mit.edu	37	chr9	138713233	138713234	+	Frame_Shift_Ins	INS	-	-	G													ttccggccttgacccagccgINSgggggctttgcggtggccag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:138713232_138713233C>CG	uc004cgr.4	-	10	3274_3275	c.3274_3275G>CG	c.(3274-3276)cggfs	p.R1092fs	CAMSAP1_uc004cgq.4_Frame_Shift_Ins_p.R982fs|CAMSAP1_uc010nbg.3_Frame_Shift_Ins_p.R814fs	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	1092						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TTGACCCAGCCGGGGGGCTTTG	0.629													G	138713234	-	G	138713233	7	5	98	1	0	1	1	0	0	0	0	0	2611	1115	39	0	1562	0	CAMSAP1	9	138713233	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	325941	138713233	2500198	829	65159											
NOTCH1	4851	broad.mit.edu	37	chr9	139400304	139400304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgccgcaggtacgagcGtcattctcacacgtggcgcc	13	14	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:139400304G>A	uc004chz.2	-	25	4044	c.4044C>T	c.(4042-4044)GAC>GAT	p.D1348D	NOTCH1_uc004cia.1_Silent_p.D578D	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1348	Extracellular (Potential).|EGF-like 35.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTACGAGCGTCATTCTCAC	0.736			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			A	139400304	G	A	139400304	2	1	98	1	0	0	0	0	0	0	0	1	10547	1136	40	1		1	NOTCH1	9	139400304	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	687071	139400304	1813127	830	65160											
AGPAT2	10555	broad.mit.edu	37	chr9	139571443	139571443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatgcgctcgcccaggtcGgccatcactgtcatggcagt	11	15	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:139571443G>A	uc004cii.1	-	3	564	c.462C>T	c.(460-462)GCC>GCT	p.A154A	AGPAT2_uc004cij.1_Silent_p.A154A	NM_006412	NP_006403	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	154					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CGCCCAGGTCGGCCATCACTG	0.687													A	139571443	G	A	139571443	2	1	98	1	0	0	0	0	0	0	0	1	387	1103	39	1		1	AGPAT2	9	139571443	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	171139	139571443	1641988	831	65161											
FAM69B	138311	broad.mit.edu	37	chr9	139617494	139617494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttcaacaaggacaaccgGgtgtccctggcggaagccaa	12	12	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:139617494G>A	uc004cik.2	+	5	658	c.564G>A	c.(562-564)CGG>CGA	p.R188R	FAM69B_uc004cil.2_Silent_p.R101R|SNHG7_uc004cim.2_RNA	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	hypothetical protein LOC138311	188	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		AGGACAACCGGGTGTCCCTGG	0.637													A	139617494	G	A	139617494	2	1	98	1	0	0	0	0	0	0	0	1	5603	1219	43	4		4	FAM69B	9	139617494	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	46051	139617494	1595937	832	65162											
C9orf86	55684	broad.mit.edu	37	chr9	139726255	139726255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaactaccgggacatgGgcgagcaccgagtcatcctg	14	11	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:139726255G>A	uc004cji.1	+	6	809	c.541G>A	c.(541-543)GGC>AGC	p.G181S	C9orf86_uc004cjm.2_Missense_Mutation_p.G181S|C9orf86_uc004cjh.2_Missense_Mutation_p.G181S|C9orf86_uc004cjj.1_Missense_Mutation_p.G181S|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Missense_Mutation_p.G181S|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Missense_Mutation_p.G66S	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN	Rab-like GTP-binding protein 1 isoform 1	181	Small GTPase-like.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		CCGGGACATGGGCGAGCACCG	0.632													A	139726255	G	A	139726255	3	1	98	1	0	0	0	0	1	0	0	0	2502	1232	43	4	563	4	C9orf86	9	139726255	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	108761	139726255	1487176	833	65163											
ABCA2	20	broad.mit.edu	37	chr9	139910762	139910762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggtggtggtcttgcccgCcccgttgtggcccaagaagg	15	12	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:139910762C>T	uc011mem.1	-	20	3230	c.3082G>A	c.(3082-3084)GCG>ACG	p.A1028T	ABCA2_uc011mel.1_Missense_Mutation_p.A1029T|ABCA2_uc004ckl.1_Missense_Mutation_p.A959T|ABCA2_uc004ckm.1_Missense_Mutation_p.A1059T|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1028	ABC transporter 1.|ATP 1 (Potential).				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTCTTGCCCGCCCCGTTGTGG	0.622													T	139910762	C	T	139910762	3	4	98	1	0	0	0	0	1	0	0	0	32	739	26	2	4341	2	ABCA2	9	139910762	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	184507	139910762	1302669	834	65164											
DPP7	29952	broad.mit.edu	37	chr9	140006327	140006327	+	Splice_Site	DEL	C	C	-													accccccctcagccttaccaCccccccagaagctggtcagc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:140006326_140006326AC>A	uc004clh.3	-	10	1237	c.1207_splice	c.e10+1	p.D403_splice		NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	Homo sapiens dipeptidyl-peptidase 7 (DPP7), mRNA.	403						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity	p.D403fs*1(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		CAGCCTTACCACCCCCCCAGA	0.701													-	140006327	C	-	140006327	8	5	98	1	0	1	0	1	0	0	1	0	4731	507	18	0	289	0	DPP7	9	140006327	Splice_Site	DEL	C	TCGA-BR-8591-01A-11D-2394-08	95565	140006327	1207104	835	65165											
GRIN1	2902	broad.mit.edu	37	chr9	140055866	140055866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagttcggcacacaggagCgggtaggctggacggcgggg	20	9	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:140055866C>T	uc004clk.2	+	10	1795	c.1465C>T	c.(1465-1467)CGG>TGG	p.R489W	GRIN1_uc004cli.1_Missense_Mutation_p.R164W|GRIN1_uc004clj.1_Missense_Mutation_p.R486W|GRIN1_uc004cll.2_Missense_Mutation_p.R489W|GRIN1_uc004clm.2_Missense_Mutation_p.R489W|GRIN1_uc004cln.2_Missense_Mutation_p.R507W|GRIN1_uc004clo.2_Missense_Mutation_p.R507W	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	489	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			skin(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CACACAGGAGCGGGTAGGCTG	0.652													T	140055866	C	T	140055866	3	4	98	1	0	0	0	0	1	0	0	0	6778	759	27	1	1570	1	GRIN1	9	140055866	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	49539	140055866	1157565	836	65166											
SLC34A3	142680	broad.mit.edu	37	chr9	140127764	140127764	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggagaggctaagtgagCtagccctgggtgccgccagc	16	11	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:140127764C>T	uc004cmf.1	+	7	850	c.664C>T	c.(664-666)CTA>TTA	p.L222L	SLC34A3_uc004cmc.1_Silent_p.L79L|SLC34A3_uc004cmd.1_Silent_p.L222L|SLC34A3_uc011met.1_Silent_p.L222L	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	solute carrier family 34 (sodium phosphate),	222	Extracellular (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCTAAGTGAGCTAGCCCTGGG	0.657													T	140127764	C	T	140127764	2	4	98	1	0	0	0	0	0	0	0	1	14569	796	28	2		2	SLC34A3	9	140127764	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	71898	140127764	1085667	837	65167											
FAM166A	401565	broad.mit.edu	37	chr9	140140252	140140252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcagctgccccgtggtaCgcccataggtgttccccacc	11	16	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:140140252C>T	uc004cmi.1	-	2	165	c.110G>A	c.(109-111)CGT>CAT	p.R37H		NM_001001710	NP_001001710	Q6J272	F166A_HUMAN	hypothetical protein LOC401565	37										ovary(1)	1						CCCCGTGGTACGCCCATAGGT	0.612													T	140140252	C	T	140140252	3	4	98	1	0	0	0	0	1	0	0	0	5481	536	19	1	867	1	FAM166A	9	140140252	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	12488	140140252	1073179	838	65168											
PNPLA7	375775	broad.mit.edu	37	chr9	140400150	140400150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccagggtctcatccgtGtgactctctgagtgctggga	14	11	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:140400150G>A	uc004cnf.2	-	13	1651	c.1314C>T	c.(1312-1314)CAC>CAT	p.H438H	C9orf167_uc011mew.1_Intron|PNPLA7_uc011mfa.1_Intron|PNPLA7_uc010ncj.1_Silent_p.H463H	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	438				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509).	lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCTCATCCGTGTGACTCTCTG	0.577													A	140400150	G	A	140400150	2	1	98	1	0	0	0	0	0	0	0	1	12170	1368	48	4		4	PNPLA7	9	140400150	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	259898	140400150	813281	839	65169											
PNPLA7	375775	broad.mit.edu	37	chr9	140416106	140416106	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagcgttgaagagctctgtGgtcaggccgaggtagttgtg	16	7	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:140416106G>T	uc004cnf.2	-	9	1201	c.864C>A	c.(862-864)ACC>ACA	p.T288T	PNPLA7_uc011mfa.1_Silent_p.T19T|PNPLA7_uc010ncj.1_Silent_p.T313T	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	288					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AGAGCTCTGTGGTCAGGCCGA	0.597													T	140416106	G	T	140416106	2	4	98	1	0	0	0	0	0	0	0	1	12170	1335	47	5		5	PNPLA7	9	140416106	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	15956	140416106	797325	840	65170											
EHMT1	79813	broad.mit.edu	37	chr9	140611266	140611266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacacactaactcggataGcggaaaatggggtttcagaa	10	9	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:140611266G>A	uc011mfc.1	+	3	311	c.274G>A	c.(274-276)GCG>ACG	p.A92T	EHMT1_uc004coa.2_Missense_Mutation_p.A92T|EHMT1_uc004cob.1_Missense_Mutation_p.A61T	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	92					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AACTCGGATAGCGGAAAATGG	0.527													A	140611266	G	A	140611266	3	1	98	1	0	0	0	0	1	0	0	0	4983	971	34	2	284	2	EHMT1	9	140611266	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	195160	140611266	602165	841	65171											
CACNA1B	774	broad.mit.edu	37	chr9	141016165	141016165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagagagaccccctcaGccagcccctggcccctggct	11	19	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:141016165G>A	uc004cog.2	+	46	6879	c.6734G>A	c.(6733-6735)AGC>AAC	p.S2245N	CACNA1B_uc004coi.2_Missense_Mutation_p.S1457N	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	2245	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GACCCCCTCAGCCAGCCCCTG	0.672													A	141016165	G	A	141016165	3	1	98	1	0	0	0	0	1	0	0	0	2539	971	34	2	6916	2	CACNA1B	9	141016165	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	404899	141016165	197266	842	65172											
LARP4B	23185	broad.mit.edu	37	chr10	860914	860914	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagctggggagggggatcGctcgtacgttgctgatacag	17	7	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:860914G>A	uc001ifs.1	-	15	1833	c.1792C>T	c.(1792-1794)CGA>TGA	p.R598*		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	598							nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						GAGGGGGATCGCTCGTACGTT	0.547													A	860914	G	A	860914	4	1	98	1	0	0	0	0	0	1	0	0	8631	1095	38	1	436	1	LARP4B	10	860914	Nonsense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08		860914	134673833	843	65173											
PFKP	5214	broad.mit.edu	37	chr10	3172106	3172107	+	Frame_Shift_Ins	INS	-	-	G													gtggctacctggccaacatgINSggggggctcgcggccggagc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:3172105_3172106T>TG	uc001igp.3	+	16	1854_1855	c.1778_1779T>TG	c.(1777-1779)atgfs	p.M593fs	PFKP_uc001igq.3_Frame_Shift_Ins_p.M585fs|PFKP_uc009xhr.3_Frame_Shift_Ins_p.M555fs|PFKP_uc009xhs.1_Frame_Shift_Ins_p.M377fs|PFKP_uc009xht.3_Frame_Shift_Ins_p.M331fs|PFKP_uc009xhu.3_Frame_Shift_Ins_p.M99fs	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	593					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTGGCCAACATGGGGGGGCTCG	0.639													G	3172107	-	G	3172106	7	5	98	1	0	1	1	0	0	0	0	0	11766	1348	47	0	1845	0	PFKP	10	3172106	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	2311192	3172106	132362641	844	65174											
SFMBT2	57713	broad.mit.edu	37	chr10	7213935	7213935	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccggcgccccgcggcccctTcgtgtcctctctgggggtgg	16	17	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:7213935T>C	uc009xio.1	-	19	2428	c.2337A>G	c.(2335-2337)CGA>CGG	p.R779R	SFMBT2_uc001ijn.1_Silent_p.R779R|SFMBT2_uc010qay.1_Silent_p.R614R	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	779					regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						CGCGGCCCCTTCGTGTCCTCT	0.756													C	7213935	T	C	7213935	2	2	98	1	0	0	0	0	0	0	0	1	14158	1770	62	3		3	SFMBT2	10	7213935	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	4041829	7213935	128320812	845	65175											
ITIH2	3698	broad.mit.edu	37	chr10	7774331	7774331	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttagtcttggagaccctgGcccagatggacgacttgcag	13	10	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:7774331G>T	uc001ijs.2	+	14	1840	c.1678G>T	c.(1678-1680)GCC>TCC	p.A560S		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	560					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3						GGAGACCCTGGCCCAGATGGA	0.448													T	7774331	G	T	7774331	3	4	98	1	0	0	0	0	1	0	0	0	7904	1203	42	5	1732	5	ITIH2	10	7774331	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	560396	7774331	127760416	846	65176											
GATA3	2625	broad.mit.edu	37	chr10	8100728	8100728	+	Frame_Shift_Del	DEL	C	C	-													gagtacagctccggactcttCccccccagcagcctgctggg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:8100727_8100727TC>T	uc001ijz.3	+	2	1258	c.701_701TC>T	c.(700-702)ttcfs	p.F234fs	GATA3_uc001ika.3_Frame_Shift_Del_p.F234fs	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	234					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCCGGACTCTTCCCCCCCAGC	0.692			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						-	8100728	C	-	8100728	7	5	98	1	0	1	0	1	0	0	0	0	6255	854	30	0	708	0	GATA3	10	8100728	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	326397	8100728	127434019	847	65177											
CCDC3	83643	broad.mit.edu	37	chr10	13040383	13040383	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcactggagaaagtcgccagCtgctgcccttgcgaacagtt	11	12	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:13040383C>A	uc001ilq.1	-	2	638	c.504G>T	c.(502-504)CAG>CAT	p.Q168H	CCDC3_uc009xjb.1_Intron|CCDC3_uc001ilr.2_RNA|CCDC3_uc009xjc.1_Intron	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3 precursor	168						endoplasmic reticulum|extracellular region				ovary(1)	1		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			AAGTCGCCAGCTGCTGCCCTT	0.458													A	13040383	C	A	13040383	3	1	98	1	0	0	0	0	1	0	0	0	2804	796	28	5	316	5	CCDC3	10	13040383	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	4939655	13040383	122494364	848	65178											
FRMD4A	55691	broad.mit.edu	37	chr10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-													ggatgtggtgggggctgcttGggggggtggctccaatttca							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:13696451_13696451TG>T	uc001ims.3	-	22	3367	c.3015_3015CA>A	c.(3013-3015)ccafs	p.P1005fs	PRPF18_uc001imq.3_Intron|FRMD4A_uc009xjf.1_Frame_Shift_Del_p.P1005fs	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	1005	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGG	0.532													-	13696452	G	-	13696452	7	5	98	1	0	1	0	1	0	0	0	0	6051	1348	47	0	113	0	FRMD4A	10	13696452	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	656069	13696452	121838295	849	65179											
NMT2	9397	broad.mit.edu	37	chr10	15161388	15161388	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgggggaggaaccagTgggctacttcctcttcatcc	12	14	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:15161388T>G	uc001inz.1	-	9	1208	c.1124A>C	c.(1123-1125)CAC>CCC	p.H375P	NMT2_uc001ioa.1_Missense_Mutation_p.H362P|NMT2_uc009xjo.1_Missense_Mutation_p.H375P|NMT2_uc010qbz.1_Missense_Mutation_p.H187P	NM_004808	NP_004799	O60551	NMT2_HUMAN	N-myristoyltransferase 2	375					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			ovary(1)	1						GAGGAACCAGTGGGCTACTTC	0.368													G	15161388	T	G	15161388	3	3	98	1	0	0	0	0	1	0	0	0	10504	1696	59	5	388	5	NMT2	10	15161388	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1464936	15161388	120373359	850	65180											
ITGA8	8516	broad.mit.edu	37	chr10	15760807	15760807	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cctgcactgcgcagacccctCcgcgggccaaggacagtaat	11	16	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:15760807C>A	uc001ioc.1	-	2	301	c.301G>T	c.(301-303)GAG>TAG	p.E101*	ITGA8_uc010qcb.1_Nonsense_Mutation_p.E101*	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	101	Extracellular (Potential).|FG-GAP 1.				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						GCAGACCCCTCCGCGGGCCAA	0.587													A	15760807	C	A	15760807	4	1	98	1	0	0	0	0	0	1	0	0	7882	864	30	5	3006	5	ITGA8	10	15760807	Nonsense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	599419	15760807	119773940	851	65181											
CACNB2	783	broad.mit.edu	37	chr10	18803225	18803225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatattccagcaaaccaccGctcccctaaacccagtgcaa	5	16	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:18803225G>A	uc001ipr.2	+	7	791	c.731G>A	c.(730-732)CGC>CAC	p.R244H	CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Intron|CACNB2_uc001ipt.2_Intron|CACNB2_uc010qcl.1_Intron|CACNB2_uc001ipu.2_Missense_Mutation_p.R216H|CACNB2_uc001ipv.2_Intron|CACNB2_uc009xka.1_Intron|CACNB2_uc001ipw.2_Intron|CACNB2_uc001ipx.2_Missense_Mutation_p.R189H|CACNB2_uc009xkb.1_Intron|CACNB2_uc010qcm.1_Missense_Mutation_p.R190H|CACNB2_uc001ipz.2_Intron|CACNB2_uc001ipy.2_Missense_Mutation_p.R190H|CACNB2_uc010qcn.1_Intron|CACNB2_uc010qco.1_Intron|CACNB2_uc001iqa.2_Missense_Mutation_p.R196H|NSUN6_uc001iqb.2_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	244					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCAAACCACCGCTCCCCTAAA	0.428													A	18803225	G	A	18803225	3	1	98	1	0	0	0	0	1	0	0	0	2553	1087	38	1	977	1	CACNB2	10	18803225	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3042418	18803225	116731522	852	65182											
DNAJC1	64215	broad.mit.edu	37	chr10	22208767	22208767	+	Frame_Shift_Del	DEL	T	T	-													ttatatgctctcacctttcaTttttttctgaagcaccgagt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:22208766_22208766AT>A	uc001irc.3	-	4	917	c.630_630AT>T	c.(628-630)aatfs	p.N210fs	DNAJC1_uc021pnz.1_Non-coding_Transcript	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 1 (DNAJC1), mRNA.	210					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CTCACCTTTCATTTTTTTCTG	0.294													-	22208767	T	-	22208767	7	5	98	1	0	1	0	1	0	0	0	0	4628	1493	52	0	1067	0	DNAJC1	10	22208767	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	3405542	22208767	113325980	853	65183											
KIAA1217	56243	broad.mit.edu	37	chr10	24508698	24508698	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggagacacaccctaggggggCcccgaagttccaaggaaata	13	11	0	1	rs145488505		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:24508698C>G	uc001iru.3	+	2	617	c.214C>G	c.(214-216)CCC>GCC	p.P72A	KIAA1217_uc001irs.2_5'UTR|KIAA1217_uc001irt.3_Missense_Mutation_p.P72A|KIAA1217_uc010qcy.1_Missense_Mutation_p.P72A|KIAA1217_uc010qcz.1_Missense_Mutation_p.P72A	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	72					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						CCTAGGGGGGCCCCGAAGTTC	0.512													G	24508698	C	G	24508698	3	3	98	1	0	0	0	0	1	0	0	0	8216	739	26	5	220	5	KIAA1217	10	24508698	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2299931	24508698	111026049	854	65184											
YME1L1	10730	broad.mit.edu	37	chr10	27411773	27411773	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagactcaattacccaTccatttcagcaagaagttga	6	9	2	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:27411773T>C	uc001iti.2	-	12	1585	c.1403A>G	c.(1402-1404)GAT>GGT	p.D468G	YME1L1_uc001itj.2_Missense_Mutation_p.D411G|YME1L1_uc010qdl.1_Missense_Mutation_p.D378G|YME1L1_uc009xkv.2_Intron	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	468					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						CAATTACCCATCCATTTCAGC	0.338													C	27411773	T	C	27411773	3	2	98	1	0	0	0	0	1	0	0	0	17484	1435	50	3	954	3	YME1L1	10	27411773	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	2903075	27411773	108122974	855	65185											
FZD8	8325	broad.mit.edu	37	chr10	35929556	35929556	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcgtcctggctgaaaaAggggttgtggcagggcagcg	18	9	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:35929556A>G	uc001iyz.1	-	1	807	c.802T>C	c.(802-804)TTT>CTT	p.F268L		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	268	Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0						TGGCTGAAAAAGGGGTTGTGG	0.637													G	35929556	A	G	35929556	3	3	98	1	0	0	0	0	1	0	0	0	6136	72	3	3	1286	3	FZD8	10	35929556	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	8517783	35929556	99605191	856	65186											
FRMPD2	143162	broad.mit.edu	37	chr10	49420083	49420083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaacctggacccgtagagCggtcatcctctcgatcagac	9	14	4	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:49420083C>T	uc001jgi.2	-	13	1632	c.1525G>A	c.(1525-1527)GCT>ACT	p.A509T	FRMPD2_uc001jgh.2_Missense_Mutation_p.A477T|FRMPD2_uc001jgj.2_Missense_Mutation_p.A487T	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	509	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		ACCCGTAGAGCGGTCATCCTC	0.532													T	49420083	C	T	49420083	3	4	98	1	0	0	0	0	1	0	0	0	6058	768	27	1	2472	1	FRMPD2	10	49420083	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	13490527	49420083	86114664	857	65187											
PRKG1	5592	broad.mit.edu	37	chr10	52751304	52751304	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccctcgacccacatcggcCcccggaccacccgggcgcag	11	21	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:52751304C>A	uc001jjm.2	+	1	360	c.166C>A	c.(166-168)CCC>ACC	p.P56T	PRKG1_uc010qhp.1_Missense_Mutation_p.P56T	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	56	Dimerization.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CCACATCGGCCCCCGGACCAC	0.617													A	52751304	C	A	52751304	3	1	98	1	0	0	0	0	1	0	0	0	12522	623	22	5	168	5	PRKG1	10	52751304	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3331221	52751304	82783443	858	65188											
PHYHIPL	84457	broad.mit.edu	37	chr10	60996388	60996388	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattatgttgtgtctgaatGgagtgaaattatagaattct	10	2	2	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:60996388G>A	uc001jkk.3	+	3	715	c.449G>A	c.(448-450)TGG>TAG	p.W150*	PHYHIPL_uc001jkl.3_Nonsense_Mutation_p.W104*|PHYHIPL_uc001jkm.3_Nonsense_Mutation_p.W124*	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting	150	Fibronectin type-III.										0						GTGTCTGAATGGAGTGAAATT	0.373													A	60996388	G	A	60996388	4	1	98	1	0	0	0	0	0	1	0	0	11867	1357	47	4	491	4	PHYHIPL	10	60996388	Nonsense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	8245084	60996388	74538359	859	65189											
ANK3	288	broad.mit.edu	37	chr10	61868786	61868786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcatggagccccctctcGcgtccaccataaagctaacc	6	18	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:61868786G>A	uc001jky.2	-	27	3167	c.2975C>T	c.(2974-2976)GCG>GTG	p.A992V	ANK3_uc001jkw.2_Missense_Mutation_p.A126V|ANK3_uc009xpa.2_Missense_Mutation_p.A126V|ANK3_uc001jkx.2_Missense_Mutation_p.A170V|ANK3_uc010qih.1_Missense_Mutation_p.A993V|ANK3_uc001jkz.3_Missense_Mutation_p.A986V|ANK3_uc001jla.1_Missense_Mutation_p.A58V|ANK3_uc001jlb.1_Missense_Mutation_p.A510V	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	992	ZU5.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GCCCCCTCTCGCGTCCACCAT	0.507													A	61868786	G	A	61868786	3	1	98	1	0	0	0	0	1	0	0	0	622	1087	38	1	10539	1	ANK3	10	61868786	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	872398	61868786	73665961	860	65190											
JMJD1C	221037	broad.mit.edu	37	chr10	64974250	64974250	+	Frame_Shift_Del	DEL	T	T	-													acccagctctggtcagaatcTttttttgctgtttccaagaa							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:64974249_64974249CT>C	uc001jmn.3	-	7	1978	c.1678_1678AG>G	c.(1678-1680)gatfs	p.D560fs	JMJD1C_uc001jml.3_Frame_Shift_Del_p.D341fs|JMJD1C_uc001jmm.3_Frame_Shift_Del_p.D272fs|JMJD1C_uc010qiq.2_Frame_Shift_Del_p.D378fs|JMJD1C_uc009xpi.3_Frame_Shift_Del_p.D378fs|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Frame_Shift_Del_p.D272fs	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	560					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGGTCAGAATCTTTTTTTGCT	0.368													-	64974250	T	-	64974250	7	5	98	1	0	1	0	1	0	0	0	0	7950	1606	56	0	6021	0	JMJD1C	10	64974250	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	3105464	64974250	70560497	861	65191											
LRRTM3	347731	broad.mit.edu	37	chr10	68687080	68687080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagacctgtgacaaatttaCggaacttggatctgtcctat	8	9	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:68687080C>T	uc001jmz.1	+	2	956	c.406C>T	c.(406-408)CGG>TGG	p.R136W	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.R136W	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	136	Extracellular (Potential).|LRR 4.					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						GACAAATTTACGGAACTTGGA	0.408													T	68687080	C	T	68687080	3	4	98	1	0	0	0	0	1	0	0	0	9041	527	19	1	412	1	LRRTM3	10	68687080	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3712830	68687080	66847667	862	65192											
H2AFY2	55506	broad.mit.edu	37	chr10	71851665	71851666	+	Frame_Shift_Ins	INS	-	-	G													aggccacgtcaggcaagaagINSggggggaagaaatccaaggc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:71851664_71851665A>AG	uc001jqm.3	+	3	890_891	c.431_432A>AG	c.(430-432)aagfs	p.K144fs		NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	Homo sapiens H2A histone family, member Y2 (H2AFY2), mRNA.	144	Lys-rich.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	p.K147fs*53(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						TCAGGCAAGAAGGGGGGGAAGA	0.594													G	71851666	-	G	71851665	7	5	98	1	0	1	1	0	0	0	0	0	6930	991	35	0	442	0	H2AFY2	10	71851665	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	3164585	71851665	63683082	863	65193											
ADAMTS14	140766	broad.mit.edu	37	chr10	72462141	72462141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccagcaggagaaggaggCcagcgggaggacacatgtgg	20	8	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:72462141C>T	uc001jrh.2	+	3	596	c.596C>T	c.(595-597)GCC>GTC	p.A199V	ADAMTS14_uc001jrg.2_Missense_Mutation_p.A199V	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	199					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						GAGAAGGAGGCCAGCGGGAGG	0.647													T	72462141	C	T	72462141	3	4	98	1	0	0	0	0	1	0	0	0	259	739	26	2	606	2	ADAMTS14	10	72462141	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	610476	72462141	63072606	864	65194											
CDH23	64072	broad.mit.edu	37	chr10	73270887	73270887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgccaggtgatcacacGgaaggtgaacatccaggttg	12	10	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:73270887G>A	uc001jrx.3	+	6	724	c.347G>A	c.(346-348)CGG>CAG	p.R116Q	CDH23_uc001jrw.3_Missense_Mutation_p.R116Q|CDH23_uc001jrv.2_Missense_Mutation_p.R111Q|CDH23_uc009xql.2_Missense_Mutation_p.R161Q	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	116	Cadherin 1.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GTGATCACACGGAAGGTGAAC	0.577													A	73270887	G	A	73270887	3	1	98	1	0	0	0	0	1	0	0	0	3108	1116	39	1	365	1	CDH23	10	73270887	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	808746	73270887	62263860	865	65195											
CDH23	64072	broad.mit.edu	37	chr10	73501453	73501453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgctctcctcccagaaCgtgggtggaggtactgctgt	12	13	1	1	rs111033490		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:73501453C>T	uc001jrx.3	+	36	4997	c.4620C>T	c.(4618-4620)AAC>AAT	p.N1540N	CDH23_uc001jsc.1_Silent_p.N347N	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1540	Cadherin 15.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CCTCCCAGAACGTGGGTGGAG	0.587													T	73501453	C	T	73501453	2	4	98	1	0	0	0	0	0	0	0	1	3108	535	19	1		1	CDH23	10	73501453	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	230566	73501453	62033294	866	65196											
PPP3CB	5532	broad.mit.edu	37	chr10	75255610	75255615	+	In_Frame_Del	DEL	GGGGGC	GGGGGC	-													ggggcggcgggggcgggggtGggggcggtgcagcccgggcc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:75255610_75255615delGGGGGC	uc001jue.2	-	1	168_173	c.33_38delGCCCCC	c.(31-39)CCGCCCCCA>CCA	p.11_13PPP>P	PPP3CB_uc001juf.2_In_Frame_Del_p.11_13PPP>P|PPP3CB_uc001jug.2_In_Frame_Del_p.11_13PPP>P|PPP3CB_uc001jui.2_In_Frame_Del_p.11_13PPP>P|PPP3CB_uc001juh.2_5'UTR|uc001juj.2_Intron	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	11_13	Catalytic.|Poly-Pro.									skin(1)	1	Prostate(51;0.0119)					gggcgggggtgggggcggTGCAGCCC	0.67													-	75255615	GGGGGC	-	75255610	7	5	98	1	0	1	0	1	0	0	0	0	12398	1348	47	0	1595	0	PPP3CB	10	75255610	In_Frame_Del	DEL	GGGGGC	TCGA-BR-8591-01A-11D-2394-08	1754157	75255610	60279137	867	65197											
SYNPO2L	79933	broad.mit.edu	37	chr10	75407024	75407024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatatttccaggaaggggGcagagacggggtaggagaag	18	4	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:75407024G>A	uc001jut.3	-	4	2538	c.2386C>T	c.(2386-2388)CCC>TCC	p.P796S	SYNPO2L_uc001jus.3_Missense_Mutation_p.P572S	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	796	Pro-rich.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)					CAGGAAGGGGGCAGAGACGGG	0.602													A	75407024	G	A	75407024	3	1	98	1	0	0	0	0	1	0	0	0	15455	1203	42	2	551	2	SYNPO2L	10	75407024	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	151414	75407024	60127723	868	65198											
KIAA0913	23053	broad.mit.edu	37	chr10	75558814	75558814	+	Frame_Shift_Del	DEL	G	G	-													tggaagaggcagctaagggtGggggcgtgtaccctgaagtg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:75558813_75558813TG>T	uc001jvj.3	+	20	4470	c.4215_4215TG>T	c.(4213-4215)ggtfs	p.G1405fs	KIAA0913_uc001jve.3_Frame_Shift_Del_p.G1410fs|KIAA0913_uc009xrl.3_Frame_Shift_Del_p.G1405fs|KIAA0913_uc001jvf.3_Splice_Site_p.V1405_splice|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Frame_Shift_Del_p.G840fs|KIAA0913_uc010qkr.2_Frame_Shift_Del_p.G828fs|KIAA0913_uc009xrn.2_5'Flank	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	1405							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					CAGCTAAGGGTGGGGGCGTGT	0.562													-	75558814	G	-	75558814	7	5	98	1	0	1	0	1	0	0	0	0	8200	1348	47	0	4313	0	KIAA0913	10	75558814	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	151790	75558814	59975933	869	65199											
SAMD8	142891	broad.mit.edu	37	chr10	76910362	76910363	+	Frame_Shift_Ins	INS	-	-	T													gtggctgaaggatgaaggctINStttttgaatatgtggacatt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:76910361_76910362C>CT	uc001jwx.2	+	1	178_179	c.75_76C>CT	c.(73-78)ggctttfs	p.G25fs	SAMD8_uc001jwy.2_Frame_Shift_Ins_p.G25fs	NM_001174156	NP_001167627	Q96LT4	SAMD8_HUMAN	Homo sapiens sterile alpha motif domain containing 8 (SAMD8), transcript variant 1, mRNA.	25	SAM.				sphingomyelin biosynthetic process	integral to membrane				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AGGATGAAGGCTTTTTTGAATA	0.46													T	76910363	-	T	76910362	7	5	98	1	0	1	1	0	0	0	0	0	13825	1609	56	0	78	0	SAMD8	10	76910362	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	1351548	76910362	58624385	870	65200											
ZNF503	84858	broad.mit.edu	37	chr10	77158837	77158837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtatgggtccgcaagtgGctcagcagctcttcggacgt	14	12	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:77158837G>A	uc001jxg.2	-	2	1947	c.1611C>T	c.(1609-1611)AGC>AGT	p.S537S	C10orf41_uc010qlf.1_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	zinc finger protein 503	537	C2H2-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					TCCGCAAGTGGCTCAGCAGCT	0.647													A	77158837	G	A	77158837	2	1	98	1	0	0	0	0	0	0	0	1	17948	1194	42	2		2	ZNF503	10	77158837	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	248475	77158837	58375910	871	65201											
KCNMA1	3778	broad.mit.edu	37	chr10	78647039	78647039	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatatcaaagccgctcttcCtgcacgtacttctgtttgtc	6	13	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:78647039C>A	uc001jxn.2	-	28	3873	c.3696G>T	c.(3694-3696)CAG>CAT	p.Q1232H	KCNMA1_uc001jxj.2_Intron|KCNMA1_uc001jxk.1_Intron|KCNMA1_uc009xrt.1_Intron|KCNMA1_uc001jxl.1_Missense_Mutation_p.Q857H|KCNMA1_uc001jxo.2_Missense_Mutation_p.Q1215H|KCNMA1_uc001jxm.2_Missense_Mutation_p.Q1174H|KCNMA1_uc001jxq.2_Missense_Mutation_p.Q1204H|uc001jxp.2_5'Flank	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1232	Cytoplasmic (Potential).			YVQEERL -> KEMVYR (in Ref. 3; CAI39730/ CAI40870/CAI14074/CAI16162).	cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GCCGCTCTTCCTGCACGTACT	0.517													A	78647039	C	A	78647039	3	1	98	1	0	0	0	0	1	0	0	0	8073	680	24	5	47	5	KCNMA1	10	78647039	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1488202	78647039	56887708	872	65202											
MAT1A	4143	broad.mit.edu	37	chr10	82049113	82049113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtccctctcccacagactCcgatgtgaacatgaagactc	8	14	1	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:82049113C>T	uc001kbw.2	-	1	322	c.67G>A	c.(67-69)GAG>AAG	p.E23K		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	23					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CCCACAGACTCCGATGTGAAC	0.488													T	82049113	C	T	82049113	3	4	98	1	0	0	0	0	1	0	0	0	9329	864	30	4	1156	4	MAT1A	10	82049113	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3402074	82049113	53485634	873	65203											
PTEN	5728	broad.mit.edu	37	chr10	89717719	89717720	+	Frame_Shift_Del	DEL	TG	TG	-													gagttccctcagccgttaccTgtgtgtggtgatatcaaagt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:89717718_89717719CTG>C	uc001kfb.3	+	6	1775_1776	c.743_744CTG>C	c.(742-744)cctfs	p.P248fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	248	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.P248fs*5(17)|p.P248?(8)|p.R55fs*1(5)|p.L247*(3)|p.P248fs*4(2)|p.P248H(2)|p.L247fs*10(2)|p.N212fs*1(2)|p.L247fs*4(2)|p.Y27fs*1(2)|p.C250fs*2(1)|p.V249fs*4(1)|p.L247F(1)|p.L247L(1)|p.L247fs*11(1)|p.L247fs*12(1)|p.?(1)|p.P246_L247insGP(1)|p.L247fs*6(1)|p.L247fs*5(1)|p.G165_K342del(1)|p.L247fs*8(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGCCGTTACCTGTGTGTGGTG	0.406		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89717720	TG	-	89717719	7	5	98	1	0	1	0	1	0	0	0	0	12738	1567	55	0	770	0	PTEN	10	89717719	Frame_Shift_Del	DEL	TG	TCGA-BR-8591-01A-11D-2394-08	7668606	89717719	45817028	874	65204											
PTEN	5728	broad.mit.edu	37	chr10	89717770	89717770	+	Frame_Shift_Del	DEL	A	A	-													cacaaacagaacaagatgctAaaaaaggtttgtactttact					rs121913289		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:89717769_89717769TA>T	uc001kfb.3	+	6	1826	c.794_794TA>T	c.(793-795)ctafs	p.L265fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	265	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.M264fs*8(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.D268fs*30(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AACAAGATGCTAAAAAAGGTT	0.348		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89717770	A	-	89717770	7	5	98	1	0	1	0	1	0	0	0	0	12738	349	13	0	821	0	PTEN	10	89717770	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	51	89717770	45816977	875	65205											
PLCE1	51196	broad.mit.edu	37	chr10	95891942	95891942	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattcacagatctacaatgcAgtgagaagagaagaaacaga	9	6	2	5			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:95891942A>G	uc001kjk.2	+	3	1852	c.1218A>G	c.(1216-1218)GCA>GCG	p.A406A	PLCE1_uc010qnx.1_Silent_p.A406A|PLCE1_uc001kjm.2_Silent_p.A98A	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	406					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				TCTACAATGCAGTGAGAAGAG	0.403													G	95891942	A	G	95891942	2	3	98	1	0	0	0	0	0	0	0	1	12034	175	7	3		3	PLCE1	10	95891942	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	6174172	95891942	39642805	876	65206											
PLCE1	51196	broad.mit.edu	37	chr10	96006283	96006283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctaaaatgctcttcagcGgattattggaactcactaga	8	9	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:96006283G>A	uc001kjk.2	+	8	3635	c.3001G>A	c.(3001-3003)GGA>AGA	p.G1001R	PLCE1_uc010qnx.1_Missense_Mutation_p.G1001R|PLCE1_uc001kjm.2_Missense_Mutation_p.G693R	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1001					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				GCTCTTCAGCGGATTATTGGA	0.473													A	96006283	G	A	96006283	3	1	98	1	0	0	0	0	1	0	0	0	12034	1117	39	1	3313	1	PLCE1	10	96006283	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	114341	96006283	39528464	877	65207											
PLCE1	51196	broad.mit.edu	37	chr10	96039636	96039636	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggaagatgaggaggacgAatatgattatgactatgaat	13	2	0	6			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:96039636A>G	uc001kjk.2	+	20	5397	c.4763A>G	c.(4762-4764)GAA>GGA	p.E1588G	PLCE1_uc010qnx.1_Missense_Mutation_p.E1572G|PLCE1_uc001kjm.2_Missense_Mutation_p.E1280G|uc001kjo.1_RNA	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1588					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				GAGGAGGACGAATATGATTAT	0.433											OREG0020383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	96039636	A	G	96039636	3	3	98	1	0	0	0	0	1	0	0	0	12034	246	9	3	5123	3	PLCE1	10	96039636	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	33353	96039636	39495111	878	65208											
TM9SF3	56889	broad.mit.edu	37	chr10	98336475	98336476	+	Frame_Shift_Ins	INS	-	-	T													tcatggtaatgactgatactINStttttttgaccccacacaga							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:98336474_98336475C>CT	uc001kmm.4	-	1	431_432	c.214_215G>AG	c.(214-216)agtfs	p.S72fs		NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	Homo sapiens transmembrane 9 superfamily member 3 (TM9SF3), mRNA.	72						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		ATGACTGATACTTTTTTTTGAC	0.361													T	98336476	-	T	98336475	7	5	98	1	0	1	1	0	0	0	0	0	15976	1609	56	0	1611	0	TM9SF3	10	98336475	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	2296839	98336475	37198272	879	65209											
PIK3AP1	118788	broad.mit.edu	37	chr10	98412547	98412547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaaactctgcttctgtcGccaccctgtcatccagctta	7	14	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:98412547G>A	uc001kmq.2	-	4	748	c.620C>T	c.(619-621)GCG>GTG	p.A207V	PIK3AP1_uc001kmp.2_Missense_Mutation_p.A29V	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	207	DBB.					cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TGCTTCTGTCGCCACCCTGTC	0.507													A	98412547	G	A	98412547	3	1	98	1	0	0	0	0	1	0	0	0	11908	1087	38	1	1853	1	PIK3AP1	10	98412547	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	76072	98412547	37122200	880	65210											
RRP12	23223	broad.mit.edu	37	chr10	99130320	99130320	+	Splice_Site	DEL	G	G	-													cttggtgcacaggatcacctGgccaagacaactccatcagc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:99130319_99130319TG>T	uc001knf.3	-	23	2723	c.2584_splice	c.e23-1	p.V862_splice	RRP12_uc009xvl.3_Splice_Site|RRP12_uc009xvm.3_Splice_Site_p.V580_splice|RRP12_uc010qou.2_Splice_Site_p.V801_splice|RRP12_uc009xvn.3_Splice_Site_p.V762_splice	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	862						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CAGGATCACCTGGCCAAGACA	0.597													-	99130320	G	-	99130320	8	5	98	1	0	1	0	1	0	0	1	0	13686	1363	47	0		0	RRP12	10	99130320	Splice_Site	DEL	G	TCGA-BR-8591-01A-11D-2394-08	717773	99130320	36404427	881	65211											
LZTS2	84445	broad.mit.edu	37	chr10	102763509	102763509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccatcagggacgctatcCgactctggccgaaactcact	9	15	3	0	rs78785945	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:102763509C>T	uc001ksj.2	+	3	723	c.654C>T	c.(652-654)TCC>TCT	p.S218S	LZTS2_uc010qpw.1_Silent_p.S218S|LZTS2_uc001ksk.2_Silent_p.S218S|LZTS2_uc001ksl.2_Silent_p.S218S|LZTS2_uc001ksm.2_RNA	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	218	Ser-rich.|Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				ovary(2)|large_intestine(1)|breast(1)	4				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGACGCTATCCGACTCTGGCC	0.552													T	102763509	C	T	102763509	2	4	98	1	0	0	0	0	0	0	0	1	9139	639	23	1		1	LZTS2	10	102763509	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3633189	102763509	32771238	882	65212											
PSD	5662	broad.mit.edu	37	chr10	104174959	104174960	+	Frame_Shift_Ins	INS	-	-	G													gcccaccccaggtggagatgINSggggggcctgctctgggggc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:104174958_104174959T>TG	uc001kvg.1	-	3	1312_1313	c.785_786A>CA	c.(784-786)ccafs	p.P262fs	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Frame_Shift_Ins_p.P262fs	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	262					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	p.S48fs*38(1)|p.S263fs*38(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CAGGTGGAGATGGGGGGGCCTG	0.624													G	104174960	-	G	104174959	7	5	98	1	0	1	1	0	0	0	0	0	12646	1348	47	0	2345	0	PSD	10	104174959	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	1411450	104174959	31359788	883	65213											
NEURL	9148	broad.mit.edu	37	chr10	105344877	105344877	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgacggcgagctgcacctcAgccacaatggcgcggccgcc	13	18	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:105344877A>G	uc001kxh.2	+	4	1644	c.1234A>G	c.(1234-1236)AGC>GGC	p.S412G		NM_004210	NP_004201	O76050	NEU1A_HUMAN	neuralized-like	412	NHR 2.				nervous system development	perinuclear region of cytoplasm	zinc ion binding				0				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GCTGCACCTCAGCCACAATGG	0.697													G	105344877	A	G	105344877	3	3	98	1	0	0	0	0	1	0	0	0	10345	188	7	3	1248	3	NEURL	10	105344877	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1169918	105344877	30189870	884	65214											
DCLRE1A	9937	broad.mit.edu	37	chr10	115608957	115608957	+	Frame_Shift_Del	DEL	T	T	-													aatttgactttctacatctcTttttttgacgctgtgacctc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:115608956_115608956CT>C	uc001law.2	-	1	2826	c.1908_1908AG>G	c.(1906-1908)aagfs	p.K636fs		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	Homo sapiens DNA cross-link repair 1A (DCLRE1A), mRNA.	636					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TTCTACATCTCTTTTTTTGAC	0.363								Other identified genes with known or suspected DNA repair function					-	115608957	T	-	115608957	7	5	98	1	0	1	0	1	0	0	0	0	4294	1609	56	0	1247	0	DCLRE1A	10	115608957	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	10264080	115608957	19925790	885	65215											
ADRB1	153	broad.mit.edu	37	chr10	115804702	115804702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttcctcggcggcccagcgCggccgccctcgccctcgccc	12	22	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:115804702C>T	uc001lba.2	+	1	897	c.811C>T	c.(811-813)CGG>TGG	p.R271W		NM_000684	NP_000675	P08588	ADRB1_HUMAN	beta-1-adrenergic receptor	271	Cytoplasmic (By similarity).				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	CGGCCCAGCGCGGccgccctc	0.408													T	115804702	C	T	115804702	3	4	98	1	0	0	0	0	1	0	0	0	340	759	27	1	813	1	ADRB1	10	115804702	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	195745	115804702	19730045	886	65216											
TRUB1	142940	broad.mit.edu	37	chr10	116730145	116730145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agataaaataacacaagaagAtattgaaggcattctacaga	7	5	1	5			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:116730145A>G	uc001lcd.2	+	5	603	c.542A>G	c.(541-543)GAT>GGT	p.D181G	TRUB1_uc010qsl.1_Missense_Mutation_p.D83G	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase homolog 1	181					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding				0		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		ACACAAGAAGATATTGAAGGC	0.328													G	116730145	A	G	116730145	3	3	98	1	0	0	0	0	1	0	0	0	16599	333	12	3	560	3	TRUB1	10	116730145	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	925443	116730145	18804602	887	65217											
VAX1	11023	broad.mit.edu	37	chr10	118896101	118896101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccgcggtgaaggacgtgCgcgtcctcttaggccggtcc	15	14	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:118896101C>T	uc009xyx.2	-	2	556	c.311G>A	c.(310-312)CGC>CAC	p.R104H	VAX1_uc001ldb.1_Missense_Mutation_p.R104H	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1 isoform a	104	Homeobox.					nucleus	sequence-specific DNA binding			ovary(2)	2				all cancers(201;0.0108)		GAAGGACGTGCGCGTCCTCTT	0.652													T	118896101	C	T	118896101	3	4	98	1	0	0	0	0	1	0	0	0	17131	768	27	1	841	1	VAX1	10	118896101	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2165956	118896101	16638646	888	65218											
EIF3A	8661	broad.mit.edu	37	chr10	120801864	120801864	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattacgccaggatgatcgCtcatcatcagcgcctcctcg	9	15	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:120801864C>T	uc001ldu.2	-	19	3314	c.3168G>A	c.(3166-3168)GAG>GAA	p.E1056E	EIF3A_uc010qsu.1_Silent_p.E1022E|EIF3A_uc009xzg.1_Silent_p.E95E	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	1056	14.|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)		AGGATGATCGCTCATCATCAG	0.612													T	120801864	C	T	120801864	2	4	98	1	0	0	0	0	0	0	0	1	5012	796	28	2		2	EIF3A	10	120801864	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1905763	120801864	14732883	889	65219											
INPP5F	22876	broad.mit.edu	37	chr10	121556339	121556340	+	Frame_Shift_Ins	INS	-	-	C													gagaaaagcagcccagagacINScccccctcaggagtccacct							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:121556338_121556339A>AC	uc001leo.3	+	6	997_998	c.781_782A>AC	c.(781-783)accfs	p.T261fs		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	261	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CAGCCCAGAGACCCCCCCTCAG	0.48													C	121556340	-	C	121556339	7	5	98	1	0	1	1	0	0	0	0	0	7758	507	18	0	808	0	INPP5F	10	121556339	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	754475	121556339	13978408	890	65220											
WDR11	55717	broad.mit.edu	37	chr10	122665505	122665505	+	Frame_Shift_Del	DEL	T	T	-													ttctcctctctctgggctgcTtttttagcgtggcagagacg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:122665504_122665504CT>C	uc021pzt.1	+	26	3654	c.3408_3408CT>C	c.(3406-3408)tgcfs	p.C1136fs	WDR11_uc010qte.2_Frame_Shift_Del_p.C738fs|WDR11_uc001lfd.1_Frame_Shift_Del_p.C654fs|AX747838_uc001lfe.1_5'Flank|WDR11_uc021pzu.1_5'Flank	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	1136						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CTCTGGGCTGCTTTTTTAGCG	0.527													-	122665505	T	-	122665505	7	5	98	1	0	1	0	1	0	0	0	0	17270	1609	56	0	3515	0	WDR11	10	122665505	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	1109166	122665505	12869242	891	65221											
ATE1	11101	broad.mit.edu	37	chr10	123683794	123683794	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctttaccttcgccatcctcGgtctatgagatcctgataat	7	12	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:123683794G>T	uc001lfp.2	-	2	239	c.157C>A	c.(157-159)CGA>AGA	p.R53R	ATE1_uc001lfq.2_Silent_p.R53R|ATE1_uc010qtr.1_5'UTR|ATE1_uc010qts.1_Intron|ATE1_uc010qtt.1_Silent_p.R46R|ATE1_uc001lfr.2_5'UTR|ATE1_uc009xzu.2_Intron	NM_007041	NP_008972	O95260	ATE1_HUMAN	arginyltransferase 1 isoform 2	53					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity				0		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CGCCATCCTCGGTCTATGAGA	0.408													T	123683794	G	T	123683794	2	4	98	1	0	0	0	0	0	0	0	1	1078	1124	39	5		5	ATE1	10	123683794	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1018289	123683794	11850953	892	65222											
CPXM2	119587	broad.mit.edu	37	chr10	125521573	125521573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgtcttccagggggacCgcaccaggtcgtaggggtac	15	13	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:125521573C>T	uc001lhk.1	-	11	1917	c.1592G>A	c.(1591-1593)CGG>CAG	p.R531Q	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	531					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCAGGGGGACCGCACCAGGTC	0.632													T	125521573	C	T	125521573	3	4	98	1	0	0	0	0	1	0	0	0	3838	652	23	1	694	1	CPXM2	10	125521573	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1837779	125521573	10013174	893	65223											
FAM175B	23172	broad.mit.edu	37	chr10	126495401	126495401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctttaattacttttaggAaggatttttactgggagagg	10	3	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:126495401A>G	uc001lib.3	+	2	119	c.74A>G	c.(73-75)GAA>GGA	p.E25G		NM_032182	NP_115558	Q15018	F175B_HUMAN	hypothetical protein LOC23172	25	MPN-like.					BRISC complex	polyubiquitin binding				0						TACTTTTAGGAAGGATTTTTA	0.289													G	126495401	A	G	126495401	3	3	98	1	0	0	0	0	1	0	0	0	5498	260	9	3	80	3	FAM175B	10	126495401	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	973828	126495401	9039346	894	65224											
UROS	7390	broad.mit.edu	37	chr10	127483521	127483521	+	Frame_Shift_Del	DEL	A	A	-													tatgtgaggccagagggactAaaaaatgtgatgctggctgg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:127483520_127483520TA>T	uc001liw.4	-	7	722	c.589_589TA>A	c.(589-591)agtfs	p.S197fs	UROS_uc001lix.4_Frame_Shift_Del_p.S197fs	NM_000375	NP_000366	P10746	HEM4_HUMAN	Homo sapiens uroporphyrinogen III synthase (UROS), mRNA.	197					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity	p.F196fs*44(1)		endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				CCAGAGGGACTAAAAAATGTG	0.448													-	127483521	A	-	127483521	7	5	98	1	0	1	0	1	0	0	0	0	17027	359	13	0	217	0	UROS	10	127483521	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	988120	127483521	8051226	895	65225											
MKI67	4288	broad.mit.edu	37	chr10	129905447	129905447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactggagttcccataaatgCgtagatgtttttctcaccac	7	11	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:129905447C>T	uc001lke.2	-	13	4852	c.4657G>A	c.(4657-4659)GCA>ACA	p.A1553T	MKI67_uc001lkf.2_Missense_Mutation_p.A1193T|MKI67_uc009yav.1_Missense_Mutation_p.A1128T|MKI67_uc009yaw.1_Missense_Mutation_p.A703T	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1553	5.|16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCCATAAATGCGTAGATGTTT	0.483													T	129905447	C	T	129905447	3	4	98	1	0	0	0	0	1	0	0	0	9598	768	27	1	5125	1	MKI67	10	129905447	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2421926	129905447	5629300	896	65226											
EBF3	253738	broad.mit.edu	37	chr10	131761786	131761786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccgcgccagccccacgcCgctgcgggaggaaagagaca	14	17	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:131761786C>T	uc001lki.1	-	2	195	c.136G>A	c.(136-138)GGC>AGC	p.G46S	EBF3_uc010qur.1_Missense_Mutation_p.G32S	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	46					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		AGCCCCACGCCGCTGCGGGAG	0.438													T	131761786	C	T	131761786	3	4	98	1	0	0	0	0	1	0	0	0	4882	666	23	1	1579	1	EBF3	10	131761786	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1856339	131761786	3772961	897	65227											
PWWP2B	170394	broad.mit.edu	37	chr10	134218325	134218325	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacccccgcccctcgtgccGccgctgcccgccggaagcct	10	24	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:134218325G>A	uc001lll.3	+	2	350	c.321G>A	c.(319-321)CCG>CCA	p.P107P	PWWP2B_uc009ybe.2_Silent_p.P107P	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2 isoform 1	107	Pro-rich.										0		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCTCGTGCCGCCGCTGCCCG	0.736													A	134218325	G	A	134218325	2	1	98	1	0	0	0	0	0	0	0	1	12846	1074	38	1		1	PWWP2B	10	134218325	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2456539	134218325	1316422	898	65228											
ATHL1	80162	broad.mit.edu	37	chr11	294564	294564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctccctgcaggacacaagGtctcctttccccgctcggct	8	18	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:294564G>A	uc010qvu.1	+	14	2144	c.2029G>A	c.(2029-2031)GTC>ATC	p.V677I	ATHL1_uc001lor.3_Missense_Mutation_p.V429I|ATHL1_uc001lou.3_Missense_Mutation_p.V252I|ATHL1_uc001lov.3_Missense_Mutation_p.V138I	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1	677					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(1)|skin(1)	3		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGACACAAGGTCTCCTTTCC	0.622													A	294564	G	A	294564	3	1	98	1	0	0	0	0	1	0	0	0	1104	1261	44	4	2079	4	ATHL1	11	294564	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08		294564	134711952	899	65229											
ATHL1	80162	broad.mit.edu	37	chr11	294680	294680	+	Frame_Shift_Del	DEL	C	C	-													gttagggacccgctccagagCcccctctgggtcaccctggg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:294679_294679GC>G	uc010qvu.2	+	13	2259	c.2144_2144GC>G	c.(2143-2145)agcfs	p.S715fs	ATHL1_uc001lor.4_Frame_Shift_Del_p.S467fs|ATHL1_uc001lou.4_Frame_Shift_Del_p.S290fs|ATHL1_uc001lov.4_Frame_Shift_Del_p.S176fs	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	Homo sapiens ATH1, acid trehalase-like 1 (yeast) (ATHL1), mRNA.	715					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds	p.S538I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCGCTCCAGAGCCCCCTCTGG	0.592													-	294680	C	-	294680	7	5	98	1	0	1	0	1	0	0	0	0	1104	738	26	0	2195	0	ATHL1	11	294680	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	116	294680	134711836	900	65230											
B4GALNT4	338707	broad.mit.edu	37	chr11	377213	377213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggacttcgagctgctgcGctcggactggaacgacctgc	14	13	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:377213G>A	uc001lpb.2	+	14	2099	c.2090G>A	c.(2089-2091)CGC>CAC	p.R697H		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	697	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGCTGCTGCGCTCGGACTGG	0.697													A	377213	G	A	377213	3	1	98	1	0	0	0	0	1	0	0	0	1269	1087	38	1	2144	1	B4GALNT4	11	377213	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	82533	377213	134629303	901	65231											
RNH1	6050	broad.mit.edu	37	chr11	498027	498027	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggcacagctcccgcacGcccgcatcctccagcctgtt	8	21	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:498027G>A	uc001lpk.1	-	7	2479	c.1071C>T	c.(1069-1071)GGC>GGT	p.G357G	RNH1_uc001lpl.1_Silent_p.G357G|RNH1_uc001lpm.1_Silent_p.G357G|RNH1_uc001lpn.1_Silent_p.G357G|RNH1_uc001lpo.1_Silent_p.G357G|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Silent_p.G357G|RNH1_uc001lpt.1_Silent_p.G114G|RNH1_uc001lpq.1_Silent_p.G357G|RNH1_uc001lpr.1_Silent_p.G357G|RNH1_uc001lps.1_Silent_p.G357G	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	357	LRR 12.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTCCCGCACGCCCGCATCCT	0.607													A	498027	G	A	498027	2	1	98	1	0	0	0	0	0	0	0	1	13504	1074	38	1		1	RNH1	11	498027	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	120814	498027	134508489	902	65232											
MUC6	4588	broad.mit.edu	37	chr11	1016412	1016414	+	In_Frame_Del	DEL	GAG	GAG	-													cagaaggactgggagaaaatGaggaggacagctgattagtt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:1016412_1016414delGAG	uc001lsw.2	-	31	6438_6440	c.6387_6389delCTC	c.(6385-6390)TCCTCA>TCA	p.2129_2130SS>S		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	2129_2130	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGAGAAAATGAGGAGGACAGCT	0.522													-	1016414	GAG	-	1016412	7	5	98	1	0	1	0	1	0	0	0	0	9980	1294	45	0	942	0	MUC6	11	1016412	In_Frame_Del	DEL	GAG	TCGA-BR-8591-01A-11D-2394-08	518385	1016412	133990104	903	65233											
MUC6	4588	broad.mit.edu	37	chr11	1025844	1025844	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgtgagcatgtgaccccGgagttcccacagatgacgtt	12	13	0	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:1025844G>A	uc001lsw.2	-	22	2811	c.2760C>T	c.(2758-2760)TCC>TCT	p.S920S		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	920	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGTGACCCCGGAGTTCCCAC	0.642													A	1025844	G	A	1025844	2	1	98	1	0	0	0	0	0	0	0	1	9980	1103	39	1		1	MUC6	11	1025844	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	9432	1025844	133980672	904	65234											
MUC2	4583	broad.mit.edu	37	chr11	1094755	1094755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagtgcctggaccccaaCgccgaccccactctccacac	6	22	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:1094755C>T	uc001lsx.1	+	34	12956	c.12929C>T	c.(12928-12930)ACG>ATG	p.T4310M		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4310						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGGACCCCAACGCCGACCCCA	0.632													T	1094755	C	T	1094755	3	4	98	1	0	0	0	0	1	0	0	0	9975	536	19	1	5957	1	MUC2	11	1094755	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	68911	1094755	133911761	905	65235											
SYT8	90019	broad.mit.edu	37	chr11	1858494	1858494	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcccgtaggcaaggtgcacCtgggtgcccgggcctcgggg	18	13	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:1858494C>A	uc001lue.1	+	9	1167	c.1039C>A	c.(1039-1041)CTG>ATG	p.L347M	SYT8_uc001lud.2_Missense_Mutation_p.L347M|SYT8_uc001luf.1_Missense_Mutation_p.L333M|TNNI2_uc010qxc.1_5'Flank|TNNI2_uc010qxd.1_5'Flank|TNNI2_uc010qxe.1_5'Flank	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	347	Cytoplasmic (Potential).					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			ovary(1)	1		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAAGGTGCACCTGGGTGCCCG	0.711													A	1858494	C	A	1858494	3	1	98	1	0	0	0	0	1	0	0	0	15477	680	24	5	1073	5	SYT8	11	1858494	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	763739	1858494	133148022	906	65236											
NUP98	4928	broad.mit.edu	37	chr11	3697576	3697576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcagactcagcaccacgCgcagcaggttggctacacgt	12	13	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:3697576C>T	uc001lyh.2	-	33	5507	c.5216G>A	c.(5215-5217)CGC>CAC	p.R1739H	NUP98_uc001lyi.2_Missense_Mutation_p.R1665H|NUP98_uc001lyg.2_Missense_Mutation_p.R704H	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1756					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CAGCACCACGCGCAGCAGGTT	0.577			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								T	3697576	C	T	3697576	3	4	98	1	0	0	0	0	1	0	0	0	10773	768	27	1	190	1	NUP98	11	3697576	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1839082	3697576	131308940	907	65237											
STIM1	6786	broad.mit.edu	37	chr11	3877513	3877513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagagtcatggatgtatgcGtccgtcttgccctgtggctc	12	11	2	1	rs150529970		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:3877513G>A	uc001lyv.2	+	1	581	c.13G>A	c.(13-15)GTC>ATC	p.V5I	STIM1_uc009yef.2_Missense_Mutation_p.V5I	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	5					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			pancreas(1)	1		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GGATGTATGCGTCCGTCTTGC	0.622													A	3877513	G	A	3877513	3	1	98	1	0	0	0	0	1	0	0	0	15282	1145	40	1	15	1	STIM1	11	3877513	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	179937	3877513	131129003	908	65238											
OR51L1	119682	broad.mit.edu	37	chr11	5020589	5020589	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggcctttgaccgttttgTtgctatctgccatccactgc	8	13	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:5020589T>C	uc010qyu.1	+	1	377	c.377T>C	c.(376-378)GTT>GCT	p.V126A		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACCGTTTTGTTGCTATCTGC	0.493													C	5020589	T	C	5020589	3	2	98	1	0	0	0	0	1	0	0	0	11102	1725	60	3	379	3	OR51L1	11	5020589	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1143076	5020589	129985927	909	65239											
OR52J3	119679	broad.mit.edu	37	chr11	5068683	5068683	+	Frame_Shift_Del	DEL	A	A	-													gagtgctctatgtttttactAaaaaataagactcttaccat							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:5068682_5068682TA>T	uc010qyv.2	+	0	927	c.927_927TA>T	c.(925-927)actfs	p.T309fs		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTTTTTACTAAAAAATAAG	0.378													-	5068683	A	-	5068683	7	5	98	1	0	1	0	1	0	0	0	0	11122	377	13	0	930	0	OR52J3	11	5068683	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	48094	5068683	129937833	910	65240											
OR51B6	390058	broad.mit.edu	37	chr11	5373560	5373560	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgttcacatcacaatgAgctacatccacttccttttc	4	13	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:5373560A>T	uc010qzb.1	+	1	823	c.823A>T	c.(823-825)AGC>TGC	p.S275C	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B,	275	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCACAATGAGCTACATCCA	0.393													T	5373560	A	T	5373560	3	4	98	1	0	0	0	0	1	0	0	0	11092	304	11	5	825	5	OR51B6	11	5373560	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	304877	5373560	129632956	911	65241											
OR56B1	387748	broad.mit.edu	37	chr11	5758619	5758620	+	Frame_Shift_Ins	INS	-	-	C													atgtgttgcacaacatcatcINScccccttccctcaaccctac							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:5758618_5758619T>TC	uc001mbt.2	+	0	941_942	c.872_873T>TC	c.(871-873)atcfs	p.I291fs	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		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)		CACAACATCATCCCCCCTTCCC	0.406													C	5758620	-	C	5758619	7	5	98	1	0	1	1	0	0	0	0	0	11137	845	30	0	875	0	OR56B1	11	5758619	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	385059	5758619	129247897	912	65242											
OR52N2	390077	broad.mit.edu	37	chr11	5841795	5841795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgatgtcaccttgtgcaCcaccatggtacctaatatgc	7	13	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:5841795C>T	uc010qzp.1	+	1	230	c.230C>T	c.(229-231)ACC>ATC	p.T77I	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N,	77	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTTGTGCACCACCATGGTA	0.517													T	5841795	C	T	5841795	3	4	98	1	0	0	0	0	1	0	0	0	11128	507	18	4	232	4	OR52N2	11	5841795	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	83176	5841795	129164721	913	65243											
OR52N2	390077	broad.mit.edu	37	chr11	5841886	5841886	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccagatgttttttgtccaTatgctgacagggatggagtc	12	8	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:5841886T>C	uc010qzp.1	+	1	321	c.321T>C	c.(319-321)CAT>CAC	p.H107H	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N,	107	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTTTGTCCATATGCTGACAG	0.522													C	5841886	T	C	5841886	2	2	98	1	0	0	0	0	0	0	0	1	11128	1403	49	3		3	OR52N2	11	5841886	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	91	5841886	129164630	914	65244											
OR52E8	390079	broad.mit.edu	37	chr11	5878878	5878878	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctgggatacccagcagtaGgaatgaagaaggatggaact	13	8	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:5878878G>T	uc010qzr.1	-	1	55	c.55C>A	c.(55-57)CTA>ATA	p.L19I	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	19	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCAGCAGTAGGAATGAAGAA	0.448													T	5878878	G	T	5878878	3	4	98	1	0	0	0	0	1	0	0	0	11118	991	35	5	900	5	OR52E8	11	5878878	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	36992	5878878	129127638	915	65245											
CCKBR	887	broad.mit.edu	37	chr11	6291484	6291484	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactcatggtgccctacccCgtgtacactgtcgtgcaacc	8	16	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:6291484C>T	uc001mcp.2	+	3	763	c.570C>T	c.(568-570)CCC>CCT	p.P190P	CCKBR_uc001mcq.2_Silent_p.P118P|CCKBR_uc001mcr.2_Silent_p.P190P|CCKBR_uc001mcs.2_Silent_p.P190P|CCKBR_uc001mct.1_5'Flank	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	190	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TGCCCTACCCCGTGTACACTG	0.657													T	6291484	C	T	6291484	2	4	98	1	0	0	0	0	0	0	0	1	2881	639	23	1		1	CCKBR	11	6291484	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	412606	6291484	128715032	916	65246											
SMPD1	6609	broad.mit.edu	37	chr11	6413286	6413286	+	Frame_Shift_Del	DEL	C	C	-													cacctgtcaatagcttccctCcccccttcattgagggcaac							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:6413285_6413285TC>T	uc001mcw.3	+	1	1175	c.990_990TC>T	c.(988-990)cctfs	p.P330fs	SMPD1_uc021qcz.1_Frame_Shift_Del_p.P330fs|SMPD1_uc001mcv.2_Intron|SMPD1_uc009yew.3_Frame_Shift_Del_p.P329fs|SMPD1_uc021qda.1_Non-coding_Transcript|SMPD1_uc009yex.3_Non-coding_Transcript	NM_000543	NP_000534	P17405	ASM_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA.	328			P -> R (in NPDB).		cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	ATAGCTTCCCTCCCCCCTTCA	0.612													-	6413286	C	-	6413286	7	5	98	1	0	1	0	1	0	0	0	0	14804	855	30	0	997	0	SMPD1	11	6413286	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	121802	6413286	128593230	917	65247											
DNHD1	144132	broad.mit.edu	37	chr11	6592577	6592577	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcccagctcgaatttccCtggtagccgaggctcggtct	12	13	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:6592577C>A	uc001mdw.3	+	42	14399	c.13835C>A	c.(13834-13836)CCT>CAT	p.P4612H	DNHD1_uc001mea.3_Missense_Mutation_p.P881H|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.P880H|DNHD1_uc010rao.1_Missense_Mutation_p.P870H|DNHD1_uc009yfg.2_Missense_Mutation_p.P237H	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	4612					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCGAATTTCCCTGGTAGCCGA	0.617													A	6592577	C	A	6592577	3	1	98	1	0	0	0	0	1	0	0	0	4668	681	24	5	14002	5	DNHD1	11	6592577	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	179291	6592577	128413939	918	65248											
SCUBE2	57758	broad.mit.edu	37	chr11	9051502	9051503	+	Frame_Shift_Ins	INS	-	-	T													tgggcaagaaacacaattatINStttttccaaattcaggctgg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:9051501_9051502A>AT	uc001mhi.2	-	17	2336_2337	c.2261_2262T>AT	c.(2260-2262)aatfs	p.N754fs	SCUBE2_uc021qdk.1_Frame_Shift_Ins_p.N230fs|SCUBE2_uc001mhj.2_Frame_Shift_Ins_p.N656fs	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	782						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		AAACACAATTATTTTTTCCAAA	0.431													T	9051503	-	T	9051502	7	5	98	1	0	1	1	0	0	0	0	0	13945	1493	52	0	674	0	SCUBE2	11	9051502	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	2458925	9051502	125955014	919	65249											
WEE1	7465	broad.mit.edu	37	chr11	9598763	9598763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagttcgatatttctctgCgtgggcagaagatgatcata	11	6	2	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:9598763C>T	uc001mhs.2	+	5	1347	c.1094C>T	c.(1093-1095)GCG>GTG	p.A365V	WEE1_uc001mht.2_Missense_Mutation_p.A151V|WEE1_uc001mhu.2_Missense_Mutation_p.A151V	NM_003390	NP_003381	P30291	WEE1_HUMAN	WEE1 tyrosine kinase isoform 1	365	Protein kinase.				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	5				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TATTTCTCTGCGTGGGCAGAA	0.373													T	9598763	C	T	9598763	3	4	98	1	0	0	0	0	1	0	0	0	17341	768	27	1	1112	1	WEE1	11	9598763	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	547261	9598763	125407753	920	65250											
CTR9	9646	broad.mit.edu	37	chr11	10794800	10794800	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcaacaaaagagaagaaaAgaggtggtggtggtggacgg	17	3	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:10794800A>G	uc001mja.2	+	21	2856	c.2707A>G	c.(2707-2709)AGA>GGA	p.R903G		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	903	Lys-rich.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGAGAAGAAAAGAGGTGGTGG	0.403													G	10794800	A	G	10794800	3	3	98	1	0	0	0	0	1	0	0	0	4024	64	3	3	2789	3	CTR9	11	10794800	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1196037	10794800	124211716	921	65251											
DKK3	27122	broad.mit.edu	37	chr11	12029928	12029928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacccacctcttccaccgCgctgcgcaatttgtgctgcg	9	18	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:12029928C>T	uc001mju.2	-	1	259	c.202G>A	c.(202-204)GCG>ACG	p.A68T	DKK3_uc010rcf.1_Missense_Mutation_p.A68T|DKK3_uc001mjv.2_Missense_Mutation_p.A68T|DKK3_uc001mjw.2_Missense_Mutation_p.A68T|DKK3_uc010rcg.1_Missense_Mutation_p.A68T|DKK3_uc001mjx.2_Missense_Mutation_p.A68T	NM_001018057	NP_001018067	Q9UBP4	DKK3_HUMAN	dickkopf homolog 3 precursor	68	Potential.				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(1)	1				Epithelial(150;0.000502)		TCTTCCACCGCGCTGCGCAAT	0.667													T	12029928	C	T	12029928	3	4	98	1	0	0	0	0	1	0	0	0	4546	768	27	1	878	1	DKK3	11	12029928	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1235128	12029928	122976588	922	65252											
SPON1	10418	broad.mit.edu	37	chr11	14284280	14284280	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgactgtgagctcaccgaGtggtcccagtggtcggaatg	14	9	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:14284280G>T	uc001mle.2	+	16	2557	c.2019G>T	c.(2017-2019)GAG>GAT	p.E673D		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	673	TSP type-1 5.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)		AGCTCACCGAGTGGTCCCAGT	0.478													T	14284280	G	T	14284280	3	4	98	1	0	0	0	0	1	0	0	0	15081	1020	36	5	2076	5	SPON1	11	14284280	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2254352	14284280	120722236	923	65253											
SOX6	55553	broad.mit.edu	37	chr11	15994374	15994374	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagttggcactgacagccTccggggcttcattttcactg	10	13	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:15994374T>G	uc001mme.2	-	16	2540	c.2507A>C	c.(2506-2508)GAG>GCG	p.E836A	SOX6_uc001mmd.2_Missense_Mutation_p.E799A|SOX6_uc001mmf.2_Missense_Mutation_p.E796A|SOX6_uc001mmg.2_Missense_Mutation_p.E803A	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	823					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						ACTGACAGCCTCCGGGGCTTC	0.433													G	15994374	T	G	15994374	3	3	98	1	0	0	0	0	1	0	0	0	14955	1551	54	5	22	5	SOX6	11	15994374	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1710094	15994374	119012142	924	65254											
PIK3C2A	5286	broad.mit.edu	37	chr11	17170280	17170280	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacatctacttgattcaagTcatcatgtacccagcaaagg	6	11	4	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:17170280T>C	uc001mmq.3	-	4	1448	c.1382A>G	c.(1381-1383)GAC>GGC	p.D461G	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.D81G|PIK3C2A_uc001mmr.3_RNA|PIK3C2A_uc010rcx.1_Missense_Mutation_p.D461G|PIK3C2A_uc009ygv.1_Missense_Mutation_p.D461G	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	461					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	TTGATTCAAGTCATCATGTAC	0.353													C	17170280	T	C	17170280	3	2	98	1	0	0	0	0	1	0	0	0	11909	1667	58	3	3794	3	PIK3C2A	11	17170280	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1175906	17170280	117836236	925	65255											
NAV2	89797	broad.mit.edu	37	chr11	20129269	20129269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctcgagagtgtggttcaccGacttgtggaactattccatt	11	9	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:20129269G>A	uc001mpr.3	+	36	7271	c.6910G>A	c.(6910-6912)GAC>AAC	p.D2304N	NAV2_uc001mpp.2_Missense_Mutation_p.D2237N|NAV2_uc009yhx.2_Missense_Mutation_p.D1365N|NAV2_uc009yhz.2_Missense_Mutation_p.D946N|NAV2_uc001mpu.2_Missense_Mutation_p.D739N|NAV2_uc001mpv.2_Missense_Mutation_p.D63N	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	2360						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						GTGGTTCACCGACTTGTGGAA	0.552													A	20129269	G	A	20129269	3	1	98	1	0	0	0	0	1	0	0	0	10184	1058	37	1	7161	1	NAV2	11	20129269	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2958989	20129269	114877247	926	65256											
ANO5	203859	broad.mit.edu	37	chr11	22257743	22257743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagatgtccttttggcaTagaagatgggaagaaaaggt	12	5	1	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:22257743T>C	uc001mqi.2	+	8	1000	c.683T>C	c.(682-684)ATA>ACA	p.I228T	ANO5_uc001mqj.2_Missense_Mutation_p.I227T	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	228	Cytoplasmic (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						CCTTTTGGCATAGAAGATGGG	0.378													C	22257743	T	C	22257743	3	2	98	1	0	0	0	0	1	0	0	0	700	1406	49	3	713	3	ANO5	11	22257743	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	2128474	22257743	112748773	927	65257											
LUZP2	338645	broad.mit.edu	37	chr11	24927591	24927591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagctctgtggcattcacGcagaagaggtgagtaaattt	11	7	2	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:24927591G>A	uc001mqs.2	+	6	685	c.451G>A	c.(451-453)GCA>ACA	p.A151T	LUZP2_uc009yif.2_Missense_Mutation_p.A65T|LUZP2_uc009yig.2_Intron	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2 precursor	151	Potential.					extracellular region				ovary(1)|skin(1)	2						TGGCATTCACGCAGAAGAGGT	0.328													A	24927591	G	A	24927591	3	1	98	1	0	0	0	0	1	0	0	0	9087	1087	38	1	473	1	LUZP2	11	24927591	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2669848	24927591	110078925	928	65258											
METT5D1	196074	broad.mit.edu	37	chr11	28135070	28135070	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttacacagatctcaagatagAgattttgaaactatggctaa	7	6	1	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:28135070A>T	uc001msh.2	+	3	644	c.189A>T	c.(187-189)AGA>AGT	p.R63S	METT5D1_uc001msg.2_Missense_Mutation_p.R63S|METT5D1_uc001mse.2_Missense_Mutation_p.R63S|METT5D1_uc001msf.1_RNA	NM_001113528	NP_001107000	A6NJ78	MET15_HUMAN	methyltransferase 5 domain containing 1 isoform	63							methyltransferase activity				0						CTCAAGATAGAGATTTTGAAA	0.358													T	28135070	A	T	28135070	3	4	98	1	0	0	0	0	1	0	0	0	9492	301	11	5	191	5	METT5D1	11	28135070	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	3207479	28135070	106871446	929	65259											
SLC1A2	6506	broad.mit.edu	37	chr11	35287272	35287272	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcccagccccaaaagagtcAcccacaacattgactgaagt	6	14	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:35287272A>G	uc001mwd.2	-	10	2047	c.1455T>C	c.(1453-1455)GGT>GGC	p.G485G	SLC1A2_uc001mwe.2_Silent_p.G476G|SLC1A2_uc010rev.1_Silent_p.G485G	NM_004171	NP_004162	P43004	EAA2_HUMAN	excitatory amino acid transporter 2	485					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			ovary(2)|central_nervous_system(1)	3	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	CAAAAGAGTCACCCACAACAT	0.398													G	35287272	A	G	35287272	2	3	98	1	0	0	0	0	0	0	0	1	14432	146	6	3		3	SLC1A2	11	35287272	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	7152202	35287272	99719244	930	65260											
FJX1	24147	broad.mit.edu	37	chr11	35640853	35640853	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcggggcgcgcagtgggcGcaggtgcaggaggagctgcg	22	10	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:35640853G>A	uc001mwh.2	+	1	1119	c.669G>A	c.(667-669)GCG>GCA	p.A223A		NM_014344	NP_055159	Q86VR8	FJX1_HUMAN	four jointed box 1 precursor	223						extracellular space					0	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				CGCAGTGGGCGCAGGTGCAGG	0.736													A	35640853	G	A	35640853	2	1	98	1	0	0	0	0	0	0	0	1	5901	1074	38	1		1	FJX1	11	35640853	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	353581	35640853	99365663	931	65261											
ALKBH3	221120	broad.mit.edu	37	chr11	43923081	43923081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtggcaccctgtgctgCgcacactaaagaaccgcatt	10	13	0	1	rs137865466		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:43923081C>T	uc001mxs.2	+	8	918	c.475C>T	c.(475-477)CGC>TGC	p.R159C	ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_Missense_Mutation_p.R12C	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN	AlkB homolog 3	159					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)	CCCTGTGCTGCGCACACTAAA	0.493								Direct_reversal_of_damage					T	43923081	C	T	43923081	3	4	98	1	0	0	0	0	1	0	0	0	528	768	27	1	501	1	ALKBH3	11	43923081	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	8282228	43923081	91083435	932	65262											
CD82	3732	broad.mit.edu	37	chr11	44640247	44640247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgggcatcatcctcggcGtgggcgtgggtgtggccatc	16	12	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:44640247G>A	uc001myc.2	+	9	948	c.700G>A	c.(700-702)GTG>ATG	p.V234M	CD82_uc001myd.2_Missense_Mutation_p.V209M	NM_002231	NP_002222	P27701	CD82_HUMAN	CD82 antigen isoform 1	234	Helical; (Potential).					integral to plasma membrane	protein binding			ovary(1)	1						CATCCTCGGCGTGGGCGTGGG	0.627													A	44640247	G	A	44640247	3	1	98	1	0	0	0	0	1	0	0	0	3040	1145	40	1	726	1	CD82	11	44640247	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	717166	44640247	90366269	933	65263											
PHF21A	51317	broad.mit.edu	37	chr11	45991420	45991420	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggggggataaactgtggTactttgatgggctgaggagg	20	3	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:45991420T>C	uc001ncc.3	-	8	1269	c.645A>G	c.(643-645)GTA>GTG	p.V215V	PHF21A_uc001ncb.3_Silent_p.V216V|PHF21A_uc009ykx.2_Silent_p.V216V|PHF21A_uc001nce.2_Silent_p.V216V|PHF21A_uc001nca.1_5'UTR	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	BRAF35/HDAC2 complex isoform a	215					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						TAAACTGTGGTACTTTGATGG	0.418													C	45991420	T	C	45991420	2	2	98	1	0	0	0	0	0	0	0	1	11833	1625	57	3		3	PHF21A	11	45991420	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1351173	45991420	89015096	934	65264											
CHRM4	1132	broad.mit.edu	37	chr11	46407532	46407532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccaaaggtcactgctggGttggacaggaactggatgaa	15	7	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:46407532G>A	uc001nct.1	-	1	576	c.576C>T	c.(574-576)AAC>AAT	p.N192N		NM_000741	NP_000732	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	192	Extracellular (By similarity).				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity				0				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	TCACTGCTGGGTTGGACAGGA	0.587													A	46407532	G	A	46407532	2	1	98	1	0	0	0	0	0	0	0	1	3379	1252	44	4		4	CHRM4	11	46407532	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	416112	46407532	88598984	935	65265											
AGBL2	79841	broad.mit.edu	37	chr11	47689211	47689212	+	Frame_Shift_Ins	INS	-	-	T													cctagtctgaagtgacttctINStttttttcttcttaaacatc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:47689210_47689211C>CT	uc001ngg.3	-	15	2554_2555	c.2252_2253G>AG	c.(2251-2253)aagfs	p.K751fs	AGBL2_uc001ngf.3_Non-coding_Transcript|AGBL2_uc010rhq.1_Frame_Shift_Ins_p.K713fs	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	751					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	p.K751fs*19(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GAAGTGACTTCTTTTTTTTCTT	0.366													T	47689212	-	T	47689211	7	5	98	1	0	1	1	0	0	0	0	0	376	1609	56	0	472	0	AGBL2	11	47689211	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	1281679	47689211	87317305	936	65266											
NUP160	23279	broad.mit.edu	37	chr11	47827774	47827774	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaatccagtttggctcagaGgtgcctttggctgagagaag	13	8	2	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:47827774G>T	uc001ngm.2	-	20	2622	c.2537C>A	c.(2536-2538)CCT>CAT	p.P846H	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	846					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						TTGGCTCAGAGGTGCCTTTGG	0.373													T	47827774	G	T	47827774	3	4	98	1	0	0	0	0	1	0	0	0	10757	1000	35	5	1841	5	NUP160	11	47827774	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	138563	47827774	87178742	937	65267											
OR4C15	81309	broad.mit.edu	37	chr11	55322291	55322291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtgattgtcctcacagCcatggcctatgatcgttatg	12	9	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:55322291C>T	uc010rig.1	+	1	509	c.509C>T	c.(508-510)GCC>GTC	p.A170V		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	116	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GTCCTCACAGCCATGGCCTAT	0.493										HNSCC(20;0.049)			T	55322291	C	T	55322291	3	4	98	1	0	0	0	0	1	0	0	0	11048	739	26	2	511	2	OR4C15	11	55322291	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	7494517	55322291	79684225	938	65268											
OR5W2	390148	broad.mit.edu	37	chr11	55681359	55681359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtagagagagctttgaaccTcccctcagcagagtgtatct	10	10	2	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:55681359T>C	uc010rir.1	-	1	700	c.700A>G	c.(700-702)AGG>GGG	p.R234G		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	234	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GCTTTGAACCTCCCCTCAGCA	0.418													C	55681359	T	C	55681359	3	2	98	1	0	0	0	0	1	0	0	0	11185	1550	54	3	234	3	OR5W2	11	55681359	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	359068	55681359	79325157	939	65269											
OR5I1	10798	broad.mit.edu	37	chr11	55703686	55703687	+	Frame_Shift_Ins	INS	-	-	A													aaatgataggttgctaaggaINSaaaaatacatgggggtttga							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:55703685_55703686G>GA	uc010ris.2	-	0	191_192	c.191_192C>TC	c.(190-192)ttcfs	p.F64fs		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGTTGCTAAGGAAAAAATACAT	0.376													A	55703687	-	A	55703686	7	5	98	1	0	1	1	0	0	0	0	0	11164	246	9	0	756	0	OR5I1	11	55703686	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	22327	55703686	79302830	940	65270											
OR10AG1	282770	broad.mit.edu	37	chr11	55735082	55735082	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatgccaccatgatatcTttgttcctcagggtatatat	6	10	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:55735082T>A	uc010rit.1	-	1	858	c.858A>T	c.(856-858)AAA>AAT	p.K286N		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG,	286	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.0137)					CCATGATATCTTTGTTCCTCA	0.338													A	55735082	T	A	55735082	3	1	98	1	0	0	0	0	1	0	0	0	10897	1606	56	5	50	5	OR10AG1	11	55735082	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	31396	55735082	79271434	941	65271											
OR8I2	120586	broad.mit.edu	37	chr11	55861422	55861422	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttagctctctccttatcatCacagtcacttatatcatcat	2	13	6	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:55861422C>T	uc010rix.1	+	1	639	c.639C>T	c.(637-639)ATC>ATT	p.I213I		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	213	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					TCCTTATCATCACAGTCACTT	0.498													T	55861422	C	T	55861422	2	4	98	1	0	0	0	0	0	0	0	1	11240	816	29	4		4	OR8I2	11	55861422	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	126340	55861422	79145094	942	65272											
OR5M8	219484	broad.mit.edu	37	chr11	56258061	56258062	+	Frame_Shift_Ins	INS	-	-	G													gttcaacagattcctttgagINSgggggtctgagatacatgaa							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:56258060_56258061A>AG	uc001nix.1	-	0	786_787	c.786_787T>CT	c.(784-789)ccctcafs	p.P262fs	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GATTCCTTTGAGGGGGGTCTGA	0.396													G	56258062	-	G	56258061	7	5	98	1	0	1	1	0	0	0	0	0	11176	987	35	0	153	0	OR5M8	11	56258061	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	396639	56258061	78748455	943	65273											
SSRP1	6749	broad.mit.edu	37	chr11	57093935	57093937	+	In_Frame_Del	DEL	TTC	TTC	-													ctggggggagtactggctagTtcttcttcttcagagtcctg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:57093934_57093936GTTC>G	uc001njt.3	-	16	2342_2344	c.2075_2077GAAC>C	c.(2074-2079)gaacta>gCta	p.692_693EL>A	TNKS1BP1_uc001njs.3_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA.	692	Ser-rich.				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GTACTGGCTAGTTCTTCTTCTTC	0.552													-	57093937	TTC	-	57093935	7	5	98	1	0	1	0	1	0	0	0	0	15193	1722	60	0	57	0	SSRP1	11	57093935	In_Frame_Del	DEL	TTC	TCGA-BR-8591-01A-11D-2394-08	835874	57093935	77912581	944	65274											
SMTNL1	219537	broad.mit.edu	37	chr11	57310769	57310769	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggctgaacccaaggagccCgatgggaaagaggaggccaa	15	9	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:57310769C>T	uc009ymh.1	+	2	708	c.708C>T	c.(706-708)CCC>CCT	p.P236P		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	218										ovary(1)	1						CCAAGGAGCCCGATGGGAAAG	0.562													T	57310769	C	T	57310769	2	4	98	1	0	0	0	0	0	0	0	1	14815	639	23	1		1	SMTNL1	11	57310769	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	216834	57310769	77695747	945	65275											
ZFP91	80829	broad.mit.edu	37	chr11	58384785	58384787	+	In_Frame_Del	DEL	AGA	AGA	-													tatctgtggcaaaaaatttgAgaagaaggacagcgtagtgg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:58384784_58384786GAGA>G	uc001nmx.4	+	10	1486_1488	c.1318_1320GAGA>G	c.(1318-1320)gag>G	p.E440del	ZFP91_uc001nmy.4_In_Frame_Del_p.E439del|CNTF_uc010rkm.2_Non-coding_Transcript	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA.	440					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CAAAAAATTTGAGAAGAAGGACA	0.468													-	58384787	AGA	-	58384785	7	5	98	1	0	1	0	1	0	0	0	0	17652	304	11	0	1361	0	ZFP91	11	58384785	In_Frame_Del	DEL	AGA	TCGA-BR-8591-01A-11D-2394-08	1074016	58384785	76621731	946	65276											
DTX4	23220	broad.mit.edu	37	chr11	58949550	58949551	+	Frame_Shift_Ins	INS	-	-	C													ccctgggccagccacctcgcINScccccatgtccccctgctcc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:58949549_58949550G>GC	uc001nns.2	+	1	806_807	c.549_550G>GC	c.(547-552)tcgcccfs	p.S183fs	DTX4_uc001nnr.2_Frame_Shift_Ins_p.S77fs	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	Homo sapiens deltex homolog 4 (Drosophila) (DTX4), mRNA.	183					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CAGCCACCTCGCCCCCCATGTC	0.653													C	58949551	-	C	58949550	7	5	98	1	0	1	1	0	0	0	0	0	4797	739	26	0	556	0	DTX4	11	58949550	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	564765	58949550	76056966	947	65277											
PRPF19	27339	broad.mit.edu	37	chr11	60671329	60671330	+	Frame_Shift_Del	DEL	AG	AG	-													gggtgctccggcacttcgttAgagactgtagagaaaaggct							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:60671328_60671329TAG>T	uc001nqf.3	-	1	231_232	c.24_25CTA>A	c.(22-27)tctaacfs	p.S8fs		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	Homo sapiens PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae) (PRPF19), mRNA.	8	U-box.				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	p.S8S(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						GGCACTTCGTTAGAGACTGTAG	0.51													-	60671330	AG	-	60671329	7	5	98	1	0	1	0	1	0	0	0	0	12564	407	15	0	1550	0	PRPF19	11	60671329	Frame_Shift_Del	DEL	AG	TCGA-BR-8591-01A-11D-2394-08	1721779	60671329	74335187	948	65278											
TMEM109	79073	broad.mit.edu	37	chr11	60687353	60687353	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gataggtcgatctgtgcgagGgacactggatgcctggattg	16	7	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:60687353G>T	uc001nqg.2	+	2	566	c.188G>T	c.(187-189)GGG>GTG	p.G63V	TMEM109_uc001nqh.2_Missense_Mutation_p.G63V	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	transmembrane protein 109 precursor	63						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane					0						TCTGTGCGAGGGACACTGGAT	0.522													T	60687353	G	T	60687353	3	4	98	1	0	0	0	0	1	0	0	0	16022	1232	43	5	190	5	TMEM109	11	60687353	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	16024	60687353	74319163	949	65279											
TMEM132A	54972	broad.mit.edu	37	chr11	60701069	60701069	+	Frame_Shift_Del	DEL	G	G	-													caaggagagccggggcgcccGgggggtgcgagtggacttct							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:60701068_60701068CG>C	uc001nqi.3	+	7	1607	c.1414_1414CG>C	c.(1414-1416)cggfs	p.R472fs	TMEM132A_uc001nqj.3_Frame_Shift_Del_p.R471fs|TMEM132A_uc001nqk.3_Frame_Shift_Del_p.R484fs|TMEM132A_uc001nql.1_3'UTR	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	471						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCGGGGCGCCCGGGGGGTGCG	0.692													-	60701069	G	-	60701069	7	5	98	1	0	1	0	1	0	0	0	0	16042	1116	39	0	1445	0	TMEM132A	11	60701069	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	13716	60701069	74305447	950	65280											
SYT7	9066	broad.mit.edu	37	chr11	61323632	61323632	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgacagtgacgctaaggcTgacggtgatgatggcagaga	16	7	0	5			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:61323632T>G	uc001nrv.2	-	2	85	c.79A>C	c.(79-81)AGC>CGC	p.S27R	SYT7_uc009ynr.2_Missense_Mutation_p.S27R|SYT7_uc001nrx.1_RNA	NM_004200	NP_004191	O43581	SYT7_HUMAN	synaptotagmin VII	27	Helical; (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4						ACGCTAAGGCTGACGGTGATG	0.667													G	61323632	T	G	61323632	3	3	98	1	0	0	0	0	1	0	0	0	15476	1580	55	5	1164	5	SYT7	11	61323632	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	622563	61323632	73682884	951	65281											
RAB3IL1	5866	broad.mit.edu	37	chr11	61675532	61675532	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggcacccaccttctgCgctctgtgcagctcctcctt	8	18	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:61675532C>T	uc001nso.2	-	2	416	c.258G>A	c.(256-258)GCG>GCA	p.A86A	RAB3IL1_uc001nsp.2_Silent_p.A133A	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	86	Potential.						protein binding			skin(2)|central_nervous_system(1)	3						CCACCTTCTGCGCTCTGTGCA	0.642													T	61675532	C	T	61675532	2	4	98	1	0	0	0	0	0	0	0	1	12937	755	27	1		1	RAB3IL1	11	61675532	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	351900	61675532	73330984	952	65282											
INCENP	3619	broad.mit.edu	37	chr11	61897762	61897762	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgggacggggcggtctgcgTctaagctcaggattgcgcag	17	10	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:61897762T>C	uc001nsw.1	+	4	965	c.763T>C	c.(763-765)TCT>CCT	p.S255P	INCENP_uc009ynv.2_Missense_Mutation_p.S255P|INCENP_uc009ynw.1_Missense_Mutation_p.S255P|INCENP_uc001nsx.1_Missense_Mutation_p.S255P	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	255					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1						GCGGTCTGCGTCTAAGCTCAG	0.647													C	61897762	T	C	61897762	3	2	98	1	0	0	0	0	1	0	0	0	7733	1667	58	3	773	3	INCENP	11	61897762	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	222230	61897762	73108754	953	65283											
AHNAK	79026	broad.mit.edu	37	chr11	62290261	62290261	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggttaagatcaatgtcAggcatggagatcttgggggc	14	6	4	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:62290261A>G	uc001ntl.2	-	5	11928	c.11628T>C	c.(11626-11628)CCT>CCC	p.P3876P	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3876					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GATCAATGTCAGGCATGGAGA	0.448													G	62290261	A	G	62290261	2	3	98	1	0	0	0	0	0	0	0	1	414	175	7	3		3	AHNAK	11	62290261	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	392499	62290261	72716255	954	65284											
ZBTB3	79842	broad.mit.edu	37	chr11	62519843	62519845	+	In_Frame_Del	DEL	AGA	AGA	-													ccgtagtgtgtaagagcatgAgaaggtcttcccacatgtct							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:62519842_62519844GAGA>G	uc001nuz.3	-	1	1565_1567	c.1443_1445TCTC>C	c.(1441-1446)ttctca>ttCa	p.S482del		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	Homo sapiens zinc finger and BTB domain containing 3 (ZBTB3), mRNA.	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F481L(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GTAAGAGCATGAGAAGGTCTTCC	0.552													-	62519845	AGA	-	62519843	7	5	98	1	0	1	0	1	0	0	0	0	17531	304	11	0	284	0	ZBTB3	11	62519843	In_Frame_Del	DEL	AGA	TCGA-BR-8591-01A-11D-2394-08	229582	62519843	72486673	955	65285											
TRPT1	83707	broad.mit.edu	37	chr11	63992129	63992129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttccagaatgtaccatGgactagcatcgggggcaggg	15	9	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:63992129G>A	uc001nyo.2	-	5	602	c.388C>T	c.(388-390)CAT>TAT	p.H130Y	TRPT1_uc010rnc.1_Missense_Mutation_p.H130Y|TRPT1_uc010rnd.1_Missense_Mutation_p.H132Y|TRPT1_uc001nyn.2_Missense_Mutation_p.H81Y|TRPT1_uc010rne.1_Missense_Mutation_p.H130Y|TRPT1_uc010rnf.1_Missense_Mutation_p.H130Y|NUDT22_uc009ypd.2_5'Flank|NUDT22_uc001nyp.3_5'Flank|NUDT22_uc009ype.2_5'Flank|NUDT22_uc001nyq.3_5'Flank|NUDT22_uc010rng.1_5'Flank	NM_001033678	NP_001028850	Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1 isoform 1	130							tRNA 2'-phosphotransferase activity				0						AATGTACCATGGACTAGCATC	0.612													A	63992129	G	A	63992129	3	1	98	1	0	0	0	0	1	0	0	0	16591	1348	47	4	392	4	TRPT1	11	63992129	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1472286	63992129	71014387	956	65286											
GPR137	56834	broad.mit.edu	37	chr11	64054482	64054482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggccggagatgagccgaGgcttgtaagtactcgggaca	16	9	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:64054482G>A	uc001nzg.1	+	3	711	c.403G>A	c.(403-405)GGC>AGC	p.G135S	BAD_uc001nzd.2_5'Flank|BAD_uc001nzc.2_5'Flank|GPR137_uc009ypj.1_Missense_Mutation_p.G141S|BAD_uc009ypk.2_5'Flank|GPR137_uc010rni.1_Missense_Mutation_p.G193S|GPR137_uc001nze.1_Missense_Mutation_p.G135S|GPR137_uc001nzf.2_Missense_Mutation_p.G135S|GPR137_uc001nzh.1_Missense_Mutation_p.G135S|GPR137_uc001nzi.2_Missense_Mutation_p.G135S|GPR137_uc010rnj.1_Missense_Mutation_p.G135S	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	135	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(1)	1						GATGAGCCGAGGCTTGTAAGT	0.517													A	64054482	G	A	64054482	3	1	98	1	0	0	0	0	1	0	0	0	6645	1000	35	4	591	4	GPR137	11	64054482	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	62353	64054482	70952034	957	65287											
NRXN2	9379	broad.mit.edu	37	chr11	64418771	64418771	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtcattgccgttgcccgaGttgaacagaagaagcccatc	10	11	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:64418771G>T	uc001oar.2	-	15	3313	c.2874C>A	c.(2872-2874)AAC>AAA	p.N958K	NRXN2_uc001oas.2_Missense_Mutation_p.N918K|NRXN2_uc001oaq.2_Missense_Mutation_p.N625K	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						CGTTGCCCGAGTTGAACAGAA	0.592											OREG0004037|OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=REGULATORY REGION|Gene=AL137356|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	64418771	G	T	64418771	3	4	98	1	0	0	0	0	1	0	0	0	10666	1020	36	5	2573	5	NRXN2	11	64418771	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	364289	64418771	70587745	958	65288											
NRXN2	9379	broad.mit.edu	37	chr11	64453315	64453315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgttgcgttgcagggtgcGgaaggccagtgtgatctcat	16	9	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:64453315G>A	uc001oar.2	-	7	1394	c.955C>T	c.(955-957)CGC>TGC	p.R319C	NRXN2_uc001oas.2_Missense_Mutation_p.R295C|NRXN2_uc001oaq.2_5'UTR	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						TGCAGGGTGCGGAAGGCCAGT	0.567													A	64453315	G	A	64453315	3	1	98	1	0	0	0	0	1	0	0	0	10666	1116	39	1	4524	1	NRXN2	11	64453315	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	34544	64453315	70553201	959	65289											
DKFZp761E198	91056	broad.mit.edu	37	chr11	65546326	65546326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcatctccatctgccacCtttgccagcatttgcaggtg	10	13	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:65546326C>T	uc001ofo.3	-	1	1497	c.1467G>A	c.(1465-1467)AAG>AAA	p.K489K		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	hypothetical protein LOC91056	489							protein binding				0				READ - Rectum adenocarcinoma(159;0.167)		CATCTGCCACCTTTGCCAGCA	0.627													T	65546326	C	T	65546326	2	4	98	1	0	0	0	0	0	0	0	1	4543	680	24	4		4	DKFZp761E198	11	65546326	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1093011	65546326	69460190	960	65290											
YIF1A	10897	broad.mit.edu	37	chr11	66052202	66052202	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggagacgctgccgggggAcggggccccccatgctgtcg	18	14	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:66052202A>G	uc001ohk.3	-	8	970	c.788T>C	c.(787-789)GTC>GCC	p.V263A	YIF1A_uc001ohj.2_Missense_Mutation_p.V120A	NM_020470	NP_065203	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog	263	Cytoplasmic (Potential).				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane					0						CTGCCGGGGGACGGGGCCCCC	0.652													G	66052202	A	G	66052202	3	3	98	1	0	0	0	0	1	0	0	0	17472	275	10	3	97	3	YIF1A	11	66052202	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	505876	66052202	68954314	961	65291											
YIF1A	10897	broad.mit.edu	37	chr11	66055105	66055105	+	Frame_Shift_Del	DEL	G	G	-													aggggcgttgaggtcttgccGggggggcagaggagcatcac							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:66055104_66055104CG>C	uc001ohk.4	-	3	574	c.392_392CG>G	c.(391-393)cggfs	p.R131fs	YIF1A_uc009yrc.3_Frame_Shift_Del_p.R96fs	NM_020470	NP_065203	O95070	YIF1A_HUMAN	Homo sapiens Yip1 interacting factor homolog A (S. cerevisiae) (YIF1A), mRNA.	131					protein transport|vesicle-mediated transport	ER-Golgi intermediate compartment|Golgi membrane|centrosome|endoplasmic reticulum membrane|integral to membrane		p.R131L(2)|p.P130P(1)|p.P130R(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						GAGGTCTTGCCGGGGGGGCAG	0.622													-	66055105	G	-	66055105	7	5	98	1	0	1	0	1	0	0	0	0	17472	1115	39	0	510	0	YIF1A	11	66055105	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	2903	66055105	68951411	962	65292											
CD248	57124	broad.mit.edu	37	chr11	66083578	66083578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgtccacacagcggtgCggatcatcctccgctggccg	12	15	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:66083578C>T	uc001ohm.1	-	1	938	c.921G>A	c.(919-921)CCG>CCA	p.P307P		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	307	Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	CACAGCGGTGCGGATCATCCT	0.617													T	66083578	C	T	66083578	2	4	98	1	0	0	0	0	0	0	0	1	2989	755	27	1		1	CD248	11	66083578	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	28473	66083578	68922938	963	65293											
CD248	57124	broad.mit.edu	37	chr11	66083958	66083958	+	Frame_Shift_Del	DEL	T	T	-													ggagaccaggtggaagggcgTggtatacacggctgggccgg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:66083957_66083957GT>G	uc001ohm.1	-	0	559	c.542_542AC>C	c.(541-543)acgfs	p.T181fs		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	181	Sushi.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GTGGAAGGGCGTGGTATACAC	0.677													-	66083958	T	-	66083958	7	5	98	1	0	1	0	1	0	0	0	0	2989	1696	59	0	1736	0	CD248	11	66083958	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	380	66083958	68922558	964	65294											
SLC29A2	3177	broad.mit.edu	37	chr11	66131805	66131805	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggatgggcagccgggAcctctggggcacgtggcaca	18	10	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:66131805A>G	uc001oht.2	-	11	1379	c.1150T>C	c.(1150-1152)TCC>CCC	p.S384P	SLC29A2_uc001ohs.2_Missense_Mutation_p.S264P|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.S264P|SLC29A2_uc001ohu.2_Missense_Mutation_p.S384P|SLC29A2_uc001ohv.2_Missense_Mutation_p.V339A	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	384					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1						GGCAGCCGGGACCTCTGGGGC	0.607											OREG0021103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	66131805	A	G	66131805	3	3	98	1	0	0	0	0	1	0	0	0	14535	275	10	3	228	3	SLC29A2	11	66131805	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	47847	66131805	68874711	965	65295											
NPAS4	266743	broad.mit.edu	37	chr11	66191809	66191809	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcccagatccactaactaGcccactgcaaggccagttga	7	15	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:66191809G>T	uc001ohx.1	+	7	1624	c.1448G>T	c.(1447-1449)AGC>ATC	p.S483I	NPAS4_uc010rpc.1_Missense_Mutation_p.S273I	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	483					transcription, DNA-dependent		DNA binding|signal transducer activity				0						CCACTAACTAGCCCACTGCAA	0.552													T	66191809	G	T	66191809	3	4	98	1	0	0	0	0	1	0	0	0	10565	971	34	5	1474	5	NPAS4	11	66191809	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	60004	66191809	68814707	966	65296											
KDM2A	22992	broad.mit.edu	37	chr11	67018168	67018168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgggctcaggatggagaCgaaagctggatgcagcggga	18	6	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:67018168C>T	uc001ojw.2	+	17	3531	c.2667C>T	c.(2665-2667)GAC>GAT	p.D889D	KDM2A_uc001ojx.2_Intron|KDM2A_uc001ojy.2_Silent_p.D583D|KDM2A_uc010rpn.1_Silent_p.D450D|KDM2A_uc001ojz.1_Silent_p.D347D|KDM2A_uc001oka.2_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	889	F-box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						AGGATGGAGACGAAAGCTGGA	0.473													T	67018168	C	T	67018168	2	4	98	1	0	0	0	0	0	0	0	1	8124	535	19	1		1	KDM2A	11	67018168	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	826359	67018168	67988348	967	65297											
SSH3	54961	broad.mit.edu	37	chr11	67075058	67075058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccaagcatgtgaggcagCtctaggcagcggccttgtac	13	12	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:67075058C>T	uc001okj.2	+	7	819	c.641C>T	c.(640-642)GCT>GTT	p.A214V	SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Missense_Mutation_p.A68V	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3	214					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGTGAGGCAGCTCTAGGCAGC	0.622													T	67075058	C	T	67075058	3	4	98	1	0	0	0	0	1	0	0	0	15185	797	28	2	667	2	SSH3	11	67075058	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	56890	67075058	67931458	968	65298											
CORO1B	57175	broad.mit.edu	37	chr11	67208817	67208817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgtactgccaccagggtgCcccgacgggggtcgatgatg	15	13	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:67208817C>T	uc001olj.1	-	4	659	c.623G>A	c.(622-624)GGC>GAC	p.G208D	CORO1B_uc009yrs.1_RNA|CORO1B_uc001olk.1_Missense_Mutation_p.G208D|CORO1B_uc009yrt.1_RNA|CORO1B_uc009yru.1_RNA|CORO1B_uc001oll.1_Missense_Mutation_p.G208D|CORO1B_uc010rps.1_Missense_Mutation_p.G208D|CORO1B_uc009yrv.1_3'UTR	NM_020441	NP_065174	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	208	WD 3.				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			large_intestine(1)|ovary(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CACCAGGGTGCCCCGACGGGG	0.617													T	67208817	C	T	67208817	3	4	98	1	0	0	0	0	1	0	0	0	3754	739	26	2	874	2	CORO1B	11	67208817	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	133759	67208817	67797699	969	65299											
MYEOV	26579	broad.mit.edu	37	chr11	69063839	69063839	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acctcctcctcctcctcctcAtcatcatcctcacttgttga	2	19	4	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:69063839A>C	uc001oov.2	+	3	1372	c.922A>C	c.(922-924)ATC>CTC	p.I308L	MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.I308L|MYEOV_uc001oow.2_Missense_Mutation_p.I250L	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	308											0	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		cctcctcctcatcatcatcct	0.194													C	69063839	A	C	69063839	3	2	98	1	0	0	0	0	1	0	0	0	10025	217	8	5	928	5	MYEOV	11	69063839	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1855022	69063839	65942677	970	65300											
KRTAP5-7	440050	broad.mit.edu	37	chr11	71238828	71238828	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgtgtccccgtgtgctGccagtgtaagatctgaggct	13	11	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:71238828G>C	uc001oqq.1	+	1	516	c.482G>C	c.(481-483)TGC>TCC	p.C161S		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	161						keratin filament					0						CCCGTGTGCTGCCAGTGTAAG	0.363													C	71238828	G	C	71238828	3	2	98	1	0	0	0	0	1	0	0	0	8566	1319	46	5	484	5	KRTAP5-7	11	71238828	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2174989	71238828	63767688	971	65301											
CLPB	81570	broad.mit.edu	37	chr11	72004429	72004429	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctagatggtgttgcacacCttctcagggtgcagtggtgc	14	9	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:72004429C>A	uc001osj.2	-	17	2156	c.2106G>T	c.(2104-2106)AAG>AAT	p.K702N	CLPB_uc010rqx.1_Missense_Mutation_p.K657N|CLPB_uc010rqy.1_Missense_Mutation_p.K643N|CLPB_uc001osk.2_Missense_Mutation_p.K672N|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Missense_Mutation_p.K501N|CLPB_uc001osi.2_Missense_Mutation_p.K310N	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B	702					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1						TGTTGCACACCTTCTCAGGGT	0.592													A	72004429	C	A	72004429	3	1	98	1	0	0	0	0	1	0	0	0	3551	680	24	5	21	5	CLPB	11	72004429	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	765601	72004429	63002087	972	65302											
ARHGEF17	9828	broad.mit.edu	37	chr11	73021308	73021308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacttgacagccactctgcGgagagcaaagtcattcacct	10	12	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:73021308G>A	uc001otu.2	+	1	1646	c.1625G>A	c.(1624-1626)CGG>CAG	p.R542Q		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	542					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						GCCACTCTGCGGAGAGCAAAG	0.642													A	73021308	G	A	73021308	3	1	98	1	0	0	0	0	1	0	0	0	900	1116	39	1	1627	1	ARHGEF17	11	73021308	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1016879	73021308	61985208	973	65303											
DGAT2	84649	broad.mit.edu	37	chr11	75511517	75511517	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacaagcacaagaccaagttCggcctcccggagactgaggt	12	12	0	3	rs148751558	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:75511517C>T	uc001oxa.2	+	8	1390	c.1131C>T	c.(1129-1131)TTC>TTT	p.F377F	DGAT2_uc001oxb.2_Silent_p.F334F	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	377	Cytoplasmic (Potential).				glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity				0	Ovarian(111;0.103)					AGACCAAGTTCGGCCTCCCGG	0.552													T	75511517	C	T	75511517	2	4	98	1	0	0	0	0	0	0	0	1	4458	883	31	1		1	DGAT2	11	75511517	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2490209	75511517	59494999	974	65304											
UVRAG	7405	broad.mit.edu	37	chr11	75852185	75852185	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgagcaggccgggtccgccAgtgtccagcttccaggcgag	16	14	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:75852185A>G	uc001oxc.2	+	15	2069	c.1828A>G	c.(1828-1830)AGT>GGT	p.S610G	UVRAG_uc010rrw.1_Missense_Mutation_p.S509G|UVRAG_uc001oxd.2_Missense_Mutation_p.S238G|UVRAG_uc010rrx.1_Missense_Mutation_p.S238G|UVRAG_uc010rry.1_Missense_Mutation_p.S166G	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	610					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			skin(4)|lung(2)	6						CGGGTCCGCCAGTGTCCAGCT	0.602													G	75852185	A	G	75852185	3	3	98	1	0	0	0	0	1	0	0	0	17105	188	7	3	1886	3	UVRAG	11	75852185	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	340668	75852185	59154331	975	65305											
B3GNT6	192134	broad.mit.edu	37	chr11	76751336	76751336	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggccgccacctgttctcCggccagctcatggagggctc	12	18	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:76751336C>T	uc001oxw.2	+	2	829	c.741C>T	c.(739-741)TCC>TCT	p.S247S		NM_138706	NP_619651	Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal	247	Lumenal (Potential).				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity				0						ACCTGTTCTCCGGCCAGCTCA	0.677													T	76751336	C	T	76751336	2	4	98	1	0	0	0	0	0	0	0	1	1261	639	23	1		1	B3GNT6	11	76751336	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	899151	76751336	58255180	976	65306											
RAB30	27314	broad.mit.edu	37	chr11	82705151	82705151	+	Frame_Shift_Del	DEL	G	G	-													caattgtggctccttgacctGgggggaaaagaccctgaaga							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:82705150_82705150TG>T	uc001ozu.3	-	3	369	c.108_108CA>A	c.(106-108)ccafs	p.P36fs	RAB30_uc009yve.3_Frame_Shift_Del_p.P34fs|RAB30_uc010rst.2_Frame_Shift_Del_p.P36fs|RAB30_uc001ozv.3_Frame_Shift_Del_p.P34fs|RAB30_uc009yvg.1_Intron	NM_014488	NP_055303	Q15771	RAB30_HUMAN	Homo sapiens RAB30, member RAS oncogene family (RAB30), mRNA.	36					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						CTCCTTGACCTGGGGGGAAAA	0.378													-	82705151	G	-	82705151	7	5	98	1	0	1	0	1	0	0	0	0	12919	1348	47	0	516	0	RAB30	11	82705151	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	5953815	82705151	52301365	977	65307											
TYR	7299	broad.mit.edu	37	chr11	88911521	88911521	+	Frame_Shift_Del	DEL	T	T	-													gtgccccagagaaggacaaaTtttttgcctacctcacttta							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:88911520_88911520AT>A	uc001pcs.3	+	0	481	c.399_399AT>A	c.(397-399)aaafs	p.K133fs		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	133					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AGAAGGACAAATTTTTTGCCT	0.453													-	88911521	T	-	88911521	7	5	98	1	0	1	0	1	0	0	0	0	16810	1493	52	0	402	0	TYR	11	88911521	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	6206370	88911521	46094995	978	65308											
FAT3	120114	broad.mit.edu	37	chr11	92087572	92087572	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaaaagtgctatttacaaTatcagatggaaatacggata	9	4	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:92087572T>C	uc001pdj.3	+	1	2311	c.2294T>C	c.(2293-2295)ATA>ACA	p.I765T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	765	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTATTTACAATATCAGATGGA	0.423										TCGA Ovarian(4;0.039)			C	92087572	T	C	92087572	3	2	98	1	0	0	0	0	1	0	0	0	5691	1406	49	3	2296	3	FAT3	11	92087572	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	3176051	92087572	42918944	979	65309											
SLC36A4	120103	broad.mit.edu	37	chr11	92930964	92930964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagctcctcgcgcctcgccGccccggcagccgccggcgtc	12	22	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:92930964G>A	uc001pdn.2	-	1	132	c.35C>T	c.(34-36)GCG>GTG	p.A12V		NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid	12					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCGCCTCGCCGCCCCGGCAGC	0.766													A	92930964	G	A	92930964	3	1	98	1	0	0	0	0	1	0	0	0	14596	1087	38	1	1523	1	SLC36A4	11	92930964	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	843392	92930964	42075552	980	65310											
MAML2	84441	broad.mit.edu	37	chr11	95724831	95724831	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccagtgtttggatttgaGcaggggttaggacttggact	14	6	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:95724831G>A	uc001pfw.1	-	3	3481	c.2196C>T	c.(2194-2196)TGC>TGT	p.C732C		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	732					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTGGATTTGAGCAGGGGTTAG	0.463			T	MECT1|CRTC3	salivary gland mucoepidermoid								A	95724831	G	A	95724831	2	1	98	1	0	0	0	0	0	0	0	1	9206	963	34	2		2	MAML2	11	95724831	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2793867	95724831	39281685	981	65311											
PGR	5241	broad.mit.edu	37	chr11	100998971	100998971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccagggcgaccctgggCgctgagaagcgggaatcttc	14	13	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:100998971C>T	uc001pgh.2	-	1	1574	c.831G>A	c.(829-831)GCG>GCA	p.A277A	PGR_uc001pgi.2_Silent_p.A277A|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	277	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CGACCCTGGGCGCTGAGAAGC	0.731													T	100998971	C	T	100998971	2	4	98	1	0	0	0	0	0	0	0	1	11805	755	27	1		1	PGR	11	100998971	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	5274140	100998971	34007545	982	65312											
MMP8	4317	broad.mit.edu	37	chr11	102593290	102593290	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttggcttccccgtcacatTcaacccaaaaaatcgctgca	5	14	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:102593290T>G	uc001phe.2	-	2	316	c.217A>C	c.(217-219)AAT>CAT	p.N73H	MMP8_uc010rut.1_Missense_Mutation_p.N8H|MMP8_uc010ruu.1_Missense_Mutation_p.N50H	NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	73					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		CCCGTCACATTCAACCCAAAA	0.443													G	102593290	T	G	102593290	3	3	98	1	0	0	0	0	1	0	0	0	9668	1783	62	5	1222	5	MMP8	11	102593290	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1594319	102593290	32413226	983	65313											
MMP10	4319	broad.mit.edu	37	chr11	102647035	102647036	+	Frame_Shift_Ins	INS	-	-	C													tttaaagaacagatattctcINSccctcagagtgctgatggca							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:102647034_102647035T>TC	uc001phg.2	-	5	945_946	c.908_909A>GA	c.(907-909)ggafs	p.G303fs		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	303	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		ACAGATATTCTCCCCTCAGAGT	0.431													C	102647036	-	C	102647035	7	5	98	1	0	1	1	0	0	0	0	0	9649	855	30	0	542	0	MMP10	11	102647035	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	53745	102647035	32359481	984	65314											
DDI1	414301	broad.mit.edu	37	chr11	103908681	103908681	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggatggtaagtgggcaagaTgagtcttcggacaaggaaat	15	4	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:103908681T>C	uc001phr.2	+	1	1374	c.1131T>C	c.(1129-1131)GAT>GAC	p.D377D	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	377					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GTGGGCAAGATGAGTCTTCGG	0.453													C	103908681	T	C	103908681	2	2	98	1	0	0	0	0	0	0	0	1	4328	1461	51	3		3	DDI1	11	103908681	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1261646	103908681	31097835	985	65315											
GUCY1A2	2977	broad.mit.edu	37	chr11	106810878	106810879	+	Frame_Shift_Ins	INS	-	-	T													aagaactcttcaccaaatctINStttttgaatttcctcaaact							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:106810877_106810878C>CT	uc009yxn.1	-	3	904_905	c.514_515G>AG	c.(514-516)agafs	p.R172fs	GUCY1A2_uc001pjg.1_Frame_Shift_Ins_p.R172fs|GUCY1A2_uc010rvo.1_Frame_Shift_Ins_p.R172fs	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	172					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTCACCAAATCTTTTTTGAATT	0.337													T	106810879	-	T	106810878	7	5	98	1	0	1	1	0	0	0	0	0	6893	1617	56	0	1704	0	GUCY1A2	11	106810878	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	2902197	106810878	28195638	986	65316											
NPAT	4863	broad.mit.edu	37	chr11	108043984	108043984	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatttctattttactcttgTgaacttcactagaatctgat	4	7	4	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:108043984T>C	uc001pjz.3	-	13	1829	c.1727A>G	c.(1726-1728)CAC>CGC	p.H576R	NPAT_uc001pka.2_Missense_Mutation_p.H371R	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	576					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTTACTCTTGTGAACTTCACT	0.294													C	108043984	T	C	108043984	3	2	98	1	0	0	0	0	1	0	0	0	10566	1696	59	3	2580	3	NPAT	11	108043984	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1233106	108043984	26962532	987	65317											
ATM	472	broad.mit.edu	37	chr11	108143578	108143578	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctgcagagtcaatcaatAggtaatgggtcaaatattca	10	6	4	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:108143578A>G	uc001pkb.1	+	22	3668	c.3283A>G	c.(3283-3285)AGA>GGA	p.R1095G	ATM_uc009yxr.1_Missense_Mutation_p.R1095G	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1095					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTCAATCAATAGGTAATGGGT	0.343			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			G	108143578	A	G	108143578	3	3	98	1	0	0	0	0	1	0	0	0	1109	434	15	3	3365	3	ATM	11	108143578	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	99594	108143578	26862938	988	65318											
RDX	5962	broad.mit.edu	37	chr11	110104137	110104138	+	Frame_Shift_Ins	INS	-	-	G													tggtggtggtggaggtggagINSggggggcagacatcacagtt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:110104136_110104137A>AG	uc009yxy.3	-	12	1722_1723	c.1412_1413T>CT	c.(1411-1413)cctfs	p.P471fs	RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Frame_Shift_Ins_p.P124fs|RDX_uc009yya.3_Intron|RDX_uc001pks.3_Frame_Shift_Ins_p.P5fs|RDX_uc001pkt.3_Frame_Shift_Ins_p.P125fs|RDX_uc001pku.3_Frame_Shift_Ins_p.P471fs|RDX_uc010rwe.2_Frame_Shift_Ins_p.P335fs	NM_002906	NP_002897	P35241	RADI_HUMAN	Homo sapiens radixin (RDX), mRNA.	471	Glu-rich.|Poly-Pro.				actin filament capping	Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431													G	110104138	-	G	110104137	7	5	98	1	0	1	1	0	0	0	0	0	13198	1000	35	0	347	0	RDX	11	110104137	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	1960559	110104137	24902379	989	65319											
SIK2	23235	broad.mit.edu	37	chr11	111593411	111593411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagccttctgtcaaaggCccagaacacctgtcagcttt	8	15	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:111593411C>T	uc001plt.2	+	14	2196	c.2078C>T	c.(2077-2079)GCC>GTC	p.A693V		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	693					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						CTGTCAAAGGCCCAGAACACC	0.517													T	111593411	C	T	111593411	3	4	98	1	0	0	0	0	1	0	0	0	14318	739	26	2	2132	2	SIK2	11	111593411	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1489274	111593411	23413105	990	65320											
ZW10	9183	broad.mit.edu	37	chr11	113618308	113618308	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctggctgccacaatcacaTcctggcactttttgtttgca	7	12	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:113618308T>C	uc001poe.2	-	9	1254	c.1217A>G	c.(1216-1218)GAT>GGT	p.D406G	ZW10_uc009yyv.2_RNA	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	406					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CACAATCACATCCTGGCACTT	0.348													C	113618308	T	C	113618308	3	2	98	1	0	0	0	0	1	0	0	0	18244	1435	50	3	1154	3	ZW10	11	113618308	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	2024897	113618308	21388208	991	65321											
MLL	4297	broad.mit.edu	37	chr11	118391558	118391558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaatgcccatgcgcttccGgcacttaaaaaagacttcta	7	13	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:118391558G>A	uc001pta.2	+	34	11485	c.11462G>A	c.(11461-11463)CGG>CAG	p.R3821Q	MLL_uc001ptb.2_Missense_Mutation_p.R3824Q	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3821					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		ATGCGCTTCCGGCACTTAAAA	0.368			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								A	118391558	G	A	118391558	3	1	98	1	0	0	0	0	1	0	0	0	9620	1116	39	1	11596	1	MLL	11	118391558	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	4773250	118391558	16614958	992	65322											
BCL9L	283149	broad.mit.edu	37	chr11	118769762	118769762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtatgcgtcgcccatgcGcccagccatggctttgccca	12	15	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:118769762G>A	uc001pug.2	-	8	4827	c.3862C>T	c.(3862-3864)CGC>TGC	p.R1288C	BCL9L_uc009zal.2_Missense_Mutation_p.R1283C	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1288	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCGCCCATGCGCCCAGCCATG	0.692													A	118769762	G	A	118769762	3	1	98	1	0	0	0	0	1	0	0	0	1382	1087	38	1	641	1	BCL9L	11	118769762	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	378204	118769762	16236754	993	65323											
HINFP	25988	broad.mit.edu	37	chr11	119004838	119004838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgcggctgcagctggttcGctacgagagtgtagagctga	15	8	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:119004838G>A	uc001pvp.2	+	11	1373	c.1184G>A	c.(1183-1185)CGC>CAC	p.R395H	HINFP_uc001pvq.2_Missense_Mutation_p.R395H|HINFP_uc001pvr.2_Missense_Mutation_p.R148H	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN	MBD2 (methyl-CpG-binding protein)-interacting	395	Interaction with NPAT.|Required for activation of histone H4 transcription and contributes to DNA- binding.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						CAGCTGGTTCGCTACGAGAGT	0.557											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	119004838	G	A	119004838	3	1	98	1	0	0	0	0	1	0	0	0	7110	1087	38	1	1218	1	HINFP	11	119004838	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	235076	119004838	16001678	994	65324											
CCDC153	283152	broad.mit.edu	37	chr11	119061043	119061044	+	Frame_Shift_Ins	INS	-	-	G													tggtggcctcaaagatccagINSggggggtgagtccaaactgg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:119061042_119061043A>AG	uc010rze.2	-	6	813_814	c.599_600T>CT	c.(598-600)cctfs	p.P200fs		NM_001145018	NP_001138490	Q494R4	CC153_HUMAN	Homo sapiens coiled-coil domain containing 153 (CCDC153), mRNA.	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGAG	0.569													G	119061044	-	G	119061043	7	5	98	1	0	1	1	0	0	0	0	0	2787	1000	35	0	37	0	CCDC153	11	119061043	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	56205	119061043	15945473	995	65325											
USP2	9099	broad.mit.edu	37	chr11	119228271	119228271	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgtgagcttgctggttcGgatcctggattctgagaacc	13	8	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:119228271G>A	uc001pwm.3	-	11	1826	c.1531C>T	c.(1531-1533)CGA>TGA	p.R511*	USP2_uc001pwl.3_Nonsense_Mutation_p.R302*|USP2_uc001pwn.3_Nonsense_Mutation_p.R268*	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	511					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		ttgctggttcggatcctggat	0.333													A	119228271	G	A	119228271	4	1	98	1	0	0	0	0	0	1	0	0	17048	1124	39	1	298	1	USP2	11	119228271	Nonsense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	167228	119228271	15778245	996	65326											
SORL1	6653	broad.mit.edu	37	chr11	121475017	121475017	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgctcggacgagagcgaTgaaaaggcctgcagtggtga	16	8	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:121475017T>C	uc001pxx.2	+	33	4715	c.4635T>C	c.(4633-4635)GAT>GAC	p.D1545D	SORL1_uc010rzp.1_Silent_p.D391D|SORL1_uc010rzq.1_Silent_p.D160D	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1545	Extracellular (Potential).|LDL-receptor class A 11.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACGAGAGCGATGAAAAGGCCT	0.542													C	121475017	T	C	121475017	2	2	98	1	0	0	0	0	0	0	0	1	14934	1461	51	3		3	SORL1	11	121475017	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	2246746	121475017	13531499	997	65327											
OR4D5	219875	broad.mit.edu	37	chr11	123810952	123810952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctggtgaccctgatgtGttttctggtgcttctgggat	14	8	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:123810952G>A	uc001pzk.1	+	1	629	c.629G>A	c.(628-630)TGT>TAT	p.C210Y		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D,	210	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ACCCTGATGTGTTTTCTGGTG	0.512													A	123810952	G	A	123810952	3	1	98	1	0	0	0	0	1	0	0	0	11057	1377	48	4	631	4	OR4D5	11	123810952	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2335935	123810952	11195564	998	65328											
OR10G7	390265	broad.mit.edu	37	chr11	123909354	123909354	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggccaggtagcgatcatAggacatgactgtgtagagga	15	6	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:123909354A>G	uc001pzq.1	-	1	355	c.355T>C	c.(355-357)TAT>CAT	p.Y119H		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TAGCGATCATAGGACATGACT	0.577													G	123909354	A	G	123909354	3	3	98	1	0	0	0	0	1	0	0	0	10902	420	15	3	584	3	OR10G7	11	123909354	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	98402	123909354	11097162	999	65329											
CHEK1	1111	broad.mit.edu	37	chr11	125523731	125523731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaaatattggttgacttcCggctttctaaggtattttta	7	5	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:125523731C>T	uc009zbo.2	+	12	2216	c.1324C>T	c.(1324-1326)CGG>TGG	p.R442W	CHEK1_uc010sbh.1_Missense_Mutation_p.R458W|CHEK1_uc010sbi.1_Intron|CHEK1_uc001qcf.3_Missense_Mutation_p.R442W|CHEK1_uc009zbp.2_Missense_Mutation_p.R442W|CHEK1_uc001qcg.3_Missense_Mutation_p.R442W|CHEK1_uc009zbq.2_Missense_Mutation_p.R398W|CHEK1_uc001qci.1_RNA|CHEK1_uc001qcj.2_Missense_Mutation_p.R90W	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	checkpoint kinase 1	442	Autoinhibitory region.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|skin(1)	6	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		GGTTGACTTCCGGCTTTCTAA	0.269								Other_conserved_DNA_damage_response_genes					T	125523731	C	T	125523731	3	4	98	1	0	0	0	0	1	0	0	0	3334	643	23	1	1366	1	CHEK1	11	125523731	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1614377	125523731	9482785	1000	65330											
ARHGAP32	9743	broad.mit.edu	37	chr11	128840993	128840993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcactgatgaaggcagacGcagggtcatccatggctcga	13	10	2	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:128840993G>A	uc009zcp.2	-	22	4073	c.4073C>T	c.(4072-4074)GCG>GTG	p.A1358V	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.A317V|ARHGAP32_uc001qez.2_Missense_Mutation_p.A1009V	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1358					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						GAAGGCAGACGCAGGGTCATC	0.537													A	128840993	G	A	128840993	3	1	98	1	0	0	0	0	1	0	0	0	881	1087	38	1	2194	1	ARHGAP32	11	128840993	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3317262	128840993	6165523	1001	65331											
ADAMTS15	170689	broad.mit.edu	37	chr11	130332143	130332143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccgacttcctggacagcGggcacggtaagccaggacgg	14	13	1	0	rs144157651	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:130332143G>A	uc010scd.1	+	3	1252	c.1252G>A	c.(1252-1254)GGG>AGG	p.G418R		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	418	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCTGGACAGCGGGCACGGTAA	0.647													A	130332143	G	A	130332143	3	1	98	1	0	0	0	0	1	0	0	0	260	1116	39	1	1262	1	ADAMTS15	11	130332143	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1491150	130332143	4674373	1002	65332											
SNX19	399979	broad.mit.edu	37	chr11	130785480	130785480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctcctggctcacggaacGgtaccaagataacacaaaat	9	11	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:130785480G>A	uc001qgk.3	-	1	903	c.355C>T	c.(355-357)CGT>TGT	p.R119C	SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.R119C|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	119	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CTCACGGAACGGTACCAAGAT	0.542													A	130785480	G	A	130785480	3	1	98	1	0	0	0	0	1	0	0	0	14890	1116	39	1	2667	1	SNX19	11	130785480	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	453337	130785480	4221036	1003	65333											
NTM	50863	broad.mit.edu	37	chr11	132205024	132205024	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctcttctggtcttgcaccTgcttctcaaattttgatgtg	8	11	4	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:132205024T>C	uc001qgp.2	+	7	1683	c.1019T>C	c.(1018-1020)CTG>CCG	p.L340P	NTM_uc001qgm.2_Missense_Mutation_p.L340P|NTM_uc010sch.1_Missense_Mutation_p.L342P|NTM_uc010sci.1_Missense_Mutation_p.L351P|NTM_uc010scj.1_Missense_Mutation_p.L299P|NTM_uc001qgq.2_Missense_Mutation_p.L351P|NTM_uc001qgr.2_Missense_Mutation_p.L122P	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	340					cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						GTCTTGCACCTGCTTCTCAAA	0.602													C	132205024	T	C	132205024	3	2	98	1	0	0	0	0	1	0	0	0	10699	1580	55	3	1185	3	NTM	11	132205024	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1419544	132205024	2801492	1004	65334											
GLB1L3	112937	broad.mit.edu	37	chr11	134179567	134179567	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatatgagatctccttcAatgtatatatgttccatggt	6	7	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:134179567A>G	uc009zdf.2	+	11	1369	c.1009A>G	c.(1009-1011)AAT>GAT	p.N337D	GLB1L3_uc010scu.1_Missense_Mutation_p.N38D|GLB1L3_uc001qho.3_RNA	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1 like 3	337					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GATCTCCTTCAATGTATATAT	0.438													G	134179567	A	G	134179567	3	3	98	1	0	0	0	0	1	0	0	0	6430	130	5	3	1051	3	GLB1L3	11	134179567	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1974543	134179567	826949	1005	65335											
SLC6A12	6539	broad.mit.edu	37	chr12	310931	310931	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgggcccagcacctactccCagaattccatgacaggtgag	10	13	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:310931C>A	uc001qhz.2	-	7	1118	c.575G>T	c.(574-576)TGG>TTG	p.W192L	SLC6A12_uc001qhx.2_5'Flank|SLC6A12_uc001qhy.2_5'Flank|SLC6A12_uc001qia.2_Missense_Mutation_p.W192L|SLC6A12_uc001qib.2_Missense_Mutation_p.W192L|SLC6A12_uc009zdh.1_Missense_Mutation_p.W192L|SLC6A12_uc009zdi.1_RNA	NM_003044	NP_003035	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter	192	Extracellular (Potential).				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			CACCTACTCCCAGAATTCCAT	0.488													A	310931	C	A	310931	3	1	98	1	0	0	0	0	1	0	0	0	14675	595	21	5	1313	5	SLC6A12	12	310931	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08		310931	133540964	1006	65336											
CACNA2D4	93589	broad.mit.edu	37	chr12	1904923	1904923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaggaggttactgttgGgaatctgctgcaccacaaat	14	7	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:1904923G>A	uc001qjp.2	-	36	3368	c.3137C>T	c.(3136-3138)CCC>CTC	p.P1046L	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc001qjo.2_Missense_Mutation_p.P189L|CACNA2D4_uc001qjs.1_Missense_Mutation_p.P113L|CACNA2D4_uc010sdw.1_Missense_Mutation_p.P176L|CACNA2D4_uc009zdr.1_RNA	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	1046	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTTACTGTTGGGAATCTGCTG	0.547													A	1904923	G	A	1904923	3	1	98	1	0	0	0	0	1	0	0	0	2551	1232	43	4	288	4	CACNA2D4	12	1904923	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1593992	1904923	131946972	1007	65337											
ITFG2	55846	broad.mit.edu	37	chr12	2929298	2929298	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgggctacacagaccgtgtGgtgcgagctttccgctggga	16	10	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:2929298G>T	uc001qlb.1	+	5	517	c.453G>T	c.(451-453)GTG>GTT	p.V151V	ITFG2_uc010seb.1_5'UTR|ITFG2_uc010sec.1_RNA	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	151	FG-GAP 2; atypical.										0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CAGACCGTGTGGTGCGAGCTT	0.592													T	2929298	G	T	2929298	2	4	98	1	0	0	0	0	0	0	0	1	7870	1335	47	5		5	ITFG2	12	2929298	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1024375	2929298	130922597	1008	65338											
FOXM1	2305	broad.mit.edu	37	chr12	2983629	2983629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgagaatcagtggccgacGggggctagttttcattatga	13	6	2	2	rs141301985	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:2983629G>A	uc001qlf.2	-	2	281	c.16C>T	c.(16-18)CGT>TGT	p.R6C	TULP3_uc010sef.1_5'Flank|FOXM1_uc001qle.2_Missense_Mutation_p.R6C|FOXM1_uc001qlg.2_Missense_Mutation_p.R6C|FOXM1_uc009zea.2_Missense_Mutation_p.R6C|FOXM1_uc009zeb.2_Missense_Mutation_p.R6C|C12orf32_uc001qlh.2_5'Flank|C12orf32_uc010see.1_5'Flank|C12orf32_uc001qli.2_5'Flank	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	forkhead box M1 isoform 2	6					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			AGTGGCCGACGGGGGCTAGTT	0.473													A	2983629	G	A	2983629	3	1	98	1	0	0	0	0	1	0	0	0	6018	1116	39	1	2425	1	FOXM1	12	2983629	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	54331	2983629	130868266	1009	65339											
C12orf5	57103	broad.mit.edu	37	chr12	4460518	4460518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtgccctgtgtttacacCgcccggaggagagacgctgg	15	11	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:4460518C>T	uc001qmp.2	+	5	435	c.356C>T	c.(355-357)CCG>CTG	p.P119L		NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	TP53-induced glycolysis and apoptosis regulator	119						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			skin(1)	1			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			GTGTTTACACCGCCCGGAGGA	0.498													T	4460518	C	T	4460518	3	4	98	1	0	0	0	0	1	0	0	0	1694	652	23	1	374	1	C12orf5	12	4460518	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1476889	4460518	129391377	1010	65340											
AKAP3	10566	broad.mit.edu	37	chr12	4737317	4737317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctctctggcataatctcCattacgagattcaaacactt	4	13	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:4737317C>T	uc001qnb.3	-	4	980	c.751G>A	c.(751-753)GGA>AGA	p.G251R		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	251					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						GCATAATCTCCATTACGAGAT	0.458													T	4737317	C	T	4737317	3	4	98	1	0	0	0	0	1	0	0	0	452	603	21	4	1818	4	AKAP3	12	4737317	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	276799	4737317	129114578	1011	65341											
CD4	920	broad.mit.edu	37	chr12	6923959	6923959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacccacctgcttcagggGcagagcctgaccctgacctt	10	16	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:6923959G>A	uc001qqv.1	+	5	653	c.408G>A	c.(406-408)GGG>GGA	p.G136G	CD4_uc009zez.1_Silent_p.G81G|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_5'UTR|CD4_uc010sfk.1_5'UTR|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	CD4 antigen precursor	136	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)				TGCTTCAGGGGCAGAGCCTGA	0.577													A	6923959	G	A	6923959	2	1	98	1	0	0	0	0	0	0	0	1	3014	1190	42	2		2	CD4	12	6923959	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2186642	6923959	126927936	1012	65342											
CLSTN3	9746	broad.mit.edu	37	chr12	7295853	7295853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgtggcttacatgaacaCtctgcgctttgccacgcccg	10	14	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:7295853C>T	uc001qsr.2	+	12	2071	c.1793C>T	c.(1792-1794)ACT>ATT	p.T598I	CLSTN3_uc001qss.2_Missense_Mutation_p.T610I	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	598	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						TACATGAACACTCTGCGCTTT	0.587													T	7295853	C	T	7295853	3	4	98	1	0	0	0	0	1	0	0	0	3563	565	20	4	1839	4	CLSTN3	12	7295853	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	371894	7295853	126556042	1013	65343											
PRB4	5545	broad.mit.edu	37	chr12	11461619	11461619	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccttgtgggggtggtctttCtggctttcctggatgaggtg	16	7	2	1	rs1063752		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:11461619C>A	uc001qzf.1	-	3	332	c.298G>T	c.(298-300)GAA>TAA	p.E100*	PRB4_uc001qzt.2_Nonsense_Mutation_p.E100*	NM_002723	NP_002714	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	121	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|5.		Missing (in allele M and allele S).			extracellular region				ovary(1)	1						GGTGGTCTTTCTGGCTTTCCT	0.617										HNSCC(22;0.051)			A	11461619	C	A	11461619	4	1	98	1	0	0	0	0	0	1	0	0	12445	922	32	5	449	5	PRB4	12	11461619	Nonsense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	4165766	11461619	122390276	1014	65344											
GUCY2C	2984	broad.mit.edu	37	chr12	14796510	14796510	+	Splice_Site	DEL	T	T	-													atttcattcattacagacccTtttttggaggtaaaatggaa							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:14796509_14796509CT>C	uc001rcd.3	-	17	2067	c.1930_splice	c.e17+1	p.D644_splice		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	644	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ATTACAGACCCTTTTTTGGAG	0.388													-	14796510	T	-	14796510	8	5	98	1	0	1	0	1	0	0	1	0	6896	1609	56	0	1337	0	GUCY2C	12	14796510	Splice_Site	DEL	T	TCGA-BR-8591-01A-11D-2394-08	3334891	14796510	119055385	1015	65345											
PLEKHA5	54477	broad.mit.edu	37	chr12	19427545	19427546	+	Frame_Shift_Ins	INS	-	-	A													ccagagatccaaaacaatcaINSaaaaaacaaggaaatgagca							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:19427544_19427545C>CA	uc001reb.3	+	9	1030_1031	c.922_923C>CA	c.(922-924)caafs	p.Q308fs	PLEKHA5_uc010sie.2_Frame_Shift_Ins_p.Q314fs|PLEKHA5_uc001rea.3_Frame_Shift_Ins_p.Q308fs|PLEKHA5_uc009zin.3_Frame_Shift_Ins_p.Q66fs|PLEKHA5_uc010sig.2_Frame_Shift_Ins_p.Q200fs|PLEKHA5_uc010sih.1_Frame_Shift_Ins_p.Q200fs|PLEKHA5_uc021qvy.1_Frame_Shift_Ins_p.Q200fs|PLEKHA5_uc001rec.1_5'UTR	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	308							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CCAAAACAATCAAAAAAACAAG	0.327													A	19427546	-	A	19427545	7	5	98	1	0	1	1	0	0	0	0	0	12059	130	5	0	961	0	PLEKHA5	12	19427545	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	4631035	19427545	114424350	1016	65346											
SLCO1C1	53919	broad.mit.edu	37	chr12	20886040	20886040	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taactgtctcctaccaagggTatgttccctcattaaatagt	6	10	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:20886040T>C	uc001rej.3	+	11	1737	c.1382_splice	c.e11+2	p.G461_splice	SLCO1C1_uc010sii.1_Splice_Site_p.G461_splice|SLCO1C1_uc010sij.1_Splice_Site_p.G412_splice|SLCO1C1_uc009zip.2_Splice_Site_p.G295_splice|SLCO1C1_uc001rei.2_Splice_Site_p.G461_splice|SLCO1C1_uc010sik.1_Splice_Site_p.G343_splice	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,						sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					CTACCAAGGGTATGTTCCCTC	0.363													C	20886040	T	C	20886040	5	2	98	1	0	0	0	0	0	0	1	0	14725	1652	57	3	1418	3	SLCO1C1	12	20886040	Splice_Site	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1458495	20886040	112965855	1017	65347											
BCAT1	586	broad.mit.edu	37	chr12	25054761	25054761	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacttaccttaaaagtccccAccacctcttttgatcctcct	2	16	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:25054761A>G	uc001rgd.3	-	2	507	c.65T>C	c.(64-66)GTG>GCG	p.V22A	BCAT1_uc001rgc.2_Missense_Mutation_p.V21A|BCAT1_uc010six.1_Missense_Mutation_p.V34A|BCAT1_uc010siy.1_Missense_Mutation_p.V22A|BCAT1_uc001rge.3_Intron	NM_005504	NP_005495	P54687	BCAT1_HUMAN	branched chain aminotransferase 1, cytosolic	22					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			lung(1)|breast(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	AAAAGTCCCCACCACCTCTTT	0.428													G	25054761	A	G	25054761	3	3	98	1	0	0	0	0	1	0	0	0	1354	159	6	3	1135	3	BCAT1	12	25054761	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	4168721	25054761	108797134	1018	65348											
PPFIBP1	8496	broad.mit.edu	37	chr12	27840346	27840346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtctctgaaggttgtaaGtgtgctacaccatctcagta	9	9	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:27840346G>A	uc001ric.1	+	24	2671	c.2294G>A	c.(2293-2295)AGT>AAT	p.S765N	PPFIBP1_uc010sjr.1_Missense_Mutation_p.S596N|PPFIBP1_uc001rib.1_Missense_Mutation_p.S759N|PPFIBP1_uc001ria.2_Missense_Mutation_p.S734N|PPFIBP1_uc001rid.1_Missense_Mutation_p.S612N|PPFIBP1_uc001rif.1_Missense_Mutation_p.S272N	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	765	SAM 2.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)					AAGGTTGTAAGTGTGCTACAC	0.478													A	27840346	G	A	27840346	3	1	98	1	0	0	0	0	1	0	0	0	12313	1029	36	4	2408	4	PPFIBP1	12	27840346	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2785585	27840346	106011549	1019	65349											
SFRS2IP	9169	broad.mit.edu	37	chr12	46320453	46320453	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctatgtttgtcagcagaatTtggatcatcagcatctagat	8	7	5	2	rs150900606	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:46320453T>C	uc001rox.2	-	11	3318	c.3031A>G	c.(3031-3033)AAT>GAT	p.N1011D	SFRS2IP_uc001row.2_Missense_Mutation_p.N696D|SFRS2IP_uc001roy.1_Missense_Mutation_p.N1085D	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	1011					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		TCAGCAGAATTTGGATCATCA	0.368													C	46320453	T	C	46320453	3	2	98	1	0	0	0	0	1	0	0	0	14177	1841	64	3	1380	3	SFRS2IP	12	46320453	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	18480107	46320453	87531442	1020	65350											
RAPGEF3	10411	broad.mit.edu	37	chr12	48134734	48134734	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaggctccagtcgtggtcCgtcagctggcctgccaggtc	14	13	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:48134734C>T	uc009zkp.2	-	19	2327	c.1887G>A	c.(1885-1887)ACG>ACA	p.T629T	uc001rpv.2_RNA|RAPGEF3_uc001rpw.2_5'UTR|RAPGEF3_uc001rpx.2_Silent_p.T86T|RAPGEF3_uc010sln.1_Silent_p.T144T|RAPGEF3_uc001rpy.2_RNA|RAPGEF3_uc009zkq.2_Silent_p.T629T|RAPGEF3_uc001rpz.3_Silent_p.T671T	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor 3 isoform	629					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			lung(2)|skin(1)|pancreas(1)	4	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AGTCGTGGTCCGTCAGCTGGC	0.687													T	48134734	C	T	48134734	2	4	98	1	0	0	0	0	0	0	0	1	13045	639	23	1		1	RAPGEF3	12	48134734	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1814281	48134734	85717161	1021	65351											
TMEM106C	79022	broad.mit.edu	37	chr12	48359632	48359632	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catttgcagtaagcaatatgTcctcctgtccatcctgcttt	6	12	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:48359632T>C	uc001rqp.2	+	4	378	c.263T>C	c.(262-264)GTC>GCC	p.V88A	TMEM106C_uc001rqo.2_Missense_Mutation_p.V88A|TMEM106C_uc001rqr.2_Missense_Mutation_p.V88A|TMEM106C_uc001rqq.2_Missense_Mutation_p.V88A	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN	transmembrane protein 106C isoform a	88	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		AAGCAATATGTCCTCCTGTCC	0.463													C	48359632	T	C	48359632	3	2	98	1	0	0	0	0	1	0	0	0	16019	1667	58	3	273	3	TMEM106C	12	48359632	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	224898	48359632	85492263	1022	65352											
ZNF641	121274	broad.mit.edu	37	chr12	48736761	48736761	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtggaaacagatttcaaaAgacagatgttcctctgtccc	8	9	2	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:48736761A>G	uc001rrn.1	-	6	1477	c.1312T>C	c.(1312-1314)TTC>CTC	p.F438L	ZNF641_uc001rro.1_Missense_Mutation_p.F424L|ZNF641_uc010sls.1_Missense_Mutation_p.F415L	NM_152320	NP_689533	Q96N77	ZN641_HUMAN	zinc finger protein 641	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						AGATTTCAAAAGACAGATGTT	0.552													G	48736761	A	G	48736761	3	3	98	1	0	0	0	0	1	0	0	0	18054	72	3	3	8	3	ZNF641	12	48736761	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	377129	48736761	85115134	1023	65353											
MLL2	8085	broad.mit.edu	37	chr12	49434333	49434333	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcaggcactcgggagaaaGggtcggagggcagtgagcga	20	7	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:49434333G>T	uc001rta.3	-	31	7220	c.7220C>A	c.(7219-7221)CCT>CAT	p.P2407H		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2407	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TCGGGAGAAAGGGTCGGAGGG	0.632			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			T	49434333	G	T	49434333	3	4	98	1	0	0	0	0	1	0	0	0	9621	1000	35	5	9489	5	MLL2	12	49434333	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	697572	49434333	84417562	1024	65354											
MLL2	8085	broad.mit.edu	37	chr12	49438221	49438222	+	Frame_Shift_Del	DEL	TC	TC	-													tacgcttgcgttttttgcttTcctcggtctcctctttgcca							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:49438220_49438221TTC>T	uc001rta.4	-	19	5048_5049	c.5048_5049GAA>A	c.(5047-5049)gaafs	p.E1683fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1683					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.F1682L(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GTTTTTTGCTTTCCTCGGTCTC	0.594			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)	OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	49438222	TC	-	49438221	7	5	98	1	0	1	0	1	0	0	0	0	9621	1783	62	0	11705	0	MLL2	12	49438221	Frame_Shift_Del	DEL	TC	TCGA-BR-8591-01A-11D-2394-08	3888	49438221	84413674	1025	65355											
MLL2	8085	broad.mit.edu	37	chr12	49441849	49441849	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgccacataccacacacaTgtcctggggaaacacagaga	9	13	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:49441849T>C	uc001rta.3	-	14	4135	c.4135A>G	c.(4135-4137)ATG>GTG	p.M1379V		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1379	PHD-type 3.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						ACCACACACATGTCCTGGGGA	0.532			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			C	49441849	T	C	49441849	3	2	98	1	0	0	0	0	1	0	0	0	9621	1464	51	3	12642	3	MLL2	12	49441849	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	3628	49441849	84410046	1026	65356											
KCNH3	23416	broad.mit.edu	37	chr12	49948320	49948320	+	Frame_Shift_Del	DEL	G	G	-													tcagctacaacctgggtgctGggggaggctctgcagaggtg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:49948319_49948319TG>T	uc001ruh.1	+	10	2378	c.2118_2118TG>T	c.(2116-2118)gctfs	p.A706fs	KCNH3_uc010smj.1_Frame_Shift_Del_p.A646fs	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	706					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACCTGGGTGCTGGGGGAGGCT	0.657													-	49948320	G	-	49948320	7	5	98	1	0	1	0	1	0	0	0	0	8033	1348	47	0	2161	0	KCNH3	12	49948320	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	506471	49948320	83903575	1027	65357											
LASS5	91012	broad.mit.edu	37	chr12	50524461	50524461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgctctccacatcactgCgatcatccttcgatacctgg	7	15	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:50524461C>T	uc001rwd.3	-	10	1063	c.1046G>A	c.(1045-1047)CGC>CAC	p.R349H	LASS5_uc001rwc.2_Missense_Mutation_p.A317T|LASS5_uc001rwe.3_Missense_Mutation_p.R290H|LASS5_uc001rwf.3_RNA	NM_147190	NP_671723	Q8N5B7	CERS5_HUMAN	LAG1 homolog, ceramide synthase 5	349	Lumenal (Potential).				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity				0						CACATCACTGCGATCATCCTT	0.512													T	50524461	C	T	50524461	3	4	98	1	0	0	0	0	1	0	0	0	8642	768	27	1	136	1	LASS5	12	50524461	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	576141	50524461	83327434	1028	65358											
LARP4	113251	broad.mit.edu	37	chr12	50867242	50867242	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccagtgcctgcagatgaGcagacagaatgcacttctgc	11	12	1	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:50867242G>A	uc001rwp.1	+	14	1734	c.1590G>A	c.(1588-1590)GAG>GAA	p.E530E	LARP4_uc001rwo.1_Silent_p.E536E|LARP4_uc001rwq.1_Silent_p.E459E|LARP4_uc001rwr.1_Silent_p.E459E|LARP4_uc001rws.1_Silent_p.E529E|LARP4_uc009zlr.1_Silent_p.E349E|LARP4_uc001rwt.1_Silent_p.E121E	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	c-Mpl binding protein isoform a	530							nucleotide binding|RNA binding			ovary(1)	1						CTGCAGATGAGCAGACAGAAT	0.338													A	50867242	G	A	50867242	2	1	98	1	0	0	0	0	0	0	0	1	8630	962	34	2		2	LARP4	12	50867242	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	342781	50867242	82984653	1029	65359											
NR4A1	3164	broad.mit.edu	37	chr12	52448164	52448164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaccgagtccgggacccCgtgaccacctggcaagcgac	12	17	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:52448164C>T	uc001rzs.2	+	3	366	c.52C>T	c.(52-54)CGT>TGT	p.R18C	NR4A1_uc010sno.1_Missense_Mutation_p.R31C|NR4A1_uc001rzr.2_Missense_Mutation_p.R18C|NR4A1_uc009zmb.1_Missense_Mutation_p.R18C|NR4A1_uc001rzt.2_Missense_Mutation_p.R18C|NR4A1_uc009zmc.2_5'Flank	NM_002135	NP_002126	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	18					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TCCGGGACCCCGTGACCACCT	0.662													T	52448164	C	T	52448164	3	4	98	1	0	0	0	0	1	0	0	0	10632	652	23	1	54	1	NR4A1	12	52448164	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1580922	52448164	81403731	1030	65360											
KRT82	3888	broad.mit.edu	37	chr12	52799986	52799986	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcatagtgggtgaccatccGgggcatgacagccgagtatg	15	9	0	2	rs72351593		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:52799986G>T	uc001sai.1	-	1	191	c.76C>A	c.(76-78)CGG>AGG	p.R26R		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	keratin 82	26	Head.					keratin filament	protein binding|structural constituent of epidermis			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.193)		GTGACCATCCGGGGCATGACA	0.622													T	52799986	G	T	52799986	2	4	98	1	0	0	0	0	0	0	0	1	8496	1115	39	5		5	KRT82	12	52799986	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	351822	52799986	81051909	1031	65361											
KRT1	3848	broad.mit.edu	37	chr12	53071182	53071182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgacctcagcaatgatgCtgtccaggtcgagactgcgg	12	12	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:53071182C>T	uc001sau.1	-	5	1105	c.1046G>A	c.(1045-1047)AGC>AAC	p.S349N	KRT1_uc001sav.1_Missense_Mutation_p.S349N	NM_006121	NP_006112	P04264	K2C1_HUMAN	keratin 1	349	Rod.|Linker 12.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			ovary(1)|skin(1)	2						AGCAATGATGCTGTCCAGGTC	0.502													T	53071182	C	T	53071182	3	4	98	1	0	0	0	0	1	0	0	0	8447	797	28	2	908	2	KRT1	12	53071182	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	271196	53071182	80780713	1032	65362											
KRT77	374454	broad.mit.edu	37	chr12	53086240	53086240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcagctggcggtaggtGgcgatctccacatccaggga	14	12	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:53086240G>A	uc001saw.2	-	7	1421	c.1392C>T	c.(1390-1392)GCC>GCT	p.A464A	KRT77_uc009zmi.2_Silent_p.A222A	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	keratin 77	464	Rod.|Coil 2.					keratin filament	structural molecule activity			ovary(1)	1						GGCGGTAGGTGGCGATCTCCA	0.642													A	53086240	G	A	53086240	2	1	98	1	0	0	0	0	0	0	0	1	8490	1335	47	4		4	KRT77	12	53086240	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	15058	53086240	80765655	1033	65363											
KRT3	3850	broad.mit.edu	37	chr12	53189360	53189360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaaagccaccaggactgCccaagctgccaggcccacca	10	18	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:53189360C>T	uc001say.2	-	1	533	c.467G>A	c.(466-468)GGC>GAC	p.G156D		NM_057088	NP_476429	P12035	K2C3_HUMAN	keratin 3	156	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity				0						ACCAGGACTGCCCAAGCTGCC	0.348													T	53189360	C	T	53189360	3	4	98	1	0	0	0	0	1	0	0	0	8466	739	26	2	1455	2	KRT3	12	53189360	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	103120	53189360	80662535	1034	65364											
ZNF740	283337	broad.mit.edu	37	chr12	53578783	53578783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaagcaggccgagaatggcGagcgggcaggtagccctgat	17	10	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:53578783G>A	uc001scb.3	+	3	512	c.118G>A	c.(118-120)GAG>AAG	p.E40K		NM_001004304	NP_001004304	Q8NDX6	ZN740_HUMAN	zinc finger protein 740	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|protein binding|zinc ion binding				0						CGAGAATGGCGAGCGGGCAGG	0.602													A	53578783	G	A	53578783	3	1	98	1	0	0	0	0	1	0	0	0	18125	1059	37	1	124	1	ZNF740	12	53578783	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	389423	53578783	80273112	1035	65365											
NFE2	4778	broad.mit.edu	37	chr12	54686726	54686726	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgggccaaggagttgggcAtgagtgagtaggggtactcc	18	6	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:54686726A>G	uc009znk.2	-	2	1064	c.554T>C	c.(553-555)ATG>ACG	p.M185T	NFE2_uc001sfq.2_Missense_Mutation_p.M185T|NFE2_uc001sfr.3_Missense_Mutation_p.M185T|NFE2_uc009znl.2_Missense_Mutation_p.M185T	NM_006163	NP_006154	Q16621	NFE2_HUMAN	nuclear factor, erythroid derived 2 isoform 1	185	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding				0						GGAGTTGGGCATGAGTGAGTA	0.587													G	54686726	A	G	54686726	3	3	98	1	0	0	0	0	1	0	0	0	10366	217	8	3	571	3	NFE2	12	54686726	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1107943	54686726	79165169	1036	65366											
OR10P1	121130	broad.mit.edu	37	chr12	56031396	56031396	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgcaaggtcttctccAcctgctcctcccatctgctc	7	20	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:56031396A>G	uc010spq.1	+	1	721	c.721A>G	c.(721-723)ACC>GCC	p.T241A		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P,	241	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2						GGTCTTCTCCACCTGCTCCTC	0.577													G	56031396	A	G	56031396	3	3	98	1	0	0	0	0	1	0	0	0	10915	159	6	3	723	3	OR10P1	12	56031396	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1344670	56031396	77820499	1037	65367											
METTL7B	196410	broad.mit.edu	37	chr12	56075886	56075886	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatggctgagaacaggcaCctccaatatgagcggtttgt	12	9	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:56075886C>T	uc010spr.1	+	1	557	c.348C>T	c.(346-348)CAC>CAT	p.H116H		NM_152637	NP_689850	Q6UX53	MET7B_HUMAN	methyltransferase like 7B precursor	116							methyltransferase activity				0						AGAACAGGCACCTCCAATATG	0.557													T	56075886	C	T	56075886	2	4	98	1	0	0	0	0	0	0	0	1	9506	506	18	4		4	METTL7B	12	56075886	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	44490	56075886	77776009	1038	65368											
ITGA7	3679	broad.mit.edu	37	chr12	56092301	56092301	+	Frame_Shift_Del	DEL	C	C	-													tcaagtacacatacacagcaCcccccagctcttcttggcgc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:56092300_56092300AC>A	uc001shh.3	-	6	1291	c.1071_1071GT>T	c.(1069-1071)ggtfs	p.G357fs	ITGA7_uc001shg.3_Frame_Shift_Del_p.G353fs|ITGA7_uc010sps.2_Frame_Shift_Del_p.G260fs|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Frame_Shift_Del_p.G240fs	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	397					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CATACACAGCACCCCCCAGCT	0.607													-	56092301	C	-	56092301	7	5	98	1	0	1	0	1	0	0	0	0	7881	507	18	0	2431	0	ITGA7	12	56092301	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	16415	56092301	77759594	1039	65369											
PA2G4	5036	broad.mit.edu	37	chr12	56505302	56505303	+	Frame_Shift_Ins	INS	-	-	A													tcgaaaaacccagaaaaagaINSaaaaaaagaaggtgtgttat					rs149549286	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:56505301_56505302G>GA	uc001sjm.3	+	11	1526_1527	c.1107_1108G>GA	c.(1105-1110)aagaaafs	p.K369fs		NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.	369	Interaction with RNA (By similarity).|Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|rRNA processing|regulation of translation	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			CCCAGAAAAAGAAAAAAAAGAA	0.386													A	56505303	-	A	56505302	7	5	98	1	0	1	1	0	0	0	0	0	11361	247	9	0	1154	0	PA2G4	12	56505302	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	413001	56505302	77346593	1040	65370											
SLC39A5	283375	broad.mit.edu	37	chr12	56630230	56630230	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacacgcaacttggatccGgagaatggcagtgggatggc	15	8	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:56630230G>A	uc010sqj.1	+	9	1253	c.996G>A	c.(994-996)CCG>CCA	p.P332P	SLC39A5_uc010sqk.1_Silent_p.P332P	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	332	Cytoplasmic (Potential).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2						ACTTGGATCCGGAGAATGGCA	0.542													A	56630230	G	A	56630230	2	1	98	1	0	0	0	0	0	0	0	1	14621	1103	39	1		1	SLC39A5	12	56630230	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	124928	56630230	77221665	1041	65371											
IL23A	51561	broad.mit.edu	37	chr12	56732898	56732898	+	Frame_Shift_Del	DEL	G	G	-													ctcagggcagagctgtgcctGggggcagcagccctgcctgg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:56732897_56732897TG>T	uc001sla.3	+	0	235	c.69_69TG>T	c.(67-69)cctfs	p.P23fs		NM_016584	NP_057668	Q9NPF7	IL23A_HUMAN	Homo sapiens interleukin 23, alpha subunit p19 (IL23A), mRNA.	23					defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of osteoclast differentiation|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity			kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						GAGCTGTGCCTGGGGGCAGCA	0.587													-	56732898	G	-	56732898	7	5	98	1	0	1	0	1	0	0	0	0	7675	1348	47	0	72	0	IL23A	12	56732898	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	102668	56732898	77118997	1042	65372											
MARS	4141	broad.mit.edu	37	chr12	57906610	57906610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggacatggcccaggacacGgggatccctgctgacatctg	15	12	1	1	rs149742633		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:57906610G>A	uc001sog.2	+	15	1853	c.1830G>A	c.(1828-1830)ACG>ACA	p.T610T	MARS_uc001sof.1_RNA|MARS_uc010srq.1_Silent_p.T376T|MARS_uc001soh.1_Silent_p.T5T	NM_004990	NP_004981	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	610					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			ovary(3)|central_nervous_system(1)|pancreas(1)	5			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CCCAGGACACGGGGATCCCTG	0.542													A	57906610	G	A	57906610	2	1	98	1	0	0	0	0	0	0	0	1	9316	1103	39	1		1	MARS	12	57906610	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1173712	57906610	75945285	1043	65373											
MBD6	114785	broad.mit.edu	37	chr12	57919556	57919556	+	Frame_Shift_Del	DEL	C	C	-													actgtagtgatgccttaacaCcccctcccctgcccccgagc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:57919555_57919555AC>A	uc001soj.1	+	5	1028	c.804_804AC>A	c.(802-804)acafs	p.T268fs	MBD6_uc001sok.1_Frame_Shift_Del_p.T135fs|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	268	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ATGCCTTAACACCCCCTCCCC	0.642													-	57919556	C	-	57919556	7	5	98	1	0	1	0	1	0	0	0	0	9348	507	18	0	819	0	MBD6	12	57919556	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	12946	57919556	75932339	1044	65374											
AVPR1A	552	broad.mit.edu	37	chr12	63541343	63541343	+	Frame_Shift_Del	DEL	A	A	-													tcttgaaggagatggccactAaaaaacatgtatatccaggg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:63541342_63541342TA>T	uc001sro.1	-	1	3028	c.1054_1054TA>A	c.(1054-1056)agtfs	p.S352fs		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	352					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	AGATGGCCACTAAAAAACATG	0.398													-	63541343	A	-	63541343	7	5	98	1	0	1	0	1	0	0	0	0	1231	359	13	0	207	0	AVPR1A	12	63541343	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	5621787	63541343	70310552	1045	65375											
WIF1	11197	broad.mit.edu	37	chr12	65456301	65456301	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctagtcctggagggcaaatAcattttccagggtagaaaca	10	8	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:65456301A>G	uc001ssk.2	-	7	931	c.786T>C	c.(784-786)TGT>TGC	p.C262C		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1 precursor	262	EGF-like 3.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			ovary(2)|lung(1)|skin(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GAGGGCAAATACATTTTCCAG	0.373			T	HMGA2	pleomorphic salivary gland adenoma								G	65456301	A	G	65456301	2	3	98	1	0	0	0	0	0	0	0	1	17363	389	14	3		3	WIF1	12	65456301	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1914958	65456301	68395594	1046	65376											
TMBIM4	51643	broad.mit.edu	37	chr12	66547156	66547156	+	Frame_Shift_Del	DEL	A	A	-													tccgtacagactcaaagtatAaaaaaactgttgaagtcact							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:66547155_66547155TA>T	uc009zqr.3	-	2	388	c.312_312TA>A	c.(310-312)ttafs	p.L104fs	LLPH_uc010ssx.2_Non-coding_Transcript|TMBIM4_uc001stc.3_Frame_Shift_Del_p.L57fs|TMBIM4_uc001std.3_Frame_Shift_Del_p.L26fs|TMBIM4_uc001stf.3_Frame_Shift_Del_p.L57fs|TMBIM4_uc009zqs.3_Frame_Shift_Del_p.L57fs	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	Homo sapiens transmembrane BAX inhibitor motif containing 4 (TMBIM4), mRNA.	57						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		ACTCAAAGTATAAAAAAACTG	0.318													-	66547156	A	-	66547156	7	5	98	1	0	1	0	1	0	0	0	0	15979	372	13	0	570	0	TMBIM4	12	66547156	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	1090855	66547156	67304739	1047	65377											
IRAK3	11213	broad.mit.edu	37	chr12	66641621	66641621	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgatgaaagccagaataaCaatttactaccttctgatga	7	7	1	5			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:66641621C>A	uc001sth.2	+	12	1563	c.1461C>A	c.(1459-1461)AAC>AAA	p.N487K	IRAK3_uc010ssy.1_Missense_Mutation_p.N426K	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	487					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8				GBM - Glioblastoma multiforme(28;0.0203)		GCCAGAATAACAATTTACTAC	0.428													A	66641621	C	A	66641621	3	1	98	1	0	0	0	0	1	0	0	0	7824	477	17	5	1507	5	IRAK3	12	66641621	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	94465	66641621	67210274	1048	65378											
HELB	92797	broad.mit.edu	37	chr12	66709022	66709022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatctttttttcttttagGtgacattagacagttaccca	6	7	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:66709022G>A	uc001sti.2	+	6	1887	c.1859G>A	c.(1858-1860)GGT>GAT	p.G620D	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	620					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TTTCTTTTAGGTGACATTAGA	0.313													A	66709022	G	A	66709022	3	1	98	1	0	0	0	0	1	0	0	0	7045	1275	44	4	1881	4	HELB	12	66709022	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	67401	66709022	67142873	1049	65379											
RAP1B	5908	broad.mit.edu	37	chr12	69044187	69044187	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttttttttcagactgtacAatttgttcaaggaatttttg	6	4	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:69044187A>G	uc001sub.2	+	3	228	c.65A>G	c.(64-66)CAA>CGA	p.Q22R	RAP1B_uc010ste.1_Intron|RAP1B_uc001suc.2_Missense_Mutation_p.Q22R|RAP1B_uc010stf.1_Missense_Mutation_p.Q22R|RAP1B_uc010stg.1_Intron|RAP1B_uc010sth.1_Intron|RAP1B_uc010sti.1_Missense_Mutation_p.Q22R	NM_001089704	NP_001083173	P61224	RAP1B_HUMAN	SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family;	22					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding				0	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		CAGACTGTACAATTTGTTCAA	0.279													G	69044187	A	G	69044187	3	3	98	1	0	0	0	0	1	0	0	0	13036	130	5	3	71	3	RAP1B	12	69044187	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	2335165	69044187	64807708	1050	65380											
PTPRB	5787	broad.mit.edu	37	chr12	70928615	70928615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagcaagctaacatacacCgcatatcttaaactcccgga	5	13	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:70928615C>T	uc001swb.3	-	28	5578	c.5548G>A	c.(5548-5550)GGT>AGT	p.G1850S	uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.G1760S|PTPRB_uc010stp.1_Missense_Mutation_p.G1760S|PTPRB_uc001swc.3_Missense_Mutation_p.G2068S|PTPRB_uc001swa.3_Missense_Mutation_p.G1980S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1850	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TAACATACACCGCATATCTTA	0.522													T	70928615	C	T	70928615	3	4	98	1	0	0	0	0	1	0	0	0	12796	652	23	1	465	1	PTPRB	12	70928615	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1884428	70928615	62923280	1051	65381											
PTPRR	5801	broad.mit.edu	37	chr12	71078009	71078009	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgttgatcatggggccctgCgtggcaatgaaggctttctc	14	9	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:71078009C>A	uc001swi.1	-	10	1811	c.1395G>T	c.(1393-1395)ACG>ACT	p.T465T	PTPRR_uc001swh.1_Silent_p.T220T|PTPRR_uc009zrs.2_Silent_p.T314T|PTPRR_uc010stq.1_Silent_p.T353T|PTPRR_uc010str.1_Silent_p.T314T	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	465	Tyrosine-protein phosphatase.|Cytoplasmic (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TGGGGCCCTGCGTGGCAATGA	0.433													A	71078009	C	A	71078009	2	1	98	1	0	0	0	0	0	0	0	1	12810	755	27	5		5	PTPRR	12	71078009	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	149394	71078009	62773886	1052	65382											
LGR5	8549	broad.mit.edu	37	chr12	71977666	71977666	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacttttggcagctttgcaCgacatggtgcctggtgggag	14	9	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:71977666C>T	uc001swl.2	+	18	1924	c.1876C>T	c.(1876-1878)CGA>TGA	p.R626*	LGR5_uc001swm.2_Nonsense_Mutation_p.R602*|LGR5_uc001swn.1_RNA	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	626	Extracellular (Potential).					integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						CAGCTTTGCACGACATGGTGC	0.502													T	71977666	C	T	71977666	4	4	98	1	0	0	0	0	0	1	0	0	8757	528	19	1	1946	1	LGR5	12	71977666	Nonsense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	899657	71977666	61874229	1053	65383											
TRHDE	29953	broad.mit.edu	37	chr12	72863586	72863586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctgctatggagaactgggGactaagtatttttgtggaac	13	5	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:72863586G>A	uc001sxa.2	+	4	1259	c.1229G>A	c.(1228-1230)GGA>GAA	p.G410E		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	410	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						GAGAACTGGGGACTAAGTATT	0.378													A	72863586	G	A	72863586	3	1	98	1	0	0	0	0	1	0	0	0	16476	1174	41	4	1243	4	TRHDE	12	72863586	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	885920	72863586	60988309	1054	65384											
NAV3	89795	broad.mit.edu	37	chr12	78511860	78511860	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgagacctgggatagtccTgaggaactgaaaaaaccaga	12	8	0	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:78511860T>C	uc001syp.2	+	14	2996	c.2823T>C	c.(2821-2823)CCT>CCC	p.P941P	NAV3_uc001syo.2_Silent_p.P941P|NAV3_uc010sub.1_Silent_p.P441P|NAV3_uc009zsf.2_5'UTR	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	941						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						GGGATAGTCCTGAGGAACTGA	0.438										HNSCC(70;0.22)			C	78511860	T	C	78511860	2	2	98	1	0	0	0	0	0	0	0	1	10185	1567	55	3		3	NAV3	12	78511860	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	5648274	78511860	55340035	1055	65385											
PPFIA2	8499	broad.mit.edu	37	chr12	81768483	81768483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtttcagcctttctcatgGtctgctgcaacttttgttca	8	10	4	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:81768483G>A	uc001szo.1	-	11	1357	c.1196C>T	c.(1195-1197)ACC>ATC	p.T399I	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	325										ovary(3)|lung(2)|pancreas(1)	6						CTTTCTCATGGTCTGCTGCAA	0.458													A	81768483	G	A	81768483	3	1	98	1	0	0	0	0	1	0	0	0	12310	1261	44	4	2665	4	PPFIA2	12	81768483	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3256623	81768483	52083412	1056	65386											
C12orf12	196477	broad.mit.edu	37	chr12	91348379	91348379	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcggtgcggtctattgtaCgctggagcacccgggcgcct	14	12	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:91348379C>T	uc001tbj.2	-	1	575	c.141G>A	c.(139-141)GCG>GCA	p.A47A		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	47										central_nervous_system(1)|pancreas(1)	2						GTCTATTGTACGCTGGAGCAC	0.532													T	91348379	C	T	91348379	2	4	98	1	0	0	0	0	0	0	0	1	1676	523	19	1		1	C12orf12	12	91348379	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	9579896	91348379	42503516	1057	65387											
PLXNC1	10154	broad.mit.edu	37	chr12	94648658	94648658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagctccggaaagagataCgtgacggtaggctccaaaat	13	9	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:94648658C>T	uc001tdc.2	+	16	3226	c.2977C>T	c.(2977-2979)CGT>TGT	p.R993C	PLXNC1_uc010sut.1_Missense_Mutation_p.R40C	NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	993	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						GAAAGAGATACGTGACGGTAG	0.433													T	94648658	C	T	94648658	3	4	98	1	0	0	0	0	1	0	0	0	12126	536	19	1	3039	1	PLXNC1	12	94648658	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3300279	94648658	39203237	1058	65388											
NDUFA12	55967	broad.mit.edu	37	chr12	95396585	95396585	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccactaatgtaccaaccttCgcatcatttgtcctgtgaat	5	13	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:95396585C>T	uc001tdl.2	-	2	154	c.99G>A	c.(97-99)GCG>GCA	p.A33A		NM_018838	NP_061326	Q9UI09	NDUAC_HUMAN	13kDa differentiation-associated protein	33					respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)	TACCAACCTTCGCATCATTTG	0.323													T	95396585	C	T	95396585	2	4	98	1	0	0	0	0	0	0	0	1	10262	871	31	1		1	NDUFA12	12	95396585	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	747927	95396585	38455310	1059	65389											
NR2C1	7181	broad.mit.edu	37	chr12	95442883	95442883	+	Frame_Shift_Del	DEL	T	T	-													tcgctgagaagtggcccctcTttttcggtgtaatttatgct							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:95442882_95442882CT>C	uc001tdm.4	-	8	1349	c.1093_1093AG>G	c.(1093-1095)gagfs	p.E365fs	NR2C1_uc010suu.1_Frame_Shift_Del_p.E365fs|NR2C1_uc001tdn.4_Frame_Shift_Del_p.E365fs|NR2C1_uc001tdo.4_Frame_Shift_Del_p.E365fs	NM_003297	NP_003288	P13056	NR2C1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.	365					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						AGTGGCCCCTCTTTTTCGGTG	0.423													-	95442883	T	-	95442883	7	5	98	1	0	1	0	1	0	0	0	0	10622	1606	56	0	821	0	NR2C1	12	95442883	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	46298	95442883	38409012	1060	65390											
NTN4	59277	broad.mit.edu	37	chr12	96181193	96181193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaagccaaatttcccatccGagggttgcaggctttttcac	8	12	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:96181193G>A	uc001tei.2	-	2	558	c.109C>T	c.(109-111)CGG>TGG	p.R37W	NTN4_uc009ztf.2_Missense_Mutation_p.R37W|NTN4_uc009ztg.2_5'UTR	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	netrin 4 precursor	37	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				upper_aerodigestive_tract(1)|ovary(1)	2						TTTCCCATCCGAGGGTTGCAG	0.507													A	96181193	G	A	96181193	3	1	98	1	0	0	0	0	1	0	0	0	10702	1057	37	1	1813	1	NTN4	12	96181193	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	738310	96181193	37670702	1061	65391											
ASCL1	429	broad.mit.edu	37	chr12	103352643	103352643	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaactccatggccggctcGccggtctcatcctactcgtc	9	16	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:103352643G>A	uc001tjr.3	+	1	1192	c.621G>A	c.(619-621)TCG>TCA	p.S207S		NM_004316	NP_004307	P50553	ASCL1_HUMAN	achaete-scute complex homolog 1	207					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0						TGGCCGGCTCGCCGGTCTCAT	0.647													A	103352643	G	A	103352643	2	1	98	1	0	0	0	0	0	0	0	1	1034	1074	38	1		1	ASCL1	12	103352643	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	7171450	103352643	30499252	1062	65392											
EID3	493861	broad.mit.edu	37	chr12	104697811	104697811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggagctcaccgctgaCgaggagaagtgccgcagcat	13	13	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:104697811C>T	uc001tkw.2	+	1	263	c.99C>T	c.(97-99)GAC>GAT	p.D33D	TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation	33					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0						TCACCGCTGACGAGGAGAAGT	0.622													T	104697811	C	T	104697811	2	4	98	1	0	0	0	0	0	0	0	1	4989	535	19	1		1	EID3	12	104697811	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1345168	104697811	29154084	1063	65393											
TCP11L2	255394	broad.mit.edu	37	chr12	106729528	106729528	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatacctccaagccaagccTgagccctactttggtgctaa	7	13	0	1	rs139428803	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:106729528T>C	uc001tln.2	+	7	1058	c.884T>C	c.(883-885)CTG>CCG	p.L295P		NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	295										ovary(3)	3						AAGCCAAGCCTGAGCCCTACT	0.388													C	106729528	T	C	106729528	3	2	98	1	0	0	0	0	1	0	0	0	15712	1580	55	3	906	3	TCP11L2	12	106729528	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	2031717	106729528	27122367	1064	65394											
FICD	11153	broad.mit.edu	37	chr12	108912982	108912982	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccctttcattgatggcaaCgggaggacctcccgtctgct	10	14	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:108912982C>T	uc001tmx.1	+	3	1253	c.1107C>T	c.(1105-1107)AAC>AAT	p.N369N		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Huntingtin interacting protein E	369	Fido.				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity				0						TTGATGGCAACGGGAGGACCT	0.562													T	108912982	C	T	108912982	2	4	98	1	0	0	0	0	0	0	0	1	5887	535	19	1		1	FICD	12	108912982	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2183454	108912982	24938913	1065	65395											
SART3	9733	broad.mit.edu	37	chr12	108919341	108919341	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggagaaaggcaggcctgAgatgaacagcttgtgtttct	13	7	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:108919341A>G	uc001tmz.1	-	17	2651	c.2416T>C	c.(2416-2418)TCA>CCA	p.S806P	SART3_uc001tmy.1_Missense_Mutation_p.S332P|SART3_uc009zux.1_Missense_Mutation_p.S418P|SART3_uc010swx.1_Missense_Mutation_p.S770P	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	806	RRM 2.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						GGCAGGCCTGAGATGAACAGC	0.498									Porokeratosis				G	108919341	A	G	108919341	3	3	98	1	0	0	0	0	1	0	0	0	13847	304	11	3	487	3	SART3	12	108919341	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	6359	108919341	24932554	1066	65396											
SART3	9733	broad.mit.edu	37	chr12	108932768	108932768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagttctcgaccagggcgCgctcaaagatcaactgaatg	12	11	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:108932768C>T	uc001tmz.1	-	7	1239	c.1004G>A	c.(1003-1005)CGC>CAC	p.R335H	SART3_uc001tmy.1_5'UTR|SART3_uc009zux.1_5'UTR|SART3_uc010swx.1_Missense_Mutation_p.R335H|SART3_uc010swy.1_Missense_Mutation_p.R221H|SART3_uc010swz.1_Missense_Mutation_p.R335H|SART3_uc001tna.1_RNA	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	335	HAT 5.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						GACCAGGGCGCGCTCAAAGAT	0.438									Porokeratosis				T	108932768	C	T	108932768	3	4	98	1	0	0	0	0	1	0	0	0	13847	768	27	1	1939	1	SART3	12	108932768	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	13427	108932768	24919127	1067	65397											
USP30	84749	broad.mit.edu	37	chr12	109523603	109523603	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaactagcaatcagtggcTgtgggtctccgatgacactg	11	11	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:109523603T>C	uc010sxi.1	+	13	1525	c.1421T>C	c.(1420-1422)CTG>CCG	p.L474P	USP30_uc001tnu.3_Missense_Mutation_p.L443P|USP30_uc001tnw.3_Missense_Mutation_p.L191P	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	474	Cytoplasmic (Potential).				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(1)	1						AATCAGTGGCTGTGGGTCTCC	0.587													C	109523603	T	C	109523603	3	2	98	1	0	0	0	0	1	0	0	0	17058	1580	55	3	1471	3	USP30	12	109523603	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	590835	109523603	24328292	1068	65398											
PPTC7	160760	broad.mit.edu	37	chr12	110983821	110983821	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggaagcctgaatcgcccaGgtttgctgtgtgtaagcggt	14	9	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:110983821G>T	uc001trh.1	-	3	694	c.466C>A	c.(466-468)CTG>ATG	p.L156M		NM_139283	NP_644812	Q8NI37	PPTC7_HUMAN	T-cell activation protein phosphatase 2C	156	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity				0						GAATCGCCCAGGTTTGCTGTG	0.502													T	110983821	G	T	110983821	3	4	98	1	0	0	0	0	1	0	0	0	12413	991	35	5	464	5	PPTC7	12	110983821	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1460218	110983821	22868074	1069	65399											
ALDH2	217	broad.mit.edu	37	chr12	112219773	112219773	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaggaaaacattccccAccgtcaatccgtccactgga	7	15	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:112219773A>G	uc001tst.2	+	2	607	c.166A>G	c.(166-168)ACC>GCC	p.T56A	ALDH2_uc010syi.1_Missense_Mutation_p.T56A|ALDH2_uc009zvy.2_Missense_Mutation_p.T56A	NM_000690	NP_000681	P05091	ALDH2_HUMAN	mitochondrial aldehyde dehydrogenase 2	56					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase|electron carrier activity			skin(2)|ovary(1)|central_nervous_system(1)	4					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	AACATTCCCCACCGTCAATCC	0.483			T	HMGA2	leiomyoma								G	112219773	A	G	112219773	3	3	98	1	0	0	0	0	1	0	0	0	496	159	6	3	172	3	ALDH2	12	112219773	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1235952	112219773	21632122	1070	65400											
C12orf51	283450	broad.mit.edu	37	chr12	112638474	112638474	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggttggtattgtccagtgtGaccagcccattggtggcagt	14	8	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:112638474G>A	uc009zwc.2	-	48	7287	c.7269C>T	c.(7267-7269)GTC>GTT	p.V2423V		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						TGTCCAGTGTGACCAGCCCAT	0.512													A	112638474	G	A	112638474	2	1	98	1	0	0	0	0	0	0	0	1	1696	1277	45	4		4	C12orf51	12	112638474	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	418701	112638474	21213421	1071	65401											
OAS3	4940	broad.mit.edu	37	chr12	113403603	113403603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgctcagatgccgacctcGtggtgttcctcagctgcttc	11	15	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:113403603G>A	uc001tug.2	+	12	2545	c.2458G>A	c.(2458-2460)GTG>ATG	p.V820M		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	820	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1						TGCCGACCTCGTGGTGTTCCT	0.602													A	113403603	G	A	113403603	3	1	98	1	0	0	0	0	1	0	0	0	10801	1145	40	1	2504	1	OAS3	12	113403603	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	765129	113403603	20448292	1072	65402											
DTX1	1840	broad.mit.edu	37	chr12	113533182	113533182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgcaagaggattccctcGccactgctatctacccaaca	6	17	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:113533182G>A	uc001tuk.1	+	8	1937	c.1601G>A	c.(1600-1602)CGC>CAC	p.R534H		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	534					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						GGATTCCCTCGCCACTGCTAT	0.612													A	113533182	G	A	113533182	3	1	98	1	0	0	0	0	1	0	0	0	4793	1087	38	1	1631	1	DTX1	12	113533182	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	129579	113533182	20318713	1073	65403											
DDX54	79039	broad.mit.edu	37	chr12	113600936	113600936	+	Splice_Site	DEL	C	C	-													aggacccagccagccactcaCccccgctcgctgtcaaagtc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:113600936delC	uc001tup.2	-	16	2109	c.2081_splice	c.e16+1	p.G694_splice	DDX54_uc001tuq.3_Splice_Site_p.G694_splice	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54						estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						CAGCCACTCACCCCCGCTCGC	0.647													-	113600936	C	-	113600936	8	5	98	1	0	1	0	1	0	0	1	0	4372	521	18	0	586	0	DDX54	12	113600936	Splice_Site	DEL	C	TCGA-BR-8591-01A-11D-2394-08	67754	113600936	20250959	1074	65404											
DDX54	79039	broad.mit.edu	37	chr12	113617008	113617008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggcgagaggatgagggcGcgggccccggtctgggcact	20	11	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:113617008G>A	uc001tup.2	-	4	532	c.504C>T	c.(502-504)CGC>CGT	p.R168R	DDX54_uc001tuq.3_Silent_p.R168R	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	168	Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						GGATGAGGGCGCGGGCCCCGG	0.652													A	113617008	G	A	113617008	2	1	98	1	0	0	0	0	0	0	0	1	4372	1074	38	1		1	DDX54	12	113617008	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	16072	113617008	20234887	1075	65405											
FBXO21	23014	broad.mit.edu	37	chr12	117624320	117624320	+	Frame_Shift_Del	DEL	A	A	-													atacacaccagttcatcctcAaaaaaaatctctggtccttc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:117624319_117624319CA>C	uc001twk.3	-	2	472	c.433_433TG>G	c.(433-435)gagfs	p.E145fs	FBXO21_uc001twj.3_Frame_Shift_Del_p.E145fs|FBXO21_uc009zwq.3_Frame_Shift_Del_p.E145fs	NM_033624	NP_296373	O94952	FBX21_HUMAN	Homo sapiens F-box protein 21 (FBXO21), transcript variant 1, mRNA.	145					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.F144fs*9(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		AGTTCATCCTCAAAAAAAATC	0.368													-	117624320	A	-	117624320	7	5	98	1	0	1	0	1	0	0	0	0	5733	127	5	0	1494	0	FBXO21	12	117624320	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	4007312	117624320	16227575	1076	65406											
NOS1	4842	broad.mit.edu	37	chr12	117768386	117768386	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcctcctgcccatcatcGtaggcatgctgaggcccatt	9	16	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:117768386G>A	uc001twm.1	-	2	1175	c.489C>T	c.(487-489)TAC>TAT	p.Y163Y		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	163	Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCCATCATCGTAGGCATGCT	0.682													A	117768386	G	A	117768386	2	1	98	1	0	0	0	0	0	0	0	1	10541	1140	40	1		1	NOS1	12	117768386	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	144066	117768386	16083509	1077	65407											
KSR2	283455	broad.mit.edu	37	chr12	117962957	117962957	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaagctccgggccgagAggagggacaggttcatctcc	17	10	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:117962957A>G	uc001two.2	-	14	1887	c.1832T>C	c.(1831-1833)CTC>CCC	p.L611P		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	640					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGGGCCGAGAGGAGGGACAG	0.577													G	117962957	A	G	117962957	3	3	98	1	0	0	0	0	1	0	0	0	8582	304	11	3	961	3	KSR2	12	117962957	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	194571	117962957	15888938	1078	65408											
PRKAB1	5564	broad.mit.edu	37	chr12	120110201	120110201	+	Frame_Shift_Del	DEL	G	G	-													ccaacggtgtttcgatggacGgggggcggaaaggaagttta							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:120110200_120110200CG>C	uc009zwu.3	+	2	357	c.254_254CG>C	c.(253-255)acgfs	p.T85fs	PRKAB1_uc001txg.3_Frame_Shift_Del_p.T85fs	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN	Homo sapiens protein kinase, AMP-activated, beta 1 non-catalytic subunit (PRKAB1), mRNA.	85					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	TTTCGATGGACGGGGGGCGGA	0.517													-	120110201	G	-	120110201	7	5	98	1	0	1	0	1	0	0	0	0	12495	1103	39	0	261	0	PRKAB1	12	120110201	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	2147244	120110201	13741694	1079	65409											
P2RX4	5025	broad.mit.edu	37	chr12	121655008	121655008	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccgttacgaccaaggtcaAgggcgtggctgtgaccaaca	12	12	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:121655008A>G	uc001tzr.2	+	2	510	c.206A>G	c.(205-207)AAG>AGG	p.K69R	P2RX4_uc010szr.1_RNA|P2RX4_uc010szs.1_RNA|P2RX4_uc009zxc.2_Missense_Mutation_p.K69R|P2RX4_uc001tzs.2_Missense_Mutation_p.K85R|P2RX4_uc009zxb.2_RNA|P2RX4_uc010szt.1_Intron	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	purinergic receptor P2X4	69	Extracellular (Potential).				endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACCAAGGTCAAGGGCGTGGCT	0.498													G	121655008	A	G	121655008	3	3	98	1	0	0	0	0	1	0	0	0	11342	72	3	3	212	3	P2RX4	12	121655008	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1544807	121655008	12196887	1080	65410											
KNTC1	9735	broad.mit.edu	37	chr12	123087723	123087723	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaccatcgaatcctgcttActctctatagtcaacccaga	5	14	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:123087723A>G	uc001ucv.2	+	48	5197	c.5034A>G	c.(5032-5034)TTA>TTG	p.L1678L	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1678					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AATCCTGCTTACTCTCTATAG	0.408													G	123087723	A	G	123087723	2	3	98	1	0	0	0	0	0	0	0	1	8428	388	14	3		3	KNTC1	12	123087723	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1432715	123087723	10764172	1081	65411											
HIP1R	9026	broad.mit.edu	37	chr12	123333368	123333368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgactgccagcggtaccGcagcaacatccgggagattg	13	12	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:123333368G>A	uc001udj.1	+	4	385	c.326G>A	c.(325-327)CGC>CAC	p.R109H	HIP1R_uc001udg.1_Missense_Mutation_p.R97H|HIP1R_uc001udi.1_Missense_Mutation_p.R109H|HIP1R_uc001udh.2_Missense_Mutation_p.R109H	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	109	ENTH.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CAGCGGTACCGCAGCAACATC	0.642													A	123333368	G	A	123333368	3	1	98	1	0	0	0	0	1	0	0	0	7115	1087	38	1	340	1	HIP1R	12	123333368	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	245645	123333368	10518527	1082	65412											
PITPNM2	57605	broad.mit.edu	37	chr12	123472815	123472815	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggtccgcttgcgctgccacTtctcccttggctttgagggg	14	13	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:123472815T>A	uc001uej.1	-	19	3102	c.2963A>T	c.(2962-2964)AAG>ATG	p.K988M	PITPNM2_uc001uek.1_Missense_Mutation_p.K982M	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	988					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GCGCTGCCACTTCTCCCTTGG	0.552													A	123472815	T	A	123472815	3	1	98	1	0	0	0	0	1	0	0	0	11951	1609	56	5	1114	5	PITPNM2	12	123472815	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	139447	123472815	10379080	1083	65413											
DNAH10	196385	broad.mit.edu	37	chr12	124325995	124325995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgcgggctgaagggcgcGtggaggactggatgacggca	19	8	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:124325995G>A	uc001uft.3	+	29	4934	c.4909G>A	c.(4909-4911)GTG>ATG	p.V1637M		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1637	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAAGGGCGCGTGGAGGACTG	0.453													A	124325995	G	A	124325995	3	1	98	1	0	0	0	0	1	0	0	0	4598	1145	40	1	5023	1	DNAH10	12	124325995	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	853180	124325995	9525900	1084	65414											
DNAH10	196385	broad.mit.edu	37	chr12	124419227	124419227	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggatatagaaaaaggatgtCttatcaagagcaaacccaag	10	6	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:124419227C>A	uc001uft.3	+	77	13208	c.13183C>A	c.(13183-13185)CTT>ATT	p.L4395I	DNAH10_uc001ufu.3_Missense_Mutation_p.L308I	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4395					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAAAGGATGTCTTATCAAGAG	0.522													A	124419227	C	A	124419227	3	1	98	1	0	0	0	0	1	0	0	0	4598	913	32	5	13489	5	DNAH10	12	124419227	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	93232	124419227	9432668	1085	65415											
NCOR2	9612	broad.mit.edu	37	chr12	124824632	124824632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagcacactgggtctctgCtggagggcatcctgggtccg	15	11	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:124824632C>T	uc010tay.1	-	39	5793	c.5637G>A	c.(5635-5637)CAG>CAA	p.Q1879Q	NCOR2_uc010taz.1_Silent_p.Q1863Q|NCOR2_uc010tax.1_5'UTR	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	1880					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGGGTCTCTGCTGGAGGGCAT	0.527													T	124824632	C	T	124824632	2	4	98	1	0	0	0	0	0	0	0	1	10236	796	28	2		2	NCOR2	12	124824632	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	405405	124824632	9027263	1086	65416											
DHX37	57647	broad.mit.edu	37	chr12	125436953	125436953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggccgcaccttgtaggcGttcctccacttgtcctccag	12	15	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:125436953G>A	uc001ugy.2	-	21	2958	c.2859C>T	c.(2857-2859)AAC>AAT	p.N953N	DHX37_uc001ugz.1_Silent_p.N40N	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	953							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCTTGTAGGCGTTCCTCCACT	0.692													A	125436953	G	A	125436953	2	1	98	1	0	0	0	0	0	0	0	1	4510	1136	40	1		1	DHX37	12	125436953	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	612321	125436953	8414942	1087	65417											
TMEM132D	121256	broad.mit.edu	37	chr12	130184667	130184667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccacgggggtcccctccGgctggtccacggacttcctc	12	18	0	0	rs146143180		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:130184667G>A	uc009zyl.1	-	2	984	c.656C>T	c.(655-657)CCG>CTG	p.P219L		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	219	Extracellular (Potential).					integral to membrane		p.P219L(1)		ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGTCCCCTCCGGCTGGTCCAC	0.682													A	130184667	G	A	130184667	3	1	98	1	0	0	0	0	1	0	0	0	16044	1116	39	1	2675	1	TMEM132D	12	130184667	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	4747714	130184667	3667228	1088	65418											
MMP17	4326	broad.mit.edu	37	chr12	132325159	132325159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccactggggcacgacaCggtgcgtgcactcatgtact	11	14	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:132325159C>T	uc001ujc.1	+	4	563	c.464C>T	c.(463-465)ACG>ATG	p.T155M	MMP17_uc001ujd.1_Missense_Mutation_p.T71M	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	155					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		GGGCACGACACGGTGCGTGCA	0.667													T	132325159	C	T	132325159	3	4	98	1	0	0	0	0	1	0	0	0	9656	536	19	1	478	1	MMP17	12	132325159	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2140492	132325159	1526736	1089	65419											
EP400	57634	broad.mit.edu	37	chr12	132508377	132508377	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcacaggaccacagagccgCgtggctcagccagagacgcc	12	15	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:132508377C>T	uc001ujn.2	+	23	4781	c.4746C>T	c.(4744-4746)CGC>CGT	p.R1582R	EP400_uc001ujl.2_Silent_p.R1581R|EP400_uc001ujm.2_Silent_p.R1501R	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1618					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CACAGAGCCGCGTGGCTCAGC	0.567													T	132508377	C	T	132508377	2	4	98	1	0	0	0	0	0	0	0	1	5149	755	27	1		1	EP400	12	132508377	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	183218	132508377	1343518	1090	65420											
ANKLE2	23141	broad.mit.edu	37	chr12	133312082	133312082	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggagttttccagagcTtgcgaaaatcttctgcctat	11	8	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:133312082T>G	uc001ukx.2	-	9	1677	c.1610A>C	c.(1609-1611)AAG>ACG	p.K537T	ANKLE2_uc009zyw.1_5'Flank|ANKLE2_uc001uky.3_Missense_Mutation_p.K475T	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	537						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TTTCCAGAGCTTGCGAAAATC	0.517													G	133312082	T	G	133312082	3	3	98	1	0	0	0	0	1	0	0	0	633	1609	56	5	1226	5	ANKLE2	12	133312082	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	803705	133312082	539813	1091	65421											
ZMYM2	7750	broad.mit.edu	37	chr13	20635264	20635264	+	Frame_Shift_Del	DEL	A	A	-													cctgcagcaattgaggagctAaaaagcaaggtttcttcaga							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:20635264delA	uc001umr.2	+	18	3109	c.2811delA	c.(2809-2811)CTAfs	p.L937fs	ZMYM2_uc001ums.2_Frame_Shift_Del_p.L937fs|ZMYM2_uc001umt.2_Frame_Shift_Del_p.L937fs|ZMYM2_uc010tco.1_RNA|ZMYM2_uc001umv.2_Frame_Shift_Del_p.L317fs|ZMYM2_uc001umw.2_Frame_Shift_Del_p.L390fs	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	937					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TTGAGGAGCTAAAAAGCAAGG	0.423													-	20635264	A	-	20635264	7	5	98	1	0	1	0	1	0	0	0	0	17697	349	13	0	2869	0	ZMYM2	13	20635264	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08		20635264	94534614	1092	65422											
GJA3	2700	broad.mit.edu	37	chr13	20716880	20716880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgttggggcagggccagCggtcgcagcggtagagcggc	20	11	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:20716880C>T	uc001umx.1	-	2	720	c.548G>A	c.(547-549)CGC>CAC	p.R183H		NM_021954	NP_068773	Q9Y6H8	CXA3_HUMAN	connexin 46	183	Extracellular (Potential).				cell-cell signaling|visual perception	connexon complex|integral to membrane				pancreas(1)	1		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		GCAGGGCCAGCGGTCGCAGCG	0.602													T	20716880	C	T	20716880	3	4	98	1	0	0	0	0	1	0	0	0	6402	768	27	1	763	1	GJA3	13	20716880	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	81616	20716880	94452998	1093	65423											
GJB6	10804	broad.mit.edu	37	chr13	20797122	20797122	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggtcaatcccacatttcaaCacccagggcaggtggtaccc	10	14	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:20797122C>G	uc001umz.3	-	3	1051	c.498G>C	c.(496-498)GTG>GTC	p.V166V	GJB6_uc001unc.3_Silent_p.V166V|GJB6_uc001una.3_Silent_p.V166V|GJB6_uc001und.3_Silent_p.V166V|GJB6_uc001unb.3_Silent_p.V166V	NM_006783	NP_006774	O95452	CXB6_HUMAN	gap junction protein, beta 6	166	Extracellular (Potential).				cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				ovary(1)	1		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		CACATTTCAACACCCAGGGCA	0.453													G	20797122	C	G	20797122	2	3	98	1	0	0	0	0	0	0	0	1	6412	465	17	5		5	GJB6	13	20797122	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	80242	20797122	94372756	1094	65424											
IFT88	8100	broad.mit.edu	37	chr13	21157114	21157114	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaattggagaatgatgcaGcttttcagcaagctgtgagg	14	5	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:21157114G>T	uc001unh.2	+	5	532	c.136G>T	c.(136-138)GCT>TCT	p.A46S	IFT88_uc001uni.2_Missense_Mutation_p.A37S|IFT88_uc001unj.2_Missense_Mutation_p.A36S|IFT88_uc010tcq.1_Missense_Mutation_p.A36S	NM_175605	NP_783195	Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog isoform 1	46					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		GAATGATGCAGCTTTTCAGCA	0.294													T	21157114	G	T	21157114	3	4	98	1	0	0	0	0	1	0	0	0	7566	971	34	5	146	5	IFT88	13	21157114	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	359992	21157114	94012764	1095	65425											
SACS	26278	broad.mit.edu	37	chr13	23915417	23915417	+	Frame_Shift_Del	DEL	T	T	-													ggtaatggtgaatgaatataTtttttaataagcggatgttg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:23915416_23915416AT>A	uc001uon.2	-	9	3188	c.2599_2599AT>T	c.(2599-2601)tatfs	p.Y867fs	SACS_uc001uoo.2_Frame_Shift_Del_p.Y720fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	867					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAATGAATATATTTTTTAATA	0.343													-	23915417	T	-	23915417	7	5	98	1	0	1	0	1	0	0	0	0	13804	1490	52	0	11145	0	SACS	13	23915417	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	2758303	23915417	91254461	1096	65426											
C13orf33	84935	broad.mit.edu	37	chr13	31480852	31480852	+	Frame_Shift_Del	DEL	G	G	-													cggggagccggcggcggcgcGggggggcttcaacgtcttcg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:31480852delG	uc001uth.3	+	1	541	c.200delG	c.(199-201)CGGfs	p.R67fs	uc001utg.1_Intron	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	hypothetical protein LOC84935	67											0		Lung SC(185;0.0281)		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)		gcggcggcgcgggggggcTTC	0.582													-	31480852	G	-	31480852	7	5	98	1	0	1	0	1	0	0	0	0	1727	1116	39	0	202	0	C13orf33	13	31480852	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	7565435	31480852	83689026	1097	65427											
FRY	10129	broad.mit.edu	37	chr13	32691585	32691585	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgaatcacatgaatacagaCcaagaacaagcaataaatca	5	8	2	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:32691585C>A	uc001utx.2	+	4	935	c.439C>A	c.(439-441)CCA>ACA	p.P147T	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGAATACAGACCAAGAACAAG	0.338													A	32691585	C	A	32691585	3	1	98	1	0	0	0	0	1	0	0	0	6063	507	18	5	453	5	FRY	13	32691585	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1210733	32691585	82478293	1098	65428											
KL	9365	broad.mit.edu	37	chr13	33635847	33635847	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatccaatggaatcgatgaCgggctgcatgctgaggacga	13	8	0	2	rs138004650	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:33635847C>T	uc001uus.2	+	4	2639	c.2631C>T	c.(2629-2631)GAC>GAT	p.D877D	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	877	Glycosyl hydrolase-1 2.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GAATCGATGACGGGCTGCATG	0.517													T	33635847	C	T	33635847	2	4	98	1	0	0	0	0	0	0	0	1	8331	535	19	1		1	KL	13	33635847	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	944262	33635847	81534031	1099	65429											
MAB21L1	4081	broad.mit.edu	37	chr13	36049602	36049602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacccaggcgtcgctctccGccgagctctgcttgccggcc	12	19	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:36049602G>A	uc001uvc.2	-	1	1231	c.674C>T	c.(673-675)GCG>GTG	p.A225V	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	225					anatomical structure morphogenesis	nucleus				ovary(2)	2		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GTCGCTCTCCGCCGAGCTCTG	0.617													A	36049602	G	A	36049602	3	1	98	1	0	0	0	0	1	0	0	0	9141	1087	38	1	409	1	MAB21L1	13	36049602	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2413755	36049602	79120276	1100	65430											
DCLK1	9201	broad.mit.edu	37	chr13	36385083	36385083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccagcttcagtgatttgCtgccatcttggtgctcatac	8	13	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:36385083C>T	uc001uvf.2	-	12	1810	c.1577G>A	c.(1576-1578)AGC>AAC	p.S526N	DCLK1_uc001uve.3_Missense_Mutation_p.S219N|DCLK1_uc010teh.1_Missense_Mutation_p.S219N|DCLK1_uc010abk.2_Missense_Mutation_p.S46N	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	526	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CAGTGATTTGCTGCCATCTTG	0.463													T	36385083	C	T	36385083	3	4	98	1	0	0	0	0	1	0	0	0	4291	797	28	2	640	2	DCLK1	13	36385083	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	335481	36385083	78784795	1101	65431											
SPG20	23111	broad.mit.edu	37	chr13	36878539	36878539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctcctttacttccttcGtctgctcatccttctcccct	3	18	3	0	rs140800614		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:36878539G>A	uc001uvn.2	-	10	2234	c.1964C>T	c.(1963-1965)ACG>ATG	p.T655M	SPG20_uc010ten.1_Missense_Mutation_p.T645M|SPG20_uc001uvm.2_Missense_Mutation_p.T655M|SPG20_uc001uvo.2_Missense_Mutation_p.T655M|SPG20_uc001uvq.2_Missense_Mutation_p.T655M	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	655					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TACTTCCTTCGTCTGCTCATC	0.403													A	36878539	G	A	36878539	3	1	98	1	0	0	0	0	1	0	0	0	15041	1145	40	1	40	1	SPG20	13	36878539	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	493456	36878539	78291339	1102	65432											
SMAD9	4093	broad.mit.edu	37	chr13	37453416	37453416	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgtaaagacgacccaccTggagtctccacccggcggta	11	15	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:37453416T>C	uc001uvw.2	-	2	754	c.411A>G	c.(409-411)CCA>CCG	p.P137P	SMAD9_uc001uvx.2_Silent_p.P137P|SMAD9_uc010tep.1_5'UTR	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	137	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		ACGACCCACCTGGAGTCTCCA	0.547													C	37453416	T	C	37453416	2	2	98	1	0	0	0	0	0	0	0	1	14764	1594	55	3		3	SMAD9	13	37453416	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	574877	37453416	77716462	1103	65433											
STOML3	161003	broad.mit.edu	37	chr13	39541029	39541029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgccctctagtatattcAtgggcagaggaaacacaatc	8	10	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:39541029A>G	uc001uwx.2	-	7	947	c.809T>C	c.(808-810)ATG>ACG	p.M270T	STOML3_uc010tez.1_Missense_Mutation_p.M261T	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	stomatin-like 3 isoform 1	270	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TAGTATATTCATGGGCAGAGG	0.507													G	39541029	A	G	39541029	3	3	98	1	0	0	0	0	1	0	0	0	15314	217	8	3	70	3	STOML3	13	39541029	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	2087613	39541029	75628849	1104	65434											
TSC22D1	8848	broad.mit.edu	37	chr13	45149330	45149330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgtagtacttggagcaCgcatattagtcattacagat	8	9	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:45149330C>T	uc001uzn.3	-	1	1372	c.881G>A	c.(880-882)CGT>CAT	p.R294H	TSC22D1_uc001uzo.1_Missense_Mutation_p.R294H	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	294					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ACTTGGAGCACGCATATTAGT	0.398													T	45149330	C	T	45149330	3	4	98	1	0	0	0	0	1	0	0	0	16604	536	19	1	2481	1	TSC22D1	13	45149330	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	5608301	45149330	70020548	1105	65435											
CPB2	1361	broad.mit.edu	37	chr13	46638789	46638789	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccaacaacctaccacaccAgtgtttggaagcaaagttcc	7	13	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:46638789A>G	uc001vaw.2	-	8	857	c.790T>C	c.(790-792)TGG>CGG	p.W264R	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Missense_Mutation_p.W227R	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a	264					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CTACCACACCAGTGTTTGGAA	0.403													G	46638789	A	G	46638789	3	3	98	1	0	0	0	0	1	0	0	0	3797	188	7	3	497	3	CPB2	13	46638789	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1489459	46638789	68531089	1106	65436											
SETDB2	83852	broad.mit.edu	37	chr13	50062719	50062719	+	Frame_Shift_Del	DEL	T	T	-													agttcaataaagggaatgtgTttttattggatgccacaaaa							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:50062718_50062718GT>G	uc001vcz.3	+	12	2811	c.1905_1905GT>G	c.(1903-1905)gtgfs	p.V635fs	SETDB2_uc010adh.2_3'UTR|SETDB2_uc001vda.3_Frame_Shift_Del_p.V623fs	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	Homo sapiens SET domain, bifurcated 2 (SETDB2), transcript variant 1, mRNA.	635	SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		AAGGGAATGTGTTTTTATTGG	0.373													-	50062719	T	-	50062719	7	5	98	1	0	1	0	1	0	0	0	0	14139	1725	60	0	1952	0	SETDB2	13	50062719	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	3423930	50062719	65107159	1107	65437											
KCNRG	283518	broad.mit.edu	37	chr13	50589904	50589904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcttttctatgaacttcGttctctagttgatctcttaa	6	9	4	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:50589904G>A	uc001vdu.2	+	1	515	c.275G>A	c.(274-276)CGT>CAT	p.R92H	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_Missense_Mutation_p.R92H|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN	potassium channel regulator isoform 1	92	BTB.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity				0		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		TATGAACTTCGTTCTCTAGTT	0.413													A	50589904	G	A	50589904	3	1	98	1	0	0	0	0	1	0	0	0	8087	1145	40	1	277	1	KCNRG	13	50589904	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	527185	50589904	64579974	1108	65438											
ATP7B	540	broad.mit.edu	37	chr13	52509016	52509016	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggacagcgacacctggctgAcatagctgacctggtcccat	11	13	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:52509016A>G	uc001vfw.2	-	21	4431	c.4274T>C	c.(4273-4275)GTC>GCC	p.V1425A	ATP7B_uc010adv.2_Missense_Mutation_p.V995A|ATP7B_uc001vfx.2_Missense_Mutation_p.V1218A|ATP7B_uc001vfy.2_Missense_Mutation_p.V1314A|ATP7B_uc010tgt.1_Missense_Mutation_p.V1360A|ATP7B_uc010tgu.1_Missense_Mutation_p.V1377A|ATP7B_uc010tgv.1_Missense_Mutation_p.V1347A|ATP7B_uc001vfv.2_Missense_Mutation_p.V697A|ATP7B_uc010tgs.1_Missense_Mutation_p.V636A	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1425	Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CACCTGGCTGACATAGCTGAC	0.617									Wilson_disease				G	52509016	A	G	52509016	3	3	98	1	0	0	0	0	1	0	0	0	1191	275	10	3	127	3	ATP7B	13	52509016	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1919112	52509016	62660862	1109	65439											
CKAP2	26586	broad.mit.edu	37	chr13	53049197	53049197	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attggaacagctaacggagtTgggaagagaaactgatgctt	13	5	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:53049197T>C	uc001vgv.2	+	9	2170	c.1973T>C	c.(1972-1974)TTG>TCG	p.L658S	CKAP2_uc001vgu.2_Missense_Mutation_p.L657S|CKAP2_uc010tha.1_Missense_Mutation_p.L609S	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2 isoform 2	658					apoptosis|cell cycle	centrosome|microtubule|spindle pole				ovary(1)|skin(1)	2		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CTAACGGAGTTGGGAAGAGAA	0.423													C	53049197	T	C	53049197	3	2	98	1	0	0	0	0	1	0	0	0	3442	1821	63	3	2007	3	CKAP2	13	53049197	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	540181	53049197	62120681	1110	65440											
PCDH8	5100	broad.mit.edu	37	chr13	53420095	53420095	+	Frame_Shift_Del	DEL	C	C	-													caaagggcgctttgccggtgCcagggaaggtgagcacgtcg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:53420095delC	uc001vhi.2	-	1	2680	c.2477delG	c.(2476-2478)GGCfs	p.G826fs	PCDH8_uc001vhj.2_Intron	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	826	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TTTGCCGGTGCCAGGGAAGGT	0.706													-	53420095	C	-	53420095	7	5	98	1	0	1	0	1	0	0	0	0	11517	739	26	0	747	0	PCDH8	13	53420095	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	370898	53420095	61749783	1111	65441											
DIAPH3	81624	broad.mit.edu	37	chr13	60582719	60582719	+	Frame_Shift_Del	DEL	A	A	-													ccggaggccttccacaatacAaaaaaatctgtcaatttttt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:60582718_60582718CA>C	uc001vht.3	-	8	1193	c.974_974TG>G	c.(973-975)tgtfs	p.C325fs	DIAPH3_uc001vhu.3_Frame_Shift_Del_p.C62fs|DIAPH3_uc001vhw.1_Frame_Shift_Del_p.C314fs|DIAPH3_uc010aed.1_Frame_Shift_Del_p.C279fs|DIAPH3_uc010aee.1_Frame_Shift_Del_p.C255fs	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	325	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TTCCACAATACAAAAAAATCT	0.308													-	60582719	A	-	60582719	7	5	98	1	0	1	0	1	0	0	0	0	4520	130	5	0	2708	0	DIAPH3	13	60582719	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	7162624	60582719	54587159	1112	65442											
LMO7	4008	broad.mit.edu	37	chr13	76382045	76382045	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatagataccacccagtcccTtttcccgaaccctggactct	6	16	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:76382045T>C	uc001vjv.2	+	7	1687	c.927T>C	c.(925-927)CCT>CCC	p.P309P	LMO7_uc010thv.1_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc010thw.1_Intron|LMO7_uc001vjw.1_Silent_p.P215P	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	594						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ACCCAGTCCCTTTTCCCGAAC	0.448													C	76382045	T	C	76382045	2	2	98	1	0	0	0	0	0	0	0	1	8855	1596	56	3		3	LMO7	13	76382045	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	15799326	76382045	38787833	1113	65443											
MYCBP2	23077	broad.mit.edu	37	chr13	77763121	77763121	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaagacctctttaaaaTgtgtacaggttcactggttt	8	7	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:77763121T>C	uc001vkf.2	-	31	4193	c.4102A>G	c.(4102-4104)ATT>GTT	p.I1368V	MYCBP2_uc010aev.2_Missense_Mutation_p.I772V	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTCTTTAAAATGTGTACAGGT	0.363													C	77763121	T	C	77763121	3	2	98	1	0	0	0	0	1	0	0	0	10018	1464	51	3	10036	3	MYCBP2	13	77763121	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1381076	77763121	37406757	1114	65444											
MYCBP2	23077	broad.mit.edu	37	chr13	77779459	77779459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accaagtaaaatatcagtgtCggcactgaaacgtatagctt	8	8	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:77779459C>T	uc001vkf.2	-	27	3752	c.3661G>A	c.(3661-3663)GAC>AAC	p.D1221N	MYCBP2_uc010aev.2_Missense_Mutation_p.D625N	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATATCAGTGTCGGCACTGAAA	0.368													T	77779459	C	T	77779459	3	4	98	1	0	0	0	0	1	0	0	0	10018	884	31	1	10493	1	MYCBP2	13	77779459	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	16338	77779459	37390419	1115	65445											
GPC6	10082	broad.mit.edu	37	chr13	94482724	94482724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgaagattcaggttaccCgcgccttcattgctgccagg	10	12	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:94482724C>T	uc001vlt.2	+	3	1269	c.637C>T	c.(637-639)CGC>TGC	p.R213C	GPC6_uc010tig.1_Missense_Mutation_p.R213C|GPC6_uc001vlu.1_Missense_Mutation_p.R143C	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	213						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TCAGGTTACCCGCGCCTTCAT	0.498													T	94482724	C	T	94482724	3	4	98	1	0	0	0	0	1	0	0	0	6602	652	23	1	647	1	GPC6	13	94482724	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	16703265	94482724	20687154	1116	65446											
RNF113B	140432	broad.mit.edu	37	chr13	98829522	98829522	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctcccaacggccgtggcGtgcgtcacccttgcgtcgcc	13	17	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:98829522G>A	uc001vnk.2	-	1	1	c.-30_splice	c.e1-1		FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B								nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CGGCCGTGGCGtgcgtcaccc	0.468													A	98829522	G	A	98829522	5	1	98	1	0	0	0	0	0	0	1	0	13428	1160	40	1		1	RNF113B	13	98829522	Splice_Site	SNP	G	TCGA-BR-8591-01A-11D-2394-08	4346798	98829522	16340356	1117	65447											
TMTC4	84899	broad.mit.edu	37	chr13	101289878	101289878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccatgatcctccagcgcaCgtagagcatcccagcccctc	8	19	0	2	rs3809371	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:101289878C>T	uc001vou.2	-	8	1016	c.856G>A	c.(856-858)GTG>ATG	p.V286M	TMTC4_uc001vot.2_Missense_Mutation_p.V305M|TMTC4_uc010tja.1_Missense_Mutation_p.V175M|TMTC4_uc001vov.1_Missense_Mutation_p.V31M|TMTC4_uc001vow.1_Missense_Mutation_p.V69M	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	286	Helical; (Potential).					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTCCAGCGCACGTAGAGCATC	0.632													T	101289878	C	T	101289878	3	4	98	1	0	0	0	0	1	0	0	0	16260	536	19	1	1413	1	TMTC4	13	101289878	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2460356	101289878	13880000	1118	65448											
TMTC4	84899	broad.mit.edu	37	chr13	101294559	101294559	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaagaatgcgctccctccTtgttacctgccaattaagag	9	11	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:101294559T>C	uc001vou.2	-	6	750	c.590A>G	c.(589-591)AAG>AGG	p.K197R	TMTC4_uc001vot.2_Missense_Mutation_p.K216R|TMTC4_uc010tja.1_Missense_Mutation_p.K86R|TMTC4_uc001vow.1_5'UTR	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	197						integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGCTCCCTCCTTGTTACCTGC	0.453													C	101294559	T	C	101294559	3	2	98	1	0	0	0	0	1	0	0	0	16260	1609	56	3	1687	3	TMTC4	13	101294559	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	4681	101294559	13875319	1119	65449											
IRS2	8660	broad.mit.edu	37	chr13	110434506	110434506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgccgccggtgctgccgaCgcccacagcgctgatgagac	13	18	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:110434506C>T	uc001vqv.2	-	1	4409	c.3895G>A	c.(3895-3897)GTC>ATC	p.V1299I		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1299					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GTGCTGCCGACGCCCACAGCG	0.562													T	110434506	C	T	110434506	3	4	98	1	0	0	0	0	1	0	0	0	7841	536	19	1	129	1	IRS2	13	110434506	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	9139947	110434506	4735372	1120	65450											
COL4A1	1282	broad.mit.edu	37	chr13	110850974	110850974	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagcctgcccaggtacaggGaggcctgcaaccagacagaa	12	14	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:110850974G>A	uc001vqw.3	-	21	1247	c.1125C>T	c.(1123-1125)CTC>CTT	p.L375L	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	375	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGGTACAGGGAGGCCTGCAA	0.512													A	110850974	G	A	110850974	2	1	98	1	0	0	0	0	0	0	0	1	3689	1161	41	4		4	COL4A1	13	110850974	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	416468	110850974	4318904	1121	65451											
ANKRD10	55608	broad.mit.edu	37	chr13	111545452	111545452	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatttgttcccacactaataTgattaggaaatacattctga	6	7	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:111545452T>C	uc001vrn.2	-	4	749	c.614A>G	c.(613-615)CAT>CGT	p.H205R	ANKRD10_uc001vrm.2_5'UTR|ANKRD10_uc001vro.1_3'UTR|ANKRD10_uc001vrp.1_3'UTR	NM_017664	NP_060134	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	205										central_nervous_system(1)	1	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			CACACTAATATGATTAGGAAA	0.423													C	111545452	T	C	111545452	3	2	98	1	0	0	0	0	1	0	0	0	638	1464	51	3	660	3	ANKRD10	13	111545452	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	694478	111545452	3624426	1122	65452											
ATP11A	23250	broad.mit.edu	37	chr13	113481079	113481079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatccctgtgtccatgtaCgtcacggtcgagatgcagaa	10	11	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:113481079C>T	uc001vsi.3	+	12	1183	c.1095C>T	c.(1093-1095)TAC>TAT	p.Y365Y	ATP11A_uc001vsj.3_Silent_p.Y365Y|ATP11A_uc001vsm.1_Silent_p.Y241Y	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	365	Helical; (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TGTCCATGTACGTCACGGTCG	0.542													T	113481079	C	T	113481079	2	4	98	1	0	0	0	0	0	0	0	1	1119	547	19	1		1	ATP11A	13	113481079	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1935627	113481079	1688799	1123	65453											
FAM70B	348013	broad.mit.edu	37	chr13	114514861	114514861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccgggggagaagccaccCccctacgcaccctgatagag	11	18	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:114514861C>T	uc001vuh.2	+	9	993	c.966C>T	c.(964-966)CCC>CCT	p.P322P		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	322	Pro-rich.					integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			AGAAGCCACCCCCCTACGCAC	0.557													T	114514861	C	T	114514861	2	4	98	1	0	0	0	0	0	0	0	1	5606	610	22	4		4	FAM70B	13	114514861	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1033782	114514861	655017	1124	65454											
GAS6	2621	broad.mit.edu	37	chr13	114523858	114523858	+	Frame_Shift_Del	DEL	G	G	-													taggctgcggcgggctccacGggggggcaggagtgggccgt					rs77565607		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:114523857_114523857CG>C	uc001vug.3	-	6	2172	c.1120_1120CG>G	c.(1120-1122)gtgfs	p.V374fs	GAS6_uc001vud.3_Frame_Shift_Del_p.V673fs|GAS6_uc001vuf.3_Frame_Shift_Del_p.V400fs	NM_001143946	NP_001137418	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 3, mRNA.	716	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GCGGGCTCCACGGGGGGGCAG	0.706													-	114523858	G	-	114523858	7	5	98	1	0	1	0	1	0	0	0	0	6249	1103	39	0	24	0	GAS6	13	114523858	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	8997	114523858	646020	1125	65455											
OR11H12	440153	broad.mit.edu	37	chr14	19378054	19378054	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctaatatcatgactgggcAtctctgtgccaaactggtca	8	11	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:19378054A>G	uc010tkp.1	+	1	461	c.461A>G	c.(460-462)CAT>CGT	p.H154R		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H,	154	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGACTGGGCATCTCTGTGCC	0.478													G	19378054	A	G	19378054	3	3	98	1	0	0	0	0	1	0	0	0	10927	217	8	3	463	3	OR11H12	14	19378054	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08		19378054	87971486	1126	65456											
OR4M1	441670	broad.mit.edu	37	chr14	20248931	20248931	+	Frame_Shift_Del	DEL	G	G	-													ctggtggctctctcctggatGgggggcttcattcattctat							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:20248930_20248930TG>T	uc010tku.2	+	0	449	c.449_449TG>T	c.(448-450)atgfs	p.M150fs		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTCTCCTGGATGGGGGGCTTC	0.502													-	20248931	G	-	20248931	7	5	98	1	0	1	0	1	0	0	0	0	11075	1348	47	0	452	0	OR4M1	14	20248931	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	870877	20248931	87100609	1127	65457											
OR4K13	390433	broad.mit.edu	37	chr14	20502155	20502155	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggccagacgtagataaagaCacacggagcaaagaacagag	13	8	0	5			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:20502155C>A	uc010tkz.1	-	1	763	c.763G>T	c.(763-765)GTC>TTC	p.V255F		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K,	255	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TAGATAAAGACACACGGAGCA	0.408													A	20502155	C	A	20502155	3	1	98	1	0	0	0	0	1	0	0	0	11068	478	17	5	153	5	OR4K13	14	20502155	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	253224	20502155	86847385	1128	65458											
OR4L1	122742	broad.mit.edu	37	chr14	20528376	20528376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggtcaacccttcattctcCcttgtactttctccttggaa	5	13	4	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:20528376C>T	uc001vwn.1	+	1	173	c.173C>T	c.(172-174)CCC>CTC	p.P58L		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L,	58	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CTTCATTCTCCCTTGTACTTT	0.428													T	20528376	C	T	20528376	3	4	98	1	0	0	0	0	1	0	0	0	11074	623	22	4	175	4	OR4L1	14	20528376	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	26221	20528376	86821164	1129	65459											
TEP1	7011	broad.mit.edu	37	chr14	20854232	20854232	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccaaacctgtctgccttAcccagtggaagtgtggatgg	11	12	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:20854232A>G	uc001vxe.2	-	20	3022	c.2982_splice	c.e20+1	p.W994_splice	TEP1_uc010ahk.2_Splice_Site_p.W344_splice|TEP1_uc010tlf.1_Splice_Site|TEP1_uc010tlg.1_Splice_Site_p.W886_splice	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1						telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGTCTGCCTTACCCAGTGGAA	0.557													G	20854232	A	G	20854232	5	3	98	1	0	0	0	0	0	0	1	0	15756	405	14	3	5043	3	TEP1	14	20854232	Splice_Site	SNP	A	TCGA-BR-8591-01A-11D-2394-08	325856	20854232	86495308	1130	65460											
RNASE9	390443	broad.mit.edu	37	chr14	21025061	21025061	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttggtaggtggtctggcGggccctgtactaaaaaattt	12	7	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:21025061G>A	uc010aho.2	-	4	327	c.168C>T	c.(166-168)CCC>CCT	p.P56P	RNASE9_uc001vxq.3_Silent_p.P61P|RNASE9_uc010ahp.2_Silent_p.P61P|RNASE9_uc010ahq.2_Silent_p.P61P|RNASE9_uc010ahr.2_Silent_p.P61P|RNASE9_uc010ahs.2_Silent_p.P56P|RNASE9_uc010aht.2_Silent_p.P56P|RNASE9_uc010ahu.2_Silent_p.P56P	NM_001110357	NP_001103827	P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	56						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			ovary(2)	2	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		GTGGTCTGGCGGGCCCTGTAC	0.378													A	21025061	G	A	21025061	2	1	98	1	0	0	0	0	0	0	0	1	13410	1103	39	1		1	RNASE9	14	21025061	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	170829	21025061	86324479	1131	65461											
SUPT16H	11198	broad.mit.edu	37	chr14	21831283	21831283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttctttctgatgtgctcttCgcttctcttctgcagtcatt	7	11	6	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:21831283C>T	uc001wao.2	-	13	1760	c.1421G>A	c.(1420-1422)CGA>CAA	p.R474Q		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	474	Potential.				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		ATGTGCTCTTCGCTTCTCTTC	0.398													T	21831283	C	T	21831283	3	4	98	1	0	0	0	0	1	0	0	0	15393	884	31	1	1778	1	SUPT16H	14	21831283	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	806222	21831283	85518257	1132	65462											
MMP14	4323	broad.mit.edu	37	chr14	23313028	23313028	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgggcccaacatctgtgaCgggaactttgacaccgtggc	12	11	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:23313028C>T	uc001whc.2	+	6	1194	c.960C>T	c.(958-960)GAC>GAT	p.D320D		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	320	Extracellular (Potential).					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		ACATCTGTGACGGGAACTTTG	0.532													T	23313028	C	T	23313028	2	4	98	1	0	0	0	0	0	0	0	1	9653	535	19	1		1	MMP14	14	23313028	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1481745	23313028	84036512	1133	65463											
MYH6	4624	broad.mit.edu	37	chr14	23858108	23858108	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtccgctgaatggcgtccgTctcatacttggtcctccact	9	14	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:23858108T>C	uc001wjv.2	-	29	4202	c.4135A>G	c.(4135-4137)ACG>GCG	p.T1379A	uc010tnn.1_5'Flank|MIR208A_hsa-mir-208a|MI0000251_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1379	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ATGGCGTCCGTCTCATACTTG	0.627													C	23858108	T	C	23858108	3	2	98	1	0	0	0	0	1	0	0	0	10038	1667	58	3	1728	3	MYH6	14	23858108	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	545080	23858108	83491432	1134	65464											
MYH7	4625	broad.mit.edu	37	chr14	23885003	23885003	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttctccttcaggtcgtcGttggcacggactgcatcgtc	11	12	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:23885003G>A	uc001wjx.2	-	35	5098	c.4992C>T	c.(4990-4992)AAC>AAT	p.N1664N		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1664	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCAGGTCGTCGTTGGCACGGA	0.612													A	23885003	G	A	23885003	2	1	98	1	0	0	0	0	0	0	0	1	10039	1136	40	1		1	MYH7	14	23885003	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	26895	23885003	83464537	1135	65465											
MYH7	4625	broad.mit.edu	37	chr14	23894116	23894118	+	In_Frame_Del	DEL	CTT	CTT	-													tccttcatggaggccatctcCttctctctttctgcactctt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:23894115_23894117CCTT>C	uc001wjx.3	-	21	2646_2648	c.2540_2542AAGG>G	c.(2539-2544)aaggag>aGag	p.847_848KE>R		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	847			Missing (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GAGGCCATCTCCTTCTCTCTTTC	0.552													-	23894118	CTT	-	23894116	7	5	98	1	0	1	0	1	0	0	0	0	10039	680	24	0	3342	0	MYH7	14	23894116	In_Frame_Del	DEL	CTT	TCGA-BR-8591-01A-11D-2394-08	9113	23894116	83455424	1136	65466											
DHRS2	10202	broad.mit.edu	37	chr14	24113765	24113765	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagtggtgaggattgggTgtgtcttccatctcccagtc	13	9	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:24113765T>G	uc001wkt.3	+	7	1133	c.686_splice	c.e7+2	p.G229_splice	DHRS2_uc001wku.3_Intron|DHRS2_uc010akv.2_Intron|DHRS2_uc001wkv.3_Intron	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	dehydrogenase/reductase member 2 isoform 1						C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00659)		GAGGATTGGGTGTGTCTTCCA	0.517													G	24113765	T	G	24113765	5	3	98	1	0	0	0	0	0	0	1	0	4490	1710	59	5	710	5	DHRS2	14	24113765	Splice_Site	SNP	T	TCGA-BR-8591-01A-11D-2394-08	219649	24113765	83235775	1137	65467											
RNF31	55072	broad.mit.edu	37	chr14	24619940	24619941	+	Frame_Shift_Ins	INS	-	-	C													cccattccagcacaacatgcINScccccggccctatgccagct							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:24619939_24619940G>GC	uc001wmn.1	+	7	1579_1580	c.1330_1331G>GC	c.(1330-1332)gccfs	p.A444fs	RNF31_uc001wml.1_Frame_Shift_Ins_p.A293fs|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Frame_Shift_Ins_p.A259fs|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	444	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		AGCACAACATGCCCCCCGGCCC	0.594													C	24619941	-	C	24619940	7	5	98	1	0	1	1	0	0	0	0	0	13487	739	26	0	1361	0	RNF31	14	24619940	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	506175	24619940	82729600	1138	65468											
IPO4	79711	broad.mit.edu	37	chr14	24656883	24656883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatggtacctctctctctGggctgtgggggctgtgggta	17	8	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:24656883G>A	uc001wmv.1	-	5	529	c.398C>T	c.(397-399)CCA>CTA	p.P133L	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmx.1_5'UTR|IPO4_uc001wmy.1_5'UTR|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Missense_Mutation_p.P133L	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	importin 4	133					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			kidney(1)	1				GBM - Glioblastoma multiforme(265;0.0087)		CTCTCTCTCTGGGCTGTGGGG	0.567													A	24656883	G	A	24656883	3	1	98	1	0	0	0	0	1	0	0	0	7795	1348	47	4	2951	4	IPO4	14	24656883	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	36943	24656883	82692657	1139	65469											
NFATC4	4776	broad.mit.edu	37	chr14	24841792	24841792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcaaagctgcccctggcGgtcaccccgtagtcaaggta	11	14	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:24841792G>A	uc001wpc.2	+	3	1663	c.1342G>A	c.(1342-1344)GGT>AGT	p.G448S	NFATC4_uc010tok.1_Missense_Mutation_p.G511S|NFATC4_uc010tol.1_Missense_Mutation_p.G511S|NFATC4_uc010alr.2_Missense_Mutation_p.G511S|NFATC4_uc010als.2_Missense_Mutation_p.G461S|NFATC4_uc010tom.1_Missense_Mutation_p.G461S|NFATC4_uc010ton.1_Missense_Mutation_p.G461S|NFATC4_uc010too.1_Missense_Mutation_p.G461S|NFATC4_uc010alt.2_Missense_Mutation_p.G480S|NFATC4_uc010top.1_Missense_Mutation_p.G480S|NFATC4_uc010toq.1_Missense_Mutation_p.G480S|NFATC4_uc010alu.2_Missense_Mutation_p.G140S|NFATC4_uc010tor.1_Missense_Mutation_p.G448S|NFATC4_uc010tos.1_Missense_Mutation_p.G378S|NFATC4_uc010tot.1_Missense_Mutation_p.G436S|NFATC4_uc010tou.1_Missense_Mutation_p.G378S|NFATC4_uc010tov.1_Missense_Mutation_p.G436S|NFATC4_uc010tow.1_Missense_Mutation_p.G378S|NFATC4_uc010alv.2_Missense_Mutation_p.G436S|NFATC4_uc010tox.1_Missense_Mutation_p.G378S|NFATC4_uc001wpd.2_5'Flank|NFATC4_uc010toy.1_5'Flank|NFATC4_uc010toz.1_5'Flank|NFATC4_uc010tpa.1_5'Flank|NFATC4_uc010tpb.1_5'Flank	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	448	RHD.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		TGCCCCTGGCGGTCACCCCGT	0.587													A	24841792	G	A	24841792	3	1	98	1	0	0	0	0	1	0	0	0	10365	1116	39	1	1545	1	NFATC4	14	24841792	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	184909	24841792	82507748	1140	65470											
FOXG1	2290	broad.mit.edu	37	chr14	29237890	29237890	+	Frame_Shift_Del	DEL	G	G	-													gttttacgacgggactgtctGggggactgtctgattatttc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:29237889_29237889TG>T	uc001wqe.3	+	0	1603	c.1404_1404TG>T	c.(1402-1404)tctfs	p.S468fs		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	468					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CGGGACTGTCTGGGGGACTGT	0.532													-	29237890	G	-	29237890	7	5	98	1	0	1	0	1	0	0	0	0	6007	1348	47	0	1407	0	FOXG1	14	29237890	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	4396098	29237890	78111650	1141	65471											
KIAA0391	9692	broad.mit.edu	37	chr14	35739687	35739687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcacaagagacctgatgcGggaccacaaggcctgtctgc	11	12	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:35739687G>A	uc001wsy.1	+	7	1865	c.1505G>A	c.(1504-1506)CGG>CAG	p.R502Q	KIAA0391_uc010tps.1_Missense_Mutation_p.R407Q|KIAA0391_uc001wsz.1_Missense_Mutation_p.R486Q|KIAA0391_uc001wta.2_RNA|KIAA0391_uc001wtb.1_Missense_Mutation_p.R486Q|KIAA0391_uc001wtc.1_Missense_Mutation_p.R130Q	NM_014672	NP_055487	O15091	MRRP3_HUMAN	mitochondrial RNase P protein 3 precursor	502					tRNA processing	mitochondrion					0	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		GACCTGATGCGGGACCACAAG	0.507													A	35739687	G	A	35739687	3	1	98	1	0	0	0	0	1	0	0	0	8172	1116	39	1	1527	1	KIAA0391	14	35739687	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	6501797	35739687	71609853	1142	65472											
INSM2	84684	broad.mit.edu	37	chr14	36004595	36004595	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggggcggatcagcacccGgacagcgccccgaggcaggg	17	15	1	0	rs149249302		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:36004595G>A	uc001wth.1	+	1	1348	c.1137G>A	c.(1135-1137)CCG>CCA	p.P379P		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		ATCAGCACCCGGACAGCGCCC	0.682											OREG0005660	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=INSM2|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	A	36004595	G	A	36004595	2	1	98	1	0	0	0	0	0	0	0	1	7772	1103	39	1		1	INSM2	14	36004595	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	264908	36004595	71344945	1143	65473											
NKX2-1	7080	broad.mit.edu	37	chr14	36987001	36987001	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgacctgcgtgggcgtcaGgtggatcatgctggccaggt	16	10	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:36987001G>T	uc001wtt.2	-	2	939	c.598C>A	c.(598-600)CTG>ATG	p.L200M	SFTA3_uc001wts.2_Intron|NKX2-1_uc001wtu.2_Missense_Mutation_p.L230M|NKX2-1_uc001wtv.2_Missense_Mutation_p.L200M|uc001wtw.1_5'Flank	NM_003317	NP_003308	P43699	NKX21_HUMAN	thyroid transcription factor 1 isoform 2	200	Homeobox.				epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			skin(1)	1	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		GTGGGCGTCAGGTGGATCATG	0.517			A		NSCLC								T	36987001	G	T	36987001	3	4	98	1	0	0	0	0	1	0	0	0	10449	991	35	5	521	5	NKX2-1	14	36987001	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	982406	36987001	70362539	1144	65474											
CTAGE5	4253	broad.mit.edu	37	chr14	39790151	39790151	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcattccccatatggtccCtcaccattgggttggccttc	9	14	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:39790151C>A	uc001wvg.3	+	19	1899	c.1563C>A	c.(1561-1563)CCC>CCA	p.P521P	CTAGE5_uc010tqe.1_Silent_p.P483P|CTAGE5_uc001wuz.3_Silent_p.P509P|CTAGE5_uc001wuy.3_Silent_p.P441P|CTAGE5_uc001wvb.3_Intron|CTAGE5_uc001wvc.3_Intron|CTAGE5_uc001wva.3_Silent_p.P492P|CTAGE5_uc001wvh.3_Intron|CTAGE5_uc001wvf.3_Silent_p.P446P|CTAGE5_uc001wvi.3_Silent_p.P526P|CTAGE5_uc010amz.2_Silent_p.P137P|CTAGE5_uc001wvj.3_Silent_p.P492P	NM_005930	NP_005921	O15320	CTGE5_HUMAN	CTAGE family, member 5 isoform 1	521	Pro-rich.						enzyme activator activity|protein binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		CATATGGTCCCTCACCATTGG	0.428													A	39790151	C	A	39790151	2	1	98	1	0	0	0	0	0	0	0	1	3994	668	24	5		5	CTAGE5	14	39790151	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2803150	39790151	67559389	1145	65475											
LRFN5	145581	broad.mit.edu	37	chr14	42356100	42356100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatacaataagttttattaCacctcatgctttcgctgacc	5	10	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:42356100C>T	uc001wvm.2	+	3	1470	c.272C>T	c.(271-273)ACA>ATA	p.T91I	LRFN5_uc010ana.2_Missense_Mutation_p.T91I	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	91	Extracellular (Potential).|LRR 2.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGTTTTATTACACCTCATGCT	0.353										HNSCC(30;0.082)			T	42356100	C	T	42356100	3	4	98	1	0	0	0	0	1	0	0	0	8941	478	17	4	274	4	LRFN5	14	42356100	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2565949	42356100	64993440	1146	65476											
FAM179B	23116	broad.mit.edu	37	chr14	45537805	45537805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaatccaggcatctatgCggctgctacaaatgttgttc	9	10	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:45537805C>T	uc001wvv.2	+	17	4978	c.4769C>T	c.(4768-4770)GCG>GTG	p.A1590V	FAM179B_uc001wvw.2_Missense_Mutation_p.A1643V|FAM179B_uc010anc.2_RNA	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	1590	HEAT 6.						binding			skin(2)|upper_aerodigestive_tract(1)	3						GGCATCTATGCGGCTGCTACA	0.373													T	45537805	C	T	45537805	3	4	98	1	0	0	0	0	1	0	0	0	5506	768	27	1	4835	1	FAM179B	14	45537805	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3181705	45537805	61811735	1147	65477											
FANCM	57697	broad.mit.edu	37	chr14	45642288	45642289	+	Frame_Shift_Ins	INS	-	-	CT													aaccactggaattcatcaacINStctctctctctgaatggaga					rs117392855	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:45642287_45642288A>ACT	uc001wwd.4	+	12	2289_2290	c.2190_2191A>ACT	c.(2188-2193)caactcfs	p.Q730fs	FANCM_uc010anf.3_Frame_Shift_Ins_p.Q704fs|FANCM_uc001wwe.4_Frame_Shift_Ins_p.Q266fs|FANCM_uc010ang.3_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	730					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAATTCATCAACTCTCTCTCTC	0.347								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				CT	45642289	-	CT	45642288	7	5	98	1	0	1	1	0	0	0	0	0	5671	565	20	0	2241	0	FANCM	14	45642288	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	104483	45642288	61707252	1148	65478											
C14orf106	55320	broad.mit.edu	37	chr14	45711564	45711564	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcatcagcagaatcaacGctttctaaaacaaacgtgtc	6	10	4	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:45711564G>A	uc001wwf.2	-	4	1275	c.816C>T	c.(814-816)AGC>AGT	p.S272S	C14orf106_uc010anh.2_RNA	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	272					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						CAGAATCAACGCTTTCTAAAA	0.343													A	45711564	G	A	45711564	2	1	98	1	0	0	0	0	0	0	0	1	1738	1078	38	1		1	C14orf106	14	45711564	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	69276	45711564	61637976	1149	65479											
MDGA2	161357	broad.mit.edu	37	chr14	47530528	47530528	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagatgctacacatgtgtaCgtcccaaaatccgtgaattt	8	9	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:47530528C>T	uc001wwj.3	-	7	1438	c.1242G>A	c.(1240-1242)ACG>ACA	p.T414T	MDGA2_uc001wwi.3_Silent_p.T185T|MDGA2_uc010ani.2_5'UTR	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	414	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						CACATGTGTACGTCCCAAAAT	0.408													T	47530528	C	T	47530528	2	4	98	1	0	0	0	0	0	0	0	1	9407	523	19	1		1	MDGA2	14	47530528	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1818964	47530528	59819012	1150	65480											
SOS2	6655	broad.mit.edu	37	chr14	50667726	50667726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagaggatttcttcgttttCgtttttctatagcagattgt	8	5	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:50667726C>T	uc001wxs.3	-	3	388	c.290G>A	c.(289-291)CGA>CAA	p.R97Q	SOS2_uc010tql.1_Missense_Mutation_p.R97Q	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	97					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					TCTTCGTTTTCGTTTTTCTAT	0.403													T	50667726	C	T	50667726	3	4	98	1	0	0	0	0	1	0	0	0	14937	884	31	1	3792	1	SOS2	14	50667726	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3137198	50667726	56681814	1151	65481											
TXNDC16	57544	broad.mit.edu	37	chr14	53003450	53003450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttacaagagaacatgggCgacaatggcattcacatcaa	8	9	2	1	rs147390631	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:53003450C>T	uc001wzs.2	-	6	828	c.379G>A	c.(379-381)GCC>ACC	p.A127T	TXNDC16_uc010tqu.1_Missense_Mutation_p.A127T|TXNDC16_uc010aoe.2_RNA	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	127					cell redox homeostasis	extracellular region					0	Breast(41;0.0716)					AGAACATGGGCGACAATGGCA	0.289													T	53003450	C	T	53003450	3	4	98	1	0	0	0	0	1	0	0	0	16792	768	27	1	2162	1	TXNDC16	14	53003450	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2335724	53003450	54346090	1152	65482											
FERMT2	10979	broad.mit.edu	37	chr14	53360082	53360082	+	Frame_Shift_Del	DEL	T	T	-													actggtcatctagcttcttcTtttttttctttgttggatct							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:53360081_53360081CT>C	uc001xac.3	-	3	642	c.456_456AG>G	c.(454-456)aagfs	p.K152fs	FERMT2_uc001xad.3_Frame_Shift_Del_p.K152fs|FERMT2_uc001xae.3_Frame_Shift_Del_p.K152fs|FERMT2_uc001xaf.3_Frame_Shift_Del_p.K152fs	NM_001134999	NP_001128471	Q96AC1	FERM2_HUMAN	Homo sapiens fermitin family member 2 (FERMT2), transcript variant 2, mRNA.	152					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	p.K152K(2)	ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					CTAGCTTCTTCTTTTTTTTCT	0.383													-	53360082	T	-	53360082	7	5	98	1	0	1	0	1	0	0	0	0	5818	1609	56	0	1672	0	FERMT2	14	53360082	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	356632	53360082	53989458	1153	65483											
KIAA0831	22863	broad.mit.edu	37	chr14	55848903	55848903	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctgaagacacatctgcGgggtctctacaagtaggaag	11	10	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:55848903G>A	uc001xbx.1	-	6	690	c.654C>T	c.(652-654)CCC>CCT	p.P218P	FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Silent_p.P105P	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Barkor	218					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding				0						ACACATCTGCGGGGTCTCTAC	0.493													A	55848903	G	A	55848903	2	1	98	1	0	0	0	0	0	0	0	1	8195	1103	39	1		1	KIAA0831	14	55848903	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2488821	55848903	51500637	1154	65484											
TBPL2	387332	broad.mit.edu	37	chr14	55903468	55903468	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaagcccagcccaacgtccTgttcgctgggtgatggcaac	11	13	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:55903468T>C	uc001xby.2	-	2	419	c.419A>G	c.(418-420)CAG>CGG	p.Q140R		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	140					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding				0						CCCAACGTCCTGTTCGCTGGG	0.483													C	55903468	T	C	55903468	3	2	98	1	0	0	0	0	1	0	0	0	15643	1580	55	3	732	3	TBPL2	14	55903468	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	54565	55903468	51446072	1155	65485											
C14orf149	112849	broad.mit.edu	37	chr14	59946072	59946072	+	Splice_Site	DEL	A	A	-													gaacatccaccatgagatctAaaaaaaagatgtgtttggaa							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:59946071_59946071TA>T	uc001xee.1	-	2	548	c.509_splice	c.e2-1	p.D170_splice	C14orf149_uc010trx.1_Intron	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	Homo sapiens chromosome 14 open reading frame 149 (C14orf149), mRNA.	170							proline racemase activity			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	CCATGAGATCTAAAAAAAAGA	0.333													-	59946072	A	-	59946072	8	5	98	1	0	1	0	1	0	0	1	0	1752	377	13	0		0	C14orf149	14	59946072	Splice_Site	DEL	A	TCGA-BR-8591-01A-11D-2394-08	4042604	59946072	47403468	1156	65486											
JKAMP	51528	broad.mit.edu	37	chr14	59954414	59954414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcccaagaggacagagaaCgaatgcacagaaatattgtc	10	8	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:59954414C>T	uc001xei.3	+	3	663	c.161C>T	c.(160-162)ACG>ATG	p.T54M	JKAMP_uc001xef.3_Missense_Mutation_p.T40M|JKAMP_uc001xeh.3_Missense_Mutation_p.T34M|JKAMP_uc001xeg.3_Missense_Mutation_p.T48M|JKAMP_uc010try.1_Translation_Start_Site|JKAMP_uc001xej.3_Translation_Start_Site	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	JNK1-associated membrane protein isoform 2	55	Lumenal (Potential).				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)	1						GGACAGAGAACGAATGCACAG	0.358													T	59954414	C	T	59954414	3	4	98	1	0	0	0	0	1	0	0	0	7949	536	19	1	129	1	JKAMP	14	59954414	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	8342	59954414	47395126	1157	65487											
TMEM30B	161291	broad.mit.edu	37	chr14	61747063	61747063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagttgccctggcggatgCgcgcgtacagtttgcggaac	15	10	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:61747063C>T	uc001xfl.2	-	1	1468	c.803G>A	c.(802-804)CGC>CAC	p.R268H	PRKCH_uc010tsa.1_Intron|TMEM30B_uc010apr.1_RNA	NM_001017970	NP_001017970	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	268						integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		CTGGCGGATGCGCGCGTACAG	0.672													T	61747063	C	T	61747063	3	4	98	1	0	0	0	0	1	0	0	0	16151	768	27	1	256	1	TMEM30B	14	61747063	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1792649	61747063	45602477	1158	65488											
PLEKHG3	26030	broad.mit.edu	37	chr14	65197879	65197879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcatgagcacgcggtcCggctccaggtgctctggggc	18	12	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:65197879C>T	uc001xho.1	+	7	1110	c.841C>T	c.(841-843)CGG>TGG	p.R281W	PLEKHG3_uc001xhn.1_Missense_Mutation_p.R225W|PLEKHG3_uc001xhp.2_Missense_Mutation_p.R281W|PLEKHG3_uc010aqh.1_5'UTR	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	281					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCACGCGGTCCGGCTCCAGGT	0.637													T	65197879	C	T	65197879	3	4	98	1	0	0	0	0	1	0	0	0	12070	643	23	1	687	1	PLEKHG3	14	65197879	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3450816	65197879	42151661	1159	65489											
SPTB	6710	broad.mit.edu	37	chr14	65237609	65237609	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacactcccctcacctgggcCtctcctgggtctcgatctgc	9	18	4	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:65237609C>A	uc001xht.2	-	26	5846	c.5792G>T	c.(5791-5793)AGG>ATG	p.R1931M	SPTB_uc001xhr.2_Missense_Mutation_p.R1931M|SPTB_uc001xhs.2_Missense_Mutation_p.R1931M|SPTB_uc001xhu.2_Missense_Mutation_p.R1931M|SPTB_uc010aqi.2_Missense_Mutation_p.R592M	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	1931	Spectrin 16.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCACCTGGGCCTCTCCTGGGT	0.632													A	65237609	C	A	65237609	3	1	98	1	0	0	0	0	1	0	0	0	15117	681	24	5	1303	5	SPTB	14	65237609	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	39730	65237609	42111931	1160	65490											
ZFYVE26	23503	broad.mit.edu	37	chr14	68244276	68244276	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttcacggtgtatccttacCttggatcccacatacagcgc	7	13	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:68244276C>A	uc001xka.2	-	25	5113	c.4974G>T	c.(4972-4974)AAG>AAT	p.K1658N	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.K1658N	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1658					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTATCCTTACCTTGGATCCCA	0.537													A	68244276	C	A	68244276	3	1	98	1	0	0	0	0	1	0	0	0	17665	695	24	5	2717	5	ZFYVE26	14	68244276	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3006667	68244276	39105264	1161	65491											
ACTN1	87	broad.mit.edu	37	chr14	69341603	69341603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactctcgccgtacagcgcCgtggagaaggacatgtagtc	12	12	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:69341603C>T	uc001xkl.2	-	21	2962	c.2652G>A	c.(2650-2652)ACG>ACA	p.T884T	ACTN1_uc001xkk.2_Silent_p.T480T|ACTN1_uc010ttb.1_Silent_p.T814T|ACTN1_uc001xkm.2_Silent_p.T906T|ACTN1_uc001xkn.2_Silent_p.T879T	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	884					focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CGTACAGCGCCGTGGAGAAGG	0.687													T	69341603	C	T	69341603	2	4	98	1	0	0	0	0	0	0	0	1	204	639	23	1		1	ACTN1	14	69341603	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1097327	69341603	38007937	1162	65492											
ACTN1	87	broad.mit.edu	37	chr14	69341673	69341673	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtagggggccatccgcgcgAtgcagtactcagcctggtcg	15	12	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:69341673A>G	uc001xkl.2	-	21	2892	c.2582T>C	c.(2581-2583)ATC>ACC	p.I861T	ACTN1_uc001xkk.2_Missense_Mutation_p.I457T|ACTN1_uc010ttb.1_Missense_Mutation_p.I791T|ACTN1_uc001xkm.2_Missense_Mutation_p.I883T|ACTN1_uc001xkn.2_Missense_Mutation_p.I856T	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	861					focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CATCCGCGCGATGCAGTACTC	0.632													G	69341673	A	G	69341673	3	3	98	1	0	0	0	0	1	0	0	0	204	333	12	3	100	3	ACTN1	14	69341673	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	70	69341673	38007867	1163	65493											
ACTN1	87	broad.mit.edu	37	chr14	69392358	69392358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatctgtgtccccgccttcCggaggtgggagttacaccat	12	13	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:69392358C>T	uc001xkl.2	-	2	447	c.137G>A	c.(136-138)CGG>CAG	p.R46Q	ACTN1_uc010ttb.1_5'UTR|ACTN1_uc001xkm.2_Missense_Mutation_p.R46Q|ACTN1_uc001xkn.2_Missense_Mutation_p.R46Q|ACTN1_uc001xko.1_5'UTR|ACTN1_uc010ttd.1_Missense_Mutation_p.R25Q	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	46	CH 1.|Actin-binding.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCCCGCCTTCCGGAGGTGGGA	0.577													T	69392358	C	T	69392358	3	4	98	1	0	0	0	0	1	0	0	0	204	652	23	1	2691	1	ACTN1	14	69392358	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	50685	69392358	37957182	1164	65494											
GALNTL1	57452	broad.mit.edu	37	chr14	69800300	69800301	+	Frame_Shift_Ins	INS	-	-	G													gatgcccagatggacatctgINSggggggagagaattttggtg					rs144140025		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:69800299_69800300T>TG	uc001xlb.2	+	8	1276_1277	c.949_950T>TG	c.(949-951)tggfs	p.W317fs	GALNTL1_uc001xla.2_Frame_Shift_Ins_p.W317fs|GALNTL1_uc010aqu.2_Frame_Shift_Ins_p.W317fs	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	317	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		GATGGACATCTGGGGGGGAGAG	0.47													G	69800301	-	G	69800300	7	5	98	1	0	1	1	0	0	0	0	0	6221	1357	47	0	984	0	GALNTL1	14	69800300	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	407942	69800300	37549240	1165	65495											
ADAM21	8747	broad.mit.edu	37	chr14	70924556	70924556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgactgttactatcatggtTacgtggaggcagcccctgag	12	9	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:70924556T>C	uc001xmd.2	+	1	340	c.340T>C	c.(340-342)TAC>CAC	p.Y114H		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	114					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTATCATGGTTACGTGGAGGC	0.478													C	70924556	T	C	70924556	3	2	98	1	0	0	0	0	1	0	0	0	243	1754	61	3	342	3	ADAM21	14	70924556	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1124256	70924556	36424984	1166	65496											
PCNX	22990	broad.mit.edu	37	chr14	71445168	71445168	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcatgtttgaatgactcaaAcaggttaatggcacctgaaa	9	7	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:71445168A>G	uc001xmo.2	+	6	2560	c.2114A>G	c.(2113-2115)AAC>AGC	p.N705S	PCNX_uc001xmn.3_Missense_Mutation_p.N705S|PCNX_uc010are.1_Missense_Mutation_p.N705S	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	705						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AATGACTCAAACAGGTTAATG	0.463													G	71445168	A	G	71445168	3	3	98	1	0	0	0	0	1	0	0	0	11591	43	2	3	2136	3	PCNX	14	71445168	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	520612	71445168	35904372	1167	65497											
PCNX	22990	broad.mit.edu	37	chr14	71570248	71570248	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgataaactcatcttgtgAtcaacctattggctacccaa	5	11	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:71570248A>G	uc001xmo.2	+	32	6403	c.5957A>G	c.(5956-5958)GAT>GGT	p.D1986G	PCNX_uc010are.1_Missense_Mutation_p.D1875G|PCNX_uc010arf.1_Missense_Mutation_p.D774G|PCNX_uc001xmp.2_Missense_Mutation_p.D70G	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1986						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TCATCTTGTGATCAACCTATT	0.453													G	71570248	A	G	71570248	3	3	98	1	0	0	0	0	1	0	0	0	11591	333	12	3	6083	3	PCNX	14	71570248	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	125080	71570248	35779292	1168	65498											
PAPLN	89932	broad.mit.edu	37	chr14	73718750	73718750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagccaggagcccaaccccGgtgtgcactatgagtaccac	10	15	1	1	rs141937638		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:73718750G>A	uc010ttx.1	+	9	1031	c.868G>A	c.(868-870)GGT>AGT	p.G290S	PAPLN_uc001xnw.3_Missense_Mutation_p.G263S|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.G290S	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	290						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCCAACCCCGGTGTGCACTA	0.682													A	73718750	G	A	73718750	3	1	98	1	0	0	0	0	1	0	0	0	11428	1116	39	1	817	1	PAPLN	14	73718750	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2148502	73718750	33630790	1169	65499											
ACOT2	10965	broad.mit.edu	37	chr14	74036200	74036200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccggtgcgaatcgccgtgCgcggcctagccccggagcag	15	15	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:74036200C>T	uc001xon.3	+	1	429	c.256C>T	c.(256-258)CGC>TGC	p.R86C	ACOT1_uc010tuc.1_Intron|ACOT2_uc001xom.2_Intron	NM_006821	NP_006812	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	86					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		AATCGCCGTGCGCGGCCTAGC	0.706													T	74036200	C	T	74036200	3	4	98	1	0	0	0	0	1	0	0	0	152	768	27	1	258	1	ACOT2	14	74036200	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	317450	74036200	33313340	1170	65500											
ALDH6A1	4329	broad.mit.edu	37	chr14	74538180	74538180	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcatgagggatgtcacacTacaggcatgctcaaccacct	8	13	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:74538180T>C	uc001xpo.2	-	6	547	c.448A>G	c.(448-450)AGT>GGT	p.S150G	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010asa.2_5'UTR|ALDH6A1_uc010tuq.1_Missense_Mutation_p.S137G	NM_005589	NP_005580	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6A1 precursor	150						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	GATGTCACACTACAGGCATGC	0.522													C	74538180	T	C	74538180	3	2	98	1	0	0	0	0	1	0	0	0	503	1522	53	3	1187	3	ALDH6A1	14	74538180	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	501980	74538180	32811360	1171	65501											
PROX2	283571	broad.mit.edu	37	chr14	75329594	75329594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtcattcttggagggataGggtacctaggagaatctaga	15	5	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:75329594G>T	uc001xqr.1	-	1	944	c.944C>A	c.(943-945)CCT>CAT	p.P315H	PROX2_uc001xqq.1_Intron	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	315					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		TGGAGGGATAGGGTACCTAGG	0.532													T	75329594	G	T	75329594	3	4	98	1	0	0	0	0	1	0	0	0	12561	1000	35	5	850	5	PROX2	14	75329594	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	791414	75329594	32019946	1172	65502											
RPS6KL1	83694	broad.mit.edu	37	chr14	75388058	75388058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagtcctcactaacatcgcGctccagggccagccggatct	9	15	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:75388058G>A	uc010tux.1	-	2	715	c.187C>T	c.(187-189)CGC>TGC	p.R63C	RPS6KL1_uc001xqw.2_Missense_Mutation_p.R63C|RPS6KL1_uc010asd.1_RNA|RPS6KL1_uc001xqy.1_Missense_Mutation_p.R63C	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	63						ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CTAACATCGCGCTCCAGGGCC	0.612													A	75388058	G	A	75388058	3	1	98	1	0	0	0	0	1	0	0	0	13659	1087	38	1	1478	1	RPS6KL1	14	75388058	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	58464	75388058	31961482	1173	65503											
ANGEL1	23357	broad.mit.edu	37	chr14	77269819	77269819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtctcggccatacttgcGtctctctgtaaaccaggaaa	9	11	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:77269819G>A	uc001xsv.2	-	7	1626	c.1513C>T	c.(1513-1515)CGC>TGC	p.R505C	ANGEL1_uc010tvf.1_Intron	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	angel homolog 1	505										ovary(2)|central_nervous_system(1)|skin(1)	4			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CCATACTTGCGTCTCTCTGTA	0.478													A	77269819	G	A	77269819	3	1	98	1	0	0	0	0	1	0	0	0	608	1145	40	1	515	1	ANGEL1	14	77269819	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1881761	77269819	30079721	1174	65504											
C14orf4	64207	broad.mit.edu	37	chr14	77492633	77492633	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcatgggacagctggcGtccaggtagggctggggcag	20	9	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:77492633G>A	uc001xsy.2	-	1	2402	c.1503C>T	c.(1501-1503)GAC>GAT	p.D501D		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	chromosome 14 open reading frame 4	501						nucleus					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)		GACAGCTGGCGTCCAGGTAGG	0.483													A	77492633	G	A	77492633	2	1	98	1	0	0	0	0	0	0	0	1	1773	1136	40	1		1	C14orf4	14	77492633	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	222814	77492633	29856907	1175	65505											
POMT2	29954	broad.mit.edu	37	chr14	77767578	77767578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgagccagaaccaccagGgggcagagaagggcctgaaa	16	10	0	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:77767578G>A	uc001xti.2	-	6	872	c.671C>T	c.(670-672)CCC>CTC	p.P224L	POMT2_uc001xth.1_5'Flank|POMT2_uc010asr.2_Missense_Mutation_p.P113L	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	224					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GAACCACCAGGGGGCAGAGAA	0.542											OREG0022837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	77767578	G	A	77767578	3	1	98	1	0	0	0	0	1	0	0	0	12246	1232	43	4	1645	4	POMT2	14	77767578	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	274945	77767578	29581962	1176	65506											
C14orf174	161394	broad.mit.edu	37	chr14	77857510	77857510	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttatctgaatttgtcaaaGcagcaggattacaggattat	8	6	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:77857510G>T	uc001xtq.1	+	3	1948	c.1948G>T	c.(1948-1950)GCA>TCA	p.A650S		NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	hypothetical protein LOC161394	650											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)		ATTTGTCAAAGCAGCAGGATT	0.403													T	77857510	G	T	77857510	3	4	98	1	0	0	0	0	1	0	0	0	1759	971	34	5	1958	5	C14orf174	14	77857510	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	89932	77857510	29492030	1177	65507											
C14orf148	122945	broad.mit.edu	37	chr14	77889208	77889208	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccatactcaaactgcagggActcaaggtcctggagcatgt	10	12	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:77889208A>G	uc001xtr.2	-	1	172	c.25T>C	c.(25-27)TCC>CCC	p.S9P	C14orf148_uc010tvi.1_Missense_Mutation_p.S9P	NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	hypothetical protein LOC122945 isoform 1	9					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		AACTGCAGGGACTCAAGGTCC	0.517													G	77889208	A	G	77889208	3	3	98	1	0	0	0	0	1	0	0	0	1751	275	10	3	1147	3	C14orf148	14	77889208	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	31698	77889208	29460332	1178	65508											
NRXN3	9369	broad.mit.edu	37	chr14	78709651	78709651	+	RNA	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacctggatgatggcggcgTctgcgacttcctatgcctct	11	13	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:78709651T>G	uc001xum.1	+	2		c.1008T>G						Q9Y4C0	NRX3A_HUMAN	Homo sapiens mRNA for KIAA0743 protein, partial cds.						axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GATGGCGGCGTCTGCGACTTC	0.602													G	78709651	T	G	78709651	1	3	98	0	1	0	0	0	0	0	0	0	10667	1682	58	5		5	NRXN3	14	78709651	RNA	SNP	T	TCGA-BR-8591-01A-11D-2394-08	820443	78709651	28639889	1179	65509											
NRXN3	9369	broad.mit.edu	37	chr14	79175609	79175609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgtctcgcctggcccGgattgcggacaccaagatga	14	12	1	2	rs148738050		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:79175609G>A	uc001xun.2	+	4	643	c.152G>A	c.(151-153)CGG>CAG	p.R51Q	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.R185Q	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	424	Laminin G-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGCCTGGCCCGGATTGCGGAC	0.458													A	79175609	G	A	79175609	3	1	98	1	0	0	0	0	1	0	0	0	10667	1116	39	1	158	1	NRXN3	14	79175609	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	465958	79175609	28173931	1180	65510											
NRXN3	9369	broad.mit.edu	37	chr14	79433724	79433724	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggttatcaatggtgccaAaaatctggatttgaaaggta	10	5	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:79433724A>C	uc001xun.2	+	10	2323	c.1832A>C	c.(1831-1833)AAA>ACA	p.K611T	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.K736T	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	984	Extracellular (Potential).|Laminin G-like 5.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AATGGTGCCAAAAATCTGGAT	0.393													C	79433724	A	C	79433724	3	2	98	1	0	0	0	0	1	0	0	0	10667	14	1	5	1862	5	NRXN3	14	79433724	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	258115	79433724	27915816	1181	65511											
FLRT2	23768	broad.mit.edu	37	chr14	86088243	86088243	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agaccatttcacgggctgctCttgcccagctcttgaagctt	9	13	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:86088243C>T	uc001xvr.2	+	2	1152	c.385C>T	c.(385-387)CTT>TTT	p.L129F	FLRT2_uc010atd.2_Missense_Mutation_p.L129F	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	129	LRR 3.|Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ACGGGCTGCTCTTGCCCAGCT	0.512													T	86088243	C	T	86088243	3	4	98	1	0	0	0	0	1	0	0	0	5939	913	32	4	387	4	FLRT2	14	86088243	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	6654519	86088243	21261297	1182	65512											
FLRT2	23768	broad.mit.edu	37	chr14	86088495	86088495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagcgtcttattgtggacGggaacctcctgaccaacaag	12	10	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:86088495G>A	uc001xvr.2	+	2	1404	c.637G>A	c.(637-639)GGG>AGG	p.G213R	FLRT2_uc010atd.2_Missense_Mutation_p.G213R	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	213	Extracellular (Potential).|LRR 7.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TATTGTGGACGGGAACCTCCT	0.507													A	86088495	G	A	86088495	3	1	98	1	0	0	0	0	1	0	0	0	5939	1116	39	1	639	1	FLRT2	14	86088495	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	252	86088495	21261045	1183	65513											
EML5	161436	broad.mit.edu	37	chr14	89154769	89154769	+	Frame_Shift_Del	DEL	T	T	-													ctgcacacatcattgtgtcaTttttccccagtgtgcctatg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:89154768_89154768AT>A	uc021ryf.1	-	17	2838	c.2589_2589AT>T	c.(2587-2589)aatfs	p.N863fs	EML5_uc021ryg.1_Frame_Shift_Del_p.N863fs|EML5_uc001xxh.1_Intron	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	863						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCATTGTGTCATTTTTCCCCA	0.393													-	89154769	T	-	89154769	7	5	98	1	0	1	0	1	0	0	0	0	5100	1493	52	0	3449	0	EML5	14	89154769	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	3066274	89154769	18194771	1184	65514											
TTC8	123016	broad.mit.edu	37	chr14	89337945	89337945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctttttaacaatctggggCtgtgttgcttctatgcccag	10	9	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:89337945C>T	uc010ath.2	+	12	1284	c.1150C>T	c.(1150-1152)CTG>TTG	p.L384L	TTC8_uc001xxl.2_Silent_p.L129L|TTC8_uc010ati.2_Silent_p.L170L|TTC8_uc001xxm.2_Silent_p.L328L|TTC8_uc010atj.2_Silent_p.L103L|TTC8_uc001xxi.2_Silent_p.L368L|TTC8_uc001xxj.2_Silent_p.L358L|TTC8_uc001xxk.2_Silent_p.L328L	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8 isoform B	394	TPR 6.				cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding				0						CAATCTGGGGCTGTGTTGCTT	0.438									Bardet-Biedl_syndrome				T	89337945	C	T	89337945	2	4	98	1	0	0	0	0	0	0	0	1	16711	796	28	2		2	TTC8	14	89337945	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	183176	89337945	18011595	1185	65515											
KCNK13	56659	broad.mit.edu	37	chr14	90651285	90651286	+	Frame_Shift_Ins	INS	-	-	G													ccgggacaatgaattctcagINSggggggtgggagcctttgca							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:90651284_90651285A>AG	uc001xye.1	+	1	1606_1607	c.1164_1165A>AG	c.(1162-1167)tcagggfs	p.S388fs		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	388						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.G389W(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ATGAATTCTCAGGGGGGGTGGG	0.589													G	90651286	-	G	90651285	7	5	98	1	0	1	1	0	0	0	0	0	8061	1000	35	0	1171	0	KCNK13	14	90651285	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	1313340	90651285	16698255	1186	65516											
CCDC88C	440193	broad.mit.edu	37	chr14	91805636	91805636	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcacagctcctgcctgacGcgccgcagcctggccttggt	11	17	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:91805636G>T	uc010aty.2	-	8	894	c.795C>A	c.(793-795)CGC>CGA	p.R265R	CCDC88C_uc010twk.1_Silent_p.R229R	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	265	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				CCTGCCTGACGCGCCGCAGCC	0.627													T	91805636	G	T	91805636	2	4	98	1	0	0	0	0	0	0	0	1	2865	1074	38	5		5	CCDC88C	14	91805636	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1154351	91805636	15543904	1187	65517											
CATSPERB	79820	broad.mit.edu	37	chr14	92140520	92140520	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaaatattcaatatcatacCtcacttagggttctgtttct	4	8	5	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:92140520C>A	uc001xzs.1	-	12	1118	c.978G>T	c.(976-978)GAG>GAT	p.E326D		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	326					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AATATCATACCTCACTTAGGG	0.313													A	92140520	C	A	92140520	3	1	98	1	0	0	0	0	1	0	0	0	2691	695	24	5	2436	5	CATSPERB	14	92140520	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	334884	92140520	15209020	1188	65518											
SLC24A4	123041	broad.mit.edu	37	chr14	92922911	92922911	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccaccaccgccagagccagAgccggtggaggctgacttcc	13	16	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:92922911A>T	uc001yak.2	+	12	1187	c.1163A>T	c.(1162-1164)GAG>GTG	p.E388V	SLC24A4_uc001yai.2_Missense_Mutation_p.E341V|SLC24A4_uc010twm.1_Missense_Mutation_p.E386V|SLC24A4_uc001yaj.2_Missense_Mutation_p.E369V|SLC24A4_uc010auj.2_Missense_Mutation_p.E277V|SLC24A4_uc010twn.1_Missense_Mutation_p.E161V|SLC24A4_uc001yan.2_Missense_Mutation_p.E99V	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	405	Extracellular (Potential).|Poly-Pro.					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCAGAGCCAGAGCCGGTGGAG	0.602											OREG0022876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	92922911	A	T	92922911	3	4	98	1	0	0	0	0	1	0	0	0	14468	304	11	5	1209	5	SLC24A4	14	92922911	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	782391	92922911	14426629	1189	65519											
COX8C	341947	broad.mit.edu	37	chr14	93814398	93814398	+	Frame_Shift_Del	DEL	T	T	-													tggctgttggacttgtggtgTtttttacgaccttcttaaca							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:93814397_93814397GT>G	uc001ybt.1	+	1	228	c.150_150GT>G	c.(148-150)gtgfs	p.V50fs	UNC79_uc001ybs.1_Intron	NM_182971	NP_892016	Q7Z4L0	COX8C_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIIC (COX8C), nuclear gene encoding mitochondrial protein, mRNA.	50						integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity			large_intestine(1)|lung(1)|prostate(2)|skin(1)	5		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		GACTTGTGGTGTTTTTTACGA	0.453													-	93814398	T	-	93814398	7	5	98	1	0	1	0	1	0	0	0	0	3786	1725	60	0	157	0	COX8C	14	93814398	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	891487	93814398	13535142	1190	65520											
C14orf49	161176	broad.mit.edu	37	chr14	95899742	95899742	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctggcacccgagcctccAgctcctgggggaaacagcag	12	15	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:95899742A>G	uc001yei.3	-	15	2558	c.2543T>C	c.(2542-2544)CTG>CCG	p.L848P	C14orf49_uc010avi.2_Missense_Mutation_p.L843P	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	848	Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CCGAGCCTCCAGCTCCTGGGG	0.577													G	95899742	A	G	95899742	3	3	98	1	0	0	0	0	1	0	0	0	1776	188	7	3	396	3	C14orf49	14	95899742	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	2085344	95899742	11449798	1191	65521											
BDKRB1	623	broad.mit.edu	37	chr14	96730667	96730667	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcctcctaccactggcTgcgatcgtcttcttcaacta	7	14	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:96730667T>C	uc001yfh.2	+	3	856	c.648T>C	c.(646-648)GCT>GCC	p.A216A	BDKRB1_uc010avn.2_Silent_p.A216A	NM_000710	NP_000701	P46663	BKRB1_HUMAN	bradykinin receptor B1	216	Helical; Name=5; (Potential).				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			ovary(3)	3		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TACCACTGGCTGCGATCGTCT	0.572													C	96730667	T	C	96730667	2	2	98	1	0	0	0	0	0	0	0	1	1392	1567	55	3		3	BDKRB1	14	96730667	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	830925	96730667	10618873	1192	65522											
AK7	122481	broad.mit.edu	37	chr14	96949517	96949517	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacgcgagcaccaggaggcCgtggagatggcagagaagat	17	8	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:96949517C>T	uc001yfn.2	+	16	1979	c.1935C>T	c.(1933-1935)GCC>GCT	p.A645A		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7	645	Potential.|Glu-rich.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ACCAGGAGGCCGTGGAGATGG	0.597													T	96949517	C	T	96949517	2	4	98	1	0	0	0	0	0	0	0	1	444	639	23	1		1	AK7	14	96949517	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	218850	96949517	10400023	1193	65523											
YY1	7528	broad.mit.edu	37	chr14	100728701	100728701	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagatcattggagagaactCacctcctgattattcagaat	7	9	3	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:100728701C>T	uc001ygy.1	+	2	1220	c.740C>T	c.(739-741)TCA>TTA	p.S247L		NM_003403	NP_003394	P25490	TYY1_HUMAN	YY1 transcription factor	247					cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding				0		Melanoma(154;0.152)				GGAGAGAACTCACCTCCTGAT	0.388													T	100728701	C	T	100728701	3	4	98	1	0	0	0	0	1	0	0	0	17504	838	29	4	746	4	YY1	14	100728701	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3779184	100728701	6620839	1194	65524											
DYNC1H1	1778	broad.mit.edu	37	chr14	102506738	102506738	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacttgattgcaaaggttcaGgcagacgaggtgattgttct	13	6	2	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:102506738G>T	uc001yks.2	+	63	12020	c.11856G>T	c.(11854-11856)CAG>CAT	p.Q3952H		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3952					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CAAAGGTTCAGGCAGACGAGG	0.522													T	102506738	G	T	102506738	3	4	98	1	0	0	0	0	1	0	0	0	4841	991	35	5	12106	5	DYNC1H1	14	102506738	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1778037	102506738	4842802	1195	65525											
RAGE	5891	broad.mit.edu	37	chr14	102698915	102698915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagggcctggtgggcggCgattctctcatcgggatcat	15	11	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:102698915C>T	uc001ylm.2	-	9	1049	c.823G>A	c.(823-825)GCC>ACC	p.A275T	RAGE_uc010txv.1_Missense_Mutation_p.A245T|RAGE_uc001yln.2_Missense_Mutation_p.A93T|RAGE_uc001ylh.2_RNA|RAGE_uc001yli.2_RNA|RAGE_uc001yll.2_RNA|RAGE_uc001ylj.2_RNA|RAGE_uc001ylk.2_RNA	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN	MAPK/MAK/MRK overlapping kinase	275	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						TGGTGGGCGGCGATTCTCTCA	0.552													T	102698915	C	T	102698915	3	4	98	1	0	0	0	0	1	0	0	0	13006	768	27	1	452	1	RAGE	14	102698915	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	192177	102698915	4650625	1196	65526											
TECPR2	9895	broad.mit.edu	37	chr14	102901155	102901155	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacagtggctgcctgggacCagagctgatgaaggcagccc	15	11	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:102901155C>T	uc001ylw.1	+	9	2149	c.2001C>T	c.(1999-2001)ACC>ACT	p.T667T	TECPR2_uc010awl.2_Silent_p.T667T|TECPR2_uc010txx.1_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	667							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						TGCCTGGGACCAGAGCTGATG	0.602													T	102901155	C	T	102901155	2	4	98	1	0	0	0	0	0	0	0	1	15741	581	21	4		4	TECPR2	14	102901155	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	202240	102901155	4448385	1197	65527											
KIAA0284	283638	broad.mit.edu	37	chr14	105356064	105356064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacccttatggtttcatcGtgcagacggcagagattgcg	12	10	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:105356064G>A	uc010axb.2	+	13	4071	c.3847G>A	c.(3847-3849)GTG>ATG	p.V1283M	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.V1213M|KIAA0284_uc001yps.2_Missense_Mutation_p.V1224M|KIAA0284_uc001ypt.2_Translation_Start_Site	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	1318						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		TGGTTTCATCGTGCAGACGGC	0.527													A	105356064	G	A	105356064	3	1	98	1	0	0	0	0	1	0	0	0	8166	1145	40	1	3893	1	KIAA0284	14	105356064	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2454909	105356064	1993476	1198	65528											
PLD4	122618	broad.mit.edu	37	chr14	105397162	105397162	+	Frame_Shift_Del	DEL	G	G	-													ttccagacctactgggtactGggggtgcccaaggctgtcct							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:105397161_105397161TG>T	uc010tyl.1	+	6	979	c.821_821TG>T	c.(820-822)ctgfs	p.L274fs	PLD4_uc001ypu.1_Frame_Shift_Del_p.L267fs	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	Homo sapiens phospholipase D family, member 4 (PLD4), mRNA.	267					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	TACTGGGTACTGGGGGTGCCC	0.577													-	105397162	G	-	105397162	7	5	98	1	0	1	0	1	0	0	0	0	12048	1335	47	0	823	0	PLD4	14	105397162	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	41098	105397162	1952378	1199	65529											
PACS2	23241	broad.mit.edu	37	chr14	105843116	105843116	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtgcaggtcctggactcGgagcaggaccctgcggagca	15	14	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:105843116G>A	uc001yqt.2	+	9	988	c.813G>A	c.(811-813)TCG>TCA	p.S271S	PACS2_uc001yqs.2_Silent_p.S196S|PACS2_uc001yqv.2_Silent_p.S271S|PACS2_uc001yqu.2_Silent_p.S271S	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	271					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TCCTGGACTCGGAGCAGGACC	0.682													A	105843116	G	A	105843116	2	1	98	1	0	0	0	0	0	0	0	1	11373	1103	39	1		1	PACS2	14	105843116	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	445954	105843116	1506424	1200	65530											
OR4M2	390538	broad.mit.edu	37	chr15	22369024	22369024	+	Frame_Shift_Del	DEL	G	G	-													cctggtggctctctcctggaGggggggcttcattcattcta							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:22369023_22369023AG>A	uc010tzu.2	+	0	546	c.448_448AG>A	c.(448-450)aggfs	p.R150fs	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTT	0.498													-	22369024	G	-	22369024	7	5	98	1	0	1	0	1	0	0	0	0	11076	1000	35	0	451	0	OR4M2	15	22369024	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08		22369024	80162368	1201	65531											
NDN	4692	broad.mit.edu	37	chr15	23931878	23931878	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgaccagcgcaaactccaTggtgtgcaggctggttagcc	12	11	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:23931878T>C	uc001ywk.2	-	1	573	c.487A>G	c.(487-489)ATG>GTG	p.M163V		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	163	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GCAAACTCCATGGTGTGCAGG	0.642									Prader-Willi_syndrome				C	23931878	T	C	23931878	3	2	98	1	0	0	0	0	1	0	0	0	10247	1464	51	3	482	3	NDN	15	23931878	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1562854	23931878	78599514	1202	65532											
ATP10A	57194	broad.mit.edu	37	chr15	25940151	25940151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatcacgaggctgggtctgCggccagaggcagtggacgtg	18	10	2	1	rs150976669		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:25940151C>T	uc010ayu.2	-	14	3009	c.2903G>A	c.(2902-2904)CGC>CAC	p.R968H		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	968	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCTGGGTCTGCGGCCAGAGGC	0.602													T	25940151	C	T	25940151	3	4	98	1	0	0	0	0	1	0	0	0	1116	768	27	1	1628	1	ATP10A	15	25940151	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2008273	25940151	76591241	1203	65533											
HERC2	8924	broad.mit.edu	37	chr15	28361831	28361831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaagcggaacatgctgCtgtgcacgggtgctctggcg	16	11	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:28361831C>T	uc001zbj.2	-	88	13695	c.13589G>A	c.(13588-13590)AGC>AAC	p.S4530N	HERC2_uc001zbi.2_Missense_Mutation_p.S219N	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4530	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAACATGCTGCTGTGCACGGG	0.602													T	28361831	C	T	28361831	3	4	98	1	0	0	0	0	1	0	0	0	7058	797	28	2	939	2	HERC2	15	28361831	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2421680	28361831	74169561	1204	65534											
TRPM1	4308	broad.mit.edu	37	chr15	31323186	31323186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatgaattctactcttacGgtctatctggtctgcaaaca	6	10	5	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:31323186G>A	uc001zfm.2	-	22	3189	c.3061C>T	c.(3061-3063)CTC>TTC	p.L1021F	TRPM1_uc010azy.2_Missense_Mutation_p.L928F|TRPM1_uc001zfl.2_Intron	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1021	Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTACTCTTACGGTCTATCTGG	0.413													A	31323186	G	A	31323186	3	1	98	1	0	0	0	0	1	0	0	0	16582	1130	39	1	1774	1	TRPM1	15	31323186	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2961355	31323186	71208206	1205	65535											
TRPM1	4308	broad.mit.edu	37	chr15	31355374	31355374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgtccgaggcacgtccGctgccatcacaaatcaccac	9	15	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:31355374G>A	uc001zfm.2	-	7	974	c.846C>T	c.(844-846)AGC>AGT	p.S282S	TRPM1_uc010azy.2_Silent_p.S195S|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	282	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGGCACGTCCGCTGCCATCAC	0.582													A	31355374	G	A	31355374	2	1	98	1	0	0	0	0	0	0	0	1	16582	1078	38	1		1	TRPM1	15	31355374	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	32188	31355374	71176018	1206	65536											
OTUD7A	161725	broad.mit.edu	37	chr15	31776544	31776544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgacggcgacgtgctggcCgacgcaccagactcctcctt	11	17	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:31776544C>T	uc001zfq.2	-	11	1827	c.1734G>A	c.(1732-1734)TCG>TCA	p.S578S	OTUD7A_uc001zfr.2_Silent_p.S585S	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	578						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		ACGTGCTGGCCGACGCACCAG	0.711													T	31776544	C	T	31776544	2	4	98	1	0	0	0	0	0	0	0	1	11318	639	23	1		1	OTUD7A	15	31776544	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	421170	31776544	70754848	1207	65537											
OTUD7A	161725	broad.mit.edu	37	chr15	31822996	31822996	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcgtgcacacagtggacCaccagttcaggcgacctgga	12	13	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:31822996C>T	uc001zfq.2	-	4	659	c.566G>A	c.(565-567)TGG>TAG	p.W189*	OTUD7A_uc001zfr.2_Nonsense_Mutation_p.W189*	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	189	Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CACAGTGGACCACCAGTTCAG	0.532													T	31822996	C	T	31822996	4	4	98	1	0	0	0	0	0	1	0	0	11318	595	21	4	2246	4	OTUD7A	15	31822996	Nonsense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	46452	31822996	70708396	1208	65538											
CHRNA7	1139	broad.mit.edu	37	chr15	32460210	32460210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccggggaggacaaggtgCgcccggcctgccagcacaag	17	14	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:32460210C>T	uc001zft.2	+	10	1132	c.1060C>T	c.(1060-1062)CGC>TGC	p.R354C	uc001zfv.1_Intron|CHRNA7_uc010baf.2_Missense_Mutation_p.R173C|CHRNA7_uc010bak.2_Missense_Mutation_p.R269C	NM_000746	NP_000737	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7	354	Cytoplasmic (Potential).				activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			ovary(1)	1		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	GGACAAGGTGCGCCCGGCCTG	0.652													T	32460210	C	T	32460210	3	4	98	1	0	0	0	0	1	0	0	0	3388	768	27	1	1098	1	CHRNA7	15	32460210	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	637214	32460210	70071182	1209	65539											
FMN1	342184	broad.mit.edu	37	chr15	33192195	33192195	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatacccgacttttgacatcCttgagtttgggcagaatttc	8	9	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:33192195C>A	uc001zhf.3	-	10	2970	c.2970G>T	c.(2968-2970)AAG>AAT	p.K990N		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	1213	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TTTTGACATCCTTGAGTTTGG	0.343													A	33192195	C	A	33192195	3	1	98	1	0	0	0	0	1	0	0	0	5949	680	24	5	652	5	FMN1	15	33192195	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	731985	33192195	69339197	1210	65540											
RYR3	6263	broad.mit.edu	37	chr15	33872197	33872197	+	Frame_Shift_Del	DEL	C	C	-													cggaaacaatcgcacagctgCccccatcaccctgcctatag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:33872196_33872196GC>G	uc001zhi.3	+	12	1358	c.1288_1288GC>G	c.(1288-1290)gccfs	p.A430fs	RYR3_uc010bar.3_Frame_Shift_Del_p.A430fs	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	430					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.A430A(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCGCACAGCTGCCCCCATCAC	0.547													-	33872197	C	-	33872197	7	5	98	1	0	1	0	1	0	0	0	0	13770	739	26	0	1339	0	RYR3	15	33872197	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	680002	33872197	68659195	1211	65541											
RYR3	6263	broad.mit.edu	37	chr15	34072425	34072425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccaggcaacgccctgccCttggagaatgtctggcctcg	11	14	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:34072425C>T	uc001zhi.2	+	65	9221	c.9151C>T	c.(9151-9153)CTT>TTT	p.L3051F	RYR3_uc010bar.2_Missense_Mutation_p.L3051F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3051	Helical; Name=M''; (Potential).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACGCCCTGCCCTTGGAGAATG	0.547													T	34072425	C	T	34072425	3	4	98	1	0	0	0	0	1	0	0	0	13770	681	24	4	9409	4	RYR3	15	34072425	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	200228	34072425	68458967	1212	65542											
SLC12A6	9990	broad.mit.edu	37	chr15	34532905	34532905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagttctctaggaagttcCccacgatgacagagcccaca	9	13	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:34532905C>T	uc001zhw.2	-	18	2557	c.2393G>A	c.(2392-2394)GGG>GAG	p.G798E	SLC12A6_uc001zhv.2_Missense_Mutation_p.G747E|SLC12A6_uc001zhx.2_Missense_Mutation_p.G783E|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.G739E|SLC12A6_uc001zib.2_Missense_Mutation_p.G789E|SLC12A6_uc001zic.2_Missense_Mutation_p.G798E|SLC12A6_uc010bau.2_Missense_Mutation_p.G798E|SLC12A6_uc001zid.2_Missense_Mutation_p.G739E|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.G610E	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	798					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TAGGAAGTTCCCCACGATGAC	0.468													T	34532905	C	T	34532905	3	4	98	1	0	0	0	0	1	0	0	0	14387	623	22	4	1091	4	SLC12A6	15	34532905	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	460480	34532905	67998487	1213	65543											
SLC12A6	9990	broad.mit.edu	37	chr15	34544457	34544458	+	Frame_Shift_Ins	INS	-	-	A													ttcatcacaggtggcattgaINSaaaattgactcgagttacag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:34544456_34544457G>GA	uc001zhw.3	-	8	1411_1412	c.1247_1248C>TC	c.(1246-1248)ttcfs	p.F416fs	SLC12A6_uc001zhv.3_Frame_Shift_Ins_p.F365fs|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Frame_Shift_Ins_p.F401fs|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Frame_Shift_Ins_p.F357fs|SLC12A6_uc001zib.3_Frame_Shift_Ins_p.F407fs|SLC12A6_uc001zic.3_Frame_Shift_Ins_p.F416fs|SLC12A6_uc010bau.3_Frame_Shift_Ins_p.F416fs|SLC12A6_uc001zid.3_Frame_Shift_Ins_p.F357fs|SLC12A6_uc001zht.3_5'Flank|SLC12A6_uc001zhu.3_Frame_Shift_Ins_p.F228fs	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	416					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AGGTGGCATTGAAAAATTGACT	0.396													A	34544458	-	A	34544457	7	5	98	1	0	1	1	0	0	0	0	0	14387	246	9	0	2273	0	SLC12A6	15	34544457	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	11552	34544457	67986935	1214	65544											
SPRED1	161742	broad.mit.edu	37	chr15	38641697	38641697	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcggcaaatatccaaggaAtgtggaagcctaaagtccca	10	10	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:38641697A>C	uc001zka.3	+	6	992	c.657A>C	c.(655-657)GAA>GAC	p.E219D		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	219					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TATCCAAGGAATGTGGAAGCC	0.343									Legius_syndrome				C	38641697	A	C	38641697	3	2	98	1	0	0	0	0	1	0	0	0	15091	98	4	5	679	5	SPRED1	15	38641697	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	4097240	38641697	63889695	1215	65545											
SPRED1	161742	broad.mit.edu	37	chr15	38643475	38643475	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtatttaagacgcagccTtcctcattaaaaattaagaa	7	7	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:38643475T>G	uc001zka.3	+	7	1280	c.945T>G	c.(943-945)CCT>CCG	p.P315P		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	315					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGACGCAGCCTTCCTCATTAA	0.378									Legius_syndrome				G	38643475	T	G	38643475	2	3	98	1	0	0	0	0	0	0	0	1	15091	1596	56	5		5	SPRED1	15	38643475	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1778	38643475	63887917	1216	65546											
C15orf53	400359	broad.mit.edu	37	chr15	38990598	38990598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctacctaactgtgccccGccgttcaccacttcctgtct	5	19	2	0	rs143270407	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:38990598G>A	uc001zkf.1	+	2	402	c.392G>A	c.(391-393)CGC>CAC	p.R131H		NM_207444	NP_997327	Q8NAA6	CO053_HUMAN	hypothetical protein LOC400359	131											0		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		ACTGTGCCCCGCCGTTCACCA	0.552													A	38990598	G	A	38990598	3	1	98	1	0	0	0	0	1	0	0	0	1801	1087	38	1	398	1	C15orf53	15	38990598	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	347123	38990598	63540794	1217	65547											
THBS1	7057	broad.mit.edu	37	chr15	39874832	39874832	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacagggcccagctgtacaTcgactgtgaaaagatggaga	13	8	0	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:39874832T>C	uc001zkh.2	+	3	685	c.506T>C	c.(505-507)ATC>ACC	p.I169T		NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	169	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CAGCTGTACATCGACTGTGAA	0.572													C	39874832	T	C	39874832	3	2	98	1	0	0	0	0	1	0	0	0	15850	1435	50	3	512	3	THBS1	15	39874832	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	884234	39874832	62656560	1218	65548											
C15orf52	388115	broad.mit.edu	37	chr15	40631782	40631783	+	Frame_Shift_Ins	INS	-	-	C													ctggtgtggtcacagccatcINScccccctgctctgcctgccg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:40631781_40631782T>TC	uc001zlh.4	-	2	310_311	c.294_295A>GA	c.(292-297)gggatgfs	p.G98fs	C15orf52_uc001zli.1_5'UTR|C15orf52_uc010ucn.2_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	98								p.M99fs*3(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GTCACAGCCATCCCCCCCTGCT	0.649													C	40631783	-	C	40631782	7	5	98	1	0	1	1	0	0	0	0	0	1800	842	30	0	1346	0	C15orf52	15	40631782	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	756950	40631782	61899610	1219	65549											
DISP2	85455	broad.mit.edu	37	chr15	40656425	40656425	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcttttcttctcttccacAggcaggaacgagccttccag	7	14	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:40656425A>G	uc001zlk.1	+	3	539	c.450_splice	c.e3-2	p.R150_splice		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B						smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCTCTTCCACAGGCAGGAACG	0.602													G	40656425	A	G	40656425	5	3	98	1	0	0	0	0	0	0	1	0	4540	202	7	3	458	3	DISP2	15	40656425	Splice_Site	SNP	A	TCGA-BR-8591-01A-11D-2394-08	24643	40656425	61874967	1220	65550											
CASC5	57082	broad.mit.edu	37	chr15	40916700	40916700	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtcaagatctgggggagaTgactaaacttaattcaaagc	10	6	3	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:40916700T>C	uc010bbs.1	+	11	4477	c.4316T>C	c.(4315-4317)ATG>ACG	p.M1439T	CASC5_uc010ucq.1_Missense_Mutation_p.M1263T|CASC5_uc001zme.2_Missense_Mutation_p.M1413T|CASC5_uc010bbt.1_Missense_Mutation_p.M1413T	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	1439					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTGGGGGAGATGACTAAACTT	0.348													C	40916700	T	C	40916700	3	2	98	1	0	0	0	0	1	0	0	0	2663	1464	51	3	4354	3	CASC5	15	40916700	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	260275	40916700	61614692	1221	65551											
VPS18	57617	broad.mit.edu	37	chr15	41191917	41191917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggggcattggactgtgggCgccctgactctctgctgagc	15	11	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:41191917C>T	uc001zne.2	+	4	1240	c.901C>T	c.(901-903)CGC>TGC	p.R301C		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	301					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGACTGTGGGCGCCCTGACTC	0.647													T	41191917	C	T	41191917	3	4	98	1	0	0	0	0	1	0	0	0	17191	768	27	1	915	1	VPS18	15	41191917	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	275217	41191917	61339475	1222	65552											
NUSAP1	51203	broad.mit.edu	37	chr15	41650412	41650412	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcaatatattgagagaAaaaagaaacattttgaagaa	7	2	1	6			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:41650412A>G	uc001zns.3	+	6	846	c.616A>G	c.(616-618)AAA>GAA	p.K206E	NUSAP1_uc001znq.3_Missense_Mutation_p.K11E|NUSAP1_uc001znr.3_Missense_Mutation_p.K206E|NUSAP1_uc010bce.2_Missense_Mutation_p.K206E|NUSAP1_uc001znt.3_Missense_Mutation_p.K191E|NUSAP1_uc001znv.3_Missense_Mutation_p.K205E|NUSAP1_uc001znu.3_Missense_Mutation_p.K205E|NUSAP1_uc010ucw.1_Missense_Mutation_p.K183E|NUSAP1_uc001znw.3_Missense_Mutation_p.K11E	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	206					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding				0		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		TATTGAGAGAAAAAAGAAACA	0.264													G	41650412	A	G	41650412	3	3	98	1	0	0	0	0	1	0	0	0	10778	15	1	3	638	3	NUSAP1	15	41650412	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	458495	41650412	60880980	1223	65553											
MGA	23269	broad.mit.edu	37	chr15	42032174	42032174	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcattgcatccagccaataGgctagctgcttatatcacag	9	11	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:42032174G>T	uc010uda.1	+	3	332	c.206G>T	c.(205-207)AGG>ATG	p.R69M	MGA_uc010ucy.1_Intron|MGA_uc010ucz.1_Intron	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CCAGCCAATAGGCTAGCTGCT	0.498													T	42032174	G	T	42032174	3	4	98	1	0	0	0	0	1	0	0	0	9540	1015	35	5		5	MGA	15	42032174	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	381762	42032174	60499218	1224	65554											
MAPKBP1	23005	broad.mit.edu	37	chr15	42109622	42109622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcatgatcagctgtggagCagacaagagcatctacttcc	10	12	2	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:42109622C>T	uc001zok.3	+	16	2052	c.1766C>T	c.(1765-1767)GCA>GTA	p.A589V	MAPKBP1_uc001zoj.3_Missense_Mutation_p.A583V|MAPKBP1_uc010bcj.2_Missense_Mutation_p.A90V|MAPKBP1_uc010bci.2_Missense_Mutation_p.A583V|MAPKBP1_uc010udb.1_Missense_Mutation_p.A422V|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Missense_Mutation_p.A90V	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	589	WD 9.									central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGCTGTGGAGCAGACAAGAGC	0.612													T	42109622	C	T	42109622	3	4	98	1	0	0	0	0	1	0	0	0	9292	710	25	2	1824	2	MAPKBP1	15	42109622	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	77448	42109622	60421770	1225	65555											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42139713	42139713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgactccttccgggagtactCggcccctggtgagctgctgt	13	14	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:42139713C>T	uc010bco.2	+	19	2227	c.2126C>T	c.(2125-2127)TCG>TTG	p.S709L	JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.S940L|JMJD7-PLA2G4B_uc010bcn.2_Intron|JMJD7-PLA2G4B_uc001zoq.3_Missense_Mutation_p.S410L	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	709	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						CGGGAGTACTCGGCCCCTGGT	0.667													T	42139713	C	T	42139713	3	4	98	1	0	0	0	0	1	0	0	0	7955	893	31	1	2913	1	JMJD7-PLA2G4B	15	42139713	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	30091	42139713	60391679	1226	65556											
SPTBN5	51332	broad.mit.edu	37	chr15	42178461	42178461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagtctggaaaatcccgcGcctccagctgcatctgcttc	10	15	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:42178461G>A	uc001zos.2	-	7	1220	c.887C>T	c.(886-888)GCG>GTG	p.A296V		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	331	Spectrin 1.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AAAATCCCGCGCCTCCAGCTG	0.622													A	42178461	G	A	42178461	3	1	98	1	0	0	0	0	1	0	0	0	15121	1087	38	1	10280	1	SPTBN5	15	42178461	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	38748	42178461	60352931	1227	65557											
GANC	2595	broad.mit.edu	37	chr15	42641671	42641671	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcacaggaagttttcattcTgttccagtgttctgatcaat	8	8	4	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:42641671T>G	uc001zpi.2	+	22	2823	c.2509T>G	c.(2509-2511)TGT>GGT	p.C837G	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_5'UTR	NM_198141	NP_937784	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	837					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			central_nervous_system(2)	2		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GTTTTCATTCTGTTCCAGTGT	0.393													G	42641671	T	G	42641671	3	3	98	1	0	0	0	0	1	0	0	0	6234	1580	55	5	2595	5	GANC	15	42641671	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	463210	42641671	59889721	1228	65558											
CAPN3	825	broad.mit.edu	37	chr15	42702149	42702149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaggacctgaagacacacGggttcacactggagtcctgc	11	12	1	2	rs140425651		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:42702149G>A	uc001zpn.1	+	19	2377	c.2071G>A	c.(2071-2073)GGG>AGG	p.G691R	CAPN3_uc001zpk.1_Missense_Mutation_p.G458R|CAPN3_uc001zpl.1_Missense_Mutation_p.G598R|CAPN3_uc010udf.1_Missense_Mutation_p.G604R|CAPN3_uc010udg.1_Missense_Mutation_p.G556R|CAPN3_uc001zpo.1_Missense_Mutation_p.G685R|CAPN3_uc001zpp.1_Missense_Mutation_p.G599R|CAPN3_uc001zpq.1_Missense_Mutation_p.G179R|CAPN3_uc010bcv.1_Missense_Mutation_p.G26R|CAPN3_uc001zpr.1_Missense_Mutation_p.G26R|CAPN3_uc001zps.1_Missense_Mutation_p.G26R|CAPN3_uc001zpt.1_Missense_Mutation_p.G26R	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	691	Domain IV.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GAAGACACACGGGTTCACACT	0.602													A	42702149	G	A	42702149	3	1	98	1	0	0	0	0	1	0	0	0	2628	1116	39	1	2197	1	CAPN3	15	42702149	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	60478	42702149	59829243	1229	65559											
TMEM62	80021	broad.mit.edu	37	chr15	43470863	43470863	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgtcttgagcaaaataaaCatcttctactattctgtgtt	5	8	4	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:43470863C>A	uc001zqr.2	+	12	1719	c.1440C>A	c.(1438-1440)AAC>AAA	p.N480K	TMEM62_uc010bda.2_Intron|TMEM62_uc001zqt.2_Missense_Mutation_p.N49K	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	480						integral to membrane				ovary(1)|breast(1)	2		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		GCAAAATAAACATCTTCTACT	0.328													A	43470863	C	A	43470863	3	1	98	1	0	0	0	0	1	0	0	0	16186	477	17	5	1486	5	TMEM62	15	43470863	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	768714	43470863	59060529	1230	65560											
ADAL	161823	broad.mit.edu	37	chr15	43641115	43641116	+	Frame_Shift_Ins	INS	-	-	A													tttctttagattccaaaccaINSaaaaaaagaaacacaaatac							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:43641114_43641115C>CA	uc010udo.2	+	9	1136_1137	c.562_563C>CA	c.(562-564)caafs	p.Q188fs	ADAL_uc001zrh.3_Frame_Shift_Ins_p.Q215fs|ADAL_uc001zri.2_Frame_Shift_Ins_p.Q100fs	NM_001159280	NP_001152752	Q6DHV7	ADAL_HUMAN	Homo sapiens adenosine deaminase-like (ADAL), transcript variant 1, mRNA.	215					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GATTCCAAACCAAAAAAAAGAA	0.455													A	43641116	-	A	43641115	7	5	98	1	0	1	1	0	0	0	0	0	233	130	5	0	674	0	ADAL	15	43641115	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	170252	43641115	58890277	1231	65561											
B2M	567	broad.mit.edu	37	chr15	45003781	45003782	+	Frame_Shift_Del	DEL	CT	CT	-													ccttagctgtgctcgcgctaCtctctctttctggcctggag					rs11553044		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:45003780_45003781ACT>A	uc001zuc.3	+	0	96_97	c.36_37ACT>A	c.(34-39)ctactcfs	p.L12fs	B2M_uc010uek.1_Frame_Shift_Del_p.L12fs|B2M_uc010bdx.1_Frame_Shift_Del_p.L12fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	12					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.L15fs*41(4)|p.A11fs*42(2)|p.L13F(2)|p.L12Q(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TGCTCGCGCTACTCTCTCTTTC	0.614													-	45003782	CT	-	45003781	7	5	98	1	0	1	0	1	0	0	0	0	1244	565	20	0	39	0	B2M	15	45003781	Frame_Shift_Del	DEL	CT	TCGA-BR-8591-01A-11D-2394-08	1362666	45003781	57527611	1232	65562											
B2M	567	broad.mit.edu	37	chr15	45007619	45007619	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcttttcccgatattcctcAggtactccaaagattcaggt	7	11	3	1	rs111482205		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:45007619A>G	uc001zuc.2	+	2	128	c.68_splice	c.e2-2	p.R23_splice	B2M_uc010uek.1_Splice_Site_p.R23_splice|B2M_uc010bdx.1_Splice_Site_p.R23_splice	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			ovary(2)|skin(1)	3		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GATATTCCTCAGGTACTCCAA	0.423													G	45007619	A	G	45007619	5	3	98	1	0	0	0	0	0	0	1	0	1244	202	7	3	72	3	B2M	15	45007619	Splice_Site	SNP	A	TCGA-BR-8591-01A-11D-2394-08	3838	45007619	57523773	1233	65563											
DUOX2	50506	broad.mit.edu	37	chr15	45398489	45398489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcagctggatgatgatgGgactgctcctctccttgggg	14	10	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:45398489G>A	uc010bea.2	-	17	2185	c.1982C>T	c.(1981-1983)CCC>CTC	p.P661L	DUOX2_uc001zun.2_Missense_Mutation_p.P661L	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	661	Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GATGATGATGGGACTGCTCCT	0.607													A	45398489	G	A	45398489	3	1	98	1	0	0	0	0	1	0	0	0	4801	1232	43	4	2736	4	DUOX2	15	45398489	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	390870	45398489	57132903	1234	65564											
DUOX2	50506	broad.mit.edu	37	chr15	45399570	45399570	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagacaaagacattgggctGcagggcactggggtcaatgt	14	9	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:45399570G>A	uc010bea.2	-	14	1869	c.1666C>T	c.(1666-1668)CAG>TAG	p.Q556*	DUOX2_uc001zun.2_Nonsense_Mutation_p.Q556*	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	556	Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ACATTGGGCTGCAGGGCACTG	0.532													A	45399570	G	A	45399570	4	1	98	1	0	0	0	0	0	1	0	0	4801	1328	46	2	3064	2	DUOX2	15	45399570	Nonsense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1081	45399570	57131822	1235	65565											
SEMA6D	80031	broad.mit.edu	37	chr15	48057167	48057167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggctctgaagctggcatGgtacttaaagttctggcaaa	12	7	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:48057167G>A	uc010bek.2	+	13	1701	c.1341G>A	c.(1339-1341)ATG>ATA	p.M447I	SEMA6D_uc001zvw.2_Missense_Mutation_p.M447I|SEMA6D_uc001zvx.1_Missense_Mutation_p.M447I|SEMA6D_uc001zvy.2_Missense_Mutation_p.M447I|SEMA6D_uc001zvz.2_Missense_Mutation_p.M447I|SEMA6D_uc001zwa.2_Missense_Mutation_p.M447I|SEMA6D_uc001zwb.2_Missense_Mutation_p.M447I|SEMA6D_uc001zwc.2_Missense_Mutation_p.M447I	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	447	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AAGCTGGCATGGTACTTAAAG	0.468													A	48057167	G	A	48057167	3	1	98	1	0	0	0	0	1	0	0	0	14042	1348	47	4	1387	4	SEMA6D	15	48057167	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2657597	48057167	54474225	1236	65566											
FBN1	2200	broad.mit.edu	37	chr15	48936954	48936954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggcgatctccagcagacGccctcgacgcatgatgccga	12	15	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:48936954G>A	uc001zwx.1	-	2	341	c.13C>T	c.(13-15)CGT>TGT	p.R5C		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	5					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCCAGCAGACGCCCTCGACGC	0.692													A	48936954	G	A	48936954	3	1	98	1	0	0	0	0	1	0	0	0	5702	1087	38	1	8862	1	FBN1	15	48936954	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	879787	48936954	53594438	1237	65567											
SECISBP2L	9728	broad.mit.edu	37	chr15	49303986	49303986	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatctaagtgcatttctgtTggttcctcggatcccaaaag	8	9	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:49303986T>C	uc001zxe.1	-	13	1940	c.1806A>G	c.(1804-1806)CCA>CCG	p.P602P	SECISBP2L_uc001zxd.1_Silent_p.P557P|SECISBP2L_uc010bep.1_Silent_p.P364P	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	602										breast(1)|skin(1)	2						GCATTTCTGTTGGTTCCTCGG	0.418													C	49303986	T	C	49303986	2	2	98	1	0	0	0	0	0	0	0	1	14007	1799	63	3		3	SECISBP2L	15	49303986	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	367032	49303986	53227406	1238	65568											
MYO5C	55930	broad.mit.edu	37	chr15	52487639	52487639	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctataggtgtgtatgaatTaaggatctttatgatctgca	9	4	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:52487639T>C	uc010bff.2	-	40	5148	c.5011A>G	c.(5011-5013)AAT>GAT	p.N1671D	MYO5C_uc010uga.1_RNA|uc002abv.2_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	1671	Dilute.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		GTGTATGAATTAAGGATCTTT	0.353													C	52487639	T	C	52487639	3	2	98	1	0	0	0	0	1	0	0	0	10080	1754	61	3	225	3	MYO5C	15	52487639	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	3183653	52487639	50043753	1239	65569											
FAM63B	54629	broad.mit.edu	37	chr15	59144134	59144134	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaacaggaacaagcagcagcTgctgctgctgctgcttctac	11	12	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:59144134T>A	uc002afj.2	+	8	1909	c.1707T>A	c.(1705-1707)GCT>GCA	p.A569A	FAM63B_uc002afi.2_Silent_p.A569A|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	hypothetical protein LOC54629 isoform a	569	Gln-rich.									central_nervous_system(1)	1						AAGCAGCAGCTGCTGCTGCTG	0.383													A	59144134	T	A	59144134	2	1	98	1	0	0	0	0	0	0	0	1	5597	1567	55	5		5	FAM63B	15	59144134	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	6656495	59144134	43387258	1240	65570											
SLTM	79811	broad.mit.edu	37	chr15	59186117	59186117	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttctattttcttagtAtccttgctttcttttttttc	2	9	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:59186117A>G	uc002afp.2	-	12	1639	c.1551T>C	c.(1549-1551)GAT>GAC	p.D517D	SLTM_uc002afn.2_Silent_p.D86D|SLTM_uc002afo.2_Silent_p.D499D|SLTM_uc002afq.2_Silent_p.D86D|SLTM_uc010bgd.2_Silent_p.D86D	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	517					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						TTTTCTTAGTATCCTTGCTTT	0.358													G	59186117	A	G	59186117	2	3	98	1	0	0	0	0	0	0	0	1	14754	446	16	3		3	SLTM	15	59186117	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	41983	59186117	43345275	1241	65571											
NARG2	79664	broad.mit.edu	37	chr15	60745939	60745940	+	Frame_Shift_Ins	INS	-	-	G													ctcatagtcattttcttttgINSgggaagtggtgaattaatat							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:60745938_60745939T>TG	uc002agp.3	-	8	1223_1224	c.988_989A>CA	c.(988-990)caafs	p.Q330fs	NARG2_uc002ago.3_Frame_Shift_Ins_p.Q193fs|NARG2_uc002agq.4_5'UTR|NARG2_uc010bgk.3_Frame_Shift_Ins_p.Q330fs|NARG2_uc002agr.1_Frame_Shift_Ins_p.Q330fs	NM_024611	NP_001018099	Q659A1	NARG2_HUMAN	Homo sapiens NMDA receptor regulated 2 (NARG2), transcript variant 1, mRNA.	330						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CATTTTCTTTTGGGGAAGTGGT	0.297													G	60745940	-	G	60745939	7	5	98	1	0	1	1	0	0	0	0	0	10169	1357	47	0	1992	0	NARG2	15	60745939	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	1559822	60745939	41785453	1242	65572											
SNX1	6642	broad.mit.edu	37	chr15	64422122	64422122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtcttgtagctgccacGtgccgtgggtacccagacat	12	12	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:64422122G>A	uc002amv.2	+	9	851	c.815G>A	c.(814-816)CGT>CAT	p.R272H	SNX1_uc010bgv.2_Translation_Start_Site|SNX1_uc010uio.1_Missense_Mutation_p.R272H|SNX1_uc002amw.2_Missense_Mutation_p.R272H|SNX1_uc002amx.2_Missense_Mutation_p.R207H|SNX1_uc002amy.2_Missense_Mutation_p.R201H|SNX1_uc010bgw.2_Missense_Mutation_p.R174H	NM_003099	NP_003090	Q13596	SNX1_HUMAN	sorting nexin 1 isoform a	272	PX.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity				0						TAGCTGCCACGTGCCGTGGGT	0.473													A	64422122	G	A	64422122	3	1	98	1	0	0	0	0	1	0	0	0	14880	1145	40	1	849	1	SNX1	15	64422122	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3676183	64422122	38109270	1243	65573											
PLEKHO2	80301	broad.mit.edu	37	chr15	65157594	65157594	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actgaaagcctccatgggtgAgatgcaggcttctgggccac	13	11	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:65157594A>T	uc002anv.2	+	6	1114	c.980A>T	c.(979-981)GAG>GTG	p.E327V	PLEKHO2_uc010bgz.2_Missense_Mutation_p.E3V|PLEKHO2_uc002anw.2_Missense_Mutation_p.E277V	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O	327	Pro-rich.									ovary(1)|lung(1)	2						TCCATGGGTGAGATGCAGGCT	0.602													T	65157594	A	T	65157594	3	4	98	1	0	0	0	0	1	0	0	0	12085	304	11	5	1002	5	PLEKHO2	15	65157594	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	735472	65157594	37373798	1244	65574											
SPG21	51324	broad.mit.edu	37	chr15	65257735	65257735	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttttcagatgagctcttcGggcattaggatacagcttgt	11	7	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:65257735G>T	uc002aod.2	-	8	829	c.736C>A	c.(736-738)CGA>AGA	p.R246R	SPG21_uc002aoe.2_Silent_p.R246R|SPG21_uc010bhb.2_Silent_p.R219R|SPG21_uc010bhc.2_Silent_p.R92R	NM_001127889	NP_001121361	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 isoform a	246					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding				0						TGAGCTCTTCGGGCATTAGGA	0.433													T	65257735	G	T	65257735	2	4	98	1	0	0	0	0	0	0	0	1	15042	1124	39	5		5	SPG21	15	65257735	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	100141	65257735	37273657	1245	65575											
MEGF11	84465	broad.mit.edu	37	chr15	66191137	66191137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggagaccccatgtgcacaGgcgacttcatttctacatag	9	12	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:66191137G>A	uc002apm.2	-	22	3044	c.2903C>T	c.(2902-2904)CCT>CTT	p.P968L	MEGF11_uc002apl.2_Missense_Mutation_p.P893L|MEGF11_uc002apn.1_Missense_Mutation_p.P968L	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11 precursor	968						basolateral plasma membrane|integral to membrane				pancreas(1)	1						CATGTGCACAGGCGACTTCAT	0.433													A	66191137	G	A	66191137	3	1	98	1	0	0	0	0	1	0	0	0	9461	1000	35	4	239	4	MEGF11	15	66191137	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	933402	66191137	36340255	1246	65576											
ITGA11	22801	broad.mit.edu	37	chr15	68617582	68617582	+	Splice_Site	DEL	G	G	-													cacgtagtcagcagtgtcctGgggggtggagatgagggcag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:68617581_68617581TG>T	uc010bib.3	-	18	2299	c.2212_splice	c.e18-1	p.D738_splice	ITGA11_uc002ari.3_Splice_Site_p.D738_splice	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	738					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	AGCAGTGTCCTGGGGGGTGGA	0.582													-	68617582	G	-	68617582	8	5	98	1	0	1	0	1	0	0	1	0	7874	1363	47	0		0	ITGA11	15	68617582	Splice_Site	DEL	G	TCGA-BR-8591-01A-11D-2394-08	2426445	68617582	33913810	1247	65577											
TLE3	7090	broad.mit.edu	37	chr15	70348691	70348691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcctgtggcccgcatcGgggggtgagggtcaaaacca	18	10	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:70348691G>A	uc002asm.2	-	14	2402	c.1283C>T	c.(1282-1284)CCG>CTG	p.P428L	TLE3_uc002ask.2_Missense_Mutation_p.P355L|TLE3_uc002asl.2_Missense_Mutation_p.P428L|TLE3_uc010ukd.1_Missense_Mutation_p.P418L|TLE3_uc010bik.1_Missense_Mutation_p.P9L|TLE3_uc010bil.1_Missense_Mutation_p.P425L|TLE3_uc002asn.2_Missense_Mutation_p.P416L|TLE3_uc002asp.2_Missense_Mutation_p.P420L|TLE3_uc002aso.2_Missense_Mutation_p.P423L	NM_005078	NP_005069	Q04726	TLE3_HUMAN	transducin-like enhancer protein 3 isoform a	428	Pro/Ser-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding			lung(2)	2						GGCCCGCATCGGGGGGTGAGG	0.607													A	70348691	G	A	70348691	3	1	98	1	0	0	0	0	1	0	0	0	15937	1116	39	1	1063	1	TLE3	15	70348691	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1731109	70348691	32182701	1248	65578											
NPTN	27020	broad.mit.edu	37	chr15	73866028	73866028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcccgttctccttcttgCgccatatccagtctgggtgg	10	14	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:73866028C>T	uc002avs.2	-	5	1012	c.815G>A	c.(814-816)CGC>CAC	p.R272H	NPTN_uc010bjc.2_Missense_Mutation_p.R272H|NPTN_uc002avt.2_Missense_Mutation_p.R156H|NPTN_uc002avr.2_Missense_Mutation_p.R156H|NPTN_uc010ula.1_Missense_Mutation_p.R67H	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	neuroplastin isoform b precursor	272	Ig-like 3.|Extracellular (Potential).				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding				0						CTCCTTCTTGCGCCATATCCA	0.552													T	73866028	C	T	73866028	3	4	98	1	0	0	0	0	1	0	0	0	10601	768	27	1	397	1	NPTN	15	73866028	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3517337	73866028	28665364	1249	65579											
CD276	80381	broad.mit.edu	37	chr15	74000799	74000801	+	In_Frame_Del	DEL	GAG	GAG	-													gaaagatcaaacagagctgtGaggaggagaatgcaggtgag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:74000799_74000801delGAG	uc002avv.1	+	7	1723_1725	c.1489_1491delGAG	c.(1489-1491)GAGdel	p.E499del	CD276_uc010bjd.1_In_Frame_Del_p.E353del|CD276_uc002avu.1_In_Frame_Del_p.E499del|CD276_uc002avw.1_In_Frame_Del_p.E281del|CD276_uc010ulb.1_In_Frame_Del_p.E445del|CD276_uc002avx.2_RNA	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	CD276 antigen isoform a	499	Cytoplasmic (Potential).				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			skin(1)	1						ACAGAGCTGTGAGGAGGAGAATG	0.537													-	74000801	GAG	-	74000799	7	5	98	1	0	1	0	1	0	0	0	0	2992	1291	45	0	1511	0	CD276	15	74000799	In_Frame_Del	DEL	GAG	TCGA-BR-8591-01A-11D-2394-08	134771	74000799	28530593	1250	65580											
STRA6	64220	broad.mit.edu	37	chr15	74487706	74487706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggtgggcccaggacagCgtgctgccgagcaggtgtgc	17	12	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:74487706C>T	uc002axk.2	-	7	716	c.534G>A	c.(532-534)ACG>ACA	p.T178T	STRA6_uc002axi.2_Intron|STRA6_uc010ulh.1_Silent_p.T216T|STRA6_uc002axj.2_Silent_p.T217T|STRA6_uc010bji.2_Silent_p.T178T|STRA6_uc002axl.2_Silent_p.T110T|STRA6_uc002axm.2_Silent_p.T178T|STRA6_uc002axn.2_Silent_p.T169T|STRA6_uc010uli.1_Silent_p.T215T|STRA6_uc010bjj.1_RNA|STRA6_uc010bjk.2_3'UTR	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid gene 6 homolog	178	Extracellular (Potential).				adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			central_nervous_system(1)	1						CCCAGGACAGCGTGCTGCCGA	0.632													T	74487706	C	T	74487706	2	4	98	1	0	0	0	0	0	0	0	1	15321	755	27	1		1	STRA6	15	74487706	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	486907	74487706	28043686	1251	65581											
SEMA7A	8482	broad.mit.edu	37	chr15	74707019	74707019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgggctccaccctctgcGccacctctgggtgacggtca	11	17	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:74707019G>A	uc002axv.2	-	10	1203	c.1163C>T	c.(1162-1164)GCG>GTG	p.A388V	SEMA7A_uc010ulk.1_Missense_Mutation_p.A223V|SEMA7A_uc010ull.1_Missense_Mutation_p.A374V	NM_003612	NP_003603	O75326	SEM7A_HUMAN	semaphorin 7A isoform 1 preproprotein	388	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(1)|central_nervous_system(1)	2						CACCCTCTGCGCCACCTCTGG	0.632													A	74707019	G	A	74707019	3	1	98	1	0	0	0	0	1	0	0	0	14043	1087	38	1	857	1	SEMA7A	15	74707019	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	219313	74707019	27824373	1252	65582											
MAN2C1	4123	broad.mit.edu	37	chr15	75652923	75652923	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacctgggcatgggtggtgtAtgtgccattgtgcagctcca	15	9	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:75652923A>G	uc002baf.2	-	13	1584	c.1567T>C	c.(1567-1569)TAC>CAC	p.Y523H	MAN2C1_uc002bag.2_Missense_Mutation_p.Y523H|MAN2C1_uc002bah.2_Missense_Mutation_p.Y523H|MAN2C1_uc010bkk.2_Missense_Mutation_p.Y424H|MAN2C1_uc010umi.1_Missense_Mutation_p.Y305H	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	523					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						TGGGTGGTGTATGTGCCATTG	0.597													G	75652923	A	G	75652923	3	3	98	1	0	0	0	0	1	0	0	0	9218	449	16	3	1611	3	MAN2C1	15	75652923	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	945904	75652923	26878469	1253	65583											
SIN3A	25942	broad.mit.edu	37	chr15	75685046	75685046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtctgcctcttcacatgGtggataatcagagcagcagc	10	12	4	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:75685046G>A	uc002bai.2	-	15	2647	c.2388C>T	c.(2386-2388)CAC>CAT	p.H796H	SIN3A_uc002baj.2_Silent_p.H796H|SIN3A_uc010uml.1_Silent_p.H796H	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	796	Interactions with HDAC1 and ARID4B.|Interaction with NCOR1 (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						TCTTCACATGGTGGATAATCA	0.443													A	75685046	G	A	75685046	2	1	98	1	0	0	0	0	0	0	0	1	14325	1252	44	4		4	SIN3A	15	75685046	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	32123	75685046	26846346	1254	65584											
SGK269	79834	broad.mit.edu	37	chr15	77473379	77473379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctctgcagagacttgtttCgcagggggatggtattccat	12	8	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:77473379C>T	uc002bcm.2	-	3	1198	c.890G>A	c.(889-891)CGA>CAA	p.R297Q	SGK269_uc002bcn.2_Missense_Mutation_p.R297Q	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	297					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		AGACTTGTTTCGCAGGGGGAT	0.438													T	77473379	C	T	77473379	3	4	98	1	0	0	0	0	1	0	0	0	14211	884	31	1	4366	1	SGK269	15	77473379	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1788333	77473379	25058013	1255	65585											
LINGO1	84894	broad.mit.edu	37	chr15	77908005	77908005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggttgagcgttttgatgcGgttcttgcctaggtccagca	13	9	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:77908005G>A	uc002bct.1	-	2	296	c.244C>T	c.(244-246)CGC>TGC	p.R82C	LINGO1_uc002bcu.1_Missense_Mutation_p.R76C	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	82	Extracellular (Potential).|LRR 1.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2						GTTTTGATGCGGTTCTTGCCT	0.662													A	77908005	G	A	77908005	3	1	98	1	0	0	0	0	1	0	0	0	8814	1116	39	1	1622	1	LINGO1	15	77908005	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	434626	77908005	24623387	1256	65586											
ACSBG1	23205	broad.mit.edu	37	chr15	78526805	78526805	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcatgctggggtccccGtgtgggcagccgtatccagc	14	14	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:78526805G>A	uc002bdh.2	-	1	95	c.39C>T	c.(37-39)CAC>CAT	p.H13H	ACSBG1_uc010umw.1_Silent_p.H13H|ACSBG1_uc010umx.1_Translation_Start_Site|ACSBG1_uc010umy.1_Translation_Start_Site	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	lipidosin	13					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			ovary(1)	1						TGGGGTCCCCGTGTGGGCAGC	0.567													A	78526805	G	A	78526805	2	1	98	1	0	0	0	0	0	0	0	1	173	1136	40	1		1	ACSBG1	15	78526805	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	618800	78526805	24004587	1257	65587											
ADAMTS7	11173	broad.mit.edu	37	chr15	79092633	79092633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgtgggcccggatgtgCgcgcggcccaggccgccgcg	21	14	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:79092633C>T	uc002bej.3	-	2	568	c.357G>A	c.(355-357)GCG>GCA	p.A119A	ADAMTS7_uc010und.1_Silent_p.A119A|ADAMTS7_uc002bek.1_Silent_p.A119A	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	119					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						CCCGGATGTgcgcgcggccca	0.607													T	79092633	C	T	79092633	2	4	98	1	0	0	0	0	0	0	0	1	271	755	27	1		1	ADAMTS7	15	79092633	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	565828	79092633	23438759	1258	65588											
CTSH	1512	broad.mit.edu	37	chr15	79229754	79229754	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtactcctccgtactgtaGgtcttacggtgctaaaacaa	9	10	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:79229754G>T	uc002ben.2	-	4	196	c.99C>A	c.(97-99)ACC>ACA	p.T33T	CTSH_uc010unf.1_RNA|CTSH_uc010bll.1_Intron|CTSH_uc010ung.1_Silent_p.T45T	NM_148979	NP_683880	P09668	CATH_HUMAN	cathepsin H isoform b precursor	45					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(2)|large_intestine(1)	3						CCGTACTGTAGGTCTTACGGT	0.478													T	79229754	G	T	79229754	2	4	98	1	0	0	0	0	0	0	0	1	4036	987	35	5		5	CTSH	15	79229754	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	137121	79229754	23301638	1259	65589											
KIAA1024	23251	broad.mit.edu	37	chr15	79749636	79749636	+	Frame_Shift_Del	DEL	T	T	-													ttcctgactttgaacggtccTttttcaatagaaatccctcc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:79749635_79749635CT>C	uc002bew.1	+	1	1221	c.1146_1146CT>C	c.(1144-1146)tccfs	p.S382fs	KIAA1024_uc010unk.1_Frame_Shift_Del_p.S382fs	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	382						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TTGAACGGTCCTTTTTCAATA	0.527													-	79749636	T	-	79749636	7	5	98	1	0	1	0	1	0	0	0	0	8205	1609	56	0	1149	0	KIAA1024	15	79749636	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	519882	79749636	22781756	1260	65590											
ARNT2	9915	broad.mit.edu	37	chr15	80855535	80855535	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcacattccagaatccctAttctgatgagattgagtaca	6	10	2	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:80855535A>G	uc002bfr.2	+	12	1437	c.1271A>G	c.(1270-1272)TAT>TGT	p.Y424C	ARNT2_uc010unm.1_Missense_Mutation_p.Y413C|ARNT2_uc002bfs.2_Missense_Mutation_p.Y413C	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	424	PAC.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			CAGAATCCCTATTCTGATGAG	0.502													G	80855535	A	G	80855535	3	3	98	1	0	0	0	0	1	0	0	0	966	449	16	3	1317	3	ARNT2	15	80855535	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1105899	80855535	21675857	1261	65591											
HOMER2	9455	broad.mit.edu	37	chr15	83520895	83520895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggagcaccattactcactGtctccttttctcggagctct	7	14	4	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:83520895G>A	uc002bjg.2	-	7	980	c.794C>T	c.(793-795)ACA>ATA	p.T265I	HOMER2_uc002bjh.2_Missense_Mutation_p.T254I|HOMER2_uc002bjj.2_Missense_Mutation_p.T199I|HOMER2_uc002bji.2_Missense_Mutation_p.T210I	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	homer 2 isoform 2	265	Potential.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane					0						ATTACTCACTGTCTCCTTTTC	0.587													A	83520895	G	A	83520895	3	1	98	1	0	0	0	0	1	0	0	0	7279	1391	48	4	282	4	HOMER2	15	83520895	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2665360	83520895	19010497	1262	65592											
HOMER2	9455	broad.mit.edu	37	chr15	83523493	83523493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcagtgctgtggtcagcCgtgcattgctctcccgaagg	13	13	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:83523493C>T	uc002bjg.2	-	6	773	c.587G>A	c.(586-588)CGG>CAG	p.R196Q	HOMER2_uc002bjh.2_Missense_Mutation_p.R185Q|HOMER2_uc002bjj.2_Intron|HOMER2_uc002bji.2_Intron	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	homer 2 isoform 2	196	Potential.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane					0						TGTGGTCAGCCGTGCATTGCT	0.627													T	83523493	C	T	83523493	3	4	98	1	0	0	0	0	1	0	0	0	7279	652	23	1	493	1	HOMER2	15	83523493	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2598	83523493	19007899	1263	65593											
TM6SF1	53346	broad.mit.edu	37	chr15	83776454	83776454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtgcctctgcggccaccGgggtcttcgtgctgtccctc	13	15	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:83776454G>A	uc002bjp.2	+	1	131	c.22G>A	c.(22-24)GGG>AGG	p.G8R	TM6SF1_uc010bmq.2_Missense_Mutation_p.G8R|TM6SF1_uc002bjq.2_Missense_Mutation_p.G8R|TM6SF1_uc010bmr.2_RNA	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1 isoform 1	8	Helical; (Potential).					integral to membrane				ovary(1)	1						TGCGGCCACCGGGGTCTTCGT	0.647													A	83776454	G	A	83776454	3	1	98	1	0	0	0	0	1	0	0	0	15969	1116	39	1	24	1	TM6SF1	15	83776454	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	252961	83776454	18754938	1264	65594											
PDE8A	5151	broad.mit.edu	37	chr15	85669470	85669471	+	Frame_Shift_Del	DEL	TA	TA	-													aaccaggaagtgataaacacTatgcttaggactccagagaa							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:85669469_85669470CTA>C	uc002blh.3	+	19	2306_2307	c.2117_2118CTA>C	c.(2116-2118)actfs	p.T706fs	PDE8A_uc021stv.1_Frame_Shift_Del_p.T634fs|PDE8A_uc002bli.3_Frame_Shift_Del_p.T660fs|PDE8A_uc010bnc.3_Frame_Shift_Del_p.T459fs|PDE8A_uc010bnd.3_Frame_Shift_Del_p.T459fs|PDE8A_uc002blj.3_Frame_Shift_Del_p.T326fs|PDE8A_uc002blk.3_Frame_Shift_Del_p.T326fs|PDE8A_uc002bll.3_Frame_Shift_Del_p.T58fs	NM_002605	NP_001230066	O60658	PDE8A_HUMAN	Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA.	706	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.T706N(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			GTGATAAACACTATGCTTAGGA	0.455													-	85669471	TA	-	85669470	7	5	98	1	0	1	0	1	0	0	0	0	11653	1509	53	0	2196	0	PDE8A	15	85669470	Frame_Shift_Del	DEL	TA	TCGA-BR-8591-01A-11D-2394-08	1893016	85669470	16861922	1265	65595											
DET1	55070	broad.mit.edu	37	chr15	89074194	89074194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcacatcaatgaaagtgCcttcaggagtcacctggaag	10	11	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:89074194C>T	uc002bmr.2	-	2	895	c.743G>A	c.(742-744)GGC>GAC	p.G248D	DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Missense_Mutation_p.G259D	NM_001144074	NP_001137546	Q7L5Y6	DET1_HUMAN	de-etiolated 1 isoform 2	248						nucleus				lung(1)|pancreas(1)	2	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AATGAAAGTGCCTTCAGGAGT	0.502													T	89074194	C	T	89074194	3	4	98	1	0	0	0	0	1	0	0	0	4450	739	26	2	925	2	DET1	15	89074194	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3404724	89074194	13457198	1266	65596											
ACAN	176	broad.mit.edu	37	chr15	89401038	89401038	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcagtggacagccatcagGgtttcctgacactagtgggg	14	9	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:89401038G>T	uc010upo.1	+	12	5596	c.5222G>T	c.(5221-5223)GGG>GTG	p.G1741V	ACAN_uc010upp.1_Missense_Mutation_p.G1741V|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	1741					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGCCATCAGGGTTTCCTGAC	0.517													T	89401038	G	T	89401038	3	4	98	1	0	0	0	0	1	0	0	0	117	1232	43	5	5264	5	ACAN	15	89401038	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	326844	89401038	13130354	1267	65597											
POLG	5428	broad.mit.edu	37	chr15	89876827	89876828	+	Missense_Mutation	DNP	TT	TT	AG													tgcggctgctgaggctgctgTtgctgctgctgctgctgctg					rs41550117		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:89876827_89876828TT>AG	uc002bns.3	-	2	440_441	c.158_159AA>CT	c.(157-159)CAA>CCT	p.Q53P	POLG_uc002bnr.3_Missense_Mutation_p.Q53P	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	53	Poly-Gln.				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			gaggctgctgttgctgctgctg	0.46								DNA_polymerases_(catalytic_subunits)					AG	89876828	TT	AG	89876827	3	1	98	1	0	0	0	0	1	0	0	0	12200	1722	60	5	3648	5	POLG	15	89876827	Missense_Mutation	DNP	TT	TCGA-BR-8591-01A-11D-2394-08	475789	89876827	12654565	1268	65598	308	2									
POLG	5428	broad.mit.edu	37	chr15	89876836	89876836	+	Silent	SNP	C	C	T													tgaggctgctgttgctgctgCtgctgctgctgctgctgctg					rs71879812		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:89876836C>T	uc002bns.3	-	2	432	c.150G>A	c.(148-150)CAG>CAA	p.Q50Q	POLG_uc002bnr.3_Silent_p.Q50Q	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	50	Poly-Gln.				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			gttgctgctgctgctgctgct	0.473								DNA_polymerases_(catalytic_subunits)					T	89876836	C	T	89876836	2	4	98	1	0	0	0	0	0	0	0	1	12200	796	28	2		2	POLG	15	89876836	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	9	89876836	12654556	1269	65599	308	2									
IQGAP1	8826	broad.mit.edu	37	chr15	91017330	91017330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaatccaggcttttattcGggcaaacaaagctcgggatg	10	9	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:91017330G>A	uc002bpl.1	+	22	2641	c.2540G>A	c.(2539-2541)CGG>CAG	p.R847Q		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	847	IQ 4.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCTTTTATTCGGGCAAACAAA	0.428													A	91017330	G	A	91017330	3	1	98	1	0	0	0	0	1	0	0	0	7814	1116	39	1	2626	1	IQGAP1	15	91017330	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1140494	91017330	11514062	1270	65600											
FES	2242	broad.mit.edu	37	chr15	91430551	91430551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaccagctcctgctgcccGgcctgctgcggtcactgcag	11	18	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:91430551G>A	uc002bpv.2	+	5	715	c.619G>A	c.(619-621)GGC>AGC	p.G207S	FES_uc010uqj.1_Missense_Mutation_p.G149S|FES_uc010uqk.1_Missense_Mutation_p.G189S|FES_uc002bpw.2_RNA|FES_uc010bny.2_Missense_Mutation_p.G149S|FES_uc002bpx.2_Missense_Mutation_p.G207S|FES_uc002bpy.2_Missense_Mutation_p.G149S	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	207	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCTGCTGCCCGGCCTGCTGCG	0.672													A	91430551	G	A	91430551	3	1	98	1	0	0	0	0	1	0	0	0	5820	1116	39	1	633	1	FES	15	91430551	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	413221	91430551	11100841	1271	65601											
ST8SIA2	8128	broad.mit.edu	37	chr15	93007591	93007591	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggctttgaaactgactgtCggccagtgcgatggggccac	16	10	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:93007591C>T	uc002bra.2	+	6	1259	c.1104C>T	c.(1102-1104)GTC>GTT	p.V368V	ST8SIA2_uc002brb.2_Silent_p.V347V	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide	368	Lumenal (Potential).				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity				0	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			AACTGACTGTCGGCCAGTGCG	0.602													T	93007591	C	T	93007591	2	4	98	1	0	0	0	0	0	0	0	1	15231	871	31	1		1	ST8SIA2	15	93007591	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1577040	93007591	9523801	1272	65602											
SYNM	23336	broad.mit.edu	37	chr15	99673231	99673233	+	In_Frame_Del	DEL	GAG	GAG	-													ccctcctctatctagacaatGaggaggaggagaatgatggg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:99673230_99673232TGAG>T	uc002bup.3	+	4	4782_4784	c.4662_4664TGAG>T	c.(4660-4665)aatgag>aaTg	p.E1558del	SYNM_uc002buo.3_In_Frame_Del_p.E1246del|SYNM_uc002buq.3_Non-coding_Transcript	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	1559	Interaction with DMD and UTRN.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	p.N1554N(1)|p.N1242N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						ATCTAGACAATGAGGAGGAGGAG	0.438													-	99673233	GAG	-	99673231	7	5	98	1	0	1	0	1	0	0	0	0	15452	1291	45	0	4679	0	SYNM	15	99673231	In_Frame_Del	DEL	GAG	TCGA-BR-8591-01A-11D-2394-08	6665640	99673231	2858161	1273	65603											
ASB7	140460	broad.mit.edu	37	chr15	101152540	101152540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctagaacaaggctattcccCgaatggccgagatgcgaatg	12	10	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:101152540C>T	uc002bwk.2	+	4	888	c.119C>T	c.(118-120)CCG>CTG	p.P40L	ASB7_uc002bwj.2_Missense_Mutation_p.P40L	NM_198243	NP_937886	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box-containing protein 7	40	ANK 1.				intracellular signal transduction					skin(1)	1	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			GGCTATTCCCCGAATGGCCGA	0.527													T	101152540	C	T	101152540	3	4	98	1	0	0	0	0	1	0	0	0	1028	652	23	1	121	1	ASB7	15	101152540	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1479309	101152540	1378852	1274	65604											
RHBDF1	64285	broad.mit.edu	37	chr16	111619	111619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcgagaagcccacgggCgcgatgccatagatgcacac	13	13	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:111619C>T	uc002cfl.3	-	12	1432	c.1284G>A	c.(1282-1284)GCG>GCA	p.A428A	RHBDF1_uc010uty.1_Silent_p.A451A|RHBDF1_uc010utz.1_Silent_p.A428A|RHBDF1_uc010bqo.1_RNA	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	428	Helical; (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGCCCACGGGCGCGATGCCAT	0.667													T	111619	C	T	111619	2	4	98	1	0	0	0	0	0	0	0	1	13319	755	27	1		1	RHBDF1	16	111619	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08		111619	90243134	1275	65605											
RHBDF1	64285	broad.mit.edu	37	chr16	113084	113084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaaggagcagagggaggCagcacccggcgtgacgggag	21	8	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:113084C>T	uc002cfl.3	-	8	707	c.559G>A	c.(559-561)GCC>ACC	p.A187T	RHBDF1_uc010uty.1_Missense_Mutation_p.A210T|RHBDF1_uc010utz.1_Missense_Mutation_p.A187T|RHBDF1_uc010bqo.1_RNA	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	187	Cytoplasmic (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CAGAGGGAGGCAGCACCCGGC	0.692													T	113084	C	T	113084	3	4	98	1	0	0	0	0	1	0	0	0	13319	710	25	2	2064	2	RHBDF1	16	113084	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1465	113084	90241669	1276	65606											
NPRL3	8131	broad.mit.edu	37	chr16	167353	167353	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtaggtgcttccctcttcgGggaaggatctgttttggaga	14	7	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:167353G>T	uc002cfr.2	-	5	439	c.340C>A	c.(340-342)CCG>ACG	p.P114T	NPRL3_uc010uua.1_Intron|NPRL3_uc002cfp.1_RNA|NPRL3_uc002cfq.2_Intron|NPRL3_uc010uub.1_Intron|NPRL3_uc010uuc.1_Missense_Mutation_p.P36T|NPRL3_uc002cfs.1_Intron	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	conserved gene telomeric to alpha globin cluster	114							protein binding			ovary(1)	1						TCCCTCTTCGGGGAAGGATCT	0.403													T	167353	G	T	167353	3	4	98	1	0	0	0	0	1	0	0	0	10598	1232	43	5	1408	5	NPRL3	16	167353	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	54269	167353	90187400	1277	65607											
DECR2	26063	broad.mit.edu	37	chr16	457533	457533	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaccaggctctgaaggagTttggcagaatcgacattctc	12	9	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:457533T>C	uc002chb.2	+	4	416	c.310T>C	c.(310-312)TTT>CTT	p.F104L	DECR2_uc002chc.2_Missense_Mutation_p.F20L|DECR2_uc010bqv.2_Missense_Mutation_p.F20L|DECR2_uc002chd.2_Missense_Mutation_p.F20L|DECR2_uc002che.1_RNA	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2	104						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding				0		Hepatocellular(16;0.00015)				TCTGAAGGAGTTTGGCAGAAT	0.607													C	457533	T	C	457533	3	2	98	1	0	0	0	0	1	0	0	0	4383	1725	60	3	324	3	DECR2	16	457533	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	290180	457533	89897220	1278	65608											
STUB1	10273	broad.mit.edu	37	chr16	731318	731318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccagctggagatggagaGctatgatgaggccatcgcca	15	9	0	4	rs148553428	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:731318G>A	uc002cit.2	+	2	737	c.326G>A	c.(325-327)AGC>AAC	p.S109N	STUB1_uc002ciu.2_Missense_Mutation_p.S37N|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1	109	TPR 3.				cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity				0		Hepatocellular(780;0.00335)				GAGATGGAGAGCTATGATGAG	0.672													A	731318	G	A	731318	3	1	98	1	0	0	0	0	1	0	0	0	15334	971	34	2	332	2	STUB1	16	731318	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	273785	731318	89623435	1279	65609											
WDR24	84219	broad.mit.edu	37	chr16	739373	739373	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggtggctgctgtggccaGcaggttctcatccatctggt	13	10	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:739373G>A	uc002ciz.1	-	1	1028	c.268C>T	c.(268-270)CTG>TTG	p.L90L		NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	152	WD 1.									ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)				GCTGTGGCCAGCAGGTTCTCA	0.602													A	739373	G	A	739373	2	1	98	1	0	0	0	0	0	0	0	1	17278	962	34	2		2	WDR24	16	739373	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	8055	739373	89615380	1280	65610											
CHTF18	63922	broad.mit.edu	37	chr16	847077	847077	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcacatcatgaggcgagcGgcccgggaggaacaggtgtg	18	9	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:847077G>A	uc002cke.3	+	20	2781	c.2718G>A	c.(2716-2718)GCG>GCA	p.A906A	CHTF18_uc002ckf.3_Silent_p.A934A|CHTF18_uc010brf.2_Silent_p.A488A|CHTF18_uc002ckg.3_Silent_p.A424A	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	906					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)				TGAGGCGAGCGGCCCGGGAGG	0.667													A	847077	G	A	847077	2	1	98	1	0	0	0	0	0	0	0	1	3414	1103	39	1		1	CHTF18	16	847077	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	107704	847077	89507676	1281	65611											
SSTR5	6755	broad.mit.edu	37	chr16	1129911	1129911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcagcaggaggccacgcCacccgcgcaccgcgccgcag	14	19	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:1129911C>T	uc002ckq.2	+	1	1131	c.1043C>T	c.(1042-1044)CCA>CTA	p.P348L	LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	NM_001053	NP_001044	P35346	SSR5_HUMAN	somatostatin receptor 5	348	Cytoplasmic (Potential).			PPAHR -> RPRT (in Ref. 1; AAA20828).	negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			lung(1)	1		Hepatocellular(780;0.00369)			Octreotide(DB00104)	GAGGCCACGCCACCCGCGCAC	0.701													T	1129911	C	T	1129911	3	4	98	1	0	0	0	0	1	0	0	0	15200	594	21	4	1045	4	SSTR5	16	1129911	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	282834	1129911	89224842	1282	65612											
PTX4	390667	broad.mit.edu	37	chr16	1536186	1536187	+	Frame_Shift_Ins	INS	-	-	G													ccagcacgagggaccctccgINSggggggatctcatagccctc					rs148668779		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:1536185_1536186C>CG	uc010uvf.2	-	2	1176_1177	c.1176_1177G>CG	c.(1174-1179)cccggafs	p.P392fs		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	397	Pentaxin.					extracellular region	metal ion binding	p.G393fs*57(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						AGGGACCCTCCGGGGGGGATCT	0.663													G	1536187	-	G	1536186	7	5	98	1	0	1	1	0	0	0	0	0	12823	1103	39	0	248	0	PTX4	16	1536186	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	406275	1536186	88818567	1283	65613											
HAGH	3029	broad.mit.edu	37	chr16	1866933	1866933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggatggcggcattgccGggctccacgtggcgtgcaaa	15	13	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:1866933G>A	uc002cna.2	-	7	1115	c.708C>T	c.(706-708)CCC>CCT	p.P236P	HAGH_uc002cmz.2_Silent_p.P188P|HAGH_uc010uvp.1_Missense_Mutation_p.P200L|HAGH_uc002cnb.1_Silent_p.P188P	NM_005326	NP_005317	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase isoform 1	236					glutathione biosynthetic process	cytoplasm|mitochondrial matrix|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			ovary(1)	1		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CGGCATTGCCGGGCTCCACGT	0.627													A	1866933	G	A	1866933	2	1	98	1	0	0	0	0	0	0	0	1	6945	1103	39	1		1	HAGH	16	1866933	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	330747	1866933	88487820	1284	65614											
TBL3	10607	broad.mit.edu	37	chr16	2024963	2024963	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccggaccctacacgcctgCtgctcttctcctcggccacg	8	20	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:2024963C>T	uc002cnu.1	+	7	601	c.499C>T	c.(499-501)CTG>TTG	p.L167L	TBL3_uc002cnv.1_Silent_p.L53L|TBL3_uc010bsb.1_5'UTR|TBL3_uc010bsc.1_Silent_p.L53L|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	167	WD 3.				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						TACACGCCTGCTGCTCTTCTC	0.682													T	2024963	C	T	2024963	2	4	98	1	0	0	0	0	0	0	0	1	15640	796	28	2		2	TBL3	16	2024963	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	158030	2024963	88329790	1285	65615											
ZSCAN10	84891	broad.mit.edu	37	chr16	3139545	3139545	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcggcagggcttctcGcccgtgtggctgcgctggtg	17	13	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:3139545G>A	uc002ctv.1	-	5	1813	c.1725C>T	c.(1723-1725)GGC>GGT	p.G575G	ZSCAN10_uc002cty.1_Silent_p.G236G|ZSCAN10_uc002ctw.1_Silent_p.G493G|ZSCAN10_uc002ctx.1_Silent_p.G503G	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	575					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						AGGGCTTCTCGCCCGTGTGGC	0.711													A	3139545	G	A	3139545	2	1	98	1	0	0	0	0	0	0	0	1	18224	1074	38	1		1	ZSCAN10	16	3139545	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1114582	3139545	87215208	1286	65616											
OR1F1	4992	broad.mit.edu	37	chr16	3254621	3254621	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctatgaccactttgtcgcCgtgtgccaccccttacatta	7	15	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:3254621C>T	uc010uwu.1	+	1	375	c.375C>T	c.(373-375)GCC>GCT	p.A125A		NM_012360	NP_036492	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F,	125	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ACTTTGTCGCCGTGTGCCACC	0.502													T	3254621	C	T	3254621	2	4	98	1	0	0	0	0	0	0	0	1	10956	639	23	1		1	OR1F1	16	3254621	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	115076	3254621	87100132	1287	65617											
VASN	114990	broad.mit.edu	37	chr16	4431967	4431967	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtgcccaccacgaggccCgtggtgcgggagcccacagc	14	16	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:4431967C>T	uc002cwj.1	+	2	1244	c.1089C>T	c.(1087-1089)CCC>CCT	p.P363P	CORO7_uc002cwe.2_Intron|CORO7_uc002cwf.2_Intron|CORO7_uc002cwg.3_Intron|CORO7_uc002cwh.3_Intron|CORO7_uc010uxh.1_Intron|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_Intron|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_Intron	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN	slit-like 2 precursor	363	Extracellular (Potential).					extracellular region|integral to membrane					0						CCACGAGGCCCGTGGTGCGGG	0.687													T	4431967	C	T	4431967	2	4	98	1	0	0	0	0	0	0	0	1	17124	639	23	1		1	VASN	16	4431967	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1177346	4431967	85922786	1288	65618											
C16orf71	146562	broad.mit.edu	37	chr16	4790616	4790616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctcccagatccaaaatgCccctcgtggagcctccggag	10	16	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:4790616C>T	uc002cxn.2	+	4	1201	c.739C>T	c.(739-741)CCC>TCC	p.P247S		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	hypothetical protein LOC146562	247										central_nervous_system(1)	1						ATCCAAAATGCCCCTCGTGGA	0.657													T	4790616	C	T	4790616	3	4	98	1	0	0	0	0	1	0	0	0	1830	739	26	2	749	2	C16orf71	16	4790616	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	358649	4790616	85564137	1289	65619											
GLYR1	84656	broad.mit.edu	37	chr16	4864621	4864621	+	Frame_Shift_Del	DEL	G	G	-													agcgggggttcttcccagacGggccccctcctggatgaaca							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:4864620_4864620CG>C	uc002cxx.4	-	10	972	c.935_935CG>G	c.(934-936)cgtfs	p.R312fs	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Frame_Shift_Del_p.R226fs|GLYR1_uc002cya.2_Frame_Shift_Del_p.R306fs|GLYR1_uc010uxv.1_Frame_Shift_Del_p.R231fs	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	312					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCTTCCCAGACGGGCCCCCTC	0.577													-	4864621	G	-	4864621	7	5	98	1	0	1	0	1	0	0	0	0	6483	1116	39	0	751	0	GLYR1	16	4864621	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	74005	4864621	85490132	1290	65620											
PPL	5493	broad.mit.edu	37	chr16	4944524	4944524	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatcacaaaacacacggcCggagcaatcagcttgttccc	10	13	2	0	rs141007351		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:4944524C>T	uc002cyd.1	-	12	1428	c.1338G>A	c.(1336-1338)CCG>CCA	p.P446P		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	446	Spectrin 2.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						AACACACGGCCGGAGCAATCA	0.632													T	4944524	C	T	4944524	2	4	98	1	0	0	0	0	0	0	0	1	12334	639	23	1		1	PPL	16	4944524	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	79903	4944524	85410229	1291	65621											
CIITA	4261	broad.mit.edu	37	chr16	11000684	11000684	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggccggcttccccagtaCgactttgtcttctctgtccc	9	15	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:11000684C>T	uc002dai.3	+	11	1468	c.1335C>T	c.(1333-1335)TAC>TAT	p.Y445Y	CIITA_uc002daj.3_Silent_p.Y446Y|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Silent_p.Y445Y|CIITA_uc002dah.2_Silent_p.Y397Y|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	445	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						TTCCCCAGTACGACTTTGTCT	0.622			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								T	11000684	C	T	11000684	2	4	98	1	0	0	0	0	0	0	0	1	3428	547	19	1		1	CIITA	16	11000684	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	6056160	11000684	79354069	1292	65622											
TXNDC11	51061	broad.mit.edu	37	chr16	11785753	11785753	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctggagaaggagtgccaCtggggcagcaccacagtgtt	15	10	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:11785753C>T	uc010buu.1	-	9	1436	c.1374G>A	c.(1372-1374)CAG>CAA	p.Q458Q	TXNDC11_uc002dbg.1_Silent_p.Q431Q	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	458					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						AGGAGTGCCACTGGGGCAGCA	0.642													T	11785753	C	T	11785753	2	4	98	1	0	0	0	0	0	0	0	1	16789	564	20	4		4	TXNDC11	16	11785753	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	785069	11785753	78569000	1293	65623											
RUNDC2A	84127	broad.mit.edu	37	chr16	12136881	12136881	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgctgtgccctcaacgaAcactccctggagcgctacct	9	17	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:12136881A>T	uc002dbw.1	+	5	437	c.375A>T	c.(373-375)GAA>GAT	p.E125D		NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN	RUN domain containing 2A	125	RUN.									ovary(1)	1						CCCTCAACGAACACTCCCTGG	0.622			T	CIITA	PMBL|Hodgkin Lymphona|								T	12136881	A	T	12136881	3	4	98	1	0	0	0	0	1	0	0	0	13743	40	2	5	393	5	RUNDC2A	16	12136881	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	351128	12136881	78217872	1294	65624											
SNX29	92017	broad.mit.edu	37	chr16	12223537	12223537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcactcagccgcgctccGgcaagaggtggacaccttga	14	13	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:12223537G>A	uc002dby.3	+	6	418	c.362G>A	c.(361-363)CGG>CAG	p.R121Q	SNX29_uc010uyx.1_Missense_Mutation_p.R148Q	NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	121	Potential.				cell communication		phosphatidylinositol binding			ovary(1)	1						GCCGCGCTCCGGCAAGAGGTG	0.607													A	12223537	G	A	12223537	3	1	98	1	0	0	0	0	1	0	0	0	14898	1116	39	1	380	1	SNX29	16	12223537	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	86656	12223537	78131216	1295	65625											
SNX29	92017	broad.mit.edu	37	chr16	12492337	12492338	+	Frame_Shift_Del	DEL	AG	AG	-													gagtcaaacgtccgaagaccAgagtttgtcggattttgaaa							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:12492336_12492337CAG>C	uc002dby.4	+	16	1995_1996	c.778_779CAG>C	c.(778-780)cagfs	p.Q260fs		NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.	260					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GTCCGAAGACCAGAGTTTGTCG	0.475													-	12492338	AG	-	12492337	7	5	98	1	0	1	0	1	0	0	0	0	14898	188	7	0	813	0	SNX29	16	12492337	Frame_Shift_Del	DEL	AG	TCGA-BR-8591-01A-11D-2394-08	268800	12492337	77862416	1296	65626											
MYH11	4629	broad.mit.edu	37	chr16	15818575	15818575	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcgtccagctggtcttGcaggctgttccgctcctcct	9	17	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:15818575G>A	uc002ddy.2	-	30	4152	c.4045C>T	c.(4045-4047)CAA>TAA	p.Q1349*	MYH11_uc002ddv.2_Nonsense_Mutation_p.Q1356*|MYH11_uc002ddw.2_Nonsense_Mutation_p.Q1349*|MYH11_uc002ddx.2_Nonsense_Mutation_p.Q1356*|MYH11_uc010bvg.2_Nonsense_Mutation_p.Q1181*|NDE1_uc010uzy.1_3'UTR|NDE1_uc002dds.2_3'UTR|MYH11_uc010bvh.2_Nonsense_Mutation_p.Q55*|NDE1_uc002ddz.1_RNA	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1349	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						AGCTGGTCTTGCAGGCTGTTC	0.582			T	CBFB	AML								A	15818575	G	A	15818575	4	1	98	1	0	0	0	0	0	1	0	0	10031	1328	46	2	1956	2	MYH11	16	15818575	Nonsense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3326238	15818575	74536178	1297	65627											
ABCC6	368	broad.mit.edu	37	chr16	16259624	16259624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggaatgtccacgtcaacCgtgtctgtctccttggagaa	10	11	4	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:16259624C>T	uc002den.3	-	23	3199	c.3162G>A	c.(3160-3162)ACG>ACA	p.T1054T	ABCC6_uc010bvo.2_RNA	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	1054	Cytoplasmic (By similarity).|ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CCACGTCAACCGTGTCTGTCT	0.582													T	16259624	C	T	16259624	2	4	98	1	0	0	0	0	0	0	0	1	57	639	23	1		1	ABCC6	16	16259624	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	441049	16259624	74095129	1298	65628											
SMG1	23049	broad.mit.edu	37	chr16	18937330	18937330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgccgccgccgccgcTgctcagccgagaccccgggg	15	21	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:18937330T>C	uc002dfm.2	-	1	397	c.34A>G	c.(34-36)AGC>GGC	p.S12G		NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	12	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						ccgccgccgctgcTCAGCCGA	0.627													C	18937330	T	C	18937330	3	2	98	1	0	0	0	0	1	0	0	0	14795	1580	55	3	11203	3	SMG1	16	18937330	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	2677706	18937330	71417423	1299	65629											
GP2	2813	broad.mit.edu	37	chr16	20335392	20335392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccttcccctacaaagCggtaccagccgctcatgttt	6	17	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:20335392C>T	uc002dgv.2	-	3	364	c.281G>A	c.(280-282)CGC>CAC	p.R94H	GP2_uc002dgw.2_Missense_Mutation_p.R94H|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	94						anchored to membrane|extracellular region|plasma membrane		p.R94S(1)		ovary(3)|skin(1)	4						CCCTACAAAGCGGTACCAGCC	0.582													T	20335392	C	T	20335392	3	4	98	1	0	0	0	0	1	0	0	0	6582	768	27	1	1372	1	GP2	16	20335392	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1398062	20335392	70019361	1300	65630											
ACSM2A	123876	broad.mit.edu	37	chr16	20481029	20481029	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgggtggctgaacttcaAgaaactactaaagtgagtat	11	5	1	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:20481029A>C	uc010bwe.2	+	5	823	c.584A>C	c.(583-585)AAG>ACG	p.K195T	ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.K116T|ACSM2A_uc002dhf.3_Missense_Mutation_p.K195T|ACSM2A_uc002dhg.3_Missense_Mutation_p.K195T|ACSM2A_uc010vay.1_Missense_Mutation_p.K116T	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	195					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						CTGAACTTCAAGAAACTACTA	0.269													C	20481029	A	C	20481029	3	2	98	1	0	0	0	0	1	0	0	0	183	72	3	5	594	5	ACSM2A	16	20481029	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	145637	20481029	69873724	1301	65631											
USP31	57478	broad.mit.edu	37	chr16	23091266	23091266	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcctctcacactgcagaCctgtgtagtgccccccttgc	9	17	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:23091266C>T	uc002dll.2	-	13	2176	c.2176_splice	c.e13+1	p.A726_splice	USP31_uc010bxm.2_Intron	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		ACACTGCAGACCTGTGTAGTG	0.572													T	23091266	C	T	23091266	5	4	98	1	0	0	0	0	0	0	1	0	17059	521	18	4	1897	4	USP31	16	23091266	Splice_Site	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2610237	23091266	67263487	1302	65632											
PALB2	79728	broad.mit.edu	37	chr16	23632770	23632770	+	Frame_Shift_Del	DEL	G	G	-													aagttagtatagtctcctcaGggggcatcaaaaattggttt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:23632769_23632769AG>A	uc002dlx.1	-	9	3227	c.3027_3027CT>T	c.(3025-3027)cctfs	p.P1009fs		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	1009	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.P1008L(1)|p.E1010fs*1(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TAGTCTCCTCAGGGGGCATCA	0.408			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					-	23632770	G	-	23632770	7	5	98	1	0	1	0	1	0	0	0	0	11406	1000	35	0	550	0	PALB2	16	23632770	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	541504	23632770	66721983	1303	65633											
ERN2	10595	broad.mit.edu	37	chr16	23718096	23718097	+	Frame_Shift_Ins	INS	-	-	G													gttcggccaatgtagaggcgINSgggggtggagggaccctctg					rs143761786		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:23718095_23718096C>CG	uc002dma.4	-	5	779_780	c.610_611G>CG	c.(610-612)cgcfs	p.R204fs	ERN2_uc010bxp.3_Frame_Shift_Ins_p.R204fs|ERN2_uc010bxq.1_Frame_Shift_Ins_p.R12fs	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	156					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AATGTAGAGGCGGGGGGTGGAG	0.604													G	23718097	-	G	23718096	7	5	98	1	0	1	1	0	0	0	0	0	5238	1116	39	0	2382	0	ERN2	16	23718096	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	85326	23718096	66636657	1304	65634											
TNRC6A	27327	broad.mit.edu	37	chr16	24828182	24828182	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggttatccaaacattgaccCtgaaactgacccttacgtca	6	12	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:24828182C>A	uc002dmm.2	+	20	4991	c.4877C>A	c.(4876-4878)CCT>CAT	p.P1626H	TNRC6A_uc010bxs.2_Missense_Mutation_p.P1373H|TNRC6A_uc002dmn.2_Missense_Mutation_p.P1324H|TNRC6A_uc002dmo.2_Missense_Mutation_p.P1265H	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1626					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		AACATTGACCCTGAAACTGAC	0.408													A	24828182	C	A	24828182	3	1	98	1	0	0	0	0	1	0	0	0	16337	681	24	5	4955	5	TNRC6A	16	24828182	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1110086	24828182	65526571	1305	65635											
ARHGAP17	55114	broad.mit.edu	37	chr16	24942149	24942149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgtgttggtgaggctgCtgtccccagctgagtggaca	16	9	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:24942149C>T	uc002dnb.2	-	19	2564	c.2471G>A	c.(2470-2472)AGC>AAC	p.S824N	ARHGAP17_uc002dmx.2_Missense_Mutation_p.S86N|ARHGAP17_uc002dmw.2_Missense_Mutation_p.S86N|ARHGAP17_uc002dmy.2_Missense_Mutation_p.S269N|ARHGAP17_uc002dmz.2_Missense_Mutation_p.S348N|ARHGAP17_uc002dna.2_Missense_Mutation_p.S551N|ARHGAP17_uc002dnc.2_Missense_Mutation_p.S746N|ARHGAP17_uc010vcf.1_Missense_Mutation_p.S567N|ARHGAP17_uc002dne.1_Missense_Mutation_p.S86N	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	824					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		GGTGAGGCTGCTGTCCCCAGC	0.557													T	24942149	C	T	24942149	3	4	98	1	0	0	0	0	1	0	0	0	867	797	28	2	182	2	ARHGAP17	16	24942149	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	113967	24942149	65412604	1306	65636											
GTF3C1	2975	broad.mit.edu	37	chr16	27509009	27509009	+	Frame_Shift_Del	DEL	T	T	-													tatgcccattttattatcacTttttttcatccgtccacttt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:27509008_27509008CT>C	uc002dov.2	-	13	2340	c.2300_2300AG>G	c.(2299-2301)agtfs	p.S767fs	GTF3C1_uc002dou.3_Frame_Shift_Del_p.S767fs	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	767						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTTATTATCACTTTTTTTCAT	0.433													-	27509009	T	-	27509009	7	5	98	1	0	1	0	1	0	0	0	0	6872	1609	56	0	4126	0	GTF3C1	16	27509009	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	2566860	27509009	62845744	1307	65637											
KIAA0556	23247	broad.mit.edu	37	chr16	27710866	27710866	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttccaggatgcagaaggAccaccagcaaaaccatggac	9	13	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:27710866A>G	uc002dow.2	+	10	1149	c.1125A>G	c.(1123-1125)GGA>GGG	p.G375G	KIAA0556_uc002dox.1_Silent_p.G283G	NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	375										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						ATGCAGAAGGACCACCAGCAA	0.507													G	27710866	A	G	27710866	2	3	98	1	0	0	0	0	0	0	0	1	8183	262	10	3		3	KIAA0556	16	27710866	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	201857	27710866	62643887	1308	65638											
KIAA0556	23247	broad.mit.edu	37	chr16	27777751	27777751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaaagcatcgcaggcctgCgcttctggaactacaataaa	9	12	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:27777751C>T	uc002dow.2	+	20	3955	c.3931C>T	c.(3931-3933)CGC>TGC	p.R1311C		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	1311										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						CGCAGGCCTGCGCTTCTGGAA	0.602													T	27777751	C	T	27777751	3	4	98	1	0	0	0	0	1	0	0	0	8183	768	27	1	4009	1	KIAA0556	16	27777751	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	66885	27777751	62577002	1309	65639											
ATP2A1	487	broad.mit.edu	37	chr16	28898955	28898955	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaacattggccacttcaaCgaccccgtccatgggggctc	9	15	2	0	rs145160426		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:28898955C>T	uc002dro.1	+	8	1024	c.840C>T	c.(838-840)AAC>AAT	p.N280N	uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.N280N|ATP2A1_uc002drp.1_Silent_p.N155N|ATP2A1_uc010bym.1_5'Flank	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	280	Lumenal (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCCACTTCAACGACCCCGTCC	0.577													T	28898955	C	T	28898955	2	4	98	1	0	0	0	0	0	0	0	1	1136	535	19	1		1	ATP2A1	16	28898955	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1121204	28898955	61455798	1310	65640											
LAT	27040	broad.mit.edu	37	chr16	28996808	28996808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcctggccatgttgatgGcactgtgtgtgcactgccac	11	13	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:28996808G>A	uc002dsd.2	+	1	422	c.70G>A	c.(70-72)GCA>ACA	p.A24T	uc010vct.1_Intron|SPNS1_uc010byq.1_3'UTR|LAT_uc010vdj.1_Missense_Mutation_p.A60T|LAT_uc002dsb.2_Missense_Mutation_p.A24T|LAT_uc002dsc.2_Missense_Mutation_p.A24T|LAT_uc010vdk.1_Missense_Mutation_p.A24T|LAT_uc010vdl.1_Missense_Mutation_p.A24T	NM_014387	NP_055202	O43561	LAT_HUMAN	linker for activation of T cells isoform a	24	Helical; Signal-anchor for type III membrane protein; (Potential).				calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity				0		Hepatocellular(780;0.244)				CATGTTGATGGCACTGTGTGT	0.662													A	28996808	G	A	28996808	3	1	98	1	0	0	0	0	1	0	0	0	8644	1203	42	2	184	2	LAT	16	28996808	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	97853	28996808	61357945	1311	65641											
SPN	6693	broad.mit.edu	37	chr16	29675057	29675057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgcctggaaatggccaCgcttctccttctccttgggg	11	12	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:29675057C>T	uc002dtm.2	+	2	144	c.8C>T	c.(7-9)ACG>ATG	p.T3M	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Missense_Mutation_p.T3M|SPN_uc010bzd.2_RNA	NM_001030288	NP_001025459	P16150	LEUK_HUMAN	sialophorin precursor	3					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)	2						GAAATGGCCACGCTTCTCCTT	0.632													T	29675057	C	T	29675057	3	4	98	1	0	0	0	0	1	0	0	0	15072	536	19	1	10	1	SPN	16	29675057	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	678249	29675057	60679696	1312	65642											
KIF22	3835	broad.mit.edu	37	chr16	29814177	29814177	+	Frame_Shift_Del	DEL	G	G	-													cttgcctcccaggggagccaGggggcccctctgttgagtac							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:29814176_29814176AG>A	uc002dts.3	+	8	1390	c.1367_1367AG>A	c.(1366-1368)cagfs	p.Q456fs	BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Frame_Shift_Del_p.Q388fs|KIF22_uc010vdw.1_Frame_Shift_Del_p.Q388fs|KIF22_uc002frc.1_5'Flank	NM_007317	NP_015556	Q14807	KIF22_HUMAN	Homo sapiens kinesin family member 22 (KIF22), transcript variant 1, mRNA.	456				APASASQKLSPLQKLSSMDPAMLERLLSLDRLLASQGSQ -> SSSLCLPETQPPTEAKAAWTRPCGAPPQLGPSACLPGE P (in Ref. 2; BAA33063).	DNA repair|blood coagulation|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CAGGGGAGCCAGGGGGCCCCT	0.577													-	29814177	G	-	29814177	7	5	98	1	0	1	0	1	0	0	0	0	8290	991	35	0	1402	0	KIF22	16	29814177	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	139120	29814177	60540576	1313	65643											
MAZ	4150	broad.mit.edu	37	chr16	29818097	29818097	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggactcccggggggtgggCggcctcatgaactccttccc	14	15	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:29818097C>T	uc002dty.2	+	1	243	c.75C>T	c.(73-75)GGC>GGT	p.G25G	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Intron|MAZ_uc002dtw.2_Silent_p.G25G|MAZ_uc002dtx.2_Silent_p.G25G|MAZ_uc010bzg.2_Silent_p.G25G|MAZ_uc002dtz.1_5'Flank|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank	NM_002383	NP_002374	P56270	MAZ_HUMAN	MYC-associated zinc finger protein isoform 1	25					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1						GGGGGGTGGGCGGCCTCATGA	0.726													T	29818097	C	T	29818097	2	4	98	1	0	0	0	0	0	0	0	1	9340	755	27	1		1	MAZ	16	29818097	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3920	29818097	60536656	1314	65644											
ZNF785	146540	broad.mit.edu	37	chr16	30594461	30594461	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgatgctggagcaggtacCtgcgctgggagaaacgcgcc	15	11	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:30594461C>A	uc002dyw.1	-	3	716	c.638G>T	c.(637-639)AGG>ATG	p.R213M	uc002dyu.2_RNA|ZNF785_uc002dyv.1_Missense_Mutation_p.R198M|ZNF785_uc010vez.1_Missense_Mutation_p.R178M	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN	zinc finger protein 785	213	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GAGCAGGTACCTGCGCTGGGA	0.677													A	30594461	C	A	30594461	3	1	98	1	0	0	0	0	1	0	0	0	18154	681	24	5	583	5	ZNF785	16	30594461	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	776364	30594461	59760292	1315	65645											
BCL7C	9274	broad.mit.edu	37	chr16	30903991	30903991	+	Frame_Shift_Del	DEL	G	G	-													tgacacagggcggctgggctGgggggtgcccccaggactgg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:30903991delG	uc002dzv.2	-	4	492	c.358delC	c.(358-360)CAGfs	p.Q120fs	BCL7C_uc002dzt.1_Frame_Shift_Del_p.Q120fs|uc002dzu.2_Intron|MIR762_hsa-mir-762|MI0003892_5'Flank	NM_004765	NP_004756	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	120	Pro-rich.				apoptosis						0			Colorectal(24;0.198)			CGGCTGGGCTGGGGGGTGCCC	0.647													-	30903991	G	-	30903991	7	5	98	1	0	1	0	1	0	0	0	0	1380	1357	47	0	307	0	BCL7C	16	30903991	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	309530	30903991	59450762	1316	65646											
STX1B	112755	broad.mit.edu	37	chr16	31004789	31004789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgcctgcttcgtcatcTgtgagtccattttgatctag	9	11	4	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:31004789T>C	uc010cad.2	-	8	666	c.554A>G	c.(553-555)CAG>CGG	p.Q185R	STX1B_uc010vfd.1_Missense_Mutation_p.Q185R	NM_052874	NP_443106	P61266	STX1B_HUMAN	syntaxin 1B	185	Cytoplasmic (Potential).				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity				0						CTTCGTCATCTGTGAGTCCAT	0.483													C	31004789	T	C	31004789	3	2	98	1	0	0	0	0	1	0	0	0	15343	1580	55	3	324	3	STX1B	16	31004789	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	100798	31004789	59349964	1317	65647											
PRSS53	339105	broad.mit.edu	37	chr16	31097788	31097788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgactgatgagacgcaggCgcagattgcgtagggtccca	16	10	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:31097788C>T	uc002eaq.2	-	5	533	c.533G>A	c.(532-534)CGC>CAC	p.R178H	PRSS53_uc002ear.2_5'UTR	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN	polyserase 3 precursor	178	Peptidase S1 1.				proteolysis	extracellular region	serine-type endopeptidase activity				0						GAGACGCAGGCGCAGATTGCG	0.617													T	31097788	C	T	31097788	3	4	98	1	0	0	0	0	1	0	0	0	12632	768	27	1	1156	1	PRSS53	16	31097788	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	92999	31097788	59256965	1318	65648											
TRIM72	493829	broad.mit.edu	37	chr16	31235606	31235606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagaaggcgccgccggccGgggaggacccgcgccagttc	17	15	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:31235606G>A	uc002ebn.1	+	7	1193	c.964G>A	c.(964-966)GGG>AGG	p.G322R	uc002ebp.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	tripartite motif-containing 72	322	B30.2/SPRY.				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding				0						GCCGCCGGCCGGGGAGGACCC	0.701													A	31235606	G	A	31235606	3	1	98	1	0	0	0	0	1	0	0	0	16542	1116	39	1	986	1	TRIM72	16	31235606	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	137818	31235606	59119147	1319	65649											
ABCC11	85320	broad.mit.edu	37	chr16	48256660	48256660	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacacattcggagagaaaaAgggcaaagcagagtcccact	10	10	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:48256660A>G	uc002eff.1	-	5	976	c.626T>C	c.(625-627)CTT>CCT	p.L209P	ABCC11_uc002efg.1_Missense_Mutation_p.L209P|ABCC11_uc002efh.1_Missense_Mutation_p.L209P|ABCC11_uc010vgl.1_Missense_Mutation_p.L209P	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	209	ABC transmembrane type-1 1.|Helical; (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GGAGAGAAAAAGGGCAAAGCA	0.468									Cerumen_Type				G	48256660	A	G	48256660	3	3	98	1	0	0	0	0	1	0	0	0	51	72	3	3	3622	3	ABCC11	16	48256660	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	17021054	48256660	42098093	1320	65650											
ZNF423	23090	broad.mit.edu	37	chr16	49671222	49671222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagccgctgccgcttcgggGaagacacctccacatcggac	12	15	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:49671222G>A	uc002efs.2	-	5	2139	c.1841C>T	c.(1840-1842)TCC>TTC	p.S614F	ZNF423_uc010vgn.1_Missense_Mutation_p.S497F	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	614					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				CCGCTTCGGGGAAGACACCTC	0.552													A	49671222	G	A	49671222	3	1	98	1	0	0	0	0	1	0	0	0	17895	1174	41	4	2033	4	ZNF423	16	49671222	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1414562	49671222	40683531	1321	65651											
ZNF423	23090	broad.mit.edu	37	chr16	49671937	49671937	+	Frame_Shift_Del	DEL	C	C	-													ggagccacgctccacagaggCgctggagtcgggtgtggcgc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:49671936_49671936GC>G	uc002efs.3	-	4	1425	c.1127_1127GC>C	c.(1126-1128)gccfs	p.A376fs	ZNF423_uc010vgn.2_Frame_Shift_Del_p.A259fs	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	376					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTCCACAGAGGCGCTGGAGTC	0.667													-	49671937	C	-	49671937	7	5	98	1	0	1	0	1	0	0	0	0	17895	768	27	0	2748	0	ZNF423	16	49671937	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	715	49671937	40682816	1322	65652											
CYLD	1540	broad.mit.edu	37	chr16	50785686	50785686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggggacacaatgcaggtcGaacttcctcctttggaaata	10	10	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:50785686G>A	uc002egp.1	+	5	1091	c.676G>A	c.(676-678)GAA>AAA	p.E226K	CYLD_uc002egn.1_Missense_Mutation_p.E226K|CYLD_uc002ego.2_Missense_Mutation_p.E226K|CYLD_uc010cbs.1_Missense_Mutation_p.E226K|CYLD_uc002egq.1_Missense_Mutation_p.E226K|CYLD_uc002egr.1_Missense_Mutation_p.E226K|CYLD_uc002egs.1_Missense_Mutation_p.E226K	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	226	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				AATGCAGGTCGAACTTCCTCC	0.418			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial				A	50785686	G	A	50785686	3	1	98	1	0	0	0	0	1	0	0	0	4143	1059	37	1	682	1	CYLD	16	50785686	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1113749	50785686	39569067	1323	65653											
IRX6	79190	broad.mit.edu	37	chr16	55359040	55359040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggacacccgtaccgcggcGcttcccaggtaagaggcgcc	13	15	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:55359040G>A	uc002ehy.2	+	1	570	c.37G>A	c.(37-39)GCT>ACT	p.A13T	IRX6_uc002ehx.2_Missense_Mutation_p.A13T|IRX6_uc010ccb.1_5'Flank	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	13						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						GTACCGCGGCGCTTCCCAGGT	0.627													A	55359040	G	A	55359040	3	1	98	1	0	0	0	0	1	0	0	0	7848	1087	38	1	39	1	IRX6	16	55359040	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	4573354	55359040	34995713	1324	65654											
OGFOD1	55239	broad.mit.edu	37	chr16	56501132	56501132	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctataagtggctggtttcAtggtccatcattgactcggc	11	9	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:56501132A>G	uc002ejb.2	+	7	814	c.713A>G	c.(712-714)CAT>CGT	p.H238R	OGFOD1_uc002ejc.2_Missense_Mutation_p.H98R	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase	238	Fe2OG dioxygenase.						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)	1					Vitamin C(DB00126)	GGCTGGTTTCATGGTCCATCA	0.478													G	56501132	A	G	56501132	3	3	98	1	0	0	0	0	1	0	0	0	10841	217	8	3	739	3	OGFOD1	16	56501132	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1142092	56501132	33853621	1325	65655											
CETP	1071	broad.mit.edu	37	chr16	56996925	56996925	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgccctcccctctagtgaAccacgagactgccaaggtga	9	15	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:56996925A>G	uc002eki.2	+	2	179	c.122A>G	c.(121-123)AAC>AGC	p.N41S	CETP_uc002ekj.2_Missense_Mutation_p.N41S	NM_000078	NP_000069	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	41					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			central_nervous_system(1)|skin(1)	2						CCTCTAGTGAACCACGAGACT	0.612													G	56996925	A	G	56996925	3	3	98	1	0	0	0	0	1	0	0	0	3277	43	2	3	128	3	CETP	16	56996925	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	495793	56996925	33357828	1326	65656											
NLRC5	84166	broad.mit.edu	37	chr16	57054733	57054733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagatgaagttcttcctcCccaacacggacctggattcc	7	15	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:57054733C>T	uc002ekk.1	+	3	334	c.109C>T	c.(109-111)CCC>TCC	p.P37S	NLRC5_uc010ccq.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	37					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				GTTCTTCCTCCCCAACACGGA	0.557													T	57054733	C	T	57054733	3	4	98	1	0	0	0	0	1	0	0	0	10470	623	22	4	111	4	NLRC5	16	57054733	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	57808	57054733	33300020	1327	65657											
NLRC5	84166	broad.mit.edu	37	chr16	57095358	57095358	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccctggctttctgccctcAggctaagtgagtgcagcttc	11	13	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:57095358A>G	uc002ekk.1	+	31	4212	c.3987_splice	c.e31-2	p.R1329_splice	NLRC5_uc002ekn.2_Splice_Site_p.R990_splice|NLRC5_uc002ekl.2_Splice_Site_p.R1133_splice|NLRC5_uc002ekm.2_Splice_Site_p.R1103_splice|NLRC5_uc010ccr.1_Splice_Site|NLRC5_uc010ccs.1_Splice_Site|NLRC5_uc002eko.1_Splice_Site|NLRC5_uc002ekp.1_Splice_Site_p.R244_splice|NLRC5_uc002ekq.1_Splice_Site|NLRC5_uc002ekr.1_Splice_Site_p.R216_splice	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27						defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				TTCTGCCCTCAGGCTAAGTGA	0.647													G	57095358	A	G	57095358	5	3	98	1	0	0	0	0	0	0	1	0	10470	202	7	3	4099	3	NLRC5	16	57095358	Splice_Site	SNP	A	TCGA-BR-8591-01A-11D-2394-08	40625	57095358	33259395	1328	65658											
SETD6	79918	broad.mit.edu	37	chr16	58550381	58550381	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgtgggtgtccctgcaGgccagaggaggagcgccggt	20	9	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:58550381G>A	uc002ens.2	+	4	536	c.477_splice	c.e4-1	p.W159_splice	SETD6_uc010cdl.2_Splice_Site_p.W159_splice|SETD6_uc002enr.2_Splice_Site_p.W135_splice|SETD6_uc010cdm.2_Splice_Site|SETD6_uc010vij.1_Splice_Site_p.W83_splice	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN	SET domain containing 6 isoform a						negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			ovary(1)	1						TGTCCCTGCAGGCCAGAGGAG	0.617													A	58550381	G	A	58550381	5	1	98	1	0	0	0	0	0	0	1	0	14135	1014	35	4	490	4	SETD6	16	58550381	Splice_Site	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1455023	58550381	31804372	1329	65659											
CNOT1	23019	broad.mit.edu	37	chr16	58566207	58566207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattgagttccaagagaagCatgataaaaattcgatggta	10	5	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:58566207C>T	uc002env.2	-	41	6281	c.5988G>A	c.(5986-5988)ATG>ATA	p.M1996I	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.M1991I|CNOT1_uc002ent.2_5'UTR|CNOT1_uc010vik.1_Missense_Mutation_p.M953I	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1996					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCAAGAGAAGCATGATAAAAA	0.408													T	58566207	C	T	58566207	3	4	98	1	0	0	0	0	1	0	0	0	3617	710	25	2	1178	2	CNOT1	16	58566207	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	15826	58566207	31788546	1330	65660											
CDH8	1006	broad.mit.edu	37	chr16	61891117	61891117	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgggtcatcagcgtcggtCgcagtgacgttagtgacaga	14	9	2	3	rs150771208	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:61891117C>T	uc002eog.1	-	4	825	c.573G>A	c.(571-573)GCG>GCA	p.A191A	CDH8_uc002eoh.2_5'UTR	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	191	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CAGCGTCGGTCGCAGTGACGT	0.373													T	61891117	C	T	61891117	2	4	98	1	0	0	0	0	0	0	0	1	3116	871	31	1		1	CDH8	16	61891117	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3324910	61891117	28463636	1331	65661											
CES3	23491	broad.mit.edu	37	chr16	67006313	67006313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcgacccagttcttttgCgaagatcaaacctgcctggg	10	12	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:67006313C>T	uc002eqt.2	+	11	1419	c.1346C>T	c.(1345-1347)GCG>GTG	p.A449V	CES3_uc010cdz.2_Missense_Mutation_p.A449V|CES3_uc010cea.2_RNA|CES3_uc010viw.1_Missense_Mutation_p.A88V	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	carboxylesterase 3 precursor	449						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			ovary(3)|central_nervous_system(2)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AGTTCTTTTGCGAAGATCAAA	0.537													T	67006313	C	T	67006313	3	4	98	1	0	0	0	0	1	0	0	0	3271	768	27	1	1388	1	CES3	16	67006313	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	5115196	67006313	23348440	1332	65662											
SLC9A5	6553	broad.mit.edu	37	chr16	67298313	67298313	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcaggagcggcaggacaAggaggtcttccagcagaaca	15	10	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:67298313A>C	uc002esm.2	+	13	1964	c.1901A>C	c.(1900-1902)AAG>ACG	p.K634T	SLC9A5_uc010cee.2_Missense_Mutation_p.K339T|SLC9A5_uc010vji.1_Missense_Mutation_p.K138T	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	634					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGGCAGGACAAGGAGGTCTTC	0.572													C	67298313	A	C	67298313	3	2	98	1	0	0	0	0	1	0	0	0	14717	72	3	5	1951	5	SLC9A5	16	67298313	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	292000	67298313	23056440	1333	65663											
LRRC36	55282	broad.mit.edu	37	chr16	67418856	67418856	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggaaagcgctcctgcctcCtgagaagggtcatcatctgg	13	12	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:67418856C>A	uc002esv.2	+	14	2148	c.2129C>A	c.(2128-2130)CCT>CAT	p.P710H	LRRC36_uc002esw.2_RNA|LRRC36_uc002esx.2_Missense_Mutation_p.P589H|LRRC36_uc010vjk.1_Missense_Mutation_p.P485H|LRRC36_uc010vjl.1_Missense_Mutation_p.P182H|LRRC36_uc002esy.2_Missense_Mutation_p.P220H	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36 isoform 1	710											0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CTCCTGCCTCCTGAGAAGGGT	0.512													A	67418856	C	A	67418856	3	1	98	1	0	0	0	0	1	0	0	0	8990	681	24	5	2211	5	LRRC36	16	67418856	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	120543	67418856	22935897	1334	65664											
CTRL	1506	broad.mit.edu	37	chr16	67965049	67965049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaacactgcattctccccGttgacaatcctctggctgaa	6	16	2	2	rs146079104	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:67965049G>A	uc002euw.2	-	2	118	c.108C>T	c.(106-108)AAC>AAT	p.N36N		NM_001907	NP_001898	P40313	CTRL_HUMAN	chymotrypsin-like precursor	36	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CATTCTCCCCGTTGACAATCC	0.622													A	67965049	G	A	67965049	2	1	98	1	0	0	0	0	0	0	0	1	4028	1136	40	1		1	CTRL	16	67965049	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	546193	67965049	22389704	1335	65665											
SMPD3	55512	broad.mit.edu	37	chr16	68405291	68405291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctccgttcctggcctggCccccaggcacagggtcgtca	12	17	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:68405291C>T	uc002ewa.2	-	3	1216	c.794G>A	c.(793-795)GGC>GAC	p.G265D	SMPD3_uc010cfe.2_Missense_Mutation_p.G265D|SMPD3_uc010vlh.1_Missense_Mutation_p.G265D	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	265	Lumenal (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CCTGGCCTGGCCCCCAGGCAC	0.711													T	68405291	C	T	68405291	3	4	98	1	0	0	0	0	1	0	0	0	14806	739	26	2	1201	2	SMPD3	16	68405291	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	440242	68405291	21949462	1336	65666											
ZFP90	146198	broad.mit.edu	37	chr16	68597621	68597621	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ataccggagagaaaccctatCagtgtagtctctgtgggaaa	11	8	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:68597621C>T	uc010cff.2	+	5	1223	c.931C>T	c.(931-933)CAG>TAG	p.Q311*	ZFP90_uc002ewb.2_Silent_p.I116I|ZFP90_uc002ewc.2_Silent_p.I116I|ZFP90_uc002ewd.2_Nonsense_Mutation_p.Q311*|ZFP90_uc002ewe.2_Nonsense_Mutation_p.Q311*	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	zinc finger protein 90	311	C2H2-type 4.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		GAAACCCTATCAGTGTAGTCT	0.488													T	68597621	C	T	68597621	4	4	98	1	0	0	0	0	0	1	0	0	17651	827	29	4	945	4	ZFP90	16	68597621	Nonsense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	192330	68597621	21757132	1337	65667											
DDX19A	55308	broad.mit.edu	37	chr16	70400065	70400065	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggactggtgctccaagctcAagttcattgatcccaagaaa	9	10	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:70400065A>G	uc002eyv.2	+	8	753	c.682A>G	c.(682-684)AAG>GAG	p.K228E	DDX19B_uc010vly.1_Intron|DDX19A_uc002eys.2_Missense_Mutation_p.K229E|DDX19A_uc010cfq.1_5'UTR|DDX19A_uc010cfr.2_Missense_Mutation_p.K78E|DDX19A_uc010cfs.2_Missense_Mutation_p.K51E|DDX19A_uc010vlz.1_Missense_Mutation_p.K197E|DDX19A_uc010vma.1_Missense_Mutation_p.K138E	NM_018332	NP_060802	Q9NUU7	DD19A_HUMAN	DDX19-like protein	228	Helicase ATP-binding.				mRNA transport|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding				0		Ovarian(137;0.221)				CTCCAAGCTCAAGTTCATTGA	0.517													G	70400065	A	G	70400065	3	3	98	1	0	0	0	0	1	0	0	0	4346	131	5	3	712	3	DDX19A	16	70400065	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1802444	70400065	19954688	1338	65668											
MTSS1L	92154	broad.mit.edu	37	chr16	70698348	70698348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggagtagcagtcgtagtcGgagcctgggggcacgggaca	18	9	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:70698348G>A	uc002ezj.2	-	15	1736	c.1476C>T	c.(1474-1476)TCC>TCT	p.S492S		NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	492					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1						AGTCGTAGTCGGAGCCTGGGG	0.677													A	70698348	G	A	70698348	2	1	98	1	0	0	0	0	0	0	0	1	9963	1103	39	1		1	MTSS1L	16	70698348	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	298283	70698348	19656405	1339	65669											
HYDIN	54768	broad.mit.edu	37	chr16	71209609	71209609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgattactttaaagtaaggCgaactttcttccacaacttt	5	9	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:71209609C>T	uc002ezr.2	-	5	545	c.417G>A	c.(415-417)TCG>TCA	p.S139S	HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Silent_p.S139S|HYDIN_uc010vmc.1_Silent_p.S156S|HYDIN_uc010vmd.1_Silent_p.S166S|HYDIN_uc002ezw.3_Silent_p.S156S	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	139										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TAAAGTAAGGCGAACTTTCTT	0.358													T	71209609	C	T	71209609	2	4	98	1	0	0	0	0	0	0	0	1	7467	755	27	1		1	HYDIN	16	71209609	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	511261	71209609	19145144	1340	65670											
CHST4	10164	broad.mit.edu	37	chr16	71571012	71571012	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgacatcatcccacaagaTgaaatcatcccccgggctca	7	14	3	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:71571012T>C	uc002fan.2	+	2	613	c.432T>C	c.(430-432)GAT>GAC	p.D144D	CHST4_uc002fao.2_Silent_p.D144D	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	144	Lumenal (Potential).				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity				0						TCCCACAAGATGAAATCATCC	0.602													C	71571012	T	C	71571012	2	2	98	1	0	0	0	0	0	0	0	1	3406	1461	51	3		3	CHST4	16	71571012	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	361403	71571012	18783741	1341	65671											
PHLPP2	23035	broad.mit.edu	37	chr16	71748554	71748554	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaagaggaagaggaggTggtggtggttgtagtggcag	23	1	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:71748554T>C	uc002fax.2	-	1	151	c.145A>G	c.(145-147)ACC>GCC	p.T49A	PHLPP2_uc010cgf.2_Missense_Mutation_p.T49A|PHLPP2_uc002fay.1_Missense_Mutation_p.T49A	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	49	Poly-Thr.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						gaagaggaggTGGTGGTGGTT	0.388													C	71748554	T	C	71748554	3	2	98	1	0	0	0	0	1	0	0	0	11855	1696	59	3	3898	3	PHLPP2	16	71748554	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	177542	71748554	18606199	1342	65672											
WDR59	79726	broad.mit.edu	37	chr16	74985388	74985388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggccttgtaaggttgtGccaacttccccactgccgtc	11	13	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:74985388G>A	uc002fdh.1	-	4	396	c.294C>T	c.(292-294)GGC>GGT	p.G98G	WDR59_uc002fdi.2_Silent_p.G98G|WDR59_uc002fdj.2_Silent_p.G98G	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	98	WD 1.									ovary(1)|breast(1)	2						GTAAGGTTGTGCCAACTTCCC	0.493													A	74985388	G	A	74985388	2	1	98	1	0	0	0	0	0	0	0	1	17305	1306	46	2		2	WDR59	16	74985388	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3236834	74985388	15369365	1343	65673											
MON1B	22879	broad.mit.edu	37	chr16	77228987	77228987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcggggcgccgggcctcCggcacttcctgtataagccg	14	15	0	0	rs2232507		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:77228987C>T	uc002fez.2	+	4	1561	c.1231C>T	c.(1231-1233)CGG>TGG	p.R411W	MON1B_uc010vnf.1_Missense_Mutation_p.R302W|MON1B_uc010vng.1_Missense_Mutation_p.R265W|MON1B_uc002ffa.2_Missense_Mutation_p.R291W	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	MON1 homolog B	411							protein binding				0						GCCGGGCCTCCGGCACTTCCT	0.642													T	77228987	C	T	77228987	3	4	98	1	0	0	0	0	1	0	0	0	9699	643	23	1	1241	1	MON1B	16	77228987	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2243599	77228987	13125766	1344	65674											
ADAMTS18	170692	broad.mit.edu	37	chr16	77393314	77393314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacattccactgatggggGcaaaccctattgaaagagca	10	10	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:77393314G>A	uc002ffc.3	-	8	1642	c.1223C>T	c.(1222-1224)GCC>GTC	p.A408V	ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_Missense_Mutation_p.A104V|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	408	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						ACTGATGGGGGCAAACCCTAT	0.438													A	77393314	G	A	77393314	3	1	98	1	0	0	0	0	1	0	0	0	263	1203	42	2	2506	2	ADAMTS18	16	77393314	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	164327	77393314	12961439	1345	65675											
CLEC3A	10143	broad.mit.edu	37	chr16	78064352	78064352	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcttcacagtctgtctcCgaggcactaaagttcacaag	7	12	5	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:78064352C>T	uc002ffh.3	+	3	289	c.208C>T	c.(208-210)CGA>TGA	p.R70*		NM_005752	NP_005743	O75596	CLC3A_HUMAN	C-type lectin domain family 3 member A	70					skeletal system development	extracellular region	sugar binding				0						AGTCTGTCTCCGAGGCACTAA	0.413													T	78064352	C	T	78064352	4	4	98	1	0	0	0	0	0	1	0	0	3510	644	23	1	218	1	CLEC3A	16	78064352	Nonsense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	671038	78064352	12290401	1346	65676											
PKD1L2	114780	broad.mit.edu	37	chr16	81134773	81134773	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgagagtggcgagtctgGgacagagacccaggctgctc	17	10	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:81134773G>T	uc002fgh.1	-	45	7335	c.7335C>A	c.(7333-7335)TCC>TCA	p.S2445S	PKD1L2_uc002fgf.1_Silent_p.S245S|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	2445	Extracellular (Potential).|Interaction with GNAS and GNAI1.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GGCGAGTCTGGGACAGAGACC	0.567													T	81134773	G	T	81134773	2	4	98	1	0	0	0	0	0	0	0	1	11965	1219	43	5		5	PKD1L2	16	81134773	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3070421	81134773	9219980	1347	65677											
PKD1L2	114780	broad.mit.edu	37	chr16	81194324	81194324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacgaggtgagtttgggcatCgtagctgctcttgttggggt	16	6	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:81194324C>T	uc002fgh.1	-	22	3664	c.3664G>A	c.(3664-3666)GAT>AAT	p.D1222N	PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1222	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GTTTGGGCATCGTAGCTGCTC	0.557													T	81194324	C	T	81194324	3	4	98	1	0	0	0	0	1	0	0	0	11965	884	31	1	3802	1	PKD1L2	16	81194324	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	59551	81194324	9160429	1348	65678											
PLCG2	5336	broad.mit.edu	37	chr16	81957092	81957092	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgttttccctgaaagccTcagagaaccgtgaaagctct	8	11	3	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:81957092T>C	uc002fgt.2	+	22	2462	c.2310T>C	c.(2308-2310)CCT>CCC	p.P770P		NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	770	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						CCTGAAAGCCTCAGAGAACCG	0.557													C	81957092	T	C	81957092	2	2	98	1	0	0	0	0	0	0	0	1	12036	1538	54	3		3	PLCG2	16	81957092	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	762768	81957092	8397661	1349	65679											
OSGIN1	29948	broad.mit.edu	37	chr16	83991264	83991264	+	Frame_Shift_Del	DEL	C	C	-													ggtccgctgccagccccaagCcccccaccagccatgagctc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:83991264delC	uc002fha.2	+	3	620	c.237delC	c.(235-237)AGCfs	p.S79fs	OSGIN1_uc002fhb.2_5'UTR|OSGIN1_uc002fhc.2_5'UTR	NM_013370	NP_037502	Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	79					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity				0						CAGCCCCAAGCCCCCCACCAG	0.657													-	83991264	C	-	83991264	7	5	98	1	0	1	0	1	0	0	0	0	11289	738	26	0	247	0	OSGIN1	16	83991264	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	2034172	83991264	6363489	1350	65680											
OSGIN1	29948	broad.mit.edu	37	chr16	83994314	83994314	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaagcaccggaaggagcaCgccatcccccacgtggttct	12	14	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:83994314C>T	uc002fha.2	+	5	977	c.594C>T	c.(592-594)CAC>CAT	p.H198H	OSGIN1_uc002fhb.2_Silent_p.H115H|OSGIN1_uc002fhc.2_Silent_p.H115H	NM_013370	NP_037502	Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	198					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity				0						GGAAGGAGCACGCCATCCCCC	0.647													T	83994314	C	T	83994314	2	4	98	1	0	0	0	0	0	0	0	1	11289	535	19	1		1	OSGIN1	16	83994314	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3050	83994314	6360439	1351	65681											
ZDHHC7	55625	broad.mit.edu	37	chr16	85010039	85010039	+	Frame_Shift_Del	DEL	G	G	-													ggattcatccagaggagtgaGgggggccccccaaagacgga							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:85010038_85010038AG>A	uc010voi.1	-	8	1302	c.949_949CT>T	c.(949-951)tcafs	p.S317fs	ZDHHC7_uc002fiq.2_Frame_Shift_Del_p.S280fs|ZDHHC7_uc002fir.1_Non-coding_Transcript	NM_001145548	NP_001139020	Q9NXF8	ZDHC7_HUMAN	Homo sapiens zinc finger, DHHC-type containing 7 (ZDHHC7), transcript variant 1, mRNA.	280						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						CAGAGGAGTGAGGGGGGCCCC	0.582													-	85010039	G	-	85010039	7	5	98	1	0	1	0	1	0	0	0	0	17617	987	35	0	93	0	ZDHHC7	16	85010039	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	1015725	85010039	5344714	1352	65682											
ZCCHC14	23174	broad.mit.edu	37	chr16	87446393	87446393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcacggaattcagcatgCggatgggtgtgatgtgtgag	17	5	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:87446393C>T	uc002fjz.1	-	12	1550	c.1523G>A	c.(1522-1524)CGC>CAC	p.R508H	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.R284H	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	508					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		ATTCAGCATGCGGATGGGTGT	0.562													T	87446393	C	T	87446393	3	4	98	1	0	0	0	0	1	0	0	0	17580	768	27	1	1334	1	ZCCHC14	16	87446393	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2436354	87446393	2908360	1353	65683											
SLC7A5	8140	broad.mit.edu	37	chr16	87870112	87870112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgggctcaccttgatggGccgctcaagctcaggctttc	11	16	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:87870112G>A	uc002fkm.2	-	8	1354	c.1282C>T	c.(1282-1284)CCC>TCC	p.P428S		NM_003486	NP_003477	Q01650	LAT1_HUMAN	solute carrier family 7 (cationic amino acid	428					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding				0				BRCA - Breast invasive adenocarcinoma(80;0.049)		ACCTTGATGGGCCGCTCAAGC	0.627													A	87870112	G	A	87870112	3	1	98	1	0	0	0	0	1	0	0	0	14700	1203	42	2	253	2	SLC7A5	16	87870112	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	423719	87870112	2484641	1354	65684											
ZC3H18	124245	broad.mit.edu	37	chr16	88694459	88694459	+	Frame_Shift_Del	DEL	C	C	-													cctcgacaccccagcaggcaCcccccgggcagccccagcag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:88694458_88694458AC>A	uc010voz.2	+	15	2672	c.2472_2472AC>A	c.(2470-2472)gcafs	p.A824fs	ZC3H18_uc002fky.3_Frame_Shift_Del_p.A800fs|ZC3H18_uc010chw.3_Intron|ZC3H18_uc002fkz.3_Frame_Shift_Del_p.A70fs	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	800						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCAGCAGGCACCCCCCGGGC	0.607													-	88694459	C	-	88694459	7	5	98	1	0	1	0	1	0	0	0	0	17565	507	18	0	2455	0	ZC3H18	16	88694459	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	824347	88694459	1660294	1355	65685											
ZC3H18	124245	broad.mit.edu	37	chr16	88697651	88697651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagctgctgaaacagctgAaggccgtggaggatgctatt	15	7	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:88697651A>G	uc002fky.2	+	18	3006	c.2806A>G	c.(2806-2808)AAG>GAG	p.K936E	ZC3H18_uc010voz.1_Missense_Mutation_p.K960E|ZC3H18_uc010chw.2_RNA|ZC3H18_uc002fkz.2_Missense_Mutation_p.K206E	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	936	Potential.					nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GAAACAGCTGAAGGCCGTGGA	0.627													G	88697651	A	G	88697651	3	3	98	1	0	0	0	0	1	0	0	0	17565	247	9	3	2872	3	ZC3H18	16	88697651	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	3192	88697651	1657102	1356	65686											
CTU2	348180	broad.mit.edu	37	chr16	88780094	88780094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggggacgtggtggtggtgCggcccatgcgggaccacacc	18	12	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:88780094C>T	uc002flm.2	+	9	961	c.913C>T	c.(913-915)CGG>TGG	p.R305W	CTU2_uc002fln.2_Missense_Mutation_p.R305W|CTU2_uc010chz.2_Missense_Mutation_p.R376W|CTU2_uc010cia.2_Missense_Mutation_p.R218W	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	cytoplasmic tRNA 2-thiolation protein 2 isoform	305					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			skin(1)	1						GGTGGTGGTGCGGCCCATGCG	0.652													T	88780094	C	T	88780094	3	4	98	1	0	0	0	0	1	0	0	0	4048	759	27	1	947	1	CTU2	16	88780094	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	82443	88780094	1574659	1357	65687											
CDH15	1013	broad.mit.edu	37	chr16	89258292	89258292	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccggaactggagcctcagCcaggtcaacggtgcgctccc	14	15	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:89258292C>T	uc002fmt.2	+	10	1682	c.1605C>T	c.(1603-1605)AGC>AGT	p.S535S		NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	535	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGAGCCTCAGCCAGGTCAACG	0.552													T	89258292	C	T	89258292	2	4	98	1	0	0	0	0	0	0	0	1	3100	738	26	2		2	CDH15	16	89258292	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	478198	89258292	1096461	1358	65688											
CPNE7	27132	broad.mit.edu	37	chr16	89644102	89644102	+	Frame_Shift_Del	DEL	G	G	-													tgtcaggaggacgatttcctGgggggcatggagtgcaccct							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:89644102delG	uc002fnp.2	+	2	460	c.330delG	c.(328-330)CTGfs	p.L110fs	CPNE7_uc002fnq.2_Frame_Shift_Del_p.L110fs	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	copine 7 isoform b	110	C2 1.				lipid metabolic process		transporter activity				0		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		ACGATTTCCTGGGGGGCATGG	0.647													-	89644102	G	-	89644102	7	5	98	1	0	1	0	1	0	0	0	0	3817	1335	47	0	336	0	CPNE7	16	89644102	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	385810	89644102	710651	1359	65689											
CPNE7	27132	broad.mit.edu	37	chr16	89645292	89645292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagtggcttctgcaagtcGtgatgagagtgtctgttgat	13	5	2	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:89645292G>A	uc002fnp.2	+	3	515	c.385G>A	c.(385-387)GTG>ATG	p.V129M	CPNE7_uc002fnq.2_Intron	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	copine 7 isoform b	129					lipid metabolic process		transporter activity				0		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TCTGCAAGTCGTGATGAGAGT	0.587													A	89645292	G	A	89645292	3	1	98	1	0	0	0	0	1	0	0	0	3817	1145	40	1	395	1	CPNE7	16	89645292	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1190	89645292	709461	1360	65690											
CHMP1A	5119	broad.mit.edu	37	chr16	89713100	89713100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgtggtcagggtggtggccGagctcatggagtcctccatc	16	11	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:89713100G>A	uc002fnu.2	-	6	537	c.404C>T	c.(403-405)TCG>TTG	p.S135L	CHMP1A_uc002fnt.2_Silent_p.L23L|CHMP1A_uc002fnv.2_Silent_p.L128L	NM_002768	NP_002759	Q9HD42	CHM1A_HUMAN	chromatin modifying protein 1A isoform 2	135					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding				0		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		GGTGGTGGCCGAGCTCATGGA	0.652													A	89713100	G	A	89713100	3	1	98	1	0	0	0	0	1	0	0	0	3352	1059	37	1	346	1	CHMP1A	16	89713100	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	67808	89713100	641653	1361	65691											
DEF8	54849	broad.mit.edu	37	chr16	90028534	90028534	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagctggtggagattcgcGtgaggctggggccatggaag	20	6	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:90028534G>A	uc002fpn.1	+	9	1193	c.1104_splice	c.e9+1	p.R368_splice	DEF8_uc002fpo.1_Splice_Site_p.R307_splice|DEF8_uc002fpp.1_Splice_Site_p.R297_splice|DEF8_uc010vpq.1_Splice_Site_p.R247_splice|DEF8_uc010vpr.1_Splice_Site_p.R307_splice|DEF8_uc002fpq.1_5'Flank	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 isoform 1						intracellular signal transduction		zinc ion binding			central_nervous_system(1)	1		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GGAGATTCGCGTGAGGCTGGG	0.667													A	90028534	G	A	90028534	5	1	98	1	0	0	0	0	0	0	1	0	4387	1159	40	1	1215	1	DEF8	16	90028534	Splice_Site	SNP	G	TCGA-BR-8591-01A-11D-2394-08	315434	90028534	326219	1362	65692											
GAS8	2622	broad.mit.edu	37	chr16	90097848	90097848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagaagaaggctgagctgCggaacaaagaccgggagatg	17	6	0	5			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:90097848C>T	uc002fqi.1	+	3	354	c.232C>T	c.(232-234)CGG>TGG	p.R78W	GAS8_uc010vps.1_Missense_Mutation_p.R53W|GAS8_uc002fqh.2_5'UTR|GAS8_uc010vpt.1_Missense_Mutation_p.R78W|GAS8_uc010vpu.1_5'UTR|GAS8_uc010vpv.1_Missense_Mutation_p.R49W|GAS8_uc010cjc.1_5'UTR|GAS8_uc010vpw.1_5'UTR|GAS8_uc002fqj.1_5'UTR|C16orf3_uc002fqk.1_5'Flank	NM_001481	NP_001472	O95995	GAS8_HUMAN	growth arrest-specific 8	78	Regulates microtubule-binding (By similarity).				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		GGCTGAGCTGCGGAACAAAGA	0.602													T	90097848	C	T	90097848	3	4	98	1	0	0	0	0	1	0	0	0	6251	759	27	1	242	1	GAS8	16	90097848	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	69314	90097848	256905	1363	65693											
TIMM22	29928	broad.mit.edu	37	chr17	900433	900433	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggcccctgagacagcgggTtccgccgaagctccgctgca	13	16	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:900433T>C	uc002fsc.2	+	1	77	c.51T>C	c.(49-51)GGT>GGC	p.G17G		NM_013337	NP_037469	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22	17					transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AGACAGCGGGTTCCGCCGAAG	0.697													C	900433	T	C	900433	2	2	98	1	0	0	0	0	0	0	0	1	15907	1712	60	3		3	TIMM22	17	900433	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08		900433	80294777	1364	65694											
SMYD4	114826	broad.mit.edu	37	chr17	1684630	1684630	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagtccaacaaacaggattTcatcttctggagctcctgga	8	10	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:1684630T>C	uc002ftm.3	-	11	2533	c.2365A>G	c.(2365-2367)AAA>GAA	p.K789E		NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	789							zinc ion binding			skin(3)|kidney(2)	5						AAACAGGATTTCATCTTCTGG	0.527													C	1684630	T	C	1684630	3	2	98	1	0	0	0	0	1	0	0	0	14824	1792	62	3	53	3	SMYD4	17	1684630	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	784197	1684630	79510580	1365	65695											
HIC1	3090	broad.mit.edu	37	chr17	1961428	1961428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggggctccgggtggcctgGgagagctgctgcggccctac	18	14	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:1961428G>A	uc010cjy.2	+	2	1501	c.1501G>A	c.(1501-1503)GGA>AGA	p.G501R	HIC1_uc002fty.3_Missense_Mutation_p.G482R|HIC1_uc002ftz.3_Missense_Mutation_p.G482R	NM_001098202	NP_001091672	Q14526	HIC1_HUMAN	hypermethylated in cancer 1 isoform 2	501					multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1				READ - Rectum adenocarcinoma(1115;0.236)		GGGTGGCCTGGGAGAGCTGCT	0.751													A	1961428	G	A	1961428	3	1	98	1	0	0	0	0	1	0	0	0	7101	1233	43	4	1507	4	HIC1	17	1961428	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	276798	1961428	79233782	1366	65696											
METT10D	79066	broad.mit.edu	37	chr17	2324130	2324130	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggataattccttcatcacGgacgccagcaccacgaatgt	9	12	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:2324130G>A	uc002fut.2	-	9	1105	c.957C>T	c.(955-957)TCC>TCT	p.S319S	METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Intron|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_Silent_p.S101S	NM_024086	NP_076991	Q86W50	MET16_HUMAN	methyltransferase 10 domain containing	319							methyltransferase activity				0						CCTTCATCACGGACGCCAGCA	0.453													A	2324130	G	A	2324130	2	1	98	1	0	0	0	0	0	0	0	1	9490	1103	39	1		1	METT10D	17	2324130	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	362702	2324130	78871080	1367	65697											
OR1A1	8383	broad.mit.edu	37	chr17	3119024	3119024	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgttcatttaccccaTcacattgattggaaacctgc	5	12	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:3119024T>C	uc010vrc.1	+	1	110	c.110T>C	c.(109-111)ATC>ACC	p.I37T		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A,	37	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						ATTTACCCCATCACATTGATT	0.458													C	3119024	T	C	3119024	3	2	98	1	0	0	0	0	1	0	0	0	10949	1435	50	3	112	3	OR1A1	17	3119024	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	794894	3119024	78076186	1368	65698											
TRPV1	7442	broad.mit.edu	37	chr17	3475428	3475428	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcattacctgaagcaccacCggtagtcgtccttgccatca	9	14	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:3475428C>G	uc010vrr.1	-	13	2746	c.2219G>C	c.(2218-2220)CGG>CCG	p.R740P	TRPV1_uc010vro.1_Missense_Mutation_p.R751P|TRPV1_uc010vrp.1_Missense_Mutation_p.R680P|TRPV1_uc010vrq.1_Missense_Mutation_p.R738P|TRPV1_uc010vrs.1_Missense_Mutation_p.R740P|TRPV1_uc010vrt.1_Missense_Mutation_p.R740P|TRPV1_uc010vru.1_Missense_Mutation_p.R740P	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	740	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GAAGCACCACCGGTAGTCGTC	0.602													G	3475428	C	G	3475428	3	3	98	1	0	0	0	0	1	0	0	0	16592	652	23	5	312	5	TRPV1	17	3475428	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	356404	3475428	77719782	1369	65699											
GSG2	83903	broad.mit.edu	37	chr17	3628052	3628052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcctgctgtaaaaggaaaCtggtggtgggaaatggacca	14	6	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:3628052C>T	uc002fwp.2	+	1	856	c.823C>T	c.(823-825)CTG>TTG	p.L275L	ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	haspin	275					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity				0						TAAAAGGAAACTGGTGGTGGG	0.532													T	3628052	C	T	3628052	2	4	98	1	0	0	0	0	0	0	0	1	6822	564	20	4		4	GSG2	17	3628052	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	152624	3628052	77567158	1370	65700											
MYBBP1A	10514	broad.mit.edu	37	chr17	4442846	4442846	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgatttgcccaagacccccTttttgggaagagccttctga	10	11	1	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:4442846T>C	uc002fyb.3	-	26	3913	c.3851A>G	c.(3850-3852)AAG>AGG	p.K1284R	MYBBP1A_uc002fxz.3_Missense_Mutation_p.K1284R|SPNS2_uc002fxx.2_3'UTR|SPNS2_uc002fxy.2_3'UTR|MYBBP1A_uc002fya.3_Missense_Mutation_p.K229R|MYBBP1A_uc010vsa.1_Missense_Mutation_p.K326R	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	1284	Required for nuclear and nucleolar localization (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						CAAGACCCCCTTTTTGGGAAG	0.582													C	4442846	T	C	4442846	3	2	98	1	0	0	0	0	1	0	0	0	10008	1609	56	3	179	3	MYBBP1A	17	4442846	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	814794	4442846	76752364	1371	65701											
TM4SF5	9032	broad.mit.edu	37	chr17	4685824	4685824	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcggtcttctcctcggcGttcggggtgcttggtgccat	14	13	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:4685824G>A	uc002fyw.1	+	3	316	c.285G>A	c.(283-285)GCG>GCA	p.A95A		NM_003963	NP_003954	O14894	T4S5_HUMAN	transmembrane 4 superfamily member 5	95	Helical; (Potential).					integral to plasma membrane				ovary(1)	1						TCTCCTCGGCGTTCGGGGTGC	0.627													A	4685824	G	A	4685824	2	1	98	1	0	0	0	0	0	0	0	1	15968	1132	40	1		1	TM4SF5	17	4685824	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	242978	4685824	76509386	1372	65702											
CAMTA2	23125	broad.mit.edu	37	chr17	4884998	4885000	+	In_Frame_Del	DEL	CTC	CTC	-													ggcttcagctgtcccaacaaCtcctcccgggaccacttcag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:4884997_4884999ACTC>A	uc010cku.2	-	6	1020_1022	c.608_610GAGT>T	c.(607-612)gagttg>gTtg	p.203_204EL>V	CAMTA2_uc002gag.2_In_Frame_Del_p.179_180EL>V|CAMTA2_uc002gah.2_In_Frame_Del_p.180_181EL>V|CAMTA2_uc002gai.2_In_Frame_Del_p.182_183EL>V|CAMTA2_uc010ckv.1_5'Flank|CAMTA2_uc010vsu.2_5'UTR	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	180					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TGTCCCAACAACTCCTCCCGGGA	0.601													-	4885000	CTC	-	4884998	7	5	98	1	0	1	0	1	0	0	0	0	2614	564	20	0	3186	0	CAMTA2	17	4884998	In_Frame_Del	DEL	CTC	TCGA-BR-8591-01A-11D-2394-08	199174	4884998	76310212	1373	65703											
GPR172B	55065	broad.mit.edu	37	chr17	4937492	4937492	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggggccacgtggtgccacaGaggggccagcagggctgtgc	19	11	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:4937492G>T	uc002gap.3	-	3	1005	c.292C>A	c.(292-294)CTG>ATG	p.L98M	GPR172B_uc002gao.3_Missense_Mutation_p.L98M|GPR172B_uc010ckw.2_Translation_Start_Site|GPR172B_uc010ckx.2_Missense_Mutation_p.L98M	NM_001104577	NP_001098047	Q9NWF4	RFT_HUMAN	G protein-coupled receptor 172B precursor	98	Helical; (Potential).					integral to plasma membrane	receptor activity|riboflavin transporter activity				0						TGGTGCCACAGAGGGGCCAGC	0.642													T	4937492	G	T	4937492	3	4	98	1	0	0	0	0	1	0	0	0	6670	933	33	5	1066	5	GPR172B	17	4937492	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	52494	4937492	76257718	1374	65704											
ZNF594	84622	broad.mit.edu	37	chr17	5087385	5087385	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgggaagggagatgtctcAttgcatcctttaaagggctt	12	7	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:5087385A>G	uc010cla.1	-	2	323	c.167T>C	c.(166-168)ATG>ACG	p.M56T		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						GAGATGTCTCATTGCATCCTT	0.438													G	5087385	A	G	5087385	3	3	98	1	0	0	0	0	1	0	0	0	18021	217	8	3	2260	3	ZNF594	17	5087385	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	149893	5087385	76107825	1375	65705											
DVL2	1856	broad.mit.edu	37	chr17	7130487	7130487	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatcttgttgacggtgtgtcGgatcaggcctgctttgagca	14	8	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:7130487G>T	uc002gez.1	-	13	1747	c.1465C>A	c.(1465-1467)CGA>AGA	p.R489R	DVL2_uc010vtr.1_Silent_p.R483R	NM_004422	NP_004413	O14641	DVL2_HUMAN	dishevelled 2	489	DEP.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			lung(1)|kidney(1)	2						ACGGTGTGTCGGATCAGGCCT	0.592													T	7130487	G	T	7130487	2	4	98	1	0	0	0	0	0	0	0	1	4836	1124	39	5		5	DVL2	17	7130487	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2043102	7130487	74064723	1376	65706											
SPEM1	374768	broad.mit.edu	37	chr17	7324902	7324902	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaagcaagaattgggtgtAccgttccctaactgggaggt	13	8	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:7324902A>G	uc002ggv.2	+	3	933	c.908A>G	c.(907-909)TAC>TGC	p.Y303C	FGF11_uc010vtw.1_Missense_Mutation_p.Y37C	NM_199339	NP_955371	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	303					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane					0		Prostate(122;0.173)				AATTGGGTGTACCGTTCCCTA	0.592													G	7324902	A	G	7324902	3	3	98	1	0	0	0	0	1	0	0	0	15036	391	14	3	918	3	SPEM1	17	7324902	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	194415	7324902	73870308	1377	65707											
POLR2A	5430	broad.mit.edu	37	chr17	7416391	7416391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacctgcctacgagccccGctctcctgggggctacacac	10	18	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:7416391G>A	uc002ghf.3	+	29	5042	c.4808G>A	c.(4807-4809)CGC>CAC	p.R1603H		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	1603	2; approximate.|52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)				TACGAGCCCCGCTCTCCTGGG	0.582													A	7416391	G	A	7416391	3	1	98	1	0	0	0	0	1	0	0	0	12214	1087	38	1	4922	1	POLR2A	17	7416391	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	91489	7416391	73778819	1378	65708											
SENP3	26168	broad.mit.edu	37	chr17	7473797	7473797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcgcagcgtaccctaaacCgccgctgccctaaggtttga	9	15	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:7473797C>T	uc002ghm.2	+	9	1738	c.1465C>T	c.(1465-1467)CGC>TGC	p.R489C	EIF4A1_uc002gho.1_5'UTR|EIF4A1_uc002ghr.1_5'Flank|EIF4A1_uc002ghq.1_5'Flank|EIF4A1_uc002ghp.1_5'Flank	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific protease 3	489	Protease.				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			ovary(1)|central_nervous_system(1)	2		Prostate(122;0.157)				TACCCTAAACCGCCGCTGCCC	0.562													T	7473797	C	T	7473797	3	4	98	1	0	0	0	0	1	0	0	0	14048	652	23	1	1492	1	SENP3	17	7473797	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	57406	7473797	73721413	1379	65709											
C17orf68	80169	broad.mit.edu	37	chr17	8133224	8133224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacctgatggtggtctcaGggggaaaactcaggacctgc	14	10	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:8133224G>A	uc002gkq.3	-	18	3055	c.2996C>T	c.(2995-2997)CCT>CTT	p.P999L	C17orf68_uc010cnv.2_RNA	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	alpha accessory factor 132	999					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding				0						GGTGGTCTCAGGGGGAAAACT	0.498													A	8133224	G	A	8133224	3	1	98	1	0	0	0	0	1	0	0	0	1876	1000	35	4	681	4	C17orf68	17	8133224	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	659427	8133224	73061986	1380	65710											
MYH10	4628	broad.mit.edu	37	chr17	8396272	8396272	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccgcgtccttcagaagcTtcttcttggcttcttccaga	7	15	4	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:8396272T>C	uc002gll.2	-	31	4283	c.4187A>G	c.(4186-4188)AAG>AGG	p.K1396R	MYH10_uc002glm.2_Missense_Mutation_p.K1427R|MYH10_uc010cnx.2_Missense_Mutation_p.K1405R	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1396	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						CTTCAGAAGCTTCTTCTTGGC	0.522													C	8396272	T	C	8396272	3	2	98	1	0	0	0	0	1	0	0	0	10030	1609	56	3	1787	3	MYH10	17	8396272	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	263048	8396272	72798938	1381	65711											
MFSD6L	162387	broad.mit.edu	37	chr17	8701551	8701551	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgccacacacgcctgcCgacatgcccagcaacctcca	8	18	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:8701551C>T	uc002glp.1	-	1	1036	c.888G>A	c.(886-888)TCG>TCA	p.S296S		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing	296	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1						ACACGCCTGCCGACATGCCCA	0.587													T	8701551	C	T	8701551	2	4	98	1	0	0	0	0	0	0	0	1	9536	639	23	1		1	MFSD6L	17	8701551	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	305279	8701551	72493659	1382	65712											
USP43	124739	broad.mit.edu	37	chr17	9604465	9604465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcctccaggaggagcgagCgcaggatgccgacagtgtgt	17	10	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:9604465C>T	uc010cod.2	+	11	1565	c.1565C>T	c.(1564-1566)GCG>GTG	p.A522V	USP43_uc002gma.3_Missense_Mutation_p.A211V|USP43_uc010vva.1_Missense_Mutation_p.A522V|USP43_uc010coe.2_Missense_Mutation_p.A319V|USP43_uc002gmc.3_5'UTR	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	522					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GAGGAGCGAGCGCAGGATGCC	0.582													T	9604465	C	T	9604465	3	4	98	1	0	0	0	0	1	0	0	0	17071	768	27	1	1607	1	USP43	17	9604465	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	902914	9604465	71590745	1383	65713											
MYH1	4619	broad.mit.edu	37	chr17	10404029	10404029	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttggtcttaatttcactcAgttgatcttctagagcgcgg	9	10	5	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:10404029A>C	uc002gmo.2	-	28	3873	c.3779T>G	c.(3778-3780)CTG>CGG	p.L1260R	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1260	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						AATTTCACTCAGTTGATCTTC	0.478													C	10404029	A	C	10404029	3	2	98	1	0	0	0	0	1	0	0	0	10029	188	7	5	2092	5	MYH1	17	10404029	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	799564	10404029	70791181	1384	65714											
DNAH9	1770	broad.mit.edu	37	chr17	11656223	11656223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtggattttactggatggCgacatagatccaatgtggat	12	5	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:11656223C>T	uc002gne.2	+	33	6752	c.6684C>T	c.(6682-6684)GGC>GGT	p.G2228G	DNAH9_uc010coo.2_Silent_p.G1522G	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2228	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TACTGGATGGCGACATAGATC	0.433													T	11656223	C	T	11656223	2	4	98	1	0	0	0	0	0	0	0	1	4608	755	27	1		1	DNAH9	17	11656223	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1252194	11656223	69538987	1385	65715											
MYOCD	93649	broad.mit.edu	37	chr17	12647672	12647672	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaacagcagctgttccTgcagctccaaatcctcagcc	7	17	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:12647672T>G	uc002gnn.2	+	8	1189	c.890T>G	c.(889-891)CTG>CGG	p.L297R	MYOCD_uc002gno.2_Missense_Mutation_p.L297R|MYOCD_uc002gnp.1_Missense_Mutation_p.L201R|MYOCD_uc002gnq.2_Missense_Mutation_p.L16R	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	297	Gln-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAGCTGTTCCTGCAGCTCCAA	0.493													G	12647672	T	G	12647672	3	3	98	1	0	0	0	0	1	0	0	0	10087	1580	55	5	920	5	MYOCD	17	12647672	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	991449	12647672	68547538	1386	65716											
COX10	1352	broad.mit.edu	37	chr17	13977692	13977692	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaagaactatacaggactcCcctcacaagttcttacatct	5	12	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:13977692C>A	uc002gof.3	+	2	300	c.96C>A	c.(94-96)TCC>TCA	p.S32S	COX10_uc010vvs.1_5'UTR|COX10_uc010vvt.1_5'UTR	NM_001303	NP_001294	Q12887	COX10_HUMAN	heme A:farnesyltransferase precursor	32					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity				0		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TACAGGACTCCCCTCACAAGT	0.398													A	13977692	C	A	13977692	2	1	98	1	0	0	0	0	0	0	0	1	3762	610	22	5		5	COX10	17	13977692	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1330020	13977692	67217518	1387	65717											
TEKT3	64518	broad.mit.edu	37	chr17	15207323	15207323	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgcatttttcctggtcgAtgtacagggaattggctttg	11	7	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:15207323A>G	uc002gon.2	-	9	1590	c.1403T>C	c.(1402-1404)ATC>ACC	p.I468T		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	tektin 3	468					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TTCCTGGTCGATGTACAGGGA	0.582													G	15207323	A	G	15207323	3	3	98	1	0	0	0	0	1	0	0	0	15751	333	12	3	73	3	TEKT3	17	15207323	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1229631	15207323	65987887	1388	65718											
CDRT1	374286	broad.mit.edu	37	chr17	15522766	15522766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccggcatagagggatggaatCggttcccttctcacaacgaa	11	11	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:15522766C>T	uc002gov.3	-	1	253	c.61G>A	c.(61-63)GAT>AAT	p.D21N	TRIM16_uc002gor.1_Intron	NM_006382	NP_006373	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	21											0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GGGATGGAATCGGTTCCCTTC	0.473													T	15522766	C	T	15522766	3	4	98	1	0	0	0	0	1	0	0	0	3174	884	31	1	2245	1	CDRT1	17	15522766	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	315443	15522766	65672444	1389	65719											
NCOR1	9611	broad.mit.edu	37	chr17	15942757	15942757	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagctgtacctgaatgaggTgatgggtccccttcctctct	10	11	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:15942757T>C	uc002gpo.2	-	44	7185	c.6945A>G	c.(6943-6945)TCA>TCG	p.S2315S	NCOR1_uc002gpn.2_Silent_p.S2212S|NCOR1_uc002gpl.2_Silent_p.S330S|NCOR1_uc002gpm.2_Silent_p.S835S|NCOR1_uc010vwb.1_Silent_p.S899S|NCOR1_uc010coy.2_Silent_p.S1223S	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	2315	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTGAATGAGGTGATGGGTCCC	0.463													C	15942757	T	C	15942757	2	2	98	1	0	0	0	0	0	0	0	1	10235	1683	59	3		3	NCOR1	17	15942757	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	419991	15942757	65252453	1390	65720											
NCOR1	9611	broad.mit.edu	37	chr17	15973538	15973538	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtgttttgataactcacaGgggtcctccgtgcactggtg	13	9	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:15973538G>T	uc002gpo.2	-	31	4694	c.4454C>A	c.(4453-4455)CCT>CAT	p.P1485H	NCOR1_uc002gpn.2_Missense_Mutation_p.P1501H|NCOR1_uc002gpp.1_Missense_Mutation_p.P1392H|NCOR1_uc002gpm.2_5'Flank|NCOR1_uc010vwb.1_Missense_Mutation_p.P69H|NCOR1_uc010coy.2_Missense_Mutation_p.P393H|NCOR1_uc010vwc.1_Missense_Mutation_p.P296H	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1485	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATAACTCACAGGGGTCCTCCG	0.478													T	15973538	G	T	15973538	3	4	98	1	0	0	0	0	1	0	0	0	10235	1000	35	5	2932	5	NCOR1	17	15973538	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	30781	15973538	65221672	1391	65721											
TRPV2	51393	broad.mit.edu	37	chr17	16327046	16327046	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaacctgcaggatctcacgCctctgaagctggccgccaag	11	15	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:16327046C>A	uc002gpy.2	+	5	1256	c.889C>A	c.(889-891)CCT>ACT	p.P297T	TRPV2_uc002gpz.2_Intron	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	297	Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 6.				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GGATCTCACGCCTCTGAAGCT	0.602													A	16327046	C	A	16327046	3	1	98	1	0	0	0	0	1	0	0	0	16593	739	26	5	903	5	TRPV2	17	16327046	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	353508	16327046	64868164	1392	65722											
MPRIP	23164	broad.mit.edu	37	chr17	17075078	17075078	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggaagaaacgcaccagaAgaagattgaagatctccaga	10	7	1	7			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:17075078A>C	uc002gqu.1	+	16	2266	c.2210A>C	c.(2209-2211)AAG>ACG	p.K737T	MPRIP_uc002gqv.1_Missense_Mutation_p.K737T|MPRIP_uc002gqw.1_Missense_Mutation_p.K492T|MPRIP_uc002gqx.1_Missense_Mutation_p.K966T|MPRIP_uc002gqy.1_Missense_Mutation_p.K966T|MPRIP_uc010cpl.1_5'Flank|MPRIP_uc010cpm.1_5'Flank	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	737	Interaction with RHOA.|Potential.					cytoplasm|cytoskeleton	actin binding				0						ACGCACCAGAAGAAGATTGAA	0.527													C	17075078	A	C	17075078	3	2	98	1	0	0	0	0	1	0	0	0	9743	72	3	5	2272	5	MPRIP	17	17075078	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	748032	17075078	64120132	1393	65723											
RAI1	10743	broad.mit.edu	37	chr17	17697887	17697887	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggcagccctgccagggTcaacagcaactcgaaggcca	12	15	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:17697887T>C	uc002grm.2	+	3	2094	c.1625T>C	c.(1624-1626)GTC>GCC	p.V542A	RAI1_uc002grn.1_Missense_Mutation_p.V542A	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	542						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CCTGCCAGGGTCAACAGCAAC	0.627													C	17697887	T	C	17697887	3	2	98	1	0	0	0	0	1	0	0	0	13007	1667	58	3	1627	3	RAI1	17	17697887	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	622809	17697887	63497323	1394	65724											
MYO15A	51168	broad.mit.edu	37	chr17	18077133	18077133	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccctgaaggagatccagtcGacgcggacccagcggcccac	12	17	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:18077133G>A	uc010vxh.1	+	64	10727	c.10389G>A	c.(10387-10389)TCG>TCA	p.S3463S	MYO15A_uc010vxi.1_Silent_p.S727S|MYO15A_uc002gsl.2_Missense_Mutation_p.D496N|MYO15A_uc010vxm.1_Intron|MYO15A_uc010cpv.2_Intron	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	3463	Tail.|FERM.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					AGATCCAGTCGACGCGGACCC	0.637													A	18077133	G	A	18077133	2	1	98	1	0	0	0	0	0	0	0	1	10063	1045	37	1		1	MYO15A	17	18077133	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	379246	18077133	63118077	1395	65725											
LLGL1	3996	broad.mit.edu	37	chr17	18140983	18140983	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcctgccgccagctgcTgtaaccgctgtcacactcca	9	17	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:18140983T>A	uc002gsp.2	+	14	1861	c.1800T>A	c.(1798-1800)GCT>GCA	p.A600A		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	600					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)					CGCCAGCTGCTGTAACCGCTG	0.667													A	18140983	T	A	18140983	2	1	98	1	0	0	0	0	0	0	0	1	8833	1567	55	5		5	LLGL1	17	18140983	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	63850	18140983	63054227	1396	65726											
FLII	2314	broad.mit.edu	37	chr17	18151054	18151054	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacagctcctgacccagctTgagggcggcagcgcgcacca	13	16	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:18151054T>C	uc002gsr.1	-	20	2455	c.2404A>G	c.(2404-2406)AAG>GAG	p.K802E	FLII_uc002gsq.1_Missense_Mutation_p.K673E|FLII_uc010cpy.1_Missense_Mutation_p.K791E|FLII_uc010vxn.1_Missense_Mutation_p.K771E|FLII_uc010vxo.1_Missense_Mutation_p.K747E|FLII_uc002gss.1_Missense_Mutation_p.K801E	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	802	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)					TGACCCAGCTTGAGGGCGGCA	0.687													C	18151054	T	C	18151054	3	2	98	1	0	0	0	0	1	0	0	0	5925	1821	63	3	1449	3	FLII	17	18151054	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	10071	18151054	63044156	1397	65727											
FLII	2314	broad.mit.edu	37	chr17	18157847	18157847	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccaccggagctgtgcaTgcagcagggggtttccattg	15	12	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:18157847T>C	uc002gsr.1	-	6	614	c.563A>G	c.(562-564)CAT>CGT	p.H188R	FLII_uc002gsq.1_Missense_Mutation_p.H60R|FLII_uc010cpy.1_Missense_Mutation_p.H177R|FLII_uc010vxn.1_Missense_Mutation_p.H157R|FLII_uc010vxo.1_Intron|FLII_uc002gss.1_Missense_Mutation_p.H188R|uc010vxp.1_5'Flank	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	188	Interaction with LRRFIP1 and LRRFIP2.|LRR 8.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)					GAGCTGTGCATGCAGCAGGGG	0.677													C	18157847	T	C	18157847	3	2	98	1	0	0	0	0	1	0	0	0	5925	1464	51	3	3346	3	FLII	17	18157847	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	6793	18157847	63037363	1398	65728											
SLC5A10	125206	broad.mit.edu	37	chr17	18874389	18874389	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcccaggccattccctccaGgaccattgccaacaccacct	6	20	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:18874389G>T	uc002guu.1	+	8	745	c.704G>T	c.(703-705)AGG>ATG	p.R235M	SLC5A10_uc002gur.1_Missense_Mutation_p.R152M|SLC5A10_uc002gut.1_Missense_Mutation_p.R235M|SLC5A10_uc002guv.1_Missense_Mutation_p.R208M|SLC5A10_uc010vyl.1_Missense_Mutation_p.R235M|FAM83G_uc002guw.2_3'UTR	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/glucose	235	Extracellular (Potential).				sodium ion transport|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1						ATTCCCTCCAGGACCATTGCC	0.617													T	18874389	G	T	18874389	3	4	98	1	0	0	0	0	1	0	0	0	14662	1000	35	5	734	5	SLC5A10	17	18874389	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	716542	18874389	62320821	1399	65729											
ULK2	9706	broad.mit.edu	37	chr17	19729453	19729453	+	Splice_Site	DEL	T	T	-													acaaaaaatggatactcacaTttttttactggaccttgctc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:19729452_19729452AT>A	uc002gwm.4	-	11	1344	c.835_splice	c.e11+1	p.S279_splice	ULK2_uc002gwn.3_Splice_Site_p.S279_splice	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	279					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GGATACTCACATTTTTTTACT	0.294													-	19729453	T	-	19729453	8	5	98	1	0	1	0	1	0	0	1	0	16973	1507	52	0	2344	0	ULK2	17	19729453	Splice_Site	DEL	T	TCGA-BR-8591-01A-11D-2394-08	855064	19729453	61465757	1400	65730											
ULK2	9706	broad.mit.edu	37	chr17	19744820	19744821	+	Frame_Shift_Ins	INS	-	-	T													cctaggcattaagctcctgtINSttttttcataaaacatcctt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:19744819_19744820G>GT	uc002gwm.4	-	8	1195_1196	c.686_687C>AC	c.(685-687)aacfs	p.N229fs	ULK2_uc002gwn.3_Frame_Shift_Ins_p.N229fs	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	229	Protein kinase.				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TTAAGCTCCTGTTTTTTTCATA	0.307													T	19744821	-	T	19744820	7	5	98	1	0	1	1	0	0	0	0	0	16973	1725	60	0	2500	0	ULK2	17	19744820	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	15367	19744820	61450390	1401	65731											
MAP2K3	5606	broad.mit.edu	37	chr17	21202191	21202192	+	Splice_Site	INS	-	-	C													agtcttctttctccacagacINSccccccggaacctggactcc					rs33911218	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:21202190_21202191A>AC	uc002gys.3	+	3	382	c.117_splice	c.e3-1	p.T39_splice	MAP2K3_uc002gyt.3_Splice_Site_p.T10_splice|MAP2K3_uc021tsq.1_Splice_Site_p.T10_splice|MAP2K3_uc021tsr.1_Splice_Site_p.T10_splice	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	39					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TTCTCCACAGACCCCCCCGGAA	0.629													C	21202192	-	C	21202191	8	5	98	1	0	1	1	0	0	0	1	0	9238	521	18	0	128	0	MAP2K3	17	21202191	Splice_Site	INS	-	TCGA-BR-8591-01A-11D-2394-08	1457371	21202191	59993019	1402	65732											
TNFAIP1	7126	broad.mit.edu	37	chr17	26669397	26669397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctgctggtccttttatGgccagggccgtaagctggca	13	11	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:26669397G>A	uc002hax.1	+	6	662	c.643G>A	c.(643-645)GGC>AGC	p.G215S	TNFAIP1_uc002hay.2_Missense_Mutation_p.G215S|TNFAIP1_uc010waf.1_Missense_Mutation_p.G111S	NM_021137	NP_066960	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1	215					apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity				0	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GTCCTTTTATGGCCAGGGCCG	0.567													A	26669397	G	A	26669397	3	1	98	1	0	0	0	0	1	0	0	0	16269	1348	47	4	661	4	TNFAIP1	17	26669397	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	5467206	26669397	54525813	1403	65733											
RAB34	83871	broad.mit.edu	37	chr17	27042858	27042858	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcccagcacctcaaatcgttCcatctcgaagtccactccaa	5	17	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:27042858C>A	uc002hce.2	-	4	898	c.274G>T	c.(274-276)GAA>TAA	p.E92*	RAB34_uc002hcg.2_Nonsense_Mutation_p.E92*|RAB34_uc002hcf.2_Nonsense_Mutation_p.E93*|RAB34_uc010was.1_Nonsense_Mutation_p.E149*|RAB34_uc010wat.1_Nonsense_Mutation_p.E149*|RAB34_uc002hch.2_Nonsense_Mutation_p.E92*|RAB34_uc010wau.1_Nonsense_Mutation_p.E70*|RAB34_uc010wav.1_Nonsense_Mutation_p.E150*	NM_031934	NP_114140	Q9BZG1	RAB34_HUMAN	Ras-related protein RAB34 isoform 1	92					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding				0	Lung NSC(42;0.00431)					TCAAATCGTTCCATCTCGAAG	0.537													A	27042858	C	A	27042858	4	1	98	1	0	0	0	0	0	1	0	0	12924	864	30	5	597	5	RAB34	17	27042858	Nonsense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	373461	27042858	54152352	1404	65734											
TAOK1	57551	broad.mit.edu	37	chr17	27869900	27869900	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccaatgcaaggggtacctCgaggtagcagtatgggagtc	16	8	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:27869900C>T	uc002hdz.1	+	20	3060	c.2866C>T	c.(2866-2868)CGA>TGA	p.R956*	TAOK1_uc010wbe.1_Nonsense_Mutation_p.R808*|TAOK1_uc010wbf.1_Nonsense_Mutation_p.R956*	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	956					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)			AGGGGTACCTCGAGGTAGCAG	0.632													T	27869900	C	T	27869900	4	4	98	1	0	0	0	0	0	1	0	0	15544	876	31	1	2940	1	TAOK1	17	27869900	Nonsense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	827042	27869900	53325310	1405	65735											
SLFN11	91607	broad.mit.edu	37	chr17	33689788	33689788	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtcatcatgcctacccAtttctcggttgtcaggctgc	9	13	5	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:33689788A>G	uc010ctp.2	-	4	1481	c.1039T>C	c.(1039-1041)TGG>CGG	p.W347R	SLFN11_uc010ctq.2_Missense_Mutation_p.W347R|SLFN11_uc002hjh.3_Missense_Mutation_p.W347R|SLFN11_uc002hjg.3_Missense_Mutation_p.W347R|SLFN11_uc010ctr.2_Missense_Mutation_p.W347R	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	347						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGCCTACCCATTTCTCGGTT	0.483													G	33689788	A	G	33689788	3	3	98	1	0	0	0	0	1	0	0	0	14733	217	8	3	1682	3	SLFN11	17	33689788	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	5819888	33689788	47505422	1406	65736											
GAS2L2	246176	broad.mit.edu	37	chr17	34074093	34074093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctccccgttccctgcgggGtctgggggaggatggggtgg	20	10	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:34074093G>A	uc002hjv.1	-	5	1055	c.1027C>T	c.(1027-1029)CCC>TCC	p.P343S		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	343					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCCCTGCGGGGTCTGGGGGAG	0.627													A	34074093	G	A	34074093	3	1	98	1	0	0	0	0	1	0	0	0	6247	1261	44	4	1623	4	GAS2L2	17	34074093	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	384305	34074093	47121117	1407	65737											
RDM1	201299	broad.mit.edu	37	chr17	34251627	34251627	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctccaccttatccatAggctcctccaccaagccaat	3	19	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:34251627A>G	uc002hkh.2	-	4	598	c.549T>C	c.(547-549)CCT>CCC	p.P183P	RDM1_uc010cty.2_Intron|RDM1_uc010ctz.2_Intron|RDM1_uc010cua.2_Silent_p.P160P|RDM1_uc002hkg.3_Silent_p.P160P|RDM1_uc010cub.2_Intron|RDM1_uc010cud.2_Silent_p.P183P|RDM1_uc010cuf.2_Intron|RDM1_uc010cue.2_Intron|RDM1_uc010cug.2_Intron|RDM1_uc010cuc.2_Intron|RDM1_uc010wco.1_Intron|RDM1_uc010wcp.1_Silent_p.P160P|RDM1_uc002hki.2_Silent_p.P183P	NM_145654	NP_663629	Q8NG50	RDM1_HUMAN	RAD52 motif 1 isoform 1	183					DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CCTTATCCATAGGCTCCTCCA	0.478								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					G	34251627	A	G	34251627	2	3	98	1	0	0	0	0	0	0	0	1	13197	407	15	3		3	RDM1	17	34251627	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	177534	34251627	46943583	1408	65738											
LHX1	3975	broad.mit.edu	37	chr17	35300395	35300396	+	Frame_Shift_Ins	INS	-	-	C													acggaaaccacctgtcccacINSccccccgaaatgaacgaggc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:35300394_35300395A>AC	uc002hnh.2	+	4	1910_1911	c.1187_1188A>AC	c.(1186-1188)cacfs	p.H396fs		NM_005568	NP_005559	P48742	LHX1_HUMAN	Homo sapiens LIM homeobox 1 (LHX1), mRNA.	396					S-shaped body morphogenesis|cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.E399fs*>9(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CACCTGTCCCACCCCCCCGAAA	0.599													C	35300396	-	C	35300395	7	5	98	1	0	1	1	0	0	0	0	0	8770	506	18	0	1206	0	LHX1	17	35300395	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	1048768	35300395	45894815	1409	65739											
PCGF2	7703	broad.mit.edu	37	chr17	36896587	36896587	+	Frame_Shift_Del	DEL	C	C	-													gtggtggcgtcgatgaagtaCcccccgcagagggcacacat							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:36896586_36896586AC>A	uc002hqp.1	-	2	316	c.70_70GT>T	c.(70-72)tacfs	p.Y24fs		NM_007144	NP_009075	P35227	PCGF2_HUMAN	Homo sapiens polycomb group ring finger 2 (PCGF2), mRNA.	24					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					TCGATGAAGTACCCCCCGCAG	0.632													-	36896587	C	-	36896587	7	5	98	1	0	1	0	1	0	0	0	0	11575	494	18	0	1001	0	PCGF2	17	36896587	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	1596192	36896587	44298623	1410	65740											
CACNB1	782	broad.mit.edu	37	chr17	37341120	37341121	+	Splice_Site	INS	-	-	G													gggggcacatgctctgtctgINSgggggggaagcagggagggg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:37341119_37341120T>TG	uc002hrm.2	-	8	857	c.649_splice	c.e8-1	p.T217_splice	CACNB1_uc002hrl.1_Splice_Site|CACNB1_uc002hrn.3_Splice_Site_p.T217_splice|CACNB1_uc002hro.3_Splice_Site_p.T262_splice|CACNB1_uc002hrp.2_Intron	NM_000723	NP_000714	Q02641	CACB1_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA.	217				T -> S (in Ref. 3; AAA36167).	axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	ATGCTCTGTCTGGGGGGGGAAG	0.629													G	37341121	-	G	37341120	8	5	98	1	0	1	1	0	0	0	1	0	2552	1363	47	0		0	CACNB1	17	37341120	Splice_Site	INS	-	TCGA-BR-8591-01A-11D-2394-08	444533	37341120	43854090	1411	65741											
GSDMB	55876	broad.mit.edu	37	chr17	38066132	38066132	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accagatacaggttttctctCgtattaattgatcggaatga	8	7	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:38066132C>T	uc010cwj.2	-	3	458	c.453G>A	c.(451-453)ACG>ACA	p.T151T	GSDMB_uc010cwi.2_5'Flank|GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_Intron|GSDMB_uc002htg.2_Silent_p.T151T|GSDMB_uc002hth.2_Silent_p.T151T|GSDMB_uc010wem.1_Silent_p.T151T	NM_001042471	NP_001035936	Q8TAX9	GSDMB_HUMAN	gasdermin B isoform 1	151						cytoplasm				breast(1)|pancreas(1)	2						GGTTTTCTCTCGTATTAATTG	0.468													T	38066132	C	T	38066132	2	4	98	1	0	0	0	0	0	0	0	1	6817	871	31	1		1	GSDMB	17	38066132	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	725012	38066132	43129078	1412	65742											
PSMD3	5709	broad.mit.edu	37	chr17	38146397	38146397	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaggcccggagaacgatgAccaacgcccttcgcaaggcc	12	15	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:38146397A>G	uc002htn.1	+	6	1092	c.928A>G	c.(928-930)ACC>GCC	p.T310A	PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Missense_Mutation_p.T211A	NM_002809	NP_002800	O43242	PSMD3_HUMAN	proteasome 26S non-ATPase subunit 3	310					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			ovary(1)|pancreas(1)	2	Colorectal(19;0.000442)					GAGAACGATGACCAACGCCCT	0.527													G	38146397	A	G	38146397	3	3	98	1	0	0	0	0	1	0	0	0	12699	275	10	3	950	3	PSMD3	17	38146397	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	80265	38146397	43048813	1413	65743											
CASC3	22794	broad.mit.edu	37	chr17	38324130	38324130	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagggaccaatctatacccAtggtgacagccctgccccgc	9	17	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:38324130A>G	uc010cwt.1	+	10	1974	c.1679A>G	c.(1678-1680)CAT>CGT	p.H560R	CASC3_uc002hue.2_Missense_Mutation_p.H560R	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	560	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						ATCTATACCCATGGTGACAGC	0.517													G	38324130	A	G	38324130	3	3	98	1	0	0	0	0	1	0	0	0	2661	217	8	3	1717	3	CASC3	17	38324130	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	177733	38324130	42871080	1414	65744											
KRT10	3858	broad.mit.edu	37	chr17	38978389	38978389	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtcattcagattctgcAtggttactttttcatttcca	8	9	4	1	rs58901407		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:38978389A>G	uc002hvi.2	-	1	475	c.449T>C	c.(448-450)ATG>ACG	p.M150T	KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	keratin 10	150	Coil 1A.|Rod.|Gly-rich.		M -> T (in a patient with epidermal nevi hyperkeratotic type due to genetic mosaicism).		epidermis development		protein binding|structural constituent of epidermis				0		Breast(137;0.000301)				CAGATTCTGCATGGTTACTTT	0.368													G	38978389	A	G	38978389	3	3	98	1	0	0	0	0	1	0	0	0	8448	217	8	3	1337	3	KRT10	17	38978389	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	654259	38978389	42216821	1415	65745											
KRT33B	3884	broad.mit.edu	37	chr17	39520151	39520151	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacaaggattggtgacacaGgatccaatgggcttttcaca	10	10	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:39520151G>T	uc002hwl.2	-	7	1197	c.1152C>A	c.(1150-1152)TCC>TCA	p.S384S		NM_002279	NP_002270	Q14525	KT33B_HUMAN	type I hair keratin 3B	384	Tail.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)				TGGTGACACAGGATCCAATGG	0.542													T	39520151	G	T	39520151	2	4	98	1	0	0	0	0	0	0	0	1	8470	987	35	5		5	KRT33B	17	39520151	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	541762	39520151	41675059	1416	65746											
KRT16	3868	broad.mit.edu	37	chr17	39767417	39767417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgcggctcaggtccacGccaggtgcagcatccatctc	12	14	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:39767417G>A	uc002hxg.3	-	4	976	c.837C>T	c.(835-837)GGC>GGT	p.G279G	JUP_uc010wfs.1_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	279	Linker 12.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			skin(1)	1		Breast(137;0.000307)				TCAGGTCCACGCCAGGTGCAG	0.587													A	39767417	G	A	39767417	2	1	98	1	0	0	0	0	0	0	0	1	8453	1074	38	1		1	KRT16	17	39767417	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	247266	39767417	41427793	1417	65747											
TTC25	83538	broad.mit.edu	37	chr17	40093140	40093140	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttctgggggagctctaCgtggacaaagagtatttgga	14	7	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:40093140C>T	uc002hyj.3	+	5	674	c.585C>T	c.(583-585)TAC>TAT	p.Y195Y	TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Silent_p.Y195Y	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25	195						cytoplasm	protein binding			ovary(1)	1		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				GGGAGCTCTACGTGGACAAAG	0.542													T	40093140	C	T	40093140	2	4	98	1	0	0	0	0	0	0	0	1	16690	547	19	1		1	TTC25	17	40093140	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	325723	40093140	41102070	1418	65748											
PLEKHH3	79990	broad.mit.edu	37	chr17	40828492	40828492	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcctcgtccccgtccccGctaagctcgccgtccccgta	8	21	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:40828492G>A	uc002iau.2	-	1	557	c.90C>T	c.(88-90)AGC>AGT	p.S30S	PLEKHH3_uc002iat.1_5'Flank|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_5'UTR|PLEKHH3_uc002iaw.2_Silent_p.S30S	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H	30					signal transduction	cytoskeleton				large_intestine(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CCCCGTCCCCGCTAAGCTCGC	0.687													A	40828492	G	A	40828492	2	1	98	1	0	0	0	0	0	0	0	1	12078	1078	38	1		1	PLEKHH3	17	40828492	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	735352	40828492	40366718	1419	65749											
CNTNAP1	8506	broad.mit.edu	37	chr17	40839807	40839807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggaggccctcacaacttcGttcaagtgcccggtttccca	9	15	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:40839807G>A	uc002iay.2	+	8	1330	c.1114G>A	c.(1114-1116)GTT>ATT	p.V372I	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	372	Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TCACAACTTCGTTCAAGTGCC	0.602													A	40839807	G	A	40839807	3	1	98	1	0	0	0	0	1	0	0	0	3646	1145	40	1	1144	1	CNTNAP1	17	40839807	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	11315	40839807	40355403	1420	65750											
BRCA1	672	broad.mit.edu	37	chr17	41226527	41226527	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catctaatgatgggcatttaGaaggggatgacctagaaaga	12	5	1	5			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:41226527G>A	uc002icq.2	-	14	4728	c.4496C>T	c.(4495-4497)TCT>TTT	p.S1499F	BRCA1_uc010whp.1_Missense_Mutation_p.S348F|BRCA1_uc010whl.1_Missense_Mutation_p.S395F|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.S1428F|BRCA1_uc002icu.2_Missense_Mutation_p.S395F|BRCA1_uc010cyx.2_Missense_Mutation_p.S1452F|BRCA1_uc002ict.2_Missense_Mutation_p.S1520F|BRCA1_uc010whn.1_5'UTR|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Missense_Mutation_p.S228F|BRCA1_uc002idc.1_Missense_Mutation_p.S395F|BRCA1_uc010whr.1_Missense_Mutation_p.S349F	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	1499					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGGCATTTAGAAGGGGATGA	0.423			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			A	41226527	G	A	41226527	3	1	98	1	0	0	0	0	1	0	0	0	1498	942	33	4	1135	4	BRCA1	17	41226527	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	386720	41226527	39968683	1421	65751											
NBR1	4077	broad.mit.edu	37	chr17	41345126	41345126	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggctccctttgcagccCtgtacctccgttatgccaat	7	15	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:41345126C>A	uc010czd.2	+	11	1229	c.1089C>A	c.(1087-1089)CCC>CCA	p.P363P	NBR1_uc010diz.2_Silent_p.P363P|NBR1_uc010whu.1_Silent_p.P363P|NBR1_uc010whv.1_Silent_p.P363P|NBR1_uc010whw.1_Silent_p.P342P|NBR1_uc010whx.1_Silent_p.P172P	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	363					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CTTTGCAGCCCTGTACCTCCG	0.478													A	41345126	C	A	41345126	2	1	98	1	0	0	0	0	0	0	0	1	10200	668	24	5		5	NBR1	17	41345126	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	118599	41345126	39850084	1422	65752											
HDAC5	10014	broad.mit.edu	37	chr17	42160038	42160038	+	Frame_Shift_Del	DEL	C	C	-													cagagttgaagaagcagaatCccctgaggaggggagaaaag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:42160038delC	uc002ifd.1	-	20	2733	c.2522delG	c.(2521-2523)GGAfs	p.G841fs	HDAC5_uc002ife.1_Frame_Shift_Del_p.G841fs|HDAC5_uc002iff.1_Frame_Shift_Del_p.G842fs|HDAC5_uc010czp.1_Frame_Shift_Del_p.G756fs|HDAC5_uc002ifg.1_Frame_Shift_Del_p.G151fs|HDAC5_uc002ifh.2_Frame_Shift_Del_p.G841fs	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	841	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GAAGCAGAATCCCCTGAGGAG	0.557													-	42160038	C	-	42160038	7	5	98	1	0	1	0	1	0	0	0	0	7010	855	30	0	878	0	HDAC5	17	42160038	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	814912	42160038	39035172	1423	65753											
SLC25A39	51629	broad.mit.edu	37	chr17	42397453	42397453	+	Frame_Shift_Del	DEL	G	G	-													ctgatcatgatggcacaggaGggggcagccttgatgatccg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:42397452_42397452AG>A	uc002ign.2	-	11	1151	c.997_997CT>T	c.(997-999)tccfs	p.S333fs	SLC25A39_uc002igm.2_Frame_Shift_Del_p.S325fs|SLC25A39_uc010wiw.1_Frame_Shift_Del_p.S310fs	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	Homo sapiens solute carrier family 25, member 39 (SLC25A39), transcript variant 1, mRNA.	333					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ATGGCACAGGAGGGGGCAGCC	0.622													-	42397453	G	-	42397453	7	5	98	1	0	1	0	1	0	0	0	0	14503	987	35	0	87	0	SLC25A39	17	42397453	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	237415	42397453	38797757	1424	65754											
DBF4B	80174	broad.mit.edu	37	chr17	42811492	42811492	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaacagctgtctcttgcGtctttatgtgtgaaaaaaca	9	8	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:42811492G>A	uc002ihf.2	+	7	804	c.591G>A	c.(589-591)GCG>GCA	p.A197A	DBF4B_uc010wjb.1_RNA|DBF4B_uc002ihe.2_Silent_p.A11A|DBF4B_uc010wjc.1_Silent_p.A181A	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B isoform 1	197					cell cycle	nucleus	nucleic acid binding|zinc ion binding				0		Prostate(33;0.0322)				TGTCTCTTGCGTCTTTATGTG	0.458													A	42811492	G	A	42811492	2	1	98	1	0	0	0	0	0	0	0	1	4249	1132	40	1		1	DBF4B	17	42811492	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	414039	42811492	38383718	1425	65755											
CRHR1	1394	broad.mit.edu	37	chr17	43907871	43907871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagggctgctacctgcacaCagccatcgtgctcacctact	9	16	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:43907871C>T	uc010dap.2	+	8	996	c.731C>T	c.(730-732)ACA>ATA	p.T244I	CRHR1_uc010wjx.1_Missense_Mutation_p.T40I|CRHR1_uc002ijp.2_Missense_Mutation_p.T114I|CRHR1_uc002ijm.2_Missense_Mutation_p.T215I|CRHR1_uc002ijn.2_Missense_Mutation_p.T175I|CRHR1_uc010dar.2_Missense_Mutation_p.T215I|CRHR1_uc010dao.2_Missense_Mutation_p.T114I|CRHR1_uc010daq.2_Missense_Mutation_p.T40I	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	244	Cytoplasmic (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(3)	3	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TACCTGCACACAGCCATCGTG	0.607													T	43907871	C	T	43907871	3	4	98	1	0	0	0	0	1	0	0	0	3871	478	17	4	761	4	CRHR1	17	43907871	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1096379	43907871	37287339	1426	65756											
KIAA1267	284058	broad.mit.edu	37	chr17	44249250	44249250	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttgagggaacagatgttAcatcagagcagagataagat	11	6	1	5			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:44249250A>G	uc002ikb.2	-	1	345	c.260T>C	c.(259-261)GTA>GCA	p.V87A	KIAA1267_uc002ikc.2_Missense_Mutation_p.V87A|KIAA1267_uc002ikd.2_Missense_Mutation_p.V87A|KIAA1267_uc010dav.2_Missense_Mutation_p.V87A	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	87						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				AACAGATGTTACATCAGAGCA	0.458													G	44249250	A	G	44249250	3	3	98	1	0	0	0	0	1	0	0	0	8219	391	14	3	3113	3	KIAA1267	17	44249250	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	341379	44249250	36945960	1427	65757											
IGF2BP1	10642	broad.mit.edu	37	chr17	47123659	47123659	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgacggcagctgaggtggTagtaccaagagaccagaccc	13	10	0	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:47123659T>C	uc002iom.2	+	14	1899	c.1565T>C	c.(1564-1566)GTA>GCA	p.V522A	IGF2BP1_uc010dbj.2_Missense_Mutation_p.V383A	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	522	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).|KH 4.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						GCTGAGGTGGTAGTACCAAGA	0.542													C	47123659	T	C	47123659	3	2	98	1	0	0	0	0	1	0	0	0	7573	1638	57	3	1619	3	IGF2BP1	17	47123659	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	2874409	47123659	34071551	1428	65758											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602													-	48433967	C	-	48433967	7	5	98	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	1310308	48433967	32761243	1429	65759											
ABCC3	8714	broad.mit.edu	37	chr17	48750362	48750362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgggggccagcggcagCgggtcagtctggctcgagct	18	11	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:48750362C>T	uc002isl.2	+	18	2352	c.2272C>T	c.(2272-2274)CGG>TGG	p.R758W		NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	758	ABC transporter 1.|Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCAGCGGCAGCGGGTCAGTCT	0.587													T	48750362	C	T	48750362	3	4	98	1	0	0	0	0	1	0	0	0	54	759	27	1	2426	1	ABCC3	17	48750362	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	316395	48750362	32444848	1430	65760											
AKAP1	8165	broad.mit.edu	37	chr17	55189188	55189188	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcggctaattggcaagcaGgggcgctatgtgagttttct	15	7	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:55189188G>A	uc002iux.2	+	4	2109	c.1878G>A	c.(1876-1878)CAG>CAA	p.Q626Q	AKAP1_uc010wnl.1_Silent_p.Q626Q|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Silent_p.Q626Q	NM_003488	NP_003479	Q92667	AKAP1_HUMAN	A-kinase anchor protein 1 precursor	626	KH.				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			ovary(1)	1	Breast(9;5.46e-08)					TTGGCAAGCAGGGGCGCTATG	0.483													A	55189188	G	A	55189188	2	1	98	1	0	0	0	0	0	0	0	1	445	991	35	4		4	AKAP1	17	55189188	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	6438826	55189188	26006022	1431	65761											
LPO	4025	broad.mit.edu	37	chr17	56344853	56344853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcgacatctggatagggGccattgctgagccgctggtg	14	10	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:56344853G>A	uc002ivt.2	+	12	2153	c.1837G>A	c.(1837-1839)GCC>ACC	p.A613T	LPO_uc010wns.1_Missense_Mutation_p.A554T|LPO_uc010dcp.2_Missense_Mutation_p.A530T|LPO_uc010dcq.2_Missense_Mutation_p.A284T|LPO_uc010dcr.2_Missense_Mutation_p.A176T	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	613					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2						CTGGATAGGGGCCATTGCTGA	0.577													A	56344853	G	A	56344853	3	1	98	1	0	0	0	0	1	0	0	0	8922	1203	42	2	1879	2	LPO	17	56344853	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1155665	56344853	24850357	1432	65762											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	98	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	90308	56435161	24760049	1433	65763											
C17orf71	55181	broad.mit.edu	37	chr17	57289053	57289053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccagcatttcacaaataCgccatgcagttacatgagga	9	10	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:57289053C>T	uc002ixi.2	+	1	1683	c.1641C>T	c.(1639-1641)TAC>TAT	p.Y547Y		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	547					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TTCACAAATACGCCATGCAGT	0.438													T	57289053	C	T	57289053	2	4	98	1	0	0	0	0	0	0	0	1	1878	547	19	1		1	C17orf71	17	57289053	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	853892	57289053	23906157	1434	65764											
RNFT1	51136	broad.mit.edu	37	chr17	58040355	58040355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcactgtgggagtgacccCgtaagcgactgtgtacacat	11	11	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:58040355C>T	uc002iya.2	-	2	440	c.347G>A	c.(346-348)CGG>CAG	p.R116Q	uc002iye.1_5'Flank|RNFT1_uc002iyb.2_RNA|RNFT1_uc002iyc.2_5'UTR|RNFT1_uc010wop.1_Missense_Mutation_p.R116Q|RNFT1_uc002iyd.3_Missense_Mutation_p.R116Q	NM_016125	NP_057209	Q5M7Z0	RNFT1_HUMAN	PTD016 protein	116						integral to membrane	zinc ion binding				0	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			GGAGTGACCCCGTAAGCGACT	0.468													T	58040355	C	T	58040355	3	4	98	1	0	0	0	0	1	0	0	0	13501	652	23	1	992	1	RNFT1	17	58040355	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	751302	58040355	23154855	1435	65765											
USP32	84669	broad.mit.edu	37	chr17	58259002	58259002	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgctgccaatctggggcaGccggagcctccctttgctcc	11	15	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:58259002G>A	uc002iyo.1	-	32	4517	c.4231C>T	c.(4231-4233)CTG>TTG	p.L1411L	USP32_uc002iyn.1_Silent_p.L1081L	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	1411					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATCTGGGGCAGCCGGAGCCTC	0.512													A	58259002	G	A	58259002	2	1	98	1	0	0	0	0	0	0	0	1	17060	962	34	2		2	USP32	17	58259002	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	218647	58259002	22936208	1436	65766											
APPBP2	10513	broad.mit.edu	37	chr17	58541474	58541474	+	Splice_Site	DEL	A	A	-													gatgcaccatttgtatgcctAaaaaaattatttatagaaga							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:58541473_58541473TA>T	uc002iys.1	-	6	961	c.673_splice	c.e6-1	p.A225_splice	APPBP2_uc010ddl.1_Splice_Site_p.A154_splice	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	225					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TTTGTATGCCTAAAAAAATTA	0.323													-	58541474	A	-	58541474	8	5	98	1	0	1	0	1	0	0	1	0	816	377	13	0		0	APPBP2	17	58541474	Splice_Site	DEL	A	TCGA-BR-8591-01A-11D-2394-08	282472	58541474	22653736	1437	65767											
TBX4	9496	broad.mit.edu	37	chr17	59560345	59560345	+	Frame_Shift_Del	DEL	C	C	-													ggaggatcactatttccgttCcccccctccctacgaccagc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:59560344_59560344TC>T	uc010ddo.3	+	8	1271	c.1108_1108TC>T	c.(1108-1110)tccfs	p.S370fs	TBX4_uc002izi.3_Frame_Shift_Del_p.S369fs|TBX4_uc010woy.2_Frame_Shift_Del_p.S370fs	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	369					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CTATTTCCGTTCCCCCCCTCC	0.572													-	59560345	C	-	59560345	7	5	98	1	0	1	0	1	0	0	0	0	15657	855	30	0	1136	0	TBX4	17	59560345	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	1018871	59560345	21634865	1438	65768											
STRADA	92335	broad.mit.edu	37	chr17	61781058	61781058	+	Frame_Shift_Del	DEL	G	G	-													ctgccctcaaaattggtgatGggggtgacaggacgaagcaa							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:61781057_61781057TG>T	uc002jbm.3	-	12	1472	c.1198_1198CA>A	c.(1198-1200)atcfs	p.I400fs	STRADA_uc002jbn.3_Frame_Shift_Del_p.I342fs|STRADA_uc010wpq.2_3'UTR|STRADA_uc010wpr.2_3'UTR|STRADA_uc002jbo.3_Frame_Shift_Del_p.I363fs|STRADA_uc002jbp.3_3'UTR|STRADA_uc010ddw.3_Frame_Shift_Del_p.I371fs|STRADA_uc002jbr.3_3'UTR	NM_001003787	NP_001003788	Q7RTN6	STRAA_HUMAN	Homo sapiens STE20-related kinase adaptor alpha (STRADA), transcript variant 1, mRNA.	400					activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						AAATTGGTGATGGGGGTGACA	0.557													-	61781058	G	-	61781058	7	5	98	1	0	1	0	1	0	0	0	0	15323	1335	47	0	102	0	STRADA	17	61781058	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	2220713	61781058	19414152	1439	65769											
CD79B	974	broad.mit.edu	37	chr17	62007589	62007589	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcttccatgcggccctttTccagcttcagctgctgggga	10	14	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:62007589T>C	uc002jdq.1	-	3	358	c.275A>G	c.(274-276)GAA>GGA	p.E92G	CD79B_uc002jdo.1_Missense_Mutation_p.E66G|CD79B_uc002jdp.1_Missense_Mutation_p.E93G|CD79B_uc002jdr.1_Intron	NM_000626	NP_000617	P40259	CD79B_HUMAN	CD79B antigen isoform 1 precursor	92	Extracellular (Potential).|Ig-like V-type.				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity				0						GCGGCCCTTTTCCAGCTTCAG	0.547			Mis|O		DLBCL								C	62007589	T	C	62007589	3	2	98	1	0	0	0	0	1	0	0	0	3037	1783	62	3	430	3	CD79B	17	62007589	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	226531	62007589	19187621	1440	65770											
TEX2	55852	broad.mit.edu	37	chr17	62265578	62265579	+	Frame_Shift_Ins	INS	-	-	G													ctctgcagggggctcctctgINSggggcttcggctttcctggg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:62265577_62265578T>TG	uc002jed.3	-	4	2546_2547	c.2395_2396A>CA	c.(2395-2397)cagfs	p.Q799fs	TEX2_uc002jec.3_Frame_Shift_Ins_p.Q792fs|TEX2_uc002jee.3_Frame_Shift_Ins_p.Q792fs	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	792					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GGGGCTCCTCTGGGGGCTTCGG	0.599													G	62265579	-	G	62265578	7	5	98	1	0	1	1	0	0	0	0	0	15778	1357	47	0	1041	0	TEX2	17	62265578	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	257989	62265578	18929632	1441	65771											
NOL11	25926	broad.mit.edu	37	chr17	65733740	65733740	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacttctggaaaggtgtaaAgcagaaccatcattttatcc	9	8	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:65733740A>C	uc002jgd.1	+	12	1338	c.1335A>C	c.(1333-1335)AAA>AAC	p.K445N	NOL11_uc010wql.1_Missense_Mutation_p.K263N|NOL11_uc010deu.1_Missense_Mutation_p.K40N	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	445						nucleolus					0	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAAGGTGTAAAGCAGAACCAT	0.443													C	65733740	A	C	65733740	3	2	98	1	0	0	0	0	1	0	0	0	10521	69	3	5	1381	5	NOL11	17	65733740	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	3468162	65733740	15461470	1442	65772											
SLC16A6	9120	broad.mit.edu	37	chr17	66267454	66267454	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaatggagaagtctaataGcggggctttcttttcgcttg	11	7	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:66267454G>A	uc002jgz.1	-	5	1035	c.847C>T	c.(847-849)CTA>TTA	p.L283L	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Silent_p.L283L	NM_004694	NP_004685	O15403	MOT7_HUMAN	solute carrier family 16, member 6	283	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity				0	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	AAGTCTAATAGCGGGGCTTTC	0.458													A	66267454	G	A	66267454	2	1	98	1	0	0	0	0	0	0	0	1	14412	962	34	2		2	SLC16A6	17	66267454	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	533714	66267454	14927756	1443	65773											
ABCA10	10349	broad.mit.edu	37	chr17	67152020	67152020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacatcttcatcttcttcttCgggctcttccggattgggat	8	11	6	0	rs150472849	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:67152020C>T	uc010dfa.1	-	30	4381	c.3502G>A	c.(3502-3504)GAA>AAA	p.E1168K	ABCA10_uc010wqs.1_Missense_Mutation_p.E160K|ABCA10_uc010wqt.1_RNA	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	1168					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					TCTTCTTCTTCGGGCTCTTCC	0.423													T	67152020	C	T	67152020	3	4	98	1	0	0	0	0	1	0	0	0	29	893	31	1	1173	1	ABCA10	17	67152020	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	884566	67152020	14043190	1444	65774											
ABCA5	23461	broad.mit.edu	37	chr17	67298973	67298973	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaataaatccaaaagccacAgtaacaaaaaattcaactat	2	10	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:67298973A>C	uc002jif.2	-	7	2223	c.1005T>G	c.(1003-1005)ACT>ACG	p.T335T	ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Silent_p.T335T|ABCA5_uc002jih.2_Silent_p.T335T|ABCA5_uc010dfe.2_Silent_p.T335T	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	335	Helical; (Potential).				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					CAAAAGCCACAGTAACAAAAA	0.313													C	67298973	A	C	67298973	2	2	98	1	0	0	0	0	0	0	0	1	35	175	7	5		5	ABCA5	17	67298973	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	146953	67298973	13896237	1445	65775											
ABCA5	23461	broad.mit.edu	37	chr17	67305446	67305446	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatactggaatcatatcaggAaaaaaacgaagttcatagga	9	5	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:67305446A>G	uc002jif.2	-	3	1644	c.426T>C	c.(424-426)TTT>TTC	p.F142F	ABCA5_uc002jig.2_Silent_p.F142F|ABCA5_uc002jih.2_Silent_p.F142F|ABCA5_uc010dfe.2_Silent_p.F142F	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	142					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					TCATATCAGGAAAAAAACGAA	0.343													G	67305446	A	G	67305446	2	3	98	1	0	0	0	0	0	0	0	1	35	243	9	3		3	ABCA5	17	67305446	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	6473	67305446	13889764	1446	65776											
SDK2	54549	broad.mit.edu	37	chr17	71386498	71386498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggtctgggccgtgatgcGgaacaggtagacagactctg	17	9	2	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:71386498G>A	uc010dfm.2	-	29	4120	c.4120C>T	c.(4120-4122)CGC>TGC	p.R1374C	SDK2_uc002jjt.3_Missense_Mutation_p.R533C|SDK2_uc010dfn.2_Missense_Mutation_p.R1053C	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1374	Fibronectin type-III 8.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2						GCCGTGATGCGGAACAGGTAG	0.672													A	71386498	G	A	71386498	3	1	98	1	0	0	0	0	1	0	0	0	13969	1116	39	1	2466	1	SDK2	17	71386498	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	4081052	71386498	9808712	1447	65777											
KIF19	124602	broad.mit.edu	37	chr17	72338838	72338839	+	Frame_Shift_Del	DEL	TT	TT	-													caggctacaatgccactgtcTttgcctatggccccacaggt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:72338837_72338838CTT>C	uc002jkm.4	+	3	438_439	c.300_301CTT>C	c.(298-303)gtctttfs	p.V100fs	KIF19_uc002jkj.2_Frame_Shift_Del_p.V100fs|KIF19_uc002jkk.2_Frame_Shift_Del_p.V100fs|KIF19_uc002jkl.2_Frame_Shift_Del_p.V100fs	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	100	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ATGCCACTGTCTTTGCCTATGG	0.604													-	72338839	TT	-	72338838	7	5	98	1	0	1	0	1	0	0	0	0	8282	1609	56	0	315	0	KIF19	17	72338838	Frame_Shift_Del	DEL	TT	TCGA-BR-8591-01A-11D-2394-08	952340	72338838	8856372	1448	65778											
KIF19	124602	broad.mit.edu	37	chr17	72345358	72345358	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgaacgtctcctaccacatCgcccagtacaccagcatcat	5	17	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:72345358C>T	uc002jkm.3	+	10	1221	c.1083C>T	c.(1081-1083)ATC>ATT	p.I361I	KIF19_uc002jkj.2_Silent_p.I361I|KIF19_uc002jkk.2_Silent_p.I319I|KIF19_uc002jkl.2_Silent_p.I319I	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	361	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						CCTACCACATCGCCCAGTACA	0.647													T	72345358	C	T	72345358	2	4	98	1	0	0	0	0	0	0	0	1	8282	874	31	1		1	KIF19	17	72345358	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	6520	72345358	8849852	1449	65779											
KIF19	124602	broad.mit.edu	37	chr17	72346664	72346664	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggagctggagaaccgCgccatggaggtccagattga	15	10	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:72346664C>T	uc002jkm.3	+	11	1476	c.1338C>T	c.(1336-1338)CGC>CGT	p.R446R	KIF19_uc002jkj.2_Silent_p.R446R|KIF19_uc002jkk.2_Silent_p.R404R|KIF19_uc002jkl.2_Silent_p.R404R	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	446	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						TGGAGAACCGCGCCATGGAGG	0.672													T	72346664	C	T	72346664	2	4	98	1	0	0	0	0	0	0	0	1	8282	755	27	1		1	KIF19	17	72346664	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1306	72346664	8848546	1450	65780											
FDXR	2232	broad.mit.edu	37	chr17	72860170	72860170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctcccgtgggcactgcaCgggtggcctcatcgacaccc	12	16	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:72860170C>T	uc002jly.2	-	10	1109	c.1022G>A	c.(1021-1023)CGT>CAT	p.R341H	FDXR_uc010wri.1_Missense_Mutation_p.R289H|FDXR_uc010wrj.1_Missense_Mutation_p.R339H|FDXR_uc002jlw.2_Missense_Mutation_p.R98H|FDXR_uc002jlx.2_Missense_Mutation_p.R347H|FDXR_uc002jmc.2_Missense_Mutation_p.R313H|FDXR_uc010wrk.1_Missense_Mutation_p.R372H|FDXR_uc010wrl.1_Missense_Mutation_p.R384H|FDXR_uc002jma.2_Missense_Mutation_p.R342H|FDXR_uc010wrm.1_Missense_Mutation_p.R301H|FDXR_uc002jlz.2_Missense_Mutation_p.R333H|FDXR_uc002jmb.2_Intron	NM_024417	NP_077728	P22570	ADRO_HUMAN	ferredoxin reductase isoform 1 precursor	341					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)					GGGCACTGCACGGGTGGCCTC	0.617													T	72860170	C	T	72860170	3	4	98	1	0	0	0	0	1	0	0	0	5807	536	19	1	465	1	FDXR	17	72860170	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	513506	72860170	8335040	1451	65781											
NUP85	79902	broad.mit.edu	37	chr17	73208107	73208107	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attggttcgagtgagtaaaaActaccgatcagtcatcagag	10	7	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:73208107A>T	uc002jng.1	+	4	571	c.311A>T	c.(310-312)AAC>ATC	p.N104I	NUP85_uc010dgd.1_Missense_Mutation_p.N104I|NUP85_uc010wrv.1_Missense_Mutation_p.N58I	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	104					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GTGAGTAAAAACTACCGATCA	0.199													T	73208107	A	T	73208107	3	4	98	1	0	0	0	0	1	0	0	0	10770	43	2	5	325	5	NUP85	17	73208107	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	347937	73208107	7987103	1452	65782											
CASKIN2	57513	broad.mit.edu	37	chr17	73498973	73498974	+	Frame_Shift_Ins	INS	-	-	G													tctgggaggttcctctcctgINSgggggggctgggatctccac							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:73498972_73498973T>TG	uc002joc.3	-	17	2732_2733	c.2182_2183A>CA	c.(2182-2184)cagfs	p.Q728fs	CASKIN2_uc010wsc.2_Frame_Shift_Ins_p.Q646fs	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	728	Pro-rich.					cytoplasm		p.Q728fs*74(2)		endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTTCCTCTCCTGGGGGGGGCTG	0.649													G	73498974	-	G	73498973	7	5	98	1	0	1	1	0	0	0	0	0	2667	1357	47	0	1438	0	CASKIN2	17	73498973	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	290866	73498973	7696237	1453	65783											
LLGL2	3993	broad.mit.edu	37	chr17	73554653	73554653	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttggagcctgaaggtcaagGgcggggcatcggagctgcag	18	8	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:73554653G>T	uc002joh.2	+	5	470	c.316G>T	c.(316-318)GGC>TGC	p.G106C	LLGL2_uc002jog.1_Missense_Mutation_p.G106C|LLGL2_uc010dgf.1_Missense_Mutation_p.G106C|LLGL2_uc002joi.2_Missense_Mutation_p.G106C|LLGL2_uc010dgg.1_Missense_Mutation_p.G106C|LLGL2_uc002joj.2_Missense_Mutation_p.G95C	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	106	WD 2.				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GAAGGTCAAGGGCGGGGCATC	0.632													T	73554653	G	T	73554653	3	4	98	1	0	0	0	0	1	0	0	0	8834	1232	43	5	330	5	LLGL2	17	73554653	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	55680	73554653	7640557	1454	65784											
RECQL5	9400	broad.mit.edu	37	chr17	73625168	73625168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcctctggggctgatgCcagcagagctgggctttcca	13	12	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:73625168C>T	uc010dgl.2	-	16	2491	c.2335G>A	c.(2335-2337)GCA>ACA	p.A779T	RECQL5_uc010dgk.2_Missense_Mutation_p.A752T|RECQL5_uc002jot.3_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	779					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGGGCTGATGCCAGCAGAGCT	0.632								Other_identified_genes_with_known_or_suspected_DNA_repair_function					T	73625168	C	T	73625168	3	4	98	1	0	0	0	0	1	0	0	0	13203	739	26	2	660	2	RECQL5	17	73625168	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	70515	73625168	7570042	1455	65785											
ITGB4	3691	broad.mit.edu	37	chr17	73736497	73736497	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accgagaacctgctgaagccTgacactcgggagtgcgccca	12	14	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:73736497T>C	uc002jpg.2	+	21	2692	c.2505T>C	c.(2503-2505)CCT>CCC	p.P835P	ITGB4_uc002jph.2_Silent_p.P835P|ITGB4_uc010dgo.2_Silent_p.P835P|ITGB4_uc002jpi.3_Silent_p.P835P|ITGB4_uc010dgp.1_Silent_p.P835P|ITGB4_uc002jpj.2_Silent_p.P835P	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	835	Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCTGAAGCCTGACACTCGGG	0.652													C	73736497	T	C	73736497	2	2	98	1	0	0	0	0	0	0	0	1	7897	1567	55	3		3	ITGB4	17	73736497	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	111329	73736497	7458713	1456	65786											
MRPL38	64978	broad.mit.edu	37	chr17	73894995	73894995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtagcgcaggggctgcCggtgggggaagcgcttctgc	19	11	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:73894995C>T	uc010wso.1	-	9	1304	c.1079G>A	c.(1078-1080)CGG>CAG	p.R360Q	FBF1_uc002jqa.1_RNA|TRIM65_uc002jpx.2_5'Flank|MRPL38_uc002jpz.1_RNA	NM_032478	NP_115867	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38 precursor	360						actin cytoskeleton|mitochondrion|ribosome				pancreas(1)	1			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGGGGCTGCCGGTGGGGGAA	0.617													T	73894995	C	T	73894995	3	4	98	1	0	0	0	0	1	0	0	0	9801	652	23	1	67	1	MRPL38	17	73894995	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	158498	73894995	7300215	1457	65787											
UBE2O	63893	broad.mit.edu	37	chr17	74388089	74388090	+	Frame_Shift_Ins	INS	-	-	G													tgggagaggtagcagaagtgINSggggggcacggctgggtaga							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:74388088_74388089T>TG	uc002jrm.4	-	15	3117_3118	c.3052_3053A>CA	c.(3052-3054)cacfs	p.H1018fs	UBE2O_uc002jrl.4_Frame_Shift_Ins_p.H622fs	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	1018							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GTAGCAGAAGTGGGGGGGCACG	0.584													G	74388090	-	G	74388089	7	5	98	1	0	1	1	0	0	0	0	0	16865	1348	47	0	838	0	UBE2O	17	74388089	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	493094	74388089	6807121	1458	65788											
SEC14L1	6397	broad.mit.edu	37	chr17	75209468	75209468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcatgcctgcgtgcgccGccagcagccttccccgggtg	13	17	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:75209468G>A	uc002jto.2	+	16	2203	c.1936G>A	c.(1936-1938)GCC>ACC	p.A646T	SEC14L1_uc010dhc.2_Missense_Mutation_p.A646T|SEC14L1_uc010wth.1_Missense_Mutation_p.A646T|SEC14L1_uc002jtm.2_Missense_Mutation_p.A646T|SEC14L1_uc010wti.1_Missense_Mutation_p.A612T|SEC14L1_uc010wtj.1_Missense_Mutation_p.R134H|SEC14L1_uc002jtr.2_Missense_Mutation_p.A40T	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	646	GOLD.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						TGCGTGCGCCGCCAGCAGCCT	0.597													A	75209468	G	A	75209468	3	1	98	1	0	0	0	0	1	0	0	0	13981	1087	38	1	1990	1	SEC14L1	17	75209468	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	821379	75209468	5985742	1459	65789											
TNRC6C	57690	broad.mit.edu	37	chr17	76047111	76047111	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatccaggtacaaactggggGgagactttaaaacctggccc	11	10	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:76047111G>T	uc002jud.2	+	4	2568	c.1968G>T	c.(1966-1968)GGG>GGT	p.G656G	TNRC6C_uc002juf.2_Silent_p.G656G|TNRC6C_uc002jue.2_Silent_p.G656G	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	656	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAAACTGGGGGGAGACTTTAA	0.512													T	76047111	G	T	76047111	2	4	98	1	0	0	0	0	0	0	0	1	16339	1219	43	5		5	TNRC6C	17	76047111	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	837643	76047111	5148099	1460	65790											
RPTOR	57521	broad.mit.edu	37	chr17	78857713	78857713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgactcggcgaggtggtgcGgcgtgagggacagcgctcat	18	10	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:78857713G>A	uc002jyt.1	+	16	2588	c.1783G>A	c.(1783-1785)GGC>AGC	p.G595S	RPTOR_uc010wug.1_Intron	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	595					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						GAGGTGGTGCGGCGTGAGGGA	0.662													A	78857713	G	A	78857713	3	1	98	1	0	0	0	0	1	0	0	0	13665	1116	39	1	1845	1	RPTOR	17	78857713	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2810602	78857713	2337497	1461	65791											
RPTOR	57521	broad.mit.edu	37	chr17	78899222	78899222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaagtttcatctccgccaCggtgcagacggggttctgcg	12	12	3	1	rs150835528		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:78899222C>T	uc002jyt.1	+	24	3666	c.2861C>T	c.(2860-2862)ACG>ATG	p.T954M	RPTOR_uc010wug.1_Missense_Mutation_p.T796M	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	954					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						ATCTCCGCCACGGTGCAGACG	0.582													T	78899222	C	T	78899222	3	4	98	1	0	0	0	0	1	0	0	0	13665	536	19	1	2955	1	RPTOR	17	78899222	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	41509	78899222	2295988	1462	65792											
NOTUM	147111	broad.mit.edu	37	chr17	79911029	79911029	+	Frame_Shift_Del	DEL	G	G	-													cagctgtccaccaggtggacGgggcagcccttgaggggggt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:79911028_79911028CG>C	uc010wvg.2	-	10	1572	c.1300_1300CG>G	c.(1300-1302)gtcfs	p.V434fs		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	Homo sapiens notum pectinacetylesterase homolog (Drosophila) (NOTUM), mRNA.	434						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACCAGGTGGACGGGGCAGCCC	0.667													-	79911029	G	-	79911029	7	5	98	1	0	1	0	1	0	0	0	0	10552	1103	39	0	195	0	NOTUM	17	79911029	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	1011807	79911029	1284181	1463	65793											
FASN	2194	broad.mit.edu	37	chr17	80038668	80038668	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcaccaggaacaggggCcgctccgagctctgcacgga	16	13	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:80038668C>T	uc002kdu.2	-	39	6843	c.6726G>A	c.(6724-6726)CGG>CGA	p.R2242R	FASN_uc002kdv.1_RNA	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	2242	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGAACAGGGGCCGCTCCGAGC	0.677													T	80038668	C	T	80038668	2	4	98	1	0	0	0	0	0	0	0	1	5683	726	26	2		2	FASN	17	80038668	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	127639	80038668	1156542	1464	65794											
CCDC57	284001	broad.mit.edu	37	chr17	80146227	80146227	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagctcctgcagctgctccAcgtgggctcccttcaccgcc	10	19	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:80146227A>G	uc002kdz.1	-	8	1275	c.920T>C	c.(919-921)GTG>GCG	p.V307A	CCDC57_uc002kdx.1_Missense_Mutation_p.V307A	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	307	Potential.									ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CAGCTGCTCCACGTGGGCTCC	0.652													G	80146227	A	G	80146227	3	3	98	1	0	0	0	0	1	0	0	0	2827	159	6	3	1871	3	CCDC57	17	80146227	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	107559	80146227	1048983	1465	65795											
MYOM1	8736	broad.mit.edu	37	chr18	3151848	3151849	+	Frame_Shift_Del	DEL	GT	GT	-													aaaacgagcaaacttcacagGtgtgtcattgcactgcgacc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:3151847_3151848GGT>G	uc002klp.3	-	11	2021_2022	c.1687_1688ACC>C	c.(1687-1689)cctfs	p.P563fs	MYOM1_uc002klq.3_Frame_Shift_Del_p.P563fs	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	563	Fibronectin type-III 1.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAACTTCACAGGTGTGTCATTG	0.421											OREG0024839	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	3151849	GT	-	3151848	7	5	98	1	0	1	0	1	0	0	0	0	10091	1261	44	0	3478	0	MYOM1	18	3151848	Frame_Shift_Del	DEL	GT	TCGA-BR-8591-01A-11D-2394-08		3151848	74925400	1466	65796											
ARHGAP28	79822	broad.mit.edu	37	chr18	6876205	6876205	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggatgtactgctaaagtcAaggtaccgaacattttgtct	9	8	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:6876205A>T	uc010wzi.1	+	9	995	c.757A>T	c.(757-759)AAG>TAG	p.K253*	ARHGAP28_uc002knc.2_Nonsense_Mutation_p.K378*|ARHGAP28_uc002knd.2_Nonsense_Mutation_p.K271*|ARHGAP28_uc002kne.2_Nonsense_Mutation_p.K271*|ARHGAP28_uc002knf.2_Nonsense_Mutation_p.K262*			B4DXL2	B4DXL2_HUMAN	SubName: Full=Putative uncharacterized protein ARHGAP28;	253					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)				TGCTAAAGTCAAGGTACCGAA	0.388													T	6876205	A	T	6876205	4	4	98	1	0	0	0	0	0	1	0	0	877	131	5	5	841	5	ARHGAP28	18	6876205	Nonsense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	3724357	6876205	71201043	1467	65797											
KIAA0802	23255	broad.mit.edu	37	chr18	8783624	8783624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctaggaagggagaaggacGagctggagcaggagctccag	18	7	0	1	rs116313795	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:8783624G>A	uc002knr.2	+	6	656	c.514G>A	c.(514-516)GAG>AAG	p.E172K	KIAA0802_uc002knq.2_Missense_Mutation_p.E172K|KIAA0802_uc010dkw.1_Missense_Mutation_p.E10K	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	523	Potential.										0						GGAGAAGGACGAGCTGGAGCA	0.612													A	8783624	G	A	8783624	3	1	98	1	0	0	0	0	1	0	0	0	8194	1059	37	1	528	1	KIAA0802	18	8783624	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1907419	8783624	69293624	1468	65798											
KIAA0802	23255	broad.mit.edu	37	chr18	8784564	8784564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccatgatgcggggctgcGgggtggtgcgcccttaccgg	17	13	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:8784564G>A	uc002knr.2	+	6	1596	c.1454G>A	c.(1453-1455)CGG>CAG	p.R485Q	KIAA0802_uc002knq.2_Missense_Mutation_p.R485Q|KIAA0802_uc010dkw.1_Missense_Mutation_p.R323Q	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	836											0						GCGGGGCTGCGGGGTGGTGCG	0.672													A	8784564	G	A	8784564	3	1	98	1	0	0	0	0	1	0	0	0	8194	1116	39	1	1468	1	KIAA0802	18	8784564	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	940	8784564	69292684	1469	65799											
LAMA3	3909	broad.mit.edu	37	chr18	21396419	21396419	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcgggagtgtgccagtgCcgagagcatgtcgtgggaaa	16	10	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:21396419C>T	uc002kuq.2	+	18	2201	c.2115C>T	c.(2113-2115)TGC>TGT	p.C705C	LAMA3_uc002kur.2_Silent_p.C705C	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	705	Domain V.|Laminin EGF-like 8.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTGCCAGTGCCGAGAGCATG	0.557													T	21396419	C	T	21396419	2	4	98	1	0	0	0	0	0	0	0	1	8607	747	26	2		2	LAMA3	18	21396419	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	12611855	21396419	56680829	1470	65800											
KLHL14	57565	broad.mit.edu	37	chr18	30350328	30350328	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgggggcccccaggccgTcctggccgccgacccctccc	12	22	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:30350328T>C	uc002kxm.1	-	2	615	c.227A>G	c.(226-228)GAC>GGC	p.D76G		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	76	BTB.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						CCCCAGGCCGTCCTGGCCGCC	0.507													C	30350328	T	C	30350328	3	2	98	1	0	0	0	0	1	0	0	0	8370	1667	58	3	1691	3	KLHL14	18	30350328	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	8953909	30350328	47726920	1471	65801											
ASXL3	80816	broad.mit.edu	37	chr18	31319986	31319986	+	Frame_Shift_Del	DEL	A	A	-													tagcgtcctgcaaagaacagAaaaaaaagtgttaccttcac							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:31319985_31319985GA>G	uc010dmg.1	+	10	2672	c.2617_2617GA>G	c.(2617-2619)gaafs	p.E873fs	ASXL3_uc002kxq.2_Frame_Shift_Del_p.E580fs	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAAAGAACAGAAAAAAAAGT	0.378													-	31319986	A	-	31319986	7	5	98	1	0	1	0	1	0	0	0	0	1068	246	9	0	2660	0	ASXL3	18	31319986	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	969658	31319986	46757262	1472	65802											
ASXL3	80816	broad.mit.edu	37	chr18	31325872	31325872	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagtacatccgccgccgccAccgcctccccctccccctcc	5	26	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:31325872A>G	uc010dmg.1	+	12	6115	c.6060A>G	c.(6058-6060)CCA>CCG	p.P2020P	ASXL3_uc002kxq.2_Silent_p.P1727P	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	2020	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						cgccgccgccaccgcctcccc	0.274													G	31325872	A	G	31325872	2	3	98	1	0	0	0	0	0	0	0	1	1068	146	6	3		3	ASXL3	18	31325872	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	5886	31325872	46751376	1473	65803											
FHOD3	80206	broad.mit.edu	37	chr18	34298375	34298375	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccgcccccaccccctccGcccctgttggacagcattcc	7	22	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:34298375G>A	uc002kzt.1	+	15	2635	c.2538G>A	c.(2536-2538)CCG>CCA	p.P846P	FHOD3_uc002kzs.1_Silent_p.P863P|FHOD3_uc010dmz.1_Silent_p.P578P|FHOD3_uc010dna.1_Silent_p.P166P	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	846	FH1.|Pro-rich.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACCCCCTCCGCCCCTGTTGG	0.627													A	34298375	G	A	34298375	2	1	98	1	0	0	0	0	0	0	0	1	5883	1074	38	1		1	FHOD3	18	34298375	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2972503	34298375	43778873	1474	65804											
CELF4	56853	broad.mit.edu	37	chr18	34833888	34833888	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcgcgctggccgggttgtcGaagctcacgaagcctggcga	16	12	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:34833888G>A	uc002lae.2	-	12	1743	c.1347C>T	c.(1345-1347)TTC>TTT	p.F449F	CELF4_uc010dnd.1_Silent_p.F447F|CELF4_uc002lag.2_Silent_p.F411F|CELF4_uc002laf.2_Silent_p.F443F	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	449	RRM 3.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						CCGGGTTGTCGAAGCTCACGA	0.478													A	34833888	G	A	34833888	2	1	98	1	0	0	0	0	0	0	0	1	3218	1049	37	1		1	CELF4	18	34833888	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	535513	34833888	43243360	1475	65805											
ST8SIA5	29906	broad.mit.edu	37	chr18	44336400	44336400	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtcaccaaggcaaaggcGcagatgaagatgaagagcaa	13	7	1	5			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:44336400G>A	uc002lcj.1	-	1	640	c.72C>T	c.(70-72)TGC>TGT	p.C24C	ST8SIA5_uc010xcy.1_Silent_p.C24C|ST8SIA5_uc010xcz.1_Silent_p.C24C|ST8SIA5_uc010dno.1_Silent_p.C24C	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	24	Helical; Signal-anchor for type II membrane protein; (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						AGGCAAAGGCGCAGATGAAGA	0.507													A	44336400	G	A	44336400	2	1	98	1	0	0	0	0	0	0	0	1	15234	1079	38	1		1	ST8SIA5	18	44336400	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	9502512	44336400	33740848	1476	65806											
MRO	83876	broad.mit.edu	37	chr18	48331614	48331614	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccagaacgacggtcagAgtcttcatactctcatggat	9	11	4	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:48331614A>C	uc002lew.3	-	5	633	c.339T>G	c.(337-339)ACT>ACG	p.T113T	MRO_uc010xdn.1_Silent_p.T113T|MRO_uc010dpa.2_Silent_p.T127T|MRO_uc010dpb.2_Silent_p.T127T|MRO_uc010dpc.2_Silent_p.T113T|MRO_uc002lex.3_Silent_p.T113T	NM_031939	NP_114145	Q9BYG7	MSTRO_HUMAN	maestro isoform a	113						nucleolus	binding				0		Colorectal(6;0.0596)		Colorectal(21;0.082)		CGACGGTCAGAGTCTTCATAC	0.443													C	48331614	A	C	48331614	2	2	98	1	0	0	0	0	0	0	0	1	9772	291	11	5		5	MRO	18	48331614	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	3995214	48331614	29745634	1477	65807											
MBD2	8932	broad.mit.edu	37	chr18	51750910	51750910	+	Frame_Shift_Del	DEL	C	C	-													gctccgggcagcagcggcctCcccccgggtgcgcgcgcatc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:51750910delC	uc002lfg.1	-	1	249	c.20delG	c.(19-21)GGAfs	p.G7fs	MBD2_uc002lfh.1_Frame_Shift_Del_p.G7fs|SNORA37_uc002lfi.1_5'Flank	NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2 isoform 1	7	Gly-rich.				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding				0				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	GCAGCGGCCTCCCCCCGGGTG	0.692													-	51750910	C	-	51750910	7	5	98	1	0	1	0	1	0	0	0	0	9343	855	30	0	1450	0	MBD2	18	51750910	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	3419296	51750910	26326338	1478	65808											
ALPK2	115701	broad.mit.edu	37	chr18	56203904	56203904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttgcgggtgagtgggccGtgggcaccaagtttctttcc	15	10	1	1	rs140868694	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:56203904G>A	uc002lhj.3	-	5	3729	c.3515C>T	c.(3514-3516)ACG>ATG	p.T1172M	ALPK2_uc002lhk.1_Missense_Mutation_p.T503M	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1172							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						TGAGTGGGCCGTGGGCACCAA	0.577													A	56203904	G	A	56203904	3	1	98	1	0	0	0	0	1	0	0	0	545	1145	40	1	3033	1	ALPK2	18	56203904	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	4452994	56203904	21873344	1479	65809											
ZNF532	55205	broad.mit.edu	37	chr18	56586448	56586448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaaatgacagtccgagagCcgctgacaagtctcctgaat	10	10	1	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:56586448C>T	uc002lho.2	+	4	1476	c.929C>T	c.(928-930)GCC>GTC	p.A310V	ZNF532_uc002lhp.2_Missense_Mutation_p.A308V|ZNF532_uc010xeg.1_Missense_Mutation_p.A308V|ZNF532_uc002lhr.2_Missense_Mutation_p.A308V|ZNF532_uc002lhs.2_Missense_Mutation_p.A308V	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						AGTCCGAGAGCCGCTGACAAG	0.512													T	56586448	C	T	56586448	3	4	98	1	0	0	0	0	1	0	0	0	17969	739	26	2	931	2	ZNF532	18	56586448	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	382544	56586448	21490800	1480	65810											
SERPINB13	5275	broad.mit.edu	37	chr18	61260183	61260183	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcgaaagaagattaattcCtgggttgaaagcaaaacaaa	9	5	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:61260183C>A	uc002ljc.2	+	5	618	c.450C>A	c.(448-450)TCC>TCA	p.S150S	SERPINB13_uc002ljd.2_Translation_Start_Site|SERPINB13_uc010xep.1_Silent_p.S159S|SERPINB13_uc010xeq.1_Intron|SERPINB13_uc010xer.1_Intron	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	serine (or cysteine) proteinase inhibitor, clade	150					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1						AGATTAATTCCTGGGTTGAAA	0.284													A	61260183	C	A	61260183	2	1	98	1	0	0	0	0	0	0	0	1	14100	668	24	5		5	SERPINB13	18	61260183	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	4673735	61260183	16817065	1481	65811											
DOK6	220164	broad.mit.edu	37	chr18	67425053	67425053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatatctcttcctcgcagcgCgtactggcatcacatcactc	6	15	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:67425053C>T	uc002lkl.2	+	7	990	c.800C>T	c.(799-801)GCG>GTG	p.A267V		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	docking protein 6	267	DKFBH motif.						insulin receptor binding	p.A267V(1)		upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CCTCGCAGCGCGTACTGGCAT	0.418													T	67425053	C	T	67425053	3	4	98	1	0	0	0	0	1	0	0	0	4701	768	27	1	826	1	DOK6	18	67425053	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	6164870	67425053	10652195	1482	65812											
RTTN	25914	broad.mit.edu	37	chr18	67813014	67813014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagctttaatgctagcgaaCggaccctgagaacacaaagt	9	9	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:67813014C>T	uc002lkp.2	-	18	2383	c.2315G>A	c.(2314-2316)CGT>CAT	p.R772H	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	772							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				TGCTAGCGAACGGACCCTGAG	0.383													T	67813014	C	T	67813014	3	4	98	1	0	0	0	0	1	0	0	0	13737	536	19	1	4493	1	RTTN	18	67813014	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	387961	67813014	10264234	1483	65813											
RTTN	25914	broad.mit.edu	37	chr18	67817853	67817853	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatgtcatacctcactttcGggctcttgaatgccaaatac	6	11	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:67817853G>A	uc002lkp.2	-	15	2114	c.2046C>T	c.(2044-2046)CCC>CCT	p.P682P	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	682							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				CCTCACTTTCGGGCTCTTGAA	0.333													A	67817853	G	A	67817853	2	1	98	1	0	0	0	0	0	0	0	1	13737	1103	39	1		1	RTTN	18	67817853	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	4839	67817853	10259395	1484	65814											
ZNF236	7776	broad.mit.edu	37	chr18	74607130	74607130	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcgccgtgaagagcacgCtgacagcgcacatcaagacg	11	14	1	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:74607130C>T	uc002lmi.2	+	10	1771	c.1573C>T	c.(1573-1575)CTG>TTG	p.L525L	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	525	C2H2-type 11.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GAAGAGCACGCTGACAGCGCA	0.617													T	74607130	C	T	74607130	2	4	98	1	0	0	0	0	0	0	0	1	17786	796	28	2		2	ZNF236	18	74607130	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	6789277	74607130	3470118	1485	65815											
ZNF236	7776	broad.mit.edu	37	chr18	74637264	74637264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgcccgcattgcgagctgCgtttccgtacctcgggtaga	12	12	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:74637264C>T	uc002lmi.2	+	22	3973	c.3775C>T	c.(3775-3777)CGT>TGT	p.R1259C	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1259	C2H2-type 25.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TTGCGAGCTGCGTTTCCGTAC	0.537													T	74637264	C	T	74637264	3	4	98	1	0	0	0	0	1	0	0	0	17786	768	27	1	3861	1	ZNF236	18	74637264	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	30134	74637264	3439984	1486	65816											
PARD6G	84552	broad.mit.edu	37	chr18	77917966	77917966	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggacccacgaagcccgcGgtgccgtccgagggcggtcc	18	15	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:77917966G>A	uc002lny.2	-	3	985	c.819C>T	c.(817-819)ACC>ACT	p.T273T	LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfn.1_Intron|LOC100130522_uc010xfo.1_Intron	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	PAR-6 gamma protein	273					cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding				0		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CGAAGCCCGCGGTGCCGTCCG	0.711													A	77917966	G	A	77917966	2	1	98	1	0	0	0	0	0	0	0	1	11447	1103	39	1		1	PARD6G	18	77917966	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3280702	77917966	159282	1487	65817											
HCN2	610	broad.mit.edu	37	chr19	613971	613971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggagtaccccatgatgCggcgcgccttcgagacggtg	16	11	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:613971C>T	uc002lpe.2	+	7	1998	c.1945C>T	c.(1945-1947)CGG>TGG	p.R649W		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic	649	cAMP.|Cytoplasmic (Potential).				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCATGATGCGGCGCGCCTT	0.731													T	613971	C	T	613971	3	4	98	1	0	0	0	0	1	0	0	0	6997	759	27	1	1971	1	HCN2	19	613971	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08		613971	58515012	1488	65818											
C19orf21	126353	broad.mit.edu	37	chr19	758640	758640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagaggtggcagaggagcGgagaaatgctctcttcccag	15	9	1	3	rs141415846		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:758640G>A	uc002lpo.2	+	2	1777	c.1694G>A	c.(1693-1695)CGG>CAG	p.R565Q		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	hypothetical protein LOC126353	565	Potential.							p.R565W(1)		upper_aerodigestive_tract(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGAGGAGCGGAGAAATGCT	0.612													A	758640	G	A	758640	3	1	98	1	0	0	0	0	1	0	0	0	1913	1116	39	1	1696	1	C19orf21	19	758640	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	144669	758640	58370343	1489	65819											
NDUFS7	374291	broad.mit.edu	37	chr19	1395407	1395407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggctgcccacctacggccGaggccctgctctacggcatc	11	18	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:1395407G>A	uc002lse.3	+	8	605	c.562G>A	c.(562-564)GAG>AAG	p.E188K	NDUFS7_uc002lsf.2_3'UTR|NDUFS7_uc002lsh.2_3'UTR|NDUFS7_uc002lsg.2_3'UTR|uc002lsi.1_RNA	NM_024407	NP_077718	O75251	NDUS7_HUMAN	NADH-ubiquinone oxidoreductase Fe-S protein 7	188					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	NADH(DB00157)	ACCTACGGCCGAGGCCCTGCT	0.612													A	1395407	G	A	1395407	3	1	98	1	0	0	0	0	1	0	0	0	10297	1059	37	1	592	1	NDUFS7	19	1395407	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	636767	1395407	57733576	1490	65820											
ATP8B3	148229	broad.mit.edu	37	chr19	1789491	1789491	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagatgaccgcctggcacTtggacgccaggtccacgaag	13	13	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:1789491T>C	uc002ltw.2	-	23	2948	c.2714A>G	c.(2713-2715)AAG>AGG	p.K905R	ATP8B3_uc002ltv.2_Missense_Mutation_p.K868R|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	905	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCTGGCACTTGGACGCCAG	0.687													C	1789491	T	C	1789491	3	2	98	1	0	0	0	0	1	0	0	0	1196	1609	56	3	1216	3	ATP8B3	19	1789491	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	394084	1789491	57339492	1491	65821											
SCAMP4	113178	broad.mit.edu	37	chr19	1918180	1918180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctggcctggtggatcgGcggaggctcggggaccaact	17	12	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:1918180G>A	uc002luj.2	+	4	298	c.191G>A	c.(190-192)GGC>GAC	p.G64D	SCAMP4_uc002lui.1_Missense_Mutation_p.G64D|SCAMP4_uc002luk.2_Missense_Mutation_p.G64D|SCAMP4_uc010dss.2_Missense_Mutation_p.G20D	NM_079834	NP_524558	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	64	Helical; (Potential).				protein transport	integral to membrane					0		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGGATCGGCGGAGGCTCG	0.647													A	1918180	G	A	1918180	3	1	98	1	0	0	0	0	1	0	0	0	13873	1203	42	2	201	2	SCAMP4	19	1918180	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	128689	1918180	57210803	1492	65822											
JSRP1	126306	broad.mit.edu	37	chr19	2255261	2255261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggtcctccagggcctggCagctgcccaggccgccatcc	13	17	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:2255261C>T	uc002lvi.1	-	1	88	c.53G>A	c.(52-54)TGC>TAC	p.C18Y	JSRP1_uc002lvj.1_Missense_Mutation_p.C18Y	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	18	Mediates interaction with CACNA1S (By similarity).					sarcoplasmic reticulum membrane				pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGCCTGGCAGCTGCCCAG	0.682													T	2255261	C	T	2255261	3	4	98	1	0	0	0	0	1	0	0	0	7966	710	25	2	966	2	JSRP1	19	2255261	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	337081	2255261	56873722	1493	65823											
TMPRSS9	360200	broad.mit.edu	37	chr19	2405448	2405448	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatccccgggggagtttccGtggcaagccagccttcgaga	14	13	0	1	rs149559028	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:2405448G>A	uc010xgx.1	+	6	645	c.645G>A	c.(643-645)CCG>CCA	p.P215P	TMPRSS9_uc002lvv.1_Silent_p.P249P	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	215	Extracellular (Potential).|Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGAGTTTCCGTGGCAAGCCA	0.617													A	2405448	G	A	2405448	2	1	98	1	0	0	0	0	0	0	0	1	16250	1132	40	1		1	TMPRSS9	19	2405448	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	150187	2405448	56723535	1494	65824											
NFIC	4782	broad.mit.edu	37	chr19	3381902	3381902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagcagaagtgggcgtcgCggctgctggccaagctgcgc	16	12	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:3381902C>T	uc010xhi.1	+	2	285	c.223C>T	c.(223-225)CGG>TGG	p.R75W	NFIC_uc002lxo.2_Missense_Mutation_p.R66W|NFIC_uc010xhh.1_Missense_Mutation_p.R66W|NFIC_uc002lxp.2_Missense_Mutation_p.R75W|NFIC_uc010xhj.1_Missense_Mutation_p.R75W|NFIC_uc002lxq.1_Missense_Mutation_p.R27W	NM_205843	NP_995315	P08651	NFIC_HUMAN	nuclear factor I/C isoform 2	75	CTF/NF-I.				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GTGGGCGTCGCGGCTGCTGGC	0.652													T	3381902	C	T	3381902	3	4	98	1	0	0	0	0	1	0	0	0	10372	759	27	1	236	1	NFIC	19	3381902	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	976454	3381902	55747081	1495	65825											
DAPK3	1613	broad.mit.edu	37	chr19	3959164	3959164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcgcacgaggtcctgcaCgaagcgcatctcggaggcta	15	13	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:3959164C>T	uc002lzc.1	-	8	1393	c.1300G>A	c.(1300-1302)GTG>ATG	p.V434M	DAPK3_uc002lzb.1_Missense_Mutation_p.V171M|DAPK3_uc002lzd.1_Missense_Mutation_p.V434M	NM_001348	NP_001339	O43293	DAPK3_HUMAN	death-associated protein kinase 3	434	Interaction with CDC5L (By similarity).				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTCCTGCACGAAGCGCATC	0.721													T	3959164	C	T	3959164	3	4	98	1	0	0	0	0	1	0	0	0	4237	536	19	1	68	1	DAPK3	19	3959164	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	577262	3959164	55169819	1496	65826											
PIAS4	51588	broad.mit.edu	37	chr19	4013167	4013167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgcactccacctacgacCgggccggcgctgtgcccagg	12	18	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:4013167C>T	uc002lzg.2	+	2	284	c.274C>T	c.(274-276)CGG>TGG	p.R92W		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	92					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCTACGACCGGGCCGGCGC	0.647													T	4013167	C	T	4013167	3	4	98	1	0	0	0	0	1	0	0	0	11878	643	23	1	280	1	PIAS4	19	4013167	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	54003	4013167	55115816	1497	65827											
HDGFRP2	84717	broad.mit.edu	37	chr19	4498835	4498835	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagaggtgcctgaatgccCtagaggagctgggaaccctg	15	9	0	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:4498835C>A	uc002mao.2	+	13	1591	c.1498C>A	c.(1498-1500)CTA>ATA	p.L500I	HDGFRP2_uc002map.2_Missense_Mutation_p.L500I|HDGFRP2_uc010dtz.1_RNA|HDGFRP2_uc010dua.2_5'Flank|HDGFRP2_uc002maq.1_5'Flank	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	hepatoma-derived growth factor-related protein 2	500					transcription, DNA-dependent	nucleus	DNA binding|protein binding				0						CCTGAATGCCCTAGAGGAGCT	0.637													A	4498835	C	A	4498835	3	1	98	1	0	0	0	0	1	0	0	0	7020	680	24	5	1548	5	HDGFRP2	19	4498835	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	485668	4498835	54630148	1498	65828											
PTPRS	5802	broad.mit.edu	37	chr19	5244257	5244257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctggggggcccctggcCgatggagttgacggccgaca	17	13	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:5244257C>T	uc002mbv.2	-	11	1459	c.1225G>A	c.(1225-1227)GGC>AGC	p.G409S	PTPRS_uc002mbu.1_Missense_Mutation_p.G396S|PTPRS_uc010xin.1_Missense_Mutation_p.G396S|PTPRS_uc002mbw.2_Missense_Mutation_p.G396S|PTPRS_uc002mbx.2_Missense_Mutation_p.G400S|PTPRS_uc002mby.2_Missense_Mutation_p.G396S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	409	Fibronectin type-III 1.|Extracellular (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGCCCCTGGCCGATGGAGTTG	0.667													T	5244257	C	T	5244257	3	4	98	1	0	0	0	0	1	0	0	0	12811	652	23	1	4733	1	PTPRS	19	5244257	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	745422	5244257	53884726	1499	65829											
DUS3L	56931	broad.mit.edu	37	chr19	5785513	5785513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgctccagcagccccacGggcacgtacctgcggcgggt	14	17	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:5785513G>A	uc002mdc.2	-	12	1858	c.1761C>T	c.(1759-1761)CCC>CCT	p.P587P	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Silent_p.P345P|DUS3L_uc010duk.2_Silent_p.P252P	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like isoform 1	587					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0						GCAGCCCCACGGGCACGTACC	0.721													A	5785513	G	A	5785513	2	1	98	1	0	0	0	0	0	0	0	1	4807	1103	39	1		1	DUS3L	19	5785513	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	541256	5785513	53343470	1500	65830											
CAPS	828	broad.mit.edu	37	chr19	5915081	5915081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgcccaccccaaggtgcGcagtggggagtggaccgagg	17	13	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:5915081G>A	uc002mdt.2	+	4	542	c.392G>A	c.(391-393)CGC>CAC	p.R131H	CAPS_uc002mdu.2_Intron	NM_004058	NP_004049	Q13938	CAYP1_HUMAN	calcyphosine isoform a	131					intracellular signal transduction	cytoplasm	calcium ion binding				0						CCCAAGGTGCGCAGTGGGGAG	0.692													A	5915081	G	A	5915081	3	1	98	1	0	0	0	0	1	0	0	0	2637	1087	38	1	402	1	CAPS	19	5915081	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	129568	5915081	53213902	1501	65831											
ACER1	125981	broad.mit.edu	37	chr19	6312428	6312428	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggacccagacaacgtaaAtgtagcgggagcgcttctgg	14	9	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:6312428A>G	uc002mel.2	-	2	254	c.176T>C	c.(175-177)ATT>ACT	p.I59T		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	59	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	ceramidase activity				0						GACAACGTAAATGTAGCGGGA	0.562													G	6312428	A	G	6312428	3	3	98	1	0	0	0	0	1	0	0	0	138	101	4	3	638	3	ACER1	19	6312428	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	397347	6312428	52816555	1502	65832											
PNPLA6	10908	broad.mit.edu	37	chr19	7623981	7623981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcctactgcgagtacctgCgcccgcccatcgactgcttc	9	18	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:7623981C>T	uc010xjq.1	+	30	3868	c.3673C>T	c.(3673-3675)CGC>TGC	p.R1225C	PNPLA6_uc002mgq.1_Missense_Mutation_p.R1177C|PNPLA6_uc010xjp.1_Missense_Mutation_p.R1150C|PNPLA6_uc002mgr.1_Missense_Mutation_p.R1177C|PNPLA6_uc002mgs.2_Missense_Mutation_p.R1215C|PNPLA6_uc002mgt.1_RNA	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	1216	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						CGAGTACCTGCGCCCGCCCAT	0.582													T	7623981	C	T	7623981	3	4	98	1	0	0	0	0	1	0	0	0	12169	768	27	1	3787	1	PNPLA6	19	7623981	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1311553	7623981	51505002	1503	65833											
KIAA1543	57662	broad.mit.edu	37	chr19	7676704	7676704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccccccgcgtcccgcgcCggccaggacccccacccagc	12	24	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:7676704C>T	uc002mgv.3	+	11	1426	c.1325C>T	c.(1324-1326)CCG>CTG	p.P442L	KIAA1543_uc002mgu.3_Missense_Mutation_p.P469L|KIAA1543_uc002mgw.2_5'Flank	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	442	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						CGTCCCGCGCCGGCCAGGACC	0.701													T	7676704	C	T	7676704	3	4	98	1	0	0	0	0	1	0	0	0	8243	652	23	1	1456	1	KIAA1543	19	7676704	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	52723	7676704	51452279	1504	65834											
EVI5L	115704	broad.mit.edu	37	chr19	7927323	7927323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggaggcggagcgcgcggCgctgcaggagaagctgcagt	20	10	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:7927323C>T	uc002min.2	+	16	1971	c.1817C>T	c.(1816-1818)GCG>GTG	p.A606V	EVI5L_uc010xjz.1_Missense_Mutation_p.A617V	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	606	Potential.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						GAGCGCGCGGCGCTGCAGGAG	0.672													T	7927323	C	T	7927323	3	4	98	1	0	0	0	0	1	0	0	0	5290	768	27	1	1912	1	EVI5L	19	7927323	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	250619	7927323	51201660	1505	65835											
MAP2K7	5609	broad.mit.edu	37	chr19	7976149	7976149	+	Frame_Shift_Del	DEL	C	C	-													ctgcagcccgagcgcattgaCcccccagaccccaccaagcc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:7976148_7976148AC>A	uc002mit.3	+	7	934	c.869_869AC>A	c.(868-870)gacfs	p.D290fs	MAP2K7_uc002miv.2_Frame_Shift_Del_p.D290fs|MAP2K7_uc010xka.1_Non-coding_Transcript|MAP2K7_uc010dvv.3_Frame_Shift_Del_p.D165fs|MAP2K7_uc010xkb.2_Frame_Shift_Del_p.D290fs	NM_145185	NP_660186	O14733	MP2K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA.	290	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D290D(1)		breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	GAGCGCATTGACCCCCCAGAC	0.701													-	7976149	C	-	7976149	7	5	98	1	0	1	0	1	0	0	0	0	9242	506	18	0	900	0	MAP2K7	19	7976149	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	48826	7976149	51152834	1506	65836											
MYO1F	4542	broad.mit.edu	37	chr19	8620596	8620596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttggcggcaatggcgtcttCggtgatctggggaagaagca	17	7	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:8620596C>T	uc002mkg.2	-	2	202	c.88G>A	c.(88-90)GAA>AAA	p.E30K	MYO1F_uc002mkh.2_Missense_Mutation_p.E30K|MYO1F_uc010xkf.1_Missense_Mutation_p.E30K	NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	30	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						ATGGCGTCTTCGGTGATCTGG	0.617													T	8620596	C	T	8620596	3	4	98	1	0	0	0	0	1	0	0	0	10073	893	31	1	3316	1	MYO1F	19	8620596	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	644447	8620596	50508387	1507	65837											
ADAMTS10	81794	broad.mit.edu	37	chr19	8670086	8670086	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggaagtgggtgctgggCgaggccactttgtagaagag	18	6	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:8670086C>T	uc002mkj.1	-	4	520	c.246G>A	c.(244-246)TCG>TCA	p.S82S	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	82					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						GGGTGCTGGGCGAGGCCACTT	0.692													T	8670086	C	T	8670086	2	4	98	1	0	0	0	0	0	0	0	1	256	755	27	1		1	ADAMTS10	19	8670086	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	49490	8670086	50458897	1508	65838											
MUC16	94025	broad.mit.edu	37	chr19	9068980	9068980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggacctgtttgtgtggCgatggtcttgtgtgtagata	15	4	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:9068980C>T	uc002mkp.2	-	3	18670	c.18466G>A	c.(18466-18468)GCC>ACC	p.A6156T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6158	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTTTGTGTGGCGATGGTCTTG	0.507													T	9068980	C	T	9068980	3	4	98	1	0	0	0	0	1	0	0	0	9973	768	27	1	25385	1	MUC16	19	9068980	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	398894	9068980	50060003	1509	65839											
MUC16	94025	broad.mit.edu	37	chr19	9069065	9069065	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgtctggggactttgtTgactgagcagaagctggcat	14	6	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:9069065T>C	uc002mkp.2	-	3	18585	c.18381A>G	c.(18379-18381)TCA>TCG	p.S6127S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6129	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGGACTTTGTTGACTGAGCAG	0.493													C	9069065	T	C	9069065	2	2	98	1	0	0	0	0	0	0	0	1	9973	1799	63	3		3	MUC16	19	9069065	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	85	9069065	50059918	1510	65840											
C19orf66	55337	broad.mit.edu	37	chr19	10200691	10200691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctcctcctgcgaccacGtctggtggcgccgcgtgccc	12	19	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:10200691G>A	uc002mmu.3	+	5	650	c.352G>A	c.(352-354)GTC>ATC	p.V118I	C19orf66_uc002mmv.3_Missense_Mutation_p.V118I|C19orf66_uc002mmw.3_Missense_Mutation_p.V67I	NM_018381	NP_060851	Q9NUL5	CS066_HUMAN	hypothetical protein LOC55337	118											0						CTGCGACCACGTCTGGTGGCG	0.587													A	10200691	G	A	10200691	3	1	98	1	0	0	0	0	1	0	0	0	1946	1145	40	1	370	1	C19orf66	19	10200691	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1131626	10200691	48928292	1511	65841											
TYK2	7297	broad.mit.edu	37	chr19	10461637	10461637	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagcagttcttcatgagaTgatagacctagaaggaaaaa	9	8	2	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:10461637T>C	uc002moc.3	-	25	3815	c.3437A>G	c.(3436-3438)CAT>CGT	p.H1146R	TYK2_uc010dxe.2_Missense_Mutation_p.H961R	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	1146	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CTTCATGAGATGATAGACCTA	0.537													C	10461637	T	C	10461637	3	2	98	1	0	0	0	0	1	0	0	0	16807	1464	51	3	130	3	TYK2	19	10461637	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	260946	10461637	48667346	1512	65842											
SMARCA4	6597	broad.mit.edu	37	chr19	11145661	11145661	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgcctcatggaggaggaCgagctcccctcgtggatcat	13	14	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:11145661C>T	uc002mqf.3	+	29	4307	c.4023C>T	c.(4021-4023)GAC>GAT	p.D1341D	SMARCA4_uc010dxp.2_Silent_p.D1341D|SMARCA4_uc010dxo.2_Silent_p.D1341D|SMARCA4_uc010dxq.2_Silent_p.D1308D|SMARCA4_uc010dxr.2_Silent_p.D1308D|SMARCA4_uc002mqj.3_Silent_p.D1308D|SMARCA4_uc010dxs.2_Silent_p.D1308D|SMARCA4_uc010dxt.1_Silent_p.D528D|SMARCA4_uc002mqh.3_Silent_p.D431D|SMARCA4_uc002mqi.1_Silent_p.D511D	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1341					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGGAGGAGGACGAGCTCCCCT	0.692			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				T	11145661	C	T	11145661	2	4	98	1	0	0	0	0	0	0	0	1	14770	535	19	1		1	SMARCA4	19	11145661	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	684024	11145661	47983322	1513	65843											
ZNF700	90592	broad.mit.edu	37	chr19	12061033	12061033	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatatgggagagaagccaTatgaatgtaaggattgtggg	14	4	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:12061033T>C	uc002msu.2	+	4	2320	c.2194T>C	c.(2194-2196)TAT>CAT	p.Y732H	ZNF700_uc010xme.1_Missense_Mutation_p.Y750H|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	732					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGAGAAGCCATATGAATGTAA	0.403													C	12061033	T	C	12061033	3	2	98	1	0	0	0	0	1	0	0	0	18101	1406	49	3	2208	3	ZNF700	19	12061033	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	915372	12061033	47067950	1514	65844											
ZNF433	163059	broad.mit.edu	37	chr19	12127030	12127030	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctctccagtgtgagttcGtttgtggataagatacaaac	9	7	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:12127030G>A	uc002msy.1	-	4	823	c.652C>T	c.(652-654)CGA>TGA	p.R218*	uc002msx.1_Intron|ZNF433_uc002msz.1_Nonsense_Mutation_p.R183*	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	218	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTGTGAGTTCGTTTGTGGATA	0.403													A	12127030	G	A	12127030	4	1	98	1	0	0	0	0	0	1	0	0	17904	1153	40	1	1373	1	ZNF433	19	12127030	Nonsense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	65997	12127030	47001953	1515	65845											
JUNB	3726	broad.mit.edu	37	chr19	12902621	12902621	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacagcccttctaccacgaCgactcatacacagctacggg	8	15	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:12902621C>T	uc002mvc.2	+	1	312	c.36C>T	c.(34-36)GAC>GAT	p.D12D	JUNB_uc002mvb.2_RNA	NM_002229	NP_002220	P17275	JUNB_HUMAN	jun B proto-oncogene	12						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			lung(2)|central_nervous_system(1)	3						TCTACCACGACGACTCATACA	0.662													T	12902621	C	T	12902621	2	4	98	1	0	0	0	0	0	0	0	1	7970	535	19	1		1	JUNB	19	12902621	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	775591	12902621	46226362	1516	65846											
NACC1	112939	broad.mit.edu	37	chr19	13246114	13246114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagggcctgtactgtgaCgtgtcagtggtggtcaaggg	17	8	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:13246114C>T	uc002mwm.2	+	2	261	c.93C>T	c.(91-93)GAC>GAT	p.D31D		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	transcriptional repressor NAC1	31	BTB.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body					0						TGTACTGTGACGTGTCAGTGG	0.622													T	13246114	C	T	13246114	2	4	98	1	0	0	0	0	0	0	0	1	10135	535	19	1		1	NACC1	19	13246114	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	343493	13246114	45882869	1517	65847											
ZSWIM4	65249	broad.mit.edu	37	chr19	13941323	13941323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctcttcactgtggcccGctatatggagcaccgcgggc	11	16	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:13941323G>A	uc002mxh.1	+	13	2618	c.2429G>A	c.(2428-2430)CGC>CAC	p.R810H	ZSWIM4_uc010xng.1_Missense_Mutation_p.R733H	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	810							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ACTGTGGCCCGCTATATGGAG	0.701													A	13941323	G	A	13941323	3	1	98	1	0	0	0	0	1	0	0	0	18240	1087	38	1	2479	1	ZSWIM4	19	13941323	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	695209	13941323	45187660	1518	65848											
PODNL1	79883	broad.mit.edu	37	chr19	14044132	14044132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagcgcagaccacgcgcccCgtgcagccgagccgcctcca	11	19	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:14044132C>T	uc002mxr.2	-	8	1199	c.925G>A	c.(925-927)GGG>AGG	p.G309R	PODNL1_uc010xni.1_Missense_Mutation_p.G227R|PODNL1_uc010xnj.1_Missense_Mutation_p.G307R|PODNL1_uc002mxs.2_Missense_Mutation_p.G218R	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	podocan-like 1 isoform 1	309	Leu-rich.|LRR 10.					proteinaceous extracellular matrix				central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			CCACGCGCCCCGTGCAGCCGA	0.726													T	14044132	C	T	14044132	3	4	98	1	0	0	0	0	1	0	0	0	12179	652	23	1	617	1	PODNL1	19	14044132	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	102809	14044132	45084851	1519	65849											
SAMD1	90378	broad.mit.edu	37	chr19	14199317	14199317	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtagattttcagggctggcCcgaggcggatggacaggccg	17	10	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:14199317C>A	uc010xnl.1	-	7	1529	c.1529G>T	c.(1528-1530)GGG>GTG	p.G510V		NM_138352	NP_612361	Q6SPF0	SAMD1_HUMAN	sterile alpha motif domain containing 1	510	SAM.					cytoplasm|extracellular region					0		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)		CAGGGCTGGCCCGAGGCGGAT	0.582													A	14199317	C	A	14199317	3	1	98	1	0	0	0	0	1	0	0	0	13814	623	22	5	90	5	SAMD1	19	14199317	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	155185	14199317	44929666	1520	65850											
EMR2	30817	broad.mit.edu	37	chr19	14865776	14865776	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggtctcacctgcacatcgTagtgggccatgaggacggca	14	11	1	1	rs143149076	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:14865776T>C	uc002mzp.1	-	14	2036	c.1580A>G	c.(1579-1581)TAC>TGC	p.Y527C	EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Intron|EMR2_uc002mzo.1_Missense_Mutation_p.Y516C|EMR2_uc002mzq.1_Missense_Mutation_p.Y467C|EMR2_uc002mzr.1_Missense_Mutation_p.Y478C|EMR2_uc002mzs.1_Missense_Mutation_p.Y385C|EMR2_uc002mzt.1_Missense_Mutation_p.Y423C|EMR2_uc002mzu.1_Missense_Mutation_p.Y434C|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_Intron	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	527	Extracellular (Potential).|GPS.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4						CTGCACATCGTAGTGGGCCAT	0.428													C	14865776	T	C	14865776	3	2	98	1	0	0	0	0	1	0	0	0	5105	1638	57	3	923	3	EMR2	19	14865776	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	666459	14865776	44263207	1521	65851											
EPHX3	79852	broad.mit.edu	37	chr19	15342847	15342847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgggggacgcgctccgaCggcgcccgcagcagccgcgc	18	17	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:15342847C>T	uc002nap.2	-	1	385	c.176G>A	c.(175-177)CGT>CAT	p.R59H	EPHX3_uc002naq.2_Missense_Mutation_p.R59H	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	abhydrolase domain containing 9 precursor	59						extracellular region	hydrolase activity				0						CGCGCTCCGACGGCGCCCGCA	0.736													T	15342847	C	T	15342847	3	4	98	1	0	0	0	0	1	0	0	0	5181	536	19	1	934	1	EPHX3	19	15342847	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	477071	15342847	43786136	1522	65852											
PGLYRP2	114770	broad.mit.edu	37	chr19	15580564	15580564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggaggccggcgcgcaccGcacaactcgggagcgtgtcg	17	14	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:15580564G>A	uc002nbf.3	-	4	1653	c.1520C>T	c.(1519-1521)GCG>GTG	p.A507V	PGLYRP2_uc002nbg.3_Missense_Mutation_p.A507V	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	507					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)	3						GGCGCGCACCGCACAACTCGG	0.741													A	15580564	G	A	15580564	3	1	98	1	0	0	0	0	1	0	0	0	11794	1087	38	1	218	1	PGLYRP2	19	15580564	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	237717	15580564	43548419	1523	65853											
CALR3	125972	broad.mit.edu	37	chr19	16595981	16595981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagagcagttaccttacacCtgatcagtttcttgttttcg	7	10	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:16595981C>T	uc002ned.2	-	4	548	c.485G>A	c.(484-486)AGG>AAG	p.R162K	MED26_uc002nee.2_Intron	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	calreticulin 3 precursor	162	N-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding				0						TACCTTACACCTGATCAGTTT	0.303													T	16595981	C	T	16595981	3	4	98	1	0	0	0	0	1	0	0	0	2593	681	24	4	693	4	CALR3	19	16595981	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1015417	16595981	42533002	1524	65854											
MED26	9441	broad.mit.edu	37	chr19	16687442	16687442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaagttaaccgtatagtctCgaggtcggtacctcttcttc	8	12	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:16687442C>T	uc002nen.1	-	3	1460	c.1199G>A	c.(1198-1200)CGA>CAA	p.R400Q	MED26_uc002nee.2_Intron	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	400					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			ovary(2)	2						CGTATAGTCTCGAGGTCGGTA	0.587													T	16687442	C	T	16687442	3	4	98	1	0	0	0	0	1	0	0	0	9444	884	31	1	607	1	MED26	19	16687442	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	91461	16687442	42441541	1525	65855											
TMEM38A	79041	broad.mit.edu	37	chr19	16790893	16790893	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggctgatctgctccttgggGagccactgatcgattacttc	11	11	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:16790893G>T	uc002nes.2	+	2	314	c.223G>T	c.(223-225)GAG>TAG	p.E75*		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	75	Cytoplasmic (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|ovary(1)	3						GCTCCTTGGGGAGCCACTGAT	0.617													T	16790893	G	T	16790893	4	4	98	1	0	0	0	0	0	1	0	0	16156	1175	41	5	229	5	TMEM38A	19	16790893	Nonsense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	103451	16790893	42338090	1526	65856											
ANKLE1	126549	broad.mit.edu	37	chr19	17396288	17396288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcactgaccccagctgaGcgccttcagactttcatccg	7	16	3	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:17396288G>A	uc002nga.2	+	7	1701	c.1425G>A	c.(1423-1425)GAG>GAA	p.E475E	ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Silent_p.E471E|ANKLE1_uc010xpn.1_Silent_p.E503E|ANKLE1_uc002nfy.2_Silent_p.E438E|ANKLE1_uc002nfz.2_Silent_p.E181E	NM_152363	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat domain 41	475						nuclear envelope					0						CCCCAGCTGAGCGCCTTCAGA	0.607													A	17396288	G	A	17396288	2	1	98	1	0	0	0	0	0	0	0	1	632	962	34	2		2	ANKLE1	19	17396288	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	605395	17396288	41732695	1527	65857											
GLT25D1	79709	broad.mit.edu	37	chr19	17679430	17679430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcgacctgcggaaggcggCgtccaggaacctggccttct	14	13	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:17679430C>T	uc002nhc.1	+	5	749	c.737C>T	c.(736-738)GCG>GTG	p.A246V	GLT25D1_uc010eax.1_Missense_Mutation_p.A14V	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	glycosyltransferase 25 domain containing 1	246					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity				0						CGGAAGGCGGCGTCCAGGAAC	0.602													T	17679430	C	T	17679430	3	4	98	1	0	0	0	0	1	0	0	0	6466	768	27	1	755	1	GLT25D1	19	17679430	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	283142	17679430	41449553	1528	65858											
UNC13A	23025	broad.mit.edu	37	chr19	17756598	17756598	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacgcgggatttgatgtcGtcatcctcgtcccagacgcg	11	13	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:17756598G>A	uc002nhd.2	-	19	2505	c.2505C>T	c.(2503-2505)GAC>GAT	p.D835D		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	747	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						ATTTGATGTCGTCATCCTCGT	0.592													A	17756598	G	A	17756598	2	1	98	1	0	0	0	0	0	0	0	1	16981	1136	40	1		1	UNC13A	19	17756598	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	77168	17756598	41372385	1529	65859											
MAP1S	55201	broad.mit.edu	37	chr19	17837574	17837574	+	Frame_Shift_Del	DEL	C	C	-													tgcgagagcccgtggtgacgCcccaggacctggaggggccg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:17837574delC	uc002nhe.1	+	5	1390	c.1381delC	c.(1381-1383)CCCfs	p.P461fs	MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Frame_Shift_Del_p.P461fs|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Frame_Shift_Del_p.P435fs	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	461	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						CGTGGTGACGCCCCAGGACCT	0.716													-	17837574	C	-	17837574	7	5	98	1	0	1	0	1	0	0	0	0	9234	739	26	0	1399	0	MAP1S	19	17837574	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	80976	17837574	41291409	1530	65860											
MAST3	23031	broad.mit.edu	37	chr19	18255932	18255933	+	Frame_Shift_Ins	INS	-	-	C													cgtgtgtggcagcctgcggcINScccccatcgttatccacagc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:18255931_18255932G>GC	uc002nhz.4	+	22	2844_2845	c.2844_2845G>GC	c.(2842-2847)cggcccfs	p.R948fs		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	948							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S949S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCAGCCTGCGGCCCCCCATCGT	0.649													C	18255933	-	C	18255932	7	5	98	1	0	1	1	0	0	0	0	0	9326	739	26	0	2935	0	MAST3	19	18255932	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	418358	18255932	40873051	1531	65861											
GDF15	9518	broad.mit.edu	37	chr19	18499387	18499387	+	Frame_Shift_Del	DEL	G	G	-													cttgcggccgcaagccgccaGggggcgccgcagagcgcgtg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:18499387delG	uc002niv.2	+	2	601	c.569delG	c.(568-570)AGGfs	p.R190fs		NM_004864	NP_004855	Q99988	GDF15_HUMAN	growth differentiation factor 15	190					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)	1						CAAGCCGCCAGGGGGCGCCGC	0.726											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	18499387	G	-	18499387	7	5	98	1	0	1	0	1	0	0	0	0	6313	1000	35	0	575	0	GDF15	19	18499387	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	243455	18499387	40629596	1532	65862											
CRTC1	23373	broad.mit.edu	37	chr19	18876267	18876267	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcccagctggcgtcagccccCtgtccctgagcacagaggca	12	17	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:18876267C>G	uc002nkb.3	+	9	1028	c.940C>G	c.(940-942)CTG>GTG	p.L314V	CRTC1_uc010ebv.2_Missense_Mutation_p.L330V|CRTC1_uc010ebw.2_Missense_Mutation_p.L179V|CRTC1_uc002nkc.3_Missense_Mutation_p.L179V	NM_015321	NP_056136	Q6UUV9	CRTC1_HUMAN	mucoepidermoid carcinoma translocated 1 isoform	314	Ser-rich.				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519						CGTCAGCCCCCTGTCCCTGAG	0.652													G	18876267	C	G	18876267	3	3	98	1	0	0	0	0	1	0	0	0	3899	680	24	5	1026	5	CRTC1	19	18876267	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	376880	18876267	40252716	1533	65863											
CRTC1	23373	broad.mit.edu	37	chr19	18888054	18888054	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggtcggcgacgtcagcttCgactccgacagccagtttcc	13	14	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:18888054C>T	uc002nkb.3	+	14	1855	c.1767C>T	c.(1765-1767)TTC>TTT	p.F589F	CRTC1_uc010ebv.2_Silent_p.F605F|CRTC1_uc010ebw.2_Silent_p.F425F|CRTC1_uc002nkc.3_Silent_p.F287F	NM_015321	NP_056136	Q6UUV9	CRTC1_HUMAN	mucoepidermoid carcinoma translocated 1 isoform	589					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519						ACGTCAGCTTCGACTCCGACA	0.632													T	18888054	C	T	18888054	2	4	98	1	0	0	0	0	0	0	0	1	3899	883	31	1		1	CRTC1	19	18888054	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	11787	18888054	40240929	1534	65864											
ARMC6	93436	broad.mit.edu	37	chr19	19162662	19162662	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgctgactgatggacagccaGacctcctggatgcccagggc	13	13	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:19162662G>A	uc002nld.2	+	5	859	c.511G>A	c.(511-513)GAC>AAC	p.D171N	ARMC6_uc002nlc.2_Missense_Mutation_p.D146N|ARMC6_uc010xql.1_Missense_Mutation_p.D78N|ARMC6_uc002nle.2_Missense_Mutation_p.D146N|ARMC6_uc010xqm.1_Missense_Mutation_p.D171N	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	171							protein binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			TGGACAGCCAGACCTCCTGGA	0.622													A	19162662	G	A	19162662	3	1	98	1	0	0	0	0	1	0	0	0	955	942	33	4	446	4	ARMC6	19	19162662	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	274608	19162662	39966321	1535	65865											
SLC25A42	284439	broad.mit.edu	37	chr19	19218784	19218784	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccatggatttatgcccacCgtgctgggggtcattcccta	10	12	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:19218784C>T	uc002nlf.1	+	7	730	c.579C>T	c.(577-579)ACC>ACT	p.T193T		NM_178526	NP_848621	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	193	Helical; Name=4; (Potential).|Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TTATGCCCACCGTGCTGGGGG	0.552													T	19218784	C	T	19218784	2	4	98	1	0	0	0	0	0	0	0	1	14507	639	23	1		1	SLC25A42	19	19218784	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	56122	19218784	39910199	1536	65866											
CILP2	148113	broad.mit.edu	37	chr19	19655029	19655029	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggccatgcggaagaaagccCcggtcattttacataccagc	10	12	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:19655029C>A	uc002nmv.3	+	8	1760	c.1675C>A	c.(1675-1677)CCG>ACG	p.P559T	CILP2_uc002nmw.3_Missense_Mutation_p.P565T	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	559						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						GAAGAAAGCCCCGGTCATTTT	0.627													A	19655029	C	A	19655029	3	1	98	1	0	0	0	0	1	0	0	0	3430	623	22	5	1705	5	CILP2	19	19655029	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	436245	19655029	39473954	1537	65867											
ZNF253	56242	broad.mit.edu	37	chr19	20002392	20002392	+	Frame_Shift_Del	DEL	A	A	-													agacatgacaatttacagttAaaaaaaggctgtaaaagcgt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:20002391_20002391TA>T	uc002noj.3	+	3	427	c.335_335TA>T	c.(334-336)ttafs	p.L112fs	ZNF253_uc002nok.3_Frame_Shift_Del_p.L36fs|ZNF253_uc002nol.3_Non-coding_Transcript	NM_021047	NP_066385	O75346	ZN253_HUMAN	Homo sapiens zinc finger protein 253 (ZNF253), mRNA.	112					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AATTTACAGTTAAAAAAAGGC	0.373													-	20002392	A	-	20002392	7	5	98	1	0	1	0	1	0	0	0	0	17794	359	13	0	350	0	ZNF253	19	20002392	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	347363	20002392	39126591	1538	65868											
ZNF486	90649	broad.mit.edu	37	chr19	20307886	20307886	+	Frame_Shift_Del	DEL	A	A	-													gacatggcaatttacactttAaaaaaggctgtgaaagtgtg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:20307885_20307885TA>T	uc002nou.2	+	3	423	c.366_366TA>T	c.(364-366)tttfs	p.F122fs		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	Homo sapiens zinc finger protein 486 (ZNF486), mRNA.	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						ATTTACACTTTAAAAAAGGCT	0.348													-	20307886	A	-	20307886	7	5	98	1	0	1	0	1	0	0	0	0	17936	363	13	0	381	0	ZNF486	19	20307886	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	305494	20307886	38821097	1539	65869											
ZNF430	80264	broad.mit.edu	37	chr19	21240479	21240479	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataattcatactggagagaaAccctacaaatgtgaagaatg	8	6	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:21240479A>G	uc002npj.2	+	5	1475	c.1365A>G	c.(1363-1365)AAA>AAG	p.K455K	ZNF430_uc002npk.2_Silent_p.K454K	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2						CTGGAGAGAAACCCTACAAAT	0.393													G	21240479	A	G	21240479	2	3	98	1	0	0	0	0	0	0	0	1	17901	40	2	3		3	ZNF430	19	21240479	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	932593	21240479	37888504	1540	65870											
ZNF254	9534	broad.mit.edu	37	chr19	24309953	24309953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacaaatgcttagaatgtgGcaaagcttttaagcaactct	7	8	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:24309953G>A	uc002nru.2	+	4	1285	c.1151G>A	c.(1150-1152)GGC>GAC	p.G384D	ZNF254_uc010xrk.1_Missense_Mutation_p.G299D	NM_203282	NP_975011	O75437	ZN254_HUMAN	zinc finger protein 254	384	C2H2-type 7.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TTAGAATGTGGCAAAGCTTTT	0.363													A	24309953	G	A	24309953	3	1	98	1	0	0	0	0	1	0	0	0	17795	1203	42	2	1165	2	ZNF254	19	24309953	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3069474	24309953	34819030	1541	65871											
C19orf12	83636	broad.mit.edu	37	chr19	30193764	30193764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccaggtgcctgatgatgGctgcggcttcgttaaagagc	13	10	0	3	rs61750862		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:30193764G>A	uc002nsk.2	-	3	712	c.281C>T	c.(280-282)GCC>GTC	p.A94V	C19orf12_uc002nsj.2_Missense_Mutation_p.A105V|C19orf12_uc002nsl.2_3'UTR|C19orf12_uc002nsm.2_RNA	NM_031448	NP_113636	Q9NSK7	CS012_HUMAN	hypothetical protein LOC83636 isoform 2	94						integral to membrane					0	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			CCTGATGATGGCTGCGGCTTC	0.612													A	30193764	G	A	30193764	3	1	98	1	0	0	0	0	1	0	0	0	1909	1203	42	2	148	2	C19orf12	19	30193764	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	5883811	30193764	28935219	1542	65872											
C19orf12	83636	broad.mit.edu	37	chr19	30193868	30193868	+	Frame_Shift_Del	DEL	C	C	-													gtcatccaggcacctaacagCcccccgacagccccccctag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:30193867_30193867GC>G	uc002nsj.3	-	2	338	c.211_211GC>C	c.(211-213)ctgfs	p.L71fs	C19orf12_uc002nsk.3_Frame_Shift_Del_p.L60fs|C19orf12_uc002nsl.3_3'UTR|C19orf12_uc002nsm.3_Non-coding_Transcript	NM_001031726	NP_113636	Q9NSK7	CS012_HUMAN	Homo sapiens chromosome 19 open reading frame 12 (C19orf12), transcript variant 1, mRNA.	60						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			GCACCTAACAGCCCCCCGACA	0.532													-	30193868	C	-	30193868	7	5	98	1	0	1	0	1	0	0	0	0	1909	726	26	0	252	0	C19orf12	19	30193868	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	104	30193868	28935115	1543	65873											
TSHZ3	57616	broad.mit.edu	37	chr19	31769082	31769082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccccagctaggagtgccGttctgggccttgttgattgc	12	14	1	1	rs144514621	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:31769082G>A	uc002nsy.3	-	2	1682	c.1617C>T	c.(1615-1617)AAC>AAT	p.N539N		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	539					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					TAGGAGTGCCGTTCTGGGCCT	0.547													A	31769082	G	A	31769082	2	1	98	1	0	0	0	0	0	0	0	1	16622	1136	40	1		1	TSHZ3	19	31769082	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1575214	31769082	27359901	1544	65874											
PEPD	5184	broad.mit.edu	37	chr19	33980942	33980942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctccctgcagacactgcCgctgtccgtgttgacgccac	11	17	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:33980942C>T	uc002nur.3	-	6	598	c.463G>A	c.(463-465)GGC>AGC	p.G155S	PEPD_uc010xrr.1_Missense_Mutation_p.G155S|PEPD_uc010xrs.1_Missense_Mutation_p.G91S	NM_000285	NP_000276	P12955	PEPD_HUMAN	prolidase isoform 1	155					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			ovary(2)	2	Esophageal squamous(110;0.137)					CAGACACTGCCGCTGTCCGTG	0.652													T	33980942	C	T	33980942	3	4	98	1	0	0	0	0	1	0	0	0	11728	652	23	1	1058	1	PEPD	19	33980942	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2211860	33980942	25148041	1545	65875											
KIAA0355	9710	broad.mit.edu	37	chr19	34838876	34838876	+	Frame_Shift_Del	DEL	C	C	-													cacggtcgccggccaggcaaCccccggggcaactggccgcc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:34838875_34838875AC>A	uc002nvd.4	+	10	3474	c.2615_2615AC>A	c.(2614-2616)aacfs	p.N872fs		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	872										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CGGCCAGGCAACCCCCGGGGC	0.637													-	34838876	C	-	34838876	7	5	98	1	0	1	0	1	0	0	0	0	8170	506	18	0	2654	0	KIAA0355	19	34838876	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	857934	34838876	24290107	1546	65876											
UBA2	10054	broad.mit.edu	37	chr19	34934770	34934770	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttgtttggggaagaagaTgctgatcaagaagtatctcc	12	6	2	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:34934770T>C	uc002nvk.2	+	7	673	c.603T>C	c.(601-603)GAT>GAC	p.D201D	UBA2_uc010xrx.1_Silent_p.D74D|UBA2_uc002nvl.2_Silent_p.D105D	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	201					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GGGAAGAAGATGCTGATCAAG	0.308													C	34934770	T	C	34934770	2	2	98	1	0	0	0	0	0	0	0	1	16825	1461	51	3		3	UBA2	19	34934770	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	95894	34934770	24194213	1547	65877											
GRAMD1A	57655	broad.mit.edu	37	chr19	35517005	35517005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcacagtctcagaccctcCctttgacacccagccccggc	6	20	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:35517005C>T	uc010xse.1	+	20	2272	c.2135C>T	c.(2134-2136)CCC>CTC	p.P712L	GRAMD1A_uc002nxk.2_Missense_Mutation_p.P701L|GRAMD1A_uc002nxl.2_Missense_Mutation_p.P474L|GRAMD1A_uc010xsf.1_Missense_Mutation_p.P713L|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Missense_Mutation_p.P323L	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	712						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TCAGACCCTCCCTTTGACACC	0.642													T	35517005	C	T	35517005	3	4	98	1	0	0	0	0	1	0	0	0	6747	623	22	4	2213	4	GRAMD1A	19	35517005	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	582235	35517005	23611978	1548	65878											
FFAR2	2867	broad.mit.edu	37	chr19	35941299	35941299	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggctggctgtggtgacgcTgctcaatttcctggtgtgct	16	9	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:35941299T>G	uc002nzg.2	+	2	763	c.683T>G	c.(682-684)CTG>CGG	p.L228R	FFAR2_uc010eea.2_Missense_Mutation_p.L228R	NM_005306	NP_005297	O15552	FFAR2_HUMAN	free fatty acid receptor 2	228	Helical; Name=6; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding			central_nervous_system(1)	1	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GTGGTGACGCTGCTCAATTTC	0.607													G	35941299	T	G	35941299	3	3	98	1	0	0	0	0	1	0	0	0	5828	1580	55	5	685	5	FFAR2	19	35941299	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	424294	35941299	23187684	1549	65879											
ATP4A	495	broad.mit.edu	37	chr19	36050092	36050092	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtcagggacaggcagAcctggggaaggggtgagcac	19	8	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:36050092A>C	uc002oal.1	-	8	1087	c.1058T>G	c.(1057-1059)GTC>GGC	p.V353G	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	353	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGACAGGCAGACCTGGGGAAG	0.647													C	36050092	A	C	36050092	3	2	98	1	0	0	0	0	1	0	0	0	1145	289	10	5	2109	5	ATP4A	19	36050092	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	108793	36050092	23078891	1550	65880											
MLL4	9757	broad.mit.edu	37	chr19	36210764	36210764	+	Frame_Shift_Del	DEL	C	C	-													cctagcagatgtggctcctaCccccccaaagacccctgccc					rs60207923	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:36210764delC	uc010eei.2	+	3	515	c.515delC	c.(514-516)ACCfs	p.T172fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	172					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGGCTCCTACCCCCCCAAAG	0.632													-	36210764	C	-	36210764	7	5	98	1	0	1	0	1	0	0	0	0	9623	507	18	0	525	0	MLL4	19	36210764	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	160672	36210764	22918219	1551	65881											
MLL4	9757	broad.mit.edu	37	chr19	36211209	36211209	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaaagatgggacaattgtcCttgggactcgaatcaggtca	12	7	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:36211209C>A	uc010eei.2	+	3	960	c.960C>A	c.(958-960)TCC>TCA	p.S320S		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	320					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GACAATTGTCCTTGGGACTCG	0.552													A	36211209	C	A	36211209	2	1	98	1	0	0	0	0	0	0	0	1	9623	668	24	5		5	MLL4	19	36211209	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	445	36211209	22917774	1552	65882											
MLL4	9757	broad.mit.edu	37	chr19	36228041	36228041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgctgtcatcttcctggCcgagcagctccccggagccc	11	16	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:36228041C>T	uc010eei.2	+	34	7427	c.7427C>T	c.(7426-7428)GCC>GTC	p.A2476V		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2476	FYR C-terminal.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATCTTCCTGGCCGAGCAGCTC	0.622													T	36228041	C	T	36228041	3	4	98	1	0	0	0	0	1	0	0	0	9623	739	26	2	7557	2	MLL4	19	36228041	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	16832	36228041	22900942	1553	65883											
PRODH2	58510	broad.mit.edu	37	chr19	36297674	36297674	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaccagcagcgagagcgcaGggttcagtgaggtgtactcc	14	12	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:36297674G>T	uc002obx.1	-	7	983	c.965C>A	c.(964-966)CCT>CAT	p.P322H		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	kidney and liver proline oxidase 1	322					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			ovary(2)	2	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGAGAGCGCAGGGTTCAGTGA	0.672													T	36297674	G	T	36297674	3	4	98	1	0	0	0	0	1	0	0	0	12549	1000	35	5	665	5	PRODH2	19	36297674	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	69633	36297674	22831309	1554	65884											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572874	38572874	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttcttcgacatcctgaaCgagttccgcagcgagcagcc	10	14	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:38572874C>T	uc002ohk.2	+	3	1178	c.669C>T	c.(667-669)AAC>AAT	p.N223N		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	223					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACATCCTGAACGAGTTCCGCA	0.711													T	38572874	C	T	38572874	2	4	98	1	0	0	0	0	0	0	0	1	14331	535	19	1		1	SIPA1L3	19	38572874	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2275200	38572874	20556109	1555	65885											
SIPA1L3	23094	broad.mit.edu	37	chr19	38684402	38684402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacccctgccgccggcagcGgctttcccgagaagaaatgt	11	16	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:38684402G>A	uc002ohk.2	+	18	5331	c.4822G>A	c.(4822-4824)GGC>AGC	p.G1608S		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1608					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGCCGGCAGCGGCTTTCCCGA	0.721													A	38684402	G	A	38684402	3	1	98	1	0	0	0	0	1	0	0	0	14331	1116	39	1	4884	1	SIPA1L3	19	38684402	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	111528	38684402	20444581	1556	65886											
SPINT2	10653	broad.mit.edu	37	chr19	38778555	38778555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaccagcaggaatgcagCggattcctctgtcccaagtg	12	13	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:38778555C>T	uc002ohr.1	+	3	648	c.317C>T	c.(316-318)GCG>GTG	p.A106V	SPINT2_uc002ohs.1_Missense_Mutation_p.A49V	NM_021102	NP_066925	O43291	SPIT2_HUMAN	serine protease inhibitor, Kunitz type, 2	106	Extracellular (Potential).				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity				0	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGGAATGCAGCGGATTCCTCT	0.537													T	38778555	C	T	38778555	3	4	98	1	0	0	0	0	1	0	0	0	15068	768	27	1	327	1	SPINT2	19	38778555	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	94153	38778555	20350428	1557	65887											
GGN	199720	broad.mit.edu	37	chr19	38876364	38876364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcagccgcgggtgcgggcGcggacacaggcggcgagggc	22	13	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:38876364G>A	uc002oij.1	-	3	1673	c.1538C>T	c.(1537-1539)GCG>GTG	p.A513V	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.A430V	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	513	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			gggtgcgggcgcggacacagg	0.249													A	38876364	G	A	38876364	3	1	98	1	0	0	0	0	1	0	0	0	6358	1087	38	1	428	1	GGN	19	38876364	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	97809	38876364	20252619	1558	65888											
FAM98C	147965	broad.mit.edu	37	chr19	38899406	38899406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggtgcttatgggcaacGttccagaccgggggggccgc	16	12	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:38899406G>A	uc002oin.1	+	8	953	c.934G>A	c.(934-936)GTT>ATT	p.V312I	FAM98C_uc002oio.1_Missense_Mutation_p.V230I|FAM98C_uc010xtz.1_Missense_Mutation_p.R178H	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	hypothetical protein LOC147965	312										skin(1)	1	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TATGGGCAACGTTCCAGACCG	0.572													A	38899406	G	A	38899406	3	1	98	1	0	0	0	0	1	0	0	0	5658	1145	40	1	964	1	FAM98C	19	38899406	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	23042	38899406	20229577	1559	65889											
RYR1	6261	broad.mit.edu	37	chr19	38994880	38994880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcaccaaccactatgaGcgctgttggaagtactactg	8	13	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:38994880G>A	uc002oit.2	+	50	8077	c.7947G>A	c.(7945-7947)GAG>GAA	p.E2649E	RYR1_uc002oiu.2_Silent_p.E2649E|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2649	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCACTATGAGCGCTGTTGGA	0.597													A	38994880	G	A	38994880	2	1	98	1	0	0	0	0	0	0	0	1	13768	962	34	2		2	RYR1	19	38994880	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	95474	38994880	20134103	1560	65890											
RYR1	6261	broad.mit.edu	37	chr19	39018309	39018309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaggctccccgtctctgcGctggcagatggctctgtacc	12	15	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:39018309G>A	uc002oit.2	+	73	10839	c.10709G>A	c.(10708-10710)CGC>CAC	p.R3570H	RYR1_uc002oiu.2_Missense_Mutation_p.R3565H|RYR1_uc002oiv.1_Missense_Mutation_p.R485H|RYR1_uc010xuf.1_Missense_Mutation_p.R490H	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3570					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCGTCTCTGCGCTGGCAGATG	0.647													A	39018309	G	A	39018309	3	1	98	1	0	0	0	0	1	0	0	0	13768	1087	38	1	10999	1	RYR1	19	39018309	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	23429	39018309	20110674	1561	65891											
MAP4K1	11184	broad.mit.edu	37	chr19	39108034	39108034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacgatgttggcgtgccGgcaagttttcaatatgagga	14	8	1	1	rs35079766		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:39108034G>A	uc002oix.1	-	3	316	c.208C>T	c.(208-210)CGG>TGG	p.R70W	MAP4K1_uc002oiy.1_Missense_Mutation_p.R70W|EIF3K_uc010xuh.1_5'Flank|EIF3K_uc002oiz.1_5'Flank|EIF3K_uc010xui.1_5'Flank	NM_007181	NP_009112	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase	70	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			skin(4)|lung(3)|ovary(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTGGCGTGCCGGCAAGTTTTC	0.562													A	39108034	G	A	39108034	3	1	98	1	0	0	0	0	1	0	0	0	9259	1115	39	1	2475	1	MAP4K1	19	39108034	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	89725	39108034	20020949	1562	65892											
MED29	55588	broad.mit.edu	37	chr19	39882043	39882043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcagtcgtaacgcacttcCggcggtctacgcgaggaaga	13	12	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:39882043C>T	uc002olf.2	+	1	81	c.44C>T	c.(43-45)CCG>CTG	p.P15L	PAF1_uc002old.2_5'Flank|PAF1_uc002ole.1_5'Flank|PAF1_uc010xuv.1_5'Flank|MED29_uc010xuw.1_Missense_Mutation_p.P15L|MED29_uc010xux.1_RNA	NM_017592	NP_060062	Q9NX70	MED29_HUMAN	mediator complex subunit 29	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			ovary(1)|pancreas(1)	2	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AACGCACTTCCGGCGGTCTAC	0.587													T	39882043	C	T	39882043	3	4	98	1	0	0	0	0	1	0	0	0	9447	652	23	1	46	1	MED29	19	39882043	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	774009	39882043	19246940	1563	65893											
FCGBP	8857	broad.mit.edu	37	chr19	40433949	40433949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcagaatggatcaccaccGcatgctggaagatcttgctg	11	10	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:40433949G>A	uc002omp.3	-	2	328	c.320C>T	c.(319-321)GCG>GTG	p.A107V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	107	IgGFc-binding.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GATCACCACCGCATGCTGGAA	0.567													A	40433949	G	A	40433949	3	1	98	1	0	0	0	0	1	0	0	0	5778	1087	38	1	16037	1	FCGBP	19	40433949	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	551906	40433949	18695034	1564	65894											
C19orf47	126526	broad.mit.edu	37	chr19	40828158	40828158	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggactggccttggctgggccCcgtcctagcttcttcaggac	13	14	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:40828158C>A	uc002oni.3	-	9	901	c.900G>T	c.(898-900)CGG>CGT	p.R300R	C19orf47_uc002ong.2_Silent_p.R159R|C19orf47_uc002onh.2_Silent_p.R233R	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	hypothetical protein LOC126526	300										ovary(1)|skin(1)	2			Lung(22;0.000636)			TGGCTGGGCCCCGTCCTAGCT	0.647													A	40828158	C	A	40828158	2	1	98	1	0	0	0	0	0	0	0	1	1930	610	22	5		5	C19orf47	19	40828158	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	394209	40828158	18300825	1565	65895											
PRX	57716	broad.mit.edu	37	chr19	40901573	40901573	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaacagagggcactcggaAgcccacttccctgacccctg	9	16	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:40901573A>G	uc002onr.2	-	7	2955	c.2686T>C	c.(2686-2688)TTC>CTC	p.F896L	PRX_uc002onq.2_Missense_Mutation_p.F757L|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	896					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCACTCGGAAGCCCACTTCC	0.612													G	40901573	A	G	40901573	3	3	98	1	0	0	0	0	1	0	0	0	12642	72	3	3	1703	3	PRX	19	40901573	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	73415	40901573	18227410	1566	65896											
CCDC97	90324	broad.mit.edu	37	chr19	41822577	41822577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgttcctggagcgcttccGcacaggcctccgtgaggagc	15	13	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:41822577G>A	uc002oqg.2	+	2	457	c.335G>A	c.(334-336)CGC>CAC	p.R112H	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	112											0						GAGCGCTTCCGCACAGGCCTC	0.637													A	41822577	G	A	41822577	3	1	98	1	0	0	0	0	1	0	0	0	2875	1087	38	1	341	1	CCDC97	19	41822577	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	921004	41822577	17306406	1567	65897											
CCDC97	90324	broad.mit.edu	37	chr19	41825583	41825583	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggagctcagtgcccgcaccCcaacccaccagccccccaag	8	21	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:41825583C>A	uc002oqg.2	+	3	729	c.607C>A	c.(607-609)CCA>ACA	p.P203T	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	203											0						TGCCCGCACCCCAACCCACCA	0.647													A	41825583	C	A	41825583	3	1	98	1	0	0	0	0	1	0	0	0	2875	623	22	5	617	5	CCDC97	19	41825583	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3006	41825583	17303400	1568	65898											
CEACAM3	1084	broad.mit.edu	37	chr19	42301803	42301803	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaatgtcacccagaatgAcataggattctacaccctac	6	13	2	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:42301803A>C	uc002orn.1	+	2	423	c.347A>C	c.(346-348)GAC>GCC	p.D116A	CEACAM3_uc010eia.1_Missense_Mutation_p.D116A|CEACAM3_uc002oro.1_RNA	NM_001815	NP_001806	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion	116	Ig-like V-type.|Extracellular (Potential).					integral to membrane				skin(1)	1						ACCCAGAATGACATAGGATTC	0.458													C	42301803	A	C	42301803	3	2	98	1	0	0	0	0	1	0	0	0	3193	275	10	5	353	5	CEACAM3	19	42301803	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	476220	42301803	16827180	1569	65899											
CD79A	973	broad.mit.edu	37	chr19	42383115	42383115	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcatcattgatggtgagCctgggggaagacgcccactt	13	11	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:42383115C>T	uc002orv.2	+	2	320	c.135C>T	c.(133-135)AGC>AGT	p.S45S	CD79A_uc002oru.2_Silent_p.S45S	NM_001783	NP_001774	P11912	CD79A_HUMAN	CD79A antigen isoform 1 precursor	45	Ig-like C2-type.|Extracellular (Potential).				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			ovary(2)|pancreas(1)	3						TGATGGTGAGCCTGGGGGAAG	0.632			O|S		DLBCL								T	42383115	C	T	42383115	2	4	98	1	0	0	0	0	0	0	0	1	3036	738	26	2		2	CD79A	19	42383115	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	81312	42383115	16745868	1570	65900											
ARHGEF1	9138	broad.mit.edu	37	chr19	42406803	42406803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctcggttctgtgccttcGtgcaggtgaggtggggtctg	16	10	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:42406803G>A	uc002orx.2	+	17	1727	c.1618G>A	c.(1618-1620)GTG>ATG	p.V540M	ARHGEF1_uc002ory.2_Missense_Mutation_p.V507M|ARHGEF1_uc002orz.2_Missense_Mutation_p.V378M|ARHGEF1_uc002osa.2_Missense_Mutation_p.V555M|ARHGEF1_uc002osb.2_Missense_Mutation_p.V522M|ARHGEF1_uc002osc.2_Missense_Mutation_p.V294M|ARHGEF1_uc002osd.2_Missense_Mutation_p.V199M|ARHGEF1_uc002ose.2_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	540	DH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CTGTGCCTTCGTGCAGGTGAG	0.433													A	42406803	G	A	42406803	3	1	98	1	0	0	0	0	1	0	0	0	893	1145	40	1	1729	1	ARHGEF1	19	42406803	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	23688	42406803	16722180	1571	65901											
ATP1A3	478	broad.mit.edu	37	chr19	42482399	42482399	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacaaagcagaggttgtcCgtggtgaagttcacgtcatc	11	11	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:42482399C>T	uc002osg.2	-	13	1864	c.1710G>A	c.(1708-1710)ACG>ACA	p.T570T	ATP1A3_uc010xwf.1_Silent_p.T581T|ATP1A3_uc010xwg.1_Silent_p.T540T|ATP1A3_uc010xwh.1_Silent_p.T583T|ATP1A3_uc002osh.2_Silent_p.T570T	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	570	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						AGAGGTTGTCCGTGGTGAAGT	0.597													T	42482399	C	T	42482399	2	4	98	1	0	0	0	0	0	0	0	1	1130	639	23	1		1	ATP1A3	19	42482399	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	75596	42482399	16646584	1572	65902											
PSG6	5675	broad.mit.edu	37	chr19	43420541	43420541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctggggcaaattgtggaCaagtagaagaacatccttcc	10	8	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:43420541C>T	uc002ovj.1	-	2	215	c.163G>A	c.(163-165)GTC>ATC	p.V55I	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ovf.1_Missense_Mutation_p.V55I|PSG6_uc002ovg.1_Missense_Mutation_p.V55I	NM_002782	NP_002773	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6 isoform	55	Ig-like V-type.				female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)				AAATTGTGGACAAGTAGAAGA	0.443													T	43420541	C	T	43420541	3	4	98	1	0	0	0	0	1	0	0	0	12659	478	17	4	1203	4	PSG6	19	43420541	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	938142	43420541	15708442	1573	65903											
PSG2	5670	broad.mit.edu	37	chr19	43579535	43579535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagggtgactgggtcactgCggctggcactccctgagttc	14	12	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:43579535C>T	uc002ovr.2	-	3	773	c.680G>A	c.(679-681)CGC>CAC	p.R227H	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.R227H|PSG2_uc010eiq.1_Missense_Mutation_p.R227H|PSG2_uc002ovs.3_Missense_Mutation_p.R227H|PSG2_uc002ovt.3_Missense_Mutation_p.R227H	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	227	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)				TGGGTCACTGCGGCTGGCACT	0.532													T	43579535	C	T	43579535	3	4	98	1	0	0	0	0	1	0	0	0	12655	768	27	1	339	1	PSG2	19	43579535	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	158994	43579535	15549448	1574	65904											
ZNF224	7767	broad.mit.edu	37	chr19	44611445	44611445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catataattgtaaagagtgtGggaagagcttcagatgggcc	13	5	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:44611445G>A	uc002oyh.1	+	6	1434	c.1132G>A	c.(1132-1134)GGG>AGG	p.G378R	uc002oyi.2_RNA	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	378	C2H2-type 8.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				TAAAGAGTGTGGGAAGAGCTT	0.423													A	44611445	G	A	44611445	3	1	98	1	0	0	0	0	1	0	0	0	17775	1348	47	4	1146	4	ZNF224	19	44611445	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1031910	44611445	14517538	1575	65905											
ZNF180	7733	broad.mit.edu	37	chr19	44982338	44982338	+	Frame_Shift_Del	DEL	T	T	-													ctctgctttgaagttgaatcTttttttccaactgcagttgc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:44982337_44982337CT>C	uc002ozf.4	-	4	643	c.361_361AG>G	c.(361-363)gatfs	p.D121fs	ZNF180_uc002ozh.4_5'UTR|ZNF180_uc002ozi.4_Frame_Shift_Del_p.D94fs|ZNF180_uc002ozg.4_Frame_Shift_Del_p.D120fs|ZNF180_uc010ejm.3_Frame_Shift_Del_p.D96fs	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	121	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GAAGTTGAATCTTTTTTTCCA	0.338													-	44982338	T	-	44982338	7	5	98	1	0	1	0	1	0	0	0	0	17745	1606	56	0	1722	0	ZNF180	19	44982338	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	370893	44982338	14146645	1576	65906											
PPM1N	147699	broad.mit.edu	37	chr19	46002428	46002428	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggccgtgtcgcgagcgtTgggcgactttacctacaagg	14	11	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:46002428T>C	uc002pce.2	+	1	698	c.698T>C	c.(697-699)TTG>TCG	p.L233S	RTN2_uc002pcb.2_5'Flank|RTN2_uc002pcc.2_5'Flank|RTN2_uc002pcd.2_5'Flank|PPM1N_uc002pcf.2_5'Flank	NM_001080401	NP_001073870	Q8N819	PPM1N_HUMAN	protein phosphatase 1B-like	233	PP2C-like.						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity				0						TCGCGAGCGTTGGGCGACTTT	0.721													C	46002428	T	C	46002428	3	2	98	1	0	0	0	0	1	0	0	0	12346	1821	63	3	700	3	PPM1N	19	46002428	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1020090	46002428	13126555	1577	65907											
DMPK	1760	broad.mit.edu	37	chr19	46274895	46274895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgtgtgcctctaggtcccGgttccgagcctctgcctcgc	12	16	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:46274895G>A	uc002pdd.1	-	11	2105	c.1561C>T	c.(1561-1563)CGG>TGG	p.R521W	SIX5_uc002pdb.2_5'Flank|SIX5_uc002pdc.2_5'Flank|DMPK_uc010xxs.1_Missense_Mutation_p.R422W|DMPK_uc002pde.1_Missense_Mutation_p.R516W|DMPK_uc002pdf.1_Missense_Mutation_p.R511W|DMPK_uc002pdg.1_Missense_Mutation_p.R506W|DMPK_uc002pdh.1_Missense_Mutation_p.R506W|DMPK_uc002pdi.1_Missense_Mutation_p.R537W|DMPK_uc010xxt.1_Missense_Mutation_p.R506W	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	myotonic dystrophy protein kinase isoform 1	521					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)	3		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TCTAGGTCCCGGTTCCGAGCC	0.667													A	46274895	G	A	46274895	3	1	98	1	0	0	0	0	1	0	0	0	4584	1115	39	1	381	1	DMPK	19	46274895	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	272467	46274895	12854088	1578	65908											
HIF3A	64344	broad.mit.edu	37	chr19	46811551	46811551	+	Frame_Shift_Del	DEL	C	C	-													ggagcttcaggacgccctgaCcccccagcagagtgagttcc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:46811550_46811550AC>A	uc002peh.3	+	3	467	c.436_436AC>A	c.(436-438)accfs	p.T146fs	HIF3A_uc002pef.2_Frame_Shift_Del_p.T146fs|HIF3A_uc002peg.4_Frame_Shift_Del_p.T146fs|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Frame_Shift_Del_p.T90fs|HIF3A_uc002pej.2_Frame_Shift_Del_p.T77fs|HIF3A_uc010xxy.2_Frame_Shift_Del_p.T77fs|HIF3A_uc002pel.3_Frame_Shift_Del_p.T144fs|HIF3A_uc010xxz.2_Frame_Shift_Del_p.T95fs	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	146	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GGACGCCCTGACCCCCCAGCA	0.607													-	46811551	C	-	46811551	7	5	98	1	0	1	0	1	0	0	0	0	7105	507	18	0	475	0	HIF3A	19	46811551	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	536656	46811551	12317432	1579	65909											
PTGIR	5739	broad.mit.edu	37	chr19	47127183	47127183	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggacgccaggccgaagaaGgtcatggcgaaggcgaaggc	17	9	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:47127183G>T	uc002pex.2	-	2	413	c.300C>A	c.(298-300)ACC>ACA	p.T100T		NM_000960	NP_000951	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	100	Helical; Name=3; (Potential).				cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GGCCGAAGAAGGTCATGGCGA	0.701													T	47127183	G	T	47127183	2	4	98	1	0	0	0	0	0	0	0	1	12751	987	35	5		5	PTGIR	19	47127183	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	315632	47127183	12001800	1580	65910											
PRKD2	25865	broad.mit.edu	37	chr19	47201052	47201052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgtggtgctggatttccGcgtcgtgtgtcgcaccgatt	14	11	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:47201052G>A	uc002pfh.2	-	9	1519	c.1177C>T	c.(1177-1179)CGG>TGG	p.R393W	PRKD2_uc002pfe.2_5'Flank|PRKD2_uc002pff.2_5'Flank|PRKD2_uc002pfg.2_Missense_Mutation_p.R236W|PRKD2_uc002pfi.2_Missense_Mutation_p.R393W|PRKD2_uc002pfj.2_Missense_Mutation_p.R393W|PRKD2_uc010xye.1_Missense_Mutation_p.R393W|PRKD2_uc002pfk.2_Missense_Mutation_p.R236W	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	393					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CTGGATTTCCGCGTCGTGTGT	0.483													A	47201052	G	A	47201052	3	1	98	1	0	0	0	0	1	0	0	0	12519	1086	38	1	1503	1	PRKD2	19	47201052	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	73869	47201052	11927931	1581	65911											
ZC3H4	23211	broad.mit.edu	37	chr19	47570534	47570534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgcagggccgcgggcacGgggggcactgcgtcctgctt	18	12	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:47570534G>A	uc002pga.3	-	15	3029	c.2991C>T	c.(2989-2991)CCC>CCT	p.P997P	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	997							nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCGCGGGCACGGGGGGCACTG	0.736													A	47570534	G	A	47570534	2	1	98	1	0	0	0	0	0	0	0	1	17567	1103	39	1		1	ZC3H4	19	47570534	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	369482	47570534	11558449	1582	65912											
SLC8A2	6543	broad.mit.edu	37	chr19	47960734	47960734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctatgatgatgccgctgcGtgggtcggtgcggtagcgct	17	10	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:47960734G>A	uc002pgx.2	-	3	1071	c.793C>T	c.(793-795)CGC>TGC	p.R265C	SLC8A2_uc010xyq.1_Missense_Mutation_p.R21C|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.R265C	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	265	Calmodulin-binding (By similarity).|Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ATGCCGCTGCGTGGGTCGGTG	0.622													A	47960734	G	A	47960734	3	1	98	1	0	0	0	0	1	0	0	0	14707	1145	40	1	2004	1	SLC8A2	19	47960734	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	390200	47960734	11168249	1583	65913											
ZNF114	163071	broad.mit.edu	37	chr19	48789695	48789695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagatgcagttgtataccGcagagacaaacaagaaggat	11	7	0	3	rs147536572		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:48789695G>A	uc002pil.1	+	6	1311	c.814G>A	c.(814-816)GCA>ACA	p.A272T	ZNF114_uc010elv.1_Missense_Mutation_p.A272T|ZNF114_uc002pim.1_Missense_Mutation_p.A272T|ZNF114_uc002pin.2_Missense_Mutation_p.A238T	NM_153608	NP_705836	Q8NC26	ZN114_HUMAN	zinc finger protein 114	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		GTTGTATACCGCAGAGACAAA	0.448													A	48789695	G	A	48789695	3	1	98	1	0	0	0	0	1	0	0	0	17713	1087	38	1	824	1	ZNF114	19	48789695	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	828961	48789695	10339288	1584	65914											
KDELR1	10945	broad.mit.edu	37	chr19	48892969	48892969	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaggctatgtagaccacCtgaggagggggatgatgaga	17	6	0	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:48892969C>T	uc002pjb.1	-	3	388	c.193_splice	c.e3-1	p.V65_splice	KDELR1_uc002pja.1_Splice_Site_p.V3_splice	NM_006801	NP_006792	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum						intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity				0		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		TGTAGACCACCTGAGGAGGGG	0.552													T	48892969	C	T	48892969	5	4	98	1	0	0	0	0	0	0	1	0	8119	695	24	4	458	4	KDELR1	19	48892969	Splice_Site	SNP	C	TCGA-BR-8591-01A-11D-2394-08	103274	48892969	10236014	1585	65915											
RPL18	6141	broad.mit.edu	37	chr19	49120017	49120017	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgaacccgcacatcaTcagttatggtccccacaacc	5	18	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:49120017T>C	uc002pjq.1	-	4	296	c.263A>G	c.(262-264)GAT>GGT	p.D88G	RPL18_uc002pjp.1_Missense_Mutation_p.D36G|RPL18_uc010xzs.1_Missense_Mutation_p.D88G|SPHK2_uc002pjr.2_5'Flank|SPHK2_uc010xzt.1_5'Flank|SPHK2_uc002pjs.2_5'Flank	NM_000979	NP_000970	Q07020	RL18_HUMAN	ribosomal protein L18	88					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		CCGCACATCATCAGTTATGGT	0.488													C	49120017	T	C	49120017	3	2	98	1	0	0	0	0	1	0	0	0	13564	1435	50	3	319	3	RPL18	19	49120017	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	227048	49120017	10008966	1586	65916											
PPFIA3	8541	broad.mit.edu	37	chr19	49631308	49631308	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctacagcgcagctgcggCtgcgcgagctcggccacgag	16	14	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:49631308C>T	uc002pmr.2	+	2	510	c.178C>T	c.(178-180)CTG>TTG	p.L60L	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_5'Flank|PPFIA3_uc010yaj.1_5'Flank|PPFIA3_uc002pms.2_5'Flank	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	60	Potential.					cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GCAGCTGCGGCTGCGCGAGCT	0.726													T	49631308	C	T	49631308	2	4	98	1	0	0	0	0	0	0	0	1	12311	796	28	2		2	PPFIA3	19	49631308	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	511291	49631308	9497675	1587	65917											
TEAD2	8463	broad.mit.edu	37	chr19	49850473	49850474	+	Frame_Shift_Ins	INS	-	-	G													ttgaccaggaagaaggcatgINSgggggggccacgatcatata							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:49850472_49850473T>TG	uc002pnh.3	-	9	1001_1002	c.895_896A>CA	c.(895-897)catfs	p.H299fs	TEAD2_uc002png.3_Frame_Shift_Ins_p.H298fs|TEAD2_uc002pni.3_Frame_Shift_Ins_p.H298fs|TEAD2_uc002pnj.3_Frame_Shift_Ins_p.H295fs|TEAD2_uc010yao.2_Frame_Shift_Ins_p.H167fs|TEAD2_uc010emw.3_Frame_Shift_Ins_p.H298fs	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	Homo sapiens TEA domain family member 2 (TEAD2), mRNA.	295	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.H295fs*12(1)|p.L299P(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GAAGAAGGCATGGGGGGGGCCA	0.564													G	49850474	-	G	49850473	7	5	98	1	0	1	1	0	0	0	0	0	15736	1348	47	0	476	0	TEAD2	19	49850473	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	219165	49850473	9278510	1588	65918											
SLC17A7	57030	broad.mit.edu	37	chr19	49937128	49937129	+	Splice_Site	INS	-	-	G													gaagatcccgaagctgcctgINSggggggtcaggagggggatg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:49937127_49937128T>TG	uc002pnp.3	-	7	897	c.725_splice	c.e7-1	p.G242_splice	SLC17A7_uc002pnq.1_Intron|SLC17A7_uc002pno.3_Splice_Site	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	242					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CGAAGCTGCCTGGGGGGGTCAG	0.678													G	49937129	-	G	49937128	8	5	98	1	0	1	1	0	0	0	1	0	14422	1363	47	0		0	SLC17A7	19	49937128	Splice_Site	INS	-	TCGA-BR-8591-01A-11D-2394-08	86655	49937128	9191855	1589	65919											
PTOV1	53635	broad.mit.edu	37	chr19	50361197	50361197	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtcggtccaagaggtggCtgccatcccacgtctacgtg	12	13	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:50361197C>T	uc002pqf.1	+	8	1011	c.841C>T	c.(841-843)CTG>TTG	p.L281L	PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Silent_p.L249L|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	281	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CAAGAGGTGGCTGCCATCCCA	0.657													T	50361197	C	T	50361197	2	4	98	1	0	0	0	0	0	0	0	1	12769	796	28	2		2	PTOV1	19	50361197	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	424069	50361197	8767786	1590	65920											
NUP62	23636	broad.mit.edu	37	chr19	50412227	50412228	+	Missense_Mutation	DNP	TG	TG	CA													gctgctgctgctggtggtggTggcggtggcggtggcagcgg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:50412227_50412228TG>CA	uc002pqx.2	-	2	941_942	c.837_838CA>TG	c.(835-840)GCCACC>GCTGCC	p.T280A	IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.T280A|NUP62_uc002pqz.2_Missense_Mutation_p.T280A|NUP62_uc002pra.2_Missense_Mutation_p.T280A|NUP62_uc002prb.2_Missense_Mutation_p.T280A|NUP62_uc002prc.2_Intron	NM_153719	NP_714941	P37198	NUP62_HUMAN	nucleoporin 62kDa	280	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding				0		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ctggtggtggtggcggtggcgg	0.46													CA	50412228	TG	CA	50412227	3	2	98	1	0	0	0	0	1	0	0	0	10768	1696	59	3	734	3	NUP62	19	50412227	Missense_Mutation	DNP	TG	TCGA-BR-8591-01A-11D-2394-08	51030	50412227	8716756	1591	65921											
VRK3	51231	broad.mit.edu	37	chr19	50512565	50512565	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgagaagagggataatcGgggagaggtgacggtgctgg	19	4	1	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:50512565G>A	uc002prg.2	-	4	315	c.217C>T	c.(217-219)CGA>TGA	p.R73*	VRK3_uc002prh.1_Nonsense_Mutation_p.R73*|VRK3_uc002pri.1_Intron|VRK3_uc010ens.2_Nonsense_Mutation_p.R73*|VRK3_uc010ybl.1_Intron|VRK3_uc010ybm.1_Intron|VRK3_uc002prj.1_Intron|VRK3_uc002prk.1_Nonsense_Mutation_p.R73*|VRK3_uc010ent.1_5'UTR|VRK3_uc002prl.2_Nonsense_Mutation_p.R73*|VRK3_uc010ybn.1_Nonsense_Mutation_p.R73*	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	vaccinia related kinase 3 isoform 1	73						nucleus	ATP binding|protein kinase activity			stomach(1)|skin(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		AGGGATAATCGGGGAGAGGTG	0.468													A	50512565	G	A	50512565	4	1	98	1	0	0	0	0	0	1	0	0	17218	1124	39	1	1251	1	VRK3	19	50512565	Nonsense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	100338	50512565	8616418	1592	65922											
POLD1	5424	broad.mit.edu	37	chr19	50905959	50905959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcgcattgcgcccttgCgcgtgctcagcttcgatatc	12	14	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:50905959C>T	uc002psb.3	+	8	987	c.931C>T	c.(931-933)CGC>TGC	p.R311C	POLD1_uc002psc.3_Missense_Mutation_p.R311C|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.R311C	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	311					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TGCGCCCTTGCGCGTGCTCAG	0.667								DNA_polymerases_(catalytic_subunits)					T	50905959	C	T	50905959	3	4	98	1	0	0	0	0	1	0	0	0	12190	768	27	1	957	1	POLD1	19	50905959	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	393394	50905959	8223024	1593	65923											
SPIB	6689	broad.mit.edu	37	chr19	50926122	50926122	+	Frame_Shift_Del	DEL	C	C	-													ggccccacctgtcccagccaCcccctatgaagccttcgacc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:50926121_50926121AC>A	uc002psd.3	+	3	191	c.166_166AC>A	c.(166-168)accfs	p.T56fs	SPIB_uc021uyc.1_Frame_Shift_Del_p.P36fs|SPIB_uc002pse.3_Frame_Shift_Del_p.T56fs|SPIB_uc010ycc.2_Intron	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Homo sapiens Spi-B transcription factor (Spi-1/PU.1 related) (SPIB), transcript variant 1, mRNA.	56	TAD2.				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TGTCCCAGCCACCCCCTATGA	0.657													-	50926122	C	-	50926122	7	5	98	1	0	1	0	1	0	0	0	0	15049	507	18	0	181	0	SPIB	19	50926122	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	20163	50926122	8202861	1594	65924											
MYBPC2	4606	broad.mit.edu	37	chr19	50954194	50954194	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaagctcaacttcctgggTgaggatgccccttcctcctt	9	15	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:50954194T>C	uc002psf.2	+	14	1630	c.1579_splice	c.e14+2	p.E527_splice		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type						cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ACTTCCTGGGTGAGGATGCCC	0.632													C	50954194	T	C	50954194	5	2	98	1	0	0	0	0	0	0	1	0	10012	1710	59	3	1635	3	MYBPC2	19	50954194	Splice_Site	SNP	T	TCGA-BR-8591-01A-11D-2394-08	28072	50954194	8174789	1595	65925											
SHANK1	50944	broad.mit.edu	37	chr19	51170817	51170817	+	Frame_Shift_Del	DEL	G	G	-													ttactccggggtgcggggccGggggctccgtccccagctgc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:51170817delG	uc002psx.1	-	22	4419	c.4400delC	c.(4399-4401)CCGfs	p.P1467fs	SHANK1_uc002psw.1_Frame_Shift_Del_p.P851fs	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1467					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTGCGGGGCCGGGGGCTCCGT	0.761													-	51170817	G	-	51170817	7	5	98	1	0	1	0	1	0	0	0	0	14264	1116	39	0	2093	0	SHANK1	19	51170817	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	216623	51170817	7958166	1596	65926											
KLK4	9622	broad.mit.edu	37	chr19	51412062	51412062	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcggcctcaagactgtgcAggcccagcccgatggtgtag	15	12	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:51412062A>G	uc002pua.1	-	3	248	c.248T>C	c.(247-249)CTG>CCG	p.L83P	KLK4_uc002pty.1_Missense_Mutation_p.L34P|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_5'UTR|KLK4_uc002puc.1_RNA|KLK4_uc010eoi.1_5'UTR|KLK4_uc002pud.1_5'UTR	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4 preproprotein	83	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		AAGACTGTGCAGGCCCAGCCC	0.502													G	51412062	A	G	51412062	3	3	98	1	0	0	0	0	1	0	0	0	8406	188	7	3	528	3	KLK4	19	51412062	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	241245	51412062	7716921	1597	65927											
KLK13	26085	broad.mit.edu	37	chr19	51561889	51561889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgacactcctcatctgagCgaagttggatgttggcacat	11	10	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:51561889C>T	uc002pvn.2	-	4	594	c.551G>A	c.(550-552)CGC>CAC	p.R184H	KLK13_uc002pvl.2_RNA|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_RNA|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Missense_Mutation_p.R111H|KLK13_uc002pvq.2_RNA|KLK13_uc010eoo.2_Missense_Mutation_p.R32H	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	kallikrein 13 precursor	184	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		CTCATCTGAGCGAAGTTGGAT	0.488													T	51561889	C	T	51561889	3	4	98	1	0	0	0	0	1	0	0	0	8401	768	27	1	290	1	KLK13	19	51561889	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	149827	51561889	7567094	1598	65928											
HAS1	3036	broad.mit.edu	37	chr19	52216727	52216727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccgccggcaaagcctccGcacgcccacccagtacagcg	10	21	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:52216727G>A	uc002pxo.1	-	5	1725	c.1690C>T	c.(1690-1692)CGG>TGG	p.R564W	HAS1_uc010epc.1_Missense_Mutation_p.R164W|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxn.1_Missense_Mutation_p.R571W|HAS1_uc002pxp.1_Missense_Mutation_p.R563W	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	564	Extracellular (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CAAAGCCTCCGCACGCCCACC	0.721													A	52216727	G	A	52216727	3	1	98	1	0	0	0	0	1	0	0	0	6961	1086	38	1	50	1	HAS1	19	52216727	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	654838	52216727	6912256	1599	65929											
FPR1	2357	broad.mit.edu	37	chr19	52249490	52249490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacctgatatggggaccagCagagaaaaaaggctgctgcg	13	10	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:52249490C>T	uc002pxq.2	-	2	853	c.758G>A	c.(757-759)TGC>TAC	p.C253Y		NM_002029	NP_002020	P21462	FPR1_HUMAN	formyl peptide receptor 1	253	Helical; Name=6; (Potential).				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			ovary(1)|lung(1)|skin(1)	3		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	TGGGGACCAGCAGAGAAAAAA	0.483													T	52249490	C	T	52249490	3	4	98	1	0	0	0	0	1	0	0	0	6038	710	25	2	298	2	FPR1	19	52249490	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	32763	52249490	6879493	1600	65930											
ZNF836	162962	broad.mit.edu	37	chr19	52660033	52660033	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacattcattacatttgtaCggtttctctccagtgtgact	6	11	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:52660033C>T	uc010ydi.1	-	5	1277	c.903G>A	c.(901-903)CCG>CCA	p.P301P	ZNF836_uc010ydj.1_Silent_p.P301P	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TACATTTGTACGGTTTCTCTC	0.388													T	52660033	C	T	52660033	2	4	98	1	0	0	0	0	0	0	0	1	18184	523	19	1		1	ZNF836	19	52660033	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	410543	52660033	6468950	1601	65931											
ZNF83	55769	broad.mit.edu	37	chr19	53117419	53117419	+	Frame_Shift_Del	DEL	T	T	-													tgatgacttgcaaggtttgaTtttttattgaagatcttgcc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:53117418_53117418AT>A	uc002pzu.4	-	1	1644	c.400_400AT>T	c.(400-402)tcafs	p.S134fs	ZNF83_uc002pzv.4_Frame_Shift_Del_p.S134fs|ZNF83_uc010eps.3_Frame_Shift_Del_p.S134fs|ZNF83_uc010ept.3_Frame_Shift_Del_p.S134fs|ZNF83_uc010epu.3_Frame_Shift_Del_p.S134fs|ZNF83_uc010epw.3_Frame_Shift_Del_p.S134fs|ZNF83_uc010epv.3_Frame_Shift_Del_p.S134fs|ZNF83_uc010epx.3_Frame_Shift_Del_p.S134fs|ZNF83_uc010epy.3_Frame_Shift_Del_p.S134fs|ZNF83_uc010epz.3_Frame_Shift_Del_p.S134fs|ZNF83_uc010eqb.2_Frame_Shift_Del_p.S134fs|ZNF83_uc021uyx.1_Frame_Shift_Del_p.S134fs	NM_018300	NP_060770	P51522	ZNF83_HUMAN	Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA.	134						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		GCAAGGTTTGATTTTTTATTG	0.343													-	53117419	T	-	53117419	7	5	98	1	0	1	0	1	0	0	0	0	18180	1490	52	0	1155	0	ZNF83	19	53117419	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	457386	53117419	6011564	1602	65932											
ZNF347	84671	broad.mit.edu	37	chr19	53645115	53645115	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttcgactaaagaccttaccAcactcattacatttgtaacg	4	11	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:53645115A>T	uc002qbb.1	-	5	1035	c.966T>A	c.(964-966)TGT>TGA	p.C322*	ZNF347_uc010eql.1_Nonsense_Mutation_p.C323*|ZNF347_uc002qbc.1_Nonsense_Mutation_p.C323*	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	322	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		AGACCTTACCACACTCATTAC	0.393													T	53645115	A	T	53645115	4	4	98	1	0	0	0	0	0	1	0	0	17858	157	6	5	1557	5	ZNF347	19	53645115	Nonsense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	527696	53645115	5483868	1603	65933											
ZNF331	55422	broad.mit.edu	37	chr19	54081131	54081131	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagtggggcgaaatcctaCgaatgtaaggagtgcgggaa	15	7	0	0	rs144369706	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:54081131C>T	uc002qbx.1	+	7	2751	c.1317C>T	c.(1315-1317)TAC>TAT	p.Y439Y	ZNF331_uc002qby.1_Silent_p.Y439Y|ZNF331_uc002qbz.1_Silent_p.Y439Y|ZNF331_uc002qca.1_Silent_p.Y439Y|ZNF331_uc010eqr.1_Silent_p.Y439Y|ZNF331_uc002qcb.1_Silent_p.Y439Y|ZNF331_uc002qcc.1_Silent_p.Y439Y|ZNF331_uc002qcd.1_Silent_p.Y439Y	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	439	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6				GBM - Glioblastoma multiforme(134;0.00555)		CGAAATCCTACGAATGTAAGG	0.473			T	?	follicular thyroid adenoma								T	54081131	C	T	54081131	2	4	98	1	0	0	0	0	0	0	0	1	17846	547	19	1		1	ZNF331	19	54081131	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	436016	54081131	5047852	1604	65934											
CACNG7	59284	broad.mit.edu	37	chr19	54418710	54418710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatcggccacatccgcccGcagaggaccattctggcttt	9	15	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:54418710G>A	uc002qcr.1	+	3	390	c.375G>A	c.(373-375)CCG>CCA	p.P125P	CACNG7_uc010era.1_Silent_p.P125P	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	125					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		ACATCCGCCCGCAGAGGACCA	0.572													A	54418710	G	A	54418710	2	1	98	1	0	0	0	0	0	0	0	1	2562	1074	38	1		1	CACNG7	19	54418710	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	337579	54418710	4710273	1605	65935											
CACNG7	59284	broad.mit.edu	37	chr19	54444871	54444871	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcctactcaaagaggTgacgtccgtgggacctagac	10	13	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:54444871T>C	uc002qcr.1	+	4	585	c.570_splice	c.e4+2	p.E190_splice	CACNG7_uc010era.1_Missense_Mutation_p.V191A	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7						regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CTCAAAGAGGTGACGTCCGTG	0.433													C	54444871	T	C	54444871	5	2	98	1	0	0	0	0	0	0	1	0	2562	1710	59	3	586	3	CACNG7	19	54444871	Splice_Site	SNP	T	TCGA-BR-8591-01A-11D-2394-08	26161	54444871	4684112	1606	65936											
LENG1	79165	broad.mit.edu	37	chr19	54660546	54660546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccttttcctttctgctgCgactgccttcatcaccgccg	6	18	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:54660546C>T	uc002qdm.2	-	3	543	c.530G>A	c.(529-531)CGC>CAC	p.R177H		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	177										ovary(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTTTCTGCTGCGACTGCCTTC	0.597													T	54660546	C	T	54660546	3	4	98	1	0	0	0	0	1	0	0	0	8723	768	27	1	272	1	LENG1	19	54660546	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	215675	54660546	4468437	1607	65937											
MBOAT7	79143	broad.mit.edu	37	chr19	54677813	54677813	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccggctggggctgcccccAcctaaagccagccccagccc	11	21	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:54677813A>G	uc002qdq.2	-	9	1610	c.1344T>C	c.(1342-1344)GGT>GGC	p.G448G	TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Silent_p.G132G|MBOAT7_uc010yem.1_Silent_p.G430G|MBOAT7_uc002qdr.2_Silent_p.G448G|MBOAT7_uc002qds.2_Silent_p.G375G|MBOAT7_uc010yen.1_Silent_p.G375G	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain	448	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGCTGCCCCCACCTAAAGCCA	0.662													G	54677813	A	G	54677813	2	3	98	1	0	0	0	0	0	0	0	1	9358	146	6	3		3	MBOAT7	19	54677813	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	17267	54677813	4451170	1608	65938											
LILRA6	79168	broad.mit.edu	37	chr19	54744364	54744364	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaaagtgtcaaaataaccCcgtgactgacacagcagggt	11	9	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:54744364C>A	uc002qeu.1	-	6	1168	c.1044G>T	c.(1042-1044)CGG>CGT	p.R348R	LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Silent_p.R348R|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Silent_p.R348R|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Silent_p.R348R|LILRA6_uc010yeq.1_Silent_p.R348R|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Silent_p.R209R	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor,	348	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane	receptor activity			skin(2)	2	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAAAATAACCCCGTGACTGAC	0.552													A	54744364	C	A	54744364	2	1	98	1	0	0	0	0	0	0	0	1	8789	610	22	5		5	LILRA6	19	54744364	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	66551	54744364	4384619	1609	65939											
TTYH1	57348	broad.mit.edu	37	chr19	54947281	54947281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctagcaggaatccaagcGctttgtgcagtggcagtcgt	12	11	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:54947281G>A	uc002qfq.2	+	13	1417	c.1325G>A	c.(1324-1326)CGC>CAC	p.R442H	TTYH1_uc010yey.1_3'UTR|TTYH1_uc002qfr.2_Missense_Mutation_p.A427T|TTYH1_uc002qft.2_Missense_Mutation_p.R443H	NM_020659	NP_065710	Q9H313	TTYH1_HUMAN	tweety 1 isoform 1	442	Cytoplasmic (Potential).				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GAATCCAAGCGCTTTGTGCAG	0.547													A	54947281	G	A	54947281	3	1	98	1	0	0	0	0	1	0	0	0	16736	1087	38	1	1375	1	TTYH1	19	54947281	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	202917	54947281	4181702	1610	65940											
NLRP7	199713	broad.mit.edu	37	chr19	55451098	55451098	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacaatccagcacaccgcGggggccgagcccagctggaa	12	16	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:55451098G>A	uc002qih.3	-	4	1165	c.1089C>T	c.(1087-1089)CCC>CCT	p.P363P	NLRP7_uc002qig.3_Silent_p.P363P|NLRP7_uc002qii.3_Silent_p.P363P|NLRP7_uc010esk.2_Silent_p.P363P|NLRP7_uc010esl.2_Silent_p.P391P	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	363	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		AGCACACCGCGGGGGCCGAGC	0.632													A	55451098	G	A	55451098	2	1	98	1	0	0	0	0	0	0	0	1	10482	1103	39	1		1	NLRP7	19	55451098	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	503817	55451098	3677885	1611	65941											
RDH13	112724	broad.mit.edu	37	chr19	55568112	55568112	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgattgagggtctccccGcggatgtcctttgctgccgc	14	12	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:55568112G>A	uc002qio.3	-	3	434	c.249C>T	c.(247-249)CGC>CGT	p.R83R	RDH13_uc002qip.2_Silent_p.R12R|RDH13_uc010yfq.1_RNA|RDH13_uc010esr.1_5'Flank	NM_001145971	NP_001139443	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 isoform 1	83							binding|oxidoreductase activity			large_intestine(1)|ovary(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	GGGTCTCCCCGCGGATGTCCT	0.413													A	55568112	G	A	55568112	2	1	98	1	0	0	0	0	0	0	0	1	13192	1074	38	1		1	RDH13	19	55568112	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	117014	55568112	3560871	1612	65942											
EPS8L1	54869	broad.mit.edu	37	chr19	55597445	55597445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtcctggatgacagtcGtaagtggtggaaggttcggg	17	7	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:55597445G>A	uc002qis.3	+	16	1639	c.1535G>A	c.(1534-1536)CGT>CAT	p.R512H	EPS8L1_uc010ess.1_Missense_Mutation_p.R526H|EPS8L1_uc010yfr.1_Missense_Mutation_p.R448H|EPS8L1_uc002qiu.2_Missense_Mutation_p.R385H|EPS8L1_uc002qiv.2_Missense_Mutation_p.R190H|EPS8L1_uc002qiw.2_Missense_Mutation_p.R291H	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	epidermal growth factor receptor pathway	512	SH3.					cytoplasm					0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GATGACAGTCGTAAGTGGTGG	0.612													A	55597445	G	A	55597445	3	1	98	1	0	0	0	0	1	0	0	0	5195	1145	40	1	1645	1	EPS8L1	19	55597445	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	29333	55597445	3531538	1613	65943											
NLRP9	338321	broad.mit.edu	37	chr19	56223313	56223313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatgtcgtcgcagcaggcaCgggtgatcggacacgtttgc	15	11	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:56223313C>T	uc002qly.2	-	8	2724	c.2696G>A	c.(2695-2697)CGT>CAT	p.R899H		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	899	LRR 6.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GCAGCAGGCACGGGTGATCGG	0.552													T	56223313	C	T	56223313	3	4	98	1	0	0	0	0	1	0	0	0	10484	536	19	1	287	1	NLRP9	19	56223313	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	625868	56223313	2905670	1614	65944											
NLRP11	204801	broad.mit.edu	37	chr19	56321601	56321601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtatgtagaacacatctgaCgaaacgtcacgaaaaaattt	7	7	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:56321601C>T	uc010ygf.1	-	5	1086	c.375G>A	c.(373-375)TCG>TCA	p.S125S	NLRP11_uc002qlz.2_Silent_p.S26S|NLRP11_uc002qmb.2_Silent_p.S26S|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	125							ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACACATCTGACGAAACGTCAC	0.383													T	56321601	C	T	56321601	2	4	98	1	0	0	0	0	0	0	0	1	10473	523	19	1		1	NLRP11	19	56321601	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	98288	56321601	2807382	1615	65945											
ZSCAN5A	79149	broad.mit.edu	37	chr19	56733224	56733224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctctcgccagtgtgggttCgctggtgaaattggaggcta	15	9	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:56733224C>T	uc002qmq.2	-	5	1377	c.1211G>A	c.(1210-1212)CGA>CAA	p.R404Q	ZSCAN5A_uc010ygi.1_Missense_Mutation_p.R287Q|ZSCAN5A_uc002qmr.2_Missense_Mutation_p.R404Q|ZSCAN5A_uc002qms.1_Missense_Mutation_p.R403Q	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	404	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						AGTGTGGGTTCGCTGGTGAAA	0.517													T	56733224	C	T	56733224	3	4	98	1	0	0	0	0	1	0	0	0	18235	884	31	1	283	1	ZSCAN5A	19	56733224	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	411623	56733224	2395759	1616	65946											
ZNF835	90485	broad.mit.edu	37	chr19	57176222	57176222	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtagctgaaggccttcccGcagtccccgcatttccacgg	10	16	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:57176222G>A	uc010ygo.1	-	2	411	c.411C>T	c.(409-411)TGC>TGT	p.C137C	ZNF835_uc010ygn.1_Silent_p.C115C	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						AGGCCTTCCCGCAGTCCCCGC	0.642													A	57176222	G	A	57176222	2	1	98	1	0	0	0	0	0	0	0	1	18183	1079	38	1		1	ZNF835	19	57176222	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	442998	57176222	1952761	1617	65947											
ZNF549	256051	broad.mit.edu	37	chr19	58049657	58049657	+	Frame_Shift_Del	DEL	A	A	-													gtgggaaggccttcattcacAaaaaaagacttcttgagcac							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:58049656_58049656CA>C	uc002qpb.2	+	3	1533	c.1284_1284CA>C	c.(1282-1284)cacfs	p.H428fs	ZNF549_uc002qpa.2_Frame_Shift_Del_p.H415fs	NM_001199295	NP_001186224	Q6P9A3	ZN549_HUMAN	Homo sapiens zinc finger protein 549 (ZNF549), transcript variant 1, mRNA.	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCTTCATTCACAAAAAAAGAC	0.418													-	58049657	A	-	58049657	7	5	98	1	0	1	0	1	0	0	0	0	17978	131	5	0	1256	0	ZNF549	19	58049657	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	873435	58049657	1079326	1618	65948											
ZNF530	348327	broad.mit.edu	37	chr19	58115649	58115649	+	Frame_Shift_Del	DEL	T	T	-													actgtccccatcatagcaggTttttgtagcctttgaggatg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:58115648_58115648GT>G	uc002qpk.2	+	1	254	c.34_34GT>G	c.(34-36)gttfs	p.V12fs	ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_5'Flank	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	Homo sapiens zinc finger protein 530 (ZNF530), mRNA.	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATCATAGCAGGTTTTTGTAGC	0.532													-	58115649	T	-	58115649	7	5	98	1	0	1	0	1	0	0	0	0	17968	1725	60	0	41	0	ZNF530	19	58115649	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	65992	58115649	1013334	1619	65949											
ZNF418	147686	broad.mit.edu	37	chr19	58438212	58438212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctttctccagtgtggcttCgctgatgctgaatgaggttg	13	9	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:58438212C>T	uc002qqs.1	-	4	1629	c.1337G>A	c.(1336-1338)CGA>CAA	p.R446Q	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.R361Q	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	446	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		AGTGTGGCTTCGCTGATGCTG	0.473													T	58438212	C	T	58438212	3	4	98	1	0	0	0	0	1	0	0	0	17892	884	31	1	697	1	ZNF418	19	58438212	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	322563	58438212	690771	1620	65950											
ZNF256	10172	broad.mit.edu	37	chr19	58453320	58453320	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactccagtgtgaattcttcGgtgcgtaataaggctagagc	11	8	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:58453320G>A	uc002qqu.2	-	3	1091	c.856C>T	c.(856-858)CGA>TGA	p.R286*	ZNF256_uc010euj.2_Nonsense_Mutation_p.R133*	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	286	C2H2-type 3.				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TGAATTCTTCGGTGCGTAATA	0.393													A	58453320	G	A	58453320	4	1	98	1	0	0	0	0	0	1	0	0	17796	1124	39	1	1031	1	ZNF256	19	58453320	Nonsense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	15108	58453320	675663	1621	65951											
ZNF274	10782	broad.mit.edu	37	chr19	58718166	58718166	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaacattgaggttgttgaGgtcctcacactgaaccagga	11	8	1	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:58718166G>T	uc002qrq.1	+	5	795	c.336G>T	c.(334-336)GAG>GAT	p.E112D	ZNF274_uc010yhu.1_RNA|ZNF274_uc010yhv.1_RNA|ZNF274_uc002qrr.1_Missense_Mutation_p.E80D|ZNF274_uc002qrs.1_Missense_Mutation_p.E7D|ZNF274_uc010eum.1_Translation_Start_Site	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	zinc finger protein 274 isoform c	112					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		AGGTTGTTGAGGTCCTCACAC	0.537													T	58718166	G	T	58718166	3	4	98	1	0	0	0	0	1	0	0	0	17806	991	35	5	350	5	ZNF274	19	58718166	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	264846	58718166	410817	1622	65952											
ZNF8	7554	broad.mit.edu	37	chr19	58805539	58805539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggagccatcccatgtcaCgggaagggaaggattcccga	14	10	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:58805539C>T	uc002qry.1	+	4	495	c.365C>T	c.(364-366)ACG>ATG	p.T122M	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		TCCCATGTCACGGGAAGGGAA	0.542													T	58805539	C	T	58805539	3	4	98	1	0	0	0	0	1	0	0	0	18164	536	19	1	379	1	ZNF8	19	58805539	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	87373	58805539	323444	1623	65953											
PANK2	80025	broad.mit.edu	37	chr20	3891416	3891416	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctggtgaacattggcTcaggggttagcatcttagca	12	8	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:3891416T>G	uc002wkc.2	+	3	1180	c.1174T>G	c.(1174-1176)TCA>GCA	p.S392A	PANK2_uc002wkb.2_Missense_Mutation_p.S101A|PANK2_uc010gbd.1_RNA|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_Missense_Mutation_p.S101A|PANK2_uc002wkf.2_5'UTR	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2 isoform 1 preproprotein	392					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding				0						GAACATTGGCTCAGGGGTTAG	0.368													G	3891416	T	G	3891416	3	3	98	1	0	0	0	0	1	0	0	0	11417	1551	54	5	1184	5	PANK2	20	3891416	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08		3891416	59134104	1624	65954											
SLC23A2	9962	broad.mit.edu	37	chr20	4913236	4913236	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgagtagtttacacagccGttggggagagcagctggaag	15	7	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:4913236G>A	uc002wlg.1	-	3	348	c.-27C>T	c.(-29--25)AACGG>AATGG		SLC23A2_uc010zqr.1_Translation_Start_Site|SLC23A2_uc002wlh.1_Translation_Start_Site|SLC23A2_uc002wli.2_Translation_Start_Site|SLC23A2_uc002wlj.1_RNA	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase						L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2						TTACACAGCCGTTGGGGAGAG	0.488													A	4913236	G	A	4913236	1	1	98	1	0	0	0	0	0	0	0	0	14463	1160	40	1		1	SLC23A2	20	4913236	Translation_Start_Site	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1021820	4913236	58112284	1625	65955											
PAK7	57144	broad.mit.edu	37	chr20	9561247	9561247	+	Frame_Shift_Del	DEL	C	C	-													cacctcagaatagtaggcctCcccgtgcttcattttcatta							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:9561246_9561246TC>T	uc002wnl.2	-	4	1081	c.536_536GA>A	c.(535-537)gagfs	p.E179fs	PAK7_uc002wnk.2_Frame_Shift_Del_p.E179fs|PAK7_uc002wnj.2_Frame_Shift_Del_p.E179fs|PAK7_uc010gby.1_Frame_Shift_Del_p.E179fs	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	179	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATAGTAGGCCTCCCCGTGCTT	0.458													-	9561247	C	-	9561247	7	5	98	1	0	1	0	1	0	0	0	0	11405	864	30	0	1652	0	PAK7	20	9561247	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	4648011	9561247	53464273	1626	65956											
JAG1	182	broad.mit.edu	37	chr20	10620514	10620514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtggctgcccggcttccGccgcttccgcaggcaccagt	13	16	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:10620514G>A	uc002wnw.2	-	26	3805	c.3289C>T	c.(3289-3291)CGG>TGG	p.R1097W		NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	1097	Cytoplasmic (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						CCCGGCTTCCGCCGCTTCCGC	0.552									Alagille_Syndrome				A	10620514	G	A	10620514	3	1	98	1	0	0	0	0	1	0	0	0	7934	1086	38	1	371	1	JAG1	20	10620514	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1059267	10620514	52405006	1627	65957											
SPTLC3	55304	broad.mit.edu	37	chr20	13074181	13074181	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacatcgcttgtgcttggGgcccgactctcaggtgcaac	11	14	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:13074181G>A	uc002wod.1	+	6	1072	c.783G>A	c.(781-783)GGG>GGA	p.G261G		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	261					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)	TTGTGCTTGGGGCCCGACTCT	0.413													A	13074181	G	A	13074181	2	1	98	1	0	0	0	0	0	0	0	1	15124	1219	43	4		4	SPTLC3	20	13074181	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2453667	13074181	49951339	1628	65958											
ISM1	140862	broad.mit.edu	37	chr20	13279946	13279946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagcaccgagttctccgCggagctccactacaaggtgg	11	14	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:13279946C>T	uc010gce.1	+	6	1241	c.1235C>T	c.(1234-1236)GCG>GTG	p.A412V	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	412	AMOP.					extracellular region					0						GAGTTCTCCGCGGAGCTCCAC	0.627													T	13279946	C	T	13279946	3	4	98	1	0	0	0	0	1	0	0	0	7860	768	27	1	1257	1	ISM1	20	13279946	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	205765	13279946	49745574	1629	65959											
ESF1	51575	broad.mit.edu	37	chr20	13752052	13752052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattttactagctgtttccGgagaatcacagtctactact	6	9	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:13752052G>A	uc002woj.2	-	6	1436	c.1328C>T	c.(1327-1329)CCG>CTG	p.P443L	ESF1_uc002wok.1_Missense_Mutation_p.P443L	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1						AGCTGTTTCCGGAGAATCACA	0.338													A	13752052	G	A	13752052	3	1	98	1	0	0	0	0	1	0	0	0	5251	1116	39	1	1263	1	ESF1	20	13752052	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	472106	13752052	49273468	1630	65960											
KIF16B	55614	broad.mit.edu	37	chr20	16493497	16493497	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagttcgaaaagaagcttcAtcccatctggtggtttcatt	8	9	4	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:16493497A>G	uc002wpg.1	-	5	578	c.420T>C	c.(418-420)GAT>GAC	p.D140D	KIF16B_uc010gch.1_Silent_p.D140D|KIF16B_uc010gci.1_Silent_p.D140D|KIF16B_uc010gcj.1_Silent_p.D140D	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	140	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						AAGAAGCTTCATCCCATCTGG	0.488													G	16493497	A	G	16493497	2	3	98	1	0	0	0	0	0	0	0	1	8278	214	8	3		3	KIF16B	20	16493497	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	2741445	16493497	46532023	1631	65961											
BFSP1	631	broad.mit.edu	37	chr20	17479498	17479498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgatgatacgatgatacCggtccagctcattcttcagg	9	11	4	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:17479498C>T	uc002wpo.2	-	6	962	c.923G>A	c.(922-924)CGG>CAG	p.R308Q	BFSP1_uc002wpp.2_Missense_Mutation_p.R183Q|BFSP1_uc010zrn.1_Missense_Mutation_p.R169Q|BFSP1_uc010zro.1_Missense_Mutation_p.R169Q	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	filensin isoform 1	308	Rod.|Coil 2.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)	1						ACGATGATACCGGTCCAGCTC	0.473													T	17479498	C	T	17479498	3	4	98	1	0	0	0	0	1	0	0	0	1415	652	23	1	1086	1	BFSP1	20	17479498	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	986001	17479498	45546022	1632	65962											
PYGB	5834	broad.mit.edu	37	chr20	25262728	25262728	+	Frame_Shift_Del	DEL	C	C	-													gaataagaccaatggcatcaCcccccgccggtggctgctgc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:25262727_25262727AC>A	uc002wup.3	+	11	1571	c.1462_1462AC>A	c.(1462-1464)accfs	p.T488fs		NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	488					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CAATGGCATCACCCCCCGCCG	0.582													-	25262728	C	-	25262728	7	5	98	1	0	1	0	1	0	0	0	0	12860	507	18	0	1509	0	PYGB	20	25262728	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	7783230	25262728	37762792	1633	65963											
NINL	22981	broad.mit.edu	37	chr20	25434176	25434176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcggctttgtttctcggCgcctcgctgcttctcctcgg	13	14	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:25434176C>T	uc002wux.1	-	24	4134	c.4060G>A	c.(4060-4062)GCC>ACC	p.A1354T	NINL_uc010gdn.1_Missense_Mutation_p.A1005T|NINL_uc002wuw.1_Missense_Mutation_p.A145T	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	1354	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						TGTTTCTCGGCGCCTCGCTGC	0.547													T	25434176	C	T	25434176	3	4	98	1	0	0	0	0	1	0	0	0	10420	768	27	1	92	1	NINL	20	25434176	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	171448	25434176	37591344	1634	65964											
PLAGL2	5326	broad.mit.edu	37	chr20	30784819	30784819	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccagggagtgtggcacGcccgtgctgggcatggtagg	18	10	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:30784819G>A	uc002wxn.2	-	3	1144	c.927C>T	c.(925-927)GGC>GGT	p.G309G		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	309						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGTGTGGCACGCCCGTGCTGG	0.597													A	30784819	G	A	30784819	2	1	98	1	0	0	0	0	0	0	0	1	12020	1074	38	1		1	PLAGL2	20	30784819	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	5350643	30784819	32240701	1635	65965											
FAM83C	128876	broad.mit.edu	37	chr20	33876762	33876762	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccatcaccacagccaccacCtgggtggggggaggcacacg	13	15	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:33876762C>A	uc010zux.1	-	2	632	c.514_splice	c.e2-1	p.V172_splice	FAM83C_uc002xcb.1_Splice_Site	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876											ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAGCCACCACCTGGGTGGGGG	0.612													A	33876762	C	A	33876762	5	1	98	1	0	0	0	0	0	0	1	0	5635	695	24	5	1742	5	FAM83C	20	33876762	Splice_Site	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3091943	33876762	29148758	1636	65966											
GDF5	8200	broad.mit.edu	37	chr20	34022054	34022054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgggtcgcttgccctggcGagtggccagtggggcccgcc	18	14	0	0	rs139413270		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:34022054G>A	uc002xck.1	-	2	1478	c.1159C>T	c.(1159-1161)CGC>TGC	p.R387C	GDF5_uc010gfc.1_Missense_Mutation_p.R387C|uc002xcj.2_Silent_p.A155A|GDF5_uc010zvc.1_Missense_Mutation_p.R387C	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	387					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TTGCCCTGGCGAGTGGCCAGT	0.582													A	34022054	G	A	34022054	3	1	98	1	0	0	0	0	1	0	0	0	6316	1058	37	1	350	1	GDF5	20	34022054	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	145292	34022054	29003466	1637	65967											
CEP250	11190	broad.mit.edu	37	chr20	34078523	34078524	+	Frame_Shift_Ins	INS	-	-	A													tctggagagcttagaaagggINSaaaaaatggagctggaaatg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:34078523_34078524insA	uc002xcm.2	+	22	3318_3319	c.2647_2648insA	c.(2647-2649)GAAfs	p.E883fs	CEP250_uc010zve.1_Frame_Shift_Ins_p.E251fs	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	883	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTTAGAAAGGGAAAAAATGGAG	0.525													A	34078524	-	A	34078523	7	5	98	1	0	1	1	0	0	0	0	0	3252	1175	41	0	2717	0	CEP250	20	34078523	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	56469	34078523	28946997	1638	65968	309	2									
CEP250	11190	broad.mit.edu	37	chr20	34078524	34078525	+	Frame_Shift_Ins	INS	-	-	A													ctggagagcttagaaagggaINSaaaaatggagctggaaatga							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:34078523_34078524G>GA	uc021wco.1	+	20	3294_3295	c.2647_2648G>GA	c.(2647-2649)gaafs	p.E883fs	CEP250_uc010zve.2_Frame_Shift_Ins_p.E251fs	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	883	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTTAGAAAGGGAAAAAATGGAG	0.545													A	34078525	-	A	34078524	7	5	98	1	0	1	1	0	0	0	0	0	3252	246	9	0	2718	0	CEP250	20	34078524	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	1	34078524	28946996	1639	65969	309	2									
CEP250	11190	broad.mit.edu	37	chr20	34091729	34091729	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaggcagacgccctccaGggagctctggagcaagccca	13	13	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:34091729G>T	uc002xcm.2	+	31	6203	c.5532G>T	c.(5530-5532)CAG>CAT	p.Q1844H	CEP250_uc010zve.1_Missense_Mutation_p.Q1212H	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	1844	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ACGCCCTCCAGGGAGCTCTGG	0.607													T	34091729	G	T	34091729	3	4	98	1	0	0	0	0	1	0	0	0	3252	991	35	5	5638	5	CEP250	20	34091729	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	13205	34091729	28933791	1640	65970											
CPNE1	8904	broad.mit.edu	37	chr20	34218375	34218375	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttacctgcacagtaggggTtactggggttgaaattcaag	12	7	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:34218375T>C	uc002xdf.2	-	15	1451	c.1088A>G	c.(1087-1089)AAC>AGC	p.N363S	CPNE1_uc002xdc.2_Missense_Mutation_p.N25S|CPNE1_uc010zvj.1_Missense_Mutation_p.N368S|CPNE1_uc002xde.2_Missense_Mutation_p.N339S|CPNE1_uc002xdg.2_Missense_Mutation_p.N363S|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.N363S|CPNE1_uc002xdi.2_Missense_Mutation_p.N363S|CPNE1_uc002xdj.2_Missense_Mutation_p.N363S|CPNE1_uc002xdk.2_Missense_Mutation_p.N363S|CPNE1_uc002xdl.2_Missense_Mutation_p.N363S|CPNE1_uc002xdm.2_Missense_Mutation_p.N363S	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	363	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ACAGTAGGGGTTACTGGGGTT	0.493													C	34218375	T	C	34218375	3	2	98	1	0	0	0	0	1	0	0	0	3811	1725	60	3	541	3	CPNE1	20	34218375	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	126646	34218375	28807145	1641	65971											
DLGAP4	22839	broad.mit.edu	37	chr20	35064647	35064647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatgggcgacgaggacagcGacgagtccggcggcagcccc	16	15	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:35064647G>A	uc002xff.2	+	4	1570	c.1135G>A	c.(1135-1137)GAC>AAC	p.D379N	DLGAP4_uc010zvp.1_Missense_Mutation_p.D379N	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	379					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGAGGACAGCGACGAGTCCGG	0.716													A	35064647	G	A	35064647	3	1	98	1	0	0	0	0	1	0	0	0	4562	1058	37	1	1141	1	DLGAP4	20	35064647	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	846272	35064647	27960873	1642	65972											
VSTM2L	128434	broad.mit.edu	37	chr20	36560064	36560064	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagagacaccccatgacaTgacagcacggacgggcgagg	13	13	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:36560064T>C	uc002xhk.3	+	2	403	c.149T>C	c.(148-150)ATG>ACG	p.M50T		NM_080607	NP_542174	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	50	Ig-like.									ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.00878)				CCCCATGACATGACAGCACGG	0.622													C	36560064	T	C	36560064	3	2	98	1	0	0	0	0	1	0	0	0	17227	1464	51	3	155	3	VSTM2L	20	36560064	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1495417	36560064	26465456	1643	65973											
KIAA0406	9675	broad.mit.edu	37	chr20	36631163	36631163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattctcatccactttgggaGggactgactgttcctctgga	10	11	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:36631163G>A	uc002xhl.2	-	5	2728	c.2519C>T	c.(2518-2520)CCT>CTT	p.P840L	KIAA0406_uc002xhm.2_Missense_Mutation_p.P840L	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	840							binding				0		Myeloproliferative disorder(115;0.00874)				CACTTTGGGAGGGACTGACTG	0.413													A	36631163	G	A	36631163	3	1	98	1	0	0	0	0	1	0	0	0	8173	1000	35	4	770	4	KIAA0406	20	36631163	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	71099	36631163	26394357	1644	65974											
SLC32A1	140679	broad.mit.edu	37	chr20	37356449	37356449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtccattatcgccacgGccgtgctgctgccttgcgcc	11	17	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:37356449G>A	uc002xjc.2	+	2	1008	c.745G>A	c.(745-747)GCC>ACC	p.A249T		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	249	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TATCGCCACGGCCGTGCTGCT	0.572													A	37356449	G	A	37356449	3	1	98	1	0	0	0	0	1	0	0	0	14565	1203	42	2	751	2	SLC32A1	20	37356449	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	725286	37356449	25669071	1645	65975											
PLCG1	5335	broad.mit.edu	37	chr20	39794342	39794342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggaagctaggggcagggCgtgacgggcgtcacatcgct	18	9	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:39794342C>T	uc002xjp.1	+	16	1796	c.1675C>T	c.(1675-1677)CGT>TGT	p.R559C	PLCG1_uc002xjo.1_Missense_Mutation_p.R559C|PLCG1_uc010zwe.1_Missense_Mutation_p.R185C|PLCG1_uc010ggf.2_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	559	SH2 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				AGGGGCAGGGCGTGACGGGCG	0.597													T	39794342	C	T	39794342	3	4	98	1	0	0	0	0	1	0	0	0	12035	768	27	1	1737	1	PLCG1	20	39794342	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2437893	39794342	23231178	1646	65976											
CHD6	84181	broad.mit.edu	37	chr20	40113207	40113207	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacatcatctttcagccgcCgaagcatcattggttttagg	8	12	4	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:40113207C>A	uc002xka.1	-	15	2220	c.2042G>T	c.(2041-2043)CGG>CTG	p.R681L	CHD6_uc002xkd.2_Missense_Mutation_p.R659L	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	681					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TTTCAGCCGCCGAAGCATCAT	0.453													A	40113207	C	A	40113207	3	1	98	1	0	0	0	0	1	0	0	0	3329	652	23	5	6197	5	CHD6	20	40113207	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	318865	40113207	22912313	1647	65977											
SLC12A5	57468	broad.mit.edu	37	chr20	44683557	44683557	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctctgtctgcccacagcaTgagagcgacatctcagctta	8	14	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:44683557T>C	uc010zxl.1	+	21	2827	c.2751T>C	c.(2749-2751)CAT>CAC	p.H917H	SLC12A5_uc002xrb.2_Silent_p.H894H	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	917	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCCACAGCATGAGAGCGACA	0.547													C	44683557	T	C	44683557	2	2	98	1	0	0	0	0	0	0	0	1	14386	1461	51	3		3	SLC12A5	20	44683557	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	4570350	44683557	18341963	1648	65978											
SLC35C2	51006	broad.mit.edu	37	chr20	44985238	44985238	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacggtgacatacaggaagcTccagttggacaagcccacgt	12	11	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:44985238T>A	uc002xro.2	-	4	851	c.310A>T	c.(310-312)AGC>TGC	p.S104C	SLC35C2_uc002xrp.2_Missense_Mutation_p.S104C|SLC35C2_uc002xrq.2_Missense_Mutation_p.S104C|SLC35C2_uc002xrr.2_Missense_Mutation_p.S104C|SLC35C2_uc010zxn.1_5'UTR|SLC35C2_uc010zxo.1_5'UTR|SLC35C2_uc010zxp.1_Missense_Mutation_p.S133C	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	solute carrier family 35, member C2 isoform a	104	Helical; (Potential).				transport	integral to membrane				ovary(1)	1		Myeloproliferative disorder(115;0.0122)				TACAGGAAGCTCCAGTTGGAC	0.607													A	44985238	T	A	44985238	3	1	98	1	0	0	0	0	1	0	0	0	14580	1551	54	5	815	5	SLC35C2	20	44985238	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	301681	44985238	18040282	1649	65979											
EYA2	2139	broad.mit.edu	37	chr20	45771717	45771717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaccacgacgtccgtgcGcattggccttatgatggaag	13	11	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:45771717G>A	uc002xsm.2	+	10	1282	c.908G>A	c.(907-909)CGC>CAC	p.R303H	EYA2_uc010ghp.2_Missense_Mutation_p.R303H|EYA2_uc002xsn.2_Missense_Mutation_p.R308H|EYA2_uc002xso.2_Missense_Mutation_p.R303H|EYA2_uc002xsp.2_Missense_Mutation_p.R303H|EYA2_uc002xsq.2_Intron	NM_005244	NP_005235	O00167	EYA2_HUMAN	eyes absent 2 isoform a	303					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0241)				ACGTCCGTGCGCATTGGCCTT	0.483													A	45771717	G	A	45771717	3	1	98	1	0	0	0	0	1	0	0	0	5329	1087	38	1	942	1	EYA2	20	45771717	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	786479	45771717	17253803	1650	65980											
MOCS3	27304	broad.mit.edu	37	chr20	49576097	49576097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagacagtgaccaactgcGcggacggcggggtgctcggt	18	11	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:49576097G>A	uc002xvy.1	+	1	735	c.718G>A	c.(718-720)GCG>ACG	p.A240T	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	240					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			skin(2)|ovary(1)	3						GACCAACTGCGCGGACGGCGG	0.627													A	49576097	G	A	49576097	3	1	98	1	0	0	0	0	1	0	0	0	9692	1087	38	1	720	1	MOCS3	20	49576097	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3804380	49576097	13449423	1651	65981											
NFATC2	4773	broad.mit.edu	37	chr20	50159027	50159027	+	Frame_Shift_Del	DEL	G	G	-													tcgggttggggctgccgctcGggggcgttcatggcgcgcag							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:50159027delG	uc002xwd.2	-	1	232	c.12delC	c.(10-12)CCCfs	p.P4fs	NFATC2_uc002xwc.2_Frame_Shift_Del_p.P4fs|NFATC2_uc010zyv.1_5'UTR|NFATC2_uc010zyw.1_5'UTR|NFATC2_uc010zyx.1_Intron|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Intron	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	4					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					GCTGCCGCTCGGGGGCGTTCA	0.612													-	50159027	G	-	50159027	7	5	98	1	0	1	0	1	0	0	0	0	10362	1103	39	0	2853	0	NFATC2	20	50159027	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	582930	50159027	12866493	1652	65982											
ATP9A	10079	broad.mit.edu	37	chr20	50221453	50221453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaggtctggatggtcagCgccaccatgagcagctcggt	14	12	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:50221453C>T	uc002xwg.1	-	27	2910	c.2910G>A	c.(2908-2910)GCG>GCA	p.A970A	ATP9A_uc010gih.1_Silent_p.A834A|ATP9A_uc002xwf.1_Silent_p.A142A	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	970	Helical; (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						GGATGGTCAGCGCCACCATGA	0.597													T	50221453	C	T	50221453	2	4	98	1	0	0	0	0	0	0	0	1	1198	755	27	1		1	ATP9A	20	50221453	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	62426	50221453	12804067	1653	65983											
ATP9A	10079	broad.mit.edu	37	chr20	50235213	50235213	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgcctacctactgcacaggTgagcttgcccgtgcgctcct	10	16	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:50235213T>C	uc002xwg.1	-	21	2338	c.2338A>G	c.(2338-2340)ACC>GCC	p.T780A	ATP9A_uc010gih.1_Missense_Mutation_p.T644A|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	780	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						ACTGCACAGGTGAGCTTGCCC	0.657													C	50235213	T	C	50235213	3	2	98	1	0	0	0	0	1	0	0	0	1198	1696	59	3	837	3	ATP9A	20	50235213	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	13760	50235213	12790307	1654	65984											
ATP9A	10079	broad.mit.edu	37	chr20	50273655	50273655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggaccttagtggtgagcGttgggcccttctgagccggt	16	11	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:50273655G>A	uc002xwg.1	-	14	1328	c.1328C>T	c.(1327-1329)ACG>ATG	p.T443M	ATP9A_uc010gih.1_Missense_Mutation_p.T307M|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	443	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						AGTGGTGAGCGTTGGGCCCTT	0.577													A	50273655	G	A	50273655	3	1	98	1	0	0	0	0	1	0	0	0	1198	1145	40	1	1875	1	ATP9A	20	50273655	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	38442	50273655	12751865	1655	65985											
ATP9A	10079	broad.mit.edu	37	chr20	50346470	50346470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgccccagccagacagtgCggggcctggcctcccctcca	13	18	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:50346470C>T	uc002xwg.1	-	2	116	c.116G>A	c.(115-117)CGC>CAC	p.R39H	ATP9A_uc010gih.1_Missense_Mutation_p.R24H	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	39	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						CCAGACAGTGCGGGGCCTGGC	0.587													T	50346470	C	T	50346470	3	4	98	1	0	0	0	0	1	0	0	0	1198	768	27	1	3135	1	ATP9A	20	50346470	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	72815	50346470	12679050	1656	65986											
ZFP64	55734	broad.mit.edu	37	chr20	50701513	50701513	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgcacgcgcagggcggcCgcgctggagcaggagtagct	18	12	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:50701513C>T	uc002xwk.2	-	9	1870	c.1521G>A	c.(1519-1521)GCG>GCA	p.A507A	ZFP64_uc002xwj.2_Silent_p.A288A	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						GCAGGGCGGCCGCGCTGGAGC	0.672													T	50701513	C	T	50701513	2	4	98	1	0	0	0	0	0	0	0	1	17649	639	23	1		1	ZFP64	20	50701513	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	355043	50701513	12324007	1657	65987											
CYP24A1	1591	broad.mit.edu	37	chr20	52788146	52788146	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgtccagcttcatcacTtcccctggtttcattagttt	6	11	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:52788146T>C	uc002xwv.2	-	3	911	c.513A>G	c.(511-513)GAA>GAG	p.E171E	CYP24A1_uc002xwu.1_Silent_p.E29E|CYP24A1_uc002xww.2_Silent_p.E171E	NM_000782	NP_000773	Q07973	CP24A_HUMAN	cytochrome P450 family 24 subfamily A	171					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GCTTCATCACTTCCCCTGGTT	0.517													C	52788146	T	C	52788146	2	2	98	1	0	0	0	0	0	0	0	1	4154	1606	56	3		3	CYP24A1	20	52788146	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	2086633	52788146	10237374	1658	65988											
CASS4	57091	broad.mit.edu	37	chr20	55027023	55027023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgcctctcaccagctttgCggaagaatcaaggccccacg	9	16	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:55027023C>T	uc002xxp.2	+	6	1016	c.791C>T	c.(790-792)GCG>GTG	p.A264V	CASS4_uc002xxq.3_Missense_Mutation_p.A264V|CASS4_uc002xxr.2_Missense_Mutation_p.A264V|CASS4_uc010zze.1_Missense_Mutation_p.A210V|CASS4_uc010gio.2_Intron	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	264					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						ACCAGCTTTGCGGAAGAATCA	0.502													T	55027023	C	T	55027023	3	4	98	1	0	0	0	0	1	0	0	0	2683	768	27	1	809	1	CASS4	20	55027023	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2238877	55027023	7998497	1659	65989											
CASS4	57091	broad.mit.edu	37	chr20	55033681	55033681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagcctgctcaaggacGtagcgctggccactaagaat	11	12	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:55033681G>A	uc002xxp.2	+	7	2464	c.2239G>A	c.(2239-2241)GTA>ATA	p.V747I	CASS4_uc002xxr.2_Missense_Mutation_p.V747I|CASS4_uc010zze.1_Missense_Mutation_p.V693I|CASS4_uc010gio.2_Missense_Mutation_p.V310I	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	747					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						GCTCAAGGACGTAGCGCTGGC	0.647													A	55033681	G	A	55033681	3	1	98	1	0	0	0	0	1	0	0	0	2683	1145	40	1	2261	1	CASS4	20	55033681	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	6658	55033681	7991839	1660	65990											
APCDD1L	164284	broad.mit.edu	37	chr20	57042216	57042216	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccggtagtgccgcctctcCgccgggtcggtgtggatgtc	17	13	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:57042216C>T	uc002xze.1	-	3	873	c.687G>A	c.(685-687)GCG>GCA	p.A229A	APCDD1L_uc010zzp.1_Silent_p.A240A	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated	229						integral to membrane				ovary(1)	1	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GCCGCCTCTCCGCCGGGTCGG	0.731													T	57042216	C	T	57042216	2	4	98	1	0	0	0	0	0	0	0	1	766	639	23	1		1	APCDD1L	20	57042216	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2008535	57042216	5983304	1661	65991											
ZNF831	128611	broad.mit.edu	37	chr20	57766274	57766274	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccactgtaccacacggtgcCtcccgggggcctccagcccc	10	21	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:57766274C>A	uc002yan.2	+	1	200	c.200C>A	c.(199-201)CCT>CAT	p.P67H		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	67	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CACACGGTGCCTCCCGGGGGC	0.697													A	57766274	C	A	57766274	3	1	98	1	0	0	0	0	1	0	0	0	18182	681	24	5	202	5	ZNF831	20	57766274	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	724058	57766274	5259246	1662	65992											
ZNF831	128611	broad.mit.edu	37	chr20	57766659	57766659	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcacaggcggacgcagacGcacctcaacaactcccggct	10	16	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:57766659G>A	uc002yan.2	+	1	585	c.585G>A	c.(583-585)ACG>ACA	p.T195T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	195	C2H2-type 2.					intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					GGACGCAGACGCACCTCAACA	0.667													A	57766659	G	A	57766659	2	1	98	1	0	0	0	0	0	0	0	1	18182	1074	38	1		1	ZNF831	20	57766659	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	385	57766659	5258861	1663	65993											
SYCP2	10388	broad.mit.edu	37	chr20	58494655	58494655	+	Splice_Site	DEL	A	A	-													ttcaaaccaggcaaccatgtAaaaaaaggaatgaacttatt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:58494654_58494654TA>T	uc002yaz.3	-	5	437	c.298_splice	c.e5-1	p.M100_splice	SYCP2_uc010gju.1_Splice_Site_p.M1_splice	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	100					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GGCAACCATGTAAAAAAAGGA	0.294													-	58494655	A	-	58494655	8	5	98	1	0	1	0	1	0	0	1	0	15429	377	13	0		0	SYCP2	20	58494655	Splice_Site	DEL	A	TCGA-BR-8591-01A-11D-2394-08	727996	58494655	4530865	1664	65994											
LAMA5	3911	broad.mit.edu	37	chr20	60912692	60912692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggcacacatgtgtcacaCcgcagccccgtcacacgggg	12	17	2	0	rs147111128		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:60912692C>T	uc002ycq.2	-	16	2185	c.2118G>A	c.(2116-2118)CGG>CGA	p.R706R		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	706	Laminin EGF-like 8.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGTGTCACACCGCAGCCCCG	0.667													T	60912692	C	T	60912692	2	4	98	1	0	0	0	0	0	0	0	1	8609	494	18	4		4	LAMA5	20	60912692	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2418037	60912692	2112828	1665	65995											
OGFR	11054	broad.mit.edu	37	chr20	61444596	61444596	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccatcggagaccccaggCccccgcccagcaggacctgc	11	20	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:61444596C>T	uc002ydj.2	+	7	1664	c.1629C>T	c.(1627-1629)GGC>GGT	p.G543G	OGFR_uc002ydk.2_Silent_p.G526G|OGFR_uc002ydl.2_Silent_p.G491G|uc011aam.1_Missense_Mutation_p.G16D	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	543	2.|7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity				0	Breast(26;3.65e-08)					AGACCCCAGGCCCCCGCCCAG	0.731													T	61444596	C	T	61444596	2	4	98	1	0	0	0	0	0	0	0	1	10843	726	26	2		2	OGFR	20	61444596	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	531904	61444596	1580924	1666	65996											
COL20A1	57642	broad.mit.edu	37	chr20	61943272	61943272	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgtgctttgcagccacCctggcccccccgagacacct	9	19	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:61943272C>A	uc011aau.1	+	14	1768	c.1668C>A	c.(1666-1668)ACC>ACA	p.T556T	COL20A1_uc011aav.1_Silent_p.T377T	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	556	Fibronectin type-III 4.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					TTGCAGCCACCCTGGCCCCCC	0.701													A	61943272	C	A	61943272	2	1	98	1	0	0	0	0	0	0	0	1	3679	610	22	5		5	COL20A1	20	61943272	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	498676	61943272	1082248	1667	65997											
PRPF6	24148	broad.mit.edu	37	chr20	62654186	62654187	+	Frame_Shift_Del	DEL	GT	GT	-													ggtgttccccagcaagaagaGtgtgtggctgcgcgccgcgt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:62654185_62654186AGT>A	uc002yho.3	+	12	1891_1892	c.1723_1724AGT>A	c.(1723-1725)agtfs	p.S575fs	PRPF6_uc002yhp.3_Frame_Shift_Del_p.S575fs	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	575					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CAGCAAGAAGAGTGTGTGGCTG	0.574													-	62654187	GT	-	62654186	7	5	98	1	0	1	0	1	0	0	0	0	12574	1029	36	0	1774	0	PRPF6	20	62654186	Frame_Shift_Del	DEL	GT	TCGA-BR-8591-01A-11D-2394-08	710914	62654186	371334	1668	65998											
BAGE2	85319	broad.mit.edu	37	chr21	11098712	11098712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccatcttaccactccagcCgccatcttactgctccggcc	6	20	2	0	rs77011809		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:11098712C>T	uc002yit.1	-	1	214	c.6G>A	c.(4-6)GCG>GCA	p.A2A	BAGE_uc002yix.2_RNA	NM_182482	NP_872288			B melanoma antigen family, member 2 precursor												0			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccactccagccgccatcttac	0													T	11098712	C	T	11098712	2	4	98	1	0	0	0	0	0	0	0	1	1292	639	23	1		1	BAGE2	21	11098712	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08		11098712	37031183	1669	65999											
SAMSN1	64092	broad.mit.edu	37	chr21	15884777	15884777	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccttacttgatgagctctGtccactgtagagactatcca	8	11	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:15884777G>T	uc002yju.1	-	4	479	c.397C>A	c.(397-399)CAG>AAG	p.Q133K	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.Q201K	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization	133					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			ovary(3)|pancreas(1)	4				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GATGAGCTCTGTCCACTGTAG	0.453													T	15884777	G	T	15884777	3	4	98	1	0	0	0	0	1	0	0	0	13830	1386	48	5	744	5	SAMSN1	21	15884777	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	4786065	15884777	32245118	1670	66000											
NRIP1	8204	broad.mit.edu	37	chr21	16339835	16339835	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggttcactcatgacctttgTtccactttgtccaacatgat	6	12	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:16339835T>C	uc002yjx.2	-	4	1277	c.679A>G	c.(679-681)ACA>GCA	p.T227A		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	227	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ATGACCTTTGTTCCACTTTGT	0.443													C	16339835	T	C	16339835	3	2	98	1	0	0	0	0	1	0	0	0	10652	1725	60	3	2801	3	NRIP1	21	16339835	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	455058	16339835	31790060	1671	66001											
ADAMTS5	11096	broad.mit.edu	37	chr21	28338429	28338429	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaagaggaacctccggccGcccgcgtagacgaggtagcc	13	15	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:28338429G>A	uc002ymg.2	-	1	1011	c.282C>T	c.(280-282)GGC>GGT	p.G94G		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	94					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						ACCTCCGGCCGCCCGCGTAGA	0.701													A	28338429	G	A	28338429	2	1	98	1	0	0	0	0	0	0	0	1	269	1074	38	1		1	ADAMTS5	21	28338429	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	11998594	28338429	19791466	1672	66002											
KRTAP11-1	337880	broad.mit.edu	37	chr21	32253467	32253467	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttggcagacagtagagatgCcgcccactggttggcagaca	14	10	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:32253467C>A	uc002yov.2	-	1	408	c.377G>T	c.(376-378)GGC>GTC	p.G126V		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	126	4 X 10 AA approximate repeats.|2.					keratin filament	structural molecule activity			pancreas(1)	1						AGTAGAGATGCCGCCCACTGG	0.607													A	32253467	C	A	32253467	3	1	98	1	0	0	0	0	1	0	0	0	8517	739	26	5	118	5	KRTAP11-1	21	32253467	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3915038	32253467	15876428	1673	66003											
IFNAR2	3455	broad.mit.edu	37	chr21	34619154	34619154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggattcagcgggaacacaaCgttgttcagttgctcacaca	10	10	3	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:34619154C>T	uc002yrd.2	+	5	681	c.353C>T	c.(352-354)ACG>ATG	p.T118M	IFNAR2_uc002yrb.2_Missense_Mutation_p.T118M|IFNAR2_uc002yrc.2_Missense_Mutation_p.T118M|IFNAR2_uc002yre.2_Missense_Mutation_p.T118M|IFNAR2_uc002yrf.2_Missense_Mutation_p.T118M|IFNAR2_uc002yrg.2_Translation_Start_Site|IL10RB_uc002yrh.1_5'Flank|IL10RB_uc002yri.1_5'Flank	NM_207585	NP_997468	P48551	INAR2_HUMAN	interferon alpha/beta receptor 2 isoform a	118	Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity				0					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GGGAACACAACGTTGTTCAGT	0.448													T	34619154	C	T	34619154	3	4	98	1	0	0	0	0	1	0	0	0	7545	536	19	1	367	1	IFNAR2	21	34619154	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2365687	34619154	13510741	1674	66004											
SON	6651	broad.mit.edu	37	chr21	34922085	34922085	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctgagaccaatgaatcccCtgcagttgtgctagaacctc	8	12	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:34922085C>A	uc002yse.1	+	3	597	c.548C>A	c.(547-549)CCT>CAT	p.P183H	SON_uc002ysb.1_Missense_Mutation_p.P183H|SON_uc002ysc.2_Missense_Mutation_p.P183H|SON_uc002ysd.2_Translation_Start_Site|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	183					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						AATGAATCCCCTGCAGTTGTG	0.443													A	34922085	C	A	34922085	3	1	98	1	0	0	0	0	1	0	0	0	14926	681	24	5	558	5	SON	21	34922085	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	302931	34922085	13207810	1675	66005											
MORC3	23515	broad.mit.edu	37	chr21	37741865	37741865	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacaacagaggatactagaAatgaatgacaagtatgttaa	8	4	0	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:37741865A>G	uc002yvi.2	+	15	2275	c.2199A>G	c.(2197-2199)GAA>GAG	p.E733E		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	733	Potential.				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						GGATACTAGAAATGAATGACA	0.348													G	37741865	A	G	37741865	2	3	98	1	0	0	0	0	0	0	0	1	9703	11	1	3		3	MORC3	21	37741865	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	2819780	37741865	10388030	1676	66006											
TTC3	7267	broad.mit.edu	37	chr21	38512963	38512964	+	Frame_Shift_Ins	INS	-	-	A													aattggaaaagtatatttgaINSaaaaaaacaggttagtagaa							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:38512962_38512963G>GA	uc002yvz.3	+	19	1866_1867	c.1761_1762G>GA	c.(1759-1764)ttgaaafs	p.L587fs	TTC3_uc011aee.1_Frame_Shift_Ins_p.L277fs|TTC3_uc002ywa.3_Frame_Shift_Ins_p.L587fs|TTC3_uc002ywb.3_Frame_Shift_Ins_p.L587fs|TTC3_uc010gnf.3_Frame_Shift_Ins_p.L352fs|TTC3_uc002ywc.3_Frame_Shift_Ins_p.L277fs|TTC3_uc011aed.1_Frame_Shift_Ins_p.L277fs|TTC3_uc010gne.1_Frame_Shift_Ins_p.L587fs	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	587					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AAGTATATTTGAAAAAAAACAG	0.347													A	38512964	-	A	38512963	7	5	98	1	0	1	1	0	0	0	0	0	16694	247	9	0	1836	0	TTC3	21	38512963	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	771098	38512963	9616932	1677	66007											
TTC3	7267	broad.mit.edu	37	chr21	38538593	38538593	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagcctttctcctgaataTcagctaccaagatcagtacc	6	14	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:38538593T>C	uc002yvz.2	+	33	4182	c.4077T>C	c.(4075-4077)TAT>TAC	p.Y1359Y	TTC3_uc011aee.1_Silent_p.Y1049Y|TTC3_uc002ywa.2_Silent_p.Y1359Y|TTC3_uc002ywb.2_Silent_p.Y1359Y|TTC3_uc010gnf.2_Silent_p.Y1124Y|TTC3_uc002ywc.2_Silent_p.Y1049Y|TTC3_uc002ywd.1_Silent_p.Y423Y	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1359					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				CTCCTGAATATCAGCTACCAA	0.463													C	38538593	T	C	38538593	2	2	98	1	0	0	0	0	0	0	0	1	16694	1442	50	3		3	TTC3	21	38538593	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	25630	38538593	9591302	1678	66008											
KCNJ6	3763	broad.mit.edu	37	chr21	39086633	39086633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcatggctaatgatcagcGgtgacaccagaaacagacgg	11	9	2	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:39086633G>A	uc011aej.1	-	3	880	c.827C>T	c.(826-828)CCG>CTG	p.P276L	KCNJ6_uc002ywo.2_Missense_Mutation_p.P276L	NM_002240	NP_002231	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel J6	276	Cytoplasmic (By similarity).				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1					Halothane(DB01159)	AATGATCAGCGGTGACACCAG	0.493													A	39086633	G	A	39086633	3	1	98	1	0	0	0	0	1	0	0	0	8055	1116	39	1	452	1	KCNJ6	21	39086633	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	548040	39086633	9043262	1679	66009											
ERG	2078	broad.mit.edu	37	chr21	39755554	39755554	+	Frame_Shift_Del	DEL	G	G	-													acttgtacagagatgactccGgggggtggggctggagggcc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:39755553_39755553CG>C	uc010gnw.3	-	11	1528	c.1233_1233CG>G	c.(1231-1233)ccgfs	p.P411fs	ERG_uc021wjd.1_Intron|ERG_uc002yxa.3_Frame_Shift_Del_p.P404fs|ERG_uc011aek.2_Frame_Shift_Del_p.P312fs|ERG_uc010gnv.3_Frame_Shift_Del_p.P288fs|ERG_uc010gnx.3_Frame_Shift_Del_p.P387fs|ERG_uc011ael.2_Frame_Shift_Del_p.P411fs|ERG_uc002yxb.3_Frame_Shift_Del_p.P387fs	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	411					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				GAGATGACTCCGGGGGGTGGG	0.592			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								-	39755554	G	-	39755554	7	5	98	1	0	1	0	1	0	0	0	0	5222	1116	39	0	232	0	ERG	21	39755554	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	668921	39755554	8374341	1680	66010											
DSCAM	1826	broad.mit.edu	37	chr21	41414401	41414401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcccgattcggaaggggtGctggaggtcagactgtccgt	15	9	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:41414401G>A	uc002yyq.1	-	32	6035	c.5583C>T	c.(5581-5583)AGC>AGT	p.S1861S	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1861	Cytoplasmic (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGGAAGGGGTGCTGGAGGTCA	0.542													A	41414401	G	A	41414401	2	1	98	1	0	0	0	0	0	0	0	1	4768	1310	46	2		2	DSCAM	21	41414401	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1658847	41414401	6715494	1681	66011											
DSCAM	1826	broad.mit.edu	37	chr21	41710234	41710234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatacggatagccaatcacaCgacagtgaatgtatgtgtcc	9	9	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:41710234C>T	uc002yyq.1	-	8	2029	c.1577G>A	c.(1576-1578)CGT>CAT	p.R526H	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	526	Extracellular (Potential).|Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCCAATCACACGACAGTGAAT	0.433													T	41710234	C	T	41710234	3	4	98	1	0	0	0	0	1	0	0	0	4768	536	19	1	4565	1	DSCAM	21	41710234	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	295833	41710234	6419661	1682	66012											
KRTAP10-4	386672	broad.mit.edu	37	chr21	45994422	45994422	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagccggcttgctgcaccTcctctccctgccagcaggct	10	19	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:45994422T>C	uc002zfk.1	+	1	817	c.787T>C	c.(787-789)TCC>CCC	p.S263P	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	keratin associated protein 10-4	263	36 X 5 AA repeats of C-C-X(3).					keratin filament					0						TTGCTGCACCTCCTCTCCCTG	0.617													C	45994422	T	C	45994422	3	2	98	1	0	0	0	0	1	0	0	0	8511	1551	54	3	789	3	KRTAP10-4	21	45994422	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	4284188	45994422	2135473	1683	66013											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047366	46047366	+	Frame_Shift_Del	DEL	C	C	-													gccggcttactgcacctcctCcccctgccagcaggcctgct							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:46047365_46047365TC>T	uc002zfp.4	+	0	326	c.277_277TC>T	c.(277-279)tccfs	p.S93fs	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.	93	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CTGCACCTCCTCCCcctgcca	0.662													-	46047366	C	-	46047366	7	5	98	1	0	1	0	1	0	0	0	0	8516	855	30	0	280	0	KRTAP10-9	21	46047366	Frame_Shift_Del	DEL	C	TCGA-BR-8591-01A-11D-2394-08	52944	46047366	2082529	1684	66014											
ADARB1	104	broad.mit.edu	37	chr21	46604951	46604951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcatccaaacgtgggacGgggtgctgcaaggggagcgg	19	9	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:46604951G>A	uc002zgy.2	+	9	2065	c.1630G>A	c.(1630-1632)GGG>AGG	p.G544R	ADARB1_uc002zgr.2_Missense_Mutation_p.G544R|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.G504R|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.G504R|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	544	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		AACGTGGGACGGGGTGCTGCA	0.592													A	46604951	G	A	46604951	3	1	98	1	0	0	0	0	1	0	0	0	282	1116	39	1	1656	1	ADARB1	21	46604951	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	557585	46604951	1524944	1685	66015											
LSS	4047	broad.mit.edu	37	chr21	47635156	47635156	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgttcatacagcttctGcacggcccgctgccgcaggt	11	13	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:47635156G>A	uc002zij.2	-	9	1028	c.949C>T	c.(949-951)CAG>TAG	p.Q317*	LSS_uc011afv.1_Nonsense_Mutation_p.Q306*|LSS_uc002zil.2_Nonsense_Mutation_p.Q317*|LSS_uc002zik.2_Nonsense_Mutation_p.Q237*	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	317					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					TACAGCTTCTGCACGGCCCGC	0.632													A	47635156	G	A	47635156	4	1	98	1	0	0	0	0	0	1	0	0	9065	1328	46	2	1305	2	LSS	21	47635156	Nonsense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1030205	47635156	494739	1686	66016											
PCNT	5116	broad.mit.edu	37	chr21	47771404	47771404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcacaagaagagatcaggcGcttgtggtcccagcttgatt	11	9	2	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:47771404G>A	uc002zji.3	+	9	1513	c.1406G>A	c.(1405-1407)CGC>CAC	p.R469H	PCNT_uc002zjj.2_Missense_Mutation_p.R351H	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	469	Glu-rich.|Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GAGATCAGGCGCTTGTGGTCC	0.448													A	47771404	G	A	47771404	3	1	98	1	0	0	0	0	1	0	0	0	11590	1087	38	1	1440	1	PCNT	21	47771404	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	136248	47771404	358491	1687	66017											
DIP2A	23181	broad.mit.edu	37	chr21	47966860	47966860	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcgtgggcaaactggaCgggctgatggtcactggagt	15	8	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:47966860C>T	uc002zjo.2	+	21	2610	c.2427C>T	c.(2425-2427)GAC>GAT	p.D809D	DIP2A_uc011afy.1_Silent_p.D745D|DIP2A_uc011afz.1_Silent_p.D805D|DIP2A_uc002zjm.2_Silent_p.D809D|DIP2A_uc010gql.2_Silent_p.D766D|DIP2A_uc002zjn.2_Silent_p.D809D|DIP2A_uc002zjq.2_Silent_p.D201D	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	809					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCAAACTGGACGGGCTGATGG	0.582													T	47966860	C	T	47966860	2	4	98	1	0	0	0	0	0	0	0	1	4527	535	19	1		1	DIP2A	21	47966860	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	195456	47966860	163035	1688	66018											
BCL2L13	23786	broad.mit.edu	37	chr22	18171852	18171852	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggcccatcttggagaaaaAgtgtcccaggaactgaaaga	11	8	1	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:18171852A>G	uc002zmw.2	+	4	548	c.330A>G	c.(328-330)AAA>AAG	p.K110K	BCL2L13_uc002zmu.2_Silent_p.K110K|BCL2L13_uc002zmv.2_Silent_p.K110K|BCL2L13_uc002zmx.2_Intron|BCL2L13_uc002zmy.2_Silent_p.K110K|BCL2L13_uc010gqy.2_Intron|BCL2L13_uc011agk.1_Intron|BCL2L13_uc010gqz.2_5'UTR|BCL2L13_uc002zmz.2_5'UTR	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	110	BH3.				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)		TTGGAGAAAAAGTGTCCCAGG	0.498													G	18171852	A	G	18171852	2	3	98	1	0	0	0	0	0	0	0	1	1371	69	3	3		3	BCL2L13	22	18171852	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08		18171852	33132714	1689	66019											
CLTCL1	8218	broad.mit.edu	37	chr22	19175559	19175559	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acactcttgttgttgtggctCtggactgaccgcaggtaagg	13	9	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:19175559C>A	uc002zpb.2	-	29	4443	c.4368G>T	c.(4366-4368)CAG>CAT	p.Q1456H	CLTCL1_uc011agv.1_Missense_Mutation_p.Q1456H|CLTCL1_uc011agw.1_Missense_Mutation_p.Q1435H|CLTCL1_uc011agt.1_Missense_Mutation_p.Q247H|CLTCL1_uc011agu.1_Intron	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	1456	Involved in binding clathrin light chain (By similarity).|Proximal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					TGTTGTGGCTCTGGACTGACC	0.572			T	?	ALCL								A	19175559	C	A	19175559	3	1	98	1	0	0	0	0	1	0	0	0	3567	912	32	5	574	5	CLTCL1	22	19175559	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1003707	19175559	32129007	1690	66020											
ARVCF	421	broad.mit.edu	37	chr22	19969175	19969175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaagggcctagtggggggCcgccatccagcagggggagt	18	10	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:19969175C>T	uc002zqz.2	-	5	726	c.455G>A	c.(454-456)GGC>GAC	p.G152D	ARVCF_uc002zqy.2_5'Flank|ARVCF_uc002zra.2_Missense_Mutation_p.G152D	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	152					cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					TAGTGGGGGGCCGCCATCCAG	0.637													T	19969175	C	T	19969175	3	4	98	1	0	0	0	0	1	0	0	0	1003	739	26	2	2493	2	ARVCF	22	19969175	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	793616	19969175	31335391	1691	66021											
ZDHHC8	29801	broad.mit.edu	37	chr22	20130522	20130522	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcgctctgagggggggCcccccacgccccaccgtagc	13	20	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:20130522C>G	uc002zrq.2	+	10	1475	c.1369C>G	c.(1369-1371)CCC>GCC	p.P457A	ZDHHC8_uc002zrr.1_Missense_Mutation_p.P457A|ZDHHC8_uc010gsa.2_Missense_Mutation_p.P263A	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	457	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					TGAGGGGGGGCCCCCCACGCC	0.687													G	20130522	C	G	20130522	3	3	98	1	0	0	0	0	1	0	0	0	17618	739	26	5	1407	5	ZDHHC8	22	20130522	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	161347	20130522	31174044	1692	66022											
KLHL22	84861	broad.mit.edu	37	chr22	20819312	20819312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttagatacttggcctggtcGctgaggacagtggacggcgt	15	8	0	2	rs140533712	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:20819312G>A	uc002zsl.1	-	4	1054	c.945C>T	c.(943-945)AGC>AGT	p.S315S	KLHL22_uc011ahr.1_Silent_p.S172S|KLHL22_uc002zsm.1_Silent_p.S315S	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	315	Kelch 1.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGGCCTGGTCGCTGAGGACAG	0.627													A	20819312	G	A	20819312	2	1	98	1	0	0	0	0	0	0	0	1	8377	1078	38	1		1	KLHL22	22	20819312	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	688790	20819312	30485254	1693	66023											
AIFM3	150209	broad.mit.edu	37	chr22	21331366	21331366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggtcgtgcgggctgacGtctgcgtggtgggcattggt	19	8	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:21331366G>A	uc002ztj.2	+	14	1482	c.1264G>A	c.(1264-1266)GTC>ATC	p.V422I	AIFM3_uc002ztk.2_Missense_Mutation_p.V422I|AIFM3_uc002ztl.2_Missense_Mutation_p.V428I|AIFM3_uc011ahx.1_Missense_Mutation_p.V410I|AIFM3_uc002ztm.1_Missense_Mutation_p.V234I|LZTR1_uc002ztn.2_5'Flank	NM_144704	NP_653305	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor,	422					activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport	endoplasmic reticulum|mitochondrial inner membrane	2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding			ovary(2)|lung(2)	4	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCGGGCTGACGTCTGCGTGGT	0.507													A	21331366	G	A	21331366	3	1	98	1	0	0	0	0	1	0	0	0	428	1145	40	1	1332	1	AIFM3	22	21331366	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	512054	21331366	29973200	1694	66024											
CABIN1	23523	broad.mit.edu	37	chr22	24487673	24487673	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctgagaagcagcagcAgccacccaccgtttacttgc	12	13	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:24487673A>C	uc002zzi.1	+	24	3789	c.3662A>C	c.(3661-3663)CAG>CCG	p.Q1221P	CABIN1_uc002zzj.1_Missense_Mutation_p.Q1171P|CABIN1_uc002zzl.1_Missense_Mutation_p.Q1221P	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1221					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						AAGCAGCAGCAGCCACCCACC	0.597													C	24487673	A	C	24487673	3	2	98	1	0	0	0	0	1	0	0	0	2528	188	7	5	3752	5	CABIN1	22	24487673	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	3156307	24487673	26816893	1695	66025											
UPB1	51733	broad.mit.edu	37	chr22	24916395	24916395	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggccagaaacgcagccattGccaatcactgcttcacctgc	8	15	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:24916395G>T	uc003aaf.2	+	7	953	c.832G>T	c.(832-834)GCC>TCC	p.A278S	UPB1_uc003aae.2_Missense_Mutation_p.A210S|UPB1_uc011ajt.1_Missense_Mutation_p.A278S	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	beta-ureidopropionase	278	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			ovary(2)	2	Colorectal(2;0.0339)					CGCAGCCATTGCCAATCACTG	0.607													T	24916395	G	T	24916395	3	4	98	1	0	0	0	0	1	0	0	0	16999	1319	46	5	858	5	UPB1	22	24916395	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	428722	24916395	26388171	1696	66026											
TPST2	8459	broad.mit.edu	37	chr22	26937268	26937268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacttggaccaggcctggCgcatggccagcacgcgcggg	16	14	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:26937268C>T	uc003acv.2	-	2	497	c.329G>A	c.(328-330)CGC>CAC	p.R110H	TPST2_uc003acw.2_Missense_Mutation_p.R110H|TPST2_uc003acx.2_Missense_Mutation_p.R110H|TPST2_uc011akf.1_Missense_Mutation_p.R110H	NM_003595	NP_003586	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	110	Lumenal (Potential).				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)	1						CCAGGCCTGGCGCATGGCCAG	0.697													T	26937268	C	T	26937268	3	4	98	1	0	0	0	0	1	0	0	0	16425	768	27	1	820	1	TPST2	22	26937268	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	2020873	26937268	24367298	1697	66027											
MN1	4330	broad.mit.edu	37	chr22	28196314	28196314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcaactccgagtggccgCgcgcgtggaagccgtagggc	17	13	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:28196314C>T	uc003adj.2	-	1	1173	c.218G>A	c.(217-219)CGC>CAC	p.R73H		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	73							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						CGAGTGGCCGCGCGCGTGGAA	0.682			T	ETV6	AML|meningioma								T	28196314	C	T	28196314	3	4	98	1	0	0	0	0	1	0	0	0	9673	768	27	1	3752	1	MN1	22	28196314	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1259046	28196314	23108252	1698	66028											
ASCC2	84164	broad.mit.edu	37	chr22	30221642	30221642	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttatcgtgaggcaaggccAggagccagtcgaggtcattg	14	8	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:30221642A>C	uc003agr.2	-	3	314	c.209T>G	c.(208-210)CTG>CGG	p.L70R	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.L70R|ASCC2_uc011akr.1_Intron	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			AGGCAAGGCCAGGAGCCAGTC	0.488													C	30221642	A	C	30221642	3	2	98	1	0	0	0	0	1	0	0	0	1032	188	7	5	2136	5	ASCC2	22	30221642	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	2025328	30221642	21082924	1699	66029											
SF3A1	10291	broad.mit.edu	37	chr22	30734814	30734814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgaagtgatgggtggagcCgagctggggatgttggtggc	20	5	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:30734814C>T	uc003ahl.2	-	11	1839	c.1707G>A	c.(1705-1707)TCG>TCA	p.S569S		NM_005877	NP_005868	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa isoform 1	569					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			ovary(3)|large_intestine(1)|pancreas(1)	5						TGGGTGGAGCCGAGCTGGGGA	0.537													T	30734814	C	T	30734814	2	4	98	1	0	0	0	0	0	0	0	1	14146	639	23	1		1	SF3A1	22	30734814	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	513172	30734814	20569752	1700	66030											
PATZ1	23598	broad.mit.edu	37	chr22	31741335	31741335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcgcgccccctacatcaGccggacccccgtccgcagct	9	22	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:31741335G>A	uc003akq.2	-	1	915	c.254C>T	c.(253-255)GCT>GTT	p.A85V	PATZ1_uc003akp.2_Missense_Mutation_p.A85V|PATZ1_uc003akr.2_Missense_Mutation_p.A85V|PATZ1_uc003aks.2_Missense_Mutation_p.A85V|uc003akt.2_5'Flank	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	85	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2						CCCTACATCAGCCGGACCCCC	0.692													A	31741335	G	A	31741335	3	1	98	1	0	0	0	0	1	0	0	0	11476	971	34	2	2112	2	PATZ1	22	31741335	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1006521	31741335	19563231	1701	66031											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31884676	31884677	+	Frame_Shift_Del	DEL	TC	TC	-													caaggaaagcatctccacttTctgtttcacccatacttctc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:31884675_31884676TTC>T	uc003akz.2	-	1	227_228	c.29_30GAA>A	c.(28-30)gaafs	p.E10fs	EIF4ENIF1_uc003ala.2_Frame_Shift_Del_p.E10fs|EIF4ENIF1_uc003alb.2_Frame_Shift_Del_p.E10fs|EIF4ENIF1_uc003alc.1_Frame_Shift_Del_p.E10fs	NM_001164501	NP_062817	Q9NRA8	4ET_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E nuclear import factor 1 (EIF4ENIF1), transcript variant 2, mRNA.	10						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CATCTCCACTTTCTGTTTCACC	0.441													-	31884677	TC	-	31884676	7	5	98	1	0	1	0	1	0	0	0	0	5035	1783	62	0	3003	0	EIF4ENIF1	22	31884676	Frame_Shift_Del	DEL	TC	TCGA-BR-8591-01A-11D-2394-08	143341	31884676	19419890	1702	66032											
MYH9	4627	broad.mit.edu	37	chr22	36684430	36684430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgagcgctgcttcctctcGtcctccagctctgcctccat	7	18	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:36684430G>A	uc003apg.2	-	34	5031	c.4800C>T	c.(4798-4800)GAC>GAT	p.D1600D		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1600	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GCTTCCTCTCGTCCTCCAGCT	0.622			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				A	36684430	G	A	36684430	2	1	98	1	0	0	0	0	0	0	0	1	10042	1136	40	1		1	MYH9	22	36684430	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	4799754	36684430	14620136	1703	66033											
C22orf33	339669	broad.mit.edu	37	chr22	37395938	37395938	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagtagtctgagaagacggAggagatttccacaggattct	12	6	2	3	rs112746500		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:37395938A>G	uc003aqf.2	-	4	723	c.577T>C	c.(577-579)TCC>CCC	p.S193P	C22orf33_uc003aqe.2_Missense_Mutation_p.S108P	NM_001163857	NP_001157329	O43247	EAN57_HUMAN	hypothetical protein LOC339669 isoform 1	193											0						GAGAAGACGGAGGAGATTTCC	0.542													G	37395938	A	G	37395938	3	3	98	1	0	0	0	0	1	0	0	0	2145	304	11	3	277	3	C22orf33	22	37395938	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	711508	37395938	13908628	1704	66034											
TMPRSS6	164656	broad.mit.edu	37	chr22	37482378	37482378	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcgtagtagctgtgcagGcccttcttccagacgaccgc	13	13	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:37482378G>A	uc003aqs.1	-	8	1059	c.945C>T	c.(943-945)GGC>GGT	p.G315G	TMPRSS6_uc003aqt.1_Silent_p.G306G|TMPRSS6_uc003aqu.2_Silent_p.G306G	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	315	CUB 1.|Extracellular (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)|skin(1)	6						AGCTGTGCAGGCCCTTCTTCC	0.662													A	37482378	G	A	37482378	2	1	98	1	0	0	0	0	0	0	0	1	16248	1190	42	2		2	TMPRSS6	22	37482378	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	86440	37482378	13822188	1705	66035											
C1QTNF6	114904	broad.mit.edu	37	chr22	37581312	37581312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggcagggcgtgggggcGgccggaggaagaggctgagg	23	8	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:37581312G>A	uc003aqw.1	-	1	683	c.178C>T	c.(178-180)CGC>TGC	p.R60C	C1QTNF6_uc003aqx.1_Missense_Mutation_p.R79C|C1QTNF6_uc003aqy.1_Missense_Mutation_p.R79C|C1QTNF6_uc003aqz.1_RNA	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	60						collagen					0						GCGTGGGGGCGGCCGGAGGAA	0.632													A	37581312	G	A	37581312	3	1	98	1	0	0	0	0	1	0	0	0	1967	1116	39	1	609	1	C1QTNF6	22	37581312	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	98934	37581312	13723254	1706	66036											
MICALL1	85377	broad.mit.edu	37	chr22	38318086	38318086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctgggcccggggacacGgtcggggaccaggcctgggc	20	13	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:38318086G>A	uc003aui.2	+	6	761	c.677G>A	c.(676-678)CGG>CAG	p.R226Q		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13	226						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)					CCGGGGACACGGTCGGGGACC	0.652													A	38318086	G	A	38318086	3	1	98	1	0	0	0	0	1	0	0	0	9573	1116	39	1	699	1	MICALL1	22	38318086	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	736774	38318086	12986480	1707	66037											
KCNJ4	3761	broad.mit.edu	37	chr22	38824079	38824079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgttcttcttgacgaagCggttgcggcgcttccgccgg	15	13	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:38824079C>T	uc003avs.1	-	2	156	c.59G>A	c.(58-60)CGC>CAC	p.R20H	KCNJ4_uc003avt.1_Missense_Mutation_p.R20H	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	20	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					CTTGACGAAGCGGTTGCGGCG	0.642													T	38824079	C	T	38824079	3	4	98	1	0	0	0	0	1	0	0	0	8053	768	27	1	1282	1	KCNJ4	22	38824079	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	505993	38824079	12480487	1708	66038											
APOBEC3B	9582	broad.mit.edu	37	chr22	39382072	39382072	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctgagtcaggcaggagccCgcgtgacgatcatggactat	15	10	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:39382072C>A	uc003awo.1	+	3	484	c.430C>A	c.(430-432)CGC>AGC	p.R144S	APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.R144S|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	144					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(58;0.04)					GGCAGGAGCCCGCGTGACGAT	0.592													A	39382072	C	A	39382072	3	1	98	1	0	0	0	0	1	0	0	0	790	652	23	5	440	5	APOBEC3B	22	39382072	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	557993	39382072	11922494	1709	66039											
APOBEC3D	140564	broad.mit.edu	37	chr22	39418983	39418983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggggtctttcgaggcccGgtactacccaaacgtcagtc	11	13	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:39418983G>A	uc011aoe.1	+	2	228	c.174G>A	c.(172-174)CCG>CCA	p.P58P	APOBEC3D_uc011aod.1_Silent_p.P58P|APOBEC3D_uc011aof.1_Silent_p.P58P|APOBEC3D_uc003awu.3_Silent_p.P58P|APOBEC3D_uc003awt.3_Silent_p.P58P|APOBEC3D_uc010gxu.2_5'UTR	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	58					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding				0	Melanoma(58;0.04)					TTCGAGGCCCGGTACTACCCA	0.517													A	39418983	G	A	39418983	2	1	98	1	0	0	0	0	0	0	0	1	792	1103	39	1		1	APOBEC3D	22	39418983	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	36911	39418983	11885583	1710	66040											
TAB1	10454	broad.mit.edu	37	chr22	39826200	39826200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctggagcgtggaccatggCgagcagagcgtggtgacagc	17	10	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:39826200C>T	uc003axt.2	+	11	1537	c.1488C>T	c.(1486-1488)GGC>GGT	p.G496G	TAB1_uc003axr.2_Silent_p.G572G|TAB1_uc011aok.1_Silent_p.G330G|TAB1_uc003axu.1_Intron	NM_006116	NP_006107	Q15750	TAB1_HUMAN	mitogen-activated protein kinase kinase kinase 7	496					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)	1						TGGACCATGGCGAGCAGAGCG	0.647													T	39826200	C	T	39826200	2	4	98	1	0	0	0	0	0	0	0	1	15492	755	27	1		1	TAB1	22	39826200	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	407217	39826200	11478366	1711	66041											
EP300	2033	broad.mit.edu	37	chr22	41543950	41543950	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacctggagctctcaacccGgttagtttgacgtctttggt	10	11	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:41543950G>A	uc003azl.3	+	12	2636	c.2241G>A	c.(2239-2241)CCG>CCA	p.P747P		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	747					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CTCTCAACCCGGTTAGTTTGA	0.463			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				A	41543950	G	A	41543950	2	1	98	1	0	0	0	0	0	0	0	1	5148	1130	39	1		1	EP300	22	41543950	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1717750	41543950	9760616	1712	66042											
TNFRSF13C	115650	broad.mit.edu	37	chr22	42321471	42321471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaggtggggtggttcctGggtcttccccaggaggaggc	19	10	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:42321471G>A	uc003bbl.2	-	3	499	c.455C>T	c.(454-456)CCA>CTA	p.P152L	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Missense_Mutation_p.P153L	NM_052945	NP_443177	Q96RJ3	TR13C_HUMAN	BAFF receptor	152	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						GGTGGTTCCTGGGTCTTCCCC	0.632													A	42321471	G	A	42321471	3	1	98	1	0	0	0	0	1	0	0	0	16285	1348	47	4	103	4	TNFRSF13C	22	42321471	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	777521	42321471	8983095	1713	66043											
TTLL12	23170	broad.mit.edu	37	chr22	43570381	43570381	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggggaactggttcagcaGcacgcctggcctctcctggc	14	14	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:43570381G>A	uc003bdq.2	-	8	1095	c.1063C>T	c.(1063-1065)CTG>TTG	p.L355L	TTLL12_uc003bdr.1_Silent_p.L355L	NM_015140	NP_055955	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	355	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)	1		Ovarian(80;0.221)|Glioma(61;0.222)				TGGTTCAGCAGCACGCCTGGC	0.701													A	43570381	G	A	43570381	2	1	98	1	0	0	0	0	0	0	0	1	16722	962	34	2		2	TTLL12	22	43570381	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1248910	43570381	7734185	1714	66044											
SCUBE1	80274	broad.mit.edu	37	chr22	43623412	43623412	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccgttccagtggagccgcCtccccgggggacagacgcac	13	17	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:43623412C>A	uc003bdt.1	-	10	1263	c.1175G>T	c.(1174-1176)AGG>ATG	p.R392M		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	392	EGF-like 9; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				GTGGAGCCGCCTCCCCGGGGG	0.657													A	43623412	C	A	43623412	3	1	98	1	0	0	0	0	1	0	0	0	13944	681	24	5	1843	5	SCUBE1	22	43623412	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	53031	43623412	7681154	1715	66045											
SMC1B	27127	broad.mit.edu	37	chr22	45750990	45750990	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgatttcttgatcagactgTagagcctattatgggcaaag	10	7	2	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:45750990T>C	uc003bgc.2	-	20	3019	c.2967A>G	c.(2965-2967)CTA>CTG	p.L989L	SMC1B_uc003bgd.2_Silent_p.L989L	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	989	Potential.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GATCAGACTGTAGAGCCTATT	0.498													C	45750990	T	C	45750990	2	2	98	1	0	0	0	0	0	0	0	1	14782	1625	57	3		3	SMC1B	22	45750990	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	2127578	45750990	5553576	1716	66046											
CELSR1	9620	broad.mit.edu	37	chr22	46931895	46931895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccacgcgccccccaacacGcggtaacgcaagttggcgtt	10	17	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:46931895G>A	uc003bhw.1	-	1	1173	c.1173C>T	c.(1171-1173)CGC>CGT	p.R391R		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	391	Extracellular (Potential).|Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCCCCAACACGCGGTAACGCA	0.692													A	46931895	G	A	46931895	2	1	98	1	0	0	0	0	0	0	0	1	3221	1074	38	1		1	CELSR1	22	46931895	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1180905	46931895	4372671	1717	66047											
TBC1D22A	25771	broad.mit.edu	37	chr22	47189608	47189608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccacagccagcggcagggGcggcccacgctgcaggaggg	17	14	0	0	rs149181794	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:47189608G>A	uc003bib.2	+	3	465	c.330G>A	c.(328-330)GGG>GGA	p.G110G	TBC1D22A_uc010haf.2_Silent_p.G80G|TBC1D22A_uc003bic.2_Silent_p.G110G|TBC1D22A_uc003bie.2_Silent_p.G91G|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Silent_p.G63G	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	110						intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		AGCGGCAGGGGCGGCCCACGC	0.706													A	47189608	G	A	47189608	2	1	98	1	0	0	0	0	0	0	0	1	15608	1190	42	2		2	TBC1D22A	22	47189608	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	257713	47189608	4114958	1718	66048											
MAPK11	5600	broad.mit.edu	37	chr22	50705416	50705416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcaggtgcccggtaccagCgcgtggccacatagccggtc	13	15	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:50705416C>T	uc003bkr.2	-	7	615	c.557G>A	c.(556-558)CGC>CAC	p.R186H	MAPK11_uc010hax.2_Missense_Mutation_p.R8H|MAPK11_uc011ars.1_RNA|MAPK11_uc010hay.1_RNA|MAPK11_uc011art.1_3'UTR|MAPK11_uc010haz.2_Missense_Mutation_p.R78H	NM_002751	NP_002742	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	186	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			lung(1)|breast(1)	2		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGGTACCAGCGCGTGGCCAC	0.637													T	50705416	C	T	50705416	3	4	98	1	0	0	0	0	1	0	0	0	9273	768	27	1	561	1	MAPK11	22	50705416	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3515808	50705416	599150	1719	66049											
SBF1	6305	broad.mit.edu	37	chr22	50893694	50893694	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggaagacgggtgtgaAgccgctgctctgcccggcca	15	13	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:50893694A>G	uc003blh.2	-	33	4708	c.4513T>C	c.(4513-4515)TTC>CTC	p.F1505L	SBF1_uc003ble.2_5'UTR|SBF1_uc003blf.2_5'UTR|SBF1_uc011arx.1_Missense_Mutation_p.F1143L	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1479	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACGGGTGTGAAGCCGCTGCTC	0.677													G	50893694	A	G	50893694	3	3	98	1	0	0	0	0	1	0	0	0	13858	72	3	3	1204	3	SBF1	22	50893694	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	188278	50893694	410872	1720	66050											
SHANK3	85358	broad.mit.edu	37	chr22	51117092	51117092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgttggacaaggggctggAccccaacttccatgaccctg	11	14	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:51117092A>G	uc003bne.1	+	4	419	c.419A>G	c.(418-420)GAC>GGC	p.D140G		NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	140										central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AAGGGGCTGGACCCCAACTTC	0.607													G	51117092	A	G	51117092	3	3	98	1	0	0	0	0	1	0	0	0	14266	275	10	3	433	3	SHANK3	22	51117092	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	223398	51117092	187474	1721	66051											
SFRS17A	8227	broad.mit.edu	37	chrX	1712646	1712646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttttctggcctgcctggaCggcaagaccatcaagctcag	10	13	4	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:1712646C>T	uc004cqa.2	+	2	487	c.291C>T	c.(289-291)GAC>GAT	p.D97D	SFRS17A_uc010ncx.1_Silent_p.D97D|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	97	PKA-RI and PKA-RII subunit binding domain.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGCCTGGACGGCAAGACCA	0.592													T	1712646	C	T	1712646	2	4	98	1	0	0	0	0	0	0	0	1	14173	535	19	1		1	SFRS17A	23	1712646	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08		1712646	153557914	1722	66052											
DDX53	168400	broad.mit.edu	37	chrX	23018779	23018779	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggagaaaggaaaatttcaAcataacgtgtgatgacttga	10	5	1	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:23018779A>G	uc004daj.2	+	1	693	c.605A>G	c.(604-606)AAC>AGC	p.N202S		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	202						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			large_intestine(1)|ovary(1)|kidney(1)	3						GAAAATTTCAACATAACGTGT	0.383													G	23018779	A	G	23018779	3	3	98	1	0	0	0	0	1	0	0	0	4371	43	2	3	607	3	DDX53	23	23018779	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	21306133	23018779	132251781	1723	66053											
PRDX4	10549	broad.mit.edu	37	chrX	23685738	23685738	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actccggaccacggccgccaCcgaaggctgcttctgctgcc	11	18	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:23685738C>A	uc004dam.2	+	1	94	c.51C>A	c.(49-51)CAC>CAA	p.H17Q		NM_006406	NP_006397	Q13162	PRDX4_HUMAN	peroxiredoxin 4	17					cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity			upper_aerodigestive_tract(1)	1						ACGGCCGCCACCGAAGgctgc	0.577													A	23685738	C	A	23685738	3	1	98	1	0	0	0	0	1	0	0	0	12467	506	18	5	53	5	PRDX4	23	23685738	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	666959	23685738	131584822	1724	66054											
DMD	1756	broad.mit.edu	37	chrX	32383293	32383293	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcaggtgcaccttctgTttctcaatctctttttgagt	6	11	5	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:32383293T>C	uc004dda.1	-	35	5113	c.4869A>G	c.(4867-4869)AAA>AAG	p.K1623K	DMD_uc004dcw.2_Silent_p.K279K|DMD_uc004dcx.2_Silent_p.K282K|DMD_uc004dcz.2_Silent_p.K1500K|DMD_uc004dcy.1_Silent_p.K1619K|DMD_uc004ddb.1_Silent_p.K1615K|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1623	Spectrin 11.|Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCACCTTCTGTTTCTCAATCT	0.413													C	32383293	T	C	32383293	2	2	98	1	0	0	0	0	0	0	0	1	4580	1722	60	3		3	DMD	23	32383293	Silent	SNP	T	TCGA-BR-8591-01A-11D-2394-08	8697555	32383293	122887267	1725	66055											
DMD	1756	broad.mit.edu	37	chrX	32481581	32481581	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcacatgtgatcccactgaGtgttaagttctttgagttct	10	8	2	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:32481581G>T	uc004dda.1	-	25	3651	c.3407C>A	c.(3406-3408)ACT>AAT	p.T1136N	DMD_uc004dcz.2_Missense_Mutation_p.T1013N|DMD_uc004dcy.1_Missense_Mutation_p.T1132N|DMD_uc004ddb.1_Missense_Mutation_p.T1128N|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1136	Spectrin 7.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCCCACTGAGTGTTAAGTTC	0.438													T	32481581	G	T	32481581	3	4	98	1	0	0	0	0	1	0	0	0	4580	1029	36	5	8113	5	DMD	23	32481581	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	98288	32481581	122788979	1726	66056											
CXorf59	286464	broad.mit.edu	37	chrX	36162895	36162896	+	Frame_Shift_Ins	INS	-	-	T													tccctttggagcaggatgcaINStttttttctccttctgccct					rs138216098	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:36162895_36162896insT	uc004ddk.1	+	11	1664_1665	c.1478_1479insT	c.(1477-1479)CATfs	p.H493fs		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	hypothetical protein LOC286464	493						integral to membrane				central_nervous_system(1)	1						agcaggatgcatttttttctcc	0													T	36162896	-	T	36162895	7	5	98	1	0	1	1	0	0	0	0	0	4115	217	8	0	1516	0	CXorf59	23	36162895	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	3681314	36162895	119107665	1727	66057											
RPGR	6103	broad.mit.edu	37	chrX	38144935	38144935	+	Frame_Shift_Del	DEL	T	T	-													cctgtgtgttagtaactgacTttttttgatatgttttatgt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:38144934_38144934CT>C	uc004ded.1	-	14	3486	c.3318_3318AG>G	c.(3316-3318)aagfs	p.K1106fs	RPGR_uc004deb.3_Intron|RPGR_uc004dea.3_Intron|RPGR_uc004dec.3_Intron	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA.	888					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TAGTAACTGACTTTTTTTGAT	0.388													-	38144935	T	-	38144935	7	5	98	1	0	1	0	1	0	0	0	0	13548	1609	56	0	704	0	RPGR	23	38144935	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08	1982040	38144935	117125625	1728	66058											
GAGE1	2543	broad.mit.edu	37	chrX	49369669	49369669	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaacaattgcttcttaaatCtttccccacggaaaccttga	5	11	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:49369669C>A	uc004dok.1	+	5	516	c.400C>A	c.(400-402)CTT>ATT	p.L134I	GAGE1_uc004doj.2_Missense_Mutation_p.L133I|GAGE1_uc004dol.1_Intron	NM_001468	NP_001459	Q13065	GAGE1_HUMAN	G antigen 1 isoform 1	134					cellular defense response						0	Ovarian(276;0.236)					CTTCTTAAATCTTTCCCCACG	0.284													A	49369669	C	A	49369669	3	1	98	1	0	0	0	0	1	0	0	0	6186	913	32	5	414	5	GAGE1	23	49369669	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	11224734	49369669	105900891	1729	66059											
AKAP4	8852	broad.mit.edu	37	chrX	49958701	49958701	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accagagaagatagtcggttGacgtagaaggaaaggtcatc	13	6	1	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:49958701G>A	uc004dow.1	-	5	787	c.663C>T	c.(661-663)GTC>GTT	p.V221V	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Silent_p.V43V|AKAP4_uc004dou.1_Silent_p.V212V	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	221	PKA-RI and PKA-RII subunit binding domain (By similarity).				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					ATAGTCGGTTGACGTAGAAGG	0.453													A	49958701	G	A	49958701	2	1	98	1	0	0	0	0	0	0	0	1	453	1277	45	4		4	AKAP4	23	49958701	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	589032	49958701	105311859	1730	66060											
AKAP4	8852	broad.mit.edu	37	chrX	49962241	49962241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggacacatcgacaaagCatatctgcatcaaattagaa	9	8	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:49962241C>T	uc004dow.1	-	3	252	c.128G>A	c.(127-129)TGC>TAC	p.C43Y	AKAP4_uc004dov.1_Missense_Mutation_p.C34Y|AKAP4_uc010njp.1_5'UTR|AKAP4_uc004dou.1_Missense_Mutation_p.C34Y	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	43					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					ATCGACAAAGCATATCTGCAT	0.343													T	49962241	C	T	49962241	3	4	98	1	0	0	0	0	1	0	0	0	453	710	25	2	2452	2	AKAP4	23	49962241	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	3540	49962241	105308319	1731	66061											
DGKK	139189	broad.mit.edu	37	chrX	50213598	50213598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcggcggccaaggcggcGgaggctctggagactcagcg	20	12	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:50213598G>A	uc010njr.1	-	1	140	c.80C>T	c.(79-81)CCG>CTG	p.P27L		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	27					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					ccaaggcggcggaggcTCTGG	0.468													A	50213598	G	A	50213598	3	1	98	1	0	0	0	0	1	0	0	0	4472	1116	39	1	3846	1	DGKK	23	50213598	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	251357	50213598	105056962	1732	66062											
SHROOM4	57477	broad.mit.edu	37	chrX	50378665	50378665	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaccactgcacacacacGtcactgtaagacacagggca	9	14	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:50378665G>A	uc004dpe.2	-	4	434	c.408C>T	c.(406-408)GAC>GAT	p.D136D	SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Silent_p.D20D	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	136					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					GCACACACACGTCACTGTAAG	0.572													A	50378665	G	A	50378665	2	1	98	1	0	0	0	0	0	0	0	1	14296	1136	40	1		1	SHROOM4	23	50378665	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	165067	50378665	104891895	1733	66063											
MAGED1	9500	broad.mit.edu	37	chrX	51638632	51638632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacctggccaacagcaggCctaagacccctttcaaggct	9	14	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:51638632C>T	uc004dpm.2	+	3	624	c.529C>T	c.(529-531)CCT>TCT	p.P177S	MAGED1_uc004dpn.2_Missense_Mutation_p.P233S|MAGED1_uc004dpo.2_Missense_Mutation_p.P177S|MAGED1_uc011mnx.1_Missense_Mutation_p.P108S	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform b	177					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)					CAACAGCAGGCCTAAGACCCC	0.517										Multiple Myeloma(10;0.10)			T	51638632	C	T	51638632	3	4	98	1	0	0	0	0	1	0	0	0	9183	739	26	2	707	2	MAGED1	23	51638632	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	1259967	51638632	103631928	1734	66064											
MAGED1	9500	broad.mit.edu	37	chrX	51641391	51641391	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccattgcagctgtcctctgGgaggcactacgcaagatggg	13	12	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:51641391G>A	uc004dpm.2	+	9	1844	c.1749G>A	c.(1747-1749)TGG>TGA	p.W583*	MAGED1_uc004dpn.2_Nonsense_Mutation_p.W639*|MAGED1_uc004dpo.2_Nonsense_Mutation_p.W583*	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform b	583	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)					CTGTCCTCTGGGAGGCACTAC	0.567										Multiple Myeloma(10;0.10)			A	51641391	G	A	51641391	4	1	98	1	0	0	0	0	0	1	0	0	9183	1241	43	4	1951	4	MAGED1	23	51641391	Nonsense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	2759	51641391	103629169	1735	66065											
SSX7	280658	broad.mit.edu	37	chrX	52677445	52677445	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggcttcttgggcatgAtctttataatgtgaaggtca	11	7	3	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:52677445A>C	uc004dqx.1	-	6	491	c.332T>G	c.(331-333)ATC>AGC	p.I111S		NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			skin(1)	1	Ovarian(276;0.236)					CTTGGGCATGATCTTTATAAT	0.328													C	52677445	A	C	52677445	3	2	98	1	0	0	0	0	1	0	0	0	15208	347	12	5	242	5	SSX7	23	52677445	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	1036054	52677445	102593115	1736	66066											
KDM5C	8242	broad.mit.edu	37	chrX	53222309	53222310	+	Frame_Shift_Ins	INS	-	-	G													agtggtggggatgggtgcagINSgggggccctcacccccagtc							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:53222308_53222309A>AG	uc004drz.3	-	25	5056_5057	c.4523_4524T>CT	c.(4522-4524)cctfs	p.P1508fs	KDM5C_uc022bxe.1_Intron|KDM5C_uc004dsa.3_Frame_Shift_Ins_p.P1507fs|AY927613_uc004dsb.1_Intron	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	1508					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GGATGGGTGCAGGGGGGCCCTC	0.658			"N, F, S"		clear cell renal carcinoma								G	53222310	-	G	53222309	7	5	98	1	0	1	1	0	0	0	0	0	8135	1000	35	0	261	0	KDM5C	23	53222309	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	544864	53222309	102048251	1737	66067											
KLF8	11279	broad.mit.edu	37	chrX	56291859	56291860	+	Frame_Shift_Ins	INS	-	-	C													gctacaagctccaatacgtcINScccccaagccacagtcttct							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:56291858_56291859T>TC	uc004dur.3	+	2	1273_1274	c.327_328T>TC	c.(325-330)cgtcccfs	p.R109fs	KLF8_uc010nkg.2_Frame_Shift_Ins_p.R104fs|KLF8_uc011mop.2_Frame_Shift_Ins_p.R109fs|KLF8_uc010nkh.3_Non-coding_Transcript	NM_007250	NP_009181	O95600	KLF8_HUMAN	Homo sapiens Kruppel-like factor 8 (KLF8), transcript variant 1, mRNA.	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						CTCCAATACGTCCCCCCAAGCC	0.545													C	56291860	-	C	56291859	7	5	98	1	0	1	1	0	0	0	0	0	8352	855	30	0	338	0	KLF8	23	56291859	Frame_Shift_Ins	INS	-	TCGA-BR-8591-01A-11D-2394-08	3069550	56291859	98978701	1738	66068											
FAM123B	139285	broad.mit.edu	37	chrX	63411525	63411525	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgccccaggtggccgggAggacaaaaagggctcaaagt	14	10	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:63411525A>G	uc004dvo.2	-	2	1915	c.1642T>C	c.(1642-1644)TCC>CCC	p.S548P		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	548					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						GGTGGCCGGGAGGACAAAAAG	0.532													G	63411525	A	G	63411525	3	3	98	1	0	0	0	0	1	0	0	0	5423	304	11	3	1769	3	FAM123B	23	63411525	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	7119666	63411525	91859035	1739	66069											
ZC3H12B	340554	broad.mit.edu	37	chrX	64708739	64708739	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaagagtgcctccaaggaaGagaagcagcagcctaagcag	13	9	0	3			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:64708739G>A	uc010nko.2	+	1	34	c.25G>A	c.(25-27)GAG>AAG	p.E9K		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	9							endonuclease activity|nucleic acid binding|zinc ion binding			lung(1)|kidney(1)|pancreas(1)	3						CTCCAAGGAAGAGAAGCAGCA	0.498													A	64708739	G	A	64708739	3	1	98	1	0	0	0	0	1	0	0	0	17559	943	33	4	60	4	ZC3H12B	23	64708739	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	1297214	64708739	90561821	1740	66070											
HEPH	9843	broad.mit.edu	37	chrX	65428058	65428058	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcatggagtgctagaatctActactgtctggccactggct	10	11	3	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:65428058A>G	uc011moz.1	+	15	2602	c.2542A>G	c.(2542-2544)ACT>GCT	p.T848A	HEPH_uc004dwn.2_Missense_Mutation_p.T848A|HEPH_uc004dwo.2_Missense_Mutation_p.T578A|HEPH_uc010nkr.2_Missense_Mutation_p.T656A|HEPH_uc011mpa.1_Missense_Mutation_p.T848A|HEPH_uc010nks.2_Missense_Mutation_p.T137A	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	845	Extracellular (Potential).|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						GCTAGAATCTACTACTGTCTG	0.488													G	65428058	A	G	65428058	3	3	98	1	0	0	0	0	1	0	0	0	7054	391	14	3	2753	3	HEPH	23	65428058	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	719319	65428058	89842502	1741	66071											
NONO	4841	broad.mit.edu	37	chrX	70518613	70518613	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcctgtgccagctggtAccccagctcctccaggacct	9	18	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:70518613A>C	uc004dzo.2	+	12	1938	c.1228A>C	c.(1228-1230)ACC>CCC	p.T410P	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Missense_Mutation_p.T410P|NONO_uc004dzp.2_Missense_Mutation_p.T410P|NONO_uc011mpv.1_Missense_Mutation_p.T321P|NONO_uc004dzq.2_Missense_Mutation_p.T279P	NM_001145408	NP_001138880	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	410					DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	ovary(2)|kidney(2)	4	Renal(35;0.156)					GCCAGCTGGTACCCCAGCTCC	0.493			T	TFE3	papillary renal cancer								C	70518613	A	C	70518613	3	2	98	1	0	0	0	0	1	0	0	0	10534	391	14	5	1262	5	NONO	23	70518613	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	5090555	70518613	84751947	1742	66072											
ATRX	546	broad.mit.edu	37	chrX	76855269	76855269	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggctataaattcatccatActgtcttcatcaaaataacc	4	10	4	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:76855269A>G	uc004ecp.3	-	24	5950	c.5718T>C	c.(5716-5718)AGT>AGC	p.S1906S	ATRX_uc004ecq.3_Silent_p.S1868S|ATRX_uc004eco.3_Silent_p.S1691S	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1906					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	ATTCATCCATACTGTCTTCAT	0.308			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76855269	A	G	76855269	2	3	98	1	0	0	0	0	0	0	0	1	1208	388	14	3		3	ATRX	23	76855269	Silent	SNP	A	TCGA-BR-8591-01A-11D-2394-08	6336656	76855269	78415291	1743	66073											
PGK1	5230	broad.mit.edu	37	chrX	77359863	77359863	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttctaacaagctgacgcTggacaagctggacgttaaag	11	9	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:77359863T>G	uc004ecz.3	+	1	198	c.26T>G	c.(25-27)CTG>CGG	p.L9R	PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_5'Flank	NM_000291	NP_000282	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	9					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			upper_aerodigestive_tract(1)|ovary(1)	2						AAGCTGACGCTGGACAAGCTG	0.567													G	77359863	T	G	77359863	3	3	98	1	0	0	0	0	1	0	0	0	11790	1580	55	5	28	5	PGK1	23	77359863	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	504594	77359863	77910697	1744	66074											
RPS6KA6	27330	broad.mit.edu	37	chrX	83359598	83359598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatttttgtttgagaataCggtcaagtaactctcctcct	6	9	2	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:83359598C>T	uc004eej.1	-	17	1600	c.1523G>A	c.(1522-1524)CGT>CAT	p.R508H	RPS6KA6_uc011mqt.1_Missense_Mutation_p.R508H|RPS6KA6_uc011mqu.1_Missense_Mutation_p.R405H	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	508	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						TTTGAGAATACGGTCAAGTAA	0.333													T	83359598	C	T	83359598	3	4	98	1	0	0	0	0	1	0	0	0	13655	536	19	1	738	1	RPS6KA6	23	83359598	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	5999735	83359598	71910962	1745	66075											
KLHL4	56062	broad.mit.edu	37	chrX	86888892	86888892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctagaagcacagttggtGttgttgcattaaacaacaag	9	8	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:86888892G>A	uc004efb.2	+	8	1875	c.1693G>A	c.(1693-1695)GTT>ATT	p.V565I	KLHL4_uc004efa.2_Missense_Mutation_p.V565I	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	565	Kelch 3.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CACAGTTGGTGTTGTTGCATT	0.418													A	86888892	G	A	86888892	3	1	98	1	0	0	0	0	1	0	0	0	8391	1377	48	4	1723	4	KLHL4	23	86888892	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3529294	86888892	68381668	1746	66076											
DIAPH2	1730	broad.mit.edu	37	chrX	96013243	96013243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttgtccagtatatttctGccactgccaaatctgtaagt	8	9	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:96013243G>A	uc004efu.3	+	4	829	c.433G>A	c.(433-435)GCC>ACC	p.A145T	DIAPH2_uc004eft.3_Missense_Mutation_p.A145T|DIAPH2_uc004efs.2_Missense_Mutation_p.A145T	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	145	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						GTATATTTCTGCCACTGCCAA	0.388													A	96013243	G	A	96013243	3	1	98	1	0	0	0	0	1	0	0	0	4519	1319	46	2	447	2	DIAPH2	23	96013243	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	9124351	96013243	59257317	1747	66077											
RPA4	29935	broad.mit.edu	37	chrX	96139267	96139267	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtccgtggagccccagaCgagccaaagcccaccttctc	10	18	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:96139267C>T	uc004efv.3	+	1	256	c.-42C>T	c.(-44--40)GACGA>GATGA		DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	replication protein A4, 34kDa						DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding				0						GAGCCCCAGACGAGCCAAAGC	0.557								Other_identified_genes_with_known_or_suspected_DNA_repair_function					T	96139267	C	T	96139267	1	4	98	1	0	0	0	0	0	0	0	0	13539	551	19	1		1	RPA4	23	96139267	Translation_Start_Site	SNP	C	TCGA-BR-8591-01A-11D-2394-08	126024	96139267	59131293	1748	66078											
PCDH19	57526	broad.mit.edu	37	chrX	99663287	99663287	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attgagctggacatgacctcGagcgagatgatgcacttggg	14	8	0	4			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:99663287G>A	uc010nmz.2	-	1	1985	c.309C>T	c.(307-309)CTC>CTT	p.L103L	PCDH19_uc004efw.3_Silent_p.L103L|PCDH19_uc004efx.3_Silent_p.L103L	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	103	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						ACATGACCTCGAGCGAGATGA	0.557													A	99663287	G	A	99663287	2	1	98	1	0	0	0	0	0	0	0	1	11514	1045	37	1		1	PCDH19	23	99663287	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	3524020	99663287	55607273	1749	66079											
TIMM8A	1678	broad.mit.edu	37	chrX	100601606	100601606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcacaaaacaggcctcagCccgactgtccaactttggcc	8	15	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:100601606C>T	uc004ehd.2	-	2	480	c.175G>A	c.(175-177)GCT>ACT	p.A59T		NM_004085	NP_004076	O60220	TIM8A_HUMAN	translocase of inner mitochondrial membrane 8	59	Twin CX3C motif.				nervous system development|protein import into mitochondrial inner membrane|transmembrane transport	mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex	protein binding				0						CAGGCCTCAGCCCGACTGTCC	0.488													T	100601606	C	T	100601606	3	4	98	1	0	0	0	0	1	0	0	0	15911	739	26	2	122	2	TIMM8A	23	100601606	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	938319	100601606	54668954	1750	66080											
COL4A5	1287	broad.mit.edu	37	chrX	107867516	107867516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagggtttgcctggagacCcagggcaacctggactgagt	14	10	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:107867516C>T	uc004enz.1	+	34	3170	c.2968C>T	c.(2968-2970)CCA>TCA	p.P990S	COL4A5_uc011mso.1_Missense_Mutation_p.P990S|COL4A5_uc004eob.1_Missense_Mutation_p.P598S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	990	Triple-helical region.		Missing (in APSX; adult type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						GCCTGGAGACCCAGGGCAACC	0.468									Alport_syndrome_with_Diffuse_Leiomyomatosis				T	107867516	C	T	107867516	3	4	98	1	0	0	0	0	1	0	0	0	3694	623	22	4	3102	4	COL4A5	23	107867516	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	7265910	107867516	47403044	1751	66081											
AMOT	154796	broad.mit.edu	37	chrX	112054536	112054536	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccctctagcttgtttctcAtggctttctctagggcctct	8	14	4	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:112054536A>G	uc004epr.2	-	3	1478	c.1478T>C	c.(1477-1479)ATG>ACG	p.M493T	AMOT_uc004eps.2_Missense_Mutation_p.M84T|AMOT_uc004ept.1_Missense_Mutation_p.M493T	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	493	Potential.				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						CTTGTTTCTCATGGCTTTCTC	0.478													G	112054536	A	G	112054536	3	3	98	1	0	0	0	0	1	0	0	0	582	217	8	3	1812	3	AMOT	23	112054536	Missense_Mutation	SNP	A	TCGA-BR-8591-01A-11D-2394-08	4187020	112054536	43216024	1752	66082											
ODZ1	10178	broad.mit.edu	37	chrX	123519752	123519752	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagtcttggataaaagaagTgctactgtccggtggggtgt	14	5	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:123519752T>C	uc004euj.2	-	28	5894	c.5830A>G	c.(5830-5832)ACT>GCT	p.T1944A	ODZ1_uc011muj.1_Missense_Mutation_p.T1950A|ODZ1_uc010nqy.2_Missense_Mutation_p.T1951A	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1944	YD 10.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						ATAAAAGAAGTGCTACTGTCC	0.512													C	123519752	T	C	123519752	3	2	98	1	0	0	0	0	1	0	0	0	10834	1696	59	3	2363	3	ODZ1	23	123519752	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	11465216	123519752	31750808	1753	66083											
RAP2C	57826	broad.mit.edu	37	chrX	131351324	131351324	+	Translation_Start_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accttcaccaactcctaccaGagggggggaaagatcacccc	9	15	2	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:131351324G>T	uc004ewp.2	-	2	757	c.-27C>A	c.(-29--25)CTCTG>CTATG		uc004ewr.1_5'Flank|RAP2C_uc004ewo.2_Translation_Start_Site|RAP2C_uc010nrk.2_RNA|RAP2C_uc004ewq.3_Translation_Start_Site	NM_021183	NP_067006	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family precursor						negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					ACTCCTACCAGAGGGGGGGAA	0.488													T	131351324	G	T	131351324	1	4	98	1	0	0	0	0	0	0	0	0	13042	957	33	5		5	RAP2C	23	131351324	Translation_Start_Site	SNP	G	TCGA-BR-8591-01A-11D-2394-08	7831572	131351324	23919236	1754	66084											
HS6ST2	90161	broad.mit.edu	37	chrX	131762868	131762868	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagagaggttgtagcagcCtaccagggtcaggtcggaga	16	8	1	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:131762868C>A	uc011mve.1	-	4	1617	c.1201G>T	c.(1201-1203)GGC>TGC	p.G401C	HS6ST2_uc011mvb.1_Missense_Mutation_p.G295C|HS6ST2_uc011mvc.1_Missense_Mutation_p.G255C|HS6ST2_uc011mvd.1_Missense_Mutation_p.G441C|HS6ST2_uc011mva.1_Missense_Mutation_p.G127C	NM_147175	NP_671704	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2 isoform	401	Lumenal (Potential).					integral to membrane	sulfotransferase activity				0	Acute lymphoblastic leukemia(192;0.000127)					TTGTAGCAGCCTACCAGGGTC	0.532													A	131762868	C	A	131762868	3	1	98	1	0	0	0	0	1	0	0	0	7371	681	24	5	620	5	HS6ST2	23	131762868	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	411544	131762868	23507692	1755	66085											
GPC3	2719	broad.mit.edu	37	chrX	132888179	132888179	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattggtgtagttcttggcaTggcgaacaacaatttcaaag	10	7	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:132888179T>C	uc004exe.1	-	3	552	c.362A>G	c.(361-363)CAT>CGT	p.H121R	GPC3_uc004exd.1_5'UTR|GPC3_uc010nrn.1_Missense_Mutation_p.H121R|GPC3_uc011mvh.1_Missense_Mutation_p.H105R|GPC3_uc010nro.1_Missense_Mutation_p.H67R|GPC3_uc010nrp.1_5'UTR	NM_004484	NP_004475	P51654	GPC3_HUMAN	glypican 3 isoform 2 precursor	121						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			lung(2)|prostate(1)|breast(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					GTTCTTGGCATGGCGAACAAC	0.363			T|D|Mis|N|F|S			Wilms tumour			Simpson-Golabi-Behmel_syndrome				C	132888179	T	C	132888179	3	2	98	1	0	0	0	0	1	0	0	0	6599	1464	51	3	1477	3	GPC3	23	132888179	Missense_Mutation	SNP	T	TCGA-BR-8591-01A-11D-2394-08	1125311	132888179	22382381	1756	66086											
MAP7D3	79649	broad.mit.edu	37	chrX	135314194	135314194	+	Frame_Shift_Del	DEL	G	G	-													gaatacttccacattcacctGggggggtgcatccacacttg							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:135314193_135314193TG>T	uc004ezt.3	-	7	1144	c.923_923CA>A	c.(922-924)cagfs	p.Q308fs	MAP7D3_uc004ezs.3_Frame_Shift_Del_p.Q273fs|MAP7D3_uc011mwc.2_Frame_Shift_Del_p.Q290fs|MAP7D3_uc010nsa.2_Frame_Shift_Del_p.Q266fs	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGC	0.537													-	135314194	G	-	135314194	7	5	98	1	0	1	0	1	0	0	0	0	9269	1357	47	0	1752	0	MAP7D3	23	135314194	Frame_Shift_Del	DEL	G	TCGA-BR-8591-01A-11D-2394-08	2426015	135314194	19956366	1757	66087											
GPR112	139378	broad.mit.edu	37	chrX	135431510	135431510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaacctctgcttatgacttCctggaacatacccacagctg	6	15	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:135431510C>T	uc004ezu.1	+	6	5936	c.5645C>T	c.(5644-5646)TCC>TTC	p.S1882F	GPR112_uc010nsb.1_Missense_Mutation_p.S1677F|GPR112_uc010nsc.1_Missense_Mutation_p.S1649F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1882	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					CTTATGACTTCCTGGAACATA	0.433													T	135431510	C	T	135431510	3	4	98	1	0	0	0	0	1	0	0	0	6629	855	30	4	5655	4	GPR112	23	135431510	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	117316	135431510	19839050	1758	66088											
ARHGEF6	9459	broad.mit.edu	37	chrX	135763009	135763009	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcctggttgttgttacaatGgaccacaattctctccactg	8	11	1	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:135763009G>T	uc004fab.2	-	15	2047	c.1585C>A	c.(1585-1587)CAT>AAT	p.H529N	ARHGEF6_uc011mwd.1_Missense_Mutation_p.H402N|ARHGEF6_uc011mwe.1_Missense_Mutation_p.H375N	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	529	PH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					TTGTTACAATGGACCACAATT	0.433													T	135763009	G	T	135763009	3	4	98	1	0	0	0	0	1	0	0	0	910	1348	47	5	777	5	ARHGEF6	23	135763009	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	331499	135763009	19507551	1759	66089											
MAGEC3	139081	broad.mit.edu	37	chrX	140953263	140953263	+	Frame_Shift_Del	DEL	A	A	-													tttgacctgagtagccccggAaaaaggccacagataaggac							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:140953262_140953262GA>G	uc011mwp.2	+	1	129	c.129_129GA>G	c.(127-129)cggfs	p.R43fs		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	43										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AGTAGCCCCGGAAAAAGGCCA	0.488													-	140953263	A	-	140953263	7	5	98	1	0	1	0	1	0	0	0	0	9182	247	9	0	136	0	MAGEC3	23	140953263	Frame_Shift_Del	DEL	A	TCGA-BR-8591-01A-11D-2394-08	5190254	140953263	14317297	1760	66090											
IDS	3423	broad.mit.edu	37	chrX	148579680	148579680	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcttatgatacccaacGgccaggaagaaaggactggc	13	9	0	2			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:148579680G>A	uc011mxe.1	-	5	864	c.666C>T	c.(664-666)GCC>GCT	p.A222A	IDS_uc011mxf.1_Silent_p.A132A|IDS_uc011mxg.1_Silent_p.A11A|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Silent_p.A11A|IDS_uc011mxh.1_Silent_p.A222A|IDS_uc011mxi.1_RNA	NM_000202	NP_000193	P22304	IDS_HUMAN	iduronate-2-sulfatase isoform a precursor	222						lysosome	iduronate-2-sulfatase activity|metal ion binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GATACCCAACGGCCAGGAAGA	0.512													A	148579680	G	A	148579680	2	1	98	1	0	0	0	0	0	0	0	1	7503	1103	39	1		1	IDS	23	148579680	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	7626417	148579680	6690880	1761	66091											
SRPK3	26576	broad.mit.edu	37	chrX	153050931	153050931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacatccccgaaaagcggGccagtgccgctgactgcctc	11	15	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:153050931G>A	uc004fil.2	+	15	1692	c.1660G>A	c.(1660-1662)GCC>ACC	p.A554T	SRPK3_uc004fik.2_Missense_Mutation_p.A620T|SRPK3_uc010nul.2_Missense_Mutation_p.A478T|SRPK3_uc004fin.2_Missense_Mutation_p.A553T|SRPK3_uc004fim.2_Missense_Mutation_p.A520T	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	serine arginine rich protein-specific kinase 3	554	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			pancreas(2)|lung(1)	3	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGAAAAGCGGGCCAGTGCCGC	0.617													A	153050931	G	A	153050931	3	1	98	1	0	0	0	0	1	0	0	0	15160	1203	42	2	1718	2	SRPK3	23	153050931	Missense_Mutation	SNP	G	TCGA-BR-8591-01A-11D-2394-08	4471251	153050931	2219629	1762	66092											
PDZD4	57595	broad.mit.edu	37	chrX	153073928	153073928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagctgcaggtcgtgacaGgagctgtccccccggaggcg	15	14	0	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:153073928G>A	uc004fiz.1	-	2	433	c.183C>T	c.(181-183)TCC>TCT	p.S61S	PDZD4_uc004fiy.1_5'UTR|PDZD4_uc004fix.2_5'UTR|PDZD4_uc004fja.1_Silent_p.S61S|PDZD4_uc011mze.1_Intron	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	61						cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTCGTGACAGGAGCTGTCCC	0.662													A	153073928	G	A	153073928	2	1	98	1	0	0	0	0	0	0	0	1	11703	987	35	4		4	PDZD4	23	153073928	Silent	SNP	G	TCGA-BR-8591-01A-11D-2394-08	22997	153073928	2196632	1763	66093											
HCFC1	3054	broad.mit.edu	37	chrX	153220508	153220508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcagtgttggtggtgccCgtctcgtgggtctcgcaggg	19	9	2	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:153220508C>T	uc004fjp.2	-	17	3870	c.3342G>A	c.(3340-3342)ACG>ACA	p.T1114T		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1114	HCF repeat 3.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGTGGTGCCCGTCTCGTGGG	0.567													T	153220508	C	T	153220508	2	4	98	1	0	0	0	0	0	0	0	1	6991	639	23	1		1	HCFC1	23	153220508	Silent	SNP	C	TCGA-BR-8591-01A-11D-2394-08	146580	153220508	2050052	1764	66094											
FLNA	2316	broad.mit.edu	37	chrX	153587361	153587361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacactcacctttgggccCttgcactttgacctgcaatg	7	14	1	1			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:153587361C>T	uc004fkk.2	-	26	4714	c.4465G>A	c.(4465-4467)GGG>AGG	p.G1489R	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.G1489R	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1489	Filamin 13.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTTTGGGCCCTTGCACTTTG	0.617													T	153587361	C	T	153587361	3	4	98	1	0	0	0	0	1	0	0	0	5933	681	24	4	3570	4	FLNA	23	153587361	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	366853	153587361	1683199	1765	66095											
RPL10	6134	broad.mit.edu	37	chrX	153631740	153631740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactgcaaggcccagggacCgagggctgccatccactcct	13	15	0	0			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:153631740C>T	uc004fkr.1	+	3	439	c.404C>T	c.(403-405)CCG>CTG	p.P135L	RPL10_uc004fkq.1_RNA|DNASE1L1_uc004fks.1_Intron|DNASE1L1_uc004fkt.1_Intron|DNASE1L1_uc004fku.1_Intron|DNASE1L1_uc004fkv.1_Intron|DNASE1L1_uc004fkw.1_Intron	NM_006013	NP_006004	P27635	RL10_HUMAN	ribosomal protein L10	Error:Variant_position_missing_in_P27635_after_alignment					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCAGGGACCGAGGGCTGCC	0.627													T	153631740	C	T	153631740	3	4	98	1	0	0	0	0	1	0	0	0	13554	667	23	1		1	RPL10	23	153631740	Missense_Mutation	SNP	C	TCGA-BR-8591-01A-11D-2394-08	44379	153631740	1638820	1766	66096											
USP9Y	8287	broad.mit.edu	37	chrY	14847611	14847611	+	Frame_Shift_Del	DEL	T	T	-													ttccagattttgcatgatcgTttttttaatggatcagcatt							TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrY:14847611delT	uc004fst.1	+	8	1668	c.723delT	c.(721-723)CGTfs	p.R241fs	USP9Y_uc010nwu.1_RNA	NM_004654	NP_004645	O00507	USP9Y_HUMAN	ubiquitin specific protease 9, Y-linked	241					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						TGCATGATCGTTTTTTTAATG	0.279													-	14847611	T	-	14847611	7	5	98	1	0	1	0	1	0	0	0	0	17088	1712	60	0	745	0	USP9Y	24	14847611	Frame_Shift_Del	DEL	T	TCGA-BR-8591-01A-11D-2394-08		14847611	44525955	1767	66097											
CHD5	26038	broad.mit.edu	37	chr1	6194862	6194862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcgatacttggttcccGccccccttggagttcagtgc	11	14	1	0			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr1:6194862G>A	uc001amb.1	-	19	3028	c.2928C>T	c.(2926-2928)GGC>GGT	p.G976G	CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	976					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTTGGTTCCCGCCCCCCTTGG	0.582													A	6194862	G	A	6194862	2	1	99	1	0	0	0	0	0	0	0	1	3328	1074	38	1		1	CHD5	1	6194862	Silent	SNP	G	TCGA-BR-8592-01A-11D-2394-08		6194862	243055759	1	66098											
RPL22	6146	broad.mit.edu	37	chr1	6253081	6253081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaaggttcccagcttttcCgttcactttgatcctttctt	5	13	2	1			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr1:6253081C>T	uc001amd.2	-	3	197	c.151G>A	c.(151-153)GGA>AGA	p.G51R	RPL22_uc001ame.2_Missense_Mutation_p.G51R	NM_000983	NP_000974	P35268	RL22_HUMAN	ribosomal protein L22 proprotein	51					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome				0	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCAGCTTTTCCGTTCACTTTG	0.443			T	RUNX1	AML|CML								T	6253081	C	T	6253081	3	4	99	1	0	0	0	0	1	0	0	0	13568	661	23	1	243	1	RPL22	1	6253081	Missense_Mutation	SNP	C	TCGA-BR-8592-01A-11D-2394-08	58219	6253081	242997540	2	66099											
C1orf173	127254	broad.mit.edu	37	chr1	75072545	75072545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttttctttcctagatttcGgcaaagacggttttttgtca	7	8	3	2			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr1:75072545G>A	uc001dgg.2	-	10	1448	c.1229C>T	c.(1228-1230)CCG>CTG	p.P410L	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.P204L	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	410										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						CCTAGATTTCGGCAAAGACGG	0.408													A	75072545	G	A	75072545	3	1	99	1	0	0	0	0	1	0	0	0	2014	1116	39	1	3383	1	C1orf173	1	75072545	Missense_Mutation	SNP	G	TCGA-BR-8592-01A-11D-2394-08	68819464	75072545	174178076	3	66100											
PAPPA2	60676	broad.mit.edu	37	chr1	176769239	176769239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaatggcacccagaccccGtcttagtccactgcatccag	8	16	2	1			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr1:176769239G>A	uc001gkz.2	+	21	6337	c.5173G>A	c.(5173-5175)GTC>ATC	p.V1725I	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1725	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						CCCAGACCCCGTCTTAGTCCA	0.478													A	176769239	G	A	176769239	3	1	99	1	0	0	0	0	1	0	0	0	11433	1145	40	1	5304	1	PAPPA2	1	176769239	Missense_Mutation	SNP	G	TCGA-BR-8592-01A-11D-2394-08	101696694	176769239	72481382	4	66101											
ZC3H11A	9877	broad.mit.edu	37	chr1	203797521	203797521	+	Frame_Shift_Del	DEL	T	T	-													tcacaatagaggacgatatgTtgatggccttttcctacctc							TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr1:203797521delT	uc001hac.2	+	7	885	c.269delT	c.(268-270)GTTfs	p.V90fs	ZC3H11A_uc001had.2_Frame_Shift_Del_p.V90fs|ZC3H11A_uc001hae.2_Frame_Shift_Del_p.V90fs|ZC3H11A_uc001haf.2_Frame_Shift_Del_p.V90fs|ZC3H11A_uc010pqm.1_Frame_Shift_Del_p.V36fs|ZC3H11A_uc001hag.1_Frame_Shift_Del_p.V90fs	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	90							nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGACGATATGTTGATGGCCTT	0.289													-	203797521	T	-	203797521	7	5	99	1	0	1	0	1	0	0	0	0	17557	1725	60	0	279	0	ZC3H11A	1	203797521	Frame_Shift_Del	DEL	T	TCGA-BR-8592-01A-11D-2394-08	27028282	203797521	45453100	5	66102											
CR1	1378	broad.mit.edu	37	chr1	207753744	207753744	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagggagactggagccctgAagccccgagatgtgcaggtg	16	11	0	3			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr1:207753744A>C	uc001hfy.2	+	22	3886	c.3746A>C	c.(3745-3747)GAA>GCA	p.E1249A	CR1_uc009xcl.1_Missense_Mutation_p.E799A|CR1_uc001hfx.2_Missense_Mutation_p.E1699A	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1249	Extracellular (Potential).|Sushi 19.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TGGAGCCCTGAAGCCCCGAGA	0.507													C	207753744	A	C	207753744	3	2	99	1	0	0	0	0	1	0	0	0	3840	246	9	5	5214	5	CR1	1	207753744	Missense_Mutation	SNP	A	TCGA-BR-8592-01A-11D-2394-08	3956223	207753744	41496877	6	66103											
POTEE	445582	broad.mit.edu	37	chr2	132021446	132021446	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaccccatcctgctgacCgaggcccccctgaaccccaa	8	20	0	2			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr2:132021446C>T	uc002tsn.2	+	15	2470	c.2418C>T	c.(2416-2418)ACC>ACT	p.T806T	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.T406T|POTEE_uc002tsl.2_Silent_p.T388T|POTEE_uc010fmy.1_Silent_p.T270T	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	806	Actin-like.						ATP binding				0						TCCTGCTGACCGAGGCCCCCC	0.597													T	132021446	C	T	132021446	2	4	99	1	0	0	0	0	0	0	0	1	12264	639	23	1		1	POTEE	2	132021446	Silent	SNP	C	TCGA-BR-8592-01A-11D-2394-08		132021446	111177927	7	66104											
TTN	7273	broad.mit.edu	37	chr2	179640850	179640850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacaccttcaggattttccGcggtgaccttcacttcacct	6	15	4	1			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr2:179640850G>A	uc010zfg.1	-	28	5965	c.5741C>T	c.(5740-5742)GCG>GTG	p.A1914V	TTN_uc010zfh.1_Missense_Mutation_p.A1868V|TTN_uc010zfi.1_Missense_Mutation_p.A1868V|TTN_uc010zfj.1_Missense_Mutation_p.A1868V|TTN_uc002unb.2_Missense_Mutation_p.A1914V|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1914							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A1914V(2)|p.A1868V(1)		ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGATTTTCCGCGGTGACCTT	0.458													A	179640850	G	A	179640850	3	1	99	1	0	0	0	0	1	0	0	0	16732	1087	38	1	105587	1	TTN	2	179640850	Missense_Mutation	SNP	G	TCGA-BR-8592-01A-11D-2394-08	47619404	179640850	63558523	8	66105											
DNAH7	56171	broad.mit.edu	37	chr2	196689076	196689076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caattgtggagtccccaagcCggatacatgtactcccaccc	8	15	0	0			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr2:196689076C>T	uc002utj.3	-	49	9295	c.9194G>A	c.(9193-9195)CGG>CAG	p.R3065Q		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3065	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						GTCCCCAAGCCGGATACATGT	0.413													T	196689076	C	T	196689076	3	4	99	1	0	0	0	0	1	0	0	0	4606	652	23	1	2948	1	DNAH7	2	196689076	Missense_Mutation	SNP	C	TCGA-BR-8592-01A-11D-2394-08	17048226	196689076	46510297	9	66106											
C3orf20	84077	broad.mit.edu	37	chr3	14744671	14744671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaagatgtcagcatgccGcccctgcatcgaggagtggg	14	11	1	2			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr3:14744671G>A	uc003byy.2	+	6	1184	c.780G>A	c.(778-780)CCG>CCA	p.P260P	C3orf20_uc003byz.2_Silent_p.P138P|C3orf20_uc003bza.2_Silent_p.P138P|C3orf20_uc003byx.1_Silent_p.P260P	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	260						cytoplasm|integral to membrane				ovary(3)|skin(1)	4						TCAGCATGCCGCCCCTGCATC	0.463													A	14744671	G	A	14744671	2	1	99	1	0	0	0	0	0	0	0	1	2213	1074	38	1		1	C3orf20	3	14744671	Silent	SNP	G	TCGA-BR-8592-01A-11D-2394-08		14744671	183277759	10	66107											
MTMR12	54545	broad.mit.edu	37	chr5	32239240	32239240	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtccatcatcagttgcaccAgagaggaaatgagacagcag	12	9	2	2			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr5:32239240A>C	uc003jhq.2	-	13	1381	c.1211T>G	c.(1210-1212)CTG>CGG	p.L404R	MTMR12_uc010iuk.2_Missense_Mutation_p.L404R|MTMR12_uc010iul.2_Missense_Mutation_p.L404R	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	404	Myotubularin phosphatase.					cytoplasm	phosphatase activity			ovary(1)	1						CAGTTGCACCAGAGAGGAAAT	0.512													C	32239240	A	C	32239240	3	2	99	1	0	0	0	0	1	0	0	0	9941	188	7	5	1048	5	MTMR12	5	32239240	Missense_Mutation	SNP	A	TCGA-BR-8592-01A-11D-2394-08		32239240	148676020	11	66108											
CMYA5	202333	broad.mit.edu	37	chr5	79025999	79025999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagggcagaaccagtctccGcaaaactgacccctacccat	7	15	1	2	rs114134827	by1000genomes	TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr5:79025999G>A	uc003kgc.2	+	2	1483	c.1411G>A	c.(1411-1413)GCA>ACA	p.A471T		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	471						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACCAGTCTCCGCAAAACTGAC	0.512													A	79025999	G	A	79025999	3	1	99	1	0	0	0	0	1	0	0	0	3590	1087	38	1	1417	1	CMYA5	5	79025999	Missense_Mutation	SNP	G	TCGA-BR-8592-01A-11D-2394-08	46786759	79025999	101889261	12	66109											
TNXB	7148	broad.mit.edu	37	chr6	32052314	32052314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgctggggtccttccacGggcaccacctggggctgccc	15	16	0	0			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr6:32052314G>A	uc003nzl.2	-	8	3523	c.3321C>T	c.(3319-3321)CCC>CCT	p.P1107P		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1194	Fibronectin type-III 4.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GTCCTTCCACGGGCACCACCT	0.612													A	32052314	G	A	32052314	2	1	99	1	0	0	0	0	0	0	0	1	16343	1103	39	1		1	TNXB	6	32052314	Silent	SNP	G	TCGA-BR-8592-01A-11D-2394-08		32052314	139062753	13	66110											
ADRA1A	148	broad.mit.edu	37	chr8	26722428	26722428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccttggaaatgttcaccGgtgccggcggttgggtgcag	17	9	1	0			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr8:26722428G>A	uc003xfh.1	-	1	495	c.59C>T	c.(58-60)CCG>CTG	p.P20L	ADRA1A_uc003xfc.1_Missense_Mutation_p.P20L|ADRA1A_uc010lul.1_Missense_Mutation_p.P20L|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.P20L|ADRA1A_uc010lum.1_Missense_Mutation_p.P20L|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.P20L	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	20	Extracellular (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	AATGTTCACCGGTGCCGGCGG	0.617													A	26722428	G	A	26722428	3	1	99	1	0	0	0	0	1	0	0	0	334	1116	39	1	1640	1	ADRA1A	8	26722428	Missense_Mutation	SNP	G	TCGA-BR-8592-01A-11D-2394-08		26722428	119641594	14	66111											
POTEA	340441	broad.mit.edu	37	chr8	43197470	43197470	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caactcaaaatggattttaaCggtaggaccattgcataagt	8	7	1	0			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr8:43197470C>A	uc003xpz.1	+	11	1402	c.1359C>A	c.(1357-1359)AAC>AAA	p.N453K	POTEA_uc003xqa.1_Missense_Mutation_p.N407K	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	453										ovary(1)	1						TGGATTTTAACGGTAGGACCA	0.373													A	43197470	C	A	43197470	3	1	99	1	0	0	0	0	1	0	0	0	12261	550	19	5	1401	5	POTEA	8	43197470	Missense_Mutation	SNP	C	TCGA-BR-8592-01A-11D-2394-08	16475042	43197470	103166552	15	66112											
PLAG1	5324	broad.mit.edu	37	chr8	57079229	57079229	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccttgtaactccatcaggTaactctcaatttcccccttt	3	15	2	0			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr8:57079229T>C	uc003xsq.3	-	3	1527	c.1076A>G	c.(1075-1077)TAC>TGC	p.Y359C	PLAG1_uc003xsr.3_Missense_Mutation_p.Y359C|PLAG1_uc010lyi.2_Missense_Mutation_p.Y359C|PLAG1_uc010lyj.2_Missense_Mutation_p.Y277C	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	359	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CTCCATCAGGTAACTCTCAAT	0.443			T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma								C	57079229	T	C	57079229	3	2	99	1	0	0	0	0	1	0	0	0	12018	1638	57	3	430	3	PLAG1	8	57079229	Missense_Mutation	SNP	T	TCGA-BR-8592-01A-11D-2394-08	13881759	57079229	89284793	16	66113											
CHD7	55636	broad.mit.edu	37	chr8	61654739	61654739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcatggcaccttccttgCgtcactcggtgcagcagttc	10	15	1	0			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr8:61654739C>T	uc003xue.2	+	2	1225	c.748C>T	c.(748-750)CGT>TGT	p.R250C		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	250					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACCTTCCTTGCGTCACTCGGT	0.582													T	61654739	C	T	61654739	3	4	99	1	0	0	0	0	1	0	0	0	3330	768	27	1	750	1	CHD7	8	61654739	Missense_Mutation	SNP	C	TCGA-BR-8592-01A-11D-2394-08	4575510	61654739	84709283	17	66114											
COL22A1	169044	broad.mit.edu	37	chr8	139737660	139737660	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cccggtccaggggggcctggGacaccagggggtcctggagg	20	12	0	0			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr8:139737660G>T	uc003yvd.2	-	24	2610	c.2163C>A	c.(2161-2163)GTC>GTA	p.V721V	COL22A1_uc011ljo.1_Silent_p.V21V	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	721	Collagen-like 5.|Pro-rich.|Gly-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.V721A(1)		ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGGGCCTGGGACACCAGGGG	0.587										HNSCC(7;0.00092)			T	139737660	G	T	139737660	2	4	99	1	0	0	0	0	0	0	0	1	3681	1161	41	5		5	COL22A1	8	139737660	Silent	SNP	G	TCGA-BR-8592-01A-11D-2394-08	78082921	139737660	6626362	18	66115											
SEMA4G	57715	broad.mit.edu	37	chr10	102737410	102737410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagtgctttaaccatgtgCggttcctgcagcggctcaat	12	11	1	0	rs145690277		TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr10:102737410C>T	uc010qpt.1	+	5	801	c.358C>T	c.(358-360)CGG>TGG	p.R120W	SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krw.1_Missense_Mutation_p.R120W|SEMA4G_uc001krx.2_Missense_Mutation_p.R120W	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	semaphorin 4G	120	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TAACCATGTGCGGTTCCTGCA	0.527													T	102737410	C	T	102737410	3	4	99	1	0	0	0	0	1	0	0	0	14036	759	27	1	372	1	SEMA4G	10	102737410	Missense_Mutation	SNP	C	TCGA-BR-8592-01A-11D-2394-08		102737410	32797337	19	66116											
ZP1	22917	broad.mit.edu	37	chr11	60640735	60640735	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgacccagcccggccccCtgcggcttgagctgcggatt	12	16	0	2			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr11:60640735C>T	uc001nqd.2	+	7	1233	c.1213C>T	c.(1213-1215)CTG>TTG	p.L405L	ZP1_uc001nqe.2_Silent_p.L112L	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	405	Extracellular (Potential).|ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0						GCCCGGCCCCCTGCGGCTTGA	0.602													T	60640735	C	T	60640735	2	4	99	1	0	0	0	0	0	0	0	1	18212	680	24	4		4	ZP1	11	60640735	Silent	SNP	C	TCGA-BR-8592-01A-11D-2394-08		60640735	74365781	20	66117											
KRT86	3892	broad.mit.edu	37	chr12	52695729	52695729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatcttactgtggtggccGcgccttcagctgcatctcgg	13	12	3	0			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr12:52695729G>A	uc010snq.1	+	2	162	c.29G>A	c.(28-30)CGC>CAC	p.R10H	KRT86_uc009zmg.2_Missense_Mutation_p.R10H|KRT81_uc001sac.2_Intron|KRT86_uc001sad.2_Missense_Mutation_p.R10H	NM_002284	NP_002275	O43790	KRT86_HUMAN	keratin 86	10	Head.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTGGTGGCCGCGCCTTCAGC	0.662													A	52695729	G	A	52695729	3	1	99	1	0	0	0	0	1	0	0	0	8500	1087	38	1	31	1	KRT86	12	52695729	Missense_Mutation	SNP	G	TCGA-BR-8592-01A-11D-2394-08		52695729	81156166	21	66118											
PLXNC1	10154	broad.mit.edu	37	chr12	94642052	94642052	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagacattgaaattactcTcttccatggggaaaatgggc	9	7	1	2			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr12:94642052T>C	uc001tdc.2	+	14	2891	c.2642T>C	c.(2641-2643)CTC>CCC	p.L881P		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	881	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						GAAATTACTCTCTTCCATGGG	0.323													C	94642052	T	C	94642052	3	2	99	1	0	0	0	0	1	0	0	0	12126	1551	54	3	2696	3	PLXNC1	12	94642052	Missense_Mutation	SNP	T	TCGA-BR-8592-01A-11D-2394-08	41946323	94642052	39209843	22	66119											
ATP12A	479	broad.mit.edu	37	chr13	25274960	25274960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagacgctatgaactttcCgacctccaacctctgttttg	6	13	1	2			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr13:25274960C>T	uc001upp.2	+	13	1968	c.1781C>T	c.(1780-1782)CCG>CTG	p.P594L	ATP12A_uc010aaa.2_Missense_Mutation_p.P600L	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	594	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ATGAACTTTCCGACCTCCAAC	0.488													T	25274960	C	T	25274960	3	4	99	1	0	0	0	0	1	0	0	0	1122	652	23	1	1849	1	ATP12A	13	25274960	Missense_Mutation	SNP	C	TCGA-BR-8592-01A-11D-2394-08		25274960	89894918	23	66120											
OR4M1	441670	broad.mit.edu	37	chr14	20248864	20248864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgctatgctgctatctgccGacccctccactatgctacca	6	18	1	0			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr14:20248864G>A	uc010tku.1	+	1	383	c.383G>A	c.(382-384)CGA>CAA	p.R128Q		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTATCTGCCGACCCCTCCAC	0.512													A	20248864	G	A	20248864	3	1	99	1	0	0	0	0	1	0	0	0	11075	1058	37	1	385	1	OR4M1	14	20248864	Missense_Mutation	SNP	G	TCGA-BR-8592-01A-11D-2394-08		20248864	87100676	24	66121											
TECPR2	9895	broad.mit.edu	37	chr14	102904453	102904469	+	Frame_Shift_Del	DEL	GCGGCCTGTTCTGCAGC	GCGGCCTGTTCTGCAGC	-													ctggtgcctggactacaaagGcggcctgttctgcagcgcgt					rs12890730		TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr14:102904452_102904468GGCGGCCTGTTCTGCAGC>G	uc001ylw.2	+	9	2714_2730	c.2488_2504GGCGGCCTGTTCTGCAGC>G	c.(2488-2505)ggcggcctgttctgcagcfs	p.G830fs	TECPR2_uc010awl.3_Frame_Shift_Del_p.G830fs|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	830							protein binding	p.L832L(2)|p.G830G(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GGACTACAAAGGCGGCCTGTTCTGCAGCGCGTTGCCG	0.618											OREG0022547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	102904469	GCGGCCTGTTCTGCAGC	-	102904453	7	5	99	1	0	1	0	1	0	0	0	0	15741	1203	42	0	2523	0	TECPR2	14	102904453	Frame_Shift_Del	DEL	GCGGCCTGTTCTGCAGC	TCGA-BR-8592-01A-11D-2394-08	82655589	102904453	4445087	25	66122											
CHTF18	63922	broad.mit.edu	37	chr16	839270	839270	+	Frame_Shift_Del	DEL	A	A	-													gctgaacttcagatcggaggAgatggaggagccgccccctc							TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr16:839270delA	uc002cke.3	+	3	410	c.347delA	c.(346-348)GAGfs	p.E116fs	RPUSD1_uc002cka.2_5'Flank|RPUSD1_uc002ckb.2_5'Flank|RPUSD1_uc002ckc.2_5'Flank|RPUSD1_uc002ckd.2_5'Flank|CHTF18_uc010uus.1_Frame_Shift_Del_p.E116fs|CHTF18_uc010bre.1_RNA|CHTF18_uc002ckf.3_Frame_Shift_Del_p.E144fs|CHTF18_uc010brf.2_5'UTR|CHTF18_uc002ckg.3_Intron	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	116					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)				AGATCGGAGGAGATGGAGGAG	0.667													-	839270	A	-	839270	7	5	99	1	0	1	0	1	0	0	0	0	3414	304	11	0	357	0	CHTF18	16	839270	Frame_Shift_Del	DEL	A	TCGA-BR-8592-01A-11D-2394-08		839270	89515483	26	66123											
CTCF	10664	broad.mit.edu	37	chr16	67650711	67650711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccagtggagaattggttcGgcatcgtcgttacaaacaca	11	9	0	1			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr16:67650711G>A	uc002etl.2	+	5	1306	c.1016G>A	c.(1015-1017)CGG>CAG	p.R339Q	CTCF_uc010cek.2_Missense_Mutation_p.R11Q	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	339	C2H2-type 3.		R -> W (in a Wilms' tumor).		chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GAATTGGTTCGGCATCGTCGT	0.483													A	67650711	G	A	67650711	3	1	99	1	0	0	0	0	1	0	0	0	4000	1116	39	1	1026	1	CTCF	16	67650711	Missense_Mutation	SNP	G	TCGA-BR-8592-01A-11D-2394-08	66811441	67650711	22704042	27	66124											
CDH1	999	broad.mit.edu	37	chr16	68842633	68842633	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagaaggcaaggttttctAcagcatcactggccaaggag	11	9	2	1			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr16:68842633A>G	uc002ewg.1	+	5	693	c.569A>G	c.(568-570)TAC>TGC	p.Y190C	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.Y190C	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	190	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AAGGTTTTCTACAGCATCACT	0.423			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				G	68842633	A	G	68842633	3	3	99	1	0	0	0	0	1	0	0	0	3095	391	14	3	587	3	CDH1	16	68842633	Missense_Mutation	SNP	A	TCGA-BR-8592-01A-11D-2394-08	1191922	68842633	21512120	28	66125											
MYH10	4628	broad.mit.edu	37	chr17	8424505	8424505	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagagattctttgtagagttGcccaacggtacgaaacatgc	11	8	1	2			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr17:8424505G>T	uc002gll.2	-	16	2059	c.1963C>A	c.(1963-1965)CAA>AAA	p.Q655K	MYH10_uc002glm.2_Missense_Mutation_p.Q686K|MYH10_uc010cnx.2_Missense_Mutation_p.Q664K	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	655	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						TTGTAGAGTTGCCCAACGGTA	0.473													T	8424505	G	T	8424505	3	4	99	1	0	0	0	0	1	0	0	0	10030	1328	46	5	4071	5	MYH10	17	8424505	Missense_Mutation	SNP	G	TCGA-BR-8592-01A-11D-2394-08		8424505	72770705	29	66126											
GPR179	440435	broad.mit.edu	37	chr17	36499035	36499035	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccatctgcctgcggccacTtggggctgccgaggctccct	12	16	1	0			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr17:36499035T>C	uc002hpz.2	-	1	659	c.638A>G	c.(637-639)AAG>AGG	p.K213R		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	213	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTGCGGCCACTTGGGGCTGCC	0.637													C	36499035	T	C	36499035	3	2	99	1	0	0	0	0	1	0	0	0	6674	1609	56	3	6509	3	GPR179	17	36499035	Missense_Mutation	SNP	T	TCGA-BR-8592-01A-11D-2394-08	28074530	36499035	44696175	30	66127											
ZNF536	9745	broad.mit.edu	37	chr19	30935607	30935607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgctgccagatctgcggcCggcgcttcaaggagccctgg	14	14	2	1			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr19:30935607C>T	uc002nsu.1	+	2	1276	c.1138C>T	c.(1138-1140)CGG>TGG	p.R380W	ZNF536_uc010edd.1_Missense_Mutation_p.R380W	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	380	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GATCTGCGGCCGGCGCTTCAA	0.597													T	30935607	C	T	30935607	3	4	99	1	0	0	0	0	1	0	0	0	17971	643	23	1	1140	1	ZNF536	19	30935607	Missense_Mutation	SNP	C	TCGA-BR-8592-01A-11D-2394-08		30935607	28193376	31	66128											
NLRP5	126206	broad.mit.edu	37	chr19	56565060	56565060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagtctgtcctgtgtgatctCgaggagcagacacctgaaga	13	9	2	4			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr19:56565060C>T	uc002qmj.2	+	13	3185	c.3185C>T	c.(3184-3186)TCG>TTG	p.S1062L	NLRP5_uc002qmi.2_Missense_Mutation_p.S1043L	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	1062						mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGTGTGATCTCGAGGAGCAGA	0.567													T	56565060	C	T	56565060	3	4	99	1	0	0	0	0	1	0	0	0	10480	893	31	1	3235	1	NLRP5	19	56565060	Missense_Mutation	SNP	C	TCGA-BR-8592-01A-11D-2394-08	25629453	56565060	2563923	32	66129											
XKR7	343702	broad.mit.edu	37	chr20	30585193	30585193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtactcctcacctgccaCgccccggttgcagtaccgga	11	16	1	0			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr20:30585193C>T	uc002wxe.2	+	3	1847	c.1673C>T	c.(1672-1674)ACG>ATG	p.T558M		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	558						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCACCTGCCACGCCCCGGTTG	0.582													T	30585193	C	T	30585193	3	4	99	1	0	0	0	0	1	0	0	0	17433	536	19	1	1683	1	XKR7	20	30585193	Missense_Mutation	SNP	C	TCGA-BR-8592-01A-11D-2394-08		30585193	32440327	33	66130											
SLC32A1	140679	broad.mit.edu	37	chr20	37356775	37356775	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagggcctcttcgcgctcgtCgcctacctcacctgggccga	11	17	2	0			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr20:37356775C>T	uc002xjc.2	+	2	1334	c.1071C>T	c.(1069-1071)GTC>GTT	p.V357V		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	357	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TCGCGCTCGTCGCCTACCTCA	0.627													T	37356775	C	T	37356775	2	4	99	1	0	0	0	0	0	0	0	1	14565	871	31	1		1	SLC32A1	20	37356775	Silent	SNP	C	TCGA-BR-8592-01A-11D-2394-08	6771582	37356775	25668745	34	66131											
MC3R	4159	broad.mit.edu	37	chr20	54824440	54824440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtggcgtggtgttcatcGtctactcggagagcaaaatg	13	8	3	1			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr20:54824440G>A	uc002xxb.2	+	1	653	c.541G>A	c.(541-543)GTC>ATC	p.V181I		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	218	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	p.V218I(1)		ovary(2)|breast(2)	4			Colorectal(105;0.202)			GGTGTTCATCGTCTACTCGGA	0.562													A	54824440	G	A	54824440	3	1	99	1	0	0	0	0	1	0	0	0	9365	1145	40	1	543	1	MC3R	20	54824440	Missense_Mutation	SNP	G	TCGA-BR-8592-01A-11D-2394-08	17467665	54824440	8201080	35	66132											
GRIK1	2897	broad.mit.edu	37	chr21	30949440	30949440	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatgaaatgatgattagggtGaaaaaccaccatatccctcc	8	9	0	4			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr21:30949440G>T	uc002yno.1	-	14	2438	c.1974C>A	c.(1972-1974)TTC>TTA	p.F658L	GRIK1_uc002ynn.2_Missense_Mutation_p.F643L|GRIK1_uc011acs.1_Missense_Mutation_p.F658L|GRIK1_uc011act.1_Missense_Mutation_p.F519L	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	658	Helical; (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TGATTAGGGTGAAAAACCACC	0.463													T	30949440	G	T	30949440	3	4	99	1	0	0	0	0	1	0	0	0	6773	1281	45	5	958	5	GRIK1	21	30949440	Missense_Mutation	SNP	G	TCGA-BR-8592-01A-11D-2394-08		30949440	17180455	36	66133											
REPS2	9185	broad.mit.edu	37	chrX	17153511	17153511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcggcaaccatgaaacCgcatccaacagtccaaaagt	7	13	1	1			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chrX:17153511C>T	uc004cxv.1	+	16	1961	c.1790C>T	c.(1789-1791)CCG>CTG	p.P597L	REPS2_uc004cxw.1_Missense_Mutation_p.P596L|REPS2_uc011miw.1_Missense_Mutation_p.P395L	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	597	Interaction with ASAP1 (By similarity).|Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			skin(2)|central_nervous_system(1)	3	Hepatocellular(33;0.183)					ACCATGAAACCGCATCCAACA	0.463													T	17153511	C	T	17153511	3	4	99	1	0	0	0	0	1	0	0	0	13229	652	23	1	1852	1	REPS2	23	17153511	Missense_Mutation	SNP	C	TCGA-BR-8592-01A-11D-2394-08		17153511	138117049	37	66134											
TSPAN7	7102	broad.mit.edu	37	chrX	38420808	38420808	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagctctgtagtatggcatcGaggagaatggagaccaaacc	13	8	1	2			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chrX:38420808G>A	uc004deg.3	+	1	78	c.9G>A	c.(7-9)TCG>TCA	p.S3S	TSPAN7_uc011mkj.1_5'UTR|TSPAN7_uc011mkk.1_Silent_p.S3S	NM_004615	NP_004606	P41732	TSN7_HUMAN	tetraspanin 7	3	Cytoplasmic (Potential).				interspecies interaction between organisms	integral to plasma membrane				ovary(1)	1						GTATGGCATCGAGGAGAATGG	0.428													A	38420808	G	A	38420808	2	1	99	1	0	0	0	0	0	0	0	1	16649	1045	37	1		1	TSPAN7	23	38420808	Silent	SNP	G	TCGA-BR-8592-01A-11D-2394-08	21267297	38420808	116849752	38	66135											
PAK3	5063	broad.mit.edu	37	chrX	110406248	110406248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagccaccaccagttatcGcaccaagaccagagcataca	7	14	0	3			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chrX:110406248G>A	uc004epa.2	+	6	646	c.619G>A	c.(619-621)GCA>ACA	p.A207T	PAK3_uc010npt.1_Missense_Mutation_p.A192T|PAK3_uc010npu.1_Missense_Mutation_p.A192T|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.A192T|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.A228T|PAK3_uc010npw.1_Missense_Mutation_p.A213T	NM_001128173	NP_001121645	O75914	PAK3_HUMAN	p21-activated kinase 3 isoform d	207	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			lung(6)|ovary(3)|large_intestine(1)	10						ACCAGTTATCGCACCAAGACC	0.333										TSP Lung(19;0.15)			A	110406248	G	A	110406248	3	1	99	1	0	0	0	0	1	0	0	0	11402	1087	38	1	708	1	PAK3	23	110406248	Missense_Mutation	SNP	G	TCGA-BR-8592-01A-11D-2394-08	71985440	110406248	44864312	39	66136											
ALG13	79868	broad.mit.edu	37	chrX	110952207	110952207	+	Frame_Shift_Del	DEL	G	G	-													ttttagttgttttgcagccaGgtccatcatttggaaatcag							TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chrX:110952207delG	uc011msy.1	+	5	799	c.765delG	c.(763-765)CAGfs	p.Q255fs	ALG13_uc011msw.1_Frame_Shift_Del_p.Q177fs|ALG13_uc011msx.1_Frame_Shift_Del_p.Q151fs|ALG13_uc011msz.1_Frame_Shift_Del_p.Q177fs|ALG13_uc011mta.1_Frame_Shift_Del_p.Q151fs|ALG13_uc011mtb.1_Frame_Shift_Del_p.Q151fs			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	255	OTU.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1						TTTGCAGCCAGGTCCATCATT	0.393													-	110952207	G	-	110952207	7	5	99	1	0	1	0	1	0	0	0	0	515	991	35	0	925	0	ALG13	23	110952207	Frame_Shift_Del	DEL	G	TCGA-BR-8592-01A-11D-2394-08	545959	110952207	44318353	40	66137											
NKAP	79576	broad.mit.edu	37	chrX	119077495	119077495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctgggcttcggactcttcGacgaactgcgacgtcttccc	11	14	2	0			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chrX:119077495G>A	uc004esh.2	-	1	241	c.74C>T	c.(73-75)TCG>TTG	p.S25L		NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	NFKB activating protein	25	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			ovary(2)	2						CGGACTCTTCGACGAACTGCG	0.701													A	119077495	G	A	119077495	3	1	99	1	0	0	0	0	1	0	0	0	10439	1059	37	1	1209	1	NKAP	23	119077495	Missense_Mutation	SNP	G	TCGA-BR-8592-01A-11D-2394-08	8125288	119077495	36193065	41	66138											
ODZ1	10178	broad.mit.edu	37	chrX	123525997	123525997	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccattttttcattccacgTtcctctttgaataaacgtca	3	11	3	1			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chrX:123525997T>C	uc004euj.2	-	27	5636	c.5572A>G	c.(5572-5574)ACG>GCG	p.T1858A	ODZ1_uc011muj.1_Missense_Mutation_p.T1864A|ODZ1_uc010nqy.2_Missense_Mutation_p.T1865A	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1858	Extracellular (Potential).|YD 6.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TCATTCCACGTTCCTCTTTGA	0.403													C	123525997	T	C	123525997	3	2	99	1	0	0	0	0	1	0	0	0	10834	1725	60	3	2625	3	ODZ1	23	123525997	Missense_Mutation	SNP	T	TCGA-BR-8592-01A-11D-2394-08	4448502	123525997	31744563	42	66139											
C1orf93	127281	broad.mit.edu	37	chr1	2520061	2520061	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagggctgctggtggtcagcAaaggtgggtcgagggagggg	23	5	1	0			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr1:2520061A>C	uc001aju.1	+	5	533	c.457A>C	c.(457-459)AAA>CAA	p.K153Q	C1orf93_uc001ajw.1_Missense_Mutation_p.K153Q|C1orf93_uc001ajv.1_Missense_Mutation_p.K171Q|C1orf93_uc010nzd.1_Silent_p.A159A|C1orf93_uc010nze.1_Intron|C1orf93_uc010nzf.1_Intron|C1orf93_uc001ajx.1_Missense_Mutation_p.Q36P	NM_152371	NP_689584	Q8TBF2	PGFS_HUMAN	hypothetical protein LOC127281	153					prostaglandin biosynthetic process	cytosol	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			central_nervous_system(1)	1	all_cancers(77;0.000167)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.97e-16)|all_lung(118;3.05e-07)|Lung NSC(185;2.8e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Lung SC(97;0.109)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Epithelial(90;4.76e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.19e-23)|GBM - Glioblastoma multiforme(42;1.13e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.00205)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		GGTGGTCAGCAAAGGTGGGTC	0.637													C	2520061	A	C	2520061	3	2	100	1	0	0	0	0	1	0	0	0	2070	131	5	5	475	5	C1orf93	1	2520061	Missense_Mutation	SNP	A	TCGA-BR-8676-01A-11D-2394-08		2520061	246730560	1	66140											
CHD5	26038	broad.mit.edu	37	chr1	6202574	6202574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccctgggcccaagagaagCgcagccagttgaggccctcc	13	15	0	2			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr1:6202574C>T	uc001amb.1	-	14	2235	c.2135G>A	c.(2134-2136)CGC>CAC	p.R712H	CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	712	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCAAGAGAAGCGCAGCCAGTT	0.612													T	6202574	C	T	6202574	3	4	100	1	0	0	0	0	1	0	0	0	3328	768	27	1	3841	1	CHD5	1	6202574	Missense_Mutation	SNP	C	TCGA-BR-8676-01A-11D-2394-08	3682513	6202574	243048047	2	66141											
CROCC	9696	broad.mit.edu	37	chr1	17250856	17250856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagatggcatcgctgctgtCgctgcaggaggagaaccagc	15	10	0	2	rs142411267	by1000genomes	TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr1:17250856C>T	uc001azt.2	+	3	302	c.233C>T	c.(232-234)TCG>TTG	p.S78L	CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Intron	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	78	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TCGCTGCTGTCGCTGCAGGAG	0.647													T	17250856	C	T	17250856	3	4	100	1	0	0	0	0	1	0	0	0	3893	893	31	1	243	1	CROCC	1	17250856	Missense_Mutation	SNP	C	TCGA-BR-8676-01A-11D-2394-08	11048282	17250856	231999765	3	66142											
ZBTB40	9923	broad.mit.edu	37	chr1	22828817	22828817	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagaggagggaaagaccttGtctgttctgttactagaaca	11	7	2	3			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr1:22828817G>T	uc001bft.2	+	6	1561	c.1050G>T	c.(1048-1050)TTG>TTT	p.L350F	ZBTB40_uc001bfu.2_Missense_Mutation_p.L350F|ZBTB40_uc009vqi.1_Intron|ZBTB40_uc001bfv.1_5'UTR	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	350					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GAAAGACCTTGTCTGTTCTGT	0.453													T	22828817	G	T	22828817	3	4	100	1	0	0	0	0	1	0	0	0	17539	1368	48	5	1064	5	ZBTB40	1	22828817	Missense_Mutation	SNP	G	TCGA-BR-8676-01A-11D-2394-08	5577961	22828817	226421804	4	66143											
ZSCAN20	7579	broad.mit.edu	37	chr1	33960894	33960894	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accagaggattcatacgggaGagaagccgtataagtgcaga	13	7	1	3			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr1:33960894G>A	uc001bxj.3	+	8	3117	c.2950G>A	c.(2950-2952)GAG>AAG	p.E984K	ZSCAN20_uc009vui.2_Missense_Mutation_p.E983K	NM_145238	NP_660281	P17040	ZSC20_HUMAN	zinc finger protein 31	984					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCATACGGGAGAGAAGCCGTA	0.473													A	33960894	G	A	33960894	3	1	100	1	0	0	0	0	1	0	0	0	18229	943	33	4	2976	4	ZSCAN20	1	33960894	Missense_Mutation	SNP	G	TCGA-BR-8676-01A-11D-2394-08	11132077	33960894	215289727	5	66144											
PDE4B	5142	broad.mit.edu	37	chr1	66821300	66821300	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatacatttcaaatactttcTtaggtaagatattaactggg	6	5	2	1			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr1:66821300T>C	uc001dcn.2	+	9	1029	c.838T>C	c.(838-840)TTA>CTA	p.L280L	PDE4B_uc009war.2_Silent_p.L188L|PDE4B_uc001dco.2_Silent_p.L280L|PDE4B_uc001dcp.2_Silent_p.L265L|PDE4B_uc001dcq.2_Silent_p.L108L|PDE4B_uc009was.2_Silent_p.L47L	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	280					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	AAATACTTTCTTAGGTAAGAT	0.388													C	66821300	T	C	66821300	2	2	100	1	0	0	0	0	0	0	0	1	11640	1606	56	3		3	PDE4B	1	66821300	Silent	SNP	T	TCGA-BR-8676-01A-11D-2394-08	32860406	66821300	182429321	6	66145											
MCOLN3	55283	broad.mit.edu	37	chr1	85510984	85510984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtttgctggttaaaattGcagcgattttcctcttcatg	9	7	2	0			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr1:85510984G>A	uc001dkp.2	-	2	153	c.60C>T	c.(58-60)TGC>TGT	p.C20C	MCOLN3_uc001dkq.2_Silent_p.C20C|MCOLN3_uc001dkr.2_Silent_p.C20C|MCOLN3_uc001dks.3_5'UTR	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	mucolipin 3	20						integral to membrane	ion channel activity			skin(1)	1				all cancers(265;0.00957)|Epithelial(280;0.0254)		GGTTAAAATTGCAGCGATTTT	0.403													A	85510984	G	A	85510984	2	1	100	1	0	0	0	0	0	0	0	1	9397	1311	46	2		2	MCOLN3	1	85510984	Silent	SNP	G	TCGA-BR-8676-01A-11D-2394-08	18689684	85510984	163739637	7	66146											
TCHH	7062	broad.mit.edu	37	chr1	152084187	152084187	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccttagttgctgctcgcgCctctcctgctgctcgcgcct	10	18	1	0			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr1:152084187C>T	uc001ezp.2	-	2	1506	c.1506G>A	c.(1504-1506)AGG>AGA	p.R502R	TCHH_uc009wne.1_Silent_p.R502R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	502	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCTCGCGCCTCTCCTGCT	0.522													T	152084187	C	T	152084187	2	4	100	1	0	0	0	0	0	0	0	1	15697	738	26	2		2	TCHH	1	152084187	Silent	SNP	C	TCGA-BR-8676-01A-11D-2394-08	66573203	152084187	97166434	8	66147											
CRABP2	1382	broad.mit.edu	37	chr1	156675185	156675185	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacccagcactttgagcaaTtcctcgaagttttccgatcg	7	12	0	1			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr1:156675185T>A	uc001fpr.2	-	1	191	c.54A>T	c.(52-54)GAA>GAT	p.E18D		NM_001878	NP_001869	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	18					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity			upper_aerodigestive_tract(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	CTTTGAGCAATTCCTCGAAGT	0.592													A	156675185	T	A	156675185	3	1	100	1	0	0	0	0	1	0	0	0	3844	1490	52	5	378	5	CRABP2	1	156675185	Missense_Mutation	SNP	T	TCGA-BR-8676-01A-11D-2394-08	4590998	156675185	92575436	9	66148											
SYT14	255928	broad.mit.edu	37	chr1	210329223	210329223	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagtgataaaaggcagccActtcaaaaatttggcagcaa	9	7	1	2			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr1:210329223A>C	uc009xcv.2	+	7	1394	c.1322A>C	c.(1321-1323)CAC>CCC	p.H441P	SYT14_uc001hhs.3_Missense_Mutation_p.H486P|SYT14_uc001hht.3_Missense_Mutation_p.H441P|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.H486P|SYT14_uc010pso.1_Missense_Mutation_p.H403P	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN	synaptotagmin XIV isoform 4	441	Cytoplasmic (Potential).|C2 2.					integral to membrane				ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAAGGCAGCCACTTCAAAAAT	0.388													C	210329223	A	C	210329223	3	2	100	1	0	0	0	0	1	0	0	0	15467	159	6	5	1487	5	SYT14	1	210329223	Missense_Mutation	SNP	A	TCGA-BR-8676-01A-11D-2394-08	53654038	210329223	38921398	10	66149											
KCNH1	3756	broad.mit.edu	37	chr1	211192300	211192300	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtagttcatgcggataAgtttggggtcagaaatcacc	12	7	4	1			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr1:211192300A>T	uc001hib.2	-	6	1027	c.857T>A	c.(856-858)CTT>CAT	p.L286H	KCNH1_uc001hic.2_Missense_Mutation_p.L286H	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	286	Cytoplasmic (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CATGCGGATAAGTTTGGGGTC	0.443													T	211192300	A	T	211192300	3	4	100	1	0	0	0	0	1	0	0	0	8031	72	3	5	2136	5	KCNH1	1	211192300	Missense_Mutation	SNP	A	TCGA-BR-8676-01A-11D-2394-08	863077	211192300	38058321	11	66150											
GJC2	57165	broad.mit.edu	37	chr1	228346653	228346653	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcccggacgggcagtgctacCtctgcgggcactgtcgggga	16	13	1	0			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr1:228346653C>G	uc001hsk.2	+	2	1369	c.1194C>G	c.(1192-1194)ACC>ACG	p.T398T		NM_020435	NP_065168	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	398	Cytoplasmic (Potential).				cell death	connexon complex|integral to membrane					0		Prostate(94;0.0405)				GCAGTGCTACCTCTGCGGGCA	0.776													G	228346653	C	G	228346653	2	3	100	1	0	0	0	0	0	0	0	1	6415	668	24	5		5	GJC2	1	228346653	Silent	SNP	C	TCGA-BR-8676-01A-11D-2394-08	17154353	228346653	20903968	12	66151											
SLC4A1AP	22950	broad.mit.edu	37	chr2	27887266	27887266	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccacgcagtgctgcagcacaGggcgtccggccctgacggag	15	15	0	1			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr2:27887266G>C	uc002rlk.3	+	1	929	c.647G>C	c.(646-648)AGG>ACG	p.R216T	SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger),	216	FHA.					cytoplasm|nucleus	double-stranded RNA binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)					CTGCAGCACAGGGCGTCCGGC	0.597													C	27887266	G	C	27887266	3	2	100	1	0	0	0	0	1	0	0	0	14653	1000	35	5	649	5	SLC4A1AP	2	27887266	Missense_Mutation	SNP	G	TCGA-BR-8676-01A-11D-2394-08		27887266	215312107	13	66152											
LRP1B	53353	broad.mit.edu	37	chr2	141272252	141272252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcactttcatctaacccatCcccacagtcatcttctccat	2	17	6	0			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr2:141272252C>T	uc002tvj.1	-	51	9211	c.8239G>A	c.(8239-8241)GAT>AAT	p.D2747N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2747	Extracellular (Potential).|LDL-receptor class A 16.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTAACCCATCCCCACAGTCA	0.363										TSP Lung(27;0.18)			T	141272252	C	T	141272252	3	4	100	1	0	0	0	0	1	0	0	0	8955	855	30	4	5724	4	LRP1B	2	141272252	Missense_Mutation	SNP	C	TCGA-BR-8676-01A-11D-2394-08	113384986	141272252	101927121	14	66153											
CPS1	1373	broad.mit.edu	37	chr2	211540487	211540487	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacatcagactggctcaaCgccaacaatgtccctgccac	7	17	2	1			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr2:211540487C>T	uc002vee.3	+	36	4329	c.4197C>T	c.(4195-4197)AAC>AAT	p.N1399N	CPS1_uc010fur.2_Silent_p.N1405N|CPS1_uc010fus.2_Silent_p.N948N	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	1399					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ACTGGCTCAACGCCAACAATG	0.438													T	211540487	C	T	211540487	2	4	100	1	0	0	0	0	0	0	0	1	3823	535	19	1		1	CPS1	2	211540487	Silent	SNP	C	TCGA-BR-8676-01A-11D-2394-08	70268235	211540487	31658886	15	66154											
TNS1	7145	broad.mit.edu	37	chr2	218712774	218712774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgctgggaggctgctcgCgggaactcagggagactggg	18	10	1	1	rs138064979	byFrequency	TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr2:218712774C>T	uc002vgt.2	-	17	2489	c.2091G>A	c.(2089-2091)CCG>CCA	p.P697P	TNS1_uc002vgr.2_Silent_p.P697P|TNS1_uc002vgs.2_Silent_p.P697P|TNS1_uc010zjv.1_Silent_p.P697P|TNS1_uc010fvj.1_Silent_p.P765P|TNS1_uc010fvk.1_Silent_p.P822P|TNS1_uc010fvi.1_Silent_p.P384P	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	697						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGGCTGCTCGCGGGAACTCAG	0.602													T	218712774	C	T	218712774	2	4	100	1	0	0	0	0	0	0	0	1	16340	755	27	1		1	TNS1	2	218712774	Silent	SNP	C	TCGA-BR-8676-01A-11D-2394-08	7172287	218712774	24486599	16	66155											
CDCP1	64866	broad.mit.edu	37	chr3	45152099	45152099	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggctgcttgtcctccAgcttgaacacctcggggttg	11	14	0	1			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr3:45152099A>G	uc003com.2	-	4	1025	c.890T>C	c.(889-891)CTG>CCG	p.L297P	CDCP1_uc003con.2_Missense_Mutation_p.L297P	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	297	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CTTGTCCTCCAGCTTGAACAC	0.572													G	45152099	A	G	45152099	3	3	100	1	0	0	0	0	1	0	0	0	3093	188	7	3	1652	3	CDCP1	3	45152099	Missense_Mutation	SNP	A	TCGA-BR-8676-01A-11D-2394-08		45152099	152870331	17	66156											
CELSR3	1951	broad.mit.edu	37	chr3	48696662	48696662	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccacaatcacatattcttGgcgagcctcatagtctaggt	7	12	4	0			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr3:48696662G>A	uc003cul.2	-	1	3687	c.3406C>T	c.(3406-3408)CAA>TAA	p.Q1136*	CELSR3_uc003cuf.1_Nonsense_Mutation_p.Q1206*	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1136	Extracellular (Potential).|Cadherin 8.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACATATTCTTGGCGAGCCTCA	0.537													A	48696662	G	A	48696662	4	1	100	1	0	0	0	0	0	1	0	0	3223	1357	47	4	6672	4	CELSR3	3	48696662	Nonsense_Mutation	SNP	G	TCGA-BR-8676-01A-11D-2394-08	3544563	48696662	149325768	18	66157											
ARHGAP31	57514	broad.mit.edu	37	chr3	119087339	119087339	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccaaccccctcctgacTtatgagctctatgagaaatt	6	14	1	3			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr3:119087339T>G	uc003ecj.3	+	3	856	c.324T>G	c.(322-324)ACT>ACG	p.T108T		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	108	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						CCCTCCTGACTTATGAGCTCT	0.483													G	119087339	T	G	119087339	2	3	100	1	0	0	0	0	0	0	0	1	880	1596	56	5		5	ARHGAP31	3	119087339	Silent	SNP	T	TCGA-BR-8676-01A-11D-2394-08	70390677	119087339	78935091	19	66158											
CP	1356	broad.mit.edu	37	chr3	148897410	148897410	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatcctctgttccagctccaGatctttctgggattttccat	6	12	3	1			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr3:148897410G>A	uc003ewy.3	-	15	2847	c.2594C>T	c.(2593-2595)TCT>TTT	p.S865F	CP_uc011bnr.1_RNA|CP_uc003eww.3_Missense_Mutation_p.S17F|CP_uc003ewx.3_Missense_Mutation_p.S646F|CP_uc003ewz.2_Missense_Mutation_p.S865F	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	865	Plastocyanin-like 5.|F5/8 type A 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TCCAGCTCCAGATCTTTCTGG	0.333													A	148897410	G	A	148897410	3	1	100	1	0	0	0	0	1	0	0	0	3787	942	33	4	623	4	CP	3	148897410	Missense_Mutation	SNP	G	TCGA-BR-8676-01A-11D-2394-08	29810071	148897410	49125020	20	66159			1	29		2	2	12	G		3.304558e-05
CP	1356	broad.mit.edu	37	chr3	148897421	148897421	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccagctccagatctttctggGattttccatacgtaagtgag	9	10	2	2			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr3:148897421G>C	uc003ewy.3	-	15	2836	c.2583C>G	c.(2581-2583)ATC>ATG	p.I861M	CP_uc011bnr.1_RNA|CP_uc003eww.3_Missense_Mutation_p.I13M|CP_uc003ewx.3_Missense_Mutation_p.I642M|CP_uc003ewz.2_Missense_Mutation_p.I861M	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	861	Plastocyanin-like 5.|F5/8 type A 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ATCTTTCTGGGATTTTCCATA	0.308													C	148897421	G	C	148897421	3	2	100	1	0	0	0	0	1	0	0	0	3787	1164	41	5	634	5	CP	3	148897421	Missense_Mutation	SNP	G	TCGA-BR-8676-01A-11D-2394-08	11	148897421	49125009	21	66160			1	29		2	2	12	G		3.304558e-05
IGSF10	285313	broad.mit.edu	37	chr3	151164364	151164364	+	Frame_Shift_Del	DEL	T	T	-													actgcaccagttggagtcacTtgggaaatttcagtcctgaa							TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr3:151164364delT	uc011bod.1	-	4	3405	c.3405delA	c.(3403-3405)CAAfs	p.Q1135fs		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1135					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGGAGTCACTTGGGAAATTT	0.418													-	151164364	T	-	151164364	7	5	100	1	0	1	0	1	0	0	0	0	7597	1606	56	0	4526	0	IGSF10	3	151164364	Frame_Shift_Del	DEL	T	TCGA-BR-8676-01A-11D-2394-08	2266943	151164364	46858066	22	66161											
GHSR	2693	broad.mit.edu	37	chr3	172165518	172165518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgagactgtagaggaccGtgagacagaagacaggaagg	16	6	0	5			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr3:172165518G>A	uc003fib.1	-	1	686	c.686C>T	c.(685-687)ACG>ATG	p.T229M	GHSR_uc011bpv.1_Missense_Mutation_p.T229M	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	229	Helical; Name=5; (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			lung(3)|ovary(1)|central_nervous_system(1)	5	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GTAGAGGACCGTGAGACAGAA	0.612													A	172165518	G	A	172165518	3	1	100	1	0	0	0	0	1	0	0	0	6375	1145	40	1	496	1	GHSR	3	172165518	Missense_Mutation	SNP	G	TCGA-BR-8676-01A-11D-2394-08	21001154	172165518	25856912	23	66162											
PIK3CA	5290	broad.mit.edu	37	chr3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggccagtacctcatggattaGaagatttgctgaaccctatt	9	9	1	3			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr3:178928079G>A	uc003fjk.2	+	8	1514	c.1357G>A	c.(1357-1359)GAA>AAA	p.E453K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(5)|p.E453Q(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)|p.E453del(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCATGGATTAGAAGATTTGCT	0.348		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178928079	G	A	178928079	3	1	100	1	0	0	0	0	1	0	0	0	11913	943	33	4	1383	4	PIK3CA	3	178928079	Missense_Mutation	SNP	G	TCGA-BR-8676-01A-11D-2394-08	6762561	178928079	19094351	24	66163											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	8	11	3	4	rs121913273		TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936082	G	A	178936082	3	1	100	1	0	0	0	0	1	0	0	0	11913	1291	45	4	1658	4	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-BR-8676-01A-11D-2394-08	8003	178936082	19086348	25	66164											
EVC	2121	broad.mit.edu	37	chr4	5798905	5798905	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggaacagcgtgcactggaGcaggggtcctcccagtgcct	15	13	0	0			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr4:5798905G>T	uc003gil.1	+	14	2227	c.2043G>T	c.(2041-2043)GAG>GAT	p.E681D	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	681					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				GTGCACTGGAGCAGGGGTCCT	0.677													T	5798905	G	T	5798905	3	4	100	1	0	0	0	0	1	0	0	0	5285	962	34	5	2097	5	EVC	4	5798905	Missense_Mutation	SNP	G	TCGA-BR-8676-01A-11D-2394-08		5798905	185355371	26	66165											
PDGFRA	5156	broad.mit.edu	37	chr4	55161419	55161419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatagactcttcagacctgGtggaagacagcttcctgtaa	10	10	2	3			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr4:55161419G>A	uc003han.3	+	23	3581	c.3250G>A	c.(3250-3252)GTG>ATG	p.V1084M	PDGFRA_uc003haa.2_Missense_Mutation_p.V844M	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	1084	Ser-rich.|Cytoplasmic (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTCAGACCTGGTGGAAGACAG	0.512			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			A	55161419	G	A	55161419	3	1	100	1	0	0	0	0	1	0	0	0	11661	1261	44	4	3336	4	PDGFRA	4	55161419	Missense_Mutation	SNP	G	TCGA-BR-8676-01A-11D-2394-08	49362514	55161419	135992857	27	66166											
PRDM5	11107	broad.mit.edu	37	chr4	121702362	121702362	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacatagctcacacctatacTtcttgtgtctttcatgaacc	4	12	4	1			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr4:121702362T>G	uc003idn.2	-	12	1629	c.1379A>C	c.(1378-1380)AAG>ACG	p.K460T	PRDM5_uc003ido.2_Missense_Mutation_p.K429T|PRDM5_uc010ine.2_Missense_Mutation_p.K429T	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	460					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2						ACACCTATACTTCTTGTGTCT	0.393													G	121702362	T	G	121702362	3	3	100	1	0	0	0	0	1	0	0	0	12460	1609	56	5	533	5	PRDM5	4	121702362	Missense_Mutation	SNP	T	TCGA-BR-8676-01A-11D-2394-08	66540943	121702362	69451914	28	66167											
FAT4	79633	broad.mit.edu	37	chr4	126389829	126389829	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgacaaccagacaggcgAccgggctgagtttttggccc	12	12	0	3			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr4:126389829A>G	uc003ifj.3	+	11	12062	c.12062A>G	c.(12061-12063)GAC>GGC	p.D4021G	FAT4_uc011cgp.1_Missense_Mutation_p.D2284G|FAT4_uc003ifi.1_Missense_Mutation_p.D1499G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4021	Laminin G-like 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CAGACAGGCGACCGGGCTGAG	0.403													G	126389829	A	G	126389829	3	3	100	1	0	0	0	0	1	0	0	0	5692	275	10	3	12104	3	FAT4	4	126389829	Missense_Mutation	SNP	A	TCGA-BR-8676-01A-11D-2394-08	4687467	126389829	64764447	29	66168											
PCDH10	57575	broad.mit.edu	37	chr4	134072673	134072673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcggatgtgaacgacaacGcgccgcgtttcagccagccg	13	13	1	1			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr4:134072673G>A	uc003iha.2	+	1	2204	c.1378G>A	c.(1378-1380)GCG>ACG	p.A460T	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.A460T	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	460	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GAACGACAACGCGCCGCGTTT	0.617													A	134072673	G	A	134072673	3	1	100	1	0	0	0	0	1	0	0	0	11507	1087	38	1	1380	1	PCDH10	4	134072673	Missense_Mutation	SNP	G	TCGA-BR-8676-01A-11D-2394-08	7682844	134072673	57081603	30	66169											
DCHS2	54798	broad.mit.edu	37	chr4	155254497	155254497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcaggctggggcgctgcCgagctgcgcctgcaccgtga	17	14	0	1			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr4:155254497C>T	uc003inw.2	-	9	1366	c.1366G>A	c.(1366-1368)GGC>AGC	p.G456S	DCHS2_uc003inx.2_Missense_Mutation_p.G955S	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	456	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGGGCGCTGCCGAGCTGCGCC	0.597													T	155254497	C	T	155254497	3	4	100	1	0	0	0	0	1	0	0	0	4288	652	23	1	7548	1	DCHS2	4	155254497	Missense_Mutation	SNP	C	TCGA-BR-8676-01A-11D-2394-08	21181824	155254497	35899779	31	66170											
FGA	2243	broad.mit.edu	37	chr4	155507816	155507816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaactccattctcatctgCggcatgtctgttaatgcctt	6	12	4	0			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr4:155507816C>T	uc003iod.1	-	5	823	c.765G>A	c.(763-765)CCG>CCA	p.P255P	FGA_uc003ioe.1_Silent_p.P255P|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	255	By similarity.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTCTCATCTGCGGCATGTCTG	0.493													T	155507816	C	T	155507816	2	4	100	1	0	0	0	0	0	0	0	1	5830	755	27	1		1	FGA	4	155507816	Silent	SNP	C	TCGA-BR-8676-01A-11D-2394-08	253319	155507816	35646460	32	66171											
MAP9	79884	broad.mit.edu	37	chr4	156294393	156294393	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agattcagagaaagattttaCaacaatgtcttcacacccat	5	9	3	3	rs145558165		TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr4:156294393C>A	uc003ios.2	-	4	640	c.376G>T	c.(376-378)GTA>TTA	p.V126L	MAP9_uc011cin.1_Missense_Mutation_p.V126L|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.V126L|MAP9_uc010iqb.1_Missense_Mutation_p.V54L	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	aster-associated protein	126					cell division|mitosis	cytoplasm|microtubule|spindle				ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		AAAGATTTTACAACAATGTCT	0.338													A	156294393	C	A	156294393	3	1	100	1	0	0	0	0	1	0	0	0	9270	478	17	5	1611	5	MAP9	4	156294393	Missense_Mutation	SNP	C	TCGA-BR-8676-01A-11D-2394-08	786577	156294393	34859883	33	66172											
IRX1	79192	broad.mit.edu	37	chr5	3599908	3599908	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagccccaggactcgcccttGggcctggcaaaggaggcccc	13	16	0	0			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr5:3599908G>T	uc003jde.2	+	2	898	c.846G>T	c.(844-846)TTG>TTT	p.L282F		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	282						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						ACTCGCCCTTGGGCCTGGCAA	0.746													T	3599908	G	T	3599908	3	4	100	1	0	0	0	0	1	0	0	0	7843	1339	47	5	852	5	IRX1	5	3599908	Missense_Mutation	SNP	G	TCGA-BR-8676-01A-11D-2394-08		3599908	177315352	34	66173											
SEMA5A	9037	broad.mit.edu	37	chr5	9380056	9380056	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctataacacaggttcccttCatggtgggcaaggggcctct	12	11	2	0			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr5:9380056C>T	uc003jek.2	-	3	715	c.3G>A	c.(1-3)ATG>ATA	p.M1I		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	1					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						AGGTTCCCTTCATGGTGGGCA	0.547													T	9380056	C	T	9380056	3	4	100	1	0	0	0	0	1	0	0	0	14037	826	29	4	3305	4	SEMA5A	5	9380056	Missense_Mutation	SNP	C	TCGA-BR-8676-01A-11D-2394-08	5780148	9380056	171535204	35	66174											
CDH18	1016	broad.mit.edu	37	chr5	19473796	19473796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagggctcttttttgctgcGcctcagggtgataaaaagta	11	8	2	1			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr5:19473796G>A	uc003jgc.2	-	12	2289	c.1912C>T	c.(1912-1914)CGC>TGC	p.R638C	CDH18_uc003jgd.2_Missense_Mutation_p.R638C|CDH18_uc011cnm.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	638	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTTTTGCTGCGCCTCAGGGTG	0.433													A	19473796	G	A	19473796	3	1	100	1	0	0	0	0	1	0	0	0	3103	1087	38	1	464	1	CDH18	5	19473796	Missense_Mutation	SNP	G	TCGA-BR-8676-01A-11D-2394-08	10093740	19473796	161441464	36	66175											
RXFP3	51289	broad.mit.edu	37	chr5	33936946	33936946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcccggaccttctggaggCggccaacacgagtggtaacg	15	12	1	0			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr5:33936946C>T	uc003jic.1	+	1	458	c.101C>T	c.(100-102)GCG>GTG	p.A34V		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	34	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						CTTCTGGAGGCGGCCAACACG	0.647													T	33936946	C	T	33936946	3	4	100	1	0	0	0	0	1	0	0	0	13761	768	27	1	103	1	RXFP3	5	33936946	Missense_Mutation	SNP	C	TCGA-BR-8676-01A-11D-2394-08	14463150	33936946	146978314	37	66176											
GABRA6	2559	broad.mit.edu	37	chr5	161128646	161128646	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccccaccactctcgccagCctttggaggcaccagtaaaa	7	17	1	0			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr5:161128646C>A	uc003lyu.2	+	9	1567	c.1229C>A	c.(1228-1230)GCC>GAC	p.A410D	GABRA6_uc003lyv.2_Missense_Mutation_p.A181D	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	410	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCTCGCCAGCCTTTGGAGGC	0.468										TCGA Ovarian(5;0.080)			A	161128646	C	A	161128646	3	1	100	1	0	0	0	0	1	0	0	0	6165	739	26	5	1263	5	GABRA6	5	161128646	Missense_Mutation	SNP	C	TCGA-BR-8676-01A-11D-2394-08	127191700	161128646	19786614	38	66177											
NSD1	64324	broad.mit.edu	37	chr5	176719013	176719013	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caagaagaagcaacagggaaAgcgcaggacccagggtgaaa	14	8	0	3			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr5:176719013A>T	uc003mfr.3	+	22	6455	c.6317A>T	c.(6316-6318)AAG>ATG	p.K2106M	NSD1_uc003mft.3_Missense_Mutation_p.K1837M|NSD1_uc011dfx.1_Missense_Mutation_p.K1754M	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2106					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAACAGGGAAAGCGCAGGACC	0.478			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			T	176719013	A	T	176719013	3	4	100	1	0	0	0	0	1	0	0	0	10669	72	3	5	6399	5	NSD1	5	176719013	Missense_Mutation	SNP	A	TCGA-BR-8676-01A-11D-2394-08	15590367	176719013	4196247	39	66178											
HNRNPAB	3182	broad.mit.edu	37	chr5	177637620	177637620	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagaataactacaagccatActgaggcggcagcaggagcg	12	10	1	2			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr5:177637620A>C	uc003miu.2	+	8	1252	c.995A>C	c.(994-996)TAC>TCC	p.Y332S	HNRNPAB_uc003miv.2_Missense_Mutation_p.Y285S|HNRNPAB_uc010jks.2_Missense_Mutation_p.Y283S|HNRNPAB_uc003miw.2_Missense_Mutation_p.Y332S|HNRNPAB_uc003mix.2_Missense_Mutation_p.Y285S|AGXT2L2_uc003miy.2_Intron|AGXT2L2_uc003mjc.2_Intron|AGXT2L2_uc003miz.2_Intron|AGXT2L2_uc003mja.2_Intron|AGXT2L2_uc003mjb.2_Intron	NM_031266	NP_112556	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B	332					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0						TACAAGCCATACTGAGGCGGC	0.428													C	177637620	A	C	177637620	3	2	100	1	0	0	0	0	1	0	0	0	7261	391	14	5	1021	5	HNRNPAB	5	177637620	Missense_Mutation	SNP	A	TCGA-BR-8676-01A-11D-2394-08	918607	177637620	3277640	40	66179											
GABBR1	2550	broad.mit.edu	37	chr6	29591798	29591798	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttggtggcttggcctggatCacactgaaagacaagaggag	14	8	1	3			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr6:29591798C>A	uc003nmt.3	-	7	997	c.661G>T	c.(661-663)GAT>TAT	p.D221Y	GABBR1_uc003nmp.3_Missense_Mutation_p.D104Y|GABBR1_uc003nms.3_Missense_Mutation_p.D104Y|GABBR1_uc003nmu.3_Missense_Mutation_p.D159Y|GABBR1_uc011dlr.1_Missense_Mutation_p.D44Y|GABBR1_uc011dls.1_Missense_Mutation_p.D221Y	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	221	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	TGGCCTGGATCACACTGAAAG	0.517													A	29591798	C	A	29591798	3	1	100	1	0	0	0	0	1	0	0	0	6155	826	29	5	2292	5	GABBR1	6	29591798	Missense_Mutation	SNP	C	TCGA-BR-8676-01A-11D-2394-08		29591798	141523269	41	66180											
ZNF107	51427	broad.mit.edu	37	chr7	64166935	64166936	+	Frame_Shift_Del	DEL	TT	TT	-													gtaataaatatgtgaaagtcTttgataaattttcaaattca							TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr7:64166934_64166935CTT>C	uc003ttd.3	+	6	1038_1039	c.252_253CTT>C	c.(250-255)gtctttfs	p.V84fs	ZNF107_uc003tte.3_Frame_Shift_Del_p.V84fs	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ATGTGAAAGTCTTTGATAAATT	0.337													-	64166936	TT	-	64166935	7	5	100	1	0	1	0	1	0	0	0	0	17712	1609	56	0	259	0	ZNF107	7	64166935	Frame_Shift_Del	DEL	TT	TCGA-BR-8676-01A-11D-2394-08		64166935	94971728	42	66181											
COL1A2	1278	broad.mit.edu	37	chr7	94056548	94056548	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagatggtcgcactggaCatcctggtacagttggacct	12	9	0	1			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr7:94056548C>A	uc003ung.1	+	48	3679	c.3208C>A	c.(3208-3210)CAT>AAT	p.H1070N	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1070					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCGCACTGGACATCCTGGTAC	0.542										HNSCC(75;0.22)			A	94056548	C	A	94056548	3	1	100	1	0	0	0	0	1	0	0	0	3678	478	17	5	3398	5	COL1A2	7	94056548	Missense_Mutation	SNP	C	TCGA-BR-8676-01A-11D-2394-08	29889613	94056548	65082115	43	66182											
SPAM1	6677	broad.mit.edu	37	chr7	123594445	123594445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcagtctcctgtagctgCtacactctatgtgcgcaatc	8	13	3	0			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr7:123594445C>T	uc003vld.2	+	4	1223	c.821C>T	c.(820-822)GCT>GTT	p.A274V	SPAM1_uc003vle.2_Missense_Mutation_p.A274V|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.A274V|SPAM1_uc010lku.2_Missense_Mutation_p.A274V	NM_153189	NP_694859	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 2	274					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)	CCTGTAGCTGCTACACTCTAT	0.423													T	123594445	C	T	123594445	3	4	100	1	0	0	0	0	1	0	0	0	14986	797	28	2	823	2	SPAM1	7	123594445	Missense_Mutation	SNP	C	TCGA-BR-8676-01A-11D-2394-08	29537897	123594445	35544218	44	66183											
SSPO	23145	broad.mit.edu	37	chr7	149489292	149489292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattggccctgcggcagccCgggtaagggggctctgggcc	18	12	1	1			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr7:149489292C>T	uc010lpk.2	+	37	5537	c.5537C>T	c.(5536-5538)CCG>CTG	p.P1846L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1846	EGF-like 1.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCGGCAGCCCGGGTAAGGGG	0.667													T	149489292	C	T	149489292	3	4	100	1	0	0	0	0	1	0	0	0	15188	652	23	1	5675	1	SSPO	7	149489292	Missense_Mutation	SNP	C	TCGA-BR-8676-01A-11D-2394-08	25894847	149489292	9649371	45	66184											
MLL3	58508	broad.mit.edu	37	chr7	151878863	151878863	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggtgtcaacaagggtcGtgcatatgagtcaggtatcc	13	8	2	1			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr7:151878863G>A	uc003wla.2	-	36	6301	c.6082C>T	c.(6082-6084)CGA>TGA	p.R2028*	MLL3_uc003wkz.2_Nonsense_Mutation_p.R1089*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2028	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AACAAGGGTCGTGCATATGAG	0.473			N		medulloblastoma								A	151878863	G	A	151878863	4	1	100	1	0	0	0	0	0	1	0	0	9622	1153	40	1	8749	1	MLL3	7	151878863	Nonsense_Mutation	SNP	G	TCGA-BR-8676-01A-11D-2394-08	2389571	151878863	7259800	46	66185											
MLL3	58508	broad.mit.edu	37	chr7	151970925	151970925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacagcatttgatagtggCtccaaggtgcttacaaaatg	9	8	1	1			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr7:151970925C>T	uc003wla.2	-	7	1096	c.877G>A	c.(877-879)GCC>ACC	p.A293T		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	293					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTGATAGTGGCTCCAAGGTGC	0.418			N		medulloblastoma								T	151970925	C	T	151970925	3	4	100	1	0	0	0	0	1	0	0	0	9622	797	28	2	14070	2	MLL3	7	151970925	Missense_Mutation	SNP	C	TCGA-BR-8676-01A-11D-2394-08	92062	151970925	7167738	47	66186											
PRKDC	5591	broad.mit.edu	37	chr8	48743232	48743232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgtcaggaaggtctccGtgccggtagcttctgtacag	13	9	3	1			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr8:48743232G>A	uc003xqi.2	-	62	8388	c.8331C>T	c.(8329-8331)CAC>CAT	p.H2777H	PRKDC_uc003xqj.2_Silent_p.H2777H|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2777	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GAAGGTCTCCGTGCCGGTAGC	0.502								NHEJ					A	48743232	G	A	48743232	2	1	100	1	0	0	0	0	0	0	0	1	12521	1136	40	1		1	PRKDC	8	48743232	Silent	SNP	G	TCGA-BR-8676-01A-11D-2394-08		48743232	97620790	48	66187											
DPYS	1807	broad.mit.edu	37	chr8	105405182	105405182	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgccctcgaaaatgttgaAgttaacagcctgatgatgag	10	8	0	4			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr8:105405182A>C	uc003yly.3	-	8	1402	c.1273T>G	c.(1273-1275)TTC>GTC	p.F425V	DPYS_uc010mcf.1_5'UTR	NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	425					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAAATGTTGAAGTTAACAGCC	0.423													C	105405182	A	C	105405182	3	2	100	1	0	0	0	0	1	0	0	0	4746	72	3	5	294	5	DPYS	8	105405182	Missense_Mutation	SNP	A	TCGA-BR-8676-01A-11D-2394-08	56661950	105405182	40958840	49	66188											
ZFP41	286128	broad.mit.edu	37	chr8	144332286	144332286	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccctatgagtgcagtgaGtgtgggcggatctttaagca	13	7	1	2			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr8:144332286G>A	uc003yxw.2	+	2	631	c.273G>A	c.(271-273)GAG>GAA	p.E91E	ZFP41_uc003yxv.2_RNA	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	zinc finger protein 41 homolog	91	C2H2-type 1.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AGTGCAGTGAGTGTGGGCGGA	0.517													A	144332286	G	A	144332286	2	1	100	1	0	0	0	0	0	0	0	1	17646	1020	36	4		4	ZFP41	8	144332286	Silent	SNP	G	TCGA-BR-8676-01A-11D-2394-08	38927104	144332286	2031736	50	66189											
FRMD3	257019	broad.mit.edu	37	chr9	86004624	86004624	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aactgccctttggtttccctCtgcaaaggaagcacatttaa	7	11	1	0			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr9:86004624C>G	uc004ams.1	-	2	350	c.148_splice	c.e2-1	p.R50_splice	FRMD3_uc004amr.1_Splice_Site_p.R36_splice	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3							cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2						TGGTTTCCCTCTGCAAAGGAA	0.488													G	86004624	C	G	86004624	5	3	100	1	0	0	0	0	0	0	1	0	6050	927	32	5	1698	5	FRMD3	9	86004624	Splice_Site	SNP	C	TCGA-BR-8676-01A-11D-2394-08		86004624	55208807	51	66190											
KIAA1984	84960	broad.mit.edu	37	chr9	139699029	139699029	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accggctcaaccagcagaagAagctgatcgacaagatccac	9	13	1	4			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr9:139699029A>C	uc004cjf.2	+	7	790	c.742A>C	c.(742-744)AAG>CAG	p.K248Q	LOC100131193_uc004cjg.1_RNA	NM_001039374	NP_001034463	Q5T5S1	K1984_HUMAN	hypothetical protein LOC84960	248										ovary(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCAGCAGAAGAAGCTGATCGA	0.637													C	139699029	A	C	139699029	3	2	100	1	0	0	0	0	1	0	0	0	8266	247	9	5	768	5	KIAA1984	9	139699029	Missense_Mutation	SNP	A	TCGA-BR-8676-01A-11D-2394-08	53694405	139699029	1514402	52	66191											
KIAA1217	56243	broad.mit.edu	37	chr10	24832059	24832059	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaacaaagggtctaaaatctCaggcctgcaatactctatac	6	10	3	0			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr10:24832059C>A	uc001iru.3	+	19	4263	c.3860C>A	c.(3859-3861)TCA>TAA	p.S1287*	KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Nonsense_Mutation_p.S970*|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Nonsense_Mutation_p.S123*	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1287					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						TCTAAAATCTCAGGCCTGCAA	0.428													A	24832059	C	A	24832059	4	1	100	1	0	0	0	0	0	1	0	0	8216	838	29	5	3934	5	KIAA1217	10	24832059	Nonsense_Mutation	SNP	C	TCGA-BR-8676-01A-11D-2394-08		24832059	110702688	53	66192											
ARHGAP21	57584	broad.mit.edu	37	chr10	24880828	24880828	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaacttacgtgctggatgagCgtttctacaatcttgtactg	10	8	2	1			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr10:24880828C>A	uc001isb.2	-	22	4477	c.3990G>T	c.(3988-3990)ACG>ACT	p.T1330T	ARHGAP21_uc010qdb.1_RNA	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1329	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						GCTGGATGAGCGTTTCTACAA	0.458													A	24880828	C	A	24880828	2	1	100	1	0	0	0	0	0	0	0	1	871	755	27	5		5	ARHGAP21	10	24880828	Silent	SNP	C	TCGA-BR-8676-01A-11D-2394-08	48769	24880828	110653919	54	66193											
FRMPD2	143162	broad.mit.edu	37	chr10	49482599	49482599	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaatacctgcgtccttcgtTaaaggctgcatccaaaagtc	9	11	0	0			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr10:49482599T>C	uc001jgi.2	-	1	119	c.12A>G	c.(10-12)TTA>TTG	p.L4L	FRMPD2_uc001jgj.2_Silent_p.L4L	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	4					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		CGTCCTTCGTTAAAGGCTGCA	0.493													C	49482599	T	C	49482599	2	2	100	1	0	0	0	0	0	0	0	1	6058	1751	61	3		3	FRMPD2	10	49482599	Silent	SNP	T	TCGA-BR-8676-01A-11D-2394-08	24601771	49482599	86052148	55	66194											
COL17A1	1308	broad.mit.edu	37	chr10	105794506	105794506	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaggtcctggagggcctggGatgaatgacaagccggcagc	18	9	0	2			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr10:105794506G>A	uc001kxr.2	-	51	3808	c.3639C>T	c.(3637-3639)ATC>ATT	p.I1213I	COL17A1_uc001kxq.2_5'Flank	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	1213	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAGGGCCTGGGATGAATGACA	0.637													A	105794506	G	A	105794506	2	1	100	1	0	0	0	0	0	0	0	1	3674	1164	41	4		4	COL17A1	10	105794506	Silent	SNP	G	TCGA-BR-8676-01A-11D-2394-08	56311907	105794506	29740241	56	66195											
TUT1	64852	broad.mit.edu	37	chr11	62342958	62342958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagaccattcttgggctgCctcatgtcccttgggccccc	10	16	2	1			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr11:62342958C>T	uc001nto.2	-	9	2385	c.2347G>A	c.(2347-2349)GCA>ACA	p.A783T	EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank|EEF1G_uc001ntn.1_5'Flank|TUT1_uc001ntp.1_Missense_Mutation_p.A279T	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	745					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2						TCTTGGGCTGCCTCATGTCCC	0.682													T	62342958	C	T	62342958	3	4	100	1	0	0	0	0	1	0	0	0	16777	739	26	2	395	2	TUT1	11	62342958	Missense_Mutation	SNP	C	TCGA-BR-8676-01A-11D-2394-08		62342958	72663558	57	66196											
FAT3	120114	broad.mit.edu	37	chr11	92088531	92088531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagtactccatcagggatGgcagtggtcttggaaggttc	13	9	2	0			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr11:92088531G>A	uc001pdj.3	+	1	3270	c.3253G>A	c.(3253-3255)GGC>AGC	p.G1085S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1085	Cadherin 10.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATCAGGGATGGCAGTGGTCT	0.468										TCGA Ovarian(4;0.039)			A	92088531	G	A	92088531	3	1	100	1	0	0	0	0	1	0	0	0	5691	1348	47	4	3255	4	FAT3	11	92088531	Missense_Mutation	SNP	G	TCGA-BR-8676-01A-11D-2394-08	29745573	92088531	42917985	58	66197											
ADAMTS8	11095	broad.mit.edu	37	chr11	130289118	130289118	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttttaccaccatcaggtTgatggaattcttgatgctgg	9	9	2	2			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr11:130289118T>C	uc001qgg.3	-	2	1148	c.790A>G	c.(790-792)AAC>GAC	p.N264D		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	264	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ACCATCAGGTTGATGGAATTC	0.512													C	130289118	T	C	130289118	3	2	100	1	0	0	0	0	1	0	0	0	272	1812	63	3	1911	3	ADAMTS8	11	130289118	Missense_Mutation	SNP	T	TCGA-BR-8676-01A-11D-2394-08	38200587	130289118	4717398	59	66198											
CLECL1	160365	broad.mit.edu	37	chr12	9885708	9885709	+	Frame_Shift_Ins	INS	-	-	TAAGT													tctgcaaagaaacttctgatINSaagtaaattgagatggcaaa					rs112979434	by1000genomes	TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr12:9885707_9885708A>ATAAGT	uc001qwi.3	-	0	188_189	c.153_154T>ACTTAT	c.(151-156)ttatcafs	p.L51fs	CLECL1_uc001qwj.3_Frame_Shift_Ins_p.L51fs	NM_001253750	NP_001240679	Q8IZS7	CLCL1_HUMAN	Homo sapiens C-type lectin-like 1 (CLECL1), transcript variant 3, mRNA.	51						integral to membrane|plasma membrane	sugar binding	p.S52fs*26(2)		breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						GAAACTTCTGATAAGTAAATTG	0.401													TAAGT	9885709	-	TAAGT	9885708	7	5	100	1	0	1	1	0	0	0	0	0	3523	1403	49	0	358	0	CLECL1	12	9885708	Frame_Shift_Ins	INS	-	TCGA-BR-8676-01A-11D-2394-08		9885708	123966187	60	66199											
OVCH1	341350	broad.mit.edu	37	chr12	29614836	29614836	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagccagcacagatcatcTtctctgtgatccctcctgga	7	14	3	2			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr12:29614836T>G	uc001rix.1	-	19	2231	c.2231A>C	c.(2230-2232)AAG>ACG	p.K744T		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	744	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACAGATCATCTTCTCTGTGAT	0.473													G	29614836	T	G	29614836	3	3	100	1	0	0	0	0	1	0	0	0	11323	1609	56	5	1213	5	OVCH1	12	29614836	Missense_Mutation	SNP	T	TCGA-BR-8676-01A-11D-2394-08	19729128	29614836	104237059	61	66200											
MLL2	8085	broad.mit.edu	37	chr12	49431910	49431911	+	Frame_Shift_Ins	INS	-	-	A													tcccgttcagccttctcattINSagccgattctaccagcctca							TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr12:49431910_49431911insA	uc001rta.3	-	34	9228_9229	c.9228_9229insT	c.(9226-9231)GCTAATfs	p.A3076fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	3076_3077					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GCCTTCTCATTAGCCGATTCTA	0.599			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49431911	-	A	49431910	7	5	100	1	0	1	1	0	0	0	0	0	9621	1754	61	0	7468	0	MLL2	12	49431910	Frame_Shift_Ins	INS	-	TCGA-BR-8676-01A-11D-2394-08	19817074	49431910	84419985	62	66201	310	2									
MLL2	8085	broad.mit.edu	37	chr12	49431911	49431912	+	Frame_Shift_Ins	INS	-	-	A													cccgttcagccttctcattaINSgccgattctaccagcctcag							TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr12:49431910_49431911T>TA	uc001rta.4	-	33	9228_9229	c.9228_9229A>TA	c.(9226-9231)gctaatfs	p.A3076fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	3076					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCCTTCTCATTAGCCGATTCTA	0.599			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			A	49431912	-	A	49431911	7	5	100	1	0	1	1	0	0	0	0	0	9621	407	15	0	7469	0	MLL2	12	49431911	Frame_Shift_Ins	INS	-	TCGA-BR-8676-01A-11D-2394-08	1	49431911	84419984	63	66202	310	2									
OR11H6	122748	broad.mit.edu	37	chr14	20692369	20692369	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctggtctgtgtatgctgGgtaggcggatttctctgcta	13	7	3	0			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr14:20692369G>A	uc010tlc.1	+	1	501	c.501G>A	c.(499-501)TGG>TGA	p.W167*		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H,	167	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GTGTATGCTGGGTAGGCGGAT	0.498													A	20692369	G	A	20692369	4	1	100	1	0	0	0	0	0	1	0	0	10929	1241	43	4	503	4	OR11H6	14	20692369	Nonsense_Mutation	SNP	G	TCGA-BR-8676-01A-11D-2394-08		20692369	86657171	64	66203											
TMEM229B	161145	broad.mit.edu	37	chr14	67940343	67940343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtagtcccaggggcaggCgttgaactggcgcaggatga	18	8	0	2			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr14:67940343C>T	uc001xjk.2	-	3	708	c.298G>A	c.(298-300)GCC>ACC	p.A100T	TMEM229B_uc001xjj.1_RNA	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	100	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1						CAGGGGCAGGCGTTGAACTGG	0.642													T	67940343	C	T	67940343	3	4	100	1	0	0	0	0	1	0	0	0	16145	768	27	1	209	1	TMEM229B	14	67940343	Missense_Mutation	SNP	C	TCGA-BR-8676-01A-11D-2394-08	47247974	67940343	39409197	65	66204											
DIO2	1734	broad.mit.edu	37	chr14	80677629	80677629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggaagctcttccagaCgcagcgcagtccctctgagg	14	12	2	2			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr14:80677629C>T	uc010tvq.1	-	2	589	c.187G>A	c.(187-189)GTC>ATC	p.V63I	uc001xuw.1_5'Flank|DIO2_uc010tvp.1_Missense_Mutation_p.V63I|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_Missense_Mutation_p.V63I|DIO2_uc010tvr.1_Missense_Mutation_p.V63I|DIO2_uc010asy.2_Missense_Mutation_p.V63I	NM_000793	NP_000784	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II isoform a	63					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CTCTTCCAGACGCAGCGCAGT	0.612													T	80677629	C	T	80677629	3	4	100	1	0	0	0	0	1	0	0	0	4525	536	19	1	754	1	DIO2	14	80677629	Missense_Mutation	SNP	C	TCGA-BR-8676-01A-11D-2394-08	12737286	80677629	26671911	66	66205											
ANKFY1	51479	broad.mit.edu	37	chr17	4086813	4086832	+	Frame_Shift_Del	DEL	GAGCCCAGCAGCTGGGCTGC	GAGCCCAGCAGCTGGGCTGC	-													tgtcattgatggcggctccaGagcccagcagctgggctgcg							TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr17:4086812_4086831AGAGCCCAGCAGCTGGGCTGC>A	uc002fxn.3	-	13	2057_2076	c.1940_1959GCAGCCCAGCTGCTGGGCTCT>T	c.(1939-1959)gcagcccagctgctgggctctfs	p.A647fs	ANKFY1_uc002fxo.3_Frame_Shift_Del_p.A605fs|ANKFY1_uc002fxp.3_Frame_Shift_Del_p.A604fs|ANKFY1_uc010ckp.3_Frame_Shift_Del_p.A546fs|ANKFY1_uc002fxq.1_Frame_Shift_Del_p.A605fs	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	Homo sapiens ankyrin repeat and FYVE domain containing 1 (ANKFY1), transcript variant 1, mRNA.	605						endosome membrane	metal ion binding|protein binding	p.V650V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TGGCGGCTCCAGAGCCCAGCAGCTGGGCTGCGATCGTGTG	0.591													-	4086832	GAGCCCAGCAGCTGGGCTGC	-	4086813	7	5	100	1	0	1	0	1	0	0	0	0	626	942	33	0	1728	0	ANKFY1	17	4086813	Frame_Shift_Del	DEL	GAGCCCAGCAGCTGGGCTGC	TCGA-BR-8676-01A-11D-2394-08		4086813	77108397	67	66206											
STX8	9482	broad.mit.edu	37	chr17	9471725	9471725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttttctttcatattgatttCgttgttgaattttctcagca	5	7	3	2	rs140592918		TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr17:9471725C>T	uc002glx.2	-	2	230	c.80G>A	c.(79-81)CGA>CAA	p.R27Q		NM_004853	NP_004844	Q9UNK0	STX8_HUMAN	syntaxin 8	27	Cytoplasmic (Potential).				transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)	1						ATATTGATTTCGTTGTTGAAT	0.368													T	9471725	C	T	9471725	3	4	100	1	0	0	0	0	1	0	0	0	15350	884	31	1	658	1	STX8	17	9471725	Missense_Mutation	SNP	C	TCGA-BR-8676-01A-11D-2394-08	5384912	9471725	71723485	68	66207											
TRIM16L	147166	broad.mit.edu	37	chr17	18638508	18638508	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggaacgggaaggagttcaCggcctggtacagtgacatgg	16	7	1	1			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr17:18638508C>A	uc002gug.1	+	10	1469	c.782C>A	c.(781-783)ACG>AAG	p.T261K	TRIM16L_uc010vyf.1_Missense_Mutation_p.T315K|TRIM16L_uc002guh.1_Missense_Mutation_p.T261K|TRIM16L_uc010cqg.1_Missense_Mutation_p.T363K|TRIM16L_uc002gui.1_Missense_Mutation_p.T261K|TRIM16L_uc010vyg.1_Missense_Mutation_p.T261K|TRIM16L_uc010vyh.1_3'UTR	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN	tripartite motif-containing 16-like	261	B30.2/SPRY.					cytoplasm					0						AAGGAGTTCACGGCCTGGTAC	0.557													A	18638508	C	A	18638508	3	1	100	1	0	0	0	0	1	0	0	0	16489	536	19	5	796	5	TRIM16L	17	18638508	Missense_Mutation	SNP	C	TCGA-BR-8676-01A-11D-2394-08	9166783	18638508	62556702	69	66208											
ALDH3A1	218	broad.mit.edu	37	chr17	19643782	19643782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatttcttagcatcttccccGtagaactcctgtggagaaga	9	10	2	3			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr17:19643782G>A	uc010cqu.2	-	6	1146	c.816C>T	c.(814-816)TAC>TAT	p.Y272Y	ALDH3A1_uc010vzd.1_Silent_p.Y272Y|ALDH3A1_uc002gwj.2_Silent_p.Y272Y|ALDH3A1_uc010cqv.2_Silent_p.Y271Y|ALDH3A1_uc002gwk.2_Silent_p.Y389Y|ALDH3A1_uc002gwl.1_Silent_p.Y199Y	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3A1	272					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(1)|pancreas(1)	2	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CATCTTCCCCGTAGAACTCCT	0.527													A	19643782	G	A	19643782	2	1	100	1	0	0	0	0	0	0	0	1	497	1140	40	1		1	ALDH3A1	17	19643782	Silent	SNP	G	TCGA-BR-8676-01A-11D-2394-08	1005274	19643782	61551428	70	66209											
CORO6	84940	broad.mit.edu	37	chr17	27943176	27943176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtatccgggtacagatcGtcctggaagaggtctgactg	15	9	1	3			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr17:27943176G>A	uc002hel.2	-	9	1082	c.1080C>T	c.(1078-1080)GAC>GAT	p.D360D	CORO6_uc002hem.2_Silent_p.D126D|CORO6_uc002hen.2_Silent_p.D126D	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	360					actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0						GGTACAGATCGTCCTGGAAGA	0.667													A	27943176	G	A	27943176	2	1	100	1	0	0	0	0	0	0	0	1	3758	1136	40	1		1	CORO6	17	27943176	Silent	SNP	G	TCGA-BR-8676-01A-11D-2394-08	8299394	27943176	53252034	71	66210											
ATAD5	79915	broad.mit.edu	37	chr17	29219667	29219667	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actagtttgctctgaacatgGccttgataacaaaatttacc	6	9	1	2	rs147538471	byFrequency	TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr17:29219667G>C	uc002hfs.1	+	20	4647	c.4301G>C	c.(4300-4302)GGC>GCC	p.G1434A		NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1434					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCTGAACATGGCCTTGATAAC	0.333													C	29219667	G	C	29219667	3	2	100	1	0	0	0	0	1	0	0	0	1076	1203	42	5	4379	5	ATAD5	17	29219667	Missense_Mutation	SNP	G	TCGA-BR-8676-01A-11D-2394-08	1276491	29219667	51975543	72	66211											
KRT28	162605	broad.mit.edu	37	chr17	38954584	38954584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgtcagctcgtccaggactCgccgtaatccgttgatgtcg	12	13	1	1			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr17:38954584C>T	uc002hvh.1	-	3	659	c.593G>A	c.(592-594)CGA>CAA	p.R198Q		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	198	Rod.|Coil 1B.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				GTCCAGGACTCGCCGTAATCC	0.493													T	38954584	C	T	38954584	3	4	100	1	0	0	0	0	1	0	0	0	8465	884	31	1	825	1	KRT28	17	38954584	Missense_Mutation	SNP	C	TCGA-BR-8676-01A-11D-2394-08	9734917	38954584	42240626	73	66212											
EZH1	2145	broad.mit.edu	37	chr17	40870044	40870044	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctggttcaatcttgatttCtttattcttgcgtttatata	5	6	5	1			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr17:40870044C>T	uc002iaz.2	-	10	1118	c.973G>A	c.(973-975)GAA>AAA	p.E325K	EZH1_uc002iba.2_Missense_Mutation_p.E316K|EZH1_uc010wgt.1_Missense_Mutation_p.E255K|EZH1_uc010wgu.1_Missense_Mutation_p.E331K|EZH1_uc010wgv.1_Missense_Mutation_p.E285K|EZH1_uc010wgw.1_Missense_Mutation_p.E186K|EZH1_uc010cyp.2_Missense_Mutation_p.E226K|EZH1_uc010cyq.2_Missense_Mutation_p.E242K|EZH1_uc010cys.2_Missense_Mutation_p.E276K|EZH1_uc010cyo.1_Intron|EZH1_uc010cyr.1_5'UTR	NM_001991	NP_001982	Q92800	EZH1_HUMAN	enhancer of zeste homolog 1	325					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			ovary(3)	3		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		ATCTTGATTTCTTTATTCTTG	0.403													T	40870044	C	T	40870044	3	4	100	1	0	0	0	0	1	0	0	0	5333	922	32	4	1318	4	EZH1	17	40870044	Missense_Mutation	SNP	C	TCGA-BR-8676-01A-11D-2394-08	1915460	40870044	40325166	74	66213											
KIF19	124602	broad.mit.edu	37	chr17	72346598	72346598	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcatgggacagcttcgggaGcagctcgccagcgccttcca	14	14	0	0			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr17:72346598G>T	uc002jkm.3	+	11	1410	c.1272G>T	c.(1270-1272)GAG>GAT	p.E424D	KIF19_uc002jkj.2_Missense_Mutation_p.E424D|KIF19_uc002jkk.2_Missense_Mutation_p.E382D|KIF19_uc002jkl.2_Missense_Mutation_p.E382D	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	424	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						AGCTTCGGGAGCAGCTCGCCA	0.662													T	72346598	G	T	72346598	3	4	100	1	0	0	0	0	1	0	0	0	8282	962	34	5	1314	5	KIF19	17	72346598	Missense_Mutation	SNP	G	TCGA-BR-8676-01A-11D-2394-08	31476554	72346598	8848612	75	66214											
ENGASE	64772	broad.mit.edu	37	chr17	77082045	77082045	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgccagcctgctggcccctCtgccccaggtgcaggccgtc	12	19	1	0			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr17:77082045C>T	uc002jwv.2	+	14	1854	c.1846C>T	c.(1846-1848)CTG>TTG	p.L616L	ENGASE_uc002jww.2_Silent_p.L321L	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	616						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			skin(1)	1						GCTGGCCCCTCTGCCCCAGGT	0.706													T	77082045	C	T	77082045	2	4	100	1	0	0	0	0	0	0	0	1	5118	912	32	4		4	ENGASE	17	77082045	Silent	SNP	C	TCGA-BR-8676-01A-11D-2394-08	4735447	77082045	4113165	76	66215											
KATNAL2	83473	broad.mit.edu	37	chr18	44627365	44627365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagactggcaaagagagttcGagtctgtctgaaaccacatt	10	9	2	3			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr18:44627365G>A	uc002lco.2	+	15	1584	c.1390G>A	c.(1390-1392)GAG>AAG	p.E464K	KATNAL2_uc002lcp.3_Missense_Mutation_p.E391K	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	536						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						AAGAGAGTTCGAGTCTGTCTG	0.468											OREG0024959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	44627365	G	A	44627365	3	1	100	1	0	0	0	0	1	0	0	0	7986	1059	37	1	1444	1	KATNAL2	18	44627365	Missense_Mutation	SNP	G	TCGA-BR-8676-01A-11D-2394-08		44627365	33449883	77	66216											
DSEL	92126	broad.mit.edu	37	chr18	65179255	65179255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgtttgagaatttcagctCctgaaccaggaagtgaggta	12	6	1	3			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr18:65179255C>T	uc002lke.1	-	2	3845	c.2621G>A	c.(2620-2622)GGA>GAA	p.G874E		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	864						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				AATTTCAGCTCCTGAACCAGG	0.428													T	65179255	C	T	65179255	3	4	100	1	0	0	0	0	1	0	0	0	4775	855	30	4	1051	4	DSEL	18	65179255	Missense_Mutation	SNP	C	TCGA-BR-8676-01A-11D-2394-08	20551890	65179255	12897993	78	66217											
LDLR	3949	broad.mit.edu	37	chr19	11200076	11200076	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacatttgaaaatcaccccaCtgcaaactcctccccctgct	4	17	1	1			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr19:11200076C>A	uc002mqk.3	+	1	20	c.-148C>A	c.(-150--146)CACTG>CAATG		LDLR_uc010xlk.1_Translation_Start_Site|LDLR_uc010xll.1_Translation_Start_Site|LDLR_uc010xlm.1_Translation_Start_Site|LDLR_uc010xln.1_Translation_Start_Site|LDLR_uc010xlo.1_Translation_Start_Site	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor						cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	AATCACCCCACTGCAAACTCC	0.522													A	11200076	C	A	11200076	1	1	100	1	0	0	0	0	0	0	0	0	8704	580	20	5		5	LDLR	19	11200076	Translation_Start_Site	SNP	C	TCGA-BR-8676-01A-11D-2394-08		11200076	47928907	79	66218											
ELL	8178	broad.mit.edu	37	chr19	18561438	18561438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgaggggctgccgtgtggCctgctgggctgggcacagtc	19	12	0	0			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr19:18561438C>T	uc002njh.2	-	8	1386	c.1314G>A	c.(1312-1314)AGG>AGA	p.R438R	ELL_uc010ebq.2_Silent_p.R381R|ELL_uc002njg.2_Silent_p.R305R	NM_006532	NP_006523	P55199	ELL_HUMAN	elongation factor RNA polymerase II	438					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			lung(1)	1				GBM - Glioblastoma multiforme(1328;7.81e-07)		TGCCGTGTGGCCTGCTGGGCT	0.692			T	MLL	AL								T	18561438	C	T	18561438	2	4	100	1	0	0	0	0	0	0	0	1	5062	738	26	2		2	ELL	19	18561438	Silent	SNP	C	TCGA-BR-8676-01A-11D-2394-08	7361362	18561438	40567545	80	66219											
ATP4A	495	broad.mit.edu	37	chr19	36050082	36050082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggcgcttggctgtcagGgacaggcagacctggggaag	18	10	1	1			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr19:36050082G>A	uc002oal.1	-	8	1097	c.1068C>T	c.(1066-1068)TCC>TCT	p.S356S	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	356	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TGGCTGTCAGGGACAGGCAGA	0.627													A	36050082	G	A	36050082	2	1	100	1	0	0	0	0	0	0	0	1	1145	1219	43	4		4	ATP4A	19	36050082	Silent	SNP	G	TCGA-BR-8676-01A-11D-2394-08	17488644	36050082	23078901	81	66220											
ZNF382	84911	broad.mit.edu	37	chr19	37117675	37117675	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcagagacctcaaacagaAgagaaaccctttcactgtcc	6	14	3	3			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr19:37117675A>C	uc002oek.2	+	5	989	c.876A>C	c.(874-876)GAA>GAC	p.E292D	ZNF382_uc010efa.2_Missense_Mutation_p.E243D|ZNF382_uc010efb.2_Missense_Mutation_p.E291D|ZNF382_uc002oel.2_Missense_Mutation_p.E291D	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	zinc finger protein 382	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTCAAACAGAAGAGAAACCCT	0.393													C	37117675	A	C	37117675	3	2	100	1	0	0	0	0	1	0	0	0	17870	69	3	5	886	5	ZNF382	19	37117675	Missense_Mutation	SNP	A	TCGA-BR-8676-01A-11D-2394-08	1067593	37117675	22011308	82	66221											
ZNF383	163087	broad.mit.edu	37	chr19	37734283	37734283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcagagctcacagcttcGtcaacatcagagaattcacg	7	12	5	2			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr19:37734283G>A	uc002oft.1	+	8	1725	c.1145G>A	c.(1144-1146)CGT>CAT	p.R382H	ZNF383_uc002ofs.1_Missense_Mutation_p.R317H|ZNF383_uc002ofu.1_Missense_Mutation_p.R382H	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	zinc finger protein 383	382	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACAGCTTCGTCAACATCAG	0.428													A	37734283	G	A	37734283	3	1	100	1	0	0	0	0	1	0	0	0	17871	1145	40	1	1159	1	ZNF383	19	37734283	Missense_Mutation	SNP	G	TCGA-BR-8676-01A-11D-2394-08	616608	37734283	21394700	83	66222											
LIG1	3978	broad.mit.edu	37	chr19	48624487	48624487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggccagcaggaagcccccGtaccggccggcccgcttccc	13	19	0	0			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr19:48624487G>A	uc002pia.1	-	24	2445	c.2325C>T	c.(2323-2325)TAC>TAT	p.Y775Y	LIG1_uc010xze.1_Silent_p.Y468Y|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Silent_p.Y707Y|LIG1_uc010xzg.1_Silent_p.Y744Y	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	775					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GGAAGCCCCCGTACCGGCCGG	0.652								NER					A	48624487	G	A	48624487	2	1	100	1	0	0	0	0	0	0	0	1	8781	1140	40	1		1	LIG1	19	48624487	Silent	SNP	G	TCGA-BR-8676-01A-11D-2394-08	10890204	48624487	10504496	84	66223											
KLK1	3816	broad.mit.edu	37	chr19	51322476	51322476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttctccgctatggtgtcctCgatccacttcacataagaca	7	13	2	1	rs138173062		TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr19:51322476C>T	uc002ptk.1	-	5	802	c.763G>A	c.(763-765)GAG>AAG	p.E255K	KLK1_uc010ycg.1_RNA	NM_002257	NP_002248	P06870	KLK1_HUMAN	kallikrein 1 preproprotein	255	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity				0		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGGTGTCCTCGATCCACTTC	0.542													T	51322476	C	T	51322476	3	4	100	1	0	0	0	0	1	0	0	0	8397	893	31	1	29	1	KLK1	19	51322476	Missense_Mutation	SNP	C	TCGA-BR-8676-01A-11D-2394-08	2697989	51322476	7806507	85	66224											
NLRP4	147945	broad.mit.edu	37	chr19	56369527	56369527	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttgatggagaaacggccGgtgcaggtgcttctgagcag	16	8	1	3	rs140962628	by1000genomes	TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr19:56369527G>A	uc002qmd.3	+	3	1190	c.768G>A	c.(766-768)CCG>CCA	p.P256P	NLRP4_uc002qmf.2_Silent_p.P181P|NLRP4_uc010etf.2_Silent_p.P87P	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	256	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGAAACGGCCGGTGCAGGTGC	0.582													A	56369527	G	A	56369527	2	1	100	1	0	0	0	0	0	0	0	1	10479	1103	39	1		1	NLRP4	19	56369527	Silent	SNP	G	TCGA-BR-8676-01A-11D-2394-08	5047051	56369527	2759456	86	66225											
ZNF416	55659	broad.mit.edu	37	chr19	58084322	58084322	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctccagtgtgaactctgTgatgtttaatgagggtggct	12	6	2	3			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr19:58084322T>C	uc002qpf.2	-	4	1121	c.950A>G	c.(949-951)CAC>CGC	p.H317R	ZNF547_uc002qpm.3_Intron	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	317	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GTGAACTCTGTGATGTTTAAT	0.438													C	58084322	T	C	58084322	3	2	100	1	0	0	0	0	1	0	0	0	17890	1696	59	3	838	3	ZNF416	19	58084322	Missense_Mutation	SNP	T	TCGA-BR-8676-01A-11D-2394-08	1714795	58084322	1044661	87	66226											
SIRPB1	10326	broad.mit.edu	37	chr20	1552595	1552595	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agggtgatgtctctgggagaGaagccatgggactcgcaggt	17	7	1	2			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr20:1552595G>T	uc010gai.2	-	3	621	c.522C>A	c.(520-522)TTC>TTA	p.F174L	SIRPB1_uc002wfk.3_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1 isoform 1	174	Ig-like C1-type 1.|Extracellular (Potential).				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			ovary(1)	1						CTCTGGGAGAGAAGCCATGGG	0.572													T	1552595	G	T	1552595	3	4	100	1	0	0	0	0	1	0	0	0	14333	933	33	5	686	5	SIRPB1	20	1552595	Missense_Mutation	SNP	G	TCGA-BR-8676-01A-11D-2394-08		1552595	61472925	88	66227											
E2F1	1869	broad.mit.edu	37	chr20	32265097	32265097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcagggcacaggaaaacatCgatcgggccttgtttgctct	11	11	2	0			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr20:32265097C>T	uc002wzu.3	-	6	1020	c.880G>A	c.(880-882)GAT>AAT	p.D294N	NECAB3_uc002wzm.3_5'Flank|NECAB3_uc002wzn.3_5'Flank|NECAB3_uc002wzo.3_5'Flank|NECAB3_uc002wzp.3_5'Flank|NECAB3_uc002wzq.3_5'Flank|NECAB3_uc002wzr.3_5'Flank|NECAB3_uc010geo.2_5'Flank	NM_005225	NP_005216	Q01094	E2F1_HUMAN	E2F transcription factor 1	294	Required for interaction with TRIM28.				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding				0						AGGAAAACATCGATCGGGCCT	0.527													T	32265097	C	T	32265097	3	4	100	1	0	0	0	0	1	0	0	0	4866	884	31	1	441	1	E2F1	20	32265097	Missense_Mutation	SNP	C	TCGA-BR-8676-01A-11D-2394-08	30712502	32265097	30760423	89	66228											
KCNB1	3745	broad.mit.edu	37	chr20	47991181	47991181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgcaagcttaaggatgcGgagaattcgcatgatgcgga	15	7	0	2			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr20:47991181G>A	uc002xur.1	-	2	1080	c.916C>T	c.(916-918)CGC>TGC	p.R306C	KCNB1_uc002xus.1_Missense_Mutation_p.R306C	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	306	Helical; Voltage-sensor; Name=Segment S4; (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTAAGGATGCGGAGAATTCGC	0.532													A	47991181	G	A	47991181	3	1	100	1	0	0	0	0	1	0	0	0	8012	1116	39	1	1664	1	KCNB1	20	47991181	Missense_Mutation	SNP	G	TCGA-BR-8676-01A-11D-2394-08	15726084	47991181	15034339	90	66229											
SFRS15	57466	broad.mit.edu	37	chr21	33065757	33065757	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgtcgatgccgagaccttcGagatctagaaccagatctag	10	11	2	4			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr21:33065757G>A	uc002ypd.2	-	12	1789	c.1363C>T	c.(1363-1365)CGA>TGA	p.R455*	SFRS15_uc002ype.2_Nonsense_Mutation_p.R455*|SFRS15_uc010glu.2_Nonsense_Mutation_p.R440*|SFRS15_uc002ypf.1_Nonsense_Mutation_p.R129*	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	455						nucleus	nucleotide binding|RNA binding				0						CGAGACCTTCGAGATCTAGAA	0.458													A	33065757	G	A	33065757	4	1	100	1	0	0	0	0	0	1	0	0	14171	1066	37	1	2116	1	SFRS15	21	33065757	Nonsense_Mutation	SNP	G	TCGA-BR-8676-01A-11D-2394-08		33065757	15064138	91	66230											
ATP7A	538	broad.mit.edu	37	chrX	77245091	77245091	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaagtataatgcaagcTcagtcactccagaatccctg	8	10	2	2			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chrX:77245091T>A	uc004ecx.3	+	4	1133	c.973T>A	c.(973-975)TCA>ACA	p.S325T	ATP7A_uc004ecw.2_Missense_Mutation_p.S325T	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	325	HMA 3.|Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						TAATGCAAGCTCAGTCACTCC	0.398													A	77245091	T	A	77245091	3	1	100	1	0	0	0	0	1	0	0	0	1190	1551	54	5	983	5	ATP7A	23	77245091	Missense_Mutation	SNP	T	TCGA-BR-8676-01A-11D-2394-08		77245091	78025469	92	66231											
GPR174	84636	broad.mit.edu	37	chrX	78426685	78426685	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgatatttatgataaacTtagccattgctgacttacta	6	7	0	3			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chrX:78426685T>A	uc004edg.1	+	1	217	c.181T>A	c.(181-183)TTA>ATA	p.L61I		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	putative purinergic receptor FKSG79	61	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)|central_nervous_system(1)	2						TATGATAAACTTAGCCATTGC	0.408										HNSCC(63;0.18)			A	78426685	T	A	78426685	3	1	100	1	0	0	0	0	1	0	0	0	6672	1606	56	5	183	5	GPR174	23	78426685	Missense_Mutation	SNP	T	TCGA-BR-8676-01A-11D-2394-08	1181594	78426685	76843875	93	66232											
IGSF1	3547	broad.mit.edu	37	chrX	130408109	130408109	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatggctagcactacccccaAggctacaacaaccaccacga	6	16	0	0			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chrX:130408109A>G	uc004ewd.2	-	19	4061	c.3823T>C	c.(3823-3825)TTG>CTG	p.L1275L	IGSF1_uc004ewe.3_Silent_p.L1269L|IGSF1_uc004ewf.2_Silent_p.L1255L	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	1275	Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						ACTACCCCCAAGGCTACAACA	0.527													G	130408109	A	G	130408109	2	3	100	1	0	0	0	0	0	0	0	1	7596	69	3	3		3	IGSF1	23	130408109	Silent	SNP	A	TCGA-BR-8676-01A-11D-2394-08	51981424	130408109	24862451	94	66233											
PRDM2	7799	broad.mit.edu	37	chr1	14142940	14142940	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctacagcctccgcttggcGtcccgatgctctccaccagc	9	18	1	0			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr1:14142940G>A	uc001avi.2	+	9	5911	c.5055G>A	c.(5053-5055)GCG>GCA	p.A1685A	PRDM2_uc001avg.2_Missense_Mutation_p.R177H|PRDM2_uc009voe.2_RNA|PRDM2_uc009vof.2_RNA	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1685						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TCCGCTTGGCGTCCCGATGCT	0.587													A	14142940	G	A	14142940	2	1	101	1	0	0	0	0	0	0	0	1	12458	1145	40	1		1	PRDM2	1	14142940	Silent	SNP	G	TCGA-BR-8677-01A-11D-2394-08		14142940	235107681	1	66234											
ARID1A	8289	broad.mit.edu	37	chr1	27023449	27023449	+	Frame_Shift_Del	DEL	G	G	-													cctggcctggcagcgctgcaGagcggcggcggcgggggcct							TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr1:27023449delG	uc001bmv.1	+	1	928	c.555delG	c.(553-555)CAGfs	p.Q185fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.Q185fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Q185fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	185					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q185*(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGCGCTGCAGAGCGGCGGCG	0.701			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								-	27023449	G	-	27023449	7	5	101	1	0	1	0	1	0	0	0	0	913	933	33	0	557	0	ARID1A	1	27023449	Frame_Shift_Del	DEL	G	TCGA-BR-8677-01A-11D-2394-08	12880509	27023449	222227172	2	66235											
HIVEP3	59269	broad.mit.edu	37	chr1	42047175	42047175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggcccttgcctcccggGggtccaccatgtgaggtggc	15	15	0	1			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr1:42047175G>A	uc001cgz.3	-	4	4507	c.3294C>T	c.(3292-3294)CCC>CCT	p.P1098P	HIVEP3_uc001cha.3_Silent_p.P1098P|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1098					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGCCTCCCGGGGGTCCACCAT	0.612													A	42047175	G	A	42047175	2	1	101	1	0	0	0	0	0	0	0	1	7188	1219	43	4		4	HIVEP3	1	42047175	Silent	SNP	G	TCGA-BR-8677-01A-11D-2394-08	15023726	42047175	207203446	3	66236											
INSRR	3645	broad.mit.edu	37	chr1	156816537	156816537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacccacgtgctctgtggcGttctggaatgggctgaacac	14	11	2	1			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr1:156816537G>A	uc010pht.1	-	8	1838	c.1584C>T	c.(1582-1584)AAC>AAT	p.N528N	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	528	Fibronectin type-III 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTCTGTGGCGTTCTGGAATG	0.617													A	156816537	G	A	156816537	2	1	101	1	0	0	0	0	0	0	0	1	7774	1136	40	1		1	INSRR	1	156816537	Silent	SNP	G	TCGA-BR-8677-01A-11D-2394-08	114769362	156816537	92434084	4	66237											
PTGS2	5743	broad.mit.edu	37	chr1	186645221	186645222	+	Frame_Shift_Ins	INS	-	-	ACCCA													cgattttggtactggaattgINStttgttgaaaagtagttctg							TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr1:186645220_186645221T>TACCCA	uc001gsb.3	-	7	1203_1204	c.1066_1067A>TGGGTA	c.(1066-1068)caafs	p.Q356fs	PTGS2_uc009wyo.3_Frame_Shift_Ins_p.Q203fs	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	356					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	GTACTGGAATTGTTTGTTGAAA	0.381													ACCCA	186645222	-	ACCCA	186645221	7	5	101	1	0	1	1	0	0	0	0	0	12756	1386	48	0	760	0	PTGS2	1	186645221	Frame_Shift_Ins	INS	-	TCGA-BR-8677-01A-11D-2394-08	29828684	186645221	62605400	5	66238											
LRRN2	10446	broad.mit.edu	37	chr1	204587773	204587773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagatctcgggttcgggttCggccagtgcccggcaatgca	15	11	1	1			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr1:204587773C>T	uc001hbe.1	-	3	1736	c.1348G>A	c.(1348-1350)GAA>AAA	p.E450K	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.E450K|LRRN2_uc009xbf.1_Missense_Mutation_p.E450K|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	450	Ig-like C2-type.|Extracellular (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGTTCGGGTTCGGCCAGTGCC	0.642													T	204587773	C	T	204587773	3	4	101	1	0	0	0	0	1	0	0	0	9035	893	31	1	797	1	LRRN2	1	204587773	Missense_Mutation	SNP	C	TCGA-BR-8677-01A-11D-2394-08	17942552	204587773	44662848	6	66239											
NEB	4703	broad.mit.edu	37	chr2	152385745	152385745	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgttgactttgtaggcGtccttggctgctttgatatg	13	6	0	2			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr2:152385745G>A	uc010fnx.2	-	118	16802	c.16611C>T	c.(16609-16611)GAC>GAT	p.D5537D	NEB_uc002txr.2_Silent_p.D1960D|NEB_uc002txt.3_Silent_p.D42D	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5537	Nebulin 151.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTTGTAGGCGTCCTTGGCTG	0.438													A	152385745	G	A	152385745	2	1	101	1	0	0	0	0	0	0	0	1	10302	1136	40	1		1	NEB	2	152385745	Silent	SNP	G	TCGA-BR-8677-01A-11D-2394-08		152385745	90813628	7	66240											
TTN	7273	broad.mit.edu	37	chr2	179587650	179587650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaggttccagttccgtaaCaaaataaggcggttctaagg	11	8	1	1			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr2:179587650C>T	uc010zfg.1	-	73	18468	c.18244G>A	c.(18244-18246)GTT>ATT	p.V6082I	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V2743I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7009							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTCCGTAACAAAATAAGGC	0.403													T	179587650	C	T	179587650	3	4	101	1	0	0	0	0	1	0	0	0	16732	478	17	4	82701	4	TTN	2	179587650	Missense_Mutation	SNP	C	TCGA-BR-8677-01A-11D-2394-08	27201905	179587650	63611723	8	66241											
PLCL1	5334	broad.mit.edu	37	chr2	198949579	198949579	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaagcgttgaactcgatgtAagtgatggttcagataatga	12	5	1	4			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr2:198949579A>C	uc010fsp.2	+	2	1629	c.1338A>C	c.(1336-1338)GTA>GTC	p.V446V	PLCL1_uc002uuv.3_Silent_p.V367V	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	446	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	AACTCGATGTAAGTGATGGTT	0.393													C	198949579	A	C	198949579	2	2	101	1	0	0	0	0	0	0	0	1	12039	349	13	5		5	PLCL1	2	198949579	Silent	SNP	A	TCGA-BR-8677-01A-11D-2394-08	19361929	198949579	44249794	9	66242											
D2HGDH	728294	broad.mit.edu	37	chr2	242683123	242683123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcatgccgctggacttaGgagccaagggcagctgccac	12	13	2	0			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr2:242683123G>A	uc002wce.1	+	5	750	c.577G>A	c.(577-579)GGA>AGA	p.G193R	D2HGDH_uc010zpc.1_RNA|D2HGDH_uc010fzq.1_Missense_Mutation_p.G59R|D2HGDH_uc002wcg.1_RNA	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase precursor	193	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GCTGGACTTAGGAGCCAAGGG	0.607													A	242683123	G	A	242683123	3	1	101	1	0	0	0	0	1	0	0	0	4213	1001	35	4	591	4	D2HGDH	2	242683123	Missense_Mutation	SNP	G	TCGA-BR-8677-01A-11D-2394-08	43733544	242683123	516250	10	66243											
CAPN7	23473	broad.mit.edu	37	chr3	15271957	15271957	+	Frame_Shift_Del	DEL	A	A	-													ttcttacaaaagcataatttAccctcaaaacaaggatggtg							TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr3:15271956_15271956TA>T	uc003bzn.3	+	8	1216	c.946_946TA>T	c.(946-948)tacfs	p.Y316fs		NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	Homo sapiens calpain 7 (CAPN7), mRNA.	316	Calpain catalytic.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						AAGCATAATTTACCCTCAAAA	0.328													-	15271957	A	-	15271957	7	5	101	1	0	1	0	1	0	0	0	0	2631	391	14	0	981	0	CAPN7	3	15271957	Frame_Shift_Del	DEL	A	TCGA-BR-8677-01A-11D-2394-08		15271957	182750473	11	66244											
TRAK1	22906	broad.mit.edu	37	chr3	42261066	42261066	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcatcctgcatccttcagatGagctcactcgggtcacacca	8	15	3	2			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr3:42261066G>A	uc003cky.2	+	15	2260	c.2044G>A	c.(2044-2046)GAG>AAG	p.E682K	TRAK1_uc011azi.1_Missense_Mutation_p.E661K	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	682					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						TCCTTCAGATGAGCTCACTCG	0.557													A	42261066	G	A	42261066	3	1	101	1	0	0	0	0	1	0	0	0	16446	1291	45	4	2490	4	TRAK1	3	42261066	Missense_Mutation	SNP	G	TCGA-BR-8677-01A-11D-2394-08	26989109	42261066	155761364	12	66245											
NBEAL2	23218	broad.mit.edu	37	chr3	47041809	47041809	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgctcctggccgccacagctCcagtctctccaatgtgctgg	10	16	1	0			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr3:47041809C>A	uc003cqp.2	+	27	4399	c.4220C>A	c.(4219-4221)TCC>TAC	p.S1407Y	NBEAL2_uc010hjm.1_Missense_Mutation_p.S784Y|NBEAL2_uc010hjn.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1407							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CGCCACAGCTCCAGTCTCTCC	0.667													A	47041809	C	A	47041809	3	1	101	1	0	0	0	0	1	0	0	0	10189	855	30	5	4326	5	NBEAL2	3	47041809	Missense_Mutation	SNP	C	TCGA-BR-8677-01A-11D-2394-08	4780743	47041809	150980621	13	66246											
PROS1	5627	broad.mit.edu	37	chr3	93615512	93615512	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcatactttgtgtcaaggttCaagggaaggcacactgaaac	10	8	3	1			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr3:93615512C>G	uc003drb.3	-	9	1214	c.873G>C	c.(871-873)TTG>TTC	p.L291F	PROS1_uc010hoo.2_Missense_Mutation_p.L160F|PROS1_uc003dqz.3_Missense_Mutation_p.L160F	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	291					leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TGTCAAGGTTCAAGGGAAGGC	0.368													G	93615512	C	G	93615512	3	3	101	1	0	0	0	0	1	0	0	0	12558	825	29	5	1185	5	PROS1	3	93615512	Missense_Mutation	SNP	C	TCGA-BR-8677-01A-11D-2394-08	46573703	93615512	104406918	14	66247											
KALRN	8997	broad.mit.edu	37	chr3	123987823	123987823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctctcggcggctcattgaCgaacacacacagctcaagaa	10	13	3	2			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr3:123987823C>T	uc003ehg.2	+	5	811	c.684C>T	c.(682-684)GAC>GAT	p.D228D	KALRN_uc010hrv.1_Silent_p.D228D|KALRN_uc003ehf.1_Silent_p.D228D|KALRN_uc011bjy.1_Silent_p.D228D	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	228	Spectrin 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GGCTCATTGACGAACACACAC	0.642													T	123987823	C	T	123987823	2	4	101	1	0	0	0	0	0	0	0	1	7975	535	19	1		1	KALRN	3	123987823	Silent	SNP	C	TCGA-BR-8677-01A-11D-2394-08	30372311	123987823	74034607	15	66248											
PLXND1	23129	broad.mit.edu	37	chr3	129325170	129325170	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgcggcagctgcggagcgtGacacagcgggctgtcgggca	18	12	0	1			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr3:129325170G>A	uc003emx.2	-	1	413	c.313C>T	c.(313-315)CAC>TAC	p.H105Y		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	105	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						TGCGGAGCGTGACACAGCGGG	0.711													A	129325170	G	A	129325170	3	1	101	1	0	0	0	0	1	0	0	0	12127	1290	45	4	5608	4	PLXND1	3	129325170	Missense_Mutation	SNP	G	TCGA-BR-8677-01A-11D-2394-08	5337347	129325170	68697260	16	66249											
CRIPAK	285464	broad.mit.edu	37	chr4	1388882	1388882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgatcacacgtgcccatGtggagtgctcgcctgctcac	11	15	2	1			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr4:1388882G>A	uc003gdf.2	+	1	3543	c.583G>A	c.(583-585)GTG>ATG	p.V195M		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	195					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			ACGTGCCCATGTGGAGTGCTC	0.657													A	1388882	G	A	1388882	3	1	101	1	0	0	0	0	1	0	0	0	3877	1377	48	4	585	4	CRIPAK	4	1388882	Missense_Mutation	SNP	G	TCGA-BR-8677-01A-11D-2394-08		1388882	189765394	17	66250											
SRP72	6731	broad.mit.edu	37	chr4	57357732	57357735	+	Frame_Shift_Del	DEL	AGGG	AGGG	-													gatagtcaaccaaaggaacaAgggtaatatttttcattgta							TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr4:57357731_57357734AAGGG>A	uc003hbv.3	+	15	1677_1680	c.1637_1640AAGGG>A	c.(1636-1641)caaggafs	p.Q546fs	SRP72_uc010ihe.3_Frame_Shift_Del_p.Q485fs	NM_006947	NP_008878	O76094	SRP72_HUMAN	Homo sapiens signal recognition particle 72kDa (SRP72), mRNA.	546					SRP-dependent cotranslational protein targeting to membrane|response to drug	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CCAAAGGAACAAGGGTAATATTTT	0.328													-	57357735	AGGG	-	57357732	7	5	101	1	0	1	0	1	0	0	0	0	15156	69	3	0	1700	0	SRP72	4	57357732	Frame_Shift_Del	DEL	AGGG	TCGA-BR-8677-01A-11D-2394-08	55968850	57357732	133796544	18	66251											
PRMT10	90826	broad.mit.edu	37	chr4	148575180	148575180	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taggaaagtgattggcttcaGatatgaggtccagagcaata	12	5	1	4			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr4:148575180G>A	uc003ilc.2	-	9	2010	c.1868C>T	c.(1867-1869)TCT>TTT	p.S623F	PRMT10_uc003ilb.2_Missense_Mutation_p.S267F|PRMT10_uc003ild.2_Missense_Mutation_p.S510F	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10	623						cytoplasm	binding|protein methyltransferase activity			ovary(1)|central_nervous_system(1)	2						ATTGGCTTCAGATATGAGGTC	0.443													A	148575180	G	A	148575180	3	1	101	1	0	0	0	0	1	0	0	0	12536	942	33	4	685	4	PRMT10	4	148575180	Missense_Mutation	SNP	G	TCGA-BR-8677-01A-11D-2394-08	91217448	148575180	42579096	19	66252											
MRPL36	64979	broad.mit.edu	37	chr5	1798960	1798960	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacctcgaatggatccaaaTagaaatgtggagagggctcg	13	8	0	2			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr5:1798960T>C	uc003jcx.3	-	2	153	c.90A>G	c.(88-90)CTA>CTG	p.L30L	NDUFS6_uc003jcy.2_5'Flank	NM_032479	NP_115868	Q9P0J6	RM36_HUMAN	mitochondrial ribosomal protein L36 precursor	30					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome				0				GBM - Glioblastoma multiforme(108;0.241)		TGGATCCAAATAGAAATGTGG	0.562													C	1798960	T	C	1798960	2	2	101	1	0	0	0	0	0	0	0	1	9799	1393	49	3		3	MRPL36	5	1798960	Silent	SNP	T	TCGA-BR-8677-01A-11D-2394-08		1798960	179116300	20	66253											
C5orf38	153571	broad.mit.edu	37	chr5	2752817	2752817	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgaagcctcccagtcacgtCgagaacgggcaggagctcag	13	13	2	2			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr5:2752817C>T	uc003jdc.2	+	2	399	c.282C>T	c.(280-282)GTC>GTT	p.V94V	C5orf38_uc011cmg.1_Silent_p.V94V|C5orf38_uc011cmh.1_RNA|C5orf38_uc011cmi.1_RNA|C5orf38_uc011cmj.1_Intron	NM_178569	NP_848664	Q86SI9	CEI_HUMAN	hypothetical protein LOC153571 precursor	94						extracellular region					0				GBM - Glioblastoma multiforme(108;0.205)		CCAGTCACGTCGAGAACGGGC	0.597													T	2752817	C	T	2752817	2	4	101	1	0	0	0	0	0	0	0	1	2296	871	31	1		1	C5orf38	5	2752817	Silent	SNP	C	TCGA-BR-8677-01A-11D-2394-08	953857	2752817	178162443	21	66254											
HSPB3	8988	broad.mit.edu	37	chr5	53751847	53751847	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactttcagatcctgctggaCgtggtccagttcctccctga	9	14	1	2			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr5:53751847C>T	uc003jph.1	+	1	403	c.228C>T	c.(226-228)GAC>GAT	p.D76D		NM_006308	NP_006299	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	76					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus					0		Lung NSC(810;0.00104)				TCCTGCTGGACGTGGTCCAGT	0.547													T	53751847	C	T	53751847	2	4	101	1	0	0	0	0	0	0	0	1	7421	535	19	1		1	HSPB3	5	53751847	Silent	SNP	C	TCGA-BR-8677-01A-11D-2394-08	50999030	53751847	127163413	22	66255											
SEMA6A	57556	broad.mit.edu	37	chr5	115783361	115783361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcgctgcaccacagccaCgtctttgcgccgatgatcac	9	16	2	1			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr5:115783361C>T	uc010jck.2	-	19	2750	c.2041G>A	c.(2041-2043)GTG>ATG	p.V681M	SEMA6A_uc003krx.3_Missense_Mutation_p.V698M|SEMA6A_uc011cwe.1_Missense_Mutation_p.V60M|SEMA6A_uc003krv.3_Missense_Mutation_p.V108M|SEMA6A_uc003krw.3_Missense_Mutation_p.V158M|SEMA6A_uc010jcj.2_Missense_Mutation_p.V225M	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	681	Cytoplasmic (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ACCACAGCCACGTCTTTGCGC	0.617													T	115783361	C	T	115783361	3	4	101	1	0	0	0	0	1	0	0	0	14039	536	19	1	1055	1	SEMA6A	5	115783361	Missense_Mutation	SNP	C	TCGA-BR-8677-01A-11D-2394-08	62031514	115783361	65131899	23	66256											
ADAMTS19	171019	broad.mit.edu	37	chr5	128864285	128864285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggcaacatgaagaatttGgcaaaaagaatgatatacat	9	4	0	4			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr5:128864285G>A	uc003kvb.1	+	6	1225	c.1225G>A	c.(1225-1227)GGC>AGC	p.G409S	ADAMTS19_uc003kvc.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	409	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGAAGAATTTGGCAAAAAGAA	0.373													A	128864285	G	A	128864285	3	1	101	1	0	0	0	0	1	0	0	0	264	1348	47	4	1247	4	ADAMTS19	5	128864285	Missense_Mutation	SNP	G	TCGA-BR-8677-01A-11D-2394-08	13080924	128864285	52050975	24	66257											
UNC5A	90249	broad.mit.edu	37	chr5	176301546	176301546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcaacttcctcgggggcCggctgatgatccctaataca	9	14	1	2			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr5:176301546C>T	uc003mey.2	+	8	1549	c.1357C>T	c.(1357-1359)CGG>TGG	p.R453W	UNC5A_uc010jkg.1_Missense_Mutation_p.R413W	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	453	ZU5.|Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCGGGGGCCGGCTGATGAT	0.627													T	176301546	C	T	176301546	3	4	101	1	0	0	0	0	1	0	0	0	16988	643	23	1	1387	1	UNC5A	5	176301546	Missense_Mutation	SNP	C	TCGA-BR-8677-01A-11D-2394-08	47437261	176301546	4613714	25	66258											
HIST1H2AG	8969	broad.mit.edu	37	chr6	27101073	27101073	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcaacgcggcccgcgacaacAagaagacccgcatcatcccg	10	17	1	2			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr6:27101073A>T	uc003niw.2	+	1	257	c.223A>T	c.(223-225)AAG>TAG	p.K75*	HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	75					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding				0						CCGCGACAACAAGAAGACCCG	0.662													T	27101073	A	T	27101073	4	4	101	1	0	0	0	0	0	1	0	0	7133	131	5	5	225	5	HIST1H2AG	6	27101073	Nonsense_Mutation	SNP	A	TCGA-BR-8677-01A-11D-2394-08		27101073	144013994	26	66259											
OR2W1	26692	broad.mit.edu	37	chr6	29012864	29012864	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaagtagaagatggcgacaActcctgacaggatcatctcc	9	10	2	3			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr6:29012864A>C	uc003nlw.2	-	1	89	c.89T>G	c.(88-90)GTT>GGT	p.V30G		NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						GATGGCGACAACTCCTGACAG	0.408													C	29012864	A	C	29012864	3	2	101	1	0	0	0	0	1	0	0	0	11032	43	2	5	877	5	OR2W1	6	29012864	Missense_Mutation	SNP	A	TCGA-BR-8677-01A-11D-2394-08	1911791	29012864	142102203	27	66260											
SLC44A4	80736	broad.mit.edu	37	chr6	31838613	31838613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagccaggtctcctgcaCgctctggtaggcactgaggt	14	13	2	1			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr6:31838613C>T	uc010jti.2	-	10	979	c.913G>A	c.(913-915)GTG>ATG	p.V305M	SLC44A4_uc011dol.1_Missense_Mutation_p.V229M|SLC44A4_uc011dom.1_Missense_Mutation_p.V263M	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	305	Extracellular (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)	GTCTCCTGCACGCTCTGGTAG	0.687													T	31838613	C	T	31838613	3	4	101	1	0	0	0	0	1	0	0	0	14638	536	19	1	1267	1	SLC44A4	6	31838613	Missense_Mutation	SNP	C	TCGA-BR-8677-01A-11D-2394-08	2825749	31838613	139276454	28	66261											
TREML2	79865	broad.mit.edu	37	chr6	41160244	41160244	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatcgctgcacatgctgtagCctgcaagaaacagggagagc	13	10	0	2			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr6:41160244C>A	uc010jxm.1	-	5	1066	c.887G>T	c.(886-888)AGC>ATC	p.S296I		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid	296	Cytoplasmic (Potential).				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)					CATGCTGTAGCCTGCAAGAAA	0.592													A	41160244	C	A	41160244	3	1	101	1	0	0	0	0	1	0	0	0	16470	753	26	5	82	5	TREML2	6	41160244	Missense_Mutation	SNP	C	TCGA-BR-8677-01A-11D-2394-08	9321631	41160244	129954823	29	66262											
TMEM195	392636	broad.mit.edu	37	chr7	15425094	15425094	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtatctgcaaaggtctcttCataaaatgccaacatcagag	7	9	4	1			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr7:15425094C>T	uc003stb.1	-	10	1221	c.1051G>A	c.(1051-1053)GAA>AAA	p.E351K		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	351	Helical; (Potential).				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0						AAGGTCTCTTCATAAAATGCC	0.358													T	15425094	C	T	15425094	3	4	101	1	0	0	0	0	1	0	0	0	16114	835	29	4	302	4	TMEM195	7	15425094	Missense_Mutation	SNP	C	TCGA-BR-8677-01A-11D-2394-08		15425094	143713569	30	66263											
AGR2	10551	broad.mit.edu	37	chr7	16841334	16841334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcctttgtgtcctttttGgctccaggtttgactgtggt	12	8	0	1			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr7:16841334G>A	uc003str.2	-	2	274	c.87C>T	c.(85-87)GCC>GCT	p.A29A	AGR2_uc011jxy.1_Silent_p.A29A	NM_006408	NP_006399	O95994	AGR2_HUMAN	anterior gradient 2 homolog precursor	29					mucus secretion	endoplasmic reticulum|extracellular region	protein binding				0	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TGTCCTTTTTGGCTCCAGGTT	0.493													A	16841334	G	A	16841334	2	1	101	1	0	0	0	0	0	0	0	1	395	1335	47	4		4	AGR2	7	16841334	Silent	SNP	G	TCGA-BR-8677-01A-11D-2394-08	1416240	16841334	142297329	31	66264											
ZNF273	10793	broad.mit.edu	37	chr7	64388475	64388475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctaaacataagataattcatCctgaagtgaatccctacaaa	4	9	1	3			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr7:64388475C>T	uc003tto.2	+	4	845	c.769C>T	c.(769-771)CCT>TCT	p.P257S	ZNF273_uc003ttl.2_Missense_Mutation_p.P192S|ZNF273_uc003ttn.2_Missense_Mutation_p.P192S	NM_021148	NP_066971	Q14593	ZN273_HUMAN	zinc finger protein 273	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GATAATTCATCCTGAAGTGAA	0.328													T	64388475	C	T	64388475	3	4	101	1	0	0	0	0	1	0	0	0	17805	855	30	4	783	4	ZNF273	7	64388475	Missense_Mutation	SNP	C	TCGA-BR-8677-01A-11D-2394-08	47547141	64388475	94750188	32	66265											
STRA8	346673	broad.mit.edu	37	chr7	134931359	134931360	+	Frame_Shift_Ins	INS	-	-	C													ccctgcgaccctggcggaggINScctgccgagagccggcctgt							TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr7:134931359_134931360insC	uc011kpx.1	+	6	637_638	c.637_638insC	c.(637-639)GCCfs	p.A213fs		NM_182489	NP_872295	Q7Z7C7	STRA8_HUMAN	STRA8	213					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus					0						CCTGGCGGAGGCCTGCCGAGAG	0.728													C	134931360	-	C	134931359	7	5	101	1	0	1	1	0	0	0	0	0	15322	1203	42	0	659	0	STRA8	7	134931359	Frame_Shift_Ins	INS	-	TCGA-BR-8677-01A-11D-2394-08	70542884	134931359	24207304	33	66266											
CRISPLD1	83690	broad.mit.edu	37	chr8	75932271	75932271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgacttgtgaaacaactgtgGaacagctctgtccatttcat	8	9	2	2			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr8:75932271G>A	uc003yan.2	+	12	1576	c.1201G>A	c.(1201-1203)GAA>AAA	p.E401K	CRISPLD1_uc011lfk.1_Missense_Mutation_p.E213K|CRISPLD1_uc011lfl.1_Missense_Mutation_p.E213K	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	401	LCCL 2.					extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			AACAACTGTGGAACAGCTCTG	0.408													A	75932271	G	A	75932271	3	1	101	1	0	0	0	0	1	0	0	0	3882	1175	41	4	1243	4	CRISPLD1	8	75932271	Missense_Mutation	SNP	G	TCGA-BR-8677-01A-11D-2394-08		75932271	70431751	34	66267											
KCNS2	3788	broad.mit.edu	37	chr8	99441350	99441350	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggggtacggggatgtggtCccagggaccacggcaggaaa	19	8	0	0			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr8:99441350C>T	uc003yin.2	+	2	1493	c.1143C>T	c.(1141-1143)GTC>GTT	p.V381V		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	381						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GGGATGTGGTCCCAGGGACCA	0.592													T	99441350	C	T	99441350	2	4	101	1	0	0	0	0	0	0	0	1	8089	842	30	4		4	KCNS2	8	99441350	Silent	SNP	C	TCGA-BR-8677-01A-11D-2394-08	23509079	99441350	46922672	35	66268											
CSMD3	114788	broad.mit.edu	37	chr8	114186070	114186070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtagcggatcttgtccCcgacgtcgaatcttgtgcca	11	12	2	0			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr8:114186070C>T	uc003ynu.2	-	4	749	c.590G>A	c.(589-591)GGG>GAG	p.G197E	CSMD3_uc003ynt.2_Missense_Mutation_p.G157E|CSMD3_uc011lhx.1_Missense_Mutation_p.G197E|CSMD3_uc010mcx.1_Missense_Mutation_p.G197E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	197	Extracellular (Potential).|Sushi 1.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GATCTTGTCCCCGACGTCGAA	0.458										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	114186070	C	T	114186070	3	4	101	1	0	0	0	0	1	0	0	0	3946	623	22	4	10805	4	CSMD3	8	114186070	Missense_Mutation	SNP	C	TCGA-BR-8677-01A-11D-2394-08	14744720	114186070	32177952	36	66269											
TG	7038	broad.mit.edu	37	chr8	133900456	133900456	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggatctgacgcctgccaagCtgctagtgaagatcatgagc	12	10	2	4			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr8:133900456C>A	uc003ytw.2	+	10	2445	c.2404C>A	c.(2404-2406)CTG>ATG	p.L802M		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	802	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCCTGCCAAGCTGCTAGTGAA	0.522													A	133900456	C	A	133900456	3	1	101	1	0	0	0	0	1	0	0	0	15810	796	28	5	2442	5	TG	8	133900456	Missense_Mutation	SNP	C	TCGA-BR-8677-01A-11D-2394-08	19714386	133900456	12463566	37	66270											
FLJ43860	389690	broad.mit.edu	37	chr8	142500353	142500353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcatgttgctggccgcGtcctggtatatgtcttccag	11	12	1	0			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr8:142500353G>A	uc003ywi.2	-	5	642	c.561C>T	c.(559-561)GAC>GAT	p.D187D	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	187							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGCTGGCCGCGTCCTGGTATA	0.632													A	142500353	G	A	142500353	2	1	101	1	0	0	0	0	0	0	0	1	5930	1136	40	1		1	FLJ43860	8	142500353	Silent	SNP	G	TCGA-BR-8677-01A-11D-2394-08	8599897	142500353	3863669	38	66271											
GABBR2	9568	broad.mit.edu	37	chr9	101148039	101148039	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggttgttcatgtatggactCgacatctttatgagcctgac	10	8	2	2			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr9:101148039C>T	uc004ays.2	-	11	1701	c.1545G>A	c.(1543-1545)TCG>TCA	p.S515S		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	515	Cytoplasmic (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TGTATGGACTCGACATCTTTA	0.388													T	101148039	C	T	101148039	2	4	101	1	0	0	0	0	0	0	0	1	6156	871	31	1		1	GABBR2	9	101148039	Silent	SNP	C	TCGA-BR-8677-01A-11D-2394-08		101148039	40065392	39	66272											
TGFBR1	7046	broad.mit.edu	37	chr9	101904872	101904872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agattatcatgagcatggatCcctttttgattacttaaaca	6	7	1	3			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr9:101904872C>T	uc004azc.2	+	5	936	c.860C>T	c.(859-861)TCC>TTC	p.S287F	TGFBR1_uc004azd.2_Missense_Mutation_p.S210F|TGFBR1_uc011lvc.1_Missense_Mutation_p.S218F	NM_004612	NP_004603	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor I	287	Protein kinase.|Cytoplasmic (Potential).				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			lung(2)|ovary(1)	3		Acute lymphoblastic leukemia(62;0.0559)				GAGCATGGATCCCTTTTTGAT	0.428													T	101904872	C	T	101904872	3	4	101	1	0	0	0	0	1	0	0	0	15818	855	30	4	878	4	TGFBR1	9	101904872	Missense_Mutation	SNP	C	TCGA-BR-8677-01A-11D-2394-08	756833	101904872	39308559	40	66273											
UCK1	83549	broad.mit.edu	37	chr9	134404543	134404543	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagcctgacgtcggagtcGgtgtccacgaagaggcgcag	16	11	0	2	rs149130090	byFrequency	TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr9:134404543G>A	uc004cay.2	-	4	581	c.480C>T	c.(478-480)ACC>ACT	p.T160T	UCK1_uc010mzk.2_Silent_p.T151T|UCK1_uc004cba.2_Silent_p.T160T|UCK1_uc004caz.2_RNA	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1 isoform a	160					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		CGTCGGAGTCGGTGTCCACGA	0.647													A	134404543	G	A	134404543	2	1	101	1	0	0	0	0	0	0	0	1	16920	1103	39	1		1	UCK1	9	134404543	Silent	SNP	G	TCGA-BR-8677-01A-11D-2394-08	32499671	134404543	6808888	41	66274											
SLK	9748	broad.mit.edu	37	chr10	105777982	105777982	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaaaagatcatccagcAgcagaaggcagagttagcta	10	8	2	4			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr10:105777982A>C	uc001kxo.1	+	14	2976	c.2942A>C	c.(2941-2943)CAG>CCG	p.Q981P	SLK_uc001kxp.1_Missense_Mutation_p.Q950P	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	981	Potential.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATCATCCAGCAGCAGAAGGCA	0.338													C	105777982	A	C	105777982	3	2	101	1	0	0	0	0	1	0	0	0	14748	188	7	5	2996	5	SLK	10	105777982	Missense_Mutation	SNP	A	TCGA-BR-8677-01A-11D-2394-08		105777982	29756765	42	66275											
TSSC4	10078	broad.mit.edu	37	chr11	2424220	2424220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaccagcatgagtgacaaCggaggcttcaagcggcccct	11	14	1	2	rs142339475		TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr11:2424220C>T	uc001lwj.2	+	4	718	c.357C>T	c.(355-357)AAC>AAT	p.N119N	TSSC4_uc001lwi.2_Silent_p.N55N|TSSC4_uc001lwk.2_Silent_p.N119N|TSSC4_uc001lwl.2_Silent_p.N119N	NM_005706	NP_005697	Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	119											0		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAGTGACAACGGAGGCTTCA	0.682													T	2424220	C	T	2424220	2	4	101	1	0	0	0	0	0	0	0	1	16664	535	19	1		1	TSSC4	11	2424220	Silent	SNP	C	TCGA-BR-8677-01A-11D-2394-08		2424220	132582296	43	66276											
UBQLN3	50613	broad.mit.edu	37	chr11	5530122	5530122	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggcagggttacgtaaaaActccagtgtctgccgcataa	10	10	1	0			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr11:5530122A>G	uc001may.1	-	2	753	c.667T>C	c.(667-669)TTT>CTT	p.F223L	HBG2_uc001mak.1_Intron	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	223										ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTACGTAAAAACTCCAGTGTC	0.507													G	5530122	A	G	5530122	3	3	101	1	0	0	0	0	1	0	0	0	16895	43	2	3	1304	3	UBQLN3	11	5530122	Missense_Mutation	SNP	A	TCGA-BR-8677-01A-11D-2394-08	3105902	5530122	129476394	44	66277											
SCUBE2	57758	broad.mit.edu	37	chr11	9069615	9069615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatgtaaggtttacgtagCggaagctctcttttactgag	11	7	1	1			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr11:9069615C>T	uc001mhh.1	-	14	1663	c.1583G>A	c.(1582-1584)CGC>CAC	p.R528H	SCUBE2_uc001mhi.1_Missense_Mutation_p.R557H|SCUBE2_uc001mhj.1_Intron	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	528						extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GTTTACGTAGCGGAAGCTCTC	0.473													T	9069615	C	T	9069615	3	4	101	1	0	0	0	0	1	0	0	0	13945	768	27	1	1452	1	SCUBE2	11	9069615	Missense_Mutation	SNP	C	TCGA-BR-8677-01A-11D-2394-08	3539493	9069615	125936901	45	66278											
OR5R1	219479	broad.mit.edu	37	chr11	56184809	56184809	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttatccaaggctttctttgaGgcatctttcacttctttgtt	6	9	4	1			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr11:56184809G>C	uc010rji.1	-	1	900	c.900C>G	c.(898-900)GCC>GCG	p.A300A		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					CTTTCTTTGAGGCATCTTTCA	0.333													C	56184809	G	C	56184809	2	2	101	1	0	0	0	0	0	0	0	1	11180	987	35	5		5	OR5R1	11	56184809	Silent	SNP	G	TCGA-BR-8677-01A-11D-2394-08	47115194	56184809	78821707	46	66279											
SERPING1	710	broad.mit.edu	37	chr11	57373905	57373905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaagacaacatttgatcCcaagaaaaccagaatggaac	9	8	0	4			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr11:57373905C>T	uc001nkp.1	+	6	1105	c.914C>T	c.(913-915)CCC>CTC	p.P305L	SERPING1_uc001nkq.1_Missense_Mutation_p.P305L|SERPING1_uc010rju.1_Missense_Mutation_p.P253L|SERPING1_uc010rjv.1_Missense_Mutation_p.P310L|SERPING1_uc001nkr.1_Missense_Mutation_p.P305L|SERPING1_uc009ymi.1_Missense_Mutation_p.P314L|SERPING1_uc009ymj.1_Missense_Mutation_p.P305L|SERPING1_uc001nks.1_5'UTR	NM_000062	NP_000053	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	305					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)	1						ACATTTGATCCCAAGAAAACC	0.438									Hereditary_Angioedema				T	57373905	C	T	57373905	3	4	101	1	0	0	0	0	1	0	0	0	14116	623	22	4	932	4	SERPING1	11	57373905	Missense_Mutation	SNP	C	TCGA-BR-8677-01A-11D-2394-08	1189096	57373905	77632611	47	66280											
GRM5	2915	broad.mit.edu	37	chr11	88583181	88583181	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaccacccgggccttgggCaagtgacttgtgagcttctt	12	13	1	2			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr11:88583181C>A	uc001pcq.2	-	2	1004	c.804G>T	c.(802-804)TTG>TTT	p.L268F	GRM5_uc009yvm.2_Missense_Mutation_p.L268F	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	268	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GGGCCTTGGGCAAGTGACTTG	0.552													A	88583181	C	A	88583181	3	1	101	1	0	0	0	0	1	0	0	0	6800	709	25	5	2866	5	GRM5	11	88583181	Missense_Mutation	SNP	C	TCGA-BR-8677-01A-11D-2394-08	31209276	88583181	46423335	48	66281											
SPA17	53340	broad.mit.edu	37	chr11	124551345	124551345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaccgcttctataacaatcAtgcattcgaggtatggtcct	8	10	2	1			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr11:124551345A>G	uc001qap.2	+	3	351	c.215A>G	c.(214-216)CAT>CGT	p.H72R		NM_017425	NP_059121	Q15506	SP17_HUMAN	sperm autoantigenic protein 17	72					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		TATAACAATCATGCATTCGAG	0.363													G	124551345	A	G	124551345	3	3	101	1	0	0	0	0	1	0	0	0	14971	217	8	3	221	3	SPA17	11	124551345	Missense_Mutation	SNP	A	TCGA-BR-8677-01A-11D-2394-08	35968164	124551345	10455171	49	66282											
NCAPD3	23310	broad.mit.edu	37	chr11	134086906	134086907	+	Frame_Shift_Ins	INS	-	-	CA													actgtacactgacattcttcINSttatgaactatttgaacaaa							TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr11:134086905_134086906T>TCA	uc001qhd.1	-	2	912_913	c.306_307A>TGA	c.(304-309)aagaagfs	p.K102fs	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	102					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CTGACATTCTTCTTATGAACTA	0.411													CA	134086907	-	CA	134086906	7	5	101	1	0	1	1	0	0	0	0	0	10206	912	32	0	4322	0	NCAPD3	11	134086906	Frame_Shift_Ins	INS	-	TCGA-BR-8677-01A-11D-2394-08	9535561	134086906	919610	50	66283											
SLC6A13	6540	broad.mit.edu	37	chr12	333238	333238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccctccggttcttcttgcGgaacacgtgagggtacatgt	11	11	2	1			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr12:333238G>A	uc001qic.1	-	11	1284	c.1231C>T	c.(1231-1233)CGC>TGC	p.R411C	SLC6A13_uc009zdj.1_Missense_Mutation_p.R401C|SLC6A13_uc010sdl.1_Missense_Mutation_p.R319C	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	411					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TTCTTCTTGCGGAACACGTGA	0.572													A	333238	G	A	333238	3	1	101	1	0	0	0	0	1	0	0	0	14676	1116	39	1	597	1	SLC6A13	12	333238	Missense_Mutation	SNP	G	TCGA-BR-8677-01A-11D-2394-08		333238	133518657	51	66284											
FKBP3	2287	broad.mit.edu	37	chr14	45603647	45603647	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtccacgcccgctgtggaaCggccgccgccatcttccccc	11	20	1	0			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr14:45603647C>G	uc010tqf.1	-	1	86	c.13G>C	c.(13-15)GTT>CTT	p.V5L	FANCM_uc001wwc.2_5'Flank|FANCM_uc001wwd.3_5'Flank|FANCM_uc010anf.2_5'Flank	NM_002013	NP_002004	Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	5					protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity				0						CGCTGTGGAACGGCCGCCGCC	0.667													G	45603647	C	G	45603647	3	3	101	1	0	0	0	0	1	0	0	0	5909	536	19	5	689	5	FKBP3	14	45603647	Missense_Mutation	SNP	C	TCGA-BR-8677-01A-11D-2394-08		45603647	61745893	52	66285											
PNMA1	9240	broad.mit.edu	37	chr14	74179980	74179980	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggttctgaaacccaaggacAcgggcaacatcttgcacggt	12	11	2	1			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr14:74179980A>G	uc001xor.1	-	1	1149	c.363T>C	c.(361-363)CGT>CGC	p.R121R		NM_006029	NP_006020	Q8ND90	PNMA1_HUMAN	paraneoplastic antigen MA1	121					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		acccaaggacacgggcaacat	0													G	74179980	A	G	74179980	2	3	101	1	0	0	0	0	0	0	0	1	12153	146	6	3		3	PNMA1	14	74179980	Silent	SNP	A	TCGA-BR-8677-01A-11D-2394-08	28576333	74179980	33169560	53	66286											
RHBDF1	64285	broad.mit.edu	37	chr16	112868	112868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttcgacgctgtgcccggcGaaaggtgccatccctaacgg	13	14	0	0			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr16:112868G>A	uc002cfl.3	-	9	848	c.700C>T	c.(700-702)CGC>TGC	p.R234C	RHBDF1_uc010uty.1_Missense_Mutation_p.R257C|RHBDF1_uc010utz.1_Missense_Mutation_p.R234C|RHBDF1_uc010bqo.1_RNA	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	234	Cytoplasmic (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TGTGCCCGGCGAAAGGTGCCA	0.637													A	112868	G	A	112868	3	1	101	1	0	0	0	0	1	0	0	0	13319	1058	37	1	1919	1	RHBDF1	16	112868	Missense_Mutation	SNP	G	TCGA-BR-8677-01A-11D-2394-08		112868	90241885	54	66287											
ZSCAN10	84891	broad.mit.edu	37	chr16	3140332	3140332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcccagccgggtgcgagCgcagctggtgcgccttcagg	17	14	1	0			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr16:3140332C>T	uc002ctv.1	-	5	1026	c.938G>A	c.(937-939)CGC>CAC	p.R313H	ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Missense_Mutation_p.R231H|ZSCAN10_uc002ctx.1_Missense_Mutation_p.R241H	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	313	C2H2-type 1.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						CGGGTGCGAGCGCAGCTGGTG	0.667													T	3140332	C	T	3140332	3	4	101	1	0	0	0	0	1	0	0	0	18224	768	27	1	1243	1	ZSCAN10	16	3140332	Missense_Mutation	SNP	C	TCGA-BR-8677-01A-11D-2394-08	3027464	3140332	87214421	55	66288											
SALL1	6299	broad.mit.edu	37	chr16	51174200	51174200	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggggccgcagtctgccgctgGggagctcaggacgctactgc	17	13	2	0			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr16:51174200G>C	uc010vgs.1	-	2	1964	c.1933C>G	c.(1933-1935)CCA>GCA	p.P645A	SALL1_uc010vgr.1_Missense_Mutation_p.P548A|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	645					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCTGCCGCTGGGGAGCTCAGG	0.627													C	51174200	G	C	51174200	3	2	101	1	0	0	0	0	1	0	0	0	13810	1232	43	5	2049	5	SALL1	16	51174200	Missense_Mutation	SNP	G	TCGA-BR-8677-01A-11D-2394-08	48033868	51174200	39180553	56	66289											
CDH8	1006	broad.mit.edu	37	chr16	61687818	61687818	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaaatctggtttaatatcCttacggggtaaaaatccatt	7	7	1	0			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr16:61687818C>A	uc002eog.1	-	12	2346	c.2094G>T	c.(2092-2094)AAG>AAT	p.K698N		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	698	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GTTTAATATCCTTACGGGGTA	0.423													A	61687818	C	A	61687818	3	1	101	1	0	0	0	0	1	0	0	0	3116	680	24	5	309	5	CDH8	16	61687818	Missense_Mutation	SNP	C	TCGA-BR-8677-01A-11D-2394-08	10513618	61687818	28666935	57	66290											
CDH1	999	broad.mit.edu	37	chr16	68845701	68845703	+	In_Frame_Del	DEL	TGT	TGT	-													tgagctccctgacaaaaataTgttcaccattaacaggaaca							TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr16:68845700_68845702ATGT>A	uc002ewg.1	+	6	1070_1072	c.946_948ATGT>A	c.(946-948)atg>A	p.M316del	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_In_Frame_Del_p.M316del	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	316	Cadherin 2.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.N315S(3)|p.M316V(2)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGACAAAAATATGTTCACCATTA	0.542			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				-	68845703	TGT	-	68845701	7	5	101	1	0	1	0	1	0	0	0	0	3095	1464	51	0	973	0	CDH1	16	68845701	In_Frame_Del	DEL	TGT	TCGA-BR-8677-01A-11D-2394-08	7157883	68845701	21509052	58	66291											
MINK1	50488	broad.mit.edu	37	chr17	4794803	4794803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atatgcagcacctgtaccccGatcccagtccctgcaggacc	8	17	0	0			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr17:4794803G>A	uc010vsl.1	+	16	1989	c.1793G>A	c.(1792-1794)CGA>CAA	p.R598Q	MINK1_uc010vsk.1_Missense_Mutation_p.R598Q|MINK1_uc010vsm.1_Intron|MINK1_uc010vsn.1_Missense_Mutation_p.R598Q|MINK1_uc010vso.1_Missense_Mutation_p.R543Q|MINK1_uc010vsp.1_Missense_Mutation_p.R88Q	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	598					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						CCTGTACCCCGATCCCAGTCC	0.672													A	4794803	G	A	4794803	3	1	101	1	0	0	0	0	1	0	0	0	9587	1058	37	1	1594	1	MINK1	17	4794803	Missense_Mutation	SNP	G	TCGA-BR-8677-01A-11D-2394-08		4794803	76400407	59	66292											
GLP2R	9340	broad.mit.edu	37	chr17	9792816	9792816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagctctcggaaggagatGgcgctgagaagcttcggaag	16	7	1	3			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr17:9792816G>A	uc002gmd.1	+	13	1456	c.1456G>A	c.(1456-1458)GGC>AGC	p.G486S		NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	486	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				lung(2)|ovary(1)	3					Glucagon recombinant(DB00040)	GGAAGGAGATGGCGCTGAGAA	0.607													A	9792816	G	A	9792816	3	1	101	1	0	0	0	0	1	0	0	0	6453	1348	47	4	1506	4	GLP2R	17	9792816	Missense_Mutation	SNP	G	TCGA-BR-8677-01A-11D-2394-08	4998013	9792816	71402394	60	66293											
PTRF	284119	broad.mit.edu	37	chr17	40556837	40556837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcgccgccctcgtcgtcGtcggcgcccacctccaccat	9	22	0	0			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr17:40556837G>A	uc002hzo.2	-	2	1200	c.1041C>T	c.(1039-1041)GAC>GAT	p.D347D	PTRF_uc010wgi.1_Silent_p.D329D	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	347					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(1)	1		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CCTCGTCGTCGTCGGCGCCCA	0.706													A	40556837	G	A	40556837	2	1	101	1	0	0	0	0	0	0	0	1	12815	1136	40	1		1	PTRF	17	40556837	Silent	SNP	G	TCGA-BR-8677-01A-11D-2394-08	30764021	40556837	40638373	61	66294											
SKAP1	8631	broad.mit.edu	37	chr17	46262101	46262101	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacctcatagctgcgcctaTcctgggaggtcagttcaaag	10	12	3	0			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr17:46262101T>C	uc002ini.1	-	7	663	c.551A>G	c.(550-552)GAT>GGT	p.D184G	SKAP1_uc002inj.1_Missense_Mutation_p.D184G|SKAP1_uc010dbd.1_Missense_Mutation_p.D90G|SKAP1_uc010dbe.1_Missense_Mutation_p.D184G	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1 isoform	184	PH.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding				0						GCTGCGCCTATCCTGGGAGGT	0.522													C	46262101	T	C	46262101	3	2	101	1	0	0	0	0	1	0	0	0	14355	1435	50	3	552	3	SKAP1	17	46262101	Missense_Mutation	SNP	T	TCGA-BR-8677-01A-11D-2394-08	5705264	46262101	34933109	62	66295											
PRPSAP1	5635	broad.mit.edu	37	chr17	74309056	74309056	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctctctttcaggatctcCgcggcagcaacaaaactctc	6	16	5	0			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr17:74309056C>T	uc010wta.1	-	9	1340	c.894G>A	c.(892-894)GCG>GCA	p.A298A	PRPSAP1_uc010wtb.1_Silent_p.A195A	NM_002766	NP_002757	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate	269					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			ovary(1)	1						TCAGGATCTCCGCGGCAGCAA	0.522													T	74309056	C	T	74309056	2	4	101	1	0	0	0	0	0	0	0	1	12581	639	23	1		1	PRPSAP1	17	74309056	Silent	SNP	C	TCGA-BR-8677-01A-11D-2394-08	28046955	74309056	6886154	63	66296											
KIAA0802	23255	broad.mit.edu	37	chr18	8784659	8784659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgctggggaccatcaacGccaagatgaaggctttcaag	12	10	2	2			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr18:8784659G>A	uc002knr.2	+	6	1691	c.1549G>A	c.(1549-1551)GCC>ACC	p.A517T	KIAA0802_uc002knq.2_Missense_Mutation_p.A517T|KIAA0802_uc010dkw.1_Missense_Mutation_p.A355T	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	868											0						GACCATCAACGCCAAGATGAA	0.652													A	8784659	G	A	8784659	3	1	101	1	0	0	0	0	1	0	0	0	8194	1087	38	1	1563	1	KIAA0802	18	8784659	Missense_Mutation	SNP	G	TCGA-BR-8677-01A-11D-2394-08		8784659	69292589	64	66297											
NFIC	4782	broad.mit.edu	37	chr19	3452579	3452579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcccccacacggccatccGctacccacctcatctcaacc	3	23	2	0	rs140170107		TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr19:3452579G>A	uc010xhi.1	+	8	1246	c.1184G>A	c.(1183-1185)CGC>CAC	p.R395H	NFIC_uc002lxo.2_Missense_Mutation_p.R386H|NFIC_uc010xhh.1_Missense_Mutation_p.R386H|NFIC_uc002lxp.2_Missense_Mutation_p.R395H|NFIC_uc010xhj.1_Missense_Mutation_p.R395H	NM_205843	NP_995315	P08651	NFIC_HUMAN	nuclear factor I/C isoform 2	395					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		ACGGCCATCCGCTACCCACCT	0.662													A	3452579	G	A	3452579	3	1	101	1	0	0	0	0	1	0	0	0	10372	1087	38	1	1221	1	NFIC	19	3452579	Missense_Mutation	SNP	G	TCGA-BR-8677-01A-11D-2394-08		3452579	55676404	65	66298											
NPHS1	4868	broad.mit.edu	37	chr19	36322010	36322010	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agctgggggctgaagtccctCagggagcggtaatacggctc	16	10	1	1			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr19:36322010C>T	uc002oby.2	-	27	3426	c.3426G>A	c.(3424-3426)CTG>CTA	p.L1142L	NPHS1_uc010eem.1_RNA	NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	1142	Cytoplasmic (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGAAGTCCCTCAGGGAGCGGT	0.587													T	36322010	C	T	36322010	2	4	101	1	0	0	0	0	0	0	0	1	10582	813	29	4		4	NPHS1	19	36322010	Silent	SNP	C	TCGA-BR-8677-01A-11D-2394-08	32869431	36322010	22806973	66	66299											
PSG7	5676	broad.mit.edu	37	chr19	43433795	43433795	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcatctggagtctcaggatCacaggttaaaatcacagcct	9	10	4	0			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr19:43433795C>T	uc002ovl.3	-	4	610	c.508G>A	c.(508-510)GAT>AAT	p.D170N	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_5'Flank|PSG7_uc002out.1_5'UTR|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.D48N	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	170	Ig-like C2-type 1.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				GTCTCAGGATCACAGGTTAAA	0.527													T	43433795	C	T	43433795	3	4	101	1	0	0	0	0	1	0	0	0	12660	826	29	4	767	4	PSG7	19	43433795	Missense_Mutation	SNP	C	TCGA-BR-8677-01A-11D-2394-08	7111785	43433795	15695188	67	66300											
IRGQ	126298	broad.mit.edu	37	chr19	44097366	44097366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtcagccttgccagccacGgccaggtctagccgtgcgct	12	16	2	0			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr19:44097366G>A	uc002oww.2	-	2	802	c.684C>T	c.(682-684)GCC>GCT	p.A228A	IRGQ_uc010eiv.2_Silent_p.A228A	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	228							protein binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0199)				TGCCAGCCACGGCCAGGTCTA	0.687													A	44097366	G	A	44097366	2	1	101	1	0	0	0	0	0	0	0	1	7839	1103	39	1		1	IRGQ	19	44097366	Silent	SNP	G	TCGA-BR-8677-01A-11D-2394-08	663571	44097366	15031617	68	66301											
ZNF432	9668	broad.mit.edu	37	chr19	52538109	52538109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgatgttcaatcagacGgctcttcatagtgaagactt	9	9	4	4			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr19:52538109G>A	uc002pyk.2	-	5	1141	c.823C>T	c.(823-825)CGT>TGT	p.R275C		NM_014650	NP_055465	O94892	ZN432_HUMAN	zinc finger protein 432	275	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|pancreas(1)	3		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCAATCAGACGGCTCTTCATA	0.393													A	52538109	G	A	52538109	3	1	101	1	0	0	0	0	1	0	0	0	17903	1116	39	1	1139	1	ZNF432	19	52538109	Missense_Mutation	SNP	G	TCGA-BR-8677-01A-11D-2394-08	8440743	52538109	6590874	69	66302											
ZNF480	147657	broad.mit.edu	37	chr19	52817468	52817468	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcggagtggaaatgcctggaCcctgcacagagggctttata	14	9	0	1			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr19:52817468C>G	uc010ydl.1	+	3	205	c.135C>G	c.(133-135)GAC>GAG	p.D45E	ZNF480_uc002pyv.2_Intron|ZNF480_uc010ydm.1_Missense_Mutation_p.D45E|ZNF480_uc010epn.2_Intron|uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		AATGCCTGGACCCTGCACAGA	0.502													G	52817468	C	G	52817468	3	3	101	1	0	0	0	0	1	0	0	0	17932	506	18	5	141	5	ZNF480	19	52817468	Missense_Mutation	SNP	C	TCGA-BR-8677-01A-11D-2394-08	279359	52817468	6311515	70	66303											
ZNF468	90333	broad.mit.edu	37	chr19	53344459	53344459	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggttgatagtcgattaaaaActttgccacattcattacat	7	7	1	1			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr19:53344459A>G	uc002qaf.2	-	4	1239	c.1088T>C	c.(1087-1089)GTT>GCT	p.V363A	ZNF468_uc002qae.2_Missense_Mutation_p.V310A	NM_001008801	NP_001008801	Q5VIY5	ZN468_HUMAN	zinc finger protein ZNF468 isoform 2	363	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0358)		TCGATTAAAAACTTTGCCACA	0.378													G	53344459	A	G	53344459	3	3	101	1	0	0	0	0	1	0	0	0	17925	43	2	3	484	3	ZNF468	19	53344459	Missense_Mutation	SNP	A	TCGA-BR-8677-01A-11D-2394-08	526991	53344459	5784524	71	66304											
ZNF347	84671	broad.mit.edu	37	chr19	53644778	53644778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgaacaccaaaggctttgcCgcactcattacacttgtaag	7	12	1	0	rs146644074		TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr19:53644778C>T	uc002qbb.1	-	5	1372	c.1303G>A	c.(1303-1305)GGC>AGC	p.G435S	ZNF347_uc010eql.1_Missense_Mutation_p.G436S|ZNF347_uc002qbc.1_Missense_Mutation_p.G436S	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	435	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		AAGGCTTTGCCGCACTCATTA	0.428													T	53644778	C	T	53644778	3	4	101	1	0	0	0	0	1	0	0	0	17858	652	23	1	1220	1	ZNF347	19	53644778	Missense_Mutation	SNP	C	TCGA-BR-8677-01A-11D-2394-08	300319	53644778	5484205	72	66305											
ZNF470	388566	broad.mit.edu	37	chr19	57088331	57088331	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gatcactctaacaaatctggGacagtttttcatctgaatac	6	9	5	1			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr19:57088331G>T	uc002qnl.3	+	6	1210	c.534G>T	c.(532-534)GGG>GGT	p.G178G	ZNF470_uc010etn.2_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ACAAATCTGGGACAGTTTTTC	0.313													T	57088331	G	T	57088331	2	4	101	1	0	0	0	0	0	0	0	1	17926	1161	41	5		5	ZNF470	19	57088331	Silent	SNP	G	TCGA-BR-8677-01A-11D-2394-08	3443553	57088331	2040652	73	66306											
GTSE1	51512	broad.mit.edu	37	chr22	46725338	46725338	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcattgaccttcctctcatCgacttctgcgataccccaga	5	16	3	2			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr22:46725338C>T	uc011aqy.1	+	11	2222	c.2010C>T	c.(2008-2010)ATC>ATT	p.I670I	GTSE1_uc011aqz.1_Silent_p.I517I|GTSE1_uc003bhn.2_RNA|uc011ara.1_5'Flank|uc003bho.3_5'Flank	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	651					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TTCCTCTCATCGACTTCTGCG	0.502													T	46725338	C	T	46725338	2	4	101	1	0	0	0	0	0	0	0	1	6885	874	31	1		1	GTSE1	22	46725338	Silent	SNP	C	TCGA-BR-8677-01A-11D-2394-08		46725338	4579228	74	66307											
TUBGCP6	85378	broad.mit.edu	37	chr22	50664332	50664332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcaagggagaaaatcaccGagatccgggggacagggacg	15	10	2	2			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chr22:50664332G>A	uc003bkb.1	-	10	2386	c.1874C>T	c.(1873-1875)TCG>TTG	p.S625L	TUBGCP6_uc010har.1_Missense_Mutation_p.S625L|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_5'Flank|TUBGCP6_uc003bkd.1_5'UTR	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	625					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GAAAATCACCGAGATCCGGGG	0.597													A	50664332	G	A	50664332	3	1	101	1	0	0	0	0	1	0	0	0	16767	1059	37	1	3649	1	TUBGCP6	22	50664332	Missense_Mutation	SNP	G	TCGA-BR-8677-01A-11D-2394-08	3938994	50664332	640234	75	66308											
RBM3	5935	broad.mit.edu	37	chrX	48433596	48433596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagaaggaaagctcttcGtgggagggctcaactttaac	12	8	2	2			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chrX:48433596G>A	uc004dkf.1	+	2	167	c.28G>A	c.(28-30)GTG>ATG	p.V10M	RBM3_uc004dkd.1_RNA|RBM3_uc004dkg.2_Missense_Mutation_p.V10M	NM_006743	NP_006734	P98179	RBM3_HUMAN	RNA binding motif protein 3	10	RRM.				positive regulation of translation	dendrite|nucleus	nucleotide binding|RNA binding			ovary(1)	1						AAAGCTCTTCGTGGGAGGGCT	0.502											OREG0019765	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	48433596	G	A	48433596	3	1	101	1	0	0	0	0	1	0	0	0	13129	1145	40	1	30	1	RBM3	23	48433596	Missense_Mutation	SNP	G	TCGA-BR-8677-01A-11D-2394-08		48433596	106836964	76	66309											
CYSLTR1	10800	broad.mit.edu	37	chrX	77528391	77528391	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaagcaacaattggatgCagccagagacaaggttatga	11	7	1	2			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chrX:77528391C>A	uc004edb.2	-	3	1253	c.853G>T	c.(853-855)GCA>TCA	p.A285S	CYSLTR1_uc010nma.2_Missense_Mutation_p.A285S|CYSLTR1_uc010nmb.2_Missense_Mutation_p.A285S	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	285	Helical; Name=7; (Potential).				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			ovary(1)	1					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	CAATTGGATGCAGCCAGAGAC	0.418													A	77528391	C	A	77528391	3	1	101	1	0	0	0	0	1	0	0	0	4201	710	25	5	164	5	CYSLTR1	23	77528391	Missense_Mutation	SNP	C	TCGA-BR-8677-01A-11D-2394-08	29094795	77528391	77742169	77	66310											
ACTRT1	139741	broad.mit.edu	37	chrX	127185061	127185061	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcaaggatctttaaaaGcaccttctttgaaccacaga	6	11	3	2			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chrX:127185061G>T	uc004eum.2	-	1	1322	c.1125C>A	c.(1123-1125)TGC>TGA	p.C375*		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	375						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)|skin(1)	5						ATCTTTAAAAGCACCTTCTTT	0.463													T	127185061	G	T	127185061	4	4	101	1	0	0	0	0	0	1	0	0	218	963	34	5	9	5	ACTRT1	23	127185061	Nonsense_Mutation	SNP	G	TCGA-BR-8677-01A-11D-2394-08	49656670	127185061	28085499	78	66311											
SLITRK2	84631	broad.mit.edu	37	chrX	144906323	144906326	+	Frame_Shift_Del	DEL	AACC	AACC	-													cctatgaatctcgacgccaaAaccaagacagaatcaataaa							TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chrX:144906322_144906325AAACC>A	uc022cfn.1	+	0	2379_2382	c.2379_2382AAACC>A	c.(2377-2382)caaaacfs	p.Q793fs	SLITRK2_uc004fcd.3_Frame_Shift_Del_p.Q793fs|SLITRK2_uc010nsp.3_Frame_Shift_Del_p.Q793fs|SLITRK2_uc010nso.3_Frame_Shift_Del_p.Q793fs|SLITRK2_uc011mwq.2_Frame_Shift_Del_p.Q793fs|SLITRK2_uc011mwr.2_Frame_Shift_Del_p.Q793fs|SLITRK2_uc011mws.2_Frame_Shift_Del_p.Q793fs|SLITRK2_uc004fcg.3_Frame_Shift_Del_p.Q793fs|SLITRK2_uc011mwt.2_Frame_Shift_Del_p.Q793fs|CXorf1_uc004fch.3_5'Flank	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	793						integral to membrane		p.R792G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CTCGACGCCAAAACCAAGACAGAA	0.466													-	144906326	AACC	-	144906323	7	5	101	1	0	1	0	1	0	0	0	0	14743	14	1	0	2382	0	SLITRK2	23	144906323	Frame_Shift_Del	DEL	AACC	TCGA-BR-8677-01A-11D-2394-08	17721262	144906323	10364237	79	66312											
RAB39B	116442	broad.mit.edu	37	chrX	154493546	154493546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccccgatgacaatgagccGgaactggtacagccagatgg	12	11	0	3			TCGA-BR-8677-01A-11D-2394-08	TCGA-BR-8677-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4fb014-ac78-45f4-bf7d-6d3fb15af874	193fa960-f89a-404d-b0f4-a6c5743aed4c	g.chrX:154493546G>A	uc004fne.2	-	1	307	c.28C>T	c.(28-30)CGG>TGG	p.R10W		NM_171998	NP_741995	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	10					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACAATGAGCCGGAACTGGTAC	0.687													A	154493546	G	A	154493546	3	1	101	1	0	0	0	0	1	0	0	0	12930	1115	39	1	621	1	RAB39B	23	154493546	Missense_Mutation	SNP	G	TCGA-BR-8677-01A-11D-2394-08	9587223	154493546	777014	80	66313											
RHBG	57127	broad.mit.edu	37	chr1	156351656	156351656	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtggggacctcaagtgaaatGatgctgacaccctttggggc	14	9	1	3			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr1:156351656G>A	uc010pho.1	+	6	938	c.900G>A	c.(898-900)ATG>ATA	p.M300I	RHBG_uc010phm.1_Missense_Mutation_p.M138I|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_Missense_Mutation_p.M231I|RHBG_uc009wrz.2_Missense_Mutation_p.M268I|RHBG_uc001for.2_Missense_Mutation_p.M270I	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Rhesus blood group, B glycoprotein	300	Helical; (Potential).				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			ovary(2)	2	Hepatocellular(266;0.158)					CAAGTGAAATGATGCTGACAC	0.557													A	156351656	G	A	156351656	3	1	102	1	0	0	0	0	1	0	0	0	13324	1290	45	4	922	4	RHBG	1	156351656	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08		156351656	92898965	1	66314											
FCRL6	343413	broad.mit.edu	37	chr1	159779344	159779344	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agattgtggggaaccactcaGctccctgtggtggaaccacc	12	12	1	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr1:159779344G>T	uc001fud.3	+	5	799	c.757G>T	c.(757-759)GCT>TCT	p.A253S	FCRL6_uc001fuc.2_Missense_Mutation_p.A260S|FCRL6_uc009wsz.1_Missense_Mutation_p.A158S|FCRL6_uc009wta.2_Missense_Mutation_p.A253S	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6 precursor	253	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.0597)					GAACCACTCAGCTCCCTGTGG	0.567													T	159779344	G	T	159779344	3	4	102	1	0	0	0	0	1	0	0	0	5799	971	34	5	775	5	FCRL6	1	159779344	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	3427688	159779344	89471277	2	66315											
FAM5C	339479	broad.mit.edu	37	chr1	190067205	190067205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggcaatttggcattaaaCgcctgcagagcagattggat	11	7	0	2			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr1:190067205C>T	uc001gse.1	-	8	2476	c.2244G>A	c.(2242-2244)GCG>GCA	p.A748A	FAM5C_uc010pot.1_Silent_p.A646A	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	748						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					TGGCATTAAACGCCTGCAGAG	0.423													T	190067205	C	T	190067205	2	4	102	1	0	0	0	0	0	0	0	1	5594	523	19	1		1	FAM5C	1	190067205	Silent	SNP	C	TCGA-BR-8678-01A-11D-2394-08	30287861	190067205	59183416	3	66316											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220366601	220366601	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttccacatgcgtattgcAattcctctagctacatccaa	4	14	1	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr1:220366601A>G	uc010puk.1	-	13	1415	c.1251T>C	c.(1249-1251)ATT>ATC	p.I417I	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_5'UTR	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	417					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)		TGCGTATTGCAATTCCTCTAG	0.388													G	220366601	A	G	220366601	2	3	102	1	0	0	0	0	0	0	0	1	12936	126	5	3		3	RAB3GAP2	1	220366601	Silent	SNP	A	TCGA-BR-8678-01A-11D-2394-08	30299396	220366601	28884020	4	66317											
PRSS38	339501	broad.mit.edu	37	chr1	228003908	228003908	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtctgcggcggctccaTcctcaatgagtactgggtgc	12	14	2	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr1:228003908T>C	uc001hrh.2	+	2	266	c.266T>C	c.(265-267)ATC>ACC	p.I89T		NM_183062	NP_898885	A1L453	PRS38_HUMAN	marapsin 2 precursor	89	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)|pancreas(1)	2						GGCGGCTCCATCCTCAATGAG	0.667													C	228003908	T	C	228003908	3	2	102	1	0	0	0	0	1	0	0	0	12627	1435	50	3	272	3	PRSS38	1	228003908	Missense_Mutation	SNP	T	TCGA-BR-8678-01A-11D-2394-08	7637307	228003908	21246713	5	66318											
KIF26B	55083	broad.mit.edu	37	chr1	245849034	245849034	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggctgcagccggcaagtcaGaaagggactgcctgaagtgc	15	10	1	2			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr1:245849034G>T	uc001ibf.1	+	12	3189	c.2749G>T	c.(2749-2751)GAA>TAA	p.E917*	KIF26B_uc001ibg.1_Nonsense_Mutation_p.E535*|KIF26B_uc001ibh.1_Nonsense_Mutation_p.E159*	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	917					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CGGCAAGTCAGAAAGGGACTG	0.642													T	245849034	G	T	245849034	4	4	102	1	0	0	0	0	0	1	0	0	8295	943	33	5	2795	5	KIF26B	1	245849034	Nonsense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	17845126	245849034	3401587	6	66319											
OR2L8	391190	broad.mit.edu	37	chr1	248112270	248112285	+	Frame_Shift_Del	DEL	TCTAATTGGAAACCTG	TCTAATTGGAAACCTG	-													gttttcattttcctgatggcTctaattggaaacctgtccat							TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr1:248112269_248112284CTCTAATTGGAAACCTG>C	uc001idt.1	+	0	110_125	c.110_125CTCTAATTGGAAACCTG>C	c.(109-126)gctctaattggaaacctgfs	p.A37fs	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M36I(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTCCTGATGGCTCTAATTGGAAACCTGTCCATGATT	0.403													-	248112285	TCTAATTGGAAACCTG	-	248112270	7	5	102	1	0	1	0	1	0	0	0	0	11009	1538	54	0	113	0	OR2L8	1	248112270	Frame_Shift_Del	DEL	TCTAATTGGAAACCTG	TCGA-BR-8678-01A-11D-2394-08	2263236	248112270	1138351	7	66320											
SMC6	79677	broad.mit.edu	37	chr2	17847705	17847705	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acctcatgctttgaggtgtgAgcaagataaactgtctaaaa	9	7	2	3			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr2:17847705A>C	uc002rco.2	-	27	3439	c.3143T>G	c.(3142-3144)CTC>CGC	p.L1048R	SMC6_uc010exo.2_Missense_Mutation_p.L1048R|SMC6_uc002rcn.2_Missense_Mutation_p.L1048R	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	1048					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTGAGGTGTGAGCAAGATAAA	0.318													C	17847705	A	C	17847705	3	2	102	1	0	0	0	0	1	0	0	0	14787	304	11	5	140	5	SMC6	2	17847705	Missense_Mutation	SNP	A	TCGA-BR-8678-01A-11D-2394-08		17847705	225351668	8	66321											
TTC27	55622	broad.mit.edu	37	chr2	33007732	33007732	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgtcaacttcctatatcCgattaaaacaaaagtaagta	4	7	1	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr2:33007732C>T	uc002rom.2	+	15	2050	c.1819C>T	c.(1819-1821)CGA>TGA	p.R607*	TTC27_uc010ymx.1_Nonsense_Mutation_p.R557*|TTC27_uc002ron.2_RNA	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	607	TPR 5.|HAT 2.						protein binding			central_nervous_system(1)	1						TTCCTATATCCGATTAAAACA	0.289													T	33007732	C	T	33007732	4	4	102	1	0	0	0	0	0	1	0	0	16692	644	23	1	1877	1	TTC27	2	33007732	Nonsense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	15160027	33007732	210191641	9	66322											
SLC8A1	6546	broad.mit.edu	37	chr2	40366566	40366566	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgatgttccaagtgcgacGaacacgactgcagtcacaga	10	11	1	2			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr2:40366566G>A	uc002rrx.2	-	9	2544	c.2520C>T	c.(2518-2520)TTC>TTT	p.F840F	uc002rrw.2_Intron|SLC8A1_uc002rry.2_Silent_p.F835F|SLC8A1_uc002rrz.2_Silent_p.F827F|SLC8A1_uc002rsa.2_Silent_p.F804F|SLC8A1_uc002rsd.3_Silent_p.F804F	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	840	Helical; (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAAGTGCGACGAACACGACTG	0.463													A	40366566	G	A	40366566	2	1	102	1	0	0	0	0	0	0	0	1	14706	1049	37	1		1	SLC8A1	2	40366566	Silent	SNP	G	TCGA-BR-8678-01A-11D-2394-08	7358834	40366566	202832807	10	66323											
ALMS1	7840	broad.mit.edu	37	chr2	73677419	73677419	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taccaacaggtcttgccagaTaatcatccaactgaagaggc	8	11	2	3			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr2:73677419T>A	uc002sje.1	+	10	3879	c.3768T>A	c.(3766-3768)GAT>GAA	p.D1256E	ALMS1_uc002sjf.1_Missense_Mutation_p.D1212E|ALMS1_uc002sjg.2_Missense_Mutation_p.D642E|ALMS1_uc002sjh.1_Missense_Mutation_p.D642E	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1254	16.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						TCTTGCCAGATAATCATCCAA	0.473													A	73677419	T	A	73677419	3	1	102	1	0	0	0	0	1	0	0	0	535	1403	49	5	3792	5	ALMS1	2	73677419	Missense_Mutation	SNP	T	TCGA-BR-8678-01A-11D-2394-08	33310853	73677419	169521954	11	66324											
AFF3	3899	broad.mit.edu	37	chr2	100210469	100210469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgccacggccacggccgCgggcggggacttctgcttca	14	17	2	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr2:100210469C>T	uc002tag.2	-	14	1890	c.1654G>A	c.(1654-1656)GCG>ACG	p.A552T	AFF3_uc002taf.2_Missense_Mutation_p.A577T|AFF3_uc010fiq.1_Missense_Mutation_p.A552T|AFF3_uc010yvr.1_Missense_Mutation_p.A705T|AFF3_uc002tah.1_Missense_Mutation_p.A577T	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	552					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						GCCACGGCCGCGGGCGGGGAC	0.701													T	100210469	C	T	100210469	3	4	102	1	0	0	0	0	1	0	0	0	358	768	27	1	2070	1	AFF3	2	100210469	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	26533050	100210469	142988904	12	66325											
EDAR	10913	broad.mit.edu	37	chr2	109513576	109513576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcaggccgaagctctcGgcgaggtggcgccacgtttt	13	13	3	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr2:109513576G>A	uc002teq.3	-	12	1565	c.1134C>T	c.(1132-1134)GCC>GCT	p.A378A	EDAR_uc010fjn.2_Silent_p.A410A|EDAR_uc010yws.1_Silent_p.A410A	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	378	Death.|Cytoplasmic (Potential).				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1						CGAAGCTCTCGGCGAGGTGGC	0.572													A	109513576	G	A	109513576	2	1	102	1	0	0	0	0	0	0	0	1	4905	1103	39	1		1	EDAR	2	109513576	Silent	SNP	G	TCGA-BR-8678-01A-11D-2394-08	9303107	109513576	133685797	13	66326											
FBLN7	129804	broad.mit.edu	37	chr2	112942907	112942907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgtgagctacgtgaagaCgtctccattgtgagtatctc	10	9	2	4			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr2:112942907C>T	uc002tho.1	+	7	1209	c.938C>T	c.(937-939)ACG>ATG	p.T313M	FBLN7_uc002thn.2_Missense_Mutation_p.T313M|FBLN7_uc010fki.1_Missense_Mutation_p.T267M|FBLN7_uc010fkj.1_Missense_Mutation_p.T179M	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	fibulin 7 isoform 1	313	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			ovary(1)|central_nervous_system(1)	2						TACGTGAAGACGTCTCCATTG	0.602													T	112942907	C	T	112942907	3	4	102	1	0	0	0	0	1	0	0	0	5701	536	19	1	964	1	FBLN7	2	112942907	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	3429331	112942907	130256466	14	66327											
LRP1B	53353	broad.mit.edu	37	chr2	141031994	141031994	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagctgggtgtccacttactTgcaaaatatatcttcactgt	7	9	2	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr2:141031994T>C	uc002tvj.1	-	85	14113	c.13141A>G	c.(13141-13143)AAC>GAC	p.N4381D		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4381	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCACTTACTTGCAAAATATA	0.368										TSP Lung(27;0.18)			C	141031994	T	C	141031994	3	2	102	1	0	0	0	0	1	0	0	0	8955	1826	63	3	686	3	LRP1B	2	141031994	Missense_Mutation	SNP	T	TCGA-BR-8678-01A-11D-2394-08	28089087	141031994	102167379	15	66328											
LRP1B	53353	broad.mit.edu	37	chr2	141072650	141072650	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atcttcctccattttcacaaGttaacttacatgaatcatct	2	11	4	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr2:141072650G>C	uc002tvj.1	-	83	13631	c.12659C>G	c.(12658-12660)ACT>AGT	p.T4220S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4220	Extracellular (Potential).|EGF-like 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTTTCACAAGTTAACTTACA	0.313										TSP Lung(27;0.18)			C	141072650	G	C	141072650	3	2	102	1	0	0	0	0	1	0	0	0	8955	1029	36	5	1176	5	LRP1B	2	141072650	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	40656	141072650	102126723	16	66329											
LRP1B	53353	broad.mit.edu	37	chr2	141473650	141473650	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcaattaagttgaaaccaTgatctgtccaatatatgtta	5	7	2	2			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr2:141473650T>A	uc002tvj.1	-	37	6887	c.5915A>T	c.(5914-5916)CAT>CTT	p.H1972L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1972	Extracellular (Potential).|LDL-receptor class B 20.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTGAAACCATGATCTGTCCA	0.328										TSP Lung(27;0.18)			A	141473650	T	A	141473650	3	1	102	1	0	0	0	0	1	0	0	0	8955	1464	51	5	8104	5	LRP1B	2	141473650	Missense_Mutation	SNP	T	TCGA-BR-8678-01A-11D-2394-08	401000	141473650	101725723	17	66330											
LRP1B	53353	broad.mit.edu	37	chr2	141819648	141819648	+	Frame_Shift_Del	DEL	T	T	-													cttgaatgacagtgtgtctaTtttttccttgatagtccact							TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr2:141819648delT	uc002tvj.1	-	8	2180	c.1208delA	c.(1207-1209)AATfs	p.N403fs	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	403	Extracellular (Potential).|LDL-receptor class B 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTGTGTCTATTTTTTCCTTG	0.393										TSP Lung(27;0.18)			-	141819648	T	-	141819648	7	5	102	1	0	1	0	1	0	0	0	0	8955	1493	52	0	12927	0	LRP1B	2	141819648	Frame_Shift_Del	DEL	T	TCGA-BR-8678-01A-11D-2394-08	345998	141819648	101379725	18	66331											
NEB	4703	broad.mit.edu	37	chr2	152425193	152425193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactctgtcatccacaggcGtaaagttgagagtttctatt	8	9	3	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr2:152425193G>A	uc010fnx.2	-	83	12661	c.12470C>T	c.(12469-12471)ACG>ATG	p.T4157M	NEB_uc002txr.2_Missense_Mutation_p.T580M	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	4157	Nebulin 114.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATCCACAGGCGTAAAGTTGAG	0.373													A	152425193	G	A	152425193	3	1	102	1	0	0	0	0	1	0	0	0	10302	1145	40	1	8401	1	NEB	2	152425193	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	10605545	152425193	90774180	19	66332											
KBTBD10	10324	broad.mit.edu	37	chr2	170338792	170338792	+	Frame_Shift_Del	DEL	A	A	-													caagacctggagaagtccttAttgattgtttagattccatt							TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr2:170338791_170338791TA>T	uc010zdh.1	+	1	148	c.90_90TA>T	c.(88-90)cttfs	p.L30fs	KBTBD10_uc002uet.3_Frame_Shift_Del_p.L30fs|KBTBD10_uc010fpw.3_Frame_Shift_Del_p.L30fs	NM_152384	NP_689597	O60662	KBTBA_HUMAN	Homo sapiens Bardet-Biedl syndrome 5 (BBS5), mRNA.	0					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						GAGAAGTCCTTATTGATTGTT	0.303													-	170338792	A	-	170338792	7	5	102	1	0	1	0	1	0	0	0	0	7990	449	16	0		0	KBTBD10	2	170338792	Frame_Shift_Del	DEL	A	TCGA-BR-8678-01A-11D-2394-08	17913599	170338792	72860581	20	66333											
EVX2	344191	broad.mit.edu	37	chr2	176946938	176946938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgggcaggttgagtgccgCggccagctcgcaccggcggg	18	13	0	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr2:176946938C>T	uc010zeu.1	-	2	853	c.667G>A	c.(667-669)GCG>ACG	p.A223T		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	223	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TTGAGTGCCGCGGCCAGCTCG	0.627													T	176946938	C	T	176946938	3	4	102	1	0	0	0	0	1	0	0	0	5295	768	27	1	769	1	EVX2	2	176946938	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	6608146	176946938	66252435	21	66334											
TTN	7273	broad.mit.edu	37	chr2	179464329	179464329	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttcccagattatttaCagctgtgatggtatataagc	9	7	0	2			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr2:179464329C>A	uc010zfg.1	-	238	48819	c.48595G>T	c.(48595-48597)GTA>TTA	p.V16199L	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V9894L|TTN_uc010zfi.1_Missense_Mutation_p.V9827L|TTN_uc010zfj.1_Missense_Mutation_p.V9702L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17126							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGATTATTTACAGCTGTGATG	0.398													A	179464329	C	A	179464329	3	1	102	1	0	0	0	0	1	0	0	0	16732	478	17	5	51690	5	TTN	2	179464329	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	2517391	179464329	63735044	22	66335											
TTN	7273	broad.mit.edu	37	chr2	179647717	179647717	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccctgtaccatgtcactgtCggggatgggtatccagagat	12	10	1	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr2:179647717C>T	uc010zfg.1	-	18	3140	c.2916G>A	c.(2914-2916)CCG>CCA	p.P972P	TTN_uc010zfh.1_Silent_p.P926P|TTN_uc010zfi.1_Silent_p.P926P|TTN_uc010zfj.1_Silent_p.P926P|TTN_uc002unb.2_Silent_p.P972P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	972							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTCACTGTCGGGGATGGGT	0.433													T	179647717	C	T	179647717	2	4	102	1	0	0	0	0	0	0	0	1	16732	871	31	1		1	TTN	2	179647717	Silent	SNP	C	TCGA-BR-8678-01A-11D-2394-08	183388	179647717	63551656	23	66336											
SF3B1	23451	broad.mit.edu	37	chr2	198257729	198257729	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaacattctacatggtccAatagcaactctcaggccctc	6	14	2	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr2:198257729A>C	uc002uue.2	-	24	3771	c.3723T>G	c.(3721-3723)ATT>ATG	p.I1241M		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	1241					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TACATGGTCCAATAGCAACTC	0.313													C	198257729	A	C	198257729	3	2	102	1	0	0	0	0	1	0	0	0	14149	126	5	5	199	5	SF3B1	2	198257729	Missense_Mutation	SNP	A	TCGA-BR-8678-01A-11D-2394-08	18610012	198257729	44941644	24	66337											
CYP20A1	57404	broad.mit.edu	37	chr2	204111644	204111644	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atatcaatcccaataagacaTgtaagtttaattttctttct	3	7	3	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr2:204111644T>G	uc002uzv.3	+	3	911	c.289T>G	c.(289-291)TCG>GCG	p.S97A	CYP20A1_uc002uzx.3_Intron|CYP20A1_uc010zif.1_Missense_Mutation_p.S97A|CYP20A1_uc002uzy.3_Intron|CYP20A1_uc002uzw.3_RNA	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A,	97						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0						CAATAAGACATGTAAGTTTAA	0.318													G	204111644	T	G	204111644	3	3	102	1	0	0	0	0	1	0	0	0	4152	1478	51	5	299	5	CYP20A1	2	204111644	Missense_Mutation	SNP	T	TCGA-BR-8678-01A-11D-2394-08	5853915	204111644	39087729	25	66338											
FASTKD2	22868	broad.mit.edu	37	chr2	207655332	207655332	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttccagatctgcttattgTttgggttcaagccaccccag	9	11	2	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr2:207655332T>C	uc002vbu.2	+	11	2345	c.1935T>C	c.(1933-1935)TGT>TGC	p.C645C	FASTKD2_uc002vbv.2_Silent_p.C645C|FASTKD2_uc002vbx.2_Silent_p.C645C|FASTKD2_uc002vbw.1_3'UTR	NM_001136193	NP_001129665	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	645	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|skin(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		CTGCTTATTGTTTGGGTTCAA	0.363													C	207655332	T	C	207655332	2	2	102	1	0	0	0	0	0	0	0	1	5686	1731	60	3		3	FASTKD2	2	207655332	Silent	SNP	T	TCGA-BR-8678-01A-11D-2394-08	3543688	207655332	35544041	26	66339											
SPP2	6694	broad.mit.edu	37	chr2	234959729	234959729	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtttcgggcattcagaagctCattaaaaagagtaagtgcaa	10	6	2	2			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr2:234959729C>T	uc002vvk.1	+	2	285	c.200C>T	c.(199-201)TCA>TTA	p.S67L	SPP2_uc010fyl.1_Intron	NM_006944	NP_008875	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa precursor	67					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity				0		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		TTCAGAAGCTCATTAAAAAGA	0.418													T	234959729	C	T	234959729	3	4	102	1	0	0	0	0	1	0	0	0	15086	838	29	4	206	4	SPP2	2	234959729	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	27304397	234959729	8239644	27	66340											
RAD18	56852	broad.mit.edu	37	chr3	8932127	8932127	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaagatctcttatgatgtctGaactggaactaaaaggatat	8	5	2	3			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr3:8932127G>A	uc003brd.2	-	12	1408	c.1331C>T	c.(1330-1332)TCA>TTA	p.S444L	RAD18_uc003bre.2_RNA	NM_020165	NP_064550	Q9NS91	RAD18_HUMAN	postreplication repair protein hRAD18p	444					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			skin(3)|ovary(2)	5				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TATGATGTCTGAACTGGAACT	0.249								Rad6_pathway					A	8932127	G	A	8932127	3	1	102	1	0	0	0	0	1	0	0	0	12980	1294	45	4	164	4	RAD18	3	8932127	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08		8932127	189090303	28	66341											
SATB1	6304	broad.mit.edu	37	chr3	18456611	18456611	+	Frame_Shift_Del	DEL	G	G	-													tatgctaagtacctgtgaaaGggggcactccttggccaatg							TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr3:18456610_18456610AG>A	uc003cbh.3	-	4	2367	c.632_632CT>T	c.(631-633)cttfs	p.L211fs	SATB1_uc003cbi.3_Frame_Shift_Del_p.L211fs|SATB1_uc003cbj.3_Frame_Shift_Del_p.L211fs	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	211					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TACCTGTGAAAGGGGGCACTC	0.448													-	18456611	G	-	18456611	7	5	102	1	0	1	0	1	0	0	0	0	13853	1000	35	0	1688	0	SATB1	3	18456611	Frame_Shift_Del	DEL	G	TCGA-BR-8678-01A-11D-2394-08	9524484	18456611	179565819	29	66342											
SCN5A	6331	broad.mit.edu	37	chr3	38618180	38618180	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagcagtcctctgggtccttGacatcctggccgaggtcagg	13	12	2	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr3:38618180G>C	uc003cio.2	-	19	3677	c.3483C>G	c.(3481-3483)GTC>GTG	p.V1161V	SCN5A_uc003cin.2_Silent_p.V1160V|SCN5A_uc003cil.3_Silent_p.V1161V|SCN5A_uc010hhi.2_Silent_p.V1161V|SCN5A_uc010hhk.2_Silent_p.V1160V|SCN5A_uc011ayr.1_Silent_p.V1107V|SCN5A_uc010hhj.1_Silent_p.V771V	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1161					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTGGGTCCTTGACATCCTGGC	0.617													C	38618180	G	C	38618180	2	2	102	1	0	0	0	0	0	0	0	1	13922	1277	45	5		5	SCN5A	3	38618180	Silent	SNP	G	TCGA-BR-8678-01A-11D-2394-08	20161569	38618180	159404250	30	66343											
SCN10A	6336	broad.mit.edu	37	chr3	38748813	38748813	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcttcttggagcccaacTtcttcatggcattgtagtat	11	9	3	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr3:38748813T>G	uc003ciq.2	-	25	4343	c.4343A>C	c.(4342-4344)AAG>ACG	p.K1448T		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1448					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGAGCCCAACTTCTTCATGGC	0.532													G	38748813	T	G	38748813	3	3	102	1	0	0	0	0	1	0	0	0	13912	1609	56	5	1539	5	SCN10A	3	38748813	Missense_Mutation	SNP	T	TCGA-BR-8678-01A-11D-2394-08	130633	38748813	159273617	31	66344											
ULK4	54986	broad.mit.edu	37	chr3	41954327	41954327	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gagatcttcgacgcttgattCctgatctgctccagcaaaag	9	11	2	3			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr3:41954327C>A	uc003ckv.3	-	9	1069	c.868G>T	c.(868-870)GAA>TAA	p.E290*	ULK4_uc003ckw.2_Nonsense_Mutation_p.E290*|ULK4_uc003ckx.1_Nonsense_Mutation_p.E290*	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	290							ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		ACGCTTGATTCCTGATCTGCT	0.373													A	41954327	C	A	41954327	4	1	102	1	0	0	0	0	0	1	0	0	16975	864	30	5	3075	5	ULK4	3	41954327	Nonsense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	3205514	41954327	156068103	32	66345											
GOLGB1	2804	broad.mit.edu	37	chr3	121388080	121388080	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcagctcttgaacctgCttctccaagactgcacagtg	9	14	2	2			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr3:121388080C>A	uc003eei.3	-	18	9411	c.9285G>T	c.(9283-9285)AAG>AAT	p.K3095N	GOLGB1_uc010hrc.2_Missense_Mutation_p.K3100N|GOLGB1_uc003eej.3_Missense_Mutation_p.K3061N	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	3095	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		CTTGAACCTGCTTCTCCAAGA	0.473													A	121388080	C	A	121388080	3	1	102	1	0	0	0	0	1	0	0	0	6565	796	28	5	514	5	GOLGB1	3	121388080	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	79433753	121388080	76634350	33	66346											
GOLGB1	2804	broad.mit.edu	37	chr3	121413488	121413488	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttttaaggttcttcatttcaGattccaatagctcatttttt	4	7	4	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr3:121413488G>C	uc003eei.3	-	13	5993	c.5867C>G	c.(5866-5868)TCT>TGT	p.S1956C	GOLGB1_uc010hrc.2_Missense_Mutation_p.S1961C|GOLGB1_uc003eej.3_Missense_Mutation_p.S1922C|GOLGB1_uc011bjm.1_Missense_Mutation_p.S1842C|GOLGB1_uc010hrd.1_Missense_Mutation_p.S1920C	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	1956	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		CTTCATTTCAGATTCCAATAG	0.358													C	121413488	G	C	121413488	3	2	102	1	0	0	0	0	1	0	0	0	6565	942	33	5	3952	5	GOLGB1	3	121413488	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	25408	121413488	76608942	34	66347											
DNAJB8	165721	broad.mit.edu	37	chr3	128181963	128181963	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagcttgaacttcttctcCgcctcctccttattgtcagg	6	15	3	1	rs140270817		TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr3:128181963C>T	uc003ekk.1	-	3	1787	c.126G>A	c.(124-126)GCG>GCA	p.A42A	uc003ekl.1_5'Flank	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	DnaJ homolog, subfamily B, member 8	42	J.				protein folding		heat shock protein binding|unfolded protein binding				0				GBM - Glioblastoma multiforme(114;0.177)		ACTTCTTCTCCGCCTCCTCCT	0.592													T	128181963	C	T	128181963	2	4	102	1	0	0	0	0	0	0	0	1	4626	639	23	1		1	DNAJB8	3	128181963	Silent	SNP	C	TCGA-BR-8678-01A-11D-2394-08	6768475	128181963	69840467	35	66348											
NPHP3	27031	broad.mit.edu	37	chr3	132416142	132416142	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatgtctacagagtggcattCtgcaattataatagattttg	8	5	2	2			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr3:132416142C>A	uc003epe.1	-	14	2127	c.2050G>T	c.(2050-2052)GAA>TAA	p.E684*	NPHP3_uc003epd.1_5'UTR	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	684					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1						GAGTGGCATTCTGCAATTATA	0.303													A	132416142	C	A	132416142	4	1	102	1	0	0	0	0	0	1	0	0	10580	922	32	5	1998	5	NPHP3	3	132416142	Nonsense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	4234179	132416142	65606288	36	66349											
AFF1	4299	broad.mit.edu	37	chr4	88011158	88011169	+	In_Frame_Del	DEL	CTCCTTTGACAG	CTCCTTTGACAG	-													aatgacccattcatggccgcCtcctttgacagcaatacata							TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr4:88011157_88011168CCTCCTTTGACAG>C	uc011ccz.2	+	5	1401_1412	c.1126_1137CCTCCTTTGACAG>C	c.(1126-1137)cctcctttgaca>C	p.PPLT376del	AFF1_uc003hqh.2_In_Frame_Del_p.PPLT375del|AFF1_uc011ccy.2_Intron|AFF1_uc003hqj.4_In_Frame_Del_p.PPLT369del|AFF1_uc003hqk.4_In_Frame_Del_p.PPLT369del|AFF1_uc011cda.2_In_Frame_Del_p.PPLT7del	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	369						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TTCATGGCCGCCTCCTTTGACAGCAATACATA	0.377													-	88011169	CTCCTTTGACAG	-	88011158	7	5	102	1	0	1	0	1	0	0	0	0	356	681	24	0	1166	0	AFF1	4	88011158	In_Frame_Del	DEL	CTCCTTTGACAG	TCGA-BR-8678-01A-11D-2394-08		88011158	103143118	37	66350											
FBXW7	55294	broad.mit.edu	37	chr4	153250850	153250850	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgactgctgaccaaacttTtaaagtgttgtcatcagaac	8	8	2	3			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr4:153250850T>C	uc003ims.2	-	8	1359	c.1210A>G	c.(1210-1212)AAA>GAA	p.K404E	FBXW7_uc011cii.1_Missense_Mutation_p.K404E|FBXW7_uc003imt.2_Missense_Mutation_p.K404E|FBXW7_uc011cih.1_Missense_Mutation_p.K228E|FBXW7_uc003imq.2_Missense_Mutation_p.K324E|FBXW7_uc003imr.2_Missense_Mutation_p.K286E	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	404	WD 1.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GACCAAACTTTTAAAGTGTTG	0.363			Mis|N|D|F		colorectal|endometrial|T-ALL								C	153250850	T	C	153250850	3	2	102	1	0	0	0	0	1	0	0	0	5769	1850	64	3	933	3	FBXW7	4	153250850	Missense_Mutation	SNP	T	TCGA-BR-8678-01A-11D-2394-08	65239692	153250850	37903426	38	66351											
ZNF622	90441	broad.mit.edu	37	chr5	16465699	16465699	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	caggttgtagcggtgccagtCcgtcttatagtgggcccgct	14	11	1	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr5:16465699C>G	uc003jfq.2	-	1	196	c.76G>C	c.(76-78)GAC>CAC	p.D26H		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	zinc finger protein 622	26	U1-type 1.					cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						CGGTGCCAGTCCGTCTTATAG	0.667													G	16465699	C	G	16465699	3	3	102	1	0	0	0	0	1	0	0	0	18043	855	30	5	1381	5	ZNF622	5	16465699	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08		16465699	164449561	39	66352											
CHSY3	337876	broad.mit.edu	37	chr5	129520330	129520330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacagcactggatgataccGtcctacaggtgatggagatg	13	8	0	3	rs143055952	byFrequency	TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr5:129520330G>A	uc003kvd.2	+	3	1495	c.1495G>A	c.(1495-1497)GTC>ATC	p.V499I		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	499	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GGATGATACCGTCCTACAGGT	0.493													A	129520330	G	A	129520330	3	1	102	1	0	0	0	0	1	0	0	0	3413	1145	40	1	1505	1	CHSY3	5	129520330	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	113054631	129520330	51394930	40	66353											
PCDHB7	56129	broad.mit.edu	37	chr5	140554431	140554431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctcccagccctacctgcGgctcccggaggcggccccgg	12	20	1	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr5:140554431G>A	uc003lit.2	+	1	2189	c.2015G>A	c.(2014-2016)CGG>CAG	p.R672Q	PCDHB8_uc011dai.1_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	672	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTACCTGCGGCTCCCGGAG	0.692													A	140554431	G	A	140554431	3	1	102	1	0	0	0	0	1	0	0	0	11547	1116	39	1	2017	1	PCDHB7	5	140554431	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	11034101	140554431	40360829	41	66354											
NMUR2	56923	broad.mit.edu	37	chr5	151775064	151775064	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acacagcagccagggattcaCtccactcctccacaaagctg	7	16	1	0	rs4958535	byFrequency	TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr5:151775064C>G	uc003luv.2	-	3	1059	c.893G>C	c.(892-894)AGT>ACT	p.S298T		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	298	Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	p.S298I(1)		ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CAGGGATTCACTCCACTCCTC	0.463													G	151775064	C	G	151775064	3	3	102	1	0	0	0	0	1	0	0	0	10507	565	20	5	362	5	NMUR2	5	151775064	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	11220633	151775064	29140196	42	66355											
ADRA1B	147	broad.mit.edu	37	chr5	159344848	159344848	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgctggctacccttcttcatCgctctaccgcttggtaagtt	8	13	3	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr5:159344848C>A	uc003lxt.1	+	1	1109	c.936C>A	c.(934-936)ATC>ATA	p.I312I		NM_000679	NP_000670	P35368	ADA1B_HUMAN	alpha-1B-adrenergic receptor	312	Helical; Name=6; (By similarity).				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			lung(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	CCTTCTTCATCGCTCTACCGC	0.463													A	159344848	C	A	159344848	2	1	102	1	0	0	0	0	0	0	0	1	335	874	31	5		5	ADRA1B	5	159344848	Silent	SNP	C	TCGA-BR-8678-01A-11D-2394-08	7569784	159344848	21570412	43	66356											
PRPF4B	8899	broad.mit.edu	37	chr6	4032190	4032190	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgagtctggctctgaagaaGagggggaaattcatgaaaag	14	4	3	5			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr6:4032190G>T	uc003mvv.2	+	2	530	c.439G>T	c.(439-441)GAG>TAG	p.E147*	PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	147	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	p.F147L(2)		breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CTCTGAAGAAGAGGGGGAAAT	0.403													T	4032190	G	T	4032190	4	4	102	1	0	0	0	0	0	1	0	0	12573	943	33	5	445	5	PRPF4B	6	4032190	Nonsense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08		4032190	167082877	44	66357											
DSP	1832	broad.mit.edu	37	chr6	7565711	7565711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgctgtacgactggagCgacaagaacaccaacatcgc	11	12	0	1	rs121912992		TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr6:7565711C>T	uc003mxp.1	+	7	1176	c.897C>T	c.(895-897)AGC>AGT	p.S299S	DSP_uc003mxq.1_Silent_p.S299S	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	299	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		S -> R (in ARVD8).		cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACGACTGGAGCGACAAGAACA	0.547													T	7565711	C	T	7565711	2	4	102	1	0	0	0	0	0	0	0	1	4781	767	27	1		1	DSP	6	7565711	Silent	SNP	C	TCGA-BR-8678-01A-11D-2394-08	3533521	7565711	163549356	45	66358											
HIST1H2AB	8335	broad.mit.edu	37	chr6	26033708	26033708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcggagcaggcggtgcactCggcccacaggaaactgcaaa	14	12	0	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr6:26033708C>T	uc003nft.1	-	1	89	c.89G>A	c.(88-90)CGA>CAA	p.R30Q	HIST1H3B_uc003nfs.1_5'Flank	NM_003513	NP_003504	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	30					nucleosome assembly	nucleosome|nucleus	DNA binding				0						GCGGTGCACTCGGCCCACAGG	0.617													T	26033708	C	T	26033708	3	4	102	1	0	0	0	0	1	0	0	0	7129	884	31	1	307	1	HIST1H2AB	6	26033708	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	18467997	26033708	145081359	46	66359											
RGL2	5863	broad.mit.edu	37	chr6	33260908	33260908	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catatccagtccccccggagGcctcttctgcacccccactc	6	21	2	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr6:33260908G>T	uc003odv.2	-	16	2025	c.1892C>A	c.(1891-1893)GCC>GAC	p.A631D	RGL2_uc003odu.2_Missense_Mutation_p.A191D|RGL2_uc010jur.2_Missense_Mutation_p.A191D|RGL2_uc003odw.2_Missense_Mutation_p.A549D	NM_004761	NP_004752	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation	631					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			skin(3)|lung(1)|breast(1)|pancreas(1)	6						CCCCCCGGAGGCCTCTTCTGC	0.662													T	33260908	G	T	33260908	3	4	102	1	0	0	0	0	1	0	0	0	13277	1203	42	5	453	5	RGL2	6	33260908	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	7227200	33260908	137854159	47	66360											
KCTD20	222658	broad.mit.edu	37	chr6	36454780	36454780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggaagaagggaagagtcGccatgtggatttccagtgtg	15	5	0	2			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr6:36454780G>A	uc003ome.2	+	8	1479	c.1088G>A	c.(1087-1089)CGC>CAC	p.R363H	KCTD20_uc011dtm.1_Missense_Mutation_p.R218H|KCTD20_uc011dtn.1_Missense_Mutation_p.R117H|KCTD20_uc010jwk.2_Missense_Mutation_p.R197H|KCTD20_uc011dto.1_Missense_Mutation_p.R117H	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerisation domain	363						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)	2						GGGAAGAGTCGCCATGTGGAT	0.473													A	36454780	G	A	36454780	3	1	102	1	0	0	0	0	1	0	0	0	8108	1087	38	1	1114	1	KCTD20	6	36454780	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	3193872	36454780	134660287	48	66361											
USP49	25862	broad.mit.edu	37	chr6	41774587	41774587	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaatatagcggccgcaGgccacgtgggagcacttgag	13	12	1	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr6:41774587G>A	uc003ori.2	-	4	357	c.135C>T	c.(133-135)GCC>GCT	p.A45A		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	45	UBP-type.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGCGGCCGCAGGCCACGTGGG	0.597													A	41774587	G	A	41774587	2	1	102	1	0	0	0	0	0	0	0	1	17077	987	35	4		4	USP49	6	41774587	Silent	SNP	G	TCGA-BR-8678-01A-11D-2394-08	5319807	41774587	129340480	49	66362											
TFAP2D	83741	broad.mit.edu	37	chr6	50740473	50740473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactactcacaagaacggcGgagcggcggattctggccaa	12	12	2	1	rs143299031		TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr6:50740473G>A	uc003paf.2	+	8	1767	c.1255G>A	c.(1255-1257)GGA>AGA	p.G419R	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	419							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)					CAAGAACGGCGGAGCGGCGGA	0.502													A	50740473	G	A	50740473	3	1	102	1	0	0	0	0	1	0	0	0	15787	1117	39	1	1285	1	TFAP2D	6	50740473	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	8965886	50740473	120374594	50	66363											
GJB7	375519	broad.mit.edu	37	chr6	87994325	87994325	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtttctttctgtgccttttCtctctaccctcatgataggc	6	12	5	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr6:87994325C>A	uc003plo.2	-	3	652	c.306G>T	c.(304-306)GAG>GAT	p.E102D		NM_198568	NP_940970	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	102	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane					0		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		TGTGCCTTTTCTCTCTACCCT	0.443													A	87994325	C	A	87994325	3	1	102	1	0	0	0	0	1	0	0	0	6413	912	32	5	369	5	GJB7	6	87994325	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	37253852	87994325	83120742	51	66364											
DNAH11	8701	broad.mit.edu	37	chr7	21621622	21621622	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttctttaactgcaatggcTtagaagctgcatttaaggtt	8	7	1	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr7:21621622T>C	uc003svc.2	+	9	1724	c.1693T>C	c.(1693-1695)TTA>CTA	p.L565L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	565	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CTGCAATGGCTTAGAAGCTGC	0.348									Kartagener_syndrome				C	21621622	T	C	21621622	2	2	102	1	0	0	0	0	0	0	0	1	4599	1606	56	3		3	DNAH11	7	21621622	Silent	SNP	T	TCGA-BR-8678-01A-11D-2394-08		21621622	137517041	52	66365											
DNAH11	8701	broad.mit.edu	37	chr7	21654888	21654888	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggatgtcattatttatgttCgagtaagatgtgctttttca	10	4	2	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr7:21654888C>T	uc003svc.2	+	21	4040	c.4009C>T	c.(4009-4011)CGA>TGA	p.R1337*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1337	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TATTTATGTTCGAGTAAGATG	0.333									Kartagener_syndrome				T	21654888	C	T	21654888	4	4	102	1	0	0	0	0	0	1	0	0	4599	876	31	1	4091	1	DNAH11	7	21654888	Nonsense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	33266	21654888	137483775	53	66366											
NCF1	653361	broad.mit.edu	37	chr7	74193734	74193734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcgacttcttcaaggtgCgccctgatgacctcaagctc	8	15	3	2			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr7:74193734C>T	uc003ubb.2	+	4	431	c.361C>T	c.(361-363)CGC>TGC	p.R121C	NCF1_uc010lbs.1_Missense_Mutation_p.R121C|NCF1_uc011kfh.1_Intron	NM_000265	NP_000256	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	121	PX.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			skin(1)	1						CTTCAAGGTGCGCCCTGATGA	0.448													T	74193734	C	T	74193734	3	4	102	1	0	0	0	0	1	0	0	0	10216	768	27	1	375	1	NCF1	7	74193734	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	52538846	74193734	84944929	54	66367											
MUC17	140453	broad.mit.edu	37	chr7	100680453	100680453	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cggtagcagcatgccaacctCaactcctagggaaggaaggc	12	12	1	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr7:100680453C>T	uc003uxp.1	+	3	5809	c.5756C>T	c.(5755-5757)TCA>TTA	p.S1919L	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1919	Extracellular (Potential).|30.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					ATGCCAACCTCAACTCCTAGG	0.498													T	100680453	C	T	100680453	3	4	102	1	0	0	0	0	1	0	0	0	9974	838	29	4	5766	4	MUC17	7	100680453	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	26486719	100680453	58458210	55	66368											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519744	113519744	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagctcctccttcatgttttTtattaaggtttcctgccatt	5	10	1	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr7:113519744T>G	uc010ljy.1	-	4	1434	c.1403A>C	c.(1402-1404)AAA>ACA	p.K468T		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	468					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						TTCATGTTTTTTATTAAGGTT	0.393													G	113519744	T	G	113519744	3	3	102	1	0	0	0	0	1	0	0	0	12371	1841	64	5	1969	5	PPP1R3A	7	113519744	Missense_Mutation	SNP	T	TCGA-BR-8678-01A-11D-2394-08	12839291	113519744	45618919	56	66369											
NUP205	23165	broad.mit.edu	37	chr7	135291543	135291543	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaattcgtcatgaaacaAgaatccacatcttgaatctt	5	9	3	3			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr7:135291543A>G	uc003vsw.2	+	21	2981	c.2950A>G	c.(2950-2952)AGA>GGA	p.R984G		NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	984					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						TCATGAAACAAGAATCCACAT	0.363													G	135291543	A	G	135291543	3	3	102	1	0	0	0	0	1	0	0	0	10759	64	3	3	3032	3	NUP205	7	135291543	Missense_Mutation	SNP	A	TCGA-BR-8678-01A-11D-2394-08	21771799	135291543	23847120	57	66370											
TTC26	79989	broad.mit.edu	37	chr7	138824648	138824648	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatttcaggaatacgaaaatGctacaaaagaggaaaattgt	8	4	1	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr7:138824648G>T	uc003vus.2	+	4	361	c.247G>T	c.(247-249)GCT>TCT	p.A83S	TTC26_uc003vuq.2_Missense_Mutation_p.A83S|TTC26_uc011kqm.1_Missense_Mutation_p.A83S|TTC26_uc003vur.3_Missense_Mutation_p.A83S|TTC26_uc011kqn.1_Missense_Mutation_p.A83S|TTC26_uc011kqo.1_Missense_Mutation_p.A52S|TTC26_uc011kqp.1_5'UTR|TTC26_uc003vut.2_5'UTR|TTC26_uc011kqq.1_Missense_Mutation_p.A83S	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26 isoform 1	83	TPR 1.						binding			ovary(1)	1						ATACGAAAATGCTACAAAAGA	0.378													T	138824648	G	T	138824648	3	4	102	1	0	0	0	0	1	0	0	0	16691	1319	46	5	261	5	TTC26	7	138824648	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	3533105	138824648	20314015	58	66371											
KRBA1	84626	broad.mit.edu	37	chr7	149418620	149418620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtccagggaagtcctctcCccatcagtgagtctgacaca	11	13	3	2			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr7:149418620C>T	uc003wfz.2	+	5	859	c.460C>T	c.(460-462)CCC>TCC	p.P154S	KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_5'Flank	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	KRAB A domain containing 1	154										ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AAGTCCTCTCCCCATCAGTGA	0.612													T	149418620	C	T	149418620	3	4	102	1	0	0	0	0	1	0	0	0	8439	623	22	4	474	4	KRBA1	7	149418620	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	10593972	149418620	9720043	59	66372											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19277976	19277976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacatcaagtccctttcccCgagaaaattctccattcagc	4	15	3	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr8:19277976C>T	uc011kyn.1	-	7	2071	c.1007G>A	c.(1006-1008)CGG>CAG	p.R336Q	CSGALNACT1_uc011kyo.1_Missense_Mutation_p.R336Q|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.R335Q	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate	336	Lumenal (Potential).				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)		TCCCTTTCCCCGAGAAAATTC	0.473													T	19277976	C	T	19277976	3	4	102	1	0	0	0	0	1	0	0	0	3938	652	23	1	607	1	CSGALNACT1	8	19277976	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08		19277976	127086046	60	66373											
AGPAT6	137964	broad.mit.edu	37	chr8	41467367	41467367	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagaagaactggagtcctgGaacctgctgagcagaaccaa	12	10	0	4			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr8:41467367G>A	uc003xnz.2	+	4	1368	c.429G>A	c.(427-429)TGG>TGA	p.W143*		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	lysophosphatidic acid acyltransferase zeta	143					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity				0	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			TGGAGTCCTGGAACCTGCTGA	0.488													A	41467367	G	A	41467367	4	1	102	1	0	0	0	0	0	1	0	0	391	1183	41	4	439	4	AGPAT6	8	41467367	Nonsense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	22189391	41467367	104896655	61	66374											
LRRC67	286187	broad.mit.edu	37	chr8	67929969	67929969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggcaattagatccaagGtcagtcgaaccataatttct	7	9	3	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr8:67929969G>A	uc003xxc.2	-	2	159	c.14C>T	c.(13-15)ACC>ATC	p.T5I		NM_001013626	NP_001013648	Q7Z4L9	LRC67_HUMAN	leucine rich repeat containing 67	5											0						TAGATCCAAGGTCAGTCGAAC	0.343													A	67929969	G	A	67929969	3	1	102	1	0	0	0	0	1	0	0	0	9019	1261	44	4	692	4	LRRC67	8	67929969	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	26462602	67929969	78434053	62	66375											
CA2	760	broad.mit.edu	37	chr8	86386597	86386597	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatatggggattttgggaaAgctgtgcagcaacctgatgg	14	5	0	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr8:86386597A>G	uc003ydk.2	+	4	576	c.396A>G	c.(394-396)AAA>AAG	p.K132K		NM_000067	NP_000058	P00918	CAH2_HUMAN	carbonic anhydrase II	132					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(1)	1					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	ATTTTGGGAAAGCTGTGCAGC	0.403													G	86386597	A	G	86386597	2	3	102	1	0	0	0	0	0	0	0	1	2516	69	3	3		3	CA2	8	86386597	Silent	SNP	A	TCGA-BR-8678-01A-11D-2394-08	18456628	86386597	59977425	63	66376											
KDM4C	23081	broad.mit.edu	37	chr9	7128217	7128217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctcctttagcagagacaCatttcctgaggatatcgtgg	11	9	0	2			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr9:7128217C>T	uc003zkh.2	+	19	3342	c.2762C>T	c.(2761-2763)ACA>ATA	p.T921I	KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.T921I|KDM4C_uc011lmk.1_Missense_Mutation_p.T666I|KDM4C_uc011lml.1_Missense_Mutation_p.T608I	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	921	Tudor 1.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1						AGCAGAGACACATTTCCTGAG	0.433													T	7128217	C	T	7128217	3	4	102	1	0	0	0	0	1	0	0	0	8130	478	17	4	2924	4	KDM4C	9	7128217	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08		7128217	134085214	64	66377											
NPR2	4882	broad.mit.edu	37	chr9	35805937	35805937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctgcaggagatagcacttCgcagtggtcctttctacttg	10	11	1	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr9:35805937C>T	uc003zyd.2	+	14	2158	c.2158C>T	c.(2158-2160)CGC>TGC	p.R720C	NPR2_uc010mlb.2_Missense_Mutation_p.R696C	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	720	Protein kinase.|Cytoplasmic (Potential).				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			ovary(2)|stomach(1)	3	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GATAGCACTTCGCAGTGGTCC	0.552													T	35805937	C	T	35805937	3	4	102	1	0	0	0	0	1	0	0	0	10595	884	31	1	2212	1	NPR2	9	35805937	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	28677720	35805937	105407494	65	66378											
FLJ46321	389763	broad.mit.edu	37	chr9	84606105	84606105	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccatagaccattccccaccCcaacagcttccctttcccct	2	22	0	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr9:84606105C>A	uc004amn.2	+	4	767	c.720C>A	c.(718-720)CCC>CCA	p.P240P		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	240	Pro-rich.					integral to membrane					0						ATTCCCCACCCCAACAGCTTC	0.522													A	84606105	C	A	84606105	2	1	102	1	0	0	0	0	0	0	0	1	5932	610	22	5		5	FLJ46321	9	84606105	Silent	SNP	C	TCGA-BR-8678-01A-11D-2394-08	48800168	84606105	56607326	66	66379											
C9orf102	375748	broad.mit.edu	37	chr9	98691121	98691121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcaacagtacacaagatGttaacatttgccttgtctct	6	9	2	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr9:98691121G>A	uc004avt.3	+	11	2147	c.1759G>A	c.(1759-1761)GTT>ATT	p.V587I	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Missense_Mutation_p.V289I|C9orf102_uc010mry.1_Missense_Mutation_p.V289I|C9orf102_uc010mrz.2_Missense_Mutation_p.V398I|C9orf102_uc004avu.2_5'UTR	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	587	Helicase C-terminal.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				TACACAAGATGTTAACATTTG	0.308													A	98691121	G	A	98691121	3	1	102	1	0	0	0	0	1	0	0	0	2445	1377	48	4	1801	4	C9orf102	9	98691121	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	14085016	98691121	42522310	67	66380											
ZNF462	58499	broad.mit.edu	37	chr9	109689674	109689674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcaatgatgagaggggtcGaagggccccaaggctccccc	14	13	0	2			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr9:109689674G>A	uc004bcz.2	+	3	3770	c.3481G>A	c.(3481-3483)GAA>AAA	p.E1161K	ZNF462_uc010mto.2_Missense_Mutation_p.E1009K|ZNF462_uc004bda.2_Missense_Mutation_p.E1009K	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1161					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						GAGAGGGGTCGAAGGGCCCCA	0.552													A	109689674	G	A	109689674	3	1	102	1	0	0	0	0	1	0	0	0	17923	1059	37	1	3487	1	ZNF462	9	109689674	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	10998553	109689674	31523757	68	66381											
NELF	26012	broad.mit.edu	37	chr9	140347581	140347581	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcagtgtcccagtccAggtcctcgaaggcctcgtcc	9	17	1	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr9:140347581A>G	uc004cna.2	-	9	1206	c.974T>C	c.(973-975)CTG>CCG	p.L325P	C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_Missense_Mutation_p.L122P|NELF_uc010nci.2_Missense_Mutation_p.L69P|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Missense_Mutation_p.L302P|NELF_uc004cmz.2_Missense_Mutation_p.L323P|NELF_uc004cnc.2_Missense_Mutation_p.L300P|NELF_uc004cnb.2_Missense_Mutation_p.L295P	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	nasal embryonic LHRH factor isoform a	325						nucleus|plasma membrane					0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)		GTCCCAGTCCAGGTCCTCGAA	0.657													G	140347581	A	G	140347581	3	3	102	1	0	0	0	0	1	0	0	0	10332	188	7	3	650	3	NELF	9	140347581	Missense_Mutation	SNP	A	TCGA-BR-8678-01A-11D-2394-08	30657907	140347581	865850	69	66382											
LGI1	9211	broad.mit.edu	37	chr10	95557278	95557278	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaaatggggaggctcctcGttccaggatattcagaggat	13	7	1	2	rs148804268		TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr10:95557278G>A	uc001kjc.3	+	8	1728	c.1392G>A	c.(1390-1392)TCG>TCA	p.S464S	LGI1_uc010qnv.1_Silent_p.S416S|LGI1_uc001kjd.3_Intron|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_Intron	NM_005097	NP_005088	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1 precursor	464	EAR 6.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			ovary(2)|central_nervous_system(1)|skin(1)	4		Colorectal(252;0.124)				GAGGCTCCTCGTTCCAGGATA	0.438													A	95557278	G	A	95557278	2	1	102	1	0	0	0	0	0	0	0	1	8751	1132	40	1		1	LGI1	10	95557278	Silent	SNP	G	TCGA-BR-8678-01A-11D-2394-08		95557278	39977469	70	66383											
PKP3	11187	broad.mit.edu	37	chr11	397169	397169	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gcgccaggccagctccagctCcagccgggcaggggggctgg	18	15	0	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr11:397169C>G	uc001lpc.2	+	3	744	c.668C>G	c.(667-669)TCC>TGC	p.S223C		NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	plakophilin 3	223					cell adhesion	desmosome|nucleus	binding			skin(1)	1		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCTCCAGCTCCAGCCGGGCA	0.711													G	397169	C	G	397169	3	3	102	1	0	0	0	0	1	0	0	0	11986	855	30	5	678	5	PKP3	11	397169	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08		397169	134609347	71	66384											
OR52E4	390081	broad.mit.edu	37	chr11	5906083	5906083	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgagcacaggggtctggcCgggttggcctgtgcacccat	16	11	1	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr11:5906083C>T	uc010qzs.1	+	1	561	c.561C>T	c.(559-561)GCC>GCT	p.A187A	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGGTCTGGCCGGGTTGGCCT	0.443													T	5906083	C	T	5906083	2	4	102	1	0	0	0	0	0	0	0	1	11116	639	23	1		1	OR52E4	11	5906083	Silent	SNP	C	TCGA-BR-8678-01A-11D-2394-08	5508914	5906083	129100433	72	66385											
CTR9	9646	broad.mit.edu	37	chr11	10785357	10785357	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcttatcctaataattaCgaaactatgaaaattctcgg	5	7	1	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr11:10785357C>T	uc001mja.2	+	9	1274	c.1125C>T	c.(1123-1125)TAC>TAT	p.Y375Y		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	375					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CTAATAATTACGAAACTATGA	0.348													T	10785357	C	T	10785357	2	4	102	1	0	0	0	0	0	0	0	1	4024	547	19	1		1	CTR9	11	10785357	Silent	SNP	C	TCGA-BR-8678-01A-11D-2394-08	4879274	10785357	124221159	73	66386											
NAV2	89797	broad.mit.edu	37	chr11	20122686	20122686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgacagacggggttatcGccacctttaacgtggaccat	11	10	0	2			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr11:20122686G>A	uc001mpr.3	+	32	6755	c.6394G>A	c.(6394-6396)GCC>ACC	p.A2132T	NAV2_uc001mpp.2_Missense_Mutation_p.A2065T|NAV2_uc009yhx.2_Missense_Mutation_p.A1193T|NAV2_uc009yhz.2_Missense_Mutation_p.A774T|NAV2_uc001mpu.2_Missense_Mutation_p.A567T	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	2188						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						CGGGGTTATCGCCACCTTTAA	0.522													A	20122686	G	A	20122686	3	1	102	1	0	0	0	0	1	0	0	0	10184	1087	38	1	6629	1	NAV2	11	20122686	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	9337329	20122686	114883830	74	66387											
PRR5L	79899	broad.mit.edu	37	chr11	36467865	36467865	+	Frame_Shift_Del	DEL	A	A	-													tctagggccaggagctgactAtccgccagatctccctgctg							TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr11:36467865delA	uc001mwo.3	+	7	849	c.460delA	c.(460-462)ATCfs	p.I154fs	PRR5L_uc001mwp.2_Frame_Shift_Del_p.I154fs|PRR5L_uc009ykk.2_Intron|PRR5L_uc010rfc.1_Frame_Shift_Del_p.I154fs	NM_001160167	NP_001153639	Q6MZQ0	PRR5L_HUMAN	protor-2 isoform a	154										ovary(1)	1						GGAGCTGACTATCCGCCAGAT	0.597													-	36467865	A	-	36467865	7	5	102	1	0	1	0	1	0	0	0	0	12602	449	16	0	488	0	PRR5L	11	36467865	Frame_Shift_Del	DEL	A	TCGA-BR-8678-01A-11D-2394-08	16345179	36467865	98538651	75	66388											
OR5AS1	219447	broad.mit.edu	37	chr11	55798075	55798075	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttcaaattcccatgtatTattttcttagcaacttatct	3	10	3	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr11:55798075T>G	uc010riw.1	+	1	181	c.181T>G	c.(181-183)TAT>GAT	p.Y61D		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	61	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)|skin(1)	5	Esophageal squamous(21;0.00693)					TCCCATGTATTATTTTCTTAG	0.343													G	55798075	T	G	55798075	3	3	102	1	0	0	0	0	1	0	0	0	11146	1754	61	5	183	5	OR5AS1	11	55798075	Missense_Mutation	SNP	T	TCGA-BR-8678-01A-11D-2394-08	19330210	55798075	79208441	76	66389											
OR8I2	120586	broad.mit.edu	37	chr11	55861192	55861192	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactgtattcagtagtcatgTcccaaaaagtgtccaactgg	8	9	2	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr11:55861192T>C	uc010rix.1	+	1	409	c.409T>C	c.(409-411)TCC>CCC	p.S137P		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	137	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					AGTAGTCATGTCCCAAAAAGT	0.448													C	55861192	T	C	55861192	3	2	102	1	0	0	0	0	1	0	0	0	11240	1667	58	3	411	3	OR8I2	11	55861192	Missense_Mutation	SNP	T	TCGA-BR-8678-01A-11D-2394-08	63117	55861192	79145324	77	66390											
OR5R1	219479	broad.mit.edu	37	chr11	56185107	56185107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatatcaaagccagcaaagGcaaatatcagaatttccttc	5	10	3	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr11:56185107G>A	uc010rji.1	-	1	602	c.602C>T	c.(601-603)GCC>GTC	p.A201V		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	201	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GCCAGCAAAGGCAAATATCAG	0.438													A	56185107	G	A	56185107	3	1	102	1	0	0	0	0	1	0	0	0	11180	1203	42	2	374	2	OR5R1	11	56185107	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	323915	56185107	78821409	78	66391											
TMEM132A	54972	broad.mit.edu	37	chr11	60703766	60703768	+	In_Frame_Del	DEL	AGG	AGG	-													ggcagaggaggaggccaggaAggaggagaccgaagccaggg							TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr11:60703766_60703768delAGG	uc001nqj.2	+	11	2652_2654	c.2459_2461delAGG	c.(2458-2463)AAGGAG>AAG	p.E822del	TMEM132A_uc001nqi.2_In_Frame_Del_p.E823del|TMEM132A_uc001nqm.2_In_Frame_Del_p.E32del	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	822	Glu-rich.|Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						GAGGCCAGGAAGGAGGAGACCGA	0.537													-	60703768	AGG	-	60703766	7	5	102	1	0	1	0	1	0	0	0	0	16042	72	3	0	2504	0	TMEM132A	11	60703766	In_Frame_Del	DEL	AGG	TCGA-BR-8678-01A-11D-2394-08	4518659	60703766	74302750	79	66392											
ANO1	55107	broad.mit.edu	37	chr11	69934066	69934066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctgccgggcaagggggCgtcgctggatgcaggctcgg	18	14	0	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr11:69934066C>T	uc001opj.2	+	2	622	c.317C>T	c.(316-318)GCG>GTG	p.A106V	ANO1_uc001opk.1_Missense_Mutation_p.A78V|ANO1_uc001opl.1_RNA	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	106	Cytoplasmic (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						GGCAAGGGGGCGTCGCTGGAT	0.706													T	69934066	C	T	69934066	3	4	102	1	0	0	0	0	1	0	0	0	695	768	27	1	323	1	ANO1	11	69934066	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	9230300	69934066	65072450	80	66393											
ODZ4	26011	broad.mit.edu	37	chr11	78380911	78380911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatccagtacatgagcgagCggaagatctcatactgcact	9	11	2	2	rs144957611	by1000genomes	TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr11:78380911C>T	uc001ozl.3	-	32	6942	c.6479G>A	c.(6478-6480)CGC>CAC	p.R2160H	ODZ4_uc001ozk.3_Missense_Mutation_p.R385H|ODZ4_uc009yvb.1_Missense_Mutation_p.R744H	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2160	YD 16.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						CATGAGCGAGCGGAAGATCTC	0.488													T	78380911	C	T	78380911	3	4	102	1	0	0	0	0	1	0	0	0	10837	768	27	1	1842	1	ODZ4	11	78380911	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	8446845	78380911	56625605	81	66394											
FZD4	8322	broad.mit.edu	37	chr11	86663299	86663299	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttttgtgaggtaagggcaCctcttcatcacctggccctt	11	11	3	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr11:86663299C>A	uc001pce.2	-	2	805	c.499G>T	c.(499-501)GTG>TTG	p.V167L	PRSS23_uc001pcc.1_RNA	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	frizzled 4 precursor	167	Extracellular (Potential).				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGTAAGGGCACCTCTTCATCA	0.522													A	86663299	C	A	86663299	3	1	102	1	0	0	0	0	1	0	0	0	6132	507	18	5	1118	5	FZD4	11	86663299	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	8282388	86663299	48343217	82	66395											
APOA4	337	broad.mit.edu	37	chr11	116691970	116691970	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacgtcctcggccaagggCgccagcctctgccgcagctc	12	19	1	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr11:116691970C>T	uc001pps.1	-	3	908	c.804G>A	c.(802-804)GCG>GCA	p.A268A		NM_000482	NP_000473			apolipoprotein A-IV precursor												0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CGGCCAAGGGCGCCAGCCTCT	0.662													T	116691970	C	T	116691970	2	4	102	1	0	0	0	0	0	0	0	1	783	755	27	1		1	APOA4	11	116691970	Silent	SNP	C	TCGA-BR-8678-01A-11D-2394-08	30028671	116691970	18314546	83	66396											
HINFP	25988	broad.mit.edu	37	chr11	119002253	119002253	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccctggcacagaattccttCgacaatcctgagtggtttta	8	12	0	2			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr11:119002253C>T	uc001pvp.2	+	5	609	c.420C>T	c.(418-420)TTC>TTT	p.F140F	HINFP_uc001pvq.2_Silent_p.F140F|HINFP_uc001pvr.2_5'UTR	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN	MBD2 (methyl-CpG-binding protein)-interacting	140	C2H2-type 2.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						AGAATTCCTTCGACAATCCTG	0.542													T	119002253	C	T	119002253	2	4	102	1	0	0	0	0	0	0	0	1	7110	883	31	1		1	HINFP	11	119002253	Silent	SNP	C	TCGA-BR-8678-01A-11D-2394-08	2310283	119002253	16004263	84	66397											
PANX3	116337	broad.mit.edu	37	chr11	124487353	124487353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatccggcagaagagttccGacccctatgtgttctggaat	11	10	1	3			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr11:124487353G>A	uc001qah.2	+	3	508	c.508G>A	c.(508-510)GAC>AAC	p.D170N		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	pannexin 3	170	Cytoplasmic (Potential).				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		GAAGAGTTCCGACCCCTATGT	0.458													A	124487353	G	A	124487353	3	1	102	1	0	0	0	0	1	0	0	0	11422	1058	37	1	518	1	PANX3	11	124487353	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	5485100	124487353	10519163	85	66398											
CACNA2D4	93589	broad.mit.edu	37	chr12	1992145	1992145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctgggtgtccgccagcGttgagatctgcgtgtagtag	14	10	2	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr12:1992145G>A	uc001qjp.2	-	13	1604	c.1373C>T	c.(1372-1374)ACG>ATG	p.T458M	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.T346M	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	458	VWFA.|Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTCCGCCAGCGTTGAGATCTG	0.642													A	1992145	G	A	1992145	3	1	102	1	0	0	0	0	1	0	0	0	2551	1145	40	1	2144	1	CACNA2D4	12	1992145	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08		1992145	131859750	86	66399											
KCNA6	3742	broad.mit.edu	37	chr12	4919260	4919260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgggggaggtccgtgggcCggagggagagcaacaggatg	22	8	0	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr12:4919260C>T	uc001qng.2	+	1	919	c.53C>T	c.(52-54)CCG>CTG	p.P18L		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	18						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						GTCCGTGGGCCGGAGGGAGAG	0.706										HNSCC(72;0.22)			T	4919260	C	T	4919260	3	4	102	1	0	0	0	0	1	0	0	0	8007	652	23	1	55	1	KCNA6	12	4919260	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	2927115	4919260	128932635	87	66400											
PZP	5858	broad.mit.edu	37	chr12	9333627	9333627	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgagcagcacactttgGtccacagcacgaagggcaca	10	12	1	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr12:9333627G>T	uc001qvl.2	-	15	1820	c.1791C>A	c.(1789-1791)GAC>GAA	p.D597E	PZP_uc009zgl.2_Missense_Mutation_p.D466E	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						GCACACTTTGGTCCACAGCAC	0.587													T	9333627	G	T	9333627	3	4	102	1	0	0	0	0	1	0	0	0	12869	1252	44	5	2745	5	PZP	12	9333627	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	4414367	9333627	124518268	88	66401											
OVCH1	341350	broad.mit.edu	37	chr12	29649590	29649590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttttcatgttgaccatgcGaattccacacttcagtcctg	6	12	2	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr12:29649590G>A	uc001rix.1	-	2	82	c.82C>T	c.(82-84)CGC>TGC	p.R28C		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	28					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTGACCATGCGAATTCCACAC	0.428													A	29649590	G	A	29649590	3	1	102	1	0	0	0	0	1	0	0	0	11323	1058	37	1	3430	1	OVCH1	12	29649590	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	20315963	29649590	104202305	89	66402											
UBE3B	89910	broad.mit.edu	37	chr12	109921443	109921443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcttgtgcagaaggaacgGgagcgggcagctgttgtgat	18	6	0	2			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr12:109921443G>A	uc001top.2	+	3	690	c.87G>A	c.(85-87)CGG>CGA	p.R29R	UBE3B_uc001toq.2_Silent_p.R29R|UBE3B_uc001tol.1_Silent_p.R29R|UBE3B_uc001tom.2_Silent_p.R29R|UBE3B_uc001ton.2_Silent_p.R29R|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Silent_p.R29R|UBE3B_uc001tor.2_Silent_p.R29R	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	29	IQ.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						AGAAGGAACGGGAGCGGGCAG	0.542													A	109921443	G	A	109921443	2	1	102	1	0	0	0	0	0	0	0	1	16877	1219	43	4		4	UBE3B	12	109921443	Silent	SNP	G	TCGA-BR-8678-01A-11D-2394-08	80271853	109921443	23930452	90	66403											
C12orf51	283450	broad.mit.edu	37	chr12	112667572	112667572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtgcggcaacggcctggCgtgcaattctctgaagtttg	13	10	1	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr12:112667572C>T	uc009zwc.2	-	34	5201	c.5183G>A	c.(5182-5184)CGC>CAC	p.R1728H	C12orf51_uc001ttr.1_5'Flank	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						AACGGCCTGGCGTGCAATTCT	0.493													T	112667572	C	T	112667572	3	4	102	1	0	0	0	0	1	0	0	0	1696	768	27	1	6951	1	C12orf51	12	112667572	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	2746129	112667572	21184323	91	66404											
GOLGA3	2802	broad.mit.edu	37	chr12	133353343	133353343	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcccatttgagattttccatCtaaagaggggaaagtcacat	8	8	2	2			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr12:133353343C>G	uc001ukz.1	-	21	4415	c.3856_splice	c.e21-1	p.M1286_splice	GOLGA3_uc001ula.1_Splice_Site_p.M1286_splice	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3						intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GATTTTCCATCTAAAGAGGGG	0.438													G	133353343	C	G	133353343	5	3	102	1	0	0	0	0	0	0	1	0	6554	927	32	5	657	5	GOLGA3	12	133353343	Splice_Site	SNP	C	TCGA-BR-8678-01A-11D-2394-08	20685771	133353343	498552	92	66405											
DCLK1	9201	broad.mit.edu	37	chr13	36686248	36686248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccagtgaagacactgcccGagaagccgaggtggtcttga	15	10	1	4			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr13:36686248G>A	uc001uvf.2	-	3	714	c.481C>T	c.(481-483)CGG>TGG	p.R161W		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	161					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GACACTGCCCGAGAAGCCGAG	0.522													A	36686248	G	A	36686248	3	1	102	1	0	0	0	0	1	0	0	0	4291	1057	37	1	1772	1	DCLK1	13	36686248	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08		36686248	78483630	93	66406											
AKAP11	11215	broad.mit.edu	37	chr13	42873859	42873860	+	Frame_Shift_Ins	INS	-	-	A													ttggatgaagagggatatcaINSaaaaagcttaaaagcaaaac							TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr13:42873858_42873859C>CA	uc001uys.2	+	7	1151_1152	c.976_977C>CA	c.(976-978)caafs	p.Q326fs		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	326					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AGAGGGATATCAAAAAAGCTTA	0.337													A	42873860	-	A	42873859	7	5	102	1	0	1	1	0	0	0	0	0	447	130	5	0	999	0	AKAP11	13	42873859	Frame_Shift_Ins	INS	-	TCGA-BR-8678-01A-11D-2394-08	6187611	42873859	72296019	94	66407											
DLEU7	220107	broad.mit.edu	37	chr13	51417425	51417425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccaccacgcgggccagcgCgctgcgcatcgccatctggg	14	17	1	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr13:51417425C>T	uc001vez.2	-	1	461	c.358G>A	c.(358-360)GCG>ACG	p.A120T	DLEU7_uc001vex.2_Missense_Mutation_p.A120T|uc001vey.2_Intron	NM_198989	NP_945340	Q6UYE1	LEU7_HUMAN	deleted in lymphocytic leukemia, 7	120											0		Acute lymphoblastic leukemia(7;1.03e-07)|Lung NSC(96;0.000818)|Breast(56;0.00122)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.25e-08)		CGGGCCAGCGCGCTGCGCATC	0.706													T	51417425	C	T	51417425	3	4	102	1	0	0	0	0	1	0	0	0	4553	768	27	1	132	1	DLEU7	13	51417425	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	8543566	51417425	63752453	95	66408											
PCDH9	5101	broad.mit.edu	37	chr13	67799641	67799641	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agagcgtttagaaagggtgtCacaacccccaacaaaggtgt	11	9	1	2			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr13:67799641C>T	uc001vik.2	-	2	3624	c.2932G>A	c.(2932-2934)GAC>AAC	p.D978N	PCDH9_uc001vil.2_Missense_Mutation_p.D978N|PCDH9_uc010thl.1_Missense_Mutation_p.D978N|PCDH9_uc001vin.3_Missense_Mutation_p.D978N	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	978	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GAAAGGGTGTCACAACCCCCA	0.498													T	67799641	C	T	67799641	3	4	102	1	0	0	0	0	1	0	0	0	11518	826	29	4	797	4	PCDH9	13	67799641	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	16382216	67799641	47370237	96	66409											
RPL10L	140801	broad.mit.edu	37	chr14	47120719	47120719	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacaacttttcaccatgtatTtgttggcacaaatacgggcg	8	10	1	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr14:47120719T>A	uc001wwg.2	-	1	310	c.221A>T	c.(220-222)AAA>ATA	p.K74I		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	74					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						CACCATGTATTTGTTGGCACA	0.522													A	47120719	T	A	47120719	3	1	102	1	0	0	0	0	1	0	0	0	13556	1841	64	5	427	5	RPL10L	14	47120719	Missense_Mutation	SNP	T	TCGA-BR-8678-01A-11D-2394-08		47120719	60228821	97	66410											
SPRED1	161742	broad.mit.edu	37	chr15	38632001	38632001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttcagcaagagacagttGttaccagtgagccttataga	9	7	1	3			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr15:38632001G>A	uc001zka.3	+	5	822	c.487G>A	c.(487-489)GTT>ATT	p.V163I		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	163					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGAGACAGTTGTTACCAGTGA	0.423									Legius_syndrome				A	38632001	G	A	38632001	3	1	102	1	0	0	0	0	1	0	0	0	15091	1377	48	4	505	4	SPRED1	15	38632001	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08		38632001	63899391	98	66411											
SPTBN5	51332	broad.mit.edu	37	chr15	42154034	42154034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccagcacctggcgaatgtCggagctgaaggggtgccccg	16	12	0	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr15:42154034C>T	uc001zos.2	-	45	7864	c.7531G>A	c.(7531-7533)GAC>AAC	p.D2511N		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2546	Spectrin 22.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGGCGAATGTCGGAGCTGAAG	0.637													T	42154034	C	T	42154034	3	4	102	1	0	0	0	0	1	0	0	0	15121	884	31	1	3484	1	SPTBN5	15	42154034	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	3522033	42154034	60377358	99	66412											
ERCC4	2072	broad.mit.edu	37	chr16	14042001	14042001	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agtataatcctggtccccaaGacttcttgttaaaaatgcca	6	10	1	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr16:14042001G>C	uc002dce.2	+	11	2557	c.2548G>C	c.(2548-2550)GAC>CAC	p.D850H	ERCC4_uc010uyz.1_Missense_Mutation_p.D400H	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	850	Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			lung(4)|ovary(3)|skin(2)|pancreas(1)	10						TGGTCCCCAAGACTTCTTGTT	0.498			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				C	14042001	G	C	14042001	3	2	102	1	0	0	0	0	1	0	0	0	5215	942	33	5	2590	5	ERCC4	16	14042001	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08		14042001	76312752	100	66413											
COG7	91949	broad.mit.edu	37	chr16	23415150	23415150	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggttgtggttgcttgacccTttttcctaagacaagaaaat	9	7	0	3			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr16:23415150T>C	uc002dlo.2	-	13	1856	c.1668A>G	c.(1666-1668)AAA>AAG	p.K556K		NM_153603	NP_705831	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	556					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0				GBM - Glioblastoma multiforme(48;0.0401)		TGCTTGACCCTTTTTCCTAAG	0.507													C	23415150	T	C	23415150	2	2	102	1	0	0	0	0	0	0	0	1	3663	1606	56	3		3	COG7	16	23415150	Silent	SNP	T	TCGA-BR-8678-01A-11D-2394-08	9373149	23415150	66939603	101	66414											
TAOK2	9344	broad.mit.edu	37	chr16	29997928	29997928	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacagcagccctgctcacctGgccaggaggcagtcctggac	12	15	1	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr16:29997928G>T	uc002dva.1	+	16	3118	c.2335G>T	c.(2335-2337)GGC>TGC	p.G779C	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.G786C|TAOK2_uc002dvd.1_Missense_Mutation_p.G606C	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	779					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						CTGCTCACCTGGCCAGGAGGC	0.627													T	29997928	G	T	29997928	3	4	102	1	0	0	0	0	1	0	0	0	15545	1348	47	5	2393	5	TAOK2	16	29997928	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	6582778	29997928	60356825	102	66415											
GLG1	2734	broad.mit.edu	37	chr16	74530507	74530507	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctttcaccaggcctttctcCaagcatgataccacctcacc	4	17	4	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr16:74530507C>A	uc002fcy.3	-	5	860	c.810G>T	c.(808-810)TTG>TTT	p.L270F	GLG1_uc002fcx.2_Missense_Mutation_p.L270F|GLG1_uc002fcw.3_Missense_Mutation_p.L259F|GLG1_uc002fcz.3_Intron	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	270	Extracellular (Potential).|Cys-rich GLG1 3.					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2						GGCCTTTCTCCAAGCATGATA	0.403													A	74530507	C	A	74530507	3	1	102	1	0	0	0	0	1	0	0	0	6436	593	21	5	2897	5	GLG1	16	74530507	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	44532579	74530507	15824246	103	66416											
FAM92B	339145	broad.mit.edu	37	chr16	85141652	85141652	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcacccgtgtctgcttgatCtgtgccccgtagagcttcag	10	14	4	2			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr16:85141652C>A	uc010vok.1	-	3	465	c.309G>T	c.(307-309)CAG>CAT	p.Q103H		NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN	hypothetical protein LOC339145	103										central_nervous_system(1)	1						TCTGCTTGATCTGTGCCCCGT	0.647													A	85141652	C	A	85141652	3	1	102	1	0	0	0	0	1	0	0	0	5653	912	32	5	629	5	FAM92B	16	85141652	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	10611145	85141652	5213101	104	66417											
NEURL4	84461	broad.mit.edu	37	chr17	7230973	7230973	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caatcccgcccattcacccaGagccgaagctccccagcaac	6	20	1	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr17:7230973G>A	uc002gga.1	-	2	520	c.513C>T	c.(511-513)CTC>CTT	p.L171L	NEURL4_uc002ggb.1_Silent_p.L171L|NEURL4_uc002ggc.1_5'Flank	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	171	NHR 1.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						CATTCACCCAGAGCCGAAGCT	0.642													A	7230973	G	A	7230973	2	1	102	1	0	0	0	0	0	0	0	1	10347	929	33	4		4	NEURL4	17	7230973	Silent	SNP	G	TCGA-BR-8678-01A-11D-2394-08		7230973	73964237	105	66418											
TP53	7157	broad.mit.edu	37	chr17	7579406	7579406	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tctgggaagggacagaagatGacaggggccaggagggggct	20	6	1	3			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr17:7579406G>C	uc002gim.2	-	4	475	c.281C>G	c.(280-282)TCA>TGA	p.S94*	TP53_uc002gig.1_Nonsense_Mutation_p.S94*|TP53_uc002gih.2_Nonsense_Mutation_p.S94*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.S94*|TP53_uc010cni.1_Nonsense_Mutation_p.S94*|TP53_uc002gij.2_Nonsense_Mutation_p.S94*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.S55*|TP53_uc010cnk.1_Nonsense_Mutation_p.S109*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	94	Interaction with WWOX.		S -> L (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.S94*(3)|p.G59fs*23(3)|p.S94T(2)|p.V73fs*9(1)|p.S94fs*29(1)|p.S94fs*54(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GACAGAAGATGACAGGGGCCA	0.627		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C	7579406	G	C	7579406	4	2	102	1	0	0	0	0	0	1	0	0	16378	1294	45	5	1021	5	TP53	17	7579406	Nonsense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	348433	7579406	73615804	106	66419											
SMCHD1	23347	broad.mit.edu	37	chr18	2760681	2760681	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctaataaagtggggacaTattgtatccagtttggtttt	9	5	0	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr18:2760681T>C	uc002klm.3	+	35	4567	c.4378T>C	c.(4378-4380)TAT>CAT	p.Y1460H	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	1460					chromosome organization		ATP binding				0						AGTGGGGACATATTGTATCCA	0.299													C	2760681	T	C	2760681	3	2	102	1	0	0	0	0	1	0	0	0	14788	1406	49	3	4516	3	SMCHD1	18	2760681	Missense_Mutation	SNP	T	TCGA-BR-8678-01A-11D-2394-08		2760681	75316567	107	66420											
NETO1	81832	broad.mit.edu	37	chr18	70526277	70526277	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcaatagagtacttttcatCaaagtaaagttcaatgcact	5	7	4	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr18:70526277C>G	uc002lkw.2	-	4	537	c.253G>C	c.(253-255)GAT>CAT	p.D85H	NETO1_uc002lkx.1_Missense_Mutation_p.D84H|NETO1_uc002lky.1_Missense_Mutation_p.D85H|NETO1_uc002lkz.2_Missense_Mutation_p.D84H	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	85	CUB 1.|Extracellular (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TACTTTTCATCAAAGTAAAGT	0.383													G	70526277	C	G	70526277	3	3	102	1	0	0	0	0	1	0	0	0	10339	826	29	5	1385	5	NETO1	18	70526277	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	67765596	70526277	7550971	108	66421											
SCAF1	58506	broad.mit.edu	37	chr19	50156862	50156862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgactcgggggcggaggaCgggccagcttcccgtgtctc	18	12	1	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr19:50156862C>T	uc002poq.2	+	7	3340	c.3216C>T	c.(3214-3216)GAC>GAT	p.D1072D		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1072					mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGGCGGAGGACGGGCCAGCTT	0.711													T	50156862	C	T	50156862	2	4	102	1	0	0	0	0	0	0	0	1	13868	535	19	1		1	SCAF1	19	50156862	Silent	SNP	C	TCGA-BR-8678-01A-11D-2394-08		50156862	8972121	109	66422											
BCL2L12	83596	broad.mit.edu	37	chr19	50172124	50172124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcccagctactccagaCttctatgctttggtggccca	9	15	1	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr19:50172124C>T	uc002ppa.2	+	4	1201	c.519C>T	c.(517-519)GAC>GAT	p.D173D	IRF3_uc002pou.2_5'Flank|IRF3_uc002pov.2_5'Flank|IRF3_uc002pow.2_5'Flank|BCL2L12_uc002ppb.2_Silent_p.D172D	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	BCL2-like 12 isoform 1	173					apoptosis					central_nervous_system(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CTACTCCAGACTTCTATGCTT	0.557													T	50172124	C	T	50172124	2	4	102	1	0	0	0	0	0	0	0	1	1370	564	20	4		4	BCL2L12	19	50172124	Silent	SNP	C	TCGA-BR-8678-01A-11D-2394-08	15262	50172124	8956859	110	66423											
U2AF2	11338	broad.mit.edu	37	chr19	56172483	56172483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaccccaacgccggtgccCgtggtcgggagccagatgac	15	14	0	3			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr19:56172483C>T	uc002qlu.2	+	5	1469	c.414C>T	c.(412-414)CCC>CCT	p.P138P	U2AF2_uc002qlt.2_Silent_p.P138P	NM_007279	NP_009210	P26368	U2AF2_HUMAN	U2 (RNU2) small nuclear RNA auxiliary factor 2	138					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CGCCGGTGCCCGTGGTCGGGA	0.537													T	56172483	C	T	56172483	2	4	102	1	0	0	0	0	0	0	0	1	16820	639	23	1		1	U2AF2	19	56172483	Silent	SNP	C	TCGA-BR-8678-01A-11D-2394-08	6000359	56172483	2956500	111	66424											
DUXA	503835	broad.mit.edu	37	chr19	57666682	57666682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcttcttgttctaaggacGccacaggttccctttttctc	7	13	4	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr19:57666682G>A	uc002qoa.1	-	5	542	c.497C>T	c.(496-498)GCG>GTG	p.A166V		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	double homeobox A	166						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		TTCTAAGGACGCCACAGGTTC	0.428													A	57666682	G	A	57666682	3	1	102	1	0	0	0	0	1	0	0	0	4834	1087	38	1	125	1	DUXA	19	57666682	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	1494199	57666682	1462301	112	66425											
C20orf26	26074	broad.mit.edu	37	chr20	20243679	20243679	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcagtcagcggcggtacaCggggaaagttccttgcaacc	13	12	1	0	rs145071038	by1000genomes	TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr20:20243679C>A	uc002wru.2	+	21	2484	c.2408C>A	c.(2407-2409)ACG>AAG	p.T803K	C20orf26_uc010zse.1_Missense_Mutation_p.T783K|C20orf26_uc002wrw.2_RNA|C20orf26_uc002wrv.2_Missense_Mutation_p.T159K	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	803										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		CGGCGGTACACGGGGAAAGTT	0.478													A	20243679	C	A	20243679	3	1	102	1	0	0	0	0	1	0	0	0	2106	536	19	5	2518	5	C20orf26	20	20243679	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08		20243679	42781841	113	66426											
CD93	22918	broad.mit.edu	37	chr20	23064978	23064978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcattctggggcttcttctCcttcttctcctccctcttcg	6	17	6	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr20:23064978C>T	uc002wsv.2	-	1	2000	c.1852G>A	c.(1852-1854)GAG>AAG	p.E618K		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	618	Cytoplasmic (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCTTCTTCTCCTTCTTCTCC	0.597													T	23064978	C	T	23064978	3	4	102	1	0	0	0	0	1	0	0	0	3047	864	30	4	114	4	CD93	20	23064978	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	2821299	23064978	39960542	114	66427											
TP53TG5	27296	broad.mit.edu	37	chr20	44003774	44003774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggaggatctgcacatcaCcctgggcgccgggaggtgga	18	10	2	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr20:44003774C>T	uc002xny.2	-	4	754	c.673G>A	c.(673-675)GTG>ATG	p.V225M	SYS1_uc002xnw.1_3'UTR|SYS1-DBNDD2_uc002xnx.2_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	TP53-target gene 5 protein	225					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)	1						CTGCACATCACCCTGGGCGCC	0.597													T	44003774	C	T	44003774	3	4	102	1	0	0	0	0	1	0	0	0	16388	507	18	4	207	4	TP53TG5	20	44003774	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08	20938796	44003774	19021746	115	66428											
PARD6B	84612	broad.mit.edu	37	chr20	49366625	49366625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgatgattgcaaatagccGtaacctcatcataacagtga	7	9	2	3			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr20:49366625G>A	uc002xvo.2	+	3	962	c.719G>A	c.(718-720)CGT>CAT	p.R240H		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	PAR-6 beta	240	PDZ.|Interaction with PARD3 and CDC42 (By similarity).				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			kidney(1)	1						GCAAATAGCCGTAACCTCATC	0.423													A	49366625	G	A	49366625	3	1	102	1	0	0	0	0	1	0	0	0	11446	1145	40	1	729	1	PARD6B	20	49366625	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	5362851	49366625	13658895	116	66429											
RAE1	8480	broad.mit.edu	37	chr20	55942112	55942112	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgatggttttgcaactccctGaaaggtgttactgtgctgac	11	8	0	3			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr20:55942112G>A	uc002xyg.2	+	7	852	c.511G>A	c.(511-513)GAA>AAA	p.E171K	RAE1_uc010gis.1_Missense_Mutation_p.E124K|RAE1_uc010git.1_Missense_Mutation_p.E171K|RAE1_uc002xyh.2_Missense_Mutation_p.E171K|RAE1_uc002xyi.2_Missense_Mutation_p.E171K	NM_003610	NP_003601	P78406	RAE1L_HUMAN	RAE1 (RNA export 1, S.pombe) homolog	171	WD 3.				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding				0	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			GCAACTCCCTGAAAGGTGTTA	0.378													A	55942112	G	A	55942112	3	1	102	1	0	0	0	0	1	0	0	0	12998	1291	45	4	533	4	RAE1	20	55942112	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	6575487	55942112	7083408	117	66430											
NCAM2	4685	broad.mit.edu	37	chr21	22881188	22881188	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taagacacgctgtttaatggTcttgggcttggagcagtaat	12	6	1	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr21:22881188T>A	uc002yld.1	+	16	2343	c.2094T>A	c.(2092-2094)GGT>GGA	p.G698G	NCAM2_uc011acb.1_Silent_p.G556G	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	698	Helical; (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGTTTAATGGTCTTGGGCTTG	0.323													A	22881188	T	A	22881188	2	1	102	1	0	0	0	0	0	0	0	1	10203	1654	58	5		5	NCAM2	21	22881188	Silent	SNP	T	TCGA-BR-8678-01A-11D-2394-08		22881188	25248707	118	66431											
RNF160	26046	broad.mit.edu	37	chr21	30357128	30357128	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgtaagtatcacactgaGccattagccaatatcccatt	7	10	1	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr21:30357128G>C	uc002ymr.2	-	4	612	c.599C>G	c.(598-600)GCT>GGT	p.A200G	RNF160_uc010gll.1_RNA	NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	154							ligase activity|zinc ion binding				0						ATCACACTGAGCCATTAGCCA	0.413													C	30357128	G	C	30357128	3	2	102	1	0	0	0	0	1	0	0	0	13455	971	34	5	4947	5	RNF160	21	30357128	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	7475940	30357128	17772767	119	66432											
CCT8L2	150160	broad.mit.edu	37	chr22	17073169	17073169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggtttgtcctgcttccCggaggagccatgctgctggg	15	12	0	0			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr22:17073169C>T	uc002zlp.1	-	1	532	c.272G>A	c.(271-273)CGG>CAG	p.R91Q		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	91					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCCTGCTTCCCGGAGGAGCCA	0.602													T	17073169	C	T	17073169	3	4	102	1	0	0	0	0	1	0	0	0	2961	652	23	1	1405	1	CCT8L2	22	17073169	Missense_Mutation	SNP	C	TCGA-BR-8678-01A-11D-2394-08		17073169	34231397	120	66433											
GSTT2	2953	broad.mit.edu	37	chr22	24323151	24323151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcagggcagcacaagaGcaaggagttcttgcagatca	11	10	4	2			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr22:24323151G>A	uc002zzb.3	+	2	200	c.125G>A	c.(124-126)AGC>AAC	p.S42N	DDT_uc002zza.3_5'Flank|GSTT2_uc002zzc.3_Missense_Mutation_p.S42N	NM_000854	NP_000845	P0CG30	GSTT2_HUMAN	glutathione S-transferase theta 2	42	GST N-terminal.					cytoplasm	glutathione transferase activity				0						CAGCACAAGAGCAAGGAGTTC	0.552													A	24323151	G	A	24323151	3	1	102	1	0	0	0	0	1	0	0	0	6846	971	34	2	886	2	GSTT2	22	24323151	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	7249982	24323151	26981415	121	66434											
MEI1	150365	broad.mit.edu	37	chr22	42191783	42191783	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccacagcatggcccagacCctgcaggcctccttggaggg	13	15	0	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chr22:42191783C>A	uc003baz.1	+	30	3736	c.3711C>A	c.(3709-3711)ACC>ACA	p.T1237T	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Silent_p.T623T|MEI1_uc003bbc.1_Silent_p.T605T|MEI1_uc010gym.1_Silent_p.T570T|MEI1_uc003bbd.1_Silent_p.T450T|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA|MEI1_uc003bbf.2_Silent_p.T251T|MEI1_uc003bbg.2_Silent_p.T207T	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	1237							binding			central_nervous_system(1)|skin(1)	2						TGGCCCAGACCCTGCAGGCCT	0.607													A	42191783	C	A	42191783	2	1	102	1	0	0	0	0	0	0	0	1	9465	610	22	5		5	MEI1	22	42191783	Silent	SNP	C	TCGA-BR-8678-01A-11D-2394-08	17868632	42191783	9112783	122	66435											
ZNF645	158506	broad.mit.edu	37	chrX	22291239	22291239	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggggggacattaagataaAcatcataggtgaaaaggatg	13	3	1	2			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chrX:22291239A>C	uc004dai.1	+	1	180	c.131A>C	c.(130-132)AAC>ACC	p.N44T		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	44						intracellular	zinc ion binding			lung(1)|pancreas(1)	2						ATTAAGATAAACATCATAGGT	0.348													C	22291239	A	C	22291239	3	2	102	1	0	0	0	0	1	0	0	0	18058	43	2	5	133	5	ZNF645	23	22291239	Missense_Mutation	SNP	A	TCGA-BR-8678-01A-11D-2394-08		22291239	132979321	123	66436											
USP9X	8239	broad.mit.edu	37	chrX	41069826	41069826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaattttttaattcattgGtggatagtttagatgaagct	9	2	1	3			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chrX:41069826G>A	uc004dfb.2	+	33	5713	c.5080G>A	c.(5080-5082)GTG>ATG	p.V1694M	USP9X_uc004dfc.2_Missense_Mutation_p.V1694M	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1694					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						TAATTCATTGGTGGATAGTTT	0.373													A	41069826	G	A	41069826	3	1	102	1	0	0	0	0	1	0	0	0	17087	1261	44	4	5206	4	USP9X	23	41069826	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	18778587	41069826	114200734	124	66437											
TBX22	50945	broad.mit.edu	37	chrX	79286562	79286562	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagtttcttttggagaaggCaaatgtaatcatgttcattg	9	5	3	1			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chrX:79286562C>A	uc010nmg.1	+	9	1649	c.1515C>A	c.(1513-1515)GGC>GGA	p.G505G	TBX22_uc004edi.1_Silent_p.G385G|TBX22_uc004edj.1_Silent_p.G505G	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	505					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						TTGGAGAAGGCAAATGTAATC	0.313													A	79286562	C	A	79286562	2	1	102	1	0	0	0	0	0	0	0	1	15655	697	25	5		5	TBX22	23	79286562	Silent	SNP	C	TCGA-BR-8678-01A-11D-2394-08	38216736	79286562	75983998	125	66438											
PABPC5	140886	broad.mit.edu	37	chrX	90691445	90691445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgaggcggagatttgaacGgctgaggttaaaagaaaaaa	14	3	0	5			TCGA-BR-8678-01A-11D-2394-08	TCGA-BR-8678-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ab9742-cef4-48d6-af97-cbab33a0bb8f	69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3	g.chrX:90691445G>A	uc004efg.2	+	2	1309	c.869G>A	c.(868-870)CGG>CAG	p.R290Q	PABPC5_uc004eff.1_Missense_Mutation_p.R126Q	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	290						cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3						AGATTTGAACGGCTGAGGTTA	0.443													A	90691445	G	A	90691445	3	1	102	1	0	0	0	0	1	0	0	0	11367	1116	39	1	871	1	PABPC5	23	90691445	Missense_Mutation	SNP	G	TCGA-BR-8678-01A-11D-2394-08	11404883	90691445	64579115	126	66439											
ERRFI1	54206	broad.mit.edu	37	chr1	8074343	8074343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaacttgatcctcttcatGtggtcccaagttttcacttg	6	11	3	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:8074343G>A	uc001aoz.2	-	4	565	c.316C>T	c.(316-318)CAT>TAT	p.H106Y	ERRFI1_uc001apa.1_Missense_Mutation_p.H31Y	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	mitogen-inducible gene 6 protein	106					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			ovary(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TCCTCTTCATGTGGTCCCAAG	0.473													A	8074343	G	A	8074343	3	1	103	1	0	0	0	0	1	0	0	0	5244	1377	48	4	1076	4	ERRFI1	1	8074343	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08		8074343	241176278	1	66440											
EXOSC10	5394	broad.mit.edu	37	chr1	11140947	11140947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcaaggtaggactcatccGtgaagataggtttgatgaat	12	5	2	4			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:11140947G>A	uc001asa.2	-	12	1510	c.1460C>T	c.(1459-1461)ACG>ATG	p.T487M	EXOSC10_uc001asb.2_Missense_Mutation_p.T487M|EXOSC10_uc009vmy.1_Missense_Mutation_p.T487M	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	exosome component 10 isoform 1	487					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			upper_aerodigestive_tract(1)	1	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GGACTCATCCGTGAAGATAGG	0.418													A	11140947	G	A	11140947	3	1	103	1	0	0	0	0	1	0	0	0	5314	1145	40	1	1253	1	EXOSC10	1	11140947	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	3066604	11140947	238109674	2	66441											
AADACL4	343066	broad.mit.edu	37	chr1	12726597	12726597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcttgctctataagaagCgcttggaggaccagggggtc	14	9	1	1	rs149313289		TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:12726597C>T	uc001auf.2	+	4	1075	c.1075C>T	c.(1075-1077)CGC>TGC	p.R359C		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	359	Lumenal (Potential).					integral to membrane	carboxylesterase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CTATAAGAAGCGCTTGGAGGA	0.498													T	12726597	C	T	12726597	3	4	103	1	0	0	0	0	1	0	0	0	13	768	27	1	1089	1	AADACL4	1	12726597	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	1585650	12726597	236524024	3	66442											
CELA2A	63036	broad.mit.edu	37	chr1	15794033	15794033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatcgactggatcaattcGgtaagaaccggaccagccct	9	12	1	1	rs141124454	byFrequency	TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:15794033G>A	uc001awk.2	+	7	818	c.792G>A	c.(790-792)TCG>TCA	p.S264S		NM_033440	NP_254275	P08217	CEL2A_HUMAN	elastase 2A preproprotein	264	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						GGATCAATTCGGTAAGAACCG	0.602													A	15794033	G	A	15794033	2	1	103	1	0	0	0	0	0	0	0	1	3211	1130	39	1		1	CELA2A	1	15794033	Silent	SNP	G	TCGA-BR-8679-01A-11D-2394-08	3067436	15794033	233456588	4	66443											
OTUD3	23252	broad.mit.edu	37	chr1	20234063	20234063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatggccttctctctcagGtcacaaacaaacagaggcga	8	13	3	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:20234063G>A	uc001bcs.3	+	8	1140	c.1021G>A	c.(1021-1023)GTC>ATC	p.V341I		NM_015207	NP_056022	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	341											0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCTCTCAGGTCACAAACAA	0.567													A	20234063	G	A	20234063	3	1	103	1	0	0	0	0	1	0	0	0	11313	1275	44	4	1051	4	OTUD3	1	20234063	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	4440030	20234063	229016558	5	66444											
BAI2	576	broad.mit.edu	37	chr1	32196483	32196483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctggctcgggcacttggCgggcgctgggtgtcggcggt	19	13	0	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:32196483C>T	uc001btn.2	-	29	4652	c.4298G>A	c.(4297-4299)CGC>CAC	p.R1433H	BAI2_uc001btm.2_Missense_Mutation_p.R427H|BAI2_uc001btp.1_Missense_Mutation_p.R427H|BAI2_uc010ogn.1_Missense_Mutation_p.R403H|BAI2_uc010ogo.1_Missense_Mutation_p.R1042H|BAI2_uc010ogp.1_Missense_Mutation_p.R1366H|BAI2_uc010ogq.1_Missense_Mutation_p.R1400H|BAI2_uc001bto.2_Missense_Mutation_p.R1433H	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1433	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGGCACTTGGCGGGCGCTGGG	0.672													T	32196483	C	T	32196483	3	4	103	1	0	0	0	0	1	0	0	0	1299	768	27	1	479	1	BAI2	1	32196483	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	11962420	32196483	217054138	6	66445											
PIK3R3	8503	broad.mit.edu	37	chr1	46509408	46509410	+	In_Frame_Del	DEL	GTT	GTT	-													agcctgacgttgagggagtcGttgtgctgaaccaaggatgt							TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:46509407_46509409CGTT>C	uc010olw.2	-	9	1477_1479	c.1460_1462AACG>G	c.(1459-1464)aacgac>aGac	p.487_488ND>R	PIK3R3_uc001cpb.4_In_Frame_Del_p.441_442ND>R|PIK3R3_uc009vyb.3_In_Frame_Del_p.382_383ND>R|PIK3R3_uc009vyc.3_In_Frame_Del_p.458_459ND>R|PIK3R3_uc001cpc.4_In_Frame_Del_p.441_442ND>R|PIK3R3_uc010olv.2_In_Frame_Del_p.231_232ND>R	NM_003629	NP_003620	Q92569	P55G_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 3 (gamma) (PIK3R3), transcript variant 1, mRNA.	441					T cell costimulation|insulin receptor signaling pathway|platelet activation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					TTGAGGGAGTCGTTGTGCTGAAC	0.527													-	46509410	GTT	-	46509408	7	5	103	1	0	1	0	1	0	0	0	0	11920	1136	40	0	66	0	PIK3R3	1	46509408	In_Frame_Del	DEL	GTT	TCGA-BR-8679-01A-11D-2394-08	14312925	46509408	202741213	7	66446											
GBP6	163351	broad.mit.edu	37	chr1	89845996	89845996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccagggagtgcatcaggcGtttctttccaaaacggaagt	11	10	2	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:89845996G>A	uc001dnf.2	+	6	951	c.677G>A	c.(676-678)CGT>CAT	p.R226H	GBP6_uc010ost.1_Missense_Mutation_p.R96H	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	226							GTP binding|GTPase activity			ovary(2)	2		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TGCATCAGGCGTTTCTTTCCA	0.413													A	89845996	G	A	89845996	3	1	103	1	0	0	0	0	1	0	0	0	6278	1145	40	1	695	1	GBP6	1	89845996	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	43336588	89845996	159404625	8	66447											
TCHHL1	126637	broad.mit.edu	37	chr1	152059398	152059398	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgccaagtttccttcctGttctccaaactggtctctta	7	12	2	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:152059398G>A	uc001ezo.1	-	3	825	c.760C>T	c.(760-762)CAG>TAG	p.Q254*		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	254							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTTCCTTCCTGTTCTCCAAAC	0.443													A	152059398	G	A	152059398	4	1	103	1	0	0	0	0	0	1	0	0	15698	1386	48	4	1958	4	TCHHL1	1	152059398	Nonsense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	62213402	152059398	97191223	9	66448											
OR6K3	391114	broad.mit.edu	37	chr1	158687131	158687131	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ataagtgtcgctgaaacgcaAgtacatgagtgatacactgc	10	8	0	3			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:158687131A>T	uc010pip.1	-	1	823	c.823T>A	c.(823-825)TTG>ATG	p.L275M		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	275	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					CTGAAACGCAAGTACATGAGT	0.463													T	158687131	A	T	158687131	3	4	103	1	0	0	0	0	1	0	0	0	11203	69	3	5	174	5	OR6K3	1	158687131	Missense_Mutation	SNP	A	TCGA-BR-8679-01A-11D-2394-08	6627733	158687131	90563490	10	66449											
OR6N2	81442	broad.mit.edu	37	chr1	158746588	158746588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgaccattggtgttagtaCggagtaaactatagcaagtg	11	5	0	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:158746588C>T	uc010pir.1	-	1	838	c.838G>A	c.(838-840)GTA>ATA	p.V280I		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	280	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)					GGTGTTAGTACGGAGTAAACT	0.423													T	158746588	C	T	158746588	3	4	103	1	0	0	0	0	1	0	0	0	11207	536	19	1	118	1	OR6N2	1	158746588	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	59457	158746588	90504033	11	66450			1	30		3	3	676	N	G_C_A	7.250985e-06
OR6N2	81442	broad.mit.edu	37	chr1	158746952	158746952	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggaggcaaggatgacctcAgaaatgggacacaggaagcc	15	8	1	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:158746952A>G	uc010pir.1	-	1	474	c.474T>C	c.(472-474)TCT>TCC	p.S158S		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)					GGATGACCTCAGAAATGGGAC	0.498													G	158746952	A	G	158746952	2	3	103	1	0	0	0	0	0	0	0	1	11207	175	7	3		3	OR6N2	1	158746952	Silent	SNP	A	TCGA-BR-8679-01A-11D-2394-08	364	158746952	90503669	12	66451			1	30		3	3	676	N	G_C_A	7.250985e-06
OR6N2	81442	broad.mit.edu	37	chr1	158747263	158747263	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtggtacataggtgtgtgcaGagctgcatccagtcggatga	15	7	0	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:158747263G>A	uc010pir.1	-	1	163	c.163C>T	c.(163-165)CTG>TTG	p.L55L		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	55	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)					GGTGTGTGCAGAGCTGCATCC	0.458													A	158747263	G	A	158747263	2	1	103	1	0	0	0	0	0	0	0	1	11207	933	33	4		4	OR6N2	1	158747263	Silent	SNP	G	TCGA-BR-8679-01A-11D-2394-08	311	158747263	90503358	13	66452			1	30		3	3	676	N	G_C_A	7.250985e-06
B3GALT2	8707	broad.mit.edu	37	chr1	193149667	193149667	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaagacagatccctacataTacatcttccaagtgcaaacg	6	12	1	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:193149667T>C	uc001gtc.3	-	2	1741	c.1026A>G	c.(1024-1026)GTA>GTG	p.V342V	CDC73_uc001gtb.2_Intron	NM_003783	NP_003774	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta	342	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)	1						TCCCTACATATACATCTTCCA	0.413													C	193149667	T	C	193149667	2	2	103	1	0	0	0	0	0	0	0	1	1248	1393	49	3		3	B3GALT2	1	193149667	Silent	SNP	T	TCGA-BR-8679-01A-11D-2394-08	34402404	193149667	56100954	14	66453											
FMN2	56776	broad.mit.edu	37	chr1	240555839	240555839	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccaagaggcagaggaaaaTtcactgacagagactcataa	10	8	2	4			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:240555839T>G	uc010pyd.1	+	15	5112	c.4887T>G	c.(4885-4887)AAT>AAG	p.N1629K	FMN2_uc010pye.1_Missense_Mutation_p.N1633K|FMN2_uc010pyf.1_Missense_Mutation_p.N244K|FMN2_uc010pyg.1_Missense_Mutation_p.N225K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1629	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGAGGAAAATTCACTGACAG	0.338													G	240555839	T	G	240555839	3	3	103	1	0	0	0	0	1	0	0	0	5950	1490	52	5	4945	5	FMN2	1	240555839	Missense_Mutation	SNP	T	TCGA-BR-8679-01A-11D-2394-08	47406172	240555839	8694782	15	66454											
NT5C1B	93034	broad.mit.edu	37	chr2	18766140	18766140	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccggggcagctggggcgaCgcgggtggctggagcgaggg	24	9	0	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:18766140C>T	uc002rcz.2	-	5	647	c.543G>A	c.(541-543)GCG>GCA	p.A181A	NT5C1B_uc002rcy.2_Silent_p.A181A|NT5C1B_uc010exr.2_Silent_p.A123A|NT5C1B_uc010yju.1_Silent_p.A121A|NT5C1B_uc002rda.2_Silent_p.A121A|NT5C1B_uc010yjv.1_Silent_p.A198A|NT5C1B_uc010yjw.1_Silent_p.A164A|NT5C1B_uc010exs.2_Silent_p.A183A|NT5C1B_uc002rdb.1_5'UTR	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 1	181	Pro-rich.				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GCTGGGGCGACGCGGGTGGCT	0.716													T	18766140	C	T	18766140	2	4	103	1	0	0	0	0	0	0	0	1	10686	523	19	1		1	NT5C1B	2	18766140	Silent	SNP	C	TCGA-BR-8679-01A-11D-2394-08		18766140	224433233	16	66455											
SLC5A6	8884	broad.mit.edu	37	chr2	27427688	27427688	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccttctccgtgcgggaactGaggtaccgctgcacctgagc	13	14	1	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:27427688G>A	uc002rjd.2	-	8	1237	c.846C>T	c.(844-846)CTC>CTT	p.L282L	SLC5A6_uc010eyv.1_Silent_p.L282L	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	282					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	TGCGGGAACTGAGGTACCGCT	0.597													A	27427688	G	A	27427688	2	1	103	1	0	0	0	0	0	0	0	1	14669	1277	45	4		4	SLC5A6	2	27427688	Silent	SNP	G	TCGA-BR-8679-01A-11D-2394-08	8661548	27427688	215771685	17	66456											
BIRC6	57448	broad.mit.edu	37	chr2	32670603	32670603	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggttctgtctattggTattttgtcttactgaattat	7	6	3	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:32670603T>C	uc010ezu.2	+	21	4485	c.4351T>C	c.(4351-4353)TAT>CAT	p.Y1451H		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1451					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TGTCTATTGGTATTTTGTCTT	0.348													C	32670603	T	C	32670603	3	2	103	1	0	0	0	0	1	0	0	0	1438	1638	57	3	4433	3	BIRC6	2	32670603	Missense_Mutation	SNP	T	TCGA-BR-8679-01A-11D-2394-08	5242915	32670603	210528770	18	66457											
FAM98A	25940	broad.mit.edu	37	chr2	33810313	33810313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatggtcatagccaccacGtccacctctcccgcctcctt	5	20	2	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:33810313G>A	uc002rpa.1	-	8	1161	c.1087C>T	c.(1087-1089)CGT>TGT	p.R363C	FAM98A_uc010yne.1_Missense_Mutation_p.R168C|FAM98A_uc010ynd.1_Missense_Mutation_p.R194C|FAM98A_uc002roz.1_Missense_Mutation_p.R201C	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	hypothetical protein LOC25940	364	Gly-rich.									ovary(1)	1	all_hematologic(175;0.115)					TAGCCACCACGTCCACCTCTC	0.587													A	33810313	G	A	33810313	3	1	103	1	0	0	0	0	1	0	0	0	5656	1145	40	1	473	1	FAM98A	2	33810313	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	1139710	33810313	209389060	19	66458											
SLC4A5	57835	broad.mit.edu	37	chr2	74460534	74460534	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagtaccggccttaccttcaGtttgttctccttccggttga	8	12	2	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:74460534G>T	uc002sko.1	-	18	2592	c.2590C>A	c.(2590-2592)CTG>ATG	p.L864M	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.L864M|SLC4A5_uc010ffc.1_Missense_Mutation_p.L864M|SLC4A5_uc002skp.1_Missense_Mutation_p.L762M|SLC4A5_uc002sks.1_Missense_Mutation_p.L826M	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	864	Extracellular (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						CTTACCTTCAGTTTGTTCTCC	0.512													T	74460534	G	T	74460534	3	4	103	1	0	0	0	0	1	0	0	0	14657	1020	36	5	859	5	SLC4A5	2	74460534	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	40650221	74460534	168738839	20	66459											
SMYD1	150572	broad.mit.edu	37	chr2	88405935	88405935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggatgctgagcattgtttCggaggtcctttcctacctcc	11	12	0	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:88405935C>T	uc002ssr.2	+	8	1075	c.1073C>T	c.(1072-1074)TCG>TTG	p.S358L	SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Missense_Mutation_p.S54L	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						AGCATTGTTTCGGAGGTCCTT	0.522													T	88405935	C	T	88405935	3	4	103	1	0	0	0	0	1	0	0	0	14821	893	31	1	1103	1	SMYD1	2	88405935	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	13945401	88405935	154793438	21	66460											
THSD7B	80731	broad.mit.edu	37	chr2	137928482	137928482	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgggacatcgtattcTgaaggccgtctgccagaatg	13	10	2	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:137928482T>C	uc002tva.1	+	6	1604	c.1604T>C	c.(1603-1605)CTG>CCG	p.L535P	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.L425P	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		CATCGTATTCTGAAGGCCGTC	0.493													C	137928482	T	C	137928482	3	2	103	1	0	0	0	0	1	0	0	0	15877	1580	55	3	1626	3	THSD7B	2	137928482	Missense_Mutation	SNP	T	TCGA-BR-8679-01A-11D-2394-08	49522547	137928482	105270891	22	66461											
GALNT13	114805	broad.mit.edu	37	chr2	155295200	155295200	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taatcatgttaaaatgccacCatatgagaggaaatcagtta	7	6	2	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:155295200C>A	uc002tyr.3	+	12	2059	c.1492C>A	c.(1492-1494)CAT>AAT	p.H498N	GALNT13_uc002tyt.3_Missense_Mutation_p.H498N|GALNT13_uc010fod.2_Missense_Mutation_p.P230Q|uc002tyu.1_Intron	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	498	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						AAAATGCCACCATATGAGAGG	0.338													A	155295200	C	A	155295200	3	1	103	1	0	0	0	0	1	0	0	0	6211	594	21	5	1530	5	GALNT13	2	155295200	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	17366718	155295200	87904173	23	66462											
XIRP2	129446	broad.mit.edu	37	chr2	167760210	167760210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggggaagagatgtggagttCgaagccggaagagaaggatt	18	3	0	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:167760210C>T	uc002udx.2	+	1	236	c.218C>T	c.(217-219)TCG>TTG	p.S73L	XIRP2_uc010fpn.2_Missense_Mutation_p.S73L|XIRP2_uc010fpo.2_Missense_Mutation_p.S73L|XIRP2_uc010fpp.2_Missense_Mutation_p.S73L	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	Error:Variant_position_missing_in_A4UGR9_after_alignment					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						ATGTGGAGTTCGAAGCCGGAA	0.522													T	167760210	C	T	167760210	3	4	103	1	0	0	0	0	1	0	0	0	17427	893	31	1	220	1	XIRP2	2	167760210	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	12465010	167760210	75439163	24	66463											
OSBPL6	114880	broad.mit.edu	37	chr2	179247234	179247234	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagacaatatttctcggcaaAgtatgcatcatttgagcttc	7	9	2	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:179247234A>C	uc002ulx.2	+	16	1999	c.1621A>C	c.(1621-1623)ATC>CTC	p.I541L	OSBPL6_uc002ulw.2_Missense_Mutation_p.S474R|OSBPL6_uc002uly.2_Missense_Mutation_p.I566L|OSBPL6_uc010zfe.1_Missense_Mutation_p.I510L|OSBPL6_uc002ulz.2_Missense_Mutation_p.I505L|OSBPL6_uc002uma.2_Missense_Mutation_p.I545L	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	541					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTCTCGGCAAAGTATGCATCA	0.448													C	179247234	A	C	179247234	3	2	103	1	0	0	0	0	1	0	0	0	11281	86	3	5	1797	5	OSBPL6	2	179247234	Missense_Mutation	SNP	A	TCGA-BR-8679-01A-11D-2394-08	11487024	179247234	63952139	25	66464											
TTN	7273	broad.mit.edu	37	chr2	179585348	179585348	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatcacatcagaacctttaAgagctcctactggagaaggc	9	10	2	3			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:179585348A>G	uc010zfg.1	-	77	19633	c.19409T>C	c.(19408-19410)CTT>CCT	p.L6470P	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L3131P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7397							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAACCTTTAAGAGCTCCTAC	0.393													G	179585348	A	G	179585348	3	3	103	1	0	0	0	0	1	0	0	0	16732	72	3	3	81520	3	TTN	2	179585348	Missense_Mutation	SNP	A	TCGA-BR-8679-01A-11D-2394-08	338114	179585348	63614025	26	66465											
ERBB4	2066	broad.mit.edu	37	chr2	212522548	212522548	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcatgactagtgggaccgTtacacctgcaggcaattaca	10	10	1	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:212522548T>G	uc002veg.1	-	16	1975	c.1877A>C	c.(1876-1878)AAC>ACC	p.N626T	ERBB4_uc002veh.1_Missense_Mutation_p.N626T|ERBB4_uc010zji.1_Intron|ERBB4_uc010zjj.1_Intron|ERBB4_uc010fut.1_Missense_Mutation_p.N626T	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	626	Extracellular (Potential).|Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AGTGGGACCGTTACACCTGCA	0.473										TSP Lung(8;0.080)			G	212522548	T	G	212522548	3	3	103	1	0	0	0	0	1	0	0	0	5209	1725	60	5	2101	5	ERBB4	2	212522548	Missense_Mutation	SNP	T	TCGA-BR-8679-01A-11D-2394-08	32937200	212522548	30676825	27	66466											
PID1	55022	broad.mit.edu	37	chr2	229890648	229890648	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcactgtggcctccccTttgtggtcgagatgatggag	14	9	0	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:229890648T>A	uc002vpr.3	-	3	491	c.453A>T	c.(451-453)AAA>AAT	p.K151N	PID1_uc002vps.3_Missense_Mutation_p.K149N|PID1_uc002vpt.3_Missense_Mutation_p.K118N|PID1_uc002vpu.3_Missense_Mutation_p.K69N	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	151	PID.					cytoplasm				breast(3)|skin(1)	4		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TGGCCTCCCCTTTGTGGTCGA	0.587													A	229890648	T	A	229890648	3	1	103	1	0	0	0	0	1	0	0	0	11882	1606	56	5	303	5	PID1	2	229890648	Missense_Mutation	SNP	T	TCGA-BR-8679-01A-11D-2394-08	17368100	229890648	13308725	28	66467											
TMEM40	55287	broad.mit.edu	37	chr3	12778267	12778267	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcacctcccctcacctgcGtaatagtgataacacaccag	8	15	1	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr3:12778267G>A	uc003bxg.1	-	9	667	c.540C>T	c.(538-540)TAC>TAT	p.Y180Y	TMEM40_uc003bxh.1_Silent_p.Y150Y|TMEM40_uc003bxi.1_Silent_p.Y104Y|TMEM40_uc011auv.1_Silent_p.Y196Y	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	180	Helical; (Potential).					integral to membrane					0						CCTCACCTGCGTAATAGTGAT	0.592													A	12778267	G	A	12778267	2	1	103	1	0	0	0	0	0	0	0	1	16160	1140	40	1		1	TMEM40	3	12778267	Silent	SNP	G	TCGA-BR-8679-01A-11D-2394-08		12778267	185244163	29	66468											
C3orf20	84077	broad.mit.edu	37	chr3	14770029	14770029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccagaactcatcccgagCggctccccaagctaagttta	8	14	1	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr3:14770029C>T	uc003byy.2	+	12	2178	c.1774C>T	c.(1774-1776)CGG>TGG	p.R592W	C3orf20_uc003byz.2_Missense_Mutation_p.R470W|C3orf20_uc003bza.2_Missense_Mutation_p.R470W|C3orf20_uc003bzb.1_Missense_Mutation_p.R93W	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	592						cytoplasm|integral to membrane				ovary(3)|skin(1)	4						TCATCCCGAGCGGCTCCCCAA	0.453													T	14770029	C	T	14770029	3	4	103	1	0	0	0	0	1	0	0	0	2213	759	27	1	1812	1	C3orf20	3	14770029	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	1991762	14770029	183252401	30	66469											
ANO10	55129	broad.mit.edu	37	chr3	43408442	43408442	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttccattggttcctccttcaGgttctcggtcacgagcttca	8	13	4	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr3:43408442G>C	uc003cmv.2	-	13	2110	c.1939C>G	c.(1939-1941)CTG>GTG	p.L647V	ANO10_uc011azs.1_3'UTR|ANO10_uc003cmw.2_Missense_Mutation_p.L581V|ANO10_uc010hil.2_Missense_Mutation_p.L457V|ANO10_uc011azt.1_Missense_Mutation_p.L536V	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	transmembrane protein 16K	647	Cytoplasmic (Potential).				cell death	chloride channel complex	chloride channel activity			ovary(2)	2						TCCTCCTTCAGGTTCTCGGTC	0.572													C	43408442	G	C	43408442	3	2	103	1	0	0	0	0	1	0	0	0	696	991	35	5	47	5	ANO10	3	43408442	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	28638413	43408442	154613988	31	66470											
ROBO2	6092	broad.mit.edu	37	chr3	77657047	77657047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctctacctccccccccaGtccagccccttcctggcacg	5	24	1	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr3:77657047G>A	uc003dpy.3	+	21	3878	c.3235G>A	c.(3235-3237)GTC>ATC	p.V1079I	ROBO2_uc003dpz.2_Missense_Mutation_p.V1083I|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.V1083I|ROBO2_uc003dqa.2_Missense_Mutation_p.V206I	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1079	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCCCCCCCAGTCCAGCCCCT	0.458													A	77657047	G	A	77657047	3	1	103	1	0	0	0	0	1	0	0	0	13514	1029	36	4	3319	4	ROBO2	3	77657047	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	34248605	77657047	120365383	32	66471											
UROC1	131669	broad.mit.edu	37	chr3	126224579	126224579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcaccccacgatgactgCggccttggcctgagccccac	11	17	0	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr3:126224579C>T	uc003eiz.1	-	8	810	c.778G>A	c.(778-780)GCA>ACA	p.A260T	UROC1_uc010hsi.1_Missense_Mutation_p.A260T	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	260					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		ACGATGACTGCGGCCTTGGCC	0.458													T	126224579	C	T	126224579	3	4	103	1	0	0	0	0	1	0	0	0	17025	768	27	1	1488	1	UROC1	3	126224579	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	48567532	126224579	71797851	33	66472											
DHX36	170506	broad.mit.edu	37	chr3	154013119	154013119	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatgtaaaggtataattAaaaatttatctgaaaattaa	6	1	1	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr3:154013119A>T	uc003ezy.3	-	13	1640	c.1559T>A	c.(1558-1560)TTA>TAA	p.L520*	DHX36_uc010hvq.2_Intron|DHX36_uc003ezz.3_Nonsense_Mutation_p.L520*	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	520	Nuclear localization signal.|Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGGTATAATTAAAAATTTATC	0.299													T	154013119	A	T	154013119	4	4	103	1	0	0	0	0	0	1	0	0	4509	372	13	5	1519	5	DHX36	3	154013119	Nonsense_Mutation	SNP	A	TCGA-BR-8679-01A-11D-2394-08	27788540	154013119	44009311	34	66473											
KCNMB2	10242	broad.mit.edu	37	chr3	178560469	178560469	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatacctaaatgtggaaaaaAttttgaagaatccatgtccc	6	7	0	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr3:178560469A>T	uc003fjd.2	+	5	795	c.452A>T	c.(451-453)AAT>ATT	p.N151I	uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Missense_Mutation_p.N151I|KCNMB2_uc003fjf.2_Missense_Mutation_p.N151I|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_RNA	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	calcium-activated potassium channel beta 2	151	Extracellular (Potential).				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(1)	1	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			TGTGGAAAAAATTTTGAAGAA	0.398													T	178560469	A	T	178560469	3	4	103	1	0	0	0	0	1	0	0	0	8075	101	4	5	466	5	KCNMB2	3	178560469	Missense_Mutation	SNP	A	TCGA-BR-8679-01A-11D-2394-08	24547350	178560469	19461961	35	66474											
DRD5	1816	broad.mit.edu	37	chr4	9783718	9783718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctctataccagcagctggCgcaggggaacgccgtggggg	17	12	1	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr4:9783718C>T	uc003gmb.3	+	1	461	c.65C>T	c.(64-66)GCG>GTG	p.A22V		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	22	Extracellular (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CAGCAGCTGGCGCAGGGGAAC	0.706													T	9783718	C	T	9783718	3	4	103	1	0	0	0	0	1	0	0	0	4760	768	27	1	67	1	DRD5	4	9783718	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08		9783718	181370558	36	66475											
GNPDA2	132789	broad.mit.edu	37	chr4	44720403	44720403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgatattctattagttttTtatagcatcctaaaggtgta	6	4	1	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr4:44720403T>C	uc003gwy.2	-	3	306	c.149A>G	c.(148-150)AAA>AGA	p.K50R	GNPDA2_uc010iga.2_Intron|GNPDA2_uc011bzb.1_5'UTR|GNPDA2_uc003gwz.1_Missense_Mutation_p.K50R	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	50					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			ovary(1)	1						TATTAGTTTTTTATAGCATCC	0.244													C	44720403	T	C	44720403	3	2	103	1	0	0	0	0	1	0	0	0	6543	1841	64	3	701	3	GNPDA2	4	44720403	Missense_Mutation	SNP	T	TCGA-BR-8679-01A-11D-2394-08	34936685	44720403	146433873	37	66476											
TRAM1L1	133022	broad.mit.edu	37	chr4	118005573	118005573	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaggcctgaatattagaaTcttctacccacctctgaagc	7	11	3	4			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr4:118005573T>C	uc003ibv.3	-	1	1164	c.977A>G	c.(976-978)GAT>GGT	p.D326G		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like	326	Cytoplasmic (Potential).|TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)	1						AATATTAGAATCTTCTACCCA	0.418													C	118005573	T	C	118005573	3	2	103	1	0	0	0	0	1	0	0	0	16449	1435	50	3	136	3	TRAM1L1	4	118005573	Missense_Mutation	SNP	T	TCGA-BR-8679-01A-11D-2394-08	73285170	118005573	73148703	38	66477											
FAT4	79633	broad.mit.edu	37	chr4	126240675	126240675	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaattgcatacaccattgctGaaggaaatacaggggatgct	10	7	0	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr4:126240675G>A	uc003ifj.3	+	1	3109	c.3109G>A	c.(3109-3111)GAA>AAA	p.E1037K		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1037	Cadherin 10.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CACCATTGCTGAAGGAAATAC	0.388													A	126240675	G	A	126240675	3	1	103	1	0	0	0	0	1	0	0	0	5692	1291	45	4	3111	4	FAT4	4	126240675	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	8235102	126240675	64913601	39	66478											
MAP9	79884	broad.mit.edu	37	chr4	156277001	156277001	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcgatggagttctccttttaGaactagatttcttcaaaaac	6	8	3	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr4:156277001G>A	uc003ios.2	-	9	1421	c.1157C>T	c.(1156-1158)TCT>TTT	p.S386F	MAP9_uc011cin.1_Missense_Mutation_p.S361F|MAP9_uc010iqa.1_Intron|MAP9_uc003iot.1_Missense_Mutation_p.S385F	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	aster-associated protein	386					cell division|mitosis	cytoplasm|microtubule|spindle				ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TCTCCTTTTAGAACTAGATTT	0.348													A	156277001	G	A	156277001	3	1	103	1	0	0	0	0	1	0	0	0	9270	942	33	4	810	4	MAP9	4	156277001	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	30036326	156277001	34877275	40	66479											
IRX2	153572	broad.mit.edu	37	chr5	2748985	2748985	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgaggtcacgggcttgggCggcgccaggccccgctcgcc	17	16	1	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:2748985C>T	uc003jda.2	-	3	1079	c.837G>A	c.(835-837)CCG>CCA	p.P279P	IRX2_uc003jdb.2_Silent_p.P279P	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	279						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		CGGGCTTGGGCGGCGCCAGGC	0.607													T	2748985	C	T	2748985	2	4	103	1	0	0	0	0	0	0	0	1	7844	755	27	1		1	IRX2	5	2748985	Silent	SNP	C	TCGA-BR-8679-01A-11D-2394-08		2748985	178166275	41	66480											
ADAMTS16	170690	broad.mit.edu	37	chr5	5237162	5237162	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaataaagtcaaagatgggActccatgctcggaggatagc	11	8	1	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:5237162A>C	uc003jdl.2	+	14	2242	c.2104A>C	c.(2104-2106)ACT>CCT	p.T702P	ADAMTS16_uc003jdk.1_Missense_Mutation_p.T702P|ADAMTS16_uc010itk.1_Intron	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	702	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CAAAGATGGGACTCCATGCTC	0.303													C	5237162	A	C	5237162	3	2	103	1	0	0	0	0	1	0	0	0	261	275	10	5	2158	5	ADAMTS16	5	5237162	Missense_Mutation	SNP	A	TCGA-BR-8679-01A-11D-2394-08	2488177	5237162	175678098	42	66481											
PTGER4	5734	broad.mit.edu	37	chr5	40692448	40692465	+	In_Frame_Del	DEL	GAAACACTGAACTTATCA	GAAACACTGAACTTATCA	-													tgcaagtcacatttcccagtGaaacactgaacttatcagaa							TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:40692447_40692464TGAAACACTGAACTTATCA>T	uc003jlz.3	+	2	2026_2043	c.1434_1451TGAAACACTGAACTTATCA>T	c.(1432-1452)agtgaaacactgaacttatca>agTa	p.478_484SETLNLS>S		NM_000958	NP_000949	P35408	PE2R4_HUMAN	Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA.	478					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CATTTCCCAGTGAAACACTGAACTTATCAGAAAAATGT	0.468													-	40692465	GAAACACTGAACTTATCA	-	40692448	7	5	103	1	0	1	0	1	0	0	0	0	12745	1291	45	0	1441	0	PTGER4	5	40692448	In_Frame_Del	DEL	GAAACACTGAACTTATCA	TCGA-BR-8679-01A-11D-2394-08	35455286	40692448	140222812	43	66482											
NNT	23530	broad.mit.edu	37	chr5	43609403	43609403	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaggattttttacgaacaTtttatactcaccaagaactg	6	7	1	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:43609403T>G	uc003joe.2	+	2	361	c.106T>G	c.(106-108)TTT>GTT	p.F36V	NNT_uc003jof.2_Missense_Mutation_p.F36V	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	36					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	TTTACGAACATTTTATACTCA	0.403													G	43609403	T	G	43609403	3	3	103	1	0	0	0	0	1	0	0	0	10510	1493	52	5	108	5	NNT	5	43609403	Missense_Mutation	SNP	T	TCGA-BR-8679-01A-11D-2394-08	2916955	43609403	137305857	44	66483											
ITGA1	3672	broad.mit.edu	37	chr5	52145263	52145263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgactttcagcggcccGgtggaagacatgtttggata	12	8	2	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:52145263G>A	uc003jou.2	+	2	178	c.126G>A	c.(124-126)CCG>CCA	p.P42P	ITGA1_uc003jov.2_RNA	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	42	Extracellular (Potential).|FG-GAP 1.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TCAGCGGCCCGGTGGAAGACA	0.358													A	52145263	G	A	52145263	2	1	103	1	0	0	0	0	0	0	0	1	7872	1103	39	1		1	ITGA1	5	52145263	Silent	SNP	G	TCGA-BR-8679-01A-11D-2394-08	8535860	52145263	128769997	45	66484											
PDE8B	8622	broad.mit.edu	37	chr5	76717658	76717658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttccagattgaaggcagcGactgtgaatgcaaccctgct	10	10	0	3	rs116027371	by1000genomes	TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:76717658G>A	uc003kfa.2	+	20	2308	c.2263G>A	c.(2263-2265)GAC>AAC	p.D755N	PDE8B_uc003kfb.2_Missense_Mutation_p.D735N|PDE8B_uc003kfc.2_Missense_Mutation_p.D700N|PDE8B_uc003kfd.2_Missense_Mutation_p.D708N|PDE8B_uc003kfe.2_Missense_Mutation_p.D658N	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	755	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TGAAGGCAGCGACTGTGAATG	0.507													A	76717658	G	A	76717658	3	1	103	1	0	0	0	0	1	0	0	0	11654	1058	37	1	2341	1	PDE8B	5	76717658	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	24572395	76717658	104197602	46	66485											
SLCO4C1	353189	broad.mit.edu	37	chr5	101597686	101597686	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatccatgatagaagaaaCccaatccaccaagctcccaa	5	13	0	4			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:101597686C>T	uc003knm.2	-	5	1238	c.951G>A	c.(949-951)GGG>GGA	p.G317G		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	317	Helical; Name=6; (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATAGAAGAAACCCAATCCACC	0.373													T	101597686	C	T	101597686	2	4	103	1	0	0	0	0	0	0	0	1	14730	494	18	4		4	SLCO4C1	5	101597686	Silent	SNP	C	TCGA-BR-8679-01A-11D-2394-08	24880028	101597686	79317574	47	66486											
SPOCK1	6695	broad.mit.edu	37	chr5	136324212	136324212	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcttgatacagggctcgtacTtatccaggtagatggcattg	12	8	0	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:136324212T>A	uc003lbo.2	-	7	1018	c.827A>T	c.(826-828)AAG>ATG	p.K276M	SPOCK1_uc003lbp.2_Missense_Mutation_p.K276M	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	276					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGCTCGTACTTATCCAGGTA	0.493													A	136324212	T	A	136324212	3	1	103	1	0	0	0	0	1	0	0	0	15078	1609	56	5	508	5	SPOCK1	5	136324212	Missense_Mutation	SNP	T	TCGA-BR-8679-01A-11D-2394-08	34726526	136324212	44591048	48	66487											
PCDHB3	56132	broad.mit.edu	37	chr5	140481830	140481830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttcgagttccgcgtgggcGccacagaccgtggctccccg	14	16	0	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:140481830G>A	uc003lio.2	+	1	1597	c.1597G>A	c.(1597-1599)GCC>ACC	p.A533T	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	533	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCGTGGGCGCCACAGACCG	0.667													A	140481830	G	A	140481830	3	1	103	1	0	0	0	0	1	0	0	0	11543	1087	38	1	1599	1	PCDHB3	5	140481830	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	4157618	140481830	40433430	49	66488											
PCDHGA8	9708	broad.mit.edu	37	chr5	140774731	140774731	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgctcatcagtcaggaggGctgtgagaaaaatgattctt	11	7	4	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:140774731G>T	uc003lkd.1	+	1	3249	c.2351G>T	c.(2350-2352)GGC>GTC	p.G784V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.G784V|PCDHGB5_uc011daw.1_5'Flank|PCDHGB5_uc003lkf.1_5'Flank	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	784	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCAGGAGGGCTGTGAGAAA	0.458													T	140774731	G	T	140774731	3	4	103	1	0	0	0	0	1	0	0	0	11560	1203	42	5	2353	5	PCDHGA8	5	140774731	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	292901	140774731	40140529	50	66489											
ADRB2	154	broad.mit.edu	37	chr5	148206648	148206648	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatctggtcatgggcctggCagtggtgccctttggggccg	17	10	2	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:148206648C>A	uc003lpr.1	+	1	493	c.254C>A	c.(253-255)GCA>GAA	p.A85E	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	85	Helical; Name=2.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	ATGGGCCTGGCAGTGGTGCCC	0.532													A	148206648	C	A	148206648	3	1	103	1	0	0	0	0	1	0	0	0	341	710	25	5	256	5	ADRB2	5	148206648	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	7431917	148206648	32708612	51	66490											
ARSI	340075	broad.mit.edu	37	chr5	149677830	149677830	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgagggctgtggctggccagGatatggctggcgcgctgggc	20	9	0	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:149677830G>T	uc003lrv.2	-	2	1246	c.657C>A	c.(655-657)ATC>ATA	p.I219I		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	219						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCTGGCCAGGATATGGCTGG	0.632													T	149677830	G	T	149677830	2	4	103	1	0	0	0	0	0	0	0	1	994	1164	41	5		5	ARSI	5	149677830	Silent	SNP	G	TCGA-BR-8679-01A-11D-2394-08	1471182	149677830	31237430	52	66491											
SOX30	11063	broad.mit.edu	37	chr5	157073789	157073789	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaacacttagagggaatcGttttcgcttccctggacgag	12	9	0	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:157073789G>A	uc003lxb.1	-	3	1585	c.1243C>T	c.(1243-1245)CGA>TGA	p.R415*	SOX30_uc003lxc.1_Nonsense_Mutation_p.R415*|SOX30_uc011dds.1_Nonsense_Mutation_p.R110*	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	415					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAGGGAATCGTTTTCGCTTC	0.368													A	157073789	G	A	157073789	4	1	103	1	0	0	0	0	0	1	0	0	14952	1153	40	1	1030	1	SOX30	5	157073789	Nonsense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	7395959	157073789	23841471	53	66492											
HIST1H3A	8350	broad.mit.edu	37	chr6	26021060	26021060	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaacctgtgcgccatccacGccaagcgcgtcactatcatg	8	16	2	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:26021060G>T	uc003nfp.1	+	1	343	c.343G>T	c.(343-345)GCC>TCC	p.A115S	HIST1H4A_uc003nfq.2_5'Flank	NM_003529	NP_003520	P68431	H31_HUMAN	histone cluster 1, H3a	115					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)|pancreas(1)	2						CGCCATCCACGCCAAGCGCGT	0.602													T	26021060	G	T	26021060	3	4	103	1	0	0	0	0	1	0	0	0	7155	1087	38	5	345	5	HIST1H3A	6	26021060	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08		26021060	145094007	54	66493											
BTN2A2	10385	broad.mit.edu	37	chr6	26388520	26388520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaactgtcatttttattcCaggttagttctctgccctct	7	10	3	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:26388520C>T	uc003nhq.2	+	4	808	c.722C>T	c.(721-723)CCA>CTA	p.P241L	BTN2A2_uc011dkf.1_Missense_Mutation_p.P125L|BTN2A2_uc011dkg.1_Intron|BTN2A2_uc003nhr.2_Missense_Mutation_p.P125L|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Missense_Mutation_p.P241L|BTN2A2_uc003nht.2_Missense_Mutation_p.P241L|BTN2A2_uc011dki.1_5'Flank	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	241	Extracellular (Potential).				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						ATTTTTATTCCAGGTTAGTTC	0.522													T	26388520	C	T	26388520	3	4	103	1	0	0	0	0	1	0	0	0	1561	594	21	4	732	4	BTN2A2	6	26388520	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	367460	26388520	144726547	55	66494											
BTN3A1	11119	broad.mit.edu	37	chr6	26413839	26413839	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catattcatactttcctggaCgtctccttctctgaggctct	6	13	4	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:26413839C>T	uc003nhv.2	+	10	1829	c.1461C>T	c.(1459-1461)GAC>GAT	p.D487D	BTN3A1_uc011dkj.1_3'UTR|BTN3A1_uc011dkk.1_Silent_p.D435D|BTN3A1_uc010jqj.2_3'UTR	NM_007048	NP_008979	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1 isoform a	487	Cytoplasmic (Potential).|B30.2/SPRY.				lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						CTTTCCTGGACGTCTCCTTCT	0.468													T	26413839	C	T	26413839	2	4	103	1	0	0	0	0	0	0	0	1	1562	535	19	1		1	BTN3A1	6	26413839	Silent	SNP	C	TCGA-BR-8679-01A-11D-2394-08	25319	26413839	144701228	56	66495											
HIST1H2BJ	8970	broad.mit.edu	37	chr6	27100278	27100278	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatggtcgagcgcttgttGtaatgcgccaggcgggaagc	17	8	0	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:27100278G>A	uc003niv.2	-	1	298	c.252C>T	c.(250-252)TAC>TAT	p.Y84Y	HIST1H2BJ_uc003niu.1_Intron|HIST1H2AG_uc003niw.2_5'Flank	NM_021058	NP_066402	P06899	H2B1J_HUMAN	histone cluster 1, H2bj	84					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding				0						AGCGCTTGTTGTAATGCGCCA	0.602													A	27100278	G	A	27100278	2	1	103	1	0	0	0	0	0	0	0	1	7149	1372	48	4		4	HIST1H2BJ	6	27100278	Silent	SNP	G	TCGA-BR-8679-01A-11D-2394-08	686439	27100278	144014789	57	66496											
HIST1H2AL	8332	broad.mit.edu	37	chr6	27833333	27833333	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgagatcctggagctggcGggcaacgccgcccgcgacaa	15	15	0	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:27833333G>T	uc003njw.2	+	1	227	c.201G>T	c.(199-201)GCG>GCT	p.A67A		NM_003511	NP_003502	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	67					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding				0						TGGAGCTGGCGGGCAACGCCG	0.667													T	27833333	G	T	27833333	2	4	103	1	0	0	0	0	0	0	0	1	7138	1103	39	5		5	HIST1H2AL	6	27833333	Silent	SNP	G	TCGA-BR-8679-01A-11D-2394-08	733055	27833333	143281734	58	66497											
HLA-G	3135	broad.mit.edu	37	chr6	29795926	29795926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgacacgcagttcgtgcGgttcgacagcgactcggcgt	15	12	0	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:29795926G>A	uc003nnw.2	+	3	354	c.176G>A	c.(175-177)CGG>CAG	p.R59Q	HLA-G_uc011dmb.1_Missense_Mutation_p.R31Q|HLA-G_uc003raj.3_Missense_Mutation_p.R64Q|HLA-G_uc003nnz.3_Missense_Mutation_p.R59Q|HLA-G_uc010jrn.2_Missense_Mutation_p.R59Q|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	59	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			ovary(3)|central_nervous_system(1)	4						CAGTTCGTGCGGTTCGACAGC	0.682													A	29795926	G	A	29795926	3	1	103	1	0	0	0	0	1	0	0	0	7212	1116	39	1	182	1	HLA-G	6	29795926	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	1962593	29795926	141319141	59	66498											
BAT3	7917	broad.mit.edu	37	chr6	31611880	31611880	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtgtcccagagactgggggCcctccaggatgggaaggccg	17	11	0	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:31611880C>G	uc003nvg.3	-	12	1871	c.1557G>C	c.(1555-1557)GGG>GGC	p.G519G	BAT3_uc003nvf.3_Silent_p.G513G|BAT3_uc003nvh.3_Silent_p.G513G|BAT3_uc003nvi.3_Silent_p.G513G|BAT3_uc011dnw.1_Silent_p.G513G|BAT3_uc011dnx.1_Silent_p.G513G	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	519	Pro-rich.|4 X 29 AA approximate repeats.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0						AGACTGGGGGCCCTCCAGGAT	0.637													G	31611880	C	G	31611880	2	3	103	1	0	0	0	0	0	0	0	1	1322	726	26	5		5	BAT3	6	31611880	Silent	SNP	C	TCGA-BR-8679-01A-11D-2394-08	1815954	31611880	139503187	60	66499											
CFB	629	broad.mit.edu	37	chr6	31914819	31914819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccacacgacttcgagaacGgggaatactggccccggtct	12	13	1	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:31914819G>A	uc003nyj.3	+	3	612	c.334G>A	c.(334-336)GGG>AGG	p.G112R	CFB_uc011dor.1_Missense_Mutation_p.G614R|CFB_uc011dos.1_3'UTR|CFB_uc003nyi.2_Missense_Mutation_p.G112R	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	112	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1						CTTCGAGAACGGGGAATACTG	0.532													A	31914819	G	A	31914819	3	1	103	1	0	0	0	0	1	0	0	0	3278	1116	39	1	344	1	CFB	6	31914819	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	302939	31914819	139200248	61	66500											
TNXB	7148	broad.mit.edu	37	chr6	32065659	32065659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcctccaggatctctagaCggaccctcagggcctgtacc	9	16	2	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:32065659C>T	uc003nzl.2	-	2	519	c.317G>A	c.(316-318)CGT>CAT	p.R106H	TNXB_uc010jts.1_Missense_Mutation_p.R105H|ATF6B_uc003nzm.1_3'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	106					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GATCTCTAGACGGACCCTCAG	0.617													T	32065659	C	T	32065659	3	4	103	1	0	0	0	0	1	0	0	0	16343	536	19	1	14568	1	TNXB	6	32065659	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	150840	32065659	139049408	62	66501											
DNAH8	1769	broad.mit.edu	37	chr6	38816548	38816548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttgaagccgtctttgtaGgtggagatattgccaaacag	11	7	2	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:38816548G>A	uc003ooe.1	+	35	5119	c.4519G>A	c.(4519-4521)GGT>AGT	p.G1507S		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CGTCTTTGTAGGTGGAGATAT	0.368													A	38816548	G	A	38816548	3	1	103	1	0	0	0	0	1	0	0	0	4607	1000	35	4	4649	4	DNAH8	6	38816548	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	6750889	38816548	132298519	63	66502											
FHL5	9457	broad.mit.edu	37	chr6	97052643	97052643	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggatctttgttacaaagaCcggcactggcatgaaggatg	12	7	1	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:97052643C>T	uc003pos.1	+	4	582	c.177C>T	c.(175-177)GAC>GAT	p.D59D	FHL5_uc003pot.1_Silent_p.D59D	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	activator of cAMP-responsive element modulator	59	LIM zinc-binding 1.					nucleus	zinc ion binding			ovary(2)	2		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		GTTACAAAGACCGGCACTGGC	0.433													T	97052643	C	T	97052643	2	4	103	1	0	0	0	0	0	0	0	1	5881	506	18	4		4	FHL5	6	97052643	Silent	SNP	C	TCGA-BR-8679-01A-11D-2394-08	58236095	97052643	74062424	64	66503											
REV3L	5980	broad.mit.edu	37	chr6	111693904	111693905	+	Frame_Shift_Ins	INS	-	-	G													cataatttcttccctacttgINSggggggacataagtggtttc							TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:111693903_111693904T>TG	uc003puy.4	-	12	5995_5996	c.5654_5655A>CA	c.(5653-5655)ccafs	p.P1885fs	REV3L_uc003pux.4_Frame_Shift_Ins_p.P1807fs|REV3L_uc003puz.4_Frame_Shift_Ins_p.P1807fs	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1885	Mediates interaction with MAD2L2.				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCCTACTTGGGGGGGACAT	0.431								DNA polymerases (catalytic subunits)					G	111693905	-	G	111693904	7	5	103	1	0	1	1	0	0	0	0	0	13240	1348	47	0	3818	0	REV3L	6	111693904	Frame_Shift_Ins	INS	-	TCGA-BR-8679-01A-11D-2394-08	14641261	111693904	59421163	65	66504											
ROS1	6098	broad.mit.edu	37	chr6	117632202	117632202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgaatgaaatgcatccGttccaagtagacacagcctt	8	11	0	3	rs139881304		TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:117632202G>A	uc003pxp.1	-	39	6413	c.6214C>T	c.(6214-6216)CGG>TGG	p.R2072W	ROS1_uc011ebi.1_RNA	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	2072	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAATGCATCCGTTCCAAGTAG	0.383			T	GOPC|ROS1	glioblastoma|NSCLC								A	117632202	G	A	117632202	3	1	103	1	0	0	0	0	1	0	0	0	13531	1144	40	1	849	1	ROS1	6	117632202	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	5938298	117632202	53482865	66	66505											
IFNGR1	3459	broad.mit.edu	37	chr6	137525611	137525611	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgatttgcttctcctcctttCtgatatccagtttaggtggt	8	9	2	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:137525611C>T	uc003qho.2	-	4	507	c.404G>A	c.(403-405)AGA>AAA	p.R135K	IFNGR1_uc011edm.1_Missense_Mutation_p.R107K|IFNGR1_uc011edn.1_Missense_Mutation_p.R125K	NM_000416	NP_000407	P15260	INGR1_HUMAN	interferon gamma receptor 1 precursor	135	Extracellular (Potential).				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			upper_aerodigestive_tract(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CTCCTCCTTTCTGATATCCAG	0.388													T	137525611	C	T	137525611	3	4	103	1	0	0	0	0	1	0	0	0	7549	913	32	4	1081	4	IFNGR1	6	137525611	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	19893409	137525611	33589456	67	66506											
CARD11	84433	broad.mit.edu	37	chr7	2962952	2962952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtgccccacagaggtgacCgaaggccggaagggtctgca	15	12	1	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:2962952C>T	uc003smv.2	-	16	2360	c.1956G>A	c.(1954-1956)TCG>TCA	p.S652S		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	652					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CAGAGGTGACCGAAGGCCGGA	0.647			Mis		DLBCL								T	2962952	C	T	2962952	2	4	103	1	0	0	0	0	0	0	0	1	2645	639	23	1		1	CARD11	7	2962952	Silent	SNP	C	TCGA-BR-8679-01A-11D-2394-08		2962952	156175711	68	66507											
DGKB	1607	broad.mit.edu	37	chr7	14378334	14378334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctatctgtactccatcaCactgatcggtaaaaagaaag	6	9	3	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:14378334C>T	uc003ssz.2	-	22	2118	c.1931G>A	c.(1930-1932)TGT>TAT	p.C644Y	DGKB_uc011jxt.1_Missense_Mutation_p.C625Y|DGKB_uc003sta.2_Missense_Mutation_p.C644Y|DGKB_uc011jxu.1_Missense_Mutation_p.C643Y	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	644					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)	TACTCCATCACACTGATCGGT	0.338													T	14378334	C	T	14378334	3	4	103	1	0	0	0	0	1	0	0	0	4466	492	17	4	514	4	DGKB	7	14378334	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	11415382	14378334	144760329	69	66508											
AVL9	23080	broad.mit.edu	37	chr7	32598846	32598846	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catctccagattcttcagaaAgtgactgggaaactttggat	9	8	3	3			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:32598846A>C	uc003tcv.1	+	10	1131	c.985A>C	c.(985-987)AGT>CGT	p.S329R	AVL9_uc011kai.1_Missense_Mutation_p.S329R|AVL9_uc010kwj.1_Missense_Mutation_p.S170R	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	329						integral to membrane					0						TTCTTCAGAAAGTGACTGGGA	0.458													C	32598846	A	C	32598846	3	2	103	1	0	0	0	0	1	0	0	0	1228	72	3	5	1023	5	AVL9	7	32598846	Missense_Mutation	SNP	A	TCGA-BR-8679-01A-11D-2394-08	18220512	32598846	126539817	70	66509											
URGCP	55665	broad.mit.edu	37	chr7	43918102	43918102	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtccaagtcctcccttccGctgggaaaaaaccaggaaat	8	12	0	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:43918102G>A	uc003tiw.2	-	6	1017	c.960C>T	c.(958-960)AGC>AGT	p.S320S	URGCP_uc003tiu.2_Silent_p.S277S|URGCP_uc003tiv.2_Silent_p.S245S|URGCP_uc003tix.2_Silent_p.S311S|URGCP_uc003tiy.2_Silent_p.S277S|URGCP_uc003tiz.2_Silent_p.S277S|URGCP_uc011kbj.1_Silent_p.S277S	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	320					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						CCTCCCTTCCGCTGGGAAAAA	0.527													A	43918102	G	A	43918102	2	1	103	1	0	0	0	0	0	0	0	1	17023	1078	38	1		1	URGCP	7	43918102	Silent	SNP	G	TCGA-BR-8679-01A-11D-2394-08	11319256	43918102	115220561	71	66510											
ELN	2006	broad.mit.edu	37	chr7	73466278	73466278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggactccagctgcagctgCagctgcagcagcagccgcta	13	14	0	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:73466278C>T	uc003tzw.2	+	17	1005	c.914C>T	c.(913-915)GCA>GTA	p.A305V	RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_RNA|ELN_uc011kfe.1_Missense_Mutation_p.A274V|ELN_uc003tzn.2_Missense_Mutation_p.A305V|ELN_uc003tzz.2_Missense_Mutation_p.A269V|ELN_uc003tzo.2_Missense_Mutation_p.A291V|ELN_uc003tzp.2_Missense_Mutation_p.A261V|ELN_uc003tzq.2_Missense_Mutation_p.A188V|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Missense_Mutation_p.A305V|ELN_uc003tzt.2_Missense_Mutation_p.A310V|ELN_uc003tzu.2_Missense_Mutation_p.A310V|ELN_uc003tzv.2_Missense_Mutation_p.A295V|ELN_uc003tzx.2_Missense_Mutation_p.A295V|ELN_uc011kff.1_Missense_Mutation_p.A305V|ELN_uc003tzy.2_Missense_Mutation_p.A300V	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	305	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GCTGCAGCTGCAGCTGCAGCA	0.647			T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome				OREG0018112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	73466278	C	T	73466278	3	4	103	1	0	0	0	0	1	0	0	0	5071	710	25	2	995	2	ELN	7	73466278	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	29548176	73466278	85672385	72	66511											
CLIP2	7461	broad.mit.edu	37	chr7	73753054	73753054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcgctacttcgagtgccCggccctccagggtatcttca	11	15	2	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:73753054C>T	uc003uam.2	+	3	725	c.398C>T	c.(397-399)CCG>CTG	p.P133L	CLIP2_uc003uan.2_Missense_Mutation_p.P133L	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	133	CAP-Gly 1.					microtubule associated complex				skin(3)	3						TTCGAGTGCCCGGCCCTCCAG	0.706													T	73753054	C	T	73753054	3	4	103	1	0	0	0	0	1	0	0	0	3533	652	23	1	404	1	CLIP2	7	73753054	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	286776	73753054	85385609	73	66512											
GNAT3	346562	broad.mit.edu	37	chr7	80108223	80108223	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggcctgaattcctggatctCtccacagccgttttattacc	7	13	1	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:80108223C>T	uc011kgu.1	-	4	395	c.395G>A	c.(394-396)AGA>AAA	p.R132K	CD36_uc003uhc.2_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha	132					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						TCCTGGATCTCTCCACAGCCG	0.453													T	80108223	C	T	80108223	3	4	103	1	0	0	0	0	1	0	0	0	6513	913	32	4	687	4	GNAT3	7	80108223	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	6355169	80108223	79030440	74	66513											
HGF	3082	broad.mit.edu	37	chr7	81346652	81346652	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtaattctcattcagcTtacttgcatctggttcccag	8	11	3	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:81346652T>A	uc003uhl.2	-	11	1466	c.1301A>T	c.(1300-1302)AAG>ATG	p.K434M	HGF_uc003uhm.2_Missense_Mutation_p.K429M	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	434	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						CTCATTCAGCTTACTTGCATC	0.428													A	81346652	T	A	81346652	3	1	103	1	0	0	0	0	1	0	0	0	7085	1609	56	5	917	5	HGF	7	81346652	Missense_Mutation	SNP	T	TCGA-BR-8679-01A-11D-2394-08	1238429	81346652	77792011	75	66514											
RUNDC3B	154661	broad.mit.edu	37	chr7	87329803	87329803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatatcagagtggcttgccGgaaagtttcacagaattgta	10	7	2	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:87329803G>A	uc003ujb.2	+	4	767	c.356G>A	c.(355-357)CGG>CAG	p.R119Q	ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.R102Q|RUNDC3B_uc011khe.1_Missense_Mutation_p.R102Q|RUNDC3B_uc003ujc.2_Missense_Mutation_p.R102Q|RUNDC3B_uc003ujd.2_Missense_Mutation_p.R24Q	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	119	RUN.									skin(1)	1	Esophageal squamous(14;0.00164)					GTGGCTTGCCGGAAAGTTTCA	0.378													A	87329803	G	A	87329803	3	1	103	1	0	0	0	0	1	0	0	0	13745	1116	39	1	370	1	RUNDC3B	7	87329803	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	5983151	87329803	71808860	76	66515											
SAMD9L	219285	broad.mit.edu	37	chr7	92760776	92760776	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccactgtgccagagggaattTgtattttgtgctttatcaaa	9	7	1	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:92760776T>A	uc003umh.1	-	5	5725	c.4509A>T	c.(4507-4509)ACA>ACT	p.T1503T	SAMD9L_uc003umj.1_Silent_p.T1503T|SAMD9L_uc003umi.1_Silent_p.T1503T|SAMD9L_uc010lfb.1_Silent_p.T1503T|SAMD9L_uc003umk.1_Silent_p.T1503T|SAMD9L_uc010lfc.1_Silent_p.T1503T|SAMD9L_uc010lfd.1_Silent_p.T1503T|SAMD9L_uc011khx.1_3'UTR	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1503										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAGGGAATTTGTATTTTGTG	0.438													A	92760776	T	A	92760776	2	1	103	1	0	0	0	0	0	0	0	1	13827	1799	63	5		5	SAMD9L	7	92760776	Silent	SNP	T	TCGA-BR-8679-01A-11D-2394-08	5430973	92760776	66377887	77	66516											
PPP1R3A	5506	broad.mit.edu	37	chr7	113522369	113522369	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgatgttactgatgattcTtctttactgttaaatttaaa	5	5	3	3			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:113522369T>G	uc010ljy.1	-	2	820	c.789A>C	c.(787-789)GAA>GAC	p.E263D		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	263					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						CTGATGATTCTTCTTTACTGT	0.279													G	113522369	T	G	113522369	3	3	103	1	0	0	0	0	1	0	0	0	12371	1606	56	5	2591	5	PPP1R3A	7	113522369	Missense_Mutation	SNP	T	TCGA-BR-8679-01A-11D-2394-08	20761593	113522369	45616294	78	66517											
PTN	5764	broad.mit.edu	37	chr7	136938369	136938369	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccattctccacagtcagacTtcttcacttttttttctgaa	4	12	5	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:136938369T>G	uc003vtq.2	-	3	494	c.131A>C	c.(130-132)AAG>ACG	p.K44T	PTN_uc010lmx.2_Missense_Mutation_p.K44T|PTN_uc003vtr.1_Missense_Mutation_p.K44T	NM_002825	NP_002816	P21246	PTN_HUMAN	pleiotrophin	44					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			upper_aerodigestive_tract(1)|pancreas(1)	2						ACAGTCAGACTTCTTCACTTT	0.453													G	136938369	T	G	136938369	3	3	103	1	0	0	0	0	1	0	0	0	12768	1609	56	5	387	5	PTN	7	136938369	Missense_Mutation	SNP	T	TCGA-BR-8679-01A-11D-2394-08	23416000	136938369	22200294	79	66518											
TAS2R4	50832	broad.mit.edu	37	chr7	141478666	141478666	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgaagcggaatatctcCccaaagatccccaggctgct	9	14	1	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:141478666C>T	uc003vwq.1	+	1	378	c.378C>T	c.(376-378)TCC>TCT	p.S126S		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	taste receptor T2R4	126	Cytoplasmic (Potential).				sensory perception of taste	cilium membrane	taste receptor activity				0	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		GGAATATCTCCCCAAAGATCC	0.488													T	141478666	C	T	141478666	2	4	103	1	0	0	0	0	0	0	0	1	15574	610	22	4		4	TAS2R4	7	141478666	Silent	SNP	C	TCGA-BR-8679-01A-11D-2394-08	4540297	141478666	17659997	80	66519											
SSPO	23145	broad.mit.edu	37	chr7	149485454	149485454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgaggcctgtggccccaCgtgtccccccacctgccatg	10	17	0	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:149485454C>T	uc010lpk.2	+	27	3860	c.3860C>T	c.(3859-3861)ACG>ATG	p.T1287M		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1287	TIL 3.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGTGGCCCCACGTGTCCCCCC	0.642													T	149485454	C	T	149485454	3	4	103	1	0	0	0	0	1	0	0	0	15188	536	19	1	3962	1	SSPO	7	149485454	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	8006788	149485454	9653209	81	66520											
DPP6	1804	broad.mit.edu	37	chr7	154585896	154585896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccctctgcgacgccaccaCgggggtctgcacgaaggtac	12	16	2	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:154585896C>T	uc003wlk.2	+	11	1373	c.1244C>T	c.(1243-1245)ACG>ATG	p.T415M	DPP6_uc003wli.2_Missense_Mutation_p.T351M|DPP6_uc003wlm.2_Missense_Mutation_p.T353M|DPP6_uc011kvq.1_Missense_Mutation_p.T308M	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	415	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GACGCCACCACGGGGGTCTGC	0.662													T	154585896	C	T	154585896	3	4	103	1	0	0	0	0	1	0	0	0	4730	536	19	1	1402	1	DPP6	7	154585896	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	5100442	154585896	4552767	82	66521											
RNF32	140545	broad.mit.edu	37	chr7	156468398	156468398	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcctcagttcacagaAatcagccaccgcatcctgtg	6	17	3	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:156468398A>C	uc003wmo.2	+	8	875	c.693A>C	c.(691-693)GAA>GAC	p.E231D	RNF32_uc010lqm.2_Missense_Mutation_p.E231D|RNF32_uc003wmq.2_Missense_Mutation_p.E231D|RNF32_uc003wmr.2_Missense_Mutation_p.E231D|RNF32_uc003wmu.2_RNA	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	ring finger protein 32	231						aggresome|endosome	protein binding|zinc ion binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGTTCACAGAAATCAGCCACC	0.522													C	156468398	A	C	156468398	3	2	103	1	0	0	0	0	1	0	0	0	13488	11	1	5	719	5	RNF32	7	156468398	Missense_Mutation	SNP	A	TCGA-BR-8679-01A-11D-2394-08	1882502	156468398	2670265	83	66522											
TNKS	8658	broad.mit.edu	37	chr8	9622234	9622234	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgttctgtagatgcaaagTactattcgagaacacagaga	9	6	1	3			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:9622234T>C	uc003wss.2	+	23	3386	c.3381T>C	c.(3379-3381)AGT>AGC	p.S1127S	TNKS_uc011kww.1_Silent_p.S890S	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	1127	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		AGATGCAAAGTACTATTCGAG	0.318													C	9622234	T	C	9622234	2	2	103	1	0	0	0	0	0	0	0	1	16316	1635	57	3		3	TNKS	8	9622234	Silent	SNP	T	TCGA-BR-8679-01A-11D-2394-08		9622234	136741788	84	66523											
XPO7	23039	broad.mit.edu	37	chr8	21837641	21837641	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtcagaagatccctgtTtaacaatgcagagagggcca	10	9	2	3			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:21837641T>G	uc003xaa.3	+	9	986	c.884T>G	c.(883-885)TTT>TGT	p.F295C	XPO7_uc010lti.2_Missense_Mutation_p.F304C|XPO7_uc010ltk.2_Missense_Mutation_p.F296C	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	295				Missing (in Ref. 3; BAA34465).	mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AGATCCCTGTTTAACAATGCA	0.398													G	21837641	T	G	21837641	3	3	103	1	0	0	0	0	1	0	0	0	17446	1841	64	5	970	5	XPO7	8	21837641	Missense_Mutation	SNP	T	TCGA-BR-8679-01A-11D-2394-08	12215407	21837641	124526381	85	66524											
NUDT18	79873	broad.mit.edu	37	chr8	21965689	21965689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggacccaggaggggccccGctcctccacggacagcagtg	15	16	0	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:21965689G>A	uc003xaq.1	-	5	450	c.331C>T	c.(331-333)CGG>TGG	p.R111W	NUDT18_uc003xar.1_3'UTR	NM_024815	NP_079091	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety	111	Nudix hydrolase.						hydrolase activity|metal ion binding|protein binding				0				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		GAGGGGCCCCGCTCCTCCACG	0.672													A	21965689	G	A	21965689	3	1	103	1	0	0	0	0	1	0	0	0	10735	1086	38	1	648	1	NUDT18	8	21965689	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	128048	21965689	124398333	86	66525											
POLR3D	661	broad.mit.edu	37	chr8	22105684	22105684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggaactgggataagacaGtggatgtgtcagacatggga	16	5	1	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:22105684G>A	uc003xbl.2	+	5	462	c.379G>A	c.(379-381)GTG>ATG	p.V127M	POLR3D_uc003xbm.2_Missense_Mutation_p.V127M|POLR3D_uc011kze.1_Intron	NM_001722	NP_001713	P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	127					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity				0				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GGATAAGACAGTGGATGTGTC	0.453													A	22105684	G	A	22105684	3	1	103	1	0	0	0	0	1	0	0	0	12231	1029	36	4	393	4	POLR3D	8	22105684	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	139995	22105684	124258338	87	66526											
NEFM	4741	broad.mit.edu	37	chr8	24772237	24772237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagaacaaggaggccatcCgctccgccaaggaagagatc	12	12	0	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:24772237C>T	uc003xed.3	+	1	964	c.931C>T	c.(931-933)CGC>TGC	p.R311C	NEFM_uc011lac.1_Missense_Mutation_p.R311C|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'Flank	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	311	Rod.|Coil 2B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGAGGCCATCCGCTCCGCCAA	0.627													T	24772237	C	T	24772237	3	4	103	1	0	0	0	0	1	0	0	0	10316	652	23	1	933	1	NEFM	8	24772237	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	2666553	24772237	121591785	88	66527											
GGH	8836	broad.mit.edu	37	chr8	63942754	63942754	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agatttgaaaagtatttcatAgtctttctctgtaagatcca	6	6	3	3			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:63942754A>T	uc003xuw.2	-	3	530	c.247T>A	c.(247-249)TAT>AAT	p.Y83N		NM_003878	NP_003869	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase precursor	83	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity				0	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	AGTATTTCATAGTCTTTCTCT	0.313													T	63942754	A	T	63942754	3	4	103	1	0	0	0	0	1	0	0	0	6357	420	15	5	737	5	GGH	8	63942754	Missense_Mutation	SNP	A	TCGA-BR-8679-01A-11D-2394-08	39170517	63942754	82421268	89	66528											
TTPA	7274	broad.mit.edu	37	chr8	63978606	63978606	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aataagctcggatgtgattaGacttactcgaaatacgtcat	8	7	1	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:63978606G>A	uc003xux.1	-	3	441	c.409C>T	c.(409-411)CTA>TTA	p.L137L		NM_000370	NP_000361	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	137	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding				0	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GATGTGATTAGACTTACTCGA	0.373													A	63978606	G	A	63978606	2	1	103	1	0	0	0	0	0	0	0	1	16733	933	33	4		4	TTPA	8	63978606	Silent	SNP	G	TCGA-BR-8679-01A-11D-2394-08	35852	63978606	82385416	90	66529											
C8orf34	116328	broad.mit.edu	37	chr8	69728144	69728144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgatcttcttctttgcGttccatgctcttcttgtcct	6	14	5	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:69728144G>A	uc010lyz.2	+	13	1364	c.1315G>A	c.(1315-1317)GTT>ATT	p.V439I	C8orf34_uc003xyb.2_Missense_Mutation_p.V414I	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	439					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TCTTCTTTGCGTTCCATGCTC	0.448													A	69728144	G	A	69728144	3	1	103	1	0	0	0	0	1	0	0	0	2422	1145	40	1	1286	1	C8orf34	8	69728144	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	5749538	69728144	76635878	91	66530											
GDAP1	54332	broad.mit.edu	37	chr8	75263617	75263617	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgcgtttgaactcaactggaGaagtgcctgtccttatccac	9	11	1	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:75263617G>T	uc003yah.2	+	2	305	c.226G>T	c.(226-228)GAA>TAA	p.E76*	GDAP1_uc011lfj.1_Intron|GDAP1_uc003yai.2_Nonsense_Mutation_p.E8*	NM_018972	NP_061845	Q8TB36	GDAP1_HUMAN	ganglioside-induced differentiation-associated	76	GST N-terminal.					cytoplasm					0	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CTCAACTGGAGAAGTGCCTGT	0.438													T	75263617	G	T	75263617	4	4	103	1	0	0	0	0	0	1	0	0	6307	943	33	5	232	5	GDAP1	8	75263617	Nonsense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	5535473	75263617	71100405	92	66531											
ZFHX4	79776	broad.mit.edu	37	chr8	77763887	77763887	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaaagttttgcaggaagcctCcagtcctgtcccacaagaaa	8	11	0	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:77763887C>A	uc003yav.2	+	10	4982	c.4595C>A	c.(4594-4596)TCC>TAC	p.S1532Y	ZFHX4_uc003yau.1_Missense_Mutation_p.S1577Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.S1532Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1532						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGGAAGCCTCCAGTCCTGTC	0.418										HNSCC(33;0.089)			A	77763887	C	A	77763887	3	1	103	1	0	0	0	0	1	0	0	0	17632	855	30	5	4764	5	ZFHX4	8	77763887	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	2500270	77763887	68600135	93	66532											
GDF6	392255	broad.mit.edu	37	chr8	97156922	97156922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctgggcggggtggagcCggggtccatggagttcatca	19	9	2	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:97156922C>T	uc003yhp.2	-	2	1337	c.1237G>A	c.(1237-1239)GGC>AGC	p.G413S		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	413					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					GGGGTGGAGCCGGGGTCCATG	0.597													T	97156922	C	T	97156922	3	4	103	1	0	0	0	0	1	0	0	0	6317	652	23	1	134	1	GDF6	8	97156922	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	19393035	97156922	49207100	94	66533											
SPAG1	6674	broad.mit.edu	37	chr8	101195650	101195650	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaaactccaagggattaCgcggaatgggataagtatgt	12	5	0	1	rs74597335	by1000genomes	TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:101195650C>T	uc003yjh.1	+	5	560	c.474C>T	c.(472-474)TAC>TAT	p.Y158Y	SPAG1_uc003yjg.1_Silent_p.Y158Y|SPAG1_uc003yji.1_Silent_p.Y158Y	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	158					single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		CAAGGGATTACGCGGAATGGG	0.239													T	101195650	C	T	101195650	2	4	103	1	0	0	0	0	0	0	0	1	14975	547	19	1		1	SPAG1	8	101195650	Silent	SNP	C	TCGA-BR-8679-01A-11D-2394-08	4038728	101195650	45168372	95	66534											
CSMD3	114788	broad.mit.edu	37	chr8	113353899	113353899	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttctgtagaaaaatttacAaactggagatgtacacctga	8	6	1	3			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:113353899A>G	uc003ynu.2	-	42	6618	c.6459T>C	c.(6457-6459)TTT>TTC	p.F2153F	CSMD3_uc003yns.2_Silent_p.F1355F|CSMD3_uc003ynt.2_Silent_p.F2113F|CSMD3_uc011lhx.1_Silent_p.F2049F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2153	Extracellular (Potential).|CUB 12.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AAAAATTTACAAACTGGAGAT	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113353899	A	G	113353899	2	3	103	1	0	0	0	0	0	0	0	1	3946	127	5	3		3	CSMD3	8	113353899	Silent	SNP	A	TCGA-BR-8679-01A-11D-2394-08	12158249	113353899	33010123	96	66535											
MPDZ	8777	broad.mit.edu	37	chr9	13119520	13119520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttagcaaagcggcaaccGcttcttgggtggcattacga	11	11	1	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr9:13119520G>A	uc010mia.1	-	38	5417	c.5360C>T	c.(5359-5361)GCG>GTG	p.A1787V	MPDZ_uc003zkx.3_Missense_Mutation_p.A52V|MPDZ_uc003zky.3_Missense_Mutation_p.A321V|MPDZ_uc010mib.2_Missense_Mutation_p.A492V|MPDZ_uc010mhx.2_Missense_Mutation_p.A609V|MPDZ_uc011lmm.1_Missense_Mutation_p.A646V|MPDZ_uc003zkz.3_Missense_Mutation_p.A480V|MPDZ_uc010mhy.2_Missense_Mutation_p.A1787V|MPDZ_uc010mhz.2_Missense_Mutation_p.A1754V|MPDZ_uc011lmn.1_Missense_Mutation_p.A1754V|MPDZ_uc003zlb.3_Missense_Mutation_p.A1787V	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1787	PDZ 11.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		AGCGGCAACCGCTTCTTGGGT	0.388													A	13119520	G	A	13119520	3	1	103	1	0	0	0	0	1	0	0	0	9722	1087	38	1	797	1	MPDZ	9	13119520	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08		13119520	128093911	97	66536											
CEP78	84131	broad.mit.edu	37	chr9	80851395	80851395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctccgggagggcgtgctGgatttcaacgccgaccgcct	14	13	2	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr9:80851395G>A	uc004akx.2	+	1	405	c.129G>A	c.(127-129)CTG>CTA	p.L43L	CEP78_uc004aky.3_Silent_p.L43L|CEP78_uc010mpp.2_Silent_p.L43L|CEP78_uc011lsp.1_5'UTR	NM_032171	NP_115547	Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa isoform b	43					G2/M transition of mitotic cell cycle	centrosome|cytosol				ovary(1)	1						AGGGCGTGCTGGATTTCAACG	0.647													A	80851395	G	A	80851395	2	1	103	1	0	0	0	0	0	0	0	1	3262	1335	47	4		4	CEP78	9	80851395	Silent	SNP	G	TCGA-BR-8679-01A-11D-2394-08	67731875	80851395	60362036	98	66537											
FOXE1	2304	broad.mit.edu	37	chr9	100616626	100616626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagagcggcagcttcctgCgccgccgcaagcgcttcaag	13	15	1	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr9:100616626C>T	uc004axu.2	+	1	1090	c.430C>T	c.(430-432)CGC>TGC	p.R144C		NM_004473	NP_004464	O00358	FOXE1_HUMAN	forkhead box E1	144	Fork-head.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		Acute lymphoblastic leukemia(62;0.158)				CAGCTTCCTGCGCCGCCGCAA	0.562													T	100616626	C	T	100616626	3	4	103	1	0	0	0	0	1	0	0	0	6003	768	27	1	432	1	FOXE1	9	100616626	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	19765231	100616626	40596805	99	66538											
TGFBR1	7046	broad.mit.edu	37	chr9	101907101	101907101	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtattgcagacttaggacTggcagtaagacatgattcag	11	7	1	3			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr9:101907101T>C	uc004azc.2	+	6	1137	c.1061T>C	c.(1060-1062)CTG>CCG	p.L354P	TGFBR1_uc004azd.2_Missense_Mutation_p.L277P|TGFBR1_uc011lvc.1_Missense_Mutation_p.L285P	NM_004612	NP_004603	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor I	354	Protein kinase.|Cytoplasmic (Potential).				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			lung(2)|ovary(1)	3		Acute lymphoblastic leukemia(62;0.0559)				GACTTAGGACTGGCAGTAAGA	0.358													C	101907101	T	C	101907101	3	2	103	1	0	0	0	0	1	0	0	0	15818	1580	55	3	1083	3	TGFBR1	9	101907101	Missense_Mutation	SNP	T	TCGA-BR-8679-01A-11D-2394-08	1290475	101907101	39306330	100	66539											
SVEP1	79987	broad.mit.edu	37	chr9	113194198	113194199	+	Frame_Shift_Del	DEL	CA	CA	-													ctacatatattggttacctgCacagtttttcccatctcctg							TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr9:113194198_113194199delCA	uc010mtz.2	-	32	5686_5687	c.5349_5350delTG	c.(5347-5352)TGTGCAfs	p.C1783fs	SVEP1_uc010mty.2_5'Flank	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1783_1784	EGF-like 7; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TGGTTACCTGCACAGTTTTTCC	0.361													-	113194199	CA	-	113194198	7	5	103	1	0	1	0	1	0	0	0	0	15417	710	25	0	5433	0	SVEP1	9	113194198	Frame_Shift_Del	DEL	CA	TCGA-BR-8679-01A-11D-2394-08	11287097	113194198	28019233	101	66540											
TLR4	7099	broad.mit.edu	37	chr9	120475713	120475713	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcattccaatttgaaacAaatgagtgagttttcagtat	7	7	1	3			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr9:120475713A>G	uc004bjz.2	+	3	1598	c.1307A>G	c.(1306-1308)CAA>CGA	p.Q436R	TLR4_uc004bka.2_Missense_Mutation_p.Q396R|TLR4_uc004bkb.2_Missense_Mutation_p.Q236R	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	436	LRR 13.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						AATTTGAAACAAATGAGTGAG	0.373													G	120475713	A	G	120475713	3	3	103	1	0	0	0	0	1	0	0	0	15950	130	5	3	1317	3	TLR4	9	120475713	Missense_Mutation	SNP	A	TCGA-BR-8679-01A-11D-2394-08	7281515	120475713	20737718	102	66541											
ADARB2	105	broad.mit.edu	37	chr10	1405717	1405717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggtgcgcctggcaggCgttggggaactgcacgaagg	19	10	0	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr10:1405717C>T	uc009xhq.2	-	3	957	c.583G>A	c.(583-585)GCC>ACC	p.A195T		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	195					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCCTGGCAGGCGTTGGGGAAC	0.577													T	1405717	C	T	1405717	3	4	103	1	0	0	0	0	1	0	0	0	283	768	27	1	1668	1	ADARB2	10	1405717	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08		1405717	134129030	103	66542											
GDI2	2665	broad.mit.edu	37	chr10	5808111	5808111	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcatatgtgcgggaaataAagatctgaaaacaaaaatta	7	5	2	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr10:5808111A>C	uc001iil.3	-	11	1487	c.1196T>G	c.(1195-1197)TTT>TGT	p.F399C	GDI2_uc001iim.3_Missense_Mutation_p.F354C|GDI2_uc009xid.2_Missense_Mutation_p.F403C	NM_001494	NP_001485	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2 isoform 1	399					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity				0						GCGGGAAATAAAGATCTGAAA	0.403													C	5808111	A	C	5808111	3	2	103	1	0	0	0	0	1	0	0	0	6321	14	1	5	145	5	GDI2	10	5808111	Missense_Mutation	SNP	A	TCGA-BR-8679-01A-11D-2394-08	4402394	5808111	129726636	104	66543											
CUL2	8453	broad.mit.edu	37	chr10	35300856	35300856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttggagatacattttccGgtcctcatcaactgcacttc	7	12	2	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr10:35300856G>A	uc001ixv.2	-	20	2236	c.2026C>T	c.(2026-2028)CGG>TGG	p.R676W	CUL2_uc009xma.2_Missense_Mutation_p.R545W|CUL2_uc010qer.1_Missense_Mutation_p.R695W|CUL2_uc001ixw.2_Missense_Mutation_p.R676W	NM_003591	NP_003582	Q13617	CUL2_HUMAN	cullin 2	676					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			ovary(3)	3						TACATTTTCCGGTCCTCATCA	0.413													A	35300856	G	A	35300856	3	1	103	1	0	0	0	0	1	0	0	0	4055	1115	39	1	219	1	CUL2	10	35300856	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	29492745	35300856	100233891	105	66544											
RBP3	5949	broad.mit.edu	37	chr10	48390215	48390215	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacatccttgtcggcaccGtacctttctcccaggacctg	7	17	1	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr10:48390215G>A	uc001jez.2	-	1	777	c.663C>T	c.(661-663)TAC>TAT	p.Y221Y		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	221	4 X approximate tandem repeats.|1.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	TGTCGGCACCGTACCTTTCTC	0.622													A	48390215	G	A	48390215	2	1	103	1	0	0	0	0	0	0	0	1	13157	1140	40	1		1	RBP3	10	48390215	Silent	SNP	G	TCGA-BR-8679-01A-11D-2394-08	13089359	48390215	87144532	106	66545											
CTNNA3	29119	broad.mit.edu	37	chr10	68138997	68138997	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catttcacccgtgacgatgtGagcaactcttgctgcccggc	10	14	2	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr10:68138997G>A	uc009xpn.1	-	12	1768	c.1645C>T	c.(1645-1647)CAC>TAC	p.H549Y	CTNNA3_uc001jmw.2_Missense_Mutation_p.H549Y	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	549					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						GTGACGATGTGAGCAACTCTT	0.483													A	68138997	G	A	68138997	3	1	103	1	0	0	0	0	1	0	0	0	4014	1290	45	4	1070	4	CTNNA3	10	68138997	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	19748782	68138997	67395750	107	66546											
PDDC1	347862	broad.mit.edu	37	chr11	771346	771346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcaccactgaagcaggcGcccgaatccttcacgaagtc	10	15	2	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr11:771346G>A	uc001lrc.2	-	6	556	c.531C>T	c.(529-531)GGC>GGT	p.G177G	PDDC1_uc010qwm.1_Silent_p.G127G|PDDC1_uc001lrd.2_Silent_p.G177G|PDDC1_uc001lrf.1_3'UTR|PDDC1_uc001lrg.1_RNA|PDDC1_uc009ycg.2_Silent_p.G127G|PDDC1_uc010qwn.1_RNA|PDDC1_uc010qwo.1_RNA|PDDC1_uc010qwp.1_Silent_p.G141G|PDDC1_uc010qwq.1_Silent_p.G91G|PDDC1_uc010qwr.1_Silent_p.G177G|PDDC1_uc010qws.1_Silent_p.G127G	NM_182612	NP_872418	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	177						extracellular region					0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGAAGCAGGCGCCCGAATCCT	0.701													A	771346	G	A	771346	2	1	103	1	0	0	0	0	0	0	0	1	11629	1074	38	1		1	PDDC1	11	771346	Silent	SNP	G	TCGA-BR-8679-01A-11D-2394-08		771346	134235170	108	66547											
EIF3F	8665	broad.mit.edu	37	chr11	8009016	8009016	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggctgcggctccggttccCgctgcggctccagcctcatc	12	19	1	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr11:8009016C>T	uc001mfw.2	+	1	150	c.117C>T	c.(115-117)CCC>CCT	p.P39P	EIF3F_uc010rbj.1_5'UTR	NM_003754	NP_003745	O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3,	39						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(1)	1				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ctccggttcccgctgcggctc	0.338											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	8009016	C	T	8009016	2	4	103	1	0	0	0	0	0	0	0	1	5016	639	23	1		1	EIF3F	11	8009016	Silent	SNP	C	TCGA-BR-8679-01A-11D-2394-08	7237670	8009016	126997500	109	66548											
SLC22A11	55867	broad.mit.edu	37	chr11	64329769	64329769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccacgaccagcaggagggCggtcaccatgacggtggtgg	17	11	1	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr11:64329769C>T	uc001oai.2	+	4	1057	c.683C>T	c.(682-684)GCG>GTG	p.A228V	SLC22A11_uc001oah.1_Silent_p.G193G|SLC22A11_uc001oaj.2_Missense_Mutation_p.A228V|SLC22A11_uc009ypq.2_Missense_Mutation_p.A228V|SLC22A11_uc001oak.1_Missense_Mutation_p.A57V	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	228	Cytoplasmic (Potential).				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)	AGCAGGAGGGCGGTCACCATG	0.682													T	64329769	C	T	64329769	3	4	103	1	0	0	0	0	1	0	0	0	14442	768	27	1	697	1	SLC22A11	11	64329769	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	56320753	64329769	70676747	110	66549											
EFEMP2	30008	broad.mit.edu	37	chr11	65634395	65634395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccctcctgctcctcagaaGgtgtaggcccctacaaagac	8	16	1	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr11:65634395G>A	uc001ofy.3	-	11	1520	c.1326C>T	c.(1324-1326)ACC>ACT	p.T442T	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Intron	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	442					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		CTCCTCAGAAGGTGTAGGCCC	0.567													A	65634395	G	A	65634395	2	1	103	1	0	0	0	0	0	0	0	1	4942	987	35	4		4	EFEMP2	11	65634395	Silent	SNP	G	TCGA-BR-8679-01A-11D-2394-08	1304626	65634395	69372121	111	66550											
FAM181B	220382	broad.mit.edu	37	chr11	82444684	82444684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcccttgtccagggctcCgaaggcgccccctagcccgt	12	18	0	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr11:82444684C>T	uc001ozp.2	-	1	223	c.88G>A	c.(88-90)GGA>AGA	p.G30R		NM_175885	NP_787081	A6NEQ2	F181B_HUMAN	hypothetical protein LOC220382	30										large_intestine(1)	1						TCCAGGGCTCCGAAGGCGCCC	0.736													T	82444684	C	T	82444684	3	4	103	1	0	0	0	0	1	0	0	0	5509	661	23	1	1196	1	FAM181B	11	82444684	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	16810289	82444684	52561832	112	66551											
OR10G9	219870	broad.mit.edu	37	chr11	123894260	123894260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcactatttgtgtgatgcaCcgcccatcctgaaactggcc	9	13	0	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr11:123894260C>T	uc010sad.1	+	1	541	c.541C>T	c.(541-543)CCG>TCG	p.P181S		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G,	181	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTGTGATGCACCGCCCATCCT	0.532													T	123894260	C	T	123894260	3	4	103	1	0	0	0	0	1	0	0	0	10904	507	18	4	543	4	OR10G9	11	123894260	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	41449576	123894260	11112256	113	66552											
PARP11	57097	broad.mit.edu	37	chr12	3931156	3931156	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatattcatgtgtttgattgTgcagaggaataagctggaaa	11	3	1	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr12:3931156T>C	uc001qmk.1	-	5	465	c.410A>G	c.(409-411)CAC>CGC	p.H137R	PARP11_uc001qml.2_Missense_Mutation_p.H144R|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Missense_Mutation_p.H63R|PARP11_uc001qmn.2_Missense_Mutation_p.H63R	NM_020367	NP_065100	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	137	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			ovary(1)|central_nervous_system(1)	2			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TGTTTGATTGTGCAGAGGAAT	0.348													C	3931156	T	C	3931156	3	2	103	1	0	0	0	0	1	0	0	0	11456	1696	59	3	597	3	PARP11	12	3931156	Missense_Mutation	SNP	T	TCGA-BR-8679-01A-11D-2394-08		3931156	129920739	114	66553											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr12:25398285C>T	uc001rgp.1	-	2	215	c.34G>A	c.(34-36)GGT>AGT	p.G12S	KRAS_uc001rgq.1_Missense_Mutation_p.G12S|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25398285	C	T	25398285	3	4	103	1	0	0	0	0	1	0	0	0	8438	594	21	4	672	4	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	21467129	25398285	108453610	115	66554											
C12orf40	283461	broad.mit.edu	37	chr12	40077228	40077228	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaagaaaaatttgaaAatgattaccaagagaagaca	6	3	0	5			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr12:40077228A>G	uc001rmc.2	+	9	1395	c.1228A>G	c.(1228-1230)AAT>GAT	p.N410D	C12orf40_uc009zjv.1_RNA	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	hypothetical protein LOC283461	410										ovary(6)	6						AAAATTTGAAAATGATTACCA	0.289													G	40077228	A	G	40077228	3	3	103	1	0	0	0	0	1	0	0	0	1686	14	1	3	1262	3	C12orf40	12	40077228	Missense_Mutation	SNP	A	TCGA-BR-8679-01A-11D-2394-08	14678943	40077228	93774667	116	66555											
SDR9C7	121214	broad.mit.edu	37	chr12	57324037	57324037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagagaaggcctcaacgCcaaacttggagacgcagtag	12	10	2	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr12:57324037C>T	uc010sqw.1	-	2	533	c.533G>A	c.(532-534)GGC>GAC	p.G178D		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C,	178						cytoplasm	binding|oxidoreductase activity			central_nervous_system(1)	1						GGCCTCAACGCCAAACTTGGA	0.547													T	57324037	C	T	57324037	3	4	103	1	0	0	0	0	1	0	0	0	13974	739	26	2	420	2	SDR9C7	12	57324037	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	17246809	57324037	76527858	117	66556											
ZFC3H1	196441	broad.mit.edu	37	chr12	72036243	72036243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actggtttcactatctgtatCcatagcaacttcttcatagt	5	10	4	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr12:72036243C>T	uc001swo.2	-	6	1959	c.1600G>A	c.(1600-1602)GAT>AAT	p.D534N		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	534					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						CTATCTGTATCCATAGCAACT	0.368													T	72036243	C	T	72036243	3	4	103	1	0	0	0	0	1	0	0	0	17630	855	30	4	4489	4	ZFC3H1	12	72036243	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	14712206	72036243	61815652	118	66557											
FGD6	55785	broad.mit.edu	37	chr12	95502125	95502125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaatgtaaaatgcttaccCgaccaggctgcacaatttca	7	11	1	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr12:95502125C>T	uc001tdp.3	-	11	3487	c.3263G>A	c.(3262-3264)CGG>CAG	p.R1088Q	FGD6_uc009zsx.2_Missense_Mutation_p.R221Q|FGD6_uc001tdq.1_Missense_Mutation_p.R124Q	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1088					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|breast(1)	3						AATGCTTACCCGACCAGGCTG	0.343													T	95502125	C	T	95502125	3	4	103	1	0	0	0	0	1	0	0	0	5837	666	23	1	1073	1	FGD6	12	95502125	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	23465882	95502125	38349770	119	66558											
C12orf49	79794	broad.mit.edu	37	chr12	117157596	117157596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcctgcatttggccaggCacaactcaaagtgatcttcg	10	11	2	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr12:117157596C>T	uc001tvz.1	-	4	644	c.506G>A	c.(505-507)TGC>TAC	p.C169Y	C12orf49_uc009zwm.1_Missense_Mutation_p.C139Y	NM_024738	NP_079014	Q9H741	CL049_HUMAN	hypothetical protein LOC79794 precursor	169						extracellular region				ovary(1)	1	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		TTTGGCCAGGCACAACTCAAA	0.507													T	117157596	C	T	117157596	3	4	103	1	0	0	0	0	1	0	0	0	1693	710	25	2	119	2	C12orf49	12	117157596	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	21655471	117157596	16694299	120	66559											
TAOK3	51347	broad.mit.edu	37	chr12	118598020	118598020	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaatggcaagttttcttgtCtgctcatctttcagtgtctt	7	8	6	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr12:118598020C>T	uc001twx.2	-	19	2578	c.2283G>A	c.(2281-2283)CAG>CAA	p.Q761Q	TAOK3_uc001twv.2_Silent_p.Q301Q|TAOK3_uc001tww.2_Silent_p.Q591Q|TAOK3_uc001twy.3_Silent_p.Q761Q	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	761	Potential.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTTTTCTTGTCTGCTCATCTT	0.413													T	118598020	C	T	118598020	2	4	103	1	0	0	0	0	0	0	0	1	15546	912	32	4		4	TAOK3	12	118598020	Silent	SNP	C	TCGA-BR-8679-01A-11D-2394-08	1440424	118598020	15253875	121	66560											
GCN1L1	10985	broad.mit.edu	37	chr12	120613607	120613607	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggccgaagagtcactgcaCtggcgtgccaggttccgcag	14	12	1	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr12:120613607C>T	uc001txo.2	-	11	997	c.984G>A	c.(982-984)CAG>CAA	p.Q328Q		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	328	HEAT 2.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGTCACTGCACTGGCGTGCCA	0.582													T	120613607	C	T	120613607	2	4	103	1	0	0	0	0	0	0	0	1	6299	564	20	4		4	GCN1L1	12	120613607	Silent	SNP	C	TCGA-BR-8679-01A-11D-2394-08	2015587	120613607	13238288	122	66561											
LRRC43	254050	broad.mit.edu	37	chr12	122684793	122684793	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtcatcccctgcagttaCgagatgcagcactctctcag	10	13	3	1	rs141017122	by1000genomes	TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr12:122684793C>T	uc009zxm.2	+	8	1432	c.1407C>T	c.(1405-1407)TAC>TAT	p.Y469Y	LRRC43_uc001ubw.3_Silent_p.Y284Y|LRRC43_uc009zxn.2_Silent_p.Y230Y	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	469											0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCTGCAGTTACGAGATGCAGC	0.652													T	122684793	C	T	122684793	2	4	103	1	0	0	0	0	0	0	0	1	9001	547	19	1		1	LRRC43	12	122684793	Silent	SNP	C	TCGA-BR-8679-01A-11D-2394-08	2071186	122684793	11167102	123	66562											
ULK1	8408	broad.mit.edu	37	chr12	132403121	132403121	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggccccagcccctgagctCcctgctccaggacacggctg	12	18	0	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr12:132403121C>T	uc001uje.2	+	23	2674	c.2406C>T	c.(2404-2406)CTC>CTT	p.L802L		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	802					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCCCTGAGCTCCCTGCTCCAG	0.697													T	132403121	C	T	132403121	2	4	103	1	0	0	0	0	0	0	0	1	16972	842	30	4		4	ULK1	12	132403121	Silent	SNP	C	TCGA-BR-8679-01A-11D-2394-08	9718328	132403121	1448774	124	66563											
SACS	26278	broad.mit.edu	37	chr13	23905259	23905259	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagcactgtccctgctttgAgagctttcctcaggtcttga	11	11	2	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr13:23905259A>G	uc001uon.2	-	10	13345	c.12756T>C	c.(12754-12756)TCT>TCC	p.S4252S	SACS_uc001uoo.2_Silent_p.S4105S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4252					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.T4252S(1)		ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCCTGCTTTGAGAGCTTTCCT	0.433													G	23905259	A	G	23905259	2	3	103	1	0	0	0	0	0	0	0	1	13804	291	11	3		3	SACS	13	23905259	Silent	SNP	A	TCGA-BR-8679-01A-11D-2394-08		23905259	91264619	125	66564											
MTUS2	23281	broad.mit.edu	37	chr13	29855958	29855958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagtgtgacagcaccccGcaggagtttacttccagcgc	10	15	0	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr13:29855958G>A	uc001usl.3	+	4	2850	c.2792G>A	c.(2791-2793)CGC>CAC	p.R931H		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	921	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						ACAGCACCCCGCAGGAGTTTA	0.572													A	29855958	G	A	29855958	3	1	103	1	0	0	0	0	1	0	0	0	9966	1087	38	1	2806	1	MTUS2	13	29855958	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	5950699	29855958	85313920	126	66565											
TNFSF11	8600	broad.mit.edu	37	chr13	43175104	43175104	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctcactattaatgccacCgacatcccatctggtaagct	5	14	2	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr13:43175104C>T	uc001uyu.2	+	4	668	c.519C>T	c.(517-519)ACC>ACT	p.T173T	TNFSF11_uc001uyt.2_Silent_p.T100T	NM_003701	NP_003692	O14788	TNF11_HUMAN	tumor necrosis factor ligand superfamily, member	173	Extracellular (Potential).				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding				0		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		TTAATGCCACCGACATCCCAT	0.433													T	43175104	C	T	43175104	2	4	103	1	0	0	0	0	0	0	0	1	16299	639	23	1		1	TNFSF11	13	43175104	Silent	SNP	C	TCGA-BR-8679-01A-11D-2394-08	13319146	43175104	71994774	127	66566											
AP1G2	8906	broad.mit.edu	37	chr14	24033828	24033828	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtactgtctcaaacaggacCgcatttccggcatttcggct	9	12	1	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr14:24033828C>A	uc001wkl.2	-	9	1201	c.864G>T	c.(862-864)GCG>GCT	p.A288A	AP1G2_uc001wkj.2_5'UTR|AP1G2_uc001wkk.3_Silent_p.A216A|AP1G2_uc001wkn.2_5'UTR|uc001wko.1_Intron|AP1G2_uc001wkp.1_RNA|AP1G2_uc010tnp.1_Silent_p.A288A	NM_003917	NP_003908	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2	288					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			ovary(1)	1	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CAAACAGGACCGCATTTCCGG	0.547													A	24033828	C	A	24033828	2	1	103	1	0	0	0	0	0	0	0	1	733	639	23	5		5	AP1G2	14	24033828	Silent	SNP	C	TCGA-BR-8679-01A-11D-2394-08		24033828	83315712	128	66567											
ARHGAP5	394	broad.mit.edu	37	chr14	32561145	32561149	+	Frame_Shift_Del	DEL	GAGAA	GAGAA	-													atgtacagcatctgatatccGagaagaggagggtggaaatg							TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr14:32561145_32561149delGAGAA	uc001wrl.2	+	2	1509_1513	c.1270_1274delGAGAA	c.(1270-1275)GAGAAGfs	p.E424fs	ARHGAP5_uc001wrm.2_Frame_Shift_Del_p.E424fs|ARHGAP5_uc001wrn.2_Frame_Shift_Del_p.E424fs|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	424_425					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TCTGATATCCGAGAAGAGGAGGGTG	0.39													-	32561149	GAGAA	-	32561145	7	5	103	1	0	1	0	1	0	0	0	0	886	1059	37	0	1272	0	ARHGAP5	14	32561145	Frame_Shift_Del	DEL	GAGAA	TCGA-BR-8679-01A-11D-2394-08	8527317	32561145	74788395	129	66568											
SPATA7	55812	broad.mit.edu	37	chr14	88904415	88904415	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcaccaaaggatgagaacgaGatattcccttcaccaactga	8	11	1	3			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr14:88904415G>T	uc001xwq.2	+	12	1600	c.1449G>T	c.(1447-1449)GAG>GAT	p.E483D	SPATA7_uc001xwr.2_Missense_Mutation_p.E451D|SPATA7_uc001xws.2_Missense_Mutation_p.E419D|SPATA7_uc001xwt.2_Missense_Mutation_p.E377D|SPATA7_uc001xwu.2_Intron	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	spermatogenesis-associated protein 7 isoform a	483					response to stimulus|visual perception					ovary(1)	1						ATGAGAACGAGATATTCCCTT	0.338													T	88904415	G	T	88904415	3	4	103	1	0	0	0	0	1	0	0	0	15013	933	33	5	1495	5	SPATA7	14	88904415	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	56343270	88904415	18445125	130	66569											
GPR68	8111	broad.mit.edu	37	chr14	91700984	91700984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacgctgacgccgacggcCgccttcagggtccggaactg	13	16	1	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr14:91700984C>T	uc001xzg.2	-	2	752	c.411G>A	c.(409-411)GCG>GCA	p.A137A	GPR68_uc001xzh.2_Silent_p.A147A	NM_003485	NP_003476	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	137	Helical; Name=4; (Potential).				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)	1		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CGCCGACGGCCGCCTTCAGGG	0.627													T	91700984	C	T	91700984	2	4	103	1	0	0	0	0	0	0	0	1	6707	639	23	1		1	GPR68	14	91700984	Silent	SNP	C	TCGA-BR-8679-01A-11D-2394-08	2796569	91700984	15648556	131	66570											
SLC24A4	123041	broad.mit.edu	37	chr14	92949146	92949146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggtcaccttcatcaccGccacgctgtggatcgctgtg	10	14	4	0	rs138016047		TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr14:92949146G>A	uc001yak.2	+	13	1351	c.1327G>A	c.(1327-1329)GCC>ACC	p.A443T	SLC24A4_uc001yai.2_Missense_Mutation_p.A396T|SLC24A4_uc010twm.1_Missense_Mutation_p.A441T|SLC24A4_uc001yaj.2_Missense_Mutation_p.A424T|SLC24A4_uc010auj.2_Missense_Mutation_p.A332T|SLC24A4_uc010twn.1_Missense_Mutation_p.A216T|SLC24A4_uc001yan.2_Missense_Mutation_p.A154T	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	460	Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CTTCATCACCGCCACGCTGTG	0.522													A	92949146	G	A	92949146	3	1	103	1	0	0	0	0	1	0	0	0	14468	1087	38	1	1377	1	SLC24A4	14	92949146	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	1248162	92949146	14400394	132	66571											
PPP2R5C	5527	broad.mit.edu	37	chr14	102349794	102349794	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agagctctttgacagtgaagAtcctcgggagagagattttc	12	7	1	6			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr14:102349794A>T	uc001yko.2	+	5	664	c.524A>T	c.(523-525)GAT>GTT	p.D175V	PPP2R5C_uc010txr.1_Missense_Mutation_p.D206V|PPP2R5C_uc001ykk.2_Missense_Mutation_p.D230V|PPP2R5C_uc010txt.1_Missense_Mutation_p.D165V|PPP2R5C_uc001ykn.2_Missense_Mutation_p.D175V|PPP2R5C_uc001ykp.2_Missense_Mutation_p.D175V|PPP2R5C_uc001ykq.2_Missense_Mutation_p.D73V|uc001ykr.1_5'Flank	NM_002719	NP_002710	Q13362	2A5G_HUMAN	gamma isoform of regulatory subunit B56, protein	175					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity			ovary(1)|breast(1)	2						GACAGTGAAGATCCTCGGGAG	0.388													T	102349794	A	T	102349794	3	4	103	1	0	0	0	0	1	0	0	0	12394	333	12	5	911	5	PPP2R5C	14	102349794	Missense_Mutation	SNP	A	TCGA-BR-8679-01A-11D-2394-08	9400648	102349794	4999746	133	66572											
RYR3	6263	broad.mit.edu	37	chr15	34072507	34072507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taatcgctacaatccactctCggtcttcaacaccaaaaccc	3	16	3	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr15:34072507C>T	uc001zhi.2	+	65	9303	c.9233C>T	c.(9232-9234)TCG>TTG	p.S3078L	RYR3_uc010bar.2_Missense_Mutation_p.S3078L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3078					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AATCCACTCTCGGTCTTCAAC	0.557													T	34072507	C	T	34072507	3	4	103	1	0	0	0	0	1	0	0	0	13770	893	31	1	9491	1	RYR3	15	34072507	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08		34072507	68458885	134	66573											
PML	5371	broad.mit.edu	37	chr15	74315474	74315474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctggaggctgtggacgCgcggtaccagcgcgactacg	17	12	0	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr15:74315474C>T	uc002awv.2	+	3	1048	c.908C>T	c.(907-909)GCG>GTG	p.A303V	PML_uc002awm.2_Missense_Mutation_p.A303V|PML_uc002awl.2_Missense_Mutation_p.A303V|PML_uc002awj.1_Missense_Mutation_p.A303V|PML_uc002awk.2_Missense_Mutation_p.A303V|PML_uc002awn.2_Missense_Mutation_p.A303V|PML_uc002awo.2_Missense_Mutation_p.A303V|PML_uc002awp.2_Missense_Mutation_p.A303V|PML_uc002awq.2_Missense_Mutation_p.A303V|PML_uc002awr.2_Missense_Mutation_p.A303V|PML_uc002aws.2_Missense_Mutation_p.A303V|PML_uc002awt.2_Missense_Mutation_p.A303V|PML_uc002awu.2_Missense_Mutation_p.A303V|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.A218V|PML_uc002awx.2_Missense_Mutation_p.A61V|PML_uc002awy.2_5'Flank	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	303					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						GCTGTGGACGCGCGGTACCAG	0.716			T	RARA|PAX5	APL|ALL								T	74315474	C	T	74315474	3	4	103	1	0	0	0	0	1	0	0	0	12135	768	27	1	918	1	PML	15	74315474	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	40242967	74315474	28215918	135	66574											
ADAMTS17	170691	broad.mit.edu	37	chr15	100657064	100657064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctttaccgtcaaccaccaCggctgtcagcaggcctttct	8	16	3	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr15:100657064C>T	uc002bvv.1	-	13	1955	c.1876G>A	c.(1876-1878)GTG>ATG	p.V626M	ADAMTS17_uc002bvx.1_Missense_Mutation_p.V383M	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	626	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TCAACCACCACGGCTGTCAGC	0.612													T	100657064	C	T	100657064	3	4	103	1	0	0	0	0	1	0	0	0	262	536	19	1	1451	1	ADAMTS17	15	100657064	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	26341590	100657064	1874328	136	66575											
ADAMTS17	170691	broad.mit.edu	37	chr15	100695514	100695514	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgagtggtcatcgtcgtggTtcatgcccaagctgtccaag	12	10	2	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr15:100695514T>G	uc002bvv.1	-	9	1272	c.1193A>C	c.(1192-1194)AAC>ACC	p.N398T	ADAMTS17_uc002bvx.1_Missense_Mutation_p.N155T	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	398	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ATCGTCGTGGTTCATGCCCAA	0.537													G	100695514	T	G	100695514	3	3	103	1	0	0	0	0	1	0	0	0	262	1725	60	5	2150	5	ADAMTS17	15	100695514	Missense_Mutation	SNP	T	TCGA-BR-8679-01A-11D-2394-08	38450	100695514	1835878	137	66576											
TMEM8A	58986	broad.mit.edu	37	chr16	426761	426761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggctcccattggacacGcagtcccgcagctccagcag	10	18	0	0	rs146605667	byFrequency	TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr16:426761G>A	uc002cgu.3	-	5	816	c.687C>T	c.(685-687)TGC>TGT	p.C229C	TMEM8A_uc002cgv.3_Silent_p.C36C	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	229	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						CATTGGACACGCAGTCCCGCA	0.662													A	426761	G	A	426761	2	1	103	1	0	0	0	0	0	0	0	1	16211	1079	38	1		1	TMEM8A	16	426761	Silent	SNP	G	TCGA-BR-8679-01A-11D-2394-08		426761	89927992	138	66577											
SMG1	23049	broad.mit.edu	37	chr16	18827647	18827647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccatagctttcaagagatGtttgacatctccaagctgtc	8	10	2	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr16:18827647G>A	uc002dfm.2	-	58	10642	c.10279C>T	c.(10279-10281)CAT>TAT	p.H3427Y	SMG1_uc010bwb.2_Missense_Mutation_p.H3287Y|SMG1_uc010bwa.2_Missense_Mutation_p.H2158Y	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	3427					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						TTCAAGAGATGTTTGACATCT	0.358													A	18827647	G	A	18827647	3	1	103	1	0	0	0	0	1	0	0	0	14795	1377	48	4	730	4	SMG1	16	18827647	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	18400886	18827647	71527106	139	66578											
ACSM2A	123876	broad.mit.edu	37	chr16	20497994	20497994	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtccggaaaagcccgtgcGcagtgagacatctaagagac	12	10	1	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr16:20497994G>A	uc010bwe.2	+	15	1967	c.1728G>A	c.(1726-1728)GCG>GCA	p.A576A	ACSM2A_uc002dhf.3_Silent_p.A576A|ACSM2A_uc002dhg.3_Silent_p.A576A|ACSM2A_uc010vay.1_Silent_p.A497A|ACSM2A_uc002dhh.3_Silent_p.A206A|uc002dhi.1_5'Flank	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	576					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						AAGCCCGTGCGCAGTGAGACA	0.453													A	20497994	G	A	20497994	2	1	103	1	0	0	0	0	0	0	0	1	183	1074	38	1		1	ACSM2A	16	20497994	Silent	SNP	G	TCGA-BR-8679-01A-11D-2394-08	1670347	20497994	69856759	140	66579											
SLC5A11	115584	broad.mit.edu	37	chr16	24922747	24922747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcccggccagagcagaaGccatcatagtttccctggaa	10	13	1	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr16:24922747G>A	uc002dmu.2	+	16	2153	c.1921G>A	c.(1921-1923)GCC>ACC	p.A641T	SLC5A11_uc002dms.2_Missense_Mutation_p.A577T|SLC5A11_uc010vcd.1_Missense_Mutation_p.A606T|SLC5A11_uc002dmt.2_Missense_Mutation_p.A485T|SLC5A11_uc010vce.1_Missense_Mutation_p.A571T|SLC5A11_uc010bxt.2_Missense_Mutation_p.A577T|SLC5A11_uc002dmv.2_Missense_Mutation_p.A264T	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	641	Cytoplasmic (Potential).				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0365)		CAGAGCAGAAGCCATCATAGT	0.532													A	24922747	G	A	24922747	3	1	103	1	0	0	0	0	1	0	0	0	14663	971	34	2	1979	2	SLC5A11	16	24922747	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	4424753	24922747	65432006	141	66580											
NFAT5	10725	broad.mit.edu	37	chr16	69727007	69727007	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaactttttcatcctcaAaatcctattgccgatgctca	4	14	3	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr16:69727007A>C	uc002exm.1	+	12	4433	c.3225A>C	c.(3223-3225)CAA>CAC	p.Q1075H	NFAT5_uc002exi.2_Missense_Mutation_p.Q999H|NFAT5_uc002exj.1_Missense_Mutation_p.Q999H|NFAT5_uc002exk.1_Missense_Mutation_p.Q999H|NFAT5_uc002exl.1_Missense_Mutation_p.Q1093H|NFAT5_uc002exn.1_Missense_Mutation_p.Q1092H|NFAT5_uc002exo.1_RNA	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	1075					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						TTCATCCTCAAAATCCTATTG	0.418													C	69727007	A	C	69727007	3	2	103	1	0	0	0	0	1	0	0	0	10360	11	1	5	3329	5	NFAT5	16	69727007	Missense_Mutation	SNP	A	TCGA-BR-8679-01A-11D-2394-08	44804260	69727007	20627746	142	66581											
TP53	7157	broad.mit.edu	37	chr17	7579381	7579381	+	Frame_Shift_Del	DEL	G	G	-													aaaccgtagctgccctggtaGgttttctgggaagggacaga							TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr17:7579381delG	uc002gim.2	-	4	500	c.306delC	c.(304-306)ACCfs	p.T102fs	TP53_uc002gig.1_Frame_Shift_Del_p.T102fs|TP53_uc002gih.2_Frame_Shift_Del_p.T102fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.T102fs|TP53_uc010cni.1_Frame_Shift_Del_p.T102fs|TP53_uc002gij.2_Frame_Shift_Del_p.T102fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.T63fs|TP53_uc010cnk.1_Frame_Shift_Del_p.T117fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	102	Interaction with HIPK1 (By similarity).||Interaction with WWOX.		T -> I (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.T102I(7)|p.T102fs*21(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCCCTGGTAGGTTTTCTGGG	0.637		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			-	7579381	G	-	7579381	7	5	103	1	0	1	0	1	0	0	0	0	16378	987	35	0	996	0	TP53	17	7579381	Frame_Shift_Del	DEL	G	TCGA-BR-8679-01A-11D-2394-08		7579381	73615829	143	66582											
SUPT6H	6830	broad.mit.edu	37	chr17	27024707	27024707	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	catcctttgcccgggaccttCtgaatcacaagtattatcag	7	12	3	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr17:27024707C>G	uc002hby.2	+	31	4369	c.4279C>G	c.(4279-4281)CTG>GTG	p.L1427V	SUPT6H_uc010crt.2_Missense_Mutation_p.L1427V	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1427	SH2.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					CCGGGACCTTCTGAATCACAA	0.522													G	27024707	C	G	27024707	3	3	103	1	0	0	0	0	1	0	0	0	15397	912	32	5	4397	5	SUPT6H	17	27024707	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	19445326	27024707	54170503	144	66583											
PPM1D	8493	broad.mit.edu	37	chr17	58701061	58701061	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtgacacaggaccatAagccagaacttcccaaggaa	11	10	0	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr17:58701061A>G	uc002iyt.1	+	2	874	c.652A>G	c.(652-654)AAG>GAG	p.K218E	PPM1D_uc010ddm.1_RNA	NM_003620	NP_003611	O15297	PPM1D_HUMAN	protein phosphatase 1D	218	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			upper_aerodigestive_tract(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			ACAGGACCATAAGCCAGAACT	0.463													G	58701061	A	G	58701061	3	3	103	1	0	0	0	0	1	0	0	0	12337	363	13	3	658	3	PPM1D	17	58701061	Missense_Mutation	SNP	A	TCGA-BR-8679-01A-11D-2394-08	31676354	58701061	22494149	145	66584											
SCN4A	6329	broad.mit.edu	37	chr17	62018998	62018998	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcacagtctgggggcccGctgttgaggatggggttgag	20	7	2	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr17:62018998G>A	uc002jds.1	-	24	4721	c.4644C>T	c.(4642-4644)AGC>AGT	p.S1548S		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1548	IV.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	CTGGGGGCCCGCTGTTGAGGA	0.597													A	62018998	G	A	62018998	2	1	103	1	0	0	0	0	0	0	0	1	13920	1078	38	1		1	SCN4A	17	62018998	Silent	SNP	G	TCGA-BR-8679-01A-11D-2394-08	3317937	62018998	19176212	146	66585											
EMILIN2	84034	broad.mit.edu	37	chr18	2891281	2891281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaataaataacctccgagccCggctacaggagccttcagcc	8	14	1	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr18:2891281C>T	uc002kln.2	+	4	1315	c.1156C>T	c.(1156-1158)CGG>TGG	p.R386W		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	386	Potential.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)		CCTCCGAGCCCGGCTACAGGA	0.488													T	2891281	C	T	2891281	3	4	103	1	0	0	0	0	1	0	0	0	5094	643	23	1	1170	1	EMILIN2	18	2891281	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08		2891281	75185967	147	66586											
EPB41L3	23136	broad.mit.edu	37	chr18	5397280	5397280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catccccgctgtctcccgccGagtaagaagcatccccactc	7	19	1	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr18:5397280G>A	uc002kmt.1	-	18	2704	c.2618C>T	c.(2617-2619)TCG>TTG	p.S873L	EPB41L3_uc010wzh.1_Missense_Mutation_p.S704L|EPB41L3_uc002kmu.1_Missense_Mutation_p.S651L|EPB41L3_uc010dkq.1_Missense_Mutation_p.S542L|EPB41L3_uc002kms.1_Missense_Mutation_p.S108L|EPB41L3_uc010wze.1_Missense_Mutation_p.S178L|EPB41L3_uc010wzf.1_Missense_Mutation_p.S170L|EPB41L3_uc010wzg.1_Missense_Mutation_p.S145L|EPB41L3_uc010dkr.2_Missense_Mutation_p.S265L	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	873	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GTCTCCCGCCGAGTAAGAAGC	0.622													A	5397280	G	A	5397280	3	1	103	1	0	0	0	0	1	0	0	0	5154	1059	37	1	665	1	EPB41L3	18	5397280	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	2505999	5397280	72679968	148	66587											
RNF152	220441	broad.mit.edu	37	chr18	59483133	59483133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagaaatgcaagacatgttGtgaagcacgatgccgaggag	13	6	0	3			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr18:59483133G>A	uc002lih.1	-	2	976	c.564C>T	c.(562-564)CAC>CAT	p.H188H		NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	ring finger protein 152	188					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)	1		Colorectal(73;0.186)				AAGACATGTTGTGAAGCACGA	0.562													A	59483133	G	A	59483133	2	1	103	1	0	0	0	0	0	0	0	1	13453	1368	48	4		4	RNF152	18	59483133	Silent	SNP	G	TCGA-BR-8679-01A-11D-2394-08	54085853	59483133	18594115	149	66588											
TSHZ1	10194	broad.mit.edu	37	chr18	72997563	72997563	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactccccagtcagctctgcGactaaccaggacgccggcta	9	16	2	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr18:72997563G>A	uc002lly.2	+	2	629	c.66G>A	c.(64-66)GCG>GCA	p.A22A		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	67	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TCAGCTCTGCGACTAACCAGG	0.557													A	72997563	G	A	72997563	2	1	103	1	0	0	0	0	0	0	0	1	16620	1045	37	1		1	TSHZ1	18	72997563	Silent	SNP	G	TCGA-BR-8679-01A-11D-2394-08	13514430	72997563	5079685	150	66589											
C19orf26	255057	broad.mit.edu	37	chr19	1231232	1231232	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctcctgctccgtgctctcaCtggctgcccgctgccgctgg	11	19	1	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr19:1231232C>G	uc002lrm.2	-	9	1279	c.1004G>C	c.(1003-1005)AGT>ACT	p.S335T		NM_152769	NP_689982	Q8N350	DOS_HUMAN	downstream of Stk11	361						integral to membrane					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGCTCTCACTGGCTGCCCG	0.706										HNSCC(14;0.022)			G	1231232	C	G	1231232	3	3	103	1	0	0	0	0	1	0	0	0	1916	565	20	5	343	5	C19orf26	19	1231232	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08		1231232	57897751	151	66590											
CPAMD8	27151	broad.mit.edu	37	chr19	17068679	17068679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacctgatgttgagacaatGccaaatccatgtttcgggga	11	8	0	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr19:17068679G>A	uc002nfb.2	-	19	2433	c.2401C>T	c.(2401-2403)CAT>TAT	p.H801Y		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	754						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TTGAGACAATGCCAAATCCAT	0.403													A	17068679	G	A	17068679	3	1	103	1	0	0	0	0	1	0	0	0	3795	1319	46	2	3493	2	CPAMD8	19	17068679	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	15837447	17068679	42060304	152	66591											
NCAN	1463	broad.mit.edu	37	chr19	19359647	19359647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggccaccattcgatgccGgagcaatggcaagtgggaca	14	10	0	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr19:19359647G>A	uc002nlz.2	+	14	3875	c.3776G>A	c.(3775-3777)CGG>CAG	p.R1259Q	NCAN_uc002nma.2_Missense_Mutation_p.G15R	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	1259	Sushi.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			ATTCGATGCCGGAGCAATGGC	0.502													A	19359647	G	A	19359647	3	1	103	1	0	0	0	0	1	0	0	0	10204	1116	39	1	3826	1	NCAN	19	19359647	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	2290968	19359647	39769336	153	66592											
ATP4A	495	broad.mit.edu	37	chr19	36051409	36051409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgggccgccaggatgcGgatgtcggcgggcactctgt	17	13	1	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr19:36051409G>A	uc002oal.1	-	6	672	c.643C>T	c.(643-645)CGC>TGC	p.R215C	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	215	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GCCAGGATGCGGATGTCGGCG	0.627													A	36051409	G	A	36051409	3	1	103	1	0	0	0	0	1	0	0	0	1145	1116	39	1	2532	1	ATP4A	19	36051409	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	16691762	36051409	23077574	154	66593											
CYP2S1	29785	broad.mit.edu	37	chr19	41712326	41712326	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccgtcagtggccttttcaAcattcccccagccttccagc	6	18	2	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr19:41712326A>G	uc002opw.2	+	9	1503	c.1448A>G	c.(1447-1449)AAC>AGC	p.N483S	CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_Missense_Mutation_p.N208S	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S,	483					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			skin(1)	1						GGCCTTTTCAACATTCCCCCA	0.602													G	41712326	A	G	41712326	3	3	103	1	0	0	0	0	1	0	0	0	4174	43	2	3	1482	3	CYP2S1	19	41712326	Missense_Mutation	SNP	A	TCGA-BR-8679-01A-11D-2394-08	5660917	41712326	17416657	155	66594											
PSG3	5671	broad.mit.edu	37	chr19	43233295	43233295	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagagactttgactgtcatgGatttggagctttccatgcca	10	9	1	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr19:43233295G>T	uc002oue.2	-	5	1355	c.1223C>A	c.(1222-1224)TCC>TAC	p.S408Y	PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Missense_Mutation_p.S408Y|PSG3_uc010eil.2_Missense_Mutation_p.S430Y	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	408	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				GACTGTCATGGATTTGGAGCT	0.463													T	43233295	G	T	43233295	3	4	103	1	0	0	0	0	1	0	0	0	12656	1174	41	5	71	5	PSG3	19	43233295	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	1520969	43233295	15895688	156	66595											
SLC8A2	6543	broad.mit.edu	37	chr19	47933453	47933453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcttgggtccgcgcgggcCgcccagctcgccgccgatgt	16	16	0	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr19:47933453C>T	uc002pgx.2	-	10	2937	c.2659G>A	c.(2659-2661)GGC>AGC	p.G887S	SLC8A2_uc010xyq.1_Missense_Mutation_p.G643S|SLC8A2_uc010xyr.1_Missense_Mutation_p.G350S|SLC8A2_uc010ele.2_Missense_Mutation_p.R913Q	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	887	Extracellular (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGCGCGGGCCGCCCAGCTCG	0.701													T	47933453	C	T	47933453	3	4	103	1	0	0	0	0	1	0	0	0	14707	652	23	1	110	1	SLC8A2	19	47933453	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	4700158	47933453	11195530	157	66596											
SNPH	9751	broad.mit.edu	37	chr20	1277819	1277819	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgtgagcgtgcgggaTgcctacggcacctcttcgct	12	15	1	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr20:1277819T>A	uc002wes.2	+	4	317	c.81T>A	c.(79-81)GAT>GAA	p.D27E	SNPH_uc002wet.2_Missense_Mutation_p.D71E	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	27					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						GCGTGCGGGATGCCTACGGCA	0.637													A	1277819	T	A	1277819	3	1	103	1	0	0	0	0	1	0	0	0	14850	1461	51	5	87	5	SNPH	20	1277819	Missense_Mutation	SNP	T	TCGA-BR-8679-01A-11D-2394-08		1277819	61747701	158	66597											
C20orf194	25943	broad.mit.edu	37	chr20	3262288	3262288	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccatatcctgtatctaccTgtgctccatgtagcagctca	6	14	2	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr20:3262288T>A	uc002wii.2	-	28	2662	c.2611A>T	c.(2611-2613)AGA>TGA	p.R871*	C20orf194_uc002wij.3_Nonsense_Mutation_p.R610*|C20orf194_uc002wik.2_Nonsense_Mutation_p.R545*	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	871											0						TGTATCTACCTGTGCTCCATG	0.488													A	3262288	T	A	3262288	4	1	103	1	0	0	0	0	0	1	0	0	2099	1594	55	5	962	5	C20orf194	20	3262288	Nonsense_Mutation	SNP	T	TCGA-BR-8679-01A-11D-2394-08	1984469	3262288	59763232	159	66598											
MAVS	57506	broad.mit.edu	37	chr20	3846340	3846340	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctttcccaggagaccccagCagctccaacacccgccggcg	9	19	1	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr20:3846340C>G	uc002wjw.3	+	7	1338	c.1169C>G	c.(1168-1170)GCA>GGA	p.A390G	MAVS_uc002wjx.3_Missense_Mutation_p.A249G|MAVS_uc002wjy.3_Missense_Mutation_p.A88G	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	390	Cytoplasmic (Probable).				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0						GAGACCCCAGCAGCTCCAACA	0.637													G	3846340	C	G	3846340	3	3	103	1	0	0	0	0	1	0	0	0	9338	710	25	5	1191	5	MAVS	20	3846340	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	584052	3846340	59179180	160	66599											
KIF16B	55614	broad.mit.edu	37	chr20	16359862	16359862	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agggcctctgtcaagaatttCaaatgctctctgcttttctt	7	10	5	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr20:16359862C>T	uc002wpg.1	-	19	2943	c.2785G>A	c.(2785-2787)GAA>AAA	p.E929K	KIF16B_uc002wpe.1_Missense_Mutation_p.E311K|KIF16B_uc002wpf.1_Missense_Mutation_p.E311K|KIF16B_uc010gch.1_Missense_Mutation_p.E929K|KIF16B_uc010gci.1_Missense_Mutation_p.E929K|KIF16B_uc010gcj.1_Missense_Mutation_p.E940K	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	929	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						TCAAGAATTTCAAATGCTCTC	0.438													T	16359862	C	T	16359862	3	4	103	1	0	0	0	0	1	0	0	0	8278	835	29	4	1200	4	KIF16B	20	16359862	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	12513522	16359862	46665658	161	66600											
CST8	10047	broad.mit.edu	37	chr20	23472384	23472384	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggaaagacccaaaaaagaAtgagacaggggtgctgagga	14	6	0	4			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr20:23472384A>G	uc002wth.1	+	2	437	c.80A>G	c.(79-81)AAT>AGT	p.N27S		NM_005492	NP_005483	O60676	CST8_HUMAN	cystatin 8 precursor	27						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CCAAAAAAGAATGAGACAGGG	0.537													G	23472384	A	G	23472384	3	3	103	1	0	0	0	0	1	0	0	0	3978	101	4	3	82	3	CST8	20	23472384	Missense_Mutation	SNP	A	TCGA-BR-8679-01A-11D-2394-08	7112522	23472384	39553136	162	66601											
C20orf114	92747	broad.mit.edu	37	chr20	31889103	31889103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taactctgcagcttccctgaCaatgcccaccctggacaaca	6	16	1	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr20:31889103C>T	uc002wyw.1	+	9	973	c.812C>T	c.(811-813)ACA>ATA	p.T271I	C20orf114_uc002wyx.1_5'Flank	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	LPLUNC1 protein precursor	271						extracellular space	lipid binding			central_nervous_system(2)|skin(2)	4						GCTTCCCTGACAATGCCCACC	0.522													T	31889103	C	T	31889103	3	4	103	1	0	0	0	0	1	0	0	0	2082	478	17	4	842	4	C20orf114	20	31889103	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	8416719	31889103	31136417	163	66602											
TGIF2	60436	broad.mit.edu	37	chr20	35207182	35207182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctagcccctaggcaccatgtCggacagtgatctaggtgagg	13	11	1	2			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr20:35207182C>T	uc002xfn.2	+	2	178	c.5C>T	c.(4-6)TCG>TTG	p.S2L	C20orf24_uc002xfo.2_Missense_Mutation_p.S2L	NM_021809	NP_068581	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	2						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)|skin(1)	2	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGCACCATGTCGGACAGTGAT	0.597													T	35207182	C	T	35207182	3	4	103	1	0	0	0	0	1	0	0	0	15823	893	31	1	7	1	TGIF2	20	35207182	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	3318079	35207182	27818338	164	66603											
SLC32A1	140679	broad.mit.edu	37	chr20	37357184	37357184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccaagtcttcttcgacGtcgccatcttcgtcatcggc	9	15	4	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr20:37357184G>A	uc002xjc.2	+	2	1743	c.1480G>A	c.(1480-1482)GTC>ATC	p.V494I		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	494	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTTCTTCGACGTCGCCATCTT	0.647													A	37357184	G	A	37357184	3	1	103	1	0	0	0	0	1	0	0	0	14565	1145	40	1	1486	1	SLC32A1	20	37357184	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	2150002	37357184	25668336	165	66604											
RBM38	55544	broad.mit.edu	37	chr20	55982810	55982810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctacagctaccctgccGccgtgccccaggccctctca	10	19	1	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr20:55982810G>A	uc010zzj.1	+	4	803	c.628G>A	c.(628-630)GCC>ACC	p.A210T	RBM38_uc010zzk.1_3'UTR	NM_017495	NP_059965	Q9H0Z9	RBM38_HUMAN	RNA-binding region containing protein 1 isoform	210					3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|cytosol|nucleus|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding				0	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			CTACCCTGCCGCCGTGCCCCA	0.697													A	55982810	G	A	55982810	3	1	103	1	0	0	0	0	1	0	0	0	13132	1087	38	1	401	1	RBM38	20	55982810	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	18625626	55982810	7042710	166	66605											
COL9A3	1299	broad.mit.edu	37	chr20	61468510	61468510	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggtcggcccggtccagctgGcccccctgggcccccaggac	14	19	0	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr20:61468510G>C	uc002ydm.2	+	30	1682	c.1679G>C	c.(1678-1680)GGC>GCC	p.G560A	COL9A3_uc002ydn.2_Missense_Mutation_p.G54A	NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	560	Triple-helical region 2 (COL2).				axon guidance	collagen type IX					0	Breast(26;5.68e-08)					GGTCCAGCTGGCCCCCCTGGG	0.672													C	61468510	G	C	61468510	3	2	103	1	0	0	0	0	1	0	0	0	3709	1203	42	5	1797	5	COL9A3	20	61468510	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	5485700	61468510	1557010	167	66606											
FBLN1	2192	broad.mit.edu	37	chr22	45937242	45937242	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctcaacgaggagggaacGcgctgtgttggttggtatta	14	7	1	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr22:45937242G>A	uc003bgj.1	+	9	1203	c.1056G>A	c.(1054-1056)ACG>ACA	p.T352T	FBLN1_uc003bgg.1_Silent_p.T352T|FBLN1_uc003bgh.2_Silent_p.T352T|FBLN1_uc010gzz.2_Silent_p.T390T|FBLN1_uc003bgi.1_Silent_p.T352T	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	352	EGF-like 4; calcium-binding (Potential).				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AGGAGGGAACGCGCTGTGTTG	0.527													A	45937242	G	A	45937242	2	1	103	1	0	0	0	0	0	0	0	1	5698	1074	38	1		1	FBLN1	22	45937242	Silent	SNP	G	TCGA-BR-8679-01A-11D-2394-08		45937242	5367324	168	66607											
MIOX	55586	broad.mit.edu	37	chr22	50927478	50927478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctctgcagtgggctgtcGtcggcgacaccttccccgtc	11	17	1	0	rs146378961		TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr22:50927478G>A	uc003bll.1	+	6	532	c.418G>A	c.(418-420)GTC>ATC	p.V140I	MIOX_uc003blm.1_Missense_Mutation_p.V140I|MIOX_uc003bln.1_Silent_p.S150S	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	140					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity				0		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGGGCTGTCGTCGGCGACAC	0.657													A	50927478	G	A	50927478	3	1	103	1	0	0	0	0	1	0	0	0	9590	1145	40	1	440	1	MIOX	22	50927478	Missense_Mutation	SNP	G	TCGA-BR-8679-01A-11D-2394-08	4990236	50927478	377088	169	66608											
MXRA5	25878	broad.mit.edu	37	chrX	3235214	3235214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccaggggtcccccgaggCgctgcagtccagcttgaggg	17	14	0	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chrX:3235214C>T	uc004crg.3	-	6	6665	c.6508G>A	c.(6508-6510)GCC>ACC	p.A2170T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2170	Ig-like C2-type 6.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCCCCGAGGCGCTGCAGTCC	0.662													T	3235214	C	T	3235214	3	4	103	1	0	0	0	0	1	0	0	0	10003	768	27	1	1986	1	MXRA5	23	3235214	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08		3235214	152035346	170	66609											
NLGN4X	57502	broad.mit.edu	37	chrX	5821835	5821835	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaatatccgagtgtacTtggccggctggtagttcact	11	11	1	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chrX:5821835T>G	uc010ndh.2	-	5	1385	c.884A>C	c.(883-885)AAG>ACG	p.K295T	NLGN4X_uc004crp.2_Missense_Mutation_p.K315T|NLGN4X_uc004crq.2_Missense_Mutation_p.K295T|NLGN4X_uc010ndi.2_Missense_Mutation_p.K332T|NLGN4X_uc004crr.2_Missense_Mutation_p.K295T|NLGN4X_uc010ndj.2_Missense_Mutation_p.K295T	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	295	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						CCGAGTGTACTTGGCCGGCTG	0.552													G	5821835	T	G	5821835	3	3	103	1	0	0	0	0	1	0	0	0	10464	1609	56	5	1574	5	NLGN4X	23	5821835	Missense_Mutation	SNP	T	TCGA-BR-8679-01A-11D-2394-08	2586621	5821835	149448725	171	66610											
WNK3	65267	broad.mit.edu	37	chrX	54328235	54328235	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttttgacgaatacatccttCaatgatttctttgacttcag	6	8	3	3			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chrX:54328235C>T	uc004dtd.1	-	6	1586	c.1147G>A	c.(1147-1149)GAA>AAA	p.E383K	WNK3_uc004dtc.1_Missense_Mutation_p.E383K	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	383	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						ATACATCCTTCAATGATTTCT	0.358													T	54328235	C	T	54328235	3	4	103	1	0	0	0	0	1	0	0	0	17376	835	29	4	4331	4	WNK3	23	54328235	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	48506400	54328235	100942325	172	66611											
PHKA1	5255	broad.mit.edu	37	chrX	71864212	71864212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctagccaatctccttacCtaggctggaataaatgtggc	10	10	1	0			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chrX:71864212C>T	uc004eax.3	-	14	1760	c.1459G>A	c.(1459-1461)GGA>AGA	p.G487R	PHKA1_uc004eay.3_Missense_Mutation_p.G487R|PHKA1_uc011mqi.1_Missense_Mutation_p.G487R	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	487					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					ATCTCCTTACCTAGGCTGGAA	0.408													T	71864212	C	T	71864212	3	4	103	1	0	0	0	0	1	0	0	0	11843	695	24	4	2288	4	PHKA1	23	71864212	Missense_Mutation	SNP	C	TCGA-BR-8679-01A-11D-2394-08	17535977	71864212	83406348	173	66612											
FGF13	2258	broad.mit.edu	37	chrX	137717619	137717619	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccacaatatcaaatgtaccTttcagtggtttaggcagaaa	7	9	2	1			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chrX:137717619T>C	uc004fam.2	-	4	1262	c.600A>G	c.(598-600)AAA>AAG	p.K200K	FGF13_uc004fan.2_Silent_p.K147K|FGF13_uc011mwi.1_Silent_p.K181K|FGF13_uc004faq.2_Silent_p.K210K|FGF13_uc004far.2_Silent_p.K181K|FGF13_uc011mwj.1_Silent_p.K210K|FGF13_uc011mwk.1_Silent_p.K154K	NM_004114	NP_004105	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 1	200					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					CAAATGTACCTTTCAGTGGTT	0.303													C	137717619	T	C	137717619	2	2	103	1	0	0	0	0	0	0	0	1	5842	1623	56	3		3	FGF13	23	137717619	Silent	SNP	T	TCGA-BR-8679-01A-11D-2394-08	65853407	137717619	17552941	174	66613											
FMR1	2332	broad.mit.edu	37	chrX	147011748	147011748	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataatgagaaatgaagaagcTagtaagcagctggaggtatg	13	3	0	3			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chrX:147011748T>G	uc010nst.2	+	7	804	c.615T>G	c.(613-615)GCT>GCG	p.A205A	FMR1_uc011mwz.1_Silent_p.A205A|FMR1_uc004fcj.2_Silent_p.A205A|FMR1_uc004fck.3_Silent_p.A205A|FMR1_uc004fcl.3_Silent_p.A66A|FMR1_uc011mxa.1_5'UTR	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	205					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAAGAAGCTAGTAAGCAGC	0.443									Fragile_X_syndrome				G	147011748	T	G	147011748	2	3	103	1	0	0	0	0	0	0	0	1	5960	1509	53	5		5	FMR1	23	147011748	Silent	SNP	T	TCGA-BR-8679-01A-11D-2394-08	9294129	147011748	8258812	175	66614											
KLHL17	339451	broad.mit.edu	37	chr1	899373	899373	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacccggaggcgctatgtgCgagtggccacgcttggtggg	18	11	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:899373C>T	uc001aca.1	+	9	1536	c.1429C>T	c.(1429-1431)CGA>TGA	p.R477*	KLHL17_uc001acc.1_RNA|PLEKHN1_uc001acd.2_5'Flank|PLEKHN1_uc001acf.2_5'Flank|PLEKHN1_uc001ace.2_5'Flank	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	kelch-like 17	477	Interaction with F-actin (By similarity).|Kelch 3.				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCGCTATGTGCGAGTGGCCAC	0.687													T	899373	C	T	899373	4	4	104	1	0	0	0	0	0	1	0	0	8372	760	27	1	1463	1	KLHL17	1	899373	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08		899373	248351248	1	66615											
AGRN	375790	broad.mit.edu	37	chr1	981387	981387	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggagatgcgctgtgagttCggtgcgcggtgcgtggagga	21	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:981387C>T	uc001ack.1	+	16	2774	c.2724C>T	c.(2722-2724)TTC>TTT	p.F908F		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	908					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCTGTGAGTTCGGTGCGCGGT	0.657													T	981387	C	T	981387	2	4	104	1	0	0	0	0	0	0	0	1	397	883	31	1		1	AGRN	1	981387	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	82014	981387	248269234	2	66616											
CCNL2	81669	broad.mit.edu	37	chr1	1326209	1326209	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctctggctggaaccgcacGaagacgtcggtgcgaaggct	14	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:1326209G>A	uc001afi.2	-	6	728	c.696C>T	c.(694-696)TTC>TTT	p.F232F	CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Silent_p.F10F|CCNL2_uc001afg.1_Silent_p.F10F|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	cyclin L2 isoform A	232	Cyclin-like 2.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GGAACCGCACGAAGACGTCGG	0.557													A	1326209	G	A	1326209	2	1	104	1	0	0	0	0	0	0	0	1	2932	1049	37	1		1	CCNL2	1	1326209	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	344822	1326209	247924412	3	66617											
KIAA1751	85452	broad.mit.edu	37	chr1	1903425	1903425	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcgggggcctacccggttCgcggagatgctgcccttcag	15	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:1903425C>T	uc001aim.1	-	9	1038	c.882G>A	c.(880-882)GCG>GCA	p.A294A	KIAA1751_uc009vkz.1_Silent_p.A294A	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	294										pancreas(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CTACCCGGTTCGCGGAGATGC	0.677													T	1903425	C	T	1903425	2	4	104	1	0	0	0	0	0	0	0	1	8256	871	31	1		1	KIAA1751	1	1903425	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	577216	1903425	247347196	4	66618											
PRDM16	63976	broad.mit.edu	37	chr1	3319387	3319387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccgctgtgacgagtgtgacGaactcttccagtccaagctg	11	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:3319387G>A	uc001akf.2	+	6	789	c.709G>A	c.(709-711)GAA>AAA	p.E237K	PRDM16_uc001akc.2_Missense_Mutation_p.E237K|PRDM16_uc001akd.2_Missense_Mutation_p.E237K|PRDM16_uc001ake.2_Missense_Mutation_p.E237K|PRDM16_uc009vlh.2_5'UTR	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	237	C2H2-type 1; atypical.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGAGTGTGACGAACTCTTCCA	0.617			T	EVI1	MDS|AML								A	3319387	G	A	3319387	3	1	104	1	0	0	0	0	1	0	0	0	12457	1059	37	1	731	1	PRDM16	1	3319387	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1415962	3319387	245931234	5	66619											
PRDM16	63976	broad.mit.edu	37	chr1	3328013	3328013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcacaagcggatgcacgccGactgccgcacgcagatcaag	13	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:3328013G>A	uc001akf.2	+	9	1332	c.1252G>A	c.(1252-1254)GAC>AAC	p.D418N	PRDM16_uc001akc.2_Missense_Mutation_p.D418N|PRDM16_uc001akd.2_Missense_Mutation_p.D418N|PRDM16_uc001ake.2_Missense_Mutation_p.D418N|PRDM16_uc009vlh.2_Missense_Mutation_p.D119N	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	418					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GATGCACGCCGACTGCCGCAC	0.567			T	EVI1	MDS|AML								A	3328013	G	A	3328013	3	1	104	1	0	0	0	0	1	0	0	0	12457	1058	37	1	1286	1	PRDM16	1	3328013	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	8626	3328013	245922608	6	66620											
MEGF6	1953	broad.mit.edu	37	chr1	3428235	3428235	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggcctcacagctgttcacGatttccatctcaatccctgc	6	15	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:3428235G>A	uc001akl.2	-	9	1220	c.993C>T	c.(991-993)ATC>ATT	p.I331I	MEGF6_uc001akk.2_Silent_p.I226I	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	331						extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		AGCTGTTCACGATTTCCATCT	0.627													A	3428235	G	A	3428235	2	1	104	1	0	0	0	0	0	0	0	1	9462	1048	37	1		1	MEGF6	1	3428235	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	100222	3428235	245822386	7	66621											
NOL9	79707	broad.mit.edu	37	chr1	6586025	6586025	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaagtttaaaattgtaAtccgttgtgacataaggtac	9	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:6586025A>G	uc001ans.2	-	12	2017	c.1998T>C	c.(1996-1998)GAT>GAC	p.D666D	NOL9_uc010nzs.1_RNA	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	666					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			skin(1)	1	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		TAAAATTGTAATCCGTTGTGA	0.463													G	6586025	A	G	6586025	2	3	104	1	0	0	0	0	0	0	0	1	10528	98	4	3		3	NOL9	1	6586025	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	3157790	6586025	242664596	8	66622											
TAS1R1	80835	broad.mit.edu	37	chr1	6634952	6634952	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctctgcccaggtgggcgatGagaggatgcagtgcctcatg	15	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:6634952G>T	uc001ant.2	+	3	760	c.760G>T	c.(760-762)GAG>TAG	p.E254*	TAS1R1_uc001anu.2_Intron|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_Nonsense_Mutation_p.E254*	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	254	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)		GGTGGGCGATGAGAGGATGCA	0.617													T	6634952	G	T	6634952	4	4	104	1	0	0	0	0	0	1	0	0	15559	1291	45	5	770	5	TAS1R1	1	6634952	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	48927	6634952	242615669	9	66623											
ZBTB48	3104	broad.mit.edu	37	chr1	6647651	6647651	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtgtgggcaccgggcctcGagccggaatggcctgcagat	17	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:6647651G>A	uc009vmc.1	+	7	1461	c.1338G>A	c.(1336-1338)TCG>TCA	p.S446S	ZBTB48_uc001anx.2_Silent_p.S446S|ZBTB48_uc009vmd.1_Silent_p.S446S|ZBTB48_uc001any.1_Silent_p.S84S	NM_005341	NP_005332	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	446	C2H2-type 6.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		ACCGGGCCTCGAGCCGGAATG	0.617													A	6647651	G	A	6647651	2	1	104	1	0	0	0	0	0	0	0	1	17546	1045	37	1		1	ZBTB48	1	6647651	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	12699	6647651	242602970	10	66624											
PHF13	148479	broad.mit.edu	37	chr1	6676920	6676920	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcccttatccgaaggaggTaatcttctgagtttctgaga	9	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:6676920T>C	uc001aob.3	+	2	512	c.141_splice	c.e2+2	p.E47_splice		NM_153812	NP_722519	Q86YI8	PHF13_HUMAN	PHD finger protein 13						cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|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;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		CCGAAGGAGGTAATCTTCTGA	0.507													C	6676920	T	C	6676920	5	2	104	1	0	0	0	0	0	0	1	0	11824	1652	57	3	149	3	PHF13	1	6676920	Splice_Site	SNP	T	TCGA-BR-8680-01A-11D-2394-08	29269	6676920	242573701	11	66625											
CAMTA1	23261	broad.mit.edu	37	chr1	7725121	7725121	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgagcagctcggagggCggggccagcaccatggccta	16	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:7725121C>T	uc001aoi.2	+	9	2721	c.2514C>T	c.(2512-2514)GGC>GGT	p.G838G		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	838					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCTCGGAGGGCGGGGCCAGCA	0.701													T	7725121	C	T	7725121	2	4	104	1	0	0	0	0	0	0	0	1	2613	755	27	1		1	CAMTA1	1	7725121	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1048201	7725121	241525500	12	66626											
CAMTA1	23261	broad.mit.edu	37	chr1	7806101	7806101	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtctgatcatgaacagagaGaactctatgaggctgccagg	12	8	3	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:7806101G>T	uc001aoi.2	+	18	4774	c.4567G>T	c.(4567-4569)GAA>TAA	p.E1523*	CAMTA1_uc001aok.3_Nonsense_Mutation_p.E566*|CAMTA1_uc001aoj.2_Nonsense_Mutation_p.E479*|CAMTA1_uc009vmf.2_Nonsense_Mutation_p.E113*	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGAACAGAGAGAACTCTATGA	0.473													T	7806101	G	T	7806101	4	4	104	1	0	0	0	0	0	1	0	0	2613	943	33	5	4637	5	CAMTA1	1	7806101	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	80980	7806101	241444520	13	66627											
PER3	8863	broad.mit.edu	37	chr1	7863754	7863754	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttattattttatatagttTtgaagtatgcagggcatcct	7	5	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:7863754T>C	uc001aoo.2	+	9	1154	c.979T>C	c.(979-981)TTG>CTG	p.L327L	PER3_uc009vmg.1_Silent_p.L328L|PER3_uc009vmh.1_Silent_p.L328L|PER3_uc001aop.2_Silent_p.L328L|PER3_uc010nzw.1_Silent_p.L9L|PER3_uc001aon.2_Silent_p.L327L	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	327	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTATATAGTTTTGAAGTATGC	0.333													C	7863754	T	C	7863754	2	2	104	1	0	0	0	0	0	0	0	1	11731	1838	64	3		3	PER3	1	7863754	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	57653	7863754	241386867	14	66628											
PER3	8863	broad.mit.edu	37	chr1	7863904	7863904	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcattggtcggcataaagttCgaacgtaagccagtcagttt	10	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:7863904C>T	uc001aoo.2	+	9	1304	c.1129C>T	c.(1129-1131)CGA>TGA	p.R377*	PER3_uc009vmg.1_Nonsense_Mutation_p.R378*|PER3_uc009vmh.1_Nonsense_Mutation_p.R378*|PER3_uc001aop.2_Nonsense_Mutation_p.R378*|PER3_uc010nzw.1_Nonsense_Mutation_p.R59*|PER3_uc001aon.2_Nonsense_Mutation_p.R377*	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	377	PAC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GCATAAAGTTCGAACGTAAGC	0.388													T	7863904	C	T	7863904	4	4	104	1	0	0	0	0	0	1	0	0	11731	876	31	1	1163	1	PER3	1	7863904	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	150	7863904	241386717	15	66629											
UTS2	10911	broad.mit.edu	37	chr1	7907902	7907902	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agattctggccaaaagatgaCtcagtaaaatgttaggatct	9	6	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:7907902C>A	uc001aor.2	-	4	340	c.299G>T	c.(298-300)AGT>ATT	p.S100I	UTS2_uc001aoq.2_Missense_Mutation_p.S100I|UTS2_uc001aos.2_Missense_Mutation_p.S115I	NM_006786	NP_006777	O95399	UTS2_HUMAN	urotensin 2 isoform b preproprotein	100					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity				0	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		CAAAAGATGACTCAGTAAAAT	0.368													A	7907902	C	A	7907902	3	1	104	1	0	0	0	0	1	0	0	0	17101	565	20	5	79	5	UTS2	1	7907902	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	43998	7907902	241342719	16	66630											
TNFRSF9	3604	broad.mit.edu	37	chr1	7998864	7998864	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagggactgcaaatctgaTtcctgttattatcacagaat	8	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:7998864T>G	uc001aot.2	-	3	253	c.125A>C	c.(124-126)AAT>ACT	p.N42T		NM_001561	NP_001552	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily,	42	Extracellular (Potential).|TNFR-Cys 1.				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GCAAATCTGATTCCTGTTATT	0.433													G	7998864	T	G	7998864	3	3	104	1	0	0	0	0	1	0	0	0	16297	1493	52	5	666	5	TNFRSF9	1	7998864	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	90962	7998864	241251757	17	66631											
SLC2A7	155184	broad.mit.edu	37	chr1	9079302	9079302	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcaccactcgggaaaagacGatcagctcaaaagccttggc	10	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:9079302G>A	uc009vmo.1	-	4	402	c.402C>T	c.(400-402)ATC>ATT	p.I134I		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	intestinal facilitative glucose transporter 7	134	Extracellular (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity				0	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GGGAAAAGACGATCAGCTCAA	0.582													A	9079302	G	A	9079302	2	1	104	1	0	0	0	0	0	0	0	1	14550	1048	37	1		1	SLC2A7	1	9079302	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1080438	9079302	240171319	18	66632											
H6PD	9563	broad.mit.edu	37	chr1	9305498	9305498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcccgggcgcctggctgCgggttgtccttgagaaaccc	15	14	0	1	rs35668164		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:9305498C>T	uc001apt.2	+	2	778	c.505C>T	c.(505-507)CGG>TGG	p.R169W		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	169	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding				0	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CGCCTGGCTGCGGGTTGTCCT	0.597													T	9305498	C	T	9305498	3	4	104	1	0	0	0	0	1	0	0	0	6936	759	27	1	507	1	H6PD	1	9305498	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	226196	9305498	239945123	19	66633											
PIK3CD	5293	broad.mit.edu	37	chr1	9780235	9780235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccaacacggatagcgccGctgccctgctcatctgcctg	9	18	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:9780235G>A	uc001aqb.3	+	11	1613	c.1405G>A	c.(1405-1407)GCT>ACT	p.A469T	PIK3CD_uc010oaf.1_Missense_Mutation_p.A469T|PIK3CD_uc001aqe.3_Missense_Mutation_p.A434T	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	469					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(4)|skin(2)|central_nervous_system(1)	7	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GGATAGCGCCGCTGCCCTGCT	0.672													A	9780235	G	A	9780235	3	1	104	1	0	0	0	0	1	0	0	0	11915	1087	38	1	1439	1	PIK3CD	1	9780235	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	474737	9780235	239470386	20	66634											
RBP7	116362	broad.mit.edu	37	chr1	10068312	10068312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggctggacccattggatcGaaggagacaaactccacctg	12	11	0	1	rs145127190	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:10068312G>A	uc001aqq.2	+	3	396	c.334G>A	c.(334-336)GAA>AAA	p.E112K	RBP7_uc009vms.2_RNA	NM_052960	NP_443192	Q96R05	RET7_HUMAN	retinol binding protein 7, cellular	112						cytoplasm	retinal binding|retinol binding|transporter activity				0		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|BRCA - Breast invasive adenocarcinoma(304;0.000302)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00856)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CCATTGGATCGAAGGAGACAA	0.378													A	10068312	G	A	10068312	3	1	104	1	0	0	0	0	1	0	0	0	13160	1059	37	1	344	1	RBP7	1	10068312	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	288077	10068312	239182309	21	66635											
KIF1B	23095	broad.mit.edu	37	chr1	10423363	10423363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcgagtcactggcatttacGaactcagcttatgcaaaatg	8	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:10423363G>A	uc001aqx.3	+	41	4529	c.4327G>A	c.(4327-4329)GAA>AAA	p.E1443K	KIF1B_uc001aqw.3_Missense_Mutation_p.E1397K|KIF1B_uc001aqy.2_Missense_Mutation_p.E1417K|KIF1B_uc001aqz.2_Missense_Mutation_p.E1443K|KIF1B_uc001ara.2_Missense_Mutation_p.E1403K|KIF1B_uc001arb.2_Missense_Mutation_p.E1429K	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	1443					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGGCATTTACGAACTCAGCTT	0.343													A	10423363	G	A	10423363	3	1	104	1	0	0	0	0	1	0	0	0	8284	1059	37	1	5828	1	KIF1B	1	10423363	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	355051	10423363	238827258	22	66636											
PGD	5226	broad.mit.edu	37	chr1	10460491	10460491	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtctccaaagttgatgatttCttggccaatgaggcaaaggg	12	7	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:10460491C>A	uc001arc.2	+	3	216	c.126C>A	c.(124-126)TTC>TTA	p.F42L	PGD_uc001ard.2_5'UTR|PGD_uc010oak.1_Missense_Mutation_p.F42L|PGD_uc010oal.1_Missense_Mutation_p.F29L	NM_002631	NP_002622	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	42					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			ovary(1)	1	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		TTGATGATTTCTTGGCCAATG	0.502													A	10460491	C	A	10460491	3	1	104	1	0	0	0	0	1	0	0	0	11787	912	32	5	136	5	PGD	1	10460491	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	37128	10460491	238790130	23	66637											
PGD	5226	broad.mit.edu	37	chr1	10473290	10473290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccgccctggaatacggcGtacccgtcaccctcattggt	9	16	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:10473290G>A	uc001arc.2	+	8	916	c.826G>A	c.(826-828)GTA>ATA	p.V276I	PGD_uc001ard.2_Missense_Mutation_p.V196I|PGD_uc010oak.1_Missense_Mutation_p.V254I|PGD_uc010oal.1_Missense_Mutation_p.V263I	NM_002631	NP_002622	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	276					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			ovary(1)	1	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		GGAATACGGCGTACCCGTCAC	0.542													A	10473290	G	A	10473290	3	1	104	1	0	0	0	0	1	0	0	0	11787	1145	40	1	856	1	PGD	1	10473290	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	12799	10473290	238777331	24	66638											
PEX14	5195	broad.mit.edu	37	chr1	10687419	10687419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaaagggcttcttttaaatCggtaggagggaggaatgggg	17	3	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:10687419C>T	uc001arn.2	+	8	697	c.676C>T	c.(676-678)CGG>TGG	p.R226W	PEX14_uc009vmv.2_Missense_Mutation_p.R162W|PEX14_uc010oam.1_Missense_Mutation_p.R162W|PEX14_uc010oan.1_Missense_Mutation_p.R183W|PEX14_uc009vmw.2_Missense_Mutation_p.R162W	NM_004565	NP_004556	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	226					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(1)	1	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TCTTTTAAATCGGTAGGAGGG	0.567													T	10687419	C	T	10687419	3	4	104	1	0	0	0	0	1	0	0	0	11742	898	31	1	706	1	PEX14	1	10687419	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	214129	10687419	238563202	25	66639											
MTOR	2475	broad.mit.edu	37	chr1	11169375	11169375	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatctcgaaccctgttaatAatctggatagctttcttatt	5	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:11169375A>C	uc001asd.2	-	56	7621	c.7500T>G	c.(7498-7500)ATT>ATG	p.I2500M	MTOR_uc001asc.2_Missense_Mutation_p.I705M	NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	2500	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						CCCTGTTAATAATCTGGATAG	0.408													C	11169375	A	C	11169375	3	2	104	1	0	0	0	0	1	0	0	0	9954	358	13	5	161	5	MTOR	1	11169375	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	481956	11169375	238081246	26	66640											
MTOR	2475	broad.mit.edu	37	chr1	11298651	11298651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaatgatccgcacagtggcGaacaaattgggtcagagagt	13	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:11298651G>A	uc001asd.2	-	12	1931	c.1810C>T	c.(1810-1812)CGC>TGC	p.R604C		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	604					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						GCACAGTGGCGAACAAATTGG	0.537													A	11298651	G	A	11298651	3	1	104	1	0	0	0	0	1	0	0	0	9954	1058	37	1	6027	1	MTOR	1	11298651	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	129276	11298651	237951970	27	66641											
PTCHD2	57540	broad.mit.edu	37	chr1	11580781	11580781	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcatcttgtccctggtgttCgccagccggctccgccccgc	10	19	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:11580781C>T	uc001ash.3	+	10	2376	c.2238C>T	c.(2236-2238)TTC>TTT	p.F746F	PTCHD2_uc001asi.1_Silent_p.F746F	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	746	Helical; (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCCTGGTGTTCGCCAGCCGGC	0.662													T	11580781	C	T	11580781	2	4	104	1	0	0	0	0	0	0	0	1	12733	883	31	1		1	PTCHD2	1	11580781	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	282130	11580781	237669840	28	66642											
PTCHD2	57540	broad.mit.edu	37	chr1	11586750	11586750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcaccaagaagctgaccGcttgtatgtctacagtaggg	10	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:11586750G>A	uc001ash.3	+	13	2794	c.2656G>A	c.(2656-2658)GCT>ACT	p.A886T	PTCHD2_uc001asi.1_Missense_Mutation_p.A886T	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	886	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GAAGCTGACCGCTTGTATGTC	0.587													A	11586750	G	A	11586750	3	1	104	1	0	0	0	0	1	0	0	0	12733	1087	38	1	2702	1	PTCHD2	1	11586750	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5969	11586750	237663871	29	66643											
C1orf187	374946	broad.mit.edu	37	chr1	11772432	11772432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactctccagtgatggtaacGaaacatcaccagccgaaggg	10	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:11772432G>A	uc001asr.1	+	5	933	c.793G>A	c.(793-795)GAA>AAA	p.E265K		NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	chromosome 1 open reading frame 187 precursor	265					axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region					0	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)		TGATGGTAACGAAACATCACC	0.567													A	11772432	G	A	11772432	3	1	104	1	0	0	0	0	1	0	0	0	2021	1059	37	1	807	1	C1orf187	1	11772432	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	185682	11772432	237478189	30	66644											
MTHFR	4524	broad.mit.edu	37	chr1	11851348	11851348	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgccccaagtgacagcattCggctgcagttcaggggcatt	12	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:11851348C>T	uc001atc.1	-	11	1852	c.1668G>A	c.(1666-1668)CCG>CCA	p.P556P	MTHFR_uc001atb.1_Silent_p.P579P	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	556					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	TGACAGCATTCGGCTGCAGTT	0.587													T	11851348	C	T	11851348	2	4	104	1	0	0	0	0	0	0	0	1	9931	871	31	1		1	MTHFR	1	11851348	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	78916	11851348	237399273	31	66645											
PLOD1	5351	broad.mit.edu	37	chr1	12024810	12024810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accacagcaagctggaccccGacatggccttctgtgccaac	9	16	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:12024810G>A	uc001atm.2	+	13	1529	c.1438G>A	c.(1438-1440)GAC>AAC	p.D480N	PLOD1_uc010obb.1_Missense_Mutation_p.D527N	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	lysyl hydroxylase 1 precursor	480					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			ovary(2)|breast(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCTGGACCCCGACATGGCCTT	0.612													A	12024810	G	A	12024810	3	1	104	1	0	0	0	0	1	0	0	0	12101	1058	37	1	1488	1	PLOD1	1	12024810	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	173462	12024810	237225811	32	66646											
VPS13D	55187	broad.mit.edu	37	chr1	12328891	12328891	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaatccgcaggccattaaaAaagtagcagactttttctac	6	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:12328891A>C	uc001atv.2	+	16	2071	c.1930A>C	c.(1930-1932)AAA>CAA	p.K644Q	VPS13D_uc001atw.2_Missense_Mutation_p.K644Q	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	644					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGCCATTAAAAAAGTAGCAGA	0.398													C	12328891	A	C	12328891	3	2	104	1	0	0	0	0	1	0	0	0	17189	15	1	5	1988	5	VPS13D	1	12328891	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	304081	12328891	236921730	33	66647											
VPS13D	55187	broad.mit.edu	37	chr1	12337735	12337735	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaatgaaatatatgggtttGacctagcttcgtctcatttg	8	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:12337735G>T	uc001atv.2	+	19	4231	c.4090G>T	c.(4090-4092)GAC>TAC	p.D1364Y	VPS13D_uc001atw.2_Missense_Mutation_p.D1364Y|VPS13D_uc001atx.2_Missense_Mutation_p.D552Y	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1364					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATATGGGTTTGACCTAGCTTC	0.433													T	12337735	G	T	12337735	3	4	104	1	0	0	0	0	1	0	0	0	17189	1290	45	5	4160	5	VPS13D	1	12337735	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	8844	12337735	236912886	34	66648											
VPS13D	55187	broad.mit.edu	37	chr1	12395786	12395786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtatgtaagtaccaaggaatCgtggatggcagattactgta	12	5	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:12395786C>T	uc001atv.2	+	39	8594	c.8453C>T	c.(8452-8454)TCG>TTG	p.S2818L	VPS13D_uc001atw.2_Missense_Mutation_p.S2818L|VPS13D_uc001atx.2_Missense_Mutation_p.S2006L|VPS13D_uc001aty.1_Missense_Mutation_p.S556L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2818					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACCAAGGAATCGTGGATGGCA	0.408													T	12395786	C	T	12395786	3	4	104	1	0	0	0	0	1	0	0	0	17189	893	31	1	8603	1	VPS13D	1	12395786	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	58051	12395786	236854835	35	66649											
VPS13D	55187	broad.mit.edu	37	chr1	12433865	12433865	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccattacctgtgcggagctCgttttggatgtctcacccaa	10	12	1	0	rs145410334		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:12433865C>T	uc001atv.2	+	55	11010	c.10869C>T	c.(10867-10869)CTC>CTT	p.L3623L	VPS13D_uc001atw.2_Silent_p.L3598L|VPS13D_uc001atx.2_Silent_p.L2810L|VPS13D_uc009vnl.2_RNA	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3622					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GTGCGGAGCTCGTTTTGGATG	0.323													T	12433865	C	T	12433865	2	4	104	1	0	0	0	0	0	0	0	1	17189	871	31	1		1	VPS13D	1	12433865	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	38079	12433865	236816756	36	66650											
AADACL4	343066	broad.mit.edu	37	chr1	12711190	12711190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctccatgcccaaatttattCgttttttacatgatagcgtg	7	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:12711190C>T	uc001auf.2	+	2	217	c.217C>T	c.(217-219)CGT>TGT	p.R73C		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	73	Lumenal (Potential).					integral to membrane	carboxylesterase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CAAATTTATTCGTTTTTTACA	0.458													T	12711190	C	T	12711190	3	4	104	1	0	0	0	0	1	0	0	0	13	884	31	1	223	1	AADACL4	1	12711190	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	277325	12711190	236539431	37	66651											
PRAMEF12	390999	broad.mit.edu	37	chr1	12837573	12837573	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggtgctctctgctggggaaGattttctcaacttggggctg	15	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:12837573G>T	uc001aui.2	+	3	1310	c.1283G>T	c.(1282-1284)AGA>ATA	p.R428I		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	428										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTGGGGAAGATTTTCTCAA	0.567													T	12837573	G	T	12837573	3	4	104	1	0	0	0	0	1	0	0	0	12428	942	33	5	1293	5	PRAMEF12	1	12837573	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	126383	12837573	236413048	38	66652											
LOC649330	649330	broad.mit.edu	37	chr1	12907715	12907715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgatagacgttgacgtttcGagggcactacagccagagca	12	10	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:12907715G>A	uc009vno.2	-	1	523	c.428C>T	c.(427-429)TCG>TTG	p.S143L	HNRNPCL1_uc010obf.1_Missense_Mutation_p.S143L	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	143							nucleic acid binding|nucleotide binding				0						TTGACGTTTCGAGGGCACTAC	0.483													A	12907715	G	A	12907715	3	1	104	1	0	0	0	0	1	0	0	0	8885	1059	37	1	457	1	LOC649330	1	12907715	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	70142	12907715	236342906	39	66653											
PRAMEF2	65122	broad.mit.edu	37	chr1	12920008	12920008	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcattacacgtcagataatGaactcgagggatggttagtc	10	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:12920008G>T	uc001aum.1	+	3	835	c.748G>T	c.(748-750)GAA>TAA	p.E250*		NM_023014	NP_075390	O60811	PRAM2_HUMAN	PRAME family member 2	250											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAGATAATGAACTCGAGGG	0.438													T	12920008	G	T	12920008	4	4	104	1	0	0	0	0	0	1	0	0	12435	1291	45	5	754	5	PRAMEF2	1	12920008	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	12293	12920008	236330613	40	66654											
PRAMEF6	440561	broad.mit.edu	37	chr1	13001306	13001306	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgttcctcttggcattgAggaagcacccacgggccata	10	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:13001306A>C	uc001auq.2	-	3	463	c.377T>G	c.(376-378)CTC>CGC	p.L126R	PRAMEF5_uc001aur.2_Intron	NM_001010889	NP_001010889	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	126											0	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGGCATTGAGGAAGCACCC	0.498													C	13001306	A	C	13001306	3	2	104	1	0	0	0	0	1	0	0	0	12438	304	11	5	1061	5	PRAMEF6	1	13001306	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	81298	13001306	236249315	41	66655											
PDPN	10630	broad.mit.edu	37	chr1	13936969	13936969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccacgcgcaagaacaaagtCcaagcgccacagcctcaaac	7	16	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:13936969C>T	uc001avd.2	+	3	566	c.517C>T	c.(517-519)CCA>TCA	p.P173S	PDPN_uc001avc.2_Missense_Mutation_p.P173S|PDPN_uc009vob.2_Missense_Mutation_p.P55S|PDPN_uc009voc.2_Missense_Mutation_p.P55S|PDPN_uc001ave.2_Missense_Mutation_p.P55S|PDPN_uc001avf.2_Missense_Mutation_p.P55S	NM_006474	NP_006465	Q86YL7	PDPN_HUMAN	lung type-I cell membrane-associated	97	Extracellular (Potential).				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				ovary(2)	2	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		AGAACAAAGTCCAAGCGCCAC	0.512													T	13936969	C	T	13936969	3	4	104	1	0	0	0	0	1	0	0	0	11688	855	30	4	527	4	PDPN	1	13936969	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	935663	13936969	235313652	42	66656											
PDPN	10630	broad.mit.edu	37	chr1	13940804	13940804	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcttgttcagatggtttgtCaacagtgaccctggttggaa	11	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:13940804C>T	uc001avd.2	+	5	657	c.608C>T	c.(607-609)TCA>TTA	p.S203L	PDPN_uc001avc.2_Missense_Mutation_p.S203L|PDPN_uc009vob.2_Missense_Mutation_p.S85L|PDPN_uc009voc.2_Missense_Mutation_p.S85L|PDPN_uc001ave.2_Missense_Mutation_p.S85L|PDPN_uc001avf.2_Missense_Mutation_p.S85L	NM_006474	NP_006465	Q86YL7	PDPN_HUMAN	lung type-I cell membrane-associated	127	Extracellular (Potential).				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				ovary(2)	2	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		GATGGTTTGTCAACAGTGACC	0.423													T	13940804	C	T	13940804	3	4	104	1	0	0	0	0	1	0	0	0	11688	838	29	4	626	4	PDPN	1	13940804	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3835	13940804	235309817	43	66657											
PRDM2	7799	broad.mit.edu	37	chr1	14106701	14106701	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatgctttgatgaatataAaatgtctaaagagtggacag	9	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:14106701A>C	uc001avi.2	+	8	3267	c.2411A>C	c.(2410-2412)AAA>ACA	p.K804T	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.K804T|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.K561T|PRDM2_uc001avk.2_Missense_Mutation_p.K603T|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	804						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GATGAATATAAAATGTCTAAA	0.448													C	14106701	A	C	14106701	3	2	104	1	0	0	0	0	1	0	0	0	12458	14	1	5	2437	5	PRDM2	1	14106701	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	165897	14106701	235143920	44	66658											
PRDM2	7799	broad.mit.edu	37	chr1	14108921	14108921	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctcaggccccacccaagTcccacttccctcctcatcct	4	22	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:14108921T>C	uc001avi.2	+	8	5487	c.4631T>C	c.(4630-4632)GTC>GCC	p.V1544A	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.V1544A|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.V1343A|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1544						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CCCACCCAAGTCCCACTTCCC	0.547													C	14108921	T	C	14108921	3	2	104	1	0	0	0	0	1	0	0	0	12458	1667	58	3	4657	3	PRDM2	1	14108921	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2220	14108921	235141700	45	66659											
KAZ	23254	broad.mit.edu	37	chr1	15441017	15441017	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcagcaaagatcccgatttCcatgatgactatggctctct	8	11	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:15441017C>T	uc001avm.3	+	15	2495	c.2214C>T	c.(2212-2214)TTC>TTT	p.F738F	C1orf126_uc001avv.3_RNA|C1orf126_uc009voh.2_RNA|KAZ_uc001avs.3_Silent_p.F185F	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	738					keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0						ATCCCGATTTCCATGATGACT	0.507													T	15441017	C	T	15441017	2	4	104	1	0	0	0	0	0	0	0	1	7988	854	30	4		4	KAZ	1	15441017	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1332096	15441017	233809604	46	66660											
TMEM51	55092	broad.mit.edu	37	chr1	15541819	15541819	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggggtgatgctgctgctgcTttctatctgcctgagtatca	12	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:15541819T>G	uc001avw.3	+	3	755	c.236T>G	c.(235-237)CTT>CGT	p.L79R	TMEM51_uc010obk.1_Missense_Mutation_p.L79R|TMEM51_uc001avz.2_Missense_Mutation_p.L79R|TMEM51_uc001avy.2_Missense_Mutation_p.L79R|TMEM51_uc001avx.2_Missense_Mutation_p.L79R	NM_001136216	NP_001129688	Q9NW97	TMM51_HUMAN	transmembrane protein 51	79	Helical; (Potential).					integral to membrane					0		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CTGCTGCTGCTTTCTATCTGC	0.642													G	15541819	T	G	15541819	3	3	104	1	0	0	0	0	1	0	0	0	16174	1609	56	5	238	5	TMEM51	1	15541819	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	100802	15541819	233708802	47	66661											
CELA2B	51032	broad.mit.edu	37	chr1	15809762	15809762	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccgcactcacccaggaaCgacattgccctgctcaaact	6	18	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:15809762C>T	uc001awl.2	+	5	385	c.360C>T	c.(358-360)AAC>AAT	p.N120N		NM_015849	NP_056933	P08218	CEL2B_HUMAN	elastase 2B preproprotein	120	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						CACCCAGGAACGACATTGCCC	0.587													T	15809762	C	T	15809762	2	4	104	1	0	0	0	0	0	0	0	1	3212	535	19	1		1	CELA2B	1	15809762	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	267943	15809762	233440859	48	66662											
DNAJC16	23341	broad.mit.edu	37	chr1	15874828	15874828	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatatgtgggtttgagagggAcggaagagatgacaaggcgg	18	3	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:15874828A>G	uc001aws.2	+	7	1048	c.928A>G	c.(928-930)ACG>GCG	p.T310A	DNAJC16_uc001awr.1_Missense_Mutation_p.T310A|DNAJC16_uc001awt.2_5'UTR	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	310	Cytoplasmic (Potential).				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			urinary_tract(1)|lung(1)|kidney(1)	3		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TTTGAGAGGGACGGAAGAGAT	0.403													G	15874828	A	G	15874828	3	3	104	1	0	0	0	0	1	0	0	0	4635	275	10	3	950	3	DNAJC16	1	15874828	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	65066	15874828	233375793	49	66663											
DDI2	84301	broad.mit.edu	37	chr1	15964914	15964914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatggacatcctgtgaaaGcctttgttgactcaggtgac	11	8	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:15964914G>A	uc001awx.1	+	5	841	c.745G>A	c.(745-747)GCC>ACC	p.A249T	DDI2_uc009voj.1_Intron	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	DNA-damage inducible protein 2	249					proteolysis		aspartic-type endopeptidase activity				0		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TCCTGTGAAAGCCTTTGTTGA	0.453													A	15964914	G	A	15964914	3	1	104	1	0	0	0	0	1	0	0	0	4329	971	34	2	763	2	DDI2	1	15964914	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	90086	15964914	233285707	50	66664											
SPEN	23013	broad.mit.edu	37	chr1	16237756	16237756	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcatcaaaaggaaaacttttCtttggcatgcagattgaagt	9	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:16237756C>A	uc001axk.1	+	5	1407	c.1203C>A	c.(1201-1203)TTC>TTA	p.F401L	SPEN_uc010obp.1_Missense_Mutation_p.F360L	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	401	RRM 2.|By similarity.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAAAACTTTTCTTTGGCATGC	0.433													A	16237756	C	A	16237756	3	1	104	1	0	0	0	0	1	0	0	0	15037	912	32	5	1221	5	SPEN	1	16237756	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	272842	16237756	233012865	51	66665											
SPEN	23013	broad.mit.edu	37	chr1	16254624	16254624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacgactataaccaagatcGtacatattatgagagtgttc	7	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:16254624G>A	uc001axk.1	+	11	2093	c.1889G>A	c.(1888-1890)CGT>CAT	p.R630H	SPEN_uc010obp.1_Missense_Mutation_p.R589H	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	630	Arg-rich.|Tyr-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AACCAAGATCGTACATATTAT	0.408													A	16254624	G	A	16254624	3	1	104	1	0	0	0	0	1	0	0	0	15037	1145	40	1	1931	1	SPEN	1	16254624	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	16868	16254624	232995997	52	66666											
SPEN	23013	broad.mit.edu	37	chr1	16255513	16255513	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcagacggagcctgcaaaAtctgacttgtctaaactgga	9	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:16255513A>C	uc001axk.1	+	11	2982	c.2778A>C	c.(2776-2778)AAA>AAC	p.K926N	SPEN_uc010obp.1_Missense_Mutation_p.K885N	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	926					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGCCTGCAAAATCTGACTTGT	0.448													C	16255513	A	C	16255513	3	2	104	1	0	0	0	0	1	0	0	0	15037	98	4	5	2820	5	SPEN	1	16255513	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	889	16255513	232995108	53	66667											
SPEN	23013	broad.mit.edu	37	chr1	16260420	16260420	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagccattgcagagcctgTcagtgctgccccttgcctac	9	16	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:16260420T>C	uc001axk.1	+	11	7889	c.7685T>C	c.(7684-7686)GTC>GCC	p.V2562A	SPEN_uc010obp.1_Missense_Mutation_p.V2521A	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2562	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCAGAGCCTGTCAGTGCTGCC	0.532													C	16260420	T	C	16260420	3	2	104	1	0	0	0	0	1	0	0	0	15037	1667	58	3	7727	3	SPEN	1	16260420	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	4907	16260420	232990201	54	66668											
SPEN	23013	broad.mit.edu	37	chr1	16265254	16265254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggctctgccctgtggCcgtgaccaagaggatgttgt	14	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:16265254C>T	uc001axk.1	+	14	10950	c.10746C>T	c.(10744-10746)GGC>GGT	p.G3582G	SPEN_uc010obp.1_Silent_p.G3541G	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3582	SPOC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGCCCTGTGGCCGTGACCAAG	0.597													T	16265254	C	T	16265254	2	4	104	1	0	0	0	0	0	0	0	1	15037	726	26	2		2	SPEN	1	16265254	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4834	16265254	232985367	55	66669											
CLCNKA	1187	broad.mit.edu	37	chr1	16359671	16359671	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcccccatccaggcacaaAacctctttaagctgttgaac	5	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:16359671A>C	uc001axu.2	+	19	2016	c.1936A>C	c.(1936-1938)AAC>CAC	p.N646H	CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.N645H|CLCNKA_uc010obw.1_Missense_Mutation_p.N603H|CLCNKB_uc001axw.3_Intron	NM_004070	NP_004061	P51800	CLCKA_HUMAN	chloride channel Ka isoform 1	646	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCAGGCACAAAACCTCTTTAA	0.622											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	16359671	A	C	16359671	3	2	104	1	0	0	0	0	1	0	0	0	3469	14	1	5	2006	5	CLCNKA	1	16359671	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	94417	16359671	232890950	56	66670											
ARHGEF19	128272	broad.mit.edu	37	chr1	16528923	16528923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactcactccgtccgggccCgcagcaggaactggtgcttc	11	17	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:16528923C>T	uc001ayc.1	-	13	2191	c.2054G>A	c.(2053-2055)CGG>CAG	p.R685Q	ARHGEF19_uc009voo.1_Missense_Mutation_p.R38Q|ARHGEF19_uc001ayb.1_Missense_Mutation_p.R162Q	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	685	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CGTCCGGGCCCGCAGCAGGAA	0.682													T	16528923	C	T	16528923	3	4	104	1	0	0	0	0	1	0	0	0	902	652	23	1	370	1	ARHGEF19	1	16528923	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	169252	16528923	232721698	57	66671											
FBXO42	54455	broad.mit.edu	37	chr1	16632304	16632304	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtaaatacttactgtgcgAgaagcgctgagtgattgggg	14	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:16632304A>G	uc001ayg.2	-	3	577	c.361T>C	c.(361-363)TCG>CCG	p.S121P	FBXO42_uc001ayf.2_Missense_Mutation_p.S28P|FBXO42_uc001ayh.2_Missense_Mutation_p.S121P	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	F-box protein 42	121										upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TTACTGTGCGAGAAGCGCTGA	0.418													G	16632304	A	G	16632304	3	3	104	1	0	0	0	0	1	0	0	0	5751	304	11	3	1824	3	FBXO42	1	16632304	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	103381	16632304	232618317	58	66672											
CROCC	9696	broad.mit.edu	37	chr1	17265432	17265432	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcagactctgagagcggcgTccagctgagcggctctgagc	15	12	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:17265432T>C	uc001azt.2	+	12	1472	c.1403T>C	c.(1402-1404)GTC>GCC	p.V468A	CROCC_uc009voy.1_Missense_Mutation_p.V171A|CROCC_uc009voz.1_Missense_Mutation_p.V231A|CROCC_uc001azu.2_5'Flank	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	468					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GAGAGCGGCGTCCAGCTGAGC	0.706													C	17265432	T	C	17265432	3	2	104	1	0	0	0	0	1	0	0	0	3893	1667	58	3	1449	3	CROCC	1	17265432	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	633128	17265432	231985189	59	66673											
CROCC	9696	broad.mit.edu	37	chr1	17280759	17280759	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagaagacggcgctgtcagaGaagttgatgggtacacggca	16	7	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:17280759G>T	uc001azt.2	+	22	3297	c.3228G>T	c.(3226-3228)GAG>GAT	p.E1076D	CROCC_uc009voz.1_Missense_Mutation_p.E675D|CROCC_uc001azu.2_Missense_Mutation_p.E379D	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	1076					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CGCTGTCAGAGAAGTTGATGG	0.637													T	17280759	G	T	17280759	3	4	104	1	0	0	0	0	1	0	0	0	3893	933	33	5	3314	5	CROCC	1	17280759	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	15327	17280759	231969862	60	66674											
PADI4	23569	broad.mit.edu	37	chr1	17690157	17690157	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcaccttcatcaacgacttCttcacctaccacatcaggca	4	16	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:17690157C>A	uc001baj.2	+	16	1927	c.1899C>A	c.(1897-1899)TTC>TTA	p.F633L		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	633					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TCAACGACTTCTTCACCTACC	0.612													A	17690157	C	A	17690157	3	1	104	1	0	0	0	0	1	0	0	0	11380	912	32	5	1961	5	PADI4	1	17690157	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	409398	17690157	231560464	61	66675											
PADI6	353238	broad.mit.edu	37	chr1	17707627	17707627	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggccagcaacttgaggAcaagaaaaccaagaaagtga	12	7	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:17707627A>G	uc001bak.1	+	5	521	c.521A>G	c.(520-522)GAC>GGC	p.D174G		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	peptidylarginine deiminase type 6	166					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CAACTTGAGGACAAGAAAACC	0.502													G	17707627	A	G	17707627	3	3	104	1	0	0	0	0	1	0	0	0	11381	275	10	3	539	3	PADI6	1	17707627	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	17470	17707627	231542994	62	66676											
PADI6	353238	broad.mit.edu	37	chr1	17721561	17721561	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actggccacgtggatgagttCatgtgcttcatccccacaga	10	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:17721561C>A	uc001bak.1	+	13	1452	c.1452C>A	c.(1450-1452)TTC>TTA	p.F484L		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	peptidylarginine deiminase type 6	476					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGATGAGTTCATGTGCTTCA	0.532													A	17721561	C	A	17721561	3	1	104	1	0	0	0	0	1	0	0	0	11381	825	29	5	1499	5	PADI6	1	17721561	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	13934	17721561	231529060	63	66677											
RCC2	55920	broad.mit.edu	37	chr1	17735647	17735647	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctttctcagtctcacttTcatctcttgctatcaccaag	3	14	6	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:17735647T>G	uc001bal.2	-	12	1555	c.1508A>C	c.(1507-1509)GAA>GCA	p.E503A	RCC2_uc001bam.2_Missense_Mutation_p.E503A	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	503					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle					0		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		AGTCTCACTTTCATCTCTTGC	0.552													G	17735647	T	G	17735647	3	3	104	1	0	0	0	0	1	0	0	0	13174	1783	62	5	64	5	RCC2	1	17735647	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	14086	17735647	231514974	64	66678											
ACTL8	81569	broad.mit.edu	37	chr1	18149556	18149556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctggctttttgaaggctgGcacggccggctggaatgagc	16	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:18149556G>A	uc001bat.2	+	2	269	c.53G>A	c.(52-54)GGC>GAC	p.G18D		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	actin-like 8	18						cytoplasm|cytoskeleton				ovary(4)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		TTGAAGGCTGGCACGGCCGGC	0.592													A	18149556	G	A	18149556	3	1	104	1	0	0	0	0	1	0	0	0	202	1203	42	2	55	2	ACTL8	1	18149556	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	413909	18149556	231101065	65	66679											
ACTL8	81569	broad.mit.edu	37	chr1	18152471	18152471	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctctccgcctatctcctcaaGagtctctttaaggaagattg	7	12	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:18152471G>T	uc001bat.2	+	3	774	c.558G>T	c.(556-558)AAG>AAT	p.K186N		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	actin-like 8	186						cytoplasm|cytoskeleton				ovary(4)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		ATCTCCTCAAGAGTCTCTTTA	0.612											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	18152471	G	T	18152471	3	4	104	1	0	0	0	0	1	0	0	0	202	933	33	5	564	5	ACTL8	1	18152471	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2915	18152471	231098150	66	66680											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809805	18809805	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgatttgcctcagaccagggTctagcagtccctcaactgag	10	13	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:18809805T>G	uc001bax.2	+	1	2382	c.2330T>G	c.(2329-2331)GTC>GGC	p.V777G	KLHDC7A_uc009vpg.2_Intron	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	777						integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAGACCAGGGTCTAGCAGTCC	0.652													G	18809805	T	G	18809805	3	3	104	1	0	0	0	0	1	0	0	0	8360	1667	58	5	2332	5	KLHDC7A	1	18809805	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	657334	18809805	230440816	67	66681											
PAX7	5081	broad.mit.edu	37	chr1	19027166	19027166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctggttcagtaaccgccGcgcccgttggcgtaagcagg	15	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:19027166G>A	uc001bay.2	+	6	1404	c.806G>A	c.(805-807)CGC>CAC	p.R269H	PAX7_uc001baz.2_Missense_Mutation_p.R267H|PAX7_uc010oct.1_Missense_Mutation_p.R269H	NM_002584	NP_002575	P23759	PAX7_HUMAN	paired box 7 isoform 1	269	Homeobox.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		AGTAACCGCCGCGCCCGTTGG	0.652			T	FOXO1A	alveolar rhabdomyosarcoma								A	19027166	G	A	19027166	3	1	104	1	0	0	0	0	1	0	0	0	11484	1087	38	1	828	1	PAX7	1	19027166	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	217361	19027166	230223455	68	66682											
TAS1R2	80834	broad.mit.edu	37	chr1	19166471	19166471	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttacaggagacaattgtgatCttggggtcatcggggtcagt	14	6	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:19166471C>A	uc001bba.1	-	6	2143	c.2142G>T	c.(2140-2142)AAG>AAT	p.K714N		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	714	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CAATTGTGATCTTGGGGTCAT	0.542													A	19166471	C	A	19166471	3	1	104	1	0	0	0	0	1	0	0	0	15560	912	32	5	381	5	TAS1R2	1	19166471	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	139305	19166471	230084150	69	66683											
FAM43B	163933	broad.mit.edu	37	chr1	20879493	20879493	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctggagacgtaacaaattCgtgctggtggaggacgaggc	15	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:20879493C>T	uc001bdj.2	+	1	562	c.27C>T	c.(25-27)TTC>TTT	p.F9F		NM_207334	NP_997217	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	9											0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		GTAACAAATTCGTGCTGGTGG	0.692													T	20879493	C	T	20879493	2	4	104	1	0	0	0	0	0	0	0	1	5563	883	31	1		1	FAM43B	1	20879493	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1713022	20879493	228371128	70	66684											
KIF17	57576	broad.mit.edu	37	chr1	20991151	20991151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaagggatgtcgagggactCgaggcggaagggccggggct	21	7	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:20991151C>T	uc001bdr.3	-	15	3134	c.3016G>A	c.(3016-3018)GAG>AAG	p.E1006K	KIF17_uc001bdp.3_Missense_Mutation_p.E283K|KIF17_uc001bdq.3_Missense_Mutation_p.E284K|KIF17_uc009vpx.2_Missense_Mutation_p.E376K|KIF17_uc001bds.3_Missense_Mutation_p.E1005K	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	1006					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCGAGGGACTCGAGGCGGAAG	0.602													T	20991151	C	T	20991151	3	4	104	1	0	0	0	0	1	0	0	0	8279	893	31	1	77	1	KIF17	1	20991151	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	111658	20991151	228259470	71	66685											
EIF4G3	8672	broad.mit.edu	37	chr1	21220089	21220089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggtcctcgaggcaaaattCgaggatccagagttcgcatt	11	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:21220089C>T	uc001bec.2	-	13	2262	c.2006G>A	c.(2005-2007)CGA>CAA	p.R669Q	EIF4G3_uc010odi.1_Missense_Mutation_p.R273Q|EIF4G3_uc010odj.1_Missense_Mutation_p.R668Q|EIF4G3_uc009vpz.2_Missense_Mutation_p.R389Q|EIF4G3_uc001bed.2_Missense_Mutation_p.R669Q|EIF4G3_uc001bef.2_Missense_Mutation_p.R668Q|EIF4G3_uc001bee.2_Missense_Mutation_p.R675Q	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	669					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGGCAAAATTCGAGGATCCAG	0.463													T	21220089	C	T	21220089	3	4	104	1	0	0	0	0	1	0	0	0	5038	884	31	1	2831	1	EIF4G3	1	21220089	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	228938	21220089	228030532	72	66686											
ECE1	1889	broad.mit.edu	37	chr1	21546588	21546588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggatcggtgatgaggccttCgtgggagctctcaggtgtgc	18	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:21546588C>T	uc001bek.2	-	19	2248	c.2173G>A	c.(2173-2175)GAA>AAA	p.E725K	ECE1_uc001bem.2_Missense_Mutation_p.E709K|ECE1_uc001bej.2_Missense_Mutation_p.E713K|ECE1_uc001bei.2_Missense_Mutation_p.E722K|ECE1_uc010odl.1_Missense_Mutation_p.E693K	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	725	Extracellular (Potential).				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			ovary(2)|skin(1)	3		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		ATGAGGCCTTCGTGGGAGCTC	0.647													T	21546588	C	T	21546588	3	4	104	1	0	0	0	0	1	0	0	0	4889	893	31	1	143	1	ECE1	1	21546588	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	326499	21546588	227704033	73	66687											
ECE1	1889	broad.mit.edu	37	chr1	21551860	21551860	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgctctaccatgcactcggtCtgacgcttgaaggcctccac	9	15	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:21551860C>T	uc001bek.2	-	17	1998	c.1923G>A	c.(1921-1923)CAG>CAA	p.Q641Q	ECE1_uc001bem.2_Silent_p.Q625Q|ECE1_uc001bej.2_Silent_p.Q629Q|ECE1_uc001bei.2_Silent_p.Q638Q|ECE1_uc010odl.1_Silent_p.Q641Q	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	641	Extracellular (Potential).				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			ovary(2)|skin(1)	3		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TGCACTCGGTCTGACGCTTGA	0.622													T	21551860	C	T	21551860	2	4	104	1	0	0	0	0	0	0	0	1	4889	912	32	4		4	ECE1	1	21551860	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5272	21551860	227698761	74	66688											
USP48	84196	broad.mit.edu	37	chr1	22055105	22055105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtacagctccttaacctcttCgtgttttgcttttcctttat	5	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:22055105C>T	uc001bfb.2	-	11	1646	c.1408G>A	c.(1408-1410)GAA>AAA	p.E470K	USP48_uc010odq.1_Missense_Mutation_p.E469K|USP48_uc009vqc.2_Missense_Mutation_p.E470K|USP48_uc001bfc.2_Missense_Mutation_p.E470K|USP48_uc001bfe.1_Missense_Mutation_p.E469K|USP48_uc001bff.2_Missense_Mutation_p.E470K	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	470	DUSP 1.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TTAACCTCTTCGTGTTTTGCT	0.423													T	22055105	C	T	22055105	3	4	104	1	0	0	0	0	1	0	0	0	17076	893	31	1	1775	1	USP48	1	22055105	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	503245	22055105	227195516	75	66689											
USP48	84196	broad.mit.edu	37	chr1	22056301	22056301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgccacacttgggtttaCgtgtctgagacttagaaggt	11	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:22056301C>T	uc001bfb.2	-	10	1434	c.1196G>A	c.(1195-1197)CGT>CAT	p.R399H	USP48_uc010odq.1_Missense_Mutation_p.R398H|USP48_uc009vqc.2_Missense_Mutation_p.R399H|USP48_uc001bfc.2_Missense_Mutation_p.R399H|USP48_uc001bfe.1_Missense_Mutation_p.R398H|USP48_uc001bff.2_Missense_Mutation_p.R399H	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	399					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CTTGGGTTTACGTGTCTGAGA	0.388													T	22056301	C	T	22056301	3	4	104	1	0	0	0	0	1	0	0	0	17076	536	19	1	1991	1	USP48	1	22056301	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1196	22056301	227194320	76	66690											
ZBTB40	9923	broad.mit.edu	37	chr1	22816534	22816534	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgcaccatctccattggTaccatttacttcagggctca	7	12	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:22816534T>C	uc001bft.2	+	3	604	c.93T>C	c.(91-93)GGT>GGC	p.G31G	ZBTB40_uc001bfu.2_Silent_p.G31G|ZBTB40_uc009vqi.1_Silent_p.G31G	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	31	BTB.				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TCTCCATTGGTACCATTTACT	0.532													C	22816534	T	C	22816534	2	2	104	1	0	0	0	0	0	0	0	1	17539	1625	57	3		3	ZBTB40	1	22816534	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	760233	22816534	226434087	77	66691											
EPHB2	2048	broad.mit.edu	37	chr1	23235657	23235657	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccctactgggacatgaccaAccaggatgtaagtctccaag	10	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:23235657A>G	uc009vqj.1	+	13	2640	c.2495A>G	c.(2494-2496)AAC>AGC	p.N832S	EPHB2_uc001bge.2_Missense_Mutation_p.N833S|EPHB2_uc001bgf.2_Missense_Mutation_p.N832S|EPHB2_uc010odu.1_Missense_Mutation_p.N774S	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	832	Cytoplasmic (Potential).|Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GACATGACCAACCAGGATGTA	0.592									Hereditary_Prostate_Cancer				G	23235657	A	G	23235657	3	3	104	1	0	0	0	0	1	0	0	0	5175	43	2	3	2548	3	EPHB2	1	23235657	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	419123	23235657	226014964	78	66692											
HNRNPR	10236	broad.mit.edu	37	chr1	23637094	23637094	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttggttgttggtctgacgAcgcttggaatcaggctggtt	15	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:23637094A>G	uc001bgr.3	-	11	1914	c.1755T>C	c.(1753-1755)CGT>CGC	p.R585R	HNRNPR_uc001bgo.2_Silent_p.R195R|HNRNPR_uc001bgp.3_Silent_p.R588R|HNRNPR_uc009vqk.2_Silent_p.R487R|HNRNPR_uc001bgs.3_Silent_p.R484R|HNRNPR_uc010odw.1_Silent_p.R547R|HNRNPR_uc010odx.1_Silent_p.R425R|HNRNPR_uc009vql.2_Silent_p.R446R	NM_005826	NP_005817	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	585	Asn/Gln-rich.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TGGTCTGACGACGCTTGGAAT	0.542													G	23637094	A	G	23637094	2	3	104	1	0	0	0	0	0	0	0	1	7272	262	10	3		3	HNRNPR	1	23637094	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	401437	23637094	225613527	79	66693											
MYOM3	127294	broad.mit.edu	37	chr1	24413228	24413228	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actctgaagacatacgacttCtttttctccaggtccagaac	6	12	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:24413228C>A	uc001bin.3	-	15	1867	c.1704G>T	c.(1702-1704)AAG>AAT	p.K568N	MYOM3_uc001bim.3_Missense_Mutation_p.K225N|MYOM3_uc001bio.2_Missense_Mutation_p.K568N|MYOM3_uc001bip.1_Missense_Mutation_p.K225N	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	568	Fibronectin type-III 2.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CATACGACTTCTTTTTCTCCA	0.582													A	24413228	C	A	24413228	3	1	104	1	0	0	0	0	1	0	0	0	10093	912	32	5	2701	5	MYOM3	1	24413228	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	776134	24413228	224837393	80	66694											
MYOM3	127294	broad.mit.edu	37	chr1	24421951	24421951	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttttgaagatctctgaatcGaagccagcatccttccccag	7	13	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:24421951G>A	uc001bin.3	-	8	934	c.771C>T	c.(769-771)TTC>TTT	p.F257F	MYOM3_uc001bim.3_5'Flank|MYOM3_uc001bio.2_Silent_p.F257F|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	257										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCTCTGAATCGAAGCCAGCAT	0.463													A	24421951	G	A	24421951	2	1	104	1	0	0	0	0	0	0	0	1	10093	1049	37	1		1	MYOM3	1	24421951	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	8723	24421951	224828670	81	66695											
NIPAL3	57185	broad.mit.edu	37	chr1	24746100	24746100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccacaagtagctccagCgccgtaagcgaggcctcctt	9	17	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:24746100C>T	uc001bjh.2	+	2	470	c.63C>T	c.(61-63)AGC>AGT	p.S21S	NIPAL3_uc010oek.1_Silent_p.S21S|NIPAL3_uc001bjg.2_Silent_p.S21S|NIPAL3_uc009vrc.2_5'UTR	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	21	Poly-Ser.					integral to membrane					0						GTAGCTCCAGCGCCGTAAGCG	0.572													T	24746100	C	T	24746100	2	4	104	1	0	0	0	0	0	0	0	1	10426	767	27	1		1	NIPAL3	1	24746100	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	324149	24746100	224504521	82	66696											
NIPAL3	57185	broad.mit.edu	37	chr1	24790531	24790531	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgcaggtgcctcattgcattCttgggcgtcttcttaatcac	9	12	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:24790531C>T	uc001bjh.2	+	11	1349	c.942C>T	c.(940-942)TTC>TTT	p.F314F	NIPAL3_uc001bjg.2_Silent_p.F314F|NIPAL3_uc009vrc.2_Silent_p.F232F|NIPAL3_uc001bji.2_Missense_Mutation_p.L123F	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	314	Helical; (Potential).					integral to membrane					0						TCATTGCATTCTTGGGCGTCT	0.507													T	24790531	C	T	24790531	2	4	104	1	0	0	0	0	0	0	0	1	10426	912	32	4		4	NIPAL3	1	24790531	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	44431	24790531	224460090	83	66697											
SYF2	25949	broad.mit.edu	37	chr1	25554613	25554613	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaggtcaatctgacctgaAaatcccagatcagggttttt	8	8	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:25554613A>C	uc001bjt.1	-	4	427	c.372T>G	c.(370-372)TTT>TTG	p.F124L	SYF2_uc001bju.1_Missense_Mutation_p.F82L|SYF2_uc010oeo.1_Missense_Mutation_p.F124L	NM_015484	NP_056299	O95926	SYF2_HUMAN	SYF2 homolog, RNA splicing factor isoform 1	124						catalytic step 2 spliceosome					0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		TCTGACCTGAAAATCCCAGAT	0.423													C	25554613	A	C	25554613	3	2	104	1	0	0	0	0	1	0	0	0	15434	11	1	5	375	5	SYF2	1	25554613	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	764082	25554613	223696008	84	66698											
MAN1C1	57134	broad.mit.edu	37	chr1	26110217	26110217	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagactgggtgttcaacacCgaggcccacccactcccggt	11	15	1	1	rs142054155		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:26110217C>T	uc001bkm.2	+	12	2160	c.1830C>T	c.(1828-1830)ACC>ACT	p.T610T	MAN1C1_uc009vry.1_Silent_p.T430T|MAN1C1_uc001bkn.2_Silent_p.T81T	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	610	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(1)	1		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		TGTTCAACACCGAGGCCCACC	0.632													T	26110217	C	T	26110217	2	4	104	1	0	0	0	0	0	0	0	1	9213	639	23	1		1	MAN1C1	1	26110217	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	555604	26110217	223140404	85	66699											
SLC30A2	7780	broad.mit.edu	37	chr1	26371619	26371619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgatggttgctctggGcagccagctcaatggcctgc	15	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:26371619G>A	uc001blh.1	-	2	357	c.140C>T	c.(139-141)GCC>GTC	p.A47V	SLC30A2_uc001blg.1_Missense_Mutation_p.A47V	NM_032513	NP_115902	Q9BRI3	ZNT2_HUMAN	solute carrier family 30, member 2 isoform 2	47	Cytoplasmic (Potential).				positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		GTTGCTCTGGGCAGCCAGCTC	0.617													A	26371619	G	A	26371619	3	1	104	1	0	0	0	0	1	0	0	0	14555	1203	42	2	1006	2	SLC30A2	1	26371619	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	261402	26371619	222879002	86	66700											
CD52	1043	broad.mit.edu	37	chr1	26646686	26646686	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactggactctcaggacaaAacgacaccagccaaaccagc	7	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:26646686A>C	uc001bmc.2	+	2	177	c.79A>C	c.(79-81)AAC>CAC	p.N27H	UBXN11_uc001bma.2_5'Flank	NM_001803	NP_001794	P31358	CD52_HUMAN	CD52 antigen precursor	27					elevation of cytosolic calcium ion concentration|respiratory burst	anchored to membrane|integral to plasma membrane|membrane fraction					0		all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649)	Alemtuzumab(DB00087)	CTCAGGACAAAACGACACCAG	0.398													C	26646686	A	C	26646686	3	2	104	1	0	0	0	0	1	0	0	0	3022	14	1	5	85	5	CD52	1	26646686	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	275067	26646686	222603935	87	66701											
AIM1L	55057	broad.mit.edu	37	chr1	26655305	26655305	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcacctccctgctgagctcGatctccttcccctcgaagca	7	19	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:26655305G>A	uc001bmd.3	-	15	1669	c.1239C>T	c.(1237-1239)ATC>ATT	p.I413I		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	413	Beta/gamma crystallin 'Greek key' 9.						sugar binding			pancreas(1)	1		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGCTGAGCTCGATCTCCTTCC	0.597													A	26655305	G	A	26655305	2	1	104	1	0	0	0	0	0	0	0	1	431	1048	37	1		1	AIM1L	1	26655305	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	8619	26655305	222595316	88	66702											
AIM1L	55057	broad.mit.edu	37	chr1	26658088	26658088	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctggtcaccctcgaagttCgtctcatcaaacaggatcca	8	13	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:26658088C>T	uc001bmd.3	-	14	1501	c.1071G>A	c.(1069-1071)ACG>ACA	p.T357T		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	357	Beta/gamma crystallin 'Greek key' 8.						sugar binding			pancreas(1)	1		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCTCGAAGTTCGTCTCATCAA	0.582													T	26658088	C	T	26658088	2	4	104	1	0	0	0	0	0	0	0	1	431	871	31	1		1	AIM1L	1	26658088	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2783	26658088	222592533	89	66703											
ARID1A	8289	broad.mit.edu	37	chr1	27094302	27094302	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatccagttcttctactacaAccaatgagaagatcaccaag	5	11	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:27094302A>G	uc001bmv.1	+	11	3383	c.3010A>G	c.(3010-3012)ACC>GCC	p.T1004A	ARID1A_uc001bmt.1_Missense_Mutation_p.T1004A|ARID1A_uc001bmu.1_Missense_Mutation_p.T1004A|ARID1A_uc001bmw.1_Missense_Mutation_p.T621A	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1004					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTCTACTACAACCAATGAGAA	0.483			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								G	27094302	A	G	27094302	3	3	104	1	0	0	0	0	1	0	0	0	913	43	2	3	3052	3	ARID1A	1	27094302	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	436214	27094302	222156319	90	66704											
ARID1A	8289	broad.mit.edu	37	chr1	27097788	27097788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctgctgattccaagaagtCccagcccaagatccagcctc	8	15	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:27097788C>T	uc001bmv.1	+	12	3750	c.3377C>T	c.(3376-3378)TCC>TTC	p.S1126F	ARID1A_uc001bmt.1_Missense_Mutation_p.S1126F|ARID1A_uc001bmu.1_Missense_Mutation_p.S1126F|ARID1A_uc001bmw.1_Missense_Mutation_p.S743F|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1126					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCAAGAAGTCCCAGCCCAAG	0.537			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								T	27097788	C	T	27097788	3	4	104	1	0	0	0	0	1	0	0	0	913	855	30	4	3423	4	ARID1A	1	27097788	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3486	27097788	222152833	91	66705											
PIGV	55650	broad.mit.edu	37	chr1	27121613	27121613	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggctgcaaaggagcaagaAcaataagaccctagagaagc	12	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:27121613A>C	uc001bmz.2	+	3	1419	c.1088A>C	c.(1087-1089)AAC>ACC	p.N363T	PIGV_uc001bmy.2_Missense_Mutation_p.N128T|PIGV_uc009vso.2_Missense_Mutation_p.N363T|PIGV_uc010ofg.1_Missense_Mutation_p.N128T|PIGV_uc001bna.2_Missense_Mutation_p.N363T	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan class V	363	Cytoplasmic (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			ovary(1)	1		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		AGGAGCAAGAACAATAAGACC	0.547													C	27121613	A	C	27121613	3	2	104	1	0	0	0	0	1	0	0	0	11901	43	2	5	1094	5	PIGV	1	27121613	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	23825	27121613	222129008	92	66706											
GPATCH3	63906	broad.mit.edu	37	chr1	27217691	27217691	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcctcttcagttgcccaAatggctgtagcttctctcca	10	13	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:27217691A>C	uc001bne.2	-	7	1417	c.1388T>G	c.(1387-1389)TTT>TGT	p.F463C	GPN2_uc001bnd.1_5'Flank|GPATCH3_uc009vsp.1_Missense_Mutation_p.F274C	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	G patch domain containing 3	463						intracellular	nucleic acid binding				0		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CAGTTGCCCAAATGGCTGTAG	0.552													C	27217691	A	C	27217691	3	2	104	1	0	0	0	0	1	0	0	0	6592	14	1	5	193	5	GPATCH3	1	27217691	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	96078	27217691	222032930	93	66707											
MAP3K6	9064	broad.mit.edu	37	chr1	27688646	27688646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgggtggggtcattggCgaggatctgggctcccaggt	17	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:27688646C>T	uc001bny.1	-	9	1600	c.1351G>A	c.(1351-1353)GCC>ACC	p.A451T	MAP3K6_uc009vsw.1_Missense_Mutation_p.A443T|MAP3K6_uc001bnz.1_5'Flank	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	451					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGGTCATTGGCGAGGATCTGG	0.602													T	27688646	C	T	27688646	3	4	104	1	0	0	0	0	1	0	0	0	9254	768	27	1	2599	1	MAP3K6	1	27688646	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	470955	27688646	221561975	94	66708											
FCN3	8547	broad.mit.edu	37	chr1	27697428	27697428	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taggaggaccaagagcggaaGaaatccacagaaccatcctg	11	10	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:27697428G>T	uc001boa.2	-	6	435	c.429C>A	c.(427-429)TTC>TTA	p.F143L	FCN3_uc001bob.2_Missense_Mutation_p.F132L	NM_003665	NP_003656	O75636	FCN3_HUMAN	ficolin 3 isoform 1 precursor	143	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding				0		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AAGAGCGGAAGAAATCCACAG	0.557													T	27697428	G	T	27697428	3	4	104	1	0	0	0	0	1	0	0	0	5793	933	33	5	482	5	FCN3	1	27697428	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	8782	27697428	221553193	95	66709											
WASF2	10163	broad.mit.edu	37	chr1	27745548	27745548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagaggcaaaggtatttgCctgagtaaagagctctccaa	11	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:27745548C>T	uc001bof.1	-	3	388	c.172G>A	c.(172-174)GCA>ACA	p.A58T	WASF2_uc010ofl.1_Missense_Mutation_p.A58T	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	58					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			skin(2)|ovary(1)	3		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		AAGGTATTTGCCTGAGTAAAG	0.448													T	27745548	C	T	27745548	3	4	104	1	0	0	0	0	1	0	0	0	17250	739	26	2	1352	2	WASF2	1	27745548	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	48120	27745548	221505073	96	66710											
AHDC1	27245	broad.mit.edu	37	chr1	27876445	27876445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagcgtctacctccccccGgccccgtttgcgtgggtgcc	11	19	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:27876445G>A	uc009vsy.2	-	6	3151	c.2182C>T	c.(2182-2184)CGG>TGG	p.R728W	AHDC1_uc009vsz.1_Missense_Mutation_p.R728W	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	728	Gly-rich.						DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		ACCTCCCCCCGGCCCCGTTTG	0.652													A	27876445	G	A	27876445	3	1	104	1	0	0	0	0	1	0	0	0	412	1115	39	1	2633	1	AHDC1	1	27876445	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	130897	27876445	221374176	97	66711											
FGR	2268	broad.mit.edu	37	chr1	27939476	27939476	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagcggaggtgaagtagtcCtccaggaaggactgcaggta	15	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:27939476C>A	uc001boj.2	-	11	1685	c.1539G>T	c.(1537-1539)GAG>GAT	p.E513D	FGR_uc001boi.2_Missense_Mutation_p.E216D|FGR_uc001bok.2_Missense_Mutation_p.E513D|FGR_uc001bol.2_Missense_Mutation_p.E513D|FGR_uc001bom.2_Missense_Mutation_p.E513D	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	513	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(2)	2		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGAAGTAGTCCTCCAGGAAGG	0.622													A	27939476	C	A	27939476	3	1	104	1	0	0	0	0	1	0	0	0	5874	680	24	5	54	5	FGR	1	27939476	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	63031	27939476	221311145	98	66712											
EYA3	2140	broad.mit.edu	37	chr1	28319925	28319925	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acttaccacccacgttgcttTtatgcttatcatagatttct	4	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:28319925T>G	uc001bpi.1	-	14	1454	c.1289A>C	c.(1288-1290)AAA>ACA	p.K430T	EYA3_uc010ofs.1_Missense_Mutation_p.K377T|EYA3_uc010oft.1_Missense_Mutation_p.K384T|EYA3_uc001bpj.2_Missense_Mutation_p.K384T|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA	NM_001990	NP_001981	Q99504	EYA3_HUMAN	eyes absent 3	430					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			ovary(2)|skin(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		CACGTTGCTTTTATGCTTATC	0.468													G	28319925	T	G	28319925	3	3	104	1	0	0	0	0	1	0	0	0	5330	1841	64	5	452	5	EYA3	1	28319925	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	380449	28319925	220930696	99	66713											
PTPRU	10076	broad.mit.edu	37	chr1	29605969	29605969	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaatcctgcccccagaTcagctaccagagcatcgagt	8	16	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:29605969T>C	uc001bru.2	+	10	1675	c.1565T>C	c.(1564-1566)ATC>ACC	p.I522T	PTPRU_uc001brv.2_Missense_Mutation_p.I522T|PTPRU_uc001brw.2_Missense_Mutation_p.I522T|PTPRU_uc009vtq.2_Missense_Mutation_p.I522T|PTPRU_uc009vtr.2_Missense_Mutation_p.I522T	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	522	Extracellular (Potential).|Fibronectin type-III 3.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCCCCCAGATCAGCTACCAG	0.597													C	29605969	T	C	29605969	3	2	104	1	0	0	0	0	1	0	0	0	12813	1449	50	3	1603	3	PTPRU	1	29605969	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1286044	29605969	219644652	100	66714											
MATN1	4146	broad.mit.edu	37	chr1	31191761	31191761	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcccgcgcagacacgtccTgcacgctgtcctggggcctc	14	17	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:31191761T>C	uc001brz.2	-	3	519	c.485A>G	c.(484-486)CAG>CGG	p.Q162R	uc001bsb.1_RNA|MATN1_uc001bsa.1_Missense_Mutation_p.Q80R	NM_002379	NP_002370	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein precursor	162	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)	1		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		AGACACGTCCTGCACGCTGTC	0.721													C	31191761	T	C	31191761	3	2	104	1	0	0	0	0	1	0	0	0	9333	1580	55	3	1029	3	MATN1	1	31191761	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1585792	31191761	218058860	101	66715											
PUM1	9698	broad.mit.edu	37	chr1	31426818	31426818	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtatcttccactgccattCgtgagtcctcctgttggtta	8	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:31426818C>T	uc001bsi.1	-	15	2447	c.2334G>A	c.(2332-2334)ACG>ACA	p.T778T	PUM1_uc001bsf.1_Silent_p.T444T|PUM1_uc001bsg.1_Silent_p.T512T|PUM1_uc001bsh.1_Silent_p.T778T|PUM1_uc001bsj.1_Silent_p.T752T|PUM1_uc010oga.1_Silent_p.T634T|PUM1_uc001bsk.1_Silent_p.T814T|PUM1_uc010ogb.1_Silent_p.T719T	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	778	Ser-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CACTGCCATTCGTGAGTCCTC	0.517													T	31426818	C	T	31426818	2	4	104	1	0	0	0	0	0	0	0	1	12825	871	31	1		1	PUM1	1	31426818	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	235057	31426818	217823803	102	66716											
PUM1	9698	broad.mit.edu	37	chr1	31532388	31532388	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctgccaaagcactgcttttCtcttcaagacacatgcaacg	6	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:31532388C>A	uc001bsi.1	-	2	139	c.26G>T	c.(25-27)AGA>ATA	p.R9I	PUM1_uc001bsh.1_Missense_Mutation_p.R9I|PUM1_uc001bsj.1_Missense_Mutation_p.R9I|PUM1_uc010oga.1_Missense_Mutation_p.R9I|PUM1_uc001bsk.1_Missense_Mutation_p.R45I|PUM1_uc010ogb.1_Missense_Mutation_p.R45I	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	9					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CACTGCTTTTCTCTTCAAGAC	0.413													A	31532388	C	A	31532388	3	1	104	1	0	0	0	0	1	0	0	0	12825	913	32	5	3624	5	PUM1	1	31532388	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	105570	31532388	217718233	103	66717											
COL16A1	1307	broad.mit.edu	37	chr1	32145658	32145658	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttaccggcatgccagagaaGatgaggtctccttgagaggg	14	9	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:32145658G>T	uc001btk.1	-	40	3020	c.2655C>A	c.(2653-2655)ATC>ATA	p.I885I	COL16A1_uc001btj.1_Silent_p.I714I|COL16A1_uc001btl.3_Silent_p.I885I	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	885	Nonhelical region 5 (NC5).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGCCAGAGAAGATGAGGTCTC	0.582													T	32145658	G	T	32145658	2	4	104	1	0	0	0	0	0	0	0	1	3673	932	33	5		5	COL16A1	1	32145658	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	613270	32145658	217104963	104	66718											
BAI2	576	broad.mit.edu	37	chr1	32206090	32206090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaggctgcgcaccacctgcGacatgccctcgcctgccagc	11	19	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:32206090G>A	uc001btn.2	-	12	2201	c.1847C>T	c.(1846-1848)TCG>TTG	p.S616L	BAI2_uc010ogo.1_Missense_Mutation_p.S258L|BAI2_uc010ogp.1_Missense_Mutation_p.S549L|BAI2_uc010ogq.1_Missense_Mutation_p.S616L|BAI2_uc001bto.2_Missense_Mutation_p.S616L|BAI2_uc001btq.1_Missense_Mutation_p.S549L|BAI2_uc010ogr.1_Intron	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	616	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CACCACCTGCGACATGCCCTC	0.612													A	32206090	G	A	32206090	3	1	104	1	0	0	0	0	1	0	0	0	1299	1059	37	1	2998	1	BAI2	1	32206090	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	60432	32206090	217044531	105	66719											
SPOCD1	90853	broad.mit.edu	37	chr1	32280649	32280649	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtggagcccaggagccaGcatcgagccccggctctgta	13	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:32280649G>A	uc001bts.1	-	2	344	c.286C>T	c.(286-288)CTG>TTG	p.L96L	SPOCD1_uc001btu.2_Silent_p.L96L|SPOCD1_uc001btv.2_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	96					transcription, DNA-dependent					ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCAGGAGCCAGCATCGAGCCC	0.637													A	32280649	G	A	32280649	2	1	104	1	0	0	0	0	0	0	0	1	15077	962	34	2		2	SPOCD1	1	32280649	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	74559	32280649	216969972	106	66720											
KPNA6	23633	broad.mit.edu	37	chr1	32636370	32636370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatctaccagaaggccttcGacctcattgagcactacttt	7	12	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:32636370G>A	uc001bug.2	+	14	1574	c.1486G>A	c.(1486-1488)GAC>AAC	p.D496N	KPNA6_uc001buh.2_Missense_Mutation_p.D271N|KPNA6_uc010ogx.1_Missense_Mutation_p.D493N|KPNA6_uc010ogy.1_Missense_Mutation_p.D501N|KPNA6_uc009vtz.2_Missense_Mutation_p.D391N	NM_012316	NP_036448	O60684	IMA7_HUMAN	karyopherin alpha 6	496	ARM 10; atypical.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GAAGGCCTTCGACCTCATTGA	0.502													A	32636370	G	A	32636370	3	1	104	1	0	0	0	0	1	0	0	0	8434	1058	37	1	1540	1	KPNA6	1	32636370	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	355721	32636370	216614251	107	66721											
ZBTB8A	653121	broad.mit.edu	37	chr1	33059046	33059046	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctaagcccagagcaaggaAcaggtataataagtggaaaa	10	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:33059046A>G	uc001bvn.2	+	3	999	c.514A>G	c.(514-516)ACA>GCA	p.T172A	ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_Missense_Mutation_p.T172A	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGAGCAAGGAACAGGTATAAT	0.428													G	33059046	A	G	33059046	3	3	104	1	0	0	0	0	1	0	0	0	17553	43	2	3	516	3	ZBTB8A	1	33059046	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	422676	33059046	216191575	108	66722											
ZBTB8A	653121	broad.mit.edu	37	chr1	33066006	33066006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagaaaaagaaattaagCccaacattaggtagctgtaa	8	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:33066006C>T	uc001bvn.2	+	5	1797	c.1312C>T	c.(1312-1314)CCC>TCC	p.P438S	ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_3'UTR|ZBTB8OS_uc001bvo.1_Intron	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGAAATTAAGCCCAACATTAG	0.403													T	33066006	C	T	33066006	3	4	104	1	0	0	0	0	1	0	0	0	17553	739	26	2	1322	2	ZBTB8A	1	33066006	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	6960	33066006	216184615	109	66723											
YARS	8565	broad.mit.edu	37	chr1	33248064	33248064	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagggcaggggtattaAacttttcccggattggatcc	11	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:33248064A>C	uc001bvy.1	-	9	1771	c.983T>G	c.(982-984)TTT>TGT	p.F328C	YARS_uc001bvw.1_5'Flank|YARS_uc001bvx.1_5'UTR	NM_003680	NP_003671	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	328					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	AGGGGTATTAAACTTTTCCCG	0.512													C	33248064	A	C	33248064	3	2	104	1	0	0	0	0	1	0	0	0	17464	14	1	5	623	5	YARS	1	33248064	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	182058	33248064	216002557	110	66724											
FNDC5	252995	broad.mit.edu	37	chr1	33330326	33330326	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtttctgatgcactcttgGttttttccttgttgttattg	9	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:33330326G>T	uc001bwg.2	-	5	562	c.347C>A	c.(346-348)ACC>AAC	p.T116N	FNDC5_uc001bwe.2_RNA|FNDC5_uc001bwf.1_Missense_Mutation_p.T116N	NM_153756	NP_715637	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	175	Cytoplasmic (Potential).					integral to membrane|peroxisomal membrane				ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGCACTCTTGGTTTTTTCCTT	0.572													T	33330326	G	T	33330326	3	4	104	1	0	0	0	0	1	0	0	0	5972	1261	44	5	147	5	FNDC5	1	33330326	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	82262	33330326	215920295	111	66725											
ZSCAN20	7579	broad.mit.edu	37	chr1	33960823	33960823	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaggagagaagccctacaAatgccttgagtgtggaaaat	11	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:33960823A>C	uc001bxj.3	+	8	3046	c.2879A>C	c.(2878-2880)AAA>ACA	p.K960T	ZSCAN20_uc009vui.2_Missense_Mutation_p.K959T	NM_145238	NP_660281	P17040	ZSC20_HUMAN	zinc finger protein 31	960	C2H2-type 8.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAGCCCTACAAATGCCTTGAG	0.502													C	33960823	A	C	33960823	3	2	104	1	0	0	0	0	1	0	0	0	18229	14	1	5	2905	5	ZSCAN20	1	33960823	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	630497	33960823	215289798	112	66726											
CSMD2	114784	broad.mit.edu	37	chr1	34037145	34037145	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttacttcggcaggtgggCgtagagtccccgaggctcca	15	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:34037145C>T	uc001bxn.1	-	52	7979	c.7950G>A	c.(7948-7950)ACG>ACA	p.T2650T	CSMD2_uc001bxm.1_Silent_p.T2648T	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2650	Sushi 16.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCAGGTGGGCGTAGAGTCCC	0.587													T	34037145	C	T	34037145	2	4	104	1	0	0	0	0	0	0	0	1	3945	755	27	1		1	CSMD2	1	34037145	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	76322	34037145	215213476	113	66727											
GJA4	2701	broad.mit.edu	37	chr1	35259868	35259868	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaccaggtccaggagcactcGaccgtggtgggtaagatctg	15	10	1	1	rs143380983		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:35259868G>A	uc001bya.2	+	2	142	c.54G>A	c.(52-54)TCG>TCA	p.S18S	GJA4_uc009vul.2_Silent_p.S94S|GJA4_uc009vum.1_Silent_p.S18S	NM_002060	NP_002051	P35212	CXA4_HUMAN	connexin 37	18	Cytoplasmic (Potential).				cell-cell junction assembly	integral to plasma membrane				central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGGAGCACTCGACCGTGGTGG	0.612													A	35259868	G	A	35259868	2	1	104	1	0	0	0	0	0	0	0	1	6403	1045	37	1		1	GJA4	1	35259868	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1222723	35259868	213990753	114	66728											
DLGAP3	58512	broad.mit.edu	37	chr1	35370086	35370086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccgagcgccccttgaagCtcaagtcccggtaggaccca	11	17	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:35370086C>T	uc001byc.2	-	1	899	c.899G>A	c.(898-900)AGC>AAC	p.S300N		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	300					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				CCCCTTGAAGCTCAAGTCCCG	0.652													T	35370086	C	T	35370086	3	4	104	1	0	0	0	0	1	0	0	0	4561	797	28	2	2080	2	DLGAP3	1	35370086	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	110218	35370086	213880535	115	66729											
ZMYM6	9204	broad.mit.edu	37	chr1	35452862	35452862	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttgaaaagggtaataaaAatttcattgccctttcatgg	8	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:35452862A>C	uc001byh.2	-	16	4049	c.3821T>G	c.(3820-3822)TTT>TGT	p.F1274C	uc001byd.3_5'Flank|uc001bye.2_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc010oht.1_Missense_Mutation_p.F1177C	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	1274					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGGTAATAAAAATTTCATTGC	0.363													C	35452862	A	C	35452862	3	2	104	1	0	0	0	0	1	0	0	0	17701	14	1	5	160	5	ZMYM6	1	35452862	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	82776	35452862	213797759	116	66730											
ZMYM6	9204	broad.mit.edu	37	chr1	35480485	35480485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgatatttaacttcaaatCgagtctaggaaataaacaca	5	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:35480485C>T	uc001byh.2	-	6	836	c.608G>A	c.(607-609)CGA>CAA	p.R203Q	ZMYM6_uc001byf.1_Missense_Mutation_p.R203Q|ZMYM6_uc010oht.1_Missense_Mutation_p.R106Q|ZMYM6_uc009vup.2_Missense_Mutation_p.R9Q|ZMYM6_uc009vuq.1_Missense_Mutation_p.R203Q|ZMYM6_uc009vur.1_Missense_Mutation_p.R9Q	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	203	MYM-type 2.				multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AACTTCAAATCGAGTCTAGGA	0.333													T	35480485	C	T	35480485	3	4	104	1	0	0	0	0	1	0	0	0	17701	884	31	1	3413	1	ZMYM6	1	35480485	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	27623	35480485	213770136	117	66731											
ZMYM1	79830	broad.mit.edu	37	chr1	35579062	35579062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgacgatttatctattcattCgaaacagattgagggaaata	8	5	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:35579062C>T	uc001bym.2	+	11	1779	c.1631C>T	c.(1630-1632)TCG>TTG	p.S544L	ZMYM1_uc001byn.2_Missense_Mutation_p.S544L|ZMYM1_uc010ohu.1_Missense_Mutation_p.S525L|ZMYM1_uc001byo.2_Missense_Mutation_p.S184L|ZMYM1_uc009vut.2_Missense_Mutation_p.S469L	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM domain containing 1	544						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCTATTCATTCGAAACAGATT	0.328													T	35579062	C	T	35579062	3	4	104	1	0	0	0	0	1	0	0	0	17696	893	31	1	1665	1	ZMYM1	1	35579062	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	98577	35579062	213671559	118	66732											
ZMYM1	79830	broad.mit.edu	37	chr1	35580514	35580514	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggacattatcccagaacttaGattttatcgacattatgcaa	6	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:35580514G>A	uc001bym.2	+	11	3231	c.3083G>A	c.(3082-3084)AGA>AAA	p.R1028K	ZMYM1_uc001byn.2_Missense_Mutation_p.R1028K|ZMYM1_uc010ohu.1_Missense_Mutation_p.R1009K|ZMYM1_uc001byo.2_Missense_Mutation_p.R668K|ZMYM1_uc009vut.2_Missense_Mutation_p.R953K	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM domain containing 1	1028						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCAGAACTTAGATTTTATCGA	0.333													A	35580514	G	A	35580514	3	1	104	1	0	0	0	0	1	0	0	0	17696	942	33	4	3117	4	ZMYM1	1	35580514	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1452	35580514	213670107	119	66733											
ZMYM4	9202	broad.mit.edu	37	chr1	35852607	35852607	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgttttgtttttccagaatTtattcaacaaaccaactgga	5	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:35852607T>G	uc001byt.2	+	12	1920	c.1840T>G	c.(1840-1842)TTA>GTA	p.L614V	ZMYM4_uc009vuu.2_Missense_Mutation_p.L582V|ZMYM4_uc001byu.2_Missense_Mutation_p.L290V|ZMYM4_uc009vuv.2_Missense_Mutation_p.L353V	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	614	MYM-type 6.				multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTCCAGAATTTATTCAACAA	0.289													G	35852607	T	G	35852607	3	3	104	1	0	0	0	0	1	0	0	0	17699	1838	64	5	1886	5	ZMYM4	1	35852607	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	272093	35852607	213398014	120	66734											
KIAA0319L	79932	broad.mit.edu	37	chr1	35925982	35925982	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agaaatcttctcttctcttaGaggccccttaagttcttccc	5	13	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:35925982G>C	uc001byx.2	-	9	1609	c.1351C>G	c.(1351-1353)CTA>GTA	p.L451V	KIAA0319L_uc010ohv.1_Missense_Mutation_p.L93V|KIAA0319L_uc010ohw.1_RNA	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	dyslexia susceptibility 2-like	451	PKD 2.|Extracellular (Potential).					cytoplasmic vesicle part|integral to membrane	protein binding			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCTTCTCTTAGAGGCCCCTTA	0.383													C	35925982	G	C	35925982	3	2	104	1	0	0	0	0	1	0	0	0	8169	933	33	5	1850	5	KIAA0319L	1	35925982	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	73375	35925982	213324639	121	66735											
EIF2C4	192670	broad.mit.edu	37	chr1	36301555	36301555	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctgaagataaatgcaaAacttggaggaattaacaatg	9	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:36301555A>G	uc001bzj.1	+	13	1875	c.1685A>G	c.(1684-1686)AAA>AGA	p.K562R		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	eukaryotic translation initiation factor 2C, 4	562	Piwi.				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)				ATAAATGCAAAACTTGGAGGA	0.348													G	36301555	A	G	36301555	3	3	104	1	0	0	0	0	1	0	0	0	5008	14	1	3	1735	3	EIF2C4	1	36301555	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	375573	36301555	212949066	122	66736											
EIF2C3	192669	broad.mit.edu	37	chr1	36499775	36499775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttgcatctattccatagCggaagtgaaacgtgtaggag	12	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:36499775C>T	uc001bzp.2	+	13	1848	c.1592C>T	c.(1591-1593)GCG>GTG	p.A531V	EIF2C3_uc001bzq.2_Missense_Mutation_p.A297V	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	531	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)				TATTCCATAGCGGAAGTGAAA	0.353													T	36499775	C	T	36499775	3	4	104	1	0	0	0	0	1	0	0	0	5007	782	27	1	1642	1	EIF2C3	1	36499775	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	198220	36499775	212750846	123	66737											
THRAP3	9967	broad.mit.edu	37	chr1	36754728	36754728	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacaaacaaataccgataaaGaaaaaataaaagagaaaggg	7	4	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:36754728G>T	uc001cae.3	+	5	1332	c.1108G>T	c.(1108-1110)GAA>TAA	p.E370*	THRAP3_uc001caf.3_Nonsense_Mutation_p.E370*|THRAP3_uc001cag.1_Nonsense_Mutation_p.E370*	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	370					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TACCGATAAAGAAAAAATAAA	0.358			T	USP6	aneurysmal bone cysts								T	36754728	G	T	36754728	4	4	104	1	0	0	0	0	0	1	0	0	15871	943	33	5	1118	5	THRAP3	1	36754728	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	254953	36754728	212495893	124	66738											
OSCP1	127700	broad.mit.edu	37	chr1	36886172	36886172	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctcccatcagcctggccaaGaaattcagctcttctttagc	6	15	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:36886172G>A	uc001cap.2	-	9	976	c.894C>T	c.(892-894)TTC>TTT	p.F298F	OSCP1_uc001caq.2_Silent_p.F288F	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN	oxidored-nitro domain-containing protein isoform	298					transport	basal plasma membrane				ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCCTGGCCAAGAAATTCAGCT	0.438											OREG0013368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	36886172	G	A	36886172	2	1	104	1	0	0	0	0	0	0	0	1	11286	933	33	4		4	OSCP1	1	36886172	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	131444	36886172	212364449	125	66739											
MRPS15	64960	broad.mit.edu	37	chr1	36926331	36926331	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtcctctgggtttgcaAcaatcttcttcataaactgt	8	9	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:36926331A>C	uc001cas.2	-	5	511	c.347T>G	c.(346-348)GTT>GGT	p.V116G		NM_031280	NP_112570	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15 precursor	116					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGGTTTGCAACAATCTTCTT	0.502													C	36926331	A	C	36926331	3	2	104	1	0	0	0	0	1	0	0	0	9825	43	2	5	442	5	MRPS15	1	36926331	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	40159	36926331	212324290	126	66740											
GRIK3	2899	broad.mit.edu	37	chr1	37319226	37319226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccacgcaccttctccaggCcatcctctttcaggctgatg	8	16	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:37319226C>T	uc001caz.2	-	8	1337	c.1202G>A	c.(1201-1203)GGC>GAC	p.G401D	GRIK3_uc001cba.1_Missense_Mutation_p.G401D	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	401	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CTTCTCCAGGCCATCCTCTTT	0.537													T	37319226	C	T	37319226	3	4	104	1	0	0	0	0	1	0	0	0	6775	739	26	2	1593	2	GRIK3	1	37319226	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	392895	37319226	211931395	127	66741											
GRIK3	2899	broad.mit.edu	37	chr1	37337828	37337828	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccatagtgtggctgcagtcGaagataatgcggaattcccg	13	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:37337828G>A	uc001caz.2	-	4	828	c.693C>T	c.(691-693)TTC>TTT	p.F231F	GRIK3_uc001cba.1_Silent_p.F231F	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	231	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGCTGCAGTCGAAGATAATGC	0.607													A	37337828	G	A	37337828	2	1	104	1	0	0	0	0	0	0	0	1	6775	1049	37	1		1	GRIK3	1	37337828	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	18602	37337828	211912793	128	66742											
CDCA8	55143	broad.mit.edu	37	chr1	38172656	38172656	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctttctattcagagcctgCgattattggccagtgacttg	9	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:38172656C>T	uc001cbr.2	+	10	825	c.718C>T	c.(718-720)CGA>TGA	p.R240*	CDCA8_uc001cbs.2_Nonsense_Mutation_p.R240*	NM_018101	NP_060571	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	240					cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCAGAGCCTGCGATTATTGGC	0.522													T	38172656	C	T	38172656	4	4	104	1	0	0	0	0	0	1	0	0	3092	760	27	1	752	1	CDCA8	1	38172656	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	834828	38172656	211077965	129	66743											
RRAGC	64121	broad.mit.edu	37	chr1	39305238	39305238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attcagactagatggcgtttCgtggcgtgccattgtgtgtc	13	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:39305238C>T	uc001ccq.2	-	7	1209	c.1187G>A	c.(1186-1188)CGA>CAA	p.R396Q	RRAGC_uc010oim.1_Missense_Mutation_p.R362Q|RRAGC_uc001ccr.2_Missense_Mutation_p.R318Q	NM_022157	NP_071440	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	396					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				GATGGCGTTTCGTGGCGTGCC	0.562													T	39305238	C	T	39305238	3	4	104	1	0	0	0	0	1	0	0	0	13674	884	31	1	16	1	RRAGC	1	39305238	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1132582	39305238	209945383	130	66744											
GJA9	81025	broad.mit.edu	37	chr1	39341360	39341360	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttccttttctccagctgAcaaagctcttgctccaatct	5	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:39341360A>G	uc001cct.1	-	2	692	c.411T>C	c.(409-411)TGT>TGC	p.C137C	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	NM_030772	NP_110399	P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	137	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane					0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TCTCCAGCTGACAAAGCTCTT	0.443													G	39341360	A	G	39341360	2	3	104	1	0	0	0	0	0	0	0	1	6406	273	10	3		3	GJA9	1	39341360	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	36122	39341360	209909261	131	66745											
RHBDL2	54933	broad.mit.edu	37	chr1	39358897	39358897	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggaatcatttcttgaaaattCttaaaaagagataaataata	5	3	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:39358897C>A	uc001ccu.1	-	6	838	c.610_splice	c.e6-1	p.N204_splice	RHBDL2_uc010oin.1_Splice_Site_p.N204_splice|RHBDL2_uc010oio.1_Splice_Site_p.N284_splice	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	rhomboid protease 2						proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity				0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CTTGAAAATTCTTAAAAAGAG	0.299													A	39358897	C	A	39358897	5	1	104	1	0	0	0	0	0	0	1	0	13322	927	32	5	314	5	RHBDL2	1	39358897	Splice_Site	SNP	C	TCGA-BR-8680-01A-11D-2394-08	17537	39358897	209891724	132	66746											
MACF1	23499	broad.mit.edu	37	chr1	39749819	39749819	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagcatacaatactgatgTcagataaaacttttccccaa	4	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:39749819T>C	uc010ois.1	+	11	1217	c.1012T>C	c.(1012-1014)TCA>CCA	p.S338P	MACF1_uc001cda.1_Missense_Mutation_p.S246P	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	338					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATACTGATGTCAGATAAAAC	0.408													C	39749819	T	C	39749819	3	2	104	1	0	0	0	0	1	0	0	0	9144	1667	58	3	1046	3	MACF1	1	39749819	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	390922	39749819	209500802	133	66747											
MACF1	23499	broad.mit.edu	37	chr1	39757662	39757662	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acacagcagcacatccatacGagtgtagaagagctgggctc	11	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:39757662G>A	uc010ois.1	+	17	2086	c.1881G>A	c.(1879-1881)ACG>ACA	p.T627T	MACF1_uc001cda.1_Silent_p.T535T	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	627					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACATCCATACGAGTGTAGAAG	0.493													A	39757662	G	A	39757662	2	1	104	1	0	0	0	0	0	0	0	1	9144	1045	37	1		1	MACF1	1	39757662	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	7843	39757662	209492959	134	66748											
MACF1	23499	broad.mit.edu	37	chr1	39775246	39775246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgtgttatttctagggtcGaacaatcttatcagaaggtt	9	6	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:39775246G>A	uc010ois.1	+	25	3014	c.2809G>A	c.(2809-2811)GAA>AAA	p.E937K	MACF1_uc001cda.1_Missense_Mutation_p.E845K|MACF1_uc001cdc.1_Missense_Mutation_p.E24K|MACF1_uc009vvq.1_5'UTR|MACF1_uc001cdb.1_Missense_Mutation_p.E24K	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	937					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTCTAGGGTCGAACAATCTTA	0.408													A	39775246	G	A	39775246	3	1	104	1	0	0	0	0	1	0	0	0	9144	1059	37	1	2899	1	MACF1	1	39775246	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	17584	39775246	209475375	135	66749											
MACF1	23499	broad.mit.edu	37	chr1	39785358	39785358	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctatttgcagaaattgagaGaaatcagacaaaactggatc	8	7	1	4	rs139099001		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:39785358G>A	uc010ois.1	+	32	4188	c.3983G>A	c.(3982-3984)AGA>AAA	p.R1328K	MACF1_uc001cda.1_Missense_Mutation_p.R1236K|MACF1_uc001cdc.1_Missense_Mutation_p.R415K|MACF1_uc009vvq.1_Missense_Mutation_p.R385K|MACF1_uc001cdb.1_Missense_Mutation_p.R415K	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1328					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAATTGAGAGAAATCAGACA	0.353													A	39785358	G	A	39785358	3	1	104	1	0	0	0	0	1	0	0	0	9144	942	33	4	4101	4	MACF1	1	39785358	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	10112	39785358	209465263	136	66750											
MACF1	23499	broad.mit.edu	37	chr1	39797149	39797149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcttactgagagcagagGccctctttctgtggtggaag	14	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:39797149G>A	uc010oiu.1	+	1	340	c.209G>A	c.(208-210)GGC>GAC	p.G70D	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1635					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGAGCAGAGGCCCTCTTTCT	0.488													A	39797149	G	A	39797149	3	1	104	1	0	0	0	0	1	0	0	0	9144	1203	42	2	4980	2	MACF1	1	39797149	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	11791	39797149	209453472	137	66751											
MACF1	23499	broad.mit.edu	37	chr1	39797279	39797279	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaactgtattaacctggaAgaggcttttcatcaaggcct	10	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:39797279A>C	uc010oiu.1	+	1	470	c.339A>C	c.(337-339)GAA>GAC	p.E113D	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1678	Plectin 2.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTAACCTGGAAGAGGCTTTTC	0.413													C	39797279	A	C	39797279	3	2	104	1	0	0	0	0	1	0	0	0	9144	69	3	5	5110	5	MACF1	1	39797279	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	130	39797279	209453342	138	66752											
MACF1	23499	broad.mit.edu	37	chr1	39801293	39801293	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attagagatgagcatgactcCcatataaagagccaacctag	8	9	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:39801293C>A	uc010oiu.1	+	1	4484	c.4353C>A	c.(4351-4353)TCC>TCA	p.S1451S	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3016					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGCATGACTCCCATATAAAGA	0.378													A	39801293	C	A	39801293	2	1	104	1	0	0	0	0	0	0	0	1	9144	610	22	5		5	MACF1	1	39801293	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4014	39801293	209449328	139	66753											
MACF1	23499	broad.mit.edu	37	chr1	39802891	39802891	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actctgtttagaacatgatgAaaagctagtatcctatctgt	7	7	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:39802891A>G	uc010oiu.1	+	2	5554	c.5423A>G	c.(5422-5424)GAA>GGA	p.E1808G	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3373					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAACATGATGAAAAGCTAGTA	0.423													G	39802891	A	G	39802891	3	3	104	1	0	0	0	0	1	0	0	0	9144	246	9	3	10198	3	MACF1	1	39802891	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1598	39802891	209447730	140	66754											
MACF1	23499	broad.mit.edu	37	chr1	39851600	39851600	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggtttagaagaccttgcAggtaagttggggtgaagaac	14	5	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:39851600A>C	uc010oiu.1	+	21	9794	c.9663A>C	c.(9661-9663)GCA>GCC	p.A3221A	MACF1_uc010ois.1_Silent_p.A2719A|MACF1_uc001cda.1_Silent_p.A2606A|MACF1_uc001cdc.1_Silent_p.A1785A	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4786	LRR 18.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGACCTTGCAGGTAAGTTGG	0.463													C	39851600	A	C	39851600	2	2	104	1	0	0	0	0	0	0	0	1	9144	202	7	5		5	MACF1	1	39851600	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	48709	39851600	209399021	141	66755											
MACF1	23499	broad.mit.edu	37	chr1	39907927	39907927	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacggacagagacattataCgagaaccactgacagaactc	9	10	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:39907927C>T	uc010oiu.1	+	41	14343	c.14212C>T	c.(14212-14214)CGA>TGA	p.R4738*	MACF1_uc010ois.1_Nonsense_Mutation_p.R4236*	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	6303	Spectrin 12.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGACATTATACGAGAACCACT	0.448													T	39907927	C	T	39907927	4	4	104	1	0	0	0	0	0	1	0	0	9144	528	19	1	19143	1	MACF1	1	39907927	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	56327	39907927	209342694	142	66756											
MACF1	23499	broad.mit.edu	37	chr1	39910339	39910339	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgccttttcttgtaggaactCtattcccagctgaaagccaa	7	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:39910339C>T	uc010oiu.1	+	45	14897	c.14766C>T	c.(14764-14766)CTC>CTT	p.L4922L	MACF1_uc010ois.1_Silent_p.L4420L	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTAGGAACTCTATTCCCAGC	0.448													T	39910339	C	T	39910339	2	4	104	1	0	0	0	0	0	0	0	1	9144	900	32	4		4	MACF1	1	39910339	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2412	39910339	209340282	143	66757											
NT5C1A	84618	broad.mit.edu	37	chr1	40124988	40124988	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaaggaacaaggcttcAtctgtctccaggccccagct	9	15	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:40124988A>G	uc001cdq.1	-	6	912	c.912T>C	c.(910-912)GAT>GAC	p.D304D		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	304					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACAAGGCTTCATCTGTCTCCA	0.602													G	40124988	A	G	40124988	2	3	104	1	0	0	0	0	0	0	0	1	10685	214	8	3		3	NT5C1A	1	40124988	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	214649	40124988	209125633	144	66758											
NT5C1A	84618	broad.mit.edu	37	chr1	40131295	40131295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatcagggtacagctcccGcagccgcctgttcacggcct	10	16	2	0	rs144180251		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:40131295G>A	uc001cdq.1	-	3	331	c.331C>T	c.(331-333)CGG>TGG	p.R111W		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	111					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TACAGCTCCCGCAGCCGCCTG	0.557													A	40131295	G	A	40131295	3	1	104	1	0	0	0	0	1	0	0	0	10685	1086	38	1	791	1	NT5C1A	1	40131295	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	6307	40131295	209119326	145	66759											
RLF	6018	broad.mit.edu	37	chr1	40701665	40701665	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atggatttaatatgttagaaGaactatatttgcaaccagat	7	4	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:40701665G>T	uc001cfc.3	+	8	1322	c.1291G>T	c.(1291-1293)GAA>TAA	p.E431*	RLF_uc001cfd.3_Nonsense_Mutation_p.E122*	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	431					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TATGTTAGAAGAACTATATTT	0.373													T	40701665	G	T	40701665	4	4	104	1	0	0	0	0	0	1	0	0	13389	943	33	5	1321	5	RLF	1	40701665	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	570370	40701665	208548956	146	66760											
RLF	6018	broad.mit.edu	37	chr1	40705137	40705137	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcaacagatggagaatcTtgttgtttgcgttaagtacg	12	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:40705137T>G	uc001cfc.3	+	8	4794	c.4763T>G	c.(4762-4764)CTT>CGT	p.L1588R	RLF_uc001cfd.3_Missense_Mutation_p.L1279R	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1588					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATGGAGAATCTTGTTGTTTGC	0.423													G	40705137	T	G	40705137	3	3	104	1	0	0	0	0	1	0	0	0	13389	1609	56	5	4793	5	RLF	1	40705137	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	3472	40705137	208545484	147	66761											
ZMPSTE24	10269	broad.mit.edu	37	chr1	40758159	40758159	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctaagccgcagatttgagTttcaagctgatgcatttgcc	9	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:40758159T>G	uc001cfg.2	+	10	1457	c.1246T>G	c.(1246-1248)TTT>GTT	p.F416V		NM_005857	NP_005848	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	416						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity				0	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CAGATTTGAGTTTCAAGCTGA	0.383													G	40758159	T	G	40758159	3	3	104	1	0	0	0	0	1	0	0	0	17695	1725	60	5	1284	5	ZMPSTE24	1	40758159	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	53022	40758159	208492462	148	66762											
ZNF643	65243	broad.mit.edu	37	chr1	40922718	40922718	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taccgggaggtgatgctggaGaactatgggaacctggtctc	15	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:40922718G>T	uc001cfn.1	+	3	612	c.315G>T	c.(313-315)GAG>GAT	p.E105D	ZNF643_uc001cfl.1_Missense_Mutation_p.E3D|ZNF643_uc001cfm.1_5'UTR	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	zinc finger protein 643	105	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			TGATGCTGGAGAACTATGGGA	0.488													T	40922718	G	T	40922718	3	4	104	1	0	0	0	0	1	0	0	0	18056	933	33	5	325	5	ZNF643	1	40922718	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	164559	40922718	208327903	149	66763											
CTPS	1503	broad.mit.edu	37	chr1	41475885	41475885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccctgactctgaaatcaccGaactgaagtttccatcaata	5	13	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:41475885G>A	uc001cgk.3	+	18	2252	c.1744G>A	c.(1744-1746)GAA>AAA	p.E582K	CTPS_uc010ojo.1_Missense_Mutation_p.E351K|CTPS_uc001cgl.3_Missense_Mutation_p.E582K|CTPS_uc010ojq.1_Missense_Mutation_p.E426K|CTPS_uc009vwe.2_Missense_Mutation_p.E251K	NM_001905	NP_001896	P17812	PYRG1_HUMAN	CTP synthase	582					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding				0	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)			L-Glutamine(DB00130)	TGAAATCACCGAACTGAAGTT	0.408													A	41475885	G	A	41475885	3	1	104	1	0	0	0	0	1	0	0	0	4022	1059	37	1	1810	1	CTPS	1	41475885	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	553167	41475885	207774736	150	66764											
EDN2	1907	broad.mit.edu	37	chr1	41949772	41949772	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagtagacgcactccttgTcgagccaggagctgcaggag	14	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:41949772T>C	uc001cgx.2	-	2	239	c.167A>G	c.(166-168)GAC>GGC	p.D56G	EDN2_uc001cgu.2_RNA|EDN2_uc001cgv.2_RNA|EDN2_uc009vwh.2_5'UTR|EDN2_uc001cgw.2_RNA|EDN2_uc009vwi.2_RNA|EDN2_uc009vwj.2_RNA	NM_001956	NP_001947	P20800	EDN2_HUMAN	endothelin 2 preproprotein	56					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity				0	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCACTCCTTGTCGAGCCAGGA	0.632													C	41949772	T	C	41949772	3	2	104	1	0	0	0	0	1	0	0	0	4917	1667	58	3	385	3	EDN2	1	41949772	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	473887	41949772	207300849	151	66765											
HIVEP3	59269	broad.mit.edu	37	chr1	42049380	42049380	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgcttaagcggagggccagCttctgcttaatcgtgtgggt	14	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:42049380C>A	uc001cgz.3	-	4	2302	c.1089G>T	c.(1087-1089)AAG>AAT	p.K363N	HIVEP3_uc001cha.3_Missense_Mutation_p.K363N|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	363	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGAGGGCCAGCTTCTGCTTAA	0.557													A	42049380	C	A	42049380	3	1	104	1	0	0	0	0	1	0	0	0	7188	796	28	5	6155	5	HIVEP3	1	42049380	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	99608	42049380	207201241	152	66766											
RIMKLA	284716	broad.mit.edu	37	chr1	42880351	42880351	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacttagatgtgggtgggatCattgcagactataccatgtc	11	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:42880351C>A	uc001chi.2	+	5	1020	c.882C>A	c.(880-882)ATC>ATA	p.I294I		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family	294	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						TGGGTGGGATCATTGCAGACT	0.512													A	42880351	C	A	42880351	2	1	104	1	0	0	0	0	0	0	0	1	13365	816	29	5		5	RIMKLA	1	42880351	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	830971	42880351	206370270	153	66767											
ZMYND12	84217	broad.mit.edu	37	chr1	42914271	42914271	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcccttcaaagaggtaTttctgggctatggtgtagca	11	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:42914271T>G	uc001chj.2	-	3	561	c.291A>C	c.(289-291)AAA>AAC	p.K97N	ZMYND12_uc010ojt.1_Intron	NM_032257	NP_115633	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12 isoform 1	97						intracellular	zinc ion binding			ovary(1)	1	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAAAGAGGTATTTCTGGGCTA	0.463													G	42914271	T	G	42914271	3	3	104	1	0	0	0	0	1	0	0	0	17704	1490	52	5	830	5	ZMYND12	1	42914271	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	33920	42914271	206336350	154	66768											
CCDC30	728621	broad.mit.edu	37	chr1	43011180	43011180	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caagtgaaaatacctgtaaaGatcctgaatctaatgaacca	6	8	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:43011180G>T	uc009vwk.1	+	4	465	c.355G>T	c.(355-357)GAT>TAT	p.D119Y	CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Intron|CCDC30_uc010oju.1_RNA|CCDC30_uc001chp.2_Intron	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	119											0						TACCTGTAAAGATCCTGAATC	0.338													T	43011180	G	T	43011180	3	4	104	1	0	0	0	0	1	0	0	0	2805	942	33	5	365	5	CCDC30	1	43011180	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	96909	43011180	206239441	155	66769											
SLC2A1	6513	broad.mit.edu	37	chr1	43396474	43396474	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaaaggacttgcccagtttCgagaagcccatgagcacggc	11	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:43396474C>T	uc001cik.2	-	4	864	c.339G>A	c.(337-339)TCG>TCA	p.S113S		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	113	Helical; Name=3; (Potential).				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TGCCCAGTTTCGAGAAGCCCA	0.587													T	43396474	C	T	43396474	2	4	104	1	0	0	0	0	0	0	0	1	14538	871	31	1		1	SLC2A1	1	43396474	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	385294	43396474	205854147	156	66770											
WDR65	149465	broad.mit.edu	37	chr1	43647389	43647389	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaaatttattagcatggcTttttctccagactccaaata	5	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:43647389T>G	uc001cip.1	+	3	463	c.342T>G	c.(340-342)GCT>GCG	p.A114A	EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Silent_p.A103A|WDR65_uc001ciq.1_Silent_p.A114A	NM_152498	NP_689711	Q96MR6	WDR65_HUMAN	WD repeat domain 65	114	WD 1.									skin(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTAGCATGGCTTTTTCTCCAG	0.408													G	43647389	T	G	43647389	2	3	104	1	0	0	0	0	0	0	0	1	17313	1596	56	5		5	WDR65	1	43647389	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	250915	43647389	205603232	157	66771											
TIE1	7075	broad.mit.edu	37	chr1	43775110	43775110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagctgagttcgaggtgCcccgcttggttcttgcggac	13	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:43775110C>T	uc001ciu.2	+	9	1319	c.1240C>T	c.(1240-1242)CCC>TCC	p.P414S	TIE1_uc010okd.1_Missense_Mutation_p.P414S|TIE1_uc010oke.1_Missense_Mutation_p.P369S|TIE1_uc009vwq.2_Missense_Mutation_p.P370S|TIE1_uc010okf.1_Missense_Mutation_p.P59S|TIE1_uc010okg.1_Missense_Mutation_p.P59S|TIE1_uc010okc.1_3'UTR	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	414	Ig-like C2-type 2.|Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTTCGAGGTGCCCCGCTTGGT	0.592													T	43775110	C	T	43775110	3	4	104	1	0	0	0	0	1	0	0	0	15890	739	26	2	1274	2	TIE1	1	43775110	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	127721	43775110	205475511	158	66772											
KIAA0467	23334	broad.mit.edu	37	chr1	43908278	43908278	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagttggacttccccgtgCgagatgaaaaggtgcctgct	13	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:43908278C>T	uc001cjk.1	+	43	5905	c.5443C>T	c.(5443-5445)CGA>TGA	p.R1815*		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2714						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTTCCCCGTGCGAGATGAAAA	0.517													T	43908278	C	T	43908278	4	4	104	1	0	0	0	0	0	1	0	0	8178	760	27	1	5605	1	KIAA0467	1	43908278	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	133168	43908278	205342343	159	66773											
KDM4A	9682	broad.mit.edu	37	chr1	44156616	44156616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccagaaatgtgcttcacttCgactggctgcagcacggaca	10	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:44156616C>T	uc001cjx.2	+	14	2304	c.2138C>T	c.(2137-2139)TCG>TTG	p.S713L	KDM4A_uc010oki.1_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	jumonji domain containing 2A	713	PHD-type 1.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1						TGCTTCACTTCGACTGGCTGC	0.493													T	44156616	C	T	44156616	3	4	104	1	0	0	0	0	1	0	0	0	8128	893	31	1	2188	1	KDM4A	1	44156616	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	248338	44156616	205094005	160	66774											
SLC6A9	6536	broad.mit.edu	37	chr1	44463386	44463386	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcagggccccagtctctgCttggctttgtggcatttttc	13	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:44463386C>A	uc001cll.2	-	14	2144	c.1952G>T	c.(1951-1953)AGC>ATC	p.S651I	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.2_Missense_Mutation_p.S597I|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.S582I|SLC6A9_uc001cln.2_Missense_Mutation_p.S578I|SLC6A9_uc010oko.1_Missense_Mutation_p.S467I	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	651	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCAGTCTCTGCTTGGCTTTGT	0.657													A	44463386	C	A	44463386	3	1	104	1	0	0	0	0	1	0	0	0	14691	797	28	5	172	5	SLC6A9	1	44463386	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	306770	44463386	204787235	161	66775											
TMEM53	79639	broad.mit.edu	37	chr1	45120404	45120404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctctggccaggactacttCgtcagccctcgagtagaggt	12	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:45120404C>T	uc001cmc.2	-	3	697	c.661G>A	c.(661-663)GAA>AAA	p.E221K	TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_Missense_Mutation_p.E148K|TMEM53_uc009vxh.1_Missense_Mutation_p.E104K|TMEM53_uc010ola.1_Missense_Mutation_p.E104K	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	221						integral to membrane				ovary(2)	2	Acute lymphoblastic leukemia(166;0.155)					AGGACTACTTCGTCAGCCCTC	0.612													T	45120404	C	T	45120404	3	4	104	1	0	0	0	0	1	0	0	0	16176	893	31	1	176	1	TMEM53	1	45120404	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	657018	45120404	204130217	162	66776											
PTCH2	8643	broad.mit.edu	37	chr1	45292046	45292046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagttccactgtcatcatcGccaggaccagcacctgaggg	11	13	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:45292046G>A	uc010olf.1	-	19	3002	c.2990C>T	c.(2989-2991)GCG>GTG	p.A997V	PTCH2_uc010olg.1_Missense_Mutation_p.A695V	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	997	Helical; (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					TGTCATCATCGCCAGGACCAG	0.602									Basal_Cell_Nevus_syndrome				A	45292046	G	A	45292046	3	1	104	1	0	0	0	0	1	0	0	0	12731	1087	38	1	657	1	PTCH2	1	45292046	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	171642	45292046	203958575	163	66777											
PRDX1	5052	broad.mit.edu	37	chr1	45977024	45977024	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttctgcttggagaaatattCtttgctcttttggacatcag	8	8	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:45977024C>A	uc001cnz.2	-	5	609	c.577G>T	c.(577-579)GAA>TAA	p.E193*	PRDX1_uc001coa.2_Nonsense_Mutation_p.E193*|PRDX1_uc001cob.2_Nonsense_Mutation_p.E193*|PRDX1_uc001coc.2_Nonsense_Mutation_p.E193*	NM_181697	NP_859048	Q06830	PRDX1_HUMAN	peroxiredoxin 1	193					cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity				0	Acute lymphoblastic leukemia(166;0.155)					GAGAAATATTCTTTGCTCTTT	0.463													A	45977024	C	A	45977024	4	1	104	1	0	0	0	0	0	1	0	0	12464	922	32	5	26	5	PRDX1	1	45977024	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	684978	45977024	203273597	164	66778											
NASP	4678	broad.mit.edu	37	chr1	46073549	46073549	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaaggtagttacctctgaAaacgaggcaggaaaggcggt	15	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:46073549A>C	uc001coi.1	+	6	1068	c.966A>C	c.(964-966)GAA>GAC	p.E322D	NASP_uc010olq.1_Missense_Mutation_p.E285D|NASP_uc001coh.1_Missense_Mutation_p.E324D|NASP_uc001coj.1_Intron|NASP_uc010olr.1_Missense_Mutation_p.E258D|NASP_uc001cok.1_Missense_Mutation_p.E205D	NM_002482	NP_002473	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein isoform 2	322	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					TTACCTCTGAAAACGAGGCAG	0.547													C	46073549	A	C	46073549	3	2	104	1	0	0	0	0	1	0	0	0	10172	11	1	5	1065	5	NASP	1	46073549	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	96525	46073549	203177072	165	66779											
MAST2	23139	broad.mit.edu	37	chr1	46496777	46496777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcaggcctcctggatgCgcctcggttcccggagggcc	14	16	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:46496777C>T	uc001cov.2	+	23	3090	c.2807C>T	c.(2806-2808)GCG>GTG	p.A936V	MAST2_uc001cow.2_Missense_Mutation_p.A936V|MAST2_uc001coy.1_Missense_Mutation_p.A610V|MAST2_uc001cpa.2_RNA	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	936					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTCCTGGATGCGCCTCGGTTC	0.627													T	46496777	C	T	46496777	3	4	104	1	0	0	0	0	1	0	0	0	9325	768	27	1	2897	1	MAST2	1	46496777	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	423228	46496777	202753844	166	66780											
PIK3R3	8503	broad.mit.edu	37	chr1	46521530	46521530	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttgatgctattcatttttTtatctatttctcggttgtcc	6	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:46521530T>G	uc001cpb.3	-	7	1634	c.878A>C	c.(877-879)AAA>ACA	p.K293T	PIK3R3_uc009vyb.2_Intron|PIK3R3_uc009vyc.2_Missense_Mutation_p.K310T|PIK3R3_uc001cpc.3_Missense_Mutation_p.K293T|PIK3R3_uc010olw.1_Missense_Mutation_p.K339T|PIK3R3_uc010olv.1_Missense_Mutation_p.K83T	NM_003629	NP_003620	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3	293					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					ATTCATTTTTTTATCTATTTC	0.413													G	46521530	T	G	46521530	3	3	104	1	0	0	0	0	1	0	0	0	11920	1841	64	5	523	5	PIK3R3	1	46521530	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	24753	46521530	202729091	167	66781											
PIK3R3	8503	broad.mit.edu	37	chr1	46531771	46531771	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacagcctatcatactctttActcttctcctgatactgaga	4	12	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:46531771A>G	uc001cpb.3	-	5	1332	c.576T>C	c.(574-576)AGT>AGC	p.S192S	PIK3R3_uc009vyb.2_Silent_p.S192S|PIK3R3_uc009vyc.2_Silent_p.S209S|PIK3R3_uc001cpc.3_Silent_p.S192S|PIK3R3_uc010olw.1_Silent_p.S238S	NM_003629	NP_003620	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3	192					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					CATACTCTTTACTCTTCTCCT	0.323													G	46531771	A	G	46531771	2	3	104	1	0	0	0	0	0	0	0	1	11920	388	14	3		3	PIK3R3	1	46531771	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	10241	46531771	202718850	168	66782											
MKNK1	8569	broad.mit.edu	37	chr1	47027233	47027233	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caggagcttggagatgaggtCtttggcttcactggagatgt	15	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:47027233C>A	uc001cqb.2	-	12	1289	c.1045G>T	c.(1045-1047)GAC>TAC	p.D349Y	MKNK1_uc010omd.1_Missense_Mutation_p.D213Y|MKNK1_uc001cqc.2_Missense_Mutation_p.D308Y|MKNK1_uc009vyi.2_Missense_Mutation_p.D308Y|MKNK1_uc010ome.1_Missense_Mutation_p.D213Y|MKNK1_uc009vyj.2_3'UTR	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN	MAP kinase-interacting serine/threonine kinase 1	349	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2	Acute lymphoblastic leukemia(166;0.155)					GAGATGAGGTCTTTGGCTTCA	0.527													A	47027233	C	A	47027233	3	1	104	1	0	0	0	0	1	0	0	0	9604	913	32	5	364	5	MKNK1	1	47027233	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	495462	47027233	202223388	169	66783											
CYP4B1	1580	broad.mit.edu	37	chr1	47283819	47283819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtctttgactctctgcGcttttccactgagaatgcat	8	11	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:47283819G>A	uc001cqm.3	+	11	1370	c.1286G>A	c.(1285-1287)CGC>CAC	p.R429H	CYP4B1_uc001cqn.3_Missense_Mutation_p.R430H|CYP4B1_uc009vym.2_Missense_Mutation_p.R415H|CYP4B1_uc010omk.1_Missense_Mutation_p.R266H	NM_000779	NP_000770	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	429					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					GACTCTCTGCGCTTTTCCACT	0.572													A	47283819	G	A	47283819	3	1	104	1	0	0	0	0	1	0	0	0	4185	1087	38	1	1331	1	CYP4B1	1	47283819	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	256586	47283819	201966802	170	66784											
CYP4B1	1580	broad.mit.edu	37	chr1	47284422	47284422	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcaagatgccccagcttgTcctgcgctccaagaatggct	9	14	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:47284422T>C	uc001cqm.3	+	12	1556	c.1472T>C	c.(1471-1473)GTC>GCC	p.V491A	CYP4B1_uc001cqn.3_Missense_Mutation_p.V492A|CYP4B1_uc009vym.2_Missense_Mutation_p.V477A|CYP4B1_uc010omk.1_Missense_Mutation_p.V328A	NM_000779	NP_000770	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	491					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					CCCCAGCTTGTCCTGCGCTCC	0.577													C	47284422	T	C	47284422	3	2	104	1	0	0	0	0	1	0	0	0	4185	1667	58	3	1521	3	CYP4B1	1	47284422	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	603	47284422	201966199	171	66785											
CYP4Z1	199974	broad.mit.edu	37	chr1	47564769	47564769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcactgtattttttagagcGaaaacaccaaagatttctct	5	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:47564769G>A	uc001cqu.1	+	8	883	c.880G>A	c.(880-882)GAA>AAA	p.E294K		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	cytochrome P450 4Z1	294	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			skin(1)	1						TTTTTAGAGCGAAAACACCAA	0.368													A	47564769	G	A	47564769	3	1	104	1	0	0	0	0	1	0	0	0	4194	1059	37	1	910	1	CYP4Z1	1	47564769	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	280347	47564769	201685852	172	66786											
STIL	6491	broad.mit.edu	37	chr1	47735473	47735473	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcactggaaattttggtatCatcttgcttcatttgagagt	8	7	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:47735473C>T	uc001crc.1	-	14	2604	c.2449G>A	c.(2449-2451)GAT>AAT	p.D817N	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.D770N|STIL_uc010omo.1_Missense_Mutation_p.D817N|STIL_uc001crd.1_Missense_Mutation_p.D817N|STIL_uc001cre.1_Missense_Mutation_p.D817N|STIL_uc001crf.1_Missense_Mutation_p.D430N|STIL_uc001crg.1_Missense_Mutation_p.D770N	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	817					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ATTTTGGTATCATCTTGCTTC	0.368													T	47735473	C	T	47735473	3	4	104	1	0	0	0	0	1	0	0	0	15281	826	29	4	1433	4	STIL	1	47735473	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	170704	47735473	201515148	173	66787											
STIL	6491	broad.mit.edu	37	chr1	47746069	47746069	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtccatatgtgaaggcggTcttgccacaggcgatggttc	13	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:47746069T>C	uc001crc.1	-	12	2216	c.2061A>G	c.(2059-2061)AGA>AGG	p.R687R	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.R640R|STIL_uc010omo.1_Silent_p.R687R|STIL_uc001crd.1_Silent_p.R687R|STIL_uc001cre.1_Silent_p.R687R|STIL_uc001crf.1_Silent_p.R300R|STIL_uc001crg.1_Silent_p.R640R	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	687	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GTGAAGGCGGTCTTGCCACAG	0.483													C	47746069	T	C	47746069	2	2	104	1	0	0	0	0	0	0	0	1	15281	1664	58	3		3	STIL	1	47746069	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	10596	47746069	201504552	174	66788											
STIL	6491	broad.mit.edu	37	chr1	47767944	47767944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaccaagtaaaaagcatgacGaattttttttattctgctta	5	6	1	1	rs147160336	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:47767944G>A	uc001crc.1	-	4	382	c.227C>T	c.(226-228)TCG>TTG	p.S76L	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.S76L|STIL_uc010omo.1_Missense_Mutation_p.S76L|STIL_uc001crd.1_Missense_Mutation_p.S76L|STIL_uc001cre.1_Missense_Mutation_p.S76L|STIL_uc001crg.1_Missense_Mutation_p.S76L	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	76					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				AAAGCATGACGAATTTTTTTT	0.303													A	47767944	G	A	47767944	3	1	104	1	0	0	0	0	1	0	0	0	15281	1059	37	1	3695	1	STIL	1	47767944	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	21875	47767944	201482677	175	66789											
SPATA6	54558	broad.mit.edu	37	chr1	48821347	48821347	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attttagaaactaacatataAatgtctttgatgagcctgat	6	5	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:48821347A>C	uc001crr.1	-	11	1354	c.1189T>G	c.(1189-1191)TTA>GTA	p.L397V	SPATA6_uc001crs.1_Intron|SPATA6_uc010omv.1_Missense_Mutation_p.L383V	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6 precursor	397					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				ovary(1)	1						CTAACATATAAATGTCTTTGA	0.343													C	48821347	A	C	48821347	3	2	104	1	0	0	0	0	1	0	0	0	15012	11	1	5	289	5	SPATA6	1	48821347	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1053403	48821347	200429274	176	66790											
AGBL4	84871	broad.mit.edu	37	chr1	49100248	49100248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagggatccagccagtgacGattcagatcaaatcccatca	9	11	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:49100248G>A	uc001cru.2	-	9	1026	c.868C>T	c.(868-870)CGT>TGT	p.R290C	AGBL4_uc010omw.1_Missense_Mutation_p.R23C|AGBL4_uc010omx.1_Missense_Mutation_p.R302C|AGBL4_uc001crv.1_Missense_Mutation_p.R143C|AGBL4_uc010omy.1_Missense_Mutation_p.R113C	NM_032785	NP_116174	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	290					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		AGCCAGTGACGATTCAGATCA	0.463													A	49100248	G	A	49100248	3	1	104	1	0	0	0	0	1	0	0	0	377	1058	37	1	667	1	AGBL4	1	49100248	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	278901	49100248	200150373	177	66791											
EPS15	2060	broad.mit.edu	37	chr1	51826915	51826915	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagcagaagtgaatggatcAcaaaatatttcaggatcttt	9	5	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:51826915A>G	uc001csq.1	-	24	2564	c.2472T>C	c.(2470-2472)TGT>TGC	p.C824C	EPS15_uc009vyz.1_Silent_p.C690C|EPS15_uc001csp.3_Silent_p.C510C	NM_001981	NP_001972	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway	824	15 X 3 AA repeats of D-P-F.|Pro-rich.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding			lung(1)|kidney(1)	2						TGAATGGATCACAAAATATTT	0.413			T	MLL	ALL								G	51826915	A	G	51826915	2	3	104	1	0	0	0	0	0	0	0	1	5192	157	6	3		3	EPS15	1	51826915	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2726667	51826915	197423706	178	66792											
OSBPL9	114883	broad.mit.edu	37	chr1	52253122	52253122	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagacaaagagcagaagccCgagaaaggaaggagaaggaa	14	5	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:52253122C>T	uc001cst.2	+	23	2117	c.2098C>T	c.(2098-2100)CGA>TGA	p.R700*	OSBPL9_uc001css.2_Nonsense_Mutation_p.R705*|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Nonsense_Mutation_p.R701*|OSBPL9_uc001csu.2_Nonsense_Mutation_p.R710*|OSBPL9_uc001csv.2_Nonsense_Mutation_p.R535*|OSBPL9_uc001csw.2_Nonsense_Mutation_p.R687*|OSBPL9_uc001csy.2_Nonsense_Mutation_p.R522*|OSBPL9_uc001csz.2_Nonsense_Mutation_p.R522*|OSBPL9_uc001cta.2_Nonsense_Mutation_p.R590*|OSBPL9_uc001ctb.2_Nonsense_Mutation_p.R485*	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9 isoform e	700					lipid transport		lipid binding			central_nervous_system(1)	1						AGCAGAAGCCCGAGAAAGGAA	0.448													T	52253122	C	T	52253122	4	4	104	1	0	0	0	0	0	1	0	0	11284	644	23	1	2292	1	OSBPL9	1	52253122	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	426207	52253122	196997499	179	66793											
NRD1	4898	broad.mit.edu	37	chr1	52263977	52263977	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaagagctgggatttgaattCtttgacgaagctcagcagag	12	6	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:52263977C>A	uc001ctc.3	-	24	3074	c.2752G>T	c.(2752-2754)GAA>TAA	p.E918*	NRD1_uc009vzb.2_Nonsense_Mutation_p.E613*|NRD1_uc001ctd.3_Nonsense_Mutation_p.E850*|NRD1_uc001cte.2_Nonsense_Mutation_p.E786*|NRD1_uc001ctf.2_Nonsense_Mutation_p.E850*|NRD1_uc010ong.1_RNA	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	849					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						GATTTGAATTCTTTGACGAAG	0.488													A	52263977	C	A	52263977	4	1	104	1	0	0	0	0	0	1	0	0	10645	922	32	5	947	5	NRD1	1	52263977	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	10855	52263977	196986644	180	66794											
NRD1	4898	broad.mit.edu	37	chr1	52272492	52272492	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggattttgaatttgttgtctTtcttataccacaggcaacct	7	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:52272492T>G	uc001ctc.3	-	20	2610	c.2288A>C	c.(2287-2289)AAA>ACA	p.K763T	NRD1_uc009vzb.2_Missense_Mutation_p.K458T|NRD1_uc001ctd.3_Missense_Mutation_p.K695T|NRD1_uc001cte.2_Missense_Mutation_p.K631T|NRD1_uc001ctf.2_Missense_Mutation_p.K695T|NRD1_uc010ong.1_RNA	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	694					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						TTTGTTGTCTTTCTTATACCA	0.284													G	52272492	T	G	52272492	3	3	104	1	0	0	0	0	1	0	0	0	10645	1841	64	5	1427	5	NRD1	1	52272492	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	8515	52272492	196978129	181	66795											
KTI12	112970	broad.mit.edu	37	chr1	52498747	52498747	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctaggcccaccaaagtgaaTaaaggccggtcccagcgatt	10	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:52498747T>G	uc001ctj.1	-	1	726	c.687A>C	c.(685-687)TTA>TTC	p.L229F	TXNDC12_uc001cti.2_Intron	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated	229							ATP binding			central_nervous_system(2)	2						CCAAAGTGAATAAAGGCCGGT	0.622													G	52498747	T	G	52498747	3	3	104	1	0	0	0	0	1	0	0	0	8584	1403	49	5	381	5	KTI12	1	52498747	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	226255	52498747	196751874	182	66796											
ZFYVE9	9372	broad.mit.edu	37	chr1	52703746	52703746	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggatccattgaatagaccGaaaacagaggggagatctgt	12	6	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:52703746G>A	uc001cto.2	+	4	829	c.657G>A	c.(655-657)CCG>CCA	p.P219P	ZFYVE9_uc001ctn.2_Silent_p.P219P|ZFYVE9_uc001ctp.2_Silent_p.P219P	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	219					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						TGAATAGACCGAAAACAGAGG	0.363													A	52703746	G	A	52703746	2	1	104	1	0	0	0	0	0	0	0	1	17668	1045	37	1		1	ZFYVE9	1	52703746	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	204999	52703746	196546875	183	66797											
CC2D1B	200014	broad.mit.edu	37	chr1	52822738	52822738	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgccttctgggagagtcGcaggtcctcatggtggatga	14	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:52822738G>A	uc001ctq.1	-	16	1969	c.1831C>T	c.(1831-1833)CGA>TGA	p.R611*	CC2D1B_uc001ctr.2_Nonsense_Mutation_p.R151*|CC2D1B_uc001cts.2_Nonsense_Mutation_p.R296*	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	611	Potential.									ovary(2)	2						TGGGAGAGTCGCAGGTCCTCA	0.597													A	52822738	G	A	52822738	4	1	104	1	0	0	0	0	0	1	0	0	2727	1095	38	1	781	1	CC2D1B	1	52822738	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	118992	52822738	196427883	184	66798											
ZCCHC11	23318	broad.mit.edu	37	chr1	52981601	52981601	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgatctctttctaagcgttCttctgcttgtttcaacccca	6	12	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:52981601C>A	uc001ctx.2	-	3	1078	c.844G>T	c.(844-846)GAA>TAA	p.E282*	ZCCHC11_uc001cty.2_Nonsense_Mutation_p.E282*|ZCCHC11_uc001ctz.2_Nonsense_Mutation_p.E282*|ZCCHC11_uc009vze.1_Nonsense_Mutation_p.E282*|ZCCHC11_uc009vzf.1_Nonsense_Mutation_p.E41*|ZCCHC11_uc001cub.2_Nonsense_Mutation_p.E282*|ZCCHC11_uc001cuc.2_RNA|ZCCHC11_uc001cud.2_Nonsense_Mutation_p.E282*	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	282					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						TCTAAGCGTTCTTCTGCTTGT	0.383													A	52981601	C	A	52981601	4	1	104	1	0	0	0	0	0	1	0	0	17577	922	32	5	4205	5	ZCCHC11	1	52981601	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	158863	52981601	196269020	185	66799											
SCP2	6342	broad.mit.edu	37	chr1	53443987	53443987	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaaattttggcacaagAaatgatgactgatttgccaa	10	5	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:53443987A>C	uc001cur.1	+	9	894	c.773A>C	c.(772-774)GAA>GCA	p.E258A	SCP2_uc001cus.1_RNA|SCP2_uc010ono.1_Missense_Mutation_p.E177A|SCP2_uc010onp.1_Missense_Mutation_p.E234A|SCP2_uc009vzi.1_Missense_Mutation_p.E214A|SCP2_uc001cuq.1_Missense_Mutation_p.E214A	NM_002979	NP_002970	P22307	NLTP_HUMAN	sterol carrier protein 2 isoform 1 proprotein	258					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)	1						TTGGCACAAGAAATGATGACT	0.378													C	53443987	A	C	53443987	3	2	104	1	0	0	0	0	1	0	0	0	13934	246	9	5	807	5	SCP2	1	53443987	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	462386	53443987	195806634	186	66800											
GLIS1	148979	broad.mit.edu	37	chr1	54060472	54060472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaaggtagcaggaaggcGcaggggtggcgaggcttcgg	20	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:54060472G>A	uc001cvr.1	-	3	671	c.104C>T	c.(103-105)GCG>GTG	p.A35V		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	35					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			skin(1)	1						GCAGGAAGGCGCAGGGGTGGC	0.716													A	54060472	G	A	54060472	3	1	104	1	0	0	0	0	1	0	0	0	6445	1087	38	1	1790	1	GLIS1	1	54060472	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	616485	54060472	195190149	187	66801											
C1orf175	374977	broad.mit.edu	37	chr1	55167779	55167779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcacgagaggtcgtgcGctcctcctgcatcaacctgt	11	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:55167779G>A	uc010ooe.1	+	20	3626	c.3302G>A	c.(3301-3303)CGC>CAC	p.R1101H	C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.R619H|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_Missense_Mutation_p.R303H	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	1101	HEAT 3.					integral to membrane	binding				0						GAGGTCGTGCGCTCCTCCTGC	0.617													A	55167779	G	A	55167779	3	1	104	1	0	0	0	0	1	0	0	0	2016	1087	38	1	3372	1	C1orf175	1	55167779	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1107307	55167779	194082842	188	66802											
USP24	23358	broad.mit.edu	37	chr1	55624658	55624658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagatccggttggaagcGcatgcaaagtaacttaacgg	11	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:55624658G>A	uc001cyg.3	-	9	784	c.784C>T	c.(784-786)CGC>TGC	p.R262C		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	374					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						GGTTGGAAGCGCATGCAAAGT	0.378													A	55624658	G	A	55624658	3	1	104	1	0	0	0	0	1	0	0	0	17052	1087	38	1	6978	1	USP24	1	55624658	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	456879	55624658	193625963	189	66803											
PRKAA2	5563	broad.mit.edu	37	chr1	57169927	57169927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatggatgatagtgccatgCatattcccccaggcctgaaa	9	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:57169927C>T	uc001cyk.3	+	7	1143	c.1072C>T	c.(1072-1074)CAT>TAT	p.H358Y		NM_006252	NP_006243	P54646	AAPK2_HUMAN	AMP-activated protein kinase alpha 2 catalytic	358					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(4)|ovary(1)|stomach(1)	6						TAGTGCCATGCATATTCCCCC	0.458													T	57169927	C	T	57169927	3	4	104	1	0	0	0	0	1	0	0	0	12494	710	25	2	1098	2	PRKAA2	1	57169927	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1545269	57169927	192080694	190	66804											
C1orf168	199920	broad.mit.edu	37	chr1	57192242	57192242	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttgggcttccacattttcAgtttatcttcatctctgagg	7	10	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:57192242A>G	uc001cym.3	-	16	2214	c.1808T>C	c.(1807-1809)CTG>CCG	p.L603P	C1orf168_uc009vzu.1_RNA|C1orf168_uc001cyl.2_RNA	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	hypothetical protein LOC199920	603										ovary(3)|skin(2)	5						CCACATTTTCAGTTTATCTTC	0.348													G	57192242	A	G	57192242	3	3	104	1	0	0	0	0	1	0	0	0	2012	188	7	3	398	3	C1orf168	1	57192242	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	22315	57192242	192058379	191	66805											
DAB1	1600	broad.mit.edu	37	chr1	57481012	57481012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccccggcatcacctgagCgactggtggctgggcaccca	13	16	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:57481012C>T	uc001cys.1	-	14	1662	c.988G>A	c.(988-990)GCT>ACT	p.A330T	DAB1_uc001cyt.1_Missense_Mutation_p.A328T|DAB1_uc001cyq.1_Missense_Mutation_p.A328T|DAB1_uc001cyr.1_Missense_Mutation_p.A244T|DAB1_uc009vzw.1_Missense_Mutation_p.A312T|DAB1_uc009vzx.1_Missense_Mutation_p.A330T	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	363					cell differentiation|nervous system development					skin(2)|ovary(1)	3						ATCACCTGAGCGACTGGTGGC	0.662													T	57481012	C	T	57481012	3	4	104	1	0	0	0	0	1	0	0	0	4217	768	27	1	691	1	DAB1	1	57481012	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	288770	57481012	191769609	192	66806											
MYSM1	114803	broad.mit.edu	37	chr1	59125684	59125684	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aataatcacattaacaattcCtttgtacagttctcttcggt	4	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:59125684C>A	uc009wab.1	-	20	2495	c.2472G>T	c.(2470-2472)AAG>AAT	p.K824N	uc001cza.2_5'Flank|MYSM1_uc009waa.1_Missense_Mutation_p.K230N|MYSM1_uc001czc.2_RNA	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	824					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(1)	1	all_cancers(7;9.36e-06)					TTAACAATTCCTTTGTACAGT	0.294													A	59125684	C	A	59125684	3	1	104	1	0	0	0	0	1	0	0	0	10101	680	24	5	18	5	MYSM1	1	59125684	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1644672	59125684	190124937	193	66807											
MYSM1	114803	broad.mit.edu	37	chr1	59154730	59154730	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagcccttgttcaaacagctCtttttcttctatcgtccact	4	14	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:59154730C>A	uc009wab.1	-	6	402	c.379G>T	c.(379-381)GAG>TAG	p.E127*	MYSM1_uc001czc.2_RNA|MYSM1_uc001czd.2_3'UTR	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	127	SANT.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(1)	1	all_cancers(7;9.36e-06)					TCAAACAGCTCTTTTTCTTCT	0.308													A	59154730	C	A	59154730	4	1	104	1	0	0	0	0	0	1	0	0	10101	922	32	5	2167	5	MYSM1	1	59154730	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	29046	59154730	190095891	194	66808											
INADL	10207	broad.mit.edu	37	chr1	62367109	62367109	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agggaagacgaacgcacttaAaactggagataaaatacttg	10	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:62367109A>C	uc001dab.2	+	24	3473	c.3359A>C	c.(3358-3360)AAA>ACA	p.K1120T	INADL_uc009waf.1_Missense_Mutation_p.K1120T|INADL_uc001daa.2_Missense_Mutation_p.K1120T|INADL_uc001dad.3_Missense_Mutation_p.K817T|INADL_uc001dac.2_RNA	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1120	PDZ 6.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						AACGCACTTAAAACTGGAGAT	0.338													C	62367109	A	C	62367109	3	2	104	1	0	0	0	0	1	0	0	0	7731	14	1	5	3449	5	INADL	1	62367109	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	3212379	62367109	186883512	195	66809											
INADL	10207	broad.mit.edu	37	chr1	62586964	62586964	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagatccttcccagaaaaatTcaggtattacacggacacac	6	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:62586964T>G	uc001dab.2	+	38	5116	c.5002T>G	c.(5002-5004)TCA>GCA	p.S1668A	INADL_uc001dac.2_RNA|INADL_uc009wag.2_Missense_Mutation_p.S452A	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1668					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						CCAGAAAAATTCAGGTATTAC	0.398													G	62586964	T	G	62586964	3	3	104	1	0	0	0	0	1	0	0	0	7731	1783	62	5	5148	5	INADL	1	62586964	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	219855	62586964	186663657	196	66810											
USP1	7398	broad.mit.edu	37	chr1	62910637	62910637	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cattctgaagactttaaagaGaaactcccaaaaggaaatgg	8	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:62910637G>T	uc001daj.1	+	6	1114	c.786G>T	c.(784-786)GAG>GAT	p.E262D	USP1_uc001dak.1_Missense_Mutation_p.E262D|USP1_uc001dal.1_Missense_Mutation_p.E262D	NM_001017415	NP_001017415	O94782	UBP1_HUMAN	ubiquitin specific protease 1	262					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)	1		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		ACTTTAAAGAGAAACTCCCAA	0.358													T	62910637	G	T	62910637	3	4	104	1	0	0	0	0	1	0	0	0	17037	933	33	5	804	5	USP1	1	62910637	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	323673	62910637	186339984	197	66811											
USP1	7398	broad.mit.edu	37	chr1	62910879	62910879	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttaaaataaattggttaaAgtctgcaactaagcaaccca	6	7	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:62910879A>C	uc001daj.1	+	6	1356	c.1028A>C	c.(1027-1029)AAG>ACG	p.K343T	USP1_uc001dak.1_Missense_Mutation_p.K343T|USP1_uc001dal.1_Missense_Mutation_p.K343T	NM_001017415	NP_001017415	O94782	UBP1_HUMAN	ubiquitin specific protease 1	343					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)	1		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AATTGGTTAAAGTCTGCAACT	0.328													C	62910879	A	C	62910879	3	2	104	1	0	0	0	0	1	0	0	0	17037	72	3	5	1046	5	USP1	1	62910879	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	242	62910879	186339742	198	66812											
DOCK7	85440	broad.mit.edu	37	chr1	62979530	62979530	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagacagatcaaaaggcttcGacttgattctgctgaaaagg	10	7	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:62979530G>A	uc001daq.2	-	32	4010	c.3976C>T	c.(3976-3978)CGA>TGA	p.R1326*	DOCK7_uc001dan.2_Nonsense_Mutation_p.R1187*|DOCK7_uc001dao.2_Nonsense_Mutation_p.R1187*|DOCK7_uc001dap.2_Nonsense_Mutation_p.R1295*|DOCK7_uc001dam.2_Nonsense_Mutation_p.R506*|DOCK7_uc010oov.1_Intron	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1326					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						AAAAGGCTTCGACTTGATTCT	0.408													A	62979530	G	A	62979530	4	1	104	1	0	0	0	0	0	1	0	0	4692	1066	37	1	2522	1	DOCK7	1	62979530	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	68651	62979530	186271091	199	66813											
DOCK7	85440	broad.mit.edu	37	chr1	63024812	63024812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctaagttattttccatgattCgcatgtccccaattcggact	6	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:63024812C>T	uc001daq.2	-	20	2313	c.2279G>A	c.(2278-2280)CGA>CAA	p.R760Q	DOCK7_uc001dan.2_Missense_Mutation_p.R652Q|DOCK7_uc001dao.2_Missense_Mutation_p.R652Q|DOCK7_uc001dap.2_Missense_Mutation_p.R760Q	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	760	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						TTCCATGATTCGCATGTCCCC	0.393													T	63024812	C	T	63024812	3	4	104	1	0	0	0	0	1	0	0	0	4692	884	31	1	4170	1	DOCK7	1	63024812	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	45282	63024812	186225809	200	66814											
ATG4C	84938	broad.mit.edu	37	chr1	63269479	63269479	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggaggctacaggaacagatGaagttgacaagctaaaaacc	11	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:63269479G>T	uc001dat.2	+	2	184	c.22G>T	c.(22-24)GAA>TAA	p.E8*	ATG4C_uc001dau.2_Nonsense_Mutation_p.E8*	NM_178221	NP_835739	Q96DT6	ATG4C_HUMAN	APG4 autophagy 4 homolog C isoform 8	8					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity			ovary(1)	1						AGGAACAGATGAAGTTGACAA	0.279													T	63269479	G	T	63269479	4	4	104	1	0	0	0	0	0	1	0	0	1098	1291	45	5	24	5	ATG4C	1	63269479	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	244667	63269479	185981142	201	66815											
ATG4C	84938	broad.mit.edu	37	chr1	63282366	63282366	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggctgacctacagggaagAattccctcaaatagaaggct	10	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:63282366A>C	uc001dat.2	+	4	443	c.281A>C	c.(280-282)GAA>GCA	p.E94A	ATG4C_uc001dau.2_Missense_Mutation_p.E94A	NM_178221	NP_835739	Q96DT6	ATG4C_HUMAN	APG4 autophagy 4 homolog C isoform 8	94					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity			ovary(1)	1						TACAGGGAAGAATTCCCTCAA	0.448													C	63282366	A	C	63282366	3	2	104	1	0	0	0	0	1	0	0	0	1098	246	9	5	291	5	ATG4C	1	63282366	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	12887	63282366	185968255	202	66816											
ALG6	29929	broad.mit.edu	37	chr1	63872011	63872011	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taattgctgatctgctgattTacatacctgcagtggttttg	9	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:63872011T>C	uc010oow.1	+	6	675	c.370T>C	c.(370-372)TAC>CAC	p.Y124H	ALG6_uc001daz.2_RNA|ALG6_uc009waj.2_RNA	NM_013339	NP_037471	Q9Y672	ALG6_HUMAN	dolichyl pyrophosphate Man9GlcNAc2	124	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity				0						TCTGCTGATTTACATACCTGC	0.378													C	63872011	T	C	63872011	3	2	104	1	0	0	0	0	1	0	0	0	522	1754	61	3	388	3	ALG6	1	63872011	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	589645	63872011	185378610	203	66817											
CACHD1	57685	broad.mit.edu	37	chr1	65016280	65016280	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttttcattgcagcggAtattcaactcctttgtttac	5	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:65016280A>G	uc001dbo.1	+	2	154	c.49A>G	c.(49-51)ATA>GTA	p.I17V	CACHD1_uc001dbp.1_5'UTR	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	68	Extracellular (Potential).				calcium ion transport	integral to membrane				ovary(2)	2						ATTGCAGCGGATATTCAACTC	0.338													G	65016280	A	G	65016280	3	3	104	1	0	0	0	0	1	0	0	0	2537	333	12	3	55	3	CACHD1	1	65016280	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1144269	65016280	184234341	204	66818											
AK3L1	205	broad.mit.edu	37	chr1	65691785	65691785	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caattttccggaacggagacGaacaaaatctggccctacgt	9	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:65691785G>A	uc001dby.2	+	6	844	c.597G>A	c.(595-597)ACG>ACA	p.T199T	AK3L1_uc009wan.2_Silent_p.T147T|AK3L1_uc001dbz.2_Silent_p.T199T|AK3L1_uc001dca.2_Silent_p.T199T	NM_203464	NP_982289	P27144	KAD4_HUMAN	adenylate kinase 3-like 1 isoform 7	199						mitochondrial matrix	adenylate kinase activity|ATP binding|GTP binding				0						GAACGGAGACGAACAAAATCT	0.443													A	65691785	G	A	65691785	2	1	104	1	0	0	0	0	0	0	0	1	442	1045	37	1		1	AK3L1	1	65691785	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	675505	65691785	183558836	205	66819											
DNAJC6	9829	broad.mit.edu	37	chr1	65878696	65878696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgaaaaccaaggccaaaaGcccttatattaatttatgag	6	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:65878696G>A	uc001dcd.1	+	19	2894	c.2730G>A	c.(2728-2730)AAG>AAA	p.K910K	DNAJC6_uc010opc.1_Silent_p.K897K|DNAJC6_uc001dce.1_Silent_p.K967K	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	910	J.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						AAGGCCAAAAGCCCTTATATT	0.413													A	65878696	G	A	65878696	2	1	104	1	0	0	0	0	0	0	0	1	4653	962	34	2		2	DNAJC6	1	65878696	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	186911	65878696	183371925	206	66820											
LEPR	3953	broad.mit.edu	37	chr1	66081710	66081710	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcccctgatgaaaaatgactCattgtgcagtgttcagagat	10	8	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:66081710C>A	uc001dci.2	+	15	2217	c.2015C>A	c.(2014-2016)TCA>TAA	p.S672*	LEPR_uc001dcg.2_Nonsense_Mutation_p.S672*|LEPR_uc001dch.2_Nonsense_Mutation_p.S672*|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Nonsense_Mutation_p.S672*|LEPR_uc001dck.2_Nonsense_Mutation_p.S672*	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	672	Extracellular (Potential).|Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AAAAATGACTCATTGTGCAGT	0.383													A	66081710	C	A	66081710	4	1	104	1	0	0	0	0	0	1	0	0	8728	838	29	5	2065	5	LEPR	1	66081710	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	203014	66081710	183168911	207	66821											
LEPR	3953	broad.mit.edu	37	chr1	66081833	66081833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcaagcacatactgttaCggttctggccatcaattcaa	8	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:66081833C>T	uc001dci.2	+	15	2340	c.2138C>T	c.(2137-2139)ACG>ATG	p.T713M	LEPR_uc001dcg.2_Missense_Mutation_p.T713M|LEPR_uc001dch.2_Missense_Mutation_p.T713M|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.T713M|LEPR_uc001dck.2_Missense_Mutation_p.T713M	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	713	Extracellular (Potential).|Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CATACTGTTACGGTTCTGGCC	0.408													T	66081833	C	T	66081833	3	4	104	1	0	0	0	0	1	0	0	0	8728	536	19	1	2188	1	LEPR	1	66081833	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	123	66081833	183168788	208	66822											
LEPR	3953	broad.mit.edu	37	chr1	66101895	66101895	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaaacgtttgagcatcttTttatcaagcatacagcatca	6	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:66101895T>G	uc001dci.2	+	20	2897	c.2695T>G	c.(2695-2697)TTT>GTT	p.F899V	LEPR_uc009waq.2_Missense_Mutation_p.F172L	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	899	Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGAGCATCTTTTTATCAAGCA	0.338													G	66101895	T	G	66101895	3	3	104	1	0	0	0	0	1	0	0	0	8728	1841	64	5	2995	5	LEPR	1	66101895	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	20062	66101895	183148726	209	66823											
TCTEX1D1	200132	broad.mit.edu	37	chr1	67243091	67243091	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcttatgttttcagaaattCttctctcttcgctcttgcaa	4	10	6	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:67243091C>A	uc001dcv.2	+	5	625	c.494C>A	c.(493-495)TCT>TAT	p.S165Y	TCTEX1D1_uc009wau.2_RNA|TCTEX1D1_uc009wav.2_RNA	NM_152665	NP_689878	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	165											0						TTCAGAAATTCTTCTCTCTTC	0.383													A	67243091	C	A	67243091	3	1	104	1	0	0	0	0	1	0	0	0	15716	913	32	5	508	5	TCTEX1D1	1	67243091	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1141196	67243091	182007530	210	66824											
WDR78	79819	broad.mit.edu	37	chr1	67292585	67292585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattttggagaccaggcaaCgtcgtaaacaacagaagtag	11	7	0	3	rs139606017	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:67292585C>T	uc001dcx.2	-	15	2313	c.2257G>A	c.(2257-2259)GTT>ATT	p.V753I	WDR78_uc009waw.2_Missense_Mutation_p.V466I|WDR78_uc009wax.2_RNA	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	753	WD 5.									ovary(2)	2						GACCAGGCAACGTCGTAAACA	0.393													T	67292585	C	T	67292585	3	4	104	1	0	0	0	0	1	0	0	0	17325	536	19	1	301	1	WDR78	1	67292585	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	49494	67292585	181958036	211	66825											
WDR78	79819	broad.mit.edu	37	chr1	67358960	67358960	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttattgtattctgataaaggCtataggaagatataaattct	7	3	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:67358960C>G	uc001dcx.2	-	3	538	c.482G>C	c.(481-483)AGC>ACC	p.S161T	WDR78_uc001dcy.2_Missense_Mutation_p.S161T|WDR78_uc001dcz.2_Missense_Mutation_p.S161T|WDR78_uc009wax.2_5'Flank	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	161										ovary(2)	2						CTGATAAAGGCTATAGGAAGA	0.343													G	67358960	C	G	67358960	3	3	104	1	0	0	0	0	1	0	0	0	17325	797	28	5	2181	5	WDR78	1	67358960	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	66375	67358960	181891661	212	66826											
C1orf141	400757	broad.mit.edu	37	chr1	67558934	67558934	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgttaggctagaaaaattCtgtgagaaattatagagtgt	10	2	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:67558934C>A	uc001ddl.1	-	7	1068	c.957G>T	c.(955-957)CAG>CAT	p.Q319H	C1orf141_uc001ddm.1_Missense_Mutation_p.Q319H|C1orf141_uc001ddn.1_RNA	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	hypothetical protein LOC400757	319										ovary(1)	1						TAGAAAAATTCTGTGAGAAAT	0.333													A	67558934	C	A	67558934	3	1	104	1	0	0	0	0	1	0	0	0	2001	912	32	5	249	5	C1orf141	1	67558934	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	199974	67558934	181691687	213	66827											
C1orf141	400757	broad.mit.edu	37	chr1	67559156	67559156	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcacaatttctttctaaaatGaaatttgttcttttatgtgg	5	5	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:67559156G>A	uc001ddl.1	-	7	846	c.735C>T	c.(733-735)TTC>TTT	p.F245F	C1orf141_uc001ddm.1_Silent_p.F245F|C1orf141_uc001ddn.1_RNA	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	hypothetical protein LOC400757	245										ovary(1)	1						TTTCTAAAATGAAATTTGTTC	0.289													A	67559156	G	A	67559156	2	1	104	1	0	0	0	0	0	0	0	1	2001	1281	45	4		4	C1orf141	1	67559156	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	222	67559156	181691465	214	66828											
C1orf141	400757	broad.mit.edu	37	chr1	67561067	67561067	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atttctgaccgatttgttttCttttatattaaaatcgttca	4	6	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:67561067C>A	uc001ddl.1	-	6	565	c.454G>T	c.(454-456)GAA>TAA	p.E152*	C1orf141_uc001ddm.1_Nonsense_Mutation_p.E152*|C1orf141_uc001ddn.1_Intron	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	hypothetical protein LOC400757	152										ovary(1)	1						GATTTGTTTTCTTTTATATTA	0.348													A	67561067	C	A	67561067	4	1	104	1	0	0	0	0	0	1	0	0	2001	922	32	5	756	5	C1orf141	1	67561067	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1911	67561067	181689554	215	66829											
IL23R	149233	broad.mit.edu	37	chr1	67635287	67635287	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtcccaaacattttcaagaGacactgatatgtggaaaaga	8	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:67635287G>A	uc001ddo.2	+	3	418	c.333G>A	c.(331-333)GAG>GAA	p.E111E	IL23R_uc009waz.2_5'UTR|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_5'UTR|IL23R_uc010opk.1_Silent_p.E68E|IL23R_uc010opl.1_5'UTR|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_5'UTR|IL23R_uc010opn.1_5'UTR|IL23R_uc001ddr.2_RNA	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	111	Extracellular (Potential).				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity				0						ATTTTCAAGAGACACTGATAT	0.373													A	67635287	G	A	67635287	2	1	104	1	0	0	0	0	0	0	0	1	7676	933	33	4		4	IL23R	1	67635287	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	74220	67635287	181615334	216	66830											
IL12RB2	3595	broad.mit.edu	37	chr1	67786106	67786106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgtttataatcacgtggCtgttgattaaagcaaaaata	7	4	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:67786106C>T	uc001ddu.2	+	2	695	c.55C>T	c.(55-57)CTG>TTG	p.L19L	IL12RB2_uc010oqi.1_Silent_p.L19L|IL12RB2_uc010oqj.1_Silent_p.L19L|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Silent_p.L19L|IL12RB2_uc010oqm.1_Silent_p.L19L|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	19					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						AATCACGTGGCTGTTGATTAA	0.343													T	67786106	C	T	67786106	2	4	104	1	0	0	0	0	0	0	0	1	7627	796	28	2		2	IL12RB2	1	67786106	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	150819	67786106	181464515	217	66831											
IL12RB2	3595	broad.mit.edu	37	chr1	67804371	67804371	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gactacagtagacaacagatTtctcttttctggaaggtgag	10	7	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:67804371T>G	uc001ddu.2	+	8	1663	c.1023T>G	c.(1021-1023)ATT>ATG	p.I341M	IL12RB2_uc010oqi.1_Missense_Mutation_p.I341M|IL12RB2_uc010oqj.1_Missense_Mutation_p.I341M|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.I341M|IL12RB2_uc010oqm.1_Missense_Mutation_p.I341M|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	341	Fibronectin type-III 3.|Extracellular (Potential).				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						GACAACAGATTTCTCTTTTCT	0.358													G	67804371	T	G	67804371	3	3	104	1	0	0	0	0	1	0	0	0	7627	1829	64	5	1049	5	IL12RB2	1	67804371	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	18265	67804371	181446250	218	66832											
IL12RB2	3595	broad.mit.edu	37	chr1	67816583	67816583	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcagaggcaagaggaaaaAttctccactatcaggtgacc	9	10	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:67816583A>C	uc001ddu.2	+	9	1709	c.1069A>C	c.(1069-1071)ATT>CTT	p.I357L	IL12RB2_uc010oqi.1_Missense_Mutation_p.I357L|IL12RB2_uc010oqj.1_Missense_Mutation_p.I357L|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.I357L|IL12RB2_uc010oqm.1_Missense_Mutation_p.I357L|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	357	Fibronectin type-III 3.|Extracellular (Potential).				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						AAGAGGAAAAATTCTCCACTA	0.478													C	67816583	A	C	67816583	3	2	104	1	0	0	0	0	1	0	0	0	7627	101	4	5	1099	5	IL12RB2	1	67816583	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	12212	67816583	181434038	219	66833											
SERBP1	26135	broad.mit.edu	37	chr1	67880971	67880971	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctccagctgagacgttatatCatttgctggcttccggaaat	9	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:67880971C>A	uc001ddv.2	-	7	1188	c.1048G>T	c.(1048-1050)GAT>TAT	p.D350Y	SERBP1_uc001ddx.2_Missense_Mutation_p.D344Y|SERBP1_uc001ddy.2_Missense_Mutation_p.D329Y|SERBP1_uc001ddw.2_Missense_Mutation_p.D335Y	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1 isoform 1	350					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			skin(1)	1						GACGTTATATCATTTGCTGGC	0.488													A	67880971	C	A	67880971	3	1	104	1	0	0	0	0	1	0	0	0	14075	826	29	5	186	5	SERBP1	1	67880971	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	64388	67880971	181369650	220	66834											
WLS	79971	broad.mit.edu	37	chr1	68659690	68659690	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agctgcaggataaacagcatGaattggaaccaaggactcat	10	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:68659690G>A	uc001def.1	-	2	598	c.327C>T	c.(325-327)TTC>TTT	p.F109F	uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Silent_p.F107F|WLS_uc001deg.1_Intron|WLS_uc001deh.1_Silent_p.F109F|WLS_uc009wbf.1_Silent_p.F64F	NM_024911	NP_079187	Q5T9L3	WLS_HUMAN	G protein-coupled receptor 177 isoform 1	109	Lumenal (Potential).|Interacts with Wnt proteins (By similarity).				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity				0						TAAACAGCATGAATTGGAACC	0.453													A	68659690	G	A	68659690	2	1	104	1	0	0	0	0	0	0	0	1	17373	1281	45	4		4	WLS	1	68659690	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	778719	68659690	180590931	221	66835											
LRRC7	57554	broad.mit.edu	37	chr1	70502292	70502292	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taaagatgcagtacataattCtttgtggggtaacaggtgtg	12	4	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:70502292C>T	uc001dep.2	+	18	2189	c.2159C>T	c.(2158-2160)TCT>TTT	p.S720F	LRRC7_uc009wbg.2_Intron|LRRC7_uc001deq.2_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	720						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						GTACATAATTCTTTGTGGGGT	0.403													T	70502292	C	T	70502292	3	4	104	1	0	0	0	0	1	0	0	0	9020	913	32	4	2229	4	LRRC7	1	70502292	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1842602	70502292	178748329	222	66836											
LRRC7	57554	broad.mit.edu	37	chr1	70504011	70504011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtaatcctctcttaagttCgaaatctagaagcacatctt	5	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:70504011C>T	uc001dep.2	+	19	2420	c.2390C>T	c.(2389-2391)TCG>TTG	p.S797L	LRRC7_uc009wbg.2_Missense_Mutation_p.S81L|LRRC7_uc001deq.2_Missense_Mutation_p.S38L	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	797						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						CTCTTAAGTTCGAAATCTAGA	0.488													T	70504011	C	T	70504011	3	4	104	1	0	0	0	0	1	0	0	0	9020	893	31	1	2464	1	LRRC7	1	70504011	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1719	70504011	178746610	223	66837											
ANKRD13C	81573	broad.mit.edu	37	chr1	70742520	70742520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggtgtaagagactgtcttCgaatcggctgccaaaaaaaa	11	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:70742520C>T	uc001dex.3	-	10	1549	c.1223G>A	c.(1222-1224)CGA>CAA	p.R408Q	ANKRD13C_uc009wbk.2_Missense_Mutation_p.R373Q	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	408					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding				0						AGACTGTCTTCGAATCGGCTG	0.313													T	70742520	C	T	70742520	3	4	104	1	0	0	0	0	1	0	0	0	643	884	31	1	418	1	ANKRD13C	1	70742520	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	238509	70742520	178508101	224	66838											
PTGER3	5733	broad.mit.edu	37	chr1	71513120	71513120	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccacggacaccgatccGcaatcctcgccagaccctgg	10	17	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:71513120G>A	uc001dfg.1	-	1	372	c.141C>T	c.(139-141)TGC>TGT	p.C47C	PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Silent_p.C47C|PTGER3_uc001dfl.1_Silent_p.C47C|PTGER3_uc009wbm.1_Silent_p.C47C|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Silent_p.C47C|PTGER3_uc009wbn.1_Silent_p.C47C|PTGER3_uc009wbo.2_Silent_p.C47C|PTGER3_uc001dfo.2_Silent_p.C47C|PTGER3_uc001dfp.1_Silent_p.C47C|PTGER3_uc001dfq.2_Silent_p.C47C|uc001dfr.2_RNA	NM_198714	NP_942007	P43115	PE2R3_HUMAN	prostaglandin E receptor 3, subtype EP3 isoform	47	Extracellular (Potential).				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			pancreas(1)|lung(1)|skin(1)	3					Bimatoprost(DB00905)	ACACCGATCCGCAATCCTCGC	0.692													A	71513120	G	A	71513120	2	1	104	1	0	0	0	0	0	0	0	1	12744	1079	38	1		1	PTGER3	1	71513120	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	770600	71513120	177737501	225	66839											
TNNI3K	51086	broad.mit.edu	37	chr1	74901807	74901807	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgggcatgctgtggtggcaGattttggaggtgagataccc	16	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:74901807G>T	uc001dgf.1	+	18	1867	c.1816G>T	c.(1816-1818)GAT>TAT	p.D606Y	TNNI3K_uc001dgd.2_Missense_Mutation_p.D707Y|TNNI3K_uc001dge.1_Missense_Mutation_p.D707Y	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	606	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						TGTGGTGGCAGATTTTGGAGG	0.368													T	74901807	G	T	74901807	3	4	104	1	0	0	0	0	1	0	0	0	16326	942	33	5	2241	5	TNNI3K	1	74901807	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3388687	74901807	174348814	226	66840											
C1orf173	127254	broad.mit.edu	37	chr1	75038351	75038351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcctttgcaaggcttccttCctcagggctgccctccgaaa	8	15	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:75038351C>T	uc001dgg.2	-	14	3262	c.3043G>A	c.(3043-3045)GAA>AAA	p.E1015K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1015	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						AGGCTTCCTTCCTCAGGGCTG	0.512													T	75038351	C	T	75038351	3	4	104	1	0	0	0	0	1	0	0	0	2014	864	30	4	1553	4	C1orf173	1	75038351	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	136544	75038351	174212270	227	66841											
C1orf173	127254	broad.mit.edu	37	chr1	75039081	75039081	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcttcctccattgcttctttCttctccagtgtatacgtttt	4	12	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:75039081C>A	uc001dgg.2	-	14	2532	c.2313G>T	c.(2311-2313)AAG>AAT	p.K771N		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	771	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						TTGCTTCTTTCTTCTCCAGTG	0.468													A	75039081	C	A	75039081	3	1	104	1	0	0	0	0	1	0	0	0	2014	912	32	5	2283	5	C1orf173	1	75039081	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	730	75039081	174211540	228	66842											
C1orf173	127254	broad.mit.edu	37	chr1	75055504	75055504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaacattctcaaagctttCgtctattggcatcggcttgg	9	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:75055504C>T	uc001dgg.2	-	12	2206	c.1987G>A	c.(1987-1989)GAA>AAA	p.E663K	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.E457K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	663	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						TCAAAGCTTTCGTCTATTGGC	0.408													T	75055504	C	T	75055504	3	4	104	1	0	0	0	0	1	0	0	0	2014	893	31	1	2617	1	C1orf173	1	75055504	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	16423	75055504	174195117	229	66843											
C1orf173	127254	broad.mit.edu	37	chr1	75097446	75097446	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagcagtggttggacgaaatCttctccttctccatgtttca	9	10	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:75097446C>A	uc001dgg.2	-	7	989	c.770G>T	c.(769-771)AGA>ATA	p.R257I	C1orf173_uc001dgi.3_Missense_Mutation_p.R51I	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	257	Poly-Arg.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						TGGACGAAATCTTCTCCTTCT	0.373													A	75097446	C	A	75097446	3	1	104	1	0	0	0	0	1	0	0	0	2014	913	32	5	3854	5	C1orf173	1	75097446	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	41942	75097446	174153175	230	66844											
C1orf173	127254	broad.mit.edu	37	chr1	75097470	75097470	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccttctccatgtttcagatCtattttctcttgtgattttc	4	10	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:75097470C>A	uc001dgg.2	-	7	965	c.746G>T	c.(745-747)AGA>ATA	p.R249I	C1orf173_uc001dgi.3_Missense_Mutation_p.R43I	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	249										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						TGTTTCAGATCTATTTTCTCT	0.378													A	75097470	C	A	75097470	3	1	104	1	0	0	0	0	1	0	0	0	2014	913	32	5	3878	5	C1orf173	1	75097470	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	24	75097470	174153151	231	66845											
TYW3	127253	broad.mit.edu	37	chr1	75229792	75229792	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccatcttccctgaagatTactaagctttggttctgatg	7	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:75229792T>G	uc001dgn.2	+	6	864	c.775T>G	c.(775-777)TAC>GAC	p.Y259D	TYW3_uc010oqw.1_Missense_Mutation_p.Y226D|TYW3_uc010oqx.1_Missense_Mutation_p.Y175D|TYW3_uc010oqy.1_RNA	NM_138467	NP_612476	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog isoform	259					tRNA processing		methyltransferase activity			ovary(2)	2						CCCTGAAGATTACTAAGCTTT	0.358													G	75229792	T	G	75229792	3	3	104	1	0	0	0	0	1	0	0	0	16817	1754	61	5	797	5	TYW3	1	75229792	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	132322	75229792	174020829	232	66846											
ACADM	34	broad.mit.edu	37	chr1	76199306	76199306	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gactgctattgaaggaaattCtttgggggtaagtgacttag	13	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:76199306C>A	uc001dgw.3	+	5	810	c.380C>A	c.(379-381)TCT>TAT	p.S127Y	ACADM_uc010orc.1_Intron|ACADM_uc010ord.1_Missense_Mutation_p.S41Y|ACADM_uc009wbp.2_Missense_Mutation_p.S131Y|ACADM_uc009wbr.2_Missense_Mutation_p.S160Y|ACADM_uc010ore.1_Missense_Mutation_p.S91Y|ACADM_uc010orf.1_Intron|ACADM_uc001dgx.3_Missense_Mutation_p.S41Y|ACADM_uc010org.1_Intron	NM_000016	NP_000007	P11310	ACADM_HUMAN	medium-chain acyl-CoA dehydrogenase isoform a	127					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(2)|ovary(1)|skin(1)	4						GAAGGAAATTCTTTGGGGGTA	0.363													A	76199306	C	A	76199306	3	1	104	1	0	0	0	0	1	0	0	0	113	913	32	5	410	5	ACADM	1	76199306	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	969514	76199306	173051315	233	66847											
MSH4	4438	broad.mit.edu	37	chr1	76276403	76276403	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatcactaaacttaaaattTtatcacctttggaaataata	3	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:76276403T>G	uc001dhd.1	+	4	651	c.610T>G	c.(610-612)TTA>GTA	p.L204V		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	204					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			lung(3)|ovary(2)	5						ACTTAAAATTTTATCACCTTT	0.289								MMR					G	76276403	T	G	76276403	3	3	104	1	0	0	0	0	1	0	0	0	9872	1838	64	5	624	5	MSH4	1	76276403	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	77097	76276403	172974218	234	66848											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	76878054	76878054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacgtgaccacagagaagcGcatgagttactgtgatggag	13	7	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:76878054G>A	uc001dhh.2	+	3	738	c.575G>A	c.(574-576)CGC>CAC	p.R192H	ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.R192H|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.R127H	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	sialyltransferase 7C isoform 1	192	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			ovary(3)|skin(2)	5						ACAGAGAAGCGCATGAGTTAC	0.403													A	76878054	G	A	76878054	3	1	104	1	0	0	0	0	1	0	0	0	15224	1087	38	1	585	1	ST6GALNAC3	1	76878054	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	601651	76878054	172372567	235	66849											
ZZZ3	26009	broad.mit.edu	37	chr1	78041751	78041751	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacttgatgtgtataacttActgatgcatcttcaacagca	6	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:78041751A>G	uc001dhq.2	-	12	2807	c.2331_splice	c.e12+1	p.S777_splice	ZZZ3_uc001dhr.2_Splice_Site_p.S283_splice|ZZZ3_uc001dhp.2_Splice_Site_p.S776_splice	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5						TGTATAACTTACTGATGCATC	0.353													G	78041751	A	G	78041751	5	3	104	1	0	0	0	0	0	0	1	0	18253	405	14	3	394	3	ZZZ3	1	78041751	Splice_Site	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1163697	78041751	171208870	236	66850											
ZZZ3	26009	broad.mit.edu	37	chr1	78098028	78098028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaagacttgtgtccagttCgttattggtgttttctttac	8	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:78098028C>T	uc001dhq.2	-	5	1488	c.1012G>A	c.(1012-1014)GAA>AAA	p.E338K	ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.E338K|ZZZ3_uc001dhp.2_Missense_Mutation_p.E338K	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5						GTGTCCAGTTCGTTATTGGTG	0.443													T	78098028	C	T	78098028	3	4	104	1	0	0	0	0	1	0	0	0	18253	893	31	1	1743	1	ZZZ3	1	78098028	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	56277	78098028	171152593	237	66851											
USP33	23032	broad.mit.edu	37	chr1	78180466	78180466	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgcctcttcgctgctcTtcctattaaggacaatgatt	7	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:78180466T>G	uc001dht.2	-	20	2488	c.2141A>C	c.(2140-2142)AAG>ACG	p.K714T	USP33_uc001dhs.2_Missense_Mutation_p.K435T|USP33_uc001dhu.2_Missense_Mutation_p.K683T|USP33_uc001dhv.2_Missense_Mutation_p.K519T|USP33_uc001dhw.2_Missense_Mutation_p.K706T	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	714					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3						TTCGCTGCTCTTCCTATTAAG	0.328													G	78180466	T	G	78180466	3	3	104	1	0	0	0	0	1	0	0	0	17061	1609	56	5	723	5	USP33	1	78180466	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	82438	78180466	171070155	238	66852											
USP33	23032	broad.mit.edu	37	chr1	78195593	78195593	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttacagttttaattccttgAaacagagtagtaggcacaac	7	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:78195593A>G	uc001dht.2	-	10	1109	c.762T>C	c.(760-762)TTT>TTC	p.F254F	USP33_uc001dhs.2_5'Flank|USP33_uc001dhu.2_Silent_p.F223F|USP33_uc001dhv.2_Silent_p.F59F|USP33_uc001dhw.2_Silent_p.F254F	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	254					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3						TAATTCCTTGAAACAGAGTAG	0.274													G	78195593	A	G	78195593	2	3	104	1	0	0	0	0	0	0	0	1	17061	243	9	3		3	USP33	1	78195593	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	15127	78195593	171055028	239	66853											
FAM73A	374986	broad.mit.edu	37	chr1	78325057	78325057	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgccaaacttcactgtattCgacaggcttttcaggtattt	7	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:78325057C>T	uc001dhx.2	+	10	1206	c.1174C>T	c.(1174-1176)CGA>TGA	p.R392*	FAM73A_uc010ork.1_Nonsense_Mutation_p.R392*|FAM73A_uc010orl.1_Nonsense_Mutation_p.R354*|FAM73A_uc001dhy.1_3'UTR	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	hypothetical protein LOC374986	392						integral to membrane				ovary(1)	1				Colorectal(170;0.226)		TCACTGTATTCGACAGGCTTT	0.408													T	78325057	C	T	78325057	4	4	104	1	0	0	0	0	0	1	0	0	5617	876	31	1	1212	1	FAM73A	1	78325057	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	129464	78325057	170925564	240	66854											
NEXN	91624	broad.mit.edu	37	chr1	78408391	78408391	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatatattgaaaggggagaAacttactgcctttacttacc	7	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:78408391A>C	uc001dic.3	+	13	2202	c.1905A>C	c.(1903-1905)GAA>GAC	p.E635D	NEXN_uc001dib.3_Missense_Mutation_p.E571D|NEXN_uc001did.1_Missense_Mutation_p.E545D|NEXN_uc001dif.1_Missense_Mutation_p.E527D|NEXN_uc001dig.3_Missense_Mutation_p.E276D	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	635	Ig-like.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			ovary(2)	2				Colorectal(170;0.114)		AAAGGGGAGAAACTTACTGCC	0.398													C	78408391	A	C	78408391	3	2	104	1	0	0	0	0	1	0	0	0	10355	11	1	5	1951	5	NEXN	1	78408391	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	83334	78408391	170842230	241	66855											
IFI44	10561	broad.mit.edu	37	chr1	79125147	79125147	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagtaaagatcaaaagaattCgaagggagttggtaaacgct	11	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:79125147C>T	uc001dip.3	+	6	1115	c.991C>T	c.(991-993)CGA>TGA	p.R331*	IFI44_uc010orr.1_Nonsense_Mutation_p.R331*|IFI44_uc010ors.1_Nonsense_Mutation_p.R48*	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN	interferon-induced, hepatitis C-associated	331				R -> Q (in Ref. 1; BAA06043).	response to virus	cytoplasm				ovary(1)|central_nervous_system(1)	2						CAAAAGAATTCGAAGGGAGTT	0.398													T	79125147	C	T	79125147	4	4	104	1	0	0	0	0	0	1	0	0	7517	876	31	1	1009	1	IFI44	1	79125147	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	716756	79125147	170125474	242	66856											
ELTD1	64123	broad.mit.edu	37	chr1	79383340	79383340	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatgattaggcatgctggTcctataaaactccaaataaa	7	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:79383340T>C	uc001diq.3	-	12	1884	c.1728A>G	c.(1726-1728)GGA>GGG	p.G576G		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	576	Helical; Name=5; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GGCATGCTGGTCCTATAAAAC	0.289													C	79383340	T	C	79383340	2	2	104	1	0	0	0	0	0	0	0	1	5084	1654	58	3		3	ELTD1	1	79383340	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	258193	79383340	169867281	243	66857											
ELTD1	64123	broad.mit.edu	37	chr1	79392576	79392576	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaaaacagcttacctttcGatgacttaatgtaaatgtta	6	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:79392576G>A	uc001diq.3	-	8	1234	c.1078C>T	c.(1078-1080)CGA>TGA	p.R360*		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	360	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CTTACCTTTCGATGACTTAAT	0.353													A	79392576	G	A	79392576	4	1	104	1	0	0	0	0	0	1	0	0	5084	1066	37	1	1026	1	ELTD1	1	79392576	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	9236	79392576	169858045	244	66858											
ELTD1	64123	broad.mit.edu	37	chr1	79392761	79392761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcttataatatacaaatGcaactgcaacattgcctatc	3	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:79392761G>A	uc001diq.3	-	8	1049	c.893C>T	c.(892-894)GCA>GTA	p.A298V		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	298	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ATATACAAATGCAACTGCAAC	0.279													A	79392761	G	A	79392761	3	1	104	1	0	0	0	0	1	0	0	0	5084	1319	46	2	1211	2	ELTD1	1	79392761	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	185	79392761	169857860	245	66859											
LPHN2	23266	broad.mit.edu	37	chr1	82302724	82302724	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttatcattgtaatcagcTtcttaccaaatacagaaggt	7	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:82302724T>G	uc001dit.3	+	3	236	c.55T>G	c.(55-57)TTC>GTC	p.F19V	LPHN2_uc001dis.2_Missense_Mutation_p.F19V|LPHN2_uc001diu.2_Missense_Mutation_p.F19V|LPHN2_uc001div.2_Missense_Mutation_p.F19V|LPHN2_uc009wcd.2_Missense_Mutation_p.F19V	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	19					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGTAATCAGCTTCTTACCAAA	0.328													G	82302724	T	G	82302724	3	3	104	1	0	0	0	0	1	0	0	0	8916	1609	56	5	57	5	LPHN2	1	82302724	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2909963	82302724	166947897	246	66860											
LPHN2	23266	broad.mit.edu	37	chr1	82409063	82409063	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atatcgacctagcagttgatGaaaatggtttatgggtcatt	10	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:82409063G>T	uc001dit.3	+	6	989	c.808G>T	c.(808-810)GAA>TAA	p.E270*	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Nonsense_Mutation_p.E270*|LPHN2_uc001div.2_Nonsense_Mutation_p.E270*|LPHN2_uc009wcd.2_Nonsense_Mutation_p.E270*	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	270	Extracellular (Potential).|Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGCAGTTGATGAAAATGGTTT	0.418													T	82409063	G	T	82409063	4	4	104	1	0	0	0	0	0	1	0	0	8916	1291	45	5	822	5	LPHN2	1	82409063	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	106339	82409063	166841558	247	66861											
TTLL7	79739	broad.mit.edu	37	chr1	84386821	84386821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttctcgtgagatctgctttCgtacttgagcgagtctctct	9	11	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:84386821C>T	uc001djc.2	-	12	1709	c.1313G>A	c.(1312-1314)CGA>CAA	p.R438Q	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	438					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GATCTGCTTTCGTACTTGAGC	0.318													T	84386821	C	T	84386821	3	4	104	1	0	0	0	0	1	0	0	0	16729	884	31	1	1390	1	TTLL7	1	84386821	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1977758	84386821	164863800	248	66862											
TTLL7	79739	broad.mit.edu	37	chr1	84399362	84399362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacttcaaagcagacactttCgcttcctggaggttgaccag	10	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:84399362C>T	uc001djc.2	-	9	1372	c.976G>A	c.(976-978)GAA>AAA	p.E326K	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	326	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CAGACACTTTCGCTTCCTGGA	0.423													T	84399362	C	T	84399362	3	4	104	1	0	0	0	0	1	0	0	0	16729	893	31	1	1739	1	TTLL7	1	84399362	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	12541	84399362	164851259	249	66863											
SSX2IP	117178	broad.mit.edu	37	chr1	85124050	85124050	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaattctccactgtttTctgatgctgtttgtaagctg	7	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:85124050T>G	uc001dkh.2	-	10	1304	c.1029A>C	c.(1027-1029)AGA>AGC	p.R343S	SSX2IP_uc001dkf.2_Missense_Mutation_p.R316S|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Missense_Mutation_p.R316S|SSX2IP_uc001dki.2_Missense_Mutation_p.R343S|SSX2IP_uc010osa.1_Missense_Mutation_p.R316S|SSX2IP_uc001dkj.2_Missense_Mutation_p.R343S|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.R339S	NM_014021	NP_054740	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting	343					cell adhesion	nucleus|protein complex				ovary(2)	2				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCCACTGTTTTCTGATGCTGT	0.413													G	85124050	T	G	85124050	3	3	104	1	0	0	0	0	1	0	0	0	15203	1780	62	5	839	5	SSX2IP	1	85124050	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	724688	85124050	164126571	250	66864											
LPAR3	23566	broad.mit.edu	37	chr1	85279676	85279676	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagaagcagcagatcatcttCttcatggtgccatacatgtc	9	10	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:85279676C>A	uc001dkl.2	-	2	954	c.915G>T	c.(913-915)AAG>AAT	p.K305N	LPAR3_uc009wcj.1_Missense_Mutation_p.K305N	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	305	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				lung(3)|ovary(2)	5						AGATCATCTTCTTCATGGTGC	0.552													A	85279676	C	A	85279676	3	1	104	1	0	0	0	0	1	0	0	0	8906	912	32	5	150	5	LPAR3	1	85279676	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	155626	85279676	163970945	251	66865											
MCOLN2	255231	broad.mit.edu	37	chr1	85403733	85403733	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagcgtagaggttccaagAaaaatgctgcagagatcata	11	6	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:85403733A>C	uc001dkm.2	-	10	1384	c.1143T>G	c.(1141-1143)TTT>TTG	p.F381L	MCOLN2_uc001dkn.2_RNA	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	mucolipin 2	381	Helical; (Potential).					integral to membrane	ion channel activity			ovary(3)|upper_aerodigestive_tract(1)	4				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		AGGTTCCAAGAAAAATGCTGC	0.408													C	85403733	A	C	85403733	3	2	104	1	0	0	0	0	1	0	0	0	9396	243	9	5	577	5	MCOLN2	1	85403733	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	124057	85403733	163846888	252	66866											
MCOLN2	255231	broad.mit.edu	37	chr1	85424296	85424296	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttcatctgtaccagaAtatcctttcaaaaacaagtg	4	10	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:85424296A>C	uc001dkm.2	-	3	568	c.327T>G	c.(325-327)TAT>TAG	p.Y109*	MCOLN2_uc001dkn.2_RNA	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	mucolipin 2	109						integral to membrane	ion channel activity			ovary(3)|upper_aerodigestive_tract(1)	4				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CTGTACCAGAATATCCTTTCA	0.358													C	85424296	A	C	85424296	4	2	104	1	0	0	0	0	0	1	0	0	9396	108	4	5	1421	5	MCOLN2	1	85424296	Nonsense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	20563	85424296	163826325	253	66867											
MCOLN3	55283	broad.mit.edu	37	chr1	85499799	85499799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accagtttcaatttctggatCgatgtcaaaggtatcatttc	7	8	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:85499799C>T	uc001dkp.2	-	4	625	c.532G>A	c.(532-534)GAT>AAT	p.D178N	MCOLN3_uc001dkq.2_Missense_Mutation_p.D122N|MCOLN3_uc001dkr.2_Missense_Mutation_p.D178N|MCOLN3_uc001dks.3_Missense_Mutation_p.D23N	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	mucolipin 3	178						integral to membrane	ion channel activity			skin(1)	1				all cancers(265;0.00957)|Epithelial(280;0.0254)		ATTTCTGGATCGATGTCAAAG	0.348													T	85499799	C	T	85499799	3	4	104	1	0	0	0	0	1	0	0	0	9397	884	31	1	1169	1	MCOLN3	1	85499799	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	75503	85499799	163750822	254	66868											
MCOLN3	55283	broad.mit.edu	37	chr1	85511015	85511015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcttcatgagagctgcagCtactcacaactacctcagga	7	14	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:85511015C>T	uc001dkp.2	-	2	122	c.29G>A	c.(28-30)AGC>AAC	p.S10N	MCOLN3_uc001dkq.2_Missense_Mutation_p.S10N|MCOLN3_uc001dkr.2_Missense_Mutation_p.S10N|MCOLN3_uc001dks.3_5'UTR	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	mucolipin 3	10						integral to membrane	ion channel activity			skin(1)	1				all cancers(265;0.00957)|Epithelial(280;0.0254)		AGAGCTGCAGCTACTCACAAC	0.403													T	85511015	C	T	85511015	3	4	104	1	0	0	0	0	1	0	0	0	9397	797	28	2	1680	2	MCOLN3	1	85511015	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	11216	85511015	163739606	255	66869											
WDR63	126820	broad.mit.edu	37	chr1	85583527	85583527	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatgacttctgcacaaagttCtttgtgggaacagaggtaaa	11	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:85583527C>A	uc001dkt.2	+	17	2093	c.1902C>A	c.(1900-1902)TTC>TTA	p.F634L	WDR63_uc009wcl.2_Missense_Mutation_p.F595L	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	634										upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GCACAAAGTTCTTTGTGGGAA	0.338													A	85583527	C	A	85583527	3	1	104	1	0	0	0	0	1	0	0	0	17311	912	32	5	1964	5	WDR63	1	85583527	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	72512	85583527	163667094	256	66870											
BCL10	8915	broad.mit.edu	37	chr1	85736475	85736475	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctttttctacttgatgttcGacaagaaatttcttcagtgt	6	8	3	2	rs121918314		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:85736475G>A	uc001dkz.2	-	3	877	c.172C>T	c.(172-174)CGA>TGA	p.R58*		NM_003921	NP_003912	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	58	CARD.		R -> G (in germ cell tumor).|R -> Q (in mesothelioma).		apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding			lung(2)	2				all cancers(265;0.0114)|Epithelial(280;0.0311)		CTTGATGTTCGACAAGAAATT	0.378			T	IGH@	MALT 								A	85736475	G	A	85736475	4	1	104	1	0	0	0	0	0	1	0	0	1362	1066	37	1	537	1	BCL10	1	85736475	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	152948	85736475	163514146	257	66871											
DDAH1	23576	broad.mit.edu	37	chr1	85817243	85817243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatttgtccttttggaaagGcccacaaaaaattctctgcc	7	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:85817243G>A	uc001dlb.2	-	3	584	c.423C>T	c.(421-423)GGC>GGT	p.G141G	DDAH1_uc001dlc.2_Silent_p.G38G|uc001dla.1_Intron|DDAH1_uc010osb.1_Silent_p.G41G|DDAH1_uc009wco.2_Silent_p.G38G	NM_012137	NP_036269	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	141					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding				0				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	TTTTGGAAAGGCCCACAAAAA	0.378													A	85817243	G	A	85817243	2	1	104	1	0	0	0	0	0	0	0	1	4321	1190	42	2		2	DDAH1	1	85817243	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	80768	85817243	163433378	258	66872											
CYR61	3491	broad.mit.edu	37	chr1	86047711	86047711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcacatgtattgatggCgccgtgggctgcattcctct	12	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:86047711C>T	uc001dle.2	+	3	602	c.378C>T	c.(376-378)GGC>GGT	p.G126G	CYR61_uc001dlg.2_5'UTR|CYR61_uc009wcp.1_5'Flank	NM_001554	NP_001545	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61 precursor	126	VWFC.				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)	1				all cancers(265;0.0216)|Epithelial(280;0.0441)		GTATTGATGGCGCCGTGGGCT	0.537											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	86047711	C	T	86047711	2	4	104	1	0	0	0	0	0	0	0	1	4199	755	27	1		1	CYR61	1	86047711	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	230468	86047711	163202910	259	66873											
CLCA1	1179	broad.mit.edu	37	chr1	86947924	86947924	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actggtacaaatgtagtaaaGaagtgtcagggaggcagctg	14	5	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:86947924G>T	uc001dlt.2	+	5	723	c.594G>T	c.(592-594)AAG>AAT	p.K198N	CLCA1_uc001dls.1_Missense_Mutation_p.K137N	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	198					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		ATGTAGTAAAGAAGTGTCAGG	0.403													T	86947924	G	T	86947924	3	4	104	1	0	0	0	0	1	0	0	0	3457	933	33	5	612	5	CLCA1	1	86947924	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	900213	86947924	162302697	260	66874											
CLCA1	1179	broad.mit.edu	37	chr1	86952219	86952219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccatttagactggtaaccGcctcaatcgactgaatcaag	7	12	2	2	rs146483639		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:86952219G>A	uc001dlt.2	+	7	1094	c.965G>A	c.(964-966)CGC>CAC	p.R322H	CLCA1_uc001dls.1_Missense_Mutation_p.R261H	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	322	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		ACTGGTAACCGCCTCAATCGA	0.473													A	86952219	G	A	86952219	3	1	104	1	0	0	0	0	1	0	0	0	3457	1087	38	1	991	1	CLCA1	1	86952219	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4295	86952219	162298402	261	66875											
CLCA1	1179	broad.mit.edu	37	chr1	86952423	86952423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtccatctgcagcgggcttcGatcggcatttactgtgagat	12	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:86952423G>A	uc001dlt.2	+	7	1298	c.1169G>A	c.(1168-1170)CGA>CAA	p.R390Q	CLCA1_uc001dls.1_Missense_Mutation_p.R329Q	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	390	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AGCGGGCTTCGATCGGCATTT	0.438													A	86952423	G	A	86952423	3	1	104	1	0	0	0	0	1	0	0	0	3457	1058	37	1	1195	1	CLCA1	1	86952423	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	204	86952423	162298198	262	66876											
CLCA1	1179	broad.mit.edu	37	chr1	86956953	86956953	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaattgcattttaggaggtTtacagacatatgcttcagat	9	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:86956953T>G	uc001dlt.2	+	9	1492	c.1363T>G	c.(1363-1365)TTA>GTA	p.L455V	CLCA1_uc001dls.1_Missense_Mutation_p.L394V	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	455	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TTTAGGAGGTTTACAGACATA	0.378													G	86956953	T	G	86956953	3	3	104	1	0	0	0	0	1	0	0	0	3457	1838	64	5	1397	5	CLCA1	1	86956953	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	4530	86956953	162293668	263	66877											
CLCA1	1179	broad.mit.edu	37	chr1	86965337	86965337	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcttttttctttttagCtcacaagtatatcattcgaa	3	8	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:86965337C>A	uc001dlt.2	+	14	2483	c.2354C>A	c.(2353-2355)GCT>GAT	p.A785D		NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	785					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TTCTTTTTAGCTCACAAGTAT	0.289													A	86965337	C	A	86965337	3	1	104	1	0	0	0	0	1	0	0	0	3457	811	28	5	2408	5	CLCA1	1	86965337	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	8384	86965337	162285284	264	66878											
HS2ST1	9653	broad.mit.edu	37	chr1	87563550	87563550	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgtgtagcagaaggtggCtcagactgtgctccagagaa	14	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:87563550C>T	uc010osk.1	+	5	1003	c.618C>T	c.(616-618)GGC>GGT	p.G206G	HS2ST1_uc001dmc.3_Silent_p.G206G|LOC339524_uc001dme.1_Silent_p.G167G	NM_012262	NP_036394	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1 isoform	206	Lumenal (Potential).					Golgi membrane|integral to membrane				central_nervous_system(1)	1		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		CAGAAGGTGGCTCAGACTGTG	0.453													T	87563550	C	T	87563550	2	4	104	1	0	0	0	0	0	0	0	1	7362	784	28	2		2	HS2ST1	1	87563550	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	598213	87563550	161687071	265	66879											
PKN2	5586	broad.mit.edu	37	chr1	89236102	89236102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacaaaaatagaagtcatacGaatgcagattcttcaggcag	9	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:89236102G>A	uc001dmn.2	+	4	914	c.572G>A	c.(571-573)CGA>CAA	p.R191Q	PKN2_uc001dmm.1_Missense_Mutation_p.R191Q|PKN2_uc010osp.1_Missense_Mutation_p.R191Q|PKN2_uc010osq.1_Missense_Mutation_p.R34Q|PKN2_uc009wcv.2_Missense_Mutation_p.R191Q	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	191	REM 2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GAAGTCATACGAATGCAGATT	0.363													A	89236102	G	A	89236102	3	1	104	1	0	0	0	0	1	0	0	0	11980	1058	37	1	586	1	PKN2	1	89236102	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1672552	89236102	160014519	266	66880											
PKN2	5586	broad.mit.edu	37	chr1	89250336	89250336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caacaggtactttggaagttCgtcttatgggctgccaagat	11	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:89250336C>T	uc001dmn.2	+	7	1342	c.1000C>T	c.(1000-1002)CGT>TGT	p.R334C	PKN2_uc001dmm.1_Missense_Mutation_p.R334C|PKN2_uc010osp.1_Missense_Mutation_p.R334C|PKN2_uc010osq.1_Missense_Mutation_p.R177C|PKN2_uc009wcv.2_Missense_Mutation_p.R334C|PKN2_uc010osr.1_5'UTR	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	334	C2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TTTGGAAGTTCGTCTTATGGG	0.398													T	89250336	C	T	89250336	3	4	104	1	0	0	0	0	1	0	0	0	11980	884	31	1	1026	1	PKN2	1	89250336	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	14234	89250336	160000285	267	66881											
PKN2	5586	broad.mit.edu	37	chr1	89294214	89294214	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgtggcactcctgaatttCttgccccagaagtattaaca	7	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:89294214C>A	uc001dmn.2	+	19	2812	c.2470C>A	c.(2470-2472)CTT>ATT	p.L824I	PKN2_uc010osp.1_Missense_Mutation_p.L808I|PKN2_uc010osq.1_Missense_Mutation_p.L667I|PKN2_uc009wcv.2_Missense_Mutation_p.L776I|PKN2_uc010osr.1_Missense_Mutation_p.L489I	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	824	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TCCTGAATTTCTTGCCCCAGA	0.393													A	89294214	C	A	89294214	3	1	104	1	0	0	0	0	1	0	0	0	11980	913	32	5	2544	5	PKN2	1	89294214	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	43878	89294214	159956407	268	66882											
GBP5	115362	broad.mit.edu	37	chr1	89733110	89733110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaaggatactgcagtaggtCgatagcaccctgatcaattt	9	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:89733110C>T	uc001dnc.2	-	5	955	c.418G>A	c.(418-420)GAC>AAC	p.D140N	GBP5_uc001dnd.2_Missense_Mutation_p.D140N|GBP5_uc001dne.1_Missense_Mutation_p.D140N	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	140						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)		TGCAGTAGGTCGATAGCACCC	0.448													T	89733110	C	T	89733110	3	4	104	1	0	0	0	0	1	0	0	0	6277	884	31	1	1374	1	GBP5	1	89733110	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	438896	89733110	159517511	269	66883											
LRRC8C	84230	broad.mit.edu	37	chr1	90179562	90179562	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctctctctgcaccagtgttCtgtcaaaatccacagtgcgg	9	13	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:90179562C>A	uc001dnl.3	+	3	1675	c.1433C>A	c.(1432-1434)TCT>TAT	p.S478Y		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member	478	LRR 4.					endoplasmic reticulum membrane|integral to membrane				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CACCAGTGTTCTGTCAAAATC	0.458													A	90179562	C	A	90179562	3	1	104	1	0	0	0	0	1	0	0	0	9023	913	32	5	1439	5	LRRC8C	1	90179562	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	446452	90179562	159071059	270	66884											
ZNF326	284695	broad.mit.edu	37	chr1	90478702	90478702	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcaaaaactgatcctaaaAatgaagaggaagaaaagcgg	10	5	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:90478702A>C	uc001dnq.2	+	7	971	c.832A>C	c.(832-834)AAT>CAT	p.N278H	ZNF326_uc009wda.1_Missense_Mutation_p.N189H|ZNF326_uc001dnr.2_Missense_Mutation_p.N72H	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326 isoform 1	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			ovary(1)	1		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TGATCCTAAAAATGAAGAGGA	0.368													C	90478702	A	C	90478702	3	2	104	1	0	0	0	0	1	0	0	0	17843	14	1	5	862	5	ZNF326	1	90478702	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	299140	90478702	158771919	271	66885											
BARHL2	343472	broad.mit.edu	37	chr1	91178030	91178030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgctgctgtacatggcagCggcagccgccgccgccgtag	14	15	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:91178030C>T	uc001dns.2	-	3	1045	c.1003G>A	c.(1003-1005)GCT>ACT	p.A335T		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	335						nucleus	sequence-specific DNA binding			ovary(1)	1		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		TACATGGCAGCGGCAGCCGCC	0.647													T	91178030	C	T	91178030	3	4	104	1	0	0	0	0	1	0	0	0	1314	768	27	1	164	1	BARHL2	1	91178030	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	699328	91178030	158072591	272	66886											
ZNF644	84146	broad.mit.edu	37	chr1	91404174	91404174	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaataaaagccatcgtTttggtcataactaagagtag	7	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:91404174T>G	uc001dnw.2	-	3	2879	c.2737A>C	c.(2737-2739)AAC>CAC	p.N913H	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.N913H	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	913					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AAGCCATCGTTTTGGTCATAA	0.343													G	91404174	T	G	91404174	3	3	104	1	0	0	0	0	1	0	0	0	18057	1841	64	5	1262	5	ZNF644	1	91404174	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	226144	91404174	157846447	273	66887											
ZNF644	84146	broad.mit.edu	37	chr1	91404625	91404625	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgaactagcttcttctttTttgaaatgcacaggatatga	7	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:91404625T>G	uc001dnw.2	-	3	2428	c.2286A>C	c.(2284-2286)AAA>AAC	p.K762N	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.K762N	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	762					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTTCTTCTTTTTTGAAATGCA	0.328													G	91404625	T	G	91404625	3	3	104	1	0	0	0	0	1	0	0	0	18057	1838	64	5	1713	5	ZNF644	1	91404625	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	451	91404625	157845996	274	66888											
ZNF644	84146	broad.mit.edu	37	chr1	91405928	91405928	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttgtagctcttcatttTgttctagaaagtctacttct	6	9	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:91405928T>A	uc001dnw.2	-	3	1125	c.983A>T	c.(982-984)CAA>CTA	p.Q328L	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.Q328L	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTCTTCATTTTGTTCTAGAAA	0.358													A	91405928	T	A	91405928	3	1	104	1	0	0	0	0	1	0	0	0	18057	1812	63	5	3016	5	ZNF644	1	91405928	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1303	91405928	157844693	275	66889											
CDC7	8317	broad.mit.edu	37	chr1	91985809	91985809	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgacaattaggggatccagaGaaactatccaagctgctaaa	9	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:91985809G>T	uc001doe.2	+	11	1468	c.1303G>T	c.(1303-1305)GAA>TAA	p.E435*	CDC7_uc001dof.2_Nonsense_Mutation_p.E435*|CDC7_uc010osw.1_Nonsense_Mutation_p.E407*|CDC7_uc009wdc.2_Nonsense_Mutation_p.E435*|CDC7_uc009wdd.2_Intron	NM_003503	NP_003494	O00311	CDC7_HUMAN	cell division cycle 7	435	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	5		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GGGATCCAGAGAAACTATCCA	0.318													T	91985809	G	T	91985809	4	4	104	1	0	0	0	0	0	1	0	0	3084	943	33	5	1341	5	CDC7	1	91985809	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	579881	91985809	157264812	276	66890											
BRDT	676	broad.mit.edu	37	chr1	92442839	92442839	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttaaagaaatgcttgcaaaGaaacatttttcatatgcatg	6	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:92442839G>T	uc001dok.3	+	6	1207	c.858G>T	c.(856-858)AAG>AAT	p.K286N	BRDT_uc001dol.3_Missense_Mutation_p.K286N|BRDT_uc010osz.1_Missense_Mutation_p.K290N|BRDT_uc009wdf.2_Missense_Mutation_p.K213N|BRDT_uc010ota.1_Missense_Mutation_p.K240N|BRDT_uc010otb.1_Missense_Mutation_p.K240N|BRDT_uc001dom.3_Missense_Mutation_p.K286N	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TGCTTGCAAAGAAACATTTTT	0.353													T	92442839	G	T	92442839	3	4	104	1	0	0	0	0	1	0	0	0	1508	933	33	5	876	5	BRDT	1	92442839	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	457030	92442839	156807782	277	66891											
BRDT	676	broad.mit.edu	37	chr1	92469985	92469985	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttaggatataaagattaaGaatgcagattcatggaaaag	9	2	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:92469985G>A	uc001dok.3	+	17	2752	c.2403G>A	c.(2401-2403)AAG>AAA	p.K801K	BRDT_uc001dol.3_Silent_p.K801K|BRDT_uc010osz.1_Silent_p.K805K|BRDT_uc009wdf.2_Silent_p.K728K|BRDT_uc010ota.1_Silent_p.K755K|BRDT_uc010otb.1_Silent_p.K755K|BRDT_uc001dom.3_Silent_p.K801K	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	801					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TAAAGATTAAGAATGCAGATT	0.333													A	92469985	G	A	92469985	2	1	104	1	0	0	0	0	0	0	0	1	1508	933	33	4		4	BRDT	1	92469985	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	27146	92469985	156780636	278	66892											
EPHX4	253152	broad.mit.edu	37	chr1	92515886	92515886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatttcagaatatattttacGacaccctgctcagctgttga	6	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:92515886G>A	uc001don.2	+	5	721	c.617G>A	c.(616-618)CGA>CAA	p.R206Q		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	abhydrolase domain containing 7	206						integral to membrane	hydrolase activity			central_nervous_system(1)	1						TATATTTTACGACACCCTGCT	0.318													A	92515886	G	A	92515886	3	1	104	1	0	0	0	0	1	0	0	0	5182	1058	37	1	635	1	EPHX4	1	92515886	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	45901	92515886	156734735	279	66893											
GLMN	11146	broad.mit.edu	37	chr1	92735291	92735291	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgatcttacctttgcaaaaaGacttcaatgtgccccatatt	5	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:92735291G>T	uc001dor.2	-	9	1081	c.966C>A	c.(964-966)GTC>GTA	p.V322V	GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Silent_p.V322V	NM_053274	NP_444504	Q92990	GLMN_HUMAN	glomulin	322					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			skin(1)	1		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTTGCAAAAAGACTTCAATGT	0.204									Multiple_Glomus_Tumors_(of_the_Skin)_Familial				T	92735291	G	T	92735291	2	4	104	1	0	0	0	0	0	0	0	1	6448	929	33	5		5	GLMN	1	92735291	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	219405	92735291	156515330	280	66894											
RPAP2	79871	broad.mit.edu	37	chr1	92846313	92846313	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcttggcattcagaaacattCtcaggaaggtatggtgttta	10	6	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:92846313C>A	uc001dot.2	+	12	1830	c.1721C>A	c.(1720-1722)TCT>TAT	p.S574Y	RPAP2_uc009wdh.2_RNA	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	574						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		CAGAAACATTCTCAGGAAGGT	0.373													A	92846313	C	A	92846313	3	1	104	1	0	0	0	0	1	0	0	0	13542	913	32	5	1767	5	RPAP2	1	92846313	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	111022	92846313	156404308	281	66895											
EVI5	7813	broad.mit.edu	37	chr1	93073271	93073271	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcttcgaagatggttaCtattgatctggttctaataa	8	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:93073271C>A	uc001dox.2	-	15	1803	c.1793G>T	c.(1792-1794)AGT>ATT	p.S598I	EVI5_uc010otf.1_Missense_Mutation_p.S609I|EVI5_uc001doy.1_RNA	NM_005665	NP_005656	O60447	EVI5_HUMAN	ecotropic viral integration site 5	598	Targeting to the centrosomes.|Potential.|Dimerization.|Interaction with AURKB and INCENP.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			ovary(1)|breast(1)	2		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AAGATGGTTACTATTGATCTG	0.323													A	93073271	C	A	93073271	3	1	104	1	0	0	0	0	1	0	0	0	5289	565	20	5	655	5	EVI5	1	93073271	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	226958	93073271	156177350	282	66896											
CCDC18	343099	broad.mit.edu	37	chr1	93672695	93672695	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagaaaataacaacggaaaaGaaaaattaaggatcatggca	8	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:93672695G>T	uc001dpq.2	+	9	1471	c.1303G>T	c.(1303-1305)GAA>TAA	p.E435*	CCDC18_uc009wdl.1_5'UTR	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	317	Potential.									ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CAACGGAAAAGAAAAATTAAG	0.269													T	93672695	G	T	93672695	4	4	104	1	0	0	0	0	0	1	0	0	2794	943	33	5	1337	5	CCDC18	1	93672695	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	599424	93672695	155577926	283	66897											
CCDC18	343099	broad.mit.edu	37	chr1	93712497	93712497	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatcagaattggaacttaaaGaatgtaacaaacaggtaaat	7	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:93712497G>T	uc001dpq.2	+	23	3706	c.3538G>T	c.(3538-3540)GAA>TAA	p.E1180*	CCDC18_uc009wdl.1_Nonsense_Mutation_p.E697*	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	1061	Potential.									ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GGAACTTAAAGAATGTAACAA	0.264													T	93712497	G	T	93712497	4	4	104	1	0	0	0	0	0	1	0	0	2794	943	33	5	3628	5	CCDC18	1	93712497	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	39802	93712497	155538124	284	66898											
BCAR3	8412	broad.mit.edu	37	chr1	94107889	94107889	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttccacagttgggtccagaaGatgtggatccctgaaaagag	12	8	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:94107889G>T	uc001dpz.2	-	3	603	c.328C>A	c.(328-330)CTT>ATT	p.L110I	BCAR3_uc001dqa.2_Missense_Mutation_p.L110I|BCAR3_uc001dqb.2_Missense_Mutation_p.L110I	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	110					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GGGTCCAGAAGATGTGGATCC	0.393													T	94107889	G	T	94107889	3	4	104	1	0	0	0	0	1	0	0	0	1349	942	33	5	2189	5	BCAR3	1	94107889	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	395392	94107889	155142732	285	66899											
ABCA4	24	broad.mit.edu	37	chr1	94463453	94463453	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgtgactgagtactcctcGatgagcaggctgtccttgtg	13	9	0	3	rs1801626		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:94463453G>A	uc001dqh.2	-	48	6797	c.6693C>T	c.(6691-6693)ATC>ATT	p.I2231I		NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	2231	Cytoplasmic.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGTACTCCTCGATGAGCAGGC	0.592													A	94463453	G	A	94463453	2	1	104	1	0	0	0	0	0	0	0	1	34	1048	37	1		1	ABCA4	1	94463453	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	355564	94463453	154787168	286	66900											
ABCA4	24	broad.mit.edu	37	chr1	94526167	94526167	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggaaccaggtacaccaaaTcactgcattggagacaccct	8	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:94526167T>C	uc001dqh.2	-	14	2190	c.2086A>G	c.(2086-2088)ATT>GTT	p.I696V	ABCA4_uc010otn.1_Missense_Mutation_p.I696V	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	696					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTACACCAAATCACTGCATTG	0.478													C	94526167	T	C	94526167	3	2	104	1	0	0	0	0	1	0	0	0	34	1435	50	3	4883	3	ABCA4	1	94526167	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	62714	94526167	154724454	287	66901											
ABCA4	24	broad.mit.edu	37	chr1	94528764	94528764	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctggtccagggatacatgTcagggaataccactccggcc	12	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:94528764T>C	uc001dqh.2	-	12	1768	c.1664A>G	c.(1663-1665)GAC>GGC	p.D555G	ABCA4_uc010otn.1_Missense_Mutation_p.D555G	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	555	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGATACATGTCAGGGAATAC	0.473													C	94528764	T	C	94528764	3	2	104	1	0	0	0	0	1	0	0	0	34	1667	58	3	5313	3	ABCA4	1	94528764	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2597	94528764	154721857	288	66902											
ARHGAP29	9411	broad.mit.edu	37	chr1	94640272	94640272	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatcttttgggatgctgatTcagcctcttggtctagaagc	10	9	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:94640272T>C	uc001dqj.3	-	23	3308	c.2939A>G	c.(2938-2940)GAA>GGA	p.E980G	ARHGAP29_uc009wdq.1_RNA	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	980					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GGATGCTGATTCAGCCTCTTG	0.393													C	94640272	T	C	94640272	3	2	104	1	0	0	0	0	1	0	0	0	878	1783	62	3	850	3	ARHGAP29	1	94640272	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	111508	94640272	154610349	289	66903											
ARHGAP29	9411	broad.mit.edu	37	chr1	94650597	94650597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctaaattttccaaacactttCgatgacaaacaaggagacac	5	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:94650597C>T	uc001dqj.3	-	18	2309	c.1940G>A	c.(1939-1941)CGA>CAA	p.R647Q	ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Missense_Mutation_p.R213Q	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	647	Phorbol-ester/DAG-type.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CAAACACTTTCGATGACAAAC	0.353													T	94650597	C	T	94650597	3	4	104	1	0	0	0	0	1	0	0	0	878	884	31	1	1869	1	ARHGAP29	1	94650597	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	10325	94650597	154600024	290	66904											
ARHGAP29	9411	broad.mit.edu	37	chr1	94651015	94651015	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgacatcaatgttttcttAaatgttccaagggaattggg	9	5	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:94651015A>G	uc001dqj.3	-	17	2172	c.1803T>C	c.(1801-1803)TTT>TTC	p.F601F	ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Silent_p.F167F	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	601					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATGTTTTCTTAAATGTTCCAA	0.343													G	94651015	A	G	94651015	2	3	104	1	0	0	0	0	0	0	0	1	878	359	13	3		3	ARHGAP29	1	94651015	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	418	94651015	154599606	291	66905											
DPYD	1806	broad.mit.edu	37	chr1	97548022	97548022	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgcagtgcttttcctattAcatcctaaaaatagccactg	5	11	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:97548022A>G	uc001drv.2	-	22	2908	c.2771T>C	c.(2770-2772)GTA>GCA	p.V924A		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	924					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTTTCCTATTACATCCTAAAA	0.333													G	97548022	A	G	97548022	3	3	104	1	0	0	0	0	1	0	0	0	4745	391	14	3	314	3	DPYD	1	97548022	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2897007	97548022	151702599	292	66906											
DPYD	1806	broad.mit.edu	37	chr1	97770839	97770839	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcctccatatgtagttcGctttgcaatccccactgctg	6	15	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:97770839G>A	uc001drv.2	-	18	2412	c.2275C>T	c.(2275-2277)CGA>TGA	p.R759*		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	759					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TATGTAGTTCGCTTTGCAATC	0.483													A	97770839	G	A	97770839	4	1	104	1	0	0	0	0	0	1	0	0	4745	1095	38	1	826	1	DPYD	1	97770839	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	222817	97770839	151479782	293	66907											
DPYD	1806	broad.mit.edu	37	chr1	97839170	97839170	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgccatgtggacatgataAatttaactccagggcatctg	9	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:97839170A>C	uc001drv.2	-	16	2142	c.2005T>G	c.(2005-2007)TTA>GTA	p.L669V		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	669	Uracil binding (Potential).				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GGACATGATAAATTTAACTCC	0.433													C	97839170	A	C	97839170	3	2	104	1	0	0	0	0	1	0	0	0	4745	11	1	5	1104	5	DPYD	1	97839170	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	68331	97839170	151411451	294	66908											
LPPR4	9890	broad.mit.edu	37	chr1	99772241	99772241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagcccctgaaaagggcaGccttcgccaaacttacgagc	10	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:99772241G>A	uc001dse.2	+	7	2073	c.1967G>A	c.(1966-1968)AGC>AAC	p.S656N	LPPR4_uc010oue.1_Missense_Mutation_p.S598N	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	656							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GAAAAGGGCAGCCTTCGCCAA	0.527													A	99772241	G	A	99772241	3	1	104	1	0	0	0	0	1	0	0	0	8927	971	34	2	1993	2	LPPR4	1	99772241	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1933071	99772241	149478380	295	66909											
AGL	178	broad.mit.edu	37	chr1	100380956	100380956	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attcactaggcccctgagctCtttactacagaaaaagcatg	7	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:100380956C>T	uc001dsi.1	+	31	4573	c.4173C>T	c.(4171-4173)CTC>CTT	p.L1391L	AGL_uc001dsj.1_Silent_p.L1391L|AGL_uc001dsk.1_Silent_p.L1391L|AGL_uc001dsl.1_Silent_p.L1391L|AGL_uc001dsm.1_Silent_p.L1375L|AGL_uc001dsn.1_Silent_p.L1374L	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	1391	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CCCCTGAGCTCTTTACTACAG	0.353													T	100380956	C	T	100380956	2	4	104	1	0	0	0	0	0	0	0	1	384	900	32	4		4	AGL	1	100380956	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	608715	100380956	148869665	296	66910											
HIAT1	64645	broad.mit.edu	37	chr1	100533605	100533605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcttggacgagtatatgggGacagcttggtggtggtctta	15	5	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:100533605G>A	uc001dst.2	+	6	559	c.559G>A	c.(559-561)GAC>AAC	p.D187N		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	187	Cytoplasmic (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity				0		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		AGTATATGGGGACAGCTTGGT	0.443													A	100533605	G	A	100533605	3	1	104	1	0	0	0	0	1	0	0	0	7097	1174	41	4	581	4	HIAT1	1	100533605	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	152649	100533605	148717016	297	66911											
SASS6	163786	broad.mit.edu	37	chr1	100587965	100587965	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttggcatgttcttgagtAcattgctgaaggagatctat	10	6	3	3	rs113803226		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:100587965A>G	uc001dsu.2	-	4	423	c.282T>C	c.(280-282)TGT>TGC	p.C94C	SASS6_uc009wdz.2_5'UTR	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	spindle assembly abnormal protein 6	94					centriole replication	centriole				upper_aerodigestive_tract(1)|ovary(1)	2		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		GTTCTTGAGTACATTGCTGAA	0.328													G	100587965	A	G	100587965	2	3	104	1	0	0	0	0	0	0	0	1	13850	389	14	3		3	SASS6	1	100587965	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	54360	100587965	148662656	298	66912											
VCAM1	7412	broad.mit.edu	37	chr1	101198116	101198116	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccctaacggggagctacaGcctctttctgagaatgcaac	9	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:101198116G>A	uc001dti.2	+	7	1788	c.1668G>A	c.(1666-1668)CAG>CAA	p.Q556Q	VCAM1_uc001dtj.2_Silent_p.Q464Q|VCAM1_uc010ouj.1_Silent_p.Q494Q	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	556	Ig-like C2-type 6.|Extracellular (Potential).				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGGAGCTACAGCCTCTTTCTG	0.468													A	101198116	G	A	101198116	2	1	104	1	0	0	0	0	0	0	0	1	17134	962	34	2		2	VCAM1	1	101198116	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	610151	101198116	148052505	299	66913											
VCAM1	7412	broad.mit.edu	37	chr1	101203687	101203687	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttattttccaggaagagaaAacaacaaagactatttttct	6	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:101203687A>C	uc001dti.2	+	9	2188	c.2068A>C	c.(2068-2070)AAC>CAC	p.N690H	VCAM1_uc001dtj.2_Missense_Mutation_p.N598H|VCAM1_uc010ouj.1_Missense_Mutation_p.N628H	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	690	Extracellular (Potential).				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGGAAGAGAAAACAACAAAGA	0.313													C	101203687	A	C	101203687	3	2	104	1	0	0	0	0	1	0	0	0	17134	14	1	5	2102	5	VCAM1	1	101203687	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	5571	101203687	148046934	300	66914											
SLC30A7	148867	broad.mit.edu	37	chr1	101361884	101361884	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcaatttgttcggcaagatCtcgggctggtttaggtgcgg	14	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:101361884C>T	uc001dtn.2	+	1	253	c.66C>T	c.(64-66)ATC>ATT	p.I22I	EXTL2_uc001dtk.1_5'Flank|EXTL2_uc001dtl.1_5'Flank|EXTL2_uc010ouk.1_5'Flank|EXTL2_uc001dtm.1_5'Flank|SLC30A7_uc001dto.2_Silent_p.I22I	NM_001144884	NP_001138356	Q8NEW0	ZNT7_HUMAN	zinc transporter like 2	22	Cytoplasmic (Potential).				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding				0		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TCGGCAAGATCTCGGGCTGGT	0.597													T	101361884	C	T	101361884	2	4	104	1	0	0	0	0	0	0	0	1	14560	903	32	4		4	SLC30A7	1	101361884	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	158197	101361884	147888737	301	66915											
SLC30A7	148867	broad.mit.edu	37	chr1	101362221	101362221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actactctacggcatctggaGcaactggtaaccaaagggga	11	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:101362221G>A	uc001dtn.2	+	2	363	c.176G>A	c.(175-177)AGC>AAC	p.S59N	EXTL2_uc001dtk.1_5'Flank|EXTL2_uc001dtl.1_5'Flank|EXTL2_uc010ouk.1_5'Flank|EXTL2_uc001dtm.1_5'Flank|SLC30A7_uc001dto.2_Missense_Mutation_p.S59N	NM_001144884	NP_001138356	Q8NEW0	ZNT7_HUMAN	zinc transporter like 2	59	Extracellular (Potential).				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding				0		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		GGCATCTGGAGCAACTGGTAA	0.512													A	101362221	G	A	101362221	3	1	104	1	0	0	0	0	1	0	0	0	14560	971	34	2	182	2	SLC30A7	1	101362221	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	337	101362221	147888400	302	66916											
COL11A1	1301	broad.mit.edu	37	chr1	103345388	103345388	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgacagtggtaggtgaaatTttgccgagcagaggcagtca	14	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:103345388T>G	uc001dul.2	-	66	5443	c.5125A>C	c.(5125-5127)AAT>CAT	p.N1709H	COL11A1_uc001duk.2_Missense_Mutation_p.N905H|COL11A1_uc001dum.2_Missense_Mutation_p.N1721H|COL11A1_uc001dun.2_Missense_Mutation_p.N1670H|COL11A1_uc009weh.2_Missense_Mutation_p.N1593H	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1709	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TAGGTGAAATTTTGCCGAGCA	0.418													G	103345388	T	G	103345388	3	3	104	1	0	0	0	0	1	0	0	0	3667	1841	64	5	303	5	COL11A1	1	103345388	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1983167	103345388	145905233	303	66917											
COL11A1	1301	broad.mit.edu	37	chr1	103355106	103355106	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaccaatcaggccaattaAaccaggatgtccctttgaaa	8	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:103355106A>C	uc001dul.2	-	59	4687	c.4369T>G	c.(4369-4371)TTA>GTA	p.L1457V	COL11A1_uc001duk.2_Missense_Mutation_p.L653V|COL11A1_uc001dum.2_Missense_Mutation_p.L1469V|COL11A1_uc001dun.2_Missense_Mutation_p.L1418V|COL11A1_uc009weh.2_Missense_Mutation_p.L1341V	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1457	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGGCCAATTAAACCAGGATGT	0.398													C	103355106	A	C	103355106	3	2	104	1	0	0	0	0	1	0	0	0	3667	11	1	5	1087	5	COL11A1	1	103355106	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	9718	103355106	145895515	304	66918											
COL11A1	1301	broad.mit.edu	37	chr1	103412431	103412431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctttctctccagctggacCaggaggaccctgaggtcccg	11	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:103412431C>T	uc001dul.2	-	42	3568	c.3250G>A	c.(3250-3252)GGT>AGT	p.G1084S	COL11A1_uc001duk.2_Missense_Mutation_p.G280S|COL11A1_uc001dum.2_Missense_Mutation_p.G1096S|COL11A1_uc001dun.2_Missense_Mutation_p.G1045S|COL11A1_uc009weh.2_Missense_Mutation_p.G968S	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1084	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCAGCTGGACCAGGAGGACCC	0.468													T	103412431	C	T	103412431	3	4	104	1	0	0	0	0	1	0	0	0	3667	594	21	4	2274	4	COL11A1	1	103412431	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	57325	103412431	145838190	305	66919											
NTNG1	22854	broad.mit.edu	37	chr1	107867344	107867344	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgaaatcaaagacaggttCgcgttttttgctggacctcg	10	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:107867344C>T	uc001dvh.3	+	3	1405	c.687C>T	c.(685-687)TTC>TTT	p.F229F	NTNG1_uc001dvf.3_Silent_p.F229F|NTNG1_uc010out.1_Silent_p.F229F|NTNG1_uc001dvc.3_Silent_p.F229F|NTNG1_uc001dvd.1_Silent_p.F229F	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	229	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AAGACAGGTTCGCGTTTTTTG	0.418													T	107867344	C	T	107867344	2	4	104	1	0	0	0	0	0	0	0	1	10704	883	31	1		1	NTNG1	1	107867344	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4454913	107867344	141383277	306	66920											
VAV3	10451	broad.mit.edu	37	chr1	108298072	108298072	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attctctatagatagctgaaActgtttaatttcacgaaggg	8	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:108298072A>C	uc001dvk.1	-	12	1204	c.1150T>G	c.(1150-1152)TTT>GTT	p.F384V	VAV3_uc010ouw.1_Missense_Mutation_p.F384V|VAV3_uc001dvl.1_Missense_Mutation_p.F208V|VAV3_uc010oux.1_Missense_Mutation_p.F384V	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	384					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GATAGCTGAAACTGTTTAATT	0.378													C	108298072	A	C	108298072	3	2	104	1	0	0	0	0	1	0	0	0	17130	43	2	5	1482	5	VAV3	1	108298072	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	430728	108298072	140952549	307	66921											
SLC25A24	29957	broad.mit.edu	37	chr1	108728461	108728461	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagacacaccatcattatttTtgtctaaactcttaaatgcc	3	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:108728461T>G	uc001dvn.3	-	2	513	c.299A>C	c.(298-300)AAA>ACA	p.K100T	SLC25A24_uc001dvm.2_Missense_Mutation_p.K81T	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 member 24 isoform 1	100	EF-hand 3.|3 (Potential).|Mitochondrial intermembrane (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)	1		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		ATCATTATTTTTGTCTAAACT	0.323													G	108728461	T	G	108728461	3	3	104	1	0	0	0	0	1	0	0	0	14487	1841	64	5	1170	5	SLC25A24	1	108728461	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	430389	108728461	140522160	308	66922											
C1orf59	113802	broad.mit.edu	37	chr1	109191357	109191357	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagaggtacgaaaaatTtatctccaacacagaagggt	9	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:109191357T>G	uc001dvt.3	-	8	1251	c.1013A>C	c.(1012-1014)AAA>ACA	p.K338T	C1orf59_uc001dvu.3_Missense_Mutation_p.K338T|C1orf59_uc009wer.2_3'UTR	NM_001102592	NP_001096062	Q5T8I9	HENMT_HUMAN	hypothetical protein LOC113802	338					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity				0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0152)|Lung(183;0.0895)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.163)		TACGAAAAATTTATCTCCAAC	0.478													G	109191357	T	G	109191357	3	3	104	1	0	0	0	0	1	0	0	0	2051	1841	64	5	172	5	C1orf59	1	109191357	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	462896	109191357	140059264	309	66923											
FNDC7	163479	broad.mit.edu	37	chr1	109270512	109270512	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtctcctgtccgtggtgcCgaactgtatgaaaccaaggc	12	11	1	1	rs142260451	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:109270512C>T	uc001dvx.2	+	7	1194	c.1194C>T	c.(1192-1194)GCC>GCT	p.A398A	FNDC7_uc010ova.1_Silent_p.A165A	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	399	Fibronectin type-III 5.					extracellular region				ovary(1)|skin(1)	2		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TCCGTGGTGCCGAACTGTATG	0.517													T	109270512	C	T	109270512	2	4	104	1	0	0	0	0	0	0	0	1	5973	639	23	1		1	FNDC7	1	109270512	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	79155	109270512	139980109	310	66924											
AKNAD1	254268	broad.mit.edu	37	chr1	109373197	109373197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaccattcaaggagcctgcGacagaaggcacagctcggac	11	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:109373197G>A	uc001dwa.2	-	10	2091	c.1822C>T	c.(1822-1824)CGC>TGC	p.R608C	AKNAD1_uc010ovb.1_Missense_Mutation_p.R315C|AKNAD1_uc001dwb.2_RNA	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	608										ovary(3)	3						AGGAGCCTGCGACAGAAGGCA	0.567													A	109373197	G	A	109373197	3	1	104	1	0	0	0	0	1	0	0	0	464	1058	37	1	716	1	AKNAD1	1	109373197	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	102685	109373197	139877424	311	66925											
GPSM2	29899	broad.mit.edu	37	chr1	109440141	109440141	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagaccagctgggggaagcGaaagctagtggtaatctggg	18	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:109440141G>A	uc010ovc.1	+	4	802	c.306G>A	c.(304-306)GCG>GCA	p.A102A	AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Silent_p.A102A|GPSM2_uc010ove.1_Silent_p.A102A	NM_013296	NP_037428	P81274	GPSM2_HUMAN	LGN protein	102	TPR 3.				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TGGGGGAAGCGAAAGCTAGTG	0.333													A	109440141	G	A	109440141	2	1	104	1	0	0	0	0	0	0	0	1	6735	1045	37	1		1	GPSM2	1	109440141	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	66944	109440141	139810480	312	66926											
GPSM2	29899	broad.mit.edu	37	chr1	109445747	109445747	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcgctttgaataacgttttaGaattggtgaaggaagagcat	11	4	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:109445747G>T	uc010ovc.1	+	9	1450	c.954_splice	c.e9-1	p.R318_splice	AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Splice_Site_p.R318_splice|GPSM2_uc010ove.1_Splice_Site_p.R318_splice	NM_013296	NP_037428	P81274	GPSM2_HUMAN	LGN protein						G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TAACGTTTTAGAATTGGTGAA	0.363													T	109445747	G	T	109445747	5	4	104	1	0	0	0	0	0	0	1	0	6735	956	33	5	983	5	GPSM2	1	109445747	Splice_Site	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5606	109445747	139804874	313	66927											
KIAA1324	57535	broad.mit.edu	37	chr1	109742851	109742851	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acctgctacttttggaaaaaGaatcaaaagtacatgttgcg	8	7	1	1	rs141267352		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:109742851G>T	uc001dwq.2	+	21	2935	c.2799G>T	c.(2797-2799)AAG>AAT	p.K933N	KIAA1324_uc009wex.1_Missense_Mutation_p.K883N|KIAA1324_uc009wey.2_Missense_Mutation_p.K846N|KIAA1324_uc010ovg.1_Missense_Mutation_p.K831N|KIAA1324_uc001dwr.2_Missense_Mutation_p.K583N|KIAA1324_uc001dws.1_RNA|KIAA1324_uc009wez.1_RNA	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	hypothetical protein LOC57535 precursor	933	Cytoplasmic (Potential).				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		p.K933K(1)		ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TTTGGAAAAAGAATCAAAAGT	0.438													T	109742851	G	T	109742851	3	4	104	1	0	0	0	0	1	0	0	0	8223	933	33	5	2877	5	KIAA1324	1	109742851	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	297104	109742851	139507770	314	66928											
CELSR2	1952	broad.mit.edu	37	chr1	109806711	109806711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtcagctacgagagggCcacgtgatgctgagcgtgga	17	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:109806711C>T	uc001dxa.3	+	10	5074	c.5013C>T	c.(5011-5013)GGC>GGT	p.G1671G		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1671	Extracellular (Potential).|Laminin G-like 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TACGAGAGGGCCACGTGATGC	0.597											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	109806711	C	T	109806711	2	4	104	1	0	0	0	0	0	0	0	1	3222	726	26	2		2	CELSR2	1	109806711	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	63860	109806711	139443910	315	66929											
CELSR2	1952	broad.mit.edu	37	chr1	109808788	109808788	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtggccccgtacccgcttCgggctgcctgctgctgctcc	13	17	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:109808788C>T	uc001dxa.3	+	15	6034	c.5973C>T	c.(5971-5973)TTC>TTT	p.F1991F		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1991	Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTACCCGCTTCGGGCTGCCTG	0.607													T	109808788	C	T	109808788	2	4	104	1	0	0	0	0	0	0	0	1	3222	883	31	1		1	CELSR2	1	109808788	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2077	109808788	139441833	316	66930											
PSMA5	5686	broad.mit.edu	37	chr1	109957887	109957887	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcatcaatctctacaattttCtcaatgctgctgggctccat	6	12	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:109957887C>T	uc001dxn.2	-	3	280	c.195G>A	c.(193-195)GAG>GAA	p.E65E	PSMA5_uc010ovj.1_Silent_p.E7E	NM_002790	NP_002781	P28066	PSA5_HUMAN	proteasome alpha 5 subunit	65					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity				0		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		CTACAATTTTCTCAATGCTGC	0.468													T	109957887	C	T	109957887	2	4	104	1	0	0	0	0	0	0	0	1	12670	912	32	4		4	PSMA5	1	109957887	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	149099	109957887	139292734	317	66931											
GNAI3	2773	broad.mit.edu	37	chr1	110116549	110116549	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggatggctattcagaggatGaatgtaaacaatataaagta	10	3	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:110116549G>A	uc001dxz.2	+	3	350	c.193G>A	c.(193-195)GAA>AAA	p.E65K		NM_006496	NP_006487	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein),	65					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			ovary(1)	1		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		TTCAGAGGATGAATGTAAACA	0.353													A	110116549	G	A	110116549	3	1	104	1	0	0	0	0	1	0	0	0	6506	1291	45	4	203	4	GNAI3	1	110116549	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	158662	110116549	139134072	318	66932											
EPS8L3	79574	broad.mit.edu	37	chr1	110301280	110301280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggctgaaggcctccaagtCgaggtctgctgaggacatgg	15	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:110301280C>T	uc001dyr.1	-	7	612	c.467G>A	c.(466-468)CGA>CAA	p.R156Q	EPS8L3_uc001dys.1_Missense_Mutation_p.R156Q|EPS8L3_uc001dyq.1_Missense_Mutation_p.R157Q|EPS8L3_uc009wfm.1_Missense_Mutation_p.R123Q|EPS8L3_uc009wfn.1_Missense_Mutation_p.R123Q|EPS8L3_uc009wfo.1_Missense_Mutation_p.R103Q	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	156						cytoplasm	protein binding			ovary(2)|skin(1)	3		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GCCTCCAAGTCGAGGTCTGCT	0.617													T	110301280	C	T	110301280	3	4	104	1	0	0	0	0	1	0	0	0	5197	884	31	1	1366	1	EPS8L3	1	110301280	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	184731	110301280	138949341	319	66933											
RBM15	64783	broad.mit.edu	37	chr1	110884015	110884015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctgagagtgaccgcccacGaaaacgtcactgcgctcctt	9	15	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:110884015G>A	uc001dzl.1	+	1	2071	c.1988G>A	c.(1987-1989)CGA>CAA	p.R663Q	RBM15_uc001dzm.1_Missense_Mutation_p.R663Q|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	663	Arg-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GACCGCCCACGAAAACGTCAC	0.567			T	MKL1	acute megakaryocytic leukemia								A	110884015	G	A	110884015	3	1	104	1	0	0	0	0	1	0	0	0	13116	1058	37	1	1990	1	RBM15	1	110884015	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	582735	110884015	138366606	320	66934											
KCNA10	3744	broad.mit.edu	37	chr1	111060927	111060927	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaggagatttcatcagcaaaGatatcaatgggaacattggc	10	6	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:111060927G>T	uc001dzt.1	-	1	871	c.483C>A	c.(481-483)ATC>ATA	p.I161I		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	161						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CATCAGCAAAGATATCAATGG	0.468													T	111060927	G	T	111060927	2	4	104	1	0	0	0	0	0	0	0	1	8002	932	33	5		5	KCNA10	1	111060927	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	176912	111060927	138189694	321	66935											
KCNA3	3738	broad.mit.edu	37	chr1	111216495	111216495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaggacaagcgaagaaccGcaccagcagttcgaaggaga	13	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:111216495G>A	uc001dzv.1	-	1	1161	c.937C>T	c.(937-939)CGG>TGG	p.R313W		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	313	Helical; Name=Segment S2; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCGAAGAACCGCACCAGCAGT	0.547													A	111216495	G	A	111216495	3	1	104	1	0	0	0	0	1	0	0	0	8004	1086	38	1	794	1	KCNA3	1	111216495	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	155568	111216495	138034126	322	66936											
KCNA3	3738	broad.mit.edu	37	chr1	111217087	111217087	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggtcttcagctgcgtctcGaagcgcagcccggagatgtt	14	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:111217087G>A	uc001dzv.1	-	1	569	c.345C>T	c.(343-345)TTC>TTT	p.F115F		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	115						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTGCGTCTCGAAGCGCAGCC	0.682													A	111217087	G	A	111217087	2	1	104	1	0	0	0	0	0	0	0	1	8004	1049	37	1		1	KCNA3	1	111217087	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	592	111217087	138033534	323	66937											
KCNA3	3738	broad.mit.edu	37	chr1	111217183	111217183	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcggctcgtagcggtcGcagccgccgccgccacagcc	15	18	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:111217183G>A	uc001dzv.1	-	1	473	c.249C>T	c.(247-249)TGC>TGT	p.C83C		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	83						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGTAGCGGTCGCAGCCGCCGC	0.746													A	111217183	G	A	111217183	2	1	104	1	0	0	0	0	0	0	0	1	8004	1079	38	1		1	KCNA3	1	111217183	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	96	111217183	138033438	324	66938											
CD53	963	broad.mit.edu	37	chr1	111440442	111440442	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcttctagggttgctatgcGaaagcaagactgtggtttca	12	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:111440442G>A	uc001dzw.2	+	8	687	c.516G>A	c.(514-516)GCG>GCA	p.A172A	CD53_uc001dzx.2_Silent_p.A172A|CD53_uc010owa.1_Silent_p.A113A|CD53_uc001dzy.2_Intron	NM_001040033	NP_001035122	P19397	CD53_HUMAN	CD53 antigen	172	Extracellular (Potential).				signal transduction	integral to membrane|plasma membrane					0		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		GTTGCTATGCGAAAGCAAGAC	0.328													A	111440442	G	A	111440442	2	1	104	1	0	0	0	0	0	0	0	1	3023	1045	37	1		1	CD53	1	111440442	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	223259	111440442	137810179	325	66939											
C1orf103	55791	broad.mit.edu	37	chr1	111492561	111492561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaaggaatcgaaaccttctCcagaggtcaaatggtcagga	10	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:111492561C>T	uc001eaa.2	-	3	2037	c.1781G>A	c.(1780-1782)GGA>GAA	p.G594E	C1orf103_uc001dzz.2_Missense_Mutation_p.G58E|C1orf103_uc001eab.2_Missense_Mutation_p.G58E|C1orf103_uc001eac.1_Missense_Mutation_p.G58E	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	receptor-interacting factor 1 isoform 1	594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding				0		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)		GAAACCTTCTCCAGAGGTCAA	0.393													T	111492561	C	T	111492561	3	4	104	1	0	0	0	0	1	0	0	0	1977	855	30	4	536	4	C1orf103	1	111492561	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	52119	111492561	137758060	326	66940											
DRAM2	128338	broad.mit.edu	37	chr1	111661436	111661436	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccttcttacctgaaaatcAcgaatgtaagtcaggaaaaa	7	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:111661436A>G	uc001ead.3	-	8	941	c.684T>C	c.(682-684)CGT>CGC	p.R228R	DRAM2_uc001eae.3_Silent_p.R228R|DRAM2_uc009wfy.2_RNA|DRAM2_uc001eaf.3_Silent_p.R98R	NM_178454	NP_848549	Q6UX65	DRAM2_HUMAN	transmembrane protein 77	228					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane					0						CCTGAAAATCACGAATGTAAG	0.393													G	111661436	A	G	111661436	2	3	104	1	0	0	0	0	0	0	0	1	4754	146	6	3		3	DRAM2	1	111661436	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	168875	111661436	137589185	327	66941											
C1orf88	128344	broad.mit.edu	37	chr1	111889538	111889538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctttattttagacgctgCggataactacccttttggaa	7	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:111889538C>T	uc001eaw.2	+	2	106	c.26C>T	c.(25-27)GCG>GTG	p.A9V	C1orf88_uc001eax.2_Missense_Mutation_p.A9V|C1orf88_uc009wge.1_Missense_Mutation_p.A9V|C1orf88_uc001eay.2_5'Flank	NM_181643	NP_857594	Q8TCI5	CA088_HUMAN	hypothetical protein LOC128344	9										ovary(1)|skin(1)	2		all_cancers(81;3.21e-05)|all_epithelial(167;1.19e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|Colorectal(144;0.0301)|all cancers(265;0.0677)|Epithelial(280;0.0897)|COAD - Colon adenocarcinoma(174;0.116)|LUSC - Lung squamous cell carcinoma(189;0.135)		TTAGACGCTGCGGATAACTAC	0.532													T	111889538	C	T	111889538	3	4	104	1	0	0	0	0	1	0	0	0	2065	768	27	1	32	1	C1orf88	1	111889538	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	228102	111889538	137361083	328	66942											
LRIG2	9860	broad.mit.edu	37	chr1	113638552	113638552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggtggttgtatggcttgcGaatgttacagcagctctatg	15	6	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:113638552G>A	uc001edf.1	+	7	1058	c.860G>A	c.(859-861)CGA>CAA	p.R287Q	LRIG2_uc009wgn.1_Missense_Mutation_p.R184Q	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	287	Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TATGGCTTGCGAATGTTACAG	0.433													A	113638552	G	A	113638552	3	1	104	1	0	0	0	0	1	0	0	0	8945	1058	37	1	886	1	LRIG2	1	113638552	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1749014	113638552	135612069	329	66943											
LRIG2	9860	broad.mit.edu	37	chr1	113638635	113638635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttctgccaaagactatccGaactgtaagtgttggatagc	10	8	1	1	rs149797505	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:113638635G>A	uc001edf.1	+	7	1141	c.943G>A	c.(943-945)GAA>AAA	p.E315K	LRIG2_uc009wgn.1_Missense_Mutation_p.E212K	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	315	LRR 11.|Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AAGACTATCCGAACTGTAAGT	0.443													A	113638635	G	A	113638635	3	1	104	1	0	0	0	0	1	0	0	0	8945	1059	37	1	969	1	LRIG2	1	113638635	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	83	113638635	135611986	330	66944											
MAGI3	260425	broad.mit.edu	37	chr1	114128214	114128214	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctattaatggcagtggaaaCgcaggtttgtaaatagatga	12	4	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:114128214C>T	uc001edk.2	+	4	940	c.759C>T	c.(757-759)AAC>AAT	p.N253N	MAGI3_uc001edh.3_Silent_p.N253N|MAGI3_uc001edi.3_Silent_p.N253N|MAGI3_uc010owm.1_Silent_p.N253N	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	253	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAGTGGAAACGCAGGTTTGT	0.358													T	114128214	C	T	114128214	2	4	104	1	0	0	0	0	0	0	0	1	9192	535	19	1		1	MAGI3	1	114128214	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	489579	114128214	135122407	331	66945											
PHTF1	10745	broad.mit.edu	37	chr1	114246728	114246728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacaacaaatgaaagcaatcGaaagtgtcagtaggaaaacc	8	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:114246728G>A	uc009wgp.1	-	14	2317	c.1865C>T	c.(1864-1866)TCG>TTG	p.S622L	PHTF1_uc001edn.2_Missense_Mutation_p.S622L|PHTF1_uc001edm.2_Missense_Mutation_p.S379L	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	622						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAGCAATCGAAAGTGTCAG	0.388													A	114246728	G	A	114246728	3	1	104	1	0	0	0	0	1	0	0	0	11862	1059	37	1	443	1	PHTF1	1	114246728	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	118514	114246728	135003893	332	66946											
AP4B1	10717	broad.mit.edu	37	chr1	114438555	114438555	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaagtccaagagtagggTcagatttagggctacacaga	11	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:114438555T>C	uc001eeb.2	-	9	1759	c.1616A>G	c.(1615-1617)GAC>GGC	p.D539G	uc001edv.1_Intron|AP4B1_uc001eec.2_Missense_Mutation_p.D371G|AP4B1_uc001eed.2_Missense_Mutation_p.D539G|AP4B1_uc010owp.1_Missense_Mutation_p.D440G|AP4B1_uc001eea.1_3'UTR|AP4B1_uc001eee.1_Missense_Mutation_p.D66G	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1	539					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			ovary(3)|central_nervous_system(1)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGAGTAGGGTCAGATTTAGG	0.493													C	114438555	T	C	114438555	3	2	104	1	0	0	0	0	1	0	0	0	751	1667	58	3	611	3	AP4B1	1	114438555	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	191827	114438555	134812066	333	66947											
DCLRE1B	64858	broad.mit.edu	37	chr1	114454281	114454281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaaggtgttgtgtttgaatCccctgaggaaagtgctgatc	12	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:114454281C>T	uc001eeg.2	+	4	1238	c.1067C>T	c.(1066-1068)TCC>TTC	p.S356F	DCLRE1B_uc001eeh.2_Missense_Mutation_p.S230F|DCLRE1B_uc001eei.2_Missense_Mutation_p.S230F	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B (PSO2 homolog, S.	356					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding				0	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGTTTGAATCCCCTGAGGAA	0.478								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					T	114454281	C	T	114454281	3	4	104	1	0	0	0	0	1	0	0	0	4295	855	30	4	1081	4	DCLRE1B	1	114454281	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	15726	114454281	134796340	334	66948											
SYT6	148281	broad.mit.edu	37	chr1	114682360	114682360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggctgatcttcacggccGcctccaggaagcccagggtg	14	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:114682360G>A	uc001eev.2	-	2	384	c.134C>T	c.(133-135)GCG>GTG	p.A45V		NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN	synaptotagmin VI	130	Cytoplasmic (Potential).				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCACGGCCGCCTCCAGGAA	0.612													A	114682360	G	A	114682360	3	1	104	1	0	0	0	0	1	0	0	0	15475	1087	38	1	1167	1	SYT6	1	114682360	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	228079	114682360	134568261	335	66949											
TRIM33	51592	broad.mit.edu	37	chr1	114964188	114964188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatagttgctgtagtagggCtcgttgggttgattgtggtg	16	5	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:114964188C>T	uc001eew.2	-	11	2015	c.1931G>A	c.(1930-1932)AGC>AAC	p.S644N	TRIM33_uc010owr.1_Missense_Mutation_p.S234N|TRIM33_uc010ows.1_Missense_Mutation_p.S252N|TRIM33_uc001eex.2_Missense_Mutation_p.S644N	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	644					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTAGTAGGGCTCGTTGGGTT	0.463			T	RET	papillary thyroid								T	114964188	C	T	114964188	3	4	104	1	0	0	0	0	1	0	0	0	16504	797	28	2	1492	2	TRIM33	1	114964188	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	281828	114964188	134286433	336	66950											
TRIM33	51592	broad.mit.edu	37	chr1	114976274	114976274	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagctgcaaaatgaacataAttcttcttctcaagaagttt	6	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:114976274A>C	uc001eew.2	-	5	1089	c.1005T>G	c.(1003-1005)AAT>AAG	p.N335K	TRIM33_uc010ows.1_5'UTR|TRIM33_uc001eex.2_Missense_Mutation_p.N335K	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	335	Necessary for oligomerization.|Potential.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATGAACATAATTCTTCTTCT	0.333			T	RET	papillary thyroid								C	114976274	A	C	114976274	3	2	104	1	0	0	0	0	1	0	0	0	16504	98	4	5	2442	5	TRIM33	1	114976274	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	12086	114976274	134274347	337	66951											
TRIM33	51592	broad.mit.edu	37	chr1	115006983	115006983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatctgtctgcattcttggCggcatactgggcaccgtatt	10	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:115006983C>T	uc001eew.2	-	2	638	c.554G>A	c.(553-555)CGC>CAC	p.R185H	TRIM33_uc010ows.1_5'Flank|TRIM33_uc001eex.2_Missense_Mutation_p.R185H	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	185					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCATTCTTGGCGGCATACTGG	0.358			T	RET	papillary thyroid								T	115006983	C	T	115006983	3	4	104	1	0	0	0	0	1	0	0	0	16504	768	27	1	2905	1	TRIM33	1	115006983	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	30709	115006983	134243638	338	66952											
DENND2C	163259	broad.mit.edu	37	chr1	115078697	115078697	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacggctgacacattcctgGagcacatgtgccacctggac	10	15	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:115078697G>A	uc001eez.2	-	29		c.4946C>T				NM_198459		Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C											skin(3)	3	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACATTCCTGGAGCACATGTG	0.562													A	115078697	G	A	115078697	1	1	104	0	1	0	0	0	0	0	0	0	4430	1189	41	4		4	DENND2C	1	115078697	RNA	SNP	G	TCGA-BR-8680-01A-11D-2394-08	71714	115078697	134171924	339	66953											
DENND2C	163259	broad.mit.edu	37	chr1	115130017	115130017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaactaaccaagactccGcaaaattctattcatcccac	3	15	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:115130017G>A	uc001efd.1	-	20	3448	c.2746C>T	c.(2746-2748)CGG>TGG	p.R916W	DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.R859W	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	916										skin(3)	3	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAAGACTCCGCAAAATTCTA	0.323													A	115130017	G	A	115130017	3	1	104	1	0	0	0	0	1	0	0	0	4430	1086	38	1	48	1	DENND2C	1	115130017	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	51320	115130017	134120604	340	66954											
DENND2C	163259	broad.mit.edu	37	chr1	115168177	115168177	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacagtatttgtgaggtataGaagtttcctggaggtaatga	12	4	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:115168177G>T	uc001efd.1	-	4	1131	c.429C>A	c.(427-429)TTC>TTA	p.F143L	DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.F143L	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	143										skin(3)	3	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGAGGTATAGAAGTTTCCTG	0.373													T	115168177	G	T	115168177	3	4	104	1	0	0	0	0	1	0	0	0	4430	933	33	5	2254	5	DENND2C	1	115168177	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	38160	115168177	134082444	341	66955											
DENND2C	163259	broad.mit.edu	37	chr1	115168398	115168398	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acggctggttacatccaagtTtttgctctttctctcagcta	7	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:115168398T>G	uc001efd.1	-	4	910	c.208A>C	c.(208-210)AAC>CAC	p.N70H	DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.N70H	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	70										skin(3)	3	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACATCCAAGTTTTTGCTCTTT	0.358													G	115168398	T	G	115168398	3	3	104	1	0	0	0	0	1	0	0	0	4430	1841	64	5	2475	5	DENND2C	1	115168398	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	221	115168398	134082223	342	66956											
DENND2C	163259	broad.mit.edu	37	chr1	115168534	115168534	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccttcccattgagaaatTttttgtttgatgtttttgca	6	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:115168534T>G	uc001efd.1	-	4	774	c.72A>C	c.(70-72)AAA>AAC	p.K24N	DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.K24N	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	24										skin(3)	3	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTGAGAAATTTTTTGTTTGA	0.413													G	115168534	T	G	115168534	3	3	104	1	0	0	0	0	1	0	0	0	4430	1838	64	5	2611	5	DENND2C	1	115168534	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	136	115168534	134082087	343	66957											
AMPD1	270	broad.mit.edu	37	chr1	115216304	115216304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacactgttccttgccacttCgcacatatcacaggtgctca	7	14	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:115216304C>T	uc001efe.1	-	15	2125	c.2041G>A	c.(2041-2043)GAA>AAA	p.E681K	AMPD1_uc001eff.1_Missense_Mutation_p.E677K	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	681					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CTTGCCACTTCGCACATATCA	0.433													T	115216304	C	T	115216304	3	4	104	1	0	0	0	0	1	0	0	0	585	893	31	1	210	1	AMPD1	1	115216304	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	47770	115216304	134034317	344	66958											
AMPD1	270	broad.mit.edu	37	chr1	115218219	115218219	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tagtaagtgtaagatggattCttttccaatgtccactcctg	8	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:115218219C>A	uc001efe.1	-	12	1695	c.1611G>T	c.(1609-1611)AAG>AAT	p.K537N	AMPD1_uc001eff.1_Missense_Mutation_p.K533N	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	537					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AAGATGGATTCTTTTCCAATG	0.478													A	115218219	C	A	115218219	3	1	104	1	0	0	0	0	1	0	0	0	585	912	32	5	652	5	AMPD1	1	115218219	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1915	115218219	134032402	345	66959											
AMPD1	270	broad.mit.edu	37	chr1	115226903	115226903	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggttttagggaacctctgaAacgacttctgcatgtatttc	10	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:115226903A>C	uc001efe.1	-	5	548	c.464T>G	c.(463-465)TTT>TGT	p.F155C	AMPD1_uc001eff.1_Missense_Mutation_p.F151C	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	155					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GAACCTCTGAAACGACTTCTG	0.403													C	115226903	A	C	115226903	3	2	104	1	0	0	0	0	1	0	0	0	585	14	1	5	1827	5	AMPD1	1	115226903	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	8684	115226903	134023718	346	66960											
SYCP1	6847	broad.mit.edu	37	chr1	115428199	115428199	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatcaattgagaaacagcaTcatttgactaaagaactaga	6	7	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:115428199T>C	uc001efr.2	+	13	1163	c.954T>C	c.(952-954)CAT>CAC	p.H318H	SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Silent_p.H318H|SYCP1_uc009wgw.2_Silent_p.H318H	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	318	Potential.				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding			skin(1)	1	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)		AGAAACAGCATCATTTGACTA	0.274													C	115428199	T	C	115428199	2	2	104	1	0	0	0	0	0	0	0	1	15428	1432	50	3		3	SYCP1	1	115428199	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	201296	115428199	133822422	347	66961											
TSHB	7252	broad.mit.edu	37	chr1	115576140	115576140	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgctggatattgtatgAcacgggtatgtagttcatgt	12	5	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:115576140A>G	uc001efs.1	+	2	225	c.157A>G	c.(157-159)ACA>GCA	p.T53A		NM_000549	NP_000540	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta precursor	53					anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity				0	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|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)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		ATATTGTATGACACGGGTATG	0.378													G	115576140	A	G	115576140	3	3	104	1	0	0	0	0	1	0	0	0	16618	275	10	3	159	3	TSHB	1	115576140	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	147941	115576140	133674481	348	66962											
ATP1A1	476	broad.mit.edu	37	chr1	116941321	116941321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacattggggttgctatgGggattgctggctcagatgtg	16	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:116941321G>A	uc001ege.2	+	16	2542	c.2203G>A	c.(2203-2205)GGG>AGG	p.G735R	ATP1A1_uc010owv.1_Missense_Mutation_p.G704R|ATP1A1_uc010oww.1_Missense_Mutation_p.G735R|ATP1A1_uc010owx.1_Missense_Mutation_p.G704R|C1orf203_uc009whb.2_Intron|ATP1A1_uc001egh.2_5'Flank	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	735	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GGTTGCTATGGGGATTGCTGG	0.498													A	116941321	G	A	116941321	3	1	104	1	0	0	0	0	1	0	0	0	1128	1232	43	4	2281	4	ATP1A1	1	116941321	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1365181	116941321	132309300	349	66963											
CD101	9398	broad.mit.edu	37	chr1	117560012	117560012	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagacagtggcacatatgAgtgcagagtatctgagaagt	12	7	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:117560012A>C	uc010oxb.1	+	5	1587	c.1529A>C	c.(1528-1530)GAG>GCG	p.E510A	CD101_uc009whd.2_Missense_Mutation_p.E510A|CD101_uc010oxc.1_Missense_Mutation_p.E510A|CD101_uc010oxd.1_Missense_Mutation_p.E448A	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	510	Extracellular (Potential).|Ig-like C2-type 4.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						GGCACATATGAGTGCAGAGTA	0.498													C	117560012	A	C	117560012	3	2	104	1	0	0	0	0	1	0	0	0	2962	304	11	5	1547	5	CD101	1	117560012	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	618691	117560012	131690609	350	66964											
CD101	9398	broad.mit.edu	37	chr1	117568169	117568169	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagtgtactggaccgaaAatgtgactgagcacagagaa	11	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:117568169A>C	uc010oxb.1	+	8	2525	c.2467A>C	c.(2467-2469)AAT>CAT	p.N823H	CD101_uc009whd.2_Missense_Mutation_p.N823H|CD101_uc010oxc.1_Missense_Mutation_p.N823H|CD101_uc010oxd.1_Missense_Mutation_p.N761H	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	823	Ig-like C2-type 7.|Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						CTGGACCGAAAATGTGACTGA	0.463													C	117568169	A	C	117568169	3	2	104	1	0	0	0	0	1	0	0	0	2962	14	1	5	2497	5	CD101	1	117568169	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	8157	117568169	131682452	351	66965											
TTF2	8458	broad.mit.edu	37	chr1	117617849	117617849	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctggaggcacacacaaaagaGacttttctgaaattaaatct	7	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:117617849G>A	uc001egy.2	+	5	663	c.643G>A	c.(643-645)GAC>AAC	p.D215N	TTF2_uc001egx.1_Missense_Mutation_p.D215N	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	215					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		ACACAAAAGAGACTTTTCTGA	0.423													A	117617849	G	A	117617849	3	1	104	1	0	0	0	0	1	0	0	0	16716	942	33	4	661	4	TTF2	1	117617849	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	49680	117617849	131632772	352	66966											
TTF2	8458	broad.mit.edu	37	chr1	117631460	117631460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttcgaatagcctgggctcGaatcatattggatgaagctc	11	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:117631460G>A	uc001egy.2	+	13	2218	c.2198G>A	c.(2197-2199)CGA>CAA	p.R733Q		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	733	Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GCCTGGGCTCGAATCATATTG	0.478													A	117631460	G	A	117631460	3	1	104	1	0	0	0	0	1	0	0	0	16716	1058	37	1	2248	1	TTF2	1	117631460	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13611	117631460	131619161	353	66967											
TTF2	8458	broad.mit.edu	37	chr1	117632771	117632771	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaacggttaagtattttaAccaagagccttttgctgagg	11	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:117632771A>G	uc001egy.2	+	14	2457	c.2437A>G	c.(2437-2439)ACC>GCC	p.T813A		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	813					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AAGTATTTTAACCAAGAGCCT	0.468													G	117632771	A	G	117632771	3	3	104	1	0	0	0	0	1	0	0	0	16716	43	2	3	2491	3	TTF2	1	117632771	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1311	117632771	131617850	354	66968											
TRIM45	80263	broad.mit.edu	37	chr1	117659354	117659354	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggccgtctgtttctcccgGgctctgtggaggtctgaaaa	14	10	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:117659354G>A	uc001egz.2	-	3	1824	c.1236C>T	c.(1234-1236)GCC>GCT	p.A412A	TRIM45_uc009whe.2_Silent_p.A394A|TRIM45_uc001eha.2_Silent_p.A308A	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	tripartite motif-containing 45 isoform 1	412	Filamin.					cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GTTTCTCCCGGGCTCTGTGGA	0.498													A	117659354	G	A	117659354	2	1	104	1	0	0	0	0	0	0	0	1	16517	1219	43	4		4	TRIM45	1	117659354	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	26583	117659354	131591267	355	66969											
MAN1A2	10905	broad.mit.edu	37	chr1	117944919	117944919	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaattcgagcagaaattcaGacagagaaaaataaggtagt	10	4	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:117944919G>A	uc001ehd.1	+	2	1135	c.414G>A	c.(412-414)CAG>CAA	p.Q138Q	MAN1A2_uc009whg.1_Intron	NM_006699	NP_006690	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	138	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity				0	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		CAGAAATTCAGACAGAGAAAA	0.403													A	117944919	G	A	117944919	2	1	104	1	0	0	0	0	0	0	0	1	9211	933	33	4		4	MAN1A2	1	117944919	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	285565	117944919	131305702	356	66970											
MAN1A2	10905	broad.mit.edu	37	chr1	118065574	118065574	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcaggtaatcctgctgttCgatgaaagcagttccagaag	10	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:118065574C>T	uc001ehd.1	+	13	2642	c.1921C>T	c.(1921-1923)CGA>TGA	p.R641*		NM_006699	NP_006690	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	641	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity				0	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TCCTGCTGTTCGATGAAAGCA	0.448													T	118065574	C	T	118065574	4	4	104	1	0	0	0	0	0	1	0	0	9211	876	31	1	1971	1	MAN1A2	1	118065574	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	120655	118065574	131185047	357	66971											
SPAG17	200162	broad.mit.edu	37	chr1	118514668	118514668	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcctccaacagaatcttgCacctttgcattaagaaaaaa	4	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:118514668C>A	uc001ehk.2	-	45	6212	c.6144G>T	c.(6142-6144)GTG>GTT	p.V2048V		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2048						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CAGAATCTTGCACCTTTGCAT	0.363													A	118514668	C	A	118514668	2	1	104	1	0	0	0	0	0	0	0	1	14979	697	25	5		5	SPAG17	1	118514668	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	449094	118514668	130735953	358	66972											
SPAG17	200162	broad.mit.edu	37	chr1	118583459	118583459	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatttcccatattgtatccGtgaaactagaagagaaaata	6	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:118583459G>A	uc001ehk.2	-	22	3128	c.3060C>T	c.(3058-3060)CAC>CAT	p.H1020H		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1020						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TATTGTATCCGTGAAACTAGA	0.373													A	118583459	G	A	118583459	2	1	104	1	0	0	0	0	0	0	0	1	14979	1136	40	1		1	SPAG17	1	118583459	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	68791	118583459	130667162	359	66973											
SPAG17	200162	broad.mit.edu	37	chr1	118616546	118616546	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agactgcgctgctgtgttttCtttatgtcctctaaatctgc	8	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:118616546C>A	uc001ehk.2	-	17	2384	c.2316G>T	c.(2314-2316)AAG>AAT	p.K772N		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	772						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCTGTGTTTTCTTTATGTCCT	0.348													A	118616546	C	A	118616546	3	1	104	1	0	0	0	0	1	0	0	0	14979	912	32	5	4483	5	SPAG17	1	118616546	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	33087	118616546	130634075	360	66974											
WARS2	10352	broad.mit.edu	37	chr1	119575586	119575586	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcacacagtgtatgctaatTctttggcttttgctgatcca	9	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:119575586T>G	uc001ehn.2	-	6	1059	c.1031A>C	c.(1030-1032)GAA>GCA	p.E344A	WARS2_uc010oxf.1_Missense_Mutation_p.E250A|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.E287A|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	344					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GTATGCTAATTCTTTGGCTTT	0.413													G	119575586	T	G	119575586	3	3	104	1	0	0	0	0	1	0	0	0	17247	1783	62	5	55	5	WARS2	1	119575586	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	959040	119575586	129675035	361	66975											
HAO2	51179	broad.mit.edu	37	chr1	119927408	119927408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctttacagctgcccaagCggctggtatctgctacatca	9	12	2	0	rs142375074	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:119927408C>T	uc001ehq.1	+	5	645	c.293C>T	c.(292-294)GCG>GTG	p.A98V	HAO2_uc001ehr.1_Missense_Mutation_p.A98V	NM_001005783	NP_001005783	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2	98	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			ovary(2)|skin(2)	4	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GCTGCCCAAGCGGCTGGTATC	0.547													T	119927408	C	T	119927408	3	4	104	1	0	0	0	0	1	0	0	0	6952	768	27	1	303	1	HAO2	1	119927408	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	351822	119927408	129323213	362	66976											
HSD3B1	3283	broad.mit.edu	37	chr1	120056677	120056677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggaatctgaaaaacggCggcaccctgtacacttgtgc	13	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:120056677C>T	uc001ehv.1	+	4	676	c.531C>T	c.(529-531)GGC>GGT	p.G177G	HSD3B1_uc001ehw.2_Silent_p.G179G	NM_000862	NP_000853	P14060	3BHS1_HUMAN	3 beta-hydroxysteroid dehydrogenase 1	177					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TGAAAAACGGCGGCACCCTGT	0.512													T	120056677	C	T	120056677	2	4	104	1	0	0	0	0	0	0	0	1	7390	755	27	1		1	HSD3B1	1	120056677	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	129269	120056677	129193944	363	66977											
HMGCS2	3158	broad.mit.edu	37	chr1	120298174	120298174	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgagaggcctttagaagtgCtttatccaggtccttgttgg	12	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:120298174C>A	uc001eid.2	-	6	1114	c.1063G>T	c.(1063-1065)GCA>TCA	p.A355S	HMGCS2_uc010oxj.1_Missense_Mutation_p.A313S|HMGCS2_uc001eie.2_Missense_Mutation_p.A263S	NM_005518	NP_005509	P54868	HMCS2_HUMAN	hydroxymethylglutaryl-CoA synthase 2 isoform 1	355					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			ovary(2)	2	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TTTAGAAGTGCTTTATCCAGG	0.537													A	120298174	C	A	120298174	3	1	104	1	0	0	0	0	1	0	0	0	7233	797	28	5	479	5	HMGCS2	1	120298174	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	241497	120298174	128952447	364	66978											
NBPF7	343505	broad.mit.edu	37	chr1	120381959	120381959	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catggctatttgaataagtgAtggcacattcctccagtgag	10	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:120381959A>C	uc010oxk.1	-	5	1307	c.686T>G	c.(685-687)ATC>AGC	p.I229S		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	hypothetical protein LOC343505	229	NBPF 1.					cytoplasm				ovary(1)|skin(1)	2	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		TGAATAAGTGATGGCACATTC	0.458													C	120381959	A	C	120381959	3	2	104	1	0	0	0	0	1	0	0	0	10198	333	12	5	594	5	NBPF7	1	120381959	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	83785	120381959	128868662	365	66979											
NBPF7	343505	broad.mit.edu	37	chr1	120386979	120386979	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atttgagttacaagaaatttCtgcttcatgtttctgaactg	7	6	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:120386979C>T	uc010oxk.1	-	1	801	c.180G>A	c.(178-180)CAG>CAA	p.Q60Q		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	hypothetical protein LOC343505	60						cytoplasm				ovary(1)|skin(1)	2	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		CAAGAAATTTCTGCTTCATGT	0.438											OREG0013730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	120386979	C	T	120386979	2	4	104	1	0	0	0	0	0	0	0	1	10198	912	32	4		4	NBPF7	1	120386979	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5020	120386979	128863642	366	66980											
NOTCH2	4853	broad.mit.edu	37	chr1	120480508	120480508	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaggctgctatgtcacaagaGacattgggcacgtcacaata	11	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:120480508G>A	uc001eik.2	-	20	3565	c.3309C>T	c.(3307-3309)GTC>GTT	p.V1103V	NOTCH2_uc001eil.2_Silent_p.V1103V	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1103	EGF-like 29.|Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTCACAAGAGACATTGGGCA	0.488			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				A	120480508	G	A	120480508	2	1	104	1	0	0	0	0	0	0	0	1	10548	929	33	4		4	NOTCH2	1	120480508	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	93529	120480508	128770113	367	66981											
PDE4DIP	9659	broad.mit.edu	37	chr1	144854531	144854531	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacctacgctggctgacaatGaactgttccatgctctcctt	7	13	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:144854531G>T	uc001elw.3	-	42	7230	c.6939C>A	c.(6937-6939)TTC>TTA	p.F2313L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.F2207L|PDE4DIP_uc001elv.3_Missense_Mutation_p.F1320L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	2313					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGCTGACAATGAACTGTTCCA	0.527			T	PDGFRB	MPD								T	144854531	G	T	144854531	3	4	104	1	0	0	0	0	1	0	0	0	11643	1281	45	5	113	5	PDE4DIP	1	144854531	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	24374023	144854531	104396090	368	66982											
PDE4DIP	9659	broad.mit.edu	37	chr1	144923689	144923689	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcatagtactaatcataCcttgttggtggcctctgttt	10	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:144923689C>T	uc001elw.3	-	6	1059	c.768_splice	c.e6+1	p.K256_splice	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Splice_Site_p.K322_splice|PDE4DIP_uc001emc.1_Splice_Site_p.K256_splice|PDE4DIP_uc001emd.1_Splice_Site_p.K256_splice|PDE4DIP_uc001emb.1_Splice_Site_p.K419_splice|PDE4DIP_uc001eme.1_5'Flank|PDE4DIP_uc001emf.1_Splice_Site_p.K43_splice	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform						cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACTAATCATACCTTGTTGGTG	0.458			T	PDGFRB	MPD								T	144923689	C	T	144923689	5	4	104	1	0	0	0	0	0	0	1	0	11643	521	18	4	6437	4	PDE4DIP	1	144923689	Splice_Site	SNP	C	TCGA-BR-8680-01A-11D-2394-08	69158	144923689	104326932	369	66983											
PDE4DIP	9659	broad.mit.edu	37	chr1	144955243	144955243	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatccagatgctgtttcttgTcctggagttctcgtttcaag	9	9	3	1	rs142987550		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:144955243T>C	uc001elw.3	-	2	482	c.191A>G	c.(190-192)GAC>GGC	p.D64G	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.D130G|PDE4DIP_uc001emc.1_Missense_Mutation_p.D64G|PDE4DIP_uc001emd.1_Missense_Mutation_p.D64G|PDE4DIP_uc001emg.1_Missense_Mutation_p.D64G|PDE4DIP_uc001emh.2_Missense_Mutation_p.D201G	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	64	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTGTTTCTTGTCCTGGAGTTC	0.403			T	PDGFRB	MPD								C	144955243	T	C	144955243	3	2	104	1	0	0	0	0	1	0	0	0	11643	1667	58	3	8164	3	PDE4DIP	1	144955243	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	31554	144955243	104295378	370	66984											
PDE4DIP	9659	broad.mit.edu	37	chr1	145075016	145075016	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggattgattttagaaggaacTtgtcctgcatggcctccatc	10	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:145075016T>G	uc001emk.2	-	2	495	c.278A>C	c.(277-279)AAG>ACG	p.K93T	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001emh.2_Intron			Q5VU43	MYOME_HUMAN	SubName: Full=Phosphodiesterase 4D interacting protein;	Error:Variant_position_missing_in_Q5VU43_after_alignment					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TAGAAGGAACTTGTCCTGCAT	0.493			T	PDGFRB	MPD								G	145075016	T	G	145075016	3	3	104	1	0	0	0	0	1	0	0	0	11643	1624	56	5		5	PDE4DIP	1	145075016	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	119773	145075016	104175605	371	66985											
SEC22B	9554	broad.mit.edu	37	chr1	145103956	145103956	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcaggctaagtaactctttCgaaagttgaatgaacagtcc	9	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:145103956C>T	uc001eml.1	+	4	264	c.124C>T	c.(124-126)CGA>TGA	p.R42*	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B	42	Longin.|Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding				0						GTAACTCTTTCGAAAGTTGAA	0.388													T	145103956	C	T	145103956	4	4	104	1	0	0	0	0	0	1	0	0	13989	876	31	1	130	1	SEC22B	1	145103956	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	28940	145103956	104146665	372	66986											
HFE2	148738	broad.mit.edu	37	chr1	145415691	145415691	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcttgcattgcgcttccttCggggacccccatgtgcgcag	11	14	1	0	rs139281553	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:145415691C>T	uc001eni.2	+	3	835	c.510C>T	c.(508-510)TTC>TTT	p.F170F	NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Intron|HFE2_uc001enk.2_Silent_p.F57F|HFE2_uc001enl.2_Intron	NM_213653	NP_998818	Q6ZVN8	RGMC_HUMAN	hemojuvelin isoform a precursor	170			F -> S (in HFE2A).		axon guidance	anchored to membrane				ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGCTTCCTTCGGGGACCCCC	0.612													T	145415691	C	T	145415691	2	4	104	1	0	0	0	0	0	0	0	1	7082	883	31	1		1	HFE2	1	145415691	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	311735	145415691	103834930	373	66987											
HFE2	148738	broad.mit.edu	37	chr1	145416773	145416773	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttctggtgatcccaactTtaccgtggcagctcaggcag	10	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:145416773T>G	uc001eni.2	+	4	1443	c.1118T>G	c.(1117-1119)TTT>TGT	p.F373C	NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Missense_Mutation_p.F147C|HFE2_uc001enk.2_Missense_Mutation_p.F260C|HFE2_uc001enl.2_Missense_Mutation_p.F147C	NM_213653	NP_998818	Q6ZVN8	RGMC_HUMAN	hemojuvelin isoform a precursor	373					axon guidance	anchored to membrane				ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GATCCCAACTTTACCGTGGCA	0.517													G	145416773	T	G	145416773	3	3	104	1	0	0	0	0	1	0	0	0	7082	1841	64	5	1128	5	HFE2	1	145416773	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1082	145416773	103833848	374	66988											
FMO5	2330	broad.mit.edu	37	chr1	146672742	146672742	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggtcacttacctttaaatAcctgagtggcccagcgtcct	8	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:146672742A>G	uc001epi.2	-	7	1564	c.1175T>C	c.(1174-1176)GTA>GCA	p.V392A	FMO5_uc001eph.3_Missense_Mutation_p.V392A|FMO5_uc001epj.2_Intron	NM_001461	NP_001452	P49326	FMO5_HUMAN	flavin containing monooxygenase 5 isoform 1	392						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			ovary(3)	3	all_hematologic(923;0.0487)					ACCTTTAAATACCTGAGTGGC	0.393													G	146672742	A	G	146672742	3	3	104	1	0	0	0	0	1	0	0	0	5958	391	14	3	581	3	FMO5	1	146672742	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1255969	146672742	102577879	375	66989											
FMO5	2330	broad.mit.edu	37	chr1	146683979	146683979	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgcttggctgtttggctAatctctacagccagatcccc	8	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:146683979A>G	uc001epi.2	-	5	1001	c.612T>C	c.(610-612)ATT>ATC	p.I204I	FMO5_uc001eph.3_Silent_p.I204I|FMO5_uc001epj.2_Silent_p.I204I|FMO5_uc001epk.3_Silent_p.I204I	NM_001461	NP_001452	P49326	FMO5_HUMAN	flavin containing monooxygenase 5 isoform 1	204						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			ovary(3)	3	all_hematologic(923;0.0487)					CTGTTTGGCTAATCTCTACAG	0.443													G	146683979	A	G	146683979	2	3	104	1	0	0	0	0	0	0	0	1	5958	358	13	3		3	FMO5	1	146683979	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	11237	146683979	102566642	376	66990											
BCL9	607	broad.mit.edu	37	chr1	147091096	147091096	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgctttttcctgatgagaaaGaattcacaggagcacaaagt	9	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:147091096G>T	uc001epq.2	+	8	1875	c.1135G>T	c.(1135-1137)GAA>TAA	p.E379*	BCL9_uc010ozr.1_Nonsense_Mutation_p.E305*	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	379	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					TGATGAGAAAGAATTCACAGG	0.527			T	IGH@|IGL@	B-ALL								T	147091096	G	T	147091096	4	4	104	1	0	0	0	0	0	1	0	0	1381	943	33	5	1153	5	BCL9	1	147091096	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	407117	147091096	102159525	377	66991											
SV2A	9900	broad.mit.edu	37	chr1	149879607	149879607	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacatacttgtcattgaagtActgcccgcctcggtggatct	9	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:149879607A>G	uc001etg.2	-	9	2022	c.1531T>C	c.(1531-1533)TAC>CAC	p.Y511H	SV2A_uc009wlk.2_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.Y511H	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	511	Extracellular (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TCATTGAAGTACTGCCCGCCT	0.478													G	149879607	A	G	149879607	3	3	104	1	0	0	0	0	1	0	0	0	15414	391	14	3	717	3	SV2A	1	149879607	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2788511	149879607	99371014	378	66992											
PLEKHO1	51177	broad.mit.edu	37	chr1	150128372	150128372	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatcatagcaagtttactcTtgcccactccaaacagcccg	5	14	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:150128372T>G	uc001ett.2	+	3	568	c.290T>G	c.(289-291)CTT>CGT	p.L97R	PLEKHO1_uc001etr.2_5'UTR|PLEKHO1_uc001ets.2_5'UTR|PLEKHO1_uc001etu.2_5'UTR	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O	97	PH.					cytoplasm|nucleus|plasma membrane				lung(1)	1	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAGTTTACTCTTGCCCACTCC	0.502													G	150128372	T	G	150128372	3	3	104	1	0	0	0	0	1	0	0	0	12084	1609	56	5	300	5	PLEKHO1	1	150128372	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	248765	150128372	99122249	379	66993											
ANP32E	81611	broad.mit.edu	37	chr1	150204192	150204192	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catactcagaaattctagttCtttgaaagtatcattcaggc	6	8	5	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:150204192C>A	uc001etw.2	-	2	497	c.127G>T	c.(127-129)GAA>TAA	p.E43*	ANP32E_uc010pbu.1_5'UTR|ANP32E_uc010pbv.1_Nonsense_Mutation_p.E43*|ANP32E_uc001etv.3_Nonsense_Mutation_p.E43*|ANP32E_uc010pbw.1_Nonsense_Mutation_p.E43*	NM_030920	NP_112182	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32	43	LRR 2.					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity				0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AATTCTAGTTCTTTGAAAGTA	0.398													A	150204192	C	A	150204192	4	1	104	1	0	0	0	0	0	1	0	0	709	922	32	5	703	5	ANP32E	1	150204192	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	75820	150204192	99046429	380	66994											
ECM1	1893	broad.mit.edu	37	chr1	150485203	150485203	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttcacaccaacatagtaAacatattcctgggctgatcc	5	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:150485203A>C	uc001eus.2	+	9	1506	c.1307A>C	c.(1306-1308)AAA>ACA	p.K436T	ECM1_uc001eut.2_Missense_Mutation_p.K311T|ECM1_uc001euu.2_Missense_Mutation_p.K465T|ECM1_uc001euv.2_Missense_Mutation_p.K463T|ECM1_uc009wlu.2_Missense_Mutation_p.K196T	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	436					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CAACATAGTAAACATATTCCT	0.517													C	150485203	A	C	150485203	3	2	104	1	0	0	0	0	1	0	0	0	4897	14	1	5	1341	5	ECM1	1	150485203	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	281011	150485203	98765418	381	66995											
ARNT	405	broad.mit.edu	37	chr1	150784538	150784538	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catagttagatcagggaattCttcattgttgtagctgttgc	10	6	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:150784538C>A	uc001evr.1	-	22	2472	c.2329G>T	c.(2329-2331)GAA>TAA	p.E777*	ARNT_uc010pck.1_Nonsense_Mutation_p.E265*|ARNT_uc001evs.1_Nonsense_Mutation_p.E762*|ARNT_uc009wmb.1_Nonsense_Mutation_p.E763*|ARNT_uc009wmc.1_Nonsense_Mutation_p.E775*|ARNT_uc009wmd.1_Nonsense_Mutation_p.E761*	NM_001668	NP_001659	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	777					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			skin(4)|lung(3)|central_nervous_system(1)|kidney(1)	9	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCAGGGAATTCTTCATTGTTG	0.403			T	ETV6	AML								A	150784538	C	A	150784538	4	1	104	1	0	0	0	0	0	1	0	0	965	922	32	5	44	5	ARNT	1	150784538	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	299335	150784538	98466083	382	66996											
SETDB1	9869	broad.mit.edu	37	chr1	150902487	150902487	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaggacttctactccaAgctgggactacaataccggg	12	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:150902487A>C	uc001evu.2	+	3	495	c.305A>C	c.(304-306)AAG>ACG	p.K102T	SETDB1_uc009wmf.2_Missense_Mutation_p.K102T|SETDB1_uc001evv.2_Missense_Mutation_p.K102T|SETDB1_uc001evw.3_Missense_Mutation_p.K102T|SETDB1_uc009wmg.1_Missense_Mutation_p.K102T	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTCTACTCCAAGCTGGGACTA	0.428													C	150902487	A	C	150902487	3	2	104	1	0	0	0	0	1	0	0	0	14138	72	3	5	311	5	SETDB1	1	150902487	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	117949	150902487	98348134	383	66997											
SETDB1	9869	broad.mit.edu	37	chr1	150915523	150915523	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaccaaacgtcaaaaacaAgctcaggtacctggacagag	9	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:150915523A>C	uc001evu.2	+	7	1059	c.869A>C	c.(868-870)AAG>ACG	p.K290T	SETDB1_uc009wmf.2_Missense_Mutation_p.K290T|SETDB1_uc001evv.2_Missense_Mutation_p.K290T|SETDB1_uc001evw.3_Missense_Mutation_p.K290T|SETDB1_uc009wmg.1_Missense_Mutation_p.K290T	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	290	Tudor 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTCAAAAACAAGCTCAGGTAC	0.512													C	150915523	A	C	150915523	3	2	104	1	0	0	0	0	1	0	0	0	14138	72	3	5	891	5	SETDB1	1	150915523	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	13036	150915523	98335098	384	66998											
LASS2	29956	broad.mit.edu	37	chr1	150941396	150941396	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggctggcatgcttacagCtcaaagaagtatcgaacgat	11	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:150941396C>T	uc001evy.2	-	2	558	c.171G>A	c.(169-171)GAG>GAA	p.E57E	LASS2_uc001evz.2_Silent_p.E57E|LASS2_uc009wmh.2_Intron	NM_181746	NP_859530	Q96G23	CERS2_HUMAN	LAG1 longevity assurance 2	57	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity				0	all_lung(15;8.07e-35)|Lung NSC(24;7.93e-31)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATGCTTACAGCTCAAAGAAGT	0.498													T	150941396	C	T	150941396	2	4	104	1	0	0	0	0	0	0	0	1	8639	796	28	2		2	LASS2	1	150941396	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	25873	150941396	98309225	385	66999											
FAM63A	55793	broad.mit.edu	37	chr1	150975200	150975200	+	Translation_Start_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacctgtccaataagaaggaAatcagtgggctggaaagcaa	12	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:150975200A>C	uc001ewf.2	-	3	1578	c.-106T>G	c.(-108--104)ATTTC>ATGTC		FAM63A_uc001ewc.2_Intron|FAM63A_uc010pcm.1_Intron|FAM63A_uc001ewd.2_Intron|FAM63A_uc001ewe.2_Intron|FAM63A_uc010pcn.1_Intron|FAM63A_uc001ewg.2_Translation_Start_Site	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	hypothetical protein LOC55793 isoform 1								protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATAAGAAGGAAATCAGTGGGC	0.488													C	150975200	A	C	150975200	1	2	104	1	0	0	0	0	0	0	0	0	5596	29	1	5		5	FAM63A	1	150975200	Translation_Start_Site	SNP	A	TCGA-BR-8680-01A-11D-2394-08	33804	150975200	98275421	386	67000											
ZNF687	57592	broad.mit.edu	37	chr1	151260153	151260153	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagggctggggactgggggAcagaaggtgaatggtgcctc	20	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:151260153A>C	uc001exq.2	+	2	1484	c.1386A>C	c.(1384-1386)GGA>GGC	p.G462G	ZNF687_uc001exp.1_Silent_p.G471G|ZNF687_uc009wmo.2_Silent_p.G462G|ZNF687_uc009wmp.2_Silent_p.G462G	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGACTGGGGGACAGAAGGTGA	0.612													C	151260153	A	C	151260153	2	2	104	1	0	0	0	0	0	0	0	1	18089	262	10	5		5	ZNF687	1	151260153	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	284953	151260153	97990468	387	67001											
ZNF687	57592	broad.mit.edu	37	chr1	151260430	151260430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcacggcactatgaccgtCggagcatgcgcatcgaggtc	14	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:151260430C>T	uc001exq.2	+	2	1761	c.1663C>T	c.(1663-1665)CGG>TGG	p.R555W	ZNF687_uc001exp.1_Missense_Mutation_p.R564W|ZNF687_uc009wmo.2_Missense_Mutation_p.R555W|ZNF687_uc009wmp.2_Missense_Mutation_p.R555W	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTATGACCGTCGGAGCATGCG	0.627													T	151260430	C	T	151260430	3	4	104	1	0	0	0	0	1	0	0	0	18089	875	31	1	1665	1	ZNF687	1	151260430	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	277	151260430	97990191	388	67002											
RFX5	5993	broad.mit.edu	37	chr1	151315152	151315152	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttgctgtatcctctataTcctgctttgctgctttagct	6	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:151315152T>C	uc001exv.1	-	11	1575	c.1361A>G	c.(1360-1362)GAT>GGT	p.D454G	RFX5_uc001exw.1_Missense_Mutation_p.D454G|RFX5_uc009wmr.1_Missense_Mutation_p.D454G|RFX5_uc010pcx.1_Missense_Mutation_p.D414G	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	454						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATCCTCTATATCCTGCTTTGC	0.532													C	151315152	T	C	151315152	3	2	104	1	0	0	0	0	1	0	0	0	13266	1435	50	3	493	3	RFX5	1	151315152	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	54722	151315152	97935469	389	67003											
SELENBP1	8991	broad.mit.edu	37	chr1	151338253	151338253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taggcactcacctggcatttCgggcagcagccagcccttca	10	15	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:151338253C>T	uc001exx.2	-	8	960	c.913G>A	c.(913-915)GAA>AAA	p.E305K	SELENBP1_uc010pcy.1_Missense_Mutation_p.E347K|SELENBP1_uc001exy.2_Missense_Mutation_p.E202K|SELENBP1_uc001exz.2_Missense_Mutation_p.E202K|SELENBP1_uc010pcz.1_Missense_Mutation_p.E243K|SELENBP1_uc009wms.2_Missense_Mutation_p.E141K|SELENBP1_uc009wmt.2_Missense_Mutation_p.E202K|SELENBP1_uc001eya.2_Missense_Mutation_p.E241K|SELENBP1_uc009wmu.2_Missense_Mutation_p.E202K	NM_003944	NP_003935	Q13228	SBP1_HUMAN	selenium binding protein 1	305				EM -> GV (in Ref. 1; AAB02395).	protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding				0	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCTGGCATTTCGGGCAGCAGC	0.567													T	151338253	C	T	151338253	3	4	104	1	0	0	0	0	1	0	0	0	14014	893	31	1	525	1	SELENBP1	1	151338253	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	23101	151338253	97912368	390	67004											
PSMB4	5692	broad.mit.edu	37	chr1	151372650	151372650	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccagtatttgaagcaagttCtcggccagatggtgtaagtc	11	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:151372650C>A	uc001eyc.1	+	2	357	c.334C>A	c.(334-336)CTC>ATC	p.L112I	PSMB4_uc010pda.1_Missense_Mutation_p.L112I|PSMB4_uc001eyb.1_Missense_Mutation_p.L112I	NM_002796	NP_002787	P28070	PSB4_HUMAN	proteasome beta 4 subunit	112					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			ovary(2)	2	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAAGCAAGTTCTCGGCCAGAT	0.517													A	151372650	C	A	151372650	3	1	104	1	0	0	0	0	1	0	0	0	12679	913	32	5	340	5	PSMB4	1	151372650	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	34397	151372650	97877971	391	67005											
POGZ	23126	broad.mit.edu	37	chr1	151378310	151378310	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgcacagcccactcataggaGatcttaaaccccccttccaa	5	17	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:151378310G>T	uc001eyd.1	-	19	3507	c.3201C>A	c.(3199-3201)ATC>ATA	p.I1067I	POGZ_uc001eye.1_Silent_p.I1014I|POGZ_uc010pdb.1_Silent_p.I1058I|POGZ_uc001eyf.1_Silent_p.I1023I|POGZ_uc010pdc.1_Silent_p.I1005I|POGZ_uc009wmv.1_Silent_p.I972I|POGZ_uc010pdd.1_Silent_p.I558I	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1067	HTH CENPB-type.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACTCATAGGAGATCTTAAACC	0.552													T	151378310	G	T	151378310	2	4	104	1	0	0	0	0	0	0	0	1	12186	932	33	5		5	POGZ	1	151378310	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5660	151378310	97872311	392	67006											
CGN	57530	broad.mit.edu	37	chr1	151492667	151492667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcaactccagacctccttcGagaccagcaggaggcagccc	9	16	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:151492667G>A	uc009wmw.2	+	3	1043	c.899G>A	c.(898-900)CGA>CAA	p.R300Q		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	294	Interacts with ZO-2.|Head.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GACCTCCTTCGAGACCAGCAG	0.453													A	151492667	G	A	151492667	3	1	104	1	0	0	0	0	1	0	0	0	3303	1058	37	1	905	1	CGN	1	151492667	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	114357	151492667	97757954	393	67007											
CELF3	11189	broad.mit.edu	37	chr1	151688369	151688369	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacccttgtgcagcccggtgTacttgtccttgatgacagtc	10	13	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:151688369T>C	uc001eys.1	-	1	922	c.128A>G	c.(127-129)TAC>TGC	p.Y43C	CELF3_uc001eyr.2_Missense_Mutation_p.Y43C|CELF3_uc009wmy.2_Missense_Mutation_p.Y43C|CELF3_uc009wmx.1_Missense_Mutation_p.Y43C|CELF3_uc001eyt.2_5'UTR|CELF3_uc010pdi.1_Missense_Mutation_p.Y43C|C1orf230_uc001eyu.2_Intron	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN	trinucleotide repeat containing 4	43	RRM 1.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			ovary(1)|central_nervous_system(1)	2						CAGCCCGGTGTACTTGTCCTT	0.607													C	151688369	T	C	151688369	3	2	104	1	0	0	0	0	1	0	0	0	3217	1638	57	3	1325	3	CELF3	1	151688369	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	195702	151688369	97562252	394	67008											
TCHHL1	126637	broad.mit.edu	37	chr1	152057614	152057614	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcttggctgtagttgaaaaaGacagaacaatctgagatctc	10	7	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:152057614G>T	uc001ezo.1	-	3	2609	c.2544C>A	c.(2542-2544)GTC>GTA	p.V848V		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	848							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGTTGAAAAAGACAGAACAAT	0.507													T	152057614	G	T	152057614	2	4	104	1	0	0	0	0	0	0	0	1	15698	929	33	5		5	TCHHL1	1	152057614	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	369245	152057614	97193007	395	67009											
TCHHL1	126637	broad.mit.edu	37	chr1	152060019	152060019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagcatgaaggacacaggGctgcatgaaaacacagtgag	12	9	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:152060019G>A	uc001ezo.1	-	3	204	c.139C>T	c.(139-141)CCC>TCC	p.P47S		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	47							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGGACACAGGGCTGCATGAAA	0.373													A	152060019	G	A	152060019	3	1	104	1	0	0	0	0	1	0	0	0	15698	1217	42	2	2579	2	TCHHL1	1	152060019	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2405	152060019	97190602	396	67010											
HRNR	388697	broad.mit.edu	37	chr1	152185824	152185824	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagatccagccccatgtcGgccatagccagaagactgac	10	15	0	4	rs137986007	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:152185824G>A	uc001ezt.1	-	3	8357	c.8281C>T	c.(8281-8283)CGA>TGA	p.R2761*		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2761	30.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCCCATGTCGGCCATAGCCA	0.597													A	152185824	G	A	152185824	4	1	104	1	0	0	0	0	0	1	0	0	7359	1124	39	1	275	1	HRNR	1	152185824	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	125805	152185824	97064797	397	67011											
HRNR	388697	broad.mit.edu	37	chr1	152188414	152188414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctagagccgtgttgttcGtagctggaggagtgacctga	15	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:152188414G>A	uc001ezt.1	-	3	5767	c.5691C>T	c.(5689-5691)TAC>TAT	p.Y1897Y		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1897	21.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGTTGTTCGTAGCTGGAGG	0.537													A	152188414	G	A	152188414	2	1	104	1	0	0	0	0	0	0	0	1	7359	1140	40	1		1	HRNR	1	152188414	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2590	152188414	97062207	398	67012											
FLG	2312	broad.mit.edu	37	chr1	152275925	152275925	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactgttcctcattacgtgTttctctgcttgcacttctgg	8	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:152275925T>C	uc001ezu.1	-	3	11473	c.11437A>G	c.(11437-11439)ACA>GCA	p.T3813A		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3813	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATTACGTGTTTCTCTGCTT	0.572									Ichthyosis				C	152275925	T	C	152275925	3	2	104	1	0	0	0	0	1	0	0	0	5922	1725	60	3	752	3	FLG	1	152275925	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	87511	152275925	96974696	399	67013											
FLG	2312	broad.mit.edu	37	chr1	152279605	152279605	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catgatggtttctggaagcaGacccagaccacctctcagag	10	12	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:152279605G>A	uc001ezu.1	-	3	7793	c.7757C>T	c.(7756-7758)TCT>TTT	p.S2586F		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2586	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGGAAGCAGACCCAGACCA	0.552									Ichthyosis				A	152279605	G	A	152279605	3	1	104	1	0	0	0	0	1	0	0	0	5922	942	33	4	4432	4	FLG	1	152279605	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3680	152279605	96971016	400	67014											
FLG	2312	broad.mit.edu	37	chr1	152285754	152285754	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgagtgtccagacctattTaccgattgctcgtggtggga	12	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:152285754T>C	uc001ezu.1	-	3	1644	c.1608A>G	c.(1606-1608)GTA>GTG	p.V536V	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	536	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGACCTATTTACCGATTGCT	0.587									Ichthyosis				C	152285754	T	C	152285754	2	2	104	1	0	0	0	0	0	0	0	1	5922	1741	61	3		3	FLG	1	152285754	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	6149	152285754	96964867	401	67015											
FLG	2312	broad.mit.edu	37	chr1	152286132	152286132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccccggtgtccacgatcGctgactgcagatgaagcttg	12	13	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:152286132G>A	uc001ezu.1	-	3	1266	c.1230C>T	c.(1228-1230)AGC>AGT	p.S410S	uc001ezv.2_RNA	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	410	Ser-rich.|Filaggrin 2.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCACGATCGCTGACTGCAG	0.577									Ichthyosis				A	152286132	G	A	152286132	2	1	104	1	0	0	0	0	0	0	0	1	5922	1078	38	1		1	FLG	1	152286132	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	378	152286132	96964489	402	67016											
FLG	2312	broad.mit.edu	37	chr1	152286754	152286754	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtcttctttctcttcaagtCtttcacttagcctcttccta	3	13	7	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:152286754C>A	uc001ezu.1	-	3	644	c.608G>T	c.(607-609)AGA>ATA	p.R203I	uc001ezv.2_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	203	Potential.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTTCAAGTCTTTCACTTAG	0.323									Ichthyosis				A	152286754	C	A	152286754	3	1	104	1	0	0	0	0	1	0	0	0	5922	913	32	5	11581	5	FLG	1	152286754	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	622	152286754	96963867	403	67017											
CRNN	49860	broad.mit.edu	37	chr1	152382288	152382288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccttctgtcacacagcGccttgggtgagtgctgctcc	11	15	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:152382288G>A	uc001ezx.2	-	3	1344	c.1270C>T	c.(1270-1272)CGC>TGC	p.R424C		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	424					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCACACAGCGCCTTGGGTGA	0.602													A	152382288	G	A	152382288	3	1	104	1	0	0	0	0	1	0	0	0	3892	1087	38	1	221	1	CRNN	1	152382288	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	95534	152382288	96868333	404	67018											
KPRP	448834	broad.mit.edu	37	chr1	152732460	152732460	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caacctgttcagacttgcttCgtagaatgtgctccagtttg	9	10	1	2	rs146826460	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:152732460C>T	uc001fal.1	+	2	454	c.396C>T	c.(394-396)TTC>TTT	p.F132F		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	132	Gln-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACTTGCTTCGTAGAATGTG	0.478													T	152732460	C	T	152732460	2	4	104	1	0	0	0	0	0	0	0	1	8436	883	31	1		1	KPRP	1	152732460	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	350172	152732460	96518161	405	67019											
LCE1B	353132	broad.mit.edu	37	chr1	152784956	152784956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaccagcagcagtgccagCcccctcccaagtgcatcccc	8	19	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:152784956C>T	uc001faq.2	+	1	510	c.34C>T	c.(34-36)CCC>TCC	p.P12S		NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	12	Pro-rich.				keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGTGCCAGCCccctcccaa	0.483													T	152784956	C	T	152784956	3	4	104	1	0	0	0	0	1	0	0	0	8660	739	26	2	36	2	LCE1B	1	152784956	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	52496	152784956	96465665	406	67020											
SMCP	4184	broad.mit.edu	37	chr1	152856943	152856943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgctgcccagcaaaaggCaatcaatgctgcccaccaca	7	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:152856943C>T	uc001fat.2	+	2	190	c.45C>T	c.(43-45)GGC>GGT	p.G15G		NM_030663	NP_109588	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich	15	2.|7 X 7 (OR 8) AA approximate repeats.				penetration of zona pellucida|sperm motility	mitochondrial membrane					0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGCAAAAGGCAATCAATGCT	0.458													T	152856943	C	T	152856943	2	4	104	1	0	0	0	0	0	0	0	1	14789	697	25	2		2	SMCP	1	152856943	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	71987	152856943	96393678	407	67021											
SPRR3	6707	broad.mit.edu	37	chr1	152975767	152975767	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtccctgagccaggctgtAccaaggtccctgagccaggt	13	13	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:152975767A>G	uc001fax.3	+	3	421	c.271A>G	c.(271-273)ACC>GCC	p.T91A	SPRR3_uc001faz.3_Missense_Mutation_p.T91A|SPRR3_uc001fay.2_Missense_Mutation_p.T83A	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	91	7.|14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			skin(1)	1	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCAGGCTGTACCAAGGTCCC	0.592													G	152975767	A	G	152975767	3	3	104	1	0	0	0	0	1	0	0	0	15102	391	14	3	273	3	SPRR3	1	152975767	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	118824	152975767	96274854	408	67022											
SPRR2A	6700	broad.mit.edu	37	chr1	153029005	153029005	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaagctgttacttgctcttCggtggatactttgactggca	11	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:153029005C>T	uc001fbd.2	-	2	268	c.207G>A	c.(205-207)CCG>CCA	p.P69P	SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_RNA|SPRR2A_uc009woa.2_RNA	NM_005988	NP_005979	P35326	SPR2A_HUMAN	small proline-rich protein 2A	69					keratinization	cornified envelope|cytoplasm	binding			ovary(1)	1	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTGCTCTTCGGTGGATACT	0.517													T	153029005	C	T	153029005	2	4	104	1	0	0	0	0	0	0	0	1	15096	871	31	1		1	SPRR2A	1	153029005	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	53238	153029005	96221616	409	67023											
PGLYRP4	57115	broad.mit.edu	37	chr1	153314133	153314133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtcttctgccgaggggCcaggcagttctcgcctttcc	12	14	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:153314133C>T	uc001fbo.2	-	6	660	c.595G>A	c.(595-597)GCC>ACC	p.A199T	PGLYRP4_uc001fbp.2_Missense_Mutation_p.A195T	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein-I-beta	199					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)|skin(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCGAGGGGCCAGGCAGTTC	0.547													T	153314133	C	T	153314133	3	4	104	1	0	0	0	0	1	0	0	0	11796	739	26	2	542	2	PGLYRP4	1	153314133	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	285128	153314133	95936488	410	67024											
S100A7A	338324	broad.mit.edu	37	chr1	153391694	153391694	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggataagaagattgattTttctgagtttctgtccttgc	10	5	2	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:153391694T>G	uc001fbt.1	+	3	272	c.215T>G	c.(214-216)TTT>TGT	p.F72C		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7-like 1	72	2; high affinity (Potential).|EF-hand 2.					cytoplasm	calcium ion binding			skin(1)	1	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAGATTGATTTTTCTGAGTTT	0.478													G	153391694	T	G	153391694	3	3	104	1	0	0	0	0	1	0	0	0	13784	1841	64	5	221	5	S100A7A	1	153391694	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	77561	153391694	95858927	411	67025											
S100A7	6278	broad.mit.edu	37	chr1	153430395	153430395	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaatcttcttatcctcatTcttgtcctttttctcaaaga	2	11	6	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:153430395T>C	uc001fbv.1	-	3	264	c.193A>G	c.(193-195)AAT>GAT	p.N65D		NM_002963	NP_002954	P31151	S10A7_HUMAN	S100 calcium binding protein A7	65	2; high affinity.|EF-hand 2.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			skin(1)	1	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTATCCTCATTCTTGTCCTTT	0.423													C	153430395	T	C	153430395	3	2	104	1	0	0	0	0	1	0	0	0	13783	1783	62	3	116	3	S100A7	1	153430395	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	38701	153430395	95820226	412	67026											
ILF2	3608	broad.mit.edu	37	chr1	153638198	153638198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttccccagggcagcaacaGcttccactaattgacagaaa	8	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:153638198G>A	uc001fcr.2	-	7	482	c.401C>T	c.(400-402)GCT>GTT	p.A134V	ILF2_uc010pdy.1_Missense_Mutation_p.A96V|ILF2_uc009wok.2_Intron|ILF2_uc009wol.1_Missense_Mutation_p.A96V	NM_004515	NP_004506	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	134	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCAGCAACAGCTTCCACTAA	0.393													A	153638198	G	A	153638198	3	1	104	1	0	0	0	0	1	0	0	0	7711	971	34	2	803	2	ILF2	1	153638198	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	207803	153638198	95612423	413	67027											
NPR1	4881	broad.mit.edu	37	chr1	153662791	153662791	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctggagtggtgggactgaaGatgccccgttactgtctctt	14	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:153662791G>T	uc001fcs.3	+	20	3385	c.2964G>T	c.(2962-2964)AAG>AAT	p.K988N	NPR1_uc010pdz.1_Missense_Mutation_p.K734N|NPR1_uc010pea.1_Missense_Mutation_p.K466N	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	988	Guanylate cyclase.|Cytoplasmic (Potential).				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|stomach(1)|breast(1)	7	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TGGGACTGAAGATGCCCCGTT	0.577													T	153662791	G	T	153662791	3	4	104	1	0	0	0	0	1	0	0	0	10594	933	33	5	3042	5	NPR1	1	153662791	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	24593	153662791	95587830	414	67028											
INTS3	65123	broad.mit.edu	37	chr1	153719761	153719761	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctttcctttagttggtgTggttggtacgggaactggtg	14	7	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:153719761T>C	uc009wom.2	+	6	660	c.439T>C	c.(439-441)TGG>CGG	p.W147R	INTS3_uc001fct.2_Missense_Mutation_p.W147R|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	147					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTAGTTGGTGTGGTTGGTACG	0.448													C	153719761	T	C	153719761	3	2	104	1	0	0	0	0	1	0	0	0	7779	1696	59	3	457	3	INTS3	1	153719761	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	56970	153719761	95530860	415	67029											
DENND4B	9909	broad.mit.edu	37	chr1	153913426	153913426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagcaggtctggccgcagcGagtggactagcagcttgtgc	16	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:153913426G>A	uc001fdd.1	-	9	1681	c.1280C>T	c.(1279-1281)TCG>TTG	p.S427L		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	427	DENN.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGCCGCAGCGAGTGGACTAG	0.637													A	153913426	G	A	153913426	3	1	104	1	0	0	0	0	1	0	0	0	4434	1059	37	1	3290	1	DENND4B	1	153913426	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	193665	153913426	95337195	416	67030											
RPS27	6232	broad.mit.edu	37	chr1	153963678	153963678	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagccccaattcctacTtcatggatgtgaaatgccca	8	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:153963678T>G	uc001fdv.2	+	2	128	c.94T>G	c.(94-96)TTC>GTC	p.F32V		NM_001030	NP_001021	P42677	RS27_HUMAN	ribosomal protein S27	32					cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAATTCCTACTTCATGGATGT	0.502													G	153963678	T	G	153963678	3	3	104	1	0	0	0	0	1	0	0	0	13638	1609	56	5	100	5	RPS27	1	153963678	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	50252	153963678	95286943	417	67031											
NUP210L	91181	broad.mit.edu	37	chr1	154026819	154026819	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctattaacaacagccAcggtctgattactgatggag	8	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:154026819A>G	uc001fdw.2	-	25	3440	c.3368T>C	c.(3367-3369)GTG>GCG	p.V1123A	NUP210L_uc009woq.2_Missense_Mutation_p.V32A|NUP210L_uc010peh.1_Missense_Mutation_p.V1123A	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	1123						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AACAACAGCCACGGTCTGATT	0.463													G	154026819	A	G	154026819	3	3	104	1	0	0	0	0	1	0	0	0	10761	159	6	3	2362	3	NUP210L	1	154026819	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	63141	154026819	95223802	418	67032											
NUP210L	91181	broad.mit.edu	37	chr1	154112362	154112362	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaatcacatctccttgtttCtcctctttttccatctcagc	2	14	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:154112362C>A	uc001fdw.2	-	5	705	c.633G>T	c.(631-633)GAG>GAT	p.E211D	NUP210L_uc010peh.1_Missense_Mutation_p.E211D	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	211						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTCCTTGTTTCTCCTCTTTTT	0.353													A	154112362	C	A	154112362	3	1	104	1	0	0	0	0	1	0	0	0	10761	912	32	5	5177	5	NUP210L	1	154112362	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	85543	154112362	95138259	419	67033											
TPM3	7170	broad.mit.edu	37	chr1	154141803	154141803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggtcatgtcattgagggCgtggtccagctcctcgctaa	13	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:154141803C>T	uc001fec.1	-	9	947	c.832G>A	c.(832-834)GCC>ACC	p.A278T	TPM3_uc001fdx.1_Intron|TPM3_uc010pei.1_Intron|TPM3_uc001fdy.1_Intron|TPM3_uc001fdz.1_Intron|TPM3_uc001fea.1_Intron|TPM3_uc001feb.1_Intron|TPM3_uc010pej.1_Intron|TPM3_uc009wor.2_Intron|TPM3_uc001fed.1_Missense_Mutation_p.A241T	NM_152263	NP_689476	P06753	TPM3_HUMAN	tropomyosin 3 isoform 1	277	By similarity.				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/ALK(33)	haematopoietic_and_lymphoid_tissue(22)|soft_tissue(11)|skin(1)	34	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TCATTGAGGGCGTGGTCCAGC	0.532			T	NTRK1|ALK	papillary thyroid|ALCL								T	154141803	C	T	154141803	3	4	104	1	0	0	0	0	1	0	0	0	16404	768	27	1	204	1	TPM3	1	154141803	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	29441	154141803	95108818	420	67034											
TPM3	7170	broad.mit.edu	37	chr1	154163762	154163762	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccctttcagcttcttcTgcatggctgccagctcatcc	7	16	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:154163762T>G	uc001fec.1	-	2	258	c.143A>C	c.(142-144)CAG>CCG	p.Q48P		NM_152263	NP_689476	P06753	TPM3_HUMAN	tropomyosin 3 isoform 1	47	By similarity.				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/ALK(33)	haematopoietic_and_lymphoid_tissue(22)|soft_tissue(11)|skin(1)	34	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CAGCTTCTTCTGCATGGCTGC	0.517			T	NTRK1|ALK	papillary thyroid|ALCL								G	154163762	T	G	154163762	3	3	104	1	0	0	0	0	1	0	0	0	16404	1580	55	5	1137	5	TPM3	1	154163762	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	21959	154163762	95086859	421	67035											
UBAP2L	9898	broad.mit.edu	37	chr1	154228216	154228216	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatcttctgggcgcacttcGacatccactcttttggtaag	8	12	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:154228216G>A	uc001fep.3	+	18	2309	c.2142G>A	c.(2140-2142)TCG>TCA	p.S714S	UBAP2L_uc009wot.2_Silent_p.S714S|UBAP2L_uc010pek.1_Silent_p.S706S|UBAP2L_uc010pel.1_Silent_p.S724S|UBAP2L_uc010pen.1_Silent_p.S628S|UBAP2L_uc001feq.2_5'UTR|UBAP2L_uc001fer.2_5'Flank	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	714					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGCGCACTTCGACATCCACTC	0.433													A	154228216	G	A	154228216	2	1	104	1	0	0	0	0	0	0	0	1	16835	1045	37	1		1	UBAP2L	1	154228216	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	64454	154228216	95022405	422	67036											
ATP8B2	57198	broad.mit.edu	37	chr1	154315667	154315667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactttggttttgttttccGctctcgcacccccaaaacaa	6	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:154315667G>A	uc001fex.2	+	16	1631	c.1631G>A	c.(1630-1632)CGC>CAC	p.R544H		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	530	Cytoplasmic (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTTGTTTTCCGCTCTCGCACC	0.562													A	154315667	G	A	154315667	3	1	104	1	0	0	0	0	1	0	0	0	1195	1087	38	1	1823	1	ATP8B2	1	154315667	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	87451	154315667	94934954	423	67037											
TDRD10	126668	broad.mit.edu	37	chr1	154493951	154493951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccagcagcctcgggcccCgctggtatgtcttctggcct	12	15	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:154493951C>T	uc009wow.2	+	6	1203	c.365C>T	c.(364-366)CCG>CTG	p.P122L	TDRD10_uc001ffd.2_Missense_Mutation_p.P122L|TDRD10_uc001ffe.2_Missense_Mutation_p.P43L	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	tudor domain containing 10 isoform a	122							nucleotide binding|RNA binding			ovary(1)	1	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTCGGGCCCCGCTGGTATGT	0.527													T	154493951	C	T	154493951	3	4	104	1	0	0	0	0	1	0	0	0	15728	652	23	1	383	1	TDRD10	1	154493951	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	178284	154493951	94756670	424	67038											
TDRD10	126668	broad.mit.edu	37	chr1	154517377	154517377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcgcagcctagacagcgacGacttctggaccatcccaccc	9	17	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:154517377G>A	uc009wow.2	+	11	1742	c.904G>A	c.(904-906)GAC>AAC	p.D302N	TDRD10_uc001ffd.2_Missense_Mutation_p.D302N|TDRD10_uc001ffe.2_Missense_Mutation_p.D223N	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	tudor domain containing 10 isoform a	302	Tudor.						nucleotide binding|RNA binding			ovary(1)	1	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGACAGCGACGACTTCTGGAC	0.552													A	154517377	G	A	154517377	3	1	104	1	0	0	0	0	1	0	0	0	15728	1058	37	1	942	1	TDRD10	1	154517377	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	23426	154517377	94733244	425	67039											
CHRNB2	1141	broad.mit.edu	37	chr1	154543740	154543740	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcatcttctggctgccGcctgccatctacaagagcgc	11	15	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:154543740G>A	uc001ffg.2	+	5	705	c.441G>A	c.(439-441)CCG>CCA	p.P147P		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	147	Extracellular (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	TCTGGCTGCCGCCTGCCATCT	0.537													A	154543740	G	A	154543740	2	1	104	1	0	0	0	0	0	0	0	1	3391	1074	38	1		1	CHRNB2	1	154543740	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	26363	154543740	94706881	426	67040											
KCNN3	3782	broad.mit.edu	37	chr1	154685971	154685971	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagagtgttggcttggTcactcagcttcctctgttcc	9	14	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:154685971T>C	uc001ffp.2	-	7	2182	c.1868A>G	c.(1867-1869)GAC>GGC	p.D623G	KCNN3_uc001ffo.2_Missense_Mutation_p.D318G	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	628	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding			lung(1)	1	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GTTGGCTTGGTCACTCAGCTT	0.537													C	154685971	T	C	154685971	3	2	104	1	0	0	0	0	1	0	0	0	8080	1667	58	3	335	3	KCNN3	1	154685971	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	142231	154685971	94564650	427	67041											
KCNN3	3782	broad.mit.edu	37	chr1	154744733	154744733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtaggagaaggccaggCgtgccgtccagaagaacttg	16	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:154744733C>T	uc001ffp.2	-	3	1480	c.1166G>A	c.(1165-1167)CGC>CAC	p.R389H	KCNN3_uc001ffo.2_Missense_Mutation_p.R84H|KCNN3_uc009wox.1_Missense_Mutation_p.R389H	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	394						integral to membrane	calmodulin binding			lung(1)	1	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GAAGGCCAGGCGTGCCGTCCA	0.597													T	154744733	C	T	154744733	3	4	104	1	0	0	0	0	1	0	0	0	8080	768	27	1	1053	1	KCNN3	1	154744733	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	58762	154744733	94505888	428	67042											
FLAD1	80308	broad.mit.edu	37	chr1	154960706	154960706	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcagctgaggtcacttctttCtccaaccgcttcacccatgt	7	15	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:154960706C>A	uc001fgf.1	+	2	852	c.498C>A	c.(496-498)TTC>TTA	p.F166L	FLAD1_uc001fgc.2_Missense_Mutation_p.F67L|FLAD1_uc001fgd.1_Missense_Mutation_p.F166L|FLAD1_uc001fge.1_Missense_Mutation_p.F69L|FLAD1_uc001fgg.1_Missense_Mutation_p.F69L|FLAD1_uc001fgh.1_5'UTR	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase isoform	166	Molybdenum cofactor biosynthesis protein- like.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			ovary(2)|skin(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)			TCACTTCTTTCTCCAACCGCT	0.567													A	154960706	C	A	154960706	3	1	104	1	0	0	0	0	1	0	0	0	5920	912	32	5	579	5	FLAD1	1	154960706	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	215973	154960706	94289915	429	67043											
FAM189B	10712	broad.mit.edu	37	chr1	155223732	155223732	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actctggacagggccggaggAggggaacagagggacagcac	18	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:155223732A>G	uc001fjm.2	-	4	1037	c.431T>C	c.(430-432)CTC>CCC	p.L144P	RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_5'Flank|FAM189B_uc001fjn.2_Intron|FAM189B_uc001fjo.2_Missense_Mutation_p.L125P|FAM189B_uc001fjp.2_Intron|FAM189B_uc001fjq.1_Missense_Mutation_p.L144P	NM_006589	NP_006580	P81408	F189B_HUMAN	hypothetical protein LOC10712 isoform a	144						integral to membrane	WW domain binding			ovary(1)|breast(1)	2						GGGCCGGAGGAGGGGAACAGA	0.607													G	155223732	A	G	155223732	3	3	104	1	0	0	0	0	1	0	0	0	5517	304	11	3	1611	3	FAM189B	1	155223732	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	263026	155223732	94026889	430	67044											
FDPS	2224	broad.mit.edu	37	chr1	155288068	155288068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctattacctgaacctgatcGagctcttcctgcaggtgtat	8	12	1	2	rs139546057		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:155288068G>A	uc001fkc.2	+	6	889	c.670G>A	c.(670-672)GAG>AAG	p.E224K	RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.E158K|FDPS_uc001fke.2_Missense_Mutation_p.E224K|FDPS_uc001fkf.2_Missense_Mutation_p.E158K|C1orf104_uc001fkh.1_RNA|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank	NM_002004	NP_001995	P14324	FPPS_HUMAN	farnesyl diphosphate synthase isoform a	224					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding				0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	GAACCTGATCGAGCTCTTCCT	0.547													A	155288068	G	A	155288068	3	1	104	1	0	0	0	0	1	0	0	0	5803	1059	37	1	688	1	FDPS	1	155288068	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	64336	155288068	93962553	431	67045											
ASH1L	55870	broad.mit.edu	37	chr1	155319149	155319149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagactttgagcatgtcaGcatcaaaagcttccactgtc	8	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:155319149G>A	uc009wqq.2	-	19	8018	c.7538C>T	c.(7537-7539)GCT>GTT	p.A2513V	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.A2508V|MIR555_hsa-mir-555|MI0003561_5'Flank	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2513	Bromo.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GAGCATGTCAGCATCAAAAGC	0.368													A	155319149	G	A	155319149	3	1	104	1	0	0	0	0	1	0	0	0	1041	971	34	2	1411	2	ASH1L	1	155319149	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	31081	155319149	93931472	432	67046											
ASH1L	55870	broad.mit.edu	37	chr1	155448772	155448772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatccgaatttcacttaggcGacttattagttcctccagct	7	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:155448772G>A	uc009wqq.2	-	3	4369	c.3889C>T	c.(3889-3891)CGC>TGC	p.R1297C	ASH1L_uc001fkt.2_Missense_Mutation_p.R1297C|ASH1L_uc009wqr.1_Missense_Mutation_p.R1297C	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1297					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCACTTAGGCGACTTATTAGT	0.393													A	155448772	G	A	155448772	3	1	104	1	0	0	0	0	1	0	0	0	1041	1058	37	1	5109	1	ASH1L	1	155448772	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	129623	155448772	93801849	433	67047											
MEX3A	92312	broad.mit.edu	37	chr1	156047038	156047038	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcgttttcattgttgtacTcgaggatcttgccagtgcgc	11	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:156047038T>C	uc001fnd.3	-	2	890	c.890A>G	c.(889-891)GAG>GGG	p.E297G		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	297						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					ATTGTTGTACTCGAGGATCTT	0.662													C	156047038	T	C	156047038	3	2	104	1	0	0	0	0	1	0	0	0	9509	1551	54	3	676	3	MEX3A	1	156047038	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	598266	156047038	93203583	434	67048											
PAQR6	79957	broad.mit.edu	37	chr1	156214957	156214957	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaaagagtgggaggttgtcGaacaggaatggataggcgaa	16	3	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:156214957G>A	uc001fnu.1	-	6	655	c.585C>T	c.(583-585)TTC>TTT	p.F195F	PAQR6_uc010phf.1_Missense_Mutation_p.S62L|PAQR6_uc001fny.1_5'UTR|PAQR6_uc001fnv.1_Silent_p.F171F|PAQR6_uc010phg.1_Silent_p.F192F|PAQR6_uc001fnx.1_Silent_p.F89F|PAQR6_uc001fnw.1_Silent_p.F89F|PAQR6_uc001fnz.1_Silent_p.F89F|PAQR6_uc010phh.1_Silent_p.F195F|PAQR6_uc001foa.1_Silent_p.F89F|PAQR6_uc001fob.1_RNA	NM_198406	NP_940798	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	195	Cytoplasmic (Potential).					integral to membrane	receptor activity				0	Hepatocellular(266;0.158)					GGAGGTTGTCGAACAGGAATG	0.607													A	156214957	G	A	156214957	2	1	104	1	0	0	0	0	0	0	0	1	11439	1049	37	1		1	PAQR6	1	156214957	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	167919	156214957	93035664	435	67049											
C1orf85	112770	broad.mit.edu	37	chr1	156263158	156263158	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagggcctgtggaagccccGaacgtcagattgaaggcaca	13	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:156263158G>A	uc001foh.2	-	5	1021	c.1008C>T	c.(1006-1008)TTC>TTT	p.F336F	C1orf85_uc001fof.3_5'Flank|C1orf85_uc001fog.1_Intron|C1orf85_uc001foi.2_Silent_p.F287F|C1orf85_uc009wrx.2_Silent_p.F269F|C1orf85_uc001foj.2_Silent_p.F250F	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN	kidney predominant protein NCU-G1 precursor	336	Lumenal (Potential).				positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)	2	Hepatocellular(266;0.158)					TGGAAGCCCCGAACGTCAGAT	0.562													A	156263158	G	A	156263158	2	1	104	1	0	0	0	0	0	0	0	1	2062	1049	37	1		1	C1orf85	1	156263158	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	48201	156263158	92987463	436	67050											
CCT3	7203	broad.mit.edu	37	chr1	156279094	156279094	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgcagtagcagaactgccgTctaggagaaaaaccacagat	10	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:156279094T>C	uc001fol.1	-	14	1754	c.1534A>G	c.(1534-1536)ACG>GCG	p.T512A	CCT3_uc001fom.1_Missense_Mutation_p.T511A|CCT3_uc001fon.1_Missense_Mutation_p.T474A|CCT3_uc010phj.1_Missense_Mutation_p.T466A|CCT3_uc010phk.1_Missense_Mutation_p.T466A|CCT3_uc010phl.1_Missense_Mutation_p.T466A	NM_005998	NP_005989	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 isoform a	512					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					AGAACTGCCGTCTAGGAGAAA	0.493													C	156279094	T	C	156279094	3	2	104	1	0	0	0	0	1	0	0	0	2954	1681	58	3	107	3	CCT3	1	156279094	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	15936	156279094	92971527	437	67051											
RHBG	57127	broad.mit.edu	37	chr1	156339125	156339125	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagggcgccactgccgtcCtctttgctgtctttgtccgc	10	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:156339125C>A	uc010pho.1	+	1	123	c.85C>A	c.(85-87)CTC>ATC	p.L29I	RHBG_uc010phm.1_Missense_Mutation_p.L29I|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_5'UTR|RHBG_uc009wrz.2_5'UTR|RHBG_uc001for.2_5'UTR	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Rhesus blood group, B glycoprotein	29	Helical; (Potential).				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			ovary(2)	2	Hepatocellular(266;0.158)					CACTGCCGTCCTCTTTGCTGT	0.627													A	156339125	C	A	156339125	3	1	104	1	0	0	0	0	1	0	0	0	13324	681	24	5	87	5	RHBG	1	156339125	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	60031	156339125	92911496	438	67052											
C1orf61	10485	broad.mit.edu	37	chr1	156376906	156376906	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgccaagccaagagccaaaGagctggtgctatagccatat	10	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:156376906G>T	uc001fou.1	-	6	506	c.389C>A	c.(388-390)TCT>TAT	p.S130Y	C1orf61_uc001fot.1_3'UTR|C1orf61_uc001fov.1_Intron|C1orf61_uc001fow.1_Intron|C1orf61_uc001fox.1_Intron	NM_006365	NP_006356	Q13536	CROC4_HUMAN	transcriptional activator of the c-fos promoter	130						nucleus				skin(1)	1	Hepatocellular(266;0.158)					aagagccaaagagctggtgct	0.129													T	156376906	G	T	156376906	3	4	104	1	0	0	0	0	1	0	0	0	2052	942	33	5	89	5	C1orf61	1	156376906	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	37781	156376906	92873715	439	67053											
IQGAP3	128239	broad.mit.edu	37	chr1	156520055	156520055	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccaaccagtccatttacttCtctgagctgtattagtgtcc	6	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:156520055C>A	uc001fpf.2	-	16	1898	c.1823G>T	c.(1822-1824)AGA>ATA	p.R608I		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	608					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCATTTACTTCTCTGAGCTGT	0.592													A	156520055	C	A	156520055	3	1	104	1	0	0	0	0	1	0	0	0	7816	913	32	5	3164	5	IQGAP3	1	156520055	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	143149	156520055	92730566	440	67054											
IQGAP3	128239	broad.mit.edu	37	chr1	156533432	156533432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggccatatttggccagttCggacgccatgttgctgagtt	13	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:156533432C>T	uc001fpf.2	-	7	607	c.532G>A	c.(532-534)GAA>AAA	p.E178K	IQGAP3_uc009wsb.1_Missense_Mutation_p.E135K	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	178					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGGCCAGTTCGGACGCCATG	0.602													T	156533432	C	T	156533432	3	4	104	1	0	0	0	0	1	0	0	0	7816	893	31	1	4491	1	IQGAP3	1	156533432	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	13377	156533432	92717189	441	67055											
BCAN	63827	broad.mit.edu	37	chr1	156616856	156616856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtacccagcgtcgctcaccGacgtctccctggcgctgagc	11	18	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:156616856G>A	uc001fpp.2	+	3	691	c.355G>A	c.(355-357)GAC>AAC	p.D119N	BCAN_uc001fpo.2_Missense_Mutation_p.D119N	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	119	Ig-like V-type.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTCGCTCACCGACGTCTCCCT	0.672													A	156616856	G	A	156616856	3	1	104	1	0	0	0	0	1	0	0	0	1345	1058	37	1	361	1	BCAN	1	156616856	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	83424	156616856	92633765	442	67056											
BCAN	63827	broad.mit.edu	37	chr1	156616943	156616943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acggcatcgatgacagcagcGacgctgtggaggtcaaggtc	15	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:156616943G>A	uc001fpp.2	+	3	778	c.442G>A	c.(442-444)GAC>AAC	p.D148N	BCAN_uc001fpo.2_Missense_Mutation_p.D148N	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	148	Ig-like V-type.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGACAGCAGCGACGCTGTGGA	0.532													A	156616943	G	A	156616943	3	1	104	1	0	0	0	0	1	0	0	0	1345	1058	37	1	448	1	BCAN	1	156616943	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	87	156616943	92633678	443	67057											
BCAN	63827	broad.mit.edu	37	chr1	156627954	156627954	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccctgggcagcctgacagCtacttcctgtctggagagaa	11	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:156627954C>T	uc001fpp.2	+	12	2664	c.2328C>T	c.(2326-2328)AGC>AGT	p.S776S		NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	776	C-type lectin.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCCTGACAGCTACTTCCTGT	0.587											OREG0013880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	156627954	C	T	156627954	2	4	104	1	0	0	0	0	0	0	0	1	1345	796	28	2		2	BCAN	1	156627954	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	11011	156627954	92622667	444	67058											
NES	10763	broad.mit.edu	37	chr1	156641598	156641598	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttttcaagaggtctagctatCtcctggtcaagagacttcag	9	9	5	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:156641598C>A	uc001fpq.2	-	4	2515	c.2382G>T	c.(2380-2382)GAG>GAT	p.E794D		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	794	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTCTAGCTATCTCCTGGTCAA	0.428													A	156641598	C	A	156641598	3	1	104	1	0	0	0	0	1	0	0	0	10337	912	32	5	2487	5	NES	1	156641598	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	13644	156641598	92609023	445	67059											
C1orf66	51093	broad.mit.edu	37	chr1	156705540	156705540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgcagcgggggctacagcGagtggggctagatccccagc	17	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:156705540G>A	uc001fpu.2	+	7	1779	c.1145G>A	c.(1144-1146)CGA>CAA	p.R382Q	C1orf66_uc001fpv.2_Silent_p.A220A	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	hypothetical protein LOC51093 isoform 1	382						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGCTACAGCGAGTGGGGCTA	0.547													A	156705540	G	A	156705540	3	1	104	1	0	0	0	0	1	0	0	0	2056	1058	37	1	1171	1	C1orf66	1	156705540	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	63942	156705540	92545081	446	67060											
FCRL5	83416	broad.mit.edu	37	chr1	157514687	157514687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccttatatccagtacagcGatatgcaccattgtccttga	6	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:157514687G>A	uc001fqu.2	-	4	651	c.493C>T	c.(493-495)CGC>TGC	p.R165C	FCRL5_uc009wsm.2_Missense_Mutation_p.R165C|FCRL5_uc010phv.1_Missense_Mutation_p.R165C|FCRL5_uc010phw.1_Missense_Mutation_p.R80C|FCRL5_uc001fqv.1_Missense_Mutation_p.R165C|FCRL5_uc010phx.1_5'UTR	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	165	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCAGTACAGCGATATGCACCA	0.368													A	157514687	G	A	157514687	3	1	104	1	0	0	0	0	1	0	0	0	5798	1058	37	1	2496	1	FCRL5	1	157514687	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	809147	157514687	91735934	447	67061											
FCRL2	79368	broad.mit.edu	37	chr1	157719465	157719465	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcattagtggcagaactttCtcctgaaatgcaaataaaac	6	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:157719465C>A	uc001fre.2	-	8	1341	c.1282G>T	c.(1282-1284)GAA>TAA	p.E428*	FCRL2_uc001frd.2_Nonsense_Mutation_p.E175*|FCRL2_uc010phz.1_Nonsense_Mutation_p.E428*|FCRL2_uc009wsp.2_Nonsense_Mutation_p.E144*	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	428	Cytoplasmic (Potential).				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCAGAACTTTCTCCTGAAATG	0.328													A	157719465	C	A	157719465	4	1	104	1	0	0	0	0	0	1	0	0	5795	922	32	5	264	5	FCRL2	1	157719465	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	204778	157719465	91531156	448	67062											
FCRL2	79368	broad.mit.edu	37	chr1	157740375	157740375	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtaagccatcttctgaattTtccagttctgttctccctgg	8	11	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:157740375T>G	uc001fre.2	-	3	193	c.134A>C	c.(133-135)AAA>ACA	p.K45T	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.K45T|FCRL2_uc009wsp.2_Missense_Mutation_p.K45T|FCRL2_uc010pia.1_Missense_Mutation_p.K45T	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	45	Ig-like C2-type 1.|Extracellular (Potential).				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTTCTGAATTTTCCAGTTCTG	0.428													G	157740375	T	G	157740375	3	3	104	1	0	0	0	0	1	0	0	0	5795	1841	64	5	1432	5	FCRL2	1	157740375	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	20910	157740375	91510246	449	67063											
FCRL1	115350	broad.mit.edu	37	chr1	157767670	157767670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtctcacctgctactgattCctgctccggctggttatagt	9	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:157767670C>T	uc001frg.2	-	9	1287	c.1174G>A	c.(1174-1176)GAA>AAA	p.E392K	FCRL1_uc001frf.2_Intron|FCRL1_uc001frh.2_Missense_Mutation_p.E392K|FCRL1_uc001fri.2_Intron|FCRL1_uc001frj.2_RNA	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	392	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			skin(4)|ovary(3)	7	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCTACTGATTCCTGCTCCGGC	0.483													T	157767670	C	T	157767670	3	4	104	1	0	0	0	0	1	0	0	0	5794	864	30	4	193	4	FCRL1	1	157767670	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	27295	157767670	91482951	450	67064											
CD1D	912	broad.mit.edu	37	chr1	158151317	158151317	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcagctggacgcgcaccgAcggcttggcgtggctggggg	19	11	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:158151317A>G	uc001frr.2	+	3	633	c.134A>G	c.(133-135)GAC>GGC	p.D45G	CD1D_uc009wsr.1_Missense_Mutation_p.D45G|CD1D_uc009wss.2_Missense_Mutation_p.D45G|CD1D_uc009wst.1_5'UTR	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	45	Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			ovary(1)	1	all_hematologic(112;0.0378)					ACGCGCACCGACGGCTTGGCG	0.637													G	158151317	A	G	158151317	3	3	104	1	0	0	0	0	1	0	0	0	2977	275	10	3	140	3	CD1D	1	158151317	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	383647	158151317	91099304	451	67065											
CD1B	910	broad.mit.edu	37	chr1	158299693	158299693	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacgcccaagagatatcGggggcaggtttcatagagga	16	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:158299693G>A	uc001frx.2	-	3	664	c.556C>T	c.(556-558)CGA>TGA	p.R186*	CD1B_uc001frw.2_Nonsense_Mutation_p.R79*	NM_001764	NP_001755	P29016	CD1B_HUMAN	CD1B antigen precursor	186	Extracellular (Potential).|Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			ovary(2)	2	all_hematologic(112;0.0378)					AAGAGATATCGGGGGCAGGTT	0.463													A	158299693	G	A	158299693	4	1	104	1	0	0	0	0	0	1	0	0	2975	1124	39	1	461	1	CD1B	1	158299693	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	148376	158299693	90950928	452	67066											
OR6Y1	391112	broad.mit.edu	37	chr1	158517116	158517116	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacgggcataggtgaaaagTgtcatggaatagaagagaat	15	3	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:158517116T>G	uc010pil.1	-	1	780	c.780A>C	c.(778-780)ACA>ACC	p.T260T		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	260	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					AGGTGAAAAGTGTCATGGAAT	0.498													G	158517116	T	G	158517116	2	3	104	1	0	0	0	0	0	0	0	1	11213	1683	59	5		5	OR6Y1	1	158517116	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	217423	158517116	90733505	453	67067											
SPTA1	6708	broad.mit.edu	37	chr1	158592868	158592868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagcagagcggcataacGctcttcaatggctttagact	9	11	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:158592868G>A	uc001fst.1	-	43	6224	c.6025C>T	c.(6025-6027)CGT>TGT	p.R2009C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2009	Spectrin 19.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GCGGCATAACGCTCTTCAATG	0.502													A	158592868	G	A	158592868	3	1	104	1	0	0	0	0	1	0	0	0	15115	1087	38	1	1274	1	SPTA1	1	158592868	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	75752	158592868	90657753	454	67068											
SPTA1	6708	broad.mit.edu	37	chr1	158606495	158606495	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcttcttcagcaagttcTgaaccccctgaagatctctc	7	13	4	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:158606495T>G	uc001fst.1	-	37	5445	c.5246A>C	c.(5245-5247)CAG>CCG	p.Q1749P		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1749	Spectrin 17.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CAGCAAGTTCTGAACCCCCTG	0.428													G	158606495	T	G	158606495	3	3	104	1	0	0	0	0	1	0	0	0	15115	1580	55	5	2077	5	SPTA1	1	158606495	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	13627	158606495	90644126	455	67069											
SPTA1	6708	broad.mit.edu	37	chr1	158621249	158621249	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttagccgaggctcattggTattcaaatcctgaatgggaa	10	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:158621249T>C	uc001fst.1	-	24	3584	c.3385A>G	c.(3385-3387)ACC>GCC	p.T1129A		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1129	Spectrin 11.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GGCTCATTGGTATTCAAATCC	0.413													C	158621249	T	C	158621249	3	2	104	1	0	0	0	0	1	0	0	0	15115	1638	57	3	3990	3	SPTA1	1	158621249	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	14754	158621249	90629372	456	67070											
SPTA1	6708	broad.mit.edu	37	chr1	158623098	158623098	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggcgctgggtgatgtTtcctggctcttctcgtcgcc	12	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:158623098T>G	uc001fst.1	-	22	3353	c.3154A>C	c.(3154-3156)AAC>CAC	p.N1052H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1052					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TGGGTGATGTTTCCTGGCTCT	0.522													G	158623098	T	G	158623098	3	3	104	1	0	0	0	0	1	0	0	0	15115	1841	64	5	4229	5	SPTA1	1	158623098	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1849	158623098	90627523	457	67071											
SPTA1	6708	broad.mit.edu	37	chr1	158623119	158623119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggctcttctcgtcgccGctgtgggagcatcgggaact	13	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:158623119G>A	uc001fst.1	-	22	3332	c.3133C>T	c.(3133-3135)CGG>TGG	p.R1045W		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1045					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCTCGTCGCCGCTGTGGGAGC	0.542													A	158623119	G	A	158623119	3	1	104	1	0	0	0	0	1	0	0	0	15115	1086	38	1	4250	1	SPTA1	1	158623119	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	21	158623119	90627502	458	67072											
SPTA1	6708	broad.mit.edu	37	chr1	158639264	158639264	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctttaggtcatctgagtcCtcatacagtttttgcagaag	8	8	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:158639264C>A	uc001fst.1	-	14	1966	c.1767G>T	c.(1765-1767)GAG>GAT	p.E589D		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	589	Spectrin 7.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CATCTGAGTCCTCATACAGTT	0.453													A	158639264	C	A	158639264	3	1	104	1	0	0	0	0	1	0	0	0	15115	680	24	5	5648	5	SPTA1	1	158639264	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	16145	158639264	90611357	459	67073											
OR6K2	81448	broad.mit.edu	37	chr1	158669933	158669933	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatatgttcaaggtgattCgaaccacaaaatggcagtgt	10	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:158669933C>T	uc001fsu.1	-	1	510	c.510G>A	c.(508-510)TCG>TCA	p.S170S		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	170	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					CAAGGTGATTCGAACCACAAA	0.483													T	158669933	C	T	158669933	2	4	104	1	0	0	0	0	0	0	0	1	11202	871	31	1		1	OR6K2	1	158669933	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	30669	158669933	90580688	460	67074											
OR6K3	391114	broad.mit.edu	37	chr1	158687804	158687804	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcaatgataataaaagtataGatgaaaagtaaaggaaagaa	8	1	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:158687804G>T	uc010pip.1	-	1	150	c.150C>A	c.(148-150)ATC>ATA	p.I50I		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	50	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					TAAAAGTATAGATGAAAAGTA	0.373													T	158687804	G	T	158687804	2	4	104	1	0	0	0	0	0	0	0	1	11203	932	33	5		5	OR6K3	1	158687804	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	17871	158687804	90562817	461	67075											
OR6K6	128371	broad.mit.edu	37	chr1	158725631	158725631	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagagggctggttgggctggGaaatagatacagatcctgga	16	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:158725631G>A	uc001fsw.1	+	1	1026	c.1026G>A	c.(1024-1026)GGG>GGA	p.G342G		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	342	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					GTTGGGCTGGGAAATAGATAC	0.418													A	158725631	G	A	158725631	2	1	104	1	0	0	0	0	0	0	0	1	11204	1161	41	4		4	OR6K6	1	158725631	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	37827	158725631	90524990	462	67076											
OR6N2	81442	broad.mit.edu	37	chr1	158746725	158746725	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggtagaaaaggccttctttCttcctgatgctgtttttatc	8	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:158746725C>A	uc010pir.1	-	1	701	c.701G>T	c.(700-702)AGA>ATA	p.R234I		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	234	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)					GGCCTTCTTTCTTCCTGATGC	0.408													A	158746725	C	A	158746725	3	1	104	1	0	0	0	0	1	0	0	0	11207	913	32	5	255	5	OR6N2	1	158746725	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	21094	158746725	90503896	463	67077											
OR6N2	81442	broad.mit.edu	37	chr1	158746739	158746739	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttcttcctgatgctgtTtttatcttcagcacagcccc	5	13	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:158746739T>G	uc010pir.1	-	1	687	c.687A>C	c.(685-687)AAA>AAC	p.K229N		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)					CTGATGCTGTTTTTATCTTCA	0.408													G	158746739	T	G	158746739	3	3	104	1	0	0	0	0	1	0	0	0	11207	1838	64	5	269	5	OR6N2	1	158746739	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	14	158746739	90503882	464	67078											
MNDA	4332	broad.mit.edu	37	chr1	158815580	158815580	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcgacatcaacttgaaagaGaaatttgtaaggaagaaggt	10	4	1	3	rs144094005		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:158815580G>T	uc001fsz.1	+	5	974	c.774G>T	c.(772-774)GAG>GAT	p.E258D		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	258	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					ACTTGAAAGAGAAATTTGTAA	0.368													T	158815580	G	T	158815580	3	4	104	1	0	0	0	0	1	0	0	0	9676	933	33	5	788	5	MNDA	1	158815580	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	68841	158815580	90435041	465	67079											
MNDA	4332	broad.mit.edu	37	chr1	158817600	158817600	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggggagtggaaaatggcAcaatatcaagtgtgagaaag	15	3	1	1	rs111691948		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:158817600A>G	uc001fsz.1	+	6	1270	c.1070A>G	c.(1069-1071)CAC>CGC	p.H357R		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	357	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					GGAAAATGGCACAATATCAAG	0.413													G	158817600	A	G	158817600	3	3	104	1	0	0	0	0	1	0	0	0	9676	159	6	3	1088	3	MNDA	1	158817600	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2020	158817600	90433021	466	67080											
MNDA	4332	broad.mit.edu	37	chr1	158819009	158819009	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaagaaaaacaaggaaggAccaatgaatgttaattgaaa	9	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:158819009A>G	uc001fsz.1	+	7	1406	c.1206A>G	c.(1204-1206)GGA>GGG	p.G402G		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	402					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					ACAAGGAAGGACCAATGAATG	0.318													G	158819009	A	G	158819009	2	3	104	1	0	0	0	0	0	0	0	1	9676	262	10	3		3	MNDA	1	158819009	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1409	158819009	90431612	467	67081											
AIM2	9447	broad.mit.edu	37	chr1	159043205	159043205	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatattaaactcgtctgaaaGaaagaacttaaacctatcca	4	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:159043205G>T	uc001ftj.1	-	2	330	c.85C>A	c.(85-87)CTT>ATT	p.L29I		NM_004833	NP_004824	O14862	AIM2_HUMAN	absent in melanoma 2	29	DAPIN.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				ovary(2)|pancreas(1)	3	all_hematologic(112;0.0429)					TCGTCTGAAAGAAAGAACTTA	0.413													T	159043205	G	T	159043205	3	4	104	1	0	0	0	0	1	0	0	0	432	942	33	5	966	5	AIM2	1	159043205	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	224196	159043205	90207416	468	67082											
CADM3	57863	broad.mit.edu	37	chr1	159162412	159162412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggttacctctacgccccacGagctcagcatcagcatcagc	8	16	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:159162412G>A	uc001ftl.2	+	3	416	c.274G>A	c.(274-276)GAG>AAG	p.E92K	CADM3_uc009wsx.1_Missense_Mutation_p.E126K|CADM3_uc009wsy.1_Missense_Mutation_p.E92K|CADM3_uc001ftk.2_Missense_Mutation_p.E126K	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	92	Ig-like V-type.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					TACGCCCCACGAGCTCAGCAT	0.517													A	159162412	G	A	159162412	3	1	104	1	0	0	0	0	1	0	0	0	2568	1059	37	1	390	1	CADM3	1	159162412	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	119207	159162412	90088209	469	67083											
DARC	2532	broad.mit.edu	37	chr1	159176026	159176026	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctaggactggatttcctggTgaggtccaagctgttgctgt	13	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:159176026T>G	uc001fto.2	+	2	1037	c.797T>G	c.(796-798)GTG>GGG	p.V266G	DARC_uc001ftp.3_Missense_Mutation_p.V268G	NM_002036	NP_002027	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform b	266	Extracellular (Potential).				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			ovary(1)|lung(1)	2	all_hematologic(112;0.0429)					GATTTCCTGGTGAGGTCCAAG	0.557													G	159176026	T	G	159176026	3	3	104	1	0	0	0	0	1	0	0	0	4240	1696	59	5	830	5	DARC	1	159176026	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	13614	159176026	90074595	470	67084											
CRP	1401	broad.mit.edu	37	chr1	159683518	159683518	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaagttcccaccgaaggaatCctgctcctgccccaagatga	8	14	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:159683518C>A	uc001ftw.2	-	2	576	c.472G>T	c.(472-474)GAT>TAT	p.D158Y	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_RNA	NM_000567	NP_000558	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related precursor	158	Pentaxin.	Calcium 2.|Calcium 1.			acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CCGAAGGAATCCTGCTCCTGC	0.527													A	159683518	C	A	159683518	3	1	104	1	0	0	0	0	1	0	0	0	3895	855	30	5	206	5	CRP	1	159683518	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	507492	159683518	89567103	471	67085											
FCRL6	343413	broad.mit.edu	37	chr1	159778115	159778115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctctaaggaaaaccagaCtctgtccatgggagcagcaa	9	10	2	1	rs150017462		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:159778115C>T	uc001fud.3	+	3	242	c.200C>T	c.(199-201)ACT>ATT	p.T67I	FCRL6_uc010pix.1_Missense_Mutation_p.T62I|FCRL6_uc001fuc.2_Missense_Mutation_p.T74I|FCRL6_uc009wsz.1_Missense_Mutation_p.T67I|FCRL6_uc009wta.2_Missense_Mutation_p.T67I	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6 precursor	67	Ig-like C2-type 1.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.0597)					GAAAACCAGACTCTGTCCATG	0.488													T	159778115	C	T	159778115	3	4	104	1	0	0	0	0	1	0	0	0	5799	565	20	4	210	4	FCRL6	1	159778115	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	94597	159778115	89472506	472	67086											
FCRL6	343413	broad.mit.edu	37	chr1	159778757	159778757	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatctccccagagctgtTtccacctcctgtgctgagtg	9	15	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:159778757T>G	uc001fud.3	+	4	368	c.326T>G	c.(325-327)TTT>TGT	p.F109C	FCRL6_uc010pix.1_3'UTR|FCRL6_uc001fuc.2_Missense_Mutation_p.F116C|FCRL6_uc009wsz.1_Intron|FCRL6_uc009wta.2_Missense_Mutation_p.F109C	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6 precursor	109	Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.0597)					CCAGAGCTGTTTCCACCTCCT	0.617													G	159778757	T	G	159778757	3	3	104	1	0	0	0	0	1	0	0	0	5799	1841	64	5	340	5	FCRL6	1	159778757	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	642	159778757	89471864	473	67087											
CCDC19	25790	broad.mit.edu	37	chr1	159846352	159846352	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcccctcctaccgaagaAtcctctcgaactcatcccgg	7	18	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:159846352A>C	uc001fui.2	-	10	1364	c.1346T>G	c.(1345-1347)ATT>AGT	p.I449S	CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.I364S|CCDC19_uc001ful.2_Missense_Mutation_p.I364S|CCDC19_uc009wtc.1_3'UTR	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	449	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CTACCGAAGAATCCTCTCGAA	0.532													C	159846352	A	C	159846352	3	2	104	1	0	0	0	0	1	0	0	0	2795	101	4	5	321	5	CCDC19	1	159846352	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	67595	159846352	89404269	474	67088											
CCDC19	25790	broad.mit.edu	37	chr1	159846428	159846428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaagccacctgttcgagccGactttttcgcagctcagcct	9	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:159846428G>A	uc001fui.2	-	10	1288	c.1270C>T	c.(1270-1272)CGG>TGG	p.R424W	CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.R339W|CCDC19_uc001ful.2_Missense_Mutation_p.R339W|CCDC19_uc009wtc.1_3'UTR	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	424	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TGTTCGAGCCGACTTTTTCGC	0.567													A	159846428	G	A	159846428	3	1	104	1	0	0	0	0	1	0	0	0	2795	1057	37	1	397	1	CCDC19	1	159846428	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	76	159846428	89404193	475	67089											
SLAMF9	89886	broad.mit.edu	37	chr1	159922090	159922090	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggatggggcaagaactgAcgttgctgatggggttgttg	18	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:159922090A>G	uc001fus.2	-	3	743	c.626T>C	c.(625-627)GTC>GCC	p.V209A	SLAMF9_uc009wtd.2_Intron|SLAMF9_uc001fut.2_Intron	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	SLAM family member 9 isoform 1	209	Ig-like C2-type.|Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAAGAACTGACGTTGCTGAT	0.567													G	159922090	A	G	159922090	3	3	104	1	0	0	0	0	1	0	0	0	14371	275	10	3	251	3	SLAMF9	1	159922090	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	75662	159922090	89328531	476	67090											
ATP1A2	477	broad.mit.edu	37	chr1	160097591	160097591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggccaacgtgcctgaggGgcttctggccactgtcactg	14	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:160097591G>A	uc001fvc.2	+	8	1130	c.998G>A	c.(997-999)GGG>GAG	p.G333E	ATP1A2_uc001fvb.2_Missense_Mutation_p.G333E|ATP1A2_uc010piz.1_Missense_Mutation_p.G178E|ATP1A2_uc001fvd.2_Missense_Mutation_p.G69E|ATP1A2_uc009wtg.1_5'Flank	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	333	Helical; (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTGCCTGAGGGGCTTCTGGCC	0.582													A	160097591	G	A	160097591	3	1	104	1	0	0	0	0	1	0	0	0	1129	1232	43	4	1028	4	ATP1A2	1	160097591	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	175501	160097591	89153030	477	67091											
ATP1A2	477	broad.mit.edu	37	chr1	160099926	160099926	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgagaagacagcccccagaGccacgtgctggtgatgaagg	15	11	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:160099926G>T	uc001fvc.2	+	12	1628	c.1496G>T	c.(1495-1497)AGC>ATC	p.S499I	ATP1A2_uc001fvb.2_Missense_Mutation_p.S499I|ATP1A2_uc001fvd.2_Missense_Mutation_p.S235I|ATP1A2_uc009wtg.1_Missense_Mutation_p.S187I	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	499	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGCCCCCAGAGCCACGTGCTG	0.592													T	160099926	G	T	160099926	3	4	104	1	0	0	0	0	1	0	0	0	1129	971	34	5	1542	5	ATP1A2	1	160099926	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2335	160099926	89150695	478	67092											
ATP1A4	480	broad.mit.edu	37	chr1	160125849	160125849	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcagctctacctgagcatCgtactgtccgtcgtggtcat	9	14	3	1	rs141961417		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:160125849C>T	uc001fve.3	+	4	905	c.426C>T	c.(424-426)ATC>ATT	p.I142I	ATP1A4_uc001fvf.3_RNA	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	142	Helical; (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACCTGAGCATCGTACTGTCCG	0.512													T	160125849	C	T	160125849	2	4	104	1	0	0	0	0	0	0	0	1	1131	874	31	1		1	ATP1A4	1	160125849	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	25923	160125849	89124772	479	67093											
CASQ1	844	broad.mit.edu	37	chr1	160160780	160160780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccccgaggatgacaaggCctcacaaagacaatttgaga	9	12	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:160160780C>T	uc010pja.1	+	1	496	c.239C>T	c.(238-240)GCC>GTC	p.A80V		NM_001231	NP_001222	P31415	CASQ1_HUMAN	calsequestrin 1	80						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			central_nervous_system(1)	1	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GATGACAAGGCCTCACAAAGA	0.522													T	160160780	C	T	160160780	3	4	104	1	0	0	0	0	1	0	0	0	2680	739	26	2	241	2	CASQ1	1	160160780	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	34931	160160780	89089841	480	67094											
PEX19	5824	broad.mit.edu	37	chr1	160252819	160252819	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactccttcattgccttctcGaactccgcagtggcttggga	9	13	2	0	rs146644725	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:160252819G>A	uc001fvs.2	-	3	288	c.261C>T	c.(259-261)TTC>TTT	p.F87F	DCAF8_uc010pjc.1_5'UTR|PEX19_uc010pje.1_RNA|PEX19_uc001fvt.2_5'UTR	NM_002857	NP_002848	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19 isoform a	87	Necessary for PEX19 function on peroxisome biogenesis.				peroxisome membrane biogenesis|peroxisome organization|protein targeting to peroxisome|transmembrane transport	brush border membrane|cytosol|integral to membrane|nucleus|peroxisomal membrane	protein binding|protein N-terminus binding				0	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTGCCTTCTCGAACTCCGCAG	0.567													A	160252819	G	A	160252819	2	1	104	1	0	0	0	0	0	0	0	1	11744	1049	37	1		1	PEX19	1	160252819	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	92039	160252819	88997802	481	67095											
COPA	1314	broad.mit.edu	37	chr1	160268902	160268902	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttcatacctcatcatatTttctgttgatcagggccagc	6	12	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:160268902T>G	uc009wti.2	-	18	2214	c.1820A>C	c.(1819-1821)AAA>ACA	p.K607T	COPA_uc001fvv.3_Missense_Mutation_p.K616T	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	607					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCATCATATTTTCTGTTGAT	0.438													G	160268902	T	G	160268902	3	3	104	1	0	0	0	0	1	0	0	0	3727	1841	64	5	1918	5	COPA	1	160268902	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	16083	160268902	88981719	482	67096											
CD84	8832	broad.mit.edu	37	chr1	160523839	160523839	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctccaattgtatgtcacattCttttcttctttctctacaga	3	11	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:160523839C>A	uc001fwh.3	-	3	510	c.486G>T	c.(484-486)AAG>AAT	p.K162N	CD84_uc001fwf.3_Missense_Mutation_p.K162N|CD84_uc001fwg.3_Missense_Mutation_p.K162N|CD84_uc009wtn.2_Missense_Mutation_p.K162N|CD84_uc001fwi.3_Missense_Mutation_p.K48N|CD84_uc001fwj.2_Missense_Mutation_p.K162N|CD84_uc001fwk.2_Missense_Mutation_p.K162N	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	CD84 molecule	162	Extracellular (Potential).|Ig-like C2-type.				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGTCACATTCTTTTCTTCTT	0.458													A	160523839	C	A	160523839	3	1	104	1	0	0	0	0	1	0	0	0	3042	912	32	5	575	5	CD84	1	160523839	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	254937	160523839	88726782	483	67097											
SLAMF1	6504	broad.mit.edu	37	chr1	160604606	160604606	+	Missense_Mutation	SNP	A	A	G													ccacatggtcccccttctccActgtgcagcccagtatcaag							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:160604606A>G	uc001fwl.3	-	3	843	c.497T>C	c.(496-498)GTG>GCG	p.V166A	SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family	166	Ig-like C2-type.|Extracellular (Potential).|Ig-like V-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCCCTTCTCCACTGTGCAGCC	0.572													G	160604606	A	G	160604606	3	3	104	1	0	0	0	0	1	0	0	0	14367	159	6	3	530	3	SLAMF1	1	160604606	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	80767	160604606	88646015	484	67098	311	2									
SLAMF1	6504	broad.mit.edu	37	chr1	160604614	160604614	+	Silent	SNP	G	G	A													tcccccttctccactgtgcaGcccagtatcaaggtgcaggt							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:160604614G>A	uc001fwl.3	-	3	835	c.489C>T	c.(487-489)GGC>GGT	p.G163G	SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family	163	Ig-like C2-type.|Extracellular (Potential).|Ig-like V-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCACTGTGCAGCCCAGTATCA	0.567													A	160604614	G	A	160604614	2	1	104	1	0	0	0	0	0	0	0	1	14367	958	34	2		2	SLAMF1	1	160604614	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	8	160604614	88646007	485	67099	311	2									
SLAMF7	57823	broad.mit.edu	37	chr1	160720183	160720183	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctttgtactggggctatttCtttggtttctgaagagagag	12	5	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:160720183C>A	uc001fwq.2	+	4	754	c.739C>A	c.(739-741)CTT>ATT	p.L247I	SLAMF7_uc010pjn.1_Missense_Mutation_p.L153I|SLAMF7_uc001fws.2_Missense_Mutation_p.L140I|SLAMF7_uc001fwr.2_Missense_Mutation_p.L247I|SLAMF7_uc010pjo.1_Intron|SLAMF7_uc010pjp.1_Intron|SLAMF7_uc010pjq.1_Intron|SLAMF7_uc010pjr.1_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	247	Helical; (Potential).				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			skin(2)|ovary(1)	3	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGGGCTATTTCTTTGGTTTCT	0.428													A	160720183	C	A	160720183	3	1	104	1	0	0	0	0	1	0	0	0	14369	913	32	5	753	5	SLAMF7	1	160720183	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	115569	160720183	88530438	486	67100											
LY9	4063	broad.mit.edu	37	chr1	160793289	160793289	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacacgctatactctgtgctCtcccaaggatatgagaagct	8	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:160793289C>A	uc001fwu.2	+	8	1583	c.1533C>A	c.(1531-1533)CTC>CTA	p.L511L	LY9_uc001fwv.2_Intron|LY9_uc001fww.2_Silent_p.L421L|LY9_uc001fwx.2_Silent_p.L421L|LY9_uc001fwy.1_Intron|LY9_uc001fwz.2_Intron	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9 isoform a	511	Cytoplasmic (Potential).				cell adhesion|immunoglobulin mediated immune response	integral to membrane				ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACTCTGTGCTCTCCCAAGGAT	0.547													A	160793289	C	A	160793289	2	1	104	1	0	0	0	0	0	0	0	1	9101	900	32	5		5	LY9	1	160793289	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	73106	160793289	88457332	487	67101											
CD244	51744	broad.mit.edu	37	chr1	160811101	160811101	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtgagtgccattaatgTcaacctcctcgtccaggtag	10	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:160811101T>C	uc009wtq.2	-	3	747	c.569A>G	c.(568-570)GAC>GGC	p.D190G	CD244_uc001fxa.2_Missense_Mutation_p.D185G|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Intron|CD244_uc010pjt.1_RNA	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	CD244 natural killer cell receptor 2B4	190	Extracellular (Potential).|Ig-like 2.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCCATTAATGTCAACCTCCTC	0.517													C	160811101	T	C	160811101	3	2	104	1	0	0	0	0	1	0	0	0	2987	1667	58	3	571	3	CD244	1	160811101	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	17812	160811101	88439520	488	67102											
F11R	50848	broad.mit.edu	37	chr1	160968840	160968840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggcatactcacttcacttCgggcactaggctggctgtaa	11	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:160968840C>T	uc009wtt.2	-	9	1127	c.857G>A	c.(856-858)CGA>CAA	p.R286Q	F11R_uc010pjv.1_Missense_Mutation_p.R237Q|F11R_uc001fxe.3_Missense_Mutation_p.R283Q|F11R_uc009wtu.2_Intron|F11R_uc010pjw.1_Missense_Mutation_p.R290Q|F11R_uc001fxf.3_Missense_Mutation_p.R286Q	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	F11 receptor precursor	286	Cytoplasmic (Potential).				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				ovary(2)	2	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CACTTCACTTCGGGCACTAGG	0.527													T	160968840	C	T	160968840	3	4	104	1	0	0	0	0	1	0	0	0	5338	884	31	1	50	1	F11R	1	160968840	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	157739	160968840	88281781	489	67103											
ARHGAP30	257106	broad.mit.edu	37	chr1	161017765	161017765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtacaggtctgggttcgccGaactccttgagcctcagtcc	11	13	2	1	rs140478074	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:161017765G>A	uc001fxl.2	-	12	3392	c.3046C>T	c.(3046-3048)CGG>TGG	p.R1016W	USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Missense_Mutation_p.R805W|ARHGAP30_uc001fxm.2_Missense_Mutation_p.R862W|ARHGAP30_uc009wtx.2_Missense_Mutation_p.R689W	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	1016					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TGGGTTCGCCGAACTCCTTGA	0.587													A	161017765	G	A	161017765	3	1	104	1	0	0	0	0	1	0	0	0	879	1057	37	1	263	1	ARHGAP30	1	161017765	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	48925	161017765	88232856	490	67104											
ARHGAP30	257106	broad.mit.edu	37	chr1	161022287	161022287	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatggccagagcgacctaAattgaagatagacctccact	8	12	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:161022287A>C	uc001fxl.2	-	8	1229	c.883T>G	c.(883-885)TTA>GTA	p.L295V	ARHGAP30_uc001fxk.2_Missense_Mutation_p.L295V|ARHGAP30_uc001fxm.2_Missense_Mutation_p.L141V|ARHGAP30_uc009wtx.2_Translation_Start_Site|ARHGAP30_uc001fxn.1_Missense_Mutation_p.L141V	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	295					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GAGCGACCTAAATTGAAGATA	0.542													C	161022287	A	C	161022287	3	2	104	1	0	0	0	0	1	0	0	0	879	11	1	5	2442	5	ARHGAP30	1	161022287	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	4522	161022287	88228334	491	67105											
ARHGAP30	257106	broad.mit.edu	37	chr1	161029440	161029440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggagacccctgagaggCggtagatcccatccaccact	12	13	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:161029440C>T	uc001fxl.2	-	2	510	c.164G>A	c.(163-165)CGC>CAC	p.R55H	ARHGAP30_uc001fxk.2_Missense_Mutation_p.R55H|ARHGAP30_uc001fxm.2_5'UTR|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_5'UTR	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	55	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCCTGAGAGGCGGTAGATCCC	0.562													T	161029440	C	T	161029440	3	4	104	1	0	0	0	0	1	0	0	0	879	768	27	1	3185	1	ARHGAP30	1	161029440	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7153	161029440	88221181	492	67106											
PVRL4	81607	broad.mit.edu	37	chr1	161044462	161044462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattgctgacatggcagacGtagatgccgctgtgctcagt	12	10	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:161044462G>A	uc001fxo.2	-	5	1238	c.939C>T	c.(937-939)TAC>TAT	p.Y313Y	PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_Silent_p.Y47Y	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	313	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CATGGCAGACGTAGATGCCGC	0.572													A	161044462	G	A	161044462	2	1	104	1	0	0	0	0	0	0	0	1	12842	1140	40	1		1	PVRL4	1	161044462	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	15022	161044462	88206159	493	67107											
APOA2	336	broad.mit.edu	37	chr1	161193167	161193167	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagatggtgaggagtaGcacagttgctgcgagcagct	16	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:161193167G>A	uc001fzc.1	-	2	83	c.25C>T	c.(25-27)CTA>TTA	p.L9L	APOA2_uc001fzb.1_RNA|TOMM40L_uc010pkk.1_5'Flank|TOMM40L_uc010pkl.1_5'Flank|TOMM40L_uc001fzd.2_5'Flank|TOMM40L_uc009wue.2_5'Flank|TOMM40L_uc009wuf.1_5'Flank|TOMM40L_uc001fze.2_5'Flank	NM_001643	NP_001634	P02652	APOA2_HUMAN	apolipoprotein A-II preproprotein	9					cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling	chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity			skin(1)	1	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GTGAGGAGTAGCACAGTTGCT	0.562													A	161193167	G	A	161193167	2	1	104	1	0	0	0	0	0	0	0	1	782	962	34	2		2	APOA2	1	161193167	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	148705	161193167	88057454	494	67108											
FCGR3A	2214	broad.mit.edu	37	chr1	161512836	161512836	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctttctccatttaaatTtatggtccttccagtctctt	5	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:161512836T>G	uc001gat.3	-	6	868	c.731A>C	c.(730-732)AAA>ACA	p.K244T	FCGR3A_uc001gar.2_Missense_Mutation_p.K280T|FCGR3A_uc001gas.2_Missense_Mutation_p.K279T|FCGR3A_uc009wuh.2_Missense_Mutation_p.K243T|FCGR3A_uc009wui.2_Missense_Mutation_p.K244T	NM_001127595	NP_001121067	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor	244	Cytoplasmic (Potential).				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCATTTAAATTTATGGTCCTT	0.438													G	161512836	T	G	161512836	3	3	104	1	0	0	0	0	1	0	0	0	5784	1841	64	5	37	5	FCGR3A	1	161512836	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	319669	161512836	87737785	495	67109											
FCGR3A	2214	broad.mit.edu	37	chr1	161518349	161518349	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaggctctcattgtgaaAccactgtgtggaattgtcct	11	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:161518349A>C	uc001gat.3	-	4	318	c.181T>G	c.(181-183)TTT>GTT	p.F61V	FCGR3A_uc001gar.2_Missense_Mutation_p.F97V|FCGR3A_uc001gas.2_Missense_Mutation_p.F96V|FCGR3A_uc009wuh.2_Missense_Mutation_p.F60V|FCGR3A_uc009wui.2_Missense_Mutation_p.F61V	NM_001127595	NP_001121067	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor	61	Ig-like C2-type 1.|Extracellular (Potential).				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCATTGTGAAACCACTGTGTG	0.552													C	161518349	A	C	161518349	3	2	104	1	0	0	0	0	1	0	0	0	5784	43	2	5	595	5	FCGR3A	1	161518349	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	5513	161518349	87732272	496	67110											
NOS1AP	9722	broad.mit.edu	37	chr1	162270424	162270424	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaacttattcatttacagcTtcttttattgcagaaaaagg	5	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:162270424T>G	uc001gbv.2	+	4	659	c.272T>G	c.(271-273)CTT>CGT	p.L91R	NOS1AP_uc010pkr.1_Intron|NOS1AP_uc010pks.1_Intron|NOS1AP_uc001gbw.2_Intron	NM_014697	NP_055512	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor	91	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			lung(2)|upper_aerodigestive_tract(1)	3	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CATTTACAGCTTCTTTTATTG	0.468													G	162270424	T	G	162270424	3	3	104	1	0	0	0	0	1	0	0	0	10542	1623	56	5	286	5	NOS1AP	1	162270424	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	752075	162270424	86980197	497	67111											
UAP1	6675	broad.mit.edu	37	chr1	162551117	162551117	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggcacttgcagcccagaaTattgtggaggatatggagca	14	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:162551117T>C	uc001gce.3	+	5	1031	c.702T>C	c.(700-702)AAT>AAC	p.N234N		NM_003115	NP_003106	Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	234					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			ovary(2)|skin(2)|kidney(1)	5	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CAGCCCAGAATATTGTGGAGG	0.403													C	162551117	T	C	162551117	2	2	104	1	0	0	0	0	0	0	0	1	16822	1403	49	3		3	UAP1	1	162551117	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	280693	162551117	86699504	498	67112											
UAP1	6675	broad.mit.edu	37	chr1	162560241	162560241	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcccttcatcattgctgggTcctcaatgcagggggccatt	11	12	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:162560241T>C	uc001gce.3	+	8	1627	c.1298T>C	c.(1297-1299)GTC>GCC	p.V433A		NM_003115	NP_003106	Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	433					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			ovary(2)|skin(2)|kidney(1)	5	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CATTGCTGGGTCCTCAATGCA	0.443													C	162560241	T	C	162560241	3	2	104	1	0	0	0	0	1	0	0	0	16822	1667	58	3	1324	3	UAP1	1	162560241	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	9124	162560241	86690380	499	67113											
NUF2	83540	broad.mit.edu	37	chr1	163317623	163317623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attgaagactgaagaaaattCgttcaaaagactgatgattg	9	4	1	7			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:163317623C>T	uc001gcq.1	+	12	1319	c.1019C>T	c.(1018-1020)TCG>TTG	p.S340L	NUF2_uc001gcr.1_Missense_Mutation_p.S340L|NUF2_uc009wvc.1_Missense_Mutation_p.S293L	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	340	Interaction with the N-terminus of NDC80.|Potential.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			ovary(3)|skin(1)	4	all_hematologic(923;0.101)					GAAGAAAATTCGTTCAAAAGA	0.338													T	163317623	C	T	163317623	3	4	104	1	0	0	0	0	1	0	0	0	10747	893	31	1	1061	1	NUF2	1	163317623	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	757382	163317623	85932998	500	67114											
PBX1	5087	broad.mit.edu	37	chr1	164815832	164815832	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttctaggctaatggaggTtggcaggatgctactacccc	11	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:164815832T>G	uc001gct.2	+	9	1470	c.1212T>G	c.(1210-1212)GGT>GGG	p.G404G	PBX1_uc010pku.1_Intron|PBX1_uc010pkv.1_Silent_p.G321G|PBX1_uc001gcs.2_3'UTR|PBX1_uc010pkw.1_Intron	NM_002585	NP_002576	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	404					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	soft_tissue(3)|lung(1)|skin(1)	5						CTAATGGAGGTTGGCAGGATG	0.463			T	TCF3|EWSR1	pre B-ALL|myoepithelioma								G	164815832	T	G	164815832	2	3	104	1	0	0	0	0	0	0	0	1	11492	1712	60	5		5	PBX1	1	164815832	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1498209	164815832	84434789	501	67115											
LMX1A	4009	broad.mit.edu	37	chr1	165182951	165182951	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttgagttgtcaagatggttCtcggacgtttggggcgctta	15	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:165182951C>T	uc001gcy.1	-	4	817	c.596G>A	c.(595-597)AGA>AAA	p.R199K	LMX1A_uc001gcz.1_Missense_Mutation_p.R199K|LMX1A_uc001gcw.1_5'Flank|LMX1A_uc001gcx.1_5'Flank	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	199	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	all_hematologic(923;0.248)					CAAGATGGTTCTCGGACGTTT	0.522													T	165182951	C	T	165182951	3	4	104	1	0	0	0	0	1	0	0	0	8861	913	32	4	572	4	LMX1A	1	165182951	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	367119	165182951	84067670	502	67116											
ALDH9A1	223	broad.mit.edu	37	chr1	165638645	165638645	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcctctgtaaatttatcaaGaatttctttctgcacaaata	3	8	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:165638645G>T	uc001gdh.1	-	7	1078	c.973C>A	c.(973-975)CTT>ATT	p.L325I	ALDH9A1_uc010pky.1_Missense_Mutation_p.L231I|ALDH9A1_uc010pkz.1_Missense_Mutation_p.L315I|ALDH9A1_uc010pla.1_Missense_Mutation_p.L231I	NM_000696	NP_000687	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9A1	301					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	AATTTATCAAGAATTTCTTTC	0.393													T	165638645	G	T	165638645	3	4	104	1	0	0	0	0	1	0	0	0	506	942	33	5	603	5	ALDH9A1	1	165638645	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	455694	165638645	83611976	503	67117											
ALDH9A1	223	broad.mit.edu	37	chr1	165664630	165664630	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgtgaaagtagctatcacTcggcctataaagagcggaaa	10	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:165664630T>G	uc001gdh.1	-	2	291	c.186A>C	c.(184-186)CGA>CGC	p.R62R	ALDH9A1_uc010pky.1_5'UTR|ALDH9A1_uc010pkz.1_Silent_p.R52R|ALDH9A1_uc010pla.1_5'UTR	NM_000696	NP_000687	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9A1	38					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	TAGCTATCACTCGGCCTATAA	0.323													G	165664630	T	G	165664630	2	3	104	1	0	0	0	0	0	0	0	1	506	1538	54	5		5	ALDH9A1	1	165664630	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	25985	165664630	83585991	504	67118											
MAEL	84944	broad.mit.edu	37	chr1	166973498	166973498	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttacaaaacctttatagatTtattcatcccaacccaggga	5	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:166973498T>G	uc001gdy.1	+	6	676	c.605T>G	c.(604-606)TTT>TGT	p.F202C	MAEL_uc001gdz.1_Missense_Mutation_p.F171C|MAEL_uc009wvf.1_RNA	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	maelstrom homolog	202					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			skin(1)	1						CTTTATAGATTTATTCATCCC	0.363													G	166973498	T	G	166973498	3	3	104	1	0	0	0	0	1	0	0	0	9154	1841	64	5	627	5	MAEL	1	166973498	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1308868	166973498	82277123	505	67119											
DUSP27	92235	broad.mit.edu	37	chr1	167097037	167097037	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatggggatgaggacactgAcagtgccatagggagcttcc	15	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:167097037A>G	uc001geb.1	+	5	2669	c.2669A>G	c.(2668-2670)GAC>GGC	p.D890G		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	890					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						GAGGACACTGACAGTGCCATA	0.502													G	167097037	A	G	167097037	3	3	104	1	0	0	0	0	1	0	0	0	4824	275	10	3	2687	3	DUSP27	1	167097037	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	123539	167097037	82153584	506	67120											
CD247	919	broad.mit.edu	37	chr1	167408594	167408594	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacttacgttatagagctggTtctggccctgctggtacgcg	13	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:167408594T>C	uc001gei.3	-	3	351	c.206A>G	c.(205-207)AAC>AGC	p.N69S	CD247_uc001gej.3_Missense_Mutation_p.N69S|CD247_uc001gek.2_Missense_Mutation_p.N69S	NM_198053	NP_932170	P20963	CD3Z_HUMAN	T-cell receptor zeta chain isoform 1 precursor	69	Cytoplasmic (Potential).|ITAM 1.				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity				0			LUSC - Lung squamous cell carcinoma(543;0.236)			ATAGAGCTGGTTCTGGCCCTG	0.602													C	167408594	T	C	167408594	3	2	104	1	0	0	0	0	1	0	0	0	2988	1725	60	3	312	3	CD247	1	167408594	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	311557	167408594	81842027	507	67121											
DCAF6	55827	broad.mit.edu	37	chr1	167921046	167921046	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctttttaaacaggaagaagaGaatttatccaaagattaaaa	6	4	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:167921046G>A	uc001gew.2	+	2	348	c.106G>A	c.(106-108)GAA>AAA	p.E36K	DCAF6_uc001gev.2_Missense_Mutation_p.E36K|DCAF6_uc001gex.2_Missense_Mutation_p.E36K|DCAF6_uc010plk.1_Missense_Mutation_p.E36K	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform b	36					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						AGGAAGAAGAGAATTTATCCA	0.249													A	167921046	G	A	167921046	3	1	104	1	0	0	0	0	1	0	0	0	4274	943	33	4	112	4	DCAF6	1	167921046	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	512452	167921046	81329575	508	67122											
DCAF6	55827	broad.mit.edu	37	chr1	168037606	168037606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccttgtaggttataactcGaaacgaactcatgctggaag	10	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:168037606G>A	uc001gew.2	+	18	2665	c.2423G>A	c.(2422-2424)CGA>CAA	p.R808Q	DCAF6_uc001gev.2_Missense_Mutation_p.R828Q|DCAF6_uc001gex.2_Missense_Mutation_p.R899Q|DCAF6_uc010plk.1_Missense_Mutation_p.R868Q|DCAF6_uc001gey.2_Missense_Mutation_p.R681Q|DCAF6_uc001gez.2_Missense_Mutation_p.R111Q	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform b	808					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GTTATAACTCGAAACGAACTC	0.388													A	168037606	G	A	168037606	3	1	104	1	0	0	0	0	1	0	0	0	4274	1058	37	1	2557	1	DCAF6	1	168037606	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	116560	168037606	81213015	509	67123											
SFT2D2	375035	broad.mit.edu	37	chr1	168208388	168208388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtacagcctttccttcataCcatttgcaaggtaagactgt	8	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:168208388C>T	uc001gfi.3	+	7	496	c.433C>T	c.(433-435)CCA>TCA	p.P145S	TBX19_uc001gfj.3_Intron	NM_199344	NP_955376	O95562	SFT2B_HUMAN	SFT2 domain containing 2	145	Cytoplasmic (Potential).				protein transport|vesicle-mediated transport	integral to membrane				skin(1)	1	all_hematologic(923;0.215)					TTCCTTCATACCATTTGCAAG	0.353													T	168208388	C	T	168208388	3	4	104	1	0	0	0	0	1	0	0	0	14186	507	18	4	459	4	SFT2D2	1	168208388	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	170782	168208388	81042233	510	67124											
ATP1B1	481	broad.mit.edu	37	chr1	169080737	169080737	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccgagtggccccgccagGtaaaatccacatgaatagct	11	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:169080737G>A	uc001gfs.1	+	2		c.347_splice	c.e2+1					P05026	AT1B1_HUMAN	Synthetic construct DNA, clone: pF1KB8186, Homo sapiens ATP1B1 gene for ATPase, Na+/K+ transporting, beta 1 polypeptide, without stop codon, in Flexi system.						ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	all_hematologic(923;0.208)					GCCCCGCCAGGTAAAATCCAC	0.433													A	169080737	G	A	169080737	5	1	104	1	0	0	0	0	0	0	1	0	1132	1275	44	4	233	4	ATP1B1	1	169080737	Splice_Site	SNP	G	TCGA-BR-8680-01A-11D-2394-08	872349	169080737	80169884	511	67125											
ATP1B1	481	broad.mit.edu	37	chr1	169101455	169101455	+	RNA	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acactacagaaaaacacaaaAaggtgatgggttgtgttatg	10	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:169101455A>C	uc001gfs.1	+	6		c.1699A>C						P05026	AT1B1_HUMAN	Synthetic construct DNA, clone: pF1KB8186, Homo sapiens ATP1B1 gene for ATPase, Na+/K+ transporting, beta 1 polypeptide, without stop codon, in Flexi system.						ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	all_hematologic(923;0.208)					AAAACACAAAAAGGTGATGGG	0.428													C	169101455	A	C	169101455	1	2	104	0	1	0	0	0	0	0	0	0	1132	29	1	5		5	ATP1B1	1	169101455	RNA	SNP	A	TCGA-BR-8680-01A-11D-2394-08	20718	169101455	80149166	512	67126											
NME7	29922	broad.mit.edu	37	chr1	169292429	169292429	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aataccagttgtcgagaaaaGacattcactttgttgcctat	7	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:169292429G>T	uc001gfu.2	-	3	442	c.204C>A	c.(202-204)GTC>GTA	p.V68V	NME7_uc010plq.1_RNA|NME7_uc001gft.2_Silent_p.V32V|NME7_uc001gfv.1_Silent_p.V68V	NM_013330	NP_037462	Q9Y5B8	NDK7_HUMAN	nucleoside diphosphate kinase 7 isoform a	68	DM10.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)	1	all_hematologic(923;0.208)					GTCGAGAAAAGACATTCACTT	0.358													T	169292429	G	T	169292429	2	4	104	1	0	0	0	0	0	0	0	1	10496	929	33	5		5	NME7	1	169292429	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	190974	169292429	79958192	513	67127											
F5	2153	broad.mit.edu	37	chr1	169509977	169509977	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggaggtgatatctggctgaGatccgggagaagggtggtgt	19	4	1	3	rs35866019		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:169509977G>A	uc001ggg.1	-	13	4496	c.4351C>T	c.(4351-4353)CTC>TTC	p.L1451F		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1451	2-30.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATCTGGCTGAGATCCGGGAGA	0.468													A	169509977	G	A	169509977	3	1	104	1	0	0	0	0	1	0	0	0	5348	942	33	4	2375	4	F5	1	169509977	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	217548	169509977	79740644	514	67128											
F5	2153	broad.mit.edu	37	chr1	169521904	169521904	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcatcttcgtactgtgtgTacataactttcttataatgt	5	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:169521904T>C	uc001ggg.1	-	8	1332	c.1187A>G	c.(1186-1188)TAC>TGC	p.Y396C	F5_uc010plr.1_RNA	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	396	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTACTGTGTGTACATAACTTT	0.348													C	169521904	T	C	169521904	3	2	104	1	0	0	0	0	1	0	0	0	5348	1638	57	3	5559	3	F5	1	169521904	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	11927	169521904	79728717	515	67129											
C1orf112	55732	broad.mit.edu	37	chr1	169771777	169771777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacagactgtgaaattattcGatgacatgatgtatgaatta	8	4	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:169771777G>A	uc001ggp.2	+	5	392	c.82G>A	c.(82-84)GAT>AAT	p.D28N	C1orf112_uc001ggj.2_RNA|C1orf112_uc001ggo.2_Missense_Mutation_p.D28N|C1orf112_uc001ggq.2_Missense_Mutation_p.D28N|C1orf112_uc009wvt.2_5'UTR|C1orf112_uc010plu.1_5'UTR|C1orf112_uc009wvu.1_5'UTR|C1orf112_uc001ggr.2_5'UTR|C1orf112_uc010plv.1_5'Flank	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	hypothetical protein LOC55732	28											0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAAATTATTCGATGACATGAT	0.323													A	169771777	G	A	169771777	3	1	104	1	0	0	0	0	1	0	0	0	1985	1058	37	1	88	1	C1orf112	1	169771777	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	249873	169771777	79478844	516	67130											
SCYL3	57147	broad.mit.edu	37	chr1	169823858	169823858	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagtatctaagctgctgggCtcgcagtcatcccaagatga	10	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:169823858C>T	uc001ggs.2	-	13	1920	c.1722G>A	c.(1720-1722)GAG>GAA	p.E574E	SCYL3_uc010plw.1_Silent_p.E166E|SCYL3_uc001ggt.2_Silent_p.E520E|SCYL3_uc001ggu.2_RNA	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	574	Interaction with EZR.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCTGCTGGGCTCGCAGTCAT	0.473													T	169823858	C	T	169823858	2	4	104	1	0	0	0	0	0	0	0	1	13949	796	28	2		2	SCYL3	1	169823858	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	52081	169823858	79426763	517	67131											
SCYL3	57147	broad.mit.edu	37	chr1	169828220	169828220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttttagtaaaacttgggGcagtgcgtttgaagatcttg	11	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:169828220G>A	uc001ggs.2	-	11	1472	c.1274C>T	c.(1273-1275)GCC>GTC	p.A425V	SCYL3_uc010plw.1_Missense_Mutation_p.A71V|SCYL3_uc001ggt.2_Missense_Mutation_p.A425V|SCYL3_uc001ggu.2_RNA	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	425					cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAAACTTGGGGCAGTGCGTTT	0.383													A	169828220	G	A	169828220	3	1	104	1	0	0	0	0	1	0	0	0	13949	1203	42	2	970	2	SCYL3	1	169828220	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4362	169828220	79422401	518	67132											
SCYL3	57147	broad.mit.edu	37	chr1	169836042	169836042	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attttctgaacttacttaaaGaattccgttttctcctcttc	3	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:169836042G>T	uc001ggs.2	-	8	1008	c.810C>A	c.(808-810)TTC>TTA	p.F270L	SCYL3_uc010plw.1_5'UTR|SCYL3_uc001ggt.2_Missense_Mutation_p.F270L|SCYL3_uc001ggu.2_RNA	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	270					cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTACTTAAAGAATTCCGTTT	0.289													T	169836042	G	T	169836042	3	4	104	1	0	0	0	0	1	0	0	0	13949	933	33	5	1446	5	SCYL3	1	169836042	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	7822	169836042	79414579	519	67133											
GORAB	92344	broad.mit.edu	37	chr1	170511686	170511686	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaacaacggctaatggaagaGaaaaataaacgtaaaaaagc	9	5	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:170511686G>T	uc001gha.2	+	3	576	c.549G>T	c.(547-549)GAG>GAT	p.E183D	GORAB_uc001ggz.3_Missense_Mutation_p.E183D|GORAB_uc009wvx.2_Missense_Mutation_p.E3D|GORAB_uc001ghb.2_Missense_Mutation_p.E3D|GORAB_uc001ghc.2_Missense_Mutation_p.E3D|GORAB_uc001ghd.2_5'Flank	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting isoform a	183	Potential.					Golgi apparatus|nucleus					0						TAATGGAAGAGAAAAATAAAC	0.398													T	170511686	G	T	170511686	3	4	104	1	0	0	0	0	1	0	0	0	6574	933	33	5	559	5	GORAB	1	170511686	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	675644	170511686	78738935	520	67134											
C1orf129	80133	broad.mit.edu	37	chr1	170952658	170952658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaaggagtttcaacaagacGaaagtaaaatagctcaggta	9	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:170952658G>A	uc001ghg.2	+	9	842	c.712G>A	c.(712-714)GAA>AAA	p.E238K	C1orf129_uc009wvy.2_Missense_Mutation_p.E45K|C1orf129_uc010plz.1_Missense_Mutation_p.E238K	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	238							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCAACAAGACGAAAGTAAAAT	0.358													A	170952658	G	A	170952658	3	1	104	1	0	0	0	0	1	0	0	0	1996	1059	37	1	742	1	C1orf129	1	170952658	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	440972	170952658	78297963	521	67135											
C1orf129	80133	broad.mit.edu	37	chr1	170967331	170967331	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aactttccacagtttccggaGaccctgagttatctctataa	6	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:170967331G>T	uc001ghg.2	+	15	1642	c.1512G>T	c.(1510-1512)GAG>GAT	p.E504D	C1orf129_uc009wvy.2_Missense_Mutation_p.E311D|C1orf129_uc010plz.1_Missense_Mutation_p.E504D	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	504							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGTTTCCGGAGACCCTGAGTT	0.393													T	170967331	G	T	170967331	3	4	104	1	0	0	0	0	1	0	0	0	1996	933	33	5	1566	5	C1orf129	1	170967331	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	14673	170967331	78283290	522	67136											
C1orf129	80133	broad.mit.edu	37	chr1	170967484	170967484	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccaaatttaaatcaaaattCcagtttctcgtatctctccc	2	13	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:170967484C>T	uc001ghg.2	+	15	1795	c.1665C>T	c.(1663-1665)TTC>TTT	p.F555F	C1orf129_uc009wvy.2_Silent_p.F362F|C1orf129_uc010plz.1_Intron	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	555							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AATCAAAATTCCAGTTTCTCG	0.383													T	170967484	C	T	170967484	2	4	104	1	0	0	0	0	0	0	0	1	1996	854	30	4		4	C1orf129	1	170967484	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	153	170967484	78283137	523	67137											
FMO2	2327	broad.mit.edu	37	chr1	171173122	171173122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctccgcaatgtactgccacGaacagctgtaaaatggatga	10	10	0	1	rs147029269	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:171173122G>A	uc001ghk.1	+	6	863	c.746G>A	c.(745-747)CGA>CAA	p.R249Q	FMO2_uc010pmd.1_Missense_Mutation_p.R29Q	NM_001460	NP_001451	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2	249					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTACTGCCACGAACAGCTGTA	0.453													A	171173122	G	A	171173122	3	1	104	1	0	0	0	0	1	0	0	0	5955	1058	37	1	764	1	FMO2	1	171173122	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	205638	171173122	78077499	524	67138											
FMO4	2329	broad.mit.edu	37	chr1	171300852	171300852	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggctttcagggcaaacgCgtcttggtgattggtcttgg	15	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:171300852C>T	uc001gho.2	+	6	775	c.558C>T	c.(556-558)CGC>CGT	p.R186R		NM_002022	NP_002013	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	186					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			kidney(2)|skin(1)	3	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGGGCAAACGCGTCTTGGTGA	0.468													T	171300852	C	T	171300852	2	4	104	1	0	0	0	0	0	0	0	1	5957	755	27	1		1	FMO4	1	171300852	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	127730	171300852	77949769	525	67139											
PIGC	5279	broad.mit.edu	37	chr1	172411136	172411136	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacatgggccacagggcaaaAatctgaatggcaaatgtcac	10	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:172411136A>C	uc001gil.2	-	2	908	c.627T>G	c.(625-627)ATT>ATG	p.I209M	PIGC_uc001gii.1_Intron|PIGC_uc001gij.1_Intron|C1orf105_uc001gik.2_Intron|PIGC_uc001gin.2_Missense_Mutation_p.I209M|PIGC_uc001gio.2_Missense_Mutation_p.I209M	NM_153747	NP_714969	Q92535	PIGC_HUMAN	phosphatidylinositol glycan, class C	209					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			lung(1)	1						ACAGGGCAAAAATCTGAATGG	0.512													C	172411136	A	C	172411136	3	2	104	1	0	0	0	0	1	0	0	0	11886	10	1	5	270	5	PIGC	1	172411136	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1110284	172411136	76839485	526	67140											
C1orf9	51430	broad.mit.edu	37	chr1	172539808	172539808	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctttttaaaatagagcacAtctgctattcttatagaaaa	4	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:172539808A>G	uc001giq.3	+	9	1303	c.987A>G	c.(985-987)ACA>ACG	p.T329T	C1orf9_uc010pmm.1_Silent_p.T329T|C1orf9_uc009wwd.2_Silent_p.T292T|C1orf9_uc010pmn.1_Silent_p.T292T|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	329	SUN.				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		AATAGAGCACATCTGCTATTC	0.264													G	172539808	A	G	172539808	2	3	104	1	0	0	0	0	0	0	0	1	2067	204	8	3		3	C1orf9	1	172539808	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	128672	172539808	76710813	527	67141											
FASLG	356	broad.mit.edu	37	chr1	172634779	172634779	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcaagtccaactcaaggTccatgcctctggaatgggaa	11	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:172634779T>C	uc001gis.2	+	4	626	c.469T>C	c.(469-471)TCC>CCC	p.S157P	FASLG_uc001git.2_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	fas ligand	157	Extracellular (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			lung(2)|breast(1)	3						CAACTCAAGGTCCATGCCTCT	0.443													C	172634779	T	C	172634779	3	2	104	1	0	0	0	0	1	0	0	0	5682	1667	58	3	483	3	FASLG	1	172634779	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	94971	172634779	76615842	528	67142											
TNFSF4	7292	broad.mit.edu	37	chr1	173176216	173176216	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcacaggagcagccccaGtccctgaattacagaggcca	11	13	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:173176216G>A	uc001giw.2	-	1	256	c.100C>T	c.(100-102)CTG>TTG	p.L34L	TNFSF4_uc001giv.2_5'Flank	NM_003326	NP_003317	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily,	34	Helical; Signal-anchor for type II membrane protein; (Potential).				acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			central_nervous_system(1)	1						AGCAGCCCCAGTCCCTGAATT	0.542													A	173176216	G	A	173176216	2	1	104	1	0	0	0	0	0	0	0	1	16307	1020	36	4		4	TNFSF4	1	173176216	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	541437	173176216	76074405	529	67143											
SLC9A11	284525	broad.mit.edu	37	chr1	173542456	173542456	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catatacagatgaaaaaattCttaagaacctaggatgaatg	7	5	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:173542456C>A	uc001giz.2	-	9	1334	c.911G>T	c.(910-912)AGA>ATA	p.R304I	SLC9A11_uc009wwe.2_5'UTR|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	304					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						TGAAAAAATTCTTAAGAACCT	0.274													A	173542456	C	A	173542456	3	1	104	1	0	0	0	0	1	0	0	0	14711	913	32	5	2543	5	SLC9A11	1	173542456	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	366240	173542456	75708165	530	67144											
ANKRD45	339416	broad.mit.edu	37	chr1	173616051	173616051	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcaacatctcgagccctttCttcccggaagttcaaagctt	7	13	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:173616051C>A	uc001gja.1	-	3	491	c.430G>T	c.(430-432)GAA>TAA	p.E144*		NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	160											0						CGAGCCCTTTCTTCCCGGAAG	0.468													A	173616051	C	A	173616051	4	1	104	1	0	0	0	0	0	1	0	0	673	922	32	5	386	5	ANKRD45	1	173616051	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	73595	173616051	75634570	531	67145											
DARS2	55157	broad.mit.edu	37	chr1	173795873	173795873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacatgtggagagttgcgttCgtctcacttaggccaagaag	12	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:173795873C>T	uc001gjh.1	+	2	586	c.176C>T	c.(175-177)TCG>TTG	p.S59L	CENPL_uc009wwg.2_5'Flank|CENPL_uc001gje.3_5'Flank|CENPL_uc001gjg.3_5'Flank|CENPL_uc001gjf.3_5'Flank	NM_018122	NP_060592	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	59					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			central_nervous_system(2)	2					L-Aspartic Acid(DB00128)	GAGTTGCGTTCGTCTCACTTA	0.383													T	173795873	C	T	173795873	3	4	104	1	0	0	0	0	1	0	0	0	4242	893	31	1	182	1	DARS2	1	173795873	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	179822	173795873	75454748	532	67146											
RC3H1	149041	broad.mit.edu	37	chr1	173934066	173934066	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctggggtctgtccctcgCggaataagctgtgttactgt	13	9	1	0	rs143588430	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:173934066C>T	uc001gju.3	-	9	1614	c.1527G>A	c.(1525-1527)CCG>CCA	p.P509P	RC3H1_uc010pms.1_Silent_p.P509P|RC3H1_uc001gjv.2_Silent_p.P509P|RC3H1_uc010pmt.1_Silent_p.P509P	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	509					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						CTGTCCCTCGCGGAATAAGCT	0.478													T	173934066	C	T	173934066	2	4	104	1	0	0	0	0	0	0	0	1	13166	755	27	1		1	RC3H1	1	173934066	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	138193	173934066	75316555	533	67147											
TNR	7143	broad.mit.edu	37	chr1	175325525	175325525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatacatggtggcagtataGtgggtgctaggaagcaggtc	16	6	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:175325525G>A	uc001gkp.1	-	14	3129	c.3048C>T	c.(3046-3048)CAC>CAT	p.H1016H	TNR_uc009wwu.1_Silent_p.H1016H	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1016	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					TGGCAGTATAGTGGGTGCTAG	0.488													A	175325525	G	A	175325525	2	1	104	1	0	0	0	0	0	0	0	1	16335	1020	36	4		4	TNR	1	175325525	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1391459	175325525	73925096	534	67148											
TNR	7143	broad.mit.edu	37	chr1	175372721	175372721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaagctaaagttgccgtgGccactgcagtgagggatata	12	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:175372721G>A	uc001gkp.1	-	2	612	c.531C>T	c.(529-531)GGC>GGT	p.G177G	TNR_uc009wwu.1_Silent_p.G177G|TNR_uc010pmz.1_Silent_p.G177G	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	177	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					AGTTGCCGTGGCCACTGCAGT	0.562													A	175372721	G	A	175372721	2	1	104	1	0	0	0	0	0	0	0	1	16335	1190	42	2		2	TNR	1	175372721	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	47196	175372721	73877900	535	67149											
TNR	7143	broad.mit.edu	37	chr1	175375428	175375428	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctccctctccagcatctcGatccggctcagcagctcctg	7	19	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:175375428G>A	uc001gkp.1	-	1	504	c.423C>T	c.(421-423)ATC>ATT	p.I141I	TNR_uc009wwu.1_Silent_p.I141I|TNR_uc010pmz.1_Silent_p.I141I	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	141	Potential.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					CCAGCATCTCGATCCGGCTCA	0.597													A	175375428	G	A	175375428	2	1	104	1	0	0	0	0	0	0	0	1	16335	1048	37	1		1	TNR	1	175375428	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2707	175375428	73875193	536	67150											
PAPPA2	60676	broad.mit.edu	37	chr1	176525332	176525332	+	Translation_Start_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctatttgaaaaagtttggtCtgtgaacaaaacagtttccc	8	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:176525332C>A	uc001gkz.2	+	2	1038	c.-126C>A	c.(-128--124)GTCTG>GTATG		PAPPA2_uc001gky.1_Translation_Start_Site|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1						cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						AAAGTTTGGTCTGTGAACAAA	0.527													A	176525332	C	A	176525332	1	1	104	1	0	0	0	0	0	0	0	0	11433	928	32	5		5	PAPPA2	1	176525332	Translation_Start_Site	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1149904	176525332	72725289	537	67151											
ASTN1	460	broad.mit.edu	37	chr1	176857271	176857271	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaagcagtggagtcacatcGacaccagtcctcgatgacat	9	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:176857271G>A	uc001glc.2	-	18	3222	c.3010C>T	c.(3010-3012)CGA>TGA	p.R1004*	ASTN1_uc001glb.1_Nonsense_Mutation_p.R1004*|ASTN1_uc001gld.1_Nonsense_Mutation_p.R1004*	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	1012					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						GAGTCACATCGACACCAGTCC	0.527													A	176857271	G	A	176857271	4	1	104	1	0	0	0	0	0	1	0	0	1064	1066	37	1	902	1	ASTN1	1	176857271	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	331939	176857271	72393350	538	67152											
ASTN1	460	broad.mit.edu	37	chr1	176903370	176903370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagaacaggactcctcaaaGccgtagatagcttcctggat	9	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:176903370G>A	uc001glc.2	-	16	2801	c.2589C>T	c.(2587-2589)GGC>GGT	p.G863G	ASTN1_uc001glb.1_Silent_p.G863G|ASTN1_uc001gld.1_Silent_p.G863G	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	871					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						ACTCCTCAAAGCCGTAGATAG	0.522													A	176903370	G	A	176903370	2	1	104	1	0	0	0	0	0	0	0	1	1064	958	34	2		2	ASTN1	1	176903370	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	46099	176903370	72347251	539	67153											
ASTN1	460	broad.mit.edu	37	chr1	176983952	176983952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtttgtcccccattcgttccGaatgcaaaggtgcttatgta	9	10	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:176983952G>A	uc001glc.2	-	8	1710	c.1498C>T	c.(1498-1500)CGG>TGG	p.R500W	ASTN1_uc001glb.1_Missense_Mutation_p.R500W|ASTN1_uc001gld.1_Missense_Mutation_p.R500W|ASTN1_uc009wwx.1_Missense_Mutation_p.R500W|ASTN1_uc001gle.3_RNA	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	508					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						CATTCGTTCCGAATGCAAAGG	0.493													A	176983952	G	A	176983952	3	1	104	1	0	0	0	0	1	0	0	0	1064	1057	37	1	2454	1	ASTN1	1	176983952	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	80582	176983952	72266669	540	67154											
FAM5B	57795	broad.mit.edu	37	chr1	177245497	177245497	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aactgccctgatgctgacatCcaggccatggaggacagcct	11	13	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:177245497C>T	uc001glf.2	+	6	1251	c.939C>T	c.(937-939)ATC>ATT	p.I313I	FAM5B_uc010pna.1_Silent_p.I63I|FAM5B_uc001glg.2_Silent_p.I208I	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	313						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						ATGCTGACATCCAGGCCATGG	0.577													T	177245497	C	T	177245497	2	4	104	1	0	0	0	0	0	0	0	1	5593	845	30	4		4	FAM5B	1	177245497	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	261545	177245497	72005124	541	67155											
RASAL2	9462	broad.mit.edu	37	chr1	178423770	178423770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttactgtgggaagtagtttCccaacttgataaggtaaagt	10	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:178423770C>T	uc001glr.2	+	10	1879	c.1754C>T	c.(1753-1755)TCC>TTC	p.S585F	RASAL2_uc001glq.2_Missense_Mutation_p.S733F|RASAL2_uc009wxc.2_Missense_Mutation_p.S99F	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	585					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						GAAGTAGTTTCCCAACTTGAT	0.418													T	178423770	C	T	178423770	3	4	104	1	0	0	0	0	1	0	0	0	13064	855	30	4	2261	4	RASAL2	1	178423770	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1178273	178423770	70826851	542	67156											
C1orf125	126859	broad.mit.edu	37	chr1	179399642	179399642	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaaaatggagaaacttagTgaataaacttaaacaagagg	8	4	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:179399642T>C	uc001gmo.2	+	14	1515	c.1388T>C	c.(1387-1389)GTG>GCG	p.V463A	C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Missense_Mutation_p.V251A|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.V463A	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	463	Potential.										0						AGAAACTTAGTGAATAAACTT	0.338													C	179399642	T	C	179399642	3	2	104	1	0	0	0	0	1	0	0	0	1993	1696	59	3	1438	3	C1orf125	1	179399642	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	975872	179399642	69850979	543	67157											
C1orf125	126859	broad.mit.edu	37	chr1	179504086	179504086	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcagaaaattcctcaaaatCtccaaagaaaggtaaggatt	7	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:179504086C>T	uc001gmo.2	+	25	3147	c.3020C>T	c.(3019-3021)TCT>TTT	p.S1007F	C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.S933F|C1orf125_uc009wxh.2_RNA	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	1007											0						TCCTCAAAATCTCCAAAGAAA	0.214													T	179504086	C	T	179504086	3	4	104	1	0	0	0	0	1	0	0	0	1993	913	32	4	3114	4	C1orf125	1	179504086	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	104444	179504086	69746535	544	67158											
NPHS2	7827	broad.mit.edu	37	chr1	179528894	179528894	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcagggcaaaaaaaagaaaaGacctaaaagagaggaggagg	14	4	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:179528894G>T	uc001gmq.3	-	4	539	c.454C>A	c.(454-456)CTT>ATT	p.L152I	NPHS2_uc009wxi.2_Missense_Mutation_p.L152I	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	podocin	152	Cytoplasmic (Potential).				excretion	integral to plasma membrane	protein binding				0						AAAAAGAAAAGACCTAAAAGA	0.438													T	179528894	G	T	179528894	3	4	104	1	0	0	0	0	1	0	0	0	10583	942	33	5	717	5	NPHS2	1	179528894	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	24808	179528894	69721727	545	67159											
TDRD5	163589	broad.mit.edu	37	chr1	179564917	179564917	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccaagttaaatgtagtggaGacttcaagactgaatcacac	8	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:179564917G>A	uc001gnf.1	+	4	1045	c.795G>A	c.(793-795)GAG>GAA	p.E265E	TDRD5_uc010pnp.1_Silent_p.E265E	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	265					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|skin(2)|central_nervous_system(1)	5						ATGTAGTGGAGACTTCAAGAC	0.363													A	179564917	G	A	179564917	2	1	104	1	0	0	0	0	0	0	0	1	15730	933	33	4		4	TDRD5	1	179564917	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	36023	179564917	69685704	546	67160											
KIAA1614	57710	broad.mit.edu	37	chr1	180904388	180904388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggcggggcccctcgccgtCgcacgtgcgctttgaggatg	17	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:180904388C>T	uc001gok.2	+	5	1410	c.1343C>T	c.(1342-1344)TCG>TTG	p.S448L	KIAA1614_uc001gol.1_Missense_Mutation_p.S69L|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	448										ovary(3)|skin(1)	4						CCCTCGCCGTCGCACGTGCGC	0.697													T	180904388	C	T	180904388	3	4	104	1	0	0	0	0	1	0	0	0	8248	893	31	1	1361	1	KIAA1614	1	180904388	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1339471	180904388	68346233	547	67161											
STX6	10228	broad.mit.edu	37	chr1	180962512	180962512	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctcacctgtctattttttCtttcagctaatgcctgcaca	4	12	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:180962512C>A	uc010pnq.1	-	4	587	c.350G>T	c.(349-351)AGA>ATA	p.R117I	STX6_uc001goo.2_Missense_Mutation_p.R117I|STX6_uc010pnr.1_Missense_Mutation_p.R16I	NM_005819	NP_005810	O43752	STX6_HUMAN	syntaxin 6	117	Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			ovary(1)	1						TCTATTTTTTCTTTCAGCTAA	0.313													A	180962512	C	A	180962512	3	1	104	1	0	0	0	0	1	0	0	0	15348	913	32	5	437	5	STX6	1	180962512	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	58124	180962512	68288109	548	67162											
CACNA1E	777	broad.mit.edu	37	chr1	181684518	181684518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaaaatgctggaacatccGccttagaaggtaaggaaatg	10	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:181684518G>A	uc001gow.2	+	9	1381	c.1216G>A	c.(1216-1218)GCC>ACC	p.A406T	CACNA1E_uc009wxs.2_Missense_Mutation_p.A313T	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	406	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TGGAACATCCGCCTTAGAAGG	0.378													A	181684518	G	A	181684518	3	1	104	1	0	0	0	0	1	0	0	0	2542	1087	38	1	1250	1	CACNA1E	1	181684518	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	722006	181684518	67566103	549	67163											
RNASEL	6041	broad.mit.edu	37	chr1	182555419	182555419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgtgtcctttttcagcagCgtccatgagagctgtggccc	11	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:182555419C>T	uc001gpj.1	-	1	690	c.523G>A	c.(523-525)GCT>ACT	p.A175T	RNASEL_uc009wxz.1_Missense_Mutation_p.A175T|RNASEL_uc001gpk.2_Missense_Mutation_p.A175T|RNASEL_uc009wya.1_Missense_Mutation_p.A175T	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L	175	ANK 5.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			ovary(4)|stomach(1)	5						TTTTCAGCAGCGTCCATGAGA	0.473									Hereditary_Prostate_Cancer				T	182555419	C	T	182555419	3	4	104	1	0	0	0	0	1	0	0	0	13416	768	27	1	1726	1	RNASEL	1	182555419	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	870901	182555419	66695202	550	67164											
NPL	80896	broad.mit.edu	37	chr1	182798041	182798041	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacttggaagctggtagcTagtgcctctctatcaaatca	9	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:182798041T>G	uc009wyb.2	+	13	1101	c.961T>G	c.(961-963)TAG>GAG	p.*321E	NPL_uc010pny.1_RNA|NPL_uc001gpo.1_Nonstop_Mutation_p.*302E|NPL_uc009wyc.2_Intron|NPL_uc001gpp.3_Intron|NPL_uc001gpq.1_Nonstop_Mutation_p.*321E	NM_030769	NP_110396	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase	321					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			ovary(1)|central_nervous_system(1)|skin(1)	3						AGCTGGTAGCTAGTGCCTCTC	0.393													G	182798041	T	G	182798041	4	3	104	1	0	0	0	0	0	0	0	0	10585	1535	53	5	1003	5	NPL	1	182798041	Nonstop_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	242622	182798041	66452580	551	67165											
C1orf14	81626	broad.mit.edu	37	chr1	182908317	182908317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaaattattaccggaggCgtaaatcttcccacattttc	7	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:182908317C>T	uc001gpu.2	-	5	1355	c.1070G>A	c.(1069-1071)CGC>CAC	p.R357H	C1orf14_uc001gpv.2_Missense_Mutation_p.R238H|C1orf14_uc010pnz.1_Missense_Mutation_p.R215H|C1orf14_uc001gpw.2_Missense_Mutation_p.R77H	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	429											0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)		TTACCGGAGGCGTAAATCTTC	0.333													T	182908317	C	T	182908317	3	4	104	1	0	0	0	0	1	0	0	0	2000	768	27	1	915	1	C1orf14	1	182908317	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	110276	182908317	66342304	552	67166											
LAMC1	3915	broad.mit.edu	37	chr1	183085943	183085943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggaatcatctaatcctcGgggttgcacaccctgcttct	8	13	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:183085943G>A	uc001gpy.3	+	8	1726	c.1469G>A	c.(1468-1470)CGG>CAG	p.R490Q		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	490	Laminin EGF-like 4.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTAATCCTCGGGGTTGCACA	0.373													A	183085943	G	A	183085943	3	1	104	1	0	0	0	0	1	0	0	0	8614	1116	39	1	1499	1	LAMC1	1	183085943	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	177626	183085943	66164678	553	67167											
LAMC1	3915	broad.mit.edu	37	chr1	183091010	183091010	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagaagagaaactcctaatCttggaccatacagtccatgt	7	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:183091010C>T	uc001gpy.3	+	12	2400	c.2143C>T	c.(2143-2145)CTT>TTT	p.L715F		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	715	Laminin EGF-like 5; second part.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACTCCTAATCTTGGACCATA	0.512													T	183091010	C	T	183091010	3	4	104	1	0	0	0	0	1	0	0	0	8614	913	32	4	2189	4	LAMC1	1	183091010	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5067	183091010	66159611	554	67168											
LAMC1	3915	broad.mit.edu	37	chr1	183111855	183111855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagatcatgaaggacattcGcaatctggaggacatcagga	13	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:183111855G>A	uc001gpy.3	+	28	5017	c.4760G>A	c.(4759-4761)CGC>CAC	p.R1587H		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	1587	Potential.|Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGGACATTCGCAATCTGGAG	0.502													A	183111855	G	A	183111855	3	1	104	1	0	0	0	0	1	0	0	0	8614	1087	38	1	4870	1	LAMC1	1	183111855	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	20845	183111855	66138766	555	67169											
NMNAT2	23057	broad.mit.edu	37	chr1	183259293	183259293	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggtggtgttccaacacGctgcaggtcgtctgccaggt	13	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:183259293G>A	uc001gqc.1	-	4	626	c.291C>T	c.(289-291)AGC>AGT	p.S97S	NMNAT2_uc001gqb.1_Silent_p.S92S|NMNAT2_uc001gqd.2_5'UTR	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN	nicotinamide mononucleotide adenylyltransferase	97					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			skin(1)	1						GTTCCAACACGCTGCAGGTCG	0.572													A	183259293	G	A	183259293	2	1	104	1	0	0	0	0	0	0	0	1	10499	1078	38	1		1	NMNAT2	1	183259293	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	147438	183259293	65991328	556	67170											
NCF2	4688	broad.mit.edu	37	chr1	183538297	183538297	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgaagatctctggggttttCggtctgggtggaggctcagc	16	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:183538297C>T	uc001gqj.3	-	7	968	c.693G>A	c.(691-693)CCG>CCA	p.P231P	NCF2_uc010pod.1_Silent_p.P186P|NCF2_uc010poe.1_Silent_p.P150P|NCF2_uc001gqk.3_Silent_p.P231P	NM_000433	NP_000424	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	231					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			ovary(3)	3						CTGGGGTTTTCGGTCTGGGTG	0.473													T	183538297	C	T	183538297	2	4	104	1	0	0	0	0	0	0	0	1	10217	871	31	1		1	NCF2	1	183538297	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	279004	183538297	65712324	557	67171											
RGL1	23179	broad.mit.edu	37	chr1	183816872	183816872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaacgtacagaggctttgCctccactaaagaagtgctgg	10	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:183816872C>T	uc001gqo.2	+	3	468	c.311C>T	c.(310-312)GCC>GTC	p.A104V	RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Missense_Mutation_p.A139V|RGL1_uc010pog.1_Missense_Mutation_p.A102V|RGL1_uc010poh.1_Missense_Mutation_p.A102V|RGL1_uc010poi.1_Missense_Mutation_p.A104V	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	104	N-terminal Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|ovary(4)|lung(2)	11						AGAGGCTTTGCCTCCACTAAA	0.458													T	183816872	C	T	183816872	3	4	104	1	0	0	0	0	1	0	0	0	13276	739	26	2	426	2	RGL1	1	183816872	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	278575	183816872	65433749	558	67172											
RGL1	23179	broad.mit.edu	37	chr1	183861216	183861216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatcccttttcatagggaccGaatgctgatgtttgaagaac	9	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:183861216G>A	uc001gqo.2	+	9	1218	c.1061G>A	c.(1060-1062)CGA>CAA	p.R354Q	RGL1_uc010pof.1_Missense_Mutation_p.R159Q|RGL1_uc001gqm.2_Missense_Mutation_p.R389Q|RGL1_uc010pog.1_Missense_Mutation_p.R352Q|RGL1_uc010poh.1_Missense_Mutation_p.R352Q|RGL1_uc010poi.1_Missense_Mutation_p.R354Q	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	354	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|ovary(4)|lung(2)	11						CATAGGGACCGAATGCTGATG	0.428													A	183861216	G	A	183861216	3	1	104	1	0	0	0	0	1	0	0	0	13276	1058	37	1	1200	1	RGL1	1	183861216	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	44344	183861216	65389405	559	67173											
RGL1	23179	broad.mit.edu	37	chr1	183873985	183873985	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtattctgtctgctttaggAatttgaagtgattgcccaga	11	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:183873985A>C	uc001gqo.2	+	13	1509	c.1352A>C	c.(1351-1353)GAA>GCA	p.E451A	RGL1_uc010pof.1_Missense_Mutation_p.E256A|RGL1_uc001gqm.2_Missense_Mutation_p.E486A|RGL1_uc010pog.1_Missense_Mutation_p.E449A|RGL1_uc010poh.1_Missense_Mutation_p.E449A|RGL1_uc010poi.1_Missense_Mutation_p.E422A	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	451	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|ovary(4)|lung(2)	11						CTGCTTTAGGAATTTGAAGTG	0.378													C	183873985	A	C	183873985	3	2	104	1	0	0	0	0	1	0	0	0	13276	260	9	5	1507	5	RGL1	1	183873985	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	12769	183873985	65376636	560	67174											
GLT25D2	23127	broad.mit.edu	37	chr1	183909901	183909901	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctggctcctttacttgcAtcctcttcctaccaatataa	3	14	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:183909901A>G	uc001gqr.2	-	11	1790	c.1418T>C	c.(1417-1419)ATG>ACG	p.M473T	GLT25D2_uc010poj.1_Missense_Mutation_p.M473T|GLT25D2_uc001gqp.2_Missense_Mutation_p.M81T|GLT25D2_uc001gqq.2_Missense_Mutation_p.M210T|GLT25D2_uc001gqs.2_Missense_Mutation_p.M353T	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	473					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						CTTTACTTGCATCCTCTTCCT	0.463													G	183909901	A	G	183909901	3	3	104	1	0	0	0	0	1	0	0	0	6467	217	8	3	470	3	GLT25D2	1	183909901	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	35916	183909901	65340720	561	67175											
GLT25D2	23127	broad.mit.edu	37	chr1	183913357	183913357	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagtccagctgagcctggTcaatgttatccatcagcttc	8	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:183913357T>C	uc001gqr.2	-	10	1742	c.1370A>G	c.(1369-1371)GAC>GGC	p.D457G	GLT25D2_uc010poj.1_Missense_Mutation_p.D457G|GLT25D2_uc001gqp.2_Missense_Mutation_p.D65G|GLT25D2_uc001gqq.2_Missense_Mutation_p.D194G|GLT25D2_uc001gqs.2_Missense_Mutation_p.D337G	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	457					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						CTGAGCCTGGTCAATGTTATC	0.473													C	183913357	T	C	183913357	3	2	104	1	0	0	0	0	1	0	0	0	6467	1667	58	3	522	3	GLT25D2	1	183913357	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	3456	183913357	65337264	562	67176											
EDEM3	80267	broad.mit.edu	37	chr1	184677372	184677372	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgggtgggaaacaattTgtacagctcgtggaggcagc	14	6	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:184677372T>G	uc010pok.1	-	17	2213	c.1952A>C	c.(1951-1953)CAA>CCA	p.Q651P	EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.Q651P	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	651					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1						GGAAACAATTTGTACAGCTCG	0.438													G	184677372	T	G	184677372	3	3	104	1	0	0	0	0	1	0	0	0	4913	1812	63	5	862	5	EDEM3	1	184677372	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	764015	184677372	64573249	563	67177											
EDEM3	80267	broad.mit.edu	37	chr1	184688582	184688582	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaattctttatacctgcaAgcctgggaagaaggcaagca	10	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:184688582A>G	uc010pok.1	-	10	1333	c.1072T>C	c.(1072-1074)TTG>CTG	p.L358L	EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Silent_p.L358L	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	358					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1						TATACCTGCAAGCCTGGGAAG	0.383													G	184688582	A	G	184688582	2	3	104	1	0	0	0	0	0	0	0	1	4913	69	3	3		3	EDEM3	1	184688582	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	11210	184688582	64562039	564	67178											
RNF2	6045	broad.mit.edu	37	chr1	185056762	185056762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtttatatgagttacaacGaacacctcaggtaatgacta	7	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:185056762G>A	uc001grc.1	+	2	310	c.77G>A	c.(76-78)CGA>CAA	p.R26Q	RNF2_uc001grd.1_Missense_Mutation_p.R26Q	NM_007212	NP_009143	Q99496	RING2_HUMAN	ring finger protein 2	26	Interaction with HIP2.				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(1)	1		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		GAGTTACAACGAACACCTCAG	0.383													A	185056762	G	A	185056762	3	1	104	1	0	0	0	0	1	0	0	0	13472	1058	37	1	79	1	RNF2	1	185056762	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	368180	185056762	64193859	565	67179											
C1orf25	81627	broad.mit.edu	37	chr1	185121027	185121027	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcagttacaaaagctaaattCtctagatcagcaagctgcct	6	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:185121027C>A	uc001grf.3	-	2	548	c.276G>T	c.(274-276)GAG>GAT	p.E92D	C1orf25_uc010pon.1_5'UTR	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA	92						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0						AAGCTAAATTCTCTAGATCAG	0.323													A	185121027	C	A	185121027	3	1	104	1	0	0	0	0	1	0	0	0	2034	912	32	5	1981	5	C1orf25	1	185121027	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	64265	185121027	64129594	566	67180											
C1orf26	54823	broad.mit.edu	37	chr1	185143597	185143597	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagcatcatattcaaaTgataatcaaattattttgca	4	5	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:185143597T>C	uc001grg.3	+	5	432	c.318T>C	c.(316-318)AAT>AAC	p.N106N	C1orf26_uc001grh.3_Silent_p.N106N	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN	hypothetical protein LOC54823	106											0						CATATTCAAATGATAATCAAA	0.308													C	185143597	T	C	185143597	2	2	104	1	0	0	0	0	0	0	0	1	2035	1461	51	3		3	C1orf26	1	185143597	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	22570	185143597	64107024	567	67181											
C1orf26	54823	broad.mit.edu	37	chr1	185175889	185175889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcctatacaaaaatctcCgtaaaggtatgaatctttta	6	7	2	2	rs145355483		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:185175889C>T	uc001grg.3	+	13	2080	c.1966C>T	c.(1966-1968)CGT>TGT	p.R656C	C1orf26_uc001grh.3_Missense_Mutation_p.R656C	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN	hypothetical protein LOC54823	656											0						CAAAAATCTCCGTAAAGGTAT	0.303													T	185175889	C	T	185175889	3	4	104	1	0	0	0	0	1	0	0	0	2035	652	23	1	2012	1	C1orf26	1	185175889	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	32292	185175889	64074732	568	67182											
C1orf26	54823	broad.mit.edu	37	chr1	185183737	185183737	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtcaaattatgatggtattCttccacagacctttgctcaa	7	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:185183737C>A	uc001grg.3	+	14	2185	c.2071C>A	c.(2071-2073)CTT>ATT	p.L691I	C1orf26_uc001grh.3_Missense_Mutation_p.L691I	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN	hypothetical protein LOC54823	691											0						TGATGGTATTCTTCCACAGAC	0.378													A	185183737	C	A	185183737	3	1	104	1	0	0	0	0	1	0	0	0	2035	913	32	5	2121	5	C1orf26	1	185183737	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7848	185183737	64066884	569	67183											
C1orf26	54823	broad.mit.edu	37	chr1	185191052	185191052	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caggaaggtacttcattgaaGaattctcataatcaagaaat	7	6	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:185191052G>T	uc001grg.3	+	15	2307	c.2193G>T	c.(2191-2193)AAG>AAT	p.K731N	C1orf26_uc001grh.3_Missense_Mutation_p.K731N	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN	hypothetical protein LOC54823	731											0						CTTCATTGAAGAATTCTCATA	0.373													T	185191052	G	T	185191052	3	4	104	1	0	0	0	0	1	0	0	0	2035	933	33	5	2247	5	C1orf26	1	185191052	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	7315	185191052	64059569	570	67184											
IVNS1ABP	10625	broad.mit.edu	37	chr1	185267253	185267253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attcagaaattcattgccatCgaatcctcccactgcataaa	4	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:185267253C>T	uc001grl.2	-	15	2466	c.1843G>A	c.(1843-1845)GAT>AAT	p.D615N	IVNS1ABP_uc001gri.2_Missense_Mutation_p.D275N|IVNS1ABP_uc001grj.2_Missense_Mutation_p.D275N|IVNS1ABP_uc009wyj.2_Missense_Mutation_p.D397N|IVNS1ABP_uc009wyk.2_RNA	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	615	Kelch 6.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				ovary(4)|central_nervous_system(1)	5						TCATTGCCATCGAATCCTCCC	0.398													T	185267253	C	T	185267253	3	4	104	1	0	0	0	0	1	0	0	0	7930	884	31	1	89	1	IVNS1ABP	1	185267253	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	76201	185267253	63983368	571	67185											
HMCN1	83872	broad.mit.edu	37	chr1	185892598	185892598	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcttcttgaacttttgagTatctcaggaagttctcttaa	7	7	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:185892598T>C	uc001grq.1	+	8	1327	c.1098T>C	c.(1096-1098)AGT>AGC	p.S366S		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	366					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AACTTTTGAGTATCTCAGGAA	0.353													C	185892598	T	C	185892598	2	2	104	1	0	0	0	0	0	0	0	1	7220	1635	57	3		3	HMCN1	1	185892598	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	625345	185892598	63358023	572	67186											
HMCN1	83872	broad.mit.edu	37	chr1	185892648	185892648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttaaatattacccacatcGaaaaccttatggcatatgga	6	8	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:185892648G>A	uc001grq.1	+	8	1377	c.1148G>A	c.(1147-1149)CGA>CAA	p.R383Q		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	383					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TACCCACATCGAAAACCTTAT	0.358													A	185892648	G	A	185892648	3	1	104	1	0	0	0	0	1	0	0	0	7220	1058	37	1	1178	1	HMCN1	1	185892648	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	50	185892648	63357973	573	67187											
HMCN1	83872	broad.mit.edu	37	chr1	185950199	185950199	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacaacagtaacagtgaccGgacttggtaagatcaattga	10	7	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:185950199G>T	uc001grq.1	+	17	2885	c.2656G>T	c.(2656-2658)GGA>TGA	p.G886*	HMCN1_uc001grr.1_Nonsense_Mutation_p.G227*	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	886					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AACAGTGACCGGACTTGGTAA	0.383													T	185950199	G	T	185950199	4	4	104	1	0	0	0	0	0	1	0	0	7220	1117	39	5	2722	5	HMCN1	1	185950199	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	57551	185950199	63300422	574	67188											
HMCN1	83872	broad.mit.edu	37	chr1	185953431	185953431	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaccaataacaaaactacctCtgtggttgtgcatggtaaga	9	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:185953431C>A	uc001grq.1	+	19	3150	c.2921C>A	c.(2920-2922)TCT>TAT	p.S974Y	HMCN1_uc001grr.1_Missense_Mutation_p.S315Y	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	974	Ig-like C2-type 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AAAACTACCTCTGTGGTTGTG	0.398													A	185953431	C	A	185953431	3	1	104	1	0	0	0	0	1	0	0	0	7220	913	32	5	2995	5	HMCN1	1	185953431	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3232	185953431	63297190	575	67189											
HMCN1	83872	broad.mit.edu	37	chr1	186063435	186063435	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagctcaggtgtctgatgtCgctgtgtatacttgtgtggc	14	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:186063435C>T	uc001grq.1	+	67	10453	c.10224C>T	c.(10222-10224)GTC>GTT	p.V3408V		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3408	Ig-like C2-type 32.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TGTCTGATGTCGCTGTGTATA	0.388													T	186063435	C	T	186063435	2	4	104	1	0	0	0	0	0	0	0	1	7220	871	31	1		1	HMCN1	1	186063435	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	110004	186063435	63187186	576	67190											
HMCN1	83872	broad.mit.edu	37	chr1	186084048	186084048	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccaccaatgctgctggaacaGatcgcaggcgaatagattta	10	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:186084048G>T	uc001grq.1	+	74	11603	c.11374G>T	c.(11374-11376)GAT>TAT	p.D3792Y		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3792	Ig-like C2-type 36.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TGCTGGAACAGATCGCAGGCG	0.423													T	186084048	G	T	186084048	3	4	104	1	0	0	0	0	1	0	0	0	7220	942	33	5	11668	5	HMCN1	1	186084048	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	20613	186084048	63166573	577	67191											
HMCN1	83872	broad.mit.edu	37	chr1	186092119	186092119	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctcatctaaaggaatatgTtattgctgtggacaagccca	8	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:186092119T>C	uc001grq.1	+	81	12495	c.12266T>C	c.(12265-12267)GTT>GCT	p.V4089A		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4089	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AAGGAATATGTTATTGCTGTG	0.403													C	186092119	T	C	186092119	3	2	104	1	0	0	0	0	1	0	0	0	7220	1725	60	3	12588	3	HMCN1	1	186092119	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	8071	186092119	63158502	578	67192											
HMCN1	83872	broad.mit.edu	37	chr1	186151325	186151325	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatgtgaaaatacagaTgcctgccagcatgagtgtaa	11	6	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:186151325T>C	uc001grq.1	+	105	16549	c.16320T>C	c.(16318-16320)GAT>GAC	p.D5440D	HMCN1_uc001grs.1_Silent_p.D892D	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5440	EGF-like 7; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AAAATACAGATGCCTGCCAGC	0.428													C	186151325	T	C	186151325	2	2	104	1	0	0	0	0	0	0	0	1	7220	1461	51	3		3	HMCN1	1	186151325	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	59206	186151325	63099296	579	67193											
HMCN1	83872	broad.mit.edu	37	chr1	186157020	186157020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtgctgtccctagatatcGatgaatgtctggagcagaat	11	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:186157020G>A	uc001grq.1	+	106	16649	c.16420G>A	c.(16420-16422)GAT>AAT	p.D5474N	HMCN1_uc001grs.1_Missense_Mutation_p.D926N	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5474					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CCTAGATATCGATGAATGTCT	0.517													A	186157020	G	A	186157020	3	1	104	1	0	0	0	0	1	0	0	0	7220	1058	37	1	16842	1	HMCN1	1	186157020	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5695	186157020	63093601	580	67194											
HMCN1	83872	broad.mit.edu	37	chr1	186158953	186158953	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctacagtgccaatgggacCattgaatatcagaccacatt	7	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:186158953C>A	uc001grq.1	+	107	17080	c.16851C>A	c.(16849-16851)ACC>ACA	p.T5617T	HMCN1_uc001grs.1_Silent_p.T1069T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5617					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CCAATGGGACCATTGAATATC	0.443													A	186158953	C	A	186158953	2	1	104	1	0	0	0	0	0	0	0	1	7220	581	21	5		5	HMCN1	1	186158953	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1933	186158953	63091668	581	67195											
PRG4	10216	broad.mit.edu	37	chr1	186274033	186274033	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaattcagctgctaatagaGaattacagaagaaactcaaa	6	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:186274033G>T	uc001gru.3	+	6	628	c.577G>T	c.(577-579)GAA>TAA	p.E193*	PRG4_uc001grt.3_Nonsense_Mutation_p.E152*|PRG4_uc009wyl.2_Intron|PRG4_uc009wym.2_Intron|PRG4_uc010poo.1_RNA	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	193					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						TGCTAATAGAGAATTACAGAA	0.259													T	186274033	G	T	186274033	4	4	104	1	0	0	0	0	0	1	0	0	12481	943	33	5	595	5	PRG4	1	186274033	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	115080	186274033	62976588	582	67196											
PRG4	10216	broad.mit.edu	37	chr1	186277929	186277929	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacctcaaaagccaaccaaAgcacccaaaaaacccacttc	2	16	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:186277929A>C	uc001gru.3	+	7	3129	c.3078A>C	c.(3076-3078)AAA>AAC	p.K1026N	PRG4_uc001grt.3_Missense_Mutation_p.K985N|PRG4_uc009wyl.2_Missense_Mutation_p.K933N|PRG4_uc009wym.2_Missense_Mutation_p.K892N|PRG4_uc010poo.1_RNA	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	1026					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						AGCCAACCAAAGCACCCAAAA	0.418													C	186277929	A	C	186277929	3	2	104	1	0	0	0	0	1	0	0	0	12481	69	3	5	3100	5	PRG4	1	186277929	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	3896	186277929	62972692	583	67197											
TPR	7175	broad.mit.edu	37	chr1	186321231	186321231	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttttccttcttcaaattTtctgctcttacctaaacata	1	12	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:186321231T>G	uc001grv.2	-	19	2643	c.2346A>C	c.(2344-2346)GAA>GAC	p.E782D		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	782	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTTCAAATTTTCTGCTCTTA	0.313			T	NTRK1	papillary thyroid								G	186321231	T	G	186321231	3	3	104	1	0	0	0	0	1	0	0	0	16413	1838	64	5	4877	5	TPR	1	186321231	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	43302	186321231	62929390	584	67198											
PTGS2	5743	broad.mit.edu	37	chr1	186643844	186643844	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggatacagctccacagCatcgatgtcaccatagagtg	11	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:186643844C>A	uc001gsb.2	-	10	1593	c.1456G>T	c.(1456-1458)GCT>TCT	p.A486S	PTGS2_uc009wyo.2_Missense_Mutation_p.A333S	NM_000963	NP_000954	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 precursor	486					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|central_nervous_system(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	AGCTCCACAGCATCGATGTCA	0.468													A	186643844	C	A	186643844	3	1	104	1	0	0	0	0	1	0	0	0	12756	710	25	5	362	5	PTGS2	1	186643844	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	322613	186643844	62606777	585	67199											
FAM5C	339479	broad.mit.edu	37	chr1	190067455	190067455	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtagccaaacacttgaatgTtattgattttcatatagccc	6	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:190067455T>C	uc001gse.1	-	8	2226	c.1994A>G	c.(1993-1995)AAC>AGC	p.N665S	FAM5C_uc010pot.1_Missense_Mutation_p.N563S	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	665						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					CACTTGAATGTTATTGATTTT	0.458													C	190067455	T	C	190067455	3	2	104	1	0	0	0	0	1	0	0	0	5594	1725	60	3	310	3	FAM5C	1	190067455	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	3423611	190067455	59183166	586	67200											
FAM5C	339479	broad.mit.edu	37	chr1	190423785	190423785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttccctttgcttcatacCtgtatatcttgtatcttgtg	6	10	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:190423785C>T	uc001gse.1	-	2	468	c.236G>A	c.(235-237)AGG>AAG	p.R79K	FAM5C_uc010pot.1_Missense_Mutation_p.G41R	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	79						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					TGCTTCATACCTGTATATCTT	0.413													T	190423785	C	T	190423785	3	4	104	1	0	0	0	0	1	0	0	0	5594	695	24	4	2092	4	FAM5C	1	190423785	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	356330	190423785	58826836	587	67201											
TROVE2	6738	broad.mit.edu	37	chr1	193051378	193051378	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgatgaaatggtaccatgTccagtgactacagatatgac	9	9	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:193051378T>C	uc001gss.2	+	7	1441	c.1266T>C	c.(1264-1266)TGT>TGC	p.C422C	TROVE2_uc001gst.1_Silent_p.C147C|TROVE2_uc001gsu.1_Silent_p.C147C|TROVE2_uc001gsv.1_Silent_p.C422C|TROVE2_uc001gsw.2_Silent_p.C422C|TROVE2_uc009wyp.2_Silent_p.C422C|TROVE2_uc009wyq.2_Silent_p.C422C|TROVE2_uc001gsx.1_Silent_p.C422C	NM_004600	NP_004591	P10155	RO60_HUMAN	TROVE domain family, member 2 isoform 2	422					transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding				0						TGGTACCATGTCCAGTGACTA	0.343													C	193051378	T	C	193051378	2	2	104	1	0	0	0	0	0	0	0	1	16573	1673	58	3		3	TROVE2	1	193051378	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2627593	193051378	56199243	588	67202											
CDC73	79577	broad.mit.edu	37	chr1	193099338	193099338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtggttagaagacctgatcGaaaagatctacttggatatc	10	6	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:193099338G>A	uc001gtb.2	+	3	515	c.272G>A	c.(271-273)CGA>CAA	p.R91Q		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	91			R -> P (found in a patient with isolated hyperparathyroidism and parathyroid adenomas).		cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						AGACCTGATCGAAAAGATCTA	0.249									Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome				A	193099338	G	A	193099338	3	1	104	1	0	0	0	0	1	0	0	0	3085	1058	37	1	282	1	CDC73	1	193099338	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	47960	193099338	56151283	589	67203											
CDC73	79577	broad.mit.edu	37	chr1	193111184	193111184	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acacgaacaactatcttacaAagcacaggaaaggtaattaa	6	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:193111184A>C	uc001gtb.2	+	7	960	c.717A>C	c.(715-717)CAA>CAC	p.Q239H		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	239					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						CTATCTTACAAAGCACAGGAA	0.398									Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome				C	193111184	A	C	193111184	3	2	104	1	0	0	0	0	1	0	0	0	3085	11	1	5	743	5	CDC73	1	193111184	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	11846	193111184	56139437	590	67204											
B3GALT2	8707	broad.mit.edu	37	chr1	193150455	193150455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtttctttccaaatgttccGaagggagctgtggtttgtct	11	7	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:193150455G>A	uc001gtc.3	-	2	953	c.238C>T	c.(238-240)CGG>TGG	p.R80W	CDC73_uc001gtb.2_Intron	NM_003783	NP_003774	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta	80	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)	1						CAAATGTTCCGAAGGGAGCTG	0.478													A	193150455	G	A	193150455	3	1	104	1	0	0	0	0	1	0	0	0	1248	1057	37	1	1034	1	B3GALT2	1	193150455	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	39271	193150455	56100166	591	67205											
KCNT2	343450	broad.mit.edu	37	chr1	196303054	196303054	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaagatcacatgtttgaatCgatgatgtatctgcaacctc	8	8	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:196303054C>T	uc001gtd.1	-	17	1980	c.1920G>A	c.(1918-1920)TCG>TCA	p.S640S	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.S590S|KCNT2_uc001gtf.1_Silent_p.S640S|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.S640S|KCNT2_uc001gth.1_Silent_p.S161S	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	640	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						ATGTTTGAATCGATGATGTAT	0.408													T	196303054	C	T	196303054	2	4	104	1	0	0	0	0	0	0	0	1	8092	871	31	1		1	KCNT2	1	196303054	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3152599	196303054	52947567	592	67206											
KCNT2	343450	broad.mit.edu	37	chr1	196438181	196438181	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgaagggtattcgtaaaatCtgttcccagatgtttccctt	8	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:196438181C>T	uc001gtd.1	-	6	462	c.402G>A	c.(400-402)CAG>CAA	p.Q134Q	KCNT2_uc009wyt.1_5'Flank|KCNT2_uc001gte.1_Silent_p.Q134Q|KCNT2_uc001gtf.1_Silent_p.Q134Q|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.Q134Q|KCNT2_uc009wyv.1_Intron	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	134	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						TTCGTAAAATCTGTTCCCAGA	0.328													T	196438181	C	T	196438181	2	4	104	1	0	0	0	0	0	0	0	1	8092	912	32	4		4	KCNT2	1	196438181	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	135127	196438181	52812440	593	67207											
CFH	3075	broad.mit.edu	37	chr1	196648758	196648758	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcccttttatttagaaattTcatgcaaatccccagatgtt	4	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:196648758T>G	uc001gtj.3	+	6	865	c.625T>G	c.(625-627)TCA>GCA	p.S209A	CFH_uc001gti.3_Missense_Mutation_p.S209A|CFH_uc009wyw.2_Missense_Mutation_p.S209A|CFH_uc009wyx.2_Missense_Mutation_p.S145A	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	209	Sushi 4.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						TTTAGAAATTTCATGCAAATC	0.289													G	196648758	T	G	196648758	3	3	104	1	0	0	0	0	1	0	0	0	3283	1783	62	5	647	5	CFH	1	196648758	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	210577	196648758	52601863	594	67208											
CFH	3075	broad.mit.edu	37	chr1	196716413	196716413	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaacatgttgggatgggaaActggagtatccaacttgtgc	12	7	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:196716413A>G	uc001gtj.3	+	22	3906	c.3666A>G	c.(3664-3666)AAA>AAG	p.K1222K		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	1222	Sushi 20.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						GGGATGGGAAACTGGAGTATC	0.348													G	196716413	A	G	196716413	2	3	104	1	0	0	0	0	0	0	0	1	3283	40	2	3		3	CFH	1	196716413	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	67655	196716413	52534208	595	67209											
CFHR5	81494	broad.mit.edu	37	chr1	196952070	196952070	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctgtatgatgaagaagaTtataaccctttttcccaagt	6	7	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:196952070T>G	uc001gts.3	+	2	242	c.114T>G	c.(112-114)GAT>GAG	p.D38E		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	38	Sushi 1.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						ATGAAGAAGATTATAACCCTT	0.333													G	196952070	T	G	196952070	3	3	104	1	0	0	0	0	1	0	0	0	3288	1490	52	5	120	5	CFHR5	1	196952070	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	235657	196952070	52298551	596	67210											
CFHR5	81494	broad.mit.edu	37	chr1	196964986	196964986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaacgggcctaagaaaatAcaatgtgtggatggagaatg	12	4	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:196964986A>G	uc001gts.3	+	5	875	c.747A>G	c.(745-747)ATA>ATG	p.I249M		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	249	Sushi 4.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						CTAAGAAAATACAATGTGTGG	0.313													G	196964986	A	G	196964986	3	3	104	1	0	0	0	0	1	0	0	0	3288	381	14	3	765	3	CFHR5	1	196964986	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	12916	196964986	52285635	597	67211											
CFHR5	81494	broad.mit.edu	37	chr1	196977700	196977700	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggaaaactctatgcaaaaAcaggggatgctgttgaattc	10	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:196977700A>G	uc001gts.3	+	10	1725	c.1597A>G	c.(1597-1599)ACA>GCA	p.T533A		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	533	Sushi 9.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						CTATGCAAAAACAGGGGATGC	0.368													G	196977700	A	G	196977700	3	3	104	1	0	0	0	0	1	0	0	0	3288	43	2	3	1635	3	CFHR5	1	196977700	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	12714	196977700	52272921	598	67212											
F13B	2165	broad.mit.edu	37	chr1	197021915	197021915	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcccttcatatttccacttCatttctatgttatttctgtt	2	10	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:197021915C>A	uc001gtt.1	-	9	1448	c.1404G>T	c.(1402-1404)ATG>ATT	p.M468I		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	468	Sushi 8.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						ATTTCCACTTCATTTCTATGT	0.294													A	197021915	C	A	197021915	3	1	104	1	0	0	0	0	1	0	0	0	5341	826	29	5	597	5	F13B	1	197021915	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	44215	197021915	52228706	599	67213											
ASPM	259266	broad.mit.edu	37	chr1	197057536	197057536	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctatacaattttctacatcAtaaactgctgaagtagtttt	4	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:197057536A>G	uc001gtu.2	-	26	10268	c.10011T>C	c.(10009-10011)TAT>TAC	p.Y3337Y	ASPM_uc001gtv.2_Silent_p.Y1752Y|ASPM_uc001gtw.3_Silent_p.Y1185Y	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	3337					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TTTCTACATCATAAACTGCTG	0.313													G	197057536	A	G	197057536	2	3	104	1	0	0	0	0	0	0	0	1	1056	224	8	3		3	ASPM	1	197057536	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	35621	197057536	52193085	600	67214											
ASPM	259266	broad.mit.edu	37	chr1	197069802	197069802	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagtgatagcagctcttTtctgctgaacaaatcttctc	7	9	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:197069802T>G	uc001gtu.2	-	18	8836	c.8579A>C	c.(8578-8580)AAA>ACA	p.K2860T	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.K708T	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2860	IQ 32.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						AGCAGCTCTTTTCTGCTGAAC	0.393													G	197069802	T	G	197069802	3	3	104	1	0	0	0	0	1	0	0	0	1056	1841	64	5	1898	5	ASPM	1	197069802	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	12266	197069802	52180819	601	67215											
ASPM	259266	broad.mit.edu	37	chr1	197112287	197112287	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaaagaatctggacttaaAattttctgataaatttcatg	6	4	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:197112287A>C	uc001gtu.2	-	3	1352	c.1095T>G	c.(1093-1095)ATT>ATG	p.I365M	ASPM_uc001gtv.2_Missense_Mutation_p.I365M|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	365					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						CTGGACTTAAAATTTTCTGAT	0.284													C	197112287	A	C	197112287	3	2	104	1	0	0	0	0	1	0	0	0	1056	10	1	5	9442	5	ASPM	1	197112287	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	42485	197112287	52138334	602	67216											
ZBTB41	360023	broad.mit.edu	37	chr1	197145707	197145707	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtatacctgaatgtattttTttgtgctttgtaaggtgatc	10	4	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:197145707T>A	uc001gtx.1	-	7	1935	c.1866A>T	c.(1864-1866)AAA>AAT	p.K622N	ZBTB41_uc009wyz.1_RNA	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	622	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						AATGTATTTTTTTGTGCTTTG	0.303													A	197145707	T	A	197145707	3	1	104	1	0	0	0	0	1	0	0	0	17540	1838	64	5	879	5	ZBTB41	1	197145707	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	33420	197145707	52104914	603	67217											
ZBTB41	360023	broad.mit.edu	37	chr1	197169588	197169588	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagatttgaagtaacctTtctcctcttcttcattgcag	5	11	5	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:197169588T>G	uc001gtx.1	-	1	85	c.16A>C	c.(16-18)AAG>CAG	p.K6Q	ZBTB41_uc009wyz.1_RNA|CRB1_uc010poz.1_5'Flank	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						GAAGTAACCTTTCTCCTCTTC	0.363													G	197169588	T	G	197169588	3	3	104	1	0	0	0	0	1	0	0	0	17540	1850	64	5	2753	5	ZBTB41	1	197169588	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	23881	197169588	52081033	604	67218											
CRB1	23418	broad.mit.edu	37	chr1	197316596	197316596	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgttgacaattacacttgTcactgctggcctggtgagtg	12	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:197316596T>C	uc001gtz.2	+	4	1110	c.975T>C	c.(973-975)TGT>TGC	p.C325C	CRB1_uc010poz.1_Silent_p.C256C|CRB1_uc001gty.1_Silent_p.C325C|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Intron|CRB1_uc010ppb.1_Silent_p.C325C|CRB1_uc010ppc.1_RNA	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	325	Extracellular (Potential).|EGF-like 8.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						ATTACACTTGTCACTGCTGGC	0.378													C	197316596	T	C	197316596	2	2	104	1	0	0	0	0	0	0	0	1	3848	1673	58	3		3	CRB1	1	197316596	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	147008	197316596	51934025	605	67219											
CRB1	23418	broad.mit.edu	37	chr1	197404523	197404523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggaaacactgtgaactcaAcatcgatgaatgcttttcaa	8	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:197404523A>G	uc001gtz.2	+	9	3665	c.3530A>G	c.(3529-3531)AAC>AGC	p.N1177S	CRB1_uc010poz.1_Missense_Mutation_p.N1153S|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.N1065S|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.N658S|CRB1_uc001gub.1_Missense_Mutation_p.N826S	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	1177	EGF-like 16; calcium-binding (Potential).|Extracellular (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						TGTGAACTCAACATCGATGAA	0.483													G	197404523	A	G	197404523	3	3	104	1	0	0	0	0	1	0	0	0	3848	43	2	3	3564	3	CRB1	1	197404523	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	87927	197404523	51846098	606	67220											
LHX9	56956	broad.mit.edu	37	chr1	197896799	197896799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagaagaccaagcgcatgcGaacctctttcaagcatcacc	8	14	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:197896799G>A	uc001guk.1	+	4	1249	c.812G>A	c.(811-813)CGA>CAA	p.R271Q	LHX9_uc001gui.1_Missense_Mutation_p.R262Q|LHX9_uc001guj.1_Missense_Mutation_p.R277Q	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	271	Homeobox.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						AAGCGCATGCGAACCTCTTTC	0.522													A	197896799	G	A	197896799	3	1	104	1	0	0	0	0	1	0	0	0	8777	1058	37	1	858	1	LHX9	1	197896799	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	492276	197896799	51353822	607	67221											
PTPRC	5788	broad.mit.edu	37	chr1	198687388	198687388	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcataagaattgcgattTccgtgtaaaagatcttcaat	8	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:198687388T>C	uc001gur.1	+	14	1790	c.1610T>C	c.(1609-1611)TTC>TCC	p.F537S	PTPRC_uc001gus.1_Missense_Mutation_p.F489S|PTPRC_uc001gut.1_Missense_Mutation_p.F376S|PTPRC_uc009wzf.1_Missense_Mutation_p.F425S|PTPRC_uc010ppg.1_Missense_Mutation_p.F473S	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	537	Extracellular (Potential).|Fibronectin type-III 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						AATTGCGATTTCCGTGTAAAA	0.383													C	198687388	T	C	198687388	3	2	104	1	0	0	0	0	1	0	0	0	12797	1783	62	3	1671	3	PTPRC	1	198687388	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	790589	198687388	50563233	608	67222											
FAM58B	339521	broad.mit.edu	37	chr1	200183373	200183373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtggcaggcgtttagtgacGaccttaccaagccaatcatt	11	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:200183373G>A	uc009wzi.1	+	1	718	c.682G>A	c.(682-684)GAC>AAC	p.D228N		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	family with sequence similarity 58 member B	228					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding				0	Prostate(682;0.19)					GTTTAGTGACGACCTTACCAA	0.547													A	200183373	G	A	200183373	3	1	104	1	0	0	0	0	1	0	0	0	5591	1058	37	1	684	1	FAM58B	1	200183373	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1495985	200183373	49067248	609	67223											
KIF14	9928	broad.mit.edu	37	chr1	200524575	200524575	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcattagttttcatttctTtggtaacctatagagaatgt	8	5	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:200524575T>C	uc010ppk.1	-	28	4800	c.4361A>G	c.(4360-4362)AAA>AGA	p.K1454R	KIF14_uc010ppj.1_Missense_Mutation_p.K963R	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	1454	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						TTTCATTTCTTTGGTAACCTA	0.259													C	200524575	T	C	200524575	3	2	104	1	0	0	0	0	1	0	0	0	8276	1841	64	3	597	3	KIF14	1	200524575	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	341202	200524575	48726046	610	67224											
KIF14	9928	broad.mit.edu	37	chr1	200573037	200573037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagatctattaggttaattCgacttgttattctgtgatcg	8	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:200573037C>T	uc010ppk.1	-	9	2232	c.1793G>A	c.(1792-1794)CGA>CAA	p.R598Q	KIF14_uc010ppj.1_Missense_Mutation_p.R107Q	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	598	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						TAGGTTAATTCGACTTGTTAT	0.368													T	200573037	C	T	200573037	3	4	104	1	0	0	0	0	1	0	0	0	8276	884	31	1	3241	1	KIF14	1	200573037	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	48462	200573037	48677584	611	67225											
KIF14	9928	broad.mit.edu	37	chr1	200587451	200587451	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaatctatttcagctgttTtccacttttctgcagaatct	5	10	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:200587451T>C	uc010ppk.1	-	2	840	c.401A>G	c.(400-402)AAA>AGA	p.K134R	KIF14_uc010ppj.1_5'UTR	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	134	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						TTCAGCTGTTTTCCACTTTTC	0.363													C	200587451	T	C	200587451	3	2	104	1	0	0	0	0	1	0	0	0	8276	1841	64	3	4661	3	KIF14	1	200587451	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	14414	200587451	48663170	612	67226											
DDX59	83479	broad.mit.edu	37	chr1	200613475	200613475	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtctgtttatctttctgTtgttcctttctcttctggtc	7	9	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:200613475T>G	uc009wzk.2	-	8	2010	c.1767A>C	c.(1765-1767)CAA>CAC	p.Q589H	DDX59_uc010ppl.1_Intron	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	589						intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			ovary(2)|breast(1)|central_nervous_system(1)	4						TATCTTTCTGTTGTTCCTTTC	0.368													G	200613475	T	G	200613475	3	3	104	1	0	0	0	0	1	0	0	0	4376	1722	60	5	96	5	DDX59	1	200613475	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	26024	200613475	48637146	613	67227											
DDX59	83479	broad.mit.edu	37	chr1	200619637	200619637	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acattggcacaaggtaggttCttttctccagtgataattct	8	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:200619637C>A	uc009wzk.2	-	5	1473	c.1230G>T	c.(1228-1230)AAG>AAT	p.K410N	DDX59_uc010ppl.1_Missense_Mutation_p.K410N	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	410						intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			ovary(2)|breast(1)|central_nervous_system(1)	4						AAGGTAGGTTCTTTTCTCCAG	0.378													A	200619637	C	A	200619637	3	1	104	1	0	0	0	0	1	0	0	0	4376	912	32	5	645	5	DDX59	1	200619637	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	6162	200619637	48630984	614	67228											
KIF21B	23046	broad.mit.edu	37	chr1	200944028	200944028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacacccagtccttgtgcGcattggggatttgctgtgag	13	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:200944028G>A	uc001gvs.1	-	34	4945	c.4628C>T	c.(4627-4629)GCG>GTG	p.A1543V	KIF21B_uc001gvr.1_Missense_Mutation_p.A1530V|KIF21B_uc009wzl.1_Missense_Mutation_p.A1543V|KIF21B_uc010ppn.1_Missense_Mutation_p.A1530V	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	1543	WD 6.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						GTCCTTGTGCGCATTGGGGAT	0.642													A	200944028	G	A	200944028	3	1	104	1	0	0	0	0	1	0	0	0	8289	1087	38	1	293	1	KIF21B	1	200944028	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	324391	200944028	48306593	615	67229											
CACNA1S	779	broad.mit.edu	37	chr1	201018159	201018159	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacccgatgtgggcagaacTtcccaaagcccagagggggc	13	13	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:201018159T>G	uc001gvv.2	-	35	4537	c.4310A>C	c.(4309-4311)AAG>ACG	p.K1437T		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1437	Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGGGCAGAACTTCCCAAAGCC	0.592													G	201018159	T	G	201018159	3	3	104	1	0	0	0	0	1	0	0	0	2547	1609	56	5	1351	5	CACNA1S	1	201018159	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	74131	201018159	48232462	616	67230											
IGFN1	91156	broad.mit.edu	37	chr1	201195200	201195200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccaagaatgagctggggGccagcaaaccctcggacacc	13	13	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:201195200G>A	uc001gwc.2	+	11	2987	c.2215G>A	c.(2215-2217)GCC>ACC	p.A739T	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						TGAGCTGGGGGCCAGCAAACC	0.677													A	201195200	G	A	201195200	3	1	104	1	0	0	0	0	1	0	0	0	7590	1203	42	2	10817	2	IGFN1	1	201195200	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	177041	201195200	48055421	617	67231											
TNNT2	7139	broad.mit.edu	37	chr1	201332436	201332436	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacctaccttctggatgtaAcccccaaaatgcatcatgtt	5	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:201332436A>G	uc001gwf.2	-	12	657	c.588T>C	c.(586-588)GGT>GGC	p.G196G	TNNT2_uc009wzn.2_5'Flank|TNNT2_uc009wzo.2_5'Flank|TNNT2_uc009wzp.2_5'Flank|TNNT2_uc001gwg.2_Silent_p.G186G|TNNT2_uc001gwh.2_Silent_p.G181G|TNNT2_uc001gwi.2_Silent_p.G156G|TNNT2_uc009wzr.2_Silent_p.G127G|TNNT2_uc001gwj.1_RNA|TNNT2_uc009wzs.1_Silent_p.G161G|TNNT2_uc001gwk.1_Silent_p.G127G|TNNT2_uc009wzt.1_Silent_p.G186G	NM_000364	NP_000355	P45379	TNNT2_HUMAN	troponin T type 2, cardiac isoform 1	196					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding				0						TCTGGATGTAACCCCCAAAAT	0.542													G	201332436	A	G	201332436	2	3	104	1	0	0	0	0	0	0	0	1	16328	30	2	3		3	TNNT2	1	201332436	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	137236	201332436	47918185	618	67232											
LMOD1	25802	broad.mit.edu	37	chr1	201869382	201869382	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccagttcctctttttaccttCtcatcctcctttttcatgtc	2	15	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:201869382C>A	uc001gxb.2	-	2	1007	c.759G>T	c.(757-759)GAG>GAT	p.E253D	LMOD1_uc010ppu.1_Missense_Mutation_p.E202D	NM_012134	NP_036266	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	253	8 X approximate tandem repeats.|6.				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			ovary(1)|pancreas(1)|skin(1)	3						TTTTTACCTTCTCATCCTCCT	0.393													A	201869382	C	A	201869382	3	1	104	1	0	0	0	0	1	0	0	0	8856	912	32	5	1051	5	LMOD1	1	201869382	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	536946	201869382	47381239	619	67233											
UBE2T	29089	broad.mit.edu	37	chr1	202301044	202301044	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgagttgtgtactctggaGtcaccagcctctggtagatt	12	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:202301044G>A	uc001gxx.3	-	7	649	c.513C>T	c.(511-513)GAC>GAT	p.D171D		NM_014176	NP_054895	Q9NPD8	UBE2T_HUMAN	ubiquitin-conjugating enzyme E2T	171					DNA repair|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	nucleoplasm	ATP binding|ubiquitin-protein ligase activity				0						GTACTCTGGAGTCACCAGCCT	0.453													A	202301044	G	A	202301044	2	1	104	1	0	0	0	0	0	0	0	1	16870	1020	36	4		4	UBE2T	1	202301044	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	431662	202301044	46949577	620	67234											
PPP1R12B	4660	broad.mit.edu	37	chr1	202418139	202418139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcctcacaaatcccaggccGacacaacagcagagaaaaca	6	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:202418139G>A	uc001gya.1	+	13	1834	c.1690G>A	c.(1690-1692)GAC>AAC	p.D564N	PPP1R12B_uc001gxz.1_Missense_Mutation_p.D564N	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	564					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			ATCCCAGGCCGACACAACAGC	0.478													A	202418139	G	A	202418139	3	1	104	1	0	0	0	0	1	0	0	0	12355	1058	37	1	1830	1	PPP1R12B	1	202418139	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	117095	202418139	46832482	621	67235											
KDM5B	10765	broad.mit.edu	37	chr1	202715102	202715102	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtagagatcatccagcgtgTacctatacctggaaataata	9	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:202715102T>C	uc001gyf.2	-	16	2323	c.2207A>G	c.(2206-2208)TAC>TGC	p.Y736C	KDM5B_uc009xag.2_Missense_Mutation_p.Y772C|KDM5B_uc001gyg.1_Missense_Mutation_p.Y578C	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	736					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						ATCCAGCGTGTACCTATACCT	0.418													C	202715102	T	C	202715102	3	2	104	1	0	0	0	0	1	0	0	0	8134	1638	57	3	2475	3	KDM5B	1	202715102	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	296963	202715102	46535519	622	67236											
TMEM183A	92703	broad.mit.edu	37	chr1	202977772	202977772	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttttattttcttctagtAaaatctctttgtggcttgga	6	7	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:202977772A>G	uc001gyu.1	+	3	259	c.201A>G	c.(199-201)GTA>GTG	p.V67V	TMEM183A_uc009xai.1_Silent_p.V67V|TMEM183A_uc001gyv.1_RNA|TMEM183A_uc001gyw.1_Silent_p.V67V|TMEM183A_uc001gyx.1_Silent_p.V67V	NM_001079809	NP_001073277	Q8IXX5	T183A_HUMAN	transmembrane protein 183B	67						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(75;0.18)			TTCTTCTAGTAAAATCTCTTT	0.478													G	202977772	A	G	202977772	2	3	104	1	0	0	0	0	0	0	0	1	16099	376	13	3		3	TMEM183A	1	202977772	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	262670	202977772	46272849	623	67237											
CHI3L1	1116	broad.mit.edu	37	chr1	203150382	203150382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgccaggctccatgaaaatCgtaggtcatgatgctaatga	10	9	1	3	rs141218577		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:203150382C>T	uc001gzi.2	-	7	790	c.619G>A	c.(619-621)GAT>AAT	p.D207N	FMOD_uc010pqi.1_Intron|CHI3L1_uc001gzk.1_Missense_Mutation_p.D4N|CHI3L1_uc001gzj.2_Missense_Mutation_p.D207N|CHI3L1_uc001gzl.3_5'Flank	NM_001276	NP_001267	P36222	CH3L1_HUMAN	chitinase 3-like 1 precursor	207	Chitooligosaccharide.				chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			pancreas(1)	1						CCATGAAAATCGTAGGTCATG	0.463													T	203150382	C	T	203150382	3	4	104	1	0	0	0	0	1	0	0	0	3340	884	31	1	548	1	CHI3L1	1	203150382	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	172610	203150382	46100239	624	67238											
ZC3H11A	9877	broad.mit.edu	37	chr1	203802956	203802956	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agattgagtcttactgagagActggggaaacgaaaattttc	11	5	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:203802956A>G	uc001hac.2	+	12	1465	c.849A>G	c.(847-849)AGA>AGG	p.R283R	ZC3H11A_uc001had.2_Silent_p.R283R|ZC3H11A_uc001hae.2_Silent_p.R283R|ZC3H11A_uc001haf.2_Silent_p.R283R|ZC3H11A_uc010pqm.1_Silent_p.R229R|ZC3H11A_uc001hag.1_Silent_p.R283R	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	283							nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTACTGAGAGACTGGGGAAAC	0.343													G	203802956	A	G	203802956	2	3	104	1	0	0	0	0	0	0	0	1	17557	272	10	3		3	ZC3H11A	1	203802956	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	652574	203802956	45447665	625	67239											
ZC3H11A	9877	broad.mit.edu	37	chr1	203807179	203807179	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaactaacattgacaaAacaccaaagaaaggtacctg	6	10	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:203807179A>C	uc001hac.2	+	13	1576	c.960A>C	c.(958-960)AAA>AAC	p.K320N	ZC3H11A_uc001had.2_Missense_Mutation_p.K320N|ZC3H11A_uc001hae.2_Missense_Mutation_p.K320N|ZC3H11A_uc001haf.2_Missense_Mutation_p.K320N|ZC3H11A_uc010pqm.1_Missense_Mutation_p.K266N|ZC3H11A_uc001hag.1_Missense_Mutation_p.K320N	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	320							nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACATTGACAAAACACCAAAGA	0.403													C	203807179	A	C	203807179	3	2	104	1	0	0	0	0	1	0	0	0	17557	11	1	5	994	5	ZC3H11A	1	203807179	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	4223	203807179	45443442	626	67240											
ZC3H11A	9877	broad.mit.edu	37	chr1	203820233	203820233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcagtcactgtgcctgaaGcagaaaatcctagagacagg	10	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:203820233G>A	uc001hac.2	+	19	2771	c.2155G>A	c.(2155-2157)GCA>ACA	p.A719T	ZC3H11A_uc001had.2_Missense_Mutation_p.A719T|ZC3H11A_uc001hae.2_Missense_Mutation_p.A719T|ZC3H11A_uc001haf.2_Missense_Mutation_p.A719T|ZC3H11A_uc010pqm.1_Missense_Mutation_p.A665T	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	719							nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTGCCTGAAGCAGAAAATCC	0.403													A	203820233	G	A	203820233	3	1	104	1	0	0	0	0	1	0	0	0	17557	971	34	2	2213	2	ZC3H11A	1	203820233	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13054	203820233	45430388	627	67241											
MDM4	4194	broad.mit.edu	37	chr1	204512067	204512067	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcaactgatttacagacaAatcaggtaaatttcacattt	5	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:204512067A>G	uc001hba.2	+	8	829	c.667A>G	c.(667-669)AAT>GAT	p.N223D	MDM4_uc001hbd.1_RNA|MDM4_uc010pqw.1_RNA|MDM4_uc010pqx.1_Missense_Mutation_p.N96D|MDM4_uc001hay.1_Missense_Mutation_p.N223D|MDM4_uc001hbb.2_Missense_Mutation_p.N96D|MDM4_uc010pqy.1_Intron|MDM4_uc001hbc.2_RNA|MDM4_uc009xbe.1_RNA	NM_002393	NP_002384	O15151	MDM4_HUMAN	mouse double minute 4 homolog	223					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TTTACAGACAAATCAGGTAAA	0.368			A		GBM|bladder|retinoblastoma								G	204512067	A	G	204512067	3	3	104	1	0	0	0	0	1	0	0	0	9414	14	1	3	693	3	MDM4	1	204512067	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	691834	204512067	44738554	628	67242											
NFASC	23114	broad.mit.edu	37	chr1	204978776	204978776	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggtgctgatcctgctcatCgtctgtttcatcaagaggag	11	10	4	2	rs150655555	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:204978776C>T	uc001hbj.2	+	28	3709	c.3381C>T	c.(3379-3381)ATC>ATT	p.I1127I	NFASC_uc010pra.1_Silent_p.I1061I|NFASC_uc001hbi.2_Silent_p.I1056I|NFASC_uc010prb.1_Silent_p.I1076I|NFASC_uc010prc.1_Silent_p.I627I|NFASC_uc001hbl.1_Silent_p.I203I|NFASC_uc001hbm.1_Silent_p.I150I|NFASC_uc009xbh.1_5'UTR	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	1234	Helical; (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCCTGCTCATCGTCTGTTTCA	0.607													T	204978776	C	T	204978776	2	4	104	1	0	0	0	0	0	0	0	1	10359	874	31	1		1	NFASC	1	204978776	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	466709	204978776	44271845	629	67243											
TMEM81	388730	broad.mit.edu	37	chr1	205053000	205053000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccagagtcatactcctgaGcatatttaaacttcacaaag	5	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:205053000G>A	uc001hbt.2	-	1	589	c.449C>T	c.(448-450)GCT>GTT	p.A150V		NM_203376	NP_976310	Q6P7N7	TMM81_HUMAN	transmembrane protein 81 precursor	150	Ig-like.|Extracellular (Potential).					integral to membrane					0	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			ATACTCCTGAGCATATTTAAA	0.478													A	205053000	G	A	205053000	3	1	104	1	0	0	0	0	1	0	0	0	16202	971	34	2	322	2	TMEM81	1	205053000	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	74224	205053000	44197621	630	67244											
TMEM81	388730	broad.mit.edu	37	chr1	205053297	205053297	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatagccaaggccacaggtgAcagtacaggttgtggcattg	13	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:205053297A>G	uc001hbt.2	-	1	292	c.152T>C	c.(151-153)GTC>GCC	p.V51A		NM_203376	NP_976310	Q6P7N7	TMM81_HUMAN	transmembrane protein 81 precursor	51	Extracellular (Potential).					integral to membrane					0	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			GCCACAGGTGACAGTACAGGT	0.517													G	205053297	A	G	205053297	3	3	104	1	0	0	0	0	1	0	0	0	16202	275	10	3	619	3	TMEM81	1	205053297	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	297	205053297	44197324	631	67245											
PM20D1	148811	broad.mit.edu	37	chr1	205797811	205797811	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcattctgaatcaactcaaaGatgaatttcacttgggtctc	7	9	5	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:205797811G>T	uc001hdj.2	-	13	1491	c.1446C>A	c.(1444-1446)ATC>ATA	p.I482I	PM20D1_uc009xbr.2_RNA	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1 precursor	482						extracellular region	metal ion binding|peptidase activity			skin(1)	1	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TCAACTCAAAGATGAATTTCA	0.517													T	205797811	G	T	205797811	2	4	104	1	0	0	0	0	0	0	0	1	12128	932	33	5		5	PM20D1	1	205797811	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	744514	205797811	43452810	632	67246											
SRGAP2	23380	broad.mit.edu	37	chr1	206632198	206632198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccactcatccctgaagaatCggctggatagtccacagatc	9	13	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:206632198C>T	uc001hdy.2	+	19	2809	c.2476C>T	c.(2476-2478)CGG>TGG	p.R826W	SRGAP2_uc010pru.1_Missense_Mutation_p.R749W	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	913					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)					CCTGAAGAATCGGCTGGATAG	0.552													T	206632198	C	T	206632198	3	4	104	1	0	0	0	0	1	0	0	0	15145	875	31	1	2555	1	SRGAP2	1	206632198	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	834387	206632198	42618423	633	67247											
IKBKE	9641	broad.mit.edu	37	chr1	206665007	206665007	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttcagtcatttagccaaaaGactcctgcaggtgttccagg	9	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:206665007G>T	uc001hdz.1	+	18	2128	c.1760G>T	c.(1759-1761)AGA>ATA	p.R587I	IKBKE_uc009xbv.1_Missense_Mutation_p.R587I|IKBKE_uc001hea.1_Missense_Mutation_p.R502I	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	587					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)					TTAGCCAAAAGACTCCTGCAG	0.532													T	206665007	G	T	206665007	3	4	104	1	0	0	0	0	1	0	0	0	7612	942	33	5	1822	5	IKBKE	1	206665007	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	32809	206665007	42585614	634	67248											
DYRK3	8444	broad.mit.edu	37	chr1	206821076	206821076	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggtccaaatgccaagaaaaGacatggagttattggtggtc	12	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:206821076G>T	uc001hej.2	+	3	701	c.533G>T	c.(532-534)AGA>ATA	p.R178I	DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.R158I	NM_003582	NP_003573	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	178					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|central_nervous_system(1)	3	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GCCAAGAAAAGACATGGAGTT	0.408													T	206821076	G	T	206821076	3	4	104	1	0	0	0	0	1	0	0	0	4857	942	33	5	564	5	DYRK3	1	206821076	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	156069	206821076	42429545	635	67249											
MAPKAPK2	9261	broad.mit.edu	37	chr1	206903322	206903322	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctctctttctgtagcctgaGaatctcttatacacctccaa	4	13	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:206903322G>T	uc001hem.1	+	5	856	c.570G>T	c.(568-570)GAG>GAT	p.E190D	MAPKAPK2_uc001hel.1_Missense_Mutation_p.E190D	NM_032960	NP_116584	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated	190	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TGTAGCCTGAGAATCTCTTAT	0.493													T	206903322	G	T	206903322	3	4	104	1	0	0	0	0	1	0	0	0	9289	933	33	5	588	5	MAPKAPK2	1	206903322	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	82246	206903322	42347299	636	67250											
C4BPB	725	broad.mit.edu	37	chr1	207273175	207273175	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacctctgcgaagccatggaGaactttatgcaacaattaaa	7	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:207273175G>T	uc001hfj.2	+	7	790	c.660G>T	c.(658-660)GAG>GAT	p.E220D	C4BPB_uc001hfi.2_Missense_Mutation_p.E219D|C4BPB_uc001hfk.2_Missense_Mutation_p.E219D|C4BPB_uc001hfl.2_Missense_Mutation_p.E220D|C4BPB_uc009xcd.2_Missense_Mutation_p.E271D|C4BPB_uc001hfm.2_Missense_Mutation_p.E220D	NM_001017365	NP_001017365	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	220					blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				ovary(1)	1						AAGCCATGGAGAACTTTATGC	0.393													T	207273175	G	T	207273175	3	4	104	1	0	0	0	0	1	0	0	0	2250	933	33	5	682	5	C4BPB	1	207273175	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	369853	207273175	41977446	637	67251											
CD55	1604	broad.mit.edu	37	chr1	207495903	207495903	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggtcagatattgaagagTtctgcaatcgtaagttcttc	9	6	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:207495903T>C	uc001hfq.3	+	2	571	c.277T>C	c.(277-279)TTC>CTC	p.F93L	CD55_uc001hfp.3_Missense_Mutation_p.F93L|CD55_uc001hfr.3_Missense_Mutation_p.F93L|CD55_uc010psf.1_RNA|CD55_uc009xcf.2_Missense_Mutation_p.F93L|CD55_uc009xce.2_Missense_Mutation_p.F93L	NM_000574	NP_000565	P08174	DAF_HUMAN	decay accelerating factor for complement isoform	93	Sushi 1.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			ovary(1)	1					Chloramphenicol(DB00446)	TATTGAAGAGTTCTGCAATCG	0.348													C	207495903	T	C	207495903	3	2	104	1	0	0	0	0	1	0	0	0	3024	1725	60	3	283	3	CD55	1	207495903	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	222728	207495903	41754718	638	67252											
CR2	1380	broad.mit.edu	37	chr1	207642169	207642169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgctgtaaatctctaggacGatttcccaatgggaaggtaa	10	8	1	0	rs147633291		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:207642169G>A	uc001hfw.2	+	4	753	c.659G>A	c.(658-660)CGA>CAA	p.R220Q	CR2_uc001hfv.2_Missense_Mutation_p.R220Q|CR2_uc009xch.2_Missense_Mutation_p.R220Q|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	220	Sushi 4.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						TCTCTAGGACGATTTCCCAAT	0.393													A	207642169	G	A	207642169	3	1	104	1	0	0	0	0	1	0	0	0	3842	1058	37	1	673	1	CR2	1	207642169	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	146266	207642169	41608452	639	67253											
CR2	1380	broad.mit.edu	37	chr1	207648237	207648237	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcatgatggcagaaaactttCtatatggaaatgaagtctct	9	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:207648237C>A	uc001hfw.2	+	13	2309	c.2215C>A	c.(2215-2217)CTA>ATA	p.L739I	CR2_uc001hfv.2_Missense_Mutation_p.L798I|CR2_uc009xch.2_Missense_Mutation_p.L739I	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	739	Sushi 12.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						AGAAAACTTTCTATATGGAAA	0.418													A	207648237	C	A	207648237	3	1	104	1	0	0	0	0	1	0	0	0	3842	912	32	5	2446	5	CR2	1	207648237	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	6068	207648237	41602384	640	67254											
CR2	1380	broad.mit.edu	37	chr1	207648254	207648254	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttctatatggaaatgaagtCtcttatgaatgtgaccaagg	9	5	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:207648254C>A	uc001hfw.2	+	13	2326	c.2232C>A	c.(2230-2232)GTC>GTA	p.V744V	CR2_uc001hfv.2_Silent_p.V803V|CR2_uc009xch.2_Silent_p.V744V	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	744	Sushi 12.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						GAAATGAAGTCTCTTATGAAT	0.443													A	207648254	C	A	207648254	2	1	104	1	0	0	0	0	0	0	0	1	3842	900	32	5		5	CR2	1	207648254	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	17	207648254	41602367	641	67255											
CR1L	1379	broad.mit.edu	37	chr1	207851610	207851610	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgatcaaagacatccagttCagatcccaaattaaatattc	5	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:207851610C>T	uc001hga.3	+	3	466	c.345C>T	c.(343-345)TTC>TTT	p.F115F	CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	115	Sushi 2.					cytoplasm|extracellular region|membrane					0						ACATCCAGTTCAGATCCCAAA	0.408													T	207851610	C	T	207851610	2	4	104	1	0	0	0	0	0	0	0	1	3841	825	29	4		4	CR1L	1	207851610	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	203356	207851610	41399011	642	67256											
CR1L	1379	broad.mit.edu	37	chr1	207890813	207890813	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttgttttctttctagaaatCttttgtccaaatcctccagc	4	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:207890813C>A	uc001hga.3	+	11	1540	c.1419C>A	c.(1417-1419)ATC>ATA	p.I473I	CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	473	Sushi 8.					cytoplasm|extracellular region|membrane					0						TTCTAGAAATCTTTTGTCCAA	0.373													A	207890813	C	A	207890813	2	1	104	1	0	0	0	0	0	0	0	1	3841	903	32	5		5	CR1L	1	207890813	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	39203	207890813	41359808	643	67257											
PLXNA2	5362	broad.mit.edu	37	chr1	208202319	208202319	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaggcaggcgtccgtgatgCtgcccttgtggatgtcaaac	14	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:208202319C>A	uc001hgz.2	-	30	6052	c.5294G>T	c.(5293-5295)AGC>ATC	p.S1765I	PLXNA2_uc001hgy.2_Missense_Mutation_p.S35I	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1765	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GTCCGTGATGCTGCCCTTGTG	0.572													A	208202319	C	A	208202319	3	1	104	1	0	0	0	0	1	0	0	0	12120	797	28	5	402	5	PLXNA2	1	208202319	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	311506	208202319	41048302	644	67258											
PLXNA2	5362	broad.mit.edu	37	chr1	208390238	208390238	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcgggtggtgatactgctTctgccctttggagaagatgg	17	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:208390238T>G	uc001hgz.2	-	2	1788	c.1030A>C	c.(1030-1032)AAG>CAG	p.K344Q	PLXNA2_uc001hha.3_Missense_Mutation_p.K398Q	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	344	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGATACTGCTTCTGCCCTTTG	0.592													G	208390238	T	G	208390238	3	3	104	1	0	0	0	0	1	0	0	0	12120	1792	62	5	4778	5	PLXNA2	1	208390238	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	187919	208390238	40860383	645	67259											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209936186	209936186	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaaggcagaaggaccaacAattaagaacgatgccagtca	9	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:209936186A>C	uc001hho.2	+	5	812	c.522A>C	c.(520-522)ACA>ACC	p.T174T	TRAF3IP3_uc001hhl.2_Silent_p.T154T|TRAF3IP3_uc001hhm.1_Silent_p.T174T|TRAF3IP3_uc001hhn.2_Silent_p.T154T|TRAF3IP3_uc009xcr.2_Silent_p.T174T	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	174	Cytoplasmic (Potential).					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AAGGACCAACAATTAAGAACG	0.473													C	209936186	A	C	209936186	2	2	104	1	0	0	0	0	0	0	0	1	16439	117	5	5		5	TRAF3IP3	1	209936186	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1545948	209936186	39314435	646	67260											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209936841	209936841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccgcacccccaggaggCcctacaaagggagctggtcc	13	16	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:209936841C>T	uc001hho.2	+	8	901	c.611C>T	c.(610-612)GCC>GTC	p.A204V	TRAF3IP3_uc001hhl.2_Missense_Mutation_p.A184V|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.A204V|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.A184V|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.A204V	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	204	Cytoplasmic (Potential).					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CCCCAGGAGGCCCTACAAAGG	0.537													T	209936841	C	T	209936841	3	4	104	1	0	0	0	0	1	0	0	0	16439	739	26	2	633	2	TRAF3IP3	1	209936841	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	655	209936841	39313780	647	67261											
C1orf107	27042	broad.mit.edu	37	chr1	210024594	210024594	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgattttctatgaactgccGacatatccacacttttacag	5	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:210024594G>A	uc001hhr.1	+	12	2149	c.2073G>A	c.(2071-2073)CCG>CCA	p.P691P	C1orf107_uc009xcu.1_Silent_p.P406P	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	digestive-organ expansion factor homolog	691					multicellular organismal development	nucleus					0				OV - Ovarian serous cystadenocarcinoma(81;0.0367)		ATGAACTGCCGACATATCCAC	0.408													A	210024594	G	A	210024594	2	1	104	1	0	0	0	0	0	0	0	1	1981	1045	37	1		1	C1orf107	1	210024594	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	87753	210024594	39226027	648	67262											
SYT14	255928	broad.mit.edu	37	chr1	210334179	210334179	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagtatataaggaaacttTtgtctttcaagtggccctat	7	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:210334179T>G	uc009xcv.2	+	8	1532	c.1460T>G	c.(1459-1461)TTT>TGT	p.F487C	SYT14_uc001hhs.3_Missense_Mutation_p.F551C|SYT14_uc001hht.3_Missense_Mutation_p.F506C|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.F532C|SYT14_uc010pso.1_Missense_Mutation_p.F449C|SYT14_uc010psp.1_Missense_Mutation_p.F25C	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN	synaptotagmin XIV isoform 4	487	Cytoplasmic (Potential).|C2 2.					integral to membrane				ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAGGAAACTTTTGTCTTTCAA	0.403													G	210334179	T	G	210334179	3	3	104	1	0	0	0	0	1	0	0	0	15467	1841	64	5	1690	5	SYT14	1	210334179	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	309585	210334179	38916442	649	67263											
SYT14	255928	broad.mit.edu	37	chr1	210334372	210334372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtatgtagatggcatgcGttgctagagtcatgatgaat	12	5	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:210334372G>A	uc009xcv.2	+	8	1725	c.1653G>A	c.(1651-1653)GCG>GCA	p.A551A	SYT14_uc001hhs.3_Silent_p.A615A|SYT14_uc001hht.3_Silent_p.A570A|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Silent_p.A596A|SYT14_uc010pso.1_Silent_p.A513A|SYT14_uc010psp.1_Silent_p.A89A	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN	synaptotagmin XIV isoform 4	551	Cytoplasmic (Potential).					integral to membrane				ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.085)		GATGGCATGCGTTGCTAGAGT	0.403													A	210334372	G	A	210334372	2	1	104	1	0	0	0	0	0	0	0	1	15467	1132	40	1		1	SYT14	1	210334372	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	193	210334372	38916249	650	67264											
KCNH1	3756	broad.mit.edu	37	chr1	210856661	210856661	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctctctctgattctggggActgtggcctcgatatttcaa	10	10	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:210856661A>G	uc001hib.2	-	11	3102	c.2932T>C	c.(2932-2934)TCC>CCC	p.S978P	KCNH1_uc001hic.2_Missense_Mutation_p.S951P	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	978	Cytoplasmic (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GATTCTGGGGACTGTGGCCTC	0.458													G	210856661	A	G	210856661	3	3	104	1	0	0	0	0	1	0	0	0	8031	275	10	3	41	3	KCNH1	1	210856661	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	522289	210856661	38393960	651	67265											
KCNH1	3756	broad.mit.edu	37	chr1	210977369	210977369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaatataatccattactcgCtcactcaatccttttggcac	3	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:210977369C>T	uc001hib.2	-	8	1772	c.1602G>A	c.(1600-1602)GAG>GAA	p.E534E	KCNH1_uc001hic.2_Silent_p.E507E	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	534	Cytoplasmic (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCATTACTCGCTCACTCAATC	0.458													T	210977369	C	T	210977369	2	4	104	1	0	0	0	0	0	0	0	1	8031	796	28	2		2	KCNH1	1	210977369	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	120708	210977369	38273252	652	67266											
KCNH1	3756	broad.mit.edu	37	chr1	211093016	211093016	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atggccactgcaaagatcttCtcaatgtctgtggatggggc	12	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:211093016C>A	uc001hib.2	-	7	1598	c.1428G>T	c.(1426-1428)GAG>GAT	p.E476D	KCNH1_uc001hic.2_Missense_Mutation_p.E449D	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	476	Extracellular (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CAAAGATCTTCTCAATGTCTG	0.498													A	211093016	C	A	211093016	3	1	104	1	0	0	0	0	1	0	0	0	8031	912	32	5	1561	5	KCNH1	1	211093016	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	115647	211093016	38157605	653	67267											
RCOR3	55758	broad.mit.edu	37	chr1	211451540	211451540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctaggacaagtttgatggatCgccaggctcgtaaactagct	11	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:211451540C>T	uc001hig.2	+	5	593	c.424C>T	c.(424-426)CGC>TGC	p.R142C	RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.R200C|RCOR3_uc010psw.1_Missense_Mutation_p.R200C|RCOR3_uc001hif.2_Missense_Mutation_p.R200C	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TTTGATGGATCGCCAGGCTCG	0.363													T	211451540	C	T	211451540	3	4	104	1	0	0	0	0	1	0	0	0	13184	884	31	1	620	1	RCOR3	1	211451540	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	358524	211451540	37799081	654	67268											
RD3	343035	broad.mit.edu	37	chr1	211654646	211654646	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcctctcagcctctcGcatctgccccgtcagctcca	7	20	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:211654646G>A	uc001him.2	-	2	1276	c.112C>T	c.(112-114)CGA>TGA	p.R38*	RD3_uc001hin.2_RNA|RD3_uc009xda.2_Intron	NM_183059	NP_898882	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	38	Potential.				response to stimulus|visual perception					ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		TCAGCCTCTCGCATCTGCCCC	0.642													A	211654646	G	A	211654646	4	1	104	1	0	0	0	0	0	1	0	0	13187	1095	38	1	483	1	RD3	1	211654646	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	203106	211654646	37595975	655	67269											
LPGAT1	9926	broad.mit.edu	37	chr1	211956643	211956643	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtgcattcaaaataatttTtgttgccccagaccttggca	7	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:211956643T>G	uc001hiu.2	-	5	1468	c.655A>C	c.(655-657)AAA>CAA	p.K219Q	LPGAT1_uc001hiv.2_Missense_Mutation_p.K219Q	NM_014873	NP_055688	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	219					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		AAAATAATTTTTGTTGCCCCA	0.398													G	211956643	T	G	211956643	3	3	104	1	0	0	0	0	1	0	0	0	8914	1850	64	5	473	5	LPGAT1	1	211956643	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	301997	211956643	37293978	656	67270											
PPP2R5A	5525	broad.mit.edu	37	chr1	212515594	212515594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagcctagcattgcaaaacGatacattgatcagaaattcg	7	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:212515594G>A	uc001hjb.2	+	4	1119	c.545G>A	c.(544-546)CGA>CAA	p.R182Q	PPP2R5A_uc010ptd.1_Missense_Mutation_p.R123Q	NM_006243	NP_006234	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B	182					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		ATTGCAAAACGATACATTGAT	0.318													A	212515594	G	A	212515594	3	1	104	1	0	0	0	0	1	0	0	0	12392	1058	37	1	559	1	PPP2R5A	1	212515594	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	558951	212515594	36735027	657	67271											
RPS6KC1	26750	broad.mit.edu	37	chr1	213341250	213341250	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagagaagaacagccgaGtacctcatgcgggcagaaag	14	8	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:213341250G>A	uc010ptr.1	+	7	1044	c.885G>A	c.(883-885)GAG>GAA	p.E295E	RPS6KC1_uc001hkd.2_Silent_p.E283E|RPS6KC1_uc010pts.1_Silent_p.E114E|RPS6KC1_uc010ptt.1_Silent_p.E114E|RPS6KC1_uc010ptu.1_Silent_p.E114E|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc001hke.2_Silent_p.E114E	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	295	MIT.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GAACAGCCGAGTACCTCATGC	0.408													A	213341250	G	A	213341250	2	1	104	1	0	0	0	0	0	0	0	1	13658	1020	36	4		4	RPS6KC1	1	213341250	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	825656	213341250	35909371	658	67272											
PROX1	5629	broad.mit.edu	37	chr1	214171593	214171593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctgaaatatcaccttattCgggaagtgcaatatcctttt	7	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:214171593C>T	uc001hkh.2	+	2	1987	c.1715C>T	c.(1714-1716)TCG>TTG	p.S572L	PROX1_uc001hkg.1_Missense_Mutation_p.S572L	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	572					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCACCTTATTCGGGAAGTGCA	0.448													T	214171593	C	T	214171593	3	4	104	1	0	0	0	0	1	0	0	0	12560	893	31	1	1717	1	PROX1	1	214171593	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	830343	214171593	35079028	659	67273											
SMYD2	56950	broad.mit.edu	37	chr1	214491450	214491451	+	Frame_Shift_Ins	INS	-	-	C													ccagagagaacaccttcggaINSaaaattgttagctgtgaagg							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:214491450_214491451insC	uc010ptx.1	+	4	410_411	c.377_378insC	c.(376-378)GAAfs	p.E126fs	SMYD2_uc009xdj.2_Frame_Shift_Ins_p.E34fs|SMYD2_uc010ptw.1_RNA|SMYD2_uc009xdl.1_RNA	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	126					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		ACACCTTCGGAAAAATTGTTAG	0.431													C	214491451	-	C	214491450	7	5	104	1	0	1	1	0	0	0	0	0	14822	246	9	0	391	0	SMYD2	1	214491450	Frame_Shift_Ins	INS	-	TCGA-BR-8680-01A-11D-2394-08	319857	214491450	34759171	660	67274	312	2									
SMYD2	56950	broad.mit.edu	37	chr1	214491451	214491452	+	Frame_Shift_Ins	INS	-	-	C													cagagagaacaccttcggaaINSaaattgttagctgtgaagga							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:214491450_214491451A>AC	uc021pix.1	+	3	410_411	c.377_378A>AC	c.(376-378)gaafs	p.E126fs	SMYD2_uc021piw.1_Frame_Shift_Ins_p.E34fs|SMYD2_uc009xdl.1_Non-coding_Transcript	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN	Homo sapiens SET and MYND domain containing 2 (SMYD2), mRNA.	126					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	RNA polymerase II core binding|histone methyltransferase activity (H3-K36 specific)|p53 binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		ACACCTTCGGAAAAATTGTTAG	0.431													C	214491452	-	C	214491451	7	5	104	1	0	1	1	0	0	0	0	0	14822	11	1	0	392	0	SMYD2	1	214491451	Frame_Shift_Ins	INS	-	TCGA-BR-8680-01A-11D-2394-08	1	214491451	34759170	661	67275	312	2									
SMYD2	56950	broad.mit.edu	37	chr1	214492285	214492285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttttactccaagcatctcGgattccctgacaatgatagc	6	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:214492285G>A	uc010ptx.1	+	5	526	c.493G>A	c.(493-495)GGA>AGA	p.G165R	SMYD2_uc009xdj.2_Missense_Mutation_p.G73R|SMYD2_uc010ptw.1_RNA|SMYD2_uc009xdl.1_RNA	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	165	SET.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		CAAGCATCTCGGATTCCCTGA	0.468													A	214492285	G	A	214492285	3	1	104	1	0	0	0	0	1	0	0	0	14822	1117	39	1	511	1	SMYD2	1	214492285	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	834	214492285	34758336	662	67276											
PTPN14	5784	broad.mit.edu	37	chr1	214551407	214551407	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccaacatcagcggcctcttCtgtgcctccaggcctgccat	9	17	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:214551407C>A	uc001hkk.1	-	14	2854	c.2583G>T	c.(2581-2583)CAG>CAT	p.Q861H	PTPN14_uc010pty.1_Missense_Mutation_p.Q762H	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	861					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GCGGCCTCTTCTGTGCCTCCA	0.517													A	214551407	C	A	214551407	3	1	104	1	0	0	0	0	1	0	0	0	12783	912	32	5	1004	5	PTPN14	1	214551407	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	59122	214551407	34699214	663	67277											
CENPF	1063	broad.mit.edu	37	chr1	214794191	214794191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaagaggtgactccaagtcGatcaactttgcaaataggga	10	8	1	2	rs147545168	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:214794191G>A	uc001hkm.2	+	6	941	c.767G>A	c.(766-768)CGA>CAA	p.R256Q		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	256	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ACTCCAAGTCGATCAACTTTG	0.388													A	214794191	G	A	214794191	3	1	104	1	0	0	0	0	1	0	0	0	3231	1058	37	1	785	1	CENPF	1	214794191	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	242784	214794191	34456430	664	67278											
CENPF	1063	broad.mit.edu	37	chr1	214802406	214802406	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtatactgcattggaacaAaaactgaaaaaattgacgga	8	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:214802406A>C	uc001hkm.2	+	8	1260	c.1086A>C	c.(1084-1086)CAA>CAC	p.Q362H		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	362	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).|Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CATTGGAACAAAAACTGAAAA	0.294													C	214802406	A	C	214802406	3	2	104	1	0	0	0	0	1	0	0	0	3231	11	1	5	1112	5	CENPF	1	214802406	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	8215	214802406	34448215	665	67279											
CENPF	1063	broad.mit.edu	37	chr1	214813974	214813974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgaatatgagagcctcaggGatctgctaaaatccaaagat	9	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:214813974G>A	uc001hkm.2	+	12	2467	c.2293G>A	c.(2293-2295)GAT>AAT	p.D765N		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	765	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAGCCTCAGGGATCTGCTAAA	0.423													A	214813974	G	A	214813974	3	1	104	1	0	0	0	0	1	0	0	0	3231	1174	41	4	2335	4	CENPF	1	214813974	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	11568	214813974	34436647	666	67280											
CENPF	1063	broad.mit.edu	37	chr1	214815908	214815908	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cactttgccgaattgcaagaGaaattcttatctttacaaag	6	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:214815908G>T	uc001hkm.2	+	12	4401	c.4227G>T	c.(4225-4227)GAG>GAT	p.E1409D		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AATTGCAAGAGAAATTCTTAT	0.398													T	214815908	G	T	214815908	3	4	104	1	0	0	0	0	1	0	0	0	3231	933	33	5	4269	5	CENPF	1	214815908	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1934	214815908	34434713	667	67281											
CENPF	1063	broad.mit.edu	37	chr1	214816283	214816283	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgcagcagtctgcaggaggaGaatctgaccaggaaagaaac	13	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:214816283G>T	uc001hkm.2	+	12	4776	c.4602G>T	c.(4600-4602)GAG>GAT	p.E1534D		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	1630					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGCAGGAGGAGAATCTGACCA	0.498													T	214816283	G	T	214816283	3	4	104	1	0	0	0	0	1	0	0	0	3231	933	33	5	4644	5	CENPF	1	214816283	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	375	214816283	34434338	668	67282											
CENPF	1063	broad.mit.edu	37	chr1	214826201	214826201	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatccagacataccgagagAaattgacttctaaagaagaa	7	7	1	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:214826201A>G	uc001hkm.2	+	16	8365	c.8191A>G	c.(8191-8193)AAA>GAA	p.K2731E		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2827	Potential.|Sufficient for self-association.|Sufficient for centromere localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATACCGAGAGAAATTGACTTC	0.343													G	214826201	A	G	214826201	3	3	104	1	0	0	0	0	1	0	0	0	3231	247	9	3	8249	3	CENPF	1	214826201	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	9918	214826201	34424420	669	67283											
KCNK2	3776	broad.mit.edu	37	chr1	215259996	215259996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaacattcctgtgtcaattCgacggagctggatgaactca	9	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:215259996C>T	uc001hkq.2	+	2	501	c.332C>T	c.(331-333)TCG>TTG	p.S111L	KCNK2_uc001hko.2_Missense_Mutation_p.S107L|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.S96L	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	111							outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TGTGTCAATTCGACGGAGCTG	0.458													T	215259996	C	T	215259996	3	4	104	1	0	0	0	0	1	0	0	0	8066	893	31	1	381	1	KCNK2	1	215259996	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	433795	215259996	33990625	670	67284											
KCTD3	51133	broad.mit.edu	37	chr1	215792499	215792499	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatttgttctcctaagatgtAggtggtccaaccgaagaaga	10	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:215792499A>C	uc001hks.2	+	17	2046	c.1752A>C	c.(1750-1752)GTA>GTC	p.V584V	KCTD3_uc001hkt.2_Splice_Site_p.G583_splice|KCTD3_uc010pub.1_Silent_p.V482V|KCTD3_uc009xdn.2_Silent_p.V308V	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	584						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CCTAAGATGTAGGTGGTCCAA	0.398													C	215792499	A	C	215792499	2	2	104	1	0	0	0	0	0	0	0	1	8110	407	15	5		5	KCTD3	1	215792499	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	532503	215792499	33458122	671	67285											
USH2A	7399	broad.mit.edu	37	chr1	215812516	215812516	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtccagtagaggtatcAtattggatcaacggcgtctt	10	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:215812516A>C	uc001hku.1	-	69	15420	c.15033T>G	c.(15031-15033)TAT>TAG	p.Y5011*		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	5011	Fibronectin type-III 35.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGAGGTATCATATTGGATCA	0.393										HNSCC(13;0.011)			C	215812516	A	C	215812516	4	2	104	1	0	0	0	0	0	1	0	0	17033	224	8	5	591	5	USH2A	1	215812516	Nonsense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	20017	215812516	33438105	672	67286											
USH2A	7399	broad.mit.edu	37	chr1	216108085	216108085	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcacccaaaggtttgtctcTtctccgctgtacatgacttt	7	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:216108085T>A	uc001hku.1	-	38	7560	c.7173A>T	c.(7171-7173)GAA>GAT	p.E2391D		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2391	Extracellular (Potential).|Fibronectin type-III 10.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTTTGTCTCTTCTCCGCTGT	0.333										HNSCC(13;0.011)			A	216108085	T	A	216108085	3	1	104	1	0	0	0	0	1	0	0	0	17033	1606	56	5	8575	5	USH2A	1	216108085	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	295569	216108085	33142536	673	67287											
USH2A	7399	broad.mit.edu	37	chr1	216270438	216270438	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catttacctgaggatcaaaaAgaaaataaagacgtcccttc	6	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:216270438A>C	uc001hku.1	-	22	5132	c.4745T>G	c.(4744-4746)CTT>CGT	p.L1582R		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1582	Laminin G-like 1.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGATCAAAAAGAAAATAAAG	0.249										HNSCC(13;0.011)			C	216270438	A	C	216270438	3	2	104	1	0	0	0	0	1	0	0	0	17033	72	3	5	11067	5	USH2A	1	216270438	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	162353	216270438	32980183	674	67288											
USH2A	7399	broad.mit.edu	37	chr1	216380731	216380731	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggagagattgatagcagaaGaactttgaacttgtcctctg	11	6	1	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:216380731G>T	uc001hku.1	-	16	3587	c.3200C>A	c.(3199-3201)TCT>TAT	p.S1067Y	USH2A_uc001hkv.2_Missense_Mutation_p.S1067Y	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1067	Extracellular (Potential).|Fibronectin type-III 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GATAGCAGAAGAACTTTGAAC	0.413										HNSCC(13;0.011)			T	216380731	G	T	216380731	3	4	104	1	0	0	0	0	1	0	0	0	17033	942	33	5	12650	5	USH2A	1	216380731	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	110293	216380731	32869890	675	67289											
USH2A	7399	broad.mit.edu	37	chr1	216420132	216420132	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttacccctaatttgcaaggAcattgtcctgttgatttgtt	8	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:216420132A>G	uc001hku.1	-	13	2991	c.2604T>C	c.(2602-2604)TGT>TGC	p.C868C	USH2A_uc001hkv.2_Silent_p.C868C	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	868	Laminin EGF-like 7.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTTGCAAGGACATTGTCCTG	0.428										HNSCC(13;0.011)			G	216420132	A	G	216420132	2	3	104	1	0	0	0	0	0	0	0	1	17033	273	10	3		3	USH2A	1	216420132	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	39401	216420132	32830489	676	67290											
SPATA17	128153	broad.mit.edu	37	chr1	217947760	217947760	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaaagcctttaacacacCgaagacctaaagttaagcag	8	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:217947760C>T	uc001hlh.1	+	7	630	c.604C>T	c.(604-606)CGA>TGA	p.R202*	SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Nonsense_Mutation_p.R202*	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	202						cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTTAACACACCGAAGACCTAA	0.443													T	217947760	C	T	217947760	4	4	104	1	0	0	0	0	0	1	0	0	15001	644	23	1	630	1	SPATA17	1	217947760	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1527628	217947760	31302861	677	67291											
SPATA17	128153	broad.mit.edu	37	chr1	217955597	217955597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcgggtggcagaaccaatcGatgagttaaagttggccaga	14	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:217955597G>A	uc001hlh.1	+	8	831	c.805G>A	c.(805-807)GAT>AAT	p.D269N	SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.D269N	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	269						cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGAACCAATCGATGAGTTAAA	0.468													A	217955597	G	A	217955597	3	1	104	1	0	0	0	0	1	0	0	0	15001	1058	37	1	835	1	SPATA17	1	217955597	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	7837	217955597	31295024	678	67292											
TGFB2	7042	broad.mit.edu	37	chr1	218578621	218578621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcagagttcagagtctttCgtttgcagaacccaaaagcc	9	10	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:218578621C>T	uc001hlm.2	+	2	1110	c.457C>T	c.(457-459)CGT>TGT	p.R153C	TGFB2_uc001hll.2_Missense_Mutation_p.R181C|TGFB2_uc001hln.2_Missense_Mutation_p.R181C|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	NM_003238	NP_003229	P61812	TGFB2_HUMAN	transforming growth factor, beta 2 isoform 2	153					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding				0				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CAGAGTCTTTCGTTTGCAGAA	0.363													T	218578621	C	T	218578621	3	4	104	1	0	0	0	0	1	0	0	0	15815	884	31	1	551	1	TGFB2	1	218578621	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	623024	218578621	30672000	679	67293											
LYPLAL1	127018	broad.mit.edu	37	chr1	219384943	219384943	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacaaactcaatgttaaaatCtctaggagtgaccacgaagt	8	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:219384943C>A	uc001hlq.3	+	5	628	c.587C>A	c.(586-588)TCT>TAT	p.S196Y	LYPLAL1_uc001hlr.3_Missense_Mutation_p.S180Y|LYPLAL1_uc001hls.3_Missense_Mutation_p.S72Y|LYPLAL1_uc001hlt.3_Missense_Mutation_p.S72Y|LYPLAL1_uc009xds.2_Missense_Mutation_p.S145Y	NM_138794	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	196						cytoplasm	lysophospholipase activity				0				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		ATGTTAAAATCTCTAGGAGTG	0.363													A	219384943	C	A	219384943	3	1	104	1	0	0	0	0	1	0	0	0	9118	913	32	5	605	5	LYPLAL1	1	219384943	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	806322	219384943	29865678	680	67294											
EPRS	2058	broad.mit.edu	37	chr1	220191809	220191809	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acctttttgttaaacgcccaGattttgtcccactccatgtt	5	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:220191809G>A	uc001hly.1	-	12	1746	c.1476C>T	c.(1474-1476)ATC>ATT	p.I492I	EPRS_uc010puf.1_Silent_p.I243I|EPRS_uc001hlz.1_Silent_p.I492I|EPRS_uc009xdt.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	492	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TAAACGCCCAGATTTTGTCCC	0.378													A	220191809	G	A	220191809	2	1	104	1	0	0	0	0	0	0	0	1	5191	932	33	4		4	EPRS	1	220191809	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	806866	220191809	29058812	681	67295											
IARS2	55699	broad.mit.edu	37	chr1	220279257	220279257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatttggaaaatggtacttGcagtcatccattaattcctg	8	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:220279257G>A	uc001hmc.2	+	9	1195	c.1091G>A	c.(1090-1092)TGC>TAC	p.C364Y		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	364					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AATGGTACTTGCAGTCATCCA	0.383													A	220279257	G	A	220279257	3	1	104	1	0	0	0	0	1	0	0	0	7474	1319	46	2	1125	2	IARS2	1	220279257	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	87448	220279257	28971364	682	67296											
MIA3	375056	broad.mit.edu	37	chr1	222802768	222802768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactactagaggatgaaaacGctataaatgcaaaacggtct	8	7	1	2	rs76866849	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:222802768G>A	uc001hnl.2	+	4	2215	c.2206G>A	c.(2206-2208)GCT>ACT	p.A736T	MIA3_uc009xea.1_Missense_Mutation_p.A572T	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	736	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		GGATGAAAACGCTATAAATGC	0.438													A	222802768	G	A	222802768	3	1	104	1	0	0	0	0	1	0	0	0	9565	1087	38	1	2220	1	MIA3	1	222802768	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2523511	222802768	26447853	683	67297											
MIA3	375056	broad.mit.edu	37	chr1	222803139	222803139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagaacgacaaccctgaGgaacatctgaagacctcagg	10	11	2	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:222803139G>A	uc001hnl.2	+	4	2586	c.2577G>A	c.(2575-2577)GAG>GAA	p.E859E	MIA3_uc009xea.1_Silent_p.E695E	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	859	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		ACAACCCTGAGGAACATCTGA	0.448													A	222803139	G	A	222803139	2	1	104	1	0	0	0	0	0	0	0	1	9565	991	35	4		4	MIA3	1	222803139	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	371	222803139	26447482	684	67298											
C1orf58	148362	broad.mit.edu	37	chr1	222906034	222906034	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacatcaaacctcaaaaggAcactgggtgctacatctcct	7	12	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:222906034A>G	uc001hnq.1	+	13	1609	c.1214A>G	c.(1213-1215)GAC>GGC	p.D405G	C1orf58_uc010put.1_Missense_Mutation_p.D373G|C1orf58_uc010puu.1_3'UTR|C1orf58_uc010puv.1_Missense_Mutation_p.D373G|uc001hnr.1_Intron|uc001hns.1_5'Flank	NM_144695	NP_653296	Q5VW32	BROX_HUMAN	Bro1-domain-containing protein	405	BRO1.					membrane					0				GBM - Glioblastoma multiforme(131;0.0667)		CCTCAAAAGGACACTGGGTGC	0.353													G	222906034	A	G	222906034	3	3	104	1	0	0	0	0	1	0	0	0	2050	275	10	3	1260	3	C1orf58	1	222906034	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	102895	222906034	26344587	685	67299											
DISP1	84976	broad.mit.edu	37	chr1	223177427	223177427	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaagagagctatcatggaGctggaaaggagtacagggta	14	5	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:223177427G>A	uc001hnu.1	+	8	2835	c.2688G>A	c.(2686-2688)GAG>GAA	p.E896E		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	896					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		CTATCATGGAGCTGGAAAGGA	0.493													A	223177427	G	A	223177427	2	1	104	1	0	0	0	0	0	0	0	1	4539	962	34	2		2	DISP1	1	223177427	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	271393	223177427	26073194	686	67300											
C1orf65	164127	broad.mit.edu	37	chr1	223568033	223568033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaggctggtggaagcctgtCgcaagaggcacctacatgcc	15	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:223568033C>T	uc001hoa.2	+	1	1319	c.1216C>T	c.(1216-1218)CGC>TGC	p.R406C		NM_152610	NP_689823	Q8N715	CA065_HUMAN	hypothetical protein LOC164127	406										central_nervous_system(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0704)		GGAAGCCTGTCGCAAGAGGCA	0.627													T	223568033	C	T	223568033	3	4	104	1	0	0	0	0	1	0	0	0	2055	884	31	1	1218	1	C1orf65	1	223568033	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	390606	223568033	25682588	687	67301											
TP53BP2	7159	broad.mit.edu	37	chr1	223984003	223984003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccattaggaccctctggCtctgtaatagaactacgttt	9	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:223984003C>T	uc010pvb.1	-	13	2530	c.2238G>A	c.(2236-2238)GAG>GAA	p.E746E	TP53BP2_uc001hod.2_Silent_p.E617E|TP53BP2_uc010puz.1_5'UTR|TP53BP2_uc010pva.1_Silent_p.E385E	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	740					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		GACCCTCTGGCTCTGTAATAG	0.463													T	223984003	C	T	223984003	2	4	104	1	0	0	0	0	0	0	0	1	16381	796	28	2		2	TP53BP2	1	223984003	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	415970	223984003	25266618	688	67302											
TP53BP2	7159	broad.mit.edu	37	chr1	223988509	223988509	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggccaactggatggattttaGagcctaaaatacagaaaagc	10	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:223988509G>T	uc010pvb.1	-	10	1521	c.1229C>A	c.(1228-1230)TCT>TAT	p.S410Y	TP53BP2_uc001hod.2_Missense_Mutation_p.S281Y|TP53BP2_uc010puz.1_5'UTR|TP53BP2_uc010pva.1_Missense_Mutation_p.S49Y	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	404					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		ATGGATTTTAGAGCCTAAAAT	0.383													T	223988509	G	T	223988509	3	4	104	1	0	0	0	0	1	0	0	0	16381	942	33	5	2211	5	TP53BP2	1	223988509	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4506	223988509	25262112	689	67303											
FBXO28	23219	broad.mit.edu	37	chr1	224321810	224321810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagaaaccattcattagctCgtcatgcagacattcttgct	8	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:224321810C>T	uc001hoh.2	+	3	453	c.412C>T	c.(412-414)CGT>TGT	p.R138C	FBXO28_uc009xef.2_Missense_Mutation_p.R138C|FBXO28_uc010pvc.1_Intron	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	F-box protein 28 isoform a	138										ovary(2)|kidney(2)|lung(1)	5	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		TTCATTAGCTCGTCATGCAGA	0.353													T	224321810	C	T	224321810	3	4	104	1	0	0	0	0	1	0	0	0	5738	884	31	1	422	1	FBXO28	1	224321810	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	333301	224321810	24928811	690	67304											
WDR26	80232	broad.mit.edu	37	chr1	224586614	224586614	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcctatctgtaaggtcctcGaagttatagccccgaattcg	8	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:224586614G>A	uc001hop.3	-	10	1467	c.1101C>T	c.(1099-1101)TTC>TTT	p.F367F	WDR26_uc001hoq.3_Silent_p.F351F|WDR26_uc010pvh.1_Silent_p.F74F	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	WD repeat domain 26 isoform a	514						cytoplasm|nucleus					0				GBM - Glioblastoma multiforme(131;0.0104)		TAAGGTCCTCGAAGTTATAGC	0.408													A	224586614	G	A	224586614	2	1	104	1	0	0	0	0	0	0	0	1	17280	1049	37	1		1	WDR26	1	224586614	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	264804	224586614	24664007	691	67305											
LBR	3930	broad.mit.edu	37	chr1	225599097	225599097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagatcaaaagtaccaattCgagggtttaattcacggcca	9	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:225599097C>T	uc001hoy.2	-	9	1273	c.1130G>A	c.(1129-1131)CGA>CAA	p.R377Q	LBR_uc001hoz.2_Missense_Mutation_p.R377Q|LBR_uc001hpa.1_Missense_Mutation_p.R377Q	NM_002296	NP_002287	Q14739	LBR_HUMAN	lamin B receptor	377					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			ovary(1)|skin(1)	2	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		AGTACCAATTCGAGGGTTTAA	0.388													T	225599097	C	T	225599097	3	4	104	1	0	0	0	0	1	0	0	0	8652	884	31	1	741	1	LBR	1	225599097	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1012483	225599097	23651524	692	67306											
LIN9	286826	broad.mit.edu	37	chr1	226421140	226421140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttgaggaatttgcatgccGaacaatttcctgtgcttctt	9	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:226421140G>A	uc001hqa.2	-	13	1688	c.1378C>T	c.(1378-1380)CGG>TGG	p.R460W	LIN9_uc001hqb.2_Missense_Mutation_p.R425W|LIN9_uc001hqc.2_Missense_Mutation_p.R392W|LIN9_uc009xel.1_Missense_Mutation_p.R425W	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	lin-9 homolog	444					cell cycle|DNA replication	nucleoplasm					0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TTTGCATGCCGAACAATTTCC	0.443													A	226421140	G	A	226421140	3	1	104	1	0	0	0	0	1	0	0	0	8813	1057	37	1	310	1	LIN9	1	226421140	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	822043	226421140	22829481	693	67307											
ITPKB	3707	broad.mit.edu	37	chr1	226825420	226825420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagaaacttctagagtggttCgaatggccttcagccggtcc	12	10	2	2	rs142586470		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:226825420C>T	uc010pvo.1	-	7	2925	c.2585G>A	c.(2584-2586)CGA>CAA	p.R862Q		NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	862							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				TAGAGTGGTTCGAATGGCCTT	0.552											OREG0014299	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	226825420	C	T	226825420	3	4	104	1	0	0	0	0	1	0	0	0	7918	884	31	1	263	1	ITPKB	1	226825420	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	404280	226825420	22425201	694	67308											
CDC42BPA	8476	broad.mit.edu	37	chr1	227219208	227219208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatgctgagagctgggaaGctgtgacctagaacaattta	12	6	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:227219208G>A	uc001hqr.2	-	27	4404	c.3461C>T	c.(3460-3462)GCT>GTT	p.A1154V	CDC42BPA_uc001hqq.2_Missense_Mutation_p.A453V|CDC42BPA_uc001hqs.2_Missense_Mutation_p.A1073V|CDC42BPA_uc009xes.2_Missense_Mutation_p.A1126V|CDC42BPA_uc010pvs.1_Missense_Mutation_p.A1134V|CDC42BPA_uc001hqp.2_Missense_Mutation_p.A310V|CDC42BPA_uc001hqt.2_Missense_Mutation_p.A32V|CDC42BPA_uc001hqu.1_Missense_Mutation_p.A361V	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	1167	PH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				GAGCTGGGAAGCTGTGACCTA	0.383													A	227219208	G	A	227219208	3	1	104	1	0	0	0	0	1	0	0	0	3072	971	34	2	1738	2	CDC42BPA	1	227219208	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	393788	227219208	22031413	695	67309											
CDC42BPA	8476	broad.mit.edu	37	chr1	227333279	227333279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataaggtgcttcacagttccGaatattatcccaatcaattc	5	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:227333279G>A	uc001hqr.2	-	8	1997	c.1054C>T	c.(1054-1056)CGG>TGG	p.R352W	CDC42BPA_uc001hqs.2_Missense_Mutation_p.R352W|CDC42BPA_uc009xes.2_Missense_Mutation_p.R352W|CDC42BPA_uc010pvs.1_Missense_Mutation_p.R352W	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	352	AGC-kinase C-terminal.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				TCACAGTTCCGAATATTATCC	0.353													A	227333279	G	A	227333279	3	1	104	1	0	0	0	0	1	0	0	0	3072	1057	37	1	4221	1	CDC42BPA	1	227333279	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	114071	227333279	21917342	696	67310											
CDC42BPA	8476	broad.mit.edu	37	chr1	227400862	227400862	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttttcagcatttcccatTtattcaatattttcatggca	3	10	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:227400862T>G	uc001hqr.2	-	3	1272	c.329A>C	c.(328-330)AAA>ACA	p.K110T	CDC42BPA_uc001hqs.2_Missense_Mutation_p.K110T|CDC42BPA_uc009xes.2_Missense_Mutation_p.K110T|CDC42BPA_uc010pvs.1_Missense_Mutation_p.K110T	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	110	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				CATTTCCCATTTATTCAATAT	0.239													G	227400862	T	G	227400862	3	3	104	1	0	0	0	0	1	0	0	0	3072	1841	64	5	4966	5	CDC42BPA	1	227400862	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	67583	227400862	21849759	697	67311											
ZNF678	339500	broad.mit.edu	37	chr1	227842301	227842301	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatccttactgaacataagaGaattcatactggagagaagc	8	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:227842301G>T	uc001hqw.1	+	4	695	c.350G>T	c.(349-351)AGA>ATA	p.R117I	ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	172					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			pancreas(1)	1		Prostate(94;0.0885)				GAACATAAGAGAATTCATACT	0.333													T	227842301	G	T	227842301	3	4	104	1	0	0	0	0	1	0	0	0	18082	942	33	5	529	5	ZNF678	1	227842301	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	441439	227842301	21408320	698	67312											
ZNF678	339500	broad.mit.edu	37	chr1	227843225	227843225	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcacctaactagccataagaGaattcatactggagagaaac	7	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:227843225G>T	uc001hqw.1	+	4	1619	c.1274G>T	c.(1273-1275)AGA>ATA	p.R425I	ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	480					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			pancreas(1)	1		Prostate(94;0.0885)				AGCCATAAGAGAATTCATACT	0.368													T	227843225	G	T	227843225	3	4	104	1	0	0	0	0	1	0	0	0	18082	942	33	5	1453	5	ZNF678	1	227843225	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	924	227843225	21407396	699	67313											
ZNF678	339500	broad.mit.edu	37	chr1	227843477	227843477	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatccatagtaagtataagaGaatttatactggagaggaac	9	4	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:227843477G>T	uc001hqw.1	+	4	1871	c.1526G>T	c.(1525-1527)AGA>ATA	p.R509I	ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	564					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			pancreas(1)	1		Prostate(94;0.0885)				AAGTATAAGAGAATTTATACT	0.323													T	227843477	G	T	227843477	3	4	104	1	0	0	0	0	1	0	0	0	18082	942	33	5	1705	5	ZNF678	1	227843477	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	252	227843477	21407144	700	67314											
WNT3A	89780	broad.mit.edu	37	chr1	228238550	228238550	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggatggtgtctcgggagttCgccgacgcccgggagaaccg	18	11	1	1	rs141170201		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:228238550C>T	uc001hrq.1	+	3	585	c.507C>T	c.(505-507)TTC>TTT	p.F169F	WNT3A_uc001hrp.1_Silent_p.F169F	NM_033131	NP_149122	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family,	169					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			ovary(1)	1		Prostate(94;0.0405)				CTCGGGAGTTCGCCGACGCCC	0.672													T	228238550	C	T	228238550	2	4	104	1	0	0	0	0	0	0	0	1	17386	883	31	1		1	WNT3A	1	228238550	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	395073	228238550	21012071	701	67315											
WNT3A	89780	broad.mit.edu	37	chr1	228238597	228238597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccgctcagccatgaaccGccacaacaacgaggctgggc	11	16	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:228238597G>A	uc001hrq.1	+	3	632	c.554G>A	c.(553-555)CGC>CAC	p.R185H	WNT3A_uc001hrp.1_Missense_Mutation_p.R185H	NM_033131	NP_149122	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family,	185					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			ovary(1)	1		Prostate(94;0.0405)				GCCATGAACCGCCACAACAAC	0.652													A	228238597	G	A	228238597	3	1	104	1	0	0	0	0	1	0	0	0	17386	1087	38	1	564	1	WNT3A	1	228238597	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	47	228238597	21012024	702	67316											
OBSCN	84033	broad.mit.edu	37	chr1	228402664	228402664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acacctggatcaggtgccacGaggctgaatgggtggctaca	14	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:228402664G>A	uc009xez.1	+	5	1737	c.1693G>A	c.(1693-1695)GAG>AAG	p.E565K	OBSCN_uc001hsn.2_Missense_Mutation_p.E565K|uc001hsm.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	565	Fibronectin type-III 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CAGGTGCCACGAGGCTGAATG	0.597													A	228402664	G	A	228402664	3	1	104	1	0	0	0	0	1	0	0	0	10812	1059	37	1	1707	1	OBSCN	1	228402664	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	164067	228402664	20847957	703	67317											
OBSCN	84033	broad.mit.edu	37	chr1	228434331	228434331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtggcccaggcccagaCagaggtgacgtggtacaagg	17	9	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:228434331C>T	uc009xez.1	+	13	3904	c.3860C>T	c.(3859-3861)ACA>ATA	p.T1287I	OBSCN_uc001hsn.2_Missense_Mutation_p.T1287I	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1287	Ig-like 13.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CAGGCCCAGACAGAGGTGACG	0.612													T	228434331	C	T	228434331	3	4	104	1	0	0	0	0	1	0	0	0	10812	478	17	4	3906	4	OBSCN	1	228434331	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	31667	228434331	20816290	704	67318											
OBSCN	84033	broad.mit.edu	37	chr1	228451947	228451947	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acgtggtacaaggacgggaaGaaactgagctccagctcgaa	13	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:228451947G>T	uc009xez.1	+	16	4760	c.4716G>T	c.(4714-4716)AAG>AAT	p.K1572N	OBSCN_uc001hsn.2_Missense_Mutation_p.K1572N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1572	Ig-like 16.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGGACGGGAAGAAACTGAGCT	0.672													T	228451947	G	T	228451947	3	4	104	1	0	0	0	0	1	0	0	0	10812	933	33	5	4774	5	OBSCN	1	228451947	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	17616	228451947	20798674	705	67319											
OBSCN	84033	broad.mit.edu	37	chr1	228511096	228511096	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcctgtgagctttgactgCgtggtgacaggtcagcccat	12	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:228511096C>T	uc009xez.1	+	56	15485	c.15441C>T	c.(15439-15441)TGC>TGT	p.C5147C	OBSCN_uc001hsn.2_Silent_p.C5147C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5147	Ig-like 49.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCTTTGACTGCGTGGTGACAG	0.532													T	228511096	C	T	228511096	2	4	104	1	0	0	0	0	0	0	0	1	10812	776	27	1		1	OBSCN	1	228511096	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	59149	228511096	20739525	706	67320											
OBSCN	84033	broad.mit.edu	37	chr1	228527683	228527683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcagtgcgacacggacgacGacgtggccatgtgcttcatc	13	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:228527683G>A	uc009xez.1	+	70	17340	c.17296G>A	c.(17296-17298)GAC>AAC	p.D5766N	OBSCN_uc001hsn.2_Missense_Mutation_p.D5766N|OBSCN_uc001hsr.1_Missense_Mutation_p.D395N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5766	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CACGGACGACGACGTGGCCAT	0.637													A	228527683	G	A	228527683	3	1	104	1	0	0	0	0	1	0	0	0	10812	1058	37	1	17570	1	OBSCN	1	228527683	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	16587	228527683	20722938	707	67321											
NUP133	55746	broad.mit.edu	37	chr1	229580703	229580703	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatcttcacaaatatactgtCtttagatacttcaattggat	5	7	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:229580703C>A	uc001htn.2	-	25	3384	c.3292G>T	c.(3292-3294)GAC>TAC	p.D1098Y		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1098					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AATATACTGTCTTTAGATACT	0.318													A	229580703	C	A	229580703	3	1	104	1	0	0	0	0	1	0	0	0	10754	913	32	5	186	5	NUP133	1	229580703	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1053020	229580703	19669918	708	67322											
ABCB10	23456	broad.mit.edu	37	chr1	229653939	229653939	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttccttatgctgaaataAaactttgtttgttcattagt	6	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:229653939A>C	uc001htp.3	-	13	2247	c.2204T>G	c.(2203-2205)TTT>TGT	p.F735C		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	735	Mitochondrial intermembrane (Potential).|Mitochondrial matrix (Potential).					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TGCTGAAATAAAACTTTGTTT	0.318													C	229653939	A	C	229653939	3	2	104	1	0	0	0	0	1	0	0	0	41	14	1	5	16	5	ABCB10	1	229653939	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	73236	229653939	19596682	709	67323											
ABCB10	23456	broad.mit.edu	37	chr1	229675310	229675310	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctttgtacaggacagaaAgcacgatcaggtttccggag	11	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:229675310A>C	uc001htp.3	-	6	1275	c.1232T>G	c.(1231-1233)CTT>CGT	p.L411R		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	411	Mitochondrial intermembrane (Potential).|Helical; (Potential).|ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CAGGACAGAAAGCACGATCAG	0.507													C	229675310	A	C	229675310	3	2	104	1	0	0	0	0	1	0	0	0	41	72	3	5	1016	5	ABCB10	1	229675310	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	21371	229675310	19575311	710	67324											
ABCB10	23456	broad.mit.edu	37	chr1	229683424	229683424	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggaggagaataatgaagttCtcagcctattcacaatgcgc	10	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:229683424C>A	uc001htp.3	-	3	786	c.743G>T	c.(742-744)AGA>ATA	p.R248I		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	248	Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential).|ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TAATGAAGTTCTCAGCCTATT	0.478													A	229683424	C	A	229683424	3	1	104	1	0	0	0	0	1	0	0	0	41	913	32	5	1517	5	ABCB10	1	229683424	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	8114	229683424	19567197	711	67325											
PGBD5	79605	broad.mit.edu	37	chr1	230468774	230468774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgcgcgcggagcaagccGcagcagtaaatccctgaggg	14	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:230468774G>A	uc010pwb.1	-	5	882	c.882C>T	c.(880-882)TGC>TGT	p.C294C	PGBD5_uc001htv.2_Silent_p.C393C	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	294						integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GGAGCAAGCCGCAGCAGTAAA	0.657													A	230468774	G	A	230468774	2	1	104	1	0	0	0	0	0	0	0	1	11784	1079	38	1		1	PGBD5	1	230468774	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	785350	230468774	18781847	712	67326											
COG2	22796	broad.mit.edu	37	chr1	230795218	230795218	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttatttttcaggaagatttCgatgtcgatcattttgtgtc	8	5	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:230795218C>T	uc001htw.2	+	2	232	c.81C>T	c.(79-81)TTC>TTT	p.F27F	COG2_uc001htx.2_Silent_p.F27F|COG2_uc010pwc.1_5'UTR	NM_007357	NP_031383	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2 isoform	27					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				AGGAAGATTTCGATGTCGATC	0.378													T	230795218	C	T	230795218	2	4	104	1	0	0	0	0	0	0	0	1	3658	883	31	1		1	COG2	1	230795218	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	326444	230795218	18455403	713	67327											
COG2	22796	broad.mit.edu	37	chr1	230805215	230805215	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcttgcggacttacgccacGattgacaagacacgggacgc	12	12	0	2	rs34010781	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:230805215G>A	uc001htw.2	+	7	859	c.708G>A	c.(706-708)ACG>ACA	p.T236T	COG2_uc001htx.2_Silent_p.T236T|COG2_uc010pwc.1_Silent_p.T109T	NM_007357	NP_031383	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2 isoform	236					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CTTACGCCACGATTGACAAGA	0.448													A	230805215	G	A	230805215	2	1	104	1	0	0	0	0	0	0	0	1	3658	1045	37	1		1	COG2	1	230805215	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	9997	230805215	18445406	714	67328											
TTC13	79573	broad.mit.edu	37	chr1	231079614	231079614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtaattactcggctcagttCgaacagagcaagctcagcat	10	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:231079614C>T	uc001huf.3	-	6	641	c.610G>A	c.(610-612)GAA>AAA	p.E204K	TTC13_uc009xfi.2_Intron|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Intron|TTC13_uc009xfk.1_Intron	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	204							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CGGCTCAGTTCGAACAGAGCA	0.418													T	231079614	C	T	231079614	3	4	104	1	0	0	0	0	1	0	0	0	16677	893	31	1	2044	1	TTC13	1	231079614	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	274399	231079614	18171007	715	67329											
TRIM67	440730	broad.mit.edu	37	chr1	231349577	231349577	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggacggaaggtggcgtgTgcaagggggccaccgtgggc	20	10	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:231349577T>C	uc009xfn.1	+	9	2182	c.2140T>C	c.(2140-2142)TGC>CGC	p.C714R		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	714	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				AGGTGGCGTGTGCAAGGGGGC	0.557													C	231349577	T	C	231349577	3	2	104	1	0	0	0	0	1	0	0	0	16537	1696	59	3	2174	3	TRIM67	1	231349577	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	269963	231349577	17901044	716	67330											
C1orf131	128061	broad.mit.edu	37	chr1	231374789	231374789	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctaagttccttgaagaagctCgaagcgctcttcctctggcc	9	13	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:231374789C>T	uc001hun.1	-	2	301	c.264G>A	c.(262-264)TCG>TCA	p.S88S	C1orf131_uc001hul.2_Silent_p.S88S|C1orf131_uc001hum.2_Silent_p.S88S|C1orf131_uc010pwd.1_Silent_p.S88S|C1orf131_uc001huo.1_Silent_p.S88S|GNPAT_uc009xfo.1_5'Flank|GNPAT_uc001hup.3_5'Flank|GNPAT_uc009xfp.2_5'Flank	NM_152379	NP_689592	Q8NDD1	CA131_HUMAN	hypothetical protein LOC128061	88										central_nervous_system(1)|skin(1)	2	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TGAAGAAGCTCGAAGCGCTCT	0.547													T	231374789	C	T	231374789	2	4	104	1	0	0	0	0	0	0	0	1	1998	871	31	1		1	C1orf131	1	231374789	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	25212	231374789	17875832	717	67331											
EXOC8	149371	broad.mit.edu	37	chr1	231471824	231471824	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgatttctttgtaactGtgcaaggccccttggatgtc	10	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:231471824G>A	uc001huq.2	-	1	1755	c.1668C>T	c.(1666-1668)CAC>CAT	p.H556H		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	556					exocytosis|protein transport	growth cone|nucleus	protein binding			skin(1)	1	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CTTTGTAACTGTGCAAGGCCC	0.488													A	231471824	G	A	231471824	2	1	104	1	0	0	0	0	0	0	0	1	5311	1368	48	4		4	EXOC8	1	231471824	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	97035	231471824	17778797	718	67332											
SIPA1L2	57568	broad.mit.edu	37	chr1	232538143	232538143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttccaattgattaccttccGaaggtcggtctggagttgtc	10	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:232538143G>A	uc001hvg.2	-	20	5175	c.5017C>T	c.(5017-5019)CGG>TGG	p.R1673W	SIPA1L2_uc001hvf.2_Missense_Mutation_p.R729W	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1673	Potential.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATTACCTTCCGAAGGTCGGTC	0.393													A	232538143	G	A	232538143	3	1	104	1	0	0	0	0	1	0	0	0	14330	1057	37	1	159	1	SIPA1L2	1	232538143	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1066319	232538143	16712478	719	67333											
SIPA1L2	57568	broad.mit.edu	37	chr1	232596771	232596771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgaggcggctcccttggCgaaggccagccttccaggca	13	16	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:232596771C>T	uc001hvg.2	-	8	3115	c.2957G>A	c.(2956-2958)CGC>CAC	p.R986H	SIPA1L2_uc001hvf.2_Missense_Mutation_p.R60H	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	986	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCTCCCTTGGCGAAGGCCAGC	0.567													T	232596771	C	T	232596771	3	4	104	1	0	0	0	0	1	0	0	0	14330	768	27	1	2267	1	SIPA1L2	1	232596771	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	58628	232596771	16653850	720	67334											
SIPA1L2	57568	broad.mit.edu	37	chr1	232615380	232615380	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggggaggacatacctgttgtCtgttgttgggcatgtaggga	17	5	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:232615380C>T	uc001hvg.2	-	5	2236	c.2078G>A	c.(2077-2079)AGA>AAA	p.R693K		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	693	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TACCTGTTGTCTGTTGTTGGG	0.483													T	232615380	C	T	232615380	3	4	104	1	0	0	0	0	1	0	0	0	14330	913	32	4	3158	4	SIPA1L2	1	232615380	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	18609	232615380	16635241	721	67335											
SIPA1L2	57568	broad.mit.edu	37	chr1	232649902	232649902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcccatcaccctcatcgGcatccaggttctctttggag	7	14	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:232649902G>A	uc001hvg.2	-	1	1342	c.1184C>T	c.(1183-1185)GCC>GTC	p.A395V		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	395					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACCCTCATCGGCATCCAGGTT	0.542													A	232649902	G	A	232649902	3	1	104	1	0	0	0	0	1	0	0	0	14330	1203	42	2	4068	2	SIPA1L2	1	232649902	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	34522	232649902	16600719	722	67336											
KIAA1804	84451	broad.mit.edu	37	chr1	233482190	233482190	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttgatttttctttagttTtgctacttgagaagatagaa	7	4	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:233482190T>G	uc001hvt.3	+	2	1069	c.808T>G	c.(808-810)TTG>GTG	p.L270V	KIAA1804_uc001hvs.1_Missense_Mutation_p.L270V	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	270	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				TTCTTTAGTTTTGCTACTTGA	0.353													G	233482190	T	G	233482190	3	3	104	1	0	0	0	0	1	0	0	0	8259	1838	64	5	814	5	KIAA1804	1	233482190	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	832288	233482190	15768431	723	67337											
KIAA1804	84451	broad.mit.edu	37	chr1	233490640	233490640	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gccttaattctcgaacagttGactgctattgaaggggcagt	11	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:233490640G>T	uc001hvt.3	+	4	1455	c.1194G>T	c.(1192-1194)TTG>TTT	p.L398F	KIAA1804_uc001hvs.1_Missense_Mutation_p.L398F	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	398	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				TCGAACAGTTGACTGCTATTG	0.383													T	233490640	G	T	233490640	3	4	104	1	0	0	0	0	1	0	0	0	8259	1281	45	5	1208	5	KIAA1804	1	233490640	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	8450	233490640	15759981	724	67338											
C1orf31	388753	broad.mit.edu	37	chr1	234509574	234509574	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggcccccacacacctgtttCtacagcgcttaggttcgaac	8	15	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:234509574C>A	uc001hwc.2	+	1	146	c.110C>A	c.(109-111)TCT>TAT	p.S37Y	C1orf31_uc001hwb.2_Intron	NM_001012985	NP_001013003	Q5JTJ3	CA031_HUMAN	hypothetical protein LOC388753	37						mitochondrion	cytochrome-c oxidase activity				0	Ovarian(103;0.0339)	all_cancers(173;0.241)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACACCTGTTTCTACAGCGCTT	0.353													A	234509574	C	A	234509574	3	1	104	1	0	0	0	0	1	0	0	0	2037	913	32	5	112	5	C1orf31	1	234509574	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1018934	234509574	14741047	725	67339											
ARID4B	51742	broad.mit.edu	37	chr1	235377167	235377167	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaatactagcttcatacatTttttgatttttccctcgtcc	3	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:235377167T>G	uc001hwq.2	-	17	2256	c.1758A>C	c.(1756-1758)AAA>AAC	p.K586N	ARID4B_uc001hwr.2_Intron|ARID4B_uc001hws.3_Intron|ARID4B_uc001hwt.3_Missense_Mutation_p.K267N	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CTTCATACATTTTTTGATTTT	0.393													G	235377167	T	G	235377167	3	3	104	1	0	0	0	0	1	0	0	0	920	1838	64	5	2212	5	ARID4B	1	235377167	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	867593	235377167	13873454	726	67340											
ARID4B	51742	broad.mit.edu	37	chr1	235383751	235383751	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcctccttaacttttatttCttttacattttcacactcct	0	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:235383751C>A	uc001hwq.2	-	15	1771	c.1273G>T	c.(1273-1275)GAA>TAA	p.E425*	ARID4B_uc001hwr.2_Nonsense_Mutation_p.E425*|ARID4B_uc001hws.3_Nonsense_Mutation_p.E425*|ARID4B_uc001hwt.3_Nonsense_Mutation_p.E106*	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	425	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ACTTTTATTTCTTTTACATTT	0.353													A	235383751	C	A	235383751	4	1	104	1	0	0	0	0	0	1	0	0	920	922	32	5	2705	5	ARID4B	1	235383751	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	6584	235383751	13866870	727	67341											
LYST	1130	broad.mit.edu	37	chr1	235887376	235887376	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttctgccatttgttagaaaGatttctacagcattatctct	6	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:235887376G>T	uc001hxj.2	-	39	9442	c.9267C>A	c.(9265-9267)ATC>ATA	p.I3089I	LYST_uc001hxi.2_Silent_p.I313I	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3089					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTGTTAGAAAGATTTCTACAG	0.378									Chediak-Higashi_syndrome				T	235887376	G	T	235887376	2	4	104	1	0	0	0	0	0	0	0	1	9128	932	33	5		5	LYST	1	235887376	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	503625	235887376	13363245	728	67342											
LYST	1130	broad.mit.edu	37	chr1	235897198	235897198	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccttcttcagtttcatatttCttttgttcctagaagattta	4	8	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:235897198C>A	uc001hxj.2	-	33	8719	c.8544G>T	c.(8542-8544)AAG>AAT	p.K2848N	LYST_uc001hxi.2_Missense_Mutation_p.K72N	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2848					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTCATATTTCTTTTGTTCCT	0.284									Chediak-Higashi_syndrome				A	235897198	C	A	235897198	3	1	104	1	0	0	0	0	1	0	0	0	9128	912	32	5	2945	5	LYST	1	235897198	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	9822	235897198	13353423	729	67343											
LYST	1130	broad.mit.edu	37	chr1	235944236	235944236	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgttcacatcgcaaaatttCtttattaatatatttggagt	5	5	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:235944236C>A	uc001hxj.2	-	16	5318	c.5143G>T	c.(5143-5145)GAA>TAA	p.E1715*	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	1715					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CGCAAAATTTCTTTATTAATA	0.313									Chediak-Higashi_syndrome				A	235944236	C	A	235944236	4	1	104	1	0	0	0	0	0	1	0	0	9128	922	32	5	6414	5	LYST	1	235944236	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	47038	235944236	13306385	730	67344											
LYST	1130	broad.mit.edu	37	chr1	235972028	235972028	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcaaaaacaaagttcTgataagcctttaaagcatcc	4	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:235972028T>G	uc001hxj.2	-	5	2265	c.2090A>C	c.(2089-2091)CAG>CCG	p.Q697P	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.Q697P	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	697	WD 1.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AACAAAGTTCTGATAAGCCTT	0.363									Chediak-Higashi_syndrome				G	235972028	T	G	235972028	3	3	104	1	0	0	0	0	1	0	0	0	9128	1580	55	5	9511	5	LYST	1	235972028	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	27792	235972028	13278593	731	67345											
LYST	1130	broad.mit.edu	37	chr1	235972915	235972915	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actccttccaaaagctcaggTaaaagaagggctctatgacg	9	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:235972915T>C	uc001hxj.2	-	5	1378	c.1203A>G	c.(1201-1203)TTA>TTG	p.L401L	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.L401L	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	401					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAAGCTCAGGTAAAAGAAGGG	0.418									Chediak-Higashi_syndrome				C	235972915	T	C	235972915	2	2	104	1	0	0	0	0	0	0	0	1	9128	1635	57	3		3	LYST	1	235972915	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	887	235972915	13277706	732	67346											
HEATR1	55127	broad.mit.edu	37	chr1	236746034	236746034	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaaggaggaggcttgtAcctttatgaaaagtttcatc	10	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:236746034A>C	uc001hyd.1	-	19	2687	c.2562_splice	c.e19+1	p.K854_splice	HEATR1_uc009xgh.1_Splice_Site_p.K97_splice	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28						rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGAGGCTTGTACCTTTATGAA	0.338													C	236746034	A	C	236746034	5	2	104	1	0	0	0	0	0	0	1	0	7027	405	14	5	3978	5	HEATR1	1	236746034	Splice_Site	SNP	A	TCGA-BR-8680-01A-11D-2394-08	773119	236746034	12504587	733	67347											
HEATR1	55127	broad.mit.edu	37	chr1	236749198	236749198	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcttctgatttgctacaccGattagttttcctggctttgt	7	9	2	1	rs140333539		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:236749198G>A	uc001hyd.1	-	16	2096	c.1971C>T	c.(1969-1971)ATC>ATT	p.I657I	HEATR1_uc009xgh.1_5'Flank	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	657					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTGCTACACCGATTAGTTTTC	0.348													A	236749198	G	A	236749198	2	1	104	1	0	0	0	0	0	0	0	1	7027	1048	37	1		1	HEATR1	1	236749198	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3164	236749198	12501423	734	67348											
HEATR1	55127	broad.mit.edu	37	chr1	236754253	236754253	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtatcagaatctgctaaaAactacagggttcaacatagt	7	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:236754253A>C	uc001hyd.1	-	12	1549	c.1424T>G	c.(1423-1425)TTT>TGT	p.F475C		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	475					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATCTGCTAAAAACTACAGGGT	0.368													C	236754253	A	C	236754253	3	2	104	1	0	0	0	0	1	0	0	0	7027	28	1	5	5146	5	HEATR1	1	236754253	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	5055	236754253	12496368	735	67349											
ACTN2	88	broad.mit.edu	37	chr1	236907933	236907933	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accacctttgcaggcaaagaGcagatcttgctgcagaagga	11	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:236907933G>T	uc001hyf.2	+	12	1467	c.1263G>T	c.(1261-1263)GAG>GAT	p.E421D	ACTN2_uc001hyg.2_Missense_Mutation_p.E213D|ACTN2_uc009xgi.1_Missense_Mutation_p.E421D|ACTN2_uc010pxu.1_Missense_Mutation_p.E110D|ACTN2_uc001hyh.2_Missense_Mutation_p.E109D	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	421	Spectrin 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CAGGCAAAGAGCAGATCTTGC	0.577													T	236907933	G	T	236907933	3	4	104	1	0	0	0	0	1	0	0	0	205	962	34	5	1309	5	ACTN2	1	236907933	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	153680	236907933	12342688	736	67350											
ACTN2	88	broad.mit.edu	37	chr1	236908053	236908053	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggaccgcgtggagcagatCgcagccatcgcgcaggagct	15	13	0	1	rs34827377	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:236908053C>T	uc001hyf.2	+	12	1587	c.1383C>T	c.(1381-1383)ATC>ATT	p.I461I	ACTN2_uc001hyg.2_Silent_p.I253I|ACTN2_uc009xgi.1_Silent_p.I461I|ACTN2_uc010pxu.1_Silent_p.I150I|ACTN2_uc001hyh.2_Silent_p.I149I	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	461	Spectrin 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGGAGCAGATCGCAGCCATCG	0.652													T	236908053	C	T	236908053	2	4	104	1	0	0	0	0	0	0	0	1	205	874	31	1		1	ACTN2	1	236908053	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	120	236908053	12342568	737	67351											
MTR	4548	broad.mit.edu	37	chr1	236992548	236992548	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccacctgccactgcttttgAaggacatatgttactgtctg	8	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:236992548A>C	uc001hyi.3	+	12	1478	c.1055A>C	c.(1054-1056)GAA>GCA	p.E352A	MTR_uc010pxw.1_5'UTR|MTR_uc010pxx.1_Missense_Mutation_p.E352A|MTR_uc010pxy.1_Missense_Mutation_p.E352A|MTR_uc009xgj.1_3'UTR	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	352					nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ACTGCTTTTGAAGGACATATG	0.393													C	236992548	A	C	236992548	3	2	104	1	0	0	0	0	1	0	0	0	9958	246	9	5	1101	5	MTR	1	236992548	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	84495	236992548	12258073	738	67352											
RYR2	6262	broad.mit.edu	37	chr1	237617847	237617847	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacagactacgagccctgaaGaatcggcaaaatctcttcca	7	12	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:237617847G>T	uc001hyl.1	+	15	1569	c.1449G>T	c.(1447-1449)AAG>AAT	p.K483N		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	483	Cytoplasmic (By similarity).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGCCCTGAAGAATCGGCAAA	0.433													T	237617847	G	T	237617847	3	4	104	1	0	0	0	0	1	0	0	0	13769	933	33	5	1507	5	RYR2	1	237617847	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	625299	237617847	11632774	739	67353											
RYR2	6262	broad.mit.edu	37	chr1	237880516	237880516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcagctgtttctgatcagGaaaggaagaaaatgaagcgc	13	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:237880516G>A	uc001hyl.1	+	72	10462	c.10342G>A	c.(10342-10344)GAA>AAA	p.E3448K	RYR2_uc010pxz.1_Missense_Mutation_p.E403K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3448					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCTGATCAGGAAAGGAAGAA	0.463													A	237880516	G	A	237880516	3	1	104	1	0	0	0	0	1	0	0	0	13769	1175	41	4	10628	4	RYR2	1	237880516	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	262669	237880516	11370105	740	67354											
RYR2	6262	broad.mit.edu	37	chr1	237935360	237935360	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcaataatacaactgtcaAcataattatctccactgtag	5	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:237935360A>G	uc001hyl.1	+	86	11726	c.11606A>G	c.(11605-11607)AAC>AGC	p.N3869S	RYR2_uc010pya.1_Missense_Mutation_p.N284S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3869					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAACTGTCAACATAATTATC	0.338													G	237935360	A	G	237935360	3	3	104	1	0	0	0	0	1	0	0	0	13769	43	2	3	11948	3	RYR2	1	237935360	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	54844	237935360	11315261	741	67355											
RYR2	6262	broad.mit.edu	37	chr1	237947276	237947276	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttcgtcaaacgcttccaCgaacctgcgaaggacatcgg	11	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:237947276C>T	uc001hyl.1	+	90	12384	c.12264C>T	c.(12262-12264)CAC>CAT	p.H4088H	RYR2_uc010pya.1_Silent_p.H503H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4088					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACGCTTCCACGAACCTGCGA	0.493													T	237947276	C	T	237947276	2	4	104	1	0	0	0	0	0	0	0	1	13769	535	19	1		1	RYR2	1	237947276	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	11916	237947276	11303345	742	67356											
RYR2	6262	broad.mit.edu	37	chr1	237947421	237947421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccctttctgggccgcatcGaaatcatgggaagcgccaaa	11	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:237947421G>A	uc001hyl.1	+	90	12529	c.12409G>A	c.(12409-12411)GAA>AAA	p.E4137K	RYR2_uc010pya.1_Missense_Mutation_p.E552K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4137					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGCCGCATCGAAATCATGGG	0.512													A	237947421	G	A	237947421	3	1	104	1	0	0	0	0	1	0	0	0	13769	1059	37	1	12767	1	RYR2	1	237947421	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	145	237947421	11303200	743	67357											
RYR2	6262	broad.mit.edu	37	chr1	237947567	237947567	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaggcggagagaaagagaaGatggaactctttgtgaactt	14	4	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:237947567G>T	uc001hyl.1	+	90	12675	c.12555G>T	c.(12553-12555)AAG>AAT	p.K4185N	RYR2_uc010pya.1_Missense_Mutation_p.K600N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4185					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAAAGAGAAGATGGAACTCT	0.517													T	237947567	G	T	237947567	3	4	104	1	0	0	0	0	1	0	0	0	13769	933	33	5	12913	5	RYR2	1	237947567	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	146	237947567	11303054	744	67358											
CHRM3	1131	broad.mit.edu	37	chr1	240071148	240071148	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgacctacatcatcatgaatCgatgggccttagggaacttg	10	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:240071148C>T	uc001hyp.2	+	5	1176	c.397C>T	c.(397-399)CGA>TGA	p.R133*		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	133	Extracellular (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CATCATGAATCGATGGGCCTT	0.478													T	240071148	C	T	240071148	4	4	104	1	0	0	0	0	0	1	0	0	3378	876	31	1	399	1	CHRM3	1	240071148	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2123581	240071148	9179473	745	67359											
FMN2	56776	broad.mit.edu	37	chr1	240370340	240370340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taggattttagaggcgaaatCgatacagacttcccccacgg	10	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:240370340C>T	uc010pyd.1	+	5	2453	c.2228C>T	c.(2227-2229)TCG>TTG	p.S743L	FMN2_uc010pye.1_Missense_Mutation_p.S747L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	743					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGGCGAAATCGATACAGACT	0.572													T	240370340	C	T	240370340	3	4	104	1	0	0	0	0	1	0	0	0	5950	893	31	1	2246	1	FMN2	1	240370340	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	299192	240370340	8880281	746	67360											
FMN2	56776	broad.mit.edu	37	chr1	240492436	240492436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgatcttccaaagacaagGaaaatgccaagtctctggac	9	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:240492436G>A	uc010pyd.1	+	9	4501	c.4276G>A	c.(4276-4278)GAA>AAA	p.E1426K	FMN2_uc010pye.1_Missense_Mutation_p.E1430K|FMN2_uc010pyf.1_Missense_Mutation_p.E72K|FMN2_uc010pyg.1_Missense_Mutation_p.E22K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1426	FH2.			EN -> TR (in Ref. 3; AAF72885).	actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAAAGACAAGGAAAATGCCAA	0.438													A	240492436	G	A	240492436	3	1	104	1	0	0	0	0	1	0	0	0	5950	1175	41	4	4310	4	FMN2	1	240492436	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	122096	240492436	8758185	747	67361											
FMN2	56776	broad.mit.edu	37	chr1	240492457	240492457	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgccaagtctctggacAaacctgaacagtaagcatgt	8	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:240492457A>C	uc010pyd.1	+	9	4522	c.4297A>C	c.(4297-4299)AAA>CAA	p.K1433Q	FMN2_uc010pye.1_Missense_Mutation_p.K1437Q|FMN2_uc010pyf.1_Missense_Mutation_p.K79Q|FMN2_uc010pyg.1_Missense_Mutation_p.K29Q	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1433	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GTCTCTGGACAAACCTGAACA	0.448													C	240492457	A	C	240492457	3	2	104	1	0	0	0	0	1	0	0	0	5950	131	5	5	4331	5	FMN2	1	240492457	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	21	240492457	8758164	748	67362											
FMN2	56776	broad.mit.edu	37	chr1	240497233	240497233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tattgtttcgtattatctccGaaattttgatgaggtaagac	8	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:240497233G>A	uc010pyd.1	+	12	4856	c.4631G>A	c.(4630-4632)CGA>CAA	p.R1544Q	FMN2_uc010pye.1_Missense_Mutation_p.R1548Q|FMN2_uc010pyf.1_Missense_Mutation_p.R190Q|FMN2_uc010pyg.1_Missense_Mutation_p.R140Q	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1544	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TATTATCTCCGAAATTTTGAT	0.279													A	240497233	G	A	240497233	3	1	104	1	0	0	0	0	1	0	0	0	5950	1058	37	1	4677	1	FMN2	1	240497233	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4776	240497233	8753388	749	67363											
WDR64	128025	broad.mit.edu	37	chr1	241946608	241946608	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctttcctggcgtgctcattCtttggaaattattcaagtaa	8	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:241946608C>A	uc001hzf.1	+	12	1412	c.1259C>A	c.(1258-1260)TCT>TAT	p.S420Y	WDR64_uc001hzg.1_Missense_Mutation_p.S333Y	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	WD repeat domain 64	867	WD 12.									skin(1)	1	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CGTGCTCATTCTTTGGAAATT	0.383													A	241946608	C	A	241946608	3	1	104	1	0	0	0	0	1	0	0	0	17312	913	32	5	2686	5	WDR64	1	241946608	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1449375	241946608	7304013	750	67364											
WDR64	128025	broad.mit.edu	37	chr1	241951289	241951289	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ataaaagaagaaagcaagttCacagagaagcaaaaatatga	8	4	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:241951289C>A	uc001hzf.1	+	13	1626	c.1473C>A	c.(1471-1473)TTC>TTA	p.F491L	WDR64_uc001hzg.1_Missense_Mutation_p.F404L	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	WD repeat domain 64	938										skin(1)	1	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AAAGCAAGTTCACAGAGAAGC	0.348													A	241951289	C	A	241951289	3	1	104	1	0	0	0	0	1	0	0	0	17312	825	29	5	2904	5	WDR64	1	241951289	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4681	241951289	7299332	751	67365											
PLD5	200150	broad.mit.edu	37	chr1	242271009	242271009	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttggctatttcagtgcaaatCgctttaagagatgaaataaa	8	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:242271009C>T	uc001hzn.1	-	8	1330	c.1203G>A	c.(1201-1203)GCG>GCA	p.A401A	PLD5_uc001hzl.3_Silent_p.A339A|PLD5_uc001hzm.3_Silent_p.A191A|PLD5_uc001hzo.1_Silent_p.A309A			Q8N7P1	PLD5_HUMAN	RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;	401						integral to membrane	catalytic activity			ovary(6)	6	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CAGTGCAAATCGCTTTAAGAG	0.373													T	242271009	C	T	242271009	2	4	104	1	0	0	0	0	0	0	0	1	12049	871	31	1		1	PLD5	1	242271009	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	319720	242271009	6979612	752	67366											
PLD5	200150	broad.mit.edu	37	chr1	242271076	242271076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccagaagcttaaaaggagtCgaactctaacgcttcgtaaa	8	9	1	1	rs147447408		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:242271076C>T	uc001hzn.1	-	8	1263	c.1136G>A	c.(1135-1137)CGA>CAA	p.R379Q	PLD5_uc001hzl.3_Missense_Mutation_p.R317Q|PLD5_uc001hzm.3_Missense_Mutation_p.R169Q|PLD5_uc001hzo.1_Missense_Mutation_p.R287Q			Q8N7P1	PLD5_HUMAN	RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;	379						integral to membrane	catalytic activity			ovary(6)	6	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TAAAAGGAGTCGAACTCTAAC	0.363													T	242271076	C	T	242271076	3	4	104	1	0	0	0	0	1	0	0	0	12049	884	31	1	486	1	PLD5	1	242271076	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	67	242271076	6979545	753	67367											
AKT3	10000	broad.mit.edu	37	chr1	243778458	243778458	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagttagagtgtgtgccacTtcatcctacaaaagaaaaaa	7	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:243778458T>C	uc001iab.1	-	6	648	c.567A>G	c.(565-567)GAA>GAG	p.E189E	AKT3_uc001hzz.1_Silent_p.E189E	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	AKT3 kinase isoform 1	189	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			TGTGTGCCACTTCATCCTACA	0.333													C	243778458	T	C	243778458	2	2	104	1	0	0	0	0	0	0	0	1	481	1606	56	3		3	AKT3	1	243778458	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1507382	243778458	5472163	754	67368											
ZNF238	10472	broad.mit.edu	37	chr1	244217801	244217801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtcacctccgtgagggattCggcagatgttgactgtgtgc	14	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:244217801C>T	uc001iae.2	+	1	1220	c.698C>T	c.(697-699)TCG>TTG	p.S233L	ZNF238_uc001iad.3_Missense_Mutation_p.S242L|ZNF238_uc001iaf.1_Intron	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	233				KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHAT AAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSS LSGVENLNSSYFSSQ -> IEHPAQQKGLGGRAWEHVDAIA LRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE (in Ref. 1; AAA81368).	negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			GTGAGGGATTCGGCAGATGTT	0.532													T	244217801	C	T	244217801	3	4	104	1	0	0	0	0	1	0	0	0	17787	893	31	1	731	1	ZNF238	1	244217801	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	439343	244217801	5032820	755	67369											
C1orf100	200159	broad.mit.edu	37	chr1	244552296	244552296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcgctgaatcctcgaccGcttaattcactgccagagct	8	13	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:244552296G>A	uc001iah.2	+	5	482	c.369G>A	c.(367-369)CCG>CCA	p.P123P	C1orf100_uc001iai.2_Silent_p.P91P	NM_001012970	NP_001012988	Q5SVJ3	CA100_HUMAN	hypothetical protein LOC200159	123											0	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)			ATCCTCGACCGCTTAATTCAC	0.353													A	244552296	G	A	244552296	2	1	104	1	0	0	0	0	0	0	0	1	1975	1074	38	1		1	C1orf100	1	244552296	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	334495	244552296	4698325	756	67370											
HNRNPU	3192	broad.mit.edu	37	chr1	245022042	245022042	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaacttacagcaaaacatgTaatcacatcattttcatcaa	2	9	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:245022042T>C	uc001iaz.1	-	6	1437	c.1219A>G	c.(1219-1221)ACA>GCA	p.T407A	HNRNPU_uc001iaw.1_5'Flank|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Missense_Mutation_p.T131A|HNRNPU_uc001iba.1_Missense_Mutation_p.T388A|HNRNPU_uc001ibb.1_Missense_Mutation_p.T95A	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	407	B30.2/SPRY.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding				0	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			GCAAAACATGTAATCACATCA	0.308													C	245022042	T	C	245022042	3	2	104	1	0	0	0	0	1	0	0	0	7273	1638	57	3	1294	3	HNRNPU	1	245022042	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	469746	245022042	4228579	757	67371											
EFCAB2	84288	broad.mit.edu	37	chr1	245245415	245245415	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaacccactggatacattCgattcgaaaaatttcttccg	6	10	1	1	rs148124964		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:245245415C>T	uc001ibd.2	+	5	763	c.622C>T	c.(622-624)CGA>TGA	p.R208*	EFCAB2_uc001ibc.2_Nonsense_Mutation_p.R72*|EFCAB2_uc010pyo.1_Nonsense_Mutation_p.R82*|EFCAB2_uc010pyp.1_Nonsense_Mutation_p.R72*|EFCAB2_uc001ibe.2_RNA	NR_026586		Q5VUJ9	EFCB2_HUMAN	RecName: Full=EF-hand calcium-binding domain-containing protein 2;	208							calcium ion binding				0	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			TGGATACATTCGATTCGAAAA	0.259													T	245245415	C	T	245245415	4	4	104	1	0	0	0	0	0	1	0	0	4934	876	31	1	228	1	EFCAB2	1	245245415	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	223373	245245415	4005206	758	67372											
KIF26B	55083	broad.mit.edu	37	chr1	245849116	245849116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcagcgaggagcccagcaGctttcctttcgaagaactgc	12	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:245849116G>A	uc001ibf.1	+	12	3271	c.2831G>A	c.(2830-2832)AGC>AAC	p.S944N	KIF26B_uc001ibg.1_Missense_Mutation_p.S562N|KIF26B_uc001ibh.1_Missense_Mutation_p.S186N	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	944					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GAGCCCAGCAGCTTTCCTTTC	0.617													A	245849116	G	A	245849116	3	1	104	1	0	0	0	0	1	0	0	0	8295	971	34	2	2877	2	KIF26B	1	245849116	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	603701	245849116	3401505	759	67373											
TFB2M	64216	broad.mit.edu	37	chr1	246727664	246727664	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atacctccaaatgtggaataAaagttttgtcactttcgagc	7	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:246727664A>C	uc001ibn.2	-	2	511	c.386T>G	c.(385-387)TTT>TGT	p.F129C	CNST_uc001ibo.3_5'Flank|CNST_uc001ibp.2_5'Flank|TFB2M_uc010pys.1_RNA	NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	129					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			ovary(1)	1	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			ATGTGGAATAAAAGTTTTGTC	0.388													C	246727664	A	C	246727664	3	2	104	1	0	0	0	0	1	0	0	0	15791	14	1	5	832	5	TFB2M	1	246727664	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	878548	246727664	2522957	760	67374											
ZNF695	57116	broad.mit.edu	37	chr1	247162690	247162690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgttcacgttccagggCtctttccttgcctccagaca	8	14	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:247162690C>T	uc009xgu.2	-	3	364	c.219G>A	c.(217-219)GAG>GAA	p.E73E	ZNF695_uc001ica.2_RNA|ZNF695_uc001icb.1_RNA|ZNF695_uc009xgt.1_RNA|ZNF695_uc001ibx.2_Silent_p.E73E|ZNF695_uc001iby.2_RNA|ZNF695_uc001icc.2_Silent_p.E61E	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	73	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CGTTCCAGGGCTCTTTCCTTG	0.463													T	247162690	C	T	247162690	2	4	104	1	0	0	0	0	0	0	0	1	18095	796	28	2		2	ZNF695	1	247162690	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	435026	247162690	2087931	761	67375											
NLRP3	114548	broad.mit.edu	37	chr1	247582372	247582372	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagcaaaaagagatgagccGaagtggggtgagtggaagga	17	3	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:247582372G>A	uc001icr.2	+	3	414	c.276G>A	c.(274-276)CCG>CCA	p.P92P	NLRP3_uc001ics.2_Silent_p.P92P|NLRP3_uc001icu.2_Silent_p.P92P|NLRP3_uc001icw.2_Silent_p.P92P|NLRP3_uc001icv.2_Silent_p.P92P|NLRP3_uc010pyw.1_Silent_p.P90P|NLRP3_uc001ict.1_Silent_p.P90P	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	92	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAGATGAGCCGAAGTGGGGTG	0.333													A	247582372	G	A	247582372	2	1	104	1	0	0	0	0	0	0	0	1	10478	1045	37	1		1	NLRP3	1	247582372	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	419682	247582372	1668249	762	67376											
NLRP3	114548	broad.mit.edu	37	chr1	247588450	247588450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaaaactatggcaaattcGaaaaggggtatttgattttt	10	3	0	1	rs104895389		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:247588450G>A	uc001icr.2	+	5	1843	c.1705G>A	c.(1705-1707)GAA>AAA	p.E569K	NLRP3_uc001ics.2_Missense_Mutation_p.E569K|NLRP3_uc001icu.2_Missense_Mutation_p.E569K|NLRP3_uc001icw.2_Missense_Mutation_p.E569K|NLRP3_uc001icv.2_Missense_Mutation_p.E569K|NLRP3_uc010pyw.1_Missense_Mutation_p.E567K|NLRP3_uc001ict.1_Missense_Mutation_p.E567K	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	569					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGGCAAATTCGAAAAGGGGTA	0.463													A	247588450	G	A	247588450	3	1	104	1	0	0	0	0	1	0	0	0	10478	1059	37	1	1715	1	NLRP3	1	247588450	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	6078	247588450	1662171	763	67377											
OR2G3	81469	broad.mit.edu	37	chr1	247769596	247769596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtagaggcaaggcacaaaGccttcagcacctgctcctcc	9	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:247769596G>A	uc010pyz.1	+	1	709	c.709G>A	c.(709-711)GCC>ACC	p.A237T		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	237	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AAGGCACAAAGCCTTCAGCAC	0.478													A	247769596	G	A	247769596	3	1	104	1	0	0	0	0	1	0	0	0	10999	971	34	2	711	2	OR2G3	1	247769596	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	181146	247769596	1481025	764	67378											
OR14A16	284532	broad.mit.edu	37	chr1	247978292	247978292	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaatccagtggaaagaaatAacacaaccagcaagtgtgga	10	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:247978292A>G	uc001idm.1	-	1	740	c.740T>C	c.(739-741)TTA>TCA	p.L247S		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A,	247	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GGAAAGAAATAACACAACCAG	0.438													G	247978292	A	G	247978292	3	3	104	1	0	0	0	0	1	0	0	0	10945	372	13	3	193	3	OR14A16	1	247978292	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	208696	247978292	1272329	765	67379											
TRIM58	25893	broad.mit.edu	37	chr1	248039649	248039649	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacacattcaaccaactctTctctggtcttcttcggcctt	4	15	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:248039649T>G	uc001ido.2	+	6	1367	c.1319T>G	c.(1318-1320)TTC>TGC	p.F440C	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	440	B30.2/SPRY.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACCAACTCTTCTCTGGTCTT	0.438													G	248039649	T	G	248039649	3	3	104	1	0	0	0	0	1	0	0	0	16528	1783	62	5	1341	5	TRIM58	1	248039649	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	61357	248039649	1210972	766	67380											
OR2AK2	391191	broad.mit.edu	37	chr1	248128684	248128684	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attttggtttcagccatgaaAacaggaaatcaaagttttgg	9	5	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:248128684A>C	uc010pzd.1	+	1	51	c.51A>C	c.(49-51)AAA>AAC	p.K17N	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	17	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CAGCCATGAAAACAGGAAATC	0.244													C	248128684	A	C	248128684	3	2	104	1	0	0	0	0	1	0	0	0	10986	11	1	5	53	5	OR2AK2	1	248128684	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	89035	248128684	1121937	767	67381											
OR2L2	26246	broad.mit.edu	37	chr1	248202363	248202363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtacgtccaagatccctgcGatctccaacagaggacaaga	9	12	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:248202363G>A	uc001idw.2	+	1	890	c.794G>A	c.(793-795)CGA>CAA	p.R265Q	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	265	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AGATCCCTGCGATCTCCAACA	0.502													A	248202363	G	A	248202363	3	1	104	1	0	0	0	0	1	0	0	0	11007	1058	37	1	796	1	OR2L2	1	248202363	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	73679	248202363	1048258	768	67382											
OR2L3	391192	broad.mit.edu	37	chr1	248224049	248224049	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcccaccatcaagaatTggccttttcctcttcatcct	3	15	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:248224049T>C	uc001idx.1	+	1	66	c.66T>C	c.(64-66)ATT>ATC	p.I22I	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CATCAAGAATTGGCCTTTTCC	0.403													C	248224049	T	C	248224049	2	2	104	1	0	0	0	0	0	0	0	1	11008	1800	63	3		3	OR2L3	1	248224049	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	21686	248224049	1026572	769	67383											
OR2L3	391192	broad.mit.edu	37	chr1	248224853	248224853	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaccccatcatctatagCctgaggaacaaggaggtgat	9	11	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:248224853C>T	uc001idx.1	+	1	870	c.870C>T	c.(868-870)AGC>AGT	p.S290S	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	290	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCATCTATAGCCTGAGGAACA	0.498													T	248224853	C	T	248224853	2	4	104	1	0	0	0	0	0	0	0	1	11008	738	26	2		2	OR2L3	1	248224853	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	804	248224853	1025768	770	67384											
OR2M4	26245	broad.mit.edu	37	chr1	248403071	248403071	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtcggccttctacactattCtcacccctatgctgaaccct	5	16	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:248403071C>A	uc010pzh.1	+	1	841	c.841C>A	c.(841-843)CTC>ATC	p.L281I		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M,	281	Helical; Name=7; (Potential).			LT -> SH (in Ref. 4).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTACACTATTCTCACCCCTAT	0.458													A	248403071	C	A	248403071	3	1	104	1	0	0	0	0	1	0	0	0	11012	913	32	5	843	5	OR2M4	1	248403071	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	178218	248403071	847550	771	67385											
OR2T12	127064	broad.mit.edu	37	chr1	248458301	248458301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagatgtacatggcgttttCgaagactgaagtgtcagcac	12	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:248458301C>T	uc010pzj.1	-	1	580	c.580G>A	c.(580-582)GAA>AAA	p.E194K		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	194	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ATGGCGTTTTCGAAGACTGAA	0.537													T	248458301	C	T	248458301	3	4	104	1	0	0	0	0	1	0	0	0	11019	893	31	1	385	1	OR2T12	1	248458301	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	55230	248458301	792320	772	67386											
OR2M7	391196	broad.mit.edu	37	chr1	248486997	248486997	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtcacttccttgttgcggaGgctataaatgagaggattca	12	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:248486997G>T	uc010pzk.1	-	1	874	c.874C>A	c.(874-876)CTC>ATC	p.L292I		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	292	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGTTGCGGAGGCTATAAATG	0.433													T	248486997	G	T	248486997	3	4	104	1	0	0	0	0	1	0	0	0	11014	1000	35	5	67	5	OR2M7	1	248486997	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	28696	248486997	763624	773	67387											
OR2T4	127074	broad.mit.edu	37	chr1	248525681	248525681	+	Frame_Shift_Del	DEL	A	A	-													tgaactcagcagagggccggAaaaaggcctttgccacctgc							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:248525680_248525680GA>G	uc001ieh.1	+	0	798	c.798_798GA>G	c.(796-798)cggfs	p.R266fs		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGAGGGCCGGAAAAAGGCCT	0.552													-	248525681	A	-	248525681	7	5	104	1	0	1	0	1	0	0	0	0	11027	247	9	0	801	0	OR2T4	1	248525681	Frame_Shift_Del	DEL	A	TCGA-BR-8680-01A-11D-2394-08	38684	248525681	724940	774	67388											
OR2T1	26696	broad.mit.edu	37	chr1	248569654	248569654	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccacctttccttaattgAcatgatgtatatttccacta	4	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:248569654A>G	uc010pzm.1	+	1	359	c.359A>G	c.(358-360)GAC>GGC	p.D120G		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	120	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCTTAATTGACATGATGTAT	0.458													G	248569654	A	G	248569654	3	3	104	1	0	0	0	0	1	0	0	0	11016	275	10	3	361	3	OR2T1	1	248569654	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	43973	248569654	680967	775	67389											
OR2T1	26696	broad.mit.edu	37	chr1	248570369	248570369	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagagggccttggggaggttCaagggtcctcaaagggtgtc	17	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:248570369C>A	uc010pzm.1	+	1	1074	c.1074C>A	c.(1072-1074)TTC>TTA	p.F358L		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	358	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGGGAGGTTCAAGGGTCCTC	0.517													A	248570369	C	A	248570369	3	1	104	1	0	0	0	0	1	0	0	0	11016	825	29	5	1076	5	OR2T1	1	248570369	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	715	248570369	680252	776	67390											
OR2G6	391211	broad.mit.edu	37	chr1	248684964	248684964	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatggaggaaaccaacaAcagctctgaaaagggatttc	9	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:248684964A>G	uc001ien.1	+	1	17	c.17A>G	c.(16-18)AAC>AGC	p.N6S		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	6	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAAACCAACAACAGCTCTGAA	0.403													G	248684964	A	G	248684964	3	3	104	1	0	0	0	0	1	0	0	0	11000	43	2	3	19	3	OR2G6	1	248684964	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	114595	248684964	565657	777	67391											
OR2G6	391211	broad.mit.edu	37	chr1	248685634	248685634	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagctgtgttaaggataaaAtcagctgcgggccgccaaaa	11	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:248685634A>C	uc001ien.1	+	1	687	c.687A>C	c.(685-687)AAA>AAC	p.K229N		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAAGGATAAAATCAGCTGCGG	0.468													C	248685634	A	C	248685634	3	2	104	1	0	0	0	0	1	0	0	0	11000	98	4	5	689	5	OR2G6	1	248685634	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	670	248685634	564987	778	67392											
OR14I1	401994	broad.mit.edu	37	chr1	248845530	248845530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcagcagaaacagcccggCgtgcagcacctgcagctccc	10	16	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr1:248845530C>T	uc001ieu.1	-	1	76	c.76G>A	c.(76-78)GCC>ACC	p.A26T		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I,	26	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AACAGCCCGGCGTGCAGCACC	0.493													T	248845530	C	T	248845530	3	4	104	1	0	0	0	0	1	0	0	0	10947	768	27	1	863	1	OR14I1	1	248845530	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	159896	248845530	405091	779	67393											
SNTG2	54221	broad.mit.edu	37	chr2	1093883	1093883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctaaaatgttttaaagcGcagaactgttacactccgca	6	9	1	1	rs138780480	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:1093883G>A	uc002qwq.2	+	3	340	c.212G>A	c.(211-213)CGC>CAC	p.R71H	SNTG2_uc002qwp.2_RNA|SNTG2_uc010ewi.2_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	71					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GTTTTAAAGCGCAGAACTGTT	0.353													A	1093883	G	A	1093883	3	1	104	1	0	0	0	0	1	0	0	0	14875	1101	38	1	222	1	SNTG2	2	1093883	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08		1093883	242105490	780	67394											
SNTG2	54221	broad.mit.edu	37	chr2	1243521	1243521	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctccacagatgaagatggcGaacaaatgctgctctccttc	8	12	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:1243521G>A	uc002qwq.2	+	11	989	c.861G>A	c.(859-861)GCG>GCA	p.A287A	SNTG2_uc010ewi.2_Silent_p.A160A	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	287					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGAAGATGGCGAACAAATGCT	0.488													A	1243521	G	A	1243521	2	1	104	1	0	0	0	0	0	0	0	1	14875	1045	37	1		1	SNTG2	2	1243521	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	149638	1243521	241955852	781	67395											
PXDN	7837	broad.mit.edu	37	chr2	1647288	1647288	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataggatcctggccagcgaCgtctgcttgatctgagtcag	12	11	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:1647288C>T	uc002qxa.2	-	19	3868	c.3804G>A	c.(3802-3804)ACG>ACA	p.T1268T		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1268					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGGCCAGCGACGTCTGCTTGA	0.602													T	1647288	C	T	1647288	2	4	104	1	0	0	0	0	0	0	0	1	12847	523	19	1		1	PXDN	2	1647288	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	403767	1647288	241552085	782	67396											
PXDN	7837	broad.mit.edu	37	chr2	1652186	1652186	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcattttccccgccaccccGaacagccccctgagaagcgg	9	19	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:1652186G>A	uc002qxa.2	-	17	3430	c.3366C>T	c.(3364-3366)TTC>TTT	p.F1122F		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1122					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCGCCACCCCGAACAGCCCCC	0.612													A	1652186	G	A	1652186	2	1	104	1	0	0	0	0	0	0	0	1	12847	1049	37	1		1	PXDN	2	1652186	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4898	1652186	241547187	783	67397											
PXDN	7837	broad.mit.edu	37	chr2	1680706	1680706	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccccaactcacttgtttcGcagccagatgatctcaggct	9	14	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:1680706G>A	uc002qxa.2	-	8	905	c.841C>T	c.(841-843)CGA>TGA	p.R281*	PXDN_uc002qxb.1_Nonsense_Mutation_p.R281*|PXDN_uc002qxc.1_Nonsense_Mutation_p.R98*	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	281	Ig-like C2-type 1.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CACTTGTTTCGCAGCCAGATG	0.582													A	1680706	G	A	1680706	4	1	104	1	0	0	0	0	0	1	0	0	12847	1095	38	1	3662	1	PXDN	2	1680706	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	28520	1680706	241518667	784	67398											
ALLC	55821	broad.mit.edu	37	chr2	3729284	3729284	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgcagccactcctgaggAgtttgaagccattgctgagg	13	10	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:3729284A>C	uc010ewt.2	+	6	520	c.359A>C	c.(358-360)GAG>GCG	p.E120A		NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	allantoicase isoform a	139							allantoicase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ACTCCTGAGGAGTTTGAAGCC	0.473										HNSCC(21;0.051)			C	3729284	A	C	3729284	3	2	104	1	0	0	0	0	1	0	0	0	534	304	11	5	377	5	ALLC	2	3729284	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2048578	3729284	239470089	785	67399											
ALLC	55821	broad.mit.edu	37	chr2	3743399	3743399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagacctagtggccatcGcttttgggggtgtctgtgta	14	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:3743399G>A	uc010ewt.2	+	8	765	c.604G>A	c.(604-606)GCT>ACT	p.A202T	ALLC_uc002qyf.2_5'UTR	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	allantoicase isoform a	221							allantoicase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		AGTGGCCATCGCTTTTGGGGG	0.438										HNSCC(21;0.051)			A	3743399	G	A	3743399	3	1	104	1	0	0	0	0	1	0	0	0	534	1087	38	1	630	1	ALLC	2	3743399	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	14115	3743399	239455974	786	67400											
RNF144A	9781	broad.mit.edu	37	chr2	7179884	7179884	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtgacgacgacccgttacCcacctagaggaagcgcgatg	13	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:7179884C>A	uc002qys.2	+	9	1314	c.872C>A	c.(871-873)CCC>CAC	p.P291H	RNF144A_uc002qyt.2_Missense_Mutation_p.P140H	NM_014746	NP_055561	P50876	R144A_HUMAN	ring finger protein 144	291						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			ovary(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		GACCCGTTACCCACCTAGAGG	0.582													A	7179884	C	A	7179884	3	1	104	1	0	0	0	0	1	0	0	0	13445	623	22	5	898	5	RNF144A	2	7179884	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3436485	7179884	236019489	787	67401											
TAF1B	9014	broad.mit.edu	37	chr2	10045058	10045058	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttttagatttgcctcgttTtccagacataactgaagact	6	8	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:10045058T>G	uc002qzz.2	+	9	978	c.878T>G	c.(877-879)TTT>TGT	p.F293C	TAF1B_uc010exc.2_Missense_Mutation_p.F293C|TAF1B_uc002qzy.3_Missense_Mutation_p.F293C|TAF1B_uc010yja.1_Missense_Mutation_p.F38C|TAF1B_uc010exd.2_Missense_Mutation_p.F38C	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	TBP-associated factor 1B	293					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|breast(1)|pancreas(1)	3	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTGCCTCGTTTTCCAGACATA	0.388													G	10045058	T	G	10045058	3	3	104	1	0	0	0	0	1	0	0	0	15517	1841	64	5	912	5	TAF1B	2	10045058	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2865174	10045058	233154315	788	67402											
ROCK2	9475	broad.mit.edu	37	chr2	11347936	11347937	+	Frame_Shift_Ins	INS	-	-	T													ctttaactgcttttctgacaINStttttagtgtgttaacctgt							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:11347936_11347937insT	uc002rbd.1	-	20	2913_2914	c.2464_2465insA	c.(2464-2466)ATGfs	p.M822fs		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	822	Potential.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CTTTTCTGACATTTTTAGTGTG	0.342													T	11347937	-	T	11347936	7	5	104	1	0	1	1	0	0	0	0	0	13518	217	8	0	1757	0	ROCK2	2	11347936	Frame_Shift_Ins	INS	-	TCGA-BR-8680-01A-11D-2394-08	1302878	11347936	231851437	789	67403	313	2									
ROCK2	9475	broad.mit.edu	37	chr2	11347937	11347938	+	Frame_Shift_Ins	INS	-	-	T													tttaactgcttttctgacatINSttttagtgtgttaacctgtt							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:11347936_11347937A>AT	uc002rbd.1	-	19	2913_2914	c.2464_2465T>AT	c.(2464-2466)atgfs	p.M822fs		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	822					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CTTTTCTGACATTTTTAGTGTG	0.342													T	11347938	-	T	11347937	7	5	104	1	0	1	1	0	0	0	0	0	13518	1493	52	0	1758	0	ROCK2	2	11347937	Frame_Shift_Ins	INS	-	TCGA-BR-8680-01A-11D-2394-08	1	11347937	231851436	790	67404	313	2									
GREB1	9687	broad.mit.edu	37	chr2	11696778	11696778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacagctgaagacgacacGctttgaagaggtcttgcaca	12	9	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:11696778G>A	uc002rbk.1	+	2	338	c.38G>A	c.(37-39)CGC>CAC	p.R13H	GREB1_uc002rbl.2_Missense_Mutation_p.R13H|GREB1_uc002rbm.2_Intron|GREB1_uc002rbn.1_Missense_Mutation_p.R13H	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	13						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AAGACGACACGCTTTGAAGAG	0.517													A	11696778	G	A	11696778	3	1	104	1	0	0	0	0	1	0	0	0	6760	1087	38	1	40	1	GREB1	2	11696778	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	348841	11696778	231502595	791	67405											
NTSR2	23620	broad.mit.edu	37	chr2	11800191	11800191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccacgcgtcatcaggtaCgtagcagtacatgagcctgc	11	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:11800191C>T	uc002rbq.3	-	3	1041	c.967G>A	c.(967-969)GTA>ATA	p.V323I		NM_012344	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	323	Extracellular (Potential).				sensory perception	integral to plasma membrane					0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	TCATCAGGTACGTAGCAGTAC	0.602													T	11800191	C	T	11800191	3	4	104	1	0	0	0	0	1	0	0	0	10711	536	19	1	273	1	NTSR2	2	11800191	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	103413	11800191	231399182	792	67406											
TRIB2	28951	broad.mit.edu	37	chr2	12863671	12863671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaaattcatctttaaggacGaagagaggtaggtctcatcc	11	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:12863671G>A	uc002rbv.3	+	2	1992	c.556G>A	c.(556-558)GAA>AAA	p.E186K	TRIB2_uc010yjp.1_Missense_Mutation_p.E50K	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	tribbles homolog 2	186	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			stomach(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTTAAGGACGAAGAGAGGTA	0.532													A	12863671	G	A	12863671	3	1	104	1	0	0	0	0	1	0	0	0	16480	1059	37	1	562	1	TRIB2	2	12863671	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1063480	12863671	230335702	793	67407											
NBAS	51594	broad.mit.edu	37	chr2	15601451	15601451	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagaatttccagggcttgtAcattactttcctgtacaaaa	6	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:15601451A>G	uc002rcc.1	-	21	2239	c.2213T>C	c.(2212-2214)GTA>GCA	p.V738A	NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	738										ovary(2)|liver(1)|skin(1)	4						CAGGGCTTGTACATTACTTTC	0.373													G	15601451	A	G	15601451	3	3	104	1	0	0	0	0	1	0	0	0	10186	391	14	3	5030	3	NBAS	2	15601451	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2737780	15601451	227597922	794	67408											
DDX1	1653	broad.mit.edu	37	chr2	15768807	15768807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagcaaaactacgtacatcGaattggcagagtaggaagag	11	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:15768807G>A	uc002rce.2	+	22	2093	c.1805G>A	c.(1804-1806)CGA>CAA	p.R602Q	DDX1_uc010yjq.1_Missense_Mutation_p.R510Q	NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	602	Helicase C-terminal.|Necessary for interaction with replicase polyprotein 1ab nsp14 of IBV.|Necessary for interaction with HNRNPK.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TACGTACATCGAATTGGCAGA	0.323													A	15768807	G	A	15768807	3	1	104	1	0	0	0	0	1	0	0	0	4341	1058	37	1	1891	1	DDX1	2	15768807	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	167356	15768807	227430566	795	67409											
FAM49A	81553	broad.mit.edu	37	chr2	16745275	16745275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctagtctaatggaaaactCgtaaaatctctttagcctca	5	10	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:16745275C>T	uc010exm.1	-	4	428	c.280G>A	c.(280-282)GAG>AAG	p.E94K	FAM49A_uc002rck.1_Missense_Mutation_p.E94K	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	94						intracellular					0	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			ATGGAAAACTCGTAAAATCTC	0.418													T	16745275	C	T	16745275	3	4	104	1	0	0	0	0	1	0	0	0	5575	893	31	1	723	1	FAM49A	2	16745275	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	976468	16745275	226454098	796	67410											
SMC6	79677	broad.mit.edu	37	chr2	17927099	17927099	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatttttcgcttaccaaagTagtacctttacattcgtctt	4	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:17927099T>C	uc002rco.2	-	3	411	c.115A>G	c.(115-117)ACT>GCT	p.T39A	SMC6_uc010exo.2_Missense_Mutation_p.T39A|SMC6_uc002rcn.2_Missense_Mutation_p.T39A|SMC6_uc002rcp.1_Missense_Mutation_p.T39A|SMC6_uc002rcq.2_Missense_Mutation_p.T39A|SMC6_uc002rcr.1_Missense_Mutation_p.T39A	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	39					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTACCAAAGTAGTACCTTTA	0.308													C	17927099	T	C	17927099	3	2	104	1	0	0	0	0	1	0	0	0	14787	1638	57	3	3264	3	SMC6	2	17927099	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1181824	17927099	225272274	797	67411											
NT5C1B	93034	broad.mit.edu	37	chr2	18737024	18737024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcagtcttcatgtaaggGcactggaagatccctgcgtt	10	10	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:18737024G>A	uc010exr.2	-	9	1490	c.1386C>T	c.(1384-1386)TGC>TGT	p.C462C	NT5C1B_uc002rcy.2_3'UTR|RDH14_uc002rcx.3_Silent_p.C148C	NM_033253	NP_150278	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 2	Error:Variant_position_missing_in_Q96P26_after_alignment					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TCATGTAAGGGCACTGGAAGA	0.443													A	18737024	G	A	18737024	2	1	104	1	0	0	0	0	0	0	0	1	10686	1195	42	2		2	NT5C1B	2	18737024	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	809925	18737024	224462349	798	67412											
WDR35	57539	broad.mit.edu	37	chr2	20135296	20135296	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaacccttcataatcctctAacatatagtaacattcagct	2	12	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:20135296A>G	uc002rdi.2	-	22	2624	c.2516T>C	c.(2515-2517)TTA>TCA	p.L839S	WDR35_uc002rdj.2_Missense_Mutation_p.L828S|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Missense_Mutation_p.L404S|WDR35_uc002rdk.3_Missense_Mutation_p.L404S	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	839										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATAATCCTCTAACATATAGTA	0.343													G	20135296	A	G	20135296	3	3	104	1	0	0	0	0	1	0	0	0	17286	372	13	3	1057	3	WDR35	2	20135296	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1398272	20135296	223064077	799	67413											
APOB	338	broad.mit.edu	37	chr2	21225916	21225916	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctttctggaacctcacgtcGatatcatcaatttgcctaat	6	11	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:21225916G>A	uc002red.2	-	29	12506	c.12378C>T	c.(12376-12378)ATC>ATT	p.I4126I		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4126					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACCTCACGTCGATATCATCAA	0.502													A	21225916	G	A	21225916	2	1	104	1	0	0	0	0	0	0	0	1	785	1048	37	1		1	APOB	2	21225916	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1090620	21225916	221973457	800	67414											
APOB	338	broad.mit.edu	37	chr2	21229095	21229095	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcttctccagcaaaatTttcttttacttcaaggttcc	6	10	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:21229095T>G	uc002red.2	-	26	10773	c.10645A>C	c.(10645-10647)AAT>CAT	p.N3549H		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3549					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCAGCAAAATTTTCTTTTACT	0.453													G	21229095	T	G	21229095	3	3	104	1	0	0	0	0	1	0	0	0	785	1841	64	5	3062	5	APOB	2	21229095	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	3179	21229095	221970278	801	67415											
APOB	338	broad.mit.edu	37	chr2	21231795	21231795	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtgttaaggatggtaaattCtggtgtggaaaacctggatg	15	3	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:21231795C>T	uc002red.2	-	26	8073	c.7945G>A	c.(7945-7947)GAA>AAA	p.E2649K		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2649					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGGTAAATTCTGGTGTGGAA	0.353													T	21231795	C	T	21231795	3	4	104	1	0	0	0	0	1	0	0	0	785	922	32	4	5762	4	APOB	2	21231795	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2700	21231795	221967578	802	67416											
APOB	338	broad.mit.edu	37	chr2	21233570	21233570	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtttttatcatactttacaAaagcaacaattgtaaattct	4	6	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:21233570A>C	uc002red.2	-	26	6298	c.6170T>G	c.(6169-6171)TTT>TGT	p.F2057C		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2057	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATACTTTACAAAAGCAACAAT	0.358													C	21233570	A	C	21233570	3	2	104	1	0	0	0	0	1	0	0	0	785	14	1	5	7537	5	APOB	2	21233570	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1775	21233570	221965803	803	67417											
APOB	338	broad.mit.edu	37	chr2	21235442	21235442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgactgaatttgatattcGaatctagaaatttgtggcgt	9	5	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:21235442G>A	uc002red.2	-	26	4426	c.4298C>T	c.(4297-4299)TCG>TTG	p.S1433L		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1433					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTGATATTCGAATCTAGAAA	0.368													A	21235442	G	A	21235442	3	1	104	1	0	0	0	0	1	0	0	0	785	1059	37	1	9409	1	APOB	2	21235442	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1872	21235442	221963931	804	67418											
APOB	338	broad.mit.edu	37	chr2	21238325	21238325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagaagcagtttggcaggcGaccagtgggcgaggatctca	17	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:21238325G>A	uc002red.2	-	22	3553	c.3425C>T	c.(3424-3426)TCG>TTG	p.S1142L		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1142					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTGGCAGGCGACCAGTGGGC	0.483													A	21238325	G	A	21238325	3	1	104	1	0	0	0	0	1	0	0	0	785	1059	37	1	10298	1	APOB	2	21238325	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2883	21238325	221961048	805	67419											
APOB	338	broad.mit.edu	37	chr2	21242777	21242777	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaccaaatgtaatgtgttGctggtgaagaacaaaaatac	10	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:21242777G>T	uc002red.2	-	19	2945	c.2817C>A	c.(2815-2817)GGC>GGA	p.G939G		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	939	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTAATGTGTTGCTGGTGAAGA	0.453													T	21242777	G	T	21242777	2	4	104	1	0	0	0	0	0	0	0	1	785	1333	46	5		5	APOB	2	21242777	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4452	21242777	221956596	806	67420											
ATAD2B	54454	broad.mit.edu	37	chr2	24033263	24033263	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtctatgcacagagaatcTttctagagtgtgcaaaagtg	10	6	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:24033263T>G	uc002rek.3	-	18	2671	c.2377A>C	c.(2377-2379)AGA>CGA	p.R793R	ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Silent_p.R38R|ATAD2B_uc002rej.3_5'UTR	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	793							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGAGAATCTTTCTAGAGTG	0.478													G	24033263	T	G	24033263	2	3	104	1	0	0	0	0	0	0	0	1	1072	1617	56	5		5	ATAD2B	2	24033263	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2790486	24033263	219166110	807	67421											
FKBP1B	2281	broad.mit.edu	37	chr2	24285954	24285954	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgagcttggggcagagggcGaagctgacctgcacccctga	15	11	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:24285954G>A	uc002rer.2	+	4	355	c.219G>A	c.(217-219)GCG>GCA	p.A73A	FKBP1B_uc002res.2_3'UTR|FKBP1B_uc002ret.2_RNA|FKBP1B_uc002reu.2_RNA	NM_004116	NP_004107	P68106	FKB1B_HUMAN	FK506 binding protein 1B, 12.6 kDa isoform a	73	PPIase FKBP-type.				'de novo' protein folding|negative regulation of heart rate|negative regulation of protein phosphatase type 2B activity|protein maturation by protein folding|protein refolding|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|regulation of ryanodine-sensitive calcium-release channel activity|response to redox state	calcium channel complex|sarcoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAGAGGGCGAAGCTGACCT	0.557													A	24285954	G	A	24285954	2	1	104	1	0	0	0	0	0	0	0	1	5907	1045	37	1		1	FKBP1B	2	24285954	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	252691	24285954	218913419	808	67422											
NCOA1	8648	broad.mit.edu	37	chr2	24888773	24888773	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcagatacagctaatgaagaGaatggaacaaggtaaaaaag	10	4	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:24888773G>T	uc002rfk.2	+	4	503	c.245G>T	c.(244-246)AGA>ATA	p.R82I	NCOA1_uc010eye.2_Missense_Mutation_p.R82I|NCOA1_uc002rfi.2_Intron|NCOA1_uc002rfj.2_Missense_Mutation_p.R82I|NCOA1_uc002rfl.2_Missense_Mutation_p.R82I	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	82									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTAATGAAGAGAATGGAACAA	0.303			T	PAX3	alveolar rhadomyosarcoma								T	24888773	G	T	24888773	3	4	104	1	0	0	0	0	1	0	0	0	10228	942	33	5	251	5	NCOA1	2	24888773	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	602819	24888773	218310600	809	67423											
ADCY3	109	broad.mit.edu	37	chr2	25050927	25050927	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggcgatgagggacagcAcggccacatagttgtaatac	14	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:25050927A>G	uc002rfs.3	-	13	2475	c.2276T>C	c.(2275-2277)GTG>GCG	p.V759A	ADCY3_uc002rfr.3_Intron|ADCY3_uc010ykm.1_Missense_Mutation_p.V759A	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	759	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GAGGGACAGCACGGCCACATA	0.597											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	25050927	A	G	25050927	3	3	104	1	0	0	0	0	1	0	0	0	295	159	6	3	1194	3	ADCY3	2	25050927	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	162154	25050927	218148446	810	67424											
ASXL2	55252	broad.mit.edu	37	chr2	25965983	25965983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagagaagattctgcctccGaaccctctgaatgagagtct	10	10	3	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:25965983G>A	uc002rgs.2	-	12	3444	c.3223C>T	c.(3223-3225)CGG>TGG	p.R1075W	ASXL2_uc002rgt.1_Intron	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	1075					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTGCCTCCGAACCCTCTGA	0.502													A	25965983	G	A	25965983	3	1	104	1	0	0	0	0	1	0	0	0	1067	1057	37	1	1088	1	ASXL2	2	25965983	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	915056	25965983	217233390	811	67425											
AGBL5	60509	broad.mit.edu	37	chr2	27275836	27275836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagccccaccatggagctgCgctgtgggggattgctgttc	14	13	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:27275836C>T	uc002rie.2	+	2	227	c.10C>T	c.(10-12)CGC>TGC	p.R4C	AGBL5_uc002ric.2_Missense_Mutation_p.R4C|AGBL5_uc002rid.2_Missense_Mutation_p.R4C|AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	4					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGGAGCTGCGCTGTGGGGG	0.562													T	27275836	C	T	27275836	3	4	104	1	0	0	0	0	1	0	0	0	378	768	27	1	12	1	AGBL5	2	27275836	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1309853	27275836	215923537	812	67426											
EMILIN1	11117	broad.mit.edu	37	chr2	27307347	27307347	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacccccaggccctgctggAcctccaggatcaccaggcaa	11	17	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:27307347A>G	uc002rii.3	+	5	2933	c.2505A>G	c.(2503-2505)GGA>GGG	p.G835G	EMILIN1_uc002rik.3_Silent_p.G70G|KHK_uc002ril.2_5'Flank|KHK_uc002rim.2_5'Flank|KHK_uc002rin.2_5'Flank|KHK_uc002rio.2_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	835	Collagen-like.|Potential.				cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCTGCTGGACCTCCAGGAT	0.647													G	27307347	A	G	27307347	2	3	104	1	0	0	0	0	0	0	0	1	5093	262	10	3		3	EMILIN1	2	27307347	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	31511	27307347	215892026	813	67427											
ABHD1	84696	broad.mit.edu	37	chr2	27346824	27346824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccaacacaagatgctgaGctccttcctgagcccccaga	7	18	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:27346824G>A	uc002rit.2	+	1	168	c.8G>A	c.(7-9)AGC>AAC	p.S3N	ABHD1_uc002riu.2_RNA|ABHD1_uc002riv.2_RNA|ABHD1_uc002riw.2_Missense_Mutation_p.S3N	NM_032604	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain-containing protein 1	3						integral to membrane	carboxylesterase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGATGCTGAGCTCCTTCCTG	0.647													A	27346824	G	A	27346824	3	1	104	1	0	0	0	0	1	0	0	0	73	971	34	2	10	2	ABHD1	2	27346824	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	39477	27346824	215852549	814	67428											
SLC5A6	8884	broad.mit.edu	37	chr2	27429798	27429798	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgcacagttttattgaatcGaagctccaggtactgggtat	10	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:27429798G>A	uc002rjd.2	-	4	797	c.406C>T	c.(406-408)CGA>TGA	p.R136*	SLC5A6_uc010eyv.1_Nonsense_Mutation_p.R136*	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	136					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	TTATTGAATCGAAGCTCCAGG	0.463													A	27429798	G	A	27429798	4	1	104	1	0	0	0	0	0	1	0	0	14669	1066	37	1	1557	1	SLC5A6	2	27429798	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	82974	27429798	215769575	815	67429											
CAD	790	broad.mit.edu	37	chr2	27447234	27447234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagagagcggctgactgagcGcctctgtccccctgggattc	13	13	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:27447234G>A	uc002rji.2	+	9	1292	c.1130G>A	c.(1129-1131)CGC>CAC	p.R377H	CAD_uc010eyw.2_Missense_Mutation_p.R377H	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	377	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTGACTGAGCGCCTCTGTCCC	0.423													A	27447234	G	A	27447234	3	1	104	1	0	0	0	0	1	0	0	0	2565	1087	38	1	1164	1	CAD	2	27447234	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	17436	27447234	215752139	816	67430											
SLC30A3	7781	broad.mit.edu	37	chr2	27480771	27480771	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgctccatactgggacgtAcaacaggttggcacagactg	11	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:27480771A>G	uc002rjk.2	-	4	764	c.578_splice	c.e4+1	p.L193_splice	SLC30A3_uc002rjj.2_5'UTR|SLC30A3_uc010ylh.1_Splice_Site_p.L188_splice	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter),						regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGGGACGTACAACAGGTTG	0.637													G	27480771	A	G	27480771	5	3	104	1	0	0	0	0	0	0	1	0	14556	405	14	3	606	3	SLC30A3	2	27480771	Splice_Site	SNP	A	TCGA-BR-8680-01A-11D-2394-08	33537	27480771	215718602	817	67431											
TRIM54	57159	broad.mit.edu	37	chr2	27528963	27528963	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcaggccaaggagctgAtcaataagtgagtaggcata	13	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:27528963A>G	uc002rjo.2	+	6	859	c.859A>G	c.(859-861)ATC>GTC	p.I287V	TRIM54_uc002rjn.2_Missense_Mutation_p.I329V	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	ring finger protein 30 isoform 2	287	COS.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAGGAGCTGATCAATAAGTG	0.498													G	27528963	A	G	27528963	3	3	104	1	0	0	0	0	1	0	0	0	16525	333	12	3	1011	3	TRIM54	2	27528963	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	48192	27528963	215670410	818	67432											
PPM1G	5496	broad.mit.edu	37	chr2	27604548	27604548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagcacctcctctagttttCgcttgccactctctggctgg	9	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:27604548C>T	uc002rkl.2	-	11	1666	c.1559G>A	c.(1558-1560)CGA>CAA	p.R520Q	ZNF513_uc002rkj.2_5'Flank|ZNF513_uc002rkk.2_5'Flank|PPM1G_uc002rkm.2_Missense_Mutation_p.R301Q	NM_002707	NP_002698	O15355	PPM1G_HUMAN	protein phosphatase 1G	520					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					CTCTAGTTTTCGCTTGCCACT	0.532													T	27604548	C	T	27604548	3	4	104	1	0	0	0	0	1	0	0	0	12340	884	31	1	85	1	PPM1G	2	27604548	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	75585	27604548	215594825	819	67433											
PPM1G	5496	broad.mit.edu	37	chr2	27608664	27608664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcttcatcctcagtgggtCgccctgcaatctgtgccagc	9	15	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:27608664C>T	uc002rkl.2	-	5	466	c.359G>A	c.(358-360)CGA>CAA	p.R120Q	PPM1G_uc002rkm.2_5'UTR	NM_002707	NP_002698	O15355	PPM1G_HUMAN	protein phosphatase 1G	120					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					CTCAGTGGGTCGCCCTGCAAT	0.408													T	27608664	C	T	27608664	3	4	104	1	0	0	0	0	1	0	0	0	12340	884	31	1	1309	1	PPM1G	2	27608664	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4116	27608664	215590709	820	67434											
NRBP1	29959	broad.mit.edu	37	chr2	27662758	27662758	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcccactgcattgtgggAcaccaacgtgagtcgtcttg	13	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:27662758A>G	uc002rko.2	+	12	1861	c.1029A>G	c.(1027-1029)GGA>GGG	p.G343G	NRBP1_uc002rkq.2_Silent_p.G342G|NRBP1_uc002rkp.2_Silent_p.G343G|NRBP1_uc002rkr.2_Silent_p.G134G|KRTCAP3_uc002rks.2_5'Flank|KRTCAP3_uc010ylr.1_5'Flank|KRTCAP3_uc002rkt.2_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein	343					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			ovary(2)|lung(1)	3	Acute lymphoblastic leukemia(172;0.155)					GCATTGTGGGACACCAACGTG	0.522													G	27662758	A	G	27662758	2	3	104	1	0	0	0	0	0	0	0	1	10642	262	10	3		3	NRBP1	2	27662758	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	54094	27662758	215536615	821	67435											
IFT172	26160	broad.mit.edu	37	chr2	27682647	27682647	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtggtccccccatgcctcCtctagtttcaccacctccac	6	19	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:27682647C>A	uc002rku.2	-	24	2622	c.2571G>T	c.(2569-2571)GAG>GAT	p.E857D		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	857	TPR 4.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CCCATGCCTCCTCTAGTTTCA	0.547													A	27682647	C	A	27682647	3	1	104	1	0	0	0	0	1	0	0	0	7557	680	24	5	2778	5	IFT172	2	27682647	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	19889	27682647	215516726	822	67436											
GCKR	2646	broad.mit.edu	37	chr2	27745360	27745360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtccaaggctcgatgcatcGagagcctcctccgagcgatc	11	14	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:27745360G>A	uc002rky.2	+	18	1672	c.1606G>A	c.(1606-1608)GAG>AAG	p.E536K	GCKR_uc010ezd.2_Missense_Mutation_p.E534K|GCKR_uc010ylu.1_Missense_Mutation_p.E346K	NM_001486	NP_001477	Q14397	GCKR_HUMAN	glucokinase regulatory protein	536					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)					TCGATGCATCGAGAGCCTCCT	0.532													A	27745360	G	A	27745360	3	1	104	1	0	0	0	0	1	0	0	0	6294	1059	37	1	1676	1	GCKR	2	27745360	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	62713	27745360	215454013	823	67437											
C2orf16	84226	broad.mit.edu	37	chr2	27802287	27802287	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagaagggtccagttactAtttctcagccttctgtggtc	10	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:27802287A>G	uc002rkz.3	+	1	2899	c.2848A>G	c.(2848-2850)ATT>GTT	p.I950V		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	950										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					TCCAGTTACTATTTCTCAGCC	0.428													G	27802287	A	G	27802287	3	3	104	1	0	0	0	0	1	0	0	0	2157	449	16	3	2850	3	C2orf16	2	27802287	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	56927	27802287	215397086	824	67438											
C2orf16	84226	broad.mit.edu	37	chr2	27803866	27803866	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcagtggggcagcctctgaGaactgttcaaaaggacagta	12	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:27803866G>A	uc002rkz.3	+	1	4478	c.4427G>A	c.(4426-4428)AGA>AAA	p.R1476K	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1476										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					CAGCCTCTGAGAACTGTTCAA	0.473													A	27803866	G	A	27803866	3	1	104	1	0	0	0	0	1	0	0	0	2157	942	33	4	4429	4	C2orf16	2	27803866	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1579	27803866	215395507	825	67439											
GPN1	11321	broad.mit.edu	37	chr2	27873033	27873033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagaattttatgcaagaatCgatggcacaatactggaaga	9	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:27873033C>T	uc010ymc.1	+	14	1154	c.1133C>T	c.(1132-1134)TCG>TTG	p.S378L	GPN1_uc010ezf.2_Missense_Mutation_p.S352L|GPN1_uc010yma.1_Missense_Mutation_p.S285L|GPN1_uc010ymb.1_Missense_Mutation_p.S269L|GPN1_uc010ymd.1_Missense_Mutation_p.S259L|GPN1_uc010yme.1_3'UTR	NM_007266	NP_009197	Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1 isoform a	364						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding				0						ATGCAAGAATCGATGGCACAA	0.388													T	27873033	C	T	27873033	3	4	104	1	0	0	0	0	1	0	0	0	6617	893	31	1	1270	1	GPN1	2	27873033	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	69167	27873033	215326340	826	67440											
PLB1	151056	broad.mit.edu	37	chr2	28843160	28843160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggagctcgaccaaacaactCcagtgacctacccacatctt	7	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:28843160C>T	uc002rmb.1	+	47	3344	c.3344C>T	c.(3343-3345)TCC>TTC	p.S1115F	PLB1_uc010ezj.1_Missense_Mutation_p.S1104F|PLB1_uc002rme.1_Missense_Mutation_p.S80F|PLB1_uc002rmf.1_RNA	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	1115	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|4.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					CCAAACAACTCCAGTGACCTA	0.517													T	28843160	C	T	28843160	3	4	104	1	0	0	0	0	1	0	0	0	12024	855	30	4	3563	4	PLB1	2	28843160	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	970127	28843160	214356213	827	67441											
WDR43	23160	broad.mit.edu	37	chr2	29152516	29152516	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaaaggaagacctccagacGaatagctttccagttcttct	9	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:29152516G>A	uc002rmo.2	+	11	1409	c.1377G>A	c.(1375-1377)ACG>ACA	p.T459T		NM_015131	NP_055946	Q15061	WDR43_HUMAN	WD repeat domain 43	459						nucleolus				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					ACCTCCAGACGAATAGCTTTC	0.353													A	29152516	G	A	29152516	2	1	104	1	0	0	0	0	0	0	0	1	17292	1045	37	1		1	WDR43	2	29152516	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	309356	29152516	214046857	828	67442											
C2orf71	388939	broad.mit.edu	37	chr2	29295831	29295831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgtactggagaggcatgGgctccttgcttcgtcctgtg	14	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:29295831G>A	uc002rmt.1	-	1	1297	c.1297C>T	c.(1297-1299)CCA>TCA	p.P433S		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	433					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						GAGAGGCATGGGCTCCTTGCT	0.562													A	29295831	G	A	29295831	3	1	104	1	0	0	0	0	1	0	0	0	2191	1232	43	4	2577	4	C2orf71	2	29295831	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	143315	29295831	213903542	829	67443											
C2orf71	388939	broad.mit.edu	37	chr2	29296217	29296217	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttattttccaagtgggttGcagtggagtggaggtagctg	16	5	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:29296217G>T	uc002rmt.1	-	1	911	c.911C>A	c.(910-912)GCA>GAA	p.A304E		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	304					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						CAAGTGGGTTGCAGTGGAGTG	0.582													T	29296217	G	T	29296217	3	4	104	1	0	0	0	0	1	0	0	0	2191	1319	46	5	2963	5	C2orf71	2	29296217	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	386	29296217	213903156	830	67444											
CLIP4	79745	broad.mit.edu	37	chr2	29356672	29356672	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagtgattttgaaaacatcGaaaccaaaaggcaagtatta	8	5	0	3	rs150045383		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:29356672G>A	uc002rmv.2	+	5	758	c.519G>A	c.(517-519)TCG>TCA	p.S173S	CLIP4_uc002rmu.2_Silent_p.S173S|CLIP4_uc010ezm.1_Silent_p.S173S|CLIP4_uc002rmw.2_RNA|CLIP4_uc010ymn.1_Silent_p.S155S	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	173	ANK 2.									ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					TGAAAACATCGAAACCAAAAG	0.328													A	29356672	G	A	29356672	2	1	104	1	0	0	0	0	0	0	0	1	3535	1045	37	1		1	CLIP4	2	29356672	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	60455	29356672	213842701	831	67445											
CLIP4	79745	broad.mit.edu	37	chr2	29404458	29404458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgaaagctgctttgcgtcGcagttggagcagcaccccca	11	13	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:29404458G>A	uc002rmv.2	+	16	2056	c.1817G>A	c.(1816-1818)CGC>CAC	p.R606H	CLIP4_uc002rmw.2_RNA	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	606										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					GCTTTGCGTCGCAGTTGGAGC	0.527													A	29404458	G	A	29404458	3	1	104	1	0	0	0	0	1	0	0	0	3535	1087	38	1	1875	1	CLIP4	2	29404458	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	47786	29404458	213794915	832	67446											
CLIP4	79745	broad.mit.edu	37	chr2	29404707	29404707	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtcttagttcgaccgagcaGagtgacctatcggggaatta	12	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:29404707G>T	uc002rmv.2	+	16	2305	c.2066G>T	c.(2065-2067)AGA>ATA	p.R689I	CLIP4_uc002rmw.2_RNA	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	689										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					CGACCGAGCAGAGTGACCTAT	0.408													T	29404707	G	T	29404707	3	4	104	1	0	0	0	0	1	0	0	0	3535	942	33	5	2124	5	CLIP4	2	29404707	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	249	29404707	213794666	833	67447											
ALK	238	broad.mit.edu	37	chr2	29754886	29754886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgcaggtgcctgtgcaccGagacggccagtgtgcagtgc	16	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:29754886G>A	uc002rmy.2	-	4	1956	c.1049C>T	c.(1048-1050)TCG>TTG	p.S350L		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	350	MAM 1.|Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCTGTGCACCGAGACGGCCAG	0.602			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				A	29754886	G	A	29754886	3	1	104	1	0	0	0	0	1	0	0	0	525	1059	37	1	3917	1	ALK	2	29754886	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	350179	29754886	213444487	834	67448											
LBH	81606	broad.mit.edu	37	chr2	30480466	30480466	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gataactgcgaagagacagcGaaagaaaataaagagcagta	11	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:30480466G>A	uc002rne.2	+	3	505	c.297G>A	c.(295-297)GCG>GCA	p.A99A		NM_030915	NP_112177	Q53QV2	LBH_HUMAN	limb bud and heart development homolog	99					multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus					0	Acute lymphoblastic leukemia(172;0.155)					AAGAGACAGCGAAAGAAAATA	0.542													A	30480466	G	A	30480466	2	1	104	1	0	0	0	0	0	0	0	1	8650	1045	37	1		1	LBH	2	30480466	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	725580	30480466	212718907	835	67449											
GALNT14	79623	broad.mit.edu	37	chr2	31168724	31168724	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcgatcacagggcacaccaCccgcgtgtagtcctgtaaga	10	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:31168724C>A	uc002rnr.2	-	7	1286	c.667G>T	c.(667-669)GTG>TTG	p.V223L	GALNT14_uc002rnq.2_Missense_Mutation_p.V203L|GALNT14_uc002rns.2_Missense_Mutation_p.V228L|GALNT14_uc010ymr.1_Missense_Mutation_p.V188L|GALNT14_uc010ezo.1_Missense_Mutation_p.V190L|GALNT14_uc010ezp.1_Intron	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	223	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					GGGCACACCACCCGCGTGTAG	0.398													A	31168724	C	A	31168724	3	1	104	1	0	0	0	0	1	0	0	0	6212	507	18	5	1027	5	GALNT14	2	31168724	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	688258	31168724	212030649	836	67450											
XDH	7498	broad.mit.edu	37	chr2	31590912	31590912	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtccataaaaggagttgttCtttatagcatcctgaggatc	10	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:31590912C>A	uc002rnv.1	-	20	2191	c.2112G>T	c.(2110-2112)AAG>AAT	p.K704N		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	704					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGGAGTTGTTCTTTATAGCAT	0.428													A	31590912	C	A	31590912	3	1	104	1	0	0	0	0	1	0	0	0	17423	912	32	5	1957	5	XDH	2	31590912	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	422188	31590912	211608461	837	67451											
MEMO1	51072	broad.mit.edu	37	chr2	32094943	32094943	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taacaccccaatgggatgtcTtccacatatagtattatggt	7	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:32094943T>G	uc002rnx.2	-	8	1118	c.736A>C	c.(736-738)AGA>CGA	p.R246R	MEMO1_uc010ymu.1_Silent_p.R223R|MEMO1_uc010ezq.2_Silent_p.R246R|MEMO1_uc002rny.2_RNA|MEMO1_uc002rnz.2_RNA	NM_015955	NP_057039	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1 isoform 1	246					regulation of microtubule-based process	cytosol|nucleus				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)					ATGGGATGTCTTCCACATATA	0.284													G	32094943	T	G	32094943	2	3	104	1	0	0	0	0	0	0	0	1	9471	1617	56	5		5	MEMO1	2	32094943	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	504031	32094943	211104430	838	67452											
SPAST	6683	broad.mit.edu	37	chr2	32341202	32341202	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttagtggaacagctgttaAatttgatgatatagctggtc	10	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:32341202A>C	uc002roc.2	+	7	1240	c.1019A>C	c.(1018-1020)AAA>ACA	p.K340T	SPAST_uc002rod.2_Missense_Mutation_p.K308T	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	spastin isoform 1	340	Sufficient for microtubule severing.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACAGCTGTTAAATTTGATGAT	0.373													C	32341202	A	C	32341202	3	2	104	1	0	0	0	0	1	0	0	0	14996	14	1	5	1045	5	SPAST	2	32341202	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	246259	32341202	210858171	839	67453											
SLC30A6	55676	broad.mit.edu	37	chr2	32399179	32399179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaacttgatatgtactggCttcctgcttatgtggtgcag	10	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:32399179C>T	uc002roe.1	+	3	175	c.138C>T	c.(136-138)GGC>GGT	p.G46G	SLC30A6_uc002rof.1_Silent_p.G46G|SLC30A6_uc010ymw.1_Silent_p.G17G|SLC30A6_uc010ezr.1_Silent_p.G46G|SLC30A6_uc002rog.1_5'UTR|SLC30A6_uc010ezs.1_Intron|SLC30A6_uc002roh.1_Intron	NM_017964	NP_060434	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter),	46	Helical; (Potential).					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TATGTACTGGCTTCCTGCTTA	0.328													T	32399179	C	T	32399179	2	4	104	1	0	0	0	0	0	0	0	1	14559	784	28	2		2	SLC30A6	2	32399179	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	57977	32399179	210800194	840	67454											
NLRC4	58484	broad.mit.edu	37	chr2	32475614	32475614	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgacttgtgaaagaatTtatactttggcttgaacctt	9	5	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:32475614T>G	uc002roi.2	-	4	1565	c.1319A>C	c.(1318-1320)AAA>ACA	p.K440T	NLRC4_uc002roj.1_Missense_Mutation_p.K440T|NLRC4_uc010ezt.1_Intron	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	440	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GTGAAAGAATTTATACTTTGG	0.468													G	32475614	T	G	32475614	3	3	104	1	0	0	0	0	1	0	0	0	10469	1841	64	5	1779	5	NLRC4	2	32475614	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	76435	32475614	210723759	841	67455											
NLRC4	58484	broad.mit.edu	37	chr2	32475815	32475815	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttatgtttgtgtttgtttTtctgtatcaacagatcatag	7	5	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:32475815T>G	uc002roi.2	-	4	1364	c.1118A>C	c.(1117-1119)AAA>ACA	p.K373T	NLRC4_uc002roj.1_Missense_Mutation_p.K373T|NLRC4_uc010ezt.1_Intron	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	373	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GTGTTTGTTTTTCTGTATCAA	0.458													G	32475815	T	G	32475815	3	3	104	1	0	0	0	0	1	0	0	0	10469	1841	64	5	1980	5	NLRC4	2	32475815	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	201	32475815	210723558	842	67456											
YIPF4	84272	broad.mit.edu	37	chr2	32515614	32515614	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttggtggagattttatcaaaGaatctacagctactacattt	7	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:32515614G>T	uc002rok.2	+	2	409	c.142G>T	c.(142-144)GAA>TAA	p.E48*		NM_032312	NP_115688	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	48						endoplasmic reticulum|integral to membrane	protein binding				0	Acute lymphoblastic leukemia(172;0.155)					TTTTATCAAAGAATCTACAGC	0.368													T	32515614	G	T	32515614	4	4	104	1	0	0	0	0	0	1	0	0	17477	943	33	5	148	5	YIPF4	2	32515614	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	39799	32515614	210683759	843	67457											
BIRC6	57448	broad.mit.edu	37	chr2	32640623	32640623	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgcggacatgccctgttgAatccttgagtgcaataaatc	9	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:32640623A>C	uc010ezu.2	+	10	2398	c.2264A>C	c.(2263-2265)GAA>GCA	p.E755A		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	755					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TGCCCTGTTGAATCCTTGAGT	0.393													C	32640623	A	C	32640623	3	2	104	1	0	0	0	0	1	0	0	0	1438	246	9	5	2302	5	BIRC6	2	32640623	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	125009	32640623	210558750	844	67458											
BIRC6	57448	broad.mit.edu	37	chr2	32715152	32715152	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttagcttggtatcccaatActttgctccggacatggtgc	10	10	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:32715152A>C	uc010ezu.2	+	43	8274	c.8140A>C	c.(8140-8142)ACT>CCT	p.T2714P		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2714					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					GTATCCCAATACTTTGCTCCG	0.343													C	32715152	A	C	32715152	3	2	104	1	0	0	0	0	1	0	0	0	1438	391	14	5	8310	5	BIRC6	2	32715152	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	74529	32715152	210484221	845	67459											
BIRC6	57448	broad.mit.edu	37	chr2	32750029	32750029	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaaaaaccatgaagagaaaGaaaaagttaaagcggaaaat	9	3	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:32750029G>T	uc010ezu.2	+	58	11832	c.11698G>T	c.(11698-11700)GAA>TAA	p.E3900*		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3900					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TGAAGAGAAAGAAAAAGTTAA	0.294													T	32750029	G	T	32750029	4	4	104	1	0	0	0	0	0	1	0	0	1438	943	33	5	11928	5	BIRC6	2	32750029	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	34877	32750029	210449344	846	67460											
BIRC6	57448	broad.mit.edu	37	chr2	32754810	32754810	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttaccgctcaatagatctgActgttaaattgggatcaaga	9	7	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:32754810A>C	uc010ezu.2	+	60	12147	c.12013A>C	c.(12013-12015)ACT>CCT	p.T4005P	MIR558_hsa-mir-558|MI0003564_5'Flank	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	4005					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					AATAGATCTGACTGTTAAATT	0.398													C	32754810	A	C	32754810	3	2	104	1	0	0	0	0	1	0	0	0	1438	275	10	5	12251	5	BIRC6	2	32754810	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	4781	32754810	210444563	847	67461											
BIRC6	57448	broad.mit.edu	37	chr2	32768549	32768549	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggaagtgctactgaaagagaGaaaacatgcccagtgccttc	11	9	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:32768549G>T	uc010ezu.2	+	62	12667	c.12533G>T	c.(12532-12534)AGA>ATA	p.R4178I		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	4178					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CTGAAAGAGAGAAAACATGCC	0.423													T	32768549	G	T	32768549	3	4	104	1	0	0	0	0	1	0	0	0	1438	942	33	5	12779	5	BIRC6	2	32768549	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13739	32768549	210430824	848	67462											
BIRC6	57448	broad.mit.edu	37	chr2	32820140	32820140	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccaagaaggcggctatgaAacccaaacctttgtcagtat	8	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:32820140A>C	uc010ezu.2	+	68	13675	c.13541A>C	c.(13540-13542)AAA>ACA	p.K4514T		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	4514					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					GCGGCTATGAAACCCAAACCT	0.239													C	32820140	A	C	32820140	3	2	104	1	0	0	0	0	1	0	0	0	1438	14	1	5	13811	5	BIRC6	2	32820140	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	51591	32820140	210379233	849	67463											
TTC27	55622	broad.mit.edu	37	chr2	32983575	32983575	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgaacgctcggttaagattAatcccatgcaggttagacaa	9	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:32983575A>C	uc002rom.2	+	13	1900	c.1669A>C	c.(1669-1671)AAT>CAT	p.N557H	TTC27_uc010ymx.1_Missense_Mutation_p.N507H|TTC27_uc002ron.2_RNA	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	557	TPR 3.|HAT 1.						protein binding			central_nervous_system(1)	1						GGTTAAGATTAATCCCATGCA	0.483													C	32983575	A	C	32983575	3	2	104	1	0	0	0	0	1	0	0	0	16692	362	13	5	1719	5	TTC27	2	32983575	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	163435	32983575	210215798	850	67464											
TTC27	55622	broad.mit.edu	37	chr2	33002962	33002962	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagctcggggtgtggtTttctctcggttgtgcctatt	13	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:33002962T>G	uc002rom.2	+	14	1925	c.1694T>G	c.(1693-1695)TTT>TGT	p.F565C	TTC27_uc010ymx.1_Missense_Mutation_p.F515C|TTC27_uc002ron.2_RNA	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	565	HAT 1.|TPR 4.						protein binding			central_nervous_system(1)	1						GGGGTGTGGTTTTCTCTCGGT	0.398													G	33002962	T	G	33002962	3	3	104	1	0	0	0	0	1	0	0	0	16692	1841	64	5	1748	5	TTC27	2	33002962	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	19387	33002962	210196411	851	67465											
RASGRP3	25780	broad.mit.edu	37	chr2	33745024	33745024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttaactggtttacgtatcGaaatgccactggagaaagct	9	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:33745024G>A	uc002rox.2	+	6	806	c.179G>A	c.(178-180)CGA>CAA	p.R60Q	RASGRP3_uc010ync.1_Missense_Mutation_p.R60Q|RASGRP3_uc002roy.2_Missense_Mutation_p.R60Q	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and	60	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			lung(3)|ovary(1)|pancreas(1)	5	all_hematologic(175;0.115)					TTTACGTATCGAAATGCCACT	0.368													A	33745024	G	A	33745024	3	1	104	1	0	0	0	0	1	0	0	0	13076	1058	37	1	189	1	RASGRP3	2	33745024	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	742062	33745024	209454349	852	67466											
STRN	6801	broad.mit.edu	37	chr2	37152306	37152306	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcacaagatccttcttcaAattttcttggcccttccttt	3	14	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:37152306A>C	uc002rpn.2	-	2	289	c.280T>G	c.(280-282)TTG>GTG	p.L94V	STRN_uc010ezx.2_Missense_Mutation_p.L94V	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	94	Potential.				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TCCTTCTTCAAATTTTCTTGG	0.353													C	37152306	A	C	37152306	3	2	104	1	0	0	0	0	1	0	0	0	15328	11	1	5	2130	5	STRN	2	37152306	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	3407282	37152306	206047067	853	67467											
SULT6B1	391365	broad.mit.edu	37	chr2	37410583	37410583	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcaccttggctttattctcGaagatagacccaggtaattt	7	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:37410583G>A	uc002rpu.2	-	3	294	c.273C>T	c.(271-273)TTC>TTT	p.F91F	SULT6B1_uc010yni.1_RNA	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member	129						cytoplasm	sulfotransferase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(82;0.248)				CTTTATTCTCGAAGATAGACC	0.348													A	37410583	G	A	37410583	2	1	104	1	0	0	0	0	0	0	0	1	15381	1049	37	1		1	SULT6B1	2	37410583	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	258277	37410583	205788790	854	67468											
C2orf56	55471	broad.mit.edu	37	chr2	37459390	37459390	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccgagtacatgaaggaggTgttgactaatccagccaagg	14	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:37459390T>C	uc002rqa.3	+	2	272	c.197T>C	c.(196-198)GTG>GCG	p.V66A	CEBPZ_uc002rpz.2_5'Flank|C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Missense_Mutation_p.V66A|C2orf56_uc010ynk.1_Missense_Mutation_p.V66A|C2orf56_uc010ynl.1_Missense_Mutation_p.V66A	NM_144736	NP_653337	Q7L592	MIDA_HUMAN	hypothetical protein LOC55471 isoform 1	66					mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity			central_nervous_system(1)	1		all_hematologic(82;0.21)				ATGAAGGAGGTGTTGACTAAT	0.547													C	37459390	T	C	37459390	3	2	104	1	0	0	0	0	1	0	0	0	2177	1696	59	3	203	3	C2orf56	2	37459390	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	48807	37459390	205739983	855	67469											
C2orf56	55471	broad.mit.edu	37	chr2	37471104	37471104	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgccaccccagcagaAgccttcatacaagtaagaat	6	14	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:37471104A>C	uc002rqa.3	+	7	855	c.780A>C	c.(778-780)GAA>GAC	p.E260D	C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Missense_Mutation_p.E162D|C2orf56_uc010ynk.1_Missense_Mutation_p.E189D|C2orf56_uc010ynl.1_Missense_Mutation_p.E233D|C2orf56_uc010fah.2_RNA	NM_144736	NP_653337	Q7L592	MIDA_HUMAN	hypothetical protein LOC55471 isoform 1	260					mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity			central_nervous_system(1)	1		all_hematologic(82;0.21)				CCCCAGCAGAAGCCTTCATAC	0.373													C	37471104	A	C	37471104	3	2	104	1	0	0	0	0	1	0	0	0	2177	69	3	5	806	5	C2orf56	2	37471104	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	11714	37471104	205728269	856	67470											
PRKD3	23683	broad.mit.edu	37	chr2	37513463	37513463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttttccatccagattgggCgaccactccaagaaggaatt	8	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:37513463C>T	uc002rqd.2	-	5	1322	c.767G>A	c.(766-768)CGC>CAC	p.R256H	PRKD3_uc002rqf.1_Missense_Mutation_p.R256H	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	256					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				CCAGATTGGGCGACCACTCCA	0.403													T	37513463	C	T	37513463	3	4	104	1	0	0	0	0	1	0	0	0	12520	768	27	1	1961	1	PRKD3	2	37513463	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	42359	37513463	205685910	857	67471											
PRKD3	23683	broad.mit.edu	37	chr2	37543449	37543449	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttcctgggcttcaatggtAacactctcccgtgtgaggcc	11	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:37543449A>C	uc002rqd.2	-	1	774	c.219T>G	c.(217-219)GTT>GTG	p.V73V	PRKD3_uc002rqf.1_Silent_p.V73V	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	73					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				CTTCAATGGTAACACTCTCCC	0.433													C	37543449	A	C	37543449	2	2	104	1	0	0	0	0	0	0	0	1	12520	349	13	5		5	PRKD3	2	37543449	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	29986	37543449	205655924	858	67472											
GALM	130589	broad.mit.edu	37	chr2	38956751	38956751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgagaaagccagtggagCttggaaaacacctgcaggac	12	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:38956751C>T	uc002rqy.2	+	5	940	c.688C>T	c.(688-690)CTT>TTT	p.L230F		NM_138801	NP_620156	Q96C23	GALM_HUMAN	galactose mutarotase	230					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding				0		all_hematologic(82;0.248)				GCCAGTGGAGCTTGGAAAACA	0.453													T	38956751	C	T	38956751	3	4	104	1	0	0	0	0	1	0	0	0	6205	797	28	2	706	2	GALM	2	38956751	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1413302	38956751	204242622	859	67473											
GALM	130589	broad.mit.edu	37	chr2	38959022	38959022	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actccggtttctgcctggagActcagaactggcctgatgca	11	12	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:38959022A>G	uc002rqy.2	+	6	1174	c.922A>G	c.(922-924)ACT>GCT	p.T308A		NM_138801	NP_620156	Q96C23	GALM_HUMAN	galactose mutarotase	308					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding				0		all_hematologic(82;0.248)				CTGCCTGGAGACTCAGAACTG	0.522													G	38959022	A	G	38959022	3	3	104	1	0	0	0	0	1	0	0	0	6205	275	10	3	944	3	GALM	2	38959022	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2271	38959022	204240351	860	67474											
SOS1	6654	broad.mit.edu	37	chr2	39281904	39281904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctgaggtggaaggctcttCgtcagttaaagataatatat	10	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:39281904C>T	uc002rrk.3	-	5	612	c.571G>A	c.(571-573)GAA>AAA	p.E191K	SOS1_uc010ynr.1_RNA|SOS1_uc002rrl.2_5'Flank	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	191					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				GAAGGCTCTTCGTCAGTTAAA	0.279									Noonan_syndrome				T	39281904	C	T	39281904	3	4	104	1	0	0	0	0	1	0	0	0	14936	893	31	1	3506	1	SOS1	2	39281904	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	322882	39281904	203917469	861	67475											
MAP4K3	8491	broad.mit.edu	37	chr2	39492390	39492390	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcaacccattctaatagaAcaatgctagtctgaagtgct	7	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:39492390A>C	uc002rro.2	-	28	2181	c.2090T>G	c.(2089-2091)GTT>GGT	p.V697G	MAP4K3_uc002rrp.2_Missense_Mutation_p.V676G|MAP4K3_uc010yns.1_Missense_Mutation_p.V250G	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase	697	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|stomach(1)|pancreas(1)	8		all_hematologic(82;0.211)				TTCTAATAGAACAATGCTAGT	0.318													C	39492390	A	C	39492390	3	2	104	1	0	0	0	0	1	0	0	0	9261	43	2	5	622	5	MAP4K3	2	39492390	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	210486	39492390	203706983	862	67476											
SLC8A1	6546	broad.mit.edu	37	chr2	40405582	40405582	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccaatctcaaggaagaaggtCttgtttttctcatactcctc	6	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:40405582C>A	uc002rrx.2	-	2	1884	c.1860G>T	c.(1858-1860)AAG>AAT	p.K620N	uc002rrw.2_Intron|SLC8A1_uc002rry.2_Missense_Mutation_p.K620N|SLC8A1_uc002rrz.2_Intron|SLC8A1_uc002rsa.2_Intron|SLC8A1_uc002rsd.3_Intron|SLC8A1_uc002rsb.1_Intron	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	620	Calx-beta 2.|Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGAAGAAGGTCTTGTTTTTCT	0.483													A	40405582	C	A	40405582	3	1	104	1	0	0	0	0	1	0	0	0	14706	912	32	5	1205	5	SLC8A1	2	40405582	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	913192	40405582	202793791	863	67477											
SLC8A1	6546	broad.mit.edu	37	chr2	40655689	40655689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccacctctggcagtcccttCgatggttttatatggaacga	9	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:40655689C>T	uc002rrx.2	-	1	1756	c.1732G>A	c.(1732-1734)GAA>AAA	p.E578K	SLC8A1_uc002rry.2_Missense_Mutation_p.E578K|SLC8A1_uc002rrz.2_Missense_Mutation_p.E578K|SLC8A1_uc002rsa.2_Missense_Mutation_p.E578K|SLC8A1_uc002rsd.3_Missense_Mutation_p.E578K|SLC8A1_uc002rsb.1_Missense_Mutation_p.E578K|SLC8A1_uc010fan.1_Missense_Mutation_p.E578K|SLC8A1_uc002rsc.1_Missense_Mutation_p.E578K	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	578	Calx-beta 2.|Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCAGTCCCTTCGATGGTTTTA	0.418													T	40655689	C	T	40655689	3	4	104	1	0	0	0	0	1	0	0	0	14706	893	31	1	1337	1	SLC8A1	2	40655689	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	250107	40655689	202543684	864	67478											
SLC8A1	6546	broad.mit.edu	37	chr2	40656049	40656049	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacagttccttcagtaaattCataatcagacccagcatttg	5	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:40656049C>T	uc002rrx.2	-	1	1396	c.1372G>A	c.(1372-1374)GAA>AAA	p.E458K	SLC8A1_uc002rry.2_Missense_Mutation_p.E458K|SLC8A1_uc002rrz.2_Missense_Mutation_p.E458K|SLC8A1_uc002rsa.2_Missense_Mutation_p.E458K|SLC8A1_uc002rsd.3_Missense_Mutation_p.E458K|SLC8A1_uc002rsb.1_Missense_Mutation_p.E458K|SLC8A1_uc010fan.1_Missense_Mutation_p.E458K|SLC8A1_uc002rsc.1_Missense_Mutation_p.E458K	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	458	Calx-beta 1.|Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCAGTAAATTCATAATCAGAC	0.423													T	40656049	C	T	40656049	3	4	104	1	0	0	0	0	1	0	0	0	14706	835	29	4	1697	4	SLC8A1	2	40656049	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	360	40656049	202543324	865	67479											
KCNG3	170850	broad.mit.edu	37	chr2	42720290	42720290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaggtgtcggacatgcggtCgtcgaggcggcgctggcagc	19	10	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:42720290C>T	uc002rsn.2	-	1	948	c.352G>A	c.(352-354)GAC>AAC	p.D118N	MTA3_uc002rso.1_5'Flank|KCNG3_uc002rsm.2_Missense_Mutation_p.D118N	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G,	118	Cytoplasmic (Potential).					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)	1						GACATGCGGTCGTCGAGGCGG	0.711													T	42720290	C	T	42720290	3	4	104	1	0	0	0	0	1	0	0	0	8029	884	31	1	966	1	KCNG3	2	42720290	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2064241	42720290	200479083	866	67480											
THADA	63892	broad.mit.edu	37	chr2	43779352	43779352	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaatccttactttagagatAacttctgcaaagctcctgtt	6	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:43779352A>C	uc002rsw.3	-	18	3153	c.2801T>G	c.(2800-2802)TTA>TGA	p.L934*	THADA_uc010far.2_Nonsense_Mutation_p.L203*|THADA_uc002rsx.3_Nonsense_Mutation_p.L934*|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Nonsense_Mutation_p.L644*|THADA_uc010fat.1_Nonsense_Mutation_p.L82*|THADA_uc002rta.2_Nonsense_Mutation_p.L644*|THADA_uc002rtb.1_Nonsense_Mutation_p.L934*	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	934							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTTTAGAGATAACTTCTGCAA	0.453													C	43779352	A	C	43779352	4	2	104	1	0	0	0	0	0	1	0	0	15837	372	13	5	3144	5	THADA	2	43779352	Nonsense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1059062	43779352	199420021	867	67481											
LOC728819	728819	broad.mit.edu	37	chr2	43903013	43903013	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaaaggtactttaaatttTcaatgacagcaaacgtagtg	7	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:43903013T>G	uc010fav.1	-	1	449	c.449A>C	c.(448-450)GAA>GCA	p.E150A	PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.1_Intron	NM_001101330	NP_001094800			C1GALT1-specific chaperone 1-like												0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTTAAATTTTCAATGACAGC	0.433													G	43903013	T	G	43903013	3	3	104	1	0	0	0	0	1	0	0	0	8887	1783	62	5	502	5	LOC728819	2	43903013	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	123661	43903013	199296360	868	67482											
LRPPRC	10128	broad.mit.edu	37	chr2	44153069	44153069	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atctgtcacaaaaccactgaAgccttgcagatcgagctcta	7	12	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:44153069A>C	uc002rtr.2	-	26	2826	c.2768T>G	c.(2767-2769)CTT>CGT	p.L923R	LRPPRC_uc010yob.1_Missense_Mutation_p.L823R	NM_133259	NP_573566	P42704	LPPRC_HUMAN	leucine-rich PPR motif-containing protein	923					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			ovary(2)|skin(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAACCACTGAAGCCTTGCAGA	0.398													C	44153069	A	C	44153069	3	2	104	1	0	0	0	0	1	0	0	0	8965	72	3	5	1468	5	LRPPRC	2	44153069	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	250056	44153069	199046304	869	67483											
SLC3A1	6519	broad.mit.edu	37	chr2	44539839	44539839	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctataacttactatggagaaGaaattggaatgggaaatatt	9	3	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:44539839G>T	uc002ruc.3	+	8	1525	c.1447G>T	c.(1447-1449)GAA>TAA	p.E483*	SLC3A1_uc002rtz.2_Nonsense_Mutation_p.E483*|SLC3A1_uc002rua.2_Nonsense_Mutation_p.E483*|SLC3A1_uc002rub.2_Nonsense_Mutation_p.E483*|SLC3A1_uc002rud.3_Nonsense_Mutation_p.E205*|SLC3A1_uc002rue.3_Nonsense_Mutation_p.E103*	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	483	Extracellular (Potential).				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CTATGGAGAAGAAATTGGAAT	0.388													T	44539839	G	T	44539839	4	4	104	1	0	0	0	0	0	1	0	0	14626	943	33	5	1477	5	SLC3A1	2	44539839	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	386770	44539839	198659534	870	67484											
C2orf34	79823	broad.mit.edu	37	chr2	44999207	44999207	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacccggacatatatgaagaAaaccttcattacccgcttct	5	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:44999207A>C	uc002rum.2	+	11	1031	c.927A>C	c.(925-927)GAA>GAC	p.E309D		NM_024766	NP_079042	Q7Z624	CMKMT_HUMAN	hypothetical protein LOC79823	309						cytoplasm	calmodulin-lysine N-methyltransferase activity				0		all_hematologic(82;0.0892)|Acute lymphoblastic leukemia(82;0.17)				TATATGAAGAAAACCTTCATT	0.343													C	44999207	A	C	44999207	3	2	104	1	0	0	0	0	1	0	0	0	2163	11	1	5	969	5	C2orf34	2	44999207	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	459368	44999207	198200166	871	67485											
SIX2	10736	broad.mit.edu	37	chr2	45235953	45235953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggcgcccaggggtcggccGcgcagcttctccgcctcgat	14	17	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:45235953G>A	uc002ruo.2	-	1	590	c.297C>T	c.(295-297)CGC>CGT	p.R99R	SIX2_uc002rup.2_Silent_p.R99R	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	99						nucleus	sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGGGTCGGCCGCGCAGCTTCT	0.647													A	45235953	G	A	45235953	2	1	104	1	0	0	0	0	0	0	0	1	14347	1074	38	1		1	SIX2	2	45235953	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	236746	45235953	197963420	872	67486											
SRBD1	55133	broad.mit.edu	37	chr2	45645648	45645648	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccattcaataatatttTtggccctgttggcattgagt	8	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:45645648T>G	uc002rus.2	-	18	2265	c.2189A>C	c.(2188-2190)AAA>ACA	p.K730T	SRBD1_uc010yoc.1_Missense_Mutation_p.K249T	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	730					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AATAATATTTTTGGCCCTGTT	0.378													G	45645648	T	G	45645648	3	3	104	1	0	0	0	0	1	0	0	0	15132	1841	64	5	814	5	SRBD1	2	45645648	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	409695	45645648	197553725	873	67487											
SRBD1	55133	broad.mit.edu	37	chr2	45812864	45812864	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcatcattaaagagacgaAtgatgttggcacaaacccaa	7	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:45812864A>G	uc002rus.2	-	5	774	c.698T>C	c.(697-699)ATT>ACT	p.I233T		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	233					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AAAGAGACGAATGATGTTGGC	0.318													G	45812864	A	G	45812864	3	3	104	1	0	0	0	0	1	0	0	0	15132	101	4	3	2357	3	SRBD1	2	45812864	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	167216	45812864	197386509	874	67488											
MSH2	4436	broad.mit.edu	37	chr2	47710069	47710069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtaaatgaaatcatttcacGaataaaagttactacgtgaa	6	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:47710069G>A	uc002rvy.1	+	16	2854	c.2786G>A	c.(2785-2787)CGA>CAA	p.R929Q	MSH2_uc010yoh.1_Missense_Mutation_p.R863Q|MSH2_uc002rvz.2_Intron|MSH2_uc010fbg.2_Missense_Mutation_p.R739Q	NM_000251	NP_000242	P43246	MSH2_HUMAN	mutS homolog 2	929					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.?(2)		large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATCATTTCACGAATAAAAGTT	0.264			D|Mis|N|F|S		colorectal|endometrial|ovarian	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				A	47710069	G	A	47710069	3	1	104	1	0	0	0	0	1	0	0	0	9870	1058	37	1	2848	1	MSH2	2	47710069	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1897205	47710069	195489304	875	67489											
MSH6	2956	broad.mit.edu	37	chr2	48026079	48026079	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagctctaggaaggaaacGccctcagccaccaaacaagc	8	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:48026079G>A	uc002rwd.3	+	4	1109	c.957G>A	c.(955-957)ACG>ACA	p.T319T	MSH6_uc002rwc.2_Silent_p.T319T|MSH6_uc010fbj.2_Silent_p.T17T|MSH6_uc010yoi.1_Silent_p.T189T|MSH6_uc010yoj.1_Silent_p.T17T	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	319					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGAAGGAAACGCCCTCAGCCA	0.463			Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				A	48026079	G	A	48026079	2	1	104	1	0	0	0	0	0	0	0	1	9874	1074	38	1		1	MSH6	2	48026079	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	316010	48026079	195173294	876	67490											
FOXN2	3344	broad.mit.edu	37	chr2	48573716	48573716	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tactcctttagtcttctcatTtatatggccattgagcactc	5	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:48573716T>G	uc002rwh.1	+	3	678	c.363T>G	c.(361-363)ATT>ATG	p.I121M		NM_002158	NP_002149	P32314	FOXN2_HUMAN	T-cell leukemia virus enhancer factor	121	Fork-head.				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			GTCTTCTCATTTATATGGCCA	0.418													G	48573716	T	G	48573716	3	3	104	1	0	0	0	0	1	0	0	0	6020	1829	64	5	365	5	FOXN2	2	48573716	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	547637	48573716	194625657	877	67491											
KLRAQ1	129285	broad.mit.edu	37	chr2	48734422	48734422	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttaggttccagatgtggaAtctcgtgaagacttaattaa	9	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:48734422A>C	uc002rwm.2	+	19	2168	c.1983A>C	c.(1981-1983)GAA>GAC	p.E661D	KLRAQ1_uc002rwl.2_Missense_Mutation_p.E615D|KLRAQ1_uc002rwk.2_Missense_Mutation_p.E650D|KLRAQ1_uc010yok.1_Missense_Mutation_p.E619D	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	661										ovary(1)	1						CAGATGTGGAATCTCGTGAAG	0.348													C	48734422	A	C	48734422	3	2	104	1	0	0	0	0	1	0	0	0	8413	98	4	5	2057	5	KLRAQ1	2	48734422	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	160706	48734422	194464951	878	67492											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48809412	48809412	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggaacttcaggcttttgTcaacatggcctcattggcgc	11	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:48809412T>C	uc010yol.1	+	1	1687	c.1640T>C	c.(1639-1641)GTC>GCC	p.V547A	STON1_uc002rwo.3_Missense_Mutation_p.V547A|STON1_uc010fbm.2_Missense_Mutation_p.V547A|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.V547A|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.V547A	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	547					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAGGCTTTTGTCAACATGGCC	0.463													C	48809412	T	C	48809412	3	2	104	1	0	0	0	0	1	0	0	0	15316	1667	58	3	1642	3	STON1-GTF2A1L	2	48809412	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	74990	48809412	194389961	879	67493											
LHCGR	3973	broad.mit.edu	37	chr2	48915276	48915276	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccattaattctgggtttcGaactgcaaaataaattttaa	6	6	1	0	rs121912524		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:48915276G>A	uc002rwu.3	-	11	1730	c.1660C>T	c.(1660-1662)CGA>TGA	p.R554*	GTF2A1L_uc002rwt.2_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	554	Cytoplasmic (Potential).				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.R554*(1)		ovary(3)|lung(2)|breast(2)|skin(1)	8		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TCTGGGTTTCGAACTGCAAAA	0.368									Familial_Male-Limited_Precocious_Puberty				A	48915276	G	A	48915276	4	1	104	1	0	0	0	0	0	1	0	0	8762	1066	37	1	443	1	LHCGR	2	48915276	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	105864	48915276	194284097	880	67494											
FSHR	2492	broad.mit.edu	37	chr2	49216184	49216184	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggatgtttatgttatcTtgaatgtcactagaagaaag	11	3	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:49216184T>G	uc002rww.2	-	6	530	c.456A>C	c.(454-456)CAA>CAC	p.Q152H	FSHR_uc002rwx.2_Missense_Mutation_p.Q152H|FSHR_uc010fbn.2_Intron|FSHR_uc010fbo.1_RNA	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	152	LRR 5.|Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TTATGTTATCTTGAATGTCAC	0.363									Gonadal_Dysgenesis_46_XX				G	49216184	T	G	49216184	3	3	104	1	0	0	0	0	1	0	0	0	6073	1606	56	5	1651	5	FSHR	2	49216184	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	300908	49216184	193983189	881	67495											
NRXN1	9378	broad.mit.edu	37	chr2	50464092	50464092	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtccaccacctttgctaaaGatatatgtcgtcccagctgg	8	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:50464092G>T	uc010fbp.2	-	2	1083	c.276C>A	c.(274-276)ATC>ATA	p.I92I	NRXN1_uc002rxb.3_Silent_p.I799I|NRXN1_uc010fbq.2_Silent_p.I1167I|NRXN1_uc002rxe.3_Silent_p.I1127I|NRXN1_uc002rxc.1_RNA	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	92	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTTTGCTAAAGATATATGTCG	0.413													T	50464092	G	T	50464092	2	4	104	1	0	0	0	0	0	0	0	1	10665	932	33	5		5	NRXN1	2	50464092	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1247908	50464092	192735281	882	67496											
NRXN1	9378	broad.mit.edu	37	chr2	50779867	50779867	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcatctcaatagcaaagaaGtccacctttatcatctgtgg	7	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:50779867G>T	uc010fbq.2	-	9	3214	c.1737C>A	c.(1735-1737)GAC>GAA	p.D579E	NRXN1_uc002rxb.3_Missense_Mutation_p.D211E|NRXN1_uc002rxe.3_Missense_Mutation_p.D539E|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	141	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TAGCAAAGAAGTCCACCTTTA	0.443													T	50779867	G	T	50779867	3	4	104	1	0	0	0	0	1	0	0	0	10665	1020	36	5	3229	5	NRXN1	2	50779867	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	315775	50779867	192419506	883	67497											
NRXN1	9378	broad.mit.edu	37	chr2	50850557	50850557	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcccctgatcccaaattaatGaccagagagacagctccatt	7	13	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:50850557G>T	uc010fbq.2	-	6	2605	c.1128C>A	c.(1126-1128)GTC>GTA	p.V376V	NRXN1_uc002rxb.3_Silent_p.V23V|NRXN1_uc002rxe.3_Silent_p.V343V|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCAAATTAATGACCAGAGAGA	0.443													T	50850557	G	T	50850557	2	4	104	1	0	0	0	0	0	0	0	1	10665	1277	45	5		5	NRXN1	2	50850557	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	70690	50850557	192348816	884	67498											
ERLEC1	27248	broad.mit.edu	37	chr2	54028678	54028678	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgaatctaagcatgaaattCtttcagtagctgaagttaca	7	7	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:54028678C>A	uc002rxl.2	+	7	950	c.670C>A	c.(670-672)CTT>ATT	p.L224I	ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Missense_Mutation_p.L224I|ERLEC1_uc002rxn.2_Missense_Mutation_p.L224I	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	erlectin isoform 1	224					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			ovary(2)	2						GCATGAAATTCTTTCAGTAGC	0.378													A	54028678	C	A	54028678	3	1	104	1	0	0	0	0	1	0	0	0	5231	913	32	5	696	5	ERLEC1	2	54028678	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3178121	54028678	189170695	885	67499											
PSME4	23198	broad.mit.edu	37	chr2	54114544	54114544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaactcagggacatgaggCgatatggttggtgtggtatt	15	4	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:54114544C>T	uc002rxp.2	-	40	4637	c.4581G>A	c.(4579-4581)TCG>TCA	p.S1527S	PSME4_uc010yop.1_Silent_p.S1413S|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.S902S|PSME4_uc010fbv.1_Silent_p.S671S|PSME4_uc010fbt.1_Silent_p.S14S	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1527					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGACATGAGGCGATATGGTTG	0.383													T	54114544	C	T	54114544	2	4	104	1	0	0	0	0	0	0	0	1	12709	755	27	1		1	PSME4	2	54114544	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	85866	54114544	189084829	886	67500											
PSME4	23198	broad.mit.edu	37	chr2	54117282	54117282	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccccagtcattataagtttCtacggtaatattggacagtg	8	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:54117282C>T	uc002rxp.2	-	37	4311	c.4255G>A	c.(4255-4257)GAA>AAA	p.E1419K	PSME4_uc010yop.1_Missense_Mutation_p.E1305K|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.E794K|PSME4_uc010fbv.1_Missense_Mutation_p.E563K|PSME4_uc010fbt.1_5'Flank	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1419					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTATAAGTTTCTACGGTAATA	0.393													T	54117282	C	T	54117282	3	4	104	1	0	0	0	0	1	0	0	0	12709	922	32	4	1316	4	PSME4	2	54117282	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2738	54117282	189082091	887	67501											
PSME4	23198	broad.mit.edu	37	chr2	54154547	54154547	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttacttctgtgaggtcatttCtttcttgtagtacagatgaa	8	6	4	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:54154547C>A	uc002rxp.2	-	12	1633	c.1577G>T	c.(1576-1578)AGA>ATA	p.R526I	PSME4_uc010yop.1_Missense_Mutation_p.R412I|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	526					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GAGGTCATTTCTTTCTTGTAG	0.333													A	54154547	C	A	54154547	3	1	104	1	0	0	0	0	1	0	0	0	12709	913	32	5	4094	5	PSME4	2	54154547	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	37265	54154547	189044826	888	67502											
PSME4	23198	broad.mit.edu	37	chr2	54159188	54159188	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtatctttcacgatgcaatCttctaacaacactgtttggc	6	10	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:54159188C>A	uc002rxp.2	-	10	1156	c.1100G>T	c.(1099-1101)AGA>ATA	p.R367I	PSME4_uc010yop.1_Missense_Mutation_p.R253I|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	367					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACGATGCAATCTTCTAACAAC	0.413													A	54159188	C	A	54159188	3	1	104	1	0	0	0	0	1	0	0	0	12709	913	32	5	4579	5	PSME4	2	54159188	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4641	54159188	189040185	889	67503											
ACYP2	98	broad.mit.edu	37	chr2	54365782	54365782	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttttcctgaaacagtatacaGaagatgaagctaggaaaata	8	5	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:54365782G>T	uc002rxq.3	+	3	508	c.82G>T	c.(82-84)GAA>TAA	p.E28*		NM_138448	NP_612457	P14621	ACYP2_HUMAN	acylphosphatase 2	28	Acylphosphatase-like.				phosphate metabolic process		acylphosphatase activity				0						ACAGTATACAGAAGATGAAGC	0.403													T	54365782	G	T	54365782	4	4	104	1	0	0	0	0	0	1	0	0	229	943	33	5	92	5	ACYP2	2	54365782	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	206594	54365782	188833591	890	67504											
SPTBN1	6711	broad.mit.edu	37	chr2	54839399	54839399	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccatcttgagaacatgggGtcccatgacatcgtggatgg	13	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:54839399G>A	uc002rxu.2	+	4	651	c.402G>A	c.(400-402)GGG>GGA	p.G134G	SPTBN1_uc002rxv.1_Silent_p.G134G|SPTBN1_uc002rxx.2_Silent_p.G121G	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	134	CH 1.|Actin-binding.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			AGAACATGGGGTCCCATGACA	0.557													A	54839399	G	A	54839399	2	1	104	1	0	0	0	0	0	0	0	1	15118	1248	44	4		4	SPTBN1	2	54839399	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	473617	54839399	188359974	891	67505											
SPTBN1	6711	broad.mit.edu	37	chr2	54858050	54858050	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgccctcctgtctgccctgAgcatccagaactaccacctc	6	18	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:54858050A>G	uc002rxu.2	+	16	3115	c.2866A>G	c.(2866-2868)AGC>GGC	p.S956G	SPTBN1_uc002rxx.2_Missense_Mutation_p.S943G	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	956	Spectrin 7.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			GTCTGCCCTGAGCATCCAGAA	0.547													G	54858050	A	G	54858050	3	3	104	1	0	0	0	0	1	0	0	0	15118	304	11	3	3037	3	SPTBN1	2	54858050	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	18651	54858050	188341323	892	67506											
SPTBN1	6711	broad.mit.edu	37	chr2	54885016	54885016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatcagttctcaagagacGccagtgtggccgaggcctgg	13	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:54885016G>A	uc002rxu.2	+	30	6325	c.6076G>A	c.(6076-6078)GCC>ACC	p.A2026T	SPTBN1_uc002rxx.2_Missense_Mutation_p.A2013T|SPTBN1_uc002rxy.2_Missense_Mutation_p.A171T|SPTBN1_uc010you.1_Missense_Mutation_p.A16T	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	2026	Spectrin 17.|Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			CTCAAGAGACGCCAGTGTGGC	0.582											OREG0014619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	54885016	G	A	54885016	3	1	104	1	0	0	0	0	1	0	0	0	15118	1087	38	1	6303	1	SPTBN1	2	54885016	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	26966	54885016	188314357	893	67507											
CCDC88A	55704	broad.mit.edu	37	chr2	55546112	55546112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcagttgagttttcaacGcttgcttctctgcttgcagt	9	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:55546112G>A	uc002ryv.2	-	19	4030	c.3188C>T	c.(3187-3189)GCG>GTG	p.A1063V	CCDC88A_uc010yoz.1_Missense_Mutation_p.A1064V|CCDC88A_uc010ypa.1_Missense_Mutation_p.A1063V|CCDC88A_uc002ryu.2_Missense_Mutation_p.A346V|CCDC88A_uc002rys.2_Missense_Mutation_p.A49V|CCDC88A_uc002ryw.2_Missense_Mutation_p.A347V|CCDC88A_uc010fby.1_5'UTR	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	1064	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						AGTTTTCAACGCTTGCTTCTC	0.358													A	55546112	G	A	55546112	3	1	104	1	0	0	0	0	1	0	0	0	2863	1087	38	1	2480	1	CCDC88A	2	55546112	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	661096	55546112	187653261	894	67508											
CCDC88A	55704	broad.mit.edu	37	chr2	55561360	55561360	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctttggatagggttttgTtttctttttccaaatttcca	6	6	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:55561360T>C	uc002ryv.2	-	15	3439	c.2597A>G	c.(2596-2598)AAC>AGC	p.N866S	CCDC88A_uc010yoz.1_Missense_Mutation_p.N866S|CCDC88A_uc010ypa.1_Missense_Mutation_p.N866S|CCDC88A_uc010ypb.1_Missense_Mutation_p.N768S|CCDC88A_uc002ryu.2_Missense_Mutation_p.N149S|CCDC88A_uc002ryw.2_Missense_Mutation_p.N149S	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	866	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.N866K(1)		ovary(2)|skin(2)	4						TAGGGTTTTGTTTTCTTTTTC	0.313													C	55561360	T	C	55561360	3	2	104	1	0	0	0	0	1	0	0	0	2863	1725	60	3	3090	3	CCDC88A	2	55561360	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	15248	55561360	187638013	895	67509											
CCDC88A	55704	broad.mit.edu	37	chr2	55561901	55561901	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagggattctaactgaaaggTcagatttttaaagctatcca	8	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:55561901T>C	uc002ryv.2	-	15	2898	c.2056A>G	c.(2056-2058)ACC>GCC	p.T686A	CCDC88A_uc010yoz.1_Missense_Mutation_p.T686A|CCDC88A_uc010ypa.1_Missense_Mutation_p.T686A|CCDC88A_uc010ypb.1_Missense_Mutation_p.T588A|CCDC88A_uc002ryu.2_5'UTR|CCDC88A_uc002ryw.2_5'UTR	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	686	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						AACTGAAAGGTCAGATTTTTA	0.318													C	55561901	T	C	55561901	3	2	104	1	0	0	0	0	1	0	0	0	2863	1667	58	3	3631	3	CCDC88A	2	55561901	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	541	55561901	187637472	896	67510											
CCDC104	112942	broad.mit.edu	37	chr2	55772048	55772048	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttctttttttttcaggaaatGacagagaaaccagaaatgac	7	6	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:55772048G>T	uc002ryy.2	+	10	1131	c.933G>T	c.(931-933)ATG>ATT	p.M311I	CCDC104_uc002ryx.2_Missense_Mutation_p.M336I	NM_080667	NP_542398	Q96G28	CC104_HUMAN	coiled-coil domain containing 104	311										ovary(1)	1			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTCAGGAAATGACAGAGAAAC	0.338													T	55772048	G	T	55772048	3	4	104	1	0	0	0	0	1	0	0	0	2739	1290	45	5	971	5	CCDC104	2	55772048	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	210147	55772048	187427325	897	67511											
SMEK2	57223	broad.mit.edu	37	chr2	55825627	55825627	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaaaattctcttcaaaAacagatggtgtgggcaaaat	9	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:55825627A>C	uc002rzc.2	-	4	1221	c.846T>G	c.(844-846)GTT>GTG	p.V282V	SMEK2_uc002rzb.2_Silent_p.V282V|SMEK2_uc002rzd.2_Silent_p.V282V|SMEK2_uc002rza.2_Silent_p.V158V	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 isoform 1	282						microtubule organizing center|nucleus	protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCTCTTCAAAAACAGATGGTG	0.353													C	55825627	A	C	55825627	2	2	104	1	0	0	0	0	0	0	0	1	14794	1	1	5		5	SMEK2	2	55825627	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	53579	55825627	187373746	898	67512											
EFEMP1	2202	broad.mit.edu	37	chr2	56149545	56149545	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacttgaccagcgccagagTcagcatagttaggaaaaggg	13	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:56149545T>C	uc002rzh.2	-	2	361	c.31A>G	c.(31-33)ACT>GCT	p.T11A	EFEMP1_uc002rzi.2_Missense_Mutation_p.T11A|EFEMP1_uc002rzj.2_Missense_Mutation_p.T11A|EFEMP1_uc010ypc.1_5'UTR	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	11					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGCGCCAGAGTCAGCATAGTT	0.428													C	56149545	T	C	56149545	3	2	104	1	0	0	0	0	1	0	0	0	4941	1667	58	3	1490	3	EFEMP1	2	56149545	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	323918	56149545	187049828	899	67513											
VRK2	7444	broad.mit.edu	37	chr2	58386762	58386762	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagagacaaacgcagatgtTtattattatcgcatcatcat	7	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:58386762T>G	uc002rzo.2	+	16	2206	c.1461T>G	c.(1459-1461)GTT>GTG	p.V487V	VRK2_uc010fcb.2_3'UTR|VRK2_uc002rzs.2_3'UTR|VRK2_uc002rzr.2_3'UTR|VRK2_uc010fcc.2_Silent_p.V369V|VRK2_uc002rzv.2_Silent_p.V487V|VRK2_uc010fcd.2_Silent_p.V464V|VRK2_uc002rzp.2_Silent_p.V487V|VRK2_uc010ypg.1_Silent_p.V487V|VRK2_uc002rzq.2_3'UTR|VRK2_uc002rzu.2_3'UTR|VRK2_uc002rzt.2_Silent_p.V369V|FANCL_uc002rzw.3_3'UTR|FANCL_uc002rzx.3_3'UTR|FANCL_uc010fce.2_3'UTR	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	vaccinia related kinase 2 isoform 2	487	Helical; Anchor for type IV membrane protein; (Potential).					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1						ACGCAGATGTTTATTATTATC	0.353													G	58386762	T	G	58386762	2	3	104	1	0	0	0	0	0	0	0	1	17217	1828	64	5		5	VRK2	2	58386762	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2237217	58386762	184812611	900	67514											
KIAA1841	84542	broad.mit.edu	37	chr2	61343163	61343163	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacaaccaaaaaagcaggtAtcttcaccctgtgcccagag	8	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:61343163A>G	uc002saw.3	+	17	2097	c.1794A>G	c.(1792-1794)GTA>GTG	p.V598V	KIAA1841_uc002sax.3_Silent_p.V452V|KIAA1841_uc002say.2_Silent_p.V598V	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	KIAA1841 protein isoform a	598											0			Epithelial(17;0.193)			AAAAGCAGGTATCTTCACCCT	0.378													G	61343163	A	G	61343163	2	3	104	1	0	0	0	0	0	0	0	1	8261	436	16	3		3	KIAA1841	2	61343163	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2956401	61343163	181856210	901	67515											
AHSA2	130872	broad.mit.edu	37	chr2	61411875	61411875	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgggaatgattttaccaacGaaagctatggcaacccagga	10	9	0	1	rs116428488	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:61411875G>A	uc002sbc.1	+	3	1601	c.15G>A	c.(13-15)ACG>ACA	p.T5T	AHSA2_uc002sbb.1_RNA	NM_152392	NP_689605	Q719I0	AHSA2_HUMAN	AHA1, activator of heat shock 90kDa protein	167					response to stress	cytoplasm	ATPase activator activity|chaperone binding			breast(1)	1			Epithelial(17;0.0994)			TTTTACCAACGAAAGCTATGG	0.403													A	61411875	G	A	61411875	2	1	104	1	0	0	0	0	0	0	0	1	419	1045	37	1		1	AHSA2	2	61411875	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	68712	61411875	181787498	902	67516											
USP34	9736	broad.mit.edu	37	chr2	61439030	61439030	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatctggcctctgagctataAacagctgcatcaggttaaac	8	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:61439030A>C	uc002sbe.2	-	69	8739	c.8717T>G	c.(8716-8718)TTT>TGT	p.F2906C		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2906					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			CTGAGCTATAAACAGCTGCAT	0.363													C	61439030	A	C	61439030	3	2	104	1	0	0	0	0	1	0	0	0	17062	14	1	5	1971	5	USP34	2	61439030	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	27155	61439030	181760343	903	67517											
XPO1	7514	broad.mit.edu	37	chr2	61710173	61710173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttgataaaaactctgagCtgcagcttcttcttgtgcaa	8	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:61710173C>T	uc002sbj.2	-	22	3459	c.2731G>A	c.(2731-2733)GCT>ACT	p.A911T	XPO1_uc010fcl.2_Missense_Mutation_p.A907T|XPO1_uc010ypn.1_Missense_Mutation_p.A907T|XPO1_uc002sbk.2_Missense_Mutation_p.A472T|XPO1_uc002sbg.2_Missense_Mutation_p.A108T|XPO1_uc002sbh.2_Missense_Mutation_p.A558T	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	911	HEAT 8.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AAACTCTGAGCTGCAGCTTCT	0.343													T	61710173	C	T	61710173	3	4	104	1	0	0	0	0	1	0	0	0	17442	797	28	2	500	2	XPO1	2	61710173	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	271143	61710173	181489200	904	67518											
XPO1	7514	broad.mit.edu	37	chr2	61722723	61722723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccatttgagtacgcaagtCgaatattggtatttaaagga	9	5	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:61722723C>T	uc002sbj.2	-	11	1642	c.914G>A	c.(913-915)CGA>CAA	p.R305Q	XPO1_uc010fcl.2_Missense_Mutation_p.R301Q|XPO1_uc010ypn.1_Missense_Mutation_p.R301Q|XPO1_uc002sbk.2_5'UTR|XPO1_uc002sbh.2_5'Flank	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	305	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			GTACGCAAGTCGAATATTGGT	0.299													T	61722723	C	T	61722723	3	4	104	1	0	0	0	0	1	0	0	0	17442	884	31	1	2361	1	XPO1	2	61722723	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	12550	61722723	181476650	905	67519											
FAM161A	84140	broad.mit.edu	37	chr2	62067568	62067568	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccttagcataggtcatcaTtctgtttttcctaggatact	6	10	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:62067568T>G	uc010ypo.1	-	3	673	c.571A>C	c.(571-573)ATG>CTG	p.M191L	FAM161A_uc002sbm.3_Missense_Mutation_p.M191L|FAM161A_uc002sbn.3_Missense_Mutation_p.M1L|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Missense_Mutation_p.M82L	NM_032180	NP_115556	Q3B820	F161A_HUMAN	hypothetical protein LOC84140	191					response to stimulus|visual perception	centrosome				large_intestine(2)|ovary(1)	3						TAGGTCATCATTCTGTTTTTC	0.413													G	62067568	T	G	62067568	3	3	104	1	0	0	0	0	1	0	0	0	5472	1493	52	5	1427	5	FAM161A	2	62067568	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	344845	62067568	181131805	906	67520											
AFTPH	54812	broad.mit.edu	37	chr2	64778749	64778749	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgtagggtttgttgatttCgatacaccagattatactcg	11	6	0	2	rs113401509	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:64778749C>T	uc002sdc.2	+	1	173	c.141C>T	c.(139-141)TTC>TTT	p.F47F	AFTPH_uc002scz.2_Silent_p.F47F|AFTPH_uc002sda.2_Silent_p.F47F|AFTPH_uc002sdb.2_Silent_p.F47F	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	47					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						TTGTTGATTTCGATACACCAG	0.398													T	64778749	C	T	64778749	2	4	104	1	0	0	0	0	0	0	0	1	364	883	31	1		1	AFTPH	2	64778749	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2711181	64778749	178420624	907	67521											
AFTPH	54812	broad.mit.edu	37	chr2	64778760	64778760	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgatttcgatacaccagAttatactcgtcccaaggaag	8	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:64778760A>G	uc002sdc.2	+	1	184	c.152A>G	c.(151-153)GAT>GGT	p.D51G	AFTPH_uc002scz.2_Missense_Mutation_p.D51G|AFTPH_uc002sda.2_Missense_Mutation_p.D51G|AFTPH_uc002sdb.2_Missense_Mutation_p.D51G	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	51					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						GATACACCAGATTATACTCGT	0.388													G	64778760	A	G	64778760	3	3	104	1	0	0	0	0	1	0	0	0	364	333	12	3	154	3	AFTPH	2	64778760	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	11	64778760	178420613	908	67522											
AFTPH	54812	broad.mit.edu	37	chr2	64778948	64778948	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tactttctaccaccagcaaaGaaataatttcatctgaaatg	4	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:64778948G>T	uc002sdc.2	+	1	372	c.340G>T	c.(340-342)GAA>TAA	p.E114*	AFTPH_uc002scz.2_Nonsense_Mutation_p.E114*|AFTPH_uc002sda.2_Nonsense_Mutation_p.E114*|AFTPH_uc002sdb.2_Nonsense_Mutation_p.E114*	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	114					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						CACCAGCAAAGAAATAATTTC	0.368													T	64778948	G	T	64778948	4	4	104	1	0	0	0	0	0	1	0	0	364	943	33	5	342	5	AFTPH	2	64778948	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	188	64778948	178420425	909	67523											
AFTPH	54812	broad.mit.edu	37	chr2	64779504	64779504	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagaggatcaggtttgtgTttcagaaataagcatagtga	13	3	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:64779504T>C	uc002sdc.2	+	1	928	c.896T>C	c.(895-897)GTT>GCT	p.V299A	AFTPH_uc002scz.2_Missense_Mutation_p.V299A|AFTPH_uc002sda.2_Missense_Mutation_p.V299A|AFTPH_uc002sdb.2_Missense_Mutation_p.V299A	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	299					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						CAGGTTTGTGTTTCAGAAATA	0.383													C	64779504	T	C	64779504	3	2	104	1	0	0	0	0	1	0	0	0	364	1725	60	3	898	3	AFTPH	2	64779504	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	556	64779504	178419869	910	67524											
AFTPH	54812	broad.mit.edu	37	chr2	64794728	64794728	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaccgcctggagcgaattttCgaagcatgttttccttccat	8	11	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:64794728C>T	uc002sdc.2	+	2	2000	c.1968C>T	c.(1966-1968)TTC>TTT	p.F656F	AFTPH_uc002scz.2_Silent_p.F656F|AFTPH_uc002sda.2_Silent_p.F656F|AFTPH_uc002sdb.2_Silent_p.F656F	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	656					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						AGCGAATTTTCGAAGCATGTT	0.378													T	64794728	C	T	64794728	2	4	104	1	0	0	0	0	0	0	0	1	364	883	31	1		1	AFTPH	2	64794728	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	15224	64794728	178404645	911	67525											
ACTR2	10097	broad.mit.edu	37	chr2	65473846	65473846	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagaacctcctatgaacccAaccaaaaacagagagaagat	6	11	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:65473846A>C	uc002sdq.2	+	3	563	c.348A>C	c.(346-348)CCA>CCC	p.P116P	ACTR2_uc010yqf.1_Silent_p.P61P|ACTR2_uc002sdp.2_Silent_p.P121P|ACTR2_uc010yqg.1_Silent_p.P64P	NM_005722	NP_005713	P61160	ARP2_HUMAN	actin-related protein 2 isoform b	116					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding				0						CTATGAACCCAACCAAAAACA	0.333													C	65473846	A	C	65473846	2	2	104	1	0	0	0	0	0	0	0	1	211	117	5	5		5	ACTR2	2	65473846	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	679118	65473846	177725527	912	67526											
MEIS1	4211	broad.mit.edu	37	chr2	66667099	66667099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcattcaatgaagatataGccgtgttcgccaaacaggtc	9	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:66667099G>A	uc002sdu.2	+	3	821	c.364G>A	c.(364-366)GCC>ACC	p.A122T	MEIS1_uc002sdt.2_Missense_Mutation_p.A122T|MEIS1_uc002sdv.2_Missense_Mutation_p.A120T|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_Missense_Mutation_p.A57T|MEIS1_uc002sdw.1_5'Flank	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Meis homeobox 1	122							sequence-specific DNA binding transcription factor activity				0						TGAAGATATAGCCGTGTTCGC	0.428													A	66667099	G	A	66667099	3	1	104	1	0	0	0	0	1	0	0	0	9467	971	34	2	374	2	MEIS1	2	66667099	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1193253	66667099	176532274	913	67527											
APLF	200558	broad.mit.edu	37	chr2	68765080	68765080	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taagactaatgcacagagaaAcaaacttccaatagaggaac	7	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:68765080A>G	uc002sep.2	+	7	1054	c.881A>G	c.(880-882)AAC>AGC	p.N294S	APLF_uc002seq.1_RNA|APLF_uc010fdf.2_Missense_Mutation_p.N270S|APLF_uc002ser.1_Missense_Mutation_p.N25S	NM_173545	NP_775816	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	294					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			ovary(2)	2						GCACAGAGAAACAAACTTCCA	0.313													G	68765080	A	G	68765080	3	3	104	1	0	0	0	0	1	0	0	0	776	43	2	3	907	3	APLF	2	68765080	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2097981	68765080	174434293	914	67528											
BMP10	27302	broad.mit.edu	37	chr2	69092776	69092776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcttctatctacagccaCattcggagacggccatgcct	7	14	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:69092776C>T	uc002sez.1	-	2	1421	c.1262G>A	c.(1261-1263)TGT>TAT	p.C421Y		NM_014482	NP_055297	O95393	BMP10_HUMAN	bone morphogenetic protein 10 preproprotein	421					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			ovary(2)	2						TCTACAGCCACATTCGGAGAC	0.403													T	69092776	C	T	69092776	3	4	104	1	0	0	0	0	1	0	0	0	1457	478	17	4	16	4	BMP10	2	69092776	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	327696	69092776	174106597	915	67529											
BMP10	27302	broad.mit.edu	37	chr2	69093327	69093327	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtatctatttctagccgTccactgctggcatcctcagc	8	14	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:69093327T>C	uc002sez.1	-	2	870	c.711A>G	c.(709-711)GGA>GGG	p.G237G		NM_014482	NP_055297	O95393	BMP10_HUMAN	bone morphogenetic protein 10 preproprotein	237					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			ovary(2)	2						TTTCTAGCCGTCCACTGCTGG	0.502													C	69093327	T	C	69093327	2	2	104	1	0	0	0	0	0	0	0	1	1457	1654	58	3		3	BMP10	2	69093327	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	551	69093327	174106046	916	67530											
ANTXR1	84168	broad.mit.edu	37	chr2	69409700	69409700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatgcaagagtcaagatgCcggagcaggaatatgaattc	12	6	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:69409700C>T	uc002sfg.2	+	16	1617	c.1261C>T	c.(1261-1263)CCG>TCG	p.P421S		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	421	Cytoplasmic (Potential).				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4						AGTCAAGATGCCGGAGCAGGA	0.458									Familial_Infantile_Hemangioma				T	69409700	C	T	69409700	3	4	104	1	0	0	0	0	1	0	0	0	711	739	26	2	1400	2	ANTXR1	2	69409700	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	316373	69409700	173789673	917	67531											
GFPT1	2673	broad.mit.edu	37	chr2	69586407	69586407	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttacttaccaaaaacTttttcaagtctttgtagttg	4	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:69586407T>G	uc002sfh.2	-	5	580	c.401A>C	c.(400-402)AAG>ACG	p.K134T	GFPT1_uc002sfi.1_5'UTR	NM_002056	NP_002047	Q06210	GFPT1_HUMAN	glucosamine-fructose-6-phosphate	134	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			skin(1)	1						TACCAAAAACTTTTTCAAGTC	0.363													G	69586407	T	G	69586407	3	3	104	1	0	0	0	0	1	0	0	0	6345	1609	56	5	1704	5	GFPT1	2	69586407	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	176707	69586407	173612966	918	67532											
AAK1	22848	broad.mit.edu	37	chr2	69741737	69741737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgatgcagggctgtggCcagctgttgctgttgctgtt	15	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:69741737C>T	uc002sfp.2	-	13	2147	c.1642G>A	c.(1642-1644)GCC>ACC	p.A548T	AAK1_uc010fdk.2_Missense_Mutation_p.A548T|AAK1_uc010yqm.1_Missense_Mutation_p.A548T	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	548	Gln-rich.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0						AGGGCTGTGGCCAgctgttgc	0.368													T	69741737	C	T	69741737	3	4	104	1	0	0	0	0	1	0	0	0	16	739	26	2	1283	2	AAK1	2	69741737	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	155330	69741737	173457636	919	67533											
GMCL1	64395	broad.mit.edu	37	chr2	70096947	70096947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgcaatacactgaatcagCcatgtagcggatctgtcagt	9	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:70096947C>T	uc002sfu.2	+	12	1522	c.1315C>T	c.(1315-1317)CCA>TCA	p.P439S		NM_178439	NP_848526	Q96IK5	GMCL1_HUMAN	germ cell-less	439					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				ovary(3)	3						ACTGAATCAGCCATGTAGCGG	0.443													T	70096947	C	T	70096947	3	4	104	1	0	0	0	0	1	0	0	0	6485	739	26	2	1361	2	GMCL1	2	70096947	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	355210	70096947	173102426	920	67534											
MXD1	4084	broad.mit.edu	37	chr2	70162562	70162562	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcaagtcgacacactacgTtgagtttattaacaaaagcc	6	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:70162562T>C	uc002sfy.2	+	4	543	c.283T>C	c.(283-285)TTG>CTG	p.L95L	MXD1_uc010yqp.1_Silent_p.L95L|MXD1_uc010yqq.1_Silent_p.L32L|MXD1_uc010yqr.1_RNA|MXD1_uc010yqs.1_Silent_p.L85L	NM_002357	NP_002348	Q05195	MAD1_HUMAN	MAX dimerization protein 1	95	Helix-loop-helix motif.				cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						ACACACTACGTTGAGTTTATT	0.438													C	70162562	T	C	70162562	2	2	104	1	0	0	0	0	0	0	0	1	9999	1722	60	3		3	MXD1	2	70162562	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	65615	70162562	173036811	921	67535											
TIA1	7072	broad.mit.edu	37	chr2	70441551	70441551	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaaccattaggcatatActggccaatttgttgtgcat	8	9	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:70441551A>G	uc002sgj.3	-	12	1181	c.964T>C	c.(964-966)TAT>CAT	p.Y322H	TIA1_uc002sgk.3_Missense_Mutation_p.Y311H|TIA1_uc002sgl.3_RNA	NM_022173	NP_071505	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding	322					apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding				0						TTAGGCATATACTGGCCAATT	0.393													G	70441551	A	G	70441551	3	3	104	1	0	0	0	0	1	0	0	0	15884	391	14	3	204	3	TIA1	2	70441551	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	278989	70441551	172757822	922	67536											
TIA1	7072	broad.mit.edu	37	chr2	70454891	70454891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttccaaatggtgcaaaaGcagcttttatatcttcagtt	6	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:70454891G>A	uc002sgj.3	-	6	591	c.374C>T	c.(373-375)GCT>GTT	p.A125V	TIA1_uc002sgk.3_Missense_Mutation_p.A114V|TIA1_uc002sgl.3_RNA|TIA1_uc002sgm.3_Missense_Mutation_p.A125V	NM_022173	NP_071505	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding	125	RRM 2.				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding				0						TGGTGCAAAAGCAGCTTTTAT	0.308													A	70454891	G	A	70454891	3	1	104	1	0	0	0	0	1	0	0	0	15884	971	34	2	818	2	TIA1	2	70454891	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13340	70454891	172744482	923	67537											
PCYOX1	51449	broad.mit.edu	37	chr2	70503962	70503962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtggccactccgttgaatcGaaaaatgtcgaatattactt	9	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:70503962G>A	uc002sgn.3	+	6	1022	c.956G>A	c.(955-957)CGA>CAA	p.R319Q	PCYOX1_uc010fdo.2_Missense_Mutation_p.R242Q|PCYOX1_uc010yqu.1_Missense_Mutation_p.R301Q	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1 precursor	319					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			central_nervous_system(1)	1						CCGTTGAATCGAAAAATGTCG	0.378													A	70503962	G	A	70503962	3	1	104	1	0	0	0	0	1	0	0	0	11608	1058	37	1	978	1	PCYOX1	2	70503962	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	49071	70503962	172695411	924	67538											
ATP6V1B1	525	broad.mit.edu	37	chr2	71163176	71163176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acacatgcaggcggtcacccGaaactacatcacccaccccc	6	19	2	0	rs143516810		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:71163176G>A	uc002shj.2	+	1	179	c.92G>A	c.(91-93)CGA>CAA	p.R31Q	ATP6V1B1_uc002shi.1_Missense_Mutation_p.R31Q|ATP6V1B1_uc010fdv.2_Missense_Mutation_p.R31Q|ATP6V1B1_uc010fdw.2_RNA	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	31					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1						GCGGTCACCCGAAACTACATC	0.667													A	71163176	G	A	71163176	3	1	104	1	0	0	0	0	1	0	0	0	1178	1058	37	1	94	1	ATP6V1B1	2	71163176	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	659214	71163176	172036197	925	67539											
MPHOSPH10	10199	broad.mit.edu	37	chr2	71360659	71360659	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgatttttttgaagatattGattctgatgaagatgaaggg	11	1	1	8			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:71360659G>T	uc002sht.1	+	2	1073	c.721G>T	c.(721-723)GAT>TAT	p.D241Y	MPHOSPH10_uc010feb.1_Missense_Mutation_p.D241Y	NM_005791	NP_005782	O00566	MPP10_HUMAN	M-phase phosphoprotein 10	241					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			skin(2)|ovary(1)	3						TGAAGATATTGATTCTGATGA	0.348													T	71360659	G	T	71360659	3	4	104	1	0	0	0	0	1	0	0	0	9725	1290	45	5	727	5	MPHOSPH10	2	71360659	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	197483	71360659	171838714	926	67540											
ZNF638	27332	broad.mit.edu	37	chr2	71653942	71653942	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actttttacattagatgaatTaattgaccaagatgattgca	6	5	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:71653942T>G	uc002shx.2	+	24	5262	c.4943T>G	c.(4942-4944)TTA>TGA	p.L1648*	ZNF638_uc002shy.2_Nonsense_Mutation_p.L1648*|ZNF638_uc002shz.2_Nonsense_Mutation_p.L1648*|ZNF638_uc002sia.2_Nonsense_Mutation_p.L1648*|ZNF638_uc002sib.1_3'UTR|ZNF638_uc010fed.2_Intron|ZNF638_uc002sic.2_Nonsense_Mutation_p.L745*|ZNF638_uc002sid.2_Nonsense_Mutation_p.L17*	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	1648					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						TTAGATGAATTAATTGACCAA	0.358													G	71653942	T	G	71653942	4	3	104	1	0	0	0	0	0	1	0	0	18052	1764	61	5	5033	5	ZNF638	2	71653942	Nonsense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	293283	71653942	171545431	927	67541											
DYSF	8291	broad.mit.edu	37	chr2	71766360	71766360	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaatctctgcccctggaggaGaaatagaaggtatgttccct	10	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:71766360G>T	uc002sie.2	+	16	1847	c.1471G>T	c.(1471-1473)GAA>TAA	p.E491*	DYSF_uc010feg.2_Nonsense_Mutation_p.E522*|DYSF_uc010feh.2_Nonsense_Mutation_p.E491*|DYSF_uc002sig.3_Nonsense_Mutation_p.E491*|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Nonsense_Mutation_p.E491*|DYSF_uc010fef.2_Nonsense_Mutation_p.E522*|DYSF_uc010fei.2_Nonsense_Mutation_p.E522*|DYSF_uc010fek.2_Nonsense_Mutation_p.E523*|DYSF_uc010fej.2_Nonsense_Mutation_p.E492*|DYSF_uc010fel.2_Nonsense_Mutation_p.E492*|DYSF_uc010feo.2_Nonsense_Mutation_p.E523*|DYSF_uc010fem.2_Nonsense_Mutation_p.E492*|DYSF_uc010fen.2_Nonsense_Mutation_p.E523*|DYSF_uc002sif.2_Nonsense_Mutation_p.E492*	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	491	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CCCTGGAGGAGAAATAGAAGG	0.537													T	71766360	G	T	71766360	4	4	104	1	0	0	0	0	0	1	0	0	4859	943	33	5	1725	5	DYSF	2	71766360	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	112418	71766360	171433013	928	67542											
DYSF	8291	broad.mit.edu	37	chr2	71797810	71797810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagatgtactacacacaccGacggcggcgctgggtgcgcc	14	13	0	1	rs150877497		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:71797810G>A	uc002sie.2	+	29	3489	c.3113G>A	c.(3112-3114)CGA>CAA	p.R1038Q	DYSF_uc010feg.2_Missense_Mutation_p.R1069Q|DYSF_uc010feh.2_Missense_Mutation_p.R1024Q|DYSF_uc002sig.3_Missense_Mutation_p.R1024Q|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R1038Q|DYSF_uc010fef.2_Missense_Mutation_p.R1055Q|DYSF_uc010fei.2_Missense_Mutation_p.R1055Q|DYSF_uc010fek.2_Missense_Mutation_p.R1056Q|DYSF_uc010fej.2_Missense_Mutation_p.R1025Q|DYSF_uc010fel.2_Missense_Mutation_p.R1025Q|DYSF_uc010feo.2_Missense_Mutation_p.R1070Q|DYSF_uc010fem.2_Missense_Mutation_p.R1039Q|DYSF_uc010fen.2_Missense_Mutation_p.R1056Q|DYSF_uc002sif.2_Missense_Mutation_p.R1039Q	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1038	Cytoplasmic (Potential).|Arg-rich.		R -> Q (in LGMD2B; uncertain pathogenicity).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						TACACACACCGACGGCGGCGC	0.642													A	71797810	G	A	71797810	3	1	104	1	0	0	0	0	1	0	0	0	4859	1058	37	1	3419	1	DYSF	2	71797810	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	31450	71797810	171401563	929	67543											
CYP26B1	56603	broad.mit.edu	37	chr2	72359686	72359686	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacgtctttgaacacgggCgctgtgtcatgggtgtcccg	13	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:72359686C>T	uc002sih.1	-	6	1209	c.1209G>A	c.(1207-1209)GCG>GCA	p.A403A	CYP26B1_uc010yra.1_Silent_p.A386A|CYP26B1_uc010yrb.1_Silent_p.A328A	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily b,	403					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			skin(2)	2						TGAACACGGGCGCTGTGTCAT	0.612													T	72359686	C	T	72359686	2	4	104	1	0	0	0	0	0	0	0	1	4156	755	27	1		1	CYP26B1	2	72359686	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	561876	72359686	170839687	930	67544											
EXOC6B	23233	broad.mit.edu	37	chr2	72742235	72742235	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctctgttttcggtagtaattCtcaaatgtttcccgggcacc	8	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:72742235C>T	uc010fep.2	-	9	1074	c.936G>A	c.(934-936)GAG>GAA	p.E312E	EXOC6B_uc002sij.2_Silent_p.E312E	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	SEC15-like 2	312					protein transport|vesicle docking involved in exocytosis	exocyst				central_nervous_system(2)	2						GGTAGTAATTCTCAAATGTTT	0.393													T	72742235	C	T	72742235	2	4	104	1	0	0	0	0	0	0	0	1	5309	912	32	4		4	EXOC6B	2	72742235	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	382549	72742235	170457138	931	67545											
SMYD5	10322	broad.mit.edu	37	chr2	73449025	73449025	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagccaatgaagaggaggaAattgtccataaacttctggg	11	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:73449025A>C	uc002siw.2	+	6	638	c.609A>C	c.(607-609)GAA>GAC	p.E203D	SMYD5_uc010yre.1_Missense_Mutation_p.E87D|SMYD5_uc002six.1_5'Flank	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	203	Poly-Glu.						metal ion binding				0						AAGAGGAGGAAATTGTCCATA	0.458													C	73449025	A	C	73449025	3	2	104	1	0	0	0	0	1	0	0	0	14825	11	1	5	631	5	SMYD5	2	73449025	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	706790	73449025	169750348	932	67546											
CCT7	10574	broad.mit.edu	37	chr2	73477500	73477500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctccgtggcggcgccgaGcagtttatggaggagacaga	15	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:73477500G>A	uc002siz.2	+	10	1239	c.1137G>A	c.(1135-1137)GAG>GAA	p.E379E	CCT7_uc002sja.2_Silent_p.E175E|CCT7_uc010yrf.1_Silent_p.E335E|CCT7_uc010feu.2_Silent_p.E337E|CCT7_uc010yrg.1_Silent_p.E279E|CCT7_uc010yrh.1_Silent_p.E251E|CCT7_uc010yri.1_Silent_p.E292E	NM_006429	NP_006420	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 isoform a	379					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding				0						GCGGCGCCGAGCAGTTTATGG	0.527													A	73477500	G	A	73477500	2	1	104	1	0	0	0	0	0	0	0	1	2959	962	34	2		2	CCT7	2	73477500	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	28475	73477500	169721873	933	67547											
ALMS1	7840	broad.mit.edu	37	chr2	73635812	73635812	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggcaatagtagaacacaAatttctgatactaatgtggt	8	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:73635812A>C	uc002sje.1	+	3	501	c.390A>C	c.(388-390)CAA>CAC	p.Q130H	ALMS1_uc002sjf.1_Intron	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	129					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						GTAGAACACAAATTTCTGATA	0.373													C	73635812	A	C	73635812	3	2	104	1	0	0	0	0	1	0	0	0	535	11	1	5	393	5	ALMS1	2	73635812	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	158312	73635812	169563561	934	67548											
ALMS1	7840	broad.mit.edu	37	chr2	73675812	73675812	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctactccccactcacatagaGagaagcctggtattttttac	6	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:73675812G>A	uc002sje.1	+	10	2272	c.2161G>A	c.(2161-2163)GAG>AAG	p.E721K	ALMS1_uc002sjf.1_Missense_Mutation_p.E677K|ALMS1_uc002sjg.2_Missense_Mutation_p.E107K|ALMS1_uc002sjh.1_Missense_Mutation_p.E107K	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	719	4.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						CTCACATAGAGAGAAGCCTGG	0.473													A	73675812	G	A	73675812	3	1	104	1	0	0	0	0	1	0	0	0	535	943	33	4	2185	4	ALMS1	2	73675812	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	40000	73675812	169523561	935	67549											
ALMS1	7840	broad.mit.edu	37	chr2	73679414	73679414	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgaagaagctttaaatgtTtttgttgttcctggacaagg	10	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:73679414T>G	uc002sje.1	+	10	5874	c.5763T>G	c.(5761-5763)GTT>GTG	p.V1921V	ALMS1_uc002sjf.1_Silent_p.V1877V|ALMS1_uc002sjg.2_Silent_p.V1307V|ALMS1_uc002sjh.1_Silent_p.V1307V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1919	34 X 47 AA approximate tandem repeat.|30.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						CTTTAAATGTTTTTGTTGTTC	0.418													G	73679414	T	G	73679414	2	3	104	1	0	0	0	0	0	0	0	1	535	1828	64	5		5	ALMS1	2	73679414	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	3602	73679414	169519959	936	67550											
ALMS1	7840	broad.mit.edu	37	chr2	73680757	73680757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctacaggaagcagagaGcaaagtcagtatggcattag	11	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:73680757G>A	uc002sje.1	+	10	7217	c.7106G>A	c.(7105-7107)AGC>AAC	p.S2369N	ALMS1_uc002sjf.1_Missense_Mutation_p.S2325N|ALMS1_uc002sjg.2_Missense_Mutation_p.S1755N|ALMS1_uc002sjh.1_Missense_Mutation_p.S1755N	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2367					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						GAAGCAGAGAGCAAAGTCAGT	0.418													A	73680757	G	A	73680757	3	1	104	1	0	0	0	0	1	0	0	0	535	971	34	2	7130	2	ALMS1	2	73680757	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1343	73680757	169518616	937	67551											
ALMS1	7840	broad.mit.edu	37	chr2	73717091	73717091	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaaaatcagcaaaggtcttCgaatgccattcgatgaaaag	8	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:73717091C>T	uc002sje.1	+	12	8119	c.8008C>T	c.(8008-8010)CGA>TGA	p.R2670*	ALMS1_uc002sjf.1_Nonsense_Mutation_p.R2626*|ALMS1_uc002sjg.2_Nonsense_Mutation_p.R2056*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.R2056*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2668					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						CAAAGGTCTTCGAATGCCATT	0.378													T	73717091	C	T	73717091	4	4	104	1	0	0	0	0	0	1	0	0	535	876	31	1	8040	1	ALMS1	2	73717091	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	36334	73717091	169482282	938	67552											
ALMS1	7840	broad.mit.edu	37	chr2	73777441	73777441	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccagctcaggtgctaggcAcaagagatgatgacctctca	10	12	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:73777441A>C	uc002sje.1	+	15	10069	c.9958A>C	c.(9958-9960)ACA>CCA	p.T3320P	ALMS1_uc002sjf.1_Missense_Mutation_p.T3276P|ALMS1_uc002sjg.2_Missense_Mutation_p.T2706P|ALMS1_uc002sjh.1_Missense_Mutation_p.T2706P|ALMS1_uc010fev.1_Intron	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3318					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						GGTGCTAGGCACAAGAGATGA	0.438													C	73777441	A	C	73777441	3	2	104	1	0	0	0	0	1	0	0	0	535	159	6	5	10002	5	ALMS1	2	73777441	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	60350	73777441	169421932	939	67553											
ALMS1	7840	broad.mit.edu	37	chr2	73826650	73826650	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaagggcatacaagcaggTaattacttgaatctaaactt	7	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:73826650T>G	uc002sje.1	+	19	11782	c.11671_splice	c.e19+2	p.G3891_splice	ALMS1_uc002sjf.1_Splice_Site_p.G3847_splice|ALMS1_uc002sjh.1_Splice_Site_p.G3277_splice	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1						G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						TACAAGCAGGTAATTACTTGA	0.229													G	73826650	T	G	73826650	5	3	104	1	0	0	0	0	0	0	1	0	535	1652	57	5	11733	5	ALMS1	2	73826650	Splice_Site	SNP	T	TCGA-BR-8680-01A-11D-2394-08	49209	73826650	169372723	940	67554											
NAT8	9027	broad.mit.edu	37	chr2	73868397	73868397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcagagctcctaccatgCccaccaccttctcttcagac	6	18	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:73868397C>T	uc002sji.1	-	2	526	c.359G>A	c.(358-360)GGC>GAC	p.G120D		NM_003960	NP_003951	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8	120	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			ovary(1)	1						TCCTACCATGCCCACCACCTT	0.532													T	73868397	C	T	73868397	3	4	104	1	0	0	0	0	1	0	0	0	10179	739	26	2	328	2	NAT8	2	73868397	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	41747	73868397	169330976	941	67555											
NAT8	9027	broad.mit.edu	37	chr2	73868654	73868654	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggcagcttcagcaattgCcggaaggtggctggggcatg	17	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:73868654C>T	uc002sji.1	-	2	269	c.102G>A	c.(100-102)CGG>CGA	p.R34R		NM_003960	NP_003951	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8	34					gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			ovary(1)	1						TCAGCAATTGCCGGAAGGTGG	0.617													T	73868654	C	T	73868654	2	4	104	1	0	0	0	0	0	0	0	1	10179	726	26	2		2	NAT8	2	73868654	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	257	73868654	169330719	942	67556											
C2orf78	388960	broad.mit.edu	37	chr2	74043935	74043935	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatggaggaaacccactgTtcctgagccagtaatgtcaa	9	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:74043935T>C	uc002sjr.1	+	3	2706	c.2585T>C	c.(2584-2586)GTT>GCT	p.V862A		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	862										ovary(2)	2						AAACCCACTGTTCCTGAGCCA	0.527													C	74043935	T	C	74043935	3	2	104	1	0	0	0	0	1	0	0	0	2195	1725	60	3	2595	3	C2orf78	2	74043935	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	175281	74043935	169155438	943	67557											
DCTN1	1639	broad.mit.edu	37	chr2	74594897	74594897	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgatccttgtgcagcagttCaatgaggaaatccaaggagc	11	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:74594897C>A	uc002skx.2	-	18	2421	c.2110G>T	c.(2110-2112)GAA>TAA	p.E704*	DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Nonsense_Mutation_p.E570*|DCTN1_uc002sku.2_Nonsense_Mutation_p.E570*|DCTN1_uc002skw.1_Nonsense_Mutation_p.E680*|DCTN1_uc010ffd.2_Nonsense_Mutation_p.E684*|DCTN1_uc002sky.2_Nonsense_Mutation_p.E667*	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	704					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						TGCAGCAGTTCAATGAGGAAA	0.522													A	74594897	C	A	74594897	4	1	104	1	0	0	0	0	0	1	0	0	4306	835	29	5	1786	5	DCTN1	2	74594897	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	550962	74594897	168604476	944	67558											
DQX1	165545	broad.mit.edu	37	chr2	74746199	74746199	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctcagaaacaatggaaagGcagttgtctttggatatggt	11	5	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:74746199G>T	uc010yrw.1	-	11	2130	c.1965C>A	c.(1963-1965)TGC>TGA	p.C655*	DQX1_uc002smc.2_Nonsense_Mutation_p.C216*	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	655						nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						CAATGGAAAGGCAGTTGTCTT	0.527													T	74746199	G	T	74746199	4	4	104	1	0	0	0	0	0	1	0	0	4751	1195	42	5	196	5	DQX1	2	74746199	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	151302	74746199	168453174	945	67559											
AUP1	550	broad.mit.edu	37	chr2	74754076	74754076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaccccctcaccttcttgcGtattcatatagtgcttgctt	5	13	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:74754076G>A	uc010yrx.1	-	10	1485	c.1359C>T	c.(1357-1359)TAC>TAT	p.Y453Y	DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_Silent_p.Y129Y|AUP1_uc002smf.2_Silent_p.Y396Y|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Silent_p.Y305Y|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank			Q9Y679	AUP1_HUMAN	SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA;	462	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding				0						ACCTTCTTGCGTATTCATATA	0.517													A	74754076	G	A	74754076	2	1	104	1	0	0	0	0	0	0	0	1	1220	1140	40	1		1	AUP1	2	74754076	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	7877	74754076	168445297	946	67560											
SEMA4F	10505	broad.mit.edu	37	chr2	74901669	74901669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcagagatggacgacGtttttgaaagctgacctgct	11	10	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:74901669G>A	uc002sna.1	+	8	978	c.867G>A	c.(865-867)ACG>ACA	p.T289T	SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc010ffq.1_Silent_p.T256T|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Silent_p.T134T	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	289	Sema.|Extracellular (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4						GATGGACGACGTTTTTGAAAG	0.592													A	74901669	G	A	74901669	2	1	104	1	0	0	0	0	0	0	0	1	14035	1132	40	1		1	SEMA4F	2	74901669	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	147593	74901669	168297704	947	67561											
HK2	3099	broad.mit.edu	37	chr2	75113653	75113653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctacatggaggagatgcGcaacgtggaactggtggaag	16	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:75113653G>A	uc002snd.2	+	15	3998	c.2072G>A	c.(2071-2073)CGC>CAC	p.R691H		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	691	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2						GAGGAGATGCGCAACGTGGAA	0.582													A	75113653	G	A	75113653	3	1	104	1	0	0	0	0	1	0	0	0	7191	1087	38	1	2130	1	HK2	2	75113653	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	211984	75113653	168085720	948	67562											
C2orf3	6936	broad.mit.edu	37	chr2	75897301	75897301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacatctggcccaggtgtgGcattgagaagtgctataata	11	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:75897301G>A	uc002sno.2	-	15	2196	c.2066C>T	c.(2065-2067)GCC>GTC	p.A689V	MRPL19_uc002snm.1_Intron|C2orf3_uc010ffs.2_Missense_Mutation_p.A251V|C2orf3_uc002snn.2_Missense_Mutation_p.A520V|C2orf3_uc010fft.2_Missense_Mutation_p.A364V	NM_003203	NP_003194	P16383	GCF_HUMAN	hypothetical protein LOC6936	689					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						CCCAGGTGTGGCATTGAGAAG	0.368													A	75897301	G	A	75897301	3	1	104	1	0	0	0	0	1	0	0	0	2162	1203	42	2	291	2	C2orf3	2	75897301	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	783648	75897301	167302072	949	67563											
C2orf3	6936	broad.mit.edu	37	chr2	75921549	75921549	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgagtttcctgtagtaatgTtaatctaaataaataaaata	6	3	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:75921549T>C	uc002sno.2	-	6	968	c.838A>G	c.(838-840)ACA>GCA	p.T280A	C2orf3_uc010ffs.2_5'UTR|C2orf3_uc002snn.2_Missense_Mutation_p.T111A|C2orf3_uc010fft.2_5'UTR	NM_003203	NP_003194	P16383	GCF_HUMAN	hypothetical protein LOC6936	280	Potential.				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						TGTAGTAATGTTAATCtaaat	0.313													C	75921549	T	C	75921549	3	2	104	1	0	0	0	0	1	0	0	0	2162	1725	60	3	1555	3	C2orf3	2	75921549	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	24248	75921549	167277824	950	67564											
SUCLG1	8802	broad.mit.edu	37	chr2	84676772	84676772	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaaatctagatatacataCctgtttgccagtgaaaccct	5	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:84676772C>T	uc002son.2	-	2	394	c.201_splice	c.e2+1	p.Q67_splice	SUCLG1_uc010ysk.1_Splice_Site_p.Q54_splice	NM_003849	NP_003840	P53597	SUCA_HUMAN	succinate-CoA ligase, GDP-forming alpha subunit						tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity				0					Succinic acid(DB00139)	GATATACATACCTGTTTGCCA	0.299													T	84676772	C	T	84676772	5	4	104	1	0	0	0	0	0	0	1	0	15363	521	18	4	870	4	SUCLG1	2	84676772	Splice_Site	SNP	C	TCGA-BR-8680-01A-11D-2394-08	8755223	84676772	158522601	951	67565											
ATOH8	84913	broad.mit.edu	37	chr2	85981435	85981435	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcgcgaacggctataaAactttccgactggacttgga	12	11	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:85981435A>C	uc002sqn.2	+	1	527	c.123A>C	c.(121-123)AAA>AAC	p.K41N	ATOH8_uc002sqm.3_Missense_Mutation_p.K41N	NM_032827	NP_116216	Q96SQ7	ATOH8_HUMAN	atonal homolog 8	41					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						ACGGCTATAAAACTTTCCGAC	0.667													C	85981435	A	C	85981435	3	2	104	1	0	0	0	0	1	0	0	0	1114	11	1	5	125	5	ATOH8	2	85981435	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1304663	85981435	157217938	952	67566											
POLR1A	25885	broad.mit.edu	37	chr2	86270116	86270116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctgagtcccagggctgCggccattgcggttttcactc	11	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:86270116C>T	uc002sqs.2	-	23	3717	c.3338G>A	c.(3337-3339)CGC>CAC	p.R1113H	POLR1A_uc010ytb.1_Missense_Mutation_p.R479H|POLR1A_uc002sqt.1_Missense_Mutation_p.R136H	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1113					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						CCCAGGGCTGCGGCCATTGCG	0.542													T	86270116	C	T	86270116	3	4	104	1	0	0	0	0	1	0	0	0	12209	768	27	1	1872	1	POLR1A	2	86270116	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	288681	86270116	156929257	953	67567											
MRPS5	64969	broad.mit.edu	37	chr2	95766633	95766633	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaatggtgaactgctctgtTctttgcctgaaaggaaaatg	10	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:95766633T>C	uc002sub.2	-	9	1035	c.817A>G	c.(817-819)AAC>GAC	p.N273D	MRPS5_uc002suc.2_RNA	NM_031902	NP_114108	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	273	S5 DRBM.				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			ovary(2)|central_nervous_system(1)	3						ACTGCTCTGTTCTTTGCCTGA	0.269													C	95766633	T	C	95766633	3	2	104	1	0	0	0	0	1	0	0	0	9846	1783	62	3	491	3	MRPS5	2	95766633	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	9496517	95766633	147432740	954	67568											
ZNF514	84874	broad.mit.edu	37	chr2	95815627	95815627	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcattacatttacaagatttCttttctgggtgggttctctg	8	7	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:95815627C>A	uc002sue.1	-	5	977	c.603G>T	c.(601-603)AAG>AAT	p.K201N	ZNF514_uc002sud.1_Missense_Mutation_p.K274N	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	zinc finger protein 514	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TACAAGATTTCTTTTCTGGGT	0.438													A	95815627	C	A	95815627	3	1	104	1	0	0	0	0	1	0	0	0	17956	912	32	5	603	5	ZNF514	2	95815627	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	48994	95815627	147383746	955	67569											
KCNIP3	30818	broad.mit.edu	37	chr2	96048135	96048135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctccaggagatgctggCcatcatgaagtccatctatg	9	14	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:96048135C>T	uc002sup.2	+	7	681	c.566C>T	c.(565-567)GCC>GTC	p.A189V	KCNIP3_uc002suq.2_Missense_Mutation_p.A163V	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3 isoform 1	189	EF-hand 3.				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			breast(2)|ovary(1)	3				READ - Rectum adenocarcinoma(193;0.13)		GAGATGCTGGCCATCATGAAG	0.662													T	96048135	C	T	96048135	3	4	104	1	0	0	0	0	1	0	0	0	8041	739	26	2	699	2	KCNIP3	2	96048135	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	232508	96048135	147151238	956	67570											
ADRA2B	151	broad.mit.edu	37	chr2	96781139	96781139	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccttctccccagtggacttCgagtgtccgttgacctctct	8	15	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:96781139C>T	uc002svi.2	-	1	750	c.750G>A	c.(748-750)TCG>TCA	p.S250S		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	250	Cytoplasmic (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CAGTGGACTTCGAGTGTCCGT	0.652													T	96781139	C	T	96781139	2	4	104	1	0	0	0	0	0	0	0	1	338	871	31	1		1	ADRA2B	2	96781139	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	733004	96781139	146418234	957	67571											
ITPRIPL1	150771	broad.mit.edu	37	chr2	96992397	96992397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgcagaggcctccatgGctgtgataagcctgctgttc	12	11	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:96992397G>A	uc002svx.2	+	3	363	c.28G>A	c.(28-30)GCT>ACT	p.A10T	ITPRIPL1_uc010yuk.1_Missense_Mutation_p.A2T|ITPRIPL1_uc002svy.2_Missense_Mutation_p.A18T|ITPRIPL1_uc010yul.1_Missense_Mutation_p.A2T	NM_001008949	NP_001008949	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-triphosphate receptor interacting	10						integral to membrane				central_nervous_system(2)|ovary(1)	3						GGCCTCCATGGCTGTGATAAG	0.527													A	96992397	G	A	96992397	3	1	104	1	0	0	0	0	1	0	0	0	7924	1203	42	2	68	2	ITPRIPL1	2	96992397	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	211258	96992397	146206976	958	67572											
FAHD2B	151313	broad.mit.edu	37	chr2	97749770	97749770	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccctgggtaaaaggtaacaAacctggagcaaagcaaaagg	11	9	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:97749770A>C	uc002sxm.2	-	7	948	c.797T>G	c.(796-798)TTT>TGT	p.F266C		NM_199336	NP_955368	Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing	266							hydrolase activity|metal ion binding				0						AAAGGTAACAAACCTGGAGCA	0.552													C	97749770	A	C	97749770	3	2	104	1	0	0	0	0	1	0	0	0	5374	14	1	5	155	5	FAHD2B	2	97749770	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	757373	97749770	145449603	959	67573											
ANKRD36B	57730	broad.mit.edu	37	chr2	98165944	98165944	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaacagaatcttccttgAcacttgtagcctgaatggaa	7	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:98165944A>G	uc010yvc.1	-	20	1695	c.1415T>C	c.(1414-1416)GTC>GCC	p.V472A	ANKRD36B_uc010yve.1_RNA	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B	472											0						ATCTTCCTTGACACTTGTAGC	0.294													G	98165944	A	G	98165944	3	3	104	1	0	0	0	0	1	0	0	0	666	275	10	3	2742	3	ANKRD36B	2	98165944	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	416174	98165944	145033429	960	67574											
ZAP70	7535	broad.mit.edu	37	chr2	98341627	98341627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcattgctacgacggcccacGagcggatgccctggtaccac	11	15	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:98341627G>A	uc002syd.1	+	4	682	c.475G>A	c.(475-477)GAG>AAG	p.E159K	ZAP70_uc010yvf.1_Missense_Mutation_p.E159K|ZAP70_uc002sye.1_Missense_Mutation_p.E49K	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	159	Interdomain A.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						GACGGCCCACGAGCGGATGCC	0.642													A	98341627	G	A	98341627	3	1	104	1	0	0	0	0	1	0	0	0	17511	1059	37	1	481	1	ZAP70	2	98341627	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	175683	98341627	144857746	961	67575											
ZAP70	7535	broad.mit.edu	37	chr2	98354262	98354262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctcaagtggtacgcacccGaatgcatcaacttccgcaag	9	14	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:98354262G>A	uc002syd.1	+	12	1732	c.1525G>A	c.(1525-1527)GAA>AAA	p.E509K	ZAP70_uc002sye.1_Missense_Mutation_p.E399K|ZAP70_uc002syf.1_Missense_Mutation_p.E202K	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	509	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						GTACGCACCCGAATGCATCAA	0.637													A	98354262	G	A	98354262	3	1	104	1	0	0	0	0	1	0	0	0	17511	1059	37	1	1563	1	ZAP70	2	98354262	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	12635	98354262	144845111	962	67576											
TMEM131	23505	broad.mit.edu	37	chr2	98409193	98409193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaccttgagtcactgtgttcGaatctaagacaagggggctt	12	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:98409193G>A	uc002syh.3	-	31	4029	c.3800C>T	c.(3799-3801)TCG>TTG	p.S1267L		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1267						integral to membrane				ovary(4)|central_nervous_system(2)	6						CACTGTGTTCGAATCTAAGAC	0.527													A	98409193	G	A	98409193	3	1	104	1	0	0	0	0	1	0	0	0	16041	1059	37	1	1895	1	TMEM131	2	98409193	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	54931	98409193	144790180	963	67577											
TMEM131	23505	broad.mit.edu	37	chr2	98431743	98431743	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taactgttattttcccagaaAactgagatggcttttttgcc	7	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:98431743A>C	uc002syh.3	-	13	1440	c.1211T>G	c.(1210-1212)TTT>TGT	p.F404C	TMEM131_uc010yvg.1_RNA	NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	404						integral to membrane				ovary(4)|central_nervous_system(2)	6						TTTCCCAGAAAACTGAGATGG	0.303													C	98431743	A	C	98431743	3	2	104	1	0	0	0	0	1	0	0	0	16041	14	1	5	4556	5	TMEM131	2	98431743	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	22550	98431743	144767630	964	67578											
LIPT1	51601	broad.mit.edu	37	chr2	99779151	99779151	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatcatcaaattgataatcAcattcacctaataaacccaa	1	10	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:99779151A>G	uc002szm.3	+	4	1071	c.731A>G	c.(730-732)CAC>CGC	p.H244R	MRPL30_uc002szl.1_Intron|LIPT1_uc002szn.3_Missense_Mutation_p.H244R|LIPT1_uc002szo.3_Missense_Mutation_p.H244R|LIPT1_uc002szp.3_Missense_Mutation_p.H244R|LIPT1_uc002szq.3_Missense_Mutation_p.H244R|MRPL30_uc002szr.2_Intron	NM_145198	NP_660199	Q9Y234	LIPT_HUMAN	lipoyltransferase 1 precursor	244					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity				0					Lipoic Acid(DB00166)	ATTGATAATCACATTCACCTA	0.383													G	99779151	A	G	99779151	3	3	104	1	0	0	0	0	1	0	0	0	8829	159	6	3	733	3	LIPT1	2	99779151	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1347408	99779151	143420222	965	67579											
LYG2	254773	broad.mit.edu	37	chr2	99858912	99858912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccgatggggtggcaatcGcttcaattcctgacttaaaa	10	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:99858912G>A	uc002szw.1	-	6	667	c.554C>T	c.(553-555)GCG>GTG	p.A185V	MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_3'UTR	NM_175735	NP_783862	Q86SG7	LYG2_HUMAN	lysozyme G-like 2 precursor	185					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			ovary(1)	1						GGTGGCAATCGCTTCAATTCC	0.403													A	99858912	G	A	99858912	3	1	104	1	0	0	0	0	1	0	0	0	9105	1087	38	1	88	1	LYG2	2	99858912	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	79761	99858912	143340461	966	67580											
LYG2	254773	broad.mit.edu	37	chr2	99860496	99860497	+	Frame_Shift_Ins	INS	-	-	T													caacactccacgtggggaatINStttttctggattgccttaat							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:99860495_99860496A>AT	uc002szw.1	-	4	599_600	c.486_487T>AT	c.(484-489)aaattcfs	p.K162fs	MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Frame_Shift_Ins_p.K162fs|LYG2_uc002szx.1_Frame_Shift_Ins_p.K162fs	NM_175735	NP_783862	Q86SG7	LYG2_HUMAN	Homo sapiens lysozyme G-like 2 (LYG2), mRNA.	162					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						CACGTGGGGAATTTTTTCTGGA	0.46													T	99860497	-	T	99860496	7	5	104	1	0	1	1	0	0	0	0	0	9105	1490	52	0	160	0	LYG2	2	99860496	Frame_Shift_Ins	INS	-	TCGA-BR-8680-01A-11D-2394-08	1584	99860496	143338877	967	67581											
EIF5B	9669	broad.mit.edu	37	chr2	100009490	100009490	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggtaaagattcttggaaaaGacctggagaaaacattggct	12	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:100009490G>T	uc002tab.2	+	18	2993	c.2809G>T	c.(2809-2811)GAC>TAC	p.D937Y	EIF5B_uc010yvq.1_5'Flank	NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	937					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						TCTTGGAAAAGACCTGGAGAA	0.338													T	100009490	G	T	100009490	3	4	104	1	0	0	0	0	1	0	0	0	5044	942	33	5	2879	5	EIF5B	2	100009490	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	148994	100009490	143189883	968	67582											
EIF5B	9669	broad.mit.edu	37	chr2	100011005	100011005	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acattggcccagtgcataaaAaagatgttatgaaggcttca	9	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:100011005A>C	uc002tab.2	+	20	3230	c.3046A>C	c.(3046-3048)AAA>CAA	p.K1016Q	EIF5B_uc010yvq.1_5'UTR	NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1016					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						AGTGCATAAAAAAGATGTTAT	0.383													C	100011005	A	C	100011005	3	2	104	1	0	0	0	0	1	0	0	0	5044	15	1	5	3124	5	EIF5B	2	100011005	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1515	100011005	143188368	969	67583											
REV1	51455	broad.mit.edu	37	chr2	100037985	100037985	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaacagaggcagcacattTcgtctggtctttgatttcca	8	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:100037985T>G	uc002tad.2	-	11	2019	c.1807A>C	c.(1807-1809)AAA>CAA	p.K603Q	REV1_uc002tac.2_Missense_Mutation_p.K602Q	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	603	UmuC.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2						GCAGCACATTTCGTCTGGTCT	0.378								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					G	100037985	T	G	100037985	3	3	104	1	0	0	0	0	1	0	0	0	13239	1792	62	5	2000	5	REV1	2	100037985	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	26980	100037985	143161388	970	67584											
AFF3	3899	broad.mit.edu	37	chr2	100181988	100181988	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgaatacatcgtataaggaGatttggattccatggggcct	11	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:100181988G>T	uc002tag.2	-	19	3316	c.3080C>A	c.(3079-3081)TCT>TAT	p.S1027Y	AFF3_uc002taf.2_Missense_Mutation_p.S1052Y	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	1027					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						CGTATAAGGAGATTTGGATTC	0.453													T	100181988	G	T	100181988	3	4	104	1	0	0	0	0	1	0	0	0	358	942	33	5	624	5	AFF3	2	100181988	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	144003	100181988	143017385	971	67585											
AFF3	3899	broad.mit.edu	37	chr2	100209899	100209899	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggggaccagtgtgtagaActgctcctccagctccttgg	12	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:100209899A>C	uc002tag.2	-	14	2460	c.2224T>G	c.(2224-2226)TTC>GTC	p.F742V	AFF3_uc002taf.2_Missense_Mutation_p.F767V|AFF3_uc010fiq.1_Missense_Mutation_p.F742V|AFF3_uc010yvr.1_Missense_Mutation_p.F895V|AFF3_uc002tah.1_Missense_Mutation_p.F767V	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	742					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						AGTGTGTAGAACTGCTCCTCC	0.592													C	100209899	A	C	100209899	3	2	104	1	0	0	0	0	1	0	0	0	358	43	2	5	1500	5	AFF3	2	100209899	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	27911	100209899	142989474	972	67586											
NPAS2	4862	broad.mit.edu	37	chr2	101549440	101549440	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttcattcctcagtaatgaaGaattcacccagctgatgttg	7	10	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:101549440G>T	uc002tap.1	+	4	536	c.250G>T	c.(250-252)GAA>TAA	p.E84*	NPAS2_uc010yvt.1_Nonsense_Mutation_p.E149*	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	84	PAS 1.				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4						CAGTAATGAAGAATTCACCCA	0.398													T	101549440	G	T	101549440	4	4	104	1	0	0	0	0	0	1	0	0	10563	943	33	5	260	5	NPAS2	2	101549440	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1339541	101549440	141649933	973	67587											
MAP4K4	9448	broad.mit.edu	37	chr2	102456429	102456429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcttaaggatcatatagatCgtaccaggaagaagagaggc	12	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:102456429C>T	uc002tbg.2	+	10	977	c.922C>T	c.(922-924)CGT>TGT	p.R308C	MAP4K4_uc002tbc.2_Missense_Mutation_p.R308C|MAP4K4_uc002tbd.2_Missense_Mutation_p.R308C|MAP4K4_uc002tbe.2_Missense_Mutation_p.R308C|MAP4K4_uc002tbf.2_Missense_Mutation_p.R308C|MAP4K4_uc010yvy.1_Missense_Mutation_p.R308C|MAP4K4_uc002tbh.2_Missense_Mutation_p.R308C|MAP4K4_uc002tbi.2_Intron|MAP4K4_uc010yvz.1_Missense_Mutation_p.R288C|MAP4K4_uc010fiw.1_Missense_Mutation_p.R150C|MAP4K4_uc002tbj.1_Missense_Mutation_p.R204C	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	308					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						TCATATAGATCGTACCAGGAA	0.403													T	102456429	C	T	102456429	3	4	104	1	0	0	0	0	1	0	0	0	9262	884	31	1	960	1	MAP4K4	2	102456429	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	906989	102456429	140742944	974	67588											
IL1R2	7850	broad.mit.edu	37	chr2	102636172	102636172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccactcacttactcgtacacGatgtggccctggaagatgct	9	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:102636172G>A	uc002tbm.2	+	5	815	c.586G>A	c.(586-588)GAT>AAT	p.D196N	IL1R2_uc002tbn.2_Missense_Mutation_p.D196N|IL1R2_uc002tbo.1_Missense_Mutation_p.D196N	NM_004633	NP_004624	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II precursor	196	Extracellular (Potential).|Ig-like C2-type 2.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			ovary(1)|breast(1)	2					Anakinra(DB00026)	ACTCGTACACGATGTGGCCCT	0.428													A	102636172	G	A	102636172	3	1	104	1	0	0	0	0	1	0	0	0	7659	1058	37	1	600	1	IL1R2	2	102636172	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	179743	102636172	140563201	975	67589											
IL18R1	8809	broad.mit.edu	37	chr2	103006646	103006646	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacttggttctattttatagAcatttaacgagaagagatga	9	4	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:103006646A>G	uc002tbw.3	+	9	1230	c.1080A>G	c.(1078-1080)AGA>AGG	p.R360R	IL18R1_uc010ywc.1_Silent_p.R359R|IL18R1_uc010ywd.1_Silent_p.R204R|IL18R1_uc010fiy.2_Silent_p.R360R	NM_003855	NP_003846	Q13478	IL18R_HUMAN	interleukin 18 receptor 1 precursor	360	Cytoplasmic (Potential).				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			ovary(2)|pancreas(1)	3						TATTTTATAGACATTTAACGA	0.338													G	103006646	A	G	103006646	2	3	104	1	0	0	0	0	0	0	0	1	7647	272	10	3		3	IL18R1	2	103006646	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	370474	103006646	140192727	976	67590											
IL18RAP	8807	broad.mit.edu	37	chr2	103053710	103053710	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggaaaggagcaaccgaatCgtagtggatgaagtttatga	14	4	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:103053710C>T	uc002tbx.2	+	6	1102	c.618C>T	c.(616-618)ATC>ATT	p.I206I	IL18RAP_uc010fiz.2_Silent_p.I64I	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	206	Ig-like C2-type 1.|Extracellular (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			skin(3)|ovary(2)	5						GCAACCGAATCGTAGTGGATG	0.388													T	103053710	C	T	103053710	2	4	104	1	0	0	0	0	0	0	0	1	7648	874	31	1		1	IL18RAP	2	103053710	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	47064	103053710	140145663	977	67591											
SLC9A4	389015	broad.mit.edu	37	chr2	103142801	103142801	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacacaagggctgctgggttCtcaggtaagctgcccacctg	13	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:103142801C>A	uc002tbz.3	+	11	2491	c.2034C>A	c.(2032-2034)TTC>TTA	p.F678L		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	678	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						CTGCTGGGTTCTCAGGTAAGC	0.388													A	103142801	C	A	103142801	3	1	104	1	0	0	0	0	1	0	0	0	14716	912	32	5	2076	5	SLC9A4	2	103142801	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	89091	103142801	140056572	978	67592											
SLC9A2	6549	broad.mit.edu	37	chr2	103281693	103281693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttcttgggctttatagcGgcatttactactcgattcac	7	10	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:103281693G>A	uc002tca.2	+	3	1030	c.888G>A	c.(886-888)GCG>GCA	p.A296A		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	296	Helical; Name=H/M6; (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						GCTTTATAGCGGCATTTACTA	0.438													A	103281693	G	A	103281693	2	1	104	1	0	0	0	0	0	0	0	1	14712	1103	39	1		1	SLC9A2	2	103281693	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	138892	103281693	139917680	979	67593											
TMEM182	130827	broad.mit.edu	37	chr2	103431205	103431205	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgtttcatccttctcAggcatcctattttcattggt	5	11	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:103431205A>C	uc010fjb.2	+	5	657	c.470_splice	c.e5-2	p.G157_splice	TMEM182_uc002tcc.3_Splice_Site_p.G114_splice|TMEM182_uc002tcd.3_Splice_Site_p.G61_splice|TMEM182_uc010ywe.1_Splice_Site	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN	transmembrane protein 182 precursor							integral to membrane					0						CATCCTTCTCAGGCATCCTAT	0.448													C	103431205	A	C	103431205	5	2	104	1	0	0	0	0	0	0	1	0	16098	202	7	5	486	5	TMEM182	2	103431205	Splice_Site	SNP	A	TCGA-BR-8680-01A-11D-2394-08	149512	103431205	139768168	980	67594											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105915107	105915107	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagccgccccaatcacattCtccgaccagtgcacgggggc	10	17	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:105915107C>T	uc002tcq.2	-	3	828	c.744G>A	c.(742-744)GAG>GAA	p.E248E	TGFBRAP1_uc010fjc.2_Silent_p.E18E|TGFBRAP1_uc002tcr.3_Silent_p.E248E	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor	248	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|skin(1)	2						CAATCACATTCTCCGACCAGT	0.522													T	105915107	C	T	105915107	2	4	104	1	0	0	0	0	0	0	0	1	15821	912	32	4		4	TGFBRAP1	2	105915107	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2483902	105915107	137284266	981	67595											
ST6GAL2	84620	broad.mit.edu	37	chr2	107450509	107450509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actccatctgtcttacctgcGaattaatgatgcgtatggtg	9	9	2	1	rs138821621		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:107450509G>A	uc002tdq.2	-	3	1156	c.1037C>T	c.(1036-1038)TCG>TTG	p.S346L	ST6GAL2_uc002tdr.2_Missense_Mutation_p.S346L|ST6GAL2_uc002tds.3_Missense_Mutation_p.S346L	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	346	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						TCTTACCTGCGAATTAATGAT	0.393													A	107450509	G	A	107450509	3	1	104	1	0	0	0	0	1	0	0	0	15221	1059	37	1	655	1	ST6GAL2	2	107450509	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1535402	107450509	135748864	982	67596											
SLC5A7	60482	broad.mit.edu	37	chr2	108626988	108626988	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attaccctgatgataatggtAtatataatcagaaatttcca	5	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:108626988A>G	uc002tdv.2	+	9	1690	c.1414A>G	c.(1414-1416)ATA>GTA	p.I472V	SLC5A7_uc010ywm.1_Missense_Mutation_p.I225V|SLC5A7_uc010fjj.2_Missense_Mutation_p.I472V|SLC5A7_uc010ywn.1_Missense_Mutation_p.I359V	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	472	Cytoplasmic (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4					Choline(DB00122)	TGATAATGGTATATATAATCA	0.383													G	108626988	A	G	108626988	3	3	104	1	0	0	0	0	1	0	0	0	14670	449	16	3	1444	3	SLC5A7	2	108626988	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1176479	108626988	134572385	983	67597											
SULT1C3	442038	broad.mit.edu	37	chr2	108875197	108875197	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacttcttccagttgttggCgggtcctggtttgaccatgt	12	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:108875197C>T	uc010ywo.1	+	5	534	c.534C>T	c.(532-534)GGC>GGT	p.G178G		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member	178						cytoplasm	alcohol sulfotransferase activity			skin(1)	1						CAGTTGTTGGCGGGTCCTGGT	0.448													T	108875197	C	T	108875197	2	4	104	1	0	0	0	0	0	0	0	1	15375	755	27	1		1	SULT1C3	2	108875197	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	248209	108875197	134324176	984	67598											
GCC2	9648	broad.mit.edu	37	chr2	109086173	109086173	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacatataaactatgtgaaaGaaattgaaaatttgaaaaat	5	3	0	4	rs35216570		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:109086173G>T	uc002tec.2	+	6	542	c.388G>T	c.(388-390)GAA>TAA	p.E130*	GCC2_uc002ted.2_Nonsense_Mutation_p.E29*	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	130	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						CTATGTGAAAGAAATTGAAAA	0.323													T	109086173	G	T	109086173	4	4	104	1	0	0	0	0	0	1	0	0	6286	943	33	5	410	5	GCC2	2	109086173	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	210976	109086173	134113200	985	67599											
GCC2	9648	broad.mit.edu	37	chr2	109087388	109087388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgaaaaagatgcccttctcGaaactgtgaatcgcctccag	8	12	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:109087388G>A	uc002tec.2	+	6	1757	c.1603G>A	c.(1603-1605)GAA>AAA	p.E535K	GCC2_uc002ted.2_Missense_Mutation_p.E434K	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	535	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						tgcccttctcgaaactgtgaa	0.149													A	109087388	G	A	109087388	3	1	104	1	0	0	0	0	1	0	0	0	6286	1059	37	1	1625	1	GCC2	2	109087388	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1215	109087388	134111985	986	67600											
GCC2	9648	broad.mit.edu	37	chr2	109088540	109088540	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactagaacaaaaagaattaCgagataggagagcagagttg	11	4	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:109088540C>T	uc002tec.2	+	6	2909	c.2755C>T	c.(2755-2757)CGA>TGA	p.R919*	GCC2_uc002ted.2_Nonsense_Mutation_p.R818*	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	919	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						AAAAGAATTACGAGATAGGAG	0.279													T	109088540	C	T	109088540	4	4	104	1	0	0	0	0	0	1	0	0	6286	528	19	1	2777	1	GCC2	2	109088540	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1152	109088540	134110833	987	67601											
RANBP2	5903	broad.mit.edu	37	chr2	109379884	109379884	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggtgatgattactttaaTtacaatgttcaacagacaag	9	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:109379884T>G	uc002tem.3	+	20	3015	c.2889T>G	c.(2887-2889)AAT>AAG	p.N963K		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	963					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						ATTACTTTAATTACAATGTTC	0.443													G	109379884	T	G	109379884	3	3	104	1	0	0	0	0	1	0	0	0	13028	1490	52	5	2967	5	RANBP2	2	109379884	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	291344	109379884	133819489	988	67602											
RANBP2	5903	broad.mit.edu	37	chr2	109380976	109380976	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaattgtaaaagaacccacAagtcatgataacaaggatat	7	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:109380976A>G	uc002tem.3	+	20	4107	c.3981A>G	c.(3979-3981)ACA>ACG	p.T1327T		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1327					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						AAGAACCCACAAGTCATGATA	0.398													G	109380976	A	G	109380976	2	3	104	1	0	0	0	0	0	0	0	1	13028	117	5	3		3	RANBP2	2	109380976	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1092	109380976	133818397	989	67603											
RANBP2	5903	broad.mit.edu	37	chr2	109382509	109382509	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttctggaagtcaggtgggAacaggatttaaaagtaattt	11	4	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:109382509A>G	uc002tem.3	+	20	5640	c.5514A>G	c.(5512-5514)GGA>GGG	p.G1838G		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1838					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						GTCAGGTGGGAACAGGATTTA	0.398													G	109382509	A	G	109382509	2	3	104	1	0	0	0	0	0	0	0	1	13028	233	9	3		3	RANBP2	2	109382509	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1533	109382509	133816864	990	67604											
RANBP2	5903	broad.mit.edu	37	chr2	109400188	109400188	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggccagaataccaataAttctcaatttgttataacac	4	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:109400188A>C	uc002tem.3	+	29	9632	c.9506A>C	c.(9505-9507)AAT>ACT	p.N3169T		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	3169	PPIase cyclophilin-type.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						AATACCAATAATTCTCAATTT	0.348													C	109400188	A	C	109400188	3	2	104	1	0	0	0	0	1	0	0	0	13028	101	4	5	9620	5	RANBP2	2	109400188	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	17679	109400188	133799185	991	67605											
CCDC138	165055	broad.mit.edu	37	chr2	109489943	109489943	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctggaagcctgtagcaactCtttattttttcgtacttgct	7	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:109489943C>A	uc002ten.1	+	14	1790	c.1730C>A	c.(1729-1731)TCT>TAT	p.S577Y	CCDC138_uc002teo.1_Intron|CCDC138_uc002tep.1_Missense_Mutation_p.S261Y|CCDC138_uc010fjm.1_Intron	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	577											0						TGTAGCAACTCTTTATTTTTT	0.363													A	109489943	C	A	109489943	3	1	104	1	0	0	0	0	1	0	0	0	2772	913	32	5	1784	5	CCDC138	2	109489943	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	89755	109489943	133709430	992	67606											
NPHP1	4867	broad.mit.edu	37	chr2	110901211	110901211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataatctggtagaaaacactGccgtgtgcttttaagaaaaa	8	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:110901211G>A	uc002tfn.3	-	16	1696	c.1602C>T	c.(1600-1602)GGC>GGT	p.G534G	NPHP1_uc002tfm.3_Silent_p.G479G|NPHP1_uc002tfl.3_Silent_p.G535G|NPHP1_uc002tfo.3_Silent_p.G416G|NPHP1_uc010ywx.1_Silent_p.G478G|NPHP1_uc010fjv.1_Silent_p.G478G	NM_207181	NP_997064	O15259	NPHP1_HUMAN	nephrocystin 1 isoform 2	534					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			ovary(2)	2						AGAAAACACTGCCGTGTGCTT	0.358													A	110901211	G	A	110901211	2	1	104	1	0	0	0	0	0	0	0	1	10579	1306	46	2		2	NPHP1	2	110901211	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1411268	110901211	132298162	993	67607											
BUB1	699	broad.mit.edu	37	chr2	111419366	111419366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttactggaagacatggcGctctcagttcctgctgggag	14	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:111419366G>A	uc002tgc.2	-	10	1122	c.1010C>T	c.(1009-1011)GCG>GTG	p.A337V	BUB1_uc010yxh.1_Missense_Mutation_p.A317V|BUB1_uc010fkb.2_Missense_Mutation_p.A337V|BUB1_uc002tgd.2_Missense_Mutation_p.A337V	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	337					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AAGACATGGCGCTCTCAGTTC	0.453													A	111419366	G	A	111419366	3	1	104	1	0	0	0	0	1	0	0	0	1570	1087	38	1	2311	1	BUB1	2	111419366	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	518155	111419366	131780007	994	67608											
BUB1	699	broad.mit.edu	37	chr2	111431780	111431780	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctttattctcaggaaaattCtcttctacccactgtatgta	4	10	4	0	rs1801328		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:111431780C>A	uc002tgc.2	-	3	220	c.108G>T	c.(106-108)GAG>GAT	p.E36D	BUB1_uc010yxh.1_Missense_Mutation_p.E16D|BUB1_uc010fkb.2_Missense_Mutation_p.E36D|BUB1_uc002tgd.2_Missense_Mutation_p.E36D	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	36	BUB1 N-terminal.|Necessary for kinetochore localization.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CAGGAAAATTCTCTTCTACCC	0.294													A	111431780	C	A	111431780	3	1	104	1	0	0	0	0	1	0	0	0	1570	912	32	5	3241	5	BUB1	2	111431780	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	12414	111431780	131767593	995	67609											
ANAPC1	64682	broad.mit.edu	37	chr2	112583386	112583386	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggttaaatactgtgaggatTcatcagaaaccaagctctca	8	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:112583386T>G	uc002thi.2	-	22	2919	c.2672A>C	c.(2671-2673)GAA>GCA	p.E891A		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	891					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				skin(2)	2						CTGTGAGGATTCATCAGAAAC	0.289													G	112583386	T	G	112583386	3	3	104	1	0	0	0	0	1	0	0	0	598	1783	62	5	3270	5	ANAPC1	2	112583386	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1151606	112583386	130615987	996	67610											
TTL	150465	broad.mit.edu	37	chr2	113286288	113286288	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagaactgtgccaaggcatCgtggacatagccatttccag	11	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:113286288C>T	uc002thu.2	+	7	1229	c.1050C>T	c.(1048-1050)ATC>ATT	p.I350I	TTL_uc010fkm.1_Intron	NM_153712	NP_714923	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	350	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		GCCAAGGCATCGTGGACATAG	0.453			T	ETV6	ALL								T	113286288	C	T	113286288	2	4	104	1	0	0	0	0	0	0	0	1	16718	874	31	1		1	TTL	2	113286288	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	702902	113286288	129913085	997	67611											
POLR1B	84172	broad.mit.edu	37	chr2	113310287	113310287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatgctttgtctcatgacgcGaaagctctttgctttagcca	8	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:113310287G>A	uc002thw.2	+	7	1632	c.1052G>A	c.(1051-1053)CGA>CAA	p.R351Q	POLR1B_uc010fkn.2_Missense_Mutation_p.R295Q|POLR1B_uc002thx.2_Missense_Mutation_p.R212Q|POLR1B_uc010fko.2_Missense_Mutation_p.R351Q|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Missense_Mutation_p.R389Q|POLR1B_uc002thy.2_Missense_Mutation_p.R212Q|POLR1B_uc010yxo.1_Missense_Mutation_p.R128Q	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	351					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1						CTCATGACGCGAAAGCTCTTT	0.408													A	113310287	G	A	113310287	3	1	104	1	0	0	0	0	1	0	0	0	12210	1058	37	1	1078	1	POLR1B	2	113310287	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	23999	113310287	129889086	998	67612											
POLR1B	84172	broad.mit.edu	37	chr2	113330196	113330196	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaccgatcggataacaaacTgtatcgtcttcagactcctc	7	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:113330196T>G	uc002thw.2	+	13	2712	c.2132T>G	c.(2131-2133)CTG>CGG	p.L711R	POLR1B_uc010fkn.2_Missense_Mutation_p.L655R|POLR1B_uc002thx.2_Missense_Mutation_p.L572R|POLR1B_uc010fko.2_Missense_Mutation_p.L528R|POLR1B_uc010fkp.2_Missense_Mutation_p.L150R|POLR1B_uc010yxn.1_Missense_Mutation_p.L749R|POLR1B_uc002thy.2_Missense_Mutation_p.L572R|POLR1B_uc010yxo.1_Missense_Mutation_p.L488R	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	711					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1						GATAACAAACTGTATCGTCTT	0.418													G	113330196	T	G	113330196	3	3	104	1	0	0	0	0	1	0	0	0	12210	1580	55	5	2182	5	POLR1B	2	113330196	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	19909	113330196	129869177	999	67613											
CKAP2L	150468	broad.mit.edu	37	chr2	113513567	113513567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtaccttcgatcctctgCtgttgccttctttttaatat	5	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:113513567C>T	uc002tie.2	-	4	1460	c.1381G>A	c.(1381-1383)GCA>ACA	p.A461T	CKAP2L_uc002tif.2_Missense_Mutation_p.A50T|CKAP2L_uc010yxp.1_Missense_Mutation_p.A296T|CKAP2L_uc010yxq.1_Missense_Mutation_p.A296T	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	461						centrosome					0						CGATCCTCTGCTGTTGCCTTC	0.398													T	113513567	C	T	113513567	3	4	104	1	0	0	0	0	1	0	0	0	3443	797	28	2	880	2	CKAP2L	2	113513567	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	183371	113513567	129685806	1000	67614											
CKAP2L	150468	broad.mit.edu	37	chr2	113514428	113514428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagaaagttatccaaagattCgttttcaacatggatattat	6	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:113514428C>T	uc002tie.2	-	4	599	c.520G>A	c.(520-522)GAA>AAA	p.E174K	CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Missense_Mutation_p.E9K|CKAP2L_uc010yxq.1_Missense_Mutation_p.E9K	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	174						centrosome					0						TCCAAAGATTCGTTTTCAACA	0.323													T	113514428	C	T	113514428	3	4	104	1	0	0	0	0	1	0	0	0	3443	893	31	1	1741	1	CKAP2L	2	113514428	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	861	113514428	129684945	1001	67615											
IL1A	3552	broad.mit.edu	37	chr2	113532656	113532656	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccagacctacgcctggttTtccagtatctgaaagtcagt	8	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:113532656T>G	uc002tig.2	-	7	1764	c.804A>C	c.(802-804)GAA>GAC	p.E268D		NM_000575	NP_000566	P01583	IL1A_HUMAN	interleukin 1, alpha proprotein	268					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			lung(1)	1						ACGCCTGGTTTTCCAGTATCT	0.463													G	113532656	T	G	113532656	3	3	104	1	0	0	0	0	1	0	0	0	7650	1838	64	5	15	5	IL1A	2	113532656	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	18228	113532656	129666717	1002	67616											
IL1B	3553	broad.mit.edu	37	chr2	113593779	113593779	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctgtaataagccatcatttCactggcgagctcaggtactt	8	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:113593779C>A	uc002tii.1	-	2	115	c.28G>T	c.(28-30)GAA>TAA	p.E10*	IL1B_uc002tih.1_5'Flank	NM_000576	NP_000567	P01584	IL1B_HUMAN	interleukin 1, beta proprotein	10					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			lung(3)|breast(1)	4					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	GCCATCATTTCACTGGCGAGC	0.478													A	113593779	C	A	113593779	4	1	104	1	0	0	0	0	0	1	0	0	7651	835	29	5	805	5	IL1B	2	113593779	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	61123	113593779	129605594	1003	67617											
PAX8	7849	broad.mit.edu	37	chr2	114002048	114002048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtgtcattgtcacagacGccctcagccaggagccggtc	11	14	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:114002048G>A	uc010yxt.1	-	4	511	c.345C>T	c.(343-345)GGC>GGT	p.G115G	PAX8_uc010yxu.1_Silent_p.G115G|PAX8_uc010yxv.1_Silent_p.G115G|PAX8_uc002tjm.2_Silent_p.G115G|PAX8_uc002tjn.2_Silent_p.G115G|PAX8_uc010fku.1_Silent_p.G115G|LOC654433_uc002tjq.3_Intron|LOC654433_uc010fks.2_Intron|LOC654433_uc010fkt.2_Intron|LOC654433_uc002tjr.3_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	paired box 8 isoform PAX8A	115	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity			ovary(1)|lung(1)	2						TGTCACAGACGCCCTCAGCCA	0.577			T	PPARG	follicular thyroid		Thyroid dysgenesis 						A	114002048	G	A	114002048	2	1	104	1	0	0	0	0	0	0	0	1	11485	1074	38	1		1	PAX8	2	114002048	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	408269	114002048	129197325	1004	67618											
CBWD2	150472	broad.mit.edu	37	chr2	114220051	114220051	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttccagaagaagatgtaaaGaaattaagagcgacaattag	10	4	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:114220051G>T	uc002tju.2	+	8	820	c.642G>T	c.(640-642)AAG>AAT	p.K214N	CBWD2_uc010yxw.1_Missense_Mutation_p.K178N|CBWD2_uc002tjv.2_Missense_Mutation_p.K178N|CBWD2_uc010fkv.2_RNA	NM_172003	NP_742000	Q8IUF1	CBWD2_HUMAN	COBW domain-containing protein 2	214							ATP binding|protein binding				0						AAGATGTAAAGAAATTAAGAG	0.348													T	114220051	G	T	114220051	3	4	104	1	0	0	0	0	1	0	0	0	2713	933	33	5	672	5	CBWD2	2	114220051	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	218003	114220051	128979322	1005	67619											
SLC35F5	80255	broad.mit.edu	37	chr2	114476740	114476740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actaaacttacctctgaattCgatgttttctgcatataaaa	4	8	2	1	rs139024940		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:114476740C>T	uc002tku.1	-	14	1911	c.1487G>A	c.(1486-1488)CGA>CAA	p.R496Q	SLC35F5_uc002tkt.2_RNA	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	496					transport	integral to membrane					0						CCTCTGAATTCGATGTTTTCT	0.323													T	114476740	C	T	114476740	3	4	104	1	0	0	0	0	1	0	0	0	14592	884	31	1	92	1	SLC35F5	2	114476740	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	256689	114476740	128722633	1006	67620											
ACTR3	10096	broad.mit.edu	37	chr2	114699791	114699791	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagttatgtctgcccagattTagtaaaagaatttaacaagt	7	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:114699791T>C	uc002tkx.1	+	8	1033	c.713T>C	c.(712-714)TTA>TCA	p.L238S	ACTR3_uc010yyc.1_Missense_Mutation_p.L176S|ACTR3_uc010yyd.1_Missense_Mutation_p.L187S	NM_005721	NP_005712	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog	238					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding			skin(1)	1						TGCCCAGATTTAGTAAAAGAA	0.313													C	114699791	T	C	114699791	3	2	104	1	0	0	0	0	1	0	0	0	212	1764	61	3	743	3	ACTR3	2	114699791	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	223051	114699791	128499582	1007	67621											
DDX18	8886	broad.mit.edu	37	chr2	118582580	118582580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacattccttaagaagaaccGaaagaagaagcttatggtct	8	7	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:118582580G>A	uc002tlh.1	+	9	1370	c.1271G>A	c.(1270-1272)CGA>CAA	p.R424Q		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	424	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4						AAGAAGAACCGAAAGAAGAAG	0.383													A	118582580	G	A	118582580	3	1	104	1	0	0	0	0	1	0	0	0	4345	1058	37	1	1305	1	DDX18	2	118582580	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3882789	118582580	124616793	1008	67622											
CCDC93	54520	broad.mit.edu	37	chr2	118766149	118766149	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agggtgataagcctttaattCttgccctgaaatacccagct	8	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:118766149C>A	uc002tlj.2	-	2	254	c.128G>T	c.(127-129)AGA>ATA	p.R43I	CCDC93_uc010fld.1_Missense_Mutation_p.R43I	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	43										large_intestine(1)|ovary(1)	2						GCCTTTAATTCTTGCCCTGAA	0.378													A	118766149	C	A	118766149	3	1	104	1	0	0	0	0	1	0	0	0	2872	913	32	5	1859	5	CCDC93	2	118766149	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	183569	118766149	124433224	1009	67623											
PTPN4	5775	broad.mit.edu	37	chr2	120643418	120643418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taattacctaaacacagcacGtaccttagaactctatggag	6	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:120643418G>A	uc002tmf.1	+	9	1406	c.635G>A	c.(634-636)CGT>CAT	p.R212H	PTPN4_uc010flj.1_5'UTR	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	212	FERM.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	AACACAGCACGTACCTTAGAA	0.333													A	120643418	G	A	120643418	3	1	104	1	0	0	0	0	1	0	0	0	12790	1145	40	1	665	1	PTPN4	2	120643418	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1877269	120643418	122555955	1010	67624											
EPB41L5	57669	broad.mit.edu	37	chr2	120918482	120918482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttaaatgagaataatgtgCccctccccaaagagtctctt	7	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:120918482C>T	uc002tmg.2	+	21	1945	c.1819C>T	c.(1819-1821)CCC>TCC	p.P607S	EPB41L5_uc010fll.2_Missense_Mutation_p.P607S|EPB41L5_uc010flm.2_Missense_Mutation_p.P411S	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	607						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1						GAATAATGTGCCCCTCCCCAA	0.393													T	120918482	C	T	120918482	3	4	104	1	0	0	0	0	1	0	0	0	5157	739	26	2	2082	2	EPB41L5	2	120918482	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	275064	120918482	122280891	1011	67625											
RALB	5899	broad.mit.edu	37	chr2	121043651	121043651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatcctttacagcaactgccGaattcaggtatgtctgaaat	7	9	2	1	rs139389446		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:121043651G>A	uc002tmk.2	+	3	506	c.316G>A	c.(316-318)GAA>AAA	p.E106K	RALB_uc010yys.1_Missense_Mutation_p.E128K|RALB_uc002tml.2_Missense_Mutation_p.E127K|RALB_uc002tmm.2_RNA|RALB_uc010yyt.1_Intron	NM_002881	NP_002872	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	106					apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding			lung(3)	3		Prostate(154;0.122)				AGCAACTGCCGAATTCAGGTA	0.443													A	121043651	G	A	121043651	3	1	104	1	0	0	0	0	1	0	0	0	13011	1059	37	1	322	1	RALB	2	121043651	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	125169	121043651	122155722	1012	67626											
RALB	5899	broad.mit.edu	37	chr2	121047166	121047166	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacaccttagggaacagattCtccgtgtgaaggctgaagaa	11	8	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:121047166C>A	uc002tmk.2	+	4	524	c.334C>A	c.(334-336)CTC>ATC	p.L112I	RALB_uc010yys.1_Missense_Mutation_p.L134I|RALB_uc002tml.2_Missense_Mutation_p.L133I|RALB_uc002tmm.2_RNA|RALB_uc010yyt.1_RNA	NM_002881	NP_002872	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	112					apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding			lung(3)	3		Prostate(154;0.122)				GGAACAGATTCTCCGTGTGAA	0.463													A	121047166	C	A	121047166	3	1	104	1	0	0	0	0	1	0	0	0	13011	913	32	5	344	5	RALB	2	121047166	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3515	121047166	122152207	1013	67627											
GLI2	2736	broad.mit.edu	37	chr2	121740439	121740439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accgcgccaagcaccagaatCgcacccactccaacgaggta	8	17	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:121740439C>T	uc010flp.2	+	10	1696	c.1666C>T	c.(1666-1668)CGC>TGC	p.R556C	GLI2_uc002tmq.1_Missense_Mutation_p.R228C|GLI2_uc002tmr.1_Missense_Mutation_p.R211C|GLI2_uc002tmt.3_Missense_Mutation_p.R228C|GLI2_uc002tmu.3_Missense_Mutation_p.R211C|GLI2_uc002tmw.1_Missense_Mutation_p.R539C	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	556	C2H2-type 4.				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				GCACCAGAATCGCACCCACTC	0.627													T	121740439	C	T	121740439	3	4	104	1	0	0	0	0	1	0	0	0	6438	884	31	1	1704	1	GLI2	2	121740439	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	693273	121740439	121458934	1014	67628											
CLASP1	23332	broad.mit.edu	37	chr2	122273287	122273287	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagatctgccctcacacgttCtcctacatgtctgtaaattt	6	12	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:122273287C>T	uc002tnc.2	-	7	988	c.598G>A	c.(598-600)GAA>AAA	p.E200K	CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.E200K|CLASP1_uc010yza.1_Missense_Mutation_p.E200K|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_Intron|CLASP1_uc002tng.1_Missense_Mutation_p.E200K	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	200	HEAT 2.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)					CTCACACGTTCTCCTACATGT	0.473													T	122273287	C	T	122273287	3	4	104	1	0	0	0	0	1	0	0	0	3454	922	32	4	4206	4	CLASP1	2	122273287	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	532848	122273287	120926086	1015	67629											
CLASP1	23332	broad.mit.edu	37	chr2	122273335	122273335	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgtttattgctgcatctcGaacctagatataaaagaaga	8	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:122273335G>A	uc002tnc.2	-	7	940	c.550C>T	c.(550-552)CGA>TGA	p.R184*	CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Nonsense_Mutation_p.R184*|CLASP1_uc010yza.1_Nonsense_Mutation_p.R184*|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_Intron|CLASP1_uc002tng.1_Nonsense_Mutation_p.R184*	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	184	HEAT 2.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)					GCTGCATCTCGAACCTAGATA	0.463													A	122273335	G	A	122273335	4	1	104	1	0	0	0	0	0	1	0	0	3454	1066	37	1	4254	1	CLASP1	2	122273335	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	48	122273335	120926038	1016	67630											
CNTNAP5	129684	broad.mit.edu	37	chr2	125204342	125204342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcacaggtgacagcaaagCgcggctcagcagcagcttgc	12	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:125204342C>T	uc002tno.2	+	6	1110	c.746C>T	c.(745-747)GCG>GTG	p.A249V	CNTNAP5_uc010flu.2_Missense_Mutation_p.A249V	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	249	Laminin G-like 1.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		GACAGCAAAGCGCGGCTCAGC	0.582													T	125204342	C	T	125204342	3	4	104	1	0	0	0	0	1	0	0	0	3650	768	27	1	768	1	CNTNAP5	2	125204342	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2931007	125204342	117995031	1017	67631											
CYP27C1	339761	broad.mit.edu	37	chr2	127953001	127953001	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcccctaaattcttcacaAtctcccggtacaccgtctgc	4	16	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:127953001A>G	uc002tod.2	-	5	760	c.629T>C	c.(628-630)ATT>ACT	p.I210T		NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C,	210						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		ATTCTTCACAATCTCCCGGTA	0.532													G	127953001	A	G	127953001	3	3	104	1	0	0	0	0	1	0	0	0	4160	101	4	3	505	3	CYP27C1	2	127953001	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2748659	127953001	115246372	1018	67632											
ERCC3	2071	broad.mit.edu	37	chr2	128028934	128028934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttagctcgaagcacccgCcctagcctttgggcttcctg	9	14	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:128028934C>T	uc002toh.1	-	12	2018	c.1923G>A	c.(1921-1923)GGG>GGA	p.G641G	ERCC3_uc002toe.1_Silent_p.G396G|ERCC3_uc002tof.1_Silent_p.G577G|ERCC3_uc002tog.1_Silent_p.G577G	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	641	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GAAGCACCCGCCCTAGCCTTT	0.502			Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				T	128028934	C	T	128028934	2	4	104	1	0	0	0	0	0	0	0	1	5214	726	26	2		2	ERCC3	2	128028934	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	75933	128028934	115170439	1019	67633											
ERCC3	2071	broad.mit.edu	37	chr2	128051178	128051178	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatccactttggtgcctgActcatccacctgcttccccg	6	17	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:128051178A>G	uc002toh.1	-	2	240	c.145T>C	c.(145-147)TCA>CCA	p.S49P	ERCC3_uc002toe.1_5'Flank|ERCC3_uc002tof.1_5'UTR|ERCC3_uc002tog.1_5'UTR|ERCC3_uc010flx.1_5'UTR|ERCC3_uc010yzh.1_RNA|ERCC3_uc010fly.2_Missense_Mutation_p.S49P	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	49					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TTGGTGCCTGACTCATCCACC	0.602			Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				G	128051178	A	G	128051178	3	3	104	1	0	0	0	0	1	0	0	0	5214	275	10	3	2259	3	ERCC3	2	128051178	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	22244	128051178	115148195	1020	67634											
MAP3K2	10746	broad.mit.edu	37	chr2	128079820	128079820	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttctagctcttggaaaagTtttacgacctaaaaaatgaa	6	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:128079820T>G	uc002toj.1	-	11	912	c.847A>C	c.(847-849)ACT>CCT	p.T283P		NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase	283					activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		CTTGGAAAAGTTTTACGACCT	0.338													G	128079820	T	G	128079820	3	3	104	1	0	0	0	0	1	0	0	0	9250	1725	60	5	1036	5	MAP3K2	2	128079820	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	28642	128079820	115119553	1021	67635											
MYO7B	4648	broad.mit.edu	37	chr2	128346073	128346073	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcaacttggagttagcagaGaccaagctgggccatgggac	13	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:128346073G>T	uc002top.2	+	15	1850	c.1797G>T	c.(1795-1797)GAG>GAT	p.E599D		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	599	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGTTAGCAGAGACCAAGCTGG	0.547													T	128346073	G	T	128346073	3	4	104	1	0	0	0	0	1	0	0	0	10083	933	33	5	1851	5	MYO7B	2	128346073	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	266253	128346073	114853300	1022	67636											
WDR33	55339	broad.mit.edu	37	chr2	128464123	128464123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcaggtcctgggccccctCggcctgaaacaaagaaaatt	11	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:128464123C>T	uc002tpg.1	-	22	3968	c.3785G>A	c.(3784-3786)CGA>CAA	p.R1262Q		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	1262					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGGGCCCCCTCGGCCTGAAAC	0.488													T	128464123	C	T	128464123	3	4	104	1	0	0	0	0	1	0	0	0	17284	884	31	1	229	1	WDR33	2	128464123	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	118050	128464123	114735250	1023	67637											
WDR33	55339	broad.mit.edu	37	chr2	128471562	128471562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcctctctgacatcgggCccatgtgatggtttggaggg	15	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:128471562C>T	uc002tpg.1	-	18	3086	c.2903G>A	c.(2902-2904)GGC>GAC	p.G968D		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	968					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGACATCGGGCCCATGTGATG	0.602													T	128471562	C	T	128471562	3	4	104	1	0	0	0	0	1	0	0	0	17284	739	26	2	1127	2	WDR33	2	128471562	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7439	128471562	114727811	1024	67638											
UGGT1	56886	broad.mit.edu	37	chr2	128878797	128878797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtttccagactgctgctcGaatcttggcttctcctgttg	9	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:128878797G>A	uc002tps.2	+	10	1176	c.998G>A	c.(997-999)CGA>CAA	p.R333Q	UGGT1_uc010fme.1_Missense_Mutation_p.R208Q|UGGT1_uc002tpr.2_Missense_Mutation_p.R309Q	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	333					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1						ACTGCTGCTCGAATCTTGGCT	0.373													A	128878797	G	A	128878797	3	1	104	1	0	0	0	0	1	0	0	0	16938	1058	37	1	1036	1	UGGT1	2	128878797	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	407235	128878797	114320576	1025	67639											
UGGT1	56886	broad.mit.edu	37	chr2	128914829	128914829	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttgtttttctacagatgAttcttttattaggccagtaa	6	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:128914829A>C	uc002tps.2	+	22	2442	c.2264A>C	c.(2263-2265)GAT>GCT	p.D755A	UGGT1_uc010fme.1_Missense_Mutation_p.D630A|UGGT1_uc002tpr.2_Missense_Mutation_p.D731A	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	755					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1						TCTACAGATGATTCTTTTATT	0.363													C	128914829	A	C	128914829	3	2	104	1	0	0	0	0	1	0	0	0	16938	333	12	5	2350	5	UGGT1	2	128914829	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	36032	128914829	114284544	1026	67640											
POTEF	728378	broad.mit.edu	37	chr2	130832596	130832596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgatctgggtcatcttctCgcggttggccttagggttca	12	10	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:130832596C>T	uc010fmh.2	-	17	2849	c.2449G>A	c.(2449-2451)GAG>AAG	p.E817K		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	817	Actin-like.					cell cortex	ATP binding			skin(3)|ovary(2)	5						GTCATCTTCTCGCGGTTGGCC	0.597													T	130832596	C	T	130832596	3	4	104	1	0	0	0	0	1	0	0	0	12265	893	31	1	782	1	POTEF	2	130832596	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1917767	130832596	112366777	1027	67641											
GPR148	344561	broad.mit.edu	37	chr2	131487111	131487111	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attctcactgatgctgtcttCgccgcctgcaccagcaccat	7	16	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:131487111C>T	uc002trv.1	+	1	389	c.387C>T	c.(385-387)TTC>TTT	p.F129F		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	129	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1	Colorectal(110;0.1)					ATGCTGTCTTCGCCGCCTGCA	0.602													T	131487111	C	T	131487111	2	4	104	1	0	0	0	0	0	0	0	1	6653	883	31	1		1	GPR148	2	131487111	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	654515	131487111	111712262	1028	67642											
FAM123C	205147	broad.mit.edu	37	chr2	131521511	131521511	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggagtctgcagccacttcGacaacagatacttccggtaa	9	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:131521511G>A	uc002trw.2	+	2	2056	c.1866G>A	c.(1864-1866)TCG>TCA	p.S622S	FAM123C_uc010fmv.2_Silent_p.S622S|FAM123C_uc010fms.1_Silent_p.S622S|FAM123C_uc010fmt.1_Silent_p.S622S|FAM123C_uc010fmu.1_Silent_p.S622S	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	622										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CAGCCACTTCGACAACAGATA	0.572													A	131521511	G	A	131521511	2	1	104	1	0	0	0	0	0	0	0	1	5424	1045	37	1		1	FAM123C	2	131521511	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	34400	131521511	111677862	1029	67643											
ARHGEF4	50649	broad.mit.edu	37	chr2	131796522	131796522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaaagctggggacgtcatcGaagtgatggatgccaccaac	12	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:131796522G>A	uc002tsa.1	+	6	1184	c.664G>A	c.(664-666)GAA>AAA	p.E222K	ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.E222K|ARHGEF4_uc010fmx.1_Missense_Mutation_p.E222K|ARHGEF4_uc002tsc.1_5'Flank	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	222	SH3.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GGACGTCATCGAAGTGATGGA	0.617													A	131796522	G	A	131796522	3	1	104	1	0	0	0	0	1	0	0	0	908	1059	37	1	678	1	ARHGEF4	2	131796522	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	275011	131796522	111402851	1030	67644											
ARHGEF4	50649	broad.mit.edu	37	chr2	131801887	131801887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcaggacctgctccgccgcGacgtgttgtactacaagggc	14	13	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:131801887G>A	uc002tsa.1	+	12	2135	c.1615G>A	c.(1615-1617)GAC>AAC	p.D539N	ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.D539N|ARHGEF4_uc010fmx.1_Missense_Mutation_p.D479N|ARHGEF4_uc002tsc.1_Missense_Mutation_p.D82N	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	539	PH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GCTCCGCCGCGACGTGTTGTA	0.637													A	131801887	G	A	131801887	3	1	104	1	0	0	0	0	1	0	0	0	908	1058	37	1	1653	1	ARHGEF4	2	131801887	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5365	131801887	111397486	1031	67645											
NCKAP5	344148	broad.mit.edu	37	chr2	133489398	133489398	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtggaatgaacaatggcGctatctgcagggcgctggcc	15	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:133489398G>A	uc002ttp.2	-	17	5729	c.5355C>T	c.(5353-5355)AGC>AGT	p.S1785S	NCKAP5_uc002ttq.2_Silent_p.S466S	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1785							protein binding				0						GAACAATGGCGCTATCTGCAG	0.567													A	133489398	G	A	133489398	2	1	104	1	0	0	0	0	0	0	0	1	10223	1078	38	1		1	NCKAP5	2	133489398	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1687511	133489398	109709975	1032	67646											
NCKAP5	344148	broad.mit.edu	37	chr2	133539768	133539768	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtttccaaaccccaagActtttgcatctttcttttct	4	12	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:133539768A>C	uc002ttp.2	-	14	4990	c.4616T>G	c.(4615-4617)GTC>GGC	p.V1539G	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1539							protein binding				0						AAACCCCAAGACTTTTGCATC	0.398													C	133539768	A	C	133539768	3	2	104	1	0	0	0	0	1	0	0	0	10223	275	10	5	1141	5	NCKAP5	2	133539768	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	50370	133539768	109659605	1033	67647											
MGAT5	4249	broad.mit.edu	37	chr2	135107416	135107416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attcatttggtactgaacccGaatttaatcatgcaaattat	5	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:135107416G>A	uc002ttv.1	+	9	1298	c.1153G>A	c.(1153-1155)GAA>AAA	p.E385K		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	385	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TACTGAACCCGAATTTAATCA	0.423													A	135107416	G	A	135107416	3	1	104	1	0	0	0	0	1	0	0	0	9548	1059	37	1	1187	1	MGAT5	2	135107416	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1567648	135107416	108091957	1034	67648											
ACMSD	130013	broad.mit.edu	37	chr2	135616864	135616864	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaaagatgggaaagtcTtcagagtggtgcgagagaat	15	3	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:135616864T>G	uc002ttz.2	+	3	203	c.136T>G	c.(136-138)TTC>GTC	p.F46V	ACMSD_uc002tua.2_Silent_p.S4S	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	46					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.115)		TGGGAAAGTCTTCAGAGTGGT	0.433													G	135616864	T	G	135616864	3	3	104	1	0	0	0	0	1	0	0	0	144	1609	56	5	146	5	ACMSD	2	135616864	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	509448	135616864	107582509	1035	67649											
YSK4	80122	broad.mit.edu	37	chr2	135738478	135738478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctcggtgtgctccgatgTaaaacatggcggccatcctg	12	13	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:135738478T>C	uc002tue.1	-	9	3864	c.3833A>G	c.(3832-3834)TAC>TGC	p.Y1278C	YSK4_uc002tuf.1_Missense_Mutation_p.Y460C|YSK4_uc010fnc.1_Missense_Mutation_p.Y412C|YSK4_uc010fnd.1_Missense_Mutation_p.Y1165C|YSK4_uc010zbg.1_Missense_Mutation_p.Y410C|YSK4_uc002tuh.3_Missense_Mutation_p.Y1006C|YSK4_uc002tui.3_3'UTR	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	1278	Protein kinase.						ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)		TGCTCCGATGTAAAACATGGC	0.512													C	135738478	T	C	135738478	3	2	104	1	0	0	0	0	1	0	0	0	17492	1638	57	3	161	3	YSK4	2	135738478	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	121614	135738478	107460895	1036	67650											
YSK4	80122	broad.mit.edu	37	chr2	135741299	135741299	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttggtccataggataggttCttcagactttaaactatttt	7	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:135741299C>A	uc002tue.1	-	8	3200	c.3169G>T	c.(3169-3171)GAA>TAA	p.E1057*	YSK4_uc002tuf.1_Nonsense_Mutation_p.E239*|YSK4_uc010fnc.1_Nonsense_Mutation_p.E239*|YSK4_uc010fnd.1_Nonsense_Mutation_p.E944*|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Nonsense_Mutation_p.E785*|YSK4_uc002tui.3_Nonsense_Mutation_p.E1074*	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	1057							ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)		AGGATAGGTTCTTCAGACTTT	0.378													A	135741299	C	A	135741299	4	1	104	1	0	0	0	0	0	1	0	0	17492	922	32	5	829	5	YSK4	2	135741299	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2821	135741299	107458074	1037	67651											
YSK4	80122	broad.mit.edu	37	chr2	135756376	135756376	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttacagacttggaaatgTtcagttctaaacaagatctt	8	6	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:135756376T>C	uc002tue.1	-	5	537	c.506A>G	c.(505-507)AAC>AGC	p.N169S	YSK4_uc010fne.1_Missense_Mutation_p.N141S|YSK4_uc002tuf.1_Missense_Mutation_p.N169S|YSK4_uc010fnc.1_Missense_Mutation_p.N169S|YSK4_uc010fnd.1_Intron|YSK4_uc010zbg.1_Missense_Mutation_p.N169S|YSK4_uc002tui.3_Missense_Mutation_p.N186S	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	169							ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTTGGAAATGTTCAGTTCTAA	0.428													C	135756376	T	C	135756376	3	2	104	1	0	0	0	0	1	0	0	0	17492	1725	60	3	3504	3	YSK4	2	135756376	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	15077	135756376	107442997	1038	67652											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135815651	135815651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actctttgggaaagccactcGaaaaggtcagatctatttgc	9	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:135815651G>A	uc002tuj.2	+	3	170	c.145G>A	c.(145-147)GAA>AAA	p.E49K	RAB3GAP1_uc010fnf.2_Missense_Mutation_p.E49K|RAB3GAP1_uc010fng.2_5'UTR	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	49						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAAGCCACTCGAAAAGGTCAG	0.373													A	135815651	G	A	135815651	3	1	104	1	0	0	0	0	1	0	0	0	12935	1059	37	1	155	1	RAB3GAP1	2	135815651	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	59275	135815651	107383722	1039	67653											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135878432	135878432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccagttagtattgctattcGatttacctatgtacttcaag	6	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:135878432G>A	uc002tuj.2	+	8	717	c.692G>A	c.(691-693)CGA>CAA	p.R231Q	RAB3GAP1_uc010fnf.2_Missense_Mutation_p.R231Q|RAB3GAP1_uc010fng.2_Missense_Mutation_p.R56Q|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	231						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)		ATTGCTATTCGATTTACCTAT	0.368													A	135878432	G	A	135878432	3	1	104	1	0	0	0	0	1	0	0	0	12935	1058	37	1	722	1	RAB3GAP1	2	135878432	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	62781	135878432	107320941	1040	67654											
R3HDM1	23518	broad.mit.edu	37	chr2	136362556	136362556	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attttggtagagaagaatgaAcattgtattgagaacaatat	9	2	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:136362556A>G	uc002tuo.2	+	3	511	c.141A>G	c.(139-141)GAA>GAG	p.E47E	R3HDM1_uc010fni.2_Silent_p.E45E|R3HDM1_uc002tup.2_Intron	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	47							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		AGAAGAATGAACATTGTATTG	0.299													G	136362556	A	G	136362556	2	3	104	1	0	0	0	0	0	0	0	1	12887	40	2	3		3	R3HDM1	2	136362556	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	484124	136362556	106836817	1041	67655											
R3HDM1	23518	broad.mit.edu	37	chr2	136393692	136393692	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagatgacagaagaagcaAatctatagaagaaagagaag	11	3	1	7			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:136393692A>C	uc002tuo.2	+	11	1212	c.842A>C	c.(841-843)AAA>ACA	p.K281T	R3HDM1_uc010fni.2_Missense_Mutation_p.K279T|R3HDM1_uc002tup.2_Missense_Mutation_p.K225T|R3HDM1_uc010zbh.1_Missense_Mutation_p.K113T	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	281							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		AGAAGAAGCAAATCTATAGAA	0.353													C	136393692	A	C	136393692	3	2	104	1	0	0	0	0	1	0	0	0	12887	14	1	5	876	5	R3HDM1	2	136393692	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	31136	136393692	106805681	1042	67656											
THSD7B	80731	broad.mit.edu	37	chr2	137814328	137814328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggttgcaaatgaaatatgcGaacactttgcccttcagcct	8	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:137814328G>A	uc002tva.1	+	2	385	c.385G>A	c.(385-387)GAA>AAA	p.E129K	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.E19K	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGAAATATGCGAACACTTTGC	0.517													A	137814328	G	A	137814328	3	1	104	1	0	0	0	0	1	0	0	0	15877	1059	37	1	391	1	THSD7B	2	137814328	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1420636	137814328	105385045	1043	67657											
THSD7B	80731	broad.mit.edu	37	chr2	137988724	137988724	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtggacggagtggtcaTcctgttcccagtcctgttca	13	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:137988724T>C	uc002tva.1	+	7	1741	c.1741T>C	c.(1741-1743)TCC>CCC	p.S581P	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.S471P	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGAGTGGTCATCCTGTTCCCA	0.512													C	137988724	T	C	137988724	3	2	104	1	0	0	0	0	1	0	0	0	15877	1435	50	3	1767	3	THSD7B	2	137988724	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	174396	137988724	105210649	1044	67658											
THSD7B	80731	broad.mit.edu	37	chr2	138400060	138400060	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcccttatcattttaggtCgaatgagccggactcgattt	8	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:138400060C>T	uc002tva.1	+	20	3715	c.3715C>T	c.(3715-3717)CGA>TGA	p.R1239*	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		CATTTTAGGTCGAATGAGCCG	0.473													T	138400060	C	T	138400060	4	4	104	1	0	0	0	0	0	1	0	0	15877	876	31	1	3792	1	THSD7B	2	138400060	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	411336	138400060	104799313	1045	67659											
SPOPL	339745	broad.mit.edu	37	chr2	139316695	139316695	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatttaggtaatctctgggAaaacacaagatttacagact	8	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:139316695A>G	uc002tvh.2	+	6	984	c.584A>G	c.(583-585)GAA>GGA	p.E195G		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	195						nucleus				skin(2)|breast(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0296)		AATCTCTGGGAAAACACAAGA	0.373													G	139316695	A	G	139316695	3	3	104	1	0	0	0	0	1	0	0	0	15084	246	9	3	602	3	SPOPL	2	139316695	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	916635	139316695	103882678	1046	67660											
LRP1B	53353	broad.mit.edu	37	chr2	141027830	141027830	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagacacacaggtacatttgTctcggggtccagctggcatg	12	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:141027830T>C	uc002tvj.1	-	86	14200	c.13228A>G	c.(13228-13230)ACA>GCA	p.T4410A		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4410	Extracellular (Potential).|EGF-like 14.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGTACATTTGTCTCGGGGTCC	0.413										TSP Lung(27;0.18)			C	141027830	T	C	141027830	3	2	104	1	0	0	0	0	1	0	0	0	8955	1667	58	3	595	3	LRP1B	2	141027830	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1711135	141027830	102171543	1047	67661											
LRP1B	53353	broad.mit.edu	37	chr2	141108514	141108514	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgaattatgttcaatatgaGaaatttgttgatgatcgcca	8	4	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:141108514G>T	uc002tvj.1	-	77	12716	c.11744C>A	c.(11743-11745)TCT>TAT	p.S3915Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3915	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCAATATGAGAAATTTGTTG	0.348										TSP Lung(27;0.18)			T	141108514	G	T	141108514	3	4	104	1	0	0	0	0	1	0	0	0	8955	942	33	5	2115	5	LRP1B	2	141108514	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	80684	141108514	102090859	1048	67662											
LRP1B	53353	broad.mit.edu	37	chr2	141128375	141128375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgggctttatttttgcaccGaaactgatcttccttacatt	7	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:141128375G>A	uc002tvj.1	-	71	11884	c.10912C>T	c.(10912-10914)CGG>TGG	p.R3638W		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3638	Extracellular (Potential).|LDL-receptor class A 29.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTTGCACCGAAACTGATCT	0.383										TSP Lung(27;0.18)			A	141128375	G	A	141128375	3	1	104	1	0	0	0	0	1	0	0	0	8955	1057	37	1	2971	1	LRP1B	2	141128375	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	19861	141128375	102070998	1049	67663											
LRP1B	53353	broad.mit.edu	37	chr2	141143550	141143550	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagttgttgtttttacactgGaattcatgaggtccacaagt	9	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:141143550G>A	uc002tvj.1	-	67	11415	c.10443C>T	c.(10441-10443)TTC>TTT	p.F3481F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3481	Extracellular (Potential).|LDL-receptor class A 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTACACTGGAATTCATGAG	0.403										TSP Lung(27;0.18)			A	141143550	G	A	141143550	2	1	104	1	0	0	0	0	0	0	0	1	8955	1165	41	4		4	LRP1B	2	141143550	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	15175	141143550	102055823	1050	67664											
LRP1B	53353	broad.mit.edu	37	chr2	141201904	141201904	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgaggtgacttacgacagTctctttcatcttcctcatca	6	11	5	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:141201904T>C	uc002tvj.1	-	65	11261	c.10289A>G	c.(10288-10290)GAC>GGC	p.D3430G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3430	Extracellular (Potential).|LDL-receptor class A 23.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTACGACAGTCTCTTTCATC	0.348										TSP Lung(27;0.18)			C	141201904	T	C	141201904	3	2	104	1	0	0	0	0	1	0	0	0	8955	1667	58	3	3618	3	LRP1B	2	141201904	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	58354	141201904	101997469	1051	67665											
LRP1B	53353	broad.mit.edu	37	chr2	141245224	141245224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaacacattctatttatgcGactgccattgggtcggctag	9	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:141245224G>A	uc002tvj.1	-	58	10177	c.9205C>T	c.(9205-9207)CGC>TGC	p.R3069C		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3069	Extracellular (Potential).|LDL-receptor class B 28.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTATTTATGCGACTGCCATTG	0.308										TSP Lung(27;0.18)			A	141245224	G	A	141245224	3	1	104	1	0	0	0	0	1	0	0	0	8955	1058	37	1	4730	1	LRP1B	2	141245224	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	43320	141245224	101954149	1052	67666											
LRP1B	53353	broad.mit.edu	37	chr2	141291621	141291621	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattcatcagagttgtctccGcagtcattttctccatcaca	5	12	6	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:141291621G>A	uc002tvj.1	-	47	8703	c.7731C>T	c.(7729-7731)TGC>TGT	p.C2577C		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2577	Extracellular (Potential).|LDL-receptor class A 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTTGTCTCCGCAGTCATTTT	0.388										TSP Lung(27;0.18)			A	141291621	G	A	141291621	2	1	104	1	0	0	0	0	0	0	0	1	8955	1079	38	1		1	LRP1B	2	141291621	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	46397	141291621	101907752	1053	67667											
LRP1B	53353	broad.mit.edu	37	chr2	141460006	141460006	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaacagacctcatagtcgAtggagatgccattcggccat	9	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:141460006A>G	uc002tvj.1	-	38	7112	c.6140T>C	c.(6139-6141)ATC>ACC	p.I2047T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2047	Extracellular (Potential).|LDL-receptor class B 21.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTCATAGTCGATGGAGATGCC	0.398										TSP Lung(27;0.18)			G	141460006	A	G	141460006	3	3	104	1	0	0	0	0	1	0	0	0	8955	333	12	3	7875	3	LRP1B	2	141460006	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	168385	141460006	101739367	1054	67668											
LRP1B	53353	broad.mit.edu	37	chr2	141747168	141747168	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctccatcacaaagccatctCttggggatgcagcgattatt	9	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:141747168C>A	uc002tvj.1	-	17	3675	c.2703G>T	c.(2701-2703)AAG>AAT	p.K901N	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	901	Extracellular (Potential).|LDL-receptor class A 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAAGCCATCTCTTGGGGATGC	0.413										TSP Lung(27;0.18)			A	141747168	C	A	141747168	3	1	104	1	0	0	0	0	1	0	0	0	8955	912	32	5	11396	5	LRP1B	2	141747168	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	287162	141747168	101452205	1055	67669											
LRP1B	53353	broad.mit.edu	37	chr2	141762987	141762987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggatagccaagcaaagtGtactacagcccccattattt	8	11	0	0	rs139524624		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:141762987G>A	uc002tvj.1	-	15	3392	c.2420C>T	c.(2419-2421)ACA>ATA	p.T807I	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	807	Extracellular (Potential).|EGF-like 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAAGCAAAGTGTACTACAGCC	0.448										TSP Lung(27;0.18)			A	141762987	G	A	141762987	3	1	104	1	0	0	0	0	1	0	0	0	8955	1377	48	4	11687	4	LRP1B	2	141762987	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	15819	141762987	101436386	1056	67670											
LRP1B	53353	broad.mit.edu	37	chr2	141773306	141773306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatactttttcaatatgatCgtaataggcatcacaccagt	5	8	2	1	rs143197572	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:141773306C>T	uc002tvj.1	-	13	3121	c.2149G>A	c.(2149-2151)GAT>AAT	p.D717N	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	717	Extracellular (Potential).|LDL-receptor class B 8.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCAATATGATCGTAATAGGCA	0.388										TSP Lung(27;0.18)			T	141773306	C	T	141773306	3	4	104	1	0	0	0	0	1	0	0	0	8955	884	31	1	11966	1	LRP1B	2	141773306	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	10319	141773306	101426067	1057	67671											
LRP1B	53353	broad.mit.edu	37	chr2	141812693	141812693	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttaacaacatacttttgcatGacctgccatcacttcccaag	4	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:141812693G>T	uc002tvj.1	-	10	2516	c.1544C>A	c.(1543-1545)TCA>TAA	p.S515*	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	515	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTTTTGCATGACCTGCCATC	0.423										TSP Lung(27;0.18)			T	141812693	G	T	141812693	4	4	104	1	0	0	0	0	0	1	0	0	8955	1294	45	5	12583	5	LRP1B	2	141812693	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	39387	141812693	101386680	1058	67672											
LRP1B	53353	broad.mit.edu	37	chr2	141816481	141816481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagttcttttttgataaattCggattccccaagcattctca	6	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:141816481C>T	uc002tvj.1	-	9	2351	c.1379G>A	c.(1378-1380)CGA>CAA	p.R460Q	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	460	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGATAAATTCGGATTCCCCA	0.343										TSP Lung(27;0.18)			T	141816481	C	T	141816481	3	4	104	1	0	0	0	0	1	0	0	0	8955	884	31	1	12752	1	LRP1B	2	141816481	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3788	141816481	101382892	1059	67673											
LRP1B	53353	broad.mit.edu	37	chr2	141819833	141819833	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acattcccgtagtcagtaaaGaaaagttttctgttgaaaga	8	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:141819833G>T	uc002tvj.1	-	8	1995	c.1023C>A	c.(1021-1023)TTC>TTA	p.F341L	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	341	Extracellular (Potential).|LDL-receptor class B 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTCAGTAAAGAAAAGTTTTC	0.428										TSP Lung(27;0.18)			T	141819833	G	T	141819833	3	4	104	1	0	0	0	0	1	0	0	0	8955	933	33	5	13112	5	LRP1B	2	141819833	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3352	141819833	101379540	1060	67674											
LRP1B	53353	broad.mit.edu	37	chr2	141946119	141946119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtccacaaaatagagatttCgagtgagccagtcaatcgcc	10	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:141946119C>T	uc002tvj.1	-	7	1856	c.884G>A	c.(883-885)CGA>CAA	p.R295Q	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	295	Extracellular (Potential).|LDL-receptor class B 2.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATAGAGATTTCGAGTGAGCCA	0.408										TSP Lung(27;0.18)			T	141946119	C	T	141946119	3	4	104	1	0	0	0	0	1	0	0	0	8955	884	31	1	13255	1	LRP1B	2	141946119	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	126286	141946119	101253254	1061	67675											
KYNU	8942	broad.mit.edu	37	chr2	143676232	143676232	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catctatttcttgggaaattCtcttggccttcaaccaaaaa	5	10	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:143676232C>A	uc002tvl.2	+	3	354	c.224C>A	c.(223-225)TCT>TAT	p.S75Y	KYNU_uc002tvk.2_Missense_Mutation_p.S75Y|KYNU_uc010fnm.2_Missense_Mutation_p.S75Y	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	75					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TTGGGAAATTCTCTTGGCCTT	0.279													A	143676232	C	A	143676232	3	1	104	1	0	0	0	0	1	0	0	0	8587	913	32	5	230	5	KYNU	2	143676232	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1730113	143676232	99523141	1062	67676											
ARHGAP15	55843	broad.mit.edu	37	chr2	143959745	143959745	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attcacagcatatcttgaaaGatgtcattcctccattggaa	6	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:143959745G>T	uc002tvm.3	+	3	359	c.208G>T	c.(208-210)GAT>TAT	p.D70Y	ARHGAP15_uc010zbl.1_Missense_Mutation_p.D70Y	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	70					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)		TATCTTGAAAGATGTCATTCC	0.229													T	143959745	G	T	143959745	3	4	104	1	0	0	0	0	1	0	0	0	866	942	33	5	214	5	ARHGAP15	2	143959745	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	283513	143959745	99239628	1063	67677											
GTDC1	79712	broad.mit.edu	37	chr2	144899590	144899590	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgattccatattaaaaActgagttgaatacaaccaca	5	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:144899590A>G	uc002tvp.2	-	6	659	c.380T>C	c.(379-381)GTT>GCT	p.V127A	GTDC1_uc002tvo.2_Missense_Mutation_p.V127A|GTDC1_uc002tvq.2_Missense_Mutation_p.V127A|GTDC1_uc002tvr.2_Missense_Mutation_p.V127A|GTDC1_uc010fnn.2_Missense_Mutation_p.V127A|GTDC1_uc002tvs.2_Missense_Mutation_p.V95A|GTDC1_uc010fno.2_5'UTR|GTDC1_uc002tvt.1_Missense_Mutation_p.V127A	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	127					biosynthetic process		transferase activity, transferring glycosyl groups			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CATATTAAAAACTGAGTTGAA	0.393													G	144899590	A	G	144899590	3	3	104	1	0	0	0	0	1	0	0	0	6851	43	2	3	1024	3	GTDC1	2	144899590	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	939845	144899590	98299783	1064	67678											
ZEB2	9839	broad.mit.edu	37	chr2	145147102	145147102	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaactatcgtccatggagtgAtctccagtctcttcttcatc	7	12	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:145147102A>G	uc002tvu.2	-	10	4041	c.3561T>C	c.(3559-3561)GAT>GAC	p.D1187D	ZEB2_uc002tvv.2_Silent_p.D1181D|ZEB2_uc010zbm.1_Silent_p.D1158D|ZEB2_uc010fnp.2_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	1187	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCATGGAGTGATCTCCAGTCT	0.438													G	145147102	A	G	145147102	2	3	104	1	0	0	0	0	0	0	0	1	17621	330	12	3		3	ZEB2	2	145147102	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	247512	145147102	98052271	1065	67679											
MBD5	55777	broad.mit.edu	37	chr2	149216265	149216265	+	Translation_Start_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttttgaaggccatcatgctCtgtaatataaggatatcatc	7	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:149216265C>A	uc002twm.3	+	6	926	c.-62C>A	c.(-64--60)CTCTG>CTATG		MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Translation_Start_Site	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5							chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCATCATGCTCTGTAATATAA	0.458													A	149216265	C	A	149216265	1	1	104	1	0	0	0	0	0	0	0	0	9347	928	32	5		5	MBD5	2	149216265	Translation_Start_Site	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4069163	149216265	93983108	1066	67680											
MBD5	55777	broad.mit.edu	37	chr2	149247655	149247655	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccaatactgttaccaccaaGaaactgtccaggggataaaa	7	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:149247655G>T	uc002twm.3	+	12	4743	c.3755G>T	c.(3754-3756)AGA>ATA	p.R1252I	MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.R1252I|MBD5_uc002two.2_Missense_Mutation_p.R510I|MBD5_uc002twp.2_Missense_Mutation_p.R302I	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1252						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TTACCACCAAGAAACTGTCCA	0.423													T	149247655	G	T	149247655	3	4	104	1	0	0	0	0	1	0	0	0	9347	942	33	5	3781	5	MBD5	2	149247655	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	31390	149247655	93951718	1067	67681											
KIF5C	3800	broad.mit.edu	37	chr2	149840179	149840179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgagccagctacaagagCttagcaaccaccagaagaaa	9	11	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:149840179C>T	uc010zbu.1	+	15	1983	c.1615C>T	c.(1615-1617)CTT>TTT	p.L539F	KIF5C_uc002tws.1_RNA|KIF5C_uc002twt.2_Missense_Mutation_p.L91F	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	539					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)		GCTACAAGAGCTTAGCAACCA	0.418													T	149840179	C	T	149840179	3	4	104	1	0	0	0	0	1	0	0	0	8307	797	28	2	1595	2	KIF5C	2	149840179	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	592524	149840179	93359194	1068	67682											
LYPD6B	130576	broad.mit.edu	37	chr2	150061822	150061822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgctgctcctctgtcacGctctcgctatagctgttgtc	9	14	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:150061822G>A	uc002twv.1	+	4	534	c.133G>A	c.(133-135)GCT>ACT	p.A45T	LYPD6B_uc002tww.1_Missense_Mutation_p.A7T|LYPD6B_uc002twx.1_Missense_Mutation_p.A7T	NM_177964	NP_808879	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	21						anchored to membrane|plasma membrane					0						CCTCTGTCACGCTCTCGCTAT	0.453													A	150061822	G	A	150061822	3	1	104	1	0	0	0	0	1	0	0	0	9115	1087	38	1	143	1	LYPD6B	2	150061822	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	221643	150061822	93137551	1069	67683											
RND3	390	broad.mit.edu	37	chr2	151331453	151331453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcaaatcagcacagcatccGaatcagggtaagagaggggg	14	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:151331453G>A	uc002txe.2	-	3	528	c.284C>T	c.(283-285)TCG>TTG	p.S95L	RND3_uc002txf.2_Missense_Mutation_p.S95L|RND3_uc002txg.2_Missense_Mutation_p.S95L|RND3_uc010zbv.1_Missense_Mutation_p.S95L|RND3_uc010zbw.1_5'UTR	NM_005168	NP_005159	P61587	RND3_HUMAN	ras homolog gene family, member E precursor	95					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.106)		CACAGCATCCGAATCAGGGTA	0.463													A	151331453	G	A	151331453	3	1	104	1	0	0	0	0	1	0	0	0	13421	1059	37	1	462	1	RND3	2	151331453	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1269631	151331453	91867920	1070	67684											
RIF1	55183	broad.mit.edu	37	chr2	152293828	152293828	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatacacttatcactgctgtTcatgatagctttgttgcagt	7	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:152293828T>C	uc002txm.2	+	13	1576	c.1446T>C	c.(1444-1446)GTT>GTC	p.V482V	RIF1_uc002txl.2_Silent_p.V482V|RIF1_uc010fnv.1_Silent_p.V446V|RIF1_uc002txn.2_Silent_p.V482V|RIF1_uc002txo.2_Silent_p.V482V|RIF1_uc010zby.1_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	482					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCACTGCTGTTCATGATAGCT	0.333													C	152293828	T	C	152293828	2	2	104	1	0	0	0	0	0	0	0	1	13359	1770	62	3		3	RIF1	2	152293828	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	962375	152293828	90905545	1071	67685											
RIF1	55183	broad.mit.edu	37	chr2	152296636	152296636	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtatttcctgtatcaaaaAcgctggtaagtataataccc	6	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:152296636A>C	uc002txm.2	+	15	1772	c.1642A>C	c.(1642-1644)ACG>CCG	p.T548P	RIF1_uc002txl.2_Missense_Mutation_p.T548P|RIF1_uc010fnv.1_Missense_Mutation_p.T512P|RIF1_uc002txn.2_Missense_Mutation_p.T548P|RIF1_uc002txo.2_Missense_Mutation_p.T548P|RIF1_uc010zby.1_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	548					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGTATCAAAAACGCTGGTAAG	0.313													C	152296636	A	C	152296636	3	2	104	1	0	0	0	0	1	0	0	0	13359	43	2	5	1696	5	RIF1	2	152296636	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2808	152296636	90902737	1072	67686											
RIF1	55183	broad.mit.edu	37	chr2	152308139	152308139	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaatttgttgttcgtggataGaattatttatattattactg	8	2	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:152308139G>T	uc002txm.2	+	21	2394	c.2264G>T	c.(2263-2265)AGA>ATA	p.R755I	RIF1_uc002txl.2_Missense_Mutation_p.R755I|RIF1_uc010fnv.1_Missense_Mutation_p.R719I|RIF1_uc002txn.2_Missense_Mutation_p.R755I|RIF1_uc002txo.2_Missense_Mutation_p.R755I	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	755					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTCGTGGATAGAATTATTTAT	0.284													T	152308139	G	T	152308139	3	4	104	1	0	0	0	0	1	0	0	0	13359	942	33	5	2342	5	RIF1	2	152308139	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	11503	152308139	90891234	1073	67687											
RIF1	55183	broad.mit.edu	37	chr2	152320412	152320412	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agagtccattgcatataaaaGatgatgtgttacctaaacaa	7	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:152320412G>T	uc002txm.2	+	30	4508	c.4378G>T	c.(4378-4380)GAT>TAT	p.D1460Y	RIF1_uc002txl.2_Missense_Mutation_p.D1460Y|RIF1_uc002txn.2_Missense_Mutation_p.D1460Y|RIF1_uc002txo.2_Missense_Mutation_p.D1460Y|RIF1_uc002txp.2_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1460					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCATATAAAAGATGATGTGTT	0.353													T	152320412	G	T	152320412	3	4	104	1	0	0	0	0	1	0	0	0	13359	942	33	5	4492	5	RIF1	2	152320412	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	12273	152320412	90878961	1074	67688											
NEB	4703	broad.mit.edu	37	chr2	152350367	152350367	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggggttgctttccccaggttCtctttgtataacacctgtga	10	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:152350367C>A	uc010fnx.2	-	142	19217	c.19026G>T	c.(19024-19026)GAG>GAT	p.E6342D	NEB_uc002txr.2_Intron|RIF1_uc002txp.2_Intron|NEB_uc010zbz.1_Intron|NEB_uc002txq.2_Missense_Mutation_p.E221D|NEB_uc010zca.1_Missense_Mutation_p.E173D|NEB_uc010zcb.1_Intron	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	6342	Nebulin 174.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCCCCAGGTTCTCTTTGTATA	0.388													A	152350367	C	A	152350367	3	1	104	1	0	0	0	0	1	0	0	0	10302	912	32	5	1015	5	NEB	2	152350367	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	29955	152350367	90849006	1075	67689											
NEB	4703	broad.mit.edu	37	chr2	152352870	152352870	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agttcccttgcccatgttttCtttgtataacacctgtgcga	7	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:152352870C>A	uc010fnx.2	-	140	19029	c.18838G>T	c.(18838-18840)GAA>TAA	p.E6280*	NEB_uc002txr.2_Nonsense_Mutation_p.E2672*|RIF1_uc002txp.2_Intron|NEB_uc010zbz.1_Nonsense_Mutation_p.E80*|NEB_uc002txq.2_Nonsense_Mutation_p.E159*|NEB_uc010zca.1_Nonsense_Mutation_p.E111*|NEB_uc010zcb.1_Nonsense_Mutation_p.E80*	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	6280	Nebulin 172.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCCATGTTTTCTTTGTATAAC	0.408													A	152352870	C	A	152352870	4	1	104	1	0	0	0	0	0	1	0	0	10302	922	32	5	1211	5	NEB	2	152352870	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2503	152352870	90846503	1076	67690											
NEB	4703	broad.mit.edu	37	chr2	152381115	152381115	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgcaggttctctttggcatCttttctgtaagcgaccttta	8	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:152381115C>A	uc010fnx.2	-	124	17376	c.17185G>T	c.(17185-17187)GAT>TAT	p.D5729Y	NEB_uc002txr.2_Missense_Mutation_p.D2152Y|NEB_uc002txt.3_Missense_Mutation_p.D234Y	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5729	Nebulin 156.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTTTGGCATCTTTTCTGTAA	0.373													A	152381115	C	A	152381115	3	1	104	1	0	0	0	0	1	0	0	0	10302	913	32	5	3413	5	NEB	2	152381115	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	28245	152381115	90818258	1077	67691											
NEB	4703	broad.mit.edu	37	chr2	152382699	152382699	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accaggttgctgacagtcttCgccagcaggatctgaggcgt	13	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:152382699C>T	uc010fnx.2	-	121	17111	c.16920G>A	c.(16918-16920)GCG>GCA	p.A5640A	NEB_uc002txr.2_Silent_p.A2063A|NEB_uc002txt.3_Silent_p.A145A	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5640	Nebulin 154.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGACAGTCTTCGCCAGCAGGA	0.552													T	152382699	C	T	152382699	2	4	104	1	0	0	0	0	0	0	0	1	10302	871	31	1		1	NEB	2	152382699	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1584	152382699	90816674	1078	67692											
NEB	4703	broad.mit.edu	37	chr2	152411448	152411448	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcatgaccgtacttacatcGatgttaagcttgccaactcg	8	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:152411448G>A	uc010fnx.2	-	97	14513	c.14322C>T	c.(14320-14322)ATC>ATT	p.I4774I	NEB_uc002txr.2_Silent_p.I1197I	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	4774	Nebulin 130.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TACTTACATCGATGTTAAGCT	0.239													A	152411448	G	A	152411448	2	1	104	1	0	0	0	0	0	0	0	1	10302	1048	37	1		1	NEB	2	152411448	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	28749	152411448	90787925	1079	67693											
NEB	4703	broad.mit.edu	37	chr2	152432773	152432773	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgatagacactgtcacaaaaGatattctgggcgtttttgac	9	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:152432773G>T	uc010fnx.2	-	78	11888	c.11697C>A	c.(11695-11697)ATC>ATA	p.I3899I	NEB_uc002txr.2_Silent_p.I322I	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3899					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTCACAAAAGATATTCTGGG	0.478													T	152432773	G	T	152432773	2	4	104	1	0	0	0	0	0	0	0	1	10302	932	33	5		5	NEB	2	152432773	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	21325	152432773	90766600	1080	67694											
NEB	4703	broad.mit.edu	37	chr2	152466440	152466440	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgaccaaagtctgacatttCttggccagcaagatgcttaa	9	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:152466440C>A	uc010fnx.2	-	77	11675	c.11484G>T	c.(11482-11484)AAG>AAT	p.K3828N		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3828	Nebulin 105.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTGACATTTCTTGGCCAGCA	0.418													A	152466440	C	A	152466440	3	1	104	1	0	0	0	0	1	0	0	0	10302	912	32	5	13881	5	NEB	2	152466440	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	33667	152466440	90732933	1081	67695											
NEB	4703	broad.mit.edu	37	chr2	152474792	152474792	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggattgaagactcaccttAttcatgtttaaagcattgtt	8	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:152474792A>G	uc010fnx.2	-	70	10535	c.10344T>C	c.(10342-10344)AAT>AAC	p.N3448N		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3448	Nebulin 94.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GACTCACCTTATTCATGTTTA	0.358													G	152474792	A	G	152474792	2	3	104	1	0	0	0	0	0	0	0	1	10302	446	16	3		3	NEB	2	152474792	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	8352	152474792	90724581	1082	67696											
NEB	4703	broad.mit.edu	37	chr2	152476236	152476236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtactgctcgggcgccaatgTggtgacccaactgtttacga	12	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:152476236T>C	uc010fnx.2	-	69	10063	c.9872A>G	c.(9871-9873)CAC>CGC	p.H3291R		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3291					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGCGCCAATGTGGTGACCCAA	0.438													C	152476236	T	C	152476236	3	2	104	1	0	0	0	0	1	0	0	0	10302	1696	59	3	15525	3	NEB	2	152476236	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1444	152476236	90723137	1083	67697											
NEB	4703	broad.mit.edu	37	chr2	152507230	152507230	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtaccactcccaacatgTccactgggctggagaactta	8	14	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:152507230T>C	uc010fnx.2	-	53	7276	c.7085A>G	c.(7084-7086)GAC>GGC	p.D2362G		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2362	Nebulin 63.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCCCAACATGTCCACTGGGCT	0.458													C	152507230	T	C	152507230	3	2	104	1	0	0	0	0	1	0	0	0	10302	1667	58	3	19121	3	NEB	2	152507230	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	30994	152507230	90692143	1084	67698											
NEB	4703	broad.mit.edu	37	chr2	152512918	152512918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactaatttgggatcatcctCgagactgcggaaaccaacca	9	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:152512918C>T	uc010fnx.2	-	49	6435	c.6244G>A	c.(6244-6246)GAG>AAG	p.E2082K		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2082	Nebulin 55.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGATCATCCTCGAGACTGCGG	0.393													T	152512918	C	T	152512918	3	4	104	1	0	0	0	0	1	0	0	0	10302	893	31	1	19978	1	NEB	2	152512918	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5688	152512918	90686455	1085	67699											
NEB	4703	broad.mit.edu	37	chr2	152521935	152521935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcttctcggggtgctggCgatacttcttctcactaaga	10	11	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:152521935C>T	uc010fnx.2	-	42	5341	c.5150G>A	c.(5149-5151)CGC>CAC	p.R1717H		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1717	Nebulin 44.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGGTGCTGGCGATACTTCTT	0.488													T	152521935	C	T	152521935	3	4	104	1	0	0	0	0	1	0	0	0	10302	768	27	1	21100	1	NEB	2	152521935	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	9017	152521935	90677438	1086	67700											
NEB	4703	broad.mit.edu	37	chr2	152548380	152548380	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcagggcagctaacttacatCtttacactggtccagcttct	7	12	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:152548380C>A	uc010fnx.2	-	23	2400	c.2209G>T	c.(2209-2211)GAT>TAT	p.D737Y	NEB_uc010fny.1_Missense_Mutation_p.D291Y	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	737					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAACTTACATCTTTACACTGG	0.353													A	152548380	C	A	152548380	3	1	104	1	0	0	0	0	1	0	0	0	10302	913	32	5	24117	5	NEB	2	152548380	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	26445	152548380	90650993	1087	67701											
NEB	4703	broad.mit.edu	37	chr2	152563476	152563476	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcacattataatctgctttTcctttattcttttcatagtc	3	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:152563476T>G	uc010fnx.2	-	13	1262	c.1071A>C	c.(1069-1071)GGA>GGC	p.G357G	NEB_uc010fny.1_5'UTR	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	357					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		AATCTGCTTTTCCTTTATTCT	0.378													G	152563476	T	G	152563476	2	3	104	1	0	0	0	0	0	0	0	1	10302	1770	62	5		5	NEB	2	152563476	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	15096	152563476	90635897	1088	67702											
CACNB4	785	broad.mit.edu	37	chr2	152709980	152709980	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggggggcattgtgcaagTttatcagctgccaccagttg	13	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:152709980T>C	uc002tya.2	-	12	1166	c.1098A>G	c.(1096-1098)AAA>AAG	p.K366K	CACNB4_uc002txy.2_Silent_p.K332K|CACNB4_uc002txz.2_Silent_p.K348K|CACNB4_uc010fnz.2_Silent_p.K366K	NM_000726	NP_000717	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4	366					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	ATTGTGCAAGTTTATCAGCTG	0.368													C	152709980	T	C	152709980	2	2	104	1	0	0	0	0	0	0	0	1	2555	1722	60	3		3	CACNB4	2	152709980	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	146504	152709980	90489393	1089	67703											
FMNL2	114793	broad.mit.edu	37	chr2	153475668	153475668	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctcatcagacacacctgaAacaggtaagaagccttggca	8	13	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:153475668A>C	uc002tye.2	+	14	1990	c.1623A>C	c.(1621-1623)GAA>GAC	p.E541D	FMNL2_uc010fob.2_5'Flank|FMNL2_uc002tyf.2_5'Flank	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	541	Pro-rich.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3						ACACACCTGAAACAGGTAAGA	0.413													C	153475668	A	C	153475668	3	2	104	1	0	0	0	0	1	0	0	0	5952	11	1	5	1677	5	FMNL2	2	153475668	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	765688	153475668	89723705	1090	67704											
FMNL2	114793	broad.mit.edu	37	chr2	153486227	153486227	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcgtcccaaaaactcaagAaaattctggaggcaagtgca	9	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:153486227A>G	uc002tye.2	+	19	2825	c.2458A>G	c.(2458-2460)AAA>GAA	p.K820E	FMNL2_uc010fob.2_Missense_Mutation_p.K276E|FMNL2_uc002tyf.2_Missense_Mutation_p.K269E	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	820	FH2.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3						AAAACTCAAGAAAATTCTGGA	0.413													G	153486227	A	G	153486227	3	3	104	1	0	0	0	0	1	0	0	0	5952	247	9	3	2532	3	FMNL2	2	153486227	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	10559	153486227	89713146	1091	67705											
FMNL2	114793	broad.mit.edu	37	chr2	153488588	153488588	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atatatccaatgtggtgaaaGaaaaatatcaccaagtgtcc	7	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:153488588G>T	uc002tye.2	+	21	2984	c.2617G>T	c.(2617-2619)GAA>TAA	p.E873*	FMNL2_uc010fob.2_Nonsense_Mutation_p.E329*|FMNL2_uc002tyf.2_Nonsense_Mutation_p.E322*	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	873	FH2.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3						TGTGGTGAAAGAAAAATATCA	0.388													T	153488588	G	T	153488588	4	4	104	1	0	0	0	0	0	1	0	0	5952	943	33	5	2699	5	FMNL2	2	153488588	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2361	153488588	89710785	1092	67706											
PRPF40A	55660	broad.mit.edu	37	chr2	153519137	153519137	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcaagcacatgcataaaatCtttaaatattcgttttcttt	3	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:153519137C>A	uc002tyh.3	-	21	2324	c.2302G>T	c.(2302-2304)GAT>TAT	p.D768Y	PRPF40A_uc002tyg.3_Missense_Mutation_p.D224Y|PRPF40A_uc010zcd.1_Missense_Mutation_p.D719Y	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	795	FF 5.				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						TGCATAAAATCTTTAAATATT	0.269													A	153519137	C	A	153519137	3	1	104	1	0	0	0	0	1	0	0	0	12571	913	32	5	514	5	PRPF40A	2	153519137	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	30549	153519137	89680236	1093	67707											
GALNT13	114805	broad.mit.edu	37	chr2	155158056	155158056	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaacaggagactggcagaAgtttggatggatgaatttaa	12	4	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:155158056A>C	uc002tyr.3	+	9	1677	c.1110A>C	c.(1108-1110)GAA>GAC	p.E370D	GALNT13_uc002tyt.3_Missense_Mutation_p.E370D|GALNT13_uc010foc.1_Missense_Mutation_p.E189D|GALNT13_uc010fod.2_Missense_Mutation_p.E123D	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	370	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						GACTGGCAGAAGTTTGGATGG	0.393													C	155158056	A	C	155158056	3	2	104	1	0	0	0	0	1	0	0	0	6211	69	3	5	1136	5	GALNT13	2	155158056	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1638919	155158056	88041317	1094	67708											
KCNJ3	3760	broad.mit.edu	37	chr2	155555618	155555618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatcgcctacactcggggcGacctgaacaaagcccacgtc	10	15	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:155555618G>A	uc002tyv.1	+	1	526	c.331G>A	c.(331-333)GAC>AAC	p.D111N	KCNJ3_uc010zce.1_Missense_Mutation_p.D111N	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	111	Extracellular (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	CACTCGGGGCGACCTGAACAA	0.557													A	155555618	G	A	155555618	3	1	104	1	0	0	0	0	1	0	0	0	8052	1058	37	1	333	1	KCNJ3	2	155555618	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	397562	155555618	87643755	1095	67709											
GPD2	2820	broad.mit.edu	37	chr2	157427707	157427707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgatttcacgtcgtactcGcctggcctttctaaatgtcc	7	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:157427707G>A	uc002tzf.3	+	13	2030	c.1670G>A	c.(1669-1671)CGC>CAC	p.R557H	GPD2_uc010zch.1_Missense_Mutation_p.R330H|GPD2_uc002tzd.3_Missense_Mutation_p.R557H|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	557					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1						CGTCGTACTCGCCTGGCCTTT	0.433													A	157427707	G	A	157427707	3	1	104	1	0	0	0	0	1	0	0	0	6606	1087	38	1	1716	1	GPD2	2	157427707	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1872089	157427707	85771666	1096	67710											
GALNT5	11227	broad.mit.edu	37	chr2	158115201	158115201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccccggaagagtcatagtCccagcagtgacacatcaaaa	9	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:158115201C>T	uc002tzg.2	+	1	862	c.607C>T	c.(607-609)CCC>TCC	p.P203S	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	203	Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4						GAGTCATAGTCCCAGCAGTGA	0.448													T	158115201	C	T	158115201	3	4	104	1	0	0	0	0	1	0	0	0	6216	855	30	4	609	4	GALNT5	2	158115201	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	687494	158115201	85084172	1097	67711											
GALNT5	11227	broad.mit.edu	37	chr2	158142577	158142577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtcccagtttccaaaagttCggattcttcgcctcaaagag	8	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:158142577C>T	uc002tzg.2	+	3	1927	c.1672C>T	c.(1672-1674)CGG>TGG	p.R558W	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	558	Catalytic subdomain A.|Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4						TCCAAAAGTTCGGATTCTTCG	0.378													T	158142577	C	T	158142577	3	4	104	1	0	0	0	0	1	0	0	0	6216	875	31	1	1682	1	GALNT5	2	158142577	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	27376	158142577	85056796	1098	67712											
PKP4	8502	broad.mit.edu	37	chr2	159481805	159481805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtcgtcgtcccccaaacGctcagggatgaccgccgtac	13	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:159481805G>A	uc002tzv.2	+	7	1279	c.1019G>A	c.(1018-1020)CGC>CAC	p.R340H	PKP4_uc002tzt.1_Missense_Mutation_p.R192H|PKP4_uc002tzu.2_Missense_Mutation_p.R340H|PKP4_uc002tzw.2_Missense_Mutation_p.R340H|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.R338H|PKP4_uc002uaa.2_Missense_Mutation_p.R192H	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	340					cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						TCCCCCAAACGCTCAGGGATG	0.577										HNSCC(62;0.18)			A	159481805	G	A	159481805	3	1	104	1	0	0	0	0	1	0	0	0	11987	1087	38	1	1041	1	PKP4	2	159481805	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1339228	159481805	83717568	1099	67713											
TANC1	85461	broad.mit.edu	37	chr2	160019918	160019918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccgcagggcagataactgCtccccagtggcagaagagga	14	11	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:160019918C>T	uc002uag.2	+	8	1081	c.807C>T	c.(805-807)TGC>TGT	p.C269C	TANC1_uc010fol.1_Silent_p.C163C|TANC1_uc010zcm.1_Silent_p.C268C|TANC1_uc010fom.1_Intron	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	269						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						CAGATAACTGCTCCCCAGTGG	0.537													T	160019918	C	T	160019918	2	4	104	1	0	0	0	0	0	0	0	1	15541	805	28	2		2	TANC1	2	160019918	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	538113	160019918	83179455	1100	67714											
BAZ2B	29994	broad.mit.edu	37	chr2	160193585	160193585	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggagcaatatcctcttcAattctgcattgaaatataga	6	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:160193585A>C	uc002uao.2	-	33	6016	c.5664T>G	c.(5662-5664)ATT>ATG	p.I1888M	BAZ2B_uc002uap.2_Missense_Mutation_p.I1852M	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1888					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						TATCCTCTTCAATTCTGCATT	0.413													C	160193585	A	C	160193585	3	2	104	1	0	0	0	0	1	0	0	0	1332	126	5	5	862	5	BAZ2B	2	160193585	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	173667	160193585	83005788	1101	67715											
BAZ2B	29994	broad.mit.edu	37	chr2	160303396	160303396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcttgtacttttagtttgtCccatggaacttgaagcagta	9	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:160303396C>T	uc002uao.2	-	6	945	c.593G>A	c.(592-594)GGA>GAA	p.G198E	BAZ2B_uc002uap.2_Missense_Mutation_p.G196E|BAZ2B_uc002uas.1_Missense_Mutation_p.G135E|BAZ2B_uc002uau.1_Missense_Mutation_p.G196E|BAZ2B_uc002uaq.1_Missense_Mutation_p.G126E|BAZ2B_uc002uat.3_Missense_Mutation_p.G135E|BAZ2B_uc010fop.1_Missense_Mutation_p.G196E	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	198	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						TTTAGTTTGTCCCATGGAACT	0.363													T	160303396	C	T	160303396	3	4	104	1	0	0	0	0	1	0	0	0	1332	855	30	4	6041	4	BAZ2B	2	160303396	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	109811	160303396	82895977	1102	67716											
BAZ2B	29994	broad.mit.edu	37	chr2	160304759	160304759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaaatgtggatacctttttCgggaccatttcgattacttt	8	7	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:160304759C>T	uc002uao.2	-	5	848	c.496G>A	c.(496-498)GAA>AAA	p.E166K	BAZ2B_uc002uap.2_Missense_Mutation_p.E164K|BAZ2B_uc002uas.1_Missense_Mutation_p.E103K|BAZ2B_uc002uau.1_Missense_Mutation_p.E164K|BAZ2B_uc002uaq.1_Missense_Mutation_p.E94K|BAZ2B_uc002uat.3_Missense_Mutation_p.E103K|BAZ2B_uc010fop.1_Missense_Mutation_p.E164K	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	166	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						ATACCTTTTTCGGGACCATTT	0.333													T	160304759	C	T	160304759	3	4	104	1	0	0	0	0	1	0	0	0	1332	893	31	1	6142	1	BAZ2B	2	160304759	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1363	160304759	82894614	1103	67717											
LY75	4065	broad.mit.edu	37	chr2	160731976	160731976	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttataacaagaaagacttgcGgggaaactctgccagccttc	9	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:160731976G>A	uc002ubc.3	-	12	2022	c.1953C>T	c.(1951-1953)CCC>CCT	p.P651P	LY75_uc002ubb.3_Silent_p.P651P|LY75_uc010fos.2_Silent_p.P651P|LY75_uc010fot.1_Silent_p.P651P	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	651	Extracellular (Potential).				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		AAAGACTTGCGGGGAAACTCT	0.433													A	160731976	G	A	160731976	2	1	104	1	0	0	0	0	0	0	0	1	9099	1103	39	1		1	LY75	2	160731976	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	427217	160731976	82467397	1104	67718											
ITGB6	3694	broad.mit.edu	37	chr2	160994243	160994243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacttctttctgacagtcGcagttgcattctgggctgac	9	12	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:160994243G>A	uc002ubh.2	-	10	1378	c.1362C>T	c.(1360-1362)TGC>TGT	p.C454C	ITGB6_uc010fou.2_Silent_p.C454C|ITGB6_uc010zcq.1_Silent_p.C412C|ITGB6_uc010fov.1_Silent_p.C454C	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6 precursor	454	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3						TCTGACAGTCGCAGTTGCATT	0.547													A	160994243	G	A	160994243	2	1	104	1	0	0	0	0	0	0	0	1	7899	1079	38	1		1	ITGB6	2	160994243	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	262267	160994243	82205130	1105	67719											
ITGB6	3694	broad.mit.edu	37	chr2	161052788	161052788	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acaatgtcagaactatttttCtgtctgcctacactgagagg	8	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:161052788C>A	uc002ubh.2	-	3	301	c.285G>T	c.(283-285)CAG>CAT	p.Q95H	ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Missense_Mutation_p.Q95H|ITGB6_uc010zcq.1_Missense_Mutation_p.Q53H|ITGB6_uc010fov.1_Missense_Mutation_p.Q95H	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6 precursor	95	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3						AACTATTTTTCTGTCTGCCTA	0.378													A	161052788	C	A	161052788	3	1	104	1	0	0	0	0	1	0	0	0	7899	912	32	5	2133	5	ITGB6	2	161052788	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	58545	161052788	82146585	1106	67720											
SLC4A10	57282	broad.mit.edu	37	chr2	162762303	162762303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttccctgatttgcatcAttttcatttatgaggccctg	7	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:162762303A>G	uc002ubx.3	+	15	2087	c.1903A>G	c.(1903-1905)ATT>GTT	p.I635V	SLC4A10_uc002uby.3_Missense_Mutation_p.I605V|SLC4A10_uc010zcs.1_Missense_Mutation_p.I616V	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	635	Helical; (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						GATTTGCATCATTTTCATTTA	0.413													G	162762303	A	G	162762303	3	3	104	1	0	0	0	0	1	0	0	0	14651	217	8	3	2046	3	SLC4A10	2	162762303	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1709515	162762303	80437070	1107	67721											
SLC4A10	57282	broad.mit.edu	37	chr2	162804171	162804171	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttttggtctgtgatcctgttCttttccacagttactctgtc	7	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:162804171C>A	uc002ubx.3	+	17	2383	c.2199C>A	c.(2197-2199)TTC>TTA	p.F733L	SLC4A10_uc002uby.3_Missense_Mutation_p.F703L|SLC4A10_uc010zcs.1_Missense_Mutation_p.F714L	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	733	Helical; (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						TGATCCTGTTCTTTTCCACAG	0.423													A	162804171	C	A	162804171	3	1	104	1	0	0	0	0	1	0	0	0	14651	912	32	5	2350	5	SLC4A10	2	162804171	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	41868	162804171	80395202	1108	67722											
SLC4A10	57282	broad.mit.edu	37	chr2	162805661	162805661	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttttcattatttttaggttCgatccatagtgagtgacttt	8	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:162805661C>T	uc002ubx.3	+	18	2453	c.2269C>T	c.(2269-2271)CGA>TGA	p.R757*	SLC4A10_uc002uby.3_Nonsense_Mutation_p.R727*|SLC4A10_uc010zcs.1_Nonsense_Mutation_p.R738*	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	757	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						TTTTTAGGTTCGATCCATAGT	0.338													T	162805661	C	T	162805661	4	4	104	1	0	0	0	0	0	1	0	0	14651	876	31	1	2424	1	SLC4A10	2	162805661	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1490	162805661	80393712	1109	67723											
GCG	2641	broad.mit.edu	37	chr2	163003923	163003923	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcacgcctggagtccagaTacttgctgtagtcactggtg	14	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:163003923T>C	uc002ucc.2	-	3	293	c.194A>G	c.(193-195)TAT>TGT	p.Y65C		NM_002054	NP_002045	P01275	GLUC_HUMAN	glucagon preproprotein	65					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity				0					Exenatide(DB01276)|Phentolamine(DB00692)	GGAGTCCAGATACTTGCTGTA	0.483													C	163003923	T	C	163003923	3	2	104	1	0	0	0	0	1	0	0	0	6290	1406	49	3	364	3	GCG	2	163003923	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	198262	163003923	80195450	1110	67724											
FAP	2191	broad.mit.edu	37	chr2	163070503	163070503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtcacatatagacaggaccGaaacattctggactcttttt	7	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:163070503G>A	uc002ucd.2	-	11	1155	c.947C>T	c.(946-948)TCG>TTG	p.S316L	FAP_uc010zct.1_Missense_Mutation_p.S291L|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Missense_Mutation_p.S283L	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	316	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3						AGACAGGACCGAAACATTCTG	0.398													A	163070503	G	A	163070503	3	1	104	1	0	0	0	0	1	0	0	0	5673	1059	37	1	1399	1	FAP	2	163070503	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	66580	163070503	80128870	1111	67725											
IFIH1	64135	broad.mit.edu	37	chr2	163134117	163134117	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtatacgcatctatcattcGaattgtgtcattaatttgta	6	6	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:163134117G>A	uc002uce.2	-	10	2074	c.1852C>T	c.(1852-1854)CGA>TGA	p.R618*		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	618					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			ovary(1)	1						TCTATCATTCGAATTGTGTCA	0.299													A	163134117	G	A	163134117	4	1	104	1	0	0	0	0	0	1	0	0	7520	1066	37	1	1253	1	IFIH1	2	163134117	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	63614	163134117	80065256	1112	67726											
IFIH1	64135	broad.mit.edu	37	chr2	163174673	163174673	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcccggaggtggcgactgTcctctgaatctgctccttca	11	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:163174673T>C	uc002uce.2	-	1	367	c.145A>G	c.(145-147)ACA>GCA	p.T49A	IFIH1_uc002ucf.2_Missense_Mutation_p.T49A	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	49	CARD 1.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			ovary(1)	1						GTGGCGACTGTCCTCTGAATC	0.577													C	163174673	T	C	163174673	3	2	104	1	0	0	0	0	1	0	0	0	7520	1667	58	3	2996	3	IFIH1	2	163174673	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	40556	163174673	80024700	1113	67727											
KCNH7	90134	broad.mit.edu	37	chr2	163241450	163241450	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggatcatttgtactgttttCtttgccaaaatatatcaaag	6	6	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:163241450C>T	uc002uch.1	-	13	2923	c.2711_splice	c.e13-1	p.E904_splice		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,						regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	GTACTGTTTTCTTTGCCAAAA	0.318													T	163241450	C	T	163241450	5	4	104	1	0	0	0	0	0	0	1	0	8037	927	32	4	896	4	KCNH7	2	163241450	Splice_Site	SNP	C	TCGA-BR-8680-01A-11D-2394-08	66777	163241450	79957923	1114	67728											
GRB14	2888	broad.mit.edu	37	chr2	165378577	165378577	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacttctttccctgttctttCgcatgtaagaaaccatgaat	6	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:165378577C>T	uc002ucl.2	-	6	1270	c.729G>A	c.(727-729)GCG>GCA	p.A243A	GRB14_uc010zcv.1_Silent_p.A156A|GRB14_uc002ucm.2_RNA	NM_004490	NP_004481	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	243	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						CCTGTTCTTTCGCATGTAAGA	0.279													T	165378577	C	T	165378577	2	4	104	1	0	0	0	0	0	0	0	1	6757	871	31	1		1	GRB14	2	165378577	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2137127	165378577	77820796	1115	67729											
GRB14	2888	broad.mit.edu	37	chr2	165477817	165477817	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccatcttgcagggaagtggtCattgtcgccggccggggggc	17	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:165477817C>A	uc002ucl.2	-	1	544	c.3G>T	c.(1-3)ATG>ATT	p.M1I	GRB14_uc002ucm.2_RNA	NM_004490	NP_004481	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	1					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						GGGAAGTGGTCATTGTCGCCG	0.751													A	165477817	C	A	165477817	3	1	104	1	0	0	0	0	1	0	0	0	6757	826	29	5	1675	5	GRB14	2	165477817	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	99240	165477817	77721556	1116	67730											
COBLL1	22837	broad.mit.edu	37	chr2	165552047	165552047	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggagtcagataaattatgatCttggtgtttcccatcaaaac	8	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:165552047C>A	uc010zcw.1	-	15	2294	c.2170G>T	c.(2170-2172)GAT>TAT	p.D724Y	COBLL1_uc002ucp.2_Missense_Mutation_p.D657Y|COBLL1_uc002ucq.2_Missense_Mutation_p.D619Y|COBLL1_uc010zcx.1_Missense_Mutation_p.D665Y|COBLL1_uc002ucn.2_Missense_Mutation_p.D85Y|COBLL1_uc002uco.2_Missense_Mutation_p.D388Y	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	695										ovary(2)|pancreas(1)	3						AAATTATGATCTTGGTGTTTC	0.358													A	165552047	C	A	165552047	3	1	104	1	0	0	0	0	1	0	0	0	3654	913	32	5	1543	5	COBLL1	2	165552047	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	74230	165552047	77647326	1117	67731											
COBLL1	22837	broad.mit.edu	37	chr2	165552116	165552116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatcttttgtcttttctgCactgggttgattcagttttt	8	7	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:165552116C>T	uc010zcw.1	-	15	2225	c.2101G>A	c.(2101-2103)GCA>ACA	p.A701T	COBLL1_uc002ucp.2_Missense_Mutation_p.A634T|COBLL1_uc002ucq.2_Missense_Mutation_p.A596T|COBLL1_uc010zcx.1_Missense_Mutation_p.A642T|COBLL1_uc002ucn.2_Missense_Mutation_p.A62T|COBLL1_uc002uco.2_Missense_Mutation_p.A365T	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	672										ovary(2)|pancreas(1)	3						GTCTTTTCTGCACTGGGTTGA	0.383													T	165552116	C	T	165552116	3	4	104	1	0	0	0	0	1	0	0	0	3654	710	25	2	1612	2	COBLL1	2	165552116	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	69	165552116	77647257	1118	67732											
COBLL1	22837	broad.mit.edu	37	chr2	165584506	165584506	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacatccatcgcatataattCtcttagtcccaggtcattaa	5	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:165584506C>A	uc010zcw.1	-	6	917	c.793G>T	c.(793-795)GAA>TAA	p.E265*	COBLL1_uc002ucp.2_Nonsense_Mutation_p.E212*|COBLL1_uc002ucq.2_Nonsense_Mutation_p.E212*|COBLL1_uc010zcx.1_Nonsense_Mutation_p.E258*|COBLL1_uc002ucs.1_RNA|COBLL1_uc002uco.2_5'Flank	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	250										ovary(2)|pancreas(1)	3						GCATATAATTCTCTTAGTCCC	0.343													A	165584506	C	A	165584506	4	1	104	1	0	0	0	0	0	1	0	0	3654	922	32	5	2910	5	COBLL1	2	165584506	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	32390	165584506	77614867	1119	67733											
SLC38A11	151258	broad.mit.edu	37	chr2	165772419	165772419	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccaaatactcaccaaaagAcataaccccgaccgcttgaa	4	14	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:165772419A>G	uc002ucv.1	-	9	1051	c.514T>C	c.(514-516)TCT>CCT	p.S172P	SLC38A11_uc002ucu.1_Missense_Mutation_p.S150P|SLC38A11_uc002ucw.1_Missense_Mutation_p.S172P	NM_173512	NP_775783	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	172	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1						TCACCAAAAGACATAACCCCG	0.388													G	165772419	A	G	165772419	3	3	104	1	0	0	0	0	1	0	0	0	14603	275	10	3	726	3	SLC38A11	2	165772419	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	187913	165772419	77426954	1120	67734											
SCN3A	6328	broad.mit.edu	37	chr2	165947775	165947775	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgatcagacgtaggattcGgccaatcctggcaagacgga	12	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:165947775G>A	uc002ucx.2	-	28	5380	c.4888C>T	c.(4888-4890)CGA>TGA	p.R1630*	SCN3A_uc010zcy.1_Nonsense_Mutation_p.R113*|SCN3A_uc002ucy.2_Nonsense_Mutation_p.R1581*|SCN3A_uc002ucz.2_Nonsense_Mutation_p.R1581*	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1630	Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	CGTAGGATTCGGCCAATCCTG	0.478													A	165947775	G	A	165947775	4	1	104	1	0	0	0	0	0	1	0	0	13918	1124	39	1	1118	1	SCN3A	2	165947775	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	175356	165947775	77251598	1121	67735											
SCN3A	6328	broad.mit.edu	37	chr2	165996041	165996041	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggctctttgccttccagaGgaatcctccagcatctccat	7	15	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:165996041G>T	uc002ucx.2	-	14	2589	c.2097C>A	c.(2095-2097)TCC>TCA	p.S699S	SCN3A_uc002ucy.2_Silent_p.S650S|SCN3A_uc002ucz.2_Silent_p.S650S|SCN3A_uc002uda.1_Silent_p.S519S|SCN3A_uc002udb.1_Silent_p.S519S	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	699						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	GCCTTCCAGAGGAATCCTCCA	0.473													T	165996041	G	T	165996041	2	4	104	1	0	0	0	0	0	0	0	1	13918	987	35	5		5	SCN3A	2	165996041	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	48266	165996041	77203332	1122	67736											
SCN3A	6328	broad.mit.edu	37	chr2	166021012	166021012	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ataagtgactcaaaggtataGattccagtgaatgtgtacct	9	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:166021012G>T	uc002ucx.2	-	6	984	c.492C>A	c.(490-492)ATC>ATA	p.I164I	SCN3A_uc002ucy.2_Silent_p.I164I|SCN3A_uc002ucz.2_Silent_p.I164I|SCN3A_uc002uda.1_Silent_p.I33I|SCN3A_uc002udb.1_Silent_p.I33I	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	164	Helical; Name=S2 of repeat I; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	CAAAGGTATAGATTCCAGTGA	0.348													T	166021012	G	T	166021012	2	4	104	1	0	0	0	0	0	0	0	1	13918	932	33	5		5	SCN3A	2	166021012	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	24971	166021012	77178361	1123	67737											
SCN2A	6326	broad.mit.edu	37	chr2	166152574	166152574	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtcagtgcccctggaggatCtggacccctactatatcaat	9	12	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:166152574C>A	uc002udc.2	+	2	531	c.241C>A	c.(241-243)CTG>ATG	p.L81M	SCN2A_uc002udd.2_Missense_Mutation_p.L81M|SCN2A_uc002ude.2_Missense_Mutation_p.L81M	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	81					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	CCTGGAGGATCTGGACCCCTA	0.448													A	166152574	C	A	166152574	3	1	104	1	0	0	0	0	1	0	0	0	13916	912	32	5	243	5	SCN2A	2	166152574	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	131562	166152574	77046799	1124	67738											
SCN2A	6326	broad.mit.edu	37	chr2	166198827	166198827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcacagggatcttcacaGcagaaatgtttctcaagata	7	9	5	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:166198827G>A	uc002udc.2	+	15	2700	c.2410G>A	c.(2410-2412)GCA>ACA	p.A804T	SCN2A_uc002udd.2_Missense_Mutation_p.A804T|SCN2A_uc002ude.2_Missense_Mutation_p.A804T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	804	II.|Helical; Name=S2 of repeat II; (Potential).				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	GATCTTCACAGCAGAAATGTT	0.333													A	166198827	G	A	166198827	3	1	104	1	0	0	0	0	1	0	0	0	13916	971	34	2	2560	2	SCN2A	2	166198827	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	46253	166198827	77000546	1125	67739											
SCN2A	6326	broad.mit.edu	37	chr2	166223836	166223836	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atagtggagcacaattggttCgaaaccttcattgtcttcat	8	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:166223836C>T	uc002udc.2	+	19	3920	c.3630C>T	c.(3628-3630)TTC>TTT	p.F1210F	SCN2A_uc002udd.2_Silent_p.F1210F|SCN2A_uc002ude.2_Silent_p.F1210F	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1210	III.|Helical; Name=S1 of repeat III; (Potential).				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	ACAATTGGTTCGAAACCTTCA	0.433													T	166223836	C	T	166223836	2	4	104	1	0	0	0	0	0	0	0	1	13916	883	31	1		1	SCN2A	2	166223836	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	25009	166223836	76975537	1126	67740											
SCN2A	6326	broad.mit.edu	37	chr2	166245742	166245742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaagtttgatcccgatgCgacccagtttatagagtttg	12	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:166245742C>T	uc002udc.2	+	27	5716	c.5426C>T	c.(5425-5427)GCG>GTG	p.A1809V	SCN2A_uc002udd.2_Missense_Mutation_p.A1809V|SCN2A_uc002ude.2_Missense_Mutation_p.A1809V	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1809	IV.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	GATCCCGATGCGACCCAGTTT	0.458													T	166245742	C	T	166245742	3	4	104	1	0	0	0	0	1	0	0	0	13916	768	27	1	5624	1	SCN2A	2	166245742	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	21906	166245742	76953631	1127	67741											
CSRNP3	80034	broad.mit.edu	37	chr2	166535407	166535407	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gataagtgctcacagtagttCtatgggccctgtcgctcact	10	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:166535407C>T	uc002udf.2	+	7	1278	c.902C>T	c.(901-903)TCT>TTT	p.S301F	CSRNP3_uc002udg.2_Missense_Mutation_p.S301F	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	301					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						CACAGTAGTTCTATGGGCCCT	0.488													T	166535407	C	T	166535407	3	4	104	1	0	0	0	0	1	0	0	0	3965	913	32	4	916	4	CSRNP3	2	166535407	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	289665	166535407	76663966	1128	67742											
CSRNP3	80034	broad.mit.edu	37	chr2	166535733	166535733	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgtccctcttccttcagttCtttgttattctgatggcacc	6	12	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:166535733C>T	uc002udf.2	+	7	1604	c.1228C>T	c.(1228-1230)CTT>TTT	p.L410F	CSRNP3_uc002udg.2_Missense_Mutation_p.L410F	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	410					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						TCCTTCAGTTCTTTGTTATTC	0.398													T	166535733	C	T	166535733	3	4	104	1	0	0	0	0	1	0	0	0	3965	913	32	4	1242	4	CSRNP3	2	166535733	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	326	166535733	76663640	1129	67743											
TTC21B	79809	broad.mit.edu	37	chr2	166767940	166767940	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcaaagataattcttttgTccagttttcagagcagcttc	7	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:166767940T>C	uc002udk.2	-	18	2491	c.2358A>G	c.(2356-2358)GGA>GGG	p.G786G		NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	786	TPR 10.					cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						AATTCTTTTGTCCAGTTTTCA	0.373													C	166767940	T	C	166767940	2	2	104	1	0	0	0	0	0	0	0	1	16685	1654	58	3		3	TTC21B	2	166767940	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	232207	166767940	76431433	1130	67744											
SCN1A	6323	broad.mit.edu	37	chr2	166852557	166852557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggcttttgcggttttttcGatcctaattttttcattgca	7	7	1	0	rs139300715		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:166852557G>A	uc010zcz.1	-	24	4532	c.4514C>T	c.(4513-4515)TCG>TTG	p.S1505L		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1516						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1505L(1)		ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CGGTTTTTTCGATCCTAATTT	0.328													A	166852557	G	A	166852557	3	1	104	1	0	0	0	0	1	0	0	0	13914	1059	37	1	1494	1	SCN1A	2	166852557	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	84617	166852557	76346816	1131	67745											
SCN1A	6323	broad.mit.edu	37	chr2	166870258	166870258	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttaatctcactcaccagaGcaccactactaaggagaatc	5	13	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:166870258G>T	uc010zcz.1	-	18	3686	c.3668C>A	c.(3667-3669)GCT>GAT	p.A1223D	SCN1A_uc002udo.3_Missense_Mutation_p.A1103D|SCN1A_uc010fpk.2_Missense_Mutation_p.A1075D	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1234	III.|Helical; Name=S1 of repeat III; (By similarity).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACTCACCAGAGCACCACTACT	0.368													T	166870258	G	T	166870258	3	4	104	1	0	0	0	0	1	0	0	0	13914	971	34	5	2364	5	SCN1A	2	166870258	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	17701	166870258	76329115	1132	67746											
SCN1A	6323	broad.mit.edu	37	chr2	166900452	166900452	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgctgtgctcatcatctgcGaagtcgttctcagatcccac	9	13	4	1	rs146520391		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:166900452G>A	uc010zcz.1	-	11	1788	c.1770C>T	c.(1768-1770)TTC>TTT	p.F590F	SCN1A_uc002udo.3_Silent_p.F459F|SCN1A_uc010fpk.2_Silent_p.F459F	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	590						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.F590F(1)		ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CATCATCTGCGAAGTCGTTCT	0.517													A	166900452	G	A	166900452	2	1	104	1	0	0	0	0	0	0	0	1	13914	1049	37	1		1	SCN1A	2	166900452	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	30194	166900452	76298921	1133	67747											
SCN9A	6335	broad.mit.edu	37	chr2	167060699	167060699	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actaatatcaaaggcttgatTtgtcactaggtcaaatatac	6	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:167060699T>A	uc010fpl.2	-	26	4848	c.4507A>T	c.(4507-4509)AAT>TAT	p.N1503Y	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1514	IV.|Helical; Name=S1 of repeat IV; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	AAGGCTTGATTTGTCACTAGG	0.323													A	167060699	T	A	167060699	3	1	104	1	0	0	0	0	1	0	0	0	13925	1841	64	5	1434	5	SCN9A	2	167060699	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	160247	167060699	76138674	1134	67748											
SCN9A	6335	broad.mit.edu	37	chr2	167141144	167141144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggctgatgttactgctgCgtcgctcctggggtctgtgg	15	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:167141144C>T	uc010fpl.2	-	12	2134	c.1793G>A	c.(1792-1794)CGC>CAC	p.R598H	uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.R469H|SCN9A_uc002uds.1_Missense_Mutation_p.R469H|SCN9A_uc002udt.1_Missense_Mutation_p.R469H	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	598						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	GTTACTGCTGCGTCGCTCCTG	0.552													T	167141144	C	T	167141144	3	4	104	1	0	0	0	0	1	0	0	0	13925	768	27	1	4204	1	SCN9A	2	167141144	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	80445	167141144	76058229	1135	67749											
SCN9A	6335	broad.mit.edu	37	chr2	167141266	167141266	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atatctcttcctctgcctttGaaactaaaaagacttgttct	4	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:167141266G>T	uc010fpl.2	-	12	2012	c.1671C>A	c.(1669-1671)TTC>TTA	p.F557L	uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.F428L|SCN9A_uc002uds.1_Missense_Mutation_p.F428L|SCN9A_uc002udt.1_Missense_Mutation_p.F428L	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	557						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTCTGCCTTTGAAACTAAAAA	0.443													T	167141266	G	T	167141266	3	4	104	1	0	0	0	0	1	0	0	0	13925	1281	45	5	4326	5	SCN9A	2	167141266	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	122	167141266	76058107	1136	67750											
SCN9A	6335	broad.mit.edu	37	chr2	167162341	167162341	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatccagccagttccacgggTcacgaagaaaagtgaattct	9	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:167162341T>C	uc010fpl.2	-	5	898	c.557A>G	c.(556-558)GAC>GGC	p.D186G	SCN9A_uc002udr.1_Missense_Mutation_p.D57G|SCN9A_uc002uds.1_Missense_Mutation_p.D57G|SCN9A_uc002udt.1_Missense_Mutation_p.D57G	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	186	I.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	GTTCCACGGGTCACGAAGAAA	0.383													C	167162341	T	C	167162341	3	2	104	1	0	0	0	0	1	0	0	0	13925	1667	58	3	5468	3	SCN9A	2	167162341	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	21075	167162341	76037032	1137	67751											
SCN9A	6335	broad.mit.edu	37	chr2	167163559	167163559	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgaaacggaagattgttTtccctttgttcaatactatg	7	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:167163559T>G	uc010fpl.2	-	3	625	c.284A>C	c.(283-285)AAA>ACA	p.K95T	SCN9A_uc002udr.1_5'Flank|SCN9A_uc002uds.1_5'Flank|SCN9A_uc002udt.1_5'Flank	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	95						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	GAAGATTGTTTTCCCTTTGTT	0.333													G	167163559	T	G	167163559	3	3	104	1	0	0	0	0	1	0	0	0	13925	1841	64	5	5749	5	SCN9A	2	167163559	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1218	167163559	76035814	1138	67752											
SCN7A	6332	broad.mit.edu	37	chr2	167262951	167262951	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaattatacattccaaaTacggcatagatgaacatgac	6	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:167262951T>C	uc002udu.1	-	25	4315	c.4188A>G	c.(4186-4188)GTA>GTG	p.V1396V		NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	1396	Helical; Name=S5 of repeat IV; (By similarity).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						ACATTCCAAATACGGCATAGA	0.363													C	167262951	T	C	167262951	2	2	104	1	0	0	0	0	0	0	0	1	13923	1393	49	3		3	SCN7A	2	167262951	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	99392	167262951	75936422	1139	67753											
SCN7A	6332	broad.mit.edu	37	chr2	167304120	167304120	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctacttatttagtactttAccttccttatgtctgagagt	6	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:167304120A>G	uc002udu.1	-	11	1514	c.1387_splice	c.e11+1	p.E463_splice	SCN7A_uc010fpm.1_Splice_Site	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha						muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						TTAGTACTTTACCTTCCTTAT	0.338													G	167304120	A	G	167304120	5	3	104	1	0	0	0	0	0	0	1	0	13923	405	14	3	3719	3	SCN7A	2	167304120	Splice_Site	SNP	A	TCGA-BR-8680-01A-11D-2394-08	41169	167304120	75895253	1140	67754											
XIRP2	129446	broad.mit.edu	37	chr2	168098327	168098327	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagagattccaaaggtttcGactaagttgttaaaagagca	10	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:168098327G>A	uc002udx.2	+	7	1101	c.1083G>A	c.(1081-1083)TCG>TCA	p.S361S	XIRP2_uc010fpn.2_Silent_p.S394S|XIRP2_uc010fpo.2_Silent_p.S361S|XIRP2_uc010fpp.2_Silent_p.S361S|XIRP2_uc002udy.2_Silent_p.S186S|XIRP2_uc010fpq.2_Silent_p.S139S|XIRP2_uc010fpr.2_Silent_p.S139S	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	186					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CAAAGGTTTCGACTAAGTTGT	0.363													A	168098327	G	A	168098327	2	1	104	1	0	0	0	0	0	0	0	1	17427	1045	37	1		1	XIRP2	2	168098327	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	794207	168098327	75101046	1141	67755											
XIRP2	129446	broad.mit.edu	37	chr2	168100110	168100110	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaagaagtataaaatgtttCgaaactcaaccattatatgt	5	5	1	1	rs76149079	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:168100110C>T	uc002udx.2	+	8	2226	c.2208C>T	c.(2206-2208)TTC>TTT	p.F736F	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.F561F|XIRP2_uc010fpq.2_Silent_p.F514F|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	561	Xin 6.				actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TAAAATGTTTCGAAACTCAAC	0.368													T	168100110	C	T	168100110	2	4	104	1	0	0	0	0	0	0	0	1	17427	883	31	1		1	XIRP2	2	168100110	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1783	168100110	75099263	1142	67756											
XIRP2	129446	broad.mit.edu	37	chr2	168100781	168100781	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaaacaatttaattaaatTtgatgcatcacataaaatag	3	5	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:168100781T>G	uc002udx.2	+	8	2897	c.2879T>G	c.(2878-2880)TTT>TGT	p.F960C	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.F785C|XIRP2_uc010fpq.2_Missense_Mutation_p.F738C|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	785					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TTAATTAAATTTGATGCATCA	0.348													G	168100781	T	G	168100781	3	3	104	1	0	0	0	0	1	0	0	0	17427	1841	64	5	2909	5	XIRP2	2	168100781	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	671	168100781	75098592	1143	67757											
XIRP2	129446	broad.mit.edu	37	chr2	168101110	168101110	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgattcaattaaatatTttagtgatgtggaagaaaca	7	4	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:168101110T>G	uc002udx.2	+	8	3226	c.3208T>G	c.(3208-3210)TTT>GTT	p.F1070V	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.F895V|XIRP2_uc010fpq.2_Missense_Mutation_p.F848V|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	895					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AATTAAATATTTTAGTGATGT	0.338													G	168101110	T	G	168101110	3	3	104	1	0	0	0	0	1	0	0	0	17427	1841	64	5	3238	5	XIRP2	2	168101110	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	329	168101110	75098263	1144	67758											
XIRP2	129446	broad.mit.edu	37	chr2	168101932	168101932	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttaaaaaagaagaggtaattCatggagatgtgcgaggaaca	12	3	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:168101932C>A	uc002udx.2	+	8	4048	c.4030C>A	c.(4030-4032)CAT>AAT	p.H1344N	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.H1169N|XIRP2_uc010fpq.2_Missense_Mutation_p.H1122N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1169					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AGAGGTAATTCATGGAGATGT	0.383													A	168101932	C	A	168101932	3	1	104	1	0	0	0	0	1	0	0	0	17427	826	29	5	4060	5	XIRP2	2	168101932	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	822	168101932	75097441	1145	67759											
XIRP2	129446	broad.mit.edu	37	chr2	168103654	168103654	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaattctgaaaaaggagcttCtcaaagatgacctggaaaca	8	7	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:168103654C>T	uc002udx.2	+	8	5770	c.5752C>T	c.(5752-5754)CTC>TTC	p.L1918F	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.L1743F|XIRP2_uc010fpq.2_Missense_Mutation_p.L1696F|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1743	Potential.				actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AAAGGAGCTTCTCAAAGATGA	0.353													T	168103654	C	T	168103654	3	4	104	1	0	0	0	0	1	0	0	0	17427	913	32	4	5782	4	XIRP2	2	168103654	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1722	168103654	75095719	1146	67760											
XIRP2	129446	broad.mit.edu	37	chr2	168103786	168103786	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcctcgggagagcagaaaAcagatattcatcaggttgct	11	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:168103786A>G	uc002udx.2	+	8	5902	c.5884A>G	c.(5884-5886)ACA>GCA	p.T1962A	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.T1787A|XIRP2_uc010fpq.2_Missense_Mutation_p.T1740A|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1787					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AGAGCAGAAAACAGATATTCA	0.443													G	168103786	A	G	168103786	3	3	104	1	0	0	0	0	1	0	0	0	17427	43	2	3	5914	3	XIRP2	2	168103786	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	132	168103786	75095587	1147	67761											
XIRP2	129446	broad.mit.edu	37	chr2	168105219	168105219	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaaagataataagaacgaTttttcccccaaagttgaact	5	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:168105219T>G	uc002udx.2	+	8	7335	c.7317T>G	c.(7315-7317)GAT>GAG	p.D2439E	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D2264E|XIRP2_uc010fpq.2_Missense_Mutation_p.D2217E|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2264					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						ATAAGAACGATTTTTCCCCCA	0.408													G	168105219	T	G	168105219	3	3	104	1	0	0	0	0	1	0	0	0	17427	1490	52	5	7347	5	XIRP2	2	168105219	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1433	168105219	75094154	1148	67762											
XIRP2	129446	broad.mit.edu	37	chr2	168105268	168105268	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtcagatatggaatgtAaaattactacctcaaaggat	7	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:168105268A>G	uc002udx.2	+	8	7384	c.7366A>G	c.(7366-7368)AAA>GAA	p.K2456E	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K2281E|XIRP2_uc010fpq.2_Missense_Mutation_p.K2234E|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2281					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TATGGAATGTAAAATTACTAC	0.393													G	168105268	A	G	168105268	3	3	104	1	0	0	0	0	1	0	0	0	17427	363	13	3	7396	3	XIRP2	2	168105268	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	49	168105268	75094105	1149	67763											
SPC25	57405	broad.mit.edu	37	chr2	169732594	169732594	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaacttaccataaatttttcGaatttctagtccaagtcgat	4	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:169732594G>A	uc002uel.2	-	5	570	c.439C>T	c.(439-441)CGA>TGA	p.R147*		NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN	spindle pole body component 25	147	Interaction with the C-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			central_nervous_system(1)	1						TAAATTTTTCGAATTTCTAGT	0.284													A	169732594	G	A	169732594	4	1	104	1	0	0	0	0	0	1	0	0	15021	1066	37	1	247	1	SPC25	2	169732594	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1627326	169732594	73466779	1150	67764											
ABCB11	8647	broad.mit.edu	37	chr2	169814479	169814479	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagctgtgtacttaccccaaGaatctggctgaataaaaagg	9	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:169814479G>T	uc002ueo.1	-	19	2464	c.2338C>A	c.(2338-2340)CTT>ATT	p.L780I	ABCB11_uc010zda.1_Missense_Mutation_p.L222I|ABCB11_uc010zdb.1_Missense_Mutation_p.L256I	NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	780	Extracellular (Potential).|ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTTACCCCAAGAATCTGGCTG	0.423													T	169814479	G	T	169814479	3	4	104	1	0	0	0	0	1	0	0	0	42	942	33	5	1667	5	ABCB11	2	169814479	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	81885	169814479	73384894	1151	67765											
ABCB11	8647	broad.mit.edu	37	chr2	169869801	169869801	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccacaacgtgttccatttgTcatgttctggttgagggaac	10	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:169869801T>C	uc002ueo.1	-	5	496	c.370A>G	c.(370-372)ACA>GCA	p.T124A		NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	124	ABC transmembrane type-1 1.|Extracellular (Potential).				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GTTCCATTTGTCATGTTCTGG	0.343													C	169869801	T	C	169869801	3	2	104	1	0	0	0	0	1	0	0	0	42	1667	58	3	3691	3	ABCB11	2	169869801	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	55322	169869801	73329572	1152	67766											
LRP2	4036	broad.mit.edu	37	chr2	170011043	170011043	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcatcttgaagatactctgaGaacctctcagatgagagatt	8	8	4	6			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:170011043G>T	uc002ues.2	-	66	12435	c.12222C>A	c.(12220-12222)TTC>TTA	p.F4074L		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4074	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GATACTCTGAGAACCTCTCAG	0.398													T	170011043	G	T	170011043	3	4	104	1	0	0	0	0	1	0	0	0	8956	933	33	5	1801	5	LRP2	2	170011043	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	141242	170011043	73188330	1153	67767											
LRP2	4036	broad.mit.edu	37	chr2	170031797	170031797	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagttgccgtcactgcactgGaactgtcccagtcggcagaa	11	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:170031797G>T	uc002ues.2	-	55	10887	c.10674C>A	c.(10672-10674)TTC>TTA	p.F3558L		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3558	LDL-receptor class A 27.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACTGCACTGGAACTGTCCCA	0.532													T	170031797	G	T	170031797	3	4	104	1	0	0	0	0	1	0	0	0	8956	1165	41	5	3393	5	LRP2	2	170031797	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	20754	170031797	73167576	1154	67768											
LRP2	4036	broad.mit.edu	37	chr2	170129474	170129474	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgtatccagttggaagccGaatgtgcacttgcaacggaa	11	9	1	0	rs145709922	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:170129474G>A	uc002ues.2	-	15	2292	c.2079C>T	c.(2077-2079)TTC>TTT	p.F693F	LRP2_uc010zdf.1_Silent_p.F624F	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	693	EGF-like 3.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTTGGAAGCCGAATGTGCACT	0.488													A	170129474	G	A	170129474	2	1	104	1	0	0	0	0	0	0	0	1	8956	1049	37	1		1	LRP2	2	170129474	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	97677	170129474	73069899	1155	67769											
KLHL23	151230	broad.mit.edu	37	chr2	170591738	170591738	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgttcacagctgacatgaaaGaaaaatttaaaaataaaata	5	4	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:170591738G>T	uc002ufh.1	+	4	552	c.214G>T	c.(214-216)GAA>TAA	p.E72*	KLHL23_uc002ufi.1_Nonsense_Mutation_p.E72*	NM_144711	NP_653312	Q8NBE8	KLH23_HUMAN	kelch-like 23	72	BTB.										0						TGACATGAAAGaaaaatttaa	0.353													T	170591738	G	T	170591738	4	4	104	1	0	0	0	0	0	1	0	0	8378	943	33	5	216	5	KLHL23	2	170591738	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	462264	170591738	72607635	1156	67770											
KLHL23	151230	broad.mit.edu	37	chr2	170591939	170591939	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcacttggatattgataatTgtattggaatgcactccttt	9	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:170591939T>C	uc002ufh.1	+	4	753	c.415T>C	c.(415-417)TGT>CGT	p.C139R	KLHL23_uc002ufi.1_Missense_Mutation_p.C139R	NM_144711	NP_653312	Q8NBE8	KLH23_HUMAN	kelch-like 23	139	BACK.										0						TATTGATAATTGTATTGGAAT	0.408													C	170591939	T	C	170591939	3	2	104	1	0	0	0	0	1	0	0	0	8378	1812	63	3	417	3	KLHL23	2	170591939	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	201	170591939	72607434	1157	67771											
METTL5	29081	broad.mit.edu	37	chr2	170681160	170681160	+	Translation_Start_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcacaggatctgcggagaAatctattgaactgggatctt	12	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:170681160A>C	uc002ufn.2	-	1	194	c.-52T>G	c.(-54--50)ATTTC>ATGTC		UBR3_uc010zdi.1_5'Flank|METTL5_uc002ufo.2_Intron|METTL5_uc002ufp.2_Intron|METTL5_uc002ufq.1_Intron	NM_014168	NP_054887	Q9NRN9	METL5_HUMAN	methyltransferase like 5								methyltransferase activity|nucleic acid binding			central_nervous_system(1)	1						TCTGCGGAGAAATCTATTGAA	0.512											OREG0015052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	170681160	A	C	170681160	1	2	104	1	0	0	0	0	0	0	0	0	9503	29	1	5		5	METTL5	2	170681160	Translation_Start_Site	SNP	A	TCGA-BR-8680-01A-11D-2394-08	89221	170681160	72518213	1158	67772											
MYO3B	140469	broad.mit.edu	37	chr2	171399458	171399458	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaaaagggtgcgatatcttCgcaggacatgcaaacaaggt	11	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:171399458C>T	uc002ufy.2	+	31	3761	c.3618C>T	c.(3616-3618)TTC>TTT	p.F1206F	MYO3B_uc010fqb.1_Missense_Mutation_p.S1234L|MYO3B_uc002ufz.2_Silent_p.F1179F|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	1206					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						GCGATATCTTCGCAGGACATG	0.363													T	171399458	C	T	171399458	2	4	104	1	0	0	0	0	0	0	0	1	10077	893	31	1		1	MYO3B	2	171399458	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	718298	171399458	71799915	1159	67773											
SP5	389058	broad.mit.edu	37	chr2	171573683	171573683	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgcgctggcacacgggCgagcgacccttcgtgtgcaa	13	15	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:171573683C>T	uc002uge.2	+	2	1132	c.966C>T	c.(964-966)GGC>GGT	p.G322G		NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGCACACGGGCGAGCGACCCT	0.672													T	171573683	C	T	171573683	2	4	104	1	0	0	0	0	0	0	0	1	14967	755	27	1		1	SP5	2	171573683	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	174225	171573683	71625690	1160	67774											
SP5	389058	broad.mit.edu	37	chr2	171573901	171573901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggttaagcgggaggacgCgcgggacctgtgagccctcc	18	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:171573901C>T	uc002uge.2	+	2	1350	c.1184C>T	c.(1183-1185)GCG>GTG	p.A395V		NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CGGGAGGACGCGCGGGACCTG	0.652													T	171573901	C	T	171573901	3	4	104	1	0	0	0	0	1	0	0	0	14967	768	27	1	1190	1	SP5	2	171573901	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	218	171573901	71625472	1161	67775											
GAD1	2571	broad.mit.edu	37	chr2	171686016	171686016	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggaccaacagcctggaagaGaagagtcgccttgtgagtgc	14	9	0	3	rs138838552		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:171686016G>T	uc002ugi.2	+	4	599	c.177G>T	c.(175-177)GAG>GAT	p.E59D	GAD1_uc002ugh.2_Missense_Mutation_p.E59D	NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	59					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GCCTGGAAGAGAAGAGTCGCC	0.567													T	171686016	G	T	171686016	3	4	104	1	0	0	0	0	1	0	0	0	6179	933	33	5	187	5	GAD1	2	171686016	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	112115	171686016	71513357	1162	67776											
GAD1	2571	broad.mit.edu	37	chr2	171716257	171716257	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctgatgatggagtcaggTacgaccatggttggctacca	13	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:171716257T>C	uc002ugi.2	+	17	2072	c.1650T>C	c.(1648-1650)GGT>GGC	p.G550G	GAD1_uc010fqc.2_Silent_p.G169G	NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	550					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGGAGTCAGGTACGACCATGG	0.478													C	171716257	T	C	171716257	2	2	104	1	0	0	0	0	0	0	0	1	6179	1625	57	3		3	GAD1	2	171716257	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	30241	171716257	71483116	1163	67777											
GORASP2	26003	broad.mit.edu	37	chr2	171811194	171811194	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttggatatggttatttgcatCgaatacctacacgcccattt	7	9	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:171811194C>T	uc002ugk.2	+	6	741	c.601C>T	c.(601-603)CGA>TGA	p.R201*	GORASP2_uc002ugj.2_Nonsense_Mutation_p.R133*|GORASP2_uc010zdl.1_Nonsense_Mutation_p.R213*|GORASP2_uc010zdm.1_Nonsense_Mutation_p.R157*|GORASP2_uc002ugl.2_Nonsense_Mutation_p.R133*|GORASP2_uc002ugm.2_5'UTR	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2	201						Golgi membrane				breast(1)|central_nervous_system(1)	2						TTATTTGCATCGAATACCTAC	0.368													T	171811194	C	T	171811194	4	4	104	1	0	0	0	0	0	1	0	0	6576	876	31	1	623	1	GORASP2	2	171811194	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	94937	171811194	71388179	1164	67778											
TLK1	9874	broad.mit.edu	37	chr2	171863007	171863007	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttaagatcataatgtataAtagggggtttgatctcattg	10	4	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:171863007A>C	uc002ugn.2	-	17	2217	c.1745T>G	c.(1744-1746)ATT>AGT	p.I582S	TLK1_uc002ugo.2_Missense_Mutation_p.I603S|TLK1_uc002ugp.2_Missense_Mutation_p.I534S|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Missense_Mutation_p.I486S	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1 isoform 1	582	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						ATAATGTATAATAGGGGGTTT	0.294													C	171863007	A	C	171863007	3	2	104	1	0	0	0	0	1	0	0	0	15940	101	4	5	575	5	TLK1	2	171863007	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	51813	171863007	71336366	1165	67779											
PDK1	5163	broad.mit.edu	37	chr2	173423516	173423516	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gactggcaaatataatgaaaGaaataagtctccttccagat	7	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:173423516G>T	uc002uhr.2	+	2	377	c.277G>T	c.(277-279)GAA>TAA	p.E93*	PDK1_uc010zdz.1_5'UTR|PDK1_uc010zea.1_RNA|PDK1_uc002uhq.1_Nonsense_Mutation_p.E93*|PDK1_uc002uhs.2_Nonsense_Mutation_p.E93*|PDK1_uc010zeb.1_Nonsense_Mutation_p.E93*	NM_002610	NP_002601	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase 1 precursor	93					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			lung(3)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TATAATGAAAGAAATAAGTCT	0.403									Autosomal_Dominant_Polycystic_Kidney_Disease				T	173423516	G	T	173423516	4	4	104	1	0	0	0	0	0	1	0	0	11675	943	33	5	283	5	PDK1	2	173423516	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1560509	173423516	69775857	1166	67780											
ZAK	51776	broad.mit.edu	37	chr2	174034590	174034590	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccagttttatggagtaattCttgaacctcccaactatggc	7	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:174034590C>A	uc002uhz.2	+	3	417	c.217C>A	c.(217-219)CTT>ATT	p.L73I	ZAK_uc002uhx.2_Missense_Mutation_p.L73I|ZAK_uc002uhy.2_Missense_Mutation_p.L73I|ZAK_uc010zei.1_5'UTR|ZAK_uc002uia.1_Missense_Mutation_p.L73I	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	73	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)			TGGAGTAATTCTTGAACCTCC	0.338													A	174034590	C	A	174034590	3	1	104	1	0	0	0	0	1	0	0	0	17509	913	32	5	223	5	ZAK	2	174034590	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	611074	174034590	69164783	1167	67781											
CDCA7	83879	broad.mit.edu	37	chr2	174228618	174228618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacatcccctcccaggctccGactcagtaagtaccagttct	7	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:174228618G>A	uc002uid.1	+	4	588	c.457G>A	c.(457-459)GAC>AAC	p.D153N	CDCA7_uc002uic.1_Missense_Mutation_p.D232N|CDCA7_uc010zej.1_Missense_Mutation_p.D188N|CDCA7_uc010zek.1_Missense_Mutation_p.D111N	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7 isoform 2	153					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.116)			CCCAGGCTCCGACTCAGTAAG	0.398													A	174228618	G	A	174228618	3	1	104	1	0	0	0	0	1	0	0	0	3090	1058	37	1	712	1	CDCA7	2	174228618	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	194028	174228618	68970755	1168	67782											
CIR1	9541	broad.mit.edu	37	chr2	175243671	175243671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgagccatcagtgggaaccGaacttgcattgattccagaa	10	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:175243671G>A	uc002uim.2	-	7	557	c.464C>T	c.(463-465)TCG>TTG	p.S155L	CIR1_uc002uin.2_Missense_Mutation_p.R20W|CIR1_uc002uio.2_5'UTR|CIR1_uc002uip.2_Missense_Mutation_p.S44L	NM_004882	NP_004873	Q86X95	CIR1_HUMAN	CBF1 interacting corepressor	155					mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			large_intestine(1)	1						AGTGGGAACCGAACTTGCATT	0.418													A	175243671	G	A	175243671	3	1	104	1	0	0	0	0	1	0	0	0	3432	1059	37	1	904	1	CIR1	2	175243671	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1015053	175243671	67955702	1169	67783											
GPR155	151556	broad.mit.edu	37	chr2	175333750	175333750	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaccaggcagaaacgtacaTgatgggagcagacacaaatg	11	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:175333750T>C	uc002uit.2	-	6	1463	c.1072A>G	c.(1072-1074)ATG>GTG	p.M358V	GPR155_uc002uiu.2_Missense_Mutation_p.M358V|GPR155_uc002uiv.2_Missense_Mutation_p.M358V|GPR155_uc010fqs.2_Missense_Mutation_p.M358V	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155 isoform 9	358	Helical; (Potential).				intracellular signal transduction|transmembrane transport	integral to membrane				ovary(1)	1						GAAACGTACATGATGGGAGCA	0.393													C	175333750	T	C	175333750	3	2	104	1	0	0	0	0	1	0	0	0	6660	1464	51	3	1588	3	GPR155	2	175333750	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	90079	175333750	67865623	1170	67784											
WIPF1	7456	broad.mit.edu	37	chr2	175431871	175431871	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatggctctggaggtggcaaAtcggaaatcggatggaagta	15	5	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:175431871A>C	uc002uiy.2	-	8	1715	c.1383T>G	c.(1381-1383)GAT>GAG	p.D461E	uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.D461E|WIPF1_uc010fqt.1_Missense_Mutation_p.D461E|WIPF1_uc002uiz.2_Missense_Mutation_p.D461E|WIPF1_uc002ujb.1_Missense_Mutation_p.D461E	NM_003387	NP_003378	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	461					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)|skin(1)	2						GAGGTGGCAAATCGGAAATCG	0.438													C	175431871	A	C	175431871	3	2	104	1	0	0	0	0	1	0	0	0	17364	98	4	5	136	5	WIPF1	2	175431871	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	98121	175431871	67767502	1171	67785											
CHRNA1	1134	broad.mit.edu	37	chr2	175618334	175618334	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggggcaggcgctgcatgacGaagtggtaggtgatgtccag	18	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:175618334G>A	uc002ujd.2	-	7	828	c.750C>T	c.(748-750)TTC>TTT	p.F250F	uc002uiw.2_Intron|CHRNA1_uc002uje.2_Silent_p.F225F|CHRNA1_uc002ujf.3_Silent_p.F225F	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	nicotinic cholinergic receptor alpha 1 isoform a	250	Extracellular.				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GCTGCATGACGAAGTGGTAGG	0.587													A	175618334	G	A	175618334	2	1	104	1	0	0	0	0	0	0	0	1	3381	1049	37	1		1	CHRNA1	2	175618334	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	186463	175618334	67581039	1172	67786											
CHN1	1123	broad.mit.edu	37	chr2	175676246	175676246	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgaaaaacatacctctgtcGaaagccatcttgacatcttc	6	11	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:175676246G>A	uc002uji.2	-	10	1487	c.957C>T	c.(955-957)TTC>TTT	p.F319F	CHN1_uc010zeq.1_Silent_p.F293F|CHN1_uc002ujj.2_Silent_p.F94F|CHN1_uc002ujg.2_Silent_p.F194F	NM_001822	NP_001813	P15882	CHIN_HUMAN	chimerin (chimaerin) 1 isoform a	319	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TACCTCTGTCGAAAGCCATCT	0.318			T	TAF15	extraskeletal myxoid chondrosarcoma								A	175676246	G	A	175676246	2	1	104	1	0	0	0	0	0	0	0	1	3362	1049	37	1		1	CHN1	2	175676246	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	57912	175676246	67523127	1173	67787											
HOXD13	3239	broad.mit.edu	37	chr2	176959337	176959337	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taacaaattcattaacaaggAcaagcggcggcgtatctcgg	10	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:176959337A>G	uc002ukf.1	+	2	998	c.911A>G	c.(910-912)GAC>GGC	p.D304G		NM_000523	NP_000514	P35453	HXD13_HUMAN	homeobox D13	304	Homeobox.				skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		ATTAACAAGGACAAGCGGCGG	0.463			T	NUP98	AML*								G	176959337	A	G	176959337	3	3	104	1	0	0	0	0	1	0	0	0	7322	275	10	3	917	3	HOXD13	2	176959337	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1283091	176959337	66240036	1174	67788											
HOXD11	3237	broad.mit.edu	37	chr2	176973735	176973735	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacgtgtacataaacaaagaGaaaagacttcaactctctcg	6	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:176973735G>A	uc002uki.2	+	2	882	c.882G>A	c.(880-882)GAG>GAA	p.E294E	HOXD11_uc010fqx.2_RNA	NM_021192	NP_067015	P31277	HXD11_HUMAN	homeobox D11	294	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		TAAACAAAGAGAAAAGACTTC	0.478			T	NUP98	AML								A	176973735	G	A	176973735	2	1	104	1	0	0	0	0	0	0	0	1	7320	933	33	4		4	HOXD11	2	176973735	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	14398	176973735	66225638	1175	67789											
HNRNPA3	220988	broad.mit.edu	37	chr2	178081278	178081278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataattgtgaagtgaaaaagGccctttctaaacaagagatg	9	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:178081278G>A	uc002ulb.1	+	5	707	c.601G>A	c.(601-603)GCC>ACC	p.A201T	HNRNPA3_uc002ulc.1_Missense_Mutation_p.A201T|HNRNPA3_uc002uld.2_Missense_Mutation_p.A179T|HNRNPA3_uc002ule.2_5'Flank	NM_194247	NP_919223	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	201	RRM 2.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			ovary(2)	2						AGTGAAAAAGGCCCTTTCTAA	0.343													A	178081278	G	A	178081278	3	1	104	1	0	0	0	0	1	0	0	0	7260	1203	42	2	619	2	HNRNPA3	2	178081278	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1107543	178081278	65118095	1176	67790											
TTC30B	150737	broad.mit.edu	37	chr2	178416077	178416077	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcttctttgtatttgtttTcctgcatgaacagaacatga	8	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:178416077T>G	uc002uln.2	-	1	1448	c.1415A>C	c.(1414-1416)GAA>GCA	p.E472A	TTC30B_uc010zfc.1_Missense_Mutation_p.E244A	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	472	TPR 7.				cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GTATTTGTTTTCCTGCATGAA	0.388													G	178416077	T	G	178416077	3	3	104	1	0	0	0	0	1	0	0	0	16696	1783	62	5	586	5	TTC30B	2	178416077	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	334799	178416077	64783296	1177	67791											
TTC30B	150737	broad.mit.edu	37	chr2	178416157	178416157	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccacagatttgcggaagatCttttccaccattggataatt	7	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:178416157C>A	uc002uln.2	-	1	1368	c.1335G>T	c.(1333-1335)AAG>AAT	p.K445N	TTC30B_uc010zfc.1_Missense_Mutation_p.K217N	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	445	TPR 6.				cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TGCGGAAGATCTTTTCCACCA	0.388													A	178416157	C	A	178416157	3	1	104	1	0	0	0	0	1	0	0	0	16696	912	32	5	666	5	TTC30B	2	178416157	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	80	178416157	64783216	1178	67792											
TTC30B	150737	broad.mit.edu	37	chr2	178416244	178416244	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatttctccatggtttcatcAtattcattcactgccttttt	3	10	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:178416244A>G	uc002uln.2	-	1	1281	c.1248T>C	c.(1246-1248)TAT>TAC	p.Y416Y	TTC30B_uc010zfc.1_Silent_p.Y188Y	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	416	TPR 5.				cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TGGTTTCATCATATTCATTCA	0.403													G	178416244	A	G	178416244	2	3	104	1	0	0	0	0	0	0	0	1	16696	224	8	3		3	TTC30B	2	178416244	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	87	178416244	64783129	1179	67793											
PDE11A	50940	broad.mit.edu	37	chr2	178879182	178879182	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgatttcatcattgaatcgTcgatcctaaaaataagacaa	5	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:178879182T>C	uc002ulq.2	-	2	1236	c.918A>G	c.(916-918)CGA>CGG	p.R306R	PDE11A_uc002ulr.2_Silent_p.R56R|PDE11A_uc002ult.1_Silent_p.R56R	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	306	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CATTGAATCGTCGATCCTAAA	0.398									Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				C	178879182	T	C	178879182	2	2	104	1	0	0	0	0	0	0	0	1	11631	1654	58	3		3	PDE11A	2	178879182	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	462938	178879182	64320191	1180	67794											
PDE11A	50940	broad.mit.edu	37	chr2	178969129	178969129	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtcttgtgattttcaccTttttccactgtgtggcactg	8	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:178969129T>G	uc002ulr.2	-	2	161	c.62A>C	c.(61-63)AAG>ACG	p.K21T	PDE11A_uc002ult.1_Missense_Mutation_p.K21T	NM_001077197	NP_001070665	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 3	Error:Variant_position_missing_in_Q9HCR9_after_alignment					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GATTTTCACCTTTTTCCACTG	0.423									Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				G	178969129	T	G	178969129	3	3	104	1	0	0	0	0	1	0	0	0	11631	1609	56	5	2985	5	PDE11A	2	178969129	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	89947	178969129	64230244	1181	67795											
OSBPL6	114880	broad.mit.edu	37	chr2	179193050	179193050	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgtccagaaaccagacaAacatgagggctttatgctga	9	9	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179193050A>C	uc002ulx.2	+	5	641	c.263A>C	c.(262-264)AAA>ACA	p.K88T	OSBPL6_uc002ulw.2_Missense_Mutation_p.K88T|OSBPL6_uc002uly.2_Missense_Mutation_p.K88T|OSBPL6_uc010zfe.1_Missense_Mutation_p.K88T|OSBPL6_uc002ulz.2_Missense_Mutation_p.K88T|OSBPL6_uc002uma.2_Missense_Mutation_p.K67T	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	88	PH.				lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AAACCAGACAAACATGAGGGC	0.373													C	179193050	A	C	179193050	3	2	104	1	0	0	0	0	1	0	0	0	11281	14	1	5	316	5	OSBPL6	2	179193050	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	223921	179193050	64006323	1182	67796											
OSBPL6	114880	broad.mit.edu	37	chr2	179197688	179197688	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaattgtgagatcaccaagaGatgctagttttcacatattt	7	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179197688G>T	uc002ulx.2	+	8	955	c.577G>T	c.(577-579)GAT>TAT	p.D193Y	OSBPL6_uc002ulw.2_Missense_Mutation_p.D193Y|OSBPL6_uc002uly.2_Missense_Mutation_p.D193Y|OSBPL6_uc010zfe.1_Missense_Mutation_p.D193Y|OSBPL6_uc002ulz.2_Missense_Mutation_p.D193Y|OSBPL6_uc002uma.2_Missense_Mutation_p.D172Y	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	193					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			ATCACCAAGAGATGCTAGTTT	0.408													T	179197688	G	T	179197688	3	4	104	1	0	0	0	0	1	0	0	0	11281	942	33	5	642	5	OSBPL6	2	179197688	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4638	179197688	64001685	1183	67797											
OSBPL6	114880	broad.mit.edu	37	chr2	179236941	179236941	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggttgtcagtgtaaataTtattcctagccctgatgagg	10	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179236941T>G	uc002ulx.2	+	14	1754	c.1376T>G	c.(1375-1377)ATT>AGT	p.I459S	OSBPL6_uc002ulw.2_Intron|OSBPL6_uc002uly.2_Missense_Mutation_p.I484S|OSBPL6_uc010zfe.1_Missense_Mutation_p.I428S|OSBPL6_uc002ulz.2_Intron|OSBPL6_uc002uma.2_Missense_Mutation_p.I463S	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	459					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGTGTAAATATTATTCCTAGC	0.323													G	179236941	T	G	179236941	3	3	104	1	0	0	0	0	1	0	0	0	11281	1493	52	5	1544	5	OSBPL6	2	179236941	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	39253	179236941	63962432	1184	67798											
OSBPL6	114880	broad.mit.edu	37	chr2	179260240	179260240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgacacctactgggagcttcGaaaggaccctgggtttagca	12	11	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179260240G>A	uc002ulx.2	+	25	3137	c.2759G>A	c.(2758-2760)CGA>CAA	p.R920Q	OSBPL6_uc002uly.2_Missense_Mutation_p.R945Q|OSBPL6_uc010zfe.1_Missense_Mutation_p.R889Q|OSBPL6_uc002ulz.2_Missense_Mutation_p.R884Q|OSBPL6_uc002uma.2_Missense_Mutation_p.R924Q	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	920					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TGGGAGCTTCGAAAGGACCCT	0.393													A	179260240	G	A	179260240	3	1	104	1	0	0	0	0	1	0	0	0	11281	1058	37	1	2971	1	OSBPL6	2	179260240	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	23299	179260240	63939133	1185	67799											
TTN	7273	broad.mit.edu	37	chr2	179393423	179393423	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaatcatactgacacttgacGattccttccttggttttgct	6	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179393423G>A	uc010zfg.1	-	309	99575	c.99351C>T	c.(99349-99351)ATC>ATT	p.I33117I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I26812I|TTN_uc010zfi.1_Silent_p.I26745I|TTN_uc010zfj.1_Silent_p.I26620I|TTN_uc002umq.2_Silent_p.I134I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	34044							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACACTTGACGATTCCTTCCT	0.443													A	179393423	G	A	179393423	2	1	104	1	0	0	0	0	0	0	0	1	16732	1048	37	1		1	TTN	2	179393423	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	133183	179393423	63805950	1186	67800											
TTN	7273	broad.mit.edu	37	chr2	179398239	179398239	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcattctgcatttgccagtAaccttttgaacatgggtctt	9	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179398239A>C	uc010zfg.1	-	307	95623	c.95399T>G	c.(95398-95400)TTA>TGA	p.L31800*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.L25495*|TTN_uc010zfi.1_Nonsense_Mutation_p.L25428*|TTN_uc010zfj.1_Nonsense_Mutation_p.L25303*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32727							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTGCCAGTAACCTTTTGAA	0.458													C	179398239	A	C	179398239	4	2	104	1	0	0	0	0	0	1	0	0	16732	372	13	5	4896	5	TTN	2	179398239	Nonsense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	4816	179398239	63801134	1187	67801											
TTN	7273	broad.mit.edu	37	chr2	179418747	179418747	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtcactgttttctgtgagTcctgttactttttgtctggt	9	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179418747T>C	uc010zfg.1	-	282	81611	c.81387A>G	c.(81385-81387)GGA>GGG	p.G27129G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G20824G|TTN_uc010zfi.1_Silent_p.G20757G|TTN_uc010zfj.1_Silent_p.G20632G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28056							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTGTGAGTCCTGTTACTT	0.403													C	179418747	T	C	179418747	2	2	104	1	0	0	0	0	0	0	0	1	16732	1654	58	3		3	TTN	2	179418747	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	20508	179418747	63780626	1188	67802											
TTN	7273	broad.mit.edu	37	chr2	179427058	179427058	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgttaactgcagctaccctgAagacatactcttctcctgca	6	14	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179427058A>G	uc010zfg.1	-	275	76321	c.76097T>C	c.(76096-76098)TTC>TCC	p.F25366S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.F19061S|TTN_uc010zfi.1_Missense_Mutation_p.F18994S|TTN_uc010zfj.1_Missense_Mutation_p.F18869S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26293							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTACCCTGAAGACATACTC	0.428													G	179427058	A	G	179427058	3	3	104	1	0	0	0	0	1	0	0	0	16732	246	9	3	24326	3	TTN	2	179427058	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	8311	179427058	63772315	1189	67803											
TTN	7273	broad.mit.edu	37	chr2	179431219	179431219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagttttgaaatttcaaatCgagtgactctcaggccagtc	9	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179431219C>T	uc010zfg.1	-	275	72160	c.71936G>A	c.(71935-71937)CGA>CAA	p.R23979Q	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R17674Q|TTN_uc010zfi.1_Missense_Mutation_p.R17607Q|TTN_uc010zfj.1_Missense_Mutation_p.R17482Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24906							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTCAAATCGAGTGACTCT	0.423													T	179431219	C	T	179431219	3	4	104	1	0	0	0	0	1	0	0	0	16732	884	31	1	28487	1	TTN	2	179431219	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4161	179431219	63768154	1190	67804											
TTN	7273	broad.mit.edu	37	chr2	179433949	179433949	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcttcacgtttctcaacaAtgtaattttttattttggat	6	6	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179433949A>C	uc010zfg.1	-	275	69430	c.69206T>G	c.(69205-69207)ATT>AGT	p.I23069S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I16764S|TTN_uc010zfi.1_Missense_Mutation_p.I16697S|TTN_uc010zfj.1_Missense_Mutation_p.I16572S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23996							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTCAACAATGTAATTTTT	0.393													C	179433949	A	C	179433949	3	2	104	1	0	0	0	0	1	0	0	0	16732	101	4	5	31217	5	TTN	2	179433949	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2730	179433949	63765424	1191	67805											
TTN	7273	broad.mit.edu	37	chr2	179438397	179438397	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtactatgtaatgatcaatTttggcacctccatcatccag	6	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179438397T>G	uc010zfg.1	-	275	64982	c.64758A>C	c.(64756-64758)AAA>AAC	p.K21586N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K15281N|TTN_uc010zfi.1_Missense_Mutation_p.K15214N|TTN_uc010zfj.1_Missense_Mutation_p.K15089N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22513							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGATCAATTTTGGCACCTC	0.443													G	179438397	T	G	179438397	3	3	104	1	0	0	0	0	1	0	0	0	16732	1838	64	5	35665	5	TTN	2	179438397	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	4448	179438397	63760976	1192	67806											
TTN	7273	broad.mit.edu	37	chr2	179438979	179438979	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaaggtctctcttttcaacGatataactggtaattttaaa	7	6	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179438979G>A	uc010zfg.1	-	275	64400	c.64176C>T	c.(64174-64176)ATC>ATT	p.I21392I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I15087I|TTN_uc010zfi.1_Silent_p.I15020I|TTN_uc010zfj.1_Silent_p.I14895I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22319							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTTCAACGATATAACTGG	0.413													A	179438979	G	A	179438979	2	1	104	1	0	0	0	0	0	0	0	1	16732	1048	37	1		1	TTN	2	179438979	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	582	179438979	63760394	1193	67807											
TTN	7273	broad.mit.edu	37	chr2	179442082	179442082	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggttgaagttatctgagTgatatctgatggtctaatgt	13	3	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179442082T>C	uc010zfg.1	-	273	61500	c.61276A>G	c.(61276-61278)ACT>GCT	p.T20426A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T14121A|TTN_uc010zfi.1_Missense_Mutation_p.T14054A|TTN_uc010zfj.1_Missense_Mutation_p.T13929A|uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21353							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTATCTGAGTGATATCTGAT	0.418													C	179442082	T	C	179442082	3	2	104	1	0	0	0	0	1	0	0	0	16732	1696	59	3	39155	3	TTN	2	179442082	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	3103	179442082	63757291	1194	67808											
TTN	7273	broad.mit.edu	37	chr2	179446661	179446661	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccgagcataagcggccttGgatgcgtcactgggtttgcc	13	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179446661G>T	uc010zfg.1	-	264	58955	c.58731C>A	c.(58729-58731)TCC>TCA	p.S19577S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S13272S|TTN_uc010zfi.1_Silent_p.S13205S|TTN_uc010zfj.1_Silent_p.S13080S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20504							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGCGGCCTTGGATGCGTCAC	0.438													T	179446661	G	T	179446661	2	4	104	1	0	0	0	0	0	0	0	1	16732	1335	47	5		5	TTN	2	179446661	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4579	179446661	63752712	1195	67809											
TTN	7273	broad.mit.edu	37	chr2	179449185	179449185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaactgtttctttccttgCgttcaatcagataaccaata	5	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179449185C>T	uc010zfg.1	-	260	57613	c.57389G>A	c.(57388-57390)CGC>CAC	p.R19130H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R12825H|TTN_uc010zfi.1_Missense_Mutation_p.R12758H|TTN_uc010zfj.1_Missense_Mutation_p.R12633H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20057							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTCCTTGCGTTCAATCAG	0.443													T	179449185	C	T	179449185	3	4	104	1	0	0	0	0	1	0	0	0	16732	768	27	1	43094	1	TTN	2	179449185	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2524	179449185	63750188	1196	67810											
TTN	7273	broad.mit.edu	37	chr2	179469823	179469823	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgggaatgctaagctcagtTtttgcctcacttcgggatac	10	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179469823T>G	uc010zfg.1	-	229	46601	c.46377A>C	c.(46375-46377)AAA>AAC	p.K15459N	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K9154N|TTN_uc010zfi.1_Missense_Mutation_p.K9087N|TTN_uc010zfj.1_Missense_Mutation_p.K8962N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16386							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAGCTCAGTTTTTGCCTCAC	0.453													G	179469823	T	G	179469823	3	3	104	1	0	0	0	0	1	0	0	0	16732	1838	64	5	53944	5	TTN	2	179469823	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	20638	179469823	63729550	1197	67811											
TTN	7273	broad.mit.edu	37	chr2	179485561	179485561	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgagggtgtagactaggTctttttggagaatgatgtat	13	3	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179485561T>C	uc010zfg.1	-	196	38296	c.38072A>G	c.(38071-38073)GAC>GGC	p.D12691G	TTN_uc010zfh.1_Missense_Mutation_p.D6386G|TTN_uc010zfi.1_Missense_Mutation_p.D6319G|TTN_uc010zfj.1_Missense_Mutation_p.D6194G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13618							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGACTAGGTCTTTTTGGAG	0.373													C	179485561	T	C	179485561	3	2	104	1	0	0	0	0	1	0	0	0	16732	1667	58	3	62381	3	TTN	2	179485561	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	15738	179485561	63713812	1198	67812											
TTN	7273	broad.mit.edu	37	chr2	179485594	179485594	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtattttgaactatcaAatatagcttcttcatttctg	5	6	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179485594A>C	uc010zfg.1	-	196	38263	c.38039T>G	c.(38038-38040)TTT>TGT	p.F12680C	TTN_uc010zfh.1_Missense_Mutation_p.F6375C|TTN_uc010zfi.1_Missense_Mutation_p.F6308C|TTN_uc010zfj.1_Missense_Mutation_p.F6183C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13607							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAACTATCAAATATAGCTTC	0.398													C	179485594	A	C	179485594	3	2	104	1	0	0	0	0	1	0	0	0	16732	14	1	5	62414	5	TTN	2	179485594	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	33	179485594	63713779	1199	67813											
TTN	7273	broad.mit.edu	37	chr2	179495649	179495649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctccacactgtgcaggggtCgcaccagtttaatttcccga	9	14	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179495649C>T	uc010zfg.1	-	187	36556	c.36332G>A	c.(36331-36333)CGA>CAA	p.R12111Q	TTN_uc010zfh.1_Missense_Mutation_p.R5806Q|TTN_uc010zfi.1_Missense_Mutation_p.R5739Q|TTN_uc010zfj.1_Missense_Mutation_p.R5614Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13038							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGCAGGGGTCGCACCAGTTT	0.488													T	179495649	C	T	179495649	3	4	104	1	0	0	0	0	1	0	0	0	16732	884	31	1	64157	1	TTN	2	179495649	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	10055	179495649	63703724	1200	67814											
TTN	7273	broad.mit.edu	37	chr2	179496966	179496966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaggtctttgaatgtgatcGaatgagttttcccttcgtct	9	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179496966G>A	uc010zfg.1	-	185	36175	c.35951C>T	c.(35950-35952)TCG>TTG	p.S11984L	TTN_uc010zfh.1_Missense_Mutation_p.S5679L|TTN_uc010zfi.1_Missense_Mutation_p.S5612L|TTN_uc010zfj.1_Missense_Mutation_p.S5487L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12911							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATGTGATCGAATGAGTTTT	0.443													A	179496966	G	A	179496966	3	1	104	1	0	0	0	0	1	0	0	0	16732	1059	37	1	64546	1	TTN	2	179496966	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1317	179496966	63702407	1201	67815											
TTN	7273	broad.mit.edu	37	chr2	179528389	179528389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaggctctttaggaggaGccactggcgctttcttttca	10	11	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179528389G>A	uc010zfk.1	-	16	1483	c.935C>T	c.(934-936)GCT>GTT	p.A312V	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron			Q8WZ42	TITIN_HUMAN	SubName: Full=Titin; Flags: Fragment;	11524							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAGGAGGAGCCACTGGCGC	0.393													A	179528389	G	A	179528389	3	1	104	1	0	0	0	0	1	0	0	0	16732	986	34	2		2	TTN	2	179528389	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	31423	179528389	63670984	1202	67816											
TTN	7273	broad.mit.edu	37	chr2	179537380	179537381	+	Frame_Shift_Ins	INS	-	-	T													cctttggctgggggtgcctcINSttttttctgaacaggaacag							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179537380_179537381insT	uc010zfg.1	-	148	31157_31158	c.30933_30934insA	c.(30931-30936)AAAGAGfs	p.K10311fs	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Frame_Shift_Ins_p.K6972fs|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_RNA|TTN_uc010frf.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11238_11239							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGGGTGCCTCTTTTTTCTGAA	0.361													T	179537381	-	T	179537380	7	5	104	1	0	1	1	0	0	0	0	0	16732	922	32	0	69711	0	TTN	2	179537380	Frame_Shift_Ins	INS	-	TCGA-BR-8680-01A-11D-2394-08	8991	179537380	63661993	1203	67817	314	2									
TTN	7273	broad.mit.edu	37	chr2	179537381	179537382	+	Frame_Shift_Ins	INS	-	-	T													ctttggctgggggtgcctctINStttttctgaacaggaacagg							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179537380_179537381C>CT	uc021vsy.1	-	147	31158_31159	c.30933_30934G>AG	c.(30931-30936)aaagagfs	p.K10311fs	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Frame_Shift_Ins_p.K6972fs|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11238	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGGGTGCCTCTTTTTTCTGAA	0.361													T	179537382	-	T	179537381	7	5	104	1	0	1	1	0	0	0	0	0	16732	1606	56	0	69712	0	TTN	2	179537381	Frame_Shift_Ins	INS	-	TCGA-BR-8680-01A-11D-2394-08	1	179537381	63661992	1204	67818	314	2									
TTN	7273	broad.mit.edu	37	chr2	179547583	179547583	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccgttgtactgaaacagcttCttcttctagggtataagccc	8	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179547583C>A	uc010zfg.1	-	132	29427	c.29203G>T	c.(29203-29205)GAA>TAA	p.E9735*	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.E6396*|TTN_uc010fre.1_Nonsense_Mutation_p.E582*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10662							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAACAGCTTCTTCTTCTAGG	0.328													A	179547583	C	A	179547583	4	1	104	1	0	0	0	0	0	1	0	0	16732	922	32	5	71506	5	TTN	2	179547583	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	10202	179547583	63651790	1205	67819											
TTN	7273	broad.mit.edu	37	chr2	179549099	179549099	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttttttagttacagcaacaaGaactttttcttcctgggtaa	6	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179549099G>T	uc010zfg.1	-	129	29172	c.28948C>A	c.(28948-28950)CTT>ATT	p.L9650I	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L6311I|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10577							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGCAACAAGAACTTTTTCT	0.373													T	179549099	G	T	179549099	3	4	104	1	0	0	0	0	1	0	0	0	16732	942	33	5	71773	5	TTN	2	179549099	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1516	179549099	63650274	1206	67820											
TTN	7273	broad.mit.edu	37	chr2	179567308	179567308	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttacaatggcatcatcaaaGgacacttcacactcaaaggt	7	10	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179567308G>T	uc010zfg.1	-	104	26798	c.26574C>A	c.(26572-26574)TCC>TCA	p.S8858S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S5519S|TTN_uc010fre.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9785							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCATCAAAGGACACTTCAC	0.438													T	179567308	G	T	179567308	2	4	104	1	0	0	0	0	0	0	0	1	16732	987	35	5		5	TTN	2	179567308	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	18209	179567308	63632065	1207	67821											
TTN	7273	broad.mit.edu	37	chr2	179569059	179569059	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagattttacatttggtacaGaaaattggcatgtcatggtg	10	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179569059G>T	uc010zfg.1	-	103	26530	c.26306C>A	c.(26305-26307)TCT>TAT	p.S8769Y	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S5430Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9696							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTGGTACAGAAAATTGGCA	0.423													T	179569059	G	T	179569059	3	4	104	1	0	0	0	0	1	0	0	0	16732	942	33	5	74519	5	TTN	2	179569059	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1751	179569059	63630314	1208	67822											
TTN	7273	broad.mit.edu	37	chr2	179575894	179575894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttttaaaaatattgagtgTggctgtattgtctaaaaatg	9	2	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179575894T>C	uc010zfg.1	-	94	24561	c.24337A>G	c.(24337-24339)ACA>GCA	p.T8113A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T4774A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9040							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATTGAGTGTGGCTGTATTG	0.443													C	179575894	T	C	179575894	3	2	104	1	0	0	0	0	1	0	0	0	16732	1696	59	3	76524	3	TTN	2	179575894	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	6835	179575894	63623479	1209	67823											
TTN	7273	broad.mit.edu	37	chr2	179579257	179579257	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgaacttctttaccaacGacagtagatatgtcactgag	8	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179579257G>A	uc010zfg.1	-	88	22736	c.22512C>T	c.(22510-22512)GTC>GTT	p.V7504V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V4165V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8431							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTACCAACGACAGTAGATA	0.423													A	179579257	G	A	179579257	2	1	104	1	0	0	0	0	0	0	0	1	16732	1045	37	1		1	TTN	2	179579257	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3363	179579257	63620116	1210	67824											
TTN	7273	broad.mit.edu	37	chr2	179581897	179581897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaggtgtactgcccggcatCgcctttgcctactttgagaa	11	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179581897C>T	uc010zfg.1	-	85	22056	c.21832G>A	c.(21832-21834)GAT>AAT	p.D7278N	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D3939N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8205							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCCGGCATCGCCTTTGCCT	0.488													T	179581897	C	T	179581897	3	4	104	1	0	0	0	0	1	0	0	0	16732	884	31	1	79065	1	TTN	2	179581897	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2640	179581897	63617476	1211	67825											
TTN	7273	broad.mit.edu	37	chr2	179589096	179589096	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagagaatccttaaggaagaGattttgttgtagaagctaaa	11	3	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179589096G>T	uc010zfg.1	-	69	17498	c.17274C>A	c.(17272-17274)ATC>ATA	p.I5758I	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.I2419I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6685							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAAGGAAGAGATTTTGTTGT	0.443													T	179589096	G	T	179589096	2	4	104	1	0	0	0	0	0	0	0	1	16732	932	33	5		5	TTN	2	179589096	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	7199	179589096	63610277	1212	67826											
TTN	7273	broad.mit.edu	37	chr2	179593390	179593390	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggaactatttgtttcccGtctttaagccatttcacttt	6	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179593390G>T	uc010zfg.1	-	63	15755	c.15531C>A	c.(15529-15531)GAC>GAA	p.D5177E	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1838E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6104							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTTTCCCGTCTTTAAGCC	0.403													T	179593390	G	T	179593390	3	4	104	1	0	0	0	0	1	0	0	0	16732	1136	40	5	85454	5	TTN	2	179593390	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4294	179593390	63605983	1213	67827											
TTN	7273	broad.mit.edu	37	chr2	179596150	179596150	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacaaactggccacattgttCtcaaaggtcattcttatatt	5	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179596150C>T	uc010zfg.1	-	56	13835	c.13611G>A	c.(13609-13611)GAG>GAA	p.E4537E	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.E1198E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5464							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACATTGTTCTCAAAGGTCA	0.438													T	179596150	C	T	179596150	2	4	104	1	0	0	0	0	0	0	0	1	16732	912	32	4		4	TTN	2	179596150	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2760	179596150	63603223	1214	67828											
TTN	7273	broad.mit.edu	37	chr2	179605416	179605416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcacttgggaagattttctCggtatctgatagaactgcct	11	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179605416C>T	uc010zfh.1	-	46	12255	c.12031G>A	c.(12031-12033)GAG>AAG	p.E4011K	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E3944K|TTN_uc010zfj.1_Missense_Mutation_p.E3819K|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	3939							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGATTTTCTCGGTATCTGAT	0.413													T	179605416	C	T	179605416	3	4	104	1	0	0	0	0	1	0	0	0	16732	893	31	1	92245	1	TTN	2	179605416	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	9266	179605416	63593957	1215	67829											
TTN	7273	broad.mit.edu	37	chr2	179606118	179606118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaagcccttgagcacagcGaattggttttaactccttaa	9	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179606118G>A	uc010zfh.1	-	46	11553	c.11329C>T	c.(11329-11331)CGC>TGC	p.R3777C	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.R3710C|TTN_uc010zfj.1_Missense_Mutation_p.R3585C|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGCACAGCGAATTGGTTTT	0.483													A	179606118	G	A	179606118	3	1	104	1	0	0	0	0	1	0	0	0	16732	1058	37	1	92947	1	TTN	2	179606118	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	702	179606118	63593255	1216	67830											
TTN	7273	broad.mit.edu	37	chr2	179606407	179606407	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actccattaaagaaccactgAattttaggtttggggatgcc	9	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179606407A>C	uc010zfh.1	-	46	11264	c.11040T>G	c.(11038-11040)ATT>ATG	p.I3680M	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.I3613M|TTN_uc010zfj.1_Missense_Mutation_p.I3488M|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAACCACTGAATTTTAGGTT	0.413													C	179606407	A	C	179606407	3	2	104	1	0	0	0	0	1	0	0	0	16732	242	9	5	93236	5	TTN	2	179606407	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	289	179606407	63592966	1217	67831											
TTN	7273	broad.mit.edu	37	chr2	179610839	179610839	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgacttcccttctcctcgcTaatcacgtatttaatattat	4	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179610839T>C	uc002unb.2	-	46	16512	c.16288A>G	c.(16288-16290)AGC>GGC	p.S5430G	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTCCTCGCTAATCACGTAT	0.393													C	179610839	T	C	179610839	3	2	104	1	0	0	0	0	1	0	0	0	16732	1522	53	3	94009	3	TTN	2	179610839	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	4432	179610839	63588534	1218	67832											
TTN	7273	broad.mit.edu	37	chr2	179613827	179613827	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaatggcagatgaatcttTtgtattgtaactgtcagaaa	8	5	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179613827T>G	uc002unb.2	-	46	13524	c.13300A>C	c.(13300-13302)AAA>CAA	p.K4434Q	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGAATCTTTTGTATTGTAA	0.343													G	179613827	T	G	179613827	3	3	104	1	0	0	0	0	1	0	0	0	16732	1850	64	5	96997	5	TTN	2	179613827	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2988	179613827	63585546	1219	67833											
TTN	7273	broad.mit.edu	37	chr2	179632515	179632515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttttaatacttcggatgcGaacatctctgccttctacaa	5	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179632515G>A	uc010zfg.1	-	40	9666	c.9442C>T	c.(9442-9444)CGC>TGC	p.R3148C	TTN_uc010zfh.1_Missense_Mutation_p.R3102C|TTN_uc010zfi.1_Missense_Mutation_p.R3102C|TTN_uc010zfj.1_Missense_Mutation_p.R3102C|TTN_uc002unb.2_Missense_Mutation_p.R3148C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3148							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCGGATGCGAACATCTCTG	0.398													A	179632515	G	A	179632515	3	1	104	1	0	0	0	0	1	0	0	0	16732	1058	37	1	101838	1	TTN	2	179632515	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	18688	179632515	63566858	1220	67834											
TTN	7273	broad.mit.edu	37	chr2	179638812	179638812	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagactttttggtcactaagTccttgtaggatagcaatggg	11	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179638812T>C	uc010zfg.1	-	31	7307	c.7083A>G	c.(7081-7083)GGA>GGG	p.G2361G	TTN_uc010zfh.1_Silent_p.G2315G|TTN_uc010zfi.1_Silent_p.G2315G|TTN_uc010zfj.1_Silent_p.G2315G|TTN_uc002unb.2_Silent_p.G2361G|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2361							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTCACTAAGTCCTTGTAGGA	0.428													C	179638812	T	C	179638812	2	2	104	1	0	0	0	0	0	0	0	1	16732	1654	58	3		3	TTN	2	179638812	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	6297	179638812	63560561	1221	67835											
TTN	7273	broad.mit.edu	37	chr2	179643841	179643841	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttgccatctttgtaccaaGcaatctgcaaagaataccat	6	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179643841G>T	uc010zfg.1	-	24	4192	c.3968C>A	c.(3967-3969)GCT>GAT	p.A1323D	TTN_uc010zfh.1_Missense_Mutation_p.A1277D|TTN_uc010zfi.1_Missense_Mutation_p.A1277D|TTN_uc010zfj.1_Missense_Mutation_p.A1277D|TTN_uc002unb.2_Missense_Mutation_p.A1323D|uc002unc.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1323							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTACCAAGCAATCTGCAA	0.358													T	179643841	G	T	179643841	3	4	104	1	0	0	0	0	1	0	0	0	16732	971	34	5	107376	5	TTN	2	179643841	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5029	179643841	63555532	1222	67836											
TTN	7273	broad.mit.edu	37	chr2	179647545	179647545	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccactaaccctgcacagccaGatagcaggatgtgctgacgg	11	13	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179647545G>A	uc010zfg.1	-	18	3312	c.3088C>T	c.(3088-3090)CTG>TTG	p.L1030L	TTN_uc010zfh.1_Silent_p.L984L|TTN_uc010zfi.1_Silent_p.L984L|TTN_uc010zfj.1_Silent_p.L984L|TTN_uc002unb.2_Silent_p.L1030L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1030							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCACAGCCAGATAGCAGGAT	0.498													A	179647545	G	A	179647545	2	1	104	1	0	0	0	0	0	0	0	1	16732	933	33	4		4	TTN	2	179647545	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3704	179647545	63551828	1223	67837											
CCDC141	285025	broad.mit.edu	37	chr2	179701651	179701651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggctctggaaatcctgttActtcaacttccaaagtcact	6	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:179701651A>G	uc002unf.1	-	13	2627	c.2570T>C	c.(2569-2571)GTA>GCA	p.V857A	CCDC141_uc002une.1_Missense_Mutation_p.V307A	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	857	Ig-like.						protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AAATCCTGTTACTTCAACTTC	0.448													G	179701651	A	G	179701651	3	3	104	1	0	0	0	0	1	0	0	0	2775	391	14	3	61	3	CCDC141	2	179701651	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	54106	179701651	63497722	1224	67838											
ZNF385B	151126	broad.mit.edu	37	chr2	180348096	180348096	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accattttgggtttatttttCgttgcgtctagtgctttgac	9	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:180348096C>T	uc002unn.3	-	6	1177	c.573G>A	c.(571-573)ACG>ACA	p.T191T	ZNF385B_uc002unj.2_Silent_p.T89T|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Silent_p.T88T|ZNF385B_uc002unm.2_Silent_p.T115T	NM_152520	NP_689733	Q569K4	Z385B_HUMAN	zinc finger protein 385B isoform 1	191						nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GTTTATTTTTCGTTGCGTCTA	0.468													T	180348096	C	T	180348096	2	4	104	1	0	0	0	0	0	0	0	1	17874	871	31	1		1	ZNF385B	2	180348096	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	646445	180348096	62851277	1225	67839											
CWC22	57703	broad.mit.edu	37	chr2	180810175	180810175	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgcatttcttggtctctgTcattcgcaactctactgtag	7	10	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:180810175T>C	uc010frh.1	-	20	2708	c.2408A>G	c.(2407-2409)GAC>GGC	p.D803G	CWC22_uc002uno.2_Missense_Mutation_p.D325G|CWC22_uc002unp.2_Missense_Mutation_p.D803G	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog	803						catalytic step 2 spliceosome	protein binding|RNA binding				0						TTGGTCTCTGTCATTCGCAAC	0.353													C	180810175	T	C	180810175	3	2	104	1	0	0	0	0	1	0	0	0	4068	1667	58	3	322	3	CWC22	2	180810175	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	462079	180810175	62389198	1226	67840											
ZNF804A	91752	broad.mit.edu	37	chr2	185801356	185801356	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggttaacataactatAcataagaaaacaaatttctg	6	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:185801356A>G	uc002uph.2	+	4	1827	c.1233A>G	c.(1231-1233)ATA>ATG	p.I411M		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	411						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						ACATAACTATACATAAGAAAA	0.383													G	185801356	A	G	185801356	3	3	104	1	0	0	0	0	1	0	0	0	18167	381	14	3	1247	3	ZNF804A	2	185801356	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	4991181	185801356	57398017	1227	67841											
FAM171B	165215	broad.mit.edu	37	chr2	187626873	187626873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacagcccccagatgccaggGaagaggatatcatacttgaa	10	11	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:187626873G>A	uc002ups.2	+	8	1916	c.1804G>A	c.(1804-1806)GAA>AAA	p.E602K	FAM171B_uc002upr.1_Missense_Mutation_p.E569K|FAM171B_uc002upt.2_Missense_Mutation_p.E71K	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	602	Cytoplasmic (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						AGATGCCAGGGAAGAGGATAT	0.493													A	187626873	G	A	187626873	3	1	104	1	0	0	0	0	1	0	0	0	5491	1175	41	4	1834	4	FAM171B	2	187626873	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1825517	187626873	55572500	1228	67842											
ZSWIM2	151112	broad.mit.edu	37	chr2	187693422	187693422	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtccattcactgctgaAtttttccaagttaaagggtt	8	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:187693422A>G	uc002upu.1	-	9	1231	c.1191T>C	c.(1189-1191)AAT>AAC	p.N397N		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	397					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TCACTGCTGAATTTTTCCAAG	0.363													G	187693422	A	G	187693422	2	3	104	1	0	0	0	0	0	0	0	1	18238	98	4	3		3	ZSWIM2	2	187693422	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	66549	187693422	55505951	1229	67843											
COL5A2	1290	broad.mit.edu	37	chr2	189899735	189899735	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttgagaaccacagctttTttgaggttcttagcttgatc	8	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:189899735T>G	uc002uqk.2	-	53	4535	c.4260A>C	c.(4258-4260)AAA>AAC	p.K1420N	COL5A2_uc010frx.2_Missense_Mutation_p.K996N	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1420	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCACAGCTTTTTTGAGGTTCT	0.388													G	189899735	T	G	189899735	3	3	104	1	0	0	0	0	1	0	0	0	3697	1838	64	5	247	5	COL5A2	2	189899735	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2206313	189899735	53299638	1230	67844											
ANKAR	150709	broad.mit.edu	37	chr2	190602514	190602514	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taatgaccatatctatttttGaacgttttcttgaatcaaca	4	7	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:190602514G>A	uc002uqw.1	+	17	3316	c.3316G>A	c.(3316-3318)GAA>AAA	p.E1106K	ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA|ANKAR_uc002uqy.1_Missense_Mutation_p.E273K	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1177						integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ATCTATTTTTGAACGTTTTCT	0.313													A	190602514	G	A	190602514	3	1	104	1	0	0	0	0	1	0	0	0	623	1291	45	4	3595	4	ANKAR	2	190602514	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	702779	190602514	52596859	1231	67845											
ANKAR	150709	broad.mit.edu	37	chr2	190611312	190611312	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttgaaccaacttgggAaacatgtccagaaagccaac	9	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:190611312A>G	uc002uqw.1	+	22	4051	c.4051A>G	c.(4051-4053)AAA>GAA	p.K1351E	ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA|ANKAR_uc002uqy.1_3'UTR	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1422						integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CCAACTTGGGAAACATGTCCA	0.328													G	190611312	A	G	190611312	3	3	104	1	0	0	0	0	1	0	0	0	623	247	9	3	4350	3	ANKAR	2	190611312	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	8798	190611312	52588061	1232	67846											
ORMDL1	94101	broad.mit.edu	37	chr2	190647161	190647161	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttaccagattatgtataAtatttgttaaagtccaagca	5	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:190647161A>C	uc002urb.3	-	1	948	c.161T>G	c.(160-162)ATT>AGT	p.I54S	PMS1_uc010zga.1_5'Flank|PMS1_uc010zgb.1_5'Flank|PMS1_uc002urh.3_5'Flank|PMS1_uc002urk.3_5'Flank|PMS1_uc002uri.3_5'Flank|PMS1_uc010zgc.1_5'Flank|PMS1_uc010zgd.1_5'Flank|PMS1_uc002urj.2_5'Flank|ORMDL1_uc002urc.3_Missense_Mutation_p.I54S|ORMDL1_uc002urd.3_Missense_Mutation_p.I54S|ORMDL1_uc002ure.3_Missense_Mutation_p.I54S|ORMDL1_uc002urf.3_Missense_Mutation_p.I54S|PMS1_uc010zfz.1_5'Flank	NM_016467	NP_057551	Q9P0S3	ORML1_HUMAN	ORM1-like 1	54					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			ATTATGTATAATATTTGTTAA	0.269													C	190647161	A	C	190647161	3	2	104	1	0	0	0	0	1	0	0	0	11269	101	4	5	312	5	ORMDL1	2	190647161	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	35849	190647161	52552212	1233	67847											
GLS	2744	broad.mit.edu	37	chr2	191759964	191759964	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagaaaatacctgttcataAatttattacagtaagttttt	5	4	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:191759964A>C	uc002usf.2	+	2	737	c.473A>C	c.(472-474)AAA>ACA	p.K158T	GLS_uc002usd.2_Missense_Mutation_p.K158T|GLS_uc002use.2_Missense_Mutation_p.K158T	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase precursor	158					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCTGTTCATAAATTTATTACA	0.239													C	191759964	A	C	191759964	3	2	104	1	0	0	0	0	1	0	0	0	6463	14	1	5	479	5	GLS	2	191759964	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1112803	191759964	51439409	1234	67848											
MYO1B	4430	broad.mit.edu	37	chr2	192255065	192255065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacacatcttcaacgaggCtctagtgtgtcatcagatca	8	11	6	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:192255065C>T	uc010fsg.2	+	18	2084	c.1829C>T	c.(1828-1830)GCT>GTT	p.A610V	MYO1B_uc002usq.2_Missense_Mutation_p.A610V|MYO1B_uc002usr.2_Missense_Mutation_p.A610V|MYO1B_uc002usu.2_5'Flank	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	610	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TTCAACGAGGCTCTAGTGTGT	0.458													T	192255065	C	T	192255065	3	4	104	1	0	0	0	0	1	0	0	0	10069	797	28	2	1895	2	MYO1B	2	192255065	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	495101	192255065	50944308	1235	67849											
SLC39A10	57181	broad.mit.edu	37	chr2	196544962	196544962	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaaatactatattgaaAaactttttgagcgttatggt	6	3	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:196544962A>C	uc002utg.3	+	2	410	c.196A>C	c.(196-198)AAA>CAA	p.K66Q	SLC39A10_uc002uth.3_Missense_Mutation_p.K66Q|SLC39A10_uc010zgp.1_Intron	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter),	66					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.221)			CTATATTGAAAAACTTTTTGA	0.368													C	196544962	A	C	196544962	3	2	104	1	0	0	0	0	1	0	0	0	14613	15	1	5	198	5	SLC39A10	2	196544962	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	4289897	196544962	46654411	1236	67850											
DNAH7	56171	broad.mit.edu	37	chr2	196722258	196722258	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attgtccttgtcatattcatGaagtgactgcagaaacctca	7	9	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:196722258G>T	uc002utj.3	-	44	8358	c.8257C>A	c.(8257-8259)CAT>AAT	p.H2753N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2753	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TCATATTCATGAAGTGACTGC	0.373													T	196722258	G	T	196722258	3	4	104	1	0	0	0	0	1	0	0	0	4606	1290	45	5	3905	5	DNAH7	2	196722258	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	177296	196722258	46477115	1237	67851											
STK17B	9262	broad.mit.edu	37	chr2	197002222	197002222	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggattgggtaatgagtcatcGaaacgaaatcttttggaaac	11	5	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:197002222G>A	uc002utk.2	-	8	1392	c.1068C>T	c.(1066-1068)TTC>TTT	p.F356F	STK17B_uc010fsh.2_Silent_p.F356F	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	356					apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)			ATGAGTCATCGAAACGAAATC	0.378													A	197002222	G	A	197002222	2	1	104	1	0	0	0	0	0	0	0	1	15290	1049	37	1		1	STK17B	2	197002222	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	279964	197002222	46197151	1238	67852											
STK17B	9262	broad.mit.edu	37	chr2	197002332	197002332	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagtcttgtcttcagaggAccttacagaatgatcctgag	10	8	3	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:197002332A>G	uc002utk.2	-	8	1282	c.958T>C	c.(958-960)TCC>CCC	p.S320P	STK17B_uc010fsh.2_Missense_Mutation_p.S320P	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	320					apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)			TCTTCAGAGGACCTTACAGAA	0.428													G	197002332	A	G	197002332	3	3	104	1	0	0	0	0	1	0	0	0	15290	275	10	3	164	3	STK17B	2	197002332	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	110	197002332	46197041	1239	67853											
HECW2	57520	broad.mit.edu	37	chr2	197105219	197105219	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tagcttatttctctgcaggtCttttctggagtagcccataa	8	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:197105219C>A	uc002utm.1	-	21	3901	c.3718G>T	c.(3718-3720)GAC>TAC	p.D1240Y	HECW2_uc002utl.1_Missense_Mutation_p.D884Y	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	1240	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						CTCTGCAGGTCTTTTCTGGAG	0.423													A	197105219	C	A	197105219	3	1	104	1	0	0	0	0	1	0	0	0	7043	913	32	5	1036	5	HECW2	2	197105219	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	102887	197105219	46094154	1240	67854											
PGAP1	80055	broad.mit.edu	37	chr2	197729765	197729765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaagaaggatattagataCgacataagcaggaagagctc	11	6	0	3	rs139880907		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:197729765C>T	uc002utw.2	-	20	1921	c.1807G>A	c.(1807-1809)GTA>ATA	p.V603I	PGAP1_uc002utx.2_Missense_Mutation_p.V429I|PGAP1_uc002uty.1_Intron	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	603	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			ovary(3)|central_nervous_system(1)	4						ATATTAGATACGACATAAGCA	0.318													T	197729765	C	T	197729765	3	4	104	1	0	0	0	0	1	0	0	0	11777	536	19	1	993	1	PGAP1	2	197729765	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	624546	197729765	45469608	1241	67855											
ANKRD44	91526	broad.mit.edu	37	chr2	197986245	197986245	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgatgtgaagcgctgtattTccatagacattgatttcatc	9	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:197986245T>C	uc002uuc.2	-	8	884	c.717A>G	c.(715-717)GGA>GGG	p.G239G	ANKRD44_uc002utz.3_5'UTR|ANKRD44_uc002uua.1_Silent_p.G214G|ANKRD44_uc002uub.2_Silent_p.G239G|ANKRD44_uc010zgw.1_Silent_p.G167G	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	239	ANK 8.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCGCTGTATTTCCATAGACAT	0.428													C	197986245	T	C	197986245	2	2	104	1	0	0	0	0	0	0	0	1	672	1770	62	3		3	ANKRD44	2	197986245	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	256480	197986245	45213128	1242	67856											
RFTN2	130132	broad.mit.edu	37	chr2	198511371	198511371	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaattgaatttatcttgatGacttctgggtttgatgaagc	10	4	2	6			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:198511371G>T	uc002uuo.3	-	2	561	c.159C>A	c.(157-159)GTC>GTA	p.V53V		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	53						plasma membrane					0						TTATCTTGATGACTTCTGGGT	0.308													T	198511371	G	T	198511371	2	4	104	1	0	0	0	0	0	0	0	1	13259	1277	45	5		5	RFTN2	2	198511371	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	525126	198511371	44688002	1243	67857											
RFTN2	130132	broad.mit.edu	37	chr2	198540074	198540074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaatccagcaatacatattCgtaagcaaattctgtctttg	5	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:198540074C>T	uc002uuo.3	-	1	511	c.109G>A	c.(109-111)GAA>AAA	p.E37K		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	37						plasma membrane					0						AATACATATTCGTAAGCAAAT	0.363													T	198540074	C	T	198540074	3	4	104	1	0	0	0	0	1	0	0	0	13259	893	31	1	1432	1	RFTN2	2	198540074	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	28703	198540074	44659299	1244	67858											
C2orf69	205327	broad.mit.edu	37	chr2	200789803	200789803	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaattaccatgaaattatgActcgtcatcctgagaattat	6	7	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:200789803A>G	uc010zhb.1	+	2	535	c.352A>G	c.(352-354)ACT>GCT	p.T118A		NM_153689	NP_710156	Q8N8R5	CB069_HUMAN	hypothetical protein LOC205327 precursor	118						extracellular region				central_nervous_system(1)	1						TGAAATTATGACTCGTCATCC	0.303													G	200789803	A	G	200789803	3	3	104	1	0	0	0	0	1	0	0	0	2188	275	10	3	358	3	C2orf69	2	200789803	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2249729	200789803	42409570	1245	67859											
C2orf60	129450	broad.mit.edu	37	chr2	200797994	200797994	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatggaaggtgcttccaaaaGatattcactcccactccaaa	7	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:200797994G>T	uc002uvi.3	-	8	1010	c.744C>A	c.(742-744)ATC>ATA	p.I248I	C2orf60_uc002uvj.3_Silent_p.I85I|C2orf60_uc002uvk.3_RNA|C2orf60_uc010fss.2_Silent_p.I85I	NM_001039693	NP_001034782	A2RUC4	TYW5_HUMAN	hypothetical protein LOC129450	248	JmjC.				wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding				0						GCTTCCAAAAGATATTCACTC	0.353													T	200797994	G	T	200797994	2	4	104	1	0	0	0	0	0	0	0	1	2179	932	33	5		5	C2orf60	2	200797994	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	8191	200797994	42401379	1246	67860											
SGOL2	151246	broad.mit.edu	37	chr2	201436553	201436553	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgtaataaaaaggagaaaaGaataacaaatgagcaagagg	11	2	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:201436553G>T	uc002uvw.2	+	7	1597	c.1484G>T	c.(1483-1485)AGA>ATA	p.R495I	SGOL2_uc010zhd.1_Missense_Mutation_p.R495I|SGOL2_uc010zhe.1_Missense_Mutation_p.R495I	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2 isoform 1	495					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)|skin(2)	4						AAGGAGAAAAGAATAACAAAT	0.368													T	201436553	G	T	201436553	3	4	104	1	0	0	0	0	1	0	0	0	14217	942	33	5	1506	5	SGOL2	2	201436553	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	638559	201436553	41762820	1247	67861											
AOX1	316	broad.mit.edu	37	chr2	201467062	201467062	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attgatgcatgcaagactttCtgtaaagtaagtggaaagga	11	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:201467062C>T	uc002uvx.2	+	6	593	c.492C>T	c.(490-492)TTC>TTT	p.F164F		NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	164					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GCAAGACTTTCTGTAAAGTAA	0.453													T	201467062	C	T	201467062	2	4	104	1	0	0	0	0	0	0	0	1	729	912	32	4		4	AOX1	2	201467062	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	30509	201467062	41732311	1248	67862											
AOX1	316	broad.mit.edu	37	chr2	201477409	201477409	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcaattcaggaatgagagtCttttttggagaaggggatgg	15	3	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:201477409C>T	uc002uvx.2	+	14	1442	c.1341C>T	c.(1339-1341)GTC>GTT	p.V447V	AOX1_uc010zhf.1_Silent_p.V3V|AOX1_uc010fsu.2_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	447					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GAATGAGAGTCTTTTTTGGAG	0.473													T	201477409	C	T	201477409	2	4	104	1	0	0	0	0	0	0	0	1	729	900	32	4		4	AOX1	2	201477409	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	10347	201477409	41721964	1249	67863											
FZD7	8324	broad.mit.edu	37	chr2	202900702	202900702	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccttcttgctggccggcttCgtgtccctcttccgtatccg	9	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:202900702C>T	uc002uyw.1	+	1	1393	c.1332C>T	c.(1330-1332)TTC>TTT	p.F444F		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	444	Helical; Name=5; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(2)|ovary(1)|breast(1)	4						TGGCCGGCTTCGTGTCCCTCT	0.607											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	202900702	C	T	202900702	2	4	104	1	0	0	0	0	0	0	0	1	6135	883	31	1		1	FZD7	2	202900702	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1423293	202900702	40298671	1250	67864											
BMPR2	659	broad.mit.edu	37	chr2	203329536	203329536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcctttattttagcttcGcagaatcaagaacggctatg	7	8	1	2	rs147207234	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:203329536G>A	uc002uzf.3	+	2	1229	c.81G>A	c.(79-81)TCG>TCA	p.S27S	BMPR2_uc010ftr.2_Silent_p.S27S|BMPR2_uc002uze.2_Silent_p.S27S	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	27	Extracellular (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						TTTTAGCTTCGCAGAATCAAG	0.313													A	203329536	G	A	203329536	2	1	104	1	0	0	0	0	0	0	0	1	1471	1074	38	1		1	BMPR2	2	203329536	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	428834	203329536	39869837	1251	67865											
WDR12	55759	broad.mit.edu	37	chr2	203749137	203749137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaagttgacttaagactgCcagactcaacatcccacact	5	14	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:203749137C>T	uc002uzl.2	-	9	1613	c.863G>A	c.(862-864)GGC>GAC	p.G288D	WDR12_uc010ftt.2_Missense_Mutation_p.G288D	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	WD repeat domain 12 protein	288	WD 4.|Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						CTTAAGACTGCCAGACTCAAC	0.408													T	203749137	C	T	203749137	3	4	104	1	0	0	0	0	1	0	0	0	17271	739	26	2	428	2	WDR12	2	203749137	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	419601	203749137	39450236	1252	67866											
NBEAL1	65065	broad.mit.edu	37	chr2	204034508	204034508	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agccgactgttgtcacttcaTtccccaaatagttattatgg	7	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:204034508T>G	uc002uzt.3	+	38	6282	c.5949T>G	c.(5947-5949)CAT>CAG	p.H1983Q	NBEAL1_uc002uzs.3_Missense_Mutation_p.H693Q	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	1983							binding			ovary(1)|skin(1)	2						TGTCACTTCATTCCCCAAATA	0.328													G	204034508	T	G	204034508	3	3	104	1	0	0	0	0	1	0	0	0	10188	1490	52	5	6095	5	NBEAL1	2	204034508	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	285371	204034508	39164865	1253	67867											
NBEAL1	65065	broad.mit.edu	37	chr2	204073897	204073897	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtaggatggaacggtgaTtatacataccattcagaaag	11	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:204073897T>G	uc002uzt.3	+	52	7883	c.7550T>G	c.(7549-7551)ATT>AGT	p.I2517S	NBEAL1_uc002uzs.3_Missense_Mutation_p.I1158S|NBEAL1_uc002uzu.2_Missense_Mutation_p.I12S	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	2517	WD 2.						binding			ovary(1)|skin(1)	2						GGAACGGTGATTATACATACC	0.378													G	204073897	T	G	204073897	3	3	104	1	0	0	0	0	1	0	0	0	10188	1493	52	5	7752	5	NBEAL1	2	204073897	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	39389	204073897	39125476	1254	67868											
RAPH1	65059	broad.mit.edu	37	chr2	204305381	204305381	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggggttttgcacagaagctCtgttgcttgggtaatgttgg	16	5	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:204305381C>T	uc002vad.2	-	14	2757	c.2532G>A	c.(2530-2532)CAG>CAA	p.Q844Q		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	844					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						CACAGAAGCTCTGTTGCTTGG	0.592													T	204305381	C	T	204305381	2	4	104	1	0	0	0	0	0	0	0	1	13050	912	32	4		4	RAPH1	2	204305381	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	231484	204305381	38893992	1255	67869											
PARD3B	117583	broad.mit.edu	37	chr2	205978262	205978262	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggggaaggaggcccattggGaatacatgtagtgcccttct	14	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:205978262G>T	uc002var.1	+	6	848	c.641G>T	c.(640-642)GGA>GTA	p.G214V	PARD3B_uc010fub.1_Missense_Mutation_p.G214V|PARD3B_uc002vao.1_Missense_Mutation_p.G214V|PARD3B_uc002vap.1_Missense_Mutation_p.G214V|PARD3B_uc002vaq.1_Missense_Mutation_p.G214V	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	214	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGCCCATTGGGAATACATGTA	0.428													T	205978262	G	T	205978262	3	4	104	1	0	0	0	0	1	0	0	0	11444	1174	41	5	663	5	PARD3B	2	205978262	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1672881	205978262	37221111	1256	67870											
INO80D	54891	broad.mit.edu	37	chr2	206870101	206870101	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtacctgtggagaacAcccctattcctctatctgac	6	15	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:206870101A>G	uc002vaz.3	-	11	2480	c.2075T>C	c.(2074-2076)GTG>GCG	p.V692A		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	692					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						TGTGGAGAACACCCCTATTCC	0.502													G	206870101	A	G	206870101	3	3	104	1	0	0	0	0	1	0	0	0	7749	159	6	3	1012	3	INO80D	2	206870101	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	891839	206870101	36329272	1257	67871											
EEF1B2	1933	broad.mit.edu	37	chr2	207026796	207026796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaggctaagggaagaacGtcttgcacaatatgaatcaa	10	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:207026796G>A	uc002vbf.1	+	5	523	c.365G>A	c.(364-366)CGT>CAT	p.R122H	NDUFS1_uc010ziq.1_5'Flank|NDUFS1_uc002vbe.2_5'Flank|NDUFS1_uc010zir.1_5'Flank|NDUFS1_uc010zis.1_5'Flank|NDUFS1_uc010zit.1_5'Flank|NDUFS1_uc010ziu.1_5'Flank|EEF1B2_uc002vbg.1_Missense_Mutation_p.R122H|EEF1B2_uc002vbh.1_Missense_Mutation_p.R122H|SNORA41_uc002vbj.2_5'Flank	NM_001037663	NP_001032752	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta	122						cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity				0						AGGGAAGAACGTCTTGCACAA	0.348													A	207026796	G	A	207026796	3	1	104	1	0	0	0	0	1	0	0	0	4925	1145	40	1	379	1	EEF1B2	2	207026796	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	156695	207026796	36172577	1258	67872											
GPR1	2825	broad.mit.edu	37	chr2	207040930	207040930	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agctgtttccaggagacacaGattcttggtttctgagttcc	10	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:207040930G>T	uc002vbl.3	-	3	1428	c.1042C>A	c.(1042-1044)CTG>ATG	p.L348M	GPR1_uc010fue.2_Missense_Mutation_p.L348M|GPR1_uc010fuf.2_Missense_Mutation_p.L348M	NM_005279	NP_005270	P46091	GPR1_HUMAN	G protein-coupled receptor 1	348	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		AGGAGACACAGATTCTTGGTT	0.428													T	207040930	G	T	207040930	3	4	104	1	0	0	0	0	1	0	0	0	6621	933	33	5	29	5	GPR1	2	207040930	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	14134	207040930	36158443	1259	67873											
DYTN	391475	broad.mit.edu	37	chr2	207527726	207527726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctccttgatgttacctgCctctttcttttccacggctg	6	14	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:207527726C>T	uc002vbr.1	-	11	1651	c.1534G>A	c.(1534-1536)GCA>ACA	p.A512T		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	dystrotelin	512	Potential.					plasma membrane	zinc ion binding			ovary(1)|central_nervous_system(1)	2				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		ATGTTACCTGCCTCTTTCTTT	0.488													T	207527726	C	T	207527726	3	4	104	1	0	0	0	0	1	0	0	0	4861	739	26	2	210	2	DYTN	2	207527726	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	486796	207527726	35671647	1260	67874											
CREB1	1385	broad.mit.edu	37	chr2	208442362	208442362	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagcacgaaagagagaggtCcgtctaatgaagaacaggta	13	7	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:208442362C>T	uc002vcc.2	+	8	1115	c.864C>T	c.(862-864)GTC>GTT	p.V288V	CREB1_uc002vcd.2_Silent_p.V274V	NM_134442	NP_604391	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	288	Basic motif.				activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(42)	soft_tissue(42)|breast(1)|central_nervous_system(1)	44				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	AGAGAGAGGTCCGTCTAATGA	0.458			T	EWSR1	clear cell sarcoma|angiomatoid fibrous histiocytoma								T	208442362	C	T	208442362	2	4	104	1	0	0	0	0	0	0	0	1	3854	842	30	4		4	CREB1	2	208442362	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	914636	208442362	34757011	1261	67875											
FAM119A	151194	broad.mit.edu	37	chr2	208478021	208478021	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accaagtatcaggtcaaattCtccaggagaaaaactcccca	6	12	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:208478021C>A	uc002vcf.2	-	4	566	c.406G>T	c.(406-408)GAA>TAA	p.E136*	FAM119A_uc002vce.2_Intron|FAM119A_uc010fuk.1_Nonsense_Mutation_p.E136*|FAM119A_uc002vcg.3_Nonsense_Mutation_p.E136*	NM_145280	NP_660323	Q8WXB1	MT21A_HUMAN	hypothetical protein LOC151194	136						integral to membrane	methyltransferase activity				0				LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135)		AGGTCAAATTCTCCAGGAGAA	0.383													A	208478021	C	A	208478021	4	1	104	1	0	0	0	0	0	1	0	0	5413	922	32	5	254	5	FAM119A	2	208478021	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	35659	208478021	34721352	1262	67876											
PLEKHM3	389072	broad.mit.edu	37	chr2	208841424	208841424	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcgttccaaagacaaagtCgtcaaaatgctcaggaagct	8	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:208841424C>T	uc002vcl.2	-	3	1987	c.1497G>A	c.(1495-1497)ACG>ACA	p.T499T	PLEKHM3_uc002vcm.2_Silent_p.T499T	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M,	499					intracellular signal transduction		metal ion binding			ovary(1)	1						AAGACAAAGTCGTCAAAATGC	0.448													T	208841424	C	T	208841424	2	4	104	1	0	0	0	0	0	0	0	1	12082	871	31	1		1	PLEKHM3	2	208841424	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	363403	208841424	34357949	1263	67877											
CRYGA	1418	broad.mit.edu	37	chr2	209025593	209025593	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcacccccccagtcgtggtAccttctgtagtccccaggcc	9	18	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:209025593A>C	uc002vcq.3	-	3	477	c.460T>G	c.(460-462)TAC>GAC	p.Y154D		NM_014617	NP_055432	P11844	CRGA_HUMAN	crystallin, gamma A	154	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens				0				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		CAGTCGTGGTACCTTCTGTAG	0.562													C	209025593	A	C	209025593	3	2	104	1	0	0	0	0	1	0	0	0	3914	391	14	5	68	5	CRYGA	2	209025593	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	184169	209025593	34173780	1264	67878											
MAP2	4133	broad.mit.edu	37	chr2	210557748	210557748	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggtttagttgcccccatatCtcctggccctctgactccca	8	16	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:210557748C>A	uc002vde.1	+	7	1102	c.854C>A	c.(853-855)TCT>TAT	p.S285Y	MAP2_uc002vdc.1_Missense_Mutation_p.S285Y|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.S281Y	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	285					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GCCCCCATATCTCCTGGCCCT	0.458													A	210557748	C	A	210557748	3	1	104	1	0	0	0	0	1	0	0	0	9235	913	32	5	868	5	MAP2	2	210557748	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1532155	210557748	32641625	1265	67879											
MAP2	4133	broad.mit.edu	37	chr2	210559824	210559824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgattcaaaagaacatgCcaagaaaactgaagaggctg	10	7	1	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:210559824C>T	uc002vde.1	+	7	3178	c.2930C>T	c.(2929-2931)GCC>GTC	p.A977V	MAP2_uc002vdc.1_Missense_Mutation_p.A977V|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.A973V	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	977					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AAAGAACATGCCAAGAAAACT	0.393													T	210559824	C	T	210559824	3	4	104	1	0	0	0	0	1	0	0	0	9235	739	26	2	2944	2	MAP2	2	210559824	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2076	210559824	32639549	1266	67880											
C2orf67	151050	broad.mit.edu	37	chr2	211018339	211018339	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgtagcagaaaatgcaaatCtttggatttccgcagctgta	9	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:211018339C>A	uc002vds.2	-	2	1176	c.968G>T	c.(967-969)AGA>ATA	p.R323I	C2orf67_uc002vdt.2_Missense_Mutation_p.R323I|C2orf67_uc002vdw.2_Missense_Mutation_p.R323I|C2orf67_uc002vdy.1_Missense_Mutation_p.R323I|C2orf67_uc002vdv.2_Missense_Mutation_p.R323I|C2orf67_uc002vdx.1_Missense_Mutation_p.R323I	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	323										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)		AAATGCAAATCTTTGGATTTC	0.418													A	211018339	C	A	211018339	3	1	104	1	0	0	0	0	1	0	0	0	2186	913	32	5	2051	5	C2orf67	2	211018339	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	458515	211018339	32181034	1267	67881											
C2orf67	151050	broad.mit.edu	37	chr2	211018713	211018713	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagtggccaggtacaattttCttttgagtacagtgcaataa	10	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:211018713C>A	uc002vds.2	-	2	802	c.594G>T	c.(592-594)AAG>AAT	p.K198N	C2orf67_uc002vdt.2_Missense_Mutation_p.K198N|C2orf67_uc002vdw.2_Missense_Mutation_p.K198N|C2orf67_uc002vdy.1_Missense_Mutation_p.K198N|C2orf67_uc002vdv.2_Missense_Mutation_p.K198N|C2orf67_uc002vdx.1_Missense_Mutation_p.K198N	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	198										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)		GTACAATTTTCTTTTGAGTAC	0.368													A	211018713	C	A	211018713	3	1	104	1	0	0	0	0	1	0	0	0	2186	912	32	5	2425	5	C2orf67	2	211018713	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	374	211018713	32180660	1268	67882											
CPS1	1373	broad.mit.edu	37	chr2	211466941	211466941	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacagattgaggatgcactgAaggcagcagacaccattggc	13	9	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:211466941A>C	uc002vee.3	+	16	1855	c.1723A>C	c.(1723-1725)AAG>CAG	p.K575Q	CPS1_uc010fur.2_Missense_Mutation_p.K581Q|CPS1_uc010fus.2_Missense_Mutation_p.K124Q	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	575	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGATGCACTGAAGGCAGCAGA	0.502													C	211466941	A	C	211466941	3	2	104	1	0	0	0	0	1	0	0	0	3823	247	9	5	1807	5	CPS1	2	211466941	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	448228	211466941	31732432	1269	67883											
CPS1	1373	broad.mit.edu	37	chr2	211471539	211471539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttcaatcaatgttgttcGccacttgggcattgtgggtg	11	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:211471539G>A	uc002vee.3	+	18	2198	c.2066G>A	c.(2065-2067)CGC>CAC	p.R689H	CPS1_uc010fur.2_Missense_Mutation_p.R695H|CPS1_uc010fus.2_Missense_Mutation_p.R238H	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	689	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AATGTTGTTCGCCACTTGGGC	0.468													A	211471539	G	A	211471539	3	1	104	1	0	0	0	0	1	0	0	0	3823	1087	38	1	2158	1	CPS1	2	211471539	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4598	211471539	31727834	1270	67884											
ERBB4	2066	broad.mit.edu	37	chr2	212812260	212812260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcataaagttttgtcccacGaataatgcgtaaattctcca	5	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:212812260G>A	uc002veg.1	-	3	414	c.316C>T	c.(316-318)CGT>TGT	p.R106C	ERBB4_uc002veh.1_Missense_Mutation_p.R106C|ERBB4_uc010zji.1_Missense_Mutation_p.R106C|ERBB4_uc010zjj.1_Missense_Mutation_p.R106C|ERBB4_uc010fut.1_Missense_Mutation_p.R106C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	106	Extracellular (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTTGTCCCACGAATAATGCGT	0.383										TSP Lung(8;0.080)			A	212812260	G	A	212812260	3	1	104	1	0	0	0	0	1	0	0	0	5209	1058	37	1	3714	1	ERBB4	2	212812260	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1340721	212812260	30387113	1271	67885											
ERBB4	2066	broad.mit.edu	37	chr2	212989563	212989563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagttttcatagtacttgcGcaaggctcggtactgctgtt	10	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:212989563G>A	uc002veg.1	-	2	246	c.148C>T	c.(148-150)CGC>TGC	p.R50C	ERBB4_uc002veh.1_Missense_Mutation_p.R50C|ERBB4_uc010zji.1_Missense_Mutation_p.R50C|ERBB4_uc010zjj.1_Missense_Mutation_p.R50C|ERBB4_uc010fut.1_Missense_Mutation_p.R50C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	50	Extracellular (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TAGTACTTGCGCAAGGCTCGG	0.493										TSP Lung(8;0.080)			A	212989563	G	A	212989563	3	1	104	1	0	0	0	0	1	0	0	0	5209	1087	38	1	3886	1	ERBB4	2	212989563	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	177303	212989563	30209810	1272	67886											
SPAG16	79582	broad.mit.edu	37	chr2	214181952	214181952	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttatcctaggtatgagttAatacagaaaggagtgactga	10	4	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:214181952A>C	uc002veq.2	+	5	500	c.408A>C	c.(406-408)TTA>TTC	p.L136F	SPAG16_uc010fuz.1_Intron|SPAG16_uc002ver.2_Missense_Mutation_p.L82F|SPAG16_uc010zjk.1_Missense_Mutation_p.L42F|SPAG16_uc002veo.2_Missense_Mutation_p.L136F|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Missense_Mutation_p.L105F	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	136					cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GGTATGAGTTAATACAGAAAG	0.323													C	214181952	A	C	214181952	3	2	104	1	0	0	0	0	1	0	0	0	14978	359	13	5	426	5	SPAG16	2	214181952	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1192389	214181952	29017421	1273	67887											
ABCA12	26154	broad.mit.edu	37	chr2	215917230	215917230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttttccaagccaagaattCgtgcgagcacttgactgcca	8	13	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:215917230C>T	uc002vew.2	-	5	708	c.488G>A	c.(487-489)CGA>CAA	p.R163Q	ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	163					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCCAAGAATTCGTGCGAGCAC	0.393													T	215917230	C	T	215917230	3	4	104	1	0	0	0	0	1	0	0	0	30	884	31	1	7526	1	ABCA12	2	215917230	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1735278	215917230	27282143	1274	67888											
FN1	2335	broad.mit.edu	37	chr2	216242982	216242982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcacttcatatttggtggCcacctagagaaataagggca	9	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:216242982C>T	uc002vfa.2	-	35	5892	c.5626G>A	c.(5626-5628)GCC>ACC	p.A1876T	FN1_uc002vfb.2_Missense_Mutation_p.A1695T|FN1_uc002vfc.2_Missense_Mutation_p.A1695T|FN1_uc002vfd.2_Missense_Mutation_p.A1876T|FN1_uc002vfe.2_Missense_Mutation_p.A1785T|FN1_uc002vff.2_Missense_Mutation_p.A1785T|FN1_uc002vfg.2_Missense_Mutation_p.A1695T|FN1_uc002vfh.2_Missense_Mutation_p.A1695T|FN1_uc002vfi.2_Missense_Mutation_p.A1876T|FN1_uc002vfj.2_Missense_Mutation_p.A1786T|FN1_uc002vez.2_Missense_Mutation_p.A70T|FN1_uc010zjp.1_Missense_Mutation_p.A413T|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA|FN1_uc010fvc.1_Missense_Mutation_p.A238T|FN1_uc010fvd.1_Intron	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1876	Binds to FBLN1.|Heparin-binding 2.|Fibronectin type-III 14.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TATTTGGTGGCCACCTAGAGA	0.428													T	216242982	C	T	216242982	3	4	104	1	0	0	0	0	1	0	0	0	5962	739	26	2	1855	2	FN1	2	216242982	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	325752	216242982	26956391	1275	67889											
FN1	2335	broad.mit.edu	37	chr2	216274830	216274830	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttccttccaacggcctacaGaatttttctgaaaatttaaa	4	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:216274830G>T	uc002vfa.2	-	14	2215	c.1949C>A	c.(1948-1950)TCT>TAT	p.S650Y	FN1_uc002vfb.2_Missense_Mutation_p.S650Y|FN1_uc002vfc.2_Missense_Mutation_p.S650Y|FN1_uc002vfd.2_Missense_Mutation_p.S650Y|FN1_uc002vfe.2_Missense_Mutation_p.S650Y|FN1_uc002vff.2_Missense_Mutation_p.S650Y|FN1_uc002vfg.2_Missense_Mutation_p.S650Y|FN1_uc002vfh.2_Missense_Mutation_p.S650Y|FN1_uc002vfi.2_Missense_Mutation_p.S650Y|FN1_uc002vfj.2_Missense_Mutation_p.S650Y	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	650	Fibronectin type-III 1.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACGGCCTACAGAATTTTTCTG	0.363													T	216274830	G	T	216274830	3	4	104	1	0	0	0	0	1	0	0	0	5962	942	33	5	5616	5	FN1	2	216274830	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	31848	216274830	26924543	1276	67890											
MREG	55686	broad.mit.edu	37	chr2	216809618	216809618	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaacggaaggtagtgcagttCtttctggccatctgccaggc	12	10	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:216809618C>A	uc002vfo.2	-	5	909	c.613G>T	c.(613-615)GAA>TAA	p.E205*	MREG_uc002vfq.2_RNA	NM_018000	NP_060470	Q8N565	MREG_HUMAN	whn-dependent transcript 2	205						apical plasma membrane					0		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		TAGTGCAGTTCTTTCTGGCCA	0.507													A	216809618	C	A	216809618	4	1	104	1	0	0	0	0	0	1	0	0	9760	922	32	5	35	5	MREG	2	216809618	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	534788	216809618	26389755	1277	67891											
MREG	55686	broad.mit.edu	37	chr2	216809669	216809669	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcttcttggggtaagttcGacgagcaagcttaaagaact	12	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:216809669G>A	uc002vfo.2	-	5	858	c.562C>T	c.(562-564)CGA>TGA	p.R188*	MREG_uc002vfq.2_RNA	NM_018000	NP_060470	Q8N565	MREG_HUMAN	whn-dependent transcript 2	188						apical plasma membrane					0		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		GGGTAAGTTCGACGAGCAAGC	0.498													A	216809669	G	A	216809669	4	1	104	1	0	0	0	0	0	1	0	0	9760	1066	37	1	86	1	MREG	2	216809669	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	51	216809669	26389704	1278	67892											
SMARCAL1	50485	broad.mit.edu	37	chr2	217279808	217279808	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaatctctcctcccttggcAcaaagtcctccagaggtccc	8	16	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:217279808A>G	uc002vgc.3	+	3	711	c.381A>G	c.(379-381)GCA>GCG	p.A127A	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Silent_p.A127A|SMARCAL1_uc010fvg.2_Silent_p.A127A	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	127					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTCCCTTGGCACAAAGTCCTC	0.502									Schimke_Immuno-Osseous_Dysplasia				G	217279808	A	G	217279808	2	3	104	1	0	0	0	0	0	0	0	1	14773	146	6	3		3	SMARCAL1	2	217279808	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	470139	217279808	25919565	1279	67893											
TNS1	7145	broad.mit.edu	37	chr2	218700848	218700848	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggatgtggcttctggagActggttctcatactgtccat	13	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:218700848A>G	uc002vgt.2	-	18	3117	c.2719T>C	c.(2719-2721)TCT>CCT	p.S907P	TNS1_uc002vgr.2_Missense_Mutation_p.S907P|TNS1_uc002vgs.2_Missense_Mutation_p.S907P|TNS1_uc010zjv.1_Missense_Mutation_p.S907P	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	907						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCTTCTGGAGACTGGTTCTCA	0.647													G	218700848	A	G	218700848	3	3	104	1	0	0	0	0	1	0	0	0	16340	275	10	3	2552	3	TNS1	2	218700848	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1421040	218700848	24498525	1280	67894											
CXCR2	3579	broad.mit.edu	37	chr2	218999817	218999817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggccgacctactctttgCcctgaccttgcccatctggg	9	16	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:218999817C>T	uc002vgz.1	+	4	518	c.293C>T	c.(292-294)GCC>GTC	p.A98V	CXCR2_uc002vha.1_Missense_Mutation_p.A98V|CXCR2_uc002vhb.1_Missense_Mutation_p.A98V	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	98	Helical; Name=2; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)|breast(1)	2						CTACTCTTTGCCCTGACCTTG	0.547													T	218999817	C	T	218999817	3	4	104	1	0	0	0	0	1	0	0	0	4091	739	26	2	295	2	CXCR2	2	218999817	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	298969	218999817	24199556	1281	67895											
CXCR2	3579	broad.mit.edu	37	chr2	219000231	219000231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctacggattcaccctgcGtacgctgtttaaggcccaca	9	14	1	0	rs144013681		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:219000231G>A	uc002vgz.1	+	4	932	c.707G>A	c.(706-708)CGT>CAT	p.R236H	CXCR2_uc002vha.1_Missense_Mutation_p.R236H|CXCR2_uc002vhb.1_Missense_Mutation_p.R236H	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	236	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)|breast(1)	2						TTCACCCTGCGTACGCTGTTT	0.567													A	219000231	G	A	219000231	3	1	104	1	0	0	0	0	1	0	0	0	4091	1145	40	1	709	1	CXCR2	2	219000231	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	414	219000231	24199142	1282	67896											
CTDSP1	58190	broad.mit.edu	37	chr2	219267801	219267801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtggatgagttcctgcagcGaatgggcgagctctttgaat	14	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:219267801G>A	uc002vhy.2	+	5	758	c.422G>A	c.(421-423)CGA>CAA	p.R141Q	CTDSP1_uc002vhx.2_Missense_Mutation_p.R140Q|CTDSP1_uc002vhz.2_5'UTR	NM_021198	NP_067021	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	141	FCP1 homology.				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			ovary(1)	1		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCCTGCAGCGAATGGGCGAG	0.667													A	219267801	G	A	219267801	3	1	104	1	0	0	0	0	1	0	0	0	4003	1058	37	1	440	1	CTDSP1	2	219267801	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	267570	219267801	23931572	1283	67897											
USP37	57695	broad.mit.edu	37	chr2	219321865	219321865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caacactgatgagccggtacGaatgaggcagatttcctgtc	11	10	0	4	rs4292082		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:219321865G>A	uc002vie.2	-	24	3116	c.2663C>T	c.(2662-2664)TCG>TTG	p.S888L	USP37_uc010fvs.1_Missense_Mutation_p.S888L|USP37_uc010zkf.1_Missense_Mutation_p.S888L|USP37_uc002vif.2_Missense_Mutation_p.S888L|USP37_uc002vig.2_Missense_Mutation_p.S794L	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	888					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GAGCCGGTACGAATGAGGCAG	0.353													A	219321865	G	A	219321865	3	1	104	1	0	0	0	0	1	0	0	0	17065	1059	37	1	288	1	USP37	2	219321865	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	54064	219321865	23877508	1284	67898											
USP37	57695	broad.mit.edu	37	chr2	219341566	219341566	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaatattacttactttTtccaggtcttcctgctgctg	6	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:219341566T>G	uc002vie.2	-	19	2493	c.2040A>C	c.(2038-2040)GAA>GAC	p.E680D	USP37_uc010fvs.1_Missense_Mutation_p.E680D|USP37_uc010zkf.1_Missense_Mutation_p.E680D|USP37_uc002vif.2_Missense_Mutation_p.E680D|USP37_uc002vig.2_Missense_Mutation_p.E586D	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	680					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TACTTACTTTTTCCAGGTCTT	0.373													G	219341566	T	G	219341566	3	3	104	1	0	0	0	0	1	0	0	0	17065	1838	64	5	931	5	USP37	2	219341566	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	19701	219341566	23857807	1285	67899											
ZNF142	7701	broad.mit.edu	37	chr2	219507616	219507616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accggtaccgtctggtggtcGaaaagtcacagaaggggcac	14	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:219507616G>A	uc002vin.2	-	8	4059	c.3623C>T	c.(3622-3624)TCG>TTG	p.S1208L	ZNF142_uc002vil.2_Missense_Mutation_p.S1169L|ZNF142_uc010fvt.2_Missense_Mutation_p.S1045L|ZNF142_uc002vim.2_Missense_Mutation_p.S1045L	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	1208	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCTGGTGGTCGAAAAGTCACA	0.607													A	219507616	G	A	219507616	3	1	104	1	0	0	0	0	1	0	0	0	17728	1059	37	1	1452	1	ZNF142	2	219507616	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	166050	219507616	23691757	1286	67900											
ZNF142	7701	broad.mit.edu	37	chr2	219509723	219509723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagacttgccctgatgccGcagcttgtggctgctcagct	12	13	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:219509723G>A	uc002vin.2	-	8	1952	c.1516C>T	c.(1516-1518)CGG>TGG	p.R506W	ZNF142_uc002vil.2_Missense_Mutation_p.R467W|ZNF142_uc010fvt.2_Missense_Mutation_p.R343W|ZNF142_uc002vim.2_Missense_Mutation_p.R343W	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	506	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCCTGATGCCGCAGCTTGTGG	0.577													A	219509723	G	A	219509723	3	1	104	1	0	0	0	0	1	0	0	0	17728	1086	38	1	3559	1	ZNF142	2	219509723	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2107	219509723	23689650	1287	67901											
BCS1L	617	broad.mit.edu	37	chr2	219526163	219526163	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggattcgggtagaacgaagtCgagagatgcagatgatagac	15	5	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:219526163C>T	uc002vio.2	+	3	773	c.355C>T	c.(355-357)CGA>TGA	p.R119*	ZNF142_uc002vin.2_5'Flank|ZNF142_uc010fvt.2_5'Flank|ZNF142_uc002vim.2_5'Flank|BCS1L_uc002vip.2_Nonsense_Mutation_p.R119*|BCS1L_uc002viq.2_Nonsense_Mutation_p.R119*|BCS1L_uc010fvu.2_Nonsense_Mutation_p.R119*|BCS1L_uc010fvv.2_Nonsense_Mutation_p.R119*|BCS1L_uc002vir.2_Nonsense_Mutation_p.R119*|BCS1L_uc002vis.2_Nonsense_Mutation_p.R119*	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN	BCS1-like	119	Mitochondrial matrix (Potential).				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding				0		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAACGAAGTCGAGAGATGCA	0.488													T	219526163	C	T	219526163	4	4	104	1	0	0	0	0	0	1	0	0	1389	876	31	1	361	1	BCS1L	2	219526163	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	16440	219526163	23673210	1288	67902											
STK36	27148	broad.mit.edu	37	chr2	219563571	219563571	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gccacttgtcctttatccaaGagcttctggctggctctgat	9	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:219563571G>T	uc002viu.2	+	26	3570	c.3304G>T	c.(3304-3306)GAG>TAG	p.E1102*	STK36_uc002viv.2_Nonsense_Mutation_p.E1081*|STK36_uc002viw.2_Nonsense_Mutation_p.E280*|STK36_uc002vix.2_Nonsense_Mutation_p.E147*	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1102					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTTTATCCAAGAGCTTCTGGC	0.592													T	219563571	G	T	219563571	4	4	104	1	0	0	0	0	0	1	0	0	15301	943	33	5	3402	5	STK36	2	219563571	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	37408	219563571	23635802	1289	67903											
TTLL4	9654	broad.mit.edu	37	chr2	219617583	219617583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgccgtggtcagtttgaacGaatttttccttctcatatct	7	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:219617583G>A	uc002viy.2	+	17	3444	c.3074G>A	c.(3073-3075)CGA>CAA	p.R1025Q	TTLL4_uc010zkl.1_Missense_Mutation_p.R860Q|TTLL4_uc010fvx.2_Missense_Mutation_p.R961Q|TTLL4_uc010zkm.1_Missense_Mutation_p.R228Q	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1025					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CAGTTTGAACGAATTTTTCCT	0.458													A	219617583	G	A	219617583	3	1	104	1	0	0	0	0	1	0	0	0	16726	1058	37	1	3132	1	TTLL4	2	219617583	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	54012	219617583	23581790	1290	67904											
WNT10A	80326	broad.mit.edu	37	chr2	219754759	219754759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagctggcgtggtgcacGccgtgtccaatgcgtgtgcc	15	13	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:219754759G>A	uc002vjd.1	+	3	893	c.430G>A	c.(430-432)GCC>ACC	p.A144T		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family,	144					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	p.A144V(1)		lung(1)|skin(1)	2		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTGGTGCACGCCGTGTCCAA	0.562													A	219754759	G	A	219754759	3	1	104	1	0	0	0	0	1	0	0	0	17379	1087	38	1	440	1	WNT10A	2	219754759	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	137176	219754759	23444614	1291	67905											
CCDC108	255101	broad.mit.edu	37	chr2	219903158	219903158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgttgatggcagggatgGccactgtgctggcactcagg	16	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:219903158G>A	uc002vjl.1	-	4	380	c.296C>T	c.(295-297)GCC>GTC	p.A99V	CCDC108_uc010zkp.1_Missense_Mutation_p.A88V|CCDC108_uc010zkq.1_Missense_Mutation_p.A34V|CCDC108_uc002vjn.2_Missense_Mutation_p.A34V	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	99						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCAGGGATGGCCACTGTGCT	0.522													A	219903158	G	A	219903158	3	1	104	1	0	0	0	0	1	0	0	0	2743	1203	42	2	5757	2	CCDC108	2	219903158	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	148399	219903158	23296215	1292	67906											
ATG9A	79065	broad.mit.edu	37	chr2	220087075	220087075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggagcgcagggcagagGcgacttcagccctgtgcctg	16	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:220087075G>A	uc002vke.1	-	12	2132	c.1946C>T	c.(1945-1947)GCC>GTC	p.A649V	ABCB6_uc010fwe.1_5'Flank|ABCB6_uc010zku.1_5'Flank|ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Missense_Mutation_p.A649V	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN	APG9 autophagy 9-like 1	649	Cytoplasmic (By similarity).				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGGCAGAGGCGACTTCAGC	0.662													A	220087075	G	A	220087075	3	1	104	1	0	0	0	0	1	0	0	0	1102	1203	42	2	593	2	ATG9A	2	220087075	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	183917	220087075	23112298	1293	67907											
PTPRN	5798	broad.mit.edu	37	chr2	220162693	220162693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgccgcgcatgctgccGcacacacagagccacagcca	10	17	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:220162693G>A	uc002vkz.2	-	13	1890	c.1801C>T	c.(1801-1803)CGG>TGG	p.R601W	PTPRN_uc010zlc.1_Missense_Mutation_p.R511W|PTPRN_uc002vla.2_Missense_Mutation_p.R572W	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	601	Cytoplasmic (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GCATGCTGCCGCACACACAGA	0.667													A	220162693	G	A	220162693	3	1	104	1	0	0	0	0	1	0	0	0	12807	1086	38	1	1182	1	PTPRN	2	220162693	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	75618	220162693	23036680	1294	67908											
SPEG	10290	broad.mit.edu	37	chr2	220309737	220309737	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaccggggccgggccacgGcacctgggggtggagccgct	19	14	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:220309737G>A	uc010fwg.2	+	3	669	c.669G>A	c.(667-669)CGG>CGA	p.R223R	SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Intron|SPEG_uc002vln.1_5'UTR	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	223					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCGGGCCACGGCACCTGGGGG	0.711													A	220309737	G	A	220309737	2	1	104	1	0	0	0	0	0	0	0	1	15035	1190	42	2		2	SPEG	2	220309737	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	147044	220309737	22889636	1295	67909											
SLC4A3	6508	broad.mit.edu	37	chr2	220500178	220500178	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcgtgaacagaccaaagtCgagatgaccacacggggtgg	15	9	0	4	rs140228124	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:220500178C>T	uc002vmp.3	+	13	2201	c.1932C>T	c.(1930-1932)GTC>GTT	p.V644V	SLC4A3_uc002vmo.3_Silent_p.V671V|SLC4A3_uc010fwm.2_Silent_p.V194V|SLC4A3_uc010fwn.1_Silent_p.V153V	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	644	Cytoplasmic.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGACCAAAGTCGAGATGACCA	0.647													T	220500178	C	T	220500178	2	4	104	1	0	0	0	0	0	0	0	1	14655	871	31	1		1	SLC4A3	2	220500178	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	190441	220500178	22699195	1296	67910											
EPHA4	2043	broad.mit.edu	37	chr2	222308273	222308273	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttctttggcaaactctcGcactgcttggttgggatctt	9	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:222308273G>A	uc002vmq.2	-	10	1870	c.1828C>T	c.(1828-1830)CGA>TGA	p.R610*	EPHA4_uc002vmr.2_Nonsense_Mutation_p.R610*|EPHA4_uc010zlm.1_Nonsense_Mutation_p.R551*|EPHA4_uc010zln.1_Nonsense_Mutation_p.R610*	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	610	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GCAAACTCTCGCACTGCTTGG	0.418													A	222308273	G	A	222308273	4	1	104	1	0	0	0	0	0	1	0	0	5169	1095	38	1	1164	1	EPHA4	2	222308273	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1808095	222308273	20891100	1297	67911											
EPHA4	2043	broad.mit.edu	37	chr2	222433473	222433473	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcttgctatccacccaagttCtccctgaacagatctggaat	7	13	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:222433473C>A	uc002vmq.2	-	2	166	c.124G>T	c.(124-126)GAA>TAA	p.E42*	EPHA4_uc002vmr.2_Nonsense_Mutation_p.E42*|EPHA4_uc010zlm.1_Intron|EPHA4_uc010zln.1_Nonsense_Mutation_p.E42*	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	42	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CACCCAAGTTCTCCCTGAACA	0.398													A	222433473	C	A	222433473	4	1	104	1	0	0	0	0	0	1	0	0	5169	922	32	5	2900	5	EPHA4	2	222433473	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	125200	222433473	20765900	1298	67912											
PAX3	5077	broad.mit.edu	37	chr2	223096870	223096870	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaatgtcagggtaatgagttCtctcaaaagcacgctccagt	9	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:223096870C>A	uc010fwo.2	-	5	1085	c.719G>T	c.(718-720)AGA>ATA	p.R240I	PAX3_uc002vmt.1_Missense_Mutation_p.R240I|PAX3_uc002vmy.1_Missense_Mutation_p.R239I|PAX3_uc002vmv.1_Missense_Mutation_p.R240I|PAX3_uc002vmw.1_Missense_Mutation_p.R240I|PAX3_uc002vmx.1_Missense_Mutation_p.R240I	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	240	Homeobox.				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTAATGAGTTCTCTCAAAAGC	0.522			T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						A	223096870	C	A	223096870	3	1	104	1	0	0	0	0	1	0	0	0	11480	913	32	5	850	5	PAX3	2	223096870	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	663397	223096870	20102503	1299	67913											
ACSL3	2181	broad.mit.edu	37	chr2	223783787	223783787	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgtatttctaggatatAgtttctttggtcccacgcct	9	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:223783787A>C	uc002vni.2	+	7	1123	c.672A>C	c.(670-672)ATA>ATC	p.I224I	ACSL3_uc002vnj.2_Silent_p.I224I	NM_004457	NP_004448	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	224	Cytoplasmic (Potential).				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			ovary(2)	2		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TCTAGGATATAGTTTCTTTGG	0.433			T	ETV1	prostate								C	223783787	A	C	223783787	2	2	104	1	0	0	0	0	0	0	0	1	178	410	15	5		5	ACSL3	2	223783787	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	686917	223783787	19415586	1300	67914											
CUL3	8452	broad.mit.edu	37	chr2	225378310	225378310	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatagactgatcttccttcGagacctaaaatcattaacat	4	10	3	3	rs17408300	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:225378310G>A	uc002vny.2	-	5	969	c.585C>T	c.(583-585)CTC>CTT	p.L195L	CUL3_uc010zls.1_Silent_p.L129L|CUL3_uc010fwy.1_Silent_p.L201L	NM_003590	NP_003581	Q13618	CUL3_HUMAN	cullin 3	195					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATCTTCCTTCGAGACCTAAAA	0.303													A	225378310	G	A	225378310	2	1	104	1	0	0	0	0	0	0	0	1	4056	1045	37	1		1	CUL3	2	225378310	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1594523	225378310	17821063	1301	67915											
KIAA1486	57624	broad.mit.edu	37	chr2	226446931	226446931	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgatgaccagagcgaggcCgtctacgaggaaatgaagta	14	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:226446931C>T	uc002voe.2	+	4	973	c.798C>T	c.(796-798)GCC>GCT	p.A266A	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.A36A	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	266										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		AGAGCGAGGCCGTCTACGAGG	0.562													T	226446931	C	T	226446931	2	4	104	1	0	0	0	0	0	0	0	1	8237	639	23	1		1	KIAA1486	2	226446931	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1068621	226446931	16752442	1302	67916											
IRS1	3667	broad.mit.edu	37	chr2	227661066	227661066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttgcagcatagagaaggcGaccagagctagtggaaaggc	15	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:227661066G>A	uc002voh.3	-	1	2441	c.2389C>T	c.(2389-2391)CGC>TGC	p.R797C		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	797					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TAGAGAAGGCGACCAGAGCTA	0.617													A	227661066	G	A	227661066	3	1	104	1	0	0	0	0	1	0	0	0	7840	1058	37	1	1343	1	IRS1	2	227661066	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1214135	227661066	15538307	1303	67917											
COL4A4	1286	broad.mit.edu	37	chr2	227946898	227946898	+	Silent	SNP	C	C	T													ggtggtccagaggcaccatgCtttcccttggtgaaaaataa							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:227946898C>T	uc010zlt.1	-	23	2283	c.1629G>A	c.(1627-1629)AAG>AAA	p.K543K		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	543	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGGCACCATGCTTTCCCTTGG	0.413													T	227946898	C	T	227946898	2	4	104	1	0	0	0	0	0	0	0	1	3693	796	28	2		2	COL4A4	2	227946898	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	285832	227946898	15252475	1304	67918	315	2									
COL4A4	1286	broad.mit.edu	37	chr2	227946900	227946900	+	Missense_Mutation	SNP	T	T	G													tggtccagaggcaccatgctTtcccttggtgaaaaataaga							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:227946900T>G	uc010zlt.1	-	23	2281	c.1627A>C	c.(1627-1629)AAG>CAG	p.K543Q		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	543	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCACCATGCTTTCCCTTGGTG	0.418													G	227946900	T	G	227946900	3	3	104	1	0	0	0	0	1	0	0	0	3693	1850	64	5	3549	5	COL4A4	2	227946900	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2	227946900	15252473	1305	67919	315	2									
COL4A3	1285	broad.mit.edu	37	chr2	228163401	228163401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttttcatgaattcaggtgCgcctggtccccctggacctc	9	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:228163401C>T	uc002vom.1	+	43	3917	c.3755C>T	c.(3754-3756)GCG>GTG	p.A1252V	COL4A3_uc002von.1_Missense_Mutation_p.A1252V|COL4A3_uc002voo.1_Missense_Mutation_p.A1252V|COL4A3_uc002vop.1_Missense_Mutation_p.A1252V|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1252	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AATTCAGGTGCGCCTGGTCCC	0.483													T	228163401	C	T	228163401	3	4	104	1	0	0	0	0	1	0	0	0	3691	768	27	1	3925	1	COL4A3	2	228163401	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	216501	228163401	15035972	1306	67920											
COL4A3	1285	broad.mit.edu	37	chr2	228163523	228163523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagacatgggaccaccaggtCgtctggtgagtatggataat	14	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:228163523C>T	uc002vom.1	+	43	4039	c.3877C>T	c.(3877-3879)CGT>TGT	p.R1293C	COL4A3_uc002von.1_Missense_Mutation_p.R1293C|COL4A3_uc002voo.1_Missense_Mutation_p.R1293C|COL4A3_uc002vop.1_Missense_Mutation_p.R1293C|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1293	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ACCACCAGGTCGTCTGGTGAG	0.373													T	228163523	C	T	228163523	3	4	104	1	0	0	0	0	1	0	0	0	3691	884	31	1	4047	1	COL4A3	2	228163523	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	122	228163523	15035850	1307	67921											
SLC19A3	80704	broad.mit.edu	37	chr2	228563936	228563936	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtaaaagtacgacatgttCgccagggataccaagagttg	12	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:228563936C>T	uc002vpi.2	-	3	584	c.495G>A	c.(493-495)GCG>GCA	p.A165A	SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Silent_p.A161A	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	solute carrier family 19, member 3	165	Helical; (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	ACGACATGTTCGCCAGGGATA	0.542													T	228563936	C	T	228563936	2	4	104	1	0	0	0	0	0	0	0	1	14430	871	31	1		1	SLC19A3	2	228563936	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	400413	228563936	14635437	1308	67922											
WDR69	164781	broad.mit.edu	37	chr2	228769707	228769707	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagacagaatcatcacgggGtcttttgatcataccgttgt	11	8	4	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:228769707G>A	uc002vpn.1	+	8	790	c.711G>A	c.(709-711)GGG>GGA	p.G237G	WDR69_uc010zlw.1_Silent_p.G222G|WDR69_uc002vpo.1_RNA	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	WD repeat domain 69	237	WD 4.									breast(1)	1		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TCATCACGGGGTCTTTTGATC	0.428													A	228769707	G	A	228769707	2	1	104	1	0	0	0	0	0	0	0	1	17316	1248	44	4		4	WDR69	2	228769707	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	205771	228769707	14429666	1309	67923											
SPHKAP	80309	broad.mit.edu	37	chr2	228886519	228886519	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagataaggaacagttcgtgTcatcctccagtttcaagatg	9	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:228886519T>C	uc002vpq.2	-	6	652	c.605A>G	c.(604-606)GAC>GGC	p.D202G	SPHKAP_uc002vpp.2_Missense_Mutation_p.D202G|SPHKAP_uc010zlx.1_Missense_Mutation_p.D202G	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	202						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACAGTTCGTGTCATCCTCCAG	0.463													C	228886519	T	C	228886519	3	2	104	1	0	0	0	0	1	0	0	0	15047	1667	58	3	4525	3	SPHKAP	2	228886519	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	116812	228886519	14312854	1310	67924											
SPHKAP	80309	broad.mit.edu	37	chr2	228886659	228886659	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttgcacattggaccaaGcagatatctggcagccaagg	10	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:228886659G>A	uc002vpq.2	-	6	512	c.465C>T	c.(463-465)TGC>TGT	p.C155C	SPHKAP_uc002vpp.2_Silent_p.C155C|SPHKAP_uc010zlx.1_Silent_p.C155C	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	155						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATTGGACCAAGCAGATATCTG	0.428													A	228886659	G	A	228886659	2	1	104	1	0	0	0	0	0	0	0	1	15047	963	34	2		2	SPHKAP	2	228886659	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	140	228886659	14312714	1311	67925											
DNER	92737	broad.mit.edu	37	chr2	230253102	230253102	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcatttatgtcaatgtcGcactcttcacctagggagat	7	10	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:230253102G>A	uc002vpv.2	-	11	1881	c.1734C>T	c.(1732-1734)TGC>TGT	p.C578C		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	578	Extracellular (Potential).|EGF-like 9.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGTCAATGTCGCACTCTTCAC	0.502													A	230253102	G	A	230253102	2	1	104	1	0	0	0	0	0	0	0	1	4667	1079	38	1		1	DNER	2	230253102	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1366443	230253102	12946271	1312	67926											
SLC16A14	151473	broad.mit.edu	37	chr2	230910719	230910719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacactaatgcaaggcaagtCggctatgacgcccaggatca	10	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:230910719C>T	uc002vqd.1	-	4	1486	c.1123G>A	c.(1123-1125)GAC>AAC	p.D375N	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.D375N|SLC16A14_uc002vqf.2_Missense_Mutation_p.D375N	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	375	Extracellular (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CAAGGCAAGTCGGCTATGACG	0.443													T	230910719	C	T	230910719	3	4	104	1	0	0	0	0	1	0	0	0	14407	884	31	1	417	1	SLC16A14	2	230910719	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	657617	230910719	12288654	1313	67927											
SLC16A14	151473	broad.mit.edu	37	chr2	230911332	230911332	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagtcattaggaacgtaccGaatccggtccccgtggtgct	11	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:230911332G>A	uc002vqd.1	-	4	873	c.510C>T	c.(508-510)TTC>TTT	p.F170F	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Silent_p.F170F|SLC16A14_uc002vqf.2_Silent_p.F170F	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	170	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GGAACGTACCGAATCCGGTCC	0.602													A	230911332	G	A	230911332	2	1	104	1	0	0	0	0	0	0	0	1	14407	1049	37	1		1	SLC16A14	2	230911332	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	613	230911332	12288041	1314	67928											
SP110	3431	broad.mit.edu	37	chr2	231042332	231042332	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgttccttccttttccttcGacttcaaattcatttggtgt	6	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:231042332G>A	uc002vqh.3	-	14	1752	c.1512C>T	c.(1510-1512)GTC>GTT	p.V504V	SP110_uc002vqg.3_Silent_p.V504V|SP110_uc002vqi.3_Silent_p.V504V|SP110_uc010fxk.2_Silent_p.V502V|SP110_uc010fxj.2_Silent_p.V147V	NM_004509	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform a	504	SAND.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CTTTTCCTTCGACTTCAAATT	0.433													A	231042332	G	A	231042332	2	1	104	1	0	0	0	0	0	0	0	1	14961	1045	37	1		1	SP110	2	231042332	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	131000	231042332	12157041	1315	67929											
SP110	3431	broad.mit.edu	37	chr2	231081618	231081618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgctgaaaaagagcctcttCcatggctcttgtcatggtga	11	9	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:231081618C>T	uc002vqh.3	-	2	265	c.25G>A	c.(25-27)GAA>AAA	p.E9K	SP110_uc002vqg.3_Missense_Mutation_p.E9K|SP110_uc002vqi.3_Missense_Mutation_p.E9K|SP110_uc010fxk.2_Missense_Mutation_p.E9K	NM_004509	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform a	9	HSR.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		AGAGCCTCTTCCATGGCTCTT	0.363													T	231081618	C	T	231081618	3	4	104	1	0	0	0	0	1	0	0	0	14961	864	30	4	2252	4	SP110	2	231081618	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	39286	231081618	12117755	1316	67930											
SP140L	93349	broad.mit.edu	37	chr2	231249977	231249977	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagctggtctcgagtgaaAagaaggcgaacatgaatctg	13	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:231249977A>C	uc010fxm.1	+	9	833	c.742A>C	c.(742-744)AAG>CAG	p.K248Q	SP140L_uc010fxo.1_Missense_Mutation_p.K55Q	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	248						nucleus	DNA binding|metal ion binding			central_nervous_system(1)	1						CTCGAGTGAAAAGAAGGCGAA	0.463													C	231249977	A	C	231249977	3	2	104	1	0	0	0	0	1	0	0	0	14963	15	1	5	776	5	SP140L	2	231249977	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	168359	231249977	11949396	1317	67931											
SP100	6672	broad.mit.edu	37	chr2	231380147	231380147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggatgtggaataacaccgCtgcagctgacaagcagtttt	12	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:231380147C>T	uc002vqt.2	+	25	2573	c.2432C>T	c.(2431-2433)GCT>GTT	p.A811V	SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	811	HMG box 2.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AATAACACCGCTGCAGCTGAC	0.284													T	231380147	C	T	231380147	3	4	104	1	0	0	0	0	1	0	0	0	14960	797	28	2	2530	2	SP100	2	231380147	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	130170	231380147	11819226	1318	67932											
B3GNT7	93010	broad.mit.edu	37	chr2	232262514	232262514	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgacggtgttccaacgcagTctcacccctggtcagtttct	10	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:232262514T>C	uc002vrs.2	+	2	264	c.84T>C	c.(82-84)AGT>AGC	p.S28S		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal	28	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		TCCAACGCAGTCTCACCCCTG	0.617													C	232262514	T	C	232262514	2	2	104	1	0	0	0	0	0	0	0	1	1262	1664	58	3		3	B3GNT7	2	232262514	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	882367	232262514	10936859	1319	67933											
NCL	4691	broad.mit.edu	37	chr2	232320835	232320835	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaggcctttgacaaacagaGttttggatggctctgggaag	13	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:232320835G>T	uc002vru.2	-	12	1859	c.1718C>A	c.(1717-1719)ACT>AAT	p.T573N	SNORA75_uc002vrv.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	nucleolin	573	RRM 4.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			ovary(2)|pancreas(1)	3		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		GACAAACAGAGTTTTGGATGG	0.438													T	232320835	G	T	232320835	3	4	104	1	0	0	0	0	1	0	0	0	10226	1029	36	5	426	5	NCL	2	232320835	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	58321	232320835	10878538	1320	67934											
CHRNG	1146	broad.mit.edu	37	chr2	233407646	233407646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagatgctcctggacccagCggcgccagcccaggaagcag	13	15	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:233407646C>T	uc002vsx.1	+	7	680	c.659C>T	c.(658-660)GCG>GTG	p.A220V	CHRNG_uc010fye.1_Missense_Mutation_p.A168V	NM_005199	NP_005190	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma	220	Extracellular (Potential).				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CTGGACCCAGCGGCGCCAGCC	0.632													T	233407646	C	T	233407646	3	4	104	1	0	0	0	0	1	0	0	0	3396	768	27	1	685	1	CHRNG	2	233407646	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1086811	233407646	9791727	1321	67935											
GIGYF2	26058	broad.mit.edu	37	chr2	233655451	233655451	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggaacacatggaacgacgTcggaggtttgagtttgattt	14	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:233655451T>C	uc002vti.3	+	12	1093	c.756T>C	c.(754-756)CGT>CGC	p.R252R	GIGYF2_uc010zmj.1_Silent_p.R252R|GIGYF2_uc002vtg.2_Silent_p.R246R|GIGYF2_uc002vtj.3_Silent_p.R274R|GIGYF2_uc002vtk.3_Silent_p.R252R|GIGYF2_uc002vth.3_Silent_p.R246R|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Silent_p.R83R	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	252	Arg-rich.				cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TGGAACGACGTCGGAGGTTTG	0.478													C	233655451	T	C	233655451	2	2	104	1	0	0	0	0	0	0	0	1	6378	1654	58	3		3	GIGYF2	2	233655451	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	247805	233655451	9543922	1322	67936											
SAG	6295	broad.mit.edu	37	chr2	234217909	234217909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagatctcccgggacaaatCggtgagtggtgcacaagtga	14	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:234217909C>T	uc002vuh.2	+	2	462	c.74C>T	c.(73-75)TCG>TTG	p.S25L	SAG_uc002vug.2_Intron|SAG_uc010zmq.1_5'UTR	NM_000541	NP_000532	P10523	ARRS_HUMAN	S-arrestin	25					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			ovary(1)	1		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CGGGACAAATCGGTGAGTGGT	0.423													T	234217909	C	T	234217909	3	4	104	1	0	0	0	0	1	0	0	0	13808	898	31	1	76	1	SAG	2	234217909	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	562458	234217909	8981464	1323	67937											
SAG	6295	broad.mit.edu	37	chr2	234243632	234243632	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgccaccaaacagcacTttgaccaagacgctgacgct	8	13	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:234243632T>G	uc002vuh.2	+	11	1219	c.831T>G	c.(829-831)ACT>ACG	p.T277T	SAG_uc010zmq.1_Silent_p.T143T	NM_000541	NP_000532	P10523	ARRS_HUMAN	S-arrestin	277					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			ovary(1)	1		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CAAACAGCACTTTGACCAAGA	0.488													G	234243632	T	G	234243632	2	3	104	1	0	0	0	0	0	0	0	1	13808	1596	56	5		5	SAG	2	234243632	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	25723	234243632	8955741	1324	67938											
USP40	55230	broad.mit.edu	37	chr2	234394260	234394260	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttttctttttcctcttggTtatttgttggttctatggga	8	5	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:234394260T>C	uc010zmr.1	-	29	3454	c.3454A>G	c.(3454-3456)ACC>GCC	p.T1152A	USP40_uc002vul.2_Missense_Mutation_p.T136A	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	ubiquitin thioesterase 40	1140					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)|breast(1)	3		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TTCCTCTTGGTTATTTGTTGG	0.338													C	234394260	T	C	234394260	3	2	104	1	0	0	0	0	1	0	0	0	17069	1725	60	3	301	3	USP40	2	234394260	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	150628	234394260	8805113	1325	67939											
UGT1A9	54600	broad.mit.edu	37	chr2	234580975	234580975	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtttgtttaaagacaaaaAattagtagaatacttaaagg	8	2	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:234580975A>C	uc002vus.2	+	1	432	c.395A>C	c.(394-396)AAA>ACA	p.K132T	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.K132T	NM_021027	NP_066307	O60656	UD19_HUMAN	UDP glycosyltransferase 1 family, polypeptide A9	132					drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding	p.K132I(1)		ovary(3)|breast(1)|skin(1)	5		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398)	AAAGACAAAAAATTAGTAGAA	0.323													C	234580975	A	C	234580975	3	2	104	1	0	0	0	0	1	0	0	0	16949	14	1	5	397	5	UGT1A9	2	234580975	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	186715	234580975	8618398	1326	67940											
UGT1A9	54600	broad.mit.edu	37	chr2	234581149	234581149	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgctcctctttcctatgTccccagaattctcttagggt	6	15	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:234581149T>C	uc002vus.2	+	1	606	c.569T>C	c.(568-570)GTC>GCC	p.V190A	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.V190A	NM_021027	NP_066307	O60656	UD19_HUMAN	UDP glycosyltransferase 1 family, polypeptide A9	190					drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding			ovary(3)|breast(1)|skin(1)	5		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398)	CTTTCCTATGTCCCCAGAATT	0.483													C	234581149	T	C	234581149	3	2	104	1	0	0	0	0	1	0	0	0	16949	1667	58	3	571	3	UGT1A9	2	234581149	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	174	234581149	8618224	1327	67941											
UGT1A7	54577	broad.mit.edu	37	chr2	234590891	234590891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgctggacggcaccattgcGaagtgcattttctctattaa	9	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:234590891G>A	uc002vut.2	+	1	308	c.308G>A	c.(307-309)CGA>CAA	p.R103Q	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Missense_Mutation_p.R103Q	NM_019077	NP_061950	Q9HAW7	UD17_HUMAN	UDP glycosyltransferase 1 family, polypeptide A7	103					drug metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	drug binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|retinoic acid binding			ovary(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCACCATTGCGAAGTGCATTT	0.403													A	234590891	G	A	234590891	3	1	104	1	0	0	0	0	1	0	0	0	16947	1058	37	1	310	1	UGT1A7	2	234590891	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	9742	234590891	8608482	1328	67942											
UGT1A6	54578	broad.mit.edu	37	chr2	234602500	234602500	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcaactgtaagaagaggaaaGacttgtctcaggttggtggg	14	5	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:234602500G>T	uc002vuv.3	+	1	989	c.850G>T	c.(850-852)GAC>TAC	p.D284Y	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Missense_Mutation_p.D17Y|UGT1A6_uc010zmy.1_Missense_Mutation_p.D284Y	NM_001072	NP_001063	P19224	UD16_HUMAN	UDP glycosyltransferase 1 family, polypeptide A6	284					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity				0		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		GAAGAGGAAAGACTTGTCTCA	0.468													T	234602500	G	T	234602500	3	4	104	1	0	0	0	0	1	0	0	0	16946	942	33	5	852	5	UGT1A6	2	234602500	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	11609	234602500	8596873	1329	67943											
UGT1A3	54659	broad.mit.edu	37	chr2	234638079	234638079	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acactcaactgtactttgaaAcagaacattttctgaagaaa	5	8	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:234638079A>G	uc002vuy.2	+	1	307	c.307A>G	c.(307-309)ACA>GCA	p.T103A	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Missense_Mutation_p.T103A	NM_019093	NP_061966	P35503	UD13_HUMAN	UDP glycosyltransferase 1 family, polypeptide A3	103					flavonoid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding			ovary(1)	1		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GTACTTTGAAACAGAACATTT	0.408													G	234638079	A	G	234638079	3	3	104	1	0	0	0	0	1	0	0	0	16943	43	2	3	309	3	UGT1A3	2	234638079	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	35579	234638079	8561294	1330	67944											
SPP2	6694	broad.mit.edu	37	chr2	234975882	234975882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttacaggtctcatttcagacGagtccataagtgaacaattt	7	8	2	2	rs147173896	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:234975882G>A	uc002vvk.1	+	6	599	c.514G>A	c.(514-516)GAG>AAG	p.E172K	SPP2_uc010fyl.1_Missense_Mutation_p.E92K	NM_006944	NP_008875	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa precursor	172					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity				0		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		CATTTCAGACGAGTCCATAAG	0.398													A	234975882	G	A	234975882	3	1	104	1	0	0	0	0	1	0	0	0	15086	1059	37	1	536	1	SPP2	2	234975882	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	337803	234975882	8223491	1331	67945											
SH3BP4	23677	broad.mit.edu	37	chr2	235951091	235951091	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagcaggccaaagtggtgCgaggattccagctgaagctg	16	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:235951091C>T	uc002vvp.2	+	4	2071	c.1678C>T	c.(1678-1680)CGA>TGA	p.R560*	SH3BP4_uc010fym.2_Nonsense_Mutation_p.R560*|SH3BP4_uc002vvq.2_Nonsense_Mutation_p.R560*	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	560					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CAAAGTGGTGCGAGGATTCCA	0.557													T	235951091	C	T	235951091	4	4	104	1	0	0	0	0	0	1	0	0	14246	760	27	1	1684	1	SH3BP4	2	235951091	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	975209	235951091	7248282	1332	67946											
AGAP1	116987	broad.mit.edu	37	chr2	236659049	236659049	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatgacgccagggcgaggaAgctctccaacgacctgaaac	12	13	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:236659049A>C	uc002vvs.2	+	6	1185	c.590A>C	c.(589-591)AAG>ACG	p.K197T	AGAP1_uc002vvt.2_Missense_Mutation_p.K197T	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	197	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						AGGGCGAGGAAGCTCTCCAAC	0.537													C	236659049	A	C	236659049	3	2	104	1	0	0	0	0	1	0	0	0	366	72	3	5	612	5	AGAP1	2	236659049	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	707958	236659049	6540324	1333	67947											
ASB18	401036	broad.mit.edu	37	chr2	237172856	237172856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attggccagttctatcacagCgtccacaggcgtgatttcag	10	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:237172856C>T	uc010znh.1	-	1	133	c.133G>A	c.(133-135)GCT>ACT	p.A45T		NM_212556	NP_997721	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box-containing 18	45					intracellular signal transduction					ovary(1)	1		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		TCTATCACAGCGTCCACAGGC	0.517													T	237172856	C	T	237172856	3	4	104	1	0	0	0	0	1	0	0	0	1022	768	27	1	1290	1	ASB18	2	237172856	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	513807	237172856	6026517	1334	67948											
COL6A3	1293	broad.mit.edu	37	chr2	238275778	238275778	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattcgtcagtggggtcagaGttgtactggacaagccccac	12	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:238275778G>T	uc002vwl.2	-	11	5337	c.5052C>A	c.(5050-5052)AAC>AAA	p.N1684K	COL6A3_uc002vwo.2_Missense_Mutation_p.N1478K|COL6A3_uc010znj.1_Missense_Mutation_p.N1077K	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1684	VWFA 9.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGGGGTCAGAGTTGTACTGGA	0.488													T	238275778	G	T	238275778	3	4	104	1	0	0	0	0	1	0	0	0	3701	1020	36	5	4617	5	COL6A3	2	238275778	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1102922	238275778	4923595	1335	67949											
COL6A3	1293	broad.mit.edu	37	chr2	238287555	238287555	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggagctgcggcacgtgttCacggatcctgctgccgccag	14	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:238287555C>T	uc002vwl.2	-	6	2506	c.2221G>A	c.(2221-2223)GAA>AAA	p.E741K	COL6A3_uc002vwo.2_Missense_Mutation_p.E535K|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Missense_Mutation_p.E535K|COL6A3_uc002vwr.2_Missense_Mutation_p.E334K|COL6A3_uc010znk.1_Intron	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	741	VWFA 4.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCACGTGTTCACGGATCCTG	0.602													T	238287555	C	T	238287555	3	4	104	1	0	0	0	0	1	0	0	0	3701	835	29	4	7515	4	COL6A3	2	238287555	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	11777	238287555	4911818	1336	67950											
COL6A3	1293	broad.mit.edu	37	chr2	238289942	238289942	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcggttatgacttccctttTtgttggatgggtattgaaat	11	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:238289942T>G	uc002vwl.2	-	5	1798	c.1513A>C	c.(1513-1515)AAA>CAA	p.K505Q	COL6A3_uc002vwo.2_Missense_Mutation_p.K299Q|COL6A3_uc010znj.1_Missense_Mutation_p.K98Q|COL6A3_uc002vwq.2_Missense_Mutation_p.K299Q|COL6A3_uc002vwr.2_Missense_Mutation_p.K98Q|COL6A3_uc010znk.1_Missense_Mutation_p.K505Q	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	505	VWFA 3.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACTTCCCTTTTTGTTGGATGG	0.507													G	238289942	T	G	238289942	3	3	104	1	0	0	0	0	1	0	0	0	3701	1850	64	5	8227	5	COL6A3	2	238289942	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2387	238289942	4909431	1337	67951											
COL6A3	1293	broad.mit.edu	37	chr2	238303336	238303336	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatgaagtgaggtaaaattCtctaggttgaacatatgcat	9	5	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:238303336C>A	uc002vwl.2	-	3	888	c.603G>T	c.(601-603)GAG>GAT	p.E201D	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.E201D	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	201	VWFA 1.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGTAAAATTCTCTAGGTTGA	0.428													A	238303336	C	A	238303336	3	1	104	1	0	0	0	0	1	0	0	0	3701	912	32	5	9145	5	COL6A3	2	238303336	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	13394	238303336	4896037	1338	67952											
RBM44	375316	broad.mit.edu	37	chr2	238726139	238726139	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggaatatcacagtgcagaaGaacaagaatacataagtaac	8	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:238726139G>T	uc002vxi.3	+	3	712	c.580G>T	c.(580-582)GAA>TAA	p.E194*		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	193							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CAGTGCAGAAGAACAAGAATA	0.323													T	238726139	G	T	238726139	4	4	104	1	0	0	0	0	0	1	0	0	13138	943	33	5	586	5	RBM44	2	238726139	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	422803	238726139	4473234	1339	67953											
RBM44	375316	broad.mit.edu	37	chr2	238726184	238726184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcttttgaccaaacaaaaGcattagatatatctaatcca	3	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:238726184G>A	uc002vxi.3	+	3	757	c.625G>A	c.(625-627)GCA>ACA	p.A209T		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	208							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CCAAACAAAAGCATTAGATAT	0.343													A	238726184	G	A	238726184	3	1	104	1	0	0	0	0	1	0	0	0	13138	971	34	2	631	2	RBM44	2	238726184	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	45	238726184	4473189	1340	67954											
RBM44	375316	broad.mit.edu	37	chr2	238726378	238726378	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aattctgttatgttaagagaAtatcatgacctaaagcatga	7	5	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:238726378A>C	uc002vxi.3	+	3	951	c.819A>C	c.(817-819)GAA>GAC	p.E273D		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	272							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGTTAAGAGAATATCATGACC	0.363													C	238726378	A	C	238726378	3	2	104	1	0	0	0	0	1	0	0	0	13138	98	4	5	825	5	RBM44	2	238726378	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	194	238726378	4472995	1341	67955											
UBE2F	140739	broad.mit.edu	37	chr2	238940868	238940868	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttttttatttcaggatgtCgtttggggattaaactcttt	8	5	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:238940868C>T	uc002vxk.2	+	8	508	c.417C>T	c.(415-417)GTC>GTT	p.V139V	UBE2F_uc010znn.1_Silent_p.V107V|UBE2F_uc002vxl.2_RNA|UBE2F_uc010zno.1_RNA|UBE2F_uc010znp.1_Intron|SCLY_uc002vxm.3_5'UTR	NM_080678	NP_542409	Q969M7	UBE2F_HUMAN	NEDD8-conjugating enzyme	139					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding				0		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		TTCAGGATGTCGTTTGGGGAT	0.338													T	238940868	C	T	238940868	2	4	104	1	0	0	0	0	0	0	0	1	16852	871	31	1		1	UBE2F	2	238940868	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	214490	238940868	4258505	1342	67956											
KLHL30	377007	broad.mit.edu	37	chr2	239049818	239049818	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcctgggcatctgtgagttCggggagcagcaagggctgct	17	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:239049818C>T	uc002vxr.1	+	1	402	c.369C>T	c.(367-369)TTC>TTT	p.F123F		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	kelch-like 30	141											0		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TCTGTGAGTTCGGGGAGCAGC	0.657													T	239049818	C	T	239049818	2	4	104	1	0	0	0	0	0	0	0	1	8384	883	31	1		1	KLHL30	2	239049818	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	108950	239049818	4149555	1343	67957											
PER2	8864	broad.mit.edu	37	chr2	239161703	239161703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggttgagctgcaggggCgagctgctgcgggactgaaa	18	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:239161703C>T	uc002vyc.2	-	19	3198	c.2961G>A	c.(2959-2961)TCG>TCA	p.S987S	PER2_uc010znv.1_Silent_p.S987S	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	987					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GCTGCAGGGGCGAGCTGCTGC	0.682													T	239161703	C	T	239161703	2	4	104	1	0	0	0	0	0	0	0	1	11730	755	27	1		1	PER2	2	239161703	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	111885	239161703	4037670	1344	67958											
PPP1R7	5510	broad.mit.edu	37	chr2	242089964	242089964	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgcaggagatgatggagggTgagcggcccctgcgggcggc	20	10	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:242089964T>C	uc002wat.1	+	1	67	c.52_splice	c.e1+2	p.V18_splice	PPP1R7_uc010fzm.1_Intron|PPP1R7_uc002war.2_Splice_Site_p.V18_splice|PPP1R7_uc002was.2_Splice_Site_p.V18_splice|PPP1R7_uc002wau.1_Splice_Site_p.E18_splice|PASK_uc002wao.1_5'Flank|PASK_uc010zom.1_5'Flank|PASK_uc010fzl.1_5'Flank|PASK_uc010zon.1_5'Flank|PASK_uc002waq.2_5'Flank	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7							cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			ovary(3)	3		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TGATGGAGGGTGAGCGGCCCC	0.692													C	242089964	T	C	242089964	5	2	104	1	0	0	0	0	0	0	1	0	12376	1710	59	3	56	3	PPP1R7	2	242089964	Splice_Site	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2928261	242089964	1109409	1345	67959											
ANO7	50636	broad.mit.edu	37	chr2	242151518	242151518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgccacagaaatgcaccGcacccagaccaagttcgagg	9	15	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:242151518G>A	uc002wax.2	+	16	1836	c.1733G>A	c.(1732-1734)CGC>CAC	p.R578H		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	578	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						GAAATGCACCGCACCCAGACC	0.582													A	242151518	G	A	242151518	3	1	104	1	0	0	0	0	1	0	0	0	702	1087	38	1	1867	1	ANO7	2	242151518	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	61554	242151518	1047855	1346	67960											
ANO7	50636	broad.mit.edu	37	chr2	242163334	242163334	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggacaggttctttttggaacGaacggaacaaaggatgagca	13	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr2:242163334G>A	uc002wax.2	+	24	2812	c.2709G>A	c.(2707-2709)ACG>ACA	p.T903T		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	903	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						TTTTTGGAACGAACGGAACAA	0.602													A	242163334	G	A	242163334	2	1	104	1	0	0	0	0	0	0	0	1	702	1045	37	1		1	ANO7	2	242163334	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	11816	242163334	1036039	1347	67961											
CNTN6	27255	broad.mit.edu	37	chr3	1425079	1425079	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatagaaacactggaagagTgctgggctatgaggtaatcc	13	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:1425079T>G	uc003boz.2	+	19	2771	c.2504T>G	c.(2503-2505)GTG>GGG	p.V835G	CNTN6_uc011asj.1_Missense_Mutation_p.V763G|CNTN6_uc003bpa.2_Missense_Mutation_p.V835G	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	835	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ACTGGAAGAGTGCTGGGCTAT	0.443													G	1425079	T	G	1425079	3	3	104	1	0	0	0	0	1	0	0	0	3645	1696	59	5	2574	5	CNTN6	3	1425079	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08		1425079	196597351	1348	67962											
IL5RA	3568	broad.mit.edu	37	chr3	3137010	3137010	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatccattccttgtattgtgTatttttacttcataatcaaa	3	7	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:3137010T>C	uc011ask.1	-	9	1472	c.828A>G	c.(826-828)ATA>ATG	p.I276M	IL5RA_uc010hbq.2_Intron|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Missense_Mutation_p.I276M|IL5RA_uc011asl.1_Missense_Mutation_p.I276M|IL5RA_uc011asm.1_Missense_Mutation_p.I276M|IL5RA_uc010hbt.2_Missense_Mutation_p.I276M|IL5RA_uc011asn.1_Missense_Mutation_p.I276M|IL5RA_uc010hbu.2_Missense_Mutation_p.I276M|IL5RA_uc010hbp.2_5'Flank	NM_000564	NP_000555	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha isoform 1	276	Extracellular (Potential).				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			ovary(1)	1				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		TTGTATTGTGTATTTTTACTT	0.323													C	3137010	T	C	3137010	3	2	104	1	0	0	0	0	1	0	0	0	7700	1628	57	3	480	3	IL5RA	3	3137010	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1711931	3137010	194885420	1349	67963											
EDEM1	9695	broad.mit.edu	37	chr3	5241340	5241340	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgatcaacacagtttcatttGacaaagattccaccgtccaa	5	11	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:5241340G>A	uc003bqi.2	+	3	778	c.646G>A	c.(646-648)GAC>AAC	p.D216N	EDEM1_uc011asz.1_Intron|EDEM1_uc003bqh.2_Missense_Mutation_p.D216N	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like	216	Lumenal (Potential).				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			ovary(2)|breast(1)	3				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		AGTTTCATTTGACAAAGATTC	0.348													A	5241340	G	A	5241340	3	1	104	1	0	0	0	0	1	0	0	0	4911	1290	45	4	656	4	EDEM1	3	5241340	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2104330	5241340	192781090	1350	67964											
GRM7	2917	broad.mit.edu	37	chr3	6903450	6903450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcttactttcgtccaggcGctcatccagaaggacacctc	8	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:6903450G>A	uc003bqm.2	+	1	649	c.375G>A	c.(373-375)GCG>GCA	p.A125A	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.A125A|GRM7_uc003bql.2_Silent_p.A125A	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	125	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	TCGTCCAGGCGCTCATCCAGA	0.602													A	6903450	G	A	6903450	2	1	104	1	0	0	0	0	0	0	0	1	6802	1074	38	1		1	GRM7	3	6903450	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1662110	6903450	191118980	1351	67965											
GRM7	2917	broad.mit.edu	37	chr3	7721736	7721736	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgtgttgtgtctcctagCtctacatacaaactaccacg	7	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:7721736C>A	uc003bqm.2	+	9	2726	c.2452C>A	c.(2452-2454)CTC>ATC	p.L818I	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.L818I|GRM7_uc003bql.2_Missense_Mutation_p.L818I|GRM7_uc003bqn.1_Missense_Mutation_p.L401I	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	818	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	TGTCTCCTAGCTCTACATACA	0.433													A	7721736	C	A	7721736	3	1	104	1	0	0	0	0	1	0	0	0	6802	811	28	5	2486	5	GRM7	3	7721736	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	818286	7721736	190300694	1352	67966											
RAD18	56852	broad.mit.edu	37	chr3	8983301	8983301	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctgaatttgcttttattttCttttatcaacaactctgatg	5	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:8983301C>A	uc003brd.2	-	5	531	c.454G>T	c.(454-456)GAA>TAA	p.E152*	RAD18_uc003bre.2_RNA	NM_020165	NP_064550	Q9NS91	RAD18_HUMAN	postreplication repair protein hRAD18p	152					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			skin(3)|ovary(2)	5				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		CTTTTATTTTCTTTTATCAAC	0.443								Rad6_pathway					A	8983301	C	A	8983301	4	1	104	1	0	0	0	0	0	1	0	0	12980	922	32	5	1069	5	RAD18	3	8983301	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1261565	8983301	189039129	1353	67967											
RAD18	56852	broad.mit.edu	37	chr3	8990233	8990233	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagttttataggacagaaatTttcttatacagagagagcag	10	4	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:8990233T>G	uc003brd.2	-	3	232	c.155A>C	c.(154-156)AAA>ACA	p.K52T	RAD18_uc003bre.2_RNA	NM_020165	NP_064550	Q9NS91	RAD18_HUMAN	postreplication repair protein hRAD18p	52	RING-type.				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			skin(3)|ovary(2)	5				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		GGACAGAAATTTTCTTATACA	0.313								Rad6_pathway					G	8990233	T	G	8990233	3	3	104	1	0	0	0	0	1	0	0	0	12980	1841	64	5	1376	5	RAD18	3	8990233	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	6932	8990233	189032197	1354	67968											
SETD5	55209	broad.mit.edu	37	chr3	9482139	9482139	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccctgaatttgttttctacaGaattctccctctgaagcaca	5	12	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:9482139G>T	uc003brt.2	+	8	1003	c.568_splice	c.e8-1	p.N190_splice	SETD5_uc003brs.1_Splice_Site_p.N171_splice|SETD5_uc003bru.2_Splice_Site_p.N92_splice|SETD5_uc003brv.2_Splice_Site_p.N79_splice|SETD5_uc010hck.2_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.2_5'Flank	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5											ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GTTTTCTACAGAATTCTCCCT	0.423													T	9482139	G	T	9482139	5	4	104	1	0	0	0	0	0	0	1	0	14134	956	33	5	589	5	SETD5	3	9482139	Splice_Site	SNP	G	TCGA-BR-8680-01A-11D-2394-08	491906	9482139	188540291	1355	67969											
CPNE9	151835	broad.mit.edu	37	chr3	9760228	9760228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctatttccagagcctgCgcacagtgcagctctatggg	12	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:9760228C>T	uc003bsd.2	+	16	1354	c.1183C>T	c.(1183-1185)CGC>TGC	p.R395C		NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	copine-like protein	395	VWFA.							p.R395C(1)		ovary(2)	2	Medulloblastoma(99;0.227)					CCAGAGCCTGCGCACAGTGCA	0.567													T	9760228	C	T	9760228	3	4	104	1	0	0	0	0	1	0	0	0	3819	768	27	1	1245	1	CPNE9	3	9760228	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	278089	9760228	188262202	1356	67970											
TADA3	10474	broad.mit.edu	37	chr3	9831496	9831496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggtttttggatttgggcCgtcctgggccagggcccggc	17	10	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:9831496C>T	uc003bsx.1	-	3	907	c.359G>A	c.(358-360)CGG>CAG	p.R120Q	TADA3_uc010hcn.1_Missense_Mutation_p.R120Q|TADA3_uc003bsy.2_Missense_Mutation_p.R120Q|ARPC4_uc003bsz.1_5'Flank|ARPC4_uc003bta.1_5'Flank|ARPC4_uc003btb.1_5'Flank|ARPC4_uc003btc.1_5'Flank	NM_006354	NP_006345	O75528	TADA3_HUMAN	transcriptional adaptor 3 isoform a	120					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity				0						GGATTTGGGCCGTCCTGGGCC	0.562													T	9831496	C	T	9831496	3	4	104	1	0	0	0	0	1	0	0	0	15509	652	23	1	971	1	TADA3	3	9831496	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	71268	9831496	188190934	1357	67971											
CIDEC	63924	broad.mit.edu	37	chr3	9911628	9911628	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agggagtatgtatcataaaaAgtcgccttcacgttcaggca	10	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:9911628A>C	uc003btq.2	-	5	632	c.492T>G	c.(490-492)ACT>ACG	p.T164T	CIDEC_uc003bto.2_Intron|CIDEC_uc010hcp.2_Intron|CIDEC_uc003btp.2_Silent_p.T174T|CIDEC_uc003btr.2_Silent_p.T90T|CIDEC_uc003bts.2_Silent_p.T90T	NM_022094	NP_071377	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	164					apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				central_nervous_system(1)	1	Medulloblastoma(99;0.227)					TATCATAAAAAGTCGCCTTCA	0.502													C	9911628	A	C	9911628	2	2	104	1	0	0	0	0	0	0	0	1	3427	59	3	5		5	CIDEC	3	9911628	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	80132	9911628	188110802	1358	67972											
IL17RE	132014	broad.mit.edu	37	chr3	9950918	9950918	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcatcctacctgcaagaGgacactgtgaggcgcaaaaa	11	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:9950918G>A	uc003btu.2	+	9	870	c.753G>A	c.(751-753)GAG>GAA	p.E251E	CIDEC_uc003bto.2_Intron|IL17RE_uc003btv.2_Silent_p.E251E|IL17RE_uc011atn.1_Intron|IL17RE_uc003btw.2_Silent_p.E251E|IL17RE_uc003btx.2_Silent_p.E135E|IL17RE_uc010hcq.2_Silent_p.E251E|IL17RE_uc003bty.2_RNA	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E isoform 1	251	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane	receptor activity			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		ACCTGCAAGAGGACACTGTGA	0.532													A	9950918	G	A	9950918	2	1	104	1	0	0	0	0	0	0	0	1	7643	991	35	4		4	IL17RE	3	9950918	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	39290	9950918	188071512	1359	67973											
IL17RC	84818	broad.mit.edu	37	chr3	9959714	9959714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaggtgccagaaggagaccGactgtgacctctgtctgcgt	14	10	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:9959714G>A	uc003bua.2	+	3	684	c.448G>A	c.(448-450)GAC>AAC	p.D150N	CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_RNA|IL17RC_uc011ato.1_RNA|IL17RC_uc010hcs.2_Missense_Mutation_p.D79N|IL17RC_uc003btz.2_Missense_Mutation_p.D79N|IL17RC_uc011atp.1_5'UTR|IL17RC_uc003bud.2_5'UTR|IL17RC_uc003bub.2_Missense_Mutation_p.D79N|IL17RC_uc010hct.2_Missense_Mutation_p.D79N|IL17RC_uc010hcu.2_Missense_Mutation_p.D79N|IL17RC_uc010hcv.2_Missense_Mutation_p.D79N|IL17RC_uc011atq.1_Missense_Mutation_p.D79N|IL17RC_uc003buc.2_5'UTR	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C isoform 1 precursor	150	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|pancreas(1)	2						GAAGGAGACCGACTGTGACCT	0.622													A	9959714	G	A	9959714	3	1	104	1	0	0	0	0	1	0	0	0	7641	1058	37	1	458	1	IL17RC	3	9959714	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	8796	9959714	188062716	1360	67974											
C3orf24	115795	broad.mit.edu	37	chr3	10146117	10146117	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaactctgaaagtcccggtCcactttggtggctgagctgt	12	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:10146117C>T	uc003buz.2	-	2	567	c.342G>A	c.(340-342)TGG>TGA	p.W114*	C3orf24_uc003bva.1_Nonsense_Mutation_p.W114*	NM_173472	NP_775743	Q96PS1	CC024_HUMAN	hypothetical protein LOC115795	114											0				OV - Ovarian serous cystadenocarcinoma(96;0.196)		AAGTCCCGGTCCACTTTGGTG	0.517													T	10146117	C	T	10146117	4	4	104	1	0	0	0	0	0	1	0	0	2217	856	30	4	195	4	C3orf24	3	10146117	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	186403	10146117	187876313	1361	67975											
SEC13	6396	broad.mit.edu	37	chr3	10354352	10354352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttccggtcataggagcacGatgccaggatgttgccgtac	12	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:10354352G>A	uc003bvn.2	-	4	346	c.227C>T	c.(226-228)TCG>TTG	p.S76L	SEC13_uc003bvl.2_Missense_Mutation_p.S8L|SEC13_uc003bvm.2_Missense_Mutation_p.S62L|SEC13_uc003bvp.2_Missense_Mutation_p.S79L|SEC13_uc003bvo.2_Missense_Mutation_p.S122L|SEC13_uc003bvq.1_Missense_Mutation_p.S62L|SEC13_uc003bvr.1_Missense_Mutation_p.S62L|SEC13_uc011aul.1_Missense_Mutation_p.S76L	NM_183352	NP_899195	P55735	SEC13_HUMAN	SEC13 protein isoform 1	76	WD 2.				COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			ovary(1)	1						ATAGGAGCACGATGCCAGGAT	0.572													A	10354352	G	A	10354352	3	1	104	1	0	0	0	0	1	0	0	0	13980	1059	37	1	765	1	SEC13	3	10354352	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	208235	10354352	187668078	1362	67976											
HRH1	3269	broad.mit.edu	37	chr3	11301359	11301359	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgctctggttctatgccaaGatctacaaggccgtacgaca	9	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:11301359G>T	uc010hdr.2	+	2	978	c.636G>T	c.(634-636)AAG>AAT	p.K212N	HRH1_uc010hds.2_Missense_Mutation_p.K212N|HRH1_uc010hdt.2_Missense_Mutation_p.K212N|HRH1_uc003bwb.3_Missense_Mutation_p.K212N	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	212	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			large_intestine(1)|ovary(1)	2					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCTATGCCAAGATCTACAAGG	0.512													T	11301359	G	T	11301359	3	4	104	1	0	0	0	0	1	0	0	0	7355	933	33	5	638	5	HRH1	3	11301359	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	947007	11301359	186721071	1363	67977											
MKRN2	23609	broad.mit.edu	37	chr3	12613843	12613843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaagtcttgcacccattcGacccagagcagaggaaggct	11	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:12613843G>A	uc003bxd.2	+	4	669	c.613G>A	c.(613-615)GAC>AAC	p.D205N	MKRN2_uc003bxe.2_Missense_Mutation_p.D203N|MKRN2_uc011aus.1_Missense_Mutation_p.D162N	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	205	Makorin-type Cys-His.					intracellular	ligase activity|nucleic acid binding|zinc ion binding				0						GCACCCATTCGACCCAGAGCA	0.522													A	12613843	G	A	12613843	3	1	104	1	0	0	0	0	1	0	0	0	9607	1058	37	1	627	1	MKRN2	3	12613843	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1312484	12613843	185408587	1364	67978											
CAND2	23066	broad.mit.edu	37	chr3	12858123	12858123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcggatgctggatcctgaGccatatgttggagagatgtc	13	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:12858123G>A	uc003bxk.2	+	10	1741	c.1692G>A	c.(1690-1692)GAG>GAA	p.E564E	CAND2_uc003bxj.2_Silent_p.E471E	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	564					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						TGGATCCTGAGCCATATGTTG	0.627													A	12858123	G	A	12858123	2	1	104	1	0	0	0	0	0	0	0	1	2616	962	34	2		2	CAND2	3	12858123	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	244280	12858123	185164307	1365	67979											
CAND2	23066	broad.mit.edu	37	chr3	12858461	12858461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccacactggcagccctggAcgccctggcccagagccagg	14	17	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:12858461A>G	uc003bxk.2	+	10	2079	c.2030A>G	c.(2029-2031)GAC>GGC	p.D677G	CAND2_uc003bxj.2_Missense_Mutation_p.D584G	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	677	HEAT 14.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						GCAGCCCTGGACGCCCTGGCC	0.662													G	12858461	A	G	12858461	3	3	104	1	0	0	0	0	1	0	0	0	2616	275	10	3	2068	3	CAND2	3	12858461	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	338	12858461	185163969	1366	67980											
CAND2	23066	broad.mit.edu	37	chr3	12858543	12858543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgcctgccctggtcaaCgagagcgacatgcatgtggc	14	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:12858543C>T	uc003bxk.2	+	10	2161	c.2112C>T	c.(2110-2112)AAC>AAT	p.N704N	CAND2_uc003bxj.2_Silent_p.N611N	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	704	HEAT 15.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						CCCTGGTCAACGAGAGCGACA	0.677													T	12858543	C	T	12858543	2	4	104	1	0	0	0	0	0	0	0	1	2616	535	19	1		1	CAND2	3	12858543	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	82	12858543	185163887	1367	67981											
IQSEC1	9922	broad.mit.edu	37	chr3	12955032	12955032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggcagtagcagaccaaccGacggtggggcagagagagca	16	11	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:12955032G>A	uc003bxt.2	-	9	2263	c.2254C>T	c.(2254-2256)CGG>TGG	p.R752W	IQSEC1_uc003bxu.3_Missense_Mutation_p.R630W|IQSEC1_uc011auw.1_Missense_Mutation_p.R738W	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	752					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						CAGACCAACCGACGGTGGGGC	0.607													A	12955032	G	A	12955032	3	1	104	1	0	0	0	0	1	0	0	0	7817	1057	37	1	1206	1	IQSEC1	3	12955032	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	96489	12955032	185067398	1368	67982											
NUP210	23225	broad.mit.edu	37	chr3	13372091	13372091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgcacaactggaaccttttCgggtccatccaggacgcggt	11	12	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:13372091C>T	uc003bxv.1	-	30	4062	c.3979G>A	c.(3979-3981)GAA>AAA	p.E1327K		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1327	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					GGAACCTTTTCGGGTCCATCC	0.517													T	13372091	C	T	13372091	3	4	104	1	0	0	0	0	1	0	0	0	10760	893	31	1	1728	1	NUP210	3	13372091	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	417059	13372091	184650339	1369	67983											
NUP210	23225	broad.mit.edu	37	chr3	13417924	13417924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggaagcacagtttcaattCggatgttctggaaggtgagg	14	6	2	1	rs141201901		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:13417924C>T	uc003bxv.1	-	10	1243	c.1160G>A	c.(1159-1161)CGA>CAA	p.R387Q	NUP210_uc003bxx.2_Missense_Mutation_p.R59Q	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	387	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					AGTTTCAATTCGGATGTTCTG	0.542													T	13417924	C	T	13417924	3	4	104	1	0	0	0	0	1	0	0	0	10760	884	31	1	4627	1	NUP210	3	13417924	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	45833	13417924	184604506	1370	67984											
FBLN2	2199	broad.mit.edu	37	chr3	13655629	13655629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcatagtacctgaggttcGccgacctccagagcccgcag	10	15	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:13655629G>A	uc011avb.1	+	5	1819	c.1694G>A	c.(1693-1695)CGC>CAC	p.R565H	FBLN2_uc011auz.1_Missense_Mutation_p.R591H|FBLN2_uc011ava.1_Missense_Mutation_p.R565H|FBLN2_uc011avc.1_Missense_Mutation_p.R565H|uc003byc.1_5'Flank	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	565						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCTGAGGTTCGCCGACCTCCA	0.592													A	13655629	G	A	13655629	3	1	104	1	0	0	0	0	1	0	0	0	5699	1087	38	1	398	1	FBLN2	3	13655629	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	237705	13655629	184366801	1371	67985											
TMEM43	79188	broad.mit.edu	37	chr3	14176277	14176277	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggtcccctcaggcctcatCgacaaagtcgacaacttcaa	7	15	3	0	rs145024252		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:14176277C>T	uc003byk.2	+	8	845	c.591C>T	c.(589-591)ATC>ATT	p.I197I	TMEM43_uc003byl.1_Silent_p.I77I	NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	197	Lumenal (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				ovary(1)	1						CAGGCCTCATCGACAAAGTCG	0.453													T	14176277	C	T	14176277	2	4	104	1	0	0	0	0	0	0	0	1	16164	874	31	1		1	TMEM43	3	14176277	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	520648	14176277	183846153	1372	67986											
LSM3	27258	broad.mit.edu	37	chr3	14223069	14223069	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttttatcagcaacaaactAccaacactgtagaggagccc	6	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:14223069A>G	uc003byn.2	+	2	60	c.31A>G	c.(31-33)ACC>GCC	p.T11A	XPC_uc011ave.1_5'Flank|XPC_uc011avf.1_5'Flank|XPC_uc011avg.1_5'Flank	NM_014463	NP_055278	P62310	LSM3_HUMAN	Lsm3 protein	11					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	catalytic step 2 spliceosome|cytosol	protein binding|RNA binding			ovary(1)	1						gcaacaaactaccAACACTGT	0.224													G	14223069	A	G	14223069	3	3	104	1	0	0	0	0	1	0	0	0	9057	391	14	3	37	3	LSM3	3	14223069	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	46792	14223069	183799361	1373	67987											
GRIP2	80852	broad.mit.edu	37	chr3	14535218	14535218	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggcgatcggggggcccgGctgctgtgtgccgtgtgcgg	20	12	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:14535218G>T	uc011avi.1	-	25	3381	c.3381C>A	c.(3379-3381)AGC>AGA	p.S1127R	GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Missense_Mutation_p.S658R	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	1029					synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1						GGGGGGCCCGGCTGCTGTGTG	0.677													T	14535218	G	T	14535218	3	4	104	1	0	0	0	0	1	0	0	0	6788	1194	42	5	47	5	GRIP2	3	14535218	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	312149	14535218	183487212	1374	67988											
METTL6	131965	broad.mit.edu	37	chr3	15457386	15457386	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggcggtacatgatccagaaGatcatctttagtcagatcac	9	9	4	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:15457386G>A	uc003bzs.1	-	4	682	c.424C>T	c.(424-426)CTT>TTT	p.L142F	METTL6_uc011avp.1_Missense_Mutation_p.L97F|METTL6_uc003bzt.1_Missense_Mutation_p.L142F|METTL6_uc010hen.1_5'Flank	NM_152396	NP_689609	Q8TCB7	METL6_HUMAN	methyltransferase like 6	142							methyltransferase activity				0						TGATCCAGAAGATCATCTTTA	0.373													A	15457386	G	A	15457386	3	1	104	1	0	0	0	0	1	0	0	0	9504	942	33	4	442	4	METTL6	3	15457386	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	922168	15457386	182565044	1375	67989											
BTD	686	broad.mit.edu	37	chr3	15686453	15686453	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccatagtaagtttttaaaaAttttgtcaggcgatccgtac	7	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:15686453A>T	uc003cah.2	+	4	1193	c.1090A>T	c.(1090-1092)ATT>TTT	p.I364F	BTD_uc011avv.1_Missense_Mutation_p.I366F|BTD_uc011avw.1_Missense_Mutation_p.I366F|BTD_uc011avx.1_Missense_Mutation_p.I344F	NM_000060	NP_000051	P43251	BTD_HUMAN	biotinidase precursor	364					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity				0						GTTTTTAAAAATTTTGTCAGG	0.473													T	15686453	A	T	15686453	3	4	104	1	0	0	0	0	1	0	0	0	1550	101	4	5	1104	5	BTD	3	15686453	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	229067	15686453	182335977	1376	67990											
BTD	686	broad.mit.edu	37	chr3	15686848	15686848	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacttcagtacttcctatatCtttcctttgtttctgacctc	3	12	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:15686848C>T	uc003cah.2	+	4	1588	c.1485C>T	c.(1483-1485)ATC>ATT	p.I495I	BTD_uc011avv.1_Silent_p.I497I|BTD_uc011avw.1_Silent_p.I497I|BTD_uc011avx.1_Silent_p.I475I	NM_000060	NP_000051	P43251	BTD_HUMAN	biotinidase precursor	495					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity				0						CTTCCTATATCTTTCCTTTGT	0.512													T	15686848	C	T	15686848	2	4	104	1	0	0	0	0	0	0	0	1	1550	903	32	4		4	BTD	3	15686848	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	395	15686848	182335582	1377	67991											
GALNTL2	117248	broad.mit.edu	37	chr3	16237352	16237352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcctggtccactctcctgCggactgtacacagcatcctc	9	16	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:16237352C>T	uc003car.3	+	2	1100	c.625C>T	c.(625-627)CGG>TGG	p.R209W	GALNTL2_uc003caq.3_5'UTR	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	209	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1						CACTCTCCTGCGGACTGTACA	0.607													T	16237352	C	T	16237352	3	4	104	1	0	0	0	0	1	0	0	0	6222	759	27	1	631	1	GALNTL2	3	16237352	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	550504	16237352	181785078	1378	67992											
GALNTL2	117248	broad.mit.edu	37	chr3	16242239	16242239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgctgggggccaccagaGccaccggggatgtgctcgtc	17	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:16242239G>A	uc003car.3	+	3	1295	c.820G>A	c.(820-822)GCC>ACC	p.A274T	GALNTL2_uc003caq.3_Missense_Mutation_p.A7T	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	274	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1						GGCCACCAGAGCCACCGGGGA	0.612													A	16242239	G	A	16242239	3	1	104	1	0	0	0	0	1	0	0	0	6222	971	34	2	830	2	GALNTL2	3	16242239	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4887	16242239	181780191	1379	67993											
RFTN1	23180	broad.mit.edu	37	chr3	16475491	16475491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacagctccaggagctgggCgggcaggtcacgcagggagg	19	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:16475491C>T	uc003cay.2	-	3	481	c.199G>A	c.(199-201)GCC>ACC	p.A67T	RFTN1_uc010hes.2_Missense_Mutation_p.A31T	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	67						plasma membrane				ovary(3)|central_nervous_system(1)	4						AGGAGCTGGGCGGGCAGGTCA	0.667													T	16475491	C	T	16475491	3	4	104	1	0	0	0	0	1	0	0	0	13258	768	27	1	1569	1	RFTN1	3	16475491	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	233252	16475491	181546939	1380	67994											
SATB1	6304	broad.mit.edu	37	chr3	18427971	18427971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attcaagctcctttccctttCgtcctggtatattcggtctc	6	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:18427971C>T	uc003cbh.2	-	8	3074	c.1339G>A	c.(1339-1341)GAA>AAA	p.E447K	SATB1_uc003cbi.2_Missense_Mutation_p.E447K|SATB1_uc003cbj.2_Missense_Mutation_p.E447K	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	447	CUT 1.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						CTTTCCCTTTCGTCCTGGTAT	0.567													T	18427971	C	T	18427971	3	4	104	1	0	0	0	0	1	0	0	0	13853	893	31	1	968	1	SATB1	3	18427971	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1952480	18427971	179594459	1381	67995											
EFHB	151651	broad.mit.edu	37	chr3	19924060	19924060	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acctcttcttttgatctggtCttgaagaagtctctttcaaa	6	9	6	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:19924060C>A	uc003cbl.3	-	12	2506	c.2310G>T	c.(2308-2310)AAG>AAT	p.K770N	EFHB_uc003cbm.2_Missense_Mutation_p.K640N	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	770					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0						TTGATCTGGTCTTGAAGAAGT	0.318													A	19924060	C	A	19924060	3	1	104	1	0	0	0	0	1	0	0	0	4945	912	32	5	199	5	EFHB	3	19924060	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1496089	19924060	178098370	1382	67996											
NR1D2	9975	broad.mit.edu	37	chr3	24003483	24003483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatagctgttcggtttggtcGtattcctaagcgtgaaaaac	10	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:24003483G>A	uc003ccs.2	+	5	852	c.533G>A	c.(532-534)CGT>CAT	p.R178H	NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.R103H	NM_005126	NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	178					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			urinary_tract(1)|kidney(1)|skin(1)	3						CGGTTTGGTCGTATTCCTAAG	0.343													A	24003483	G	A	24003483	3	1	104	1	0	0	0	0	1	0	0	0	10616	1145	40	1	551	1	NR1D2	3	24003483	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4079423	24003483	174018947	1383	67997											
THRB	7068	broad.mit.edu	37	chr3	24169075	24169075	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agagacatgcccaggtcaaaGatggcgtctgacaccacccc	10	14	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:24169075G>T	uc003ccx.3	-	10	1408	c.1059C>A	c.(1057-1059)ATC>ATA	p.I353I	THRB_uc010hfe.2_Silent_p.I353I|THRB_uc003ccy.3_Silent_p.I353I|THRB_uc003ccz.3_Silent_p.I348I	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	353	Ligand-binding.|Interaction with NR2F6.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCAGGTCAAAGATGGCGTCTG	0.527													T	24169075	G	T	24169075	2	4	104	1	0	0	0	0	0	0	0	1	15872	932	33	5		5	THRB	3	24169075	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	165592	24169075	173853355	1384	67998											
THRB	7068	broad.mit.edu	37	chr3	24188225	24188225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacattcctggcactgatttCgcgtgactttgtctatgaca	9	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:24188225C>T	uc003ccx.3	-	7	822	c.473G>A	c.(472-474)CGA>CAA	p.R158Q	THRB_uc010hfe.2_Missense_Mutation_p.R158Q|THRB_uc003ccy.3_Missense_Mutation_p.R158Q|THRB_uc003ccz.3_Missense_Mutation_p.R153Q	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	158	NR C4-type.|Nuclear receptor.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)	GCACTGATTTCGCGTGACTTT	0.363													T	24188225	C	T	24188225	3	4	104	1	0	0	0	0	1	0	0	0	15872	884	31	1	932	1	THRB	3	24188225	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	19150	24188225	173834205	1385	67999											
RARB	5915	broad.mit.edu	37	chr3	25542770	25542770	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaggaatcgatgccaatActgtcgactccagaagtgct	9	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:25542770A>C	uc011awl.1	+	3	491	c.425A>C	c.(424-426)TAC>TCC	p.Y142S	RARB_uc003cdi.1_Missense_Mutation_p.Y23S|RARB_uc003cdh.2_Missense_Mutation_p.Y135S	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	142	Nuclear receptor.|NR C4-type.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CGATGCCAATACTGTCGACTC	0.393													C	25542770	A	C	25542770	3	2	104	1	0	0	0	0	1	0	0	0	13053	391	14	5	414	5	RARB	3	25542770	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1354545	25542770	172479660	1386	68000											
LRRC3B	116135	broad.mit.edu	37	chr3	26751587	26751587	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgaaggccagggccagaAttgccaacaacccctggcac	10	15	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:26751587A>C	uc003cdp.2	+	2	1013	c.424A>C	c.(424-426)ATT>CTT	p.I142L	LRRC3B_uc003cdq.2_Missense_Mutation_p.I142L	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B precursor	142						integral to membrane				pancreas(2)|ovary(1)|skin(1)	4						CAGGGCCAGAATTGCCAACAA	0.498													C	26751587	A	C	26751587	3	2	104	1	0	0	0	0	1	0	0	0	8996	101	4	5	426	5	LRRC3B	3	26751587	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1208817	26751587	171270843	1387	68001											
SLC4A7	9497	broad.mit.edu	37	chr3	27439829	27439829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaccccaagaatacaccacGaagttttttacattcctgga	6	11	0	2	rs142923476	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:27439829G>A	uc003cdv.2	-	17	2487	c.2416C>T	c.(2416-2418)CGT>TGT	p.R806C	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.R687C|SLC4A7_uc011aww.1_Missense_Mutation_p.R815C|SLC4A7_uc011awx.1_Missense_Mutation_p.R802C|SLC4A7_uc011awy.1_Missense_Mutation_p.R798C|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.R687C|SLC4A7_uc011axb.1_Missense_Mutation_p.R802C|SLC4A7_uc010hfl.2_Missense_Mutation_p.R356C|SLC4A7_uc003cdw.2_Missense_Mutation_p.R682C	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	806	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						AATACACCACGAAGTTTTTTA	0.333													A	27439829	G	A	27439829	3	1	104	1	0	0	0	0	1	0	0	0	14658	1058	37	1	1264	1	SLC4A7	3	27439829	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	688242	27439829	170582601	1388	68002											
SLC4A7	9497	broad.mit.edu	37	chr3	27446338	27446338	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctgcagaatttatataaAattttttcaaacactagaac	3	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:27446338A>C	uc003cdv.2	-	14	2102	c.2031T>G	c.(2029-2031)ATT>ATG	p.I677M	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.I558M|SLC4A7_uc011aww.1_Missense_Mutation_p.I686M|SLC4A7_uc011awx.1_Missense_Mutation_p.I673M|SLC4A7_uc011awy.1_Missense_Mutation_p.I669M|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.I558M|SLC4A7_uc011axb.1_Missense_Mutation_p.I673M|SLC4A7_uc010hfl.2_Missense_Mutation_p.I227M|SLC4A7_uc003cdw.2_Missense_Mutation_p.I553M	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	677	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						ATTTATATAAAATTTTTTCAA	0.328													C	27446338	A	C	27446338	3	2	104	1	0	0	0	0	1	0	0	0	14658	10	1	5	1661	5	SLC4A7	3	27446338	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	6509	27446338	170576092	1389	68003											
SLC4A7	9497	broad.mit.edu	37	chr3	27465554	27465554	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagtcaacagtactattttCtctgcttccaccacttccat	4	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:27465554C>A	uc003cdv.2	-	8	1284	c.1213G>T	c.(1213-1215)GAA>TAA	p.E405*	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Nonsense_Mutation_p.E286*|SLC4A7_uc011aww.1_Nonsense_Mutation_p.E414*|SLC4A7_uc011awx.1_Nonsense_Mutation_p.E401*|SLC4A7_uc011awy.1_Nonsense_Mutation_p.E397*|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Nonsense_Mutation_p.E286*|SLC4A7_uc011axb.1_Nonsense_Mutation_p.E401*|SLC4A7_uc010hfm.2_Nonsense_Mutation_p.E286*|SLC4A7_uc010hfl.2_Missense_Mutation_p.E7D|SLC4A7_uc003cdw.2_Nonsense_Mutation_p.E281*	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	405	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						GTACTATTTTCTCTGCTTCCA	0.343													A	27465554	C	A	27465554	4	1	104	1	0	0	0	0	0	1	0	0	14658	922	32	5	2503	5	SLC4A7	3	27465554	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	19216	27465554	170556876	1390	68004											
ZCWPW2	152098	broad.mit.edu	37	chr3	28454570	28454570	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgccttaatggataaagAaaaattggatgttaagattg	9	2	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:28454570A>C	uc003ceh.2	+	3	179	c.11A>C	c.(10-12)GAA>GCA	p.E4A	ZCWPW2_uc003cei.2_Missense_Mutation_p.E4A	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	4							zinc ion binding			ovary(2)	2						ATGGATAAAGAAAAATTGGAT	0.303													C	28454570	A	C	28454570	3	2	104	1	0	0	0	0	1	0	0	0	17595	246	9	5	13	5	ZCWPW2	3	28454570	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	989016	28454570	169567860	1391	68005											
ZCWPW2	152098	broad.mit.edu	37	chr3	28562602	28562602	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagaggaaataaatatgggaGaaaaggtaatattgatagtt	12	0	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:28562602G>A	uc003ceh.2	+	9	1072	c.904G>A	c.(904-906)GAA>AAA	p.E302K	ZCWPW2_uc003cei.2_Missense_Mutation_p.E302K|ZCWPW2_uc010hfo.2_Missense_Mutation_p.E107K	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	302							zinc ion binding			ovary(2)	2						AAATATGGGAGAAAAGGTAAT	0.338													A	28562602	G	A	28562602	3	1	104	1	0	0	0	0	1	0	0	0	17595	943	33	4	930	4	ZCWPW2	3	28562602	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	108032	28562602	169459828	1392	68006											
RBMS3	27303	broad.mit.edu	37	chr3	29529985	29529985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaaaaacacaaatcagtGcaaaggtatgtgtaagggca	10	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:29529985G>A	uc003cel.2	+	3	532	c.302G>A	c.(301-303)TGC>TAC	p.C101Y	RBMS3_uc003cek.2_Missense_Mutation_p.C101Y|RBMS3_uc010hfq.2_Missense_Mutation_p.C101Y|RBMS3_uc003cem.2_Missense_Mutation_p.C100Y|RBMS3_uc010hfr.2_Missense_Mutation_p.C101Y	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	101	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				ACAAATCAGTGCAAAGGTATG	0.398													A	29529985	G	A	29529985	3	1	104	1	0	0	0	0	1	0	0	0	13150	1319	46	2	312	2	RBMS3	3	29529985	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	967383	29529985	168492445	1393	68007											
RBMS3	27303	broad.mit.edu	37	chr3	29628640	29628640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttgacagtcctgcagccGcacagaaagcggtagcatct	10	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:29628640G>A	uc003cel.2	+	4	573	c.343G>A	c.(343-345)GCA>ACA	p.A115T	RBMS3_uc003cek.2_Missense_Mutation_p.A115T|RBMS3_uc010hfq.2_Missense_Mutation_p.A115T|RBMS3_uc003cem.2_Missense_Mutation_p.A114T|RBMS3_uc010hfr.2_Missense_Mutation_p.A115T	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	115	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				TCCTGCAGCCGCACAGAAAGC	0.383													A	29628640	G	A	29628640	3	1	104	1	0	0	0	0	1	0	0	0	13150	1087	38	1	357	1	RBMS3	3	29628640	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	98655	29628640	168393790	1394	68008											
GADL1	339896	broad.mit.edu	37	chr3	30842400	30842400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctagataaagcaagagcacGattaactctttcttcaaggc	7	10	3	2	rs138172857		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:30842400G>A	uc003cep.2	-	12	1278	c.1231C>T	c.(1231-1233)CGT>TGT	p.R411C	GADL1_uc003ceq.1_Missense_Mutation_p.R411C	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	411					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding				0					Pyridoxal Phosphate(DB00114)	GCAAGAGCACGATTAACTCTT	0.294													A	30842400	G	A	30842400	3	1	104	1	0	0	0	0	1	0	0	0	6185	1058	37	1	350	1	GADL1	3	30842400	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1213760	30842400	167180030	1395	68009											
DYNC1LI1	51143	broad.mit.edu	37	chr3	32568352	32568352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagaaactgtaactggttttCgtgtaattctgtctagttct	9	6	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:32568352C>T	uc003cfb.3	-	13	1599	c.1511G>A	c.(1510-1512)CGA>CAA	p.R504Q	DYNC1LI1_uc011axh.1_Missense_Mutation_p.R388Q	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain	504					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			ovary(1)	1						AACTGGTTTTCGTGTAATTCT	0.363													T	32568352	C	T	32568352	3	4	104	1	0	0	0	0	1	0	0	0	4844	884	31	1	64	1	DYNC1LI1	3	32568352	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1725952	32568352	165454078	1396	68010											
TRIM71	131405	broad.mit.edu	37	chr3	32932065	32932065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctgcagccccaggaagacGaccgagtcatgttcacaccc	9	16	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:32932065G>A	uc003cff.2	+	4	1432	c.1369G>A	c.(1369-1371)GAC>AAC	p.D457N		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	457					multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						CCAGGAAGACGACCGAGTCAT	0.617													A	32932065	G	A	32932065	3	1	104	1	0	0	0	0	1	0	0	0	16541	1058	37	1	1383	1	TRIM71	3	32932065	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	363713	32932065	165090365	1397	68011											
SUSD5	26032	broad.mit.edu	37	chr3	33194681	33194681	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taggacagggtggccatgggAgattcctctgtgatgaatct	14	7	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:33194681A>C	uc003cfo.1	-	5	1861	c.1443T>G	c.(1441-1443)TCT>TCG	p.S481S		NM_015551	NP_056366	O60279	SUSD5_HUMAN	sushi domain containing 5 precursor	481	Extracellular (Potential).				cell adhesion	integral to membrane	hyaluronic acid binding			ovary(1)|central_nervous_system(1)	2						TGGCCATGGGAGATTCCTCTG	0.527													C	33194681	A	C	33194681	2	2	104	1	0	0	0	0	0	0	0	1	15408	291	11	5		5	SUSD5	3	33194681	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	262616	33194681	164827749	1398	68012											
ARPP21	10777	broad.mit.edu	37	chr3	35748466	35748466	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgttttactttgctggcagAccagagcaaaggttttgtga	11	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:35748466A>G	uc003cgb.2	+	10	951	c.687A>G	c.(685-687)ATA>ATG	p.I229M	ARPP21_uc003cga.2_Missense_Mutation_p.I229M|ARPP21_uc011axy.1_Missense_Mutation_p.I229M|ARPP21_uc003cgf.2_Missense_Mutation_p.I65M	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	229						cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						TTGCTGGCAGACCAGAGCAAA	0.333													G	35748466	A	G	35748466	3	3	104	1	0	0	0	0	1	0	0	0	978	289	10	3	730	3	ARPP21	3	35748466	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2553785	35748466	162273964	1399	68013											
ARPP21	10777	broad.mit.edu	37	chr3	35748563	35748563	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ataactctagtattgataaaGaagacaatcaggttggttct	8	5	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:35748563G>T	uc003cgb.2	+	10	1048	c.784G>T	c.(784-786)GAA>TAA	p.E262*	ARPP21_uc003cga.2_Nonsense_Mutation_p.E262*|ARPP21_uc011axy.1_Nonsense_Mutation_p.E262*|ARPP21_uc003cgf.2_Nonsense_Mutation_p.E98*	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	262						cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						TATTGATAAAGAAGACAATCA	0.418													T	35748563	G	T	35748563	4	4	104	1	0	0	0	0	0	1	0	0	978	943	33	5	827	5	ARPP21	3	35748563	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	97	35748563	162273867	1400	68014											
ARPP21	10777	broad.mit.edu	37	chr3	35770832	35770832	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcaggctcctcaggatcGctgtcccgcacccatccacc	9	18	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:35770832G>A	uc003cgb.2	+	15	1527	c.1263G>A	c.(1261-1263)TCG>TCA	p.S421S	ARPP21_uc003cga.2_Silent_p.S367S|ARPP21_uc011axy.1_Silent_p.S387S|ARPP21_uc003cgf.2_Silent_p.S222S|ARPP21_uc003cgg.2_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	421	Ser-rich.					cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						CCTCAGGATCGCTGTCCCGCA	0.542													A	35770832	G	A	35770832	2	1	104	1	0	0	0	0	0	0	0	1	978	1074	38	1		1	ARPP21	3	35770832	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	22269	35770832	162251598	1401	68015											
STAC	6769	broad.mit.edu	37	chr3	36570207	36570207	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggccaggagacataattactCttttagaggattccaatgaa	9	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:36570207C>A	uc003cgh.1	+	9	979	c.940C>A	c.(940-942)CTT>ATT	p.L314I	STAC_uc011aya.1_Missense_Mutation_p.L253I	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	314	SH3.				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						CATAATTACTCTTTTAGAGGA	0.294													A	36570207	C	A	36570207	3	1	104	1	0	0	0	0	1	0	0	0	15238	913	32	5	974	5	STAC	3	36570207	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	799375	36570207	161452223	1402	68016											
DCLK3	85443	broad.mit.edu	37	chr3	36779482	36779482	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctgggcctctgtcctctttCttgtccatgctcttgctggg	10	13	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:36779482C>A	uc003cgi.2	-	2	1160	c.669G>T	c.(667-669)AAG>AAT	p.K223N		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	223						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						TGTCCTCTTTCTTGTCCATGC	0.577													A	36779482	C	A	36779482	3	1	104	1	0	0	0	0	1	0	0	0	4293	912	32	5	1293	5	DCLK3	3	36779482	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	209275	36779482	161242948	1403	68017											
TRANK1	9881	broad.mit.edu	37	chr3	36874329	36874329	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ataatcaatttctttaagttCttctgctaagattttaggga	6	5	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:36874329C>A	uc003cgj.2	-	12	5265	c.4963G>T	c.(4963-4965)GAA>TAA	p.E1655*		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2205					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TCTTTAAGTTCTTCTGCTAAG	0.373													A	36874329	C	A	36874329	4	1	104	1	0	0	0	0	0	1	0	0	16451	922	32	5	2176	5	TRANK1	3	36874329	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	94847	36874329	161148101	1404	68018											
TRANK1	9881	broad.mit.edu	37	chr3	36875232	36875232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgcagcttctgctaagcGtttccgagacttcaagaaca	9	11	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:36875232G>A	uc003cgj.2	-	12	4362	c.4060C>T	c.(4060-4062)CGC>TGC	p.R1354C		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1904					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TCTGCTAAGCGTTTCCGAGAC	0.512													A	36875232	G	A	36875232	3	1	104	1	0	0	0	0	1	0	0	0	16451	1145	40	1	3079	1	TRANK1	3	36875232	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	903	36875232	161147198	1405	68019											
GOLGA4	2803	broad.mit.edu	37	chr3	37366074	37366074	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagatggtaacaaagaacaGgaacagacaaagcaaatctt	9	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:37366074G>T	uc003cgv.2	+	14	3001	c.2697G>T	c.(2695-2697)CAG>CAT	p.Q899H	GOLGA4_uc010hgr.1_Missense_Mutation_p.Q460H|GOLGA4_uc003cgw.2_Missense_Mutation_p.Q921H|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.Q780H	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	899	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						ACAAAGAACAGGAACAGACAA	0.333													T	37366074	G	T	37366074	3	4	104	1	0	0	0	0	1	0	0	0	6555	991	35	5	2821	5	GOLGA4	3	37366074	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	490842	37366074	160656356	1406	68020											
VILL	50853	broad.mit.edu	37	chr3	38039783	38039783	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatcctggaccagggtggCttcaagatctatgtgtggca	12	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:38039783C>T	uc003chj.2	+	9	1156	c.870C>T	c.(868-870)GGC>GGT	p.G290G	VILL_uc003chl.2_Silent_p.G290G|VILL_uc010hgu.2_Silent_p.G120G	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	290	Gelsolin-like 3.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ACCAGGGTGGCTTCAAGATCT	0.602													T	38039783	C	T	38039783	2	4	104	1	0	0	0	0	0	0	0	1	17162	784	28	2		2	VILL	3	38039783	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	673709	38039783	159982647	1407	68021											
PLCD1	5333	broad.mit.edu	37	chr3	38051969	38051969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgtcctggtagacacggCggtgtgccaggctgaaggcg	16	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:38051969C>T	uc003chn.2	-	6	999	c.875G>A	c.(874-876)CGC>CAC	p.R292H	PLCD1_uc003chm.2_Missense_Mutation_p.R313H	NM_006225	NP_006216	P51178	PLCD1_HUMAN	phospholipase C, delta 1 isoform 2	292					intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GTAGACACGGCGGTGTGCCAG	0.637													T	38051969	C	T	38051969	3	4	104	1	0	0	0	0	1	0	0	0	12031	768	27	1	1435	1	PLCD1	3	38051969	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	12186	38051969	159970461	1408	68022											
SCN5A	6331	broad.mit.edu	37	chr3	38593041	38593041	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttctggatgatgtccgagaGcacagtgcctgtgggaaaca	13	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:38593041G>T	uc003cio.2	-	28	5016	c.4822C>A	c.(4822-4824)CTC>ATC	p.L1608I	SCN5A_uc003cin.2_Missense_Mutation_p.L1607I|SCN5A_uc003cil.3_Missense_Mutation_p.L1608I|SCN5A_uc010hhi.2_Missense_Mutation_p.L1590I|SCN5A_uc010hhk.2_Missense_Mutation_p.L1575I|SCN5A_uc011ayr.1_Missense_Mutation_p.L1554I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1608	Helical; Name=S3 of repeat IV; (Potential).				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ATGTCCGAGAGCACAGTGCCT	0.607													T	38593041	G	T	38593041	3	4	104	1	0	0	0	0	1	0	0	0	13922	971	34	5	1232	5	SCN5A	3	38593041	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	541072	38593041	159429389	1409	68023											
SCN5A	6331	broad.mit.edu	37	chr3	38628975	38628975	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggatgacgatgatgctgtcGaagatgttccagccctgttg	13	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:38628975G>A	uc003cio.2	-	15	2546	c.2352C>T	c.(2350-2352)TTC>TTT	p.F784F	SCN5A_uc003cin.2_Silent_p.F784F|SCN5A_uc003cil.3_Silent_p.F784F|SCN5A_uc010hhi.2_Silent_p.F784F|SCN5A_uc010hhk.2_Silent_p.F784F|SCN5A_uc011ayr.1_Silent_p.F784F|SCN5A_uc010hhj.1_Silent_p.F395F	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	784	Helical; Name=S3 of repeat II; (Potential).				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGATGCTGTCGAAGATGTTCC	0.562													A	38628975	G	A	38628975	2	1	104	1	0	0	0	0	0	0	0	1	13922	1049	37	1		1	SCN5A	3	38628975	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	35934	38628975	159393455	1410	68024											
SCN10A	6336	broad.mit.edu	37	chr3	38793713	38793713	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcattcacaaactcaccgaGacatcgacagctccaggggc	9	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:38793713G>A	uc003ciq.2	-	11	1752	c.1752C>T	c.(1750-1752)GTC>GTT	p.V584V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	584					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AACTCACCGAGACATCGACAG	0.483													A	38793713	G	A	38793713	2	1	104	1	0	0	0	0	0	0	0	1	13912	929	33	4		4	SCN10A	3	38793713	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	164738	38793713	159228717	1411	68025											
SCN11A	11280	broad.mit.edu	37	chr3	38961476	38961476	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aattcaggtgaattttctttCttttcaaagcaatggtctga	7	6	5	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:38961476C>A	uc011ays.1	-	7	1108	c.909G>T	c.(907-909)AAG>AAT	p.K303N		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	303	I.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AATTTTCTTTCTTTTCAAAGC	0.338													A	38961476	C	A	38961476	3	1	104	1	0	0	0	0	1	0	0	0	13913	912	32	5	4546	5	SCN11A	3	38961476	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	167763	38961476	159060954	1412	68026											
XIRP1	165904	broad.mit.edu	37	chr3	39229433	39229433	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcacctccgactatctgctCtctgctaacagaggtcaggg	9	13	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:39229433C>T	uc003cjk.1	-	2	1725	c.1504G>A	c.(1504-1506)GAG>AAG	p.E502K	XIRP1_uc003cji.2_Missense_Mutation_p.E502K|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	502							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACTATCTGCTCTCTGCTAACA	0.607													T	39229433	C	T	39229433	3	4	104	1	0	0	0	0	1	0	0	0	17426	922	32	4	4031	4	XIRP1	3	39229433	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	267957	39229433	158792997	1413	68027											
CCR8	1237	broad.mit.edu	37	chr3	39373970	39373970	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcctcctgtttgtattcagtCttctgggaaacagcctggtc	10	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:39373970C>A	uc010hhr.2	+	2	286	c.148C>A	c.(148-150)CTT>ATT	p.L50I	CCR8_uc003cjm.2_Intron	NM_005201	NP_005192	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	50	Helical; Name=1; (Potential).				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			ovary(1)|lung(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TGTATTCAGTCTTCTGGGAAA	0.488													A	39373970	C	A	39373970	3	1	104	1	0	0	0	0	1	0	0	0	2947	913	32	5	150	5	CCR8	3	39373970	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	144537	39373970	158648460	1414	68028											
CTNNB1	1499	broad.mit.edu	37	chr3	41266826	41266826	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaattcctgtattacaggTggtggttaataaggctgcag	12	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:41266826T>G	uc010hia.1	+	6	653	c.497T>G	c.(496-498)GTG>GGG	p.V166G	CTNNB1_uc003ckp.2_Missense_Mutation_p.V166G|CTNNB1_uc003ckq.2_Missense_Mutation_p.V166G|CTNNB1_uc003ckr.2_Missense_Mutation_p.V166G|CTNNB1_uc011azf.1_Missense_Mutation_p.V159G|CTNNB1_uc011azg.1_Missense_Mutation_p.V94G|uc010hib.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	166	ARM 1.				adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.M1_V173del(1)|p.I35_K170del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GTATTACAGGTGGTGGTTAAT	0.418		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				G	41266826	T	G	41266826	3	3	104	1	0	0	0	0	1	0	0	0	4016	1710	59	5	511	5	CTNNB1	3	41266826	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1892856	41266826	156755604	1415	68029											
CTNNB1	1499	broad.mit.edu	37	chr3	41277291	41277291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctcgggatgttcacaaccGaattgttatcagaggactaa	10	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:41277291G>A	uc010hia.1	+	12	1916	c.1760G>A	c.(1759-1761)CGA>CAA	p.R587Q	CTNNB1_uc003ckp.2_Missense_Mutation_p.R587Q|CTNNB1_uc003ckq.2_Missense_Mutation_p.R587Q|CTNNB1_uc003ckr.2_Missense_Mutation_p.R587Q|CTNNB1_uc011azf.1_Missense_Mutation_p.R580Q|CTNNB1_uc011azg.1_Missense_Mutation_p.R515Q|CTNNB1_uc003cks.2_3'UTR|CTNNB1_uc003ckt.1_Missense_Mutation_p.R22Q	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	587					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GTTCACAACCGAATTGTTATC	0.408		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				A	41277291	G	A	41277291	3	1	104	1	0	0	0	0	1	0	0	0	4016	1058	37	1	1798	1	CTNNB1	3	41277291	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	10465	41277291	156745139	1416	68030											
ULK4	54986	broad.mit.edu	37	chr3	41756778	41756778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttctgtcacaacttgaggtCgaaatacctgtgtgatgaga	10	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:41756778C>T	uc003ckv.3	-	25	2786	c.2585G>A	c.(2584-2586)CGA>CAA	p.R862Q		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	862	HEAT 1.						ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AACTTGAGGTCGAAATACCTG	0.338													T	41756778	C	T	41756778	3	4	104	1	0	0	0	0	1	0	0	0	16975	884	31	1	1294	1	ULK4	3	41756778	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	479487	41756778	156265652	1417	68031											
ULK4	54986	broad.mit.edu	37	chr3	41957545	41957545	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agctttaggacgagaagaatCtataaatgaattaatttcca	7	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:41957545C>A	uc003ckv.3	-	8	929	c.728_splice	c.e8-1	p.D243_splice	ULK4_uc003ckw.2_Splice_Site_p.D243_splice|ULK4_uc003ckx.1_Splice_Site_p.D243_splice	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4								ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CGAGAAGAATCTATAAATGAA	0.269													A	41957545	C	A	41957545	5	1	104	1	0	0	0	0	0	0	1	0	16975	927	32	5	3220	5	ULK4	3	41957545	Splice_Site	SNP	C	TCGA-BR-8680-01A-11D-2394-08	200767	41957545	156064885	1418	68032											
CCK	885	broad.mit.edu	37	chr3	42305056	42305056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgggatctgcgggaggcaCcggctgcgtcagggcgccag	19	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:42305056C>T	uc003clc.1	-	2	276	c.67G>A	c.(67-69)GTG>ATG	p.V23M	CCK_uc003cld.1_Missense_Mutation_p.V23M|CCK_uc011azk.1_Missense_Mutation_p.V23M	NM_000729	NP_000720	P06307	CCKN_HUMAN	cholecystokinin preproprotein	23					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity			central_nervous_system(1)	1		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		GCGGGAGGCACCGGCTGCGTC	0.697													T	42305056	C	T	42305056	3	4	104	1	0	0	0	0	1	0	0	0	2879	507	18	4	288	4	CCK	3	42305056	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	347511	42305056	155717374	1419	68033											
NKTR	4820	broad.mit.edu	37	chr3	42680746	42680746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacaggaaagcagcatgtccGaaagtaaagtgttgggtgaa	13	5	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:42680746G>A	uc003clo.2	+	13	3697	c.3550G>A	c.(3550-3552)GAA>AAA	p.E1184K	NKTR_uc003clm.1_Missense_Mutation_p.E931K|NKTR_uc003clp.2_Missense_Mutation_p.E931K|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.E1074K|NKTR_uc003clr.1_Missense_Mutation_p.E931K|NKTR_uc003cls.2_Missense_Mutation_p.E884K	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1184					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CAGCATGTCCGAAAGTAAAGT	0.488													A	42680746	G	A	42680746	3	1	104	1	0	0	0	0	1	0	0	0	10448	1059	37	1	3596	1	NKTR	3	42680746	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	375690	42680746	155341684	1420	68034											
NKTR	4820	broad.mit.edu	37	chr3	42684043	42684043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggatggtacagcagaggccGaaccagaagccggagcagtt	15	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:42684043G>A	uc003clo.2	+	14	4244	c.4097G>A	c.(4096-4098)CGA>CAA	p.R1366Q	NKTR_uc003clp.2_Missense_Mutation_p.R1113Q|NKTR_uc011azp.1_Missense_Mutation_p.R165Q|NKTR_uc003cls.2_Missense_Mutation_p.R1066Q	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1366					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AGCAGAGGCCGAACCAGAAGC	0.433													A	42684043	G	A	42684043	3	1	104	1	0	0	0	0	1	0	0	0	10448	1058	37	1	4147	1	NKTR	3	42684043	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3297	42684043	155338387	1421	68035											
KBTBD5	131377	broad.mit.edu	37	chr3	42730438	42730438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacccatgcagaccgcccGctcactctttggggccactg	11	17	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:42730438G>A	uc003clv.1	+	4	1599	c.1499G>A	c.(1498-1500)CGC>CAC	p.R500H		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	500	Kelch 3.									ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CAGACCGCCCGCTCACTCTTT	0.587													A	42730438	G	A	42730438	3	1	104	1	0	0	0	0	1	0	0	0	7996	1087	38	1	1513	1	KBTBD5	3	42730438	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	46395	42730438	155291992	1422	68036											
CYP8B1	1582	broad.mit.edu	37	chr3	42916094	42916094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagggttgaggaagcgatcGtacttgaagacggtgggctc	16	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:42916094G>A	uc003cmh.2	-	1	1540	c.1215C>T	c.(1213-1215)TAC>TAT	p.Y405Y	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Silent_p.Y405Y	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B,	405					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GGAAGCGATCGTACTTGAAGA	0.557													A	42916094	G	A	42916094	2	1	104	1	0	0	0	0	0	0	0	1	4198	1140	40	1		1	CYP8B1	3	42916094	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	185656	42916094	155106336	1423	68037											
ZNF662	389114	broad.mit.edu	37	chr3	42956704	42956704	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acatcttattcgacatcaaaGaatccatactggggaaagac	7	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:42956704G>A	uc003cmi.2	+	5	1491	c.1139G>A	c.(1138-1140)AGA>AAA	p.R380K	ZNF662_uc003cmk.2_Missense_Mutation_p.R406K|ZNF662_uc003cmj.2_Missense_Mutation_p.R272K	NM_207404	NP_997287	Q6ZS27	ZN662_HUMAN	zinc finger protein 662 isoform 1	380	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CGACATCAAAGAATCCATACT	0.463													A	42956704	G	A	42956704	3	1	104	1	0	0	0	0	1	0	0	0	18068	942	33	4	1340	4	ZNF662	3	42956704	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	40610	42956704	155065726	1424	68038											
C3orf39	84892	broad.mit.edu	37	chr3	43121449	43121449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaggcgccatgcactgacGcctggcaccgtgcctcccgc	13	18	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:43121449G>A	uc003cmq.1	-	2	1616	c.1475C>T	c.(1474-1476)GCG>GTG	p.A492V	C3orf39_uc003cmr.1_Missense_Mutation_p.A492V	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	glycosyltransferase precursor	492						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)|skin(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		ATGCACTGACGCCTGGCACCG	0.622													A	43121449	G	A	43121449	3	1	104	1	0	0	0	0	1	0	0	0	2229	1087	38	1	271	1	C3orf39	3	43121449	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	164745	43121449	154900981	1425	68039											
ZNF445	353274	broad.mit.edu	37	chr3	44490137	44490137	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attccctcagaaacacttgtCgcaggacatcctgatgacac	7	13	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:44490137C>T	uc003cnf.2	-	8	1374	c.1026G>A	c.(1024-1026)GCG>GCA	p.A342A	ZNF445_uc011azv.1_Silent_p.A330A|ZNF445_uc011azw.1_Silent_p.A342A	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	342					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AAACACTTGTCGCAGGACATC	0.413													T	44490137	C	T	44490137	2	4	104	1	0	0	0	0	0	0	0	1	17915	871	31	1		1	ZNF445	3	44490137	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1368688	44490137	153532293	1426	68040											
ZNF445	353274	broad.mit.edu	37	chr3	44490186	44490186	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgcttcttccaaaggtTcctgatttaagatgaatttg	7	7	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:44490186T>C	uc003cnf.2	-	8	1325	c.977A>G	c.(976-978)GAA>GGA	p.E326G	ZNF445_uc011azv.1_Missense_Mutation_p.E314G|ZNF445_uc011azw.1_Missense_Mutation_p.E326G	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	326					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TTCCAAAGGTTCCTGATTTAA	0.403													C	44490186	T	C	44490186	3	2	104	1	0	0	0	0	1	0	0	0	17915	1783	62	3	2122	3	ZNF445	3	44490186	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	49	44490186	153532244	1427	68041											
ZNF167	55888	broad.mit.edu	37	chr3	44612641	44612641	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatagctccagccttatggTacatcagagaacccatactg	7	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:44612641T>C	uc010hin.2	+	6	2427	c.2039T>C	c.(2038-2040)GTA>GCA	p.V680A	ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.V680A|ZNF167_uc003cnk.2_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	680	C2H2-type 11; degenerate.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		AGCCTTATGGTACATCAGAGA	0.418													C	44612641	T	C	44612641	3	2	104	1	0	0	0	0	1	0	0	0	17738	1638	57	3	2057	3	ZNF167	3	44612641	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	122455	44612641	153409789	1428	68042											
ZNF167	55888	broad.mit.edu	37	chr3	44612818	44612818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacttttaatcaccaccagcGaactcacactggagagaagt	7	12	2	1	rs151170690		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:44612818G>A	uc010hin.2	+	6	2604	c.2216G>A	c.(2215-2217)CGA>CAA	p.R739Q	ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.R739Q|ZNF167_uc003cnk.2_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	739	C2H2-type 13.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		CACCACCAGCGAACTCACACT	0.458													A	44612818	G	A	44612818	3	1	104	1	0	0	0	0	1	0	0	0	17738	1058	37	1	2234	1	ZNF167	3	44612818	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	177	44612818	153409612	1429	68043											
ZNF35	7584	broad.mit.edu	37	chr3	44700935	44700935	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatccacactggggagaaGccctttgcctgtaacgactg	12	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:44700935G>A	uc003cnq.2	+	4	1301	c.1080G>A	c.(1078-1080)AAG>AAA	p.K360K	ZNF35_uc003cnr.2_Silent_p.K200K	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	360					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CTGGGGAGAAGCCCTTTGCCT	0.443													A	44700935	G	A	44700935	2	1	104	1	0	0	0	0	0	0	0	1	17859	962	34	2		2	ZNF35	3	44700935	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	88117	44700935	153321495	1430	68044											
ZNF35	7584	broad.mit.edu	37	chr3	44700985	44700985	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttacccagagtgcaaatcTtattgtacatcagcgaagcc	7	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:44700985T>G	uc003cnq.2	+	4	1351	c.1130T>G	c.(1129-1131)CTT>CGT	p.L377R	ZNF35_uc003cnr.2_Missense_Mutation_p.L217R	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	377	C2H2-type 6.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		AGTGCAAATCTTATTGTACAT	0.468													G	44700985	T	G	44700985	3	3	104	1	0	0	0	0	1	0	0	0	17859	1609	56	5	1140	5	ZNF35	3	44700985	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	50	44700985	153321445	1431	68045											
ZNF35	7584	broad.mit.edu	37	chr3	44701252	44701252	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atacctacttattcatcagaGaattcataatggagaaaaac	5	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:44701252G>T	uc003cnq.2	+	4	1618	c.1397G>T	c.(1396-1398)AGA>ATA	p.R466I	ZNF35_uc003cnr.2_Missense_Mutation_p.R306I	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	466	C2H2-type 9.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		ATTCATCAGAGAATTCATAAT	0.463													T	44701252	G	T	44701252	3	4	104	1	0	0	0	0	1	0	0	0	17859	942	33	5	1407	5	ZNF35	3	44701252	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	267	44701252	153321178	1432	68046											
ZNF502	91392	broad.mit.edu	37	chr3	44763241	44763241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaaaacactcaaatcttaCgcaacatcagagaattcaca	4	11	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:44763241C>T	uc011baa.1	+	4	1187	c.932C>T	c.(931-933)ACG>ATG	p.T311M	ZNF502_uc003cns.2_Missense_Mutation_p.T311M|ZNF502_uc011bab.1_Missense_Mutation_p.T311M|ZNF502_uc003cnt.2_Missense_Mutation_p.T311M	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	311	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TCAAATCTTACGCAACATCAG	0.403													T	44763241	C	T	44763241	3	4	104	1	0	0	0	0	1	0	0	0	17947	536	19	1	938	1	ZNF502	3	44763241	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	61989	44763241	153259189	1433	68047											
KIF15	56992	broad.mit.edu	37	chr3	44816777	44816777	+	Nonsense_Mutation	SNP	C	C	T													atgccatcaaagtttttgtgCgaattcgtcctcctgcagaa							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:44816777C>T	uc003cnx.3	+	3	243	c.94C>T	c.(94-96)CGA>TGA	p.R32*	KIF15_uc010hiq.2_5'UTR	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	32	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AGTTTTTGTGCGAATTCGTCC	0.428													T	44816777	C	T	44816777	4	4	104	1	0	0	0	0	0	1	0	0	8277	760	27	1	104	1	KIF15	3	44816777	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	53536	44816777	153205653	1434	68048	316	2									
KIF15	56992	broad.mit.edu	37	chr3	44816783	44816783	+	Missense_Mutation	SNP	C	C	T													tcaaagtttttgtgcgaattCgtcctcctgcagaaagatct					rs144425306	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:44816783C>T	uc003cnx.3	+	3	249	c.100C>T	c.(100-102)CGT>TGT	p.R34C	KIF15_uc010hiq.2_5'UTR	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	34	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TGTGCGAATTCGTCCTCCTGC	0.438													T	44816783	C	T	44816783	3	4	104	1	0	0	0	0	1	0	0	0	8277	884	31	1	110	1	KIF15	3	44816783	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	6	44816783	153205647	1435	68049	316	2									
EXOSC7	23016	broad.mit.edu	37	chr3	45038655	45038655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatcgctaacaccctctatCggatatttaacaataaaagc	5	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:45038655C>T	uc003coi.2	+	4	360	c.331C>T	c.(331-333)CGG>TGG	p.R111W	EXOSC7_uc003coh.1_Missense_Mutation_p.R46W|EXOSC7_uc011bae.1_Missense_Mutation_p.R111W|EXOSC7_uc010his.1_Missense_Mutation_p.R30W|EXOSC7_uc003coj.2_Missense_Mutation_p.R111W	NM_015004	NP_055819	Q15024	EXOS7_HUMAN	exosome component 7	111					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		CACCCTCTATCGGATATTTAA	0.448													T	45038655	C	T	45038655	3	4	104	1	0	0	0	0	1	0	0	0	5319	875	31	1	345	1	EXOSC7	3	45038655	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	221872	45038655	152983775	1436	68050											
CCR9	10803	broad.mit.edu	37	chr3	45943167	45943167	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtttccaccaacattgAcatctgcttccaggtcaccc	6	16	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:45943167A>C	uc003coz.1	+	3	1044	c.887A>C	c.(886-888)GAC>GCC	p.D296A	LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.1_Missense_Mutation_p.D284A|CCR9_uc003cpa.1_Missense_Mutation_p.D284A	NM_031200	NP_112477	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9 isoform A	296	Extracellular (Potential).				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				ovary(2)|breast(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		ACCAACATTGACATCTGCTTC	0.498													C	45943167	A	C	45943167	3	2	104	1	0	0	0	0	1	0	0	0	2948	275	10	5	893	5	CCR9	3	45943167	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	904512	45943167	152079263	1437	68051											
CXCR6	10663	broad.mit.edu	37	chr3	45988319	45988319	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acactattaacttctacacgTccatgctcatcctcacctgc	3	16	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:45988319T>C	uc003cpc.1	+	2	427	c.346T>C	c.(346-348)TCC>CCC	p.S116P	FYCO1_uc003cpb.3_Intron|FYCO1_uc011bal.1_Intron|CXCR6_uc010hix.1_Missense_Mutation_p.S116P	NM_006564	NP_006555	O00574	CXCR6_HUMAN	G protein-coupled receptor TYMSTR	116	Helical; Name=3; (Potential).				viral genome replication	integral to plasma membrane	coreceptor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CTTCTACACGTCCATGCTCAT	0.522													C	45988319	T	C	45988319	3	2	104	1	0	0	0	0	1	0	0	0	4095	1667	58	3	348	3	CXCR6	3	45988319	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	45152	45988319	152034111	1438	68052											
PRSS50	29122	broad.mit.edu	37	chr3	46754462	46754462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgatctgaaccagagtggGgattttggtgaagttgtggt	16	3	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:46754462G>A	uc003cqe.1	-	5	909	c.850C>T	c.(850-852)CCC>TCC	p.P284S	PRSS50_uc003cqf.1_Missense_Mutation_p.P198S	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	testes-specific protease 50 precursor	284	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity				0						ACCAGAGTGGGGATTTTGGTG	0.517													A	46754462	G	A	46754462	3	1	104	1	0	0	0	0	1	0	0	0	12631	1232	43	4	315	4	PRSS50	3	46754462	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	766143	46754462	151267968	1439	68053											
SETD2	29072	broad.mit.edu	37	chr3	47125869	47125869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagtgttccaaagtctttaTaatctgattaaacataaaaa	4	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:47125869T>C	uc003cqs.2	-	12	5454	c.5401A>G	c.(5401-5403)ATA>GTA	p.I1801V	SETD2_uc003cqv.2_Missense_Mutation_p.I1868V|SETD2_uc003cqt.1_RNA	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1801					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAAGTCTTTATAATCTGATTA	0.249			N|F|S|Mis		clear cell renal carcinoma								C	47125869	T	C	47125869	3	2	104	1	0	0	0	0	1	0	0	0	14131	1406	49	3	2333	3	SETD2	3	47125869	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	371407	47125869	150896561	1440	68054											
SETD2	29072	broad.mit.edu	37	chr3	47164507	47164507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagaatatgatgaccctcgtCggaatcccagttcattaggg	10	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:47164507C>T	uc003cqs.2	-	3	1672	c.1619G>A	c.(1618-1620)CGA>CAA	p.R540Q	SETD2_uc003cqv.2_Missense_Mutation_p.R529Q	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGACCCTCGTCGGAATCCCAG	0.358			N|F|S|Mis		clear cell renal carcinoma								T	47164507	C	T	47164507	3	4	104	1	0	0	0	0	1	0	0	0	14131	884	31	1	6151	1	SETD2	3	47164507	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	38638	47164507	150857923	1441	68055											
KIF9	64147	broad.mit.edu	37	chr3	47278109	47278109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccttgttttcgtacttgCctgcaaggtgatggaagaag	12	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:47278109C>T	uc010hjp.2	-	19	2529	c.1925G>A	c.(1924-1926)GGC>GAC	p.G642D	KIF9_uc003cqx.2_Missense_Mutation_p.G642D|KIF9_uc003cqy.2_Missense_Mutation_p.G577D|KIF9_uc011bat.1_RNA|uc003cqw.1_Intron	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN	kinesin family member 9 isoform 2	642					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TTCGTACTTGCCTGCAAGGTG	0.507													T	47278109	C	T	47278109	3	4	104	1	0	0	0	0	1	0	0	0	8310	753	26	2	463	2	KIF9	3	47278109	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	113602	47278109	150744321	1442	68056											
SMARCC1	6599	broad.mit.edu	37	chr3	47651782	47651782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttccatgtggaagttttgGcgttcagtaagcaactgctg	12	7	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:47651782G>A	uc003crq.2	-	26	2935	c.2817C>T	c.(2815-2817)CGC>CGT	p.R939R	SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Silent_p.R830R	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	939	Potential.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GGAAGTTTTGGCGTTCAGTAA	0.478													A	47651782	G	A	47651782	2	1	104	1	0	0	0	0	0	0	0	1	14775	1190	42	2		2	SMARCC1	3	47651782	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	373673	47651782	150370648	1443	68057											
SMARCC1	6599	broad.mit.edu	37	chr3	47730897	47730897	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcctcctgctgtgactgTttcttcatcctgctcatctg	6	14	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:47730897T>C	uc003crq.2	-	13	1361	c.1243A>G	c.(1243-1245)ACA>GCA	p.T415A	SMARCC1_uc011bbd.1_Missense_Mutation_p.T306A	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	415					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GCTGTGACTGTTTCTTCATCC	0.398													C	47730897	T	C	47730897	3	2	104	1	0	0	0	0	1	0	0	0	14775	1725	60	3	2138	3	SMARCC1	3	47730897	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	79115	47730897	150291533	1444	68058											
SMARCC1	6599	broad.mit.edu	37	chr3	47734780	47734780	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtgtattttcactatctttCtttaggttcactagaaaaag	7	6	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:47734780C>A	uc003crq.2	-	12	1294	c.1176G>T	c.(1174-1176)AAG>AAT	p.K392N	SMARCC1_uc011bbd.1_Missense_Mutation_p.K283N	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	392					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CACTATCTTTCTTTAGGTTCA	0.333													A	47734780	C	A	47734780	3	1	104	1	0	0	0	0	1	0	0	0	14775	912	32	5	2209	5	SMARCC1	3	47734780	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3883	47734780	150287650	1445	68059											
DHX30	22907	broad.mit.edu	37	chr3	47891144	47891144	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccacacggttacggagccgAtggctgacgtatttcatggc	13	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:47891144A>G	uc003cru.2	+	21	3642	c.3216A>G	c.(3214-3216)CGA>CGG	p.R1072R	DHX30_uc003crt.2_Silent_p.R1033R	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	1072						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TACGGAGCCGATGGCTGACGT	0.632													G	47891144	A	G	47891144	2	3	104	1	0	0	0	0	0	0	0	1	4504	320	12	3		3	DHX30	3	47891144	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	156364	47891144	150131286	1446	68060											
CAMP	820	broad.mit.edu	37	chr3	48266793	48266793	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaaccccaggataacaagaGatttgccctgctgggtgatt	10	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:48266793G>T	uc003csj.1	+	4	532	c.392G>T	c.(391-393)AGA>ATA	p.R131I		NM_004345	NP_004336	P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	131					killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region				upper_aerodigestive_tract(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GATAACAAGAGATTTGCCCTG	0.468													T	48266793	G	T	48266793	3	4	104	1	0	0	0	0	1	0	0	0	2610	942	33	5	406	5	CAMP	3	48266793	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	375649	48266793	149755637	1447	68061											
FBXW12	285231	broad.mit.edu	37	chr3	48420978	48420978	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatttcaatatggtattgTacttctacactgctctcctg	6	10	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:48420978T>C	uc003csr.2	+	7	890	c.704T>C	c.(703-705)GTA>GCA	p.V235A	FBXW12_uc010hjv.2_Missense_Mutation_p.V216A|FBXW12_uc003css.2_Missense_Mutation_p.V165A|FBXW12_uc010hjw.2_Missense_Mutation_p.V134A	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12 isoform	235											0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TATGGTATTGTACTTCTACAC	0.423													C	48420978	T	C	48420978	3	2	104	1	0	0	0	0	1	0	0	0	5765	1638	57	3	763	3	FBXW12	3	48420978	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	154185	48420978	149601452	1448	68062											
PLXNB1	5364	broad.mit.edu	37	chr3	48465339	48465339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaggaacaggaagtaggCgctggccccacgtgcaaagg	15	12	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:48465339C>T	uc003csw.2	-	3	952	c.682G>A	c.(682-684)GCC>ACC	p.A228T	PLXNB1_uc003csu.2_Missense_Mutation_p.A228T|PLXNB1_uc003csx.2_Missense_Mutation_p.A228T|PLXNB1_uc010hjx.1_RNA	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	228	Extracellular (Potential).|Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGAAGTAGGCGCTGGCCCCA	0.597													T	48465339	C	T	48465339	3	4	104	1	0	0	0	0	1	0	0	0	12123	768	27	1	5869	1	PLXNB1	3	48465339	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	44361	48465339	149557091	1449	68063											
COL7A1	1294	broad.mit.edu	37	chr3	48626118	48626118	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgtgccctcgcggtccccGacaagtgcagtcactcgcac	12	16	1	0	rs139545952	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:48626118G>A	uc003ctz.2	-	19	2545	c.2544C>T	c.(2542-2544)GTC>GTT	p.V848V		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	848	Nonhelical region (NC1).|Fibronectin type-III 7.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGCGGTCCCCGACAAGTGCAG	0.592													A	48626118	G	A	48626118	2	1	104	1	0	0	0	0	0	0	0	1	3704	1045	37	1		1	COL7A1	3	48626118	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	160779	48626118	149396312	1450	68064											
CELSR3	1951	broad.mit.edu	37	chr3	48694593	48694593	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcgttctggatgttgaAgatgaagacgtcctcagcgg	14	7	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:48694593A>C	uc003cul.2	-	2	4218	c.3937T>G	c.(3937-3939)TTC>GTC	p.F1313V	CELSR3_uc003cuf.1_Missense_Mutation_p.F1383V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1313	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGATGTTGAAGATGAAGACG	0.657													C	48694593	A	C	48694593	3	2	104	1	0	0	0	0	1	0	0	0	3223	72	3	5	6137	5	CELSR3	3	48694593	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	68475	48694593	149327837	1451	68065											
ARIH2	10425	broad.mit.edu	37	chr3	49006041	49006041	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttccattgcttcccaatgaaGaattgagagagaaatacagg	9	7	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:49006041G>T	uc003cvb.2	+	7	925	c.613G>T	c.(613-615)GAA>TAA	p.E205*	ARIH2_uc003cvc.2_Nonsense_Mutation_p.E205*|ARIH2_uc003cvf.2_Nonsense_Mutation_p.E123*|ARIH2_uc010hkl.2_Nonsense_Mutation_p.E205*	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	205					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TCCCAATGAAGAATTGAGAGA	0.478													T	49006041	G	T	49006041	4	4	104	1	0	0	0	0	0	1	0	0	924	943	33	5	631	5	ARIH2	3	49006041	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	311448	49006041	149016389	1452	68066											
LAMB2	3913	broad.mit.edu	37	chr3	49162014	49162014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggagatgggcactgctgCggatttgtgcccagcaggtt	15	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:49162014C>T	uc003cwe.2	-	22	3440	c.3141G>A	c.(3139-3141)CCG>CCA	p.P1047P	LAMB2_uc003cwf.1_Silent_p.P1047P	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1047	Laminin EGF-like 11.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGCACTGCTGCGGATTTGTGC	0.597													T	49162014	C	T	49162014	2	4	104	1	0	0	0	0	0	0	0	1	8611	755	27	1		1	LAMB2	3	49162014	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	155973	49162014	148860416	1453	68067											
USP4	7375	broad.mit.edu	37	chr3	49321563	49321563	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcttcttacagttgggAcagtacctaaaaagagaaac	9	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:49321563A>G	uc003cwq.2	-	19	2476	c.2397T>C	c.(2395-2397)TGT>TGC	p.C799C	USP4_uc003cwo.2_Silent_p.C511C|USP4_uc003cwp.2_Silent_p.C529C|USP4_uc003cwr.2_Silent_p.C752C	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	799					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TACAGTTGGGACAGTACCTAA	0.522													G	49321563	A	G	49321563	2	3	104	1	0	0	0	0	0	0	0	1	17068	273	10	3		3	USP4	3	49321563	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	159549	49321563	148700867	1454	68068											
USP4	7375	broad.mit.edu	37	chr3	49321951	49321951	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtgaagagctcgatgcagtCtctcagggccactgtggtct	14	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:49321951C>A	uc003cwq.2	-	18	2417	c.2338G>T	c.(2338-2340)GAC>TAC	p.D780Y	USP4_uc003cwo.2_Missense_Mutation_p.D492Y|USP4_uc003cwp.2_Missense_Mutation_p.D510Y|USP4_uc003cwr.2_Missense_Mutation_p.D733Y	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	780					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TCGATGCAGTCTCTCAGGGCC	0.572													A	49321951	C	A	49321951	3	1	104	1	0	0	0	0	1	0	0	0	17068	913	32	5	573	5	USP4	3	49321951	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	388	49321951	148700479	1455	68069											
DAG1	1605	broad.mit.edu	37	chr3	49548223	49548223	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtgaccattccaacagatTtgattgcctccagtggagat	10	9	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:49548223T>G	uc003cxc.3	+	2	674	c.256T>G	c.(256-258)TTG>GTG	p.L86V		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	86	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCCAACAGATTTGATTGCCTC	0.473													G	49548223	T	G	49548223	3	3	104	1	0	0	0	0	1	0	0	0	4225	1838	64	5	258	5	DAG1	3	49548223	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	226272	49548223	148474207	1456	68070											
BSN	8927	broad.mit.edu	37	chr3	49690676	49690676	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgggctccttcgaataTcaagacactacagaccgtga	10	12	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:49690676T>G	uc003cxe.3	+	5	3801	c.3687T>G	c.(3685-3687)TAT>TAG	p.Y1229*		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1229					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTTCGAATATCAAGACACTA	0.667													G	49690676	T	G	49690676	4	3	104	1	0	0	0	0	0	1	0	0	1530	1442	50	5	3705	5	BSN	3	49690676	Nonsense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	142453	49690676	148331754	1457	68071											
BSN	8927	broad.mit.edu	37	chr3	49693126	49693126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctcagtcacggacctgcGtcatcctacagaccttttgg	10	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:49693126G>A	uc003cxe.3	+	5	6251	c.6137G>A	c.(6136-6138)CGT>CAT	p.R2046H		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2046					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACGGACCTGCGTCATCCTACA	0.587													A	49693126	G	A	49693126	3	1	104	1	0	0	0	0	1	0	0	0	1530	1145	40	1	6155	1	BSN	3	49693126	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2450	49693126	148329304	1458	68072											
AMIGO3	386724	broad.mit.edu	37	chr3	49755971	49755971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcggcgaaacccaggCaatgcgcatggccgggacgc	15	14	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:49755971C>T	uc003cxj.2	-	1	1268	c.928G>A	c.(928-930)GCC>ACC	p.A310T	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	310	Extracellular (Potential).|Ig-like C2-type.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GAAACCCAGGCAATGCGCATG	0.662													T	49755971	C	T	49755971	3	4	104	1	0	0	0	0	1	0	0	0	577	710	25	2	590	2	AMIGO3	3	49755971	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	62845	49755971	148266459	1459	68073											
TRAIP	10293	broad.mit.edu	37	chr3	49879261	49879261	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggggccacagtacgcacttCttgagagacacacagtacac	10	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:49879261C>A	uc003cxs.1	-	7	721	c.615G>T	c.(613-615)AAG>AAT	p.K205N	TRAIP_uc010hla.1_Intron	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	205	Potential.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTACGCACTTCTTGAGAGACA	0.527													A	49879261	C	A	49879261	3	1	104	1	0	0	0	0	1	0	0	0	16445	912	32	5	830	5	TRAIP	3	49879261	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	123290	49879261	148143169	1460	68074											
RBM6	10180	broad.mit.edu	37	chr3	50102503	50102503	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagggaaggcccctgcagaaGacgtctttaagaagcccctg	12	11	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:50102503G>A	uc003cyc.2	+	16	2759	c.2626G>A	c.(2626-2628)GAC>AAC	p.D876N	RBM6_uc010hlc.1_Missense_Mutation_p.D395N|RBM6_uc003cyd.2_Missense_Mutation_p.D354N|RBM6_uc003cye.2_Missense_Mutation_p.D354N|RBM6_uc011bdi.1_Missense_Mutation_p.D218N|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	876					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CCCTGCAGAAGACGTCTTTAA	0.498													A	50102503	G	A	50102503	3	1	104	1	0	0	0	0	1	0	0	0	13144	942	33	4	2684	4	RBM6	3	50102503	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	223242	50102503	147919927	1461	68075											
RBM6	10180	broad.mit.edu	37	chr3	50103758	50103758	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaggaagaagaggaggaacaGacccctcccccacagccccg	12	15	0	3	rs147895205	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:50103758G>T	uc003cyc.2	+	17	2899	c.2766G>T	c.(2764-2766)CAG>CAT	p.Q922H	RBM6_uc010hlc.1_3'UTR|RBM6_uc003cyd.2_Missense_Mutation_p.Q400H|RBM6_uc003cye.2_Missense_Mutation_p.Q400H|RBM6_uc011bdi.1_Missense_Mutation_p.Q264H|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	922					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGGAGGAACAGACCCCTCCCC	0.532													T	50103758	G	T	50103758	3	4	104	1	0	0	0	0	1	0	0	0	13144	933	33	5	2828	5	RBM6	3	50103758	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1255	50103758	147918672	1462	68076											
SLC38A3	10991	broad.mit.edu	37	chr3	50254684	50254684	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagggactggtacatgaAcgggaactacctggtaatcc	12	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:50254684A>G	uc003cyn.3	+	8	704	c.563A>G	c.(562-564)AAC>AGC	p.N188S	SLC38A3_uc011bdl.1_Missense_Mutation_p.N163S|SLC38A3_uc011bdm.1_Missense_Mutation_p.N119S	NM_006841	NP_006832	Q99624	S38A3_HUMAN	solute carrier family 38, member 3	188	Helical; (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	TGGTACATGAACGGGAACTAC	0.363													G	50254684	A	G	50254684	3	3	104	1	0	0	0	0	1	0	0	0	14605	43	2	3	589	3	SLC38A3	3	50254684	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	150926	50254684	147767746	1463	68077											
C3orf18	51161	broad.mit.edu	37	chr3	50597097	50597097	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcccaggccactcacgcatgGatggcattggccacatcggt	11	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:50597097G>T	uc003das.2	-	5	931	c.480C>A	c.(478-480)ATC>ATA	p.I160I	C3orf18_uc003dar.2_Silent_p.I160I|C3orf18_uc011bdr.1_RNA|C3orf18_uc010hlo.2_Silent_p.I140I|C3orf18_uc010hlp.2_5'UTR|C3orf18_uc003dat.2_Silent_p.I160I	NM_016210	NP_057294	Q9UK00	CC018_HUMAN	hypothetical protein LOC51161	160						integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		CTCACGCATGGATGGCATTGG	0.592													T	50597097	G	T	50597097	2	4	104	1	0	0	0	0	0	0	0	1	2211	1164	41	5		5	C3orf18	3	50597097	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	342413	50597097	147425333	1464	68078											
HEMK1	51409	broad.mit.edu	37	chr3	50608616	50608616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccggggctgggccttcagCtcatggcaaccccaaccacc	10	18	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:50608616C>T	uc003dau.2	+	2	377	c.81C>T	c.(79-81)AGC>AGT	p.S27S	C3orf18_uc003dat.2_5'Flank|HEMK1_uc003dav.2_Silent_p.S27S|HEMK1_uc003daw.2_Silent_p.S27S	NM_016173	NP_057257	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	27					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		GGGCCTTCAGCTCATGGCAAC	0.617													T	50608616	C	T	50608616	2	4	104	1	0	0	0	0	0	0	0	1	7051	796	28	2		2	HEMK1	3	50608616	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	11519	50608616	147413814	1465	68079											
MAPKAPK3	7867	broad.mit.edu	37	chr3	50655008	50655008	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgggggccatggatggtgaAacagcagaggagcagggggg	22	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:50655008A>C	uc003day.1	+	4	608	c.12A>C	c.(10-12)GAA>GAC	p.E4D	MAPKAPK3_uc003daz.1_Missense_Mutation_p.E4D|MAPKAPK3_uc003dba.1_Missense_Mutation_p.E4D|MAPKAPK3_uc010hlr.1_Missense_Mutation_p.E4D	NM_004635	NP_004626	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated	4					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		TGGATGGTGAAACAGCAGAGG	0.721													C	50655008	A	C	50655008	3	2	104	1	0	0	0	0	1	0	0	0	9290	11	1	5	14	5	MAPKAPK3	3	50655008	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	46392	50655008	147367422	1466	68080											
MAPKAPK3	7867	broad.mit.edu	37	chr3	50683628	50683628	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caggccatctccccggggatGaagaggaggattcgcctggg	16	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:50683628G>T	uc003day.1	+	10	1358	c.762G>T	c.(760-762)ATG>ATT	p.M254I	MAPKAPK3_uc003daz.1_Missense_Mutation_p.M254I|MAPKAPK3_uc003dba.1_Missense_Mutation_p.M254I|MAPKAPK3_uc010hlr.1_Missense_Mutation_p.M254I	NM_004635	NP_004626	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated	254	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		CCCCGGGGATGAAGAGGAGGA	0.592													T	50683628	G	T	50683628	3	4	104	1	0	0	0	0	1	0	0	0	9290	1290	45	5	788	5	MAPKAPK3	3	50683628	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	28620	50683628	147338802	1467	68081											
DOCK3	1795	broad.mit.edu	37	chr3	51417640	51417640	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcccggaccctgcgcaaggTaatgtactgaagcggcagcc	13	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:51417640T>C	uc011bds.1	+	52	5606	c.5583_splice	c.e52+2	p.K1861_splice		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3							cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTGCGCAAGGTAATGTACTGA	0.597													C	51417640	T	C	51417640	5	2	104	1	0	0	0	0	0	0	1	0	4688	1652	57	3	5791	3	DOCK3	3	51417640	Splice_Site	SNP	T	TCGA-BR-8680-01A-11D-2394-08	734012	51417640	146604790	1468	68082											
RBM15B	29890	broad.mit.edu	37	chr3	51430882	51430882	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagaaggcaagagacagCgagcgcaatcaccggaccac	14	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:51430882C>T	uc003dbd.2	+	1	2152	c.2052C>T	c.(2050-2052)AGC>AGT	p.S684S		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	684					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAAGAGACAGCGAGCGCAATC	0.582													T	51430882	C	T	51430882	2	4	104	1	0	0	0	0	0	0	0	1	13117	767	27	1		1	RBM15B	3	51430882	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	13242	51430882	146591548	1469	68083											
VPRBP	9730	broad.mit.edu	37	chr3	51497201	51497201	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtctgcaagctgcagtgtTtaaagggggctctcggcttg	15	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:51497201T>G	uc003dbe.1	-	6	472	c.304A>C	c.(304-306)AAC>CAC	p.N102H	VPRBP_uc003dbg.1_Missense_Mutation_p.N102H	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	102					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GCTGCAGTGTTTAAAGGGGGC	0.388													G	51497201	T	G	51497201	3	3	104	1	0	0	0	0	1	0	0	0	17182	1841	64	5	4136	5	VPRBP	3	51497201	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	66319	51497201	146525229	1470	68084											
GRM2	2912	broad.mit.edu	37	chr3	51743099	51743099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggagggagacttggtgCtgggtgggctgttcccagtg	18	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:51743099C>T	uc010hlv.2	+	2	339	c.100C>T	c.(100-102)CTG>TTG	p.L34L	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	34	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	AGACTTGGTGCTGGGTGGGCT	0.642													T	51743099	C	T	51743099	2	4	104	1	0	0	0	0	0	0	0	1	6797	796	28	2		2	GRM2	3	51743099	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	245898	51743099	146279331	1471	68085											
GRM2	2912	broad.mit.edu	37	chr3	51743227	51743227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgcatcaaccgtgacccGcacctgctgcctggcgtgcg	12	17	1	1	rs140328919		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:51743227G>A	uc010hlv.2	+	2	467	c.228G>A	c.(226-228)CCG>CCA	p.P76P	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	76	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	ACCGTGACCCGCACCTGCTGC	0.632													A	51743227	G	A	51743227	2	1	104	1	0	0	0	0	0	0	0	1	6797	1074	38	1		1	GRM2	3	51743227	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	128	51743227	146279203	1472	68086											
IQCF2	389123	broad.mit.edu	37	chr3	51897136	51897136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggtggcggatgacgctgtCgagggtgctggagaagaaac	18	7	0	3	rs147180778		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:51897136C>T	uc003dbt.1	+	3	283	c.245C>T	c.(244-246)TCG>TTG	p.S82L	IQCF1_uc003dbq.3_Intron|IQCF2_uc003dbu.1_RNA	NM_203424	NP_982248	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	82											0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATGACGCTGTCGAGGGTGCTG	0.612													T	51897136	C	T	51897136	3	4	104	1	0	0	0	0	1	0	0	0	7808	893	31	1	255	1	IQCF2	3	51897136	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	153909	51897136	146125294	1473	68087											
RPL29	6159	broad.mit.edu	37	chr3	52027960	52027960	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtgggcaatgtaggcaagTcgatcgagcttgcggctgac	17	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:52027960T>G	uc003dcs.2	-	4	379	c.285A>C	c.(283-285)CGA>CGC	p.R95R		NM_000992	NP_000983	P47914	RL29_HUMAN	ribosomal protein L29	95					embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|protein binding|RNA binding|structural constituent of ribosome				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGTAGGCAAGTCGATCGAGCT	0.522													G	52027960	T	G	52027960	2	3	104	1	0	0	0	0	0	0	0	1	13578	1654	58	5		5	RPL29	3	52027960	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	130824	52027960	145994470	1474	68088											
DNAH1	25981	broad.mit.edu	37	chr3	52381902	52381902	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctctggggtgcactataGcaccccactggagcagtttg	12	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:52381902G>T	uc011bef.1	+	12	2279	c.2018G>T	c.(2017-2019)AGC>ATC	p.S673I	DNAH1_uc003ddt.1_Missense_Mutation_p.S673I	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	673	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTGCACTATAGCACCCCACTG	0.607													T	52381902	G	T	52381902	3	4	104	1	0	0	0	0	1	0	0	0	4597	971	34	5	2060	5	DNAH1	3	52381902	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	353942	52381902	145640528	1475	68089											
DNAH1	25981	broad.mit.edu	37	chr3	52423500	52423500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtaccgcacggtgctctaCgacagctgggtcaagcagct	12	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:52423500C>T	uc011bef.1	+	60	9780	c.9519C>T	c.(9517-9519)TAC>TAT	p.Y3173Y	DNAH1_uc003ddv.2_Silent_p.Y31Y	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3238					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGGTGCTCTACGACAGCTGGG	0.592													T	52423500	C	T	52423500	2	4	104	1	0	0	0	0	0	0	0	1	4597	547	19	1		1	DNAH1	3	52423500	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	41598	52423500	145598930	1476	68090											
DNAH1	25981	broad.mit.edu	37	chr3	52433758	52433758	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggcccaggaccaggacttTtacctgtgccccatctacaa	8	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:52433758T>G	uc011bef.1	+	77	12900	c.12639T>G	c.(12637-12639)TTT>TTG	p.F4213L	DNAH1_uc003ddv.2_Missense_Mutation_p.F1046C	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4278					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCAGGACTTTTACCTGTGCC	0.597													G	52433758	T	G	52433758	3	3	104	1	0	0	0	0	1	0	0	0	4597	1838	64	5	12941	5	DNAH1	3	52433758	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	10258	52433758	145588672	1477	68091											
BAP1	8314	broad.mit.edu	37	chr3	52441282	52441282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggaacgcctccatggtcCgcactgcactaaggccattc	10	14	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:52441282C>T	uc003ddx.2	-	7	603	c.488G>A	c.(487-489)CGG>CAG	p.R163Q	BAP1_uc010hmh.2_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	163					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTCCATGGTCCGCACTGCACT	0.572			N|Mis|F|S|O		uveal melanoma|breast|NSCLC								T	52441282	C	T	52441282	3	4	104	1	0	0	0	0	1	0	0	0	1311	652	23	1	1745	1	BAP1	3	52441282	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7524	52441282	145581148	1478	68092											
SEMA3G	56920	broad.mit.edu	37	chr3	52475391	52475391	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcattgtcctggtcagagttCtcagggatccgggcggccat	13	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:52475391C>A	uc003dea.1	-	7	702	c.702G>T	c.(700-702)GAG>GAT	p.E234D		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	semaphorin sem2 precursor	234	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GGTCAGAGTTCTCAGGGATCC	0.627													A	52475391	C	A	52475391	3	1	104	1	0	0	0	0	1	0	0	0	14030	912	32	5	1686	5	SEMA3G	3	52475391	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	34109	52475391	145547039	1479	68093											
NISCH	11188	broad.mit.edu	37	chr3	52505858	52505858	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcctgggggccggcgaggtCtttgccattggacccctgca	14	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:52505858C>A	uc011beg.1	+	6	510	c.438C>A	c.(436-438)GTC>GTA	p.V146V	NISCH_uc003ded.3_Silent_p.V146V|NISCH_uc003dec.1_Silent_p.V146V	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	146	Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCGGCGAGGTCTTTGCCATTG	0.647											OREG0015615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	52505858	C	A	52505858	2	1	104	1	0	0	0	0	0	0	0	1	10432	900	32	5		5	NISCH	3	52505858	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	30467	52505858	145516572	1480	68094											
STAB1	23166	broad.mit.edu	37	chr3	52543302	52543302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcgcctgccacatctgctCgaacccaaacaagcatggag	8	15	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:52543302C>T	uc003dej.2	+	22	2386	c.2312C>T	c.(2311-2313)TCG>TTG	p.S771L		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	771	Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CACATCTGCTCGAACCCAAAC	0.577													T	52543302	C	T	52543302	3	4	104	1	0	0	0	0	1	0	0	0	15236	893	31	1	2398	1	STAB1	3	52543302	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	37444	52543302	145479128	1481	68095											
NT5DC2	64943	broad.mit.edu	37	chr3	52558592	52558592	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcggcgtacggcgtgggTagaaggtgaagtccacgcgg	19	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:52558592T>C	uc003deo.2	-	14	1881	c.1457A>G	c.(1456-1458)TAC>TGC	p.Y486C	NT5DC2_uc003dem.2_Missense_Mutation_p.Y356C|NT5DC2_uc003den.2_Missense_Mutation_p.Y523C|NT5DC2_uc010hmi.2_Missense_Mutation_p.Y498C|NT5DC2_uc010hmj.2_Missense_Mutation_p.Y302C	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2 isoform 2	486							hydrolase activity|metal ion binding				0				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		ACGGCGTGGGTAGAAGGTGAA	0.622													C	52558592	T	C	52558592	3	2	104	1	0	0	0	0	1	0	0	0	10691	1638	57	3	109	3	NT5DC2	3	52558592	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	15290	52558592	145463838	1482	68096											
ITIH1	3697	broad.mit.edu	37	chr3	52824806	52824806	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagaggaacctggtggtgtCtgtggacgacggtggcacct	17	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:52824806C>T	uc003dfs.2	+	20	2387	c.2363C>T	c.(2362-2364)TCT>TTT	p.S788F	ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.S389F|ITIH1_uc010hmo.1_Missense_Mutation_p.S342F|ITIH1_uc003dfu.2_Missense_Mutation_p.S154F	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	788	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CTGGTGGTGTCTGTGGACGAC	0.592													T	52824806	C	T	52824806	3	4	104	1	0	0	0	0	1	0	0	0	7903	913	32	4	2441	4	ITIH1	3	52824806	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	266214	52824806	145197624	1483	68097											
ITIH3	3699	broad.mit.edu	37	chr3	52831835	52831835	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttactttggccatttcagatCgaggtagacatcttcgagcc	9	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:52831835C>T	uc003dfv.2	+	6	588	c.552C>T	c.(550-552)ATC>ATT	p.I184I	ITIH3_uc011bek.1_Silent_p.I184I	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	184					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CATTTCAGATCGAGGTAGACA	0.532													T	52831835	C	T	52831835	2	4	104	1	0	0	0	0	0	0	0	1	7905	874	31	1		1	ITIH3	3	52831835	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7029	52831835	145190595	1484	68098											
ITIH3	3699	broad.mit.edu	37	chr3	52836763	52836763	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggagcgggactacatcttCgggaattacattgagcggct	13	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:52836763C>T	uc003dfv.2	+	13	1686	c.1650C>T	c.(1648-1650)TTC>TTT	p.F550F	ITIH3_uc011bek.1_Intron	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	550					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACTACATCTTCGGGAATTACA	0.602													T	52836763	C	T	52836763	2	4	104	1	0	0	0	0	0	0	0	1	7905	883	31	1		1	ITIH3	3	52836763	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4928	52836763	145185667	1485	68099											
ITIH4	3700	broad.mit.edu	37	chr3	52859950	52859950	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccacatcatagcggataatGaggttgccgtccaggactgt	11	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:52859950G>T	uc003dfz.2	-	6	747	c.711C>A	c.(709-711)CTC>CTA	p.L237L	ITIH4_uc011bel.1_5'UTR|ITIH4_uc003dfy.2_Silent_p.L101L|ITIH4_uc011bem.1_Silent_p.L237L|ITIH4_uc011ben.1_Silent_p.L237L	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	237					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AGCGGATAATGAGGTTGCCGT	0.572													T	52859950	G	T	52859950	2	4	104	1	0	0	0	0	0	0	0	1	7906	1277	45	5		5	ITIH4	3	52859950	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	23187	52859950	145162480	1486	68100											
ITIH4	3700	broad.mit.edu	37	chr3	52860836	52860836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgaccagctgctggggccGcactttcagcagcagctcgt	12	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:52860836G>A	uc003dfz.2	-	4	526	c.490C>T	c.(490-492)CGG>TGG	p.R164W	ITIH4_uc011bel.1_5'Flank|ITIH4_uc003dfy.2_Missense_Mutation_p.R40W|ITIH4_uc011bem.1_Missense_Mutation_p.R164W|ITIH4_uc011ben.1_Missense_Mutation_p.R164W	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	164					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGCTGGGGCCGCACTTTCAGC	0.617													A	52860836	G	A	52860836	3	1	104	1	0	0	0	0	1	0	0	0	7906	1086	38	1	2386	1	ITIH4	3	52860836	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	886	52860836	145161594	1487	68101											
SFMBT1	51460	broad.mit.edu	37	chr3	52941623	52941623	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcagaggagcgtttcttcTtatgaacaaaaacatttttc	7	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:52941623T>C	uc003dgf.2	-	19	2602	c.2033A>G	c.(2032-2034)AAG>AGG	p.K678R	SFMBT1_uc010hmr.2_Missense_Mutation_p.K625R|SFMBT1_uc003dgg.2_Missense_Mutation_p.K678R|SFMBT1_uc003dgh.2_Missense_Mutation_p.K678R	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	678					regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GCGTTTCTTCTTATGAACAAA	0.468													C	52941623	T	C	52941623	3	2	104	1	0	0	0	0	1	0	0	0	14157	1609	56	3	583	3	SFMBT1	3	52941623	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	80787	52941623	145080807	1488	68102											
PRKCD	5580	broad.mit.edu	37	chr3	53212512	53212512	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccgaggacgaggcgaaccAgcccttctgtgccgtgaaga	15	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:53212512A>C	uc003dgl.2	+	3	427	c.74A>C	c.(73-75)CAG>CCG	p.Q25P	PRKCD_uc003dgm.2_Missense_Mutation_p.Q25P|PRKCD_uc003dgn.2_Missense_Mutation_p.Q25P	NM_006254	NP_006245	Q05655	KPCD_HUMAN	protein kinase C, delta	25	C2.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GAGGCGAACCAGCCCTTCTGT	0.662													C	53212512	A	C	53212512	3	2	104	1	0	0	0	0	1	0	0	0	12509	188	7	5	76	5	PRKCD	3	53212512	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	270889	53212512	144809918	1489	68103											
CACNA1D	776	broad.mit.edu	37	chr3	53752369	53752369	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtctgtgaacacagagAacgtcagcggtgaaggcgag	15	8	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:53752369A>C	uc003dgv.3	+	10	1595	c.1432A>C	c.(1432-1434)AAC>CAC	p.N478H	CACNA1D_uc003dgu.3_Missense_Mutation_p.N478H|CACNA1D_uc003dgy.3_Missense_Mutation_p.N478H|CACNA1D_uc003dgw.3_Missense_Mutation_p.N125H	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	478	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GAACACAGAGAACGTCAGCGG	0.602													C	53752369	A	C	53752369	3	2	104	1	0	0	0	0	1	0	0	0	2541	246	9	5	1578	5	CACNA1D	3	53752369	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	539857	53752369	144270061	1490	68104											
CACNA1D	776	broad.mit.edu	37	chr3	53845206	53845206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtgtcagcaacaaaacacGaaatcgctgatgcctgtgac	9	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:53845206G>A	uc003dgv.3	+	48	6422	c.6259G>A	c.(6259-6261)GAA>AAA	p.E2087K	CACNA1D_uc003dgu.3_Missense_Mutation_p.E2107K|CACNA1D_uc003dgy.3_Missense_Mutation_p.E2063K|CACNA1D_uc003dgw.3_Missense_Mutation_p.E1754K|CACNA1D_uc011bes.1_RNA	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	2087	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AACAAAACACGAAATCGCTGA	0.552													A	53845206	G	A	53845206	3	1	104	1	0	0	0	0	1	0	0	0	2541	1059	37	1	6621	1	CACNA1D	3	53845206	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	92837	53845206	144177224	1491	68105											
ACTR8	93973	broad.mit.edu	37	chr3	53914039	53914039	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtgtcttcgggcaatgAcgtgaggaatgctggcagga	16	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:53914039A>C	uc003dhd.2	-	2	280	c.221T>G	c.(220-222)GTC>GGC	p.V74G	ACTR8_uc003dhb.2_5'Flank|ACTR8_uc003dhc.2_5'UTR	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	74					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TCGGGCAATGACGTGAGGAAT	0.473													C	53914039	A	C	53914039	3	2	104	1	0	0	0	0	1	0	0	0	217	275	10	5	1701	5	ACTR8	3	53914039	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	68833	53914039	144108391	1492	68106											
CACNA2D3	55799	broad.mit.edu	37	chr3	54157603	54157603	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgctgctaagtactccggTtcccagcttctgcaaaaggt	9	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:54157603T>C	uc003dhf.2	+	2	234	c.186T>C	c.(184-186)GGT>GGC	p.G62G	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_5'UTR|CACNA2D3_uc003dhh.1_RNA	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	62	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGTACTCCGGTTCCCAGCTTC	0.488													C	54157603	T	C	54157603	2	2	104	1	0	0	0	0	0	0	0	1	2550	1712	60	3		3	CACNA2D3	3	54157603	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	243564	54157603	143864827	1493	68107											
LRTM1	57408	broad.mit.edu	37	chr3	54952817	54952817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaggacactggatcaggaGcaggaagagggcagggctgg	20	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:54952817G>A	uc003dhl.2	-	3	841	c.707C>T	c.(706-708)GCT>GTT	p.A236V	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	236	Extracellular (Potential).					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TGGATCAGGAGCAGGAAGAGG	0.602													A	54952817	G	A	54952817	3	1	104	1	0	0	0	0	1	0	0	0	9044	971	34	2	334	2	LRTM1	3	54952817	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	795214	54952817	143069613	1494	68108											
CACNA2D3	55799	broad.mit.edu	37	chr3	55018657	55018657	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaattgttacctcatagAcaataatggatttattttgg	8	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:55018657A>G	uc003dhf.2	+	30	2627	c.2579A>G	c.(2578-2580)GAC>GGC	p.D860G	CACNA2D3_uc003dhg.1_Missense_Mutation_p.D766G|CACNA2D3_uc003dhh.1_RNA	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	860	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TACCTCATAGACAATAATGGA	0.368													G	55018657	A	G	55018657	3	3	104	1	0	0	0	0	1	0	0	0	2550	275	10	3	2697	3	CACNA2D3	3	55018657	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	65840	55018657	143003773	1495	68109											
ERC2	26059	broad.mit.edu	37	chr3	56114904	56114904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taacatatctttcatgtcacGaatttcaccggccagtgtcc	6	12	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:56114904G>A	uc003dhr.1	-	7	1838	c.1582C>T	c.(1582-1584)CGT>TGT	p.R528C	ERC2_uc003dht.1_5'UTR	NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	528	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTCATGTCACGAATTTCACCG	0.398													A	56114904	G	A	56114904	3	1	104	1	0	0	0	0	1	0	0	0	5211	1058	37	1	1325	1	ERC2	3	56114904	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1096247	56114904	141907526	1496	68110											
C3orf63	23272	broad.mit.edu	37	chr3	56657215	56657215	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgaaagggcatatggtgtCcccaaaaatgtctgatgagt	12	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:56657215C>T	uc003did.3	-	23	4781	c.4680G>A	c.(4678-4680)GGG>GGA	p.G1560G	C3orf63_uc003dib.3_Silent_p.G679G|C3orf63_uc003dic.3_Silent_p.G1184G|C3orf63_uc003die.3_3'UTR	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	1621										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		CATATGGTGTCCCCAAAAATG	0.343													T	56657215	C	T	56657215	2	4	104	1	0	0	0	0	0	0	0	1	2239	842	30	4		4	C3orf63	3	56657215	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	542311	56657215	141365215	1497	68111											
C3orf63	23272	broad.mit.edu	37	chr3	56661678	56661678	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacctccagatacaaataatTcattgtatgtatgattttta	4	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:56661678T>G	uc003did.3	-	19	3880	c.3779A>C	c.(3778-3780)GAA>GCA	p.E1260A	C3orf63_uc003dib.3_Missense_Mutation_p.E379A|C3orf63_uc003dic.3_Missense_Mutation_p.E884A|C3orf63_uc003die.3_Missense_Mutation_p.E1321A	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	1321										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		TACAAATAATTCATTGTATGT	0.373													G	56661678	T	G	56661678	3	3	104	1	0	0	0	0	1	0	0	0	2239	1783	62	5	1130	5	C3orf63	3	56661678	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	4463	56661678	141360752	1498	68112											
C3orf63	23272	broad.mit.edu	37	chr3	56674012	56674012	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtccaagtatacttttcttAcctgtaattggaatcagttt	6	7	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:56674012A>G	uc003did.3	-	16	2865	c.2764_splice	c.e16+1	p.D922_splice	C3orf63_uc003dic.3_Splice_Site_p.G526_splice|C3orf63_uc003die.3_Splice_Site_p.G922_splice	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b											ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		TACTTTTCTTACCTGTAATTG	0.378													G	56674012	A	G	56674012	5	3	104	1	0	0	0	0	0	0	1	0	2239	405	14	3	2342	3	C3orf63	3	56674012	Splice_Site	SNP	A	TCGA-BR-8680-01A-11D-2394-08	12334	56674012	141348418	1499	68113											
ARHGEF3	50650	broad.mit.edu	37	chr3	56763357	56763357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtctgtctgttccatgcGctcacagtcgaggctgacct	11	12	3	2	rs115250058	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:56763357G>A	uc003dig.2	-	10	1691	c.1522C>T	c.(1522-1524)CGC>TGC	p.R508C	ARHGEF3_uc011bew.1_Missense_Mutation_p.R508C|ARHGEF3_uc003dih.2_Missense_Mutation_p.R540C|ARHGEF3_uc011bev.1_Missense_Mutation_p.R479C|ARHGEF3_uc003dif.2_Missense_Mutation_p.R514C|ARHGEF3_uc010hmy.1_Missense_Mutation_p.R306C	NM_019555	NP_062455	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor 3 isoform	508					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TGTTCCATGCGCTCACAGTCG	0.522													A	56763357	G	A	56763357	3	1	104	1	0	0	0	0	1	0	0	0	904	1087	38	1	62	1	ARHGEF3	3	56763357	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	89345	56763357	141259073	1500	68114											
HESX1	8820	broad.mit.edu	37	chr3	57232259	57232259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgttgaaattttttttcGccattagaaactgtgattct	7	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:57232259G>A	uc003din.3	-	4	858	c.524C>T	c.(523-525)GCG>GTG	p.A175V		NM_003865	NP_003856	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	175						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		ATTTTTTTTCGCCATTAGAAA	0.318													A	57232259	G	A	57232259	3	1	104	1	0	0	0	0	1	0	0	0	7072	1087	38	1	37	1	HESX1	3	57232259	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	468902	57232259	140790171	1501	68115											
APPL1	26060	broad.mit.edu	37	chr3	57269638	57269638	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagatgccacagctatTtccaactatatgaaccagtt	7	9	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:57269638T>G	uc003dio.2	+	2	246	c.99T>G	c.(97-99)ATT>ATG	p.I33M	APPL1_uc010hnb.2_Missense_Mutation_p.I33M|APPL1_uc011bey.1_Missense_Mutation_p.I16M	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH	33	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		CCACAGCTATTTCCAACTATA	0.323													G	57269638	T	G	57269638	3	3	104	1	0	0	0	0	1	0	0	0	817	1829	64	5	105	5	APPL1	3	57269638	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	37379	57269638	140752792	1502	68116											
APPL1	26060	broad.mit.edu	37	chr3	57283540	57283540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtggactgtgaagacagacGatattgttttcagatcacct	10	7	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:57283540G>A	uc003dio.2	+	11	1163	c.1016G>A	c.(1015-1017)CGA>CAA	p.R339Q	APPL1_uc010hnb.2_Missense_Mutation_p.R339Q|APPL1_uc011bey.1_Missense_Mutation_p.R322Q	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH	339	Required for RAB5A binding.|PH.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GAAGACAGACGATATTGTTTT	0.393													A	57283540	G	A	57283540	3	1	104	1	0	0	0	0	1	0	0	0	817	1058	37	1	1058	1	APPL1	3	57283540	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13902	57283540	140738890	1503	68117											
FAM116A	201627	broad.mit.edu	37	chr3	57616162	57616162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaacctcttcacaaagagCttctagatggagtgcctcca	8	12	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:57616162C>T	uc003dja.2	-	18	1677	c.1606G>A	c.(1606-1608)GCT>ACT	p.A536T		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	hypothetical protein LOC201627	536										pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		TCACAAAGAGCTTCTAGATGG	0.358													T	57616162	C	T	57616162	3	4	104	1	0	0	0	0	1	0	0	0	5407	797	28	2	232	2	FAM116A	3	57616162	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	332622	57616162	140406268	1504	68118											
FAM116A	201627	broad.mit.edu	37	chr3	57649398	57649398	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctttttagagttttatctcGaacttgtcggaaatacacat	6	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:57649398G>A	uc003dja.2	-	5	549	c.478C>T	c.(478-480)CGA>TGA	p.R160*		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	hypothetical protein LOC201627	160										pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		GTTTTATCTCGAACTTGTCGG	0.294													A	57649398	G	A	57649398	4	1	104	1	0	0	0	0	0	1	0	0	5407	1066	37	1	1412	1	FAM116A	3	57649398	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	33236	57649398	140373032	1505	68119											
FAM116A	201627	broad.mit.edu	37	chr3	57651870	57651870	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctttaagtaaactggtaaatCtttgtcaaattgatccagga	7	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:57651870C>A	uc003dja.2	-	4	483	c.412G>T	c.(412-414)GAT>TAT	p.D138Y		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	hypothetical protein LOC201627	138										pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		ACTGGTAAATCTTTGTCAAAT	0.393													A	57651870	C	A	57651870	3	1	104	1	0	0	0	0	1	0	0	0	5407	913	32	5	1482	5	FAM116A	3	57651870	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2472	57651870	140370560	1506	68120											
SLMAP	7871	broad.mit.edu	37	chr3	57875781	57875781	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttggcagagaagctgatcgtCgaagggcatctaaccaaagc	12	9	1	2	rs139832644		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:57875781C>T	uc003dje.1	+	13	1468	c.1263C>T	c.(1261-1263)GTC>GTT	p.V421V	SLMAP_uc003djc.1_Silent_p.V417V|SLMAP_uc003djd.1_Silent_p.V404V|SLMAP_uc003djf.1_Silent_p.V383V|SLMAP_uc003djg.1_Intron|SLMAP_uc011bez.1_5'UTR|SLMAP_uc011bfa.1_5'UTR|SLMAP_uc003djh.2_5'UTR|SLMAP_uc003dji.1_5'UTR	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	421	Cytoplasmic (Potential).				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AGCTGATCGTCGAAGGGCATC	0.408													T	57875781	C	T	57875781	2	4	104	1	0	0	0	0	0	0	0	1	14749	871	31	1		1	SLMAP	3	57875781	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	223911	57875781	140146649	1507	68121											
FLNB	2317	broad.mit.edu	37	chr3	58131773	58131773	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcgtcacagaggatgcaggaGaaggtactgtgtggtttacg	15	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:58131773G>T	uc003djj.2	+	33	5716	c.5551G>T	c.(5551-5553)GAA>TAA	p.E1851*	FLNB_uc010hne.2_Nonsense_Mutation_p.E1882*|FLNB_uc003djk.2_Nonsense_Mutation_p.E1840*|FLNB_uc010hnf.2_Nonsense_Mutation_p.E1827*|FLNB_uc003djl.2_Nonsense_Mutation_p.E1671*|FLNB_uc003djm.2_Nonsense_Mutation_p.E1658*	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	1851	Filamin 17.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGATGCAGGAGAAGGTACTGT	0.512													T	58131773	G	T	58131773	4	4	104	1	0	0	0	0	0	1	0	0	5934	943	33	5	5778	5	FLNB	3	58131773	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	255992	58131773	139890657	1508	68122											
FLNB	2317	broad.mit.edu	37	chr3	58134405	58134405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatcccccgggaagtgggcGaacatctggtcagcatcaag	12	12	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:58134405G>A	uc003djj.2	+	36	6082	c.5917G>A	c.(5917-5919)GAA>AAA	p.E1973K	FLNB_uc010hne.2_Missense_Mutation_p.E2004K|FLNB_uc003djk.2_Missense_Mutation_p.E1962K|FLNB_uc010hnf.2_Missense_Mutation_p.E1949K|FLNB_uc003djl.2_Missense_Mutation_p.E1793K|FLNB_uc003djm.2_Missense_Mutation_p.E1780K|FLNB_uc010hng.1_5'Flank	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	1973	Filamin 18.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGAAGTGGGCGAACATCTGGT	0.572													A	58134405	G	A	58134405	3	1	104	1	0	0	0	0	1	0	0	0	5934	1059	37	1	6156	1	FLNB	3	58134405	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2632	58134405	139888025	1509	68123											
RPP14	11102	broad.mit.edu	37	chr3	58296086	58296086	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgccacatatgaaagAgtagtttacaaaaacccttc	6	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:58296086A>C	uc010hnh.2	+	2	458	c.30A>C	c.(28-30)AGA>AGC	p.R10S	RPP14_uc010hni.2_Intron|RPP14_uc003dju.3_Missense_Mutation_p.R10S|RPP14_uc003djv.3_Intron|RPP14_uc003djw.3_Intron	NM_001098783	NP_001092253	O95059	RPP14_HUMAN	ribonuclease P 14kDa subunit	10					tRNA processing	nucleus	identical protein binding|ribonuclease P activity|RNA binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000187)|KIRC - Kidney renal clear cell carcinoma(10;0.0102)|Kidney(10;0.0118)|OV - Ovarian serous cystadenocarcinoma(275;0.191)		CATATGAAAGAGTAGTTTACA	0.398													C	58296086	A	C	58296086	3	2	104	1	0	0	0	0	1	0	0	0	13609	301	11	5	32	5	RPP14	3	58296086	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	161681	58296086	139726344	1510	68124											
PDHB	5162	broad.mit.edu	37	chr3	58417336	58417336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataccatagctgcacctacaGcaattccagcaaagcccatc	5	15	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:58417336G>A	uc003dkf.3	-	5	316	c.287C>T	c.(286-288)GCT>GTT	p.A96V	PDHB_uc003dke.3_Missense_Mutation_p.A54V|PDHB_uc003dkg.3_Missense_Mutation_p.A78V|PDHB_uc010hnl.2_Missense_Mutation_p.A78V|PDHB_uc011bff.1_Missense_Mutation_p.A96V	NM_000925	NP_000916	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	96					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	NADH(DB00157)|Pyruvic acid(DB00119)	TGCACCTACAGCAATTCCAGC	0.274													A	58417336	G	A	58417336	3	1	104	1	0	0	0	0	1	0	0	0	11666	971	34	2	816	2	PDHB	3	58417336	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	121250	58417336	139605094	1511	68125											
C3orf67	200844	broad.mit.edu	37	chr3	58870367	58870367	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgacatgtggaacatctgTcattagttgacagcttcgtg	11	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:58870367T>C	uc003dkt.1	-	7	653	c.244A>G	c.(244-246)ACA>GCA	p.T82A	uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.2_5'UTR	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	hypothetical protein LOC200844	82											0		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GGAACATCTGTCATTAGTTGA	0.393													C	58870367	T	C	58870367	3	2	104	1	0	0	0	0	1	0	0	0	2241	1667	58	3	1487	3	C3orf67	3	58870367	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	453031	58870367	139152063	1512	68126											
PTPRG	5793	broad.mit.edu	37	chr3	62118333	62118333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacgggttgaagggtgtcGtacatcatggtaagtatgcc	13	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:62118333G>A	uc003dlb.2	+	6	1392	c.673G>A	c.(673-675)GTA>ATA	p.V225I	PTPRG_uc003dlc.2_Missense_Mutation_p.V225I	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	225	Extracellular (Potential).|Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GAAGGGTGTCGTACATCATGG	0.438													A	62118333	G	A	62118333	3	1	104	1	0	0	0	0	1	0	0	0	12802	1145	40	1	695	1	PTPRG	3	62118333	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3247966	62118333	135904097	1513	68127											
CADPS	8618	broad.mit.edu	37	chr3	62522188	62522188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccatctcaaagagggaagCgtggtcaaagttacaggggt	13	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:62522188C>T	uc003dll.2	-	12	2395	c.2035G>A	c.(2035-2037)GCT>ACT	p.A679T	CADPS_uc003dlk.1_Missense_Mutation_p.A183T|CADPS_uc003dlm.2_Missense_Mutation_p.A679T|CADPS_uc003dln.2_Missense_Mutation_p.A679T	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	679					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AAGAGGGAAGCGTGGTCAAAG	0.398													T	62522188	C	T	62522188	3	4	104	1	0	0	0	0	1	0	0	0	2570	768	27	1	2175	1	CADPS	3	62522188	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	403855	62522188	135500242	1514	68128											
CADPS	8618	broad.mit.edu	37	chr3	62636621	62636621	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgtggctgcgtttgagtttCtggagcttgaactccccgcc	12	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:62636621C>A	uc003dll.2	-	5	1464	c.1104G>T	c.(1102-1104)CAG>CAT	p.Q368H	CADPS_uc003dlm.2_Missense_Mutation_p.Q368H|CADPS_uc003dln.2_Missense_Mutation_p.Q368H	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	368					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTTTGAGTTTCTGGAGCTTGA	0.512													A	62636621	C	A	62636621	3	1	104	1	0	0	0	0	1	0	0	0	2570	912	32	5	3134	5	CADPS	3	62636621	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	114433	62636621	135385809	1515	68129											
PRICKLE2	166336	broad.mit.edu	37	chr3	64085446	64085446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgggcagagagcaggctgcGaactgactctgcgctccgga	15	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:64085446G>A	uc003dmf.2	-	8	2402	c.1816C>T	c.(1816-1818)CGC>TGC	p.R606C		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	606						cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		AGCAGGCTGCGAACTGACTCT	0.562													A	64085446	G	A	64085446	3	1	104	1	0	0	0	0	1	0	0	0	12487	1058	37	1	722	1	PRICKLE2	3	64085446	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1448825	64085446	133936984	1516	68130											
ADAMTS9	56999	broad.mit.edu	37	chr3	64608121	64608121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaagttcttgctcaatgCgatctgttgagttaattctt	8	7	4	1	rs148570059		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:64608121C>T	uc003dmg.2	-	17	2563	c.2531G>A	c.(2530-2532)CGC>CAC	p.R844H	ADAMTS9_uc011bfo.1_Missense_Mutation_p.R816H|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R673H|ADAMTS9_uc003dmk.1_Missense_Mutation_p.R844H	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	844	Spacer.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTGCTCAATGCGATCTGTTGA	0.453													T	64608121	C	T	64608121	3	4	104	1	0	0	0	0	1	0	0	0	273	768	27	1	3368	1	ADAMTS9	3	64608121	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	522675	64608121	133414309	1517	68131											
ADAMTS9	56999	broad.mit.edu	37	chr3	64617528	64617528	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgccactgttttgcatgaaGaattatcgccaccacaaacc	6	13	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:64617528G>T	uc003dmg.2	-	15	2281	c.2249C>A	c.(2248-2250)TCT>TAT	p.S750Y	ADAMTS9_uc011bfo.1_Missense_Mutation_p.S722Y|ADAMTS9_uc003dmh.1_Missense_Mutation_p.S579Y|ADAMTS9_uc003dmk.1_Missense_Mutation_p.S750Y	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	750	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTTGCATGAAGAATTATCGCC	0.358													T	64617528	G	T	64617528	3	4	104	1	0	0	0	0	1	0	0	0	273	942	33	5	3658	5	ADAMTS9	3	64617528	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	9407	64617528	133404902	1518	68132											
SLC25A26	115286	broad.mit.edu	37	chr3	66293694	66293694	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctgattcatcttcatatttGacacctatgaaacatatgtt	5	8	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:66293694G>T	uc011bfq.1	+	4	986	c.258G>T	c.(256-258)TTG>TTT	p.L86F	SLC25A26_uc011bfs.1_5'UTR|SLC25A26_uc011bft.1_RNA|SLC25A26_uc011bfr.1_Missense_Mutation_p.L86F|SLC25A26_uc003dmt.2_5'UTR	NM_173471	NP_775742	Q70HW3	SAMC_HUMAN	solute carrier family 25, member 26 isoform a	86	Solcar 2.|Helical; Name=3; (Potential).					integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity			pancreas(1)	1		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		CTTCATATTTGACACCTATGA	0.343													T	66293694	G	T	66293694	3	4	104	1	0	0	0	0	1	0	0	0	14489	1281	45	5	70	5	SLC25A26	3	66293694	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1676166	66293694	131728736	1519	68133											
LRIG1	26018	broad.mit.edu	37	chr3	66448589	66448589	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaaactggacagatctgatCgcattccctccaaggttcct	7	13	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:66448589C>T	uc003dmx.2	-	11	1265	c.1251G>A	c.(1249-1251)GCG>GCA	p.A417A	LRIG1_uc011bfu.1_Silent_p.A37A|LRIG1_uc003dmw.2_Silent_p.A83A|LRIG1_uc010hnz.2_Silent_p.A133A|LRIG1_uc010hoa.2_Silent_p.A441A	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	417	Extracellular (Potential).|LRR 15.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CAGATCTGATCGCATTCCCTC	0.428													T	66448589	C	T	66448589	2	4	104	1	0	0	0	0	0	0	0	1	8944	871	31	1		1	LRIG1	3	66448589	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	154895	66448589	131573841	1520	68134											
SUCLG2	8801	broad.mit.edu	37	chr3	67559310	67559310	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaagagattatacagcttCgtaatttgatctgcagccta	9	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:67559310C>T	uc003dna.3	-	7	706	c.678G>A	c.(676-678)ACG>ACA	p.T226T	SUCLG2_uc010hob.2_Intron	NM_003848	NP_003839	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming beta subunit	226	ATP-grasp.				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|skin(1)	2		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	TATACAGCTTCGTAATTTGAT	0.323													T	67559310	C	T	67559310	2	4	104	1	0	0	0	0	0	0	0	1	15364	871	31	1		1	SUCLG2	3	67559310	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1110721	67559310	130463120	1521	68135											
LMOD3	56203	broad.mit.edu	37	chr3	69168243	69168243	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggggcagccccaacccattCtctaacatggctatcagctt	9	14	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:69168243C>A	uc003dns.2	-	2	1472	c.1263G>T	c.(1261-1263)GAG>GAT	p.E421D	LMOD3_uc003dnt.2_Missense_Mutation_p.E421D	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	421	Potential.					cytoplasm|cytoskeleton	tropomyosin binding			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CCAACCCATTCTCTAACATGG	0.532													A	69168243	C	A	69168243	3	1	104	1	0	0	0	0	1	0	0	0	8858	912	32	5	427	5	LMOD3	3	69168243	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1608933	69168243	128854187	1522	68136											
LMOD3	56203	broad.mit.edu	37	chr3	69168701	69168701	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacaaagtccagtaacatttCtttggggatgttttcaatgt	9	6	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:69168701C>A	uc003dns.2	-	2	1014	c.805G>T	c.(805-807)GAA>TAA	p.E269*	LMOD3_uc003dnt.2_Nonsense_Mutation_p.E269*	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	269						cytoplasm|cytoskeleton	tropomyosin binding			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		AGTAACATTTCTTTGGGGATG	0.408													A	69168701	C	A	69168701	4	1	104	1	0	0	0	0	0	1	0	0	8858	922	32	5	885	5	LMOD3	3	69168701	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	458	69168701	128853729	1523	68137											
SHQ1	55164	broad.mit.edu	37	chr3	72881596	72881596	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcagctgcaggggtgaaatCtggatccttaatatcaataa	9	7	3	1	rs143636968	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:72881596C>A	uc003dpf.2	-	5	630	c.523G>T	c.(523-525)GAT>TAT	p.D175Y	SHQ1_uc010hod.2_Missense_Mutation_p.D86Y	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	SHQ1 homolog	175					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			ovary(2)|large_intestine(1)	3		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		GGGGTGAAATCTGGATCCTTA	0.403													A	72881596	C	A	72881596	3	1	104	1	0	0	0	0	1	0	0	0	14292	913	32	5	1238	5	SHQ1	3	72881596	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3712895	72881596	125140834	1524	68138											
CNTN3	5067	broad.mit.edu	37	chr3	74411169	74411169	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accaacttcttcattggattCtttgaaaaatctggagcaga	7	8	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:74411169C>A	uc003dpm.1	-	10	1316	c.1236G>T	c.(1234-1236)AAG>AAT	p.K412N		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	412	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCATTGGATTCTTTGAAAAAT	0.458													A	74411169	C	A	74411169	3	1	104	1	0	0	0	0	1	0	0	0	3642	912	32	5	1902	5	CNTN3	3	74411169	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1529573	74411169	123611261	1525	68139											
ROBO2	6092	broad.mit.edu	37	chr3	77526693	77526693	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actggaaaaaagacaaagttCgaattgatgacaaggaagaa	10	4	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:77526693C>T	uc003dpy.3	+	3	1160	c.517C>T	c.(517-519)CGA>TGA	p.R173*	ROBO2_uc003dpz.2_Nonsense_Mutation_p.R173*|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Nonsense_Mutation_p.R173*	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	173	Ig-like C2-type 2.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGACAAAGTTCGAATTGATGA	0.423													T	77526693	C	T	77526693	4	4	104	1	0	0	0	0	0	1	0	0	13514	876	31	1	529	1	ROBO2	3	77526693	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3115524	77526693	120495737	1526	68140											
ROBO2	6092	broad.mit.edu	37	chr3	77684173	77684173	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacaaccagcattgcctcatCgaagggaaggaatgacagat	10	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:77684173C>T	uc003dpy.3	+	24	4556	c.3913C>T	c.(3913-3915)CGA>TGA	p.R1305*	ROBO2_uc003dpz.2_Nonsense_Mutation_p.R1370*|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Nonsense_Mutation_p.R1309*	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1305	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATTGCCTCATCGAAGGGAAGG	0.483													T	77684173	C	T	77684173	4	4	104	1	0	0	0	0	0	1	0	0	13514	876	31	1	4009	1	ROBO2	3	77684173	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	157480	77684173	120338257	1527	68141											
ROBO1	6091	broad.mit.edu	37	chr3	78649283	78649283	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctctaattcttcattattatCttctcctctttcatatcctc	0	13	7	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:78649283C>A	uc003dqe.2	-	30	5129	c.4921G>T	c.(4921-4923)GAT>TAT	p.D1641Y	ROBO1_uc003dqb.2_Missense_Mutation_p.D1602Y|ROBO1_uc003dqc.2_Missense_Mutation_p.D1541Y|ROBO1_uc003dqd.2_Missense_Mutation_p.D1596Y|ROBO1_uc010hoh.2_Missense_Mutation_p.D833Y	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1641	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCATTATTATCTTCTCCTCTT	0.368													A	78649283	C	A	78649283	3	1	104	1	0	0	0	0	1	0	0	0	13513	913	32	5	42	5	ROBO1	3	78649283	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	965110	78649283	119373147	1528	68142											
GBE1	2632	broad.mit.edu	37	chr3	81698040	81698040	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttggtagtacattgcatgTaaaatgtttataagaagcta	8	4	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:81698040T>C	uc003dqg.2	-	6	941	c.658A>G	c.(658-660)ACA>GCA	p.T220A	GBE1_uc011bgm.1_Missense_Mutation_p.T179A	NM_000158	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	220					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(3)	3		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		ACATTGCATGTAAAATGTTTA	0.328									Glycogen_Storage_Disease_type_IV				C	81698040	T	C	81698040	3	2	104	1	0	0	0	0	1	0	0	0	6270	1638	57	3	1498	3	GBE1	3	81698040	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	3048757	81698040	116324390	1529	68143											
EPHA3	2042	broad.mit.edu	37	chr3	89259419	89259419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatttcaagatgttggtgCttgtgttgccttggtgtctg	14	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:89259419C>T	uc003dqy.2	+	3	788	c.563C>T	c.(562-564)GCT>GTT	p.A188V	EPHA3_uc003dqx.1_Missense_Mutation_p.A188V|EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	188	Extracellular (Potential).					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GATGTTGGTGCTTGTGTTGCC	0.443										TSP Lung(6;0.00050)			T	89259419	C	T	89259419	3	4	104	1	0	0	0	0	1	0	0	0	5168	797	28	2	573	2	EPHA3	3	89259419	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7561379	89259419	108763011	1530	68144											
STX19	415117	broad.mit.edu	37	chr3	93734063	93734063	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatacatgactgtctctagaGagttcaatttcctttgttct	7	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:93734063G>T	uc003drh.1	-	2	308	c.51C>A	c.(49-51)CTC>CTA	p.L17L	ARL13B_uc003drc.2_Intron|ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Intron|ARL13B_uc003drf.2_Intron|ARL13B_uc003drg.2_Intron	NM_001001850	NP_001001850	Q8N4C7	STX19_HUMAN	syntaxin 19	17					intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity				0						TGTCTCTAGAGAGTTCAATTT	0.393													T	93734063	G	T	93734063	2	4	104	1	0	0	0	0	0	0	0	1	15341	929	33	5		5	STX19	3	93734063	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4474644	93734063	104288367	1531	68145											
DHFRL1	200895	broad.mit.edu	37	chr3	93780181	93780181	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcttctcaggaatggagaAccaggtcttcctacccataa	7	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:93780181A>G	uc003dri.2	-	2	341	c.175T>C	c.(175-177)TTC>CTC	p.F59L	DHFRL1_uc003drj.2_Missense_Mutation_p.F59L|NSUN3_uc003drk.2_5'Flank|NSUN3_uc003drl.1_5'Flank	NM_176815	NP_789785	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	59	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding				0						GGAATGGAGAACCAGGTCTTC	0.438													G	93780181	A	G	93780181	3	3	104	1	0	0	0	0	1	0	0	0	4482	43	2	3	392	3	DHFRL1	3	93780181	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	46118	93780181	104242249	1532	68146											
EPHA6	285220	broad.mit.edu	37	chr3	96706417	96706417	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcagatgagtcccacggaAttaaattcaagccaaaccag	7	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:96706417A>C	uc010how.1	+	3	737	c.694A>C	c.(694-696)ATT>CTT	p.I232L	EPHA6_uc003drp.1_Missense_Mutation_p.I232L	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	137	Ephrin-binding.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						GTCCCACGGAATTAAATTCAA	0.408													C	96706417	A	C	96706417	3	2	104	1	0	0	0	0	1	0	0	0	5171	101	4	5	704	5	EPHA6	3	96706417	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2926236	96706417	101316013	1533	68147											
EPHA6	285220	broad.mit.edu	37	chr3	97467501	97467501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcagcatacagactttaCgtttacacatgatgcacata	6	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:97467501C>T	uc010how.1	+	18	3392	c.3349C>T	c.(3349-3351)CGT>TGT	p.R1117C		NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	1022	SAM.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						ACAGACTTTACGTTTACACAT	0.358													T	97467501	C	T	97467501	3	4	104	1	0	0	0	0	1	0	0	0	5171	536	19	1	3536	1	EPHA6	3	97467501	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	761084	97467501	100554929	1534	68148											
CRYBG3	131544	broad.mit.edu	37	chr3	97598582	97598582	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aactctgagatgtaacccaaGacctgggaaggtaaggataa	11	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:97598582G>T	uc003drx.2	+	2	1098	c.1034G>T	c.(1033-1035)AGA>ATA	p.R345I		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						TGTAACCCAAGACCTGGGAAG	0.313													T	97598582	G	T	97598582	3	4	104	1	0	0	0	0	1	0	0	0	3913	942	33	5	1040	5	CRYBG3	3	97598582	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	131081	97598582	100423848	1535	68149											
GABRR3	200959	broad.mit.edu	37	chr3	97744433	97744433	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaaatccaggtctcattgcGaaatcgttgtcctctatatg	7	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:97744433G>A	uc011bgr.1	-	2	216	c.216C>T	c.(214-216)TTC>TTT	p.F72F		NM_001105580	NP_001099050	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 3	72	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0						GTCTCATTGCGAAATCGTTGT	0.403													A	97744433	G	A	97744433	2	1	104	1	0	0	0	0	0	0	0	1	6178	1049	37	1		1	GABRR3	3	97744433	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	145851	97744433	100277997	1536	68150											
OR5H15	403274	broad.mit.edu	37	chr3	97888229	97888229	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcacagtcttagaaaagaAatctgataagggtgtaagga	10	5	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:97888229A>C	uc011bgu.1	+	1	686	c.686A>C	c.(685-687)AAA>ACA	p.K229T		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TTAGAAAAGAAATCTGATAAG	0.383													C	97888229	A	C	97888229	3	2	104	1	0	0	0	0	1	0	0	0	11161	14	1	5	688	5	OR5H15	3	97888229	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	143796	97888229	100134201	1537	68151											
OR5K2	402135	broad.mit.edu	37	chr3	98217437	98217437	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taagtgtcttaagaaaaattCtgctgaaaataaaatctcaa	5	5	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:98217437C>A	uc011bgx.1	+	1	913	c.913C>A	c.(913-915)CTG>ATG	p.L305M		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K,	305	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						AAGAAAAATTCTGCTGAAAAT	0.294													A	98217437	C	A	98217437	3	1	104	1	0	0	0	0	1	0	0	0	11167	912	32	5	915	5	OR5K2	3	98217437	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	329208	98217437	99804993	1538	68152											
GPR15	2838	broad.mit.edu	37	chr3	98251081	98251082	+	Missense_Mutation	DNP	CG	CG	TA													cccggcagccgaagactgatCgacatctttatcatcaatct							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:98251081_98251082CG>TA	uc011bgy.1	+	1	204_205	c.204_205CG>TA	c.(202-207)ATCGAC>ATTAAC	p.D69N		NM_005290	NP_005281	P49685	GPR15_HUMAN	G protein-coupled receptor 15	69	Cytoplasmic (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		GAAGACTGATCGACATCTTTAT	0.495													TA	98251082	CG	TA	98251081	3	4	104	1	0	0	0	0	1	0	0	0	6655	874	31	1	206	1	GPR15	3	98251081	Missense_Mutation	DNP	CG	TCGA-BR-8680-01A-11D-2394-08	33644	98251081	99771349	1539	68153											
ST3GAL6	10402	broad.mit.edu	37	chr3	98487301	98487301	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccatgagagggtatcttgTggccatattcctgagtgctg	13	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:98487301T>C	uc003dsz.2	+	2	253	c.17T>C	c.(16-18)GTG>GCG	p.V6A	ST3GAL6_uc003dsy.2_5'UTR|ST3GAL6_uc003dta.2_5'UTR|ST3GAL6_uc003dtb.2_Intron|ST3GAL6_uc003dtc.2_Missense_Mutation_p.V6A|ST3GAL6_uc010hpd.2_Missense_Mutation_p.V59A	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	alpha2,3-sialyltransferase VI	6	Helical; Signal-anchor for type II membrane protein; (Potential).				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			ovary(1)	1						GGGTATCTTGTGGCCATATTC	0.383													C	98487301	T	C	98487301	3	2	104	1	0	0	0	0	1	0	0	0	15218	1696	59	3	19	3	ST3GAL6	3	98487301	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	236220	98487301	99535129	1540	68154											
DCBLD2	131566	broad.mit.edu	37	chr3	98536721	98536721	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgctccaccatggtggaTccagtggttataatgcctgg	12	9	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:98536721T>C	uc003dtd.2	-	9	1467	c.1104A>G	c.(1102-1104)GGA>GGG	p.G368G	DCBLD2_uc003dte.2_Silent_p.G368G	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	368	Extracellular (Potential).|F5/8 type C.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3						CCATGGTGGATCCAGTGGTTA	0.438													C	98536721	T	C	98536721	2	2	104	1	0	0	0	0	0	0	0	1	4281	1422	50	3		3	DCBLD2	3	98536721	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	49420	98536721	99485709	1541	68155											
FILIP1L	11259	broad.mit.edu	37	chr3	99568649	99568649	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgagagagctccttaatcTtattgttttcttggtgtaat	8	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:99568649T>G	uc003dtm.2	-	5	2334	c.1871A>C	c.(1870-1872)AAG>ACG	p.K624T	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.K624T|FILIP1L_uc010hpf.2_Missense_Mutation_p.K200T|FILIP1L_uc010hpg.2_Missense_Mutation_p.K384T|FILIP1L_uc003dtn.2_Missense_Mutation_p.K384T|FILIP1L_uc003dtp.1_Missense_Mutation_p.K384T	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	624	Potential.					cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						CTCCTTAATCTTATTGTTTTC	0.363													G	99568649	T	G	99568649	3	3	104	1	0	0	0	0	1	0	0	0	5895	1609	56	5	1565	5	FILIP1L	3	99568649	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1031928	99568649	98453781	1542	68156											
FILIP1L	11259	broad.mit.edu	37	chr3	99648715	99648715	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catacctcattcattggtttCtcatagatgtcctcctgcca	5	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:99648715C>A	uc003dtm.2	-	3	874	c.411G>T	c.(409-411)GAG>GAT	p.E137D	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.E137D	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	137						cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						TCATTGGTTTCTCATAGATGT	0.473													A	99648715	C	A	99648715	3	1	104	1	0	0	0	0	1	0	0	0	5895	912	32	5	3033	5	FILIP1L	3	99648715	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	80066	99648715	98373715	1543	68157											
C3orf26	84319	broad.mit.edu	37	chr3	99890693	99890693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcattaggtcgatgacaGcattcagaggagacggcaaa	11	7	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:99890693G>A	uc003dtl.2	+	7	672	c.529G>A	c.(529-531)GCA>ACA	p.A177T		NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	hypothetical protein LOC84319	177							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(1)	1						GTCGATGACAGCATTCAGAGG	0.408													A	99890693	G	A	99890693	3	1	104	1	0	0	0	0	1	0	0	0	2218	971	34	2	569	2	C3orf26	3	99890693	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	241978	99890693	98131737	1544	68158											
LNP1	348801	broad.mit.edu	37	chr3	100170651	100170651	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttcgatgccgtagccacgTacgggattacagaaaatact	9	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:100170651T>C	uc003dtx.3	+	3	1525	c.245T>C	c.(244-246)GTA>GCA	p.V82A	LNP1_uc003dty.3_RNA|LNP1_uc011bhb.1_RNA	NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	82											0						CGTAGCCACGTACGGGATTAC	0.443													C	100170651	T	C	100170651	3	2	104	1	0	0	0	0	1	0	0	0	8863	1638	57	3	251	3	LNP1	3	100170651	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	279958	100170651	97851779	1545	68159											
LNP1	348801	broad.mit.edu	37	chr3	100174638	100174638	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggacctgaaagcagaaaGgagagaaatgaaagagaatg	14	4	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:100174638G>T	uc003dtx.3	+	4	1685	c.405G>T	c.(403-405)AAG>AAT	p.K135N	LNP1_uc003dty.3_RNA|LNP1_uc011bhb.1_RNA	NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	135											0						AAAGCAGAAAGGAGAGAAATG	0.423													T	100174638	G	T	100174638	3	4	104	1	0	0	0	0	1	0	0	0	8863	991	35	5	415	5	LNP1	3	100174638	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3987	100174638	97847792	1546	68160											
ABI3BP	25890	broad.mit.edu	37	chr3	100511604	100511604	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggttcttgggtggattggtCtgtttcttctagagaaaaca	12	5	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:100511604C>A	uc003dun.2	-	23	1982	c.1897G>T	c.(1897-1899)GAC>TAC	p.D633Y	ABI3BP_uc003duj.2_Missense_Mutation_p.D188Y|ABI3BP_uc003duk.2_Missense_Mutation_p.D317Y|ABI3BP_uc003dul.2_Missense_Mutation_p.D438Y|ABI3BP_uc011bhd.1_Missense_Mutation_p.D587Y|ABI3BP_uc003dum.2_Missense_Mutation_p.D19Y	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	633	Pro-rich.					extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						GTGGATTGGTCTGTTTCTTCT	0.373													A	100511604	C	A	100511604	3	1	104	1	0	0	0	0	1	0	0	0	91	913	32	5	1382	5	ABI3BP	3	100511604	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	336966	100511604	97510826	1547	68161											
ABI3BP	25890	broad.mit.edu	37	chr3	100605153	100605153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttatccttttctcgatagCgaattgtataaaatctgttg	6	7	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:100605153C>T	uc003dun.2	-	5	582	c.497G>A	c.(496-498)CGC>CAC	p.R166H	ABI3BP_uc003duo.2_Missense_Mutation_p.R159H|ABI3BP_uc003dup.3_Missense_Mutation_p.R159H	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	166	Fibronectin type-III 1.					extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						TTCTCGATAGCGAATTGTATA	0.313													T	100605153	C	T	100605153	3	4	104	1	0	0	0	0	1	0	0	0	91	768	27	1	2854	1	ABI3BP	3	100605153	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	93549	100605153	97417277	1548	68162											
ZBTB11	27107	broad.mit.edu	37	chr3	101395663	101395663	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcggcagcttttcggatTttacgcttgacattgccctc	10	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:101395663T>G	uc003dve.3	-	1	326	c.96A>C	c.(94-96)AAA>AAC	p.K32N	ZBTB11_uc003dvf.2_Missense_Mutation_p.K32N|LOC100009676_uc003dvg.2_Missense_Mutation_p.F59V	NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						CTTTTCGGATTTTACGCTTGA	0.647													G	101395663	T	G	101395663	3	3	104	1	0	0	0	0	1	0	0	0	17521	1838	64	5	3109	5	ZBTB11	3	101395663	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	790510	101395663	96626767	1549	68163											
FAM55C	91775	broad.mit.edu	37	chr3	101520806	101520806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacctgaaaggtctcctaaCcgctgcagagagtgctttct	9	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:101520806C>T	uc003dvn.2	+	5	1458	c.821C>T	c.(820-822)ACC>ATC	p.T274I	FAM55C_uc010hpn.2_Missense_Mutation_p.T274I	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	274						extracellular region				ovary(1)|pancreas(1)|skin(1)	3						GGTCTCCTAACCGCTGCAGAG	0.468													T	101520806	C	T	101520806	3	4	104	1	0	0	0	0	1	0	0	0	5586	507	18	4	827	4	FAM55C	3	101520806	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	125143	101520806	96501624	1550	68164											
HHLA2	11148	broad.mit.edu	37	chr3	108072323	108072323	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttcctatgaatgaacaaatCgtcattggaagacttgatga	9	6	1	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:108072323C>T	uc003dwy.3	+	4	281	c.114C>T	c.(112-114)ATC>ATT	p.I38I	HHLA2_uc011bhl.1_Intron|HHLA2_uc010hpu.2_Silent_p.I38I|HHLA2_uc003dwz.2_Silent_p.I38I	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2 precursor	38						integral to membrane				ovary(1)	1						ATGAACAAATCGTCATTGGAA	0.373													T	108072323	C	T	108072323	2	4	104	1	0	0	0	0	0	0	0	1	7095	874	31	1		1	HHLA2	3	108072323	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	6551517	108072323	89950107	1551	68165											
HHLA2	11148	broad.mit.edu	37	chr3	108072555	108072555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagagtaagccttctggacGaaggaatttacacctgctat	10	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:108072555G>A	uc003dwy.3	+	4	513	c.346G>A	c.(346-348)GAA>AAA	p.E116K	HHLA2_uc011bhl.1_Missense_Mutation_p.E52K|HHLA2_uc010hpu.2_Missense_Mutation_p.E116K|HHLA2_uc003dwz.2_Missense_Mutation_p.E116K	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2 precursor	116	Ig-like V-type 1.					integral to membrane				ovary(1)	1						CCTTCTGGACGAAGGAATTTA	0.398													A	108072555	G	A	108072555	3	1	104	1	0	0	0	0	1	0	0	0	7095	1059	37	1	352	1	HHLA2	3	108072555	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	232	108072555	89949875	1552	68166											
GUCA1C	9626	broad.mit.edu	37	chr3	108627035	108627035	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgccatgccattgataAattcttctaaagtcaattcc	4	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:108627035A>C	uc003dxj.2	-	4	532	c.464T>G	c.(463-465)TTT>TGT	p.F155C	GUCA1C_uc003dxk.2_Missense_Mutation_p.I168M	NM_005459	NP_005450	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	155	EF-hand 4.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0						GCCATTGATAAATTCTTCTAA	0.388													C	108627035	A	C	108627035	3	2	104	1	0	0	0	0	1	0	0	0	6890	14	1	5	169	5	GUCA1C	3	108627035	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	554480	108627035	89395395	1553	68167											
MORC1	27136	broad.mit.edu	37	chr3	108751664	108751664	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggcaagactctccatttaaGacaaagatctgacaatcaaa	6	9	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:108751664G>T	uc003dxl.2	-	16	1555	c.1468C>A	c.(1468-1470)CTT>ATT	p.L490I	MORC1_uc011bhn.1_Missense_Mutation_p.L490I	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	490	CW-type.				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						CTCCATTTAAGACAAAGATCT	0.333													T	108751664	G	T	108751664	3	4	104	1	0	0	0	0	1	0	0	0	9701	942	33	5	1538	5	MORC1	3	108751664	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	124629	108751664	89270766	1554	68168											
ZBED2	79413	broad.mit.edu	37	chr3	111312952	111312952	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacaaaagggccaaccagttCtcctgtctcactaatctctt	5	14	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:111312952C>A	uc003dxy.2	-	2	982	c.97G>T	c.(97-99)GAA>TAA	p.E33*	CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	zinc finger, BED domain containing 2	33							DNA binding|metal ion binding			skin(1)	1						CCAACCAGTTCTCCTGTCTCA	0.522													A	111312952	C	A	111312952	4	1	104	1	0	0	0	0	0	1	0	0	17515	922	32	5	563	5	ZBED2	3	111312952	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2561288	111312952	86709478	1555	68169											
CD96	10225	broad.mit.edu	37	chr3	111325554	111325554	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaatcctttaaggttctgaAatttcctcaacagaccctcc	4	13	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:111325554A>C	uc003dxw.2	+	9	1313	c.1143A>C	c.(1141-1143)GAA>GAC	p.E381D	CD96_uc003dxv.2_Missense_Mutation_p.E365D|CD96_uc003dxx.2_Missense_Mutation_p.E365D|CD96_uc010hpy.1_Missense_Mutation_p.E365D	NM_198196	NP_937839	P40200	TACT_HUMAN	CD96 antigen isoform 1 precursor	381	Extracellular (Potential).|Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				skin(2)|central_nervous_system(1)	3						AAGGTTCTGAAATTTCCTCAA	0.343									Opitz_Trigonocephaly_syndrome				C	111325554	A	C	111325554	3	2	104	1	0	0	0	0	1	0	0	0	3048	11	1	5	1177	5	CD96	3	111325554	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	12602	111325554	86696876	1556	68170											
PHLDB2	90102	broad.mit.edu	37	chr3	111671489	111671489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgagtgatactttgcctcGaaagaaaaccacatcttcca	6	11	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:111671489G>A	uc010hqa.2	+	11	3113	c.2702G>A	c.(2701-2703)CGA>CAA	p.R901Q	PHLDB2_uc003dyc.2_Missense_Mutation_p.R885Q|PHLDB2_uc003dyd.2_Missense_Mutation_p.R858Q|PHLDB2_uc003dyg.2_Missense_Mutation_p.R901Q|PHLDB2_uc003dyh.2_Missense_Mutation_p.R858Q|PHLDB2_uc003dyi.2_Intron	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	901						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						ACTTTGCCTCGAAAGAAAACC	0.448													A	111671489	G	A	111671489	3	1	104	1	0	0	0	0	1	0	0	0	11852	1058	37	1	2825	1	PHLDB2	3	111671489	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	345935	111671489	86350941	1557	68171											
ABHD10	55347	broad.mit.edu	37	chr3	111700772	111700772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatggtacaaaagcgttggCgattgaggagttttgcaaat	13	4	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:111700772C>T	uc003dyk.3	+	2	365	c.284C>T	c.(283-285)GCG>GTG	p.A95V	ABHD10_uc011bhq.1_Intron	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10 precursor	95						mitochondrion	serine-type peptidase activity				0						AAAGCGTTGGCGATTGAGGAG	0.398													T	111700772	C	T	111700772	3	4	104	1	0	0	0	0	1	0	0	0	74	768	27	1	290	1	ABHD10	3	111700772	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	29283	111700772	86321658	1558	68172											
SLC9A10	285335	broad.mit.edu	37	chr3	111898376	111898376	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacaggcgaagtttttctgAcctccactacagttttgcag	8	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:111898376A>G	uc003dyu.2	-	23	3141	c.2919_splice	c.e23+1	p.E973_splice	SLC9A10_uc011bhu.1_Splice_Site_p.E236_splice|SLC9A10_uc010hqc.2_Splice_Site_p.E925_splice	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger						cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5						AGTTTTTCTGACCTCCACTAC	0.323													G	111898376	A	G	111898376	5	3	104	1	0	0	0	0	0	0	1	0	14710	289	10	3	640	3	SLC9A10	3	111898376	Splice_Site	SNP	A	TCGA-BR-8680-01A-11D-2394-08	197604	111898376	86124054	1559	68173											
SLC9A10	285335	broad.mit.edu	37	chr3	111921223	111921223	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcattcttttatctattatTtgcagcaactttggtgctat	5	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:111921223T>G	uc003dyu.2	-	18	2418	c.2196A>C	c.(2194-2196)CAA>CAC	p.Q732H	SLC9A10_uc011bhu.1_5'UTR|SLC9A10_uc010hqc.2_Missense_Mutation_p.Q684H	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	732					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5						TATCTATTATTTGCAGCAACT	0.313													G	111921223	T	G	111921223	3	3	104	1	0	0	0	0	1	0	0	0	14710	1838	64	5	1385	5	SLC9A10	3	111921223	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	22847	111921223	86101207	1560	68174											
CCDC80	151887	broad.mit.edu	37	chr3	112326098	112326098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagaatggttatgtggcGcagacctgagagaaaaaaga	12	6	1	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:112326098G>A	uc003dzf.2	-	7	2649	c.2431C>T	c.(2431-2433)CGC>TGC	p.R811C	CCDC80_uc011bhv.1_Intron|CCDC80_uc003dzg.2_Missense_Mutation_p.R811C|CCDC80_uc003dzh.1_Missense_Mutation_p.R811C	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	811										ovary(2)	2						GTTATGTGGCGCAGACCTGAG	0.373													A	112326098	G	A	112326098	3	1	104	1	0	0	0	0	1	0	0	0	2854	1087	38	1	429	1	CCDC80	3	112326098	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	404875	112326098	85696332	1561	68175											
CCDC80	151887	broad.mit.edu	37	chr3	112358445	112358445	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgctggtctttgctcaggtCtcacggcggccccattgatg	12	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:112358445C>A	uc003dzf.2	-	2	526	c.308G>T	c.(307-309)AGA>ATA	p.R103I	CCDC80_uc011bhv.1_Missense_Mutation_p.R103I|CCDC80_uc003dzg.2_Missense_Mutation_p.R103I|CCDC80_uc003dzh.1_Missense_Mutation_p.R103I	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	103										ovary(2)	2						TTGCTCAGGTCTCACGGCGGC	0.612													A	112358445	C	A	112358445	3	1	104	1	0	0	0	0	1	0	0	0	2854	913	32	5	2572	5	CCDC80	3	112358445	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	32347	112358445	85663985	1562	68176											
CD200R1L	344807	broad.mit.edu	37	chr3	112546460	112546460	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccatgttattatgatcaAatttcttaatgcgataggag	7	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:112546460A>C	uc003dzi.1	-	3	410	c.184T>G	c.(184-186)TTG>GTG	p.L62V	CD200R1L_uc011bhw.1_Missense_Mutation_p.L41V|CD200R1L_uc010hqf.1_Missense_Mutation_p.L41V	NM_001008784	NP_001008784	Q6Q8B3	MO2R2_HUMAN	CD200 cell surface glycoprotein receptor 2	62	Ig-like V-type.|Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)	1						ATTATGATCAAATTTCTTAAT	0.398													C	112546460	A	C	112546460	3	2	104	1	0	0	0	0	1	0	0	0	2982	11	1	5	647	5	CD200R1L	3	112546460	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	188015	112546460	85475970	1563	68177											
C3orf17	25871	broad.mit.edu	37	chr3	112730203	112730203	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctcttgaagcaatccaaacAaaggctcatataacaaaatc	4	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:112730203A>T	uc003dzr.2	-	6	663	c.602T>A	c.(601-603)TTG>TAG	p.L201*	GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_5'Flank|C3orf17_uc011bhz.1_Intron|C3orf17_uc010hqh.2_Intron|C3orf17_uc003dzt.2_Nonsense_Mutation_p.L104*|C3orf17_uc003dzs.2_Nonsense_Mutation_p.L65*|C3orf17_uc010hqg.2_Nonsense_Mutation_p.L26*|C3orf17_uc011bia.1_Intron|C3orf17_uc003dzu.2_Nonsense_Mutation_p.L130*|C3orf17_uc011bib.1_Nonsense_Mutation_p.L90*|C3orf17_uc011bic.1_Nonsense_Mutation_p.L34*|C3orf17_uc011bid.1_RNA	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	hypothetical protein LOC25871	201						integral to membrane					0						CAATCCAAACAAAGGCTCATA	0.348													T	112730203	A	T	112730203	4	4	104	1	0	0	0	0	0	1	0	0	2210	131	5	5	1117	5	C3orf17	3	112730203	Nonsense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	183743	112730203	85292227	1564	68178											
BOC	91653	broad.mit.edu	37	chr3	112999414	112999414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccctatagtacatcccaGcaagtaacaacaacacccca	3	15	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:112999414G>A	uc003dzx.2	+	14	2833	c.2212G>A	c.(2212-2214)GCA>ACA	p.A738T	BOC_uc003dzy.2_Missense_Mutation_p.A738T|BOC_uc003dzz.2_Missense_Mutation_p.A739T|BOC_uc003eab.2_Missense_Mutation_p.A439T|BOC_uc003eac.2_Missense_Mutation_p.A53T	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	738	Fibronectin type-III 3.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			GTACATCCCAGCAAGTAACAA	0.423													A	112999414	G	A	112999414	3	1	104	1	0	0	0	0	1	0	0	0	1481	971	34	2	2258	2	BOC	3	112999414	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	269211	112999414	85023016	1565	68179											
BOC	91653	broad.mit.edu	37	chr3	113005647	113005647	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtaggacaggaacctggaAtgcagctctccccggggcca	13	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:113005647A>G	uc003dzx.2	+	20	3904	c.3283A>G	c.(3283-3285)ATG>GTG	p.M1095V	BOC_uc003dzy.2_Missense_Mutation_p.M1095V|BOC_uc003dzz.2_Missense_Mutation_p.M1096V|BOC_uc003eab.2_Missense_Mutation_p.M796V|BOC_uc003eac.2_Intron	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	1095	Cytoplasmic (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			GGAACCTGGAATGCAGCTCTC	0.532													G	113005647	A	G	113005647	3	3	104	1	0	0	0	0	1	0	0	0	1481	101	4	3	3353	3	BOC	3	113005647	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	6233	113005647	85016783	1566	68180											
SIDT1	54847	broad.mit.edu	37	chr3	113321949	113321949	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccgtggaggagagcgacttCgacaccatgccagacattga	12	11	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:113321949C>T	uc003eak.2	+	12	1866	c.1215C>T	c.(1213-1215)TTC>TTT	p.F405F	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Silent_p.F405F|SIDT1_uc011big.1_Silent_p.F158F|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_5'Flank	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	405	Cytoplasmic (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						AGAGCGACTTCGACACCATGC	0.557													T	113321949	C	T	113321949	2	4	104	1	0	0	0	0	0	0	0	1	14302	883	31	1		1	SIDT1	3	113321949	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	316302	113321949	84700481	1567	68181											
SIDT1	54847	broad.mit.edu	37	chr3	113322822	113322822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagatgttcctttacctgTcagatttgtccaggaaggac	9	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:113322822T>C	uc003eak.2	+	13	1930	c.1279T>C	c.(1279-1281)TCA>CCA	p.S427P	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.S427P|SIDT1_uc011big.1_Missense_Mutation_p.S180P|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_5'Flank	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	427	Cytoplasmic (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						CCTTTACCTGTCAGATTTGTC	0.358													C	113322822	T	C	113322822	3	2	104	1	0	0	0	0	1	0	0	0	14302	1667	58	3	1329	3	SIDT1	3	113322822	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	873	113322822	84699608	1568	68182											
KIAA2018	205717	broad.mit.edu	37	chr3	113377699	113377699	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcacttggagatggaatcaAtacattggctgaagcgcagg	12	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:113377699A>C	uc003eam.2	-	7	3241	c.2830T>G	c.(2830-2832)TTG>GTG	p.L944V	KIAA2018_uc003eal.2_Missense_Mutation_p.L888V	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	944					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						GATGGAATCAATACATTGGCT	0.423													C	113377699	A	C	113377699	3	2	104	1	0	0	0	0	1	0	0	0	8268	98	4	5	3911	5	KIAA2018	3	113377699	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	54877	113377699	84644731	1569	68183											
KIAA2018	205717	broad.mit.edu	37	chr3	113378349	113378349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggctaatagacaattgtAcacagctttgcccagccatc	8	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:113378349A>G	uc003eam.2	-	7	2591	c.2180T>C	c.(2179-2181)GTA>GCA	p.V727A	KIAA2018_uc003eal.2_Missense_Mutation_p.V671A	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	727					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						AGACAATTGTACACAGCTTTG	0.448													G	113378349	A	G	113378349	3	3	104	1	0	0	0	0	1	0	0	0	8268	391	14	3	4561	3	KIAA2018	3	113378349	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	650	113378349	84644081	1570	68184											
ATP6V1A	523	broad.mit.edu	37	chr3	113497631	113497631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaagctacccaaaatactcGatgaagataaagaaagcaca	6	10	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:113497631G>A	uc003eao.2	+	2	97	c.31G>A	c.(31-33)GAT>AAT	p.D11N	ATP6V1A_uc011bik.1_5'UTR	NM_001690	NP_001681	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit A	11					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(2)|skin(1)	3						CAAAATACTCGATGAAGATAA	0.294													A	113497631	G	A	113497631	3	1	104	1	0	0	0	0	1	0	0	0	1177	1058	37	1	33	1	ATP6V1A	3	113497631	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	119282	113497631	84524799	1571	68185											
ATP6V1A	523	broad.mit.edu	37	chr3	113503563	113503563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggtagtcatatcactggCggagacatttatggaattgt	12	5	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:113503563C>T	uc003eao.2	+	5	513	c.447C>T	c.(445-447)GGC>GGT	p.G149G	ATP6V1A_uc011bik.1_Silent_p.G116G	NM_001690	NP_001681	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit A	149					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(2)|skin(1)	3						ATATCACTGGCGGAGACATTT	0.378													T	113503563	C	T	113503563	2	4	104	1	0	0	0	0	0	0	0	1	1177	755	27	1		1	ATP6V1A	3	113503563	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5932	113503563	84518867	1572	68186											
IGSF11	152404	broad.mit.edu	37	chr3	118621425	118621425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgacaggtactgcaccaattCgttccagtgttgcgtggctg	12	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:118621425C>T	uc003ebw.2	-	7	1485	c.1238G>A	c.(1237-1239)CGA>CAA	p.R413Q	IGSF11_uc011biv.1_Missense_Mutation_p.R385Q|IGSF11_uc003ebx.2_Missense_Mutation_p.R389Q|IGSF11_uc003eby.2_Missense_Mutation_p.R412Q|IGSF11_uc003ebz.2_Missense_Mutation_p.R388Q|IGSF11_uc010hqs.2_Missense_Mutation_p.R412Q	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	413	Cytoplasmic (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0						TGCACCAATTCGTTCCAGTGT	0.512													T	118621425	C	T	118621425	3	4	104	1	0	0	0	0	1	0	0	0	7598	884	31	1	61	1	IGSF11	3	118621425	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5117862	118621425	79401005	1573	68187											
IGSF11	152404	broad.mit.edu	37	chr3	118624560	118624560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggtgactgttccctggaCctggtctgtcacaaaaataa	10	9	2	1	rs140836568	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:118624560C>T	uc003ebw.2	-	5	833	c.586G>A	c.(586-588)GTC>ATC	p.V196I	IGSF11_uc011biv.1_Missense_Mutation_p.V196I|IGSF11_uc003ebx.2_Missense_Mutation_p.V196I|IGSF11_uc003eby.2_Missense_Mutation_p.V195I|IGSF11_uc003ebz.2_Missense_Mutation_p.V195I|IGSF11_uc010hqs.2_Missense_Mutation_p.V195I	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	196	Ig-like C2-type.|Extracellular (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0						GTTCCCTGGACCTGGTCTGTC	0.473													T	118624560	C	T	118624560	3	4	104	1	0	0	0	0	1	0	0	0	7598	507	18	4	721	4	IGSF11	3	118624560	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3135	118624560	79397870	1574	68188											
ARHGAP31	57514	broad.mit.edu	37	chr3	119087355	119087355	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacttatgagctctatgagAaattcacggtgagtgtttgg	12	5	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:119087355A>G	uc003ecj.3	+	3	872	c.340A>G	c.(340-342)AAA>GAA	p.K114E		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	114	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						GCTCTATGAGAAATTCACGGT	0.468													G	119087355	A	G	119087355	3	3	104	1	0	0	0	0	1	0	0	0	880	247	9	3	350	3	ARHGAP31	3	119087355	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	462795	119087355	78935075	1575	68189											
KTELC1	56983	broad.mit.edu	37	chr3	119211258	119211258	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggttatgatcaaattatTcccaaaatgttgaaaactga	6	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:119211258T>C	uc003ecm.2	+	11	1236	c.1152T>C	c.(1150-1152)ATT>ATC	p.I384I	KTELC1_uc011bja.1_Silent_p.I225I	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor	384						endoplasmic reticulum lumen	UDP-glucosyltransferase activity				0				GBM - Glioblastoma multiforme(114;0.233)		ATCAAATTATTCCCAAAATGT	0.378													C	119211258	T	C	119211258	2	2	104	1	0	0	0	0	0	0	0	1	8583	1771	62	3		3	KTELC1	3	119211258	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	123903	119211258	78811172	1576	68190											
C3orf1	51300	broad.mit.edu	37	chr3	119219697	119219697	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaatttatcataaccggtTtgatgctgtggtatgtactg	10	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:119219697T>G	uc003ecn.2	+	2	563	c.350T>G	c.(349-351)TTT>TGT	p.F117C	C3orf1_uc003eco.2_RNA|C3orf1_uc003ecp.2_RNA	NM_016589	NP_057673	Q9NPL8	TIDC1_HUMAN	hypothetical protein LOC51300	117						integral to membrane|mitochondrial inner membrane	protein transporter activity				0				GBM - Glioblastoma multiforme(114;0.186)		CATAACCGGTTTGATGCTGTG	0.413													G	119219697	T	G	119219697	3	3	104	1	0	0	0	0	1	0	0	0	2206	1841	64	5	356	5	C3orf1	3	119219697	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	8439	119219697	78802733	1577	68191											
C3orf15	89876	broad.mit.edu	37	chr3	119459596	119459596	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttaaattttctcccttgatTttatcatcacacagcaccat	3	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:119459596T>G	uc010hqy.1	+	13	1811	c.1734T>G	c.(1732-1734)ATT>ATG	p.I578M	C3orf15_uc003ede.3_Intron|C3orf15_uc010hqz.2_Intron|C3orf15_uc011bjd.1_Intron|C3orf15_uc011bje.1_Intron|C3orf15_uc010hra.1_Missense_Mutation_p.I339M	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	Error:Variant_position_missing_in_Q7Z4T9_after_alignment						mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)		CTCCCTTGATTTTATCATCAC	0.343													G	119459596	T	G	119459596	3	3	104	1	0	0	0	0	1	0	0	0	2209	1856	64	5		5	C3orf15	3	119459596	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	239899	119459596	78562834	1578	68192											
GSK3B	2932	broad.mit.edu	37	chr3	119631622	119631622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtaccgagaacagatatacGaaacattgggttctcctcgg	10	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:119631622G>A	uc003edo.2	-	6	1627	c.644C>T	c.(643-645)TCG>TTG	p.S215L	GSK3B_uc003edn.2_Missense_Mutation_p.S215L	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta isoform 2	215	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			lung(2)	2				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	ACAGATATACGAAACATTGGG	0.348													A	119631622	G	A	119631622	3	1	104	1	0	0	0	0	1	0	0	0	6824	1059	37	1	685	1	GSK3B	3	119631622	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	172026	119631622	78390808	1579	68193											
GSK3B	2932	broad.mit.edu	37	chr3	119720900	119720900	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctggacattttaccttaaatCtcttgtcctgcaatactttc	4	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:119720900C>A	uc003edo.2	-	2	1258	c.275G>T	c.(274-276)AGA>ATA	p.R92I	GSK3B_uc003edn.2_Missense_Mutation_p.R92I	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta isoform 2	92	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			lung(2)	2				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TACCTTAAATCTCTTGTCCTG	0.323													A	119720900	C	A	119720900	3	1	104	1	0	0	0	0	1	0	0	0	6824	913	32	5	1070	5	GSK3B	3	119720900	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	89278	119720900	78301530	1580	68194											
GPR156	165829	broad.mit.edu	37	chr3	119962867	119962867	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tacaattgttgtcttgcagaGatcatgaaggggtctccgat	11	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:119962867G>T	uc011bjf.1	-	1	79	c.79C>A	c.(79-81)CTC>ATC	p.L27I	GPR156_uc011bjg.1_Missense_Mutation_p.L27I	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	27	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.19)		GTCTTGCAGAGATCATGAAGG	0.463													T	119962867	G	T	119962867	3	4	104	1	0	0	0	0	1	0	0	0	6661	942	33	5	2401	5	GPR156	3	119962867	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	241967	119962867	78059563	1581	68195											
LRRC58	116064	broad.mit.edu	37	chr3	120067729	120067729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggttgagcacctggaggCtgcggcagagcggcgactgg	19	9	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:120067729C>T	uc003edr.2	-	1	458	c.362G>A	c.(361-363)AGC>AAC	p.S121N		NM_001099678	NP_001093148	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	121	LRR 4.										0				GBM - Glioblastoma multiforme(114;0.147)		CACCTGGAGGCTGCGGCAGAG	0.701													T	120067729	C	T	120067729	3	4	104	1	0	0	0	0	1	0	0	0	9014	797	28	2	769	2	LRRC58	3	120067729	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	104862	120067729	77954701	1582	68196											
HGD	3081	broad.mit.edu	37	chr3	120389326	120389326	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagtgacttggccttcgTcaatggattcaaagggcttg	13	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:120389326T>C	uc003edw.2	-	4	600	c.230A>G	c.(229-231)GAC>GGC	p.D77G		NM_000187	NP_000178	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	77					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding				0				GBM - Glioblastoma multiforme(114;0.158)		TTGGCCTTCGTCAATGGATTC	0.423													C	120389326	T	C	120389326	3	2	104	1	0	0	0	0	1	0	0	0	7084	1667	58	3	1151	3	HGD	3	120389326	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	321597	120389326	77633104	1583	68197											
GTF2E1	2960	broad.mit.edu	37	chr3	120469443	120469443	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagttccagcagcattgaAgcggttagccaagtatgtga	12	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:120469443A>C	uc003edz.3	+	2	158	c.44A>C	c.(43-45)AAG>ACG	p.K15T	GTF2E1_uc003edy.2_Missense_Mutation_p.K15T	NM_005513	NP_005504	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1,	15	HTH TFE/IIEalpha-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.159)		GCAGCATTGAAGCGGTTAGCC	0.423													C	120469443	A	C	120469443	3	2	104	1	0	0	0	0	1	0	0	0	6856	72	3	5	46	5	GTF2E1	3	120469443	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	80117	120469443	77552987	1584	68198											
STXBP5L	9515	broad.mit.edu	37	chr3	120760555	120760555	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttattatattagactcgggaGacctggtgttgattgctatt	10	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:120760555G>T	uc003eec.3	+	4	436	c.296G>T	c.(295-297)AGA>ATA	p.R99I	STXBP5L_uc011bji.1_Missense_Mutation_p.R99I	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	99	WD 1.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		AGACTCGGGAGACCTGGTGTT	0.338													T	120760555	G	T	120760555	3	4	104	1	0	0	0	0	1	0	0	0	15356	942	33	5	306	5	STXBP5L	3	120760555	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	291112	120760555	77261875	1585	68199											
POLQ	10721	broad.mit.edu	37	chr3	121215700	121215700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaagattgaatctgcccacGattgcatccatatttctgat	6	10	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:121215700G>A	uc003eee.3	-	14	2362	c.2233C>T	c.(2233-2235)CGT>TGT	p.R745C		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	745					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		ATCTGCCCACGATTGCATCCA	0.363								DNA_polymerases_(catalytic_subunits)					A	121215700	G	A	121215700	3	1	104	1	0	0	0	0	1	0	0	0	12208	1058	37	1	5607	1	POLQ	3	121215700	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	455145	121215700	76806730	1586	68200											
POLQ	10721	broad.mit.edu	37	chr3	121238807	121238807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccaccaaaaataggggttCgaataatcacacgacgtgca	9	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:121238807C>T	uc003eee.3	-	9	1508	c.1379G>A	c.(1378-1380)CGA>CAA	p.R460Q		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	460	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		AATAGGGGTTCGAATAATCAC	0.468								DNA_polymerases_(catalytic_subunits)					T	121238807	C	T	121238807	3	4	104	1	0	0	0	0	1	0	0	0	12208	884	31	1	6481	1	POLQ	3	121238807	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	23107	121238807	76783623	1587	68201											
POLQ	10721	broad.mit.edu	37	chr3	121258410	121258410	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccatataaccgtctacTtttattcctacttcctgaaa	3	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:121258410T>C	uc003eee.3	-	4	630	c.501A>G	c.(499-501)AAA>AAG	p.K167K		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	167	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		AACCGTCTACTTTTATTCCTA	0.398								DNA_polymerases_(catalytic_subunits)					C	121258410	T	C	121258410	2	2	104	1	0	0	0	0	0	0	0	1	12208	1606	56	3		3	POLQ	3	121258410	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	19603	121258410	76764020	1588	68202											
FBXO40	51725	broad.mit.edu	37	chr3	121340587	121340587	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtggaaccgctggccaaAtgtggactctgaaaccaccc	12	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:121340587A>G	uc003eeg.2	+	3	521	c.311A>G	c.(310-312)AAT>AGT	p.N104S		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	104	TRAF-type.				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)		CGCTGGCCAAATGTGGACTCT	0.592													G	121340587	A	G	121340587	3	3	104	1	0	0	0	0	1	0	0	0	5749	101	4	3	317	3	FBXO40	3	121340587	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	82177	121340587	76681843	1589	68203											
FBXO40	51725	broad.mit.edu	37	chr3	121341621	121341621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgctggctgacctaaccGctgccaccccagggggactc	12	16	0	1	rs143267823		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:121341621G>A	uc003eeg.2	+	3	1555	c.1345G>A	c.(1345-1347)GCT>ACT	p.A449T		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	449					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)		TGACCTAACCGCTGCCACCCC	0.507													A	121341621	G	A	121341621	3	1	104	1	0	0	0	0	1	0	0	0	5749	1087	38	1	1351	1	FBXO40	3	121341621	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1034	121341621	76680809	1590	68204											
HCLS1	3059	broad.mit.edu	37	chr3	121351279	121351279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgtccatctcctcaacGtcctcatagtcattctcagg	6	15	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:121351279G>A	uc003eeh.3	-	12	1265	c.1140C>T	c.(1138-1140)GAC>GAT	p.D380D	HCLS1_uc011bjj.1_Silent_p.D343D|HCLS1_uc011bjk.1_RNA	NM_005335	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	380					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(114;0.0912)		TCTCCTCAACGTCCTCATAGT	0.433													A	121351279	G	A	121351279	2	1	104	1	0	0	0	0	0	0	0	1	6995	1136	40	1		1	HCLS1	3	121351279	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	9658	121351279	76671151	1591	68205											
HCLS1	3059	broad.mit.edu	37	chr3	121354598	121354598	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaccggcttctatgggcgtCgtcttcttataagctgtggt	11	10	4	0	rs149333073	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:121354598C>T	uc003eeh.3	-	9	800	c.675G>A	c.(673-675)ACG>ACA	p.T225T	HCLS1_uc011bjj.1_Silent_p.T188T|HCLS1_uc011bjk.1_RNA	NM_005335	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	225					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(114;0.0912)		CTATGGGCGTCGTCTTCTTAT	0.537													T	121354598	C	T	121354598	2	4	104	1	0	0	0	0	0	0	0	1	6995	871	31	1		1	HCLS1	3	121354598	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3319	121354598	76667832	1592	68206											
GOLGB1	2804	broad.mit.edu	37	chr3	121416180	121416180	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtctgttttaaataaatttCtatttcttggcacttagaag	6	5	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:121416180C>A	uc003eei.3	-	13	3301	c.3175G>T	c.(3175-3177)GAA>TAA	p.E1059*	GOLGB1_uc010hrc.2_Nonsense_Mutation_p.E1064*|GOLGB1_uc003eej.3_Nonsense_Mutation_p.E1025*|GOLGB1_uc011bjm.1_Nonsense_Mutation_p.E945*|GOLGB1_uc010hrd.1_Nonsense_Mutation_p.E1023*	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	1059	Cytoplasmic (Potential).				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		AAATAAATTTCTATTTCTTGG	0.378													A	121416180	C	A	121416180	4	1	104	1	0	0	0	0	0	1	0	0	6565	922	32	5	6644	5	GOLGB1	3	121416180	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	61582	121416180	76606250	1593	68207											
GOLGB1	2804	broad.mit.edu	37	chr3	121417443	121417443	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgttcagtgctcgcctgttCtttttcaactgctggaagac	9	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:121417443C>A	uc003eei.3	-	13	2038	c.1912G>T	c.(1912-1914)GAA>TAA	p.E638*	GOLGB1_uc010hrc.2_Nonsense_Mutation_p.E643*|GOLGB1_uc003eej.3_Nonsense_Mutation_p.E604*|GOLGB1_uc011bjm.1_Nonsense_Mutation_p.E524*|GOLGB1_uc010hrd.1_Nonsense_Mutation_p.E602*	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	638	Cytoplasmic (Potential).				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		CTCGCCTGTTCTTTTTCAACT	0.373													A	121417443	C	A	121417443	4	1	104	1	0	0	0	0	0	1	0	0	6565	922	32	5	7907	5	GOLGB1	3	121417443	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1263	121417443	76604987	1594	68208											
GOLGB1	2804	broad.mit.edu	37	chr3	121417683	121417683	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caacaataaaactgataattCtttatgtttctgagaaaatg	5	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:121417683C>T	uc003eei.3	-	13	1798	c.1672G>A	c.(1672-1674)GAA>AAA	p.E558K	GOLGB1_uc010hrc.2_Missense_Mutation_p.E563K|GOLGB1_uc003eej.3_Missense_Mutation_p.E524K|GOLGB1_uc011bjm.1_Missense_Mutation_p.E444K|GOLGB1_uc010hrd.1_Missense_Mutation_p.E522K	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	558	Potential.|Cytoplasmic (Potential).				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		ACTGATAATTCTTTATGTTTC	0.363													T	121417683	C	T	121417683	3	4	104	1	0	0	0	0	1	0	0	0	6565	922	32	4	8147	4	GOLGB1	3	121417683	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	240	121417683	76604747	1595	68209											
CASR	846	broad.mit.edu	37	chr3	121980561	121980561	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccggggattgagaaattcCgagaggaagctgaggaaagg	18	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:121980561C>T	uc003eev.3	+	4	1051	c.679C>T	c.(679-681)CGA>TGA	p.R227*	CASR_uc003eew.3_Nonsense_Mutation_p.R227*	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	227	Extracellular (Potential).		R -> Q (in FHH; impaired in their MAPK response to increasing extracellular calcium concentrations; less markedly impaired relative to wild-type then Leu- 227; when cotransfected with wild-type the curve is right-shifted intermediate to the curve for wild-type).		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGAGAAATTCCGAGAGGAAGC	0.522													T	121980561	C	T	121980561	4	4	104	1	0	0	0	0	0	1	0	0	2682	644	23	1	689	1	CASR	3	121980561	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	562878	121980561	76041869	1596	68210											
PARP15	165631	broad.mit.edu	37	chr3	122335919	122335919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgaaatgaaaatcggtgCaattacttttcaggttgcta	8	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:122335919C>T	uc003efm.2	+	6	974	c.908C>T	c.(907-909)GCA>GTA	p.A303V	PARP15_uc003efn.2_Intron|PARP15_uc003efo.1_Missense_Mutation_p.A50V|PARP15_uc003efp.1_Missense_Mutation_p.A69V|PARP15_uc011bjt.1_Missense_Mutation_p.A69V	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	281	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5				GBM - Glioblastoma multiforme(114;0.0531)		AAAATCGGTGCAATTACTTTT	0.398													T	122335919	C	T	122335919	3	4	104	1	0	0	0	0	1	0	0	0	11459	710	25	2	999	2	PARP15	3	122335919	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	355358	122335919	75686511	1597	68211											
PARP15	165631	broad.mit.edu	37	chr3	122340311	122340311	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacagcctcacagagatTttataattacaccaggtgga	8	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:122340311T>G	uc003efm.2	+	8	1150	c.1084T>G	c.(1084-1086)TTT>GTT	p.F362V	PARP15_uc003efn.2_Missense_Mutation_p.F236V|PARP15_uc003efo.1_Missense_Mutation_p.F109V|PARP15_uc003efp.1_Missense_Mutation_p.F128V|PARP15_uc011bjt.1_Missense_Mutation_p.F128V	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	340	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5				GBM - Glioblastoma multiforme(114;0.0531)		TCACAGAGATTTTATAATTAC	0.378													G	122340311	T	G	122340311	3	3	104	1	0	0	0	0	1	0	0	0	11459	1841	64	5	1183	5	PARP15	3	122340311	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	4392	122340311	75682119	1598	68212											
PARP15	165631	broad.mit.edu	37	chr3	122345735	122345735	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcgatgctattgtagacttCtcatcacaacattccacccc	4	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:122345735C>A	uc003efm.2	+	9	1359	c.1293C>A	c.(1291-1293)TTC>TTA	p.F431L	PARP15_uc003efn.2_Intron|PARP15_uc003efo.1_Missense_Mutation_p.F178L|PARP15_uc003efp.1_Missense_Mutation_p.F197L|PARP15_uc011bjt.1_Intron	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	409	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5				GBM - Glioblastoma multiforme(114;0.0531)		TTGTAGACTTCTCATCACAAC	0.353													A	122345735	C	A	122345735	3	1	104	1	0	0	0	0	1	0	0	0	11459	912	32	5	1396	5	PARP15	3	122345735	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5424	122345735	75676695	1599	68213											
PARP14	54625	broad.mit.edu	37	chr3	122418266	122418266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatcatggccacaaaactcGacttcaataaaatgccactt	4	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:122418266G>A	uc003efq.3	+	6	924	c.865G>A	c.(865-867)GAC>AAC	p.D289N	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.D6N|PARP14_uc003efs.1_Missense_Mutation_p.D6N	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		CACAAAACTCGACTTCAATAA	0.383													A	122418266	G	A	122418266	3	1	104	1	0	0	0	0	1	0	0	0	11458	1058	37	1	887	1	PARP14	3	122418266	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	72531	122418266	75604164	1600	68214											
DIRC2	84925	broad.mit.edu	37	chr3	122564623	122564623	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagcaattttcgatttTtgatgattgctttagcatat	6	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:122564623T>G	uc003efw.3	+	5	986	c.847T>G	c.(847-849)TTG>GTG	p.L283V	DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Missense_Mutation_p.L121V	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	283	Helical; (Potential).				transport	integral to membrane					0				GBM - Glioblastoma multiforme(114;0.0614)		TTTTCGATTTTTGATGATTGC	0.343													G	122564623	T	G	122564623	3	3	104	1	0	0	0	0	1	0	0	0	4534	1838	64	5	865	5	DIRC2	3	122564623	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	146357	122564623	75457807	1601	68215											
SEMA5B	54437	broad.mit.edu	37	chr3	122630371	122630371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcctccatgctggaggCtggcaggatgactgcaggaa	15	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:122630371C>T	uc003efz.1	-	21	3362	c.3058G>A	c.(3058-3060)GCC>ACC	p.A1020T	SEMA5B_uc011bju.1_Missense_Mutation_p.A926T|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.A1020T|SEMA5B_uc003efy.1_5'UTR	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	1020	Extracellular (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		ATGCTGGAGGCTGGCAGGATG	0.637													T	122630371	C	T	122630371	3	4	104	1	0	0	0	0	1	0	0	0	14038	797	28	2	409	2	SEMA5B	3	122630371	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	65748	122630371	75392059	1602	68216											
SEMA5B	54437	broad.mit.edu	37	chr3	122632771	122632771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcagggttgctgcaacttCgctggcggacctggaagccg	16	11	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:122632771C>T	uc003efz.1	-	15	2370	c.2066G>A	c.(2065-2067)CGA>CAA	p.R689Q	SEMA5B_uc011bju.1_Missense_Mutation_p.R631Q|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R689Q|SEMA5B_uc010hro.1_Missense_Mutation_p.R631Q|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	689	Extracellular (Potential).|TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		GCTGCAACTTCGCTGGCGGAC	0.682													T	122632771	C	T	122632771	3	4	104	1	0	0	0	0	1	0	0	0	14038	884	31	1	1425	1	SEMA5B	3	122632771	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2400	122632771	75389659	1603	68217											
PTPLB	201562	broad.mit.edu	37	chr3	123219414	123219414	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatgcatagtagtcaaaagaGaaattgtatttgttgggtaa	10	2	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:123219414G>T	uc003egj.2	-	6	680	c.630C>A	c.(628-630)TTC>TTA	p.F210L		NM_198402	NP_940684	Q6Y1H2	HACD2_HUMAN	protein tyrosine phosphatase-like (proline	210	Lumenal (Potential).				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein binding			kidney(1)	1				GBM - Glioblastoma multiforme(114;0.1)		AGTCAAAAGAGAAATTGTATT	0.358													T	123219414	G	T	123219414	3	4	104	1	0	0	0	0	1	0	0	0	12777	933	33	5	142	5	PTPLB	3	123219414	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	586643	123219414	74803016	1604	68218											
MYLK	4638	broad.mit.edu	37	chr3	123385191	123385191	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgatctgagggggcaTtgctgagggaggacagggag	20	5	1	3	rs113124819	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:123385191T>G	uc003ego.2	-	22	3988	c.3706A>C	c.(3706-3708)ATG>CTG	p.M1236L	MYLK_uc010hrr.2_5'Flank|MYLK_uc011bjv.1_Missense_Mutation_p.M36L|MYLK_uc011bjw.1_Missense_Mutation_p.M1236L|MYLK_uc003egp.2_Missense_Mutation_p.M1167L|MYLK_uc003egq.2_Missense_Mutation_p.M1236L|MYLK_uc003egr.2_Missense_Mutation_p.M1167L|MYLK_uc003egs.2_Missense_Mutation_p.M1060L	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1236	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGAGGGGGCATTGCTGAGGGA	0.562													G	123385191	T	G	123385191	3	3	104	1	0	0	0	0	1	0	0	0	10056	1493	52	5	2090	5	MYLK	3	123385191	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	165777	123385191	74637239	1605	68219											
MYLK	4638	broad.mit.edu	37	chr3	123419348	123419348	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccattctctgctggtaatttCttcttgccacccagcactga	6	14	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:123419348C>A	uc003ego.2	-	18	3249	c.2967G>T	c.(2965-2967)AAG>AAT	p.K989N	MYLK_uc011bjw.1_Missense_Mutation_p.K989N|MYLK_uc003egp.2_Missense_Mutation_p.K920N|MYLK_uc003egq.2_Missense_Mutation_p.K989N|MYLK_uc003egr.2_Missense_Mutation_p.K920N|MYLK_uc003egs.2_Missense_Mutation_p.K813N|MYLK_uc003egt.2_Missense_Mutation_p.K180N	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	989	1-5; truncated.|5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTGGTAATTTCTTCTTGCCAC	0.592													A	123419348	C	A	123419348	3	1	104	1	0	0	0	0	1	0	0	0	10056	912	32	5	2845	5	MYLK	3	123419348	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	34157	123419348	74603082	1606	68220											
MYLK	4638	broad.mit.edu	37	chr3	123427629	123427629	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcccgtgtcctccgggaAcacttcctggatacaaaggc	11	14	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:123427629A>G	uc003ego.2	-	15	2338	c.2056T>C	c.(2056-2058)TTC>CTC	p.F686L	MYLK_uc011bjw.1_Missense_Mutation_p.F686L|MYLK_uc003egp.2_Missense_Mutation_p.F617L|MYLK_uc003egq.2_Missense_Mutation_p.F686L|MYLK_uc003egr.2_Missense_Mutation_p.F617L|MYLK_uc003egs.2_Missense_Mutation_p.F510L	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	686	Ig-like C2-type 5.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCCTCCGGGAACACTTCCTGG	0.572													G	123427629	A	G	123427629	3	3	104	1	0	0	0	0	1	0	0	0	10056	43	2	3	3768	3	MYLK	3	123427629	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	8281	123427629	74594801	1607	68221											
KALRN	8997	broad.mit.edu	37	chr3	124420922	124420922	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaccatttcttggaaggaAaattttgactcagcttacac	7	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:124420922A>C	uc003ehg.2	+	57	8161	c.8034A>C	c.(8032-8034)GAA>GAC	p.E2678D	KALRN_uc003ehk.2_Missense_Mutation_p.E981D	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2677					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						CTTGGAAGGAAAATTTTGACT	0.363													C	124420922	A	C	124420922	3	2	104	1	0	0	0	0	1	0	0	0	7975	11	1	5	8416	5	KALRN	3	124420922	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	993293	124420922	73601508	1608	68222											
UMPS	7372	broad.mit.edu	37	chr3	124462839	124462839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgatatcatcattgtaggtCgtggcataatctcagcagct	9	10	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:124462839C>T	uc003ehl.3	+	6	1457	c.1351C>T	c.(1351-1353)CGT>TGT	p.R451C	UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Missense_Mutation_p.R273C|UMPS_uc011bkb.1_Missense_Mutation_p.R359C|UMPS_uc011bkc.1_Missense_Mutation_p.R273C|UMPS_uc003ehn.3_Missense_Mutation_p.R273C|UMPS_uc011bkd.1_Missense_Mutation_p.R176C	NM_000373	NP_000364	P11172	UMPS_HUMAN	uridine monophosphate synthase	451	OMPdecase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			kidney(1)	1				GBM - Glioblastoma multiforme(114;0.146)		CATTGTAGGTCGTGGCATAAT	0.433													T	124462839	C	T	124462839	3	4	104	1	0	0	0	0	1	0	0	0	16978	884	31	1	1373	1	UMPS	3	124462839	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	41917	124462839	73559591	1609	68223											
HEG1	57493	broad.mit.edu	37	chr3	124739858	124739858	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagactgaccgtcaaagatcGcagcgttctcgggccaccat	10	14	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:124739858G>A	uc003ehs.3	-	4	1098	c.1030C>T	c.(1030-1032)CGA>TGA	p.R344*	HEG1_uc011bke.1_Nonsense_Mutation_p.R344*	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	344	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						GTCAAAGATCGCAGCGTTCTC	0.532													A	124739858	G	A	124739858	4	1	104	1	0	0	0	0	0	1	0	0	7044	1095	38	1	3171	1	HEG1	3	124739858	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	277019	124739858	73282572	1610	68224											
ZXDC	79364	broad.mit.edu	37	chr3	126189737	126189737	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcaatgttttaaaatctaCcttccacaggacactcgaac	5	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:126189737C>T	uc003eiv.2	-	4	1324	c.1270_splice	c.e4+1	p.G424_splice	ZXDC_uc010hsh.2_Splice_Site|ZXDC_uc003eix.2_Splice_Site_p.G424_splice	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C isoform 1						positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.155)		TTAAAATCTACCTTCCACAGG	0.438													T	126189737	C	T	126189737	5	4	104	1	0	0	0	0	0	0	1	0	18249	521	18	4	1339	4	ZXDC	3	126189737	Splice_Site	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1449879	126189737	71832693	1611	68225											
PLXNA1	5361	broad.mit.edu	37	chr3	126751319	126751319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcacggacgcctgcttgtCggtggtggcccagaccttca	12	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:126751319C>T	uc003ejg.2	+	29	5256	c.5252C>T	c.(5251-5253)TCG>TTG	p.S1751L	PLXNA1_uc003ejh.2_Missense_Mutation_p.S419L	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1774	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		GCCTGCTTGTCGGTGGTGGCC	0.587													T	126751319	C	T	126751319	3	4	104	1	0	0	0	0	1	0	0	0	12119	893	31	1	5435	1	PLXNA1	3	126751319	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	561582	126751319	71271111	1612	68226											
PODXL2	50512	broad.mit.edu	37	chr3	127379708	127379708	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagggcttggggtagagttCgaggctcctcaggaagcaag	17	8	1	1	rs114235935	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:127379708C>T	uc003ejq.2	+	3	861	c.837C>T	c.(835-837)TTC>TTT	p.F279F		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2 precursor	279	Extracellular (Potential).				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			ovary(1)|central_nervous_system(1)	2						GGGTAGAGTTCGAGGCTCCTC	0.617													T	127379708	C	T	127379708	2	4	104	1	0	0	0	0	0	0	0	1	12181	883	31	1		1	PODXL2	3	127379708	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	628389	127379708	70642722	1613	68227											
MGLL	11343	broad.mit.edu	37	chr3	127500727	127500727	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctccggctccatgggacacaAagatgagggccctgcagaga	13	12	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:127500727A>T	uc003ejx.2	-	3	282	c.137T>A	c.(136-138)TTT>TAT	p.F46Y	MGLL_uc003ejw.2_Missense_Mutation_p.F56Y|MGLL_uc011bko.1_Missense_Mutation_p.F56Y|MGLL_uc010hsp.1_Missense_Mutation_p.F46Y	NM_001003794	NP_001003794	Q99685	MGLL_HUMAN	monoglyceride lipase isoform 2	46					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity				0						ATGGGACACAAAGATGAGGGC	0.473													T	127500727	A	T	127500727	3	4	104	1	0	0	0	0	1	0	0	0	9556	14	1	5	798	5	MGLL	3	127500727	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	121019	127500727	70521703	1614	68228											
RUVBL1	8607	broad.mit.edu	37	chr3	127823693	127823693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgccatatcctcccatggGattctctgtctcacacggag	8	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:127823693G>A	uc003ekh.2	-	4	540	c.436C>T	c.(436-438)CCC>TCC	p.P146S	RUVBL1_uc003ekf.2_Missense_Mutation_p.P86S|RUVBL1_uc010hss.2_Missense_Mutation_p.P146S	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	146					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		CCTCCCATGGGATTCTCTGTC	0.348													A	127823693	G	A	127823693	3	1	104	1	0	0	0	0	1	0	0	0	13752	1174	41	4	966	4	RUVBL1	3	127823693	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	322966	127823693	70198737	1615	68229											
RPN1	6184	broad.mit.edu	37	chr3	128339383	128339383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgctcagcctccaccgcCgacttcagcaccagctcctt	8	19	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:128339383C>T	uc003ekr.1	-	10	1771	c.1695G>A	c.(1693-1695)TCG>TCA	p.S565S	RPN1_uc011bkq.1_Silent_p.S393S	NM_002950	NP_002941	P04843	RPN1_HUMAN	ribophorin I precursor	565	Cytoplasmic (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(114;0.189)		CCTCCACCGCCGACTTCAGCA	0.587			T	EVI1	AML								T	128339383	C	T	128339383	2	4	104	1	0	0	0	0	0	0	0	1	13607	639	23	1		1	RPN1	3	128339383	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	515690	128339383	69683047	1616	68230											
RAB7A	7879	broad.mit.edu	37	chr3	128525422	128525422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggaaacaagattgacctcGaaaacagacaagtaagtacc	9	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:128525422G>A	uc003eks.1	+	4	620	c.388G>A	c.(388-390)GAA>AAA	p.E130K	RAB7A_uc010hsv.1_Intron|RAB7A_uc003ekt.2_Missense_Mutation_p.E106K	NM_004637	NP_004628	P51149	RAB7A_HUMAN	RAB7, member RAS oncogene family	130					endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding				0				GBM - Glioblastoma multiforme(114;0.231)		GATTGACCTCGAAAACAGACA	0.473													A	128525422	G	A	128525422	3	1	104	1	0	0	0	0	1	0	0	0	12954	1059	37	1	398	1	RAB7A	3	128525422	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	186039	128525422	69497008	1617	68231											
KIAA1257	57501	broad.mit.edu	37	chr3	128706483	128706483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttatgaaaagctcccacgtCgtctgtgaagccggcagtct	10	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:128706483C>T	uc003elj.3	-	4	839	c.643G>A	c.(643-645)GAC>AAC	p.D215N	KIAA1257_uc003elg.1_Missense_Mutation_p.D215N|KIAA1257_uc003eli.3_Missense_Mutation_p.D103N	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	hypothetical protein LOC57501	215											0						GCTCCCACGTCGTCTGTGAAG	0.423													T	128706483	C	T	128706483	3	4	104	1	0	0	0	0	1	0	0	0	8218	884	31	1	606	1	KIAA1257	3	128706483	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	181061	128706483	69315947	1618	68232											
C3orf37	56941	broad.mit.edu	37	chr3	129009603	129009603	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcagggaacaaaccagAggcagccatacttcatctat	9	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:129009603A>G	uc003elt.2	+	4	497	c.409A>G	c.(409-411)AGG>GGG	p.R137G	C3orf37_uc003elu.2_Intron|C3orf37_uc003elv.2_Missense_Mutation_p.R137G|C3orf37_uc003elw.2_Missense_Mutation_p.R137G	NM_020187	NP_064572	Q96FZ2	CC037_HUMAN	hypothetical protein LOC56941	137										ovary(1)	1						AACAAACCAGAGGCAGCCATA	0.428													G	129009603	A	G	129009603	3	3	104	1	0	0	0	0	1	0	0	0	2227	295	11	3	419	3	C3orf37	3	129009603	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	303120	129009603	69012827	1619	68233											
MBD4	8930	broad.mit.edu	37	chr3	129155520	129155520	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttttttgttcagaacaaaAatttgatcctgaactcaatg	6	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:129155520A>C	uc003emh.1	-	3	1143	c.967T>G	c.(967-969)TTT>GTT	p.F323V	MBD4_uc003emi.1_Missense_Mutation_p.F323V|MBD4_uc003emj.1_Missense_Mutation_p.F323V|MBD4_uc003emk.1_Intron|MBD4_uc011bkw.1_Missense_Mutation_p.F323V	NM_003925	NP_003916	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	323					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			ovary(1)|lung(1)	2						TCAGAACAAAAATTTGATCCT	0.368								BER_DNA_glycosylases					C	129155520	A	C	129155520	3	2	104	1	0	0	0	0	1	0	0	0	9346	14	1	5	799	5	MBD4	3	129155520	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	145917	129155520	68866910	1620	68234											
RHO	6010	broad.mit.edu	37	chr3	129247781	129247781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtccagcacaagaagctgCgcacgcctctcaactacatc	7	17	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:129247781C>T	uc003emt.2	+	1	300	c.205C>T	c.(205-207)CGC>TGC	p.R69C		NM_000539	NP_000530	P08100	OPSD_HUMAN	rhodopsin	69	Cytoplasmic.		Missing (in RP4).		protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding				0		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CAAGAAGCTGCGCACGCCTCT	0.567													T	129247781	C	T	129247781	3	4	104	1	0	0	0	0	1	0	0	0	13330	768	27	1	207	1	RHO	3	129247781	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	92261	129247781	68774649	1621	68235											
PLXND1	23129	broad.mit.edu	37	chr3	129277299	129277299	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgcaggtcagagatggagCaggcgtcgatgaaggcctgc	17	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:129277299C>A	uc003emx.2	-	33	5517	c.5417G>T	c.(5416-5418)TGC>TTC	p.C1806F	PLXND1_uc003emw.2_5'UTR|PLXND1_uc011blb.1_Missense_Mutation_p.C475F	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1806	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						AGAGATGGAGCAGGCGTCGAT	0.602													A	129277299	C	A	129277299	3	1	104	1	0	0	0	0	1	0	0	0	12127	710	25	5	376	5	PLXND1	3	129277299	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	29518	129277299	68745131	1622	68236											
PLXND1	23129	broad.mit.edu	37	chr3	129277343	129277343	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgactgaaaggcaggcgtcGatgtggtctgtcttgtcgat	14	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:129277343G>A	uc003emx.2	-	33	5473	c.5373C>T	c.(5371-5373)ATC>ATT	p.I1791I	PLXND1_uc003emw.2_5'UTR|PLXND1_uc011blb.1_Silent_p.I460I	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1791	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						GGCAGGCGTCGATGTGGTCTG	0.582													A	129277343	G	A	129277343	2	1	104	1	0	0	0	0	0	0	0	1	12127	1048	37	1		1	PLXND1	3	129277343	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	44	129277343	68745087	1623	68237											
PLXND1	23129	broad.mit.edu	37	chr3	129302495	129302495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaacagggccactgtgccGacaggcagctggtacagctg	14	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:129302495G>A	uc003emx.2	-	8	2256	c.2156C>T	c.(2155-2157)TCG>TTG	p.S719L		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	719	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						CCACTGTGCCGACAGGCAGCT	0.582													A	129302495	G	A	129302495	3	1	104	1	0	0	0	0	1	0	0	0	12127	1059	37	1	3737	1	PLXND1	3	129302495	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	25152	129302495	68719935	1624	68238											
COL6A6	131873	broad.mit.edu	37	chr3	130284283	130284283	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccctgggcatagagggCgccagcgacacccagttgga	13	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:130284283C>T	uc010htl.2	+	3	1138	c.1107C>T	c.(1105-1107)GGC>GGT	p.G369G		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	369	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GCATAGAGGGCGCCAGCGACA	0.557													T	130284283	C	T	130284283	2	4	104	1	0	0	0	0	0	0	0	1	3703	755	27	1		1	COL6A6	3	130284283	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	981788	130284283	67738147	1625	68239											
COL6A6	131873	broad.mit.edu	37	chr3	130290173	130290173	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtacttcttcgtggagacTtttggaggtctgaagggaat	13	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:130290173T>G	uc010htl.2	+	6	2944	c.2913T>G	c.(2911-2913)ACT>ACG	p.T971T		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	971	VWFA 5.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						TCGTGGAGACTTTTGGAGGTC	0.448													G	130290173	T	G	130290173	2	3	104	1	0	0	0	0	0	0	0	1	3703	1596	56	5		5	COL6A6	3	130290173	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	5890	130290173	67732257	1626	68240											
COL6A6	131873	broad.mit.edu	37	chr3	130305384	130305384	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataactgttgctctggatggAcctgctgattcaagtgactt	10	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:130305384A>G	uc010htl.2	+	10	4036	c.4005A>G	c.(4003-4005)GGA>GGG	p.G1335G	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1335	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						CTCTGGATGGACCTGCTGATT	0.433													G	130305384	A	G	130305384	2	3	104	1	0	0	0	0	0	0	0	1	3703	262	10	3		3	COL6A6	3	130305384	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	15211	130305384	67717046	1627	68241											
COL6A6	131873	broad.mit.edu	37	chr3	130361855	130361855	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagctcattcagtatgtgCgagaccgcagtcgtaagtac	12	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:130361855C>T	uc010htl.2	+	30	5246	c.5215C>T	c.(5215-5217)CGA>TGA	p.R1739*	COL6A6_uc003eni.3_Silent_p.C2C	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1739	Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						TCAGTATGTGCGAGACCGCAG	0.383													T	130361855	C	T	130361855	4	4	104	1	0	0	0	0	0	1	0	0	3703	760	27	1	5333	1	COL6A6	3	130361855	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	56471	130361855	67660575	1628	68242											
COL6A6	131873	broad.mit.edu	37	chr3	130368016	130368016	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggatgaaggagatgatggcTttcctggtgagagacattaa	14	5	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:130368016T>G	uc010htl.2	+	32	5374	c.5343T>G	c.(5341-5343)GCT>GCG	p.A1781A	COL6A6_uc003eni.3_Intron	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1781	VWFA 8.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						AGATGATGGCTTTCCTGGTGA	0.582													G	130368016	T	G	130368016	2	3	104	1	0	0	0	0	0	0	0	1	3703	1596	56	5		5	COL6A6	3	130368016	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	6161	130368016	67654414	1629	68243											
PIK3R4	30849	broad.mit.edu	37	chr3	130442276	130442276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accaatatcactggcaaattCgtaaacatggggtttttgta	8	7	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:130442276C>T	uc003enj.2	-	7	2544	c.1963G>A	c.(1963-1965)GAA>AAA	p.E655K		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	655					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						CTGGCAAATTCGTAAACATGG	0.338													T	130442276	C	T	130442276	3	4	104	1	0	0	0	0	1	0	0	0	11921	893	31	1	2169	1	PIK3R4	3	130442276	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	74260	130442276	67580154	1630	68244											
PIK3R4	30849	broad.mit.edu	37	chr3	130463973	130463973	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccgagtactccccaggctTttatcatattcaaagtcatg	6	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:130463973T>G	uc003enj.2	-	2	671	c.90A>C	c.(88-90)AAA>AAC	p.K30N		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	30	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						TCCCCAGGCTTTTATCATATT	0.443													G	130463973	T	G	130463973	3	3	104	1	0	0	0	0	1	0	0	0	11921	1838	64	5	4062	5	PIK3R4	3	130463973	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	21697	130463973	67558457	1631	68245											
ASTE1	28990	broad.mit.edu	37	chr3	130743446	130743446	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggaagacgcgctttacttaaGaatgtctccatgatgggtag	12	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:130743446G>T	uc003env.1	-	3	1147	c.705C>A	c.(703-705)TTC>TTA	p.F235L	NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Missense_Mutation_p.F235L|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	235					DNA repair		nuclease activity				0						CTTTACTTAAGAATGTCTCCA	0.448													T	130743446	G	T	130743446	3	4	104	1	0	0	0	0	1	0	0	0	1062	933	33	5	1350	5	ASTE1	3	130743446	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	279473	130743446	67278984	1632	68246											
DNAJC13	23317	broad.mit.edu	37	chr3	132172174	132172174	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagagcaaagagaagagatTattaaaagtgcaatagacca	9	5	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:132172174T>C	uc003eor.2	+	7	635	c.570T>C	c.(568-570)ATT>ATC	p.I190I	DNAJC13_uc010htq.1_Silent_p.I190I|DNAJC13_uc003eos.1_5'Flank	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	190							heat shock protein binding			ovary(1)|breast(1)	2						GAGAAGAGATTATTAAAAGTG	0.348													C	132172174	T	C	132172174	2	2	104	1	0	0	0	0	0	0	0	1	4632	1742	61	3		3	DNAJC13	3	132172174	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1428728	132172174	65850256	1633	68247											
DNAJC13	23317	broad.mit.edu	37	chr3	132241676	132241676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaacttcctcgtataggttcGaattacgttaatgaaatttc	6	7	0	1	rs139626514		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:132241676G>A	uc003eor.2	+	49	5743	c.5678G>A	c.(5677-5679)CGA>CAA	p.R1893Q		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1893							heat shock protein binding			ovary(1)|breast(1)	2						GTATAGGTTCGAATTACGTTA	0.323													A	132241676	G	A	132241676	3	1	104	1	0	0	0	0	1	0	0	0	4632	1058	37	1	5868	1	DNAJC13	3	132241676	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	69502	132241676	65780754	1634	68248											
CCRL1	51554	broad.mit.edu	37	chr3	132320115	132320115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaagtcacagaaagcatcGcactctttcacagctgcctc	6	15	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:132320115G>A	uc003eow.2	+	2	957	c.874G>A	c.(874-876)GCA>ACA	p.A292T	ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Missense_Mutation_p.A292T	NM_016557	NP_057641	Q9NPB9	CCRL1_HUMAN	chemokine (C-C motif) receptor-like 1	292	Helical; Name=7; (Potential).				chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity				0						AGAAAGCATCGCACTCTTTCA	0.463													A	132320115	G	A	132320115	3	1	104	1	0	0	0	0	1	0	0	0	2949	1087	38	1	876	1	CCRL1	3	132320115	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	78439	132320115	65702315	1635	68249											
NPHP3	27031	broad.mit.edu	37	chr3	132401613	132401613	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgacccaggctatcttcaTaaatctttaatgctctttca	4	12	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:132401613T>C	uc003epe.1	-	26	3823	c.3746A>G	c.(3745-3747)TAT>TGT	p.Y1249C	NPHP3_uc003eoz.1_Missense_Mutation_p.Y128C|NPHP3_uc003epd.1_Missense_Mutation_p.Y491C	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	1249	TPR 10.				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1						GCTATCTTCATAAATCTTTAA	0.343													C	132401613	T	C	132401613	3	2	104	1	0	0	0	0	1	0	0	0	10580	1406	49	3	254	3	NPHP3	3	132401613	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	81498	132401613	65620817	1636	68250											
NPHP3	27031	broad.mit.edu	37	chr3	132403524	132403524	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgctttatcatactgtttCttttcattgcatagagctgc	6	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:132403524C>T	uc003epe.1	-	24	3521	c.3444G>A	c.(3442-3444)AAG>AAA	p.K1148K	NPHP3_uc003eoz.1_Silent_p.K27K|NPHP3_uc003epd.1_Silent_p.K390K	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	1148	TPR 8.				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1						CATACTGTTTCTTTTCATTGC	0.428													T	132403524	C	T	132403524	2	4	104	1	0	0	0	0	0	0	0	1	10580	912	32	4		4	NPHP3	3	132403524	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1911	132403524	65618906	1637	68251											
NPHP3	27031	broad.mit.edu	37	chr3	132415633	132415633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attgcaggttgtagcagaacGacagtgtcgttctagcttct	11	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:132415633G>A	uc003epe.1	-	15	2190	c.2113C>T	c.(2113-2115)CGT>TGT	p.R705C	NPHP3_uc003epd.1_Intron	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	705					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1						GTAGCAGAACGACAGTGTCGT	0.433													A	132415633	G	A	132415633	3	1	104	1	0	0	0	0	1	0	0	0	10580	1058	37	1	1931	1	NPHP3	3	132415633	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	12109	132415633	65606797	1638	68252											
NPHP3	27031	broad.mit.edu	37	chr3	132437924	132437924	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgtagcctctgaagtttgCtctccaactccctcttggcc	7	16	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:132437924C>A	uc003epe.1	-	3	661	c.584G>T	c.(583-585)AGC>ATC	p.S195I	NPHP3_uc003epf.1_5'UTR	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	195	Potential.				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1						CTGAAGTTTGCTCTCCAACTC	0.393													A	132437924	C	A	132437924	3	1	104	1	0	0	0	0	1	0	0	0	10580	797	28	5	3508	5	NPHP3	3	132437924	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	22291	132437924	65584506	1639	68253											
BFSP2	8419	broad.mit.edu	37	chr3	133185754	133185754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggagttacacaacacttCgtgccaagtccagagcctcc	10	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:133185754C>T	uc003epn.1	+	5	1112	c.974C>T	c.(973-975)TCG>TTG	p.S325L		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	phakinin	325	Rod.|Potential.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens				0						CACAACACTTCGTGCCAAGTC	0.562													T	133185754	C	T	133185754	3	4	104	1	0	0	0	0	1	0	0	0	1416	893	31	1	992	1	BFSP2	3	133185754	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	747830	133185754	64836676	1640	68254											
KY	339855	broad.mit.edu	37	chr3	134327586	134327586	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgttctcaaactgcctcagaGattgaggaggttttagcagc	11	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:134327586G>T	uc010hty.2	-	10	1057	c.995C>A	c.(994-996)TCT>TAT	p.S332Y	KY_uc011blw.1_Intron|KY_uc011blx.1_Missense_Mutation_p.S311Y|KY_uc003eqr.1_Missense_Mutation_p.S98Y	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	332						cytoskeleton|Z disc	peptidase activity			ovary(2)	2						CTGCCTCAGAGATTGAGGAGG	0.483													T	134327586	G	T	134327586	3	4	104	1	0	0	0	0	1	0	0	0	8586	942	33	5	998	5	KY	3	134327586	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1141832	134327586	63694844	1641	68255											
PPP2R3A	5523	broad.mit.edu	37	chr3	135863921	135863921	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagatgaacctgcctctccCtctgaatttggaaacaaaag	7	11	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:135863921C>A	uc003eqv.1	+	14	3931	c.3366C>A	c.(3364-3366)CCC>CCA	p.P1122P	PPP2R3A_uc011blz.1_Silent_p.P386P|PPP2R3A_uc003eqw.1_Silent_p.P501P	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	1122					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						CTGCCTCTCCCTCTGAATTTG	0.353													A	135863921	C	A	135863921	2	1	104	1	0	0	0	0	0	0	0	1	12388	668	24	5		5	PPP2R3A	3	135863921	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1536335	135863921	62158509	1642	68256											
MSL2	55167	broad.mit.edu	37	chr3	135871511	135871511	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatcattttcttgcctTtacaagttttgcagacataa	4	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:135871511T>G	uc003eqx.1	-	2	945	c.212A>C	c.(211-213)AAA>ACA	p.K71T	MSL2_uc011bmb.1_5'UTR	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	71	RING-type.				histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						TTTCTTGCCTTTACAAGTTTT	0.423													G	135871511	T	G	135871511	3	3	104	1	0	0	0	0	1	0	0	0	9878	1841	64	5	1525	5	MSL2	3	135871511	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	7590	135871511	62150919	1643	68257											
PCCB	5096	broad.mit.edu	37	chr3	135974701	135974701	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttgttccattgtagggaAagctaacagccagggagagg	13	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:135974701A>G	uc003eqy.1	+	2	238	c.187A>G	c.(187-189)AAG>GAG	p.K63E	PCCB_uc003eqz.1_Missense_Mutation_p.K63E|PCCB_uc011bmc.1_Missense_Mutation_p.K63E|PCCB_uc011bmd.1_5'UTR	NM_000532	NP_000523	P05166	PCCB_HUMAN	propionyl Coenzyme A carboxylase, beta	63	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity				0					Biotin(DB00121)|L-Valine(DB00161)	ATTGTAGGGAAAGCTAACAGC	0.483													G	135974701	A	G	135974701	3	3	104	1	0	0	0	0	1	0	0	0	11505	15	1	3	193	3	PCCB	3	135974701	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	103190	135974701	62047729	1644	68258											
PCCB	5096	broad.mit.edu	37	chr3	136046553	136046553	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tatgcctggcccaccgcagaGattgcagtcatgggagcaaa	12	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:136046553G>T	uc003eqy.1	+	13	1428	c.1377G>T	c.(1375-1377)GAG>GAT	p.E459D	PCCB_uc003eqz.1_Missense_Mutation_p.E459D|PCCB_uc011bmc.1_Missense_Mutation_p.E479D	NM_000532	NP_000523	P05166	PCCB_HUMAN	propionyl Coenzyme A carboxylase, beta	459	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity				0					Biotin(DB00121)|L-Valine(DB00161)	CCACCGCAGAGATTGCAGTCA	0.517													T	136046553	G	T	136046553	3	4	104	1	0	0	0	0	1	0	0	0	11505	933	33	5	1491	5	PCCB	3	136046553	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	71852	136046553	61975877	1645	68259											
STAG1	10274	broad.mit.edu	37	chr3	136240172	136240172	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatgctatactgacactgtcGaatcaggactccaataaatt	6	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:136240172G>A	uc003era.1	-	7	851	c.559C>T	c.(559-561)CGA>TGA	p.R187*	STAG1_uc003erb.1_Nonsense_Mutation_p.R187*|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_Nonsense_Mutation_p.R50*|STAG1_uc003erd.2_Nonsense_Mutation_p.R90*|STAG1_uc003ere.2_Nonsense_Mutation_p.R187*	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	187					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						TGACACTGTCGAATCAGGACT	0.398													A	136240172	G	A	136240172	4	1	104	1	0	0	0	0	0	1	0	0	15241	1066	37	1	3329	1	STAG1	3	136240172	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	193619	136240172	61782258	1646	68260											
NCK1	4690	broad.mit.edu	37	chr3	136646968	136646968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taagtcctggtggcgagttcGaaattccatgaataaaacag	10	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:136646968G>A	uc003erh.2	+	2	232	c.125G>A	c.(124-126)CGA>CAA	p.R42Q	NCK1_uc011bme.1_5'Flank	NM_006153	NP_006144	P16333	NCK1_HUMAN	NCK adaptor protein 1	42	SH3 1.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			pancreas(1)	1						TGGCGAGTTCGAAATTCCATG	0.393													A	136646968	G	A	136646968	3	1	104	1	0	0	0	0	1	0	0	0	10219	1058	37	1	127	1	NCK1	3	136646968	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	406796	136646968	61375462	1647	68261											
DZIP1L	199221	broad.mit.edu	37	chr3	137811252	137811252	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgtagagttctgcttggcGacatttttaaattcatccca	8	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:137811252G>A	uc003erq.2	-	5	1206	c.843C>T	c.(841-843)GTC>GTT	p.V281V	DZIP1L_uc003err.1_Silent_p.V281V	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	281	Potential.					intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						TCTGCTTGGCGACATTTTTAA	0.308													A	137811252	G	A	137811252	2	1	104	1	0	0	0	0	0	0	0	1	4864	1045	37	1		1	DZIP1L	3	137811252	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1164284	137811252	60211178	1648	68262											
ESYT3	83850	broad.mit.edu	37	chr3	138183346	138183346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctgaaccccacctggaacGaagtgtttgaggtaagggtc	12	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:138183346G>A	uc003esk.2	+	9	1301	c.1075G>A	c.(1075-1077)GAA>AAA	p.E359K	ESYT3_uc010hug.2_RNA	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	359	C2 1.					integral to membrane|plasma membrane					0						CACCTGGAACGAAGTGTTTGA	0.582													A	138183346	G	A	138183346	3	1	104	1	0	0	0	0	1	0	0	0	5266	1059	37	1	1109	1	ESYT3	3	138183346	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	372094	138183346	59839084	1649	68263											
PIK3CB	5291	broad.mit.edu	37	chr3	138453486	138453486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaaacttacagaaataattCgtgttttctttggtggtaat	7	4	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:138453486C>T	uc011bmq.1	-	5	962	c.962G>A	c.(961-963)CGA>CAA	p.R321Q		NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	321					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						AGAAATAATTCGTGTTTTCTT	0.333													T	138453486	C	T	138453486	3	4	104	1	0	0	0	0	1	0	0	0	11914	884	31	1	2320	1	PIK3CB	3	138453486	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	270140	138453486	59568944	1650	68264											
COPB2	9276	broad.mit.edu	37	chr3	139085471	139085471	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggaatggtaggaaggaccTtatcagccatgctaaagtcc	11	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:139085471T>G	uc003etf.3	-	15	1953	c.1823A>C	c.(1822-1824)AAG>ACG	p.K608T	COPB2_uc011bmv.1_Missense_Mutation_p.K579T|COPB2_uc010hui.2_Missense_Mutation_p.K579T	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	608					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2						AGGAAGGACCTTATCAGCCAT	0.413													G	139085471	T	G	139085471	3	3	104	1	0	0	0	0	1	0	0	0	3729	1609	56	5	929	5	COPB2	3	139085471	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	631985	139085471	58936959	1651	68265											
TRIM42	287015	broad.mit.edu	37	chr3	140397213	140397213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcccttacaaagatgagCggaactgccagttctgccac	9	14	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:140397213C>T	uc003eto.1	+	1	333	c.142C>T	c.(142-144)CGG>TGG	p.R48W		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	48	Cys-rich.					intracellular	zinc ion binding			lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						CAAAGATGAGCGGAACTGCCA	0.542													T	140397213	C	T	140397213	3	4	104	1	0	0	0	0	1	0	0	0	16514	759	27	1	144	1	TRIM42	3	140397213	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1311742	140397213	57625217	1652	68266											
SLC25A36	55186	broad.mit.edu	37	chr3	140675425	140675425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actggaagttgtaaaaacacGactgcagtcatcttctgtga	9	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:140675425G>A	uc003etr.2	+	2	333	c.98G>A	c.(97-99)CGA>CAA	p.R33Q	SLC25A36_uc003etp.2_Missense_Mutation_p.R33Q|SLC25A36_uc003ets.2_Missense_Mutation_p.R33Q|SLC25A36_uc003etq.2_5'UTR|SLC25A36_uc011bmz.1_Missense_Mutation_p.R33Q	NM_001104647	NP_001098117	Q96CQ1	S2536_HUMAN	solute carrier family 25, member 36 isoform a	33	Solcar 1.				response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						GTAAAAACACGACTGCAGTCA	0.418													A	140675425	G	A	140675425	3	1	104	1	0	0	0	0	1	0	0	0	14500	1058	37	1	104	1	SLC25A36	3	140675425	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	278212	140675425	57347005	1653	68267											
SLC25A36	55186	broad.mit.edu	37	chr3	140675523	140675523	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tagtgtctcccggacctcttCattgcctaaagtgagagcat	9	11	3	1	rs77926656		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:140675523C>A	uc003etr.2	+	2	431	c.196C>A	c.(196-198)CAT>AAT	p.H66N	SLC25A36_uc003etp.2_Missense_Mutation_p.H66N|SLC25A36_uc003ets.2_Missense_Mutation_p.H66N|SLC25A36_uc003etq.2_5'UTR|SLC25A36_uc011bmz.1_Missense_Mutation_p.H66N	NM_001104647	NP_001098117	Q96CQ1	S2536_HUMAN	solute carrier family 25, member 36 isoform a	66	Solcar 1.				response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						CGGACCTCTTCATTGCCTAAA	0.423													A	140675523	C	A	140675523	3	1	104	1	0	0	0	0	1	0	0	0	14500	826	29	5	202	5	SLC25A36	3	140675523	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	98	140675523	57346907	1654	68268											
TFDP2	7029	broad.mit.edu	37	chr3	141682680	141682680	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctggagatgctgcaatctatGactgtttttctgcttgtatt	9	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:141682680G>T	uc003eun.3	-	10	1237	c.858C>A	c.(856-858)GTC>GTA	p.V286V	TFDP2_uc003euk.3_Silent_p.V199V|TFDP2_uc010hur.2_Silent_p.V226V|TFDP2_uc003eul.3_Silent_p.V226V|TFDP2_uc011bnf.1_Silent_p.V189V|TFDP2_uc011bng.1_Silent_p.V150V|TFDP2_uc003eum.3_Silent_p.V226V	NM_006286	NP_006277	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization	286	Dimerization (Potential).|DCB2.				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)	1						TGCAATCTATGACTGTTTTTC	0.448													T	141682680	G	T	141682680	2	4	104	1	0	0	0	0	0	0	0	1	15795	1277	45	5		5	TFDP2	3	141682680	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1007157	141682680	56339750	1655	68269											
ATR	545	broad.mit.edu	37	chr3	142186856	142186856	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctctaaggattttttcatatGaatagctttattgaggattt	7	4	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:142186856G>T	uc003eux.3	-	39	6729	c.6607C>A	c.(6607-6609)CAT>AAT	p.H2203N	ATR_uc003euy.1_Missense_Mutation_p.H89N	NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	2203					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						TTTTTCATATGAATAGCTTTA	0.343								Other_conserved_DNA_damage_response_genes					T	142186856	G	T	142186856	3	4	104	1	0	0	0	0	1	0	0	0	1204	1290	45	5	1363	5	ATR	3	142186856	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	504176	142186856	55835574	1656	68270											
ATR	545	broad.mit.edu	37	chr3	142231276	142231276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtatttatggtatgctgatCgtcatgctttagaactgcca	10	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:142231276C>T	uc003eux.3	-	27	4800	c.4678G>A	c.(4678-4680)GAT>AAT	p.D1560N		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1560					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						GTATGCTGATCGTCATGCTTT	0.338								Other_conserved_DNA_damage_response_genes					T	142231276	C	T	142231276	3	4	104	1	0	0	0	0	1	0	0	0	1204	884	31	1	3340	1	ATR	3	142231276	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	44420	142231276	55791154	1657	68271											
ATR	545	broad.mit.edu	37	chr3	142281952	142281952	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatgatccaattactgaattCtttgaaataaacaaaaaaga	4	5	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:142281952C>A	uc003eux.3	-	4	415	c.293_splice	c.e4-1	p.E98_splice		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein						cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						TTACTGAATTCTTTGAAATAA	0.318								Other_conserved_DNA_damage_response_genes					A	142281952	C	A	142281952	5	1	104	1	0	0	0	0	0	0	1	0	1204	927	32	5	7818	5	ATR	3	142281952	Splice_Site	SNP	C	TCGA-BR-8680-01A-11D-2394-08	50676	142281952	55740478	1658	68272											
TRPC1	7220	broad.mit.edu	37	chr3	142525010	142525010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaagatctgtcaaaattccGaaatgaaataagggatttac	7	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:142525010G>A	uc003evc.2	+	13	2451	c.2315G>A	c.(2314-2316)CGA>CAA	p.R772Q	TRPC1_uc003evb.2_Missense_Mutation_p.R738Q	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	772					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						TCAAAATTCCGAAATGAAATA	0.363													A	142525010	G	A	142525010	3	1	104	1	0	0	0	0	1	0	0	0	16575	1058	37	1	2259	1	TRPC1	3	142525010	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	243058	142525010	55497420	1659	68273											
SR140	23350	broad.mit.edu	37	chr3	142775251	142775251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagatcccagtccagatctCcacacaggtctcataaaaag	6	14	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:142775251C>T	uc003evh.1	+	28	3148	c.3049C>T	c.(3049-3051)CCA>TCA	p.P1017S	SR140_uc003evi.1_Missense_Mutation_p.P608S|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.P1016S	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	1017					RNA processing	nucleus	nucleotide binding|RNA binding				0						GTCCAGATCTCCACACAGGTC	0.408													T	142775251	C	T	142775251	3	4	104	1	0	0	0	0	1	0	0	0	15130	855	30	4	3159	4	SR140	3	142775251	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	250241	142775251	55247179	1660	68274											
SLC9A9	285195	broad.mit.edu	37	chr3	143271229	143271229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagttcttattttggaatccGaagacagattgttgtaggta	10	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:143271229G>A	uc003evn.2	-	9	1246	c.1064C>T	c.(1063-1065)TCG>TTG	p.S355L		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	355					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3						TTTGGAATCCGAAGACAGATT	0.343													A	143271229	G	A	143271229	3	1	104	1	0	0	0	0	1	0	0	0	14721	1059	37	1	905	1	SLC9A9	3	143271229	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	495978	143271229	54751201	1661	68275											
SLC9A9	285195	broad.mit.edu	37	chr3	143550871	143550871	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatccttaccttttcaagtAtagcatttccttgatgagga	8	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:143550871A>G	uc003evn.2	-	2	550	c.368T>C	c.(367-369)ATA>ACA	p.I123T	SLC9A9_uc011bnk.1_Intron	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	123					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3						CTTTTCAAGTATAGCATTTCC	0.294													G	143550871	A	G	143550871	3	3	104	1	0	0	0	0	1	0	0	0	14721	449	16	3	1629	3	SLC9A9	3	143550871	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	279642	143550871	54471559	1662	68276											
C3orf58	205428	broad.mit.edu	37	chr3	143708552	143708552	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccttcatgatccaccaagtGaaattgccaaagatggccgg	9	11	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:143708552G>T	uc003evo.2	+	3	1697	c.1162G>T	c.(1162-1164)GAA>TAA	p.E388*	C3orf58_uc011bnl.1_Nonsense_Mutation_p.E179*	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	hypothetical protein LOC205428 isoform a	388						COPI vesicle coat|extracellular region				ovary(1)	1						TCCACCAAGTGAAATTGCCAA	0.512													T	143708552	G	T	143708552	4	4	104	1	0	0	0	0	0	1	0	0	2236	1291	45	5	1206	5	C3orf58	3	143708552	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	157681	143708552	54313878	1663	68277											
PLSCR4	57088	broad.mit.edu	37	chr3	145917772	145917772	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggttacaatgtaaaccatcTggtctgagttgtttttaata	8	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:145917772T>G	uc010huy.2	-	6	781	c.452A>C	c.(451-453)CAG>CCG	p.Q151P	PLSCR4_uc010huz.2_Missense_Mutation_p.Q151P|PLSCR4_uc003evt.3_Missense_Mutation_p.Q151P|PLSCR4_uc010hva.2_Intron|PLSCR4_uc003evu.3_Intron	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4 isoform a	151	Cytoplasmic (By similarity).				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding				0						GTAAACCATCTGGTCTGAGTT	0.363													G	145917772	T	G	145917772	3	3	104	1	0	0	0	0	1	0	0	0	12112	1580	55	5	553	5	PLSCR4	3	145917772	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2209220	145917772	52104658	1664	68278											
GYG1	2992	broad.mit.edu	37	chr3	148714244	148714244	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtattcaaaatgtgtatTcatggatgcagatactctgg	9	6	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:148714244T>G	uc003ewn.2	+	3	352	c.299T>G	c.(298-300)TTC>TGC	p.F100C	GYG1_uc011bnp.1_Missense_Mutation_p.F100C|GYG1_uc003ewo.2_Missense_Mutation_p.F100C|GYG1_uc003ewp.2_Missense_Mutation_p.F100C	NM_004130	NP_004121	P46976	GLYG_HUMAN	glycogenin 1	100					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AAATGTGTATTCATGGATGCA	0.443													G	148714244	T	G	148714244	3	3	104	1	0	0	0	0	1	0	0	0	6905	1783	62	5	309	5	GYG1	3	148714244	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2796472	148714244	49308186	1665	68279											
HLTF	6596	broad.mit.edu	37	chr3	148789221	148789221	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgtggaagcagtggtgTttcaatagcctataaataaa	10	4	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:148789221T>G	uc003ewq.1	-	7	930	c.712A>C	c.(712-714)ACA>CCA	p.T238P	HLTF_uc003ewr.1_Missense_Mutation_p.T238P|HLTF_uc003ews.1_Missense_Mutation_p.T238P|HLTF_uc010hve.1_Missense_Mutation_p.T238P	NM_139048	NP_620636	Q14527	HLTF_HUMAN	helicase-like transcription factor	238					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGCAGTGGTGTTTCAATAGCC	0.363													G	148789221	T	G	148789221	3	3	104	1	0	0	0	0	1	0	0	0	7215	1725	60	5	2393	5	HLTF	3	148789221	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	74977	148789221	49233209	1666	68280											
HPS3	84343	broad.mit.edu	37	chr3	148868424	148868424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgcggtgcagtgcggCggcagctcgtgaggaggacc	18	11	0	1	rs142082044		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:148868424C>T	uc003ewu.1	+	6	1342	c.1202C>T	c.(1201-1203)GCG>GTG	p.A401V	HPS3_uc003ewt.1_Missense_Mutation_p.A401V|HPS3_uc011bnq.1_Missense_Mutation_p.A236V	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	401						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGCAGTGCGGCGGCAGCTCGT	0.522									Hermansky-Pudlak_syndrome				T	148868424	C	T	148868424	3	4	104	1	0	0	0	0	1	0	0	0	7340	768	27	1	1224	1	HPS3	3	148868424	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	79203	148868424	49154006	1667	68281											
CP	1356	broad.mit.edu	37	chr3	148927157	148927157	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcaatatgtttttctttttCtttatctagagaatctggag	7	5	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:148927157C>A	uc003ewy.3	-	4	875	c.622G>T	c.(622-624)GAA>TAA	p.E208*	CP_uc011bnr.1_RNA|CP_uc003ewx.3_5'UTR|CP_uc003ewz.2_Nonsense_Mutation_p.E208*|CP_uc010hvf.1_5'Flank	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	208	F5/8 type A 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTTTCTTTTTCTTTATCTAGA	0.303													A	148927157	C	A	148927157	4	1	104	1	0	0	0	0	0	1	0	0	3787	922	32	5	2639	5	CP	3	148927157	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	58733	148927157	49095273	1668	68282											
CP	1356	broad.mit.edu	37	chr3	148928079	148928079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggactttgttcttcagtgGcaagcaacatgtatgtatac	9	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:148928079G>A	uc003ewy.3	-	3	735	c.482C>T	c.(481-483)GCC>GTC	p.A161V	CP_uc011bnr.1_RNA|CP_uc003ewx.3_5'Flank|CP_uc003ewz.2_Missense_Mutation_p.A161V|CP_uc010hvf.1_5'Flank	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	161	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTCTTCAGTGGCAAGCAACAT	0.443													A	148928079	G	A	148928079	3	1	104	1	0	0	0	0	1	0	0	0	3787	1203	42	2	2783	2	CP	3	148928079	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	922	148928079	49094351	1669	68283											
WWTR1	25937	broad.mit.edu	37	chr3	149238736	149238736	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatcagggaaacgggtctgTtggggattgatgttcatggg	16	4	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:149238736T>C	uc003exe.2	-	6	1075	c.1059A>G	c.(1057-1059)CAA>CAG	p.Q353Q	WWTR1_uc003exf.2_Silent_p.Q353Q|WWTR1_uc011bns.1_Silent_p.Q353Q|WWTR1_uc003exh.2_Silent_p.Q353Q	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	353					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	p.Q353*(1)		breast(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AACGGGTCTGTTGGGGATTGA	0.418													C	149238736	T	C	149238736	2	2	104	1	0	0	0	0	0	0	0	1	17414	1722	60	3		3	WWTR1	3	149238736	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	310657	149238736	48783694	1670	68284											
TSC22D2	9819	broad.mit.edu	37	chr3	150176284	150176284	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaaaatgcactgttaaaatCtctttcaagcaatgatcaat	5	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:150176284C>A	uc003exv.2	+	4	2554	c.2204C>A	c.(2203-2205)TCT>TAT	p.S735Y	TSC22D2_uc003exw.2_RNA|TSC22D2_uc003exx.2_Missense_Mutation_p.S711Y	NM_014779	NP_055594	O75157	T22D2_HUMAN	TSC22 domain family, member 2	735							sequence-specific DNA binding transcription factor activity			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTGTTAAAATCTCTTTCAAGC	0.398													A	150176284	C	A	150176284	3	1	104	1	0	0	0	0	1	0	0	0	16605	913	32	5	2218	5	TSC22D2	3	150176284	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	937548	150176284	47846146	1671	68285											
SIAH2	6478	broad.mit.edu	37	chr3	150460058	150460058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagccacaccgtcatgaatcGaacggggcgtggcctcccag	12	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:150460058G>A	uc003eyi.2	-	2	1472	c.845C>T	c.(844-846)TCG>TTG	p.S282L		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	282	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTCATGAATCGAACGGGGCGT	0.547													A	150460058	G	A	150460058	3	1	104	1	0	0	0	0	1	0	0	0	14300	1059	37	1	133	1	SIAH2	3	150460058	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	283774	150460058	47562372	1672	68286											
CLRN1	7401	broad.mit.edu	37	chr3	150659437	150659437	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaaggttttccaaaagcaTtgtacatgaagaaggctgtc	9	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:150659437T>G	uc003eyk.1	-	2	656	c.365A>C	c.(364-366)AAT>ACT	p.N122T	CLRN1OS_uc011bny.1_Intron|CLRN1_uc003eyj.2_Missense_Mutation_p.N46T|CLRN1_uc010hvj.1_RNA	NM_174878	NP_777367	P58418	CLRN1_HUMAN	clarin 1 isoform a	122					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane					0			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCCAAAAGCATTGTACATGAA	0.428													G	150659437	T	G	150659437	3	3	104	1	0	0	0	0	1	0	0	0	3557	1493	52	5	366	5	CLRN1	3	150659437	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	199379	150659437	47362993	1673	68287											
P2RY14	9934	broad.mit.edu	37	chr3	150931482	150931482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagattttctttgtgataGcagtatagaaaacgattaac	7	4	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:150931482G>A	uc003eyr.1	-	3	1101	c.623C>T	c.(622-624)GCT>GTT	p.A208V	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.A208V	NM_001081455	NP_001074924	Q15391	P2Y14_HUMAN	P2Y14 receptor	208	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			large_intestine(2)|ovary(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTTTGTGATAGCAGTATAGAA	0.403													A	150931482	G	A	150931482	3	1	104	1	0	0	0	0	1	0	0	0	11351	971	34	2	397	2	P2RY14	3	150931482	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	272045	150931482	47090948	1674	68288											
P2RY13	53829	broad.mit.edu	37	chr3	151045839	151045839	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcttggcttgatgctgtggtCtttctcccttgcatacatgg	10	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:151045839C>T	uc003eyv.2	-	2	1026	c.1005G>A	c.(1003-1005)AAG>AAA	p.K335K	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	335						integral to membrane|plasma membrane				ovary(3)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			ATGCTGTGGTCTTTCTCCCTT	0.363													T	151045839	C	T	151045839	2	4	104	1	0	0	0	0	0	0	0	1	11350	912	32	4		4	P2RY13	3	151045839	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	114357	151045839	46976591	1675	68289											
MED12L	116931	broad.mit.edu	37	chr3	151127057	151127057	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccgggggaccaggctgctctCtttgctgcgcaagcacggcc	14	15	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:151127057C>A	uc003eyp.2	+	38	5780	c.5742C>A	c.(5740-5742)CTC>CTA	p.L1914L	MED12L_uc011bnz.1_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1914	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGCTGCTCTCTTTGCTGCGC	0.522													A	151127057	C	A	151127057	2	1	104	1	0	0	0	0	0	0	0	1	9429	900	32	5		5	MED12L	3	151127057	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	81218	151127057	46895373	1676	68290											
IGSF10	285313	broad.mit.edu	37	chr3	151162770	151162770	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagcttcacagggaagaaAggcatctgagttagctggaa	12	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:151162770A>C	uc011bod.1	-	4	4999	c.4999T>G	c.(4999-5001)TTT>GTT	p.F1667V		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1667	Ig-like C2-type 3.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGGGAAGAAAGGCATCTGAG	0.413													C	151162770	A	C	151162770	3	2	104	1	0	0	0	0	1	0	0	0	7597	72	3	5	2932	5	IGSF10	3	151162770	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	35713	151162770	46859660	1677	68291											
IGSF10	285313	broad.mit.edu	37	chr3	151166641	151166641	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtacaaagccaaaatTtgccacactggctgaatgtg	8	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:151166641T>G	uc011bod.1	-	4	1128	c.1128A>C	c.(1126-1128)CAA>CAC	p.Q376H		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	376					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGCCAAAATTTGCCACACTG	0.393													G	151166641	T	G	151166641	3	3	104	1	0	0	0	0	1	0	0	0	7597	1838	64	5	6803	5	IGSF10	3	151166641	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	3871	151166641	46855789	1678	68292											
AADAC	13	broad.mit.edu	37	chr3	151542473	151542473	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acagattagcacctaagtatCatttcccaattcaatttgaa	4	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:151542473C>A	uc003eze.2	+	4	544	c.454C>A	c.(454-456)CAT>AAT	p.H152N		NM_001086	NP_001077	P22760	AAAD_HUMAN	arylacetamide deacetylase	152	Lumenal (Potential).				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			skin(2)	2		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ACCTAAGTATCATTTCCCAAT	0.308													A	151542473	C	A	151542473	3	1	104	1	0	0	0	0	1	0	0	0	10	826	29	5	468	5	AADAC	3	151542473	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	375832	151542473	46479957	1679	68293											
TMEM14E	645843	broad.mit.edu	37	chr3	152058590	152058590	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagcagaaggggactggacaGaacctacttttgcataacca	10	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:152058590G>A	uc010hvo.2	-	1	190	c.104C>T	c.(103-105)TCT>TTT	p.S35F	MBNL1_uc003ezh.2_Intron|MBNL1_uc003ezi.2_Intron|MBNL1_uc003ezj.2_Intron|MBNL1_uc003ezm.2_Intron|MBNL1_uc003ezl.2_Intron|MBNL1_uc003ezp.2_Intron|MBNL1_uc003ezn.2_Intron|MBNL1_uc003ezo.2_Intron	NM_001123228	NP_001116700	Q6UXP3	TM14E_HUMAN	transmembrane protein 14E	35						integral to membrane					0						GGACTGGACAGAACCTACTTT	0.507													A	152058590	G	A	152058590	3	1	104	1	0	0	0	0	1	0	0	0	16063	942	33	4	277	4	TMEM14E	3	152058590	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	516117	152058590	45963840	1680	68294											
DHX36	170506	broad.mit.edu	37	chr3	154002448	154002448	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttgcatctgcaatcTtttcttttcccttaaaaata	2	10	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:154002448T>G	uc003ezy.3	-	19	2297	c.2216A>C	c.(2215-2217)AAG>ACG	p.K739T	DHX36_uc010hvq.2_Missense_Mutation_p.K725T|DHX36_uc003ezz.3_Intron	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	739						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ATCTGCAATCTTTTCTTTTCC	0.313													G	154002448	T	G	154002448	3	3	104	1	0	0	0	0	1	0	0	0	4509	1609	56	5	838	5	DHX36	3	154002448	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1943858	154002448	44019982	1681	68295											
DHX36	170506	broad.mit.edu	37	chr3	154002693	154002693	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacagtgctccaaaaagaatCatttttccaatatgtggctc	6	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:154002693C>A	uc003ezy.3	-	18	2196	c.2115G>T	c.(2113-2115)ATG>ATT	p.M705I	DHX36_uc010hvq.2_Missense_Mutation_p.M691I|DHX36_uc003ezz.3_Missense_Mutation_p.M705I	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	705						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CAAAAAGAATCATTTTTCCAA	0.413													A	154002693	C	A	154002693	3	1	104	1	0	0	0	0	1	0	0	0	4509	826	29	5	943	5	DHX36	3	154002693	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	245	154002693	44019737	1682	68296											
DHX36	170506	broad.mit.edu	37	chr3	154042185	154042185	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccccatcacggccccagttCtgatggtagtcataactcat	7	15	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:154042185C>A	uc003ezy.3	-	1	102	c.21G>T	c.(19-21)CAG>CAT	p.Q7H	DHX36_uc010hvq.2_Missense_Mutation_p.Q7H|DHX36_uc003ezz.3_Missense_Mutation_p.Q7H	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	7						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GGCCCCAGTTCTGATGGTAGT	0.657													A	154042185	C	A	154042185	3	1	104	1	0	0	0	0	1	0	0	0	4509	912	32	5	3105	5	DHX36	3	154042185	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	39492	154042185	43980245	1683	68297											
PLCH1	23007	broad.mit.edu	37	chr3	155282900	155282900	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaggactacgcatgaagttCgtgaagcctttggaagaaag	13	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:155282900C>T	uc011bok.1	-	7	1114	c.837G>A	c.(835-837)ACG>ACA	p.T279T	PLCH1_uc011boj.1_Silent_p.T279T|PLCH1_uc011bol.1_Silent_p.T261T	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	279					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCATGAAGTTCGTGAAGCCTT	0.423													T	155282900	C	T	155282900	2	4	104	1	0	0	0	0	0	0	0	1	12037	871	31	1		1	PLCH1	3	155282900	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1240715	155282900	42739530	1684	68298											
PLCH1	23007	broad.mit.edu	37	chr3	155311814	155311814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggcctgtgatccaggtgCgggcctcctcggggttggag	18	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:155311814C>T	uc011bok.1	-	3	627	c.350G>A	c.(349-351)CGC>CAC	p.R117H	PLCH1_uc011boj.1_Missense_Mutation_p.R117H|PLCH1_uc011bol.1_Missense_Mutation_p.R99H	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	117	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GATCCAGGTGCGGGCCTCCTC	0.562													T	155311814	C	T	155311814	3	4	104	1	0	0	0	0	1	0	0	0	12037	768	27	1	4830	1	PLCH1	3	155311814	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	28914	155311814	42710616	1685	68299											
VEPH1	79674	broad.mit.edu	37	chr3	156983335	156983335	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agactttcctttttgaaacaGaagttgatttccagccagtg	8	8	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:156983335G>T	uc003fbj.1	-	13	2562	c.2245C>A	c.(2245-2247)CTG>ATG	p.L749M	VEPH1_uc003fbk.1_Missense_Mutation_p.L749M|VEPH1_uc010hvu.1_Missense_Mutation_p.L704M	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	749	PH.					plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTTTGAAACAGAAGTTGATTT	0.378													T	156983335	G	T	156983335	3	4	104	1	0	0	0	0	1	0	0	0	17151	933	33	5	264	5	VEPH1	3	156983335	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1671521	156983335	41039095	1686	68300											
VEPH1	79674	broad.mit.edu	37	chr3	157081321	157081321	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggagttttctttaacagtttCtgacaaattctctgagtcta	7	7	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:157081321C>A	uc003fbj.1	-	9	1884	c.1567G>T	c.(1567-1569)GAA>TAA	p.E523*	VEPH1_uc003fbk.1_Nonsense_Mutation_p.E523*|VEPH1_uc010hvu.1_Nonsense_Mutation_p.E523*	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	523						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTAACAGTTTCTGACAAATTC	0.393													A	157081321	C	A	157081321	4	1	104	1	0	0	0	0	0	1	0	0	17151	922	32	5	958	5	VEPH1	3	157081321	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	97986	157081321	40941109	1687	68301											
PTX3	5806	broad.mit.edu	37	chr3	157154792	157154792	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgagaactcggatgattatGatctcatgtatgtgaatttg	10	6	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:157154792G>T	uc003fbl.3	+	1	213	c.70G>T	c.(70-72)GAT>TAT	p.D24Y	VEPH1_uc003fbj.1_Intron|VEPH1_uc003fbk.1_Intron|VEPH1_uc010hvu.1_Intron	NM_002852	NP_002843	P26022	PTX3_HUMAN	pentraxin 3 precursor	24					inflammatory response	extracellular region				central_nervous_system(1)	1			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGATGATTATGATCTCATGTA	0.458													T	157154792	G	T	157154792	3	4	104	1	0	0	0	0	1	0	0	0	12822	1290	45	5	72	5	PTX3	3	157154792	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	73471	157154792	40867638	1688	68302											
VEPH1	79674	broad.mit.edu	37	chr3	157188277	157188277	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttgtgattcttgtgatacaGatttcaactactgcctggtc	9	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:157188277G>T	uc003fbj.1	-	3	497	c.180C>A	c.(178-180)ATC>ATA	p.I60I	VEPH1_uc003fbk.1_Silent_p.I60I|VEPH1_uc010hvu.1_Silent_p.I60I|VEPH1_uc003fbm.2_Silent_p.I60I|VEPH1_uc003fbn.2_Silent_p.I60I	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	60						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTGTGATACAGATTTCAACTA	0.413													T	157188277	G	T	157188277	2	4	104	1	0	0	0	0	0	0	0	1	17151	932	33	5		5	VEPH1	3	157188277	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	33485	157188277	40834153	1689	68303											
MLF1	4291	broad.mit.edu	37	chr3	158314734	158314734	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaaattagaaagaaacttCgtaagtactaaaaacaaagc	6	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:158314734C>T	uc003fcb.2	+	3	416	c.279C>T	c.(277-279)TTC>TTT	p.F93F	MLF1_uc003fbz.2_Silent_p.F68F|MLF1_uc003fca.2_Silent_p.F68F|MLF1_uc003fbx.2_Silent_p.F83F|MLF1_uc003fcc.2_Silent_p.F124F|MLF1_uc003fby.2_Silent_p.F19F|MLF1_uc010hvx.2_Silent_p.F68F	NM_022443	NP_071888	P58340	MLF1_HUMAN	myeloid leukemia factor 1 isoform 1	93	Interaction with COPS3.				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding				0		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			AAAGAAACTTCGTAAGTACTA	0.254			T	NPM1	AML								T	158314734	C	T	158314734	2	4	104	1	0	0	0	0	0	0	0	1	9614	898	31	1		1	MLF1	3	158314734	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1126457	158314734	39707696	1690	68304											
MFSD1	64747	broad.mit.edu	37	chr3	158525240	158525240	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttggctgatggaatttggaaGatttgtatttgggtaagtta	13	1	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:158525240G>T	uc003fcl.1	+	5	458	c.428G>T	c.(427-429)AGA>ATA	p.R143I	MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_Missense_Mutation_p.R46I|MFSD1_uc011bow.1_Missense_Mutation_p.R104I|MFSD1_uc011box.1_Missense_Mutation_p.R70I	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing	143	Helical; (Potential).				transmembrane transport	integral to membrane					0			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAATTTGGAAGATTTGTATTT	0.284													T	158525240	G	T	158525240	3	4	104	1	0	0	0	0	1	0	0	0	9527	942	33	5	593	5	MFSD1	3	158525240	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	210506	158525240	39497190	1691	68305											
SMC4	10051	broad.mit.edu	37	chr3	160122287	160122287	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accataatagatttttaattTtacaggtaagtttattaaag	5	3	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:160122287T>G	uc003fdh.2	+	5	795	c.682T>G	c.(682-684)TTA>GTA	p.L228V	IFT80_uc003fda.2_Intron|SMC4_uc003fdf.1_RNA|SMC4_uc003fdg.1_Missense_Mutation_p.L228V|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.L203V|SMC4_uc003fdj.2_Missense_Mutation_p.L228V|SMC4_uc010hwd.2_Missense_Mutation_p.L228V|uc011boz.1_5'Flank|MIR15B_hsa-mir-15b|MI0000438_5'Flank|uc003fdk.2_5'Flank|MIR16-2_hsa-mir-16-2|MI0000115_5'Flank	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	228					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATTTTTAATTTTACAGGTAAG	0.303													G	160122287	T	G	160122287	3	3	104	1	0	0	0	0	1	0	0	0	14785	1838	64	5	696	5	SMC4	3	160122287	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1597047	160122287	37900143	1692	68306											
SI	6476	broad.mit.edu	37	chr3	164758812	164758812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagggtaataaggtgtagCgaatagttaaatactgcctt	12	4	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:164758812C>T	uc003fei.2	-	18	2137	c.2075G>A	c.(2074-2076)CGC>CAC	p.R692H		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	692	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAAGGTGTAGCGAATAGTTAA	0.373										HNSCC(35;0.089)			T	164758812	C	T	164758812	3	4	104	1	0	0	0	0	1	0	0	0	14297	768	27	1	3532	1	SI	3	164758812	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4636525	164758812	33263618	1693	68307											
SI	6476	broad.mit.edu	37	chr3	164758856	164758856	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatttaaccaaaagtgaattCtgcccaaaaaatgcaggatc	7	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:164758856C>T	uc003fei.2	-	18	2093	c.2031G>A	c.(2029-2031)CAG>CAA	p.Q677Q		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	677	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AAAGTGAATTCTGCCCAAAAA	0.338										HNSCC(35;0.089)			T	164758856	C	T	164758856	2	4	104	1	0	0	0	0	0	0	0	1	14297	912	32	4		4	SI	3	164758856	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	44	164758856	33263574	1694	68308											
ZBBX	79740	broad.mit.edu	37	chr3	167086357	167086357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccattcgcagttcttgaGcatttctgaagacataagat	7	9	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:167086357G>A	uc003fep.2	-	5	397	c.74C>T	c.(73-75)GCT>GTT	p.A25V	ZBBX_uc011bpc.1_Missense_Mutation_p.A25V|ZBBX_uc003feq.2_5'UTR	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	25	Potential.					intracellular	zinc ion binding			ovary(2)	2						CAGTTCTTGAGCATTTCTGAA	0.328													A	167086357	G	A	167086357	3	1	104	1	0	0	0	0	1	0	0	0	17513	971	34	2	2396	2	ZBBX	3	167086357	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2327501	167086357	30936073	1695	68309											
ZBBX	79740	broad.mit.edu	37	chr3	167090699	167090699	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttctgttcatgattaccacCttaatattgtctaaaagtta	4	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:167090699C>A	uc003fep.2	-	4	314	c.-9G>T	c.(-11--7)AAGGT>AATGT		ZBBX_uc011bpc.1_Translation_Start_Site|ZBBX_uc003feq.2_Translation_Start_Site	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing							intracellular	zinc ion binding			ovary(2)	2						TGATTACCACCTTAATATTGT	0.294													A	167090699	C	A	167090699	1	1	104	1	0	0	0	0	0	0	0	0	17513	696	24	5		5	ZBBX	3	167090699	Translation_Start_Site	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4342	167090699	30931731	1696	68310											
SERPINI2	5276	broad.mit.edu	37	chr3	167185069	167185069	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacttcagtacaaaaaattcTtcccctagaaaataatttta	3	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:167185069T>G	uc003fer.1	-	2	310	c.252A>C	c.(250-252)GAA>GAC	p.E84D	SERPINI2_uc003fes.1_Missense_Mutation_p.E94D|SERPINI2_uc003fet.1_Missense_Mutation_p.E84D	NM_006217	NP_006208	O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin),	84					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(2)|urinary_tract(1)	3						CAAAAAATTCTTCCCCTAGAA	0.323													G	167185069	T	G	167185069	3	3	104	1	0	0	0	0	1	0	0	0	14119	1606	56	5	993	5	SERPINI2	3	167185069	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	94370	167185069	30837361	1697	68311											
WDR49	151790	broad.mit.edu	37	chr3	167246875	167246875	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttcaaccatccatcaagatCtcctgtggtaaggtatcgat	7	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:167246875C>T	uc003fev.1	-	10	1621	c.1315G>A	c.(1315-1317)GAT>AAT	p.D439N	WDR49_uc003feu.1_Missense_Mutation_p.D264N|WDR49_uc011bpd.1_Missense_Mutation_p.D503N|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	439	WD 7.									large_intestine(1)|ovary(1)|skin(1)	3						CCATCAAGATCTCCTGTGGTA	0.343													T	167246875	C	T	167246875	3	4	104	1	0	0	0	0	1	0	0	0	17299	913	32	4	802	4	WDR49	3	167246875	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	61806	167246875	30775555	1698	68312											
WDR49	151790	broad.mit.edu	37	chr3	167293770	167293770	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catggcttttcaccctcttgCtggcttcacttttcattgcc	6	14	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:167293770C>A	uc003fev.1	-	4	728	c.422G>T	c.(421-423)AGC>ATC	p.S141I	WDR49_uc003feu.1_5'Flank|WDR49_uc011bpd.1_Missense_Mutation_p.S194I|WDR49_uc003few.1_Missense_Mutation_p.S482I	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	141										large_intestine(1)|ovary(1)|skin(1)	3						CACCCTCTTGCTGGCTTCACT	0.408													A	167293770	C	A	167293770	3	1	104	1	0	0	0	0	1	0	0	0	17299	797	28	5	1719	5	WDR49	3	167293770	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	46895	167293770	30728660	1699	68313											
GOLIM4	27333	broad.mit.edu	37	chr3	167750634	167750634	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgccacacatcattatttcGagacacctaggccaagcaca	6	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:167750634G>A	uc003ffe.2	-	9	1194	c.850C>T	c.(850-852)CGA>TGA	p.R284*	GOLIM4_uc011bpe.1_Nonsense_Mutation_p.R284*|GOLIM4_uc011bpf.1_Nonsense_Mutation_p.R256*|GOLIM4_uc011bpg.1_Nonsense_Mutation_p.R256*	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	284	Lumenal (Potential).				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)|skin(1)	5						TCATTATTTCGAGACACCTAG	0.453													A	167750634	G	A	167750634	4	1	104	1	0	0	0	0	0	1	0	0	6566	1066	37	1	1272	1	GOLIM4	3	167750634	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	456864	167750634	30271796	1700	68314											
MECOM	2122	broad.mit.edu	37	chr3	168802737	168802737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatagcactggattccgccGcagccctggccatactgtgc	12	14	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:168802737G>A	uc003ffi.3	-	16	3385	c.3116C>T	c.(3115-3117)GCG>GTG	p.A1039V	MECOM_uc010hwk.1_3'UTR|MECOM_uc003ffj.3_Missense_Mutation_p.A1104V|MECOM_uc011bpi.1_Missense_Mutation_p.A1031V|MECOM_uc003ffn.3_Missense_Mutation_p.A1039V|MECOM_uc003ffk.2_Missense_Mutation_p.A1030V|MECOM_uc003ffl.2_Missense_Mutation_p.A1190V|MECOM_uc011bpj.1_Missense_Mutation_p.A1227V|MECOM_uc011bpk.1_Missense_Mutation_p.A1029V	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	1039					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						GGATTCCGCCGCAGCCCTGGC	0.517													A	168802737	G	A	168802737	3	1	104	1	0	0	0	0	1	0	0	0	9422	1087	38	1	43	1	MECOM	3	168802737	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1052103	168802737	29219693	1701	68315											
ARPM1	84517	broad.mit.edu	37	chr3	169485577	169485577	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagagaagagggcctctggAcaagaaaagagctggtcatg	16	6	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:169485577A>G	uc003ffs.1	-	2	1137	c.762T>C	c.(760-762)TGT>TGC	p.C254C	TERC_uc003ffr.1_5'Flank	NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	actin related protein M1	254						cytoplasm|cytoskeleton					0	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GGGCCTCTGGACAAGAAAAGA	0.473													G	169485577	A	G	169485577	2	3	104	1	0	0	0	0	0	0	0	1	976	273	10	3		3	ARPM1	3	169485577	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	682840	169485577	28536853	1702	68316											
MYNN	55892	broad.mit.edu	37	chr3	169496751	169496751	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgagattataataatcgagaGaaatcagaagtatctacaga	8	5	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:169496751G>T	uc003fft.2	+	3	891	c.462G>T	c.(460-462)GAG>GAT	p.E154D	MYNN_uc011bpm.1_Missense_Mutation_p.E40D|MYNN_uc003ffu.2_Missense_Mutation_p.E154D|MYNN_uc003ffv.2_5'UTR|MYNN_uc010hwo.2_Missense_Mutation_p.E154D|MYNN_uc003ffw.1_RNA	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	myoneurin	154						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ATAATCGAGAGAAATCAGAAG	0.353													T	169496751	G	T	169496751	3	4	104	1	0	0	0	0	1	0	0	0	10061	933	33	5	468	5	MYNN	3	169496751	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	11174	169496751	28525679	1703	68317											
LRRC34	151827	broad.mit.edu	37	chr3	169513321	169513321	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccccaaatgtagatatgagaGaaagtgagatttgttttcat	9	5	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:169513321G>T	uc003ffx.2	-	9	1023	c.1008C>A	c.(1006-1008)TTC>TTA	p.F336L	LRRC34_uc003ffy.2_Missense_Mutation_p.F368L|LRRC34_uc011bpn.1_3'UTR|LRRC34_uc003ffz.2_Missense_Mutation_p.F320L|LRRC34_uc003fga.3_3'UTR	NM_153353	NP_699184	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	336											0	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AGATATGAGAGAAAGTGAGAT	0.373													T	169513321	G	T	169513321	3	4	104	1	0	0	0	0	1	0	0	0	8989	933	33	5	259	5	LRRC34	3	169513321	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	16570	169513321	28509109	1704	68318											
LRRC34	151827	broad.mit.edu	37	chr3	169525227	169525227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataatacctgaagcagtttcGcagcatagtatgcaccaaca	7	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:169525227G>A	uc003ffx.2	-	4	407	c.392C>T	c.(391-393)GCG>GTG	p.A131V	LRRC34_uc003ffy.2_Missense_Mutation_p.A131V|LRRC34_uc011bpn.1_Missense_Mutation_p.A131V|LRRC34_uc003ffz.2_Missense_Mutation_p.A83V|LRRC34_uc003fga.3_Missense_Mutation_p.A83V	NM_153353	NP_699184	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	131											0	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AAGCAGTTTCGCAGCATAGTA	0.328													A	169525227	G	A	169525227	3	1	104	1	0	0	0	0	1	0	0	0	8989	1087	38	1	1017	1	LRRC34	3	169525227	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	11906	169525227	28497203	1705	68319											
LRRC34	151827	broad.mit.edu	37	chr3	169525456	169525456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctttctactggcactaagCgattgttaccagcaatgttt	7	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:169525456C>T	uc003ffx.2	-	3	275	c.260G>A	c.(259-261)CGC>CAC	p.R87H	LRRC34_uc003ffy.2_Missense_Mutation_p.R87H|LRRC34_uc011bpn.1_Missense_Mutation_p.R87H|LRRC34_uc003ffz.2_Missense_Mutation_p.R39H|LRRC34_uc003fga.3_Missense_Mutation_p.R39H	NM_153353	NP_699184	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	87											0	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TGGCACTAAGCGATTGTTACC	0.289													T	169525456	C	T	169525456	3	4	104	1	0	0	0	0	1	0	0	0	8989	768	27	1	1153	1	LRRC34	3	169525456	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	229	169525456	28496974	1706	68320											
LRRIQ4	344657	broad.mit.edu	37	chr3	169539922	169539922	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caggagattcagcgtttaaaGaacatcagggtcctctacct	9	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:169539922G>T	uc003fgb.2	+	1	213	c.213G>T	c.(211-213)AAG>AAT	p.K71N		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	71											0						AGCGTTTAAAGAACATCAGGG	0.502													T	169539922	G	T	169539922	3	4	104	1	0	0	0	0	1	0	0	0	9031	933	33	5	215	5	LRRIQ4	3	169539922	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	14466	169539922	28482508	1707	68321											
GPR160	26996	broad.mit.edu	37	chr3	169801785	169801785	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctctcttcagagaacTgctcttttcagtaccagtta	6	12	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:169801785T>C	uc003fgi.2	+	4	615	c.25T>C	c.(25-27)TGC>CGC	p.C9R	GPR160_uc010hwq.2_Missense_Mutation_p.C9R	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	9	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTCAGAGAACTGCTCTTTTCA	0.348													C	169801785	T	C	169801785	3	2	104	1	0	0	0	0	1	0	0	0	6664	1580	55	3	27	3	GPR160	3	169801785	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	261863	169801785	28220645	1708	68322											
RPL22L1	200916	broad.mit.edu	37	chr3	170584266	170584266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaccactcgaagccaatcaCgaagattgttcttcttaagg	7	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:170584266C>T	uc003fhc.3	-	4	361	c.272G>A	c.(271-273)CGT>CAT	p.R91H	RPL22L1_uc003fhb.3_RNA	NM_001099645	NP_001093115	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	91					translation	ribosome	structural constituent of ribosome				0	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			AAGCCAATCACGAAGATTGTT	0.348													T	170584266	C	T	170584266	3	4	104	1	0	0	0	0	1	0	0	0	13569	536	19	1	100	1	RPL22L1	3	170584266	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	782481	170584266	27438164	1709	68323											
TNIK	23043	broad.mit.edu	37	chr3	170797352	170797352	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagtccccaacagtgatccAgccttgtttcttttctactt	5	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:170797352A>G	uc003fhh.2	-	28	3748	c.3403T>C	c.(3403-3405)TGG>CGG	p.W1135R	TNIK_uc003fhi.2_Missense_Mutation_p.W1080R|TNIK_uc003fhj.2_Missense_Mutation_p.W1106R|TNIK_uc003fhk.2_Missense_Mutation_p.W1127R|TNIK_uc003fhl.2_Missense_Mutation_p.W1051R|TNIK_uc003fhm.2_Missense_Mutation_p.W1072R|TNIK_uc003fhn.2_Missense_Mutation_p.W1098R|TNIK_uc003fho.2_Missense_Mutation_p.W1043R|TNIK_uc003fhg.2_Missense_Mutation_p.W313R|TNIK_uc003fhp.2_Missense_Mutation_p.W67R	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	1135	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ACAGTGATCCAGCCTTGTTTC	0.353													G	170797352	A	G	170797352	3	3	104	1	0	0	0	0	1	0	0	0	16310	188	7	3	703	3	TNIK	3	170797352	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	213086	170797352	27225078	1710	68324											
TNIK	23043	broad.mit.edu	37	chr3	170805225	170805225	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggctctgctgcaccaggTcagggaggttgatgtggcca	15	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:170805225T>C	uc003fhh.2	-	24	3137	c.2792A>G	c.(2791-2793)GAC>GGC	p.D931G	TNIK_uc003fhi.2_Missense_Mutation_p.D876G|TNIK_uc003fhj.2_Missense_Mutation_p.D902G|TNIK_uc003fhk.2_Missense_Mutation_p.D923G|TNIK_uc003fhl.2_Missense_Mutation_p.D847G|TNIK_uc003fhm.2_Missense_Mutation_p.D868G|TNIK_uc003fhn.2_Missense_Mutation_p.D894G|TNIK_uc003fho.2_Missense_Mutation_p.D839G|TNIK_uc003fhg.2_Missense_Mutation_p.D109G	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	931	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTGCACCAGGTCAGGGAGGTT	0.587													C	170805225	T	C	170805225	3	2	104	1	0	0	0	0	1	0	0	0	16310	1667	58	3	1330	3	TNIK	3	170805225	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	7873	170805225	27217205	1711	68325											
TNIK	23043	broad.mit.edu	37	chr3	171087468	171087468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaattcaaagatccctgCggggtcctgaaagaaaataa	8	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:171087468C>T	uc003fhh.2	-	2	409	c.64G>A	c.(64-66)GCA>ACA	p.A22T	TNIK_uc003fhi.2_Missense_Mutation_p.A22T|TNIK_uc003fhj.2_Missense_Mutation_p.A22T|TNIK_uc003fhk.2_Missense_Mutation_p.A22T|TNIK_uc003fhl.2_Missense_Mutation_p.A22T|TNIK_uc003fhm.2_Missense_Mutation_p.A22T|TNIK_uc003fhn.2_Missense_Mutation_p.A22T|TNIK_uc003fho.2_Missense_Mutation_p.A22T|TNIK_uc003fhq.2_RNA	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	22					actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AAGATCCCTGCGGGGTCCTGA	0.338													T	171087468	C	T	171087468	3	4	104	1	0	0	0	0	1	0	0	0	16310	768	27	1	4146	1	TNIK	3	171087468	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	282243	171087468	26934962	1712	68326											
PLD1	5337	broad.mit.edu	37	chr3	171427395	171427395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagcagcatatgacccaaatCgatgatctttgagaaagttg	9	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:171427395C>T	uc003fhs.2	-	10	1132	c.1016G>A	c.(1015-1017)CGA>CAA	p.R339Q	PLD1_uc003fht.2_Missense_Mutation_p.R339Q	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	339					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TGACCCAAATCGATGATCTTT	0.393													T	171427395	C	T	171427395	3	4	104	1	0	0	0	0	1	0	0	0	12045	884	31	1	2280	1	PLD1	3	171427395	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	339927	171427395	26595035	1713	68327											
PLD1	5337	broad.mit.edu	37	chr3	171453312	171453312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatggggatgcggataaagGctttgtacttgagcagctct	14	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:171453312G>A	uc003fhs.2	-	4	520	c.404C>T	c.(403-405)GCC>GTC	p.A135V	PLD1_uc003fht.2_Missense_Mutation_p.A135V	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	135	PX.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GCGGATAAAGGCTTTGTACTT	0.333													A	171453312	G	A	171453312	3	1	104	1	0	0	0	0	1	0	0	0	12045	1203	42	2	2916	2	PLD1	3	171453312	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	25917	171453312	26569118	1714	68328											
ECT2	1894	broad.mit.edu	37	chr3	172491704	172491704	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatttagttatttcaagtAccattggaagaggaaggaca	9	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:172491704A>C	uc003fii.2	+	13	1485	c.1347A>C	c.(1345-1347)GTA>GTC	p.V449V	ECT2_uc010hwv.1_Silent_p.V480V|ECT2_uc003fih.2_Silent_p.V448V|ECT2_uc003fij.1_Silent_p.V449V|ECT2_uc003fik.1_Silent_p.V449V|ECT2_uc003fil.1_Silent_p.V480V	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	449	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TATTTCAAGTACCATTGGAAG	0.363													C	172491704	A	C	172491704	2	2	104	1	0	0	0	0	0	0	0	1	4901	378	14	5		5	ECT2	3	172491704	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1038392	172491704	25530726	1715	68329											
ECT2	1894	broad.mit.edu	37	chr3	172520655	172520655	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaacctatacaggctaAtcttttatcttctcaccgaa	3	11	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:172520655A>C	uc003fii.2	+	19	2036	c.1898A>C	c.(1897-1899)AAT>ACT	p.N633T	ECT2_uc010hwv.1_Missense_Mutation_p.N664T|ECT2_uc003fih.2_Missense_Mutation_p.N632T|ECT2_uc003fij.1_Missense_Mutation_p.N633T|ECT2_uc003fik.1_Missense_Mutation_p.N633T|ECT2_uc003fil.1_Missense_Mutation_p.N664T|ECT2_uc003fim.1_5'UTR	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	633					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATACAGGCTAATCTTTTATCT	0.353													C	172520655	A	C	172520655	3	2	104	1	0	0	0	0	1	0	0	0	4901	101	4	5	1968	5	ECT2	3	172520655	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	28951	172520655	25501775	1716	68330											
NLGN1	22871	broad.mit.edu	37	chr3	173996827	173996827	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaaagaacttgttgaccaaGatattcaaccagctcgatac	6	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:173996827G>T	uc003fio.1	+	6	1459	c.1036G>T	c.(1036-1038)GAT>TAT	p.D346Y	NLGN1_uc010hww.1_Missense_Mutation_p.D386Y|NLGN1_uc003fip.1_Missense_Mutation_p.D346Y	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	363	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGTTGACCAAGATATTCAACC	0.428													T	173996827	G	T	173996827	3	4	104	1	0	0	0	0	1	0	0	0	10461	942	33	5	1050	5	NLGN1	3	173996827	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1476172	173996827	24025603	1717	68331											
PIK3CA	5290	broad.mit.edu	37	chr3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtgcaacctacgtgaaTgtaaatattcgagacattga	8	7	0	3	rs121913284		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:178921553T>A	uc003fjk.2	+	5	1192	c.1035T>A	c.(1033-1035)AAT>AAA	p.N345K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	345					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N345K(29)|p.N345I(2)|p.N345S(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCTACGTGAATGTAAATATTC	0.308		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178921553	T	A	178921553	3	1	104	1	0	0	0	0	1	0	0	0	11913	1461	51	5	1049	5	PIK3CA	3	178921553	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	4924726	178921553	19100877	1718	68332											
ZNF639	51193	broad.mit.edu	37	chr3	179047499	179047499	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgagacagccagatttaaAatattttgacaacaaaggta	7	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:179047499A>C	uc003fjq.1	+	4	495	c.152A>C	c.(151-153)AAA>ACA	p.K51T	ZNF639_uc003fjr.1_Missense_Mutation_p.K51T	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	zinc finger protein 639	51					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CCAGATTTAAAATATTTTGAC	0.299													C	179047499	A	C	179047499	3	2	104	1	0	0	0	0	1	0	0	0	18053	14	1	5	158	5	ZNF639	3	179047499	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	125946	179047499	18974931	1719	68333											
ZNF639	51193	broad.mit.edu	37	chr3	179051273	179051273	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaagaaccgccagctaAactttgtaaaattcttgaca	7	8	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:179051273A>C	uc003fjq.1	+	6	864	c.521A>C	c.(520-522)AAA>ACA	p.K174T	ZNF639_uc003fjr.1_Missense_Mutation_p.K174T	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	zinc finger protein 639	174					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CCGCCAGCTAAACTTTGTAAA	0.418													C	179051273	A	C	179051273	3	2	104	1	0	0	0	0	1	0	0	0	18053	14	1	5	535	5	ZNF639	3	179051273	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	3774	179051273	18971157	1720	68334											
MFN1	55669	broad.mit.edu	37	chr3	179066690	179066690	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgtgctggctaagaaggcGattactgcaatctttgacca	10	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:179066690G>A	uc003fjs.2	+	2	177	c.51G>A	c.(49-51)GCG>GCA	p.A17A	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Silent_p.A45A	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	17	Cytoplasmic (Potential).			A -> G (in Ref. 1; AAK06840).	mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CTAAGAAGGCGATTACTGCAA	0.378													A	179066690	G	A	179066690	2	1	104	1	0	0	0	0	0	0	0	1	9523	1045	37	1		1	MFN1	3	179066690	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	15417	179066690	18955740	1721	68335											
MFN1	55669	broad.mit.edu	37	chr3	179082099	179082099	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattagtccaggcacagatgTcactacagagctggatagct	10	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:179082099T>G	uc003fjs.2	+	6	677	c.551T>G	c.(550-552)GTC>GGC	p.V184G	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.V212G|MFN1_uc010hxc.2_Missense_Mutation_p.V37G	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	184	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GGCACAGATGTCACTACAGAG	0.323													G	179082099	T	G	179082099	3	3	104	1	0	0	0	0	1	0	0	0	9523	1667	58	5	569	5	MFN1	3	179082099	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	15409	179082099	18940331	1722	68336											
MFN1	55669	broad.mit.edu	37	chr3	179096507	179096507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaagaggatattgtatttCctttttccctgggctggtct	9	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:179096507C>T	uc003fjs.2	+	14	1693	c.1567C>T	c.(1567-1569)CGT>TGT	p.R523C	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.P551S|MFN1_uc010hxc.2_Intron	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	523	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TATTGTATTTCCTTTTTCCCT	0.388													T	179096507	C	T	179096507	3	4	104	1	0	0	0	0	1	0	0	0	9523	855	30	4	1617	4	MFN1	3	179096507	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	14408	179096507	18925923	1723	68337											
GNB4	59345	broad.mit.edu	37	chr3	179132743	179132743	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttaagttatatatagagcaGatgttgtccaagcctccaca	7	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:179132743G>A	uc003fjv.3	-	6	640	c.360C>T	c.(358-360)ATC>ATT	p.I120I	GNB4_uc003fju.3_Silent_p.I31I	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	guanine nucleotide-binding protein, beta-4	120	WD 2.				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			skin(2)	2	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			ATATAGAGCAGATGTTGTCCA	0.473													A	179132743	G	A	179132743	2	1	104	1	0	0	0	0	0	0	0	1	6520	932	33	4		4	GNB4	3	179132743	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	36236	179132743	18889687	1724	68338											
MRPL47	57129	broad.mit.edu	37	chr3	179306726	179306726	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttaaaagaatttttgctttCtttctctctaaattttcctt	2	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:179306726C>A	uc003fjz.2	-	7	709	c.687G>T	c.(685-687)AAG>AAT	p.K229N	MRPL47_uc003fka.2_Missense_Mutation_p.K119N|MRPL47_uc003fkb.2_Missense_Mutation_p.K209N	NM_020409	NP_065142	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47 isoform a	229					translation	mitochondrial ribosome	structural constituent of ribosome				0	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TTTTTGCTTTCTTTCTCTCTA	0.323													A	179306726	C	A	179306726	3	1	104	1	0	0	0	0	1	0	0	0	9811	912	32	5	69	5	MRPL47	3	179306726	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	173983	179306726	18715704	1725	68339											
NDUFB5	4711	broad.mit.edu	37	chr3	179341795	179341795	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaattgacaaggaacttatTgatcattctccgaaagcaac	6	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:179341795T>G	uc003fkc.2	+	6	566	c.537T>G	c.(535-537)ATT>ATG	p.I179M	NDUFB5_uc003fkd.2_RNA|NDUFB5_uc003fke.2_Missense_Mutation_p.I127M	NM_002492	NP_002483	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	179					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			skin(1)	1	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	AGGAACTTATTGATCATTCTC	0.338													G	179341795	T	G	179341795	3	3	104	1	0	0	0	0	1	0	0	0	10284	1800	63	5	559	5	NDUFB5	3	179341795	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	35069	179341795	18680635	1726	68340											
CCDC39	339829	broad.mit.edu	37	chr3	180366038	180366038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtttcagagaggaacgaGttccttcaatttctgataaa	9	6	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:180366038G>A	uc010hxe.2	-	10	1392	c.1277C>T	c.(1276-1278)ACT>ATT	p.T426I	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	426	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGAGGAACGAGTTCCTTCAAT	0.368													A	180366038	G	A	180366038	3	1	104	1	0	0	0	0	1	0	0	0	2811	1029	36	4	1592	4	CCDC39	3	180366038	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1024243	180366038	17656392	1727	68341											
ATP11B	23200	broad.mit.edu	37	chr3	182635851	182635851	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttctataccaacgacaggAgcatcttgactctctccaca	5	14	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:182635851A>G	uc003flb.2	+	30	3750	c.3493A>G	c.(3493-3495)AGC>GGC	p.S1165G	ATP11B_uc010hxg.2_RNA	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1165	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CAACGACAGGAGCATCTTGAC	0.413													G	182635851	A	G	182635851	3	3	104	1	0	0	0	0	1	0	0	0	1120	304	11	3	3611	3	ATP11B	3	182635851	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2269813	182635851	15386579	1728	68342											
DCUN1D1	54165	broad.mit.edu	37	chr3	182679035	182679035	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatcctttttgtcctggatTctttgcaaaattaaaagtaa	5	6	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:182679035T>C	uc003fld.1	-	4	548	c.499A>G	c.(499-501)AAT>GAT	p.N167D	DCUN1D1_uc011bqn.1_Missense_Mutation_p.N24D	NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	RP42 homolog	167	DCUN1.					ubiquitin ligase complex	protein binding			ovary(1)	1	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TGTCCTGGATTCTTTGCAAAA	0.299													C	182679035	T	C	182679035	3	2	104	1	0	0	0	0	1	0	0	0	4313	1783	62	3	296	3	DCUN1D1	3	182679035	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	43184	182679035	15343395	1729	68343											
DCUN1D1	54165	broad.mit.edu	37	chr3	182681709	182681709	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgaactcctgtttggagaActcgcactgtgttgctgctc	10	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:182681709A>G	uc003fld.1	-	3	398	c.349T>C	c.(349-351)TTC>CTC	p.F117L	DCUN1D1_uc011bqn.1_Intron	NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	RP42 homolog	117	DCUN1.					ubiquitin ligase complex	protein binding			ovary(1)	1	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TGTTTGGAGAACTCGCACTGT	0.423													G	182681709	A	G	182681709	3	3	104	1	0	0	0	0	1	0	0	0	4313	43	2	3	450	3	DCUN1D1	3	182681709	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2674	182681709	15340721	1730	68344											
MCF2L2	23101	broad.mit.edu	37	chr3	182946141	182946141	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcagcacacttttccaactCttttagaaaagtcctagaaa	4	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:182946141C>A	uc003fli.1	-	18	2149	c.2059G>T	c.(2059-2061)GAG>TAG	p.E687*	MCF2L2_uc003flj.1_Nonsense_Mutation_p.E687*	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	687	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTTTCCAACTCTTTTAGAAAA	0.323													A	182946141	C	A	182946141	4	1	104	1	0	0	0	0	0	1	0	0	9380	922	32	5	1337	5	MCF2L2	3	182946141	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	264432	182946141	15076289	1731	68345											
B3GNT5	84002	broad.mit.edu	37	chr3	182988416	182988416	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcatcacagacactaaattCaagtctttacatagacgatg	7	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:182988416C>A	uc003flk.2	+	2	1360	c.830C>A	c.(829-831)TCA>TAA	p.S277*	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Nonsense_Mutation_p.S277*|B3GNT5_uc003flm.2_Nonsense_Mutation_p.S277*	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal	277	Lumenal (Potential).				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			ovary(1)	1	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ACACTAAATTCAAGTCTTTAC	0.468													A	182988416	C	A	182988416	4	1	104	1	0	0	0	0	0	1	0	0	1260	838	29	5	832	5	B3GNT5	3	182988416	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	42275	182988416	15034014	1732	68346											
KLHL6	89857	broad.mit.edu	37	chr3	183273245	183273245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtcagagcgttttccattCgcagggtttccaggccattc	10	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:183273245C>T	uc003flr.2	-	1	255	c.197G>A	c.(196-198)CGA>CAA	p.R66Q	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Missense_Mutation_p.R64Q	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	66										haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GTTTTCCATTCGCAGGGTTTC	0.493													T	183273245	C	T	183273245	3	4	104	1	0	0	0	0	1	0	0	0	8393	884	31	1	1696	1	KLHL6	3	183273245	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	284829	183273245	14749185	1733	68347											
YEATS2	55689	broad.mit.edu	37	chr3	183528314	183528314	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaggccatttgcaacatTccttttctggacttcctcac	5	15	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:183528314T>C	uc003fly.2	+	31	4407	c.4212T>C	c.(4210-4212)ATT>ATC	p.I1404I		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1404					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTTGCAACATTCCTTTTCTGG	0.448													C	183528314	T	C	183528314	2	2	104	1	0	0	0	0	0	0	0	1	17469	1771	62	3		3	YEATS2	3	183528314	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	255069	183528314	14494116	1734	68348											
EIF2B5	8893	broad.mit.edu	37	chr3	183854515	183854515	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagctgctcaaatcaaagAacatttactgtaaggccctg	8	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:183854515A>C	uc003fmp.2	+	2	675	c.311A>C	c.(310-312)GAA>GCA	p.E104A	EIF2B5_uc010hxs.2_Missense_Mutation_p.E104A|EIF2B5_uc003fmq.2_5'UTR	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B,	104					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			ovary(5)	5	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CAAATCAAAGAACATTTACTG	0.413													C	183854515	A	C	183854515	3	2	104	1	0	0	0	0	1	0	0	0	5004	246	9	5	317	5	EIF2B5	3	183854515	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	326201	183854515	14167915	1735	68349											
EIF2B5	8893	broad.mit.edu	37	chr3	183856022	183856022	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctggattgtcatatcagcatCtgttctcctcaggtgagctc	9	11	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:183856022C>A	uc003fmp.2	+	5	1117	c.753C>A	c.(751-753)ATC>ATA	p.I251I	EIF2B5_uc003fmq.2_Translation_Start_Site	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B,	251					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			ovary(5)	5	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ATATCAGCATCTGTTCTCCTC	0.473													A	183856022	C	A	183856022	2	1	104	1	0	0	0	0	0	0	0	1	5004	903	32	5		5	EIF2B5	3	183856022	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1507	183856022	14166408	1736	68350											
DVL3	1857	broad.mit.edu	37	chr3	183884050	183884050	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccaggagatatgttgttAcaggtatcagtgcccatcct	11	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:183884050A>G	uc003fms.2	+	8	1040	c.900A>G	c.(898-900)TTA>TTG	p.L300L	DVL3_uc011bqw.1_Silent_p.L300L|DVL3_uc003fmt.2_5'UTR|DVL3_uc003fmu.2_Silent_p.L132L	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	300	PDZ.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			ATATGTTGTTACAGGTATCAG	0.577													G	183884050	A	G	183884050	2	3	104	1	0	0	0	0	0	0	0	1	4837	388	14	3		3	DVL3	3	183884050	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	28028	183884050	14138380	1737	68351											
EIF4G1	1981	broad.mit.edu	37	chr3	184041688	184041688	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacgcctcaaaggggtcattGacctcatttttgagaaggcc	10	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:184041688G>T	uc003fnp.2	+	16	2593	c.2395G>T	c.(2395-2397)GAC>TAC	p.D799Y	EIF4G1_uc003fno.1_Missense_Mutation_p.D740Y|EIF4G1_uc010hxw.1_Missense_Mutation_p.D635Y|EIF4G1_uc003fnt.2_Missense_Mutation_p.D510Y|EIF4G1_uc003fnq.2_Missense_Mutation_p.D712Y|EIF4G1_uc003fnr.2_Missense_Mutation_p.D635Y|EIF4G1_uc010hxx.2_Missense_Mutation_p.D806Y|EIF4G1_uc003fns.2_Missense_Mutation_p.D759Y|EIF4G1_uc010hxy.2_Missense_Mutation_p.D806Y|EIF4G1_uc003fnv.3_Missense_Mutation_p.D800Y|EIF4G1_uc003fnu.3_Missense_Mutation_p.D799Y|EIF4G1_uc003fnw.2_Missense_Mutation_p.D806Y|EIF4G1_uc003fnx.2_Missense_Mutation_p.D604Y|EIF4G1_uc003fny.3_Missense_Mutation_p.D603Y|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	799	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGGGTCATTGACCTCATTTT	0.522													T	184041688	G	T	184041688	3	4	104	1	0	0	0	0	1	0	0	0	5036	1290	45	5	2449	5	EIF4G1	3	184041688	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	157638	184041688	13980742	1738	68352											
THPO	7066	broad.mit.edu	37	chr3	184090679	184090679	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggttcagcagaccaggaatCttggctctgaatccctgctg	11	11	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:184090679C>A	uc003fol.1	-	6	899	c.684G>T	c.(682-684)AAG>AAT	p.K228N	THPO_uc003fom.1_Missense_Mutation_p.K224N|THPO_uc003fon.2_Missense_Mutation_p.D190Y|THPO_uc011bro.1_Missense_Mutation_p.D186Y|THPO_uc003fop.2_Missense_Mutation_p.D186Y|THPO_uc011brp.1_Intron|THPO_uc011brq.1_Intron|THPO_uc003for.1_RNA|THPO_uc003fos.1_RNA	NM_000460	NP_000451	P40225	TPO_HUMAN	thrombopoietin precursor	228					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			ovary(1)	1	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GACCAGGAATCTTGGCTCTGA	0.517													A	184090679	C	A	184090679	3	1	104	1	0	0	0	0	1	0	0	0	15869	913	32	5	381	5	THPO	3	184090679	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	48991	184090679	13931751	1739	68353											
CHRD	8646	broad.mit.edu	37	chr3	184102385	184102385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgctgctgcagaatgagCtcttcctgaacgtgggcacc	11	11	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:184102385C>T	uc003fov.2	+	13	1747	c.1501C>T	c.(1501-1503)CTC>TTC	p.L501F	CHRD_uc003fow.2_Missense_Mutation_p.L131F|CHRD_uc003fox.2_Missense_Mutation_p.L501F|CHRD_uc003foy.2_Missense_Mutation_p.L131F|CHRD_uc010hyc.2_Missense_Mutation_p.L91F|CHRD_uc011brr.1_Missense_Mutation_p.L131F	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	501	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAGAATGAGCTCTTCCTGAA	0.647													T	184102385	C	T	184102385	3	4	104	1	0	0	0	0	1	0	0	0	3372	797	28	2	1551	2	CHRD	3	184102385	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	11706	184102385	13920045	1740	68354											
EPHB3	2049	broad.mit.edu	37	chr3	184298943	184298943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcaaggtcattgccagcGctcagtctgggttagtacct	11	12	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:184298943G>A	uc003foz.2	+	14	3159	c.2722G>A	c.(2722-2724)GCT>ACT	p.A908T		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	908	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CATTGCCAGCGCTCAGTCTGG	0.572													A	184298943	G	A	184298943	3	1	104	1	0	0	0	0	1	0	0	0	5176	1087	38	1	2776	1	EPHB3	3	184298943	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	196558	184298943	13723487	1741	68355											
EHHADH	1962	broad.mit.edu	37	chr3	184953175	184953175	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccaccacgggcttctcatttCtctgtatttcatctactaca	4	14	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:184953175C>A	uc003fpf.2	-	3	281	c.254G>T	c.(253-255)AGA>ATA	p.R85I	EHHADH_uc011brs.1_5'UTR	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	85	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	CTTCTCATTTCTCTGTATTTC	0.517													A	184953175	C	A	184953175	3	1	104	1	0	0	0	0	1	0	0	0	4982	913	32	5	1937	5	EHHADH	3	184953175	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	654232	184953175	13069255	1742	68356											
MAP3K13	9175	broad.mit.edu	37	chr3	185161334	185161334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggcaggaagatcacacctcGattgctagtagactggtcca	11	10	1	2	rs141609876		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:185161334G>A	uc010hyf.2	+	5	1027	c.761G>A	c.(760-762)CGA>CAA	p.R254Q	MAP3K13_uc011brt.1_Missense_Mutation_p.R47Q|MAP3K13_uc003fph.3_Missense_Mutation_p.R22Q|MAP3K13_uc011bru.1_Missense_Mutation_p.R110Q|MAP3K13_uc003fpi.2_Missense_Mutation_p.R254Q|MAP3K13_uc010hyg.2_Intron	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	254	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			ATCACACCTCGATTGCTAGTA	0.433													A	185161334	G	A	185161334	3	1	104	1	0	0	0	0	1	0	0	0	9247	1058	37	1	771	1	MAP3K13	3	185161334	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	208159	185161334	12861096	1743	68357											
IGF2BP2	10644	broad.mit.edu	37	chr3	185416116	185416116	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggtgaggagggatgtttcGaatctgaattttcctgctcc	12	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:185416116G>A	uc003fpo.2	-	3	338	c.259C>T	c.(259-261)CGA>TGA	p.R87*	IGF2BP2_uc010hyi.2_Nonsense_Mutation_p.R24*|IGF2BP2_uc010hyj.2_Nonsense_Mutation_p.R24*|IGF2BP2_uc010hyk.2_5'UTR|IGF2BP2_uc010hyl.2_Nonsense_Mutation_p.R24*|IGF2BP2_uc003fpp.2_Nonsense_Mutation_p.R87*|IGF2BP2_uc003fpq.2_Nonsense_Mutation_p.R86*	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding	87	RRM 2.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity				0	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGGATGTTTCGAATCTGAATT	0.398													A	185416116	G	A	185416116	4	1	104	1	0	0	0	0	0	1	0	0	7574	1066	37	1	1596	1	IGF2BP2	3	185416116	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	254782	185416116	12606314	1744	68358											
CRYGS	1427	broad.mit.edu	37	chr3	186257252	186257252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtacccagcaaagttgggCctttcataaacagcccaggt	9	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:186257252C>T	uc003fqe.2	-	2	208	c.156G>A	c.(154-156)AGG>AGA	p.R52R	CRYGS_uc003fqf.2_Silent_p.R52R	NM_017541	NP_060011	P22914	CRBS_HUMAN	crystallin, gamma S	52	Beta/gamma crystallin 'Greek key' 2.			R -> T (in Ref. 2; AA sequence).			structural constituent of eye lens				0	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		CAAAGTTGGGCCTTTCATAAA	0.522													T	186257252	C	T	186257252	2	4	104	1	0	0	0	0	0	0	0	1	3919	738	26	2		2	CRYGS	3	186257252	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	841136	186257252	11765178	1745	68359											
KNG1	3827	broad.mit.edu	37	chr3	186445091	186445091	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgaattgttccaaagagaaTtttctgttcttaactccaga	6	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:186445091T>G	uc011bsa.1	+	5	842	c.630T>G	c.(628-630)AAT>AAG	p.N210K	KNG1_uc003fqr.2_Missense_Mutation_p.N210K	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	kininogen 1 isoform 1	210	Cystatin 2.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			skin(1)	1	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	CCAAAGAGAATTTTCTGTTCT	0.348													G	186445091	T	G	186445091	3	3	104	1	0	0	0	0	1	0	0	0	8427	1490	52	5	648	5	KNG1	3	186445091	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	187839	186445091	11577339	1746	68360											
KNG1	3827	broad.mit.edu	37	chr3	186459654	186459654	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaacaccaagggggccatgTccttgaccatggacataagc	11	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:186459654T>C	uc011bsa.1	+	10	1681	c.1469T>C	c.(1468-1470)GTC>GCC	p.V490A	KNG1_uc003fqr.2_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	kininogen 1 isoform 1	490	|His-rich.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			skin(1)	1	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GGGGGCCATGTCCTTGACCAT	0.443													C	186459654	T	C	186459654	3	2	104	1	0	0	0	0	1	0	0	0	8427	1667	58	3	1507	3	KNG1	3	186459654	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	14563	186459654	11562776	1747	68361											
RTP4	64108	broad.mit.edu	37	chr3	187088673	187088673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacatcccagggtcaggtgCgtatgaggctctttggccaa	14	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:187088673C>T	uc003frm.2	+	2	315	c.253C>T	c.(253-255)CGT>TGT	p.R85C		NM_022147	NP_071430	Q96DX8	RTP4_HUMAN	28kD interferon responsive protein	85	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding				0	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GGGTCAGGTGCGTATGAGGCT	0.567													T	187088673	C	T	187088673	3	4	104	1	0	0	0	0	1	0	0	0	13736	768	27	1	259	1	RTP4	3	187088673	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	629019	187088673	10933757	1748	68362											
RTP4	64108	broad.mit.edu	37	chr3	187088944	187088944	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatgacaaagccgtccaAatccctactcccccacctaa	4	18	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:187088944A>C	uc003frm.2	+	2	586	c.524A>C	c.(523-525)AAA>ACA	p.K175T		NM_022147	NP_071430	Q96DX8	RTP4_HUMAN	28kD interferon responsive protein	175	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding				0	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		AAGCCGTCCAAATCCCTACTC	0.517													C	187088944	A	C	187088944	3	2	104	1	0	0	0	0	1	0	0	0	13736	14	1	5	530	5	RTP4	3	187088944	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	271	187088944	10933486	1749	68363											
RTP2	344892	broad.mit.edu	37	chr3	187416459	187416459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctcctccagcagcttctCgctgggcttccagtgaacga	9	16	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:187416459C>T	uc003fro.1	-	2	934	c.505G>A	c.(505-507)GAG>AAG	p.E169K		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	receptor transporting protein 2	169	Cytoplasmic (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding				0	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		AGCAGCTTCTCGCTGGGCTTC	0.647													T	187416459	C	T	187416459	3	4	104	1	0	0	0	0	1	0	0	0	13734	893	31	1	176	1	RTP2	3	187416459	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	327515	187416459	10605971	1750	68364											
TP63	8626	broad.mit.edu	37	chr3	189349237	189349237	+	Translation_Start_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggctttatatctatatatAcacaggtatatgtgtatatt	6	6	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:189349237A>G	uc003fry.2	+	1	22	c.-67A>G	c.(-69--65)ATACA>ATGCA		TP63_uc003frx.2_Translation_Start_Site|TP63_uc003frz.2_Translation_Start_Site|TP63_uc010hzc.1_Translation_Start_Site	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1						anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ATCTATATATACACAGGTATA	0.358									Hay-Wells_syndrome	HNSCC(45;0.13)			G	189349237	A	G	189349237	1	3	104	1	0	0	0	0	0	0	0	0	16389	406	14	3		3	TP63	3	189349237	Translation_Start_Site	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1932778	189349237	8673193	1751	68365											
TP63	8626	broad.mit.edu	37	chr3	189526302	189526302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagtcgagcaccgccaagtCggccacctggacggtaagag	14	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:189526302C>T	uc003fry.2	+	4	655	c.566C>T	c.(565-567)TCG>TTG	p.S189L	TP63_uc003frx.2_Missense_Mutation_p.S189L|TP63_uc003frz.2_Missense_Mutation_p.S189L|TP63_uc010hzc.1_Missense_Mutation_p.S189L|TP63_uc003fsa.2_Missense_Mutation_p.S95L|TP63_uc003fsb.2_Missense_Mutation_p.S95L|TP63_uc003fsc.2_Missense_Mutation_p.S95L|TP63_uc003fsd.2_Missense_Mutation_p.S95L|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Missense_Mutation_p.S70L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	189					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACCGCCAAGTCGGCCACCTGG	0.622									Hay-Wells_syndrome	HNSCC(45;0.13)			T	189526302	C	T	189526302	3	4	104	1	0	0	0	0	1	0	0	0	16389	893	31	1	626	1	TP63	3	189526302	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	177065	189526302	8496128	1752	68366											
LEPREL1	55214	broad.mit.edu	37	chr3	189691761	189691761	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtatggggtgaagttttTcctctgtatccatcaccaac	10	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:189691761T>C	uc011bsk.1	-	10	1873	c.1485A>G	c.(1483-1485)GGA>GGG	p.G495G	LEPREL1_uc003fsg.2_Silent_p.G314G	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	495					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTGAAGTTTTTCCTCTGTATC	0.323													C	189691761	T	C	189691761	2	2	104	1	0	0	0	0	0	0	0	1	8730	1770	62	3		3	LEPREL1	3	189691761	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	165459	189691761	8330669	1753	68367											
LEPREL1	55214	broad.mit.edu	37	chr3	189700850	189700850	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttaccttctcttaggtctcGatctatcttgggtgatagct	8	10	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:189700850G>A	uc011bsk.1	-	8	1697	c.1309C>T	c.(1309-1311)CGA>TGA	p.R437*	LEPREL1_uc003fsg.2_Nonsense_Mutation_p.R256*	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	437					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTTAGGTCTCGATCTATCTTG	0.448													A	189700850	G	A	189700850	4	1	104	1	0	0	0	0	0	1	0	0	8730	1066	37	1	849	1	LEPREL1	3	189700850	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	9089	189700850	8321580	1754	68368											
LEPREL1	55214	broad.mit.edu	37	chr3	189702354	189702354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttaccgattctcatcctgtCgtcctccatatctgatccaa	4	15	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:189702354C>T	uc011bsk.1	-	7	1602	c.1214G>A	c.(1213-1215)CGA>CAA	p.R405Q	LEPREL1_uc003fsg.2_Missense_Mutation_p.R224Q	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	405					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTCATCCTGTCGTCCTCCATA	0.318													T	189702354	C	T	189702354	3	4	104	1	0	0	0	0	1	0	0	0	8730	884	31	1	948	1	LEPREL1	3	189702354	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1504	189702354	8320076	1755	68369											
LEPREL1	55214	broad.mit.edu	37	chr3	189838069	189838069	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcccgctgcaggtagttgTagggcactctgcgctggaag	16	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:189838069T>G	uc011bsk.1	-	1	840	c.452A>C	c.(451-453)TAC>TCC	p.Y151S	LEPREL1_uc003fsg.2_Intron	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	151	TPR 2.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CAGGTAGTTGTAGGGCACTCT	0.662													G	189838069	T	G	189838069	3	3	104	1	0	0	0	0	1	0	0	0	8730	1638	57	5	1734	5	LEPREL1	3	189838069	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	135715	189838069	8184361	1756	68370											
IL1RAP	3556	broad.mit.edu	37	chr3	190326850	190326850	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaaagacagctgtttcaaTtcccccatgaaactcccagt	5	13	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:190326850T>C	uc003fsm.1	+	5	623	c.417T>C	c.(415-417)AAT>AAC	p.N139N	IL1RAP_uc003fsk.2_Silent_p.N139N|IL1RAP_uc003fsl.2_Silent_p.N139N|IL1RAP_uc010hzf.2_5'UTR|IL1RAP_uc010hzg.1_Silent_p.N139N|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Silent_p.N139N|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Silent_p.N139N	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	139	Extracellular (Potential).				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GCTGTTTCAATTCCCCCATGA	0.368													C	190326850	T	C	190326850	2	2	104	1	0	0	0	0	0	0	0	1	7660	1490	52	3		3	IL1RAP	3	190326850	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	488781	190326850	7695580	1757	68371											
UTS2D	257313	broad.mit.edu	37	chr3	190993102	190993102	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taggacgtctcagaatccttCtcctccactagctgttcttt	6	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:190993102C>T	uc003fsu.2	-	8	1060	c.273G>A	c.(271-273)GAG>GAA	p.E91E		NM_198152	NP_937795	Q765I0	UTS2B_HUMAN	urotensin 2 domain containing precursor	91						extracellular region	hormone activity				0	all_cancers(143;1.77e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000214)		CAGAATCCTTCTCCTCCACTA	0.333													T	190993102	C	T	190993102	2	4	104	1	0	0	0	0	0	0	0	1	17102	912	32	4		4	UTS2D	3	190993102	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	666252	190993102	7029328	1758	68372											
C3orf59	151963	broad.mit.edu	37	chr3	192517304	192517304	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaccaagagggtaaagtccAtatcatagtcagtaccccgg	10	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:192517304A>G	uc011bsp.1	-	2	668	c.347T>C	c.(346-348)ATG>ACG	p.M116T		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	hypothetical protein LOC151963	116											0	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)		GGTAAAGTCCATATCATAGTC	0.542													G	192517304	A	G	192517304	3	3	104	1	0	0	0	0	1	0	0	0	2237	217	8	3	1132	3	C3orf59	3	192517304	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1524202	192517304	5505126	1759	68373											
ATP13A4	84239	broad.mit.edu	37	chr3	193182749	193182749	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcaaagcagacaaggtTtaactgtccacatacgttga	8	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:193182749T>G	uc003ftd.2	-	12	1549	c.1441A>C	c.(1441-1443)AAC>CAC	p.N481H	ATP13A4_uc003fte.1_Missense_Mutation_p.N481H|ATP13A4_uc011bsr.1_5'UTR|ATP13A4_uc010hzi.2_RNA|ATP13A4_uc003ftf.3_Missense_Mutation_p.N187H	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	481	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CAGACAAGGTTTAACTGTCCA	0.433													G	193182749	T	G	193182749	3	3	104	1	0	0	0	0	1	0	0	0	1126	1841	64	5	2225	5	ATP13A4	3	193182749	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	665445	193182749	4839681	1760	68374											
ATP13A4	84239	broad.mit.edu	37	chr3	193232644	193232644	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttccggcagccttgagtcCgatagccaaatatctcctgg	9	12	1	1	rs141456857		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:193232644C>A	uc003ftd.2	-	2	185	c.77G>T	c.(76-78)CGG>CTG	p.R26L	ATP13A4_uc003fte.1_Missense_Mutation_p.R26L|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	26	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCCTTGAGTCCGATAGCCAAA	0.418													A	193232644	C	A	193232644	3	1	104	1	0	0	0	0	1	0	0	0	1126	652	23	5	3629	5	ATP13A4	3	193232644	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	49895	193232644	4789786	1761	68375											
ATP13A3	79572	broad.mit.edu	37	chr3	194140694	194140694	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcacagaaaaaacaaaaaAatctggaaaagacagcaaaa	5	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:194140694A>C	uc003fty.3	-	30	3718	c.3316T>G	c.(3316-3318)TTT>GTT	p.F1106V	ATP13A3_uc003ftx.3_Translation_Start_Site	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	1106	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AAAACAAAAAAATCTGGAAAA	0.294													C	194140694	A	C	194140694	3	2	104	1	0	0	0	0	1	0	0	0	1125	14	1	5	376	5	ATP13A3	3	194140694	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	908050	194140694	3881736	1762	68376											
ATP13A3	79572	broad.mit.edu	37	chr3	194169269	194169269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcccacaaaacaaagtatgtCgtttatgtgtttctggatta	7	7	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:194169269C>T	uc003fty.3	-	11	1469	c.1067G>A	c.(1066-1068)CGA>CAA	p.R356Q	ATP13A3_uc003ftz.1_Missense_Mutation_p.R62Q	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	356					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CAAAGTATGTCGTTTATGTGT	0.368													T	194169269	C	T	194169269	3	4	104	1	0	0	0	0	1	0	0	0	1125	884	31	1	2701	1	ATP13A3	3	194169269	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	28575	194169269	3853161	1763	68377											
TMEM44	93109	broad.mit.edu	37	chr3	194349195	194349195	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacgcagcacacagtgccgActggtcctgtctgggtttct	12	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:194349195A>C	uc010hzn.2	-	2	350	c.181T>G	c.(181-183)TCG>GCG	p.S61A	TMEM44_uc003fue.2_Missense_Mutation_p.S61A|TMEM44_uc003fud.2_Missense_Mutation_p.S61A|TMEM44_uc003fuf.2_Missense_Mutation_p.S61A|TMEM44_uc011bsv.1_Missense_Mutation_p.S61A|TMEM44_uc003fuh.1_RNA	NM_001011655	NP_001011655	Q2T9K0	TMM44_HUMAN	transmembrane protein 44 isoform b	61	Cytoplasmic (Potential).					integral to membrane					0	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CACAGTGCCGACTGGTCCTGT	0.577													C	194349195	A	C	194349195	3	2	104	1	0	0	0	0	1	0	0	0	16165	275	10	5	1320	5	TMEM44	3	194349195	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	179926	194349195	3673235	1764	68378											
TNK2	10188	broad.mit.edu	37	chr3	195613863	195613863	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaccttactcatccacgaCttgcgtttgcacaaggcctt	6	16	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:195613863C>A	uc003fvu.1	-	3	762	c.219G>T	c.(217-219)AAG>AAT	p.K73N	TNK2_uc003fvs.1_Missense_Mutation_p.K105N|TNK2_uc003fvt.1_Missense_Mutation_p.K136N|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_5'Flank|TNK2_uc010hzx.1_Missense_Mutation_p.K87N	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	73	SAM-like domain.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCATCCACGACTTGCGTTTGC	0.567													A	195613863	C	A	195613863	3	1	104	1	0	0	0	0	1	0	0	0	16315	564	20	5	2998	5	TNK2	3	195613863	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1264668	195613863	2408567	1765	68379											
TFRC	7037	broad.mit.edu	37	chr3	195787075	195787075	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcattgttttctcaataagCgtatacaacagtgggctggc	10	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:195787075C>T	uc003fvz.3	-	14	1795	c.1512G>A	c.(1510-1512)ACG>ACA	p.T504T	TFRC_uc003fwa.3_Silent_p.T504T|TFRC_uc010hzy.2_Silent_p.T423T|TFRC_uc011btr.1_Silent_p.T222T	NM_003234	NP_003225	P02786	TFR1_HUMAN	transferrin receptor	504	Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			ovary(3)	3	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TCTCAATAAGCGTATACAACA	0.343			T	BCL6	NHL								T	195787075	C	T	195787075	2	4	104	1	0	0	0	0	0	0	0	1	15809	755	27	1		1	TFRC	3	195787075	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	173212	195787075	2235355	1766	68380											
OSTalpha	200931	broad.mit.edu	37	chr3	195955063	195955063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggaggcagtgctgaggaCgctgagggacaccccgatga	17	9	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:195955063C>T	uc003fwd.2	+	5	641	c.440C>T	c.(439-441)ACG>ATG	p.T147M	OSTalpha_uc010iac.1_Missense_Mutation_p.T31M|OSTalpha_uc003fwe.2_Missense_Mutation_p.T14M	NM_152672	NP_689885	Q86UW1	OSTA_HUMAN	organic solute transporter alpha	147						integral to membrane|plasma membrane	transporter activity			ovary(1)	1	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06)	GBM - Glioblastoma multiforme(46;0.00202)		GTGCTGAGGACGCTGAGGGAC	0.502													T	195955063	C	T	195955063	3	4	104	1	0	0	0	0	1	0	0	0	11300	536	19	1	458	1	OSTalpha	3	195955063	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	167988	195955063	2067367	1767	68381											
RNF168	165918	broad.mit.edu	37	chr3	196214416	196214416	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcttcactggctttgttttCttcttcctcgctggcccgtc	7	14	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:196214416C>A	uc003fwq.2	-	3	950	c.412G>T	c.(412-414)GAA>TAA	p.E138*	RNF168_uc010iah.2_5'UTR	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	ring finger protein 168	138	Glu-rich.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GCTTTGTTTTCTTCTTCCTCG	0.433													A	196214416	C	A	196214416	4	1	104	1	0	0	0	0	0	1	0	0	13459	922	32	5	1319	5	RNF168	3	196214416	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	259353	196214416	1808014	1768	68382											
WDR53	348793	broad.mit.edu	37	chr3	196287914	196287914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctctgaggcctctgaggccGaaaagccactgaggagcaga	14	11	2	4	rs139966326		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:196287914G>A	uc003fwt.2	-	3	904	c.433C>T	c.(433-435)CGG>TGG	p.R145W		NM_182627	NP_872433	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	145	WD 3.									breast(1)|skin(1)	2	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CTCTGAGGCCGAAAAGCCACT	0.463													A	196287914	G	A	196287914	3	1	104	1	0	0	0	0	1	0	0	0	17302	1057	37	1	651	1	WDR53	3	196287914	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	73498	196287914	1734516	1769	68383											
WDR53	348793	broad.mit.edu	37	chr3	196288018	196288018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagagtcgtcagcagaaGccagcaggttttccgtttga	11	12	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:196288018G>A	uc003fwt.2	-	3	800	c.329C>T	c.(328-330)GCT>GTT	p.A110V		NM_182627	NP_872433	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	110	WD 2.									breast(1)|skin(1)	2	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GTCAGCAGAAGCCAGCAGGTT	0.418													A	196288018	G	A	196288018	3	1	104	1	0	0	0	0	1	0	0	0	17302	971	34	2	755	2	WDR53	3	196288018	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	104	196288018	1734412	1770	68384											
FBXO45	200933	broad.mit.edu	37	chr3	196311019	196311019	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcagataggagaaagaattCgagtcatcttggacatggaa	12	5	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:196311019C>T	uc010iai.2	+	3	822	c.691C>T	c.(691-693)CGA>TGA	p.R231*		NM_001105573	NP_001099043	P0C2W1	FBSP1_HUMAN	F-box protein 45	231	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			skin(1)	1	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		AGAAAGAATTCGAGTCATCTT	0.393													T	196311019	C	T	196311019	4	4	104	1	0	0	0	0	0	1	0	0	5754	876	31	1	701	1	FBXO45	3	196311019	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	23001	196311019	1711411	1771	68385											
PIGX	54965	broad.mit.edu	37	chr3	196457961	196457961	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaagatgaagtataaaTcagtaagctaatgttttatg	9	3	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:196457961T>G	uc010iaj.2	+	6	843	c.562T>G	c.(562-564)TCA>GCA	p.S188A	PIGX_uc003fwx.3_Missense_Mutation_p.S170A|PIGX_uc011btx.1_RNA	NM_017861	NP_060331	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	211	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane					0	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		GAAGTATAAATCAGTAAGCTA	0.373													G	196457961	T	G	196457961	3	3	104	1	0	0	0	0	1	0	0	0	11903	1435	50	5	707	5	PIGX	3	196457961	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	146942	196457961	1564469	1772	68386											
DLG1	1739	broad.mit.edu	37	chr3	196812540	196812540	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcatcatcagaagcattAataacatggaggatatctcc	6	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:196812540A>C	uc003fxo.3	-	17	2038	c.1848T>G	c.(1846-1848)ATT>ATG	p.I616M	DLG1_uc011bub.1_Missense_Mutation_p.I500M|DLG1_uc011buc.1_Missense_Mutation_p.I500M|DLG1_uc011bud.1_Missense_Mutation_p.I299M|DLG1_uc003fxn.3_Missense_Mutation_p.I616M|DLG1_uc011bue.1_Missense_Mutation_p.I583M|DLG1_uc010ial.2_Missense_Mutation_p.I616M|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.I583M	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	616	SH3.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CAGAAGCATTAATAACATGGA	0.463													C	196812540	A	C	196812540	3	2	104	1	0	0	0	0	1	0	0	0	4554	358	13	5	1010	5	DLG1	3	196812540	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	354579	196812540	1209890	1773	68387											
DLG1	1739	broad.mit.edu	37	chr3	196888575	196888575	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggacagggatcacagggAcagtgggaggagagggaaga	20	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr3:196888575A>G	uc003fxo.3	-	6	708	c.518T>C	c.(517-519)GTC>GCC	p.V173A	DLG1_uc011bub.1_Intron|DLG1_uc011buc.1_Intron|DLG1_uc011bud.1_Intron|DLG1_uc003fxn.3_Missense_Mutation_p.V173A|DLG1_uc011bue.1_Intron|DLG1_uc010ial.2_Missense_Mutation_p.V173A|DLG1_uc011buf.1_Intron|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Intron|DLG1_uc010ian.2_Intron	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	173	Interaction with SH3 domains.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GATCACAGGGACAGTGGGAGG	0.383													G	196888575	A	G	196888575	3	3	104	1	0	0	0	0	1	0	0	0	4554	275	10	3	2384	3	DLG1	3	196888575	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	76035	196888575	1133855	1774	68388											
ZNF718	255403	broad.mit.edu	37	chr4	155467	155467	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agactttgctaaacataagaGaattcatacaggagagaaac	8	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:155467G>A	uc003fzt.3	+	8	1125	c.992G>A	c.(991-993)AGA>AAA	p.R331K	ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_Missense_Mutation_p.E111K	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN	zinc finger protein 718	331	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AAACATAAGAGAATTCATACA	0.388													A	155467	G	A	155467	3	1	104	1	0	0	0	0	1	0	0	0	18117	942	33	4	1006	4	ZNF718	4	155467	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08		155467	190998809	1775	68389											
ZNF721	170960	broad.mit.edu	37	chr4	435862	435862	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtatgaatcctcttatgTttagcaaagcttgaggatga	9	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:435862T>G	uc003gag.2	-	3	3085	c.2394A>C	c.(2392-2394)AAA>AAC	p.K798N	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.K830N|ZNF721_uc010ibe.2_Missense_Mutation_p.K786N	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	798						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						TCCTCTTATGTTTAGCAAAGC	0.368													G	435862	T	G	435862	3	3	104	1	0	0	0	0	1	0	0	0	18119	1722	60	5	381	5	ZNF721	4	435862	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	280395	435862	190718414	1776	68390											
ZNF721	170960	broad.mit.edu	37	chr4	437198	437198	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctctccagtatgaattCtcctatgtacgtaaaggttt	7	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:437198C>A	uc003gag.2	-	3	1749	c.1058G>T	c.(1057-1059)AGA>ATA	p.R353I	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.R385I|ZNF721_uc010ibe.2_Missense_Mutation_p.R341I	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	353						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						AGTATGAATTCTCCTATGTAC	0.423													A	437198	C	A	437198	3	1	104	1	0	0	0	0	1	0	0	0	18119	913	32	5	1717	5	ZNF721	4	437198	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1336	437198	190717078	1777	68391											
ZNF721	170960	broad.mit.edu	37	chr4	437786	437786	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttctctccagtatgaattTtcttgtgttgattcaggtct	8	7	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:437786T>G	uc003gag.2	-	3	1161	c.470A>C	c.(469-471)AAA>ACA	p.K157T	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.K189T|ZNF721_uc010ibe.2_Missense_Mutation_p.K145T	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	157						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						AGTATGAATTTTCTTGTGTTG	0.393													G	437786	T	G	437786	3	3	104	1	0	0	0	0	1	0	0	0	18119	1841	64	5	2305	5	ZNF721	4	437786	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	588	437786	190716490	1778	68392											
ZNF721	170960	broad.mit.edu	37	chr4	466372	466372	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttatcctcacctagggagAccaggtttctgtagttctcc	9	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:466372A>G	uc003gag.2	-	2	717	c.26T>C	c.(25-27)GTC>GCC	p.V9A	ABCA11P_uc003gac.2_5'UTR|ABCA11P_uc003gad.2_RNA|ABCA11P_uc011buv.1_Missense_Mutation_p.V41A|ABCA11P_uc003gae.2_5'UTR|ABCA11P_uc010ibd.1_5'UTR|ZNF721_uc003gaf.3_Missense_Mutation_p.V41A|ZNF721_uc010ibe.2_Intron	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	9						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						ACCTAGGGAGACCAGGTTTCT	0.378													G	466372	A	G	466372	3	3	104	1	0	0	0	0	1	0	0	0	18119	275	10	3	2753	3	ZNF721	4	466372	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	28586	466372	190687904	1779	68393											
PIGG	54872	broad.mit.edu	37	chr4	499698	499698	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatggaacaacctcatttttCgtgtcagattacacagaggt	9	8	2	2	rs146375356		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:499698C>T	uc003gak.3	+	3	688	c.552C>T	c.(550-552)TTC>TTT	p.F184F	PIGG_uc003gaj.3_Silent_p.F184F|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Intron|PIGG_uc003gal.3_Silent_p.F95F|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Silent_p.F62F|PIGG_uc003gam.2_Silent_p.F95F|PIGG_uc003gan.2_Silent_p.F95F	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	184	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	p.F184F(1)		central_nervous_system(2)|ovary(1)|skin(1)	4						CCTCATTTTTCGTGTCAGATT	0.338													T	499698	C	T	499698	2	4	104	1	0	0	0	0	0	0	0	1	11888	883	31	1		1	PIGG	4	499698	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	33326	499698	190654578	1780	68394											
GAK	2580	broad.mit.edu	37	chr4	891937	891937	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttggttactaagcaacaAgttctcaacctgtaaaattc	5	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:891937A>C	uc003gbm.3	-	6	734	c.535T>G	c.(535-537)TTG>GTG	p.L179V	GAK_uc003gbn.3_Missense_Mutation_p.L100V|GAK_uc010ibk.1_Missense_Mutation_p.L73V|GAK_uc003gbl.3_Missense_Mutation_p.L43V	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	179	Protein kinase.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		CTAAGCAACAAGTTCTCAACC	0.542													C	891937	A	C	891937	3	2	104	1	0	0	0	0	1	0	0	0	6195	69	3	5	3492	5	GAK	4	891937	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	392239	891937	190262339	1781	68395											
SPON2	10417	broad.mit.edu	37	chr4	1164274	1164274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggggctctgtcgcagccGcaccagtgtcaccctggcga	13	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:1164274G>A	uc003gcn.3	-	4	754	c.727C>T	c.(727-729)CGG>TGG	p.R243W	SPON2_uc003gco.3_Missense_Mutation_p.R243W|SPON2_uc010ibr.2_Missense_Mutation_p.R243W|SPON2_uc003gcm.1_3'UTR	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	243					axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		TGTCGCAGCCGCACCAGTGTC	0.642													A	1164274	G	A	1164274	3	1	104	1	0	0	0	0	1	0	0	0	15082	1086	38	1	276	1	SPON2	4	1164274	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	272337	1164274	189990002	1782	68396											
CRIPAK	285464	broad.mit.edu	37	chr4	1389618	1389618	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaggatcccttttatatttCtctgcacctcgagataacgt	6	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:1389618C>A	uc003gdf.2	+	1	4279	c.1319C>A	c.(1318-1320)TCT>TAT	p.S440Y		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	440	Interaction with PAK1.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TTTTATATTTCTCTGCACCTC	0.428													A	1389618	C	A	1389618	3	1	104	1	0	0	0	0	1	0	0	0	3877	913	32	5	1321	5	CRIPAK	4	1389618	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	225344	1389618	189764658	1783	68397											
FGFR3	2261	broad.mit.edu	37	chr4	1805474	1805474	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttctctccttgcacaacgTcacctttgaggacgccgggg	12	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:1805474T>C	uc003gdr.3	+	8	1242	c.986T>C	c.(985-987)GTC>GCC	p.V329A	FGFR3_uc003gdu.2_Intron|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Missense_Mutation_p.V329A|FGFR3_uc010icb.1_Missense_Mutation_p.V137A|FGFR3_uc003gdt.1_Missense_Mutation_p.V158A	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	329	Ig-like C2-type 3.|Extracellular (Potential).				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TTGCACAACGTCACCTTTGAG	0.602		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				C	1805474	T	C	1805474	3	2	104	1	0	0	0	0	1	0	0	0	5867	1667	58	3	1167	3	FGFR3	4	1805474	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	415856	1805474	189348802	1784	68398											
WHSC1	7468	broad.mit.edu	37	chr4	1902902	1902902	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacaggaagaggagcataaAatatgactccttgctggagc	12	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:1902902A>C	uc003gdz.3	+	2	697	c.521A>C	c.(520-522)AAA>ACA	p.K174T	WHSC1_uc003geb.3_Missense_Mutation_p.K174T|WHSC1_uc003gec.3_Missense_Mutation_p.K174T|WHSC1_uc003ged.3_Missense_Mutation_p.K174T|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.K174T|WHSC1_uc003gdy.1_Missense_Mutation_p.K174T|WHSC1_uc010icd.1_Missense_Mutation_p.K174T|WHSC1_uc003gea.1_Missense_Mutation_p.K174T|WHSC1_uc010ice.1_Missense_Mutation_p.K174T|WHSC1_uc003geg.1_Missense_Mutation_p.K174T|WHSC1_uc003geh.1_Missense_Mutation_p.K174T	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	174					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGGAGCATAAAATATGACTCC	0.443			T	IGH@	MM								C	1902902	A	C	1902902	3	2	104	1	0	0	0	0	1	0	0	0	17359	14	1	5	523	5	WHSC1	4	1902902	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	97428	1902902	189251374	1785	68399											
WHSC2	7469	broad.mit.edu	37	chr4	1985339	1985339	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atacctcgggagccggccatGaagcccaggatgagggcctt	14	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:1985339G>T	uc003gem.2	-	10	1659	c.1419C>A	c.(1417-1419)TTC>TTA	p.F473L	WHSC2_uc003gek.2_Missense_Mutation_p.F199L|WHSC2_uc003gel.2_Missense_Mutation_p.F387L|WHSC2_uc003gen.2_Missense_Mutation_p.F327L	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Wolf-Hirschhorn syndrome candidate 2 protein	462					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			AGCCGGCCATGAAGCCCAGGA	0.662													T	1985339	G	T	1985339	3	4	104	1	0	0	0	0	1	0	0	0	17361	1281	45	5	208	5	WHSC2	4	1985339	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	82437	1985339	189168937	1786	68400											
POLN	353497	broad.mit.edu	37	chr4	2172450	2172450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctgcaaccccgttctggGgagactgttcctttgactca	9	12	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:2172450G>A	uc003ger.2	-	11	1510	c.1510C>T	c.(1510-1512)CCC>TCC	p.P504S	POLN_uc010ich.1_Missense_Mutation_p.P95S|POLN_uc011bvi.1_Missense_Mutation_p.P504S	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	504					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CCCGTTCTGGGGAGACTGTTC	0.428								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	2172450	G	A	2172450	3	1	104	1	0	0	0	0	1	0	0	0	12207	1232	43	4	1248	4	POLN	4	2172450	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	187111	2172450	188981826	1787	68401											
POLN	353497	broad.mit.edu	37	chr4	2210191	2210191	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttggcagaacctcttgatgtCtgacttcttaaagatttaag	8	7	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:2210191C>T	uc003ger.2	-	3	237	c.237G>A	c.(235-237)CAG>CAA	p.Q79Q	POLN_uc010ich.1_5'UTR|POLN_uc011bvi.1_Silent_p.Q79Q	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	79					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CTCTTGATGTCTGACTTCTTA	0.378								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	2210191	C	T	2210191	2	4	104	1	0	0	0	0	0	0	0	1	12207	912	32	4		4	POLN	4	2210191	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	37741	2210191	188944085	1788	68402											
MXD4	10608	broad.mit.edu	37	chr4	2252282	2252282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacgggcctacgagagggCggggcggcccagccgccggc	20	15	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:2252282C>T	uc003geu.1	-	6	651	c.619G>A	c.(619-621)GCC>ACC	p.A207T		NM_006454	NP_006445	Q14582	MAD4_HUMAN	MAD4	207					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity				0						TACGAGAGGGCGGGGCGGCCC	0.706													T	2252282	C	T	2252282	3	4	104	1	0	0	0	0	1	0	0	0	10001	768	27	1	14	1	MXD4	4	2252282	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	42091	2252282	188901994	1789	68403											
FAM193A	8603	broad.mit.edu	37	chr4	2673955	2673955	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttcctcctggccatcagttCttgagcccagagaagcccac	8	16	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:2673955C>A	uc010icl.2	+	11	1665	c.1314C>A	c.(1312-1314)TTC>TTA	p.F438L	FAM193A_uc010ick.2_Missense_Mutation_p.F638L|FAM193A_uc003gfd.2_Missense_Mutation_p.F438L|FAM193A_uc011bvm.1_Missense_Mutation_p.F460L|FAM193A_uc011bvn.1_Missense_Mutation_p.F438L|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.F292L	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	438										ovary(3)	3						GCCATCAGTTCTTGAGCCCAG	0.537													A	2673955	C	A	2673955	3	1	104	1	0	0	0	0	1	0	0	0	5524	912	32	5	1348	5	FAM193A	4	2673955	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	421673	2673955	188480321	1790	68404											
GRK4	2868	broad.mit.edu	37	chr4	3006044	3006044	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaacccttccaaaaaagcCtttgaggaatgtactaggta	9	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:3006044C>A	uc003ggn.1	+	5	881	c.426C>A	c.(424-426)GCC>GCA	p.A142A	GRK4_uc003ggo.1_Silent_p.A142A|GRK4_uc003ggp.1_Silent_p.A110A|GRK4_uc003ggq.1_Silent_p.A110A	NM_182982	NP_892027	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4 isoform	142	RGS.|N-terminal.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCAAAAAAGCCTTTGAGGAAT	0.428													A	3006044	C	A	3006044	2	1	104	1	0	0	0	0	0	0	0	1	6791	668	24	5		5	GRK4	4	3006044	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	332089	3006044	188148232	1791	68405											
HTT	3064	broad.mit.edu	37	chr4	3088673	3088673	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttttatttttagaaagaaaGaactttcagctaccaagaaa	5	5	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:3088673G>T	uc011bvq.1	+	3	422	c.277G>T	c.(277-279)GAA>TAA	p.E93*		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	91					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TAGAAAGAAAGAACTTTCAGC	0.353													T	3088673	G	T	3088673	4	4	104	1	0	0	0	0	0	1	0	0	7457	943	33	5	277	5	HTT	4	3088673	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	82629	3088673	188065603	1792	68406											
HTT	3064	broad.mit.edu	37	chr4	3138026	3138026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatgaagaccccagggtgcGacatgttgccgcagcatcac	12	12	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:3138026G>A	uc011bvq.1	+	22	2922	c.2777G>A	c.(2776-2778)CGA>CAA	p.R926Q		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	924	HEAT 5.				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCCAGGGTGCGACATGTTGCC	0.368													A	3138026	G	A	3138026	3	1	104	1	0	0	0	0	1	0	0	0	7457	1058	37	1	2853	1	HTT	4	3138026	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	49353	3138026	188016250	1793	68407											
HTT	3064	broad.mit.edu	37	chr4	3184144	3184144	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatgaagacaagtggaagCgactgtctcgacagatagct	12	7	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:3184144C>T	uc011bvq.1	+	38	4964	c.4819C>T	c.(4819-4821)CGA>TGA	p.R1607*		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1605					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAAGTGGAAGCGACTGTCTCG	0.483													T	3184144	C	T	3184144	4	4	104	1	0	0	0	0	0	1	0	0	7457	760	27	1	4959	1	HTT	4	3184144	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	46118	3184144	187970132	1794	68408											
HTT	3064	broad.mit.edu	37	chr4	3201479	3201479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgttccggagaatcacaGcagctgccactaggctgttc	11	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:3201479G>A	uc011bvq.1	+	42	5540	c.5395G>A	c.(5395-5397)GCA>ACA	p.A1799T		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1797					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAGAATCACAGCAGCTGCCAC	0.507													A	3201479	G	A	3201479	3	1	104	1	0	0	0	0	1	0	0	0	7457	971	34	2	5551	2	HTT	4	3201479	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	17335	3201479	187952797	1795	68409											
HTT	3064	broad.mit.edu	37	chr4	3210534	3210534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attccctgctggacaggtttCgtctctccaccatgcaagac	8	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:3210534C>T	uc011bvq.1	+	47	6338	c.6193C>T	c.(6193-6195)CGT>TGT	p.R2065C		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2063					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGACAGGTTTCGTCTCTCCAC	0.433													T	3210534	C	T	3210534	3	4	104	1	0	0	0	0	1	0	0	0	7457	884	31	1	6369	1	HTT	4	3210534	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	9055	3210534	187943742	1796	68410											
RGS12	6002	broad.mit.edu	37	chr4	3318097	3318097	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagaccagatacttgctgTcaatgaaatcaacgtgaaaa	9	7	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:3318097T>C	uc003ggw.2	+	2	1104	c.200T>C	c.(199-201)GTC>GCC	p.V67A	RGS12_uc003ggu.2_Missense_Mutation_p.V67A|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.V67A|RGS12_uc003ggx.1_Missense_Mutation_p.V67A	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	67	PDZ.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATACTTGCTGTCAATGAAATC	0.517													C	3318097	T	C	3318097	3	2	104	1	0	0	0	0	1	0	0	0	13295	1667	58	3	202	3	RGS12	4	3318097	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	107563	3318097	187836179	1797	68411											
HGFAC	3083	broad.mit.edu	37	chr4	3449301	3449301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgacgcagaccttcggcatcGagaagtacatcccgtacacc	9	14	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:3449301G>A	uc003ghc.2	+	11	1441	c.1438G>A	c.(1438-1440)GAG>AAG	p.E480K	HGFAC_uc010icw.2_Missense_Mutation_p.E487K	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	480	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTTCGGCATCGAGAAGTACAT	0.662													A	3449301	G	A	3449301	3	1	104	1	0	0	0	0	1	0	0	0	7086	1059	37	1	1480	1	HGFAC	4	3449301	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	131204	3449301	187704975	1798	68412											
LRPAP1	4043	broad.mit.edu	37	chr4	3516638	3516638	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcttctcgattttggcttcGaagtgcttgagctcctcctg	10	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:3516638G>A	uc003ghi.2	-	7	937	c.852C>T	c.(850-852)TTC>TTT	p.F284F		NM_002337	NP_002328	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein	284	LDL receptor binding (Potential).|Potential.				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TTTTGGCTTCGAAGTGCTTGA	0.587													A	3516638	G	A	3516638	2	1	104	1	0	0	0	0	0	0	0	1	8964	1049	37	1		1	LRPAP1	4	3516638	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	67337	3516638	187637638	1799	68413											
TMEM128	85013	broad.mit.edu	37	chr4	4248040	4248040	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattaagtcttggaagaggtTtctcctttttctcaacagct	7	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:4248040T>G	uc003ghr.1	-	2	158	c.128A>C	c.(127-129)AAA>ACA	p.K43T	TMEM128_uc003ghq.1_Missense_Mutation_p.K19T|TMEM128_uc003ghs.2_Missense_Mutation_p.K43T|TMEM128_uc011bvv.1_Missense_Mutation_p.K43T|TMEM128_uc011bvw.1_Missense_Mutation_p.K43T	NM_032927	NP_116316	Q5BJH2	TM128_HUMAN	transmembrane protein 128	43				K -> E (in Ref. 2; CAI45928).		integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		TGGAAGAGGTTTCTCCTTTTT	0.353													G	4248040	T	G	4248040	3	3	104	1	0	0	0	0	1	0	0	0	16038	1841	64	5	381	5	TMEM128	4	4248040	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	731402	4248040	186906236	1800	68414											
CYTL1	54360	broad.mit.edu	37	chr4	5018581	5018581	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actctcctgcagaacgagttCatgatggtgtacagcttccg	10	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:5018581C>A	uc003gig.2	-	3	334	c.309G>T	c.(307-309)ATG>ATT	p.M103I		NM_018659	NP_061129	Q9NRR1	CYTL1_HUMAN	cytokine-like 1 precursor	103					signal transduction	extracellular space|soluble fraction	receptor binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		AGAACGAGTTCATGATGGTGT	0.498													A	5018581	C	A	5018581	3	1	104	1	0	0	0	0	1	0	0	0	4208	826	29	5	109	5	CYTL1	4	5018581	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	770541	5018581	186135695	1801	68415											
C4orf6	10141	broad.mit.edu	37	chr4	5528021	5528021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacccaaaccccagtgtgaCtgtctccggtgctcactcaa	8	15	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:5528021C>T	uc003gii.2	+	2	420	c.245C>T	c.(244-246)ACT>ATT	p.T82I		NM_005750	NP_005741	Q99440	CD006_HUMAN	chromosome 4 open reading frame 6	82					nervous system development						0						CCCAGTGTGACTGTCTCCGGT	0.458													T	5528021	C	T	5528021	3	4	104	1	0	0	0	0	1	0	0	0	2278	565	20	4	251	4	C4orf6	4	5528021	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	509440	5528021	185626255	1802	68416											
EVC2	132884	broad.mit.edu	37	chr4	5683025	5683025	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttatggaaaaaagcacttTcagctgtgttctgttctaga	9	6	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:5683025T>G	uc003gij.2	-	7	886	c.832A>C	c.(832-834)AAA>CAA	p.K278Q	EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.K198Q	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	278						integral to membrane				large_intestine(3)|ovary(2)	5						AAAAGCACTTTCAGCTGTGTT	0.468													G	5683025	T	G	5683025	3	3	104	1	0	0	0	0	1	0	0	0	5286	1792	62	5	3158	5	EVC2	4	5683025	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	155004	5683025	185471251	1803	68417											
EVC	2121	broad.mit.edu	37	chr4	5750029	5750029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgattctcaggagctgcaggCtctggtaatgctggaggggg	17	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:5750029C>T	uc003gil.1	+	8	1278	c.1094C>T	c.(1093-1095)GCT>GTT	p.A365V	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Silent_p.E458E	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	365					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				GAGCTGCAGGCTCTGGTAATG	0.473													T	5750029	C	T	5750029	3	4	104	1	0	0	0	0	1	0	0	0	5285	797	28	2	1124	2	EVC	4	5750029	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	67004	5750029	185404247	1804	68418											
CRMP1	1400	broad.mit.edu	37	chr4	5862925	5862925	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccaccaggaacgattaagttCtctcctatttgtctggaggc	9	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:5862925C>T	uc003gip.2	-	4	242	c.141G>A	c.(139-141)GAG>GAA	p.E47E	CRMP1_uc003gin.1_Intron|CRMP1_uc003giq.2_Silent_p.E47E|CRMP1_uc003gir.2_Silent_p.E42E|CRMP1_uc003gis.2_Silent_p.E161E	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	47					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		CGATTAAGTTCTCTCCTATTT	0.453													T	5862925	C	T	5862925	2	4	104	1	0	0	0	0	0	0	0	1	3890	912	32	4		4	CRMP1	4	5862925	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	112896	5862925	185291351	1805	68419											
C4orf50	389197	broad.mit.edu	37	chr4	5961154	5961154	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgggaattgctgcaaatgCtttgtctaagctcttggtga	11	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:5961154C>A	uc003git.1	-	7	869	c.779G>T	c.(778-780)AGC>ATC	p.S260I		NM_207405	NP_997288	Q6ZRC1	CD050_HUMAN	hypothetical protein LOC389197	260										pancreas(2)|breast(1)	3						GCTGCAAATGCTTTGTCTAAG	0.493													A	5961154	C	A	5961154	3	1	104	1	0	0	0	0	1	0	0	0	2276	797	28	5	55	5	C4orf50	4	5961154	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	98229	5961154	185193122	1806	68420											
JAKMIP1	152789	broad.mit.edu	37	chr4	6066724	6066724	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaatccaaaaaatgtctcCacaacatgcttctgtaaaac	3	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:6066724C>A	uc003giu.3	-	9	1590	c.1314G>T	c.(1312-1314)GTG>GTT	p.V438V	JAKMIP1_uc010idb.1_Silent_p.V438V|JAKMIP1_uc010idc.1_Silent_p.V253V|JAKMIP1_uc010idd.1_Silent_p.V438V|JAKMIP1_uc011bwc.1_Silent_p.V273V|JAKMIP1_uc003giv.3_Silent_p.V438V|JAKMIP1_uc010ide.2_Silent_p.V438V	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	438	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						AAAATGTCTCCACAACATGCT	0.512													A	6066724	C	A	6066724	2	1	104	1	0	0	0	0	0	0	0	1	7940	581	21	5		5	JAKMIP1	4	6066724	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	105570	6066724	185087552	1807	68421											
JAKMIP1	152789	broad.mit.edu	37	chr4	6114646	6114646	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcacgccagccagcaggcGtggctaccagctccaccgtg	12	17	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:6114646G>A	uc003giu.3	-	2	208	c.-68C>T	c.(-70--66)CACGC>CATGC		JAKMIP1_uc010idb.1_Translation_Start_Site|JAKMIP1_uc010idc.1_Translation_Start_Site|JAKMIP1_uc010idd.1_Translation_Start_Site|JAKMIP1_uc011bwc.1_Translation_Start_Site|JAKMIP1_uc003giv.3_Translation_Start_Site|JAKMIP1_uc010ide.2_Translation_Start_Site	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein						protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						GCCAGCAGGCGTGGCTACCAG	0.607													A	6114646	G	A	6114646	1	1	104	1	0	0	0	0	0	0	0	0	7940	1160	40	1		1	JAKMIP1	4	6114646	Translation_Start_Site	SNP	G	TCGA-BR-8680-01A-11D-2394-08	47922	6114646	185039630	1808	68422											
CCDC96	257236	broad.mit.edu	37	chr4	7043201	7043201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtctgatgttgtccgtccGcagcccctctcgggcttgct	11	15	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:7043201G>A	uc003gjv.2	-	1	1528	c.1465C>T	c.(1465-1467)CGG>TGG	p.R489W	TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	489											0						TTGTCCGTCCGCAGCCCCTCT	0.557													A	7043201	G	A	7043201	3	1	104	1	0	0	0	0	1	0	0	0	2874	1086	38	1	206	1	CCDC96	4	7043201	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	928555	7043201	184111075	1809	68423											
SORCS2	57537	broad.mit.edu	37	chr4	7705057	7705057	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggaccacggcggcgtgatCgtggccatcaaagacacctc	12	14	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:7705057C>T	uc003gkb.3	+	13	1719	c.1719C>T	c.(1717-1719)ATC>ATT	p.I573I	SORCS2_uc011bwi.1_Silent_p.I401I	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor	573	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2						GCGGCGTGATCGTGGCCATCA	0.602													T	7705057	C	T	7705057	2	4	104	1	0	0	0	0	0	0	0	1	14931	874	31	1		1	SORCS2	4	7705057	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	661856	7705057	183449219	1810	68424											
SORCS2	57537	broad.mit.edu	37	chr4	7706006	7706006	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccaggggacgagacgctggtCatgacgtgagtgcggggacc	18	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:7706006C>A	uc003gkb.3	+	14	1863	c.1863C>A	c.(1861-1863)GTC>GTA	p.V621V	SORCS2_uc011bwi.1_Silent_p.V449V	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor	621	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2						AGACGCTGGTCATGACGTGAG	0.662													A	7706006	C	A	7706006	2	1	104	1	0	0	0	0	0	0	0	1	14931	813	29	5		5	SORCS2	4	7706006	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	949	7706006	183448270	1811	68425											
SH3TC1	54436	broad.mit.edu	37	chr4	8214461	8214461	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgctggctgtgcggaggaAgagcagactgcgggaccccg	18	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:8214461A>C	uc003gkv.3	+	4	382	c.281A>C	c.(280-282)AAG>ACG	p.K94T	SH3TC1_uc003gkw.3_Missense_Mutation_p.K18T|SH3TC1_uc003gkx.3_RNA	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	94							binding			large_intestine(2)|pancreas(1)	3						GTGCGGAGGAAGAGCAGACTG	0.667													C	8214461	A	C	8214461	3	2	104	1	0	0	0	0	1	0	0	0	14261	72	3	5	291	5	SH3TC1	4	8214461	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	508455	8214461	182939815	1812	68426											
HTRA3	94031	broad.mit.edu	37	chr4	8305989	8305989	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatgtgcaagaggttgcgccGaattcaccttctcagaggta	11	9	2	2	rs145508993		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:8305989G>A	uc003gla.2	+	8	1383	c.1179G>A	c.(1177-1179)CCG>CCA	p.P393P		NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	393	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1						AGGTTGCGCCGAATTCACCTT	0.597													A	8305989	G	A	8305989	2	1	104	1	0	0	0	0	0	0	0	1	7455	1045	37	1		1	HTRA3	4	8305989	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	91528	8305989	182848287	1813	68427											
GPR78	27201	broad.mit.edu	37	chr4	8583065	8583065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgctacgccggacgcctgcGaccgcgctatgccggcctgc	14	18	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:8583065G>A	uc003glk.2	+	1	775	c.356G>A	c.(355-357)CGA>CAA	p.R119Q	CPZ_uc003gll.2_RNA	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	119	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|ovary(2)	6						GGACGCCTGCGACCGCGCTAT	0.706													A	8583065	G	A	8583065	3	1	104	1	0	0	0	0	1	0	0	0	6710	1058	37	1	358	1	GPR78	4	8583065	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	277076	8583065	182571211	1814	68428											
GPR78	27201	broad.mit.edu	37	chr4	8589021	8589021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgctgaagagaaccccGcgcccagcgtccacccacaa	9	18	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:8589021G>A	uc003glk.2	+	3	1442	c.1023G>A	c.(1021-1023)CCG>CCA	p.P341P	CPZ_uc003gll.2_Intron	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	341	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|ovary(2)	6						AGAGAACCCCGCGCCCAGCGT	0.642													A	8589021	G	A	8589021	2	1	104	1	0	0	0	0	0	0	0	1	6710	1074	38	1		1	GPR78	4	8589021	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5956	8589021	182565255	1815	68429											
HS3ST1	9957	broad.mit.edu	37	chr4	11400898	11400898	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttttgttaaagtagaagttCgaagcattgatctgcggcga	12	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:11400898C>T	uc003gmq.2	-	2	1055	c.732G>A	c.(730-732)TCG>TCA	p.S244S		NM_005114	NP_005105	O14792	HS3S1_HUMAN	heparan sulfate D-glucosaminyl	244						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			skin(1)	1						AGTAGAAGTTCGAAGCATTGA	0.572													T	11400898	C	T	11400898	2	4	104	1	0	0	0	0	0	0	0	1	7363	871	31	1		1	HS3ST1	4	11400898	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2811877	11400898	179753378	1816	68430											
RAB28	9364	broad.mit.edu	37	chr4	13383192	13383192	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtaagtgtttttcaggttTtattgttcgcatatgctcca	8	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:13383192T>G	uc003gmu.2	-	5	633	c.418A>C	c.(418-420)AAA>CAA	p.K140Q	RAB28_uc003gmt.2_Missense_Mutation_p.K140Q|RAB28_uc011bwz.1_Missense_Mutation_p.K140Q|RAB28_uc003gmv.2_RNA	NM_001017979	NP_001017979	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family isoform 1	140					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			ovary(1)|skin(1)	2						TTTTCAGGTTTTATTGTTCGC	0.318													G	13383192	T	G	13383192	3	3	104	1	0	0	0	0	1	0	0	0	12916	1850	64	5	399	5	RAB28	4	13383192	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1982294	13383192	177771084	1817	68431											
BOD1L	259282	broad.mit.edu	37	chr4	13579056	13579056	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgatacagtgagagaacgtTtgggttttcttcctctccga	10	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:13579056T>G	uc003gmz.1	-	24	8972	c.8855A>C	c.(8854-8856)AAA>ACA	p.K2952T		NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2952							DNA binding			ovary(5)|breast(1)	6						GAGAGAACGTTTGGGTTTTCT	0.353													G	13579056	T	G	13579056	3	3	104	1	0	0	0	0	1	0	0	0	1483	1841	64	5	312	5	BOD1L	4	13579056	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	195864	13579056	177575220	1818	68432											
BOD1L	259282	broad.mit.edu	37	chr4	13603585	13603585	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcatcatccttttcctctgTcacaacgctatttacattgg	5	12	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:13603585T>C	uc003gmz.1	-	10	5056	c.4939A>G	c.(4939-4941)ACA>GCA	p.T1647A	BOD1L_uc010idr.1_Missense_Mutation_p.T984A	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1647							DNA binding			ovary(5)|breast(1)	6						TTTTCCTCTGTCACAACGCTA	0.438													C	13603585	T	C	13603585	3	2	104	1	0	0	0	0	1	0	0	0	1483	1667	58	3	4284	3	BOD1L	4	13603585	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	24529	13603585	177550691	1819	68433											
BOD1L	259282	broad.mit.edu	37	chr4	13603599	13603599	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctgtcacaacgctatttAcattggcttcgattttaact	5	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:13603599A>G	uc003gmz.1	-	10	5042	c.4925T>C	c.(4924-4926)GTA>GCA	p.V1642A	BOD1L_uc010idr.1_Missense_Mutation_p.V979A	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1642							DNA binding			ovary(5)|breast(1)	6						AACGCTATTTACATTGGCTTC	0.453													G	13603599	A	G	13603599	3	3	104	1	0	0	0	0	1	0	0	0	1483	391	14	3	4298	3	BOD1L	4	13603599	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	14	13603599	177550677	1820	68434											
CC2D2A	57545	broad.mit.edu	37	chr4	15504497	15504497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccactcctcggcccagacGcttacgaagtcccagtaaga	8	17	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:15504497G>A	uc010idv.2	+	7	634	c.389G>A	c.(388-390)CGC>CAC	p.R130H	CC2D2A_uc003gnx.2_Missense_Mutation_p.R81H|CC2D2A_uc003gnu.2_Missense_Mutation_p.R130H|CC2D2A_uc003gnv.2_Missense_Mutation_p.R130H	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	130					cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3						CGGCCCAGACGCTTACGAAGT	0.433													A	15504497	G	A	15504497	3	1	104	1	0	0	0	0	1	0	0	0	2728	1087	38	1	610	1	CC2D2A	4	15504497	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1900898	15504497	175649779	1821	68435											
CC2D2A	57545	broad.mit.edu	37	chr4	15581677	15581677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtttccaaatcgtcagtgCcttacaacagtaattgatat	6	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:15581677C>T	uc010idv.2	+	31	4103	c.3858C>T	c.(3856-3858)TGC>TGT	p.C1286C	CC2D2A_uc003gnx.2_Silent_p.C1178C|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	1286					cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3						ATCGTCAGTGCCTTACAACAG	0.373													T	15581677	C	T	15581677	2	4	104	1	0	0	0	0	0	0	0	1	2728	747	26	2		2	CC2D2A	4	15581677	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	77180	15581677	175572599	1822	68436											
CC2D2A	57545	broad.mit.edu	37	chr4	15589443	15589443	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttctttttgtcagcaatTtcttgatctcctggcagggg	9	8	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:15589443T>G	uc010idv.2	+	33	4315	c.4070T>G	c.(4069-4071)TTT>TGT	p.F1357C	CC2D2A_uc003gnx.2_Missense_Mutation_p.F1249C|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	1357					cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3						TGTCAGCAATTTCTTGATCTC	0.388													G	15589443	T	G	15589443	3	3	104	1	0	0	0	0	1	0	0	0	2728	1841	64	5	4395	5	CC2D2A	4	15589443	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	7766	15589443	175564833	1823	68437											
FBXL5	26234	broad.mit.edu	37	chr4	15627020	15627020	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgctgcttttctacacaTtgcagaagattctgggagtg	10	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:15627020T>G	uc003goc.1	-	9	1808	c.1705A>C	c.(1705-1707)ATG>CTG	p.M569L	FBXL5_uc010idw.1_Missense_Mutation_p.M482L|FBXL5_uc003gob.1_Missense_Mutation_p.M443L|FBXL5_uc010idx.1_Missense_Mutation_p.M568L|FBXL5_uc003god.1_Missense_Mutation_p.M552L|FBXL5_uc010idy.1_Missense_Mutation_p.M569L	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5 isoform	569					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity				0						TTTCTACACATTGCAGAAGAT	0.418													G	15627020	T	G	15627020	3	3	104	1	0	0	0	0	1	0	0	0	5722	1493	52	5	382	5	FBXL5	4	15627020	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	37577	15627020	175527256	1824	68438											
CD38	952	broad.mit.edu	37	chr4	15850203	15850203	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtgaaaaatcctgaggattCatcttgcacatctgagatct	8	8	4	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:15850203C>A	uc011bxc.1	+	8	988	c.881C>A	c.(880-882)TCA>TAA	p.S294*	CD38_uc003gol.1_Nonsense_Mutation_p.S294*	NM_001775	NP_001766	P28907	CD38_HUMAN	CD38 antigen	294	Extracellular (Potential).				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			ovary(2)	2						CCTGAGGATTCATCTTGCACA	0.428													A	15850203	C	A	15850203	4	1	104	1	0	0	0	0	0	1	0	0	3009	838	29	5	911	5	CD38	4	15850203	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	223183	15850203	175304073	1825	68439											
CLRN2	645104	broad.mit.edu	37	chr4	17528593	17528593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggatctgcgtggccagcgCttcggcccatgctgcaaact	12	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:17528593C>T	uc003gpg.1	+	3	689	c.587C>T	c.(586-588)GCT>GTT	p.A196V		NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN	clarin 2	196	Helical; (Potential).					integral to membrane					0						GTGGCCAGCGCTTCGGCCCAT	0.527													T	17528593	C	T	17528593	3	4	104	1	0	0	0	0	1	0	0	0	3558	797	28	2	597	2	CLRN2	4	17528593	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1678390	17528593	173625683	1826	68440											
NCAPG	64151	broad.mit.edu	37	chr4	17838918	17838918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaagaggatgttcaacttcGacattgcctaggcgtgttct	11	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:17838918G>A	uc003gpp.2	+	15	2422	c.2246G>A	c.(2245-2247)CGA>CAA	p.R749Q	NCAPG_uc011bxj.1_Missense_Mutation_p.R258Q	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	chromosome condensation protein G	749					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			large_intestine(1)	1				STAD - Stomach adenocarcinoma(129;0.18)		GTTCAACTTCGACATTGCCTA	0.428													A	17838918	G	A	17838918	3	1	104	1	0	0	0	0	1	0	0	0	10207	1058	37	1	2304	1	NCAPG	4	17838918	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	310325	17838918	173315358	1827	68441											
NCAPG	64151	broad.mit.edu	37	chr4	17845005	17845005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccgcagcactagaaaaaaGtaaacttaaccttgcccaat	5	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:17845005G>A	uc003gpp.2	+	21	3181	c.3005G>A	c.(3004-3006)AGT>AAT	p.S1002N	NCAPG_uc011bxj.1_Missense_Mutation_p.S511N|LCORL_uc003gpq.2_3'UTR|LCORL_uc011bxk.1_3'UTR	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	chromosome condensation protein G	1002					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			large_intestine(1)	1				STAD - Stomach adenocarcinoma(129;0.18)		CTAGAAAAAAGTAAACTTAAC	0.353													A	17845005	G	A	17845005	3	1	104	1	0	0	0	0	1	0	0	0	10207	1029	36	4	3087	4	NCAPG	4	17845005	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	6087	17845005	173309271	1828	68442											
SLIT2	9353	broad.mit.edu	37	chr4	20598177	20598177	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtttgcctggctatcagggaGaaaagtgtgaaaaattggtt	13	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:20598177G>A	uc003gpr.1	+	32	3664	c.3460G>A	c.(3460-3462)GAA>AAA	p.E1154K	SLIT2_uc003gps.1_Missense_Mutation_p.E1146K	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1154	EGF-like 6.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						CTATCAGGGAGAAAAGTGTGA	0.403													A	20598177	G	A	20598177	3	1	104	1	0	0	0	0	1	0	0	0	14740	943	33	4	3586	4	SLIT2	4	20598177	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2753172	20598177	170556099	1829	68443											
SLIT2	9353	broad.mit.edu	37	chr4	20618673	20618673	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccgatgcaaacaggcattTtgcctggctgtgagccatgc	12	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:20618673T>G	uc003gpr.1	+	35	4192	c.3988T>G	c.(3988-3990)TTG>GTG	p.L1330V	SLIT2_uc003gps.1_Missense_Mutation_p.L1322V	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1330	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						AACAGGCATTTTGCCTGGCTG	0.587													G	20618673	T	G	20618673	3	3	104	1	0	0	0	0	1	0	0	0	14740	1838	64	5	4126	5	SLIT2	4	20618673	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	20496	20618673	170535603	1830	68444											
DHX15	1665	broad.mit.edu	37	chr4	24550623	24550623	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catcaacttcacgctttattCtcttacaggcttcatcaatt	3	12	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:24550623C>A	uc003gqx.2	-	6	1271	c.1103G>T	c.(1102-1104)AGA>ATA	p.R368I		NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	368	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)				ACGCTTTATTCTCTTACAGGC	0.343													A	24550623	C	A	24550623	3	1	104	1	0	0	0	0	1	0	0	0	4501	913	32	5	1320	5	DHX15	4	24550623	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3931950	24550623	166603653	1831	68445											
LGI2	55203	broad.mit.edu	37	chr4	25019737	25019737	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaccacaggtatagccActtggctttgcagtcacatt	7	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:25019737A>C	uc003grf.2	-	6	628	c.529T>G	c.(529-531)TGG>GGG	p.W177G		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	177	LRRCT.					extracellular region					0		Breast(46;0.173)				AGGTATAGCCACTTGGCTTTG	0.383													C	25019737	A	C	25019737	3	2	104	1	0	0	0	0	1	0	0	0	8752	159	6	5	1120	5	LGI2	4	25019737	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	469114	25019737	166134539	1832	68446											
LGI2	55203	broad.mit.edu	37	chr4	25030162	25030162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggcagatgggaaaacattCggtccttgatttctgaaaac	10	7	1	3	rs139692298		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:25030162C>T	uc003grf.2	-	2	335	c.236G>A	c.(235-237)CGA>CAA	p.R79Q		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	79						extracellular region					0		Breast(46;0.173)				GGAAAACATTCGGTCCTTGAT	0.522													T	25030162	C	T	25030162	3	4	104	1	0	0	0	0	1	0	0	0	8752	884	31	1	1429	1	LGI2	4	25030162	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	10425	25030162	166124114	1833	68447											
ZCCHC4	29063	broad.mit.edu	37	chr4	25315706	25315706	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taaaggtgacccaagggaaaGaagaaactcggaggttttat	12	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:25315706G>T	uc003grl.3	+	2	202	c.166G>T	c.(166-168)GAA>TAA	p.E56*		NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	56							methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(2)	2		Breast(46;0.0503)				CCAAGGGAAAGAAGAAACTCG	0.363													T	25315706	G	T	25315706	4	4	104	1	0	0	0	0	0	1	0	0	17587	943	33	5	172	5	ZCCHC4	4	25315706	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	285544	25315706	165838570	1834	68448											
SLC34A2	10568	broad.mit.edu	37	chr4	25665855	25665855	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaagggaagattctctgtttCttccaagggattgggagatt	12	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:25665855C>A	uc003grr.2	+	4	363	c.282C>A	c.(280-282)TTC>TTA	p.F94L	SLC34A2_uc003grs.2_Missense_Mutation_p.F93L|SLC34A2_uc010iev.2_Missense_Mutation_p.F93L	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	94	Cytoplasmic (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)				TTCTCTGTTTCTTCCAAGGGA	0.478													A	25665855	C	A	25665855	3	1	104	1	0	0	0	0	1	0	0	0	14568	912	32	5	292	5	SLC34A2	4	25665855	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	350149	25665855	165488421	1835	68449											
SEL1L3	23231	broad.mit.edu	37	chr4	25769163	25769163	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataccaaaggaaggagcatcGatttgaaaaacagagaaatt	9	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:25769163G>A	uc003gru.3	-	19	2981	c.2829C>T	c.(2827-2829)ATC>ATT	p.I943I	SEL1L3_uc003grt.2_5'UTR|SEL1L3_uc003grv.2_Silent_p.I350I	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	943						integral to membrane	binding				0						AAGGAGCATCGATTTGAAAAA	0.373													A	25769163	G	A	25769163	2	1	104	1	0	0	0	0	0	0	0	1	14012	1048	37	1		1	SEL1L3	4	25769163	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	103308	25769163	165385113	1836	68450											
SEL1L3	23231	broad.mit.edu	37	chr4	25834646	25834646	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttaaaagagatatccagtcGaaaccactccttcaaaggta	7	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:25834646G>A	uc003gru.3	-	5	1221	c.1069C>T	c.(1069-1071)CGA>TGA	p.R357*		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	357						integral to membrane	binding				0						ATATCCAGTCGAAACCACTCC	0.393													A	25834646	G	A	25834646	4	1	104	1	0	0	0	0	0	1	0	0	14012	1066	37	1	2409	1	SEL1L3	4	25834646	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	65483	25834646	165319630	1837	68451											
RBPJ	3516	broad.mit.edu	37	chr4	26407849	26407849	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggatcaaacagtacttattCttcatgcaaaagttgcacag	8	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:26407849C>T	uc003grx.1	+	4	387	c.151C>T	c.(151-153)CTT>TTT	p.L51F	RBPJ_uc003gry.1_Missense_Mutation_p.L36F|RBPJ_uc003grz.1_Missense_Mutation_p.L51F|RBPJ_uc011bxt.1_Missense_Mutation_p.L51F|RBPJ_uc003gsa.1_Missense_Mutation_p.L37F|RBPJ_uc003gsb.1_Missense_Mutation_p.L38F|RBPJ_uc003gsc.1_Missense_Mutation_p.L37F	NM_005349	NP_005340	Q06330	SUH_HUMAN	recombining binding protein suppressor of	51					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)	3		Breast(46;0.0503)				AGTACTTATTCTTCATGCAAA	0.318													T	26407849	C	T	26407849	3	4	104	1	0	0	0	0	1	0	0	0	13161	913	32	4	224	4	RBPJ	4	26407849	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	573203	26407849	164746427	1838	68452											
CCKAR	886	broad.mit.edu	37	chr4	26483749	26483749	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgcaggtaacacccatcGctgtcctcatatttgccgct	7	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:26483749G>A	uc003gse.1	-	5	951	c.798C>T	c.(796-798)AGC>AGT	p.S266S		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	266	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			lung(3)|pancreas(1)	4		Breast(46;0.0503)			Ceruletide(DB00403)	AACACCCATCGCTGTCCTCAT	0.602													A	26483749	G	A	26483749	2	1	104	1	0	0	0	0	0	0	0	1	2880	1078	38	1		1	CCKAR	4	26483749	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	75900	26483749	164670527	1839	68453											
TBC1D19	55296	broad.mit.edu	37	chr4	26685314	26685314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggatgtcttgtattatgaGcagcttaagaccaatgtgat	10	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:26685314G>A	uc003gsf.3	+	12	1104	c.834G>A	c.(832-834)GAG>GAA	p.E278E	TBC1D19_uc010iew.2_Silent_p.E278E|TBC1D19_uc011bxu.1_Silent_p.E213E	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	278	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)	1		Breast(46;0.0503)				TGTATTATGAGCAGCTTAAGA	0.269													A	26685314	G	A	26685314	2	1	104	1	0	0	0	0	0	0	0	1	15604	962	34	2		2	TBC1D19	4	26685314	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	201565	26685314	164468962	1840	68454											
STIM2	57620	broad.mit.edu	37	chr4	27019550	27019550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgtcaagttgccctgcGctttatcgaaatgaagagga	11	8	2	2	rs148666846		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:27019550G>A	uc003gsh.3	+	12	2208	c.1992G>A	c.(1990-1992)GCG>GCA	p.A664A	STIM2_uc003gsg.3_Silent_p.A656A|STIM2_uc010iex.2_Silent_p.A656A|STIM2_uc010iey.2_Silent_p.A280A	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	569	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			central_nervous_system(1)|skin(1)	2		Breast(46;0.0503)				GTTGCCCTGCGCTTTATCGAA	0.532													A	27019550	G	A	27019550	2	1	104	1	0	0	0	0	0	0	0	1	15283	1074	38	1		1	STIM2	4	27019550	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	334236	27019550	164134726	1841	68455											
PCDH7	5099	broad.mit.edu	37	chr4	30723560	30723560	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagccaccgaccgcgacttCggccgcaacggcatcgagcg	12	17	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:30723560C>T	uc003gsk.1	+	1	1524	c.516C>T	c.(514-516)TTC>TTT	p.F172F	PCDH7_uc011bxw.1_Silent_p.F172F|PCDH7_uc011bxx.1_Silent_p.F172F	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	172	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						ACCGCGACTTCGGCCGCAACG	0.483													T	30723560	C	T	30723560	2	4	104	1	0	0	0	0	0	0	0	1	11516	883	31	1		1	PCDH7	4	30723560	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3704010	30723560	160430716	1842	68456											
PCDH7	5099	broad.mit.edu	37	chr4	30723906	30723906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgacggcggcgacccgcctCgctcctcgcaggccatccta	12	19	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:30723906C>T	uc003gsk.1	+	1	1870	c.862C>T	c.(862-864)CGC>TGC	p.R288C	PCDH7_uc011bxw.1_Intron|PCDH7_uc011bxx.1_Missense_Mutation_p.R288C	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	288	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						CGACCCGCCTCGCTCCTCGCA	0.672													T	30723906	C	T	30723906	3	4	104	1	0	0	0	0	1	0	0	0	11516	884	31	1	864	1	PCDH7	4	30723906	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	346	30723906	160430370	1843	68457											
PTTG2	10744	broad.mit.edu	37	chr4	37962363	37962363	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gactgttaaaacaaaaagttCtgttcctgcctcagatgacg	8	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:37962363C>A	uc011bye.1	+	1	308	c.308C>A	c.(307-309)TCT>TAT	p.S103Y	TBC1D1_uc003gtb.2_Intron|TBC1D1_uc011byd.1_Intron|TBC1D1_uc010ifd.2_Intron	NM_006607	NP_006598	Q9NZH5	PTTG2_HUMAN	pituitary tumor-transforming 2	103					chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding				0						ACAAAAAGTTCTGTTCCTGCC	0.408													A	37962363	C	A	37962363	3	1	104	1	0	0	0	0	1	0	0	0	12821	913	32	5	310	5	PTTG2	4	37962363	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7238457	37962363	153191913	1844	68458											
KLF3	51274	broad.mit.edu	37	chr4	38690382	38690382	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccttcggctgggaattcGccctcctctctgaagttccc	8	18	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:38690382G>A	uc003gth.3	+	3	566	c.234G>A	c.(232-234)TCG>TCA	p.S78S	KLF3_uc003gtg.2_Silent_p.S78S	NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	78	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						CTGGGAATTCGCCCTCCTCTC	0.567													A	38690382	G	A	38690382	2	1	104	1	0	0	0	0	0	0	0	1	8347	1074	38	1		1	KLF3	4	38690382	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	728019	38690382	152463894	1845	68459											
KLF3	51274	broad.mit.edu	37	chr4	38696436	38696437	+	Frame_Shift_Ins	INS	-	-	AA													aatccccggatactcaaaggINSaagcggaggatacacagatg							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:38696436_38696437insAA	uc003gth.3	+	5	1097_1098	c.765_766insAA	c.(763-768)AGGAAGfs	p.R255fs		NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	255_256					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						ATACTCAAAGGAAGCGGAGGAT	0.46													AA	38696437	-	AA	38696436	7	5	104	1	0	1	1	0	0	0	0	0	8347	1165	41	0	779	0	KLF3	4	38696436	Frame_Shift_Ins	INS	-	TCGA-BR-8680-01A-11D-2394-08	6054	38696436	152457840	1846	68460	317	2									
KLF3	51274	broad.mit.edu	37	chr4	38696437	38696438	+	Frame_Shift_Ins	INS	-	-	AA													atccccggatactcaaaggaINSagcggaggatacacagatgt							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:38696436_38696437G>GAA	uc003gth.4	+	4	1097_1098	c.765_766G>GAA	c.(763-768)aggaagfs	p.R255fs		NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	255					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						ATACTCAAAGGAAGCGGAGGAT	0.46													AA	38696438	-	AA	38696437	7	5	104	1	0	1	1	0	0	0	0	0	8347	247	9	0	780	0	KLF3	4	38696437	Frame_Shift_Ins	INS	-	TCGA-BR-8680-01A-11D-2394-08	1	38696437	152457839	1847	68461	317	2									
TLR10	81793	broad.mit.edu	37	chr4	38774898	38774898	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attaacattaatagcagctcGaaggtttgcccagaaaagcc	8	9	0	1	rs145139818	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:38774898G>A	uc003gti.2	-	2	2693	c.2314C>T	c.(2314-2316)CGA>TGA	p.R772*	TLR10_uc003gtj.2_Nonsense_Mutation_p.R772*|TLR10_uc003gtk.2_Nonsense_Mutation_p.R772*	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	772	TIR.|Cytoplasmic (Potential).				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2						ATAGCAGCTCGAAGGTTTGCC	0.418													A	38774898	G	A	38774898	4	1	104	1	0	0	0	0	0	1	0	0	15947	1066	37	1	125	1	TLR10	4	38774898	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	78461	38774898	152379378	1848	68462											
TLR10	81793	broad.mit.edu	37	chr4	38775961	38775961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacagtttctggccatgaGcaattttcatcatttttatg	6	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:38775961G>A	uc003gti.2	-	2	1630	c.1251C>T	c.(1249-1251)TGC>TGT	p.C417C	TLR10_uc003gtj.2_Silent_p.C417C|TLR10_uc003gtk.2_Silent_p.C417C	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	417	Extracellular (Potential).|LRR 11.				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2						CTGGCCATGAGCAATTTTCAT	0.358													A	38775961	G	A	38775961	2	1	104	1	0	0	0	0	0	0	0	1	15947	963	34	2		2	TLR10	4	38775961	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1063	38775961	152378315	1849	68463											
TLR1	7096	broad.mit.edu	37	chr4	38799017	38799017	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atccaggaaggtcagttaaaGaattgaaagcaacattgagt	10	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:38799017G>T	uc003gtl.2	-	4	1710	c.1436C>A	c.(1435-1437)TCT>TAT	p.S479Y		NM_003263	NP_003254	Q15399	TLR1_HUMAN	toll-like receptor 1 precursor	479	Extracellular (Potential).|LRR 11.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			lung(2)|skin(2)|prostate(1)	5						GTCAGTTAAAGAATTGAAAGC	0.403													T	38799017	G	T	38799017	3	4	104	1	0	0	0	0	1	0	0	0	15946	942	33	5	928	5	TLR1	4	38799017	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	23056	38799017	152355259	1850	68464											
TLR1	7096	broad.mit.edu	37	chr4	38799487	38799487	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgatgttcatattcgaaaaGatttcatagatataactttg	6	4	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:38799487G>T	uc003gtl.2	-	4	1240	c.966C>A	c.(964-966)ATC>ATA	p.I322I		NM_003263	NP_003254	Q15399	TLR1_HUMAN	toll-like receptor 1 precursor	322	Extracellular (Potential).				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			lung(2)|skin(2)|prostate(1)	5						TATTCGAAAAGATTTCATAGA	0.398													T	38799487	G	T	38799487	2	4	104	1	0	0	0	0	0	0	0	1	15946	932	33	5		5	TLR1	4	38799487	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	470	38799487	152354789	1851	68465											
TMEM156	80008	broad.mit.edu	37	chr4	39000286	39000286	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtttgttcctgagaaataAaatccatgtttcctttagac	6	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:39000286A>C	uc003gto.2	-	2	440	c.332T>G	c.(331-333)TTT>TGT	p.F111C	TMEM156_uc010ifj.2_Missense_Mutation_p.F111C	NM_024943	NP_079219	Q8N614	TM156_HUMAN	transmembrane protein 156	111	Extracellular (Potential).					integral to membrane				skin(1)	1						CTGAGAAATAAAATCCATGTT	0.328													C	39000286	A	C	39000286	3	2	104	1	0	0	0	0	1	0	0	0	16070	14	1	5	578	5	TMEM156	4	39000286	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	200799	39000286	152153990	1852	68466											
WDR19	57728	broad.mit.edu	37	chr4	39276564	39276564	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccaaatacaaaaagaagatCgagggaatggtcaggtaggc	13	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:39276564C>T	uc003gtv.2	+	33	3856	c.3702C>T	c.(3700-3702)ATC>ATT	p.I1234I	WDR19_uc011byi.1_Silent_p.I1074I|WDR19_uc003gtw.1_Silent_p.I831I	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1234					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						AAAAGAAGATCGAGGGAATGG	0.438													T	39276564	C	T	39276564	2	4	104	1	0	0	0	0	0	0	0	1	17276	874	31	1		1	WDR19	4	39276564	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	276278	39276564	151877712	1853	68467											
RFC1	5981	broad.mit.edu	37	chr4	39290437	39290437	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccttatctttttctggttTtgaaggctttgaagattttg	8	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:39290437T>G	uc003gty.1	-	25	3525	c.3391A>C	c.(3391-3393)AAA>CAA	p.K1131Q	RFC1_uc003gtx.1_Missense_Mutation_p.K1130Q	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	1131					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4						TTTTCTGGTTTTGAAGGCTTT	0.348													G	39290437	T	G	39290437	3	3	104	1	0	0	0	0	1	0	0	0	13244	1850	64	5	59	5	RFC1	4	39290437	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	13873	39290437	151863839	1854	68468											
PDS5A	23244	broad.mit.edu	37	chr4	39905808	39905808	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagcttcttttcttactcGccactaaaaagcataaaatt	3	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:39905808G>A	uc003guv.3	-	12	1777	c.1237C>T	c.(1237-1239)CGA>TGA	p.R413*	PDS5A_uc010ifo.2_Nonsense_Mutation_p.R373*|PDS5A_uc003guw.3_Nonsense_Mutation_p.R413*	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	413	HEAT.				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						TTTCTTACTCGCCACTAAAAA	0.388													A	39905808	G	A	39905808	4	1	104	1	0	0	0	0	0	1	0	0	11691	1095	38	1	2897	1	PDS5A	4	39905808	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	615371	39905808	151248468	1855	68469											
N4BP2	55728	broad.mit.edu	37	chr4	40119490	40119490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcccctggaattttcaggCgtaacattcatggggtaagc	10	9	2	0	rs139764100		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:40119490C>T	uc003guy.3	+	8	2004	c.1666C>T	c.(1666-1668)CGT>TGT	p.R556C	N4BP2_uc010ifq.2_Missense_Mutation_p.R476C|N4BP2_uc010ifr.2_Missense_Mutation_p.R476C	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	556						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						AATTTTCAGGCGTAACATTCA	0.303													T	40119490	C	T	40119490	3	4	104	1	0	0	0	0	1	0	0	0	10110	782	27	1	1688	1	N4BP2	4	40119490	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	213682	40119490	151034786	1856	68470											
APBB2	323	broad.mit.edu	37	chr4	40823991	40823991	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgtccatgatgaaggcaAatgtgtggacgtccttccca	11	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:40823991A>C	uc003gvl.2	-	17	2636	c.2006T>G	c.(2005-2007)TTT>TGT	p.F669C	APBB2_uc010ifu.2_Missense_Mutation_p.F241C|APBB2_uc003gvm.2_Missense_Mutation_p.F647C|APBB2_uc003gvn.2_Missense_Mutation_p.F670C|APBB2_uc003gvk.2_Missense_Mutation_p.F121C	NM_173075	NP_775098	Q92870	APBB2_HUMAN	amyloid beta A4 precursor protein-binding,	669	PID 2.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			ovary(2)|large_intestine(1)	3						GATGAAGGCAAATGTGTGGAC	0.542													C	40823991	A	C	40823991	3	2	104	1	0	0	0	0	1	0	0	0	761	14	1	5	278	5	APBB2	4	40823991	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	704501	40823991	150330285	1857	68471											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984086	41984086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttcgtagtgaaccaggtcGaagtcgaaggctccaagtac	11	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:41984086G>A	uc003gwk.2	+	1	374	c.277G>A	c.(277-279)GAA>AAA	p.E93K		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	WD repeat domain 21B	93										skin(1)	1						GAACCAGGTCGAAGTCGAAGG	0.537													A	41984086	G	A	41984086	3	1	104	1	0	0	0	0	1	0	0	0	4271	1059	37	1	279	1	DCAF4L1	4	41984086	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1160095	41984086	149170190	1858	68472											
ATP8A1	10396	broad.mit.edu	37	chr4	42414996	42414996	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcacttcagactgtgaaacGattccattttcatcttgaga	6	9	4	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:42414996G>A	uc003gwr.2	-	37	3664	c.3432C>T	c.(3430-3432)ATC>ATT	p.I1144I	ATP8A1_uc003gwq.2_Silent_p.I370I|ATP8A1_uc003gws.2_Silent_p.I1129I	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	1144	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)	ACTGTGAAACGATTCCATTTT	0.438													A	42414996	G	A	42414996	2	1	104	1	0	0	0	0	0	0	0	1	1192	1048	37	1		1	ATP8A1	4	42414996	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	430910	42414996	148739280	1859	68473											
ATP8A1	10396	broad.mit.edu	37	chr4	42577698	42577698	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcagcagtgtctgtgggttCatagtgcatgtcaagatcct	12	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:42577698C>T	uc003gwr.2	-	13	1379	c.1147G>A	c.(1147-1149)GAA>AAA	p.E383K	ATP8A1_uc003gws.2_Missense_Mutation_p.E383K|ATP8A1_uc011byz.1_Missense_Mutation_p.E383K	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	383	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)	TCTGTGGGTTCATAGTGCATG	0.328													T	42577698	C	T	42577698	3	4	104	1	0	0	0	0	1	0	0	0	1192	835	29	4	2447	4	ATP8A1	4	42577698	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	162702	42577698	148576578	1860	68474											
GNPDA2	132789	broad.mit.edu	37	chr4	44709820	44709820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctaaagtagcatcttcatCgcatacaaaaatagtccggg	7	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:44709820C>T	uc003gwy.2	-	6	875	c.718G>A	c.(718-720)GAT>AAT	p.D240N	GNPDA2_uc010iga.2_Missense_Mutation_p.D206N|GNPDA2_uc011bzb.1_Missense_Mutation_p.D170N|GNPDA2_uc003gwz.1_Missense_Mutation_p.D240N	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	240					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			ovary(1)	1						GCATCTTCATCGCATACAAAA	0.403													T	44709820	C	T	44709820	3	4	104	1	0	0	0	0	1	0	0	0	6543	884	31	1	120	1	GNPDA2	4	44709820	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2132122	44709820	146444456	1861	68475											
COX7B2	170712	broad.mit.edu	37	chr4	46737011	46737011	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactctgccaacaggggataGgttccattctattccaatct	7	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:46737011G>A	uc003gxf.2	-	3	379	c.199C>T	c.(199-201)CTA>TTA	p.L67L	COX7B2_uc010ige.2_RNA	NM_130902	NP_570972	Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2 precursor	67	Mitochondrial intermembrane (By similarity).					integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity				0						ACAGGGGATAGGTTCCATTCT	0.403													A	46737011	G	A	46737011	2	1	104	1	0	0	0	0	0	0	0	1	3783	991	35	4		4	COX7B2	4	46737011	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2027191	46737011	144417265	1862	68476											
GABRA4	2557	broad.mit.edu	37	chr4	46930668	46930668	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gattcttgaacaactgtggaAgatttgcttgaatggtttcc	10	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:46930668A>C	uc003gxg.2	-	9	1378	c.1239T>G	c.(1237-1239)TCT>TCG	p.S413S		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	413	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAACTGTGGAAGATTTGCTTG	0.423													C	46930668	A	C	46930668	2	2	104	1	0	0	0	0	0	0	0	1	6163	59	3	5		5	GABRA4	4	46930668	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	193657	46930668	144223608	1863	68477											
GABRB1	2560	broad.mit.edu	37	chr4	47405722	47405722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcatctgcagccagagtcGcactaggtaatacattctca	8	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:47405722G>A	uc003gxh.2	+	7	1203	c.829G>A	c.(829-831)GCA>ACA	p.A277T	GABRB1_uc011bze.1_Missense_Mutation_p.A207T	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	277	Helical; (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGCCAGAGTCGCACTAGGTAA	0.398													A	47405722	G	A	47405722	3	1	104	1	0	0	0	0	1	0	0	0	6166	1087	38	1	855	1	GABRB1	4	47405722	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	475054	47405722	143748554	1864	68478											
ATP10D	57205	broad.mit.edu	37	chr4	47593305	47593305	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtgctattgagcaaggAaacttatctctgtgtgaaac	9	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:47593305A>C	uc003gxk.1	+	23	4352	c.4188A>C	c.(4186-4188)GGA>GGC	p.G1396G	ATP10D_uc003gxl.1_Silent_p.G644G	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1396	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						TTGAGCAAGGAAACTTATCTC	0.458													C	47593305	A	C	47593305	2	2	104	1	0	0	0	0	0	0	0	1	1118	233	9	5		5	ATP10D	4	47593305	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	187583	47593305	143560971	1865	68479											
CORIN	10699	broad.mit.edu	37	chr4	47597786	47597786	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctgtcttttaatccattcGacgaaatatgacacattact	4	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:47597786G>A	uc003gxm.2	-	22	3174	c.3081C>T	c.(3079-3081)GTC>GTT	p.V1027V	CORIN_uc011bzf.1_Silent_p.V888V|CORIN_uc011bzg.1_Silent_p.V960V	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	1027	Extracellular (Potential).|Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2						TAATCCATTCGACGAAATATG	0.413													A	47597786	G	A	47597786	2	1	104	1	0	0	0	0	0	0	0	1	3752	1045	37	1		1	CORIN	4	47597786	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4481	47597786	143556490	1866	68480											
CORIN	10699	broad.mit.edu	37	chr4	47602261	47602261	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaactgtgccagactcataGccagcacatatcatccgagt	7	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:47602261G>A	uc003gxm.2	-	21	3009	c.2916C>T	c.(2914-2916)GGC>GGT	p.G972G	CORIN_uc011bzf.1_Silent_p.G833G|CORIN_uc011bzg.1_Silent_p.G905G	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	972	Extracellular (Potential).|Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2						CAGACTCATAGCCAGCACATA	0.423													A	47602261	G	A	47602261	2	1	104	1	0	0	0	0	0	0	0	1	3752	958	34	2		2	CORIN	4	47602261	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4475	47602261	143552015	1867	68481											
CORIN	10699	broad.mit.edu	37	chr4	47663851	47663851	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagaacagactcacagcgttCtttagagtgttcacacaatg	8	9	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:47663851C>A	uc003gxm.2	-	12	1705	c.1612G>T	c.(1612-1614)GAA>TAA	p.E538*	CORIN_uc011bzf.1_Nonsense_Mutation_p.E399*|CORIN_uc011bzg.1_Nonsense_Mutation_p.E471*|CORIN_uc011bzh.1_Nonsense_Mutation_p.E501*|CORIN_uc011bzi.1_Nonsense_Mutation_p.E501*	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	538	Extracellular (Potential).|FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2						TCACAGCGTTCTTTAGAGTGT	0.413													A	47663851	C	A	47663851	4	1	104	1	0	0	0	0	0	1	0	0	3752	922	32	5	1560	5	CORIN	4	47663851	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	61590	47663851	143490425	1868	68482											
CORIN	10699	broad.mit.edu	37	chr4	47667215	47667215	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgtggccaaaataatTtggataacttgtactgttgt	9	6	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:47667215T>G	uc003gxm.2	-	11	1516	c.1423A>C	c.(1423-1425)AAT>CAT	p.N475H	CORIN_uc011bzf.1_Missense_Mutation_p.N336H|CORIN_uc011bzg.1_Missense_Mutation_p.N408H|CORIN_uc011bzh.1_Missense_Mutation_p.N438H|CORIN_uc011bzi.1_Missense_Mutation_p.N438H	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	475	Extracellular (Potential).|FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2						CCAAAATAATTTGGATAACTT	0.363													G	47667215	T	G	47667215	3	3	104	1	0	0	0	0	1	0	0	0	3752	1841	64	5	1753	5	CORIN	4	47667215	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	3364	47667215	143487061	1869	68483											
CORIN	10699	broad.mit.edu	37	chr4	47765400	47765400	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgggttccgaaatacctgtCatcgccatcaatgatgcact	8	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:47765400C>A	uc003gxm.2	-	4	706	c.613G>T	c.(613-615)GAC>TAC	p.D205Y	CORIN_uc011bzf.1_Missense_Mutation_p.D66Y|CORIN_uc011bzg.1_Missense_Mutation_p.D138Y|CORIN_uc011bzh.1_Missense_Mutation_p.D205Y|CORIN_uc011bzi.1_Missense_Mutation_p.D205Y|CORIN_uc003gxn.3_Missense_Mutation_p.D205Y	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	205	Extracellular (Potential).|FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2						AAATACCTGTCATCGCCATCA	0.413													A	47765400	C	A	47765400	3	1	104	1	0	0	0	0	1	0	0	0	3752	826	29	5	2591	5	CORIN	4	47765400	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	98185	47765400	143388876	1870	68484											
NFXL1	152518	broad.mit.edu	37	chr4	47887941	47887941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttgtggtacgttctcggCcacagggcactgtcaccttt	11	12	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:47887941C>T	uc010igh.2	-	13	1796	c.1619G>A	c.(1618-1620)GGC>GAC	p.G540D	NFXL1_uc003gxp.2_Missense_Mutation_p.G540D|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Missense_Mutation_p.G540D	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like	540						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						ACGTTCTCGGCCACAGGGCAC	0.438													T	47887941	C	T	47887941	3	4	104	1	0	0	0	0	1	0	0	0	10388	739	26	2	1160	2	NFXL1	4	47887941	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	122541	47887941	143266335	1871	68485											
CNGA1	1259	broad.mit.edu	37	chr4	47939313	47939313	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcattcatgttggaaaTcatagaacctatgttaccaa	8	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:47939313T>G	uc003gxt.3	-	11	1464	c.1198A>C	c.(1198-1200)ATT>CTT	p.I400L	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.I469L	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	400	Extracellular (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2						ATGTTGGAAATCATAGAACCT	0.388													G	47939313	T	G	47939313	3	3	104	1	0	0	0	0	1	0	0	0	3596	1435	50	5	878	5	CNGA1	4	47939313	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	51372	47939313	143214963	1872	68486											
CNGA1	1259	broad.mit.edu	37	chr4	47942804	47942804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttgttcgtacaaacatatCgattaaatagactatgtctg	6	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:47942804C>T	uc003gxt.3	-	10	906	c.640G>A	c.(640-642)GAT>AAT	p.D214N	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.D283N	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	214	Helical; Name=H2; (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2						ACAAACATATCGATTAAATAG	0.289													T	47942804	C	T	47942804	3	4	104	1	0	0	0	0	1	0	0	0	3596	884	31	1	1440	1	CNGA1	4	47942804	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3491	47942804	143211472	1873	68487											
SLAIN2	57606	broad.mit.edu	37	chr4	48371900	48371900	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagaaaaaacttacaccaAtgcagaaatcggttagtcca	6	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:48371900A>C	uc003gya.3	+	2	568	c.424A>C	c.(424-426)ATG>CTG	p.M142L		NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	142						centrosome					0						ACTTACACCAATGCAGAAATC	0.363													C	48371900	A	C	48371900	3	2	104	1	0	0	0	0	1	0	0	0	14366	101	4	5	430	5	SLAIN2	4	48371900	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	429096	48371900	142782376	1874	68488											
SLC10A4	201780	broad.mit.edu	37	chr4	48486071	48486071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctcgccttcaagctggacGaggtggccgccgtggcggtg	16	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:48486071G>A	uc003gyc.2	+	1	712	c.493G>A	c.(493-495)GAG>AAG	p.E165K		NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	165	Extracellular (Potential).					integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)	1						CAAGCTGGACGAGGTGGCCGC	0.677													A	48486071	G	A	48486071	3	1	104	1	0	0	0	0	1	0	0	0	14376	1059	37	1	495	1	SLC10A4	4	48486071	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	114171	48486071	142668205	1875	68489											
SLC10A4	201780	broad.mit.edu	37	chr4	48490559	48490559	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttatgtgatagcaatttTtatgcctttggcaggctacg	10	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:48490559T>G	uc003gyc.2	+	3	1136	c.917T>G	c.(916-918)TTT>TGT	p.F306C	ZAR1_uc003gyd.2_5'Flank	NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	306	Helical; (Potential).					integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)	1						ATAGCAATTTTTATGCCTTTG	0.468													G	48490559	T	G	48490559	3	3	104	1	0	0	0	0	1	0	0	0	14376	1841	64	5	927	5	SLC10A4	4	48490559	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	4488	48490559	142663717	1876	68490											
FRYL	285527	broad.mit.edu	37	chr4	48559550	48559550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttctccccgtaaccagcGcctactagtcaccataagtt	5	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:48559550G>A	uc003gyh.1	-	34	4650	c.4045C>T	c.(4045-4047)CGC>TGC	p.R1349C	FRYL_uc003gyk.2_Missense_Mutation_p.R1349C|FRYL_uc003gyg.1_Missense_Mutation_p.R45C|FRYL_uc003gyi.1_Missense_Mutation_p.R238C	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1349					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						CGTAACCAGCGCCTACTAGTC	0.443													A	48559550	G	A	48559550	3	1	104	1	0	0	0	0	1	0	0	0	6064	1087	38	1	5120	1	FRYL	4	48559550	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	68991	48559550	142594726	1877	68491											
FRYL	285527	broad.mit.edu	37	chr4	48577170	48577170	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtcctgccaagacctagaAcaagggattctgtgatttcc	10	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:48577170A>G	uc003gyh.1	-	25	3415	c.2810T>C	c.(2809-2811)GTT>GCT	p.V937A	FRYL_uc003gyk.2_Missense_Mutation_p.V937A	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	937					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						AAGACCTAGAACAAGGGATTC	0.403													G	48577170	A	G	48577170	3	3	104	1	0	0	0	0	1	0	0	0	6064	43	2	3	6391	3	FRYL	4	48577170	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	17620	48577170	142577106	1878	68492											
FRYL	285527	broad.mit.edu	37	chr4	48583531	48583531	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcgactgctacagagaatgAcaagcgcaaagccttcaacc	9	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:48583531A>G	uc003gyh.1	-	21	2683	c.2078T>C	c.(2077-2079)GTC>GCC	p.V693A	FRYL_uc003gyk.2_Missense_Mutation_p.V693A	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	693					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						ACAGAGAATGACAAGCGCAAA	0.463													G	48583531	A	G	48583531	3	3	104	1	0	0	0	0	1	0	0	0	6064	275	10	3	7139	3	FRYL	4	48583531	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	6361	48583531	142570745	1879	68493											
FRYL	285527	broad.mit.edu	37	chr4	48611819	48611819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacttcatgaactaagggatCgggtacaggatgaacaggaa	12	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:48611819C>T	uc003gyh.1	-	8	1038	c.433G>A	c.(433-435)GAT>AAT	p.D145N	FRYL_uc003gyk.2_Missense_Mutation_p.D145N	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						ACTAAGGGATCGGGTACAGGA	0.289													T	48611819	C	T	48611819	3	4	104	1	0	0	0	0	1	0	0	0	6064	884	31	1	8836	1	FRYL	4	48611819	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	28288	48611819	142542457	1880	68494											
LRRC66	339977	broad.mit.edu	37	chr4	52860895	52860895	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttcttgattcttgcattTccctggaattgtttggaagg	9	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:52860895T>C	uc003gzi.2	-	4	2306	c.2293A>G	c.(2293-2295)AAA>GAA	p.K765E		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	765						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						TTCTTGCATTTCCCTGGAATT	0.468													C	52860895	T	C	52860895	3	2	104	1	0	0	0	0	1	0	0	0	9018	1792	62	3	353	3	LRRC66	4	52860895	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	4249076	52860895	138293381	1881	68495											
SPATA18	132671	broad.mit.edu	37	chr4	52946066	52946066	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgcatatggagcagatggaGaagtttttaatgattgcaag	12	3	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:52946066G>A	uc003gzl.2	+	9	1614	c.1336G>A	c.(1336-1338)GAA>AAA	p.E446K	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.E414K|SPATA18_uc003gzk.1_Missense_Mutation_p.E446K	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	446					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AGCAGATGGAGAAGTTTTTAA	0.398													A	52946066	G	A	52946066	3	1	104	1	0	0	0	0	1	0	0	0	15002	943	33	4	1370	4	SPATA18	4	52946066	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	85171	52946066	138208210	1882	68496											
LNX1	84708	broad.mit.edu	37	chr4	54343119	54343119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccggctgacctctgtcagttCgaccccatccacattcaaca	6	17	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:54343119C>T	uc003hag.3	-	9	1949	c.1693G>A	c.(1693-1695)GAA>AAA	p.E565K	PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Missense_Mutation_p.E469K|LNX1_uc003hah.3_RNA	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1 isoform a	565	PDZ 3.					cytoplasm	zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCTGTCAGTTCGACCCCATCC	0.468													T	54343119	C	T	54343119	3	4	104	1	0	0	0	0	1	0	0	0	8865	893	31	1	505	1	LNX1	4	54343119	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1397053	54343119	136811157	1883	68497											
CHIC2	26511	broad.mit.edu	37	chr4	54880282	54880282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataacttctcaatcgatcttCgtgtctggaagacaaatgag	8	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:54880282C>T	uc003haj.1	-	4	656	c.335G>A	c.(334-336)CGA>CAA	p.R112Q	PDGFRA_uc003haa.2_Intron	NM_012110	NP_036242	Q9UKJ5	CHIC2_HUMAN	cysteine-rich hydrophobic domain 2	112		Breakpoint for translocation to form CHIC2-ETV6 in AML.				plasma membrane	protein binding			central_nervous_system(1)	1	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		LUSC - Lung squamous cell carcinoma(32;0.00216)			AATCGATCTTCGTGTCTGGAA	0.403			T	ETV6	AML								T	54880282	C	T	54880282	3	4	104	1	0	0	0	0	1	0	0	0	3344	884	31	1	174	1	CHIC2	4	54880282	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	537163	54880282	136273994	1884	68498											
PDGFRA	5156	broad.mit.edu	37	chr4	55131147	55131147	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtataagtcaggggaaacGattgtggtcacctgtgctgt	14	6	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:55131147G>A	uc003han.3	+	5	1021	c.690G>A	c.(688-690)ACG>ACA	p.T230T	PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_3'UTR|PDGFRA_uc010igq.1_Silent_p.T124T|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	230	Ig-like C2-type 3.|Extracellular (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CAGGGGAAACGATTGTGGTCA	0.403			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			A	55131147	G	A	55131147	2	1	104	1	0	0	0	0	0	0	0	1	11661	1045	37	1		1	PDGFRA	4	55131147	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	250865	55131147	136023129	1885	68499											
PDGFRA	5156	broad.mit.edu	37	chr4	55138668	55138668	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgatattgagtggatgAtatgcaaagatattaagaag	10	3	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:55138668A>G	uc003han.3	+	9	1676	c.1345A>G	c.(1345-1347)ATA>GTA	p.I449V	PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.I343V|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	449	Ig-like C2-type 5.|Extracellular (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGAGTGGATGATATGCAAAGA	0.433			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			G	55138668	A	G	55138668	3	3	104	1	0	0	0	0	1	0	0	0	11661	333	12	3	1375	3	PDGFRA	4	55138668	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	7521	55138668	136015608	1886	68500											
PDGFRA	5156	broad.mit.edu	37	chr4	55139855	55139855	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcgatgcctggctaagaatCtccttggagctgagaaccga	12	10	1	2	rs142980928		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:55139855C>A	uc003han.3	+	10	1847	c.1516C>A	c.(1516-1518)CTC>ATC	p.L506I	PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.L400I|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	506	Ig-like C2-type 5.|Extracellular (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GGCTAAGAATCTCCTTGGAGC	0.592			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			A	55139855	C	A	55139855	3	1	104	1	0	0	0	0	1	0	0	0	11661	913	32	5	1550	5	PDGFRA	4	55139855	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1187	55139855	136014421	1887	68501											
KIT	3815	broad.mit.edu	37	chr4	55561801	55561801	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcactgatccgggctttgTcaaatggacttttgagatcc	10	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:55561801T>C	uc010igr.2	+	2	278	c.191T>C	c.(190-192)GTC>GCC	p.V64A	KIT_uc010igs.2_Missense_Mutation_p.V64A	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	64	Extracellular (Potential).|Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCGGGCTTTGTCAAATGGACT	0.493		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				C	55561801	T	C	55561801	3	2	104	1	0	0	0	0	1	0	0	0	8329	1667	58	3	197	3	KIT	4	55561801	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	421946	55561801	135592475	1888	68502											
KIT	3815	broad.mit.edu	37	chr4	55575630	55575630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taacgagattaaaaggcaccGaaggaggcacttacacattc	9	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:55575630G>A	uc010igr.2	+	7	1243	c.1156G>A	c.(1156-1158)GAA>AAA	p.E386K	KIT_uc010igs.2_Missense_Mutation_p.E386K	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	386	Ig-like C2-type 4.|Extracellular (Potential).				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAAAGGCACCGAAGGAGGCAC	0.403		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				A	55575630	G	A	55575630	3	1	104	1	0	0	0	0	1	0	0	0	8329	1059	37	1	1182	1	KIT	4	55575630	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13829	55575630	135578646	1889	68503											
NMU	10874	broad.mit.edu	37	chr4	56466696	56466696	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtatgtacctaccctgaatAaaaaatatcctcgactttga	5	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:56466696A>C	uc003hbc.2	-	8	588	c.482T>G	c.(481-483)TTA>TGA	p.L161*	NMU_uc003hbd.1_RNA|NMU_uc010igv.1_RNA|NMU_uc010igw.1_Nonsense_Mutation_p.L76*|NMU_uc010igx.1_RNA	NM_006681	NP_006672	P48645	NMU_HUMAN	neuromedin U precursor	161					neuropeptide signaling pathway	extracellular region					0	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		TACCCTGAATAAAAAATATCC	0.289													C	56466696	A	C	56466696	4	2	104	1	0	0	0	0	0	1	0	0	10505	372	13	5	50	5	NMU	4	56466696	Nonsense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	891066	56466696	134687580	1890	68504											
NMU	10874	broad.mit.edu	37	chr4	56473499	56473499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcccaacttctgtgtcttcGaataatgaaataagaactgt	7	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:56473499G>A	uc003hbc.2	-	6	432	c.326C>T	c.(325-327)TCG>TTG	p.S109L	NMU_uc003hbd.1_RNA|NMU_uc010igv.1_Intron|NMU_uc010igw.1_Missense_Mutation_p.S24L|NMU_uc010igx.1_Intron	NM_006681	NP_006672	P48645	NMU_HUMAN	neuromedin U precursor	109					neuropeptide signaling pathway	extracellular region					0	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		CTGTGTCTTCGAATAATGAAA	0.269													A	56473499	G	A	56473499	3	1	104	1	0	0	0	0	1	0	0	0	10505	1059	37	1	214	1	NMU	4	56473499	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	6803	56473499	134680777	1891	68505											
EXOC1	55763	broad.mit.edu	37	chr4	56736848	56736848	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctttaactttgtaggctaAcatccagtcaatcatggcat	7	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:56736848A>G	uc003hbe.1	+	6	766	c.608A>G	c.(607-609)AAC>AGC	p.N203S	EXOC1_uc003hbf.1_Missense_Mutation_p.N203S|EXOC1_uc003hbg.1_Missense_Mutation_p.N203S	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	203					exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)					TTGTAGGCTAACATCCAGTCA	0.289													G	56736848	A	G	56736848	3	3	104	1	0	0	0	0	1	0	0	0	5301	43	2	3	626	3	EXOC1	4	56736848	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	263349	56736848	134417428	1892	68506											
CEP135	9662	broad.mit.edu	37	chr4	56835228	56835228	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taataggctttttattcctaGaaagagattaaaagaaagct	7	4	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:56835228G>A	uc003hbi.2	+	9	1279	c.1045_splice	c.e9-1	p.K349_splice	CEP135_uc003hbj.2_Splice_Site_p.K55_splice	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4						centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)					TTTATTCCTAGAAAGAGATTA	0.328													A	56835228	G	A	56835228	5	1	104	1	0	0	0	0	0	0	1	0	3247	956	33	4	1074	4	CEP135	4	56835228	Splice_Site	SNP	G	TCGA-BR-8680-01A-11D-2394-08	98380	56835228	134319048	1893	68507											
CEP135	9662	broad.mit.edu	37	chr4	56865579	56865579	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attaaaatactggaggaaaaGataggtaaatgttttaaaat	8	1	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:56865579G>T	uc003hbi.2	+	16	2355	c.2121G>T	c.(2119-2121)AAG>AAT	p.K707N	CEP135_uc003hbj.2_Missense_Mutation_p.K413N	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	707	Potential.				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)					TGGAGGAAAAGATAGGTAAAT	0.343													T	56865579	G	T	56865579	3	4	104	1	0	0	0	0	1	0	0	0	3247	933	33	5	2179	5	CEP135	4	56865579	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	30351	56865579	134288697	1894	68508											
AASDH	132949	broad.mit.edu	37	chr4	57204655	57204655	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgattccaggaccacaggAgaagagaagacttctccagg	11	9	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:57204655A>G	uc003hbn.2	-	15	3363	c.3210T>C	c.(3208-3210)TCT>TCC	p.S1070S	AASDH_uc010ihb.2_Silent_p.S585S|AASDH_uc011caa.1_3'UTR|AASDH_uc003hbo.2_Silent_p.S970S|AASDH_uc011cab.1_Silent_p.S585S|AASDH_uc010ihc.2_3'UTR	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	1070					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GGACCACAGGAGAAGAGAAGA	0.403													G	57204655	A	G	57204655	2	3	104	1	0	0	0	0	0	0	0	1	22	291	11	3		3	AASDH	4	57204655	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	339076	57204655	133949621	1895	68509											
AASDH	132949	broad.mit.edu	37	chr4	57220879	57220879	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atataaaacaacctaaaaatActtggccactgccttcctga	4	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:57220879A>G	uc003hbn.2	-	7	1355	c.1202T>C	c.(1201-1203)GTA>GCA	p.V401A	AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.V248A|AASDH_uc003hbo.2_Missense_Mutation_p.V301A|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Missense_Mutation_p.V401A|AASDH_uc003hbp.2_Missense_Mutation_p.V401A	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	401					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				ACCTAAAAATACTTGGCCACT	0.333													G	57220879	A	G	57220879	3	3	104	1	0	0	0	0	1	0	0	0	22	391	14	3	2130	3	AASDH	4	57220879	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	16224	57220879	133933397	1896	68510											
PPAT	5471	broad.mit.edu	37	chr4	57267619	57267619	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctggatatttccacaaTttctccaggcaagacttcac	7	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:57267619T>C	uc003hbr.2	-	7	965	c.763A>G	c.(763-765)ATT>GTT	p.I255V		NM_002703	NP_002694	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	255	Glutamine amidotransferase type-2.				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	ATTTCCACAATTTCTCCAGGC	0.323													C	57267619	T	C	57267619	3	2	104	1	0	0	0	0	1	0	0	0	12302	1493	52	3	810	3	PPAT	4	57267619	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	46740	57267619	133886657	1897	68511											
REST	5978	broad.mit.edu	37	chr4	57777156	57777156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagaagtttggaactcagcGtcgtagaacctcagcctgta	11	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:57777156G>A	uc003hch.2	+	2	699	c.352G>A	c.(352-354)GTC>ATC	p.V118I	REST_uc003hci.2_Missense_Mutation_p.V118I|REST_uc003hcj.1_Missense_Mutation_p.V118I|REST_uc010ihf.2_5'UTR	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	118	Interaction with SIN3A.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Glioma(25;0.08)|all_neural(26;0.181)					GGAACTCAGCGTCGTAGAACC	0.448													A	57777156	G	A	57777156	3	1	104	1	0	0	0	0	1	0	0	0	13234	1145	40	1	354	1	REST	4	57777156	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	509537	57777156	133377120	1898	68512											
REST	5978	broad.mit.edu	37	chr4	57796369	57796369	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccaatgaaaaaacagaaataGaacaaacaaaaataaaaggg	6	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:57796369G>A	uc003hch.2	+	4	1692	c.1345G>A	c.(1345-1347)GAA>AAA	p.E449K	REST_uc003hci.2_Missense_Mutation_p.E449K|REST_uc010ihf.2_Missense_Mutation_p.E123K	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	449	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Glioma(25;0.08)|all_neural(26;0.181)					AACAGAAATAGAACAAACAAA	0.328													A	57796369	G	A	57796369	3	1	104	1	0	0	0	0	1	0	0	0	13234	943	33	4	1355	4	REST	4	57796369	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	19213	57796369	133357907	1899	68513											
REST	5978	broad.mit.edu	37	chr4	57797984	57797984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaacgtgaagcagtgtccaAaactgcactggcatcacctc	9	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:57797984A>G	uc003hch.2	+	4	3307	c.2960A>G	c.(2959-2961)AAA>AGA	p.K987R	REST_uc003hci.2_Missense_Mutation_p.K987R|REST_uc010ihf.2_Missense_Mutation_p.K661R	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	987					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Glioma(25;0.08)|all_neural(26;0.181)					GCAGTGTCCAAAACTGCACTG	0.448													G	57797984	A	G	57797984	3	3	104	1	0	0	0	0	1	0	0	0	13234	14	1	3	2970	3	REST	4	57797984	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1615	57797984	133356292	1900	68514											
C4orf14	84273	broad.mit.edu	37	chr4	57834643	57834643	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaatggactgtgttggcaaAacaatatttacttctttttc	6	7	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:57834643A>C	uc003hck.2	-	4	1629	c.1554T>G	c.(1552-1554)GTT>GTG	p.V518V		NM_032313	NP_115689	Q8NC60	CD014_HUMAN	hypothetical protein LOC84273	518							GTP binding			ovary(1)|breast(1)	2	Glioma(25;0.08)|all_neural(26;0.181)					GTGTTGGCAAAACAATATTTA	0.318													C	57834643	A	C	57834643	2	2	104	1	0	0	0	0	0	0	0	1	2251	1	1	5		5	C4orf14	4	57834643	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	36659	57834643	133319633	1901	68515											
POLR2B	5431	broad.mit.edu	37	chr4	57857005	57857005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaagaattgtggaagacGctcctcctatagacctacag	8	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:57857005G>A	uc003hcl.1	+	3	227	c.184G>A	c.(184-186)GCT>ACT	p.A62T	POLR2B_uc011cae.1_Missense_Mutation_p.A55T|POLR2B_uc011caf.1_Intron	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	62					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)					TGTGGAAGACGCTCCTCCTAT	0.413													A	57857005	G	A	57857005	3	1	104	1	0	0	0	0	1	0	0	0	12215	1087	38	1	194	1	POLR2B	4	57857005	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	22362	57857005	133297271	1902	68516											
POLR2B	5431	broad.mit.edu	37	chr4	57889730	57889730	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcaatcaggaaggatataAattttgtaaaataagggtga	9	3	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:57889730A>C	uc003hcl.1	+	19	2793	c.2750A>C	c.(2749-2751)AAA>ACA	p.K917T	POLR2B_uc011cae.1_Missense_Mutation_p.K910T|POLR2B_uc011caf.1_Missense_Mutation_p.K842T|POLR2B_uc003hcm.1_Missense_Mutation_p.K410T	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	917					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)					GAAGGATATAAATTTTGTAAA	0.343													C	57889730	A	C	57889730	3	2	104	1	0	0	0	0	1	0	0	0	12215	14	1	5	2824	5	POLR2B	4	57889730	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	32725	57889730	133264546	1903	68517											
EPHA5	2044	broad.mit.edu	37	chr4	66230858	66230858	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactttaagggttttgatagCcacaggtaattctctttttc	7	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:66230858C>A	uc003hcy.2	-	12	2306	c.2113G>T	c.(2113-2115)GCT>TCT	p.A705S	EPHA5_uc003hcx.2_Missense_Mutation_p.A637S|EPHA5_uc003hcz.2_Missense_Mutation_p.A683S|EPHA5_uc011cah.1_Missense_Mutation_p.A706S|EPHA5_uc011cai.1_Missense_Mutation_p.A684S|EPHA5_uc003hda.2_Missense_Mutation_p.A706S	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	705	Cytoplasmic (Potential).|Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						GTTTTGATAGCCACAGGTAAT	0.373										TSP Lung(17;0.13)			A	66230858	C	A	66230858	3	1	104	1	0	0	0	0	1	0	0	0	5170	739	26	5	1028	5	EPHA5	4	66230858	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	8341128	66230858	124923418	1904	68518											
EPHA5	2044	broad.mit.edu	37	chr4	66286258	66286258	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttttgcaattttccctttTttcacattggtgactggaga	7	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:66286258T>C	uc003hcy.2	-	6	1621	c.1428A>G	c.(1426-1428)AAA>AAG	p.K476K	EPHA5_uc003hcx.2_Silent_p.K407K|EPHA5_uc003hcz.2_Silent_p.K476K|EPHA5_uc011cah.1_Silent_p.K476K|EPHA5_uc011cai.1_Silent_p.K476K|EPHA5_uc003hda.2_Silent_p.K476K	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	476	Extracellular (Potential).|Fibronectin type-III 2.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TTTTCCCTTTTTTCACATTGG	0.353										TSP Lung(17;0.13)			C	66286258	T	C	66286258	2	2	104	1	0	0	0	0	0	0	0	1	5170	1838	64	3		3	EPHA5	4	66286258	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	55400	66286258	124868018	1905	68519											
EPHA5	2044	broad.mit.edu	37	chr4	66467723	66467723	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaagatcaagttctgtaaaGctttcatcggcagcaatggt	9	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:66467723G>T	uc003hcy.2	-	3	739	c.546C>A	c.(544-546)AGC>AGA	p.S182R	EPHA5_uc003hcx.2_Missense_Mutation_p.S113R|EPHA5_uc003hcz.2_Missense_Mutation_p.S182R|EPHA5_uc011cah.1_Missense_Mutation_p.S182R|EPHA5_uc011cai.1_Missense_Mutation_p.S182R|EPHA5_uc003hda.2_Missense_Mutation_p.S182R	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	182	Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						GTTCTGTAAAGCTTTCATCGG	0.363										TSP Lung(17;0.13)			T	66467723	G	T	66467723	3	4	104	1	0	0	0	0	1	0	0	0	5170	962	34	5	2631	5	EPHA5	4	66467723	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	181465	66467723	124686553	1906	68520											
UBA6	55236	broad.mit.edu	37	chr4	68497427	68497427	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actaaatataaatacttacaAaggctcatttaaatcaaatt	2	6	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:68497427A>C	uc003hdg.3	-	25	2309	c.2257T>G	c.(2257-2259)TTG>GTG	p.L753V		NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	753					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0						AATACTTACAAAGGCTCATTT	0.299													C	68497427	A	C	68497427	3	2	104	1	0	0	0	0	1	0	0	0	16829	28	1	5	937	5	UBA6	4	68497427	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2029704	68497427	122656849	1907	68521											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68930556	68930556	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatgtcattttcatttgtttCtctatggtaattctcatgaa	5	6	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:68930556C>A	uc003hdt.1	-	8	911	c.862G>T	c.(862-864)GAA>TAA	p.E288*	LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron|SYT14L_uc010ihn.2_5'Flank	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	288	Peptidase S1.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						TCATTTGTTTCTCTATGGTAA	0.383													A	68930556	C	A	68930556	4	1	104	1	0	0	0	0	0	1	0	0	16240	922	32	5	466	5	TMPRSS11F	4	68930556	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	433129	68930556	122223720	1908	68522											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68930577	68930577	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctatggtaattctcatgaaGaataattttcctcacatttc	4	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:68930577G>A	uc003hdt.1	-	8	890	c.841C>T	c.(841-843)CTT>TTT	p.L281F	LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron|SYT14L_uc010ihn.2_5'Flank	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	281	Peptidase S1.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						TTCTCATGAAGAATAATTTTC	0.358													A	68930577	G	A	68930577	3	1	104	1	0	0	0	0	1	0	0	0	16240	942	33	4	487	4	TMPRSS11F	4	68930577	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	21	68930577	122223699	1909	68523											
YTHDC1	91746	broad.mit.edu	37	chr4	69198539	69198539	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagcacgaacggaagatgAtaatttctcatgcttctttt	8	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:69198539A>G	uc003hdx.2	-	6	1353	c.1000T>C	c.(1000-1002)TCA>CCA	p.S334P	YTHDC1_uc003hdy.2_Intron	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	334										upper_aerodigestive_tract(1)|ovary(1)	2						ACGGAAGATGATAATTTCTCA	0.323													G	69198539	A	G	69198539	3	3	104	1	0	0	0	0	1	0	0	0	17493	333	12	3	1231	3	YTHDC1	4	69198539	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	267962	69198539	121955737	1910	68524											
YTHDC1	91746	broad.mit.edu	37	chr4	69203598	69203598	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtatcagtagattccattcGatcactttttctttttgatc	6	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:69203598G>A	uc003hdx.2	-	3	504	c.151C>T	c.(151-153)CGA>TGA	p.R51*	YTHDC1_uc003hdy.2_Nonsense_Mutation_p.R51*	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	51										upper_aerodigestive_tract(1)|ovary(1)	2						GATTCCATTCGATCACTTTTT	0.303													A	69203598	G	A	69203598	4	1	104	1	0	0	0	0	0	1	0	0	17493	1066	37	1	2092	1	YTHDC1	4	69203598	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5059	69203598	121950678	1911	68525											
UGT2B15	7366	broad.mit.edu	37	chr4	69513092	69513092	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttgataatttcatgacattCtctttatagctgaaggataa	6	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:69513092C>A	uc011cal.1	-	6	1361	c.1323G>T	c.(1321-1323)GAG>GAT	p.E441D		NM_001076	NP_001067	P54855	UDB15_HUMAN	UDP glycosyltransferase 2B15 precursor	441					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0						TCATGACATTCTCTTTATAGC	0.363													A	69513092	C	A	69513092	3	1	104	1	0	0	0	0	1	0	0	0	16955	912	32	5	1890	5	UGT2B15	4	69513092	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	309494	69513092	121641184	1912	68526											
UGT2B10	7365	broad.mit.edu	37	chr4	69884051	69884051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttaaaattccaggagtttCgcataagccatatgtcagct	7	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:69884051C>T	uc011cao.1	-	5	798	c.662G>A	c.(661-663)CGA>CAA	p.R221Q	UGT2B10_uc011can.1_Missense_Mutation_p.R137Q			P36537	UDB10_HUMAN	RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;	258					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						CCAGGAGTTTCGCATAAGCCA	0.383													T	69884051	C	T	69884051	3	4	104	1	0	0	0	0	1	0	0	0	16953	884	31	1	2444	1	UGT2B10	4	69884051	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	370959	69884051	121270225	1913	68527											
UGT2B10	7365	broad.mit.edu	37	chr4	69885730	69885730	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactacatctttacagaagtTtctaattatgttattatatg	4	5	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:69885730T>G	uc011cao.1	-	4	395	c.259A>C	c.(259-261)AAC>CAC	p.N87H	UGT2B10_uc011can.1_Missense_Mutation_p.N87H			P36537	UDB10_HUMAN	RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;	124					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						TTACAGAAGTTTCTAATTATG	0.308													G	69885730	T	G	69885730	3	3	104	1	0	0	0	0	1	0	0	0	16953	1841	64	5	2851	5	UGT2B10	4	69885730	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1679	69885730	121268546	1914	68528											
UGT2B7	7364	broad.mit.edu	37	chr4	69962911	69962911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttactttgacttttggttcGaaatatttgacatgaagaag	8	4	0	4	rs146308452	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:69962911G>A	uc003heg.3	+	1	719	c.673G>A	c.(673-675)GAA>AAA	p.E225K	UGT2B7_uc010ihq.2_Missense_Mutation_p.E225K	NM_001074	NP_001065	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2B7 precursor	225					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|skin(1)	2						CTTTTGGTTCGAAATATTTGA	0.318													A	69962911	G	A	69962911	3	1	104	1	0	0	0	0	1	0	0	0	16959	1059	37	1	675	1	UGT2B7	4	69962911	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	77181	69962911	121191365	1915	68529											
C4orf7	260436	broad.mit.edu	37	chr4	71096917	71096917	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tactccattttgcagatgaaGaaagttctcctcctgatcac	6	11	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:71096917G>T	uc003hfd.2	+	2	91	c.6G>T	c.(4-6)AAG>AAT	p.K2N		NM_152997	NP_694542	Q8NFU4	FDSCP_HUMAN	chromosome 4 open reading frame 7 precursor	2						extracellular region				central_nervous_system(1)	1						TGCAGATGAAGAAAGTTCTCC	0.318													T	71096917	G	T	71096917	3	4	104	1	0	0	0	0	1	0	0	0	2279	933	33	5	8	5	C4orf7	4	71096917	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1134006	71096917	120057359	1916	68530											
C4orf35	85438	broad.mit.edu	37	chr4	71201477	71201477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaagaagagaaaataaccGaaattgacctaagtgtttta	8	4	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:71201477G>A	uc003hff.2	+	1	807	c.721G>A	c.(721-723)GAA>AAA	p.E241K		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	241						flagellum	calcium ion binding				0		all_hematologic(202;0.196)				GAAAATAACCGAAATTGACCT	0.423													A	71201477	G	A	71201477	3	1	104	1	0	0	0	0	1	0	0	0	2265	1059	37	1	723	1	C4orf35	4	71201477	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	104560	71201477	119952799	1917	68531											
PROL1	58503	broad.mit.edu	37	chr4	71275761	71275761	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcccagcctttaaaagttTttggcaaaaactctttgcca	6	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:71275761T>G	uc003hfi.2	+	3	890	c.716T>G	c.(715-717)TTT>TGT	p.F239C		NM_021225	NP_067048	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	239					regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			large_intestine(1)	1		all_hematologic(202;0.196)				TTTAAAAGTTTTTGGCAAAAA	0.368													G	71275761	T	G	71275761	3	3	104	1	0	0	0	0	1	0	0	0	12554	1841	64	5	722	5	PROL1	4	71275761	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	74284	71275761	119878515	1918	68532											
MUC7	4589	broad.mit.edu	37	chr4	71346516	71346516	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttctttcttttctgcagTtcagtgaaggtcgagaaagg	10	6	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:71346516T>G	uc011cat.1	+	4	343	c.55T>G	c.(55-57)TTC>GTC	p.F19V	MUC7_uc011cau.1_Missense_Mutation_p.F19V|MUC7_uc003hfj.2_Missense_Mutation_p.F19V	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	19						extracellular region	protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4			Lung(101;0.211)			ttttctgcagTTCAGTGAAGG	0.219													G	71346516	T	G	71346516	3	3	104	1	0	0	0	0	1	0	0	0	9981	1739	60	5	61	5	MUC7	4	71346516	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	70755	71346516	119807760	1919	68533											
MUC7	4589	broad.mit.edu	37	chr4	71347004	71347004	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actacaccagctccaccatcTtcctcagctccaccagagac	4	19	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:71347004T>G	uc011cat.1	+	4	831	c.543T>G	c.(541-543)TCT>TCG	p.S181S	MUC7_uc011cau.1_Silent_p.S181S|MUC7_uc003hfj.2_Silent_p.S181S|uc011cav.1_RNA	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	181	1.|Thr-rich.					extracellular region	protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4			Lung(101;0.211)			CTCCACCATCTTCCTCAGCTC	0.572													G	71347004	T	G	71347004	2	3	104	1	0	0	0	0	0	0	0	1	9981	1596	56	5		5	MUC7	4	71347004	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	488	71347004	119807272	1920	68534											
AMTN	401138	broad.mit.edu	37	chr4	71389592	71389592	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatcccctgcaggtctttcCttctttaagtctgataccat	5	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:71389592C>A	uc003hfk.1	+	4	235	c.146C>A	c.(145-147)CCT>CAT	p.P49H	AMTN_uc010ihy.1_Missense_Mutation_p.P48H	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	amelotin precursor	49					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				large_intestine(1)|central_nervous_system(1)	2			Lung(101;0.235)			CAGGTCTTTCCTTCTTTAAGT	0.408													A	71389592	C	A	71389592	3	1	104	1	0	0	0	0	1	0	0	0	590	681	24	5	156	5	AMTN	4	71389592	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	42588	71389592	119764684	1921	68535											
ENAM	10117	broad.mit.edu	37	chr4	71497411	71497411	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaaaggcaaaatgaagattCtcctggtctttctagggctt	9	8	3	2	rs141942524		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:71497411C>A	uc011caw.1	+	3	360	c.79C>A	c.(79-81)CTC>ATC	p.L27I		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	27					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)			AATGAAGATTCTCCTGGTCTT	0.348													A	71497411	C	A	71497411	3	1	104	1	0	0	0	0	1	0	0	0	5112	913	32	5	85	5	ENAM	4	71497411	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	107819	71497411	119656865	1922	68536											
SLC4A4	8671	broad.mit.edu	37	chr4	72423482	72423482	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgaagcatcagcctgacttCatctacctgcgtcatgttcc	7	14	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:72423482C>A	uc003hfy.2	+	22	2934	c.2817C>A	c.(2815-2817)TTC>TTA	p.F939L	SLC4A4_uc010iic.2_Missense_Mutation_p.F939L|SLC4A4_uc010iib.2_Missense_Mutation_p.F855L|SLC4A4_uc003hfz.2_Missense_Mutation_p.F939L|SLC4A4_uc003hgc.3_Missense_Mutation_p.F895L|SLC4A4_uc010iid.2_Missense_Mutation_p.F143L	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	939	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AGCCTGACTTCATCTACCTGC	0.517													A	72423482	C	A	72423482	3	1	104	1	0	0	0	0	1	0	0	0	14656	825	29	5	3020	5	SLC4A4	4	72423482	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	926071	72423482	118730794	1923	68537											
SLC4A4	8671	broad.mit.edu	37	chr4	72429587	72429587	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacagcaacctttcctaagCgatagcaaaccttctgacag	7	12	1	1	rs139191615		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:72429587C>T	uc003hfy.2	+	24	3294	c.3177C>T	c.(3175-3177)AGC>AGT	p.S1059S	SLC4A4_uc010iic.2_Intron|SLC4A4_uc010iib.2_Silent_p.S975S|SLC4A4_uc003hfz.2_Silent_p.S1059S|SLC4A4_uc003hgc.3_Silent_p.S1015S|SLC4A4_uc010iid.2_Silent_p.S263S	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	1059	Required for basolateral targeting.|Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CTTTCCTAAGCGATAGCAAAC	0.393													T	72429587	C	T	72429587	2	4	104	1	0	0	0	0	0	0	0	1	14656	767	27	1		1	SLC4A4	4	72429587	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	6105	72429587	118724689	1924	68538											
GC	2638	broad.mit.edu	37	chr4	72622523	72622523	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagttgggcagctggcatgaAgtaagtgcacacaaaaacgt	13	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:72622523A>C	uc003hge.2	-	8	1093	c.940T>G	c.(940-942)TTC>GTC	p.F314V	GC_uc003hgd.2_Missense_Mutation_p.F192V|GC_uc010iie.2_Missense_Mutation_p.F314V|GC_uc010iif.2_Missense_Mutation_p.F333V	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	314	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GCTGGCATGAAGTAAGTGCAC	0.418													C	72622523	A	C	72622523	3	2	104	1	0	0	0	0	1	0	0	0	6282	72	3	5	504	5	GC	4	72622523	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	192936	72622523	118531753	1925	68539											
NPFFR2	10886	broad.mit.edu	37	chr4	73013275	73013275	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatcatttatggtttcttcAacgagaatttccgccgtggt	8	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:73013275A>G	uc003hgg.2	+	4	1413	c.1315A>G	c.(1315-1317)AAC>GAC	p.N439D	NPFFR2_uc010iig.1_Missense_Mutation_p.N221D|NPFFR2_uc003hgi.2_Missense_Mutation_p.N340D|NPFFR2_uc003hgh.2_Missense_Mutation_p.N337D|NPFFR2_uc003hgj.2_RNA	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	439	Cytoplasmic (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TGGTTTCTTCAACGAGAATTT	0.453													G	73013275	A	G	73013275	3	3	104	1	0	0	0	0	1	0	0	0	10578	130	5	3	1335	3	NPFFR2	4	73013275	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	390752	73013275	118141001	1926	68540											
COX18	285521	broad.mit.edu	37	chr4	73927616	73927616	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtctgaaaacgagacattcCaattttttgtagagcacaaa	7	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:73927616C>A	uc003hgm.1	-	5	848	c.742G>T	c.(742-744)GGA>TGA	p.G248*	COX18_uc003hgn.1_Nonsense_Mutation_p.G97*|COX18_uc011cbc.1_Nonsense_Mutation_p.G249*|COX18_uc010iih.1_Nonsense_Mutation_p.G248*	NM_173827	NP_776188	Q8N8Q8	COX18_HUMAN	mitochondrial COX18 precursor	248					protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity				0	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CGAGACATTCCAATTTTTTGT	0.363													A	73927616	C	A	73927616	4	1	104	1	0	0	0	0	0	1	0	0	3767	603	21	5	267	5	COX18	4	73927616	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	914341	73927616	117226660	1927	68541											
ANKRD17	26057	broad.mit.edu	37	chr4	73956680	73956680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactttgtgtacttaaggtcGaaggtagctggacagaagag	13	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:73956680G>A	uc003hgp.2	-	29	6782	c.6665C>T	c.(6664-6666)TCG>TTG	p.S2222L	ANKRD17_uc003hgo.2_Missense_Mutation_p.S2109L|ANKRD17_uc003hgq.2_Missense_Mutation_p.S1971L|ANKRD17_uc003hgr.2_Missense_Mutation_p.S2221L	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	2222					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACTTAAGGTCGAAGGTAGCTG	0.443													A	73956680	G	A	73956680	3	1	104	1	0	0	0	0	1	0	0	0	646	1059	37	1	1170	1	ANKRD17	4	73956680	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	29064	73956680	117197596	1928	68542											
ANKRD17	26057	broad.mit.edu	37	chr4	73979536	73979536	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtctaactcctctaacaaAatgctggcgtttttgtttgc	7	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:73979536A>C	uc003hgp.2	-	24	4491	c.4374T>G	c.(4372-4374)ATT>ATG	p.I1458M	ANKRD17_uc003hgo.2_Missense_Mutation_p.I1345M|ANKRD17_uc003hgq.2_Missense_Mutation_p.I1207M|ANKRD17_uc003hgr.2_Missense_Mutation_p.I1457M|ANKRD17_uc011cbd.1_Missense_Mutation_p.I1023M	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1458	Potential.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCTCTAACAAAATGCTGGCGT	0.303													C	73979536	A	C	73979536	3	2	104	1	0	0	0	0	1	0	0	0	646	10	1	5	3481	5	ANKRD17	4	73979536	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	22856	73979536	117174740	1929	68543											
ALB	213	broad.mit.edu	37	chr4	74283258	74283258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttttttcaggctattagttCgttacaccaagaaagtaccc	6	9	1	1	rs78575701		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:74283258C>T	uc003hgs.3	+	11	1373	c.1300C>T	c.(1300-1302)CGT>TGT	p.R434C	ALB_uc003hgw.3_Missense_Mutation_p.R242C|ALB_uc011cbe.1_Missense_Mutation_p.R113C|ALB_uc003hgt.3_Missense_Mutation_p.R434C|ALB_uc010iii.2_Missense_Mutation_p.R319C|ALB_uc003hgu.3_Missense_Mutation_p.R284C|ALB_uc003hgv.3_Missense_Mutation_p.R113C|ALB_uc011cbf.1_Missense_Mutation_p.R324C|ALB_uc010iij.2_Intron|ALB_uc003hgx.3_Missense_Mutation_p.R113C	NM_000477	NP_000468	P02768	ALBU_HUMAN	albumin preproprotein	434	Albumin 3.		R -> C (in Liprizzi).		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)|skin(3)	6	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GCTATTAGTTCGTTACACCAA	0.403													T	74283258	C	T	74283258	3	4	104	1	0	0	0	0	1	0	0	0	486	884	31	1	1342	1	ALB	4	74283258	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	303722	74283258	116871018	1930	68544											
ALB	213	broad.mit.edu	37	chr4	74285345	74285345	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgacgataaggagacctgcTttgccgaggaggtactacag	13	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:74285345T>G	uc003hgs.3	+	13	1847	c.1774T>G	c.(1774-1776)TTT>GTT	p.F592V	ALB_uc003hgw.3_Missense_Mutation_p.F400V|ALB_uc011cbe.1_Missense_Mutation_p.F271V|ALB_uc003hgt.3_Missense_Mutation_p.F592V|ALB_uc010iii.2_Missense_Mutation_p.F477V|ALB_uc003hgu.3_Missense_Mutation_p.F442V|ALB_uc003hgv.3_Missense_Mutation_p.F271V|ALB_uc011cbf.1_Missense_Mutation_p.F482V|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_Missense_Mutation_p.F271V	NM_000477	NP_000468	P02768	ALBU_HUMAN	albumin preproprotein	592	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)|skin(3)	6	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GGAGACCTGCTTTGCCGAGGA	0.418													G	74285345	T	G	74285345	3	3	104	1	0	0	0	0	1	0	0	0	486	1609	56	5	1824	5	ALB	4	74285345	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2087	74285345	116868931	1931	68545											
RASSF6	166824	broad.mit.edu	37	chr4	74447980	74447980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactctgaccttagtttctgAttcaaaggctggaatgaaaa	8	7	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:74447980A>G	uc003hhd.1	-	7	814	c.691T>C	c.(691-693)TCA>CCA	p.S231P	RASSF6_uc003hhc.1_Missense_Mutation_p.S199P|RASSF6_uc010iik.1_Intron|RASSF6_uc010iil.1_Missense_Mutation_p.S187P	NM_201431	NP_958834	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family 6	231	Ras-associating.				apoptosis|signal transduction		protein binding			pancreas(2)	2	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TTAGTTTCTGATTCAAAGGCT	0.289													G	74447980	A	G	74447980	3	3	104	1	0	0	0	0	1	0	0	0	13090	333	12	3	438	3	RASSF6	4	74447980	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	162635	74447980	116706296	1932	68546											
RASSF6	166824	broad.mit.edu	37	chr4	74477513	74477513	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggtgagccatcatagtcatCttttcctcctttttgagatg	8	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:74477513C>A	uc003hhd.1	-	2	219	c.96G>T	c.(94-96)AAG>AAT	p.K32N	RASSF6_uc003hhc.1_5'UTR|RASSF6_uc010iik.1_5'UTR|RASSF6_uc010iil.1_Intron	NM_201431	NP_958834	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family 6	32					apoptosis|signal transduction		protein binding			pancreas(2)	2	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCATAGTCATCTTTTCCTCCT	0.333													A	74477513	C	A	74477513	3	1	104	1	0	0	0	0	1	0	0	0	13090	912	32	5	1053	5	RASSF6	4	74477513	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	29533	74477513	116676763	1933	68547											
RCHY1	25898	broad.mit.edu	37	chr4	76419368	76419368	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttcaaacaatggaaAaaatcttcctttggaccaat	4	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:76419368A>C	uc003hik.2	-	4	480	c.348T>G	c.(346-348)TTT>TTG	p.F116L	RCHY1_uc010iio.2_Missense_Mutation_p.F12L|RCHY1_uc003hij.2_Missense_Mutation_p.F116L|RCHY1_uc003hil.2_Missense_Mutation_p.F116L|RCHY1_uc010iip.2_Missense_Mutation_p.F116L|RCHY1_uc010iiq.2_RNA|RCHY1_uc010iir.2_Missense_Mutation_p.F76L	NM_015436	NP_056251	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain	116	CTCHY-type.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			pancreas(1)	1			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AACAATGGAAAAAATCTTCCT	0.269													C	76419368	A	C	76419368	3	2	104	1	0	0	0	0	1	0	0	0	13177	11	1	5	461	5	RCHY1	4	76419368	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1941855	76419368	114734908	1934	68548											
CDKL2	8999	broad.mit.edu	37	chr4	76521479	76521479	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgatggggaatgtctgttCggtttaacaaatggaataga	12	5	1	2	rs146029707		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:76521479C>T	uc003hiq.2	-	10	1893	c.1368G>A	c.(1366-1368)CCG>CCA	p.P456P	CDKL2_uc011cbp.1_Silent_p.P456P	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2	456					sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(2)|stomach(2)|breast(2)|skin(1)	7			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AATGTCTGTTCGGTTTAACAA	0.343													T	76521479	C	T	76521479	2	4	104	1	0	0	0	0	0	0	0	1	3154	871	31	1		1	CDKL2	4	76521479	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	102111	76521479	114632797	1935	68549											
G3BP2	9908	broad.mit.edu	37	chr4	76570777	76570777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgggacctcgatcattgCgcctaatatccctgcgatca	8	15	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:76570777C>T	uc003hir.2	-	12	1451	c.1286G>A	c.(1285-1287)CGC>CAC	p.R429H	G3BP2_uc003his.2_Missense_Mutation_p.R429H|G3BP2_uc003hit.2_Missense_Mutation_p.R396H	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Ras-GTPase activating protein SH3 domain-binding	429	Gly-rich.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(2)|central_nervous_system(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCGATCATTGCGCCTAATATC	0.522													T	76570777	C	T	76570777	3	4	104	1	0	0	0	0	1	0	0	0	6142	768	27	1	166	1	G3BP2	4	76570777	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	49298	76570777	114583499	1936	68550											
USO1	8615	broad.mit.edu	37	chr4	76715020	76715020	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tattggcaaccctccagtttCtttacttcaacagtgcacca	5	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:76715020C>A	uc003hiu.2	+	12	1593	c.1418C>A	c.(1417-1419)TCT>TAT	p.S473Y	USO1_uc003hiv.2_Missense_Mutation_p.S308Y|USO1_uc003hiw.2_Missense_Mutation_p.S308Y	NM_003715	NP_003706	O60763	USO1_HUMAN	USO1 homolog, vesicle docking protein	473	Globular head.|ARM 9.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCTCCAGTTTCTTTACTTCAA	0.423													A	76715020	C	A	76715020	3	1	104	1	0	0	0	0	1	0	0	0	17036	913	32	5	1309	5	USO1	4	76715020	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	144243	76715020	114439256	1937	68551											
PPEF2	5470	broad.mit.edu	37	chr4	76805796	76805796	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctctgttaagatggaactCtttggggtaaaccagcatga	10	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:76805796C>A	uc003hix.2	-	8	1054	c.697G>T	c.(697-699)GAG>TAG	p.E233*	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Nonsense_Mutation_p.E233*	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	233	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGATGGAACTCTTTGGGGTAA	0.403													A	76805796	C	A	76805796	4	1	104	1	0	0	0	0	0	1	0	0	12308	922	32	5	1604	5	PPEF2	4	76805796	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	90776	76805796	114348480	1938	68552											
PPEF2	5470	broad.mit.edu	37	chr4	76811283	76811283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaatatgcgggtcaggaagtCccctagtccagatagaaaag	12	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:76811283C>T	uc003hix.2	-	5	601	c.244G>A	c.(244-246)GAC>AAC	p.D82N	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.D82N	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	82					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GTCAGGAAGTCCCCTAGTCCA	0.418													T	76811283	C	T	76811283	3	4	104	1	0	0	0	0	1	0	0	0	12308	855	30	4	2069	4	PPEF2	4	76811283	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5487	76811283	114342993	1939	68553											
CCDC158	339965	broad.mit.edu	37	chr4	77252554	77252554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccctcaacgagttgttgCttctgttggtagagggatgg	14	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:77252554C>T	uc003hkb.3	-	20	3026	c.2873G>A	c.(2872-2874)AGC>AAC	p.S958N		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	958	Ser-rich.									skin(3)|ovary(2)|pancreas(1)	6						CGAGTTGTTGCTTCTGTTGGT	0.363													T	77252554	C	T	77252554	3	4	104	1	0	0	0	0	1	0	0	0	2790	797	28	2	488	2	CCDC158	4	77252554	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	441271	77252554	113901722	1940	68554											
SHROOM3	57619	broad.mit.edu	37	chr4	77660178	77660179	+	Frame_Shift_Ins	INS	-	-	T													ctggccgggagcgttcaggcINStccatggacaatacttctgc							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:77660178_77660179insT	uc011cbx.1	+	5	1805_1806	c.852_853insT	c.(850-855)GGCTCCfs	p.G284fs	SHROOM3_uc011cbz.1_Frame_Shift_Ins_p.G108fs|SHROOM3_uc003hkf.1_Frame_Shift_Ins_p.G159fs|SHROOM3_uc003hkg.2_Frame_Shift_Ins_p.G62fs	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	284_285					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			AGCGTTCAGGCTCCATGGACAA	0.54													T	77660179	-	T	77660178	7	5	104	1	0	1	1	0	0	0	0	0	14295	784	28	0	870	0	SHROOM3	4	77660178	Frame_Shift_Ins	INS	-	TCGA-BR-8680-01A-11D-2394-08	407624	77660178	113494098	1941	68555	318	2									
SHROOM3	57619	broad.mit.edu	37	chr4	77660179	77660180	+	Frame_Shift_Ins	INS	-	-	T													tggccgggagcgttcaggctINSccatggacaatacttctgct							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:77660178_77660179C>CT	uc011cbx.2	+	4	1805_1806	c.852_853C>CT	c.(850-855)ggctccfs	p.G284fs	SHROOM3_uc011cbz.1_Frame_Shift_Ins_p.G108fs|SHROOM3_uc003hkf.1_Frame_Shift_Ins_p.G159fs|SHROOM3_uc003hkg.3_Frame_Shift_Ins_p.G62fs	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	284					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGCGTTCAGGCTCCATGGACAA	0.54													T	77660180	-	T	77660179	7	5	104	1	0	1	1	0	0	0	0	0	14295	1551	54	0	871	0	SHROOM3	4	77660179	Frame_Shift_Ins	INS	-	TCGA-BR-8680-01A-11D-2394-08	1	77660179	113494097	1942	68556	318	2									
SHROOM3	57619	broad.mit.edu	37	chr4	77700059	77700059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggagcgagtagtgctggGcatcttggccaattaccttt	13	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:77700059G>A	uc011cbx.1	+	11	6673	c.5720G>A	c.(5719-5721)GGC>GAC	p.G1907D	SHROOM3_uc003hkg.2_Missense_Mutation_p.G1685D	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1907	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			GTAGTGCTGGGCATCTTGGCC	0.542													A	77700059	G	A	77700059	3	1	104	1	0	0	0	0	1	0	0	0	14295	1203	42	2	5762	2	SHROOM3	4	77700059	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	39880	77700059	113454217	1943	68557											
FRAS1	80144	broad.mit.edu	37	chr4	79236761	79236761	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttagcttgtgaccaatcCtgtgacagttgtggccccag	10	13	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:79236761C>T	uc003hlb.2	+	16	2132	c.1692C>T	c.(1690-1692)TCC>TCT	p.S564S	FRAS1_uc003hkw.2_Silent_p.S564S|FRAS1_uc003hky.1_Silent_p.S268S|FRAS1_uc003hkz.2_Silent_p.S268S|FRAS1_uc003hla.1_Silent_p.S75S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	564	FU 4.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						GTGACCAATCCTGTGACAGTT	0.483													T	79236761	C	T	79236761	2	4	104	1	0	0	0	0	0	0	0	1	6042	668	24	4		4	FRAS1	4	79236761	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1536702	79236761	111917515	1944	68558											
FRAS1	80144	broad.mit.edu	37	chr4	79400712	79400712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatgcttattgatgacagCgagtatgaagaggaagaaga	13	4	1	6			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:79400712C>T	uc003hlb.2	+	56	8723	c.8283C>T	c.(8281-8283)AGC>AGT	p.S2761S		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2756	Extracellular (Potential).|Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TTGATGACAGCGAGTATGAAG	0.507													T	79400712	C	T	79400712	2	4	104	1	0	0	0	0	0	0	0	1	6042	767	27	1		1	FRAS1	4	79400712	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	163951	79400712	111753564	1945	68559											
FRAS1	80144	broad.mit.edu	37	chr4	79458157	79458157	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatcttttcaggtcaaatcCtttatggccgagtactttgg	8	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:79458157C>A	uc003hlb.2	+	72	11541	c.11101C>A	c.(11101-11103)CTT>ATT	p.L3701I		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3696	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						AGGTCAAATCCTTTATGGCCG	0.373													A	79458157	C	A	79458157	3	1	104	1	0	0	0	0	1	0	0	0	6042	681	24	5	11462	5	FRAS1	4	79458157	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	57445	79458157	111696119	1946	68560											
PAQR3	152559	broad.mit.edu	37	chr4	79845039	79845039	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taccgctctgggactttggaAatgtagaataggaaagcaag	12	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:79845039A>C	uc003hlp.1	-	5	969	c.765T>G	c.(763-765)ATT>ATG	p.I255M	PAQR3_uc003hlm.2_RNA|PAQR3_uc003hln.2_RNA|PAQR3_uc003hlq.1_Missense_Mutation_p.I137M	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	255	Helical; (Potential).					Golgi membrane|integral to membrane	receptor activity				0						GGACTTTGGAAATGTAGAATA	0.378													C	79845039	A	C	79845039	3	2	104	1	0	0	0	0	1	0	0	0	11436	10	1	5	178	5	PAQR3	4	79845039	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	386882	79845039	111309237	1947	68561											
GK2	2712	broad.mit.edu	37	chr4	80328097	80328097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccatctacctgcaaatgacGaagtggaattccacagtcac	7	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:80328097G>A	uc003hlu.2	-	1	1276	c.1258C>T	c.(1258-1260)CGT>TGT	p.R420C		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	glycerol kinase 2	420					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			ovary(2)|skin(2)	4						TGCAAATGACGAAGTGGAATT	0.393													A	80328097	G	A	80328097	3	1	104	1	0	0	0	0	1	0	0	0	6421	1058	37	1	407	1	GK2	4	80328097	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	483058	80328097	110826179	1948	68562											
ANTXR2	118429	broad.mit.edu	37	chr4	80977160	80977160	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcctccaagcctttactgaTtttgcctctgaaaataatat	4	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:80977160T>G	uc003hlz.3	-	4	1067	c.304A>C	c.(304-306)ATC>CTC	p.I102L	ANTXR2_uc003hly.3_Missense_Mutation_p.I102L|ANTXR2_uc003hlx.1_RNA|ANTXR2_uc010ijn.2_Missense_Mutation_p.I102L	NM_001145794	NP_001139266	P58335	ANTR2_HUMAN	anthrax toxin receptor 2 isoform 2	102	Extracellular (Potential).|VWFA.					endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			ovary(1)	1						CCTTTACTGATTTTGCCTCTG	0.303									Juvenile_Hyaline_Fibromatosis				G	80977160	T	G	80977160	3	3	104	1	0	0	0	0	1	0	0	0	712	1493	52	5	1260	5	ANTXR2	4	80977160	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	649063	80977160	110177116	1949	68563											
PRDM8	56978	broad.mit.edu	37	chr4	81124520	81124520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtgcaatgcctccttccGcatgacctccgacctggtgt	9	15	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:81124520G>A	uc010ijo.2	+	8	2743	c.1904G>A	c.(1903-1905)CGC>CAC	p.R635H	PRDM8_uc003hmb.3_Missense_Mutation_p.R635H|PRDM8_uc003hmc.3_Missense_Mutation_p.R635H	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	635	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						GCCTCCTTCCGCATGACCTCC	0.478													A	81124520	G	A	81124520	3	1	104	1	0	0	0	0	1	0	0	0	12462	1087	38	1	1914	1	PRDM8	4	81124520	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	147360	81124520	110029756	1950	68564											
PRDM8	56978	broad.mit.edu	37	chr4	81124564	81124564	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatgaggtcgcaccacaaaAaggagtatgcgatggagccc	12	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:81124564A>C	uc010ijo.2	+	8	2787	c.1948A>C	c.(1948-1950)AAG>CAG	p.K650Q	PRDM8_uc003hmb.3_Missense_Mutation_p.K650Q|PRDM8_uc003hmc.3_Missense_Mutation_p.K650Q	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						GCACCACAAAAAGGAGTATGC	0.597													C	81124564	A	C	81124564	3	2	104	1	0	0	0	0	1	0	0	0	12462	15	1	5	1958	5	PRDM8	4	81124564	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	44	81124564	110029712	1951	68565											
BMP3	651	broad.mit.edu	37	chr4	81967324	81967324	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgccaatgatgccgccatttCtgagccagaaagtgtggtat	11	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:81967324C>A	uc003hmg.3	+	2	1069	c.749C>A	c.(748-750)TCT>TAT	p.S250Y		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	250					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5						GCCGCCATTTCTGAGCCAGAA	0.473													A	81967324	C	A	81967324	3	1	104	1	0	0	0	0	1	0	0	0	1461	913	32	5	755	5	BMP3	4	81967324	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	842760	81967324	109186952	1952	68566											
BMP3	651	broad.mit.edu	37	chr4	81974618	81974618	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctcactcagtattttattCtttgatgaaaataagaatgt	5	6	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:81974618C>A	uc003hmg.3	+	3	1667	c.1347C>A	c.(1345-1347)TTC>TTA	p.F449L		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	449					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5						GTATTTTATTCTTTGATGAAA	0.418													A	81974618	C	A	81974618	3	1	104	1	0	0	0	0	1	0	0	0	1461	912	32	5	1357	5	BMP3	4	81974618	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7294	81974618	109179658	1953	68567											
RASGEF1B	153020	broad.mit.edu	37	chr4	82362046	82362046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgccccacgaagagctgttCgataattatagaaattgctt	8	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:82362046C>T	uc003hmi.1	-	10	1190	c.1046G>A	c.(1045-1047)CGA>CAA	p.R349Q	RASGEF1B_uc003hmj.1_Missense_Mutation_p.R348Q|RASGEF1B_uc010ijq.1_Missense_Mutation_p.R307Q	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	349	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						AAGAGCTGTTCGATAATTATA	0.343													T	82362046	C	T	82362046	3	4	104	1	0	0	0	0	1	0	0	0	13070	884	31	1	395	1	RASGEF1B	4	82362046	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	387428	82362046	108792230	1954	68568											
TMEM150C	441027	broad.mit.edu	37	chr4	83425759	83425759	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatccagctgaagtaaacaAagtaaatacaagaggtagga	9	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:83425759A>C	uc003hmy.1	-	2	130	c.52T>G	c.(52-54)TTG>GTG	p.L18V	TMEM150C_uc011ccj.1_Missense_Mutation_p.L48V	NM_001080506	NP_001073975	B9EJG8	T150C_HUMAN	transmembrane protein 150C	18	Helical; (Potential).					integral to membrane				ovary(1)	1						GAAGTAAACAAAGTAAATACA	0.328													C	83425759	A	C	83425759	3	2	104	1	0	0	0	0	1	0	0	0	16066	11	1	5	725	5	TMEM150C	4	83425759	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1063713	83425759	107728517	1955	68569											
SCD5	79966	broad.mit.edu	37	chr4	83602054	83602054	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtggtccctggaccactcGaagatgtcattctgcagaga	12	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:83602054G>A	uc003hna.2	-	3	695	c.375C>T	c.(373-375)TTC>TTT	p.F125F	SCD5_uc003hnb.3_Silent_p.F125F	NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5 isoform a	125					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			ovary(1)	1		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TGGACCACTCGAAGATGTCAT	0.607													A	83602054	G	A	83602054	2	1	104	1	0	0	0	0	0	0	0	1	13887	1049	37	1		1	SCD5	4	83602054	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	176295	83602054	107552222	1956	68570											
SEC31A	22872	broad.mit.edu	37	chr4	83770112	83770112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctctacaaagtctgtcacGaagctgcatgatatttggct	9	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:83770112G>A	uc003hnf.2	-	20	2511	c.2347C>T	c.(2347-2349)CGT>TGT	p.R783C	SEC31A_uc003hne.2_Missense_Mutation_p.R516C|SEC31A_uc011ccl.1_Missense_Mutation_p.R744C|SEC31A_uc003hnl.2_Missense_Mutation_p.R744C|SEC31A_uc003hng.2_Missense_Mutation_p.R783C|SEC31A_uc003hnh.2_Missense_Mutation_p.R783C|SEC31A_uc003hni.2_Missense_Mutation_p.R783C|SEC31A_uc003hnj.2_Missense_Mutation_p.R744C|SEC31A_uc011ccm.1_Missense_Mutation_p.R778C|SEC31A_uc011ccn.1_Missense_Mutation_p.R783C|SEC31A_uc003hnk.2_Missense_Mutation_p.R744C|SEC31A_uc003hnm.2_Missense_Mutation_p.R783C|SEC31A_uc003hnn.1_Missense_Mutation_p.R783C	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	783					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				AGTCTGTCACGAAGCTGCATG	0.443													A	83770112	G	A	83770112	3	1	104	1	0	0	0	0	1	0	0	0	13998	1058	37	1	1347	1	SEC31A	4	83770112	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	168058	83770112	107384164	1957	68571											
SEC31A	22872	broad.mit.edu	37	chr4	83787987	83787987	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaagcaccaacaggccttcGaatccacttgggcggcttct	10	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:83787987G>A	uc003hnf.2	-	10	1335	c.1171C>T	c.(1171-1173)CGA>TGA	p.R391*	SEC31A_uc003hne.2_Nonsense_Mutation_p.R163*|SEC31A_uc011ccl.1_Nonsense_Mutation_p.R391*|SEC31A_uc003hnl.2_Nonsense_Mutation_p.R391*|SEC31A_uc003hng.2_Nonsense_Mutation_p.R391*|SEC31A_uc003hnh.2_Nonsense_Mutation_p.R391*|SEC31A_uc003hni.2_Nonsense_Mutation_p.R391*|SEC31A_uc003hnj.2_Nonsense_Mutation_p.R391*|SEC31A_uc011ccm.1_Nonsense_Mutation_p.R386*|SEC31A_uc011ccn.1_Nonsense_Mutation_p.R391*|SEC31A_uc003hnk.2_Nonsense_Mutation_p.R391*|SEC31A_uc003hnm.2_Nonsense_Mutation_p.R391*|SEC31A_uc003hnn.1_Nonsense_Mutation_p.R391*|SEC31A_uc003hno.2_Nonsense_Mutation_p.R391*	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	391	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				ACAGGCCTTCGAATCCACTTG	0.458													A	83787987	G	A	83787987	4	1	104	1	0	0	0	0	0	1	0	0	13998	1066	37	1	2563	1	SEC31A	4	83787987	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	17875	83787987	107366289	1958	68572											
THAP9	79725	broad.mit.edu	37	chr4	83840004	83840004	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcatctgtacaggattataAatgttcaagttttgctaata	7	5	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:83840004A>C	uc003hnt.2	+	5	2758	c.2639A>C	c.(2638-2640)AAA>ACA	p.K880T	THAP9_uc003hns.1_Missense_Mutation_p.K736T|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Missense_Mutation_p.K597T	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	880							DNA binding|metal ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5		Hepatocellular(203;0.114)				CAGGATTATAAATGTTCAAGT	0.308													C	83840004	A	C	83840004	3	2	104	1	0	0	0	0	1	0	0	0	15848	14	1	5	2657	5	THAP9	4	83840004	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	52017	83840004	107314272	1959	68573											
WDFY3	23001	broad.mit.edu	37	chr4	85696261	85696261	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaagtgttcaaataaggaaaGatgaagttcatatggtgcat	10	3	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:85696261G>T	uc003hpd.2	-	28	4957	c.4549C>A	c.(4549-4551)CTT>ATT	p.L1517I		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1517						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATAAGGAAAGATGAAGTTCA	0.333													T	85696261	G	T	85696261	3	4	104	1	0	0	0	0	1	0	0	0	17267	942	33	5	6195	5	WDFY3	4	85696261	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1856257	85696261	105458015	1960	68574											
WDFY3	23001	broad.mit.edu	37	chr4	85731148	85731148	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttacatcttcctctaaaagtCtttgaaatggctgtgtattt	6	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:85731148C>A	uc003hpd.2	-	14	2645	c.2237G>T	c.(2236-2238)AGA>ATA	p.R746I	WDFY3_uc003hpf.2_Missense_Mutation_p.R746I	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	746						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTCTAAAAGTCTTTGAAATGG	0.398													A	85731148	C	A	85731148	3	1	104	1	0	0	0	0	1	0	0	0	17267	913	32	5	8606	5	WDFY3	4	85731148	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	34887	85731148	105423128	1961	68575											
MAPK10	5602	broad.mit.edu	37	chr4	87024399	87024399	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catttaataaactaataatcTgaaagagagtggaagggaca	9	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:87024399T>G	uc003hpq.2	-	5	434	c.367_splice	c.e5-1	p.I123_splice	MAPK10_uc010ikg.2_Splice_Site_p.I85_splice|MAPK10_uc003hpr.2_Splice_Site_p.I85_splice|MAPK10_uc003hps.2_Splice_Site_p.I123_splice|MAPK10_uc003hpt.2_Splice_Site_p.I123_splice|MAPK10_uc003hpu.2_Splice_Site_p.I123_splice|MAPK10_uc003hpv.2_Intron|MAPK10_uc010ikh.1_Intron|MAPK10_uc003hpo.2_Intron|MAPK10_uc011ccw.1_Splice_Site_p.I9_splice|MAPK10_uc003hpp.2_Intron	NM_138982	NP_620448	P53779	MK10_HUMAN	mitogen-activated protein kinase 10 isoform 2						innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			stomach(1)|breast(1)|central_nervous_system(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		ACTAATAATCTgaaagagagt	0.269													G	87024399	T	G	87024399	5	3	104	1	0	0	0	0	0	0	1	0	9272	1594	55	5	1070	5	MAPK10	4	87024399	Splice_Site	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1293251	87024399	104129877	1962	68576											
PTPN13	5783	broad.mit.edu	37	chr4	87622475	87622475	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttaacaaagggcttagtaAatctatgggatttctgtcca	8	7	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:87622475A>C	uc003hpz.2	+	7	1196	c.716A>C	c.(715-717)AAA>ACA	p.K239T	PTPN13_uc003hpy.2_Missense_Mutation_p.K239T|PTPN13_uc003hqa.2_Missense_Mutation_p.K239T|PTPN13_uc003hqb.2_Missense_Mutation_p.K239T	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	239						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GGGCTTAGTAAATCTATGGGA	0.353													C	87622475	A	C	87622475	3	2	104	1	0	0	0	0	1	0	0	0	12782	14	1	5	738	5	PTPN13	4	87622475	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	598076	87622475	103531801	1963	68577											
PTPN13	5783	broad.mit.edu	37	chr4	87637691	87637691	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taatccttttagaaccagttCgaagatacaaaacttatcat	4	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:87637691C>T	uc003hpz.2	+	8	1684	c.1204C>T	c.(1204-1206)CGA>TGA	p.R402*	PTPN13_uc003hpy.2_Nonsense_Mutation_p.R402*|PTPN13_uc003hqa.2_Nonsense_Mutation_p.R402*|PTPN13_uc003hqb.2_Nonsense_Mutation_p.R402*	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	402						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGAACCAGTTCGAAGATACAA	0.328													T	87637691	C	T	87637691	4	4	104	1	0	0	0	0	0	1	0	0	12782	876	31	1	1230	1	PTPN13	4	87637691	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	15216	87637691	103516585	1964	68578											
SLC10A6	345274	broad.mit.edu	37	chr4	87744921	87744921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggcccaggagtgatggCaccttcttcattcacctcca	10	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:87744921C>T	uc003hqd.2	-	6	1202	c.1054G>A	c.(1054-1056)GCC>ACC	p.A352T		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	sodium-dependent organic anion transporter	352	Cytoplasmic (Potential).					integral to membrane|plasma membrane	bile acid:sodium symporter activity				0		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GGAGTGATGGCACCTTCTTCA	0.522													T	87744921	C	T	87744921	3	4	104	1	0	0	0	0	1	0	0	0	14378	710	25	2	83	2	SLC10A6	4	87744921	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	107230	87744921	103409355	1965	68579											
DSPP	1834	broad.mit.edu	37	chr4	88533280	88533280	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctcaaagcaaaccactggaGagacatgtcgaaaaatccat	7	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:88533280G>A	uc003hqu.2	+	3	195	c.75G>A	c.(73-75)GAG>GAA	p.E25E		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein preproprotein	25					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			central_nervous_system(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AACCACTGGAGAGACATGTCG	0.338													A	88533280	G	A	88533280	2	1	104	1	0	0	0	0	0	0	0	1	4782	933	33	4		4	DSPP	4	88533280	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	788359	88533280	102620996	1966	68580											
DSPP	1834	broad.mit.edu	37	chr4	88533818	88533818	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actaatggaaatactgataaGaatacccaaaatggggatgt	9	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:88533818G>T	uc003hqu.2	+	4	600	c.480G>T	c.(478-480)AAG>AAT	p.K160N		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein preproprotein	160					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			central_nervous_system(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		ATACTGATAAGAATACCCAAA	0.438													T	88533818	G	T	88533818	3	4	104	1	0	0	0	0	1	0	0	0	4782	933	33	5	490	5	DSPP	4	88533818	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	538	88533818	102620458	1967	68581											
IBSP	3381	broad.mit.edu	37	chr4	88732678	88732678	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaggcagaaaacggcaaCggcagcagcggaggagacaa	15	9	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:88732678C>T	uc003hqx.3	+	7	668	c.570C>T	c.(568-570)AAC>AAT	p.N190N		NM_004967	NP_004958	P21815	SIAL_HUMAN	integrin-binding sialoprotein precursor	190					biomineral tissue development|cell adhesion|ossification						0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		AAAACGGCAACGGCAGCAGCG	0.443													T	88732678	C	T	88732678	2	4	104	1	0	0	0	0	0	0	0	1	7475	535	19	1		1	IBSP	4	88732678	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	198860	88732678	102421598	1968	68582											
MEPE	56955	broad.mit.edu	37	chr4	88767192	88767192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggcagtagtgatgcagCtgaaagtaccaactataatg	11	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:88767192C>T	uc003hqy.2	+	4	1211	c.1172C>T	c.(1171-1173)GCT>GTT	p.A391V	MEPE_uc010ikn.2_Missense_Mutation_p.A278V	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN	matrix, extracellular phosphoglycoprotein with	391					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			ovary(1)|lung(1)|skin(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGTGATGCAGCTGAAAGTACC	0.413													T	88767192	C	T	88767192	3	4	104	1	0	0	0	0	1	0	0	0	9478	797	28	2	1182	2	MEPE	4	88767192	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	34514	88767192	102387084	1969	68583											
PPM1K	152926	broad.mit.edu	37	chr4	89198321	89198321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagacaggcgggcatgactcGaaaaggctttatctatttct	10	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:89198321G>A	uc003hrm.3	-	3	905	c.515C>T	c.(514-516)TCG>TTG	p.S172L	PPM1K_uc010ikp.1_Missense_Mutation_p.S172L|PPM1K_uc003hrn.2_Missense_Mutation_p.S172L	NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN	protein phosphatase 1K (PP2C domain containing)	172	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		GGCATGACTCGAAAAGGCTTT	0.443													A	89198321	G	A	89198321	3	1	104	1	0	0	0	0	1	0	0	0	12343	1059	37	1	623	1	PPM1K	4	89198321	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	431129	89198321	101955955	1970	68584											
HERC6	55008	broad.mit.edu	37	chr4	89311819	89311819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtagatagccaagtgttttCgtggggaaagaacagccatg	13	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:89311819C>T	uc011cdi.1	+	4	635	c.452C>T	c.(451-453)TCG>TTG	p.S151L	HERC6_uc003hrp.1_RNA|HERC6_uc011cdj.1_Missense_Mutation_p.S151L|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	151	RCC1 3.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(3)|ovary(1)|kidney(1)	5		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CAAGTGTTTTCGTGGGGAAAG	0.463													T	89311819	C	T	89311819	3	4	104	1	0	0	0	0	1	0	0	0	7062	893	31	1	263	1	HERC6	4	89311819	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	113498	89311819	101842457	1971	68585											
HERC5	51191	broad.mit.edu	37	chr4	89380566	89380566	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagcagagcacatgctgattCtctcatcagatggaaaacca	9	10	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:89380566C>A	uc003hrt.2	+	2	487	c.334C>A	c.(334-336)CTC>ATC	p.L112I		NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	112	RCC1 1.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CATGCTGATTCTCTCATCAGA	0.338													A	89380566	C	A	89380566	3	1	104	1	0	0	0	0	1	0	0	0	7061	913	32	5	340	5	HERC5	4	89380566	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	68747	89380566	101773710	1972	68586											
HERC5	51191	broad.mit.edu	37	chr4	89390312	89390312	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctgtttgtttacagaattCatatgttaatctgaagagga	8	5	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:89390312C>A	uc003hrt.2	+	9	1292	c.1139C>A	c.(1138-1140)TCA>TAA	p.S380*	HERC5_uc011cdm.1_Nonsense_Mutation_p.S18*	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	380					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TTACAGAATTCATATGTTAAT	0.373													A	89390312	C	A	89390312	4	1	104	1	0	0	0	0	0	1	0	0	7061	838	29	5	1173	5	HERC5	4	89390312	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	9746	89390312	101763964	1973	68587											
FAM13A	10144	broad.mit.edu	37	chr4	89658668	89658668	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtttcgccctcgataattggCtgcagcaaagggcttctccg	11	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:89658668C>G	uc003hse.1	-	21	2809	c.2601G>C	c.(2599-2601)CAG>CAC	p.Q867H	FAM13A_uc011cdp.1_5'UTR|FAM13A_uc003hsa.1_Intron|FAM13A_uc003hsb.1_Missense_Mutation_p.Q541H|FAM13A_uc003hsd.1_Intron|FAM13A_uc003hsc.1_Missense_Mutation_p.Q527H|FAM13A_uc011cdq.1_Missense_Mutation_p.Q513H|FAM13A_uc003hsf.1_Missense_Mutation_p.Q453H|FAM13A_uc003hsg.1_Intron	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	867					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						CGATAATTGGCTGCAGCAAAG	0.532													G	89658668	C	G	89658668	3	3	104	1	0	0	0	0	1	0	0	0	5452	796	28	5	486	5	FAM13A	4	89658668	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	268356	89658668	101495608	1974	68588											
FAM13A	10144	broad.mit.edu	37	chr4	89709072	89709072	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctacagctgatcggatggttCtttctaagagtctggcaaaa	10	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:89709072C>A	uc003hse.1	-	10	1311	c.1103G>T	c.(1102-1104)AGA>ATA	p.R368I	FAM13A_uc003hsb.1_Missense_Mutation_p.R42I|FAM13A_uc003hsd.1_Missense_Mutation_p.R42I|FAM13A_uc003hsc.1_Missense_Mutation_p.R28I|FAM13A_uc011cdq.1_Missense_Mutation_p.R14I|FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsg.1_5'UTR|FAM13A_uc003hsh.1_Missense_Mutation_p.R182I|FAM13A_uc010ikr.1_5'UTR	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	368					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						TCGGATGGTTCTTTCTAAGAG	0.393													A	89709072	C	A	89709072	3	1	104	1	0	0	0	0	1	0	0	0	5452	913	32	5	2028	5	FAM13A	4	89709072	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	50404	89709072	101445204	1975	68589											
MMRN1	22915	broad.mit.edu	37	chr4	90856259	90856259	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgactcttacatgtgagaaGcctattaaagaactagaagt	8	6	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:90856259G>A	uc003hst.2	+	6	1499	c.1428G>A	c.(1426-1428)AAG>AAA	p.K476K	MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Silent_p.K218K	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	476					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CATGTGAGAAGCCTATTAAAG	0.378													A	90856259	G	A	90856259	2	1	104	1	0	0	0	0	0	0	0	1	9670	962	34	2		2	MMRN1	4	90856259	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1147187	90856259	100298017	1976	68590											
MMRN1	22915	broad.mit.edu	37	chr4	90856603	90856603	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagagtctctcagaggtgAatgtgaagacatgttatcca	11	6	2	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:90856603A>G	uc003hst.2	+	6	1843	c.1772A>G	c.(1771-1773)GAA>GGA	p.E591G	MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.E333G	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	591	Potential.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTCAGAGGTGAATGTGAAGAC	0.348													G	90856603	A	G	90856603	3	3	104	1	0	0	0	0	1	0	0	0	9670	246	9	3	1794	3	MMRN1	4	90856603	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	344	90856603	100297673	1977	68591											
MMRN1	22915	broad.mit.edu	37	chr4	90856704	90856704	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcaaacattggctgaagttCtctttccaatggacaataag	7	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:90856704C>A	uc003hst.2	+	6	1944	c.1873C>A	c.(1873-1875)CTC>ATC	p.L625I	MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.L367I	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	625	Potential.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GGCTGAAGTTCTCTTTCCAAT	0.353													A	90856704	C	A	90856704	3	1	104	1	0	0	0	0	1	0	0	0	9670	913	32	5	1895	5	MMRN1	4	90856704	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	101	90856704	100297572	1978	68592											
FAM190A	401145	broad.mit.edu	37	chr4	91230341	91230341	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtccctcaattctgctgcTgttacaaagacaacaacaga	6	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:91230341T>G	uc003hsv.3	+	2	1246	c.906T>G	c.(904-906)GCT>GCG	p.A302A	FAM190A_uc003hsu.3_Silent_p.A302A|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Silent_p.A302A	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	KIAA1680 protein isoform 1	302										large_intestine(1)|ovary(1)	2						ATTCTGCTGCTGTTACAAAGA	0.423													G	91230341	T	G	91230341	2	3	104	1	0	0	0	0	0	0	0	1	5521	1567	55	5		5	FAM190A	4	91230341	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	373637	91230341	99923935	1979	68593											
GRID2	2895	broad.mit.edu	37	chr4	94411866	94411866	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctatttgctttgattgttatCtcatcttacacggcaaacct	5	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:94411866C>A	uc011cdt.1	+	12	2193	c.1935C>A	c.(1933-1935)ATC>ATA	p.I645I	GRID2_uc011cdu.1_Silent_p.I550I	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	645	Helical; (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TGATTGTTATCTCATCTTACA	0.443													A	94411866	C	A	94411866	2	1	104	1	0	0	0	0	0	0	0	1	6772	903	32	5		5	GRID2	4	94411866	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3181525	94411866	96742410	1980	68594											
SMARCAD1	56916	broad.mit.edu	37	chr4	95191964	95191964	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttaatggcattttggcagatGaaatggtaagtgtactttat	10	3	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:95191964G>T	uc003htc.3	+	11	1822	c.1567G>T	c.(1567-1569)GAA>TAA	p.E523*	SMARCAD1_uc003htb.3_Nonsense_Mutation_p.E523*|SMARCAD1_uc003htd.3_Nonsense_Mutation_p.E523*|SMARCAD1_uc010ila.2_Nonsense_Mutation_p.E386*|SMARCAD1_uc011cdw.1_Nonsense_Mutation_p.E93*	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	523	ATP (By similarity).|Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTTGGCAGATGAAATGGTAAG	0.348													T	95191964	G	T	95191964	4	4	104	1	0	0	0	0	0	1	0	0	14772	1291	45	5	1605	5	SMARCAD1	4	95191964	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	780098	95191964	95962312	1981	68595											
RAP1GDS1	5910	broad.mit.edu	37	chr4	99313106	99313106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttttttgtttttacagattCgcttcaagctcagcttatca	5	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:99313106C>T	uc003htx.3	+	6	702	c.512C>T	c.(511-513)TCG>TTG	p.S171L	RAP1GDS1_uc003htu.2_Missense_Mutation_p.S171L|RAP1GDS1_uc003htw.3_Missense_Mutation_p.S172L|RAP1GDS1_uc003htv.3_Missense_Mutation_p.S172L|RAP1GDS1_uc003htz.3_Missense_Mutation_p.S122L|RAP1GDS1_uc003hty.3_Missense_Mutation_p.S123L|RAP1GDS1_uc003hua.3_Intron	NM_001100427	NP_001093897	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1 isoform	171	ARM 2.						binding|GTPase activator activity			ovary(1)|lung(1)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TTTACAGATTCGCTTCAAGCT	0.343			T	NUP98	T-ALL								T	99313106	C	T	99313106	3	4	104	1	0	0	0	0	1	0	0	0	13039	893	31	1	537	1	RAP1GDS1	4	99313106	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4121142	99313106	91841170	1982	68596											
TSPAN5	10098	broad.mit.edu	37	chr4	99399882	99399882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggaacgccacatcgctctCgacttgcattggaatctgtg	10	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:99399882C>T	uc003hub.2	-	5	880	c.530G>A	c.(529-531)CGA>CAA	p.R177Q	TSPAN5_uc011cdz.1_Missense_Mutation_p.R106Q	NM_005723	NP_005714	P62079	TSN5_HUMAN	transmembrane 4 superfamily member 9	177	Extracellular (Potential).					integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		ACATCGCTCTCGACTTGCATT	0.468													T	99399882	C	T	99399882	3	4	104	1	0	0	0	0	1	0	0	0	16647	884	31	1	292	1	TSPAN5	4	99399882	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	86776	99399882	91754394	1983	68597											
EIF4E	1977	broad.mit.edu	37	chr4	99808251	99808251	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctctagccaaaagcgatcGaggtcacttcgtctctgctg	10	12	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:99808251G>A	uc003hue.2	-	5	1901	c.378C>T	c.(376-378)CTC>CTT	p.L126L	EIF4E_uc011cea.1_Silent_p.L146L|EIF4E_uc011ceb.1_Silent_p.L126L|EIF4E_uc011cec.1_Silent_p.L126L	NM_001968	NP_001959	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	126					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			lung(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		AAAAGCGATCGAGGTCACTTC	0.383													A	99808251	G	A	99808251	2	1	104	1	0	0	0	0	0	0	0	1	5028	1045	37	1		1	EIF4E	4	99808251	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	408369	99808251	91346025	1984	68598											
ADH5	128	broad.mit.edu	37	chr4	99993587	99993587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attaaatctttacaacagttCgaatgctgtaaaaggaagca	7	6	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:99993587C>T	uc003hui.2	-	9	1186	c.1106G>A	c.(1105-1107)CGA>CAA	p.R369Q	ADH5_uc003huj.2_3'UTR	NM_000671	NP_000662	P11766	ADHX_HUMAN	class III alcohol dehydrogenase, chi subunit	369					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding	p.R369*(1)		ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	TACAACAGTTCGAATGCTGTA	0.383													T	99993587	C	T	99993587	3	4	104	1	0	0	0	0	1	0	0	0	311	884	31	1	22	1	ADH5	4	99993587	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	185336	99993587	91160689	1985	68599											
ADH6	130	broad.mit.edu	37	chr4	100126121	100126121	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attcaactgcttcattgattTtatcaagattcagagtatga	6	6	4	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:100126121T>G	uc003hup.3	-	8	1158	c.1064A>C	c.(1063-1065)AAA>ACA	p.K355T	uc003hum.1_Intron|ADH6_uc003huo.2_Missense_Mutation_p.K355T|ADH6_uc011cef.1_Missense_Mutation_p.K146T|ADH6_uc010ile.2_3'UTR	NM_000672	NP_000663	P28332	ADH6_HUMAN	class V alcohol dehydrogenase isoform 2	355					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TTCATTGATTTTATCAAGATT	0.378													G	100126121	T	G	100126121	3	3	104	1	0	0	0	0	1	0	0	0	312	1841	64	5	75	5	ADH6	4	100126121	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	132534	100126121	91028155	1986	68600											
ADH6	130	broad.mit.edu	37	chr4	100131414	100131414	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgattttcccttgcaggtaAacctgctggtaccatcagac	8	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:100131414A>C	uc003hup.3	-	5	486	c.392T>G	c.(391-393)TTT>TGT	p.F131C	uc003hum.1_Intron|ADH6_uc003huo.2_Missense_Mutation_p.F131C|ADH6_uc011cef.1_Intron|ADH6_uc010ile.2_Missense_Mutation_p.F131C	NM_000672	NP_000663	P28332	ADH6_HUMAN	class V alcohol dehydrogenase isoform 2	131					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CTTGCAGGTAAACCTGCTGGT	0.353													C	100131414	A	C	100131414	3	2	104	1	0	0	0	0	1	0	0	0	312	14	1	5	759	5	ADH6	4	100131414	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	5293	100131414	91022862	1987	68601											
ADH1A	124	broad.mit.edu	37	chr4	100201343	100201343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtacgtccagtcagtagcaGcatagggttcattgagaggt	14	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:100201343G>A	uc003hur.1	-	7	993	c.922C>T	c.(922-924)CTG>TTG	p.L308L	uc003hum.1_Intron|ADH1A_uc011ceg.1_Silent_p.L308L	NM_000667	NP_000658	P07327	ADH1A_HUMAN	class I alcohol dehydrogenase, alpha subunit	308					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	GTCAGTAGCAGCATAGGGTTC	0.468													A	100201343	G	A	100201343	2	1	104	1	0	0	0	0	0	0	0	1	307	962	34	2		2	ADH1A	4	100201343	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	69929	100201343	90952933	1988	68602											
MTTP	4547	broad.mit.edu	37	chr4	100521856	100521856	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctatgcctgtggatttgcttCtcatcccaatgaagaactcc	7	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:100521856C>A	uc003hvc.3	+	10	1458	c.1202C>A	c.(1201-1203)TCT>TAT	p.S401Y	MTTP_uc011cej.1_Missense_Mutation_p.S428Y	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	401	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GGATTTGCTTCTCATCCCAAT	0.378													A	100521856	C	A	100521856	3	1	104	1	0	0	0	0	1	0	0	0	9964	913	32	5	1236	5	MTTP	4	100521856	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	320513	100521856	90632420	1989	68603											
EMCN	51705	broad.mit.edu	37	chr4	101342465	101342465	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgccttccagcacattcggTacaaacccaccagaacaaat	5	15	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:101342465T>A	uc003hvr.2	-	8	817	c.638A>T	c.(637-639)TAC>TTC	p.Y213F	EMCN_uc011cel.1_Missense_Mutation_p.Y200F|EMCN_uc011cem.1_Intron	NM_016242	NP_057326	Q9ULC0	MUCEN_HUMAN	endomucin isoform 1	213	Cytoplasmic (Potential).					extracellular region|integral to membrane|plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		GCACATTCGGTACAAACCCAC	0.348													A	101342465	T	A	101342465	3	1	104	1	0	0	0	0	1	0	0	0	5086	1638	57	5	163	5	EMCN	4	101342465	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	820609	101342465	89811811	1990	68604											
SLC39A8	64116	broad.mit.edu	37	chr4	103226180	103226180	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttaataacatctttagcattCtttcaaaaaagaaaagtagg	5	5	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:103226180C>T	uc003hwb.1	-	4	1170	c.641G>A	c.(640-642)AGA>AAA	p.R214K	SLC39A8_uc011ceo.1_Missense_Mutation_p.R214K|SLC39A8_uc003hwa.1_Missense_Mutation_p.R147K|SLC39A8_uc003hwc.2_Missense_Mutation_p.R214K	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter),	214	Extracellular (Potential).					integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		CTTTAGCATTCTTTCAAAAAA	0.333													T	103226180	C	T	103226180	3	4	104	1	0	0	0	0	1	0	0	0	14624	913	32	4	838	4	SLC39A8	4	103226180	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1883715	103226180	87928096	1991	68605											
UBE2D3	7323	broad.mit.edu	37	chr4	103747704	103747704	+	Translation_Start_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctcactctctcggtgTatgctcaaaggtccggccaa	10	14	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:103747704T>C	uc003hwk.2	-	2	423	c.-38A>G	c.(-40--36)ATACA>ATGCA		UBE2D3_uc003hwi.2_Translation_Start_Site|UBE2D3_uc003hwj.2_RNA|UBE2D3_uc003hwl.2_Translation_Start_Site|UBE2D3_uc011cet.1_Translation_Start_Site|UBE2D3_uc011ceu.1_Translation_Start_Site|UBE2D3_uc003hwo.2_Translation_Start_Site|UBE2D3_uc003hwp.2_Translation_Start_Site|UBE2D3_uc003hwq.2_Intron|UBE2D3_uc003hwr.2_Translation_Start_Site|uc003hws.1_5'Flank	NM_181887	NP_871616	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3 isoform 1						apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		TCTCTCGGTGTATGCTCAAAG	0.557													C	103747704	T	C	103747704	1	2	104	1	0	0	0	0	0	0	0	0	16847	1653	57	3		3	UBE2D3	4	103747704	Translation_Start_Site	SNP	T	TCGA-BR-8680-01A-11D-2394-08	521524	103747704	87406572	1992	68606											
NHEDC2	133308	broad.mit.edu	37	chr4	103966064	103966064	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctggtcacggcttggaaAgtactgaatgaaaaatccaa	9	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:103966064A>C	uc003hwx.3	-	8	1851	c.979T>G	c.(979-981)TTT>GTT	p.F327V	NHEDC2_uc010iln.1_Missense_Mutation_p.F179V|NHEDC2_uc003hwy.2_Missense_Mutation_p.F327V|NHEDC2_uc011cew.1_Missense_Mutation_p.F270V|NHEDC2_uc011cex.1_Missense_Mutation_p.F270V	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN	Na+/H+ exchanger domain containing 2	327	Helical; (Potential).				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity				0				OV - Ovarian serous cystadenocarcinoma(123;2.3e-08)		CGGCTTGGAAAGTACTGAATG	0.393													C	103966064	A	C	103966064	3	2	104	1	0	0	0	0	1	0	0	0	10401	72	3	5	654	5	NHEDC2	4	103966064	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	218360	103966064	87188212	1993	68607											
BDH2	56898	broad.mit.edu	37	chr4	104003289	104003289	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctatttcttctgcagttgcGaatcttcccgtcttttgtct	7	11	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:104003289G>A	uc003hwz.2	-	9	738	c.633C>T	c.(631-633)TTC>TTT	p.F211F	BDH2_uc003hxa.2_RNA	NM_020139	NP_064524	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	211					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		CTGCAGTTGCGAATCTTCCCG	0.463													A	104003289	G	A	104003289	2	1	104	1	0	0	0	0	0	0	0	1	1391	1049	37	1		1	BDH2	4	104003289	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	37225	104003289	87150987	1994	68608											
CENPE	1062	broad.mit.edu	37	chr4	104080192	104080192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttcaaagcacccaaactcGaatcaaatttttgggcttct	5	11	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:104080192G>A	uc003hxb.1	-	22	2666	c.2576C>T	c.(2575-2577)TCG>TTG	p.S859L	CENPE_uc003hxc.1_Missense_Mutation_p.S834L	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	859	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ACCCAAACTCGAATCAAATTT	0.383													A	104080192	G	A	104080192	3	1	104	1	0	0	0	0	1	0	0	0	3230	1059	37	1	5641	1	CENPE	4	104080192	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	76903	104080192	87074084	1995	68609											
CENPE	1062	broad.mit.edu	37	chr4	104081903	104081903	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctttctgaagatcagtaAtctttccttccaattccaaa	4	10	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:104081903A>C	uc003hxb.1	-	21	2255	c.2165T>G	c.(2164-2166)ATT>AGT	p.I722S	CENPE_uc003hxc.1_Missense_Mutation_p.I697S	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	722	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AAGATCAGTAATCTTTCCTTC	0.299													C	104081903	A	C	104081903	3	2	104	1	0	0	0	0	1	0	0	0	3230	101	4	5	6056	5	CENPE	4	104081903	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1711	104081903	87072373	1996	68610											
CENPE	1062	broad.mit.edu	37	chr4	104098057	104098057	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgaaaaaagcactcacaTtcatcaatttctcgtaataa	3	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:104098057T>C	uc003hxb.1	-	14	1479	c.1389A>G	c.(1387-1389)GAA>GAG	p.E463E	CENPE_uc003hxc.1_Silent_p.E463E	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	463	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AGCACTCACATTCATCAATTT	0.254													C	104098057	T	C	104098057	2	2	104	1	0	0	0	0	0	0	0	1	3230	1507	52	3		3	CENPE	4	104098057	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	16154	104098057	87056219	1997	68611											
CENPE	1062	broad.mit.edu	37	chr4	104116366	104116366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttccatgtaagatacacGtaagagaaattccctatcag	6	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:104116366G>A	uc003hxb.1	-	5	472	c.382C>T	c.(382-384)CGT>TGT	p.R128C	CENPE_uc003hxc.1_Missense_Mutation_p.R128C	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	128	Kinesin-motor.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TAAGATACACGTAAGAGAAAT	0.323													A	104116366	G	A	104116366	3	1	104	1	0	0	0	0	1	0	0	0	3230	1145	40	1	7903	1	CENPE	4	104116366	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	18309	104116366	87037910	1998	68612											
CENPE	1062	broad.mit.edu	37	chr4	104117407	104117407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcattaccatgaaagacacGatctaaacaacaacaacaac	3	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:104117407G>A	uc003hxb.1	-	3	241	c.151C>T	c.(151-153)CGT>TGT	p.R51C	CENPE_uc003hxc.1_Missense_Mutation_p.R51C	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	51	Kinesin-motor.			R -> H (in Ref. 5; BAF83051).	blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGAAAGACACGATCTAaacaa	0.299													A	104117407	G	A	104117407	3	1	104	1	0	0	0	0	1	0	0	0	3230	1058	37	1	8142	1	CENPE	4	104117407	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1041	104117407	87036869	1999	68613											
TET2	54790	broad.mit.edu	37	chr4	106156276	106156276	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttcactaaggattcctttTctgccactaccacaccacca	4	15	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:106156276T>G	uc003hxk.2	+	3	1563	c.1177T>G	c.(1177-1179)TCT>GCT	p.S393A	TET2_uc011cez.1_Missense_Mutation_p.S414A|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.S393A|TET2_uc003hxi.1_Missense_Mutation_p.S393A	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	393					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.(S393_A394)fs*(49_50)(1)		haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGATTCCTTTTCTGCCACTAC	0.458			Mis N|F		MDS								G	106156276	T	G	106156276	3	3	104	1	0	0	0	0	1	0	0	0	15767	1783	62	5	1179	5	TET2	4	106156276	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2038869	106156276	84998000	2000	68614											
TET2	54790	broad.mit.edu	37	chr4	106156313	106156313	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accaccaccatcacaattgcTtctttctccccctcctcctc	1	21	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:106156313T>G	uc003hxk.2	+	3	1600	c.1214T>G	c.(1213-1215)CTT>CGT	p.L405R	TET2_uc011cez.1_Missense_Mutation_p.L426R|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.L405R|TET2_uc003hxi.1_Missense_Mutation_p.L405R	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	405	Pro-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCACAATTGCTTCTTTCTCCC	0.458			Mis N|F		MDS								G	106156313	T	G	106156313	3	3	104	1	0	0	0	0	1	0	0	0	15767	1609	56	5	1216	5	TET2	4	106156313	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	37	106156313	84997963	2001	68615											
TET2	54790	broad.mit.edu	37	chr4	106156805	106156805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatggattgaattgaaggCccctcgttttcaccaagcgg	12	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:106156805C>T	uc003hxk.2	+	3	2092	c.1706C>T	c.(1705-1707)GCC>GTC	p.A569V	TET2_uc011cez.1_Missense_Mutation_p.A590V|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.A569V|TET2_uc003hxi.1_Missense_Mutation_p.A569V	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	569					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GAATTGAAGGCCCCTCGTTTT	0.463			Mis N|F		MDS								T	106156805	C	T	106156805	3	4	104	1	0	0	0	0	1	0	0	0	15767	739	26	2	1708	2	TET2	4	106156805	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	492	106156805	84997471	2002	68616											
PPA2	27068	broad.mit.edu	37	chr4	106377901	106377901	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgtagtgaccagttacattCtctgcaaagacacaaacaaa	6	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:106377901C>A	uc003hxl.2	-	2	179	c.159G>T	c.(157-159)AAG>AAT	p.K53N	PPA2_uc003hxm.2_Missense_Mutation_p.K53N|PPA2_uc003hxn.2_Missense_Mutation_p.K53N|PPA2_uc003hxo.2_Missense_Mutation_p.K53N|PPA2_uc003hxp.2_Intron|PPA2_uc003hxq.2_5'UTR|PPA2_uc003hxr.2_Intron|PPA2_uc011cfa.1_Intron	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN	inorganic pyrophosphatase 2 isoform 1 precursor	53					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			pancreas(1)	1		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		CAGTTACATTCTCTGCAAAGA	0.333													A	106377901	C	A	106377901	3	1	104	1	0	0	0	0	1	0	0	0	12287	927	32	5	889	5	PPA2	4	106377901	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	221096	106377901	84776375	2003	68617											
SGMS2	166929	broad.mit.edu	37	chr4	108824539	108824539	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgacttatttgttcatcaaaGaatgtaagtaatagcccatt	6	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:108824539G>T	uc003hyl.3	+	5	1279	c.724G>T	c.(724-726)GAA>TAA	p.E242*	uc003hym.1_Intron|SGMS2_uc003hyn.2_Nonsense_Mutation_p.E242*|SGMS2_uc003hyo.2_Nonsense_Mutation_p.E242*	NM_001136258	NP_001129730	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	242					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			lung(1)	1				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	GTTCATCAAAGAATGTAAGTA	0.453													T	108824539	G	T	108824539	4	4	104	1	0	0	0	0	0	1	0	0	14215	943	33	5	734	5	SGMS2	4	108824539	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2446638	108824539	82329737	2004	68618											
CYP2U1	113612	broad.mit.edu	37	chr4	108866502	108866502	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatttaaggaattaagacaAattgaaaaggatataaccag	7	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:108866502A>C	uc003hyp.2	+	2	950	c.867A>C	c.(865-867)CAA>CAC	p.Q289H	CYP2U1_uc011cfi.1_Missense_Mutation_p.Q80H	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U,	289					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		AATTAAGACAAATTGAAAAGG	0.403													C	108866502	A	C	108866502	3	2	104	1	0	0	0	0	1	0	0	0	4175	11	1	5	873	5	CYP2U1	4	108866502	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	41963	108866502	82287774	2005	68619											
CYP2U1	113612	broad.mit.edu	37	chr4	108866523	108866523	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgaaaaggatataaccagTttccttaaaaaaatcatcaa	4	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:108866523T>C	uc003hyp.2	+	2	971	c.888T>C	c.(886-888)AGT>AGC	p.S296S	CYP2U1_uc011cfi.1_Silent_p.S87S	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U,	296					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		ATATAACCAGTTTCCTTAAAA	0.403													C	108866523	T	C	108866523	2	2	104	1	0	0	0	0	0	0	0	1	4175	1722	60	3		3	CYP2U1	4	108866523	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	21	108866523	82287753	2006	68620											
CYP2U1	113612	broad.mit.edu	37	chr4	108870649	108870649	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaggacaactaattaaaaaaGaaacctttattccttttggg	6	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:108870649G>T	uc003hyp.2	+	4	1515	c.1432G>T	c.(1432-1434)GAA>TAA	p.E478*	CYP2U1_uc011cfi.1_Nonsense_Mutation_p.E269*	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U,	478					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		AATTAAAAAAGAAACCTTTAT	0.333													T	108870649	G	T	108870649	4	4	104	1	0	0	0	0	0	1	0	0	4175	943	33	5	1446	5	CYP2U1	4	108870649	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4126	108870649	82283627	2007	68621											
AGXT2L1	64850	broad.mit.edu	37	chr4	109663646	109663646	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaatgcaaatcagtcatgtCttgagcctcttactgagcag	8	9	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:109663646C>A	uc003hzc.2	-	13	1675	c.1494G>T	c.(1492-1494)AAG>AAT	p.K498N	AGXT2L1_uc010imc.2_Missense_Mutation_p.K492N|AGXT2L1_uc011cfm.1_Missense_Mutation_p.K458N|AGXT2L1_uc011cfn.1_Missense_Mutation_p.K425N|AGXT2L1_uc011cfo.1_Missense_Mutation_p.K440N	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	alanine-glyoxylate aminotransferase 2-like 1	498					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		TCAGTCATGTCTTGAGCCTCT	0.418													A	109663646	C	A	109663646	3	1	104	1	0	0	0	0	1	0	0	0	406	912	32	5	9	5	AGXT2L1	4	109663646	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	792997	109663646	81490630	2008	68622											
COL25A1	84570	broad.mit.edu	37	chr4	109895713	109895713	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccttttggaccaggaggGccctgaaaaaaagaaagaga	12	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:109895713G>A	uc003hze.1	-	6	972	c.441C>T	c.(439-441)GGC>GGT	p.G147G	COL25A1_uc003hzg.2_Silent_p.G147G|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_5'UTR	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	147	Extracellular (Potential).|Collagen-like 1.					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GACCAGGAGGGCCCTGAAAAA	0.323													A	109895713	G	A	109895713	2	1	104	1	0	0	0	0	0	0	0	1	3684	1190	42	2		2	COL25A1	4	109895713	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	232067	109895713	81258563	2009	68623											
SEC24B	10427	broad.mit.edu	37	chr4	110434991	110434991	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagaattcaactgtggagttCattgcttcttcagattacat	7	8	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:110434991C>A	uc003hzk.2	+	10	2047	c.1992C>A	c.(1990-1992)TTC>TTA	p.F664L	SEC24B_uc003hzl.2_Missense_Mutation_p.F629L|SEC24B_uc011cfp.1_Missense_Mutation_p.F694L|SEC24B_uc011cfq.1_Missense_Mutation_p.F663L|SEC24B_uc011cfr.1_Missense_Mutation_p.F628L	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	664					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTGTGGAGTTCATTGCTTCTT	0.353													A	110434991	C	A	110434991	3	1	104	1	0	0	0	0	1	0	0	0	13995	825	29	5	2030	5	SEC24B	4	110434991	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	539278	110434991	80719285	2010	68624											
SEC24B	10427	broad.mit.edu	37	chr4	110446055	110446055	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagcaaactgcagtggatTtgttccttttaagttcacag	9	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:110446055T>G	uc003hzk.2	+	15	2645	c.2590T>G	c.(2590-2592)TTG>GTG	p.L864V	SEC24B_uc003hzl.2_Missense_Mutation_p.L829V|SEC24B_uc011cfp.1_Missense_Mutation_p.L894V|SEC24B_uc011cfq.1_Missense_Mutation_p.L863V|SEC24B_uc011cfr.1_Missense_Mutation_p.L828V	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	864					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TGCAGTGGATTTGTTCCTTTT	0.353													G	110446055	T	G	110446055	3	3	104	1	0	0	0	0	1	0	0	0	13995	1838	64	5	2648	5	SEC24B	4	110446055	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	11064	110446055	80708221	2011	68625											
SEC24B	10427	broad.mit.edu	37	chr4	110451453	110451453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgctttttagctgtggatCggtccgtttcatcaagtctg	11	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:110451453C>T	uc003hzk.2	+	19	3140	c.3085C>T	c.(3085-3087)CGG>TGG	p.R1029W	SEC24B_uc003hzl.2_Missense_Mutation_p.R994W|SEC24B_uc011cfp.1_Missense_Mutation_p.R1059W|SEC24B_uc011cfq.1_Missense_Mutation_p.R1028W|SEC24B_uc011cfr.1_Missense_Mutation_p.R993W	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	1029					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGCTGTGGATCGGTCCGTTTC	0.378													T	110451453	C	T	110451453	3	4	104	1	0	0	0	0	1	0	0	0	13995	875	31	1	3159	1	SEC24B	4	110451453	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5398	110451453	80702823	2012	68626											
CCDC109B	55013	broad.mit.edu	37	chr4	110605624	110605624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctggaatagaagctcattCggaagccaaaaccagtggac	11	9	1	1	rs149233225		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:110605624C>T	uc011cfs.1	+	6	777	c.638C>T	c.(637-639)TCG>TTG	p.S213L		NM_017918	NP_060388	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	213						integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		GAAGCTCATTCGGAAGCCAAA	0.493													T	110605624	C	T	110605624	3	4	104	1	0	0	0	0	1	0	0	0	2745	893	31	1	660	1	CCDC109B	4	110605624	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	154171	110605624	80548652	2013	68627											
CFI	3426	broad.mit.edu	37	chr4	110687839	110687839	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtgccattctttgggcActgatacggtagtttacaaa	10	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:110687839A>G	uc003hzr.3	-	2	407	c.199T>C	c.(199-201)TGC>CGC	p.C67R	CFI_uc011cft.1_Missense_Mutation_p.C67R|CFI_uc003hzs.3_Missense_Mutation_p.C67R	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	67	Kazal-like.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TTCTTTGGGCACTGATACGGT	0.448													G	110687839	A	G	110687839	3	3	104	1	0	0	0	0	1	0	0	0	3289	159	6	3	1600	3	CFI	4	110687839	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	82215	110687839	80466437	2014	68628											
EGF	1950	broad.mit.edu	37	chr4	110862234	110862234	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttttcattataatgagaaaaGaatctattgggtggatttag	9	2	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:110862234G>T	uc003hzy.3	+	2	712	c.260G>T	c.(259-261)AGA>ATA	p.R87I	EGF_uc011cfu.1_Missense_Mutation_p.R87I|EGF_uc011cfv.1_Missense_Mutation_p.R87I	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	87	LDL-receptor class B 1.|Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AATGAGAAAAGAATCTATTGG	0.373													T	110862234	G	T	110862234	3	4	104	1	0	0	0	0	1	0	0	0	4962	942	33	5	266	5	EGF	4	110862234	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	174395	110862234	80292042	2015	68629											
EGF	1950	broad.mit.edu	37	chr4	110901199	110901199	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggctatgccatcagtaatgAgagtaaacaagaggactggc	13	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:110901199A>C	uc003hzy.3	+	14	2577	c.2125A>C	c.(2125-2127)AGA>CGA	p.R709R	EGF_uc011cfu.1_Silent_p.R667R|EGF_uc011cfv.1_Silent_p.R709R|EGF_uc010imk.2_5'Flank	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	709	Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	ATCAGTAATGAGAGTAAACAA	0.443													C	110901199	A	C	110901199	2	2	104	1	0	0	0	0	0	0	0	1	4962	296	11	5		5	EGF	4	110901199	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	38965	110901199	80253077	2016	68630											
PITX2	5308	broad.mit.edu	37	chr4	111542364	111542364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtccacacagcgatttcttCgcgtgtggacatgtccgggt	13	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:111542364C>T	uc003iad.2	-	4	928	c.346G>A	c.(346-348)GAA>AAA	p.E116K	PITX2_uc003iac.2_Missense_Mutation_p.E123K|PITX2_uc003iae.2_Missense_Mutation_p.E70K|PITX2_uc010iml.2_Intron|PITX2_uc003iaf.2_Missense_Mutation_p.E116K|PITX2_uc003iag.1_Missense_Mutation_p.E123K	NM_153426	NP_700475	Q99697	PITX2_HUMAN	paired-like homeodomain transcription factor 2	116	Homeobox.				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GCGATTTCTTCGCGTGTGGAC	0.617													T	111542364	C	T	111542364	3	4	104	1	0	0	0	0	1	0	0	0	11955	893	31	1	615	1	PITX2	4	111542364	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	641165	111542364	79611912	2017	68631											
C4orf21	55345	broad.mit.edu	37	chr4	113508552	113508552	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactttctttctggaaaccgAatcttgactgctaaaatcct	5	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:113508552A>G	uc003iau.2	-	12	3872	c.3661T>C	c.(3661-3663)TCG>CCG	p.S1221P	C4orf21_uc003iav.2_RNA	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	43						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTGGAAACCGAATCTTGACTG	0.388													G	113508552	A	G	113508552	3	3	104	1	0	0	0	0	1	0	0	0	2254	246	9	3	2721	3	C4orf21	4	113508552	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1966188	113508552	77645724	2018	68632											
C4orf21	55345	broad.mit.edu	37	chr4	113508887	113508887	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggctcaatgctaaacgaaAgaactgctgacttttcacac	7	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:113508887A>C	uc003iau.2	-	12	3537	c.3326T>G	c.(3325-3327)CTT>CGT	p.L1109R	C4orf21_uc003iav.2_RNA	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GCTAAACGAAAGAACTGCTGA	0.413													C	113508887	A	C	113508887	3	2	104	1	0	0	0	0	1	0	0	0	2254	72	3	5	3056	5	C4orf21	4	113508887	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	335	113508887	77645389	2019	68633											
C4orf21	55345	broad.mit.edu	37	chr4	113545027	113545027	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcctttgtcatcatataaAattgcctgtatgaaaacaaa	5	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:113545027A>C	uc003iau.2	-	4	319	c.108T>G	c.(106-108)ATT>ATG	p.I36M	C4orf21_uc003iaw.2_Missense_Mutation_p.I36M	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CATCATATAAAATTGCCTGTA	0.254													C	113545027	A	C	113545027	3	2	104	1	0	0	0	0	1	0	0	0	2254	10	1	5	6306	5	C4orf21	4	113545027	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	36140	113545027	77609249	2020	68634											
ANK2	287	broad.mit.edu	37	chr4	114276905	114276905	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatccacagccacctcagaCgagacaaaggccttgccgct	9	15	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:114276905C>T	uc003ibe.3	+	38	7231	c.7131C>T	c.(7129-7131)GAC>GAT	p.D2377D	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Translation_Start_Site|ANK2_uc011cgb.1_Silent_p.D2392D	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2344					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)		CCACCTCAGACGAGACAAAGG	0.498													T	114276905	C	T	114276905	2	4	104	1	0	0	0	0	0	0	0	1	621	535	19	1		1	ANK2	4	114276905	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	731878	114276905	76877371	2021	68635											
ANK2	287	broad.mit.edu	37	chr4	114278303	114278303	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagattgccccagtgaaagCttttcatcttcatcctcttt	6	12	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:114278303C>T	uc003ibe.3	+	38	8629	c.8529C>T	c.(8527-8529)AGC>AGT	p.S2843S	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Silent_p.S145S|ANK2_uc011cgb.1_Silent_p.S2858S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2810					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)		CCAGTGAAAGCTTTTCATCTT	0.403													T	114278303	C	T	114278303	2	4	104	1	0	0	0	0	0	0	0	1	621	796	28	2		2	ANK2	4	114278303	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1398	114278303	76875973	2022	68636											
ANK2	287	broad.mit.edu	37	chr4	114284541	114284541	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggagcaaattcatcaaattCgaattgaaaatcccaactct	5	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:114284541C>T	uc003ibe.3	+	40	10904	c.10804C>T	c.(10804-10806)CGA>TGA	p.R3602*	ANK2_uc003ibd.3_Nonsense_Mutation_p.R1508*|ANK2_uc003ibf.3_Nonsense_Mutation_p.R1517*|ANK2_uc011cgc.1_Nonsense_Mutation_p.R693*|ANK2_uc003ibg.3_Nonsense_Mutation_p.R501*|ANK2_uc003ibh.3_Nonsense_Mutation_p.R191*|ANK2_uc011cgd.1_Nonsense_Mutation_p.R904*	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3569	Death.				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)		TCATCAAATTCGAATTGAAAA	0.388													T	114284541	C	T	114284541	4	4	104	1	0	0	0	0	0	1	0	0	621	876	31	1	11027	1	ANK2	4	114284541	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	6238	114284541	76869735	2023	68637											
NDST4	64579	broad.mit.edu	37	chr4	115898385	115898385	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatccaaggttgaaggtaaAatttgcaacctgagtgcgca	10	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:115898385A>C	uc003ibu.2	-	3	1703	c.1024T>G	c.(1024-1026)TTT>GTT	p.F342V	NDST4_uc010imw.2_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	342	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTGAAGGTAAAATTTGCAACC	0.323													C	115898385	A	C	115898385	3	2	104	1	0	0	0	0	1	0	0	0	10258	14	1	5	1642	5	NDST4	4	115898385	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1613844	115898385	75255891	2024	68638											
NDST3	9348	broad.mit.edu	37	chr4	118975799	118975799	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaagaccccagaaaacctttCtccttccatctctaaaggtg	5	13	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:118975799C>A	uc003ibx.2	+	2	1137	c.734C>A	c.(733-735)TCT>TAT	p.S245Y	NDST3_uc011cgf.1_Missense_Mutation_p.S245Y|NDST3_uc003ibw.2_Missense_Mutation_p.S245Y	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	245	Lumenal (Potential).|Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						GAAAACCTTTCTCCTTCCATC	0.383													A	118975799	C	A	118975799	3	1	104	1	0	0	0	0	1	0	0	0	10257	913	32	5	736	5	NDST3	4	118975799	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3077414	118975799	72178477	2025	68639											
NDST3	9348	broad.mit.edu	37	chr4	118975970	118975970	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgacattgtccttggAcaggtacattcttgtggata	12	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:118975970A>G	uc003ibx.2	+	2	1308	c.905A>G	c.(904-906)GAC>GGC	p.D302G	NDST3_uc011cgf.1_Missense_Mutation_p.D302G|NDST3_uc003ibw.2_Missense_Mutation_p.D302G	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	302	Lumenal (Potential).|Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						TTGTCCTTGGACAGGTACATT	0.398													G	118975970	A	G	118975970	3	3	104	1	0	0	0	0	1	0	0	0	10257	275	10	3	907	3	NDST3	4	118975970	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	171	118975970	72178306	2026	68640											
PRSS12	8492	broad.mit.edu	37	chr4	119229642	119229642	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catccttatcagtccatccaTcatcacagattgttccccac	3	16	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:119229642T>C	uc003ica.1	-	8	1627	c.1580A>G	c.(1579-1581)GAT>GGT	p.D527G		NM_003619	NP_003610	P56730	NETR_HUMAN	neurotrypsin precursor	527	SRCR 4.					membrane	scavenger receptor activity			skin(1)	1						AGTCCATCCATCATCACAGAT	0.423													C	119229642	T	C	119229642	3	2	104	1	0	0	0	0	1	0	0	0	12615	1435	50	3	1071	3	PRSS12	4	119229642	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	253672	119229642	71924634	2027	68641											
SYNPO2	171024	broad.mit.edu	37	chr4	119951704	119951705	+	Frame_Shift_Ins	INS	-	-	TTCCCAG													gaatagaacggccaaaccctINStcccagggtctgtgaatcag							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:119951703_119951704C>CTTCCCAG	uc010inb.3	+	3	1969_1970	c.1773_1774C>CTTCCCAG	c.(1771-1776)cccttcfs	p.P591fs	SYNPO2_uc010ina.3_Frame_Shift_Ins_p.P591fs|SYNPO2_uc003icm.4_Frame_Shift_Ins_p.P591fs|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Frame_Shift_Ins_p.P519fs|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	591	Pro-rich.					Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.K590N(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CGGCCAAACCCTTCCCAGGGTC	0.54													TTCCCAG	119951705	-	TTCCCAG	119951704	7	5	104	1	0	1	1	0	0	0	0	0	15454	1609	56	0	1788	0	SYNPO2	4	119951704	Frame_Shift_Ins	INS	-	TCGA-BR-8680-01A-11D-2394-08	722062	119951704	71202572	2028	68642											
SYNPO2	171024	broad.mit.edu	37	chr4	119952619	119952619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacacggtgcaggcccacGctgctcgagctcagtctccc	11	17	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:119952619G>A	uc003icm.3	+	4	2885	c.2689G>A	c.(2689-2691)GCT>ACT	p.A897T	SYNPO2_uc010ina.2_Missense_Mutation_p.A897T|SYNPO2_uc010inb.2_Missense_Mutation_p.A897T|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.A825T	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	897						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						GCAGGCCCACGCTGCTCGAGC	0.552													A	119952619	G	A	119952619	3	1	104	1	0	0	0	0	1	0	0	0	15454	1087	38	1	2703	1	SYNPO2	4	119952619	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	915	119952619	71201657	2029	68643											
SYNPO2	171024	broad.mit.edu	37	chr4	119952769	119952769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagccatcagctgcacagCcctccaaaatgggcaagaaa	8	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:119952769C>T	uc003icm.3	+	4	3035	c.2839C>T	c.(2839-2841)CCC>TCC	p.P947S	SYNPO2_uc010ina.2_Missense_Mutation_p.P947S|SYNPO2_uc010inb.2_Missense_Mutation_p.P947S|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.P875S	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	947						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						AGCTGCACAGCCCTCCAAAAT	0.502													T	119952769	C	T	119952769	3	4	104	1	0	0	0	0	1	0	0	0	15454	739	26	2	2853	2	SYNPO2	4	119952769	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	150	119952769	71201507	2030	68644											
SYNPO2	171024	broad.mit.edu	37	chr4	119953078	119953078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcagtgcatccccagtgCctgtgggcattcccacctcg	10	16	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:119953078C>T	uc003icm.3	+	4	3344	c.3148C>T	c.(3148-3150)CCT>TCT	p.P1050S	SYNPO2_uc010ina.2_Missense_Mutation_p.P1050S|SYNPO2_uc010inb.2_Missense_Mutation_p.P1050S|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Intron	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	1050						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						ATCCCCAGTGCCTGTGGGCAT	0.517													T	119953078	C	T	119953078	3	4	104	1	0	0	0	0	1	0	0	0	15454	739	26	2	3162	2	SYNPO2	4	119953078	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	309	119953078	71201198	2031	68645											
USP53	54532	broad.mit.edu	37	chr4	120192574	120192574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggatcatataaacatgaccGagttgtacctcagagtcgag	10	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:120192574G>A	uc003ics.3	+	15	2625	c.1559G>A	c.(1558-1560)CGA>CAA	p.R520Q	USP53_uc003icr.3_Missense_Mutation_p.R520Q|USP53_uc003icu.3_Missense_Mutation_p.R143Q|USP53_uc003ict.2_Missense_Mutation_p.R143Q	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	520					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4						AAACATGACCGAGTTGTACCT	0.398													A	120192574	G	A	120192574	3	1	104	1	0	0	0	0	1	0	0	0	17081	1058	37	1	1605	1	USP53	4	120192574	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	239496	120192574	70961702	2032	68646											
USP53	54532	broad.mit.edu	37	chr4	120213820	120213820	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atggatcaatgttactttgaGaactctctatccacagaatg	7	8	2	2	rs10010374		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:120213820G>A	uc003ics.3	+	18	3742	c.2676G>A	c.(2674-2676)GAG>GAA	p.E892E	USP53_uc003icr.3_Silent_p.E892E|USP53_uc003icu.3_Silent_p.E515E	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	892					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4						GTTACTTTGAGAACTCTCTAT	0.428													A	120213820	G	A	120213820	2	1	104	1	0	0	0	0	0	0	0	1	17081	933	33	4		4	USP53	4	120213820	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	21246	120213820	70940456	2033	68647											
PDE5A	8654	broad.mit.edu	37	chr4	120419777	120419777	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttccgcttggcctggccGctttccccattaatcagcat	8	15	1	0	rs143408453	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:120419777G>A	uc003idh.2	-	21	2762	c.2607C>T	c.(2605-2607)AGC>AGT	p.S869S	uc003ide.3_Intron|PDE5A_uc003idf.2_Silent_p.S827S|PDE5A_uc003idg.2_Silent_p.S817S	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	869					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	TGGCCTGGCCGCTTTCCCCAT	0.488													A	120419777	G	A	120419777	2	1	104	1	0	0	0	0	0	0	0	1	11644	1078	38	1		1	PDE5A	4	120419777	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	205957	120419777	70734499	2034	68648											
C4orf31	79625	broad.mit.edu	37	chr4	121957679	121957679	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagttatcatccacttcttTtttgtagatgcaaaacttgt	6	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:121957679T>G	uc003idq.1	-	4	1974	c.1447A>C	c.(1447-1449)AAA>CAA	p.K483Q		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	483	Fibronectin type-III 2.										0						TCCACTTCTTTTTTGTAGATG	0.428													G	121957679	T	G	121957679	3	3	104	1	0	0	0	0	1	0	0	0	2261	1850	64	5	263	5	C4orf31	4	121957679	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1537902	121957679	69196597	2035	68649											
C4orf31	79625	broad.mit.edu	37	chr4	121958329	121958329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggctttgcctggaaactgCgttctttacctgaattatca	8	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:121958329C>T	uc003idq.1	-	4	1324	c.797G>A	c.(796-798)CGC>CAC	p.R266H		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	266	Fibronectin type-III 1.										0						CTGGAAACTGCGTTCTTTACC	0.458													T	121958329	C	T	121958329	3	4	104	1	0	0	0	0	1	0	0	0	2261	768	27	1	913	1	C4orf31	4	121958329	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	650	121958329	69195947	2036	68650											
QRFPR	84109	broad.mit.edu	37	chr4	122250697	122250697	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccatgcctttgtgctggagaGaaggttttatttactatgca	10	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:122250697G>A	uc010inj.1	-	6	1447	c.1068C>T	c.(1066-1068)TTC>TTT	p.F356F	QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_3'UTR	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	G protein-coupled receptor 103	356	Cytoplasmic (Potential).					plasma membrane	neuropeptide Y receptor activity				0						GTGCTGGAGAGAAGGTTTTAT	0.373													A	122250697	G	A	122250697	2	1	104	1	0	0	0	0	0	0	0	1	12878	933	33	4		4	QRFPR	4	122250697	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	292368	122250697	68903579	2037	68651											
EXOSC9	5393	broad.mit.edu	37	chr4	122732818	122732818	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagctttggagaatgaccaAaaagtaaggtaagtaacttt	9	4	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:122732818A>C	uc003iea.2	+	8	927	c.819A>C	c.(817-819)CAA>CAC	p.Q273H	EXOSC9_uc003idz.2_Missense_Mutation_p.Q273H|EXOSC9_uc003ieb.2_Missense_Mutation_p.Q257H|EXOSC9_uc010inp.1_RNA	NM_005033	NP_005024	Q06265	EXOS9_HUMAN	exosome component 9 isoform 2	273					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding				0						AGAATGACCAAAAAGTAAGGT	0.279													C	122732818	A	C	122732818	3	2	104	1	0	0	0	0	1	0	0	0	5321	11	1	5	849	5	EXOSC9	4	122732818	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	482121	122732818	68421458	2038	68652											
KIAA1109	84162	broad.mit.edu	37	chr4	123160734	123160734	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcaggataagtcagtaggTcaatctcctcttagatctcc	7	11	6	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:123160734T>C	uc003ieh.2	+	27	3942	c.3897T>C	c.(3895-3897)GGT>GGC	p.G1299G	KIAA1109_uc003iei.1_Silent_p.G1052G|KIAA1109_uc010ins.1_Silent_p.G642G|KIAA1109_uc003iek.2_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1299					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AGTCAGTAGGTCAATCTCCTC	0.428													C	123160734	T	C	123160734	2	2	104	1	0	0	0	0	0	0	0	1	8208	1654	58	3		3	KIAA1109	4	123160734	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	427916	123160734	67993542	2039	68653											
KIAA1109	84162	broad.mit.edu	37	chr4	123179988	123179988	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacccatagtgactctgcatTaaaaataaaggtatattatt	5	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:123179988T>C	uc003ieh.2	+	40	6797	c.6752T>C	c.(6751-6753)TTA>TCA	p.L2251S	KIAA1109_uc003iel.1_Missense_Mutation_p.L186S|KIAA1109_uc003iek.2_Missense_Mutation_p.L870S	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2251					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						GACTCTGCATTAAAAATAAAG	0.383													C	123179988	T	C	123179988	3	2	104	1	0	0	0	0	1	0	0	0	8208	1764	61	3	6910	3	KIAA1109	4	123179988	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	19254	123179988	67974288	2040	68654											
KIAA1109	84162	broad.mit.edu	37	chr4	123265632	123265632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtttgtcacggatcaggCgttcaggaggtgcctcattt	13	8	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:123265632C>T	uc003ieh.2	+	72	12694	c.12649C>T	c.(12649-12651)CGT>TGT	p.R4217C	KIAA1109_uc003iem.2_Missense_Mutation_p.R573C|KIAA1109_uc003ien.2_Missense_Mutation_p.R151C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4217					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ACGGATCAGGCGTTCAGGAGG	0.393													T	123265632	C	T	123265632	3	4	104	1	0	0	0	0	1	0	0	0	8208	768	27	1	12935	1	KIAA1109	4	123265632	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	85644	123265632	67888644	2041	68655											
KIAA1109	84162	broad.mit.edu	37	chr4	123274229	123274229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttttcatggtccaaattttCgttcaaaatcttgggccctt	7	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:123274229C>T	uc003ieh.2	+	79	14065	c.14020C>T	c.(14020-14022)CGT>TGT	p.R4674C	KIAA1109_uc003iem.2_Missense_Mutation_p.R1030C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4674					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TCCAAATTTTCGTTCAAAATC	0.368													T	123274229	C	T	123274229	3	4	104	1	0	0	0	0	1	0	0	0	8208	884	31	1	14334	1	KIAA1109	4	123274229	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	8597	123274229	67880047	2042	68656											
ADAD1	132612	broad.mit.edu	37	chr4	123336586	123336586	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcgctataaagcaacgTgttgatgatgcactcacttc	8	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:123336586T>C	uc003ieo.2	+	11	1534	c.1302T>C	c.(1300-1302)CGT>CGC	p.R434R	ADAD1_uc003iep.2_Silent_p.R423R|ADAD1_uc003ieq.2_Silent_p.R416R	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	434	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						TAAAGCAACGTGTTGATGATG	0.373													C	123336586	T	C	123336586	2	2	104	1	0	0	0	0	0	0	0	1	231	1683	59	3		3	ADAD1	4	123336586	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	62357	123336586	67817690	2043	68657											
BBS12	166379	broad.mit.edu	37	chr4	123663068	123663068	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggtgatggcttgcagagtCgtaaacaaaagaagacacat	11	6	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:123663068C>T	uc003ieu.2	+	2	214	c.21C>T	c.(19-21)GTC>GTT	p.V7V		NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	7					cellular protein metabolic process	cilium	ATP binding			ovary(2)	2						CTTGCAGAGTCGTAAACAAAA	0.318									Bardet-Biedl_syndrome				T	123663068	C	T	123663068	2	4	104	1	0	0	0	0	0	0	0	1	1337	871	31	1		1	BBS12	4	123663068	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	326482	123663068	67491208	2044	68658											
NUDT6	11162	broad.mit.edu	37	chr4	123818804	123818804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcttcaggctctgacagGcctcctggaaacttccacat	7	14	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:123818804G>A	uc003iew.2	-	4	560	c.528C>T	c.(526-528)GGC>GGT	p.G176G	FGF2_uc003iev.1_3'UTR|NUDT6_uc003iex.2_Silent_p.G7G	NM_007083	NP_009014	P53370	NUDT6_HUMAN	nudix-type motif 6 isoform a	176	Nudix hydrolase.|Nudix box.					mitochondrion|nucleus	growth factor activity|hydrolase activity				0						GCTCTGACAGGCCTCCTGGAA	0.308													A	123818804	G	A	123818804	2	1	104	1	0	0	0	0	0	0	0	1	10743	1190	42	2		2	NUDT6	4	123818804	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	155736	123818804	67335472	2045	68659											
NUDT6	11162	broad.mit.edu	37	chr4	123838690	123838690	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtgaagcatatcctggTaatctgctgggcccttctct	10	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:123838690T>G	uc003iew.2	-	2	440	c.408A>C	c.(406-408)TTA>TTC	p.L136F	NUDT6_uc003iex.2_5'UTR	NM_007083	NP_009014	P53370	NUDT6_HUMAN	nudix-type motif 6 isoform a	136						mitochondrion|nucleus	growth factor activity|hydrolase activity				0						CATATCCTGGTAATCTGCTGG	0.458													G	123838690	T	G	123838690	3	3	104	1	0	0	0	0	1	0	0	0	10743	1635	57	5	558	5	NUDT6	4	123838690	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	19886	123838690	67315586	2046	68660											
FAT4	79633	broad.mit.edu	37	chr4	126239987	126239987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtttttgagaacgtggcGctgggatatcatgtgggtag	17	4	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:126239987G>A	uc003ifj.3	+	1	2421	c.2421G>A	c.(2419-2421)GCG>GCA	p.A807A		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	807	Extracellular (Potential).|Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AGAACGTGGCGCTGGGATATC	0.453													A	126239987	G	A	126239987	2	1	104	1	0	0	0	0	0	0	0	1	5692	1074	38	1		1	FAT4	4	126239987	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2401297	126239987	64914289	2047	68661											
FAT4	79633	broad.mit.edu	37	chr4	126328095	126328095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgatgatagttttcgcatcGacccagaatccggagatctg	10	10	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:126328095G>A	uc003ifj.3	+	3	5368	c.5368G>A	c.(5368-5370)GAC>AAC	p.D1790N	FAT4_uc011cgp.1_Missense_Mutation_p.D88N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1790	Cadherin 17.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TTTTCGCATCGACCCAGAATC	0.473													A	126328095	G	A	126328095	3	1	104	1	0	0	0	0	1	0	0	0	5692	1058	37	1	5378	1	FAT4	4	126328095	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	88108	126328095	64826181	2048	68662											
FAT4	79633	broad.mit.edu	37	chr4	126328144	126328144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcggttggacagggaacGccgctccaaatattcactgc	12	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:126328144G>A	uc003ifj.3	+	3	5417	c.5417G>A	c.(5416-5418)CGC>CAC	p.R1806H	FAT4_uc011cgp.1_Missense_Mutation_p.R104H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1806	Cadherin 17.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GACAGGGAACGCCGCTCCAAA	0.473													A	126328144	G	A	126328144	3	1	104	1	0	0	0	0	1	0	0	0	5692	1087	38	1	5427	1	FAT4	4	126328144	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	49	126328144	64826132	2049	68663											
FAT4	79633	broad.mit.edu	37	chr4	126371220	126371220	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaagattttggactgaatTcagaagtggagtatttcatt	9	4	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:126371220T>C	uc003ifj.3	+	9	9049	c.9049T>C	c.(9049-9051)TCA>CCA	p.S3017P	FAT4_uc011cgp.1_Missense_Mutation_p.S1315P|FAT4_uc003ifi.1_Missense_Mutation_p.S495P	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3017	Extracellular (Potential).|Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGGACTGAATTCAGAAGTGGA	0.343													C	126371220	T	C	126371220	3	2	104	1	0	0	0	0	1	0	0	0	5692	1783	62	3	9083	3	FAT4	4	126371220	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	43076	126371220	64783056	2050	68664											
FAT4	79633	broad.mit.edu	37	chr4	126372053	126372053	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaagggacaaatgaataTgtgccccgttttgtttccaa	8	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:126372053T>C	uc003ifj.3	+	9	9882	c.9882T>C	c.(9880-9882)TAT>TAC	p.Y3294Y	FAT4_uc011cgp.1_Silent_p.Y1592Y|FAT4_uc003ifi.1_Silent_p.Y772Y	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3294	Cadherin 31.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CAAATGAATATGTGCCCCGTT	0.408													C	126372053	T	C	126372053	2	2	104	1	0	0	0	0	0	0	0	1	5692	1471	51	3		3	FAT4	4	126372053	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	833	126372053	64782223	2051	68665											
FAT4	79633	broad.mit.edu	37	chr4	126372616	126372616	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctataatctctcagttttggCtgttgattcagggaccccct	8	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:126372616C>A	uc003ifj.3	+	9	10445	c.10445C>A	c.(10444-10446)GCT>GAT	p.A3482D	FAT4_uc011cgp.1_Missense_Mutation_p.A1780D|FAT4_uc003ifi.1_Missense_Mutation_p.A960D	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3482	Cadherin 33.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TCAGTTTTGGCTGTTGATTCA	0.453													A	126372616	C	A	126372616	3	1	104	1	0	0	0	0	1	0	0	0	5692	797	28	5	10479	5	FAT4	4	126372616	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	563	126372616	64781660	2052	68666											
FAT4	79633	broad.mit.edu	37	chr4	126400929	126400929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggcgcttgtactcgcagCccatgccaacatggtggcac	12	13	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:126400929C>T	uc003ifj.3	+	14	12507	c.12507C>T	c.(12505-12507)AGC>AGT	p.S4169S	FAT4_uc011cgp.1_Intron|FAT4_uc003ifi.1_Silent_p.S1647S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4169	EGF-like 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GTACTCGCAGCCCATGCCAAC	0.423													T	126400929	C	T	126400929	2	4	104	1	0	0	0	0	0	0	0	1	5692	738	26	2		2	FAT4	4	126400929	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	28313	126400929	64753347	2053	68667											
FAT4	79633	broad.mit.edu	37	chr4	126412663	126412663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcctcgaaggtaccacggtCgcagggccgagggaggacct	16	12	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:126412663C>T	uc003ifj.3	+	17	14686	c.14686C>T	c.(14686-14688)CGC>TGC	p.R4896C	FAT4_uc011cgp.1_Missense_Mutation_p.R3137C|FAT4_uc003ifi.1_Missense_Mutation_p.R2373C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4896	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GTACCACGGTCGCAGGGCCGA	0.522													T	126412663	C	T	126412663	3	4	104	1	0	0	0	0	1	0	0	0	5692	884	31	1	14752	1	FAT4	4	126412663	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	11734	126412663	64741613	2054	68668											
HSPA4L	22824	broad.mit.edu	37	chr4	128739553	128739553	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactccagaagaggaaattgAtcatacaggagccaaaacaa	8	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:128739553A>G	uc003ifm.2	+	13	1905	c.1652A>G	c.(1651-1653)GAT>GGT	p.D551G	HSPA4L_uc010iny.1_Missense_Mutation_p.D510G|HSPA4L_uc011cgr.1_Missense_Mutation_p.D518G	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	551					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						GAGGAAATTGATCATACAGGA	0.299													G	128739553	A	G	128739553	3	3	104	1	0	0	0	0	1	0	0	0	7413	333	12	3	1702	3	HSPA4L	4	128739553	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2326890	128739553	62414723	2055	68669											
PLK4	10733	broad.mit.edu	37	chr4	128804620	128804620	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactattttgaagatagcaaTtatgtgtatctggtattaga	8	3	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:128804620T>G	uc003ifo.2	+	4	494	c.249T>G	c.(247-249)AAT>AAG	p.N83K	PLK4_uc011cgs.1_Missense_Mutation_p.N51K|PLK4_uc011cgt.1_Missense_Mutation_p.N42K	NM_014264	NP_055079	O00444	PLK4_HUMAN	polo-like kinase 4	83	Protein kinase.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						AAGATAGCAATTATGTGTATC	0.313													G	128804620	T	G	128804620	3	3	104	1	0	0	0	0	1	0	0	0	12098	1490	52	5	263	5	PLK4	4	128804620	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	65067	128804620	62349656	2056	68670											
C4orf29	80167	broad.mit.edu	37	chr4	128941239	128941239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgttatattacagatggCttccttagcggtatccaact	7	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:128941239C>T	uc003ifr.2	+	10	932	c.614C>T	c.(613-615)GCT>GTT	p.A205V	C4orf29_uc003ifs.2_Missense_Mutation_p.A99V|C4orf29_uc003ift.2_Missense_Mutation_p.A36V|C4orf29_uc003ifu.2_Missense_Mutation_p.A36V|C4orf29_uc010inz.2_Missense_Mutation_p.A2V|C4orf29_uc003ifv.2_Missense_Mutation_p.A36V	NM_001039717	NP_001034806	Q0P651	CD029_HUMAN	hypothetical protein LOC80167 precursor	205						extracellular region				ovary(1)	1						TTACAGATGGCTTCCTTAGCG	0.368													T	128941239	C	T	128941239	3	4	104	1	0	0	0	0	1	0	0	0	2259	797	28	2	644	2	C4orf29	4	128941239	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	136619	128941239	62213037	2057	68671											
PCDH10	57575	broad.mit.edu	37	chr4	134071595	134071595	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacctggaggtctttctggaGaaccccctggagctgttcca	11	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:134071595G>T	uc003iha.2	+	1	1126	c.300G>T	c.(298-300)GAG>GAT	p.E100D	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.E100D	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	100	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TCTTTCTGGAGAACCCCCTGG	0.557													T	134071595	G	T	134071595	3	4	104	1	0	0	0	0	1	0	0	0	11507	933	33	5	302	5	PCDH10	4	134071595	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5130356	134071595	57082681	2058	68672											
PCDH10	57575	broad.mit.edu	37	chr4	134072121	134072121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatccagctcaacgccaccGacccggacgagggccagaac	11	16	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:134072121G>A	uc003iha.2	+	1	1652	c.826G>A	c.(826-828)GAC>AAC	p.D276N	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.D276N	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	276	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CAACGCCACCGACCCGGACGA	0.627													A	134072121	G	A	134072121	3	1	104	1	0	0	0	0	1	0	0	0	11507	1058	37	1	828	1	PCDH10	4	134072121	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	526	134072121	57082155	2059	68673											
PCDH10	57575	broad.mit.edu	37	chr4	134075511	134075511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctagttgacagacctcgccGagttaacaggtatggactct	10	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:134075511G>A	uc003iha.2	+	2	3507	c.2681G>A	c.(2680-2682)CGA>CAA	p.R894Q		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	894	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		AGACCTCGCCGAGTTAACAGG	0.353													A	134075511	G	A	134075511	3	1	104	1	0	0	0	0	1	0	0	0	11507	1058	37	1	2747	1	PCDH10	4	134075511	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3390	134075511	57078765	2060	68674											
PCDH18	54510	broad.mit.edu	37	chr4	138450792	138450792	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcgtgggtgagttctaatgaGaaattctctggcacgtggtt	14	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:138450792G>T	uc003ihe.3	-	1	2838	c.2451C>A	c.(2449-2451)TTC>TTA	p.F817L	PCDH18_uc003ihf.3_Missense_Mutation_p.F810L|PCDH18_uc011cgz.1_Missense_Mutation_p.F28L|PCDH18_uc003ihg.3_Missense_Mutation_p.F597L|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	817	Cytoplasmic (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					GTTCTAATGAGAAATTCTCTG	0.458													T	138450792	G	T	138450792	3	4	104	1	0	0	0	0	1	0	0	0	11513	933	33	5	972	5	PCDH18	4	138450792	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4375281	138450792	52703484	2061	68675											
PCDH18	54510	broad.mit.edu	37	chr4	138451451	138451451	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttattcttgtgacatgaaAgccactttcagcccctttgg	7	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:138451451A>C	uc003ihe.3	-	1	2179	c.1792T>G	c.(1792-1794)TTT>GTT	p.F598V	PCDH18_uc003ihf.3_Missense_Mutation_p.F591V|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.F378V|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	598	Cadherin 6.|Extracellular (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					GTGACATGAAAGCCACTTTCA	0.443													C	138451451	A	C	138451451	3	2	104	1	0	0	0	0	1	0	0	0	11513	72	3	5	1631	5	PCDH18	4	138451451	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	659	138451451	52702825	2062	68676											
PCDH18	54510	broad.mit.edu	37	chr4	138451957	138451957	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttacagtcaaactatactcaGatctcttttctctatccagt	3	11	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:138451957G>T	uc003ihe.3	-	1	1673	c.1286C>A	c.(1285-1287)TCT>TAT	p.S429Y	PCDH18_uc003ihf.3_Missense_Mutation_p.S422Y|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.S209Y|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	429	Cadherin 4.|Extracellular (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					ACTATACTCAGATCTCTTTTC	0.363													T	138451957	G	T	138451957	3	4	104	1	0	0	0	0	1	0	0	0	11513	942	33	5	2137	5	PCDH18	4	138451957	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	506	138451957	52702319	2063	68677											
PCDH18	54510	broad.mit.edu	37	chr4	138452515	138452515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgctgctcaaaagcagggCtgttgtcattggagtctgaa	12	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:138452515C>T	uc003ihe.3	-	1	1115	c.728G>A	c.(727-729)AGC>AAC	p.S243N	PCDH18_uc003ihf.3_Missense_Mutation_p.S236N|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.S23N|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	243	Extracellular (Potential).|Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					AAAAGCAGGGCTGTTGTCATT	0.463													T	138452515	C	T	138452515	3	4	104	1	0	0	0	0	1	0	0	0	11513	797	28	2	2695	2	PCDH18	4	138452515	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	558	138452515	52701761	2064	68678											
NAA15	80155	broad.mit.edu	37	chr4	140306065	140306065	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatcgtctttttggagcaacGaatccaaagaattttaatga	7	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:140306065G>A	uc003ihu.1	+	18	2491	c.2235G>A	c.(2233-2235)ACG>ACA	p.T745T		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	NMDA receptor regulated 1	745					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2						TTGGAGCAACGAATCCAAAGA	0.284													A	140306065	G	A	140306065	2	1	104	1	0	0	0	0	0	0	0	1	10118	1045	37	1		1	NAA15	4	140306065	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1853550	140306065	50848211	2065	68679											
NAA15	80155	broad.mit.edu	37	chr4	140306076	140306076	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagcaacgaatccaaagaAttttaatgaaacttttctga	7	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:140306076A>C	uc003ihu.1	+	18	2502	c.2246A>C	c.(2245-2247)AAT>ACT	p.N749T		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	NMDA receptor regulated 1	749					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2						AATCCAAAGAATTTTAATGAA	0.303													C	140306076	A	C	140306076	3	2	104	1	0	0	0	0	1	0	0	0	10118	101	4	5	2316	5	NAA15	4	140306076	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	11	140306076	50848200	2066	68680											
CLGN	1047	broad.mit.edu	37	chr4	141315154	141315154	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaatggatgatcatcttcGaaataatctggattaggaat	9	4	3	2	rs76550209	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:141315154G>A	uc011chi.1	-	12	1409	c.1191C>T	c.(1189-1191)TTC>TTT	p.F397F	CLGN_uc003iii.2_Silent_p.F397F	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	397	Lumenal (Potential).|2-4.				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)					GATCATCTTCGAAATAATCTG	0.323													A	141315154	G	A	141315154	2	1	104	1	0	0	0	0	0	0	0	1	3524	1049	37	1		1	CLGN	4	141315154	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1009078	141315154	49839122	2067	68681											
UCP1	7350	broad.mit.edu	37	chr4	141489041	141489041	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcagcccgctgtagagttTcatccgcccttctgttttta	9	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:141489041T>G	uc011chj.1	-	2	293	c.217A>C	c.(217-219)AAA>CAA	p.K73Q	UCP1_uc011chk.1_Missense_Mutation_p.K73Q	NM_021833	NP_068605	P25874	UCP1_HUMAN	uncoupling protein 1	73	Solcar 1.				brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			ovary(1)	1	all_hematologic(180;0.162)					CTGTAGAGTTTCATCCGCCCT	0.557													G	141489041	T	G	141489041	3	3	104	1	0	0	0	0	1	0	0	0	16927	1792	62	5	724	5	UCP1	4	141489041	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	173887	141489041	49665235	2068	68682											
RNF150	57484	broad.mit.edu	37	chr4	142053630	142053630	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccagttcttgccgcgggtCggggcggcgaacttggtgtt	16	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:142053630C>T	uc003iio.1	-	1	987	c.333G>A	c.(331-333)CCG>CCA	p.P111P	RNF150_uc010iok.1_Silent_p.P111P|RNF150_uc003iip.1_Silent_p.P111P	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	ring finger protein 150 precursor	111	Extracellular (Potential).|PA.					integral to membrane	zinc ion binding			ovary(1)	1	all_hematologic(180;0.162)					TGCCGCGGGTCGGGGCGGCGA	0.667													T	142053630	C	T	142053630	2	4	104	1	0	0	0	0	0	0	0	1	13451	871	31	1		1	RNF150	4	142053630	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	564589	142053630	49100646	2069	68683											
GAB1	2549	broad.mit.edu	37	chr4	144390300	144390300	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcctggacagatgggagAcagtccacagaatcagaaac	12	9	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:144390300A>G	uc003ije.2	+	10	2402	c.2043A>G	c.(2041-2043)AGA>AGG	p.R681R	GAB1_uc003ijd.2_Silent_p.R711R|GAB1_uc011chq.1_Silent_p.R578R	NM_002039	NP_002030	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1 isoform b	681					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(2)|lung(1)|skin(1)	4	all_hematologic(180;0.158)					CAGATGGGAGACAGTCCACAG	0.438													G	144390300	A	G	144390300	2	3	104	1	0	0	0	0	0	0	0	1	6148	272	10	3		3	GAB1	4	144390300	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2336670	144390300	46763976	2070	68684											
SMARCA5	8467	broad.mit.edu	37	chr4	144471198	144471198	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttactttgattgaaagagaaAacatggaactagaagaaaag	9	3	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:144471198A>C	uc003ijg.2	+	23	3496	c.3034A>C	c.(3034-3036)AAC>CAC	p.N1012H		NM_003601	NP_003592	O60264	SMCA5_HUMAN	SWI/SNF-related matrix-associated	1012					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding			skin(1)	1	all_hematologic(180;0.158)					TGAAAGAGAAAACATGGAACT	0.343													C	144471198	A	C	144471198	3	2	104	1	0	0	0	0	1	0	0	0	14771	14	1	5	3124	5	SMARCA5	4	144471198	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	80898	144471198	46683078	2071	68685											
HHIP	64399	broad.mit.edu	37	chr4	145573877	145573877	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agagagaagtcttggaaagaGacctagtacttcctctgctc	10	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:145573877G>T	uc003ijs.1	+	2	1055	c.400G>T	c.(400-402)GAC>TAC	p.D134Y	HHIP_uc003ijr.1_Missense_Mutation_p.D134Y	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	134						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CTTGGAAAGAGACCTAGTACT	0.408													T	145573877	G	T	145573877	3	4	104	1	0	0	0	0	1	0	0	0	7092	942	33	5	406	5	HHIP	4	145573877	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1102679	145573877	45580399	2072	68686											
HHIP	64399	broad.mit.edu	37	chr4	145629371	145629371	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggacacagacatgtgcaaCgtgccttattccataccaag	9	11	0	1	rs144126673		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:145629371C>T	uc003ijs.1	+	7	1864	c.1209C>T	c.(1207-1209)AAC>AAT	p.N403N		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	403						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		ACATGTGCAACGTGCCTTATT	0.488													T	145629371	C	T	145629371	2	4	104	1	0	0	0	0	0	0	0	1	7092	535	19	1		1	HHIP	4	145629371	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	55494	145629371	45524905	2073	68687											
OTUD4	54726	broad.mit.edu	37	chr4	146059262	146059262	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttccagagacagatccaattCtcctttttcatcagagggca	7	11	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:146059262C>T	uc003ika.3	-	21	2608	c.2470G>A	c.(2470-2472)GAA>AAA	p.E824K	OTUD4_uc003ijz.3_Missense_Mutation_p.E823K	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	888							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					AGATCCAATTCTCCTTTTTCA	0.413													T	146059262	C	T	146059262	3	4	104	1	0	0	0	0	1	0	0	0	11314	922	32	4	683	4	OTUD4	4	146059262	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	429891	146059262	45095014	2074	68688											
OTUD4	54726	broad.mit.edu	37	chr4	146071967	146071967	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctaccagaatggaaattTtgtccagaagtggaaggttt	10	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:146071967T>G	uc003ika.3	-	12	1002	c.864A>C	c.(862-864)CAA>CAC	p.Q288H	OTUD4_uc003ijz.3_Missense_Mutation_p.Q287H	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	352							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					AATGGAAATTTTGTCCAGAAG	0.413													G	146071967	T	G	146071967	3	3	104	1	0	0	0	0	1	0	0	0	11314	1838	64	5	2325	5	OTUD4	4	146071967	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	12705	146071967	45082309	2075	68689											
OTUD4	54726	broad.mit.edu	37	chr4	146071986	146071986	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtccagaagtggaaggtTttttcatcttcttccctgac	8	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:146071986T>G	uc003ika.3	-	12	983	c.845A>C	c.(844-846)AAA>ACA	p.K282T	OTUD4_uc003ijz.3_Missense_Mutation_p.K281T	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	346							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					AGTGGAAGGTTTTTTCATCTT	0.433													G	146071986	T	G	146071986	3	3	104	1	0	0	0	0	1	0	0	0	11314	1841	64	5	2344	5	OTUD4	4	146071986	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	19	146071986	45082290	2076	68690											
ZNF827	152485	broad.mit.edu	37	chr4	146807209	146807209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctgtcctcaggaagtgCtgatggcaacgcatgtggag	14	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:146807209C>T	uc003ikn.2	-	4	1416	c.1368G>A	c.(1366-1368)CAG>CAA	p.Q456Q	ZNF827_uc003ikm.2_Silent_p.Q456Q|ZNF827_uc010iox.2_Silent_p.Q106Q	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					TCAGGAAGTGCTGATGGCAAC	0.562													T	146807209	C	T	146807209	2	4	104	1	0	0	0	0	0	0	0	1	18177	796	28	2		2	ZNF827	4	146807209	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	735223	146807209	44347067	2077	68691											
ZNF827	152485	broad.mit.edu	37	chr4	146859541	146859541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggaaggcgcttgggctgctCctgcttcctcctgggcattt	14	12	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:146859541C>T	uc003ikn.2	-	1	67	c.19G>A	c.(19-21)GAG>AAG	p.E7K	ZNF827_uc003ikm.2_Missense_Mutation_p.E7K|ZNF827_uc010iox.2_Missense_Mutation_p.E7K	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					TTGGGCTGCTCCTGCTTCCTC	0.368													T	146859541	C	T	146859541	3	4	104	1	0	0	0	0	1	0	0	0	18177	864	30	4	3266	4	ZNF827	4	146859541	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	52332	146859541	44294735	2078	68692											
TMEM184C	55751	broad.mit.edu	37	chr4	148539147	148539147	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaactggagacagtggAttcgacctttagtagcggtc	15	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:148539147A>G	uc003ila.3	+	1	609	c.40A>G	c.(40-42)ATT>GTT	p.I14V		NM_018241	NP_060711	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	14						integral to membrane					0						GAGACAGTGGATTCGACCTTT	0.483											OREG0016353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	148539147	A	G	148539147	3	3	104	1	0	0	0	0	1	0	0	0	16103	333	12	3	42	3	TMEM184C	4	148539147	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1679606	148539147	42615129	2079	68693											
TMEM184C	55751	broad.mit.edu	37	chr4	148554919	148554919	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattgttgttctcataggatTttattatctgtattgagatg	8	3	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:148554919T>G	uc003ila.3	+	9	1452	c.883T>G	c.(883-885)TTT>GTT	p.F295V		NM_018241	NP_060711	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	295	Helical; (Potential).					integral to membrane					0						CTCATAGGATTTTATTATCTG	0.363													G	148554919	T	G	148554919	3	3	104	1	0	0	0	0	1	0	0	0	16103	1841	64	5	917	5	TMEM184C	4	148554919	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	15772	148554919	42599357	2080	68694											
PRMT10	90826	broad.mit.edu	37	chr4	148582140	148582140	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaataagccggactctgaaAtttcacatttgttggcaaat	8	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:148582140A>G	uc003ilc.2	-	7	1145	c.1003T>C	c.(1003-1005)TTT>CTT	p.F335L	PRMT10_uc003ilb.2_5'UTR|PRMT10_uc003ild.2_Missense_Mutation_p.F222L	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10	335						cytoplasm	binding|protein methyltransferase activity			ovary(1)|central_nervous_system(1)	2						GGACTCTGAAATTTCACATTT	0.393													G	148582140	A	G	148582140	3	3	104	1	0	0	0	0	1	0	0	0	12536	101	4	3	1558	3	PRMT10	4	148582140	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	27221	148582140	42572136	2081	68695											
NR3C2	4306	broad.mit.edu	37	chr4	149041348	149041348	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aactttcatgatggtgtattCttcaaaggtgagctgcagtc	10	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:149041348C>T	uc003ilj.3	-	7	2936	c.2602G>A	c.(2602-2604)GAA>AAA	p.E868K	NR3C2_uc003ilk.3_Missense_Mutation_p.E751K|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	868	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ATGGTGTATTCTTCAAAGGTG	0.448													T	149041348	C	T	149041348	3	4	104	1	0	0	0	0	1	0	0	0	10631	922	32	4	364	4	NR3C2	4	149041348	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	459208	149041348	42112928	2082	68696											
LRBA	987	broad.mit.edu	37	chr4	151356761	151356761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaatatcagaggtatcacGctgactgtttcgccaagctc	8	11	2	2	rs139428686		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:151356761G>A	uc010ipj.2	-	47	7528	c.7054C>T	c.(7054-7056)CGT>TGT	p.R2352C	LRBA_uc010ipi.2_Intron|LRBA_uc003ils.3_Missense_Mutation_p.R242C|LRBA_uc003ilt.3_Missense_Mutation_p.R1000C|LRBA_uc003ilu.3_Missense_Mutation_p.R2341C	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2352	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					GAGGTATCACGCTGACTGTTT	0.363													A	151356761	G	A	151356761	3	1	104	1	0	0	0	0	1	0	0	0	8931	1087	38	1	1585	1	LRBA	4	151356761	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2315413	151356761	39797515	2083	68697											
LRBA	987	broad.mit.edu	37	chr4	151773634	151773634	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttatagaagcagttacttcActgacagtcattgaatcttt	6	8	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:151773634A>G	uc010ipj.2	-	23	3702	c.3228T>C	c.(3226-3228)AGT>AGC	p.S1076S	LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Silent_p.S1076S	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1076						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					CAGTTACTTCACTGACAGTCA	0.368													G	151773634	A	G	151773634	2	3	104	1	0	0	0	0	0	0	0	1	8931	156	6	3		3	LRBA	4	151773634	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	416873	151773634	39380642	2084	68698											
LRBA	987	broad.mit.edu	37	chr4	151827471	151827471	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaggctatatcctattAccaagaagcccttacaggca	6	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:151827471A>G	uc010ipj.2	-	12	2054	c.1580T>C	c.(1579-1581)GTA>GCA	p.V527A	LRBA_uc003ilu.3_Missense_Mutation_p.V527A|LRBA_uc010ipk.1_Missense_Mutation_p.V446A	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	527						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					ATATCCTATTACCAAGAAGCC	0.343													G	151827471	A	G	151827471	3	3	104	1	0	0	0	0	1	0	0	0	8931	391	14	3	7199	3	LRBA	4	151827471	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	53837	151827471	39326805	2085	68699											
LRBA	987	broad.mit.edu	37	chr4	151849672	151849672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acttaagtttttttacccatCgtcctttatctccttgaagt	4	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:151849672C>T	uc010ipj.2	-	4	1019	c.545G>A	c.(544-546)CGA>CAA	p.R182Q	LRBA_uc003ilu.3_Missense_Mutation_p.R182Q|LRBA_uc010ipk.1_Missense_Mutation_p.R101Q	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	182						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					TTTTACCCATCGTCCTTTATC	0.368													T	151849672	C	T	151849672	3	4	104	1	0	0	0	0	1	0	0	0	8931	884	31	1	8266	1	LRBA	4	151849672	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	22201	151849672	39304604	2086	68700											
SH3D19	152503	broad.mit.edu	37	chr4	152086764	152086764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcctggtttggctggaattCgaattacagtgggcttcctg	12	8	0	0	rs145229595		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:152086764C>T	uc010ipl.1	-	8	1869	c.779G>A	c.(778-780)CGA>CAA	p.R260Q	SH3D19_uc003imb.2_Missense_Mutation_p.R38Q|SH3D19_uc003imc.2_Intron|SH3D19_uc003ime.2_Missense_Mutation_p.R260Q|SH3D19_uc010ipm.2_Missense_Mutation_p.R260Q	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	SH3 domain containing 19 isoform a	260	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			ovary(1)|skin(1)	2	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GGCTGGAATTCGAATTACAGT	0.408													T	152086764	C	T	152086764	3	4	104	1	0	0	0	0	1	0	0	0	14249	884	31	1	1649	1	SH3D19	4	152086764	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	237092	152086764	39067512	2087	68701											
PET112L	5188	broad.mit.edu	37	chr4	152679967	152679967	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catcaaaaaaagaaaccaaaGaatttggaggtgctgaaaag	9	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:152679967G>T	uc003iml.2	-	2	296	c.284C>A	c.(283-285)TCT>TAT	p.S95Y	PET112L_uc003imm.3_Missense_Mutation_p.S95Y	NM_004564	NP_004555	O75879	GATB_HUMAN	PET112-like precursor	95						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding				0	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)			L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGAAACCAAAGAATTTGGAGG	0.358													T	152679967	G	T	152679967	3	4	104	1	0	0	0	0	1	0	0	0	11734	942	33	5	1437	5	PET112L	4	152679967	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	593203	152679967	38474309	2088	68702											
FBXW7	55294	broad.mit.edu	37	chr4	153332915	153332915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctcagagagcctccagttCgtcgtcttttgctgcccaca	8	15	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:153332915C>T	uc003ims.2	-	2	190	c.41G>A	c.(40-42)CGA>CAA	p.R14Q	FBXW7_uc011cii.1_Missense_Mutation_p.R14Q|FBXW7_uc003imt.2_Missense_Mutation_p.R14Q|FBXW7_uc003imu.2_Missense_Mutation_p.R14Q	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	14					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GCCTCCAGTTCGTCGTCTTTT	0.483			Mis|N|D|F		colorectal|endometrial|T-ALL								T	153332915	C	T	153332915	3	4	104	1	0	0	0	0	1	0	0	0	5769	884	31	1	2542	1	FBXW7	4	153332915	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	652948	153332915	37821361	2089	68703											
TIGD4	201798	broad.mit.edu	37	chr4	153690733	153690733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtatctaaagcagttattGcctcagattttgatggtaaa	9	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:153690733G>A	uc003imy.2	-	2	2206	c.1424C>T	c.(1423-1425)GCA>GTA	p.A475V		NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	475					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			ovary(1)	1	all_hematologic(180;0.093)					AGCAGTTATTGCCTCAGATTT	0.343													A	153690733	G	A	153690733	3	1	104	1	0	0	0	0	1	0	0	0	15895	1319	46	2	118	2	TIGD4	4	153690733	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	357818	153690733	37463543	2090	68704											
TIGD4	201798	broad.mit.edu	37	chr4	153691842	153691842	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agacgtaacatcggaccattAactggtacatttagacactg	8	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:153691842A>C	uc003imy.2	-	2	1097	c.315T>G	c.(313-315)GTT>GTG	p.V105V		NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	105	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			ovary(1)	1	all_hematologic(180;0.093)					TCGGACCATTAACTGGTACAT	0.383													C	153691842	A	C	153691842	2	2	104	1	0	0	0	0	0	0	0	1	15895	349	13	5		5	TIGD4	4	153691842	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1109	153691842	37462434	2091	68705											
FHDC1	85462	broad.mit.edu	37	chr4	153896828	153896828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgactccagacccagaggCggggacccggaggaaggcgg	17	13	0	2	rs144649820		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:153896828C>T	uc003inf.2	+	11	2460	c.2385C>T	c.(2383-2385)GGC>GGT	p.G795G		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	795					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					GACCCAGAGGCGGGGACCCGG	0.612													T	153896828	C	T	153896828	2	4	104	1	0	0	0	0	0	0	0	1	5876	755	27	1		1	FHDC1	4	153896828	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	204986	153896828	37257448	2092	68706											
DCHS2	54798	broad.mit.edu	37	chr4	155242229	155242229	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcatctgcaacaatactaAaatgtaactttccattataa	2	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:155242229A>C	uc003inw.2	-	14	2957	c.2957T>G	c.(2956-2958)TTT>TGT	p.F986C		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	986	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AACAATACTAAAATGTAACTT	0.333													C	155242229	A	C	155242229	3	2	104	1	0	0	0	0	1	0	0	0	4288	14	1	5	5841	5	DCHS2	4	155242229	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1345401	155242229	35912047	2093	68707											
DCHS2	54798	broad.mit.edu	37	chr4	155298497	155298497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatttgcccatcatgagggtCgatccggaatgcctgaggtg	14	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:155298497C>T	uc003inw.2	-	3	334	c.334G>A	c.(334-336)GAC>AAC	p.D112N	DCHS2_uc003inx.2_Missense_Mutation_p.D718N	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	112	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCATGAGGGTCGATCCGGAAT	0.463													T	155298497	C	T	155298497	3	4	104	1	0	0	0	0	1	0	0	0	4288	884	31	1	8604	1	DCHS2	4	155298497	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	56268	155298497	35855779	2094	68708											
FGA	2243	broad.mit.edu	37	chr4	155505592	155505592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaatcagagcatcacccGcagtgccttcataggaggag	10	13	4	1	rs150073296	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:155505592G>A	uc003iod.1	-	6	2343	c.2285C>T	c.(2284-2286)GCG>GTG	p.A762V		NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	762	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGCATCACCCGCAGTGCCTTC	0.542													A	155505592	G	A	155505592	3	1	104	1	0	0	0	0	1	0	0	0	5830	1087	38	1	319	1	FGA	4	155505592	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	207095	155505592	35648684	2095	68709											
RBM46	166863	broad.mit.edu	37	chr4	155717946	155717946	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaaatggatgcagtaaAgttcgaactggtattcagaa	11	5	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:155717946A>C	uc003ioo.2	+	2	215	c.42A>C	c.(40-42)AAA>AAC	p.K14N	RBM46_uc011cim.1_Missense_Mutation_p.K14N|RBM46_uc003iop.1_Missense_Mutation_p.K14N	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	14							nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				GATGCAGTAAAGTTCGAACTG	0.353													C	155717946	A	C	155717946	3	2	104	1	0	0	0	0	1	0	0	0	13140	69	3	5	44	5	RBM46	4	155717946	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	212354	155717946	35436330	2096	68710											
RBM46	166863	broad.mit.edu	37	chr4	155720683	155720683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctacgttagaagatgcaaagGaactggcagcccagtttaca	10	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:155720683G>A	uc003ioo.2	+	4	1542	c.1369G>A	c.(1369-1371)GAA>AAA	p.E457K	RBM46_uc011cim.1_Missense_Mutation_p.E457K|RBM46_uc003iop.1_Missense_Mutation_p.E457K	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	457							nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				AGATGCAAAGGAACTGGCAGC	0.323													A	155720683	G	A	155720683	3	1	104	1	0	0	0	0	1	0	0	0	13140	1175	41	4	1379	4	RBM46	4	155720683	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2737	155720683	35433593	2097	68711											
MAP9	79884	broad.mit.edu	37	chr4	156281545	156281545	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatttcaaggaattatggttTtcagtgatttcttcatttgg	9	4	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:156281545T>G	uc003ios.2	-	7	1089	c.825A>C	c.(823-825)GAA>GAC	p.E275D	MAP9_uc011cin.1_Intron|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.E274D	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	aster-associated protein	275					cell division|mitosis	cytoplasm|microtubule|spindle				ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		AATTATGGTTTTCAGTGATTT	0.328													G	156281545	T	G	156281545	3	3	104	1	0	0	0	0	1	0	0	0	9270	1838	64	5	1150	5	MAP9	4	156281545	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	560862	156281545	34872731	2098	68712											
MAP9	79884	broad.mit.edu	37	chr4	156294541	156294541	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatcatctgatatatgAaagtcattcatttttttatt	3	6	6	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:156294541A>C	uc003ios.2	-	4	492	c.228T>G	c.(226-228)TTT>TTG	p.F76L	MAP9_uc011cin.1_Missense_Mutation_p.F76L|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.F76L|MAP9_uc010iqb.1_Missense_Mutation_p.F4L	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	aster-associated protein	76					cell division|mitosis	cytoplasm|microtubule|spindle				ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CTGATATATGAAAGTCATTCA	0.299													C	156294541	A	C	156294541	3	2	104	1	0	0	0	0	1	0	0	0	9270	243	9	5	1759	5	MAP9	4	156294541	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	12996	156294541	34859735	2099	68713											
GUCY1A3	2982	broad.mit.edu	37	chr4	156632398	156632398	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaactctgtgaaaaaatctTcaagggtaaggaaaacataa	7	6	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:156632398T>G	uc003iov.2	+	7	1617	c.1081T>G	c.(1081-1083)TCA>GCA	p.S361A	GUCY1A3_uc003iou.2_Missense_Mutation_p.S361A|GUCY1A3_uc010iqc.2_Missense_Mutation_p.S361A|GUCY1A3_uc003iow.2_Missense_Mutation_p.S361A|GUCY1A3_uc010iqd.2_Missense_Mutation_p.S360A|GUCY1A3_uc003iox.2_Missense_Mutation_p.S361A|GUCY1A3_uc003ioz.2_Missense_Mutation_p.S126A|GUCY1A3_uc003ioy.2_Missense_Mutation_p.S361A|GUCY1A3_uc010iqe.2_Missense_Mutation_p.S126A|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.S361A	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	361					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GAAAAAATCTTCAAGGGTAAG	0.343													G	156632398	T	G	156632398	3	3	104	1	0	0	0	0	1	0	0	0	6894	1783	62	5	1095	5	GUCY1A3	4	156632398	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	337857	156632398	34521878	2100	68714											
GUCY1B3	2983	broad.mit.edu	37	chr4	156725805	156725805	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcataggacagcggatgcctCgatactgtctttttgggaat	11	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:156725805C>T	uc003ipc.2	+	12	1782	c.1615C>T	c.(1615-1617)CGA>TGA	p.R539*	GUCY1B3_uc011cio.1_Nonsense_Mutation_p.R561*|GUCY1B3_uc011cip.1_Nonsense_Mutation_p.R519*|GUCY1B3_uc003ipd.2_Nonsense_Mutation_p.R467*|GUCY1B3_uc010iqf.2_Nonsense_Mutation_p.R506*|GUCY1B3_uc010iqg.2_Nonsense_Mutation_p.R510*|GUCY1B3_uc011ciq.1_Nonsense_Mutation_p.R467*	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	539	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GCGGATGCCTCGATACTGTCT	0.403													T	156725805	C	T	156725805	4	4	104	1	0	0	0	0	0	1	0	0	6895	876	31	1	1661	1	GUCY1B3	4	156725805	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	93407	156725805	34428471	2101	68715											
CTSO	1519	broad.mit.edu	37	chr4	156847209	156847209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacaaatatagaagaaacGgaatctgcaatacctaaggg	8	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:156847209G>A	uc003ipg.2	-	8	994	c.945C>T	c.(943-945)TCC>TCT	p.S315S		NM_001334	NP_001325	P43234	CATO_HUMAN	cathepsin O preproprotein	315					proteolysis	lysosome	cysteine-type endopeptidase activity				0	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		TAGAAGAAACGGAATCTGCAA	0.303													A	156847209	G	A	156847209	2	1	104	1	0	0	0	0	0	0	0	1	4040	1103	39	1		1	CTSO	4	156847209	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	121404	156847209	34307067	2102	68716											
CTSO	1519	broad.mit.edu	37	chr4	156860584	156860584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagccataattattatacGaacagtcaatgacctgctgg	8	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:156860584G>A	uc003ipg.2	-	4	540	c.491C>T	c.(490-492)TCG>TTG	p.S164L		NM_001334	NP_001325	P43234	CATO_HUMAN	cathepsin O preproprotein	164					proteolysis	lysosome	cysteine-type endopeptidase activity				0	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		ATTATTATACGAACAGTCAAT	0.463													A	156860584	G	A	156860584	3	1	104	1	0	0	0	0	1	0	0	0	4040	1059	37	1	494	1	CTSO	4	156860584	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13375	156860584	34293692	2103	68717											
GRIA2	2891	broad.mit.edu	37	chr4	158257880	158257880	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgcctttatgcagcaaGgatgcgatatttcgccaagg	13	8	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:158257880G>T	uc003ipm.3	+	11	2284	c.1825G>T	c.(1825-1827)GGA>TGA	p.G609*	GRIA2_uc011cit.1_Nonsense_Mutation_p.G562*|GRIA2_uc003ipl.3_Nonsense_Mutation_p.G609*|GRIA2_uc003ipk.3_Nonsense_Mutation_p.G562*|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	609	Cytoplasmic (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TATGCAGCAAGGATGCGATAT	0.403													T	158257880	G	T	158257880	4	4	104	1	0	0	0	0	0	1	0	0	6768	1001	35	5	1867	5	GRIA2	4	158257880	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1397296	158257880	32896396	2104	68718											
GRIA2	2891	broad.mit.edu	37	chr4	158262455	158262455	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttggaggtgtgtggtggttCtttaccctgatcataatctc	12	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:158262455C>A	uc003ipm.3	+	12	2343	c.1884C>A	c.(1882-1884)TTC>TTA	p.F628L	GRIA2_uc011cit.1_Missense_Mutation_p.F581L|GRIA2_uc003ipl.3_Missense_Mutation_p.F628L|GRIA2_uc003ipk.3_Missense_Mutation_p.F581L|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	628	Helical; (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGTGGTGGTTCTTTACCCTGA	0.423													A	158262455	C	A	158262455	3	1	104	1	0	0	0	0	1	0	0	0	6768	912	32	5	1930	5	GRIA2	4	158262455	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4575	158262455	32891821	2105	68719											
GRIA2	2891	broad.mit.edu	37	chr4	158262572	158262572	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctaagcaaacagaaattgcTtatggaacattagactctgg	8	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:158262572T>G	uc003ipm.3	+	12	2460	c.2001T>G	c.(1999-2001)GCT>GCG	p.A667A	GRIA2_uc011cit.1_Silent_p.A620A|GRIA2_uc003ipl.3_Silent_p.A667A|GRIA2_uc003ipk.3_Silent_p.A620A|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	667	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CAGAAATTGCTTATGGAACAT	0.408													G	158262572	T	G	158262572	2	3	104	1	0	0	0	0	0	0	0	1	6768	1596	56	5		5	GRIA2	4	158262572	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	117	158262572	32891704	2106	68720											
RXFP1	59350	broad.mit.edu	37	chr4	159567986	159567986	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttattcgtgatcggaggCtttgacctaaagtttcgtgg	11	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:159567986C>T	uc003ipz.2	+	16	1471	c.1389C>T	c.(1387-1389)GGC>GGT	p.G463G	RXFP1_uc011cja.1_Silent_p.G358G|RXFP1_uc010iqo.2_Silent_p.G415G|RXFP1_uc011cjb.1_Silent_p.G361G|RXFP1_uc010iqk.2_Silent_p.G331G|RXFP1_uc011cjc.1_Silent_p.G382G|RXFP1_uc011cjd.1_Silent_p.G382G|RXFP1_uc010iql.2_Silent_p.G307G|RXFP1_uc011cje.1_Silent_p.G490G|RXFP1_uc010iqm.2_Silent_p.G430G|RXFP1_uc011cjf.1_Silent_p.G332G|RXFP1_uc010iqn.2_Silent_p.G408G	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	463	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TGATCGGAGGCTTTGACCTAA	0.403													T	159567986	C	T	159567986	2	4	104	1	0	0	0	0	0	0	0	1	13759	784	28	2		2	RXFP1	4	159567986	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1305414	159567986	31586290	2107	68721											
FNIP2	57600	broad.mit.edu	37	chr4	159789335	159789335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagaaggacttagtccagcGaatactttatgtcctgacct	9	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:159789335G>A	uc003iqe.3	+	13	1730	c.1547G>A	c.(1546-1548)CGA>CAA	p.R516Q		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	516					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TTAGTCCAGCGAATACTTTAT	0.493													A	159789335	G	A	159789335	3	1	104	1	0	0	0	0	1	0	0	0	5976	1058	37	1	1597	1	FNIP2	4	159789335	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	221349	159789335	31364941	2108	68722											
RAPGEF2	9693	broad.mit.edu	37	chr4	160235815	160235815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtggattccgaagacgacGacgatgaagaagacattgag	13	7	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:160235815G>A	uc003iqg.3	+	3	575	c.265G>A	c.(265-267)GAC>AAC	p.D89N		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	89					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CGAAGACGACGACGATGAAGA	0.478													A	160235815	G	A	160235815	3	1	104	1	0	0	0	0	1	0	0	0	13044	1058	37	1	275	1	RAPGEF2	4	160235815	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	446480	160235815	30918461	2109	68723											
RAPGEF2	9693	broad.mit.edu	37	chr4	160252923	160252923	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaagggatttggaatcTttgttgacagtgtagattca	12	4	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:160252923T>G	uc003iqg.3	+	9	1544	c.1234T>G	c.(1234-1236)TTT>GTT	p.F412V		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	412	PDZ.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ATTTGGAATCTTTGTTGACAG	0.418													G	160252923	T	G	160252923	3	3	104	1	0	0	0	0	1	0	0	0	13044	1609	56	5	1268	5	RAPGEF2	4	160252923	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	17108	160252923	30901353	2110	68724											
FSTL5	56884	broad.mit.edu	37	chr4	162402200	162402200	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttttgggactgcacatcaAcaataaggactctgtccaaa	7	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:162402200A>G	uc003iqh.2	-	13	2016	c.1580T>C	c.(1579-1581)GTT>GCT	p.V527A	FSTL5_uc003iqi.2_Missense_Mutation_p.V526A|FSTL5_uc010iqv.2_Missense_Mutation_p.V517A	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	527						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTGCACATCAACAATAAGGAC	0.328													G	162402200	A	G	162402200	3	3	104	1	0	0	0	0	1	0	0	0	6080	43	2	3	979	3	FSTL5	4	162402200	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2149277	162402200	28752076	2111	68725											
FSTL5	56884	broad.mit.edu	37	chr4	162402250	162402250	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaacataaatgaacttgtcTttgacattaacagctgatgc	7	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:162402250T>G	uc003iqh.2	-	13	1966	c.1530A>C	c.(1528-1530)AAA>AAC	p.K510N	FSTL5_uc003iqi.2_Missense_Mutation_p.K509N|FSTL5_uc010iqv.2_Missense_Mutation_p.K500N	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	510						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGAACTTGTCTTTGACATTAA	0.383													G	162402250	T	G	162402250	3	3	104	1	0	0	0	0	1	0	0	0	6080	1606	56	5	1029	5	FSTL5	4	162402250	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	50	162402250	28752026	2112	68726											
FSTL5	56884	broad.mit.edu	37	chr4	162463795	162463795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacctaagactggcagttaCcccaggctctctagcctgac	9	15	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:162463795C>T	uc003iqh.2	-	9	1502	c.1066G>A	c.(1066-1068)GTA>ATA	p.V356I	FSTL5_uc003iqi.2_Missense_Mutation_p.V355I|FSTL5_uc010iqv.2_Missense_Mutation_p.V355I	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	356	Ig-like 2.					extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTGGCAGTTACCCCAGGCTCT	0.433													T	162463795	C	T	162463795	3	4	104	1	0	0	0	0	1	0	0	0	6080	507	18	4	1509	4	FSTL5	4	162463795	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	61545	162463795	28690481	2113	68727											
NPY1R	4886	broad.mit.edu	37	chr4	164247294	164247294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggttgattatcagctgatgtCgttccacagcaatgagaacc	10	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:164247294C>T	uc003iqm.1	-	2	679	c.413G>A	c.(412-414)CGA>CAA	p.R138Q	NPY1R_uc011cjj.1_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	138	Cytoplasmic (Potential).				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			lung(1)|pancreas(1)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAGCTGATGTCGTTCCACAGC	0.443													T	164247294	C	T	164247294	3	4	104	1	0	0	0	0	1	0	0	0	10608	884	31	1	749	1	NPY1R	4	164247294	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1783499	164247294	26906982	2114	68728											
TKTL2	84076	broad.mit.edu	37	chr4	164393208	164393208	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgatcctccactgtgataActcggccgcctgtggctttt	10	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:164393208A>C	uc003iqp.3	-	1	1840	c.1679T>G	c.(1678-1680)GTT>GGT	p.V560G		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	560						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CACTGTGATAACTCGGCCGCC	0.517													C	164393208	A	C	164393208	3	2	104	1	0	0	0	0	1	0	0	0	15933	43	2	5	205	5	TKTL2	4	164393208	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	145914	164393208	26761068	2115	68729											
TKTL2	84076	broad.mit.edu	37	chr4	164394533	164394533	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccctgttgccacgtcaacAaacggcaatcggggggtagg	14	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:164394533A>C	uc003iqp.3	-	1	515	c.354T>G	c.(352-354)TTT>TTG	p.F118L		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	118						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCACGTCAACAAACGGCAATC	0.537													C	164394533	A	C	164394533	3	2	104	1	0	0	0	0	1	0	0	0	15933	127	5	5	1530	5	TKTL2	4	164394533	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1325	164394533	26759743	2116	68730											
TRIM61	391712	broad.mit.edu	37	chr4	165891030	165891030	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgtagatccttccaggacAtaatgatgcaggagagacag	11	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:165891030A>G	uc003iqw.2	-	3	736	c.125T>C	c.(124-126)ATG>ACG	p.M42T		NM_001012414	NP_001012414	Q5EBN2	TRI61_HUMAN	tripartite motif-containing 61	42	RING-type.					intracellular	zinc ion binding			skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		CTTCCAGGACATAATGATGCA	0.488													G	165891030	A	G	165891030	3	3	104	1	0	0	0	0	1	0	0	0	16533	217	8	3	512	3	TRIM61	4	165891030	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1496497	165891030	25263246	2117	68731											
TMEM192	201931	broad.mit.edu	37	chr4	166021968	166021968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaatgggtttgtgtaatttCctgggcacttgtcctcattt	9	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:166021968C>T	uc003iqz.3	-	3	350	c.251G>A	c.(250-252)GGA>GAA	p.G84E		NM_001100389	NP_001093859	Q8IY95	TM192_HUMAN	transmembrane protein 192	84	Lumenal (Potential).					Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		TGTGTAATTTCCTGGGCACTT	0.398													T	166021968	C	T	166021968	3	4	104	1	0	0	0	0	1	0	0	0	16112	855	30	4	580	4	TMEM192	4	166021968	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	130938	166021968	25132308	2118	68732											
KLHL2	11275	broad.mit.edu	37	chr4	166141156	166141156	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgaaaaacactgcccagtgAcagtgaatccttggcatatg	9	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:166141156A>G	uc003irb.2	+	2	356	c.97A>G	c.(97-99)ACA>GCA	p.T33A	KLHL2_uc011cjm.1_Missense_Mutation_p.T37A|KLHL2_uc003irc.2_5'UTR	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	33					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		CTGCCCAGTGACAGTGAATCC	0.373													G	166141156	A	G	166141156	3	3	104	1	0	0	0	0	1	0	0	0	8374	275	10	3	145	3	KLHL2	4	166141156	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	119188	166141156	25013120	2119	68733											
KLHL2	11275	broad.mit.edu	37	chr4	166232625	166232625	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttattataggtttgtcatCtgtggaagcatacaacataa	7	6	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:166232625C>T	uc003irb.2	+	11	1506	c.1247C>T	c.(1246-1248)TCT>TTT	p.S416F	KLHL2_uc011cjm.1_Missense_Mutation_p.S420F|KLHL2_uc003irc.2_Missense_Mutation_p.S328F|KLHL2_uc010ira.2_Missense_Mutation_p.S69F	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	416	Kelch 3.				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GGTTTGTCATCTGTGGAAGCA	0.368													T	166232625	C	T	166232625	3	4	104	1	0	0	0	0	1	0	0	0	8374	913	32	4	1331	4	KLHL2	4	166232625	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	91469	166232625	24921651	2120	68734											
CPE	1363	broad.mit.edu	37	chr4	166403472	166403472	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgccaatctccatggaggaGaccttgtggccaattatcca	9	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:166403472G>T	uc003irg.3	+	4	1028	c.751G>T	c.(751-753)GAC>TAC	p.D251Y		NM_001873	NP_001864	P16870	CBPE_HUMAN	carboxypeptidase E preproprotein	251					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCATGGAGGAGACCTTGTGGC	0.403													T	166403472	G	T	166403472	3	4	104	1	0	0	0	0	1	0	0	0	3799	942	33	5	765	5	CPE	4	166403472	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	170847	166403472	24750804	2121	68735											
TLL1	7092	broad.mit.edu	37	chr4	166999181	166999181	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctggccaccgaatcaaatTagtaagtgagcacatccttt	7	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:166999181T>G	uc003irh.1	+	18	3088	c.2441T>G	c.(2440-2442)TTA>TGA	p.L814*	TLL1_uc011cjn.1_Nonsense_Mutation_p.L837*|TLL1_uc011cjo.1_Nonsense_Mutation_p.L638*	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	814	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CGAATCAAATTAGTAAGTGAG	0.453													G	166999181	T	G	166999181	4	3	104	1	0	0	0	0	0	1	0	0	15942	1768	61	5	2511	5	TLL1	4	166999181	Nonsense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	595709	166999181	24155095	2122	68736											
DDX60	55601	broad.mit.edu	37	chr4	169194428	169194428	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttattaattaaaataccctAcctgacagtttaaggcatca	4	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:169194428A>G	uc003irp.2	-	18	2866	c.2574_splice	c.e18+1	p.Q858_splice		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60								ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AAAATACCCTACCTGACAGTT	0.353													G	169194428	A	G	169194428	5	3	104	1	0	0	0	0	0	0	1	0	4378	405	14	3	2646	3	DDX60	4	169194428	Splice_Site	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2195247	169194428	21959848	2123	68737											
DDX60	55601	broad.mit.edu	37	chr4	169197322	169197322	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagctatacttaaatctttCgtggttttaccttgataaac	5	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:169197322C>T	uc003irp.2	-	15	2281	c.1989G>A	c.(1987-1989)ACG>ACA	p.T663T		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	663							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTAAATCTTTCGTGGTTTTAC	0.328													T	169197322	C	T	169197322	2	4	104	1	0	0	0	0	0	0	0	1	4378	871	31	1		1	DDX60	4	169197322	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2894	169197322	21956954	2124	68738											
DDX60L	91351	broad.mit.edu	37	chr4	169305863	169305863	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtcctctcagctcaggaAcactggatgcaaggagtctt	10	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:169305863A>G	uc003irq.3	-	30	4237	c.4016T>C	c.(4015-4017)GTT>GCT	p.V1339A		NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1339	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CAGCTCAGGAACACTGGATGC	0.498													G	169305863	A	G	169305863	3	3	104	1	0	0	0	0	1	0	0	0	4379	43	2	3	1140	3	DDX60L	4	169305863	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	108541	169305863	21848413	2125	68739											
NEK1	4750	broad.mit.edu	37	chr4	170428878	170428878	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctataccttcagtgattcGatttttttgcgcctcatgtc	7	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:170428878G>A	uc003isb.1	-	20	2307	c.1815C>T	c.(1813-1815)ATC>ATT	p.I605I	NEK1_uc003isc.1_Silent_p.I561I|NEK1_uc003isd.1_Silent_p.I633I|NEK1_uc003ise.1_Silent_p.I589I|NEK1_uc003isf.1_Silent_p.I536I	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	605					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(3)|ovary(2)|large_intestine(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCAGTGATTCGATTTTTTTGC	0.338													A	170428878	G	A	170428878	2	1	104	1	0	0	0	0	0	0	0	1	10321	1048	37	1		1	NEK1	4	170428878	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1123015	170428878	20725398	2126	68740											
MFAP3L	9848	broad.mit.edu	37	chr4	170913428	170913428	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggataccttggtgatgtTcaggaggccgctgtcgtgca	15	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:170913428T>C	uc003isp.3	-	3	509	c.331A>G	c.(331-333)AAC>GAC	p.N111D	MFAP3L_uc003isn.3_Missense_Mutation_p.N8D	NM_021647	NP_067679	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like isoform	111	Extracellular (Potential).|Ig-like C2-type.					integral to membrane|plasma membrane				ovary(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		TTGGTGATGTTCAGGAGGCCG	0.498													C	170913428	T	C	170913428	3	2	104	1	0	0	0	0	1	0	0	0	9516	1783	62	3	902	3	MFAP3L	4	170913428	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	484550	170913428	20240848	2127	68741											
GALNTL6	442117	broad.mit.edu	37	chr4	173930333	173930333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcttctttccacagatccGaaatgtggcagcaaatctct	6	11	3	1	rs146923140		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:173930333G>A	uc003isv.2	+	11	2112	c.1376G>A	c.(1375-1377)CGA>CAA	p.R459Q		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	459	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						CCACAGATCCGAAATGTGGCA	0.443													A	173930333	G	A	173930333	3	1	104	1	0	0	0	0	1	0	0	0	6225	1058	37	1	1414	1	GALNTL6	4	173930333	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3016905	173930333	17223943	2128	68742											
SAP30	8819	broad.mit.edu	37	chr4	174294593	174294593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaacttaattcagagtgttcGaaacagaagaaagagaaaag	9	4	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:174294593G>A	uc003itd.2	+	2	609	c.368G>A	c.(367-369)CGA>CAA	p.R123Q		NM_003864	NP_003855	O75446	SAP30_HUMAN	Sin3A-associated protein, 30kDa	123	Interaction with NCOR1 (By similarity).				transcription, DNA-dependent	histone deacetylase complex	DNA binding|metal ion binding|protein binding|transcription corepressor activity			ovary(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		CAGAGTGTTCGAAACAGAAGA	0.348													A	174294593	G	A	174294593	3	1	104	1	0	0	0	0	1	0	0	0	13833	1058	37	1	374	1	SAP30	4	174294593	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	364260	174294593	16859683	2129	68743											
SAP30	8819	broad.mit.edu	37	chr4	174298430	174298430	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tatttcatctactcagtgaaGaatgacaagaacaaatcaga	6	7	4	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:174298430G>T	uc003itd.2	+	4	856	c.615G>T	c.(613-615)AAG>AAT	p.K205N		NM_003864	NP_003855	O75446	SAP30_HUMAN	Sin3A-associated protein, 30kDa	205	Interaction with SIN3A (By similarity).				transcription, DNA-dependent	histone deacetylase complex	DNA binding|metal ion binding|protein binding|transcription corepressor activity			ovary(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		ACTCAGTGAAGAATGACAAGA	0.343													T	174298430	G	T	174298430	3	4	104	1	0	0	0	0	1	0	0	0	13833	933	33	5	629	5	SAP30	4	174298430	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3837	174298430	16855846	2130	68744											
WDR17	116966	broad.mit.edu	37	chr4	177067147	177067147	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccattgatgatatttcagaGacatgatagccactggctgt	9	8	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:177067147G>A	uc003iuj.2	+	13	1759	c.1603G>A	c.(1603-1605)GAC>AAC	p.D535N	WDR17_uc003iuk.2_Missense_Mutation_p.D511N|WDR17_uc003ium.3_Missense_Mutation_p.D511N|WDR17_uc003iul.1_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	535	WD 9.									ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		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;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATATTTCAGAGACATGATAGC	0.313													A	177067147	G	A	177067147	3	1	104	1	0	0	0	0	1	0	0	0	17274	956	33	4	1649	4	WDR17	4	177067147	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2768717	177067147	14087129	2131	68745											
SPATA4	132851	broad.mit.edu	37	chr4	177105979	177105979	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcatagcagagtaataAgaatgttgtccagcttgctt	10	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:177105979A>C	uc003iuo.1	-	6	979	c.870T>G	c.(868-870)TCT>TCG	p.S290S		NM_144644	NP_653245	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	290					apoptosis|spermatogenesis						0		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		CAGAGTAATAAGAATGTTGTC	0.373													C	177105979	A	C	177105979	2	2	104	1	0	0	0	0	0	0	0	1	15009	59	3	5		5	SPATA4	4	177105979	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	38832	177105979	14048297	2132	68746											
SPATA4	132851	broad.mit.edu	37	chr4	177109304	177109304	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actcttcctcttttaactttTaaattatatctgcgcccaga	3	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:177109304T>G	uc003iuo.1	-	5	880	c.771A>C	c.(769-771)TTA>TTC	p.L257F		NM_144644	NP_653245	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	257					apoptosis|spermatogenesis						0		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		TTTTAACTTTTAAATTATATC	0.338													G	177109304	T	G	177109304	3	3	104	1	0	0	0	0	1	0	0	0	15009	1751	61	5	154	5	SPATA4	4	177109304	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	3325	177109304	14044972	2133	68747											
SPATA4	132851	broad.mit.edu	37	chr4	177113869	177113869	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtcagcatgttgggattGcttagtaattctgataacct	10	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:177113869G>A	uc003iuo.1	-	4	706	c.597C>T	c.(595-597)AGC>AGT	p.S199S		NM_144644	NP_653245	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	199					apoptosis|spermatogenesis						0		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		TGTTGGGATTGCTTAGTAATT	0.373													A	177113869	G	A	177113869	2	1	104	1	0	0	0	0	0	0	0	1	15009	1310	46	2		2	SPATA4	4	177113869	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4565	177113869	14040407	2134	68748											
ASB5	140458	broad.mit.edu	37	chr4	177136836	177136836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttggttttcctatgtagcttCggatacagagtcggcaaagt	11	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:177136836C>T	uc003iuq.1	-	7	921	c.905G>A	c.(904-906)CGA>CAA	p.R302Q	ASB5_uc003iup.1_Missense_Mutation_p.R249Q	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box-containing protein	302	SOCS box.				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)		TATGTAGCTTCGGATACAGAG	0.353													T	177136836	C	T	177136836	3	4	104	1	0	0	0	0	1	0	0	0	1026	884	31	1	88	1	ASB5	4	177136836	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	22967	177136836	14017440	2135	68749											
SPCS3	60559	broad.mit.edu	37	chr4	177243323	177243323	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttatctttattcctagaaAaaatgtagaagatttcactg	5	5	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:177243323A>C	uc003iur.3	+	2	284	c.146A>C	c.(145-147)AAA>ACA	p.K49T		NM_021928	NP_068747	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3	49	Lumenal (Potential).				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			ovary(1)	1		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		ATTCCTAGAAAAAATGTAGAA	0.333													C	177243323	A	C	177243323	3	2	104	1	0	0	0	0	1	0	0	0	15024	14	1	5	152	5	SPCS3	4	177243323	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	106487	177243323	13910953	2136	68750											
VEGFC	7424	broad.mit.edu	37	chr4	177649045	177649045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaaagaaggtgtttgtcgCgactccaaactccttcccca	7	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:177649045C>T	uc003ius.1	-	3	869	c.439G>A	c.(439-441)GCG>ACG	p.A147T		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	147					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(5)	5		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GTGTTTGTCGCGACTCCAAAC	0.493													T	177649045	C	T	177649045	3	4	104	1	0	0	0	0	1	0	0	0	17149	768	27	1	843	1	VEGFC	4	177649045	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	405722	177649045	13505231	2137	68751											
VEGFC	7424	broad.mit.edu	37	chr4	177650885	177650885	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccgtaactgctcctccagatCtttgcttgcataagcctgtc	7	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:177650885C>A	uc003ius.1	-	2	593	c.163G>T	c.(163-165)GAT>TAT	p.D55Y		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	55					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(5)	5		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TCCTCCAGATCTTTGCTTGCA	0.393													A	177650885	C	A	177650885	3	1	104	1	0	0	0	0	1	0	0	0	17149	913	32	5	1123	5	VEGFC	4	177650885	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1840	177650885	13503391	2138	68752											
AGA	175	broad.mit.edu	37	chr4	178354419	178354419	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agccccaaagaattctggaaAatgcttctggattcttgaaa	8	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:178354419A>C	uc003iuu.1	-	8	951	c.889T>G	c.(889-891)TTT>GTT	p.F297V	AGA_uc010irt.1_Intron	NM_000027	NP_000018	P20933	ASPG_HUMAN	aspartylglucosaminidase precursor	297					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity				0		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		AATTCTGGAAAATGCTTCTGG	0.383													C	178354419	A	C	178354419	3	2	104	1	0	0	0	0	1	0	0	0	365	14	1	5	159	5	AGA	4	178354419	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	703534	178354419	12799857	2139	68753											
ODZ3	55714	broad.mit.edu	37	chr4	183714517	183714517	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgatctaccgttatgacgGcctgggaaggcgtgtttcta	13	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:183714517G>T	uc003ivd.1	+	25	6729	c.6692G>T	c.(6691-6693)GGC>GTC	p.G2231V		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2231	YD 22.|Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CGTTATGACGGCCTGGGAAGG	0.463													T	183714517	G	T	183714517	3	4	104	1	0	0	0	0	1	0	0	0	10836	1203	42	5	6790	5	ODZ3	4	183714517	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5360098	183714517	7439759	2140	68754											
WWC2	80014	broad.mit.edu	37	chr4	184205450	184205450	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccccaaagagcgcagcagCctgagctctagacagcatcc	10	16	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:184205450C>T	uc010irx.2	+	19	3137	c.2955C>T	c.(2953-2955)AGC>AGT	p.S985S	WWC2_uc003ivk.3_Silent_p.S780S|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Silent_p.S667S|WWC2_uc003ivn.3_Silent_p.S500S|WWC2_uc010irz.2_Silent_p.S326S|WWC2_uc003ivo.3_Silent_p.S113S	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	985										ovary(2)|lung(1)	3		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		AGCGCAGCAGCCTGAGCTCTA	0.488													T	184205450	C	T	184205450	2	4	104	1	0	0	0	0	0	0	0	1	17409	738	26	2		2	WWC2	4	184205450	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	490933	184205450	6948826	2141	68755											
CLDN22	53842	broad.mit.edu	37	chr4	184240709	184240709	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agacgcttgtcctttctggcTtagtgtttcaggttggtgtt	12	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:184240709T>G	uc010isa.1	-	1	1219	c.663A>C	c.(661-663)TAA>TAC	p.*221Y	WWC2_uc010irx.2_3'UTR|WWC2_uc003ivk.3_3'UTR|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_3'UTR|WWC2_uc003ivn.3_3'UTR|WWC2_uc010irz.2_3'UTR|WWC2_uc003ivo.3_3'UTR	NM_001111319	NP_001104789	Q8N7P3	CLD22_HUMAN	claudin 22	221					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CCTTTCTGGCTTAGTGTTTCA	0.507													G	184240709	T	G	184240709	4	3	104	1	0	0	0	0	0	0	0	0	3483	1616	56	5	3	5	CLDN22	4	184240709	Nonstop_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	35259	184240709	6913567	2142	68756											
STOX2	56977	broad.mit.edu	37	chr4	184931772	184931772	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcaactcttgtccaacaaAaacagccacagatgactatt	4	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:184931772A>G	uc003ivz.1	+	3	3216	c.1781A>G	c.(1780-1782)AAA>AGA	p.K594R	STOX2_uc003iwa.1_Missense_Mutation_p.K283R	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	storkhead box 2	594					embryo development|maternal placenta development						0		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TGTCCAACAAAAACAGCCACA	0.522													G	184931772	A	G	184931772	3	3	104	1	0	0	0	0	1	0	0	0	15319	14	1	3	1791	3	STOX2	4	184931772	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	691063	184931772	6222504	2143	68757											
IRF2	3660	broad.mit.edu	37	chr4	185340688	185340688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcccacccatgtctagccGcatgcatccaggggatctga	9	15	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:185340688G>A	uc003iwf.3	-	3	322	c.122C>T	c.(121-123)GCG>GTG	p.A41V		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	41	IRF tryptophan pentad repeat.				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		ATGTCTAGCCGCATGCATCCA	0.423													A	185340688	G	A	185340688	3	1	104	1	0	0	0	0	1	0	0	0	7828	1087	38	1	955	1	IRF2	4	185340688	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	408916	185340688	5813588	2144	68758											
HELT	391723	broad.mit.edu	37	chr4	185940639	185940639	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagtgcccatggccttggcGaagcaggtaacgttggcgac	14	11	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:185940639G>A	uc011ckq.1	+	2	258	c.258G>A	c.(256-258)GCG>GCA	p.A86A	HELT_uc011cko.1_Silent_p.A42A|HELT_uc003ixa.3_Silent_p.A42A|HELT_uc011ckp.1_5'UTR	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	HES/HEY-like transcription factor	86	Helix-loop-helix motif.						DNA binding				0		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGGCCTTGGCGAAGCAGGTAA	0.632													A	185940639	G	A	185940639	2	1	104	1	0	0	0	0	0	0	0	1	7048	1045	37	1		1	HELT	4	185940639	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	599951	185940639	5213637	2145	68759											
SNX25	83891	broad.mit.edu	37	chr4	186244746	186244746	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtggagagcaaagaaatatCtgtggaaaaatcactttaca	9	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:186244746C>A	uc003ixh.2	+	9	1238	c.1049C>A	c.(1048-1050)TCT>TAT	p.S350Y	SNX25_uc010ish.2_Missense_Mutation_p.S121Y|SNX25_uc003ixi.2_Translation_Start_Site	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	350	RGS.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AAAGAAATATCTGTGGAAAAA	0.318													A	186244746	C	A	186244746	3	1	104	1	0	0	0	0	1	0	0	0	14896	913	32	5	1079	5	SNX25	4	186244746	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	304107	186244746	4909530	2146	68760											
SNX25	83891	broad.mit.edu	37	chr4	186272701	186272701	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgacgtgcaggggaaaaaaAattctttttcattatcctca	7	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:186272701A>C	uc003ixh.2	+	14	2101	c.1912A>C	c.(1912-1914)AAT>CAT	p.N638H	SNX25_uc010ish.2_Intron|SNX25_uc003ixi.2_Missense_Mutation_p.N142H	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	638					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GGGGAAAAAAAATTCTTTTTC	0.438													C	186272701	A	C	186272701	3	2	104	1	0	0	0	0	1	0	0	0	14896	14	1	5	1962	5	SNX25	4	186272701	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	27955	186272701	4881575	2147	68761											
SNX25	83891	broad.mit.edu	37	chr4	186278858	186278858	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaagaacattaattgcccTcgttcaggtcacttttggaa	9	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:186278858T>G	uc003ixh.2	+	16	2315	c.2126T>G	c.(2125-2127)CTC>CGC	p.L709R	SNX25_uc010ish.2_Missense_Mutation_p.L425R|SNX25_uc003ixi.2_Missense_Mutation_p.L213R	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	709					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TTAATTGCCCTCGTTCAGGTC	0.378													G	186278858	T	G	186278858	3	3	104	1	0	0	0	0	1	0	0	0	14896	1551	54	5	2184	5	SNX25	4	186278858	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	6157	186278858	4875418	2148	68762											
LRP2BP	55805	broad.mit.edu	37	chr4	186288369	186288369	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aataagtaaggagtgaagttCatctgccaatgcgggattca	11	6	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:186288369C>A	uc003ixj.1	-	8	1821	c.1009G>T	c.(1009-1011)GAA>TAA	p.E337*	SNX25_uc003ixi.2_Intron|LRP2BP_uc003ixk.1_Nonsense_Mutation_p.E311*|LRP2BP_uc011ckr.1_Nonsense_Mutation_p.E337*	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	337						cytoplasm	protein binding				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		GAGTGAAGTTCATCTGCCAAT	0.313													A	186288369	C	A	186288369	4	1	104	1	0	0	0	0	0	1	0	0	8957	835	29	5	38	5	LRP2BP	4	186288369	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	9511	186288369	4865907	2149	68763											
CCDC110	256309	broad.mit.edu	37	chr4	186380271	186380271	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttttacttaacttagactgAatagtactcttttcttcaac	4	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:186380271A>C	uc003ixu.3	-	6	1546	c.1470T>G	c.(1468-1470)ATT>ATG	p.I490M	CCDC110_uc003ixv.3_Missense_Mutation_p.I453M|CCDC110_uc011ckt.1_Missense_Mutation_p.I490M	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	490	Potential.					nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		ACTTAGACTGAATAGTACTCT	0.279													C	186380271	A	C	186380271	3	2	104	1	0	0	0	0	1	0	0	0	2747	242	9	5	1039	5	CCDC110	4	186380271	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	91902	186380271	4774005	2150	68764											
CCDC110	256309	broad.mit.edu	37	chr4	186381000	186381000	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaagctcttctttcatTtgtttgatagaatggcaaat	7	5	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:186381000T>G	uc003ixu.3	-	6	817	c.741A>C	c.(739-741)CAA>CAC	p.Q247H	CCDC110_uc003ixv.3_Missense_Mutation_p.Q210H|CCDC110_uc011ckt.1_Missense_Mutation_p.Q247H	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	247						nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CTTCTTTCATTTGTTTGATAG	0.348													G	186381000	T	G	186381000	3	3	104	1	0	0	0	0	1	0	0	0	2747	1838	64	5	1768	5	CCDC110	4	186381000	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	729	186381000	4773276	2151	68765											
SORBS2	8470	broad.mit.edu	37	chr4	186536109	186536109	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgctttctcaggaggtgtgAgtttctatgaaggaaatagt	13	4	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:186536109A>C	uc003iyl.2	-	17	3617	c.2759T>G	c.(2758-2760)CTC>CGC	p.L920R	SORBS2_uc003iyh.2_Missense_Mutation_p.L644R|SORBS2_uc011ckw.1_Missense_Mutation_p.L481R|SORBS2_uc003iyi.2_Missense_Mutation_p.L551R|SORBS2_uc011ckx.1_Missense_Mutation_p.L486R|SORBS2_uc003iyk.2_Missense_Mutation_p.L464R|SORBS2_uc003iym.2_Missense_Mutation_p.L1020R|SORBS2_uc003iyn.1_Missense_Mutation_p.L511R|SORBS2_uc011cku.1_Missense_Mutation_p.L312R|SORBS2_uc011ckv.1_Missense_Mutation_p.L824R|SORBS2_uc003iyd.2_Missense_Mutation_p.L619R|SORBS2_uc003iye.2_Missense_Mutation_p.L493R|SORBS2_uc003iya.2_Missense_Mutation_p.L440R|SORBS2_uc003iyb.2_Missense_Mutation_p.L393R|SORBS2_uc003iyc.2_Missense_Mutation_p.L373R|SORBS2_uc003iyg.2_Missense_Mutation_p.L1034R|SORBS2_uc003iyf.2_Missense_Mutation_p.L456R|SORBS2_uc003iyo.1_Missense_Mutation_p.L369R	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	920	SH3 1.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGGAGGTGTGAGTTTCTATGA	0.493													C	186536109	A	C	186536109	3	2	104	1	0	0	0	0	1	0	0	0	14928	304	11	5	563	5	SORBS2	4	186536109	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	155109	186536109	4618167	2152	68766											
TLR3	7098	broad.mit.edu	37	chr4	187003649	187003649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcaatacaactttcttggGactaaagtggacaaatctca	7	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:187003649G>A	uc003iyq.2	+	4	910	c.809G>A	c.(808-810)GGA>GAA	p.G270E	TLR3_uc011ckz.1_5'UTR|TLR3_uc003iyr.2_5'UTR	NM_003265	NP_003256	O15455	TLR3_HUMAN	toll-like receptor 3 precursor	270	LRR 9.|Lumenal (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			ovary(2)|prostate(1)|lung(1)|breast(1)	5		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ACTTTCTTGGGACTAAAGTGG	0.413													A	187003649	G	A	187003649	3	1	104	1	0	0	0	0	1	0	0	0	15949	1174	41	4	819	4	TLR3	4	187003649	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	467540	187003649	4150627	2153	68767											
FAM149A	25854	broad.mit.edu	37	chr4	187088351	187088351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagcagtcggatacgcctcGaaaaagttcattgacacaaa	8	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:187088351G>A	uc003iyt.3	+	13	1889	c.1310G>A	c.(1309-1311)CGA>CAA	p.R437Q	FAM149A_uc011cla.1_Missense_Mutation_p.R437Q|FAM149A_uc003iyu.3_Missense_Mutation_p.R437Q|FAM149A_uc010isl.2_Missense_Mutation_p.R437Q|FAM149A_uc011clb.1_Missense_Mutation_p.R436Q	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	hypothetical protein LOC25854	728										breast(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GATACGCCTCGAAAAAGTTCA	0.353													A	187088351	G	A	187088351	3	1	104	1	0	0	0	0	1	0	0	0	5455	1058	37	1	1348	1	FAM149A	4	187088351	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	84702	187088351	4065925	2154	68768											
MTNR1A	4543	broad.mit.edu	37	chr4	187455635	187455635	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccacccgttgttaaatatCgacatcagcaccaacgggta	7	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:187455635C>T	uc003izd.1	-	2	279	c.261G>A	c.(259-261)TCG>TCA	p.S87S		NM_005958	NP_005949	P48039	MTR1A_HUMAN	melatonin receptor 1A	87	Extracellular (Potential).				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TGTTAAATATCGACATCAGCA	0.507													T	187455635	C	T	187455635	2	4	104	1	0	0	0	0	0	0	0	1	9951	871	31	1		1	MTNR1A	4	187455635	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	367284	187455635	3698641	2155	68769											
FAT1	2195	broad.mit.edu	37	chr4	187517847	187517847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggttaaaagtgctgaattCgggatgctctgggatagcag	16	5	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:187517847C>T	uc003izf.2	-	25	13035	c.12847G>A	c.(12847-12849)GAA>AAA	p.E4283K	FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_Missense_Mutation_p.E174K	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4283	Cytoplasmic (Potential).				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GTGCTGAATTCGGGATGCTCT	0.557										HNSCC(5;0.00058)			T	187517847	C	T	187517847	3	4	104	1	0	0	0	0	1	0	0	0	5689	893	31	1	931	1	FAT1	4	187517847	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	62212	187517847	3636429	2156	68770											
FAT1	2195	broad.mit.edu	37	chr4	187524488	187524488	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagtttctggaatacattcAgtatcctaactccaatgatt	6	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:187524488A>C	uc003izf.2	-	19	11380	c.11192T>G	c.(11191-11193)CTG>CGG	p.L3731R		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3731	Extracellular (Potential).				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GAATACATTCAGTATCCTAAC	0.453										HNSCC(5;0.00058)			C	187524488	A	C	187524488	3	2	104	1	0	0	0	0	1	0	0	0	5689	188	7	5	2610	5	FAT1	4	187524488	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	6641	187524488	3629788	2157	68771											
FAT1	2195	broad.mit.edu	37	chr4	187524871	187524871	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattgccctatgtctagcttTttgtgtgctatcagcttgcc	8	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:187524871T>G	uc003izf.2	-	19	10997	c.10809A>C	c.(10807-10809)AAA>AAC	p.K3603N		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3603	Extracellular (Potential).|Cadherin 33.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TGTCTAGCTTTTTGTGTGCTA	0.498										HNSCC(5;0.00058)			G	187524871	T	G	187524871	3	3	104	1	0	0	0	0	1	0	0	0	5689	1838	64	5	2993	5	FAT1	4	187524871	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	383	187524871	3629405	2158	68772											
FAT1	2195	broad.mit.edu	37	chr4	187532563	187532563	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttagaatctatgctgaatTtcccatgttcatttccactt	4	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:187532563T>G	uc003izf.2	-	14	10018	c.9830A>C	c.(9829-9831)AAA>ACA	p.K3277T		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3277	Extracellular (Potential).|Cadherin 30.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TATGCTGAATTTCCCATGTTC	0.388										HNSCC(5;0.00058)			G	187532563	T	G	187532563	3	3	104	1	0	0	0	0	1	0	0	0	5689	1841	64	5	3992	5	FAT1	4	187532563	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	7692	187532563	3621713	2159	68773											
FAT1	2195	broad.mit.edu	37	chr4	187541629	187541629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctcacgatcgaagggCgtgccagtggttgacagaac	14	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:187541629C>T	uc003izf.2	-	10	6299	c.6111G>A	c.(6109-6111)ACG>ACA	p.T2037T		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2037	Extracellular (Potential).|Cadherin 18.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GATCGAAGGGCGTGCCAGTGG	0.488										HNSCC(5;0.00058)			T	187541629	C	T	187541629	2	4	104	1	0	0	0	0	0	0	0	1	5689	755	27	1		1	FAT1	4	187541629	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	9066	187541629	3612647	2160	68774											
FAT1	2195	broad.mit.edu	37	chr4	187542860	187542860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catactccgcttggttacttCgatctaattctttggcagtt	7	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:187542860C>T	uc003izf.2	-	10	5068	c.4880G>A	c.(4879-4881)CGA>CAA	p.R1627Q		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1627	Extracellular (Potential).|Cadherin 14.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TTGGTTACTTCGATCTAATTC	0.368										HNSCC(5;0.00058)			T	187542860	C	T	187542860	3	4	104	1	0	0	0	0	1	0	0	0	5689	884	31	1	8958	1	FAT1	4	187542860	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1231	187542860	3611416	2161	68775											
FAT1	2195	broad.mit.edu	37	chr4	187549793	187549793	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagtttgtttttctcatccTgatccacagcactgatttgc	6	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:187549793T>G	uc003izf.2	-	8	4636	c.4448A>C	c.(4447-4449)CAG>CCG	p.Q1483P		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1483	Extracellular (Potential).|Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TTTCTCATCCTGATCCACAGC	0.408										HNSCC(5;0.00058)			G	187549793	T	G	187549793	3	3	104	1	0	0	0	0	1	0	0	0	5689	1580	55	5	9398	5	FAT1	4	187549793	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	6933	187549793	3604483	2162	68776											
TRIML2	205860	broad.mit.edu	37	chr4	189012796	189012796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagacccagagagtccactCggtccccatcaccgaccccg	9	18	1	2	rs150210586		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr4:189012796C>T	uc003izl.2	-	7	931	c.895G>A	c.(895-897)GAG>AAG	p.E299K	TRIML2_uc003izj.1_Missense_Mutation_p.E127K|TRIML2_uc003izk.1_Missense_Mutation_p.E107K|TRIML2_uc011cle.1_Missense_Mutation_p.E374K	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	299	B30.2/SPRY.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGAGTCCACTCGGTCCCCATC	0.577													T	189012796	C	T	189012796	3	4	104	1	0	0	0	0	1	0	0	0	16548	893	31	1	272	1	TRIML2	4	189012796	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1463003	189012796	2141480	2163	68777											
PLEKHG4B	153478	broad.mit.edu	37	chr5	156256	156256	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaagacccactgcttgtgtCtctcaggctggaggggggca	16	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:156256C>T	uc003jak.2	+	8	1261	c.1211C>T	c.(1210-1212)TCT>TTT	p.S404F		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	404					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CTGCTTGTGTCTCTCAGGCTG	0.592													T	156256	C	T	156256	3	4	104	1	0	0	0	0	1	0	0	0	12072	913	32	4	1241	4	PLEKHG4B	5	156256	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08		156256	180759004	2164	68778											
TERT	7015	broad.mit.edu	37	chr5	1272354	1272354	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctcctgcaggtgagccacGaactgtcgcatgtacggctg	13	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:1272354G>A	uc003jcb.1	-	7	2386	c.2328C>T	c.(2326-2328)TTC>TTT	p.F776F	TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Silent_p.F764F|TERT_uc003jcc.1_Silent_p.F776F|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	776	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGTGAGCCACGAACTGTCGCA	0.657									TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic				A	1272354	G	A	1272354	2	1	104	1	0	0	0	0	0	0	0	1	15761	1049	37	1		1	TERT	5	1272354	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1116098	1272354	179642906	2165	68779											
CLPTM1L	81037	broad.mit.edu	37	chr5	1334416	1334416	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgactcacatggaacgctgcGacaaagaaggtcagcgccag	12	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:1334416G>A	uc003jch.2	-	7	925	c.879C>T	c.(877-879)GTC>GTT	p.V293V	CLPTM1L_uc003jcg.2_Silent_p.V160V	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	CLPTM1-like	293	Helical; (Potential).				apoptosis	integral to membrane				breast(1)|central_nervous_system(1)	2	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GGAACGCTGCGACAAAGAAGG	0.547													A	1334416	G	A	1334416	2	1	104	1	0	0	0	0	0	0	0	1	3555	1045	37	1		1	CLPTM1L	5	1334416	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	62062	1334416	179580844	2166	68780											
LPCAT1	79888	broad.mit.edu	37	chr5	1474721	1474721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctaaaaggcaagtgtcagCggggagacggagctgtcctt	14	8	2	1	rs138573338		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:1474721C>T	uc003jcm.2	-	10	1096	c.979G>A	c.(979-981)GCT>ACT	p.A327T		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	327	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		CAAGTGTCAGCGGGGAGACGG	0.607													T	1474721	C	T	1474721	3	4	104	1	0	0	0	0	1	0	0	0	8910	768	27	1	645	1	LPCAT1	5	1474721	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	140305	1474721	179440539	2167	68781											
ADAMTS16	170690	broad.mit.edu	37	chr5	5239839	5239839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggagcccggagtatccGcatctatgaaatgaacgtct	10	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:5239839G>A	uc003jdl.2	+	16	2462	c.2324G>A	c.(2323-2325)CGC>CAC	p.R775H	ADAMTS16_uc003jdk.1_Missense_Mutation_p.R775H	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	775	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CGGAGTATCCGCATCTATGAA	0.502													A	5239839	G	A	5239839	3	1	104	1	0	0	0	0	1	0	0	0	261	1087	38	1	2386	1	ADAMTS16	5	5239839	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3765118	5239839	175675421	2168	68782											
KIAA0947	23379	broad.mit.edu	37	chr5	5460963	5460963	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaccattcataaactcactCgaggtctatgcattgagaga	8	9	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:5460963C>T	uc003jdm.3	+	13	1738	c.1516C>T	c.(1516-1518)CGA>TGA	p.R506*		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	506										ovary(1)|central_nervous_system(1)	2						TAAACTCACTCGAGGTCTATG	0.448													T	5460963	C	T	5460963	4	4	104	1	0	0	0	0	0	1	0	0	8202	876	31	1	1566	1	KIAA0947	5	5460963	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	221124	5460963	175454297	2169	68783											
KIAA0947	23379	broad.mit.edu	37	chr5	5461150	5461150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagtttactaagtggacacGaattaatgaaatcacttctg	8	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:5461150G>A	uc003jdm.3	+	13	1925	c.1703G>A	c.(1702-1704)CGA>CAA	p.R568Q		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	568										ovary(1)|central_nervous_system(1)	2						AAGTGGACACGAATTAATGAA	0.388													A	5461150	G	A	5461150	3	1	104	1	0	0	0	0	1	0	0	0	8202	1058	37	1	1753	1	KIAA0947	5	5461150	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	187	5461150	175454110	2170	68784											
KIAA0947	23379	broad.mit.edu	37	chr5	5461831	5461831	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacttcatggcaccatagtgAtttattaaggaaaggtggcg	11	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:5461831A>G	uc003jdm.3	+	13	2606	c.2384A>G	c.(2383-2385)GAT>GGT	p.D795G		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	795										ovary(1)|central_nervous_system(1)	2						CACCATAGTGATTTATTAAGG	0.388													G	5461831	A	G	5461831	3	3	104	1	0	0	0	0	1	0	0	0	8202	333	12	3	2434	3	KIAA0947	5	5461831	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	681	5461831	175453429	2171	68785											
NSUN2	54888	broad.mit.edu	37	chr5	6623341	6623341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctaccttatgatgaggccGcacgttgaggagcagtggtg	15	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:6623341G>A	uc003jdu.2	-	5	588	c.523C>T	c.(523-525)CGG>TGG	p.R175W	NSUN2_uc003jdt.2_5'Flank|NSUN2_uc011cmk.1_Missense_Mutation_p.R140W|NSUN2_uc003jdv.2_5'UTR	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	175						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1						TGATGAGGCCGCACGTTGAGG	0.408													A	6623341	G	A	6623341	3	1	104	1	0	0	0	0	1	0	0	0	10678	1086	38	1	1840	1	NSUN2	5	6623341	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1161510	6623341	174291919	2172	68786											
ADCY2	108	broad.mit.edu	37	chr5	7789775	7789775	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgaatattactgtaggttAgacttcttatggaagaacaa	8	4	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:7789775A>G	uc003jdz.1	+	20	2557	c.2490A>G	c.(2488-2490)TTA>TTG	p.L830L	ADCY2_uc011cmo.1_Silent_p.L650L|ADCY2_uc010itm.1_Silent_p.L26L	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	830	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						ACTGTAGGTTAGACTTCTTAT	0.448													G	7789775	A	G	7789775	2	3	104	1	0	0	0	0	0	0	0	1	294	417	15	3		3	ADCY2	5	7789775	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1166434	7789775	173125485	2173	68787											
SEMA5A	9037	broad.mit.edu	37	chr5	9227037	9227037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccacaggtgaataaccggtCgccacccaccagaagcaccc	8	18	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:9227037C>T	uc003jek.2	-	7	1088	c.376G>A	c.(376-378)GAC>AAC	p.D126N		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	126	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						AATAACCGGTCGCCACCCACC	0.393													T	9227037	C	T	9227037	3	4	104	1	0	0	0	0	1	0	0	0	14037	884	31	1	2916	1	SEMA5A	5	9227037	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1437262	9227037	171688223	2174	68788											
CTNND2	1501	broad.mit.edu	37	chr5	11082831	11082831	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagctccttatttctgacgTccaaggccatgttccgcagc	9	13	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:11082831T>C	uc003jfa.1	-	16	2910	c.2765A>G	c.(2764-2766)GAC>GGC	p.D922G	CTNND2_uc010itt.2_Missense_Mutation_p.D831G|CTNND2_uc011cmy.1_Missense_Mutation_p.D585G|CTNND2_uc011cmz.1_Missense_Mutation_p.D489G|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.D514G	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	922					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						ATTTCTGACGTCCAAGGCCAT	0.522													C	11082831	T	C	11082831	3	2	104	1	0	0	0	0	1	0	0	0	4020	1667	58	3	940	3	CTNND2	5	11082831	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1855794	11082831	169832429	2175	68789											
DNAH5	1767	broad.mit.edu	37	chr5	13708403	13708403	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctgcctgaggaaaatgttCataggctggaatggccccat	11	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:13708403C>A	uc003jfd.2	-	76	13209	c.13167G>T	c.(13165-13167)ATG>ATT	p.M4389I	DNAH5_uc003jfc.2_Missense_Mutation_p.M557I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4389					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)					GGAAAATGTTCATAGGCTGGA	0.458									Kartagener_syndrome				A	13708403	C	A	13708403	3	1	104	1	0	0	0	0	1	0	0	0	4604	826	29	5	723	5	DNAH5	5	13708403	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2625572	13708403	167206857	2176	68790											
DNAH5	1767	broad.mit.edu	37	chr5	13753355	13753355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaattacctggagttcatttCggctttctttatttttaatc	5	7	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:13753355C>T	uc003jfd.2	-	63	10901	c.10859G>A	c.(10858-10860)CGA>CAA	p.R3620Q	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3620	AAA 5 (By similarity).				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)					GAGTTCATTTCGGCTTTCTTT	0.333									Kartagener_syndrome				T	13753355	C	T	13753355	3	4	104	1	0	0	0	0	1	0	0	0	4604	884	31	1	3083	1	DNAH5	5	13753355	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	44952	13753355	167161905	2177	68791											
DNAH5	1767	broad.mit.edu	37	chr5	13762932	13762932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acatacgcgtttagcagtttCgatgttatagtcaggcattt	9	7	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:13762932C>T	uc003jfd.2	-	60	10222	c.10180G>A	c.(10180-10182)GAA>AAA	p.E3394K	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3394	Stalk (By similarity).				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)					TTAGCAGTTTCGATGTTATAG	0.373									Kartagener_syndrome				T	13762932	C	T	13762932	3	4	104	1	0	0	0	0	1	0	0	0	4604	893	31	1	3774	1	DNAH5	5	13762932	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	9577	13762932	167152328	2178	68792											
DNAH5	1767	broad.mit.edu	37	chr5	13769652	13769652	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acttgtagctccttttctttCgcttccagttctttactcaa	4	12	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:13769652C>T	uc003jfd.2	-	57	9720	c.9678G>A	c.(9676-9678)GCG>GCA	p.A3226A	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3226	Stalk (By similarity).|Potential.				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)					CCTTTTCTTTCGCTTCCAGTT	0.433									Kartagener_syndrome				T	13769652	C	T	13769652	2	4	104	1	0	0	0	0	0	0	0	1	4604	871	31	1		1	DNAH5	5	13769652	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	6720	13769652	167145608	2179	68793											
DNAH5	1767	broad.mit.edu	37	chr5	13769697	13769697	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaacagactctgaagcttcTttgagcttttccaatccagt	7	11	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:13769697T>G	uc003jfd.2	-	57	9675	c.9633A>C	c.(9631-9633)AAA>AAC	p.K3211N	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3211	Stalk (By similarity).|Potential.				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)					CTGAAGCTTCTTTGAGCTTTT	0.433									Kartagener_syndrome				G	13769697	T	G	13769697	3	3	104	1	0	0	0	0	1	0	0	0	4604	1606	56	5	4333	5	DNAH5	5	13769697	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	45	13769697	167145563	2180	68794											
DNAH5	1767	broad.mit.edu	37	chr5	13811916	13811916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgcttcttgaggtgagCgtttcttaagaaaaccctgt	9	8	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:13811916C>T	uc003jfd.2	-	44	7289	c.7247G>A	c.(7246-7248)CGC>CAC	p.R2416H		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2416	AAA 2 (By similarity).				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)					TTGAGGTGAGCGTTTCTTAAG	0.393									Kartagener_syndrome				T	13811916	C	T	13811916	3	4	104	1	0	0	0	0	1	0	0	0	4604	768	27	1	6771	1	DNAH5	5	13811916	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	42219	13811916	167103344	2181	68795											
DNAH5	1767	broad.mit.edu	37	chr5	13850896	13850896	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgatcttcacccaagatTtatctatgttagaaaaccgc	5	10	4	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:13850896T>G	uc003jfd.2	-	31	5021	c.4979A>C	c.(4978-4980)AAA>ACA	p.K1660T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1660	Stem (By similarity).				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)					CACCCAAGATTTATCTATGTT	0.463									Kartagener_syndrome				G	13850896	T	G	13850896	3	3	104	1	0	0	0	0	1	0	0	0	4604	1841	64	5	9091	5	DNAH5	5	13850896	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	38980	13850896	167064364	2182	68796											
DNAH5	1767	broad.mit.edu	37	chr5	13865867	13865867	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctatttacagtttctatgAcactgttgtacagagtatat	7	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:13865867A>G	uc003jfd.2	-	27	4307	c.4265T>C	c.(4264-4266)GTC>GCC	p.V1422A		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1422	Stem (By similarity).				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)					AGTTTCTATGACACTGTTGTA	0.333									Kartagener_syndrome				G	13865867	A	G	13865867	3	3	104	1	0	0	0	0	1	0	0	0	4604	275	10	3	9821	3	DNAH5	5	13865867	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	14971	13865867	167049393	2183	68797											
DNAH5	1767	broad.mit.edu	37	chr5	13914039	13914039	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gattttgtttaagcttttgtTttgtcttgtgaaagcagagc	10	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:13914039T>G	uc003jfd.2	-	11	1391	c.1349A>C	c.(1348-1350)AAA>ACA	p.K450T	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	450	Stem (By similarity).				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)					AAGCTTTTGTTTTGTCTTGTG	0.318									Kartagener_syndrome				G	13914039	T	G	13914039	3	3	104	1	0	0	0	0	1	0	0	0	4604	1841	64	5	12801	5	DNAH5	5	13914039	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	48172	13914039	167001221	2184	68798											
DNAH5	1767	broad.mit.edu	37	chr5	13923469	13923469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taccccagtaagagccacatCgtttccctcggtcacgaaca	7	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:13923469C>T	uc003jfd.2	-	4	400	c.358G>A	c.(358-360)GAT>AAT	p.D120N	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	120	Stem (By similarity).				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)					AGAGCCACATCGTTTCCCTCG	0.458									Kartagener_syndrome				T	13923469	C	T	13923469	3	4	104	1	0	0	0	0	1	0	0	0	4604	884	31	1	13820	1	DNAH5	5	13923469	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	9430	13923469	166991791	2185	68799											
TRIO	7204	broad.mit.edu	37	chr5	14462881	14462881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagaggccggaacgagggCctgagcagcggtactctctc	15	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:14462881C>T	uc003jff.2	+	36	5520	c.5514C>T	c.(5512-5514)GGC>GGT	p.G1838G	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Silent_p.G1487G|TRIO_uc003jfi.1_Silent_p.G141G	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1838					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GGAACGAGGGCCTGAGCAGCG	0.592													T	14462881	C	T	14462881	2	4	104	1	0	0	0	0	0	0	0	1	16549	726	26	2		2	TRIO	5	14462881	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	539412	14462881	166452379	2186	68800											
FBXL7	23194	broad.mit.edu	37	chr5	15928442	15928442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtctcatgctggaaaccGtaactgtcagtggctgcagg	13	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:15928442G>A	uc003jfn.1	+	3	1052	c.571G>A	c.(571-573)GTA>ATA	p.V191I		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	191	LRR 1.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						GCTGGAAACCGTAACTGTCAG	0.627													A	15928442	G	A	15928442	3	1	104	1	0	0	0	0	1	0	0	0	5724	1145	40	1	581	1	FBXL7	5	15928442	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1465561	15928442	164986818	2187	68801											
ZNF622	90441	broad.mit.edu	37	chr5	16465454	16465454	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagttcttttcattcatcatCtccactttccgattcactgc	3	13	6	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:16465454C>A	uc003jfq.2	-	1	441	c.321G>T	c.(319-321)GAG>GAT	p.E107D		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	zinc finger protein 622	107						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						CATTCATCATCTCCACTTTCC	0.552													A	16465454	C	A	16465454	3	1	104	1	0	0	0	0	1	0	0	0	18043	912	32	5	1136	5	ZNF622	5	16465454	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	537012	16465454	164449806	2188	68802											
MYO10	4651	broad.mit.edu	37	chr5	16671611	16671611	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagtaaagtttgaagtagaAtttccatggcaggtccccaa	10	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:16671611A>C	uc003jft.3	-	38	5818	c.5350T>G	c.(5350-5352)TTC>GTC	p.F1784V	MYO10_uc011cnb.1_Missense_Mutation_p.F413V|MYO10_uc011cnc.1_Missense_Mutation_p.F663V|MYO10_uc011cnd.1_Missense_Mutation_p.F1141V|MYO10_uc011cne.1_Missense_Mutation_p.F1141V|MYO10_uc010itx.2_Missense_Mutation_p.F1406V	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1784	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						TTGAAGTAGAATTTCCATGGC	0.473													C	16671611	A	C	16671611	3	2	104	1	0	0	0	0	1	0	0	0	10062	101	4	5	842	5	MYO10	5	16671611	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	206157	16671611	164243649	2189	68803											
MYO10	4651	broad.mit.edu	37	chr5	16794857	16794857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcgcccaggtggcgccggCtgtactgctccatggtggca	15	14	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:16794857C>T	uc003jft.3	-	4	833	c.365G>A	c.(364-366)AGC>AAC	p.S122N	MYO10_uc003jfu.2_Missense_Mutation_p.S89N	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	122	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						GTGGCGCCGGCTGTACTGCTC	0.647													T	16794857	C	T	16794857	3	4	104	1	0	0	0	0	1	0	0	0	10062	797	28	2	5963	2	MYO10	5	16794857	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	123246	16794857	164120403	2190	68804											
CDH18	1016	broad.mit.edu	37	chr5	19747052	19747052	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaaaatgatttttcttaccCatatctgacatttcaggcac	4	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:19747052C>A	uc003jgc.2	-	3	899	c.522G>T	c.(520-522)ATG>ATT	p.M174I	CDH18_uc003jgd.2_Missense_Mutation_p.M174I|CDH18_uc011cnm.1_Missense_Mutation_p.M174I	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	174	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTTTCTTACCCATATCTGACA	0.308													A	19747052	C	A	19747052	3	1	104	1	0	0	0	0	1	0	0	0	3103	608	21	5	1890	5	CDH18	5	19747052	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2952195	19747052	161168208	2191	68805											
CDH12	1010	broad.mit.edu	37	chr5	21752079	21752079	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attttcctgtagcctttgatGaatgaaatcccttatgtctg	7	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:21752079G>T	uc010iuc.2	-	12	2610	c.2152C>A	c.(2152-2154)CAT>AAT	p.H718N	CDH12_uc011cno.1_Missense_Mutation_p.H678N|CDH12_uc003jgk.2_Missense_Mutation_p.H718N|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	718	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						AGCCTTTGATGAATGAAATCC	0.478										HNSCC(59;0.17)			T	21752079	G	T	21752079	3	4	104	1	0	0	0	0	1	0	0	0	3098	1290	45	5	236	5	CDH12	5	21752079	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2005027	21752079	159163181	2192	68806											
PRDM9	56979	broad.mit.edu	37	chr5	23526399	23526399	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggccttttcaagtcagaAatttctcagtcaacatgtag	7	9	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:23526399A>C	uc003jgo.2	+	11	1384	c.1202A>C	c.(1201-1203)AAA>ACA	p.K401T		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	401	C2H2-type 1.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						TCAAGTCAGAAATTTCTCAGT	0.473										HNSCC(3;0.000094)			C	23526399	A	C	23526399	3	2	104	1	0	0	0	0	1	0	0	0	12463	14	1	5	1240	5	PRDM9	5	23526399	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1774320	23526399	157388861	2193	68807											
CDH10	1008	broad.mit.edu	37	chr5	24487912	24487912	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actcagagattcagcaatggAatcatttccttcataggcat	7	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:24487912A>C	uc003jgr.1	-	12	2559	c.2227T>G	c.(2227-2229)TCC>GCC	p.S743A	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	743	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		TCAGCAATGGAATCATTTCCT	0.463										HNSCC(23;0.051)			C	24487912	A	C	24487912	3	2	104	1	0	0	0	0	1	0	0	0	3096	246	9	5	143	5	CDH10	5	24487912	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	961513	24487912	156427348	2194	68808											
CDH10	1008	broad.mit.edu	37	chr5	24505233	24505233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcttactgatttcagcagCaataacagtaagattatgcc	6	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:24505233C>T	uc003jgr.1	-	8	1713	c.1381G>A	c.(1381-1383)GCT>ACT	p.A461T	CDH10_uc011cnu.1_Intron	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	461	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		ATTTCAGCAGCAATAACAGTA	0.284										HNSCC(23;0.051)			T	24505233	C	T	24505233	3	4	104	1	0	0	0	0	1	0	0	0	3096	710	25	2	1005	2	CDH10	5	24505233	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	17321	24505233	156410027	2195	68809											
CDH9	1007	broad.mit.edu	37	chr5	26881475	26881475	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taatcttcgatggataaaatCttgtacatcaatattttccc	4	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:26881475C>A	uc003jgs.1	-	12	2309	c.2140G>T	c.(2140-2142)GAT>TAT	p.D714Y	CDH9_uc011cnv.1_Missense_Mutation_p.D307Y	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	714	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						TGGATAAAATCTTGTACATCA	0.418													A	26881475	C	A	26881475	3	1	104	1	0	0	0	0	1	0	0	0	3117	913	32	5	233	5	CDH9	5	26881475	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2376242	26881475	154033785	2196	68810											
CDH9	1007	broad.mit.edu	37	chr5	26881565	26881565	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccgtctaagtttactgtcttCtcttgcctctggattcctta	6	12	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:26881565C>A	uc003jgs.1	-	12	2219	c.2050G>T	c.(2050-2052)GAA>TAA	p.E684*	CDH9_uc011cnv.1_Nonsense_Mutation_p.E277*	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	684	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						TTACTGTCTTCTCTTGCCTCT	0.438													A	26881565	C	A	26881565	4	1	104	1	0	0	0	0	0	1	0	0	3117	922	32	5	323	5	CDH9	5	26881565	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	90	26881565	154033695	2197	68811											
CDH9	1007	broad.mit.edu	37	chr5	26890660	26890660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acggtccatatcagtatgccGatcaacagagtacctggcag	10	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:26890660G>A	uc003jgs.1	-	8	1436	c.1267C>T	c.(1267-1269)CGG>TGG	p.R423W	CDH9_uc011cnv.1_Missense_Mutation_p.R16W	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	423	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						TCAGTATGCCGATCAACAGAG	0.383													A	26890660	G	A	26890660	3	1	104	1	0	0	0	0	1	0	0	0	3117	1057	37	1	1122	1	CDH9	5	26890660	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	9095	26890660	154024600	2198	68812											
CDH9	1007	broad.mit.edu	37	chr5	26902745	26902745	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgaccacagctgtatcttTgaaaggtcccaggtgtaaga	10	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:26902745T>C	uc003jgs.1	-	7	1262	c.1093A>G	c.(1093-1095)AAA>GAA	p.K365E		NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	365	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						GCTGTATCTTTGAAAGGTCCC	0.378													C	26902745	T	C	26902745	3	2	104	1	0	0	0	0	1	0	0	0	3117	1821	63	3	1300	3	CDH9	5	26902745	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	12085	26902745	154012515	2199	68813											
CDH9	1007	broad.mit.edu	37	chr5	26988334	26988334	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgtcagacccgctatcTttttgcttgataaataactg	6	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:26988334T>C	uc003jgs.1	-	2	276	c.107A>G	c.(106-108)AAG>AGG	p.K36R	CDH9_uc010iug.2_Missense_Mutation_p.K36R	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	36					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						ACCCGCTATCTTTTTGCTTGA	0.388													C	26988334	T	C	26988334	3	2	104	1	0	0	0	0	1	0	0	0	3117	1609	56	3	2306	3	CDH9	5	26988334	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	85589	26988334	153926926	2200	68814											
CDH6	1004	broad.mit.edu	37	chr5	31313500	31313500	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatggttcgatttttacatcGaaacttcttgaccgagaaac	7	8	1	2	rs142200699		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:31313500G>A	uc003jhe.1	+	8	1655	c.1329G>A	c.(1327-1329)TCG>TCA	p.S443S	CDH6_uc003jhd.1_Silent_p.S443S	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	443	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						TTTTTACATCGAAACTTCTTG	0.393													A	31313500	G	A	31313500	2	1	104	1	0	0	0	0	0	0	0	1	3114	1045	37	1		1	CDH6	5	31313500	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4325166	31313500	149601760	2201	68815											
CDH6	1004	broad.mit.edu	37	chr5	31323161	31323161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgacggactccaacagctCgcgacaacaccgatgtcaga	9	16	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:31323161C>T	uc003jhe.1	+	12	2445	c.2119C>T	c.(2119-2121)CGC>TGC	p.R707C		NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	707	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.R707C(1)		ovary(4)|skin(2)|large_intestine(1)	7						TCCAACAGCTCGCGACAACAC	0.522													T	31323161	C	T	31323161	3	4	104	1	0	0	0	0	1	0	0	0	3114	884	31	1	2161	1	CDH6	5	31323161	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	9661	31323161	149592099	2202	68816											
RNASEN	29102	broad.mit.edu	37	chr5	31508786	31508786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagggtgggcctttttgCgtttgatttctgcaataacg	13	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:31508786C>T	uc003jhg.2	-	9	1888	c.1529G>A	c.(1528-1530)CGC>CAC	p.R510H	RNASEN_uc003jhh.2_Missense_Mutation_p.R473H|RNASEN_uc003jhi.2_Missense_Mutation_p.R473H|RNASEN_uc010iui.1_Missense_Mutation_p.R433H	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	510	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						GGCCTTTTTGCGTTTGATTTC	0.478													T	31508786	C	T	31508786	3	4	104	1	0	0	0	0	1	0	0	0	13417	768	27	1	2703	1	RNASEN	5	31508786	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	185625	31508786	149406474	2203	68817											
RNASEN	29102	broad.mit.edu	37	chr5	31521241	31521241	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttgcttaccttccagatctCttatactcttttttgtagga	5	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:31521241C>T	uc003jhg.2	-	5	1295	c.936G>A	c.(934-936)AAG>AAA	p.K312K	RNASEN_uc003jhh.2_Silent_p.K312K|RNASEN_uc003jhi.2_Silent_p.K312K|RNASEN_uc010iui.1_Intron	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	312	Arg-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						TTCCAGATCTCTTATACTCTT	0.423													T	31521241	C	T	31521241	2	4	104	1	0	0	0	0	0	0	0	1	13417	912	32	4		4	RNASEN	5	31521241	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	12455	31521241	149394019	2204	68818											
PDZD2	23037	broad.mit.edu	37	chr5	31799489	31799489	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catccagaagctgcaggagtAcatccagctgaactttgctg	10	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:31799489A>G	uc003jhl.2	+	2	522	c.134A>G	c.(133-135)TAC>TGC	p.Y45C	PDZD2_uc003jhm.2_Missense_Mutation_p.Y45C	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	45					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CTGCAGGAGTACATCCAGCTG	0.612													G	31799489	A	G	31799489	3	3	104	1	0	0	0	0	1	0	0	0	11701	391	14	3	136	3	PDZD2	5	31799489	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	278248	31799489	149115771	2205	68819											
PDZD2	23037	broad.mit.edu	37	chr5	32087704	32087704	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgctggagggagcagatTctgtgtcctcaagggcaccg	14	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:32087704T>G	uc003jhl.2	+	20	4538	c.4150T>G	c.(4150-4152)TCT>GCT	p.S1384A	PDZD2_uc003jhm.2_Missense_Mutation_p.S1384A	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1384					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GGGAGCAGATTCTGTGTCCTC	0.587													G	32087704	T	G	32087704	3	3	104	1	0	0	0	0	1	0	0	0	11701	1783	62	5	4224	5	PDZD2	5	32087704	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	288215	32087704	148827556	2206	68820											
ZFR	51663	broad.mit.edu	37	chr5	32388677	32388677	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttaaagcacgttcagtaataGaaacaattttctgaactgcc	6	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:32388677G>T	uc003jhr.1	-	13	2326	c.2246C>A	c.(2245-2247)TCT>TAT	p.S749Y	ZFR_uc011cny.1_RNA	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	749					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)		TTCAGTAATAGAAACAATTTT	0.393													T	32388677	G	T	32388677	3	4	104	1	0	0	0	0	1	0	0	0	17656	942	33	5	1010	5	ZFR	5	32388677	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	300973	32388677	148526583	2207	68821											
NPR3	4883	broad.mit.edu	37	chr5	32712124	32712124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccatcgagtatgctctgcGcagcgtggagggcaacggga	17	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:32712124G>A	uc003jhv.2	+	1	460	c.242G>A	c.(241-243)CGC>CAC	p.R81H	NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.R81H	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	81	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	TATGCTCTGCGCAGCGTGGAG	0.632													A	32712124	G	A	32712124	3	1	104	1	0	0	0	0	1	0	0	0	10596	1087	38	1	244	1	NPR3	5	32712124	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	323447	32712124	148203136	2208	68822											
NPR3	4883	broad.mit.edu	37	chr5	32774841	32774841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtttgttgaaggattccacGatgccatcctcctctacgtc	8	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:32774841G>A	uc003jhv.2	+	4	1305	c.1087G>A	c.(1087-1089)GAT>AAT	p.D363N	NPR3_uc010iuo.2_Missense_Mutation_p.D147N|NPR3_uc011cnz.1_Missense_Mutation_p.D147N|NPR3_uc003jhu.2_Missense_Mutation_p.D363N	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	363	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	AGGATTCCACGATGCCATCCT	0.438													A	32774841	G	A	32774841	3	1	104	1	0	0	0	0	1	0	0	0	10596	1058	37	1	1101	1	NPR3	5	32774841	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	62717	32774841	148140419	2209	68823											
NPR3	4883	broad.mit.edu	37	chr5	32783106	32783106	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgaaaaccgaattgtagaGcatacaaacagctctccctg	8	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:32783106G>A	uc003jhv.2	+	6	1616	c.1398G>A	c.(1396-1398)GAG>GAA	p.E466E	NPR3_uc010iuo.2_Silent_p.E250E|NPR3_uc011cnz.1_Silent_p.E250E|NPR3_uc003jhu.2_Silent_p.E466E	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	466	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	GAATTGTAGAGCATACAAACA	0.383													A	32783106	G	A	32783106	2	1	104	1	0	0	0	0	0	0	0	1	10596	962	34	2		2	NPR3	5	32783106	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	8265	32783106	148132154	2210	68824											
C5orf23	79614	broad.mit.edu	37	chr5	32789659	32789659	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagagaaatgcatgggaaaaGaacacctccttttctccttt	8	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:32789659G>T	uc003jhw.1	+	1	715	c.152G>T	c.(151-153)AGA>ATA	p.R51I		NM_024563	NP_078839			hypothetical protein LOC79614												0						CATGGGAAAAGAACACCTCCT	0.383													T	32789659	G	T	32789659	3	4	104	1	0	0	0	0	1	0	0	0	2286	942	33	5	154	5	C5orf23	5	32789659	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	6553	32789659	148125601	2211	68825											
TARS	6897	broad.mit.edu	37	chr5	33467669	33467669	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtttgttttagttgtTggtgaaaaagagaaaatcag	12	1	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:33467669T>G	uc003jhy.2	+	19	2323	c.2028T>G	c.(2026-2028)GTT>GTG	p.V676V	TARS_uc011cob.1_Silent_p.V664V|TARS_uc011coc.1_Silent_p.V697V|TARS_uc003jhz.2_Silent_p.V572V|TARS_uc011cod.1_Silent_p.V555V	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	676					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)	TTTTAGTTGTTGGTGAAAAAG	0.403													G	33467669	T	G	33467669	2	3	104	1	0	0	0	0	0	0	0	1	15556	1799	63	5		5	TARS	5	33467669	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	678010	33467669	147447591	2212	68826											
C1QTNF3	114899	broad.mit.edu	37	chr5	34033499	34033499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccccaggtcacctttgtcGcccttctcacctttggctcc	8	18	2	0	rs147942281	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:34033499G>A	uc003jin.2	-	3	348	c.261C>T	c.(259-261)GGC>GGT	p.G87G	C1QTNF3_uc003jio.2_Silent_p.G160G	NM_030945	NP_112207	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	87	Collagen-like.					collagen					0	all_lung(31;0.0207)					CACCTTTGTCGCCCTTCTCAC	0.542													A	34033499	G	A	34033499	2	1	104	1	0	0	0	0	0	0	0	1	1964	1074	38	1		1	C1QTNF3	5	34033499	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	565830	34033499	146881761	2213	68827											
RAI14	26064	broad.mit.edu	37	chr5	34807920	34807920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatagtctaaatgcccagccGaaagtgtcgacagctctggg	11	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:34807920G>A	uc003jir.2	+	6	533	c.337G>A	c.(337-339)GAA>AAA	p.E113K	RAI14_uc010iur.2_Missense_Mutation_p.E113K|RAI14_uc011coj.1_Missense_Mutation_p.E113K|RAI14_uc010ius.1_Missense_Mutation_p.E42K|RAI14_uc003jis.2_Missense_Mutation_p.E116K|RAI14_uc003jit.2_Missense_Mutation_p.E113K|RAI14_uc011cok.1_Missense_Mutation_p.E105K	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	113	ANK 3.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					ATGCCCAGCCGAAAGTGTCGA	0.363													A	34807920	G	A	34807920	3	1	104	1	0	0	0	0	1	0	0	0	13008	1059	37	1	420	1	RAI14	5	34807920	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	774421	34807920	146107340	2214	68828											
TTC23L	153657	broad.mit.edu	37	chr5	34845772	34845772	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagctcagctgattaaggaAaaaatggtaaaacaaaaaac	8	5	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:34845772A>G	uc003jiu.2	+	3	352	c.249A>G	c.(247-249)GAA>GAG	p.E83E		NM_144725	NP_653326	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	83	Potential.						binding			central_nervous_system(1)	1						TGATTAAGGAAAAAATGGTAA	0.348													G	34845772	A	G	34845772	2	3	104	1	0	0	0	0	0	0	0	1	16688	11	1	3		3	TTC23L	5	34845772	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	37852	34845772	146069488	2215	68829											
RAD1	5810	broad.mit.edu	37	chr5	34913634	34913634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggacagttaaattaattCgaaaagtaacagactcttcc	6	7	1	1	rs150523066		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:34913634C>T	uc003jix.2	-	3	577	c.248G>A	c.(247-249)CGA>CAA	p.R83Q	RAD1_uc003jiw.2_Intron|RAD1_uc003jiy.2_Missense_Mutation_p.R83Q|BRIX1_uc003jiz.2_5'Flank|BRIX1_uc011col.1_5'Flank|BRIX1_uc003jja.2_5'Flank	NM_002853	NP_002844	O60671	RAD1_HUMAN	RAD1 homolog	83					DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding				0	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TAAATTAATTCGAAAAGTAAC	0.279								Other_conserved_DNA_damage_response_genes					T	34913634	C	T	34913634	3	4	104	1	0	0	0	0	1	0	0	0	12978	884	31	1	616	1	RAD1	5	34913634	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	67862	34913634	146001626	2216	68830											
AGXT2	64902	broad.mit.edu	37	chr5	35035348	35035348	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagaaatgatgtctatgTtgtttgagtgcgccctggcc	12	7	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:35035348T>C	uc003jjf.2	-	5	639	c.560A>G	c.(559-561)AAC>AGC	p.N187S	AGXT2_uc011com.1_Missense_Mutation_p.N187S|AGXT2_uc011con.1_Missense_Mutation_p.N95S	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	alanine-glyoxylate aminotransferase 2 precursor	187					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(3)|skin(1)	4	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GATGTCTATGTTGTTTGAGTG	0.448													C	35035348	T	C	35035348	3	2	104	1	0	0	0	0	1	0	0	0	405	1725	60	3	1024	3	AGXT2	5	35035348	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	121714	35035348	145879912	2217	68831											
AGXT2	64902	broad.mit.edu	37	chr5	35039553	35039553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggtttctggaaatatgCcgtcaccacaggagaaagat	12	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:35039553C>T	uc003jjf.2	-	3	317	c.238G>A	c.(238-240)GCA>ACA	p.A80T	AGXT2_uc011com.1_Missense_Mutation_p.A80T|AGXT2_uc011con.1_5'UTR	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	alanine-glyoxylate aminotransferase 2 precursor	80					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(3)|skin(1)	4	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TGGAAATATGCCGTCACCACA	0.473													T	35039553	C	T	35039553	3	4	104	1	0	0	0	0	1	0	0	0	405	739	26	2	1354	2	AGXT2	5	35039553	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4205	35039553	145875707	2218	68832											
SPEF2	79925	broad.mit.edu	37	chr5	35628563	35628563	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgttttgaaactcaggTcccaagtcatttgcaaaggc	8	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:35628563T>C	uc003jjo.2	+	2	171	c.60T>C	c.(58-60)AGT>AGC	p.S20S	SPEF2_uc003jjn.1_Silent_p.S20S|SPEF2_uc003jjq.3_Silent_p.S20S	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	20	CH.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAAACTCAGGTCCCAAGTCAT	0.338													C	35628563	T	C	35628563	2	2	104	1	0	0	0	0	0	0	0	1	15034	1681	58	3		3	SPEF2	5	35628563	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	589010	35628563	145286697	2219	68833											
IL7R	3575	broad.mit.edu	37	chr5	35873660	35873660	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caatgtatgagattaaagttCgatccatccctgatcactat	6	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:35873660C>T	uc003jjs.2	+	5	705	c.616C>T	c.(616-618)CGA>TGA	p.R206*	IL7R_uc011coo.1_Nonsense_Mutation_p.R206*|IL7R_uc011cop.1_Intron	NM_002185	NP_002176	P16871	IL7RA_HUMAN	interleukin 7 receptor precursor	206	Extracellular (Potential).|Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			ovary(3)|breast(1)|skin(1)	5	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GATTAAAGTTCGATCCATCCC	0.423													T	35873660	C	T	35873660	4	4	104	1	0	0	0	0	0	1	0	0	7705	876	31	1	634	1	IL7R	5	35873660	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	245097	35873660	145041600	2220	68834											
UGT3A1	133688	broad.mit.edu	37	chr5	35965926	35965926	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accagatcatagttctcattCtttaaggaatccattatatc	4	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:35965926C>A	uc003jjv.1	-	4	562	c.405G>T	c.(403-405)AAG>AAT	p.K135N	UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.K135N|UGT3A1_uc011cor.1_Missense_Mutation_p.K101N|UGT3A1_uc003jjy.1_Missense_Mutation_p.K81N	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	135	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTTCTCATTCTTTAAGGAAT	0.358													A	35965926	C	A	35965926	3	1	104	1	0	0	0	0	1	0	0	0	16960	912	32	5	1264	5	UGT3A1	5	35965926	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	92266	35965926	144949334	2221	68835											
UGT3A2	167127	broad.mit.edu	37	chr5	36049086	36049086	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaggcaaagtcagagtTaatgaaccacaactctgctt	7	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:36049086T>G	uc003jjz.1	-	4	841	c.748A>C	c.(748-750)AAC>CAC	p.N250H	UGT3A2_uc011cos.1_Missense_Mutation_p.N216H|UGT3A2_uc011cot.1_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	250	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGTCAGAGTTAATGAACCAC	0.418													G	36049086	T	G	36049086	3	3	104	1	0	0	0	0	1	0	0	0	16961	1754	61	5	839	5	UGT3A2	5	36049086	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	83160	36049086	144866174	2222	68836											
SKP2	6502	broad.mit.edu	37	chr5	36166751	36166751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttatggaccaaccattgGctgaacatttcaggtaaaga	8	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:36166751G>A	uc003jkc.1	+	4	705	c.523G>A	c.(523-525)GCT>ACT	p.A175T	SKP2_uc011cou.1_Missense_Mutation_p.A6T|SKP2_uc003jkd.2_Missense_Mutation_p.A175T	NM_005983	NP_005974	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2 isoform 1	175	LRR 2.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCAACCATTGGCTGAACATTT	0.413													A	36166751	G	A	36166751	3	1	104	1	0	0	0	0	1	0	0	0	14362	1203	42	2	537	2	SKP2	5	36166751	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	117665	36166751	144748509	2223	68837											
SLC1A3	6507	broad.mit.edu	37	chr5	36608664	36608664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgttaaaagttacctgtttCggaatgcttttgtgctgctc	9	7	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:36608664C>T	uc003jkj.3	+	2	615	c.139C>T	c.(139-141)CGG>TGG	p.R47W	SLC1A3_uc011cox.1_5'UTR|SLC1A3_uc010iuy.2_Missense_Mutation_p.R47W	NM_004172	NP_004163	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity	47	Cytoplasmic (Potential).				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TTACCTGTTTCGGAATGCTTT	0.443													T	36608664	C	T	36608664	3	4	104	1	0	0	0	0	1	0	0	0	14433	875	31	1	141	1	SLC1A3	5	36608664	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	441913	36608664	144306596	2224	68838											
SLC1A3	6507	broad.mit.edu	37	chr5	36671167	36671167	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtaaggcatcagggaagaTgggaatgcgagctgtagtct	15	5	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:36671167T>C	uc003jkj.3	+	4	832	c.356T>C	c.(355-357)ATG>ACG	p.M119T	SLC1A3_uc011cox.1_Missense_Mutation_p.M12T|SLC1A3_uc010iuy.2_Missense_Mutation_p.M119T	NM_004172	NP_004163	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity	119					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TCAGGGAAGATGGGAATGCGA	0.463													C	36671167	T	C	36671167	3	2	104	1	0	0	0	0	1	0	0	0	14433	1464	51	3	383	3	SLC1A3	5	36671167	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	62503	36671167	144244093	2225	68839											
SLC1A3	6507	broad.mit.edu	37	chr5	36677045	36677045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtgcccatccaggccaacGaaacgcttgtgggtgctgtg	13	11	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:36677045G>A	uc003jkj.3	+	6	1095	c.619G>A	c.(619-621)GAA>AAA	p.E207K	SLC1A3_uc011cox.1_Missense_Mutation_p.E100K|SLC1A3_uc010iuy.2_Missense_Mutation_p.E207K	NM_004172	NP_004163	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity	207	Extracellular (Potential).				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	CCAGGCCAACGAAACGCTTGT	0.393													A	36677045	G	A	36677045	3	1	104	1	0	0	0	0	1	0	0	0	14433	1059	37	1	654	1	SLC1A3	5	36677045	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5878	36677045	144238215	2226	68840											
NIPBL	25836	broad.mit.edu	37	chr5	36971016	36971016	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgcaggtggtttgagaAacatacatgataataaagtt	10	3	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:36971016A>C	uc003jkl.3	+	7	1148	c.649A>C	c.(649-651)AAC>CAC	p.N217H	NIPBL_uc003jkk.3_Missense_Mutation_p.N217H|NIPBL_uc003jkm.1_Missense_Mutation_p.N96H	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	217					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGGTTTGAGAAACATACATGA	0.348													C	36971016	A	C	36971016	3	2	104	1	0	0	0	0	1	0	0	0	10428	14	1	5	671	5	NIPBL	5	36971016	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	293971	36971016	143944244	2227	68841											
C5orf42	65250	broad.mit.edu	37	chr5	37183640	37183640	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggaatttaatatattcaTcatcatcacgttcaaattcc	3	9	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:37183640T>G	uc011cpa.1	-	26	4874	c.4643A>C	c.(4642-4644)GAT>GCT	p.D1548A	C5orf42_uc011coy.1_Missense_Mutation_p.D49A|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.D623A|C5orf42_uc011cpb.1_Missense_Mutation_p.D429A	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1548										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)			AATATATTCATCATCATCACG	0.318													G	37183640	T	G	37183640	3	3	104	1	0	0	0	0	1	0	0	0	2301	1435	50	5	5058	5	C5orf42	5	37183640	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	212624	37183640	143731620	2228	68842											
NUP155	9631	broad.mit.edu	37	chr5	37299063	37299063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctatccgaggagctcaatgTcacactgtcactcaattctg	7	12	6	0	rs144851445		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:37299063T>C	uc003jku.1	-	32	3818	c.3700A>G	c.(3700-3702)ACA>GCA	p.T1234A	NUP155_uc003jkt.1_Missense_Mutation_p.T1175A|NUP155_uc010iuz.1_Missense_Mutation_p.T1170A	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	1234					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGCTCAATGTCACACTGTCA	0.363													C	37299063	T	C	37299063	3	2	104	1	0	0	0	0	1	0	0	0	10756	1667	58	3	491	3	NUP155	5	37299063	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	115423	37299063	143616197	2229	68843											
WDR70	55100	broad.mit.edu	37	chr5	37727132	37727132	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agacagcccatattgggtttCtccagcatattccaagtgag	9	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:37727132C>T	uc003jkv.2	+	17	1920	c.1862C>T	c.(1861-1863)TCT>TTT	p.S621F		NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70	621										ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TATTGGGTTTCTCCAGCATAT	0.383													T	37727132	C	T	37727132	3	4	104	1	0	0	0	0	1	0	0	0	17318	913	32	4	1928	4	WDR70	5	37727132	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	428069	37727132	143188128	2230	68844											
LIFR	3977	broad.mit.edu	37	chr5	38481831	38481831	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggacttccaaatgagacaaTctcactgttgctgtctatgg	9	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:38481831T>G	uc010ive.1	-	20	3492	c.3160A>C	c.(3160-3162)ATT>CTT	p.I1054L	LIFR_uc003jli.2_Missense_Mutation_p.I1054L	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	1054	Cytoplasmic (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					AATGAGACAATCTCACTGTTG	0.423			T	PLAG1	salivary adenoma								G	38481831	T	G	38481831	3	3	104	1	0	0	0	0	1	0	0	0	8780	1435	50	5	137	5	LIFR	5	38481831	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	754699	38481831	142433429	2231	68845											
LIFR	3977	broad.mit.edu	37	chr5	38506127	38506127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaataataattgatagctttCgtttgtaggtgcttcagctc	8	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:38506127C>T	uc010ive.1	-	9	1503	c.1171G>A	c.(1171-1173)GAA>AAA	p.E391K	LIFR_uc003jli.2_Missense_Mutation_p.E391K	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	391	Fibronectin type-III 2.|Extracellular (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					TGATAGCTTTCGTTTGTAGGT	0.289			T	PLAG1	salivary adenoma								T	38506127	C	T	38506127	3	4	104	1	0	0	0	0	1	0	0	0	8780	893	31	1	2170	1	LIFR	5	38506127	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	24296	38506127	142409133	2232	68846											
OSMR	9180	broad.mit.edu	37	chr5	38884119	38884119	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattcaacttgaatagtgtGcctttcattaggaataaagg	9	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:38884119G>A	uc003jln.1	+	5	976	c.609G>A	c.(607-609)GTG>GTA	p.V203V	OSMR_uc003jlm.1_Silent_p.V203V	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	203	Extracellular (Potential).				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)					TGAATAGTGTGCCTTTCATTA	0.368													A	38884119	G	A	38884119	2	1	104	1	0	0	0	0	0	0	0	1	11292	1306	46	2		2	OSMR	5	38884119	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	377992	38884119	142031141	2233	68847											
OSMR	9180	broad.mit.edu	37	chr5	38924691	38924691	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacgatttgaaaaggcagttCtttcaggtgacatctatttt	8	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:38924691C>A	uc003jln.1	+	14	2405	c.2038C>A	c.(2038-2040)CTT>ATT	p.L680I	OSMR_uc011cpj.1_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	680	Fibronectin type-III 4.|Extracellular (Potential).				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)					AAAGGCAGTTCTTTCAGGTGA	0.328													A	38924691	C	A	38924691	3	1	104	1	0	0	0	0	1	0	0	0	11292	913	32	5	2126	5	OSMR	5	38924691	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	40572	38924691	141990569	2234	68848											
RICTOR	253260	broad.mit.edu	37	chr5	38945754	38945754	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatggattgaattcattattTccgtaagactcatctgctgt	7	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:38945754T>G	uc003jlp.2	-	34	4496	c.4472A>C	c.(4471-4473)GAA>GCA	p.E1491A	RICTOR_uc003jlo.2_Missense_Mutation_p.E1515A|RICTOR_uc010ivf.2_Intron	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	1491					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					ATTCATTATTTCCGTAAGACT	0.363													G	38945754	T	G	38945754	3	3	104	1	0	0	0	0	1	0	0	0	13358	1783	62	5	674	5	RICTOR	5	38945754	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	21063	38945754	141969506	2235	68849											
FYB	2533	broad.mit.edu	37	chr5	39202791	39202791	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agctggctggtgttccgaatCtttggcctgctccagtgggc	14	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:39202791C>A	uc003jls.2	-	1	339	c.272G>T	c.(271-273)AGA>ATA	p.R91I	FYB_uc003jlt.2_Missense_Mutation_p.R91I|FYB_uc003jlu.2_Missense_Mutation_p.R91I|FYB_uc011cpl.1_Missense_Mutation_p.R101I	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2	91					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)			TGTTCCGAATCTTTGGCCTGC	0.552													A	39202791	C	A	39202791	3	1	104	1	0	0	0	0	1	0	0	0	6124	913	32	5	2289	5	FYB	5	39202791	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	257037	39202791	141712469	2236	68850											
C9	735	broad.mit.edu	37	chr5	39311447	39311447	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attacaaatcttcccagatgAatttctcctttcacatgcag	4	11	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:39311447A>G	uc003jlv.3	-	7	992	c.903T>C	c.(901-903)ATT>ATC	p.I301I		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	301	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTCCCAGATGAATTTCTCCTT	0.348													G	39311447	A	G	39311447	2	3	104	1	0	0	0	0	0	0	0	1	2443	242	9	3		3	C9	5	39311447	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	108656	39311447	141603813	2237	68851											
C9	735	broad.mit.edu	37	chr5	39342196	39342196	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagatgaacacttaccatTtgtctgagacaaggatcgca	11	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:39342196T>G	uc003jlv.3	-	2	269	c.180A>C	c.(178-180)CAA>CAC	p.Q60H		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	60	TSP type-1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CACTTACCATTTGTCTGAGAC	0.493													G	39342196	T	G	39342196	3	3	104	1	0	0	0	0	1	0	0	0	2443	1838	64	5	1539	5	C9	5	39342196	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	30749	39342196	141573064	2238	68852											
DAB2	1601	broad.mit.edu	37	chr5	39376141	39376141	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaatctttaaagaaagggttCtcaaatgcattgtcagtaga	9	5	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:39376141C>A	uc003jlx.2	-	13	2736	c.2205G>T	c.(2203-2205)GAG>GAT	p.E735D	DAB2_uc003jlw.2_Missense_Mutation_p.E714D	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	735	Required for interaction with MYO6 (By similarity).				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			AGAAAGGGTTCTCAAATGCAT	0.428													A	39376141	C	A	39376141	3	1	104	1	0	0	0	0	1	0	0	0	4218	912	32	5	115	5	DAB2	5	39376141	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	33945	39376141	141539119	2239	68853											
DAB2	1601	broad.mit.edu	37	chr5	39382876	39382876	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcttcccacaaaagggttCggggaggatttgacagagaa	15	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:39382876C>T	uc003jlx.2	-	10	1716	c.1185G>A	c.(1183-1185)CCG>CCA	p.P395P	DAB2_uc003jlw.2_Silent_p.P374P	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	395					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			CAAAAGGGTTCGGGGAGGATT	0.512													T	39382876	C	T	39382876	2	4	104	1	0	0	0	0	0	0	0	1	4218	871	31	1		1	DAB2	5	39382876	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	6735	39382876	141532384	2240	68854											
PRKAA1	5562	broad.mit.edu	37	chr5	40767575	40767575	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actgctttattacctgatatCtttgattgtggccctcttca	6	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:40767575C>A	uc003jmc.2	-	6	820	c.814G>T	c.(814-816)GAT>TAT	p.D272Y	PRKAA1_uc003jmb.2_Missense_Mutation_p.D287Y	NM_006251	NP_006242	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic	272	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TACCTGATATCTTTGATTGTG	0.269													A	40767575	C	A	40767575	3	1	104	1	0	0	0	0	1	0	0	0	12493	913	32	5	881	5	PRKAA1	5	40767575	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1384699	40767575	140147685	2241	68855											
CARD6	84674	broad.mit.edu	37	chr5	40852710	40852710	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taatgctgggggccatgaaaGacattgtgaagaagcagtca	13	6	1	4	rs148937373		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:40852710G>T	uc003jmg.2	+	3	1351	c.1276G>T	c.(1276-1278)GAC>TAC	p.D426Y		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	426					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5						GGCCATGAAAGACATTGTGAA	0.458													T	40852710	G	T	40852710	3	4	104	1	0	0	0	0	1	0	0	0	2650	942	33	5	1286	5	CARD6	5	40852710	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	85135	40852710	140062550	2242	68856											
CARD6	84674	broad.mit.edu	37	chr5	40853422	40853422	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtagatgaagactttgaaaAcactcagagaattcaagttt	9	5	2	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:40853422A>G	uc003jmg.2	+	3	2063	c.1988A>G	c.(1987-1989)AAC>AGC	p.N663S		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	663					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5						GACTTTGAAAACACTCAGAGA	0.488													G	40853422	A	G	40853422	3	3	104	1	0	0	0	0	1	0	0	0	2650	43	2	3	1998	3	CARD6	5	40853422	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	712	40853422	140061838	2243	68857											
HEATR7B2	133558	broad.mit.edu	37	chr5	40998171	40998171	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttacagaggaatgcttgTctctttacaccttctcagga	9	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:40998171T>C	uc003jmj.3	-	42	5231	c.4741A>G	c.(4741-4743)ACA>GCA	p.T1581A	HEATR7B2_uc003jmi.3_Missense_Mutation_p.T1136A	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1581							binding			ovary(6)|central_nervous_system(2)	8						GGAATGCTTGTCTCTTTACAC	0.453													C	40998171	T	C	40998171	3	2	104	1	0	0	0	0	1	0	0	0	7035	1667	58	3	20	3	HEATR7B2	5	40998171	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	144749	40998171	139917089	2244	68858											
HEATR7B2	133558	broad.mit.edu	37	chr5	41058242	41058242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcccagggcgtatccacGgaagtcttcccgatgcagca	12	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:41058242G>A	uc003jmj.3	-	7	1169	c.679C>T	c.(679-681)CGT>TGT	p.R227C	HEATR7B2_uc003jmi.3_5'UTR	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	227							binding			ovary(6)|central_nervous_system(2)	8						GCGTATCCACGGAAGTCTTCC	0.512													A	41058242	G	A	41058242	3	1	104	1	0	0	0	0	1	0	0	0	7035	1116	39	1	4222	1	HEATR7B2	5	41058242	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	60071	41058242	139857018	2245	68859											
C6	729	broad.mit.edu	37	chr5	41181522	41181522	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatggttgatattttcacttCtctttgaggaataaaaaatt	6	4	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:41181522C>T	uc003jmk.2	-	7	1076	c.866G>A	c.(865-867)AGA>AAA	p.R289K	C6_uc003jml.1_Missense_Mutation_p.R289K	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	289	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATTTTCACTTCTCTTTGAGGA	0.363													T	41181522	C	T	41181522	3	4	104	1	0	0	0	0	1	0	0	0	2315	913	32	4	1986	4	C6	5	41181522	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	123280	41181522	139733738	2246	68860											
PLCXD3	345557	broad.mit.edu	37	chr5	41382433	41382433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcattgtcggggtctctggGcttggtggaaattcgaagat	14	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:41382433G>A	uc003jmm.1	-	2	409	c.307C>T	c.(307-309)CCC>TCC	p.P103S		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	103	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.P103P(1)		skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						GGGTCTCTGGGCTTGGTGGAA	0.443													A	41382433	G	A	41382433	3	1	104	1	0	0	0	0	1	0	0	0	12043	1203	42	2	666	2	PLCXD3	5	41382433	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	200911	41382433	139532827	2247	68861											
GHR	2690	broad.mit.edu	37	chr5	42719381	42719381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttccaggttctgagatgcCtgtcccagactatacctcca	8	13	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:42719381C>T	uc003jmt.2	+	10	1815	c.1772C>T	c.(1771-1773)CCT>CTT	p.P591L	GHR_uc011cpq.1_Missense_Mutation_p.P404L	NM_000163	NP_000154	P10912	GHR_HUMAN	growth hormone receptor precursor	591	Cytoplasmic (Potential).				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			lung(4)|kidney(1)|skin(1)	6		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCTGAGATGCCTGTCCCAGAC	0.502													T	42719381	C	T	42719381	3	4	104	1	0	0	0	0	1	0	0	0	6371	681	24	4	1806	4	GHR	5	42719381	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1336948	42719381	138195879	2248	68862											
C5orf28	64417	broad.mit.edu	37	chr5	43446338	43446338	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgtacctcagacatcaatacGaactccatgttttgaagaca	6	10	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:43446338G>T	uc003jny.2	-	3	777	c.634C>A	c.(634-636)CGT>AGT	p.R212S	C5orf28_uc003jnv.3_Missense_Mutation_p.R212S|C5orf28_uc003jnx.2_Missense_Mutation_p.R212S	NM_022483	NP_071928	Q0VDI3	CE028_HUMAN	hypothetical protein LOC64417	212						integral to membrane					0	Lung NSC(6;2.07e-05)					ACATCAATACGAACTCCATGT	0.343													T	43446338	G	T	43446338	3	4	104	1	0	0	0	0	1	0	0	0	2289	1058	37	5	17	5	C5orf28	5	43446338	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	726957	43446338	137468922	2249	68863											
C5orf34	375444	broad.mit.edu	37	chr5	43490760	43490760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttggagaacagaagatgacGaatgagtgggcatctctctg	13	7	2	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:43490760G>A	uc003jnz.1	-	12	1969	c.1652C>T	c.(1651-1653)TCG>TTG	p.S551L		NM_198566	NP_940968	Q96MH7	CE034_HUMAN	hypothetical protein LOC375444	551										breast(1)	1	Lung NSC(6;2.07e-05)					AGAAGATGACGAATGAGTGGG	0.323													A	43490760	G	A	43490760	3	1	104	1	0	0	0	0	1	0	0	0	2293	1059	37	1	276	1	C5orf34	5	43490760	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	44422	43490760	137424500	2250	68864											
NNT	23530	broad.mit.edu	37	chr5	43613147	43613147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtggaatcgggtgcgggcGaagcttccaagttctcagat	14	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:43613147G>A	uc003joe.2	+	3	544	c.289G>A	c.(289-291)GAA>AAA	p.E97K	NNT_uc003jof.2_Missense_Mutation_p.E97K	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	97	Mitochondrial matrix.				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	GGGTGCGGGCGAAGCTTCCAA	0.473													A	43613147	G	A	43613147	3	1	104	1	0	0	0	0	1	0	0	0	10510	1059	37	1	295	1	NNT	5	43613147	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	122387	43613147	137302113	2251	68865											
MRPS30	10884	broad.mit.edu	37	chr5	44811250	44811250	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attcgaatatccaagcaactCgcagaggtaaggatttattg	9	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:44811250C>T	uc003joh.2	+	2	779	c.741C>T	c.(739-741)CTC>CTT	p.L247L	MRPS30_uc003joi.1_RNA	NM_016640	NP_057724	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	247					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome				0	Lung NSC(6;8.08e-07)					CCAAGCAACTCGCAGAGGTAA	0.368													T	44811250	C	T	44811250	2	4	104	1	0	0	0	0	0	0	0	1	9840	871	31	1		1	MRPS30	5	44811250	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1198103	44811250	136104010	2252	68866											
PARP8	79668	broad.mit.edu	37	chr5	50117077	50117077	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactagtatccatgtgtaggTctgcgttggaatctcctaga	10	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:50117077T>C	uc003jon.3	+	17	1881	c.1699T>C	c.(1699-1701)TCT>CCT	p.S567P	PARP8_uc011cpz.1_Missense_Mutation_p.S459P|PARP8_uc003joo.2_Missense_Mutation_p.S567P|PARP8_uc003jop.2_Intron	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	567						intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				CATGTGTAGGTCTGCGTTGGA	0.423													C	50117077	T	C	50117077	3	2	104	1	0	0	0	0	1	0	0	0	11465	1667	58	3	1761	3	PARP8	5	50117077	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	5305827	50117077	130798183	2253	68867											
ITGA1	3672	broad.mit.edu	37	chr5	52216277	52216277	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcgaaaatcagaatgcacTaagcactccttctacatgtt	6	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:52216277T>G	uc003jou.2	+	17	2323	c.2271T>G	c.(2269-2271)ACT>ACG	p.T757T	ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Silent_p.T288T	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	757	Extracellular (Potential).				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CAGAATGCACTAAGCACTCCT	0.358													G	52216277	T	G	52216277	2	3	104	1	0	0	0	0	0	0	0	1	7872	1509	53	5		5	ITGA1	5	52216277	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2099200	52216277	128698983	2254	68868											
FST	10468	broad.mit.edu	37	chr5	52779982	52779982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctactgtgtgacctgtaatCggatttgcccagagcctgct	10	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:52779982C>T	uc003jpd.2	+	4	607	c.580C>T	c.(580-582)CGG>TGG	p.R194W	FST_uc003jpc.2_Missense_Mutation_p.R194W	NM_013409	NP_037541	P19883	FST_HUMAN	follistatin isoform FST344 precursor	194	Kazal-like 2.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity				0		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GACCTGTAATCGGATTTGCCC	0.517													T	52779982	C	T	52779982	3	4	104	1	0	0	0	0	1	0	0	0	6076	875	31	1	594	1	FST	5	52779982	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	563705	52779982	128135278	2255	68869											
GZMA	3001	broad.mit.edu	37	chr5	54404084	54404084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaatagtgcatcttggtcCgatactctgagagaagtcaa	9	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:54404084C>T	uc003jpm.2	+	4	526	c.489C>T	c.(487-489)TCC>TCT	p.S163S		NM_006144	NP_006135	P12544	GRAA_HUMAN	granzyme A precursor	163	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CATCTTGGTCCGATACTCTGA	0.423													T	54404084	C	T	54404084	2	4	104	1	0	0	0	0	0	0	0	1	6915	639	23	1		1	GZMA	5	54404084	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1624102	54404084	126511176	2256	68870											
PPAP2A	8611	broad.mit.edu	37	chr5	54721131	54721131	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctttctttaaaagaagttCtttctttgaagaaatccgat	5	6	4	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:54721131C>A	uc003jqa.2	-	6	1174	c.758G>T	c.(757-759)AGA>ATA	p.R253I	SKIV2L2_uc003jpy.3_3'UTR|SKIV2L2_uc011cqi.1_3'UTR|PPAP2A_uc003jpz.2_Missense_Mutation_p.R254I|PPAP2A_uc003jqb.2_RNA	NM_003711	NP_003702	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A isoform 1	253	Cytoplasmic (Potential).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			ovary(2)	2		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				AAAAGAAGTTCTTTCTTTGAA	0.348													A	54721131	C	A	54721131	3	1	104	1	0	0	0	0	1	0	0	0	12290	913	32	5	100	5	PPAP2A	5	54721131	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	317047	54721131	126194129	2257	68871											
SLC38A9	153129	broad.mit.edu	37	chr5	54922328	54922329	+	Frame_Shift_Ins	INS	-	-	A													cagttgaggtatttcacataINSaaaaactgaacaatcaggtt							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:54922327_54922328T>TA	uc003jqf.2	-	15	2272_2273	c.1680_1681A>TA	c.(1678-1683)tttatgfs	p.F560fs	SLC38A9_uc003jqd.2_Frame_Shift_Ins_p.F497fs|SLC38A9_uc010ivx.2_Frame_Shift_Ins_p.F497fs|SLC38A9_uc003jqe.2_Non-coding_Transcript|SLC38A9_uc010ivy.2_Frame_Shift_Ins_p.F431fs	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN	Homo sapiens solute carrier family 38, member 9 (SLC38A9), mRNA.	560					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				GTATTTCACATAAAAAACTGAA	0.366													A	54922329	-	A	54922328	7	5	104	1	0	1	1	0	0	0	0	0	14611	359	13	0	9	0	SLC38A9	5	54922328	Frame_Shift_Ins	INS	-	TCGA-BR-8680-01A-11D-2394-08	201197	54922328	125992932	2258	68872											
SLC38A9	153129	broad.mit.edu	37	chr5	54993700	54993700	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcttagatccgatggctcAaactggatattcataggtcc	9	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:54993700A>C	uc003jqf.2	-	3	288	c.87T>G	c.(85-87)TTT>TTG	p.F29L	SLC38A9_uc010ivy.2_5'UTR	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	29					amino acid transport|sodium ion transport	integral to membrane					0		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				CCGATGGCTCAAACTGGATAT	0.338													C	54993700	A	C	54993700	3	2	104	1	0	0	0	0	1	0	0	0	14611	127	5	5	1654	5	SLC38A9	5	54993700	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	71372	54993700	125921560	2259	68873											
DDX4	54514	broad.mit.edu	37	chr5	55059080	55059080	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaagagttttggaaacagaGgtaattacttggttatgata	11	2	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:55059080G>T	uc003jqg.3	+	5	357	c.283G>T	c.(283-285)GGT>TGT	p.G95C	DDX4_uc010ivz.2_Missense_Mutation_p.G95C|DDX4_uc003jqh.3_Missense_Mutation_p.G95C	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform	95	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|skin(1)	2		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGAAACAGAGGTAATTACTT	0.323													T	55059080	G	T	55059080	3	4	104	1	0	0	0	0	1	0	0	0	4360	1014	35	5	297	5	DDX4	5	55059080	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	65380	55059080	125856180	2260	68874											
DDX4	54514	broad.mit.edu	37	chr5	55082355	55082355	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taaattttcagacttttgaaGaagctaatctctgtcagaca	6	7	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:55082355G>T	uc003jqg.3	+	14	948	c.874G>T	c.(874-876)GAA>TAA	p.E292*	DDX4_uc010ivz.2_Nonsense_Mutation_p.E272*|DDX4_uc003jqh.3_Nonsense_Mutation_p.E258*|DDX4_uc003jqj.2_Nonsense_Mutation_p.E143*	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform	292	Q motif.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|skin(1)	2		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GACTTTTGAAGAAGCTAATCT	0.323													T	55082355	G	T	55082355	4	4	104	1	0	0	0	0	0	1	0	0	4360	943	33	5	965	5	DDX4	5	55082355	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	23275	55082355	125832905	2261	68875											
IL31RA	133396	broad.mit.edu	37	chr5	55164656	55164656	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaacatttcctgtgtctaCtactataggaaaaatttaac	6	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:55164656C>A	uc003jql.2	+	3	257	c.192C>A	c.(190-192)TAC>TAA	p.Y64*	IL31RA_uc003jqk.2_Nonsense_Mutation_p.Y64*|IL31RA_uc011cqj.1_Intron|IL31RA_uc003jqm.2_Nonsense_Mutation_p.Y32*|IL31RA_uc003jqn.2_Nonsense_Mutation_p.Y64*|IL31RA_uc010iwa.1_Nonsense_Mutation_p.Y32*|IL31RA_uc003jqo.2_5'UTR	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	32	Extracellular (Potential).|Fibronectin type-III 1.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CCTGTGTCTACTACTATAGGA	0.373													A	55164656	C	A	55164656	4	1	104	1	0	0	0	0	0	1	0	0	7691	576	20	5	202	5	IL31RA	5	55164656	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	82301	55164656	125750604	2262	68876											
IL31RA	133396	broad.mit.edu	37	chr5	55212583	55212583	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgacaagttggtggtgaacTttgggaatgttctgcaagaa	13	4	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:55212583T>G	uc003jql.2	+	15	1995	c.1930T>G	c.(1930-1932)TTT>GTT	p.F644V	IL31RA_uc003jqm.2_Missense_Mutation_p.F612V|IL31RA_uc003jqn.2_Missense_Mutation_p.F644V|IL31RA_uc003jqo.2_Missense_Mutation_p.F502V	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	612	Cytoplasmic (Potential).				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GGTGGTGAACTTTGGGAATGT	0.458													G	55212583	T	G	55212583	3	3	104	1	0	0	0	0	1	0	0	0	7691	1609	56	5	1988	5	IL31RA	5	55212583	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	47927	55212583	125702677	2263	68877											
MAP3K1	4214	broad.mit.edu	37	chr5	56181765	56181765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctattgtcttatagggggatCggtggctcatttgctgagta	13	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:56181765C>T	uc003jqw.3	+	17	4490	c.3989C>T	c.(3988-3990)TCG>TTG	p.S1330L		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	1330	Protein kinase.				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATAGGGGGATCGGTGGCTCAT	0.343													T	56181765	C	T	56181765	3	4	104	1	0	0	0	0	1	0	0	0	9243	893	31	1	4055	1	MAP3K1	5	56181765	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	969182	56181765	124733495	2264	68878											
GPBP1	65056	broad.mit.edu	37	chr5	56526703	56526703	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attttgagaagcattctgaaAactttgcatggacagagaat	9	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:56526703A>C	uc003jrh.3	+	4	1368	c.94A>C	c.(94-96)AAC>CAC	p.N32H	GPBP1_uc010iwg.2_Missense_Mutation_p.N32H|GPBP1_uc003jri.3_5'UTR|GPBP1_uc003jrj.3_Missense_Mutation_p.N39H|GPBP1_uc003jrk.3_Missense_Mutation_p.N39H|GPBP1_uc003jrl.3_RNA	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1 isoform 1	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			large_intestine(1)|central_nervous_system(1)	2		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GCATTCTGAAAACTTTGCATG	0.343													C	56526703	A	C	56526703	3	2	104	1	0	0	0	0	1	0	0	0	6595	14	1	5	125	5	GPBP1	5	56526703	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	344938	56526703	124388557	2265	68879											
GPBP1	65056	broad.mit.edu	37	chr5	56546838	56546838	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccaagaaagggatataAaccgaaacttcgatgaaaat	7	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:56546838A>C	uc003jrh.3	+	10	2304	c.1030A>C	c.(1030-1032)AAC>CAC	p.N344H	GPBP1_uc010iwg.2_Missense_Mutation_p.N364H|GPBP1_uc003jri.3_Missense_Mutation_p.N173H|GPBP1_uc003jrj.3_Missense_Mutation_p.N336H|GPBP1_uc003jrk.3_Missense_Mutation_p.N351H|GPBP1_uc003jrl.3_RNA	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1 isoform 1	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			large_intestine(1)|central_nervous_system(1)	2		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		AAGGGATATAAACCGAAACTT	0.353													C	56546838	A	C	56546838	3	2	104	1	0	0	0	0	1	0	0	0	6595	14	1	5	1085	5	GPBP1	5	56546838	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	20135	56546838	124368422	2266	68880											
PLK2	10769	broad.mit.edu	37	chr5	57752802	57752802	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatatcttgctttgtcttTtttgccaccaaaaagagcag	6	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:57752802T>G	uc003jrn.2	-	8	1253	c.1126A>C	c.(1126-1128)AAA>CAA	p.K376Q		NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	376					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|lung(1)|skin(1)	4		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GCTTTGTCTTTTTTGCCACCA	0.328													G	57752802	T	G	57752802	3	3	104	1	0	0	0	0	1	0	0	0	12096	1850	64	5	959	5	PLK2	5	57752802	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1205964	57752802	123162458	2267	68881											
PLK2	10769	broad.mit.edu	37	chr5	57754894	57754894	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttatttgtcaaatctgtcAtctcgtaacattttgcaaag	6	7	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:57754894A>G	uc003jrn.2	-	2	423	c.296T>C	c.(295-297)ATG>ACG	p.M99T	PLK2_uc011cql.1_Missense_Mutation_p.M1T	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	99	Protein kinase.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|lung(1)|skin(1)	4		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CAAATCTGTCATCTCGTAACA	0.393													G	57754894	A	G	57754894	3	3	104	1	0	0	0	0	1	0	0	0	12096	217	8	3	1813	3	PLK2	5	57754894	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2092	57754894	123160366	2268	68882											
PDE4D	5144	broad.mit.edu	37	chr5	58287668	58287668	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatcatcataccttggcaagGacatcttcttgttcagtttt	6	9	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:58287668G>A	uc003jsa.2	-	8	1351	c.1179C>T	c.(1177-1179)GTC>GTT	p.V393V	PDE4D_uc003jrx.2_Silent_p.V257V|PDE4D_uc003jry.2_Silent_p.V91V|PDE4D_uc003jrz.2_Silent_p.V329V|PDE4D_uc003jsb.2_Silent_p.V332V|PDE4D_uc003jrt.2_Silent_p.V91V|PDE4D_uc003jru.2_Silent_p.V169V|PDE4D_uc003jrv.2_Silent_p.V263V|PDE4D_uc003jrw.2_Silent_p.V271V|PDE4D_uc003jrs.2_Silent_p.V102V	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	phosphodiesterase 4D isoform 1	393					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CCTTGGCAAGGACATCTTCTT	0.348													A	58287668	G	A	58287668	2	1	104	1	0	0	0	0	0	0	0	1	11642	1161	41	4		4	PDE4D	5	58287668	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	532774	58287668	122627592	2269	68883											
DEPDC1B	55789	broad.mit.edu	37	chr5	59901524	59901524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaatcaacctaccagtgttCgggtaccaaagccatcacac	6	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:59901524C>T	uc003jsh.2	-	8	1131	c.1058G>A	c.(1057-1059)CGA>CAA	p.R353Q	DEPDC1B_uc011cqm.1_Missense_Mutation_p.R353Q|DEPDC1B_uc011cqn.1_Missense_Mutation_p.R326Q	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	353	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TACCAGTGTTCGGGTACCAAA	0.418													T	59901524	C	T	59901524	3	4	104	1	0	0	0	0	1	0	0	0	4440	884	31	1	547	1	DEPDC1B	5	59901524	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1613856	59901524	121013736	2270	68884											
DEPDC1B	55789	broad.mit.edu	37	chr5	59941376	59941376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcctctgtcagctgtctgCggtggacaagacggcaagct	14	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:59941376C>T	uc003jsh.2	-	4	594	c.521G>A	c.(520-522)CGC>CAC	p.R174H	DEPDC1B_uc011cqm.1_Missense_Mutation_p.R174H|DEPDC1B_uc011cqn.1_Missense_Mutation_p.R147H	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	174					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CAGCTGTCTGCGGTGGACAAG	0.423													T	59941376	C	T	59941376	3	4	104	1	0	0	0	0	1	0	0	0	4440	768	27	1	1100	1	DEPDC1B	5	59941376	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	39852	59941376	120973884	2271	68885											
DEPDC1B	55789	broad.mit.edu	37	chr5	59982961	59982961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgcagccaatccacagcttCggccgctgtgaaacaatgct	9	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:59982961C>T	uc003jsh.2	-	2	215	c.142G>A	c.(142-144)GAA>AAA	p.E48K	DEPDC1B_uc011cqm.1_Missense_Mutation_p.E48K|DEPDC1B_uc011cqn.1_Missense_Mutation_p.E21K	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	48	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TCCACAGCTTCGGCCGCTGTG	0.507													T	59982961	C	T	59982961	3	4	104	1	0	0	0	0	1	0	0	0	4440	893	31	1	1487	1	DEPDC1B	5	59982961	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	41585	59982961	120932299	2272	68886											
ELOVL7	79993	broad.mit.edu	37	chr5	60067919	60067919	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccaatcttcaactcttggAtctaagagaaaaacaatatg	6	8	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:60067919A>G	uc003jsi.3	-	4	266	c.66T>C	c.(64-66)GAT>GAC	p.D22D	ELOVL7_uc011cqo.1_5'UTR|ELOVL7_uc010iwk.2_Silent_p.D22D|ELOVL7_uc003jsj.3_Silent_p.Y9Y	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	elongation of very long chain fatty acids-like	22					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				CAACTCTTGGATCTAAGAGAA	0.433													G	60067919	A	G	60067919	2	3	104	1	0	0	0	0	0	0	0	1	5079	347	12	3		3	ELOVL7	5	60067919	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	84958	60067919	120847341	2273	68887											
KIF2A	3796	broad.mit.edu	37	chr5	61643984	61643984	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctcagccaaagtaaacaAaattgtaaaggttagtgatg	8	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:61643984A>C	uc003jsy.3	+	3	580	c.269A>C	c.(268-270)AAA>ACA	p.K90T	KIF2A_uc003jsz.3_Missense_Mutation_p.K90T|KIF2A_uc010iwp.2_Missense_Mutation_p.K90T|KIF2A_uc003jsx.3_Missense_Mutation_p.K70T|KIF2A_uc010iwq.2_5'UTR	NM_004520	NP_004511	O00139	KIF2A_HUMAN	kinesin heavy chain member 2 isoform 1	90	Globular (Potential).				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding				0		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		AAAGTAAACAAAATTGTAAAG	0.438													C	61643984	A	C	61643984	3	2	104	1	0	0	0	0	1	0	0	0	8297	14	1	5	279	5	KIF2A	5	61643984	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1576065	61643984	119271276	2274	68888											
KIF2A	3796	broad.mit.edu	37	chr5	61669521	61669521	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tatgtatttatagggtcaaaGaattgactgtagatccaact	8	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:61669521G>T	uc003jsy.3	+	17	1965	c.1654G>T	c.(1654-1656)GAA>TAA	p.E552*	KIF2A_uc003jsz.3_Nonsense_Mutation_p.E590*|KIF2A_uc010iwp.2_Nonsense_Mutation_p.E533*|KIF2A_uc003jsx.3_Nonsense_Mutation_p.E532*|KIF2A_uc010iwq.2_Nonsense_Mutation_p.E355*	NM_004520	NP_004511	O00139	KIF2A_HUMAN	kinesin heavy chain member 2 isoform 1	552	Kinesin-motor.				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding				0		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TAGGGTCAAAGAATTGACTGT	0.408													T	61669521	G	T	61669521	4	4	104	1	0	0	0	0	0	1	0	0	8297	943	33	5	1838	5	KIF2A	5	61669521	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	25537	61669521	119245739	2275	68889											
RNF180	285671	broad.mit.edu	37	chr5	63509662	63509662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggcttttaaacatggcccGaaataataatgaccctggaa	8	9	0	1	rs139361682	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:63509662G>A	uc003jti.2	+	4	619	c.509G>A	c.(508-510)CGA>CAA	p.R170Q	RNF180_uc003jth.3_Missense_Mutation_p.R170Q|RNF180_uc010iws.2_Intron	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN	ring finger protein 180 isoform 1	170	Cytoplasmic (Potential).					integral to membrane|nuclear envelope	zinc ion binding				0		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		AACATGGCCCGAAATAATAAT	0.443													A	63509662	G	A	63509662	3	1	104	1	0	0	0	0	1	0	0	0	13464	1058	37	1	519	1	RNF180	5	63509662	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1840141	63509662	117405598	2276	68890											
ADAMTS6	11174	broad.mit.edu	37	chr5	64520865	64520865	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatcccaaaatattatcacAgcctacgtgctgaaaacaga	6	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:64520865A>C	uc003jtp.2	-	17	2891	c.2077T>G	c.(2077-2079)TGT>GGT	p.C693G	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.C314G	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	693					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		ATATTATCACAGCCTACGTGC	0.383													C	64520865	A	C	64520865	3	2	104	1	0	0	0	0	1	0	0	0	270	188	7	5	1312	5	ADAMTS6	5	64520865	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1011203	64520865	116394395	2277	68891											
TRIM23	373	broad.mit.edu	37	chr5	64892294	64892294	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaatggtcttaatttgtgTtttccacctacatcccaaat	4	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:64892294T>G	uc003jty.2	-	9	1460	c.1374A>C	c.(1372-1374)AAA>AAC	p.K458N	TRIM23_uc003jtw.2_Missense_Mutation_p.K458N|TRIM23_uc003jtx.2_Missense_Mutation_p.K458N	NM_001656	NP_001647	P36406	TRI23_HUMAN	ADP-ribosylation factor domain protein 1 isoform	458	GTP (By similarity).|ARF-like.			K->I: Suppresses GTPase activity. Decreases interaction with PSCD1.	interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TTAATTTGTGTTTTCCACCTA	0.264													G	64892294	T	G	64892294	3	3	104	1	0	0	0	0	1	0	0	0	16494	1722	60	5	429	5	TRIM23	5	64892294	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	371429	64892294	116022966	2278	68892											
SGTB	54557	broad.mit.edu	37	chr5	64976553	64976553	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tataggaatcattttcagggTcaagatctaatgccttttga	8	6	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:64976553T>G	uc003jud.2	-	7	768	c.548A>C	c.(547-549)GAC>GCC	p.D183A		NM_019072	NP_061945	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat	183	TPR 4.						binding				0		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		ATTTTCAGGGTCAAGATCTAA	0.358													G	64976553	T	G	64976553	3	3	104	1	0	0	0	0	1	0	0	0	14226	1667	58	5	386	5	SGTB	5	64976553	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	84259	64976553	115938707	2279	68893											
MAST4	375449	broad.mit.edu	37	chr5	66438048	66438048	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaactggaatctgaggatgAcacaagttattttgatagta	9	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:66438048A>G	uc003jut.1	+	19	2101	c.2033A>G	c.(2032-2034)GAC>GGC	p.D678G	MAST4_uc003juu.1_Missense_Mutation_p.D688G|MAST4_uc011cra.1_Missense_Mutation_p.D661G|MAST4_uc003juv.2_Missense_Mutation_p.D673G|MAST4_uc003juw.2_Missense_Mutation_p.D673G	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	870	AGC-kinase C-terminal.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCTGAGGATGACACAAGTTAT	0.358													G	66438048	A	G	66438048	3	3	104	1	0	0	0	0	1	0	0	0	9327	275	10	3	2808	3	MAST4	5	66438048	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1461495	66438048	114477212	2280	68894											
MAST4	375449	broad.mit.edu	37	chr5	66461024	66461024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtgctttccagaaactgCgaaaaccagtgacaactcca	7	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:66461024C>T	uc003jut.1	+	28	5518	c.5450C>T	c.(5449-5451)GCG>GTG	p.A1817V	MAST4_uc003juw.2_Missense_Mutation_p.A1745V|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	2009						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCAGAAACTGCGAAAACCAGT	0.562													T	66461024	C	T	66461024	3	4	104	1	0	0	0	0	1	0	0	0	9327	768	27	1	6261	1	MAST4	5	66461024	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	22976	66461024	114454236	2281	68895											
CCNB1	891	broad.mit.edu	37	chr5	68470866	68470866	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gacagatggaaatgaagattCtaagagctttaaactttggt	10	4	1	4	rs1622483		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:68470866C>G	uc003jvm.2	+	6	1045	c.868C>G	c.(868-870)CTA>GTA	p.L290V	CCNB1_uc011crd.1_Missense_Mutation_p.L290V|CCNB1_uc010ixb.2_Missense_Mutation_p.L290V	NM_031966	NP_114172	P14635	CCNB1_HUMAN	cyclin B1	290					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole					0		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		AATGAAGATTCTAAGAGCTTT	0.418													G	68470866	C	G	68470866	3	3	104	1	0	0	0	0	1	0	0	0	2911	912	32	5	890	5	CCNB1	5	68470866	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2009842	68470866	112444394	2282	68896											
CCNB1	891	broad.mit.edu	37	chr5	68470918	68470918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacctttgcacttccttcGgagagcatctaagattggag	9	10	2	2	rs138386021		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:68470918G>A	uc003jvm.2	+	6	1097	c.920G>A	c.(919-921)CGG>CAG	p.R307Q	CCNB1_uc011crd.1_Missense_Mutation_p.R307Q|CCNB1_uc010ixb.2_Missense_Mutation_p.R307Q	NM_031966	NP_114172	P14635	CCNB1_HUMAN	cyclin B1	307					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole					0		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CACTTCCTTCGGAGAGCATCT	0.448													A	68470918	G	A	68470918	3	1	104	1	0	0	0	0	1	0	0	0	2911	1116	39	1	942	1	CCNB1	5	68470918	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	52	68470918	112444342	2283	68897											
RAD17	5884	broad.mit.edu	37	chr5	68681898	68681898	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taaccagttttatcgggattCtcatactttacatgaagttc	6	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:68681898C>A	uc003jwo.2	+	6	769	c.707C>A	c.(706-708)TCT>TAT	p.S236Y	RAD17_uc003jwg.2_Missense_Mutation_p.S225Y|RAD17_uc003jwh.2_Missense_Mutation_p.S225Y|RAD17_uc003jwi.2_Missense_Mutation_p.S225Y|RAD17_uc003jwj.2_Missense_Mutation_p.S225Y|RAD17_uc003jwk.2_Missense_Mutation_p.S225Y|RAD17_uc003jwl.2_Missense_Mutation_p.S225Y|RAD17_uc003jwm.2_Missense_Mutation_p.S60Y|RAD17_uc003jwn.2_Missense_Mutation_p.S139Y	NM_133339	NP_579917	O75943	RAD17_HUMAN	RAD17 homolog isoform 2	236					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding				0		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TATCGGGATTCTCATACTTTA	0.244								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					A	68681898	C	A	68681898	3	1	104	1	0	0	0	0	1	0	0	0	12979	913	32	5	742	5	RAD17	5	68681898	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	210980	68681898	112233362	2284	68898											
NAIP	4671	broad.mit.edu	37	chr5	70308498	70308498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagtaaaacccagcggccGccatctcctgtggtatccat	9	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:70308498G>A	uc003kar.1	-	4	963	c.245C>T	c.(244-246)GCG>GTG	p.A82V	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.A82V|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein isoform	82	BIR 1.				anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CCCAGCGGCCGCCATCTCCTG	0.488													A	70308498	G	A	70308498	3	1	104	1	0	0	0	0	1	0	0	0	10147	1087	38	1	4022	1	NAIP	5	70308498	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1626600	70308498	110606762	2285	68899											
NAIP	4671	broad.mit.edu	37	chr5	70308571	70308571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacctttttgcttcactgcGcatttgagagttgtagcctt	8	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:70308571G>A	uc003kar.1	-	4	890	c.172C>T	c.(172-174)CGC>TGC	p.R58C	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.R58C|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein isoform	58					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GCTTCACTGCGCATTTGAGAG	0.483													A	70308571	G	A	70308571	3	1	104	1	0	0	0	0	1	0	0	0	10147	1087	38	1	4095	1	NAIP	5	70308571	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	73	70308571	110606689	2286	68900											
BDP1	55814	broad.mit.edu	37	chr5	70786822	70786822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttgtagataaatgtcagGctataaggcctgagctaaag	10	5	1	2	rs142464289	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:70786822G>A	uc003kbp.1	+	11	1767	c.1504G>A	c.(1504-1506)GCT>ACT	p.A502T	BDP1_uc003kbn.1_Missense_Mutation_p.A502T|BDP1_uc003kbo.2_Missense_Mutation_p.A502T	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	502					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TAAATGTCAGGCTATAAGGCC	0.363													A	70786822	G	A	70786822	3	1	104	1	0	0	0	0	1	0	0	0	1395	1203	42	2	1546	2	BDP1	5	70786822	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	478251	70786822	110128438	2287	68901											
BDP1	55814	broad.mit.edu	37	chr5	70791146	70791146	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acttcagatttgccttcattCgaagttggaattagagcatt	8	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:70791146C>T	uc003kbp.1	+	12	1973	c.1710C>T	c.(1708-1710)TTC>TTT	p.F570F	BDP1_uc003kbn.1_Silent_p.F570F|BDP1_uc003kbo.2_Silent_p.F570F	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	570					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGCCTTCATTCGAAGTTGGAA	0.328													T	70791146	C	T	70791146	2	4	104	1	0	0	0	0	0	0	0	1	1395	883	31	1		1	BDP1	5	70791146	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4324	70791146	110124114	2288	68902											
BDP1	55814	broad.mit.edu	37	chr5	70805836	70805836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagggagaagacaccagagGtgactgatgccactgaggaa	14	8	0	6			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:70805836G>A	uc003kbp.1	+	17	3180	c.2917G>A	c.(2917-2919)GTG>ATG	p.V973M	BDP1_uc003kbn.1_Missense_Mutation_p.V973M|BDP1_uc003kbo.2_Missense_Mutation_p.V973M	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	973	3.|9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.			V -> G (in Ref. 2; CAC21448/CAC04245).	regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GACACCAGAGGTGACTGATGC	0.458													A	70805836	G	A	70805836	3	1	104	1	0	0	0	0	1	0	0	0	1395	1261	44	4	2983	4	BDP1	5	70805836	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	14690	70805836	110109424	2289	68903											
BDP1	55814	broad.mit.edu	37	chr5	70810930	70810930	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagcaccagtccagaaaaatGactcagttgtttctgtgggg	11	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:70810930G>A	uc003kbp.1	+	20	4893	c.4630G>A	c.(4630-4632)GAC>AAC	p.D1544N	BDP1_uc003kbo.2_Missense_Mutation_p.D1544N	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1544					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CCAGAAAAATGACTCAGTTGT	0.343													A	70810930	G	A	70810930	3	1	104	1	0	0	0	0	1	0	0	0	1395	1290	45	4	4708	4	BDP1	5	70810930	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5094	70810930	110104330	2290	68904											
BDP1	55814	broad.mit.edu	37	chr5	70818628	70818628	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggaggtttcagcaagaaaaGattgtgtaggttccaaagag	13	4	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:70818628G>T	uc003kbp.1	+	24	5502	c.5239G>T	c.(5239-5241)GAT>TAT	p.D1747Y	BDP1_uc003kbo.2_Missense_Mutation_p.D1747Y|BDP1_uc003kbq.1_RNA	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1747					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGCAAGAAAAGATTGTGTAGG	0.368													T	70818628	G	T	70818628	3	4	104	1	0	0	0	0	1	0	0	0	1395	942	33	5	5333	5	BDP1	5	70818628	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	7698	70818628	110096632	2291	68905											
BDP1	55814	broad.mit.edu	37	chr5	70855831	70855831	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtctcacaagggacaagaTatttttcttacctcaggaag	9	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:70855831T>C	uc003kbp.1	+	37	7526	c.7263T>C	c.(7261-7263)GAT>GAC	p.D2421D	BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	2421					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGGGACAAGATATTTTTCTTA	0.403													C	70855831	T	C	70855831	2	2	104	1	0	0	0	0	0	0	0	1	1395	1403	49	3		3	BDP1	5	70855831	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	37203	70855831	110059429	2292	68906											
BDP1	55814	broad.mit.edu	37	chr5	70858262	70858262	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccattcaatgaaagccaggAaaaaaatcgagagtcctctg	8	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:70858262A>G	uc003kbp.1	+	38	7921	c.7658A>G	c.(7657-7659)GAA>GGA	p.E2553G	BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	2553					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAAAGCCAGGAAAAAAATCGA	0.373													G	70858262	A	G	70858262	3	3	104	1	0	0	0	0	1	0	0	0	1395	246	9	3	7808	3	BDP1	5	70858262	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2431	70858262	110056998	2293	68907											
MCCC2	64087	broad.mit.edu	37	chr5	70948577	70948577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacccttactattccagcGcaaggtgggggccagaacat	11	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:70948577G>A	uc003kbs.3	+	16	1708	c.1570G>A	c.(1570-1572)GCA>ACA	p.A524T	MCCC2_uc003kbt.3_RNA	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 2 (beta)	524	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)	1		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CTATTCCAGCGCAAGGTGGGG	0.473													A	70948577	G	A	70948577	3	1	104	1	0	0	0	0	1	0	0	0	9375	1087	38	1	1632	1	MCCC2	5	70948577	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	90315	70948577	109966683	2294	68908											
MAP1B	4131	broad.mit.edu	37	chr5	71494696	71494696	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccgtgcctcagtgttattCgatacaatgcaacaccatct	6	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:71494696C>T	uc003kbw.3	+	5	5755	c.5514C>T	c.(5512-5514)TTC>TTT	p.F1838F	MAP1B_uc010iyw.1_Silent_p.F1855F|MAP1B_uc010iyx.1_Silent_p.F1712F|MAP1B_uc010iyy.1_Silent_p.F1712F	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1838						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CAGTGTTATTCGATACAATGC	0.498													T	71494696	C	T	71494696	2	4	104	1	0	0	0	0	0	0	0	1	9228	883	31	1		1	MAP1B	5	71494696	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	546119	71494696	109420564	2295	68909											
MRPS27	23107	broad.mit.edu	37	chr5	71524145	71524145	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacccactgagttcttttgTtttaggcctggaagcaaaag	9	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:71524145T>G	uc003kbz.3	-	8	678	c.642A>C	c.(640-642)AAA>AAC	p.K214N	MRPS27_uc003kca.3_Missense_Mutation_p.K158N|MRPS27_uc011cse.1_Missense_Mutation_p.K228N|MRPS27_uc010iza.2_Missense_Mutation_p.K158N|MRPS27_uc011csd.1_5'Flank|MRPS27_uc010iyz.1_RNA	NM_015084	NP_055899	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	214						mitochondrion|ribosome					0		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		AGTTCTTTTGTTTTAGGCCTG	0.403													G	71524145	T	G	71524145	3	3	104	1	0	0	0	0	1	0	0	0	9838	1722	60	5	618	5	MRPS27	5	71524145	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	29449	71524145	109391115	2296	68910											
ZNF366	167465	broad.mit.edu	37	chr5	71739902	71739902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtgtgcagagctgctggCtctggggggccaggccaggg	21	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:71739902C>T	uc003kce.1	-	5	2102	c.1916G>A	c.(1915-1917)AGC>AAC	p.S639N		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GAGCTGCTGGCTCTGGGGGGC	0.647													T	71739902	C	T	71739902	3	4	104	1	0	0	0	0	1	0	0	0	17867	797	28	2	322	2	ZNF366	5	71739902	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	215757	71739902	109175358	2297	68911											
TNPO1	3842	broad.mit.edu	37	chr5	72201159	72201159	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatttaaaaatcaagttggCgatgaaaattggaggcgttt	12	3	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:72201159C>T	uc003kck.3	+	24	2766	c.2619C>T	c.(2617-2619)GGC>GGT	p.G873G	TNPO1_uc011csj.1_Silent_p.G823G|TNPO1_uc003kch.2_Silent_p.G865G|TNPO1_uc003kci.3_Silent_p.G865G|TNPO1_uc003kcg.3_Silent_p.G865G	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	873					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ATCAAGTTGGCGATGAAAATT	0.353													T	72201159	C	T	72201159	2	4	104	1	0	0	0	0	0	0	0	1	16332	755	27	1		1	TNPO1	5	72201159	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	461257	72201159	108714101	2298	68912											
FCHO2	115548	broad.mit.edu	37	chr5	72285288	72285288	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcatactccaggtcaatgAcaaaactagcaaaatctgca	7	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:72285288A>C	uc003kcl.2	+	3	276	c.160A>C	c.(160-162)ACA>CCA	p.T54P	FCHO2_uc011csl.1_Missense_Mutation_p.T54P|FCHO2_uc011csk.1_Missense_Mutation_p.T54P|FCHO2_uc011csm.1_5'Flank	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2 isoform a	54	FCH.									ovary(1)	1		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		CAGGTCAATGACAAAACTAGC	0.338													C	72285288	A	C	72285288	3	2	104	1	0	0	0	0	1	0	0	0	5788	275	10	5	170	5	FCHO2	5	72285288	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	84129	72285288	108629972	2299	68913											
BTF3	689	broad.mit.edu	37	chr5	72798357	72798357	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggttcatagaacagccacAgcagatgacaaaaaacttca	8	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:72798357A>G	uc003kcr.1	+	3	489	c.246A>G	c.(244-246)ACA>ACG	p.T82T	BTF3_uc003kcq.1_Silent_p.T38T|BTF3_uc003kcs.1_RNA|BTF3_uc003kct.1_RNA	NM_001037637	NP_001032726	P20290	BTF3_HUMAN	basic transcription factor 3 isoform A	82	NAC-A/B.			Missing (in Ref. 2; AAA58398).	regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding				0		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		GAACAGCCACAGCAGATGACA	0.368													G	72798357	A	G	72798357	2	3	104	1	0	0	0	0	0	0	0	1	1551	175	7	3		3	BTF3	5	72798357	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	513069	72798357	108116903	2300	68914											
RGNEF	64283	broad.mit.edu	37	chr5	73153952	73153952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agataaagagaagctgaatcGacatcagtttgccccaggaa	10	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:73153952G>A	uc011csq.1	+	15	1966	c.1955G>A	c.(1954-1956)CGA>CAA	p.R652Q	RGNEF_uc003kcx.2_Missense_Mutation_p.R652Q|RGNEF_uc010izf.2_Missense_Mutation_p.R652Q|RGNEF_uc011csr.1_Missense_Mutation_p.R339Q	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Rho-guanine nucleotide exchange factor	652	Phorbol-ester/DAG-type.				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding				0		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		AAGCTGAATCGACATCAGTTT	0.448													A	73153952	G	A	73153952	3	1	104	1	0	0	0	0	1	0	0	0	13283	1058	37	1	2013	1	RGNEF	5	73153952	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	355595	73153952	107761308	2301	68915											
RGNEF	64283	broad.mit.edu	37	chr5	73207201	73207201	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacactttcaacaaactgaaTccatcagttatccatcagga	4	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:73207201T>G	uc011csq.1	+	34	4760	c.4749T>G	c.(4747-4749)AAT>AAG	p.N1583K	RGNEF_uc003kcx.2_Missense_Mutation_p.N1583K|RGNEF_uc010izf.2_Missense_Mutation_p.N1583K|RGNEF_uc011csr.1_Missense_Mutation_p.N1270K|RGNEF_uc003kcz.3_Missense_Mutation_p.N547K|RGNEF_uc003kda.3_Missense_Mutation_p.N503K	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Rho-guanine nucleotide exchange factor	1583	Interaction with microtubules (By similarity).				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding				0		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		ACAAACTGAATCCATCAGTTA	0.378													G	73207201	T	G	73207201	3	3	104	1	0	0	0	0	1	0	0	0	13283	1432	50	5	4883	5	RGNEF	5	73207201	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	53249	73207201	107708059	2302	68916											
GFM2	84340	broad.mit.edu	37	chr5	74047274	74047274	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatagtaatgcctctttctcGctcttgggccatgaaatctg	8	10	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:74047274G>A	uc003kdh.1	-	6	653	c.349C>T	c.(349-351)CGA>TGA	p.R117*	GFM2_uc003kdi.1_Nonsense_Mutation_p.R117*|GFM2_uc010izj.1_Nonsense_Mutation_p.R149*|GFM2_uc010izk.1_RNA|GFM2_uc003kdj.1_Nonsense_Mutation_p.R117*|GFM2_uc010izl.1_Intron	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	mitochondrial elongation factor G2 isoform 1	117					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity				0		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CCTCTTTCTCGCTCTTGGGCC	0.378													A	74047274	G	A	74047274	4	1	104	1	0	0	0	0	0	1	0	0	6342	1095	38	1	2086	1	GFM2	5	74047274	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	840073	74047274	106867986	2303	68917											
NSA2	10412	broad.mit.edu	37	chr5	74066522	74066522	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaagtattaaaagttattCgaacaggaaagagaaagaag	10	3	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:74066522C>T	uc003kdk.1	+	4	492	c.409C>T	c.(409-411)CGA>TGA	p.R137*		NM_014886	NP_055701	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog	137	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex				ovary(1)	1						AAAAGTTATTCGAACAGGAAA	0.368													T	74066522	C	T	74066522	4	4	104	1	0	0	0	0	0	1	0	0	10668	876	31	1	423	1	NSA2	5	74066522	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	19248	74066522	106848738	2304	68918											
GCNT4	51301	broad.mit.edu	37	chr5	74324701	74324701	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccataaatacacacgcttcGaaggtgagatccagtacaac	7	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:74324701G>A	uc003kdn.2	-	1	2024	c.1162C>T	c.(1162-1164)CGA>TGA	p.R388*		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	core 2 beta-1,6-N-acetylglucosaminyltransferase	388	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CACACGCTTCGAAGGTGAGAT	0.418													A	74324701	G	A	74324701	4	1	104	1	0	0	0	0	0	1	0	0	6303	1066	37	1	203	1	GCNT4	5	74324701	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	258179	74324701	106590559	2305	68919											
HMGCR	3156	broad.mit.edu	37	chr5	74645970	74645970	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtgtgtccttggtattAgaggtaagaccaattcttac	10	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:74645970A>C	uc003kdp.2	+	7	816	c.660A>C	c.(658-660)TTA>TTC	p.L220F	HMGCR_uc011cst.1_Missense_Mutation_p.L240F|HMGCR_uc003kdq.2_Missense_Mutation_p.L220F|HMGCR_uc010izn.1_Missense_Mutation_p.L60F	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	220	Helical; (Potential).				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CCTTGGTATTAGAGGTAAGAC	0.398													C	74645970	A	C	74645970	3	2	104	1	0	0	0	0	1	0	0	0	7231	417	15	5	682	5	HMGCR	5	74645970	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	321269	74645970	106269290	2306	68920											
POLK	51426	broad.mit.edu	37	chr5	74869615	74869615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttcgtgcagccatgccagGatttattgctaagaggctgt	12	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:74869615G>A	uc003kdw.2	+	5	557	c.461G>A	c.(460-462)GGA>GAA	p.G154E	POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003kea.2_Missense_Mutation_p.G154E|POLK_uc003keb.2_Missense_Mutation_p.G154E|POLK_uc010izq.2_Missense_Mutation_p.G154E|POLK_uc003kec.2_Missense_Mutation_p.G64E|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Missense_Mutation_p.G64E|POLK_uc003kee.2_Missense_Mutation_p.G154E|POLK_uc003kef.2_Missense_Mutation_p.G64E	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	154	UmuC.				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GCCATGCCAGGATTTATTGCT	0.413								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	74869615	G	A	74869615	3	1	104	1	0	0	0	0	1	0	0	0	12204	1174	41	4	475	4	POLK	5	74869615	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	223645	74869615	106045645	2307	68921											
POLK	51426	broad.mit.edu	37	chr5	74892287	74892287	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaatgtgaagccgtgaataAacaaagtttccagacatcac	7	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:74892287A>G	uc003kdw.2	+	13	1865	c.1769A>G	c.(1768-1770)AAA>AGA	p.K590R	POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Missense_Mutation_p.K392R|POLK_uc003kec.2_Missense_Mutation_p.K500R|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Missense_Mutation_p.K500R	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	590					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GCCGTGAATAAACAAAGTTTC	0.333								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					G	74892287	A	G	74892287	3	3	104	1	0	0	0	0	1	0	0	0	12204	14	1	3	1815	3	POLK	5	74892287	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	22672	74892287	106022973	2308	68922											
SV2C	22987	broad.mit.edu	37	chr5	75427987	75427987	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaagagttagcccagcagTatgagctgataatccaagaa	11	7	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:75427987T>C	uc003kei.1	+	2	546	c.412T>C	c.(412-414)TAT>CAT	p.Y138H		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	138	Cytoplasmic (Potential).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		AGCCCAGCAGTATGAGCTGAT	0.547													C	75427987	T	C	75427987	3	2	104	1	0	0	0	0	1	0	0	0	15416	1638	57	3	414	3	SV2C	5	75427987	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	535700	75427987	105487273	2309	68923											
F2RL2	2151	broad.mit.edu	37	chr5	75913486	75913486	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggatctaagcaactattaAgactacccaggcacaaagct	7	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:75913486A>C	uc003kem.2	-	2	1231	c.1046T>G	c.(1045-1047)CTT>CGT	p.L349R	IQGAP2_uc003kek.2_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron|F2RL2_uc011csw.1_Missense_Mutation_p.L327R	NM_004101	NP_004092	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	349	Helical; Name=7; (Potential).				platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			skin(2)|ovary(1)	3		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		GCAACTATTAAGACTACCCAG	0.328													C	75913486	A	C	75913486	3	2	104	1	0	0	0	0	1	0	0	0	5345	72	3	5	82	5	F2RL2	5	75913486	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	485499	75913486	105001774	2310	68924											
IQGAP2	10788	broad.mit.edu	37	chr5	75927780	75927780	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccacttctaatgcaaatgAcataatcccggagtgtgctg	8	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:75927780A>G	uc003kek.2	+	15	1931	c.1709A>G	c.(1708-1710)GAC>GGC	p.D570G	IQGAP2_uc010izv.2_Missense_Mutation_p.D123G|IQGAP2_uc011csv.1_Missense_Mutation_p.D123G|IQGAP2_uc003kel.2_Missense_Mutation_p.D123G	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	570					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)		AATGCAAATGACATAATCCCG	0.388													G	75927780	A	G	75927780	3	3	104	1	0	0	0	0	1	0	0	0	7815	275	10	3	1767	3	IQGAP2	5	75927780	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	14294	75927780	104987480	2311	68925											
F2RL1	2150	broad.mit.edu	37	chr5	76129240	76129240	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgatgatcagaatgctgCgatcttctgccatggatgaa	11	8	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:76129240C>T	uc003keo.2	+	2	983	c.808C>T	c.(808-810)CGA>TGA	p.R270*		NM_005242	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	270	Cytoplasmic (Potential).				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			central_nervous_system(1)	1		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CAGAATGCTGCGATCTTCTGC	0.493													T	76129240	C	T	76129240	4	4	104	1	0	0	0	0	0	1	0	0	5344	760	27	1	814	1	F2RL1	5	76129240	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	201460	76129240	104786020	2312	68926											
AGGF1	55109	broad.mit.edu	37	chr5	76344002	76344002	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagatgaagacaaaatttgGcccccatgtattagagtaat	9	7	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:76344002G>A	uc003ket.2	+	7	1578	c.1218G>A	c.(1216-1218)TGG>TGA	p.W406*		NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	angiogenic factor VG5Q	406					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ACAAAATTTGGCCCCCATGTA	0.353													A	76344002	G	A	76344002	4	1	104	1	0	0	0	0	0	1	0	0	382	1212	42	2	1244	2	AGGF1	5	76344002	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	214762	76344002	104571258	2313	68927											
AP3B1	8546	broad.mit.edu	37	chr5	77409712	77409712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctccttcctccccactttCgccttgttctccactttcac	3	19	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:77409712C>T	uc003kfj.2	-	19	2238	c.2113G>A	c.(2113-2115)GAA>AAA	p.E705K		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	705	Glu/Ser-rich.				endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TCCCCACTTTCGCCTTGTTCT	0.463									Hermansky-Pudlak_syndrome				T	77409712	C	T	77409712	3	4	104	1	0	0	0	0	1	0	0	0	744	893	31	1	1207	1	AP3B1	5	77409712	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1065710	77409712	103505548	2314	68928											
AP3B1	8546	broad.mit.edu	37	chr5	77423858	77423858	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaaggtcaacttaccaacTctattacttctacatttcga	4	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:77423858T>G	uc003kfj.2	-	17	2089	c.1964A>C	c.(1963-1965)GAG>GCG	p.E655A		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	655					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ACTTACCAACTCTATTACTTC	0.373									Hermansky-Pudlak_syndrome				G	77423858	T	G	77423858	3	3	104	1	0	0	0	0	1	0	0	0	744	1551	54	5	1364	5	AP3B1	5	77423858	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	14146	77423858	103491402	2315	68929											
SCAMP1	9522	broad.mit.edu	37	chr5	77717663	77717663	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctaaatatcttcggatgcTtggcttggttttgtgttgat	10	5	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:77717663T>C	uc003kfl.2	+	6	668	c.511T>C	c.(511-513)TTG>CTG	p.L171L	SCAMP1_uc010jaa.2_Intron|SCAMP1_uc011ctc.1_RNA|SCAMP1_uc011ctd.1_RNA|SCAMP1_uc003kfm.2_RNA	NM_004866	NP_004857	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1	171	Helical; (Potential).				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding				0		all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		CTTCGGATGCTTGGCTTGGTT	0.358													C	77717663	T	C	77717663	2	2	104	1	0	0	0	0	0	0	0	1	13870	1606	56	3		3	SCAMP1	5	77717663	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	293805	77717663	103197597	2316	68930											
JMY	133746	broad.mit.edu	37	chr5	78608246	78608246	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagagaaaaattacatgaTgaagaagaaagaaaaagtgc	10	2	0	7			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:78608246T>C	uc003kfx.3	+	8	2509	c.1989T>C	c.(1987-1989)GAT>GAC	p.D663D	JMY_uc003kfw.1_Silent_p.D309D	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	junction-mediating and regulatory protein	663					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity				0		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		AATTACATGATGAAGAAGAAA	0.313													C	78608246	T	C	78608246	2	2	104	1	0	0	0	0	0	0	0	1	7957	1461	51	3		3	JMY	5	78608246	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	890583	78608246	102307014	2317	68931											
JMY	133746	broad.mit.edu	37	chr5	78608266	78608266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagaagaaagaaaaagtgCctgggttagccaagagagac	13	5	0	6			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:78608266C>T	uc003kfx.3	+	8	2529	c.2009C>T	c.(2008-2010)GCC>GTC	p.A670V	JMY_uc003kfw.1_Missense_Mutation_p.A316V	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	junction-mediating and regulatory protein	670					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity				0		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		AGAAAAAGTGCCTGGGTTAGC	0.294													T	78608266	C	T	78608266	3	4	104	1	0	0	0	0	1	0	0	0	7957	739	26	2	2039	2	JMY	5	78608266	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	20	78608266	102306994	2318	68932											
HOMER1	9456	broad.mit.edu	37	chr5	78734856	78734856	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtgaaaatggcaatgcattCtgagttggttcagcccttgg	12	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:78734856C>T	uc003kfy.2	-	5	1607	c.504G>A	c.(502-504)CAG>CAA	p.Q168Q	HOMER1_uc010jab.2_Silent_p.Q168Q|HOMER1_uc010jac.2_Intron|HOMER1_uc010jad.2_Intron	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	homer 1	168					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane					0		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		GCAATGCATTCTGAGTTGGTT	0.393													T	78734856	C	T	78734856	2	4	104	1	0	0	0	0	0	0	0	1	7278	912	32	4		4	HOMER1	5	78734856	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	126590	78734856	102180404	2319	68933											
PAPD4	167153	broad.mit.edu	37	chr5	78975427	78975427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atagtcaaatgatttcagttCgtgaagccaaagccattcca	7	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:78975427C>T	uc010jae.1	+	14	1652	c.1234C>T	c.(1234-1236)CGT>TGT	p.R412C	PAPD4_uc003kgb.2_Missense_Mutation_p.R412C|PAPD4_uc010jaf.1_Missense_Mutation_p.R412C|PAPD4_uc003kga.2_Missense_Mutation_p.R408C|PAPD4_uc003kfz.2_Missense_Mutation_p.R369C	NM_001114393	NP_001107865	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	412	PAP-associated.				histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			ovary(1)	1		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GATTTCAGTTCGTGAAGCCAA	0.313													T	78975427	C	T	78975427	3	4	104	1	0	0	0	0	1	0	0	0	11424	884	31	1	1280	1	PAPD4	5	78975427	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	240571	78975427	101939833	2320	68934											
CMYA5	202333	broad.mit.edu	37	chr5	79026867	79026867	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctcaccatccacaaccgAaaagacttctgaatgccagt	5	14	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:79026867A>C	uc003kgc.2	+	2	2351	c.2279A>C	c.(2278-2280)GAA>GCA	p.E760A		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	760						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCCACAACCGAAAAGACTTCT	0.512													C	79026867	A	C	79026867	3	2	104	1	0	0	0	0	1	0	0	0	3590	246	9	5	2285	5	CMYA5	5	79026867	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	51440	79026867	101888393	2321	68935											
CMYA5	202333	broad.mit.edu	37	chr5	79028077	79028077	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatctatagtaaaggaagaAaccaaacctgcatctccaca	5	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:79028077A>C	uc003kgc.2	+	2	3561	c.3489A>C	c.(3487-3489)GAA>GAC	p.E1163D		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1163						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TAAAGGAAGAAACCAAACCTG	0.443													C	79028077	A	C	79028077	3	2	104	1	0	0	0	0	1	0	0	0	3590	11	1	5	3495	5	CMYA5	5	79028077	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1210	79028077	101887183	2322	68936											
CMYA5	202333	broad.mit.edu	37	chr5	79028508	79028508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatggagatgaaacatgattCcaaaataacaactacaccta	5	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:79028508C>T	uc003kgc.2	+	2	3992	c.3920C>T	c.(3919-3921)TCC>TTC	p.S1307F		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1307						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAACATGATTCCAAAATAACA	0.393													T	79028508	C	T	79028508	3	4	104	1	0	0	0	0	1	0	0	0	3590	855	30	4	3926	4	CMYA5	5	79028508	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	431	79028508	101886752	2323	68937											
CMYA5	202333	broad.mit.edu	37	chr5	79028992	79028992	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagtagaagccaaagaagtTaaagctgggttgccagtaat	12	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:79028992T>G	uc003kgc.2	+	2	4476	c.4404T>G	c.(4402-4404)GTT>GTG	p.V1468V		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1468						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCAAAGAAGTTAAAGCTGGGT	0.378													G	79028992	T	G	79028992	2	3	104	1	0	0	0	0	0	0	0	1	3590	1741	61	5		5	CMYA5	5	79028992	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	484	79028992	101886268	2324	68938											
CMYA5	202333	broad.mit.edu	37	chr5	79031392	79031392	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttaaagaaaaatccatgatTttatcaaatgtagaagattt	6	3	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:79031392T>G	uc003kgc.2	+	2	6876	c.6804T>G	c.(6802-6804)ATT>ATG	p.I2268M		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2268						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATCCATGATTTTATCAAATG	0.338													G	79031392	T	G	79031392	3	3	104	1	0	0	0	0	1	0	0	0	3590	1829	64	5	6810	5	CMYA5	5	79031392	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2400	79031392	101883868	2325	68939											
CMYA5	202333	broad.mit.edu	37	chr5	79031470	79031470	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gattatggaaaaaaagaaatCtcaggcgattcagaggaaat	10	4	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:79031470C>T	uc003kgc.2	+	2	6954	c.6882C>T	c.(6880-6882)ATC>ATT	p.I2294I		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2294						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAAAGAAATCTCAGGCGATT	0.338													T	79031470	C	T	79031470	2	4	104	1	0	0	0	0	0	0	0	1	3590	903	32	4		4	CMYA5	5	79031470	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	78	79031470	101883790	2326	68940											
CMYA5	202333	broad.mit.edu	37	chr5	79032569	79032569	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggaaatctagtattagaaAagtcaagcagagatatgcca	9	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:79032569A>C	uc003kgc.2	+	2	8053	c.7981A>C	c.(7981-7983)AAG>CAG	p.K2661Q		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2661						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGTATTAGAAAAGTCAAGCAG	0.408													C	79032569	A	C	79032569	3	2	104	1	0	0	0	0	1	0	0	0	3590	15	1	5	7987	5	CMYA5	5	79032569	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1099	79032569	101882691	2327	68941											
THBS4	7060	broad.mit.edu	37	chr5	79378945	79378945	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagtttcaaacccagaattTcgaccgcttcgataattaaa	6	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:79378945T>G	uc003kgh.2	+	23	3190	c.2867T>G	c.(2866-2868)TTC>TGC	p.F956C	uc003kgi.3_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	956					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACCCAGAATTTCGACCGCTTC	0.443											OREG0016685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	79378945	T	G	79378945	3	3	104	1	0	0	0	0	1	0	0	0	15853	1783	62	5	2953	5	THBS4	5	79378945	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	346376	79378945	101536315	2328	68942											
ZFYVE16	9765	broad.mit.edu	37	chr5	79732754	79732754	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagttccctgaatgaaaaaAcactcaagggacttacttct	7	9	2	3	rs145932207		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:79732754A>G	uc003kgr.3	+	4	552	c.250A>G	c.(250-252)ACA>GCA	p.T84A	ZFYVE16_uc010jak.1_Missense_Mutation_p.T84A|ZFYVE16_uc003kgp.2_Missense_Mutation_p.T84A|ZFYVE16_uc003kgq.3_Missense_Mutation_p.T84A|ZFYVE16_uc003kgs.3_Missense_Mutation_p.T84A	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	84					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity				0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		GAATGAAAAAACACTCAAGGG	0.393													G	79732754	A	G	79732754	3	3	104	1	0	0	0	0	1	0	0	0	17661	43	2	3	256	3	ZFYVE16	5	79732754	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	353809	79732754	101182506	2329	68943											
ZFYVE16	9765	broad.mit.edu	37	chr5	79733028	79733028	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcagatactccctgtgTttcttcaacagaccatgata	7	10	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:79733028T>C	uc003kgr.3	+	4	826	c.524T>C	c.(523-525)GTT>GCT	p.V175A	ZFYVE16_uc010jak.1_Missense_Mutation_p.V175A|ZFYVE16_uc003kgp.2_Missense_Mutation_p.V175A|ZFYVE16_uc003kgq.3_Missense_Mutation_p.V175A|ZFYVE16_uc003kgs.3_Missense_Mutation_p.V175A	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	175					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity				0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		ACTCCCTGTGTTTCTTCAACA	0.338													C	79733028	T	C	79733028	3	2	104	1	0	0	0	0	1	0	0	0	17661	1725	60	3	530	3	ZFYVE16	5	79733028	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	274	79733028	101182232	2330	68944											
ZFYVE16	9765	broad.mit.edu	37	chr5	79746389	79746389	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agactatttatcaccatataTaaggatgctctaaaaggtat	6	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:79746389T>C	uc003kgr.3	+	10	3668	c.3366T>C	c.(3364-3366)TAT>TAC	p.Y1122Y	ZFYVE16_uc003kgp.2_Silent_p.Y1122Y|ZFYVE16_uc003kgq.3_Silent_p.Y1122Y|ZFYVE16_uc003kgs.3_Silent_p.Y1122Y|ZFYVE16_uc003kgt.3_Silent_p.Y210Y	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1122					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity				0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TCACCATATATAAGGATGCTC	0.348													C	79746389	T	C	79746389	2	2	104	1	0	0	0	0	0	0	0	1	17661	1413	49	3		3	ZFYVE16	5	79746389	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	13361	79746389	101168871	2331	68945											
ZFYVE16	9765	broad.mit.edu	37	chr5	79752310	79752310	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attaccagtataccttgcatAatatagatcaactgttgatt	5	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:79752310A>C	uc003kgr.3	+	13	4023	c.3721A>C	c.(3721-3723)AAT>CAT	p.N1241H	ZFYVE16_uc003kgq.3_Missense_Mutation_p.N1241H|ZFYVE16_uc003kgs.3_Missense_Mutation_p.N1241H|ZFYVE16_uc003kgt.3_Missense_Mutation_p.N329H|ZFYVE16_uc003kgu.3_5'UTR	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1241					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity				0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TACCTTGCATAATATAGATCA	0.299													C	79752310	A	C	79752310	3	2	104	1	0	0	0	0	1	0	0	0	17661	362	13	5	3763	5	ZFYVE16	5	79752310	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	5921	79752310	101162950	2332	68946											
MSH3	4437	broad.mit.edu	37	chr5	80064742	80064742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaattcaaggtgttattgacGagatccgaatgcatttgcaa	9	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:80064742G>A	uc003kgz.2	+	15	2426	c.2173G>A	c.(2173-2175)GAG>AAG	p.E725K		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	725					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGTTATTGACGAGATCCGAAT	0.328								MMR					A	80064742	G	A	80064742	3	1	104	1	0	0	0	0	1	0	0	0	9871	1059	37	1	2231	1	MSH3	5	80064742	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	312432	80064742	100850518	2333	68947											
MSH3	4437	broad.mit.edu	37	chr5	80109451	80109451	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggaccaaacatgggtggaAagagctcctacataaaacaa	9	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:80109451A>C	uc003kgz.2	+	20	2957	c.2704A>C	c.(2704-2706)AAG>CAG	p.K902Q		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	902	ATP (Potential).				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CATGGGTGGAAAGAGCTCCTA	0.393								MMR					C	80109451	A	C	80109451	3	2	104	1	0	0	0	0	1	0	0	0	9871	15	1	5	2782	5	MSH3	5	80109451	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	44709	80109451	100805809	2334	68948											
RASGRF2	5924	broad.mit.edu	37	chr5	80422905	80422905	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaccaggacagacggcggAcaatgcccactgctctgttt	10	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:80422905A>G	uc003kha.1	+	17	2609	c.2609A>G	c.(2608-2610)GAC>GGC	p.D870G	RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	870					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CAGACGGCGGACAATGCCCAC	0.468													G	80422905	A	G	80422905	3	3	104	1	0	0	0	0	1	0	0	0	13073	275	10	3	2675	3	RASGRF2	5	80422905	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	313454	80422905	100492355	2335	68949											
RASGRF2	5924	broad.mit.edu	37	chr5	80497154	80497154	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattttattttacaggatttCgaactcaacaatgaactaaa	4	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:80497154C>T	uc003kha.1	+	19	2799	c.2799C>T	c.(2797-2799)TTC>TTT	p.F933F	RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	933					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TACAGGATTTCGAACTCAACA	0.368													T	80497154	C	T	80497154	2	4	104	1	0	0	0	0	0	0	0	1	13073	883	31	1		1	RASGRF2	5	80497154	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	74249	80497154	100418106	2336	68950											
CKMT2	1160	broad.mit.edu	37	chr5	80559356	80559356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacctaagactccagaagcGtggcacaggtggtgtggaca	13	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:80559356G>A	uc003khc.3	+	10	1303	c.1061G>A	c.(1060-1062)CGT>CAT	p.R354H	RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Missense_Mutation_p.R354H|CKMT2_uc003khd.3_Missense_Mutation_p.R354H|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	sarcomeric mitochondrial creatine kinase	354	Phosphagen kinase C-terminal.|ATP.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CTCCAGAAGCGTGGCACAGGT	0.453													A	80559356	G	A	80559356	3	1	104	1	0	0	0	0	1	0	0	0	3451	1145	40	1	1091	1	CKMT2	5	80559356	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	62202	80559356	100355904	2337	68951											
ACOT12	134526	broad.mit.edu	37	chr5	80639678	80639678	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatgcaaagtggaacctcttCtttgtgggaaataacatatt	8	6	2	0	rs149926544		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:80639678C>A	uc003khl.3	-	10	1058	c.1003G>T	c.(1003-1005)GAA>TAA	p.E335*	RNU5E_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	335					acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(1)|kidney(1)	2		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GGAACCTCTTCTTTGTGGGAA	0.318													A	80639678	C	A	80639678	4	1	104	1	0	0	0	0	0	1	0	0	150	922	32	5	688	5	ACOT12	5	80639678	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	80322	80639678	100275582	2338	68952											
RPS23	6228	broad.mit.edu	37	chr5	81573622	81573622	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatcatgccacttctggtcTcgtcggtgactacggagctt	10	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:81573622T>G	uc003khu.2	-	2	147	c.54A>C	c.(52-54)CGA>CGC	p.R18R	ATP6AP1L_uc003khv.2_5'Flank	NM_001025	NP_001016	P62266	RS23_HUMAN	ribosomal protein S23	18					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome				0		Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31)		ACTTCTGGTCTCGTCGGTGAC	0.448													G	81573622	T	G	81573622	2	3	104	1	0	0	0	0	0	0	0	1	13634	1538	54	5		5	RPS23	5	81573622	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	933944	81573622	99341638	2339	68953											
VCAN	1462	broad.mit.edu	37	chr5	82815188	82815188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctaaagaggctacaaccatcGatttgagtatcctcgcagaa	8	10	0	3	rs143128206	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:82815188G>A	uc003kii.3	+	7	1419	c.1063G>A	c.(1063-1065)GAT>AAT	p.D355N	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.D355N|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	355	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TACAACCATCGATTTGAGTAT	0.368													A	82815188	G	A	82815188	3	1	104	1	0	0	0	0	1	0	0	0	17135	1058	37	1	1085	1	VCAN	5	82815188	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1241566	82815188	98100072	2340	68954											
VCAN	1462	broad.mit.edu	37	chr5	82833723	82833723	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtagagctctcagggagttCttcgattccaattacagaag	10	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:82833723C>A	uc003kii.3	+	8	5257	c.4901C>A	c.(4900-4902)TCT>TAT	p.S1634Y	VCAN_uc003kij.3_Missense_Mutation_p.S647Y|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.S298Y	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1634	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCAGGGAGTTCTTCGATTCCA	0.418													A	82833723	C	A	82833723	3	1	104	1	0	0	0	0	1	0	0	0	17135	913	32	5	4927	5	VCAN	5	82833723	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	18535	82833723	98081537	2341	68955											
VCAN	1462	broad.mit.edu	37	chr5	82834640	82834640	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atttcagtggtgactttagaGaatactcaacagtgtctcat	8	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:82834640G>A	uc003kii.3	+	8	6174	c.5818G>A	c.(5818-5820)GAA>AAA	p.E1940K	VCAN_uc003kij.3_Missense_Mutation_p.E953K|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E604K	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1940	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGACTTTAGAGAATACTCAAC	0.438													A	82834640	G	A	82834640	3	1	104	1	0	0	0	0	1	0	0	0	17135	943	33	4	5844	4	VCAN	5	82834640	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	917	82834640	98080620	2342	68956											
VCAN	1462	broad.mit.edu	37	chr5	82834920	82834920	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccagtgctgtgcaaaagtTttctggtacagcttcctcca	8	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:82834920T>G	uc003kii.3	+	8	6454	c.6098T>G	c.(6097-6099)TTT>TGT	p.F2033C	VCAN_uc003kij.3_Missense_Mutation_p.F1046C|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.F697C	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2033	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GTGCAAAAGTTTTCTGGTACA	0.483													G	82834920	T	G	82834920	3	3	104	1	0	0	0	0	1	0	0	0	17135	1841	64	5	6124	5	VCAN	5	82834920	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	280	82834920	98080340	2343	68957											
RASA1	5921	broad.mit.edu	37	chr5	86686667	86686667	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaactgcttcaacaaaaacaAaaccagtatacaaaaaccaa	3	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:86686667A>C	uc003kiw.2	+	25	3229	c.3111A>C	c.(3109-3111)CAA>CAC	p.Q1037H	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.Q860H|RASA1_uc011ctv.1_Missense_Mutation_p.Q870H|RASA1_uc011ctw.1_Missense_Mutation_p.Q871H|RASA1_uc010jaw.2_Missense_Mutation_p.Q859H	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	1037					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AACAAAAACAAAACCAGTATA	0.393													C	86686667	A	C	86686667	3	2	104	1	0	0	0	0	1	0	0	0	13060	11	1	5	3221	5	RASA1	5	86686667	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	3851747	86686667	94228593	2344	68958											
TMEM161B	153396	broad.mit.edu	37	chr5	87498828	87498828	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcataatgtagtctttggTgattggttttacccagagca	10	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:87498828T>C	uc003kjc.2	-	9	990	c.865A>G	c.(865-867)ACC>GCC	p.T289A	TMEM161B_uc011cty.1_Missense_Mutation_p.T278A|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctz.1_Missense_Mutation_p.T156A|TMEM161B_uc011ctx.1_Missense_Mutation_p.T107A	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	289						integral to membrane				skin(2)	2		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		TAGTCTTTGGTGATTGGTTTT	0.353													C	87498828	T	C	87498828	3	2	104	1	0	0	0	0	1	0	0	0	16074	1696	59	3	614	3	TMEM161B	5	87498828	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	812161	87498828	93416432	2345	68959											
CETN3	1070	broad.mit.edu	37	chr5	89695264	89695264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaattctctagcaacacgtCgcaaattcctcaagcttatt	4	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:89695264C>T	uc003kjo.2	-	4	496	c.371G>A	c.(370-372)CGA>CAA	p.R124Q		NM_004365	NP_004356	O15182	CETN3_HUMAN	centrin 3	124	EF-hand 3.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding				0		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		AGCAACACGTCGCAAATTCCT	0.358													T	89695264	C	T	89695264	3	4	104	1	0	0	0	0	1	0	0	0	3276	884	31	1	140	1	CETN3	5	89695264	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2196436	89695264	91219996	2346	68960											
LYSMD3	116068	broad.mit.edu	37	chr5	89814712	89814712	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcttgttggctgaaatgtAttcctttagttggcacaatt	8	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:89814712A>G	uc003kjr.2	-	3	993	c.845T>C	c.(844-846)ATA>ACA	p.I282T	LYSMD3_uc010jaz.1_Missense_Mutation_p.Y124H|LYSMD3_uc003kjs.1_3'UTR	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain	282	Cytoplasmic (Potential).				cell wall macromolecule catabolic process	integral to membrane					0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		GCTGAAATGTATTCCTTTAGT	0.373													G	89814712	A	G	89814712	3	3	104	1	0	0	0	0	1	0	0	0	9126	449	16	3	79	3	LYSMD3	5	89814712	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	119448	89814712	91100548	2347	68961											
LYSMD3	116068	broad.mit.edu	37	chr5	89821102	89821102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgattctgatgcctccctGccataatgttaaaatctgga	7	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:89821102G>A	uc003kjr.2	-	2	153	c.5C>T	c.(4-6)GCA>GTA	p.A2V	LYSMD3_uc010jaz.1_Missense_Mutation_p.A2V|LYSMD3_uc003kjs.1_Missense_Mutation_p.A2V	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain	2	Extracellular (Potential).				cell wall macromolecule catabolic process	integral to membrane					0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		ATGCCTCCCTGCCATAATGTT	0.398													A	89821102	G	A	89821102	3	1	104	1	0	0	0	0	1	0	0	0	9126	1319	46	2	923	2	LYSMD3	5	89821102	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	6390	89821102	91094158	2348	68962											
GPR98	84059	broad.mit.edu	37	chr5	89948166	89948166	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaatttattttgtaggatTttgaggcaccgaggatactt	9	4	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:89948166T>G	uc003kju.2	+	19	3516	c.3420T>G	c.(3418-3420)ATT>ATG	p.I1140M	GPR98_uc003kjt.2_Translation_Start_Site	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1140	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTGTAGGATTTTGAGGCACC	0.353													G	89948166	T	G	89948166	3	3	104	1	0	0	0	0	1	0	0	0	6721	1829	64	5	3494	5	GPR98	5	89948166	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	127064	89948166	90967094	2349	68963											
GPR98	84059	broad.mit.edu	37	chr5	89986685	89986685	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtaaacctgccaataattCgaaattctgggacactcggc	9	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:89986685C>T	uc003kju.2	+	31	6874	c.6778C>T	c.(6778-6780)CGA>TGA	p.R2260*	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2260	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCCAATAATTCGAAATTCTGG	0.438													T	89986685	C	T	89986685	4	4	104	1	0	0	0	0	0	1	0	0	6721	876	31	1	6900	1	GPR98	5	89986685	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	38519	89986685	90928575	2350	68964											
GPR98	84059	broad.mit.edu	37	chr5	90136657	90136657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttgtctcagatgcagattCgcaggccatttgggggcttg	13	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:90136657C>T	uc003kju.2	+	78	16970	c.16874C>T	c.(16873-16875)TCG>TTG	p.S5625L	GPR98_uc003kjt.2_Missense_Mutation_p.S3331L|GPR98_uc003kjw.2_Missense_Mutation_p.S1286L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5625	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATGCAGATTCGCAGGCCATT	0.468													T	90136657	C	T	90136657	3	4	104	1	0	0	0	0	1	0	0	0	6721	893	31	1	17184	1	GPR98	5	90136657	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	149972	90136657	90778603	2351	68965											
ARRDC3	57561	broad.mit.edu	37	chr5	90669530	90669530	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaggtggaggcaagaatcGaaactcctggatatatgcaa	12	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:90669530G>A	uc003kjz.2	-	7	1399	c.1159C>T	c.(1159-1161)CGA>TGA	p.R387*		NM_020801	NP_065852	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	387					signal transduction	cytoplasm	protein binding			ovary(1)|breast(1)	2		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GGCAAGAATCGAAACTCCTGG	0.423													A	90669530	G	A	90669530	4	1	104	1	0	0	0	0	0	1	0	0	984	1066	37	1	93	1	ARRDC3	5	90669530	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	532873	90669530	90245730	2352	68966											
ARRDC3	57561	broad.mit.edu	37	chr5	90678662	90678662	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caattaagatgtctttatggTtgaaatactctacttcttca	5	7	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:90678662T>C	uc003kjz.2	-	1	488	c.248A>G	c.(247-249)AAC>AGC	p.N83S	LOC100129716_uc003kka.3_Intron	NM_020801	NP_065852	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	83					signal transduction	cytoplasm	protein binding			ovary(1)|breast(1)	2		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GTCTTTATGGTTGAAATACTC	0.388													C	90678662	T	C	90678662	3	2	104	1	0	0	0	0	1	0	0	0	984	1725	60	3	1028	3	ARRDC3	5	90678662	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	9132	90678662	90236598	2353	68967											
TTC37	9652	broad.mit.edu	37	chr5	94863782	94863782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtttaatcaaagcctctgCtttcaaatgaagacaaagat	7	7	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:94863782C>T	uc003klb.2	-	13	1339	c.1069G>A	c.(1069-1071)GCA>ACA	p.A357T	TTC37_uc010jbf.1_Missense_Mutation_p.A309T	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	357							binding			ovary(3)|pancreas(1)	4						AAAGCCTCTGCTTTCAAATGA	0.378													T	94863782	C	T	94863782	3	4	104	1	0	0	0	0	1	0	0	0	16702	797	28	2	3749	2	TTC37	5	94863782	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4185120	94863782	86051478	2354	68968											
SPATA9	83890	broad.mit.edu	37	chr5	95011265	95011265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggatatgctgtttaatccacGaattaatgttgctcgattaa	8	6	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:95011265G>A	uc003klj.1	-	3	385	c.229C>T	c.(229-231)CGT>TGT	p.R77C	SPATA9_uc010jbh.1_RNA|SPATA9_uc003klh.1_RNA|SPATA9_uc003kli.1_Intron	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	77					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane					0		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		TTTAATCCACGAATTAATGTT	0.408													A	95011265	G	A	95011265	3	1	104	1	0	0	0	0	1	0	0	0	15015	1058	37	1	547	1	SPATA9	5	95011265	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	147483	95011265	85903995	2355	68969											
CAST	831	broad.mit.edu	37	chr5	96064902	96064902	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccaagaaggaaagccaaaaGaacacacagaggtaaatgat	9	8	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:96064902G>T	uc003klz.1	+	5	337	c.175G>T	c.(175-177)GAA>TAA	p.E59*	CAST_uc003klt.2_Nonsense_Mutation_p.E59*|CAST_uc003klu.2_Nonsense_Mutation_p.E142*|CAST_uc003klv.2_Nonsense_Mutation_p.E120*|CAST_uc003klw.2_Intron|CAST_uc003klx.2_Intron|CAST_uc003kly.2_Nonsense_Mutation_p.E120*|CAST_uc011cuo.1_Nonsense_Mutation_p.E105*|CAST_uc011cup.1_Nonsense_Mutation_p.E37*|CAST_uc011cuq.1_Intron|CAST_uc011cur.1_Nonsense_Mutation_p.E45*|CAST_uc011cus.1_Nonsense_Mutation_p.E59*|CAST_uc003kma.1_Intron|CAST_uc011cut.1_Nonsense_Mutation_p.E37*|CAST_uc003kmb.2_Intron|CAST_uc003kmc.2_Nonsense_Mutation_p.E59*|CAST_uc003kmd.2_Nonsense_Mutation_p.E37*|CAST_uc003kme.2_Intron|CAST_uc003kmf.2_Nonsense_Mutation_p.E37*	NM_001042443	NP_001035908	P20810	ICAL_HUMAN	calpastatin isoform i	59							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(3)|ovary(1)|kidney(1)	5		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		AAAGCCAAAAGAACACACAGA	0.323													T	96064902	G	T	96064902	4	4	104	1	0	0	0	0	0	1	0	0	2684	943	33	5	450	5	CAST	5	96064902	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1053637	96064902	84850358	2356	68970											
ERAP1	51752	broad.mit.edu	37	chr5	96117444	96117444	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagagggcaaattcaatTtggcttttctcagtactgga	10	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:96117444T>G	uc003kmm.2	-	16	2747	c.2400A>C	c.(2398-2400)CAA>CAC	p.Q800H	ERAP1_uc003kml.2_Missense_Mutation_p.Q800H|ERAP1_uc010jbm.1_Missense_Mutation_p.Q612H|ERAP1_uc003kmn.2_Missense_Mutation_p.Q800H	NM_001040458	NP_001035548	Q9NZ08	ERAP1_HUMAN	type 1 tumor necrosis factor receptor shedding	800	Lumenal (Potential).				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CAAATTCAATTTGGCTTTTCT	0.418													G	96117444	T	G	96117444	3	3	104	1	0	0	0	0	1	0	0	0	5203	1838	64	5	474	5	ERAP1	5	96117444	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	52542	96117444	84797816	2357	68971											
RGMB	285704	broad.mit.edu	37	chr5	98129003	98129003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgtgcggcaggtgggtcGctacctgacccttgccatcc	13	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:98129003G>A	uc003knc.2	+	5	1385	c.983G>A	c.(982-984)CGC>CAC	p.R328H		NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	RGM domain family, member B	287					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding				0		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CAGGTGGGTCGCTACCTGACC	0.597													A	98129003	G	A	98129003	3	1	104	1	0	0	0	0	1	0	0	0	13281	1087	38	1	997	1	RGMB	5	98129003	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2011559	98129003	82786257	2358	68972											
CHD1	1105	broad.mit.edu	37	chr5	98209305	98209305	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttaatgttacctgttcgtTctgttcctgaagaactatcc	7	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:98209305T>C	uc003knf.2	-	25	3711	c.3563A>G	c.(3562-3564)GAA>GGA	p.E1188G	CHD1_uc010jbn.2_5'UTR	NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1188					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ACCTGTTCGTTCTGTTCCTGA	0.318													C	98209305	T	C	98209305	3	2	104	1	0	0	0	0	1	0	0	0	3323	1783	62	3	1613	3	CHD1	5	98209305	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	80302	98209305	82705955	2359	68973											
SLCO4C1	353189	broad.mit.edu	37	chr5	101592925	101592925	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgtgaacagtgcaaactTcattgtgtttttacatgtca	8	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:101592925T>C	uc003knm.2	-	8	1650	c.1363A>G	c.(1363-1365)AAG>GAG	p.K455E		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	455	Helical; Name=9; (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AGTGCAAACTTCATTGTGTTT	0.373													C	101592925	T	C	101592925	3	2	104	1	0	0	0	0	1	0	0	0	14730	1792	62	3	835	3	SLCO4C1	5	101592925	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	3383620	101592925	79322335	2360	68974											
SLCO6A1	133482	broad.mit.edu	37	chr5	101735385	101735385	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccgggtctggcatcaataAaatcaccttctgcatctgca	7	13	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:101735385A>C	uc003knn.2	-	10	1860	c.1688T>G	c.(1687-1689)TTT>TGT	p.F563C	SLCO6A1_uc003kno.2_Missense_Mutation_p.F310C|SLCO6A1_uc003knp.2_Missense_Mutation_p.F563C|SLCO6A1_uc003knq.2_Missense_Mutation_p.F501C	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	563	Extracellular (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GGCATCAATAAAATCACCTTC	0.338													C	101735385	A	C	101735385	3	2	104	1	0	0	0	0	1	0	0	0	14732	14	1	5	487	5	SLCO6A1	5	101735385	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	142460	101735385	79179875	2361	68975											
SLCO6A1	133482	broad.mit.edu	37	chr5	101795417	101795417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtacaccatgcaacgacagCggcaaaaagaaaattaatcc	7	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:101795417C>T	uc003knn.2	-	5	1136	c.964G>A	c.(964-966)GCT>ACT	p.A322T	SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.A322T|SLCO6A1_uc003knq.2_Missense_Mutation_p.A260T	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	322	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GCAACGACAGCGGCAAAAAGA	0.328													T	101795417	C	T	101795417	3	4	104	1	0	0	0	0	1	0	0	0	14732	768	27	1	1231	1	SLCO6A1	5	101795417	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	60032	101795417	79119843	2362	68976											
NUDT12	83594	broad.mit.edu	37	chr5	102895125	102895125	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccccaaaatacagcaatgTccagtgcagtctgccttgat	7	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:102895125T>C	uc003koi.2	-	3	344	c.251A>G	c.(250-252)GAC>GGC	p.D84G	NUDT12_uc011cvb.1_Missense_Mutation_p.D66G|NUDT12_uc010jbq.1_3'UTR	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN	nudix-type motif 12	84	ANK 3.					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity				0		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TACAGCAATGTCCAGTGCAGT	0.373													C	102895125	T	C	102895125	3	2	104	1	0	0	0	0	1	0	0	0	10728	1667	58	3	1157	3	NUDT12	5	102895125	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1099708	102895125	78020135	2363	68977											
FBXL17	64839	broad.mit.edu	37	chr5	107216831	107216831	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgatttctttacaccatccGacatccacagtctctattgt	5	12	2	1	rs143348449	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:107216831G>A	uc011cvc.1	-	8	2279	c.1872C>T	c.(1870-1872)GTC>GTT	p.V624V	FBXL17_uc003kon.3_Silent_p.V226V	NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	624											0		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		TACACCATCCGACATCCACAG	0.468													A	107216831	G	A	107216831	2	1	104	1	0	0	0	0	0	0	0	1	5713	1045	37	1		1	FBXL17	5	107216831	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4321706	107216831	73698429	2364	68978											
FER	2241	broad.mit.edu	37	chr5	108203635	108203635	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccttacaaaagatgcaagaaGaaatgataaaagcactgtaa	7	6	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:108203635G>T	uc003kop.1	+	6	1033	c.649G>T	c.(649-651)GAA>TAA	p.E217*	FER_uc011cve.1_Nonsense_Mutation_p.E157*|FER_uc011cvf.1_RNA|FER_uc011cvg.1_Nonsense_Mutation_p.E42*	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	217	Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GATGCAAGAAGAAATGATAAA	0.353													T	108203635	G	T	108203635	4	4	104	1	0	0	0	0	0	1	0	0	5813	943	33	5	663	5	FER	5	108203635	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	986804	108203635	72711625	2365	68979											
MAN2A1	4124	broad.mit.edu	37	chr5	109155379	109155379	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcttttaaagatctcttttCgagcacatataccgccattg	5	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:109155379C>T	uc003kou.1	+	14	3082	c.2119C>T	c.(2119-2121)CGA>TGA	p.R707*		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	707	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GATCTCTTTTCGAGCACATAT	0.308													T	109155379	C	T	109155379	4	4	104	1	0	0	0	0	0	1	0	0	9214	876	31	1	2173	1	MAN2A1	5	109155379	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	951744	109155379	71759881	2366	68980											
MAN2A1	4124	broad.mit.edu	37	chr5	109183456	109183456	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agattacagctaatctatttCgaatactactagaaaaaaga	5	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:109183456C>T	uc003kou.1	+	19	3904	c.2941C>T	c.(2941-2943)CGA>TGA	p.R981*		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	981	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TAATCTATTTCGAATACTACT	0.343													T	109183456	C	T	109183456	4	4	104	1	0	0	0	0	0	1	0	0	9214	876	31	1	3015	1	MAN2A1	5	109183456	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	28077	109183456	71731804	2367	68981											
WDR36	134430	broad.mit.edu	37	chr5	110445966	110445966	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagatgtatataacatgcagTctggcatacatcgaggaagt	10	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:110445966T>C	uc003kpd.2	+	13	1690	c.1573T>C	c.(1573-1575)TCT>CCT	p.S525P	WDR36_uc010jbu.2_RNA	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	525	WD 6.				response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)|skin(1)	2		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TAACATGCAGTCTGGCATACA	0.353													C	110445966	T	C	110445966	3	2	104	1	0	0	0	0	1	0	0	0	17287	1667	58	3	1623	3	WDR36	5	110445966	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1262510	110445966	70469294	2368	68982											
EPB41L4A	64097	broad.mit.edu	37	chr5	111754705	111754705	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaaaacttcgcagtaaAattcttccggaacagcgcag	10	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:111754705A>C	uc003kpv.1	-	1	306	c.32T>G	c.(31-33)TTT>TGT	p.F11C	EPB41L4A_uc003kpw.1_Missense_Mutation_p.F11C|FLJ11235_uc003kpx.1_5'Flank	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	11	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTCGCAGTAAAATTCTTCCGG	0.602													C	111754705	A	C	111754705	3	2	104	1	0	0	0	0	1	0	0	0	5155	14	1	5	2120	5	EPB41L4A	5	111754705	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1308739	111754705	69160555	2369	68983											
APC	324	broad.mit.edu	37	chr5	112151261	112151261	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagcacacactctgcacctCgaaggctgacaagtcatctg	9	13	3	1	rs137854568		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:112151261C>T	uc010jby.2	+	9	1284	c.904C>T	c.(904-906)CGA>TGA	p.R302*	APC_uc011cvt.1_Nonsense_Mutation_p.R284*|APC_uc003kpz.3_Nonsense_Mutation_p.R302*|APC_uc003kpy.3_Nonsense_Mutation_p.R302*|APC_uc010jbz.2_Nonsense_Mutation_p.R19*	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	302	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.R302*(10)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTCTGCACCTCGAAGGCTGAC	0.388		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			T	112151261	C	T	112151261	4	4	104	1	0	0	0	0	0	1	0	0	763	876	31	1	934	1	APC	5	112151261	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	396556	112151261	68763999	2370	68984											
APC	324	broad.mit.edu	37	chr5	112173621	112173621	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaacttttgacaatatagAcaatttaagtcccaaggcat	6	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:112173621A>G	uc010jby.2	+	16	2710	c.2330A>G	c.(2329-2331)GAC>GGC	p.D777G	APC_uc011cvt.1_Missense_Mutation_p.D759G|APC_uc003kpz.3_Missense_Mutation_p.D777G|APC_uc003kpy.3_Missense_Mutation_p.D777G|APC_uc010jbz.2_Missense_Mutation_p.D494G|APC_uc010jca.2_Missense_Mutation_p.D77G	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	777	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.D777fs*2(1)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GACAATATAGACAATTTAAGT	0.393		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			G	112173621	A	G	112173621	3	3	104	1	0	0	0	0	1	0	0	0	763	275	10	3	2388	3	APC	5	112173621	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	22360	112173621	68741639	2371	68985											
APC	324	broad.mit.edu	37	chr5	112174393	112174393	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcttaaatattcagatgaGcagttgaactctggaaggca	10	6	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:112174393G>A	uc010jby.2	+	16	3482	c.3102G>A	c.(3100-3102)GAG>GAA	p.E1034E	APC_uc011cvt.1_Silent_p.E1016E|APC_uc003kpz.3_Silent_p.E1034E|APC_uc003kpy.3_Silent_p.E1034E|APC_uc010jbz.2_Silent_p.E751E|APC_uc010jca.2_Silent_p.E334E	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1034	Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATTCAGATGAGCAGTTGAACT	0.358		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			A	112174393	G	A	112174393	2	1	104	1	0	0	0	0	0	0	0	1	763	962	34	2		2	APC	5	112174393	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	772	112174393	68740867	2372	68986											
APC	324	broad.mit.edu	37	chr5	112174916	112174916	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctggacaaagcagtaaaaccGaacatatgtcttcaagcagt	8	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:112174916G>T	uc010jby.2	+	16	4005	c.3625G>T	c.(3625-3627)GAA>TAA	p.E1209*	APC_uc011cvt.1_Nonsense_Mutation_p.E1191*|APC_uc003kpz.3_Nonsense_Mutation_p.E1209*|APC_uc003kpy.3_Nonsense_Mutation_p.E1209*|APC_uc010jbz.2_Nonsense_Mutation_p.E926*|APC_uc010jca.2_Nonsense_Mutation_p.E509*	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1209	Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.E1209V(1)|p.K1192fs*3(1)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAGTAAAACCGAACATATGTC	0.398		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			T	112174916	G	T	112174916	4	4	104	1	0	0	0	0	0	1	0	0	763	1059	37	5	3683	5	APC	5	112174916	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	523	112174916	68740344	2373	68987											
APC	324	broad.mit.edu	37	chr5	112175639	112175639	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaacagctcaaaccaagCgagaagtacctaaaaataaa	5	10	2	1	rs121913332		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:112175639C>T	uc010jby.2	+	16	4728	c.4348C>T	c.(4348-4350)CGA>TGA	p.R1450*	APC_uc011cvt.1_Nonsense_Mutation_p.R1432*|APC_uc003kpz.3_Nonsense_Mutation_p.R1450*|APC_uc003kpy.3_Nonsense_Mutation_p.R1450*|APC_uc010jbz.2_Nonsense_Mutation_p.R1167*|APC_uc010jca.2_Nonsense_Mutation_p.R750*	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1450	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.R1450*(115)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.R1450fs*22(1)|p.S1436fs*22(1)|p.R1450fs*5(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCAAACCAAGCGAGAAGTACC	0.478	R1450*(SW837_LARGE_INTESTINE)|R1450*(LS123_LARGE_INTESTINE)|R1450*(SW1417_LARGE_INTESTINE)|R1450*(MKN74_STOMACH)	12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			T	112175639	C	T	112175639	4	4	104	1	0	0	0	0	0	1	0	0	763	760	27	1	4406	1	APC	5	112175639	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	723	112175639	68739621	2374	68988											
APC	324	broad.mit.edu	37	chr5	112177901	112177901	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttgattactggaaaagttCgatctaattcagaaatttca	7	5	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:112177901C>T	uc010jby.2	+	16	6990	c.6610C>T	c.(6610-6612)CGA>TGA	p.R2204*	APC_uc011cvt.1_Nonsense_Mutation_p.R2186*|APC_uc003kpz.3_Nonsense_Mutation_p.R2204*|APC_uc003kpy.3_Nonsense_Mutation_p.R2204*|APC_uc010jbz.2_Nonsense_Mutation_p.R1921*|APC_uc010jca.2_Nonsense_Mutation_p.R1504*	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2204	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGGAAAAGTTCGATCTAATTC	0.363		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			T	112177901	C	T	112177901	4	4	104	1	0	0	0	0	0	1	0	0	763	876	31	1	6668	1	APC	5	112177901	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2262	112177901	68737359	2375	68989											
REEP5	7905	broad.mit.edu	37	chr5	112222851	112222851	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagccccattagaagggctCggggccatgcaccacaacag	11	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:112222851C>T	uc003kqe.1	-	4	525	c.381G>A	c.(379-381)CCG>CCA	p.P127P	SRP19_uc011cvu.1_Intron|SRP19_uc011cvv.1_Intron|REEP5_uc011cvw.1_Silent_p.P100P|REEP5_uc011cvx.1_RNA|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_RNA	NM_005669	NP_005660	Q00765	REEP5_HUMAN	receptor accessory protein 5	127						integral to membrane	protein binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		TAGAAGGGCTCGGGGCCATGC	0.537													T	112222851	C	T	112222851	2	4	104	1	0	0	0	0	0	0	0	1	13208	871	31	1		1	REEP5	5	112222851	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	44950	112222851	68692409	2376	68990											
DCP2	167227	broad.mit.edu	37	chr5	112321534	112321534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgttttgtttttgacagccGatttattttgcatattccca	7	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:112321534G>A	uc003kqh.2	+	2	254	c.56G>A	c.(55-57)CGA>CAA	p.R19Q	DCP2_uc011cwa.1_Intron	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN	DCP2 decapping enzyme	19					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|protein binding|RNA binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TTTGACAGCCGATTTATTTTG	0.358													A	112321534	G	A	112321534	3	1	104	1	0	0	0	0	1	0	0	0	4300	1058	37	1	62	1	DCP2	5	112321534	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	98683	112321534	68593726	2377	68991											
TSSK1B	83942	broad.mit.edu	37	chr5	112770308	112770308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtgatgtctcaaagatctCgtaggtcttaatgatggagc	11	6	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:112770308C>T	uc003kqm.2	-	1	421	c.229G>A	c.(229-231)GAG>AAG	p.E77K	MCC_uc003kql.3_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1	77	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|skin(2)|stomach(1)	5		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TCAAAGATCTCGTAGGTCTTA	0.532													T	112770308	C	T	112770308	3	4	104	1	0	0	0	0	1	0	0	0	16665	893	31	1	878	1	TSSK1B	5	112770308	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	448774	112770308	68144952	2378	68992											
YTHDC2	64848	broad.mit.edu	37	chr5	112862484	112862484	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctggaaagaccacacaggTttgtttcttttttgttgttt	9	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:112862484T>C	uc003kqn.2	+	4	858	c.675_splice	c.e4+2	p.Q225_splice	YTHDC2_uc010jce.1_Splice_Site_p.Q225_splice|YTHDC2_uc010jcf.1_Intron	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2								ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ACCACACAGGTTTGTTTCTTT	0.239													C	112862484	T	C	112862484	5	2	104	1	0	0	0	0	0	0	1	0	17494	1739	60	3	691	3	YTHDC2	5	112862484	Splice_Site	SNP	T	TCGA-BR-8680-01A-11D-2394-08	92176	112862484	68052776	2379	68993											
YTHDC2	64848	broad.mit.edu	37	chr5	112896785	112896785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttatttttaagggcagggcGatgtagacctggaatttgtt	12	4	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:112896785G>A	uc003kqn.2	+	18	2408	c.2225G>A	c.(2224-2226)CGA>CAA	p.R742Q	YTHDC2_uc010jcf.1_Missense_Mutation_p.R442Q	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	742	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGGGCAGGGCGATGTAGACCT	0.328													A	112896785	G	A	112896785	3	1	104	1	0	0	0	0	1	0	0	0	17494	1058	37	1	2295	1	YTHDC2	5	112896785	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	34301	112896785	68018475	2380	68994											
AQPEP	206338	broad.mit.edu	37	chr5	115298524	115298524	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagaagccgacgccaaccccGaaacccagcagtgcacgcga	10	17	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:115298524G>A	uc003kro.2	+	1	374	c.210G>A	c.(208-210)CCG>CCA	p.P70P	AQPEP_uc003krp.2_RNA|uc003krn.1_5'UTR	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	70	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						CGCCAACCCCGAAACCCAGCA	0.706													A	115298524	G	A	115298524	2	1	104	1	0	0	0	0	0	0	0	1	834	1045	37	1		1	AQPEP	5	115298524	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2401739	115298524	65616736	2381	68995											
DMXL1	1657	broad.mit.edu	37	chr5	118485264	118485264	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggcaaccatcttctaaacaaGaacctgttataacagattcg	6	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:118485264G>T	uc003ksd.2	+	18	3923	c.3742G>T	c.(3742-3744)GAA>TAA	p.E1248*	DMXL1_uc010jcl.1_Nonsense_Mutation_p.E1248*	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1248	WD 10.									ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTCTAAACAAGAACCTGTTAT	0.413													T	118485264	G	T	118485264	4	4	104	1	0	0	0	0	0	1	0	0	4594	943	33	5	3812	5	DMXL1	5	118485264	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3186740	118485264	62429996	2382	68996											
DMXL1	1657	broad.mit.edu	37	chr5	118503325	118503325	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgagaaattgaatgacattCagttggctcttgtaatagca	9	5	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:118503325C>A	uc003ksd.2	+	23	5345	c.5164C>A	c.(5164-5166)CAG>AAG	p.Q1722K	DMXL1_uc010jcl.1_Missense_Mutation_p.Q1722K	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1722										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAATGACATTCAGTTGGCTCT	0.299													A	118503325	C	A	118503325	3	1	104	1	0	0	0	0	1	0	0	0	4594	827	29	5	5254	5	DMXL1	5	118503325	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	18061	118503325	62411935	2383	68997											
HSD17B4	3295	broad.mit.edu	37	chr5	118861613	118861613	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgttctctcttttcctaggTtttgacaagcccatattaca	6	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:118861613T>C	uc003ksj.2	+	19	1698	c.1575T>C	c.(1573-1575)GGT>GGC	p.G525G	HSD17B4_uc011cwg.1_Silent_p.G501G|HSD17B4_uc011cwh.1_Silent_p.G507G|HSD17B4_uc011cwi.1_Silent_p.G550G|HSD17B4_uc003ksk.3_Silent_p.G378G|HSD17B4_uc011cwj.1_Silent_p.G378G|HSD17B4_uc010jcn.1_Silent_p.G263G|HSD17B4_uc010jco.1_5'UTR	NM_000414	NP_000405	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	525	MaoC-like.|Enoyl-CoA hydratase 2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			ovary(1)|pancreas(1)	2		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TTTTCCTAGGTTTTGACAAGC	0.358													C	118861613	T	C	118861613	2	2	104	1	0	0	0	0	0	0	0	1	7386	1739	60	3		3	HSD17B4	5	118861613	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	358288	118861613	62053647	2384	68998											
FAM170A	340069	broad.mit.edu	37	chr5	118969821	118969821	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacaaagaggaaaggggcatGaaaatatactacatgcaggt	11	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:118969821G>T	uc003ksm.2	+	3	588	c.378G>T	c.(376-378)ATG>ATT	p.M126I	FAM170A_uc003ksl.2_Missense_Mutation_p.M126I|FAM170A_uc003ksn.2_Missense_Mutation_p.M126I|FAM170A_uc003kso.2_Missense_Mutation_p.M79I	NM_182761	NP_877438	A1A519	F170A_HUMAN	family with sequence similarity 170, member A	126						intracellular	zinc ion binding			skin(1)	1						AAAGGGGCATGAAAATATACT	0.463													T	118969821	G	T	118969821	3	4	104	1	0	0	0	0	1	0	0	0	5489	1290	45	5	388	5	FAM170A	5	118969821	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	108208	118969821	61945439	2385	68999											
PRR16	51334	broad.mit.edu	37	chr5	119800232	119800232	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcctgtccagccgagggAccgccggcagcctccaaaac	11	17	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:119800232A>G	uc003ksq.2	+	1	214	c.51A>G	c.(49-51)GGA>GGG	p.G17G	PRR16_uc003ksp.2_5'UTR	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	proline rich 16	17										pancreas(2)|ovary(1)	3		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CAGCCGAGGGACCGCCGGCAG	0.607													G	119800232	A	G	119800232	2	3	104	1	0	0	0	0	0	0	0	1	12589	290	10	3		3	PRR16	5	119800232	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	830411	119800232	61115028	2386	69000											
SNCAIP	9627	broad.mit.edu	37	chr5	121759111	121759111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagcatcagctgtcatccacGaccagcacaagctgtccact	7	15	2	0	rs140366495		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:121759111G>A	uc003ksw.1	+	4	885	c.679G>A	c.(679-681)GAC>AAC	p.D227N	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.2_Missense_Mutation_p.D227N|SNCAIP_uc003ksx.1_Missense_Mutation_p.D274N|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.D227N	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	227					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGTCATCCACGACCAGCACAA	0.463													A	121759111	G	A	121759111	3	1	104	1	0	0	0	0	1	0	0	0	14841	1058	37	1	689	1	SNCAIP	5	121759111	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1958879	121759111	59156149	2387	69001											
SNX2	6643	broad.mit.edu	37	chr5	122137575	122137575	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actttctagattgaagaagaAgcaaatggagacatttttga	9	4	1	6			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:122137575A>C	uc003kte.2	+	4	451	c.402A>C	c.(400-402)GAA>GAC	p.E134D	SNX2_uc011cwn.1_Missense_Mutation_p.E17D	NM_003100	NP_003091	O60749	SNX2_HUMAN	sorting nexin 2	134					cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			kidney(1)	1		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		TTGAAGAAGAAGCAAATGGAG	0.229													C	122137575	A	C	122137575	3	2	104	1	0	0	0	0	1	0	0	0	14891	69	3	5	416	5	SNX2	5	122137575	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	378464	122137575	58777685	2388	69002											
CEP120	153241	broad.mit.edu	37	chr5	122724294	122724294	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccagtgaagcaggtacagaaGaactggctgaaatgaacata	11	7	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:122724294G>T	uc003ktk.2	-	10	1344	c.1262C>A	c.(1261-1263)TCT>TAT	p.S421Y	CEP120_uc011cwq.1_Missense_Mutation_p.S230Y|CEP120_uc010jcz.1_Missense_Mutation_p.S395Y	NM_153223	NP_694955	Q8N960	CE120_HUMAN	coiled-coil domain containing 100	421						centrosome				ovary(1)	1						AGGTACAGAAGAACTGGCTGA	0.373													T	122724294	G	T	122724294	3	4	104	1	0	0	0	0	1	0	0	0	3246	942	33	5	1746	5	CEP120	5	122724294	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	586719	122724294	58190966	2389	69003											
CEP120	153241	broad.mit.edu	37	chr5	122729052	122729052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctacactgctacggatgCgaactgatgctctctctggc	9	12	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:122729052C>T	uc003ktk.2	-	7	834	c.752G>A	c.(751-753)CGC>CAC	p.R251H	CEP120_uc011cwq.1_Missense_Mutation_p.R60H|CEP120_uc010jcz.1_Missense_Mutation_p.R225H	NM_153223	NP_694955	Q8N960	CE120_HUMAN	coiled-coil domain containing 100	251						centrosome				ovary(1)	1						GCTACGGATGCGAACTGATGC	0.403													T	122729052	C	T	122729052	3	4	104	1	0	0	0	0	1	0	0	0	3246	768	27	1	2268	1	CEP120	5	122729052	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4758	122729052	58186208	2390	69004											
ZNF608	57507	broad.mit.edu	37	chr5	124080003	124080003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccccggaaggggcctggCtgccactgccattctggtgg	15	15	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:124080003C>T	uc003ktq.1	-	1	803	c.680G>A	c.(679-681)AGC>AAC	p.S227N	ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Missense_Mutation_p.S227N|ZNF608_uc003ktt.1_Missense_Mutation_p.S227N	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	227						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AGGGGCCTGGCTGCCACTGCC	0.652													T	124080003	C	T	124080003	3	4	104	1	0	0	0	0	1	0	0	0	18031	797	28	2	3894	2	ZNF608	5	124080003	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1350951	124080003	56835257	2391	69005											
GRAMD3	65983	broad.mit.edu	37	chr5	125819236	125819236	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggatatagcagttctggtTctcaaactcctgaatctgag	9	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:125819236T>G	uc003ktu.2	+	9	1247	c.817T>G	c.(817-819)TCT>GCT	p.S273A	GRAMD3_uc011cwt.1_Missense_Mutation_p.S288A|GRAMD3_uc011cwv.1_Missense_Mutation_p.S281A|GRAMD3_uc011cww.1_Missense_Mutation_p.S169A|GRAMD3_uc011cwx.1_RNA|GRAMD3_uc011cwy.1_Missense_Mutation_p.S164A|GRAMD3_uc011cwz.1_Missense_Mutation_p.S257A|GRAMD3_uc011cwu.1_Missense_Mutation_p.S257A	NM_023927	NP_076416	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3 isoform 2	273										central_nervous_system(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		CAGTTCTGGTTCTCAAACTCC	0.398													G	125819236	T	G	125819236	3	3	104	1	0	0	0	0	1	0	0	0	6751	1783	62	5	1065	5	GRAMD3	5	125819236	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1739233	125819236	55096024	2392	69006											
MEGF10	84466	broad.mit.edu	37	chr5	126791103	126791103	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcttcacagacctgggaaaGaattctgaatataattcaag	7	8	4	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:126791103G>T	uc003kuh.3	+	25	3398	c.3036G>T	c.(3034-3036)AAG>AAT	p.K1012N	MEGF10_uc003kui.3_Missense_Mutation_p.K1012N	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	1012	Cytoplasmic (Potential).|Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACCTGGGAAAGAATTCTGAAT	0.388													T	126791103	G	T	126791103	3	4	104	1	0	0	0	0	1	0	0	0	9460	933	33	5	3126	5	MEGF10	5	126791103	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	971867	126791103	54124157	2393	69007											
FBN2	2201	broad.mit.edu	37	chr5	127615904	127615904	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaggcattcagtgcctgaaGaacttgactggaatccttca	9	10	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:127615904G>T	uc003kuu.2	-	56	7557	c.7118C>A	c.(7117-7119)TCT>TAT	p.S2373Y		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2373	EGF-like 40; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGTGCCTGAAGAACTTGACTG	0.378													T	127615904	G	T	127615904	3	4	104	1	0	0	0	0	1	0	0	0	5703	942	33	5	1660	5	FBN2	5	127615904	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	824801	127615904	53299356	2394	69008											
FBN2	2201	broad.mit.edu	37	chr5	127641543	127641543	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accaacagcaggtcattgtaActgaatcctgtagggcattc	9	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:127641543A>C	uc003kuu.2	-	43	5959	c.5520T>G	c.(5518-5520)AGT>AGG	p.S1840R		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1840	EGF-like 29; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGTCATTGTAACTGAATCCTG	0.378													C	127641543	A	C	127641543	3	2	104	1	0	0	0	0	1	0	0	0	5703	40	2	5	3310	5	FBN2	5	127641543	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	25639	127641543	53273717	2395	69009											
FBN2	2201	broad.mit.edu	37	chr5	127782261	127782261	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtattgatacagtttcctcCttggcatatccctgggatag	9	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:127782261C>A	uc003kuu.2	-	7	1304	c.865G>T	c.(865-867)GGA>TGA	p.G289*	FBN2_uc003kuv.2_Nonsense_Mutation_p.G256*|FBN2_uc003kuw.3_Nonsense_Mutation_p.G289*|FBN2_uc003kux.1_Nonsense_Mutation_p.G289*	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	289	EGF-like 4; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAGTTTCCTCCTTGGCATATC	0.408													A	127782261	C	A	127782261	4	1	104	1	0	0	0	0	0	1	0	0	5703	690	24	5	8109	5	FBN2	5	127782261	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	140718	127782261	53132999	2396	69010											
SLC27A6	28965	broad.mit.edu	37	chr5	128302039	128302039	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaaagacaacctcggaAacctttcatcatctatgagg	7	11	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:128302039A>C	uc003kuy.2	+	2	605	c.209A>C	c.(208-210)AAA>ACA	p.K70T	SLC27A6_uc003kuz.2_Missense_Mutation_p.K70T	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	70					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CAACCTCGGAAACCTTTCATC	0.453													C	128302039	A	C	128302039	3	2	104	1	0	0	0	0	1	0	0	0	14530	14	1	5	211	5	SLC27A6	5	128302039	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	519778	128302039	52613221	2397	69011											
SLC27A6	28965	broad.mit.edu	37	chr5	128362977	128362977	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagacttaatagtccaggaTcaggacaatttcctttattt	8	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:128362977T>G	uc003kuy.2	+	8	1803	c.1407T>G	c.(1405-1407)GAT>GAG	p.D469E	SLC27A6_uc003kuz.2_Missense_Mutation_p.D469E	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	469					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TAGTCCAGGATCAGGACAATT	0.388													G	128362977	T	G	128362977	3	3	104	1	0	0	0	0	1	0	0	0	14530	1432	50	5	1433	5	SLC27A6	5	128362977	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	60938	128362977	52552283	2398	69012											
CHSY3	337876	broad.mit.edu	37	chr5	129520286	129520286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgagaaccagccccctcGacagagcctcagtagcattt	9	14	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:129520286G>A	uc003kvd.2	+	3	1451	c.1451G>A	c.(1450-1452)CGA>CAA	p.R484Q		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	484	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAGCCCCCTCGACAGAGCCTC	0.493													A	129520286	G	A	129520286	3	1	104	1	0	0	0	0	1	0	0	0	3413	1058	37	1	1461	1	CHSY3	5	129520286	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1157309	129520286	51394974	2399	69013											
RAPGEF6	51735	broad.mit.edu	37	chr5	130940376	130940376	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgaagataagaataaataGtatttaagtcctgtggaaca	8	4	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:130940376G>T	uc003kvn.1	-	2	286	c.80C>A	c.(79-81)ACT>AAT	p.T27N	RAPGEF6_uc003kvp.1_Missense_Mutation_p.T77N|RAPGEF6_uc003kvo.1_Missense_Mutation_p.T27N|RAPGEF6_uc010jdi.1_Missense_Mutation_p.T27N|RAPGEF6_uc010jdj.1_Missense_Mutation_p.T27N|RAPGEF6_uc003kvr.2_Missense_Mutation_p.T27N|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.T27N	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	27					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGAATAAATAGTATTTAAGTC	0.318													T	130940376	G	T	130940376	3	4	104	1	0	0	0	0	1	0	0	0	13048	1029	36	5	5319	5	RAPGEF6	5	130940376	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1420090	130940376	49974884	2400	69014											
ACSL6	23305	broad.mit.edu	37	chr5	131298258	131298258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccatggacatagatttgCgccacaggttggctccggat	11	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:131298258C>T	uc010jdo.1	-	18	1835	c.1752G>A	c.(1750-1752)GCG>GCA	p.A584A	ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Silent_p.A609A|ACSL6_uc003kvy.1_Silent_p.A609A|ACSL6_uc003kwb.2_Silent_p.A574A|ACSL6_uc003kvz.1_Silent_p.A509A|ACSL6_uc003kwa.1_Silent_p.A595A|ACSL6_uc003kvw.1_Silent_p.A230A|ACSL6_uc010jdn.1_Silent_p.A599A	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	584	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATAGATTTGCGCCACAGGTT	0.448													T	131298258	C	T	131298258	2	4	104	1	0	0	0	0	0	0	0	1	181	755	27	1		1	ACSL6	5	131298258	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	357882	131298258	49617002	2401	69015											
ACSL6	23305	broad.mit.edu	37	chr5	131321104	131321104	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgtgcctctgcttacctgtCgtgccgcttgtgaaacacac	10	14	1	1	rs148729460	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:131321104C>T	uc010jdo.1	-	9	920	c.837G>A	c.(835-837)ACG>ACA	p.T279T	ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Silent_p.T304T|ACSL6_uc003kvy.1_Silent_p.T304T|ACSL6_uc003kwb.2_Silent_p.T269T|ACSL6_uc003kvz.1_Silent_p.T244T|ACSL6_uc003kwa.1_Silent_p.T290T|ACSL6_uc010jdn.1_Silent_p.T294T|ACSL6_uc010jdp.1_RNA	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	279	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTTACCTGTCGTGCCGCTTG	0.592													T	131321104	C	T	131321104	2	4	104	1	0	0	0	0	0	0	0	1	181	871	31	1		1	ACSL6	5	131321104	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	22846	131321104	49594156	2402	69016											
IRF1	3659	broad.mit.edu	37	chr5	131822766	131822766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagggagttcatggcacagcGaaagttggccttccacgtct	12	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:131822766G>A	uc003kxa.2	-	4	478	c.244C>T	c.(244-246)CGC>TGC	p.R82C	IRF1_uc003kxd.2_RNA|IRF1_uc003kxb.2_Missense_Mutation_p.R82C|IRF1_uc010jdt.1_Missense_Mutation_p.R82C	NM_002198	NP_002189	P10914	IRF1_HUMAN	interferon regulatory factor 1	82	IRF tryptophan pentad repeat.				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm					0		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		ATGGCACAGCGAAAGTTGGCC	0.557													A	131822766	G	A	131822766	3	1	104	1	0	0	0	0	1	0	0	0	7827	1058	37	1	761	1	IRF1	5	131822766	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	501662	131822766	49092494	2403	69017											
IL4	3565	broad.mit.edu	37	chr5	132009824	132009824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtccacggacacaagtgcGatatcaccttacaggagatc	9	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:132009824G>A	uc003kxk.1	+	1	452	c.82G>A	c.(82-84)GAT>AAT	p.D28N	IL4_uc003kxl.1_Missense_Mutation_p.D28N	NM_000589	NP_000580	P05112	IL4_HUMAN	interleukin 4 isoform 1 precursor	28					B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding				0		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		ACACAAGTGCGATATCACCTT	0.498													A	132009824	G	A	132009824	3	1	104	1	0	0	0	0	1	0	0	0	7696	1058	37	1	84	1	IL4	5	132009824	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	187058	132009824	48905436	2404	69018											
KIF3A	11127	broad.mit.edu	37	chr5	132034929	132034929	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctagtttcatcaaagacTgacgcagactctcctcagta	6	11	5	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:132034929T>G	uc003kxo.2	-	16	2139	c.1985A>C	c.(1984-1986)CAG>CCG	p.Q662P	KIF3A_uc003kxm.2_Missense_Mutation_p.Q244P|KIF3A_uc003kxn.2_Missense_Mutation_p.Q647P|KIF3A_uc011cxf.1_Missense_Mutation_p.Q689P|KIF3A_uc003kxp.2_Missense_Mutation_p.Q665P	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	662					blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			pancreas(1)	1		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATCAAAGACTGACGCAGACT	0.443													G	132034929	T	G	132034929	3	3	104	1	0	0	0	0	1	0	0	0	8300	1580	55	5	122	5	KIF3A	5	132034929	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	25105	132034929	48880331	2405	69019											
AFF4	27125	broad.mit.edu	37	chr5	132216807	132216807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtccctgccgggtataacGaactagatctgtcatgatgc	10	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:132216807G>A	uc003kyd.2	-	21	3844	c.3436C>T	c.(3436-3438)CGT>TGT	p.R1146C	AFF4_uc011cxk.1_Missense_Mutation_p.R824C	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	1146					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGGGTATAACGAACTAGATCT	0.418													A	132216807	G	A	132216807	3	1	104	1	0	0	0	0	1	0	0	0	359	1058	37	1	59	1	AFF4	5	132216807	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	181878	132216807	48698453	2406	69020											
PHF15	23338	broad.mit.edu	37	chr5	133871564	133871564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagatggaagagaagaggcGaaaatactccatcagcagtg	13	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:133871564G>A	uc003kzo.1	+	2	196	c.17G>A	c.(16-18)CGA>CAA	p.R6Q	PHF15_uc011cxt.1_Missense_Mutation_p.R6Q|PHF15_uc003kzk.2_Missense_Mutation_p.R22Q|PHF15_uc003kzl.2_Missense_Mutation_p.R6Q|PHF15_uc003kzm.2_Missense_Mutation_p.R6Q|PHF15_uc003kzn.2_Missense_Mutation_p.R6Q	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	6					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGAAGAGGCGAAAATACTCC	0.488													A	133871564	G	A	133871564	3	1	104	1	0	0	0	0	1	0	0	0	11826	1058	37	1	19	1	PHF15	5	133871564	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1654757	133871564	47043696	2407	69021											
PHF15	23338	broad.mit.edu	37	chr5	133909341	133909341	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgttttctcaggttagaAatctgtgctacatggtgaca	9	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:133909341A>C	uc003kzo.1	+	10	1620	c.1441A>C	c.(1441-1443)AAT>CAT	p.N481H	PHF15_uc011cxt.1_Missense_Mutation_p.N481H|PHF15_uc003kzk.2_Missense_Mutation_p.N497H|PHF15_uc003kzl.2_Missense_Mutation_p.N481H|PHF15_uc003kzm.2_Missense_Mutation_p.N481H|PHF15_uc003kzn.2_Intron|PHF15_uc003kzp.2_Missense_Mutation_p.N189H	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	481					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAGGTTAGAAATCTGTGCTA	0.507													C	133909341	A	C	133909341	3	2	104	1	0	0	0	0	1	0	0	0	11826	14	1	5	1475	5	PHF15	5	133909341	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	37777	133909341	47005919	2408	69022											
SAR1B	51128	broad.mit.edu	37	chr5	133944178	133944178	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggcacattagcaatggtttCatctgtcattagtgactgaa	9	7	3	2	rs137853125		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:133944178C>A	uc003kzq.2	-	7	611	c.364G>T	c.(364-366)GAA>TAA	p.E122*	SAR1B_uc003kzr.2_Nonsense_Mutation_p.E122*	NM_001033503	NP_001028675	Q9Y6B6	SAR1B_HUMAN	SAR1a gene homolog 2	122					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi cisterna membrane	GTP binding|GTPase activity|metal ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAATGGTTTCATCTGTCATT	0.353													A	133944178	C	A	133944178	4	1	104	1	0	0	0	0	0	1	0	0	13840	835	29	5	240	5	SAR1B	5	133944178	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	34837	133944178	46971082	2409	69023											
CAMLG	819	broad.mit.edu	37	chr5	134086512	134086512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tattgtcgggaattcctgccGaagtgataaatcgatcaatg	10	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:134086512G>A	uc003kzt.2	+	4	868	c.763G>A	c.(763-765)GAA>AAA	p.E255K	CAMLG_uc003kzu.2_3'UTR	NM_001745	NP_001736	P49069	CAMLG_HUMAN	calcium modulating ligand	255	Helical; (Potential).				defense response	endoplasmic reticulum|integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	AATTCCTGCCGAAGTGATAAA	0.368													A	134086512	G	A	134086512	3	1	104	1	0	0	0	0	1	0	0	0	2609	1059	37	1	777	1	CAMLG	5	134086512	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	142334	134086512	46828748	2410	69024											
C5orf24	134553	broad.mit.edu	37	chr5	134190891	134190891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggaaccaccaaatcagcaGgataccggaccagcacaggc	11	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:134190891G>A	uc003kzx.2	+	2	362	c.301G>A	c.(301-303)GGA>AGA	p.G101R	C5orf24_uc003kzy.3_Missense_Mutation_p.G101R|C5orf24_uc003kzz.2_Missense_Mutation_p.G101R	NM_152409	NP_689622	Q7Z6I8	CE024_HUMAN	hypothetical protein LOC134553	101											0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAAATCAGCAGGATACCGGAC	0.498													A	134190891	G	A	134190891	3	1	104	1	0	0	0	0	1	0	0	0	2287	1001	35	4	303	4	C5orf24	5	134190891	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	104379	134190891	46724369	2411	69025											
TGFBI	7045	broad.mit.edu	37	chr5	135382148	135382148	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccggcagcttcaccatcttCgcccctagcaacgaggcctg	9	18	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:135382148C>T	uc003lbf.3	+	4	584	c.423C>T	c.(421-423)TTC>TTT	p.F141F	TGFBI_uc003lbg.3_5'UTR|TGFBI_uc003lbh.3_5'UTR|TGFBI_uc011cyb.1_5'UTR|TGFBI_uc010jed.2_5'Flank	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	141	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCACCATCTTCGCCCCTAGCA	0.637													T	135382148	C	T	135382148	2	4	104	1	0	0	0	0	0	0	0	1	15817	883	31	1		1	TGFBI	5	135382148	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1191257	135382148	45533112	2412	69026											
TRPC7	57113	broad.mit.edu	37	chr5	135567128	135567128	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gacgttataaacgccgtagaGaacgtagccaatgttctcga	10	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:135567128G>T	uc003lbn.1	-	7	1954	c.1951C>A	c.(1951-1953)CTC>ATC	p.L651I	TRPC7_uc010jef.1_Missense_Mutation_p.L588I|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.L582I|TRPC7_uc010jei.1_Missense_Mutation_p.L527I|TRPC7_uc010jej.1_Missense_Mutation_p.L203I	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	652	Helical; (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACGCCGTAGAGAACGTAGCCA	0.408													T	135567128	G	T	135567128	3	4	104	1	0	0	0	0	1	0	0	0	16581	942	33	5	654	5	TRPC7	5	135567128	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	184980	135567128	45348132	2413	69027											
TRPC7	57113	broad.mit.edu	37	chr5	135693035	135693035	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttctccctcagcgttgtgTgccggcgctgcatgtttttg	11	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:135693035T>C	uc003lbn.1	-	1	41	c.38A>G	c.(37-39)CAC>CGC	p.H13R	TRPC7_uc010jef.1_Missense_Mutation_p.H5R|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.H5R|TRPC7_uc010jei.1_Missense_Mutation_p.H5R|TRPC7_uc010jej.1_5'UTR	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	14	Cytoplasmic (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAGCGTTGTGTGCCGGCGCTG	0.592													C	135693035	T	C	135693035	3	2	104	1	0	0	0	0	1	0	0	0	16581	1696	59	3	2591	3	TRPC7	5	135693035	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	125907	135693035	45222225	2414	69028											
MYOT	9499	broad.mit.edu	37	chr5	137206353	137206353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactaagcatgtttaactacGaacgtccaaaacacttcatc	4	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:137206353G>A	uc011cye.1	+	2	30	c.13G>A	c.(13-15)GAA>AAA	p.E5K	MYOT_uc003lbv.2_Missense_Mutation_p.E5K|MYOT_uc011cyg.1_Intron|MYOT_uc011cyh.1_Intron	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	myotilin isoform b	5					muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTTTAACTACGAACGTCCAAA	0.468													A	137206353	G	A	137206353	3	1	104	1	0	0	0	0	1	0	0	0	10094	1059	37	1	15	1	MYOT	5	137206353	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1513318	137206353	43708907	2415	69029											
MYOT	9499	broad.mit.edu	37	chr5	137217750	137217750	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttcattcaagtgccagagAacatgtcgattgatgaagga	11	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:137217750A>C	uc011cye.1	+	6	789	c.772A>C	c.(772-774)AAC>CAC	p.N258H	MYOT_uc003lbv.2_Missense_Mutation_p.N258H|MYOT_uc011cyg.1_Missense_Mutation_p.N74H|MYOT_uc011cyh.1_Missense_Mutation_p.N143H	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	myotilin isoform b	258	Necessary for interaction with ACTA1.|Ig-like C2-type 1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGTGCCAGAGAACATGTCGAT	0.393													C	137217750	A	C	137217750	3	2	104	1	0	0	0	0	1	0	0	0	10094	246	9	5	790	5	MYOT	5	137217750	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	11397	137217750	43697510	2416	69030											
PKD2L2	27039	broad.mit.edu	37	chr5	137241990	137241990	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttagctactatgactattTtattgcttcctgtgaaatca	6	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:137241990T>C	uc003lby.2	+	6	898	c.842T>C	c.(841-843)TTT>TCT	p.F281S	PKD2L2_uc010jep.1_Missense_Mutation_p.F221S|PKD2L2_uc003lbw.1_Missense_Mutation_p.F281S|PKD2L2_uc003lbx.2_Missense_Mutation_p.F281S|PKD2L2_uc011cyi.1_5'UTR	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	281	Helical; (Potential).					integral to membrane	calcium ion binding|ion channel activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TATGACTATTTTATTGCTTCC	0.343													C	137241990	T	C	137241990	3	2	104	1	0	0	0	0	1	0	0	0	11968	1841	64	3	864	3	PKD2L2	5	137241990	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	24240	137241990	43673270	2417	69031											
PKD2L2	27039	broad.mit.edu	37	chr5	137242046	137242046	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttttgtcttcacaacacaaGaagtcaaaaaaataaaagaa	4	6	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:137242046G>A	uc003lby.2	+	6	954	c.898G>A	c.(898-900)GAA>AAA	p.E300K	PKD2L2_uc010jep.1_Missense_Mutation_p.E240K|PKD2L2_uc003lbw.1_Missense_Mutation_p.E300K|PKD2L2_uc003lbx.2_Missense_Mutation_p.E300K|PKD2L2_uc011cyi.1_5'UTR	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	300	Cytoplasmic (Potential).					integral to membrane	calcium ion binding|ion channel activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CACAACACAAGAAGTCAAAAA	0.318													A	137242046	G	A	137242046	3	1	104	1	0	0	0	0	1	0	0	0	11968	943	33	4	920	4	PKD2L2	5	137242046	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	56	137242046	43673214	2418	69032											
FAM13B	51306	broad.mit.edu	37	chr5	137284799	137284799	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggtctagagaagagccaaAgctttttggaagtgtgttac	12	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:137284799A>C	uc003lbz.2	-	17	2473	c.1939T>G	c.(1939-1941)TTT>GTT	p.F647V	FAM13B_uc003lcb.2_Missense_Mutation_p.F551V|FAM13B_uc003lca.2_Missense_Mutation_p.F647V	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	hypothetical protein LOC51306 isoform 1	647					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						GAAGAGCCAAAGCTTTTTGGA	0.388													C	137284799	A	C	137284799	3	2	104	1	0	0	0	0	1	0	0	0	5453	72	3	5	836	5	FAM13B	5	137284799	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	42753	137284799	43630461	2419	69033											
KIF20A	10112	broad.mit.edu	37	chr5	137518869	137518869	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttctccagaaacaagtcatCgatgggcacagccagacact	8	13	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:137518869C>T	uc003lcj.2	+	8	1340	c.844C>T	c.(844-846)CGA>TGA	p.R282*	KIF20A_uc011cyo.1_Nonsense_Mutation_p.R264*	NM_005733	NP_005724	O95235	KI20A_HUMAN	kinesin family member 20A	282	Kinesin-motor.				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AACAAGTCATCGATGGGCACA	0.498													T	137518869	C	T	137518869	4	4	104	1	0	0	0	0	0	1	0	0	8286	876	31	1	870	1	KIF20A	5	137518869	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	234070	137518869	43396391	2420	69034											
GFRA3	2676	broad.mit.edu	37	chr5	137589038	137589038	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagagttggctgtgaaAacgcatcttagctgcaatgg	14	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:137589038A>C	uc003lcn.2	-	7	1191	c.1051T>G	c.(1051-1053)TTT>GTT	p.F351V	GFRA3_uc003lco.2_Missense_Mutation_p.F320V	NM_001496	NP_001487	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3 preproprotein	351					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TGGCTGTGAAAACGCATCTTA	0.552													C	137589038	A	C	137589038	3	2	104	1	0	0	0	0	1	0	0	0	6349	14	1	5	159	5	GFRA3	5	137589038	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	70169	137589038	43326222	2421	69035											
CDC25C	995	broad.mit.edu	37	chr5	137627783	137627783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctggcatcgacggggagCgatataggccacttctgctc	12	12	2	0	rs148887677		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:137627783C>T	uc003lcp.1	-	8	909	c.638G>A	c.(637-639)CGC>CAC	p.R213H	CDC25C_uc003lcq.1_Missense_Mutation_p.R140H|CDC25C_uc003lcr.1_Missense_Mutation_p.R213H|CDC25C_uc011cyp.1_Missense_Mutation_p.R230H|CDC25C_uc003lcs.1_Missense_Mutation_p.R291H	NM_001790	NP_001781	P30307	MPIP3_HUMAN	cell division cycle 25C isoform a	213					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			lung(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGACGGGGAGCGATATAGGCC	0.313													T	137627783	C	T	137627783	3	4	104	1	0	0	0	0	1	0	0	0	3064	768	27	1	811	1	CDC25C	5	137627783	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	38745	137627783	43287477	2422	69036											
KDM3B	51780	broad.mit.edu	37	chr5	137715275	137715275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactgatctcccttttaggtCcctacagtgttcaaggtcac	8	12	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:137715275C>T	uc003lcy.1	+	5	783	c.583C>T	c.(583-585)CCC>TCC	p.P195S	KDM3B_uc010jew.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	195					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						CCTTTTAGGTCCCTACAGTGT	0.403													T	137715275	C	T	137715275	3	4	104	1	0	0	0	0	1	0	0	0	8127	855	30	4	601	4	KDM3B	5	137715275	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	87492	137715275	43199985	2423	69037											
KDM3B	51780	broad.mit.edu	37	chr5	137771343	137771343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaccatgcagtgaaagatgCggttggcaccctcaaggctc	11	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:137771343C>T	uc003lcy.1	+	24	5440	c.5240C>T	c.(5239-5241)GCG>GTG	p.A1747V	KDM3B_uc010jew.1_Missense_Mutation_p.A1403V|KDM3B_uc011cys.1_Missense_Mutation_p.A779V	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	1747					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						GTGAAAGATGCGGTTGGCACC	0.478													T	137771343	C	T	137771343	3	4	104	1	0	0	0	0	1	0	0	0	8127	768	27	1	5334	1	KDM3B	5	137771343	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	56068	137771343	43143917	2424	69038											
ETF1	2107	broad.mit.edu	37	chr5	137844015	137844015	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtagtcatcaaggtcaaaAaattcatcgtctcctccttg	6	10	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:137844015A>C	uc003ldc.3	-	11	1458	c.1293T>G	c.(1291-1293)TTT>TTG	p.F431L	ETF1_uc011cyv.1_Missense_Mutation_p.F417L|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_Missense_Mutation_p.F398L	NM_004730	NP_004721	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	431					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAAGGTCAAAAAATTCATCGT	0.473													C	137844015	A	C	137844015	3	2	104	1	0	0	0	0	1	0	0	0	5268	11	1	5	24	5	ETF1	5	137844015	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	72672	137844015	43071245	2425	69039											
HSPA9	3313	broad.mit.edu	37	chr5	137892159	137892159	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctttttgtatgccatttcGaacagcttcagtgatgcctg	8	10	1	1	rs148730345		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:137892159G>A	uc003ldf.2	-	16	2052	c.1944C>T	c.(1942-1944)TTC>TTT	p.F648F	HSPA9_uc003lde.2_Silent_p.F65F	NM_004134	NP_004125	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 precursor	648					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATGCCATTTCGAACAGCTTCA	0.453													A	137892159	G	A	137892159	2	1	104	1	0	0	0	0	0	0	0	1	7417	1049	37	1		1	HSPA9	5	137892159	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	48144	137892159	43023101	2426	69040											
CTNNA1	1495	broad.mit.edu	37	chr5	138160307	138160307	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcctctatactgcatcccAggcatgcctacagcaccctg	7	16	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:138160307A>G	uc003ldh.2	+	6	772	c.677A>G	c.(676-678)CAG>CGG	p.Q226R	CTNNA1_uc011cyx.1_Missense_Mutation_p.Q123R|CTNNA1_uc011cyy.1_Missense_Mutation_p.Q103R|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Missense_Mutation_p.Q226R	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	226	Involved in homodimerization.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACTGCATCCCAGGCATGCCTA	0.517													G	138160307	A	G	138160307	3	3	104	1	0	0	0	0	1	0	0	0	4012	188	7	3	695	3	CTNNA1	5	138160307	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	268148	138160307	42754953	2427	69041											
CTNNA1	1495	broad.mit.edu	37	chr5	138160426	138160426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccaggccactgcctcagacGatgcctcacagcaccagggt	10	17	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:138160426G>A	uc003ldh.2	+	6	891	c.796G>A	c.(796-798)GAT>AAT	p.D266N	CTNNA1_uc011cyx.1_Missense_Mutation_p.D163N|CTNNA1_uc011cyy.1_Missense_Mutation_p.D143N|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Missense_Mutation_p.D266N	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	266					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGCCTCAGACGATGCCTCACA	0.532													A	138160426	G	A	138160426	3	1	104	1	0	0	0	0	1	0	0	0	4012	1058	37	1	814	1	CTNNA1	5	138160426	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	119	138160426	42754834	2428	69042											
LRRTM2	26045	broad.mit.edu	37	chr5	138208713	138208713	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tagatattatacttcacattCtttgtatggcagctgctgac	7	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:138208713C>A	uc011cyz.1	-	2	1994	c.1537G>T	c.(1537-1539)GAA>TAA	p.E513*	CTNNA1_uc003ldh.2_Intron|CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Intron|LRRTM2_uc010jez.2_RNA|LRRTM2_uc011cza.1_Nonsense_Mutation_p.E379*|CTNNA1_uc003ldl.2_5'Flank	NM_015564	NP_056379	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	513	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACTTCACATTCTTTGTATGGC	0.363													A	138208713	C	A	138208713	4	1	104	1	0	0	0	0	0	1	0	0	9040	922	32	5	17	5	LRRTM2	5	138208713	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	48287	138208713	42706547	2429	69043											
SIL1	64374	broad.mit.edu	37	chr5	138386648	138386648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttgcctttcaaattatttCggaacttgtcctcatattgg	6	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:138386648C>T	uc003ldm.2	-	3	349	c.332G>A	c.(331-333)CGA>CAA	p.R111Q	SIL1_uc003ldn.2_Missense_Mutation_p.R110Q|SIL1_uc003ldo.2_Missense_Mutation_p.R111Q|SIL1_uc003ldp.2_Missense_Mutation_p.R111Q	NM_022464	NP_071909	Q9H173	SIL1_HUMAN	SIL1 protein precursor	111	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAAATTATTTCGGAACTTGTC	0.438									Marinesco-Sj_gren_syndrome				T	138386648	C	T	138386648	3	4	104	1	0	0	0	0	1	0	0	0	14321	884	31	1	1081	1	SIL1	5	138386648	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	177935	138386648	42528612	2430	69044											
SLC23A1	9963	broad.mit.edu	37	chr5	138715727	138715727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaggaaggtgaggttgCgcaggtactgggagaagagg	20	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:138715727C>T	uc003leh.2	-	7	783	c.686G>A	c.(685-687)CGC>CAC	p.R229H	SLC23A1_uc003leg.2_Missense_Mutation_p.R233H	NM_005847	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (nucleobase	229					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	GGTGAGGTTGCGCAGGTACTG	0.602													T	138715727	C	T	138715727	3	4	104	1	0	0	0	0	1	0	0	0	14462	768	27	1	1142	1	SLC23A1	5	138715727	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	329079	138715727	42199533	2431	69045											
PSD2	84249	broad.mit.edu	37	chr5	139216473	139216473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcacgaagaaggtgacgcGaatcctggatggtggcaacc	15	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:139216473G>A	uc003leu.1	+	10	1686	c.1481G>A	c.(1480-1482)CGA>CAA	p.R494Q		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	494					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGTGACGCGAATCCTGGAT	0.582													A	139216473	G	A	139216473	3	1	104	1	0	0	0	0	1	0	0	0	12647	1058	37	1	1515	1	PSD2	5	139216473	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	500746	139216473	41698787	2432	69046											
PSD2	84249	broad.mit.edu	37	chr5	139217339	139217339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctgaagcttaagacagccGactggagggtattcctcttc	11	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:139217339G>A	uc003leu.1	+	12	2000	c.1795G>A	c.(1795-1797)GAC>AAC	p.D599N		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	599	PH.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAGACAGCCGACTGGAGGGT	0.612													A	139217339	G	A	139217339	3	1	104	1	0	0	0	0	1	0	0	0	12647	1058	37	1	1837	1	PSD2	5	139217339	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	866	139217339	41697921	2433	69047											
NRG2	9542	broad.mit.edu	37	chr5	139231256	139231256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtggcgcggtggccctgcGccgctcctccaggttgtagg	18	13	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:139231256G>A	uc003lex.1	-	9	1930	c.1705C>T	c.(1705-1707)CGC>TGC	p.R569C	NRG2_uc003lev.1_Missense_Mutation_p.R577C|NRG2_uc003lew.1_Missense_Mutation_p.R571C|NRG2_uc003ley.1_Missense_Mutation_p.R563C	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	569	Cytoplasmic (Potential).				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|breast(2)|ovary(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCCCTGCGCCGCTCCTCC	0.632													A	139231256	G	A	139231256	3	1	104	1	0	0	0	0	1	0	0	0	10648	1087	38	1	855	1	NRG2	5	139231256	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13917	139231256	41684004	2434	69048											
NRG2	9542	broad.mit.edu	37	chr5	139231356	139231356	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgatgatagcatgatcccCgactgggagtcagaagtcag	12	9	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:139231356C>A	uc003lex.1	-	9	1830	c.1605G>T	c.(1603-1605)TCG>TCT	p.S535S	NRG2_uc003lev.1_Silent_p.S543S|NRG2_uc003lew.1_Silent_p.S537S|NRG2_uc003ley.1_Silent_p.S529S	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	535	Cytoplasmic (Potential).				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|breast(2)|ovary(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATGATCCCCGACTGGGAGT	0.617													A	139231356	C	A	139231356	2	1	104	1	0	0	0	0	0	0	0	1	10648	639	23	5		5	NRG2	5	139231356	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	100	139231356	41683904	2435	69049											
TMCO6	55374	broad.mit.edu	37	chr5	140022539	140022539	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccactctccctcagcAcatgctacaaatgttgcaac	6	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140022539A>G	uc003lgl.2	+	7	820	c.719A>G	c.(718-720)CAC>CGC	p.H240R	TMCO6_uc003lgm.2_Missense_Mutation_p.H246R|TMCO6_uc010jft.2_5'UTR|TMCO6_uc003lgn.2_Missense_Mutation_p.H131R|TMCO6_uc003lgo.2_5'UTR	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	240					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCCTCAGCACATGCTACAA	0.532													G	140022539	A	G	140022539	3	3	104	1	0	0	0	0	1	0	0	0	15997	159	6	3	745	3	TMCO6	5	140022539	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	791183	140022539	40892721	2436	69050											
TMCO6	55374	broad.mit.edu	37	chr5	140023501	140023501	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagttctttttccagaAacagcccagtctgctccctg	7	14	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140023501A>G	uc003lgl.2	+	9	1156	c.1055A>G	c.(1054-1056)AAA>AGA	p.K352R	TMCO6_uc003lgm.2_Missense_Mutation_p.K358R|TMCO6_uc010jft.2_Missense_Mutation_p.K112R|TMCO6_uc003lgn.2_Missense_Mutation_p.K243R|TMCO6_uc003lgo.2_Missense_Mutation_p.K112R	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	352	Helical; (Potential).				protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTTCCAGAAACAGCCCAGT	0.517													G	140023501	A	G	140023501	3	3	104	1	0	0	0	0	1	0	0	0	15997	14	1	3	1089	3	TMCO6	5	140023501	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	962	140023501	40891759	2437	69051											
WDR55	54853	broad.mit.edu	37	chr5	140047890	140047890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaccatctcaaggcctgccGagctgtggccttctctgaag	10	14	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140047890G>A	uc003lgr.3	+	2	377	c.263G>A	c.(262-264)CGA>CAA	p.R88Q	WDR55_uc011czl.1_5'Flank	NM_017706	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	88	WD 2.				rRNA processing	cytoplasm|nucleolus				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGCCTGCCGAGCTGTGGCC	0.562													A	140047890	G	A	140047890	3	1	104	1	0	0	0	0	1	0	0	0	17304	1058	37	1	269	1	WDR55	5	140047890	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	24389	140047890	40867370	2438	69052											
HARS2	23438	broad.mit.edu	37	chr5	140077629	140077629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaactgaaagaaggggTcatcaagatccgttcagtgg	13	7	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140077629T>C	uc003lgx.2	+	12	1643	c.1427T>C	c.(1426-1428)GTC>GCC	p.V476A	HARS2_uc011czr.1_Missense_Mutation_p.V451A|HARS2_uc011czs.1_Missense_Mutation_p.V332A|HARS2_uc011czt.1_Missense_Mutation_p.V304A|HARS2_uc011czu.1_Missense_Mutation_p.V302A|ZMAT2_uc003lgy.1_5'Flank	NM_012208	NP_036340	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2 precursor	476					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGAAGGGGTCATCAAGATC	0.473													C	140077629	T	C	140077629	3	2	104	1	0	0	0	0	1	0	0	0	6960	1667	58	3	1473	3	HARS2	5	140077629	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	29739	140077629	40837631	2439	69053											
PCDHA1	56147	broad.mit.edu	37	chr5	140166397	140166397	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctaacgtacacgctcagcccGagtgattatttctctttgga	8	11	2	1	rs150817350		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140166397G>A	uc003lhb.2	+	1	522	c.522G>A	c.(520-522)CCG>CCA	p.P174P	PCDHA1_uc003lha.2_Silent_p.P174P|PCDHA1_uc003lgz.2_Silent_p.P174P	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	174	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTCAGCCCGAGTGATTATT	0.418													A	140166397	G	A	140166397	2	1	104	1	0	0	0	0	0	0	0	1	11519	1045	37	1		1	PCDHA1	5	140166397	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	88768	140166397	40748863	2440	69054											
PCDHA2	56146	broad.mit.edu	37	chr5	140174848	140174848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgtgcgggcggagcgCggaatgtagcatccacgtgg	19	9	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140174848C>T	uc003lhd.2	+	1	405	c.299C>T	c.(298-300)GCG>GTG	p.A100V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A100V|PCDHA2_uc011czy.1_Missense_Mutation_p.A100V	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	100	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGGAGCGCGGAATGTAGC	0.542													T	140174848	C	T	140174848	3	4	104	1	0	0	0	0	1	0	0	0	11524	768	27	1	301	1	PCDHA2	5	140174848	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	8451	140174848	40740412	2441	69055											
PCDHA4	56144	broad.mit.edu	37	chr5	140187116	140187116	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcgtagacaggccgctgcAggttttccatgtggacgtgg	15	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140187116A>C	uc003lhi.2	+	1	445	c.344A>C	c.(343-345)CAG>CCG	p.Q115P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.Q115P|PCDHA4_uc011daa.1_Missense_Mutation_p.Q115P	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	115	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCGCTGCAGGTTTTCCAT	0.582													C	140187116	A	C	140187116	3	2	104	1	0	0	0	0	1	0	0	0	11526	188	7	5	346	5	PCDHA4	5	140187116	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	12268	140187116	40728144	2442	69056											
PCDHA4	56144	broad.mit.edu	37	chr5	140187186	140187186	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgttcccagcaacacaaaaGaacctgtccatcgcggaatc	8	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140187186G>T	uc003lhi.2	+	1	515	c.414G>T	c.(412-414)AAG>AAT	p.K138N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.K138N|PCDHA4_uc011daa.1_Missense_Mutation_p.K138N	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	138	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACACAAAAGAACCTGTCCA	0.572													T	140187186	G	T	140187186	3	4	104	1	0	0	0	0	1	0	0	0	11526	933	33	5	416	5	PCDHA4	5	140187186	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	70	140187186	40728074	2443	69057											
PCDHA6	56142	broad.mit.edu	37	chr5	140208802	140208802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgccctaattagcgtgaacGacctcgattcaggtgccaac	9	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140208802G>A	uc003lho.2	+	1	1153	c.1126G>A	c.(1126-1128)GAC>AAC	p.D376N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.D376N|PCDHA6_uc011dab.1_Missense_Mutation_p.D376N	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	376	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGCGTGAACGACCTCGATTC	0.498													A	140208802	G	A	140208802	3	1	104	1	0	0	0	0	1	0	0	0	11528	1058	37	1	1128	1	PCDHA6	5	140208802	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	21616	140208802	40706458	2444	69058											
PCDHA7	56141	broad.mit.edu	37	chr5	140214350	140214350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaggtgaaggacattaacGacaaccctccggtgttccca	11	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140214350G>A	uc003lhq.2	+	1	382	c.382G>A	c.(382-384)GAC>AAC	p.D128N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.D128N	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	128	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACATTAACGACAACCCTCC	0.597													A	140214350	G	A	140214350	3	1	104	1	0	0	0	0	1	0	0	0	11529	1058	37	1	384	1	PCDHA7	5	140214350	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5548	140214350	40700910	2445	69059											
PCDHA8	56140	broad.mit.edu	37	chr5	140221499	140221499	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttgagctcgtattaagaaAatccttggacagagaggacg	13	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140221499A>C	uc003lhs.2	+	1	593	c.593A>C	c.(592-594)AAA>ACA	p.K198T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.K198T	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	198	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTATTAAGAAAATCCTTGGAC	0.473													C	140221499	A	C	140221499	3	2	104	1	0	0	0	0	1	0	0	0	11530	14	1	5	595	5	PCDHA8	5	140221499	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	7149	140221499	40693761	2446	69060											
PCDHA9	9752	broad.mit.edu	37	chr5	140228097	140228097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaaatgttatactcaagtcGaggagatccagagggtcagc	12	7	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140228097G>A	uc003lhu.2	+	1	741	c.17G>A	c.(16-18)CGA>CAA	p.R6Q	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.R6Q	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	6					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTCAAGTCGAGGAGATCCA	0.488													A	140228097	G	A	140228097	3	1	104	1	0	0	0	0	1	0	0	0	11531	1058	37	1	19	1	PCDHA9	5	140228097	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	6598	140228097	40687163	2447	69061											
PCDHA11	56138	broad.mit.edu	37	chr5	140249484	140249484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgtgctcaaactaaacGccacagaccgagacgaagga	9	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140249484G>A	uc003lia.2	+	1	1654	c.796G>A	c.(796-798)GCC>ACC	p.A266T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A266T	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	266	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAACTAAACGCCACAGACCG	0.388													A	140249484	G	A	140249484	3	1	104	1	0	0	0	0	1	0	0	0	11521	1087	38	1	798	1	PCDHA11	5	140249484	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	21387	140249484	40665776	2448	69062											
PCDHA12	56137	broad.mit.edu	37	chr5	140255526	140255526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcattttcctctagagggcGcttctgatgcggatatcggc	11	11	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140255526G>A	uc003lic.2	+	1	596	c.469G>A	c.(469-471)GCT>ACT	p.A157T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A157T	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	157	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTAGAGGGCGCTTCTGATGC	0.408													A	140255526	G	A	140255526	3	1	104	1	0	0	0	0	1	0	0	0	11522	1087	38	1	471	1	PCDHA12	5	140255526	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	6042	140255526	40659734	2449	69063											
PCDHAC1	56135	broad.mit.edu	37	chr5	140307492	140307492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgtgaacgatcatgcccccGaactggacttcctgactctt	8	14	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140307492G>A	uc003lih.2	+	1	1191	c.1015G>A	c.(1015-1017)GAA>AAA	p.E339K	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.E339K	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	339	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATGCCCCCGAACTGGACTT	0.522													A	140307492	G	A	140307492	3	1	104	1	0	0	0	0	1	0	0	0	11532	1059	37	1	1017	1	PCDHAC1	5	140307492	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	51966	140307492	40607768	2450	69064											
PCDHAC1	56135	broad.mit.edu	37	chr5	140307515	140307515	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggacttcctgactctttcGaacccagtacctgaggacgc	9	14	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140307515G>A	uc003lih.2	+	1	1214	c.1038G>A	c.(1036-1038)TCG>TCA	p.S346S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Silent_p.S346S	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	346	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTCTTTCGAACCCAGTAC	0.517													A	140307515	G	A	140307515	2	1	104	1	0	0	0	0	0	0	0	1	11532	1045	37	1		1	PCDHAC1	5	140307515	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	23	140307515	40607745	2451	69065											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308872	140308872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caatatcctgtattcagattCggaataggaaaggggatcac	10	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140308872C>T	uc003lih.2	+	1	2571	c.2395C>T	c.(2395-2397)CGG>TGG	p.R799W	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.R799W	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	799	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTCAGATTCGGAATAGGAA	0.453													T	140308872	C	T	140308872	3	4	104	1	0	0	0	0	1	0	0	0	11532	875	31	1	2397	1	PCDHAC1	5	140308872	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1357	140308872	40606388	2452	69066											
PCDHB1	29930	broad.mit.edu	37	chr5	140431993	140431993	+	Missense_Mutation	SNP	A	A	C													cctcgattttgaagccattgAaacatacgacattgacattc							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140431993A>C	uc003lik.1	+	1	1015	c.938A>C	c.(937-939)GAA>GCA	p.E313A		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	313	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGCCATTGAAACATACGAC	0.458													C	140431993	A	C	140431993	3	2	104	1	0	0	0	0	1	0	0	0	11534	246	9	5	940	5	PCDHB1	5	140431993	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	123121	140431993	40483267	2453	69067	319	2									
PCDHB1	29930	broad.mit.edu	37	chr5	140432001	140432001	+	Missense_Mutation	SNP	G	G	A													ttgaagccattgaaacatacGacattgacattcaagctaca							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140432001G>A	uc003lik.1	+	1	1023	c.946G>A	c.(946-948)GAC>AAC	p.D316N		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	316	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAAACATACGACATTGACAT	0.463													A	140432001	G	A	140432001	3	1	104	1	0	0	0	0	1	0	0	0	11534	1058	37	1	948	1	PCDHB1	5	140432001	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	8	140432001	40483259	2454	69068	319	2									
PCDHB1	29930	broad.mit.edu	37	chr5	140432773	140432773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaacggcaccttgccctGcaatgacctggtgcccaggt	12	14	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140432773G>A	uc003lik.1	+	1	1795	c.1718G>A	c.(1717-1719)TGC>TAC	p.C573Y		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	573	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTTGCCCTGCAATGACCTG	0.502													A	140432773	G	A	140432773	3	1	104	1	0	0	0	0	1	0	0	0	11534	1319	46	2	1720	2	PCDHB1	5	140432773	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	772	140432773	40482487	2455	69069											
PCDHB1	29930	broad.mit.edu	37	chr5	140432871	140432871	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaattcttggctttcatatCatctacttaaggccactgac	6	10	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140432871C>A	uc003lik.1	+	1	1893	c.1816C>A	c.(1816-1818)CAT>AAT	p.H606N		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	606	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTTTCATATCATCTACTTAA	0.468													A	140432871	C	A	140432871	3	1	104	1	0	0	0	0	1	0	0	0	11534	826	29	5	1818	5	PCDHB1	5	140432871	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	98	140432871	40482389	2456	69070											
PCDHB1	29930	broad.mit.edu	37	chr5	140432958	140432958	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taaggcagatatctgagagaGaccccatgatgcagaaattg	11	7	1	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140432958G>T	uc003lik.1	+	1	1980	c.1903G>T	c.(1903-1905)GAC>TAC	p.D635Y		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	635	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTGAGAGAGACCCCATGAT	0.423													T	140432958	G	T	140432958	3	4	104	1	0	0	0	0	1	0	0	0	11534	942	33	5	1905	5	PCDHB1	5	140432958	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	87	140432958	40482302	2457	69071											
PCDHB3	56132	broad.mit.edu	37	chr5	140481185	140481185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgattaatagttatgaagtcGacatcgaggccaaggatggc	12	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140481185G>A	uc003lio.2	+	1	952	c.952G>A	c.(952-954)GAC>AAC	p.D318N	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	318	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTATGAAGTCGACATCGAGGC	0.428													A	140481185	G	A	140481185	3	1	104	1	0	0	0	0	1	0	0	0	11543	1058	37	1	954	1	PCDHB3	5	140481185	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	48227	140481185	40434075	2458	69072											
PCDHB3	56132	broad.mit.edu	37	chr5	140482283	140482283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccggcccaggcccaggccGacttgctcaccgtctacctg	10	19	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140482283G>A	uc003lio.2	+	1	2050	c.2050G>A	c.(2050-2052)GAC>AAC	p.D684N	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	684	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCCAGGCCGACTTGCTCAC	0.682													A	140482283	G	A	140482283	3	1	104	1	0	0	0	0	1	0	0	0	11543	1058	37	1	2052	1	PCDHB3	5	140482283	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1098	140482283	40432977	2459	69073											
PCDHB4	56131	broad.mit.edu	37	chr5	140502262	140502262	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtctggcacggtcatggttCgaatcctgatcatggacatc	12	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140502262C>T	uc003lip.1	+	1	682	c.682C>T	c.(682-684)CGA>TGA	p.R228*		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	228	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)			GGTCATGGTTCGAATCCTGAT	0.542													T	140502262	C	T	140502262	4	4	104	1	0	0	0	0	0	1	0	0	11544	876	31	1	684	1	PCDHB4	5	140502262	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	19979	140502262	40412998	2460	69074											
PCDHB5	26167	broad.mit.edu	37	chr5	140515899	140515899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcaaccatttgtaatagacGagaaaacagcagaaattcgc	7	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140515899G>A	uc003liq.2	+	1	1100	c.883G>A	c.(883-885)GAG>AAG	p.E295K		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	295	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTAATAGACGAGAAAACAGC	0.458													A	140515899	G	A	140515899	3	1	104	1	0	0	0	0	1	0	0	0	11545	1059	37	1	885	1	PCDHB5	5	140515899	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13637	140515899	40399361	2461	69075											
PCDHB6	56130	broad.mit.edu	37	chr5	140529924	140529924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggagaggtgggttctgaatCgattcagtattccgtattgg	15	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140529924C>T	uc003lir.2	+	1	86	c.86C>T	c.(85-87)TCG>TTG	p.S29L	PCDHB6_uc011dah.1_Intron	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	29	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTTCTGAATCGATTCAGTAT	0.478													T	140529924	C	T	140529924	3	4	104	1	0	0	0	0	1	0	0	0	11546	893	31	1	88	1	PCDHB6	5	140529924	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	14025	140529924	40385336	2462	69076											
PCDHB6	56130	broad.mit.edu	37	chr5	140530736	140530736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgcaatcacaggagaaattCggctgagaaaggctttggat	12	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140530736C>T	uc003lir.2	+	1	898	c.898C>T	c.(898-900)CGG>TGG	p.R300W	PCDHB6_uc011dah.1_Missense_Mutation_p.R164W	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	300	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGAAATTCGGCTGAGAAA	0.443													T	140530736	C	T	140530736	3	4	104	1	0	0	0	0	1	0	0	0	11546	875	31	1	900	1	PCDHB6	5	140530736	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	812	140530736	40384524	2463	69077											
PCDHB7	56129	broad.mit.edu	37	chr5	140552652	140552652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaaattttactgctcagttCgcttactggtgatctacttc	7	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140552652C>T	uc003lit.2	+	1	410	c.236C>T	c.(235-237)TCG>TTG	p.S79L		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	79	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCTCAGTTCGCTTACTGGT	0.473													T	140552652	C	T	140552652	3	4	104	1	0	0	0	0	1	0	0	0	11547	893	31	1	238	1	PCDHB7	5	140552652	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	21916	140552652	40362608	2464	69078											
PCDHB7	56129	broad.mit.edu	37	chr5	140553101	140553101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcagggaccgccctcgtgCgcattctggttctagacgta	12	12	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140553101C>T	uc003lit.2	+	1	859	c.685C>T	c.(685-687)CGC>TGC	p.R229C		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	229	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCCTCGTGCGCATTCTGGT	0.542													T	140553101	C	T	140553101	3	4	104	1	0	0	0	0	1	0	0	0	11547	768	27	1	687	1	PCDHB7	5	140553101	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	449	140553101	40362159	2465	69079											
PCDHB7	56129	broad.mit.edu	37	chr5	140553637	140553637	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatactctggtaacagagaaAcctttggatcgagagaggaa	11	6	1	2	rs142786900	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140553637A>C	uc003lit.2	+	1	1395	c.1221A>C	c.(1219-1221)AAA>AAC	p.K407N		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	407	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAACAGAGAAACCTTTGGATC	0.502													C	140553637	A	C	140553637	3	2	104	1	0	0	0	0	1	0	0	0	11547	40	2	5	1223	5	PCDHB7	5	140553637	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	536	140553637	40361623	2466	69080											
PCDHB8	56128	broad.mit.edu	37	chr5	140558153	140558153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagccccaactcctattttCgggtcctcacccgcaaacgc	6	18	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140558153C>T	uc011dai.1	+	1	724	c.538C>T	c.(538-540)CGG>TGG	p.R180W	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	180	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCTATTTTCGGGTCCTCAC	0.493													T	140558153	C	T	140558153	3	4	104	1	0	0	0	0	1	0	0	0	11548	875	31	1	540	1	PCDHB8	5	140558153	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4516	140558153	40357107	2467	69081											
PCDHB8	56128	broad.mit.edu	37	chr5	140559922	140559922	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgagttccagttcctgaaAccagtattacctaatattca	5	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140559922A>G	uc011dai.1	+	1	2493	c.2307A>G	c.(2305-2307)AAA>AAG	p.K769K	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	769	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTTCCTGAAACCAGTATTAC	0.478													G	140559922	A	G	140559922	2	3	104	1	0	0	0	0	0	0	0	1	11548	40	2	3		3	PCDHB8	5	140559922	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1769	140559922	40355338	2468	69082											
PCDHB10	56126	broad.mit.edu	37	chr5	140573028	140573028	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatcctttttctggggaaatCtttctcagagaattgcttga	8	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140573028C>A	uc003lix.2	+	1	1077	c.903C>A	c.(901-903)ATC>ATA	p.I301I		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	301	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGGGAAATCTTTCTCAGAG	0.368													A	140573028	C	A	140573028	2	1	104	1	0	0	0	0	0	0	0	1	11535	903	32	5		5	PCDHB10	5	140573028	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	13106	140573028	40342232	2469	69083											
PCDHB11	56125	broad.mit.edu	37	chr5	140579519	140579519	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acctggggctgaaggtgagaGaactgtcctcacggggggct	17	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140579519G>T	uc003liy.2	+	1	172	c.172G>T	c.(172-174)GAA>TAA	p.E58*	PCDHB11_uc011daj.1_Intron	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	58	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGGTGAGAGAACTGTCCTC	0.512													T	140579519	G	T	140579519	4	4	104	1	0	0	0	0	0	1	0	0	11536	943	33	5	174	5	PCDHB11	5	140579519	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	6491	140579519	40335741	2470	69084											
PCDHB11	56125	broad.mit.edu	37	chr5	140581471	140581471	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttctcggtgctcctgttCgtggcggtgcggctgtgcag	15	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140581471C>T	uc003liy.2	+	1	2124	c.2124C>T	c.(2122-2124)TTC>TTT	p.F708F	PCDHB11_uc011daj.1_Silent_p.F343F	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	708	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGTTCGTGGCGGTGC	0.682													T	140581471	C	T	140581471	2	4	104	1	0	0	0	0	0	0	0	1	11536	883	31	1		1	PCDHB11	5	140581471	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1952	140581471	40333789	2471	69085											
PCDHB13	56123	broad.mit.edu	37	chr5	140594772	140594772	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttaccagcccaatacctgaGaacgcgcctgaaactgtggt	9	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140594772G>A	uc003lja.1	+	1	1264	c.1077G>A	c.(1075-1077)GAG>GAA	p.E359E		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	359	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATACCTGAGAACGCGCCTG	0.448													A	140594772	G	A	140594772	2	1	104	1	0	0	0	0	0	0	0	1	11538	933	33	4		4	PCDHB13	5	140594772	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13301	140594772	40320488	2472	69086											
PCDHB14	56122	broad.mit.edu	37	chr5	140605445	140605445	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggggaaatcgagaactttCgaaatagctttggacttaac	11	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140605445C>T	uc003ljb.2	+	1	2368	c.2368C>T	c.(2368-2370)CGA>TGA	p.R790*	PCDHB14_uc011dal.1_Nonsense_Mutation_p.R637*	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	790	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGAACTTTCGAAATAGCTT	0.343													T	140605445	C	T	140605445	4	4	104	1	0	0	0	0	0	1	0	0	11539	876	31	1	2370	1	PCDHB14	5	140605445	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	10673	140605445	40309815	2473	69087											
PCDHB15	56121	broad.mit.edu	37	chr5	140625165	140625165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggagcctgcaggggagCgctttcccgaacaaaggcaa	14	10	0	1	rs147410183		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140625165C>T	uc003lje.2	+	1	19	c.19C>T	c.(19-21)CGC>TGC	p.R7C		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	7					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGGGGAGCGCTTTCCCGA	0.537													T	140625165	C	T	140625165	3	4	104	1	0	0	0	0	1	0	0	0	11540	768	27	1	21	1	PCDHB15	5	140625165	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	19720	140625165	40290095	2474	69088											
PCDHB15	56121	broad.mit.edu	37	chr5	140625274	140625274	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggaggaaacagagagaggttCttttgtagccaacctggcca	13	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140625274C>A	uc003lje.2	+	1	128	c.128C>A	c.(127-129)TCT>TAT	p.S43Y		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	43	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAGAGGTTCTTTTGTAGCC	0.547													A	140625274	C	A	140625274	3	1	104	1	0	0	0	0	1	0	0	0	11540	913	32	5	130	5	PCDHB15	5	140625274	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	109	140625274	40289986	2475	69089											
PCDHB15	56121	broad.mit.edu	37	chr5	140625481	140625481	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttccaagtgttactgaaaaAacctttggaagtatttcgag	8	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140625481A>C	uc003lje.2	+	1	335	c.335A>C	c.(334-336)AAA>ACA	p.K112T		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	112	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTACTGAAAAAACCTTTGGAA	0.438													C	140625481	A	C	140625481	3	2	104	1	0	0	0	0	1	0	0	0	11540	14	1	5	337	5	PCDHB15	5	140625481	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	207	140625481	40289779	2476	69090											
PCDHB15	56121	broad.mit.edu	37	chr5	140627444	140627444	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaaagtaatgatttcaagttCttgaagcctatattcccaaa	6	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140627444C>A	uc003lje.2	+	1	2298	c.2298C>A	c.(2296-2298)TTC>TTA	p.F766L		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	766	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTCAAGTTCTTGAAGCCTA	0.473													A	140627444	C	A	140627444	3	1	104	1	0	0	0	0	1	0	0	0	11540	912	32	5	2300	5	PCDHB15	5	140627444	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1963	140627444	40287816	2477	69091											
SLC25A2	83884	broad.mit.edu	37	chr5	140682859	140682859	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaaaacgatcggctcagttCatagccaccaaagaaaaaga	7	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140682859C>A	uc003ljf.2	-	1	754	c.574G>T	c.(574-576)GAA>TAA	p.E192*		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 member 2	192	Solcar 2.				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			ovary(1)	1		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CGGCTCAGTTCATAGCCACCA	0.463													A	140682859	C	A	140682859	4	1	104	1	0	0	0	0	0	1	0	0	14482	835	29	5	335	5	SLC25A2	5	140682859	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	55415	140682859	40232401	2478	69092											
PCDHGA1	56114	broad.mit.edu	37	chr5	140710513	140710513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcagcttgatcaccgcgCgcaggatagaccgggaggag	17	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140710513C>T	uc003lji.1	+	1	262	c.262C>T	c.(262-264)CGC>TGC	p.R88C	PCDHGA1_uc011dan.1_Missense_Mutation_p.R88C	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	88	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCACCGCGCGCAGGATAGA	0.537													T	140710513	C	T	140710513	3	4	104	1	0	0	0	0	1	0	0	0	11550	768	27	1	264	1	PCDHGA1	5	140710513	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	27654	140710513	40204747	2479	69093											
PCDHGA1	56114	broad.mit.edu	37	chr5	140711198	140711198	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgaagaatacaaaatgtattCaatggaagttcaagcccagg	9	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140711198C>A	uc003lji.1	+	1	947	c.947C>A	c.(946-948)TCA>TAA	p.S316*	PCDHGA1_uc011dan.1_Nonsense_Mutation_p.S316*	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	316	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAATGTATTCAATGGAAGTT	0.388													A	140711198	C	A	140711198	4	1	104	1	0	0	0	0	0	1	0	0	11550	838	29	5	949	5	PCDHGA1	5	140711198	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	685	140711198	40204062	2480	69094											
PCDHGB1	56104	broad.mit.edu	37	chr5	140730274	140730274	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccttacccggggtaaaattCtctctggattctgctcaaga	9	11	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140730274C>A	uc003ljo.1	+	1	447	c.447C>A	c.(445-447)TTC>TTA	p.F149L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.F149L	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	149	Extracellular (Potential).|Cadherin 2.				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)			GGGTAAAATTCTCTCTGGATT	0.413													A	140730274	C	A	140730274	3	1	104	1	0	0	0	0	1	0	0	0	11562	912	32	5	449	5	PCDHGB1	5	140730274	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	19076	140730274	40184986	2481	69095											
PCDHGB1	56104	broad.mit.edu	37	chr5	140730670	140730670	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctatgccttcctcaattcCccaataagtaccagcctctt	3	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140730670C>A	uc003ljo.1	+	1	843	c.843C>A	c.(841-843)TCC>TCA	p.S281S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.S281S	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	281	Extracellular (Potential).|Cadherin 3.				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)			TCCTCAATTCCCCAATAAGTA	0.478													A	140730670	C	A	140730670	2	1	104	1	0	0	0	0	0	0	0	1	11562	610	22	5		5	PCDHGB1	5	140730670	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	396	140730670	40184590	2482	69096											
PCDHGB1	56104	broad.mit.edu	37	chr5	140731944	140731944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcctcgcggtgattctagCgatcgccctgcgcctgcgac	11	16	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140731944C>T	uc003ljo.1	+	1	2117	c.2117C>T	c.(2116-2118)GCG>GTG	p.A706V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA4_uc003ljq.1_5'Flank|PCDHGB1_uc011daq.1_Missense_Mutation_p.A706V|PCDHGA4_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	706	Helical; (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)			GTGATTCTAGCGATCGCCCTG	0.617													T	140731944	C	T	140731944	3	4	104	1	0	0	0	0	1	0	0	0	11562	768	27	1	2119	1	PCDHGB1	5	140731944	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1274	140731944	40183316	2483	69097											
PCDHGA4	56111	broad.mit.edu	37	chr5	140734861	140734861	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaatcagggccgaacagattCtctactcggtgtttgaggag	12	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140734861C>A	uc003ljq.1	+	1	94	c.94C>A	c.(94-96)CTC>ATC	p.L32I	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.L32I	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	32	Cadherin 1.|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)			CGAACAGATTCTCTACTCGGT	0.642													A	140734861	C	A	140734861	3	1	104	1	0	0	0	0	1	0	0	0	11556	913	32	5	96	5	PCDHGA4	5	140734861	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2917	140734861	40180399	2484	69098											
PCDHGB2	56103	broad.mit.edu	37	chr5	140740020	140740020	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctctgtgtgttctggatttCgatactgtcgctgaaaatcc	9	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140740020C>T	uc003ljs.1	+	1	318	c.318C>T	c.(316-318)TTC>TTT	p.F106F	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Silent_p.F106F	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	106	Extracellular (Potential).|Cadherin 1.				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)			TTCTGGATTTCGATACTGTCG	0.383													T	140740020	C	T	140740020	2	4	104	1	0	0	0	0	0	0	0	1	11563	883	31	1		1	PCDHGB2	5	140740020	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5159	140740020	40175240	2485	69099											
PCDHGB3	56102	broad.mit.edu	37	chr5	140750426	140750426	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagccacatttgccctggaAtctgcgcaagatcctgatgt	11	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140750426A>G	uc003ljw.1	+	1	465	c.465A>G	c.(463-465)GAA>GAG	p.E155E	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc011dat.1_Silent_p.E155E	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	155	Extracellular (Potential).|Cadherin 2.				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)			TTGCCCTGGAATCTGCGCAAG	0.498													G	140750426	A	G	140750426	2	3	104	1	0	0	0	0	0	0	0	1	11564	98	4	3		3	PCDHGB3	5	140750426	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	10406	140750426	40164834	2486	69100											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751953	140751953	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcatgctgcacctaatcttCgcagatagcttgcaagagat	9	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140751953C>T	uc003ljw.1	+	1	1992	c.1992C>T	c.(1990-1992)TTC>TTT	p.F664F	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Silent_p.F664F|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	664	Extracellular (Potential).|Cadherin 6.				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)			ACCTAATCTTCGCAGATAGCT	0.607													T	140751953	C	T	140751953	2	4	104	1	0	0	0	0	0	0	0	1	11564	883	31	1		1	PCDHGB3	5	140751953	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1527	140751953	40163307	2487	69101											
PCDHGB3	56102	broad.mit.edu	37	chr5	140752194	140752194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagttctccccacctacagcGaaaggactttgccttattcc	7	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140752194G>A	uc003ljw.1	+	1	2233	c.2233G>A	c.(2233-2235)GAA>AAA	p.E745K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.E745K|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	745	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTACAGCGAAAGGACTTT	0.512													A	140752194	G	A	140752194	3	1	104	1	0	0	0	0	1	0	0	0	11564	1059	37	1	2235	1	PCDHGB3	5	140752194	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	241	140752194	40163066	2488	69102											
PCDHGA7	56108	broad.mit.edu	37	chr5	140764273	140764273	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagattcaggccagaacgccTggctgtcatacctcctgctt	9	13	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140764273T>G	uc003lka.1	+	1	1807	c.1807T>G	c.(1807-1809)TGG>GGG	p.W603G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.W603G	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	603	Extracellular (Potential).|Cadherin 6.				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)			CCAGAACGCCTGGCTGTCATA	0.637													G	140764273	T	G	140764273	3	3	104	1	0	0	0	0	1	0	0	0	11559	1580	55	5	1809	5	PCDHGA7	5	140764273	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	12079	140764273	40150987	2489	69103											
PCDHGA7	56108	broad.mit.edu	37	chr5	140764319	140764319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgagccaggactctttgCggttgggctgtacacgggcg	16	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140764319C>T	uc003lka.1	+	1	1853	c.1853C>T	c.(1852-1854)GCG>GTG	p.A618V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.A618V	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	618	Extracellular (Potential).|Cadherin 6.				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)			GGACTCTTTGCGGTTGGGCTG	0.642													T	140764319	C	T	140764319	3	4	104	1	0	0	0	0	1	0	0	0	11559	768	27	1	1855	1	PCDHGA7	5	140764319	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	46	140764319	40150941	2490	69104											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769585	140769585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattctggccattgccttgCgcctgcgacgctcctccagc	10	16	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140769585C>T	uc003lkc.1	+	1	2134	c.2134C>T	c.(2134-2136)CGC>TGC	p.R712C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.R712C	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	712	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|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)			CATTGCCTTGCGCCTGCGACG	0.607													T	140769585	C	T	140769585	3	4	104	1	0	0	0	0	1	0	0	0	11565	768	27	1	2136	1	PCDHGB4	5	140769585	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5266	140769585	40145675	2491	69105											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769650	140769650	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtctctgtgttaaatcCgaatccgtggttccccccaa	8	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140769650C>T	uc003lkc.1	+	1	2199	c.2199C>T	c.(2197-2199)TCC>TCT	p.S733S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.S733S	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	733	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|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)			GTGTTAAATCCGAATCCGTGG	0.527													T	140769650	C	T	140769650	2	4	104	1	0	0	0	0	0	0	0	1	11565	639	23	1		1	PCDHGB4	5	140769650	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	65	140769650	40145610	2492	69106											
PCDHGA8	9708	broad.mit.edu	37	chr5	140772850	140772850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgttatccactcccagaagCtgttgacccggatgtgggcg	12	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140772850C>T	uc003lkd.1	+	1	1368	c.470C>T	c.(469-471)GCT>GTT	p.A157V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.A157V	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	157	Extracellular (Potential).|Cadherin 2.				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)			CTCCCAGAAGCTGTTGACCCG	0.488													T	140772850	C	T	140772850	3	4	104	1	0	0	0	0	1	0	0	0	11560	797	28	2	472	2	PCDHGA8	5	140772850	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3200	140772850	40142410	2493	69107											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773459	140773459	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tagcccagtgttagaaaattCtcttcccgggacagtaattg	9	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140773459C>A	uc003lkd.1	+	1	1977	c.1079C>A	c.(1078-1080)TCT>TAT	p.S360Y	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.S360Y	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	360	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)			TTAGAAAATTCTCTTCCCGGG	0.408													A	140773459	C	A	140773459	3	1	104	1	0	0	0	0	1	0	0	0	11560	913	32	5	1081	5	PCDHGA8	5	140773459	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	609	140773459	40141801	2494	69108											
PCDHGB5	56101	broad.mit.edu	37	chr5	140779267	140779267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgagcagctgcgcaccttcGaactcacactacaggcccgc	9	17	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140779267G>A	uc003lkf.1	+	1	1573	c.1573G>A	c.(1573-1575)GAA>AAA	p.E525K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.E525K	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	525	Extracellular (Potential).|Cadherin 5.				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)			GCGCACCTTCGAACTCACACT	0.652													A	140779267	G	A	140779267	3	1	104	1	0	0	0	0	1	0	0	0	11566	1059	37	1	1575	1	PCDHGB5	5	140779267	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5808	140779267	40135993	2495	69109											
PCDHGB5	56101	broad.mit.edu	37	chr5	140779568	140779568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggagaggtgcgcacagCgcgtgccttgggcgacaggg	18	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140779568C>T	uc003lkf.1	+	1	1874	c.1874C>T	c.(1873-1875)GCG>GTG	p.A625V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.A625V|PCDHGA9_uc011dax.1_5'Flank|PCDHGA9_uc003lkh.1_5'Flank	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	625	Cadherin 6.|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)			GTGCGCACAGCGCGTGCCTTG	0.697													T	140779568	C	T	140779568	3	4	104	1	0	0	0	0	1	0	0	0	11566	768	27	1	1876	1	PCDHGB5	5	140779568	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	301	140779568	40135692	2496	69110											
PCDHGB6	56100	broad.mit.edu	37	chr5	140788389	140788389	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaccgggaagaacagagatCtcatagcttgatattgactg	11	7	1	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140788389C>A	uc003lkj.1	+	1	620	c.620C>A	c.(619-621)TCT>TAT	p.S207Y	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.S207Y	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	207	Extracellular (Potential).|Cadherin 2.				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)			GAACAGAGATCTCATAGCTTG	0.448													A	140788389	C	A	140788389	3	1	104	1	0	0	0	0	1	0	0	0	11567	913	32	5	622	5	PCDHGB6	5	140788389	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	8821	140788389	40126871	2497	69111											
PCDHGB6	56100	broad.mit.edu	37	chr5	140788952	140788952	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagacattccattcaagattTattcttcttccaataactac	2	11	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140788952T>C	uc003lkj.1	+	1	1183	c.1183T>C	c.(1183-1185)TAT>CAT	p.Y395H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.Y395H	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	395	Extracellular (Potential).|Cadherin 4.				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)			ATTCAAGATTTATTCTTCTTC	0.453													C	140788952	T	C	140788952	3	2	104	1	0	0	0	0	1	0	0	0	11567	1754	61	3	1185	3	PCDHGB6	5	140788952	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	563	140788952	40126308	2498	69112											
PCDHGB6	56100	broad.mit.edu	37	chr5	140789915	140789915	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccattgccttgcgcctgCgacgctctctcagccctgct	10	17	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140789915C>T	uc003lkj.1	+	1	2146	c.2146C>T	c.(2146-2148)CGA>TGA	p.R716*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Nonsense_Mutation_p.R716*|PCDHGA10_uc011day.1_5'Flank|PCDHGA10_uc003lkl.1_5'Flank	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	716	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGCGCCTGCGACGCTCTCT	0.577													T	140789915	C	T	140789915	4	4	104	1	0	0	0	0	0	1	0	0	11567	760	27	1	2148	1	PCDHGB6	5	140789915	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	963	140789915	40125345	2499	69113											
PCDHGA10	56106	broad.mit.edu	37	chr5	140793736	140793736	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagaagatggaggagcatatCttgcaactgcaaaagtgttg	12	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140793736C>A	uc003lkl.1	+	1	994	c.994C>A	c.(994-996)CTT>ATT	p.L332I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.L332I	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	332	Cadherin 3.|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)			AGGAGCATATCTTGCAACTGC	0.353													A	140793736	C	A	140793736	3	1	104	1	0	0	0	0	1	0	0	0	11551	913	32	5	996	5	PCDHGA10	5	140793736	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3821	140793736	40121524	2500	69114											
PCDHGA10	56106	broad.mit.edu	37	chr5	140794687	140794687	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaagcaaagcctcgtagtgGccgtccaggaccacggccag	12	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140794687G>T	uc003lkl.1	+	1	1945	c.1945G>T	c.(1945-1947)GCC>TCC	p.A649S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.A649S|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	649	Cadherin 6.|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)			CCTCGTAGTGGCCGTCCAGGA	0.706													T	140794687	G	T	140794687	3	4	104	1	0	0	0	0	1	0	0	0	11551	1203	42	5	1947	5	PCDHGA10	5	140794687	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	951	140794687	40120573	2501	69115											
PCDHGA11	56105	broad.mit.edu	37	chr5	140801986	140801986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccttttaaattagaaaagActtatggaaattattacaaa	5	4	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140801986A>G	uc003lkq.1	+	1	1450	c.1192A>G	c.(1192-1194)ACT>GCT	p.T398A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.T398A|PCDHGA11_uc003lkp.1_Missense_Mutation_p.T398A	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	398	Extracellular (Potential).|Cadherin 4.				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)			ATTAGAAAAGACTTATGGAAA	0.403													G	140801986	A	G	140801986	3	3	104	1	0	0	0	0	1	0	0	0	11552	275	10	3	1194	3	PCDHGA11	5	140801986	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	7299	140801986	40113274	2502	69116											
PCDHGA11	56105	broad.mit.edu	37	chr5	140802023	140802023	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaattgataacaagcagagTgctggacagggagttggtcc	13	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140802023T>C	uc003lkq.1	+	1	1487	c.1229T>C	c.(1228-1230)GTG>GCG	p.V410A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.V410A|PCDHGA11_uc003lkp.1_Missense_Mutation_p.V410A	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	410	Extracellular (Potential).|Cadherin 4.				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)			ACAAGCAGAGTGCTGGACAGG	0.428													C	140802023	T	C	140802023	3	2	104	1	0	0	0	0	1	0	0	0	11552	1696	59	3	1231	3	PCDHGA11	5	140802023	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	37	140802023	40113237	2503	69117											
PCDHGA11	56105	broad.mit.edu	37	chr5	140802987	140802987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcaggcttctgaaggCgggttggcaggtatgcccac	15	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140802987C>T	uc003lkq.1	+	1	2451	c.2193C>T	c.(2191-2193)GGC>GGT	p.G731G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Silent_p.G731G|PCDHGA11_uc003lkp.1_Intron|PCDHGB8P_uc011daz.1_5'Flank	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	731	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTGAAGGCGGGTTGGCAG	0.587													T	140802987	C	T	140802987	2	4	104	1	0	0	0	0	0	0	0	1	11552	755	27	1		1	PCDHGA11	5	140802987	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	964	140802987	40112273	2504	69118											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811351	140811351	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgttctggacgtgaacgAcaatgccccagaagtggtcc	11	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140811351A>G	uc003lkt.1	+	1	1194	c.1025A>G	c.(1024-1026)GAC>GGC	p.D342G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.D342G	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	342	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGTGAACGACAATGCCCCA	0.493													G	140811351	A	G	140811351	3	3	104	1	0	0	0	0	1	0	0	0	11553	275	10	3	1027	3	PCDHGA12	5	140811351	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	8364	140811351	40103909	2505	69119											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812460	140812460	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccttcgtcatcttgctgCtggcgctcaggctgcggcgc	14	14	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140812460C>T	uc003lkt.1	+	1	2303	c.2134C>T	c.(2134-2136)CTG>TTG	p.L712L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.L712L	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	712	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCTTGCTGCTGGCGCTCAG	0.647													T	140812460	C	T	140812460	2	4	104	1	0	0	0	0	0	0	0	1	11553	796	28	2		2	PCDHGA12	5	140812460	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1109	140812460	40102800	2506	69120											
PCDHGC4	56098	broad.mit.edu	37	chr5	140865298	140865298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggatgtgaagaagcgcagCgacggcagcctggtcccaga	15	11	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140865298C>T	uc003lky.1	+	1	558	c.558C>T	c.(556-558)AGC>AGT	p.S186S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Silent_p.S186S	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	186	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGCGCAGCGACGGCAGCC	0.557													T	140865298	C	T	140865298	2	4	104	1	0	0	0	0	0	0	0	1	11570	767	27	1		1	PCDHGC4	5	140865298	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	52838	140865298	40049962	2507	69121											
PCDHGC4	56098	broad.mit.edu	37	chr5	140866394	140866394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttagcagcactgtaacagttCgtctatttgtgctggacctc	9	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140866394C>T	uc003lky.1	+	1	1654	c.1654C>T	c.(1654-1656)CGT>TGT	p.R552C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.R552C|PCDHGC5_uc011dbc.1_5'Flank|PCDHGC5_uc003lla.1_5'Flank	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	552	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTAACAGTTCGTCTATTTGT	0.567													T	140866394	C	T	140866394	3	4	104	1	0	0	0	0	1	0	0	0	11570	884	31	1	1656	1	PCDHGC4	5	140866394	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1096	140866394	40048866	2508	69122											
DIAPH1	1729	broad.mit.edu	37	chr5	140951552	140951552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagttcattgttctcaaagCggtcctccttcacctttgtc	6	12	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:140951552C>T	uc003llb.3	-	17	2555	c.2414G>A	c.(2413-2415)CGC>CAC	p.R805H	DIAPH1_uc003llc.3_Missense_Mutation_p.R796H|DIAPH1_uc010jgc.1_Missense_Mutation_p.R244H	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	805	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCTCAAAGCGGTCCTCCTT	0.498													T	140951552	C	T	140951552	3	4	104	1	0	0	0	0	1	0	0	0	4518	768	27	1	1452	1	DIAPH1	5	140951552	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	85158	140951552	39963708	2509	69123											
RELL2	285613	broad.mit.edu	37	chr5	141019684	141019684	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagccccaggtcctagccaGccccccagtacagaatggag	10	16	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:141019684G>T	uc003lli.2	+	6	1549	c.701G>T	c.(700-702)AGC>ATC	p.S234I	RELL2_uc003llh.2_Missense_Mutation_p.S234I|RELL2_uc003llg.2_Missense_Mutation_p.S168I|RELL2_uc010jgf.2_Missense_Mutation_p.S168I|FCHSD1_uc010jgg.2_3'UTR|FCHSD1_uc003llj.2_RNA|FCHSD1_uc003llk.2_3'UTR	NM_001130029	NP_001123501	Q8NC24	RELL2_HUMAN	RELT-like 2	234						integral to membrane|plasma membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTAGCCAGCCCCCCAGTA	0.662													T	141019684	G	T	141019684	3	4	104	1	0	0	0	0	1	0	0	0	13219	971	34	5	719	5	RELL2	5	141019684	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	68132	141019684	39895576	2510	69124											
PCDH1	5097	broad.mit.edu	37	chr5	141244951	141244951	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctggtggaatgtgtattcGatttctgcattggcaccttg	12	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:141244951G>A	uc003llq.2	-	3	1062	c.945C>T	c.(943-945)ATC>ATT	p.I315I	PCDH1_uc003llp.2_Silent_p.I315I|PCDH1_uc011dbf.1_Silent_p.I293I	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	315	Extracellular (Potential).|Cadherin 3.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ATGTGTATTCGATTTCTGCAT	0.483													A	141244951	G	A	141244951	2	1	104	1	0	0	0	0	0	0	0	1	11506	1048	37	1		1	PCDH1	5	141244951	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	225267	141244951	39670309	2511	69125											
PCDH12	51294	broad.mit.edu	37	chr5	141335704	141335704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaggctggcttttccatcGctgagcacaggctggaccac	13	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:141335704G>A	uc003llx.2	-	1	2924	c.1713C>T	c.(1711-1713)AGC>AGT	p.S571S		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	571	Extracellular (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTTCCATCGCTGAGCACAG	0.602													A	141335704	G	A	141335704	2	1	104	1	0	0	0	0	0	0	0	1	11510	1078	38	1		1	PCDH12	5	141335704	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	90753	141335704	39579556	2512	69126											
PCDH12	51294	broad.mit.edu	37	chr5	141336702	141336702	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcaaacgcagggctattgtCattggagtccaagacgttga	12	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:141336702C>A	uc003llx.2	-	1	1926	c.715G>T	c.(715-717)GAC>TAC	p.D239Y		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	239	Extracellular (Potential).|Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTATTGTCATTGGAGTCC	0.488													A	141336702	C	A	141336702	3	1	104	1	0	0	0	0	1	0	0	0	11510	826	29	5	2855	5	PCDH12	5	141336702	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	998	141336702	39578558	2513	69127											
PCDH12	51294	broad.mit.edu	37	chr5	141337067	141337067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatctccacatggatcagaGccaaatcccctgtggcaagc	10	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:141337067G>A	uc003llx.2	-	1	1561	c.350C>T	c.(349-351)GCT>GTT	p.A117V		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	117	Cadherin 1.|Extracellular (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGATCAGAGCCAAATCCCC	0.582													A	141337067	G	A	141337067	3	1	104	1	0	0	0	0	1	0	0	0	11510	971	34	2	3220	2	PCDH12	5	141337067	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	365	141337067	39578193	2514	69128											
NR3C1	2908	broad.mit.edu	37	chr5	142780030	142780030	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctattgaggtttgcaatGctttcttccaaaagctttaa	7	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:142780030G>A	uc003lmz.2	-	2	867	c.375C>T	c.(373-375)AGC>AGT	p.S125S	NR3C1_uc003lmy.2_Silent_p.S125S|NR3C1_uc003lna.2_Silent_p.S125S|NR3C1_uc003lnb.2_Silent_p.S125S|NR3C1_uc011dbk.1_Intron|NR3C1_uc003lnc.2_Silent_p.S125S|NR3C1_uc003lnd.2_Silent_p.S125S|NR3C1_uc003lne.2_Silent_p.S125S|NR3C1_uc003lnf.2_Silent_p.S125S|NR3C1_uc003lng.2_Silent_p.S125S|NR3C1_uc003lnh.2_Silent_p.S125S|NR3C1_uc003lni.2_Silent_p.S125S	NM_000176	NP_000167	P04150	GCR_HUMAN	glucocorticoid receptor isoform alpha	125	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	GGTTTGCAATGCTTTCTTCCA	0.488													A	142780030	G	A	142780030	2	1	104	1	0	0	0	0	0	0	0	1	10630	1310	46	2		2	NR3C1	5	142780030	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1442963	142780030	38135230	2515	69129											
KCTD16	57528	broad.mit.edu	37	chr5	143586725	143586725	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaaggaagcgacacaagaAtctgccccccttcctccctg	7	18	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:143586725A>C	uc003lnm.1	+	3	1077	c.448A>C	c.(448-450)ATC>CTC	p.I150L	KCTD16_uc003lnn.1_Missense_Mutation_p.I150L	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	potassium channel tetramerisation domain	150						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(2)|ovary(1)|skin(1)	4		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CGACACAAGAATCTGCCCCCC	0.547													C	143586725	A	C	143586725	3	2	104	1	0	0	0	0	1	0	0	0	8103	101	4	5	450	5	KCTD16	5	143586725	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	806695	143586725	37328535	2516	69130											
TCERG1	10915	broad.mit.edu	37	chr5	145886637	145886637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatactcgtaggaccctccGaaaagatcaccgctgggaat	10	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:145886637G>A	uc003lob.2	+	19	2817	c.2777G>A	c.(2776-2778)CGA>CAA	p.R926Q	TCERG1_uc003loc.2_Missense_Mutation_p.R905Q	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	926	FF 4.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGACCCTCCGAAAAGATCAC	0.328													A	145886637	G	A	145886637	3	1	104	1	0	0	0	0	1	0	0	0	15682	1058	37	1	2851	1	TCERG1	5	145886637	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2299912	145886637	35028623	2517	69131											
PPP2R2B	5521	broad.mit.edu	37	chr5	146070775	146070775	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggcctcttatcacgctcGctgactttccacagcttcac	6	16	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:146070775G>A	uc003loe.2	-	4	888	c.363C>T	c.(361-363)AGC>AGT	p.S121S	PPP2R2B_uc010jgm.2_Silent_p.S110S|PPP2R2B_uc003log.3_Silent_p.S121S|PPP2R2B_uc003lof.3_Silent_p.S121S|PPP2R2B_uc003loi.3_Silent_p.S124S|PPP2R2B_uc003loh.3_Silent_p.S121S|PPP2R2B_uc003loj.3_Silent_p.S101S|PPP2R2B_uc003lok.3_Silent_p.S110S|PPP2R2B_uc011dbu.1_Silent_p.S127S|PPP2R2B_uc011dbv.1_Silent_p.S179S	NM_004576	NP_004567	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	121	WD 2.				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)|prostate(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TATCACGCTCGCTGACTTTCC	0.507													A	146070775	G	A	146070775	2	1	104	1	0	0	0	0	0	0	0	1	12385	1078	38	1		1	PPP2R2B	5	146070775	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	184138	146070775	34844485	2518	69132											
DPYSL3	1809	broad.mit.edu	37	chr5	146778797	146778797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacagccacgaactggttttCgtccattttccctgtggcct	8	14	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:146778797C>T	uc003lon.1	-	11	1239	c.1129G>A	c.(1129-1131)GAA>AAA	p.E377K	DPYSL3_uc003loo.2_Missense_Mutation_p.E491K	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	377					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTGGTTTTCGTCCATTTTC	0.423													T	146778797	C	T	146778797	3	4	104	1	0	0	0	0	1	0	0	0	4748	893	31	1	599	1	DPYSL3	5	146778797	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	708022	146778797	34136463	2519	69133											
JAKMIP2	9832	broad.mit.edu	37	chr5	147020340	147020340	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatggatgatgtctctgaaTccatagagtcctcatcatag	8	10	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:147020340T>G	uc003loq.1	-	9	1710	c.1328A>C	c.(1327-1329)GAT>GCT	p.D443A	JAKMIP2_uc011dbx.1_Missense_Mutation_p.D401A|JAKMIP2_uc003lor.1_Missense_Mutation_p.D443A|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.D443A	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	443						Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCTCTGAATCCATAGAGTC	0.428													G	147020340	T	G	147020340	3	3	104	1	0	0	0	0	1	0	0	0	7941	1435	50	5	1156	5	JAKMIP2	5	147020340	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	241543	147020340	33894920	2520	69134											
FBXO38	81545	broad.mit.edu	37	chr5	147803583	147803583	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaaatgagatggaagacatCgtccaagaagatggagaggt	13	4	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:147803583C>T	uc003lpf.1	+	13	1761	c.1641C>T	c.(1639-1641)ATC>ATT	p.I547I	FBXO38_uc003lpg.1_Silent_p.I547I|FBXO38_uc003lph.2_Silent_p.I547I	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	547						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAAGACATCGTCCAAGAAG	0.433													T	147803583	C	T	147803583	2	4	104	1	0	0	0	0	0	0	0	1	5746	874	31	1		1	FBXO38	5	147803583	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	783243	147803583	33111677	2521	69135											
HTR4	3360	broad.mit.edu	37	chr5	147902810	147902810	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attatagggagaaaagaaatAaacgtggggatgacccagca	12	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:147902810A>G	uc003lpn.2	-	5	617	c.453T>C	c.(451-453)TTT>TTC	p.F151F	HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Silent_p.F151F|HTR4_uc003lpj.1_Silent_p.F151F|HTR4_uc003lpk.2_Silent_p.F151F|HTR4_uc011dby.1_Silent_p.F151F|HTR4_uc003lpl.2_Silent_p.F151F|HTR4_uc003lpm.2_Silent_p.F151F|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Silent_p.F151F	NM_000870	NP_000861	Q13639	5HT4R_HUMAN	serotonin 5-HT4 receptor isoform b	151	Helical; Name=4; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GAAAAGAAATAAACGTGGGGA	0.463													G	147902810	A	G	147902810	2	3	104	1	0	0	0	0	0	0	0	1	7449	359	13	3		3	HTR4	5	147902810	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	99227	147902810	33012450	2522	69136											
SH3TC2	79628	broad.mit.edu	37	chr5	148406848	148406848	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtggctcaagcacatccAaagccttcttggcctggctg	11	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:148406848A>G	uc003lpu.2	-	11	2599	c.2447T>C	c.(2446-2448)TTG>TCG	p.L816S	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.L460S|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.L363S|SH3TC2_uc010jgx.2_Missense_Mutation_p.L809S|SH3TC2_uc003lpv.1_Missense_Mutation_p.L363S|SH3TC2_uc011dbz.1_Missense_Mutation_p.L701S	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	816							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCACATCCAAAGCCTTCTT	0.547													G	148406848	A	G	148406848	3	3	104	1	0	0	0	0	1	0	0	0	14262	131	5	3	1447	3	SH3TC2	5	148406848	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	504038	148406848	32508412	2523	69137											
AFAP1L1	134265	broad.mit.edu	37	chr5	148679892	148679892	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccactcggggcccagcttCgtggaatccctctttgaaga	10	14	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:148679892C>T	uc003lqh.2	+	3	335	c.204C>T	c.(202-204)TTC>TTT	p.F68F	AFAP1L1_uc003lqg.3_Silent_p.F68F|AFAP1L1_uc010jgy.2_Silent_p.F68F	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	68							protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCCAGCTTCGTGGAATCCC	0.562													T	148679892	C	T	148679892	2	4	104	1	0	0	0	0	0	0	0	1	354	883	31	1		1	AFAP1L1	5	148679892	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	273044	148679892	32235368	2524	69138											
AFAP1L1	134265	broad.mit.edu	37	chr5	148687128	148687128	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctgcggaaaaagcgtttCgggcagtgggccaagcagct	15	10	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:148687128C>T	uc003lqh.2	+	7	830	c.699C>T	c.(697-699)TTC>TTT	p.F233F	AFAP1L1_uc003lqg.3_Silent_p.F233F|AFAP1L1_uc010jgy.2_Silent_p.F233F	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	233	PH 1.						protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAGCGTTTCGGGCAGTGGG	0.622													T	148687128	C	T	148687128	2	4	104	1	0	0	0	0	0	0	0	1	354	883	31	1		1	AFAP1L1	5	148687128	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7236	148687128	32228132	2525	69139											
AFAP1L1	134265	broad.mit.edu	37	chr5	148699965	148699965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attttctagatatgcaagatCctgccagaatcagtggcctg	9	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:148699965C>T	uc003lqh.2	+	14	1768	c.1637C>T	c.(1636-1638)TCC>TTC	p.S546F	AFAP1L1_uc010jgy.2_Missense_Mutation_p.S546F|AFAP1L1_uc003lqi.1_Missense_Mutation_p.S161F	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	546							protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGCAAGATCCTGCCAGAAT	0.343													T	148699965	C	T	148699965	3	4	104	1	0	0	0	0	1	0	0	0	354	855	30	4	1691	4	AFAP1L1	5	148699965	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	12837	148699965	32215295	2526	69140											
PCYOX1L	78991	broad.mit.edu	37	chr5	148746955	148746955	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagccggggcccaaggcagcCtgtggtctgtggaaggaggc	18	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:148746955C>T	uc003lqk.2	+	5	777	c.715C>T	c.(715-717)CTG>TTG	p.L239L	PCYOX1L_uc003lql.2_Silent_p.L222L|PCYOX1L_uc010jgz.2_Silent_p.L163L|PCYOX1L_uc003lqm.2_Silent_p.L121L|PCYOX1L_uc003lqn.2_Silent_p.L149L	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like precursor	239					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAGGCAGCCTGTGGTCTGT	0.602											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	148746955	C	T	148746955	2	4	104	1	0	0	0	0	0	0	0	1	11609	680	24	4		4	PCYOX1L	5	148746955	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	46990	148746955	32168305	2527	69141											
PDE6A	5145	broad.mit.edu	37	chr5	149324052	149324052	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtcccgcaggagatcaAagatgatttcgctctcctcc	9	12	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:149324052A>C	uc003lrg.3	-	1	305	c.185T>G	c.(184-186)TTT>TGT	p.F62C		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A	62					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAGGAGATCAAAGATGATTTC	0.547													C	149324052	A	C	149324052	3	2	104	1	0	0	0	0	1	0	0	0	11645	14	1	5	2485	5	PDE6A	5	149324052	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	577097	149324052	31591208	2528	69142											
CAMK2A	815	broad.mit.edu	37	chr5	149607839	149607839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaggctgtcatgccagggtCgcacatcttcctgggggaaa	14	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:149607839C>T	uc003lru.2	-	16	1335	c.1120G>A	c.(1120-1122)GAC>AAC	p.D374N	CAMK2A_uc003lrs.2_Missense_Mutation_p.D85N|CAMK2A_uc003lrt.2_Missense_Mutation_p.D385N	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II	374					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGCCAGGGTCGCACATCTTC	0.502													T	149607839	C	T	149607839	3	4	104	1	0	0	0	0	1	0	0	0	2599	884	31	1	328	1	CAMK2A	5	149607839	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	283787	149607839	31307421	2529	69143											
DCTN4	51164	broad.mit.edu	37	chr5	150133162	150133162	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaagctgtgtggagatgctCgtggcccgagtagagagggt	19	6	0	2	rs144113005	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:150133162C>T	uc003lsv.2	-	3	366	c.264G>A	c.(262-264)ACG>ACA	p.T88T	DCTN4_uc003lsu.2_Silent_p.T31T|DCTN4_uc010jhi.2_Silent_p.T88T|DCTN4_uc010jhj.2_RNA|DCTN4_uc011dck.1_Silent_p.T31T	NM_016221	NP_057305	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62) isoform b	88						centrosome|nucleus	protein N-terminus binding			central_nervous_system(1)	1		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAGATGCTCGTGGCCCGAG	0.478													T	150133162	C	T	150133162	2	4	104	1	0	0	0	0	0	0	0	1	4309	871	31	1		1	DCTN4	5	150133162	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	525323	150133162	30782098	2530	69144											
TNIP1	10318	broad.mit.edu	37	chr5	150418747	150418747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtacttgaccttttggcGcagctccttggcctctgctg	11	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:150418747G>A	uc003ltf.2	-	12	1763	c.1174C>T	c.(1174-1176)CGC>TGC	p.R392C	TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_Missense_Mutation_p.R392C|TNIP1_uc010jhn.2_Missense_Mutation_p.R392C|TNIP1_uc011dco.1_Missense_Mutation_p.R392C|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_Missense_Mutation_p.R392C|TNIP1_uc003ltg.2_Missense_Mutation_p.R339C|TNIP1_uc003ltj.2_Missense_Mutation_p.R392C|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_Missense_Mutation_p.R339C|TNIP1_uc010jhp.1_Missense_Mutation_p.R339C|TNIP1_uc010jhr.1_Missense_Mutation_p.R392C|TNIP1_uc003ltk.2_Missense_Mutation_p.R392C	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	392	Potential.|Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTTTTGGCGCAGCTCCTTG	0.582													A	150418747	G	A	150418747	3	1	104	1	0	0	0	0	1	0	0	0	16311	1087	38	1	764	1	TNIP1	5	150418747	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	285585	150418747	30496513	2531	69145											
SLC36A2	153201	broad.mit.edu	37	chr5	150704958	150704958	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgacgatggacattcccaaaGacaggatggctgggaagtgg	15	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:150704958G>T	uc003lty.2	-	8	1029	c.899C>A	c.(898-900)TCT>TAT	p.S300Y	GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Missense_Mutation_p.S102Y|SLC36A2_uc010jhv.2_Missense_Mutation_p.S300Y	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	solute carrier family 36, member 2	300	Helical; (Potential).				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATTCCCAAAGACAGGATGGC	0.443													T	150704958	G	T	150704958	3	4	104	1	0	0	0	0	1	0	0	0	14594	942	33	5	564	5	SLC36A2	5	150704958	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	286211	150704958	30210302	2532	69146											
SLC36A1	206358	broad.mit.edu	37	chr5	150838484	150838484	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaccagcgctttggtcaaaGcaatagcacaacgtgagtag	10	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:150838484G>T	uc003luc.2	+	2	348	c.131G>T	c.(130-132)AGC>ATC	p.S44I	GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Missense_Mutation_p.S44I|SLC36A1_uc010jhw.1_Missense_Mutation_p.S44I	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 member 1	44	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			skin(1)	1		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	TTTGGTCAAAGCAATAGCACA	0.552													T	150838484	G	T	150838484	3	4	104	1	0	0	0	0	1	0	0	0	14593	971	34	5	133	5	SLC36A1	5	150838484	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	133526	150838484	30076776	2533	69147											
FAT2	2196	broad.mit.edu	37	chr5	150924751	150924751	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcctttctgtcctgcaagttCtccttcacagctgcccagta	7	15	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:150924751C>T	uc003lue.3	-	9	5950	c.5937G>A	c.(5935-5937)GAG>GAA	p.E1979E	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1979	Extracellular (Potential).|Cadherin 17.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGCAAGTTCTCCTTCACAG	0.453													T	150924751	C	T	150924751	2	4	104	1	0	0	0	0	0	0	0	1	5690	912	32	4		4	FAT2	5	150924751	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	86267	150924751	29990509	2534	69148											
FAT2	2196	broad.mit.edu	37	chr5	150930303	150930303	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatgaggcttttgcccttgtCttgatctatggcctggactc	11	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:150930303C>T	uc003lue.3	-	7	4439	c.4426G>A	c.(4426-4428)GAC>AAC	p.D1476N	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1476	Extracellular (Potential).|Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGCCCTTGTCTTGATCTATG	0.562													T	150930303	C	T	150930303	3	4	104	1	0	0	0	0	1	0	0	0	5690	913	32	4	8691	4	FAT2	5	150930303	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5552	150930303	29984957	2535	69149											
FAT2	2196	broad.mit.edu	37	chr5	150946848	150946848	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgagctgaagaaaaatggAcacttccttctcccggcgaa	9	12	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:150946848A>G	uc003lue.3	-	1	1658	c.1645T>C	c.(1645-1647)TCC>CCC	p.S549P	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.S549P	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	549	Cadherin 4.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAAAAATGGACACTTCCTTC	0.473													G	150946848	A	G	150946848	3	3	104	1	0	0	0	0	1	0	0	0	5690	275	10	3	11496	3	FAT2	5	150946848	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	16545	150946848	29968412	2536	69150											
FAT2	2196	broad.mit.edu	37	chr5	150948206	150948206	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgctgctctttgtccttattCttaggaagcagaagttgccc	9	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:150948206C>A	uc003lue.3	-	1	300	c.287G>T	c.(286-288)AGA>ATA	p.R96I	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.R96I	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	96	Extracellular (Potential).|Cadherin 1.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTCCTTATTCTTAGGAAGCA	0.507													A	150948206	C	A	150948206	3	1	104	1	0	0	0	0	1	0	0	0	5690	913	32	5	12854	5	FAT2	5	150948206	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1358	150948206	29967054	2537	69151											
GLRA1	2741	broad.mit.edu	37	chr5	151208496	151208496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctaccttgtgatgtctccGcttcctcctgaatcggagca	9	14	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:151208496G>A	uc003lut.2	-	8	1332	c.1045C>T	c.(1045-1047)CGG>TGG	p.R349W	GLRA1_uc003lur.2_Missense_Mutation_p.R349W|GLRA1_uc003lus.2_Missense_Mutation_p.R266W	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	glycine receptor, alpha 1 isoform 1 precursor	349	Cytoplasmic (Probable).				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			ovary(1)|central_nervous_system(1)	2		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGATGTCTCCGCTTCCTCCTG	0.463													A	151208496	G	A	151208496	3	1	104	1	0	0	0	0	1	0	0	0	6454	1086	38	1	336	1	GLRA1	5	151208496	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	260290	151208496	29706764	2538	69152											
FAM114A2	10827	broad.mit.edu	37	chr5	153406049	153406049	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacttttagagtctctaattCttctccactcagagaattaa	4	9	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:153406049C>A	uc003lvb.2	-	8	1411	c.823G>T	c.(823-825)GAA>TAA	p.E275*	FAM114A2_uc003lvc.2_Nonsense_Mutation_p.E275*|FAM114A2_uc003lvd.2_Nonsense_Mutation_p.E275*|FAM114A2_uc003lve.2_Nonsense_Mutation_p.E91*|FAM114A2_uc011dda.1_Nonsense_Mutation_p.E205*	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	hypothetical protein LOC10827	275	Potential.						purine nucleotide binding				0						GTCTCTAATTCTTCTCCACTC	0.318													A	153406049	C	A	153406049	4	1	104	1	0	0	0	0	0	1	0	0	5404	922	32	5	722	5	FAM114A2	5	153406049	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2197553	153406049	27509211	2539	69153											
LARP1	23367	broad.mit.edu	37	chr5	154181870	154181870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcgtgccaagatgagcgccGaactggccaaggtcattaat	12	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:154181870G>A	uc003lvp.2	+	11	2449	c.2020G>A	c.(2020-2022)GAA>AAA	p.E674K	LARP1_uc003lvo.2_Missense_Mutation_p.E597K|LARP1_uc010jie.1_Missense_Mutation_p.E469K	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	674							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GATGAGCGCCGAACTGGCCAA	0.552													A	154181870	G	A	154181870	3	1	104	1	0	0	0	0	1	0	0	0	8628	1059	37	1	1831	1	LARP1	5	154181870	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	775821	154181870	26733390	2540	69154											
LARP1	23367	broad.mit.edu	37	chr5	154182861	154182861	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctctgcagcaagaagtcgaGaacttcaaaaaggtcaatat	8	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:154182861G>T	uc003lvp.2	+	12	2550	c.2121G>T	c.(2119-2121)GAG>GAT	p.E707D	LARP1_uc003lvo.2_Missense_Mutation_p.E630D|LARP1_uc010jie.1_Missense_Mutation_p.E502D	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	707							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAGAAGTCGAGAACTTCAAAA	0.517													T	154182861	G	T	154182861	3	4	104	1	0	0	0	0	1	0	0	0	8628	933	33	5	1936	5	LARP1	5	154182861	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	991	154182861	26732399	2541	69155											
LARP1	23367	broad.mit.edu	37	chr5	154183768	154183768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctaacctttgcagatgcctcGaaaaagaaagacaagacaca	7	10	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:154183768G>A	uc003lvp.2	+	14	2876	c.2447G>A	c.(2446-2448)CGA>CAA	p.R816Q	LARP1_uc003lvo.2_Missense_Mutation_p.R739Q	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	816							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGATGCCTCGAAAAAGAAAG	0.507													A	154183768	G	A	154183768	3	1	104	1	0	0	0	0	1	0	0	0	8628	1058	37	1	2270	1	LARP1	5	154183768	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	907	154183768	26731492	2542	69156											
FAM71B	153745	broad.mit.edu	37	chr5	156589906	156589906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctgattcttgtcccccGctctcctgcggtgactttca	7	15	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:156589906G>A	uc003lwn.2	-	2	1470	c.1370C>T	c.(1369-1371)GCG>GTG	p.A457V		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	457	Bipartite nuclear localization signal (Potential).					nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTGTCCCCCGCTCTCCTGCG	0.488													A	156589906	G	A	156589906	3	1	104	1	0	0	0	0	1	0	0	0	5608	1087	38	1	451	1	FAM71B	5	156589906	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2406138	156589906	24325354	2543	69157											
CYFIP2	26999	broad.mit.edu	37	chr5	156734839	156734839	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaactggatgccaagaagaGaattaatcttagcaaaattg	8	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:156734839G>T	uc003lwq.2	+	11	1004	c.866G>T	c.(865-867)AGA>ATA	p.R289I	CYFIP2_uc011ddn.1_Missense_Mutation_p.R263I|CYFIP2_uc011ddo.1_Missense_Mutation_p.R93I|CYFIP2_uc003lwr.2_Missense_Mutation_p.R289I|CYFIP2_uc003lws.2_Missense_Mutation_p.R289I|CYFIP2_uc003lwt.2_Missense_Mutation_p.R167I|CYFIP2_uc011ddp.1_Missense_Mutation_p.R23I	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	289					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCAAGAAGAGAATTAATCTT	0.458													T	156734839	G	T	156734839	3	4	104	1	0	0	0	0	1	0	0	0	4138	942	33	5	896	5	CYFIP2	5	156734839	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	144933	156734839	24180421	2544	69158											
CYFIP2	26999	broad.mit.edu	37	chr5	156747684	156747684	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtcctacaggcaattcgaaaGaccatctgtgactgggaggg	13	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:156747684G>T	uc003lwq.2	+	17	1683	c.1545G>T	c.(1543-1545)AAG>AAT	p.K515N	CYFIP2_uc011ddn.1_Missense_Mutation_p.K489N|CYFIP2_uc011ddo.1_Missense_Mutation_p.K319N|CYFIP2_uc003lwr.2_Missense_Mutation_p.K515N|CYFIP2_uc003lws.2_Missense_Mutation_p.K515N|CYFIP2_uc003lwt.2_Missense_Mutation_p.K393N|CYFIP2_uc011ddp.1_Missense_Mutation_p.K249N	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	515					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATTCGAAAGACCATCTGTG	0.542													T	156747684	G	T	156747684	3	4	104	1	0	0	0	0	1	0	0	0	4138	933	33	5	1599	5	CYFIP2	5	156747684	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	12845	156747684	24167576	2545	69159											
CYFIP2	26999	broad.mit.edu	37	chr5	156786115	156786115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggttatcagggcatcGctgtggtcatggaggaactg	15	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:156786115G>A	uc003lwq.2	+	26	2914	c.2776G>A	c.(2776-2778)GCT>ACT	p.A926T	CYFIP2_uc011ddn.1_Missense_Mutation_p.A900T|CYFIP2_uc011ddo.1_Missense_Mutation_p.A730T|CYFIP2_uc003lwr.2_Missense_Mutation_p.A926T|CYFIP2_uc003lws.2_Missense_Mutation_p.A926T|CYFIP2_uc003lwt.2_Missense_Mutation_p.A829T|CYFIP2_uc011ddp.1_Missense_Mutation_p.A660T	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	951					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCAGGGCATCGCTGTGGTCAT	0.483													A	156786115	G	A	156786115	3	1	104	1	0	0	0	0	1	0	0	0	4138	1087	38	1	2866	1	CYFIP2	5	156786115	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	38431	156786115	24129145	2546	69160											
RNF145	153830	broad.mit.edu	37	chr5	158596042	158596042	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcactgccaggattaacagCgttactccttctgtcatgcc	8	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:158596042C>T	uc003lxp.2	-	8	1273	c.960G>A	c.(958-960)ACG>ACA	p.T320T	RNF145_uc011ddy.1_Silent_p.T334T|RNF145_uc003lxo.1_Silent_p.T348T|RNF145_uc011ddz.1_Silent_p.T337T|RNF145_uc010jiq.1_Silent_p.T350T	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	320	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGATTAACAGCGTTACTCCTT	0.383													T	158596042	C	T	158596042	2	4	104	1	0	0	0	0	0	0	0	1	13447	755	27	1		1	RNF145	5	158596042	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1809927	158596042	22319218	2547	69161											
PWWP2A	114825	broad.mit.edu	37	chr5	159507740	159507740	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtaagggagcagcaggactCgtcactgtctgatgtaatag	13	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:159507740C>T	uc003lxv.3	-	3	1644	c.1587G>A	c.(1585-1587)ACG>ACA	p.T529T	PWWP2A_uc011dec.1_Intron	NM_052927	NP_443159	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A isoform a	Error:Variant_position_missing_in_Q96N64_after_alignment											0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCAGGACTCGTCACTGTCT	0.418													T	159507740	C	T	159507740	2	4	104	1	0	0	0	0	0	0	0	1	12845	871	31	1		1	PWWP2A	5	159507740	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	911698	159507740	21407520	2548	69162											
C1QTNF2	114898	broad.mit.edu	37	chr5	159781843	159781843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttgccaggaaagcccattCgtcccatcattcctgagggc	9	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:159781843C>T	uc003lyd.2	-	2	315	c.311G>A	c.(310-312)CGA>CAA	p.R104Q		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	59	Collagen-like.					collagen				skin(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAGCCCATTCGTCCCATCAT	0.662													T	159781843	C	T	159781843	3	4	104	1	0	0	0	0	1	0	0	0	1963	884	31	1	689	1	C1QTNF2	5	159781843	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	274103	159781843	21133417	2549	69163											
ATP10B	23120	broad.mit.edu	37	chr5	159992649	159992649	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccgtgccacatctctgttcGtggagtactgactcttccac	8	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:159992649G>C	uc003lym.1	-	26	5044	c.4197C>G	c.(4195-4197)CAC>CAG	p.H1399Q	ATP10B_uc010jit.1_Missense_Mutation_p.H649Q	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1399	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCTCTGTTCGTGGAGTACTG	0.557													C	159992649	G	C	159992649	3	2	104	1	0	0	0	0	1	0	0	0	1117	1136	40	5	192	5	ATP10B	5	159992649	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	210806	159992649	20922611	2550	69164											
ATP10B	23120	broad.mit.edu	37	chr5	159992842	159992842	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtctggggggagtttgTcaattttctgagcttttgag	13	4	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:159992842T>C	uc003lym.1	-	26	4851	c.4004A>G	c.(4003-4005)GAC>GGC	p.D1335G	ATP10B_uc010jit.1_Missense_Mutation_p.D585G	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1335	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGGAGTTTGTCAATTTTCTG	0.468													C	159992842	T	C	159992842	3	2	104	1	0	0	0	0	1	0	0	0	1117	1667	58	3	385	3	ATP10B	5	159992842	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	193	159992842	20922418	2551	69165											
GABRA6	2559	broad.mit.edu	37	chr5	161128750	161128750	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtttatctttccaaagatAcaatggaagtcagtagcagt	8	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:161128750A>G	uc003lyu.2	+	9	1671	c.1333A>G	c.(1333-1335)ACA>GCA	p.T445A	GABRA6_uc003lyv.2_Missense_Mutation_p.T216A	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	445					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCCAAAGATACAATGGAAGT	0.388										TCGA Ovarian(5;0.080)			G	161128750	A	G	161128750	3	3	104	1	0	0	0	0	1	0	0	0	6165	391	14	3	1367	3	GABRA6	5	161128750	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1135908	161128750	19786510	2552	69166											
GABRA1	2554	broad.mit.edu	37	chr5	161300284	161300284	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagtcagtggcccacaacatGaccatgcccaacaaactcct	6	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:161300284G>T	uc010jiw.2	+	6	885	c.417G>T	c.(415-417)ATG>ATT	p.M139I	GABRA1_uc010jix.2_Missense_Mutation_p.M139I|GABRA1_uc010jiy.2_Missense_Mutation_p.M139I|GABRA1_uc003lyx.3_Missense_Mutation_p.M139I|GABRA1_uc010jiz.2_Missense_Mutation_p.M139I|GABRA1_uc010jja.2_Missense_Mutation_p.M139I|GABRA1_uc010jjb.2_Missense_Mutation_p.M139I	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	139	Extracellular (Probable).			Missing (in Ref. 4; CAA31925).	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CCCACAACATGACCATGCCCA	0.473													T	161300284	G	T	161300284	3	4	104	1	0	0	0	0	1	0	0	0	6160	1290	45	5	431	5	GABRA1	5	161300284	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	171534	161300284	19614976	2553	69167											
GABRA1	2554	broad.mit.edu	37	chr5	161309607	161309607	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttatgaatggaccagagaGccagcacgctcagtggttgt	13	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:161309607G>A	uc010jiw.2	+	8	1071	c.603G>A	c.(601-603)GAG>GAA	p.E201E	GABRA1_uc010jix.2_Silent_p.E201E|GABRA1_uc010jiy.2_Silent_p.E201E|GABRA1_uc003lyx.3_Silent_p.E201E|GABRA1_uc010jiz.2_Silent_p.E201E|GABRA1_uc010jja.2_Silent_p.E201E|GABRA1_uc010jjb.2_Silent_p.E201E	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	201	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GGACCAGAGAGCCAGCACGCT	0.393													A	161309607	G	A	161309607	2	1	104	1	0	0	0	0	0	0	0	1	6160	962	34	2		2	GABRA1	5	161309607	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	9323	161309607	19605653	2554	69168											
GABRA1	2554	broad.mit.edu	37	chr5	161317999	161317999	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catgcataatgacagtgattCtctcacaagtctccttctgg	7	11	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:161317999C>A	uc010jiw.2	+	9	1267	c.799C>A	c.(799-801)CTC>ATC	p.L267I	GABRA1_uc010jix.2_Missense_Mutation_p.L267I|GABRA1_uc010jiy.2_Missense_Mutation_p.L267I|GABRA1_uc003lyx.3_Missense_Mutation_p.L267I|GABRA1_uc010jiz.2_Missense_Mutation_p.L267I|GABRA1_uc010jja.2_Missense_Mutation_p.L267I|GABRA1_uc010jjb.2_Missense_Mutation_p.L267I	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	267	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GACAGTGATTCTCTCACAAGT	0.418													A	161317999	C	A	161317999	3	1	104	1	0	0	0	0	1	0	0	0	6160	913	32	5	825	5	GABRA1	5	161317999	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	8392	161317999	19597261	2555	69169											
GABRA1	2554	broad.mit.edu	37	chr5	161324122	161324122	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctttctttctacagccaaaGaaagtaaaggatcctcttat	5	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:161324122G>T	uc010jiw.2	+	11	1533	c.1065G>T	c.(1063-1065)AAG>AAT	p.K355N	GABRA1_uc010jix.2_Missense_Mutation_p.K355N|GABRA1_uc010jiy.2_Missense_Mutation_p.K355N|GABRA1_uc003lyx.3_Missense_Mutation_p.K355N|GABRA1_uc010jiz.2_Missense_Mutation_p.K355N|GABRA1_uc010jja.2_Missense_Mutation_p.K355N|GABRA1_uc010jjb.2_Missense_Mutation_p.K355N	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	355	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TACAGCCAAAGAAAGTAAAGG	0.433													T	161324122	G	T	161324122	3	4	104	1	0	0	0	0	1	0	0	0	6160	933	33	5	1099	5	GABRA1	5	161324122	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	6123	161324122	19591138	2556	69170											
GABRA1	2554	broad.mit.edu	37	chr5	161324264	161324264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacctaaagaggtcaagcccGaaacaaaaccaccagaaccc	6	14	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:161324264G>A	uc010jiw.2	+	11	1675	c.1207G>A	c.(1207-1209)GAA>AAA	p.E403K	GABRA1_uc010jix.2_Missense_Mutation_p.E403K|GABRA1_uc010jiy.2_Missense_Mutation_p.E403K|GABRA1_uc003lyx.3_Missense_Mutation_p.E403K|GABRA1_uc010jiz.2_Missense_Mutation_p.E403K|GABRA1_uc010jja.2_Missense_Mutation_p.E403K|GABRA1_uc010jjb.2_Missense_Mutation_p.E403K	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	403	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GGTCAAGCCCGAAACAAAACC	0.473													A	161324264	G	A	161324264	3	1	104	1	0	0	0	0	1	0	0	0	6160	1059	37	1	1241	1	GABRA1	5	161324264	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	142	161324264	19590996	2557	69171											
GABRG2	2566	broad.mit.edu	37	chr5	161495013	161495013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaaaaaaaagcgatgagttCgccaaatatatggagcacag	9	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:161495013C>T	uc003lyz.3	+	1	366	c.8C>T	c.(7-9)TCG>TTG	p.S3L	GABRG2_uc010jjc.2_Missense_Mutation_p.S3L|GABRG2_uc003lyy.3_Missense_Mutation_p.S3L|GABRG2_uc011dej.1_5'UTR	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	3					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GCGATGAGTTCGCCAAATATA	0.453													T	161495013	C	T	161495013	3	4	104	1	0	0	0	0	1	0	0	0	6172	893	31	1	10	1	GABRG2	5	161495013	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	170749	161495013	19420247	2558	69172											
GABRG2	2566	broad.mit.edu	37	chr5	161530961	161530961	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgttgaagtgggcgacacaaGatcctggaggctttatcaat	12	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:161530961G>T	uc003lyz.3	+	6	1056	c.698G>T	c.(697-699)AGA>ATA	p.R233I	GABRG2_uc010jjc.2_Missense_Mutation_p.R273I|GABRG2_uc003lyy.3_Missense_Mutation_p.R233I|GABRG2_uc011dej.1_Missense_Mutation_p.R138I	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	233	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GGCGACACAAGATCCTGGAGG	0.413													T	161530961	G	T	161530961	3	4	104	1	0	0	0	0	1	0	0	0	6172	942	33	5	844	5	GABRG2	5	161530961	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	35948	161530961	19384299	2559	69173											
HMMR	3161	broad.mit.edu	37	chr5	162900198	162900198	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttttagtgtttcaatagagAaagaaaagattgatgaaaaa	9	1	1	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:162900198A>G	uc003lzf.2	+	8	843	c.661A>G	c.(661-663)AAA>GAA	p.K221E	HMMR_uc003lzh.2_Missense_Mutation_p.K222E|HMMR_uc003lzg.2_Missense_Mutation_p.K206E|HMMR_uc011dem.1_Missense_Mutation_p.K135E	NM_012484	NP_036616	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor isoform b	221						cell surface|cytoplasm	hyaluronic acid binding				0	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		TTCAATAGAGAAAGAAAAGAT	0.264													G	162900198	A	G	162900198	3	3	104	1	0	0	0	0	1	0	0	0	7242	247	9	3	694	3	HMMR	5	162900198	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1369237	162900198	18015062	2560	69174											
HMMR	3161	broad.mit.edu	37	chr5	162900450	162900450	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttagaagaaaatttgaaagAgaagaatgatgaaattttaa	9	0	0	7			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:162900450A>C	uc003lzf.2	+	9	970	c.788A>C	c.(787-789)GAG>GCG	p.E263A	HMMR_uc003lzh.2_Missense_Mutation_p.E264A|HMMR_uc003lzg.2_Missense_Mutation_p.E248A|HMMR_uc011dem.1_Missense_Mutation_p.E177A	NM_012484	NP_036616	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor isoform b	263						cell surface|cytoplasm	hyaluronic acid binding				0	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		AATTTGAAAGAGAAGAATGAT	0.308													C	162900450	A	C	162900450	3	2	104	1	0	0	0	0	1	0	0	0	7242	304	11	5	825	5	HMMR	5	162900450	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	252	162900450	18014810	2561	69175											
HMMR	3161	broad.mit.edu	37	chr5	162902491	162902491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgagtcttcatcagaagCtctgttcttttcaagaggaa	8	9	6	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:162902491C>T	uc003lzf.2	+	11	1260	c.1078C>T	c.(1078-1080)CTC>TTC	p.L360F	HMMR_uc003lzh.2_Missense_Mutation_p.L361F|HMMR_uc003lzg.2_Missense_Mutation_p.L345F|HMMR_uc011dem.1_Missense_Mutation_p.L274F	NM_012484	NP_036616	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor isoform b	360						cell surface|cytoplasm	hyaluronic acid binding				0	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		TCATCAGAAGCTCTGTTCTTT	0.353													T	162902491	C	T	162902491	3	4	104	1	0	0	0	0	1	0	0	0	7242	797	28	2	1123	2	HMMR	5	162902491	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2041	162902491	18012769	2562	69176											
ODZ2	57451	broad.mit.edu	37	chr5	167551866	167551866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttttcagttgattgcttgGatcccacctgctccagccac	7	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:167551866G>A	uc010jjd.2	+	11	2020	c.2020G>A	c.(2020-2022)GAT>AAT	p.D674N	ODZ2_uc003lzr.3_Missense_Mutation_p.D442N|ODZ2_uc003lzt.3_Missense_Mutation_p.D38N|ODZ2_uc010jje.2_5'UTR|uc003lzs.1_Intron	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TGATTGCTTGGATCCCACCTG	0.507													A	167551866	G	A	167551866	3	1	104	1	0	0	0	0	1	0	0	0	10835	1174	41	4	2062	4	ODZ2	5	167551866	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4649375	167551866	13363394	2563	69177											
ODZ2	57451	broad.mit.edu	37	chr5	167671461	167671461	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttgtccattgactatgatCgaaatattcggactgaaaag	8	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:167671461C>T	uc010jjd.2	+	26	5530	c.5530C>T	c.(5530-5532)CGA>TGA	p.R1844*	ODZ2_uc003lzr.3_Nonsense_Mutation_p.R1614*|ODZ2_uc003lzt.3_Nonsense_Mutation_p.R1217*|ODZ2_uc010jje.2_Nonsense_Mutation_p.R1108*	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TGACTATGATCGAAATATTCG	0.502													T	167671461	C	T	167671461	4	4	104	1	0	0	0	0	0	1	0	0	10835	876	31	1	5632	1	ODZ2	5	167671461	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	119595	167671461	13243799	2564	69178											
WWC1	23286	broad.mit.edu	37	chr5	167855774	167855774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaagcagtgggtgcgacccGaattcagattgccctgaagt	14	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:167855774G>A	uc003lzu.2	+	13	2075	c.1982G>A	c.(1981-1983)CGA>CAA	p.R661Q	WWC1_uc003lzv.2_Missense_Mutation_p.R661Q|WWC1_uc011den.1_Missense_Mutation_p.R661Q|WWC1_uc003lzw.2_Missense_Mutation_p.R460Q|WWC1_uc010jjf.1_5'Flank	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	661	C2.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGTGCGACCCGAATTCAGATT	0.547													A	167855774	G	A	167855774	3	1	104	1	0	0	0	0	1	0	0	0	17408	1058	37	1	2032	1	WWC1	5	167855774	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	184313	167855774	13059486	2565	69179											
PANK3	79646	broad.mit.edu	37	chr5	167990936	167990936	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaccaaatctttcataaTctcctccataaatatcacgg	3	12	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:167990936T>G	uc003lzz.1	-	4	1070	c.770A>C	c.(769-771)GAT>GCT	p.D257A	uc003maa.1_5'Flank|MIR103-1_hsa-mir-103-1|MI0000109_5'Flank	NM_024594	NP_078870	Q9H999	PANK3_HUMAN	pantothenate kinase 3	257					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		TCTTTCATAATCTCCTCCATA	0.378													G	167990936	T	G	167990936	3	3	104	1	0	0	0	0	1	0	0	0	11418	1435	50	5	358	5	PANK3	5	167990936	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	135162	167990936	12924324	2566	69180											
DOCK2	1794	broad.mit.edu	37	chr5	169141087	169141087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgacccttccttcttatcGacaccatgtggaaaacaagg	7	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:169141087G>A	uc003maf.2	+	18	1795	c.1715G>A	c.(1714-1716)CGA>CAA	p.R572Q	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R64Q|DOCK2_uc010jjl.1_Missense_Mutation_p.R90Q	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	572	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTTCTTATCGACACCATGTG	0.572													A	169141087	G	A	169141087	3	1	104	1	0	0	0	0	1	0	0	0	4687	1058	37	1	1785	1	DOCK2	5	169141087	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1150151	169141087	11774173	2567	69181											
LCP2	3937	broad.mit.edu	37	chr5	169679511	169679511	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgtaccactcttcatttaatGaattctgaaaatgtaaattt	4	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:169679511G>T	uc003man.1	-	19	1457	c.1250C>A	c.(1249-1251)TCA>TAA	p.S417*	C5orf58_uc003mal.2_RNA|LCP2_uc011des.1_Nonsense_Mutation_p.S212*|LCP2_uc011det.1_Nonsense_Mutation_p.S246*	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	417					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TTCATTTAATGAATTCTGAAA	0.308													T	169679511	G	T	169679511	4	4	104	1	0	0	0	0	0	1	0	0	8692	1294	45	5	363	5	LCP2	5	169679511	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	538424	169679511	11235749	2568	69182											
NPM1	4869	broad.mit.edu	37	chr5	170818793	170818793	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgcatattagtggacaGcacttagtaggtatgttatt	10	6	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:170818793G>A	uc011dex.1	+	5	477	c.342G>A	c.(340-342)CAG>CAA	p.Q114Q	NPM1_uc003mbh.2_Silent_p.Q114Q|NPM1_uc003mbi.2_Silent_p.Q114Q|NPM1_uc003mbj.2_Silent_p.Q114Q	NM_002520	NP_002511	P06748	NPM_HUMAN	nucleophosmin 1 isoform 1	114	Necessary for interaction with APEX1.|Required for interaction with SENP3.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	haematopoietic_and_lymphoid_tissue(3109)|skin(1)	3110	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTAGTGGACAGCACTTAGTAG	0.403			T|F 	ALK|RARA|MLF1	NHL|APL|AML								A	170818793	G	A	170818793	2	1	104	1	0	0	0	0	0	0	0	1	10587	962	34	2		2	NPM1	5	170818793	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1139282	170818793	10096467	2569	69183											
FBXW11	23291	broad.mit.edu	37	chr5	171295779	171295779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaactcatcaaactggagccGaaacacacgtccagaatgtt	7	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:171295779G>A	uc003mbm.1	-	12	1860	c.1489C>T	c.(1489-1491)CGG>TGG	p.R497W	FBXW11_uc011dey.1_Missense_Mutation_p.R465W|FBXW11_uc003mbl.1_Missense_Mutation_p.R484W|FBXW11_uc003mbn.1_Missense_Mutation_p.R463W	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11 isoform	497	WD 7.				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)|breast(1)	2	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AACTGGAGCCGAAACACACGT	0.413													A	171295779	G	A	171295779	3	1	104	1	0	0	0	0	1	0	0	0	5764	1057	37	1	143	1	FBXW11	5	171295779	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	476986	171295779	9619481	2570	69184											
FBXW11	23291	broad.mit.edu	37	chr5	171299912	171299912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatccactaacaaccaggCgatccctgtactggagacag	9	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:171299912C>T	uc003mbm.1	-	9	1612	c.1241G>A	c.(1240-1242)CGC>CAC	p.R414H	FBXW11_uc011dey.1_Missense_Mutation_p.R382H|FBXW11_uc003mbl.1_Missense_Mutation_p.R401H|FBXW11_uc003mbn.1_Missense_Mutation_p.R380H	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11 isoform	414	WD 5.				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)|breast(1)	2	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AACAACCAGGCGATCCCTGTA	0.473													T	171299912	C	T	171299912	3	4	104	1	0	0	0	0	1	0	0	0	5764	768	27	1	403	1	FBXW11	5	171299912	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4133	171299912	9615348	2571	69185											
ERGIC1	57222	broad.mit.edu	37	chr5	172341770	172341770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcacgaagtgggccacatcGacaactccatgaagatcccg	11	13	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:172341770G>A	uc003mbw.3	+	5	498	c.304G>A	c.(304-306)GAC>AAC	p.D102N	ERGIC1_uc003mby.3_Missense_Mutation_p.D10N|ERGIC1_uc011dfa.1_Missense_Mutation_p.D47N|ERGIC1_uc003mbz.3_Missense_Mutation_p.D57N	NM_001031711	NP_001026881	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate	102	Lumenal (Potential).				ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			skin(2)|ovary(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGCCACATCGACAACTCCAT	0.572													A	172341770	G	A	172341770	3	1	104	1	0	0	0	0	1	0	0	0	5223	1058	37	1	322	1	ERGIC1	5	172341770	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1041858	172341770	8573490	2572	69186											
RPL26L1	51121	broad.mit.edu	37	chr5	172396461	172396461	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acaaggatcggaaaaaaattCttgaacgcaaagccaagtct	8	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:172396461C>A	uc003mcc.2	+	4	397	c.355C>A	c.(355-357)CTT>ATT	p.L119I		NM_016093	NP_057177	Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	119					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome				0	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAAAAAAATTCTTGAACGCAA	0.403													A	172396461	C	A	172396461	3	1	104	1	0	0	0	0	1	0	0	0	13574	913	32	5	365	5	RPL26L1	5	172396461	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	54691	172396461	8518799	2573	69187											
C5orf41	153222	broad.mit.edu	37	chr5	172513516	172513516	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttgtagcctagtgtaagcGgaatggatccgcctttcggg	14	8	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:172513516G>T	uc003mch.2	+	3	326	c.22G>T	c.(22-24)GGA>TGA	p.G8*	C5orf41_uc003mcg.2_Nonsense_Mutation_p.G8*|C5orf41_uc003mcf.2_Nonsense_Mutation_p.G8*|C5orf41_uc011dfd.1_Nonsense_Mutation_p.G8*	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	luman-recruiting factor	8							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TAGTGTAAGCGGAATGGATCC	0.438													T	172513516	G	T	172513516	4	4	104	1	0	0	0	0	0	1	0	0	2300	1117	39	5	28	5	C5orf41	5	172513516	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	117055	172513516	8401744	2574	69188											
BNIP1	662	broad.mit.edu	37	chr5	172590728	172590728	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttcctcttttgtttcagTcacttcttcacgaacgatcc	4	14	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:172590728T>G	uc003mcj.3	+	6	595	c.491T>G	c.(490-492)GTC>GGC	p.V164G	BNIP1_uc003mci.3_Missense_Mutation_p.V207G|BNIP1_uc003mck.3_Missense_Mutation_p.V173G|BNIP1_uc003mcl.3_Missense_Mutation_p.V130G	NM_001205	NP_001196	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kD interacting protein 1	164	Cytoplasmic (Potential).				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTTGTTTCAGTCACTTCTTCA	0.493													G	172590728	T	G	172590728	3	3	104	1	0	0	0	0	1	0	0	0	1476	1681	58	5	646	5	BNIP1	5	172590728	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	77212	172590728	8324532	2575	69189											
CDHR2	54825	broad.mit.edu	37	chr5	176003151	176003151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctccccccgcatccccatcGatgacctcaccatggtggtc	7	20	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:176003151G>A	uc003mem.1	+	12	1225	c.1159G>A	c.(1159-1161)GAT>AAT	p.D387N	CDHR2_uc003men.1_Missense_Mutation_p.D387N	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	387	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	p.D387N(1)		ovary(2)	2						CATCCCCATCGATGACCTCAC	0.657													A	176003151	G	A	176003151	3	1	104	1	0	0	0	0	1	0	0	0	3119	1058	37	1	1201	1	CDHR2	5	176003151	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3412423	176003151	4912109	2576	69190											
HK3	3101	broad.mit.edu	37	chr5	176308305	176308305	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcacacccagactcaccgCgggtgcagcttgtagagcgt	12	15	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:176308305C>T	uc003mfa.2	-	18	2717	c.2625G>A	c.(2623-2625)CCG>CCA	p.P875P	HK3_uc003mez.2_Silent_p.P431P	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	875	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGACTCACCGCGGGTGCAGCT	0.672													T	176308305	C	T	176308305	2	4	104	1	0	0	0	0	0	0	0	1	7192	755	27	1		1	HK3	5	176308305	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	305154	176308305	4606955	2577	69191											
NSD1	64324	broad.mit.edu	37	chr5	176636805	176636805	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgatcctgagtcagaacatGacctgttgcttaatggctgt	10	8	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:176636805G>T	uc003mfr.3	+	5	1543	c.1405G>T	c.(1405-1407)GAC>TAC	p.D469Y	NSD1_uc003mft.3_Missense_Mutation_p.D200Y|NSD1_uc003mfs.1_Missense_Mutation_p.D366Y|NSD1_uc011dfx.1_Missense_Mutation_p.D117Y	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	469					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTCAGAACATGACCTGTTGCT	0.423			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			T	176636805	G	T	176636805	3	4	104	1	0	0	0	0	1	0	0	0	10669	1290	45	5	1419	5	NSD1	5	176636805	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	328500	176636805	4278455	2578	69192											
NSD1	64324	broad.mit.edu	37	chr5	176671259	176671259	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgccacatcttattcaaaaGattttggtggaggtgagtat	11	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:176671259G>T	uc003mfr.3	+	9	4504	c.4366G>T	c.(4366-4368)GAT>TAT	p.D1456Y	NSD1_uc003mft.3_Missense_Mutation_p.D1187Y|NSD1_uc003mfs.1_Missense_Mutation_p.D1353Y|NSD1_uc011dfx.1_Missense_Mutation_p.D1104Y	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1456					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTATTCAAAAGATTTTGGTGG	0.343			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			T	176671259	G	T	176671259	3	4	104	1	0	0	0	0	1	0	0	0	10669	942	33	5	4396	5	NSD1	5	176671259	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	34454	176671259	4244001	2579	69193											
NHP2	55651	broad.mit.edu	37	chr5	177580513	177580513	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttttctcctttgttgacaAatttctgaacctctttcacc	3	12	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:177580513A>C	uc003mir.2	-	2	352	c.209T>G	c.(208-210)TTT>TGT	p.F70C	NHP2_uc003mis.2_Missense_Mutation_p.F70C	NM_017838	NP_060308	Q9NX24	NHP2_HUMAN	nucleolar protein family A, member 2 isoform a	70					rRNA pseudouridine synthesis	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding				0						TTTGTTGACAAATTTCTGAAC	0.512													C	177580513	A	C	177580513	3	2	104	1	0	0	0	0	1	0	0	0	10409	14	1	5	264	5	NHP2	5	177580513	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	909254	177580513	3334747	2580	69194											
COL23A1	91522	broad.mit.edu	37	chr5	177681965	177681965	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actaccttgagggcatccaaGatcctgccatcatagtcgat	8	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:177681965G>T	uc003mje.2	-	16	1303	c.945C>A	c.(943-945)ATC>ATA	p.I315I	COL23A1_uc010jkt.2_Silent_p.I197I	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	315	Extracellular (Potential).|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		GGGCATCCAAGATCCTGCCAT	0.488													T	177681965	G	T	177681965	2	4	104	1	0	0	0	0	0	0	0	1	3682	932	33	5		5	COL23A1	5	177681965	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	101452	177681965	3233295	2581	69195											
ZNF354A	6940	broad.mit.edu	37	chr5	178152396	178152396	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctagagaggagacgccagaAccgtctttctccacctccca	8	16	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:178152396A>G	uc003mjj.2	-	4	435	c.237T>C	c.(235-237)GGT>GGC	p.G79G		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	79	KRAB.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		AGACGCCAGAACCGTCTTTCT	0.517													G	178152396	A	G	178152396	2	3	104	1	0	0	0	0	0	0	0	1	17861	30	2	3		3	ZNF354A	5	178152396	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	470431	178152396	2762864	2582	69196											
ZNF354B	117608	broad.mit.edu	37	chr5	178309931	178309931	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagatagaagccataaaAatgttgaatttggccaaaac	8	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:178309931A>C	uc003mjl.2	+	5	704	c.478A>C	c.(478-480)AAT>CAT	p.N160H	ZNF354B_uc003mjm.2_Missense_Mutation_p.N160H	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCCATAAAAATGTTGAATT	0.294													C	178309931	A	C	178309931	3	2	104	1	0	0	0	0	1	0	0	0	17862	14	1	5	492	5	ZNF354B	5	178309931	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	157535	178309931	2605329	2583	69197											
ZNF454	285676	broad.mit.edu	37	chr5	178373364	178373364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaatttgctgttgcaggaatCggtgaccttcaaggatgtgg	14	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:178373364C>T	uc003mjo.1	+	3	309	c.38C>T	c.(37-39)TCG>TTG	p.S13L	ZNF454_uc010jkz.1_Missense_Mutation_p.S13L|ZNF454_uc003mjp.2_Silent_p.I48I	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TTGCAGGAATCGGTGACCTTC	0.567													T	178373364	C	T	178373364	3	4	104	1	0	0	0	0	1	0	0	0	17920	893	31	1	44	1	ZNF454	5	178373364	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	63433	178373364	2541896	2584	69198											
ZNF454	285676	broad.mit.edu	37	chr5	178392029	178392029	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaaatgcaaatcagaaAattcatattaaggagaaaag	7	3	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:178392029A>C	uc003mjo.1	+	5	895	c.624A>C	c.(622-624)AAA>AAC	p.K208N	ZNF454_uc010jkz.1_Missense_Mutation_p.K208N	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		CAAATCAGAAAATTCATATTA	0.348													C	178392029	A	C	178392029	3	2	104	1	0	0	0	0	1	0	0	0	17920	11	1	5	638	5	ZNF454	5	178392029	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	18665	178392029	2523231	2585	69199											
ZNF454	285676	broad.mit.edu	37	chr5	178392784	178392784	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcccttacccaacataagaGaattcatactagggaaaaac	6	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:178392784G>T	uc003mjo.1	+	5	1650	c.1379G>T	c.(1378-1380)AGA>ATA	p.R460I	ZNF454_uc010jkz.1_Missense_Mutation_p.R460I	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	460	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		CAACATAAGAGAATTCATACT	0.403													T	178392784	G	T	178392784	3	4	104	1	0	0	0	0	1	0	0	0	17920	942	33	5	1393	5	ZNF454	5	178392784	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	755	178392784	2522476	2586	69200											
ZNF354C	30832	broad.mit.edu	37	chr5	178505734	178505734	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcatagacaggacattTttatagaagaaacatctcag	7	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:178505734T>G	uc003mju.2	+	5	416	c.301T>G	c.(301-303)TTT>GTT	p.F101V		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		ACAGGACATTTTTATAGAAGA	0.383													G	178505734	T	G	178505734	3	3	104	1	0	0	0	0	1	0	0	0	17863	1841	64	5	315	5	ZNF354C	5	178505734	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	112950	178505734	2409526	2587	69201											
ZNF354C	30832	broad.mit.edu	37	chr5	178506881	178506881	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcagccagtattcattttTaaccgaacatgagaggatcc	7	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:178506881T>G	uc003mju.2	+	5	1563	c.1448T>G	c.(1447-1449)TTA>TGA	p.L483*		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	483	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TATTCATTTTTAACCGAACAT	0.393													G	178506881	T	G	178506881	4	3	104	1	0	0	0	0	0	1	0	0	17863	1764	61	5	1462	5	ZNF354C	5	178506881	Nonsense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1147	178506881	2408379	2588	69202											
ADAMTS2	9509	broad.mit.edu	37	chr5	178541025	178541025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtagggttcatctacgGcattggtttctgggtgatcc	12	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:178541025G>A	uc003mjw.2	-	22	3479	c.3479C>T	c.(3478-3480)GCC>GTC	p.A1160V	uc003mjv.3_5'Flank	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1160					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TTCATCTACGGCATTGGTTTC	0.552													A	178541025	G	A	178541025	3	1	104	1	0	0	0	0	1	0	0	0	265	1203	42	2	160	2	ADAMTS2	5	178541025	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	34144	178541025	2374235	2589	69203											
ADAMTS2	9509	broad.mit.edu	37	chr5	178557056	178557056	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaactggcatccacgtcattCtcttcatttaagatgaactt	6	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:178557056C>A	uc003mjw.2	-	16	2334	c.2334G>T	c.(2332-2334)GAG>GAT	p.E778D		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	778	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCACGTCATTCTCTTCATTTA	0.577													A	178557056	C	A	178557056	3	1	104	1	0	0	0	0	1	0	0	0	265	912	32	5	1329	5	ADAMTS2	5	178557056	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	16031	178557056	2358204	2590	69204											
ADAMTS2	9509	broad.mit.edu	37	chr5	178770784	178770784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccagcccatcgcagttgCtgagcgccacagaggaggct	12	14	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:178770784C>T	uc003mjw.2	-	2	518	c.518G>A	c.(517-519)AGC>AAC	p.S173N	ADAMTS2_uc011dgm.1_Missense_Mutation_p.S173N	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	173					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATCGCAGTTGCTGAGCGCCAC	0.637													T	178770784	C	T	178770784	3	4	104	1	0	0	0	0	1	0	0	0	265	797	28	2	3276	2	ADAMTS2	5	178770784	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	213728	178770784	2144476	2591	69205											
MAML1	9794	broad.mit.edu	37	chr5	179195995	179195995	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaatgaagcagcatcagTtgcttttggaccaacagaaa	9	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:179195995T>C	uc003mkm.2	+	3	2139	c.1876T>C	c.(1876-1878)TTG>CTG	p.L626L	MAML1_uc003mkn.1_Silent_p.L626L	NM_014757	NP_055572	Q92585	MAML1_HUMAN	mastermind-like 1	626					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			lung(4)|ovary(2)	6	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCATCAGTTGCTTTTGGA	0.552													C	179195995	T	C	179195995	2	2	104	1	0	0	0	0	0	0	0	1	9205	1722	60	3		3	MAML1	5	179195995	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	425211	179195995	1719265	2592	69206											
TBC1D9B	23061	broad.mit.edu	37	chr5	179302018	179302018	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgccctcatagaaaaaGcagtcgacgatgaccacggc	10	11	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:179302018G>A	uc003mlh.2	-	12	2107	c.2070C>T	c.(2068-2070)TGC>TGT	p.C690C	TBC1D9B_uc003mli.2_Silent_p.C690C|TBC1D9B_uc003mlj.2_Silent_p.C690C|TBC1D9B_uc011dgv.1_5'Flank	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	690	Rab-GAP TBC.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATAGAAAAAGCAGTCGACGA	0.627													A	179302018	G	A	179302018	2	1	104	1	0	0	0	0	0	0	0	1	15625	963	34	2		2	TBC1D9B	5	179302018	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	106023	179302018	1613242	2593	69207											
RASGEF1C	255426	broad.mit.edu	37	chr5	179529139	179529139	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcgtaagaagccaaataAagacctagacagaaaatgaa	7	7	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:179529139A>C	uc003mlq.2	-	12	1605	c.1308T>G	c.(1306-1308)CTT>CTG	p.L436L	RASGEF1C_uc003mlr.2_Silent_p.L436L|RASGEF1C_uc003mlp.3_Silent_p.L285L	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	436	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCCAAATAAAGACCTAGAC	0.363													C	179529139	A	C	179529139	2	2	104	1	0	0	0	0	0	0	0	1	13071	1	1	5		5	RASGEF1C	5	179529139	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	227121	179529139	1386121	2594	69208											
GFPT2	9945	broad.mit.edu	37	chr5	179743815	179743815	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatcacgatgagccgtcgGcatcgtcgaatctccttcaa	8	14	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:179743815G>A	uc003mlw.1	-	12	1199	c.1101C>T	c.(1099-1101)TGC>TGT	p.C367C		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	367	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			ovary(1)|skin(1)	2	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TGAGCCGTCGGCATCGTCGAA	0.577													A	179743815	G	A	179743815	2	1	104	1	0	0	0	0	0	0	0	1	6346	1195	42	2		2	GFPT2	5	179743815	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	214676	179743815	1171445	2595	69209											
CNOT6	57472	broad.mit.edu	37	chr5	179994129	179994129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagtttttttctggtagaGctgaaagaacgtggctataa	10	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:179994129G>A	uc003mlx.2	+	8	1108	c.759G>A	c.(757-759)GAG>GAA	p.E253E	CNOT6_uc010jld.2_Silent_p.E253E|CNOT6_uc010jle.2_Silent_p.E248E	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	253					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding				0	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TTCTGGTAGAGCTGAAAGAAC	0.363													A	179994129	G	A	179994129	2	1	104	1	0	0	0	0	0	0	0	1	3622	962	34	2		2	CNOT6	5	179994129	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	250314	179994129	921131	2596	69210											
FLT4	2324	broad.mit.edu	37	chr5	180057603	180057603	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtggtgccctcgatgcgtgCcttgatgtacttgtagtagc	13	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr5:180057603C>A	uc003mma.3	-	3	431	c.352G>T	c.(352-354)GCA>TCA	p.A118S	FLT4_uc003mlz.3_Missense_Mutation_p.A118S|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Missense_Mutation_p.A118S|FLT4_uc011dgz.1_Missense_Mutation_p.A118S|FLT4_uc011dha.1_Missense_Mutation_p.A118S	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	118	Ig-like C2-type 1.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCGATGCGTGCCTTGATGTAC	0.642									Congenital_Hereditary_Lymphedema				A	180057603	C	A	180057603	3	1	104	1	0	0	0	0	1	0	0	0	5944	739	26	5	3859	5	FLT4	5	180057603	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	63474	180057603	857657	2597	69211											
IRF4	3662	broad.mit.edu	37	chr6	393249	393249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtggctgatcgaccagatcGacagcggcaagtaccccggg	14	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:393249G>A	uc003msz.3	+	2	210	c.97G>A	c.(97-99)GAC>AAC	p.D33N	IRF4_uc010jne.1_Missense_Mutation_p.D33N|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.D33N	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	33	IRF tryptophan pentad repeat.				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CGACCAGATCGACAGCGGCAA	0.662			T	IGH@	MM 								A	393249	G	A	393249	3	1	104	1	0	0	0	0	1	0	0	0	7832	1058	37	1	99	1	IRF4	6	393249	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08		393249	170721818	2598	69212											
EXOC2	55770	broad.mit.edu	37	chr6	598085	598085	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caatttatccagaagtaattCtcttaaagcttcaatccttg	4	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:598085C>A	uc003mtd.2	-	10	1143	c.1009G>T	c.(1009-1011)GAA>TAA	p.E337*	EXOC2_uc003mte.2_Nonsense_Mutation_p.E337*|EXOC2_uc011dho.1_Intron	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	337					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		AGAAGTAATTCTCTTAAAGCT	0.274													A	598085	C	A	598085	4	1	104	1	0	0	0	0	0	1	0	0	5302	922	32	5	1841	5	EXOC2	6	598085	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	204836	598085	170516982	2599	69213											
EXOC2	55770	broad.mit.edu	37	chr6	637805	637805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggtcacaagggggggttgtCgtgatcgagacattgtgctt	16	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:637805C>T	uc003mtd.2	-	2	148	c.14G>A	c.(13-15)CGA>CAA	p.R5Q	EXOC2_uc003mte.2_Missense_Mutation_p.R5Q|EXOC2_uc011dho.1_Intron	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	5					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GGGGGGTTGTCGTGATCGAGA	0.478													T	637805	C	T	637805	3	4	104	1	0	0	0	0	1	0	0	0	5302	884	31	1	2868	1	EXOC2	6	637805	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	39720	637805	170477262	2600	69214											
FOXC1	2296	broad.mit.edu	37	chr6	1610914	1610914	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcccaaggacatggtgaaGccgccctatagctacatcgc	10	14	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:1610914G>T	uc003mtp.2	+	1	234	c.234G>T	c.(232-234)AAG>AAT	p.K78N		NM_001453	NP_001444	Q12948	FOXC1_HUMAN	forkhead box C1	78	Fork-head.				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		ACATGGTGAAGCCGCCCTATA	0.647													T	1610914	G	T	1610914	3	4	104	1	0	0	0	0	1	0	0	0	5994	962	34	5	236	5	FOXC1	6	1610914	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	973109	1610914	169504153	2601	69215											
MYLK4	340156	broad.mit.edu	37	chr6	2671570	2671570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcctgggcatcagagccacGattcttcttcttctagggaa	10	11	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:2671570G>A	uc003mty.3	-	12	1429	c.1132C>T	c.(1132-1134)CGT>TGT	p.R378C	MYLK4_uc003mtx.3_Missense_Mutation_p.R93C	NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	378							ATP binding|protein serine/threonine kinase activity			breast(3)|ovary(1)	4	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TCAGAGCCACGATTCTTCTTC	0.473													A	2671570	G	A	2671570	3	1	104	1	0	0	0	0	1	0	0	0	10059	1058	37	1	38	1	MYLK4	6	2671570	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1060656	2671570	168443497	2602	69216											
WRNIP1	56897	broad.mit.edu	37	chr6	2770510	2770510	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatggtgactattttaatgCgagcgatcaactccctggga	10	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:2770510C>T	uc003mtz.2	+	3	1362	c.1171C>T	c.(1171-1173)CGA>TGA	p.R391*	WRNIP1_uc003mua.2_Nonsense_Mutation_p.R366*	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Werner helicase interacting protein isoform 1	391					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			ovary(1)|pancreas(1)	2	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TATTTTAATGCGAGCGATCAA	0.517													T	2770510	C	T	2770510	4	4	104	1	0	0	0	0	0	1	0	0	17400	760	27	1	1181	1	WRNIP1	6	2770510	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	98940	2770510	168344557	2603	69217											
SERPINB6	5269	broad.mit.edu	37	chr6	2948628	2948628	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcggcgcagaagcgggggacGaatctggcacaccgcatcat	14	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:2948628G>A	uc003muk.2	-	6	3030	c.1035C>T	c.(1033-1035)TTC>TTT	p.F345F	SERPINB6_uc003mui.2_Silent_p.F228F|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Silent_p.F345F|SERPINB6_uc003mum.2_Silent_p.F345F|SERPINB6_uc003mun.2_Silent_p.F345F|SERPINB6_uc003muo.2_Silent_p.F345F	NM_004568	NP_004559	P35237	SPB6_HUMAN	serine (or cysteine) proteinase inhibitor, clade	345					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity				0	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	AGCGGGGGACGAATCTGGCAC	0.582													A	2948628	G	A	2948628	2	1	104	1	0	0	0	0	0	0	0	1	14105	1049	37	1		1	SERPINB6	6	2948628	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	178118	2948628	168166439	2604	69218											
C6orf146	222826	broad.mit.edu	37	chr6	4069760	4069760	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaaggttcctcaacatTttttattgtttctggcttca	8	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:4069760T>G	uc003mvx.2	-	7	1037	c.697A>C	c.(697-699)AAT>CAT	p.N233H	C6orf146_uc010jnq.1_Intron|C6orf146_uc003mvy.2_Missense_Mutation_p.N170H	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	hypothetical protein LOC222826	233										ovary(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TCCTCAACATTTTTTATTGTT	0.378													G	4069760	T	G	4069760	3	3	104	1	0	0	0	0	1	0	0	0	2335	1841	64	5	833	5	C6orf146	6	4069760	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1121132	4069760	167045307	2605	69219											
CDYL	9425	broad.mit.edu	37	chr6	4954278	4954278	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtacttgcagaggaagatCgatgagttctgagtgtcggg	15	5	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:4954278C>T	uc003mwi.2	+	9	1916	c.1785C>T	c.(1783-1785)ATC>ATT	p.I595I	CDYL_uc003mwj.2_Silent_p.I541I|CDYL_uc003mwk.2_Silent_p.I306I|CDYL_uc011dhx.1_Silent_p.I409I|CDYL_uc011dhy.1_Silent_p.I409I	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	595					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AGAGGAAGATCGATGAGTTCT	0.577													T	4954278	C	T	4954278	2	4	104	1	0	0	0	0	0	0	0	1	3185	874	31	1		1	CDYL	6	4954278	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	884518	4954278	166160789	2606	69220											
F13A1	2162	broad.mit.edu	37	chr6	6167838	6167838	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccggcttggatcagcacCgcctctttcttgactagtag	10	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:6167838C>T	uc003mwv.2	-	13	1884	c.1761G>A	c.(1759-1761)GCG>GCA	p.A587A	F13A1_uc011dib.1_Silent_p.A524A	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	587					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGATCAGCACCGCCTCTTTCT	0.527													T	6167838	C	T	6167838	2	4	104	1	0	0	0	0	0	0	0	1	5340	639	23	1		1	F13A1	6	6167838	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1213560	6167838	164947229	2607	69221											
F13A1	2162	broad.mit.edu	37	chr6	6225075	6225075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggatccaacgaggacaccttCgtcatctttggcattcacct	8	13	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:6225075C>T	uc003mwv.2	-	7	940	c.817G>A	c.(817-819)GAA>AAA	p.E273K	F13A1_uc011dib.1_Missense_Mutation_p.E210K	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	273					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGGACACCTTCGTCATCTTTG	0.498													T	6225075	C	T	6225075	3	4	104	1	0	0	0	0	1	0	0	0	5340	893	31	1	1417	1	F13A1	6	6225075	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	57237	6225075	164889992	2608	69222											
CAGE1	285782	broad.mit.edu	37	chr6	7373574	7373574	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggttttccttttcaagtTtctggaattcctcctgtaaa	6	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:7373574T>G	uc003mxi.2	-	4	1791	c.1070A>C	c.(1069-1071)AAA>ACA	p.K357T	CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.K248T|CAGE1_uc003mxk.1_Missense_Mutation_p.K248T	NM_205864	NP_995586	Q8TC20	CAGE1_HUMAN	cancer antigen 1	493	Potential.										0	Ovarian(93;0.0418)					CTTTTCAAGTTTCTGGAATTC	0.378													G	7373574	T	G	7373574	3	3	104	1	0	0	0	0	1	0	0	0	2572	1841	64	5	1187	5	CAGE1	6	7373574	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1148499	7373574	163741493	2609	69223											
RIOK1	83732	broad.mit.edu	37	chr6	7405486	7405486	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttttccttctgacagatttCtttatgaggcacagtgttgc	8	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:7405486C>A	uc003mxn.2	+	12	1275	c.1101C>A	c.(1099-1101)TTC>TTA	p.F367L	RIOK1_uc003mxo.2_Missense_Mutation_p.F126L	NM_031480	NP_113668	Q9BRS2	RIOK1_HUMAN	RIO kinase 1 isoform 1	367	Protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|skin(1)	4	Ovarian(93;0.0418)					TGACAGATTTCTTTATGAGGC	0.363													A	7405486	C	A	7405486	3	1	104	1	0	0	0	0	1	0	0	0	13377	912	32	5	1147	5	RIOK1	6	7405486	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	31912	7405486	163709581	2610	69224											
RIOK1	83732	broad.mit.edu	37	chr6	7411600	7411600	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatattcctagaaccttgaaTgaagtgaaaaattatgagag	8	4	0	5	rs138618030		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:7411600T>C	uc003mxn.2	+	14	1479	c.1305T>C	c.(1303-1305)AAT>AAC	p.N435N	RIOK1_uc003mxo.2_Silent_p.N194N	NM_031480	NP_113668	Q9BRS2	RIOK1_HUMAN	RIO kinase 1 isoform 1	435	Protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|skin(1)	4	Ovarian(93;0.0418)					GAACCTTGAATGAAGTGAAAA	0.358													C	7411600	T	C	7411600	2	2	104	1	0	0	0	0	0	0	0	1	13377	1461	51	3		3	RIOK1	6	7411600	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	6114	7411600	163703467	2611	69225											
DSP	1832	broad.mit.edu	37	chr6	7575554	7575554	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaaatgacttgaacttgaaGaagtcgttgttggccactat	9	6	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:7575554G>T	uc003mxp.1	+	18	2742	c.2463G>T	c.(2461-2463)AAG>AAT	p.K821N	DSP_uc003mxq.1_Missense_Mutation_p.K821N	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	821	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGAACTTGAAGAAGTCGTTGT	0.388													T	7575554	G	T	7575554	3	4	104	1	0	0	0	0	1	0	0	0	4781	933	33	5	2533	5	DSP	6	7575554	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	163954	7575554	163539513	2612	69226											
DSP	1832	broad.mit.edu	37	chr6	7584004	7584004	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatccccgagatagtcagaAaaactttgtggatccagtca	9	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:7584004A>C	uc003mxp.1	+	24	6788	c.6509A>C	c.(6508-6510)AAA>ACA	p.K2170T	DSP_uc003mxq.1_Missense_Mutation_p.K1571T	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2170	Plectin 5.|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GATAGTCAGAAAAACTTTGTG	0.473													C	7584004	A	C	7584004	3	2	104	1	0	0	0	0	1	0	0	0	4781	14	1	5	6603	5	DSP	6	7584004	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	8450	7584004	163531063	2613	69227											
GCM2	9247	broad.mit.edu	37	chr6	10876691	10876691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctacctgaaaaaagatcGcgttgccatcaagccgccaa	8	13	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:10876691G>A	uc003mzn.3	-	3	515	c.443C>T	c.(442-444)GCG>GTG	p.A148V	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	glial cells missing homolog 2	148	GCM.				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				AAAAAAGATCGCGTTGCCATC	0.498													A	10876691	G	A	10876691	3	1	104	1	0	0	0	0	1	0	0	0	6298	1087	38	1	1089	1	GCM2	6	10876691	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3292687	10876691	160238376	2614	69228											
ERVFRDE1	405754	broad.mit.edu	37	chr6	11104843	11104843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcccaaaaaagagaatttCgagtttggtccaatagaacc	7	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:11104843C>T	uc003mzt.2	-	2	1071	c.701G>A	c.(700-702)CGA>CAA	p.R234Q	LOC221710_uc003mzr.2_Intron|LOC221710_uc011dio.1_Intron	NM_207582	NP_997465	P60508	EFRD1_HUMAN	syncytin 2	234	Extracellular (Potential).					integral to membrane|plasma membrane|virion					0						aagagaatttcgagttTGGTC	0.219													T	11104843	C	T	11104843	3	4	104	1	0	0	0	0	1	0	0	0	5246	884	31	1	919	1	ERVFRDE1	6	11104843	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	228152	11104843	160010224	2615	69229											
HIVEP1	3096	broad.mit.edu	37	chr6	12120209	12120209	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagctgagaatcacctgaaaAaaataccaaaatccccactg	5	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:12120209A>C	uc003nac.2	+	4	360	c.181A>C	c.(181-183)AAA>CAA	p.K61Q	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	61					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCACCTGAAAAAAATACCAAA	0.398													C	12120209	A	C	12120209	3	2	104	1	0	0	0	0	1	0	0	0	7186	15	1	5	191	5	HIVEP1	6	12120209	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1015366	12120209	158994858	2616	69230											
HIVEP1	3096	broad.mit.edu	37	chr6	12120319	12120319	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcggagtctcacaagaaacaGaattatattcctgtaaaaaa	6	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:12120319G>T	uc003nac.2	+	4	470	c.291G>T	c.(289-291)CAG>CAT	p.Q97H	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	97					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACAAGAAACAGAATTATATTC	0.388													T	12120319	G	T	12120319	3	4	104	1	0	0	0	0	1	0	0	0	7186	933	33	5	301	5	HIVEP1	6	12120319	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	110	12120319	158994748	2617	69231											
HIVEP1	3096	broad.mit.edu	37	chr6	12121176	12121176	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactcatgttgcctctgttgTtaatcaaagcgtagagcaaa	8	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:12121176T>G	uc003nac.2	+	4	1327	c.1148T>G	c.(1147-1149)GTT>GGT	p.V383G	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	383					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCCTCTGTTGTTAATCAAAGC	0.393													G	12121176	T	G	12121176	3	3	104	1	0	0	0	0	1	0	0	0	7186	1725	60	5	1158	5	HIVEP1	6	12121176	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	857	12121176	158993891	2618	69232											
HIVEP1	3096	broad.mit.edu	37	chr6	12122667	12122667	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctatgatgatgtctttgTatcgggacctaacgctcctg	9	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:12122667T>C	uc003nac.2	+	4	2818	c.2639T>C	c.(2638-2640)GTA>GCA	p.V880A	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	880					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GATGTCTTTGTATCGGGACCT	0.443													C	12122667	T	C	12122667	3	2	104	1	0	0	0	0	1	0	0	0	7186	1638	57	3	2649	3	HIVEP1	6	12122667	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1491	12122667	158992400	2619	69233											
JARID2	3720	broad.mit.edu	37	chr6	15501389	15501389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggagatcctggagaagCgcaaggggccgctggaaggc	18	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:15501389C>T	uc003nbj.2	+	8	2441	c.2197C>T	c.(2197-2199)CGC>TGC	p.R733C	JARID2_uc011div.1_Missense_Mutation_p.R561C|JARID2_uc011diw.1_Missense_Mutation_p.R695C	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	733					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CCTGGAGAAGCGCAAGGGGCC	0.637													T	15501389	C	T	15501389	3	4	104	1	0	0	0	0	1	0	0	0	7945	768	27	1	2227	1	JARID2	6	15501389	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3378722	15501389	155613678	2620	69234											
GMPR	2766	broad.mit.edu	37	chr6	16274705	16274705	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attctttccggagcagatatCatcaaagtgggagttggacc	11	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:16274705C>A	uc003nbs.2	+	5	639	c.525C>A	c.(523-525)ATC>ATA	p.I175I		NM_006877	NP_006868	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	175					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			ovary(1)	1	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GAGCAGATATCATCAAAGTGG	0.493													A	16274705	C	A	16274705	2	1	104	1	0	0	0	0	0	0	0	1	6496	816	29	5		5	GMPR	6	16274705	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	773316	16274705	154840362	2621	69235											
NUP153	9972	broad.mit.edu	37	chr6	17648090	17648090	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attttacgattggagatgaaAatttaaacatgggactgcca	9	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:17648090A>C	uc003ncd.1	-	13	1780	c.1580T>G	c.(1579-1581)TTT>TGT	p.F527C	NUP153_uc011dje.1_Missense_Mutation_p.F558C|NUP153_uc010jpl.1_Missense_Mutation_p.F527C	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	527					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TGGAGATGAAAATTTAAACAT	0.338													C	17648090	A	C	17648090	3	2	104	1	0	0	0	0	1	0	0	0	10755	14	1	5	2887	5	NUP153	6	17648090	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1373385	17648090	153466977	2622	69236											
DEK	7913	broad.mit.edu	37	chr6	18256686	18256686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcttctttaatgaggacaCctgaaaatgttccttattat	5	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:18256686C>T	uc003ncr.1	-	5	551	c.358G>A	c.(358-360)GTG>ATG	p.V120M	DEK_uc011djf.1_Missense_Mutation_p.V86M|DEK_uc011djg.1_RNA	NM_003472	NP_003463	P35659	DEK_HUMAN	DEK oncogene isoform 1	120					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			kidney(1)	1	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			AATGAGGACACCTGAAAATGT	0.308			T	NUP214	AML								T	18256686	C	T	18256686	3	4	104	1	0	0	0	0	1	0	0	0	4424	521	18	4	797	4	DEK	6	18256686	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	608596	18256686	152858381	2623	69237											
MBOAT1	154141	broad.mit.edu	37	chr6	20118675	20118675	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcatacactcacctcaattTtccagatgtttaggttcgaa	6	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:20118675T>G	uc003ncx.1	-	9	1209	c.1004A>C	c.(1003-1005)AAA>ACA	p.K335T	MBOAT1_uc011dji.1_Missense_Mutation_p.K186T	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain	335					phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			CACCTCAATTTTCCAGATGTT	0.423													G	20118675	T	G	20118675	3	3	104	1	0	0	0	0	1	0	0	0	9356	1841	64	5	503	5	MBOAT1	6	20118675	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1861989	20118675	150996392	2624	69238											
E2F3	1871	broad.mit.edu	37	chr6	20480168	20480168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaaggaagagctgcactacGaagtccagatagtccaaaaa	9	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:20480168G>A	uc003nda.2	+	2	812	c.485G>A	c.(484-486)CGA>CAA	p.R162Q	E2F3_uc003ncz.2_Missense_Mutation_p.R162Q	NM_001949	NP_001940	O00716	E2F3_HUMAN	E2F transcription factor 3	162	Potential.				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			GCTGCACTACGAAGTCCAGAT	0.453													A	20480168	G	A	20480168	3	1	104	1	0	0	0	0	1	0	0	0	4868	1058	37	1	491	1	E2F3	6	20480168	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	361493	20480168	150634899	2625	69239											
E2F3	1871	broad.mit.edu	37	chr6	20483077	20483077	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accgagctcagtcaggaagaGaagaaattagatgaactgat	11	6	2	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:20483077G>A	uc003nda.2	+	4	1137	c.810G>A	c.(808-810)GAG>GAA	p.E270E	E2F3_uc003ncz.2_Silent_p.E264E	NM_001949	NP_001940	O00716	E2F3_HUMAN	E2F transcription factor 3	270	Dimerization (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			GTCAGGAAGAGAAGAAATTAG	0.502													A	20483077	G	A	20483077	2	1	104	1	0	0	0	0	0	0	0	1	4868	933	33	4		4	E2F3	6	20483077	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2909	20483077	150631990	2626	69240											
NRSN1	140767	broad.mit.edu	37	chr6	24145834	24145834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgactgttctggcagtggGctttcttgtgccccccaaaa	10	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:24145834G>A	uc010jpq.1	+	4	485	c.248G>A	c.(247-249)GGC>GAC	p.G83D		NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN	neurensin 1	83	Helical; (Potential).				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle					0						CTGGCAGTGGGCTTTCTTGTG	0.478													A	24145834	G	A	24145834	3	1	104	1	0	0	0	0	1	0	0	0	10662	1203	42	2	254	2	NRSN1	6	24145834	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3662757	24145834	146969233	2627	69241											
GPLD1	2822	broad.mit.edu	37	chr6	24489651	24489651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagtacttacctatttctAcgtgtgttgaaaggccacac	7	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:24489651A>G	uc003ned.1	-	1	200	c.89T>C	c.(88-90)GTA>GCA	p.V30A	GPLD1_uc010jps.1_Missense_Mutation_p.V30A|GPLD1_uc003nee.2_Missense_Mutation_p.V30A	NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	30						extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						ACCTATTTCTACGTGTGTTGA	0.458													G	24489651	A	G	24489651	3	3	104	1	0	0	0	0	1	0	0	0	6614	391	14	3	2574	3	GPLD1	6	24489651	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	343817	24489651	146625416	2628	69242											
KIAA0319	9856	broad.mit.edu	37	chr6	24596714	24596714	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcacagctggacaggTcacagcaagcggccgtgcag	14	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:24596714T>C	uc011djo.1	-	3	425	c.188A>G	c.(187-189)GAC>GGC	p.D63G	KIAA0319_uc011djp.1_Missense_Mutation_p.D18G|KIAA0319_uc003neh.1_Missense_Mutation_p.D63G|KIAA0319_uc011djq.1_Missense_Mutation_p.D54G|KIAA0319_uc011djr.1_Missense_Mutation_p.D63G	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	63	MANSC.|Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2						GCTGGACAGGTCACAGCAAGC	0.567													C	24596714	T	C	24596714	3	2	104	1	0	0	0	0	1	0	0	0	8168	1667	58	3	3106	3	KIAA0319	6	24596714	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	107063	24596714	146518353	2629	69243											
C6orf62	81688	broad.mit.edu	37	chr6	24714605	24714606	+	Frame_Shift_Ins	INS	-	-	T													gaaaacaggagacagacgatINStttttcaatatcattccgag							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:24714604_24714605A>AT	uc003nel.3	-	2	877_878	c.370_371T>AT	c.(370-372)atcfs	p.I124fs		NM_030939	NP_112201	Q9GZU0	CF062_HUMAN	Homo sapiens chromosome 6 open reading frame 62 (C6orf62), mRNA.	124						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						GAGACAGACGATTTTTTCAATA	0.332													T	24714606	-	T	24714605	7	5	104	1	0	1	1	0	0	0	0	0	2368	1493	52	0	331	0	C6orf62	6	24714605	Frame_Shift_Ins	INS	-	TCGA-BR-8680-01A-11D-2394-08	117891	24714605	146400462	2630	69244											
GMNN	51053	broad.mit.edu	37	chr6	24784681	24784681	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgtaatacagcttcataaaGaaattgaacaaaaggacaat	6	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:24784681G>T	uc003nem.2	+	6	574	c.367G>T	c.(367-369)GAA>TAA	p.E123*	GMNN_uc003nen.2_Nonsense_Mutation_p.E123*	NM_015895	NP_056979	O75496	GEMI_HUMAN	geminin	123	|Necessary and sufficient for interaction with IDAS.				M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent	cytosol|nucleoplasm	histone deacetylase binding			ovary(1)	1						GCTTCATAAAGAAATTGAACA	0.338													T	24784681	G	T	24784681	4	4	104	1	0	0	0	0	0	1	0	0	6493	943	33	5	385	5	GMNN	6	24784681	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	70076	24784681	146330386	2631	69245											
SCGN	10590	broad.mit.edu	37	chr6	25682209	25682209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgacagaaataaagatggtCggttggatctaaatgactta	10	4	1	4	rs148850055	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:25682209C>T	uc003nfb.2	+	7	705	c.502C>T	c.(502-504)CGG>TGG	p.R168W	SCGN_uc010jpz.2_Intron	NM_006998	NP_008929	O76038	SEGN_HUMAN	secretagogin precursor	168	4 (Potential).|EF-hand 4.					extracellular region|transport vesicle membrane	calcium ion binding			ovary(2)|pancreas(1)	3						TAAAGATGGTCGGTTGGATCT	0.338													T	25682209	C	T	25682209	3	4	104	1	0	0	0	0	1	0	0	0	13903	875	31	1	528	1	SCGN	6	25682209	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	897528	25682209	145432858	2632	69246											
HFE	3077	broad.mit.edu	37	chr6	26092943	26092943	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaggtgacacatcatgTgacctcttcagtgaccactc	10	11	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:26092943T>C	uc003nfx.1	+	4	807	c.647T>C	c.(646-648)GTG>GCG	p.V216A	HFE_uc003nfy.1_Missense_Mutation_p.V193A|HFE_uc010jqe.1_Intron|HFE_uc003nfz.1_Missense_Mutation_p.V128A|HFE_uc003ngd.1_Intron|HFE_uc003nga.1_Intron|HFE_uc003ngb.1_Intron|HFE_uc003ngc.1_Missense_Mutation_p.V124A|HFE_uc003nge.1_Missense_Mutation_p.V36A|HFE_uc003ngf.1_Intron	NM_000410	NP_000401	Q30201	HFE_HUMAN	hemochromatosis protein isoform 1 precursor	216	Alpha-3.|Ig-like C1-type.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding				0						ACACATCATGTGACCTCTTCA	0.512									Hemochromatosis				C	26092943	T	C	26092943	3	2	104	1	0	0	0	0	1	0	0	0	7081	1696	59	3	661	3	HFE	6	26092943	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	410734	26092943	145022124	2633	69247											
HIST1H1E	3008	broad.mit.edu	37	chr6	26157150	26157150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcccgaaaaaggcgaaaGcagccaagccaaaaaaggcg	11	10	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:26157150G>A	uc003ngq.2	+	1	592	c.532G>A	c.(532-534)GCA>ACA	p.A178T	HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	histone cluster 1, H1e	178					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			large_intestine(1)|ovary(1)	2						AAAGGCGAAAGCAGCCAAGCC	0.582													A	26157150	G	A	26157150	3	1	104	1	0	0	0	0	1	0	0	0	7126	971	34	2	534	2	HIST1H1E	6	26157150	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	64207	26157150	144957917	2634	69248											
HIST1H3F	8968	broad.mit.edu	37	chr6	26250748	26250748	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccaccggtggctggcgcgCttttgcgagccgccttagtg	15	14	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:26250748C>A	uc003nhg.1	-	1	88	c.86G>T	c.(85-87)AGC>ATC	p.S29I	HIST1H2BH_uc003nhh.2_5'Flank	NM_021018	NP_066298	P68431	H31_HUMAN	histone cluster 1, H3f	29					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0						GGCTGGCGCGCTTTTGCGAGC	0.607													A	26250748	C	A	26250748	3	1	104	1	0	0	0	0	1	0	0	0	7160	797	28	5	328	5	HIST1H3F	6	26250748	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	93598	26250748	144864319	2635	69249											
BTN3A2	11118	broad.mit.edu	37	chr6	26373510	26373510	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttattttccagagagccTccaggaggaactcagtaagt	11	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:26373510T>C	uc010jqh.1	+	7	1182	c.923T>C	c.(922-924)CTC>CCC	p.L308P	BTN3A2_uc003nho.1_Missense_Mutation_p.L306P|BTN3A2_uc003nhp.2_Missense_Mutation_p.L308P|BTN3A2_uc011dkd.1_Missense_Mutation_p.L266P|BTN3A2_uc011dke.1_Missense_Mutation_p.L285P|BTN3A2_uc010jqi.1_Missense_Mutation_p.L306P	NM_007047	NP_008978	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2 precursor	308	Cytoplasmic (Potential).|Potential.					integral to membrane					0						CCAGAGAGCCTCCAGGAGGAA	0.398													C	26373510	T	C	26373510	3	2	104	1	0	0	0	0	1	0	0	0	1563	1551	54	3	941	3	BTN3A2	6	26373510	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	122762	26373510	144741557	2636	69250											
ZSCAN16	80345	broad.mit.edu	37	chr6	28097700	28097700	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agctcttattagacatcaaaGaattcataccgcaaataaac	4	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:28097700G>T	uc003nkm.2	+	4	1119	c.1019G>T	c.(1018-1020)AGA>ATA	p.R340I	uc010jqw.1_Intron|uc003nkk.1_Intron|uc003nkl.1_Intron	NM_025231	NP_079507	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	340	C2H2-type 4.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1						AGACATCAAAGAATTCATACC	0.363													T	28097700	G	T	28097700	3	4	104	1	0	0	0	0	1	0	0	0	18226	942	33	5	1029	5	ZSCAN16	6	28097700	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1724190	28097700	143017367	2637	69251											
ZNF323	64288	broad.mit.edu	37	chr6	28297521	28297521	+	Translation_Start_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagggataactgtgatttaaAattttctgatttaatcttcc	6	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:28297521A>C	uc003nla.2	-	2	340	c.-60T>G	c.(-62--58)ATTTT>ATGTT		ZNF323_uc003nld.2_Intron|ZNF323_uc010jra.2_Intron|ZNF323_uc003nlb.2_Intron|ZNF323_uc010jrb.2_Intron|ZNF323_uc003nlc.2_Translation_Start_Site	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN	zinc finger protein 323						viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						TGTGATTTAAAATTTTCTGAT	0.338													C	28297521	A	C	28297521	1	2	104	1	0	0	0	0	0	0	0	0	17840	29	1	5		5	ZNF323	6	28297521	Translation_Start_Site	SNP	A	TCGA-BR-8680-01A-11D-2394-08	199821	28297521	142817546	2638	69252											
GPX5	2880	broad.mit.edu	37	chr6	28499606	28499606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatggtctagttgtgttggGctttccctgcaaccaatttg	10	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:28499606G>A	uc003nll.2	+	3	295	c.293G>A	c.(292-294)GGC>GAC	p.G98D	GPX5_uc003nlm.2_Intron|GPX5_uc003nln.2_Intron	NM_001509	NP_001500	O75715	GPX5_HUMAN	glutathione peroxidase 5 isoform 1 precursor	98					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			skin(1)	1					Glutathione(DB00143)	GTTGTGTTGGGCTTTCCCTGC	0.473													A	28499606	G	A	28499606	3	1	104	1	0	0	0	0	1	0	0	0	6743	1203	42	2	303	2	GPX5	6	28499606	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	202085	28499606	142615461	2639	69253											
SCAND3	114821	broad.mit.edu	37	chr6	28540442	28540442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaacactaagagttcatttCgtatttcaaacattcttgac	5	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:28540442C>T	uc003nlo.2	-	4	3842	c.3224G>A	c.(3223-3225)CGA>CAA	p.R1075Q		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1075					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						gagttcatttcgtatttcaaa	0													T	28540442	C	T	28540442	3	4	104	1	0	0	0	0	1	0	0	0	13876	884	31	1	757	1	SCAND3	6	28540442	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	40836	28540442	142574625	2640	69254											
SCAND3	114821	broad.mit.edu	37	chr6	28541080	28541080	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtggtacctgagctaccttCtttgctgcagattcacccaa	8	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:28541080C>A	uc003nlo.2	-	4	3204	c.2586G>T	c.(2584-2586)AAG>AAT	p.K862N		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	862					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						gagctaccttctttgctgcag	0													A	28541080	C	A	28541080	3	1	104	1	0	0	0	0	1	0	0	0	13876	912	32	5	1395	5	SCAND3	6	28541080	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	638	28541080	142573987	2641	69255											
SCAND3	114821	broad.mit.edu	37	chr6	28541478	28541478	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttccgagtgaaactagcatGaactcttttggttttccctt	7	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:28541478G>T	uc003nlo.2	-	4	2806	c.2188C>A	c.(2188-2190)CAT>AAT	p.H730N		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	730					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						aaactagcatgaactcttttg	0													T	28541478	G	T	28541478	3	4	104	1	0	0	0	0	1	0	0	0	13876	1290	45	5	1793	5	SCAND3	6	28541478	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	398	28541478	142573589	2642	69256											
OR11A1	26531	broad.mit.edu	37	chr6	29394947	29394947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagggccacaaccagtcCatctaccacaaatccagaga	6	16	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:29394947C>T	uc003nmg.2	-	1	563	c.472G>A	c.(472-474)GGA>AGA	p.G158R		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ACAACCAGTCCATCTACCACA	0.567													T	29394947	C	T	29394947	3	4	104	1	0	0	0	0	1	0	0	0	10924	603	21	4	479	4	OR11A1	6	29394947	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	853469	29394947	141720120	2643	69257											
OR10C1	442194	broad.mit.edu	37	chr6	29408578	29408578	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatctatattcgccctaaGgccagctacgatccggccac	7	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:29408578G>A	uc011dlp.1	+	1	786	c.786G>A	c.(784-786)AAG>AAA	p.K262K	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTCGCCCTAAGGCCAGCTACG	0.587													A	29408578	G	A	29408578	2	1	104	1	0	0	0	0	0	0	0	1	10898	991	35	4		4	OR10C1	6	29408578	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13631	29408578	141706489	2644	69258											
MAS1L	116511	broad.mit.edu	37	chr6	29455512	29455512	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgcatatgtatggtttcattCgtctcattttgaagaaagac	8	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:29455512C>A	uc011dlq.1	-	1	168	c.168G>T	c.(166-168)ACG>ACT	p.T56T		NM_052967	NP_443199	P35410	MAS1L_HUMAN	MAS1 oncogene-like	56	Extracellular (Potential).					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			ovary(7)|lung(2)	9						TGGTTTCATTCGTCTCATTTT	0.522													A	29455512	C	A	29455512	2	1	104	1	0	0	0	0	0	0	0	1	9321	871	31	5		5	MAS1L	6	29455512	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	46934	29455512	141659555	2645	69259											
OR2H2	7932	broad.mit.edu	37	chr6	29556646	29556646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggggaaggaaatggggCtcacacaaagctgagggaga	17	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:29556646C>T	uc003nmr.1	+	1	964	c.925C>T	c.(925-927)CTC>TTC	p.L309F	GABBR1_uc003nmp.3_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H,	309	Cytoplasmic (Potential).			MGLTQS -> RDSRESWRAA (in Ref. 1; AAB36567).	defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GGAAATGGGGCTCACACAAAG	0.483													T	29556646	C	T	29556646	3	4	104	1	0	0	0	0	1	0	0	0	11002	797	28	2	927	2	OR2H2	6	29556646	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	101134	29556646	141558421	2646	69260											
TRIM10	10107	broad.mit.edu	37	chr6	30121843	30121843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaaggtgtagatgggctctCgggtgacagcgttggtgaag	18	5	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:30121843C>T	uc003npo.3	-	7	1425	c.1349G>A	c.(1348-1350)CGA>CAA	p.R450Q	TRIM10_uc003npn.2_Intron	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	tripartite motif-containing 10 isoform 1	450	B30.2/SPRY.					cytoplasm	zinc ion binding				0						GATGGGCTCTCGGGTGACAGC	0.597													T	30121843	C	T	30121843	3	4	104	1	0	0	0	0	1	0	0	0	16483	884	31	1	188	1	TRIM10	6	30121843	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	565197	30121843	140993224	2647	69261											
TRIM39	56658	broad.mit.edu	37	chr6	30314232	30314232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggggacagcgctggaccGtacagacctgcctaacatgc	13	13	0	1	rs148620646	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:30314232G>A	uc010jsa.1	+	9	1319	c.1312G>A	c.(1312-1314)GTA>ATA	p.V438I	RPP21_uc003nqd.1_Missense_Mutation_p.V112I|RPP21_uc003nqe.1_Missense_Mutation_p.V89I|RPP21_uc003nqf.1_Missense_Mutation_p.V89I	NM_172016	NP_742013	Q9HCM9	TRI39_HUMAN	tripartite motif-containing 39 isoform 2	Error:Variant_position_missing_in_Q9HCM9_after_alignment					apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding			ovary(3)	3						GCGCTGGACCGTACAGACCTG	0.572													A	30314232	G	A	30314232	3	1	104	1	0	0	0	0	1	0	0	0	16510	1145	40	1		1	TRIM39	6	30314232	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	192389	30314232	140800835	2648	69262											
HLA-E	3133	broad.mit.edu	37	chr6	30458020	30458020	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctaaggggcggggccagggtCtcacaccctgcagtggatgc	16	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:30458020C>A	uc003nqg.2	+	3	376	c.338C>A	c.(337-339)TCT>TAT	p.S113Y	HLA-E_uc011dmg.1_Intron|HLA-E_uc011dmh.1_Missense_Mutation_p.S154Y	NM_005516	NP_005507	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	113	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(4)|ovary(1)	5						GGGCCAGGGTCTCACACCCTG	0.637													A	30458020	C	A	30458020	3	1	104	1	0	0	0	0	1	0	0	0	7210	913	32	5	348	5	HLA-E	6	30458020	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	143788	30458020	140657047	2649	69263											
PPP1R10	5514	broad.mit.edu	37	chr6	30577694	30577694	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtccaggcccttgagaagttCtttggggtctatgggacccg	14	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:30577694C>A	uc003nqn.1	-	3	580	c.28G>T	c.(28-30)GAA>TAA	p.E10*	PPP1R10_uc010jsc.1_5'UTR	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	10	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						TTGAGAAGTTCTTTGGGGTCT	0.478													A	30577694	C	A	30577694	4	1	104	1	0	0	0	0	0	1	0	0	12352	922	32	5	2866	5	PPP1R10	6	30577694	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	119674	30577694	140537373	2650	69264											
MDC1	9656	broad.mit.edu	37	chr6	30673264	30673264	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgacagaggatctattTtttcttcccctagtagcctg	8	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:30673264T>G	uc003nrg.3	-	10	4136	c.3696A>C	c.(3694-3696)AAA>AAC	p.K1232N	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.K839N	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1232	Pro-rich.|Interaction with the PRKDC complex.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						AGGATCTATTTTTTCTTCCCC	0.572								Other_conserved_DNA_damage_response_genes					G	30673264	T	G	30673264	3	3	104	1	0	0	0	0	1	0	0	0	9403	1838	64	5	2597	5	MDC1	6	30673264	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	95570	30673264	140441803	2651	69265											
DDR1	780	broad.mit.edu	37	chr6	30863249	30863249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtccccctcgaggcccgGgcccccccacacccgcctgg	10	25	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:30863249G>A	uc003nrr.2	+	13	1841	c.1582G>A	c.(1582-1584)GGC>AGC	p.G528S	DDR1_uc010jse.2_Intron|DDR1_uc003nrq.2_Intron|DDR1_uc003nrs.2_Missense_Mutation_p.G528S|DDR1_uc003nrt.2_Intron|DDR1_uc011dms.1_Intron|DDR1_uc003nru.2_Intron|DDR1_uc003nrv.2_Missense_Mutation_p.G528S|DDR1_uc003nrw.1_Silent_p.R299R|DDR1_uc003nry.1_Intron|DDR1_uc003nrx.1_Intron|DDR1_uc003nrz.1_5'Flank	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	528	Gly/Pro-rich.|Cytoplasmic (Potential).				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	TCGAGGCCCGGGCCCCCCCAC	0.692													A	30863249	G	A	30863249	3	1	104	1	0	0	0	0	1	0	0	0	4336	1232	43	4	1624	4	DDR1	6	30863249	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	189985	30863249	140251818	2652	69266											
VARS2	57176	broad.mit.edu	37	chr6	30884684	30884684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagatctgtgagcagctgcGagctctgggtgcctccctgg	15	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:30884684G>A	uc003nsc.1	+	7	1333	c.701G>A	c.(700-702)CGA>CAA	p.R234Q	VARS2_uc003nsd.2_Missense_Mutation_p.R234Q|VARS2_uc011dmx.1_Missense_Mutation_p.R234Q|VARS2_uc011dmy.1_Missense_Mutation_p.R94Q|VARS2_uc011dmz.1_Missense_Mutation_p.R264Q|VARS2_uc011dna.1_Missense_Mutation_p.R234Q|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'Flank|VARS2_uc010jsg.1_5'Flank	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	234					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						GAGCAGCTGCGAGCTCTGGGT	0.428													A	30884684	G	A	30884684	3	1	104	1	0	0	0	0	1	0	0	0	17121	1058	37	1	821	1	VARS2	6	30884684	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	21435	30884684	140230383	2653	69267											
C2	717	broad.mit.edu	37	chr6	31901481	31901481	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtccgctatcgctgctcctcGaatcttgtgctcacggggtc	11	14	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:31901481G>A	uc003nyf.2	+	4	801	c.537G>A	c.(535-537)TCG>TCA	p.S179S	C2_uc003nyc.2_Missense_Mutation_p.R11Q|C2_uc011doo.1_Missense_Mutation_p.R11Q|C2_uc011dop.1_Silent_p.S56S|C2_uc003nye.3_Silent_p.S179S|C2_uc010jtk.2_Silent_p.S47S|C2_uc011doq.1_Silent_p.S150S|C2_uc003nyg.2_Silent_p.S47S|CFB_uc011dor.1_Silent_p.S117S	NM_000063	NP_000054	P06681	CO2_HUMAN	complement component 2 isoform 1 preproprotein	179	Sushi 3.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space	serine-type endopeptidase activity			ovary(1)|skin(1)	2		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GCTGCTCCTCGAATCTTGTGC	0.652													A	31901481	G	A	31901481	2	1	104	1	0	0	0	0	0	0	0	1	2074	1045	37	1		1	C2	6	31901481	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1016797	31901481	139213586	2654	69268											
TNXB	7148	broad.mit.edu	37	chr6	32036213	32036213	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccatgcgctggccaccgtgGaagccgtacaggttcatctt	11	14	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:32036213G>A	uc003nzl.2	-	17	6376	c.6174C>T	c.(6172-6174)TTC>TTT	p.F2058F		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2140	Fibronectin type-III 13.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GGCCACCGTGGAAGCCGTACA	0.632													A	32036213	G	A	32036213	2	1	104	1	0	0	0	0	0	0	0	1	16343	1165	41	4		4	TNXB	6	32036213	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	134732	32036213	139078854	2655	69269											
TNXB	7148	broad.mit.edu	37	chr6	32047025	32047025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtccagaagaggctcagcGaatcaggggaggatcctgtc	15	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:32047025G>A	uc003nzl.2	-	11	4362	c.4160C>T	c.(4159-4161)TCG>TTG	p.S1387L		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1474	Fibronectin type-III 7.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GAGGCTCAGCGAATCAGGGGA	0.687													A	32047025	G	A	32047025	3	1	104	1	0	0	0	0	1	0	0	0	16343	1059	37	1	10689	1	TNXB	6	32047025	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	10812	32047025	139068042	2656	69270											
TNXB	7148	broad.mit.edu	37	chr6	32065029	32065029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgggaaagcacacgcaacGaccacggacacagcgaccct	11	16	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:32065029G>A	uc003nzl.2	-	3	803	c.601C>T	c.(601-603)CGT>TGT	p.R201C		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	201	EGF-like 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CACACGCAACGACCACGGACA	0.657													A	32065029	G	A	32065029	3	1	104	1	0	0	0	0	1	0	0	0	16343	1058	37	1	14280	1	TNXB	6	32065029	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	18004	32065029	139050038	2657	69271											
PPT2	9374	broad.mit.edu	37	chr6	32130710	32130710	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccctttatgagacctgcattGaaccttggctctcctgagga	9	12	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:32130710G>T	uc003nzx.2	+	9	1460	c.892G>T	c.(892-894)GAA>TAA	p.E298*	PPT2_uc003nzw.2_Nonsense_Mutation_p.E304*|PPT2_uc011dpi.1_Intron|PPT2_uc003nzy.1_Intron|PPT2_uc003nzz.2_Nonsense_Mutation_p.E298*|PPT2_uc003oaa.2_Nonsense_Mutation_p.E298*|PPT2_uc010jtu.1_Intron|EGFL8_uc003oac.1_5'Flank|EGFL8_uc003oab.1_5'Flank	NM_005155	NP_005146	Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2 isoform a	298					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity				0						GACCTGCATTGAACCTTGGCT	0.562													T	32130710	G	T	32130710	4	4	104	1	0	0	0	0	0	1	0	0	12412	1291	45	5	944	5	PPT2	6	32130710	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	65681	32130710	138984357	2658	69272											
AGER	177	broad.mit.edu	37	chr6	32150740	32150740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggggtcaccattagctccGactgcagtgtgaagagccct	12	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:32150740G>A	uc003oal.1	-	6	593	c.569C>T	c.(568-570)TCG>TTG	p.S190L	AGER_uc003oak.1_5'Flank|AGER_uc003oar.2_Missense_Mutation_p.S89L|AGER_uc011dpm.1_Missense_Mutation_p.S89L|AGER_uc011dpn.1_Missense_Mutation_p.S89L|AGER_uc010jtv.1_Missense_Mutation_p.S190L|AGER_uc011dpo.1_Missense_Mutation_p.S103L|AGER_uc003oam.1_Intron|AGER_uc003oan.1_Missense_Mutation_p.S176L|AGER_uc003oap.1_Missense_Mutation_p.S206L|AGER_uc003oat.1_Missense_Mutation_p.S206L|AGER_uc003oao.1_RNA|AGER_uc003oaq.1_Missense_Mutation_p.S176L|AGER_uc010jtw.1_RNA|AGER_uc003oas.1_Missense_Mutation_p.S190L|AGER_uc003oau.1_Missense_Mutation_p.S190L|AGER_uc011dpp.1_Missense_Mutation_p.S190L|AGER_uc011dpq.1_Missense_Mutation_p.S206L	NM_001136	NP_001127	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific	190	Extracellular (Potential).|Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)	1						CATTAGCTCCGACTGCAGTGT	0.597													A	32150740	G	A	32150740	3	1	104	1	0	0	0	0	1	0	0	0	379	1059	37	1	698	1	AGER	6	32150740	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	20030	32150740	138964327	2659	69273											
C6orf10	10665	broad.mit.edu	37	chr6	32307386	32307386	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggaaacttacaaggaggttCttcagttgtttgtaaacatt	10	5	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:32307386C>A	uc011dpy.1	-	10	552	c.379G>T	c.(379-381)GAA>TAA	p.E127*	C6orf10_uc011dpz.1_Nonsense_Mutation_p.E111*	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	127						integral to membrane				skin(1)	1						CAAGGAGGTTCTTCAGTTGTT	0.214													A	32307386	C	A	32307386	4	1	104	1	0	0	0	0	0	1	0	0	2317	922	32	5	1072	5	C6orf10	6	32307386	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	156646	32307386	138807681	2660	69274											
HLA-DMB	3109	broad.mit.edu	37	chr6	32905115	32905115	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggcatgacaagcttcccGttcttcctccacgtgatagt	9	12	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:32905115G>A	uc003ocl.1	-	3	689	c.456C>T	c.(454-456)AAC>AAT	p.N152N	HLA-DMB_uc003ocj.1_3'UTR|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_Silent_p.N21N|HLA-DMB_uc010jue.1_Silent_p.N21N|HLA-DMB_uc010juf.1_Silent_p.N21N|HLA-DMB_uc011dql.1_Silent_p.N152N	NM_002118	NP_002109	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM	152	Lumenal (Potential).|Ig-like C1-type.|Beta-2.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex					0						CAAGCTTCCCGTTCTTCCTCC	0.537													A	32905115	G	A	32905115	2	1	104	1	0	0	0	0	0	0	0	1	7199	1136	40	1		1	HLA-DMB	6	32905115	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	597729	32905115	138209952	2661	69275											
HLA-DOA	3111	broad.mit.edu	37	chr6	32975854	32975854	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatgggctttgattgcggcGatgccggccagcccgccctg	15	13	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:32975854G>A	uc003ocr.2	-	2	343	c.267C>T	c.(265-267)ATC>ATT	p.I89I	HLA-DOA_uc010juj.2_Silent_p.I59I|HLA-DOA_uc010jui.2_Silent_p.I89I	NM_002119	NP_002110	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO	89	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0						TGATTGCGGCGATGCCGGCCA	0.642													A	32975854	G	A	32975854	2	1	104	1	0	0	0	0	0	0	0	1	7200	1048	37	1		1	HLA-DOA	6	32975854	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	70739	32975854	138139213	2662	69276											
COL11A2	1302	broad.mit.edu	37	chr6	33132248	33132248	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccctctgagtccacgtaagaGaactggaaggagagagaggg	15	8	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:33132248G>T	uc003ocx.1	-	65	5094	c.4866C>A	c.(4864-4866)TTC>TTA	p.F1622L	COL11A2_uc010jul.1_Missense_Mutation_p.F192L|COL11A2_uc003ocy.1_Missense_Mutation_p.F1536L|COL11A2_uc003ocz.1_Missense_Mutation_p.F1515L	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1622	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						CCACGTAAGAGAACTGGAAGG	0.642													T	33132248	G	T	33132248	3	4	104	1	0	0	0	0	1	0	0	0	3668	933	33	5	352	5	COL11A2	6	33132248	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	156394	33132248	137982819	2663	69277											
RGL2	5863	broad.mit.edu	37	chr6	33260034	33260034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgctgccgcaggaggaaatCgtgtgaagctccatccatgg	13	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:33260034C>T	uc003odv.2	-	18	2312	c.2179G>A	c.(2179-2181)GAT>AAT	p.D727N	RGL2_uc003odu.2_Missense_Mutation_p.D287N|RGL2_uc010jur.2_Missense_Mutation_p.D287N|RGL2_uc003odw.2_Missense_Mutation_p.D645N	NM_004761	NP_004752	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation	727	Ras-associating.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			skin(3)|lung(1)|breast(1)|pancreas(1)	6						AGGAGGAAATCGTGTGAAGCT	0.577													T	33260034	C	T	33260034	3	4	104	1	0	0	0	0	1	0	0	0	13277	884	31	1	158	1	RGL2	6	33260034	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	127786	33260034	137855033	2664	69278											
DAXX	1616	broad.mit.edu	37	chr6	33287518	33287518	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtaacgatggtgacactaTgcgtcctttgttttgctgct	10	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:33287518T>C	uc003oec.2	-	6	1783	c.1579A>G	c.(1579-1581)ATA>GTA	p.I527V	ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Missense_Mutation_p.I452V|DAXX_uc011dre.1_Missense_Mutation_p.I539V|DAXX_uc003oed.2_Missense_Mutation_p.I527V	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	527	Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						GGTGACACTATGCGTCCTTTG	0.517			Mis|F|N		Pancreatic neuroendocrine tumors								C	33287518	T	C	33287518	3	2	104	1	0	0	0	0	1	0	0	0	4243	1464	51	3	655	3	DAXX	6	33287518	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	27484	33287518	137827549	2665	69279											
ZBTB9	221504	broad.mit.edu	37	chr6	33423510	33423510	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgctgcaaattcaggtGgaagaagaagaggaggagga	17	3	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:33423510G>A	uc003oeq.2	+	2	901	c.633G>A	c.(631-633)GTG>GTA	p.V211V		NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAATTCaggtggaagaagaag	0.438													A	33423510	G	A	33423510	2	1	104	1	0	0	0	0	0	0	0	1	17555	1335	47	4		4	ZBTB9	6	33423510	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	135992	33423510	137691557	2666	69280											
C6orf1	221491	broad.mit.edu	37	chr6	34214882	34214882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgcagttcctcagctgggTcatagctgtacatggggagc	13	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:34214882T>C	uc003ojf.2	-	4	656	c.64A>G	c.(64-66)ACC>GCC	p.T22A	uc003oje.1_5'Flank|C6orf1_uc003ojg.2_Missense_Mutation_p.T22A|C6orf1_uc003ojh.2_Missense_Mutation_p.T22A|C6orf1_uc003oji.2_RNA	NM_178508	NP_848603	Q86T20	CF001_HUMAN	hypothetical protein LOC221491 precursor	22						extracellular region					0		Ovarian(999;0.0228)		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)		CTCAGCTGGGTCATAGCTGTA	0.627													C	34214882	T	C	34214882	3	2	104	1	0	0	0	0	1	0	0	0	2316	1667	58	3	423	3	C6orf1	6	34214882	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	791372	34214882	136900185	2667	69281											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34802027	34802027	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgaaaaggtggtggaaggGatgttcatcattgtcaattc	13	6	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:34802027G>A	uc003oju.3	+	5	606	c.372G>A	c.(370-372)GGG>GGA	p.G124G	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	124										ovary(3)	3						TGGTGGAAGGGATGTTCATCA	0.433													A	34802027	G	A	34802027	2	1	104	1	0	0	0	0	0	0	0	1	16965	1161	41	4		4	UHRF1BP1	6	34802027	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	587145	34802027	136313040	2668	69282											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34840168	34840168	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgccaaccaggataaagaaAaacttcttcaggagattagg	9	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:34840168A>C	uc003oju.3	+	21	4510	c.4276A>C	c.(4276-4278)AAA>CAA	p.K1426Q	UHRF1BP1_uc010jvm.1_Intron|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	1426	Potential.									ovary(3)	3						GGATAAAGAAAAACTTCTTCA	0.418													C	34840168	A	C	34840168	3	2	104	1	0	0	0	0	1	0	0	0	16965	15	1	5	4358	5	UHRF1BP1	6	34840168	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	38141	34840168	136274899	2669	69283											
ANKS1A	23294	broad.mit.edu	37	chr6	34953007	34953007	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatctgaccaagactccacGaacaaggaggctgaggcagc	11	12	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:34953007G>A	uc003ojx.3	+	8	1303	c.1161G>A	c.(1159-1161)ACG>ACA	p.T387T	ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	387						cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4						AAGACTCCACGAACAAGGAGG	0.587													A	34953007	G	A	34953007	2	1	104	1	0	0	0	0	0	0	0	1	688	1045	37	1		1	ANKS1A	6	34953007	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	112839	34953007	136162060	2670	69284											
SCUBE3	222663	broad.mit.edu	37	chr6	35213122	35213122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaaccccccacccaagcGcaagatccttatcgtggtac	6	17	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:35213122G>A	uc003okf.1	+	19	2525	c.2519G>A	c.(2518-2520)CGC>CAC	p.R840H	SCUBE3_uc003okg.1_Missense_Mutation_p.R839H|SCUBE3_uc003okh.1_Missense_Mutation_p.R727H	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	840	CUB.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						CCACCCAAGCGCAAGATCCTT	0.557													A	35213122	G	A	35213122	3	1	104	1	0	0	0	0	1	0	0	0	13946	1087	38	1	2593	1	SCUBE3	6	35213122	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	260115	35213122	135901945	2671	69285											
PPARD	5467	broad.mit.edu	37	chr6	35391736	35391736	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcagctatccgttttggTcggatgccggaggctgagaa	15	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:35391736T>C	uc003okm.2	+	6	747	c.438T>C	c.(436-438)GGT>GGC	p.G146G	PPARD_uc003okl.2_Silent_p.G146G|PPARD_uc003okn.2_Silent_p.G146G|PPARD_uc011dtb.1_Silent_p.G107G|PPARD_uc011dtc.1_Silent_p.G48G|PPARD_uc010jvv.1_RNA	NM_006238	NP_006229	Q03181	PPARD_HUMAN	peroxisome proliferative activated receptor,	146					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	TCCGTTTTGGTCGGATGCCGG	0.622													C	35391736	T	C	35391736	2	2	104	1	0	0	0	0	0	0	0	1	12298	1654	58	3		3	PPARD	6	35391736	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	178614	35391736	135723331	2672	69286											
FKBP5	2289	broad.mit.edu	37	chr6	35547912	35547912	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaaatgattcagaagctttCgattccttttctgataaacc	6	8	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:35547912C>T	uc011dte.1	-	9	1130	c.927G>A	c.(925-927)TCG>TCA	p.S309S	FKBP5_uc003okx.2_Silent_p.S309S|FKBP5_uc011dtf.1_Silent_p.S130S|FKBP5_uc003oky.2_Silent_p.S309S	NM_001145776	NP_001139248	Q13451	FKBP5_HUMAN	FK506 binding protein 5 isoform 1	309					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1						CAGAAGCTTTCGATTCCTTTT	0.433													T	35547912	C	T	35547912	2	4	104	1	0	0	0	0	0	0	0	1	5911	871	31	1		1	FKBP5	6	35547912	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	156176	35547912	135567155	2673	69287											
C6orf222	389384	broad.mit.edu	37	chr6	36288974	36288974	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acttcttggagaagtgccacAagcttctggatgatgatctc	10	9	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:36288974A>C	uc003oly.2	-	10	1804	c.1626T>G	c.(1624-1626)CTT>CTG	p.L542L		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	hypothetical protein LOC389384	542										skin(2)|ovary(1)|breast(1)	4						GAAGTGCCACAAGCTTCTGGA	0.517													C	36288974	A	C	36288974	2	2	104	1	0	0	0	0	0	0	0	1	2356	117	5	5		5	C6orf222	6	36288974	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	741062	36288974	134826093	2674	69288											
C6orf222	389384	broad.mit.edu	37	chr6	36298001	36298001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgtgaccttgcttcttgCggctgggcttcttgtcgtgg	13	10	3	1	rs141030977		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:36298001C>T	uc003oly.2	-	2	645	c.467G>A	c.(466-468)CGC>CAC	p.R156H		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	hypothetical protein LOC389384	156										skin(2)|ovary(1)|breast(1)	4						TTGCTTCTTGCGGCTGGGCTT	0.622													T	36298001	C	T	36298001	3	4	104	1	0	0	0	0	1	0	0	0	2356	768	27	1	1535	1	C6orf222	6	36298001	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	9027	36298001	134817066	2675	69289											
CPNE5	57699	broad.mit.edu	37	chr6	36767773	36767773	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggaggttctgcttctcctcGaaaaagtaatccacaatgaa	8	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:36767773G>A	uc003omr.1	-	4	325	c.258C>T	c.(256-258)TTC>TTT	p.F86F	CPNE5_uc003oms.1_Silent_p.F48F	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	copine V	86	C2 1.									skin(1)	1						GCTTCTCCTCGAAAAAGTAAT	0.517													A	36767773	G	A	36767773	2	1	104	1	0	0	0	0	0	0	0	1	3815	1049	37	1		1	CPNE5	6	36767773	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	469772	36767773	134347294	2676	69290											
MTCH1	23787	broad.mit.edu	37	chr6	36938221	36938221	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtcgccaactagcaggAaggggtaggtcagcatgctc	15	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:36938221A>G	uc003ond.1	-	10	983	c.983T>C	c.(982-984)TTC>TCC	p.F328S	MTCH1_uc003onc.1_Missense_Mutation_p.F311S|MTCH1_uc010jwo.1_RNA|MTCH1_uc003one.3_Missense_Mutation_p.F328S|MTCH1_uc011dtt.1_Missense_Mutation_p.F143S	NM_014341	NP_055156	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier homolog 1	328	Helical; (Potential).				activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding				0						AACTAGCAGGAAGGGGTAGGT	0.622													G	36938221	A	G	36938221	3	3	104	1	0	0	0	0	1	0	0	0	9913	246	9	3	198	3	MTCH1	6	36938221	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	170448	36938221	134176846	2677	69291											
DNAH8	1769	broad.mit.edu	37	chr6	38818056	38818056	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgttttcagaatattgacaaGtcttggataaaaataatgca	7	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:38818056G>T	uc003ooe.1	+	36	5178	c.4578G>T	c.(4576-4578)AAG>AAT	p.K1526N		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						ATATTGACAAGTCTTGGATAA	0.363													T	38818056	G	T	38818056	3	4	104	1	0	0	0	0	1	0	0	0	4607	1020	36	5	4712	5	DNAH8	6	38818056	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1879835	38818056	132297011	2678	69292											
DNAH8	1769	broad.mit.edu	37	chr6	38994321	38994321	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcttctttttttctttaaGgcttcctcacagcaatgagg	6	10	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:38994321G>T	uc003ooe.1	+	90	13664	c.13064_splice	c.e90-1	p.G4355_splice		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TTTTCTTTAAGGCTTCCTCAC	0.433													T	38994321	G	T	38994321	5	4	104	1	0	0	0	0	0	0	1	0	4607	1014	35	5	13413	5	DNAH8	6	38994321	Splice_Site	SNP	G	TCGA-BR-8680-01A-11D-2394-08	176265	38994321	132120746	2679	69293											
GLP1R	2740	broad.mit.edu	37	chr6	39046914	39046914	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcctcatctttgttcgggtCatctgcatcgtggtatccaa	8	11	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:39046914C>A	uc003ooj.3	+	10	1041	c.981C>A	c.(979-981)GTC>GTA	p.V327V	GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA	NM_002062	NP_002053	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor precursor	327	Helical; Name=5; (Potential).				activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			lung(3)|breast(1)|pancreas(1)	5					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TTGTTCGGGTCATCTGCATCG	0.557													A	39046914	C	A	39046914	2	1	104	1	0	0	0	0	0	0	0	1	6452	813	29	5		5	GLP1R	6	39046914	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	52593	39046914	132068153	2680	69294											
LRFN2	57497	broad.mit.edu	37	chr6	40359708	40359708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtgctctccatcacccattCggagctgccaaaagtccccc	7	18	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:40359708C>T	uc003oph.1	-	3	2809	c.2344G>A	c.(2344-2346)GAA>AAA	p.E782K		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	782	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATCACCCATTCGGAGCTGCCA	0.597													T	40359708	C	T	40359708	3	4	104	1	0	0	0	0	1	0	0	0	8938	893	31	1	29	1	LRFN2	6	40359708	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1312794	40359708	130755359	2681	69295											
BYSL	705	broad.mit.edu	37	chr6	41898422	41898422	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaggcatttaagatcaTccctgcactctccaactggg	8	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:41898422T>C	uc003orl.2	+	4	956	c.620T>C	c.(619-621)ATC>ACC	p.I207T		NM_004053	NP_004044	Q13895	BYST_HUMAN	bystin	207					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus					0	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTTAAGATCATCCCTGCACTC	0.512													C	41898422	T	C	41898422	3	2	104	1	0	0	0	0	1	0	0	0	1576	1435	50	3	634	3	BYSL	6	41898422	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1538714	41898422	129216645	2682	69296											
PRPH2	5961	broad.mit.edu	37	chr6	42666207	42666207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttggacacaccatccagCgacgtctgtaggtagcgcag	14	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:42666207C>T	uc003osk.2	-	3	1153	c.867G>A	c.(865-867)TCG>TCA	p.S289S		NM_000322	NP_000313	P23942	PRPH2_HUMAN	peripherin 2	289	Helical; (Potential).				cell adhesion|visual perception	integral to membrane				ovary(4)|central_nervous_system(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CACCATCCAGCGACGTCTGTA	0.587													T	42666207	C	T	42666207	2	4	104	1	0	0	0	0	0	0	0	1	12577	755	27	1		1	PRPH2	6	42666207	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	767785	42666207	128448860	2683	69297											
GNMT	27232	broad.mit.edu	37	chr6	42931424	42931424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccctgctacttcatccacGtgctcaagaggacagactga	8	13	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:42931424G>A	uc003otd.2	+	6	874	c.868G>A	c.(868-870)GTG>ATG	p.V290M	uc003ote.1_5'Flank	NM_018960	NP_061833	Q14749	GNMT_HUMAN	glycine N-methyltransferase	290					protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process		folic acid binding|glycine binding|glycine N-methyltransferase activity				0	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	CTTCATCCACGTGCTCAAGAG	0.597													A	42931424	G	A	42931424	3	1	104	1	0	0	0	0	1	0	0	0	6540	1145	40	1	890	1	GNMT	6	42931424	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	265217	42931424	128183643	2684	69298											
PPP2R5D	5528	broad.mit.edu	37	chr6	42978669	42978669	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccccctgtgtactcgatggaGacagagacccccacagctga	10	15	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:42978669G>A	uc003oth.2	+	15	1691	c.1605G>A	c.(1603-1605)GAG>GAA	p.E535E	MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Silent_p.E503E|PPP2R5D_uc010jyd.2_Silent_p.E429E|PPP2R5D_uc011dva.1_Silent_p.E384E|PPP2R5D_uc003oti.2_Silent_p.E384E|PPP2R5D_uc003otj.2_Silent_p.E366E	NM_006245	NP_006236	Q14738	2A5D_HUMAN	delta isoform of regulatory subunit B56, protein	535					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(1)|central_nervous_system(1)	2			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ACTCGATGGAGACAGAGACCC	0.567													A	42978669	G	A	42978669	2	1	104	1	0	0	0	0	0	0	0	1	12395	933	33	4		4	PPP2R5D	6	42978669	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	47245	42978669	128136398	2685	69299											
MRPL2	51069	broad.mit.edu	37	chr6	43024071	43024071	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatcatagcggacttggatAaccttctcctcaaagggtcc	10	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:43024071A>C	uc003ots.1	-	3	501	c.378T>G	c.(376-378)GTT>GTG	p.V126V	CUL7_uc011dvb.1_5'Flank|CUL7_uc003otq.2_5'Flank|CUL7_uc010jyh.2_5'Flank|KLC4_uc003otr.1_Intron|MRPL2_uc011dvc.1_Silent_p.V126V	NM_015950	NP_057034	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2 precursor	126					translation	mitochondrion|ribosome	structural constituent of ribosome				0		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		GGACTTGGATAACCTTCTCCT	0.507													C	43024071	A	C	43024071	2	2	104	1	0	0	0	0	0	0	0	1	9785	349	13	5		5	MRPL2	6	43024071	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	45402	43024071	128090996	2686	69300											
CUL9	23113	broad.mit.edu	37	chr6	43156447	43156447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctggtccgtcctgacagatCgctgaggttagcatactggg	13	10	1	3	rs79064744	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:43156447C>T	uc003ouk.2	+	8	2249	c.2174C>T	c.(2173-2175)TCG>TTG	p.S725L	CUL9_uc003ouj.1_3'UTR|CUL9_uc003oul.2_Missense_Mutation_p.S725L|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_3'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	725					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						CCTGACAGATCGCTGAGGTTA	0.547													T	43156447	C	T	43156447	3	4	104	1	0	0	0	0	1	0	0	0	4061	893	31	1	2200	1	CUL9	6	43156447	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	132376	43156447	127958620	2687	69301											
CUL9	23113	broad.mit.edu	37	chr6	43166427	43166427	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggttgggggcccatctgcaGaactactcctggacttggag	14	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:43166427G>T	uc003ouk.2	+	12	2959	c.2884G>T	c.(2884-2886)GAA>TAA	p.E962*	CUL9_uc003oul.2_Nonsense_Mutation_p.E962*|CUL9_uc010jyk.2_Nonsense_Mutation_p.E114*	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	962					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						CCCATCTGCAGAACTACTCCT	0.632													T	43166427	G	T	43166427	4	4	104	1	0	0	0	0	0	1	0	0	4061	943	33	5	2926	5	CUL9	6	43166427	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	9980	43166427	127948640	2688	69302											
ZNF318	24149	broad.mit.edu	37	chr6	43306479	43306479	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttatcctggttaacagattCtctgaggtggatttctacca	8	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:43306479C>A	uc003oux.2	-	10	5335	c.5257G>T	c.(5257-5259)GAA>TAA	p.E1753*	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1753					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTAACAGATTCTCTGAGGTGG	0.433													A	43306479	C	A	43306479	4	1	104	1	0	0	0	0	0	1	0	0	17833	922	32	5	1586	5	ZNF318	6	43306479	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	140052	43306479	127808588	2689	69303											
ZNF318	24149	broad.mit.edu	37	chr6	43323460	43323460	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcttcttcatccccatagaGaaatttctcctcatcttcaa	2	14	7	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:43323460G>T	uc003oux.2	-	4	1690	c.1612C>A	c.(1612-1614)CTC>ATC	p.L538I	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	538					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCCCCATAGAGAAATTTCTCC	0.483													T	43323460	G	T	43323460	3	4	104	1	0	0	0	0	1	0	0	0	17833	942	33	5	5255	5	ZNF318	6	43323460	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	16981	43323460	127791607	2690	69304											
ZNF318	24149	broad.mit.edu	37	chr6	43323494	43323494	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaatgtcgggaaagctAcgtcgccttttttcctgtgt	9	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:43323494A>G	uc003oux.2	-	4	1656	c.1578T>C	c.(1576-1578)CGT>CGC	p.R526R	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	526					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CGGGAAAGCTACGTCGCCTTT	0.493													G	43323494	A	G	43323494	2	3	104	1	0	0	0	0	0	0	0	1	17833	378	14	3		3	ZNF318	6	43323494	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	34	43323494	127791573	2691	69305											
ABCC10	89845	broad.mit.edu	37	chr6	43400462	43400462	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcagcctcaggacatttgCcgcctcccccacagactgca	9	18	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:43400462C>T	uc003ouy.1	+	3	959	c.744C>T	c.(742-744)TGC>TGT	p.C248C	ABCC10_uc003ouz.1_Silent_p.C205C	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	248						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGGACATTTGCCGCCTCCCCC	0.642													T	43400462	C	T	43400462	2	4	104	1	0	0	0	0	0	0	0	1	50	747	26	2		2	ABCC10	6	43400462	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	76968	43400462	127714605	2692	69306											
GTPBP2	54676	broad.mit.edu	37	chr6	43592340	43592340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccaggctgcttgaggAcccgctccagctggcgtact	14	14	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:43592340A>G	uc003ovs.2	-	7	1044	c.1007T>C	c.(1006-1008)GTC>GCC	p.V336A	GTPBP2_uc010jyv.2_Missense_Mutation_p.V248A|GTPBP2_uc003ovt.1_Missense_Mutation_p.V336A	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	336							GTP binding|GTPase activity			liver(1)|skin(1)	2	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CTGCTTGAGGACCCGCTCCAG	0.597													G	43592340	A	G	43592340	3	3	104	1	0	0	0	0	1	0	0	0	6880	275	10	3	825	3	GTPBP2	6	43592340	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	191878	43592340	127522727	2693	69307											
TMEM63B	55362	broad.mit.edu	37	chr6	44103088	44103088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcggcggcaggagagggaccGagtggaacaggaatagtatg	18	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:44103088G>A	uc003owr.2	+	4	327	c.263G>A	c.(262-264)CGA>CAA	p.R88Q	TMEM63B_uc003owq.1_Missense_Mutation_p.R88Q|TMEM63B_uc010jyy.1_Intron|TMEM63B_uc003ows.2_Intron	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	88						integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GAGAGGGACCGAGTGGAACAG	0.587													A	44103088	G	A	44103088	3	1	104	1	0	0	0	0	1	0	0	0	16188	1058	37	1	273	1	TMEM63B	6	44103088	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	510748	44103088	127011979	2694	69308											
TCTE1	202500	broad.mit.edu	37	chr6	44250104	44250104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactgggcaccgggtgcacGcacctggttgttagccaggt	16	11	0	0	rs114241529	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:44250104G>A	uc003oxi.2	-	4	1195	c.1039C>T	c.(1039-1041)CGT>TGT	p.R347C	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	t-complex-associated testis expressed 1	347	LRR 2.									ovary(2)|skin(2)	4	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCGGGTGCACGCACCTGGTTG	0.597													A	44250104	G	A	44250104	3	1	104	1	0	0	0	0	1	0	0	0	15714	1087	38	1	474	1	TCTE1	6	44250104	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	147016	44250104	126864963	2695	69309											
CDC5L	988	broad.mit.edu	37	chr6	44360556	44360556	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgcttagaacactatgAatttcttctgtaagtgagtc	8	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:44360556A>C	uc003oxl.2	+	3	561	c.302A>C	c.(301-303)GAA>GCA	p.E101A		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	101	H-T-H motif (By similarity).|HTH myb-type 2.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAACACTATGAATTTCTTCTG	0.388													C	44360556	A	C	44360556	3	2	104	1	0	0	0	0	1	0	0	0	3082	246	9	5	312	5	CDC5L	6	44360556	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	110452	44360556	126754511	2696	69310											
SLC25A27	9481	broad.mit.edu	37	chr6	46630234	46630234	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactggaaggaaaaccattgCggtaagttctccaattaacc	8	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:46630234C>T	uc003oyh.2	+	4	756	c.505C>T	c.(505-507)CGA>TGA	p.R169*	SLC25A27_uc011dwb.1_Nonsense_Mutation_p.R169*|SLC25A27_uc003oyg.2_Nonsense_Mutation_p.R169*|SLC25A27_uc011dwc.1_Nonsense_Mutation_p.R83*|SLC25A27_uc003oyi.2_Nonsense_Mutation_p.R99*	NM_004277	NP_004268	O95847	UCP4_HUMAN	solute carrier family 25, member 27	169	Solcar 2.				generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane					0			Lung(136;0.192)			AAAACCATTGCGGTAAGTTCT	0.398													T	46630234	C	T	46630234	4	4	104	1	0	0	0	0	0	1	0	0	14490	782	27	1	519	1	SLC25A27	6	46630234	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2269678	46630234	124484833	2697	69311											
TDRD6	221400	broad.mit.edu	37	chr6	46657305	46657305	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactcccagccttaagatcTatcaggttaaagatgaatgc	7	10	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:46657305T>G	uc003oyj.2	+	1	1440	c.1440T>G	c.(1438-1440)TCT>TCG	p.S480S	TDRD6_uc010jze.2_Silent_p.S474S	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	480					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			CCTTAAGATCTATCAGGTTAA	0.433													G	46657305	T	G	46657305	2	3	104	1	0	0	0	0	0	0	0	1	15731	1509	53	5		5	TDRD6	6	46657305	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	27071	46657305	124457762	2698	69312											
TDRD6	221400	broad.mit.edu	37	chr6	46660415	46660416	+	Frame_Shift_Ins	INS	-	-	C													cttaactggtataatccagaINSaaaaaaaatgataagagctt							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:46660415_46660416insC	uc003oyj.2	+	1	4550_4551	c.4550_4551insC	c.(4549-4551)GAAfs	p.E1517fs	TDRD6_uc010jze.2_Frame_Shift_Ins_p.E1511fs	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			TATAATCCAGAAAAAAAAATGA	0.356													C	46660416	-	C	46660415	7	5	104	1	0	1	1	0	0	0	0	0	15731	246	9	0	4552	0	TDRD6	6	46660415	Frame_Shift_Ins	INS	-	TCGA-BR-8680-01A-11D-2394-08	3110	46660415	124454652	2699	69313	320	2									
TDRD6	221400	broad.mit.edu	37	chr6	46660416	46660417	+	Frame_Shift_Ins	INS	-	-	C													ttaactggtataatccagaaINSaaaaaaatgataagagctta					rs145334816		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:46660415_46660416A>AC	uc003oyj.3	+	0	4804_4805	c.4550_4551A>AC	c.(4549-4551)gaafs	p.E1517fs	TDRD6_uc010jze.3_Frame_Shift_Ins_p.E1517fs	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1517					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TATAATCCAGAAAAAAAAATGA	0.356													C	46660417	-	C	46660416	7	5	104	1	0	1	1	0	0	0	0	0	15731	11	1	0	4553	0	TDRD6	6	46660416	Frame_Shift_Ins	INS	-	TCGA-BR-8680-01A-11D-2394-08	1	46660416	124454651	2700	69314	320	2									
PLA2G7	7941	broad.mit.edu	37	chr6	46677131	46677131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagaatgtccaattactgCtattttttccctatcaatag	4	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:46677131C>T	uc010jzf.2	-	9	1071	c.802G>A	c.(802-804)GCA>ACA	p.A268T	PLA2G7_uc010jzg.1_Missense_Mutation_p.A268T	NM_005084	NP_005075	Q13093	PAFA_HUMAN	phospholipase A2, group VII	268					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding				0			Lung(136;0.192)			CCAATTACTGCTATTTTTTCC	0.308													T	46677131	C	T	46677131	3	4	104	1	0	0	0	0	1	0	0	0	12009	797	28	2	539	2	PLA2G7	6	46677131	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	16715	46677131	124437936	2701	69315											
GPR116	221395	broad.mit.edu	37	chr6	46821800	46821800	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctggggtggaaacatTatacgttcctgaaaaacaga	10	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:46821800T>G	uc003oyo.3	-	21	4259	c.3970A>C	c.(3970-3972)AAT>CAT	p.N1324H	GPR116_uc011dwj.1_Missense_Mutation_p.N879H|GPR116_uc011dwk.1_3'UTR|GPR116_uc003oyp.3_Missense_Mutation_p.N1182H|GPR116_uc003oyq.3_Missense_Mutation_p.N1324H	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	1324	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			GTGGAAACATTATACGTTCCT	0.493													G	46821800	T	G	46821800	3	3	104	1	0	0	0	0	1	0	0	0	6633	1754	61	5	74	5	GPR116	6	46821800	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	144669	46821800	124293267	2702	69316											
GPR110	266977	broad.mit.edu	37	chr6	46996794	46996794	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccacagcactccaacttTcattttccctggactgaaca	6	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:46996794T>G	uc003oyt.2	-	2	203	c.4A>C	c.(4-6)AAA>CAA	p.K2Q	GPR110_uc011dwl.1_5'UTR|GPR110_uc003oyu.1_Missense_Mutation_p.K2Q	NM_153840	NP_722582	Q5T601	GP110_HUMAN	G-protein coupled receptor 110 isoform 1	2					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|pancreas(1)	3						ACTCCAACTTTCATTTTCCCT	0.488													G	46996794	T	G	46996794	3	3	104	1	0	0	0	0	1	0	0	0	6627	1792	62	5	2834	5	GPR110	6	46996794	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	174994	46996794	124118273	2703	69317											
MUT	4594	broad.mit.edu	37	chr6	49419394	49419394	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaatactgctgccattgcttCtattgcagtacggacaatat	7	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:49419394C>A	uc003ozg.3	-	6	1372	c.1117G>T	c.(1117-1119)GAA>TAA	p.E373*		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	373					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCCATTGCTTCTATTGCAGTA	0.368													A	49419394	C	A	49419394	4	1	104	1	0	0	0	0	0	1	0	0	9991	922	32	5	1167	5	MUT	6	49419394	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2422600	49419394	121695673	2704	69318											
TFAP2D	83741	broad.mit.edu	37	chr6	50696595	50696595	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctgtgtggtcaaccccacaGacttattttgctctgtccct	7	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:50696595G>T	uc003paf.2	+	4	1137	c.625G>T	c.(625-627)GAC>TAC	p.D209Y	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	209							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)					CAACCCCACAGACTTATTTTG	0.463													T	50696595	G	T	50696595	3	4	104	1	0	0	0	0	1	0	0	0	15787	942	33	5	639	5	TFAP2D	6	50696595	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1277201	50696595	120418472	2705	69319											
TFAP2B	7021	broad.mit.edu	37	chr6	50796360	50796360	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgccaataacagcggcaTgaatctattggaccagtctg	10	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:50796360T>C	uc003pag.2	+	3	735	c.569T>C	c.(568-570)ATG>ACG	p.M190T		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	190					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					AACAGCGGCATGAATCTATTG	0.328													C	50796360	T	C	50796360	3	2	104	1	0	0	0	0	1	0	0	0	15785	1464	51	3	579	3	TFAP2B	6	50796360	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	99765	50796360	120318707	2706	69320											
TFAP2B	7021	broad.mit.edu	37	chr6	50810818	50810818	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttgcaggcaactttgtaaaGaatttacggatctactggcg	10	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:50810818G>T	uc003pag.2	+	7	1262	c.1096G>T	c.(1096-1098)GAA>TAA	p.E366*		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	366				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					ACTTTGTAAAGAATTTACGGA	0.567													T	50810818	G	T	50810818	4	4	104	1	0	0	0	0	0	1	0	0	15785	943	33	5	1122	5	TFAP2B	6	50810818	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	14458	50810818	120304249	2707	69321											
PKHD1	5314	broad.mit.edu	37	chr6	51524753	51524753	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggtatgtacatttctgttCttctctaaatgtacctataa	5	7	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:51524753C>A	uc003pah.1	-	61	10447	c.10171G>T	c.(10171-10173)GAA>TAA	p.E3391*		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3391	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CATTTCTGTTCTTCTCTAAAT	0.348													A	51524753	C	A	51524753	4	1	104	1	0	0	0	0	0	1	0	0	11971	922	32	5	2081	5	PKHD1	6	51524753	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	713935	51524753	119590314	2708	69322											
PKHD1	5314	broad.mit.edu	37	chr6	51612618	51612618	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gattcctgaaattgaatgatCattcctcactttgtgccatg	7	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:51612618C>A	uc003pah.1	-	58	10072	c.9796G>T	c.(9796-9798)GAT>TAT	p.D3266Y	PKHD1_uc010jzn.1_Missense_Mutation_p.D1249Y|PKHD1_uc003pai.2_Missense_Mutation_p.D3266Y	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3266	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					ATTGAATGATCATTCCTCACT	0.408													A	51612618	C	A	51612618	3	1	104	1	0	0	0	0	1	0	0	0	11971	826	29	5	2507	5	PKHD1	6	51612618	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	87865	51612618	119502449	2709	69323											
PKHD1	5314	broad.mit.edu	37	chr6	51613035	51613035	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atagagatgaaggccatgaaGacttgaatgcgccacattgt	11	7	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:51613035G>A	uc003pah.1	-	58	9655	c.9379C>T	c.(9379-9381)CTT>TTT	p.L3127F	PKHD1_uc010jzn.1_Missense_Mutation_p.L1110F|PKHD1_uc003pai.2_Missense_Mutation_p.L3127F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3127	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					AGGCCATGAAGACTTGAATGC	0.468													A	51613035	G	A	51613035	3	1	104	1	0	0	0	0	1	0	0	0	11971	942	33	4	2924	4	PKHD1	6	51613035	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	417	51613035	119502032	2710	69324											
PKHD1	5314	broad.mit.edu	37	chr6	51747971	51747971	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caagacgtcaattccaaaatCtctgcatgaataaactttga	5	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:51747971C>A	uc003pah.1	-	46	7546	c.7270G>T	c.(7270-7272)GAT>TAT	p.D2424Y	PKHD1_uc010jzn.1_Missense_Mutation_p.D407Y|PKHD1_uc003pai.2_Missense_Mutation_p.D2424Y	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2424	Extracellular (Potential).|PbH1 5.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					ATTCCAAAATCTCTGCATGAA	0.368													A	51747971	C	A	51747971	3	1	104	1	0	0	0	0	1	0	0	0	11971	913	32	5	5081	5	PKHD1	6	51747971	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	134936	51747971	119367096	2711	69325											
PKHD1	5314	broad.mit.edu	37	chr6	51892664	51892664	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggctcgatgctgaaaacTtctgtgaggtactggatgtg	13	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:51892664T>G	uc003pah.1	-	31	3867	c.3591A>C	c.(3589-3591)GAA>GAC	p.E1197D	PKHD1_uc003pai.2_Missense_Mutation_p.E1197D	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1197	Extracellular (Potential).|IPT/TIG 7.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TGCTGAAAACTTCTGTGAGGT	0.438													G	51892664	T	G	51892664	3	3	104	1	0	0	0	0	1	0	0	0	11971	1606	56	5	8820	5	PKHD1	6	51892664	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	144693	51892664	119222403	2712	69326											
PAQR8	85315	broad.mit.edu	37	chr6	52268312	52268312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctttgccgaggctgagGccttgccatgggcgtctacc	15	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:52268312G>A	uc003pao.3	+	2	475	c.301G>A	c.(301-303)GCC>ACC	p.A101T		NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member	101	Extracellular (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding				0	Lung NSC(77;0.0875)					CGAGGCTGAGGCCTTGCCATG	0.592													A	52268312	G	A	52268312	3	1	104	1	0	0	0	0	1	0	0	0	11441	1203	42	2	303	2	PAQR8	6	52268312	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	375648	52268312	118846755	2713	69327											
GSTA5	221357	broad.mit.edu	37	chr6	52702399	52702399	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctgcagattctagaaatttCtcttccaactggaagcagaa	7	9	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:52702399C>A	uc003pba.1	-	3	166	c.96G>T	c.(94-96)GAG>GAT	p.E32D		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	32	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.0912)				Glutathione(DB00143)	CTAGAAATTTCTCTTCCAACT	0.368													A	52702399	C	A	52702399	3	1	104	1	0	0	0	0	1	0	0	0	6834	912	32	5	592	5	GSTA5	6	52702399	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	434087	52702399	118412668	2714	69328											
GSTA4	2941	broad.mit.edu	37	chr6	52859107	52859107	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaccaacagtcccaatttCgcgtcttcaacccagtgctc	6	16	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:52859107C>T	uc003pbc.2	-	1	1	c.-63_splice	c.e1-1		GSTA4_uc003pbd.2_Splice_Site|GSTA4_uc003pbe.2_Splice_Site|GSTA4_uc003pbf.2_Intron|GSTA4_uc003pbg.2_5'Flank	NM_001512	NP_001503	O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4						glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity				0	Lung NSC(77;0.103)				Glutathione(DB00143)	GTCCCAATTTCGCGTCTTCAA	0.473													T	52859107	C	T	52859107	5	4	104	1	0	0	0	0	0	0	1	0	6833	899	31	1		1	GSTA4	6	52859107	Splice_Site	SNP	C	TCGA-BR-8680-01A-11D-2394-08	156708	52859107	118255960	2715	69329											
ICK	22858	broad.mit.edu	37	chr6	52897353	52897353	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctctttaatgagctggtaaaGattttccttcatgtactcga	7	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:52897353G>T	uc003pbh.2	-	5	746	c.256C>A	c.(256-258)CTT>ATT	p.L86I	ICK_uc003pbi.2_Missense_Mutation_p.L86I|ICK_uc003pbj.2_Missense_Mutation_p.L86I	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	intestinal cell kinase	86	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5	Lung NSC(77;0.103)					AGCTGGTAAAGATTTTCCTTC	0.284													T	52897353	G	T	52897353	3	4	104	1	0	0	0	0	1	0	0	0	7484	942	33	5	1686	5	ICK	6	52897353	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	38246	52897353	118217714	2716	69330											
FBXO9	26268	broad.mit.edu	37	chr6	52960345	52960345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaatacagatattttcgtcGtgtccctgtacaagaagcag	8	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:52960345G>A	uc003pbo.2	+	12	1169	c.1118G>A	c.(1117-1119)CGT>CAT	p.R373H	FBXO9_uc003pbk.2_Missense_Mutation_p.R329H|FBXO9_uc003pbl.2_Missense_Mutation_p.R363H|FBXO9_uc003pbm.2_Missense_Mutation_p.R253H|FBXO9_uc003pbn.2_Missense_Mutation_p.R253H	NM_012347	NP_036479	Q9UK97	FBX9_HUMAN	F-box only protein 9 isoform 1	373						ubiquitin ligase complex	ubiquitin-protein ligase activity			pancreas(1)	1	Lung NSC(77;0.103)					TATTTTCGTCGTGTCCCTGTA	0.378													A	52960345	G	A	52960345	3	1	104	1	0	0	0	0	1	0	0	0	5762	1145	40	1	1167	1	FBXO9	6	52960345	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	62992	52960345	118154722	2717	69331											
LRRC1	55227	broad.mit.edu	37	chr6	53767437	53767437	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcttttacaggaaaactaaaGaaactgtcaatcttgaaggt	8	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:53767437G>T	uc003pcd.1	+	9	1075	c.798G>T	c.(796-798)AAG>AAT	p.K266N		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	266	LRR 12.					cytoplasm|membrane				ovary(1)	1	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GAAAACTAAAGAAACTGTCAA	0.333													T	53767437	G	T	53767437	3	4	104	1	0	0	0	0	1	0	0	0	8966	933	33	5	832	5	LRRC1	6	53767437	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	807092	53767437	117347630	2718	69332											
LRRC1	55227	broad.mit.edu	37	chr6	53785469	53785469	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagaacttggtaaatgatgtCtctgatgaagcctggaacga	12	6	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:53785469C>A	uc003pcd.1	+	13	1603	c.1326C>A	c.(1324-1326)GTC>GTA	p.V442V		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	442						cytoplasm|membrane				ovary(1)	1	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TAAATGATGTCTCTGATGAAG	0.463													A	53785469	C	A	53785469	2	1	104	1	0	0	0	0	0	0	0	1	8966	900	32	5		5	LRRC1	6	53785469	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	18032	53785469	117329598	2719	69333											
C6orf142	90523	broad.mit.edu	37	chr6	53989606	53989606	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acacaggggactgatctcaaGacctcatcacatcctgaaat	7	12	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:53989606G>T	uc003pcg.3	+	3	668	c.555G>T	c.(553-555)AAG>AAT	p.K185N	C6orf142_uc003pcf.2_Missense_Mutation_p.K185N|C6orf142_uc003pch.3_Missense_Mutation_p.K123N|C6orf142_uc011dwz.1_Missense_Mutation_p.K144N|C6orf142_uc011dxa.1_Missense_Mutation_p.K196N	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	hypothetical protein LOC90523	185						nuclear envelope|PML body	protein binding				0	Lung NSC(77;0.0317)					CTGATCTCAAGACCTCATCAC	0.522													T	53989606	G	T	53989606	3	4	104	1	0	0	0	0	1	0	0	0	2333	933	33	5	565	5	C6orf142	6	53989606	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	204137	53989606	117125461	2720	69334											
TINAG	27283	broad.mit.edu	37	chr6	54214548	54214548	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catgctacccacttttcaaaGaccaaaatgctaccaacaat	3	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:54214548G>T	uc003pcj.2	+	7	1080	c.934G>T	c.(934-936)GAC>TAC	p.D312Y	TINAG_uc010jzt.2_RNA	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	312					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			ACTTTTCAAAGACCAAAATGC	0.428													T	54214548	G	T	54214548	3	4	104	1	0	0	0	0	1	0	0	0	15918	942	33	5	960	5	TINAG	6	54214548	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	224942	54214548	116900519	2721	69335											
HCRTR2	3062	broad.mit.edu	37	chr6	55145214	55145214	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtatatgccaatagtgctgcGaatccaattatttataattt	6	6	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:55145214G>A	uc003pcl.2	+	6	1392	c.1077G>A	c.(1075-1077)GCG>GCA	p.A359A	HCRTR2_uc010jzv.2_RNA	NM_001526	NP_001517	O43614	OX2R_HUMAN	orexin receptor 2	359	Helical; Name=7; (Potential).				feeding behavior	integral to plasma membrane	neuropeptide receptor activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATAGTGCTGCGAATCCAATTA	0.343													A	55145214	G	A	55145214	2	1	104	1	0	0	0	0	0	0	0	1	7002	1045	37	1		1	HCRTR2	6	55145214	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	930666	55145214	115969853	2722	69336											
BMP5	653	broad.mit.edu	37	chr6	55659124	55659124	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcccaaattattctggggaTtaatcacccaatgattgctg	8	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:55659124T>G	uc003pcq.2	-	3	1497	c.785A>C	c.(784-786)AAT>ACT	p.N262T	BMP5_uc011dxf.1_Missense_Mutation_p.N262T	NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	262					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATTCTGGGGATTAATCACCCA	0.403													G	55659124	T	G	55659124	3	3	104	1	0	0	0	0	1	0	0	0	1463	1493	52	5	599	5	BMP5	6	55659124	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	513910	55659124	115455943	2723	69337											
DST	667	broad.mit.edu	37	chr6	56325025	56325025	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgataaatatcctggaagtcGaagcttgcttccttgtattg	9	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:56325025G>A	uc003pdf.2	-	96	16697	c.16669C>T	c.(16669-16671)CGA>TGA	p.R5557*	DST_uc003pcz.3_Nonsense_Mutation_p.R5379*|DST_uc011dxj.1_Nonsense_Mutation_p.R5408*|DST_uc011dxk.1_Nonsense_Mutation_p.R5419*|DST_uc003pcy.3_Nonsense_Mutation_p.R5053*|DST_uc003pcv.3_Nonsense_Mutation_p.R175*|DST_uc003pcw.3_Nonsense_Mutation_p.R136*|DST_uc003pcx.3_Nonsense_Mutation_p.R99*	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	7452					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)			CCTGGAAGTCGAAGCTTGCTT	0.458													A	56325025	G	A	56325025	4	1	104	1	0	0	0	0	0	1	0	0	4783	1066	37	1	366	1	DST	6	56325025	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	665901	56325025	114790042	2724	69338											
DST	667	broad.mit.edu	37	chr6	56354333	56354333	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attttgtctggatcatttgcGatttccagttcagaatccaa	7	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:56354333G>A	uc003pdf.2	-	80	14503	c.14475C>T	c.(14473-14475)ATC>ATT	p.I4825I	DST_uc003pcz.3_Silent_p.I4647I|DST_uc011dxj.1_Silent_p.I4676I|DST_uc011dxk.1_Silent_p.I4687I|DST_uc003pcy.3_Silent_p.I4321I|DST_uc003pda.3_Silent_p.I17I	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6733	Spectrin 18.				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)			GATCATTTGCGATTTCCAGTT	0.358													A	56354333	G	A	56354333	2	1	104	1	0	0	0	0	0	0	0	1	4783	1048	37	1		1	DST	6	56354333	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	29308	56354333	114760734	2725	69339											
ZNF451	26036	broad.mit.edu	37	chr6	56963933	56963933	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagagcctagcacctcttaTactgatgtaagtacattata	7	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:56963933T>C	uc003pdm.1	+	3	404	c.180T>C	c.(178-180)TAT>TAC	p.Y60Y	ZNF451_uc003pdl.2_Silent_p.Y60Y|ZNF451_uc003pdn.1_Silent_p.Y60Y|ZNF451_uc011dxn.1_Silent_p.Y60Y|ZNF451_uc003pdk.1_Silent_p.Y60Y|ZNF451_uc003pdo.2_RNA|uc003pdp.2_5'Flank	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GCACCTCTTATACTGATGTAA	0.358													C	56963933	T	C	56963933	2	2	104	1	0	0	0	0	0	0	0	1	17919	1413	49	3		3	ZNF451	6	56963933	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	609600	56963933	114151134	2726	69340											
ZNF451	26036	broad.mit.edu	37	chr6	56997971	56997971	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtttgacaatgggcaccttCtcttaggacatttgaaaagg	10	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:56997971C>T	uc003pdm.1	+	6	780	c.556C>T	c.(556-558)CTC>TTC	p.L186F	ZNF451_uc003pdl.2_Missense_Mutation_p.L186F|ZNF451_uc003pdn.1_Missense_Mutation_p.L186F|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.L186F	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	186	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGGGCACCTTCTCTTAGGACA	0.393													T	56997971	C	T	56997971	3	4	104	1	0	0	0	0	1	0	0	0	17919	913	32	4	578	4	ZNF451	6	56997971	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	34038	56997971	114117096	2727	69341											
RAB23	51715	broad.mit.edu	37	chr6	57061318	57061318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agttggtatatctcccacttCggctactactttctctctcc	5	14	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:57061318C>T	uc003pds.2	-	4	534	c.328G>A	c.(328-330)GAA>AAA	p.E110K	RAB23_uc003pdt.2_Missense_Mutation_p.E110K|RAB23_uc010kac.2_Missense_Mutation_p.E110K|RAB23_uc010kad.2_Intron	NM_183227	NP_899050	Q9ULC3	RAB23_HUMAN	Ras-related protein Rab-23	110					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			skin(1)	1	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCTCCCACTTCGGCTACTACT	0.428													T	57061318	C	T	57061318	3	4	104	1	0	0	0	0	1	0	0	0	12910	893	31	1	401	1	RAB23	6	57061318	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	63347	57061318	114053749	2728	69342											
PHF3	23469	broad.mit.edu	37	chr6	64395212	64395212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taatgtcaaaagtgtgaaacGaaatactgatgtaccagaat	8	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:64395212G>A	uc003pep.1	+	3	1615	c.1589G>A	c.(1588-1590)CGA>CAA	p.R530Q	PHF3_uc010kaf.1_Missense_Mutation_p.R530Q|PHF3_uc003pem.2_Missense_Mutation_p.R483Q|PHF3_uc010kag.1_Missense_Mutation_p.R442Q|PHF3_uc010kah.1_Missense_Mutation_p.R344Q|PHF3_uc003pen.2_Missense_Mutation_p.R442Q|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.R530Q	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	530					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGTGTGAAACGAAATACTGAT	0.343													A	64395212	G	A	64395212	3	1	104	1	0	0	0	0	1	0	0	0	11836	1058	37	1	1599	1	PHF3	6	64395212	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	7333894	64395212	106719855	2729	69343											
PHF3	23469	broad.mit.edu	37	chr6	64395712	64395712	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccagataacatagctaccAtaagaagagaaggctctgat	8	8	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:64395712A>C	uc003pep.1	+	3	2115	c.2089A>C	c.(2089-2091)ATA>CTA	p.I697L	PHF3_uc010kaf.1_Missense_Mutation_p.I697L|PHF3_uc003pem.2_Missense_Mutation_p.I650L|PHF3_uc010kag.1_Missense_Mutation_p.I609L|PHF3_uc010kah.1_Missense_Mutation_p.I511L|PHF3_uc003pen.2_Missense_Mutation_p.I609L|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.I697L	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	697					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CATAGCTACCATAAGAAGAGA	0.418													C	64395712	A	C	64395712	3	2	104	1	0	0	0	0	1	0	0	0	11836	217	8	5	2099	5	PHF3	6	64395712	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	500	64395712	106719355	2730	69344											
BAI3	577	broad.mit.edu	37	chr6	69666665	69666665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcaatgtgaaggaacgggcGaagaagtgagaagatgcaat	15	4	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:69666665G>A	uc003pev.3	+	8	1937	c.1489G>A	c.(1489-1491)GAA>AAA	p.E497K	BAI3_uc010kak.2_Missense_Mutation_p.E497K	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	497	TSP type-1 4.|Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				AGGAACGGGCGAAGAAGTGAG	0.453													A	69666665	G	A	69666665	3	1	104	1	0	0	0	0	1	0	0	0	1300	1059	37	1	1511	1	BAI3	6	69666665	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5270953	69666665	101448402	2731	69345											
LMBRD1	55788	broad.mit.edu	37	chr6	70407530	70407530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgattatcagaagttatatTagtctgaaagataaaaatac	6	3	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:70407530T>C	uc003pfa.2	-	14	1457	c.1342A>G	c.(1342-1344)AAT>GAT	p.N448D	LMBRD1_uc003pey.2_Missense_Mutation_p.N244D|LMBRD1_uc003pez.2_Missense_Mutation_p.N375D|LMBRD1_uc010kal.2_Missense_Mutation_p.N375D|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	448	Extracellular (Potential).			N->Q: Affects glycosylation status; when associated with Q-457.	interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1						GAAGTTATATTAGTCTGAAAG	0.294													C	70407530	T	C	70407530	3	2	104	1	0	0	0	0	1	0	0	0	8842	1754	61	3	292	3	LMBRD1	6	70407530	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	740865	70407530	100707537	2732	69346											
COL9A1	1297	broad.mit.edu	37	chr6	71009840	71009840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggatagctcttctagatgCtgctttatctacctggaact	8	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:71009840C>T	uc003pfg.3	-	4	364	c.205G>A	c.(205-207)GCA>ACA	p.A69T		NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	69	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						CTTCTAGATGCTGCTTTATCT	0.383													T	71009840	C	T	71009840	3	4	104	1	0	0	0	0	1	0	0	0	3707	797	28	2	2776	2	COL9A1	6	71009840	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	602310	71009840	100105227	2733	69347											
FAM135A	57579	broad.mit.edu	37	chr6	71235543	71235543	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttaaattcaagcattaaagAccctttacaatttgtttttt	3	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:71235543A>C	uc003pfj.2	+	13	2889	c.2756A>C	c.(2755-2757)GAC>GCC	p.D919A	FAM135A_uc003pfi.2_Missense_Mutation_p.D723A|FAM135A_uc003pfh.2_Missense_Mutation_p.D706A|FAM135A_uc003pfl.2_Missense_Mutation_p.D586A|FAM135A_uc003pfn.2_Intron|FAM135A_uc003pfo.1_Missense_Mutation_p.D290A|FAM135A_uc010kan.1_5'Flank	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	919										central_nervous_system(1)	1						AGCATTAAAGACCCTTTACAA	0.363													C	71235543	A	C	71235543	3	2	104	1	0	0	0	0	1	0	0	0	5448	275	10	5	2884	5	FAM135A	6	71235543	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	225703	71235543	99879524	2734	69348											
RIMS1	22999	broad.mit.edu	37	chr6	72975748	72975748	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtttgcattcaccagaacgaGaaaggtataaaataaagact	8	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:72975748G>A	uc003pga.2	+	22	3471	c.3394G>A	c.(3394-3396)GAA>AAA	p.E1132K	RIMS1_uc011dyb.1_Intron|RIMS1_uc003pgc.2_Missense_Mutation_p.E694K|RIMS1_uc010kaq.2_Missense_Mutation_p.E541K|RIMS1_uc011dyc.1_Missense_Mutation_p.E542K|RIMS1_uc010kar.2_Missense_Mutation_p.E461K|RIMS1_uc011dyd.1_Missense_Mutation_p.E527K|RIMS1_uc003pgf.2_Intron|RIMS1_uc003pgg.2_Missense_Mutation_p.E285K|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Missense_Mutation_p.E284K|RIMS1_uc003pgd.2_Missense_Mutation_p.E311K|RIMS1_uc003pge.2_Missense_Mutation_p.E285K|RIMS1_uc011dye.1_Intron|RIMS1_uc011dyf.1_Intron|RIMS1_uc010kas.1_Missense_Mutation_p.E527K	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1132					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACCAGAACGAGAAAGGTATAA	0.383													A	72975748	G	A	72975748	3	1	104	1	0	0	0	0	1	0	0	0	13367	943	33	4	3643	4	RIMS1	6	72975748	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1740205	72975748	98139319	2735	69349											
RIMS1	22999	broad.mit.edu	37	chr6	73108789	73108789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagtccacagggtaaagTtcttcaggtcagtaatagtt	10	6	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:73108789T>C	uc003pga.2	+	33	4930	c.4853T>C	c.(4852-4854)GTT>GCT	p.V1618A	RIMS1_uc011dyb.1_Missense_Mutation_p.V1015A|RIMS1_uc003pgc.2_Missense_Mutation_p.V1033A|RIMS1_uc010kaq.2_Missense_Mutation_p.V938A|RIMS1_uc011dyc.1_Missense_Mutation_p.V743A|RIMS1_uc010kar.2_Missense_Mutation_p.V686A|RIMS1_uc011dyd.1_Missense_Mutation_p.V752A|RIMS1_uc003pgf.2_Missense_Mutation_p.V618A|RIMS1_uc003pgg.2_Missense_Mutation_p.V514A|RIMS1_uc003pgi.2_Missense_Mutation_p.V434A|RIMS1_uc003pgh.2_Missense_Mutation_p.V485A|RIMS1_uc003pgd.2_Missense_Mutation_p.V684A|RIMS1_uc003pge.2_Missense_Mutation_p.V658A|RIMS1_uc011dye.1_Missense_Mutation_p.V424A|RIMS1_uc011dyf.1_Missense_Mutation_p.V242A|RIMS1_uc011dyg.1_Missense_Mutation_p.V145A	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1618	C2 2.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAGGGTAAAGTTCTTCAGGTC	0.383													C	73108789	T	C	73108789	3	2	104	1	0	0	0	0	1	0	0	0	13367	1725	60	3	5146	3	RIMS1	6	73108789	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	133041	73108789	98006278	2736	69350											
KCNQ5	56479	broad.mit.edu	37	chr6	73843259	73843259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagcaccgacatcacagccGagggcagtcccaccaaagtg	10	15	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:73843259G>A	uc003pgk.2	+	10	1710	c.1363G>A	c.(1363-1365)GAG>AAG	p.E455K	KCNQ5_uc011dyh.1_Missense_Mutation_p.E474K|KCNQ5_uc011dyi.1_Missense_Mutation_p.E465K|KCNQ5_uc010kat.2_Missense_Mutation_p.E446K|KCNQ5_uc011dyj.1_Intron|KCNQ5_uc011dyk.1_Missense_Mutation_p.E205K	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	455					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CATCACAGCCGAGGGCAGTCC	0.592													A	73843259	G	A	73843259	3	1	104	1	0	0	0	0	1	0	0	0	8086	1059	37	1	1462	1	KCNQ5	6	73843259	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	734470	73843259	97271808	2737	69351											
C6orf150	115004	broad.mit.edu	37	chr6	74138502	74138502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attgttcaaaatttccttttCgatgtgagagaaggatagcc	9	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:74138502C>T	uc003pgx.1	-	4	1286	c.1147G>A	c.(1147-1149)GAA>AAA	p.E383K		NM_138441	NP_612450	Q8N884	M21D1_HUMAN	hypothetical protein LOC115004	383											0						ATTTCCTTTTCGATGTGAGAG	0.323													T	74138502	C	T	74138502	3	4	104	1	0	0	0	0	1	0	0	0	2337	893	31	1	429	1	C6orf150	6	74138502	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	295243	74138502	96976565	2738	69352											
MTO1	25821	broad.mit.edu	37	chr6	74191931	74191931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagttccgtttgtcactgCgccctgataatgctgacagc	10	11	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:74191931C>T	uc003pgy.3	+	9	1628	c.1504C>T	c.(1504-1506)CGC>TGC	p.R502C	MTO1_uc010kav.2_Missense_Mutation_p.R517C|MTO1_uc003pgz.3_Missense_Mutation_p.R477C|MTO1_uc003pha.3_Missense_Mutation_p.R139C|MTO1_uc003phb.3_Missense_Mutation_p.R428C	NM_133645	NP_598400	Q9Y2Z2	MTO1_HUMAN	mitochondrial translation optimization 1 homolog	502					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			ovary(3)|skin(2)|pancreas(1)	6						TTTGTCACTGCGCCCTGATAA	0.418													T	74191931	C	T	74191931	3	4	104	1	0	0	0	0	1	0	0	0	9953	768	27	1	1662	1	MTO1	6	74191931	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	53429	74191931	96923136	2739	69353											
CD109	135228	broad.mit.edu	37	chr6	74530184	74530184	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcttttgtatttctcaaGgtaaatgaaacccagttttg	7	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:74530184G>A	uc003php.2	+	32	4485	c.4060_splice	c.e32-1	p.V1354_splice	CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Splice_Site_p.V1337_splice|CD109_uc010kba.2_Splice_Site_p.V1277_splice	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor							anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						TATTTCTCAAGGTAAATGAAA	0.328													A	74530184	G	A	74530184	5	1	104	1	0	0	0	0	0	0	1	0	2963	1014	35	4	4185	4	CD109	6	74530184	Splice_Site	SNP	G	TCGA-BR-8680-01A-11D-2394-08	338253	74530184	96584883	2740	69354											
COL12A1	1303	broad.mit.edu	37	chr6	75841699	75841699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaggagaatacacaacgCgatattgcagcacaggtcct	9	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:75841699C>T	uc003phs.2	-	35	6060	c.5894G>A	c.(5893-5895)CGC>CAC	p.R1965H	COL12A1_uc003pht.2_Missense_Mutation_p.R801H	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1965	Fibronectin type-III 15.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						ATACACAACGCGATATTGCAG	0.468													T	75841699	C	T	75841699	3	4	104	1	0	0	0	0	1	0	0	0	3669	768	27	1	3425	1	COL12A1	6	75841699	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1311515	75841699	95273368	2741	69355											
COL12A1	1303	broad.mit.edu	37	chr6	75848567	75848567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgagcttccaaaaggtgCccaagttattctgtagagag	10	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:75848567C>T	uc003phs.2	-	28	5234	c.5068G>A	c.(5068-5070)GCA>ACA	p.A1690T	COL12A1_uc003pht.2_Missense_Mutation_p.A526T	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1690	Fibronectin type-III 12.			A -> G (in Ref. 1; AAC51244).	cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CCAAAAGGTGCCCAAGTTATT	0.403													T	75848567	C	T	75848567	3	4	104	1	0	0	0	0	1	0	0	0	3669	739	26	2	4279	2	COL12A1	6	75848567	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	6868	75848567	95266500	2742	69356											
COL12A1	1303	broad.mit.edu	37	chr6	75890799	75890799	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggctccaccacagtgacctCatcatccccagccgcttcct	6	19	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:75890799C>A	uc003phs.2	-	11	2186	c.2020G>T	c.(2020-2022)GAG>TAG	p.E674*	COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Nonsense_Mutation_p.E332*	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	674	Fibronectin type-III 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						ACAGTGACCTCATCATCCCCA	0.478													A	75890799	C	A	75890799	4	1	104	1	0	0	0	0	0	1	0	0	3669	835	29	5	7395	5	COL12A1	6	75890799	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	42232	75890799	95224268	2743	69357											
COL12A1	1303	broad.mit.edu	37	chr6	75893216	75893216	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcccggctgtattgcacaaGactaatctggaccctatttg	8	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:75893216G>T	uc003phs.2	-	10	1607	c.1441C>A	c.(1441-1443)CTT>ATT	p.L481I	COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.L139I	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	481	VWFA 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TATTGCACAAGACTAATCTGG	0.363													T	75893216	G	T	75893216	3	4	104	1	0	0	0	0	1	0	0	0	3669	942	33	5	7978	5	COL12A1	6	75893216	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2417	75893216	95221851	2744	69358											
FILIP1	27145	broad.mit.edu	37	chr6	76018411	76018411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttagccactgccctcagCccttcccccctccgagagag	7	21	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:76018411C>T	uc003pia.2	-	6	4011	c.3638G>A	c.(3637-3639)GGC>GAC	p.G1213D	FILIP1_uc003phy.1_Intron|FILIP1_uc003phz.2_Missense_Mutation_p.G1114D|FILIP1_uc010kbe.2_Missense_Mutation_p.G1216D	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1213										skin(3)|ovary(1)	4						CTGCCCTCAGCCCTTCCCCCC	0.493													T	76018411	C	T	76018411	3	4	104	1	0	0	0	0	1	0	0	0	5894	739	26	2	7	2	FILIP1	6	76018411	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	125195	76018411	95096656	2745	69359											
MYO6	4646	broad.mit.edu	37	chr6	76551007	76551007	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgttcaaggcaaagaggaaaGaaattatcatatcttttata	7	4	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:76551007G>T	uc003pih.1	+	9	1007	c.728G>T	c.(727-729)AGA>ATA	p.R243I	MYO6_uc003pig.1_Missense_Mutation_p.R243I|MYO6_uc003pii.1_Missense_Mutation_p.R243I	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	243	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AAAGAGGAAAGAAATTATCAT	0.353													T	76551007	G	T	76551007	3	4	104	1	0	0	0	0	1	0	0	0	10081	942	33	5	758	5	MYO6	6	76551007	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	532596	76551007	94564060	2746	69360											
MYO6	4646	broad.mit.edu	37	chr6	76551055	76551055	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtgcttctgaagataTtagagaaaaacttcatttga	9	5	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:76551055T>C	uc003pih.1	+	9	1055	c.776T>C	c.(775-777)ATT>ACT	p.I259T	MYO6_uc003pig.1_Missense_Mutation_p.I259T|MYO6_uc003pii.1_Missense_Mutation_p.I259T	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	259	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TCTGAAGATATTAGAGAAAAA	0.284													C	76551055	T	C	76551055	3	2	104	1	0	0	0	0	1	0	0	0	10081	1493	52	3	806	3	MYO6	6	76551055	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	48	76551055	94564012	2747	69361											
MYO6	4646	broad.mit.edu	37	chr6	76604947	76604947	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taaaatatattcttttcacaGaaatgatggaacaagaccca	5	7	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:76604947G>T	uc003pih.1	+	29	3387	c.3108_splice	c.e29-1	p.R1036_splice	MYO6_uc003pig.1_Intron|MYO6_uc003pii.1_Intron|MYO6_uc003pij.1_5'UTR	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI						actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TCTTTTCACAGAAATGATGGA	0.303													T	76604947	G	T	76604947	5	4	104	1	0	0	0	0	0	0	1	0	10081	956	33	5	3217	5	MYO6	6	76604947	Splice_Site	SNP	G	TCGA-BR-8680-01A-11D-2394-08	53892	76604947	94510120	2748	69362											
IMPG1	3617	broad.mit.edu	37	chr6	76633355	76633355	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtatgattttaccttgTtattttgttgattttggaac	8	3	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:76633355T>C	uc003pik.1	-	16	2442	c.2312A>G	c.(2311-2313)AAC>AGC	p.N771S		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	771					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTTTACCTTGTTATTTTGTTG	0.279													C	76633355	T	C	76633355	3	2	104	1	0	0	0	0	1	0	0	0	7728	1725	60	3	89	3	IMPG1	6	76633355	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	28408	76633355	94481712	2749	69363											
HTR1B	3351	broad.mit.edu	37	chr6	78173062	78173062	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggataagttggcttgaggaAcccaggtctcggagcccgcg	15	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:78173062A>G	uc003pil.1	-	1	59	c.59T>C	c.(58-60)GTT>GCT	p.V20A		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	20	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GGCTTGAGGAACCCAGGTCTC	0.622													G	78173062	A	G	78173062	3	3	104	1	0	0	0	0	1	0	0	0	7437	43	2	3	1117	3	HTR1B	6	78173062	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1539707	78173062	92942005	2750	69364											
PHIP	55023	broad.mit.edu	37	chr6	79656535	79656535	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagatttataatctgataaAactgaactaatgtgttcttc	6	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:79656535A>C	uc003pir.2	-	37	4489	c.4263T>G	c.(4261-4263)GTT>GTG	p.V1421V	PHIP_uc003piq.2_Silent_p.V445V|PHIP_uc011dyp.1_Silent_p.V1420V|PHIP_uc003pio.3_Silent_p.V307V	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1421					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AATCTGATAAAACTGAACTAA	0.368													C	79656535	A	C	79656535	2	2	104	1	0	0	0	0	0	0	0	1	11842	1	1	5		5	PHIP	6	79656535	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1483473	79656535	91458532	2751	69365											
LCA5	167691	broad.mit.edu	37	chr6	80222985	80222985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaaactagtttctttgCcaaatcatctcgttcaggta	7	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:80222985C>T	uc003pix.2	-	3	1099	c.664G>A	c.(664-666)GCA>ACA	p.A222T	LCA5_uc003piy.2_Missense_Mutation_p.A222T|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Missense_Mutation_p.A222T	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	222	Potential.				protein transport	cilium axoneme|microtubule basal body	protein binding				0		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		AGTTTCTTTGCCAAATCATCT	0.358													T	80222985	C	T	80222985	3	4	104	1	0	0	0	0	1	0	0	0	8656	739	26	2	1453	2	LCA5	6	80222985	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	566450	80222985	90892082	2752	69366											
LCA5	167691	broad.mit.edu	37	chr6	80223141	80223141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttaagcgttctttgagtgCtgtaatctcattgttatgac	8	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:80223141C>A	uc003pix.2	-	3	943	c.508G>T	c.(508-510)GCA>TCA	p.A170S	LCA5_uc003piy.2_Missense_Mutation_p.A170S|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Missense_Mutation_p.A170S	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	170	Potential.				protein transport	cilium axoneme|microtubule basal body	protein binding				0		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TCTTTGAGTGCTGTAATCTCA	0.358													A	80223141	C	A	80223141	3	1	104	1	0	0	0	0	1	0	0	0	8656	797	28	5	1609	5	LCA5	6	80223141	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	156	80223141	90891926	2753	69367											
TTK	7272	broad.mit.edu	37	chr6	80717654	80717654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttaaataaattgattggtCgttacagtcaagcaattgaa	7	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:80717654C>T	uc003pjc.2	+	3	342	c.268C>T	c.(268-270)CGT>TGT	p.R90C	TTK_uc003pjb.3_Missense_Mutation_p.R90C	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	90					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		ATTGATTGGTCGTTACAGTCA	0.388													T	80717654	C	T	80717654	3	4	104	1	0	0	0	0	1	0	0	0	16717	884	31	1	274	1	TTK	6	80717654	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	494513	80717654	90397413	2754	69368											
FAM46A	55603	broad.mit.edu	37	chr6	82460081	82460081	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaactgcctccggagggaAtccacaaatttcagttccac	7	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:82460081A>G	uc003pjg.2	-	3	978	c.660T>C	c.(658-660)GAT>GAC	p.D220D	FAM46A_uc003pjf.2_Silent_p.D239D	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN	hypothetical protein LOC55603	220											0		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		TCCGGAGGGAATCCACAAATT	0.393													G	82460081	A	G	82460081	2	3	104	1	0	0	0	0	0	0	0	1	5565	98	4	3		3	FAM46A	6	82460081	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1742427	82460081	88654986	2755	69369											
IBTK	25998	broad.mit.edu	37	chr6	82914599	82914599	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagttaatgctacttcacaAatctctttcaaccgggttat	5	10	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:82914599A>C	uc003pjl.1	-	17	3113	c.2586T>G	c.(2584-2586)ATT>ATG	p.I862M	IBTK_uc011dyu.1_Translation_Start_Site|IBTK_uc011dyv.1_Missense_Mutation_p.I862M|IBTK_uc011dyw.1_Missense_Mutation_p.I661M|IBTK_uc010kbi.1_Missense_Mutation_p.I556M|IBTK_uc003pjm.2_Missense_Mutation_p.I862M	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	862					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CTACTTCACAAATCTCTTTCA	0.274													C	82914599	A	C	82914599	3	2	104	1	0	0	0	0	1	0	0	0	7476	10	1	5	1527	5	IBTK	6	82914599	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	454518	82914599	88200468	2756	69370											
DOPEY1	23033	broad.mit.edu	37	chr6	83819957	83819957	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgtttacctggaatcacgtAtgttcttgcccatttaaaca	7	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:83819957A>G	uc003pjs.1	+	6	865	c.605A>G	c.(604-606)TAT>TGT	p.Y202C	DOPEY1_uc011dyy.1_Missense_Mutation_p.Y202C|DOPEY1_uc010kbl.1_Missense_Mutation_p.Y202C	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	202					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGAATCACGTATGTTCTTGCC	0.433													G	83819957	A	G	83819957	3	3	104	1	0	0	0	0	1	0	0	0	4707	449	16	3	619	3	DOPEY1	6	83819957	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	905358	83819957	87295110	2757	69371											
PGM3	5238	broad.mit.edu	37	chr6	83884180	83884180	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctgctgattgttttatcttCatttcaacagctgtactaaa	5	8	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:83884180C>A	uc003pjv.2	-	10	1195	c.1155G>T	c.(1153-1155)ATG>ATT	p.M385I	PGM3_uc003pjw.2_Missense_Mutation_p.M304I|PGM3_uc011dyz.1_Missense_Mutation_p.M413I	NM_015599	NP_056414	O95394	AGM1_HUMAN	phosphoglucomutase 3	385					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GTTTTATCTTCATTTCAACAG	0.338													A	83884180	C	A	83884180	3	1	104	1	0	0	0	0	1	0	0	0	11800	826	29	5	489	5	PGM3	6	83884180	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	64223	83884180	87230887	2758	69372											
PRSS35	167681	broad.mit.edu	37	chr6	84233365	84233365	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtggcatcgaatgccagaaaGaactcccaactcccagcctt	8	14	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:84233365G>T	uc003pjz.2	+	2	368	c.205G>T	c.(205-207)GAA>TAA	p.E69*	PRSS35_uc010kbm.2_Nonsense_Mutation_p.E69*	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35 precursor	69					proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		ATGCCAGAAAGAACTCCCAAC	0.468													T	84233365	G	T	84233365	4	4	104	1	0	0	0	0	0	1	0	0	12624	943	33	5	207	5	PRSS35	6	84233365	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	349185	84233365	86881702	2759	69373											
PRSS35	167681	broad.mit.edu	37	chr6	84233890	84233890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccggggtcagaggattgccGaagggaggccttcctttcag	16	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:84233890G>A	uc003pjz.2	+	2	893	c.730G>A	c.(730-732)GAA>AAA	p.E244K	PRSS35_uc010kbm.2_Missense_Mutation_p.E244K	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35 precursor	244	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GAGGATTGCCGAAGGGAGGCC	0.567													A	84233890	G	A	84233890	3	1	104	1	0	0	0	0	1	0	0	0	12624	1059	37	1	732	1	PRSS35	6	84233890	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	525	84233890	86881177	2760	69374											
CYB5R4	51167	broad.mit.edu	37	chr6	84618734	84618734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttttacataccaggttcatCgttgggtcaattatgaatcc	8	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:84618734C>T	uc003pkf.2	+	4	469	c.337C>T	c.(337-339)CGT>TGT	p.R113C		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	113	Cytochrome b5 heme-binding.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(2)	2		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		CCAGGTTCATCGTTGGGTCAA	0.418													T	84618734	C	T	84618734	3	4	104	1	0	0	0	0	1	0	0	0	4129	884	31	1	351	1	CYB5R4	6	84618734	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	384844	84618734	86496333	2761	69375											
SYNCRIP	10492	broad.mit.edu	37	chr6	86333812	86333812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accaatatgttttccagaacGaatttcatgattattatact	4	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:86333812G>A	uc003pla.2	-	7	1226	c.685C>T	c.(685-687)CGT>TGT	p.R229C	SYNCRIP_uc003pku.2_Missense_Mutation_p.R229C|SYNCRIP_uc003pkw.2_Missense_Mutation_p.R229C|SYNCRIP_uc003pky.2_Missense_Mutation_p.R131C|SYNCRIP_uc003pkv.2_Missense_Mutation_p.R229C|SYNCRIP_uc003pkx.2_Missense_Mutation_p.R77C|SYNCRIP_uc003pkz.2_Missense_Mutation_p.R229C	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA	229	RRM 1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			ovary(2)	2		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TTTCCAGAACGAATTTCATGA	0.328													A	86333812	G	A	86333812	3	1	104	1	0	0	0	0	1	0	0	0	15441	1058	37	1	1252	1	SYNCRIP	6	86333812	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1715078	86333812	84781255	2762	69376											
SYNCRIP	10492	broad.mit.edu	37	chr6	86349994	86349994	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctactttggtcccttgtTtttctctctgcctgtaagtc	7	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:86349994T>C	uc003pla.2	-	4	861	c.320A>G	c.(319-321)AAA>AGA	p.K107R	SYNCRIP_uc003pku.2_Missense_Mutation_p.K107R|SYNCRIP_uc003pkw.2_Missense_Mutation_p.K107R|SYNCRIP_uc003pky.2_Missense_Mutation_p.K9R|SYNCRIP_uc003pkv.2_Missense_Mutation_p.K107R|SYNCRIP_uc003pkx.2_5'UTR|SYNCRIP_uc003pkz.2_Missense_Mutation_p.K107R	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA	107					CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			ovary(2)	2		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GGTCCCTTGTTTTTCTCTCTG	0.338													C	86349994	T	C	86349994	3	2	104	1	0	0	0	0	1	0	0	0	15441	1841	64	3	1629	3	SYNCRIP	6	86349994	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	16182	86349994	84765073	2763	69377											
HTR1E	3354	broad.mit.edu	37	chr6	87725558	87725558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccgccgcctaagccctcCccctagtcagtgcaccatcc	6	22	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:87725558C>T	uc003pli.2	+	2	1209	c.506C>T	c.(505-507)CCC>CTC	p.P169L		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	169	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)|skin(1)	3		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CTAAGCCCTCCCCCTAGTCAG	0.532													T	87725558	C	T	87725558	3	4	104	1	0	0	0	0	1	0	0	0	7439	623	22	4	508	4	HTR1E	6	87725558	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1375564	87725558	83389509	2764	69378											
ZNF292	23036	broad.mit.edu	37	chr6	87967536	87967536	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgggcacttatccaagCgatcttactgtaaaccactg	10	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:87967536C>T	uc003plm.3	+	8	4230	c.4189C>T	c.(4189-4191)CGA>TGA	p.R1397*		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1397	C2H2-type 8; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTTATCCAAGCGATCTTACTG	0.448													T	87967536	C	T	87967536	4	4	104	1	0	0	0	0	0	1	0	0	17823	760	27	1	4219	1	ZNF292	6	87967536	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	241978	87967536	83147531	2765	69379											
ZNF292	23036	broad.mit.edu	37	chr6	87969690	87969690	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagtccttacagaccttatCgatgtgttcaccagggatgc	9	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:87969690C>T	uc003plm.3	+	8	6384	c.6343C>T	c.(6343-6345)CGA>TGA	p.R2115*		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2115	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CAGACCTTATCGATGTGTTCA	0.418													T	87969690	C	T	87969690	4	4	104	1	0	0	0	0	0	1	0	0	17823	876	31	1	6373	1	ZNF292	6	87969690	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2154	87969690	83145377	2766	69380											
C6orf165	154313	broad.mit.edu	37	chr6	88120335	88120335	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctggatccaagtaatggCtttaacatggatagaaccct	9	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:88120335C>T	uc003plv.2	+	3	233	c.141C>T	c.(139-141)GGC>GGT	p.G47G	C6orf165_uc003plw.2_5'UTR|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Silent_p.G47G	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	47										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		CAAGTAATGGCTTTAACATGG	0.348													T	88120335	C	T	88120335	2	4	104	1	0	0	0	0	0	0	0	1	2341	784	28	2		2	C6orf165	6	88120335	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	150645	88120335	82994732	2767	69381											
C6orf165	154313	broad.mit.edu	37	chr6	88123615	88123615	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgatatgaattatacgaatCgaggtaatgtatactaccta	7	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:88123615C>T	uc003plv.2	+	4	372	c.280C>T	c.(280-282)CGA>TGA	p.R94*	C6orf165_uc003plw.2_5'UTR|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Nonsense_Mutation_p.R94*	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	94										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TTATACGAATCGAGGTAATGT	0.313													T	88123615	C	T	88123615	4	4	104	1	0	0	0	0	0	1	0	0	2341	876	31	1	290	1	C6orf165	6	88123615	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3280	88123615	82991452	2768	69382											
C6orf165	154313	broad.mit.edu	37	chr6	88126425	88126425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcaggcagagcttgggAcatttctaactctttctaag	8	10	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:88126425A>G	uc003plv.2	+	6	603	c.511A>G	c.(511-513)ACA>GCA	p.T171A	C6orf165_uc003plw.2_5'UTR|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.T171A	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	171										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAGCTTGGGACATTTCTAAC	0.358													G	88126425	A	G	88126425	3	3	104	1	0	0	0	0	1	0	0	0	2341	275	10	3	529	3	C6orf165	6	88126425	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2810	88126425	82988642	2769	69383											
C6orf165	154313	broad.mit.edu	37	chr6	88170746	88170746	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctccacttctttagatgagaGatgctgacaaacattatata	6	8	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:88170746G>A	uc003plv.2	+	12	1593	c.1501G>A	c.(1501-1503)GAT>AAT	p.D501N	SLC35A1_uc003plx.2_RNA|C6orf165_uc003plw.2_Missense_Mutation_p.D313N|C6orf165_uc010kbv.1_RNA	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	501										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TTAGATGAGAGATGCTGACAA	0.303													A	88170746	G	A	88170746	3	1	104	1	0	0	0	0	1	0	0	0	2341	942	33	4	1543	4	C6orf165	6	88170746	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	44321	88170746	82944321	2770	69384											
C6orf165	154313	broad.mit.edu	37	chr6	88170802	88170802	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgaaagtagcacacagacGaatacacacatactgccacc	7	12	0	2	rs149608815	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:88170802G>A	uc003plv.2	+	12	1649	c.1557G>A	c.(1555-1557)ACG>ACA	p.T519T	SLC35A1_uc003plx.2_RNA|C6orf165_uc003plw.2_Silent_p.T331T|C6orf165_uc010kbv.1_RNA	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	519										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GCACACAGACGAATACACACA	0.328													A	88170802	G	A	88170802	2	1	104	1	0	0	0	0	0	0	0	1	2341	1045	37	1		1	C6orf165	6	88170802	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	56	88170802	82944265	2771	69385											
RARS2	57038	broad.mit.edu	37	chr6	88231241	88231241	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atctatagcagctgcaagatCtctgaaacaaagtggccata	8	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:88231241C>A	uc003pme.2	-	12	1036	c.976G>T	c.(976-978)GAT>TAT	p.D326Y	RARS2_uc003pmb.2_Missense_Mutation_p.D151Y|RARS2_uc003pmc.2_Missense_Mutation_p.D151Y|RARS2_uc003pmd.2_5'UTR|RARS2_uc003pmf.2_RNA	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	326					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|central_nervous_system(1)	3		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GCTGCAAGATCTCTGAAACAA	0.323													A	88231241	C	A	88231241	3	1	104	1	0	0	0	0	1	0	0	0	13059	927	32	5	796	5	RARS2	6	88231241	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	60439	88231241	82883826	2772	69386											
AKIRIN2	55122	broad.mit.edu	37	chr6	88387650	88387650	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tagagtaaataagggctgttCtttttttaatggtgaggatg	12	2	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:88387650C>A	uc003pmk.2	-	3	998	c.415G>T	c.(415-417)GAA>TAA	p.E139*		NM_018064	NP_060534	Q53H80	AKIR2_HUMAN	akirin 2	139					innate immune response|transcription, DNA-dependent	transcriptional repressor complex					0						AAGGGCTGTTCTTTTTTTAAT	0.373													A	88387650	C	A	88387650	4	1	104	1	0	0	0	0	0	1	0	0	462	922	32	5	208	5	AKIRIN2	6	88387650	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	156409	88387650	82727417	2773	69387											
PNRC1	10957	broad.mit.edu	37	chr6	89790697	89790697	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcttttcctcccgaggttaCtttggggccctcccgatggt	12	13	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:89790697C>A	uc003pmv.2	+	1	269	c.84C>A	c.(82-84)TAC>TAA	p.Y28*	PNRC1_uc003pmu.2_Nonsense_Mutation_p.Y28*|PNRC1_uc003pmx.2_5'Flank	NM_006813	NP_006804	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding				0		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		CCCGAGGTTACTTTGGGGCCC	0.667										Multiple Myeloma(7;0.094)			A	89790697	C	A	89790697	4	1	104	1	0	0	0	0	0	1	0	0	12174	576	20	5	86	5	PNRC1	6	89790697	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1403047	89790697	81324370	2774	69388											
ANKRD6	22881	broad.mit.edu	37	chr6	90323556	90323556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcgctataatcacttgTccatcattaggctcctcctc	6	15	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:90323556T>C	uc003pni.3	+	7	903	c.562T>C	c.(562-564)TCC>CCC	p.S188P	ANKRD6_uc003pne.3_Missense_Mutation_p.S188P|ANKRD6_uc003pnf.3_Missense_Mutation_p.S188P|ANKRD6_uc011dzy.1_Missense_Mutation_p.S188P|ANKRD6_uc010kcd.2_Missense_Mutation_p.S155P|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_5'UTR	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	188	ANK 6.						protein binding			ovary(2)|pancreas(1)	3		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		TAATCACTTGTCCATCATTAG	0.468													C	90323556	T	C	90323556	3	2	104	1	0	0	0	0	1	0	0	0	685	1667	58	3	584	3	ANKRD6	6	90323556	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	532859	90323556	80791511	2775	69389											
MDN1	23195	broad.mit.edu	37	chr6	90361988	90361988	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgtcttagctcattgacatCttttaaaaagggctaaaaag	7	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:90361988C>A	uc003pnn.1	-	95	15954	c.15838G>T	c.(15838-15840)GAT>TAT	p.D5280Y		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	5280					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCATTGACATCTTTTAAAAAG	0.458													A	90361988	C	A	90361988	3	1	104	1	0	0	0	0	1	0	0	0	9415	913	32	5	984	5	MDN1	6	90361988	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	38432	90361988	80753079	2776	69390											
MDN1	23195	broad.mit.edu	37	chr6	90434994	90434994	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaagggattctgacacccaAaaatcttcgtcttttcatgc	6	10	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:90434994A>C	uc003pnn.1	-	38	5710	c.5594T>G	c.(5593-5595)TTT>TGT	p.F1865C		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1865					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTGACACCCAAAAATCTTCGT	0.448													C	90434994	A	C	90434994	3	2	104	1	0	0	0	0	1	0	0	0	9415	14	1	5	11456	5	MDN1	6	90434994	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	73006	90434994	80680073	2777	69391											
MDN1	23195	broad.mit.edu	37	chr6	90448144	90448144	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctttgagggcaccatatttCtgtaaaccggtttcttaagg	10	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:90448144C>A	uc003pnn.1	-	33	4740	c.4624G>T	c.(4624-4626)GAA>TAA	p.E1542*		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1542					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CACCATATTTCTGTAAACCGG	0.383													A	90448144	C	A	90448144	4	1	104	1	0	0	0	0	0	1	0	0	9415	922	32	5	12446	5	MDN1	6	90448144	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	13150	90448144	80666923	2778	69392											
MDN1	23195	broad.mit.edu	37	chr6	90450000	90450000	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gttcatggttgctagaatacGaaattttttcccagcagtca	8	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:90450000G>T	uc003pnn.1	-	32	4662	c.4546C>A	c.(4546-4548)CGT>AGT	p.R1516S		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1516					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCTAGAATACGAAATTTTTTC	0.408													T	90450000	G	T	90450000	3	4	104	1	0	0	0	0	1	0	0	0	9415	1058	37	5	12528	5	MDN1	6	90450000	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1856	90450000	80665067	2779	69393											
CASP8AP2	9994	broad.mit.edu	37	chr6	90578381	90578381	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcctttaaaatgcattgttgAggaaacctatatcgacttga	8	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:90578381A>T	uc003pnr.2	+	8	5568	c.5372A>T	c.(5371-5373)GAG>GTG	p.E1791V	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.E1791V|CASP8AP2_uc011dzz.1_Missense_Mutation_p.E1791V	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1791	NCOA2-binding.				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TGCATTGTTGAGGAAACCTAT	0.408													T	90578381	A	T	90578381	3	4	104	1	0	0	0	0	1	0	0	0	2678	304	11	5	5398	5	CASP8AP2	6	90578381	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	128381	90578381	80536686	2780	69394											
MAP3K7	6885	broad.mit.edu	37	chr6	91229036	91229036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagttatctgatccattggTatctggaattcaagcatgta	10	6	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:91229036T>C	uc003pnz.1	-	15	1627	c.1465A>G	c.(1465-1467)ACC>GCC	p.T489A	MAP3K7_uc003pny.1_Missense_Mutation_p.T26A|MAP3K7_uc003poa.1_Missense_Mutation_p.T489A|MAP3K7_uc003pob.1_Missense_Mutation_p.T462A|MAP3K7_uc003poc.1_Missense_Mutation_p.T462A	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	489					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GATCCATTGGTATCTGGAATT	0.328													C	91229036	T	C	91229036	3	2	104	1	0	0	0	0	1	0	0	0	9255	1638	57	3	367	3	MAP3K7	6	91229036	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	650655	91229036	79886031	2781	69395											
FHL5	9457	broad.mit.edu	37	chr6	97052727	97052727	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgctgccaaggatgagcgCctgctgtgcacggagtgcta	14	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:97052727C>T	uc003pos.1	+	4	666	c.261C>T	c.(259-261)CGC>CGT	p.R87R	FHL5_uc003pot.1_Silent_p.R87R	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	activator of cAMP-responsive element modulator	87	LIM zinc-binding 1.					nucleus	zinc ion binding			ovary(2)	2		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AGGATGAGCGCCTGCTGTGCA	0.522													T	97052727	C	T	97052727	2	4	104	1	0	0	0	0	0	0	0	1	5881	726	26	2		2	FHL5	6	97052727	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5823691	97052727	74062340	2782	69396											
GPR63	81491	broad.mit.edu	37	chr6	97246403	97246403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcactaggacgtatccgtCgctttgtgtgaccagggagc	13	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:97246403C>T	uc010kcl.2	-	3	1683	c.1205G>A	c.(1204-1206)CGA>CAA	p.R402Q	GPR63_uc003pou.2_Missense_Mutation_p.R402Q	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	402	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		ACGTATCCGTCGCTTTGTGTG	0.473													T	97246403	C	T	97246403	3	4	104	1	0	0	0	0	1	0	0	0	6704	884	31	1	58	1	GPR63	6	97246403	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	193676	97246403	73868664	2783	69397											
KLHL32	114792	broad.mit.edu	37	chr6	97424044	97424044	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcctagcagcatgcagtgaCtatttccgggtaagtcagca	11	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:97424044C>A	uc010kcm.1	+	3	667	c.195C>A	c.(193-195)GAC>GAA	p.D65E	KLHL32_uc003poy.2_Missense_Mutation_p.D65E|KLHL32_uc011ead.1_Missense_Mutation_p.D65E|KLHL32_uc003poz.2_5'UTR|KLHL32_uc011eae.1_Missense_Mutation_p.D65E	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	kelch-like 32	65	BTB.									ovary(3)|skin(1)	4		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CATGCAGTGACTATTTCCGGG	0.448													A	97424044	C	A	97424044	3	1	104	1	0	0	0	0	1	0	0	0	8386	564	20	5	201	5	KLHL32	6	97424044	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	177641	97424044	73691023	2784	69398											
KLHL32	114792	broad.mit.edu	37	chr6	97562324	97562324	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatggacttttgttcagtcCtttgacagatccctttcatg	7	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:97562324C>A	uc010kcm.1	+	7	1765	c.1293C>A	c.(1291-1293)TCC>TCA	p.S431S	KLHL32_uc003poy.2_Silent_p.S431S|KLHL32_uc011ead.1_Silent_p.S395S|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Silent_p.S362S|KLHL32_uc003ppa.2_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	kelch-like 32	431	Kelch 3.									ovary(3)|skin(1)	4		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TTGTTCAGTCCTTTGACAGAT	0.438													A	97562324	C	A	97562324	2	1	104	1	0	0	0	0	0	0	0	1	8386	668	24	5		5	KLHL32	6	97562324	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	138280	97562324	73552743	2785	69399											
FBXL4	26235	broad.mit.edu	37	chr6	99374803	99374803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtagctgtcctggctcggCgccgaaggcatatataataa	11	9	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:99374803C>T	uc003ppf.1	-	3	420	c.62G>A	c.(61-63)CGC>CAC	p.R21H	FBXL4_uc003ppg.1_Missense_Mutation_p.R21H|FBXL4_uc003pph.1_5'UTR	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	21					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				skin(2)	2		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		CCTGGCTCGGCGCCGAAGGCA	0.448													T	99374803	C	T	99374803	3	4	104	1	0	0	0	0	1	0	0	0	5721	768	27	1	1831	1	FBXL4	6	99374803	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1812479	99374803	71740264	2786	69400											
C6orf168	84553	broad.mit.edu	37	chr6	99771429	99771429	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgcgtttcacaattcctttCgttatgtggcacacaaccca	6	13	1	0	rs144270064	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:99771429C>T	uc003ppj.3	-	4	997	c.714G>A	c.(712-714)ACG>ACA	p.T238T	C6orf168_uc003ppi.3_Intron	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	hypothetical protein LOC84553	238										ovary(2)|central_nervous_system(1)	3		all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.073)		CAATTCCTTTCGTTATGTGGC	0.537													T	99771429	C	T	99771429	2	4	104	1	0	0	0	0	0	0	0	1	2343	871	31	1		1	C6orf168	6	99771429	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	396626	99771429	71343638	2787	69401											
COQ3	51805	broad.mit.edu	37	chr6	99825356	99825356	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggaattgttttcagaagaTtgtcccttttttaaaaaatt	6	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:99825356T>C	uc003ppk.2	-	4	419	c.392A>G	c.(391-393)AAT>AGT	p.N131S		NM_017421	NP_059117	Q9NZJ6	COQ3_HUMAN	hexaprenyldihydroxybenzoate methyltransferase	131					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			upper_aerodigestive_tract(1)	1		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TTTCAGAAGATTGTCCCTTTT	0.348													C	99825356	T	C	99825356	3	2	104	1	0	0	0	0	1	0	0	0	3746	1493	52	3	733	3	COQ3	6	99825356	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	53927	99825356	71289711	2788	69402											
SFRS18	25957	broad.mit.edu	37	chr6	99852513	99852513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgtgcatctttggctacGtaataaatttcttcatctgt	8	8	4	0	rs143393166	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:99852513G>A	uc003ppo.3	-	9	1296	c.1068C>T	c.(1066-1068)TAC>TAT	p.Y356Y	SFRS18_uc003ppp.3_Silent_p.Y356Y|SFRS18_uc011eag.1_Silent_p.Y356Y	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	356						nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		CTTTGGCTACGTAATAAATTT	0.353													A	99852513	G	A	99852513	2	1	104	1	0	0	0	0	0	0	0	1	14174	1140	40	1		1	SFRS18	6	99852513	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	27157	99852513	71262554	2789	69403											
SFRS18	25957	broad.mit.edu	37	chr6	99862453	99862453	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttgtttccttacttggaTcctgttggtgctggaatgac	10	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:99862453T>C	uc003ppo.3	-	3	311	c.83A>G	c.(82-84)GAT>GGT	p.D28G	SFRS18_uc003ppp.3_Missense_Mutation_p.D28G|SFRS18_uc011eag.1_Missense_Mutation_p.D28G|SFRS18_uc003ppr.2_Missense_Mutation_p.D28G|SFRS18_uc003ppt.2_Missense_Mutation_p.D28G|SFRS18_uc003pps.2_Missense_Mutation_p.D28G	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	28	Gln-rich.					nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		CTTACTTGGATCCTGTTGGTG	0.443													C	99862453	T	C	99862453	3	2	104	1	0	0	0	0	1	0	0	0	14174	1435	50	3	2374	3	SFRS18	6	99862453	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	9940	99862453	71252614	2790	69404											
USP45	85015	broad.mit.edu	37	chr6	99885256	99885256	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catagagaccgtagagaactTtatctcccacacttgcattc	6	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:99885256T>G	uc003ppx.2	-	17	2713	c.2180A>C	c.(2179-2181)AAA>ACA	p.K727T	USP45_uc003ppv.2_RNA|USP45_uc003ppw.2_Missense_Mutation_p.K407T	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	727					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|breast(1)	2		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		GTAGAGAACTTTATCTCCCAC	0.358													G	99885256	T	G	99885256	3	3	104	1	0	0	0	0	1	0	0	0	17073	1841	64	5	272	5	USP45	6	99885256	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	22803	99885256	71229811	2791	69405											
USP45	85015	broad.mit.edu	37	chr6	99891518	99891518	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttcctggcattagtatAaactccttctactttctttt	4	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:99891518A>C	uc003ppx.2	-	15	2529	c.1996T>G	c.(1996-1998)TAT>GAT	p.Y666D	USP45_uc003ppv.2_RNA|USP45_uc003ppw.2_Missense_Mutation_p.Y346D	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	666					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|breast(1)	2		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		GCATTAGTATAAACTCCTTCT	0.289													C	99891518	A	C	99891518	3	2	104	1	0	0	0	0	1	0	0	0	17073	362	13	5	464	5	USP45	6	99891518	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	6262	99891518	71223549	2792	69406											
USP45	85015	broad.mit.edu	37	chr6	99956550	99956550	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctagctgcccatcatagaatCttctttcttttaaacattct	3	11	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:99956550C>T	uc003ppx.2	-	3	742	c.209G>A	c.(208-210)AGA>AAA	p.R70K	USP45_uc003ppw.2_5'UTR|USP45_uc003ppy.2_RNA|USP45_uc010kcq.1_Missense_Mutation_p.R70K|USP45_uc003ppz.2_Missense_Mutation_p.R70K|USP45_uc003pqa.2_Missense_Mutation_p.R70K	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	70	UBP-type.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|breast(1)	2		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		ATCATAGAATCTTCTTTCTTT	0.378													T	99956550	C	T	99956550	3	4	104	1	0	0	0	0	1	0	0	0	17073	913	32	4	2299	4	USP45	6	99956550	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	65032	99956550	71158517	2793	69407											
MCHR2	84539	broad.mit.edu	37	chr6	100395798	100395798	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactatgtggaccaaatcagCcacagccaggttgcagatat	9	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:100395798C>A	uc003pqh.1	-	3	547	c.232G>T	c.(232-234)GCT>TCT	p.A78S	MCHR2_uc003pqi.1_Missense_Mutation_p.A78S	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	78	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		ACCAAATCAGCCACAGCCAGG	0.468													A	100395798	C	A	100395798	3	1	104	1	0	0	0	0	1	0	0	0	9383	739	26	5	806	5	MCHR2	6	100395798	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	439248	100395798	70719269	2794	69408											
ASCC3	10973	broad.mit.edu	37	chr6	101091945	101091945	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatactctgaatgataaaTatgatcatttgtaggatctt	6	4	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:101091945T>C	uc003pqk.2	-	23	4023	c.3694A>G	c.(3694-3696)ATT>GTT	p.I1232V		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1232	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GAATGATAAATATGATCATTT	0.303													C	101091945	T	C	101091945	3	2	104	1	0	0	0	0	1	0	0	0	1033	1406	49	3	2994	3	ASCC3	6	101091945	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	696147	101091945	70023122	2795	69409											
ASCC3	10973	broad.mit.edu	37	chr6	101166000	101166000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgtccaagaggtactggtCgaaaacggccatcaaagaag	11	9	2	2	rs142555952		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:101166000C>T	uc003pqk.2	-	12	2359	c.2030G>A	c.(2029-2031)CGA>CAA	p.R677Q	ASCC3_uc011eai.1_Missense_Mutation_p.R579Q|ASCC3_uc003pql.2_Missense_Mutation_p.R677Q	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	677					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AGGTACTGGTCGAAAACGGCC	0.333													T	101166000	C	T	101166000	3	4	104	1	0	0	0	0	1	0	0	0	1033	884	31	1	4702	1	ASCC3	6	101166000	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	74055	101166000	69949067	2796	69410											
ASCC3	10973	broad.mit.edu	37	chr6	101246682	101246682	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttcttcataaagcttgttAttctctctttggattccttc	4	10	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:101246682A>G	uc003pqk.2	-	8	1631	c.1302T>C	c.(1300-1302)AAT>AAC	p.N434N	ASCC3_uc011eai.1_Silent_p.N336N|ASCC3_uc003pql.2_Silent_p.N434N	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AAAGCTTGTTATTCTCTCTTT	0.333													G	101246682	A	G	101246682	2	3	104	1	0	0	0	0	0	0	0	1	1033	446	16	3		3	ASCC3	6	101246682	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	80682	101246682	69868385	2797	69411											
ASCC3	10973	broad.mit.edu	37	chr6	101248368	101248368	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcattttctcctaaaattTttttacaattgtctaagaag	4	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:101248368T>G	uc003pqk.2	-	6	1264	c.935A>C	c.(934-936)AAA>ACA	p.K312T	ASCC3_uc011eai.1_Missense_Mutation_p.K214T|ASCC3_uc003pql.2_Missense_Mutation_p.K312T	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TCCTAAAATTTTTTTACAATT	0.303													G	101248368	T	G	101248368	3	3	104	1	0	0	0	0	1	0	0	0	1033	1841	64	5	5821	5	ASCC3	6	101248368	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1686	101248368	69866699	2798	69412											
GRIK2	2898	broad.mit.edu	37	chr6	102074270	102074270	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcagcctgtgatcagctgtCtcttggggtggctgccatct	12	11	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:102074270C>A	uc003pqp.3	+	3	548	c.299C>A	c.(298-300)TCT>TAT	p.S100Y	GRIK2_uc003pqn.2_Missense_Mutation_p.S100Y|GRIK2_uc003pqo.3_Missense_Mutation_p.S100Y|GRIK2_uc010kcw.2_Missense_Mutation_p.S100Y	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	100	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GATCAGCTGTCTCTTGGGGTG	0.502													A	102074270	C	A	102074270	3	1	104	1	0	0	0	0	1	0	0	0	6774	913	32	5	309	5	GRIK2	6	102074270	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	825902	102074270	69040797	2799	69413											
GRIK2	2898	broad.mit.edu	37	chr6	102134199	102134199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaggcacctccgaaacccGattcaggtttgctggatgga	12	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:102134199G>A	uc003pqp.3	+	6	1171	c.922G>A	c.(922-924)GAT>AAT	p.D308N	GRIK2_uc003pqn.2_Missense_Mutation_p.D308N|GRIK2_uc003pqo.3_Missense_Mutation_p.D308N|GRIK2_uc010kcw.2_Missense_Mutation_p.D308N	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	308	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TCCGAAACCCGATTCAGGTTT	0.393													A	102134199	G	A	102134199	3	1	104	1	0	0	0	0	1	0	0	0	6774	1058	37	1	944	1	GRIK2	6	102134199	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	59929	102134199	68980868	2800	69414											
HACE1	57531	broad.mit.edu	37	chr6	105224916	105224916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctccatggaaccgtacaGcaatcccttgctttagcttt	6	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:105224916G>A	uc003pqu.1	-	16	2025	c.1748C>T	c.(1747-1749)GCT>GTT	p.A583V	HACE1_uc010kcy.1_Missense_Mutation_p.A65V|HACE1_uc010kcz.1_Intron|HACE1_uc010kcx.1_5'UTR|HACE1_uc003pqt.1_Missense_Mutation_p.A236V	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing, E3	583	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			ovary(5)|lung(2)	7		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		GAACCGTACAGCAATCCCTTG	0.333													A	105224916	G	A	105224916	3	1	104	1	0	0	0	0	1	0	0	0	6940	971	34	2	1017	2	HACE1	6	105224916	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3090717	105224916	65890151	2801	69415											
HACE1	57531	broad.mit.edu	37	chr6	105239404	105239404	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acacctggcttcttggagttTtattcccattgtagcccata	7	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:105239404T>G	uc003pqu.1	-	11	1326	c.1049A>C	c.(1048-1050)AAA>ACA	p.K350T	HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.K350T	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing, E3	350					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			ovary(5)|lung(2)	7		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TCTTGGAGTTTTATTCCCATT	0.383													G	105239404	T	G	105239404	3	3	104	1	0	0	0	0	1	0	0	0	6940	1841	64	5	1736	5	HACE1	6	105239404	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	14488	105239404	65875663	2802	69416											
BVES	11149	broad.mit.edu	37	chr6	105577274	105577274	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cggtctcttcttgtataaaaGatacgacagatgcaaaatgt	8	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:105577274G>T	uc003pqw.2	-	3	488	c.331C>A	c.(331-333)CTT>ATT	p.L111I	BVES_uc003pqx.2_Missense_Mutation_p.L111I|BVES_uc003pqy.2_Missense_Mutation_p.L111I	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance isoform 5	111	Helical; (Potential).				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity				0		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TTGTATAAAAGATACGACAGA	0.348													T	105577274	G	T	105577274	3	4	104	1	0	0	0	0	1	0	0	0	1575	942	33	5	775	5	BVES	6	105577274	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	337870	105577274	65537793	2803	69417											
POPDC3	64208	broad.mit.edu	37	chr6	105606497	105606497	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcattcaaggcatagagttTatctgcaatgtcactgccaa	8	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:105606497T>G	uc003prb.2	-	4	1126	c.724A>C	c.(724-726)AAA>CAA	p.K242Q	uc003pqz.2_Intron|POPDC3_uc003pra.2_RNA	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	popeye protein 3	242						integral to membrane				skin(3)|ovary(2)	5		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				GCATAGAGTTTATCTGCAATG	0.393													G	105606497	T	G	105606497	3	3	104	1	0	0	0	0	1	0	0	0	12256	1763	61	5	155	5	POPDC3	6	105606497	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	29223	105606497	65508570	2804	69418											
PREP	5550	broad.mit.edu	37	chr6	105816843	105816843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaaatatcttctgactgatCggttcccaagacatggtagt	8	9	2	3	rs145682559		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:105816843C>T	uc003prc.2	-	6	855	c.652G>A	c.(652-654)GAT>AAT	p.D218N		NM_002726	NP_002717	P48147	PPCE_HUMAN	prolyl endopeptidase	218					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TCTGACTGATCGGTTCCCAAG	0.408													T	105816843	C	T	105816843	3	4	104	1	0	0	0	0	1	0	0	0	12474	884	31	1	1520	1	PREP	6	105816843	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	210346	105816843	65298224	2805	69419											
PDSS2	57107	broad.mit.edu	37	chr6	107780297	107780297	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgaaggctcatgaaggAcgtggggtaccccacgatct	14	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:107780297A>G	uc003prt.2	-	1	483	c.193T>C	c.(193-195)TCC>CCC	p.S65P	PDSS2_uc011eak.1_Intron|PDSS2_uc011eal.1_Missense_Mutation_p.S65P|PDSS2_uc003pru.2_Missense_Mutation_p.S65P|PDSS2_uc003prv.2_Missense_Mutation_p.S65P	NM_020381	NP_065114	Q86YH6	DLP1_HUMAN	prenyl diphosphate synthase, subunit 2	65					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			ovary(2)	2	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		CTCATGAAGGACGTGGGGTAC	0.622											OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	107780297	A	G	107780297	3	3	104	1	0	0	0	0	1	0	0	0	11694	275	10	3	1038	3	PDSS2	6	107780297	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1963454	107780297	63334770	2806	69420											
NR2E1	7101	broad.mit.edu	37	chr6	108499413	108499413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagtgggctaagagtgtgCcagccttctccacgctgtct	11	12	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:108499413C>T	uc003psg.2	+	5	1365	c.610C>T	c.(610-612)CCA>TCA	p.P204S		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	204	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TAAGAGTGTGCCAGCCTTCTC	0.512													T	108499413	C	T	108499413	3	4	104	1	0	0	0	0	1	0	0	0	10625	739	26	2	628	2	NR2E1	6	108499413	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	719116	108499413	62615654	2807	69421											
ARMC2	84071	broad.mit.edu	37	chr6	109197433	109197433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatttaacaaaatcaaatgCtatttgccacttaaagagtc	4	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:109197433C>T	uc003pss.3	+	5	725	c.551C>T	c.(550-552)GCT>GTT	p.A184V	ARMC2_uc011eao.1_Missense_Mutation_p.A19V	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	184							binding				0		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AAATCAAATGCTATTTGCCAC	0.368													T	109197433	C	T	109197433	3	4	104	1	0	0	0	0	1	0	0	0	951	797	28	2	565	2	ARMC2	6	109197433	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	698020	109197433	61917634	2808	69422											
ARMC2	84071	broad.mit.edu	37	chr6	109286202	109286202	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggttagtggactgtttaagaGatttgggtcctactgattgg	14	4	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:109286202G>T	uc003pss.3	+	17	2479	c.2305G>T	c.(2305-2307)GAT>TAT	p.D769Y	ARMC2_uc011eao.1_Missense_Mutation_p.D604Y	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	769	ARM 12.						binding				0		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CTGTTTAAGAGATTTGGGTCC	0.333													T	109286202	G	T	109286202	3	4	104	1	0	0	0	0	1	0	0	0	951	942	33	5	2367	5	ARMC2	6	109286202	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	88769	109286202	61828865	2809	69423											
ZBTB24	9841	broad.mit.edu	37	chr6	109787482	109787482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttatgtacagaatcggttaCgagaagctgaatttcctgct	10	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:109787482C>T	uc003ptl.1	-	7	1834	c.1666G>A	c.(1666-1668)GTA>ATA	p.V556I	MICAL1_uc011eaq.1_5'Flank|ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.V500I|ZBTB24_uc010kdt.1_RNA	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24 isoform	556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		GAATCGGTTACGAGAAGCTGA	0.468													T	109787482	C	T	109787482	3	4	104	1	0	0	0	0	1	0	0	0	17528	536	19	1	431	1	ZBTB24	6	109787482	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	501280	109787482	61327585	2810	69424											
AKD1	221264	broad.mit.edu	37	chr6	109814771	109814771	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attcggaacctttgggattaAatgctgtagaaaatttcaca	8	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:109814771A>C	uc003ptn.2	-	41	5614	c.5537T>G	c.(5536-5538)TTT>TGT	p.F1846C	AKD1_uc011eas.1_Missense_Mutation_p.F231C	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1846					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						TTTGGGATTAAATGCTGTAGA	0.363													C	109814771	A	C	109814771	3	2	104	1	0	0	0	0	1	0	0	0	460	14	1	5	202	5	AKD1	6	109814771	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	27289	109814771	61300296	2811	69425											
AKD1	221264	broad.mit.edu	37	chr6	109816641	109816641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttcccagtatttcagtggcGacctaagaacacaaagttca	8	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:109816641G>A	uc003ptn.2	-	39	5395	c.5318C>T	c.(5317-5319)TCG>TTG	p.S1773L	AKD1_uc011eas.1_Missense_Mutation_p.S158L	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1773					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						TTTCAGTGGCGACCTAAGAAC	0.408													A	109816641	G	A	109816641	3	1	104	1	0	0	0	0	1	0	0	0	460	1059	37	1	429	1	AKD1	6	109816641	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1870	109816641	61298426	2812	69426											
AKD1	221264	broad.mit.edu	37	chr6	109820263	109820263	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttacattcagtttttcctgaGaactcattttatagtagtgc	6	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:109820263G>T	uc003ptn.2	-	36	5107	c.5030C>A	c.(5029-5031)TCT>TAT	p.S1677Y	AKD1_uc011eas.1_Missense_Mutation_p.S62Y	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1677					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						TTTTTCCTGAGAACTCATTTT	0.398													T	109820263	G	T	109820263	3	4	104	1	0	0	0	0	1	0	0	0	460	942	33	5	729	5	AKD1	6	109820263	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3622	109820263	61294804	2813	69427											
FIG4	9896	broad.mit.edu	37	chr6	110048403	110048403	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcatgcaatctataaggtCgaagatacaaatatgatcta	8	6	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:110048403C>T	uc003ptt.2	+	4	596	c.381C>T	c.(379-381)GTC>GTT	p.V127V	FIG4_uc011eau.1_Intron	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	127					cell death	endosome membrane	protein binding			ovary(1)	1		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TCTATAAGGTCGAAGATACAA	0.353													T	110048403	C	T	110048403	2	4	104	1	0	0	0	0	0	0	0	1	5888	871	31	1		1	FIG4	6	110048403	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	228140	110048403	61066664	2814	69428											
WASF1	8936	broad.mit.edu	37	chr6	110424718	110424718	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactaaatggcaaggcagaAagtgagtaagatccatccat	10	7	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:110424718A>C	uc003ptv.1	-	9	1593	c.756T>G	c.(754-756)CTT>CTG	p.L252L	WASF1_uc003ptw.1_Silent_p.L252L|WASF1_uc003ptx.1_Silent_p.L252L|WASF1_uc003pty.1_Silent_p.L252L	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Wiskott-Aldrich syndrome protein family member	252					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding				0		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GCAAGGCAGAAAGTGAGTAAG	0.373													C	110424718	A	C	110424718	2	2	104	1	0	0	0	0	0	0	0	1	17249	1	1	5		5	WASF1	6	110424718	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	376315	110424718	60690349	2815	69429											
GTF3C6	112495	broad.mit.edu	37	chr6	111288852	111288852	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttggaattggaagaggaagaGattcaaatgaacgacagttc	12	4	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:111288852G>T	uc003pum.2	+	6	711	c.501G>T	c.(499-501)GAG>GAT	p.E167D		NM_138408	NP_612417	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide	167						transcription factor TFIIIC complex	DNA binding|protein binding				0		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		AAGAGGAAGAGATTCAAATGA	0.393													T	111288852	G	T	111288852	3	4	104	1	0	0	0	0	1	0	0	0	6877	933	33	5	523	5	GTF3C6	6	111288852	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	864134	111288852	59826215	2816	69430											
SLC16A10	117247	broad.mit.edu	37	chr6	111540115	111540115	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcctcatcatgggtctcttCgatggatgcttcatttccat	8	11	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:111540115C>T	uc003pus.2	+	5	1360	c.1185C>T	c.(1183-1185)TTC>TTT	p.F395F	SLC16A10_uc003put.2_Silent_p.F81F	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	solute carrier family 16, member 10	395	Cytoplasmic (Potential).				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity				0		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TGGGTCTCTTCGATGGATGCT	0.468													T	111540115	C	T	111540115	2	4	104	1	0	0	0	0	0	0	0	1	14403	883	31	1		1	SLC16A10	6	111540115	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	251263	111540115	59574952	2817	69431											
REV3L	5980	broad.mit.edu	37	chr6	111680142	111680142	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaacagagcacagattgggtCaaattcaggatccggttcta	11	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:111680142C>A	uc003puy.3	-	17	7278	c.6955G>T	c.(6955-6957)GAC>TAC	p.D2319Y	REV3L_uc003pux.3_Missense_Mutation_p.D2241Y|REV3L_uc003puz.3_Missense_Mutation_p.D2241Y|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2319					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CAGATTGGGTCAAATTCAGGA	0.388								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	111680142	C	A	111680142	3	1	104	1	0	0	0	0	1	0	0	0	13240	826	29	5	2501	5	REV3L	6	111680142	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	140027	111680142	59434925	2818	69432											
REV3L	5980	broad.mit.edu	37	chr6	111694807	111694807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttttgtacttctgggagttCgaggttttcttggggacgtt	14	5	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:111694807C>T	uc003puy.3	-	13	5074	c.4751G>A	c.(4750-4752)CGA>CAA	p.R1584Q	REV3L_uc003pux.3_Missense_Mutation_p.R1506Q|REV3L_uc003puz.3_Missense_Mutation_p.R1506Q	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1584					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCTGGGAGTTCGAGGTTTTCT	0.353								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	111694807	C	T	111694807	3	4	104	1	0	0	0	0	1	0	0	0	13240	884	31	1	4721	1	REV3L	6	111694807	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	14665	111694807	59420260	2819	69433											
REV3L	5980	broad.mit.edu	37	chr6	111695509	111695509	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttttgaattaacgttgatTcctttagagtaaacatagca	6	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:111695509T>C	uc003puy.3	-	13	4372	c.4049A>G	c.(4048-4050)GAA>GGA	p.E1350G	REV3L_uc003pux.3_Missense_Mutation_p.E1272G|REV3L_uc003puz.3_Missense_Mutation_p.E1272G	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1350					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TAACGTTGATTCCTTTAGAGT	0.328								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					C	111695509	T	C	111695509	3	2	104	1	0	0	0	0	1	0	0	0	13240	1783	62	3	5423	3	REV3L	6	111695509	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	702	111695509	59419558	2820	69434											
REV3L	5980	broad.mit.edu	37	chr6	111709117	111709117	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccacagatcctgataatgttCtgcttaattaaaacatatcc	4	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:111709117C>A	uc003puy.3	-	9	1271	c.948_splice	c.e9-1	p.V316_splice	REV3L_uc003pux.3_Splice_Site_p.V238_splice|REV3L_uc003puz.3_Splice_Site_p.V238_splice	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta						DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGATAATGTTCTGCTTAATTA	0.358								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	111709117	C	A	111709117	5	1	104	1	0	0	0	0	0	0	1	0	13240	927	32	5	8541	5	REV3L	6	111709117	Splice_Site	SNP	C	TCGA-BR-8680-01A-11D-2394-08	13608	111709117	59405950	2821	69435											
FYN	2534	broad.mit.edu	37	chr6	111995824	111995824	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggccgtccacttgatggggAactttgcacctgcagaatga	13	10	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:111995824A>C	uc003pvj.2	-	12	1623	c.1283T>G	c.(1282-1284)TTC>TGC	p.F428C	FYN_uc003pvi.2_Missense_Mutation_p.F373C|FYN_uc003pvk.2_Missense_Mutation_p.F428C|FYN_uc003pvh.2_Missense_Mutation_p.F425C	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	428	Protein kinase.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|central_nervous_system(1)|skin(1)	7		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	CTTGATGGGGAACTTTGCACC	0.542													C	111995824	A	C	111995824	3	2	104	1	0	0	0	0	1	0	0	0	6126	246	9	5	338	5	FYN	6	111995824	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	286707	111995824	59119243	2822	69436											
WISP3	8838	broad.mit.edu	37	chr6	112389552	112389552	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaaatgagaaaagagaaaaGactgtgttacattcagcctt	9	5	1	4	rs146519527		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:112389552G>A	uc003pvm.2	+	5	844	c.734G>A	c.(733-735)AGA>AAA	p.R245K	WISP3_uc003pvn.2_RNA|WISP3_uc003pvo.2_Missense_Mutation_p.R263K	NM_003880	NP_003871	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	245	TSP type-1.				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding				0		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		AAAGAGAAAAGACTGTGTTAC	0.343													A	112389552	G	A	112389552	3	1	104	1	0	0	0	0	1	0	0	0	17371	942	33	4	802	4	WISP3	6	112389552	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	393728	112389552	58725515	2823	69437											
TUBE1	51175	broad.mit.edu	37	chr6	112397530	112397530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcatttcttacttgatTgtcaatgggcaatacacagt	7	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:112397530T>C	uc003pvq.2	-	7	745	c.631A>G	c.(631-633)AAT>GAT	p.N211D	TUBE1_uc003pvr.2_Missense_Mutation_p.N136D	NM_016262	NP_057346	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	211					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			ovary(1)	1		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CTTACTTGATTGTCAATGGGC	0.338													C	112397530	T	C	112397530	3	2	104	1	0	0	0	0	1	0	0	0	16760	1812	63	3	820	3	TUBE1	6	112397530	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	7978	112397530	58717537	2824	69438											
LAMA4	3910	broad.mit.edu	37	chr6	112496523	112496523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatacacctacgttcgtaaGcctcatctgcctcctcatcc	5	16	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:112496523G>A	uc003pvu.2	-	11	1658	c.1349C>T	c.(1348-1350)GCT>GTT	p.A450V	LAMA4_uc003pvv.2_Missense_Mutation_p.A443V|LAMA4_uc003pvt.2_Missense_Mutation_p.A443V	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	450	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ACGTTCGTAAGCCTCATCTGC	0.483													A	112496523	G	A	112496523	3	1	104	1	0	0	0	0	1	0	0	0	8608	971	34	2	4238	2	LAMA4	6	112496523	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	98993	112496523	58618544	2825	69439											
LAMA4	3910	broad.mit.edu	37	chr6	112513010	112513010	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcacatttcttacaggtGcttccaatgagtaaggggtt	10	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:112513010G>A	uc003pvu.2	-	6	855	c.546C>T	c.(544-546)AGC>AGT	p.S182S	LAMA4_uc003pvv.2_Silent_p.S182S|LAMA4_uc003pvt.2_Silent_p.S182S	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	182	Laminin EGF-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCTTACAGGTGCTTCCAATGA	0.398													A	112513010	G	A	112513010	2	1	104	1	0	0	0	0	0	0	0	1	8608	1310	46	2		2	LAMA4	6	112513010	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	16487	112513010	58602057	2826	69440											
COL10A1	1300	broad.mit.edu	37	chr6	116441409	116441409	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggtgtattcatcataggTgtacattacaggggtgccat	11	6	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:116441409T>C	uc003pwm.2	-	3	1966	c.1870A>G	c.(1870-1872)ACC>GCC	p.T624A	NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	type X collagen alpha 1 precursor	624	Nonhelical region (NC1).|C1q.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)	1		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TCATCATAGGTGTACATTACA	0.463													C	116441409	T	C	116441409	3	2	104	1	0	0	0	0	1	0	0	0	3666	1696	59	3	176	3	COL10A1	6	116441409	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	3928399	116441409	54673658	2827	69441											
COL10A1	1300	broad.mit.edu	37	chr6	116441517	116441517	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtatctgacaagtaaagaTtccagtccttgggtcataat	9	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:116441517T>G	uc003pwm.2	-	3	1858	c.1762A>C	c.(1762-1764)ATC>CTC	p.I588L	NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	type X collagen alpha 1 precursor	588	Nonhelical region (NC1).|C1q.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)	1		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		CAAGTAAAGATTCCAGTCCTT	0.403													G	116441517	T	G	116441517	3	3	104	1	0	0	0	0	1	0	0	0	3666	1493	52	5	284	5	COL10A1	6	116441517	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	108	116441517	54673550	2828	69442											
FAM162B	221303	broad.mit.edu	37	chr6	117086337	117086337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggcgggatctcctccatcGatttgaaacgccctgtccac	10	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:117086337G>A	uc003pxi.2	-	2	401	c.254C>T	c.(253-255)TCG>TTG	p.S85L		NM_001085480	NP_001078949	Q5T6X4	F162B_HUMAN	hypothetical protein LOC221303	85						integral to membrane					0						CTCCTCCATCGATTTGAAACG	0.637													A	117086337	G	A	117086337	3	1	104	1	0	0	0	0	1	0	0	0	5475	1059	37	1	246	1	FAM162B	6	117086337	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	644820	117086337	54028730	2829	69443											
GPRC6A	222545	broad.mit.edu	37	chr6	117127925	117127925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccaatctttttaacattagGaatggtggtaatcttggtgg	11	5	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:117127925G>A	uc003pxj.1	-	3	965	c.943C>T	c.(943-945)CCT>TCT	p.P315S	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.P315S	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	315	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTAACATTAGGAATGGTGGTA	0.363													A	117127925	G	A	117127925	3	1	104	1	0	0	0	0	1	0	0	0	6728	1174	41	4	1853	4	GPRC6A	6	117127925	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	41588	117127925	53987142	2830	69444											
RFX6	222546	broad.mit.edu	37	chr6	117203536	117203536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctttctttttagacaattCgccagaagtttcccctccta	4	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:117203536C>T	uc003pxm.2	+	4	574	c.511C>T	c.(511-513)CGC>TGC	p.R171C		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	171	RFX-type winged-helix.				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						TTAGACAATTCGCCAGAAGTT	0.403													T	117203536	C	T	117203536	3	4	104	1	0	0	0	0	1	0	0	0	13267	884	31	1	525	1	RFX6	6	117203536	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	75611	117203536	53911531	2831	69445											
RFX6	222546	broad.mit.edu	37	chr6	117203581	117203581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggcggcttggaacaagaGgccattcaaagtaagatacc	11	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:117203581G>A	uc003pxm.2	+	4	619	c.556G>A	c.(556-558)GGC>AGC	p.G186S		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	186	RFX-type winged-helix.				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						TGGAACAAGAGGCCATTCAAA	0.383													A	117203581	G	A	117203581	3	1	104	1	0	0	0	0	1	0	0	0	13267	1000	35	4	570	4	RFX6	6	117203581	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	45	117203581	53911486	2832	69446											
ROS1	6098	broad.mit.edu	37	chr6	117641051	117641051	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttcactgctactttgatttCtccacttccaactcctaaga	3	14	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:117641051C>T	uc003pxp.1	-	36	6119	c.5920G>A	c.(5920-5922)GAA>AAA	p.E1974K	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Missense_Mutation_p.E300K	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1974	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACTTTGATTTCTCCACTTCCA	0.413			T	GOPC|ROS1	glioblastoma|NSCLC								T	117641051	C	T	117641051	3	4	104	1	0	0	0	0	1	0	0	0	13531	922	32	4	1155	4	ROS1	6	117641051	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	437470	117641051	53474016	2833	69447											
ROS1	6098	broad.mit.edu	37	chr6	117647545	117647545	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtcatcttccaccttaaaTtctggttctgtaaattattt	4	8	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:117647545T>G	uc003pxp.1	-	33	5598	c.5399A>C	c.(5398-5400)AAT>ACT	p.N1800T	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1800	Fibronectin type-III 9.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCACCTTAAATTCTGGTTCTG	0.323			T	GOPC|ROS1	glioblastoma|NSCLC								G	117647545	T	G	117647545	3	3	104	1	0	0	0	0	1	0	0	0	13531	1493	52	5	1688	5	ROS1	6	117647545	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	6494	117647545	53467522	2834	69448											
ROS1	6098	broad.mit.edu	37	chr6	117658374	117658374	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggaagtgaggtgctattttCtcccgtcttataaaccacca	8	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:117658374C>A	uc003pxp.1	-	31	5408	c.5209G>T	c.(5209-5211)GAA>TAA	p.E1737*	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1737	Fibronectin type-III 8.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTGCTATTTTCTCCCGTCTTA	0.358			T	GOPC|ROS1	glioblastoma|NSCLC								A	117658374	C	A	117658374	4	1	104	1	0	0	0	0	0	1	0	0	13531	922	32	5	1886	5	ROS1	6	117658374	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	10829	117658374	53456693	2835	69449											
SLC35F1	222553	broad.mit.edu	37	chr6	118588164	118588164	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atccctcccaatagctcctgGactgttttgtgatcccagtc	7	14	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:118588164G>T	uc003pxx.3	+	4	685	c.484G>T	c.(484-486)GAC>TAC	p.D162Y	SLC35F1_uc003pxy.1_5'UTR	NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	162	Helical; (Potential).				transport	integral to membrane				breast(1)	1				GBM - Glioblastoma multiforme(226;0.217)		ATAGCTCCTGGACTGTTTTGT	0.473													T	118588164	G	T	118588164	3	4	104	1	0	0	0	0	1	0	0	0	14588	1174	41	5	498	5	SLC35F1	6	118588164	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	929790	118588164	52526903	2836	69450											
C6orf204	387119	broad.mit.edu	37	chr6	118844970	118844970	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaaaatagactcaccgatcGattacaatttctttctgcct	4	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:118844970G>A	uc003pxz.1	-	4	1722	c.1134C>T	c.(1132-1134)ATC>ATT	p.I378I	C6orf204_uc003pya.1_Silent_p.I381I|C6orf204_uc003pyb.2_Silent_p.I378I|C6orf204_uc011ebj.1_Silent_p.I276I|C6orf204_uc003pyc.2_Silent_p.I381I	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	378						centrosome				breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)		CTCACCGATCGATTACAATTT	0.308													A	118844970	G	A	118844970	2	1	104	1	0	0	0	0	0	0	0	1	2353	1048	37	1		1	C6orf204	6	118844970	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	256806	118844970	52270097	2837	69451											
ASF1A	25842	broad.mit.edu	37	chr6	119221986	119221986	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtgaagaatacgatcaAgttttagactctgttttagt	9	4	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:119221986A>C	uc011ebn.1	+	2	502	c.165A>C	c.(163-165)CAA>CAC	p.Q55H		NM_014034	NP_054753	Q9Y294	ASF1A_HUMAN	ASF1 anti-silencing function 1 homolog A	55	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent	chromatin remodeling complex	chromatin binding|histone binding				0		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		AATACGATCAAGTTTTAGACT	0.348													C	119221986	A	C	119221986	3	2	104	1	0	0	0	0	1	0	0	0	1037	69	3	5	58	5	ASF1A	6	119221986	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	377016	119221986	51893081	2838	69452											
ASF1A	25842	broad.mit.edu	37	chr6	119226904	119226904	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttgtacctatcgaggacaaGaatttattagagttggctat	9	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:119226904G>T	uc011ebn.1	+	3	650	c.313G>T	c.(313-315)GAA>TAA	p.E105*		NM_014034	NP_054753	Q9Y294	ASF1A_HUMAN	ASF1 anti-silencing function 1 homolog A	105	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent	chromatin remodeling complex	chromatin binding|histone binding				0		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		TCGAGGACAAGAATTTATTAG	0.358													T	119226904	G	T	119226904	4	4	104	1	0	0	0	0	0	1	0	0	1037	943	33	5	210	5	ASF1A	6	119226904	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4918	119226904	51888163	2839	69453											
FAM184A	79632	broad.mit.edu	37	chr6	119345901	119345901	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaagaatttgttgaatTtcttcttcatgagcatcttt	6	7	5	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:119345901T>G	uc003pyj.2	-	2	585	c.237A>C	c.(235-237)GAA>GAC	p.E79D	FAM184A_uc003pyk.3_5'UTR|FAM184A_uc003pyl.3_5'UTR	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	79	Potential.									ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						TTTGTTGAATTTCTTCTTCAT	0.323													G	119345901	T	G	119345901	3	3	104	1	0	0	0	0	1	0	0	0	5511	1838	64	5	3253	5	FAM184A	6	119345901	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	118997	119345901	51769166	2840	69454											
MAN1A1	4121	broad.mit.edu	37	chr6	119510876	119510876	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacgggcaatttcagccccgAgttcaaggtagtgttgggcc	13	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:119510876A>G	uc003pym.1	-	10	1941	c.1499T>C	c.(1498-1500)CTC>CCC	p.L500P		NM_005907	NP_005898	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	500	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TTCAGCCCCGAGTTCAAGGTA	0.498													G	119510876	A	G	119510876	3	3	104	1	0	0	0	0	1	0	0	0	9210	304	11	3	478	3	MAN1A1	6	119510876	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	164975	119510876	51604191	2841	69455											
C6orf170	221322	broad.mit.edu	37	chr6	121642797	121642797	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actctttagattcttgagttCttttagtgacctgctgtaca	7	8	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:121642797C>A	uc003pyo.1	-	2	367	c.299G>T	c.(298-300)AGA>ATA	p.R100I	C6orf170_uc003pyq.1_RNA	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	100					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		TTCTTGAGTTCTTTTAGTGAC	0.274													A	121642797	C	A	121642797	3	1	104	1	0	0	0	0	1	0	0	0	2344	913	32	5	3598	5	C6orf170	6	121642797	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2131921	121642797	49472270	2842	69456											
HSF2	3298	broad.mit.edu	37	chr6	122753198	122753198	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctctgtagataaacccataGaagttgatgagcttctggat	9	8	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:122753198G>A	uc003pyu.2	+	13	1631	c.1444G>A	c.(1444-1446)GAA>AAA	p.E482K	HSF2_uc003pyv.2_Missense_Mutation_p.E464K	NM_004506	NP_004497	Q03933	HSF2_HUMAN	heat shock transcription factor 2 isoform a	482					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TAAACCCATAGAAGTTGATGA	0.473													A	122753198	G	A	122753198	3	1	104	1	0	0	0	0	1	0	0	0	7396	943	33	4	1494	4	HSF2	6	122753198	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1110401	122753198	48361869	2843	69457											
SMPDL3A	10924	broad.mit.edu	37	chr6	123124953	123124953	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggctagaaagtacattgaAcaactctcagcagaataagg	9	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:123124953A>C	uc003pzg.2	+	5	1234	c.713A>C	c.(712-714)AAC>ACC	p.N238T	SMPDL3A_uc003pzh.2_Missense_Mutation_p.N107T	NM_006714	NP_006705	Q92484	ASM3A_HUMAN	acid sphingomyelinase-like phosphodiesterase 3A	238					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity				0				GBM - Glioblastoma multiforme(226;0.236)		AGTACATTGAACAACTCTCAG	0.398													C	123124953	A	C	123124953	3	2	104	1	0	0	0	0	1	0	0	0	14808	43	2	5	731	5	SMPDL3A	6	123124953	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	371755	123124953	47990114	2844	69458											
TRDN	10345	broad.mit.edu	37	chr6	123699033	123699033	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggttccacatgtttttctttCttttcctgttctgaaacata	5	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:123699033C>A	uc003pzj.1	-	17	1219	c.1197G>T	c.(1195-1197)AAG>AAT	p.K399N	TRDN_uc003pzk.1_Missense_Mutation_p.K400N|TRDN_uc003pzl.1_Missense_Mutation_p.K400N|TRDN_uc010kem.1_5'UTR	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	399	Lumenal.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)		GTTTTTCTTTCTTTTCCTGTT	0.234													A	123699033	C	A	123699033	3	1	104	1	0	0	0	0	1	0	0	0	16465	912	32	5	1092	5	TRDN	6	123699033	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	574080	123699033	47416034	2845	69459											
RSPO3	84870	broad.mit.edu	37	chr6	127469858	127469858	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcagattacaatggatgtTtgtcatgtaagcccagacta	9	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:127469858T>G	uc003qar.2	+	2	453	c.163T>G	c.(163-165)TTG>GTG	p.L55V	RSPO3_uc003qas.1_Missense_Mutation_p.L55V	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	R-spondin 3 precursor	55	FU 1.					extracellular region	heparin binding				0				GBM - Glioblastoma multiforme(226;0.0555)		CAATGGATGTTTGTCATGTAA	0.423													G	127469858	T	G	127469858	3	3	104	1	0	0	0	0	1	0	0	0	13711	1838	64	5	169	5	RSPO3	6	127469858	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	3770825	127469858	43645209	2846	69460											
RNF146	81847	broad.mit.edu	37	chr6	127608756	127608756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatcgatcgggaactgatcGatcagtagcagggggtggaa	16	6	1	2	rs143742264		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:127608756G>A	uc003qav.2	+	3	1157	c.998G>A	c.(997-999)CGA>CAA	p.R333Q	RNF146_uc003qat.2_Missense_Mutation_p.R332Q|RNF146_uc003qau.2_Missense_Mutation_p.R332Q|RNF146_uc003qaw.2_Missense_Mutation_p.R332Q	NM_030963	NP_112225	Q9NTX7	RN146_HUMAN	ring finger protein 146	333					positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GGAACTGATCGATCAGTAGCA	0.463													A	127608756	G	A	127608756	3	1	104	1	0	0	0	0	1	0	0	0	13448	1058	37	1	997	1	RNF146	6	127608756	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	138898	127608756	43506311	2847	69461											
C6orf174	387104	broad.mit.edu	37	chr6	127797590	127797590	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttaacaaactgcagctgGcacttcagatcttcattgtc	6	12	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:127797590G>A	uc003qbd.2	-	6	2446	c.1581C>T	c.(1579-1581)TGC>TGT	p.C527C	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	527	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		ACTGCAGCTGGCACTTCAGAT	0.408													A	127797590	G	A	127797590	2	1	104	1	0	0	0	0	0	0	0	1	2345	1195	42	2		2	C6orf174	6	127797590	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	188834	127797590	43317477	2848	69462											
THEMIS	387357	broad.mit.edu	37	chr6	128150816	128150816	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcttcacactcgtagaattCtccttcttgtgacaaaggca	6	11	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:128150816C>A	uc003qbi.2	-	4	833	c.514G>T	c.(514-516)GAA>TAA	p.E172*	THEMIS_uc010kfa.2_Nonsense_Mutation_p.E75*|THEMIS_uc011ebt.1_Nonsense_Mutation_p.E172*|THEMIS_uc010kfb.2_Nonsense_Mutation_p.E137*	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	172	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4						TCGTAGAATTCTCCTTCTTGT	0.368													A	128150816	C	A	128150816	4	1	104	1	0	0	0	0	0	1	0	0	15857	922	32	5	1548	5	THEMIS	6	128150816	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	353226	128150816	42964251	2849	69463											
THEMIS	387357	broad.mit.edu	37	chr6	128176253	128176253	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaatttcagctatgatctTcttaactttgagaccagtaa	5	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:128176253T>C	uc003qbi.2	-	3	491	c.172A>G	c.(172-174)AAG>GAG	p.K58E	THEMIS_uc010kfa.2_5'UTR|THEMIS_uc011ebt.1_Missense_Mutation_p.K58E|THEMIS_uc010kfb.2_Missense_Mutation_p.K23E	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	58	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4						GCTATGATCTTCTTAACTTTG	0.353													C	128176253	T	C	128176253	3	2	104	1	0	0	0	0	1	0	0	0	15857	1792	62	3	1894	3	THEMIS	6	128176253	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	25437	128176253	42938814	2850	69464											
LAMA2	3908	broad.mit.edu	37	chr6	129380932	129380932	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgctgctaactcaatagagaGacacccgattacaaatgcta	7	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:129380932G>T	uc003qbn.2	+	3	392	c.287G>T	c.(286-288)AGA>ATA	p.R96I	LAMA2_uc003qbo.2_Missense_Mutation_p.R96I	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	96	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCAATAGAGAGACACCCGATT	0.333													T	129380932	G	T	129380932	3	4	104	1	0	0	0	0	1	0	0	0	8606	942	33	5	297	5	LAMA2	6	129380932	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1204679	129380932	41734135	2851	69465											
LAMA2	3908	broad.mit.edu	37	chr6	129826403	129826403	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtagatggggcttccaacaGaaccatcagtcccaaaaaag	9	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:129826403G>T	uc003qbn.2	+	60	8711	c.8606G>T	c.(8605-8607)AGA>ATA	p.R2869I	LAMA2_uc003qbo.2_Missense_Mutation_p.R2865I|uc003qbq.2_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2869	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTTCCAACAGAACCATCAGT	0.413													T	129826403	G	T	129826403	3	4	104	1	0	0	0	0	1	0	0	0	8606	942	33	5	8848	5	LAMA2	6	129826403	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	445471	129826403	41288664	2852	69466											
C6orf191	253582	broad.mit.edu	37	chr6	130154651	130154651	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atagtgactgaaatagcataAtcccaaacccattcttccac	4	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:130154651A>C	uc003qbs.2	-	4	356	c.273T>G	c.(271-273)GAT>GAG	p.D91E		NM_001010876	NP_001010876	Q5VVB8	CF191_HUMAN	hypothetical protein LOC253582	91						integral to membrane				large_intestine(1)	1				GBM - Glioblastoma multiforme(226;0.0387)|all cancers(137;0.115)|OV - Ovarian serous cystadenocarcinoma(155;0.131)		AAATAGCATAATCCCAAACCC	0.343													C	130154651	A	C	130154651	3	2	104	1	0	0	0	0	1	0	0	0	2348	98	4	5	121	5	C6orf191	6	130154651	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	328248	130154651	40960416	2853	69467											
SAMD3	154075	broad.mit.edu	37	chr6	130497126	130497126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttcgaacatatttaaagcGatctttgagggctcgtttcc	8	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:130497126G>A	uc003qbv.2	-	9	1008	c.682C>T	c.(682-684)CGC>TGC	p.R228C	SAMD3_uc003qbx.2_Missense_Mutation_p.R228C|SAMD3_uc003qbw.2_Missense_Mutation_p.R228C|SAMD3_uc010kfg.1_3'UTR	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	228										ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TATTTAAAGCGATCTTTGAGG	0.353													A	130497126	G	A	130497126	3	1	104	1	0	0	0	0	1	0	0	0	13820	1058	37	1	900	1	SAMD3	6	130497126	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	342475	130497126	40617941	2854	69468											
SAMD3	154075	broad.mit.edu	37	chr6	130505666	130505666	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgatccgggcacttctgCtctgctaacatgcatttgac	9	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:130505666C>T	uc003qbv.2	-	7	812	c.486G>A	c.(484-486)GAG>GAA	p.E162E	SAMD3_uc003qbx.2_Silent_p.E162E|SAMD3_uc003qbw.2_Silent_p.E162E|SAMD3_uc010kfg.1_Silent_p.E162E|SAMD3_uc003qby.2_Silent_p.E162E|SAMD3_uc003qbz.1_Silent_p.E121E	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	162										ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GGCACTTCTGCTCTGCTAACA	0.443													T	130505666	C	T	130505666	2	4	104	1	0	0	0	0	0	0	0	1	13820	796	28	2		2	SAMD3	6	130505666	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	8540	130505666	40609401	2855	69469											
TMEM200A	114801	broad.mit.edu	37	chr6	130762121	130762121	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaaatgaacggcatgtAcactggtttgatgggagaaa	13	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:130762121A>G	uc003qca.2	+	3	1425	c.554A>G	c.(553-555)TAC>TGC	p.Y185C	TMEM200A_uc010kfh.2_Missense_Mutation_p.Y185C|TMEM200A_uc010kfi.2_Missense_Mutation_p.Y185C|TMEM200A_uc003qcb.2_Missense_Mutation_p.Y185C	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	185	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AACGGCATGTACACTGGTTTG	0.453													G	130762121	A	G	130762121	3	3	104	1	0	0	0	0	1	0	0	0	16120	391	14	3	556	3	TMEM200A	6	130762121	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	256455	130762121	40352946	2856	69470											
TMEM200A	114801	broad.mit.edu	37	chr6	130762228	130762228	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgggttttcggagcagttttCgaatggacagctccgtggag	15	8	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:130762228C>T	uc003qca.2	+	3	1532	c.661C>T	c.(661-663)CGA>TGA	p.R221*	TMEM200A_uc010kfh.2_Nonsense_Mutation_p.R221*|TMEM200A_uc010kfi.2_Nonsense_Mutation_p.R221*|TMEM200A_uc003qcb.2_Nonsense_Mutation_p.R221*	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	221	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GAGCAGTTTTCGAATGGACAG	0.478													T	130762228	C	T	130762228	4	4	104	1	0	0	0	0	0	1	0	0	16120	876	31	1	663	1	TMEM200A	6	130762228	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	107	130762228	40352839	2857	69471											
EPB41L2	2037	broad.mit.edu	37	chr6	131276416	131276416	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttgtcttcctgtgtttcTtttaccttctcttctctctc	3	12	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:131276416T>G	uc003qch.2	-	3	716	c.534A>C	c.(532-534)AAA>AAC	p.K178N	EPB41L2_uc003qcg.1_Missense_Mutation_p.K178N|EPB41L2_uc011eby.1_Missense_Mutation_p.K178N|EPB41L2_uc003qci.2_Missense_Mutation_p.K178N|EPB41L2_uc010kfk.2_Missense_Mutation_p.K178N|EPB41L2_uc010kfl.1_Missense_Mutation_p.K178N	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	178					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CCTGTGTTTCTTTTACCTTCT	0.393													G	131276416	T	G	131276416	3	3	104	1	0	0	0	0	1	0	0	0	5153	1606	56	5	2551	5	EPB41L2	6	131276416	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	514188	131276416	39838651	2858	69472											
MED23	9439	broad.mit.edu	37	chr6	131911481	131911481	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctctatcatacaacgagttCtctcttgctgaaatctttgt	5	11	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:131911481C>A	uc003qcs.1	-	27	3962	c.3788G>T	c.(3787-3789)AGA>ATA	p.R1263I	MED23_uc003qcq.2_Missense_Mutation_p.R1269I|MED23_uc003qcr.1_Missense_Mutation_p.R118I	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	1263					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ACAACGAGTTCTCTCTTGCTG	0.303													A	131911481	C	A	131911481	3	1	104	1	0	0	0	0	1	0	0	0	9441	913	32	5	337	5	MED23	6	131911481	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	635065	131911481	39203586	2859	69473											
ENPP1	5167	broad.mit.edu	37	chr6	132179855	132179855	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagaccggtatatccaacaAaaactttccccaatcactac	4	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:132179855A>C	uc011ecf.1	+	7	783	c.763A>C	c.(763-765)AAA>CAA	p.K255Q	ENPP1_uc003qcy.2_5'Flank	NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	255	Phosphodiesterase.|Extracellular (Potential).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ATATCCAACAAAAACTTTCCC	0.338													C	132179855	A	C	132179855	3	2	104	1	0	0	0	0	1	0	0	0	5129	15	1	5	789	5	ENPP1	6	132179855	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	268374	132179855	38935212	2860	69474											
MOXD1	26002	broad.mit.edu	37	chr6	132641802	132641802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctatctttcgtgttgtagCgacactcagtaattaggtta	8	8	3	0	rs142592039	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:132641802C>T	uc003qdf.2	-	9	1430	c.1331G>A	c.(1330-1332)CGC>CAC	p.R444H	MOXD1_uc003qde.2_Missense_Mutation_p.R376H	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	444	Lumenal (Potential).				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CGTGTTGTAGCGACACTCAGT	0.308													T	132641802	C	T	132641802	3	4	104	1	0	0	0	0	1	0	0	0	9720	768	27	1	526	1	MOXD1	6	132641802	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	461947	132641802	38473265	2861	69475											
EYA4	2070	broad.mit.edu	37	chr6	133827290	133827290	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actccgcatggaagaaatgaTttttaatcttgctgatactc	7	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:133827290T>G	uc003qec.3	+	14	1696	c.1238T>G	c.(1237-1239)ATT>AGT	p.I413S	EYA4_uc011ecq.1_Missense_Mutation_p.I359S|EYA4_uc011ecr.1_Missense_Mutation_p.I365S|EYA4_uc003qed.3_Missense_Mutation_p.I413S|EYA4_uc003qee.3_Missense_Mutation_p.I390S|EYA4_uc011ecs.1_Missense_Mutation_p.I419S|uc003qef.1_RNA|uc003qeg.1_RNA	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	413					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GAAGAAATGATTTTTAATCTT	0.353													G	133827290	T	G	133827290	3	3	104	1	0	0	0	0	1	0	0	0	5331	1493	52	5	1288	5	EYA4	6	133827290	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1185488	133827290	37287777	2862	69476											
AHI1	54806	broad.mit.edu	37	chr6	135752450	135752450	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atctcctgaatacatatgatGacctatttaaaaaaataaga	4	6	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:135752450G>T	uc003qgi.2	-	17	2653	c.2269C>A	c.(2269-2271)CAT>AAT	p.H757N	AHI1_uc003qgf.2_RNA|AHI1_uc003qgg.2_Missense_Mutation_p.H207N|AHI1_uc003qgh.2_Missense_Mutation_p.H757N|AHI1_uc003qgj.2_Missense_Mutation_p.H757N|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.H757N	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	757	WD 4.					adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TACATATGATGACCTATTTAA	0.348													T	135752450	G	T	135752450	3	4	104	1	0	0	0	0	1	0	0	0	413	1290	45	5	1430	5	AHI1	6	135752450	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1925160	135752450	35362617	2863	69477											
BCLAF1	9774	broad.mit.edu	37	chr6	136589344	136589344	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctgcaaagcctgagtattCtttcatttcatggtgagttt	8	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:136589344C>A	uc003qgx.1	-	10	2606	c.2353G>T	c.(2353-2355)GAA>TAA	p.E785*	BCLAF1_uc011edb.1_Nonsense_Mutation_p.E113*|BCLAF1_uc003qgw.1_Nonsense_Mutation_p.E612*|BCLAF1_uc003qgy.1_Nonsense_Mutation_p.E783*|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Nonsense_Mutation_p.E783*	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	785					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCTGAGTATTCTTTCATTTCA	0.383													A	136589344	C	A	136589344	4	1	104	1	0	0	0	0	0	1	0	0	1383	922	32	5	425	5	BCLAF1	6	136589344	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	836894	136589344	34525723	2864	69478											
BCLAF1	9774	broad.mit.edu	37	chr6	136590593	136590593	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgtcatctttgtaagatTtgtattccttgtaatctttt	5	7	3	1	rs142580882		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:136590593T>G	uc003qgx.1	-	9	2454	c.2201A>C	c.(2200-2202)AAA>ACA	p.K734T	BCLAF1_uc011edb.1_5'Flank|BCLAF1_uc003qgw.1_Missense_Mutation_p.K561T|BCLAF1_uc003qgy.1_Missense_Mutation_p.K732T|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.K732T	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	734					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTTGTAAGATTTGTATTCCTT	0.348													G	136590593	T	G	136590593	3	3	104	1	0	0	0	0	1	0	0	0	1383	1841	64	5	581	5	BCLAF1	6	136590593	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1249	136590593	34524474	2865	69479											
MAP3K5	4217	broad.mit.edu	37	chr6	136888937	136888937	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatttgaaggctgttcctcaTggtcatcttctacatccaag	8	10	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:136888937T>C	uc003qhc.2	-	26	3954	c.3593A>G	c.(3592-3594)CAT>CGT	p.H1198R	MAP3K5_uc011edj.1_Missense_Mutation_p.H445R|MAP3K5_uc011edk.1_Missense_Mutation_p.H1044R	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	1198					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)|skin(2)|lung(1)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CTGTTCCTCATGGTCATCTTC	0.468													C	136888937	T	C	136888937	3	2	104	1	0	0	0	0	1	0	0	0	9253	1464	51	3	551	3	MAP3K5	6	136888937	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	298344	136888937	34226130	2866	69480											
MAP3K5	4217	broad.mit.edu	37	chr6	136904864	136904864	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtgttcccattttagtttCggttcttcagccccctgtga	8	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:136904864C>T	uc003qhc.2	-	24	3601	c.3240G>A	c.(3238-3240)CCG>CCA	p.P1080P	MAP3K5_uc011edj.1_Silent_p.P327P|MAP3K5_uc011edk.1_Silent_p.P926P	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	1080					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)|skin(2)|lung(1)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ATTTTAGTTTCGGTTCTTCAG	0.448													T	136904864	C	T	136904864	2	4	104	1	0	0	0	0	0	0	0	1	9253	871	31	1		1	MAP3K5	6	136904864	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	15927	136904864	34210203	2867	69481											
MAP3K5	4217	broad.mit.edu	37	chr6	136923031	136923031	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacaggctctcttgtcaggAtctggttcaaaacatttcag	9	10	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:136923031A>G	uc003qhc.2	-	20	3127	c.2766T>C	c.(2764-2766)GAT>GAC	p.D922D	MAP3K5_uc011edj.1_Silent_p.D169D|MAP3K5_uc011edk.1_Silent_p.D767D	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	922	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)|skin(2)|lung(1)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCTTGTCAGGATCTGGTTCAA	0.408													G	136923031	A	G	136923031	2	3	104	1	0	0	0	0	0	0	0	1	9253	330	12	3		3	MAP3K5	6	136923031	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	18167	136923031	34192036	2868	69482											
KIAA1244	57221	broad.mit.edu	37	chr6	138644882	138644882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgtgccctgcaagatgCgttctctgccacactcaagc	9	15	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:138644882C>T	uc003qhu.2	+	30	4841	c.4841C>T	c.(4840-4842)GCG>GTG	p.A1614V		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1614					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTGCAAGATGCGTTCTCTGCC	0.527													T	138644882	C	T	138644882	3	4	104	1	0	0	0	0	1	0	0	0	8217	768	27	1	4959	1	KIAA1244	6	138644882	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1721851	138644882	32470185	2869	69483											
KIAA1244	57221	broad.mit.edu	37	chr6	138655224	138655224	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctcctggagaggaaaagacGatacaagtgccagaagccaa	11	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:138655224G>A	uc003qhu.2	+	33	5241	c.5241G>A	c.(5239-5241)ACG>ACA	p.T1747T		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1747					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGGAAAAGACGATACAAGTGC	0.478													A	138655224	G	A	138655224	2	1	104	1	0	0	0	0	0	0	0	1	8217	1045	37	1		1	KIAA1244	6	138655224	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	10342	138655224	32459843	2870	69484											
REPS1	85021	broad.mit.edu	37	chr6	139241371	139241371	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctacagtattaccagaagcGaatttcaccgatgaatttat	6	9	1	2	rs35695721	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:139241371G>A	uc003qii.2	-	12	2088	c.1509C>T	c.(1507-1509)TTC>TTT	p.F503F	REPS1_uc003qig.3_Silent_p.F476F|REPS1_uc011edr.1_Silent_p.F503F|REPS1_uc003qij.2_Silent_p.F476F|REPS1_uc003qik.2_Silent_p.F109F	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	503						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACCAGAAGCGAATTTCACCG	0.328													A	139241371	G	A	139241371	2	1	104	1	0	0	0	0	0	0	0	1	13228	1049	37	1		1	REPS1	6	139241371	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	586147	139241371	31873696	2871	69485											
TXLNB	167838	broad.mit.edu	37	chr6	139564361	139564361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgatttttttgtggagttCgtttctctcttcttgtaaag	8	6	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:139564361C>T	uc011eds.1	-	10	1522	c.1357G>A	c.(1357-1359)GAA>AAA	p.E453K		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	453	Potential.					cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TTGTGGAGTTCGTTTCTCTCT	0.438													T	139564361	C	T	139564361	3	4	104	1	0	0	0	0	1	0	0	0	16785	893	31	1	701	1	TXLNB	6	139564361	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	322990	139564361	31550706	2872	69486											
GPR126	57211	broad.mit.edu	37	chr6	142691792	142691792	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggggacatttataactttCgactttggaattttaccatg	8	6	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:142691792C>T	uc010khc.2	+	4	1342	c.931C>T	c.(931-933)CGA>TGA	p.R311*	GPR126_uc010khd.2_Nonsense_Mutation_p.R311*|GPR126_uc010khe.2_Nonsense_Mutation_p.R311*|GPR126_uc010khf.2_Nonsense_Mutation_p.R311*|GPR126_uc003qix.2_Nonsense_Mutation_p.R311*	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	311	Pentaxin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TTATAACTTTCGACTTTGGAA	0.383													T	142691792	C	T	142691792	4	4	104	1	0	0	0	0	0	1	0	0	6640	876	31	1	945	1	GPR126	6	142691792	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3127431	142691792	28423275	2873	69487											
HIVEP2	3097	broad.mit.edu	37	chr6	143082678	143082678	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attttttcatgtgtgctttaGatttcatatgcttcgttagg	8	5	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:143082678G>T	uc003qjd.2	-	8	6286	c.5543C>A	c.(5542-5544)TCT>TAT	p.S1848Y		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1848	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTGTGCTTTAGATTTCATATG	0.358													T	143082678	G	T	143082678	3	4	104	1	0	0	0	0	1	0	0	0	7187	942	33	5	1809	5	HIVEP2	6	143082678	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	390886	143082678	28032389	2874	69488											
PHACTR2	9749	broad.mit.edu	37	chr6	144086472	144086472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacttcatccacctcatctCgtcccaaagcttcaaaggag	5	16	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:144086472C>T	uc003qjq.3	+	6	866	c.736C>T	c.(736-738)CGT>TGT	p.R246C	PHACTR2_uc010khh.2_Missense_Mutation_p.R166C|PHACTR2_uc010khi.2_Missense_Mutation_p.R257C|PHACTR2_uc003qjr.3_Missense_Mutation_p.R177C	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	246							actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CACCTCATCTCGTCCCAAAGC	0.463													T	144086472	C	T	144086472	3	4	104	1	0	0	0	0	1	0	0	0	11810	884	31	1	808	1	PHACTR2	6	144086472	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1003794	144086472	27028595	2875	69489											
UTRN	7402	broad.mit.edu	37	chr6	144808711	144808711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctgttctgcgccacccgGcagataatcgcacccagatt	8	14	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:144808711G>A	uc003qkt.2	+	28	3942	c.3850G>A	c.(3850-3852)GCA>ACA	p.A1284T		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1284	Spectrin 9.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCGCCACCCGGCAGATAATCG	0.458													A	144808711	G	A	144808711	3	1	104	1	0	0	0	0	1	0	0	0	17100	1203	42	2	3960	2	UTRN	6	144808711	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	722239	144808711	26306356	2876	69490											
UTRN	7402	broad.mit.edu	37	chr6	144860536	144860536	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtttacctgaaagggataAaatttcagaaagcttaagga	10	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:144860536A>C	uc003qkt.2	+	44	6568	c.6476A>C	c.(6475-6477)AAA>ACA	p.K2159T		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2159					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAAAGGGATAAAATTTCAGAA	0.328													C	144860536	A	C	144860536	3	2	104	1	0	0	0	0	1	0	0	0	17100	14	1	5	6650	5	UTRN	6	144860536	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	51825	144860536	26254531	2877	69491											
UTRN	7402	broad.mit.edu	37	chr6	144869983	144869983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatcaataagaccgtttcccGaatgaaagtaggtgcatagt	10	7	1	2	rs150069642		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:144869983G>A	uc003qkt.2	+	46	6895	c.6803G>A	c.(6802-6804)CGA>CAA	p.R2268Q		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2268	Spectrin 15.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACCGTTTCCCGAATGAAAGTA	0.428													A	144869983	G	A	144869983	3	1	104	1	0	0	0	0	1	0	0	0	17100	1058	37	1	6985	1	UTRN	6	144869983	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	9447	144869983	26245084	2878	69492											
FBXO30	84085	broad.mit.edu	37	chr6	146126324	146126324	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acttccaaatctgatgtatcTactgctttatcttcctttgg	5	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:146126324T>G	uc003qla.2	-	2	1417	c.1218A>C	c.(1216-1218)GTA>GTC	p.V406V	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	406	F-box.						ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CTGATGTATCTACTGCTTTAT	0.403													G	146126324	T	G	146126324	2	3	104	1	0	0	0	0	0	0	0	1	5740	1509	53	5		5	FBXO30	6	146126324	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1256341	146126324	24988743	2879	69493											
SHPRH	257218	broad.mit.edu	37	chr6	146266673	146266673	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgttccgttgaacatcGtatctatatatagaactgac	6	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:146266673G>A	uc003qlf.2	-	8	1821	c.1422C>T	c.(1420-1422)TAC>TAT	p.Y474Y	SHPRH_uc003qld.2_Silent_p.Y474Y|SHPRH_uc003qle.2_Silent_p.Y474Y|SHPRH_uc003qlg.1_Silent_p.Y30Y|SHPRH_uc003qlj.1_Silent_p.Y363Y	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	474	H15.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GTTGAACATCGTATCTATATA	0.378													A	146266673	G	A	146266673	2	1	104	1	0	0	0	0	0	0	0	1	14291	1140	40	1		1	SHPRH	6	146266673	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	140349	146266673	24848394	2880	69494											
STXBP5	134957	broad.mit.edu	37	chr6	147680279	147680279	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgtaacaagcattgacaaaGaatcccgagaagcgatctcc	9	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:147680279G>T	uc003qlz.2	+	23	2526	c.2365G>T	c.(2365-2367)GAA>TAA	p.E789*	STXBP5_uc010khz.1_Nonsense_Mutation_p.E753*|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Nonsense_Mutation_p.E444*	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	789					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CATTGACAAAGAATCCCGAGA	0.433													T	147680279	G	T	147680279	4	4	104	1	0	0	0	0	0	1	0	0	15355	943	33	5	2455	5	STXBP5	6	147680279	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1413606	147680279	23434788	2881	69495											
STXBP5	134957	broad.mit.edu	37	chr6	147684753	147684753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaaaatattacagagacctCgtttgtgcttcgtggagata	10	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:147684753C>T	uc003qlz.2	+	24	2989	c.2828C>T	c.(2827-2829)TCG>TTG	p.S943L	STXBP5_uc010khz.1_Missense_Mutation_p.S907L|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.S598L	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	943	WD 13.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ACAGAGACCTCGTTTGTGCTT	0.388													T	147684753	C	T	147684753	3	4	104	1	0	0	0	0	1	0	0	0	15355	893	31	1	2922	1	STXBP5	6	147684753	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4474	147684753	23430314	2882	69496											
STXBP5	134957	broad.mit.edu	37	chr6	147703987	147703987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctggtggcattgaaggCgtaaaaggggcagcatctgg	17	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:147703987C>T	uc003qlz.2	+	27	3428	c.3267C>T	c.(3265-3267)GGC>GGT	p.G1089G	STXBP5_uc010khz.1_Silent_p.G1053G|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Silent_p.G744G	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	1089	v-SNARE coiled-coil homology.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GCATTGAAGGCGTAAAAGGGG	0.488													T	147703987	C	T	147703987	2	4	104	1	0	0	0	0	0	0	0	1	15355	755	27	1		1	STXBP5	6	147703987	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	19234	147703987	23411080	2883	69497											
SASH1	23328	broad.mit.edu	37	chr6	148865654	148865654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctccccagtcccgatgcGccatgcctgccagtgaaaag	10	17	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:148865654G>A	uc003qme.1	+	18	3523	c.3048G>A	c.(3046-3048)GCG>GCA	p.A1016A	SASH1_uc011eeb.1_Silent_p.A777A|SASH1_uc003qmf.1_Silent_p.A426A	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1016	Pro-rich.						protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GTCCCGATGCGCCATGCCTGC	0.672													A	148865654	G	A	148865654	2	1	104	1	0	0	0	0	0	0	0	1	13848	1074	38	1		1	SASH1	6	148865654	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1161667	148865654	22249413	2884	69498											
SUMO4	387082	broad.mit.edu	37	chr6	149721599	149721599	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attaatttgaaggtggcgggAcaggatggttctgtggtgca	16	4	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:149721599A>G	uc003qml.2	+	1	105	c.72A>G	c.(70-72)GGA>GGG	p.G24G	TAB2_uc011eec.1_Intron|TAB2_uc003qmj.2_Intron|TAB2_uc003qmk.3_Intron	NM_001002255	NP_001002255	Q6EEV6	SUMO4_HUMAN	SMT3 suppressor of mif two 3 homolog 4	24	Ubiquitin-like.										0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;7.91e-12)|GBM - Glioblastoma multiforme(68;0.0282)		AGGTGGCGGGACAGGATGGTT	0.463													G	149721599	A	G	149721599	2	3	104	1	0	0	0	0	0	0	0	1	15387	262	10	3		3	SUMO4	6	149721599	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	855945	149721599	21393468	2885	69499											
PPIL4	85313	broad.mit.edu	37	chr6	149862082	149862082	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttactcatttcctaacctgaGatccatgttgatcactgcca	5	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:149862082G>A	uc003qmo.1	-	4	347	c.317C>T	c.(316-318)TCT>TTT	p.S106F	PPIL4_uc010kic.2_RNA|PPIL4_uc003qmp.1_Missense_Mutation_p.S106F	NM_139126	NP_624311	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase-like 4	106	PPIase cyclophilin-type.				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		CCTAACCTGAGATCCATGTTG	0.393													A	149862082	G	A	149862082	3	1	104	1	0	0	0	0	1	0	0	0	12329	942	33	4	1201	4	PPIL4	6	149862082	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	140483	149862082	21252985	2886	69500											
KATNA1	11104	broad.mit.edu	37	chr6	149954037	149954037	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatgtttagcttccacatTtatttcctgccaaacctgat	4	11	0	1	rs146991684		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:149954037T>G	uc003qmr.1	-	2	223	c.178A>C	c.(178-180)AAT>CAT	p.N60H	KATNA1_uc003qms.2_Missense_Mutation_p.N60H|KATNA1_uc003qmt.2_Missense_Mutation_p.N60H|KATNA1_uc011eed.1_Missense_Mutation_p.N60H	NM_007044	NP_008975	O75449	KTNA1_HUMAN	katanin p60 subunit A 1	60	Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			skin(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		GCTTCCACATTTATTTCCTGC	0.363													G	149954037	T	G	149954037	3	3	104	1	0	0	0	0	1	0	0	0	7984	1841	64	5	1333	5	KATNA1	6	149954037	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	91955	149954037	21161030	2887	69501											
LATS1	9113	broad.mit.edu	37	chr6	149983146	149983146	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggatcaacaggatcaaaatTtgatgtatctgttgggtgtg	12	4	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:149983146T>G	uc003qmu.1	-	8	3660	c.3112A>C	c.(3112-3114)AAT>CAT	p.N1038H	LATS1_uc010kif.1_Missense_Mutation_p.N933H	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	1038	AGC-kinase C-terminal.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GGATCAAAATTTGATGTATCT	0.358													G	149983146	T	G	149983146	3	3	104	1	0	0	0	0	1	0	0	0	8646	1841	64	5	284	5	LATS1	6	149983146	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	29109	149983146	21131921	2888	69502											
LATS1	9113	broad.mit.edu	37	chr6	149983213	149983213	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgctgtctcaggtcactggaGaagtcaattgttttaaaaaa	9	6	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:149983213G>T	uc003qmu.1	-	8	3593	c.3045C>A	c.(3043-3045)TTC>TTA	p.F1015L	LATS1_uc010kif.1_Missense_Mutation_p.F910L	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	1015	AGC-kinase C-terminal.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GGTCACTGGAGAAGTCAATTG	0.378													T	149983213	G	T	149983213	3	4	104	1	0	0	0	0	1	0	0	0	8646	933	33	5	351	5	LATS1	6	149983213	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	67	149983213	21131854	2889	69503											
PLEKHG1	57480	broad.mit.edu	37	chr6	151161391	151161391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtcggaaagggatcagcGctaaatctcagccttatcac	11	10	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:151161391G>A	uc003qny.1	+	17	3829	c.3517G>A	c.(3517-3519)GCT>ACT	p.A1173T	PLEKHG1_uc011eem.1_Missense_Mutation_p.A1232T	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	1173					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AGGGATCAGCGCTAAATCTCA	0.488													A	151161391	G	A	151161391	3	1	104	1	0	0	0	0	1	0	0	0	12068	1087	38	1	3575	1	PLEKHG1	6	151161391	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1178178	151161391	19953676	2890	69504											
MTHFD1L	25902	broad.mit.edu	37	chr6	151239797	151239797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctccttgctgcagctctgcGaattcaggtttgttcaacat	8	11	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:151239797G>A	uc003qob.2	+	9	1245	c.977G>A	c.(976-978)CGA>CAA	p.R326Q	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Missense_Mutation_p.R327Q|MTHFD1L_uc003qoc.2_Missense_Mutation_p.R274Q	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	326	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GCAGCTCTGCGAATTCAGGTT	0.408													A	151239797	G	A	151239797	3	1	104	1	0	0	0	0	1	0	0	0	9928	1058	37	1	1011	1	MTHFD1L	6	151239797	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	78406	151239797	19875270	2891	69505											
AKAP12	9590	broad.mit.edu	37	chr6	151672532	151672532	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgaagagaccacagaaatGgtgtcagcagtctcccagtt	11	10	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:151672532G>T	uc011eep.1	+	4	3246	c.3006G>T	c.(3004-3006)ATG>ATT	p.M1002I	AKAP12_uc003qoe.2_Missense_Mutation_p.M1002I|AKAP12_uc003qof.2_Missense_Mutation_p.M904I|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.M897I	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	1002					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CCACAGAAATGGTGTCAGCAG	0.572													T	151672532	G	T	151672532	3	4	104	1	0	0	0	0	1	0	0	0	448	1348	47	5	3045	5	AKAP12	6	151672532	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	432735	151672532	19442535	2892	69506											
C6orf97	80129	broad.mit.edu	37	chr6	151865837	151865837	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgacaaggcatcagatgaaGatttaattttaaaggtgtct	9	4	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:151865837G>A	uc003qol.2	+	4	663	c.574G>A	c.(574-576)GAT>AAT	p.D192N		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	192	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		ATCAGATGAAGATTTAATTTT	0.378													A	151865837	G	A	151865837	3	1	104	1	0	0	0	0	1	0	0	0	2374	942	33	4	588	4	C6orf97	6	151865837	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	193305	151865837	19249230	2893	69507											
C6orf97	80129	broad.mit.edu	37	chr6	151894465	151894465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttggagaagagtttgaagGccagtcaggatgcagtcaca	14	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:151894465G>A	uc003qol.2	+	6	1020	c.931G>A	c.(931-933)GCC>ACC	p.A311T		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	311											0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		GAGTTTGAAGGCCAGTCAGGA	0.522													A	151894465	G	A	151894465	3	1	104	1	0	0	0	0	1	0	0	0	2374	1203	42	2	953	2	C6orf97	6	151894465	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	28628	151894465	19220602	2894	69508											
SYNE1	23345	broad.mit.edu	37	chr6	152576134	152576134	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agtatcttcaataacatctcGattatcaccattctctggaa	4	10	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:152576134G>C	uc010kiw.2	-	104	19953	c.19351C>G	c.(19351-19353)CGA>GGA	p.R6451G	SYNE1_uc010kiv.2_Missense_Mutation_p.R975G|SYNE1_uc003qos.3_Missense_Mutation_p.R975G|SYNE1_uc003qot.3_Missense_Mutation_p.R6380G|SYNE1_uc003qou.3_Missense_Mutation_p.R6451G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6451	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)		ATAACATCTCGATTATCACCA	0.373										HNSCC(10;0.0054)			C	152576134	G	C	152576134	3	2	104	1	0	0	0	0	1	0	0	0	15442	1066	37	5	7287	5	SYNE1	6	152576134	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	681669	152576134	18538933	2895	69509											
SYNE1	23345	broad.mit.edu	37	chr6	152631869	152631869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacgaattttgatcatctgtCgcaactcctcagtctcccgt	6	13	4	1	rs141550859	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:152631869C>T	uc010kiw.2	-	88	17452	c.16850G>A	c.(16849-16851)CGA>CAA	p.R5617Q	SYNE1_uc010kiv.2_Missense_Mutation_p.R141Q|SYNE1_uc003qos.3_Missense_Mutation_p.R141Q|SYNE1_uc003qot.3_Missense_Mutation_p.R5546Q|SYNE1_uc003qou.3_Missense_Mutation_p.R5617Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5617	Spectrin 17.|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)		GATCATCTGTCGCAACTCCTC	0.363										HNSCC(10;0.0054)			T	152631869	C	T	152631869	3	4	104	1	0	0	0	0	1	0	0	0	15442	884	31	1	9852	1	SYNE1	6	152631869	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	55735	152631869	18483198	2896	69510											
SYNE1	23345	broad.mit.edu	37	chr6	152725425	152725425	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgcagttcttccaatcTcaatgctttgtttttaactt	6	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:152725425T>G	uc010kiw.2	-	46	7350	c.6748A>C	c.(6748-6750)AGA>CGA	p.R2250R	SYNE1_uc003qot.3_Silent_p.R2257R|SYNE1_uc003qou.3_Silent_p.R2250R|SYNE1_uc010kjb.1_Silent_p.R2233R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2250	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)		TCTTCCAATCTCAATGCTTTG	0.323										HNSCC(10;0.0054)			G	152725425	T	G	152725425	2	3	104	1	0	0	0	0	0	0	0	1	15442	1559	54	5		5	SYNE1	6	152725425	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	93556	152725425	18389642	2897	69511											
SYNE1	23345	broad.mit.edu	37	chr6	152792886	152792886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgtagctctgatgtggagGaaacaaaatgaaacctagaa	12	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:152792886G>A	uc010kiw.2	-	16	2080	c.1478C>T	c.(1477-1479)TCC>TTC	p.S493F	SYNE1_uc003qot.3_Missense_Mutation_p.S500F|SYNE1_uc003qou.3_Missense_Mutation_p.S493F|SYNE1_uc010kjb.1_Missense_Mutation_p.S476F|SYNE1_uc003qpa.1_Missense_Mutation_p.S493F|SYNE1_uc003qox.1_Missense_Mutation_p.S9F|SYNE1_uc003qoz.2_Intron|SYNE1_uc003qoy.2_Missense_Mutation_p.S60F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	493	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)		TGATGTGGAGGAAACAAAATG	0.363										HNSCC(10;0.0054)			A	152792886	G	A	152792886	3	1	104	1	0	0	0	0	1	0	0	0	15442	1174	41	4	25512	4	SYNE1	6	152792886	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	67461	152792886	18322181	2898	69512											
SYNE1	23345	broad.mit.edu	37	chr6	152826458	152826458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaattccggtcgaatgGcatgaataactgaatgaaag	9	9	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:152826458G>A	uc010kiw.2	-	9	1258	c.656C>T	c.(655-657)GCC>GTC	p.A219V	SYNE1_uc003qot.3_Missense_Mutation_p.A226V|SYNE1_uc003qou.3_Missense_Mutation_p.A219V|SYNE1_uc010kjb.1_Missense_Mutation_p.A219V|SYNE1_uc003qpa.1_Missense_Mutation_p.A219V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	219	Actin-binding.|CH 2.|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)		CGGTCGAATGGCATGAATAAC	0.428										HNSCC(10;0.0054)			A	152826458	G	A	152826458	3	1	104	1	0	0	0	0	1	0	0	0	15442	1203	42	2	26362	2	SYNE1	6	152826458	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	33572	152826458	18288609	2899	69513											
TFB1M	51106	broad.mit.edu	37	chr6	155578994	155578994	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctgtaattctctgcgtcAtcctcttctttttcttcatt	4	11	7	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:155578994A>C	uc003qqj.3	-	7	1081	c.1017T>G	c.(1015-1017)GAT>GAG	p.D339E	TFB1M_uc003qqk.2_RNA|uc003qqi.1_5'Flank	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			skin(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		TCTCTGCGTCATCCTCTTCTT	0.413													C	155578994	A	C	155578994	3	2	104	1	0	0	0	0	1	0	0	0	15790	214	8	5	27	5	TFB1M	6	155578994	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2752536	155578994	15536073	2900	69514											
FNDC1	84624	broad.mit.edu	37	chr6	159653106	159653106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctaatggtggggcgccccGaaaaccccagcttcgcgcca	13	15	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:159653106G>A	uc010kjv.2	+	11	1762	c.1562G>A	c.(1561-1563)CGA>CAA	p.R521Q	FNDC1_uc010kjw.1_Missense_Mutation_p.R406Q	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	521						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGGGCGCCCCGAAAACCCCAG	0.567													A	159653106	G	A	159653106	3	1	104	1	0	0	0	0	1	0	0	0	5968	1058	37	1	1604	1	FNDC1	6	159653106	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4074112	159653106	11461961	2901	69515											
FNDC1	84624	broad.mit.edu	37	chr6	159653414	159653414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcctctcctgcccaccacGcgtccacccagggcacctct	8	22	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:159653414G>A	uc010kjv.2	+	11	2070	c.1870G>A	c.(1870-1872)GCG>ACG	p.A624T	FNDC1_uc010kjw.1_Missense_Mutation_p.A509T	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	624						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGCCCACCACGCGTCCACCCA	0.667													A	159653414	G	A	159653414	3	1	104	1	0	0	0	0	1	0	0	0	5968	1087	38	1	1912	1	FNDC1	6	159653414	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	308	159653414	11461653	2902	69516											
TCP1	6950	broad.mit.edu	37	chr6	160200773	160200773	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctagtgtattgggaataAcaagaagtgatcttgcaaac	10	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:160200773A>G	uc003qsr.2	-	11	1575	c.1340T>C	c.(1339-1341)GTT>GCT	p.V447A	TCP1_uc003qss.2_Missense_Mutation_p.V292A|TCP1_uc010kjz.2_Intron|TCP1_uc003qst.2_Missense_Mutation_p.V223A	NM_030752	NP_110379	P17987	TCPA_HUMAN	T-complex protein 1 isoform a	447					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		ATTGGGAATAACAAGAAGTGA	0.418													G	160200773	A	G	160200773	3	3	104	1	0	0	0	0	1	0	0	0	15706	43	2	3	338	3	TCP1	6	160200773	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	547359	160200773	10914294	2903	69517											
LPA	4018	broad.mit.edu	37	chr6	161015117	161015117	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccatcaccatggtagcAatcctggaccccggggcttt	10	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:161015117A>G	uc003qtl.2	-	23	3622	c.3502T>C	c.(3502-3504)TGC>CGC	p.C1168R		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3676	Kringle 33.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CCATGGTAGCAATCCTGGACC	0.473													G	161015117	A	G	161015117	3	3	104	1	0	0	0	0	1	0	0	0	8903	130	5	3	2692	3	LPA	6	161015117	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	814344	161015117	10099950	2904	69518											
PLG	5340	broad.mit.edu	37	chr6	161160158	161160158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacaccaagaagtgaatctcGaaccgcatgttcaggaaata	8	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:161160158G>A	uc003qtm.3	+	16	1999	c.1936G>A	c.(1936-1938)GAA>AAA	p.E646K		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	646	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGTGAATCTCGAACCGCATGT	0.488													A	161160158	G	A	161160158	3	1	104	1	0	0	0	0	1	0	0	0	12086	1059	37	1	2002	1	PLG	6	161160158	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	145041	161160158	9954909	2905	69519											
MAP3K4	4216	broad.mit.edu	37	chr6	161470677	161470677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggagttggaaagtagtaCggatgagagtgaagaagaac	15	2	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:161470677C>T	uc003qtn.2	+	3	1515	c.1373C>T	c.(1372-1374)ACG>ATG	p.T458M	MAP3K4_uc010kkc.1_Missense_Mutation_p.T458M|MAP3K4_uc003qto.2_Missense_Mutation_p.T458M|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Translation_Start_Site	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	458					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GAAAGTAGTACGGATGAGAGT	0.478													T	161470677	C	T	161470677	3	4	104	1	0	0	0	0	1	0	0	0	9252	536	19	1	1383	1	MAP3K4	6	161470677	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	310519	161470677	9644390	2906	69520											
MAP3K4	4216	broad.mit.edu	37	chr6	161513055	161513055	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttacagtatcataaagaagTtgttcgtttgatgtctgggg	11	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:161513055T>G	uc003qtn.2	+	13	3291	c.3149T>G	c.(3148-3150)GTT>GGT	p.V1050G	MAP3K4_uc010kkc.1_Missense_Mutation_p.V1050G|MAP3K4_uc003qto.2_Missense_Mutation_p.V1050G|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.V503G|MAP3K4_uc003qtp.2_Missense_Mutation_p.V40G	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1050					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CATAAAGAAGTTGTTCGTTTG	0.328													G	161513055	T	G	161513055	3	3	104	1	0	0	0	0	1	0	0	0	9252	1725	60	5	3199	5	MAP3K4	6	161513055	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	42378	161513055	9602012	2907	69521											
C6orf118	168090	broad.mit.edu	37	chr6	165713944	165713944	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcagtctgttgaactgcTgggggctgcacgtgcaaatt	14	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:165713944T>G	uc003qum.3	-	3	821	c.785A>C	c.(784-786)CAG>CCG	p.Q262P	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	262											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GTTGAACTGCTGGGGGCTGCA	0.423													G	165713944	T	G	165713944	3	3	104	1	0	0	0	0	1	0	0	0	2323	1580	55	5	652	5	C6orf118	6	165713944	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	4200889	165713944	5401123	2908	69522											
KIF25	3834	broad.mit.edu	37	chr6	168440763	168440763	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggctgtcggcagcgcctcGaaactgatggagctcgttca	14	11	1	1	rs146483835		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:168440763G>A	uc003qwk.1	+	6	775	c.513G>A	c.(511-513)TCG>TCA	p.S171S	KIF25_uc003qwl.1_Silent_p.S171S	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	kinesin family member 25 isoform 1	171	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(1)|pancreas(1)	2		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCAGCGCCTCGAAACTGATGG	0.607													A	168440763	G	A	168440763	2	1	104	1	0	0	0	0	0	0	0	1	8293	1045	37	1		1	KIF25	6	168440763	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2726819	168440763	2674304	2909	69523											
DLL1	28514	broad.mit.edu	37	chr6	170592125	170592125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcggatatgacgtacaccGactggtacttggtgtctttt	10	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr6:170592125G>A	uc003qxm.2	-	10	2587	c.2117C>T	c.(2116-2118)TCG>TTG	p.S706L		NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	706	Cytoplasmic (Potential).				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GACGTACACCGACTGGTACTT	0.502													A	170592125	G	A	170592125	3	1	104	1	0	0	0	0	1	0	0	0	4566	1059	37	1	62	1	DLL1	6	170592125	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2151362	170592125	522942	2910	69524											
INTS1	26173	broad.mit.edu	37	chr7	1511249	1511249	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctccgccgggacatctcGtctatgtcactcagaacctc	9	15	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:1511249G>A	uc003skn.2	-	45	6314	c.6213C>T	c.(6211-6213)GAC>GAT	p.D2071D	INTS1_uc003skm.1_Silent_p.D208D	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	2071					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGGACATCTCGTCTATGTCAC	0.632													A	1511249	G	A	1511249	2	1	104	1	0	0	0	0	0	0	0	1	7775	1136	40	1		1	INTS1	7	1511249	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08		1511249	157627414	2911	69525											
EIF3B	8662	broad.mit.edu	37	chr7	2406181	2406181	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggagccatgatggcaaattCtttgccagaatgaccctgga	11	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:2406181C>A	uc003slx.2	+	8	1394	c.1311C>A	c.(1309-1311)TTC>TTA	p.F437L	EIF3B_uc003sly.2_Missense_Mutation_p.F437L|EIF3B_uc003sma.2_Missense_Mutation_p.F165L	NM_003751	NP_003742	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3,	437	WD 3.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity				0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		ATGGCAAATTCTTTGCCAGAA	0.483													A	2406181	C	A	2406181	3	1	104	1	0	0	0	0	1	0	0	0	5013	912	32	5	1341	5	EIF3B	7	2406181	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	894932	2406181	156732482	2912	69526											
EIF3B	8662	broad.mit.edu	37	chr7	2414218	2414218	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggagcccccaaggacagttCgtggtgttggcgggcctgag	17	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:2414218C>T	uc003slx.2	+	13	1949	c.1866C>T	c.(1864-1866)TTC>TTT	p.F622F	EIF3B_uc003sly.2_Silent_p.F622F|EIF3B_uc003sma.2_Silent_p.F350F|EIF3B_uc003smb.2_5'Flank	NM_003751	NP_003742	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3,	622					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity				0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		AAGGACAGTTCGTGGTGTTGG	0.627													T	2414218	C	T	2414218	2	4	104	1	0	0	0	0	0	0	0	1	5013	883	31	1		1	EIF3B	7	2414218	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	8037	2414218	156724445	2913	69527											
CARD11	84433	broad.mit.edu	37	chr7	2946428	2946428	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccttctccttcagccgGcacacgcgcaggaactcctc	8	18	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:2946428G>A	uc003smv.2	-	25	3713	c.3309C>T	c.(3307-3309)TGC>TGT	p.C1103C		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1103	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCTTCAGCCGGCACACGCGCA	0.672			Mis		DLBCL								A	2946428	G	A	2946428	2	1	104	1	0	0	0	0	0	0	0	1	2645	1195	42	2		2	CARD11	7	2946428	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	532210	2946428	156192235	2914	69528											
CARD11	84433	broad.mit.edu	37	chr7	2951926	2951926	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaactcatctcttgtgacGatatctgcagagagaggggc	13	8	3	3	rs148497800	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:2951926G>A	uc003smv.2	-	23	3428	c.3024C>T	c.(3022-3024)ATC>ATT	p.I1008I		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1008	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTCTTGTGACGATATCTGCAG	0.582			Mis		DLBCL								A	2951926	G	A	2951926	2	1	104	1	0	0	0	0	0	0	0	1	2645	1048	37	1		1	CARD11	7	2951926	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5498	2951926	156186737	2915	69529											
CARD11	84433	broad.mit.edu	37	chr7	2974176	2974176	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactcctccgaggtggaagAatcgtcagcttcttgaccat	10	11	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:2974176A>C	uc003smv.2	-	10	1833	c.1429T>G	c.(1429-1431)TCT>GCT	p.S477A		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	477					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GAGGTGGAAGAATCGTCAGCT	0.577			Mis		DLBCL								C	2974176	A	C	2974176	3	2	104	1	0	0	0	0	1	0	0	0	2645	246	9	5	2099	5	CARD11	7	2974176	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	22250	2974176	156164487	2916	69530											
SDK1	221935	broad.mit.edu	37	chr7	3678674	3678674	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagaagctcgatgctgggtTttaccgctgcgtggtgcgaa	15	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:3678674T>G	uc003smx.2	+	3	636	c.497T>G	c.(496-498)TTT>TGT	p.F166C		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	166	Ig-like C2-type 1.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GATGCTGGGTTTTACCGCTGC	0.408													G	3678674	T	G	3678674	3	3	104	1	0	0	0	0	1	0	0	0	13968	1841	64	5	507	5	SDK1	7	3678674	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	704498	3678674	155459989	2917	69531											
SDK1	221935	broad.mit.edu	37	chr7	3681706	3681706	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcaagtgacttggtttagaGaagggcacaagattattcca	10	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:3681706G>T	uc003smx.2	+	4	821	c.682G>T	c.(682-684)GAA>TAA	p.E228*		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	228	Ig-like C2-type 2.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TTGGTTTAGAGAAGGGCACAA	0.453													T	3681706	G	T	3681706	4	4	104	1	0	0	0	0	0	1	0	0	13968	943	33	5	696	5	SDK1	7	3681706	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3032	3681706	155456957	2918	69532											
SDK1	221935	broad.mit.edu	37	chr7	4116768	4116768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacgtggccgctgtgactgCcgtgggcactggcctggtga	17	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:4116768C>T	uc003smx.2	+	21	3288	c.3149C>T	c.(3148-3150)GCC>GTC	p.A1050V	SDK1_uc010kso.2_Missense_Mutation_p.A326V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1050	Fibronectin type-III 4.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCTGTGACTGCCGTGGGCACT	0.577													T	4116768	C	T	4116768	3	4	104	1	0	0	0	0	1	0	0	0	13968	739	26	2	3231	2	SDK1	7	4116768	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	435062	4116768	155021895	2919	69533											
TNRC18	84629	broad.mit.edu	37	chr7	5372633	5372633	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccccgcaggcgaccgctTgcgcaccttgacctcgctct	10	19	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:5372633T>C	uc003soi.3	-	19	6116	c.5767A>G	c.(5767-5769)AAG>GAG	p.K1923E		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1923							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGCGACCGCTTGCGCACCTTG	0.721													C	5372633	T	C	5372633	3	2	104	1	0	0	0	0	1	0	0	0	16336	1821	63	3	3187	3	TNRC18	7	5372633	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1255865	5372633	153766030	2920	69534											
TNRC18	84629	broad.mit.edu	37	chr7	5410840	5410840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caagcggatgggcttgtcttCgggtgagagtgccaggcgct	17	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:5410840C>T	uc003soi.3	-	11	3734	c.3385G>A	c.(3385-3387)GAA>AAA	p.E1129K		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1129	Pro-rich.						DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGCTTGTCTTCGGGTGAGAGT	0.701													T	5410840	C	T	5410840	3	4	104	1	0	0	0	0	1	0	0	0	16336	893	31	1	5601	1	TNRC18	7	5410840	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	38207	5410840	153727823	2921	69535											
TNRC18	84629	broad.mit.edu	37	chr7	5415827	5415827	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagggcgggccagaggggCggtacggtggcccgctccat	18	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:5415827C>T	uc003soi.3	-	9	2986	c.2637G>A	c.(2635-2637)CCG>CCA	p.P879P		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	879							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCCAGAGGGGCGGTACGGTGG	0.692													T	5415827	C	T	5415827	2	4	104	1	0	0	0	0	0	0	0	1	16336	755	27	1		1	TNRC18	7	5415827	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4987	5415827	153722836	2922	69536											
RNF216	54476	broad.mit.edu	37	chr7	5662563	5662563	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggggcatgtggatgggaccGaagtcatagttgacccgcac	15	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:5662563G>A	uc003soy.1	-	17	2719	c.2529C>T	c.(2527-2529)TTC>TTT	p.F843F	RNF216_uc010ksz.1_Silent_p.F465F|RNF216_uc010kta.1_Silent_p.F465F|RNF216_uc011jwj.1_Silent_p.F465F|RNF216_uc003sox.1_Silent_p.F900F	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	843	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GGATGGGACCGAAGTCATAGT	0.627													A	5662563	G	A	5662563	2	1	104	1	0	0	0	0	0	0	0	1	13480	1049	37	1		1	RNF216	7	5662563	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	246736	5662563	153476100	2923	69537											
RNF216	54476	broad.mit.edu	37	chr7	5780605	5780605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgataaaataaaacttaccGtttctttcactagtagttca	4	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:5780605G>A	uc003soy.1	-	4	1062	c.872C>T	c.(871-873)ACG>ATG	p.T291M	RNF216_uc010ksz.1_Translation_Start_Site|RNF216_uc010kta.1_Intron|RNF216_uc011jwj.1_Intron|RNF216_uc003sox.1_Missense_Mutation_p.T348M	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	291					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AAAACTTACCGTTTCTTTCAC	0.343													A	5780605	G	A	5780605	3	1	104	1	0	0	0	0	1	0	0	0	13480	1159	40	1	1784	1	RNF216	7	5780605	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	118042	5780605	153358058	2924	69538											
RNF216	54476	broad.mit.edu	37	chr7	5792512	5792512	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcatcatccaggtcctcttCttcatgctgctgaggagctg	9	12	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:5792512C>T	uc003soy.1	-	3	356	c.166G>A	c.(166-168)GAA>AAA	p.E56K	RNF216_uc010ksz.1_5'UTR|RNF216_uc010kta.1_5'UTR|RNF216_uc011jwj.1_Intron|RNF216_uc003sox.1_Missense_Mutation_p.E56K	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	56					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AGGTCCTCTTCTTCATGCTGC	0.453													T	5792512	C	T	5792512	3	4	104	1	0	0	0	0	1	0	0	0	13480	922	32	4	2665	4	RNF216	7	5792512	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	11907	5792512	153346151	2925	69539											
ZNF12	7559	broad.mit.edu	37	chr7	6731035	6731035	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttttactcctgaatgagttCtatgatggatagtgaggtat	11	4	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:6731035C>A	uc003sqt.1	-	5	2092	c.1538G>T	c.(1537-1539)AGA>ATA	p.R513I	ZNF12_uc011jxa.1_Missense_Mutation_p.R351I|ZNF12_uc003sqs.1_Missense_Mutation_p.R475I	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	513	C2H2-type 9.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TGAATGAGTTCTATGATGGAT	0.418													A	6731035	C	A	6731035	3	1	104	1	0	0	0	0	1	0	0	0	17715	913	32	5	559	5	ZNF12	7	6731035	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	938523	6731035	152407628	2926	69540											
RSPH10B2	728194	broad.mit.edu	37	chr7	6805365	6805365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttattacaatcaagagggtaCgtgttggtacgagggagact	13	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:6805365C>T	uc003sqw.1	+	7	873	c.602C>T	c.(601-603)ACG>ATG	p.T201M	RSPH10B2_uc010ktk.1_Missense_Mutation_p.T201M|RSPH10B2_uc011jxc.1_Intron|RSPH10B2_uc010ktl.1_RNA	NM_173565	NP_775836	B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B	201	MORN 5.									ovary(1)|pancreas(1)|skin(1)	3						CAAGAGGGTACGTGTTGGTAC	0.423													T	6805365	C	T	6805365	3	4	104	1	0	0	0	0	1	0	0	0	13704	536	19	1	3309	1	RSPH10B2	7	6805365	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	74330	6805365	152333298	2927	69541											
C1GALT1	56913	broad.mit.edu	37	chr7	7278086	7278086	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgaaaaccaaagaaggcagaGatcaactatactggaaaaca	8	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:7278086G>T	uc010ktn.2	+	3	644	c.421G>T	c.(421-423)GAT>TAT	p.D141Y	C1GALT1_uc003sra.2_Missense_Mutation_p.D141Y|C1GALT1_uc010kto.1_Missense_Mutation_p.D141Y	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN	core 1 synthase,	141	Lumenal (Potential).				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		AGAAGGCAGAGATCAACTATA	0.373													T	7278086	G	T	7278086	3	4	104	1	0	0	0	0	1	0	0	0	1952	942	33	5	427	5	C1GALT1	7	7278086	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	472721	7278086	151860577	2928	69542											
C1GALT1	56913	broad.mit.edu	37	chr7	7278461	7278461	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ataccattggaaaagaaactTttcatccctttgtgccagaa	6	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:7278461T>A	uc010ktn.2	+	3	1019	c.796T>A	c.(796-798)TTT>ATT	p.F266I	C1GALT1_uc003sra.2_Missense_Mutation_p.F266I|C1GALT1_uc010kto.1_Missense_Mutation_p.F266I	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN	core 1 synthase,	266	Lumenal (Potential).				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		AAAAGAAACTTTTCATCCCTT	0.378													A	7278461	T	A	7278461	3	1	104	1	0	0	0	0	1	0	0	0	1952	1841	64	5	802	5	C1GALT1	7	7278461	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	375	7278461	151860202	2929	69543											
COL28A1	340267	broad.mit.edu	37	chr7	7493131	7493131	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtggaccaataggaccTtggattccctttaaaataaa	8	9	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:7493131T>G	uc003src.1	-	17	1497	c.1380A>C	c.(1378-1380)CAA>CAC	p.Q460H	COL28A1_uc011jxe.1_Missense_Mutation_p.Q143H|COL28A1_uc003srd.2_Missense_Mutation_p.Q15H	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	460					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CAATAGGACCTTGGATTCCCt	0.373													G	7493131	T	G	7493131	3	3	104	1	0	0	0	0	1	0	0	0	3686	1606	56	5	2073	5	COL28A1	7	7493131	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	214670	7493131	151645532	2930	69544											
PHF14	9678	broad.mit.edu	37	chr7	11076293	11076293	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcaaccagctctcactgcAgattttgtgaattattattt	6	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:11076293A>C	uc003sry.1	+	9	2286	c.1851A>C	c.(1849-1851)GCA>GCC	p.A617A	PHF14_uc011jxi.1_Silent_p.A332A|PHF14_uc003srz.2_Silent_p.A617A|PHF14_uc011jxj.1_Silent_p.A332A	NM_014660	NP_055475	O94880	PHF14_HUMAN	PHD finger protein 14 isoform 2	617							zinc ion binding			kidney(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		CTCTCACTGCAGATTTTGTGA	0.348													C	11076293	A	C	11076293	2	2	104	1	0	0	0	0	0	0	0	1	11825	175	7	5		5	PHF14	7	11076293	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	3583162	11076293	148062370	2931	69545											
PHF14	9678	broad.mit.edu	37	chr7	11091326	11091326	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagatggaaccaaacgatcAaggaggcagattaaggaacc	11	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:11091326A>G	uc003sry.1	+	14	2835	c.2400A>G	c.(2398-2400)TCA>TCG	p.S800S	PHF14_uc011jxi.1_Silent_p.S515S|PHF14_uc003srz.2_Silent_p.S800S|PHF14_uc011jxj.1_Silent_p.S515S	NM_014660	NP_055475	O94880	PHF14_HUMAN	PHD finger protein 14 isoform 2	800							zinc ion binding			kidney(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		CCAAACGATCAAGGAGGCAGA	0.458													G	11091326	A	G	11091326	2	3	104	1	0	0	0	0	0	0	0	1	11825	117	5	3		3	PHF14	7	11091326	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	15033	11091326	148047337	2932	69546											
THSD7A	221981	broad.mit.edu	37	chr7	11446969	11446969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgagaacattctgaccaagGagaccaatcagaaagctgac	9	9	2	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:11446969G>A	uc003ssf.3	-	19	4132	c.3880C>T	c.(3880-3882)CCT>TCT	p.P1294S		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1294	Extracellular (Potential).|TSP type-1 13.					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCTGACCAAGGAGACCAATCA	0.438										HNSCC(18;0.044)			A	11446969	G	A	11446969	3	1	104	1	0	0	0	0	1	0	0	0	15876	1174	41	4	1129	4	THSD7A	7	11446969	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	355643	11446969	147691694	2933	69547											
THSD7A	221981	broad.mit.edu	37	chr7	11450874	11450874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caactgacttgccatcacttCgaacacaatccaacatcctt	3	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:11450874C>T	uc003ssf.3	-	18	4010	c.3758G>A	c.(3757-3759)CGA>CAA	p.R1253Q		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1253	TSP type-1 12.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCCATCACTTCGAACACAATC	0.403										HNSCC(18;0.044)			T	11450874	C	T	11450874	3	4	104	1	0	0	0	0	1	0	0	0	15876	884	31	1	1255	1	THSD7A	7	11450874	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3905	11450874	147687789	2934	69548											
THSD7A	221981	broad.mit.edu	37	chr7	11514155	11514155	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgctcattacagcttcgTacttcttgcaaagcactgct	8	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:11514155T>C	uc003ssf.3	-	8	2310	c.2058A>G	c.(2056-2058)GTA>GTG	p.V686V		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	686	TSP type-1 6.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TACAGCTTCGTACTTCTTGCA	0.463										HNSCC(18;0.044)			C	11514155	T	C	11514155	2	2	104	1	0	0	0	0	0	0	0	1	15876	1625	57	3		3	THSD7A	7	11514155	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	63281	11514155	147624508	2935	69549											
SCIN	85477	broad.mit.edu	37	chr7	12680065	12680065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatggaacatcaaagaaaGgaggtcaggcacctgctccc	11	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:12680065G>A	uc003ssn.3	+	11	1714	c.1504G>A	c.(1504-1506)GGA>AGA	p.G502R	SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Missense_Mutation_p.G255R	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN	scinderin isoform 1	502	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ATCAAAGAAAGGAGGTCAGGC	0.463													A	12680065	G	A	12680065	3	1	104	1	0	0	0	0	1	0	0	0	13905	1001	35	4	1546	4	SCIN	7	12680065	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1165910	12680065	146458598	2936	69550											
ETV1	2115	broad.mit.edu	37	chr7	13946202	13946202	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtccttcccgatacatTcctggctcttgtttgatgtc	10	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:13946202T>G	uc011jxq.1	-	12	1702	c.963A>C	c.(961-963)GGA>GGC	p.G321G	ETV1_uc011jxn.1_Silent_p.G281G|ETV1_uc011jxo.1_Silent_p.G218G|ETV1_uc011jxp.1_Silent_p.G263G|ETV1_uc003ssw.3_Silent_p.G298G|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Silent_p.G303G|ETV1_uc011jxs.1_Silent_p.G303G|ETV1_uc010ktv.2_Missense_Mutation_p.E190A	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1 isoform a	321					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						CCCGATACATTCCTGGCTCTT	0.363			T	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3	Ewing sarcoma|prostate								G	13946202	T	G	13946202	2	3	104	1	0	0	0	0	0	0	0	1	5277	1770	62	5		5	ETV1	7	13946202	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1266137	13946202	145192461	2937	69551											
ETV1	2115	broad.mit.edu	37	chr7	13971292	13971292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttggctcagacatctggcGttggtacataggacgtcctt	12	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:13971292G>A	uc011jxq.1	-	9	1376	c.637C>T	c.(637-639)CGC>TGC	p.R213C	ETV1_uc011jxn.1_Missense_Mutation_p.R173C|ETV1_uc011jxo.1_Missense_Mutation_p.R110C|ETV1_uc011jxp.1_Missense_Mutation_p.R155C|ETV1_uc003ssw.3_Missense_Mutation_p.R213C|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.R195C|ETV1_uc011jxs.1_Missense_Mutation_p.R195C|ETV1_uc010ktv.2_Missense_Mutation_p.R82C	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1 isoform a	213					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						GACATCTGGCGTTGGTACATA	0.532			T	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3	Ewing sarcoma|prostate								A	13971292	G	A	13971292	3	1	104	1	0	0	0	0	1	0	0	0	5277	1145	40	1	820	1	ETV1	7	13971292	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	25090	13971292	145167371	2938	69552											
ETV1	2115	broad.mit.edu	37	chr7	13971370	13971370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggttcagaaagctggcggcGaaatctagggaataagagag	16	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:13971370G>A	uc011jxq.1	-	9	1298	c.559C>T	c.(559-561)CGC>TGC	p.R187C	ETV1_uc011jxn.1_Missense_Mutation_p.R147C|ETV1_uc011jxo.1_Missense_Mutation_p.R84C|ETV1_uc011jxp.1_Missense_Mutation_p.R129C|ETV1_uc003ssw.3_Missense_Mutation_p.R187C|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.R169C|ETV1_uc011jxs.1_Missense_Mutation_p.R169C|ETV1_uc010ktv.2_Missense_Mutation_p.R56C	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1 isoform a	187					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						AGCTGGCGGCGAAATCTAGGG	0.448			T	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3	Ewing sarcoma|prostate								A	13971370	G	A	13971370	3	1	104	1	0	0	0	0	1	0	0	0	5277	1058	37	1	898	1	ETV1	7	13971370	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	78	13971370	145167293	2939	69553											
ETV1	2115	broad.mit.edu	37	chr7	14027729	14027729	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accttctgaatcatgagccaGatctctgttaatgaattttc	6	9	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:14027729G>T	uc011jxq.1	-	4	854	c.115C>A	c.(115-117)CTG>ATG	p.L39M	ETV1_uc011jxn.1_5'Flank|ETV1_uc011jxo.1_5'Flank|ETV1_uc011jxp.1_5'Flank|ETV1_uc003ssw.3_Missense_Mutation_p.L39M|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.L39M|ETV1_uc011jxs.1_Missense_Mutation_p.L39M|ETV1_uc010ktv.2_5'Flank	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1 isoform a	39				L -> V (in Ref. 2; CAA60642).	transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						TCATGAGCCAGATCTCTGTTA	0.388			T	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3	Ewing sarcoma|prostate								T	14027729	G	T	14027729	3	4	104	1	0	0	0	0	1	0	0	0	5277	933	33	5	1427	5	ETV1	7	14027729	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	56359	14027729	145110934	2940	69554											
DGKB	1607	broad.mit.edu	37	chr7	14613896	14613896	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cactgggtctcctttctcatCtttgtcattaggtatgactt	7	10	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:14613896C>A	uc003ssz.2	-	19	1901	c.1714G>T	c.(1714-1716)GAT>TAT	p.D572Y	DGKB_uc011jxt.1_Missense_Mutation_p.D553Y|DGKB_uc003sta.2_Missense_Mutation_p.D572Y|DGKB_uc011jxu.1_Missense_Mutation_p.D571Y	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	572					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)	CCTTTCTCATCTTTGTCATTA	0.368													A	14613896	C	A	14613896	3	1	104	1	0	0	0	0	1	0	0	0	4466	913	32	5	743	5	DGKB	7	14613896	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	586167	14613896	144524767	2941	69555											
DGKB	1607	broad.mit.edu	37	chr7	14741347	14741347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccatccgtgtcataaaggcGaaacataactagaatgaaag	8	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:14741347G>A	uc003ssz.2	-	6	662	c.475C>T	c.(475-477)CGC>TGC	p.R159C	DGKB_uc011jxt.1_Missense_Mutation_p.R152C|DGKB_uc003sta.2_Missense_Mutation_p.R159C|DGKB_uc011jxu.1_Missense_Mutation_p.R159C|DGKB_uc011jxv.1_Missense_Mutation_p.R159C	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	159	EF-hand 1.				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)	TCATAAAGGCGAAACATAACT	0.318													A	14741347	G	A	14741347	3	1	104	1	0	0	0	0	1	0	0	0	4466	1058	37	1	2034	1	DGKB	7	14741347	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	127451	14741347	144397316	2942	69556											
ISPD	729920	broad.mit.edu	37	chr7	16255710	16255710	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgggtaagatatgagaAgcccatataacaaaatattt	8	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:16255710A>C	uc010ktx.2	-	9	1232	c.1232T>G	c.(1231-1233)CTT>CGT	p.L411R	ISPD_uc010kty.2_Missense_Mutation_p.L361R|uc003stf.2_Intron	NM_001101426	NP_001094896	A4D126	ISPD_HUMAN	notch1-induced protein isoform a	411					isoprenoid biosynthetic process		nucleotidyltransferase activity			ovary(1)	1						AGATATGAGAAGCCCATATAA	0.328										Multiple Myeloma(15;0.18)			C	16255710	A	C	16255710	3	2	104	1	0	0	0	0	1	0	0	0	7864	72	3	5	131	5	ISPD	7	16255710	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1514363	16255710	142882953	2943	69557											
ISPD	729920	broad.mit.edu	37	chr7	16255773	16255773	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attctctaatctgcattaggTtttccattttctgactggga	7	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:16255773T>C	uc010ktx.2	-	9	1169	c.1169A>G	c.(1168-1170)AAC>AGC	p.N390S	ISPD_uc010kty.2_Missense_Mutation_p.N340S|uc003stf.2_Intron	NM_001101426	NP_001094896	A4D126	ISPD_HUMAN	notch1-induced protein isoform a	390					isoprenoid biosynthetic process		nucleotidyltransferase activity			ovary(1)	1						CTGCATTAGGTTTTCCATTTT	0.308										Multiple Myeloma(15;0.18)			C	16255773	T	C	16255773	3	2	104	1	0	0	0	0	1	0	0	0	7864	1725	60	3	194	3	ISPD	7	16255773	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	63	16255773	142882890	2944	69558											
SOSTDC1	25928	broad.mit.edu	37	chr7	16505131	16505131	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgaaatgcctgcctccatTtctggcttgattcaacgtgc	8	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:16505131T>G	uc003stg.2	-	1	344	c.163A>C	c.(163-165)AAT>CAT	p.N55H	SOSTDC1_uc003sth.2_Missense_Mutation_p.N55H	NM_015464	NP_056279	Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1 precursor	55					Wnt receptor signaling pathway					ovary(2)|central_nervous_system(1)	3	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		CTGCCTCCATTTCTGGCTTGA	0.408													G	16505131	T	G	16505131	3	3	104	1	0	0	0	0	1	0	0	0	14939	1841	64	5	465	5	SOSTDC1	7	16505131	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	249358	16505131	142633532	2945	69559											
ANKMY2	57037	broad.mit.edu	37	chr7	16650274	16650274	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catcttcatagccaatacttCattcatgtctctttgcttca	3	12	6	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:16650274C>A	uc003sti.2	-	6	846	c.646G>T	c.(646-648)GAA>TAA	p.E216*	ANKMY2_uc010ktz.2_RNA	NM_020319	NP_064715	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	216						cilium	zinc ion binding			central_nervous_system(1)	1	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GCCAATACTTCATTCATGTCT	0.358													A	16650274	C	A	16650274	4	1	104	1	0	0	0	0	0	1	0	0	635	835	29	5	699	5	ANKMY2	7	16650274	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	145143	16650274	142488389	2946	69560											
AHR	196	broad.mit.edu	37	chr7	17378642	17378642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacagagcatttacgaaaacGaaatacgaagttgcctttta	7	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:17378642G>A	uc011jxz.1	+	10	1806	c.1193G>A	c.(1192-1194)CGA>CAA	p.R398Q	AHR_uc003stt.3_RNA	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor precursor	398					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TTACGAAAACGAAATACGAAG	0.333													A	17378642	G	A	17378642	3	1	104	1	0	0	0	0	1	0	0	0	416	1058	37	1	1231	1	AHR	7	17378642	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	728368	17378642	141760021	2947	69561											
AHR	196	broad.mit.edu	37	chr7	17379187	17379187	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagacattgacttaacggatGaaatcctgacgtatgtccaa	9	8	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:17379187G>T	uc011jxz.1	+	10	2351	c.1738G>T	c.(1738-1740)GAA>TAA	p.E580*	AHR_uc003stt.3_RNA	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor precursor	580					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CTTAACGGATGAAATCCTGAC	0.383													T	17379187	G	T	17379187	4	4	104	1	0	0	0	0	0	1	0	0	416	1291	45	5	1776	5	AHR	7	17379187	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	545	17379187	141759476	2948	69562											
SNX13	23161	broad.mit.edu	37	chr7	17836501	17836501	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctactcttgttctcattcGaatacttttatctctgcatg	5	10	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:17836501G>A	uc003stw.1	-	25	2821	c.2608C>T	c.(2608-2610)CGA>TGA	p.R870*	SNX13_uc003stv.2_Nonsense_Mutation_p.R859*|SNX13_uc010kuc.2_Nonsense_Mutation_p.R656*|SNX13_uc010kub.2_Nonsense_Mutation_p.R265*			Q9Y5W8	SNX13_HUMAN	SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;	870					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			central_nervous_system(2)|kidney(1)	3	Lung NSC(10;0.0261)|all_lung(11;0.0521)					GTTCTCATTCGAATACTTTTA	0.328													A	17836501	G	A	17836501	4	1	104	1	0	0	0	0	0	1	0	0	14884	1066	37	1	306	1	SNX13	7	17836501	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	457314	17836501	141302162	2949	69563											
SNX13	23161	broad.mit.edu	37	chr7	17854462	17854462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtctgcttacttaccttgcGagcaaaatccccttttcctt	6	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:17854462G>A	uc003stw.1	-	20	2305	c.2092C>T	c.(2092-2094)CGC>TGC	p.R698C	SNX13_uc003stv.2_Missense_Mutation_p.R687C|SNX13_uc010kuc.2_Missense_Mutation_p.R484C|SNX13_uc010kub.2_Missense_Mutation_p.R93C			Q9Y5W8	SNX13_HUMAN	SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;	698					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			central_nervous_system(2)|kidney(1)	3	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CTTACCTTGCGAGCAAAATCC	0.388													A	17854462	G	A	17854462	3	1	104	1	0	0	0	0	1	0	0	0	14884	1058	37	1	842	1	SNX13	7	17854462	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	17961	17854462	141284201	2950	69564											
SNX13	23161	broad.mit.edu	37	chr7	17890483	17890483	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctagagatctaagatactgTaattcttctgctgccttatc	6	9	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:17890483T>C	uc003stw.1	-	10	1155	c.942A>G	c.(940-942)TTA>TTG	p.L314L	SNX13_uc003stv.2_Silent_p.L314L|SNX13_uc010kuc.2_Silent_p.L111L			Q9Y5W8	SNX13_HUMAN	SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;	314					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			central_nervous_system(2)|kidney(1)	3	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TAAGATACTGTAATTCTTCTG	0.303													C	17890483	T	C	17890483	2	2	104	1	0	0	0	0	0	0	0	1	14884	1635	57	3		3	SNX13	7	17890483	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	36021	17890483	141248180	2951	69565											
PRPS1L1	221823	broad.mit.edu	37	chr7	18066628	18066628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagcatgcagtgttgatgcGagaaatggctgggccagaaa	14	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:18066628G>A	uc003stz.2	-	1	859	c.778C>T	c.(778-780)CGC>TGC	p.R260C		NM_175886	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like	260					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			ovary(1)	1	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GTGTTGATGCGAGAAATGGCT	0.443													A	18066628	G	A	18066628	3	1	104	1	0	0	0	0	1	0	0	0	12579	1058	37	1	182	1	PRPS1L1	7	18066628	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	176145	18066628	141072035	2952	69566											
HDAC9	9734	broad.mit.edu	37	chr7	18687588	18687588	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgcagcatttattattgaaaGaacaaatgcgacagcaaaag	8	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:18687588G>T	uc003suh.2	+	9	1248	c.1207G>T	c.(1207-1209)GAA>TAA	p.E403*	HDAC9_uc003sue.2_Nonsense_Mutation_p.E403*|HDAC9_uc011jyd.1_Nonsense_Mutation_p.E403*|HDAC9_uc003sui.2_Nonsense_Mutation_p.E406*|HDAC9_uc003suj.2_Nonsense_Mutation_p.E362*|HDAC9_uc011jya.1_Nonsense_Mutation_p.E400*|HDAC9_uc003sua.1_Nonsense_Mutation_p.E381*|HDAC9_uc011jyb.1_Nonsense_Mutation_p.E359*|HDAC9_uc003sud.1_Nonsense_Mutation_p.E403*|HDAC9_uc011jyc.1_Nonsense_Mutation_p.E362*|HDAC9_uc003suf.1_Nonsense_Mutation_p.E434*|HDAC9_uc010kud.1_Nonsense_Mutation_p.E406*|HDAC9_uc011jye.1_Nonsense_Mutation_p.E375*|HDAC9_uc011jyf.1_Nonsense_Mutation_p.E326*|HDAC9_uc010kue.1_Nonsense_Mutation_p.E146*	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	403					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	ATTATTGAAAGAACAAATGCG	0.443													T	18687588	G	T	18687588	4	4	104	1	0	0	0	0	0	1	0	0	7014	943	33	5	1250	5	HDAC9	7	18687588	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	620960	18687588	140451075	2953	69567											
HDAC9	9734	broad.mit.edu	37	chr7	18688191	18688191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgtcacagacccctgaaccGaacccagtctgcacctttgc	7	18	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:18688191G>A	uc003suh.2	+	10	1384	c.1343G>A	c.(1342-1344)CGA>CAA	p.R448Q	HDAC9_uc003sue.2_Missense_Mutation_p.R448Q|HDAC9_uc011jyd.1_Missense_Mutation_p.R448Q|HDAC9_uc003sui.2_Missense_Mutation_p.R451Q|HDAC9_uc003suj.2_Missense_Mutation_p.R407Q|HDAC9_uc011jya.1_Missense_Mutation_p.R445Q|HDAC9_uc003sua.1_Missense_Mutation_p.R426Q|HDAC9_uc011jyb.1_Missense_Mutation_p.R404Q|HDAC9_uc003sud.1_Missense_Mutation_p.R448Q|HDAC9_uc011jyc.1_Missense_Mutation_p.R407Q|HDAC9_uc003suf.1_Missense_Mutation_p.R479Q|HDAC9_uc010kud.1_Missense_Mutation_p.R451Q|HDAC9_uc011jye.1_Missense_Mutation_p.R420Q|HDAC9_uc011jyf.1_Missense_Mutation_p.R371Q|HDAC9_uc010kue.1_Missense_Mutation_p.R191Q	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	448					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.P448P(1)		lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	CCCCTGAACCGAACCCAGTCT	0.517													A	18688191	G	A	18688191	3	1	104	1	0	0	0	0	1	0	0	0	7014	1058	37	1	1390	1	HDAC9	7	18688191	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	603	18688191	140450472	2954	69568											
HDAC9	9734	broad.mit.edu	37	chr7	18975448	18975448	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtaggttttggtcatttgacGaagcaattgatgacattggc	12	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:18975448G>A	uc003suh.2	+	22	2852	c.2811G>A	c.(2809-2811)ACG>ACA	p.T937T	HDAC9_uc003sue.2_Silent_p.T937T|HDAC9_uc003sui.2_Silent_p.T940T|HDAC9_uc003suj.2_Silent_p.T896T|HDAC9_uc003suk.2_Silent_p.T185T	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	937	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	GTCATTTGACGAAGCAATTGA	0.363													A	18975448	G	A	18975448	2	1	104	1	0	0	0	0	0	0	0	1	7014	1045	37	1		1	HDAC9	7	18975448	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	287257	18975448	140163215	2955	69569											
FERD3L	222894	broad.mit.edu	37	chr7	19184613	19184613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacgtgggcaccttcctccGcagctggtcaaaggcctcgt	11	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:19184613G>A	uc003suo.1	-	1	432	c.373C>T	c.(373-375)CGG>TGG	p.R125W	uc003sun.1_RNA	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	125	Helix-loop-helix motif.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(1)	1						ACCTTCCTCCGCAGCTGGTCA	0.587													A	19184613	G	A	19184613	3	1	104	1	0	0	0	0	1	0	0	0	5816	1086	38	1	131	1	FERD3L	7	19184613	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	209165	19184613	139954050	2956	69570											
MACC1	346389	broad.mit.edu	37	chr7	20180649	20180649	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tattaaaactccagttaattCtctccagtgtttagtcacag	5	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:20180649C>A	uc003sus.3	-	7	2788	c.2479G>T	c.(2479-2481)GAA>TAA	p.E827*	MACC1_uc010kug.2_Nonsense_Mutation_p.E827*	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	827					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3						CCAGTTAATTCTCTCCAGTGT	0.383													A	20180649	C	A	20180649	4	1	104	1	0	0	0	0	0	1	0	0	9143	922	32	5	83	5	MACC1	7	20180649	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	996036	20180649	138958014	2957	69571											
ITGB8	3696	broad.mit.edu	37	chr7	20420296	20420296	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcccacacagtgactacAatttagactgcatgcctccc	5	14	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:20420296A>C	uc003suu.2	+	5	1348	c.643A>C	c.(643-645)AAT>CAT	p.N215H	ITGB8_uc011jyh.1_Missense_Mutation_p.N80H|ITGB8_uc003sut.2_Missense_Mutation_p.N215H	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	215	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						CAGTGACTACAATTTAGACTG	0.388													C	20420296	A	C	20420296	3	2	104	1	0	0	0	0	1	0	0	0	7901	130	5	5	661	5	ITGB8	7	20420296	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	239647	20420296	138718367	2958	69572											
ABCB5	340273	broad.mit.edu	37	chr7	20682911	20682911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgacagaccaagaggattcGaaaacagttttttcattcag	8	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:20682911G>A	uc010kuh.2	+	6	656	c.419G>A	c.(418-420)CGA>CAA	p.R140Q		NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	324	Extracellular (Potential).|ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						AAGAGGATTCGAAAACAGTTT	0.418													A	20682911	G	A	20682911	3	1	104	1	0	0	0	0	1	0	0	0	44	1058	37	1	437	1	ABCB5	7	20682911	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	262615	20682911	138455752	2959	69573											
SP8	221833	broad.mit.edu	37	chr7	20824181	20824181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggtgccgctgcagctcgtCggagcgcgtgaagcgcttgc	16	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:20824181C>T	uc003suy.2	-	3	1442	c.1201G>A	c.(1201-1203)GAC>AAC	p.D401N	SP8_uc003suz.2_Missense_Mutation_p.D419N	NM_198956	NP_945194	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor isoform 2	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1						TGCAGCTCGTCGGAGCGCGTG	0.657													T	20824181	C	T	20824181	3	4	104	1	0	0	0	0	1	0	0	0	14970	884	31	1	275	1	SP8	7	20824181	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	141270	20824181	138314482	2960	69574											
DNAH11	8701	broad.mit.edu	37	chr7	21641066	21641066	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagattccggacttcagagaGaattaaatgaaggtgatcat	10	6	2	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:21641066G>T	uc003svc.2	+	18	3509	c.3478G>T	c.(3478-3480)GAA>TAA	p.E1160*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1160	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						ACTTCAGAGAGAATTAAATGA	0.348									Kartagener_syndrome				T	21641066	G	T	21641066	4	4	104	1	0	0	0	0	0	1	0	0	4599	943	33	5	3548	5	DNAH11	7	21641066	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	816885	21641066	137497597	2961	69575											
DNAH11	8701	broad.mit.edu	37	chr7	21721288	21721288	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgtggtggcaaaacttatttCtcagaaggcaagttgtttgt	11	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:21721288C>A	uc003svc.2	+	31	5499	c.5468C>A	c.(5467-5469)TCT>TAT	p.S1823Y		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1823	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AAACTTATTTCTCAGAAGGCA	0.383									Kartagener_syndrome				A	21721288	C	A	21721288	3	1	104	1	0	0	0	0	1	0	0	0	4599	913	32	5	5590	5	DNAH11	7	21721288	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	80222	21721288	137417375	2962	69576											
DNAH11	8701	broad.mit.edu	37	chr7	21857846	21857846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattttaaggtttttgaatgCcattgaaactgctttggcct	8	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:21857846C>T	uc003svc.2	+	66	10632	c.10601C>T	c.(10600-10602)GCC>GTC	p.A3534V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3534	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TTTTTGAATGCCATTGAAACT	0.318									Kartagener_syndrome				T	21857846	C	T	21857846	3	4	104	1	0	0	0	0	1	0	0	0	4599	739	26	2	10860	2	DNAH11	7	21857846	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	136558	21857846	137280817	2963	69577											
RAPGEF5	9771	broad.mit.edu	37	chr7	22175722	22175722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgaatgcatctctgtaggCtttgtgatttagggaaggat	12	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:22175722C>T	uc003svg.2	-	23	2204	c.1891G>A	c.(1891-1893)GCC>ACC	p.A631T	RAPGEF5_uc011jyl.1_Missense_Mutation_p.A312T	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	481	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			ovary(1)	1						TCTCTGTAGGCTTTGTGATTT	0.358													T	22175722	C	T	22175722	3	4	104	1	0	0	0	0	1	0	0	0	13047	797	28	2	317	2	RAPGEF5	7	22175722	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	317876	22175722	136962941	2964	69578											
FAM126A	84668	broad.mit.edu	37	chr7	22985298	22985298	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagttctttctgaaacgtaAataagcttttcttcttggag	7	7	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:22985298A>C	uc003svm.3	-	11	1731	c.1476T>G	c.(1474-1476)ATT>ATG	p.I492M	FAM126A_uc003svn.3_3'UTR	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	492						cytoplasm|membrane	signal transducer activity			central_nervous_system(1)	1						CTGAAACGTAAATAAGCTTTT	0.433													C	22985298	A	C	22985298	3	2	104	1	0	0	0	0	1	0	0	0	5429	10	1	5	93	5	FAM126A	7	22985298	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	809576	22985298	136153365	2965	69579											
NUPL2	11097	broad.mit.edu	37	chr7	23239806	23239806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctttccagtcaataacagCagcagtgataatgctcagaa	9	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:23239806C>T	uc003svu.2	+	7	973	c.714C>T	c.(712-714)AGC>AGT	p.S238S	NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_Silent_p.S115S|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_Silent_p.S115S|NUPL2_uc011jyx.1_Silent_p.S10S	NM_007342	NP_031368	O15504	NUPL2_HUMAN	nucleoporin like 2	238	Ser-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			skin(2)|ovary(1)	3						TCAATAACAGCAGCAGTGATA	0.358													T	23239806	C	T	23239806	2	4	104	1	0	0	0	0	0	0	0	1	10775	709	25	2		2	NUPL2	7	23239806	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	254508	23239806	135898857	2966	69580											
GPNMB	10457	broad.mit.edu	37	chr7	23286505	23286505	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctactatttcctgggatTtctgctcctggctgcaagat	8	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:23286505T>G	uc003swc.2	+	1	190	c.29T>G	c.(28-30)TTT>TGT	p.F10C	GPNMB_uc003swa.2_Missense_Mutation_p.F10C|GPNMB_uc003swb.2_Missense_Mutation_p.F10C|GPNMB_uc011jyy.1_Missense_Mutation_p.F10C|GPNMB_uc011jyz.1_Missense_Mutation_p.F10C	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	10					negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)			TTCCTGGGATTTCTGCTCCTG	0.483													G	23286505	T	G	23286505	3	3	104	1	0	0	0	0	1	0	0	0	6620	1841	64	5	31	5	GPNMB	7	23286505	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	46699	23286505	135852158	2967	69581											
GPNMB	10457	broad.mit.edu	37	chr7	23306137	23306137	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgattcaaacaccccaggAcctgctggtgacaaccccct	7	15	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:23306137A>G	uc003swc.2	+	7	1217	c.1056A>G	c.(1054-1056)GGA>GGG	p.G352G	GPNMB_uc003swb.2_Silent_p.G340G|GPNMB_uc011jyy.1_Silent_p.G294G|GPNMB_uc011jyz.1_Silent_p.G241G	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	352	Extracellular (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)			ACACCCCAGGACCTGCTGGTG	0.383													G	23306137	A	G	23306137	2	3	104	1	0	0	0	0	0	0	0	1	6620	289	10	3		3	GPNMB	7	23306137	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	19632	23306137	135832526	2968	69582											
IGF2BP3	10643	broad.mit.edu	37	chr7	23352069	23352069	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcagaatttcctgaatttttCtctgggcaacctagaaaagg	8	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:23352069C>A	uc003swg.2	-	15	1918	c.1652G>T	c.(1651-1653)AGA>ATA	p.R551I	IGF2BP3_uc003swf.2_Missense_Mutation_p.R170I	NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding	551	KH 4.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			ovary(2)	2						CTGAATTTTTCTCTGGGCAAC	0.393													A	23352069	C	A	23352069	3	1	104	1	0	0	0	0	1	0	0	0	7575	913	32	5	91	5	IGF2BP3	7	23352069	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	45932	23352069	135786594	2969	69583											
TRA2A	29896	broad.mit.edu	37	chr7	23552632	23552632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atatcgagaaaatacttcacGaagatccctctctgttgtgt	7	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:23552632G>A	uc003swi.2	-	4	620	c.406C>T	c.(406-408)CGT>TGT	p.R136C	TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_Missense_Mutation_p.R35C|TRA2A_uc011jzd.1_Missense_Mutation_p.R35C|TRA2A_uc010kuo.1_RNA	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	transformer-2 alpha	136	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			ovary(1)	1						AATACTTCACGAAGATCCCTC	0.413													A	23552632	G	A	23552632	3	1	104	1	0	0	0	0	1	0	0	0	16430	1058	37	1	462	1	TRA2A	7	23552632	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	200563	23552632	135586031	2970	69584											
C7orf46	340277	broad.mit.edu	37	chr7	23724207	23724207	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttacctctgcgcttacaaaAcagattatttgtgagctggc	8	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:23724207A>C	uc003swo.3	+	2	244	c.155A>C	c.(154-156)AAC>ACC	p.N52T	C7orf46_uc003swq.3_Missense_Mutation_p.N52T|C7orf46_uc003swr.3_Intron|C7orf46_uc003swp.3_RNA|C7orf46_uc010kup.2_RNA	NM_199136	NP_954587	A4D161	CG046_HUMAN	hypothetical protein LOC340277 isoform 1	52											0						CGCTTACAAAACAGATTATTT	0.378													C	23724207	A	C	23724207	3	2	104	1	0	0	0	0	1	0	0	0	2396	43	2	5	161	5	C7orf46	7	23724207	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	171575	23724207	135414456	2971	69585											
STK31	56164	broad.mit.edu	37	chr7	23811802	23811802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgaatatttaaataagagtCccagtgtggatcacttgcta	8	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:23811802C>T	uc003sws.3	+	15	1937	c.1870C>T	c.(1870-1872)CCC>TCC	p.P624S	STK31_uc003swt.3_Missense_Mutation_p.P601S|STK31_uc011jze.1_Missense_Mutation_p.P624S|STK31_uc010kuq.2_Missense_Mutation_p.P601S	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	624							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						AAATAAGAGTCCCAGTGTGGA	0.303													T	23811802	C	T	23811802	3	4	104	1	0	0	0	0	1	0	0	0	15295	855	30	4	1928	4	STK31	7	23811802	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	87595	23811802	135326861	2972	69586											
NFE2L3	9603	broad.mit.edu	37	chr7	26225069	26225069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttatccgtgacatcagacGaagagggaaaaataaagttg	10	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:26225069G>A	uc003sxq.2	+	4	2023	c.1751G>A	c.(1750-1752)CGA>CAA	p.R584Q		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	nuclear factor erythroid 2-like 3	584	Basic motif.				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			skin(3)|ovary(1)	4						GACATCAGACGAAGAGGGAAA	0.373													A	26225069	G	A	26225069	3	1	104	1	0	0	0	0	1	0	0	0	10369	1058	37	1	1765	1	NFE2L3	7	26225069	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2413267	26225069	132913594	2973	69587											
HIBADH	11112	broad.mit.edu	37	chr7	27669050	27669050	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcaacttctttggccaattCttttgaaactgcaggatcaa	6	10	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:27669050C>A	uc003szf.2	-	4	619	c.424G>T	c.(424-426)GAA>TAA	p.E142*	HIBADH_uc003szg.2_Nonsense_Mutation_p.E93*|HIBADH_uc003szh.2_Nonsense_Mutation_p.E41*|HIBADH_uc003szi.2_Nonsense_Mutation_p.E93*	NM_152740	NP_689953	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase precursor	142					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			ovary(2)	2			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	TTGGCCAATTCTTTTGAAACT	0.333													A	27669050	C	A	27669050	4	1	104	1	0	0	0	0	0	1	0	0	7099	922	32	5	606	5	HIBADH	7	27669050	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1443981	27669050	131469613	2974	69588											
TAX1BP1	8887	broad.mit.edu	37	chr7	27831686	27831686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacaggttcaggcaactcGgcaagaagttgtctttctgg	13	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:27831686G>A	uc003szl.2	+	9	1258	c.1100G>A	c.(1099-1101)CGG>CAG	p.R367Q	TAX1BP1_uc011jzo.1_Missense_Mutation_p.R367Q|TAX1BP1_uc003szk.2_Missense_Mutation_p.R367Q|TAX1BP1_uc011jzp.1_Missense_Mutation_p.R210Q	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	367	Oligomerization.|Potential.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)	1			GBM - Glioblastoma multiforme(3;0.0823)			CAGGCAACTCGGCAAGAAGTT	0.418													A	27831686	G	A	27831686	3	1	104	1	0	0	0	0	1	0	0	0	15591	1116	39	1	1130	1	TAX1BP1	7	27831686	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	162636	27831686	131306977	2975	69589											
CPVL	54504	broad.mit.edu	37	chr7	29132288	29132288	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgactgcatatccgtgggTatcatcagtaaaactgaagc	9	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:29132288T>C	uc003szv.2	-	6	612	c.493A>G	c.(493-495)ACC>GCC	p.T165A	CPVL_uc003szw.2_Missense_Mutation_p.T165A|CPVL_uc003szx.2_Missense_Mutation_p.T165A	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	165					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2						TATCCGTGGGTATCATCAGTA	0.453													C	29132288	T	C	29132288	3	2	104	1	0	0	0	0	1	0	0	0	3835	1638	57	3	969	3	CPVL	7	29132288	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1300602	29132288	130006375	2976	69590											
C7orf41	222166	broad.mit.edu	37	chr7	30185810	30185810	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacgtgtggagtgagagCgaggactgcctgcctttctt	14	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:30185810C>T	uc011kab.1	+	2	381	c.180C>T	c.(178-180)AGC>AGT	p.S60S	C7orf41_uc010kvr.1_RNA|C7orf41_uc003tar.1_Silent_p.S60S	NM_152793	NP_690006	Q8N3F0	CG041_HUMAN	hypothetical protein LOC222166	60											0						GGAGTGAGAGCGAGGACTGCC	0.522													T	30185810	C	T	30185810	2	4	104	1	0	0	0	0	0	0	0	1	2391	767	27	1		1	C7orf41	7	30185810	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1053522	30185810	128952853	2977	69591											
INMT	11185	broad.mit.edu	37	chr7	30795377	30795377	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggctttgacattgaacaGctcctacacagtccccagag	9	13	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:30795377G>A	uc003tbs.1	+	3	718	c.702G>A	c.(700-702)CAG>CAA	p.Q234Q	FAM188B_uc010kwe.2_Intron|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Silent_p.Q233Q	NM_006774	NP_006765	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	234						cytoplasm	amine N-methyltransferase activity				0						ACATTGAACAGCTCCTACACA	0.577													A	30795377	G	A	30795377	2	1	104	1	0	0	0	0	0	0	0	1	7745	962	34	2		2	INMT	7	30795377	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	609567	30795377	128343286	2978	69592											
CCDC129	223075	broad.mit.edu	37	chr7	31611727	31611727	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caactgtagatctttgcatcAgttttcagaaactcccatcc	5	12	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:31611727A>C	uc003tcj.1	+	6	1313	c.320A>C	c.(319-321)CAG>CCG	p.Q107P	CCDC129_uc011kad.1_Missense_Mutation_p.Q117P|CCDC129_uc003tci.1_Missense_Mutation_p.Q106P|CCDC129_uc011kae.1_Missense_Mutation_p.Q133P|CCDC129_uc003tck.1_Missense_Mutation_p.Q15P	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	107											0						TCTTTGCATCAGTTTTCAGAA	0.403													C	31611727	A	C	31611727	3	2	104	1	0	0	0	0	1	0	0	0	2764	188	7	5	338	5	CCDC129	7	31611727	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	816350	31611727	127526936	2979	69593											
CCDC129	223075	broad.mit.edu	37	chr7	31682346	31682346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagaatggaggtagaaaGccaagagatcagagccacag	14	7	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:31682346G>A	uc003tcj.1	+	11	2355	c.1362G>A	c.(1360-1362)AAG>AAA	p.K454K	CCDC129_uc011kad.1_Silent_p.K464K|CCDC129_uc003tci.1_Silent_p.K305K|CCDC129_uc011kae.1_Silent_p.K480K|CCDC129_uc003tck.1_Silent_p.K362K	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	454											0						GAGGTAGAAAGCCAAGAGATC	0.522													A	31682346	G	A	31682346	2	1	104	1	0	0	0	0	0	0	0	1	2764	962	34	2		2	CCDC129	7	31682346	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	70619	31682346	127456317	2980	69594											
CCDC129	223075	broad.mit.edu	37	chr7	31691657	31691657	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaaatcagagaagggaTtttactggtatgggtgatgg	14	4	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:31691657T>C	uc003tcj.1	+	13	3809	c.2816T>C	c.(2815-2817)ATT>ACT	p.I939T	CCDC129_uc011kad.1_Missense_Mutation_p.I949T|CCDC129_uc003tci.1_Missense_Mutation_p.I790T|CCDC129_uc011kae.1_Missense_Mutation_p.I965T|CCDC129_uc003tck.1_Missense_Mutation_p.I847T	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	939											0						AGAGAAGGGATTTTACTGGTA	0.488													C	31691657	T	C	31691657	3	2	104	1	0	0	0	0	1	0	0	0	2764	1493	52	3	2862	3	CCDC129	7	31691657	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	9311	31691657	127447006	2981	69595											
C7orf16	10842	broad.mit.edu	37	chr7	31735144	31735144	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaagcctagaaagggaaaAaatgtacaggccaccctgaa	10	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:31735144A>C	uc003tcl.2	+	3	302	c.144A>C	c.(142-144)AAA>AAC	p.K48N	C7orf16_uc011kaf.1_Intron	NM_006658	NP_006649	O96001	GSUB_HUMAN	G-substrate isoform 1	48					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction				ovary(2)|central_nervous_system(1)	3			GBM - Glioblastoma multiforme(11;0.216)			GAAAGGGAAAAAATGTACAGG	0.398													C	31735144	A	C	31735144	3	2	104	1	0	0	0	0	1	0	0	0	2378	11	1	5	150	5	C7orf16	7	31735144	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	43487	31735144	127403519	2982	69596											
C7orf16	10842	broad.mit.edu	37	chr7	31746890	31746890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggatggtgacaagatagCtatttaaagatagttcccct	9	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:31746890C>T	uc003tcl.2	+	5	619	c.461C>T	c.(460-462)GCT>GTT	p.A154V	C7orf16_uc011kaf.1_Missense_Mutation_p.A103V	NM_006658	NP_006649	O96001	GSUB_HUMAN	G-substrate isoform 1	154					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction				ovary(2)|central_nervous_system(1)	3			GBM - Glioblastoma multiforme(11;0.216)			GACAAGATAGCTATTTAAAGA	0.423													T	31746890	C	T	31746890	3	4	104	1	0	0	0	0	1	0	0	0	2378	797	28	2	475	2	C7orf16	7	31746890	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	11746	31746890	127391773	2983	69597											
PDE1C	5137	broad.mit.edu	37	chr7	31855674	31855674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcagctttgccagatgcGccttcttcagcctggctttt	8	13	3	1	rs144853377	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:31855674G>A	uc003tcm.1	-	15	2146	c.1677C>T	c.(1675-1677)GGC>GGT	p.G559G	PDE1C_uc003tcn.1_Silent_p.G559G|PDE1C_uc003tco.1_Silent_p.G619G|PDE1C_uc003tcr.2_Silent_p.G559G|PDE1C_uc003tcs.2_Silent_p.G559G	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	559					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			TGCCAGATGCGCCTTCTTCAG	0.502													A	31855674	G	A	31855674	2	1	104	1	0	0	0	0	0	0	0	1	11635	1074	38	1		1	PDE1C	7	31855674	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	108784	31855674	127282989	2984	69598											
PDE1C	5137	broad.mit.edu	37	chr7	31862790	31862790	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagatgacagaattgttgatCggggcacttccctctgaacc	11	10	1	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:31862790C>T	uc003tcm.1	-	14	1948	c.1479G>A	c.(1477-1479)CCG>CCA	p.P493P	PDE1C_uc003tcn.1_Silent_p.P493P|PDE1C_uc003tco.1_Silent_p.P553P|PDE1C_uc003tcr.2_Silent_p.P493P|PDE1C_uc003tcs.2_Silent_p.P493P	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	493	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			AATTGTTGATCGGGGCACTTC	0.468													T	31862790	C	T	31862790	2	4	104	1	0	0	0	0	0	0	0	1	11635	871	31	1		1	PDE1C	7	31862790	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7116	31862790	127275873	2985	69599											
KBTBD2	25948	broad.mit.edu	37	chr7	32909220	32909220	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taagtgggtttctcgcataaAcacacatagagaatttgaga	9	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:32909220A>G	uc003tdb.2	-	4	2268	c.1609T>C	c.(1609-1611)TTT>CTT	p.F537L	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	537	Kelch 5.										0			GBM - Glioblastoma multiforme(11;0.0499)			TCTCGCATAAACACACATAGA	0.448													G	32909220	A	G	32909220	3	3	104	1	0	0	0	0	1	0	0	0	7993	43	2	3	266	3	KBTBD2	7	32909220	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1046430	32909220	126229443	2986	69600											
KBTBD2	25948	broad.mit.edu	37	chr7	32910050	32910050	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctctttagtcatcccaagtCttggtttgaaaaacttgggc	8	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:32910050C>A	uc003tdb.2	-	4	1438	c.779G>T	c.(778-780)AGA>ATA	p.R260I	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	260											0			GBM - Glioblastoma multiforme(11;0.0499)			CATCCCAAGTCTTGGTTTGAA	0.418													A	32910050	C	A	32910050	3	1	104	1	0	0	0	0	1	0	0	0	7993	913	32	5	1096	5	KBTBD2	7	32910050	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	830	32910050	126228613	2987	69601											
NT5C3	51251	broad.mit.edu	37	chr7	33066500	33066500	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttgtagggttcttgattcGaactgaacttttctggaatt	9	6	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:33066500G>A	uc003tdk.2	-	2	258	c.181C>T	c.(181-183)CGA>TGA	p.R61*	AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Nonsense_Mutation_p.R22*|NT5C3_uc003tdj.2_Nonsense_Mutation_p.R22*	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	5'-nucleotidase, cytosolic III isoform 1	61					nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1			GBM - Glioblastoma multiforme(11;0.0894)			TTCTTGATTCGAACTGAACTT	0.338													A	33066500	G	A	33066500	4	1	104	1	0	0	0	0	0	1	0	0	10688	1066	37	1	861	1	NT5C3	7	33066500	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	156450	33066500	126072163	2988	69602											
BBS9	27241	broad.mit.edu	37	chr7	33312691	33312691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctctttcaatcagtcggCatcctctgtttttgttcttg	7	10	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:33312691C>T	uc003tdn.1	+	8	1283	c.770C>T	c.(769-771)GCA>GTA	p.A257V	BBS9_uc003tdo.1_Missense_Mutation_p.A257V|BBS9_uc003tdp.1_Missense_Mutation_p.A257V|BBS9_uc003tdq.1_Missense_Mutation_p.A257V|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.A257V|BBS9_uc011kao.1_Missense_Mutation_p.A135V	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	257					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			AATCAGTCGGCATCCTCTGTT	0.373									Bardet-Biedl_syndrome				T	33312691	C	T	33312691	3	4	104	1	0	0	0	0	1	0	0	0	1342	710	25	2	796	2	BBS9	7	33312691	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	246191	33312691	125825972	2989	69603											
KIAA0895	23366	broad.mit.edu	37	chr7	36366482	36366482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgagggaccctcatgttttCggtaactgccaatcctttta	8	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:36366482C>T	uc003tfd.2	-	7	1501	c.1450G>A	c.(1450-1452)GAA>AAA	p.E484K	KIAA0895_uc003tfc.2_Missense_Mutation_p.E471K|KIAA0895_uc011kaw.1_Missense_Mutation_p.E381K|KIAA0895_uc003tfb.2_Missense_Mutation_p.E433K|KIAA0895_uc011kax.1_Missense_Mutation_p.E481K	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN	hypothetical protein LOC23366 isoform 1	484											0						CTCATGTTTTCGGTAACTGCC	0.378													T	36366482	C	T	36366482	3	4	104	1	0	0	0	0	1	0	0	0	8197	893	31	1	116	1	KIAA0895	7	36366482	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3053791	36366482	122772181	2990	69604											
ANLN	54443	broad.mit.edu	37	chr7	36435908	36435908	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacccgtgccaggcgagagAatcttcagagaaaaatggct	12	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:36435908A>C	uc003tff.2	+	2	256	c.52A>C	c.(52-54)AAT>CAT	p.N18H	ANLN_uc011kaz.1_Missense_Mutation_p.N18H|ANLN_uc003tfg.2_Missense_Mutation_p.N18H|ANLN_uc010kxe.2_Missense_Mutation_p.N18H	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	18	Required for ubiquitination.|Nuclear localization.|Interaction with CD2AP.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3						CAGGCGAGAGAATCTTCAGAG	0.428													C	36435908	A	C	36435908	3	2	104	1	0	0	0	0	1	0	0	0	694	246	9	5	58	5	ANLN	7	36435908	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	69426	36435908	122702755	2991	69605											
ANLN	54443	broad.mit.edu	37	chr7	36438957	36438957	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttaaaacacgtatgcaaAaacttgcagagcaacggcgc	9	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:36438957A>C	uc003tff.2	+	3	646	c.442A>C	c.(442-444)AAA>CAA	p.K148Q	ANLN_uc011kaz.1_Missense_Mutation_p.K60Q|ANLN_uc003tfg.2_Missense_Mutation_p.K148Q|ANLN_uc010kxe.2_Missense_Mutation_p.K148Q	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	148	Nuclear localization.|Interaction with CD2AP.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3						ACGTATGCAAAAACTTGCAGA	0.458													C	36438957	A	C	36438957	3	2	104	1	0	0	0	0	1	0	0	0	694	15	1	5	452	5	ANLN	7	36438957	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	3049	36438957	122699706	2992	69606											
ANLN	54443	broad.mit.edu	37	chr7	36465637	36465637	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttagaaaagcaacattcAttcttcaggtgagtgtatct	7	6	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:36465637A>C	uc003tff.2	+	19	2966	c.2762A>C	c.(2761-2763)CAT>CCT	p.H921P	ANLN_uc011kaz.1_Missense_Mutation_p.H833P|ANLN_uc003tfg.2_Missense_Mutation_p.H884P|ANLN_uc010kxe.2_Missense_Mutation_p.H883P	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	921	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3						AGCAACATTCATTCTTCAGGT	0.274													C	36465637	A	C	36465637	3	2	104	1	0	0	0	0	1	0	0	0	694	217	8	5	2836	5	ANLN	7	36465637	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	26680	36465637	122673026	2993	69607											
TXNDC3	51314	broad.mit.edu	37	chr7	37901645	37901645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatagaatggcaaaattatcGaaaagattcagggtgcaaat	9	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:37901645G>A	uc003tfn.2	+	7	658	c.286G>A	c.(286-288)GAA>AAA	p.E96K		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	96	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						CAAAATTATCGAAAAGATTCA	0.383									Kartagener_syndrome				A	37901645	G	A	37901645	3	1	104	1	0	0	0	0	1	0	0	0	16795	1059	37	1	304	1	TXNDC3	7	37901645	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1436008	37901645	121237018	2994	69608											
TXNDC3	51314	broad.mit.edu	37	chr7	37907312	37907312	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttattttgtagtgtgacttCgaagagtttgtctcttttat	8	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:37907312C>T	uc003tfn.2	+	11	1002	c.630C>T	c.(628-630)TTC>TTT	p.F210F		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	210	NDK 1.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						AGTGTGACTTCGAAGAGTTTG	0.388									Kartagener_syndrome				T	37907312	C	T	37907312	2	4	104	1	0	0	0	0	0	0	0	1	16795	883	31	1		1	TXNDC3	7	37907312	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5667	37907312	121231351	2995	69609											
SFRP4	6424	broad.mit.edu	37	chr7	37947093	37947093	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagttagctcacactcttttCgggtttgttctcttctgggc	9	10	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:37947093C>T	uc003tfo.3	-	6	1415	c.1029G>A	c.(1027-1029)CCG>CCA	p.P343P		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	343					brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(1)	1						ACACTCTTTTCGGGTTTGTTC	0.507													T	37947093	C	T	37947093	2	4	104	1	0	0	0	0	0	0	0	1	14163	871	31	1		1	SFRP4	7	37947093	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	39781	37947093	121191570	2996	69610											
EPDR1	54749	broad.mit.edu	37	chr7	37988556	37988556	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggatcctcttgacattccTcaaaactccacctttgaaga	6	12	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:37988556T>C	uc003tfp.2	+	2	763	c.744T>C	c.(742-744)CCT>CCC	p.P248P	EPDR1_uc003tfq.2_Intron|EPDR1_uc010kxh.2_Silent_p.P67P	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	128					cell-matrix adhesion	extracellular region	calcium ion binding			upper_aerodigestive_tract(1)	1						TTGACATTCCTCAAAACTCCA	0.512													C	37988556	T	C	37988556	2	2	104	1	0	0	0	0	0	0	0	1	5163	1538	54	3		3	EPDR1	7	37988556	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	41463	37988556	121150107	2997	69611											
AMPH	273	broad.mit.edu	37	chr7	38574563	38574563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagttctggacatattcttCgaactgttcgtcttttgtct	8	8	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:38574563C>T	uc003tgu.2	-	2	187	c.118G>A	c.(118-120)GAA>AAA	p.E40K	AMPH_uc003tgv.2_Missense_Mutation_p.E40K	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	40	BAR.|Potential.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						ACATATTCTTCGAACTGTTCG	0.338													T	38574563	C	T	38574563	3	4	104	1	0	0	0	0	1	0	0	0	588	893	31	1	2049	1	AMPH	7	38574563	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	586007	38574563	120564100	2998	69612											
VPS41	27072	broad.mit.edu	37	chr7	38791871	38791871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctgtttttcatggtaacGctgccccttatggtggtctc	10	10	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:38791871G>A	uc003tgy.2	-	22	1857	c.1831C>T	c.(1831-1833)CGT>TGT	p.R611C	VPS41_uc003tgz.2_Missense_Mutation_p.R586C|VPS41_uc010kxn.2_Missense_Mutation_p.R522C	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	611	Clathrin.				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						TCATGGTAACGCTGCCCCTTA	0.408													A	38791871	G	A	38791871	3	1	104	1	0	0	0	0	1	0	0	0	17207	1087	38	1	765	1	VPS41	7	38791871	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	217308	38791871	120346792	2999	69613											
VPS41	27072	broad.mit.edu	37	chr7	38796580	38796580	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catagttcttgtcataggtgTacctggtaatacaaattttt	7	6	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:38796580T>C	uc003tgy.2	-	19	1579	c.1553A>G	c.(1552-1554)TAC>TGC	p.Y518C	VPS41_uc003tgz.2_Missense_Mutation_p.Y493C|VPS41_uc010kxn.2_Missense_Mutation_p.Y429C	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	518					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						GTCATAGGTGTACCTGGTAAT	0.308													C	38796580	T	C	38796580	3	2	104	1	0	0	0	0	1	0	0	0	17207	1638	57	3	1055	3	VPS41	7	38796580	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	4709	38796580	120342083	3000	69614											
CDK13	8621	broad.mit.edu	37	chr7	40132606	40132606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacaccacaacaggagtcttCgaaaccgttgggaggaattc	10	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:40132606C>T	uc003thh.3	+	13	3740	c.3458C>T	c.(3457-3459)TCG>TTG	p.S1153L	CDK13_uc003thi.3_Missense_Mutation_p.S1093L|CDK13_uc003thj.2_Missense_Mutation_p.S204L|CDK13_uc003thk.2_Missense_Mutation_p.S86L	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1153					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						CAGGAGTCTTCGAAACCGTTG	0.478													T	40132606	C	T	40132606	3	4	104	1	0	0	0	0	1	0	0	0	3129	893	31	1	3508	1	CDK13	7	40132606	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1336026	40132606	119006057	3001	69615											
CDK13	8621	broad.mit.edu	37	chr7	40133992	40133992	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccaggatgaccccaaaagaGaaggtgggattgattatcaa	11	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:40133992G>T	uc003thh.3	+	14	4234	c.3952G>T	c.(3952-3954)GAA>TAA	p.E1318*	CDK13_uc003thi.3_Nonsense_Mutation_p.E1258*|CDK13_uc003thj.2_Nonsense_Mutation_p.E369*|CDK13_uc003thk.2_Nonsense_Mutation_p.E251*	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1318					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						CCCCAAAAGAGAAGGTGGGAT	0.493													T	40133992	G	T	40133992	4	4	104	1	0	0	0	0	0	1	0	0	3129	943	33	5	4006	5	CDK13	7	40133992	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1386	40133992	119004671	3002	69616											
C7orf10	79783	broad.mit.edu	37	chr7	40228169	40228169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atattatctcagtgttaaccGaaataaaaaagtaagaatat	5	4	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:40228169G>A	uc003thn.1	+	4	347	c.302G>A	c.(301-303)CGA>CAA	p.R101Q	C7orf10_uc003thm.1_Missense_Mutation_p.R108Q|C7orf10_uc003tho.1_Missense_Mutation_p.R101Q	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN	dermal papilla derived protein 13	108							transferase activity			ovary(2)	2						AGTGTTAACCGAAATAAAAAA	0.338													A	40228169	G	A	40228169	3	1	104	1	0	0	0	0	1	0	0	0	2376	1058	37	1	337	1	C7orf10	7	40228169	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	94177	40228169	118910494	3003	69617											
GLI3	2737	broad.mit.edu	37	chr7	42003980	42003980	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgctagggaggtcagcaaaGaactcatgtccccgatagcc	11	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:42003980G>T	uc011kbh.1	-	15	4782	c.4691C>A	c.(4690-4692)TCT>TAT	p.S1564Y	GLI3_uc011kbg.1_Missense_Mutation_p.S1505Y	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1564					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GGTCAGCAAAGAACTCATGTC	0.517									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42003980	G	T	42003980	3	4	104	1	0	0	0	0	1	0	0	0	6439	942	33	5	55	5	GLI3	7	42003980	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1775811	42003980	117134683	3004	69618											
GLI3	2737	broad.mit.edu	37	chr7	42004153	42004153	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatcgtctatgatggcatcGaagtcaatctgtaccccttc	7	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:42004153G>A	uc011kbh.1	-	15	4609	c.4518C>T	c.(4516-4518)TTC>TTT	p.F1506F	GLI3_uc011kbg.1_Silent_p.F1447F	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1506	Asp/Glu-rich (acidic).				negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						TGATGGCATCGAAGTCAATCT	0.552									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42004153	G	A	42004153	2	1	104	1	0	0	0	0	0	0	0	1	6439	1049	37	1		1	GLI3	7	42004153	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	173	42004153	117134510	3005	69619											
GLI3	2737	broad.mit.edu	37	chr7	42004714	42004714	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgagccaggtacccctgTcccactgggtcctggttctg	13	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:42004714T>C	uc011kbh.1	-	15	4048	c.3957A>G	c.(3955-3957)GGA>GGG	p.G1319G	GLI3_uc011kbg.1_Silent_p.G1260G	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1319					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GGTACCCCTGTCCCACTGGGT	0.642									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				C	42004714	T	C	42004714	2	2	104	1	0	0	0	0	0	0	0	1	6439	1654	58	3		3	GLI3	7	42004714	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	561	42004714	117133949	3006	69620											
GLI3	2737	broad.mit.edu	37	chr7	42018306	42018306	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtccagccacctgcacacGaactccttcttctctccatg	5	18	2	0	rs142888674		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:42018306G>A	uc011kbh.1	-	11	1630	c.1539C>T	c.(1537-1539)TTC>TTT	p.F513F	GLI3_uc011kbg.1_Silent_p.F454F	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	513	C2H2-type 2.				negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						ACCTGCACACGAACTCCTTCT	0.448									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42018306	G	A	42018306	2	1	104	1	0	0	0	0	0	0	0	1	6439	1049	37	1		1	GLI3	7	42018306	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13592	42018306	117120357	3007	69621											
C7orf25	79020	broad.mit.edu	37	chr7	42949774	42949774	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttactcttttgcacacatcGaccttaatttctgttggaaa	5	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:42949774G>A	uc003thw.2	-	2	1190	c.726C>T	c.(724-726)GTC>GTT	p.V242V	C7orf25_uc010kxq.2_Silent_p.V242V|C7orf25_uc003thx.3_Silent_p.V300V|C7orf25_uc010kxr.2_Silent_p.V300V	NM_024054	NP_076959	Q9BPX7	CG025_HUMAN	hypothetical protein LOC79020 b	242										skin(1)	1						TGCACACATCGACCTTAATTT	0.413													A	42949774	G	A	42949774	2	1	104	1	0	0	0	0	0	0	0	1	2380	1045	37	1		1	C7orf25	7	42949774	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	931468	42949774	116188889	3008	69622											
BLVRA	644	broad.mit.edu	37	chr7	43830923	43830923	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccagccaagaggtggaggtCgcctatatctgcagtgagag	14	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:43830923C>T	uc003tir.2	+	4	293	c.210C>T	c.(208-210)GTC>GTT	p.V70V	BLVRA_uc010kxv.2_Silent_p.V70V	NM_000712	NP_000703	P53004	BIEA_HUMAN	biliverdin reductase A precursor	70					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			ovary(1)	1					NADH(DB00157)	AGGTGGAGGTCGCCTATATCT	0.398													T	43830923	C	T	43830923	2	4	104	1	0	0	0	0	0	0	0	1	1451	871	31	1		1	BLVRA	7	43830923	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	881149	43830923	115307740	3009	69623											
BLVRA	644	broad.mit.edu	37	chr7	43840110	43840110	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaactcttgatggaggaattCgctttcctgaaaaaagaagt	10	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:43840110C>T	uc003tir.2	+	6	482	c.399C>T	c.(397-399)TTC>TTT	p.F133F	BLVRA_uc010kxv.2_Silent_p.F133F	NM_000712	NP_000703	P53004	BIEA_HUMAN	biliverdin reductase A precursor	133					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			ovary(1)	1					NADH(DB00157)	TGGAGGAATTCGCTTTCCTGA	0.483													T	43840110	C	T	43840110	2	4	104	1	0	0	0	0	0	0	0	1	1451	883	31	1		1	BLVRA	7	43840110	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	9187	43840110	115298553	3010	69624											
BLVRA	644	broad.mit.edu	37	chr7	43846619	43846619	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggacctggtctaaaacgaAacagatatttaagcttccat	7	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:43846619A>C	uc003tir.2	+	8	759	c.676A>C	c.(676-678)AAC>CAC	p.N226H	BLVRA_uc010kxv.2_Missense_Mutation_p.N226H	NM_000712	NP_000703	P53004	BIEA_HUMAN	biliverdin reductase A precursor	226					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			ovary(1)	1					NADH(DB00157)	TCTAAAACGAAACAGATATTT	0.363													C	43846619	A	C	43846619	3	2	104	1	0	0	0	0	1	0	0	0	1451	14	1	5	702	5	BLVRA	7	43846619	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	6509	43846619	115292044	3011	69625											
URGCP	55665	broad.mit.edu	37	chr7	43921522	43921522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacctccataacggaactcGcaatcatctccttccatttc	3	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:43921522G>A	uc003tiw.2	-	4	204	c.147C>T	c.(145-147)TGC>TGT	p.C49C	URGCP_uc003tiu.2_Silent_p.C6C|URGCP_uc003tiv.2_5'UTR|URGCP_uc003tix.2_Silent_p.C40C|URGCP_uc003tiy.2_Silent_p.C6C|URGCP_uc003tiz.2_Silent_p.C6C|URGCP_uc011kbj.1_Silent_p.C6C	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	49					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						aacggaactcgcaatcatctc	0.119													A	43921522	G	A	43921522	2	1	104	1	0	0	0	0	0	0	0	1	17023	1079	38	1		1	URGCP	7	43921522	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	74903	43921522	115217141	3012	69626											
AEBP1	165	broad.mit.edu	37	chr7	44150348	44150348	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gattttgtgaccaccttcttCgtgggcttcagcaatgacag	10	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:44150348C>T	uc003tkb.2	+	12	1730	c.1425C>T	c.(1423-1425)TTC>TTT	p.F475F	AEBP1_uc003tkc.3_5'UTR|AEBP1_uc003tkd.2_5'Flank	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	475	Required for DNA-binding and interaction with NFKBIA (By similarity).|F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CCACCTTCTTCGTGGGCTTCA	0.582													T	44150348	C	T	44150348	2	4	104	1	0	0	0	0	0	0	0	1	349	883	31	1		1	AEBP1	7	44150348	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	228826	44150348	114988315	3013	69627											
AEBP1	165	broad.mit.edu	37	chr7	44153214	44153214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtggtggtgattactggcGaatcttgaacccgggtgagt	15	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:44153214G>A	uc003tkb.2	+	21	3136	c.2831G>A	c.(2830-2832)CGA>CAA	p.R944Q	AEBP1_uc003tkc.3_Missense_Mutation_p.R519Q|AEBP1_uc003tkd.2_Missense_Mutation_p.R194Q	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	944	Interaction with PTEN (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GATTACTGGCGAATCTTGAAC	0.493													A	44153214	G	A	44153214	3	1	104	1	0	0	0	0	1	0	0	0	349	1058	37	1	2913	1	AEBP1	7	44153214	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2866	44153214	114985449	3014	69628											
GCK	2645	broad.mit.edu	37	chr7	44190669	44190669	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgcactcagagatgtagtcGaagagctggaagatgcacgc	13	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:44190669G>A	uc003tkl.2	-	4	839	c.369C>T	c.(367-369)TTC>TTT	p.F123F	GCK_uc003tkj.1_Silent_p.F122F|GCK_uc003tkk.1_Silent_p.F124F	NM_000162	NP_000153	P35557	HXK4_HUMAN	glucokinase isoform 1	123					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	p.F124L(1)		skin(3)|lung(1)	4						AGATGTAGTCGAAGAGCTGGA	0.592													A	44190669	G	A	44190669	2	1	104	1	0	0	0	0	0	0	0	1	6293	1049	37	1		1	GCK	7	44190669	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	37455	44190669	114947994	3015	69629											
YKT6	10652	broad.mit.edu	37	chr7	44251851	44251851	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtttttttccaaggcccgGaaacaaaactcatgctgtgc	8	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:44251851G>A	uc003tkm.2	+	7	724	c.567G>A	c.(565-567)CGG>CGA	p.R189R	YKT6_uc011kbv.1_Silent_p.R155R	NM_006555	NP_006546	O15498	YKT6_HUMAN	YKT6 v-SNARE protein	189	v-SNARE coiled-coil homology.				ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting	cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex	protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity				0						CCAAGGCCCGGAAACAAAACT	0.542													A	44251851	G	A	44251851	2	1	104	1	0	0	0	0	0	0	0	1	17482	1161	41	4		4	YKT6	7	44251851	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	61182	44251851	114886812	3016	69630											
NPC1L1	29881	broad.mit.edu	37	chr7	44579499	44579499	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggagtcatagctctgcTcggcaaagctatgctggtag	13	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:44579499T>C	uc003tlb.2	-	2	553	c.497A>G	c.(496-498)GAG>GGG	p.E166G	NPC1L1_uc003tlc.2_Missense_Mutation_p.E166G|NPC1L1_uc011kbw.1_Missense_Mutation_p.E166G|NPC1L1_uc003tld.2_Missense_Mutation_p.E166G	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	166	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	ATAGCTCTGCTCGGCAAAGCT	0.617													C	44579499	T	C	44579499	3	2	104	1	0	0	0	0	1	0	0	0	10571	1551	54	3	3658	3	NPC1L1	7	44579499	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	327648	44579499	114559164	3017	69631											
DDX56	54606	broad.mit.edu	37	chr7	44609623	44609623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacactactacctgccagctCgatggatgtaggcctcaggg	11	13	1	0	rs144918436		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:44609623C>T	uc003tlg.2	-	8	1758	c.1115G>A	c.(1114-1116)CGA>CAA	p.R372Q	DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Missense_Mutation_p.R308Q|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Missense_Mutation_p.R332Q|DDX56_uc010kyh.1_RNA	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 56	372	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			upper_aerodigestive_tract(1)	1						CCTGCCAGCTCGATGGATGTA	0.592													T	44609623	C	T	44609623	3	4	104	1	0	0	0	0	1	0	0	0	4374	884	31	1	556	1	DDX56	7	44609623	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	30124	44609623	114529040	3018	69632											
TBRG4	9238	broad.mit.edu	37	chr7	45139956	45139956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcagccaccgctttgcGcatcttgtccttgaggtagg	10	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:45139956G>A	uc003tmv.2	-	11	1990	c.1864C>T	c.(1864-1866)CGC>TGC	p.R622C	TBRG4_uc003tmu.2_Missense_Mutation_p.R447C|TBRG4_uc003tmw.2_Missense_Mutation_p.R512C|TBRG4_uc003tmx.2_Missense_Mutation_p.R512C|TBRG4_uc011kcd.1_Missense_Mutation_p.R633C	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	cell cycle progression 2 protein isoform 1	622					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity				0						ACCGCTTTGCGCATCTTGTCC	0.592													A	45139956	G	A	45139956	3	1	104	1	0	0	0	0	1	0	0	0	15646	1087	38	1	35	1	TBRG4	7	45139956	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	530333	45139956	113998707	3019	69633											
ADCY1	107	broad.mit.edu	37	chr7	45662318	45662318	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaactcctcaatgagctcttCggcaagttcgatgaattagc	8	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:45662318C>T	uc003tne.3	+	4	1014	c.996C>T	c.(994-996)TTC>TTT	p.F332F	ADCY1_uc003tnd.2_Silent_p.F107F	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	332	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ATGAGCTCTTCGGCAAGTTCG	0.488													T	45662318	C	T	45662318	2	4	104	1	0	0	0	0	0	0	0	1	292	883	31	1		1	ADCY1	7	45662318	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	522362	45662318	113476345	3020	69634											
ADCY1	107	broad.mit.edu	37	chr7	45688281	45688281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctgaaggagaaccactgtCgccgcatcaagattctcggg	11	13	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:45688281C>T	uc003tne.3	+	5	1051	c.1033C>T	c.(1033-1035)CGC>TGC	p.R345C	ADCY1_uc003tnd.2_Missense_Mutation_p.R120C	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	345	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GAACCACTGTCGCCGCATCAA	0.592													T	45688281	C	T	45688281	3	4	104	1	0	0	0	0	1	0	0	0	292	884	31	1	1051	1	ADCY1	7	45688281	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	25963	45688281	113450382	3021	69635											
ADCY1	107	broad.mit.edu	37	chr7	45743055	45743055	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacctcctgccggcccacgtCgcccagcacttcctcatgtc	7	20	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:45743055C>T	uc003tne.3	+	15	2553	c.2535C>T	c.(2533-2535)GTC>GTT	p.V845V		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	845	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CGGCCCACGTCGCCCAGCACT	0.627													T	45743055	C	T	45743055	2	4	104	1	0	0	0	0	0	0	0	1	292	871	31	1		1	ADCY1	7	45743055	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	54774	45743055	113395608	3022	69636											
IGFBP1	3484	broad.mit.edu	37	chr7	45931546	45931546	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttaggagccctgccgaataGaactctacagagtcgtagag	11	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:45931546G>T	uc003tnp.2	+	3	828	c.535G>T	c.(535-537)GAA>TAA	p.E179*	IGFBP1_uc003tno.3_Nonsense_Mutation_p.E179*|IGFBP1_uc010kyn.2_Intron	NM_000596	NP_000587	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	179	Thyroglobulin type-1.					extracellular space	insulin-like growth factor binding			lung(1)	1						CTGCCGAATAGAACTCTACAG	0.398											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	45931546	G	T	45931546	4	4	104	1	0	0	0	0	0	1	0	0	7578	943	33	5	545	5	IGFBP1	7	45931546	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	188491	45931546	113207117	3023	69637											
TNS3	64759	broad.mit.edu	37	chr7	47341845	47341845	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtcttgaacaaatttcacGatcacaagtttatcacctgg	7	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:47341845G>A	uc003tnv.2	-	23	3850	c.3483C>T	c.(3481-3483)ATC>ATT	p.I1161I	TNS3_uc003tnw.2_Silent_p.I1161I	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	1161						focal adhesion	protein binding			ovary(4)	4						CAAATTTCACGATCACAAGTT	0.448													A	47341845	G	A	47341845	2	1	104	1	0	0	0	0	0	0	0	1	16341	1048	37	1		1	TNS3	7	47341845	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1410299	47341845	111796818	3024	69638											
C7orf65	401335	broad.mit.edu	37	chr7	47698352	47698352	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccacacagctattcaccaaaGaggtaatatttgagttcagg	8	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:47698352G>T	uc010kyp.1	+	2	167	c.132G>T	c.(130-132)AAG>AAT	p.K44N		NM_001123065	NP_001116537	Q6ZTY9	CG065_HUMAN	hypothetical protein LOC401335	44											0						attcaccaaagaggtaatatt	0.1													T	47698352	G	T	47698352	3	4	104	1	0	0	0	0	1	0	0	0	2411	933	33	5	138	5	C7orf65	7	47698352	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	356507	47698352	111440311	3025	69639											
PKD1L1	168507	broad.mit.edu	37	chr7	47842892	47842892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgccaggaagatagacGcattttaatgtgaagaggaa	12	4	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:47842892G>A	uc003tny.1	-	53	7878	c.7878C>T	c.(7876-7878)TGC>TGT	p.C2626C	C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2626	Helical; (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GAAGATAGACGCATTTTAATG	0.502													A	47842892	G	A	47842892	2	1	104	1	0	0	0	0	0	0	0	1	11964	1079	38	1		1	PKD1L1	7	47842892	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	144540	47842892	111295771	3026	69640											
PKD1L1	168507	broad.mit.edu	37	chr7	47894612	47894612	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttatcccgaagtaatacaAatgtcgttttatttctccta	4	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:47894612A>C	uc003tny.1	-	30	4727	c.4727T>G	c.(4726-4728)TTT>TGT	p.F1576C		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1576	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						AAGTAATACAAATGTCGTTTT	0.348													C	47894612	A	C	47894612	3	2	104	1	0	0	0	0	1	0	0	0	11964	14	1	5	3934	5	PKD1L1	7	47894612	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	51720	47894612	111244051	3027	69641											
PKD1L1	168507	broad.mit.edu	37	chr7	47898276	47898276	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtgtgacttaccaacaAtaaatctgagatgactgtaa	7	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:47898276A>G	uc003tny.1	-	27	4357	c.4357T>C	c.(4357-4359)TTG>CTG	p.L1453L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1453	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						CTTACCAACAATAAATCTGAG	0.383													G	47898276	A	G	47898276	2	3	104	1	0	0	0	0	0	0	0	1	11964	98	4	3		3	PKD1L1	7	47898276	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	3664	47898276	111240387	3028	69642											
PKD1L1	168507	broad.mit.edu	37	chr7	47927693	47927693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catagcttgaagagagagttCgtcattccagttgacgaagg	12	7	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:47927693C>T	uc003tny.1	-	17	2731	c.2731G>A	c.(2731-2733)GAA>AAA	p.E911K		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	911	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						AGAGAGAGTTCGTCATTCCAG	0.393													T	47927693	C	T	47927693	3	4	104	1	0	0	0	0	1	0	0	0	11964	893	31	1	5982	1	PKD1L1	7	47927693	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	29417	47927693	111210970	3029	69643											
ABCA13	154664	broad.mit.edu	37	chr7	48269512	48269512	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtactgaatgtgaccatttcGacactgacatttctgcagca	8	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:48269512G>A	uc003toq.2	+	7	748	c.723G>A	c.(721-723)TCG>TCA	p.S241S	ABCA13_uc003top.2_3'UTR|ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	241					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TGACCATTTCGACACTGACAT	0.388													A	48269512	G	A	48269512	2	1	104	1	0	0	0	0	0	0	0	1	31	1045	37	1		1	ABCA13	7	48269512	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	341819	48269512	110869151	3030	69644											
ABCA13	154664	broad.mit.edu	37	chr7	48311639	48311639	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgccactgatgctcagaaActcttggaatttggcaacga	9	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:48311639A>C	uc003toq.2	+	17	2401	c.2376A>C	c.(2374-2376)AAA>AAC	p.K792N	ABCA13_uc010kyr.2_Missense_Mutation_p.K295N	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	792					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						ATGCTCAGAAACTCTTGGAAT	0.383													C	48311639	A	C	48311639	3	2	104	1	0	0	0	0	1	0	0	0	31	40	2	5	2271	5	ABCA13	7	48311639	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	42127	48311639	110827024	3031	69645											
ABCA13	154664	broad.mit.edu	37	chr7	48311803	48311803	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggcatttcaaaaggaaaaaGagctaaattggaaaacttct	8	5	2	1	rs117711958	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:48311803G>T	uc003toq.2	+	17	2565	c.2540G>T	c.(2539-2541)AGA>ATA	p.R847I	ABCA13_uc010kyr.2_Missense_Mutation_p.R350I	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	847					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AAAGGAAAAAGAGCTAAATTG	0.289													T	48311803	G	T	48311803	3	4	104	1	0	0	0	0	1	0	0	0	31	942	33	5	2435	5	ABCA13	7	48311803	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	164	48311803	110826860	3032	69646											
ABCA13	154664	broad.mit.edu	37	chr7	48315973	48315973	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttcaaataatgaattTcattaaccttatcttgaacc	3	9	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:48315973T>C	uc003toq.2	+	17	6735	c.6710T>C	c.(6709-6711)TTC>TCC	p.F2237S	ABCA13_uc010kyr.2_Missense_Mutation_p.F1740S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2237					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						ATAATGAATTTCATTAACCTT	0.328													C	48315973	T	C	48315973	3	2	104	1	0	0	0	0	1	0	0	0	31	1783	62	3	6605	3	ABCA13	7	48315973	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	4170	48315973	110822690	3033	69647											
ABCA13	154664	broad.mit.edu	37	chr7	48318153	48318153	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttatacttgctaatctaacGgatttgcttttctttataaa	5	6	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:48318153G>A	uc003toq.2	+	18	7387	c.7362G>A	c.(7360-7362)ACG>ACA	p.T2454T	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2454					transport	integral to membrane	ATP binding|ATPase activity	p.S2454I(1)		ovary(5)|central_nervous_system(4)|skin(1)	10						CTAATCTAACGGATTTGCTTT	0.348													A	48318153	G	A	48318153	2	1	104	1	0	0	0	0	0	0	0	1	31	1103	39	1		1	ABCA13	7	48318153	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2180	48318153	110820510	3034	69648											
ZPBP	11055	broad.mit.edu	37	chr7	49977177	49977177	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctattgcattgaaggcaatGaattccatcacgggggttat	11	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:49977177G>A	uc003tou.2	-	8	1073	c.1003C>T	c.(1003-1005)CAT>TAT	p.H335Y	ZPBP_uc011kci.1_Missense_Mutation_p.H261Y|ZPBP_uc010kyw.2_Missense_Mutation_p.H334Y	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein isoform 1	335					binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)					TGAAGGCAATGAATTCCATCA	0.328													A	49977177	G	A	49977177	3	1	104	1	0	0	0	0	1	0	0	0	18216	1290	45	4	56	4	ZPBP	7	49977177	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1659024	49977177	109161486	3035	69649											
ZPBP	11055	broad.mit.edu	37	chr7	50023074	50023074	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcacgtctgccaagaatTtctacttgttgattaaaaaa	6	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:50023074T>G	uc003tou.2	-	7	895	c.825A>C	c.(823-825)GAA>GAC	p.E275D	ZPBP_uc011kci.1_Missense_Mutation_p.E201D|ZPBP_uc010kyw.2_Missense_Mutation_p.E274D	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein isoform 1	275					binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)					TGCCAAGAATTTCTACTTGTT	0.303													G	50023074	T	G	50023074	3	3	104	1	0	0	0	0	1	0	0	0	18216	1838	64	5	238	5	ZPBP	7	50023074	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	45897	50023074	109115589	3036	69650											
POM121L12	285877	broad.mit.edu	37	chr7	53103453	53103453	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaaggccccgacgccctggCggctcccatgagcaggtcac	13	17	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:53103453C>A	uc003tpz.2	+	1	105	c.89C>A	c.(88-90)GCG>GAG	p.A30E		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	30											0						GACGCCCTGGCGGCTCCCATG	0.692													A	53103453	C	A	53103453	3	1	104	1	0	0	0	0	1	0	0	0	12241	768	27	5	91	5	POM121L12	7	53103453	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3080379	53103453	106035210	3037	69651											
EGFR	1956	broad.mit.edu	37	chr7	55221711	55221711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcctccataggtctgccGcaaattccgagacgaagcca	8	15	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:55221711G>A	uc003tqk.2	+	7	1001	c.755G>A	c.(754-756)CGC>CAC	p.R252H	EGFR_uc003tqh.2_Missense_Mutation_p.R252H|EGFR_uc003tqi.2_Missense_Mutation_p.R252H|EGFR_uc003tqj.2_Missense_Mutation_p.R252H|EGFR_uc010kzg.1_Missense_Mutation_p.R207H|EGFR_uc011kco.1_Missense_Mutation_p.R199H|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	252	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.R252C(1)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TAGGTCTGCCGCAAATTCCGA	0.587		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55221711	G	A	55221711	3	1	104	1	0	0	0	0	1	0	0	0	4967	1087	38	1	781	1	EGFR	7	55221711	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2118258	55221711	103916952	3038	69652											
SEPT14	346288	broad.mit.edu	37	chr7	55912390	55912390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaatgtgtctatcagtgtcGattttccaattccagtctcc	6	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:55912390G>A	uc003tqz.2	-	4	314	c.197C>T	c.(196-198)TCG>TTG	p.S66L		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	septin 14	66	GTP (By similarity).				cell cycle|cell division	septin complex	GTP binding|protein binding				0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TATCAGTGTCGATTTTCCAAT	0.358													A	55912390	G	A	55912390	3	1	104	1	0	0	0	0	1	0	0	0	14063	1059	37	1	1129	1	SEPT14	7	55912390	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	690679	55912390	103226273	3039	69653											
ZNF713	349075	broad.mit.edu	37	chr7	55990859	55990859	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgcttgatgtttcaggaatCactgacgtttcaggatgtgg	13	6	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:55990859C>A	uc003trc.1	+	2	91	c.53C>A	c.(52-54)TCA>TAA	p.S18*	ZNF713_uc003tra.1_Nonsense_Mutation_p.S31*|MRPS17_uc003trb.2_Nonsense_Mutation_p.S18*	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	zinc finger protein 713	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTTCAGGAATCACTGACGTTT	0.517													A	55990859	C	A	55990859	4	1	104	1	0	0	0	0	0	1	0	0	18114	838	29	5	59	5	ZNF713	7	55990859	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	78469	55990859	103147804	3040	69654											
GBAS	2631	broad.mit.edu	37	chr7	56045869	56045869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaagacagctggctaaaatCcttatttgtccggaaagttg	10	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:56045869C>T	uc003tre.1	+	2	151	c.143C>T	c.(142-144)TCC>TTC	p.S48F	GBAS_uc003trf.1_Missense_Mutation_p.S48F	NM_001483	NP_001474	O75323	NIPS2_HUMAN	nipsnap homolog 2	48						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			central_nervous_system(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGCTAAAATCCTTATTTGTC	0.408													T	56045869	C	T	56045869	3	4	104	1	0	0	0	0	1	0	0	0	6269	855	30	4	149	4	GBAS	7	56045869	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	55010	56045869	103092794	3041	69655											
ZNF479	90827	broad.mit.edu	37	chr7	57188256	57188256	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtctctctccagtatgaattCtcttgtggttagtaagtgct	9	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:57188256C>A	uc010kzo.2	-	5	1137	c.866G>T	c.(865-867)AGA>ATA	p.R289I		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	289	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTATGAATTCTCTTGTGGTT	0.453													A	57188256	C	A	57188256	3	1	104	1	0	0	0	0	1	0	0	0	17930	913	32	5	712	5	ZNF479	7	57188256	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1142387	57188256	101950407	3042	69656											
ZNF680	340252	broad.mit.edu	37	chr7	63982024	63982024	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctctccagtatgaatttTcttatgtctagtaaggtttg	7	6	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:63982024T>G	uc003tta.2	-	4	1281	c.1108A>C	c.(1108-1110)AAA>CAA	p.K370Q	ZNF680_uc010kzr.2_Missense_Mutation_p.K297Q	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	zinc finger protein 680 isoform 1	370	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.118)|all_lung(88;0.243)				GTATGAATTTTCTTATGTCTA	0.353													G	63982024	T	G	63982024	3	3	104	1	0	0	0	0	1	0	0	0	18084	1792	62	5	488	5	ZNF680	7	63982024	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	6793768	63982024	95156639	3043	69657											
ZNF107	51427	broad.mit.edu	37	chr7	64167547	64167547	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatatcctcaaaccttaatAaacaggagaaaattcatact	3	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:64167547A>G	uc003ttd.2	+	7	1651	c.865A>G	c.(865-867)AAA>GAA	p.K289E	ZNF107_uc003tte.2_Missense_Mutation_p.K289E	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	289	C2H2-type 8; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AAACCTTAATAAACAGGAGAA	0.343													G	64167547	A	G	64167547	3	3	104	1	0	0	0	0	1	0	0	0	17712	363	13	3	871	3	ZNF107	7	64167547	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	185523	64167547	94971116	3044	69658											
ZNF107	51427	broad.mit.edu	37	chr7	64167657	64167657	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagaaaattctaatggaagaGaaaccctacaaatgtgaaga	8	5	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:64167657G>T	uc003ttd.2	+	7	1761	c.975G>T	c.(973-975)GAG>GAT	p.E325D	ZNF107_uc003tte.2_Missense_Mutation_p.E325D	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TAATGGAAGAGAAACCCTACA	0.343													T	64167657	G	T	64167657	3	4	104	1	0	0	0	0	1	0	0	0	17712	933	33	5	981	5	ZNF107	7	64167657	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	110	64167657	94971006	3045	69659											
ZNF273	10793	broad.mit.edu	37	chr7	64389307	64389307	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaccttactcgacataagaAaattcatactggagagaaac	6	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:64389307A>C	uc003tto.2	+	4	1677	c.1601A>C	c.(1600-1602)AAA>ACA	p.K534T	ZNF273_uc003ttl.2_Missense_Mutation_p.K469T|ZNF273_uc003ttn.2_Missense_Mutation_p.K469T	NM_021148	NP_066971	Q14593	ZN273_HUMAN	zinc finger protein 273	534	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CGACATAAGAAAATTCATACT	0.373													C	64389307	A	C	64389307	3	2	104	1	0	0	0	0	1	0	0	0	17805	14	1	5	1615	5	ZNF273	7	64389307	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	221650	64389307	94749356	3046	69660											
ZNF117	51351	broad.mit.edu	37	chr7	64439395	64439395	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctcttcagtatgaattCtcttatgtctaataaggtgt	7	6	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:64439395C>A	uc003ttr.2	-	4	1839	c.554G>T	c.(553-555)AGA>ATA	p.R185I		NM_015852	NP_056936	Q03924	ZN117_HUMAN	zinc finger protein 117	185	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Lung NSC(55;0.0295)|all_lung(88;0.0691)				AGTATGAATTCTCTTATGTCT	0.353													A	64439395	C	A	64439395	3	1	104	1	0	0	0	0	1	0	0	0	17714	913	32	5	901	5	ZNF117	7	64439395	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	50088	64439395	94699268	3047	69661											
ZNF92	168374	broad.mit.edu	37	chr7	64852845	64852845	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catttagggatgtgaaaataGaattctctctagaggaatgg	11	4	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:64852845G>T	uc003ttz.2	+	2	177	c.34G>T	c.(34-36)GAA>TAA	p.E12*	ZNF92_uc003tua.2_Intron|ZNF92_uc010kzu.2_Nonsense_Mutation_p.E12*|ZNF92_uc003tub.2_Intron	NM_152626	NP_689839	Q03936	ZNF92_HUMAN	zinc finger protein 92 isoform 2	12	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(55;0.159)				TGTGAAAATAGAATTCTCTCT	0.353													T	64852845	G	T	64852845	4	4	104	1	0	0	0	0	0	1	0	0	18198	943	33	5	40	5	ZNF92	7	64852845	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	413450	64852845	94285818	3048	69662											
ZNF92	168374	broad.mit.edu	37	chr7	64864067	64864067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacaaatgtgaagaatgtgGcaaagcctttaaccagttct	8	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:64864067G>A	uc003ttz.2	+	4	1183	c.1040G>A	c.(1039-1041)GGC>GAC	p.G347D	ZNF92_uc003tua.2_Missense_Mutation_p.G278D|ZNF92_uc010kzu.2_Missense_Mutation_p.G315D|ZNF92_uc003tub.2_Missense_Mutation_p.G271D	NM_152626	NP_689839	Q03936	ZNF92_HUMAN	zinc finger protein 92 isoform 2	347	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(55;0.159)				GAAGAATGTGGCAAAGCCTTT	0.348													A	64864067	G	A	64864067	3	1	104	1	0	0	0	0	1	0	0	0	18198	1203	42	2	1054	2	ZNF92	7	64864067	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	11222	64864067	94274596	3049	69663											
ZNF92	168374	broad.mit.edu	37	chr7	64864785	64864785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaaagagaaactacaaacCtgaaagatgtgacaatgatt	7	6	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:64864785C>T	uc003ttz.2	+	4	1901	c.1758C>T	c.(1756-1758)ACC>ACT	p.T586T	ZNF92_uc003tua.2_Silent_p.T517T|ZNF92_uc010kzu.2_Silent_p.T554T|ZNF92_uc003tub.2_Silent_p.T510T	NM_152626	NP_689839	Q03936	ZNF92_HUMAN	zinc finger protein 92 isoform 2	586	C2H2-type 16; degenerate.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(55;0.159)				AACTACAAACCTGAAAGATGT	0.338													T	64864785	C	T	64864785	2	4	104	1	0	0	0	0	0	0	0	1	18198	668	24	4		4	ZNF92	7	64864785	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	718	64864785	94273878	3050	69664											
GUSB	2990	broad.mit.edu	37	chr7	65444478	65444478	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaccgctgcagtccagcgTagttgaaaaagtcaaaatat	9	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:65444478T>G	uc003tun.2	-	4	708	c.632A>C	c.(631-633)TAC>TCC	p.Y211S	GUSB_uc011kdt.1_Intron|GUSB_uc010kzw.1_Missense_Mutation_p.T40P	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	211					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0						CAGTCCAGCGTAGTTGAAAAA	0.537													G	65444478	T	G	65444478	3	3	104	1	0	0	0	0	1	0	0	0	6902	1638	57	5	1359	5	GUSB	7	65444478	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	579693	65444478	93694185	3051	69665											
AUTS2	26053	broad.mit.edu	37	chr7	70228040	70228040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagccaataccccagccGcagacggagccccaactccg	9	19	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:70228040G>A	uc003tvw.3	+	7	1670	c.927G>A	c.(925-927)CCG>CCA	p.P309P	AUTS2_uc003tvx.3_Silent_p.P309P	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	309										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TACCCCAGCCGCAGACGGAGC	0.612													A	70228040	G	A	70228040	2	1	104	1	0	0	0	0	0	0	0	1	1225	1074	38	1		1	AUTS2	7	70228040	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4783562	70228040	88910623	3052	69666											
AUTS2	26053	broad.mit.edu	37	chr7	70252212	70252212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacccaactcaatgttcGgccacaaggatggccccagt	9	15	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:70252212G>A	uc003tvw.3	+	18	3069	c.2326G>A	c.(2326-2328)GGC>AGC	p.G776S	AUTS2_uc003tvx.3_Missense_Mutation_p.G752S|AUTS2_uc011keg.1_Missense_Mutation_p.G228S	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	776										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CTCAATGTTCGGCCACAAGGA	0.493													A	70252212	G	A	70252212	3	1	104	1	0	0	0	0	1	0	0	0	1225	1116	39	1	2541	1	AUTS2	7	70252212	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	24172	70252212	88886451	3053	69667											
WBSCR17	64409	broad.mit.edu	37	chr7	71177108	71177108	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcacaggtcagaggtggAccattaagaactccatcaag	11	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:71177108A>G	uc003tvy.2	+	11	1774	c.1774A>G	c.(1774-1776)ACC>GCC	p.T592A	WBSCR17_uc003tvz.2_Missense_Mutation_p.T291A	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	592	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TCAGAGGTGGACCATTAAGAA	0.637													G	71177108	A	G	71177108	3	3	104	1	0	0	0	0	1	0	0	0	17261	275	10	3	1816	3	WBSCR17	7	71177108	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	924896	71177108	87961555	3054	69668											
BAZ1B	9031	broad.mit.edu	37	chr7	72863979	72863979	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agacaaaacaggtggaaggcTttattacactcatcacacaa	7	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:72863979T>G	uc003tyc.2	-	15	3966	c.3621A>C	c.(3619-3621)AAA>AAC	p.K1207N		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1207	PHD-type.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGTGGAAGGCTTTATTACACT	0.512													G	72863979	T	G	72863979	3	3	104	1	0	0	0	0	1	0	0	0	1330	1606	56	5	850	5	BAZ1B	7	72863979	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1686871	72863979	86274684	3055	69669											
MLXIPL	51085	broad.mit.edu	37	chr7	73008305	73008305	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccagctggcgtagggagtTcaggacagctgggtgggaga	19	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:73008305T>C	uc003tyn.1	-	17	2497	c.2449A>G	c.(2449-2451)AAC>GAC	p.N817D	MLXIPL_uc003tyj.1_Missense_Mutation_p.N196D|MLXIPL_uc003tyk.1_Missense_Mutation_p.N796D|MLXIPL_uc003tyl.1_Missense_Mutation_p.N815D|MLXIPL_uc003tym.1_Missense_Mutation_p.N798D|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_3'UTR	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	817					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGTAGGGAGTTCAGGACAGCT	0.602													C	73008305	T	C	73008305	3	2	104	1	0	0	0	0	1	0	0	0	9637	1783	62	3	113	3	MLXIPL	7	73008305	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	144326	73008305	86130358	3056	69670											
WBSCR28	135886	broad.mit.edu	37	chr7	73279635	73279635	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtctgtggccatctggacaGatctgtttttgtcatgtctg	11	8	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:73279635G>T	uc003tzk.2	+	2	421	c.385G>T	c.(385-387)GAT>TAT	p.D129Y	RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_Missense_Mutation_p.D28Y	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	hypothetical protein LOC135886	129						integral to membrane				breast(1)	1		Lung NSC(55;0.159)				CATCTGGACAGATCTGTTTTT	0.612													T	73279635	G	T	73279635	3	4	104	1	0	0	0	0	1	0	0	0	17264	942	33	5	391	5	WBSCR28	7	73279635	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	271330	73279635	85859028	3057	69671											
EIF4H	7458	broad.mit.edu	37	chr7	73604598	73604598	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatgggtagctctcgagaatCtagaggtggatgggattccc	14	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:73604598C>A	uc003uad.1	+	5	439	c.431C>A	c.(430-432)TCT>TAT	p.S144Y	RFC2_uc011kfa.1_Intron|EIF4H_uc011kfg.1_3'UTR|EIF4H_uc010lbm.2_Intron|EIF4H_uc003uae.1_Intron|EIF4H_uc003uaf.1_Intron|MIR590_hsa-mir-590|MI0003602_5'Flank	NM_022170	NP_071496	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	144	HHV-1 Vhs binding site.				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0						TCTCGAGAATCTAGAGGTGGA	0.413													A	73604598	C	A	73604598	3	1	104	1	0	0	0	0	1	0	0	0	5039	913	32	5	449	5	EIF4H	7	73604598	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	324963	73604598	85534065	3058	69672											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73960133	73960133	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagctgctcttcaacacaCgatacggtgagcaagaagtg	12	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:73960133C>T	uc003uaq.2	+	16	2119	c.1726C>T	c.(1726-1728)CGA>TGA	p.R576*	GTF2IRD1_uc010lbq.2_Nonsense_Mutation_p.R608*|GTF2IRD1_uc003uap.2_Nonsense_Mutation_p.R576*|GTF2IRD1_uc003uar.1_Nonsense_Mutation_p.R576*	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	576	GTF2I-like 3.					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						CTTCAACACACGATACGGTGA	0.622													T	73960133	C	T	73960133	4	4	104	1	0	0	0	0	0	1	0	0	6868	528	19	1	1784	1	GTF2IRD1	7	73960133	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	355535	73960133	85178530	3059	69673											
GTF2IRD1	9569	broad.mit.edu	37	chr7	74015485	74015485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taacccggattcagtggcatCggccaaccagatctcactcg	9	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:74015485C>T	uc003uaq.2	+	26	3182	c.2789C>T	c.(2788-2790)TCG>TTG	p.S930L	GTF2IRD1_uc010lbq.2_Missense_Mutation_p.S947L|GTF2IRD1_uc003uap.2_Missense_Mutation_p.S915L|GTF2IRD1_uc003uar.1_Missense_Mutation_p.S915L	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	930	Ser-rich.			Missing: Cytoplasmic localization.		nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						TCAGTGGCATCGGCCAACCAG	0.463													T	74015485	C	T	74015485	3	4	104	1	0	0	0	0	1	0	0	0	6868	893	31	1	2887	1	GTF2IRD1	7	74015485	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	55352	74015485	85123178	3060	69674											
POM121C	100101267	broad.mit.edu	37	chr7	75052307	75052307	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggttggaggtgccttggtgtCagtggctggtaccatggatg	18	6	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:75052307C>T	uc003udk.3	-	13	2113	c.1228G>A	c.(1228-1230)GAC>AAC	p.D410N		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	POM121 membrane glycoprotein (rat)-like	652	Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding				0						GCCTTGGTGTCAGTGGCTGGT	0.627													T	75052307	C	T	75052307	3	4	104	1	0	0	0	0	1	0	0	0	12240	826	29	4	1747	4	POM121C	7	75052307	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1036822	75052307	84086356	3061	69675											
CCDC146	57639	broad.mit.edu	37	chr7	76916866	76916866	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaaactcagggctgcaAgcaggacacactgctcttag	10	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:76916866A>C	uc003uga.2	+	17	2514	c.2387A>C	c.(2386-2388)AAG>ACG	p.K796T	CCDC146_uc010ldp.2_Missense_Mutation_p.K510T|CCDC146_uc003ugc.2_Missense_Mutation_p.K133T	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	796	Potential.									ovary(1)|central_nervous_system(1)	2		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				CAGGGCTGCAAGCAGGACACA	0.522													C	76916866	A	C	76916866	3	2	104	1	0	0	0	0	1	0	0	0	2780	72	3	5	2449	5	CCDC146	7	76916866	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1864559	76916866	82221797	3062	69676											
CCDC146	57639	broad.mit.edu	37	chr7	76922474	76922474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaatggttgaaagtccttcGagatgaagaaatgcacgcct	11	7	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:76922474G>A	uc003uga.2	+	18	2748	c.2621G>A	c.(2620-2622)CGA>CAA	p.R874Q	CCDC146_uc010ldp.2_Missense_Mutation_p.R588Q|CCDC146_uc003ugc.2_Missense_Mutation_p.R211Q	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	874										ovary(1)|central_nervous_system(1)	2		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AAAGTCCTTCGAGATGAAGAA	0.453													A	76922474	G	A	76922474	3	1	104	1	0	0	0	0	1	0	0	0	2780	1058	37	1	2687	1	CCDC146	7	76922474	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5608	76922474	82216189	3063	69677											
PTPN12	5782	broad.mit.edu	37	chr7	77268548	77268548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactgtaggttttggtaatcGatgtggaaaacccaaaggac	11	7	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:77268548G>A	uc003ugh.2	+	18	2385	c.2294G>A	c.(2293-2295)CGA>CAA	p.R765Q	PTPN12_uc011kgp.1_Missense_Mutation_p.R646Q|PTPN12_uc011kgq.1_Missense_Mutation_p.R635Q|PTPN12_uc010lds.2_Missense_Mutation_p.R497Q	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	765						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3						TTTGGTAATCGATGTGGAAAA	0.388													A	77268548	G	A	77268548	3	1	104	1	0	0	0	0	1	0	0	0	12781	1058	37	1	2364	1	PTPN12	7	77268548	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	346074	77268548	81870115	3064	69678											
TMEM60	85025	broad.mit.edu	37	chr7	77423307	77423307	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtcagtctctcacaaaaaaGacattatatccgagttctgt	6	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:77423307G>T	uc003ugn.2	-	2	611	c.384C>A	c.(382-384)GTC>GTA	p.V128V		NM_032936	NP_116325	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	128	Helical; (Potential).					integral to membrane					0						TCACAAAAAAGACATTATATC	0.383													T	77423307	G	T	77423307	2	4	104	1	0	0	0	0	0	0	0	1	16184	929	33	5		5	TMEM60	7	77423307	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	154759	77423307	81715356	3065	69679											
MAGI2	9863	broad.mit.edu	37	chr7	77789394	77789394	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagctgatgatgacaaagccGaagccctcattctctttgcg	10	11	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:77789394G>A	uc003ugx.2	-	16	3047	c.2793C>T	c.(2791-2793)TTC>TTT	p.F931F	MAGI2_uc003ugy.2_Silent_p.F917F|MAGI2_uc010ldx.1_Silent_p.F524F	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	931	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGACAAAGCCGAAGCCCTCAT	0.517													A	77789394	G	A	77789394	2	1	104	1	0	0	0	0	0	0	0	1	9191	1049	37	1		1	MAGI2	7	77789394	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	366087	77789394	81349269	3066	69680											
MAGI2	9863	broad.mit.edu	37	chr7	77789413	77789413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagccctcattctctttgCggtgaatgaccacatcactg	8	13	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:77789413C>T	uc003ugx.2	-	16	3028	c.2774G>A	c.(2773-2775)CGC>CAC	p.R925H	MAGI2_uc003ugy.2_Missense_Mutation_p.R911H|MAGI2_uc010ldx.1_Missense_Mutation_p.R518H	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	925	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATTCTCTTTGCGGTGAATGAC	0.532													T	77789413	C	T	77789413	3	4	104	1	0	0	0	0	1	0	0	0	9191	768	27	1	1621	1	MAGI2	7	77789413	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	19	77789413	81349250	3067	69681											
MAGI2	9863	broad.mit.edu	37	chr7	77830508	77830508	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttttccatggagaaaagaAacctgtaataaagaaaacaa	7	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:77830508A>C	uc003ugx.2	-	11	2304	c.2050T>G	c.(2050-2052)TTC>GTC	p.F684V	MAGI2_uc003ugy.2_Missense_Mutation_p.F684V|MAGI2_uc010ldx.1_Missense_Mutation_p.F293V|MAGI2_uc010ldy.1_Missense_Mutation_p.F293V	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	684						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGAGAAAAGAAACCTGTAATA	0.264													C	77830508	A	C	77830508	3	2	104	1	0	0	0	0	1	0	0	0	9191	14	1	5	2365	5	MAGI2	7	77830508	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	41095	77830508	81308155	3068	69682											
SEMA3C	10512	broad.mit.edu	37	chr7	80418725	80418725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaatacgaacaatcaaaggCcttttgtggattgggtagat	10	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:80418725C>T	uc003uhj.2	-	12	1813	c.1251G>A	c.(1249-1251)AGG>AGA	p.R417R	SEMA3C_uc011kgw.1_Silent_p.R435R	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C precursor	417	Sema.				immune response|response to drug	membrane	receptor activity			ovary(1)	1						CAATCAAAGGCCTTTTGTGGA	0.448													T	80418725	C	T	80418725	2	4	104	1	0	0	0	0	0	0	0	1	14026	738	26	2		2	SEMA3C	7	80418725	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2588217	80418725	78719938	3069	69683											
PCLO	27445	broad.mit.edu	37	chr7	82390067	82390067	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgatcacctttttttgggtaGaaatattcatcacatatatt	5	6	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:82390067G>T	uc003uhx.2	-	24	15465	c.15176C>A	c.(15175-15177)TCT>TAT	p.S5059Y		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4982	C2 2.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TTTTTGGGTAGAAATATTCAT	0.299													T	82390067	G	T	82390067	3	4	104	1	0	0	0	0	1	0	0	0	11583	942	33	5	260	5	PCLO	7	82390067	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1971342	82390067	76748596	3070	69684											
PCLO	27445	broad.mit.edu	37	chr7	82578855	82578855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctgttggactcagaggCttggggtcagacatagaacg	14	8	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:82578855C>T	uc003uhx.2	-	6	11338	c.11049G>A	c.(11047-11049)AAG>AAA	p.K3683K	PCLO_uc003uhv.2_Silent_p.K3683K|PCLO_uc010lec.2_Silent_p.K648K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3614					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GACTCAGAGGCTTGGGGTCAG	0.473													T	82578855	C	T	82578855	2	4	104	1	0	0	0	0	0	0	0	1	11583	796	28	2		2	PCLO	7	82578855	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	188788	82578855	76559808	3071	69685											
PCLO	27445	broad.mit.edu	37	chr7	82579967	82579967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttatactggtagatctgccGaatcttttgctcctccagct	8	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:82579967G>A	uc003uhx.2	-	6	10226	c.9937C>T	c.(9937-9939)CGG>TGG	p.R3313W	PCLO_uc003uhv.2_Missense_Mutation_p.R3313W|PCLO_uc010lec.2_Missense_Mutation_p.R278W	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3244	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TAGATCTGCCGAATCTTTTGC	0.493													A	82579967	G	A	82579967	3	1	104	1	0	0	0	0	1	0	0	0	11583	1057	37	1	5588	1	PCLO	7	82579967	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1112	82579967	76558696	3072	69686											
PCLO	27445	broad.mit.edu	37	chr7	82583601	82583601	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgatgaagaaatttcctcaGaatcttcaaatttagttatc	5	6	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:82583601G>A	uc003uhx.2	-	5	6957	c.6668C>T	c.(6667-6669)TCT>TTT	p.S2223F	PCLO_uc003uhv.2_Missense_Mutation_p.S2223F|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2154					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AATTTCCTCAGAATCTTCAAA	0.403													A	82583601	G	A	82583601	3	1	104	1	0	0	0	0	1	0	0	0	11583	942	33	4	8861	4	PCLO	7	82583601	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3634	82583601	76555062	3073	69687											
PCLO	27445	broad.mit.edu	37	chr7	82764042	82764042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggaaattaaatttgatgCctggctgaagattgatgctc	11	5	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:82764042C>T	uc003uhx.2	-	3	3113	c.2824G>A	c.(2824-2826)GCA>ACA	p.A942T	PCLO_uc003uhv.2_Missense_Mutation_p.A942T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	888	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AAATTTGATGCCTGGCTGAAG	0.512													T	82764042	C	T	82764042	3	4	104	1	0	0	0	0	1	0	0	0	11583	739	26	2	12713	2	PCLO	7	82764042	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	180441	82764042	76374621	3074	69688											
PCLO	27445	broad.mit.edu	37	chr7	82764221	82764221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtttggccagcggtaggtCgtgggccagggggtgttggt	20	7	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:82764221C>T	uc003uhx.2	-	3	2934	c.2645G>A	c.(2644-2646)CGA>CAA	p.R882Q	PCLO_uc003uhv.2_Missense_Mutation_p.R882Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	828	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AGCGGTAGGTCGTGGGCCAGG	0.517													T	82764221	C	T	82764221	3	4	104	1	0	0	0	0	1	0	0	0	11583	884	31	1	12892	1	PCLO	7	82764221	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	179	82764221	76374442	3075	69689											
SEMA3E	9723	broad.mit.edu	37	chr7	83032082	83032082	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacacatatagcatgccctcGaaaaatattactgaaaaata	5	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:83032082G>A	uc003uhy.1	-	10	1475	c.1009C>T	c.(1009-1011)CGA>TGA	p.R337*		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	337	Sema.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				GCATGCCCTCGAAAAATATTA	0.403													A	83032082	G	A	83032082	4	1	104	1	0	0	0	0	0	1	0	0	14028	1066	37	1	1350	1	SEMA3E	7	83032082	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	267861	83032082	76106581	3076	69690											
SEMA3A	10371	broad.mit.edu	37	chr7	83606510	83606510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatatcttgtcgtcttgtgCgtctgaagcaattacattta	7	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:83606510C>T	uc003uhz.2	-	15	1970	c.1655G>A	c.(1654-1656)CGC>CAC	p.R552H		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	552					axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						TCGTCTTGTGCGTCTGAAGCA	0.328													T	83606510	C	T	83606510	3	4	104	1	0	0	0	0	1	0	0	0	14024	768	27	1	672	1	SEMA3A	7	83606510	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	574428	83606510	75532153	3077	69691											
SEMA3A	10371	broad.mit.edu	37	chr7	83764139	83764139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccttgatattaaccaggtCgaatgaaaatatgtgatcct	7	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:83764139C>T	uc003uhz.2	-	2	556	c.241G>A	c.(241-243)GAC>AAC	p.D81N		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	81	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						TTAACCAGGTCGAATGAAAAT	0.358													T	83764139	C	T	83764139	3	4	104	1	0	0	0	0	1	0	0	0	14024	884	31	1	2138	1	SEMA3A	7	83764139	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	157629	83764139	75374524	3078	69692											
GRM3	2913	broad.mit.edu	37	chr7	86416107	86416107	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcccagcctgtccgccagttCgaccgctacttccagagcct	8	18	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:86416107C>T	uc003uid.2	+	3	2098	c.999C>T	c.(997-999)TTC>TTT	p.F333F	GRM3_uc010lef.2_Silent_p.F331F|GRM3_uc010leg.2_Silent_p.F205F|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	333	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCCGCCAGTTCGACCGCTACT	0.627													T	86416107	C	T	86416107	2	4	104	1	0	0	0	0	0	0	0	1	6798	883	31	1		1	GRM3	7	86416107	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2651968	86416107	72722556	3079	69693											
GRM3	2913	broad.mit.edu	37	chr7	86468223	86468223	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttggagatggaatggggCgatacaacgtgttcaatttc	12	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:86468223C>T	uc003uid.2	+	4	2492	c.1393C>T	c.(1393-1395)CGA>TGA	p.R465*	GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Nonsense_Mutation_p.R337*|GRM3_uc010leh.2_Nonsense_Mutation_p.R57*	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	465	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGGAATGGGGCGATACAACGT	0.383													T	86468223	C	T	86468223	4	4	104	1	0	0	0	0	0	1	0	0	6798	760	27	1	1403	1	GRM3	7	86468223	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	52116	86468223	72670440	3080	69694											
KIAA1324L	222223	broad.mit.edu	37	chr7	86521160	86521160	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagccgggagttcacactcTtttgagttagtcgtcattac	10	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:86521160T>G	uc011kha.1	-	21	3095	c.2910A>C	c.(2908-2910)AAA>AAC	p.K970N	KIAA1324L_uc003uif.1_Missense_Mutation_p.K730N|KIAA1324L_uc011kgz.1_Missense_Mutation_p.K856N|KIAA1324L_uc003uie.2_Missense_Mutation_p.K803N	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	970	Cytoplasmic (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)					GTTCACACTCTTTTGAGTTAG	0.318													G	86521160	T	G	86521160	3	3	104	1	0	0	0	0	1	0	0	0	8224	1606	56	5	187	5	KIAA1324L	7	86521160	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	52937	86521160	72617503	3081	69695											
CROT	54677	broad.mit.edu	37	chr7	87005144	87005144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatctccttgccctttagGcacgagaatatctgattggt	8	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:87005144G>A	uc003uit.2	+	9	996	c.751G>A	c.(751-753)GCA>ACA	p.A251T	CROT_uc003uiu.2_Missense_Mutation_p.A279T	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN	peroxisomal carnitine O-octanoyltransferase	251					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			ovary(2)|lung(1)	3	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TGCCCTTTAGGCACGAGAATA	0.353													A	87005144	G	A	87005144	3	1	104	1	0	0	0	0	1	0	0	0	3894	1217	42	2	865	2	CROT	7	87005144	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	483984	87005144	72133519	3082	69696											
CROT	54677	broad.mit.edu	37	chr7	87020970	87020970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggccgtacagagactatgcGatcatgcacagttgaagcag	12	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:87020970G>A	uc003uit.2	+	14	1612	c.1367G>A	c.(1366-1368)CGA>CAA	p.R456Q	CROT_uc003uiu.2_Missense_Mutation_p.R484Q	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN	peroxisomal carnitine O-octanoyltransferase	456					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			ovary(2)|lung(1)	3	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GAGACTATGCGATCATGCACA	0.388													A	87020970	G	A	87020970	3	1	104	1	0	0	0	0	1	0	0	0	3894	1058	37	1	1501	1	CROT	7	87020970	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	15826	87020970	72117693	3083	69697											
ABCB4	5244	broad.mit.edu	37	chr7	87092105	87092105	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtttcctgcagtatcaacAaatttgtcagtcatctctcc	5	11	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:87092105A>C	uc003uiv.1	-	4	331	c.255T>G	c.(253-255)TTT>TTG	p.F85L	ABCB4_uc003uiw.1_Missense_Mutation_p.F85L|ABCB4_uc003uix.1_Missense_Mutation_p.F85L|ABCB4_uc003uiy.2_Missense_Mutation_p.F85L	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	85	Extracellular (By similarity).|ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CAGTATCAACAAATTTGTCAG	0.388													C	87092105	A	C	87092105	3	2	104	1	0	0	0	0	1	0	0	0	43	127	5	5	3705	5	ABCB4	7	87092105	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	71135	87092105	72046558	3084	69698											
ABCB1	5243	broad.mit.edu	37	chr7	87144576	87144576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaaggggtcgtagaaccGctccaggagctggaccactg	14	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:87144576G>A	uc003uiz.1	-	26	3671	c.3253C>T	c.(3253-3255)CGG>TGG	p.R1085W	ABCB1_uc011khc.1_Missense_Mutation_p.R1021W	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	1085	Cytoplasmic (Potential).|ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.R1085W(1)		ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TCGTAGAACCGCTCCAGGAGC	0.527													A	87144576	G	A	87144576	3	1	104	1	0	0	0	0	1	0	0	0	40	1086	38	1	605	1	ABCB1	7	87144576	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	52471	87144576	71994087	3085	69699											
ABCB1	5243	broad.mit.edu	37	chr7	87150189	87150189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttctattgcttcagtagCgatctgtaacagacagcacc	8	10	3	1	rs147487745		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:87150189C>T	uc003uiz.1	-	23	3107	c.2689G>A	c.(2689-2691)GCT>ACT	p.A897T	ABCB1_uc011khc.1_Missense_Mutation_p.A833T	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	897	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GCTTCAGTAGCGATCTGTAAC	0.368													T	87150189	C	T	87150189	3	4	104	1	0	0	0	0	1	0	0	0	40	768	27	1	1181	1	ABCB1	7	87150189	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5613	87150189	71988474	3086	69700											
ABCB1	5243	broad.mit.edu	37	chr7	87178674	87178674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcactgaccttatccagaGccacctgaaccactgcttcg	6	17	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:87178674G>A	uc003uiz.1	-	15	2133	c.1715C>T	c.(1714-1716)GCT>GTT	p.A572V	ABCB1_uc011khc.1_Missense_Mutation_p.A508V	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	572	ABC transporter 1.|Cytoplasmic (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTTATCCAGAGCCACCTGAAC	0.463													A	87178674	G	A	87178674	3	1	104	1	0	0	0	0	1	0	0	0	40	971	34	2	2187	2	ABCB1	7	87178674	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	28485	87178674	71959989	3087	69701											
RUNDC3B	154661	broad.mit.edu	37	chr7	87436797	87436797	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgctgttgccttggatAcgttgctttaccgaaaacac	8	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:87436797A>G	uc003ujb.2	+	10	1528	c.1117A>G	c.(1117-1119)ACG>GCG	p.T373A	RUNDC3B_uc011khd.1_Missense_Mutation_p.T356A|RUNDC3B_uc011khe.1_Missense_Mutation_p.T356A|RUNDC3B_uc003ujc.2_Intron|RUNDC3B_uc003ujd.2_Intron	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	373										skin(1)	1	Esophageal squamous(14;0.00164)					TGCCTTGGATACGTTGCTTTA	0.378													G	87436797	A	G	87436797	3	3	104	1	0	0	0	0	1	0	0	0	13745	391	14	3	1155	3	RUNDC3B	7	87436797	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	258123	87436797	71701866	3088	69702											
RUNDC3B	154661	broad.mit.edu	37	chr7	87459269	87459269	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggcaagttacaagtctcTaacaagcttaaaatctaatg	7	7	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:87459269T>G	uc003ujb.2	+	12	1757	c.1346T>G	c.(1345-1347)CTA>CGA	p.L449R	RUNDC3B_uc011khe.1_Missense_Mutation_p.L432R|RUNDC3B_uc003ujc.2_Missense_Mutation_p.L383R|RUNDC3B_uc003ujd.2_Missense_Mutation_p.L305R	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	449										skin(1)	1	Esophageal squamous(14;0.00164)					TACAAGTCTCTAACAAGCTTA	0.373													G	87459269	T	G	87459269	3	3	104	1	0	0	0	0	1	0	0	0	13745	1522	53	5	1392	5	RUNDC3B	7	87459269	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	22472	87459269	71679394	3089	69703											
ADAM22	53616	broad.mit.edu	37	chr7	87759747	87759747	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtacataccaatacctatgcGaaatctgtggtgaacatggc	9	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:87759747G>A	uc003ujn.2	+	10	877	c.798G>A	c.(796-798)GCG>GCA	p.A266A	ADAM22_uc003ujj.1_Silent_p.A266A|ADAM22_uc003ujk.1_Silent_p.A266A|ADAM22_uc003ujl.1_Silent_p.A266A|ADAM22_uc003ujm.2_Silent_p.A266A|ADAM22_uc003ujo.2_Silent_p.A266A|ADAM22_uc003ujp.1_Silent_p.A318A	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	266	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ATACCTATGCGAAATCTGTGG	0.353													A	87759747	G	A	87759747	2	1	104	1	0	0	0	0	0	0	0	1	244	1045	37	1		1	ADAM22	7	87759747	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	300478	87759747	71378916	3090	69704											
ADAM22	53616	broad.mit.edu	37	chr7	87811315	87811315	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatcagaggcaaaagatTtagacctcggtctaattcaa	8	7	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:87811315T>G	uc003ujn.2	+	29	2631	c.2552T>G	c.(2551-2553)TTT>TGT	p.F851C	ADAM22_uc003ujk.1_Missense_Mutation_p.F851C|ADAM22_uc003ujl.1_Missense_Mutation_p.F815C|ADAM22_uc003ujm.2_Missense_Mutation_p.F815C|ADAM22_uc003ujo.2_Missense_Mutation_p.F815C|ADAM22_uc003ujp.1_Missense_Mutation_p.F903C	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	851	Cytoplasmic (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GGCAAAAGATTTAGACCTCGG	0.383													G	87811315	T	G	87811315	3	3	104	1	0	0	0	0	1	0	0	0	244	1841	64	5	2666	5	ADAM22	7	87811315	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	51568	87811315	71327348	3091	69705											
SRI	6717	broad.mit.edu	37	chr7	87840206	87840206	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaggatacatccagcatTgaaaccataagccggcaagt	9	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:87840206T>C	uc003ujq.1	-	4	292	c.240A>G	c.(238-240)TCA>TCG	p.S80S	SRI_uc011khg.1_Silent_p.S80S|SRI_uc003ujr.1_Silent_p.S65S|SRI_uc011khh.1_Silent_p.S65S|SRI_uc010lej.1_Silent_p.S80S	NM_003130	NP_003121	P30626	SORCN_HUMAN	sorcin isoform a	80	EF-hand 2.				heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding			upper_aerodigestive_tract(1)	1	Esophageal squamous(14;0.00202)					CATCCAGCATTGAAACCATAA	0.294													C	87840206	T	C	87840206	2	2	104	1	0	0	0	0	0	0	0	1	15148	1799	63	3		3	SRI	7	87840206	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	28891	87840206	71298457	3092	69706											
STEAP4	79689	broad.mit.edu	37	chr7	87912071	87912071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctaccaagccaagctgctttCggcaaagcatccagtggtca	9	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:87912071C>T	uc003ujs.2	-	3	974	c.869G>A	c.(868-870)CGA>CAA	p.R290Q	STEAP4_uc010lek.2_Intron|STEAP4_uc003ujt.2_Missense_Mutation_p.R290Q	NM_024636	NP_078912	Q687X5	STEA4_HUMAN	tumor necrosis factor, alpha-induced protein 9	290	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	Esophageal squamous(14;0.00802)					AAGCTGCTTTCGGCAAAGCAT	0.473													T	87912071	C	T	87912071	3	4	104	1	0	0	0	0	1	0	0	0	15279	884	31	1	522	1	STEAP4	7	87912071	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	71865	87912071	71226592	3093	69707											
ZNF804B	219578	broad.mit.edu	37	chr7	88962747	88962747	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcaactccagcaaggaattTtccccattaagaatggcaga	8	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:88962747T>A	uc011khi.1	+	4	989	c.451T>A	c.(451-453)TTC>ATC	p.F151I		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	151						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GCAAGGAATTTTCCCCATTAA	0.398										HNSCC(36;0.09)			A	88962747	T	A	88962747	3	1	104	1	0	0	0	0	1	0	0	0	18168	1841	64	5	465	5	ZNF804B	7	88962747	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1050676	88962747	70175916	3094	69708											
ZNF804B	219578	broad.mit.edu	37	chr7	88964416	88964416	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccacagtcatgtttgagtaGatattcttcctctttggaca	7	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:88964416G>T	uc011khi.1	+	4	2658	c.2120G>T	c.(2119-2121)AGA>ATA	p.R707I		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	707						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGTTTGAGTAGATATTCTTCC	0.408										HNSCC(36;0.09)			T	88964416	G	T	88964416	3	4	104	1	0	0	0	0	1	0	0	0	18168	942	33	5	2134	5	ZNF804B	7	88964416	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1669	88964416	70174247	3095	69709											
ZNF804B	219578	broad.mit.edu	37	chr7	88965794	88965794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctacagctacaagcccaGcagcatatgcagaagcaact	7	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:88965794G>A	uc011khi.1	+	4	4036	c.3498G>A	c.(3496-3498)CAG>CAA	p.Q1166Q		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1166						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TACAAGCCCAGCAGCATATGC	0.448										HNSCC(36;0.09)			A	88965794	G	A	88965794	2	1	104	1	0	0	0	0	0	0	0	1	18168	962	34	2		2	ZNF804B	7	88965794	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1378	88965794	70172869	3096	69710											
ZNF804B	219578	broad.mit.edu	37	chr7	88966008	88966008	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctattgctcatctacatcctCtttcacaggcacatttcagt	4	13	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:88966008C>A	uc011khi.1	+	4	4250	c.3712C>A	c.(3712-3714)CTT>ATT	p.L1238I		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1238						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCTACATCCTCTTTCACAGGC	0.458										HNSCC(36;0.09)			A	88966008	C	A	88966008	3	1	104	1	0	0	0	0	1	0	0	0	18168	913	32	5	3726	5	ZNF804B	7	88966008	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	214	88966008	70172655	3097	69711											
STEAP1	26872	broad.mit.edu	37	chr7	89790273	89790273	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaattaaaatagctgctaTtatagcatctctgacttttc	5	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:89790273T>G	uc003ujx.2	+	3	439	c.239T>G	c.(238-240)ATT>AGT	p.I80S	STEAP1_uc010lem.2_Missense_Mutation_p.I80S	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the	80	Helical; (Potential).				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	all_hematologic(106;0.112)					ATAGCTGCTATTATAGCATCT	0.403													G	89790273	T	G	89790273	3	3	104	1	0	0	0	0	1	0	0	0	15276	1493	52	5	245	5	STEAP1	7	89790273	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	824265	89790273	69348390	3098	69712											
AKAP9	10142	broad.mit.edu	37	chr7	91632062	91632062	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaacagaactcatggaaaAacttgaggtaaccaagcgag	9	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:91632062A>C	uc003ulg.2	+	8	3056	c.2831A>C	c.(2830-2832)AAA>ACA	p.K944T	AKAP9_uc003ule.2_Missense_Mutation_p.K956T|AKAP9_uc003ulf.2_Missense_Mutation_p.K944T|AKAP9_uc003uli.2_Missense_Mutation_p.K569T	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	956	Glu-rich.|Potential.			K -> N (in Ref. 3; BAA78718).	G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTCATGGAAAAACTTGAGGTA	0.353			T	BRAF	papillary thyroid								C	91632062	A	C	91632062	3	2	104	1	0	0	0	0	1	0	0	0	459	14	1	5	2861	5	AKAP9	7	91632062	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1841789	91632062	67506601	3099	69713											
AKAP9	10142	broad.mit.edu	37	chr7	91672072	91672072	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagatgtgcctcctgagattTtgtctaatgaaaggtataca	9	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:91672072T>G	uc003ulg.2	+	20	5374	c.5149T>G	c.(5149-5151)TTG>GTG	p.L1717V	AKAP9_uc003ulf.2_Missense_Mutation_p.L1717V|AKAP9_uc003uli.2_Missense_Mutation_p.L1342V	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1729					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCCTGAGATTTTGTCTAATGA	0.299			T	BRAF	papillary thyroid								G	91672072	T	G	91672072	3	3	104	1	0	0	0	0	1	0	0	0	459	1838	64	5	5227	5	AKAP9	7	91672072	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	40010	91672072	67466591	3100	69714											
AKAP9	10142	broad.mit.edu	37	chr7	91699510	91699510	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttcttgtgagtgcagataCttttcaaaaggtgtggcatt	11	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:91699510C>A	uc003ulg.2	+	27	6722	c.6497C>A	c.(6496-6498)ACT>AAT	p.T2166N	AKAP9_uc003ulf.2_Intron|AKAP9_uc003uli.2_Missense_Mutation_p.T1789N|AKAP9_uc003ulj.2_Intron	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2178	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGTGCAGATACTTTTCAAAAG	0.348			T	BRAF	papillary thyroid								A	91699510	C	A	91699510	3	1	104	1	0	0	0	0	1	0	0	0	459	565	20	5	6603	5	AKAP9	7	91699510	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	27438	91699510	67439153	3101	69715											
AKAP9	10142	broad.mit.edu	37	chr7	91707053	91707053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccataaaggaatctgatgCcatgtctactcaagaccaac	7	11	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:91707053C>T	uc003ulg.2	+	30	7034	c.6809C>T	c.(6808-6810)GCC>GTC	p.A2270V	AKAP9_uc003ulf.2_Missense_Mutation_p.A2262V|AKAP9_uc003uli.2_Missense_Mutation_p.A1893V|AKAP9_uc003ulj.2_Missense_Mutation_p.A40V	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2282	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAATCTGATGCCATGTCTACT	0.343			T	BRAF	papillary thyroid								T	91707053	C	T	91707053	3	4	104	1	0	0	0	0	1	0	0	0	459	739	26	2	6927	2	AKAP9	7	91707053	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7543	91707053	67431610	3102	69716											
AKAP9	10142	broad.mit.edu	37	chr7	91708440	91708440	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggatcttgaaacccaaatAgaatgtttgatgagtgatca	10	5	2	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:91708440A>G	uc003ulg.2	+	31	7218	c.6993A>G	c.(6991-6993)ATA>ATG	p.I2331M	AKAP9_uc003ulf.2_Missense_Mutation_p.I2323M|AKAP9_uc003uli.2_Missense_Mutation_p.I1954M|AKAP9_uc003ulj.2_Missense_Mutation_p.I101M	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2343	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAACCCAAATAGAATGTTTGA	0.289			T	BRAF	papillary thyroid								G	91708440	A	G	91708440	3	3	104	1	0	0	0	0	1	0	0	0	459	410	15	3	7115	3	AKAP9	7	91708440	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1387	91708440	67430223	3103	69717											
PEX1	5189	broad.mit.edu	37	chr7	92143246	92143246	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcctgactacggcatgcatTtctatatttagtctcttcct	5	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:92143246T>G	uc003uly.2	-	6	1371	c.1275A>C	c.(1273-1275)GAA>GAC	p.E425D	PEX1_uc011khr.1_Missense_Mutation_p.E217D|PEX1_uc010ley.2_Missense_Mutation_p.E425D|PEX1_uc011khs.1_Missense_Mutation_p.E103D|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	425					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CGGCATGCATTTCTATATTTA	0.303													G	92143246	T	G	92143246	3	3	104	1	0	0	0	0	1	0	0	0	11735	1838	64	5	2652	5	PEX1	7	92143246	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	434806	92143246	66995417	3104	69718											
CDK6	1021	broad.mit.edu	37	chr7	92247479	92247479	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagcctgcctgggaagggcAacatctctaggccagtcttc	11	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:92247479A>C	uc011khw.1	-	7	1153	c.741T>G	c.(739-741)GTT>GTG	p.V247V	CDK6_uc010lez.2_Silent_p.V247V	NM_001259	NP_001250	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	247	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|skin(1)	2	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TGGGAAGGGCAACATCTCTAG	0.438			T	MLLT10	ALL								C	92247479	A	C	92247479	2	2	104	1	0	0	0	0	0	0	0	1	3148	117	5	5		5	CDK6	7	92247479	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	104233	92247479	66891184	3105	69719											
SAMD9L	219285	broad.mit.edu	37	chr7	92762803	92762803	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccaatgttttttcatatcGcaaatccttttctgctaaaa	3	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:92762803G>A	uc003umh.1	-	5	3698	c.2482C>T	c.(2482-2484)CGA>TGA	p.R828*	SAMD9L_uc003umj.1_Nonsense_Mutation_p.R828*|SAMD9L_uc003umi.1_Nonsense_Mutation_p.R828*|SAMD9L_uc010lfb.1_Nonsense_Mutation_p.R828*|SAMD9L_uc003umk.1_Nonsense_Mutation_p.R828*|SAMD9L_uc010lfc.1_Nonsense_Mutation_p.R828*|SAMD9L_uc010lfd.1_Nonsense_Mutation_p.R828*|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	828										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTCATATCGCAAATCCTTT	0.358													A	92762803	G	A	92762803	4	1	104	1	0	0	0	0	0	1	0	0	13827	1095	38	1	2276	1	SAMD9L	7	92762803	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	515324	92762803	66375860	3106	69720											
SAMD9L	219285	broad.mit.edu	37	chr7	92762825	92762825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatccttttctgctaaaacGgaatggatggcattttgtag	9	6	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:92762825G>A	uc003umh.1	-	5	3676	c.2460C>T	c.(2458-2460)TCC>TCT	p.S820S	SAMD9L_uc003umj.1_Silent_p.S820S|SAMD9L_uc003umi.1_Silent_p.S820S|SAMD9L_uc010lfb.1_Silent_p.S820S|SAMD9L_uc003umk.1_Silent_p.S820S|SAMD9L_uc010lfc.1_Silent_p.S820S|SAMD9L_uc010lfd.1_Silent_p.S820S|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	820										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGCTAAAACGGAATGGATGG	0.378													A	92762825	G	A	92762825	2	1	104	1	0	0	0	0	0	0	0	1	13827	1103	39	1		1	SAMD9L	7	92762825	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	22	92762825	66375838	3107	69721											
CCDC132	55610	broad.mit.edu	37	chr7	92923915	92923915	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatcgtggctacataaaaaaGaaattagaacatggacttac	8	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:92923915G>T	uc003umo.2	+	14	1262	c.1134G>T	c.(1132-1134)AAG>AAT	p.K378N	CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.K348N|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.K98N	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132 isoform a	378											0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ACATAAAAAAGAAATTAGAAC	0.264													T	92923915	G	T	92923915	3	4	104	1	0	0	0	0	1	0	0	0	2767	933	33	5	1230	5	CCDC132	7	92923915	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	161090	92923915	66214748	3108	69722											
COL1A2	1278	broad.mit.edu	37	chr7	94043236	94043236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggaaaaggtgaacagggtCcccctggtcctccaggcttc	13	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:94043236C>T	uc003ung.1	+	28	2113	c.1642C>T	c.(1642-1644)CCC>TCC	p.P548S	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	548					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGAACAGGGTCCCCCTGGTCC	0.448										HNSCC(75;0.22)			T	94043236	C	T	94043236	3	4	104	1	0	0	0	0	1	0	0	0	3678	855	30	4	1752	4	COL1A2	7	94043236	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1119321	94043236	65095427	3109	69723											
COL1A2	1278	broad.mit.edu	37	chr7	94057135	94057135	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccttcttactcctgaaggctCtagaaagaacccagctcgca	7	14	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:94057135C>A	uc003ung.1	+	49	3935	c.3464C>A	c.(3463-3465)TCT>TAT	p.S1155Y	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1155	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCTGAAGGCTCTAGAAAGAAC	0.522										HNSCC(75;0.22)			A	94057135	C	A	94057135	3	1	104	1	0	0	0	0	1	0	0	0	3678	913	32	5	3658	5	COL1A2	7	94057135	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	13899	94057135	65081528	3110	69724											
PEG10	23089	broad.mit.edu	37	chr7	94293682	94293682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accaccaggtagatccaaccGagccggtgggaggtgcccgc	14	14	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:94293682G>A	uc011kie.1	+	2	1259	c.1042G>A	c.(1042-1044)GAG>AAG	p.E348K		NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	paternally expressed 10 isoform RF1	272	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AGATCCAACCGAGCCGGTGGG	0.622													A	94293682	G	A	94293682	3	1	104	1	0	0	0	0	1	0	0	0	11719	1059	37	1	1048	1	PEG10	7	94293682	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	236547	94293682	64844981	3111	69725											
PPP1R9A	55607	broad.mit.edu	37	chr7	94540365	94540365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catctaatcaacagactcccGacagcattgacaaagatggt	7	11	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:94540365G>A	uc003unp.2	+	2	1222	c.940G>A	c.(940-942)GAC>AAC	p.D314N	PPP1R9A_uc010lfj.2_Missense_Mutation_p.D314N|PPP1R9A_uc011kif.1_Missense_Mutation_p.D314N|PPP1R9A_uc003unq.2_Missense_Mutation_p.D314N|PPP1R9A_uc011kig.1_Missense_Mutation_p.D314N	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	314						cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ACAGACTCCCGACAGCATTGA	0.473										HNSCC(28;0.073)			A	94540365	G	A	94540365	3	1	104	1	0	0	0	0	1	0	0	0	12378	1058	37	1	942	1	PPP1R9A	7	94540365	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	246683	94540365	64598298	3112	69726											
PON3	5446	broad.mit.edu	37	chr7	95001600	95001600	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagatccatcaagaagatTtttcctggttcatctggcgc	8	10	4	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:95001600T>G	uc003unt.2	-	4	277	c.252A>C	c.(250-252)AAA>AAC	p.K84N	PON1_uc011kih.1_Intron|PON3_uc011kii.1_Missense_Mutation_p.K132N	NM_000940	NP_000931	Q15166	PON3_HUMAN	paraoxonase 3	84					aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus	extracellular space	aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity			ovary(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			TCAAGAAGATTTTTCCTGGTT	0.363													G	95001600	T	G	95001600	3	3	104	1	0	0	0	0	1	0	0	0	12250	1838	64	5	836	5	PON3	7	95001600	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	461235	95001600	64137063	3113	69727											
PDK4	5166	broad.mit.edu	37	chr7	95223071	95223071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccaccaaatccatcaggCtctgtatatacctgtaaaga	5	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:95223071C>T	uc003uoa.2	-	3	604	c.284G>A	c.(283-285)AGC>AAC	p.S95N	PDK4_uc003unz.2_5'Flank	NM_002612	NP_002603	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase 4 precursor	95					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity				0	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			ATCCATCAGGCTCTGTATATA	0.318													T	95223071	C	T	95223071	3	4	104	1	0	0	0	0	1	0	0	0	11678	797	28	2	987	2	PDK4	7	95223071	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	221471	95223071	63915592	3114	69728											
PDK4	5166	broad.mit.edu	37	chr7	95224379	95224379	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggtatttactaattgggtCgggaggatatcaatttcctt	11	5	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:95224379C>T	uc003uoa.2	-	2	548	c.228G>A	c.(226-228)CCG>CCA	p.P76P	PDK4_uc003unz.2_5'Flank	NM_002612	NP_002603	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase 4 precursor	76					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity				0	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			CTAATTGGGTCGGGAGGATAT	0.393													T	95224379	C	T	95224379	2	4	104	1	0	0	0	0	0	0	0	1	11678	871	31	1		1	PDK4	7	95224379	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1308	95224379	63914284	3115	69729											
ASNS	440	broad.mit.edu	37	chr7	97488685	97488685	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccacttttaaaaagggagtCgcggagtgcttcaatgtaac	10	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:97488685C>T	uc003uot.3	-	5	1019	c.513G>A	c.(511-513)GCG>GCA	p.A171A	ASNS_uc011kin.1_Silent_p.A88A|ASNS_uc003uou.3_Silent_p.A171A|ASNS_uc003uov.3_Silent_p.A171A|ASNS_uc011kio.1_Silent_p.A150A|ASNS_uc003uow.3_Silent_p.A150A|ASNS_uc003uox.3_Silent_p.A88A	NM_133436	NP_597680	P08243	ASNS_HUMAN	asparagine synthetase	171	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AAAAGGGAGTCGCGGAGTGCT	0.368													T	97488685	C	T	97488685	2	4	104	1	0	0	0	0	0	0	0	1	1048	871	31	1		1	ASNS	7	97488685	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2264306	97488685	61649978	3116	69730											
ASNS	440	broad.mit.edu	37	chr7	97493736	97493736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgtttgctcaattcctcCtttgtcataaagatgaagga	7	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:97493736C>T	uc003uot.3	-	4	828	c.322G>A	c.(322-324)GGA>AGA	p.G108R	ASNS_uc011kin.1_Missense_Mutation_p.G25R|ASNS_uc003uou.3_Missense_Mutation_p.G108R|ASNS_uc003uov.3_Missense_Mutation_p.G108R|ASNS_uc011kio.1_Missense_Mutation_p.G87R|ASNS_uc003uow.3_Missense_Mutation_p.G87R|ASNS_uc003uox.3_Missense_Mutation_p.G25R	NM_133436	NP_597680	P08243	ASNS_HUMAN	asparagine synthetase	108	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCAATTCCTCCTTTGTCATAA	0.373													T	97493736	C	T	97493736	3	4	104	1	0	0	0	0	1	0	0	0	1048	690	24	4	1403	4	ASNS	7	97493736	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5051	97493736	61644927	3117	69731											
TRRAP	8295	broad.mit.edu	37	chr7	98508728	98508728	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaggaaatggacagacatAcatccgtgtggccaactgcc	11	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:98508728A>G	uc003upp.2	+	17	2050	c.1841A>G	c.(1840-1842)TAC>TGC	p.Y614C	TRRAP_uc011kis.1_Missense_Mutation_p.Y614C|TRRAP_uc003upr.2_Missense_Mutation_p.Y306C	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	614					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGACAGACATACATCCGTGTG	0.458													G	98508728	A	G	98508728	3	3	104	1	0	0	0	0	1	0	0	0	16598	391	14	3	1903	3	TRRAP	7	98508728	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1014992	98508728	60629935	3118	69732											
TRRAP	8295	broad.mit.edu	37	chr7	98591318	98591318	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtcttccctggaaggcatCgtcgatcagatggtctggtt	12	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:98591318C>T	uc003upp.2	+	65	10172	c.9963C>T	c.(9961-9963)ATC>ATT	p.I3321I	TRRAP_uc011kis.1_Silent_p.I3292I|TRRAP_uc003upr.2_Silent_p.I3027I	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3321					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGAAGGCATCGTCGATCAGA	0.547													T	98591318	C	T	98591318	2	4	104	1	0	0	0	0	0	0	0	1	16598	874	31	1		1	TRRAP	7	98591318	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	82590	98591318	60547345	3119	69733											
TRRAP	8295	broad.mit.edu	37	chr7	98601919	98601919	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accaagcaactccccaaattCttcctcatagaggaaaagtg	6	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:98601919C>T	uc003upp.2	+	67	10583	c.10374C>T	c.(10372-10374)TTC>TTT	p.F3458F	TRRAP_uc011kis.1_Silent_p.F3429F|TRRAP_uc003upr.2_Silent_p.F3164F	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3458					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCCAAATTCTTCCTCATAG	0.443													T	98601919	C	T	98601919	2	4	104	1	0	0	0	0	0	0	0	1	16598	912	32	4		4	TRRAP	7	98601919	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	10601	98601919	60536744	3120	69734											
TRRAP	8295	broad.mit.edu	37	chr7	98608819	98608819	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagctggctctgataggcTtcgcggaattcgtcctgcat	11	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:98608819T>G	uc003upp.2	+	70	11250	c.11041T>G	c.(11041-11043)TTC>GTC	p.F3681V	TRRAP_uc011kis.1_Missense_Mutation_p.F3652V|TRRAP_uc003upr.2_Missense_Mutation_p.F3387V|TRRAP_uc003ups.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3681	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTGATAGGCTTCGCGGAATT	0.542													G	98608819	T	G	98608819	3	3	104	1	0	0	0	0	1	0	0	0	16598	1609	56	5	11224	5	TRRAP	7	98608819	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	6900	98608819	60529844	3121	69735											
SMURF1	57154	broad.mit.edu	37	chr7	98655153	98655153	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccacacgctaatggttatCgaatccgttttcccaacata	5	12	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:98655153C>T	uc003upu.1	-	4	545	c.225G>A	c.(223-225)TCG>TCA	p.S75S	SMURF1_uc003upv.1_Silent_p.S75S|SMURF1_uc003upt.2_Silent_p.S75S	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	75	C2.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TAATGGTTATCGAATCCGTTT	0.348													T	98655153	C	T	98655153	2	4	104	1	0	0	0	0	0	0	0	1	14819	871	31	1		1	SMURF1	7	98655153	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	46334	98655153	60483510	3122	69736											
PDAP1	11333	broad.mit.edu	37	chr7	98995514	98995514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttccttcttccgggcaGcctcctcccgctgtttccgg	8	19	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:98995514G>A	uc003uqe.2	-	5	579	c.458C>T	c.(457-459)GCT>GTT	p.A153V		NM_014891	NP_055706	Q13442	HAP28_HUMAN	PDGFA associated protein 1	153					cell proliferation|signal transduction						0	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	CTTCCGGGCAGCCTCCTCCCG	0.602													A	98995514	G	A	98995514	3	1	104	1	0	0	0	0	1	0	0	0	11613	971	34	2	95	2	PDAP1	7	98995514	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	340361	98995514	60143149	3123	69737											
BUD31	8896	broad.mit.edu	37	chr7	99015106	99015106	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agacaaaaacctgattgcaaAatggaaaaagcaaggatatg	9	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:99015106A>C	uc003uqf.2	+	5	473	c.272A>C	c.(271-273)AAA>ACA	p.K91T	BUD31_uc011kiu.1_Missense_Mutation_p.K91T|BUD31_uc011kiv.1_Missense_Mutation_p.K91T|BUD31_uc003uqg.3_Missense_Mutation_p.K91T	NM_003910	NP_003901	P41223	BUD31_HUMAN	G10 protein	91					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CTGATTGCAAAATGGAAAAAG	0.458													C	99015106	A	C	99015106	3	2	104	1	0	0	0	0	1	0	0	0	1574	14	1	5	282	5	BUD31	7	99015106	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	19592	99015106	60123557	3124	69738											
ZNF655	79027	broad.mit.edu	37	chr7	99171030	99171030	+	Missense_Mutation	SNP	G	G	T													cacaaaatgcataggaaagaGaaatcgtatgaatgtaatga							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:99171030G>T	uc003urh.2	+	3	1692	c.1299G>T	c.(1297-1299)GAG>GAT	p.E433D	ZNF655_uc010lga.2_Missense_Mutation_p.E468D|ZNF655_uc010lgc.2_Missense_Mutation_p.E468D|ZNF655_uc003urj.2_Missense_Mutation_p.E433D|ZNF655_uc003urk.2_Missense_Mutation_p.E270D|ZNF655_uc010lgd.2_Missense_Mutation_p.E270D	NM_138494	NP_612503	Q8N720	ZN655_HUMAN	zinc finger protein 655 isoform a	433					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ATAGGAAAGAGAAATCGTATG	0.398													T	99171030	G	T	99171030	3	4	104	1	0	0	0	0	1	0	0	0	18065	933	33	5	1836	5	ZNF655	7	99171030	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	155924	99171030	59967633	3125	69739	321	2									
ZNF655	79027	broad.mit.edu	37	chr7	99171035	99171035	+	Missense_Mutation	SNP	C	C	T													aatgcataggaaagagaaatCgtatgaatgtaatgagtatg							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:99171035C>T	uc003urh.2	+	3	1697	c.1304C>T	c.(1303-1305)TCG>TTG	p.S435L	ZNF655_uc010lga.2_Missense_Mutation_p.S470L|ZNF655_uc010lgc.2_Missense_Mutation_p.S470L|ZNF655_uc003urj.2_Missense_Mutation_p.S435L|ZNF655_uc003urk.2_Missense_Mutation_p.S272L|ZNF655_uc010lgd.2_Missense_Mutation_p.S272L	NM_138494	NP_612503	Q8N720	ZN655_HUMAN	zinc finger protein 655 isoform a	435					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AAAGAGAAATCGTATGAATGT	0.398													T	99171035	C	T	99171035	3	4	104	1	0	0	0	0	1	0	0	0	18065	893	31	1	1841	1	ZNF655	7	99171035	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5	99171035	59967628	3126	69740	321	2									
CYP3A7	1551	broad.mit.edu	37	chr7	99311124	99311124	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagagtcttttgaattctgaGagtcaatcatcagctgaagg	10	7	5	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:99311124G>A	uc003uru.2	-	9	938	c.833C>T	c.(832-834)TCT>TTT	p.S278F	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	278					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TGAATTCTGAGAGTCAATCAT	0.418													A	99311124	G	A	99311124	3	1	104	1	0	0	0	0	1	0	0	0	4181	942	33	4	698	4	CYP3A7	7	99311124	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	140089	99311124	59827539	3127	69741											
GAL3ST4	79690	broad.mit.edu	37	chr7	99757915	99757915	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggacatagagagcccagTccaggttgttccaggctcgg	14	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:99757915T>C	uc003utt.2	-	3	2114	c.1097A>G	c.(1096-1098)GAC>GGC	p.D366G	C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.D366G|GAL3ST4_uc010lgq.2_Missense_Mutation_p.D304G	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	366	Lumenal (Potential).				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGAGCCCAGTCCAGGTTGTT	0.637													C	99757915	T	C	99757915	3	2	104	1	0	0	0	0	1	0	0	0	6200	1667	58	3	367	3	GAL3ST4	7	99757915	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	446791	99757915	59380748	3128	69742											
GPC2	221914	broad.mit.edu	37	chr7	99768093	99768093	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtccccctccagagccGctggcatcctcatctgcaag	9	17	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:99768093G>A	uc003utv.2	-	10	1668	c.1500C>T	c.(1498-1500)AGC>AGT	p.S500S	GAL3ST4_uc003utt.2_5'Flank|GAL3ST4_uc003utu.2_5'Flank|GAL3ST4_uc010lgq.2_5'Flank|GPC2_uc010lgr.2_RNA	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	glypican 2 precursor	500						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|pancreas(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCCAGAGCCGCTGGCATCCT	0.388													A	99768093	G	A	99768093	2	1	104	1	0	0	0	0	0	0	0	1	6598	1078	38	1		1	GPC2	7	99768093	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	10178	99768093	59370570	3129	69743											
PCOLCE	5118	broad.mit.edu	37	chr7	100201741	100201741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggcctgcgcccctagtcGcccccggcaaccaggtgacc	11	20	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:100201741G>A	uc003uvo.2	+	3	562	c.364G>A	c.(364-366)GCC>ACC	p.A122T	uc011kjy.1_5'Flank|PCOLCE_uc011kkb.1_Missense_Mutation_p.A122T|PCOLCE_uc010lhb.1_Intron|PCOLCE_uc003uvp.1_5'Flank	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	122	CUB 1.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity				0	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCCCCTAGTCGCCCCCGGCAA	0.687													A	100201741	G	A	100201741	3	1	104	1	0	0	0	0	1	0	0	0	11594	1087	38	1	374	1	PCOLCE	7	100201741	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	433648	100201741	58936922	3130	69744											
PCOLCE	5118	broad.mit.edu	37	chr7	100203324	100203324	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctgaccttcgagaagtTtgacctggagccggacacct	12	13	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:100203324T>C	uc003uvo.2	+	5	812	c.614T>C	c.(613-615)TTT>TCT	p.F205S	uc011kjy.1_5'Flank|PCOLCE_uc010lhb.1_RNA|PCOLCE_uc003uvp.1_5'Flank	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	205	CUB 2.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity				0	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TTCGAGAAGTTTGACCTGGAG	0.682													C	100203324	T	C	100203324	3	2	104	1	0	0	0	0	1	0	0	0	11594	1841	64	3	632	3	PCOLCE	7	100203324	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1583	100203324	58935339	3131	69745											
ZAN	7455	broad.mit.edu	37	chr7	100358106	100358106	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggagctgcagacggagttCggtttgcgggtgagatggga	20	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:100358106C>T	uc003uwj.2	+	19	3954	c.3789C>T	c.(3787-3789)TTC>TTT	p.F1263F	ZAN_uc003uwk.2_Silent_p.F1263F|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_5'Flank	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1263	VWFD 1.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGACGGAGTTCGGTTTGCGGG	0.587													T	100358106	C	T	100358106	2	4	104	1	0	0	0	0	0	0	0	1	17510	883	31	1		1	ZAN	7	100358106	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	154782	100358106	58780557	3132	69746											
ZAN	7455	broad.mit.edu	37	chr7	100385564	100385564	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttacctcacatttgacggcTtcagctaccgcttgcaaggc	9	13	2	1	rs112538235		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:100385564T>G	uc003uwj.2	+	39	7198	c.7033T>G	c.(7033-7035)TTC>GTC	p.F2345V	ZAN_uc003uwk.2_Missense_Mutation_p.F2345V|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.F395V	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	2345	VWFD 4.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATTTGACGGCTTCAGCTACCG	0.498													G	100385564	T	G	100385564	3	3	104	1	0	0	0	0	1	0	0	0	17510	1609	56	5	7178	5	ZAN	7	100385564	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	27458	100385564	58753099	3133	69747											
ZAN	7455	broad.mit.edu	37	chr7	100388619	100388619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggcctgtgcggaaactaCgacaagaaccgcaagaatga	12	9	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:100388619C>T	uc003uwj.2	+	41	7578	c.7413C>T	c.(7411-7413)TAC>TAT	p.Y2471Y	ZAN_uc003uwk.2_Silent_p.Y2471Y|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Intron	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	2471	VWFD 4.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCGGAAACTACGACAAGAACC	0.577													T	100388619	C	T	100388619	2	4	104	1	0	0	0	0	0	0	0	1	17510	547	19	1		1	ZAN	7	100388619	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3055	100388619	58750044	3134	69748											
MUC17	140453	broad.mit.edu	37	chr7	100682994	100682994	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caccctgccagtggccagttCtgaggctagcaccgtttcaa	10	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:100682994C>A	uc003uxp.1	+	3	8350	c.8297C>A	c.(8296-8298)TCT>TAT	p.S2766Y	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2766	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|44.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGGCCAGTTCTGAGGCTAGC	0.493													A	100682994	C	A	100682994	3	1	104	1	0	0	0	0	1	0	0	0	9974	913	32	5	8307	5	MUC17	7	100682994	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	294375	100682994	58455669	3135	69749											
MUC17	140453	broad.mit.edu	37	chr7	100686614	100686614	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taacttccactgaactaaacAcaccatcaacctccagtagt	3	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:100686614A>G	uc003uxp.1	+	3	11970	c.11917A>G	c.(11917-11919)ACA>GCA	p.T3973A	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3973	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TGAACTAAACACACCATCAAC	0.448													G	100686614	A	G	100686614	3	3	104	1	0	0	0	0	1	0	0	0	9974	159	6	3	11927	3	MUC17	7	100686614	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	3620	100686614	58452049	3136	69750											
RABL5	64792	broad.mit.edu	37	chr7	100958425	100958425	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggctggctaggtcataAttgacatctcctccctgtct	9	11	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:100958425A>C	uc003uyl.2	-	5	651	c.548T>G	c.(547-549)ATT>AGT	p.I183S	RABL5_uc011kkk.1_Missense_Mutation_p.I106S|RABL5_uc011kkl.1_Missense_Mutation_p.I106S|RABL5_uc003uym.2_Missense_Mutation_p.I153S|RABL5_uc010lhw.2_RNA	NM_022777	NP_073614	Q9H7X7	RABL5_HUMAN	RAB, member RAS oncogene family-like 5 isoform	183							GTP binding				0	Lung NSC(181;0.215)					CTAGGTCATAATTGACATCTC	0.463											OREG0018221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	100958425	A	C	100958425	3	2	104	1	0	0	0	0	1	0	0	0	12973	101	4	5	13	5	RABL5	7	100958425	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	271811	100958425	58180238	3137	69751											
RABL5	64792	broad.mit.edu	37	chr7	100962276	100962276	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtattcagtgatgtcagaaGattctgtcagaaagttggcc	11	6	4	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:100962276G>T	uc003uyl.2	-	2	180	c.77C>A	c.(76-78)TCT>TAT	p.S26Y	RABL5_uc011kkk.1_5'UTR|RABL5_uc011kkl.1_Intron|RABL5_uc003uym.2_Missense_Mutation_p.S26Y|RABL5_uc010lhw.2_RNA|RABL5_uc011kkm.1_Missense_Mutation_p.S26Y	NM_022777	NP_073614	Q9H7X7	RABL5_HUMAN	RAB, member RAS oncogene family-like 5 isoform	26							GTP binding				0	Lung NSC(181;0.215)					GATGTCAGAAGATTCTGTCAG	0.378													T	100962276	G	T	100962276	3	4	104	1	0	0	0	0	1	0	0	0	12973	942	33	5	496	5	RABL5	7	100962276	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3851	100962276	58176387	3138	69752											
CUX1	1523	broad.mit.edu	37	chr7	101925144	101925144	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctcccaggggcgtctggttCtctccaacaagatggcgcgc	13	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:101925144C>A	uc003uyt.2	+	21	1853	c.1834C>A	c.(1834-1836)CTC>ATC	p.L612I	CUX1_uc011kkn.1_Missense_Mutation_p.L573I|CUX1_uc003uyw.2_Missense_Mutation_p.L566I|CUX1_uc003uyv.2_Missense_Mutation_p.L596I|CUX1_uc003uyu.2_Missense_Mutation_p.L610I|CUX1_uc003uyz.2_RNA	NM_001913	NP_001904	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform b	Error:Variant_position_missing_in_P39880_after_alignment					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						GCGTCTGGTTCTCTCCAACAA	0.652													A	101925144	C	A	101925144	3	1	104	1	0	0	0	0	1	0	0	0	4064	913	32	5	5286	5	CUX1	7	101925144	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	962868	101925144	57213519	3139	69753											
FBXL13	222235	broad.mit.edu	37	chr7	102517974	102517974	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggaaaagatgtttacaatAtatccaattccttgggcagt	8	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:102517974A>G	uc003vaq.2	-	16	2002	c.1575T>C	c.(1573-1575)TAT>TAC	p.Y525Y	FBXL13_uc010liq.1_Intron|FBXL13_uc010lir.1_Silent_p.Y525Y|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Silent_p.Y525Y	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	525	LRR 12.										0						TGTTTACAATATATCCAATTC	0.313													G	102517974	A	G	102517974	2	3	104	1	0	0	0	0	0	0	0	1	5709	456	16	3		3	FBXL13	7	102517974	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	592830	102517974	56620689	3140	69754											
DNAJC2	27000	broad.mit.edu	37	chr7	102953458	102953458	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttctgctattttttcccatCtttcaggtgtatttactggg	7	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:102953458C>A	uc003vbo.2	-	16	1978	c.1727G>T	c.(1726-1728)AGA>ATA	p.R576I	PMPCB_uc003vbl.2_3'UTR|PMPCB_uc003vbm.2_3'UTR|PMPCB_uc010liv.2_3'UTR|PMPCB_uc010liw.2_3'UTR|PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_Missense_Mutation_p.R201I|DNAJC2_uc010lix.2_Missense_Mutation_p.R523I|DNAJC2_uc003vbp.2_Missense_Mutation_p.R201I	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	576	SANT 2.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			kidney(1)	1						TTTTTCCCATCTTTCAGGTGT	0.403													A	102953458	C	A	102953458	3	1	104	1	0	0	0	0	1	0	0	0	4639	913	32	5	146	5	DNAJC2	7	102953458	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	435484	102953458	56185205	3141	69755											
DNAJC2	27000	broad.mit.edu	37	chr7	102967025	102967025	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacactggggtaaacacttcGaagaaattatcctttgcttc	7	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:102967025G>A	uc003vbo.2	-	5	788	c.537C>T	c.(535-537)TTC>TTT	p.F179F	PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_5'UTR|DNAJC2_uc010lix.2_Silent_p.F179F|DNAJC2_uc003vbp.2_5'UTR|DNAJC2_uc003vbq.1_RNA	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	179	ZRF1-UBD.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			kidney(1)	1						TAAACACTTCGAAGAAATTAT	0.378													A	102967025	G	A	102967025	2	1	104	1	0	0	0	0	0	0	0	1	4639	1049	37	1		1	DNAJC2	7	102967025	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13567	102967025	56171638	3142	69756											
DNAJC2	27000	broad.mit.edu	37	chr7	102967059	102967059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttcacttttagaaggaActgagttatcaaaagtagga	9	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:102967059A>G	uc003vbo.2	-	5	754	c.503T>C	c.(502-504)GTT>GCT	p.V168A	PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_5'UTR|DNAJC2_uc010lix.2_Missense_Mutation_p.V168A|DNAJC2_uc003vbp.2_5'UTR|DNAJC2_uc003vbq.1_RNA	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	168	ZRF1-UBD.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			kidney(1)	1						TTTAGAAGGAACTGAGTTATC	0.353													G	102967059	A	G	102967059	3	3	104	1	0	0	0	0	1	0	0	0	4639	43	2	3	1414	3	DNAJC2	7	102967059	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	34	102967059	56171604	3143	69757											
DNAJC2	27000	broad.mit.edu	37	chr7	102982306	102982306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggataactctttcttatcctCcagttcctgaaaagaggcag	8	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:102982306C>T	uc003vbo.2	-	2	411	c.160G>A	c.(160-162)GAG>AAG	p.E54K	DNAJC2_uc003vbn.2_5'UTR|DNAJC2_uc010lix.2_Missense_Mutation_p.E54K|DNAJC2_uc003vbp.2_5'UTR|DNAJC2_uc003vbq.1_RNA|DNAJC2_uc003vbr.1_Missense_Mutation_p.E54K	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	54					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			kidney(1)	1						TTCTTATCCTCCAGTTCCTGA	0.423													T	102982306	C	T	102982306	3	4	104	1	0	0	0	0	1	0	0	0	4639	864	30	4	1769	4	DNAJC2	7	102982306	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	15247	102982306	56156357	3144	69758											
SLC26A5	375611	broad.mit.edu	37	chr7	103061263	103061263	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccttgaatttgtatgctgGcagccatttagttatgggta	10	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:103061263G>T	uc003vbz.2	-	4	450	c.214C>A	c.(214-216)CCA>ACA	p.P72T	SLC26A5_uc003vbt.1_Missense_Mutation_p.P72T|SLC26A5_uc003vbu.1_Missense_Mutation_p.P72T|SLC26A5_uc003vbv.1_Missense_Mutation_p.P72T|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.P72T|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	72	Cytoplasmic (Potential).				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						TTGTATGCTGGCAGCCATTTA	0.373													T	103061263	G	T	103061263	3	4	104	1	0	0	0	0	1	0	0	0	14520	1203	42	5	2129	5	SLC26A5	7	103061263	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	78957	103061263	56077400	3145	69759											
RELN	5649	broad.mit.edu	37	chr7	103155842	103155842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggctgccaccagcggaagcGagtggcaatctctttagcat	12	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:103155842G>A	uc003vca.2	-	50	8069	c.7909C>T	c.(7909-7911)CGC>TGC	p.R2637C	RELN_uc010liz.2_Missense_Mutation_p.R2637C	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2637					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGCGGAAGCGAGTGGCAATC	0.498													A	103155842	G	A	103155842	3	1	104	1	0	0	0	0	1	0	0	0	13220	1058	37	1	2537	1	RELN	7	103155842	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	94579	103155842	55982821	3146	69760											
RELN	5649	broad.mit.edu	37	chr7	103179740	103179740	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaaatcatcttccaagAccgtattaccagaaatattt	5	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:103179740A>C	uc003vca.2	-	45	7125	c.6965T>G	c.(6964-6966)GTC>GGC	p.V2322G	RELN_uc010liz.2_Missense_Mutation_p.V2322G	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2322					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATCTTCCAAGACCGTATTACC	0.403													C	103179740	A	C	103179740	3	2	104	1	0	0	0	0	1	0	0	0	13220	275	10	5	3501	5	RELN	7	103179740	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	23898	103179740	55958923	3147	69761											
RELN	5649	broad.mit.edu	37	chr7	103205762	103205762	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagacagtgatccgcttccAattctggaatctttccgagg	10	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:103205762A>C	uc003vca.2	-	34	5333	c.5173T>G	c.(5173-5175)TGG>GGG	p.W1725G	RELN_uc010liz.2_Missense_Mutation_p.W1725G	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1725					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATCCGCTTCCAATTCTGGAAT	0.443													C	103205762	A	C	103205762	3	2	104	1	0	0	0	0	1	0	0	0	13220	130	5	5	5337	5	RELN	7	103205762	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	26022	103205762	55932901	3148	69762											
RELN	5649	broad.mit.edu	37	chr7	103276722	103276722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagatgtaattagctgacGccgcccatctttgttgaaaa	9	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:103276722G>A	uc003vca.2	-	18	2423	c.2263C>T	c.(2263-2265)CGT>TGT	p.R755C	RELN_uc010liz.2_Missense_Mutation_p.R755C	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	755					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTAGCTGACGCCGCCCATCT	0.433													A	103276722	G	A	103276722	3	1	104	1	0	0	0	0	1	0	0	0	13220	1087	38	1	8311	1	RELN	7	103276722	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	70960	103276722	55861941	3149	69763											
MLL5	55904	broad.mit.edu	37	chr7	104731694	104731694	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tattgatgatatagaagaaaAaactcctattagtaatgaag	7	3	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:104731694A>C	uc003vcm.2	+	15	2189	c.1655A>C	c.(1654-1656)AAA>ACA	p.K552T	MLL5_uc003vcl.2_Missense_Mutation_p.K552T|MLL5_uc010ljc.2_Missense_Mutation_p.K552T	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	552					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						ATAGAAGAAAAAACTCCTATT	0.333													C	104731694	A	C	104731694	3	2	104	1	0	0	0	0	1	0	0	0	9624	14	1	5	1705	5	MLL5	7	104731694	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1454972	104731694	54406969	3150	69764											
MLL5	55904	broad.mit.edu	37	chr7	104746336	104746336	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaagctctggaagaagaaAattcagcaattttacataga	7	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:104746336A>C	uc003vcm.2	+	19	3016	c.2482A>C	c.(2482-2484)AAT>CAT	p.N828H	MLL5_uc010ljc.2_Missense_Mutation_p.N828H|MLL5_uc010lje.1_RNA|MLL5_uc010ljf.1_5'Flank|MLL5_uc010ljg.2_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	828					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						GGAAGAAGAAAATTCAGCAAT	0.343													C	104746336	A	C	104746336	3	2	104	1	0	0	0	0	1	0	0	0	9624	14	1	5	2548	5	MLL5	7	104746336	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	14642	104746336	54392327	3151	69765											
MLL5	55904	broad.mit.edu	37	chr7	104750736	104750736	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgaaaggactgcctcAacttcagtggaacaagtcag	9	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:104750736A>G	uc003vcm.2	+	24	4299	c.3765A>G	c.(3763-3765)TCA>TCG	p.S1255S	MLL5_uc010ljc.2_Silent_p.S1255S|MLL5_uc010lje.1_RNA|MLL5_uc010ljf.1_RNA|MLL5_uc010ljg.2_Intron|uc003vcp.1_5'Flank|MLL5_uc010ljh.1_Missense_Mutation_p.Q61R	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1255					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						GGACTGCCTCAACTTCAGTGG	0.383													G	104750736	A	G	104750736	2	3	104	1	0	0	0	0	0	0	0	1	9624	117	5	3		3	MLL5	7	104750736	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	4400	104750736	54387927	3152	69766											
PUS7	54517	broad.mit.edu	37	chr7	105111185	105111185	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccatattttgaaagtcctcGaagcagctgcccttccacac	6	14	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:105111185G>A	uc003vcx.2	-	11	1567	c.1348C>T	c.(1348-1350)CGA>TGA	p.R450*	PUS7_uc010lji.2_Nonsense_Mutation_p.R456*|PUS7_uc003vcy.2_Nonsense_Mutation_p.R450*|PUS7_uc003vcz.1_Nonsense_Mutation_p.R450*	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog	450	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1						GAAAGTCCTCGAAGCAGCTGC	0.438													A	105111185	G	A	105111185	4	1	104	1	0	0	0	0	0	1	0	0	12833	1066	37	1	661	1	PUS7	7	105111185	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	360449	105111185	54027478	3153	69767											
RINT1	60561	broad.mit.edu	37	chr7	105187508	105187508	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttaaattctggcataaaAttctcaaggacaagcttaca	6	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:105187508A>C	uc003vda.1	+	5	898	c.667A>C	c.(667-669)ATT>CTT	p.I223L	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	223	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			ovary(3)|central_nervous_system(1)	4						CTGGCATAAAATTCTCAAGGA	0.378													C	105187508	A	C	105187508	3	2	104	1	0	0	0	0	1	0	0	0	13376	101	4	5	685	5	RINT1	7	105187508	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	76323	105187508	53951155	3154	69768											
CDHR3	222256	broad.mit.edu	37	chr7	105662793	105662793	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taactgatgacaacttgatgTctgacaggaagaaagcggag	12	6	1	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:105662793T>G	uc003vdl.3	+	14	2083	c.1975T>G	c.(1975-1977)TCT>GCT	p.S659A	CDHR3_uc003vdk.2_Intron|CDHR3_uc003vdm.3_Missense_Mutation_p.S646A|CDHR3_uc011klt.1_Missense_Mutation_p.S571A|CDHR3_uc003vdn.2_Intron	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	659	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						CAACTTGATGTCTGACAGGAA	0.483													G	105662793	T	G	105662793	3	3	104	1	0	0	0	0	1	0	0	0	3120	1667	58	5	2029	5	CDHR3	7	105662793	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	475285	105662793	53475870	3155	69769											
NAMPT	10135	broad.mit.edu	37	chr7	105902057	105902057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtaaggtattaatatctaCtccatccccttgaataactc	4	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:105902057C>T	uc003vdq.2	-	8	1374	c.1066G>A	c.(1066-1068)GTA>ATA	p.V356I	NAMPT_uc003vdr.1_Missense_Mutation_p.V356I	NM_005746	NP_005737	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	356					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			large_intestine(1)	1						TTAATATCTACTCCATCCCCT	0.308													T	105902057	C	T	105902057	3	4	104	1	0	0	0	0	1	0	0	0	10149	565	20	4	425	4	NAMPT	7	105902057	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	239264	105902057	53236606	3156	69770											
PIK3CG	5294	broad.mit.edu	37	chr7	106520000	106520000	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taatggcctccaagaaaaaaCcactatggcttgagtttaaa	7	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:106520000C>A	uc003vdv.3	+	6	2513	c.2428C>A	c.(2428-2430)CCA>ACA	p.P810T	PIK3CG_uc003vdu.2_Missense_Mutation_p.P810T|PIK3CG_uc003vdw.2_Missense_Mutation_p.P810T	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	810					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						CAAGAAAAAACCACTATGGCT	0.388													A	106520000	C	A	106520000	3	1	104	1	0	0	0	0	1	0	0	0	11916	507	18	5	2446	5	PIK3CG	7	106520000	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	617943	106520000	52618663	3157	69771											
COG5	10466	broad.mit.edu	37	chr7	106938717	106938717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgactgtattgttgaagacGcttccataagtcattataaa	7	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:106938717G>A	uc003ved.2	-	12	1801	c.1276C>T	c.(1276-1278)CGT>TGT	p.R426C	COG5_uc003vec.2_Missense_Mutation_p.R426C|COG5_uc003vee.2_Missense_Mutation_p.R426C	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	426					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						TGTTGAAGACGCTTCCATAAG	0.378													A	106938717	G	A	106938717	3	1	104	1	0	0	0	0	1	0	0	0	3661	1087	38	1	1354	1	COG5	7	106938717	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	418717	106938717	52199946	3158	69772											
COG5	10466	broad.mit.edu	37	chr7	107002853	107002853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggggttggcatggtagatCgtccaggtccccctggttat	14	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:107002853C>T	uc003ved.2	-	9	1466	c.941G>A	c.(940-942)CGA>CAA	p.R314Q	COG5_uc003vec.2_Missense_Mutation_p.R314Q|COG5_uc003vee.2_Missense_Mutation_p.R314Q	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	314					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						CATGGTAGATCGTCCAGGTCC	0.378													T	107002853	C	T	107002853	3	4	104	1	0	0	0	0	1	0	0	0	3661	884	31	1	1701	1	COG5	7	107002853	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	64136	107002853	52135810	3159	69773											
SLC26A4	5172	broad.mit.edu	37	chr7	107314667	107314667	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctgagcatggcccccgaCgaacactttctcgtatccag	9	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:107314667C>T	uc003vep.2	+	5	698	c.474C>T	c.(472-474)GAC>GAT	p.D158D		NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	158	Extracellular (Potential).				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)	7						TGGCCCCCGACGAACACTTTC	0.433									Pendred_syndrome				T	107314667	C	T	107314667	2	4	104	1	0	0	0	0	0	0	0	1	14519	535	19	1		1	SLC26A4	7	107314667	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	311814	107314667	51823996	3160	69774											
SLC26A3	1811	broad.mit.edu	37	chr7	107408302	107408302	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaagaaaaatattgagcttTtcacttcaccatcaaaaaat	3	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:107408302T>G	uc003ver.2	-	19	2325	c.2114A>C	c.(2113-2115)AAA>ACA	p.K705T	SLC26A3_uc003ves.2_Missense_Mutation_p.K592T	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	705	Helical; (Potential).|STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)|skin(1)	4						TATTGAGCTTTTCACTTCACC	0.323													G	107408302	T	G	107408302	3	3	104	1	0	0	0	0	1	0	0	0	14518	1841	64	5	192	5	SLC26A3	7	107408302	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	93635	107408302	51730361	3161	69775											
ZNF277	11179	broad.mit.edu	37	chr7	111958290	111958290	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgataccaattttcatggCgtttgtatgttttgcaatga	8	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:111958290C>T	uc003vge.2	+	5	648	c.519C>T	c.(517-519)GGC>GGT	p.G173G	ZNF277_uc003vgd.2_Silent_p.G173G|ZNF277_uc003vgf.2_Silent_p.G95G|ZNF277_uc003vgg.2_5'UTR	NM_021994	NP_068834	Q9NRM2	ZN277_HUMAN	zinc finger protein (C2H2 type) 277	173						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(2)	4						ATTTTCATGGCGTTTGTATGT	0.343													T	111958290	C	T	111958290	2	4	104	1	0	0	0	0	0	0	0	1	17809	755	27	1		1	ZNF277	7	111958290	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4549988	111958290	47180373	3162	69776											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518902	113518902	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagcttagcaattattgcttTttctctagcagacatgcttt	6	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:113518902T>A	uc010ljy.1	-	4	2276	c.2245A>T	c.(2245-2247)AAA>TAA	p.K749*		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	749					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						ATTATTGCTTTTTCTCTAGCA	0.423													A	113518902	T	A	113518902	4	1	104	1	0	0	0	0	0	1	0	0	12371	1850	64	5	1127	5	PPP1R3A	7	113518902	Nonsense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1560612	113518902	45619761	3163	69777											
FOXP2	93986	broad.mit.edu	37	chr7	114271749	114271749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcagcacttcctgtccaatCgctgcctcaaggtacataca	8	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:114271749C>T	uc003vhb.2	+	6	1138	c.764C>T	c.(763-765)TCG>TTG	p.S255L	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.S280L|FOXP2_uc003vha.2_Missense_Mutation_p.S163L|FOXP2_uc011kmu.1_Missense_Mutation_p.S272L|FOXP2_uc011kmv.1_Missense_Mutation_p.S254L|FOXP2_uc010ljz.1_Missense_Mutation_p.S163L|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Missense_Mutation_p.S255L|FOXP2_uc003vgx.2_Missense_Mutation_p.S255L|FOXP2_uc003vhd.2_Missense_Mutation_p.S255L|FOXP2_uc003vhc.2_Missense_Mutation_p.S280L	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	255	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						CCTGTCCAATCGCTGCCTCAA	0.473													T	114271749	C	T	114271749	3	4	104	1	0	0	0	0	1	0	0	0	6027	893	31	1	916	1	FOXP2	7	114271749	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	752847	114271749	44866914	3164	69778											
FOXP2	93986	broad.mit.edu	37	chr7	114298150	114298150	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtctagtgtcaccatgtcGaagaatatgttggagacatc	11	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:114298150G>A	uc003vhb.2	+	11	1670	c.1296G>A	c.(1294-1296)TCG>TCA	p.S432S	FOXP2_uc003vgu.2_Intron|FOXP2_uc003vgz.2_Silent_p.S457S|FOXP2_uc003vha.2_Silent_p.S340S|FOXP2_uc011kmu.1_Silent_p.S449S|FOXP2_uc011kmv.1_Silent_p.S431S|FOXP2_uc010ljz.1_Intron|FOXP2_uc003vhe.1_Silent_p.S2S	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	432					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						TCACCATGTCGAAGAATATGT	0.488													A	114298150	G	A	114298150	2	1	104	1	0	0	0	0	0	0	0	1	6027	1045	37	1		1	FOXP2	7	114298150	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	26401	114298150	44840513	3165	69779											
TFEC	22797	broad.mit.edu	37	chr7	115590937	115590937	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttgaactcacggatcattaGactttggaataagagtgcca	10	7	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:115590937G>A	uc003vhj.1	-	6	690	c.506C>T	c.(505-507)TCT>TTT	p.S169F	TFEC_uc003vhk.1_Missense_Mutation_p.S140F|TFEC_uc003vhl.3_Missense_Mutation_p.S140F|TFEC_uc011kmw.1_Missense_Mutation_p.S259F	NM_012252	NP_036384	O14948	TFEC_HUMAN	transcription factor EC isoform a	169	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)	1			STAD - Stomach adenocarcinoma(10;0.00878)			CGGATCATTAGACTTTGGAAT	0.323													A	115590937	G	A	115590937	3	1	104	1	0	0	0	0	1	0	0	0	15799	942	33	4	549	4	TFEC	7	115590937	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1292787	115590937	43547726	3166	69780											
TFEC	22797	broad.mit.edu	37	chr7	115590981	115590981	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttgattcggtaattaatAttataccttcttcttctttc	3	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:115590981A>G	uc003vhj.1	-	6	646	c.462T>C	c.(460-462)AAT>AAC	p.N154N	TFEC_uc003vhk.1_Silent_p.N125N|TFEC_uc003vhl.3_Silent_p.N125N|TFEC_uc011kmw.1_Silent_p.N244N	NM_012252	NP_036384	O14948	TFEC_HUMAN	transcription factor EC isoform a	154	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)	1			STAD - Stomach adenocarcinoma(10;0.00878)			GGTAATTAATATTATACCTTC	0.289													G	115590981	A	G	115590981	2	3	104	1	0	0	0	0	0	0	0	1	15799	446	16	3		3	TFEC	7	115590981	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	44	115590981	43547682	3167	69781											
ST7	7982	broad.mit.edu	37	chr7	116769862	116769862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagaatgcaaagtatggcGaaatccactaaatttattta	7	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:116769862G>A	uc003vin.2	+	4	624	c.410G>A	c.(409-411)CGA>CAA	p.R137Q	ST7_uc011knl.1_Missense_Mutation_p.R137Q|ST7_uc003vio.2_Missense_Mutation_p.R137Q|ST7_uc003viq.2_Missense_Mutation_p.R91Q|ST7_uc011knm.1_Missense_Mutation_p.R94Q|ST7_uc003vir.2_Missense_Mutation_p.R85Q|ST7OT2_uc003viu.2_Intron|ST7_uc011knn.1_Missense_Mutation_p.R85Q|ST7OT2_uc003viw.2_Intron|ST7_uc003vix.1_5'UTR	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	137						integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		AAAGTATGGCGAAATCCACTA	0.403													A	116769862	G	A	116769862	3	1	104	1	0	0	0	0	1	0	0	0	15228	1058	37	1	424	1	ST7	7	116769862	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1178881	116769862	42368801	3168	69782											
ST7	7982	broad.mit.edu	37	chr7	116770546	116770546	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttatttctcctttgcaggTatacttgggtgacaggacga	10	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:116770546T>C	uc003vin.2	+	5	665	c.451T>C	c.(451-453)TAT>CAT	p.Y151H	ST7_uc011knl.1_Missense_Mutation_p.Y151H|ST7_uc003vio.2_Missense_Mutation_p.Y151H|ST7_uc003viq.2_Missense_Mutation_p.Y105H|ST7_uc011knm.1_Missense_Mutation_p.Y108H|ST7_uc003vir.2_Missense_Mutation_p.Y99H|ST7OT2_uc003viu.2_Intron|ST7_uc011knn.1_Missense_Mutation_p.Y99H|ST7OT2_uc003viw.2_Intron|ST7_uc003vix.1_5'UTR	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	151						integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCTTTGCAGGTATACTTGGGT	0.413													C	116770546	T	C	116770546	3	2	104	1	0	0	0	0	1	0	0	0	15228	1652	57	3	469	3	ST7	7	116770546	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	684	116770546	42368117	3169	69783											
ST7	7982	broad.mit.edu	37	chr7	116849924	116849924	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagcaatagcatatgcattCtttcatcttgcacactggaa	7	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:116849924C>A	uc003vin.2	+	13	1552	c.1338C>A	c.(1336-1338)TTC>TTA	p.F446L	ST7_uc011knl.1_Missense_Mutation_p.F423L|ST7_uc003vio.2_Missense_Mutation_p.F423L|ST7_uc003viq.2_Missense_Mutation_p.F400L|ST7_uc011knm.1_Missense_Mutation_p.F403L|ST7_uc003vir.2_Missense_Mutation_p.F371L|ST7_uc011knn.1_Missense_Mutation_p.F394L|ST7OT3_uc003viy.1_RNA	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	446						integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CATATGCATTCTTTCATCTTG	0.373													A	116849924	C	A	116849924	3	1	104	1	0	0	0	0	1	0	0	0	15228	912	32	5	1388	5	ST7	7	116849924	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	79378	116849924	42288739	3170	69784											
WNT2	7472	broad.mit.edu	37	chr7	116960623	116960623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaaggcaggagacttacttCggagtaggaccctgccaaaa	12	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:116960623C>T	uc003viz.2	-	2	608	c.308G>A	c.(307-309)CGA>CAA	p.R103Q	WNT2_uc003vja.2_Silent_p.P28P	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	103					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		AGACTTACTTCGGAGTAGGAC	0.532													T	116960623	C	T	116960623	3	4	104	1	0	0	0	0	1	0	0	0	17383	884	31	1	790	1	WNT2	7	116960623	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	110699	116960623	42178040	3171	69785											
ASZ1	136991	broad.mit.edu	37	chr7	117066950	117066950	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcattgctttcttaaattTttctttcttttcttcaatgg	5	7	6	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:117066950T>G	uc003vjb.2	-	2	208	c.145A>C	c.(145-147)AAA>CAA	p.K49Q	ASZ1_uc011kno.1_Missense_Mutation_p.K49Q|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper	49	ANK 1.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TTCTTAAATTTTTCTTTCTTT	0.338													G	117066950	T	G	117066950	3	3	104	1	0	0	0	0	1	0	0	0	1069	1850	64	5	1330	5	ASZ1	7	117066950	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	106327	117066950	42071713	3172	69786											
CFTR	1080	broad.mit.edu	37	chr7	117246794	117246794	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgcctcttaccatatTtgacttcatccaggtatgta	5	12	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:117246794T>C	uc003vjd.2	+	18	3107	c.2975T>C	c.(2974-2976)TTT>TCT	p.F992S	CFTR_uc011knq.1_Missense_Mutation_p.F398S	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	992	Helical; Name=9; (Potential).|ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTTACCATATTTGACTTCATC	0.279									Cystic_Fibrosis				C	117246794	T	C	117246794	3	2	104	1	0	0	0	0	1	0	0	0	3294	1841	64	3	3045	3	CFTR	7	117246794	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	179844	117246794	41891869	3173	69787											
CTTNBP2	83992	broad.mit.edu	37	chr7	117431919	117431919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaatctagctgcttggattCgtgggtttagacctggatgc	12	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:117431919C>T	uc003vjf.2	-	4	1423	c.1331G>A	c.(1330-1332)CGA>CAA	p.R444Q		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	444	Pro-rich.									ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGCTTGGATTCGTGGGTTTAG	0.478													T	117431919	C	T	117431919	3	4	104	1	0	0	0	0	1	0	0	0	4045	884	31	1	3740	1	CTTNBP2	7	117431919	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	185125	117431919	41706744	3174	69788											
KCND2	3751	broad.mit.edu	37	chr7	119915724	119915724	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acagttatgttctacgcagaGaaggggtcttcggctagcaa	12	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:119915724G>T	uc003vjj.1	+	1	2003	c.1038G>T	c.(1036-1038)GAG>GAT	p.E346D		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	346					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					TCTACGCAGAGAAGGGGTCTT	0.498													T	119915724	G	T	119915724	3	4	104	1	0	0	0	0	1	0	0	0	8019	933	33	5	1040	5	KCND2	7	119915724	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2483805	119915724	39222939	3175	69789											
ING3	54556	broad.mit.edu	37	chr7	120593395	120593395	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaacaaagagtcagtgaattCtttatgaatgcaaagaaaaa	8	4	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:120593395C>A	uc003vjn.2	+	3	272	c.138C>A	c.(136-138)TTC>TTA	p.F46L	ING3_uc011knr.1_Missense_Mutation_p.F46L|ING3_uc003vjl.2_Missense_Mutation_p.F46L|ING3_uc003vjm.1_Missense_Mutation_p.F46L|ING3_uc003vjo.2_5'UTR|ING3_uc003vjp.2_Missense_Mutation_p.F46L|ING3_uc011kns.1_Missense_Mutation_p.F31L	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3 isoform 1	46					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			ovary(1)	1	all_neural(327;0.117)					TCAGTGAATTCTTTATGAATG	0.289													A	120593395	C	A	120593395	3	1	104	1	0	0	0	0	1	0	0	0	7737	912	32	5	148	5	ING3	7	120593395	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	677671	120593395	38545268	3176	69790											
C7orf58	79974	broad.mit.edu	37	chr7	120704358	120704358	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gattatgtcaaatagttagaAgattcccaggtaatctttcg	8	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:120704358A>C	uc003vjq.3	+	5	1054	c.607A>C	c.(607-609)AGA>CGA	p.R203R	C7orf58_uc003vjr.1_Silent_p.R203R|C7orf58_uc003vjs.3_Silent_p.R203R|C7orf58_uc003vjt.3_5'UTR	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	203						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					AATAGTTAGAAGATTCCCAGG	0.418													C	120704358	A	C	120704358	2	2	104	1	0	0	0	0	0	0	0	1	2405	64	3	5		5	C7orf58	7	120704358	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	110963	120704358	38434305	3177	69791											
C7orf58	79974	broad.mit.edu	37	chr7	120739989	120739989	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttttttttaggaatgaaacGacagtccttgctccacatga	7	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:120739989G>A	uc003vjq.3	+	7	1206	c.759G>A	c.(757-759)ACG>ACA	p.T253T	C7orf58_uc003vjr.1_Silent_p.T253T|C7orf58_uc003vjs.3_Silent_p.T253T|C7orf58_uc003vjt.3_Silent_p.T33T|C7orf58_uc010lkk.1_Silent_p.T33T	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	253						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					GGAATGAAACGACAGTCCTTG	0.378													A	120739989	G	A	120739989	2	1	104	1	0	0	0	0	0	0	0	1	2405	1045	37	1		1	C7orf58	7	120739989	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	35631	120739989	38398674	3178	69792											
C7orf58	79974	broad.mit.edu	37	chr7	120935617	120935617	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggcactgtaacaaattttCgatcgccatatcatgtcaga	7	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:120935617C>T	uc003vjq.3	+	23	3439	c.2992C>T	c.(2992-2994)CGA>TGA	p.R998*		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	998						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					AACAAATTTTCGATCGCCATA	0.358													T	120935617	C	T	120935617	4	4	104	1	0	0	0	0	0	1	0	0	2405	876	31	1	3124	1	C7orf58	7	120935617	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	195628	120935617	38203046	3179	69793											
WNT16	51384	broad.mit.edu	37	chr7	120978940	120978940	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactgttggtttcaggctgtCgccaagttgatgtcagtaga	12	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:120978940C>T	uc003vjw.2	+	4	896	c.639C>T	c.(637-639)GTC>GTT	p.V213V	WNT16_uc003vjv.2_Silent_p.V203V|WNT16_uc010lkl.2_5'UTR	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family,	213					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			lung(2)|ovary(2)|large_intestine(1)	5	all_neural(327;0.117)					TTCAGGCTGTCGCCAAGTTGA	0.388													T	120978940	C	T	120978940	2	4	104	1	0	0	0	0	0	0	0	1	17382	871	31	1		1	WNT16	7	120978940	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	43323	120978940	38159723	3180	69794											
PTPRZ1	5803	broad.mit.edu	37	chr7	121608065	121608065	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgtaatagcccaaaacaatCtcctatcaatattgatgaag	5	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:121608065C>A	uc003vjy.2	+	3	580	c.185C>A	c.(184-186)TCT>TAT	p.S62Y	PTPRZ1_uc003vjz.2_Missense_Mutation_p.S62Y	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	62	Extracellular (Potential).|Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						CCAAAACAATCTCCTATCAAT	0.303													A	121608065	C	A	121608065	3	1	104	1	0	0	0	0	1	0	0	0	12814	913	32	5	195	5	PTPRZ1	7	121608065	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	629125	121608065	37530598	3181	69795											
PTPRZ1	5803	broad.mit.edu	37	chr7	121651597	121651597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttcagtagtgaattgtttCgccatctgcatacagtttct	7	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:121651597C>T	uc003vjy.2	+	12	2892	c.2497C>T	c.(2497-2499)CGC>TGC	p.R833C	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	833	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						TGAATTGTTTCGCCATCTGCA	0.468													T	121651597	C	T	121651597	3	4	104	1	0	0	0	0	1	0	0	0	12814	884	31	1	2543	1	PTPRZ1	7	121651597	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	43532	121651597	37487066	3182	69796											
PTPRZ1	5803	broad.mit.edu	37	chr7	121653537	121653537	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atctcatactcactatctgaGaattctgaagaagataatag	6	7	4	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:121653537G>T	uc003vjy.2	+	12	4832	c.4437G>T	c.(4435-4437)GAG>GAT	p.E1479D	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1479	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						CACTATCTGAGAATTCTGAAG	0.398													T	121653537	G	T	121653537	3	4	104	1	0	0	0	0	1	0	0	0	12814	933	33	5	4483	5	PTPRZ1	7	121653537	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1940	121653537	37485126	3183	69797											
TAS2R16	50833	broad.mit.edu	37	chr7	122635462	122635462	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgttaagttgcaaagtacaTaattcaaattaaaataggag	7	3	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:122635462T>C	uc003vkl.1	-	1	293	c.227A>G	c.(226-228)TAT>TGT	p.Y76C		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	76	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2						GCAAAGTACATAATTCAAATT	0.393													C	122635462	T	C	122635462	3	2	104	1	0	0	0	0	1	0	0	0	15566	1406	49	3	652	3	TAS2R16	7	122635462	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	981925	122635462	36503201	3184	69798											
IQUB	154865	broad.mit.edu	37	chr7	123109296	123109296	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttaagagttaacagcAcatccagcctctcatcttgg	8	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:123109296A>G	uc003vkn.2	-	9	2130	c.1553T>C	c.(1552-1554)GTG>GCG	p.V518A	IQUB_uc003vko.2_Missense_Mutation_p.V518A|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Missense_Mutation_p.V518A	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	518										ovary(3)|large_intestine(1)	4						AGTTAACAGCACATCCAGCCT	0.358													G	123109296	A	G	123109296	3	3	104	1	0	0	0	0	1	0	0	0	7820	159	6	3	842	3	IQUB	7	123109296	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	473834	123109296	36029367	3185	69799											
IQUB	154865	broad.mit.edu	37	chr7	123109360	123109360	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttatagatattttgcagctCtctggctctgatggtgaact	9	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:123109360C>A	uc003vkn.2	-	9	2066	c.1489G>T	c.(1489-1491)GAG>TAG	p.E497*	IQUB_uc003vko.2_Nonsense_Mutation_p.E497*|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Nonsense_Mutation_p.E497*	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	497										ovary(3)|large_intestine(1)	4						TTTTGCAGCTCTCTGGCTCTG	0.358													A	123109360	C	A	123109360	4	1	104	1	0	0	0	0	0	1	0	0	7820	922	32	5	906	5	IQUB	7	123109360	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	64	123109360	36029303	3186	69800											
ASB15	142685	broad.mit.edu	37	chr7	123276892	123276892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttcattgaagcatttgtgtCggttaaaaattcgaaggctt	10	5	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:123276892C>T	uc003vku.1	+	12	1916	c.1624C>T	c.(1624-1626)CGG>TGG	p.R542W	ASB15_uc003vkw.1_Missense_Mutation_p.R542W	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	542	SOCS box.				intracellular signal transduction					skin(2)|lung(1)	3						GCATTTGTGTCGGTTAAAAAT	0.378													T	123276892	C	T	123276892	3	4	104	1	0	0	0	0	1	0	0	0	1019	875	31	1	1658	1	ASB15	7	123276892	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	167532	123276892	35861771	3187	69801											
HYAL4	23553	broad.mit.edu	37	chr7	123509153	123509153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacagtgaaaacattttgCgcttctccaaatttcgggtg	10	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:123509153C>T	uc003vlc.2	+	3	1464	c.826C>T	c.(826-828)CGC>TGC	p.R276C	HYAL4_uc011knz.1_Missense_Mutation_p.R276C	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	276	Extracellular (Potential).				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			skin(1)	1						AAACATTTTGCGCTTCTCCAA	0.458													T	123509153	C	T	123509153	3	4	104	1	0	0	0	0	1	0	0	0	7466	768	27	1	828	1	HYAL4	7	123509153	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	232261	123509153	35629510	3188	69802											
SPAM1	6677	broad.mit.edu	37	chr7	123599570	123599570	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcctagacaattacatggaGactatactgaatccttacat	5	10	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:123599570G>T	uc003vld.2	+	6	1479	c.1077G>T	c.(1075-1077)GAG>GAT	p.E359D	SPAM1_uc003vle.2_Missense_Mutation_p.E359D|SPAM1_uc011koa.1_Missense_Mutation_p.E15D|SPAM1_uc003vlf.3_Missense_Mutation_p.E359D|SPAM1_uc010lku.2_Missense_Mutation_p.E359D	NM_153189	NP_694859	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 2	359					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)	ATTACATGGAGACTATACTGA	0.363													T	123599570	G	T	123599570	3	4	104	1	0	0	0	0	1	0	0	0	14986	933	33	5	1087	5	SPAM1	7	123599570	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	90417	123599570	35539093	3189	69803											
POT1	25913	broad.mit.edu	37	chr7	124503537	124503537	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatatgagtagatgcccaaAcacgtaaggcttctaccatt	7	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:124503537A>G	uc003vlm.2	-	8	1014	c.413T>C	c.(412-414)GTT>GCT	p.V138A	POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.V7A|POT1_uc003vln.2_RNA	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN	protection of telomeres 1 isoform 1	138					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			central_nervous_system(1)	1						AGATGCCCAAACACGTAAGGC	0.433													G	124503537	A	G	124503537	3	3	104	1	0	0	0	0	1	0	0	0	12260	43	2	3	1539	3	POT1	7	124503537	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	903967	124503537	34635126	3190	69804											
POT1	25913	broad.mit.edu	37	chr7	124537223	124537223	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgaatatcatcttaccaaaGacattgattctgtagaaaaa	5	7	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:124537223G>T	uc003vlm.2	-	5	606	c.5C>A	c.(4-6)TCT>TAT	p.S2Y	POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_5'UTR|POT1_uc003vln.2_RNA	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN	protection of telomeres 1 isoform 1	2					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			central_nervous_system(1)	1						TCTTACCAAAGACATTGATTC	0.299													T	124537223	G	T	124537223	3	4	104	1	0	0	0	0	1	0	0	0	12260	942	33	5	1959	5	POT1	7	124537223	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	33686	124537223	34601440	3191	69805											
GCC1	79571	broad.mit.edu	37	chr7	127222278	127222278	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtccctgatgttcttttcGatgtggctctgcagggctgc	13	10	2	1	rs141951933	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:127222278G>A	uc003vma.2	-	2	2536	c.2118C>T	c.(2116-2118)ATC>ATT	p.I706I		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Golgi coiled-coil protein 1	706	Potential.					Golgi membrane|plasma membrane	protein binding			ovary(2)	2						TGTTCTTTTCGATGTGGCTCT	0.592													A	127222278	G	A	127222278	2	1	104	1	0	0	0	0	0	0	0	1	6285	1048	37	1		1	GCC1	7	127222278	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2685055	127222278	31916385	3192	69806											
FSCN3	29999	broad.mit.edu	37	chr7	127235919	127235919	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgatggagaaggaggcatgTtatatccacagggcacgcat	14	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:127235919T>C	uc003vmd.1	+	2	922	c.703T>C	c.(703-705)TTA>CTA	p.L235L	FSCN3_uc003vmc.1_Silent_p.L190L|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Silent_p.L101L|FSCN3_uc010llc.1_Silent_p.L235L	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	235						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1						AGGAGGCATGTTATATCCACA	0.572													C	127235919	T	C	127235919	2	2	104	1	0	0	0	0	0	0	0	1	6069	1722	60	3		3	FSCN3	7	127235919	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	13641	127235919	31902744	3193	69807											
SND1	27044	broad.mit.edu	37	chr7	127725811	127725811	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctcctgccaaaatacatgtCttctacattgactacggcaa	5	12	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:127725811C>A	uc003vmi.2	+	20	2509	c.2283C>A	c.(2281-2283)GTC>GTA	p.V761V	SND1_uc010lle.2_Silent_p.V414V	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	761	Tudor.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						AAATACATGTCTTCTACATTG	0.537													A	127725811	C	A	127725811	2	1	104	1	0	0	0	0	0	0	0	1	14844	900	32	5		5	SND1	7	127725811	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	489892	127725811	31412852	3194	69808											
IMPDH1	3614	broad.mit.edu	37	chr7	128034631	128034631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcccgagacaccctgcgCgatcttcactttatccccct	8	17	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:128034631C>T	uc011kol.1	-	12	1424	c.1318G>A	c.(1318-1320)GCG>ACG	p.A440T	IMPDH1_uc011kom.1_Missense_Mutation_p.A435T|IMPDH1_uc003vmt.2_Missense_Mutation_p.A415T|IMPDH1_uc003vmu.2_Missense_Mutation_p.A525T|IMPDH1_uc003vmw.2_Missense_Mutation_p.A515T|IMPDH1_uc011kon.1_Missense_Mutation_p.A492T|IMPDH1_uc003vmv.2_Missense_Mutation_p.A489T|IMPDH1_uc003vmx.2_Missense_Mutation_p.A448T|IMPDH1_uc003vmy.2_Missense_Mutation_p.A456T|uc011koo.1_5'Flank	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	inosine monophosphate dehydrogenase 1 isoform e	440					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			skin(2)|lung(1)|central_nervous_system(1)	4					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	ACACCCTGCGCGATCTTCACT	0.587													T	128034631	C	T	128034631	3	4	104	1	0	0	0	0	1	0	0	0	7726	768	27	1	238	1	IMPDH1	7	128034631	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	308820	128034631	31104032	3195	69809											
FAM71F1	84691	broad.mit.edu	37	chr7	128366916	128366916	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggtggagaccaacaagAacagctcaggtaagggaggg	16	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:128366916A>C	uc003vno.1	+	5	897	c.844A>C	c.(844-846)AAC>CAC	p.N282H	FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.N181H|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Missense_Mutation_p.N280H	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	testes development-related NYD-SP18	282										skin(1)	1						GACCAACAAGAACAGCTCAGG	0.448													C	128366916	A	C	128366916	3	2	104	1	0	0	0	0	1	0	0	0	5612	246	9	5	862	5	FAM71F1	7	128366916	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	332285	128366916	30771747	3196	69810											
FLNC	2318	broad.mit.edu	37	chr7	128497188	128497188	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccaggtgtgtcatcagagttCatcgtgaacaccctgaatgc	10	11	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:128497188C>A	uc003vnz.3	+	46	7787	c.7578C>A	c.(7576-7578)TTC>TTA	p.F2526L	FLNC_uc003voa.3_Missense_Mutation_p.F2493L	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2526	Interaction with INPPL1.|Filamin 23.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CATCAGAGTTCATCGTGAACA	0.632													A	128497188	C	A	128497188	3	1	104	1	0	0	0	0	1	0	0	0	5935	825	29	5	7760	5	FLNC	7	128497188	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	130272	128497188	30641475	3197	69811											
SMO	6608	broad.mit.edu	37	chr7	128845085	128845085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaacagttcaggccagtgCgaagtgcccttggttcggac	12	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:128845085C>T	uc003vor.2	+	3	859	c.579C>T	c.(577-579)TGC>TGT	p.C193C	SMO_uc003vos.2_5'Flank	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	193	Extracellular (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						CAGGCCAGTGCGAAGTGCCCT	0.577			Mis		skin basal cell 								T	128845085	C	T	128845085	2	4	104	1	0	0	0	0	0	0	0	1	14800	776	27	1		1	SMO	7	128845085	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	347897	128845085	30293578	3198	69812											
SMO	6608	broad.mit.edu	37	chr7	128849216	128849216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaccaggctgagtgggagCgcagcttccgggactatgtg	15	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:128849216C>T	uc003vor.2	+	8	1724	c.1444C>T	c.(1444-1446)CGC>TGC	p.R482C	SMO_uc003vos.2_Missense_Mutation_p.R157C	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	482	Extracellular (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						TGAGTGGGAGCGCAGCTTCCG	0.592			Mis		skin basal cell 								T	128849216	C	T	128849216	3	4	104	1	0	0	0	0	1	0	0	0	14800	768	27	1	1474	1	SMO	7	128849216	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4131	128849216	30289447	3199	69813											
NRF1	4899	broad.mit.edu	37	chr7	129297378	129297378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatatactcaactccacaGcagctgatgaggtgacagct	9	11	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:129297378G>A	uc003voz.2	+	2	304	c.187G>A	c.(187-189)GCA>ACA	p.A63T	NRF1_uc003vpa.2_Missense_Mutation_p.A63T|NRF1_uc011kpa.1_5'UTR|NRF1_uc003vpb.2_Missense_Mutation_p.A63T	NM_005011	NP_005002	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	63	Dimerization.|Asp/Glu-rich (acidic).				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						CAACTCCACAGCAGCTGATGA	0.408													A	129297378	G	A	129297378	3	1	104	1	0	0	0	0	1	0	0	0	10646	971	34	2	189	2	NRF1	7	129297378	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	448162	129297378	29841285	3200	69814											
KLHDC10	23008	broad.mit.edu	37	chr7	129770576	129770576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacagggactcatcgaacGcttgaaatgaggatttctgg	11	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:129770576G>A	uc003vpj.1	+	10	1454	c.1319G>A	c.(1318-1320)CGC>CAC	p.R440H	KLHDC10_uc003vpk.1_Missense_Mutation_p.R411H|KLHDC10_uc010lmb.1_Missense_Mutation_p.R337H	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	kelch domain containing 10	440											0						CTCATCGAACGCTTGAAATGA	0.453													A	129770576	G	A	129770576	3	1	104	1	0	0	0	0	1	0	0	0	8355	1087	38	1	1357	1	KLHDC10	7	129770576	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	473198	129770576	29368087	3201	69815											
CPA2	1358	broad.mit.edu	37	chr7	129910557	129910557	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgttggacaaagagaatgaaGaaatgctttttaataggaga	11	2	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:129910557G>T	uc003vpq.2	+	4	332	c.313G>T	c.(313-315)GAA>TAA	p.E105*	CPA2_uc011kpc.1_Nonsense_Mutation_p.E105*	NM_001869	NP_001860	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic) precursor	105					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					AGAGAATGAAGAAATGCTTTT	0.393													T	129910557	G	T	129910557	4	4	104	1	0	0	0	0	0	1	0	0	3790	943	33	5	327	5	CPA2	7	129910557	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	139981	129910557	29228106	3202	69816											
TSGA13	114960	broad.mit.edu	37	chr7	130356562	130356562	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agctgagggtacattttcttCtgtgtcctcaaagcgtagac	10	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:130356562C>T	uc003vqi.2	-	7	1054	c.597G>A	c.(595-597)CAG>CAA	p.Q199Q	COPG2_uc003vqh.1_5'Flank|TSGA13_uc003vqj.2_Silent_p.Q199Q	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	testis specific, 13	199										ovary(2)	2	Melanoma(18;0.0435)					ACATTTTCTTCTGTGTCCTCA	0.413													T	130356562	C	T	130356562	2	4	104	1	0	0	0	0	0	0	0	1	16616	912	32	4		4	TSGA13	7	130356562	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	446005	130356562	28782101	3203	69817											
MKLN1	4289	broad.mit.edu	37	chr7	131084189	131084189	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgattgaaaaggctgtaAatggtatgaaacttagattg	11	2	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:131084189A>C	uc011kpm.1	+	6	764	c.700A>C	c.(700-702)AAT>CAT	p.N234H	MKLN1_uc011kpl.1_Missense_Mutation_p.N211H|MKLN1_uc010lmh.2_Missense_Mutation_p.N234H|MKLN1_uc003vqs.2_Missense_Mutation_p.N27H	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing	234	CTLH.				signal transduction	cytoplasm	protein binding			breast(1)	1	Melanoma(18;0.162)					AAAGGCTGTAAATGGTATGAA	0.348													C	131084189	A	C	131084189	3	2	104	1	0	0	0	0	1	0	0	0	9603	14	1	5	755	5	MKLN1	7	131084189	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	727627	131084189	28054474	3204	69818											
EXOC4	60412	broad.mit.edu	37	chr7	133502136	133502136	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagccaaacagtgtcctcttCgagagtttctcaccgtgtac	8	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:133502136C>T	uc003vrk.2	+	11	1608	c.1573C>T	c.(1573-1575)CGA>TGA	p.R525*	EXOC4_uc011kpo.1_Nonsense_Mutation_p.R424*|EXOC4_uc003vrl.2_Nonsense_Mutation_p.R135*|EXOC4_uc011kpp.1_Nonsense_Mutation_p.R57*	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	525					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				GTGTCCTCTTCGAGAGTTTCT	0.413													T	133502136	C	T	133502136	4	4	104	1	0	0	0	0	0	1	0	0	5306	876	31	1	1624	1	EXOC4	7	133502136	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2417947	133502136	25636527	3205	69819											
EXOC4	60412	broad.mit.edu	37	chr7	133749115	133749115	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaccagggtgtgaagtAcacggagctggagtacatcc	16	8	0	1	rs138103779		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:133749115A>G	uc003vrk.2	+	18	2794	c.2759A>G	c.(2758-2760)TAC>TGC	p.Y920C	EXOC4_uc011kpo.1_Missense_Mutation_p.Y819C|EXOC4_uc003vrl.2_Missense_Mutation_p.Y530C|EXOC4_uc011kpp.1_Missense_Mutation_p.Y452C|EXOC4_uc011kpq.1_Missense_Mutation_p.Y208C	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	920					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				GGTGTGAAGTACACGGAGCTG	0.572													G	133749115	A	G	133749115	3	3	104	1	0	0	0	0	1	0	0	0	5306	391	14	3	2838	3	EXOC4	7	133749115	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	246979	133749115	25389548	3206	69820											
LRGUK	136332	broad.mit.edu	37	chr7	133812199	133812199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcagatcccgaactggaGcccgatcgttacagtttcgc	12	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:133812199G>A	uc003vrm.1	+	1	95	c.79G>A	c.(79-81)GCC>ACC	p.A27T		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	27							ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5						CCGAACTGGAGCCCGATCGTT	0.572													A	133812199	G	A	133812199	3	1	104	1	0	0	0	0	1	0	0	0	8943	971	34	2	81	2	LRGUK	7	133812199	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	63084	133812199	25326464	3207	69821											
LRGUK	136332	broad.mit.edu	37	chr7	133859329	133859329	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgctgagctgagagaaataGaatacattaaaaatttaccc	7	6	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:133859329G>T	uc003vrm.1	+	8	977	c.961G>T	c.(961-963)GAA>TAA	p.E321*		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	321	LRR 9.						ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5						GAGAGAAATAGAATACATTAA	0.323													T	133859329	G	T	133859329	4	4	104	1	0	0	0	0	0	1	0	0	8943	943	33	5	991	5	LRGUK	7	133859329	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	47130	133859329	25279334	3208	69822											
LRGUK	136332	broad.mit.edu	37	chr7	133884125	133884125	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagagtggacctttatattAaaattaatcagaattttccg	6	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:133884125A>C	uc003vrm.1	+	14	1715	c.1699A>C	c.(1699-1701)AAA>CAA	p.K567Q		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	567	Guanylate kinase-like.						ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5						CCTTTATATTAAAATTAATCA	0.333													C	133884125	A	C	133884125	3	2	104	1	0	0	0	0	1	0	0	0	8943	363	13	5	1753	5	LRGUK	7	133884125	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	24796	133884125	25254538	3209	69823											
SLC35B4	84912	broad.mit.edu	37	chr7	133979591	133979591	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actccagacaggcctcagttCttcttgctgtccttctgagg	9	13	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:133979591C>A	uc003vrn.2	-	10	1314	c.990G>T	c.(988-990)AAG>AAT	p.K330N	SLC35B4_uc010lmk.2_Missense_Mutation_p.K194N|SLC35B4_uc010lml.1_Intron	NM_032826	NP_116215	Q969S0	S35B4_HUMAN	solute carrier family 35, member B4	330						Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			skin(1)	1						GGCCTCAGTTCTTCTTGCTGT	0.527													A	133979591	C	A	133979591	3	1	104	1	0	0	0	0	1	0	0	0	14578	912	32	5	9	5	SLC35B4	7	133979591	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	95466	133979591	25159072	3210	69824											
BPGM	669	broad.mit.edu	37	chr7	134346766	134346766	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gagagactccttccctattgGaatgaaaggattgctcccga	10	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:134346766G>T	uc003vrv.2	+	3	1048	c.507G>T	c.(505-507)TGG>TGT	p.W169C	BPGM_uc003vrw.2_Missense_Mutation_p.W169C|BPGM_uc003vrx.2_Missense_Mutation_p.W169C	NM_199186	NP_954655	P07738	PMGE_HUMAN	bisphosphoglycerate mutase	169					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity				0						TTCCCTATTGGAATGAAAGGA	0.468													T	134346766	G	T	134346766	3	4	104	1	0	0	0	0	1	0	0	0	1488	1183	41	5	509	5	BPGM	7	134346766	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	367175	134346766	24791897	3211	69825											
CALD1	800	broad.mit.edu	37	chr7	134552495	134552495	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatcacaccatggatgattTtgagcgtcgcagagaactta	9	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:134552495T>G	uc003vrz.2	+	3	470	c.11T>G	c.(10-12)TTT>TGT	p.F4C	CALD1_uc003vry.2_Missense_Mutation_p.F4C|CALD1_uc003vsa.2_Missense_Mutation_p.F4C|CALD1_uc003vsb.2_Missense_Mutation_p.F4C|CALD1_uc010lmm.2_Missense_Mutation_p.F4C|CALD1_uc011kpt.1_5'UTR	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	4					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						ATGGATGATTTTGAGCGTCGC	0.433													G	134552495	T	G	134552495	3	3	104	1	0	0	0	0	1	0	0	0	2581	1841	64	5	13	5	CALD1	7	134552495	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	205729	134552495	24586168	3212	69826											
CALD1	800	broad.mit.edu	37	chr7	134613557	134613557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggcagcccgggaacggCgccgccgagcccgacaggaa	17	14	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:134613557C>T	uc003vrz.2	+	4	583	c.124C>T	c.(124-126)CGC>TGC	p.R42C	CALD1_uc003vry.2_Missense_Mutation_p.R42C|CALD1_uc003vsa.2_Missense_Mutation_p.R42C|CALD1_uc003vsb.2_Missense_Mutation_p.R42C|CALD1_uc010lmm.2_Missense_Mutation_p.R42C|CALD1_uc011kpt.1_5'UTR|CALD1_uc003vsc.2_Missense_Mutation_p.R36C|CALD1_uc003vsd.2_Missense_Mutation_p.R36C|CALD1_uc011kpu.1_Missense_Mutation_p.R47C|CALD1_uc011kpv.1_5'UTR	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	42	Poly-Arg.|Myosin and calmodulin-binding (By similarity).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						CCGGGAACGGCGCCGCCGAGC	0.587													T	134613557	C	T	134613557	3	4	104	1	0	0	0	0	1	0	0	0	2581	768	27	1	187	1	CALD1	7	134613557	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	61062	134613557	24525106	3213	69827											
CALD1	800	broad.mit.edu	37	chr7	134618087	134618087	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaagaaagaagacaaggaAaaggaggaggaggaagagga	16	2	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:134618087A>C	uc003vrz.2	+	5	1026	c.567A>C	c.(565-567)GAA>GAC	p.E189D	CALD1_uc003vry.2_Missense_Mutation_p.E189D|CALD1_uc003vsa.2_Missense_Mutation_p.E189D|CALD1_uc003vsb.2_Missense_Mutation_p.E189D|CALD1_uc010lmm.2_Missense_Mutation_p.E189D|CALD1_uc011kpt.1_5'UTR|CALD1_uc003vsc.2_Missense_Mutation_p.E183D|CALD1_uc003vsd.2_Missense_Mutation_p.E183D|CALD1_uc011kpu.1_Missense_Mutation_p.E194D|CALD1_uc011kpv.1_Missense_Mutation_p.E53D|CALD1_uc003vse.2_Missense_Mutation_p.E53D	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	189	Poly-Glu.|Myosin and calmodulin-binding (By similarity).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						aagacaaggaaaaggaggagg	0.214													C	134618087	A	C	134618087	3	2	104	1	0	0	0	0	1	0	0	0	2581	11	1	5	634	5	CALD1	7	134618087	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	4530	134618087	24520576	3214	69828											
C7orf49	78996	broad.mit.edu	37	chr7	134852550	134852550	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgcagtacacagtccttgtCgcagggagtctgaaaaaaag	11	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:134852550C>T	uc003vsl.2	-	3	414	c.147G>A	c.(145-147)GCG>GCA	p.A49A	C7orf49_uc003vsh.2_Intron|C7orf49_uc003vsj.2_Silent_p.A20A|C7orf49_uc003vsk.2_RNA|C7orf49_uc003vsm.2_RNA|C7orf49_uc003vsn.2_Silent_p.A48A|C7orf49_uc003vso.2_5'UTR	NM_024033	NP_076938	Q9BWK5	MRI_HUMAN	modulator of retrovirus infection	49						cytoplasm				large_intestine(1)|ovary(1)	2						CAGTCCTTGTCGCAGGGAGTC	0.483													T	134852550	C	T	134852550	2	4	104	1	0	0	0	0	0	0	0	1	2398	871	31	1		1	C7orf49	7	134852550	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	234463	134852550	24286113	3215	69829											
FAM180A	389558	broad.mit.edu	37	chr7	135418926	135418926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggagaggctggcgctgaGccggcggatgtctgggatgc	20	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:135418926G>A	uc003vtd.2	-	3	585	c.319C>T	c.(319-321)CTC>TTC	p.L107F	FAM180A_uc010lmt.2_RNA|FAM180A_uc010lmu.2_Missense_Mutation_p.L107F	NM_205855	NP_995327	Q6UWF9	F180A_HUMAN	hypothetical protein LOC389558 precursor	107						extracellular region				ovary(2)	2						CTGGCGCTGAGCCGGCGGATG	0.607													A	135418926	G	A	135418926	3	1	104	1	0	0	0	0	1	0	0	0	5507	971	34	2	206	2	FAM180A	7	135418926	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	566376	135418926	23719737	3216	69830											
CHRM2	1129	broad.mit.edu	37	chr7	136700761	136700761	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctcctccttcccgggaaaaGaaagtcaccaggacaatctt	7	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:136700761G>T	uc003vtf.1	+	4	1772	c.1149G>T	c.(1147-1149)AAG>AAT	p.K383N	CHRM2_uc003vtg.1_Missense_Mutation_p.K383N|CHRM2_uc003vtj.1_Missense_Mutation_p.K383N|CHRM2_uc003vtk.1_Missense_Mutation_p.K383N|CHRM2_uc003vtl.1_Missense_Mutation_p.K383N|CHRM2_uc003vtm.1_Missense_Mutation_p.K383N|CHRM2_uc003vti.1_Missense_Mutation_p.K383N|CHRM2_uc003vto.1_Missense_Mutation_p.K383N|CHRM2_uc003vtn.1_Missense_Mutation_p.K383N|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	383	Cytoplasmic (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CCCGGGAAAAGAAAGTCACCA	0.458													T	136700761	G	T	136700761	3	4	104	1	0	0	0	0	1	0	0	0	3377	933	33	5	1151	5	CHRM2	7	136700761	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1281835	136700761	22437902	3217	69831											
AKR1D1	6718	broad.mit.edu	37	chr7	137761318	137761318	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaagtgatggaaacagcatTcccatcatcggacttggtac	9	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:137761318T>C	uc003vtz.2	+	1	123	c.54T>C	c.(52-54)ATT>ATC	p.I18I	AKR1D1_uc011kqb.1_Silent_p.I18I|AKR1D1_uc011kqc.1_Intron|AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqe.1_Silent_p.I18I|AKR1D1_uc011kqf.1_Silent_p.I18I	NM_005989	NP_005980	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	18					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			skin(1)	1						GAAACAGCATTCCCATCATCG	0.433													C	137761318	T	C	137761318	2	2	104	1	0	0	0	0	0	0	0	1	473	1771	62	3		3	AKR1D1	7	137761318	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1060557	137761318	21377345	3218	69832											
AKR1D1	6718	broad.mit.edu	37	chr7	137776597	137776597	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccagctagattatgtggaTctttacatcattgaagtacc	7	9	2	2	rs146747335		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:137776597T>G	uc003vtz.2	+	3	414	c.345T>G	c.(343-345)GAT>GAG	p.D115E	AKR1D1_uc011kqb.1_Missense_Mutation_p.D115E|AKR1D1_uc011kqc.1_RNA|AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqe.1_Missense_Mutation_p.D115E|AKR1D1_uc011kqf.1_Missense_Mutation_p.D115E|AKR1D1_uc010lmy.1_RNA	NM_005989	NP_005980	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	115					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			skin(1)	1						ATTATGTGGATCTTTACATCA	0.493													G	137776597	T	G	137776597	3	3	104	1	0	0	0	0	1	0	0	0	473	1432	50	5	355	5	AKR1D1	7	137776597	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	15279	137776597	21362066	3219	69833											
TRIM24	8805	broad.mit.edu	37	chr7	138223421	138223421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccttgcaaaggaccatcGcatgaaacttatgcaacaac	8	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:138223421G>A	uc003vuc.2	+	7	1231	c.1016G>A	c.(1015-1017)CGC>CAC	p.R339H	TRIM24_uc003vub.2_Missense_Mutation_p.R339H	NM_015905	NP_056989	O15164	TIF1A_HUMAN	transcriptional intermediary factor 1 alpha	339	Potential.				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						AAGGACCATCGCATGAAACTT	0.388													A	138223421	G	A	138223421	3	1	104	1	0	0	0	0	1	0	0	0	16495	1087	38	1	1042	1	TRIM24	7	138223421	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	446824	138223421	20915242	3220	69834											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138413516	138413516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccttacctgggatttcCgatgactggctctaagaata	9	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:138413516C>T	uc003vuf.2	-	17	2238	c.2000G>A	c.(1999-2001)CGG>CAG	p.R667Q	ATP6V0A4_uc003vug.2_Missense_Mutation_p.R667Q|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.R667Q	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	667	Cytoplasmic (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1						CTGGGATTTCCGATGACTGGC	0.433													T	138413516	C	T	138413516	3	4	104	1	0	0	0	0	1	0	0	0	1170	652	23	1	542	1	ATP6V0A4	7	138413516	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	190095	138413516	20725147	3221	69835											
KIAA1549	57670	broad.mit.edu	37	chr7	138602923	138602923	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggtctggaggggaaaagCgtattaaatacttgaggatc	13	4	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:138602923C>T	uc011kql.1	-	2	1498	c.1449G>A	c.(1447-1449)ACG>ACA	p.T483T	KIAA1549_uc003vuk.3_Silent_p.T433T|KIAA1549_uc011kqj.1_Silent_p.T483T	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	483						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						AGGGGAAAAGCGTATTAAATA	0.458			O	BRAF	pilocytic astrocytoma								T	138602923	C	T	138602923	2	4	104	1	0	0	0	0	0	0	0	1	8244	755	27	1		1	KIAA1549	7	138602923	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	189407	138602923	20535740	3222	69836											
KIAA1549	57670	broad.mit.edu	37	chr7	138603839	138603839	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccctggtgggctgactgtgAtatactgtattggagaaacc	13	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:138603839A>G	uc011kql.1	-	2	582	c.533T>C	c.(532-534)ATC>ACC	p.I178T	KIAA1549_uc003vuk.3_Missense_Mutation_p.I128T|KIAA1549_uc011kqj.1_Missense_Mutation_p.I178T	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	178						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						GCTGACTGTGATATACTGTAT	0.488			O	BRAF	pilocytic astrocytoma								G	138603839	A	G	138603839	3	3	104	1	0	0	0	0	1	0	0	0	8244	333	12	3	5395	3	KIAA1549	7	138603839	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	916	138603839	20534824	3223	69837											
TTC26	79989	broad.mit.edu	37	chr7	138824735	138824735	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatgtataaacaagctgaaGcagctggatttaaaggtaaa	11	4	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:138824735G>T	uc003vus.2	+	4	448	c.334G>T	c.(334-336)GCA>TCA	p.A112S	TTC26_uc003vuq.2_Missense_Mutation_p.A112S|TTC26_uc011kqm.1_Missense_Mutation_p.A112S|TTC26_uc003vur.3_Missense_Mutation_p.A112S|TTC26_uc011kqn.1_Missense_Mutation_p.A112S|TTC26_uc011kqo.1_Missense_Mutation_p.A81S|TTC26_uc011kqp.1_Missense_Mutation_p.A7S|TTC26_uc003vut.2_5'UTR|TTC26_uc011kqq.1_Missense_Mutation_p.A112S	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26 isoform 1	112	TPR 2.						binding			ovary(1)	1						ACAAGCTGAAGCAGCTGGATT	0.338													T	138824735	G	T	138824735	3	4	104	1	0	0	0	0	1	0	0	0	16691	971	34	5	348	5	TTC26	7	138824735	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	220896	138824735	20313928	3224	69838											
UBN2	254048	broad.mit.edu	37	chr7	138954206	138954206	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctactcccaccttgaagcTtttgtgccatgcaataaaga	7	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:138954206T>G	uc011kqr.1	+	8	1533	c.1533T>G	c.(1531-1533)GCT>GCG	p.A511A	UBN2_uc003vuv.2_Silent_p.A234A	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	511										ovary(1)|skin(1)	2						ACCTTGAAGCTTTTGTGCCAT	0.393													G	138954206	T	G	138954206	2	3	104	1	0	0	0	0	0	0	0	1	16890	1596	56	5		5	UBN2	7	138954206	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	129471	138954206	20184457	3225	69839											
UBN2	254048	broad.mit.edu	37	chr7	138954246	138954246	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacactagtaaaacgtctgAagaagttacatctcaatgtc	6	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:138954246A>C	uc011kqr.1	+	8	1573	c.1573A>C	c.(1573-1575)AAG>CAG	p.K525Q	UBN2_uc003vuv.2_Missense_Mutation_p.K248Q	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	525										ovary(1)|skin(1)	2						AAAACGTCTGAAGAAGTTACA	0.408													C	138954246	A	C	138954246	3	2	104	1	0	0	0	0	1	0	0	0	16890	247	9	5	1603	5	UBN2	7	138954246	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	40	138954246	20184417	3226	69840											
SLC37A3	84255	broad.mit.edu	37	chr7	140045060	140045060	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgatggacttatcatttggaGaacctgtgagggaagacaca	12	6	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:140045060G>T	uc003vvo.2	-	12	1296	c.1130C>A	c.(1129-1131)TCT>TAT	p.S377Y	SLC37A3_uc003vvn.2_5'Flank|SLC37A3_uc003vvp.2_Intron|SLC37A3_uc010lnh.2_Intron	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	solute carrier family 37 (glycerol-3-phosphate	377	Helical; (Potential).				carbohydrate transport|transmembrane transport	integral to membrane				ovary(3)	3	Melanoma(164;0.0142)					ATCATTTGGAGAACCTGTGAG	0.498													T	140045060	G	T	140045060	3	4	104	1	0	0	0	0	1	0	0	0	14599	942	33	5	519	5	SLC37A3	7	140045060	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1090814	140045060	19093603	3227	69841											
BRAF	673	broad.mit.edu	37	chr7	140501256	140501256	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagtggaacttctgtactAcaacgctggtgaaatttata	8	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:140501256A>G	uc003vwc.3	-	6	877	c.816T>C	c.(814-816)TGT>TGC	p.C272C		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	272	Phorbol-ester/DAG-type.	Zinc 2 (By similarity).			activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	CTTCTGTACTACAACGCTGGT	0.348		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				G	140501256	A	G	140501256	2	3	104	1	0	0	0	0	0	0	0	1	1496	389	14	3		3	BRAF	7	140501256	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	456196	140501256	18637407	3228	69842											
MRPS33	51650	broad.mit.edu	37	chr7	140706259	140706259	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttgctgctcttttcccttCtcctttctttggtttctcct	4	13	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:140706259C>T	uc003vwd.3	-	3	448	c.292G>A	c.(292-294)GAA>AAA	p.E98K	MRPS33_uc003vwe.3_Missense_Mutation_p.E98K	NM_016071	NP_057155	Q9Y291	RT33_HUMAN	mitochondrial ribosomal protein S33	98					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome				0	Melanoma(164;0.00956)					CTTTTCCCTTCTCCTTTCTTT	0.403													T	140706259	C	T	140706259	3	4	104	1	0	0	0	0	1	0	0	0	9842	922	32	4	32	4	MRPS33	7	140706259	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	205003	140706259	18432404	3229	69843											
OR9A4	130075	broad.mit.edu	37	chr7	141618771	141618771	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttttgctatattcttcttTttctacttggtgacattaat	4	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:141618771T>G	uc003vwu.1	+	1	96	c.96T>G	c.(94-96)TTT>TTG	p.F32L		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	Melanoma(164;0.0171)					TATTCTTCTTTTTCTACTTGG	0.403													G	141618771	T	G	141618771	3	3	104	1	0	0	0	0	1	0	0	0	11249	1838	64	5	98	5	OR9A4	7	141618771	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	912512	141618771	17519892	3230	69844											
MGAM	8972	broad.mit.edu	37	chr7	141705352	141705352	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcaagaaagaagctgaaaAaatttactactttggagatt	9	4	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:141705352A>C	uc003vwy.2	+	2	76	c.22A>C	c.(22-24)AAA>CAA	p.K8Q		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	8	Cytoplasmic (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAAGCTGAAAAAATTTACTAC	0.279													C	141705352	A	C	141705352	3	2	104	1	0	0	0	0	1	0	0	0	9541	15	1	5	24	5	MGAM	7	141705352	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	86581	141705352	17433311	3231	69845											
EPHB6	2051	broad.mit.edu	37	chr7	142568100	142568100	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttgaccagctggtggctgCatttgacaagatgatccgca	11	9	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:142568100C>A	uc011kst.1	+	18	3528	c.2741C>A	c.(2740-2742)GCA>GAA	p.A914E	EPHB6_uc011ksu.1_Missense_Mutation_p.A914E|EPHB6_uc003wbs.2_Missense_Mutation_p.A622E|EPHB6_uc003wbt.2_Missense_Mutation_p.A388E|EPHB6_uc003wbu.2_Missense_Mutation_p.A622E|EPHB6_uc003wbv.2_Missense_Mutation_p.A298E	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	914	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					CTGGTGGCTGCATTTGACAAG	0.607													A	142568100	C	A	142568100	3	1	104	1	0	0	0	0	1	0	0	0	5178	710	25	5	2795	5	EPHB6	7	142568100	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	862748	142568100	16570563	3232	69846											
TRPV6	55503	broad.mit.edu	37	chr7	142583225	142583225	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaacttgctccataggcagaGaattagccctttctccttgg	9	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:142583225G>T	uc003wbx.1	-	1	253	c.37C>A	c.(37-39)CTC>ATC	p.L13I		NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	13	Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					CATAGGCAGAGAATTAGCCCT	0.612													T	142583225	G	T	142583225	3	4	104	1	0	0	0	0	1	0	0	0	16597	942	33	5	2200	5	TRPV6	7	142583225	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	15125	142583225	16555438	3233	69847											
TRPV5	56302	broad.mit.edu	37	chr7	142611833	142611833	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcaaatcccaagatgaccAcagccatcagccagcagaaa	8	13	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:142611833A>G	uc003wby.1	-	12	1760	c.1496T>C	c.(1495-1497)GTG>GCG	p.V499A		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	499	Helical; (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					CAAGATGACCACAGCCATCAG	0.468													G	142611833	A	G	142611833	3	3	104	1	0	0	0	0	1	0	0	0	16596	159	6	3	709	3	TRPV5	7	142611833	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	28608	142611833	16526830	3234	69848											
TRPV5	56302	broad.mit.edu	37	chr7	142622683	142622683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgagtgcggttgccaccacGaaacttaagggggcggtaga	15	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:142622683G>A	uc003wby.1	-	8	1327	c.1063C>T	c.(1063-1065)CGT>TGT	p.R355C	TRPV5_uc003wbz.2_Missense_Mutation_p.R355C	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	355	Extracellular (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.R355L(1)|p.R355H(1)		ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					TTGCCACCACGAAACTTAAGG	0.517													A	142622683	G	A	142622683	3	1	104	1	0	0	0	0	1	0	0	0	16596	1058	37	1	1158	1	TRPV5	7	142622683	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	10850	142622683	16515980	3235	69849											
TRPV5	56302	broad.mit.edu	37	chr7	142625919	142625919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacatctggcaggcaaagGttttgttgggctggaggatg	16	5	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:142625919G>A	uc003wby.1	-	6	893	c.629C>T	c.(628-630)ACC>ATC	p.T210I	TRPV5_uc003wbz.2_Missense_Mutation_p.T210I	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	210	Cytoplasmic (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					GCAGGCAAAGGTTTTGTTGGG	0.572													A	142625919	G	A	142625919	3	1	104	1	0	0	0	0	1	0	0	0	16596	1261	44	4	1600	4	TRPV5	7	142625919	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3236	142625919	16512744	3236	69850											
TRPV5	56302	broad.mit.edu	37	chr7	142626165	142626165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatgctcaatgagcagccGcacgatctcctcgctgttca	8	15	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:142626165G>A	uc003wby.1	-	5	802	c.538C>T	c.(538-540)CGG>TGG	p.R180W	TRPV5_uc003wbz.2_Missense_Mutation_p.R180W	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	180	ANK 4.|Cytoplasmic (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					ATGAGCAGCCGCACGATCTCC	0.612													A	142626165	G	A	142626165	3	1	104	1	0	0	0	0	1	0	0	0	16596	1086	38	1	1695	1	TRPV5	7	142626165	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	246	142626165	16512498	3237	69851											
CLCN1	1180	broad.mit.edu	37	chr7	143047729	143047729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatggggaagctcaggggCgtcctggccctggaggaggt	19	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:143047729C>T	uc003wcr.1	+	22	2664	c.2577C>T	c.(2575-2577)GGC>GGT	p.G859G	CLCN1_uc011ktc.1_Silent_p.G471G	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	859	CBS 2.|Cytoplasmic (By similarity).				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)					AGCTCAGGGGCGTCCTGGCCC	0.557													T	143047729	C	T	143047729	2	4	104	1	0	0	0	0	0	0	0	1	3462	755	27	1		1	CLCN1	7	143047729	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	421564	143047729	16090934	3238	69852											
ZYX	7791	broad.mit.edu	37	chr7	143087027	143087027	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgagactgtgcgagtggTcgccctggacaagaacttcc	13	10	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:143087027T>C	uc003wcw.2	+	9	1726	c.1571T>C	c.(1570-1572)GTC>GCC	p.V524A	ZYX_uc011ktd.1_Missense_Mutation_p.V367A|ZYX_uc003wcx.2_Missense_Mutation_p.V524A|ZYX_uc011kte.1_Missense_Mutation_p.V493A|ZYX_uc011ktf.1_Missense_Mutation_p.V367A	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN	zyxin	524	LIM zinc-binding 3.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding				0	Melanoma(164;0.205)					GTGCGAGTGGTCGCCCTGGAC	0.607													C	143087027	T	C	143087027	3	2	104	1	0	0	0	0	1	0	0	0	18251	1667	58	3	1601	3	ZYX	7	143087027	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	39298	143087027	16051636	3239	69853											
FAM115A	9747	broad.mit.edu	37	chr7	143573678	143573678	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaccattcataagggcctcGaaggcagcagagggagtcgc	13	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:143573678G>A	uc003wdo.1	-	2	157	c.24C>T	c.(22-24)TTC>TTT	p.F8F	FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Silent_p.F8F	NM_014719	NP_055534	Q9Y4C2	F115A_HUMAN	hypothetical protein LOC9747	8											0	Melanoma(164;0.0903)					TAAGGGCCTCGAAGGCAGCAG	0.468													A	143573678	G	A	143573678	2	1	104	1	0	0	0	0	0	0	0	1	5405	1049	37	1		1	FAM115A	7	143573678	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	486651	143573678	15564985	3240	69854											
OR2A2	442361	broad.mit.edu	37	chr7	143806743	143806743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggttggtccagcactggCgattctcctctgtggactct	11	13	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:143806743C>T	uc011ktz.1	+	1	68	c.68C>T	c.(67-69)GCG>GTG	p.A23V		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	23	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.0783)					CCAGCACTGGCGATTCTCCTC	0.512													T	143806743	C	T	143806743	3	4	104	1	0	0	0	0	1	0	0	0	10977	768	27	1	70	1	OR2A2	7	143806743	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	233065	143806743	15331920	3241	69855											
OR2A14	135941	broad.mit.edu	37	chr7	143826380	143826380	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaagcttcacacacccatgTacttcttcctctcacacctg	4	16	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:143826380T>C	uc011kua.1	+	1	175	c.175T>C	c.(175-177)TAC>CAC	p.Y59H		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A,	59	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)					CACACCCATGTACTTCTTCCT	0.483													C	143826380	T	C	143826380	3	2	104	1	0	0	0	0	1	0	0	0	10976	1638	57	3	177	3	OR2A14	7	143826380	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	19637	143826380	15312283	3242	69856											
OR2A14	135941	broad.mit.edu	37	chr7	143826408	143826408	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctcacacctggccattgTtgacatatcctatgcttcca	5	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:143826408T>C	uc011kua.1	+	1	203	c.203T>C	c.(202-204)GTT>GCT	p.V68A		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A,	68	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)					CTGGCCATTGTTGACATATCC	0.468													C	143826408	T	C	143826408	3	2	104	1	0	0	0	0	1	0	0	0	10976	1725	60	3	205	3	OR2A14	7	143826408	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	28	143826408	15312255	3243	69857											
NOBOX	135935	broad.mit.edu	37	chr7	144098471	144098471	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcctggagcgggctagagttCtgtctttgtggggagccctg	17	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:144098471C>A	uc011kue.1	-	4	512	c.512G>T	c.(511-513)AGA>ATA	p.R171I		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	171					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			ovary(1)	1	Melanoma(164;0.14)					GGCTAGAGTTCTGTCTTTGTG	0.632													A	144098471	C	A	144098471	3	1	104	1	0	0	0	0	1	0	0	0	10512	913	32	5	1495	5	NOBOX	7	144098471	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	272063	144098471	15040192	3244	69858											
CNTNAP2	26047	broad.mit.edu	37	chr7	146997332	146997332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatgaagcatcagcagttcGaactaatagtccccttcaag	8	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:146997332G>A	uc003weu.1	+	9	1964	c.1448G>A	c.(1447-1449)CGA>CAA	p.R483Q		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	483	Extracellular (Potential).|Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCAGCAGTTCGAACTAATAGT	0.423										HNSCC(39;0.1)			A	146997332	G	A	146997332	3	1	104	1	0	0	0	0	1	0	0	0	3647	1058	37	1	1482	1	CNTNAP2	7	146997332	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2898861	146997332	12141331	3245	69859											
CNTNAP2	26047	broad.mit.edu	37	chr7	147092811	147092811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaaatttatacgaagtgGcacaaaggaagccgggaagt	12	5	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:147092811G>A	uc003weu.1	+	10	2125	c.1609G>A	c.(1609-1611)GCA>ACA	p.A537T		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	537	Extracellular (Potential).|Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATACGAAGTGGCACAAAGGAA	0.438										HNSCC(39;0.1)			A	147092811	G	A	147092811	3	1	104	1	0	0	0	0	1	0	0	0	3647	1203	42	2	1647	2	CNTNAP2	7	147092811	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	95479	147092811	12045852	3246	69860											
CNTNAP2	26047	broad.mit.edu	37	chr7	147600755	147600755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaatgtgcctgcggcatcGaacgcaactgcacagatccc	10	13	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:147600755G>A	uc003weu.1	+	14	2713	c.2197G>A	c.(2197-2199)GAA>AAA	p.E733K		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	733	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGCGGCATCGAACGCAACTG	0.572										HNSCC(39;0.1)			A	147600755	G	A	147600755	3	1	104	1	0	0	0	0	1	0	0	0	3647	1059	37	1	2251	1	CNTNAP2	7	147600755	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	507944	147600755	11537908	3247	69861											
CNTNAP2	26047	broad.mit.edu	37	chr7	147844725	147844725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccagcctacaggtggaCcggctaccgcagcagatccg	13	15	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:147844725C>T	uc003weu.1	+	17	3213	c.2697C>T	c.(2695-2697)GAC>GAT	p.D899D		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	899	Laminin G-like 3.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TACAGGTGGACCGGCTACCGC	0.562										HNSCC(39;0.1)			T	147844725	C	T	147844725	2	4	104	1	0	0	0	0	0	0	0	1	3647	506	18	4		4	CNTNAP2	7	147844725	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	243970	147844725	11293938	3248	69862											
EZH2	2146	broad.mit.edu	37	chr7	148504761	148504761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggatttccatttctctttCgatgccgacatacttcaggg	9	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:148504761C>T	uc003wfd.1	-	20	2384	c.2218G>A	c.(2218-2220)GAA>AAA	p.E740K	EZH2_uc011kug.1_Missense_Mutation_p.E689K|EZH2_uc003wfb.1_Missense_Mutation_p.E745K|EZH2_uc003wfc.1_Missense_Mutation_p.E701K|EZH2_uc011kuh.1_Missense_Mutation_p.E731K	NM_004456	NP_004447	Q15910	EZH2_HUMAN	enhancer of zeste 2 isoform a	740					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATTTCTCTTTCGATGCCGACA	0.507			Mis		DLBCL								T	148504761	C	T	148504761	3	4	104	1	0	0	0	0	1	0	0	0	5334	893	31	1	26	1	EZH2	7	148504761	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	660036	148504761	10633902	3249	69863											
ZNF786	136051	broad.mit.edu	37	chr7	148768115	148768115	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccccgctgtgcacgcgcaaGtgctccgtgagcttggattg	13	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:148768115G>T	uc003wfh.2	-	4	1886	c.1749C>A	c.(1747-1749)CAC>CAA	p.H583Q	ZNF786_uc011kuk.1_Missense_Mutation_p.H546Q|ZNF786_uc003wfi.2_Missense_Mutation_p.H497Q	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	583	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCACGCGCAAGTGCTCCGTGA	0.642													T	148768115	G	T	148768115	3	4	104	1	0	0	0	0	1	0	0	0	18155	1020	36	5	603	5	ZNF786	7	148768115	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	263354	148768115	10370548	3250	69864											
ZNF425	155054	broad.mit.edu	37	chr7	148800887	148800887	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcgggacactggaagggCctctctccactgtgcttata	10	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:148800887C>T	uc003wfj.2	-	4	2149	c.2076G>A	c.(2074-2076)AGG>AGA	p.R692R		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	692					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACTGGAAGGGCCTCTCTCCAC	0.562													T	148800887	C	T	148800887	2	4	104	1	0	0	0	0	0	0	0	1	17896	738	26	2		2	ZNF425	7	148800887	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	32772	148800887	10337776	3251	69865											
ZNF425	155054	broad.mit.edu	37	chr7	148801117	148801117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgaggcggaaagtcttctCgcattcaggacactggtagg	13	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:148801117C>T	uc003wfj.2	-	4	1919	c.1846G>A	c.(1846-1848)GAG>AAG	p.E616K		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	616	C2H2-type 15.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AAAGTCTTCTCGCATTCAGGA	0.547													T	148801117	C	T	148801117	3	4	104	1	0	0	0	0	1	0	0	0	17896	893	31	1	416	1	ZNF425	7	148801117	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	230	148801117	10337546	3252	69866											
ZNF425	155054	broad.mit.edu	37	chr7	148815333	148815333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagggaatcaagggtctcGtaattggtcttcatctcttg	10	10	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:148815333G>A	uc003wfj.2	-	2	199	c.126C>T	c.(124-126)TAC>TAT	p.Y42Y		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	42	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CAAGGGTCTCGTAATTGGTCT	0.443													A	148815333	G	A	148815333	2	1	104	1	0	0	0	0	0	0	0	1	17896	1140	40	1		1	ZNF425	7	148815333	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	14216	148815333	10323330	3253	69867											
ZNF212	7988	broad.mit.edu	37	chr7	148947428	148947428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacagagcctggaggggcGcacggggacagccgagaaga	18	10	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:148947428G>A	uc003wfp.2	+	2	299	c.203G>A	c.(202-204)CGC>CAC	p.R68H		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CTGGAGGGGCGCACGGGGACA	0.642													A	148947428	G	A	148947428	3	1	104	1	0	0	0	0	1	0	0	0	17765	1087	38	1	209	1	ZNF212	7	148947428	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	132095	148947428	10191235	3254	69868											
ZNF212	7988	broad.mit.edu	37	chr7	148950967	148950967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggacacttcccgcccctacGaatgttctgagtgtgagatc	10	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:148950967G>A	uc003wfp.2	+	5	1045	c.949G>A	c.(949-951)GAA>AAA	p.E317K		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	317	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CCGCCCCTACGAATGTTCTGA	0.567													A	148950967	G	A	148950967	3	1	104	1	0	0	0	0	1	0	0	0	17765	1059	37	1	967	1	ZNF212	7	148950967	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3539	148950967	10187696	3255	69869											
ZNF746	155061	broad.mit.edu	37	chr7	149172249	149172249	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgggttcaggcccactggCggtttacaccggaaattcca	11	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:149172249C>T	uc003wfw.2	-	7	1432	c.1161G>A	c.(1159-1161)CCG>CCA	p.P387P	ZNF746_uc010lpi.2_Silent_p.P388P	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 2	387					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|breast(1)	3	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGCCCACTGGCGGTTTACACC	0.667													T	149172249	C	T	149172249	2	4	104	1	0	0	0	0	0	0	0	1	18126	755	27	1		1	ZNF746	7	149172249	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	221282	149172249	9966414	3256	69870											
SSPO	23145	broad.mit.edu	37	chr7	149498835	149498835	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcattcagccaggaatctActtatgtggctcccttctct	6	12	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:149498835A>G	uc010lpk.2	+	51	7287	c.7287A>G	c.(7285-7287)CTA>CTG	p.L2429L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2429					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGGAATCTACTTATGTGGC	0.597													G	149498835	A	G	149498835	2	3	104	1	0	0	0	0	0	0	0	1	15188	378	14	3		3	SSPO	7	149498835	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	326586	149498835	9639828	3257	69871											
GIMAP8	155038	broad.mit.edu	37	chr7	150174636	150174636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agataacaaagcccttcggcGcatttttaaaaagtgtgggc	10	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:150174636G>A	uc003whj.2	+	5	2096	c.1766G>A	c.(1765-1767)CGC>CAC	p.R589H		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	589						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.R589H(1)		skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GCCCTTCGGCGCATTTTTAAA	0.458													A	150174636	G	A	150174636	3	1	104	1	0	0	0	0	1	0	0	0	6385	1087	38	1	1780	1	GIMAP8	7	150174636	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	675801	150174636	8964027	3258	69872											
AGAP3	116988	broad.mit.edu	37	chr7	150837140	150837140	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccccactccaaccggaagAagcaccggaggaaaaagagc	10	14	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:150837140A>C	uc003wjg.1	+	13	1744	c.1741A>C	c.(1741-1743)AAG>CAG	p.K581Q	AGAP3_uc003wje.1_Intron|AGAP3_uc003wjj.1_Missense_Mutation_p.K80Q|AGAP3_uc003wjk.1_5'UTR	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	545	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3						CAACCGGAAGAAGCACCGGAG	0.562													C	150837140	A	C	150837140	3	2	104	1	0	0	0	0	1	0	0	0	369	247	9	5	1858	5	AGAP3	7	150837140	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	662504	150837140	8301523	3259	69873											
PRKAG2	51422	broad.mit.edu	37	chr7	151265922	151265922	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcaaggagtatacagcatcGaagaggctgtgggagaagtc	14	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:151265922G>A	uc003wkk.2	-	11	1724	c.1113C>T	c.(1111-1113)TTC>TTT	p.F371F	PRKAG2_uc003wki.2_Silent_p.F130F|PRKAG2_uc011kvl.1_Silent_p.F246F|PRKAG2_uc003wkj.2_Silent_p.F327F|PRKAG2_uc003wkl.2_Intron|PRKAG2_uc010lqe.1_RNA	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	AMP-activated protein kinase gamma2 subunit	371	CBS 2.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(1)|kidney(1)	2	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		ATACAGCATCGAAGAGGCTGT	0.403													A	151265922	G	A	151265922	2	1	104	1	0	0	0	0	0	0	0	1	12501	1049	37	1		1	PRKAG2	7	151265922	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	428782	151265922	7872741	3260	69874											
MLL3	58508	broad.mit.edu	37	chr7	151845714	151845714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacctccgtggaccacagaGcgcagttcaagtggacccac	11	14	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:151845714G>A	uc003wla.2	-	52	13517	c.13298C>T	c.(13297-13299)GCT>GTT	p.A4433V	MLL3_uc003wkz.2_Missense_Mutation_p.A3551V|MLL3_uc003wkx.2_Missense_Mutation_p.A591V|MLL3_uc003wky.2_Missense_Mutation_p.A1997V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4433					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.A4433T(1)		large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGACCACAGAGCGCAGTTCAA	0.488			N		medulloblastoma								A	151845714	G	A	151845714	3	1	104	1	0	0	0	0	1	0	0	0	9622	971	34	2	1469	2	MLL3	7	151845714	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	579792	151845714	7292949	3261	69875											
MLL3	58508	broad.mit.edu	37	chr7	151846058	151846058	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctcatctggcttggcctcGacttgggctgcttcaaaagc	11	12	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:151846058G>A	uc003wla.2	-	52	13173	c.12954C>T	c.(12952-12954)GTC>GTT	p.V4318V	MLL3_uc003wkz.2_Silent_p.V3436V|MLL3_uc003wkx.2_Silent_p.V476V|MLL3_uc003wky.2_Silent_p.V1882V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4318					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCTTGGCCTCGACTTGGGCTG	0.552			N		medulloblastoma								A	151846058	G	A	151846058	2	1	104	1	0	0	0	0	0	0	0	1	9622	1045	37	1		1	MLL3	7	151846058	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	344	151846058	7292605	3262	69876											
MLL3	58508	broad.mit.edu	37	chr7	151935840	151935840	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagctgcctgggtttaaaAatttcccgaccttctgaaat	9	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:151935840A>C	uc003wla.2	-	15	2823	c.2604T>G	c.(2602-2604)ATT>ATG	p.I868M	MLL3_uc003wkz.2_Translation_Start_Site	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	868					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGGGTTTAAAAATTTCCCGAC	0.423			N		medulloblastoma								C	151935840	A	C	151935840	3	2	104	1	0	0	0	0	1	0	0	0	9622	10	1	5	12311	5	MLL3	7	151935840	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	89782	151935840	7202823	3263	69877											
XRCC2	7516	broad.mit.edu	37	chr7	152345946	152345946	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgagaggcatgagaaggTtcttctgatgagctcgaggc	15	8	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:152345946T>C	uc003wld.2	-	3	710	c.624A>G	c.(622-624)GAA>GAG	p.E208E		NM_005431	NP_005422	O43543	XRCC2_HUMAN	X-ray repair cross complementing protein 2	208					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			breast(1)|liver(1)	2		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		CATGAGAAGGTTCTTCTGATG	0.443								Homologous_recombination					C	152345946	T	C	152345946	2	2	104	1	0	0	0	0	0	0	0	1	17450	1722	60	3		3	XRCC2	7	152345946	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	410106	152345946	6792717	3264	69878											
DPP6	1804	broad.mit.edu	37	chr7	154681193	154681193	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcatttccagcacacagcaGaactcattacacaactaatt	3	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:154681193G>T	uc003wlk.2	+	25	2533	c.2404G>T	c.(2404-2406)GAA>TAA	p.E802*	DPP6_uc003wli.2_Nonsense_Mutation_p.E738*|DPP6_uc003wlm.2_Nonsense_Mutation_p.E740*|DPP6_uc011kvq.1_Nonsense_Mutation_p.E695*	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	802	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GCACACAGCAGAACTCATTAC	0.383													T	154681193	G	T	154681193	4	4	104	1	0	0	0	0	0	1	0	0	4730	943	33	5	2618	5	DPP6	7	154681193	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2335247	154681193	4457470	3265	69879											
DPP6	1804	broad.mit.edu	37	chr7	154684055	154684055	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttgcagatttacccggaCgaaagccattactttaccag	7	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:154684055C>T	uc003wlk.2	+	26	2592	c.2463C>T	c.(2461-2463)GAC>GAT	p.D821D	DPP6_uc003wli.2_Silent_p.D757D|DPP6_uc003wlm.2_Silent_p.D759D|DPP6_uc011kvq.1_Silent_p.D714D	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	821	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTTACCCGGACGAAAGCCATT	0.512													T	154684055	C	T	154684055	2	4	104	1	0	0	0	0	0	0	0	1	4730	535	19	1		1	DPP6	7	154684055	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2862	154684055	4454608	3266	69880											
RBM33	155435	broad.mit.edu	37	chr7	155473530	155473530	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatagaatatgtggaagaGccagaggaggagcagcttta	13	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:155473530G>A	uc010lqk.1	+	5	863	c.495G>A	c.(493-495)GAG>GAA	p.E165E	RBM33_uc003wme.2_Silent_p.E165E	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	165	Glu-rich.						nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		ATGTGGAAGAGCCAGAGGAGG	0.418													A	155473530	G	A	155473530	2	1	104	1	0	0	0	0	0	0	0	1	13130	962	34	2		2	RBM33	7	155473530	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	789475	155473530	3665133	3267	69881											
RBM33	155435	broad.mit.edu	37	chr7	155530977	155530977	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcctccaggtccggtgggGattctgcactttagccagcc	12	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:155530977G>A	uc010lqk.1	+	11	1985	c.1617G>A	c.(1615-1617)GGG>GGA	p.G539G	RBM33_uc011kvv.1_Silent_p.G348G	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	539	Pro-rich.						nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GTCCGGTGGGGATTCTGCACT	0.612													A	155530977	G	A	155530977	2	1	104	1	0	0	0	0	0	0	0	1	13130	1161	41	4		4	RBM33	7	155530977	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	57447	155530977	3607686	3268	69882											
RBM33	155435	broad.mit.edu	37	chr7	155538228	155538228	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaggactgtcacgcacaggAcaaacagtggtggtggagac	14	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:155538228A>G	uc010lqk.1	+	14	3279	c.2911A>G	c.(2911-2913)ACA>GCA	p.T971A	RBM33_uc011kvv.1_Missense_Mutation_p.T780A|RBM33_uc003wmg.2_5'Flank	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	971							nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CACGCACAGGACAAACAGTGG	0.582													G	155538228	A	G	155538228	3	3	104	1	0	0	0	0	1	0	0	0	13130	275	10	3	2965	3	RBM33	7	155538228	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	7251	155538228	3600435	3269	69883											
SHH	6469	broad.mit.edu	37	chr7	155599139	155599139	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgcggccctcgtagtgcagaGactcctctgagtggtggcca	14	13	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:155599139G>A	uc003wmk.1	-	2	564	c.413C>T	c.(412-414)TCT>TTT	p.S138F	SHH_uc003wmh.1_RNA|SHH_uc003wmi.1_Missense_Mutation_p.S51F|SHH_uc003wmj.1_Missense_Mutation_p.S51F	NM_000193	NP_000184	Q15465	SHH_HUMAN	sonic hedgehog preproprotein	138					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|lung(1)	4	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTAGTGCAGAGACTCCTCTGA	0.637													A	155599139	G	A	155599139	3	1	104	1	0	0	0	0	1	0	0	0	14279	942	33	4	983	4	SHH	7	155599139	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	60911	155599139	3539524	3270	69884											
SHH	6469	broad.mit.edu	37	chr7	155604547	155604547	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctgtccgctccggtgttTtcttcatccttaaatatgat	7	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:155604547T>G	uc003wmk.1	-	1	421	c.270A>C	c.(268-270)GAA>GAC	p.E90D	SHH_uc003wmh.1_5'Flank|SHH_uc003wmi.1_5'Flank|SHH_uc003wmj.1_5'Flank	NM_000193	NP_000184	Q15465	SHH_HUMAN	sonic hedgehog preproprotein	90					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|lung(1)	4	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCGGTGTTTTCTTCATCCT	0.542													G	155604547	T	G	155604547	3	3	104	1	0	0	0	0	1	0	0	0	14279	1838	64	5	1130	5	SHH	7	155604547	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	5408	155604547	3534116	3271	69885											
RNF32	140545	broad.mit.edu	37	chr7	156437272	156437272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttacatgatcttcaacttcGaaatctttcagttgcagatc	5	9	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:156437272G>A	uc003wmo.2	+	3	277	c.95G>A	c.(94-96)CGA>CAA	p.R32Q	RNF32_uc010lql.1_RNA|RNF32_uc010lqm.2_Missense_Mutation_p.R32Q|RNF32_uc003wmp.2_Missense_Mutation_p.R32Q|RNF32_uc003wmq.2_Missense_Mutation_p.R32Q|RNF32_uc003wmr.2_Missense_Mutation_p.R32Q|RNF32_uc003wms.2_Missense_Mutation_p.R32Q|RNF32_uc003wmu.2_RNA|RNF32_uc003wmt.2_Missense_Mutation_p.R32Q	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	ring finger protein 32	32						aggresome|endosome	protein binding|zinc ion binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTTCAACTTCGAAATCTTTCA	0.328													A	156437272	G	A	156437272	3	1	104	1	0	0	0	0	1	0	0	0	13488	1058	37	1	101	1	RNF32	7	156437272	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	832725	156437272	2701391	3272	69886											
NOM1	64434	broad.mit.edu	37	chr7	156752741	156752741	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaaagatattgaactgaTcttgttaatgctgaaaaacg	8	5	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:156752741T>C	uc003wmy.2	+	4	1520	c.1505T>C	c.(1504-1506)ATC>ACC	p.I502T	NOM1_uc010lqp.1_5'Flank	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	502	MIF4G.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ATTGAACTGATCTTGTTAATG	0.398													C	156752741	T	C	156752741	3	2	104	1	0	0	0	0	1	0	0	0	10530	1435	50	3	1519	3	NOM1	7	156752741	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	315469	156752741	2385922	3273	69887											
DNAJB6	10049	broad.mit.edu	37	chr7	157177652	157177652	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcatgggcaacttcaaatcGatatcaacttcaactaaaat	6	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:157177652G>A	uc003wnk.2	+	7	724	c.570G>A	c.(568-570)TCG>TCA	p.S190S	DNAJB6_uc003wnj.2_Silent_p.S190S|DNAJB6_uc003wnl.2_Silent_p.S177S|DNAJB6_uc011kvy.1_Silent_p.S141S|DNAJB6_uc011kvz.1_Intron|DNAJB6_uc010lqt.2_Silent_p.S190S	NM_058246	NP_490647	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	190	Interaction with KRT18.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding	p.S190S(1)		ovary(2)	2	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ACTTCAAATCGATATCAACTT	0.403													A	157177652	G	A	157177652	2	1	104	1	0	0	0	0	0	0	0	1	4624	1045	37	1		1	DNAJB6	7	157177652	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	424911	157177652	1961011	3274	69888											
PTPRN2	5799	broad.mit.edu	37	chr7	157341698	157341698	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctccagggtcgctgcgataTcaatctctttagcacctgca	9	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:157341698T>C	uc003wno.2	-	22	3039	c.2918A>G	c.(2917-2919)GAT>GGT	p.D973G	PTPRN2_uc003wnp.2_Missense_Mutation_p.D956G|PTPRN2_uc003wnq.2_Missense_Mutation_p.D944G|PTPRN2_uc003wnr.2_Missense_Mutation_p.D935G|PTPRN2_uc011kwa.1_Missense_Mutation_p.D996G|PTPRN2_uc003wnn.2_RNA	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	973	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CGCTGCGATATCAATCTCTTT	0.532													C	157341698	T	C	157341698	3	2	104	1	0	0	0	0	1	0	0	0	12808	1435	50	3	137	3	PTPRN2	7	157341698	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	164046	157341698	1796965	3275	69889											
PTPRN2	5799	broad.mit.edu	37	chr7	157903532	157903532	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtacttactccacgtcagcGaacgcactgctgggcacctg	10	15	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:157903532G>A	uc003wno.2	-	10	1753	c.1632C>T	c.(1630-1632)TTC>TTT	p.F544F	PTPRN2_uc003wnp.2_Silent_p.F527F|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Silent_p.F506F|PTPRN2_uc011kwa.1_Silent_p.F567F	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	544	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCACGTCAGCGAACGCACTGC	0.667													A	157903532	G	A	157903532	2	1	104	1	0	0	0	0	0	0	0	1	12808	1049	37	1		1	PTPRN2	7	157903532	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	561834	157903532	1235131	3276	69890											
NCAPG2	54892	broad.mit.edu	37	chr7	158437017	158437017	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccaaagtaatttccatgAatgtctttagttttctgtga	6	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:158437017A>C	uc003wnv.1	-	27	3489	c.3344T>G	c.(3343-3345)TTC>TGC	p.F1115C	NCAPG2_uc010lqu.1_Missense_Mutation_p.F860C|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.F1115C|NCAPG2_uc011kwe.1_Missense_Mutation_p.F1115C|NCAPG2_uc011kwc.1_Missense_Mutation_p.F569C|NCAPG2_uc011kwd.1_Missense_Mutation_p.F558C	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	1115					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AATTTCCATGAATGTCTTTAG	0.353													C	158437017	A	C	158437017	3	2	104	1	0	0	0	0	1	0	0	0	10208	246	9	5	95	5	NCAPG2	7	158437017	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	533485	158437017	701646	3277	69891											
NCAPG2	54892	broad.mit.edu	37	chr7	158456966	158456966	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacaggcatttaagcaatgAcgaataacgtgaatcagctt	8	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:158456966A>G	uc003wnv.1	-	15	1870	c.1725T>C	c.(1723-1725)CGT>CGC	p.R575R	NCAPG2_uc010lqu.1_Silent_p.R367R|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Silent_p.R575R|NCAPG2_uc011kwe.1_Silent_p.R575R|NCAPG2_uc011kwc.1_Silent_p.R76R|NCAPG2_uc011kwd.1_Silent_p.R76R	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	575					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TTAAGCAATGACGAATAACGT	0.398													G	158456966	A	G	158456966	2	3	104	1	0	0	0	0	0	0	0	1	10208	262	10	3		3	NCAPG2	7	158456966	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	19949	158456966	681697	3278	69892											
WDR60	55112	broad.mit.edu	37	chr7	158715184	158715184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcaaatacgtcctctgtGtgtgggatatttggcagcct	11	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr7:158715184G>A	uc003woe.3	+	16	2196	c.2038G>A	c.(2038-2040)GTG>ATG	p.V680M	WDR60_uc010lqv.2_Intron|WDR60_uc010lqw.2_Missense_Mutation_p.V312M	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	680										ovary(2)|breast(1)|central_nervous_system(1)	4	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CGTCCTCTGTGTGTGGGATAT	0.547													A	158715184	G	A	158715184	3	1	104	1	0	0	0	0	1	0	0	0	17308	1377	48	4	2100	4	WDR60	7	158715184	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	258218	158715184	423479	3279	69893											
ARHGEF10	9639	broad.mit.edu	37	chr8	1842726	1842726	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtggaaatgataggcgatgtCttcgtggcttcggtaattaa	13	5	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:1842726C>A	uc003wpr.2	+	13	1606	c.1428C>A	c.(1426-1428)GTC>GTA	p.V476V	ARHGEF10_uc003wpq.1_Silent_p.V501V|ARHGEF10_uc003wps.2_Silent_p.V438V|ARHGEF10_uc003wpt.2_Silent_p.V352V|ARHGEF10_uc003wpv.2_Silent_p.V209V|ARHGEF10_uc010lre.2_Silent_p.V156V	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	501	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TAGGCGATGTCTTCGTGGCTT	0.547													A	1842726	C	A	1842726	2	1	104	1	0	0	0	0	0	0	0	1	894	900	32	5		5	ARHGEF10	8	1842726	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08		1842726	144521296	3280	69894											
ARHGEF10	9639	broad.mit.edu	37	chr8	1904965	1904965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtcctgtcaaattcatcGtcctggccacggctctgcac	8	15	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:1904965G>A	uc003wpr.2	+	29	3749	c.3571G>A	c.(3571-3573)GTC>ATC	p.V1191I	ARHGEF10_uc003wps.2_Missense_Mutation_p.V1153I|ARHGEF10_uc010lre.2_Missense_Mutation_p.V842I	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	1216					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CAAATTCATCGTCCTGGCCAC	0.517													A	1904965	G	A	1904965	3	1	104	1	0	0	0	0	1	0	0	0	894	1145	40	1	3681	1	ARHGEF10	8	1904965	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	62239	1904965	144459057	3281	69895											
MYOM2	9172	broad.mit.edu	37	chr8	2037977	2037977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggcctgagcgaaccttcGgagataacgtcccccattca	9	14	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:2037977G>A	uc003wpx.3	+	15	1929	c.1791G>A	c.(1789-1791)TCG>TCA	p.S597S	MYOM2_uc011kwi.1_Silent_p.S22S	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	597	Fibronectin type-III 2.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCGAACCTTCGGAGATAACGT	0.562													A	2037977	G	A	2037977	2	1	104	1	0	0	0	0	0	0	0	1	10092	1103	39	1		1	MYOM2	8	2037977	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	133012	2037977	144326045	3282	69896											
CSMD1	64478	broad.mit.edu	37	chr8	2824263	2824263	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccagggttgccacaggAcacggctgttaggcaaacaa	13	10	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:2824263A>G	uc011kwk.1	-	58	9322	c.8932T>C	c.(8932-8934)TCC>CCC	p.S2978P	CSMD1_uc011kwj.1_Missense_Mutation_p.S2307P|CSMD1_uc010lrg.2_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2978	Extracellular (Potential).|Sushi 23.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTGCCACAGGACACGGCTGTT	0.502													G	2824263	A	G	2824263	3	3	104	1	0	0	0	0	1	0	0	0	3944	275	10	3	1817	3	CSMD1	8	2824263	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	786286	2824263	143539759	3283	69897											
CSMD1	64478	broad.mit.edu	37	chr8	3205548	3205548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcaaacagctggaagcttCgtgttctaaggtggatgccc	11	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:3205548C>T	uc011kwk.1	-	22	3833	c.3443G>A	c.(3442-3444)CGA>CAA	p.R1148Q	CSMD1_uc011kwj.1_Missense_Mutation_p.R540Q|CSMD1_uc003wqe.2_Missense_Mutation_p.R304Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1148	Extracellular (Potential).|CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGGAAGCTTCGTGTTCTAAG	0.353													T	3205548	C	T	3205548	3	4	104	1	0	0	0	0	1	0	0	0	3944	884	31	1	7450	1	CSMD1	8	3205548	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	381285	3205548	143158474	3284	69898											
SGK223	157285	broad.mit.edu	37	chr8	8235348	8235348	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtaaggaaatgagggtttttCtttgtgcacagccttctcct	10	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:8235348C>A	uc003wsh.3	-	2	571	c.571G>T	c.(571-573)GAA>TAA	p.E191*		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	191							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GAGGGTTTTTCTTTGTGCACA	0.597													A	8235348	C	A	8235348	4	1	104	1	0	0	0	0	0	1	0	0	14210	922	32	5	3653	5	SGK223	8	8235348	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5029800	8235348	138128674	3285	69899											
PPP1R3B	79660	broad.mit.edu	37	chr8	8998978	8998978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtctgcgaaggacacccGctttttcaccttcttctcct	7	14	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:8998978G>A	uc003wsn.3	-	2	349	c.184C>T	c.(184-186)CGG>TGG	p.R62W	PPP1R3B_uc003wso.3_Missense_Mutation_p.R61W	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	62					glycogen metabolic process					ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		AAGGACACCCGCTTTTTCACC	0.537													A	8998978	G	A	8998978	3	1	104	1	0	0	0	0	1	0	0	0	12372	1086	38	1	677	1	PPP1R3B	8	8998978	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	763630	8998978	137365044	3286	69900											
TNKS	8658	broad.mit.edu	37	chr8	9562212	9562212	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcgggctacaacagagttCgaatagttcagcttcttctt	9	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:9562212C>T	uc003wss.2	+	6	1152	c.1147C>T	c.(1147-1149)CGA>TGA	p.R383*	TNKS_uc011kwv.1_Nonsense_Mutation_p.R383*|TNKS_uc011kww.1_Nonsense_Mutation_p.R146*	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	383	ANK 4.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		CAACAGAGTTCGAATAGTTCA	0.393													T	9562212	C	T	9562212	4	4	104	1	0	0	0	0	0	1	0	0	16316	876	31	1	1169	1	TNKS	8	9562212	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	563234	9562212	136801810	3287	69901											
PRSS55	203074	broad.mit.edu	37	chr8	10396280	10396280	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcccctgtcccatgtgTtgttcagagctattttgtac	8	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:10396280T>C	uc003wta.2	+	5	1051	c.1036T>C	c.(1036-1038)TTG>CTG	p.L346L	uc010lru.2_Intron|PRSS55_uc003wtb.2_Intron	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	hypothetical protein LOC203074 precursor	346	Helical; (Potential).				proteolysis	integral to membrane	serine-type endopeptidase activity			ovary(1)	1						GTCCCATGTGTTGTTCAGAGC	0.537													C	10396280	T	C	10396280	2	2	104	1	0	0	0	0	0	0	0	1	12634	1722	60	3		3	PRSS55	8	10396280	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	834068	10396280	135967742	3288	69902											
RP1L1	94137	broad.mit.edu	37	chr8	10466733	10466733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaggagaggggccccagGcccagggtccgctcagagaa	17	11	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:10466733G>A	uc003wtc.2	-	4	5104	c.4875C>T	c.(4873-4875)GGC>GGT	p.G1625G		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1625					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GGGGCCCCAGGCCCAGGGTCC	0.711													A	10466733	G	A	10466733	2	1	104	1	0	0	0	0	0	0	0	1	13533	1190	42	2		2	RP1L1	8	10466733	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	70453	10466733	135897289	3289	69903											
RP1L1	94137	broad.mit.edu	37	chr8	10469605	10469605	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggtgtccttgcggtagtgaGaatgcctgggatggcctctc	16	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:10469605G>A	uc003wtc.2	-	4	2232	c.2003C>T	c.(2002-2004)TCT>TTT	p.S668F		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	668					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GCGGTAGTGAGAATGCCTGGG	0.652													A	10469605	G	A	10469605	3	1	104	1	0	0	0	0	1	0	0	0	13533	942	33	4	5203	4	RP1L1	8	10469605	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2872	10469605	135894417	3290	69904											
BLK	640	broad.mit.edu	37	chr8	11400775	11400775	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagccggacaaggaaaagccGatcaaagagaaggacaaggg	14	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:11400775G>A	uc003wty.2	+	2	623	c.42G>A	c.(40-42)CCG>CCA	p.P14P	BLK_uc003wtz.2_Intron	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	14					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|stomach(1)|ovary(1)	3			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		AGGAAAAGCCGATCAAAGAGA	0.607													A	11400775	G	A	11400775	2	1	104	1	0	0	0	0	0	0	0	1	1444	1045	37	1		1	BLK	8	11400775	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	931170	11400775	134963247	3291	69905											
USP17L2	377630	broad.mit.edu	37	chr8	11994797	11994797	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctgatctgtccgggtcgtCgaagagaggtttagcaggga	15	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:11994797C>T	uc003wvc.1	-	1	1473	c.1473G>A	c.(1471-1473)TCG>TCA	p.S491S	FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	deubiquitinating enzyme 3	491					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)	3						TCCGGGTCGTCGAAGAGAGGT	0.517													T	11994797	C	T	11994797	2	4	104	1	0	0	0	0	0	0	0	1	17045	871	31	1		1	USP17L2	8	11994797	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	594022	11994797	134369225	3292	69906											
DLC1	10395	broad.mit.edu	37	chr8	12947955	12947955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgttcggtataggaattacGacatcggctcatttcctcgg	10	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:12947955G>A	uc003wwm.2	-	15	4324	c.3880C>T	c.(3880-3882)CGT>TGT	p.R1294C	DLC1_uc003wwk.1_Missense_Mutation_p.R857C|DLC1_uc003wwl.1_Missense_Mutation_p.R891C|DLC1_uc011kxx.1_Missense_Mutation_p.R783C	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1294					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.R1294C(1)		ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TAGGAATTACGACATCGGCTC	0.512													A	12947955	G	A	12947955	3	1	104	1	0	0	0	0	1	0	0	0	4550	1058	37	1	722	1	DLC1	8	12947955	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	953158	12947955	133416067	3293	69907											
TUSC3	7991	broad.mit.edu	37	chr8	15588214	15588214	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gccaggctcagtttgtggcaGaatcacacattattctggta	10	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:15588214G>T	uc003wwt.2	+	7	1048	c.838G>T	c.(838-840)GAA>TAA	p.E280*	TUSC3_uc003wws.2_Nonsense_Mutation_p.E280*|TUSC3_uc003wwu.2_Nonsense_Mutation_p.E280*|TUSC3_uc003wwv.2_Nonsense_Mutation_p.E280*|TUSC3_uc003www.2_Nonsense_Mutation_p.E280*|TUSC3_uc003wwx.2_Intron|TUSC3_uc003wwy.2_Intron	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	280	Helical; (Potential).				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		GTTTGTGGCAGAATCACACAT	0.363													T	15588214	G	T	15588214	4	4	104	1	0	0	0	0	0	1	0	0	16775	943	33	5	864	5	TUSC3	8	15588214	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2640259	15588214	130775808	3294	69908											
MSR1	4481	broad.mit.edu	37	chr8	16026226	16026226	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtctaaaatatgctggattCtcttctccatgttgctcatg	7	9	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:16026226C>A	uc003wwz.2	-	4	569	c.371G>T	c.(370-372)AGA>ATA	p.R124I	MSR1_uc010lsu.2_Missense_Mutation_p.R142I|MSR1_uc003wxa.2_Missense_Mutation_p.R124I|MSR1_uc003wxb.2_Missense_Mutation_p.R124I|MSR1_uc011kxz.1_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	124	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)		ATGCTGGATTCTCTTCTCCAT	0.378													A	16026226	C	A	16026226	3	1	104	1	0	0	0	0	1	0	0	0	9886	913	32	5	1060	5	MSR1	8	16026226	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	438012	16026226	130337796	3295	69909											
MSR1	4481	broad.mit.edu	37	chr8	16026290	16026290	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctcatttcctcttcgctgtCatttccttttcccgtgagac	5	14	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:16026290C>A	uc003wwz.2	-	4	505	c.307G>T	c.(307-309)GAC>TAC	p.D103Y	MSR1_uc010lsu.2_Missense_Mutation_p.D121Y|MSR1_uc003wxa.2_Missense_Mutation_p.D103Y|MSR1_uc003wxb.2_Missense_Mutation_p.D103Y|MSR1_uc011kxz.1_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	103	Spacer (Probable).|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)		TCTTCGCTGTCATTTCCTTTT	0.383													A	16026290	C	A	16026290	3	1	104	1	0	0	0	0	1	0	0	0	9886	826	29	5	1124	5	MSR1	8	16026290	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	64	16026290	130337732	3296	69910											
CNOT7	29883	broad.mit.edu	37	chr8	17094768	17094768	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacagaggaccactccagaAgtcataagaagttctgcaaa	8	10	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:17094768A>C	uc003wxf.1	-	4	594	c.426T>G	c.(424-426)ACT>ACG	p.T142T	CNOT7_uc003wxg.1_Silent_p.T142T|CNOT7_uc003wxh.1_Silent_p.T142T	NM_013354	NP_037486	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	142					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)	1				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		CCACTCCAGAAGTCATAAGAA	0.403													C	17094768	A	C	17094768	2	2	104	1	0	0	0	0	0	0	0	1	3624	59	3	5		5	CNOT7	8	17094768	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1068478	17094768	129269254	3297	69911											
VPS37A	137492	broad.mit.edu	37	chr8	17142068	17142068	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gataatattgcagaagacttCttggagggaaagatggaaat	12	3	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:17142068C>A	uc003wxj.2	+	10	1409	c.1056C>A	c.(1054-1056)TTC>TTA	p.F352L	VPS37A_uc003wxk.2_Missense_Mutation_p.F327L|VPS37A_uc003wxl.2_Missense_Mutation_p.F123L	NM_152415	NP_689628	Q8NEZ2	VP37A_HUMAN	hepatocellular carcinoma related protein 1	352	VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus					0				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		CAGAAGACTTCTTGGAGGGAA	0.383													A	17142068	C	A	17142068	3	1	104	1	0	0	0	0	1	0	0	0	17202	912	32	5	1094	5	VPS37A	8	17142068	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	47300	17142068	129221954	3298	69912											
MTUS1	57509	broad.mit.edu	37	chr8	17613066	17613066	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taatgaaatcactagaagacTtttcatgaccaaatacttca	4	8	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:17613066T>G	uc003wxv.2	-	2	725	c.251A>C	c.(250-252)AAG>ACG	p.K84T	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.K84T|MTUS1_uc010lsz.2_Missense_Mutation_p.K84T	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	84						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		ACTAGAAGACTTTTCATGACC	0.383													G	17613066	T	G	17613066	3	3	104	1	0	0	0	0	1	0	0	0	9965	1609	56	5	3936	5	MTUS1	8	17613066	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	470998	17613066	128750956	3299	69913											
PSD3	23362	broad.mit.edu	37	chr8	18656857	18656857	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcacaggtaaggcaatggActccatctaaagaaagatac	9	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:18656857A>G	uc003wza.2	-	8	2133	c.2030T>C	c.(2029-2031)GTC>GCC	p.V677A	PSD3_uc003wyy.2_Missense_Mutation_p.V143A|PSD3_uc003wyz.2_5'UTR	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	677	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AAGGCAATGGACTCCATCTAA	0.383													G	18656857	A	G	18656857	3	3	104	1	0	0	0	0	1	0	0	0	12648	275	10	3	1149	3	PSD3	8	18656857	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1043791	18656857	127707165	3300	69914											
SH2D4A	63898	broad.mit.edu	37	chr8	19218776	19218776	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaatagaagaagagagaacGaagcagatttgtaagagctg	12	4	0	6			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:19218776G>A	uc003wzb.2	+	6	993	c.657G>A	c.(655-657)ACG>ACA	p.T219T	SH2D4A_uc011kym.1_Silent_p.T174T|SH2D4A_uc003wzc.2_Silent_p.T219T	NM_022071	NP_071354	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	219						cytoplasm|nucleus	protein binding				0				Colorectal(111;0.0732)		AAGAGAGAACGAAGCAGATTT	0.348													A	19218776	G	A	19218776	2	1	104	1	0	0	0	0	0	0	0	1	14235	1045	37	1		1	SH2D4A	8	19218776	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	561919	19218776	127145246	3301	69915											
LPL	4023	broad.mit.edu	37	chr8	19811702	19811702	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctcctgatgatgcagatTttgtagacgtcttacacaca	7	9	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:19811702T>G	uc003wzk.3	+	5	983	c.613T>G	c.(613-615)TTT>GTT	p.F205V		NM_000237	NP_000228	P06858	LIPL_HUMAN	lipoprotein lipase precursor	205					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	TGATGCAGATTTTGTAGACGT	0.483													G	19811702	T	G	19811702	3	3	104	1	0	0	0	0	1	0	0	0	8921	1841	64	5	631	5	LPL	8	19811702	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	592926	19811702	126552320	3302	69916											
LPL	4023	broad.mit.edu	37	chr8	19813404	19813404	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgctccattcatctcttcatCgactctctgttgaatgaaga	6	12	4	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:19813404C>T	uc003wzk.3	+	6	1198	c.828C>T	c.(826-828)ATC>ATT	p.I276I		NM_000237	NP_000228	P06858	LIPL_HUMAN	lipoprotein lipase precursor	276					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	ATCTCTTCATCGACTCTCTGT	0.463													T	19813404	C	T	19813404	2	4	104	1	0	0	0	0	0	0	0	1	8921	874	31	1		1	LPL	8	19813404	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1702	19813404	126550618	3303	69917											
XPO7	23039	broad.mit.edu	37	chr8	21833868	21833868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtggtaatttttacaggCttcaggaaagaatctaaact	8	5	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:21833868C>T	uc003xaa.3	+	7	701	c.599C>T	c.(598-600)GCT>GTT	p.A200V	XPO7_uc010lti.2_Missense_Mutation_p.A209V|XPO7_uc010ltj.1_RNA|XPO7_uc010ltk.2_Missense_Mutation_p.A201V	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	200					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TTTTTACAGGCTTCAGGAAAG	0.438													T	21833868	C	T	21833868	3	4	104	1	0	0	0	0	1	0	0	0	17446	811	28	2	677	2	XPO7	8	21833868	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2020464	21833868	124530154	3304	69918											
XPO7	23039	broad.mit.edu	37	chr8	21848324	21848324	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttctttttttcaatagagCgagcacttttcatttttggg	7	6	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:21848324C>T	uc003xaa.3	+	18	2037	c.1935C>T	c.(1933-1935)AGC>AGT	p.S645S	XPO7_uc010lti.2_Silent_p.S654S|XPO7_uc010ltk.2_Silent_p.S646S	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	645					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TTCAATAGAGCGAGCACTTTT	0.428													T	21848324	C	T	21848324	2	4	104	1	0	0	0	0	0	0	0	1	17446	767	27	1		1	XPO7	8	21848324	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	14456	21848324	124515698	3305	69919											
LGI3	203190	broad.mit.edu	37	chr8	22006386	22006386	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcctggtgaagcgcgtggTgttgggatcccagtggtaaa	16	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:22006386T>C	uc003xav.2	-	8	1223	c.934A>G	c.(934-936)ACC>GCC	p.T312A	LGI3_uc010ltu.2_Missense_Mutation_p.T288A	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	312					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		AAGCGCGTGGTGTTGGGATCC	0.597													C	22006386	T	C	22006386	3	2	104	1	0	0	0	0	1	0	0	0	8753	1696	59	3	716	3	LGI3	8	22006386	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	158062	22006386	124357636	3306	69920											
PIWIL2	55124	broad.mit.edu	37	chr8	22172631	22172631	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaactgtaaattgggtggTgagctctggggagtggatat	15	3	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:22172631T>C	uc003xbn.2	+	18	2329	c.2181T>C	c.(2179-2181)GGT>GGC	p.G727G	PIWIL2_uc011kzf.1_Silent_p.G727G|PIWIL2_uc010ltv.2_Silent_p.G727G	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2	727	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			skin(1)	1				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AATTGGGTGGTGAGCTCTGGG	0.463													C	22172631	T	C	22172631	2	2	104	1	0	0	0	0	0	0	0	1	11958	1683	59	3		3	PIWIL2	8	22172631	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	166245	22172631	124191391	3307	69921											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24254940	24254940	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgggaaacaaggcccaattCgaatctctagatcactcaaa	7	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:24254940C>T	uc003xdz.2	+	6	818	c.598C>T	c.(598-600)CGA>TGA	p.R200*	ADAMDEC1_uc010lub.2_Nonsense_Mutation_p.R121*|ADAMDEC1_uc011lab.1_Nonsense_Mutation_p.R121*	NM_014479	NP_055294	O15204	ADEC1_HUMAN	ADAM-like, decysin 1 isoform 1	200					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)	2		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGGCCCAATTCGAATCTCTAG	0.433													T	24254940	C	T	24254940	4	4	104	1	0	0	0	0	0	1	0	0	254	876	31	1	620	1	ADAMDEC1	8	24254940	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2082309	24254940	122109082	3308	69922											
DOCK5	80005	broad.mit.edu	37	chr8	25227129	25227129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagaagggggcagaggagacGaacaatacaaggttcttctg	14	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:25227129G>A	uc003xeg.2	+	34	3633	c.3496G>A	c.(3496-3498)GAA>AAA	p.E1166K	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.E880K|PPP2R2A_uc003xek.2_5'Flank|DOCK5_uc003xei.2_Missense_Mutation_p.E736K|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1166	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAGAGGAGACGAACAATACAA	0.428													A	25227129	G	A	25227129	3	1	104	1	0	0	0	0	1	0	0	0	4690	1059	37	1	3630	1	DOCK5	8	25227129	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	972189	25227129	121136893	3309	69923											
KCTD9	54793	broad.mit.edu	37	chr8	25296817	25296817	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataaattaatgccatcattTacaatgagctgtccatgacg	6	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:25296817T>C	uc003xeo.2	-	6	635	c.477A>G	c.(475-477)GTA>GTG	p.V159V	PPP2R2A_uc003xek.2_Intron	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	potassium channel tetramerisation domain	159	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		TGCCATCATTTACAATGAGCT	0.333													C	25296817	T	C	25296817	2	2	104	1	0	0	0	0	0	0	0	1	8116	1741	61	3		3	KCTD9	8	25296817	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	69688	25296817	121067205	3310	69924											
PTK2B	2185	broad.mit.edu	37	chr8	27300491	27300491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacagccttccaggaaccCccacccaaggtaagccaagc	7	19	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:27300491C>T	uc003xfn.1	+	27	2947	c.2139C>T	c.(2137-2139)CCC>CCT	p.P713P	PTK2B_uc003xfo.1_Silent_p.P713P|PTK2B_uc003xfp.1_Silent_p.P713P|PTK2B_uc003xfq.1_Silent_p.P713P|PTK2B_uc003xfr.1_Silent_p.P459P	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	713	Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TCCAGGAACCCCCACCCAAGG	0.542													T	27300491	C	T	27300491	2	4	104	1	0	0	0	0	0	0	0	1	12763	610	22	4		4	PTK2B	8	27300491	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2003674	27300491	119063531	3311	69925											
TEX15	56154	broad.mit.edu	37	chr8	30699651	30699651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgcactctgatactggggGcaacatcgtagaaatactaa	9	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:30699651G>A	uc003xil.2	-	1	6883	c.6883C>T	c.(6883-6885)CCC>TCC	p.P2295S		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2295										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GATACTGGGGGCAACATCGTA	0.348													A	30699651	G	A	30699651	3	1	104	1	0	0	0	0	1	0	0	0	15776	1203	42	2	1502	2	TEX15	8	30699651	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3399160	30699651	115664371	3312	69926											
TEX15	56154	broad.mit.edu	37	chr8	30701056	30701056	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtactttttcttaagatTtccaggtcttctaaactatc	4	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:30701056T>G	uc003xil.2	-	1	5478	c.5478A>C	c.(5476-5478)GAA>GAC	p.E1826D		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1826										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTCTTAAGATTTCCAGGTCTT	0.373													G	30701056	T	G	30701056	3	3	104	1	0	0	0	0	1	0	0	0	15776	1838	64	5	2907	5	TEX15	8	30701056	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1405	30701056	115662966	3313	69927											
TEX15	56154	broad.mit.edu	37	chr8	30703661	30703661	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taattcgtccttgggataatGaagagaaacactcagatgag	10	6	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:30703661G>T	uc003xil.2	-	1	2873	c.2873C>A	c.(2872-2874)TCA>TAA	p.S958*		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	958										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTGGGATAATGAAGAGAAACA	0.358													T	30703661	G	T	30703661	4	4	104	1	0	0	0	0	0	1	0	0	15776	1294	45	5	5512	5	TEX15	8	30703661	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2605	30703661	115660361	3314	69928											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37734802	37734802	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaggtcttgatctttgatttCtttttcttgtctttaaccac	5	8	5	2	rs143926211		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:37734802C>A	uc003xkm.1	-	2	683	c.639G>T	c.(637-639)AAG>AAT	p.K213N	RAB11FIP1_uc010lvz.1_Missense_Mutation_p.K61N|RAB11FIP1_uc003xkn.1_Missense_Mutation_p.K213N|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.K61N	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	213	Poly-Lys.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCTTTGATTTCTTTTTCTTGT	0.473													A	37734802	C	A	37734802	3	1	104	1	0	0	0	0	1	0	0	0	12893	912	32	5	3232	5	RAB11FIP1	8	37734802	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7031141	37734802	108629220	3315	69929											
DDHD2	23259	broad.mit.edu	37	chr8	38090720	38090720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcacagcagctggaagagGcatatagctctggtaggtga	13	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:38090720G>A	uc003xlb.2	+	2	585	c.208G>A	c.(208-210)GCA>ACA	p.A70T	DDHD2_uc003xla.2_Missense_Mutation_p.A70T|DDHD2_uc003xlc.2_Missense_Mutation_p.A70T|DDHD2_uc011lbl.1_5'UTR	NM_015214	NP_056029	O94830	DDHD2_HUMAN	DDHD domain containing 2 isoform 1	70	WWE.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding			large_intestine(1)|ovary(1)	2	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GCTGGAAGAGGCATATAGCTC	0.378													A	38090720	G	A	38090720	3	1	104	1	0	0	0	0	1	0	0	0	4327	1203	42	2	210	2	DDHD2	8	38090720	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	355918	38090720	108273302	3316	69930											
ANK1	286	broad.mit.edu	37	chr8	41550298	41550298	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcatcttggcaaagatgacGaatttggccatgtagggcac	11	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:41550298G>A	uc003xok.2	-	31	3810	c.3726C>T	c.(3724-3726)TTC>TTT	p.F1242F	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Silent_p.F558F|ANK1_uc003xoi.2_Silent_p.F1242F|ANK1_uc003xoj.2_Silent_p.F1242F|ANK1_uc003xol.2_Silent_p.F1242F|ANK1_uc003xom.2_Silent_p.F1283F	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1242					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CAAAGATGACGAATTTGGCCA	0.537													A	41550298	G	A	41550298	2	1	104	1	0	0	0	0	0	0	0	1	620	1049	37	1		1	ANK1	8	41550298	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3459578	41550298	104813724	3317	69931											
MYST3	7994	broad.mit.edu	37	chr8	41789996	41789996	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcattcaaggtgttcatattCatggaattgacattataggc	9	6	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:41789996C>T	uc010lxb.2	-	18	6286	c.5742G>A	c.(5740-5742)ATG>ATA	p.M1914I	MYST3_uc010lxc.2_Missense_Mutation_p.M1914I|MYST3_uc003xon.3_Missense_Mutation_p.M1914I	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1914	Required for activation of RUNX1-2.|Met-rich.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			TGTTCATATTCATGGAATTGA	0.502													T	41789996	C	T	41789996	3	4	104	1	0	0	0	0	1	0	0	0	10104	826	29	4	276	4	MYST3	8	41789996	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	239698	41789996	104574026	3318	69932											
MYST3	7994	broad.mit.edu	37	chr8	41794925	41794925	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttcctcctcttcttcatcGatctcaaacgtgggttctaa	5	13	6	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:41794925G>A	uc010lxb.2	-	17	3745	c.3201C>T	c.(3199-3201)ATC>ATT	p.I1067I	MYST3_uc010lxc.2_Silent_p.I1067I|MYST3_uc003xon.3_Silent_p.I1067I	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1067					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CTTCTTCATCGATCTCAAACG	0.433													A	41794925	G	A	41794925	2	1	104	1	0	0	0	0	0	0	0	1	10104	1048	37	1		1	MYST3	8	41794925	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4929	41794925	104569097	3319	69933											
MYST3	7994	broad.mit.edu	37	chr8	41832248	41832248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcttgttcttggatatcacGaaataattccatatctttct	5	8	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:41832248G>A	uc010lxb.2	-	9	2000	c.1456C>T	c.(1456-1458)CGT>TGT	p.R486C	MYST3_uc010lxc.2_Missense_Mutation_p.R486C|MYST3_uc003xon.3_Missense_Mutation_p.R486C|MYST3_uc010lxd.2_Missense_Mutation_p.R486C	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	486	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			TGGATATCACGAAATAATTCC	0.393													A	41832248	G	A	41832248	3	1	104	1	0	0	0	0	1	0	0	0	10104	1058	37	1	4598	1	MYST3	8	41832248	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	37323	41832248	104531774	3320	69934											
AP3M2	10947	broad.mit.edu	37	chr8	42023053	42023053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatggaaacttccgcctgCtgtcttaccatgtcagtgca	9	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:42023053C>T	uc003xop.2	+	7	1069	c.778C>T	c.(778-780)CTG>TTG	p.L260L	AP3M2_uc003xoo.2_Silent_p.L260L|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Silent_p.L145L|AP3M2_uc003xor.1_Silent_p.L260L	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	260	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			CTTCCGCCTGCTGTCTTACCA	0.433													T	42023053	C	T	42023053	2	4	104	1	0	0	0	0	0	0	0	1	748	796	28	2		2	AP3M2	8	42023053	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	190805	42023053	104340969	3321	69935											
IKBKB	3551	broad.mit.edu	37	chr8	42129664	42129664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcagacatgtggggcctggGaaatgaaagagcgccttggg	17	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:42129664G>A	uc003xow.1	+	2	223	c.46G>A	c.(46-48)GAA>AAA	p.E16K	IKBKB_uc003xov.2_Missense_Mutation_p.E16K|IKBKB_uc010lxh.1_Missense_Mutation_p.G5E|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_5'UTR|IKBKB_uc003xox.1_5'UTR|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Intron|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_5'UTR	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	16	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	TGGGGCCTGGGAAATGAAAGA	0.542													A	42129664	G	A	42129664	3	1	104	1	0	0	0	0	1	0	0	0	7611	1175	41	4	48	4	IKBKB	8	42129664	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	106611	42129664	104234358	3322	69936											
CHRNB3	1142	broad.mit.edu	37	chr8	42587006	42587006	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatggttgacctcattttgAtcaatgaaaatgtcgacaga	8	8	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:42587006A>C	uc003xpi.1	+	5	684	c.556A>C	c.(556-558)ATC>CTC	p.I186L		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	186	Extracellular (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCTCATTTTGATCAATGAAAA	0.478													C	42587006	A	C	42587006	3	2	104	1	0	0	0	0	1	0	0	0	3392	333	12	5	574	5	CHRNB3	8	42587006	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	457342	42587006	103777016	3323	69937											
CHRNA6	8973	broad.mit.edu	37	chr8	42612120	42612120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatcttatctgcaggaacgcGaagagtctcaatgccatcat	8	10	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:42612120G>A	uc003xpj.2	-	4	371	c.325C>T	c.(325-327)CGC>TGC	p.R109C	CHRNA6_uc011lcw.1_Missense_Mutation_p.R94C	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	109	Extracellular.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GCAGGAACGCGAAGAGTCTCA	0.383													A	42612120	G	A	42612120	3	1	104	1	0	0	0	0	1	0	0	0	3387	1058	37	1	1171	1	CHRNA6	8	42612120	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	25114	42612120	103751902	3324	69938											
CHRNA6	8973	broad.mit.edu	37	chr8	42620276	42620276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggaaacgttttccacagGcctgatgaactggttgtaat	11	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:42620276G>A	uc003xpj.2	-	2	197	c.151C>T	c.(151-153)CCT>TCT	p.P51S	CHRNA6_uc011lcw.1_Missense_Mutation_p.P51S	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	51	Extracellular.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TTTTCCACAGGCCTGATGAAC	0.537													A	42620276	G	A	42620276	3	1	104	1	0	0	0	0	1	0	0	0	3387	1203	42	2	1353	2	CHRNA6	8	42620276	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	8156	42620276	103743746	3325	69939											
HOOK3	84376	broad.mit.edu	37	chr8	42761366	42761366	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagaccgtggaagatttaacGaatggggttgtgatggccca	14	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:42761366G>A	uc003xpr.2	+	2	350	c.108G>A	c.(106-108)ACG>ACA	p.T36T	HOOK3_uc010lxq.1_Silent_p.T36T	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	36	Sufficient for interaction with microtubules.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AAGATTTAACGAATGGGGTTG	0.408			T	RET	papillary thyroid								A	42761366	G	A	42761366	2	1	104	1	0	0	0	0	0	0	0	1	7284	1045	37	1		1	HOOK3	8	42761366	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	141090	42761366	103602656	3326	69940											
HOOK3	84376	broad.mit.edu	37	chr8	42828481	42828481	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatcaaagaaagcagataAactagattttgaatataagc	7	4	1	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:42828481A>C	uc003xpr.2	+	12	1414	c.1172A>C	c.(1171-1173)AAA>ACA	p.K391T	HOOK3_uc010lxq.1_Missense_Mutation_p.K391T	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	391	Potential.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AAAGCAGATAAACTAGATTTT	0.313			T	RET	papillary thyroid								C	42828481	A	C	42828481	3	2	104	1	0	0	0	0	1	0	0	0	7284	14	1	5	1218	5	HOOK3	8	42828481	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	67115	42828481	103535541	3327	69941											
HOOK3	84376	broad.mit.edu	37	chr8	42865454	42865454	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcatctgcagccttaaAaattgaagaattacaagaag	7	7	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:42865454A>C	uc003xpr.2	+	19	1987	c.1745A>C	c.(1744-1746)AAA>ACA	p.K582T		NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	582	Potential.|Required for interaction with MSR1.|Required for association with Golgi.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GCAGCCTTAAAAATTGAAGAA	0.209			T	RET	papillary thyroid								C	42865454	A	C	42865454	3	2	104	1	0	0	0	0	1	0	0	0	7284	14	1	5	1819	5	HOOK3	8	42865454	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	36973	42865454	103498568	3328	69942											
POTEA	340441	broad.mit.edu	37	chr8	43197428	43197428	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgcttttctctaattatgaGacttttacattgctcattga	5	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:43197428G>T	uc003xpz.1	+	11	1360	c.1317G>T	c.(1315-1317)GAG>GAT	p.E439D	POTEA_uc003xqa.1_Missense_Mutation_p.E393D	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	439										ovary(1)	1						CTAATTATGAGACTTTTACAT	0.358													T	43197428	G	T	43197428	3	4	104	1	0	0	0	0	1	0	0	0	12261	933	33	5	1359	5	POTEA	8	43197428	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	331974	43197428	103166594	3329	69943											
KIAA0146	23514	broad.mit.edu	37	chr8	48352951	48352951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgtgccatgcaagttgCcatgtgtgagcagttattgg	14	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:48352951C>T	uc003xqd.2	+	8	953	c.944C>T	c.(943-945)GCC>GTC	p.A315V	KIAA0146_uc011lcz.1_RNA|KIAA0146_uc011lda.1_Missense_Mutation_p.A4V|KIAA0146_uc011ldb.1_Missense_Mutation_p.A315V|KIAA0146_uc010lxs.2_5'UTR|KIAA0146_uc011ldc.1_Missense_Mutation_p.A245V|KIAA0146_uc011ldd.1_Missense_Mutation_p.A255V|KIAA0146_uc003xqe.2_5'UTR|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Missense_Mutation_p.A4V|KIAA0146_uc010lxt.2_Missense_Mutation_p.A4V	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	315											0		Lung NSC(58;0.175)				ATGCAAGTTGCCATGTGTGAG	0.463													T	48352951	C	T	48352951	3	4	104	1	0	0	0	0	1	0	0	0	8157	739	26	2	974	2	KIAA0146	8	48352951	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5155523	48352951	98011071	3330	69944											
PRKDC	5591	broad.mit.edu	37	chr8	48769854	48769854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagtgcttcgcgtaagggcGaaagacctacaagaggatgt	13	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:48769854G>A	uc003xqi.2	-	50	6529	c.6472C>T	c.(6472-6474)CGC>TGC	p.R2158C	PRKDC_uc003xqj.2_Missense_Mutation_p.R2158C|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2158					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GCGTAAGGGCGAAAGACCTAC	0.413								NHEJ					A	48769854	G	A	48769854	3	1	104	1	0	0	0	0	1	0	0	0	12521	1058	37	1	6066	1	PRKDC	8	48769854	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	416903	48769854	97594168	3331	69945											
PRKDC	5591	broad.mit.edu	37	chr8	48794568	48794568	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acacttcttccagtgttgcaGaattgtagtcgcaagtttca	8	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:48794568G>T	uc003xqi.2	-	38	4924	c.4867C>A	c.(4867-4869)CTG>ATG	p.L1623M	PRKDC_uc003xqj.2_Missense_Mutation_p.L1623M|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1623					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CAGTGTTGCAGAATTGTAGTC	0.463								NHEJ					T	48794568	G	T	48794568	3	4	104	1	0	0	0	0	1	0	0	0	12521	933	33	5	7719	5	PRKDC	8	48794568	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	24714	48794568	97569454	3332	69946											
PRKDC	5591	broad.mit.edu	37	chr8	48815210	48815210	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaagcgcaaggctataaAgtcgcttgaaaagcgatttg	13	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:48815210A>C	uc003xqi.2	-	27	3245	c.3188T>G	c.(3187-3189)CTT>CGT	p.L1063R	PRKDC_uc003xqj.2_Missense_Mutation_p.L1063R|PRKDC_uc011ldh.1_Missense_Mutation_p.L1063R	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1063					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAGGCTATAAAGTCGCTTGAA	0.433								NHEJ					C	48815210	A	C	48815210	3	2	104	1	0	0	0	0	1	0	0	0	12521	72	3	5	9437	5	PRKDC	8	48815210	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	20642	48815210	97548812	3333	69947											
EFCAB1	79645	broad.mit.edu	37	chr8	49642308	49642308	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagtgttatttcaaccaaatCtttaattccttcatcagggt	5	9	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:49642308C>A	uc003xqo.2	-	4	602	c.442G>T	c.(442-444)GAT>TAT	p.D148Y	EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Missense_Mutation_p.D96Y|EFCAB1_uc010lxx.2_RNA|EFCAB1_uc011ldk.1_RNA	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1 isoform a	148	EF-hand 3.						calcium ion binding				0		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TCAACCAAATCTTTAATTCCT	0.353													A	49642308	C	A	49642308	3	1	104	1	0	0	0	0	1	0	0	0	4933	913	32	5	205	5	EFCAB1	8	49642308	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	827098	49642308	96721714	3334	69948											
SNAI2	6591	broad.mit.edu	37	chr8	49832466	49832466	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctcttacccgtgtgagttCtaatgtgtccttgaagcaac	8	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:49832466C>A	uc003xqp.2	-	2	778	c.614G>T	c.(613-615)AGA>ATA	p.R205I		NM_003068	NP_003059	O43623	SNAI2_HUMAN	snail 2	205	C2H2-type 3.				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CGTGTGAGTTCTAATGTGTCC	0.483													A	49832466	C	A	49832466	3	1	104	1	0	0	0	0	1	0	0	0	14827	913	32	5	200	5	SNAI2	8	49832466	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	190158	49832466	96531556	3335	69949											
PXDNL	137902	broad.mit.edu	37	chr8	52252189	52252189	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagagaaaacaaacctgctCtctgagtgctgtgatggttt	11	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:52252189C>A	uc003xqu.3	-	21	4242	c.4141G>T	c.(4141-4143)GAG>TAG	p.E1381*	PXDNL_uc003xqt.3_Intron	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1381					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CAAACCTGCTCTCTGAGTGCT	0.388													A	52252189	C	A	52252189	4	1	104	1	0	0	0	0	0	1	0	0	12848	922	32	5	262	5	PXDNL	8	52252189	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2419723	52252189	94111833	3336	69950											
PCMTD1	115294	broad.mit.edu	37	chr8	52744080	52744080	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatgaaacagcaaggatAtttttactttcccaagtgtt	7	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:52744080A>G	uc003xqx.3	-	5	971	c.630T>C	c.(628-630)AAT>AAC	p.N210N	PCMTD1_uc011ldm.1_Silent_p.N80N|PCMTD1_uc003xqw.3_Silent_p.N210N|PCMTD1_uc011ldn.1_Silent_p.N22N|PCMTD1_uc010lya.2_Silent_p.N134N	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate)	210						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0		Lung NSC(129;0.0795)|all_lung(136;0.144)				CAGCAAGGATATTTTTACTTT	0.368													G	52744080	A	G	52744080	2	3	104	1	0	0	0	0	0	0	0	1	11586	446	16	3		3	PCMTD1	8	52744080	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	491891	52744080	93619942	3337	69951											
ST18	9705	broad.mit.edu	37	chr8	53055523	53055523	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgagatctcttgcatgaAgcttgggtttagggcttggt	13	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:53055523A>C	uc003xqz.2	-	12	2291	c.2135T>G	c.(2134-2136)CTT>CGT	p.L712R	ST18_uc011ldq.1_Missense_Mutation_p.L359R|ST18_uc011ldr.1_Missense_Mutation_p.L677R|ST18_uc011lds.1_Missense_Mutation_p.L617R|ST18_uc003xra.2_Missense_Mutation_p.L712R	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	712						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCTTGCATGAAGCTTGGGTTT	0.403													C	53055523	A	C	53055523	3	2	104	1	0	0	0	0	1	0	0	0	15211	72	3	5	1048	5	ST18	8	53055523	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	311443	53055523	93308499	3338	69952											
FAM150A	389658	broad.mit.edu	37	chr8	53454968	53454968	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttacctgtgaaatgctttatGaatttgtcttttaagttaga	7	4	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:53454968G>T	uc003xrd.2	-	2	433	c.228C>A	c.(226-228)TTC>TTA	p.F76L	FAM150A_uc011ldt.1_Missense_Mutation_p.F76L	NM_207413	NP_997296	Q6UXT8	F150A_HUMAN	hypothetical protein LOC389658 precursor	76						extracellular region					0		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				AATGCTTTATGAATTTGTCTT	0.299													T	53454968	G	T	53454968	3	4	104	1	0	0	0	0	1	0	0	0	5456	1281	45	5	173	5	FAM150A	8	53454968	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	399445	53454968	92909054	3339	69953											
RB1CC1	9821	broad.mit.edu	37	chr8	53573751	53573751	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctaagagcttcaacaattttGactctttctaacagctctat	4	10	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:53573751G>T	uc003xre.3	-	10	2007	c.1449C>A	c.(1447-1449)GTC>GTA	p.V483V	RB1CC1_uc003xrf.3_Silent_p.V483V	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	483					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CAACAATTTTGACTCTTTCTA	0.393													T	53573751	G	T	53573751	2	4	104	1	0	0	0	0	0	0	0	1	13099	1277	45	5		5	RB1CC1	8	53573751	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	118783	53573751	92790271	3340	69954											
RB1CC1	9821	broad.mit.edu	37	chr8	53596199	53596199	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttccatgtcattttctgtCgaaaaggtagttttaggaat	8	5	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:53596199C>T	uc003xre.3	-	5	837	c.279G>A	c.(277-279)TCG>TCA	p.S93S	RB1CC1_uc003xrf.3_Silent_p.S93S	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	93					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CATTTTCTGTCGAAAAGGTAG	0.318													T	53596199	C	T	53596199	2	4	104	1	0	0	0	0	0	0	0	1	13099	871	31	1		1	RB1CC1	8	53596199	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	22448	53596199	92767823	3341	69955											
TCEA1	6917	broad.mit.edu	37	chr8	54899528	54899528	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatatacacacaaaggataTcttcttcaatttgagatcct	5	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:54899528T>C	uc003xru.2	-	6	846	c.523_splice	c.e6+1	p.A175_splice	TCEA1_uc003xrv.2_Splice_Site_p.A154_splice|TCEA1_uc011ldw.1_Intron|TCEA1_uc010lyg.2_5'Flank	NM_006756	NP_006747	P23193	TCEA1_HUMAN	transcription elongation factor A 1 isoform 1						positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding				0		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			ACAAAGGATATCTTCTTCAAT	0.189			T	PLAG1	salivary adenoma								C	54899528	T	C	54899528	5	2	104	1	0	0	0	0	0	0	1	0	15664	1449	50	3	401	3	TCEA1	8	54899528	Splice_Site	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1303329	54899528	91464494	3342	69956											
RP1	6101	broad.mit.edu	37	chr8	55539553	55539553	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attaatgatcataatactaaAagtcatatagctgctgaaaa	5	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:55539553A>C	uc003xsd.1	+	4	3259	c.3111A>C	c.(3109-3111)AAA>AAC	p.K1037N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1037					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATAATACTAAAAGTCATATAG	0.388													C	55539553	A	C	55539553	3	2	104	1	0	0	0	0	1	0	0	0	13532	11	1	5	3121	5	RP1	8	55539553	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	640025	55539553	90824469	3343	69957											
RP1	6101	broad.mit.edu	37	chr8	55540960	55540960	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctagtaaaactttagaattGatagacatctctagtaagaa	7	5	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:55540960G>A	uc003xsd.1	+	4	4666	c.4518G>A	c.(4516-4518)TTG>TTA	p.L1506L	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1506					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTTTAGAATTGATAGACATCT	0.343													A	55540960	G	A	55540960	2	1	104	1	0	0	0	0	0	0	0	1	13532	1281	45	4		4	RP1	8	55540960	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1407	55540960	90823062	3344	69958											
RP1	6101	broad.mit.edu	37	chr8	55542456	55542456	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgacttgatgggtaaaagaaGaaaacaaaaaagaattaact	8	3	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:55542456G>A	uc003xsd.1	+	4	6162	c.6014G>A	c.(6013-6015)AGA>AAA	p.R2005K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	2005					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGTAAAAGAAGAAAACAAAAA	0.294													A	55542456	G	A	55542456	3	1	104	1	0	0	0	0	1	0	0	0	13532	942	33	4	6024	4	RP1	8	55542456	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1496	55542456	90821566	3345	69959											
CYP7A1	1581	broad.mit.edu	37	chr8	59409434	59409434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagggctggaaagactttgtCgaattgcttgaagttgtcaa	12	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:59409434C>T	uc003xtm.3	-	3	700	c.637G>A	c.(637-639)GAC>AAC	p.D213N		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	213					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AAGACTTTGTCGAATTGCTTG	0.478									Neonatal_Giant_Cell_Hepatitis				T	59409434	C	T	59409434	3	4	104	1	0	0	0	0	1	0	0	0	4196	884	31	1	893	1	CYP7A1	8	59409434	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3866978	59409434	86954588	3346	69960											
SDCBP	6386	broad.mit.edu	37	chr8	59488523	59488523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtaactggtaatgatgttgGaattcgtagagcagaaatta	11	3	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:59488523G>A	uc003xtn.2	+	5	455	c.305G>A	c.(304-306)GGA>GAA	p.G102E	SDCBP_uc003xto.2_Missense_Mutation_p.G101E|SDCBP_uc003xtr.2_Missense_Mutation_p.G101E|SDCBP_uc003xtp.2_Missense_Mutation_p.G96E|SDCBP_uc003xtq.2_Missense_Mutation_p.G102E|SDCBP_uc003xts.2_Missense_Mutation_p.G108E|SDCBP_uc011led.1_Intron	NM_005625	NP_005616	O00560	SDCB1_HUMAN	syntenin isoform 1	102					actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding				0		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AATGATGTTGGAATTCGTAGA	0.363													A	59488523	G	A	59488523	3	1	104	1	0	0	0	0	1	0	0	0	13955	1174	41	4	319	4	SDCBP	8	59488523	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	79089	59488523	86875499	3347	69961											
CA8	767	broad.mit.edu	37	chr8	61121466	61121466	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacatgtgtcctcagccttcGaaattcttctatctgaaaat	5	10	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:61121466G>A	uc003xtz.1	-	8	999	c.751C>T	c.(751-753)CGA>TGA	p.R251*	CA8_uc003xua.1_Nonsense_Mutation_p.R251*	NM_004056	NP_004047	P35219	CAH8_HUMAN	carbonic anhydrase VIII	251					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				CTCAGCCTTCGAAATTCTTCT	0.388													A	61121466	G	A	61121466	4	1	104	1	0	0	0	0	0	1	0	0	2523	1066	37	1	125	1	CA8	8	61121466	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1632943	61121466	85242556	3348	69962											
CHD7	55636	broad.mit.edu	37	chr8	61693639	61693639	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccgaatgctcagctagtgaaGagtgatgattacctgccatc	10	10	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:61693639G>A	uc003xue.2	+	3	2223	c.1746G>A	c.(1744-1746)AAG>AAA	p.K582K		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	582					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGCTAGTGAAGAGTGATGATT	0.448													A	61693639	G	A	61693639	2	1	104	1	0	0	0	0	0	0	0	1	3330	933	33	4		4	CHD7	8	61693639	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	572173	61693639	84670383	3349	69963											
CHD7	55636	broad.mit.edu	37	chr8	61769092	61769092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgaaagagctgccaagaggcGaaatctcatggagatggttg	14	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:61769092G>A	uc003xue.2	+	34	7730	c.7253G>A	c.(7252-7254)CGA>CAA	p.R2418Q		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2418	Potential.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GCCAAGAGGCGAAATCTCATG	0.483													A	61769092	G	A	61769092	3	1	104	1	0	0	0	0	1	0	0	0	3330	1058	37	1	7383	1	CHD7	8	61769092	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	75453	61769092	84594930	3350	69964											
ASPH	444	broad.mit.edu	37	chr8	62563669	62563669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgttcttttgcttcatcttCgatattctggggttctaaaa	7	7	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:62563669C>T	uc003xuj.2	-	5	699	c.430G>A	c.(430-432)GAA>AAA	p.E144K	ASPH_uc011leg.1_Missense_Mutation_p.E115K|ASPH_uc003xuo.2_Missense_Mutation_p.E144K|ASPH_uc011leh.1_Missense_Mutation_p.E130K|ASPH_uc003xul.2_Missense_Mutation_p.E130K|ASPH_uc011lei.1_Missense_Mutation_p.E130K|ASPH_uc011lej.1_Missense_Mutation_p.E130K|ASPH_uc003xun.2_Missense_Mutation_p.E144K|ASPH_uc011lek.1_Missense_Mutation_p.E144K|ASPH_uc003xum.2_Missense_Mutation_p.E144K	NM_004318	NP_004309	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase isoform a	144	Glu-rich.|Lumenal (Potential).				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			ovary(3)	3	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GCTTCATCTTCGATATTCTGG	0.348													T	62563669	C	T	62563669	3	4	104	1	0	0	0	0	1	0	0	0	1053	893	31	1	1942	1	ASPH	8	62563669	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	794577	62563669	83800353	3351	69965											
ARMC1	55156	broad.mit.edu	37	chr8	66539626	66539626	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cactcatggtggaagtggaaGaattcatcttctatgccatg	10	8	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:66539626G>T	uc003xvl.2	-	2	243	c.8C>A	c.(7-9)TCT>TAT	p.S3Y	ARMC1_uc011leo.1_5'UTR	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	armadillo repeat-containing protein	3					metal ion transport		metal ion binding			skin(1)	1			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			GGAAGTGGAAGAATTCATCTT	0.418													T	66539626	G	T	66539626	3	4	104	1	0	0	0	0	1	0	0	0	949	942	33	5	864	5	ARMC1	8	66539626	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3975957	66539626	79824396	3352	69966											
TRIM55	84675	broad.mit.edu	37	chr8	67047359	67047359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacaaagactgccaggtggCtcccctcactcatgtgttcc	8	15	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:67047359C>T	uc003xvv.2	+	3	702	c.476C>T	c.(475-477)GCT>GTT	p.A159V	TRIM55_uc003xvu.2_Missense_Mutation_p.A159V|TRIM55_uc003xvw.2_Missense_Mutation_p.A159V|TRIM55_uc003xvx.2_Missense_Mutation_p.A159V	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	159						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TGCCAGGTGGCTCCCCTCACT	0.572													T	67047359	C	T	67047359	3	4	104	1	0	0	0	0	1	0	0	0	16526	797	28	2	486	2	TRIM55	8	67047359	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	507733	67047359	79316663	3353	69967											
RRS1	23212	broad.mit.edu	37	chr8	67341435	67341435	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcagagaagttgcaacgCatcacggtgcacaaggagct	14	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:67341435C>T	uc003xwa.2	+	1	173	c.69C>T	c.(67-69)CGC>CGT	p.R23R		NM_015169	NP_055984	Q15050	RRS1_HUMAN	homolog of yeast ribosome biogenesis regulatory	23					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus					0		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AGTTGCAACGCATCACGGTGC	0.677											OREG0018806	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	67341435	C	T	67341435	2	4	104	1	0	0	0	0	0	0	0	1	13692	697	25	2		2	RRS1	8	67341435	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	294076	67341435	79022587	3354	69968											
VCPIP1	80124	broad.mit.edu	37	chr8	67578876	67578876	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttgggtgcccccgtAaccccgagcagcgcgttccg	11	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:67578876A>G	uc003xwn.2	-	1	577	c.318T>C	c.(316-318)GTT>GTC	p.V106V	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	106					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GTGCCCCCGTAACCCCGAGCA	0.587													G	67578876	A	G	67578876	2	3	104	1	0	0	0	0	0	0	0	1	17138	349	13	3		3	VCPIP1	8	67578876	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	237441	67578876	78785146	3355	69969											
C8orf44	56260	broad.mit.edu	37	chr8	67591956	67591956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttgttctcattttgtagGtattagaattatttctgaat	7	3	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:67591956G>A	uc003xwo.1	+	3	400	c.247G>A	c.(247-249)GTA>ATA	p.V83I	SGK3_uc003xwp.2_5'UTR|C8orf44_uc003xwq.1_Missense_Mutation_p.V83I	NM_019607	NP_062553	Q96CB5	CH044_HUMAN	hypothetical protein LOC56260	83											0	Breast(64;0.186)		Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CATTTTGTAGGTATTAGAATT	0.403													A	67591956	G	A	67591956	3	1	104	1	0	0	0	0	1	0	0	0	2429	1275	44	4	253	4	C8orf44	8	67591956	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13080	67591956	78772066	3356	69970											
COPS5	10987	broad.mit.edu	37	chr8	67974198	67974198	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgttggccagttcccaggTtttctgggccataccgctcc	11	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:67974198T>C	uc003xxe.2	-	1	365	c.34A>G	c.(34-36)ACC>GCC	p.T12A	CSPP1_uc003xxg.1_5'Flank|CSPP1_uc003xxh.1_5'Flank|CSPP1_uc003xxi.2_5'Flank|CSPP1_uc003xxj.2_5'Flank|COPS5_uc003xxd.2_5'UTR|COPS5_uc003xxf.2_Silent_p.K40K|COPS5_uc010lyv.1_Missense_Mutation_p.T12A	NM_006837	NP_006828	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	12					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			ovary(1)|skin(1)	2	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGTTCCCAGGTTTTCTGGGCC	0.542													C	67974198	T	C	67974198	3	2	104	1	0	0	0	0	1	0	0	0	3736	1725	60	3	1002	3	COPS5	8	67974198	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	382242	67974198	78389824	3357	69971											
CSPP1	79848	broad.mit.edu	37	chr8	68007713	68007713	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taccgacaactagatgatgaAatcgaattaaggaatagaag	9	5	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:68007713A>C	uc003xxi.2	+	8	832	c.801A>C	c.(799-801)GAA>GAC	p.E267D	CSPP1_uc003xxg.1_Missense_Mutation_p.E259D|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.E232D|CSPP1_uc003xxk.2_5'UTR	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	267	Potential.					centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TAGATGATGAAATCGAATTAA	0.393													C	68007713	A	C	68007713	3	2	104	1	0	0	0	0	1	0	0	0	3962	11	1	5	831	5	CSPP1	8	68007713	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	33515	68007713	78356309	3358	69972											
CSPP1	79848	broad.mit.edu	37	chr8	68030586	68030586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgggtccaggaatactttcGatcccagtcttgcttattgt	9	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:68030586G>A	uc003xxi.2	+	14	1721	c.1690G>A	c.(1690-1692)GAT>AAT	p.D564N	CSPP1_uc003xxg.1_Missense_Mutation_p.D556N|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.D529N|CSPP1_uc003xxk.2_Missense_Mutation_p.D235N	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	564						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GAATACTTTCGATCCCAGTCT	0.393													A	68030586	G	A	68030586	3	1	104	1	0	0	0	0	1	0	0	0	3962	1058	37	1	1744	1	CSPP1	8	68030586	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	22873	68030586	78333436	3359	69973											
ARFGEF1	10565	broad.mit.edu	37	chr8	68130137	68130137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctaaacagtttgtaccagatCgcgctaactgctcattgtct	7	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:68130137C>T	uc003xxo.1	-	32	4883	c.4493G>A	c.(4492-4494)CGA>CAA	p.R1498Q	ARFGEF1_uc003xxl.1_Missense_Mutation_p.R952Q|ARFGEF1_uc003xxn.1_Missense_Mutation_p.R481Q	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1498					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGTACCAGATCGCGCTAACTG	0.368													T	68130137	C	T	68130137	3	4	104	1	0	0	0	0	1	0	0	0	852	884	31	1	1088	1	ARFGEF1	8	68130137	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	99551	68130137	78233885	3360	69974											
ARFGEF1	10565	broad.mit.edu	37	chr8	68208748	68208748	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgattgatgagatttTtgcttgctaagtagatattg	10	3	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:68208748T>G	uc003xxo.1	-	5	947	c.557A>C	c.(556-558)AAA>ACA	p.K186T		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	186					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GATGAGATTTTTGCTTGCTAA	0.373													G	68208748	T	G	68208748	3	3	104	1	0	0	0	0	1	0	0	0	852	1841	64	5	5132	5	ARFGEF1	8	68208748	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	78611	68208748	78155274	3361	69975											
PREX2	80243	broad.mit.edu	37	chr8	68992692	68992692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtagtccttgaaaaaagcGaattcaaagatgaaccccta	7	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:68992692G>A	uc003xxv.1	+	16	1684	c.1657G>A	c.(1657-1659)GAA>AAA	p.E553K	PREX2_uc003xxu.1_Missense_Mutation_p.E553K|PREX2_uc011lez.1_Missense_Mutation_p.E488K	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	553	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						TGAAAAAAGCGAATTCAAAGA	0.323													A	68992692	G	A	68992692	3	1	104	1	0	0	0	0	1	0	0	0	12477	1059	37	1	1719	1	PREX2	8	68992692	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	783944	68992692	77371330	3362	69976											
PREX2	80243	broad.mit.edu	37	chr8	69136820	69136820	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agagttcagaacacagcgaaGaatttgggagtcagagaccg	13	7	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:69136820G>T	uc003xxv.1	+	39	4761	c.4734G>T	c.(4732-4734)AAG>AAT	p.K1578N		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1578					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						ACACAGCGAAGAATTTGGGAG	0.463													T	69136820	G	T	69136820	3	4	104	1	0	0	0	0	1	0	0	0	12477	933	33	5	5117	5	PREX2	8	69136820	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	144128	69136820	77227202	3363	69977											
C8orf34	116328	broad.mit.edu	37	chr8	69633596	69633596	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaaaaataaaaatagAttccttgcctgggactgaag	7	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:69633596A>G	uc010lyz.2	+	10	1119	c.1070A>G	c.(1069-1071)GAT>GGT	p.D357G	C8orf34_uc003xyb.2_Missense_Mutation_p.D332G	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	357					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ataaaaataGATTCCTTGCCT	0.299													G	69633596	A	G	69633596	3	3	104	1	0	0	0	0	1	0	0	0	2422	347	12	3	1029	3	C8orf34	8	69633596	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	496776	69633596	76730426	3364	69978											
SLCO5A1	81796	broad.mit.edu	37	chr8	70585235	70585235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttttgcaggccagtctcttCgtggaattctccctgggtgc	11	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:70585235C>T	uc003xyl.2	-	10	3123	c.2416G>A	c.(2416-2418)GAA>AAA	p.E806K	SLCO5A1_uc010lzb.2_Missense_Mutation_p.E751K|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	806	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCAGTCTCTTCGTGGAATTCT	0.587													T	70585235	C	T	70585235	3	4	104	1	0	0	0	0	1	0	0	0	14731	893	31	1	134	1	SLCO5A1	8	70585235	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	951639	70585235	75778787	3365	69979											
NCOA2	10499	broad.mit.edu	37	chr8	71033568	71033568	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccctcctgcttaatcataTccattccaggcagctggttt	6	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:71033568T>C	uc003xyn.1	-	22	4514	c.4352A>G	c.(4351-4353)GAT>GGT	p.D1451G	NCOA2_uc011lfb.1_Missense_Mutation_p.D539G	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1451					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CTTAATCATATCCATTCCAGG	0.433			T	RUNXBP2	AML								C	71033568	T	C	71033568	3	2	104	1	0	0	0	0	1	0	0	0	10229	1435	50	3	50	3	NCOA2	8	71033568	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	448333	71033568	75330454	3366	69980											
NCOA2	10499	broad.mit.edu	37	chr8	71068536	71068536	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagagtctgtgcaaaatTttatgcttctccttgagcga	9	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:71068536T>G	uc003xyn.1	-	11	2226	c.2064A>C	c.(2062-2064)AAA>AAC	p.K688N		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	688					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGTGCAAAATTTTATGCTTCT	0.522			T	RUNXBP2	AML								G	71068536	T	G	71068536	3	3	104	1	0	0	0	0	1	0	0	0	10229	1838	64	5	2382	5	NCOA2	8	71068536	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	34968	71068536	75295486	3367	69981											
NCOA2	10499	broad.mit.edu	37	chr8	71075749	71075749	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgatgagggaagaactggTctttccttcatgggaactct	11	8	4	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:71075749T>G	uc003xyn.1	-	8	945	c.783A>C	c.(781-783)AGA>AGC	p.R261S		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	261					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GAAGAACTGGTCTTTCCTTCA	0.388			T	RUNXBP2	AML								G	71075749	T	G	71075749	3	3	104	1	0	0	0	0	1	0	0	0	10229	1664	58	5	3675	5	NCOA2	8	71075749	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	7213	71075749	75288273	3368	69982											
NCOA2	10499	broad.mit.edu	37	chr8	71082507	71082507	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagatgctatatacactTttgttcatcagctcttcttg	6	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:71082507T>G	uc003xyn.1	-	6	633	c.471A>C	c.(469-471)AAA>AAC	p.K157N		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	157	PAS.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATATACACTTTTGTTCATCA	0.438			T	RUNXBP2	AML								G	71082507	T	G	71082507	3	3	104	1	0	0	0	0	1	0	0	0	10229	1838	64	5	3995	5	NCOA2	8	71082507	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	6758	71082507	75281515	3369	69983											
NCOA2	10499	broad.mit.edu	37	chr8	71126174	71126174	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acgaatttgcttcacagtttCttttaagattgcacatttgt	6	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:71126174C>A	uc003xyn.1	-	4	385	c.223G>T	c.(223-225)GAA>TAA	p.E75*		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	75	Basic motif.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TTCACAGTTTCTTTTAAGATT	0.313			T	RUNXBP2	AML								A	71126174	C	A	71126174	4	1	104	1	0	0	0	0	0	1	0	0	10229	922	32	5	4251	5	NCOA2	8	71126174	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	43667	71126174	75237848	3370	69984											
TRAM1	23471	broad.mit.edu	37	chr8	71495976	71495976	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accaacagtcagtactgaaaGaattaaagtcagaagtcttc	7	8	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:71495976G>T	uc003xyo.1	-	9	969	c.799C>A	c.(799-801)CTT>ATT	p.L267I	TRAM1_uc011lfc.1_Missense_Mutation_p.L236I	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	267	Helical; (Potential).|TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			ovary(1)	1			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AGTACTGAAAGAATTAAAGTC	0.388													T	71495976	G	T	71495976	3	4	104	1	0	0	0	0	1	0	0	0	16448	942	33	5	337	5	TRAM1	8	71495976	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	369802	71495976	74868046	3371	69985											
LACTB2	51110	broad.mit.edu	37	chr8	71553193	71553193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatttctcaaagttctcacGaaataatgtaagaatttgct	6	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:71553193G>A	uc011lfd.1	-	5	777	c.685C>T	c.(685-687)CGT>TGT	p.R229C	LACTB2_uc003xyp.2_Missense_Mutation_p.R229C	NM_016027	NP_057111	Q53H82	LACB2_HUMAN	lactamase, beta 2	229							hydrolase activity|metal ion binding			ovary(1)	1	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AAGTTCTCACGAAATAATGTA	0.294													A	71553193	G	A	71553193	3	1	104	1	0	0	0	0	1	0	0	0	8598	1058	37	1	193	1	LACTB2	8	71553193	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	57217	71553193	74810829	3372	69986											
EYA1	2138	broad.mit.edu	37	chr8	72246342	72246342	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tattccttacctgaacctgaGaaattgtttaaagacccgtc	6	10	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:72246342G>T	uc003xys.3	-	3	479	c.192C>A	c.(190-192)TTC>TTA	p.F64L	EYA1_uc003xyr.3_Missense_Mutation_p.F64L|EYA1_uc003xyt.3_Missense_Mutation_p.F31L|EYA1_uc010lzf.2_5'UTR|EYA1_uc003xyu.2_Missense_Mutation_p.F64L|EYA1_uc011lfe.1_Missense_Mutation_p.F64L|EYA1_uc003xyv.2_5'UTR	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	64					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTGAACCTGAGAAATTGTTTA	0.323													T	72246342	G	T	72246342	3	4	104	1	0	0	0	0	1	0	0	0	5328	933	33	5	1646	5	EYA1	8	72246342	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	693149	72246342	74117680	3373	69987											
MSC	9242	broad.mit.edu	37	chr8	72756409	72756409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatcactcaccgagcccgtgGacatcccgttgtcccccttg	9	17	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:72756409G>A	uc003xyx.1	-	1	323	c.5C>T	c.(4-6)TCC>TTC	p.S2F	uc011lff.1_Intron|uc003xyy.2_RNA	NM_005098	NP_005089	O60682	MUSC_HUMAN	musculin	2					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CGAGCCCGTGGACATCCCGTT	0.706													A	72756409	G	A	72756409	3	1	104	1	0	0	0	0	1	0	0	0	9868	1174	41	4	623	4	MSC	8	72756409	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	510067	72756409	73607613	3374	69988											
TRPA1	8989	broad.mit.edu	37	chr8	72973946	72973946	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatatcatcagtttaacaatCtcagtggctccctgggtggc	10	10	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:72973946C>A	uc003xza.2	-	7	1033	c.858G>T	c.(856-858)GAG>GAT	p.E286D		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	286	Cytoplasmic (Potential).|ANK 7.					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	GTTTAACAATCTCAGTGGCTC	0.423													A	72973946	C	A	72973946	3	1	104	1	0	0	0	0	1	0	0	0	16574	912	32	5	2585	5	TRPA1	8	72973946	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	217537	72973946	73390076	3375	69989											
TRPA1	8989	broad.mit.edu	37	chr8	72983961	72983961	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttaccttccaaagaggaatCtctggtgatcttctccatta	7	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:72983961C>A	uc003xza.2	-	2	428	c.253G>T	c.(253-255)GAT>TAT	p.D85Y		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	85	Cytoplasmic (Potential).|ANK 1.					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	AAAGAGGAATCTCTGGTGATC	0.353													A	72983961	C	A	72983961	3	1	104	1	0	0	0	0	1	0	0	0	16574	913	32	5	3210	5	TRPA1	8	72983961	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	10015	72983961	73380061	3376	69990											
LY96	23643	broad.mit.edu	37	chr8	74922307	74922307	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgaatcttccaaagcgcaaaGaagttatttgccgaggatct	9	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:74922307G>T	uc003yad.2	+	3	365	c.274G>T	c.(274-276)GAA>TAA	p.E92*		NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	MD-2 protein precursor	92					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding				0	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			AAAGCGCAAAGAAGTTATTTG	0.343													T	74922307	G	T	74922307	4	4	104	1	0	0	0	0	0	1	0	0	9102	943	33	5	284	5	LY96	8	74922307	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1938346	74922307	71441715	3377	69991											
JPH1	56704	broad.mit.edu	37	chr8	75233263	75233263	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcgccccttgaaaccatgtGaccactccccccggtacatc	7	18	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:75233263G>T	uc003yae.2	-	1	300	c.260C>A	c.(259-261)TCA>TAA	p.S87*	JPH1_uc003yaf.2_Nonsense_Mutation_p.S87*|JPH1_uc003yag.1_Intron	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	87	Gly-rich.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GAAACCATGTGACCACTCCCC	0.677													T	75233263	G	T	75233263	4	4	104	1	0	0	0	0	0	1	0	0	7960	1294	45	5	1745	5	JPH1	8	75233263	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	310956	75233263	71130759	3378	69992											
ZFHX4	79776	broad.mit.edu	37	chr8	77617005	77617005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgtgttgcacagtttcCgtgtctatgatctccgacac	9	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:77617005C>T	uc003yav.2	+	2	1069	c.682C>T	c.(682-684)CGT>TGT	p.R228C	ZFHX4_uc003yat.1_Missense_Mutation_p.R228C|ZFHX4_uc003yau.1_Missense_Mutation_p.R228C|ZFHX4_uc003yaw.1_Missense_Mutation_p.R228C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	228						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCACAGTTTCCGTGTCTATGA	0.463										HNSCC(33;0.089)			T	77617005	C	T	77617005	3	4	104	1	0	0	0	0	1	0	0	0	17632	652	23	1	684	1	ZFHX4	8	77617005	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2383742	77617005	68747017	3379	69993											
ZFHX4	79776	broad.mit.edu	37	chr8	77617895	77617895	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgaaaagggtacctcgtcCtcctcggcgactgtttctga	10	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:77617895C>A	uc003yav.2	+	2	1959	c.1572C>A	c.(1570-1572)TCC>TCA	p.S524S	ZFHX4_uc003yat.1_Silent_p.S524S|ZFHX4_uc003yau.1_Silent_p.S524S|ZFHX4_uc003yaw.1_Silent_p.S524S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	524	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTACCTCGTCCTCCTCGGCGA	0.433										HNSCC(33;0.089)			A	77617895	C	A	77617895	2	1	104	1	0	0	0	0	0	0	0	1	17632	668	24	5		5	ZFHX4	8	77617895	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	890	77617895	68746127	3380	69994											
ZFHX4	79776	broad.mit.edu	37	chr8	77617929	77617930	+	Frame_Shift_Ins	INS	-	-	A													ttctgatgacacagaaaagaINSaaaaacagactgctgctgtt							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:77617928_77617929G>GA	uc003yau.2	+	1	1992_1993	c.1605_1606G>GA	c.(1603-1608)aagaaafs	p.K535fs	ZFHX4_uc003yat.1_Frame_Shift_Ins_p.K535fs|ZFHX4_uc003yaw.1_Frame_Shift_Ins_p.K535fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	535						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACACAGAAAAGAAAAAACAGAC	0.45										HNSCC(33;0.089)			A	77617930	-	A	77617929	7	5	104	1	0	1	1	0	0	0	0	0	17632	247	9	0	1608	0	ZFHX4	8	77617929	Frame_Shift_Ins	INS	-	TCGA-BR-8680-01A-11D-2394-08	34	77617929	68746093	3381	69995											
ZFHX4	79776	broad.mit.edu	37	chr8	77763421	77763421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attcccagtatcatgcaattCgggctgcgacaatgtgtaac	9	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:77763421C>T	uc003yav.2	+	10	4516	c.4129C>T	c.(4129-4131)CGG>TGG	p.R1377W	ZFHX4_uc003yau.1_Missense_Mutation_p.R1422W|ZFHX4_uc003yaw.1_Missense_Mutation_p.R1377W	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1377						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCATGCAATTCGGGCTGCGAC	0.458										HNSCC(33;0.089)			T	77763421	C	T	77763421	3	4	104	1	0	0	0	0	1	0	0	0	17632	875	31	1	4298	1	ZFHX4	8	77763421	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	145492	77763421	68600601	3382	69996											
ZFHX4	79776	broad.mit.edu	37	chr8	77764977	77764977	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggcaaaagtggtgaaggCgaaaacactgacaaactaga	12	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:77764977C>T	uc003yav.2	+	10	6072	c.5685C>T	c.(5683-5685)GGC>GGT	p.G1895G	ZFHX4_uc003yau.1_Silent_p.G1940G|ZFHX4_uc003yaw.1_Silent_p.G1895G	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1895						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTGGTGAAGGCGAAAACACTG	0.378										HNSCC(33;0.089)			T	77764977	C	T	77764977	2	4	104	1	0	0	0	0	0	0	0	1	17632	755	27	1		1	ZFHX4	8	77764977	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1556	77764977	68599045	3383	69997											
ZFHX4	79776	broad.mit.edu	37	chr8	77766413	77766413	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccaaagcagagtgacccctCtcccccttctcaaggcacca	7	18	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:77766413C>A	uc003yav.2	+	10	7508	c.7121C>A	c.(7120-7122)TCT>TAT	p.S2374Y	ZFHX4_uc003yau.1_Missense_Mutation_p.S2419Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.S2374Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2374	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGTGACCCCTCTCCCCCTTCT	0.468										HNSCC(33;0.089)			A	77766413	C	A	77766413	3	1	104	1	0	0	0	0	1	0	0	0	17632	913	32	5	7290	5	ZFHX4	8	77766413	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1436	77766413	68597609	3384	69998											
FAM164A	51101	broad.mit.edu	37	chr8	79629691	79629691	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtagaatgggccaaatTttgctgtgaatgtggcattc	11	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:79629691T>C	uc003ybd.2	+	9	1043	c.941T>C	c.(940-942)TTT>TCT	p.F314S		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	hypothetical protein LOC51101	314										ovary(1)	1						TGGGCCAAATTTTGCTGTGAA	0.368													C	79629691	T	C	79629691	3	2	104	1	0	0	0	0	1	0	0	0	5478	1841	64	3	975	3	FAM164A	8	79629691	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1863278	79629691	66734331	3385	69999											
STMN2	11075	broad.mit.edu	37	chr8	80567157	80567157	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagaagagggaacacgagCgagaagtccttcagaaggct	14	8	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:80567157C>T	uc003ybj.2	+	4	391	c.340C>T	c.(340-342)CGA>TGA	p.R114*	STMN2_uc010lzp.2_RNA|STMN2_uc011lfn.1_Intron	NM_007029	NP_008960	Q93045	STMN2_HUMAN	superiorcervical ganglia, neural specific 10	114	Potential.				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			GGAACACGAGCGAGAAGTCCT	0.448													T	80567157	C	T	80567157	4	4	104	1	0	0	0	0	0	1	0	0	15308	760	27	1	354	1	STMN2	8	80567157	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	937466	80567157	65796865	3386	70000											
PAG1	55824	broad.mit.edu	37	chr8	81888912	81888912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgttgagagtctgtatcGcttcataatcaggctctggc	10	10	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:81888912G>A	uc003ybz.2	-	9	1877	c.1166C>T	c.(1165-1167)GCG>GTG	p.A389V		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid	389	Cytoplasmic (Potential).				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity				0	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			AGTCTGTATCGCTTCATAATC	0.512													A	81888912	G	A	81888912	3	1	104	1	0	0	0	0	1	0	0	0	11388	1087	38	1	136	1	PAG1	8	81888912	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1321755	81888912	64475110	3387	70001											
ZFAND1	79752	broad.mit.edu	37	chr8	82615252	82615252	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaagcctggctagagaagcGgcaaagtctatggcctttcc	11	10	1	1	rs142017081	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:82615252G>A	uc003ycj.1	-	7	602	c.588C>T	c.(586-588)GCC>GCT	p.A196A	ZFAND1_uc010lzx.1_Silent_p.A189A|ZFAND1_uc003yck.1_Silent_p.A89A	NM_024699	NP_078975	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	196							zinc ion binding			ovary(1)	1						CTAGAGAAGCGGCAAAGTCTA	0.343													A	82615252	G	A	82615252	2	1	104	1	0	0	0	0	0	0	0	1	17623	1103	39	1		1	ZFAND1	8	82615252	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	726340	82615252	63748770	3388	70002											
SNX16	64089	broad.mit.edu	37	chr8	82752105	82752105	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctaactggcccttagaAgaatttgagcttgttgagac	9	8	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:82752105A>C	uc011lft.1	-	3	624	c.117T>G	c.(115-117)TCT>TCG	p.S39S	SNX16_uc003ycn.2_Silent_p.S39S|SNX16_uc003yco.2_Silent_p.S39S	NM_022133	NP_071416	P57768	SNX16_HUMAN	sorting nexin 16 isoform a	39					cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			ovary(1)|pancreas(1)	2						GGCCCTTAGAAGAATTTGAGC	0.393													C	82752105	A	C	82752105	2	2	104	1	0	0	0	0	0	0	0	1	14887	59	3	5		5	SNX16	8	82752105	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	136853	82752105	63611917	3389	70003											
LRRCC1	85444	broad.mit.edu	37	chr8	86037034	86037034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcattctttacagttgtaatCgtaaaatgaaaccaccttac	4	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:86037034C>T	uc003ycw.2	+	8	1286	c.1132C>T	c.(1132-1134)CGT>TGT	p.R378C	LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_Missense_Mutation_p.R79C|LRRCC1_uc003ycx.2_Missense_Mutation_p.R285C|LRRCC1_uc003ycy.2_Missense_Mutation_p.R358C	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	378					cell division|mitosis	centriole|nucleus					0						CAGTTGTAATCGTAAAATGAA	0.289													T	86037034	C	T	86037034	3	4	104	1	0	0	0	0	1	0	0	0	9026	884	31	1	1162	1	LRRCC1	8	86037034	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3284929	86037034	60326988	3390	70004											
WWP1	11059	broad.mit.edu	37	chr8	87393047	87393047	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaaattacgaaaacagcaAaatccagtagttcttctaat	6	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:87393047A>C	uc003ydt.2	+	4	443	c.163A>C	c.(163-165)AAA>CAA	p.K55Q	WWP1_uc010mai.2_5'UTR	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase	55	C2.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			lung(1)|liver(1)	2						GAAAACAGCAAAATCCAGTAG	0.348													C	87393047	A	C	87393047	3	2	104	1	0	0	0	0	1	0	0	0	17412	15	1	5	169	5	WWP1	8	87393047	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1356013	87393047	58970975	3391	70005											
WWP1	11059	broad.mit.edu	37	chr8	87410844	87410844	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttacatgaaaatggagaGccttcagcaaggacaactgc	10	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:87410844G>A	uc003ydt.2	+	7	796	c.516G>A	c.(514-516)GAG>GAA	p.E172E	WWP1_uc010mai.2_Missense_Mutation_p.S10N	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase	172					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			lung(1)|liver(1)	2						AAAATGGAGAGCCTTCAGCAA	0.328													A	87410844	G	A	87410844	2	1	104	1	0	0	0	0	0	0	0	1	17412	962	34	2		2	WWP1	8	87410844	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	17797	87410844	58953178	3392	70006											
WWP1	11059	broad.mit.edu	37	chr8	87424021	87424021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagttctgcttttgaagcaGccaaatcaagacagccagat	9	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:87424021G>A	uc003ydt.2	+	9	1259	c.979G>A	c.(979-981)GCC>ACC	p.A327T	WWP1_uc010mai.2_Missense_Mutation_p.A103T	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase	327					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			lung(1)|liver(1)	2						TTTTGAAGCAGCCAAATCAAG	0.428													A	87424021	G	A	87424021	3	1	104	1	0	0	0	0	1	0	0	0	17412	971	34	2	1005	2	WWP1	8	87424021	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13177	87424021	58940001	3393	70007											
CPNE3	8895	broad.mit.edu	37	chr8	87541223	87541223	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgaatccccaattttccaaGacatttattattgattacta	3	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:87541223G>T	uc003ydv.2	+	4	345	c.183G>T	c.(181-183)AAG>AAT	p.K61N		NM_003909	NP_003900	O75131	CPNE3_HUMAN	copine III	61	C2 1.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			ovary(1)|skin(1)	2						AATTTTCCAAGACATTTATTA	0.363													T	87541223	G	T	87541223	3	4	104	1	0	0	0	0	1	0	0	0	3813	933	33	5	189	5	CPNE3	8	87541223	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	117202	87541223	58822799	3394	70008											
CNGB3	54714	broad.mit.edu	37	chr8	87641195	87641195	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcataccaagtccgaactcGcttttgcacaagtttaggaa	7	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:87641195G>A	uc003ydx.2	-	12	1478	c.1432C>T	c.(1432-1434)CGA>TGA	p.R478*	CNGB3_uc010maj.2_Nonsense_Mutation_p.R340*	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	478	Extracellular (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						GTCCGAACTCGCTTTTGCACA	0.428													A	87641195	G	A	87641195	4	1	104	1	0	0	0	0	0	1	0	0	3601	1095	38	1	1025	1	CNGB3	8	87641195	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	99972	87641195	58722827	3395	70009											
CNGB3	54714	broad.mit.edu	37	chr8	87656903	87656903	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgatgattaaattcaaaAaatgaagtgtactatataga	8	2	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:87656903A>C	uc003ydx.2	-	9	1048	c.1002T>G	c.(1000-1002)TTT>TTG	p.F334L	CNGB3_uc010maj.2_Missense_Mutation_p.F196L	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	334	Extracellular (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						TAAATTCAAAAAATGAAGTGT	0.259													C	87656903	A	C	87656903	3	2	104	1	0	0	0	0	1	0	0	0	3601	11	1	5	1467	5	CNGB3	8	87656903	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	15708	87656903	58707119	3396	70010											
CNGB3	54714	broad.mit.edu	37	chr8	87679359	87679359	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagccacaggagatagagtcGatctggaaaaacagcaagtg	13	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:87679359G>A	uc003ydx.2	-	6	692	c.646C>T	c.(646-648)CGA>TGA	p.R216*	CNGB3_uc010maj.2_Nonsense_Mutation_p.R78*	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	216	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						AGATAGAGTCGATCTGGAAAA	0.453													A	87679359	G	A	87679359	4	1	104	1	0	0	0	0	0	1	0	0	3601	1066	37	1	1835	1	CNGB3	8	87679359	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	22456	87679359	58684663	3397	70011											
OSGIN2	734	broad.mit.edu	37	chr8	90937584	90937584	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaatcctgtggaaatagatAcatatacctatgagtgtatt	8	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:90937584A>G	uc003yeg.2	+	6	1688	c.1342A>G	c.(1342-1344)ACA>GCA	p.T448A	OSGIN2_uc003yeh.2_Missense_Mutation_p.T492A	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family	448					germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GGAAATAGATACATATACCTA	0.418													G	90937584	A	G	90937584	3	3	104	1	0	0	0	0	1	0	0	0	11290	391	14	3	1496	3	OSGIN2	8	90937584	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	3258225	90937584	55426438	3398	70012											
CALB1	793	broad.mit.edu	37	chr8	91072475	91072475	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatccgacaaagccattaTgttcttcttgtatgttgtaa	6	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:91072475T>C	uc003yel.1	-	11	894	c.712A>G	c.(712-714)ATA>GTA	p.I238V	CALB1_uc011lge.1_Missense_Mutation_p.I181V	NM_004929	NP_004920	P05937	CALB1_HUMAN	calbindin 1	238						nucleus	calcium ion binding|vitamin D binding			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.00953)			AAAGCCATTATGTTCTTCTTG	0.398													C	91072475	T	C	91072475	3	2	104	1	0	0	0	0	1	0	0	0	2573	1464	51	3	77	3	CALB1	8	91072475	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	134891	91072475	55291547	3399	70013											
TMEM67	91147	broad.mit.edu	37	chr8	94807651	94807651	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgcagacagttgtgaaattCttggtgtactatgctggtga	12	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:94807651C>T	uc011lgk.1	+	17	1760	c.1689C>T	c.(1687-1689)TTC>TTT	p.F563F	TMEM67_uc010maw.2_Silent_p.F269F|TMEM67_uc003yga.3_Silent_p.F482F|TMEM67_uc011lgl.1_5'UTR	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	563					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			ovary(2)	2	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTGTGAAATTCTTGGTGTACT	0.353													T	94807651	C	T	94807651	2	4	104	1	0	0	0	0	0	0	0	1	16193	912	32	4		4	TMEM67	8	94807651	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3735176	94807651	51556371	3400	70014											
KIAA1429	25962	broad.mit.edu	37	chr8	95523529	95523529	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacttcttttaacattaaagAccaagtattattggccagag	6	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:95523529A>G	uc003ygo.1	-	13	3287	c.3274T>C	c.(3274-3276)TCT>CCT	p.S1092P	KIAA1429_uc003ygp.2_Missense_Mutation_p.S1092P|KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	1092					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AACATTAAAGACCAAGTATTA	0.353													G	95523529	A	G	95523529	3	3	104	1	0	0	0	0	1	0	0	0	8231	275	10	3	2266	3	KIAA1429	8	95523529	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	715878	95523529	50840493	3401	70015											
DPY19L4	286148	broad.mit.edu	37	chr8	95800258	95800258	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctgtagggttaaagattTattagacattgcaaatggcc	11	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:95800258T>G	uc003ygx.2	+	18	2109	c.1985T>G	c.(1984-1986)TTA>TGA	p.L662*		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	dpy-19-like 4	662						integral to membrane				ovary(2)	2	Breast(36;3.85e-06)					GTTAAAGATTTATTAGACATT	0.284													G	95800258	T	G	95800258	4	3	104	1	0	0	0	0	0	1	0	0	4743	1764	61	5	2055	5	DPY19L4	8	95800258	Nonsense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	276729	95800258	50563764	3402	70016											
GDF6	392255	broad.mit.edu	37	chr8	97172790	97172790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttgccttccttgcggcttCgcatgcccttggtggaaccc	10	15	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:97172790C>T	uc003yhp.2	-	1	231	c.131G>A	c.(130-132)CGA>CAA	p.R44Q		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	44					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					CTTGCGGCTTCGCATGCCCTT	0.657													T	97172790	C	T	97172790	3	4	104	1	0	0	0	0	1	0	0	0	6317	884	31	1	1244	1	GDF6	8	97172790	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1372532	97172790	49191232	3403	70017											
PTDSS1	9791	broad.mit.edu	37	chr8	97299345	97299345	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attggctagatccaaatcttCgatacgccacaagggaagca	9	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:97299345C>T	uc003yht.1	+	4	514	c.412C>T	c.(412-414)CGA>TGA	p.R138*	PTDSS1_uc003yhu.1_Intron	NM_014754	NP_055569	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	138					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			ovary(1)	1	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TCCAAATCTTCGATACGCCAC	0.443													T	97299345	C	T	97299345	4	4	104	1	0	0	0	0	0	1	0	0	12736	876	31	1	426	1	PTDSS1	8	97299345	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	126555	97299345	49064677	3404	70018											
PTDSS1	9791	broad.mit.edu	37	chr8	97345750	97345750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attcttccaggagaaggaatCggcattccaagtcaaaagtc	9	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:97345750C>T	uc003yht.1	+	13	1480	c.1378C>T	c.(1378-1380)CGG>TGG	p.R460W	PTDSS1_uc003yhu.1_Missense_Mutation_p.R314W	NM_014754	NP_055569	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	460					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			ovary(1)	1	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	GAGAAGGAATCGGCATTCCAA	0.488											OREG0018880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	97345750	C	T	97345750	3	4	104	1	0	0	0	0	1	0	0	0	12736	875	31	1	1428	1	PTDSS1	8	97345750	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	46405	97345750	49018272	3405	70019											
POP1	10940	broad.mit.edu	37	chr8	99139972	99139972	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgagggcacgtctcaggagAtccccaagtatataactggt	11	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:99139972A>C	uc003yij.3	+	3	392	c.292A>C	c.(292-294)ATC>CTC	p.I98L	POP1_uc011lgv.1_Missense_Mutation_p.I98L|POP1_uc003yik.2_Missense_Mutation_p.I98L	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	98					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GTCTCAGGAGATCCCCAAGTA	0.483													C	99139972	A	C	99139972	3	2	104	1	0	0	0	0	1	0	0	0	12251	333	12	5	298	5	POP1	8	99139972	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1794222	99139972	47224050	3406	70020											
NIPAL2	79815	broad.mit.edu	37	chr8	99248398	99248398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaccgagtaagtctgaggCtctcaaattgtctttcagaa	8	9	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:99248398C>T	uc003yil.1	-	4	677	c.421G>A	c.(421-423)GCC>ACC	p.A141T	NIPAL2_uc011lgw.1_5'UTR|NIPAL2_uc003yim.1_Missense_Mutation_p.A141T	NM_024759	NP_079035	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	141						integral to membrane					0						AAGTCTGAGGCTCTCAAATTG	0.303													T	99248398	C	T	99248398	3	4	104	1	0	0	0	0	1	0	0	0	10425	797	28	2	721	2	NIPAL2	8	99248398	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	108426	99248398	47115624	3407	70021											
VPS13B	157680	broad.mit.edu	37	chr8	100168882	100168882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaacattcagtgccaatgTatgctgaacagttggtgcat	11	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:100168882T>C	uc003yiv.2	+	15	2230	c.2119T>C	c.(2119-2121)TAT>CAT	p.Y707H	VPS13B_uc003yiw.2_Missense_Mutation_p.Y707H|VPS13B_uc003yit.2_Missense_Mutation_p.Y707H|VPS13B_uc003yiu.1_Missense_Mutation_p.Y707H|VPS13B_uc003yix.1_Missense_Mutation_p.Y178H	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	707					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGTGCCAATGTATGCTGAACA	0.388													C	100168882	T	C	100168882	3	2	104	1	0	0	0	0	1	0	0	0	17187	1638	57	3	2215	3	VPS13B	8	100168882	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	920484	100168882	46195140	3408	70022											
VPS13B	157680	broad.mit.edu	37	chr8	100493895	100493895	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagattcagaagagaggcaaTctcaacctatctccaacctc	6	12	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:100493895T>C	uc003yiv.2	+	25	3846	c.3735T>C	c.(3733-3735)AAT>AAC	p.N1245N	VPS13B_uc003yiw.2_Silent_p.N1245N|VPS13B_uc003yiu.1_Silent_p.N1245N|VPS13B_uc003yix.1_Silent_p.N715N	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1245					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGAGAGGCAATCTCAACCTAT	0.438													C	100493895	T	C	100493895	2	2	104	1	0	0	0	0	0	0	0	1	17187	1432	50	3		3	VPS13B	8	100493895	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	325013	100493895	45870127	3409	70023											
VPS13B	157680	broad.mit.edu	37	chr8	100568703	100568703	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttgaacttaggaattcttCgagatcctggatcagaaatc	8	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:100568703C>T	uc003yiv.2	+	31	4957	c.4846C>T	c.(4846-4848)CGA>TGA	p.R1616*	VPS13B_uc003yiw.2_Nonsense_Mutation_p.R1591*	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1616					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGGAATTCTTCGAGATCCTGG	0.358													T	100568703	C	T	100568703	4	4	104	1	0	0	0	0	0	1	0	0	17187	876	31	1	5158	1	VPS13B	8	100568703	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	74808	100568703	45795319	3410	70024											
RGS22	26166	broad.mit.edu	37	chr8	101016202	101016202	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgttcaaactccagtTtgttgttaagcagatcacta	8	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:101016202T>G	uc003yjb.1	-	17	2774	c.2579A>C	c.(2578-2580)AAA>ACA	p.K860T	RGS22_uc003yja.1_Missense_Mutation_p.K679T|RGS22_uc003yjc.1_Missense_Mutation_p.K848T|RGS22_uc011lgz.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	860	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AAACTCCAGTTTGTTGTTAAG	0.353													G	101016202	T	G	101016202	3	3	104	1	0	0	0	0	1	0	0	0	13305	1841	64	5	1259	5	RGS22	8	101016202	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	447499	101016202	45347820	3411	70025											
SPAG1	6674	broad.mit.edu	37	chr8	101174630	101174630	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgttaaacatctggaaaAaattctttgcgtgctcaggt	9	6	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:101174630A>C	uc003yjh.1	+	2	208	c.122A>C	c.(121-123)AAA>ACA	p.K41T	SPAG1_uc003yjg.1_Missense_Mutation_p.K41T|SPAG1_uc003yji.1_Missense_Mutation_p.K41T	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	41					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)		CATCTGGAAAAAATTCTTTGC	0.299													C	101174630	A	C	101174630	3	2	104	1	0	0	0	0	1	0	0	0	14975	14	1	5	124	5	SPAG1	8	101174630	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	158428	101174630	45189392	3412	70026											
SPAG1	6674	broad.mit.edu	37	chr8	101178199	101178199	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaattgatggtgatataAaggtatatagtaataccaat	7	2	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:101178199A>C	uc003yjh.1	+	3	384	c.298A>C	c.(298-300)AAG>CAG	p.K100Q	SPAG1_uc003yjg.1_Missense_Mutation_p.K100Q|SPAG1_uc003yji.1_Missense_Mutation_p.K100Q	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	100					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)		TGGTGATATAAAGGTATATAG	0.373													C	101178199	A	C	101178199	3	2	104	1	0	0	0	0	1	0	0	0	14975	15	1	5	304	5	SPAG1	8	101178199	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	3569	101178199	45185823	3413	70027											
SPAG1	6674	broad.mit.edu	37	chr8	101196205	101196205	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgacgtggagaaggaatgTttaaaaattgatgaagatta	11	1	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:101196205T>C	uc003yjh.1	+	6	596	c.510T>C	c.(508-510)TGT>TGC	p.C170C	SPAG1_uc003yjg.1_Silent_p.C170C|SPAG1_uc003yji.1_Silent_p.C170C	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	170					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)		AGAAGGAATGTTTAAAAATTG	0.274													C	101196205	T	C	101196205	2	2	104	1	0	0	0	0	0	0	0	1	14975	1731	60	3		3	SPAG1	8	101196205	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	18006	101196205	45167817	3414	70028											
SPAG1	6674	broad.mit.edu	37	chr8	101243400	101243400	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atagatgaaaaaacatttaaAgcccttaaggaagaaggaaa	8	4	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:101243400A>C	uc003yjh.1	+	15	1958	c.1872A>C	c.(1870-1872)AAA>AAC	p.K624N	SPAG1_uc003yji.1_Missense_Mutation_p.K624N	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	624	TPR 7.				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)		AAACATTTAAAGCCCTTAAGG	0.313													C	101243400	A	C	101243400	3	2	104	1	0	0	0	0	1	0	0	0	14975	69	3	5	1926	5	SPAG1	8	101243400	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	47195	101243400	45120622	3415	70029											
ANKRD46	157567	broad.mit.edu	37	chr8	101540171	101540171	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaagattccagcaatcggatGacatctttatttactcctct	5	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:101540171G>T	uc003yjm.2	-	4	576	c.372C>A	c.(370-372)GTC>GTA	p.V124V	ANKRD46_uc003yjn.1_Silent_p.V124V|ANKRD46_uc003yjo.1_Silent_p.V124V|ANKRD46_uc003yjp.1_Silent_p.V124V	NM_198401	NP_940683	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	124	ANK 4.					integral to membrane					0	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			GCAATCGGATGACATCTTTAT	0.378													T	101540171	G	T	101540171	2	4	104	1	0	0	0	0	0	0	0	1	674	1277	45	5		5	ANKRD46	8	101540171	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	296771	101540171	44823851	3416	70030											
UBR5	51366	broad.mit.edu	37	chr8	103357626	103357626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaataaatgcaaaattacctCgagatgagcctagcctggaa	8	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:103357626C>T	uc003ykr.1	-	8	917	c.884G>A	c.(883-885)CGA>CAA	p.R295Q	UBR5_uc003yks.1_Missense_Mutation_p.R295Q	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	295					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AAAATTACCTCGAGATGAGCC	0.353													T	103357626	C	T	103357626	3	4	104	1	0	0	0	0	1	0	0	0	16902	884	31	1	7723	1	UBR5	8	103357626	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1817455	103357626	43006396	3417	70031											
ODF1	4956	broad.mit.edu	37	chr8	103572953	103572953	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcggcagctgtgtcaagatCgagtctccttgctacccttg	10	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:103572953C>T	uc003ykt.2	+	2	702	c.594C>T	c.(592-594)ATC>ATT	p.I198I		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	198					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			ovary(2)	2	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GTGTCAAGATCGAGTCTCCTT	0.338													T	103572953	C	T	103572953	2	4	104	1	0	0	0	0	0	0	0	1	10826	874	31	1		1	ODF1	8	103572953	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	215327	103572953	42791069	3418	70032											
RIMS2	9699	broad.mit.edu	37	chr8	104897838	104897838	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcacgctaccgaagtgatccGaatttggcccgttatccagt	9	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:104897838G>A	uc003yls.2	+	2	586	c.345G>A	c.(343-345)CCG>CCA	p.P115P	RIMS2_uc003ylp.2_Silent_p.P337P|RIMS2_uc003ylw.2_Silent_p.P145P|RIMS2_uc003ylq.2_Silent_p.P145P|RIMS2_uc003ylr.2_Silent_p.P145P	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	368					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAAGTGATCCGAATTTGGCCC	0.468										HNSCC(12;0.0054)			A	104897838	G	A	104897838	2	1	104	1	0	0	0	0	0	0	0	1	13368	1045	37	1		1	RIMS2	8	104897838	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1324885	104897838	41466184	3419	70033											
RIMS2	9699	broad.mit.edu	37	chr8	105105866	105105866	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcccaggaggaaacaagaaAatcaggtaaggggatttcaa	12	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:105105866A>C	uc003yls.2	+	21	3130	c.2889A>C	c.(2887-2889)AAA>AAC	p.K963N	RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.K1036N|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAAACAAGAAAATCAGGTAAG	0.373										HNSCC(12;0.0054)			C	105105866	A	C	105105866	3	2	104	1	0	0	0	0	1	0	0	0	13368	29	1	5		5	RIMS2	8	105105866	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	208028	105105866	41258156	3420	70034											
RIMS2	9699	broad.mit.edu	37	chr8	105261818	105261818	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttccaagacactgccaggTaaaaacaaaagagatttttc	8	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:105261818T>C	uc003yls.2	+	26	3986	c.3745_splice	c.e26+2	p.A1249_splice	RIMS2_uc003ylp.2_Splice_Site_p.A1231_splice|RIMS2_uc003ylw.2_Splice_Site_p.A1238_splice|RIMS2_uc003ylq.2_Splice_Site_p.A1045_splice|RIMS2_uc003ylr.2_Splice_Site_p.A1070_splice	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2						intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CACTGCCAGGTAAAAACAAAA	0.378										HNSCC(12;0.0054)			C	105261818	T	C	105261818	5	2	104	1	0	0	0	0	0	0	1	0	13368	1652	57	3	3975	3	RIMS2	8	105261818	Splice_Site	SNP	T	TCGA-BR-8680-01A-11D-2394-08	155952	105261818	41102204	3421	70035											
RIMS2	9699	broad.mit.edu	37	chr8	105263353	105263353	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacccctttaccagcagctaTtatctttcgaagagagtcca	6	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:105263353T>G	uc003yls.2	+	27	4088	c.3847T>G	c.(3847-3849)TTA>GTA	p.L1283V	RIMS2_uc003ylp.2_Missense_Mutation_p.L1265V|RIMS2_uc003ylw.2_Missense_Mutation_p.L1272V|RIMS2_uc003ylq.2_Missense_Mutation_p.L1079V|RIMS2_uc003ylr.2_Missense_Mutation_p.L1104V	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1327	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCAGCAGCTATTATCTTTCGA	0.363										HNSCC(12;0.0054)			G	105263353	T	G	105263353	3	3	104	1	0	0	0	0	1	0	0	0	13368	1490	52	5	4079	5	RIMS2	8	105263353	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1535	105263353	41100669	3422	70036											
LRP12	29967	broad.mit.edu	37	chr8	105503537	105503537	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatcatcagactccacggaAaacaaacttctgtgagtatg	8	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:105503537A>C	uc003yma.2	-	7	2039	c.1944T>G	c.(1942-1944)TTT>TTG	p.F648L	LRP12_uc003ymb.2_Missense_Mutation_p.F629L|LRP12_uc003ylz.2_Missense_Mutation_p.F54L	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	648	Cytoplasmic (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ACTCCACGGAAAACAAACTTC	0.478													C	105503537	A	C	105503537	3	2	104	1	0	0	0	0	1	0	0	0	8954	11	1	5	639	5	LRP12	8	105503537	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	240184	105503537	40860485	3423	70037											
ANGPT1	284	broad.mit.edu	37	chr8	108359229	108359229	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctgagagaggaggctggTtcctatctccagcatggtag	14	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:108359229T>C	uc003ymn.2	-	2	862	c.394A>G	c.(394-396)ACC>GCC	p.T132A	ANGPT1_uc003ymo.2_Missense_Mutation_p.T132A	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	132					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AGGAGGCTGGTTCCTATCTCC	0.512													C	108359229	T	C	108359229	3	2	104	1	0	0	0	0	1	0	0	0	610	1725	60	3	1134	3	ANGPT1	8	108359229	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2855692	108359229	38004793	3424	70038											
ANGPT1	284	broad.mit.edu	37	chr8	108359247	108359247	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttcctatctccagcatggTagccgtgtggttctgaactg	12	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:108359247T>C	uc003ymn.2	-	2	844	c.376A>G	c.(376-378)ACC>GCC	p.T126A	ANGPT1_uc003ymo.2_Missense_Mutation_p.T126A	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	126					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TCCAGCATGGTAGCCGTGTGG	0.498													C	108359247	T	C	108359247	3	2	104	1	0	0	0	0	1	0	0	0	610	1638	57	3	1152	3	ANGPT1	8	108359247	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	18	108359247	38004775	3425	70039											
ANGPT1	284	broad.mit.edu	37	chr8	108509744	108509744	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgctgcaccctatgtgagTcagaatggcagcgaggaaag	13	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:108509744T>C	uc003ymn.2	-	1	511	c.43A>G	c.(43-45)ACT>GCT	p.T15A	ANGPT1_uc003ymo.2_Missense_Mutation_p.T15A	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	15					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CCTATGTGAGTCAGAATGGCA	0.488													C	108509744	T	C	108509744	3	2	104	1	0	0	0	0	1	0	0	0	610	1667	58	3	1489	3	ANGPT1	8	108509744	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	150497	108509744	37854278	3426	70040											
NUDCD1	84955	broad.mit.edu	37	chr8	110255496	110255496	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taatttggagcacaggcaaaAaattttttgtctctctttga	7	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:110255496A>C	uc003ynb.3	-	10	1605	c.1494T>G	c.(1492-1494)TTT>TTG	p.F498L	NUDCD1_uc003yna.2_Missense_Mutation_p.F469L|NUDCD1_uc010mcl.2_Missense_Mutation_p.F411L	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	NudC domain containing 1 isoform 1	498										ovary(1)|breast(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CACAGGCAAAAAATTTTTTGT	0.393													C	110255496	A	C	110255496	3	2	104	1	0	0	0	0	1	0	0	0	10722	11	1	5	261	5	NUDCD1	8	110255496	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1745752	110255496	36108526	3427	70041											
PKHD1L1	93035	broad.mit.edu	37	chr8	110448648	110448648	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgaaacctgcaatgtgaTtgaaggggatttgaatagga	12	3	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:110448648T>G	uc003yne.2	+	30	3691	c.3587T>G	c.(3586-3588)ATT>AGT	p.I1196S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1196	Extracellular (Potential).|IPT/TIG 5.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGCAATGTGATTGAAGGGGAT	0.358										HNSCC(38;0.096)			G	110448648	T	G	110448648	3	3	104	1	0	0	0	0	1	0	0	0	11972	1493	52	5	3705	5	PKHD1L1	8	110448648	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	193152	110448648	35915374	3428	70042											
PKHD1L1	93035	broad.mit.edu	37	chr8	110477432	110477432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaggctggctttcgctggGaacatgaaatggtaatgatt	12	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:110477432G>A	uc003yne.2	+	49	8475	c.8371G>A	c.(8371-8373)GAA>AAA	p.E2791K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2791	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTTTCGCTGGGAACATGAAAT	0.383										HNSCC(38;0.096)			A	110477432	G	A	110477432	3	1	104	1	0	0	0	0	1	0	0	0	11972	1175	41	4	8565	4	PKHD1L1	8	110477432	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	28784	110477432	35886590	3429	70043											
PKHD1L1	93035	broad.mit.edu	37	chr8	110534550	110534550	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccctccccagcccaagtgActctgggtggattaaggtaa	10	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:110534550A>G	uc003yne.2	+	74	12271	c.12167A>G	c.(12166-12168)GAC>GGC	p.D4056G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	4056	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGCCCAAGTGACTCTGGGTGG	0.348										HNSCC(38;0.096)			G	110534550	A	G	110534550	3	3	104	1	0	0	0	0	1	0	0	0	11972	275	10	3	12461	3	PKHD1L1	8	110534550	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	57118	110534550	35829472	3430	70044											
SYBU	55638	broad.mit.edu	37	chr8	110590245	110590245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacatgtaccttccagaacGcctgaaacaatccaagtaat	6	11	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:110590245G>A	uc003ynj.3	-	6	899	c.736C>T	c.(736-738)CGT>TGT	p.R246C	SYBU_uc003yni.3_Missense_Mutation_p.R243C|SYBU_uc003ynk.3_Missense_Mutation_p.R127C|SYBU_uc010mco.2_Missense_Mutation_p.R245C|SYBU_uc003ynl.3_Missense_Mutation_p.R245C|SYBU_uc010mcp.2_Missense_Mutation_p.R246C|SYBU_uc010mcq.2_Missense_Mutation_p.R246C|SYBU_uc003yno.3_Missense_Mutation_p.R127C|SYBU_uc010mcr.2_Missense_Mutation_p.R246C|SYBU_uc003ynm.3_Missense_Mutation_p.R245C|SYBU_uc003ynn.3_Missense_Mutation_p.R245C|SYBU_uc010mcs.2_Missense_Mutation_p.R127C|SYBU_uc010mct.2_Missense_Mutation_p.R246C|SYBU_uc010mcu.2_Missense_Mutation_p.R245C|SYBU_uc003ynp.3_Missense_Mutation_p.R178C|SYBU_uc010mcv.2_Missense_Mutation_p.R246C|SYBU_uc003ynh.3_Missense_Mutation_p.R40C|SYBU_uc011lhw.1_Missense_Mutation_p.R116C	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	246	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						CTTCCAGAACGCCTGAAACAA	0.373													A	110590245	G	A	110590245	3	1	104	1	0	0	0	0	1	0	0	0	15424	1101	38	1	1263	1	SYBU	8	110590245	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	55695	110590245	35773777	3431	70045											
CSMD3	114788	broad.mit.edu	37	chr8	113516067	113516067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actaacagatccatcactccGaaaagccaaatgcattgtat	5	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:113516067G>A	uc003ynu.2	-	30	5194	c.5035C>T	c.(5035-5037)CGG>TGG	p.R1679W	CSMD3_uc003yns.2_Missense_Mutation_p.R951W|CSMD3_uc003ynt.2_Missense_Mutation_p.R1639W|CSMD3_uc011lhx.1_Missense_Mutation_p.R1575W	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1679	Extracellular (Potential).|CUB 9.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCATCACTCCGAAAAGCCAAA	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113516067	G	A	113516067	3	1	104	1	0	0	0	0	1	0	0	0	3946	1057	37	1	6256	1	CSMD3	8	113516067	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2925822	113516067	32847955	3432	70046											
CSMD3	114788	broad.mit.edu	37	chr8	113933929	113933929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaggtgatgctctttgcGccctgtaggacataatcttc	10	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:113933929G>A	uc003ynu.2	-	10	1719	c.1560C>T	c.(1558-1560)GGC>GGT	p.G520G	CSMD3_uc003ynt.2_Silent_p.G480G|CSMD3_uc011lhx.1_Silent_p.G416G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	520	Extracellular (Potential).|Sushi 2.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TGCTCTTTGCGCCCTGTAGGA	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113933929	G	A	113933929	2	1	104	1	0	0	0	0	0	0	0	1	3946	1074	38	1		1	CSMD3	8	113933929	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	417862	113933929	32430093	3433	70047											
CSMD3	114788	broad.mit.edu	37	chr8	114186077	114186077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggatcttgtccccgacgtCgaatcttgtgccatataata	9	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:114186077C>T	uc003ynu.2	-	4	742	c.583G>A	c.(583-585)GAC>AAC	p.D195N	CSMD3_uc003ynt.2_Missense_Mutation_p.D155N|CSMD3_uc011lhx.1_Missense_Mutation_p.D195N|CSMD3_uc010mcx.1_Missense_Mutation_p.D195N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	195	Extracellular (Potential).|Sushi 1.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TCCCCGACGTCGAATCTTGTG	0.458										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	114186077	C	T	114186077	3	4	104	1	0	0	0	0	1	0	0	0	3946	884	31	1	10812	1	CSMD3	8	114186077	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	252148	114186077	32177945	3434	70048											
TRPS1	7227	broad.mit.edu	37	chr8	116631976	116631976	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catatttctgtctgtcacctCatcatgcggaaaggagggaa	10	9	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:116631976C>A	uc003ynz.2	-	2	769	c.310G>T	c.(310-312)GAG>TAG	p.E104*	TRPS1_uc011lhy.1_Nonsense_Mutation_p.E108*|TRPS1_uc003yny.2_Nonsense_Mutation_p.E117*|TRPS1_uc010mcy.2_Nonsense_Mutation_p.E104*	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	104					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCTGTCACCTCATCATGCGGA	0.502									Langer-Giedion_syndrome				A	116631976	C	A	116631976	4	1	104	1	0	0	0	0	0	1	0	0	16590	835	29	5	3555	5	TRPS1	8	116631976	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2445899	116631976	29732046	3435	70049											
SLC30A8	169026	broad.mit.edu	37	chr8	118159295	118159295	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgccacagtggctccaaGcccacagaaaagggggcgaa	12	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:118159295G>A	uc003yoh.2	+	2	404	c.174G>A	c.(172-174)AAG>AAA	p.K58K	SLC30A8_uc010mcz.2_Silent_p.K9K|SLC30A8_uc011lia.1_Silent_p.K9K|SLC30A8_uc003yog.2_Silent_p.K9K	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	58	Cytoplasmic (Potential).				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			ovary(2)|skin(2)	4	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GTGGCTCCAAGCCCACAGAAA	0.512													A	118159295	G	A	118159295	2	1	104	1	0	0	0	0	0	0	0	1	14561	962	34	2		2	SLC30A8	8	118159295	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1527319	118159295	28204727	3436	70050											
EXT1	2131	broad.mit.edu	37	chr8	118834767	118834767	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atactgtggtagtacgaacaAtcctccaggatgtttgttcc	9	9	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:118834767A>C	uc003yok.1	-	5	2127	c.1354T>G	c.(1354-1356)TTG>GTG	p.L452V		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	452	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AGTACGAACAATCCTCCAGGA	0.368			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				C	118834767	A	C	118834767	3	2	104	1	0	0	0	0	1	0	0	0	5323	98	4	5	914	5	EXT1	8	118834767	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	675472	118834767	27529255	3437	70051											
EXT1	2131	broad.mit.edu	37	chr8	118834821	118834821	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtgatatgtgcttgaataTtctgtcctgaataatctaga	8	6	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:118834821T>G	uc003yok.1	-	5	2073	c.1300A>C	c.(1300-1302)ATA>CTA	p.I434L		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	434	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGCTTGAATATTCTGTCCTGA	0.358			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				G	118834821	T	G	118834821	3	3	104	1	0	0	0	0	1	0	0	0	5323	1493	52	5	968	5	EXT1	8	118834821	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	54	118834821	27529201	3438	70052											
EXT1	2131	broad.mit.edu	37	chr8	119123272	119123272	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcaggatgaaatagcgtTttttggcctgcatgtgtcct	12	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:119123272T>G	uc003yok.1	-	1	787	c.14A>C	c.(13-15)AAA>ACA	p.K5T		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	5	Cytoplasmic (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GAAATAGCGTTTTTTGGCCTG	0.493			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				G	119123272	T	G	119123272	3	3	104	1	0	0	0	0	1	0	0	0	5323	1841	64	5	2270	5	EXT1	8	119123272	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	288451	119123272	27240750	3439	70053											
DSCC1	79075	broad.mit.edu	37	chr8	120865430	120865430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgcacagcacagcttgctCgtctttatcaccacgaatca	6	14	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:120865430C>T	uc003yov.2	-	2	343	c.208G>A	c.(208-210)GAG>AAG	p.E70K		NM_024094	NP_076999	Q9BVC3	DCC1_HUMAN	defective in sister chromatid cohesion 1	70					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			pancreas(1)	1	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACAGCTTGCTCGTCTTTATCA	0.383													T	120865430	C	T	120865430	3	4	104	1	0	0	0	0	1	0	0	0	4770	893	31	1	1005	1	DSCC1	8	120865430	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1742158	120865430	25498592	3440	70054											
COL14A1	7373	broad.mit.edu	37	chr8	121210070	121210070	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcttgcacagtatagtggtGaccccagaatagaatggcac	11	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:121210070G>A	uc003yox.2	+	7	878	c.613G>A	c.(613-615)GAC>AAC	p.D205N	COL14A1_uc003yoy.2_5'UTR|COL14A1_uc010mde.1_Intron	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	205	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GTATAGTGGTGACCCCAGAAT	0.408													A	121210070	G	A	121210070	3	1	104	1	0	0	0	0	1	0	0	0	3671	1290	45	4	635	4	COL14A1	8	121210070	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	344640	121210070	25153952	3441	70055											
COL14A1	7373	broad.mit.edu	37	chr8	121216025	121216025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcatgtgtacaatgttgccGaattcgatctgatgcacaca	8	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:121216025G>A	uc003yox.2	+	9	1220	c.955G>A	c.(955-957)GAA>AAA	p.E319K	COL14A1_uc003yoy.2_5'UTR|COL14A1_uc010mde.1_5'UTR	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	319	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAATGTTGCCGAATTCGATCT	0.468													A	121216025	G	A	121216025	3	1	104	1	0	0	0	0	1	0	0	0	3671	1059	37	1	985	1	COL14A1	8	121216025	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5955	121216025	25147997	3442	70056											
COL14A1	7373	broad.mit.edu	37	chr8	121296018	121296018	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttggggttattttagacaGtaagtatatttattgagatc	11	2	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:121296018G>A	uc003yox.2	+	32	4232	c.3967_splice	c.e32+1	p.N1323_splice	COL14A1_uc003yoz.2_Splice_Site_p.N288_splice	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor						cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATTTTAGACAGTAAGTATATT	0.353													A	121296018	G	A	121296018	5	1	104	1	0	0	0	0	0	0	1	0	3671	1043	36	4	4090	4	COL14A1	8	121296018	Splice_Site	SNP	G	TCGA-BR-8680-01A-11D-2394-08	79993	121296018	25068004	3443	70057											
SNTB1	6641	broad.mit.edu	37	chr8	121823712	121823712	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgccccccttgatgctgatCcccagcccgcccagctcctg	8	20	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:121823712C>T	uc010mdg.2	-	1	598	c.372G>A	c.(370-372)GGG>GGA	p.G124G	SNTB1_uc003ype.2_Silent_p.G124G	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	124	PH 1.|PDZ.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			skin(5)	5	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TGATGCTGATCCCCAGCCCGC	0.637													T	121823712	C	T	121823712	2	4	104	1	0	0	0	0	0	0	0	1	14872	842	30	4		4	SNTB1	8	121823712	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	527694	121823712	24540310	3444	70058											
SNTB1	6641	broad.mit.edu	37	chr8	121823882	121823882	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccccggcgcccctgcagaAcgagccattggtggcggtcc	14	16	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:121823882A>G	uc010mdg.2	-	1	428	c.202T>C	c.(202-204)TTC>CTC	p.F68L	SNTB1_uc003ype.2_Missense_Mutation_p.F68L	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	68	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			skin(5)	5	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			ccccTGCAGAACGAGCCATTG	0.438													G	121823882	A	G	121823882	3	3	104	1	0	0	0	0	1	0	0	0	14872	43	2	3	1442	3	SNTB1	8	121823882	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	170	121823882	24540140	3445	70059											
ZHX2	22882	broad.mit.edu	37	chr8	123964589	123964589	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaatgccacgatgatcaactCtttcaacaagtttccttacc	4	12	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:123964589C>A	uc003ypk.1	+	3	1406	c.839C>A	c.(838-840)TCT>TAT	p.S280Y		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	280	Required for interaction with NFYA.|Required for homodimerization.|Required for repressor activity.|Homeobox 1.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			ATGATCAACTCTTTCAACAAG	0.507													A	123964589	C	A	123964589	3	1	104	1	0	0	0	0	1	0	0	0	17673	913	32	5	841	5	ZHX2	8	123964589	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2140707	123964589	22399433	3446	70060											
DERL1	79139	broad.mit.edu	37	chr8	124027820	124027820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctactgggcagccagCggtacctggtgcagaaagac	12	13	1	2	rs141975370	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:124027820C>T	uc003ypl.2	-	8	909	c.623G>A	c.(622-624)CGC>CAC	p.R208H	DERL1_uc003ypm.2_Missense_Mutation_p.R188H|DERL1_uc011lif.1_Missense_Mutation_p.R108H|DERL1_uc003ypn.2_3'UTR	NM_024295	NP_077271	Q9BUN8	DERL1_HUMAN	Der1-like domain family, member 1 isoform a	208	Cytoplasmic (Potential).				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity				0	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GGGCAGCCAGCGGTACCTGGT	0.562													T	124027820	C	T	124027820	3	4	104	1	0	0	0	0	1	0	0	0	4446	768	27	1	136	1	DERL1	8	124027820	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	63231	124027820	22336202	3447	70061											
WDR67	93594	broad.mit.edu	37	chr8	124096519	124096519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatacagcacaattatgggActtggatacctttcagagaa	9	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:124096519A>G	uc003ypp.1	+	4	548	c.458A>G	c.(457-459)GAC>GGC	p.D153G	WDR67_uc011lig.1_Missense_Mutation_p.D153G|WDR67_uc011lih.1_Missense_Mutation_p.D43G|WDR67_uc003ypq.1_RNA|WDR67_uc003ypo.1_Missense_Mutation_p.D153G	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	153	WD 2.					centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CAATTATGGGACTTGGATACC	0.438													G	124096519	A	G	124096519	3	3	104	1	0	0	0	0	1	0	0	0	17315	275	10	3	472	3	WDR67	8	124096519	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	68699	124096519	22267503	3448	70062											
FBXO32	114907	broad.mit.edu	37	chr8	124546990	124546990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccttctttctcttcttggCtgcaacatcatagttcaggc	7	12	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:124546990C>T	uc003yqr.2	-	2	373	c.181G>A	c.(181-183)GCC>ACC	p.A61T	FBXO32_uc003yqq.2_5'Flank|FBXO32_uc010mdk.2_Missense_Mutation_p.A61T	NM_058229	NP_478136	Q969P5	FBX32_HUMAN	F-box only protein 32 isoform 1	61										skin(3)|breast(2)|lung(1)	6	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTCTTCTTGGCTGCAACATCA	0.363													T	124546990	C	T	124546990	3	4	104	1	0	0	0	0	1	0	0	0	5742	797	28	2	918	2	FBXO32	8	124546990	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	450471	124546990	21817032	3449	70063											
FAM91A1	157769	broad.mit.edu	37	chr8	124811872	124811872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtccaaaggtacaagacttcGaaaactgccagatatatttc	7	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:124811872G>A	uc003yqv.2	+	17	1734	c.1673G>A	c.(1672-1674)CGA>CAA	p.R558Q	FAM91A1_uc011lik.1_Missense_Mutation_p.R558Q|FAM91A1_uc011lil.1_Missense_Mutation_p.R316Q	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	558										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			ACAAGACTTCGAAAACTGCCA	0.388													A	124811872	G	A	124811872	3	1	104	1	0	0	0	0	1	0	0	0	5651	1058	37	1	1739	1	FAM91A1	8	124811872	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	264882	124811872	21552150	3450	70064											
FER1L6	654463	broad.mit.edu	37	chr8	125113491	125113491	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accaagagggagaacatcttCtctttagagaagatggagtg	12	6	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:125113491C>A	uc003yqw.2	+	38	5243	c.5037C>A	c.(5035-5037)TTC>TTA	p.F1679L	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1679	C2 6.|Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGAACATCTTCTCTTTAGAGA	0.498													A	125113491	C	A	125113491	3	1	104	1	0	0	0	0	1	0	0	0	5815	912	32	5	5183	5	FER1L6	8	125113491	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	301619	125113491	21250531	3451	70065											
TRMT12	55039	broad.mit.edu	37	chr8	125464172	125464172	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaggcattttgcataTccaccaaaatgtggaatctt	9	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:125464172T>C	uc003yra.3	+	1	1125	c.1004T>C	c.(1003-1005)ATC>ACC	p.I335T		NM_017956	NP_060426	Q53H54	TYW2_HUMAN	homolog of yeast tRNA methyltransferase 12	335					tRNA processing		methyltransferase activity			upper_aerodigestive_tract(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ATTTTGCATATCCACCAAAAT	0.493													C	125464172	T	C	125464172	3	2	104	1	0	0	0	0	1	0	0	0	16561	1435	50	3	1006	3	TRMT12	8	125464172	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	350681	125464172	20899850	3452	70066											
NSMCE2	286053	broad.mit.edu	37	chr8	126194403	126194403	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attattggtagagaagaaatTtttggctttacagagcaaga	10	3	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:126194403T>G	uc003yrw.2	+	5	551	c.323T>G	c.(322-324)TTT>TGT	p.F108C	NSMCE2_uc003yrv.2_Missense_Mutation_p.F108C	NM_173685	NP_775956	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog	108				F -> L (in Ref. 1; BAB71338).	DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)	1	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			GAGAAGAAATTTTTGGCTTTA	0.299													G	126194403	T	G	126194403	3	3	104	1	0	0	0	0	1	0	0	0	10676	1841	64	5	333	5	NSMCE2	8	126194403	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	730231	126194403	20169619	3453	70067											
ASAP1	50807	broad.mit.edu	37	chr8	131073177	131073177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaatttggggcttggggGccagttctgtgggctttggg	17	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:131073177G>A	uc003yta.1	-	27	2868	c.2840C>T	c.(2839-2841)GCC>GTC	p.A947V	ASAP1_uc003ysz.1_Missense_Mutation_p.A758V|ASAP1_uc011liw.1_Missense_Mutation_p.A940V	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	947	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						GGGCTTGGGGGCCAGTTCTGT	0.577													A	131073177	G	A	131073177	3	1	104	1	0	0	0	0	1	0	0	0	1010	1203	42	2	561	2	ASAP1	8	131073177	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4878774	131073177	15290845	3454	70068											
EFR3A	23167	broad.mit.edu	37	chr8	132989322	132989322	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagaattcagataatgttgCtgagatctttgcttatggta	11	4	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:132989322C>A	uc003yte.2	+	12	1510	c.1309C>A	c.(1309-1311)CTG>ATG	p.L437M		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A	437						plasma membrane	binding			ovary(3)|breast(1)|central_nervous_system(1)	5	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GATAATGTTGCTGAGATCTTT	0.294													A	132989322	C	A	132989322	3	1	104	1	0	0	0	0	1	0	0	0	4958	796	28	5	1355	5	EFR3A	8	132989322	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1916145	132989322	13374700	3455	70069											
TG	7038	broad.mit.edu	37	chr8	133961170	133961170	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggtgatattgcgtcttggaGaccaggagttcatcaagagt	13	6	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:133961170G>T	uc003ytw.2	+	27	5424	c.5383G>T	c.(5383-5385)GAC>TAC	p.D1795Y	TG_uc010mdw.2_Missense_Mutation_p.D554Y|TG_uc011ljb.1_Missense_Mutation_p.D164Y	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1795	Type IIIB.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCGTCTTGGAGACCAGGAGTT	0.468													T	133961170	G	T	133961170	3	4	104	1	0	0	0	0	1	0	0	0	15810	942	33	5	5489	5	TG	8	133961170	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	971848	133961170	12402852	3456	70070											
SLA	6503	broad.mit.edu	37	chr8	134063099	134063099	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctcccctcggcggaatatCggggggctgatgtcaggaga	15	10	2	2	rs143198289		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:134063099C>T	uc003ytz.2	-	4	955	c.123G>A	c.(121-123)CCG>CCA	p.P41P	TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Silent_p.P58P|SLA_uc011ljf.1_5'UTR|SLA_uc011ljg.1_Silent_p.P58P|SLA_uc010mdy.1_Silent_p.P41P|SLA_uc010mdz.1_Silent_p.P41P|SLA_uc010mea.2_RNA|SLA_uc011ljd.1_Silent_p.P81P	NM_001045556	NP_001039021	Q13239	SLAP1_HUMAN	Src-like-adaptor isoform a	41	SH3.					endosome	SH3/SH2 adaptor activity			lung(1)|liver(1)	2	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			GGCGGAATATCGGGGGGCTGA	0.527													T	134063099	C	T	134063099	2	4	104	1	0	0	0	0	0	0	0	1	14363	871	31	1		1	SLA	8	134063099	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	101929	134063099	12300923	3457	70071											
ST3GAL1	6482	broad.mit.edu	37	chr8	134474127	134474127	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggtggcatacctcatcgcaGacatgcattgagaagatgac	12	9	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:134474127G>T	uc003yuk.2	-	9	1669	c.840C>A	c.(838-840)GTC>GTA	p.V280V	ST3GAL1_uc003yum.2_Silent_p.V280V	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	280	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CCTCATCGCAGACATGCATTG	0.597													T	134474127	G	T	134474127	2	4	104	1	0	0	0	0	0	0	0	1	15213	929	33	5		5	ST3GAL1	8	134474127	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	411028	134474127	11889895	3458	70072											
FAM135B	51059	broad.mit.edu	37	chr8	139163661	139163661	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggctgtccagagtaaaGgtctctgcagaagtcagatg	12	8	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:139163661G>A	uc003yuy.2	-	13	3228	c.3057C>T	c.(3055-3057)ACC>ACT	p.T1019T	FAM135B_uc003yux.2_Silent_p.T920T|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.T581T|FAM135B_uc003yvb.2_Silent_p.T581T	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1019										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCAGAGTAAAGGTCTCTGCAG	0.532										HNSCC(54;0.14)			A	139163661	G	A	139163661	2	1	104	1	0	0	0	0	0	0	0	1	5449	987	35	4		4	FAM135B	8	139163661	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4689534	139163661	7200361	3459	70073											
COL22A1	169044	broad.mit.edu	37	chr8	139701163	139701163	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatcatattggtcttaccttCtcaccacgctccccatcttt	4	15	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:139701163C>A	uc003yvd.2	-	37	3306	c.2859G>T	c.(2857-2859)GAG>GAT	p.E953D	COL22A1_uc011ljo.1_Missense_Mutation_p.E253D	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	953	Pro-rich.|Gly-rich.|Collagen-like 8.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTCTTACCTTCTCACCACGCT	0.512										HNSCC(7;0.00092)			A	139701163	C	A	139701163	3	1	104	1	0	0	0	0	1	0	0	0	3681	912	32	5	2137	5	COL22A1	8	139701163	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	537502	139701163	6662859	3460	70074											
PTK2	5747	broad.mit.edu	37	chr8	141749153	141749153	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actagctgaggtaaaacgtcGaaaattgattgactctggag	11	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:141749153G>A	uc003yvu.2	-	21	2019	c.1789C>T	c.(1789-1791)CGA>TGA	p.R597*	PTK2_uc003yvo.2_Nonsense_Mutation_p.R225*|PTK2_uc011ljq.1_Nonsense_Mutation_p.R292*|PTK2_uc003yvp.2_Nonsense_Mutation_p.R265*|PTK2_uc003yvq.2_Nonsense_Mutation_p.R123*|PTK2_uc003yvr.2_Nonsense_Mutation_p.R537*|PTK2_uc003yvs.2_Nonsense_Mutation_p.R597*|PTK2_uc003yvt.2_Nonsense_Mutation_p.R619*|PTK2_uc003yvv.2_Nonsense_Mutation_p.R497*|PTK2_uc011ljr.1_Nonsense_Mutation_p.R597*	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	597	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GTAAAACGTCGAAAATTGATT	0.284													A	141749153	G	A	141749153	4	1	104	1	0	0	0	0	0	1	0	0	12762	1066	37	1	1417	1	PTK2	8	141749153	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2047990	141749153	4614869	3461	70075											
DENND3	22898	broad.mit.edu	37	chr8	142154302	142154302	+	Missense_Mutation	SNP	G	G	T													aagtggacagtcatataaaaGatttcgctgcgaagctgtct							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:142154302G>T	uc003yvy.2	+	5	717	c.439G>T	c.(439-441)GAT>TAT	p.D147Y	DENND3_uc010mep.2_Missense_Mutation_p.D160Y	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	147	DENN.									ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCATATAAAAGATTTCGCTGC	0.373													T	142154302	G	T	142154302	3	4	104	1	0	0	0	0	1	0	0	0	4432	942	33	5	453	5	DENND3	8	142154302	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	405149	142154302	4209720	3462	70076	322	2									
DENND3	22898	broad.mit.edu	37	chr8	142154308	142154308	+	Missense_Mutation	SNP	G	G	A													acagtcatataaaagatttcGctgcgaagctgtctttaata							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:142154308G>A	uc003yvy.2	+	5	723	c.445G>A	c.(445-447)GCT>ACT	p.A149T	DENND3_uc010mep.2_Missense_Mutation_p.A162T	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	149	DENN.									ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AAAAGATTTCGCTGCGAAGCT	0.368													A	142154308	G	A	142154308	3	1	104	1	0	0	0	0	1	0	0	0	4432	1087	38	1	459	1	DENND3	8	142154308	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	6	142154308	4209714	3463	70077	322	2									
FLJ43860	389690	broad.mit.edu	37	chr8	142445254	142445254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagaggaagtggcgggcGctgaggcccctctcccaggc	16	14	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:142445254G>A	uc003ywi.2	-	29	3732	c.3651C>T	c.(3649-3651)AGC>AGT	p.S1217S	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	1217							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGTGGCGGGCGCTGAGGCCCC	0.672													A	142445254	G	A	142445254	2	1	104	1	0	0	0	0	0	0	0	1	5930	1078	38	1		1	FLJ43860	8	142445254	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	290946	142445254	3918768	3464	70078											
BAI1	575	broad.mit.edu	37	chr8	143614773	143614773	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagatcctcttcgctgtcttCgactcgctggagggcttcgt	11	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:143614773C>T	uc003ywm.2	+	24	3699	c.3516C>T	c.(3514-3516)TTC>TTT	p.F1172F		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1172	Helical; Name=7; (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCGCTGTCTTCGACTCGCTGG	0.672													T	143614773	C	T	143614773	2	4	104	1	0	0	0	0	0	0	0	1	1298	883	31	1		1	BAI1	8	143614773	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1169519	143614773	2749249	3465	70079											
GML	2765	broad.mit.edu	37	chr8	143921918	143921918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagccagtgccaccatgcGcgctcagtgtaagtatcatt	11	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:143921918G>A	uc003yxg.2	+	2	155	c.65G>A	c.(64-66)CGC>CAC	p.R22H		NM_002066	NP_002057	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule	22					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				central_nervous_system(2)	2	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCCACCATGCGCGCTCAGTGT	0.577													A	143921918	G	A	143921918	3	1	104	1	0	0	0	0	1	0	0	0	6492	1087	38	1	67	1	GML	8	143921918	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	307145	143921918	2442104	3466	70080											
CYP11B1	1584	broad.mit.edu	37	chr8	143958486	143958486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggacgtccagggtcaggCtcccccgggcgttctgcagc	15	15	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:143958486C>T	uc003yxi.2	-	3	555	c.548G>A	c.(547-549)AGC>AAC	p.S183N	CYP11B1_uc010mex.2_5'Flank|CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.S183N|CYP11B1_uc010mey.2_Missense_Mutation_p.S254N	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	183					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CAGGGTCAGGCTCCCCCGGGC	0.632									Familial_Hyperaldosteronism_type_I				T	143958486	C	T	143958486	3	4	104	1	0	0	0	0	1	0	0	0	4145	797	28	2	991	2	CYP11B1	8	143958486	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	36568	143958486	2405536	3467	70081											
CYP11B1	1584	broad.mit.edu	37	chr8	143961148	143961148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctggggacccgggcggCtctcgtgcccagtgcctgtg	16	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:143961148C>T	uc003yxi.2	-	1	89	c.82G>A	c.(82-84)GCC>ACC	p.A28T	CYP11B1_uc003yxj.2_Missense_Mutation_p.A28T|CYP11B1_uc010mey.2_Missense_Mutation_p.A28T	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	28					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	ACCCGGGCGGCTCTCGTGCCC	0.652									Familial_Hyperaldosteronism_type_I				T	143961148	C	T	143961148	3	4	104	1	0	0	0	0	1	0	0	0	4145	797	28	2	1465	2	CYP11B1	8	143961148	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2662	143961148	2402874	3468	70082											
CYP11B2	1585	broad.mit.edu	37	chr8	143996630	143996630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacatctgggttcagccGcaatcggttgaagcgccatt	11	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:143996630G>A	uc003yxk.1	-	3	430	c.427C>T	c.(427-429)CGG>TGG	p.R143W		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	143					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GGGTTCAGCCGCAATCGGTTG	0.622									Familial_Hyperaldosteronism_type_I				A	143996630	G	A	143996630	3	1	104	1	0	0	0	0	1	0	0	0	4146	1086	38	1	1112	1	CYP11B2	8	143996630	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	35482	143996630	2367392	3469	70083											
CYP11B2	1585	broad.mit.edu	37	chr8	143999256	143999256	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcctttgccctgagtgccaTtccaatgctccctccaccct	6	18	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:143999256T>G	uc003yxk.1	-	1	4	c.1A>C	c.(1-3)ATG>CTG	p.M1L		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	1					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CTGAGTGCCATTCCAATGCTC	0.602									Familial_Hyperaldosteronism_type_I				G	143999256	T	G	143999256	3	3	104	1	0	0	0	0	1	0	0	0	4146	1493	52	5	1546	5	CYP11B2	8	143999256	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2626	143999256	2364766	3470	70084											
LY6H	4062	broad.mit.edu	37	chr8	144240240	144240240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctgctgggatcggtgattCggacactggcacacaccgtg	14	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:144240240C>T	uc011lka.1	-	3	333	c.167G>A	c.(166-168)CGA>CAA	p.R56Q	LY6H_uc011lkb.1_Missense_Mutation_p.R77Q|LY6H_uc003yxt.2_Missense_Mutation_p.R94Q|LY6H_uc011lkc.1_Missense_Mutation_p.R77Q	NM_002347	NP_002338	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H isoform a	56	UPAR/Ly6.				nervous system development|organ morphogenesis	anchored to membrane|plasma membrane					0	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ATCGGTGATTCGGACACTGGC	0.602													T	144240240	C	T	144240240	3	4	104	1	0	0	0	0	1	0	0	0	9097	884	31	1	263	1	LY6H	8	144240240	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	240984	144240240	2123782	3471	70085											
RHPN1	114822	broad.mit.edu	37	chr8	144461522	144461522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggagaacttctcccatgcGccgagcccagacatgagcgc	12	14	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:144461522G>A	uc003yyb.2	+	8	922	c.789G>A	c.(787-789)GCG>GCA	p.A263A		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	rhophilin 1	263	BRO1.				signal transduction	intracellular				large_intestine(1)	1	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			TCTCCCATGCGCCGAGCCCAG	0.652													A	144461522	G	A	144461522	2	1	104	1	0	0	0	0	0	0	0	1	13350	1074	38	1		1	RHPN1	8	144461522	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	221282	144461522	1902500	3472	70086											
C8orf73	642475	broad.mit.edu	37	chr8	144651955	144651955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccctgccaggtgaggagtCgctccaggatgacctcctcc	11	16	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:144651955C>T	uc010mff.2	-	8	1258	c.1214G>A	c.(1213-1215)CGA>CAA	p.R405Q	C8orf73_uc010mfg.1_Silent_p.A417A	NM_001100878	NP_001094348	A6NGR9	CH073_HUMAN	hypothetical protein LOC642475	405	Leu-rich.						binding			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGTGAGGAGTCGCTCCAGGAT	0.692													T	144651955	C	T	144651955	3	4	104	1	0	0	0	0	1	0	0	0	2435	884	31	1	973	1	C8orf73	8	144651955	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	190433	144651955	1712067	3473	70087											
PYCRL	65263	broad.mit.edu	37	chr8	144690248	144690248	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacttgaaagtgacataggTtcctgtctgttggtgcactg	11	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:144690248T>C	uc003yyy.2	-	2	186	c.176A>G	c.(175-177)AAC>AGC	p.N59S	PYCRL_uc011lkm.1_Missense_Mutation_p.N59S|PYCRL_uc011lkn.1_RNA	NM_023078	NP_075566	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	47					proline biosynthetic process		pyrroline-5-carboxylate reductase activity				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GTGACATAGGTTCCTGTCTGT	0.512													C	144690248	T	C	144690248	3	2	104	1	0	0	0	0	1	0	0	0	12857	1725	60	3	704	3	PYCRL	8	144690248	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	38293	144690248	1673774	3474	70088											
EPPK1	83481	broad.mit.edu	37	chr8	144940819	144940819	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtcgtgctccgtcccgtTtccaggtcctggagcatttc	11	14	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:144940819T>C	uc003zaa.1	-	1	6616	c.6603A>G	c.(6601-6603)GAA>GAG	p.E2201E		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	2201						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCGTCCCGTTTCCAGGTCCT	0.592													C	144940819	T	C	144940819	2	2	104	1	0	0	0	0	0	0	0	1	5190	1838	64	3		3	EPPK1	8	144940819	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	250571	144940819	1423203	3475	70089											
HEATR7A	727957	broad.mit.edu	37	chr8	145223230	145223230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctgctggacgccatcaccGataaggaccccctggtgcag	11	16	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr8:145223230G>A	uc003zbk.3	+	4	292	c.55G>A	c.(55-57)GAT>AAT	p.D19N	HEATR7A_uc003zbg.2_Missense_Mutation_p.D19N|HEATR7A_uc003zbh.3_Missense_Mutation_p.D19N|HEATR7A_uc003zbi.3_Missense_Mutation_p.D19N|HEATR7A_uc011lla.1_Missense_Mutation_p.D19N|HEATR7A_uc010mft.2_Missense_Mutation_p.D19N	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN	HEAT repeat containing 7A isoform 1	19	HEAT 1.						binding				0						CGCCATCACCGATAAGGACCC	0.667													A	145223230	G	A	145223230	3	1	104	1	0	0	0	0	1	0	0	0	7034	1058	37	1	61	1	HEATR7A	8	145223230	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	282411	145223230	1140792	3476	70090											
C9orf66	157983	broad.mit.edu	37	chr9	214896	214896	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgcgcttggctgggcatgTtccgcggctactctgcggcg	15	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:214896T>G	uc003zge.3	-	1	998	c.501A>C	c.(499-501)GAA>GAC	p.E167D	DOCK8_uc011lls.1_5'UTR|DOCK8_uc003zgf.2_5'UTR	NM_152569	NP_689782	Q5T8R8	CI066_HUMAN	hypothetical protein LOC157983	167										central_nervous_system(1)	1	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCTGGGCATGTTCCGCGGCTA	0.687													G	214896	T	G	214896	3	3	104	1	0	0	0	0	1	0	0	0	2490	1722	60	5	390	5	C9orf66	9	214896	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08		214896	140998535	3477	70091											
DOCK8	81704	broad.mit.edu	37	chr9	336642	336642	+	Missense_Mutation	SNP	C	C	T													tagaaggctttctgaaagagCcctctccttggaggaaaatg							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:336642C>T	uc003zgf.2	+	12	1458	c.1346C>T	c.(1345-1347)GCC>GTC	p.A449V	DOCK8_uc011lls.1_Missense_Mutation_p.A449V|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.A381V|DOCK8_uc003zgg.2_Missense_Mutation_p.A381V|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	449	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCTGAAAGAGCCCTCTCCTTG	0.453													T	336642	C	T	336642	3	4	104	1	0	0	0	0	1	0	0	0	4693	739	26	2	1392	2	DOCK8	9	336642	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	121746	336642	140876789	3478	70092	323	2									
DOCK8	81704	broad.mit.edu	37	chr9	336644	336644	+	Missense_Mutation	SNP	C	C	A													gaaggctttctgaaagagccCtctccttggaggaaaatggg							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:336644C>A	uc003zgf.2	+	12	1460	c.1348C>A	c.(1348-1350)CTC>ATC	p.L450I	DOCK8_uc011lls.1_Missense_Mutation_p.L450I|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.L382I|DOCK8_uc003zgg.2_Missense_Mutation_p.L382I|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	450	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGAAAGAGCCCTCTCCTTGGA	0.453													A	336644	C	A	336644	3	1	104	1	0	0	0	0	1	0	0	0	4693	681	24	5	1394	5	DOCK8	9	336644	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2	336644	140876787	3479	70093	323	2									
KANK1	23189	broad.mit.edu	37	chr9	712098	712098	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcagcgtgacagaggccatGcttggagtgatgactgaagc	15	8	1	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:712098G>T	uc003zgl.1	+	7	1981	c.1332G>T	c.(1330-1332)ATG>ATT	p.M444I	KANK1_uc003zgm.2_Missense_Mutation_p.M444I|KANK1_uc003zgn.1_Missense_Mutation_p.M444I|KANK1_uc003zgo.1_Missense_Mutation_p.M444I|KANK1_uc003zgp.1_Missense_Mutation_p.M444I|KANK1_uc003zgq.2_Missense_Mutation_p.M286I|KANK1_uc003zgr.1_Missense_Mutation_p.M286I|KANK1_uc003zgs.1_Missense_Mutation_p.M286I	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	444					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CAGAGGCCATGCTTGGAGTGA	0.483													T	712098	G	T	712098	3	4	104	1	0	0	0	0	1	0	0	0	7976	1319	46	5	1338	5	KANK1	9	712098	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	375454	712098	140501333	3480	70094											
DMRT2	10655	broad.mit.edu	37	chr9	1053757	1053757	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccgggaaacagaataatttCgagcgcaaagctgtgtacca	10	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:1053757C>T	uc003zha.2	+	3	761	c.561C>T	c.(559-561)TTC>TTT	p.F187F	DMRT2_uc003zgx.3_5'UTR|DMRT2_uc010mgz.2_5'UTR|DMRT2_uc003zgy.3_Silent_p.F31F|DMRT2_uc003zhb.3_Silent_p.F187F|DMRT2_uc011llt.1_Silent_p.F187F|DMRT2_uc011llu.1_Silent_p.F187F|DMRT2_uc011llv.1_Silent_p.F187F	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor	187					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		AGAATAATTTCGAGCGCAAAG	0.448													T	1053757	C	T	1053757	2	4	104	1	0	0	0	0	0	0	0	1	4586	883	31	1		1	DMRT2	9	1053757	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	341659	1053757	140159674	3481	70095											
SMARCA2	6595	broad.mit.edu	37	chr9	2161877	2161877	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcagatgaacgctatcatCgatactgtgataaactacaa	7	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:2161877C>T	uc003zhc.2	+	28	4272	c.4173C>T	c.(4171-4173)ATC>ATT	p.I1391I	SMARCA2_uc003zhd.2_Silent_p.I1391I|SMARCA2_uc010mha.2_Silent_p.I1324I|SMARCA2_uc011llw.1_Silent_p.I95I|SMARCA2_uc003zhf.2_Silent_p.I55I|SMARCA2_uc011llx.1_Silent_p.I55I|SMARCA2_uc003zhe.2_Silent_p.I97I|SMARCA2_uc003zhg.2_Silent_p.I55I|SMARCA2_uc010mhb.2_Silent_p.I79I	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1391					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ACGCTATCATCGATACTGTGA	0.488													T	2161877	C	T	2161877	2	4	104	1	0	0	0	0	0	0	0	1	14769	874	31	1		1	SMARCA2	9	2161877	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1108120	2161877	139051554	3482	70096											
RCL1	10171	broad.mit.edu	37	chr9	4793106	4793106	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcacatggcgactcaggcGcactccctcagctacgcagg	12	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:4793106G>A	uc003zis.2	+	1	273	c.15G>A	c.(13-15)GCG>GCA	p.A5A	RCL1_uc003zit.2_5'UTR|RCL1_uc010mhk.1_5'UTR	NM_005772	NP_005763	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	5					ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		CGACTCAGGCGCACTCCCTCA	0.642													A	4793106	G	A	4793106	2	1	104	1	0	0	0	0	0	0	0	1	13178	1074	38	1		1	RCL1	9	4793106	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2631229	4793106	136420325	3483	70097											
JAK2	3717	broad.mit.edu	37	chr9	5022092	5022092	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccaattctatgaagcaaatAgatccagttcttcaggtgta	8	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:5022092A>T	uc010mhm.2	+	2	218	c.105A>T	c.(103-105)ATA>ATT	p.I35I	JAK2_uc003ziw.2_Silent_p.I35I	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	35	Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TGAAGCAAATAGATCCAGTTC	0.413		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				T	5022092	A	T	5022092	2	4	104	1	0	0	0	0	0	0	0	1	7938	410	15	5		5	JAK2	9	5022092	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	228986	5022092	136191339	3484	70098											
JAK2	3717	broad.mit.edu	37	chr9	5054708	5054708	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaacttgaaacttaagTatcttataaatctggaaact	5	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:5054708T>C	uc010mhm.2	+	6	873	c.760T>C	c.(760-762)TAT>CAT	p.Y254H	JAK2_uc003ziw.2_Missense_Mutation_p.Y254H	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	254	FERM.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GAAACTTAAGTATCTTATAAA	0.388		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				C	5054708	T	C	5054708	3	2	104	1	0	0	0	0	1	0	0	0	7938	1638	57	3	778	3	JAK2	9	5054708	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	32616	5054708	136158723	3485	70099											
PDCD1LG2	80380	broad.mit.edu	37	chr9	5534983	5534983	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccaagtgagggacgaaggAcagtaccaatgcataatcat	11	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:5534983A>G	uc003zjg.3	+	3	567	c.294A>G	c.(292-294)GGA>GGG	p.G98G	C9orf46_uc003zjd.2_Intron|PDCD1LG2_uc011lmc.1_Silent_p.G98G|PDCD1LG2_uc011lmd.1_Silent_p.G98G|PDCD1LG2_uc010mhp.1_Silent_p.G98G|PDCD1LG2_uc010mho.1_Silent_p.G98G	NM_025239	NP_079515	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2 precursor	98	Ig-like V-type.|Extracellular (Potential).				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity				0	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		GGGACGAAGGACAGTACCAAT	0.517													G	5534983	A	G	5534983	2	3	104	1	0	0	0	0	0	0	0	1	11618	262	10	3		3	PDCD1LG2	9	5534983	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	480275	5534983	135678448	3486	70100											
KIAA1432	57589	broad.mit.edu	37	chr9	5689981	5689981	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaatggatacatcttgtTttttcatattacatctacaa	5	7	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:5689981T>G	uc003zji.2	+	2	131	c.38T>G	c.(37-39)TTT>TGT	p.F13C	KIAA1432_uc003zjh.2_Missense_Mutation_p.F13C|KIAA1432_uc003zjl.3_Missense_Mutation_p.F13C	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN	connexin 43-interacting protein 150 isoform a	92	WD 1.					integral to membrane					0		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TACATCTTGTTTTTTCATATT	0.299													G	5689981	T	G	5689981	3	3	104	1	0	0	0	0	1	0	0	0	8233	1841	64	5	44	5	KIAA1432	9	5689981	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	154998	5689981	135523450	3487	70101											
KIAA1432	57589	broad.mit.edu	37	chr9	5763584	5763584	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttggcccagtcctgtgccAcattaccttacttccctcat	5	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:5763584A>G	uc003zji.2	+	18	2413	c.2320A>G	c.(2320-2322)ACA>GCA	p.T774A	KIAA1432_uc003zjh.2_Missense_Mutation_p.T774A|KIAA1432_uc003zjl.3_Missense_Mutation_p.T737A|KIAA1432_uc003zjj.1_Missense_Mutation_p.T316A	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN	connexin 43-interacting protein 150 isoform a	853						integral to membrane					0		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GTCCTGTGCCACATTACCTTA	0.537													G	5763584	A	G	5763584	3	3	104	1	0	0	0	0	1	0	0	0	8233	159	6	3	2390	3	KIAA1432	9	5763584	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	73603	5763584	135449847	3488	70102											
KIAA1432	57589	broad.mit.edu	37	chr9	5772625	5772625	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagctccatggtggatggCgactggacaatggtggatga	16	6	0	1	rs138589800		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:5772625C>T	uc003zji.2	+	23	3534	c.3441C>T	c.(3439-3441)GGC>GGT	p.G1147G	KIAA1432_uc003zjl.3_Silent_p.G1110G|ERMP1_uc011lme.1_Intron	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN	connexin 43-interacting protein 150 isoform a	1226						integral to membrane					0		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGGTGGATGGCGACTGGACAA	0.448													T	5772625	C	T	5772625	2	4	104	1	0	0	0	0	0	0	0	1	8233	755	27	1		1	KIAA1432	9	5772625	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	9041	5772625	135440806	3489	70103											
KIAA2026	158358	broad.mit.edu	37	chr9	5920617	5920617	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgttggcactgtagttgaAatccctggtgaatggaactg	12	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:5920617A>C	uc003zjq.3	-	8	5595	c.5379T>G	c.(5377-5379)ATT>ATG	p.I1793M	KIAA2026_uc010mht.2_Missense_Mutation_p.I968M	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	1793										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTGTAGTTGAAATCCCTGGTG	0.408													C	5920617	A	C	5920617	3	2	104	1	0	0	0	0	1	0	0	0	8270	10	1	5	936	5	KIAA2026	9	5920617	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	147992	5920617	135292814	3490	70104											
RANBP6	26953	broad.mit.edu	37	chr9	6015379	6015379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaacccagaggacaaaaGccgtcgtagcagtgcggcag	12	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:6015379G>A	uc003zjr.2	-	1	240	c.229C>T	c.(229-231)CTT>TTT	p.L77F	RANBP6_uc011lmf.1_Intron|RANBP6_uc003zjs.2_Intron	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	77					protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GAGGACAAAAGCCGTCGTAGC	0.458													A	6015379	G	A	6015379	3	1	104	1	0	0	0	0	1	0	0	0	13031	971	34	2	3092	2	RANBP6	9	6015379	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	94762	6015379	135198052	3491	70105											
IL33	90865	broad.mit.edu	37	chr9	6252976	6252976	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatatgttgaagacttgaaaAaagatgaaaagaaaggtaga	10	1	0	7			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:6252976A>C	uc003zjt.2	+	5	511	c.454A>C	c.(454-456)AAA>CAA	p.K152Q	IL33_uc011lmg.1_Intron|IL33_uc011lmh.1_Intron|IL33_uc003zju.1_Missense_Mutation_p.K152Q	NM_033439	NP_254274	O95760	IL33_HUMAN	interleukin 33 precursor	152					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity				0		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		AGACTTGAAAAAAGATGAAAA	0.249													C	6252976	A	C	6252976	3	2	104	1	0	0	0	0	1	0	0	0	7693	15	1	5	468	5	IL33	9	6252976	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	237597	6252976	134960455	3492	70106											
GLDC	2731	broad.mit.edu	37	chr9	6553497	6553497	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgattgggcaaaaacggggcGagatgtttcttcctgtattt	12	6	1	2	rs149600380	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:6553497G>A	uc003zkc.2	-	20	2521	c.2328C>T	c.(2326-2328)CTC>CTT	p.L776L		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	776					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AAAACGGGGCGAGATGTTTCT	0.478													A	6553497	G	A	6553497	2	1	104	1	0	0	0	0	0	0	0	1	6433	1045	37	1		1	GLDC	9	6553497	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	300521	6553497	134659934	3493	70107											
GLDC	2731	broad.mit.edu	37	chr9	6595109	6595109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacatggcagccatattcGccaagagggcctaaaagata	9	10	0	2	rs121964979		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:6595109G>A	uc003zkc.2	-	9	1359	c.1166C>T	c.(1165-1167)GCG>GTG	p.A389V		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	389					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AGCCATATTCGCCAAGAGGGC	0.433													A	6595109	G	A	6595109	3	1	104	1	0	0	0	0	1	0	0	0	6433	1087	38	1	1964	1	GLDC	9	6595109	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	41612	6595109	134618322	3494	70108											
PTPRD	5789	broad.mit.edu	37	chr9	8317890	8317890	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttctacgttgcatagtggTcaaagctgcccaggtactct	10	10	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:8317890T>C	uc003zkk.2	-	45	6434	c.5723A>G	c.(5722-5724)GAC>GGC	p.D1908G	PTPRD_uc003zkp.2_Missense_Mutation_p.D1502G|PTPRD_uc003zkq.2_Missense_Mutation_p.D1501G|PTPRD_uc003zkr.2_Missense_Mutation_p.D1492G|PTPRD_uc003zks.2_Missense_Mutation_p.D1501G|PTPRD_uc003zkl.2_Missense_Mutation_p.D1899G|PTPRD_uc003zkm.2_Missense_Mutation_p.D1895G|PTPRD_uc003zkn.2_Missense_Mutation_p.D1497G|PTPRD_uc003zko.2_Missense_Mutation_p.D1498G	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1908	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGCATAGTGGTCAAAGCTGCC	0.478										TSP Lung(15;0.13)			C	8317890	T	C	8317890	3	2	104	1	0	0	0	0	1	0	0	0	12799	1667	58	3	19	3	PTPRD	9	8317890	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1722781	8317890	132895541	3495	70109											
C9orf150	286343	broad.mit.edu	37	chr9	12821683	12821683	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacttggaccaattcagtgAcagctccctcatagaggact	9	11	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:12821683A>G	uc003zkw.2	+	2	1314	c.611A>G	c.(610-612)GAC>GGC	p.D204G		NM_203403	NP_981948	Q8IV03	CI150_HUMAN	hypothetical protein LOC286343	207											0				GBM - Glioblastoma multiforme(1;1.64e-13)		CAATTCAGTGACAGCTCCCTC	0.502													G	12821683	A	G	12821683	3	3	104	1	0	0	0	0	1	0	0	0	2462	275	10	3	617	3	C9orf150	9	12821683	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	4503793	12821683	128391748	3496	70110											
MPDZ	8777	broad.mit.edu	37	chr9	13168391	13168391	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagggccaatgagagaatgTcttctcaacatagctcgtgc	10	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:13168391T>G	uc010mia.1	-	21	3285	c.3228A>C	c.(3226-3228)AGA>AGC	p.R1076S	MPDZ_uc011lmm.1_5'Flank|MPDZ_uc003zkz.3_5'UTR|MPDZ_uc010mhy.2_Missense_Mutation_p.R1076S|MPDZ_uc010mhz.2_Missense_Mutation_p.R1076S|MPDZ_uc011lmn.1_Missense_Mutation_p.R1076S|MPDZ_uc003zlb.3_Missense_Mutation_p.R1076S	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1076	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		TGAGAGAATGTCTTCTCAACA	0.413													G	13168391	T	G	13168391	3	3	104	1	0	0	0	0	1	0	0	0	9722	1664	58	5	2997	5	MPDZ	9	13168391	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	346708	13168391	128045040	3497	70111											
ZDHHC21	340481	broad.mit.edu	37	chr9	14619044	14619044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaccacaggatcttccaacGagtgccaaaaacttctgaga	8	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:14619044G>A	uc003zli.2	-	10	1188	c.718C>T	c.(718-720)CGT>TGT	p.R240C	ZDHHC21_uc003zlg.1_Intron	NM_178566	NP_848661	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	240					nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(50;4.31e-06)		ATCTTCCAACGAGTGCCAAAA	0.502													A	14619044	G	A	14619044	3	1	104	1	0	0	0	0	1	0	0	0	17609	1045	37	1	75	1	ZDHHC21	9	14619044	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1450653	14619044	126594387	3498	70112											
FREM1	158326	broad.mit.edu	37	chr9	14737488	14737488	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaccaaaacacagctcTttccaagcttggagcgttga	8	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:14737488T>G	uc003zlm.2	-	37	7036	c.6446A>C	c.(6445-6447)AAG>ACG	p.K2149T	FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_RNA|FREM1_uc003zll.2_Missense_Mutation_p.K685T	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	2149	C-type lectin.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		AACACAGCTCTTTCCAAGCTT	0.468													G	14737488	T	G	14737488	3	3	104	1	0	0	0	0	1	0	0	0	6044	1609	56	5	97	5	FREM1	9	14737488	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	118444	14737488	126475943	3499	70113											
FREM1	158326	broad.mit.edu	37	chr9	14748531	14748531	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctttccagatgaaaggaAccagaagtggtggatgagga	13	6	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:14748531A>G	uc003zlm.2	-	31	6254	c.5664T>C	c.(5662-5664)GGT>GGC	p.G1888G	FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_Intron|FREM1_uc003zll.2_Silent_p.G424G	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	1888					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		GATGAAAGGAACCAGAAGTGG	0.512													G	14748531	A	G	14748531	2	3	104	1	0	0	0	0	0	0	0	1	6044	30	2	3		3	FREM1	9	14748531	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	11043	14748531	126464900	3500	70114											
FREM1	158326	broad.mit.edu	37	chr9	14851533	14851533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttccagaataaacacggCcatgaatgcagcctttggaa	8	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:14851533C>T	uc003zlm.2	-	6	1491	c.901G>A	c.(901-903)GCC>ACC	p.A301T	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	301	CSPG 1.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		ATAAACACGGCCATGAATGCA	0.453													T	14851533	C	T	14851533	3	4	104	1	0	0	0	0	1	0	0	0	6044	739	26	2	5816	2	FREM1	9	14851533	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	103002	14851533	126361898	3501	70115											
TTC39B	158219	broad.mit.edu	37	chr9	15192692	15192692	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgcaggatagaaagacattCtctgggttgaagaaaaaaag	11	4	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:15192692C>A	uc003zlr.1	-	9	749	c.628G>T	c.(628-630)GAA>TAA	p.E210*	TTC39B_uc003zlq.1_Nonsense_Mutation_p.E179*|TTC39B_uc011lmp.1_Nonsense_Mutation_p.E111*|TTC39B_uc010mie.1_Nonsense_Mutation_p.E208*|TTC39B_uc011lmq.1_Nonsense_Mutation_p.E210*|TTC39B_uc011lmr.1_Nonsense_Mutation_p.E141*|TTC39B_uc010mif.1_Nonsense_Mutation_p.E210*|TTC39B_uc003zls.1_Nonsense_Mutation_p.E111*|TTC39B_uc010mig.1_Nonsense_Mutation_p.E179*|TTC39B_uc011lms.1_RNA	NM_152574	NP_689787	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	210							binding			ovary(1)	1						GAAAGACATTCTCTGGGTTGA	0.348													A	15192692	C	A	15192692	4	1	104	1	0	0	0	0	0	1	0	0	16705	927	32	5	1291	5	TTC39B	9	15192692	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	341159	15192692	126020739	3502	70116											
C9orf93	203238	broad.mit.edu	37	chr9	15571628	15571628	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atctcattttaaaggttgaaGattgcctcattggatgtaaa	8	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:15571628G>T	uc003zmd.2	+	3	363	c.48G>T	c.(46-48)AAG>AAT	p.K16N	C9orf93_uc010mih.1_Missense_Mutation_p.K16N|C9orf93_uc003zme.2_5'UTR|C9orf93_uc011lmu.1_Missense_Mutation_p.K16N|C9orf93_uc003zmc.2_Missense_Mutation_p.K16N	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	16											0				GBM - Glioblastoma multiforme(50;4.84e-07)		AAAGGTTGAAGATTGCCTCAT	0.279													T	15571628	G	T	15571628	3	4	104	1	0	0	0	0	1	0	0	0	2506	933	33	5	54	5	C9orf93	9	15571628	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	378936	15571628	125641803	3503	70117											
C9orf93	203238	broad.mit.edu	37	chr9	15678796	15678796	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccaaaaataagaaactaaatGaagacatcgaggaacagaag	8	6	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:15678796G>T	uc003zmd.2	+	10	1432	c.1117G>T	c.(1117-1119)GAA>TAA	p.E373*	C9orf93_uc010mih.1_Nonsense_Mutation_p.E373*|C9orf93_uc003zme.2_Nonsense_Mutation_p.E280*|C9orf93_uc011lmu.1_Nonsense_Mutation_p.E373*	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	373	Glu-rich.|Potential.										0				GBM - Glioblastoma multiforme(50;4.84e-07)		GAAACTAAATGAAGACATCGA	0.313													T	15678796	G	T	15678796	4	4	104	1	0	0	0	0	0	1	0	0	2506	1291	45	5	1151	5	C9orf93	9	15678796	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	107168	15678796	125534635	3504	70118											
C9orf93	203238	broad.mit.edu	37	chr9	15678883	15678883	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttgcagtgaattacaggaaGaactagtaatggtaaggata	12	3	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:15678883G>A	uc003zmd.2	+	10	1519	c.1204G>A	c.(1204-1206)GAA>AAA	p.E402K	C9orf93_uc010mih.1_Missense_Mutation_p.E402K|C9orf93_uc003zme.2_Missense_Mutation_p.E309K|C9orf93_uc011lmu.1_Missense_Mutation_p.E402K	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	402											0				GBM - Glioblastoma multiforme(50;4.84e-07)		ATTACAGGAAGAACTAGTAAT	0.338													A	15678883	G	A	15678883	3	1	104	1	0	0	0	0	1	0	0	0	2506	943	33	4	1238	4	C9orf93	9	15678883	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	87	15678883	125534548	3505	70119											
C9orf93	203238	broad.mit.edu	37	chr9	15874610	15874610	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctacccaaactgcacctggaGacctttgcaatggaggggct	11	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:15874610G>T	uc003zmd.2	+	24	3864	c.3549G>T	c.(3547-3549)GAG>GAT	p.E1183D	C9orf93_uc003zme.2_Missense_Mutation_p.E1098D|C9orf93_uc011lmu.1_Missense_Mutation_p.E1191D|C9orf93_uc003zmf.1_Missense_Mutation_p.E491D	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	1183											0				GBM - Glioblastoma multiforme(50;4.84e-07)		TGCACCTGGAGACCTTTGCAA	0.473													T	15874610	G	T	15874610	3	4	104	1	0	0	0	0	1	0	0	0	2506	933	33	5	3639	5	C9orf93	9	15874610	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	195727	15874610	125338821	3506	70120											
CNTLN	54875	broad.mit.edu	37	chr9	17462966	17462966	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtgaagactttgaaatTtgaactcctagcaaaagaag	8	5	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:17462966T>G	uc003zmz.2	+	20	3382	c.3356T>G	c.(3355-3357)TTT>TGT	p.F1119C	CNTLN_uc003zmy.2_Missense_Mutation_p.F1120C|CNTLN_uc010mio.2_Missense_Mutation_p.F799C	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1120	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		ACTTTGAAATTTGAACTCCTA	0.318													G	17462966	T	G	17462966	3	3	104	1	0	0	0	0	1	0	0	0	3639	1841	64	5	3467	5	CNTLN	9	17462966	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1588356	17462966	123750465	3507	70121											
SH3GL2	6456	broad.mit.edu	37	chr9	17786463	17786463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctatcctcaggcagaggCgctgctggcagaggccatgc	15	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:17786463C>T	uc003zna.2	+	4	560	c.272C>T	c.(271-273)GCG>GTG	p.A91V	SH3GL2_uc011lmx.1_Missense_Mutation_p.A56V|SH3GL2_uc011lmy.1_Missense_Mutation_p.A44V	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	91	BAR.|Binds and tubulates liposomes (By similarity).				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			skin(1)	1				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		CAGGCAGAGGCGCTGCTGGCA	0.493													T	17786463	C	T	17786463	3	4	104	1	0	0	0	0	1	0	0	0	14251	768	27	1	286	1	SH3GL2	9	17786463	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	323497	17786463	123426968	3508	70122											
HAUS6	54801	broad.mit.edu	37	chr9	19058433	19058433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacttcttccgggagagtttCgtgtaatatgccaaaatcat	8	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:19058433C>T	uc003znk.2	-	16	2585	c.2332G>A	c.(2332-2334)GAA>AAA	p.E778K	HAUS6_uc011lmz.1_Missense_Mutation_p.E498K|HAUS6_uc003znl.1_Missense_Mutation_p.E642K	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	778					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2						GGGAGAGTTTCGTGTAATATG	0.358													T	19058433	C	T	19058433	3	4	104	1	0	0	0	0	1	0	0	0	6970	893	31	1	543	1	HAUS6	9	19058433	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1271970	19058433	122154998	3509	70123											
PLIN2	123	broad.mit.edu	37	chr9	19116286	19116286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgctgggtctcctggctgCtcttgtccatctctgcacct	9	15	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:19116286C>T	uc003zno.2	-	8	1453	c.1274G>A	c.(1273-1275)AGC>AAC	p.S425N	PLIN2_uc011lna.1_Missense_Mutation_p.S397N	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	adipose differentiation-related protein	425					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				ovary(2)	2						CTCCTGGCTGCTCTTGTCCAT	0.498													T	19116286	C	T	19116286	3	4	104	1	0	0	0	0	1	0	0	0	12090	797	28	2	43	2	PLIN2	9	19116286	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	57853	19116286	122097145	3510	70124											
DENND4C	55667	broad.mit.edu	37	chr9	19331982	19331982	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tattctctttctaggaaataAaaacagctcataaattggcg	6	7	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:19331982A>C	uc003znq.2	+	13	1585	c.1552A>C	c.(1552-1554)AAA>CAA	p.K518Q	DENND4C_uc011lnc.1_Intron	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	518						integral to membrane				ovary(1)|skin(1)	2						CTAGGAAATAAAAACAGCTCA	0.338													C	19331982	A	C	19331982	3	2	104	1	0	0	0	0	1	0	0	0	4435	15	1	5	1602	5	DENND4C	9	19331982	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	215696	19331982	121881449	3511	70125											
DENND4C	55667	broad.mit.edu	37	chr9	19371815	19371815	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taggaagagagaatattgatAttggtaagttggttaataaa	11	0	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:19371815A>T	uc003znq.2	+	27	4915	c.4882A>T	c.(4882-4884)ATT>TTT	p.I1628F	DENND4C_uc011lnc.1_Missense_Mutation_p.I958F|DENND4C_uc011lnd.1_Missense_Mutation_p.I916F|DENND4C_uc003znr.2_3'UTR|DENND4C_uc003zns.2_Intron	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1628						integral to membrane				ovary(1)|skin(1)	2						GAATATTGATATTGGTAAGTT	0.244													T	19371815	A	T	19371815	3	4	104	1	0	0	0	0	1	0	0	0	4435	449	16	5	4988	5	DENND4C	9	19371815	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	39833	19371815	121841616	3512	70126											
KIAA1797	54914	broad.mit.edu	37	chr9	20720434	20720434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtgacaatgtagtggttcGaacagcctgctgtgaaggtc	13	8	0	2	rs143009945		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:20720434G>A	uc003zog.1	+	6	551	c.188G>A	c.(187-189)CGA>CAA	p.R63Q		NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	63						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		GTAGTGGTTCGAACAGCCTGC	0.468													A	20720434	G	A	20720434	3	1	104	1	0	0	0	0	1	0	0	0	8258	1058	37	1	198	1	KIAA1797	9	20720434	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1348619	20720434	120492997	3513	70127											
KIAA1797	54914	broad.mit.edu	37	chr9	20758164	20758164	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttttgcagcagctgacAgcgtttttccagcagtgccc	11	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:20758164A>C	uc003zog.1	+	8	831	c.468A>C	c.(466-468)ACA>ACC	p.T156T		NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	156						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		AGCAGCTGACAGCGTTTTTCC	0.403													C	20758164	A	C	20758164	2	2	104	1	0	0	0	0	0	0	0	1	8258	175	7	5		5	KIAA1797	9	20758164	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	37730	20758164	120455267	3514	70128											
KIAA1797	54914	broad.mit.edu	37	chr9	20770060	20770060	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgatacagacaacagaggcGatgatgtttattgaggaagt	12	4	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:20770060G>A	uc003zog.1	+	10	1092	c.729G>A	c.(727-729)GCG>GCA	p.A243A		NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	243						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		CAACAGAGGCGATGATGTTTA	0.328													A	20770060	G	A	20770060	2	1	104	1	0	0	0	0	0	0	0	1	8258	1045	37	1		1	KIAA1797	9	20770060	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	11896	20770060	120443371	3515	70129											
KIAA1797	54914	broad.mit.edu	37	chr9	20907233	20907233	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaatcgagcttatcatgccAttttacaggtaatgaaacca	7	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:20907233A>C	uc003zog.1	+	24	3073	c.2710A>C	c.(2710-2712)ATT>CTT	p.I904L	KIAA1797_uc003zoh.1_Missense_Mutation_p.I340L	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	904						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		TTATCATGCCATTTTACAGGT	0.338													C	20907233	A	C	20907233	3	2	104	1	0	0	0	0	1	0	0	0	8258	217	8	5	2792	5	KIAA1797	9	20907233	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	137173	20907233	120306198	3516	70130											
IFNA10	3446	broad.mit.edu	37	chr9	21206631	21206631	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acaagggctgtatttcctctCtattagataaagagtgattc	8	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:21206631C>A	uc003zoq.1	-	1	512	c.466G>T	c.(466-468)GAG>TAG	p.E156*	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	interferon, alpha 10 precursor	156					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		TATTTCCTCTCTATTAGATAA	0.448													A	21206631	C	A	21206631	4	1	104	1	0	0	0	0	0	1	0	0	7532	922	32	5	107	5	IFNA10	9	21206631	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	299398	21206631	120006800	3517	70131											
IFNA16	3449	broad.mit.edu	37	chr9	21217072	21217072	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggatcatctcatggaaggcaGagatggcttgagccttctgg	14	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:21217072G>T	uc003zor.1	-	1	239	c.233C>A	c.(232-234)TCT>TAT	p.S78Y	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	interferon, alpha 16 precursor	78					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			skin(1)	1				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ATGGAAGGCAGAGATGGCTTG	0.473													T	21217072	G	T	21217072	3	4	104	1	0	0	0	0	1	0	0	0	7535	942	33	5	340	5	IFNA16	9	21217072	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	10441	21217072	119996359	3518	70132											
KLHL9	55958	broad.mit.edu	37	chr9	21333694	21333694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaagtgaaagaatgtgcGcttttcatttaatgatgcaa	8	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:21333694G>A	uc003zoy.2	-	1	1736	c.1165C>T	c.(1165-1167)CGC>TGC	p.R389C	KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	kelch-like 9	389	Kelch 2.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				ovary(3)|skin(1)	4				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		AAGAATGTGCGCTTTTCATTT	0.413													A	21333694	G	A	21333694	3	1	104	1	0	0	0	0	1	0	0	0	8396	1087	38	1	692	1	KLHL9	9	21333694	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	116622	21333694	119879737	3519	70133											
KLHL9	55958	broad.mit.edu	37	chr9	21334480	21334480	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgtaaaaagctagcagcttCaagtgtgtcctgaagattgt	10	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:21334480C>T	uc003zoy.2	-	1	950	c.379G>A	c.(379-381)GAA>AAA	p.E127K	KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	kelch-like 9	127					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				ovary(3)|skin(1)	4				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		CTAGCAGCTTCAAGTGTGTCC	0.348													T	21334480	C	T	21334480	3	4	104	1	0	0	0	0	1	0	0	0	8396	835	29	4	1478	4	KLHL9	9	21334480	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	786	21334480	119878951	3520	70134											
IFNA2	3440	broad.mit.edu	37	chr9	21385197	21385197	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagaaaagagagattctcctCatctgtgccaggagcatcaa	10	9	4	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:21385197C>A	uc003zpb.2	-	1	200	c.132G>T	c.(130-132)ATG>ATT	p.M44I		NM_000605	NP_000596	P01563	IFNA2_HUMAN	interferon, alpha 2 precursor	44					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)	1				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AGATTCTCCTCATCTGTGCCA	0.532													A	21385197	C	A	21385197	3	1	104	1	0	0	0	0	1	0	0	0	7537	826	29	5	438	5	IFNA2	9	21385197	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	50717	21385197	119828234	3521	70135											
IFT74	80173	broad.mit.edu	37	chr9	27048155	27048155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcaaatgcagaatataaatCgtatagaacagatatcctct	6	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:27048155C>T	uc010mja.2	+	16	1343	c.1216C>T	c.(1216-1218)CGT>TGT	p.R406C	IFT74_uc010mjb.2_Missense_Mutation_p.R406C|IFT74_uc003zqg.3_Missense_Mutation_p.R406C	NM_001099223	NP_001092693	Q96LB3	IFT74_HUMAN	coiled-coil domain containing 2 isoform a	406	Potential.					cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				skin(1)	1		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		GAATATAAATCGTATAGAACA	0.328													T	27048155	C	T	27048155	3	4	104	1	0	0	0	0	1	0	0	0	7563	884	31	1	1343	1	IFT74	9	27048155	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5662958	27048155	114165276	3522	70136											
TEK	7010	broad.mit.edu	37	chr9	27202837	27202837	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcttcctcctcaaccagaAaacatcaagatttccaacat	3	13	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:27202837A>C	uc003zqi.3	+	13	2371	c.1929A>C	c.(1927-1929)GAA>GAC	p.E643D	TEK_uc011lno.1_Missense_Mutation_p.E600D|TEK_uc011lnp.1_Missense_Mutation_p.E496D|TEK_uc003zqj.1_Missense_Mutation_p.E577D	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	643	Extracellular (Potential).|Fibronectin type-III 3.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CTCAACCAGAAAACATCAAGA	0.343													C	27202837	A	C	27202837	3	2	104	1	0	0	0	0	1	0	0	0	15748	11	1	5	1979	5	TEK	9	27202837	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	154682	27202837	114010594	3523	70137											
LINGO2	158038	broad.mit.edu	37	chr9	27949023	27949023	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accactcccaggaatgtgaaGcagcccatagctgtagacac	9	13	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:27949023G>T	uc003zqu.1	-	2	1841	c.1647C>A	c.(1645-1647)TGC>TGA	p.C549*	LINGO2_uc010mjf.1_Nonsense_Mutation_p.C549*|LINGO2_uc003zqv.1_Nonsense_Mutation_p.C549*	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	549	Helical; (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GGAATGTGAAGCAGCCCATAG	0.443													T	27949023	G	T	27949023	4	4	104	1	0	0	0	0	0	1	0	0	8815	963	34	5	177	5	LINGO2	9	27949023	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	746186	27949023	113264408	3524	70138											
LINGO2	158038	broad.mit.edu	37	chr9	27949138	27949138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacataggggtcctgttcGcataaagaaaacgatctgaa	10	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:27949138G>A	uc003zqu.1	-	2	1726	c.1532C>T	c.(1531-1533)GCG>GTG	p.A511V	LINGO2_uc010mjf.1_Missense_Mutation_p.A511V|LINGO2_uc003zqv.1_Missense_Mutation_p.A511V	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	511	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GGTCCTGTTCGCATAAAGAAA	0.453													A	27949138	G	A	27949138	3	1	104	1	0	0	0	0	1	0	0	0	8815	1087	38	1	292	1	LINGO2	9	27949138	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	115	27949138	113264293	3525	70139											
TAF1L	138474	broad.mit.edu	37	chr9	32630386	32630386	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggggctggaggcttaggtTtcccatcctcctcctcatca	10	14	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:32630386T>C	uc003zrg.1	-	1	5282	c.5192A>G	c.(5191-5193)AAA>AGA	p.K1731R		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1731					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGGCTTAGGTTTCCCATCCTC	0.517													C	32630386	T	C	32630386	3	2	104	1	0	0	0	0	1	0	0	0	15520	1841	64	3	292	3	TAF1L	9	32630386	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	4681248	32630386	108583045	3526	70140											
TAF1L	138474	broad.mit.edu	37	chr9	32630947	32630947	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgggtgatgaaatggccaaGaatctggaactgccatcatt	11	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:32630947G>T	uc003zrg.1	-	1	4721	c.4631C>A	c.(4630-4632)TCT>TAT	p.S1544Y	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1544	Bromo 2.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAATGGCCAAGAATCTGGAAC	0.398													T	32630947	G	T	32630947	3	4	104	1	0	0	0	0	1	0	0	0	15520	942	33	5	853	5	TAF1L	9	32630947	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	561	32630947	108582484	3527	70141											
TAF1L	138474	broad.mit.edu	37	chr9	32632206	32632206	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcttgttctgcaacatgttCtcaatgttctttcccatttc	4	11	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:32632206C>A	uc003zrg.1	-	1	3462	c.3372G>T	c.(3370-3372)GAG>GAT	p.E1124D	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1124					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCAACATGTTCTCAATGTTCT	0.468													A	32632206	C	A	32632206	3	1	104	1	0	0	0	0	1	0	0	0	15520	912	32	5	2112	5	TAF1L	9	32632206	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1259	32632206	108581225	3528	70142											
TAF1L	138474	broad.mit.edu	37	chr9	32633110	32633110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaaaacctgtagaaagtctCgaatatgcatattggccctt	7	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:32633110C>T	uc003zrg.1	-	1	2558	c.2468G>A	c.(2467-2469)CGA>CAA	p.R823Q	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	823					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TAGAAAGTCTCGAATATGCAT	0.423													T	32633110	C	T	32633110	3	4	104	1	0	0	0	0	1	0	0	0	15520	884	31	1	3016	1	TAF1L	9	32633110	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	904	32633110	108580321	3529	70143											
NOL6	65083	broad.mit.edu	37	chr9	33472254	33472254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatctcagtctcccgaaggcGattaagctcctcattggtag	10	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:33472254G>A	uc003zsz.2	-	2	312	c.211C>T	c.(211-213)CGC>TGC	p.R71C	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zta.2_Missense_Mutation_p.R71C|NOL6_uc010mjv.2_Missense_Mutation_p.R71C|NOL6_uc011lob.1_Missense_Mutation_p.R71C|NOL6_uc003ztb.1_Missense_Mutation_p.R71C	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	71					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TCCCGAAGGCGATTAAGCTCC	0.537													A	33472254	G	A	33472254	3	1	104	1	0	0	0	0	1	0	0	0	10525	1058	37	1	3329	1	NOL6	9	33472254	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	839144	33472254	107741177	3530	70144											
UBAP2	55833	broad.mit.edu	37	chr9	33953403	33953403	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagccctgctgttgggaagtTtcaaaggagttggcttctga	13	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:33953403T>G	uc003ztq.1	-	12	1049	c.936A>C	c.(934-936)GAA>GAC	p.E312D	UBAP2_uc011loc.1_Missense_Mutation_p.E221D|UBAP2_uc011lod.1_Missense_Mutation_p.E45D|UBAP2_uc011loe.1_Missense_Mutation_p.E67D|UBAP2_uc011lof.1_Missense_Mutation_p.E237D|UBAP2_uc011log.1_Missense_Mutation_p.E258D|UBAP2_uc003ztr.2_Missense_Mutation_p.E184D|SNORD121A_uc010mjz.2_5'Flank	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	312										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GTTGGGAAGTTTCAAAGGAGT	0.507													G	33953403	T	G	33953403	3	3	104	1	0	0	0	0	1	0	0	0	16834	1838	64	5	2495	5	UBAP2	9	33953403	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	481149	33953403	107260028	3531	70145											
DCAF12	25853	broad.mit.edu	37	chr9	34107458	34107458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttctagaaggattcagctCgatggcatggataccacagc	11	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:34107458C>T	uc003ztt.2	-	3	781	c.439G>A	c.(439-441)GAG>AAG	p.E147K		NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	147	WD 1.					centrosome|CUL4 RING ubiquitin ligase complex					0						GGATTCAGCTCGATGGCATGG	0.537													T	34107458	C	T	34107458	3	4	104	1	0	0	0	0	1	0	0	0	4263	893	31	1	950	1	DCAF12	9	34107458	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	154055	34107458	107105973	3532	70146											
NUDT2	318	broad.mit.edu	37	chr9	34339065	34339065	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagagcatgtggcttgatcAtcttccgaagatgcctcatt	10	9	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:34339065A>C	uc003zub.2	+	4	386	c.28A>C	c.(28-30)ATC>CTC	p.I10L	NUDT2_uc003zuc.2_Missense_Mutation_p.I10L|NUDT2_uc003zud.2_Missense_Mutation_p.I10L	NM_001161	NP_001152	P50583	AP4A_HUMAN	nudix-type motif 2	10	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding				0			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TGGCTTGATCATCTTCCGAAG	0.433													C	34339065	A	C	34339065	3	2	104	1	0	0	0	0	1	0	0	0	10737	217	8	5	30	5	NUDT2	9	34339065	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	231607	34339065	106874366	3533	70147											
CCL27	10850	broad.mit.edu	37	chr9	34662389	34662389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagagctgagtacagcagGcagtgctgggtggcagtagg	19	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:34662389G>A	uc003zvm.1	-	2	154	c.95C>T	c.(94-96)GCC>GTC	p.A32V		NM_006664	NP_006655	Q9Y4X3	CCL27_HUMAN	small inducible cytokine A27 precursor	32					cell-cell signaling|chemotaxis|immune response	extracellular space	chemokine activity				0	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		AGTACAGCAGGCAGTGCTGGG	0.572													A	34662389	G	A	34662389	3	1	104	1	0	0	0	0	1	0	0	0	2899	1203	42	2	251	2	CCL27	9	34662389	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	323324	34662389	106551042	3534	70148											
CCL19	6363	broad.mit.edu	37	chr9	34689961	34689961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcagtctctggatgatgCgttctacccagggctggtct	12	11	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:34689961C>T	uc003zvn.2	-	3	380	c.242G>A	c.(241-243)CGC>CAC	p.R81H	CCL19_uc010mkf.2_Intron	NM_006274	NP_006265	Q99731	CCL19_HUMAN	small inducible cytokine A19 precursor	81					activation of JUN kinase activity|cell communication|cell maturation|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|interleukin-12 secretion|myeloid dendritic cell chemotaxis|negative regulation of leukocyte apoptosis|positive regulation of Cdc42 GTPase activity|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB import into nucleus|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of receptor-mediated endocytosis|positive regulation of T cell proliferation|positive regulation of T-helper 1 cell differentiation|positive regulation of tumor necrosis factor production|regulation of cell projection assembly|release of sequestered calcium ion into cytosol|response to nitric oxide|response to prostaglandin E stimulus|response to virus|T cell costimulation	extracellular space	CCR10 chemokine receptor binding|CCR7 chemokine receptor binding|chemokine activity				0	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CTGGATGATGCGTTCTACCCA	0.627													T	34689961	C	T	34689961	3	4	104	1	0	0	0	0	1	0	0	0	2890	768	27	1	62	1	CCL19	9	34689961	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	27572	34689961	106523470	3535	70149											
C9orf131	138724	broad.mit.edu	37	chr9	35044662	35044662	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtggagcaaagaaagaAccactgggccactgagctcc	13	11	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:35044662A>G	uc003zvw.2	+	2	2065	c.2036A>G	c.(2035-2037)AAC>AGC	p.N679S	C9orf131_uc003zvu.2_Missense_Mutation_p.N631S|C9orf131_uc003zvv.2_Missense_Mutation_p.N606S|C9orf131_uc003zvx.2_Missense_Mutation_p.N644S	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	hypothetical protein LOC138724 isoform A	679											0	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CAAAGAAAGAACCACTGGGCC	0.517													G	35044662	A	G	35044662	3	3	104	1	0	0	0	0	1	0	0	0	2457	43	2	3	2058	3	C9orf131	9	35044662	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	354701	35044662	106168769	3536	70150											
PIGO	84720	broad.mit.edu	37	chr9	35094318	35094318	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaaagcaccagggaaaaggtCtttccaggtatcatctccca	9	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:35094318C>A	uc003zwd.2	-	3	946	c.550G>T	c.(550-552)GAC>TAC	p.D184Y	PIGO_uc003zwc.1_Missense_Mutation_p.D184Y|PIGO_uc003zwe.2_Missense_Mutation_p.D184Y|PIGO_uc003zwf.2_Missense_Mutation_p.D184Y|PIGO_uc003zwg.1_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	184					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGGAAAAGGTCTTTCCAGGTA	0.493													A	35094318	C	A	35094318	3	1	104	1	0	0	0	0	1	0	0	0	11894	913	32	5	2755	5	PIGO	9	35094318	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	49656	35094318	106119113	3537	70151											
PIGO	84720	broad.mit.edu	37	chr9	35095206	35095206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacctgagatcggtagagCcgggcatggtggggctgaat	16	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:35095206C>T	uc003zwd.2	-	2	753	c.357G>A	c.(355-357)CGG>CGA	p.R119R	PIGO_uc003zwc.1_Silent_p.R119R|PIGO_uc003zwe.2_Silent_p.R119R|PIGO_uc003zwf.2_Silent_p.R119R|PIGO_uc003zwg.1_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	119					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATCGGTAGAGCCGGGCATGGT	0.567													T	35095206	C	T	35095206	2	4	104	1	0	0	0	0	0	0	0	1	11894	726	26	2		2	PIGO	9	35095206	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	888	35095206	106118225	3538	70152											
KIAA1539	80256	broad.mit.edu	37	chr9	35108146	35108146	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtagaccccgggggatgtCgccccccctgctgggctgta	15	14	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:35108146C>T	uc003zwl.2	-	3	451	c.126G>A	c.(124-126)GCG>GCA	p.A42A	KIAA1539_uc003zwm.2_Silent_p.A42A|KIAA1539_uc003zwn.2_5'UTR|KIAA1539_uc003zwo.2_Silent_p.A42A|KIAA1539_uc003zwp.1_Silent_p.A42A|KIAA1539_uc010mkk.1_RNA	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	42						nucleus				ovary(2)	2	all_epithelial(49;0.217)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CGGGGGATGTCGCCCCCCCTG	0.657													T	35108146	C	T	35108146	2	4	104	1	0	0	0	0	0	0	0	1	8242	871	31	1		1	KIAA1539	9	35108146	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	12940	35108146	106105285	3539	70153											
SPAG8	26206	broad.mit.edu	37	chr9	35808275	35808275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagggtgttcattcattccGcaaatgtttactgagtattc	8	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:35808275G>A	uc003zye.2	-	8	1516	c.1401C>T	c.(1399-1401)TGC>TGT	p.C467C	NPR2_uc003zyd.2_Intron|NPR2_uc010mlb.2_Intron	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	sperm associated antigen 8 isoform 2	Error:Variant_position_missing_in_Q99932_after_alignment						acrosomal vesicle|membrane				ovary(1)	1	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			cattcattccgcaaatgttta	0.328													A	35808275	G	A	35808275	2	1	104	1	0	0	0	0	0	0	0	1	14984	1079	38	1		1	SPAG8	9	35808275	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	700129	35808275	105405156	3540	70154											
MELK	9833	broad.mit.edu	37	chr9	36665442	36665442	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aataaattaaagaacaaagaAaatgtatatactcctaagtc	4	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:36665442A>C	uc003zzn.2	+	14	1410	c.1272A>C	c.(1270-1272)GAA>GAC	p.E424D	MELK_uc011lpm.1_Missense_Mutation_p.E293D|MELK_uc011lpn.1_Missense_Mutation_p.E383D|MELK_uc011lpo.1_Missense_Mutation_p.E230D|MELK_uc010mll.2_Missense_Mutation_p.E392D|MELK_uc011lpp.1_Missense_Mutation_p.E376D|MELK_uc010mlm.2_Missense_Mutation_p.E353D|MELK_uc011lpq.1_Missense_Mutation_p.E230D|MELK_uc011lpr.1_Missense_Mutation_p.E353D|MELK_uc011lps.1_Missense_Mutation_p.E344D	NM_014791	NP_055606	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	424						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			AGAACAAAGAAAATGTATATA	0.358													C	36665442	A	C	36665442	3	2	104	1	0	0	0	0	1	0	0	0	9470	11	1	5	1322	5	MELK	9	36665442	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	857167	36665442	104547989	3541	70155											
ZCCHC7	84186	broad.mit.edu	37	chr9	37356833	37356833	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacttttatatttttcagtActcaagaaaaatggggttat	6	4	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:37356833A>G	uc003zzq.2	+	9	1373	c.1200A>G	c.(1198-1200)GTA>GTG	p.V400V	ZCCHC7_uc011lqh.1_Silent_p.V110V|ZCCHC7_uc011lqi.1_Silent_p.V399V|ZCCHC7_uc010mlt.2_Silent_p.V399V	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	400							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(29;0.0137)		ATTTTTCAGTACTCAAGAAAA	0.393													G	37356833	A	G	37356833	2	3	104	1	0	0	0	0	0	0	0	1	17590	405	14	3		3	ZCCHC7	9	37356833	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	691391	37356833	103856598	3542	70156											
ZBTB5	9925	broad.mit.edu	37	chr9	37440877	37440877	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcattagctgagaactggTagagttttctgggatctgtg	12	6	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:37440877T>C	uc003zzx.2	-	2	1872	c.1672A>G	c.(1672-1674)ACC>GCC	p.T558A		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TGAGAACTGGTAGAGTTTTCT	0.517													C	37440877	T	C	37440877	3	2	104	1	0	0	0	0	1	0	0	0	17548	1638	57	3	365	3	ZBTB5	9	37440877	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	84044	37440877	103772554	3543	70157											
ZBTB5	9925	broad.mit.edu	37	chr9	37442225	37442225	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catgccttaacaacagagttCaaatgcaggtgagaggctgc	11	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:37442225C>A	uc003zzx.2	-	2	524	c.324G>T	c.(322-324)TTG>TTT	p.L108F		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CAACAGAGTTCAAATGCAGGT	0.522													A	37442225	C	A	37442225	3	1	104	1	0	0	0	0	1	0	0	0	17548	825	29	5	1713	5	ZBTB5	9	37442225	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1348	37442225	103771206	3544	70158											
POLR1E	64425	broad.mit.edu	37	chr9	37501836	37501836	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agggacttgaagctcagtgaGaaaaggtgagcacaacagaa	13	6	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:37501836G>T	uc003zzz.1	+	10	1569	c.1281G>T	c.(1279-1281)GAG>GAT	p.E427D	POLR1E_uc003zzy.1_Missense_Mutation_p.E365D|POLR1E_uc011lqk.1_Missense_Mutation_p.E294D	NM_022490	NP_071935	Q9GZS1	RPA49_HUMAN	RNA polymerase I associated factor 53	427					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding				0				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		AGCTCAGTGAGAAAAGGTGAG	0.463													T	37501836	G	T	37501836	3	4	104	1	0	0	0	0	1	0	0	0	12213	933	33	5	1137	5	POLR1E	9	37501836	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	59611	37501836	103711595	3545	70159											
FRMPD1	22844	broad.mit.edu	37	chr9	37740573	37740573	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtgctgctttggagacatTtggctgggcaccagaactga	14	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:37740573T>G	uc004aag.1	+	15	2092	c.2048T>G	c.(2047-2049)TTT>TGT	p.F683C	FRMPD1_uc004aah.1_Missense_Mutation_p.F683C|FRMPD1_uc011lqm.1_Missense_Mutation_p.F505C|FRMPD1_uc011lqn.1_Missense_Mutation_p.F552C	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	683						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		TTGGAGACATTTGGCTGGGCA	0.582													G	37740573	T	G	37740573	3	3	104	1	0	0	0	0	1	0	0	0	6057	1841	64	5	2102	5	FRMPD1	9	37740573	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	238737	37740573	103472858	3546	70160											
FRMPD1	22844	broad.mit.edu	37	chr9	37744622	37744622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctccctggagagtgtagacGacgtgtgctactatgacagg	13	10	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:37744622G>A	uc004aag.1	+	16	2637	c.2593G>A	c.(2593-2595)GAC>AAC	p.D865N	FRMPD1_uc004aah.1_Missense_Mutation_p.D865N	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	865						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		GAGTGTAGACGACGTGTGCTA	0.577													A	37744622	G	A	37744622	3	1	104	1	0	0	0	0	1	0	0	0	6057	1058	37	1	2651	1	FRMPD1	9	37744622	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4049	37744622	103468809	3547	70161											
RG9MTD3	158234	broad.mit.edu	37	chr9	37769953	37769953	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccagttagacataacagaaGaagactgctttagtttattt	7	6	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:37769953G>A	uc004aai.2	+	6	666	c.589G>A	c.(589-591)GAA>AAA	p.E197K	RG9MTD3_uc011lqo.1_Missense_Mutation_p.E146K|RG9MTD3_uc011lqp.1_Missense_Mutation_p.E119K|RG9MTD3_uc011lqq.1_Missense_Mutation_p.E86K|RG9MTD3_uc004aaj.2_RNA|RG9MTD3_uc004aak.2_Missense_Mutation_p.E102K	NM_144964	NP_659401	Q6PF06	RG9D3_HUMAN	RNA (guanine-9-) methyltransferase domain	197							methyltransferase activity				0				GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226)		CATAACAGAAGAAGACTGCTT	0.313													A	37769953	G	A	37769953	3	1	104	1	0	0	0	0	1	0	0	0	13273	943	33	4	607	4	RG9MTD3	9	37769953	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	25331	37769953	103443478	3548	70162											
CBWD6	644019	broad.mit.edu	37	chr9	69205480	69205480	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaggaccaatcgatttgttCtctcagtgtcatccttccag	8	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:69205480C>A	uc004afj.3	-	14	1164	c.1058G>T	c.(1057-1059)AGA>ATA	p.R353I	CBWD6_uc004afk.3_RNA|CBWD6_uc011lrf.1_RNA	NM_001085457	NP_001078926	Q4V339	CBWD6_HUMAN	COBW domain containing 6	353	CobW C-terminal.						ATP binding				0						TCGATTTGTTCTCTCAGTGTC	0.408													A	69205480	C	A	69205480	3	1	104	1	0	0	0	0	1	0	0	0	2716	913	32	5	137	5	CBWD6	9	69205480	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	31435527	69205480	72007951	3549	70163											
PGM5	5239	broad.mit.edu	37	chr9	71114209	71114209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagttcctccagtggtgtgCgggccaccctcagactgtac	11	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:71114209C>T	uc004agr.2	+	10	1775	c.1546C>T	c.(1546-1548)CGG>TGG	p.R516W		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	516					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						CAGTGGTGTGCGGGCCACCCT	0.572													T	71114209	C	T	71114209	3	4	104	1	0	0	0	0	1	0	0	0	11801	759	27	1	1584	1	PGM5	9	71114209	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1908729	71114209	70099222	3550	70164											
FAM122A	116224	broad.mit.edu	37	chr9	71395903	71395903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtcacctgcccaagcgGcttctccatttattccacta	6	15	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:71395903G>A	uc004agw.1	+	1	940	c.823G>A	c.(823-825)GCT>ACT	p.A275T	PIP5K1B_uc004agu.2_Intron|PIP5K1B_uc011lrq.1_Intron|PIP5K1B_uc004agv.2_Intron	NM_138333	NP_612206	Q96E09	F122A_HUMAN	hypothetical protein LOC116224	275											0						TGCCCAAGCGGCTTCTCCATT	0.478													A	71395903	G	A	71395903	3	1	104	1	0	0	0	0	1	0	0	0	5419	1203	42	2	825	2	FAM122A	9	71395903	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	281694	71395903	69817528	3551	70165											
APBA1	320	broad.mit.edu	37	chr9	72131279	72131279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgccttgtcgaggctctgcGagctcatgctctgcttcacc	10	15	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:72131279G>A	uc004ahh.2	-	2	1124	c.848C>T	c.(847-849)TCG>TTG	p.S283L		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	283	Munc-18-1 binding.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						GAGGCTCTGCGAGCTCATGCT	0.532													A	72131279	G	A	72131279	3	1	104	1	0	0	0	0	1	0	0	0	756	1059	37	1	1713	1	APBA1	9	72131279	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	735376	72131279	69082152	3552	70166											
SMC5	23137	broad.mit.edu	37	chr9	72893538	72893538	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggagaaagaaaaacagctCgaggtactttaaatagacaa	10	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:72893538C>T	uc004ahr.2	+	5	792	c.675C>T	c.(673-675)CTC>CTT	p.L225L		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	225	Potential.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						AAAAACAGCTCGAGGTACTTT	0.358													T	72893538	C	T	72893538	2	4	104	1	0	0	0	0	0	0	0	1	14786	871	31	1		1	SMC5	9	72893538	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	762259	72893538	68319893	3553	70167											
SMC5	23137	broad.mit.edu	37	chr9	72962937	72962937	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtgtgctggtgaagttgatCtccatacagaaaatgaggta	12	5	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:72962937C>T	uc004ahr.2	+	22	2989	c.2872C>T	c.(2872-2874)CTC>TTC	p.L958F	SMC5_uc011lry.1_Missense_Mutation_p.L103F	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	958					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						TGAAGTTGATCTCCATACAGA	0.259													T	72962937	C	T	72962937	3	4	104	1	0	0	0	0	1	0	0	0	14786	913	32	4	2958	4	SMC5	9	72962937	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	69399	72962937	68250494	3554	70168											
SMC5	23137	broad.mit.edu	37	chr9	72965072	72965072	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcgaattagagtcaaatttCgaagtagtactcaactgcat	7	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:72965072C>T	uc004ahr.2	+	23	3049	c.2932C>T	c.(2932-2934)CGA>TGA	p.R978*	SMC5_uc011lry.1_Nonsense_Mutation_p.R123*	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	978					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						AGTCAAATTTCGAAGTAGTAC	0.323													T	72965072	C	T	72965072	4	4	104	1	0	0	0	0	0	1	0	0	14786	876	31	1	3022	1	SMC5	9	72965072	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2135	72965072	68248359	3555	70169											
TRPM3	80036	broad.mit.edu	37	chr9	73442905	73442905	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtgagcttgctcatgggAttggacatggtctggtatgg	15	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:73442905A>C	uc004aid.2	-	6	1075	c.831T>G	c.(829-831)AAT>AAG	p.N277K	TRPM3_uc004ahu.2_Missense_Mutation_p.N107K|TRPM3_uc004ahv.2_Missense_Mutation_p.N107K|TRPM3_uc004ahw.2_Missense_Mutation_p.N124K|TRPM3_uc004ahx.2_Missense_Mutation_p.N124K|TRPM3_uc004ahy.2_Missense_Mutation_p.N124K|TRPM3_uc004ahz.2_Missense_Mutation_p.N124K|TRPM3_uc004aia.2_Missense_Mutation_p.N124K|TRPM3_uc004aib.2_Missense_Mutation_p.N124K|TRPM3_uc004aic.2_Missense_Mutation_p.N277K|TRPM3_uc010mor.2_Missense_Mutation_p.N277K|TRPM3_uc004aie.2_Missense_Mutation_p.N124K|TRPM3_uc004aif.2_Missense_Mutation_p.N124K|TRPM3_uc004aig.2_Missense_Mutation_p.N124K|TRPM3_uc004aii.2_Missense_Mutation_p.N279K	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	277	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						TGCTCATGGGATTGGACATGG	0.463													C	73442905	A	C	73442905	3	2	104	1	0	0	0	0	1	0	0	0	16584	330	12	5	4495	5	TRPM3	9	73442905	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	477833	73442905	67770526	3556	70170											
TMEM2	23670	broad.mit.edu	37	chr9	74349809	74349809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggaatagtctgtgcttgCgaccacaatctggtctccag	10	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:74349809C>T	uc011lsa.1	-	6	1846	c.1306G>A	c.(1306-1308)GCA>ACA	p.A436T	TMEM2_uc010mos.2_Intron|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	436						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TCTGTGCTTGCGACCACAATC	0.438													T	74349809	C	T	74349809	3	4	104	1	0	0	0	0	1	0	0	0	16118	768	27	1	2921	1	TMEM2	9	74349809	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	906904	74349809	66863622	3557	70171											
TMC1	117531	broad.mit.edu	37	chr9	75420302	75420302	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gataatatctcaacaggagtTtgtgaggctgacagtctctg	11	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:75420302T>G	uc004aiz.1	+	18	2111	c.1571T>G	c.(1570-1572)TTT>TGT	p.F524C	TMC1_uc010moz.1_Missense_Mutation_p.F482C|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.F378C|TMC1_uc010mpa.1_Missense_Mutation_p.F378C	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	524	Cytoplasmic (Potential).				sensory perception of sound	integral to membrane				ovary(1)	1						CAACAGGAGTTTGTGAGGCTG	0.393													G	75420302	T	G	75420302	3	3	104	1	0	0	0	0	1	0	0	0	15981	1841	64	5	1625	5	TMC1	9	75420302	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1070493	75420302	65793129	3558	70172											
TRPM6	140803	broad.mit.edu	37	chr9	77362808	77362808	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taaacagaaaaacttactgtCaactccaattgaacttttca	3	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:77362808C>A	uc004ajl.1	-	31	5318	c.5080G>T	c.(5080-5082)GAC>TAC	p.D1694Y	TRPM6_uc004ajk.1_Missense_Mutation_p.D1689Y|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.D645Y|TRPM6_uc010mpd.1_Missense_Mutation_p.D527Y|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.D650Y	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1694	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						AACTTACTGTCAACTCCAATT	0.284													A	77362808	C	A	77362808	3	1	104	1	0	0	0	0	1	0	0	0	16587	826	29	5	1024	5	TRPM6	9	77362808	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1942506	77362808	63850623	3559	70173											
TRPM6	140803	broad.mit.edu	37	chr9	77377203	77377203	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatgctaaacacaccagtttCatcaccttctgaaaatgccc	5	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:77377203C>A	uc004ajl.1	-	26	4622	c.4384G>T	c.(4384-4386)GAA>TAA	p.E1462*	TRPM6_uc004ajk.1_Nonsense_Mutation_p.E1457*|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Nonsense_Mutation_p.E418*	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1462	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						ACACCAGTTTCATCACCTTCT	0.488													A	77377203	C	A	77377203	4	1	104	1	0	0	0	0	0	1	0	0	16587	835	29	5	1740	5	TRPM6	9	77377203	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	14395	77377203	63836228	3560	70174											
VPS13A	23230	broad.mit.edu	37	chr9	79875040	79875040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttacctcttatttctttacGaatctcagataaaaaactac	3	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:79875040G>A	uc004akr.2	+	23	2587	c.2327G>A	c.(2326-2328)CGA>CAA	p.R776Q	VPS13A_uc004akp.3_Missense_Mutation_p.R776Q|VPS13A_uc004akq.3_Missense_Mutation_p.R776Q|VPS13A_uc004aks.2_Missense_Mutation_p.R776Q	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	776					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						ATTTCTTTACGAATCTCAGAT	0.303													A	79875040	G	A	79875040	3	1	104	1	0	0	0	0	1	0	0	0	17186	1058	37	1	2417	1	VPS13A	9	79875040	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2497837	79875040	61338391	3561	70175											
VPS13A	23230	broad.mit.edu	37	chr9	79908403	79908403	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attgaagtagtttttgtcacGaaatttctatattctatatt	5	4	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:79908403G>A	uc004akr.2	+	32	3746	c.3486G>A	c.(3484-3486)ACG>ACA	p.T1162T	VPS13A_uc004akp.3_Silent_p.T1162T|VPS13A_uc004akq.3_Silent_p.T1162T|VPS13A_uc004aks.2_Silent_p.T1123T|VPS13A_uc010mpo.1_5'UTR	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	1162					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						TTTTTGTCACGAAATTTCTAT	0.279													A	79908403	G	A	79908403	2	1	104	1	0	0	0	0	0	0	0	1	17186	1045	37	1		1	VPS13A	9	79908403	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	33363	79908403	61305028	3562	70176											
VPS13A	23230	broad.mit.edu	37	chr9	79952328	79952328	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattaatattgttccagaaAaagataatttaacatctcta	3	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:79952328A>C	uc004akr.2	+	47	6513	c.6253A>C	c.(6253-6255)AAA>CAA	p.K2085Q	VPS13A_uc004akp.3_Missense_Mutation_p.K2085Q|VPS13A_uc004akq.3_Missense_Mutation_p.K2085Q|VPS13A_uc004aks.2_Missense_Mutation_p.K2046Q|VPS13A_uc004akt.2_Missense_Mutation_p.K425Q	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2085					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						TGTTCCAGAAAAAGATAATTT	0.333													C	79952328	A	C	79952328	3	2	104	1	0	0	0	0	1	0	0	0	17186	15	1	5	6439	5	VPS13A	9	79952328	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	43925	79952328	61261103	3563	70177											
GNA14	9630	broad.mit.edu	37	chr9	80043929	80043929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccacttccgtctttccgatCgttggccaccaacatccacc	5	18	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:80043929C>T	uc004aku.2	-	5	1140	c.617G>A	c.(616-618)CGA>CAA	p.R206Q		NM_004297	NP_004288	O95837	GNA14_HUMAN	G alpha 14	206					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(2)	2						TCTTTCCGATCGTTGGCCACC	0.453													T	80043929	C	T	80043929	3	4	104	1	0	0	0	0	1	0	0	0	6502	884	31	1	462	1	GNA14	9	80043929	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	91601	80043929	61169502	3564	70178											
CEP78	84131	broad.mit.edu	37	chr9	80863264	80863264	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaatggaaggagtgccaAatcagaggtatatcatgttt	11	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:80863264A>C	uc004akx.2	+	7	1226	c.950A>C	c.(949-951)AAA>ACA	p.K317T	CEP78_uc004aky.3_Missense_Mutation_p.K317T|CEP78_uc010mpp.2_Missense_Mutation_p.K317T|CEP78_uc011lsp.1_Missense_Mutation_p.K230T	NM_032171	NP_115547	Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa isoform b	317					G2/M transition of mitotic cell cycle	centrosome|cytosol				ovary(1)	1						AGGAGTGCCAAATCAGAGGTA	0.224													C	80863264	A	C	80863264	3	2	104	1	0	0	0	0	1	0	0	0	3262	14	1	5	976	5	CEP78	9	80863264	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	819335	80863264	60350167	3565	70179											
FLJ46321	389763	broad.mit.edu	37	chr9	84607583	84607583	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaattcatggaccgttaaAtatctctttggttgagggtc	11	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:84607583A>C	uc004amn.2	+	4	2245	c.2198A>C	c.(2197-2199)AAT>ACT	p.N733T		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	733						integral to membrane					0						GGACCGTTAAATATCTCTTTG	0.473													C	84607583	A	C	84607583	3	2	104	1	0	0	0	0	1	0	0	0	5932	101	4	5	2212	5	FLJ46321	9	84607583	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	3744319	84607583	56605848	3566	70180											
FLJ46321	389763	broad.mit.edu	37	chr9	84608292	84608292	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccgtagtcgaagcactttTcaaggagaaaagttgggaac	11	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:84608292T>C	uc004amn.2	+	4	2954	c.2907T>C	c.(2905-2907)TTT>TTC	p.F969F		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	969						integral to membrane					0						GAAGCACTTTTCAAGGAGAAA	0.527													C	84608292	T	C	84608292	2	2	104	1	0	0	0	0	0	0	0	1	5932	1780	62	3		3	FLJ46321	9	84608292	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	709	84608292	56605139	3567	70181											
RASEF	158158	broad.mit.edu	37	chr9	85630729	85630729	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacatgcctacctttcttagCtttttaatggtcacctgcag	6	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:85630729C>A	uc004amo.1	-	4	1017	c.756G>T	c.(754-756)AAG>AAT	p.K252N		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	252	Potential.				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						CCTTTCTTAGCTTTTTAATGG	0.428													A	85630729	C	A	85630729	3	1	104	1	0	0	0	0	1	0	0	0	13068	796	28	5	1522	5	RASEF	9	85630729	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1022437	85630729	55582702	3568	70182											
C9orf64	84267	broad.mit.edu	37	chr9	86571085	86571085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtatggcaccaaccttcgtCgagggctctgttgacggcgg	14	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:86571085C>T	uc004anb.2	-	1	579	c.331G>A	c.(331-333)GAC>AAC	p.D111N	C9orf64_uc004anc.2_5'UTR	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	hypothetical protein LOC84267	111											0						CAACCTTCGTCGAGGGCTCTG	0.562													T	86571085	C	T	86571085	3	4	104	1	0	0	0	0	1	0	0	0	2489	884	31	1	710	1	C9orf64	9	86571085	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	940356	86571085	54642346	3569	70183											
RMI1	80010	broad.mit.edu	37	chr9	86617293	86617293	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttctaatgaaaatgattgTaatttacagagttgttcttt	6	3	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:86617293T>G	uc004anq.3	+	3	1800	c.1392T>G	c.(1390-1392)TGT>TGG	p.C464W	RMI1_uc004anr.3_Missense_Mutation_p.C464W|RMI1_uc004anp.3_Missense_Mutation_p.C464W|RMI1_uc004ans.3_Missense_Mutation_p.C464W	NM_024945	NP_079221	Q9H9A7	RMI1_HUMAN	RMI1, RecQ mediated genome instability 1,	464					DNA replication	nucleus					0						AAAATGATTGTAATTTACAGA	0.303													G	86617293	T	G	86617293	3	3	104	1	0	0	0	0	1	0	0	0	13395	1644	57	5	1394	5	RMI1	9	86617293	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	46208	86617293	54596138	3570	70184											
SLC28A3	64078	broad.mit.edu	37	chr9	86928299	86928299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtttgtgtgctccctgCtttgcacagctctgcttctt	10	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:86928299C>T	uc010mpz.2	-	2	256	c.131G>A	c.(130-132)AGC>AAC	p.S44N	SLC28A3_uc011lsy.1_5'UTR|SLC28A3_uc004anu.1_Missense_Mutation_p.S44N|SLC28A3_uc010mqb.2_5'UTR	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN	concentrative Na+-nucleoside cotransporter	44	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						GTGCTCCCTGCTTTGCACAGC	0.448													T	86928299	C	T	86928299	3	4	104	1	0	0	0	0	1	0	0	0	14533	797	28	2	2012	2	SLC28A3	9	86928299	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	311006	86928299	54285132	3571	70185											
NTRK2	4915	broad.mit.edu	37	chr9	87339221	87339221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcagatctcttgtgtggCggaaaatcttgtaggagaag	14	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:87339221C>T	uc004aoa.1	+	10	1741	c.803C>T	c.(802-804)GCG>GTG	p.A268V	NTRK2_uc004anv.1_Missense_Mutation_p.A268V|NTRK2_uc004any.1_Missense_Mutation_p.A268V|NTRK2_uc004anz.1_Missense_Mutation_p.A268V|NTRK2_uc011lsz.1_Missense_Mutation_p.A268V|NTRK2_uc011lta.1_Missense_Mutation_p.A268V|NTRK2_uc004aob.1_Missense_Mutation_p.A268V|NTRK2_uc011ltb.1_Missense_Mutation_p.A112V	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	268	Extracellular (Potential).|Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						TCTTGTGTGGCGGAAAATCTT	0.408										TSP Lung(25;0.17)			T	87339221	C	T	87339221	3	4	104	1	0	0	0	0	1	0	0	0	10707	768	27	1	829	1	NTRK2	9	87339221	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	410922	87339221	53874210	3572	70186											
GOLM1	51280	broad.mit.edu	37	chr9	88650485	88650485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcccggcctggctcctgCggcagcctgtccctctgagg	13	17	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:88650485C>T	uc004aol.2	-	8	1011	c.813G>A	c.(811-813)CCG>CCA	p.P271P	GOLM1_uc004aom.2_Silent_p.P271P	NM_016548	NP_057632	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	271	Lumenal (Potential).					Golgi apparatus|integral to plasma membrane					0						CTGGCTCCTGCGGCAGCCTGT	0.597											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	88650485	C	T	88650485	2	4	104	1	0	0	0	0	0	0	0	1	6567	755	27	1		1	GOLM1	9	88650485	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1311264	88650485	52562946	3573	70187											
ZCCHC6	79670	broad.mit.edu	37	chr9	88924147	88924147	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttcatctatttgatcaaAaaaataaatattccagccat	3	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:88924147A>C	uc004aoq.2	-	21	3855	c.3640T>G	c.(3640-3642)TTT>GTT	p.F1214V	ZCCHC6_uc010mqe.2_Missense_Mutation_p.F114V|ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.F978V|ZCCHC6_uc004aou.2_Missense_Mutation_p.F1214V	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1214					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						ATTTGATCAAAAAAATAAATA	0.259													C	88924147	A	C	88924147	3	2	104	1	0	0	0	0	1	0	0	0	17589	14	1	5	875	5	ZCCHC6	9	88924147	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	273662	88924147	52289284	3574	70188											
DAPK1	1612	broad.mit.edu	37	chr9	90264928	90264928	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggctgtaacgtgaacatcaaGaaccgagaaggagagacgcc	13	9	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:90264928G>T	uc004apc.2	+	16	1659	c.1521G>T	c.(1519-1521)AAG>AAT	p.K507N	DAPK1_uc004ape.2_Missense_Mutation_p.K507N|DAPK1_uc004apd.2_Missense_Mutation_p.K507N|DAPK1_uc011ltg.1_Missense_Mutation_p.K507N|DAPK1_uc011lth.1_Missense_Mutation_p.K244N|DAPK1_uc004apf.1_Missense_Mutation_p.K61N	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	507					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						TGAACATCAAGAACCGAGAAG	0.577									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				T	90264928	G	T	90264928	3	4	104	1	0	0	0	0	1	0	0	0	4235	933	33	5	1579	5	DAPK1	9	90264928	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1340781	90264928	50948503	3575	70189											
C9orf79	286234	broad.mit.edu	37	chr9	90500035	90500035	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgatgaccttctcagaGccttttggaccacactcaac	8	15	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:90500035G>A	uc004app.3	+	4	668	c.633G>A	c.(631-633)GAG>GAA	p.E211E	C9orf79_uc004apo.1_Intron	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	211	Pro-rich.					integral to membrane				ovary(3)	3						CCTTCTCAGAGCCTTTTGGAC	0.597													A	90500035	G	A	90500035	2	1	104	1	0	0	0	0	0	0	0	1	2497	962	34	2		2	C9orf79	9	90500035	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	235107	90500035	50713396	3576	70190											
C9orf79	286234	broad.mit.edu	37	chr9	90501322	90501322	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccatccaccaggagcagtcCtgtggccctcccagcagatt	10	16	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:90501322C>A	uc004app.3	+	4	1955	c.1920C>A	c.(1918-1920)TCC>TCA	p.S640S	C9orf79_uc004apo.1_Silent_p.S452S	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	640						integral to membrane				ovary(3)	3						AGGAGCAGTCCTGTGGCCCTC	0.637													A	90501322	C	A	90501322	2	1	104	1	0	0	0	0	0	0	0	1	2497	668	24	5		5	C9orf79	9	90501322	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1287	90501322	50712109	3577	70191											
SPIN1	10927	broad.mit.edu	37	chr9	91041483	91041483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccattcggaaagacacctgGccagcggtccagagctgatg	12	13	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:91041483G>A	uc010mqj.2	+	2	529	c.29G>A	c.(28-30)GGC>GAC	p.G10D	SPIN1_uc004apy.2_Missense_Mutation_p.G10D|SPIN1_uc004apz.2_Missense_Mutation_p.G10D|SPIN1_uc010mqk.2_Missense_Mutation_p.G10D	NM_006717	NP_006708	Q9Y657	SPIN1_HUMAN	spindlin	10					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding				0						AAGACACCTGGCCAGCGGTCC	0.388													A	91041483	G	A	91041483	3	1	104	1	0	0	0	0	1	0	0	0	15051	1203	42	2	31	2	SPIN1	9	91041483	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	540161	91041483	50171948	3578	70192											
CKS2	1164	broad.mit.edu	37	chr9	91930195	91930195	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtctaggctgggttcattAcatgattcatgagccaggta	12	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:91930195A>G	uc004aqh.2	+	2	265	c.170A>G	c.(169-171)TAC>TGC	p.Y57C		NM_001827	NP_001818	P33552	CKS2_HUMAN	CDC28 protein kinase 2	57					cell division|cell proliferation|phosphatidylinositol-mediated signaling|regulation of cyclin-dependent protein kinase activity|spindle organization		cyclin-dependent protein kinase regulator activity				0						TGGGTTCATTACATGATTCAT	0.373													G	91930195	A	G	91930195	3	3	104	1	0	0	0	0	1	0	0	0	3453	391	14	3	176	3	CKS2	9	91930195	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	888712	91930195	49283236	3579	70193											
SEMA4D	10507	broad.mit.edu	37	chr9	91994492	91994492	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgggagcatttcagttcCgctgtgccaccgtgcttgaa	11	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:91994492C>T	uc004aqo.1	-	18	2288	c.1716G>A	c.(1714-1716)GCG>GCA	p.A572A	SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Silent_p.A570A	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	572	Ig-like C2-type.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						ATTTCAGTTCCGCTGTGCCAC	0.488													T	91994492	C	T	91994492	2	4	104	1	0	0	0	0	0	0	0	1	14034	639	23	1		1	SEMA4D	9	91994492	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	64297	91994492	49218939	3580	70194											
NFIL3	4783	broad.mit.edu	37	chr9	94171887	94171887	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcactgagaaaggagtaagaGaagaatgtaccatacttggg	13	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:94171887G>A	uc004arh.2	-	2	1525	c.1130C>T	c.(1129-1131)TCT>TTT	p.S377F		NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	377					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						AGGAGTAAGAGAAGAATGTAC	0.408													A	94171887	G	A	94171887	3	1	104	1	0	0	0	0	1	0	0	0	10373	942	33	4	262	4	NFIL3	9	94171887	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2177395	94171887	47041544	3581	70195											
ROR2	4920	broad.mit.edu	37	chr9	94486891	94486891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaagtctgagatcttcaCgttcagcttgtcgtacacta	8	12	4	1	rs148844963	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:94486891C>T	uc004arj.1	-	9	2084	c.1885G>A	c.(1885-1887)GTG>ATG	p.V629M	ROR2_uc004ari.1_Missense_Mutation_p.V489M	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	629	Cytoplasmic (Potential).|Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						GAGATCTTCACGTTCAGCTTG	0.587													T	94486891	C	T	94486891	3	4	104	1	0	0	0	0	1	0	0	0	13527	536	19	1	950	1	ROR2	9	94486891	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	315004	94486891	46726540	3582	70196											
IARS	3376	broad.mit.edu	37	chr9	95025292	95025292	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaattacgttcttgaaaggCggttgtccaaagagggccgt	12	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:95025292C>T	uc004art.1	-	17	2003	c.1746G>A	c.(1744-1746)CCG>CCA	p.P582P	IARS_uc004ars.1_Silent_p.P427P|IARS_uc004aru.3_Silent_p.P582P|IARS_uc010mqr.2_Silent_p.P472P|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	582					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)	TCTTGAAAGGCGGTTGTCCAA	0.443													T	95025292	C	T	95025292	2	4	104	1	0	0	0	0	0	0	0	1	7473	755	27	1		1	IARS	9	95025292	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	538401	95025292	46188139	3583	70197											
OMD	4958	broad.mit.edu	37	chr9	95177490	95177490	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccttctgctccttcttgttCtgggctctcatgagcattgt	8	13	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:95177490C>A	uc004asd.3	-	3	1579	c.1210G>T	c.(1210-1212)GAA>TAA	p.E404*	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron	NM_005014	NP_005005	Q99983	OMD_HUMAN	osteomodulin precursor	404	Asp/Glu-rich (acidic).				cell adhesion	proteinaceous extracellular matrix				ovary(2)	2						CCTTCTTGTTCTGGGCTCTCA	0.368			T	USP6	aneurysmal bone cysts								A	95177490	C	A	95177490	4	1	104	1	0	0	0	0	0	1	0	0	10865	922	32	5	59	5	OMD	9	95177490	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	152198	95177490	46035941	3584	70198											
ASPN	54829	broad.mit.edu	37	chr9	95222031	95222031	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccattttcgatatctgtgatTttgttgtttcctaggcccag	8	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:95222031T>G	uc004ase.1	-	7	1072	c.828A>C	c.(826-828)AAA>AAC	p.K276N	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ASPN_uc010mqy.1_Intron	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN	asporin precursor	276	LRR 7.				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding				0						TATCTGTGATTTTGTTGTTTC	0.303													G	95222031	T	G	95222031	3	3	104	1	0	0	0	0	1	0	0	0	1057	1838	64	5	322	5	ASPN	9	95222031	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	44541	95222031	45991400	3585	70199											
ECM2	1842	broad.mit.edu	37	chr9	95263202	95263202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caagtattccaggcctggttCcatgtggccaaacacatagc	9	12	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:95263202C>T	uc004ash.2	-	9	1803	c.1738G>A	c.(1738-1740)GAA>AAA	p.E580K	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.E558K|ECM2_uc011lty.1_Missense_Mutation_p.E580K|ECM2_uc004asg.2_Missense_Mutation_p.E558K|ECM2_uc010mqz.1_Missense_Mutation_p.E2K	NM_001393	NP_001384	O94769	ECM2_HUMAN	extracellular matrix protein 2 precursor	580					cell-matrix adhesion		integrin binding			ovary(1)|skin(1)	2						AGGCCTGGTTCCATGTGGCCA	0.488													T	95263202	C	T	95263202	3	4	104	1	0	0	0	0	1	0	0	0	4898	864	30	4	369	4	ECM2	9	95263202	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	41171	95263202	45950229	3586	70200											
FGD3	89846	broad.mit.edu	37	chr9	95738699	95738699	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcctggctgcagcaggggAcggctctccagacataggcc	14	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:95738699A>G	uc004asw.2	+	3	789	c.161A>G	c.(160-162)GAC>GGC	p.D54G	FGD3_uc004asx.2_Missense_Mutation_p.D54G|FGD3_uc004asz.2_Missense_Mutation_p.D54G	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	54					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						GCAGCAGGGGACGGCTCTCCA	0.647													G	95738699	A	G	95738699	3	3	104	1	0	0	0	0	1	0	0	0	5834	275	10	3	163	3	FGD3	9	95738699	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	475497	95738699	45474732	3587	70201											
ZNF169	169841	broad.mit.edu	37	chr9	97062108	97062108	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctctagcagagcctagaacaGaattccagccaagttttccc	7	13	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:97062108G>T	uc004aum.1	+	5	373	c.268G>T	c.(268-270)GAA>TAA	p.E90*		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	90						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				GCCTAGAACAGAATTCCAGCC	0.493													T	97062108	G	T	97062108	4	4	104	1	0	0	0	0	0	1	0	0	17739	943	33	5	282	5	ZNF169	9	97062108	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1323409	97062108	44151323	3588	70202											
HIATL1	84641	broad.mit.edu	37	chr9	97209126	97209126	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgttgaagaaagttggaaaaGattctactgtcttactaatc	8	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:97209126G>T	uc004aur.2	+	7	1020	c.751G>T	c.(751-753)GAT>TAT	p.D251Y	HIATL1_uc011luh.1_Missense_Mutation_p.D186Y	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	251	Extracellular (Potential).				transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				AGTTGGAAAAGATTCTACTGT	0.383													T	97209126	G	T	97209126	3	4	104	1	0	0	0	0	1	0	0	0	7098	942	33	5	777	5	HIATL1	9	97209126	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	147018	97209126	44004305	3589	70203											
C9orf102	375748	broad.mit.edu	37	chr9	98685559	98685559	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggaaacacttatcaaaagGatatgtgatcaggtattttc	8	5	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:98685559G>A	uc004avt.3	+	9	1852	c.1464G>A	c.(1462-1464)AGG>AGA	p.R488R	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Silent_p.R190R|C9orf102_uc010mry.1_Silent_p.R190R|C9orf102_uc010mrz.2_Silent_p.R299R|C9orf102_uc004avu.2_5'UTR	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	488					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				TTATCAAAAGGATATGTGATC	0.323													A	98685559	G	A	98685559	2	1	104	1	0	0	0	0	0	0	0	1	2445	1165	41	4		4	C9orf102	9	98685559	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1476433	98685559	42527872	3590	70204											
CDC14B	8555	broad.mit.edu	37	chr9	99271994	99271994	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgaagcagatctggtggttCttttagtaatgcctgcactg	11	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:99271994C>A	uc004awj.2	-	13	1873	c.1421G>T	c.(1420-1422)AGA>ATA	p.R474I	CDC14B_uc004awk.2_Intron|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Missense_Mutation_p.R437I	NM_033331	NP_201588	O60729	CC14B_HUMAN	CDC14 homolog B isoform 2	474					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TCTGGTGGTTCTTTTAGTAAT	0.353													A	99271994	C	A	99271994	3	1	104	1	0	0	0	0	1	0	0	0	3057	913	32	5	83	5	CDC14B	9	99271994	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	586435	99271994	41941437	3591	70205											
CDC14B	8555	broad.mit.edu	37	chr9	99285665	99285665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcccctttaacttctgacGaaaatagtccccttccagcc	5	16	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:99285665G>A	uc004awj.2	-	11	1575	c.1123C>T	c.(1123-1125)CGT>TGT	p.R375C	CDC14B_uc004awk.2_Missense_Mutation_p.R375C|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Missense_Mutation_p.R338C	NM_033331	NP_201588	O60729	CC14B_HUMAN	CDC14 homolog B isoform 2	375	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				AACTTCTGACGAAAATAGTCC	0.428													A	99285665	G	A	99285665	3	1	104	1	0	0	0	0	1	0	0	0	3057	1058	37	1	389	1	CDC14B	9	99285665	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13671	99285665	41927766	3592	70206											
ZNF510	22869	broad.mit.edu	37	chr9	99521253	99521253	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctcccctgtgtgaattCtctgatgatcactaaggatt	8	9	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:99521253C>A	uc004awn.1	-	6	2048	c.1859G>T	c.(1858-1860)AGA>ATA	p.R620I	ZNF510_uc004awo.1_Missense_Mutation_p.R620I	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	620	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				TGTGTGAATTCTCTGATGATC	0.408													A	99521253	C	A	99521253	3	1	104	1	0	0	0	0	1	0	0	0	17951	913	32	5	196	5	ZNF510	9	99521253	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	235588	99521253	41692178	3593	70207											
ZNF782	158431	broad.mit.edu	37	chr9	99580766	99580766	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgacttcagtttgaaagcTttcccacattcatcacattt	4	12	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:99580766T>G	uc004awp.1	-	6	1820	c.1539A>C	c.(1537-1539)AAA>AAC	p.K513N	ZNF782_uc011lup.1_Missense_Mutation_p.K381N	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	513	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				GTTTGAAAGCTTTCCCACATT	0.433													G	99580766	T	G	99580766	3	3	104	1	0	0	0	0	1	0	0	0	18152	1606	56	5	564	5	ZNF782	9	99580766	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	59513	99580766	41632665	3594	70208											
ZNF782	158431	broad.mit.edu	37	chr9	99581316	99581316	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atttatctgttgcatgagttCtctgatgcactgggagggtt	12	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:99581316C>A	uc004awp.1	-	6	1270	c.989G>T	c.(988-990)AGA>ATA	p.R330I	ZNF782_uc011lup.1_Missense_Mutation_p.R198I	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	330	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				TGCATGAGTTCTCTGATGCAC	0.398													A	99581316	C	A	99581316	3	1	104	1	0	0	0	0	1	0	0	0	18152	913	32	5	1114	5	ZNF782	9	99581316	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	550	99581316	41632115	3595	70209											
KIAA1529	57653	broad.mit.edu	37	chr9	100056271	100056271	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactttctgttcttctacaaCgtgctgctgggcctgggtgc	11	11	3	0	rs148564841		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:100056271C>T	uc011lut.1	+	11	902	c.129C>T	c.(127-129)AAC>AAT	p.N43N	KIAA1529_uc011lur.1_RNA|KIAA1529_uc004axe.1_Silent_p.N43N|KIAA1529_uc011lus.1_Intron|KIAA1529_uc010msm.1_RNA	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				TCTTCTACAACGTGCTGCTGG	0.542													T	100056271	C	T	100056271	2	4	104	1	0	0	0	0	0	0	0	1	8240	535	19	1		1	KIAA1529	9	100056271	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	474955	100056271	41157160	3596	70210											
TDRD7	23424	broad.mit.edu	37	chr9	100257990	100257990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaggcttctatggtgtttcGaaatcatgtggagaagaaac	13	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:100257990G>A	uc004axj.2	+	17	3347	c.3122G>A	c.(3121-3123)CGA>CAA	p.R1041Q	TDRD7_uc011lux.1_Missense_Mutation_p.R967Q|TDRD7_uc011luy.1_Missense_Mutation_p.R361Q	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	1041	Interacts with CDK17 (By similarity).|Interacts with CABLES1 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)				ATGGTGTTTCGAAATCATGTG	0.488													A	100257990	G	A	100257990	3	1	104	1	0	0	0	0	1	0	0	0	15732	1058	37	1	3184	1	TDRD7	9	100257990	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	201719	100257990	40955441	3597	70211											
TSTD2	158427	broad.mit.edu	37	chr9	100380144	100380144	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaggagcacctccccttcTtcactgccctggccactata	6	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:100380144T>G	uc004axn.2	-	4	986	c.498A>C	c.(496-498)GAA>GAC	p.E166D	TSTD2_uc004axo.2_5'UTR|TSTD2_uc004axp.1_5'UTR	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like	166										ovary(2)	2						CCTCCCCTTCTTCACTGCCCT	0.493													G	100380144	T	G	100380144	3	3	104	1	0	0	0	0	1	0	0	0	16672	1606	56	5	1080	5	TSTD2	9	100380144	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	122154	100380144	40833287	3598	70212											
XPA	7507	broad.mit.edu	37	chr9	100449522	100449522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctgttttggttataagCttgtgtttatcatcagcatc	8	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:100449522C>T	uc004axr.3	-	4	528	c.411G>A	c.(409-411)AAG>AAA	p.K137K	XPA_uc004axs.3_RNA	NM_000380	NP_000371	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	137					nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)	1		Acute lymphoblastic leukemia(62;0.158)				TGGTTATAAGCTTGTGTTTAT	0.323			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		NER	Xeroderma_Pigmentosum				T	100449522	C	T	100449522	2	4	104	1	0	0	0	0	0	0	0	1	17437	796	28	2		2	XPA	9	100449522	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	69378	100449522	40763909	3599	70213											
HEMGN	55363	broad.mit.edu	37	chr9	100692644	100692644	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcttcagaatgaggtgtttCttggattgttttatgagagg	13	3	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:100692644C>A	uc004axy.2	-	3	1141	c.1033G>T	c.(1033-1035)GAA>TAA	p.E345*	HEMGN_uc004axz.2_Nonsense_Mutation_p.E345*	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	hemogen	345					cell differentiation|multicellular organismal development					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TGAGGTGTTTCTTGGATTGTT	0.363													A	100692644	C	A	100692644	4	1	104	1	0	0	0	0	0	1	0	0	7050	922	32	5	429	5	HEMGN	9	100692644	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	243122	100692644	40520787	3600	70214											
HEMGN	55363	broad.mit.edu	37	chr9	100692828	100692828	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgatctgtttcattgtaTtcctctggttctgctggatt	8	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:100692828T>G	uc004axy.2	-	3	957	c.849A>C	c.(847-849)GAA>GAC	p.E283D	HEMGN_uc004axz.2_Missense_Mutation_p.E283D	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	hemogen	283					cell differentiation|multicellular organismal development					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TTTCATTGTATTCCTCTGGTT	0.413													G	100692828	T	G	100692828	3	3	104	1	0	0	0	0	1	0	0	0	7050	1490	52	5	613	5	HEMGN	9	100692828	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	184	100692828	40520603	3601	70215											
NANS	54187	broad.mit.edu	37	chr9	100845151	100845151	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagtctgtggtggccaaAgtgaaaattccggaaggcac	14	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:100845151A>C	uc004ayb.2	+	7	1536	c.894A>C	c.(892-894)AAA>AAC	p.K298N	NANS_uc004ayc.2_Missense_Mutation_p.K298N|TRIM14_uc004ayd.2_Intron|TRIM14_uc004ayf.1_Intron	NM_018946	NP_061819	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid phosphate synthase	298	AFP-like.				lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			skin(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TGGTGGCCAAAGTGAAAATTC	0.468													C	100845151	A	C	100845151	3	2	104	1	0	0	0	0	1	0	0	0	10155	69	3	5	916	5	NANS	9	100845151	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	152323	100845151	40368280	3602	70216											
GABBR2	9568	broad.mit.edu	37	chr9	101304324	101304324	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggttgcagcaaaagaaAgctgaaaaacacaaaagaga	11	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:101304324A>C	uc004ays.2	-	3	617	c.461T>G	c.(460-462)CTT>CGT	p.L154R		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	154	Extracellular (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGCAAAAGAAAGCTGAAAAAC	0.443													C	101304324	A	C	101304324	3	2	104	1	0	0	0	0	1	0	0	0	6156	86	3	5	2432	5	GABBR2	9	101304324	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	459173	101304324	39909107	3603	70217											
ANKS6	203286	broad.mit.edu	37	chr9	101536249	101536249	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgccttcccgttgtgacgCgtccgggaccgatcagagct	12	14	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:101536249C>T	uc004ayu.2	-	9	1752	c.1731G>A	c.(1729-1731)ACG>ACA	p.T577T	ANKS6_uc004ayt.2_Silent_p.T276T|ANKS6_uc004ayv.1_Silent_p.T39T|ANKS6_uc004ayw.1_Silent_p.T159T|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	577										ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				CGTTGTGACGCGTCCGGGACC	0.632													T	101536249	C	T	101536249	2	4	104	1	0	0	0	0	0	0	0	1	692	755	27	1		1	ANKS6	9	101536249	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	231925	101536249	39677182	3604	70218											
COL15A1	1306	broad.mit.edu	37	chr9	101767207	101767207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataatgaagagcgtttagcaGcaacagcagcaggggaggcc	14	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:101767207G>A	uc004azb.1	+	9	1434	c.1228G>A	c.(1228-1230)GCA>ACA	p.A410T		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	410	Nonhelical region 1 (NC1).|4 X tandem repeats.|2.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				GCGTTTAGCAGCAACAGCAGC	0.597													A	101767207	G	A	101767207	3	1	104	1	0	0	0	0	1	0	0	0	3672	971	34	2	1262	2	COL15A1	9	101767207	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	230958	101767207	39446224	3605	70219											
COL15A1	1306	broad.mit.edu	37	chr9	101801001	101801001	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttctcggacattcctgagCtggtggggcctccggttggt	14	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:101801001C>T	uc004azb.1	+	22	2667	c.2461C>T	c.(2461-2463)CTG>TTG	p.L821L		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	821	Nonhelical region 4 (NC4).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				CATTCCTGAGCTGGTGGGGCC	0.463													T	101801001	C	T	101801001	2	4	104	1	0	0	0	0	0	0	0	1	3672	796	28	2		2	COL15A1	9	101801001	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	33794	101801001	39412430	3606	70220											
INVS	27130	broad.mit.edu	37	chr9	102988353	102988353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttttatttagggaaattatCgtttcatgaaactcttactt	5	5	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:102988353C>T	uc004bap.1	+	4	495	c.283C>T	c.(283-285)CGT>TGT	p.R95C	INVS_uc010mta.1_5'UTR|INVS_uc011lve.1_5'UTR|INVS_uc004bao.1_Missense_Mutation_p.R95C|INVS_uc004baq.1_5'UTR|INVS_uc004bar.1_5'UTR|INVS_uc010mtb.1_5'UTR	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	95	ANK 3.				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				GGGAAATTATCGTTTCATGAA	0.333													T	102988353	C	T	102988353	3	4	104	1	0	0	0	0	1	0	0	0	7787	884	31	1	293	1	INVS	9	102988353	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1187352	102988353	38225078	3607	70221											
ZNF189	7743	broad.mit.edu	37	chr9	104170264	104170264	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgtaaaacaagagattgaaGaaattgaggaagaagtggaa	12	2	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:104170264G>T	uc004bbh.1	+	3	490	c.214G>T	c.(214-216)GAA>TAA	p.E72*	ZNF189_uc004bbg.1_Nonsense_Mutation_p.E30*|ZNF189_uc004bbi.1_Nonsense_Mutation_p.E58*|ZNF189_uc011lvk.1_Nonsense_Mutation_p.E57*	NM_003452	NP_003443	O75820	ZN189_HUMAN	zinc finger protein 189 isoform 1	72	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|kidney(1)|central_nervous_system(1)	6		Acute lymphoblastic leukemia(62;0.0559)				AGAGATTGAAGAAATTGAGGA	0.363													T	104170264	G	T	104170264	4	4	104	1	0	0	0	0	0	1	0	0	17751	943	33	5	224	5	ZNF189	9	104170264	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1181911	104170264	37043167	3608	70222											
RNF20	56254	broad.mit.edu	37	chr9	104317003	104317003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctaaggcaaagactcaagGatctggaagataaagagaag	11	5	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:104317003G>A	uc004bbn.2	+	15	2137	c.2047G>A	c.(2047-2049)GAT>AAT	p.D683N		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	683	Potential.				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AAGACTCAAGGATCTGGAAGA	0.368													A	104317003	G	A	104317003	3	1	104	1	0	0	0	0	1	0	0	0	13473	1174	41	4	2101	4	RNF20	9	104317003	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	146739	104317003	36896428	3609	70223											
CYLC2	1539	broad.mit.edu	37	chr9	105767051	105767051	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgttctttaatgagaatttcTgagagaccatctgtttattt	7	6	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:105767051T>A	uc004bbs.2	+	4	325	c.255T>A	c.(253-255)TCT>TCA	p.S85S		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	85	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)				TGAGAATTTCTGAGAGACCAT	0.393													A	105767051	T	A	105767051	2	1	104	1	0	0	0	0	0	0	0	1	4142	1567	55	5		5	CYLC2	9	105767051	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1450048	105767051	35446380	3610	70224											
CYLC2	1539	broad.mit.edu	37	chr9	105767610	105767610	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agggcaaggattcagccataGaattacaagctgtaaaagca	10	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:105767610G>T	uc004bbs.2	+	5	767	c.697G>T	c.(697-699)GAA>TAA	p.E233*		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	233	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.|3.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)				TTCAGCCATAGAATTACAAGC	0.388													T	105767610	G	T	105767610	4	4	104	1	0	0	0	0	0	1	0	0	4142	943	33	5	715	5	CYLC2	9	105767610	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	559	105767610	35445821	3611	70225											
OR13C4	138804	broad.mit.edu	37	chr9	107288807	107288807	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtcttcctgtggccgagttCgttcgcaagatggtgtagag	14	8	1	2	rs141274906	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:107288807C>T	uc011lvn.1	-	1	684	c.684G>A	c.(682-684)ACG>ACA	p.T228T		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	228	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TGGCCGAGTTCGTTCGCAAGA	0.408													T	107288807	C	T	107288807	2	4	104	1	0	0	0	0	0	0	0	1	10936	871	31	1		1	OR13C4	9	107288807	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1521197	107288807	33924624	3612	70226											
OR13C5	138799	broad.mit.edu	37	chr9	107361671	107361671	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaaaaaattccaccagAatggtgtggttttcccattc	7	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:107361671A>G	uc011lvp.1	-	1	24	c.24T>C	c.(22-24)ATT>ATC	p.I8I		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C,	8	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4						ATTCCACCAGAATGGTGTGGT	0.383													G	107361671	A	G	107361671	2	3	104	1	0	0	0	0	0	0	0	1	10937	242	9	3		3	OR13C5	9	107361671	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	72864	107361671	33851760	3613	70227											
ABCA1	19	broad.mit.edu	37	chr9	107547710	107547710	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctgagaaacagagtagtcTtctatgtggagtcgcttttt	11	6	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:107547710T>G	uc004bcl.2	-	49	6925	c.6612A>C	c.(6610-6612)GAA>GAC	p.E2204D	NIPSNAP3B_uc004bcj.1_Intron	NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	2204					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGAGTAGTCTTCTATGTGGA	0.473													G	107547710	T	G	107547710	3	3	104	1	0	0	0	0	1	0	0	0	28	1606	56	5	181	5	ABCA1	9	107547710	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	186039	107547710	33665721	3614	70228											
ABCA1	19	broad.mit.edu	37	chr9	107582240	107582240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttttgcttttcagcttgCttgatggcaaaccaacatcc	7	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:107582240C>T	uc004bcl.2	-	21	3384	c.3071G>A	c.(3070-3072)AGC>AAC	p.S1024N		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1024	ABC transporter 1.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTTCAGCTTGCTTGATGGCAA	0.552													T	107582240	C	T	107582240	3	4	104	1	0	0	0	0	1	0	0	0	28	797	28	2	3834	2	ABCA1	9	107582240	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	34530	107582240	33631191	3615	70229											
TMEM38B	55151	broad.mit.edu	37	chr9	108536166	108536166	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ataaccatgatgactacacaGacttctactatgacatttgc	5	10	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:108536166G>T	uc004bcu.1	+	6	798	c.681G>T	c.(679-681)CAG>CAT	p.Q227H	TMEM38B_uc010mtn.1_3'UTR	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	227	Helical; (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			ovary(1)|skin(1)	2						TGACTACACAGACTTCTACTA	0.348													T	108536166	G	T	108536166	3	4	104	1	0	0	0	0	1	0	0	0	16157	933	33	5	703	5	TMEM38B	9	108536166	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	953926	108536166	32677265	3616	70230											
ZNF462	58499	broad.mit.edu	37	chr9	109691051	109691051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgaagctgccagtccccctcGagcccgagatgaccactgaa	10	16	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:109691051G>A	uc004bcz.2	+	3	5147	c.4858G>A	c.(4858-4860)GAG>AAG	p.E1620K	ZNF462_uc010mto.2_Missense_Mutation_p.E1468K|ZNF462_uc004bda.2_Missense_Mutation_p.E1468K	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1620					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						AGTCCCCCTCGAGCCCGAGAT	0.542													A	109691051	G	A	109691051	3	1	104	1	0	0	0	0	1	0	0	0	17923	1059	37	1	4864	1	ZNF462	9	109691051	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1154885	109691051	31522380	3617	70231											
ACTL7A	10881	broad.mit.edu	37	chr9	111624759	111624759	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atacgagttcagagccacaaGaacctactgaatcaaaggca	8	10	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:111624759G>T	uc004bdj.1	+	1	157	c.157G>T	c.(157-159)GAA>TAA	p.E53*		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	53						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0						AGAGCCACAAGAACCTACTGA	0.607													T	111624759	G	T	111624759	4	4	104	1	0	0	0	0	0	1	0	0	200	943	33	5	159	5	ACTL7A	9	111624759	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1933708	111624759	29588672	3618	70232											
IKBKAP	8518	broad.mit.edu	37	chr9	111689701	111689701	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggactccaactcataacagaGataccactggctacactccc	6	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:111689701G>T	uc004bdm.3	-	4	856	c.336C>A	c.(334-336)ATC>ATA	p.I112I	IKBKAP_uc011lwc.1_5'UTR|IKBKAP_uc010mtq.2_Intron	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	112					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						TCATAACAGAGATACCACTGG	0.433													T	111689701	G	T	111689701	2	4	104	1	0	0	0	0	0	0	0	1	7610	932	33	5		5	IKBKAP	9	111689701	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	64942	111689701	29523730	3619	70233											
CTNNAL1	8727	broad.mit.edu	37	chr9	111761501	111761501	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagttttatcagacttTttggtattatctttatgatt	7	4	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:111761501T>G	uc004bdo.1	-	2	219	c.177A>C	c.(175-177)AAA>AAC	p.K59N	CTNNAL1_uc010mtt.1_Missense_Mutation_p.K59N|CTNNAL1_uc004bdp.1_Missense_Mutation_p.K59N	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	catenin, alpha-like 1	59					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			ovary(1)	1				STAD - Stomach adenocarcinoma(157;0.0768)		TATCAGACTTTTTGGTATTAT	0.323													G	111761501	T	G	111761501	3	3	104	1	0	0	0	0	1	0	0	0	4015	1838	64	5	2099	5	CTNNAL1	9	111761501	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	71800	111761501	29451930	3620	70234											
C9orf5	23731	broad.mit.edu	37	chr9	111795637	111795637	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttggcgtgggaactgaattCgtgggactcactagcatggc	14	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:111795637C>T	uc004bdt.3	-	17	2576	c.2544G>A	c.(2542-2544)ACG>ACA	p.T848T	C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Silent_p.T840T	NM_032012	NP_114401	Q9H330	CI005_HUMAN	hypothetical protein LOC23731	848						integral to membrane				central_nervous_system(1)	1		Myeloproliferative disorder(63;0.204)		OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823)		GAACTGAATTCGTGGGACTCA	0.468													T	111795637	C	T	111795637	2	4	104	1	0	0	0	0	0	0	0	1	2486	871	31	1		1	C9orf5	9	111795637	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	34136	111795637	29417794	3621	70235											
EPB41L4B	54566	broad.mit.edu	37	chr9	112018421	112018421	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaaaactaaattaccaaaaGaataagcctattttgttagc	4	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:112018421G>T	uc004bdz.1	-	9	1219	c.924C>A	c.(922-924)TTC>TTA	p.F308L	EPB41L4B_uc004bea.2_Missense_Mutation_p.F308L	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	308	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						ATTACCAAAAGAATAAGCCTA	0.363													T	112018421	G	T	112018421	3	4	104	1	0	0	0	0	1	0	0	0	5156	933	33	5	2002	5	EPB41L4B	9	112018421	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	222784	112018421	29195010	3622	70236											
SVEP1	79987	broad.mit.edu	37	chr9	113170530	113170530	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcaaggccttgcacatcaatGattccattggggatttcctc	9	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:113170530G>T	uc010mtz.2	-	38	7687	c.7350C>A	c.(7348-7350)ATC>ATA	p.I2450I	SVEP1_uc010mty.2_Silent_p.I376I	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2450	Sushi 18.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GCACATCAATGATTCCATTGG	0.498													T	113170530	G	T	113170530	2	4	104	1	0	0	0	0	0	0	0	1	15417	1280	45	5		5	SVEP1	9	113170530	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1152109	113170530	28042901	3623	70237											
SVEP1	79987	broad.mit.edu	37	chr9	113198718	113198718	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggcttatggagcccacaaaaGactcagctgggctgaatccc	11	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:113198718G>T	uc010mtz.2	-	28	5043	c.4706C>A	c.(4705-4707)TCT>TAT	p.S1569Y		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1569	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GCCCACAAAAGACTCAGCTGG	0.473													T	113198718	G	T	113198718	3	4	104	1	0	0	0	0	1	0	0	0	15417	942	33	5	6093	5	SVEP1	9	113198718	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	28188	113198718	28014713	3624	70238											
SVEP1	79987	broad.mit.edu	37	chr9	113208196	113208196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtgttccatagttcatgtCgtcagaggatttcatccaga	10	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:113208196C>T	uc010mtz.2	-	26	4721	c.4384G>A	c.(4384-4386)GAC>AAC	p.D1462N	SVEP1_uc010mua.1_Missense_Mutation_p.D1462N	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1462	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TAGTTCATGTCGTCAGAGGAT	0.458													T	113208196	C	T	113208196	3	4	104	1	0	0	0	0	1	0	0	0	15417	884	31	1	6423	1	SVEP1	9	113208196	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	9478	113208196	28005235	3625	70239											
SVEP1	79987	broad.mit.edu	37	chr9	113221386	113221386	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcgagaattttccttctggAcaaggaactgcagaggtaaa	11	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:113221386A>G	uc010mtz.2	-	19	3667	c.3330T>C	c.(3328-3330)TGT>TGC	p.C1110C	SVEP1_uc010mua.1_Silent_p.C1110C	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1110					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TTCCTTCTGGACAAGGAACTG	0.428													G	113221386	A	G	113221386	2	3	104	1	0	0	0	0	0	0	0	1	15417	273	10	3		3	SVEP1	9	113221386	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	13190	113221386	27992045	3626	70240											
LPAR1	1902	broad.mit.edu	37	chr9	113704061	113704061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaaaccgtaatgtgcctctCgattgcaatagccagtaagt	9	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:113704061C>T	uc004bfa.2	-	4	688	c.433G>A	c.(433-435)GAG>AAG	p.E145K	LPAR1_uc011lwm.1_Missense_Mutation_p.E146K|LPAR1_uc004bfb.2_Missense_Mutation_p.E145K|LPAR1_uc004bfc.2_Missense_Mutation_p.E145K|LPAR1_uc011lwn.1_Missense_Mutation_p.E127K|LPAR1_uc011lwo.1_Missense_Mutation_p.E146K|LPAR1_uc010mub.2_Missense_Mutation_p.E145K	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	145	Cytoplasmic (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				ovary(2)	2						ATGTGCCTCTCGATTGCAATA	0.537													T	113704061	C	T	113704061	3	4	104	1	0	0	0	0	1	0	0	0	8904	893	31	1	669	1	LPAR1	9	113704061	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	482675	113704061	27509370	3627	70241											
ZNF483	158399	broad.mit.edu	37	chr9	114304143	114304143	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaaagcccctttggacatAatttcaaagaaacttcagac	5	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:114304143A>G	uc004bff.2	+	6	1152	c.928A>G	c.(928-930)AAT>GAT	p.N310D	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	310					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						CTTTGGACATAATTTCAAAGA	0.378													G	114304143	A	G	114304143	3	3	104	1	0	0	0	0	1	0	0	0	17933	362	13	3	946	3	ZNF483	9	114304143	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	600082	114304143	26909288	3628	70242											
DNAJC25	548645	broad.mit.edu	37	chr9	114412194	114412194	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgagagctctggatcaaggaGaattatgaggtgagtagtca	14	5	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:114412194G>T	uc004bfl.2	+	3	1007	c.951G>T	c.(949-951)GAG>GAT	p.E317D	DNAJC25-GNG10_uc004bfn.2_Intron|DNAJC25_uc004bfm.2_Missense_Mutation_p.E195D	NM_001015882	NP_001015882	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	317					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding				0						GGATCAAGGAGAATTATGAGG	0.373													T	114412194	G	T	114412194	3	4	104	1	0	0	0	0	1	0	0	0	4643	933	33	5	961	5	DNAJC25	9	114412194	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	108051	114412194	26801237	3629	70243											
C9orf84	158401	broad.mit.edu	37	chr9	114462248	114462248	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaatacctttacatccagttCttcagagtttagcccaaatg	6	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:114462248C>A	uc004bfr.2	-	22	3112	c.2977G>T	c.(2977-2979)GAA>TAA	p.E993*	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Nonsense_Mutation_p.E954*|C9orf84_uc010mug.2_Nonsense_Mutation_p.E904*	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	993										ovary(2)	2						ACATCCAGTTCTTCAGAGTTT	0.318													A	114462248	C	A	114462248	4	1	104	1	0	0	0	0	0	1	0	0	2500	922	32	5	1377	5	C9orf84	9	114462248	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	50054	114462248	26751183	3630	70244											
UGCG	7357	broad.mit.edu	37	chr9	114687128	114687128	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgaagttgcaaagtatgatCttatatggatttgtgatagt	10	2	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:114687128C>A	uc004bft.2	+	4	705	c.415C>A	c.(415-417)CTT>ATT	p.L139I		NM_003358	NP_003349	Q16739	CEGT_HUMAN	ceramide glucosyltransferase	139	Cytoplasmic (Potential).				epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	AAAGTATGATCTTATATGGAT	0.259													A	114687128	C	A	114687128	3	1	104	1	0	0	0	0	1	0	0	0	16936	913	32	5	429	5	UGCG	9	114687128	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	224880	114687128	26526303	3631	70245											
UGCG	7357	broad.mit.edu	37	chr9	114688676	114688676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgtagtaattccagataCgcttactgacatggtgaatc	8	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:114688676C>T	uc004bft.2	+	5	748	c.458C>T	c.(457-459)ACG>ATG	p.T153M		NM_003358	NP_003349	Q16739	CEGT_HUMAN	ceramide glucosyltransferase	153	Cytoplasmic (Potential).				epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	ATTCCAGATACGCTTACTGAC	0.383													T	114688676	C	T	114688676	3	4	104	1	0	0	0	0	1	0	0	0	16936	536	19	1	476	1	UGCG	9	114688676	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1548	114688676	26524755	3632	70246											
KIAA1958	158405	broad.mit.edu	37	chr9	115421687	115421687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatgcaggtgtcggctttTccatcaccagcagcaccttc	9	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:115421687T>C	uc004bgf.1	+	4	1664	c.1489T>C	c.(1489-1491)TCC>CCC	p.S497P	KIAA1958_uc011lwx.1_Missense_Mutation_p.S525P	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	497										skin(1)	1						TGTCGGCTTTTCCATCACCAG	0.592													C	115421687	T	C	115421687	3	2	104	1	0	0	0	0	1	0	0	0	8264	1783	62	3	1499	3	KIAA1958	9	115421687	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	733011	115421687	25791744	3633	70247											
KIAA1958	158405	broad.mit.edu	37	chr9	115421766	115421766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgagtaaggcaggcatgtCgggcgcgcgttctcgcaaca	15	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:115421766C>T	uc004bgf.1	+	4	1743	c.1568C>T	c.(1567-1569)TCG>TTG	p.S523L	KIAA1958_uc011lwx.1_Missense_Mutation_p.S551L	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	523										skin(1)	1						GCAGGCATGTCGGGCGCGCGT	0.567													T	115421766	C	T	115421766	3	4	104	1	0	0	0	0	1	0	0	0	8264	893	31	1	1578	1	KIAA1958	9	115421766	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	79	115421766	25791665	3634	70248											
ZNF883	169834	broad.mit.edu	37	chr9	115759713	115759713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttcagtaaggtgtgtacttCgactgaaggtttttccacat	10	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:115759713C>T	uc011lwy.1	-	5	2066	c.827G>A	c.(826-828)CGA>CAA	p.R276Q		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	hypothetical protein LOC169834	276	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTGTGTACTTCGACTGAAGGT	0.378													T	115759713	C	T	115759713	3	4	104	1	0	0	0	0	1	0	0	0	18195	884	31	1	314	1	ZNF883	9	115759713	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	337947	115759713	25453718	3635	70249											
ZFP37	7539	broad.mit.edu	37	chr9	115805311	115805311	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgttgagtaaggccttcAatttgtttaaagcctttccc	8	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:115805311A>C	uc004bgm.1	-	4	1615	c.1587T>G	c.(1585-1587)ATT>ATG	p.I529M	ZFP37_uc011lwz.1_Missense_Mutation_p.I544M|ZFP37_uc011lxa.1_Missense_Mutation_p.I530M	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	529	C2H2-type 9.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						TAAGGCCTTCAATTTGTTTAA	0.398													C	115805311	A	C	115805311	3	2	104	1	0	0	0	0	1	0	0	0	17645	126	5	5	309	5	ZFP37	9	115805311	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	45598	115805311	25408120	3636	70250											
ZFP37	7539	broad.mit.edu	37	chr9	115806243	115806243	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctttttgcctttccttgTatcagataagctatggttga	8	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:115806243T>C	uc004bgm.1	-	4	683	c.655A>G	c.(655-657)ACA>GCA	p.T219A	ZFP37_uc011lwz.1_Missense_Mutation_p.T234A|ZFP37_uc011lxa.1_Missense_Mutation_p.T220A	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	219						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						CCTTTCCTTGTATCAGATAAG	0.343													C	115806243	T	C	115806243	3	2	104	1	0	0	0	0	1	0	0	0	17645	1638	57	3	1241	3	ZFP37	9	115806243	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	932	115806243	25407188	3637	70251											
FKBP15	23307	broad.mit.edu	37	chr9	115946040	115946040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgtcattacctctgatttCgttcaattagttcactaatc	4	11	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:115946040C>T	uc004bgs.2	-	18	1920	c.1802G>A	c.(1801-1803)CGA>CAA	p.R601Q	FKBP15_uc010muu.1_Missense_Mutation_p.R665Q|FKBP15_uc004bgr.2_Missense_Mutation_p.R48Q|FKBP15_uc011lxc.1_Missense_Mutation_p.R182Q|FKBP15_uc011lxd.1_Missense_Mutation_p.R533Q|FKBP15_uc010mut.1_Missense_Mutation_p.R469Q	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	601	Potential.				endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3						CCTCTGATTTCGTTCAATTAG	0.373													T	115946040	C	T	115946040	3	4	104	1	0	0	0	0	1	0	0	0	5905	884	31	1	1901	1	FKBP15	9	115946040	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	139797	115946040	25267391	3638	70252											
PRPF4	9128	broad.mit.edu	37	chr9	116041260	116041260	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagagcatatcagcgagCgacaggcagaagtattggct	13	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:116041260C>T	uc004bgx.2	+	3	294	c.244C>T	c.(244-246)CGA>TGA	p.R82*	PRPF4_uc004bgy.2_Nonsense_Mutation_p.R81*	NM_004697	NP_004688	O43172	PRP4_HUMAN	PRP4 pre-mRNA processing factor 4 homolog	82				HISERQAEVLAEFERRKRARQINVST -> ISASDRQKYWL SLREGSEPGRSMFPP (in Ref. 3; AAC02261).		Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			ovary(2)|pancreas(1)	3						TATCAGCGAGCGACAGGCAGA	0.418													T	116041260	C	T	116041260	4	4	104	1	0	0	0	0	0	1	0	0	12570	760	27	1	254	1	PRPF4	9	116041260	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	95220	116041260	25172171	3639	70253											
WDR31	114987	broad.mit.edu	37	chr9	116080896	116080896	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atactcacatattctgtttcGagtctgtcttaggtcccaca	6	11	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:116080896G>A	uc004bhe.2	-	10	1054	c.802C>T	c.(802-804)CGA>TGA	p.R268*	WDR31_uc004bhc.2_Nonsense_Mutation_p.R267*|WDR31_uc004bhd.2_Nonsense_Mutation_p.R143*|WDR31_uc004bhf.2_RNA	NM_001012361	NP_001012361	Q8NA23	WDR31_HUMAN	WD repeat domain 31 isoform 1	268											0						ATTCTGTTTCGAGTCTGTCTT	0.458													A	116080896	G	A	116080896	4	1	104	1	0	0	0	0	0	1	0	0	17283	1066	37	1	309	1	WDR31	9	116080896	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	39636	116080896	25132535	3640	70254											
WDR31	114987	broad.mit.edu	37	chr9	116094237	116094237	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttgctgtttccccatcacGacacaaaacctaaacgaaac	4	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:116094237G>A	uc004bhe.2	-	3	318	c.66C>T	c.(64-66)GTC>GTT	p.V22V	WDR31_uc004bhc.2_Silent_p.V22V|WDR31_uc004bhd.2_5'UTR|WDR31_uc004bhf.2_Intron	NM_001012361	NP_001012361	Q8NA23	WDR31_HUMAN	WD repeat domain 31 isoform 1	22											0						TCCCCATCACGACACAAAACC	0.473													A	116094237	G	A	116094237	2	1	104	1	0	0	0	0	0	0	0	1	17283	1045	37	1		1	WDR31	9	116094237	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13341	116094237	25119194	3641	70255											
RGS3	5998	broad.mit.edu	37	chr9	116269874	116269874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccgtgccactgcccccaccGaccccaactacatcatcctg	5	22	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:116269874G>A	uc004bhq.2	+	14	1602	c.1393G>A	c.(1393-1395)GAC>AAC	p.D465N	RGS3_uc004bhr.2_Missense_Mutation_p.D353N|RGS3_uc004bhs.2_Missense_Mutation_p.D355N|RGS3_uc004bht.2_Missense_Mutation_p.D184N|RGS3_uc010muy.2_Missense_Mutation_p.D184N|RGS3_uc004bhu.2_Missense_Mutation_p.D91N	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	465					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						TGCCCCCACCGACCCCAACTA	0.562													A	116269874	G	A	116269874	3	1	104	1	0	0	0	0	1	0	0	0	13306	1058	37	1	1584	1	RGS3	9	116269874	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	175637	116269874	24943557	3642	70256											
ZNF618	114991	broad.mit.edu	37	chr9	116812263	116812263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgatctcttccagtactggtCgtgcgttacccaaaagcaca	8	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:116812263C>T	uc004bid.2	+	15	2780	c.2681C>T	c.(2680-2682)TCG>TTG	p.S894L	ZNF618_uc004bic.2_Missense_Mutation_p.S801L|ZNF618_uc011lxi.1_Missense_Mutation_p.S861L|ZNF618_uc011lxj.1_Missense_Mutation_p.S862L|ZNF618_uc010mvb.2_Missense_Mutation_p.S484L	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	894					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CAGTACTGGTCGTGCGTTACC	0.562													T	116812263	C	T	116812263	3	4	104	1	0	0	0	0	1	0	0	0	18039	893	31	1	2456	1	ZNF618	9	116812263	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	542389	116812263	24401168	3643	70257											
COL27A1	85301	broad.mit.edu	37	chr9	116930507	116930507	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctaccctgtgacgcaggtCgctcacaattactgtaccca	7	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:116930507C>T	uc011lxl.1	+	3	672	c.672C>T	c.(670-672)GTC>GTT	p.V224V	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Silent_p.V74V	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	224	Laminin G-like.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						TGACGCAGGTCGCTCACAATT	0.562													T	116930507	C	T	116930507	2	4	104	1	0	0	0	0	0	0	0	1	3685	871	31	1		1	COL27A1	9	116930507	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	118244	116930507	24282924	3644	70258											
DFNB31	25861	broad.mit.edu	37	chr9	117266526	117266526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgacgcgcagaatctggtCcccgacccgcagtccttcct	10	16	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:117266526C>T	uc004biz.3	-	1	1205	c.556G>A	c.(556-558)GAC>AAC	p.D186N	DFNB31_uc004biy.3_5'Flank|DFNB31_uc004bja.3_Missense_Mutation_p.D186N|DFNB31_uc004bjb.2_Missense_Mutation_p.D186N	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	186	PDZ 1.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						AGAATCTGGTCCCCGACCCGC	0.547													T	117266526	C	T	117266526	3	4	104	1	0	0	0	0	1	0	0	0	4455	855	30	4	2215	4	DFNB31	9	117266526	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	336019	117266526	23946905	3645	70259											
TNFSF8	944	broad.mit.edu	37	chr9	117666356	117666356	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaattgagagagattctggTatacgtgtttcgtttgcatt	11	4	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:117666356T>C	uc004bji.1	-	4	747	c.560A>G	c.(559-561)TAC>TGC	p.Y187C		NM_001244	NP_001235	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily,	187	Extracellular (Potential).				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			lung(3)|skin(2)|ovary(1)	6						GAGATTCTGGTATACGTGTTT	0.428													C	117666356	T	C	117666356	3	2	104	1	0	0	0	0	1	0	0	0	16308	1638	57	3	148	3	TNFSF8	9	117666356	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	399830	117666356	23547075	3646	70260											
TNC	3371	broad.mit.edu	37	chr9	117825464	117825464	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtttcccatatctggaacCtcctctgcataaggacacag	8	12	2	0	rs149347382		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:117825464C>A	uc004bjj.3	-	13	4127	c.3765G>T	c.(3763-3765)GAG>GAT	p.E1255D	TNC_uc010mvf.2_Missense_Mutation_p.E1255D	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1255	Fibronectin type-III 8.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						TATCTGGAACCTCCTCTGCAT	0.483													A	117825464	C	A	117825464	3	1	104	1	0	0	0	0	1	0	0	0	16267	680	24	5	2904	5	TNC	9	117825464	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	159108	117825464	23387967	3647	70261											
TNC	3371	broad.mit.edu	37	chr9	117840406	117840406	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggtcagctcaatgccatcGatctcagccaggggcttgaa	11	11	3	1	rs145321605	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:117840406G>A	uc004bjj.3	-	7	2852	c.2490C>T	c.(2488-2490)ATC>ATT	p.I830I	TNC_uc010mvf.2_Silent_p.I830I	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	830	Fibronectin type-III 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CAATGCCATCGATCTCAGCCA	0.557													A	117840406	G	A	117840406	2	1	104	1	0	0	0	0	0	0	0	1	16267	1048	37	1		1	TNC	9	117840406	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	14942	117840406	23373025	3648	70262											
PAPPA	5069	broad.mit.edu	37	chr9	118974146	118974146	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgtggtgacccagggccagGaaatgacacctgtggctttc	13	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:118974146G>T	uc004bjn.2	+	4	2234	c.1853G>T	c.(1852-1854)GGA>GTA	p.G618V	PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.1_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	618					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						CCAGGGCCAGGAAATGACACC	0.532													T	118974146	G	T	118974146	3	4	104	1	0	0	0	0	1	0	0	0	11432	1174	41	5	1867	5	PAPPA	9	118974146	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1133740	118974146	22239285	3649	70263											
PAPPA	5069	broad.mit.edu	37	chr9	118997781	118997781	+	Missense_Mutation	SNP	C	C	T													tgagcacctggagatcgatgCtgccatgttgacctccactg							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:118997781C>T	uc004bjn.2	+	7	2978	c.2597C>T	c.(2596-2598)GCT>GTT	p.A866V	PAPPA_uc011lxp.1_Missense_Mutation_p.A561V|PAPPA_uc011lxq.1_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	866					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						GAGATCGATGCTGCCATGTTG	0.562													T	118997781	C	T	118997781	3	4	104	1	0	0	0	0	1	0	0	0	11432	797	28	2	2623	2	PAPPA	9	118997781	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	23635	118997781	22215650	3650	70264	324	2									
PAPPA	5069	broad.mit.edu	37	chr9	118997789	118997789	+	Silent	SNP	T	T	C													tggagatcgatgctgccatgTtgacctccactgcagacacc							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:118997789T>C	uc004bjn.2	+	7	2986	c.2605T>C	c.(2605-2607)TTG>CTG	p.L869L	PAPPA_uc011lxp.1_Silent_p.L564L|PAPPA_uc011lxq.1_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	869					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						TGCTGCCATGTTGACCTCCAC	0.562													C	118997789	T	C	118997789	2	2	104	1	0	0	0	0	0	0	0	1	11432	1722	60	3		3	PAPPA	9	118997789	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	8	118997789	22215642	3651	70265	324	2									
ASTN2	23245	broad.mit.edu	37	chr9	119188144	119188144	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccctcaccggcccttggActccccgtacgtgtttcggg	10	18	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:119188144A>G	uc004bjs.1	-	23	4107	c.4006T>C	c.(4006-4008)TCC>CCC	p.S1336P	ASTN2_uc004bjr.1_Missense_Mutation_p.S1332P|ASTN2_uc004bjt.1_Missense_Mutation_p.S1285P|ASTN2_uc004bjp.1_Missense_Mutation_p.S429P|ASTN2_uc004bjq.1_Intron|ASTN2_uc011lxr.1_Missense_Mutation_p.S388P|ASTN2_uc011lxs.1_Intron|ASTN2_uc011lxt.1_Missense_Mutation_p.S388P|ASTN2_uc004bjo.1_Missense_Mutation_p.S117P	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	1336	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						CGGCCCTTGGACTCCCCGTAC	0.602													G	119188144	A	G	119188144	3	3	104	1	0	0	0	0	1	0	0	0	1065	275	10	3	58	3	ASTN2	9	119188144	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	190355	119188144	22025287	3652	70266											
ASTN2	23245	broad.mit.edu	37	chr9	119625945	119625945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attgttccgagagcagtcacGaactggcccgaaggaagaca	12	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:119625945G>A	uc004bjs.1	-	11	2058	c.1957C>T	c.(1957-1959)CGT>TGT	p.R653C	ASTN2_uc004bjr.1_Missense_Mutation_p.R649C|ASTN2_uc004bjt.1_Missense_Mutation_p.R602C	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	653	Extracellular (Potential).|EGF-like 2.					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						GAGCAGTCACGAACTGGCCCG	0.542													A	119625945	G	A	119625945	3	1	104	1	0	0	0	0	1	0	0	0	1065	1058	37	1	2346	1	ASTN2	9	119625945	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	437801	119625945	21587486	3653	70267											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123215733	123215733	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttattacatggaaaaacttaCtctgttggtaataccaggga	8	6	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:123215733C>T	uc004bkf.2	-	21	2974	c.2793_splice	c.e21+1	p.R931_splice	CDK5RAP2_uc004bke.2_Splice_Site_p.R216_splice|CDK5RAP2_uc004bkg.2_Splice_Site_p.R931_splice|CDK5RAP2_uc011lxw.1_Splice_Site_p.R196_splice|CDK5RAP2_uc011lxx.1_Splice_Site|CDK5RAP2_uc011lxy.1_Splice_Site|CDK5RAP2_uc011lxz.1_Splice_Site_p.R196_splice|CDK5RAP2_uc011lya.1_Splice_Site_p.R196_splice|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.2_Splice_Site_p.R698_splice	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2						brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						GAAAAACTTACTCTGTTGGTA	0.433													T	123215733	C	T	123215733	5	4	104	1	0	0	0	0	0	0	1	0	3146	579	20	4	2959	4	CDK5RAP2	9	123215733	Splice_Site	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3589788	123215733	17997698	3654	70268											
C5	727	broad.mit.edu	37	chr9	123725007	123725007	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgagaaacccaacttcaaaGagttcaaatatccggaatcg	7	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:123725007G>T	uc004bkv.2	-	36	4476	c.4446C>A	c.(4444-4446)CTC>CTA	p.L1482L		NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	1482					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CAACTTCAAAGAGTTCAAATA	0.368													T	123725007	G	T	123725007	2	4	104	1	0	0	0	0	0	0	0	1	2280	929	33	5		5	C5	9	123725007	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	509274	123725007	17488424	3655	70269											
C5	727	broad.mit.edu	37	chr9	123742403	123742403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaagctgaaacaattgaacGaaactgtgggtgagttttat	10	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:123742403G>A	uc004bkv.2	-	28	3646	c.3616C>T	c.(3616-3618)CGT>TGT	p.R1206C		NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	1206					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ACAATTGAACGAAACTGTGGG	0.333													A	123742403	G	A	123742403	3	1	104	1	0	0	0	0	1	0	0	0	2280	1058	37	1	1470	1	C5	9	123742403	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	17396	123742403	17471028	3656	70270											
CEP110	11064	broad.mit.edu	37	chr9	123912533	123912533	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgcctcctcctggatacatGatgtatactgtgcttcctga	9	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:123912533G>T	uc004bkx.1	+	23	3766	c.3735G>T	c.(3733-3735)ATG>ATT	p.M1245I	CEP110_uc004bky.1_Missense_Mutation_p.M849I|CEP110_uc004bla.1_Missense_Mutation_p.M693I|CEP110_uc010mvo.1_5'UTR|CEP110_uc004blb.1_5'Flank	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	1245	Pro-rich.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						CTGGATACATGATGTATACTG	0.512													T	123912533	G	T	123912533	3	4	104	1	0	0	0	0	1	0	0	0	3245	1290	45	5	3825	5	CEP110	9	123912533	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	170130	123912533	17300898	3657	70271											
CEP110	11064	broad.mit.edu	37	chr9	123927254	123927254	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagaagaaaatagcaaaatGgagcaatcaaacttagaaaa	8	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:123927254G>T	uc004bkx.1	+	33	5488	c.5457G>T	c.(5455-5457)ATG>ATT	p.M1819I	CEP110_uc004blb.1_Missense_Mutation_p.M488I|CEP110_uc010mvp.1_5'UTR	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	1819	Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						ATAGCAAAATGGAGCAATCAA	0.403													T	123927254	G	T	123927254	3	4	104	1	0	0	0	0	1	0	0	0	3245	1348	47	5	5587	5	CEP110	9	123927254	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	14721	123927254	17286177	3658	70272											
CEP110	11064	broad.mit.edu	37	chr9	123928390	123928390	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcatttctttagaaaaaCgagaagcagtaaactcactg	7	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:123928390C>T	uc004bkx.1	+	34	5618	c.5587C>T	c.(5587-5589)CGA>TGA	p.R1863*	CEP110_uc004blb.1_Nonsense_Mutation_p.R532*|CEP110_uc010mvp.1_Translation_Start_Site	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	1863	Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						TTTAGAAAAACGAGAAGCAGT	0.333													T	123928390	C	T	123928390	4	4	104	1	0	0	0	0	0	1	0	0	3245	528	19	1	5721	1	CEP110	9	123928390	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1136	123928390	17285041	3659	70273											
NDUFA8	4702	broad.mit.edu	37	chr9	124914534	124914534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatttttacctaaagaagtCcaaagcacacttgttgacca	6	9	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:124914534C>T	uc004blv.2	-	2	347	c.205G>A	c.(205-207)GAC>AAC	p.D69N		NM_014222	NP_055037	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	69	CHCH 1.				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)	1					NADH(DB00157)	CTAAAGAAGTCCAAAGCACAC	0.408													T	124914534	C	T	124914534	3	4	104	1	0	0	0	0	1	0	0	0	10271	855	30	4	325	4	NDUFA8	9	124914534	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	986144	124914534	16298897	3660	70274											
MORN5	254956	broad.mit.edu	37	chr9	124936902	124936902	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaccgctttctaagaaaCgcaggtaggtttcttccgac	10	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:124936902C>T	uc004blw.2	+	4	497	c.435C>T	c.(433-435)AAC>AAT	p.N145N	MORN5_uc011lyn.1_Silent_p.N145N|MORN5_uc011lyo.1_3'UTR	NM_198469	NP_940871	Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	145											0						TTCTAAGAAACGCAGGTAGGT	0.448													T	124936902	C	T	124936902	2	4	104	1	0	0	0	0	0	0	0	1	9711	535	19	1		1	MORN5	9	124936902	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	22368	124936902	16276529	3661	70275											
LHX6	26468	broad.mit.edu	37	chr9	124976602	124976602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacgtccgcgcgcgcttgGccggcttgggttgactgtcc	16	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:124976602G>A	uc010mvw.2	-	5	765	c.656C>T	c.(655-657)GCC>GTC	p.A219V	LHX6_uc004blx.3_Missense_Mutation_p.A248V|LHX6_uc004bly.3_Missense_Mutation_p.A248V	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN	LIM homeobox protein 6 isoform 1	219	Homeobox.				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CGCGCGCTTGGCCGGCTTGGG	0.582													A	124976602	G	A	124976602	3	1	104	1	0	0	0	0	1	0	0	0	8775	1203	42	2	514	2	LHX6	9	124976602	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	39700	124976602	16236829	3662	70276											
RBM18	92400	broad.mit.edu	37	chr9	125009820	125009820	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttgagcatgtgcccatcGcaccaccagcttcttggaca	8	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:125009820G>A	uc004bma.2	-	4	470	c.304C>T	c.(304-306)CGA>TGA	p.R102*	RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_Intron	NM_033117	NP_149108	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	102	RRM.						nucleotide binding|RNA binding				0						TGTGCCCATCGCACCACCAGC	0.483													A	125009820	G	A	125009820	4	1	104	1	0	0	0	0	0	1	0	0	13120	1095	38	1	280	1	RBM18	9	125009820	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	33218	125009820	16203611	3663	70277											
OR1J2	26740	broad.mit.edu	37	chr9	125273593	125273593	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggctgtctttctgtgctgcGaacaccatcccccatgtctt	8	15	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:125273593G>A	uc004bmj.1	+	4	1368	c.513G>A	c.(511-513)GCG>GCA	p.A171A	OR1J2_uc011lyv.1_Silent_p.A171A	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J,	171	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|pancreas(1)|breast(1)	5						TCTGTGCTGCGAACACCATCC	0.532													A	125273593	G	A	125273593	2	1	104	1	0	0	0	0	0	0	0	1	10960	1045	37	1		1	OR1J2	9	125273593	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	263773	125273593	15939838	3664	70278											
OR1N1	138883	broad.mit.edu	37	chr9	125288673	125288673	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcctgtgactgaagagcctCtttagggcccccttcatgtc	9	14	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:125288673C>A	uc004bmn.1	-	1	900	c.900G>T	c.(898-900)AAG>AAT	p.K300N		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)|breast(1)|skin(1)	3						TGAAGAGCCTCTTTAGGGCCC	0.333													A	125288673	C	A	125288673	3	1	104	1	0	0	0	0	1	0	0	0	10969	912	32	5	39	5	OR1N1	9	125288673	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	15080	125288673	15924758	3665	70279											
OR1L3	26735	broad.mit.edu	37	chr9	125437916	125437916	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaatcggctcaccttttgtAcatcaaatgttatccatcat	5	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:125437916A>G	uc011lzb.1	+	1	508	c.508A>G	c.(508-510)ACA>GCA	p.T170A		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L,	170	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CACCTTTTGTACATCAAATGT	0.453													G	125437916	A	G	125437916	3	3	104	1	0	0	0	0	1	0	0	0	10964	391	14	3	510	3	OR1L3	9	125437916	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	149243	125437916	15775515	3666	70280											
OR1L4	254973	broad.mit.edu	37	chr9	125486541	125486541	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aattttctatcagagacaaaGattatctcttatgtgggctg	8	6	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:125486541G>T	uc004bmu.1	+	1	273	c.273G>T	c.(271-273)AAG>AAT	p.K91N		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CAGAGACAAAGATTATCTCTT	0.458													T	125486541	G	T	125486541	3	4	104	1	0	0	0	0	1	0	0	0	10965	933	33	5	275	5	OR1L4	9	125486541	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	48625	125486541	15726890	3667	70281											
OR1K1	392392	broad.mit.edu	37	chr9	125562444	125562444	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagggaatctcattcgttTtattgggactgacaacaagt	10	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:125562444T>G	uc011lze.1	+	1	43	c.43T>G	c.(43-45)TTA>GTA	p.L15V		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K,	15	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CTCATTCGTTTTATTGGGACT	0.522													G	125562444	T	G	125562444	3	3	104	1	0	0	0	0	1	0	0	0	10962	1838	64	5	45	5	OR1K1	9	125562444	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	75903	125562444	15650987	3668	70282											
ZBTB6	10773	broad.mit.edu	37	chr9	125674239	125674239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaactcagtgtcattaatgTaaattgatacatcacaaaat	6	6	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:125674239T>C	uc004bnh.2	-	2	202	c.113A>G	c.(112-114)TAC>TGC	p.Y38C		NM_006626	NP_006617	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	38	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTCATTAATGTAAATTGATAC	0.383													C	125674239	T	C	125674239	3	2	104	1	0	0	0	0	1	0	0	0	17549	1638	57	3	1165	3	ZBTB6	9	125674239	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	111795	125674239	15539192	3669	70283											
ZBTB26	57684	broad.mit.edu	37	chr9	125682174	125682174	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taacattgaatctccataatTttcaaacttgaagtgaagga	6	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:125682174T>G	uc004bnj.2	-	2	252	c.40A>C	c.(40-42)AAT>CAT	p.N14H	ZBTB26_uc004bnk.2_Missense_Mutation_p.N14H	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCTCCATAATTTTCAAACTTG	0.308													G	125682174	T	G	125682174	3	3	104	1	0	0	0	0	1	0	0	0	17530	1841	64	5	1289	5	ZBTB26	9	125682174	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	7935	125682174	15531257	3670	70284											
RABGAP1	23637	broad.mit.edu	37	chr9	125758389	125758389	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attgataagaagattgtcatCtatgtgcagcaaacaactaa	7	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:125758389C>A	uc011lzh.1	+	7	1127	c.993C>A	c.(991-993)ATC>ATA	p.I331I	RABGAP1_uc004bnl.3_RNA	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	331					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						AGATTGTCATCTATGTGCAGC	0.328													A	125758389	C	A	125758389	2	1	104	1	0	0	0	0	0	0	0	1	12964	903	32	5		5	RABGAP1	9	125758389	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	76215	125758389	15455042	3671	70285											
RABGAP1	23637	broad.mit.edu	37	chr9	125861055	125861055	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgagattaaaaaaaacagttCtatcattggtgactataagc	7	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:125861055C>A	uc011lzh.1	+	23	2929	c.2795C>A	c.(2794-2796)TCT>TAT	p.S932Y	RABGAP1_uc004bnl.3_RNA|RABGAP1_uc011lzj.1_Missense_Mutation_p.S271Y	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	932	Potential.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						AAAAACAGTTCTATCATTGGT	0.438													A	125861055	C	A	125861055	3	1	104	1	0	0	0	0	1	0	0	0	12964	913	32	5	2881	5	RABGAP1	9	125861055	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	102666	125861055	15352376	3672	70286											
STRBP	55342	broad.mit.edu	37	chr9	125935984	125935984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaataggaagattatctttgActgtatttaacagggtctct	9	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:125935984A>G	uc004bns.2	-	5	792	c.362T>C	c.(361-363)GTC>GCC	p.V121A	STRBP_uc004bnt.2_5'UTR|STRBP_uc004bnu.2_Missense_Mutation_p.V107A|STRBP_uc004bnv.2_Missense_Mutation_p.V121A	NM_018387	NP_060857	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	121	DZF.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|skin(1)	2						ATTATCTTTGACTGTATTTAA	0.378													G	125935984	A	G	125935984	3	3	104	1	0	0	0	0	1	0	0	0	15326	275	10	3	1716	3	STRBP	9	125935984	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	74929	125935984	15277447	3673	70287											
LHX2	9355	broad.mit.edu	37	chr9	126777465	126777465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcctcggagatggtgatgCgcgctcgggacttggtttat	16	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:126777465C>T	uc004boe.1	+	3	1127	c.388C>T	c.(388-390)CGC>TGC	p.R130C	LHX2_uc010mwi.1_Missense_Mutation_p.R138C	NM_004789	NP_004780	P50458	LHX2_HUMAN	LIM homeobox protein 2	130	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GATGGTGATGCGCGCTCGGGA	0.622													T	126777465	C	T	126777465	3	4	104	1	0	0	0	0	1	0	0	0	8771	768	27	1	398	1	LHX2	9	126777465	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	841481	126777465	14435966	3674	70288											
NR6A1	2649	broad.mit.edu	37	chr9	127289152	127289152	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagaggtagatgagccgctcGatcacctccatcccttcatc	8	14	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:127289152G>A	uc004bor.1	-	8	1285	c.1107C>T	c.(1105-1107)ATC>ATT	p.I369I	NR6A1_uc004boq.1_Silent_p.I364I|NR6A1_uc010mwq.1_Silent_p.I365I	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	369					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						TGAGCCGCTCGATCACCTCCA	0.483													A	127289152	G	A	127289152	2	1	104	1	0	0	0	0	0	0	0	1	10637	1048	37	1		1	NR6A1	9	127289152	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	511687	127289152	13924279	3675	70289											
GOLGA1	2800	broad.mit.edu	37	chr9	127684102	127684102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcaactcctcctgggtacGactaagttctctggttcgtg	9	12	2	0	rs149867372		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:127684102G>A	uc004bpc.2	-	9	973	c.631C>T	c.(631-633)CGT>TGT	p.R211C	GOLGA1_uc010mws.2_RNA|GOLGA1_uc010mwt.1_Missense_Mutation_p.R186C	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	golgin 97	211	Potential.					Golgi cisterna membrane				ovary(1)	1						TCCTGGGTACGACTAAGTTCT	0.418													A	127684102	G	A	127684102	3	1	104	1	0	0	0	0	1	0	0	0	6551	1058	37	1	1732	1	GOLGA1	9	127684102	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	394950	127684102	13529329	3676	70290											
GAPVD1	26130	broad.mit.edu	37	chr9	128086089	128086089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctctaggtccttcaaatcGctccaattcagtgtcctccc	5	15	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:128086089G>A	uc010mwx.2	+	11	2071	c.1745G>A	c.(1744-1746)CGC>CAC	p.R582H	GAPVD1_uc011lzs.1_Missense_Mutation_p.R582H|GAPVD1_uc004bpp.2_Missense_Mutation_p.R582H|GAPVD1_uc004bpq.2_Missense_Mutation_p.R582H|GAPVD1_uc004bpr.2_Missense_Mutation_p.R561H|GAPVD1_uc004bps.2_Missense_Mutation_p.R582H|GAPVD1_uc010mwy.1_Missense_Mutation_p.R441H	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	582					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						CCTTCAAATCGCTCCAATTCA	0.418													A	128086089	G	A	128086089	3	1	104	1	0	0	0	0	1	0	0	0	6239	1087	38	1	1775	1	GAPVD1	9	128086089	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	401987	128086089	13127342	3677	70291											
ANGPTL2	23452	broad.mit.edu	37	chr9	129870556	129870556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctgggagagctccaacGcgttgtcccgcttgcggatg	14	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:129870556G>A	uc004bqr.1	-	2	955	c.455C>T	c.(454-456)GCG>GTG	p.A152V	RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_Intron	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2 precursor	152	Potential.				multicellular organismal development|signal transduction	extracellular space	receptor binding				0						GAGCTCCAACGCGTTGTCCCG	0.597													A	129870556	G	A	129870556	3	1	104	1	0	0	0	0	1	0	0	0	614	1087	38	1	1042	1	ANGPTL2	9	129870556	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1784467	129870556	11342875	3678	70292											
RALGPS1	9649	broad.mit.edu	37	chr9	129974967	129974967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccctcctgtactacggagCcaagtccttgcggggcacag	11	15	0	0	rs138132214		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:129974967C>T	uc004bqo.1	+	16	1682	c.1415C>T	c.(1414-1416)GCC>GTC	p.A472V	RALGPS1_uc011mac.1_Missense_Mutation_p.A430V|RALGPS1_uc004bqq.3_Missense_Mutation_p.A430V	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	472	Required for stimulation of nucleotide exchange by RALA.|PH.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			ovary(1)	1						TACTACGGAGCCAAGTCCTTG	0.567													T	129974967	C	T	129974967	3	4	104	1	0	0	0	0	1	0	0	0	13017	739	26	2	1473	2	RALGPS1	9	129974967	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	104411	129974967	11238464	3679	70293											
SH2D3C	10044	broad.mit.edu	37	chr9	130536742	130536742	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccaaagcccttgaacttgaaGaactctagcagaggggaagg	12	9	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:130536742G>A	uc004bsc.2	-	2	184	c.42C>T	c.(40-42)TTC>TTT	p.F14F	SH2D3C_uc004bsd.1_5'UTR	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	14					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						TGAACTTGAAGAACTCTAGCA	0.488													A	130536742	G	A	130536742	2	1	104	1	0	0	0	0	0	0	0	1	14234	933	33	4		4	SH2D3C	9	130536742	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	561775	130536742	10676689	3680	70294											
FPGS	2356	broad.mit.edu	37	chr9	130569902	130569902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtctcctctcttggcatcGaccacaccagcctcctgggg	10	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:130569902G>A	uc004bsg.1	+	8	729	c.679G>A	c.(679-681)GAC>AAC	p.D227N	FPGS_uc004bsh.1_Missense_Mutation_p.D44N|FPGS_uc011mal.1_Missense_Mutation_p.D201N|FPGS_uc004bsi.1_Missense_Mutation_p.D177N	NM_004957	NP_004948	Q05932	FOLC_HUMAN	folylpolyglutamate synthase isoform a precursor	227					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity				0					L-Glutamic Acid(DB00142)	TCTTGGCATCGACCACACCAG	0.532													A	130569902	G	A	130569902	3	1	104	1	0	0	0	0	1	0	0	0	6036	1058	37	1	709	1	FPGS	9	130569902	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	33160	130569902	10643529	3681	70295											
SLC25A25	114789	broad.mit.edu	37	chr9	130860921	130860921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtactttgagtcgaaggggCtccctgccgagctgaagtcc	13	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:130860921C>T	uc004bte.2	+	1	105	c.76C>T	c.(76-78)CTC>TTC	p.L26F	SLC25A25_uc004btb.2_Intron|SLC25A25_uc004btc.2_Intron|SLC25A25_uc004btd.2_Intron|SLC25A25_uc004btf.2_5'UTR	NM_052901	NP_443133	Q6KCM7	SCMC2_HUMAN	solute carrier family 25, member 25 isoform a	26	Mitochondrial intermembrane (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding				0						GTCGAAGGGGCTCCCTGCCGA	0.597													T	130860921	C	T	130860921	3	4	104	1	0	0	0	0	1	0	0	0	14488	797	28	2	566	2	SLC25A25	9	130860921	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	291019	130860921	10352510	3682	70296											
SLC27A4	10999	broad.mit.edu	37	chr9	131107806	131107806	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgcgcgcacgggcccttgtCtttggcagcgaaatggcctc	13	14	1	0	rs149776553		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:131107806C>A	uc004but.2	+	3	818	c.534C>A	c.(532-534)GTC>GTA	p.V178V	SLC27A4_uc004buu.2_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	178					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0						GGGCCCTTGTCTTTGGCAGCG	0.647													A	131107806	C	A	131107806	2	1	104	1	0	0	0	0	0	0	0	1	14528	900	32	5		5	SLC27A4	9	131107806	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	246885	131107806	10105625	3683	70297											
ZER1	10444	broad.mit.edu	37	chr9	131503881	131503881	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcgcagttgtcaggagttTcatctgtgatgttccacagg	11	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:131503881T>G	uc004bwa.1	-	11	2103	c.1670A>C	c.(1669-1671)GAA>GCA	p.E557A		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	557					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						GTCAGGAGTTTCATCTGTGAT	0.577													G	131503881	T	G	131503881	3	3	104	1	0	0	0	0	1	0	0	0	17622	1783	62	5	654	5	ZER1	9	131503881	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	396075	131503881	9709550	3684	70298											
TBC1D13	54662	broad.mit.edu	37	chr9	131565546	131565546	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagatgagctccccacacaaGaactctgtgccatcatccct	6	16	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:131565546G>T	uc010myj.2	+	8	684	c.561G>T	c.(559-561)AAG>AAT	p.K187N	TBC1D13_uc010myk.2_Intron|TBC1D13_uc010myl.2_Missense_Mutation_p.K6N	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	187	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0						CCCCACACAAGAACTCTGTGC	0.458													T	131565546	G	T	131565546	3	4	104	1	0	0	0	0	1	0	0	0	15599	933	33	5	591	5	TBC1D13	9	131565546	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	61665	131565546	9647885	3685	70299											
PHYHD1	254295	broad.mit.edu	37	chr9	131703788	131703788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaacctctctgaccgctcGcgccaggcctacactttcca	7	18	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:131703788G>A	uc004bwo.2	+	12	1701	c.768G>A	c.(766-768)TCG>TCA	p.S256S	PHYHD1_uc004bwn.2_Missense_Mutation_p.R249H|PHYHD1_uc004bwm.2_RNA|PHYHD1_uc004bwp.2_Silent_p.S235S|NUP188_uc004bwq.1_5'UTR	NM_001100876	NP_001094346	Q5SRE7	PHYD1_HUMAN	phytanoyl-CoA dioxygenase domain containing 1	256							metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CTGACCGCTCGCGCCAGGCCT	0.617													A	131703788	G	A	131703788	2	1	104	1	0	0	0	0	0	0	0	1	11865	1087	38	1		1	PHYHD1	9	131703788	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	138242	131703788	9509643	3686	70300											
DOLK	22845	broad.mit.edu	37	chr9	131708138	131708138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctacagaaatgatctgcGcaaatatagatgtcatggtc	10	7	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:131708138G>A	uc004bwr.2	-	1	1875	c.1445C>T	c.(1444-1446)GCG>GTG	p.A482V	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	dolichol kinase	482	Helical; (Potential).				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity				0						AATGATCTGCGCAAATATAGA	0.488													A	131708138	G	A	131708138	3	1	104	1	0	0	0	0	1	0	0	0	4703	1087	38	1	175	1	DOLK	9	131708138	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4350	131708138	9505293	3687	70301											
DOLK	22845	broad.mit.edu	37	chr9	131708450	131708450	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaggcttgatgcggaagTagcgcacatactccaggaag	12	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:131708450T>C	uc004bwr.2	-	1	1563	c.1133A>G	c.(1132-1134)TAC>TGC	p.Y378C	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	dolichol kinase	378	Helical; (Potential).				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity				0						GATGCGGAAGTAGCGCACATA	0.527													C	131708450	T	C	131708450	3	2	104	1	0	0	0	0	1	0	0	0	4703	1638	57	3	487	3	DOLK	9	131708450	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	312	131708450	9504981	3688	70302											
NUP188	23511	broad.mit.edu	37	chr9	131730975	131730975	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggtggatgagactatggAtccttttgtagatcggattg	13	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:131730975A>G	uc004bws.1	+	9	798	c.776A>G	c.(775-777)GAT>GGT	p.D259G		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	259					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						GAGACTATGGATCCTTTTGTA	0.428													G	131730975	A	G	131730975	3	3	104	1	0	0	0	0	1	0	0	0	10758	333	12	3	810	3	NUP188	9	131730975	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	22525	131730975	9482456	3689	70303											
NUP188	23511	broad.mit.edu	37	chr9	131747191	131747191	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttccagtgcggaagggatGaatgctggagggtacggaaa	16	5	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:131747191G>A	uc004bws.1	+	20	1996	c.1974G>A	c.(1972-1974)ATG>ATA	p.M658I	NUP188_uc004bwu.2_Missense_Mutation_p.M1I	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	658					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						CGGAAGGGATGAATGCTGGAG	0.433											OREG0003924	type=REGULATORY REGION|Gene=NUP188|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	131747191	G	A	131747191	3	1	104	1	0	0	0	0	1	0	0	0	10758	1290	45	4	2052	4	NUP188	9	131747191	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	16216	131747191	9466240	3690	70304											
NUP188	23511	broad.mit.edu	37	chr9	131761490	131761490	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatccttggacccttgacGgagatcctggagggagtgct	14	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:131761490G>A	uc004bws.1	+	33	3577	c.3555G>A	c.(3553-3555)ACG>ACA	p.T1185T	NUP188_uc004bwu.2_Silent_p.T528T	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1185					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						GACCCTTGACGGAGATCCTGG	0.398											OREG0003925	type=REGULATORY REGION|Gene=AK025292|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	131761490	G	A	131761490	2	1	104	1	0	0	0	0	0	0	0	1	10758	1103	39	1		1	NUP188	9	131761490	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	14299	131761490	9451941	3691	70305											
TOR1A	1861	broad.mit.edu	37	chr9	132584974	132584974	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgcgatgatcttgctgacGaaatttttgccggtgcctgt	11	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:132584974G>A	uc004byl.2	-	2	407	c.330C>T	c.(328-330)TTC>TTT	p.F110F	TOR1A_uc004bym.2_RNA|TOR1A_uc004byn.2_Silent_p.F110F	NM_000113	NP_000104	O14656	TOR1A_HUMAN	torsin A precursor	110					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)	1		Ovarian(14;0.00556)				TCTTGCTGACGAAATTTTTGC	0.468													A	132584974	G	A	132584974	2	1	104	1	0	0	0	0	0	0	0	1	16368	1049	37	1		1	TOR1A	9	132584974	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	823484	132584974	8628457	3692	70306											
USP20	10868	broad.mit.edu	37	chr9	132618599	132618599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacacagggaacctgtcagtCgtgtggggtcaccggaccaa	13	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:132618599C>T	uc004bys.2	+	4	306	c.95C>T	c.(94-96)TCG>TTG	p.S32L	USP20_uc004byr.2_Missense_Mutation_p.S32L|USP20_uc004byt.1_Missense_Mutation_p.S32L	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	32	UBP-type.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)				ACCTGTCAGTCGTGTGGGGTC	0.587													T	132618599	C	T	132618599	3	4	104	1	0	0	0	0	1	0	0	0	17049	893	31	1	101	1	USP20	9	132618599	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	33625	132618599	8594832	3693	70307											
FNBP1	23048	broad.mit.edu	37	chr9	132658222	132658222	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccatcgcctttgtcttcctCtatgacatacaatgtttctc	5	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:132658222C>T	uc004byw.1	-	16	1960	c.1741G>A	c.(1741-1743)GAG>AAG	p.E581K	FNBP1_uc011mbv.1_Missense_Mutation_p.E571K|FNBP1_uc011mbw.1_Missense_Mutation_p.E576K|FNBP1_uc004bza.2_Missense_Mutation_p.E515K|FNBP1_uc004byz.1_Missense_Mutation_p.E552K|FNBP1_uc004byv.1_5'Flank|FNBP1_uc011mbu.1_Missense_Mutation_p.E209K|FNBP1_uc004byx.1_Missense_Mutation_p.E497K|FNBP1_uc004byy.1_Missense_Mutation_p.E487K	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN	formin binding protein 1	581	Required for self-association and induction of membrane tubulation.|Interaction with FASLG.|SH3.|Interaction with PDE6G (By similarity).|Interaction with DNM1 and DNM3.|Required for interaction with TNKS.|Interaction with DNM2 and WASL.|Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding				0		Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTGTCTTCCTCTATGACATAC	0.428			T	MLL	AML								T	132658222	C	T	132658222	3	4	104	1	0	0	0	0	1	0	0	0	5965	922	32	4	120	4	FNBP1	9	132658222	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	39623	132658222	8555209	3694	70308											
FNBP1	23048	broad.mit.edu	37	chr9	132665242	132665242	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtctcccatctgaggaTtctttaggtagacatctttc	9	10	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:132665242T>C	uc004byw.1	-	13	1553	c.1334A>G	c.(1333-1335)AAT>AGT	p.N445S	FNBP1_uc011mbv.1_Missense_Mutation_p.N435S|FNBP1_uc011mbw.1_Missense_Mutation_p.N440S|FNBP1_uc004bza.2_Missense_Mutation_p.N379S|FNBP1_uc004byz.1_Missense_Mutation_p.N416S|FNBP1_uc011mbu.1_Missense_Mutation_p.N73S|FNBP1_uc004byx.1_Missense_Mutation_p.N361S|FNBP1_uc004byy.1_Missense_Mutation_p.N351S	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN	formin binding protein 1	445	Required for self-association and induction of membrane tubulation.|Interaction with RND2 (By similarity).|REM.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding				0		Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CATCTGAGGATTCTTTAGGTA	0.358			T	MLL	AML								C	132665242	T	C	132665242	3	2	104	1	0	0	0	0	1	0	0	0	5965	1493	52	3	539	3	FNBP1	9	132665242	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	7020	132665242	8548189	3695	70309											
GPR107	57720	broad.mit.edu	37	chr9	132866788	132866788	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggactctctatttctggtCgacctgttgtgttgtggtgc	12	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:132866788C>T	uc004bze.2	+	13	1448	c.1221C>T	c.(1219-1221)GTC>GTT	p.V407V	GPR107_uc004bzb.2_Silent_p.V218V|GPR107_uc004bzc.3_RNA|GPR107_uc011mbx.1_Silent_p.V407V|GPR107_uc004bzd.2_Silent_p.V407V	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107 isoform 1	407	Helical; Name=5; (Potential).					integral to membrane				upper_aerodigestive_tract(1)	1		Ovarian(14;0.000531)				TATTTCTGGTCGACCTGTTGT	0.532													T	132866788	C	T	132866788	2	4	104	1	0	0	0	0	0	0	0	1	6623	871	31	1		1	GPR107	9	132866788	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	201546	132866788	8346643	3696	70310											
LAMC3	10319	broad.mit.edu	37	chr9	133920995	133920995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggccactccaaggtgtgCgcgtccactgcccagttcca	10	15	0	0	rs143375693	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:133920995C>T	uc004caa.1	+	8	1565	c.1467C>T	c.(1465-1467)TGC>TGT	p.C489C		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	489	Laminin EGF-like 5; first part.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCAAGGTGTGCGCGTCCACTG	0.597													T	133920995	C	T	133920995	2	4	104	1	0	0	0	0	0	0	0	1	8616	776	27	1		1	LAMC3	9	133920995	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1054207	133920995	7292436	3697	70311											
UCK1	83549	broad.mit.edu	37	chr9	134401365	134401365	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acatcggcatacttctttgtCtgtaaggcacaagggggggt	13	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:134401365C>T	uc004cay.2	-	6	705	c.604_splice	c.e6-1	p.T202_splice	UCK1_uc010mzk.2_Splice_Site_p.T193_splice|UCK1_uc004cba.2_Splice_Site_p.D170_splice|UCK1_uc004caz.2_Splice_Site	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1 isoform a						pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		ACTTCTTTGTCTGTAAGGCAC	0.562													T	134401365	C	T	134401365	5	4	104	1	0	0	0	0	0	0	1	0	16920	927	32	4	238	4	UCK1	9	134401365	Splice_Site	SNP	C	TCGA-BR-8680-01A-11D-2394-08	480370	134401365	6812066	3698	70312											
RAPGEF1	2889	broad.mit.edu	37	chr9	134497187	134497187	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggtgtcactcaccagcTgccgctgcttggggggtagg	17	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:134497187T>G	uc004cbc.2	-	11	1980	c.1850A>C	c.(1849-1851)CAG>CCG	p.Q617P	RAPGEF1_uc004cbb.2_Missense_Mutation_p.Q635P|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Missense_Mutation_p.Q622P|RAPGEF1_uc004cbd.2_Missense_Mutation_p.Q622P|RAPGEF1_uc010mzs.1_Missense_Mutation_p.Q63P|RAPGEF1_uc010mzl.1_Missense_Mutation_p.Q63P|RAPGEF1_uc010mzo.1_Missense_Mutation_p.Q63P|RAPGEF1_uc010mzp.1_Missense_Mutation_p.Q63P|RAPGEF1_uc010mzq.1_Missense_Mutation_p.Q63P|RAPGEF1_uc010mzr.1_Missense_Mutation_p.Q63P	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	617	SH3-binding.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		ACTCACCAGCTGCCGCTGCTT	0.617													G	134497187	T	G	134497187	3	3	104	1	0	0	0	0	1	0	0	0	13043	1580	55	5	1439	5	RAPGEF1	9	134497187	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	95822	134497187	6716244	3699	70313											
NTNG2	84628	broad.mit.edu	37	chr9	135073374	135073374	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatccctacctatgcagcAacgagtgtgacgcctccaac	8	14	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:135073374A>G	uc004cbh.2	+	3	1011	c.235A>G	c.(235-237)AAC>GAC	p.N79D		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	79	Laminin N-terminal.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CCTATGCAGCAACGAGTGTGA	0.657													G	135073374	A	G	135073374	3	3	104	1	0	0	0	0	1	0	0	0	10705	130	5	3	241	3	NTNG2	9	135073374	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	576187	135073374	6140057	3700	70314											
SETX	23064	broad.mit.edu	37	chr9	135150684	135150684	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccaaatccttctgaatcatCgtcttctgggccttgtaatg	7	11	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:135150684C>T	uc004cbk.2	-	23	7242	c.7059G>A	c.(7057-7059)ACG>ACA	p.T2353T	SETX_uc004cbj.2_Silent_p.T1972T|SETX_uc010mzt.2_Silent_p.T1972T	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	2353					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCTGAATCATCGTCTTCTGGG	0.318													T	135150684	C	T	135150684	2	4	104	1	0	0	0	0	0	0	0	1	14141	871	31	1		1	SETX	9	135150684	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	77310	135150684	6062747	3701	70315											
SETX	23064	broad.mit.edu	37	chr9	135204697	135204697	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcctttaaagagaaatctTcattcgatgtggacactttt	6	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:135204697T>G	uc004cbk.2	-	10	2471	c.2288A>C	c.(2287-2289)GAA>GCA	p.E763A	SETX_uc004cbj.2_Missense_Mutation_p.E382A|SETX_uc010mzt.2_Missense_Mutation_p.E382A	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	763					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AGAGAAATCTTCATTCGATGT	0.363													G	135204697	T	G	135204697	3	3	104	1	0	0	0	0	1	0	0	0	14141	1783	62	5	5813	5	SETX	9	135204697	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	54013	135204697	6008734	3702	70316											
SETX	23064	broad.mit.edu	37	chr9	135221766	135221766	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatctctccattattgtcTactatatataactcatcatc	3	11	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:135221766T>C	uc004cbk.2	-	4	453	c.270A>G	c.(268-270)GTA>GTG	p.V90V		NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	90					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CATTATTGTCTACTATATATA	0.358													C	135221766	T	C	135221766	2	2	104	1	0	0	0	0	0	0	0	1	14141	1509	53	3		3	SETX	9	135221766	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	17069	135221766	5991665	3703	70317											
TTF1	7270	broad.mit.edu	37	chr9	135251430	135251430	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcttcataataaaagatgtCtcgaaatgggaaaacttgct	8	6	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:135251430C>T	uc004cbl.2	-	11	2642	c.2590G>A	c.(2590-2592)GAC>AAC	p.D864N	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Missense_Mutation_p.D349N	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	864					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TAAAAGATGTCTCGAAATGGG	0.303													T	135251430	C	T	135251430	3	4	104	1	0	0	0	0	1	0	0	0	16715	913	32	4	131	4	TTF1	9	135251430	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	29664	135251430	5962001	3704	70318											
C9orf7	11094	broad.mit.edu	37	chr9	136330477	136330477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttgttgctgtgtgaggcGcccttctgctgccagttcat	11	11	3	1	rs149884279		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:136330477G>A	uc011mdg.1	+	3	330	c.228G>A	c.(226-228)GCG>GCA	p.A76A	C9orf7_uc004cec.2_Intron|C9orf7_uc011mdh.1_Silent_p.A76A|C9orf7_uc011mdi.1_Intron|C9orf7_uc010nan.2_RNA	NM_017586	NP_060056	Q9UGQ2	FLOWR_HUMAN	hypothetical protein LOC11094 isoform a	76	Helical; (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(294;5.7e-39)|all cancers(34;1.83e-23)|OV - Ovarian serous cystadenocarcinoma(145;8.94e-08)|Epithelial(140;1.01e-06)		TGTGTGAGGCGCCCTTCTGCT	0.607													A	136330477	G	A	136330477	2	1	104	1	0	0	0	0	0	0	0	1	2493	1074	38	1		1	C9orf7	9	136330477	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1079047	136330477	4882954	3705	70319											
ADAMTSL2	9719	broad.mit.edu	37	chr9	136412278	136412278	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cggcccatggatgtctatgaGaccggaatcgagtacatcgt	12	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:136412278G>T	uc011mdl.1	+	9	1439	c.882G>T	c.(880-882)GAG>GAT	p.E294D	ADAMTSL2_uc004cei.2_Missense_Mutation_p.E294D	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN	ADAMTS-like 2 precursor	294					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		ATGTCTATGAGACCGGAATCG	0.602													T	136412278	G	T	136412278	3	4	104	1	0	0	0	0	1	0	0	0	275	933	33	5	912	5	ADAMTSL2	9	136412278	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	81801	136412278	4801153	3706	70320											
DBH	1621	broad.mit.edu	37	chr9	136508639	136508639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccacttcagcgggccctgCgactccaagatgaaacccga	9	17	1	2	rs78200745		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:136508639C>T	uc004cel.2	+	4	858	c.849C>T	c.(847-849)TGC>TGT	p.C283C		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	283	Intragranular (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GCGGGCCCTGCGACTCCAAGA	0.662													T	136508639	C	T	136508639	2	4	104	1	0	0	0	0	0	0	0	1	4250	776	27	1		1	DBH	9	136508639	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	96361	136508639	4704792	3707	70321											
DBH	1621	broad.mit.edu	37	chr9	136509381	136509381	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccggccttgccttcgggggTccagggtcctccagatatct	13	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:136509381T>C	uc004cel.2	+	5	972	c.963T>C	c.(961-963)GGT>GGC	p.G321G		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	321	Intragranular (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCTTCGGGGGTCCAGGGTCCT	0.607													C	136509381	T	C	136509381	2	2	104	1	0	0	0	0	0	0	0	1	4250	1654	58	3		3	DBH	9	136509381	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	742	136509381	4704050	3708	70322											
BRD3	8019	broad.mit.edu	37	chr9	136913345	136913345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catctccctgaggatgctgtCgcagtagcgtaggtgctccg	13	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:136913345C>T	uc004cew.2	-	6	1134	c.946G>A	c.(946-948)GAC>AAC	p.D316N	BRD3_uc004cex.2_Missense_Mutation_p.D316N	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	316						nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AGGATGCTGTCGCAGTAGCGT	0.637			T	NUT|C15orf55	lethal midline carcinoma of young people								T	136913345	C	T	136913345	3	4	104	1	0	0	0	0	1	0	0	0	1503	884	31	1	1262	1	BRD3	9	136913345	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	403964	136913345	4300086	3709	70323											
COL5A1	1289	broad.mit.edu	37	chr9	137630640	137630640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcccactggccaagtcgggGaccctggagaaagggtaaga	15	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:137630640G>A	uc004cfe.2	+	11	1862	c.1480G>A	c.(1480-1482)GAC>AAC	p.D494N		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	494	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAAGTCGGGGACCCTGGAGA	0.572													A	137630640	G	A	137630640	3	1	104	1	0	0	0	0	1	0	0	0	3696	1174	41	4	1522	4	COL5A1	9	137630640	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	717295	137630640	3582791	3710	70324											
CAMSAP1	157922	broad.mit.edu	37	chr9	138706958	138706958	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttgcctccaatatggaattCttgtggggttcgttcacttt	9	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:138706958C>A	uc004cgr.3	-	16	4491	c.4491G>T	c.(4489-4491)AAG>AAT	p.K1497N	CAMSAP1_uc004cgq.3_Missense_Mutation_p.K1387N|CAMSAP1_uc010nbg.2_Missense_Mutation_p.K1219N	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1497	CKK.					cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		ATATGGAATTCTTGTGGGGTT	0.383													A	138706958	C	A	138706958	3	1	104	1	0	0	0	0	1	0	0	0	2611	912	32	5	325	5	CAMSAP1	9	138706958	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1076318	138706958	2506473	3711	70325											
SEC16A	9919	broad.mit.edu	37	chr9	139371654	139371654	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccgacctctgcactcctgttCatctcaggcccaggaggtgc	10	16	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:139371654C>A	uc004chx.2	-	3	723	c.414G>T	c.(412-414)ATG>ATT	p.M138I	SEC16A_uc004chv.3_5'Flank|SEC16A_uc004chw.2_Missense_Mutation_p.M138I|SEC16A_uc010nbn.2_Missense_Mutation_p.M138I|SEC16A_uc010nbo.1_Missense_Mutation_p.M138I	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CACTCCTGTTCATCTCAGGCC	0.557													A	139371654	C	A	139371654	3	1	104	1	0	0	0	0	1	0	0	0	13986	826	29	5	6779	5	SEC16A	9	139371654	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	664696	139371654	1841777	3712	70326											
NOTCH1	4851	broad.mit.edu	37	chr9	139391777	139391777	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagccgttgggcgagcagagCgggggcgacagggtgggcgt	22	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:139391777C>T	uc004chz.2	-	34	6414	c.6414G>A	c.(6412-6414)CCG>CCA	p.P2138P		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2138	Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGAGCAGAGCGGGGGCGACA	0.692			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			T	139391777	C	T	139391777	2	4	104	1	0	0	0	0	0	0	0	1	10547	755	27	1		1	NOTCH1	9	139391777	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	20123	139391777	1821654	3713	70327											
FAM69B	138311	broad.mit.edu	37	chr9	139617800	139617800	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctcttccacggctcttaCgggactttctacatgtgtga	10	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:139617800C>T	uc004cik.2	+	5	964	c.870C>T	c.(868-870)TAC>TAT	p.Y290Y	FAM69B_uc004cil.2_Silent_p.Y203Y|SNHG7_uc004cim.2_Intron	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	hypothetical protein LOC138311	290	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		ACGGCTCTTACGGGACTTTCT	0.632													T	139617800	C	T	139617800	2	4	104	1	0	0	0	0	0	0	0	1	5603	547	19	1		1	FAM69B	9	139617800	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	226023	139617800	1595631	3714	70328											
LCN10	414332	broad.mit.edu	37	chr9	139637344	139637344	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagcgccagcaccagcagCccctgcctcatcttcaccct	6	21	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:139637344C>T	uc010nbq.2	-	1	71	c.12G>A	c.(10-12)GGG>GGA	p.G4G	LCN10_uc004civ.2_Silent_p.G4G|LCN10_uc011med.1_RNA|LCN10_uc011mee.1_Silent_p.G4G|LCN10_uc011mef.1_RNA|LCN10_uc004ciw.2_RNA			Q6JVE6	LCN10_HUMAN	SubName: Full=LCN10 protein;	4					transport	extracellular region	binding			large_intestine(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		gcaccagcagcccctgcctca	0.408													T	139637344	C	T	139637344	2	4	104	1	0	0	0	0	0	0	0	1	8681	726	26	2		2	LCN10	9	139637344	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	19544	139637344	1576087	3715	70329											
LCN15	389812	broad.mit.edu	37	chr9	139658209	139658209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccaccttcaggtactcgGcatccacctggttacagccg	9	16	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:139658209G>A	uc004cjd.2	-	3	288	c.263C>T	c.(262-264)GCC>GTC	p.A88V		NM_203347	NP_976222	Q6UWW0	LCN15_HUMAN	lipocalin 15 precursor	88					lipid metabolic process	extracellular region	binding|transporter activity				0						CAGGTACTCGGCATCCACCTG	0.672													A	139658209	G	A	139658209	3	1	104	1	0	0	0	0	1	0	0	0	8683	1203	42	2	307	2	LCN15	9	139658209	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	20865	139658209	1555222	3716	70330											
NDOR1	27158	broad.mit.edu	37	chr9	140108241	140108241	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtctccacaggttcaacttCgtggccaagaagctgcaccg	10	13	2	1	rs144473922		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:140108241C>T	uc004clw.2	+	4	432	c.321C>T	c.(319-321)TTC>TTT	p.F107F	NDOR1_uc004clx.2_Silent_p.F107F|NDOR1_uc011mes.1_Silent_p.F107F|NDOR1_uc004cly.2_Silent_p.F107F	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	107	FMN (By similarity).|Flavodoxin-like.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGTTCAACTTCGTGGCCAAGA	0.682													T	140108241	C	T	140108241	2	4	104	1	0	0	0	0	0	0	0	1	10249	883	31	1		1	NDOR1	9	140108241	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	450032	140108241	1105190	3717	70331											
FAM166A	401565	broad.mit.edu	37	chr9	140140191	140140191	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttgggtttggacatgggGgacagcacagagcaggggct	17	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:140140191G>A	uc004cmi.1	-	2	226	c.171C>T	c.(169-171)TCC>TCT	p.S57S		NM_001001710	NP_001001710	Q6J272	F166A_HUMAN	hypothetical protein LOC401565	57										ovary(1)	1						TGGACATGGGGGACAGCACAG	0.617													A	140140191	G	A	140140191	2	1	104	1	0	0	0	0	0	0	0	1	5481	1219	43	4		4	FAM166A	9	140140191	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	31950	140140191	1073240	3718	70332											
EHMT1	79813	broad.mit.edu	37	chr9	140646849	140646849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaggaggaaggcggtgacGagtctgacctggtaatgccc	17	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:140646849G>A	uc011mfc.1	+	7	1274	c.1237G>A	c.(1237-1239)GAG>AAG	p.E413K	EHMT1_uc004coa.2_Missense_Mutation_p.E413K|EHMT1_uc004cob.1_Missense_Mutation_p.E382K	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	413					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGGCGGTGACGAGTCTGACCT	0.592													A	140646849	G	A	140646849	3	1	104	1	0	0	0	0	1	0	0	0	4983	1059	37	1	1263	1	EHMT1	9	140646849	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	506658	140646849	566582	3719	70333											
EHMT1	79813	broad.mit.edu	37	chr9	140671280	140671280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggccctggagggcagggccGacaccacaacgggcaggtac	16	14	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:140671280G>A	uc011mfc.1	+	12	2039	c.2002G>A	c.(2002-2004)GAC>AAC	p.D668N	EHMT1_uc004coa.2_Missense_Mutation_p.D668N|EHMT1_uc004cob.1_Missense_Mutation_p.D637N	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	668					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GGGCAGGGCCGACACCACAAC	0.592													A	140671280	G	A	140671280	3	1	104	1	0	0	0	0	1	0	0	0	4983	1058	37	1	2048	1	EHMT1	9	140671280	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	24431	140671280	542151	3720	70334											
CACNA1B	774	broad.mit.edu	37	chr9	140777318	140777318	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctggaacgtcatggacttCgtggtcgtcctcacagggta	14	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:140777318C>T	uc004cog.2	+	3	658	c.513C>T	c.(511-513)TTC>TTT	p.F171F	uc004cof.1_RNA	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	171	Helical; Name=S3 of repeat I; (Potential).|I.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCATGGACTTCGTGGTCGTCC	0.607													T	140777318	C	T	140777318	2	4	104	1	0	0	0	0	0	0	0	1	2539	883	31	1		1	CACNA1B	9	140777318	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	106038	140777318	436113	3721	70335											
CACNA1B	774	broad.mit.edu	37	chr9	140954118	140954118	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttctctagaactatttcagaGatgcctggaatgtctttgac	8	8	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:140954118G>A	uc004cog.2	+	31	4742	c.4597G>A	c.(4597-4599)GAT>AAT	p.D1533N	CACNA1B_uc011mfd.1_Missense_Mutation_p.D1063N|CACNA1B_uc004coi.2_Missense_Mutation_p.D747N	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1533	Cytoplasmic (Potential).|IV.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTATTTCAGAGATGCCTGGAA	0.433													A	140954118	G	A	140954118	3	1	104	1	0	0	0	0	1	0	0	0	2539	942	33	4	4719	4	CACNA1B	9	140954118	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	176800	140954118	259313	3722	70336											
CACNA1B	774	broad.mit.edu	37	chr9	140972701	140972701	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctccttcatcttcctgtgCtcctttctggtgagtcctgg	9	13	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:140972701C>T	uc004cog.2	+	35	5230	c.5085C>T	c.(5083-5085)TGC>TGT	p.C1695C	CACNA1B_uc004coi.2_Silent_p.C907C|CACNA1B_uc004cok.1_RNA|CACNA1B_uc010ncp.1_Silent_p.C50C	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1695	Helical; Name=S6 of repeat IV; (Potential).|IV.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCTTCCTGTGCTCCTTTCTGG	0.567													T	140972701	C	T	140972701	2	4	104	1	0	0	0	0	0	0	0	1	2539	805	28	2		2	CACNA1B	9	140972701	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	18583	140972701	240730	3723	70337											
CACNA1B	774	broad.mit.edu	37	chr9	141016245	141016245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtgaggcctctgtccacGccctgcctgaggacactctc	10	16	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr9:141016245G>A	uc004cog.2	+	46	6959	c.6814G>A	c.(6814-6816)GCC>ACC	p.A2272T	CACNA1B_uc004coi.2_Missense_Mutation_p.A1484T	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	2272	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTCTGTCCACGCCCTGCCTGA	0.647													A	141016245	G	A	141016245	3	1	104	1	0	0	0	0	1	0	0	0	2539	1087	38	1	6996	1	CACNA1B	9	141016245	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	43544	141016245	197186	3724	70338											
ZMYND11	10771	broad.mit.edu	37	chr10	267147	267147	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttgtaggactgggaaacaGaaaatcatgactggtattgt	11	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:267147G>A	uc010pzt.1	+	4	717	c.289G>A	c.(289-291)GAA>AAA	p.E97K	ZMYND11_uc001ifk.2_Missense_Mutation_p.E97K|ZMYND11_uc010pzu.1_Missense_Mutation_p.E97K|ZMYND11_uc010pzv.1_Intron|ZMYND11_uc010pzw.1_Intron|ZMYND11_uc001ifm.2_Intron|ZMYND11_uc010pzx.1_Missense_Mutation_p.E97K|ZMYND11_uc001ifn.2_Intron|ZMYND11_uc009xhg.2_Missense_Mutation_p.E80K|ZMYND11_uc009xhh.2_Intron|ZMYND11_uc010pzy.1_Intron	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	57					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGGGAAACAGAAAATCATGA	0.348													A	267147	G	A	267147	3	1	104	1	0	0	0	0	1	0	0	0	17703	943	33	4	299	4	ZMYND11	10	267147	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08		267147	135267600	3725	70339											
ZMYND11	10771	broad.mit.edu	37	chr10	294869	294869	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctgaaatggaagaagaaaaGagacaagctgtaaataaagc	10	4	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:294869G>A	uc010pzt.1	+	14	1955	c.1527G>A	c.(1525-1527)AAG>AAA	p.K509K	ZMYND11_uc001ifk.2_Silent_p.K508K|ZMYND11_uc010pzu.1_Silent_p.K509K|ZMYND11_uc010pzv.1_Silent_p.K454K|ZMYND11_uc010pzw.1_Silent_p.K424K|ZMYND11_uc001ifm.2_Silent_p.K455K|ZMYND11_uc010pzx.1_Silent_p.K509K|ZMYND11_uc001ifn.2_Silent_p.K455K|ZMYND11_uc009xhg.2_Silent_p.K492K|ZMYND11_uc009xhh.2_Silent_p.K383K|ZMYND11_uc010pzy.1_Silent_p.K361K	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	469	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AAGAAGAAAAGAGACAAGCTG	0.403													A	294869	G	A	294869	2	1	104	1	0	0	0	0	0	0	0	1	17703	933	33	4		4	ZMYND11	10	294869	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	27722	294869	135239878	3726	70340											
DIP2C	22982	broad.mit.edu	37	chr10	460034	460034	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctccggctttggttggttCggatccggttgttgaactaa	12	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:460034C>T	uc001ifp.2	-	8	966	c.876G>A	c.(874-876)CCG>CCA	p.P292P	DIP2C_uc009xhj.1_5'UTR	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	292						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TTGGTTGGTTCGGATCCGGTT	0.527													T	460034	C	T	460034	2	4	104	1	0	0	0	0	0	0	0	1	4529	871	31	1		1	DIP2C	10	460034	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	165165	460034	135074713	3727	70341											
LARP4B	23185	broad.mit.edu	37	chr10	871710	871710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccccggaacttgcctgcttCgaggaggatactgtctgaga	13	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:871710C>T	uc001ifs.1	-	11	1267	c.1226G>A	c.(1225-1227)CGA>CAA	p.R409Q		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	409							nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						TTGCCTGCTTCGAGGAGGATA	0.507													T	871710	C	T	871710	3	4	104	1	0	0	0	0	1	0	0	0	8631	884	31	1	1018	1	LARP4B	10	871710	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	411676	871710	134663037	3728	70342											
LARP4B	23185	broad.mit.edu	37	chr10	875374	875374	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccacgtctggggagtgAtcaggctgtacagggggaac	16	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:875374A>G	uc001ifs.1	-	10	1117	c.1076T>C	c.(1075-1077)ATC>ACC	p.I359T		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	359							nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						CTGGGGAGTGATCAGGCTGTA	0.537													G	875374	A	G	875374	3	3	104	1	0	0	0	0	1	0	0	0	8631	333	12	3	1172	3	LARP4B	10	875374	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	3664	875374	134659373	3729	70343											
LARP4B	23185	broad.mit.edu	37	chr10	910209	910209	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaccttagttgctggtAcctaggaagaaatgtaagat	10	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:910209A>G	uc001ifs.1	-	3	184	c.143T>C	c.(142-144)GTA>GCA	p.V48A		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	48							nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						AGTTGCTGGTACCTAGGAAGA	0.428													G	910209	A	G	910209	3	3	104	1	0	0	0	0	1	0	0	0	8631	405	14	3	2133	3	LARP4B	10	910209	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	34835	910209	134624538	3730	70344											
GTPBP4	23560	broad.mit.edu	37	chr10	1058589	1058589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagggacccaggatgccgcGaactgctaagaaggcaagtt	13	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:1058589G>A	uc001ift.2	+	14	1600	c.1529G>A	c.(1528-1530)CGA>CAA	p.R510Q	GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Missense_Mutation_p.R394Q|GTPBP4_uc010qae.1_Missense_Mutation_p.R463Q	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	G protein-binding protein CRFG	510					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		AGGATGCCGCGAACTGCTAAG	0.403													A	1058589	G	A	1058589	3	1	104	1	0	0	0	0	1	0	0	0	6882	1058	37	1	1583	1	GTPBP4	10	1058589	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	148380	1058589	134476158	3731	70345											
WDR37	22884	broad.mit.edu	37	chr10	1126003	1126003	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttagctgctgaaggacaagcGattgatggagcagagctgag	15	6	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:1126003G>A	uc001igf.1	+	4	461	c.288G>A	c.(286-288)GCG>GCA	p.A96A	WDR37_uc001ige.2_Silent_p.A96A|WDR37_uc009xhm.1_Silent_p.A96A|WDR37_uc009xhn.1_RNA|WDR37_uc001igg.1_RNA	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	96											0		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		AAGGACAAGCGATTGATGGAG	0.378													A	1126003	G	A	1126003	2	1	104	1	0	0	0	0	0	0	0	1	17288	1045	37	1		1	WDR37	10	1126003	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	67414	1126003	134408744	3732	70346											
ADARB2	105	broad.mit.edu	37	chr10	1405799	1405799	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggtggggcctgtgccctcGaacgtgagcccgttcacctc	13	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:1405799G>A	uc009xhq.2	-	3	875	c.501C>T	c.(499-501)TTC>TTT	p.F167F		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	167	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CTGTGCCCTCGAACGTGAGCC	0.687													A	1405799	G	A	1405799	2	1	104	1	0	0	0	0	0	0	0	1	283	1049	37	1		1	ADARB2	10	1405799	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	279796	1405799	134128948	3733	70347											
AKR1C4	1109	broad.mit.edu	37	chr10	5242274	5242274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaagcaagattgcagatgGcagtgtgaagagagaagaca	14	6	0	6			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:5242274G>A	uc001ihw.2	+	2	248	c.215G>A	c.(214-216)GGC>GAC	p.G72D		NM_001818	NP_001809	P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	72					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			ovary(1)	1					NADH(DB00157)	ATTGCAGATGGCAGTGTGAAG	0.413													A	5242274	G	A	5242274	3	1	104	1	0	0	0	0	1	0	0	0	472	1203	42	2	221	2	AKR1C4	10	5242274	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3836475	5242274	130292473	3734	70348											
C10orf18	54906	broad.mit.edu	37	chr10	5784301	5784301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actctctgttggagactaacGaaatttccagggctcatgct	9	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:5784301G>A	uc001iij.2	+	14	3194	c.2569G>A	c.(2569-2571)GAA>AAA	p.E857K	C10orf18_uc001iik.2_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	857										ovary(1)|central_nervous_system(1)	2						GGAGACTAACGAAATTTCCAG	0.438													A	5784301	G	A	5784301	3	1	104	1	0	0	0	0	1	0	0	0	1596	1059	37	1	2611	1	C10orf18	10	5784301	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	542027	5784301	129750446	3735	70349											
C10orf18	54906	broad.mit.edu	37	chr10	5791054	5791054	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agctgggttccaggcatggaGacgagcctccctcccgggca	14	14	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:5791054G>A	uc001iij.2	+	15	6295	c.5670G>A	c.(5668-5670)GAG>GAA	p.E1890E	C10orf18_uc001iik.2_Silent_p.E734E	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	1890										ovary(1)|central_nervous_system(1)	2						CAGGCATGGAGACGAGCCTCC	0.547													A	5791054	G	A	5791054	2	1	104	1	0	0	0	0	0	0	0	1	1596	933	33	4		4	C10orf18	10	5791054	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	6753	5791054	129743693	3736	70350											
ANKRD16	54522	broad.mit.edu	37	chr10	5922312	5922312	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtcagctcccaaggataagaGagtctgaattgtacttgtat	10	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:5922312G>T	uc010qat.1	-	6	1420	c.877C>A	c.(877-879)CTC>ATC	p.L293I	ANKRD16_uc009xie.2_Intron|ANKRD16_uc009xif.2_Missense_Mutation_p.L293I|ANKRD16_uc001iiq.2_Intron	NM_019046	NP_061919	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16 isoform a	293	ANK 8.										0						AAGGATAAGAGAGTCTGAATT	0.284													T	5922312	G	T	5922312	3	4	104	1	0	0	0	0	1	0	0	0	645	942	33	5	216	5	ANKRD16	10	5922312	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	131258	5922312	129612435	3737	70351											
SFMBT2	57713	broad.mit.edu	37	chr10	7326097	7326097	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtaatgaggtctatagggcCtttccctcgcagaggctgtt	12	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:7326097C>A	uc009xio.1	-	6	632	c.541G>T	c.(541-543)GGC>TGC	p.G181C	SFMBT2_uc001ijn.1_Missense_Mutation_p.G181C|SFMBT2_uc010qay.1_Missense_Mutation_p.G181C	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	181	MBT 2.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						TCTATAGGGCCTTTCCCTCGC	0.373													A	7326097	C	A	7326097	3	1	104	1	0	0	0	0	1	0	0	0	14158	681	24	5	2207	5	SFMBT2	10	7326097	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1403785	7326097	128208650	3738	70352											
ITIH5	80760	broad.mit.edu	37	chr10	7682734	7682734	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacccattttcttctgtggtTttattccttttctcttttac	3	10	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:7682734T>G	uc001ijq.2	-	4	463	c.384A>C	c.(382-384)AAA>AAC	p.K128N	ITIH5_uc001ijr.1_Missense_Mutation_p.K128N	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	128	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						CTTCTGTGGTTTTATTCCTTT	0.378													G	7682734	T	G	7682734	3	3	104	1	0	0	0	0	1	0	0	0	7907	1838	64	5	2625	5	ITIH5	10	7682734	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	356637	7682734	127852013	3739	70353											
ITIH2	3698	broad.mit.edu	37	chr10	7769791	7769791	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgatggagatccaacagtgGgcaagtgtcacttcaacctt	10	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:7769791G>T	uc001ijs.2	+	11	1441	c.1279G>T	c.(1279-1281)GGC>TGC	p.G427C		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	427	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3						TCCAACAGTGGGCAAGTGTCA	0.448													T	7769791	G	T	7769791	3	4	104	1	0	0	0	0	1	0	0	0	7904	1246	43	5	1321	5	ITIH2	10	7769791	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	87057	7769791	127764956	3740	70354											
ITIH2	3698	broad.mit.edu	37	chr10	7785224	7785224	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttctgacccagaatcaggTaaaataaaaataaattatat	5	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:7785224T>C	uc001ijs.2	+	17	2371	c.2209_splice	c.e17+2	p.G737_splice		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide						hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3						CAGAATCAGGtaaaataaaaa	0.333													C	7785224	T	C	7785224	5	2	104	1	0	0	0	0	0	0	1	0	7904	1652	57	3	2277	3	ITIH2	10	7785224	Splice_Site	SNP	T	TCGA-BR-8680-01A-11D-2394-08	15433	7785224	127749523	3741	70355											
KIN	22944	broad.mit.edu	37	chr10	7816807	7816807	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agctcaccttgacttggaagAtgttgctccggatgagctac	11	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:7816807A>T	uc001ijt.2	-	7	703	c.655T>A	c.(655-657)TCT>ACT	p.S219T	KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Missense_Mutation_p.S219T|KIN_uc010qba.1_Missense_Mutation_p.S113T	NM_012311	NP_036443	O60870	KIN17_HUMAN	HsKin17 protein	219					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						GACTTGGAAGATGTTGCTCCG	0.308													T	7816807	A	T	7816807	3	4	104	1	0	0	0	0	1	0	0	0	8315	333	12	5	554	5	KIN	10	7816807	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	31583	7816807	127717940	3742	70356											
ATP5C1	509	broad.mit.edu	37	chr10	7838094	7838094	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttatcctcaggattcaagttCgaaatatggcaactttgaaa	7	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:7838094C>T	uc001iju.2	+	2	145	c.67C>T	c.(67-69)CGA>TGA	p.R23*	ATP5C1_uc010qbb.1_Nonsense_Mutation_p.R23*|ATP5C1_uc009xiq.1_Nonsense_Mutation_p.R23*|ATP5C1_uc010qbc.1_Intron|ATP5C1_uc001ijv.2_Nonsense_Mutation_p.R23*	NM_001001973	NP_001001973	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1	23					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0						GATTCAAGTTCGAAATATGGC	0.224													T	7838094	C	T	7838094	4	4	104	1	0	0	0	0	0	1	0	0	1149	876	31	1	73	1	ATP5C1	10	7838094	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	21287	7838094	127696653	3743	70357											
ATP5C1	509	broad.mit.edu	37	chr10	7844253	7844253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagcatgagtatctatgacGatattgatgctgacgtgctg	11	7	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:7844253G>A	uc001iju.2	+	7	736	c.658G>A	c.(658-660)GAT>AAT	p.D220N	ATP5C1_uc009xiq.1_Missense_Mutation_p.D220N|ATP5C1_uc010qbc.1_Missense_Mutation_p.D171N|ATP5C1_uc001ijv.2_Missense_Mutation_p.D220N	NM_001001973	NP_001001973	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1	220					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0						TATCTATGACGATATTGATGC	0.383													A	7844253	G	A	7844253	3	1	104	1	0	0	0	0	1	0	0	0	1149	1058	37	1	684	1	ATP5C1	10	7844253	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	6159	7844253	127690494	3744	70358											
ATP5C1	509	broad.mit.edu	37	chr10	7844768	7844768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcaaccgtacccgccaaGctgtcatcacaaaagagttg	7	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:7844768G>A	uc001iju.2	+	8	919	c.841G>A	c.(841-843)GCT>ACT	p.A281T	ATP5C1_uc009xiq.1_Missense_Mutation_p.A281T|ATP5C1_uc010qbc.1_Missense_Mutation_p.A232T|ATP5C1_uc001ijv.2_Missense_Mutation_p.A281T	NM_001001973	NP_001001973	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1	281					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0						TACCCGCCAAGCTGTCATCAC	0.363													A	7844768	G	A	7844768	3	1	104	1	0	0	0	0	1	0	0	0	1149	971	34	2	871	2	ATP5C1	10	7844768	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	515	7844768	127689979	3745	70359											
TAF3	83860	broad.mit.edu	37	chr10	7866365	7866365	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatgaactagaagactataTtcacaacattgagcctgtca	6	9	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:7866365T>C	uc010qbd.1	+	2	251	c.251T>C	c.(250-252)ATT>ACT	p.I84T		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	84					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1						GAAGACTATATTCACAACATT	0.423													C	7866365	T	C	7866365	3	2	104	1	0	0	0	0	1	0	0	0	15522	1493	52	3	257	3	TAF3	10	7866365	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	21597	7866365	127668382	3746	70360											
GATA3	2625	broad.mit.edu	37	chr10	8115837	8115837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagctcgtttaacccggccGccctctccagacacatgtcc	7	18	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:8115837G>A	uc001ika.2	+	6	1740	c.1183G>A	c.(1183-1185)GCC>ACC	p.A395T	GATA3_uc001ijz.2_Missense_Mutation_p.A396T	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	395					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.A395fs*54(1)		breast(17)|ovary(3)|central_nervous_system(2)	22						TAACCCGGCCGCCCTCTCCAG	0.562			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						A	8115837	G	A	8115837	3	1	104	1	0	0	0	0	1	0	0	0	6255	1087	38	1	1204	1	GATA3	10	8115837	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	249472	8115837	127418910	3747	70361											
USP6NL	9712	broad.mit.edu	37	chr10	11504533	11504533	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatatggatatccagatggActggcatcttctgcggccgg	13	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:11504533A>G	uc001ikt.3	-	15	2715	c.2394T>C	c.(2392-2394)AGT>AGC	p.S798S	USP6NL_uc001iks.1_Silent_p.S815S	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	798						intracellular	Rab GTPase activator activity				0						ATCCAGATGGACTGGCATCTT	0.537													G	11504533	A	G	11504533	2	3	104	1	0	0	0	0	0	0	0	1	17084	272	10	3		3	USP6NL	10	11504533	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	3388696	11504533	124030214	3748	70362											
CDC123	8872	broad.mit.edu	37	chr10	12280462	12280462	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctcctttacagttgtgtTcgatatatacagagacagta	7	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:12280462T>G	uc001ill.2	+	10	979	c.695T>G	c.(694-696)TTC>TGC	p.F232C	CDC123_uc001ilm.2_Missense_Mutation_p.F244C	NM_006023	NP_006014	O75794	CD123_HUMAN	cell division cycle 123	232					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)	1						ACAGTTGTGTTCGATATATAC	0.303													G	12280462	T	G	12280462	3	3	104	1	0	0	0	0	1	0	0	0	3055	1783	62	5	733	5	CDC123	10	12280462	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	775929	12280462	123254285	3749	70363											
CCDC3	83643	broad.mit.edu	37	chr10	12940464	12940464	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccccgggcattgatgtgCggcagcgcgcccgccgccag	16	17	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:12940464C>T	uc001ilq.1	-	3	899	c.765G>A	c.(763-765)CCG>CCA	p.P255P	CCDC3_uc009xjb.1_RNA|CCDC3_uc001ilr.2_RNA|CCDC3_uc009xjc.1_RNA	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3 precursor	255						endoplasmic reticulum|extracellular region				ovary(1)	1		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			CATTGATGTGCGGCAGCGCGC	0.672													T	12940464	C	T	12940464	2	4	104	1	0	0	0	0	0	0	0	1	2804	755	27	1		1	CCDC3	10	12940464	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	660002	12940464	122594283	3750	70364											
PHYH	5264	broad.mit.edu	37	chr10	13336491	13336491	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaatcctggaccttcgtgatCatcttctcacttggagcata	7	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:13336491C>A	uc001imf.2	-	4	439	c.351G>T	c.(349-351)ATG>ATT	p.M117I	PHYH_uc001ime.2_Missense_Mutation_p.M17I|PHYH_uc001img.2_Missense_Mutation_p.M98I	NM_006214	NP_006205	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase isoform a precursor	117					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding				0		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	CCTTCGTGATCATCTTCTCAC	0.448													A	13336491	C	A	13336491	3	1	104	1	0	0	0	0	1	0	0	0	11864	826	29	5	689	5	PHYH	10	13336491	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	396027	13336491	122198256	3751	70365											
BEND7	222389	broad.mit.edu	37	chr10	13481494	13481494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgcagggcccaccacaaGcacctgtggaatgaatgaat	11	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:13481494G>A	uc001imm.2	-	9	1382	c.1085C>T	c.(1084-1086)GCT>GTT	p.A362V	BEND7_uc001iml.2_RNA	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	BEN domain containing 7 isoform 1	413							protein binding			ovary(1)|breast(1)	2						CCCACCACAAGCACCTGTGga	0.458													A	13481494	G	A	13481494	3	1	104	1	0	0	0	0	1	0	0	0	1403	971	34	2	325	2	BEND7	10	13481494	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	145003	13481494	122053253	3752	70366											
FRMD4A	55691	broad.mit.edu	37	chr10	13735997	13735997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtccccgtctcggtcaggtCgatggcgatctcactcaggc	12	15	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:13735997C>T	uc001ims.2	-	15	1370	c.1018G>A	c.(1018-1020)GAC>AAC	p.D340N	FRMD4A_uc009xjf.1_Missense_Mutation_p.D340N|FRMD4A_uc001imt.1_Missense_Mutation_p.D373N|FRMD4A_uc001imu.1_Missense_Mutation_p.D356N	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	340						cytoplasm|cytoskeleton	binding			ovary(1)|skin(1)|pancreas(1)	3						TCGGTCAGGTCGATGGCGATC	0.577													T	13735997	C	T	13735997	3	4	104	1	0	0	0	0	1	0	0	0	6051	884	31	1	2141	1	FRMD4A	10	13735997	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	254503	13735997	121798750	3753	70367											
SUV39H2	79723	broad.mit.edu	37	chr10	14938972	14938972	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgacaagcataattatttatCtcaggtaaagaaaggcaaag	8	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:14938972C>A	uc001inh.2	+	2	181	c.125C>A	c.(124-126)TCT>TAT	p.S42Y	SUV39H2_uc001ing.2_Missense_Mutation_p.S102Y|SUV39H2_uc001ini.2_Missense_Mutation_p.S42Y|SUV39H2_uc001inj.2_Missense_Mutation_p.S42Y	NM_024670	NP_078946	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2	102	Chromo.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|ovary(1)	3						AATTATTTATCTCAGGTAAAG	0.368													A	14938972	C	A	14938972	3	1	104	1	0	0	0	0	1	0	0	0	15410	913	32	5	127	5	SUV39H2	10	14938972	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1202975	14938972	120595775	3754	70368											
DCLRE1C	64421	broad.mit.edu	37	chr10	14951273	14951273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagtttccgggtatggaaCtttgtgccttaaaggtattg	11	5	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:14951273C>T	uc001inn.2	-	14	1298	c.1213G>A	c.(1213-1215)GTT>ATT	p.V405I	DCLRE1C_uc010qbx.1_Intron|DCLRE1C_uc001ink.2_Missense_Mutation_p.V58I|DCLRE1C_uc001inl.2_Missense_Mutation_p.V285I|DCLRE1C_uc009xji.2_Missense_Mutation_p.V290I|DCLRE1C_uc001inm.2_Missense_Mutation_p.V285I|DCLRE1C_uc001ino.2_Missense_Mutation_p.V290I|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Missense_Mutation_p.V285I|DCLRE1C_uc001inq.2_Missense_Mutation_p.V285I|DCLRE1C_uc001inr.2_Missense_Mutation_p.V290I	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	artemis protein isoform a	405					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)	1						GGGTATGGAACTTTGTGCCTT	0.443								Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ					T	14951273	C	T	14951273	3	4	104	1	0	0	0	0	1	0	0	0	4296	565	20	4	869	4	DCLRE1C	10	14951273	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	12301	14951273	120583474	3755	70369											
ACBD7	414149	broad.mit.edu	37	chr10	15060107	15060107	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccttgcaccaatctgaagTcccctgtgtacaagatagtt	7	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:15060107T>C	uc010qby.1	-	5	334	c.25A>G	c.(25-27)ACT>GCT	p.T9A				Q8N6N7	ACBD7_HUMAN	SubName: Full=cDNA FLJ52263, highly similar to Artemis protein (EC 3.1.-.-);	Error:Variant_position_missing_in_Q8N6N7_after_alignment							fatty-acyl-CoA binding				0						CAATCTGAAGTCCCCTGTGTA	0.388													C	15060107	T	C	15060107	3	2	104	1	0	0	0	0	1	0	0	0	127	1682	58	3		3	ACBD7	10	15060107	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	108834	15060107	120474640	3756	70370											
NMT2	9397	broad.mit.edu	37	chr10	15161473	15161473	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctcgaactgatttgatatCttttggttccattggtctca	7	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:15161473C>A	uc001inz.1	-	9	1123	c.1039G>T	c.(1039-1041)GAT>TAT	p.D347Y	NMT2_uc001ioa.1_Missense_Mutation_p.D334Y|NMT2_uc009xjo.1_Missense_Mutation_p.D347Y|NMT2_uc010qbz.1_Missense_Mutation_p.D159Y	NM_004808	NP_004799	O60551	NMT2_HUMAN	N-myristoyltransferase 2	347					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			ovary(1)	1						GATTTGATATCTTTTGGTTCC	0.433													A	15161473	C	A	15161473	3	1	104	1	0	0	0	0	1	0	0	0	10504	913	32	5	473	5	NMT2	10	15161473	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	101366	15161473	120373274	3757	70371											
FAM171A1	221061	broad.mit.edu	37	chr10	15255460	15255460	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacctgccatccaaggagacGaaccacgcccgggggtgcgg	15	14	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:15255460G>A	uc001iob.2	-	8	2134	c.2127C>T	c.(2125-2127)TTC>TTT	p.F709F		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	709	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						CCAAGGAGACGAACCACGCCC	0.557													A	15255460	G	A	15255460	2	1	104	1	0	0	0	0	0	0	0	1	5490	1049	37	1		1	FAM171A1	10	15255460	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	93987	15255460	120279287	3758	70372											
FAM171A1	221061	broad.mit.edu	37	chr10	15258059	15258059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccattcctcctaaaatggCcaaaagaaacaccgtgtgat	7	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:15258059C>T	uc001iob.2	-	7	929	c.922G>A	c.(922-924)GCC>ACC	p.A308T		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	308	Helical; (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						CCTAAAATGGCCAAAAGAAAC	0.363													T	15258059	C	T	15258059	3	4	104	1	0	0	0	0	1	0	0	0	5490	739	26	2	1758	2	FAM171A1	10	15258059	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2599	15258059	120276688	3759	70373											
ITGA8	8516	broad.mit.edu	37	chr10	15573138	15573138	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagggatgcaagagcataggGatcattttttctctgaaagt	11	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:15573138G>T	uc001ioc.1	-	28	2893	c.2893C>A	c.(2893-2895)CCC>ACC	p.P965T	ITGA8_uc010qcb.1_Missense_Mutation_p.P950T	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	965	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						AGAGCATAGGGATCATTTTTT	0.328													T	15573138	G	T	15573138	3	4	104	1	0	0	0	0	1	0	0	0	7882	1174	41	5	310	5	ITGA8	10	15573138	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	315079	15573138	119961609	3760	70374											
ITGA8	8516	broad.mit.edu	37	chr10	15600166	15600166	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagagtttcgcaaaaaggcGctgagctcaggggtgtcctc	14	9	1	2	rs142740699		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:15600166G>A	uc001ioc.1	-	26	2673	c.2673C>T	c.(2671-2673)AGC>AGT	p.S891S	ITGA8_uc010qcb.1_Silent_p.S876S	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	891	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						GCAAAAAGGCGCTGAGCTCAG	0.463													A	15600166	G	A	15600166	2	1	104	1	0	0	0	0	0	0	0	1	7882	1078	38	1		1	ITGA8	10	15600166	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	27028	15600166	119934581	3761	70375											
ITGA8	8516	broad.mit.edu	37	chr10	15628612	15628612	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccacctgcgctacagcagtGatgttgatttgcaggctcac	10	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:15628612G>A	uc001ioc.1	-	23	2343	c.2343C>T	c.(2341-2343)ATC>ATT	p.I781I	ITGA8_uc010qcb.1_Silent_p.I766I	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	781	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						CTACAGCAGTGATGTTGATTT	0.368													A	15628612	G	A	15628612	2	1	104	1	0	0	0	0	0	0	0	1	7882	1280	45	4		4	ITGA8	10	15628612	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	28446	15628612	119906135	3762	70376											
FAM188A	80013	broad.mit.edu	37	chr10	15821133	15821133	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caactgcagtcccttctacgTacatgacctgttgaacaaaa	6	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:15821133T>C	uc001iod.1	-	15	1417	c.1196A>G	c.(1195-1197)TAC>TGC	p.Y399C	FAM188A_uc001ioe.1_Missense_Mutation_p.Y226C	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	chromosome 10 open reading frame 97	399					apoptosis	nucleus	calcium ion binding			ovary(1)	1						CCCTTCTACGTACATGACCTG	0.403													C	15821133	T	C	15821133	3	2	104	1	0	0	0	0	1	0	0	0	5514	1638	57	3	145	3	FAM188A	10	15821133	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	192521	15821133	119713614	3763	70377											
PTER	9317	broad.mit.edu	37	chr10	16526545	16526545	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccaaagaacctatcgtgatGaaaaatttatattggattca	6	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:16526545G>T	uc001iog.1	+	3	369	c.162G>T	c.(160-162)ATG>ATT	p.M54I	PTER_uc001ioh.1_Missense_Mutation_p.M54I|PTER_uc001ioi.1_Missense_Mutation_p.M54I|PTER_uc009xjp.1_Missense_Mutation_p.M54I	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	phosphotriesterase related	54					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			ovary(2)	2						CTATCGTGATGAAAAATTTAT	0.423													T	16526545	G	T	16526545	3	4	104	1	0	0	0	0	1	0	0	0	12739	1290	45	5	164	5	PTER	10	16526545	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	705412	16526545	119008202	3764	70378											
PTER	9317	broad.mit.edu	37	chr10	16553255	16553255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatggctaactttcaaataGgatggttgcttatgaattca	8	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:16553255G>A	uc001iog.1	+	6	1257	c.1050G>A	c.(1048-1050)TAG>TAA	p.*350*	PTER_uc001ioh.1_Silent_p.*350*|PTER_uc001ioi.1_Silent_p.*350*|PTER_uc009xjp.1_Silent_p.*303*	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	phosphotriesterase related	350					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			ovary(2)	2						CTTTCAAATAGGATGGTTGCT	0.373													A	16553255	G	A	16553255	2	1	104	1	0	0	0	0	0	0	0	1	12739	995	35	4		4	PTER	10	16553255	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	26710	16553255	118981492	3765	70379											
CUBN	8029	broad.mit.edu	37	chr10	16911750	16911750	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggtgggcgcttggaaccGcagaatttgccaagaagggg	16	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:16911750G>A	uc001ioo.2	-	59	9391	c.9339C>T	c.(9337-9339)TGC>TGT	p.C3113C	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Silent_p.C469C	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3113	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCTTGGAACCGCAGAATTTGC	0.478													A	16911750	G	A	16911750	2	1	104	1	0	0	0	0	0	0	0	1	4051	1079	38	1		1	CUBN	10	16911750	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	358495	16911750	118622997	3766	70380											
CUBN	8029	broad.mit.edu	37	chr10	17024530	17024530	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaaagtcagtgaagttcaAgagaacacgatgatttctgt	9	6	4	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:17024530A>G	uc001ioo.2	-	31	4700	c.4648T>C	c.(4648-4650)TTG>CTG	p.L1550L		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1550	CUB 10.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTGAAGTTCAAGAGAACACGA	0.418													G	17024530	A	G	17024530	2	3	104	1	0	0	0	0	0	0	0	1	4051	69	3	3		3	CUBN	10	17024530	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	112780	17024530	118510217	3767	70381											
CUBN	8029	broad.mit.edu	37	chr10	17145179	17145179	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taacatcatgaacataaccaAcatccgggctcctgtagctg	7	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:17145179A>G	uc001ioo.2	-	13	1527	c.1475T>C	c.(1474-1476)GTT>GCT	p.V492A		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	492	CUB 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AACATAACCAACATCCGGGCT	0.388													G	17145179	A	G	17145179	3	3	104	1	0	0	0	0	1	0	0	0	4051	43	2	3	9616	3	CUBN	10	17145179	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	120649	17145179	118389568	3768	70382											
CUBN	8029	broad.mit.edu	37	chr10	17147483	17147483	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccatttagacaggggtgActtaggcaaatattactgag	11	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:17147483A>G	uc001ioo.2	-	11	1255	c.1203T>C	c.(1201-1203)AGT>AGC	p.S401S		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	401	EGF-like 6.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GACAGGGGTGACTTAGGCAAA	0.438													G	17147483	A	G	17147483	2	3	104	1	0	0	0	0	0	0	0	1	4051	272	10	3		3	CUBN	10	17147483	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2304	17147483	118387264	3769	70383											
TRDMT1	1787	broad.mit.edu	37	chr10	17201203	17201203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctttgcaataagaaaatatCgtagccttgaatttggaatg	9	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:17201203C>T	uc001iop.2	-	7	533	c.485G>A	c.(484-486)CGA>CAA	p.R162Q	TRDMT1_uc001ioq.2_Missense_Mutation_p.R138Q|TRDMT1_uc001ior.2_Missense_Mutation_p.R116Q|TRDMT1_uc001ios.2_Missense_Mutation_p.R91Q|TRDMT1_uc009xjt.2_Missense_Mutation_p.R81Q|TRDMT1_uc010qcc.1_Missense_Mutation_p.R91Q|TRDMT1_uc010qcd.1_Intron|TRDMT1_uc009xjs.1_Missense_Mutation_p.R79Q|TRDMT1_uc009xju.1_RNA	NM_004412	NP_004403	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1 isoform	162					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			ovary(1)	1						AAGAAAATATCGTAGCCTTGA	0.353													T	17201203	C	T	17201203	3	4	104	1	0	0	0	0	1	0	0	0	16464	884	31	1	710	1	TRDMT1	10	17201203	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	53720	17201203	118333544	3770	70384											
VIM	7431	broad.mit.edu	37	chr10	17277206	17277206	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagatgcgtgaaatggaagaGaactttgccgttgaagctgc	13	7	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:17277206G>T	uc001iou.2	+	7	1460	c.1047G>T	c.(1045-1047)GAG>GAT	p.E349D	VIM_uc001iov.1_Missense_Mutation_p.E349D|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.E349D|VIM_uc001ioy.1_Intron|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.E307D|VIM_uc001ipc.1_Missense_Mutation_p.E349D	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	349	Rod.|Coil 2.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AAATGGAAGAGAACTTTGCCG	0.483													T	17277206	G	T	17277206	3	4	104	1	0	0	0	0	1	0	0	0	17163	933	33	5	1069	5	VIM	10	17277206	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	76003	17277206	118257541	3771	70385											
ST8SIA6	338596	broad.mit.edu	37	chr10	17432535	17432535	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagagtagaacttaccctttCgttttgttagagaaagactc	8	7	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:17432535C>T	uc001ipd.2	-	3	285	c.285G>A	c.(283-285)ACG>ACA	p.T95T	ST8SIA6_uc010qce.1_RNA|uc001ipe.2_Intron|uc001ipf.1_Intron	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide	95	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(1)	1						CTTACCCTTTCGTTTTGTTAG	0.363													T	17432535	C	T	17432535	2	4	104	1	0	0	0	0	0	0	0	1	15235	871	31	1		1	ST8SIA6	10	17432535	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	155329	17432535	118102212	3772	70386											
MRC1	4360	broad.mit.edu	37	chr10	18138590	18138590	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attcacagagatgagaaaaaAatccagagggatgctctgac	10	7	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:18138590A>C	uc001ipm.2	+	7	1249	c.1146A>C	c.(1144-1146)AAA>AAC	p.K382N		NM_002438	NP_002429	P22897	MRC1_HUMAN	mannose receptor C type 1 precursor	382	Extracellular (Potential).|C-type lectin 2.				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity				0						ATGAGAAAAAAATCCAGAGGG	0.483													C	18138590	A	C	18138590	3	2	104	1	0	0	0	0	1	0	0	0	9756	11	1	5	5663	5	MRC1	10	18138590	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	706055	18138590	117396157	3773	70387											
SLC39A12	221074	broad.mit.edu	37	chr10	18280228	18280228	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttgtatcaccaaatgAcaaggtatatttttaagttt	5	6	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:18280228A>G	uc001ipo.2	+	8	1691	c.1418A>G	c.(1417-1419)GAC>GGC	p.D473G	SLC39A12_uc001ipn.2_Missense_Mutation_p.D473G|SLC39A12_uc001ipp.2_Missense_Mutation_p.D473G|SLC39A12_uc010qck.1_Missense_Mutation_p.D339G	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	473	Extracellular (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						TCACCAAATGACAAGGTATAT	0.308													G	18280228	A	G	18280228	3	3	104	1	0	0	0	0	1	0	0	0	14615	275	10	3	1444	3	SLC39A12	10	18280228	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	141638	18280228	117254519	3774	70388											
NSUN6	221078	broad.mit.edu	37	chr10	18875000	18875000	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctactttgttgaagattTtatccagtgctataacttct	5	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:18875000T>G	uc010qcp.1	-	8	1218	c.800A>C	c.(799-801)AAA>ACA	p.K267T		NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	NOL1/NOP2/Sun domain family, member 6	267							methyltransferase activity|RNA binding			ovary(2)	2						GTTGAAGATTTTATCCAGTGC	0.313													G	18875000	T	G	18875000	3	3	104	1	0	0	0	0	1	0	0	0	10682	1841	64	5	625	5	NSUN6	10	18875000	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	594772	18875000	116659747	3775	70389											
PLXDC2	84898	broad.mit.edu	37	chr10	20465940	20465940	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttttctagatgttcgaagaaGaacaatttatgaataccacc	6	7	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:20465940G>T	uc001iqg.1	+	8	1533	c.896G>T	c.(895-897)AGA>ATA	p.R299I	PLXDC2_uc001iqh.1_Missense_Mutation_p.R250I|PLXDC2_uc009xkc.1_RNA	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	299	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						GTTCGAAGAAGAACAATTTAT	0.318													T	20465940	G	T	20465940	3	4	104	1	0	0	0	0	1	0	0	0	12118	942	33	5	926	5	PLXDC2	10	20465940	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1590940	20465940	115068807	3776	70390											
NEBL	10529	broad.mit.edu	37	chr10	21098812	21098812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggagccaggatctgtgCgccaaactttgaggtctttt	12	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:21098812C>T	uc001iqi.2	-	25	2931	c.2534G>A	c.(2533-2535)CGC>CAC	p.R845H	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	845	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						AGGATCTGTGCGCCAAACTTT	0.383													T	21098812	C	T	21098812	3	4	104	1	0	0	0	0	1	0	0	0	10303	768	27	1	526	1	NEBL	10	21098812	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	632872	21098812	114435935	3777	70391											
NEBL	10529	broad.mit.edu	37	chr10	21177096	21177096	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctggcatccgcttataaagaGaattagaaaggtcagcttta	9	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:21177096G>T	uc001iqi.2	-	4	696	c.299C>A	c.(298-300)TCT>TAT	p.S100Y	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	100	Nebulin 3.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						CTTATAAAGAGAATTAGAAAG	0.353													T	21177096	G	T	21177096	3	4	104	1	0	0	0	0	1	0	0	0	10303	942	33	5	2845	5	NEBL	10	21177096	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	78284	21177096	114357651	3778	70392											
MLLT10	8028	broad.mit.edu	37	chr10	21906051	21906051	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttttttagaaaaagagcaAacggggatctaataggtcat	9	5	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:21906051A>C	uc001iqs.2	+	8	962	c.614A>C	c.(613-615)AAA>ACA	p.K205T	MLLT10_uc001iqt.2_Missense_Mutation_p.K205T|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.K205T|MLLT10_uc001ira.2_5'UTR|MLLT10_uc001iqz.2_5'UTR	NM_004641	NP_004632	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	205	Self-association.|Interaction with FSTL3.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(1)|skin(1)	2						AAAAAGAGCAAACGGGGATCT	0.254			T	MLL|PICALM|CDK6	AL								C	21906051	A	C	21906051	3	2	104	1	0	0	0	0	1	0	0	0	9626	14	1	5	640	5	MLLT10	10	21906051	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	728955	21906051	113628696	3779	70393											
DNAJC1	64215	broad.mit.edu	37	chr10	22171227	22171227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttacctgttttttctgtgttCggttcctgttttccaaccaa	6	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:22171227C>T	uc001irc.2	-	8	1249	c.962G>A	c.(961-963)CGA>CAA	p.R321Q	DNAJC1_uc001ird.2_Missense_Mutation_p.R207Q	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	321	Cytoplasmic (By similarity).				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			lung(1)	1		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TTTCTGTGTTCGGTTCCTGTT	0.318													T	22171227	C	T	22171227	3	4	104	1	0	0	0	0	1	0	0	0	4628	884	31	1	722	1	DNAJC1	10	22171227	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	265176	22171227	113363520	3780	70394											
SPAG6	9576	broad.mit.edu	37	chr10	22680806	22680806	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tactttgccagttctgctttCtttgtacatgtcaacagaaa	6	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:22680806C>A	uc001iri.2	+	8	1296	c.1154C>A	c.(1153-1155)TCT>TAT	p.S385Y	SPAG6_uc001irj.2_Missense_Mutation_p.S385Y|SPAG6_uc010qct.1_Missense_Mutation_p.S355Y|SPAG6_uc009xkh.2_Missense_Mutation_p.S363Y	NM_012443	NP_036575	O75602	SPAG6_HUMAN	sperm associated antigen 6 isoform 1	385	ARM 8.				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1						GTTCTGCTTTCTTTGTACATG	0.398													A	22680806	C	A	22680806	3	1	104	1	0	0	0	0	1	0	0	0	14982	913	32	5	1184	5	SPAG6	10	22680806	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	509579	22680806	112853941	3781	70395											
C10orf67	256815	broad.mit.edu	37	chr10	23611421	23611421	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcaaacttcaactgaaGcaattgtttgaggaacccaa	7	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:23611421G>T	uc010qcx.1	-	3	442	c.376C>A	c.(376-378)CTT>ATT	p.L126I		NM_153714	NP_714925	Q8IYJ2	CJ067_HUMAN	hypothetical protein LOC256815	126											0						TTCAACTGAAGCAATTGTTTG	0.299													T	23611421	G	T	23611421	3	4	104	1	0	0	0	0	1	0	0	0	1612	971	34	5	193	5	C10orf67	10	23611421	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	930615	23611421	111923326	3782	70396											
KIAA1217	56243	broad.mit.edu	37	chr10	24832504	24832504	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgacaatgaggatccagtCgtgtgcctggacaagaaacc	11	10	0	3	rs113019857	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:24832504C>T	uc001iru.3	+	19	4708	c.4305C>T	c.(4303-4305)GTC>GTT	p.V1435V	KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Silent_p.V1118V|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Silent_p.V271V	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1435					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						AGGATCCAGTCGTGTGCCTGG	0.453													T	24832504	C	T	24832504	2	4	104	1	0	0	0	0	0	0	0	1	8216	871	31	1		1	KIAA1217	10	24832504	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1221083	24832504	110702243	3783	70397											
ARHGAP21	57584	broad.mit.edu	37	chr10	24874037	24874037	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacactttagttaacgaaggTgcttctttctcattcttggc	7	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:24874037T>C	uc001isb.2	-	26	5668	c.5181A>G	c.(5179-5181)GCA>GCG	p.A1727A	ARHGAP21_uc010qdb.1_RNA	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1726	Interaction with CTNNA1.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						TTAACGAAGGTGCTTCTTTCT	0.408													C	24874037	T	C	24874037	2	2	104	1	0	0	0	0	0	0	0	1	871	1683	59	3		3	ARHGAP21	10	24874037	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	41533	24874037	110660710	3784	70398											
THNSL1	79896	broad.mit.edu	37	chr10	25312156	25312156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaagtgaaaagagaatgCtccactttaaccgatgtcat	8	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:25312156C>T	uc001isi.3	+	3	333	c.4C>T	c.(4-6)CTC>TTC	p.L2F	ENKUR_uc001ish.1_Intron	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1	2					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			pancreas(1)	1					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	AAAGAGAATGCTCCACTTTAA	0.328													T	25312156	C	T	25312156	3	4	104	1	0	0	0	0	1	0	0	0	15859	797	28	2	6	2	THNSL1	10	25312156	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	438119	25312156	110222591	3785	70399											
GPR158	57512	broad.mit.edu	37	chr10	25464659	25464659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaactgctccggccgctacGagttggcgggcctgccgggg	16	15	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:25464659G>A	uc001isj.2	+	1	370	c.310G>A	c.(310-312)GAG>AAG	p.E104K	LOC100128811_uc010qde.1_Missense_Mutation_p.S98L	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	104	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						CGGCCGCTACGAGTTGGCGGG	0.677													A	25464659	G	A	25464659	3	1	104	1	0	0	0	0	1	0	0	0	6663	1059	37	1	312	1	GPR158	10	25464659	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	152503	25464659	110070088	3786	70400											
GPR158	57512	broad.mit.edu	37	chr10	25509998	25509998	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggggtgtcatgaaagttgAcataaatcttcagaaagtgg	12	4	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:25509998A>G	uc001isj.2	+	2	980	c.920A>G	c.(919-921)GAC>GGC	p.D307G		NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	307	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						ATGAAAGTTGACATAAATCTT	0.333													G	25509998	A	G	25509998	3	3	104	1	0	0	0	0	1	0	0	0	6663	275	10	3	926	3	GPR158	10	25509998	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	45339	25509998	110024749	3787	70401											
GPR158	57512	broad.mit.edu	37	chr10	25861601	25861601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgaaggtgtttctttcacGaacggctcaacgaattccat	8	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:25861601G>A	uc001isj.2	+	7	1598	c.1538G>A	c.(1537-1539)CGA>CAA	p.R513Q		NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	513	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						TTTCTTTCACGAACGGCTCAA	0.383													A	25861601	G	A	25861601	3	1	104	1	0	0	0	0	1	0	0	0	6663	1058	37	1	1564	1	GPR158	10	25861601	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	351603	25861601	109673146	3788	70402											
MYO3A	53904	broad.mit.edu	37	chr10	26385323	26385323	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccagtggagaaaaaaatTttcatattttttactacatt	4	5	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:26385323T>G	uc001isn.2	+	16	1936	c.1576T>G	c.(1576-1578)TTT>GTT	p.F526V	MYO3A_uc009xko.1_Missense_Mutation_p.F526V|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.F526V	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	526	Myosin head-like.				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						AGAAAAAAATTTTCATATTTT	0.318													G	26385323	T	G	26385323	3	3	104	1	0	0	0	0	1	0	0	0	10076	1841	64	5	1630	5	MYO3A	10	26385323	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	523722	26385323	109149424	3789	70403											
MYO3A	53904	broad.mit.edu	37	chr10	26490219	26490219	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatccaagaagaaaaacgaaGaccaaggaaagacaggtaat	9	6	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:26490219G>T	uc001isn.2	+	33	4931	c.4571G>T	c.(4570-4572)AGA>ATA	p.R1524I	MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1524					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						GAAAAACGAAGACCAAGGAAA	0.249													T	26490219	G	T	26490219	3	4	104	1	0	0	0	0	1	0	0	0	10076	942	33	5	4693	5	MYO3A	10	26490219	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	104896	26490219	109044528	3790	70404											
ABI1	10006	broad.mit.edu	37	chr10	27066139	27066139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaaaataccaatctctcttCgtgccactttctccttatga	3	13	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:27066139C>T	uc001isx.2	-	3	484	c.317G>A	c.(316-318)CGA>CAA	p.R106Q	ABI1_uc001ite.2_Missense_Mutation_p.R106Q|ABI1_uc010qdh.1_Missense_Mutation_p.R106Q|ABI1_uc010qdi.1_Intron|ABI1_uc001isy.2_Missense_Mutation_p.R106Q|ABI1_uc001ita.2_Missense_Mutation_p.R106Q|ABI1_uc001isz.2_Missense_Mutation_p.R106Q|ABI1_uc001itb.2_Missense_Mutation_p.R123Q|ABI1_uc001itc.2_Missense_Mutation_p.R106Q|ABI1_uc010qdj.1_Missense_Mutation_p.R106Q|ABI1_uc001itd.2_Missense_Mutation_p.R106Q|ABI1_uc010qdk.1_Missense_Mutation_p.R106Q|ABI1_uc010qdg.1_5'UTR	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	abl-interactor 1 isoform a	106	t-SNARE coiled-coil homology.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)	1						AATCTCTCTTCGTGCCACTTT	0.323													T	27066139	C	T	27066139	3	4	104	1	0	0	0	0	1	0	0	0	88	884	31	1	1249	1	ABI1	10	27066139	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	575920	27066139	108468608	3791	70405											
ANKRD26	22852	broad.mit.edu	37	chr10	27323866	27323866	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttttgcacaatagcatgAaactggtcttggatattaat	8	5	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:27323866A>C	uc001ith.2	-	24	3682	c.3510T>G	c.(3508-3510)TTT>TTG	p.F1170L	ANKRD26_uc001itg.2_Missense_Mutation_p.F857L|ANKRD26_uc009xku.1_Missense_Mutation_p.F1171L	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1170	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						CAATAGCATGAAACTGGTCTT	0.363													C	27323866	A	C	27323866	3	2	104	1	0	0	0	0	1	0	0	0	654	243	9	5	1663	5	ANKRD26	10	27323866	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	257727	27323866	108210881	3792	70406											
ANKRD26	22852	broad.mit.edu	37	chr10	27335401	27335401	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagattctttcgaggtccgTttttctttttcagtgctctt	7	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:27335401T>C	uc001ith.2	-	18	2035	c.1863A>G	c.(1861-1863)AAA>AAG	p.K621K	ANKRD26_uc001itg.2_Silent_p.K308K|ANKRD26_uc009xku.1_Silent_p.K622K	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	621						centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						TCGAGGTCCGTTTTTCTTTTT	0.378													C	27335401	T	C	27335401	2	2	104	1	0	0	0	0	0	0	0	1	654	1722	60	3		3	ANKRD26	10	27335401	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	11535	27335401	108199346	3793	70407											
ANKRD26	22852	broad.mit.edu	37	chr10	27356125	27356125	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttcatcaacataagtcaAattgtcattatttgtttgct	4	8	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:27356125A>C	uc001ith.2	-	10	1340	c.1168T>G	c.(1168-1170)TTG>GTG	p.L390V	ANKRD26_uc001itg.2_Missense_Mutation_p.L109V|ANKRD26_uc009xku.1_Missense_Mutation_p.L390V	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	390						centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						ACATAAGTCAAATTGTCATTA	0.318													C	27356125	A	C	27356125	3	2	104	1	0	0	0	0	1	0	0	0	654	11	1	5	4064	5	ANKRD26	10	27356125	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	20724	27356125	108178622	3794	70408											
ANKRD26	22852	broad.mit.edu	37	chr10	27368089	27368089	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacacccggtttgccagaaaGcctttagaacaaaaatatag	7	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:27368089G>T	uc001ith.2	-	7	914	c.742C>A	c.(742-744)CTT>ATT	p.L248I	ANKRD26_uc001itg.2_5'UTR|ANKRD26_uc009xku.1_Missense_Mutation_p.L248I	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	248						centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						TTGCCAGAAAGCCTTTAGAAC	0.348													T	27368089	G	T	27368089	3	4	104	1	0	0	0	0	1	0	0	0	654	985	34	5	4502	5	ANKRD26	10	27368089	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	11964	27368089	108166658	3795	70409											
YME1L1	10730	broad.mit.edu	37	chr10	27411786	27411786	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttacccatccatttcagcaaGaagttgatttatggtctgcc	7	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:27411786G>T	uc001iti.2	-	12	1572	c.1390C>A	c.(1390-1392)CTT>ATT	p.L464I	YME1L1_uc001itj.2_Missense_Mutation_p.L407I|YME1L1_uc010qdl.1_Missense_Mutation_p.L374I|YME1L1_uc009xkv.2_Intron	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	464					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						ATTTCAGCAAGAAGTTGATTT	0.343													T	27411786	G	T	27411786	3	4	104	1	0	0	0	0	1	0	0	0	17484	942	33	5	967	5	YME1L1	10	27411786	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	43697	27411786	108122961	3796	70410											
YME1L1	10730	broad.mit.edu	37	chr10	27411858	27411858	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcccaccaacagaatctaAttcatcaataaatataacac	1	12	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:27411858A>C	uc001iti.2	-	12	1500	c.1318T>G	c.(1318-1320)TTA>GTA	p.L440V	YME1L1_uc001itj.2_Missense_Mutation_p.L383V|YME1L1_uc010qdl.1_Missense_Mutation_p.L350V|YME1L1_uc009xkv.2_Intron	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	440					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						ACAGAATCTAATTCATCAATA	0.353													C	27411858	A	C	27411858	3	2	104	1	0	0	0	0	1	0	0	0	17484	98	4	5	1039	5	YME1L1	10	27411858	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	72	27411858	108122889	3797	70411											
MASTL	84930	broad.mit.edu	37	chr10	27459259	27459259	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gactccagtccttgtaaaaaAattatacagaataaaaaaac	4	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:27459259A>C	uc001itm.2	+	8	2010	c.1371A>C	c.(1369-1371)AAA>AAC	p.K457N	MASTL_uc001itl.2_Missense_Mutation_p.K457N|MASTL_uc009xkw.1_Missense_Mutation_p.K457N|MASTL_uc009xkx.1_RNA	NM_032844	NP_116233	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine	457	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						CTTGTAAAAAAATTATACAGA	0.348													C	27459259	A	C	27459259	3	2	104	1	0	0	0	0	1	0	0	0	9328	11	1	5	1401	5	MASTL	10	27459259	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	47401	27459259	108075488	3798	70412											
PTCHD3	374308	broad.mit.edu	37	chr10	27687698	27687698	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactgcttatgatgtacaaaAcatatataaagactacaaaa	4	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:27687698A>G	uc001itu.2	-	4	1947	c.1829T>C	c.(1828-1830)GTT>GCT	p.V610A		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	610	Helical; (Potential).				spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						GATGTACAAAACATATATAAA	0.368													G	27687698	A	G	27687698	3	3	104	1	0	0	0	0	1	0	0	0	12734	43	2	3	478	3	PTCHD3	10	27687698	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	228439	27687698	107847049	3799	70413											
PTCHD3	374308	broad.mit.edu	37	chr10	27702138	27702138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttaatgttggtaaattgatCgagcaaatgggtgagccact	11	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:27702138C>T	uc001itu.2	-	1	1160	c.1042G>A	c.(1042-1044)GAT>AAT	p.D348N		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	348					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						GTAAATTGATCGAGCAAATGG	0.522													T	27702138	C	T	27702138	3	4	104	1	0	0	0	0	1	0	0	0	12734	884	31	1	1277	1	PTCHD3	10	27702138	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	14440	27702138	107832609	3800	70414											
PTCHD3	374308	broad.mit.edu	37	chr10	27702944	27702944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggtgcatcgtccagcatcGacggccgggggggtgcatcg	19	11	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:27702944G>A	uc001itu.2	-	1	354	c.236C>T	c.(235-237)TCG>TTG	p.S79L		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	79					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						GTCCAGCATCGACGGCCGGGG	0.716													A	27702944	G	A	27702944	3	1	104	1	0	0	0	0	1	0	0	0	12734	1059	37	1	2083	1	PTCHD3	10	27702944	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	806	27702944	107831803	3801	70415											
MKX	283078	broad.mit.edu	37	chr10	28023641	28023641	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccgctttgatgaccgaattCtcacttttaatcacaggatg	7	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:28023641C>A	uc001ity.3	-	5	807	c.582G>T	c.(580-582)GAG>GAT	p.E194D	MKX_uc001itx.3_Missense_Mutation_p.E194D	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	mohawk homeobox	194					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TGACCGAATTCTCACTTTTAA	0.488													A	28023641	C	A	28023641	3	1	104	1	0	0	0	0	1	0	0	0	9610	912	32	5	488	5	MKX	10	28023641	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	320697	28023641	107511106	3802	70416											
ARMC4	55130	broad.mit.edu	37	chr10	28196681	28196681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcagggaccacaacaaacGaactccatctaagcgatcaa	7	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:28196681G>A	uc009xky.2	-	17	2619	c.2521C>T	c.(2521-2523)CGT>TGT	p.R841C	ARMC4_uc010qds.1_Missense_Mutation_p.R366C|ARMC4_uc010qdt.1_Missense_Mutation_p.R533C|ARMC4_uc001itz.2_Missense_Mutation_p.R841C	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	841	ARM 6.						binding			ovary(4)|skin(2)	6						CACAACAAACGAACTCCATCT	0.423													A	28196681	G	A	28196681	3	1	104	1	0	0	0	0	1	0	0	0	953	1058	37	1	629	1	ARMC4	10	28196681	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	173040	28196681	107338066	3803	70417											
ARMC4	55130	broad.mit.edu	37	chr10	28274087	28274087	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atttaatgcaattgagttttCtttcattgtattataatcag	5	4	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:28274087C>A	uc009xky.2	-	4	534	c.436G>T	c.(436-438)GAA>TAA	p.E146*	ARMC4_uc010qdt.1_5'Flank|ARMC4_uc001itz.2_Nonsense_Mutation_p.E146*	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	146							binding			ovary(4)|skin(2)	6						ATTGAGTTTTCTTTCATTGTA	0.323													A	28274087	C	A	28274087	4	1	104	1	0	0	0	0	0	1	0	0	953	922	32	5	2766	5	ARMC4	10	28274087	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	77406	28274087	107260660	3804	70418											
WAC	51322	broad.mit.edu	37	chr10	28900756	28900756	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catctgatgcgtcatccccaAgatcatatgtttctccaaga	6	12	4	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:28900756A>C	uc001iuf.2	+	10	1427	c.1342A>C	c.(1342-1344)AGA>CGA	p.R448R	WAC_uc001iud.2_Silent_p.R403R|WAC_uc001iue.2_Silent_p.R138R|WAC_uc001iug.2_Silent_p.R345R|WAC_uc001iuh.2_Silent_p.R400R	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	448					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2						GTCATCCCCAAGATCATATGT	0.393													C	28900756	A	C	28900756	2	2	104	1	0	0	0	0	0	0	0	1	17244	64	3	5		5	WAC	10	28900756	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	626669	28900756	106633991	3805	70419											
WAC	51322	broad.mit.edu	37	chr10	28905110	28905110	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgttttctagtagccagaGaagtccatcacctggtccca	8	12	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:28905110G>T	uc001iuf.2	+	12	1650	c.1565G>T	c.(1564-1566)AGA>ATA	p.R522I	WAC_uc001iud.2_Missense_Mutation_p.R477I|WAC_uc001iue.2_Missense_Mutation_p.R212I|WAC_uc001iug.2_Missense_Mutation_p.R419I|WAC_uc001iuh.2_Missense_Mutation_p.R473I	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	522					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2						AGTAGCCAGAGAAGTCCATCA	0.363													T	28905110	G	T	28905110	3	4	104	1	0	0	0	0	1	0	0	0	17244	942	33	5	1611	5	WAC	10	28905110	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4354	28905110	106629637	3806	70420											
SVIL	6840	broad.mit.edu	37	chr10	29813568	29813568	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tagagtggaggaatcaggttCtccttgctcagcaagctctt	11	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:29813568C>A	uc001iut.1	-	14	3172	c.2419G>T	c.(2419-2421)GAA>TAA	p.E807*	SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Nonsense_Mutation_p.E381*	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	807					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				GAATCAGGTTCTCCTTGCTCA	0.458													A	29813568	C	A	29813568	4	1	104	1	0	0	0	0	0	1	0	0	15418	922	32	5	4325	5	SVIL	10	29813568	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	908458	29813568	105721179	3807	70421											
ZEB1	6935	broad.mit.edu	37	chr10	31809761	31809761	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagaaaatccagtcgctAcaaacagttgtaaaagtgaa	7	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:31809761A>G	uc001ivs.3	+	7	1561	c.1498A>G	c.(1498-1500)ACA>GCA	p.T500A	ZEB1_uc001ivr.3_Missense_Mutation_p.T282A|ZEB1_uc010qee.1_Missense_Mutation_p.T282A|ZEB1_uc010qef.1_Missense_Mutation_p.T282A|ZEB1_uc009xlj.1_Missense_Mutation_p.T426A|ZEB1_uc010qeg.1_Missense_Mutation_p.T359A|ZEB1_uc009xlk.1_Missense_Mutation_p.T282A|ZEB1_uc001ivt.3_Missense_Mutation_p.T282A|ZEB1_uc001ivu.3_Missense_Mutation_p.T501A|ZEB1_uc001ivv.3_Missense_Mutation_p.T480A|ZEB1_uc010qeh.1_Missense_Mutation_p.T433A|ZEB1_uc009xlo.1_Missense_Mutation_p.T483A|ZEB1_uc009xlp.2_Missense_Mutation_p.T484A	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	500					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				TCCAGTCGCTACAAACAGTTG	0.373													G	31809761	A	G	31809761	3	3	104	1	0	0	0	0	1	0	0	0	17620	391	14	3	1538	3	ZEB1	10	31809761	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1996193	31809761	103724986	3808	70422											
KIF5B	3799	broad.mit.edu	37	chr10	32311856	32311856	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctctcagtttgtgtgctttCtaactgcttgcaacgtttca	8	10	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:32311856C>T	uc001iwe.3	-	16	2304	c.1834G>A	c.(1834-1836)GAA>AAA	p.E612K		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	612					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)				TGTGTGCTTTCTAACTGCTTG	0.378													T	32311856	C	T	32311856	3	4	104	1	0	0	0	0	1	0	0	0	8306	922	32	4	1097	4	KIF5B	10	32311856	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	502095	32311856	103222891	3809	70423											
KIF5B	3799	broad.mit.edu	37	chr10	32327109	32327109	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctttacatagggaactcgGtttttgtcttcatgaactga	8	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:32327109G>T	uc001iwe.3	-	6	950	c.480C>A	c.(478-480)AAC>AAA	p.N160K		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	160	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)				AGGGAACTCGGTTTTTGTCTT	0.259													T	32327109	G	T	32327109	3	4	104	1	0	0	0	0	1	0	0	0	8306	1252	44	5	2491	5	KIF5B	10	32327109	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	15253	32327109	103207638	3810	70424											
C10orf68	79741	broad.mit.edu	37	chr10	33000570	33000570	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgatgaagaatcaggtgaAaatcctatgcttaaacatca	7	7	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:33000570A>C	uc001iwn.3	+	7	875	c.402A>C	c.(400-402)GAA>GAC	p.E134D	C10orf68_uc001iwl.1_Missense_Mutation_p.E142D|C10orf68_uc001iwm.1_Missense_Mutation_p.E110D|C10orf68_uc010qei.1_Missense_Mutation_p.E61D	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	134										skin(2)|ovary(1)	3						AATCAGGTGAAAATCCTATGC	0.323													C	33000570	A	C	33000570	3	2	104	1	0	0	0	0	1	0	0	0	1613	11	1	5	420	5	C10orf68	10	33000570	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	673461	33000570	102534177	3811	70425											
C10orf68	79741	broad.mit.edu	37	chr10	33143334	33143334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctcatttttttagggcattCgaaagttgttaccttaagcc	7	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:33143334C>T	uc001iwn.3	+	21	2230	c.1757C>T	c.(1756-1758)TCG>TTG	p.S586L	C10orf68_uc001iwl.1_Missense_Mutation_p.S545L|C10orf68_uc001iwm.1_Missense_Mutation_p.S590L|C10orf68_uc010qei.1_Missense_Mutation_p.S562L|C10orf68_uc001iwo.3_RNA	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	586										skin(2)|ovary(1)	3						TTAGGGCATTCGAAAGTTGTT	0.279													T	33143334	C	T	33143334	3	4	104	1	0	0	0	0	1	0	0	0	1613	893	31	1	1831	1	C10orf68	10	33143334	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	142764	33143334	102391413	3812	70426											
NRP1	8829	broad.mit.edu	37	chr10	33545355	33545355	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccgatgaggatcggattcGacctggtgttttctgtccac	12	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:33545355G>A	uc001iwx.3	-	5	1226	c.703C>T	c.(703-705)CGA>TGA	p.R235*	NRP1_uc001iwv.3_Nonsense_Mutation_p.R235*|NRP1_uc009xlz.2_Nonsense_Mutation_p.R235*|NRP1_uc001iww.3_Nonsense_Mutation_p.R54*|NRP1_uc001iwy.3_Nonsense_Mutation_p.R235*|NRP1_uc001iwz.2_Nonsense_Mutation_p.R235*|NRP1_uc001ixa.2_Nonsense_Mutation_p.R235*|NRP1_uc001ixb.1_Nonsense_Mutation_p.R235*|NRP1_uc001ixc.1_Nonsense_Mutation_p.R235*	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	235	Extracellular (Potential).|CUB 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	GATCGGATTCGACCTGGTGTT	0.488													A	33545355	G	A	33545355	4	1	104	1	0	0	0	0	0	1	0	0	10660	1066	37	1	2131	1	NRP1	10	33545355	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	402021	33545355	101989392	3813	70427											
CREM	1390	broad.mit.edu	37	chr10	35467886	35467886	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgattctcataaacgtagaGaaatcctttcacgaagaccc	6	10	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:35467886G>T	uc001iyb.2	+	4	400	c.238G>T	c.(238-240)GAA>TAA	p.E80*	CREM_uc001ixx.2_Nonsense_Mutation_p.E64*|CREM_uc001ixy.2_Intron|CREM_uc001ixz.2_Intron|CREM_uc001iya.2_Nonsense_Mutation_p.E80*|CREM_uc001iyc.2_Nonsense_Mutation_p.E64*|CREM_uc001iyd.2_Nonsense_Mutation_p.E80*|CREM_uc001iye.2_Nonsense_Mutation_p.E80*|CREM_uc001iyf.2_Nonsense_Mutation_p.E50*|CREM_uc001iyg.2_Nonsense_Mutation_p.E50*|CREM_uc001iyh.2_Nonsense_Mutation_p.E25*|CREM_uc001iyi.2_Nonsense_Mutation_p.E25*|CREM_uc001iyj.2_5'UTR|CREM_uc001iyk.2_5'UTR	NM_181571	NP_853549	Q03060	CREM_HUMAN	cAMP responsive element modulator isoform a	129	KID.				cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TAAACGTAGAGAAATCCTTTC	0.318													T	35467886	G	T	35467886	4	4	104	1	0	0	0	0	0	1	0	0	3868	943	33	5	337	5	CREM	10	35467886	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1922531	35467886	100066861	3814	70428											
CCNY	219771	broad.mit.edu	37	chr10	35842060	35842060	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgtgggatgaccaggcTgtatggaatgtggattactg	16	4	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:35842060T>C	uc001iyw.3	+	8	873	c.693T>C	c.(691-693)GCT>GCC	p.A231A	CCNY_uc001iyu.3_Silent_p.A177A|CCNY_uc001iyv.3_Silent_p.A177A|CCNY_uc001iyx.3_Silent_p.A177A|CCNY_uc009xmb.2_Silent_p.A206A|CCNY_uc010qet.1_Silent_p.A98A	NM_145012	NP_659449	Q8ND76	CCNY_HUMAN	cyclin Y isoform 1	231	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding				0						ATGACCAGGCTGTATGGAATG	0.527													C	35842060	T	C	35842060	2	2	104	1	0	0	0	0	0	0	0	1	2936	1567	55	3		3	CCNY	10	35842060	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	374174	35842060	99692687	3815	70429											
ANKRD30A	91074	broad.mit.edu	37	chr10	37422915	37422915	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcttcagcaaaatgttgAcgtctttgctgcagatatat	8	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:37422915A>G	uc001iza.1	+	5	620	c.521A>G	c.(520-522)GAC>GGC	p.D174G		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	230	ANK 5.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						CAAAATGTTGACGTCTTTGCT	0.383													G	37422915	A	G	37422915	3	3	104	1	0	0	0	0	1	0	0	0	658	275	10	3	539	3	ANKRD30A	10	37422915	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1580855	37422915	98111832	3816	70430											
ANKRD30A	91074	broad.mit.edu	37	chr10	37454065	37454065	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaaaggactatgaagaAaattcttgggatactgaggt	10	4	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:37454065A>C	uc001iza.1	+	18	1977	c.1878A>C	c.(1876-1878)GAA>GAC	p.E626D		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	682						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						ACTATGAAGAAAATTCTTGGG	0.294													C	37454065	A	C	37454065	3	2	104	1	0	0	0	0	1	0	0	0	658	11	1	5	1948	5	ANKRD30A	10	37454065	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	31150	37454065	98080682	3817	70431											
ANKRD30A	91074	broad.mit.edu	37	chr10	37490200	37490200	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagaaggatgtgtgtgTacccaaggctacacatcaaa	9	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:37490200T>C	uc001iza.1	+	31	2747	c.2648T>C	c.(2647-2649)GTA>GCA	p.V883A		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	939						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						GATGTGTGTGTACCCAAGGCT	0.303													C	37490200	T	C	37490200	3	2	104	1	0	0	0	0	1	0	0	0	658	1638	57	3	2770	3	ANKRD30A	10	37490200	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	36135	37490200	98044547	3818	70432											
ZNF248	57209	broad.mit.edu	37	chr10	38121547	38121547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatgaaggttcttccacattCgttatatttacagactgtct	6	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:38121547C>T	uc001izd.1	-	6	1235	c.736G>A	c.(736-738)GAA>AAA	p.E246K	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.E246K	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	246	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTTCCACATTCGTTATATTTA	0.368													T	38121547	C	T	38121547	3	4	104	1	0	0	0	0	1	0	0	0	17790	893	31	1	1007	1	ZNF248	10	38121547	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	631347	38121547	97413200	3819	70433											
ZNF248	57209	broad.mit.edu	37	chr10	38121740	38121740	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctctccaatagggattttCtcatgcctaatatcaaggag	7	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:38121740C>A	uc001izd.1	-	6	1042	c.543G>T	c.(541-543)GAG>GAT	p.E181D	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.E181D	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TAGGGATTTTCTCATGCCTAA	0.338													A	38121740	C	A	38121740	3	1	104	1	0	0	0	0	1	0	0	0	17790	912	32	5	1200	5	ZNF248	10	38121740	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	193	38121740	97413007	3820	70434											
BMS1	9790	broad.mit.edu	37	chr10	43316063	43316063	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accatcccactgtattatatCgaagaccacaatggaagaca	6	11	0	2	rs1044443		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:43316063C>T	uc001jaj.2	+	17	3235	c.2877C>T	c.(2875-2877)ATC>ATT	p.I959I		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	959					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						TGTATTATATCGAAGACCACA	0.423													T	43316063	C	T	43316063	2	4	104	1	0	0	0	0	0	0	0	1	1472	874	31	1		1	BMS1	10	43316063	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5194323	43316063	92218684	3821	70435											
RET	5979	broad.mit.edu	37	chr10	43608350	43608350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagcaccaagacctgcccCgacggccactgcgatgttgt	10	17	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:43608350C>T	uc001jal.2	+	9	1888	c.1698C>T	c.(1696-1698)CCC>CCT	p.P566P	RET_uc001jak.1_Silent_p.P566P|RET_uc010qez.1_Silent_p.P312P	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	566	Extracellular (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	AGACCTGCCCCGACGGCCACT	0.597		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				T	43608350	C	T	43608350	2	4	104	1	0	0	0	0	0	0	0	1	13235	639	23	1		1	RET	10	43608350	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	292287	43608350	91926397	3822	70436											
ZNF239	8187	broad.mit.edu	37	chr10	44052344	44052344	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcttctctccagtgtggactCtgagatggatgcgaagatcc	12	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:44052344C>T	uc001jaw.3	-	2	1837	c.1184G>A	c.(1183-1185)AGA>AAA	p.R395K	ZNF239_uc001jax.3_Missense_Mutation_p.R395K|ZNF239_uc009xmj.2_Missense_Mutation_p.R395K|ZNF239_uc009xmk.2_Missense_Mutation_p.R395K	NM_005674	NP_005665	Q16600	ZN239_HUMAN	zinc finger protein 239	395	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding				0						AGTGTGGACTCTGAGATGGAT	0.517													T	44052344	C	T	44052344	3	4	104	1	0	0	0	0	1	0	0	0	17788	913	32	4	196	4	ZNF239	10	44052344	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	443994	44052344	91482403	3823	70437											
ZNF239	8187	broad.mit.edu	37	chr10	44053445	44053445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccccactgttgacaagggGaaatatctagttcaggctcc	9	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:44053445G>A	uc001jaw.3	-	2	736	c.83C>T	c.(82-84)TCC>TTC	p.S28F	ZNF239_uc001jax.3_Missense_Mutation_p.S28F|ZNF239_uc009xmj.2_Missense_Mutation_p.S28F|ZNF239_uc009xmk.2_Missense_Mutation_p.S28F	NM_005674	NP_005665	Q16600	ZN239_HUMAN	zinc finger protein 239	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding				0						TTGACAAGGGGAAATATCTAG	0.443													A	44053445	G	A	44053445	3	1	104	1	0	0	0	0	1	0	0	0	17788	1174	41	4	1297	4	ZNF239	10	44053445	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1101	44053445	91481302	3824	70438											
ANUBL1	93550	broad.mit.edu	37	chr10	46121766	46121766	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgagaagaagaaggctgtAgcttcccaaactcaaaacat	8	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:46121766A>G	uc001jcp.3	-	7	1747	c.1505T>C	c.(1504-1506)CTA>CCA	p.L502P	ANUBL1_uc001jcl.3_Missense_Mutation_p.L22P|ANUBL1_uc001jcm.3_Missense_Mutation_p.L502P|ANUBL1_uc009xmu.2_Missense_Mutation_p.L428P|ANUBL1_uc001jcn.3_Missense_Mutation_p.L428P|ANUBL1_uc001jco.3_Intron	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN	AN1, ubiquitin-like, homolog	502							zinc ion binding				0						AGAAGGCTGTAGCTTCCCAAA	0.413													G	46121766	A	G	46121766	3	3	104	1	0	0	0	0	1	0	0	0	713	420	15	3	694	3	ANUBL1	10	46121766	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2068321	46121766	89412981	3825	70439											
GDF2	2658	broad.mit.edu	37	chr10	48414100	48414100	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgctgtggtcattggagaaGacaacaaagaagggcaggtt	14	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:48414100G>A	uc001jfa.1	-	2	931	c.768C>T	c.(766-768)GTC>GTT	p.V256V		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	256					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3						CATTGGAGAAGACAACAAAGA	0.547													A	48414100	G	A	48414100	2	1	104	1	0	0	0	0	0	0	0	1	6314	929	33	4		4	GDF2	10	48414100	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2292334	48414100	87120647	3826	70440											
FRMPD2	143162	broad.mit.edu	37	chr10	49444554	49444554	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccggcagatgtagtgtcaTcggggcctctccagccaaca	11	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:49444554T>C	uc001jgi.2	-	9	1071	c.964A>G	c.(964-966)ATG>GTG	p.M322V	FRMPD2_uc001jgh.2_Missense_Mutation_p.M291V|FRMPD2_uc001jgj.2_Missense_Mutation_p.M300V	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	322					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		TGTAGTGTCATCGGGGCCTCT	0.557													C	49444554	T	C	49444554	3	2	104	1	0	0	0	0	1	0	0	0	6058	1435	50	3	3049	3	FRMPD2	10	49444554	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1030454	49444554	86090193	3827	70441											
SLC18A3	6572	broad.mit.edu	37	chr10	50819126	50819126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggctcagcccttcggcccCgctaccctacggagagcgaa	12	17	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:50819126C>T	uc001jhw.2	+	1	780	c.340C>T	c.(340-342)CGC>TGC	p.R114C	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	114	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						CCTTCGGCCCCGCTACCCTAC	0.662													T	50819126	C	T	50819126	3	4	104	1	0	0	0	0	1	0	0	0	14427	652	23	1	342	1	SLC18A3	10	50819126	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1374572	50819126	84715621	3828	70442											
CHAT	1103	broad.mit.edu	37	chr10	50830170	50830170	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagcctcatctctggtgtActcagctacaaggccctgct	9	15	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:50830170A>G	uc001jhz.2	+	5	879	c.726A>G	c.(724-726)GTA>GTG	p.V242V	CHAT_uc001jhv.1_Silent_p.V124V|CHAT_uc001jhx.1_Silent_p.V124V|CHAT_uc001jhy.1_Silent_p.V124V|CHAT_uc001jia.2_Silent_p.V124V|CHAT_uc010qgs.1_Silent_p.V124V	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	242					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TCTCTGGTGTACTCAGCTACA	0.483													G	50830170	A	G	50830170	2	3	104	1	0	0	0	0	0	0	0	1	3313	378	14	3		3	CHAT	10	50830170	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	11044	50830170	84704577	3829	70443											
OGDHL	55753	broad.mit.edu	37	chr10	50953530	50953530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctcattgtggccacgccGgcggtaacagacctgcagga	12	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:50953530G>A	uc001jie.2	-	12	1631	c.1489C>T	c.(1489-1491)CGG>TGG	p.R497W	OGDHL_uc009xog.2_Missense_Mutation_p.R524W|OGDHL_uc010qgt.1_Missense_Mutation_p.R440W|OGDHL_uc010qgu.1_Missense_Mutation_p.R288W|OGDHL_uc009xoh.2_Missense_Mutation_p.R288W	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	497					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						TGGCCACGCCGGCGGTAACAG	0.572													A	50953530	G	A	50953530	3	1	104	1	0	0	0	0	1	0	0	0	10840	1115	39	1	1591	1	OGDHL	10	50953530	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	123360	50953530	84581217	3830	70444											
MSMB	4477	broad.mit.edu	37	chr10	51562273	51562273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttttgtctcaatgacagtgTttctacacctgtgggttatg	10	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:51562273T>C	uc001jiq.2	+	4	250	c.218T>C	c.(217-219)GTT>GCT	p.V73A	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|MSMB_uc001jir.2_Missense_Mutation_p.F38L|NCOA4_uc009xon.2_5'Flank|NCOA4_uc010qhd.1_5'Flank|NCOA4_uc001jis.3_5'Flank|NCOA4_uc010qhe.1_5'Flank|NCOA4_uc010qhf.1_5'Flank	NM_002443	NP_002434	P08118	MSMB_HUMAN	beta-microseminoprotein isoform a precursor	73						extracellular space|nucleus				ovary(2)	2						AATGACAGTGTTTCTACACCT	0.498									Hereditary_Prostate_Cancer				C	51562273	T	C	51562273	3	2	104	1	0	0	0	0	1	0	0	0	9883	1725	60	3	232	3	MSMB	10	51562273	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	608743	51562273	83972474	3831	70445											
FAM21A	387680	broad.mit.edu	37	chr10	51829368	51829368	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taggacccatgaaatcaagaAacaagtggacggactaattc	9	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:51829368A>C	uc001jjb.2	+	3	270	c.188A>C	c.(187-189)AAA>ACA	p.K63T	uc001jiz.1_5'Flank|FAM21A_uc001jja.1_5'UTR|FAM21A_uc010qhi.1_Missense_Mutation_p.K63T|FAM21A_uc010qhj.1_Missense_Mutation_p.K63T	NM_001005751	NP_001005751	Q641Q2	FA21A_HUMAN	hypothetical protein LOC387680	63					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				ovary(1)	1						GAAATCAAGAAACAAGTGGAC	0.378													C	51829368	A	C	51829368	3	2	104	1	0	0	0	0	1	0	0	0	5540	14	1	5	198	5	FAM21A	10	51829368	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	267095	51829368	83705379	3832	70446											
SGMS1	259230	broad.mit.edu	37	chr10	52103662	52103662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgtgtgcttccaaatgGtgctccattttcagggtttc	9	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:52103662G>A	uc001jje.2	-	7	1167	c.213C>T	c.(211-213)CAC>CAT	p.H71H	SGMS1_uc010qhk.1_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc009xou.1_Silent_p.H71H|SGMS1_uc010qhl.1_RNA	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	77					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			ovary(1)|kidney(1)	2						CTTCCAAATGGTGCTCCATTT	0.527													A	52103662	G	A	52103662	2	1	104	1	0	0	0	0	0	0	0	1	14214	1252	44	4		4	SGMS1	10	52103662	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	274294	52103662	83431085	3833	70447											
PRKG1	5592	broad.mit.edu	37	chr10	52912940	52912940	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataggtccaaggatcttataAaggaagctatccttgacaat	8	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:52912940A>C	uc001jjm.2	+	2	477	c.283A>C	c.(283-285)AAG>CAG	p.K95Q	PRKG1_uc001jjn.2_Missense_Mutation_p.K110Q|PRKG1_uc001jjo.2_Missense_Mutation_p.K110Q|PRKG1_uc010qhp.1_Missense_Mutation_p.K95Q	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	95	Dimerization.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GGATCTTATAAAGGAAGCTAT	0.458													C	52912940	A	C	52912940	3	2	104	1	0	0	0	0	1	0	0	0	12522	15	1	5	604	5	PRKG1	10	52912940	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	809278	52912940	82621807	3834	70448											
CSTF2T	23283	broad.mit.edu	37	chr10	53458833	53458833	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggattttgaagtaacatgttTcgagcttcctggtggctgtt	12	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:53458833T>G	uc001jjp.2	-	1	523	c.477A>C	c.(475-477)CGA>CGC	p.R159R	PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit	159					mRNA processing	nucleus	nucleotide binding|RNA binding			ovary(1)	1				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GTAACATGTTTCGAGCTTCCT	0.468													G	53458833	T	G	53458833	2	3	104	1	0	0	0	0	0	0	0	1	3985	1770	62	5		5	CSTF2T	10	53458833	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	545893	53458833	82075914	3835	70449											
PCDH15	65217	broad.mit.edu	37	chr10	55566762	55566762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcaatatatatattgccGttgatattactgtggatact	8	5	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:55566762G>A	uc010qhq.1	-	36	5021	c.4626C>T	c.(4624-4626)AAC>AAT	p.N1542N	PCDH15_uc010qhr.1_Silent_p.N1537N	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD3-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				ATATATTGCCGTTGATATTAC	0.478										HNSCC(58;0.16)			A	55566762	G	A	55566762	2	1	104	1	0	0	0	0	0	0	0	1	11511	1136	40	1		1	PCDH15	10	55566762	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2107929	55566762	79967985	3836	70450											
PCDH15	65217	broad.mit.edu	37	chr10	55569095	55569095	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatcttcttcctcaaggcgtCtctgccactcttcaccctca	4	17	7	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:55569095C>T	uc010qhs.1	-	37	5125	c.4730G>A	c.(4729-4731)AGA>AAA	p.R1577K	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.R1570K|PCDH15_uc010qhu.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD2-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CTCAAGGCGTCTCTGCCACTC	0.433										HNSCC(58;0.16)			T	55569095	C	T	55569095	3	4	104	1	0	0	0	0	1	0	0	0	11511	913	32	4	1201	4	PCDH15	10	55569095	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2333	55569095	79965652	3837	70451											
PCDH15	65217	broad.mit.edu	37	chr10	55569225	55569225	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctcagctgctggtggttTttcgatagttacaactactt	10	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:55569225T>G	uc010qhs.1	-	37	4995	c.4600A>C	c.(4600-4602)AAA>CAA	p.K1534Q	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.K1527Q|PCDH15_uc010qhu.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD2-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTGGTGGTTTTTCGATAGTT	0.373										HNSCC(58;0.16)			G	55569225	T	G	55569225	3	3	104	1	0	0	0	0	1	0	0	0	11511	1850	64	5	1331	5	PCDH15	10	55569225	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	130	55569225	79965522	3838	70452											
PCDH15	65217	broad.mit.edu	37	chr10	55582450	55582450	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgatttgagttccacagttCttgaaacagttggcaaagtg	10	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:55582450C>T	uc001jju.1	-	33	5431	c.5036G>A	c.(5035-5037)AGA>AAA	p.R1679K	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.R1676K|PCDH15_uc010qhw.1_Missense_Mutation_p.R1639K|PCDH15_uc010qhx.1_Missense_Mutation_p.R1610K|PCDH15_uc010qhy.1_Missense_Mutation_p.R1686K|PCDH15_uc010qhz.1_Missense_Mutation_p.R1681K|PCDH15_uc010qia.1_Missense_Mutation_p.R1659K|PCDH15_uc010qib.1_Missense_Mutation_p.R1656K	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1679	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCCACAGTTCTTGAAACAGT	0.418										HNSCC(58;0.16)			T	55582450	C	T	55582450	3	4	104	1	0	0	0	0	1	0	0	0	11511	913	32	4	2441	4	PCDH15	10	55582450	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	13225	55582450	79952297	3839	70453											
PCDH15	65217	broad.mit.edu	37	chr10	55700682	55700682	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttgattaatggcagcagcaGaaattacaccaaccatggtc	8	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:55700682G>T	uc001jju.1	-	24	3571	c.3176C>A	c.(3175-3177)TCT>TAT	p.S1059Y	PCDH15_uc010qhq.1_Missense_Mutation_p.S1064Y|PCDH15_uc010qhr.1_Missense_Mutation_p.S1059Y|PCDH15_uc010qhs.1_Missense_Mutation_p.S1071Y|PCDH15_uc010qht.1_Missense_Mutation_p.S1066Y|PCDH15_uc010qhu.1_Missense_Mutation_p.S1059Y|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.S1059Y|PCDH15_uc010qhw.1_Missense_Mutation_p.S1022Y|PCDH15_uc010qhx.1_Missense_Mutation_p.S988Y|PCDH15_uc010qhy.1_Missense_Mutation_p.S1064Y|PCDH15_uc010qhz.1_Missense_Mutation_p.S1059Y|PCDH15_uc010qia.1_Missense_Mutation_p.S1037Y|PCDH15_uc010qib.1_Missense_Mutation_p.S1037Y	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1059	Cadherin 10.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				GGCAGCAGCAGAAATTACACC	0.368										HNSCC(58;0.16)			T	55700682	G	T	55700682	3	4	104	1	0	0	0	0	1	0	0	0	11511	942	33	5	4350	5	PCDH15	10	55700682	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	118232	55700682	79834065	3840	70454											
BICC1	80114	broad.mit.edu	37	chr10	60548181	60548181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatctgcccgagttagaattCgggtaactatttattacttt	7	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:60548181C>T	uc001jki.1	+	6	598	c.598C>T	c.(598-600)CGG>TGG	p.R200W		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	200					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						AGTTAGAATTCGGGTAACTAT	0.303													T	60548181	C	T	60548181	3	4	104	1	0	0	0	0	1	0	0	0	1427	875	31	1	620	1	BICC1	10	60548181	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4847499	60548181	74986566	3841	70455											
PHYHIPL	84457	broad.mit.edu	37	chr10	61005148	61005148	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaattctaaggataataaaTttttgacctgtacagaagaa	6	4	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:61005148T>G	uc001jkk.3	+	5	1194	c.928T>G	c.(928-930)TTT>GTT	p.F310V	PHYHIPL_uc001jkl.3_Missense_Mutation_p.F264V|PHYHIPL_uc001jkm.3_Missense_Mutation_p.F284V	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting	310											0						GGATAATAAATTTTTGACCTG	0.413													G	61005148	T	G	61005148	3	3	104	1	0	0	0	0	1	0	0	0	11867	1493	52	5	978	5	PHYHIPL	10	61005148	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	456967	61005148	74529599	3842	70456											
PHYHIPL	84457	broad.mit.edu	37	chr10	61005308	61005308	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctactgcaaatgcaaagaAagatcccagctgcaaaacct	7	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:61005308A>C	uc001jkk.3	+	5	1354	c.1088A>C	c.(1087-1089)AAA>ACA	p.K363T	PHYHIPL_uc001jkl.3_Missense_Mutation_p.K317T|PHYHIPL_uc001jkm.3_Missense_Mutation_p.K337T	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting	363											0						AATGCAAAGAAAGATCCCAGC	0.448													C	61005308	A	C	61005308	3	2	104	1	0	0	0	0	1	0	0	0	11867	14	1	5	1138	5	PHYHIPL	10	61005308	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	160	61005308	74529439	3843	70457											
FAM13C	220965	broad.mit.edu	37	chr10	61011369	61011369	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaaaactgttcttcaaattCtcttaaggctttccgcagtc	5	10	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:61011369C>A	uc001jkn.2	-	14	1734	c.1600G>T	c.(1600-1602)GAA>TAA	p.E534*	FAM13C_uc001jko.2_Nonsense_Mutation_p.E436*|FAM13C_uc010qid.1_Nonsense_Mutation_p.E450*|FAM13C_uc010qie.1_Nonsense_Mutation_p.E451*|FAM13C_uc010qif.1_Nonsense_Mutation_p.E556*	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	534										ovary(2)	2						TCTTCAAATTCTCTTAAGGCT	0.388													A	61011369	C	A	61011369	4	1	104	1	0	0	0	0	0	1	0	0	5454	922	32	5	165	5	FAM13C	10	61011369	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	6061	61011369	74523378	3844	70458											
FAM13C	220965	broad.mit.edu	37	chr10	61062583	61062583	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catttaagtcctgccgagttTcaaaagcatcctttggcgaa	8	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:61062583T>G	uc001jkn.2	-	6	619	c.485A>C	c.(484-486)GAA>GCA	p.E162A	FAM13C_uc001jko.2_Missense_Mutation_p.E162A|FAM13C_uc010qid.1_Missense_Mutation_p.E79A|FAM13C_uc010qie.1_Missense_Mutation_p.E79A|FAM13C_uc010qif.1_Missense_Mutation_p.E184A|FAM13C_uc001jkp.2_Missense_Mutation_p.E79A	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	162										ovary(2)	2						CTGCCGAGTTTCAAAAGCATC	0.343													G	61062583	T	G	61062583	3	3	104	1	0	0	0	0	1	0	0	0	5454	1783	62	5	1312	5	FAM13C	10	61062583	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	51214	61062583	74472164	3845	70459											
CCDC6	8030	broad.mit.edu	37	chr10	61554295	61554295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggaattgtaataagacattCcagctctagtcagtgaagtt	10	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:61554295C>T	uc001jks.3	-	8	1802	c.1166G>A	c.(1165-1167)GGA>GAA	p.G389E		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	389						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton			ovary(3)|breast(1)	4				Kidney(211;0.0597)		ATAAGACATTCCAGCTCTAGT	0.433													T	61554295	C	T	61554295	3	4	104	1	0	0	0	0	1	0	0	0	2830	855	30	4	266	4	CCDC6	10	61554295	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	491712	61554295	73980452	3846	70460											
ANK3	288	broad.mit.edu	37	chr10	61831943	61831943	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcgttctctctcagtcacaGacataaattcattcttttga	5	10	5	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:61831943G>A	uc001jky.2	-	37	8888	c.8696C>T	c.(8695-8697)TCT>TTT	p.S2899F	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2899					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CTCAGTCACAGACATAAATTC	0.353													A	61831943	G	A	61831943	3	1	104	1	0	0	0	0	1	0	0	0	622	942	33	4	4778	4	ANK3	10	61831943	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	277648	61831943	73702804	3847	70461											
ANK3	288	broad.mit.edu	37	chr10	61832027	61832027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcatgaacaagtacatgcGaaagtttttctttctgagac	7	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:61832027G>A	uc001jky.2	-	37	8804	c.8612C>T	c.(8611-8613)TCG>TTG	p.S2871L	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2871					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						AAGTACATGCGAAAGTTTTTC	0.398													A	61832027	G	A	61832027	3	1	104	1	0	0	0	0	1	0	0	0	622	1059	37	1	4862	1	ANK3	10	61832027	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	84	61832027	73702720	3848	70462											
ANK3	288	broad.mit.edu	37	chr10	61844546	61844546	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtacagttgcgtggctaaCcccacagtttctaaaacttg	8	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:61844546C>T	uc001jky.2	-	32	4080	c.3888G>A	c.(3886-3888)GGG>GGA	p.G1296G	ANK3_uc001jkw.2_Silent_p.G430G|ANK3_uc009xpa.2_Silent_p.G430G|ANK3_uc001jkx.2_Silent_p.G474G|ANK3_uc010qih.1_Silent_p.G1297G|ANK3_uc001jkz.3_Silent_p.G1290G|ANK3_uc001jla.1_Silent_p.G362G|ANK3_uc001jlb.1_Silent_p.G814G|ANK3_uc001jkv.2_5'Flank	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1296					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GCGTGGCTAACCCCACAGTTT	0.373													T	61844546	C	T	61844546	2	4	104	1	0	0	0	0	0	0	0	1	622	494	18	4		4	ANK3	10	61844546	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	12519	61844546	73690201	3849	70463											
JMJD1C	221037	broad.mit.edu	37	chr10	64973807	64973807	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactgtaaaatgctcatttTtatcaatgataagaggactc	6	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:64973807T>G	uc001jmn.2	-	8	2420	c.2120A>C	c.(2119-2121)AAA>ACA	p.K707T	JMJD1C_uc001jml.2_Missense_Mutation_p.K488T|JMJD1C_uc001jmm.2_Missense_Mutation_p.K419T|JMJD1C_uc010qiq.1_Missense_Mutation_p.K525T|JMJD1C_uc009xpi.2_Missense_Mutation_p.K525T|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_Missense_Mutation_p.K419T	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	707					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATGCTCATTTTTATCAATGAT	0.368													G	64973807	T	G	64973807	3	3	104	1	0	0	0	0	1	0	0	0	7950	1841	64	5	5578	5	JMJD1C	10	64973807	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	3129261	64973807	70560940	3850	70464											
SIRT1	23411	broad.mit.edu	37	chr10	69648688	69648688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatgattggcacagatcctcGaacaattcttaaagatttat	6	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:69648688G>A	uc001jnd.2	+	3	649	c.596G>A	c.(595-597)CGA>CAA	p.R199Q	SIRT1_uc010qis.1_Intron|SIRT1_uc009xpp.2_Missense_Mutation_p.R7Q|SIRT1_uc001jne.2_5'Flank	NM_012238	NP_036370	Q96EB6	SIRT1_HUMAN	sirtuin 1 isoform a	199	Interaction with HIST1H1E.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding				0						ACAGATCCTCGAACAATTCTT	0.368													A	69648688	G	A	69648688	3	1	104	1	0	0	0	0	1	0	0	0	14337	1058	37	1	606	1	SIRT1	10	69648688	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4674881	69648688	65886059	3851	70465											
HERC4	26091	broad.mit.edu	37	chr10	69700806	69700806	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccacaatggtacaattataAattgctaagccacagataac	5	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:69700806A>C	uc001jng.3	-	21	2729	c.2418T>G	c.(2416-2418)ATT>ATG	p.I806M	HERC4_uc009xpq.2_Missense_Mutation_p.I339M|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.I798M|HERC4_uc009xpr.2_Intron|HERC4_uc001jni.3_Missense_Mutation_p.I542M	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	806	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						TACAATTATAAATTGCTAAGC	0.328													C	69700806	A	C	69700806	3	2	104	1	0	0	0	0	1	0	0	0	7060	10	1	5	779	5	HERC4	10	69700806	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	52118	69700806	65833941	3852	70466											
HERC4	26091	broad.mit.edu	37	chr10	69793738	69793738	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaccattttcatcattaagAcctagctgaccaaacttgtt	4	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:69793738A>G	uc001jng.3	-	6	980	c.669T>C	c.(667-669)GGT>GGC	p.G223G	HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Silent_p.G223G|HERC4_uc009xpr.2_Silent_p.G223G|HERC4_uc001jni.3_5'UTR|HERC4_uc001jnj.2_Silent_p.G223G	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	223	RCC1 5.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						CATCATTAAGACCTAGCTGAC	0.403													G	69793738	A	G	69793738	2	3	104	1	0	0	0	0	0	0	0	1	7060	262	10	3		3	HERC4	10	69793738	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	92932	69793738	65741009	3853	70467											
MYPN	84665	broad.mit.edu	37	chr10	69905258	69905258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcttctgactcagaaggcGaccctaacaaggaagagatg	10	10	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:69905258G>A	uc001jnm.3	+	5	1290	c.1105G>A	c.(1105-1107)GAC>AAC	p.D369N	MYPN_uc001jnl.1_Missense_Mutation_p.D369N|MYPN_uc001jnn.3_Missense_Mutation_p.D94N|MYPN_uc001jno.3_Missense_Mutation_p.D369N|MYPN_uc001jnp.1_Missense_Mutation_p.D369N|MYPN_uc009xps.2_Missense_Mutation_p.D369N|MYPN_uc009xpt.2_Missense_Mutation_p.D369N|MYPN_uc010qit.1_Missense_Mutation_p.D75N|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	369	Interaction with CARP.					nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						CTCAGAAGGCGACCCTAACAA	0.343													A	69905258	G	A	69905258	3	1	104	1	0	0	0	0	1	0	0	0	10098	1058	37	1	1115	1	MYPN	10	69905258	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	111520	69905258	65629489	3854	70468											
MYPN	84665	broad.mit.edu	37	chr10	69948801	69948801	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtattgctcccatctttgAcaagagactcaagcacttcc	7	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:69948801A>G	uc001jnm.3	+	14	3028	c.2843A>G	c.(2842-2844)GAC>GGC	p.D948G	MYPN_uc001jnn.3_Missense_Mutation_p.D673G|MYPN_uc001jno.3_Missense_Mutation_p.D948G|MYPN_uc009xpt.2_Missense_Mutation_p.D948G|MYPN_uc010qit.1_Missense_Mutation_p.D654G|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	948	Ig-like 3.|Interaction with ACTN.					nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						CCCATCTTTGACAAGAGACTC	0.453													G	69948801	A	G	69948801	3	3	104	1	0	0	0	0	1	0	0	0	10098	275	10	3	2889	3	MYPN	10	69948801	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	43543	69948801	65585946	3855	70469											
HNRNPH3	3189	broad.mit.edu	37	chr10	70099299	70099299	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccttttcgtgcaactgaaaAtgacattgctaatgtgagta	9	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:70099299A>C	uc001jnw.3	+	6	855	c.626A>C	c.(625-627)AAT>ACT	p.N209T	HNRNPH3_uc001jnx.3_Missense_Mutation_p.N194T|HNRNPH3_uc009xpu.2_Missense_Mutation_p.N78T|HNRNPH3_uc010qiv.1_Missense_Mutation_p.N101T|HNRNPH3_uc001jny.3_Missense_Mutation_p.N160T	NM_012207	NP_036339	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3	209	Gly-rich.|RRM 2.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			ovary(2)	2						GCAACTGAAAATGACATTGCT	0.368													C	70099299	A	C	70099299	3	2	104	1	0	0	0	0	1	0	0	0	7268	101	4	5	644	5	HNRNPH3	10	70099299	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	150498	70099299	65435448	3856	70470											
DNA2	1763	broad.mit.edu	37	chr10	70182635	70182635	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttattcccatacatgttgTtgcaactataagctaaaaac	5	8	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:70182635T>G	uc001jof.2	-	15	2479	c.2479A>C	c.(2479-2481)ACA>CCA	p.T827P	DNA2_uc001jog.1_Intron|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	741					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						ATACATGTTGTTGCAACTATA	0.303													G	70182635	T	G	70182635	3	3	104	1	0	0	0	0	1	0	0	0	4596	1725	60	5	989	5	DNA2	10	70182635	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	83336	70182635	65352112	3857	70471											
TET1	80312	broad.mit.edu	37	chr10	70446447	70446447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacaaacaacagtaagccttCgtcactgccaaccttaggtg	7	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:70446447C>T	uc001jok.3	+	11	5892	c.5387C>T	c.(5386-5388)TCG>TTG	p.S1796L		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1796					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						AGTAAGCCTTCGTCACTGCCA	0.428													T	70446447	C	T	70446447	3	4	104	1	0	0	0	0	1	0	0	0	15766	893	31	1	5425	1	TET1	10	70446447	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	263812	70446447	65088300	3858	70472											
TET1	80312	broad.mit.edu	37	chr10	70451273	70451273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgttgagcaccccaaccGtaatcatccaacccgcctct	5	18	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:70451273G>A	uc001jok.3	+	12	6618	c.6113G>A	c.(6112-6114)CGT>CAT	p.R2038H		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	2038					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						CACCCCAACCGTAATCATCCA	0.498													A	70451273	G	A	70451273	3	1	104	1	0	0	0	0	1	0	0	0	15766	1145	40	1	6155	1	TET1	10	70451273	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4826	70451273	65083474	3859	70473											
CCAR1	55749	broad.mit.edu	37	chr10	70525798	70525798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtctttgagtgtcctattgGactacagattagaggataat	10	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:70525798G>A	uc001joo.2	+	17	2379	c.2260G>A	c.(2260-2262)GAC>AAC	p.D754N	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Missense_Mutation_p.D559N|CCAR1_uc009xpx.1_Missense_Mutation_p.D728N|CCAR1_uc001jon.1_Missense_Mutation_p.D700N|CCAR1_uc010qiz.1_Missense_Mutation_p.D739N|CCAR1_uc010qja.1_Missense_Mutation_p.D739N|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	754	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7						TGTCCTATTGGACTACAGATT	0.274													A	70525798	G	A	70525798	3	1	104	1	0	0	0	0	1	0	0	0	2730	1174	41	4	2322	4	CCAR1	10	70525798	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	74525	70525798	65008949	3860	70474											
CCAR1	55749	broad.mit.edu	37	chr10	70550991	70550991	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taaagaatgaagacaaagatCaaaaatccaaggagaatggt	9	4	1	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:70550991C>A	uc001joo.2	+	25	3540	c.3421C>A	c.(3421-3423)CAA>AAA	p.Q1141K	CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	1141					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7						AGACAAAGATCAAAAATCCAA	0.264													A	70550991	C	A	70550991	3	1	104	1	0	0	0	0	1	0	0	0	2730	827	29	5	3515	5	CCAR1	10	70550991	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	25193	70550991	64983756	3861	70475											
STOX1	219736	broad.mit.edu	37	chr10	70644481	70644481	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agataaagaaaaaggcaagaAgtttggttttagtctcttat	9	3	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:70644481A>C	uc001jos.2	+	3	1016	c.929A>C	c.(928-930)AAG>ACG	p.K310T	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.K200T	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	310						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2						AAAGGCAAGAAGTTTGGTTTT	0.458													C	70644481	A	C	70644481	3	2	104	1	0	0	0	0	1	0	0	0	15318	72	3	5	939	5	STOX1	10	70644481	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	93490	70644481	64890266	3862	70476											
STOX1	219736	broad.mit.edu	37	chr10	70645601	70645601	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtgaaccctttaagacaAgctgcaagacaagacaaaga	10	9	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:70645601A>C	uc001jos.2	+	3	2136	c.2049A>C	c.(2047-2049)CAA>CAC	p.Q683H	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.Q573H	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	683						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2						CTTTAAGACAAGCTGCAAGAC	0.413													C	70645601	A	C	70645601	3	2	104	1	0	0	0	0	1	0	0	0	15318	69	3	5	2059	5	STOX1	10	70645601	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1120	70645601	64889146	3863	70477											
KIAA1279	26128	broad.mit.edu	37	chr10	70776080	70776080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcatcctgaggccgcccagGaaatagaagttgagctagaa	12	9	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:70776080G>A	uc001joy.2	+	7	1870	c.1774G>A	c.(1774-1776)GAA>AAA	p.E592K		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	KIF1 binding protein	592					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			ovary(1)	1						GGCCGCCCAGGAAATAGAAGT	0.398													A	70776080	G	A	70776080	3	1	104	1	0	0	0	0	1	0	0	0	8221	1175	41	4	1800	4	KIAA1279	10	70776080	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	130479	70776080	64758667	3864	70478											
VPS26A	9559	broad.mit.edu	37	chr10	70922222	70922222	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttattagtaagaataaaaatAcaacatatggagttacagct	6	4	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:70922222A>G	uc001jpb.2	+	6	738	c.612A>G	c.(610-612)ATA>ATG	p.I204M	VPS26A_uc001jpc.2_Missense_Mutation_p.I204M|VPS26A_uc009xqa.2_Missense_Mutation_p.I197M|VPS26A_uc001jpd.2_Missense_Mutation_p.I93M	NM_004896	NP_004887	O75436	VP26A_HUMAN	vacuolar protein sorting 26 A isoform 1	204					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity				0						GAATAAAAATACAACATATGG	0.264													G	70922222	A	G	70922222	3	3	104	1	0	0	0	0	1	0	0	0	17194	381	14	3	634	3	VPS26A	10	70922222	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	146142	70922222	64612525	3865	70479											
HK1	3098	broad.mit.edu	37	chr10	71144127	71144127	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctggatcttggaggaaccAatttccgtgtgctgctggtg	13	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:71144127A>C	uc001jpl.3	+	11	1710	c.1609A>C	c.(1609-1611)AAT>CAT	p.N537H	HK1_uc001jpg.3_Missense_Mutation_p.N525H|HK1_uc001jph.3_Missense_Mutation_p.N541H|HK1_uc001jpi.3_Missense_Mutation_p.N541H|HK1_uc001jpj.3_Missense_Mutation_p.N572H|HK1_uc001jpk.3_Missense_Mutation_p.N536H|HK1_uc009xqd.2_Missense_Mutation_p.N415H	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	537	Catalytic.|ATP 2.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						TGGAGGAACCAATTTCCGTGT	0.463													C	71144127	A	C	71144127	3	2	104	1	0	0	0	0	1	0	0	0	7190	130	5	5	1829	5	HK1	10	71144127	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	221905	71144127	64390620	3866	70480											
HK1	3098	broad.mit.edu	37	chr10	71152041	71152041	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacagactggtggacgaataTtccctaaatgctgggaaaca	11	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:71152041T>C	uc001jpl.3	+	15	2297	c.2196T>C	c.(2194-2196)TAT>TAC	p.Y732Y	HK1_uc001jpg.3_Silent_p.Y720Y|HK1_uc001jph.3_Silent_p.Y736Y|HK1_uc001jpi.3_Silent_p.Y736Y|HK1_uc001jpj.3_Silent_p.Y767Y|HK1_uc001jpk.3_Silent_p.Y731Y	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	732	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						TGGACGAATATTCCCTAAATG	0.562											OREG0020217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	71152041	T	C	71152041	2	2	104	1	0	0	0	0	0	0	0	1	7190	1500	52	3		3	HK1	10	71152041	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	7914	71152041	64382706	3867	70481											
COL13A1	1305	broad.mit.edu	37	chr10	71657243	71657243	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaactaggagtgcctaagcAgcatgccagcagctctgcgc	11	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:71657243A>C	uc001jpr.1	+	12	1206	c.670A>C	c.(670-672)AGC>CGC	p.S224R	COL13A1_uc001jqj.1_Missense_Mutation_p.S224R|COL13A1_uc001jps.1_Missense_Mutation_p.S195R|COL13A1_uc001jpt.1_Intron|COL13A1_uc001jpu.1_Intron|COL13A1_uc001jpv.1_Missense_Mutation_p.S224R|COL13A1_uc001jpx.1_Missense_Mutation_p.S224R|COL13A1_uc001jpw.1_Intron|COL13A1_uc001jpy.1_Intron|COL13A1_uc001jpz.1_Intron|COL13A1_uc001jqa.1_Missense_Mutation_p.S186R|COL13A1_uc001jqc.1_Missense_Mutation_p.S224R|COL13A1_uc001jqb.1_Missense_Mutation_p.S195R|COL13A1_uc001jql.2_Missense_Mutation_p.S224R|COL13A1_uc001jqd.1_Missense_Mutation_p.S212R|COL13A1_uc001jqe.1_Missense_Mutation_p.S207R|COL13A1_uc001jqf.1_Intron|COL13A1_uc001jqg.1_Missense_Mutation_p.S224R|COL13A1_uc001jqh.1_Missense_Mutation_p.S224R|COL13A1_uc001jqi.1_Missense_Mutation_p.S224R|COL13A1_uc010qjf.1_Intron|COL13A1_uc001jqk.1_Missense_Mutation_p.S84R	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN	alpha 1 type XIII collagen isoform 1	224	Extracellular (Potential).|Nonhelical region 2 (NC2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)	GTGCCTAAGCAGCATGCCAGC	0.607													C	71657243	A	C	71657243	3	2	104	1	0	0	0	0	1	0	0	0	3670	188	7	5	720	5	COL13A1	10	71657243	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	505202	71657243	63877504	3868	70482											
ADAMTS14	140766	broad.mit.edu	37	chr10	72517751	72517751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagagggcatccagcagCggcaggtggtgtgcaggacc	19	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:72517751C>T	uc001jrh.2	+	20	2971	c.2971C>T	c.(2971-2973)CGG>TGG	p.R991W	ADAMTS14_uc001jrg.2_Missense_Mutation_p.R994W	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	991	TSP type-1 4.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						CATCCAGCAGCGGCAGGTGGT	0.652													T	72517751	C	T	72517751	3	4	104	1	0	0	0	0	1	0	0	0	259	759	27	1	3058	1	ADAMTS14	10	72517751	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	860508	72517751	63016996	3869	70483											
ADAMTS14	140766	broad.mit.edu	37	chr10	72520350	72520350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcctcctggaaagccaaCgggatcagaggaccatcagc	12	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:72520350C>T	uc001jrh.2	+	22	3413	c.3413C>T	c.(3412-3414)ACG>ATG	p.T1138M	ADAMTS14_uc001jrg.2_Missense_Mutation_p.T1141M	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1138	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						GGAAAGCCAACGGGATCAGAG	0.577													T	72520350	C	T	72520350	3	4	104	1	0	0	0	0	1	0	0	0	259	536	19	1	3508	1	ADAMTS14	10	72520350	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2599	72520350	63014397	3870	70484											
SLC29A3	55315	broad.mit.edu	37	chr10	73122094	73122094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagggttcgtgctcctccGgacctgcctcatccccctct	8	20	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:73122094G>A	uc001jrr.3	+	6	1214	c.1157G>A	c.(1156-1158)CGG>CAG	p.R386Q	SLC29A3_uc001jrs.3_3'UTR|SLC29A3_uc010qjq.1_Missense_Mutation_p.R240Q|SLC29A3_uc001jrt.3_Missense_Mutation_p.R180Q|SLC29A3_uc001jru.3_Missense_Mutation_p.R198Q	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (nucleoside	386	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity				0						GTGCTCCTCCGGACCTGCCTC	0.622													A	73122094	G	A	73122094	3	1	104	1	0	0	0	0	1	0	0	0	14536	1116	39	1	1183	1	SLC29A3	10	73122094	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	601744	73122094	62412653	3871	70485											
CDH23	64072	broad.mit.edu	37	chr10	73466770	73466770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaactgcacggacaacgacGtgggcctcaatgcagagctc	12	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:73466770G>A	uc001jrx.3	+	25	3447	c.3070G>A	c.(3070-3072)GTG>ATG	p.V1024M	CDH23_uc001jry.2_Missense_Mutation_p.V640M|CDH23_uc001jrz.2_Missense_Mutation_p.V640M	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1024	Cadherin 10.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GGACAACGACGTGGGCCTCAA	0.657													A	73466770	G	A	73466770	3	1	104	1	0	0	0	0	1	0	0	0	3108	1145	40	1	3395	1	CDH23	10	73466770	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	344676	73466770	62067977	3872	70486											
CHST3	9469	broad.mit.edu	37	chr10	73767275	73767275	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcaacatcttctacctcttCgagccgctgtggcacatcga	9	14	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:73767275C>T	uc001jsn.2	+	3	926	c.486C>T	c.(484-486)TTC>TTT	p.F162F		NM_004273	NP_004264	Q7LGC8	CHST3_HUMAN	chondroitin 6-sulfotransferase 3	162	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity				0						TCTACCTCTTCGAGCCGCTGT	0.687													T	73767275	C	T	73767275	2	4	104	1	0	0	0	0	0	0	0	1	3405	883	31	1		1	CHST3	10	73767275	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	300505	73767275	61767472	3873	70487											
SPOCK2	9806	broad.mit.edu	37	chr10	73830147	73830147	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcagggcttgcagatggagtCtttgtttccatggagtttca	13	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:73830147C>A	uc001jso.1	-	5	842	c.397G>T	c.(397-399)GAC>TAC	p.D133Y	SPOCK2_uc001jsp.2_Missense_Mutation_p.D133Y	NM_014767	NP_055582	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	133	Kazal-like.				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding				0						CAGATGGAGTCTTTGTTTCCA	0.597													A	73830147	C	A	73830147	3	1	104	1	0	0	0	0	1	0	0	0	15079	913	32	5	905	5	SPOCK2	10	73830147	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	62872	73830147	61704600	3874	70488											
PLA2G12B	84647	broad.mit.edu	37	chr10	74714364	74714364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctgaataggactcctccGtgtcagggctcgtgtcgctc	12	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:74714364G>A	uc001jtf.1	-	1	147	c.80C>T	c.(79-81)ACG>ATG	p.T27M	PLA2G12B_uc009xqt.1_Translation_Start_Site|PLA2G12B_uc010qjz.1_Missense_Mutation_p.T27M	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB precursor	27					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			ovary(1)	1	Prostate(51;0.0198)					GGACTCCTCCGTGTCAGGGCT	0.582													A	74714364	G	A	74714364	3	1	104	1	0	0	0	0	1	0	0	0	11991	1145	40	1	523	1	PLA2G12B	10	74714364	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	884217	74714364	60820383	3875	70489											
P4HA1	5033	broad.mit.edu	37	chr10	74813221	74813221	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatctatggtagaaatctcGccttcatccagttgccttag	7	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:74813221G>A	uc010qka.1	-	7	925	c.591C>T	c.(589-591)GGC>GGT	p.G197G	P4HA1_uc001jtg.2_Silent_p.G197G|P4HA1_uc001jth.2_Silent_p.G197G|P4HA1_uc010qkb.1_Silent_p.G197G|P4HA1_uc001jti.2_RNA	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha I subunit isoform 2	197						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			ovary(1)	1	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TAGAAATCTCGCCTTCATCCA	0.448													A	74813221	G	A	74813221	2	1	104	1	0	0	0	0	0	0	0	1	11356	1074	38	1		1	P4HA1	10	74813221	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	98857	74813221	60721526	3876	70490											
TTC18	118491	broad.mit.edu	37	chr10	75035326	75035326	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcctccttgagggcataAcagctcatgtgcaagcactc	12	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:75035326A>C	uc009xrc.2	-	23	2882	c.2761T>G	c.(2761-2763)TTA>GTA	p.L921V	TTC18_uc001jty.2_Missense_Mutation_p.L921V|TTC18_uc001jtv.3_Missense_Mutation_p.L25V|TTC18_uc001jtw.3_Missense_Mutation_p.L25V|TTC18_uc001jtx.2_Missense_Mutation_p.L302V	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	921							binding			ovary(2)|central_nervous_system(1)	3	Prostate(51;0.0119)					TGAGGGCATAACAGCTCATGT	0.438													C	75035326	A	C	75035326	3	2	104	1	0	0	0	0	1	0	0	0	16682	40	2	5	628	5	TTC18	10	75035326	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	222105	75035326	60499421	3877	70491											
KIAA0913	23053	broad.mit.edu	37	chr10	75558819	75558819	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcagctaagggtgggggCgtgtaccctgaagtgttgtt	18	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:75558819C>T	uc009xrl.2	+	21	4253	c.4221C>T	c.(4219-4221)GGC>GGT	p.G1407G	KIAA0913_uc001jve.2_Silent_p.G1412G|KIAA0913_uc001jvf.2_Intron|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Silent_p.G842G|KIAA0913_uc010qkr.1_Silent_p.G830G|KIAA0913_uc001jvj.2_Silent_p.G830G|KIAA0913_uc009xrn.1_5'Flank	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	1407							zinc ion binding			breast(1)	1	Prostate(51;0.0112)					AGGGTGGGGGCGTGTACCCTG	0.562													T	75558819	C	T	75558819	2	4	104	1	0	0	0	0	0	0	0	1	8200	755	27	1		1	KIAA0913	10	75558819	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	523493	75558819	59975928	3878	70492											
MYST4	23522	broad.mit.edu	37	chr10	76784845	76784845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaactcagatgaagagaggCcaatgccacagctggagcct	11	11	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:76784845C>T	uc001jwn.1	+	17	3995	c.3502C>T	c.(3502-3504)CCA>TCA	p.P1168S	MYST4_uc001jwo.1_Missense_Mutation_p.P876S|MYST4_uc001jwp.1_Missense_Mutation_p.P985S	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1168					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					TGAAGAGAGGCCAATGCCACA	0.493			T	CREBBP	AML								T	76784845	C	T	76784845	3	4	104	1	0	0	0	0	1	0	0	0	10105	739	26	2	3560	2	MYST4	10	76784845	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1226026	76784845	58749902	3879	70493											
MYST4	23522	broad.mit.edu	37	chr10	76788342	76788342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggccaaaaggaacaaagCgcggtctatctaagtggagg	14	7	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:76788342C>T	uc001jwn.1	+	18	4253	c.3760C>T	c.(3760-3762)CGC>TGC	p.R1254C	MYST4_uc001jwo.1_Missense_Mutation_p.R962C|MYST4_uc001jwp.1_Missense_Mutation_p.R1071C	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1254					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					AGGAACAAAGCGCGGTCTATC	0.443			T	CREBBP	AML								T	76788342	C	T	76788342	3	4	104	1	0	0	0	0	1	0	0	0	10105	768	27	1	3822	1	MYST4	10	76788342	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3497	76788342	58746405	3880	70494											
KCNMA1	3778	broad.mit.edu	37	chr10	78651404	78651404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttttcctcagcaatcagaGcctccagctccggcgtggct	10	15	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:78651404G>A	uc001jxn.2	-	26	3398	c.3221C>T	c.(3220-3222)GCT>GTT	p.A1074V	KCNMA1_uc001jxj.2_Missense_Mutation_p.A1020V|KCNMA1_uc001jxk.1_Missense_Mutation_p.A692V|KCNMA1_uc009xrt.1_Missense_Mutation_p.A865V|KCNMA1_uc001jxl.1_Missense_Mutation_p.A699V|KCNMA1_uc001jxo.2_Missense_Mutation_p.A1057V|KCNMA1_uc001jxm.2_Missense_Mutation_p.A1016V|KCNMA1_uc001jxq.2_Missense_Mutation_p.A1046V|uc001jxp.2_Intron	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1074	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AGCAATCAGAGCCTCCAGCTC	0.587													A	78651404	G	A	78651404	3	1	104	1	0	0	0	0	1	0	0	0	8073	971	34	2	530	2	KCNMA1	10	78651404	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1863062	78651404	56883343	3881	70495											
KCNMA1	3778	broad.mit.edu	37	chr10	79397114	79397114	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggcccccgaagaaagtcAccatggaggaggccaggaaa	14	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:79397114A>G	uc001jxn.2	-	1	464	c.287T>C	c.(286-288)GTG>GCG	p.V96A	KCNMA1_uc001jxj.2_Missense_Mutation_p.V96A|KCNMA1_uc001jxo.2_Missense_Mutation_p.V96A|KCNMA1_uc001jxm.2_Missense_Mutation_p.V96A|KCNMA1_uc001jxq.2_Missense_Mutation_p.V96A|KCNMA1_uc001jxs.3_Missense_Mutation_p.V96A|KCNMA1_uc001jxt.3_Missense_Mutation_p.V96A	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	96	Helical; Name=Segment S0; (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GAAGAAAGTCACCATGGAGGA	0.602													G	79397114	A	G	79397114	3	3	104	1	0	0	0	0	1	0	0	0	8073	159	6	3	3707	3	KCNMA1	10	79397114	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	745710	79397114	56137633	3882	70496											
POLR3A	11128	broad.mit.edu	37	chr10	79779000	79779000	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttttgaaccagtttcctcaaGaaattgatgtttgctttgtt	7	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:79779000G>T	uc001jzn.2	-	9	1303	c.1209C>A	c.(1207-1209)TTC>TTA	p.F403L		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	403					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GTTTCCTCAAGAAATTGATGT	0.388													T	79779000	G	T	79779000	3	4	104	1	0	0	0	0	1	0	0	0	12228	933	33	5	3055	5	POLR3A	10	79779000	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	381886	79779000	55755747	3883	70497											
SFTPD	6441	broad.mit.edu	37	chr10	81706344	81706344	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attgttctgtgggagtaggtCttcatttctgcttccaggta	11	7	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:81706344C>A	uc001kbh.2	-	2	115	c.72G>T	c.(70-72)AAG>AAT	p.K24N	MBL1P_uc001kbf.2_Intron	NM_003019	NP_003010	P35247	SFTPD_HUMAN	pulmonary surfactant-associated protein D	24					cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			skin(1)	1	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			GGGAGTAGGTCTTCATTTCTG	0.572													A	81706344	C	A	81706344	3	1	104	1	0	0	0	0	1	0	0	0	14193	912	32	5	1083	5	SFTPD	10	81706344	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1927344	81706344	53828403	3884	70498											
NRG3	10718	broad.mit.edu	37	chr10	84118498	84118498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctttccctgacagataCgacgacatattccacagagc	8	12	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:84118498C>T	uc001kco.2	+	2	854	c.827C>T	c.(826-828)ACG>ATG	p.T276M	NRG3_uc010qlz.1_Missense_Mutation_p.T276M|NRG3_uc001kcp.2_Missense_Mutation_p.T55M|NRG3_uc001kcq.2_Translation_Start_Site	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	276	Ser/Thr-rich.|Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.T276R(1)		lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CTGACAGATACGACGACATAT	0.517													T	84118498	C	T	84118498	3	4	104	1	0	0	0	0	1	0	0	0	10649	536	19	1	1001	1	NRG3	10	84118498	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2412154	84118498	51416249	3885	70499											
NRG3	10718	broad.mit.edu	37	chr10	84745345	84745345	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaatgaaatacaaagagactCtgcattgaccaagtgacttg	8	7	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:84745345C>A	uc001kco.2	+	9	2102	c.2075C>A	c.(2074-2076)TCT>TAT	p.S692Y	NRG3_uc010qlz.1_Missense_Mutation_p.S691Y|NRG3_uc001kcp.2_Missense_Mutation_p.S495Y|NRG3_uc001kcq.2_Missense_Mutation_p.S342Y|NRG3_uc001kcr.2_Missense_Mutation_p.S366Y	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	716	Cytoplasmic (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CAAAGAGACTCTGCATTGACC	0.403													A	84745345	C	A	84745345	3	1	104	1	0	0	0	0	1	0	0	0	10649	913	32	5	2353	5	NRG3	10	84745345	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	626847	84745345	50789402	3886	70500											
GHITM	27069	broad.mit.edu	37	chr10	85902490	85902490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaggcagcattggaaccatCgatggaaaaaatatttaaaa	9	5	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:85902490C>T	uc001kcs.1	+	3	413	c.209C>T	c.(208-210)TCG>TTG	p.S70L	GHITM_uc010qma.1_Nonsense_Mutation_p.R26*|GHITM_uc010qmb.1_5'UTR	NM_014394	NP_055209	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	70	Mitochondrial matrix (Potential).				apoptosis	integral to membrane|mitochondrial inner membrane					0						TTGGAACCATCGATGGAAAAA	0.294													T	85902490	C	T	85902490	3	4	104	1	0	0	0	0	1	0	0	0	6370	893	31	1	215	1	GHITM	10	85902490	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1157145	85902490	49632257	3887	70501											
RGR	5995	broad.mit.edu	37	chr10	86012656	86012656	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccgtctctctggtgctcttCgtgtggctgtcttctgcctt	11	13	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:86012656C>T	uc001kdc.1	+	4	440	c.402C>T	c.(400-402)TTC>TTT	p.F134F	RGR_uc001kdd.1_Silent_p.F138F|RGR_uc001kde.1_Silent_p.F134F	NM_001012720	NP_001012738	P47804	RGR_HUMAN	retinal G-protein coupled receptor isoform 2	134	Helical; Name=4; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			ovary(1)	1						TGGTGCTCTTCGTGTGGCTGT	0.587													T	86012656	C	T	86012656	2	4	104	1	0	0	0	0	0	0	0	1	13291	883	31	1		1	RGR	10	86012656	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	110166	86012656	49522091	3888	70502											
LIPJ	142910	broad.mit.edu	37	chr10	90356076	90356076	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tatatcaaagatagctgaaaGaatcaaaatattttttgctt	5	4	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:90356076G>T	uc001kff.2	+	7	793	c.479G>T	c.(478-480)AGA>ATA	p.R160I		NM_001010939	NP_001010939	Q5W064	LIPJ_HUMAN	lipase, family member J	160					lipid catabolic process		hydrolase activity			ovary(1)	1		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		ATAGCTGAAAGAATCAAAATA	0.264													T	90356076	G	T	90356076	3	4	104	1	0	0	0	0	1	0	0	0	8826	942	33	5	497	5	LIPJ	10	90356076	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4343420	90356076	45178671	3889	70503											
LIPF	8513	broad.mit.edu	37	chr10	90427119	90427119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactacacatggtttgtttgGaaaattacatcctggaagcc	9	8	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:90427119G>A	uc001kfg.1	+	2	231	c.65G>A	c.(64-66)GGA>GAA	p.G22E	LIPF_uc009xtk.2_Missense_Mutation_p.G22E|LIPF_uc001kfh.1_Missense_Mutation_p.G32E|LIPF_uc010qmt.1_Missense_Mutation_p.G32E|LIPF_uc010qmu.1_Missense_Mutation_p.G22E	NM_004190	NP_004181	P07098	LIPG_HUMAN	lipase, gastric precursor	22					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity				0		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		GGTTTGTTTGGAAAATTACAT	0.368													A	90427119	G	A	90427119	3	1	104	1	0	0	0	0	1	0	0	0	8822	1174	41	4	67	4	LIPF	10	90427119	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	71043	90427119	45107628	3890	70504											
ANKRD22	118932	broad.mit.edu	37	chr10	90582738	90582738	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaattcaatctgggaaaatTttaatctccgtgcaatatcc	5	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:90582738T>G	uc001kfj.3	-	6	904	c.536A>C	c.(535-537)AAA>ACA	p.K179T		NM_144590	NP_653191	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	179											0		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		CTGGGAAAATTTTAATCTCCG	0.398													G	90582738	T	G	90582738	3	3	104	1	0	0	0	0	1	0	0	0	651	1841	64	5	43	5	ANKRD22	10	90582738	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	155619	90582738	44952009	3891	70505											
IFIT2	3433	broad.mit.edu	37	chr10	91066464	91066464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggtgtaacagatgttcttCgcagtgcagccaagttttat	10	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:91066464C>T	uc009xts.2	+	2	926	c.751C>T	c.(751-753)CGC>TGC	p.R251C	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	interferon-induced protein with	251	TPR 4.				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			ovary(1)|skin(1)	2		Colorectal(252;0.0161)				AGATGTTCTTCGCAGTGCAGC	0.433													T	91066464	C	T	91066464	3	4	104	1	0	0	0	0	1	0	0	0	7523	884	31	1	757	1	IFIT2	10	91066464	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	483726	91066464	44468283	3892	70506											
IFIT3	3437	broad.mit.edu	37	chr10	91099660	91099660	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccacaaaatgcaccaaaTtattggtatcttcaaggatt	5	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:91099660T>G	uc001kgf.2	+	2	1477	c.1248T>G	c.(1246-1248)AAT>AAG	p.N416K	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Missense_Mutation_p.N416K	NM_001549	NP_001540	O14879	IFIT3_HUMAN	interferon-induced protein with	416	TPR 7.				type I interferon-mediated signaling pathway		protein binding			central_nervous_system(1)	1						ATGCACCAAATTATTGGTATC	0.418													G	91099660	T	G	91099660	3	3	104	1	0	0	0	0	1	0	0	0	7524	1490	52	5	1263	5	IFIT3	10	91099660	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	33196	91099660	44435087	3893	70507											
KIF20B	9585	broad.mit.edu	37	chr10	91484801	91484801	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actctgcttcaagaacgagaGatattagaagaaaatgctga	9	6	2	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:91484801G>A	uc001kgs.1	+	15	1959	c.1887G>A	c.(1885-1887)GAG>GAA	p.E629E	KIF20B_uc001kgr.1_Silent_p.E629E|KIF20B_uc001kgt.1_5'UTR	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	629					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3						AAGAACGAGAGATATTAGAAG	0.358													A	91484801	G	A	91484801	2	1	104	1	0	0	0	0	0	0	0	1	8287	933	33	4		4	KIF20B	10	91484801	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	385141	91484801	44049946	3894	70508											
KIF20B	9585	broad.mit.edu	37	chr10	91498280	91498280	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggaactcaagctgaaagaaGaaatcacacagttaacaaat	7	7	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:91498280G>T	uc001kgs.1	+	20	3754	c.3682G>T	c.(3682-3684)GAA>TAA	p.E1228*	KIF20B_uc001kgr.1_Nonsense_Mutation_p.E1188*|KIF20B_uc001kgt.1_Nonsense_Mutation_p.E439*|KIF20B_uc009xtw.1_RNA	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	1228					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3						GCTGAAAGAAGAAATCACACA	0.303													T	91498280	G	T	91498280	4	4	104	1	0	0	0	0	0	1	0	0	8287	943	33	5	3636	5	KIF20B	10	91498280	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13479	91498280	44036467	3895	70509											
KIF20B	9585	broad.mit.edu	37	chr10	91528597	91528597	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagaaggaacactacagAaatttggagacttcttacaa	7	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:91528597A>C	uc001kgs.1	+	31	5266	c.5194A>C	c.(5194-5196)AAA>CAA	p.K1732Q	KIF20B_uc001kgr.1_Missense_Mutation_p.K1692Q|KIF20B_uc001kgt.1_Missense_Mutation_p.K943Q|KIF20B_uc009xtw.1_RNA	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	1732	Interaction with PIN1.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3						AACACTACAGAAATTTGGAGA	0.343													C	91528597	A	C	91528597	3	2	104	1	0	0	0	0	1	0	0	0	8287	247	9	5	5192	5	KIF20B	10	91528597	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	30317	91528597	44006150	3896	70510											
ANKRD1	27063	broad.mit.edu	37	chr10	92675935	92675935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagaaggaataccttatctCgggcgctaatttttgctcct	9	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:92675935C>T	uc001khe.1	-	6	892	c.644G>A	c.(643-645)CGA>CAA	p.R215Q		NM_014391	NP_055206	Q15327	ANKR1_HUMAN	cardiac ankyrin repeat protein	215					cellular lipid metabolic process|defense response|signal transduction		DNA binding				0		Colorectal(252;0.0475)				TACCTTATCTCGGGCGCTAAT	0.313													T	92675935	C	T	92675935	3	4	104	1	0	0	0	0	1	0	0	0	637	884	31	1	331	1	ANKRD1	10	92675935	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1147338	92675935	42858812	3897	70511											
BTAF1	9044	broad.mit.edu	37	chr10	93786976	93786976	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaattcaagatgaacatagcGaatactgttattagccaaga	7	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:93786976G>A	uc001khr.2	+	37	5423	c.5325G>A	c.(5323-5325)GCG>GCA	p.A1775A		NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	1775	Helicase C-terminal.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				TGAACATAGCGAATACTGTTA	0.368													A	93786976	G	A	93786976	2	1	104	1	0	0	0	0	0	0	0	1	1536	1045	37	1		1	BTAF1	10	93786976	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1111041	93786976	41747771	3898	70512											
IDE	3416	broad.mit.edu	37	chr10	94215362	94215362	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctggtgcttgtgacaaatTtatgtcattttgacatggga	12	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:94215362T>G	uc001kia.2	-	24	3011	c.2935A>C	c.(2935-2937)AAT>CAT	p.N979H	IDE_uc010qnp.1_Missense_Mutation_p.N424H|IDE_uc001khz.2_Missense_Mutation_p.N424H	NM_004969	NP_004960	P14735	IDE_HUMAN	insulin-degrading enzyme isoform 1 precursor	979					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTGACAAATTTATGTCATTT	0.328													G	94215362	T	G	94215362	3	3	104	1	0	0	0	0	1	0	0	0	7493	1841	64	5	132	5	IDE	10	94215362	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	428386	94215362	41319385	3899	70513											
HHEX	3087	broad.mit.edu	37	chr10	94452231	94452231	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcgagctggagaagaaattCgagacgcagaaatatctctc	10	8	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:94452231C>T	uc001kid.2	+	2	531	c.468C>T	c.(466-468)TTC>TTT	p.F156F		NM_002729	NP_002720	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	156	Homeobox.				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding			ovary(1)	1						AGAAGAAATTCGAGACGCAGA	0.597													T	94452231	C	T	94452231	2	4	104	1	0	0	0	0	0	0	0	1	7091	883	31	1		1	HHEX	10	94452231	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	236869	94452231	41082516	3900	70514											
CYP26C1	340665	broad.mit.edu	37	chr10	94824234	94824234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagagccgggtgatgccctcGacctaatcattcacagtgca	10	13	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:94824234G>A	uc010qns.1	+	4	802	c.802G>A	c.(802-804)GAC>AAC	p.D268N	CYP26C1_uc009xud.2_Intron	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C,	268					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)	1		Colorectal(252;0.122)				TGATGCCCTCGACCTAATCAT	0.602													A	94824234	G	A	94824234	3	1	104	1	0	0	0	0	1	0	0	0	4157	1058	37	1	816	1	CYP26C1	10	94824234	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	372003	94824234	40710513	3901	70515											
CYP26A1	1592	broad.mit.edu	37	chr10	94836943	94836943	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaatatttacagtggagcTggccaggcattgtgactggc	12	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:94836943T>C	uc001kil.2	+	7	1421	c.1376T>C	c.(1375-1377)CTG>CCG	p.L459P	CYP26A1_uc001kik.1_Missense_Mutation_p.L390P|CYP26A1_uc001kim.1_Missense_Mutation_p.L357P	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	459					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				ACAGTGGAGCTGGCCAGGCAT	0.463													C	94836943	T	C	94836943	3	2	104	1	0	0	0	0	1	0	0	0	4155	1580	55	3	1402	3	CYP26A1	10	94836943	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	12709	94836943	40697804	3902	70516											
MYOF	26509	broad.mit.edu	37	chr10	95161176	95161176	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agattaaatcagtacatactCtgggggatgtcctcagctcg	10	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:95161176C>A	uc001kin.2	-	12	1239	c.1116G>T	c.(1114-1116)CAG>CAT	p.Q372H	MYOF_uc001kio.2_Missense_Mutation_p.Q372H|MYOF_uc001kip.3_Missense_Mutation_p.Q372H|MYOF_uc009xuf.2_Missense_Mutation_p.Q354H	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	372	Cytoplasmic (Potential).|C2 3.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						AGTACATACTCTGGGGGATGT	0.423													A	95161176	C	A	95161176	3	1	104	1	0	0	0	0	1	0	0	0	10089	927	32	5	5241	5	MYOF	10	95161176	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	324233	95161176	40373571	3903	70517											
GPR120	338557	broad.mit.edu	37	chr10	95335855	95335855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttttgtaactaggaaatttCgatttgcacactgatttggc	8	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:95335855C>T	uc010qnt.1	+	2	631	c.575C>T	c.(574-576)TCG>TTG	p.S192L	GPR120_uc010qnu.1_Missense_Mutation_p.S192L	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	G protein-coupled receptor 120	192	Extracellular (Potential).				negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding				0		Colorectal(252;0.122)				TAGGAAATTTCGATTTGCACA	0.438													T	95335855	C	T	95335855	3	4	104	1	0	0	0	0	1	0	0	0	6636	893	31	1	581	1	GPR120	10	95335855	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	174679	95335855	40198892	3904	70518											
LGI1	9211	broad.mit.edu	37	chr10	95556817	95556817	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggctctcacatctataagCgagacagttttgcaaataaa	8	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:95556817C>T	uc001kjc.3	+	8	1267	c.931C>T	c.(931-933)CGA>TGA	p.R311*	LGI1_uc010qnv.1_Nonsense_Mutation_p.R263*|LGI1_uc001kjd.3_Intron|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_Intron	NM_005097	NP_005088	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1 precursor	311	EAR 2.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			ovary(2)|central_nervous_system(1)|skin(1)	4		Colorectal(252;0.124)				CATCTATAAGCGAGACAGTTT	0.378													T	95556817	C	T	95556817	4	4	104	1	0	0	0	0	0	1	0	0	8751	760	27	1	961	1	LGI1	10	95556817	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	220962	95556817	39977930	3905	70519											
PLCE1	51196	broad.mit.edu	37	chr10	95791016	95791016	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctggaagcaacttgccaaaGattctctcaatagcgaggga	10	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:95791016G>A	uc001kjk.2	+	2	847	c.213G>A	c.(211-213)AAG>AAA	p.K71K	PLCE1_uc010qnx.1_Silent_p.K71K	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	71					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				ACTTGCCAAAGATTCTCTCAA	0.388													A	95791016	G	A	95791016	2	1	104	1	0	0	0	0	0	0	0	1	12034	933	33	4		4	PLCE1	10	95791016	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	234199	95791016	39743731	3906	70520											
NOC3L	64318	broad.mit.edu	37	chr10	96097537	96097537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaatgctaaatattaccttCgactcaactctggtttgagt	7	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:96097537C>T	uc001kjq.1	-	19	2274	c.2186G>A	c.(2185-2187)CGA>CAA	p.R729Q		NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog	729						nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)				ATATTACCTTCGACTCAACTC	0.418													T	96097537	C	T	96097537	3	4	104	1	0	0	0	0	1	0	0	0	10514	884	31	1	228	1	NOC3L	10	96097537	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	306521	96097537	39437210	3907	70521											
NOC3L	64318	broad.mit.edu	37	chr10	96099593	96099593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttgatgaaggcaagagctCgctgctgagaaacttgcttt	12	7	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:96099593C>T	uc001kjq.1	-	17	1953	c.1865G>A	c.(1864-1866)CGA>CAA	p.R622Q		NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog	622						nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)				GGCAAGAGCTCGCTGCTGAGA	0.418													T	96099593	C	T	96099593	3	4	104	1	0	0	0	0	1	0	0	0	10514	884	31	1	557	1	NOC3L	10	96099593	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2056	96099593	39435154	3908	70522											
CYP2C8	1558	broad.mit.edu	37	chr10	96796963	96796963	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actgcagtagtattgaggttCtttaaatcatcaacagattt	7	6	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:96796963C>A	uc001kkb.2	-	9	1490	c.1395G>T	c.(1393-1395)AAG>AAT	p.K465N	CYP2C8_uc001kkc.2_RNA|CYP2C8_uc010qoa.1_Missense_Mutation_p.K395N|CYP2C8_uc010qob.1_Missense_Mutation_p.K379N|CYP2C8_uc010qoc.1_Missense_Mutation_p.K363N	NM_000770	NP_000761	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C,	465					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding				0		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TATTGAGGTTCTTTAAATCAT	0.418													A	96796963	C	A	96796963	3	1	104	1	0	0	0	0	1	0	0	0	4167	912	32	5	81	5	CYP2C8	10	96796963	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	697370	96796963	38737784	3909	70523											
CYP2C8	1558	broad.mit.edu	37	chr10	96829106	96829106	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacagctctgtctccagagTgaaaagagaagcataaaaga	9	8	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:96829106T>G	uc001kkb.2	-	1	149	c.54A>C	c.(52-54)TCA>TCC	p.S18S	CYP2C8_uc001kkc.2_RNA|CYP2C8_uc010qoa.1_5'UTR|CYP2C8_uc010qob.1_5'UTR|CYP2C8_uc010qoc.1_5'UTR|CYP2C8_uc010qod.1_5'UTR	NM_000770	NP_000761	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C,	18					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding				0		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GTCTCCAGAGTGAAAAGAGAA	0.453													G	96829106	T	G	96829106	2	3	104	1	0	0	0	0	0	0	0	1	4167	1683	59	5		5	CYP2C8	10	96829106	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	32143	96829106	38705641	3910	70524											
ZNF518A	9849	broad.mit.edu	37	chr10	97916956	97916956	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagaacatttatatgcaaaaGaaaaactggaaaaagacaaa	6	4	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:97916956G>T	uc001klp.2	+	6	1734	c.877G>T	c.(877-879)GAA>TAA	p.E293*	ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.2_Nonsense_Mutation_p.E293*|ZNF518A_uc001klr.2_Nonsense_Mutation_p.E293*	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ATATGCAAAAGAAAAACTGGA	0.343													T	97916956	G	T	97916956	4	4	104	1	0	0	0	0	0	1	0	0	17959	943	33	5	879	5	ZNF518A	10	97916956	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1087850	97916956	37617791	3911	70525											
ZNF518A	9849	broad.mit.edu	37	chr10	97918860	97918860	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttaaattcagaacaaaaAaaaactataattgttcagac	3	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:97918860A>C	uc001klp.2	+	6	3638	c.2781A>C	c.(2779-2781)AAA>AAC	p.K927N	ZNF518A_uc001klo.1_Missense_Mutation_p.K397N|ZNF518A_uc001klq.2_Missense_Mutation_p.K927N|ZNF518A_uc001klr.2_Missense_Mutation_p.K927N	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	927					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CAGAACAAAAAAAAACTATAA	0.348													C	97918860	A	C	97918860	3	2	104	1	0	0	0	0	1	0	0	0	17959	11	1	5	2783	5	ZNF518A	10	97918860	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1904	97918860	37615887	3912	70526											
TM9SF3	56889	broad.mit.edu	37	chr10	98321841	98321841	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaacctatttcaagttttTtataggtccaaagatagtaa	5	5	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:98321841T>G	uc001kmm.3	-	4	693	c.476A>C	c.(475-477)AAA>ACA	p.K159T	TM9SF3_uc010qot.1_Missense_Mutation_p.K159T	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	159						integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TTCAAGTTTTTTATAGGTCCA	0.308													G	98321841	T	G	98321841	3	3	104	1	0	0	0	0	1	0	0	0	15976	1841	64	5	1341	5	TM9SF3	10	98321841	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	402981	98321841	37212906	3913	70527											
PIK3AP1	118788	broad.mit.edu	37	chr10	98376434	98376434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgcttctctctctgtcttCgggtgatgctgtctcttagc	9	11	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:98376434C>T	uc001kmq.2	-	13	2104	c.1976G>A	c.(1975-1977)CGA>CAA	p.R659Q	PIK3AP1_uc001kmo.2_Missense_Mutation_p.R258Q|PIK3AP1_uc001kmp.2_Missense_Mutation_p.R481Q	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	659	Potential.					cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCTCTGTCTTCGGGTGATGCT	0.423													T	98376434	C	T	98376434	3	4	104	1	0	0	0	0	1	0	0	0	11908	884	31	1	461	1	PIK3AP1	10	98376434	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	54593	98376434	37158313	3914	70528											
PIK3AP1	118788	broad.mit.edu	37	chr10	98408569	98408569	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggttcttcagtccatacttCgcagcaaaatgcaacagggt	9	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:98408569C>T	uc001kmq.2	-	7	1160	c.1032G>A	c.(1030-1032)GCG>GCA	p.A344A	PIK3AP1_uc001kmp.2_Silent_p.A166A	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	344						cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTCCATACTTCGCAGCAAAAT	0.512													T	98408569	C	T	98408569	2	4	104	1	0	0	0	0	0	0	0	1	11908	871	31	1		1	PIK3AP1	10	98408569	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	32135	98408569	37126178	3915	70529											
LCOR	84458	broad.mit.edu	37	chr10	98715594	98715594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagatgaaattaatgaggtCggaggggccagatgtttctg	14	4	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:98715594C>T	uc001kms.1	+	8	1738	c.1217C>T	c.(1216-1218)TCG>TTG	p.S406L	LCOR_uc001kmr.2_Intron|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Missense_Mutation_p.S406L|LCOR_uc001kmu.1_Missense_Mutation_p.S406L	NM_032440	NP_115816	Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	406						nucleus	DNA binding			ovary(3)	3		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		TTAATGAGGTCGGAGGGGCCA	0.423													T	98715594	C	T	98715594	3	4	104	1	0	0	0	0	1	0	0	0	8689	893	31	1	1227	1	LCOR	10	98715594	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	307025	98715594	36819153	3916	70530											
C10orf12	26148	broad.mit.edu	37	chr10	98743206	98743206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtgaatgaggtagacaacGaaaacacccagcagaaagat	10	8	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:98743206G>A	uc001kmv.2	+	1	2166	c.2059G>A	c.(2059-2061)GAA>AAA	p.E687K		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	687										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GGTAGACAACGAAAACACCCA	0.502													A	98743206	G	A	98743206	3	1	104	1	0	0	0	0	1	0	0	0	1589	1059	37	1	2061	1	C10orf12	10	98743206	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	27612	98743206	36791541	3917	70531											
C10orf12	26148	broad.mit.edu	37	chr10	98744567	98744567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaaccccccaaaaagacGtctttgaaagagaataaagt	7	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:98744567G>A	uc001kmv.2	+	1	3527	c.3420G>A	c.(3418-3420)ACG>ACA	p.T1140T		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	1140										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCAAAAAGACGTCTTTGAAAG	0.498													A	98744567	G	A	98744567	2	1	104	1	0	0	0	0	0	0	0	1	1589	1132	40	1		1	C10orf12	10	98744567	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1361	98744567	36790180	3918	70532											
SLIT1	6585	broad.mit.edu	37	chr10	98764578	98764578	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccattgtcctctgccgtggaGacctgatgggcagtggcact	13	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:98764578G>T	uc001kmw.2	-	33	3834	c.3582C>A	c.(3580-3582)GTC>GTA	p.V1194V		NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	1194	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTGCCGTGGAGACCTGATGGG	0.592													T	98764578	G	T	98764578	2	4	104	1	0	0	0	0	0	0	0	1	14739	929	33	5		5	SLIT1	10	98764578	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	20011	98764578	36770169	3919	70533											
MMS19	64210	broad.mit.edu	37	chr10	99223673	99223673	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtatagctgtctggtggaaAtaccagcaactctcagggtc	12	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:99223673A>C	uc001kns.3	-	19	2079	c.1854T>G	c.(1852-1854)TAT>TAG	p.Y618*	MMS19_uc001knq.2_5'Flank|MMS19_uc009xvs.2_Nonsense_Mutation_p.Y203*|MMS19_uc009xvt.2_Nonsense_Mutation_p.Y362*|MMS19_uc001knr.2_Nonsense_Mutation_p.Y459*|MMS19_uc010qox.1_Nonsense_Mutation_p.Y596*|MMS19_uc001knt.2_Nonsense_Mutation_p.Y618*|MMS19_uc001knu.1_RNA	NM_022362	NP_071757	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog	618					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity				0		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		TCTGGTGGAAATACCAGCAAC	0.517								Direct_reversal_of_damage|NER			OREG0020414	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	99223673	A	C	99223673	4	2	104	1	0	0	0	0	0	1	0	0	9672	108	4	5	1290	5	MMS19	10	99223673	Nonsense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	459095	99223673	36311074	3920	70534											
MMS19	64210	broad.mit.edu	37	chr10	99225597	99225597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagatgctgcagcagcagaGgcagtgtctccttgacgatg	14	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:99225597G>A	uc001kns.3	-	18	1946	c.1721C>T	c.(1720-1722)CCT>CTT	p.P574L	MMS19_uc009xvs.2_Missense_Mutation_p.P159L|MMS19_uc009xvt.2_Missense_Mutation_p.P318L|MMS19_uc001knr.2_Missense_Mutation_p.P415L|MMS19_uc010qox.1_Missense_Mutation_p.P552L|MMS19_uc001knt.2_Missense_Mutation_p.P574L|MMS19_uc001knu.1_RNA	NM_022362	NP_071757	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog	574					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity				0		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		CAGCAGCAGAGGCAGTGTCTC	0.517								Direct_reversal_of_damage|NER					A	99225597	G	A	99225597	3	1	104	1	0	0	0	0	1	0	0	0	9672	1000	35	4	1427	4	MMS19	10	99225597	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1924	99225597	36309150	3921	70535											
CRTAC1	55118	broad.mit.edu	37	chr10	99655723	99655723	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccagcatcccgtctccgtcGaagtcggtcaccacaccccc	7	20	2	0	rs145632263		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:99655723G>A	uc001kou.1	-	10	1592	c.1236C>T	c.(1234-1236)TTC>TTT	p.F412F	CRTAC1_uc001kov.2_Silent_p.F401F|CRTAC1_uc001kot.1_Silent_p.F202F	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	412	FG-GAP 4; atypical.					proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CGTCTCCGTCGAAGTCGGTCA	0.572													A	99655723	G	A	99655723	2	1	104	1	0	0	0	0	0	0	0	1	3896	1049	37	1		1	CRTAC1	10	99655723	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	430126	99655723	35879024	3922	70536											
C10orf28	27291	broad.mit.edu	37	chr10	99991421	99991421	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatttcatactgaagacctTctacgggttttctgcagtta	8	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:99991421T>C	uc001kow.3	+	5	2233	c.1938T>C	c.(1936-1938)CTT>CTC	p.L646L	C10orf28_uc001kox.3_Silent_p.L660L|C10orf28_uc001koy.3_Silent_p.L646L|C10orf28_uc009xvx.2_Silent_p.L646L|C10orf28_uc009xvy.2_Silent_p.L52L|C10orf28_uc001koz.3_RNA	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	646							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		CTGAAGACCTTCTACGGGTTT	0.368													C	99991421	T	C	99991421	2	2	104	1	0	0	0	0	0	0	0	1	1601	1770	62	3		3	C10orf28	10	99991421	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	335698	99991421	35543326	3923	70537											
HPS1	3257	broad.mit.edu	37	chr10	100190928	100190928	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggagtgcacgagcaggaAggcatgcagggcctcctcgc	15	12	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:100190928A>C	uc010qpf.1	-	7	874	c.628T>G	c.(628-630)TTC>GTC	p.F210V	HPS1_uc001kpi.1_Missense_Mutation_p.F210V|HPS1_uc001kpj.1_Missense_Mutation_p.F150V|HPS1_uc001kpk.1_Intron|HPS1_uc009xwb.2_RNA|HPS1_uc010qph.1_Missense_Mutation_p.F210V|HPS1_uc001kpl.2_Missense_Mutation_p.F210V	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1 protein isoform a	210					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			skin(1)	1		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		ACGAGCAGGAAGGCATGCAGG	0.627									Hermansky-Pudlak_syndrome				C	100190928	A	C	100190928	3	2	104	1	0	0	0	0	1	0	0	0	7339	72	3	5	1568	5	HPS1	10	100190928	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	199507	100190928	35343819	3924	70538											
SLC25A28	81894	broad.mit.edu	37	chr10	101373638	101373638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagggcctccaacacattgCgatagcgggcagctgggtca	14	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:101373638C>T	uc001kpx.2	-	2	464	c.335G>A	c.(334-336)CGC>CAC	p.R112H	SLC25A28_uc001kpy.2_5'UTR|SLC25A28_uc009xwk.1_Missense_Mutation_p.R112H	NM_031212	NP_112489	Q96A46	MFRN2_HUMAN	solute carrier family 25, member 28	112	Solcar 1.				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		CAACACATTGCGATAGCGGGC	0.587													T	101373638	C	T	101373638	3	4	104	1	0	0	0	0	1	0	0	0	14491	768	27	1	771	1	SLC25A28	10	101373638	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1182710	101373638	34161109	3925	70539											
DNMBP	23268	broad.mit.edu	37	chr10	101716155	101716155	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagtcagatgaccgaggggaGaagtgggtgcttcagaaata	15	5	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:101716155G>T	uc001kqj.2	-	4	1168	c.1076C>A	c.(1075-1077)TCT>TAT	p.S359Y	NCRNA00093_uc001kqk.1_Intron	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	359					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ACCGAGGGGAGAAGTGGGTGC	0.532													T	101716155	G	T	101716155	3	4	104	1	0	0	0	0	1	0	0	0	4674	942	33	5	3713	5	DNMBP	10	101716155	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	342517	101716155	33818592	3926	70540											
FAM178A	55719	broad.mit.edu	37	chr10	102676415	102676415	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggacagagcagtttgaaagGaaactatcctcaccaaaaga	10	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:102676415G>A	uc001krt.3	+	3	815	c.273G>A	c.(271-273)AGG>AGA	p.R91R	FAM178A_uc001krr.1_Silent_p.R91R|FAM178A_uc001krs.2_Silent_p.R91R|FAM178A_uc001kru.1_Silent_p.R27R	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	91											0						AGTTTGAAAGGAAACTATCCT	0.393													A	102676415	G	A	102676415	2	1	104	1	0	0	0	0	0	0	0	1	5503	1165	41	4		4	FAM178A	10	102676415	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	960260	102676415	32858332	3927	70541											
FAM178A	55719	broad.mit.edu	37	chr10	102698458	102698458	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agatctttgtttcccctggaGaatcttcagccagactttaa	7	10	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:102698458G>T	uc001krt.3	+	11	3161	c.2619G>T	c.(2617-2619)GAG>GAT	p.E873D	FAM178A_uc001krs.2_Missense_Mutation_p.E873D	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	873											0						TTCCCCTGGAGAATCTTCAGC	0.363													T	102698458	G	T	102698458	3	4	104	1	0	0	0	0	1	0	0	0	5503	933	33	5	2661	5	FAM178A	10	102698458	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	22043	102698458	32836289	3928	70542											
BTRC	8945	broad.mit.edu	37	chr10	103294454	103294454	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggtgaaatgctaaacacGttgattcaccattgtgaagc	9	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:103294454G>A	uc001kta.2	+	10	1247	c.1134G>A	c.(1132-1134)ACG>ACA	p.T378T	BTRC_uc001ktb.2_Silent_p.T342T|BTRC_uc001ktc.2_Silent_p.T352T	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing protein	378	WD 2.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TGCTAAACACGTTGATTCACC	0.413													A	103294454	G	A	103294454	2	1	104	1	0	0	0	0	0	0	0	1	1569	1132	40	1		1	BTRC	10	103294454	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	595996	103294454	32240293	3929	70543											
POLL	27343	broad.mit.edu	37	chr10	103340084	103340084	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtgagtgatgagcacgtcGacatcaccacaggtcgcctt	13	11	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:103340084G>A	uc001ktg.1	-	7	2050	c.1284C>T	c.(1282-1284)GTC>GTT	p.V428V	DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_Silent_p.V101V|POLL_uc001kte.1_Silent_p.V120V|POLL_uc001kth.1_Silent_p.V153V|POLL_uc001kti.1_Silent_p.V428V|POLL_uc001ktj.1_Silent_p.V428V|POLL_uc001ktf.2_Silent_p.V336V|POLL_uc001ktk.1_Silent_p.V167V|POLL_uc010qqa.1_Silent_p.V167V|POLL_uc010qqb.1_RNA|POLL_uc001ktm.2_Silent_p.V428V|POLL_uc001ktl.2_Silent_p.V340V|POLL_uc010qqc.1_Silent_p.V120V	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	DNA-directed DNA polymerase lambda	428	Involved in primer binding (By similarity).				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding				0		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		TGAGCACGTCGACATCACCAC	0.582								DNA_polymerases_(catalytic_subunits)					A	103340084	G	A	103340084	2	1	104	1	0	0	0	0	0	0	0	1	12205	1045	37	1		1	POLL	10	103340084	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	45630	103340084	32194663	3930	70544											
HPS6	79803	broad.mit.edu	37	chr10	103826086	103826086	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctgctgttgcttgacttCgggggcactgtgagcctatt	14	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:103826086C>T	uc001kuj.2	+	1	940	c.855C>T	c.(853-855)TTC>TTT	p.F285F		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome-6	285						cytosol|early endosome membrane|endoplasmic reticulum|microsome					0		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TGCTTGACTTCGGGGGCACTG	0.677									Hermansky-Pudlak_syndrome				T	103826086	C	T	103826086	2	4	104	1	0	0	0	0	0	0	0	1	7343	883	31	1		1	HPS6	10	103826086	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	486002	103826086	31708661	3931	70545											
PSD	5662	broad.mit.edu	37	chr10	104164427	104164427	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctgggaaggggggcgcagaGaacatagcggctactacatt	16	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:104164427G>T	uc001kvg.1	-	15	3140	c.2613C>A	c.(2611-2613)TTC>TTA	p.F871L	PSD_uc001kve.1_Missense_Mutation_p.F79L|PSD_uc001kvf.1_Missense_Mutation_p.F240L|PSD_uc001kvh.1_Missense_Mutation_p.F492L|PSD_uc009xxd.1_Missense_Mutation_p.F871L	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	871					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGGGCGCAGAGAACATAGCGG	0.617													T	104164427	G	T	104164427	3	4	104	1	0	0	0	0	1	0	0	0	12646	933	33	5	473	5	PSD	10	104164427	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	338341	104164427	31370320	3932	70546											
SUFU	51684	broad.mit.edu	37	chr10	104268934	104268934	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttttttgcaggttgggtgGcccagaccccttggactatg	13	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:104268934G>T	uc001kvy.1	+	2	337	c.191G>T	c.(190-192)GGC>GTC	p.G64V	SUFU_uc001kvw.1_Missense_Mutation_p.G64V|SUFU_uc001kvx.2_Missense_Mutation_p.G64V	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	suppressor of fused	64					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			central_nervous_system(4)|skin(2)|breast(1)	7		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		AGGTTGGGTGGCCCAGACCCC	0.318			D|F|S		medulloblastoma	medulloblastoma			Medulloblastoma_associated_with_Germline_SUFU_Mutation				T	104268934	G	T	104268934	3	4	104	1	0	0	0	0	1	0	0	0	15367	1203	42	5	197	5	SUFU	10	104268934	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	104507	104268934	31265813	3933	70547											
C10orf26	54838	broad.mit.edu	37	chr10	104569765	104569765	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caacatgaaatcaacctgatCgcttaccgagaagcccacaa	6	13	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:104569765C>T	uc001kwe.3	+	3	506	c.246C>T	c.(244-246)ATC>ATT	p.I82I	C10orf26_uc001kwf.3_Silent_p.I103I|C10orf26_uc009xxg.1_RNA	NM_017787	NP_060257	Q9NX94	OPA1L_HUMAN	hypothetical protein LOC54838 isoform 2	82						integral to membrane				central_nervous_system(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;6.14e-09)|all cancers(201;1.66e-07)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCAACCTGATCGCTTACCGAG	0.567													T	104569765	C	T	104569765	2	4	104	1	0	0	0	0	0	0	0	1	1599	874	31	1		1	C10orf26	10	104569765	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	300831	104569765	30964982	3934	70548											
NT5C2	22978	broad.mit.edu	37	chr10	104852955	104852955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggaatcaccaaaaaagttCgccacccttgccgtttcttt	6	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:104852955C>T	uc001kwo.2	-	15	1286	c.1100G>A	c.(1099-1101)CGA>CAA	p.R367Q	NT5C2_uc010qqp.1_Missense_Mutation_p.R338Q|NT5C2_uc001kwq.2_Missense_Mutation_p.R367Q|NT5C2_uc001kwp.2_Missense_Mutation_p.R214Q	NM_012229	NP_036361	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	367					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding				0		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	CAAAAAAGTTCGCCACCCTTG	0.393													T	104852955	C	T	104852955	3	4	104	1	0	0	0	0	1	0	0	0	10687	884	31	1	605	1	NT5C2	10	104852955	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	283190	104852955	30681792	3935	70549											
NT5C2	22978	broad.mit.edu	37	chr10	104854130	104854130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacctgacgcagtactgtgCcttctccaaaaaagagtggt	9	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:104854130C>T	uc001kwo.2	-	13	1082	c.896G>A	c.(895-897)GGC>GAC	p.G299D	NT5C2_uc010qqp.1_Missense_Mutation_p.G270D|NT5C2_uc001kwq.2_Missense_Mutation_p.G299D|NT5C2_uc001kwp.2_Missense_Mutation_p.G146D	NM_012229	NP_036361	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	299					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding				0		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	CAGTACTGTGCCTTCTCCAAA	0.478													T	104854130	C	T	104854130	3	4	104	1	0	0	0	0	1	0	0	0	10687	739	26	2	817	2	NT5C2	10	104854130	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1175	104854130	30680617	3936	70550											
PDCD11	22984	broad.mit.edu	37	chr10	105172967	105172967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctggacgcccactcacccGactctcttgccagaaccttg	8	18	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:105172967G>A	uc001kwy.1	+	9	1160	c.1073G>A	c.(1072-1074)CGA>CAA	p.R358Q		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	358					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCACTCACCCGACTCTCTTGC	0.572													A	105172967	G	A	105172967	3	1	104	1	0	0	0	0	1	0	0	0	11617	1058	37	1	1103	1	PDCD11	10	105172967	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	318837	105172967	30361780	3937	70551											
PDCD11	22984	broad.mit.edu	37	chr10	105198554	105198554	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtccatccagccacacggTgtgttctttcggtgagtgag	14	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:105198554T>C	uc001kwy.1	+	27	4101	c.4014T>C	c.(4012-4014)GGT>GGC	p.G1338G		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1338	S1 motif 12.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGCCACACGGTGTGTTCTTTC	0.547													C	105198554	T	C	105198554	2	2	104	1	0	0	0	0	0	0	0	1	11617	1683	59	3		3	PDCD11	10	105198554	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	25587	105198554	30336193	3938	70552											
PDCD11	22984	broad.mit.edu	37	chr10	105205159	105205159	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctttgagcgggtcattcaTctgagcttggcccccaagag	11	11	4	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:105205159T>C	uc001kwy.1	+	36	5556	c.5469T>C	c.(5467-5469)CAT>CAC	p.H1823H		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1823	HAT 4.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGGTCATTCATCTGAGCTTGG	0.537													C	105205159	T	C	105205159	2	2	104	1	0	0	0	0	0	0	0	1	11617	1432	50	3		3	PDCD11	10	105205159	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	6605	105205159	30329588	3939	70553											
C10orf79	80217	broad.mit.edu	37	chr10	105900722	105900722	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaagaagaatttggattgTcaaattcaactggaatctca	7	5	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:105900722T>C	uc001kxw.2	-	34	4425	c.4309A>G	c.(4309-4311)ACA>GCA	p.T1437A	C10orf79_uc009xxq.2_Missense_Mutation_p.T716A	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	1437											0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		ATTTGGATTGTCAAATTCAAC	0.318													C	105900722	T	C	105900722	3	2	104	1	0	0	0	0	1	0	0	0	1618	1667	58	3	708	3	C10orf79	10	105900722	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	695563	105900722	29634025	3940	70554											
C10orf79	80217	broad.mit.edu	37	chr10	105921768	105921768	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaactcctcccatcatgTccatcagagctcggagtctt	7	15	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:105921768T>C	uc001kxw.2	-	26	3481	c.3365A>G	c.(3364-3366)GAC>GGC	p.D1122G	C10orf79_uc009xxq.2_Missense_Mutation_p.D430G	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	1122											0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		TCCCATCATGTCCATCAGAGC	0.473													C	105921768	T	C	105921768	3	2	104	1	0	0	0	0	1	0	0	0	1618	1667	58	3	1684	3	C10orf79	10	105921768	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	21046	105921768	29612979	3941	70555											
C10orf79	80217	broad.mit.edu	37	chr10	105944863	105944863	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attctcattgactgaatcccAtgaccctggtgagaatgact	8	10	1	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:105944863A>G	uc001kxw.2	-	16	2168	c.2052T>C	c.(2050-2052)CAT>CAC	p.H684H	C10orf79_uc009xxq.2_5'UTR|C10orf79_uc001kxx.3_Silent_p.H685H	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	684	WD 9.										0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		ACTGAATCCCATGACCCTGGT	0.403													G	105944863	A	G	105944863	2	3	104	1	0	0	0	0	0	0	0	1	1618	214	8	3		3	C10orf79	10	105944863	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	23095	105944863	29589884	3942	70556											
CCDC147	159686	broad.mit.edu	37	chr10	106128305	106128305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaaaaccaacagaaggCgttggagctcaaagtaaaca	10	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:106128305C>T	uc001kyh.2	+	6	1051	c.917C>T	c.(916-918)GCG>GTG	p.A306V		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	306	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CAACAGAAGGCGTTGGAGCTC	0.463													T	106128305	C	T	106128305	3	4	104	1	0	0	0	0	1	0	0	0	2781	768	27	1	939	1	CCDC147	10	106128305	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	183442	106128305	29406442	3943	70557											
CCDC147	159686	broad.mit.edu	37	chr10	106160654	106160654	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggagtatggctaatgttgaaGaactcaggtaatagattata	11	3	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:106160654G>T	uc001kyh.2	+	13	2166	c.2032G>T	c.(2032-2034)GAA>TAA	p.E678*		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	678	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TAATGTTGAAGAACTCAGGTA	0.468													T	106160654	G	T	106160654	4	4	104	1	0	0	0	0	0	1	0	0	2781	943	33	5	2082	5	CCDC147	10	106160654	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	32349	106160654	29374093	3944	70558											
CCDC147	159686	broad.mit.edu	37	chr10	106209871	106209871	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtatgaagtacagagcaaaGaatataaatatgaggtagag	11	2	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:106209871G>T	uc001kyh.2	+	17	2553	c.2419G>T	c.(2419-2421)GAA>TAA	p.E807*		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	807	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACAGAGCAAAGAATATAAATA	0.313													T	106209871	G	T	106209871	4	4	104	1	0	0	0	0	0	1	0	0	2781	943	33	5	2485	5	CCDC147	10	106209871	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	49217	106209871	29324876	3945	70559											
SORCS3	22986	broad.mit.edu	37	chr10	106737154	106737155	+	Missense_Mutation	DNP	CG	CG	TA													gatcagctcagacgaaggggCgacctatcagaagtatcggc					rs139171852		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:106737154_106737155CG>TA	uc001kyi.1	+	4	1084_1085	c.857_858CG>TA	c.(856-858)GCG>GTA	p.A286V		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	286	BNR 2.|Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GACGAAGGGGCGACCTATCAGA	0.47													TA	106737155	CG	TA	106737154	3	4	104	1	0	0	0	0	1	0	0	0	14932	768	27	1	871	1	SORCS3	10	106737154	Missense_Mutation	DNP	CG	TCGA-BR-8680-01A-11D-2394-08	527283	106737154	28797593	3946	70560											
SORCS3	22986	broad.mit.edu	37	chr10	106899200	106899200	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actacgtgtcttatcgaagaGaggcctttgctcagataaag	10	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:106899200G>T	uc001kyi.1	+	8	1485	c.1258G>T	c.(1258-1260)GAG>TAG	p.E420*		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	420	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTATCGAAGAGAGGCCTTTGC	0.507													T	106899200	G	T	106899200	4	4	104	1	0	0	0	0	0	1	0	0	14932	943	33	5	1288	5	SORCS3	10	106899200	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	162046	106899200	28635547	3947	70561											
SMNDC1	10285	broad.mit.edu	37	chr10	112058499	112058499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgtctgaacttgcaagcGtctcagaaggttgagttgac	11	8	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:112058499G>A	uc001kzc.3	-	3	372	c.170C>T	c.(169-171)ACG>ATG	p.T57M	SMNDC1_uc001kzb.2_Translation_Start_Site	NM_005871	NP_005862	O75940	SPF30_HUMAN	survival motor neuron domain containing 1	57					apoptosis|induction of apoptosis|mRNA processing|RNA splicing, via transesterification reactions	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding|RNA binding			skin(1)	1		Breast(234;0.174)		Epithelial(162;6.86e-05)|all cancers(201;0.00149)|BRCA - Breast invasive adenocarcinoma(275;0.119)		ACTTGCAAGCGTCTCAGAAGG	0.368													A	112058499	G	A	112058499	3	1	104	1	0	0	0	0	1	0	0	0	14799	1145	40	1	562	1	SMNDC1	10	112058499	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5159299	112058499	23476248	3948	70562											
TECTB	6975	broad.mit.edu	37	chr10	114053507	114053507	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttccaaagaatgccaagttCtccatcaagaaagaagctcc	6	12	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:114053507C>A	uc001kzr.1	+	5	495	c.495C>A	c.(493-495)TTC>TTA	p.F165L		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	tectorin beta precursor	165	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix					0		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		ATGCCAAGTTCTCCATCAAGA	0.478													A	114053507	C	A	114053507	3	1	104	1	0	0	0	0	1	0	0	0	15745	912	32	5	513	5	TECTB	10	114053507	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1995008	114053507	21481240	3949	70563											
ACSL5	51703	broad.mit.edu	37	chr10	114186031	114186031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagtcatccttagtaggaGtggtggttcctgacacagat	11	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:114186031G>A	uc001kzs.2	+	19	1894	c.1753G>A	c.(1753-1755)GTG>ATG	p.V585M	ACSL5_uc001kzt.2_Missense_Mutation_p.V585M|ACSL5_uc001kzu.2_Missense_Mutation_p.V641M|ACSL5_uc009xxz.2_Missense_Mutation_p.V585M|ACSL5_uc010qrj.1_Missense_Mutation_p.V367M	NM_203379	NP_976313	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	585	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(2)|skin(1)	3		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CTTAGTAGGAGTGGTGGTTCC	0.448													A	114186031	G	A	114186031	3	1	104	1	0	0	0	0	1	0	0	0	180	1029	36	4	1995	4	ACSL5	10	114186031	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	132524	114186031	21348716	3950	70564											
ACSL5	51703	broad.mit.edu	37	chr10	114186112	114186112	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttgaggaactgtgccaaAaccaagtaagtcttgcctag	9	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:114186112A>C	uc001kzs.2	+	19	1975	c.1834A>C	c.(1834-1836)AAC>CAC	p.N612H	ACSL5_uc001kzt.2_Missense_Mutation_p.N612H|ACSL5_uc001kzu.2_Missense_Mutation_p.N668H|ACSL5_uc009xxz.2_Missense_Mutation_p.N612H|ACSL5_uc010qrj.1_Missense_Mutation_p.N394H	NM_203379	NP_976313	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	612	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(2)|skin(1)	3		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ACTGTGCCAAAACCAAGTAAG	0.517													C	114186112	A	C	114186112	3	2	104	1	0	0	0	0	1	0	0	0	180	14	1	5	2076	5	ACSL5	10	114186112	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	81	114186112	21348635	3951	70565											
VTI1A	143187	broad.mit.edu	37	chr10	114224397	114224397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagctacaaacaagaaatggGaaaactcgaaacagattttg	8	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:114224397G>A	uc001kzy.2	+	3	621	c.245G>A	c.(244-246)GGA>GAA	p.G82E	VTI1A_uc001kzz.2_Missense_Mutation_p.G82E	NM_145206	NP_660207	Q96AJ9	VTI1A_HUMAN	SNARE Vti1a-beta protein	82	Potential.				intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity			ovary(1)	1		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		CAAGAAATGGGAAAACTCGAA	0.393													A	114224397	G	A	114224397	3	1	104	1	0	0	0	0	1	0	0	0	17232	1174	41	4	255	4	VTI1A	10	114224397	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	38285	114224397	21310350	3952	70566											
TCF7L2	6934	broad.mit.edu	37	chr10	114920412	114920412	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaagtgtcgggcactgttCgggcttgaccgacagacttt	13	9	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:114920412C>T	uc001lae.3	+	13	1860	c.1353C>T	c.(1351-1353)TTC>TTT	p.F451F	TCF7L2_uc001lac.3_Intron|TCF7L2_uc010qrk.1_Intron|TCF7L2_uc010qrl.1_Silent_p.F428F|TCF7L2_uc010qrm.1_Intron|TCF7L2_uc010qrn.1_Intron|TCF7L2_uc001lad.3_Intron|TCF7L2_uc001lag.3_Intron|TCF7L2_uc001laf.3_Intron|TCF7L2_uc010qro.1_Intron|TCF7L2_uc001lah.2_Missense_Mutation_p.R475W|TCF7L2_uc010qrp.1_Intron|TCF7L2_uc010qrq.1_Intron|TCF7L2_uc010qrr.1_Silent_p.F383F|TCF7L2_uc010qrs.1_Intron|TCF7L2_uc010qrt.1_Silent_p.F339F|TCF7L2_uc010qru.1_Intron|TCF7L2_uc010qrv.1_Intron|TCF7L2_uc010qrw.1_Intron|TCF7L2_uc010qrx.1_Intron	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	468	Promoter-specific activation domain.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GGGCACTGTTCGGGCTTGACC	0.458													T	114920412	C	T	114920412	2	4	104	1	0	0	0	0	0	0	0	1	15695	883	31	1		1	TCF7L2	10	114920412	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	696015	114920412	20614335	3953	70567											
TCF7L2	6934	broad.mit.edu	37	chr10	114925333	114925333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagaaaaaaaaagtgcgttCgctacatacaaggtgaaggc	12	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:114925333C>T	uc001lae.3	+	14	1918	c.1411C>T	c.(1411-1413)CGC>TGC	p.R471C	TCF7L2_uc001lac.3_Missense_Mutation_p.R465C|TCF7L2_uc010qrk.1_Silent_p.F440F|TCF7L2_uc010qrl.1_Missense_Mutation_p.R448C|TCF7L2_uc010qrm.1_Silent_p.F446F|TCF7L2_uc010qrn.1_Silent_p.F389F|TCF7L2_uc001lad.3_Silent_p.F436F|TCF7L2_uc001lag.3_Silent_p.F470F|TCF7L2_uc001laf.3_Missense_Mutation_p.R448C|TCF7L2_uc010qro.1_Silent_p.F423F|TCF7L2_uc001lah.2_3'UTR|TCF7L2_uc010qrp.1_3'UTR|TCF7L2_uc010qrq.1_3'UTR|TCF7L2_uc010qrr.1_Missense_Mutation_p.R403C|TCF7L2_uc010qrs.1_Missense_Mutation_p.R359C|TCF7L2_uc010qrt.1_Missense_Mutation_p.R359C|TCF7L2_uc010qru.1_Silent_p.F362F|TCF7L2_uc010qrv.1_3'UTR|TCF7L2_uc010qrw.1_3'UTR|TCF7L2_uc010qrx.1_3'UTR	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	488	Promoter-specific activation domain.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.R465C(1)		large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AAAGTGCGTTCGCTACATACA	0.532													T	114925333	C	T	114925333	3	4	104	1	0	0	0	0	1	0	0	0	15695	884	31	1	1742	1	TCF7L2	10	114925333	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4921	114925333	20609414	3954	70568											
NRAP	4892	broad.mit.edu	37	chr10	115380377	115380377	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctcacctcgctaatgagttCtcctgccttcttcgcctgct	6	16	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:115380377C>A	uc001laj.2	-	25	3024	c.2860G>T	c.(2860-2862)GAA>TAA	p.E954*	NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Nonsense_Mutation_p.E919*|NRAP_uc001lal.3_Nonsense_Mutation_p.E954*	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	954	Nebulin 24.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTAATGAGTTCTCCTGCCTTC	0.493													A	115380377	C	A	115380377	4	1	104	1	0	0	0	0	0	1	0	0	10638	922	32	5	2404	5	NRAP	10	115380377	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	455044	115380377	20154370	3955	70569											
NHLRC2	374354	broad.mit.edu	37	chr10	115661480	115661480	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagtggaaatgaagagaatCgaaacaatgcctatcctcac	9	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:115661480C>T	uc001lax.1	+	7	1407	c.1195C>T	c.(1195-1197)CGA>TGA	p.R399*	NHLRC2_uc001lay.1_RNA	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	399					cell redox homeostasis					ovary(1)	1				Epithelial(162;0.017)|all cancers(201;0.0187)		TGAAGAGAATCGAAACAATGC	0.448													T	115661480	C	T	115661480	4	4	104	1	0	0	0	0	0	1	0	0	10406	876	31	1	1221	1	NHLRC2	10	115661480	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	281103	115661480	19873267	3956	70570											
NHLRC2	374354	broad.mit.edu	37	chr10	115662299	115662299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaacacccccttggagtaAcatgggacaaaaaaaggaat	8	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:115662299A>G	uc001lax.1	+	8	1653	c.1441A>G	c.(1441-1443)ACA>GCA	p.T481A	NHLRC2_uc001lay.1_RNA	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	481	NHL 5.				cell redox homeostasis					ovary(1)	1				Epithelial(162;0.017)|all cancers(201;0.0187)		CCTTGGAGTAACATGGGACAA	0.343													G	115662299	A	G	115662299	3	3	104	1	0	0	0	0	1	0	0	0	10406	43	2	3	1471	3	NHLRC2	10	115662299	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	819	115662299	19872448	3957	70571											
C10orf118	55088	broad.mit.edu	37	chr10	115887281	115887281	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcctccataaattctatctTttcatttttccgggcatgtg	6	10	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:115887281T>G	uc001lbb.1	-	14	2984	c.2332A>C	c.(2332-2334)AAG>CAG	p.K778Q	C10orf118_uc009xyd.1_Missense_Mutation_p.K376Q|C10orf118_uc001lbc.1_Missense_Mutation_p.K778Q|C10orf118_uc009xye.1_Intron	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	CTCL tumor antigen L14-2	778	Potential.									ovary(2)	2		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		AATTCTATCTTTTCATTTTTC	0.378													G	115887281	T	G	115887281	3	3	104	1	0	0	0	0	1	0	0	0	1587	1850	64	5	376	5	C10orf118	10	115887281	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	224982	115887281	19647466	3958	70572											
TRUB1	142940	broad.mit.edu	37	chr10	116734914	116734914	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaatgtgctagagctgAcccgaaccaaacagggacca	11	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:116734914A>G	uc001lcd.2	+	8	887	c.826A>G	c.(826-828)ACC>GCC	p.T276A	TRUB1_uc010qsl.1_Missense_Mutation_p.T178A	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase homolog 1	276					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding				0		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		GCTAGAGCTGACCCGAACCAA	0.408													G	116734914	A	G	116734914	3	3	104	1	0	0	0	0	1	0	0	0	16599	275	10	3	856	3	TRUB1	10	116734914	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	847633	116734914	18799833	3959	70573											
ATRNL1	26033	broad.mit.edu	37	chr10	117024726	117024726	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatagagatgtcaacagaTttggacactctgcagtagtc	9	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:117024726T>G	uc001lcg.2	+	11	2130	c.1744T>G	c.(1744-1746)TTT>GTT	p.F582V		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	582	Kelch 5.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGTCAACAGATTTGGACACTC	0.289													G	117024726	T	G	117024726	3	3	104	1	0	0	0	0	1	0	0	0	1207	1493	52	5	1786	5	ATRNL1	10	117024726	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	289812	117024726	18510021	3960	70574											
GFRA1	2674	broad.mit.edu	37	chr10	117849401	117849401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggctgccacacggtcacatCggagccattgccaaaggctt	11	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:117849401C>T	uc001lcj.2	-	9	1746	c.1048G>A	c.(1048-1050)GAT>AAT	p.D350N	GFRA1_uc001lci.2_Missense_Mutation_p.D345N|GFRA1_uc009xyr.2_Missense_Mutation_p.D345N	NM_005264	NP_005255	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1 isoform a	350					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			ovary(1)|pancreas(1)	2		Lung NSC(174;0.21)		all cancers(201;0.0337)		ACGGTCACATCGGAGCCATTG	0.522													T	117849401	C	T	117849401	3	4	104	1	0	0	0	0	1	0	0	0	6347	884	31	1	361	1	GFRA1	10	117849401	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	824675	117849401	17685346	3961	70575											
PNLIPRP3	119548	broad.mit.edu	37	chr10	118236226	118236226	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagatgttaacgttggaaAcattacaagtgttcagttca	9	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:118236226A>G	uc001lcl.3	+	11	1336	c.1235A>G	c.(1234-1236)AAC>AGC	p.N412S		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	412	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)		AACGTTGGAAACATTACAAGT	0.358													G	118236226	A	G	118236226	3	3	104	1	0	0	0	0	1	0	0	0	12152	43	2	3	1277	3	PNLIPRP3	10	118236226	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	386825	118236226	17298521	3962	70576											
PNLIP	5406	broad.mit.edu	37	chr10	118306875	118306875	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atggtcaggaattacggaaaGacccctccatatattgcctt	8	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:118306875G>T	uc001lcm.2	+	3	159	c.116G>T	c.(115-117)AGA>ATA	p.R39I		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor	39					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|skin(1)	3				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	ATTACGGAAAGACCCCTCCAT	0.433													T	118306875	G	T	118306875	3	4	104	1	0	0	0	0	1	0	0	0	12149	942	33	5	122	5	PNLIP	10	118306875	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	70649	118306875	17227872	3963	70577											
PNLIPRP1	5407	broad.mit.edu	37	chr10	118354250	118354250	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccaacaccagaaactgttCgaggtggaggaggtgaactg	13	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:118354250C>T	uc001lco.1	+	5	357	c.339C>T	c.(337-339)TTC>TTT	p.F113F	PNLIPRP1_uc001lcp.2_Silent_p.F113F|PNLIPRP1_uc009xys.1_RNA	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	113					lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)		AGAAACTGTTCGAGGTGGAGG	0.577													T	118354250	C	T	118354250	2	4	104	1	0	0	0	0	0	0	0	1	12150	883	31	1		1	PNLIPRP1	10	118354250	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	47375	118354250	17180497	3964	70578											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118383524	118383524	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgggcaggaacccttcagCgacctgtaaaattacttccc	8	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:118383524C>T	uc001lcq.2	+	5	144	c.121C>T	c.(121-123)CGA>TGA	p.R41*	PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA	NM_005396	NP_005387	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2	40					galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			large_intestine(1)	1				all cancers(201;0.015)		AACCCTTCAGCGACCTGTAAA	0.473													T	118383524	C	T	118383524	4	4	104	1	0	0	0	0	0	1	0	0	12151	767	27	1	130	1	PNLIPRP2	10	118383524	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	29274	118383524	17151223	3965	70579											
HSPA12A	259217	broad.mit.edu	37	chr10	118460485	118460485	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcttcatcttgaacttcTccaggtacagccactgcttg	8	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:118460485T>G	uc001lct.2	-	4	515	c.410A>C	c.(409-411)GAG>GCG	p.E137A	HSPA12A_uc001lcu.2_Missense_Mutation_p.E54A	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	137							ATP binding			ovary(1)	1				all cancers(201;0.0158)		CTTGAACTTCTCCAGGTACAG	0.592													G	118460485	T	G	118460485	3	3	104	1	0	0	0	0	1	0	0	0	7404	1551	54	5	1653	5	HSPA12A	10	118460485	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	76961	118460485	17074262	3966	70580											
KIAA1598	57698	broad.mit.edu	37	chr10	118661437	118661437	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaacactggcatggatttGgactctgaggtggctaatat	11	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:118661437G>A	uc009xyw.2	-	16	2010	c.1512C>T	c.(1510-1512)TCC>TCT	p.S504S	KIAA1598_uc001lcz.3_Intron|KIAA1598_uc010qso.1_Silent_p.S444S|KIAA1598_uc010qsp.1_Silent_p.S504S|KIAA1598_uc010qsq.1_Silent_p.S444S|KIAA1598_uc001lcy.3_Silent_p.S474S	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN	shootin1 isoform a	504					axon guidance	axon					0				all cancers(201;0.00494)		GCATGGATTTGGACTCTGAGG	0.418													A	118661437	G	A	118661437	2	1	104	1	0	0	0	0	0	0	0	1	8246	1335	47	4		4	KIAA1598	10	118661437	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	200952	118661437	16873310	3967	70581											
KCNK18	338567	broad.mit.edu	37	chr10	118960684	118960684	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtggtggaagacagaAaacaggatctccaggggcat	13	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:118960684A>C	uc010qsr.1	+	2	238	c.238A>C	c.(238-240)AAA>CAA	p.K80Q		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	80						integral to membrane|plasma membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;0.19)		all cancers(201;0.0211)		GGAAGACAGAAAACAGGATCT	0.522													C	118960684	A	C	118960684	3	2	104	1	0	0	0	0	1	0	0	0	8065	15	1	5	244	5	KCNK18	10	118960684	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	299247	118960684	16574063	3968	70582											
SLC18A2	6571	broad.mit.edu	37	chr10	119014811	119014811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccccttcgggagtgtgCtctatgagtttgtggggaag	15	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:119014811C>T	uc001ldd.1	+	7	755	c.724C>T	c.(724-726)CTC>TTC	p.L242F	SLC18A2_uc009xyy.1_Missense_Mutation_p.L39F	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine),	242	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity				0		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CGGGAGTGTGCTCTATGAGTT	0.602													T	119014811	C	T	119014811	3	4	104	1	0	0	0	0	1	0	0	0	14426	797	28	2	746	2	SLC18A2	10	119014811	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	54127	119014811	16519936	3969	70583											
PDZD8	118987	broad.mit.edu	37	chr10	119043112	119043112	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aactcctgatcaatttcattCtgtagcttatccaacatgaa	4	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:119043112C>T	uc001lde.1	-	5	3331	c.3132G>A	c.(3130-3132)CAG>CAA	p.Q1044Q		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1044	Potential.				intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		CAATTTCATTCTGTAGCTTAT	0.388													T	119043112	C	T	119043112	2	4	104	1	0	0	0	0	0	0	0	1	11705	912	32	4		4	PDZD8	10	119043112	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	28301	119043112	16491635	3970	70584											
PDZD8	118987	broad.mit.edu	37	chr10	119044160	119044160	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acaaacaggatgctctggttCttgtccattttcctagctta	7	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:119044160C>A	uc001lde.1	-	5	2283	c.2084G>T	c.(2083-2085)AGA>ATA	p.R695I		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	695					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		TGCTCTGGTTCTTGTCCATTT	0.433													A	119044160	C	A	119044160	3	1	104	1	0	0	0	0	1	0	0	0	11705	913	32	5	1384	5	PDZD8	10	119044160	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1048	119044160	16490587	3971	70585											
PDZD8	118987	broad.mit.edu	37	chr10	119044314	119044314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgcttaggtgcagctgcatCgtctatggcatccacatttt	9	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:119044314C>T	uc001lde.1	-	5	2129	c.1930G>A	c.(1930-1932)GAT>AAT	p.D644N		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	644					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		GCAGCTGCATCGTCTATGGCA	0.458													T	119044314	C	T	119044314	3	4	104	1	0	0	0	0	1	0	0	0	11705	884	31	1	1538	1	PDZD8	10	119044314	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	154	119044314	16490433	3972	70586											
C10orf46	143384	broad.mit.edu	37	chr10	120460905	120460905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctctgttaagcttggtttCgatgtaaaacttattctgaa	8	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:120460905C>T	uc001lds.1	-	5	1193	c.709G>A	c.(709-711)GAA>AAA	p.E237K	C10orf46_uc010qst.1_RNA	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN	chromosome 10 open reading frame 46	237					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding				0		Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0131)		AGCTTGGTTTCGATGTAAAAC	0.299													T	120460905	C	T	120460905	3	4	104	1	0	0	0	0	1	0	0	0	1604	893	31	1	420	1	C10orf46	10	120460905	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1416591	120460905	15073842	3973	70587											
EIF3A	8661	broad.mit.edu	37	chr10	120825078	120825078	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctaaaaggactctagtagAcattctatggagaacaaagt	10	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:120825078A>G	uc001ldu.2	-	7	1101	c.955T>C	c.(955-957)TCT>CCT	p.S319P	EIF3A_uc010qsu.1_Missense_Mutation_p.S285P	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	319					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)		ACTCTAGTAGACATTCTATGG	0.383													G	120825078	A	G	120825078	3	3	104	1	0	0	0	0	1	0	0	0	5012	275	10	3	3257	3	EIF3A	10	120825078	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	364173	120825078	14709669	3974	70588											
SFXN4	119559	broad.mit.edu	37	chr10	120923675	120923675	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatttgtaggatctaataAttctgtccattgaagaaatc	6	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:120923675A>C	uc001leb.2	-	2	190	c.145T>G	c.(145-147)TTA>GTA	p.L49V	SFXN4_uc001ldz.2_5'UTR|SFXN4_uc001lea.2_RNA	NM_213649	NP_998814	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	49					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			ovary(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		GGATCTAATAATTCTGTCCAT	0.328													C	120923675	A	C	120923675	3	2	104	1	0	0	0	0	1	0	0	0	14197	98	4	5	920	5	SFXN4	10	120923675	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	98597	120923675	14611072	3975	70589											
BAG3	9531	broad.mit.edu	37	chr10	121436099	121436099	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caattcaagtgatccgcaaaGaggtggattctaaacctgtt	9	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:121436099G>T	uc001lem.2	+	4	1339	c.1033G>T	c.(1033-1035)GAG>TAG	p.E345*	BAG3_uc001lel.2_Nonsense_Mutation_p.E344*	NM_004281	NP_004272	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	345					anti-apoptosis|apoptosis|protein folding	cytosol				ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GATCCGCAAAGAGGTGGATTC	0.542													T	121436099	G	T	121436099	4	4	104	1	0	0	0	0	0	1	0	0	1288	943	33	5	1047	5	BAG3	10	121436099	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	512424	121436099	14098648	3976	70590											
INPP5F	22876	broad.mit.edu	37	chr10	121565919	121565919	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaagggatttttcgtgTtaattgtatggactgcctgg	14	5	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:121565919T>C	uc001leo.2	+	12	1533	c.1367T>C	c.(1366-1368)GTT>GCT	p.V456A		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	456	SAC.						phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ATTTTTCGTGTTAATTGTATG	0.378													C	121565919	T	C	121565919	3	2	104	1	0	0	0	0	1	0	0	0	7758	1725	60	3	1413	3	INPP5F	10	121565919	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	129820	121565919	13968828	3977	70591											
FGFR2	2263	broad.mit.edu	37	chr10	123274722	123274722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttggtcgtgttcttcattCggcacaggatgactgttacc	10	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:123274722C>T	uc010qtk.1	-	9	1843	c.1196G>A	c.(1195-1197)CGA>CAA	p.R399Q	FGFR2_uc010qtg.1_Missense_Mutation_p.R287Q|FGFR2_uc010qth.1_Missense_Mutation_p.R284Q|FGFR2_uc010qti.1_Missense_Mutation_p.R310Q|FGFR2_uc010qtj.1_Missense_Mutation_p.R400Q|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Missense_Mutation_p.R284Q|FGFR2_uc001lfl.3_Missense_Mutation_p.R400Q|FGFR2_uc001lfm.2_Missense_Mutation_p.R311Q|FGFR2_uc001lfn.3_RNA|FGFR2_uc001lfg.3_Missense_Mutation_p.R9Q	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	399	Cytoplasmic (Potential).				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GTTCTTCATTCGGCACAGGAT	0.507		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				T	123274722	C	T	123274722	3	4	104	1	0	0	0	0	1	0	0	0	5866	884	31	1	1413	1	FGFR2	10	123274722	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1708803	123274722	12260025	3978	70592											
TACC2	10579	broad.mit.edu	37	chr10	123845456	123845456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggaaagcagcaggctccGgagaaacctggagaagctac	13	11	0	2	rs145035433	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:123845456G>A	uc001lfv.2	+	4	3801	c.3441G>A	c.(3439-3441)CCG>CCA	p.P1147P	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.P1147P|TACC2_uc010qtv.1_Silent_p.P1147P	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1147						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGCAGGCTCCGGAGAAACCTG	0.592													A	123845456	G	A	123845456	2	1	104	1	0	0	0	0	0	0	0	1	15499	1103	39	1		1	TACC2	10	123845456	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	570734	123845456	11689291	3979	70593											
TACC2	10579	broad.mit.edu	37	chr10	123997519	123997519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaatggaaagataaatAtgaagaaagcaggcgggaag	13	4	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:123997519A>G	uc001lfv.2	+	18	8675	c.8315A>G	c.(8314-8316)TAT>TGT	p.Y2772C	TACC2_uc001lfw.2_Missense_Mutation_p.Y918C|TACC2_uc009xzx.2_Missense_Mutation_p.Y2650C|TACC2_uc010qtv.1_Missense_Mutation_p.Y2699C|TACC2_uc001lfx.2_Missense_Mutation_p.Y399C|TACC2_uc001lfy.2_Missense_Mutation_p.Y395C|TACC2_uc001lfz.2_Missense_Mutation_p.Y850C|TACC2_uc001lga.2_Missense_Mutation_p.Y820C|TACC2_uc009xzy.2_Missense_Mutation_p.Y832C|TACC2_uc001lgb.2_Missense_Mutation_p.Y730C	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2772	Potential.					microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAAGATAAATATGAAGAAAGC	0.458													G	123997519	A	G	123997519	3	3	104	1	0	0	0	0	1	0	0	0	15499	449	16	3	8453	3	TACC2	10	123997519	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	152063	123997519	11537228	3980	70594											
TACC2	10579	broad.mit.edu	37	chr10	124009084	124009084	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgctgagattgctcaggttCgaggcaaggcccagcaggag	15	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:124009084C>T	uc001lfv.2	+	22	9046	c.8686C>T	c.(8686-8688)CGA>TGA	p.R2896*	TACC2_uc001lfw.2_Nonsense_Mutation_p.R1042*|TACC2_uc009xzx.2_Nonsense_Mutation_p.R2774*|TACC2_uc010qtv.1_Nonsense_Mutation_p.R2823*|TACC2_uc001lfx.2_Nonsense_Mutation_p.R523*|TACC2_uc001lfy.2_Nonsense_Mutation_p.R519*|TACC2_uc001lfz.2_Nonsense_Mutation_p.R974*|TACC2_uc001lga.2_Nonsense_Mutation_p.R944*|TACC2_uc009xzy.2_Nonsense_Mutation_p.R956*|TACC2_uc001lgb.2_Nonsense_Mutation_p.R854*	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2896	Potential.			R -> Q (in Ref. 3; AAO62629/AAO62630).		microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGCTCAGGTTCGAGGCAAGGC	0.597													T	124009084	C	T	124009084	4	4	104	1	0	0	0	0	0	1	0	0	15499	876	31	1	8840	1	TACC2	10	124009084	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	11565	124009084	11525663	3981	70595											
BTBD16	118663	broad.mit.edu	37	chr10	124043396	124043396	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcacaaatccagaagtttttCtttgagaatttcaagaacaa	5	7	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:124043396C>A	uc001lgc.1	+	4	449	c.198C>A	c.(196-198)TTC>TTA	p.F66L	BTBD16_uc001lgd.1_Missense_Mutation_p.F65L	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	66										skin(1)	1		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AGAAGTTTTTCTTTGAGAATT	0.373													A	124043396	C	A	124043396	3	1	104	1	0	0	0	0	1	0	0	0	1541	912	32	5	208	5	BTBD16	10	124043396	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	34312	124043396	11491351	3982	70596											
HTRA1	5654	broad.mit.edu	37	chr10	124271569	124271569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgaagtaattcctgataCcccagcagaagcgtgagttg	10	8	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:124271569C>T	uc001lgj.2	+	8	1390	c.1262C>T	c.(1261-1263)ACC>ATC	p.T421I		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1 precursor	421	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ATTCCTGATACCCCAGCAGAA	0.493													T	124271569	C	T	124271569	3	4	104	1	0	0	0	0	1	0	0	0	7453	507	18	4	1292	4	HTRA1	10	124271569	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	228173	124271569	11263178	3983	70597											
CUZD1	50624	broad.mit.edu	37	chr10	124594392	124594392	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtatagtcttttcaaaTgaattggattcaaaaagagc	7	5	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:124594392T>C	uc001lgq.2	-	7	1544	c.1212A>G	c.(1210-1212)TCA>TCG	p.S404S	CUZD1_uc001lgp.2_Silent_p.S123S|CUZD1_uc009yad.2_Silent_p.S123S|CUZD1_uc009yaf.2_Silent_p.S38S|CUZD1_uc001lgr.2_Silent_p.S123S|CUZD1_uc010qty.1_Silent_p.S123S|CUZD1_uc009yae.2_Silent_p.S123S|CUZD1_uc001lgs.2_Silent_p.S404S|CUZD1_uc010qtz.1_Silent_p.S404S	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1 precursor	404	Extracellular (Potential).|ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				ovary(1)|skin(1)	2		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TCTTTTCAAATGAATTGGATT	0.348													C	124594392	T	C	124594392	2	2	104	1	0	0	0	0	0	0	0	1	4066	1451	51	3		3	CUZD1	10	124594392	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	322823	124594392	10940355	3984	70598											
C10orf88	80007	broad.mit.edu	37	chr10	124692137	124692137	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagttccatatttttagaaaGaatcttttccaagtaggagc	7	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:124692137G>T	uc001lgw.2	-	6	1369	c.1144C>A	c.(1144-1146)CTT>ATT	p.L382I	C10orf88_uc001lgx.2_Missense_Mutation_p.L284I	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	hypothetical protein LOC80007	382											0		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TTTTTAGAAAGAATCTTTTCC	0.303													T	124692137	G	T	124692137	3	4	104	1	0	0	0	0	1	0	0	0	1622	942	33	5	197	5	C10orf88	10	124692137	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	97745	124692137	10842610	3985	70599											
ACADSB	36	broad.mit.edu	37	chr10	124812651	124812651	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accaaagattaccctgtggaGaaatacttccgagatgcaaa	8	9	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:124812651G>T	uc001lhb.2	+	10	1320	c.1203G>T	c.(1201-1203)GAG>GAT	p.E401D	ACADSB_uc010qub.1_Missense_Mutation_p.E299D	NM_001609	NP_001600	P45954	ACDSB_HUMAN	acyl-Coenzyme A dehydrogenase, short/branched	401					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	ACCCTGTGGAGAAATACTTCC	0.363													T	124812651	G	T	124812651	3	4	104	1	0	0	0	0	1	0	0	0	115	933	33	5	1241	5	ACADSB	10	124812651	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	120514	124812651	10722096	3986	70600											
C10orf137	26098	broad.mit.edu	37	chr10	127422070	127422070	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcacagaatattttatcatTtttgaaatctaattgtacca	4	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:127422070T>G	uc001liq.1	+	10	1519	c.1226T>G	c.(1225-1227)TTT>TGT	p.F409C	C10orf137_uc001lin.2_Missense_Mutation_p.F375C|C10orf137_uc001lio.1_Missense_Mutation_p.F375C|C10orf137_uc001lip.1_Missense_Mutation_p.F113C|C10orf137_uc001lir.2_5'Flank	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATTTTATCATTTTTGAAATCT	0.284													G	127422070	T	G	127422070	3	3	104	1	0	0	0	0	1	0	0	0	1594	1841	64	5	1158	5	C10orf137	10	127422070	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2609419	127422070	8112677	3987	70601											
C10orf137	26098	broad.mit.edu	37	chr10	127431743	127431743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgacttgaaaagccaaaatCcagaacactatgtacaagta	7	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:127431743C>T	uc001liq.1	+	18	2781	c.2488C>T	c.(2488-2490)CCA>TCA	p.P830S	C10orf137_uc001lin.2_Missense_Mutation_p.P796S|C10orf137_uc001lio.1_Missense_Mutation_p.P796S|C10orf137_uc001lip.1_Missense_Mutation_p.P534S|C10orf137_uc001lis.1_Missense_Mutation_p.P156S	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	830					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAGCCAAAATCCAGAACACTA	0.353													T	127431743	C	T	127431743	3	4	104	1	0	0	0	0	1	0	0	0	1594	855	30	4	2452	4	C10orf137	10	127431743	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	9673	127431743	8103004	3988	70602											
MMP21	118856	broad.mit.edu	37	chr10	127459031	127459031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catagcgtgtcctattgtttCgattttcataaagccagtac	7	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:127459031C>T	uc001liu.2	-	5	1109	c.1109G>A	c.(1108-1110)CGA>CAA	p.R370Q		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	matrix metalloproteinase 21 preproprotein	370	Hemopexin-like 1.				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CCTATTGTTTCGATTTTCATA	0.448													T	127459031	C	T	127459031	3	4	104	1	0	0	0	0	1	0	0	0	9660	884	31	1	612	1	MMP21	10	127459031	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	27288	127459031	8075716	3989	70603											
MKI67	4288	broad.mit.edu	37	chr10	129899683	129899683	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccctttctgattctgcatgaGaaccttcgcactcttctgcc	6	15	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:129899683G>A	uc001lke.2	-	14	9739	c.9544C>T	c.(9544-9546)CTC>TTC	p.L3182F	MKI67_uc001lkf.2_Missense_Mutation_p.L2822F	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	3182					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCTGCATGAGAACCTTCGCA	0.502													A	129899683	G	A	129899683	3	1	104	1	0	0	0	0	1	0	0	0	9598	942	33	4	234	4	MKI67	10	129899683	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2440652	129899683	5635064	3990	70604											
MKI67	4288	broad.mit.edu	37	chr10	129901203	129901203	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtctcccacgggttctacTttaggggcccgaagaactct	10	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:129901203T>G	uc001lke.2	-	13	9096	c.8901A>C	c.(8899-8901)AAA>AAC	p.K2967N	MKI67_uc001lkf.2_Missense_Mutation_p.K2607N|MKI67_uc009yav.1_Missense_Mutation_p.K2542N|MKI67_uc009yaw.1_Missense_Mutation_p.K2117N	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2967					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CGGGTTCTACTTTAGGGGCCC	0.502													G	129901203	T	G	129901203	3	3	104	1	0	0	0	0	1	0	0	0	9598	1606	56	5	881	5	MKI67	10	129901203	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1520	129901203	5633544	3991	70605											
MKI67	4288	broad.mit.edu	37	chr10	129904177	129904177	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgcaggatacttctgtgAttttgtcatcggtcattgat	9	6	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:129904177A>C	uc001lke.2	-	13	6122	c.5927T>G	c.(5926-5928)ATC>AGC	p.I1976S	MKI67_uc001lkf.2_Missense_Mutation_p.I1616S|MKI67_uc009yav.1_Missense_Mutation_p.I1551S|MKI67_uc009yaw.1_Missense_Mutation_p.I1126S	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1976	16 X 122 AA approximate repeats.|9.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TACTTCTGTGATTTTGTCATC	0.468													C	129904177	A	C	129904177	3	2	104	1	0	0	0	0	1	0	0	0	9598	333	12	5	3855	5	MKI67	10	129904177	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2974	129904177	5630570	3992	70606											
MKI67	4288	broad.mit.edu	37	chr10	129905488	129905488	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttactgctggtttgggtgtgTgcatggctttgcctgctgat	14	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:129905488T>C	uc001lke.2	-	13	4811	c.4616A>G	c.(4615-4617)CAC>CGC	p.H1539R	MKI67_uc001lkf.2_Missense_Mutation_p.H1179R|MKI67_uc009yav.1_Missense_Mutation_p.H1114R|MKI67_uc009yaw.1_Missense_Mutation_p.H689R	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1539	5.|16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTGGGTGTGTGCATGGCTTT	0.483													C	129905488	T	C	129905488	3	2	104	1	0	0	0	0	1	0	0	0	9598	1696	59	3	5166	3	MKI67	10	129905488	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1311	129905488	5629259	3993	70607											
MKI67	4288	broad.mit.edu	37	chr10	129907415	129907415	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactcaacaatttctgtatTtgtttcttcactcttacttt	3	10	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:129907415T>C	uc001lke.2	-	13	2884	c.2689A>G	c.(2689-2691)AAT>GAT	p.N897D	MKI67_uc001lkf.2_Missense_Mutation_p.N537D|MKI67_uc009yav.1_Missense_Mutation_p.N472D|MKI67_uc009yaw.1_Missense_Mutation_p.N47D	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	897					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATTTCTGTATTTGTTTCTTCA	0.398													C	129907415	T	C	129907415	3	2	104	1	0	0	0	0	1	0	0	0	9598	1841	64	3	7093	3	MKI67	10	129907415	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1927	129907415	5627332	3994	70608											
MGMT	4255	broad.mit.edu	37	chr10	131557541	131557541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgatttcttaccagcaatTagcagccctggcaggcaacc	9	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:131557541T>C	uc001lkh.2	+	4	469	c.443T>C	c.(442-444)TTA>TCA	p.L148S		NM_002412	NP_002403	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	117										ovary(1)|breast(1)	2		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		TACCAGCAATTAGCAGCCCTG	0.527								Direct_reversal_of_damage					C	131557541	T	C	131557541	3	2	104	1	0	0	0	0	1	0	0	0	9557	1764	61	3	457	3	MGMT	10	131557541	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1650126	131557541	3977206	3995	70609											
EBF3	253738	broad.mit.edu	37	chr10	131760461	131760461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtcattgaatctatgaggcGaacatacagatcttgctctg	10	8	4	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:131760461G>A	uc001lki.1	-	4	444	c.385C>T	c.(385-387)CGC>TGC	p.R129C	EBF3_uc010qur.1_3'UTR	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	129					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TCTATGAGGCGAACATACAGA	0.502													A	131760461	G	A	131760461	3	1	104	1	0	0	0	0	1	0	0	0	4882	1058	37	1	1322	1	EBF3	10	131760461	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	202920	131760461	3774286	3996	70610											
GLRX3	10539	broad.mit.edu	37	chr10	131943557	131943557	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttatggcagagttagctaaaGaactccctcaagtttcattt	7	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:131943557G>T	uc001lkm.1	+	2	197	c.175G>T	c.(175-177)GAA>TAA	p.E59*	GLRX3_uc001lkn.1_Nonsense_Mutation_p.E59*|GLRX3_uc001lko.2_RNA	NM_006541	NP_006532	O76003	GLRX3_HUMAN	glutaredoxin 3	59	Thioredoxin.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity				0		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		GTTAGCTAAAGAACTCCCTCA	0.358													T	131943557	G	T	131943557	4	4	104	1	0	0	0	0	0	1	0	0	6461	943	33	5	181	5	GLRX3	10	131943557	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	183096	131943557	3591190	3997	70611											
TCERG1L	256536	broad.mit.edu	37	chr10	132965127	132965127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcaggagggcgggccactCggccccgctctgtccttgta	16	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:132965127C>T	uc001lkp.2	-	5	964	c.878G>A	c.(877-879)CGA>CAA	p.R293Q	TCERG1L_uc009yax.1_RNA	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	293										large_intestine(2)|ovary(2)	4		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GCGGGCCACTCGGCCCCGCTC	0.512													T	132965127	C	T	132965127	3	4	104	1	0	0	0	0	1	0	0	0	15683	884	31	1	914	1	TCERG1L	10	132965127	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1021570	132965127	2569620	3998	70612											
PPP2R2D	55844	broad.mit.edu	37	chr10	133758887	133758887	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgcaccagtgcaacgtgttCgtctacagcagtagcaaagg	11	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:133758887C>T	uc001lks.2	+	5	888	c.645C>T	c.(643-645)TTC>TTT	p.F215F	PPP2R2D_uc001lkr.2_Silent_p.F21F|PPP2R2D_uc001lkt.2_Silent_p.F21F|PPP2R2D_uc009yay.2_Silent_p.F83F	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B,	248	WD 4.				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			skin(1)	1		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GCAACGTGTTCGTCTACAGCA	0.542													T	133758887	C	T	133758887	2	4	104	1	0	0	0	0	0	0	0	1	12387	883	31	1		1	PPP2R2D	10	133758887	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	793760	133758887	1775860	3999	70613											
BNIP3	664	broad.mit.edu	37	chr10	133784192	133784192	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagagatggaaggaaaacTttcagaaattctgcagagaa	11	5	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:133784192T>G	uc001lkv.1	-	5	615	c.489A>C	c.(487-489)AAA>AAC	p.K163N	BNIP3_uc001lku.1_5'Flank|BNIP3_uc010qut.1_Missense_Mutation_p.K163N	NM_004052	NP_004043	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kD-interacting protein 3	163					cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity			lung(1)|skin(1)	2		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GAAGGAAAACTTTCAGAAATT	0.522													G	133784192	T	G	133784192	3	3	104	1	0	0	0	0	1	0	0	0	1478	1606	56	5	103	5	BNIP3	10	133784192	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	25305	133784192	1750555	4000	70614											
DPYSL4	10570	broad.mit.edu	37	chr10	134016247	134016247	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggaggacgggaagatgtTtgtcaccccgggggcgggcc	19	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:134016247T>G	uc009ybb.2	+	12	1533	c.1379T>G	c.(1378-1380)TTT>TGT	p.F460C		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	460					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGGAAGATGTTTGTCACCCCG	0.617													G	134016247	T	G	134016247	3	3	104	1	0	0	0	0	1	0	0	0	4749	1841	64	5	1425	5	DPYSL4	10	134016247	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	232055	134016247	1518500	4001	70615											
LRRC27	80313	broad.mit.edu	37	chr10	134161693	134161693	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggactcctcagagaactgGcccagcgaggaggagatcag	15	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:134161693G>T	uc010quw.1	+	6	954	c.759G>T	c.(757-759)TGG>TGT	p.W253C	LRRC27_uc001llf.2_Missense_Mutation_p.W253C|LRRC27_uc010quv.1_Missense_Mutation_p.W253C|LRRC27_uc001llg.2_RNA|LRRC27_uc001lli.2_Missense_Mutation_p.W253C|LRRC27_uc001llj.2_Missense_Mutation_p.W191C|LRRC27_uc001llk.3_Missense_Mutation_p.W126C	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27 isoform a	253										ovary(1)	1		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CAGAGAACTGGCCCAGCGAGG	0.557													T	134161693	G	T	134161693	3	4	104	1	0	0	0	0	1	0	0	0	8981	1212	42	5	777	5	LRRC27	10	134161693	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	145446	134161693	1373054	4002	70616											
KNDC1	85442	broad.mit.edu	37	chr10	135009295	135009295	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggccaggcgcagtgccccGgagcggccgtccgcggctga	17	15	0	1	rs148476238	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:135009295G>A	uc001llz.1	+	10	1705	c.1704G>A	c.(1702-1704)CCG>CCA	p.P568P	KNDC1_uc001lma.1_Silent_p.P503P|KNDC1_uc001lmb.1_5'Flank	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	568	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCAGTGCCCCGGAGCGGCCGT	0.687													A	135009295	G	A	135009295	2	1	104	1	0	0	0	0	0	0	0	1	8426	1103	39	1		1	KNDC1	10	135009295	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	847602	135009295	525452	4003	70617											
KNDC1	85442	broad.mit.edu	37	chr10	135015105	135015105	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcactgtcacggggaaacttCgaggtggggtttcggcctca	15	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:135015105C>T	uc001llz.1	+	17	3091	c.3090C>T	c.(3088-3090)TTC>TTT	p.F1030F	KNDC1_uc001lma.1_Silent_p.F965F|KNDC1_uc001lmb.1_Silent_p.F442F	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1030					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGGGAAACTTCGAGGTGGGGT	0.657													T	135015105	C	T	135015105	2	4	104	1	0	0	0	0	0	0	0	1	8426	883	31	1		1	KNDC1	10	135015105	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5810	135015105	519642	4004	70618											
CYP2E1	1571	broad.mit.edu	37	chr10	135347293	135347293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagagcgcttgtacacaatgGacggtatcaccgtgactgtg	12	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr10:135347293G>A	uc001lnj.1	+	6	892	c.859G>A	c.(859-861)GAC>AAC	p.D287N	CYP2E1_uc001lnk.1_Missense_Mutation_p.D150N|CYP2E1_uc009ybl.1_Missense_Mutation_p.D88N|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_Missense_Mutation_p.D88N	NM_000773	NP_000764	P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E,	287					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			central_nervous_system(3)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GTACACAATGGACGGTATCAC	0.542									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				A	135347293	G	A	135347293	3	1	104	1	0	0	0	0	1	0	0	0	4170	1174	41	4	881	4	CYP2E1	10	135347293	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	332188	135347293	187454	4005	70619											
SCGB1C1	147199	broad.mit.edu	37	chr11	193746	193746	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaggacaacgatgagtttttCatggacttcctgcaaacact	9	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:193746C>A	uc001loa.1	+	2	110	c.90C>A	c.(88-90)TTC>TTA	p.F30L		NM_145651	NP_663626	Q8TD33	SG1C1_HUMAN	secretoglobin, family 1C, member 1 precursor	30						extracellular region	binding			skin(1)	1		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATGAGTTTTTCATGGACTTCC	0.557													A	193746	C	A	193746	3	1	104	1	0	0	0	0	1	0	0	0	13895	825	29	5	96	5	SCGB1C1	11	193746	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08		193746	134812770	4006	70620											
ATHL1	80162	broad.mit.edu	37	chr11	294327	294327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggggatctccagagtgagCgtctccggcatcttctacca	11	13	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:294327C>T	uc010qvu.1	+	13	1984	c.1869C>T	c.(1867-1869)AGC>AGT	p.S623S	ATHL1_uc001lor.3_Silent_p.S375S|ATHL1_uc001lou.3_Silent_p.S198S|ATHL1_uc001lov.3_Silent_p.S84S	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1	623					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(1)|skin(1)	3		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCAGAGTGAGCGTCTCCGGCA	0.617													T	294327	C	T	294327	2	4	104	1	0	0	0	0	0	0	0	1	1104	767	27	1		1	ATHL1	11	294327	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	100581	294327	134712189	4007	70621											
B4GALNT4	338707	broad.mit.edu	37	chr11	380147	380147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggtaccagtacctgagacGaaccgggaacttcgagcgct	12	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:380147G>A	uc001lpb.2	+	17	2669	c.2660G>A	c.(2659-2661)CGA>CAA	p.R887Q		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	887	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACCTGAGACGAACCGGGAAC	0.687													A	380147	G	A	380147	3	1	104	1	0	0	0	0	1	0	0	0	1269	1058	37	1	2726	1	B4GALNT4	11	380147	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	85820	380147	134626369	4008	70622											
LRRC56	115399	broad.mit.edu	37	chr11	554059	554059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccccgcggtggtcgacagAcctgcagtccagggggcgtc	15	15	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:554059A>G	uc010qvz.1	+	14	1917	c.1412A>G	c.(1411-1413)GAC>GGC	p.D471G		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	471										skin(1)	1		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGTCGACAGACCTGCAGTCC	0.692													G	554059	A	G	554059	3	3	104	1	0	0	0	0	1	0	0	0	9012	275	10	3	1454	3	LRRC56	11	554059	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	173912	554059	134452457	4009	70623											
MUC6	4588	broad.mit.edu	37	chr11	1016585	1016585	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaatgagctgtgggtttgGctggtcccactggtggtcac	15	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:1016585G>T	uc001lsw.2	-	31	6267	c.6216C>A	c.(6214-6216)AGC>AGA	p.S2072R		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	2072	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGGGTTTGGCTGGTCCCAC	0.572													T	1016585	G	T	1016585	3	4	104	1	0	0	0	0	1	0	0	0	9980	1194	42	5	1115	5	MUC6	11	1016585	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	462526	1016585	133989931	4010	70624											
MUC6	4588	broad.mit.edu	37	chr11	1026380	1026380	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccagggtaggagacccccgaGaactcacatgggcactcctc	11	15	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:1026380G>T	uc001lsw.2	-	20	2544	c.2493C>A	c.(2491-2493)TTC>TTA	p.F831L		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	831					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGACCCCCGAGAACTCACATG	0.647													T	1026380	G	T	1026380	3	4	104	1	0	0	0	0	1	0	0	0	9980	933	33	5	4882	5	MUC6	11	1026380	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	9795	1026380	133980136	4011	70625											
MUC6	4588	broad.mit.edu	37	chr11	1027310	1027310	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggactgctcggccaggatgAacttgtaaccctccagtatg	11	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:1027310A>G	uc001lsw.2	-	17	2240	c.2189T>C	c.(2188-2190)TTC>TCC	p.F730S		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	730					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCCAGGATGAACTTGTAACC	0.657													G	1027310	A	G	1027310	3	3	104	1	0	0	0	0	1	0	0	0	9980	246	9	3	5198	3	MUC6	11	1027310	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	930	1027310	133979206	4012	70626											
MUC6	4588	broad.mit.edu	37	chr11	1027763	1027763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtacgtagtcgcccagggCggcacagatgtggggaaagg	18	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:1027763C>T	uc001lsw.2	-	16	1954	c.1903G>A	c.(1903-1905)GCC>ACC	p.A635T		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	635					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCGCCCAGGGCGGCACAGATG	0.652													T	1027763	C	T	1027763	3	4	104	1	0	0	0	0	1	0	0	0	9980	768	27	1	5488	1	MUC6	11	1027763	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	453	1027763	133978753	4013	70627											
MUC5B	727897	broad.mit.edu	37	chr11	1268507	1268507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccccagcagtccccacaCggtgcgcacagcctggactt	10	19	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:1268507C>T	uc009ycr.1	+	50	12107	c.11981C>T	c.(11980-11982)ACG>ATG	p.T3994M	MUC5B_uc001ltb.2_Missense_Mutation_p.T3469M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	3466	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGTCCCCACACGGTGCGCACA	0.677													T	1268507	C	T	1268507	3	4	104	1	0	0	0	0	1	0	0	0	9979	536	19	1	10528	1	MUC5B	11	1268507	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	240744	1268507	133738009	4014	70628											
MUC5B	727897	broad.mit.edu	37	chr11	1271226	1271226	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgaccacgaaggccaccacGacaagggccaccagttccac	9	17	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:1271226G>A	uc009ycr.1	+	51	14661	c.14535G>A	c.(14533-14535)ACG>ACA	p.T4845T	MUC5B_uc001ltb.2_Silent_p.T4375T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4372	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGGCCACCACGACAAGGGCCA	0.632													A	1271226	G	A	1271226	2	1	104	1	0	0	0	0	0	0	0	1	9979	1045	37	1		1	MUC5B	11	1271226	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2719	1271226	133735290	4015	70629											
TOLLIP	54472	broad.mit.edu	37	chr11	1311585	1311585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacaccgcgtagcccaggcGcagtcggcagtaggggtcca	15	13	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:1311585G>A	uc001lte.2	-	3	349	c.238C>T	c.(238-240)CGC>TGC	p.R80C	TOLLIP_uc001ltd.2_Missense_Mutation_p.R11C|TOLLIP_uc009ycu.2_Intron|TOLLIP_uc001ltf.2_Missense_Mutation_p.R30C	NM_019009	NP_061882	Q9H0E2	TOLIP_HUMAN	toll interacting protein	80	C2.				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding				0		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		TAGCCCAGGCGCAGTCGGCAG	0.597													A	1311585	G	A	1311585	3	1	104	1	0	0	0	0	1	0	0	0	16347	1087	38	1	602	1	TOLLIP	11	1311585	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	40359	1311585	133694931	4016	70630											
DUSP8	1850	broad.mit.edu	37	chr11	1578801	1578801	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacgggcgcctgtccttcacGaacctgcgggggaggaggct	17	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:1578801G>A	uc001lts.2	-	7	953	c.825C>T	c.(823-825)TTC>TTT	p.F275F		NM_004420	NP_004411	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	275	Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		TGTCCTTCACGAACCTGCGGG	0.711													A	1578801	G	A	1578801	2	1	104	1	0	0	0	0	0	0	0	1	4831	1049	37	1		1	DUSP8	11	1578801	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	267216	1578801	133427715	4017	70631											
KCNQ1	3784	broad.mit.edu	37	chr11	2609948	2609948	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcttgttttttttaggtaaaGaaaaaaaagttcaagctgga	8	3	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:2609948G>T	uc001lwn.2	+	10	1365	c.1257G>T	c.(1255-1257)AAG>AAT	p.K419N	KCNQ1_uc009ydp.1_Missense_Mutation_p.K203N|KCNQ1_uc001lwo.2_Missense_Mutation_p.K292N	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like	419	Cytoplasmic (Potential).				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			ovary(1)	1		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TTTAGGTAAAGAAAAAAAAGT	0.562													T	2609948	G	T	2609948	3	4	104	1	0	0	0	0	1	0	0	0	8082	933	33	5	1304	5	KCNQ1	11	2609948	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1031147	2609948	132396568	4018	70632											
CARS	833	broad.mit.edu	37	chr11	3039178	3039178	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatatctttcacatttaagaAaaactcctgaagttagaaaa	5	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:3039178A>G	uc001lxh.2	-	14	1461	c.1387T>C	c.(1387-1389)TTC>CTC	p.F463L	CARS_uc001lxe.2_Missense_Mutation_p.F453L|CARS_uc001lxf.2_Missense_Mutation_p.F546L|CARS_uc001lxg.2_Missense_Mutation_p.F463L|CARS_uc010qxo.1_Missense_Mutation_p.F546L|CARS_uc010qxp.1_Missense_Mutation_p.F476L	NM_001751	NP_001742	P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase isoform b	463					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding		CARS/ALK(5)	soft_tissue(5)|ovary(2)	7		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ACATTTAAGAAAAACTCCTGA	0.373			T	ALK	ALCL								G	3039178	A	G	3039178	3	3	104	1	0	0	0	0	1	0	0	0	2657	14	1	3	903	3	CARS	11	3039178	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	429230	3039178	131967338	4019	70633											
NUP98	4928	broad.mit.edu	37	chr11	3716702	3716702	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttccagccaacagagcaaAgatgcgcagtctctcatcct	7	13	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:3716702A>G	uc001lyh.2	-	26	4435	c.4144T>C	c.(4144-4146)TTT>CTT	p.F1382L	NUP98_uc001lyi.2_Missense_Mutation_p.F1382L|NUP98_uc001lyg.2_Missense_Mutation_p.F347L	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1399					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AACAGAGCAAAGATGCGCAGT	0.483			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								G	3716702	A	G	3716702	3	3	104	1	0	0	0	0	1	0	0	0	10773	72	3	3	1290	3	NUP98	11	3716702	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	677524	3716702	131289814	4020	70634											
OR52M1	119772	broad.mit.edu	37	chr11	4567211	4567211	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgctgtttcttccctgaTtcaccgatttggtcagtgtg	9	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:4567211T>C	uc010qyf.1	+	1	791	c.791T>C	c.(790-792)ATT>ACT	p.I264T		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTCCCTGATTCACCGATTT	0.498													C	4567211	T	C	4567211	3	2	104	1	0	0	0	0	1	0	0	0	11126	1493	52	3	793	3	OR52M1	11	4567211	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	850509	4567211	130439305	4021	70635											
C11orf40	143501	broad.mit.edu	37	chr11	4593454	4593454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaagctggtgtttcattgCtcccacaggtagaggggctg	14	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:4593454C>T	uc010qyg.1	-	3	379	c.379G>A	c.(379-381)GCA>ACA	p.A127T		NM_144663	NP_653264	Q8WZ69	CK040_HUMAN	hypothetical protein LOC143501	127										ovary(2)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGTTTCATTGCTCCCACAGGT	0.438													T	4593454	C	T	4593454	3	4	104	1	0	0	0	0	1	0	0	0	1639	797	28	2	281	2	C11orf40	11	4593454	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	26243	4593454	130413062	4022	70636											
OR52I2	143502	broad.mit.edu	37	chr11	4608256	4608256	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatcatagccctgttaggaAacaccatcatcgtgactgca	7	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:4608256A>G	uc010qyh.1	+	1	214	c.214A>G	c.(214-216)AAC>GAC	p.N72D		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I,	72	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTGTTAGGAAACACCATCAT	0.507													G	4608256	A	G	4608256	3	3	104	1	0	0	0	0	1	0	0	0	11121	14	1	3	216	3	OR52I2	11	4608256	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	14802	4608256	130398260	4023	70637											
TRIM68	55128	broad.mit.edu	37	chr11	4621672	4621672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagaaagaaatgtcatggGcctcataatccacgaagatt	9	7	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:4621672G>A	uc001lzf.1	-	7	1530	c.1292C>T	c.(1291-1293)GCC>GTC	p.A431V	TRIM68_uc001lzg.1_Missense_Mutation_p.A208V|TRIM68_uc010qyj.1_RNA	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	ring finger protein 137	431	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		AATGTCATGGGCCTCATAATC	0.552													A	4621672	G	A	4621672	3	1	104	1	0	0	0	0	1	0	0	0	16538	1203	42	2	169	2	TRIM68	11	4621672	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13416	4621672	130384844	4024	70638											
OR51F1	256892	broad.mit.edu	37	chr11	4790838	4790838	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgaatccatgaagaaaaaAcatctggacaatgcagctat	8	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:4790838A>G	uc010qyl.1	-	1	310	c.310T>C	c.(310-312)TTT>CTT	p.F104L		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F,	104						integral to membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGAAGAAAAAACATCTGGACA	0.443													G	4790838	A	G	4790838	3	3	104	1	0	0	0	0	1	0	0	0	11096	43	2	3	631	3	OR51F1	11	4790838	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	169166	4790838	130215678	4025	70639											
OR51S1	119692	broad.mit.edu	37	chr11	4870013	4870013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attacaccattggtgaggagCgctgggtagtggagaggtcg	17	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:4870013C>T	uc010qyo.1	-	1	426	c.426G>A	c.(424-426)GCG>GCA	p.A142A		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	142	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGTGAGGAGCGCTGGGTAGT	0.532													T	4870013	C	T	4870013	2	4	104	1	0	0	0	0	0	0	0	1	11105	755	27	1		1	OR51S1	11	4870013	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	79175	4870013	130136503	4026	70640											
OR51T1	401665	broad.mit.edu	37	chr11	4904076	4904076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatccaagggttcatgggGttttaatgtgaggggtctta	13	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:4904076G>A	uc010qyp.1	+	1	1028	c.1028G>A	c.(1027-1029)GGT>GAT	p.G343D		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T,	316	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTTCATGGGGTTTTAATGTG	0.473													A	4904076	G	A	4904076	3	1	104	1	0	0	0	0	1	0	0	0	11106	1261	44	4	1030	4	OR51T1	11	4904076	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	34063	4904076	130102440	4027	70641											
OR52A5	390054	broad.mit.edu	37	chr11	5153774	5153774	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccaataagatacatggcagaGaaaggaatcccaatccaaca	7	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:5153774G>T	uc010qyx.1	-	1	99	c.99C>A	c.(97-99)TTC>TTA	p.F33L		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|lung(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ACATGGCAGAGAAAGGAATCC	0.403													T	5153774	G	T	5153774	3	4	104	1	0	0	0	0	1	0	0	0	11110	933	33	5	854	5	OR52A5	11	5153774	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	249698	5153774	129852742	4028	70642											
OR52A1	23538	broad.mit.edu	37	chr11	5173501	5173501	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcaatgagataaatggcacaGaatggaatcccaatccagca	9	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:5173501G>A	uc010qyy.1	-	1	99	c.99C>T	c.(97-99)TTC>TTT	p.F33F		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAATGGCACAGAATGGAATCC	0.453													A	5173501	G	A	5173501	2	1	104	1	0	0	0	0	0	0	0	1	11108	933	33	4		4	OR52A1	11	5173501	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	19727	5173501	129833015	4029	70643											
HBG2	3048	broad.mit.edu	37	chr11	5275593	5275593	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgggcaaaggtgcccttgaGatcatccaggtgctttatgg	13	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:5275593G>T	uc001mai.1	-	2	681	c.244C>A	c.(244-246)CTC>ATC	p.L82I	HBG2_uc001mak.1_RNA|HBG2_uc001maj.1_Missense_Mutation_p.L82I	NM_000559	NP_000550	P69892	HBG2_HUMAN	A-gamma globin	82					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			skin(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGCCCTTGAGATCATCCAGG	0.527													T	5275593	G	T	5275593	3	4	104	1	0	0	0	0	1	0	0	0	6983	942	33	5	207	5	HBG2	11	5275593	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	102092	5275593	129730923	4030	70644											
OR51B4	79339	broad.mit.edu	37	chr11	5322320	5322320	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttgatgctataaatgataGgattcacgaatggaggaaag	11	4	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:5322320G>T	uc010qza.1	-	1	857	c.857C>A	c.(856-858)CCT>CAT	p.P286H	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATAAATGATAGGATTCACGAA	0.423													T	5322320	G	T	5322320	3	4	104	1	0	0	0	0	1	0	0	0	11090	1000	35	5	78	5	OR51B4	11	5322320	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	46727	5322320	129684196	4031	70645											
OR51B5	282763	broad.mit.edu	37	chr11	5364321	5364321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaatcccctcatcagaactCccagcccaatcttcactact	2	18	4	1	rs148591287	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:5364321C>T	uc001map.1	-	1	434	c.434G>A	c.(433-435)GGA>GAA	p.G145E	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Missense_Mutation_p.G145E	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCAGAACTCCCAGCCCAAT	0.443													T	5364321	C	T	5364321	3	4	104	1	0	0	0	0	1	0	0	0	11091	855	30	4	508	4	OR51B5	11	5364321	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	42001	5364321	129642195	4032	70646											
OR51B6	390058	broad.mit.edu	37	chr11	5373216	5373216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattatgccaatagttgttcGcctacactggtttccctact	6	12	0	0	rs112049705		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:5373216G>A	uc010qzb.1	+	1	479	c.479G>A	c.(478-480)CGC>CAC	p.R160H	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B,	160	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATAGTTGTTCGCCTACACTGG	0.478													A	5373216	G	A	5373216	3	1	104	1	0	0	0	0	1	0	0	0	11092	1087	38	1	481	1	OR51B6	11	5373216	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	8895	5373216	129633300	4033	70647											
OR51B6	390058	broad.mit.edu	37	chr11	5373534	5373534	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcataggtttggaaagcatgTtcctcatgtcgttcacatca	8	9	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:5373534T>C	uc010qzb.1	+	1	797	c.797T>C	c.(796-798)GTT>GCT	p.V266A	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B,	266	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAAAGCATGTTCCTCATGTC	0.408													C	5373534	T	C	5373534	3	2	104	1	0	0	0	0	1	0	0	0	11092	1725	60	3	799	3	OR51B6	11	5373534	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	318	5373534	129632982	4034	70648											
OR51M1	390059	broad.mit.edu	37	chr11	5410951	5410951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatagtatctactttggagCgtgtcaaatccagatgttct	8	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:5410951C>T	uc010qzc.1	+	1	323	c.323C>T	c.(322-324)GCG>GTG	p.A108V	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M,	108						integral to membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACTTTGGAGCGTGTCAAATC	0.522													T	5410951	C	T	5410951	3	4	104	1	0	0	0	0	1	0	0	0	11103	768	27	1	325	1	OR51M1	11	5410951	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	37417	5410951	129595565	4035	70649											
OR51M1	390059	broad.mit.edu	37	chr11	5411514	5411514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaatgtctacctttttgtgCctcccatgcttaacccaatc	4	15	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:5411514C>T	uc010qzc.1	+	1	886	c.886C>T	c.(886-888)CCT>TCT	p.P296S	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M,	296						integral to membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTTTTTGTGCCTCCCATGCT	0.468													T	5411514	C	T	5411514	3	4	104	1	0	0	0	0	1	0	0	0	11103	739	26	2	888	2	OR51M1	11	5411514	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	563	5411514	129595002	4036	70650											
UBQLN3	50613	broad.mit.edu	37	chr11	5529786	5529786	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttataatacccagaaagtTtggaaacctatttctaatgt	5	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:5529786T>G	uc001may.1	-	2	1089	c.1003A>C	c.(1003-1005)AAC>CAC	p.N335H	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	335										ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCAGAAAGTTTGGAAACCTA	0.507													G	5529786	T	G	5529786	3	3	104	1	0	0	0	0	1	0	0	0	16895	1841	64	5	968	5	UBQLN3	11	5529786	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	118272	5529786	129476730	4037	70651											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5631384	5631384	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcctttctaggagtgagttCtggaccctgaggaagccaga	13	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:5631384C>A	uc001mbf.2	+	6	1111	c.867C>A	c.(865-867)TTC>TTA	p.F289L	HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.F235L|TRIM6_uc010qzj.1_Missense_Mutation_p.F86L|TRIM6_uc001mbc.1_Missense_Mutation_p.F261L|TRIM6_uc001mbe.2_Missense_Mutation_p.F86L|TRIM6_uc010qzk.1_Missense_Mutation_p.F86L|TRIM6_uc010qzl.1_Missense_Mutation_p.F86L|TRIM6_uc001mbd.2_Missense_Mutation_p.F289L|TRIM6_uc001mbg.1_Missense_Mutation_p.F86L|TRIM6_uc009yep.1_Missense_Mutation_p.F86L	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN	tripartite motif-containing 6 and tripartite	289						intracellular	zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		GGAGTGAGTTCTGGACCCTGA	0.522													A	5631384	C	A	5631384	3	1	104	1	0	0	0	0	1	0	0	0	16531	912	32	5	889	5	TRIM6-TRIM34	11	5631384	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	101598	5631384	129375132	4038	70652											
TRIM5	85363	broad.mit.edu	37	chr11	5701382	5701382	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtcacctcctcctttAcattaaccaggattccagaa	7	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:5701382A>G	uc001mbm.1	-	2	283	c.26T>C	c.(25-27)GTA>GCA	p.V9A	TRIM5_uc001mbq.1_Missense_Mutation_p.V9A|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.V9A|TRIM5_uc001mbo.2_Missense_Mutation_p.V9A|TRIM5_uc001mbp.2_Missense_Mutation_p.V9A	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	9					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CTCCTCCTTTACATTAACCAG	0.552													G	5701382	A	G	5701382	3	3	104	1	0	0	0	0	1	0	0	0	16522	391	14	3	1722	3	TRIM5	11	5701382	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	69998	5701382	129305134	4039	70653											
TRIM22	10346	broad.mit.edu	37	chr11	5730393	5730393	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttaagaattcaaatccatgtGatttttctgcttttggtgtc	7	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:5730393G>T	uc001mbr.2	+	8	1289	c.1012G>T	c.(1012-1014)GAT>TAT	p.D338Y	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Missense_Mutation_p.D334Y|TRIM22_uc010qzm.1_Missense_Mutation_p.D166Y|TRIM22_uc009yeu.2_Missense_Mutation_p.D149Y|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	tripartite motif-containing 22	338	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding				0		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		AAATCCATGTGATTTTTCTGC	0.443													T	5730393	G	T	5730393	3	4	104	1	0	0	0	0	1	0	0	0	16493	1290	45	5	1038	5	TRIM22	11	5730393	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	29011	5730393	129276123	4040	70654											
OR52N1	79473	broad.mit.edu	37	chr11	5809177	5809177	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accccatacacaatagggttCattgtgggaggcattagtag	11	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:5809177C>A	uc010qzo.1	-	1	870	c.870G>T	c.(868-870)ATG>ATT	p.M290I	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N,	290	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CAATAGGGTTCATTGTGGGAG	0.398													A	5809177	C	A	5809177	3	1	104	1	0	0	0	0	1	0	0	0	11127	826	29	5	95	5	OR52N1	11	5809177	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	78784	5809177	129197339	4041	70655											
OR52E8	390079	broad.mit.edu	37	chr11	5878752	5878752	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtagtacataggctcatggaGactctgctcagtctggatca	11	9	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:5878752G>A	uc010qzr.1	-	1	181	c.181C>T	c.(181-183)CTC>TTC	p.L61F	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	61	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTCATGGAGACTCTGCTCA	0.468													A	5878752	G	A	5878752	3	1	104	1	0	0	0	0	1	0	0	0	11118	942	33	4	774	4	OR52E8	11	5878752	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	69575	5878752	129127764	4042	70656											
OR52E4	390081	broad.mit.edu	37	chr11	5905807	5905807	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaacctccaagagatcagCtttgggggatgccttcttca	9	11	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:5905807C>A	uc010qzs.1	+	1	285	c.285C>A	c.(283-285)AGC>AGA	p.S95R	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	95	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGAGATCAGCTTTGGGGGAT	0.458													A	5905807	C	A	5905807	3	1	104	1	0	0	0	0	1	0	0	0	11116	796	28	5	287	5	OR52E4	11	5905807	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	27055	5905807	129100709	4043	70657											
OR52E4	390081	broad.mit.edu	37	chr11	5906275	5906275	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgtctgtgttatgctgtgCttttacacaccagcattttt	7	9	1	0	rs149421594		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:5906275C>A	uc010qzs.1	+	1	753	c.753C>A	c.(751-753)TGC>TGA	p.C251*	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	251	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTATGCTGTGCTTTTACACAC	0.418													A	5906275	C	A	5906275	4	1	104	1	0	0	0	0	0	1	0	0	11116	805	28	5	755	5	OR52E4	11	5906275	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	468	5906275	129100241	4044	70658											
OR56A1	120796	broad.mit.edu	37	chr11	6048000	6048000	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctccctctctgcagtaacTtctgaattccctgttttatc	4	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:6048000T>G	uc010qzw.1	-	1	935	c.935A>C	c.(934-936)AAG>ACG	p.K312T		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	312	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCAGTAACTTCTGAATTCC	0.433													G	6048000	T	G	6048000	3	3	104	1	0	0	0	0	1	0	0	0	11133	1609	56	5	25	5	OR56A1	11	6048000	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	141725	6048000	128958516	4045	70659											
CNGA4	1262	broad.mit.edu	37	chr11	6261346	6261346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaagggtaggatctcgagtCgctacgttcgcacctggagt	13	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:6261346C>T	uc001mco.2	+	4	429	c.322C>T	c.(322-324)CGC>TGC	p.R108C	CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.R68C	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	108	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATCTCGAGTCGCTACGTTCG	0.607													T	6261346	C	T	6261346	3	4	104	1	0	0	0	0	1	0	0	0	3599	884	31	1	336	1	CNGA4	11	6261346	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	213346	6261346	128745170	4046	70660											
CCKBR	887	broad.mit.edu	37	chr11	6290930	6290930	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccattagaatcactctttaCgcagtgatcttcctgatgag	8	10	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:6290930C>T	uc001mcp.2	+	2	376	c.183C>T	c.(181-183)TAC>TAT	p.Y61Y	CCKBR_uc001mcq.2_Translation_Start_Site|CCKBR_uc001mcr.2_Silent_p.Y61Y|CCKBR_uc001mcs.2_Silent_p.Y61Y	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	61	Helical; Name=1; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TCACTCTTTACGCAGTGATCT	0.532													T	6290930	C	T	6290930	2	4	104	1	0	0	0	0	0	0	0	1	2881	547	19	1		1	CCKBR	11	6290930	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	29584	6290930	128715586	4047	70661											
CCKBR	887	broad.mit.edu	37	chr11	6291065	6291065	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacctcctgctggctgtggcTtgcatgcccttcaccctcct	9	17	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:6291065T>G	uc001mcp.2	+	2	511	c.318T>G	c.(316-318)GCT>GCG	p.A106A	CCKBR_uc001mcq.2_Silent_p.A34A|CCKBR_uc001mcr.2_Silent_p.A106A|CCKBR_uc001mcs.2_Silent_p.A106A	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	106	Helical; Name=2; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TGGCTGTGGCTTGCATGCCCT	0.592													G	6291065	T	G	6291065	2	3	104	1	0	0	0	0	0	0	0	1	2881	1596	56	5		5	CCKBR	11	6291065	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	135	6291065	128715451	4048	70662											
SMPD1	6609	broad.mit.edu	37	chr11	6412632	6412632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaaggaacccaatgtggctCgcgtgggctccgtggccatc	14	12	0	1	rs140202512	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:6412632C>T	uc001mcw.2	+	2	511	c.337C>T	c.(337-339)CGC>TGC	p.R113C	SMPD1_uc001mcv.1_RNA|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.R113C|SMPD1_uc009yew.2_Missense_Mutation_p.R112C	NM_000543	NP_000534	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid	111	Saposin B-type.				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	CAATGTGGCTCGCGTGGGCTC	0.592													T	6412632	C	T	6412632	3	4	104	1	0	0	0	0	1	0	0	0	14804	884	31	1	343	1	SMPD1	11	6412632	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	121567	6412632	128593884	4049	70663											
SMPD1	6609	broad.mit.edu	37	chr11	6414487	6414487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccccataccccggtctccGcctcatctctctcaatatga	4	18	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:6414487G>A	uc001mcw.2	+	3	1307	c.1133G>A	c.(1132-1134)CGC>CAC	p.R378H	SMPD1_uc001mcv.1_RNA|SMPD1_uc009yex.2_Intron|SMPD1_uc001mcx.2_Intron|SMPD1_uc009yew.2_Missense_Mutation_p.R377H	NM_000543	NP_000534	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid	376			R -> H (in NPDB; also found in a patient with an intermediate form).|R -> L (in NPDB).		cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	CCCGGTCTCCGCCTCATCTCT	0.517													A	6414487	G	A	6414487	3	1	104	1	0	0	0	0	1	0	0	0	14804	1087	38	1	1183	1	SMPD1	11	6414487	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1855	6414487	128592029	4050	70664											
ARFIP2	23647	broad.mit.edu	37	chr11	6500092	6500092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggacactctcatacttgCgcttcgtctcacgcagcaac	8	15	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:6500092C>T	uc001mdk.2	-	5	550	c.413G>A	c.(412-414)CGC>CAC	p.R138H	ARFIP2_uc001mdl.2_Missense_Mutation_p.R138H|ARFIP2_uc010ral.1_Missense_Mutation_p.R100H|ARFIP2_uc010ram.1_Missense_Mutation_p.R44H|ARFIP2_uc010ran.1_Missense_Mutation_p.R171H|ARFIP2_uc001mdm.2_RNA|FXC1_uc001mdn.3_5'Flank|FXC1_uc001mdo.3_5'Flank	NM_012402	NP_036534	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	138	AH.				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCATACTTGCGCTTCGTCTC	0.572													T	6500092	C	T	6500092	3	4	104	1	0	0	0	0	1	0	0	0	855	768	27	1	628	1	ARFIP2	11	6500092	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	85605	6500092	128506424	4051	70665											
DNHD1	144132	broad.mit.edu	37	chr11	6540971	6540971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagctgaagcaagcagagGcctggtggctgcagctggga	17	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:6540971G>A	uc001mdw.3	+	8	2098	c.1534G>A	c.(1534-1536)GCC>ACC	p.A512T	DNHD1_uc001mdp.2_Missense_Mutation_p.A512T|DNHD1_uc001mdq.2_Missense_Mutation_p.A201T	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	512					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCAAGCAGAGGCCTGGTGGCT	0.517													A	6540971	G	A	6540971	3	1	104	1	0	0	0	0	1	0	0	0	4668	1203	42	2	1556	2	DNHD1	11	6540971	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	40879	6540971	128465545	4052	70666											
DNHD1	144132	broad.mit.edu	37	chr11	6588290	6588290	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtattgtgggcaccctatCgacctgtggtttggcatgga	14	8	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:6588290C>T	uc001mdw.3	+	36	12115	c.11551C>T	c.(11551-11553)CGA>TGA	p.R3851*	DNHD1_uc001mea.3_Nonsense_Mutation_p.R120*|DNHD1_uc001meb.2_Nonsense_Mutation_p.R119*|DNHD1_uc001mec.2_Nonsense_Mutation_p.R119*|DNHD1_uc010rao.1_Nonsense_Mutation_p.R109*|DNHD1_uc009yfg.2_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	3851					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGCACCCTATCGACCTGTGGT	0.522													T	6588290	C	T	6588290	4	4	104	1	0	0	0	0	0	1	0	0	4668	876	31	1	11694	1	DNHD1	11	6588290	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	47319	6588290	128418226	4053	70667											
DNHD1	144132	broad.mit.edu	37	chr11	6591310	6591310	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagtcttagcaatccccgtgCtgccatgcaagagctggctg	11	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:6591310C>G	uc001mdw.3	+	40	13499	c.12935C>G	c.(12934-12936)GCT>GGT	p.A4312G	DNHD1_uc001mea.3_Missense_Mutation_p.A581G|DNHD1_uc001meb.2_Missense_Mutation_p.A580G|DNHD1_uc001mec.2_Missense_Mutation_p.A580G|DNHD1_uc010rao.1_Missense_Mutation_p.A570G|DNHD1_uc009yfg.2_5'UTR	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	4312					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AATCCCCGTGCTGCCATGCAA	0.552													G	6591310	C	G	6591310	3	3	104	1	0	0	0	0	1	0	0	0	4668	797	28	5	13094	5	DNHD1	11	6591310	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3020	6591310	128415206	4054	70668											
OR2AG2	338755	broad.mit.edu	37	chr11	6789862	6789862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtaggaggtcctcagcGctacccattgtcagtgccag	12	13	2	0	rs145583606	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:6789862G>A	uc001meq.1	-	1	327	c.327C>T	c.(325-327)AGC>AGT	p.S109S		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG,	109	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGTCCTCAGCGCTACCCATTG	0.522													A	6789862	G	A	6789862	2	1	104	1	0	0	0	0	0	0	0	1	10985	1078	38	1		1	OR2AG2	11	6789862	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	198552	6789862	128216654	4055	70669											
OR6A2	8590	broad.mit.edu	37	chr11	6816380	6816380	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgagaggttgagcaatggaGagacatcacagaaaaagtgg	14	4	1	4	rs143570851	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:6816380G>T	uc001mes.1	-	1	760	c.560C>A	c.(559-561)TCT>TAT	p.S187Y		NM_003696	NP_003687	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAGCAATGGAGAGACATCACA	0.463													T	6816380	G	T	6816380	3	4	104	1	0	0	0	0	1	0	0	0	11186	942	33	5	427	5	OR6A2	11	6816380	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	26518	6816380	128190136	4056	70670											
OR10A5	144124	broad.mit.edu	37	chr11	6867289	6867289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcatatgaccgctatgtgGccatctgcagtcccttgcac	10	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:6867289G>A	uc001met.1	+	1	376	c.376G>A	c.(376-378)GCC>ACC	p.A126T		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCGCTATGTGGCCATCTGCAG	0.522													A	6867289	G	A	6867289	3	1	104	1	0	0	0	0	1	0	0	0	10893	1203	42	2	378	2	OR10A5	11	6867289	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	50909	6867289	128139227	4057	70671											
ZNF215	7762	broad.mit.edu	37	chr11	6977697	6977697	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatgtaaggaatgtagtAaagccttcaacaggagttca	9	6	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:6977697A>G	uc001mey.2	+	7	2077	c.1489A>G	c.(1489-1491)AAA>GAA	p.K497E	ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Missense_Mutation_p.K259E|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	zinc finger protein 215	497	C2H2-type 4.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GGAATGTAGTAAAGCCTTCAA	0.373													G	6977697	A	G	6977697	3	3	104	1	0	0	0	0	1	0	0	0	17768	363	13	3	1507	3	ZNF215	11	6977697	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	110408	6977697	128028819	4058	70672											
ZNF214	7761	broad.mit.edu	37	chr11	7021924	7021924	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttatcacactcaattttataGaatttctcttctgtgtggac	5	8	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:7021924G>T	uc001mfa.2	-	3	1293	c.990C>A	c.(988-990)TTC>TTA	p.F330L	ZNF214_uc010ray.1_Missense_Mutation_p.F330L|ZNF214_uc009yfh.1_Missense_Mutation_p.F330L	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	330	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		CAATTTTATAGAATTTCTCTT	0.383													T	7021924	G	T	7021924	3	4	104	1	0	0	0	0	1	0	0	0	17767	933	33	5	834	5	ZNF214	11	7021924	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	44227	7021924	127984592	4059	70673											
NLRP14	338323	broad.mit.edu	37	chr11	7063729	7063729	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcatggaattgcagagaaaGatagaaaactgttggaacac	10	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:7063729G>T	uc001mfb.1	+	4	795	c.472G>T	c.(472-474)GAT>TAT	p.D158Y		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	158					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGCAGAGAAAGATAGAAAACT	0.428													T	7063729	G	T	7063729	3	4	104	1	0	0	0	0	1	0	0	0	10476	942	33	5	482	5	NLRP14	11	7063729	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	41805	7063729	127942787	4060	70674											
SYT9	143425	broad.mit.edu	37	chr11	7439350	7439350	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgtccatagcagtcatggActatgaccggtgagatacct	10	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:7439350A>G	uc001mfe.2	+	5	1565	c.1328A>G	c.(1327-1329)GAC>GGC	p.D443G	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	443	Cytoplasmic (Potential).|C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GCAGTCATGGACTATGACCGG	0.502													G	7439350	A	G	7439350	3	3	104	1	0	0	0	0	1	0	0	0	15478	275	10	3	1346	3	SYT9	11	7439350	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	375621	7439350	127567166	4061	70675											
OR10A6	390093	broad.mit.edu	37	chr11	7949332	7949332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctcttcatctcactatttCgcaaactgtagataagcaga	5	12	3	2	rs143603778		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:7949332C>T	uc010rbh.1	-	1	878	c.878G>A	c.(877-879)CGA>CAA	p.R293Q		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A,	293	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCACTATTTCGCAAACTGTA	0.418													T	7949332	C	T	7949332	3	4	104	1	0	0	0	0	1	0	0	0	10894	884	31	1	69	1	OR10A6	11	7949332	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	509982	7949332	127057184	4062	70676											
OR10A6	390093	broad.mit.edu	37	chr11	7949936	7949936	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaacagcccccaaaagaaaTtgtagttttttcagtagaga	7	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:7949936T>G	uc010rbh.1	-	1	274	c.274A>C	c.(274-276)ATT>CTT	p.I92L		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A,	92	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCAAAAGAAATTGTAGTTTTT	0.433													G	7949936	T	G	7949936	3	3	104	1	0	0	0	0	1	0	0	0	10894	1493	52	5	673	5	OR10A6	11	7949936	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	604	7949936	127056580	4063	70677											
STK33	65975	broad.mit.edu	37	chr11	8496386	8496386	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggaacatacacaaagtacatCtttctgagaagcagatgaac	8	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:8496386C>A	uc001mgi.1	-	1	986	c.67G>T	c.(67-69)GAT>TAT	p.D23Y	STK33_uc001mgj.1_Missense_Mutation_p.D23Y|STK33_uc001mgk.1_Missense_Mutation_p.D23Y|STK33_uc010rbn.1_Intron|STK33_uc001mgl.3_Intron|STK33_uc009yfp.2_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	23						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CAAAGTACATCTTTCTGAGAA	0.383													A	8496386	C	A	8496386	3	1	104	1	0	0	0	0	1	0	0	0	15299	913	32	5	1525	5	STK33	11	8496386	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	546450	8496386	126510130	4064	70678											
ST5	6764	broad.mit.edu	37	chr11	8715670	8715670	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgtggagaaacttcatTttgttgcctgtgggccagag	12	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:8715670T>G	uc001mgt.2	-	20	3573	c.3387A>C	c.(3385-3387)AAA>AAC	p.K1129N	ST5_uc009yfr.2_Missense_Mutation_p.K709N|ST5_uc001mgu.2_Missense_Mutation_p.K709N|ST5_uc001mgv.2_Missense_Mutation_p.K1129N|ST5_uc010rbp.1_Missense_Mutation_p.K642N	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	1129					positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GAAACTTCATTTTGTTGCCTG	0.542													G	8715670	T	G	8715670	3	3	104	1	0	0	0	0	1	0	0	0	15219	1838	64	5	30	5	ST5	11	8715670	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	219284	8715670	126290846	4065	70679											
ST5	6764	broad.mit.edu	37	chr11	8724176	8724176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagcagtgaggcaaagattCggatgagctggcgcacactg	15	9	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:8724176C>T	uc001mgt.2	-	14	2849	c.2663G>A	c.(2662-2664)CGA>CAA	p.R888Q	ST5_uc009yfr.2_Missense_Mutation_p.R468Q|ST5_uc001mgu.2_Missense_Mutation_p.R468Q|ST5_uc001mgv.2_Missense_Mutation_p.R888Q|ST5_uc010rbp.1_Missense_Mutation_p.R401Q|ST5_uc009yfs.2_RNA	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	888	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGCAAAGATTCGGATGAGCTG	0.597													T	8724176	C	T	8724176	3	4	104	1	0	0	0	0	1	0	0	0	15219	884	31	1	778	1	ST5	11	8724176	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	8506	8724176	126282340	4066	70680											
ST5	6764	broad.mit.edu	37	chr11	8739286	8739286	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgatgtcagggctgagttAcctgtgtgggcgggctgttg	18	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:8739286A>G	uc001mgt.2	-	5	1815	c.1629_splice	c.e5+1	p.Q543_splice	ST5_uc009yfr.2_Splice_Site_p.Q123_splice|ST5_uc001mgu.2_Splice_Site_p.Q123_splice|ST5_uc001mgv.2_Splice_Site_p.Q543_splice|ST5_uc010rbq.1_Splice_Site|ST5_uc010rbp.1_Splice_Site_p.Q56_splice	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1						positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGGCTGAGTTACCTGTGTGGG	0.572													G	8739286	A	G	8739286	5	3	104	1	0	0	0	0	0	0	1	0	15219	405	14	3	1846	3	ST5	11	8739286	Splice_Site	SNP	A	TCGA-BR-8680-01A-11D-2394-08	15110	8739286	126267230	4067	70681											
NRIP3	56675	broad.mit.edu	37	chr11	9007350	9007350	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctttgagatgccggggtagaGaaagcttttctccttcatgc	11	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:9007350G>T	uc001mhg.2	-	4	584	c.470C>A	c.(469-471)TCT>TAT	p.S157Y	NRIP3_uc010rbu.1_Intron	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	157					proteolysis		aspartic-type endopeptidase activity				0				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		CCGGGGTAGAGAAAGCTTTTC	0.512													T	9007350	G	T	9007350	3	4	104	1	0	0	0	0	1	0	0	0	10654	942	33	5	271	5	NRIP3	11	9007350	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	268064	9007350	125999166	4068	70682											
SCUBE2	57758	broad.mit.edu	37	chr11	9051490	9051490	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcgtagtatttcctgggcaaGaaacacaattattttttcca	6	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:9051490G>T	uc001mhh.1	-	18	2437	c.2357C>A	c.(2356-2358)TCT>TAT	p.S786Y	SCUBE2_uc001mhi.1_Missense_Mutation_p.S758Y|SCUBE2_uc001mhj.1_Missense_Mutation_p.S660Y	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	786						extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TCCTGGGCAAGAAACACAATT	0.428													T	9051490	G	T	9051490	3	4	104	1	0	0	0	0	1	0	0	0	13945	942	33	5	662	5	SCUBE2	11	9051490	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	44140	9051490	125955026	4069	70683											
DENND5A	23258	broad.mit.edu	37	chr11	9166618	9166618	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcatacagcccagagttatCatggccaatctggacagtag	11	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:9166618C>A	uc001mhl.2	-	18	3301	c.3046G>T	c.(3046-3048)GAT>TAT	p.D1016Y	DENND5A_uc001mhk.2_Missense_Mutation_p.D359Y|DENND5A_uc010rbw.1_Missense_Mutation_p.D1016Y	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	1016	PLAT.									liver(1)	1						CCAGAGTTATCATGGCCAATC	0.443													A	9166618	C	A	9166618	3	1	104	1	0	0	0	0	1	0	0	0	4436	826	29	5	841	5	DENND5A	11	9166618	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	115128	9166618	125839898	4070	70684											
ZNF143	7702	broad.mit.edu	37	chr11	9522663	9522663	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggccctttaagtgtcccttCgaaggctgcggtcggtcctt	12	12	0	0	rs147334022		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:9522663C>T	uc001mhr.2	+	11	1111	c.993C>T	c.(991-993)TTC>TTT	p.F331F	ZNF143_uc009yfu.2_Silent_p.F330F|ZNF143_uc010rby.1_Silent_p.F300F	NM_003442	NP_003433	P52747	ZN143_HUMAN	zinc finger protein 143	331	C2H2-type 4.				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding				0				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		AGTGTCCCTTCGAAGGCTGCG	0.403													T	9522663	C	T	9522663	2	4	104	1	0	0	0	0	0	0	0	1	17729	883	31	1		1	ZNF143	11	9522663	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	356045	9522663	125483853	4071	70685											
CTR9	9646	broad.mit.edu	37	chr11	10789639	10789639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaaaagcgtcatcaagatCgtgctctggccatctacaaa	9	10	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:10789639C>T	uc001mja.2	+	15	2040	c.1891C>T	c.(1891-1893)CGT>TGT	p.R631C		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	631	TPR 13.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TCATCAAGATCGTGCTCTGGC	0.358													T	10789639	C	T	10789639	3	4	104	1	0	0	0	0	1	0	0	0	4024	884	31	1	1949	1	CTR9	11	10789639	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1266976	10789639	124216877	4072	70686											
USP47	55031	broad.mit.edu	37	chr11	11971915	11971915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttatcacatttgtaggtttCgtctaaggaaaaaaacatgg	8	6	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:11971915C>T	uc001mjs.2	+	24	4232	c.3469C>T	c.(3469-3471)CGT>TGT	p.R1157C	USP47_uc001mjr.2_Missense_Mutation_p.R1089C|USP47_uc009ygi.2_5'UTR	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	1177					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			ovary(1)|skin(1)	2				Epithelial(150;0.000339)		TTGTAGGTTTCGTCTAAGGAA	0.308													T	11971915	C	T	11971915	3	4	104	1	0	0	0	0	1	0	0	0	17075	884	31	1	3355	1	USP47	11	11971915	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1182276	11971915	123034601	4073	70687											
USP47	55031	broad.mit.edu	37	chr11	11971986	11971986	+	Translation_Start_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catatttatgaagaagatatTaatatttccagcaactggga	7	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:11971986T>G	uc009ygi.2	+	1	76	c.-127T>G	c.(-129--125)ATTAA>ATGAA		USP47_uc001mjr.2_Missense_Mutation_p.I1112M|USP47_uc001mjs.2_Missense_Mutation_p.I1180M			Q96K76	UBP47_HUMAN	RecName: Full=Ubiquitin carboxyl-terminal hydrolase 47;          EC=3.1.2.15; AltName: Full=Ubiquitin thioesterase 47; AltName: Full=Ubiquitin-specific-processing protease 47; AltName: Full=Deubiquitinating enzyme 47;						base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			ovary(1)|skin(1)	2				Epithelial(150;0.000339)		AAGAAGATATTAATATTTCCA	0.318													G	11971986	T	G	11971986	1	3	104	1	0	0	0	0	0	0	0	0	17075	1742	61	5		5	USP47	11	11971986	Translation_Start_Site	SNP	T	TCGA-BR-8680-01A-11D-2394-08	71	11971986	123034530	4074	70688											
MICAL2	9645	broad.mit.edu	37	chr11	12231140	12231140	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatggccgcaggaacacccTggaaggtgaagactcttctt	12	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:12231140T>C	uc001mjz.2	+	6	974	c.686T>C	c.(685-687)CTG>CCG	p.L229P	MICAL2_uc010rch.1_Missense_Mutation_p.L229P|MICAL2_uc001mka.2_Missense_Mutation_p.L229P|MICAL2_uc010rci.1_Missense_Mutation_p.L229P|MICAL2_uc001mkb.2_Missense_Mutation_p.L229P|MICAL2_uc001mkc.2_Missense_Mutation_p.L229P|MICAL2_uc001mkd.2_Missense_Mutation_p.L58P	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	229						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		AGGAACACCCTGGAAGGTGAA	0.527													C	12231140	T	C	12231140	3	2	104	1	0	0	0	0	1	0	0	0	9570	1580	55	3	700	3	MICAL2	11	12231140	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	259154	12231140	122775376	4075	70689											
MICALCL	84953	broad.mit.edu	37	chr11	12315174	12315174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcctcccaccccaaactttCggaggcgagccgtagcccaa	9	17	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:12315174C>T	uc001mkg.1	+	3	487	c.196C>T	c.(196-198)CGG>TGG	p.R66W		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	66	Interaction with MAPK1 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)		CCCAAACTTTCGGAGGCGAGC	0.552													T	12315174	C	T	12315174	3	4	104	1	0	0	0	0	1	0	0	0	9572	875	31	1	202	1	MICALCL	11	12315174	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	84034	12315174	122691342	4076	70690											
PARVA	55742	broad.mit.edu	37	chr11	12535563	12535563	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacactcatcactttcgtgaAcaagcacctgaataaactga	6	11	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:12535563A>G	uc001mki.2	+	10	867	c.818A>G	c.(817-819)AAC>AGC	p.N273S		NM_018222	NP_060692	Q9NVD7	PARVA_HUMAN	parvin, alpha	273	CH 2.				cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)	3				Epithelial(150;0.00624)		ACTTTCGTGAACAAGCACCTG	0.572													G	12535563	A	G	12535563	3	3	104	1	0	0	0	0	1	0	0	0	11468	43	2	3	856	3	PARVA	11	12535563	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	220389	12535563	122470953	4077	70691											
ARNTL	406	broad.mit.edu	37	chr11	13380010	13380010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcagattgaaaagcggcGtcgggataaaatgaacagtt	12	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:13380010G>A	uc001mkr.2	+	8	659	c.251G>A	c.(250-252)CGT>CAT	p.R84H	ARNTL_uc001mko.2_Missense_Mutation_p.R41H|ARNTL_uc001mkp.2_Missense_Mutation_p.R84H|ARNTL_uc001mkq.2_Missense_Mutation_p.R84H|ARNTL_uc001mks.2_Missense_Mutation_p.R41H|ARNTL_uc001mkt.2_Missense_Mutation_p.R84H|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Missense_Mutation_p.R41H|ARNTL_uc001mkv.1_Missense_Mutation_p.R41H|ARNTL_uc001mkw.2_Missense_Mutation_p.R41H|ARNTL_uc001mkx.2_Missense_Mutation_p.R82H	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	84	Basic motif.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0				Epithelial(150;0.0243)		GAAAAGCGGCGTCGGGATAAA	0.353													A	13380010	G	A	13380010	3	1	104	1	0	0	0	0	1	0	0	0	967	1145	40	1	280	1	ARNTL	11	13380010	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	844447	13380010	121626506	4078	70692											
RRAS2	22800	broad.mit.edu	37	chr11	14300968	14300968	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacattcctgctcttgaaatTtcctgtaagataaaaaattc	5	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:14300968T>G	uc001mlf.3	-	6	843	c.530A>C	c.(529-531)AAA>ACA	p.K177T	RRAS2_uc009ygq.2_Missense_Mutation_p.K100T|RRAS2_uc010rco.1_Missense_Mutation_p.K183T	NM_012250	NP_036382	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	177						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)	1				Epithelial(150;0.203)		CTCTTGAAATTTCCTGTAAGA	0.333													G	14300968	T	G	14300968	3	3	104	1	0	0	0	0	1	0	0	0	13677	1841	64	5	88	5	RRAS2	11	14300968	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	920958	14300968	120705548	4079	70693											
COPB1	1315	broad.mit.edu	37	chr11	14490365	14490365	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgcatgaaggaaatgggGtcatcaggctgtactgtcac	13	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:14490365G>A	uc001mli.2	-	16	2314	c.2007C>T	c.(2005-2007)GAC>GAT	p.D669D	COPB1_uc001mlg.2_Silent_p.D669D|COPB1_uc001mlh.2_Silent_p.D669D	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	669					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2						AGGAAATGGGGTCATCAGGCT	0.383													A	14490365	G	A	14490365	2	1	104	1	0	0	0	0	0	0	0	1	3728	1252	44	4		4	COPB1	11	14490365	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	189397	14490365	120516151	4080	70694											
PDE3B	5140	broad.mit.edu	37	chr11	14880774	14880774	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaaagcattttgattttctCgcagaattcaatgccaaggt	7	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:14880774C>T	uc001mln.2	+	13	3059	c.2706C>T	c.(2704-2706)CTC>CTT	p.L902L	PDE3B_uc010rcr.1_Silent_p.L851L	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	902	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						TTGATTTTCTCGCAGAATTCA	0.308													T	14880774	C	T	14880774	2	4	104	1	0	0	0	0	0	0	0	1	11638	871	31	1		1	PDE3B	11	14880774	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	390409	14880774	120125742	4081	70695											
PDE3B	5140	broad.mit.edu	37	chr11	14891108	14891108	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatcgtagaggaagaagaaAaatgtaaagctgatgggaat	12	2	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:14891108A>C	uc001mln.2	+	16	3594	c.3241A>C	c.(3241-3243)AAA>CAA	p.K1081Q	PDE3B_uc010rcr.1_Missense_Mutation_p.K1030Q	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	1081					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						GGAAGAAGAAAAATGTAAAGC	0.428													C	14891108	A	C	14891108	3	2	104	1	0	0	0	0	1	0	0	0	11638	15	1	5	3303	5	PDE3B	11	14891108	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	10334	14891108	120115408	4082	70696											
CYP2R1	120227	broad.mit.edu	37	chr11	14901790	14901790	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cactgagaaaattaggttttCtttggagaaagtagatgatg	11	3	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:14901790C>A	uc001mlr.2	-	3	892	c.892G>T	c.(892-894)GAA>TAA	p.E298*	CYP2R1_uc001mlo.2_Nonsense_Mutation_p.E65*|CYP2R1_uc001mlp.2_Nonsense_Mutation_p.E181*|CYP2R1_uc001mlq.2_RNA|CYP2R1_uc001mls.1_Nonsense_Mutation_p.E243*	NM_024514	NP_078790	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R,	298					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			ovary(1)|central_nervous_system(1)	2					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	ATTAGGTTTTCTTTGGAGAAA	0.403													A	14901790	C	A	14901790	4	1	104	1	0	0	0	0	0	1	0	0	4173	922	32	5	625	5	CYP2R1	11	14901790	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	10682	14901790	120104726	4083	70697											
CYP2R1	120227	broad.mit.edu	37	chr11	14907379	14907379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtctgtctgcaaaaatttCgctttgatgaacaaggcatt	9	7	2	2	rs61744571		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:14907379C>T	uc001mlr.2	-	2	310	c.310G>A	c.(310-312)GAA>AAA	p.E104K	CYP2R1_uc001mlo.2_Missense_Mutation_p.R7Q|CYP2R1_uc001mlp.2_5'UTR|CYP2R1_uc001mlq.2_RNA|CYP2R1_uc001mls.1_Missense_Mutation_p.E49K	NM_024514	NP_078790	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R,	104					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			ovary(1)|central_nervous_system(1)	2					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	GCAAAAATTTCGCTTTGATGA	0.348													T	14907379	C	T	14907379	3	4	104	1	0	0	0	0	1	0	0	0	4173	893	31	1	1211	1	CYP2R1	11	14907379	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5589	14907379	120099137	4084	70698											
SOX6	55553	broad.mit.edu	37	chr11	16119153	16119153	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttttttcttctggcacttAcctggagctgtaaagggctg	10	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:16119153A>G	uc001mme.2	-	8	1050	c.1017_splice	c.e8+1	p.Q339_splice	SOX6_uc001mmd.2_Splice_Site_p.Q329_splice|SOX6_uc001mmf.2_Splice_Site_p.Q326_splice|SOX6_uc001mmg.2_Splice_Site_p.Q326_splice	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4						muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						TCTGGCACTTACCTGGAGCTG	0.428													G	16119153	A	G	16119153	5	3	104	1	0	0	0	0	0	0	1	0	14955	405	14	3	1584	3	SOX6	11	16119153	Splice_Site	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1211774	16119153	118887363	4085	70699											
SOX6	55553	broad.mit.edu	37	chr11	16208354	16208354	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgttggcgagcaaggTccatttgctgccgttgtttc	12	10	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:16208354T>C	uc001mme.2	-	5	755	c.722A>G	c.(721-723)GAC>GGC	p.D241G	SOX6_uc001mmd.2_Missense_Mutation_p.D231G|SOX6_uc001mmf.2_Missense_Mutation_p.D228G|SOX6_uc001mmg.2_Missense_Mutation_p.D228G	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	228	Potential.|Gln-rich.				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						GCGAGCAAGGTCCATTTGCTG	0.493													C	16208354	T	C	16208354	3	2	104	1	0	0	0	0	1	0	0	0	14955	1667	58	3	1893	3	SOX6	11	16208354	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	89201	16208354	118798162	4086	70700											
PLEKHA7	144100	broad.mit.edu	37	chr11	16824525	16824525	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaactgacacgtactttgttCtctttaagggctcgtatctt	7	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:16824525C>A	uc001mmo.2	-	15	2166	c.2151G>T	c.(2149-2151)GAG>GAT	p.E717D	PLEKHA7_uc010rcu.1_Missense_Mutation_p.E717D|PLEKHA7_uc010rcv.1_Missense_Mutation_p.E291D|PLEKHA7_uc001mmn.2_Missense_Mutation_p.E425D	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	717	Potential.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						GTACTTTGTTCTCTTTAAGGG	0.448													A	16824525	C	A	16824525	3	1	104	1	0	0	0	0	1	0	0	0	12061	912	32	5	1250	5	PLEKHA7	11	16824525	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	616171	16824525	118181991	4087	70701											
PLEKHA7	144100	broad.mit.edu	37	chr11	16863173	16863173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttcatgtcctcctgggtgtCggcactgaagtagtaggtcc	13	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:16863173C>T	uc001mmo.2	-	9	808	c.793G>A	c.(793-795)GAC>AAC	p.D265N	PLEKHA7_uc010rcu.1_Missense_Mutation_p.D265N	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	265	PH.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						TCCTGGGTGTCGGCACTGAAG	0.587													T	16863173	C	T	16863173	3	4	104	1	0	0	0	0	1	0	0	0	12061	884	31	1	2632	1	PLEKHA7	11	16863173	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	38648	16863173	118143343	4088	70702											
PLEKHA7	144100	broad.mit.edu	37	chr11	16892681	16892681	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattcactattttctggagaAaactgtcccgtcacaggatg	8	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:16892681A>G	uc001mmo.2	-	4	285	c.270T>C	c.(268-270)TTT>TTC	p.F90F	PLEKHA7_uc010rcu.1_Silent_p.F90F	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	90					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						TTTCTGGAGAAAACTGTCCCG	0.413													G	16892681	A	G	16892681	2	3	104	1	0	0	0	0	0	0	0	1	12061	11	1	3		3	PLEKHA7	11	16892681	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	29508	16892681	118113835	4089	70703											
PIK3C2A	5286	broad.mit.edu	37	chr11	17139172	17139172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagagcacccaaaacatgttCgtatcgggtactaaactgta	9	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:17139172C>T	uc001mmq.3	-	18	3148	c.3082G>A	c.(3082-3084)GAA>AAA	p.E1028K	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.E648K|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	1028					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	AAAACATGTTCGTATCGGGTA	0.378													T	17139172	C	T	17139172	3	4	104	1	0	0	0	0	1	0	0	0	11909	893	31	1	2038	1	PIK3C2A	11	17139172	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	246491	17139172	117867344	4090	70704											
PIK3C2A	5286	broad.mit.edu	37	chr11	17177086	17177086	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccttactttgtaatggatcGacaaaaagctgccatctcct	6	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:17177086G>A	uc001mmq.3	-	2	1222	c.1156C>T	c.(1156-1158)CGA>TGA	p.R386*	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Nonsense_Mutation_p.R6*|PIK3C2A_uc001mmr.3_RNA|PIK3C2A_uc010rcx.1_Nonsense_Mutation_p.R386*|PIK3C2A_uc009ygv.1_Nonsense_Mutation_p.R386*	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	386					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	GTAATGGATCGACAAAAAGCT	0.303													A	17177086	G	A	17177086	4	1	104	1	0	0	0	0	0	1	0	0	11909	1066	37	1	4028	1	PIK3C2A	11	17177086	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	37914	17177086	117829430	4091	70705											
PIK3C2A	5286	broad.mit.edu	37	chr11	17190351	17190351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagatgacaatttgctgtcGatctctcttcaagaagaaca	7	9	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:17190351G>A	uc001mmq.3	-	1	1004	c.938C>T	c.(937-939)TCG>TTG	p.S313L	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Intron|PIK3C2A_uc001mmr.3_RNA|PIK3C2A_uc010rcx.1_Missense_Mutation_p.S313L|PIK3C2A_uc009ygv.1_Missense_Mutation_p.S313L	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	313					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	ATTTGCTGTCGATCTCTCTTC	0.393													A	17190351	G	A	17190351	3	1	104	1	0	0	0	0	1	0	0	0	11909	1059	37	1	4250	1	PIK3C2A	11	17190351	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13265	17190351	117816165	4092	70706											
TPH1	7166	broad.mit.edu	37	chr11	18057677	18057677	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggactcgatatgtaacagatTcacatgcttctcctgtgtaa	8	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:18057677T>C	uc001mnp.2	-	2	156	c.130A>G	c.(130-132)AAT>GAT	p.N44D	TPH1_uc009yhe.2_RNA	NM_004179	NP_004170	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	44	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity				0					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TGTAACAGATTCACATGCTTC	0.338													C	18057677	T	C	18057677	3	2	104	1	0	0	0	0	1	0	0	0	16398	1783	62	3	1240	3	TPH1	11	18057677	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	867326	18057677	116948839	4093	70707											
MRGPRX3	117195	broad.mit.edu	37	chr11	18159568	18159568	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccaaccccatcatttacttCttcgtgggctcctttaggca	7	14	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:18159568C>A	uc001mnu.2	+	3	1180	c.819C>A	c.(817-819)TTC>TTA	p.F273L		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	273	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						TCATTTACTTCTTCGTGGGCT	0.507													A	18159568	C	A	18159568	3	1	104	1	0	0	0	0	1	0	0	0	9768	912	32	5	821	5	MRGPRX3	11	18159568	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	101891	18159568	116846948	4094	70708											
SAA2	6289	broad.mit.edu	37	chr11	18267004	18267004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccatttattggcagcctgatCggccagcgagtcctccgcac	10	15	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:18267004C>T	uc001mnz.3	-	4	326	c.289G>A	c.(289-291)GAT>AAT	p.D97N	SAA2_uc009yhj.2_Intron	NM_030754	NP_110381	P02735	SAA_HUMAN	serum amyloid A2 isoform a	97				ADQAAN -> SEATVK (in Ref. 11; AA sequence).	acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding				0					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GCAGCCTGATCGGCCAGCGAG	0.557													T	18267004	C	T	18267004	3	4	104	1	0	0	0	0	1	0	0	0	13799	884	31	1	109	1	SAA2	11	18267004	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	107436	18267004	116739512	4095	70709											
HPS5	11234	broad.mit.edu	37	chr11	18309169	18309169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacaaagttgtatgatatccGatggcaaaatggatggaaag	12	4	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:18309169G>A	uc001mod.1	-	18	2908	c.2630C>T	c.(2629-2631)TCG>TTG	p.S877L	HPS5_uc001moe.1_Missense_Mutation_p.S763L|HPS5_uc001mof.1_Missense_Mutation_p.S763L	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5 isoform a	877						cytosol				ovary(1)|pancreas(1)|skin(1)	3						TATGATATCCGATGGCAAAAT	0.403									Hermansky-Pudlak_syndrome				A	18309169	G	A	18309169	3	1	104	1	0	0	0	0	1	0	0	0	7342	1059	37	1	783	1	HPS5	11	18309169	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	42165	18309169	116697347	4096	70710											
LDHA	3939	broad.mit.edu	37	chr11	18421014	18421014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgctcttgttgatgtcatcGaagacaaattgaagggagag	12	5	2	4	rs144856598		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:18421014G>A	uc001mok.3	+	3	435	c.163G>A	c.(163-165)GAA>AAA	p.E55K	LDHA_uc010rdc.1_Missense_Mutation_p.E55K|LDHA_uc009yhn.2_Missense_Mutation_p.E55K|LDHA_uc009yho.2_Intron|LDHA_uc001mol.3_Missense_Mutation_p.E55K|LDHA_uc010rdd.1_Missense_Mutation_p.E84K	NM_005566	NP_005557	P00338	LDHA_HUMAN	lactate dehydrogenase A isoform 1	55	NAD.				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)	3					NADH(DB00157)	TGATGTCATCGAAGACAAATT	0.378													A	18421014	G	A	18421014	3	1	104	1	0	0	0	0	1	0	0	0	8698	1059	37	1	260	1	LDHA	11	18421014	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	111845	18421014	116585502	4097	70711											
TSG101	7251	broad.mit.edu	37	chr11	18536371	18536371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtagccataggcatattgGaatattgtatgtattacctg	9	6	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:18536371G>A	uc001mor.2	-	4	337	c.211C>T	c.(211-213)CCA>TCA	p.P71S	TSG101_uc001mos.1_Missense_Mutation_p.P19S|TSG101_uc009yhs.1_Intron	NM_006292	NP_006283	Q99816	TS101_HUMAN	tumor susceptibility gene 101	71	UEV.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding				0						AGGCATATTGGAATATTGTAT	0.313													A	18536371	G	A	18536371	3	1	104	1	0	0	0	0	1	0	0	0	16613	1174	41	4	989	4	TSG101	11	18536371	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	115357	18536371	116470145	4098	70712											
TMEM86A	144110	broad.mit.edu	37	chr11	18723139	18723139	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtctgctgatgtttgctgtGacccacatgttctacgcctc	10	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:18723139G>A	uc001moz.1	+	3	389	c.306G>A	c.(304-306)GTG>GTA	p.V102V		NM_153347	NP_699178	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	102	Helical; (Potential).					integral to membrane				ovary(1)	1						TGTTTGCTGTGACCCACATGT	0.587													A	18723139	G	A	18723139	2	1	104	1	0	0	0	0	0	0	0	1	16205	1277	45	4		4	TMEM86A	11	18723139	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	186768	18723139	116283377	4099	70713											
SLC6A5	9152	broad.mit.edu	37	chr11	20668389	20668389	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctatttgcaggcttgcaaaGattctgtgaagatatagaga	10	5	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:20668389G>T	uc001mqd.2	+	14	2252	c.1979G>T	c.(1978-1980)AGA>ATA	p.R660I	SLC6A5_uc009yic.2_Missense_Mutation_p.R425I	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	660					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)|skin(1)	4					Glycine(DB00145)	GGCTTGCAAAGATTCTGTGAA	0.473													T	20668389	G	T	20668389	3	4	104	1	0	0	0	0	1	0	0	0	14687	942	33	5	2033	5	SLC6A5	11	20668389	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1945250	20668389	114338127	4100	70714											
SLC6A5	9152	broad.mit.edu	37	chr11	20673936	20673936	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatggctaatgctcgcctgTtccgtcatctggatcccaat	10	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:20673936T>C	uc001mqd.2	+	15	2445	c.2172T>C	c.(2170-2172)TGT>TGC	p.C724C	SLC6A5_uc009yic.2_Silent_p.C489C	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	724	Helical; Name=12; (Potential).				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)|skin(1)	4					Glycine(DB00145)	TGCTCGCCTGTTCCGTCATCT	0.463													C	20673936	T	C	20673936	2	2	104	1	0	0	0	0	0	0	0	1	14687	1731	60	3		3	SLC6A5	11	20673936	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	5547	20673936	114332580	4101	70715											
NELL1	4745	broad.mit.edu	37	chr11	21135211	21135211	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccttcctgggttatatcgCtgtgactgtgtcccaggata	10	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:21135211C>T	uc001mqe.2	+	13	1530	c.1377C>T	c.(1375-1377)CGC>CGT	p.R459R	NELL1_uc001mqf.2_Silent_p.R459R|NELL1_uc009yid.2_Silent_p.R487R|NELL1_uc010rdo.1_Silent_p.R402R|NELL1_uc010rdp.1_Silent_p.R219R	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	459	EGF-like 2; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						GGTTATATCGCTGTGACTGTG	0.403													T	21135211	C	T	21135211	2	4	104	1	0	0	0	0	0	0	0	1	10333	784	28	2		2	NELL1	11	21135211	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	461275	21135211	113871305	4102	70716											
NELL1	4745	broad.mit.edu	37	chr11	21135236	21135236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgtgtcccaggatacattCgtgtggatgacttctcttgt	10	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:21135236C>T	uc001mqe.2	+	13	1555	c.1402C>T	c.(1402-1404)CGT>TGT	p.R468C	NELL1_uc001mqf.2_Missense_Mutation_p.R468C|NELL1_uc009yid.2_Missense_Mutation_p.R496C|NELL1_uc010rdo.1_Missense_Mutation_p.R411C|NELL1_uc010rdp.1_Missense_Mutation_p.R228C	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	468	EGF-like 2; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						AGGATACATTCGTGTGGATGA	0.403													T	21135236	C	T	21135236	3	4	104	1	0	0	0	0	1	0	0	0	10333	884	31	1	1452	1	NELL1	11	21135236	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	25	21135236	113871280	4103	70717											
ANO5	203859	broad.mit.edu	37	chr11	22291982	22291982	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggcttttctatgagtacttaGaaacaggtaatttttaacca	7	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:22291982G>T	uc001mqi.2	+	18	2340	c.2023G>T	c.(2023-2025)GAA>TAA	p.E675*	ANO5_uc001mqj.2_Nonsense_Mutation_p.E674*	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	675	Extracellular (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						TGAGTACTTAGAAACAGGTAA	0.373													T	22291982	G	T	22291982	4	4	104	1	0	0	0	0	0	1	0	0	700	943	33	5	2093	5	ANO5	11	22291982	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1156746	22291982	112714534	4104	70718											
SLC17A6	57084	broad.mit.edu	37	chr11	22396342	22396342	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacacttagtaatgacaatTattgtgcctattgggggaca	9	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:22396342T>G	uc001mqk.2	+	9	1496	c.1083T>G	c.(1081-1083)ATT>ATG	p.I361M		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	361	Helical; (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						TAATGACAATTATTGTGCCTA	0.368													G	22396342	T	G	22396342	3	3	104	1	0	0	0	0	1	0	0	0	14421	1742	61	5	1117	5	SLC17A6	11	22396342	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	104360	22396342	112610174	4105	70719											
SLC5A12	159963	broad.mit.edu	37	chr11	26700347	26700347	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggagatcgagtaccaggtAtcagctattccaggtctgtg	12	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:26700347A>G	uc001mra.2	-	13	1804	c.1491T>C	c.(1489-1491)GAT>GAC	p.D497D	SLC5A12_uc001mrb.2_RNA	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	497	Extracellular (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)|skin(1)	2						AGTACCAGGTATCAGCTATTC	0.458													G	26700347	A	G	26700347	2	3	104	1	0	0	0	0	0	0	0	1	14664	446	16	3		3	SLC5A12	11	26700347	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	4304005	26700347	108306169	4106	70720											
FIBIN	387758	broad.mit.edu	37	chr11	27016106	27016106	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagttcttctgcatgagtttCttctgccacctgtgtcaagg	9	10	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:27016106C>T	uc001mrd.2	+	1	479	c.33C>T	c.(31-33)TTC>TTT	p.F11F		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog precursor	11						extracellular region|Golgi apparatus					0						GCATGAGTTTCTTCTGCCACC	0.532													T	27016106	C	T	27016106	2	4	104	1	0	0	0	0	0	0	0	1	5885	912	32	4		4	FIBIN	11	27016106	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	315759	27016106	107990410	4107	70721											
BDNF	627	broad.mit.edu	37	chr11	27679427	27679427	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtctatccttatgaatcGccagccaattctctttttgc	6	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:27679427G>A	uc010rdu.1	-	2	1536	c.685C>T	c.(685-687)CGA>TGA	p.R229*	BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_Intron|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_Intron|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_Intron|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_Intron|BDNFOS_uc009yip.2_Intron|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_Intron|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_Intron|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_Intron|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_Intron|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_Intron|BDNFOS_uc009yiz.2_Intron|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_Intron|BDNF_uc010rdv.1_Nonsense_Mutation_p.R229*|BDNF_uc001mrt.2_Nonsense_Mutation_p.R244*|BDNF_uc010rdw.1_Nonsense_Mutation_p.R229*|BDNF_uc009yjd.2_Nonsense_Mutation_p.R229*|BDNF_uc001mru.2_Nonsense_Mutation_p.R229*|BDNF_uc010rdx.1_Nonsense_Mutation_p.R229*|BDNF_uc010rdy.1_Nonsense_Mutation_p.R229*|BDNF_uc009yjg.2_Nonsense_Mutation_p.R229*|BDNF_uc009yje.2_Nonsense_Mutation_p.R311*|BDNF_uc009yjf.2_Nonsense_Mutation_p.R258*|BDNF_uc001mrv.2_Nonsense_Mutation_p.R229*|BDNF_uc001mrw.3_Nonsense_Mutation_p.R229*|BDNF_uc001mrx.2_Nonsense_Mutation_p.R229*|BDNF_uc001mry.3_Nonsense_Mutation_p.R229*|BDNF_uc001mrz.3_Nonsense_Mutation_p.R229*|BDNF_uc001msa.2_Nonsense_Mutation_p.R237*	NM_001143816	NP_001137288	P23560	BDNF_HUMAN	brain-derived neurotrophic factor isoform a	229						extracellular region	growth factor activity				0						CTTATGAATCGCCAGCCAATT	0.423													A	27679427	G	A	27679427	4	1	104	1	0	0	0	0	0	1	0	0	1394	1095	38	1	62	1	BDNF	11	27679427	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	663321	27679427	107327089	4108	70722											
KCNA4	3739	broad.mit.edu	37	chr11	30032364	30032364	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctcctcctttgcacacagaGattccttaactccttcttcc	3	16	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:30032364G>T	uc001msk.2	-	2	3014	c.1862C>A	c.(1861-1863)TCT>TAT	p.S621Y		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	621						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGCACACAGAGATTCCTTAAC	0.453													T	30032364	G	T	30032364	3	4	104	1	0	0	0	0	1	0	0	0	8005	942	33	5	103	5	KCNA4	11	30032364	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2352937	30032364	104974152	4109	70723											
MPPED2	744	broad.mit.edu	37	chr11	30439133	30439133	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggttccacttgtccagcagaGactgacctctgggtaggtta	12	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:30439133G>T	uc001msr.2	-	4	704	c.584C>A	c.(583-585)TCT>TAT	p.S195Y	MPPED2_uc001msq.3_Missense_Mutation_p.S195Y|MPPED2_uc009yji.2_Missense_Mutation_p.S69Y	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	195					nervous system development		hydrolase activity|metal ion binding			skin(1)	1						GTCCAGCAGAGACTGACCTCT	0.527													T	30439133	G	T	30439133	3	4	104	1	0	0	0	0	1	0	0	0	9742	942	33	5	384	5	MPPED2	11	30439133	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	406769	30439133	104567383	4110	70724											
ELP4	26610	broad.mit.edu	37	chr11	31625328	31625328	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttagcagattggaccagtatCatcttcaagatttggtcact	8	8	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:31625328C>A	uc001mtb.2	+	5	562	c.527C>A	c.(526-528)TCA>TAA	p.S176*	ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Nonsense_Mutation_p.S176*|ELP4_uc010rdz.1_Nonsense_Mutation_p.S177*	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN	elongation protein 4 homolog	176					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3	Lung SC(675;0.225)					GGACCAGTATCATCTTCAAGA	0.323													A	31625328	C	A	31625328	4	1	104	1	0	0	0	0	0	1	0	0	5082	838	29	5	545	5	ELP4	11	31625328	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1186195	31625328	103381188	4111	70725											
ELP4	26610	broad.mit.edu	37	chr11	31648659	31648659	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacttcttttaccaacagttCtttgacccctggctacacaa	4	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:31648659C>T	uc001mtb.2	+	6	691	c.656C>T	c.(655-657)TCT>TTT	p.S219F	ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Missense_Mutation_p.S219F|ELP4_uc010rdz.1_Missense_Mutation_p.S220F	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN	elongation protein 4 homolog	219					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3	Lung SC(675;0.225)					ACCAACAGTTCTTTGACCCCT	0.328													T	31648659	C	T	31648659	3	4	104	1	0	0	0	0	1	0	0	0	5082	913	32	4	678	4	ELP4	11	31648659	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	23331	31648659	103357857	4112	70726											
WT1	7490	broad.mit.edu	37	chr11	32439194	32439194	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggatgtcatttggtataaAttgtcactgttagaaaaaca	9	4	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:32439194A>C	uc001mtn.1	-	4	1075	c.879T>G	c.(877-879)AAT>AAG	p.N293K	WT1_uc001mtl.1_Missense_Mutation_p.N81K|WT1_uc001mtm.1_Missense_Mutation_p.N81K|WT1_uc001mto.1_Missense_Mutation_p.N293K|WT1_uc001mtp.1_Missense_Mutation_p.N293K|WT1_uc001mtq.1_Missense_Mutation_p.N293K|WT1_uc009yjs.1_RNA	NM_024426	NP_077744	P19544	WT1_HUMAN	Wilms tumor 1 isoform D	225					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(231)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TTTGGTATAAATTGTCACTGT	0.353			D|Mis|N|F|S	EWSR1	Wilms|desmoplastic small round cell tumor	Wilms			Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				C	32439194	A	C	32439194	3	2	104	1	0	0	0	0	1	0	0	0	17405	98	4	5	702	5	WT1	11	32439194	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	790535	32439194	102567322	4113	70727											
WT1	7490	broad.mit.edu	37	chr11	32449551	32449551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggctgccggtgcagctgtCggtgggggtgtggcagccat	19	10	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:32449551C>T	uc001mtn.1	-	3	1019	c.823G>A	c.(823-825)GAC>AAC	p.D275N	WT1_uc001mtl.1_Missense_Mutation_p.D63N|WT1_uc001mtm.1_Missense_Mutation_p.D63N|WT1_uc001mto.1_Missense_Mutation_p.D275N|WT1_uc001mtp.1_Missense_Mutation_p.D275N|WT1_uc001mtq.1_Missense_Mutation_p.D275N|WT1_uc009yjs.1_RNA	NM_024426	NP_077744	P19544	WT1_HUMAN	Wilms tumor 1 isoform D	207					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(231)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTGCAGCTGTCGGTGGGGGTG	0.677			D|Mis|N|F|S	EWSR1	Wilms|desmoplastic small round cell tumor	Wilms			Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				T	32449551	C	T	32449551	3	4	104	1	0	0	0	0	1	0	0	0	17405	884	31	1	762	1	WT1	11	32449551	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	10357	32449551	102556965	4114	70728											
CCDC73	493860	broad.mit.edu	37	chr11	32635173	32635173	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattcatgtatactggagtTttctcagtttttttatctga	6	5	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:32635173T>G	uc001mtv.2	-	16	2735	c.2691A>C	c.(2689-2691)AAA>AAC	p.K897N		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	897										ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)					ATACTGGAGTTTTCTCAGTTT	0.388													G	32635173	T	G	32635173	3	3	104	1	0	0	0	0	1	0	0	0	2846	1838	64	5	560	5	CCDC73	11	32635173	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	185622	32635173	102371343	4115	70729											
CCDC73	493860	broad.mit.edu	37	chr11	32636375	32636375	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaggtttgtccttgactaaTtacttctttatctaaggaga	8	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:32636375T>G	uc001mtv.2	-	16	1533	c.1489A>C	c.(1489-1491)ATT>CTT	p.I497L		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	497										ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)					CCTTGACTAATTACTTCTTTA	0.333													G	32636375	T	G	32636375	3	3	104	1	0	0	0	0	1	0	0	0	2846	1493	52	5	1762	5	CCDC73	11	32636375	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1202	32636375	102370141	4116	70730											
CCDC73	493860	broad.mit.edu	37	chr11	32657256	32657256	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttttacctgaaactttttgtCttcctcaaatgttttttgat	4	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:32657256C>G	uc001mtv.2	-	14	1215	c.1171G>C	c.(1171-1173)GAC>CAC	p.D391H	CCDC73_uc001mtw.1_Missense_Mutation_p.D381H	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	391										ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)					AACTTTTTGTCTTCCTCAAAT	0.249													G	32657256	C	G	32657256	3	3	104	1	0	0	0	0	1	0	0	0	2846	913	32	5	2088	5	CCDC73	11	32657256	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	20881	32657256	102349260	4117	70731											
CCDC73	493860	broad.mit.edu	37	chr11	32676471	32676471	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcccatcttatattgAcatgtgactttggactttat	5	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:32676471A>G	uc001mtv.2	-	10	737	c.693T>C	c.(691-693)TGT>TGC	p.C231C	CCDC73_uc001mtw.1_Silent_p.C231C	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	231										ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)					TCTTATATTGACATGTGACTT	0.279													G	32676471	A	G	32676471	2	3	104	1	0	0	0	0	0	0	0	1	2846	273	10	3		3	CCDC73	11	32676471	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	19215	32676471	102330045	4118	70732											
QSER1	79832	broad.mit.edu	37	chr11	32954327	32954327	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtataaaacattgactttttCtgggtcatctcagactgtaa	7	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:32954327C>A	uc001mty.2	+	4	1403	c.1136C>A	c.(1135-1137)TCT>TAT	p.S379Y	QSER1_uc001mtz.1_Intron|QSER1_uc001mua.2_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	379	Ser-rich.									ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					TTGACTTTTTCTGGGTCATCT	0.378													A	32954327	C	A	32954327	3	1	104	1	0	0	0	0	1	0	0	0	12882	913	32	5	1142	5	QSER1	11	32954327	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	277856	32954327	102052189	4119	70733											
QSER1	79832	broad.mit.edu	37	chr11	32976960	32976960	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgctgctacaaatagtgTaagtaaaatgcatgtttaca	7	5	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:32976960T>C	uc001mty.2	+	6	4497	c.4230_splice	c.e6+2	p.S1410_splice	QSER1_uc001mtz.1_Splice_Site_p.S1171_splice|QSER1_uc001mua.2_Splice_Site_p.S915_splice	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1											ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					ACAAATAGTGTAAGTAAAATG	0.284													C	32976960	T	C	32976960	5	2	104	1	0	0	0	0	0	0	1	0	12882	1652	57	3	4246	3	QSER1	11	32976960	Splice_Site	SNP	T	TCGA-BR-8680-01A-11D-2394-08	22633	32976960	102029556	4120	70734											
TCP11L1	55346	broad.mit.edu	37	chr11	33094125	33094125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttcagagagagctggaggAagttgctattaaatttgctc	12	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:33094125A>G	uc001mud.2	+	10	1833	c.1433A>G	c.(1432-1434)GAA>GGA	p.E478G	TCP11L1_uc009yju.2_Missense_Mutation_p.E293G|TCP11L1_uc010rei.1_Missense_Mutation_p.E478G|TCP11L1_uc001mue.2_Missense_Mutation_p.E478G|TCP11L1_uc001muf.1_RNA	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	t-complex 11 (mouse) like 1	478											0						GAGCTGGAGGAAGTTGCTATT	0.498													G	33094125	A	G	33094125	3	3	104	1	0	0	0	0	1	0	0	0	15711	246	9	3	1467	3	TCP11L1	11	33094125	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	117165	33094125	101912391	4121	70735											
HIPK3	10114	broad.mit.edu	37	chr11	33308184	33308184	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatagacctcgaggacacaActtttcattgcagacaagtg	8	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:33308184A>G	uc001mul.1	+	2	494	c.224A>G	c.(223-225)AAC>AGC	p.N75S	HIPK3_uc001mum.1_Missense_Mutation_p.N75S|HIPK3_uc009yjv.1_Missense_Mutation_p.N75S	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	75					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						CGAGGACACAACTTTTCATTG	0.453													G	33308184	A	G	33308184	3	3	104	1	0	0	0	0	1	0	0	0	7118	43	2	3	226	3	HIPK3	11	33308184	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	214059	33308184	101698332	4122	70736											
HIPK3	10114	broad.mit.edu	37	chr11	33308552	33308552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctccatgaaaaatacttacGaagtccttgattttcttggt	7	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:33308552G>A	uc001mul.1	+	2	862	c.592G>A	c.(592-594)GAA>AAA	p.E198K	HIPK3_uc001mum.1_Missense_Mutation_p.E198K|HIPK3_uc009yjv.1_Missense_Mutation_p.E198K	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	198	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						AAATACTTACGAAGTCCTTGA	0.393													A	33308552	G	A	33308552	3	1	104	1	0	0	0	0	1	0	0	0	7118	1059	37	1	594	1	HIPK3	11	33308552	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	368	33308552	101697964	4123	70737											
HIPK3	10114	broad.mit.edu	37	chr11	33375100	33375100	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccaacaaaactcagccagTatccatatatgtgaaaaaca	5	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:33375100T>C	uc001mul.1	+	17	3904	c.3634T>C	c.(3634-3636)TAT>CAT	p.Y1212H	HIPK3_uc001mum.1_Missense_Mutation_p.Y1191H|HIPK3_uc009yjv.1_Missense_Mutation_p.Y1191H	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	1212					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						ACTCAGCCAGTATCCATATAT	0.358													C	33375100	T	C	33375100	3	2	104	1	0	0	0	0	1	0	0	0	7118	1638	57	3	3696	3	HIPK3	11	33375100	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	66548	33375100	101631416	4124	70738											
CAPRIN1	4076	broad.mit.edu	37	chr11	34098105	34098105	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attagctatttactattaaaAggttgaatgaacagtatgaa	7	3	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:34098105A>C	uc001mvh.1	+	6	795	c.606_splice	c.e6-2	p.R202_splice	CAPRIN1_uc001mvg.2_Splice_Site_p.R202_splice|CAPRIN1_uc001mvi.2_Splice_Site_p.R202_splice|CAPRIN1_uc001mvj.1_Splice_Site_p.R121_splice	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	membrane component chromosome 11 surface marker						negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				TACTATTAAAAGGTTGAATGA	0.388													C	34098105	A	C	34098105	5	2	104	1	0	0	0	0	0	0	1	0	2635	86	3	5	622	5	CAPRIN1	11	34098105	Splice_Site	SNP	A	TCGA-BR-8680-01A-11D-2394-08	723005	34098105	100908411	4125	70739											
NAT10	55226	broad.mit.edu	37	chr11	34163346	34163346	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcatggagcccacgatgaaGaccctcagtgacgacctagt	11	12	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:34163346G>A	uc001mvk.2	+	26	3037	c.2793G>A	c.(2791-2793)AAG>AAA	p.K931K	NAT10_uc010ren.1_Silent_p.K859K	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 isoform a	931	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CCACGATGAAGACCCTCAGTG	0.507													A	34163346	G	A	34163346	2	1	104	1	0	0	0	0	0	0	0	1	10174	933	33	4		4	NAT10	11	34163346	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	65241	34163346	100843170	4126	70740											
ABTB2	25841	broad.mit.edu	37	chr11	34184328	34184328	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttagcctgctgtggctgCgtcaggagcttcctcaggac	13	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:34184328C>T	uc001mvl.1	-	10	1685	c.1455G>A	c.(1453-1455)ACG>ACA	p.T485T		NM_145804	NP_665803	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing	485							DNA binding			central_nervous_system(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GCTGTGGCTGCGTCAGGAGCT	0.642													T	34184328	C	T	34184328	2	4	104	1	0	0	0	0	0	0	0	1	103	755	27	1		1	ABTB2	11	34184328	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	20982	34184328	100822188	4127	70741											
EHF	26298	broad.mit.edu	37	chr11	34670605	34670605	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttccagtccacacacaatgTcattgtcaagactgaacaaa	6	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:34670605T>C	uc001mvr.1	+	4	494	c.383T>C	c.(382-384)GTC>GCC	p.V128A	EHF_uc009yke.1_Missense_Mutation_p.V128A|EHF_uc009ykf.1_Missense_Mutation_p.V131A	NM_012153	NP_036285	Q9NZC4	EHF_HUMAN	ets homologous factor	128					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			ACACACAATGTCATTGTCAAG	0.532													C	34670605	T	C	34670605	3	2	104	1	0	0	0	0	1	0	0	0	4981	1667	58	3	393	3	EHF	11	34670605	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	486277	34670605	100335911	4128	70742											
EHF	26298	broad.mit.edu	37	chr11	34680177	34680177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaagaccgatctgagggCgtcttcaggttcttgaaatc	13	8	4	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:34680177C>T	uc001mvr.1	+	8	816	c.705C>T	c.(703-705)GGC>GGT	p.G235G	EHF_uc009yke.1_Silent_p.G212G|EHF_uc009ykf.1_Silent_p.G238G	NM_012153	NP_036285	Q9NZC4	EHF_HUMAN	ets homologous factor	235	ETS.				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GATCTGAGGGCGTCTTCAGGT	0.488													T	34680177	C	T	34680177	2	4	104	1	0	0	0	0	0	0	0	1	4981	755	27	1		1	EHF	11	34680177	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	9572	34680177	100326339	4129	70743											
FJX1	24147	broad.mit.edu	37	chr11	35641111	35641111	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaccggctcgtaagcaacctCttcagcctgcagtgggaccc	11	15	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:35641111C>A	uc001mwh.2	+	1	1377	c.927C>A	c.(925-927)CTC>CTA	p.L309L		NM_014344	NP_055159	Q86VR8	FJX1_HUMAN	four jointed box 1 precursor	309						extracellular space					0	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				TAAGCAACCTCTTCAGCCTGC	0.627													A	35641111	C	A	35641111	2	1	104	1	0	0	0	0	0	0	0	1	5901	900	32	5		5	FJX1	11	35641111	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	960934	35641111	99365405	4130	70744											
FJX1	24147	broad.mit.edu	37	chr11	35641181	35641181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccgcggtccgggcgggGcgctggtctttctggacaat	16	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:35641181G>A	uc001mwh.2	+	1	1447	c.997G>A	c.(997-999)GCG>ACG	p.A333T		NM_014344	NP_055159	Q86VR8	FJX1_HUMAN	four jointed box 1 precursor	333						extracellular space					0	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				TCCGGGCGGGGCGCTGGTCTT	0.642													A	35641181	G	A	35641181	3	1	104	1	0	0	0	0	1	0	0	0	5901	1203	42	2	999	2	FJX1	11	35641181	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	70	35641181	99365335	4131	70745											
PRR5L	79899	broad.mit.edu	37	chr11	36467895	36467895	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctccctgctgggcttccgaGacctagtcttgctgaaggtg	12	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:36467895G>T	uc001mwo.3	+	7	879	c.490G>T	c.(490-492)GAC>TAC	p.D164Y	PRR5L_uc001mwp.2_Missense_Mutation_p.D164Y|PRR5L_uc009ykk.2_Intron|PRR5L_uc010rfc.1_Missense_Mutation_p.D164Y	NM_001160167	NP_001153639	Q6MZQ0	PRR5L_HUMAN	protor-2 isoform a	164										ovary(1)	1						GGGCTTCCGAGACCTAGTCTT	0.602													T	36467895	G	T	36467895	3	4	104	1	0	0	0	0	1	0	0	0	12602	942	33	5	518	5	PRR5L	11	36467895	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	826714	36467895	98538621	4132	70746											
ACCSL	390110	broad.mit.edu	37	chr11	44070029	44070029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catctctgtcttttatcagtCgagcttccaggactacaatg	7	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:44070029C>T	uc001mxw.1	+	1	499	c.443C>T	c.(442-444)TCG>TTG	p.S148L	ACCSL_uc009ykr.2_5'UTR	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	148							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						TTTTATCAGTCGAGCTTCCAG	0.502													T	44070029	C	T	44070029	3	4	104	1	0	0	0	0	1	0	0	0	134	893	31	1	445	1	ACCSL	11	44070029	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7602134	44070029	90936487	4133	70747											
SYT13	57586	broad.mit.edu	37	chr11	45267974	45267974	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gactggttagagtggaggttCttggctttaatcagcaccac	12	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:45267974C>T	uc001myq.2	-	5	1062	c.936G>A	c.(934-936)AAG>AAA	p.K312K	SYT13_uc009yku.1_Silent_p.K168K	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	312	C2 2.|Cytoplasmic (Potential).					transport vesicle				ovary(1)	1						AGTGGAGGTTCTTGGCTTTAA	0.582													T	45267974	C	T	45267974	2	4	104	1	0	0	0	0	0	0	0	1	15466	912	32	4		4	SYT13	11	45267974	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1197945	45267974	89738542	4134	70748											
CHST1	8534	broad.mit.edu	37	chr11	45671749	45671749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcggaaggtctcgctgcgcGaagccagaatgccgcggggg	18	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:45671749G>A	uc001mys.1	-	4	1396	c.725C>T	c.(724-726)TCG>TTG	p.S242L		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	242	Lumenal (Potential).|PAPS (By similarity).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CTCGCTGCGCGAAGCCAGAAT	0.662													A	45671749	G	A	45671749	3	1	104	1	0	0	0	0	1	0	0	0	3397	1059	37	1	514	1	CHST1	11	45671749	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	403775	45671749	89334767	4135	70749											
KIAA0652	9776	broad.mit.edu	37	chr11	46665897	46665897	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggacaagtttattaaatTttttgccctcaaggtaatgt	7	7	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:46665897T>G	uc009yld.2	+	3	740	c.56T>G	c.(55-57)TTT>TGT	p.F19C	KIAA0652_uc001nda.2_Missense_Mutation_p.F19C|KIAA0652_uc001ndb.2_Missense_Mutation_p.F19C|KIAA0652_uc001ncz.2_Missense_Mutation_p.F19C|KIAA0652_uc001ndc.2_Missense_Mutation_p.F19C|KIAA0652_uc010rgv.1_Intron	NM_001142673	NP_001136145	O75143	ATG13_HUMAN	autophagy-related protein 13 isoform 1	19					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding				0				GBM - Glioblastoma multiforme(35;0.226)		TTTATTAAATTTTTTGCCCTC	0.363													G	46665897	T	G	46665897	3	3	104	1	0	0	0	0	1	0	0	0	8188	1841	64	5	58	5	KIAA0652	11	46665897	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	994148	46665897	88340619	4136	70750											
CKAP5	9793	broad.mit.edu	37	chr11	46776615	46776615	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctgtctcaggacctcatcGatctgataacaaaaatttca	5	11	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:46776615G>A	uc001ndi.1	-	36	4802	c.4692C>T	c.(4690-4692)ATC>ATT	p.I1564I	CKAP5_uc009ylg.1_Silent_p.I1450I|CKAP5_uc001ndj.1_Intron|CKAP5_uc001ndh.1_Silent_p.I493I	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	1564					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						GGACCTCATCGATCTGATAAC	0.363													A	46776615	G	A	46776615	2	1	104	1	0	0	0	0	0	0	0	1	3445	1048	37	1		1	CKAP5	11	46776615	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	110718	46776615	88229901	4137	70751											
CKAP5	9793	broad.mit.edu	37	chr11	46804892	46804892	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctgactgatttttgggattCttttgtgagaaagccattga	10	5	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:46804892C>A	uc001ndi.1	-	18	2291	c.2181G>T	c.(2179-2181)AAG>AAT	p.K727N	CKAP5_uc009ylg.1_Missense_Mutation_p.K613N|CKAP5_uc001ndj.1_Missense_Mutation_p.K727N	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	727					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						TTTTGGGATTCTTTTGTGAGA	0.353													A	46804892	C	A	46804892	3	1	104	1	0	0	0	0	1	0	0	0	3445	912	32	5	4025	5	CKAP5	11	46804892	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	28277	46804892	88201624	4138	70752											
MADD	8567	broad.mit.edu	37	chr11	47348331	47348331	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaaaaagtgcaatacagttCgaggcgtctttgtcctggag	11	7	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:47348331C>T	uc001ner.1	+	34	4956	c.4765C>T	c.(4765-4767)CGA>TGA	p.R1589*	MADD_uc001neq.2_Nonsense_Mutation_p.R1530*|MADD_uc001nev.1_Intron|MADD_uc001nes.1_Nonsense_Mutation_p.R1507*|MADD_uc001net.1_Nonsense_Mutation_p.R1550*|MADD_uc009yln.1_Nonsense_Mutation_p.R1483*|MADD_uc001neu.1_Nonsense_Mutation_p.R1487*|MADD_uc001nex.2_Intron|MADD_uc001nez.2_Nonsense_Mutation_p.R1486*|MADD_uc001new.2_Nonsense_Mutation_p.R1529*	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	1589					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		CAATACAGTTCGAGGCGTCTT	0.517													T	47348331	C	T	47348331	4	4	104	1	0	0	0	0	0	1	0	0	9152	876	31	1	4895	1	MADD	11	47348331	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	543439	47348331	87658185	4139	70753											
SPI1	6688	broad.mit.edu	37	chr11	47397271	47397271	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgtgtcatagggcaccaggtCttctgatggctgctgagaga	14	9	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:47397271C>A	uc001nfc.1	-	2	278	c.55G>T	c.(55-57)GAC>TAC	p.D19Y	SPI1_uc001nfb.1_Missense_Mutation_p.D20Y|SLC39A13_uc001nfd.2_Intron|SPI1_uc009ylp.1_Missense_Mutation_p.D13Y	NM_003120	NP_003111	P17947	SPI1_HUMAN	hematopoietic transcription factor PU.1 isoform	19					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)	2				Lung(87;0.0967)		GGCACCAGGTCTTCTGATGGC	0.612													A	47397271	C	A	47397271	3	1	104	1	0	0	0	0	1	0	0	0	15048	913	32	5	773	5	SPI1	11	47397271	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	48940	47397271	87609245	4140	70754											
OR4C12	283093	broad.mit.edu	37	chr11	50003388	50003388	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaagatctcaagatgatcAcataggataccaccaagata	6	8	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:50003388A>G	uc010ria.1	-	1	650	c.650T>C	c.(649-651)GTG>GCG	p.V217A		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	217	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						CAAGATGATCACATAGGATAC	0.393													G	50003388	A	G	50003388	3	3	104	1	0	0	0	0	1	0	0	0	11046	159	6	3	283	3	OR4C12	11	50003388	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2606117	50003388	85003128	4141	70755											
OR4A16	81327	broad.mit.edu	37	chr11	55111601	55111601	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagttaagtatagttagaAaaagagtatctcccacactg	7	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:55111601A>C	uc010rie.1	+	1	925	c.925A>C	c.(925-927)AAA>CAA	p.K309Q		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	309	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3						TATAGTTAGAAAAAGAGTATC	0.343													C	55111601	A	C	55111601	3	2	104	1	0	0	0	0	1	0	0	0	11041	15	1	5	927	5	OR4A16	11	55111601	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	5108213	55111601	79894915	4142	70756											
OR4C15	81309	broad.mit.edu	37	chr11	55321977	55321977	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agctttgtaactgagtttgtCctcctgggactttcacagaa	9	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:55321977C>G	uc010rig.1	+	1	195	c.195C>G	c.(193-195)GTC>GTG	p.V65V		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	11	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CTGAGTTTGTCCTCCTGGGAC	0.383										HNSCC(20;0.049)			G	55321977	C	G	55321977	2	3	104	1	0	0	0	0	0	0	0	1	11048	842	30	5		5	OR4C15	11	55321977	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	210376	55321977	79684539	4143	70757											
OR4P4	81300	broad.mit.edu	37	chr11	55406575	55406575	+	Frame_Shift_Del	DEL	T	T	-													atgtaattgttgtggtcctgTtttttgcacctgcattgttc							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:55406574_55406574GT>G	uc010rij.2	+	0	741	c.741_741GT>G	c.(739-741)ctgfs	p.L247fs		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTGTGGTCCTGTTTTTTGCAC	0.388													-	55406575	T	-	55406575	7	5	104	1	0	1	0	1	0	0	0	0	11080	1725	60	0	744	0	OR4P4	11	55406575	Frame_Shift_Del	DEL	T	TCGA-BR-8680-01A-11D-2394-08	84598	55406575	79599941	4144	70758											
OR4S2	219431	broad.mit.edu	37	chr11	55418468	55418468	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtttgttttgtggtgttttCtttcttctacataatcattc	6	6	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:55418468C>A	uc001nhs.1	+	1	89	c.89C>A	c.(88-90)TCT>TAT	p.S30Y		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.0748)				GTGGTGTTTTCTTTCTTCTAC	0.388													A	55418468	C	A	55418468	3	1	104	1	0	0	0	0	1	0	0	0	11083	913	32	5	91	5	OR4S2	11	55418468	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	11893	55418468	79588048	4145	70759											
OR4C6	219432	broad.mit.edu	37	chr11	55433046	55433046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactacacgatcatcatgaGtccacgggtgtgctgcctaa	10	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:55433046G>A	uc001nht.3	+	3	669	c.404G>A	c.(403-405)AGT>AAT	p.S135N	OR4C6_uc010rik.1_Missense_Mutation_p.S135N	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						ATCATCATGAGTCCACGGGTG	0.517													A	55433046	G	A	55433046	3	1	104	1	0	0	0	0	1	0	0	0	11052	1029	36	4	406	4	OR4C6	11	55433046	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	14578	55433046	79573470	4146	70760											
OR5D13	390142	broad.mit.edu	37	chr11	55541018	55541018	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctttctggttttcttgttCgtctacacagtcactgtagt	7	10	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:55541018C>T	uc010ril.1	+	1	105	c.105C>T	c.(103-105)TTC>TTT	p.F35F		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				TTTTCTTGTTCGTCTACACAG	0.398													T	55541018	C	T	55541018	2	4	104	1	0	0	0	0	0	0	0	1	11154	883	31	1		1	OR5D13	11	55541018	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	107972	55541018	79465498	4147	70761											
OR5D13	390142	broad.mit.edu	37	chr11	55541337	55541337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactattatgtctcagaagCtctgtgctcttctggtggct	9	11	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:55541337C>T	uc010ril.1	+	1	424	c.424C>T	c.(424-426)CTC>TTC	p.L142F		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	142	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				GTCTCAGAAGCTCTGTGCTCT	0.428													T	55541337	C	T	55541337	3	4	104	1	0	0	0	0	1	0	0	0	11154	797	28	2	426	2	OR5D13	11	55541337	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	319	55541337	79465179	4148	70762											
OR5D14	219436	broad.mit.edu	37	chr11	55563579	55563579	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaccacttcttttgtgagtAtactgctctcatctctgtgt	6	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:55563579A>G	uc010rim.1	+	1	548	c.548A>G	c.(547-549)TAT>TGT	p.Y183C		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	183	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)				TTTTGTGAGTATACTGCTCTC	0.458													G	55563579	A	G	55563579	3	3	104	1	0	0	0	0	1	0	0	0	11155	449	16	3	550	3	OR5D14	11	55563579	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	22242	55563579	79442937	4149	70763											
OR5L2	26338	broad.mit.edu	37	chr11	55595592	55595592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaataaggatgtgaacaaaGctctcagaaaagtgatgggc	12	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:55595592G>A	uc001nhy.1	+	1	898	c.898G>A	c.(898-900)GCT>ACT	p.A300T		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				TGTGAACAAAGCTCTCAGAAA	0.463										HNSCC(27;0.073)			A	55595592	G	A	55595592	3	1	104	1	0	0	0	0	1	0	0	0	11171	971	34	2	900	2	OR5L2	11	55595592	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	32013	55595592	79410924	4150	70764											
OR5D16	390144	broad.mit.edu	37	chr11	55606387	55606387	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatagtgatcatcaaaattAacccaaaattgcataccccc	4	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:55606387A>C	uc010rio.1	+	1	160	c.160A>C	c.(160-162)AAC>CAC	p.N54H		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	54	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_epithelial(135;0.208)				CATCAAAATTAACCCAAAATT	0.433													C	55606387	A	C	55606387	3	2	104	1	0	0	0	0	1	0	0	0	11156	362	13	5	162	5	OR5D16	11	55606387	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	10795	55606387	79400129	4151	70765											
OR5D16	390144	broad.mit.edu	37	chr11	55606573	55606573	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgtagtgactgaattaattCtatttgcggtgatggcctat	10	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:55606573C>A	uc010rio.1	+	1	346	c.346C>A	c.(346-348)CTA>ATA	p.L116I		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	116	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_epithelial(135;0.208)				TGAATTAATTCTATTTGCGGT	0.438													A	55606573	C	A	55606573	3	1	104	1	0	0	0	0	1	0	0	0	11156	912	32	5	348	5	OR5D16	11	55606573	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	186	55606573	79399943	4152	70766											
SPRYD5	84767	broad.mit.edu	37	chr11	55658701	55658701	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttggatgtgaccctcaagatGatcccgatatcactggaaaa	9	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:55658701G>T	uc010rip.1	+	7	1044	c.952G>T	c.(952-954)GAT>TAT	p.D318Y	SPRYD5_uc010riq.1_Missense_Mutation_p.D175Y	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	318	B30.2/SPRY.					intracellular	zinc ion binding				0		all_epithelial(135;0.226)				CCCTCAAGATGATCCCGATAT	0.428													T	55658701	G	T	55658701	3	4	104	1	0	0	0	0	1	0	0	0	15110	1290	45	5	974	5	SPRYD5	11	55658701	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	52128	55658701	79347815	4153	70767											
OR5W2	390148	broad.mit.edu	37	chr11	55681666	55681666	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctagacatgttgactgtataGagcagggggttgatgatggc	15	5	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:55681666G>A	uc010rir.1	-	1	393	c.393C>T	c.(391-393)CTC>CTT	p.L131L		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGACTGTATAGAGCAGGGGGT	0.463													A	55681666	G	A	55681666	2	1	104	1	0	0	0	0	0	0	0	1	11185	929	33	4		4	OR5W2	11	55681666	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	22965	55681666	79324850	4154	70768											
OR10AG1	282770	broad.mit.edu	37	chr11	55735572	55735572	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggttcatcactagaggaTactgcaaaggcttacaaata	9	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:55735572T>C	uc010rit.1	-	1	368	c.368A>G	c.(367-369)TAT>TGT	p.Y123C		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG,	123	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.0137)					CACTAGAGGATACTGCAAAGG	0.433													C	55735572	T	C	55735572	3	2	104	1	0	0	0	0	1	0	0	0	10897	1406	49	3	540	3	OR10AG1	11	55735572	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	53906	55735572	79270944	4155	70769											
OR10AG1	282770	broad.mit.edu	37	chr11	55735927	55735927	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatatcagaaaaccccaaaaGaacaaattccattattgtag	4	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:55735927G>T	uc010rit.1	-	1	13	c.13C>A	c.(13-15)CTT>ATT	p.L5I		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG,	5	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.0137)					AACCCCAAAAGAACAAATTCC	0.313													T	55735927	G	T	55735927	3	4	104	1	0	0	0	0	1	0	0	0	10897	942	33	5	895	5	OR10AG1	11	55735927	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	355	55735927	79270589	4156	70770											
OR5AS1	219447	broad.mit.edu	37	chr11	55798656	55798656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaccttattctatggagcGctcctgtttatgtacttaca	7	10	2	0	rs146891393	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:55798656G>A	uc010riw.1	+	1	762	c.762G>A	c.(760-762)GCG>GCA	p.A254A		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	254	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)|skin(1)	5	Esophageal squamous(21;0.00693)					TCTATGGAGCGCTCCTGTTTA	0.448													A	55798656	G	A	55798656	2	1	104	1	0	0	0	0	0	0	0	1	11146	1074	38	1		1	OR5AS1	11	55798656	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	62729	55798656	79207860	4157	70771											
OR8H2	390151	broad.mit.edu	37	chr11	55873182	55873182	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgcatcctatgtgttcattCtctttaccatcctgaaaatt	4	11	2	1	rs150100978		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:55873182C>A	uc010riy.1	+	1	664	c.664C>A	c.(664-666)CTC>ATC	p.L222I		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	222	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	Esophageal squamous(21;0.00693)					TGTGTTCATTCTCTTTACCAT	0.403										HNSCC(53;0.14)			A	55873182	C	A	55873182	3	1	104	1	0	0	0	0	1	0	0	0	11238	913	32	5	666	5	OR8H2	11	55873182	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	74526	55873182	79133334	4158	70772											
OR8J3	81168	broad.mit.edu	37	chr11	55904703	55904703	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaagagcaataagacacagaGaatatacaaggtgaaaccac	9	7	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:55904703G>T	uc010riz.1	-	1	492	c.492C>A	c.(490-492)TTC>TTA	p.F164L		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	164	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					AAGACACAGAGAATATACAAG	0.413													T	55904703	G	T	55904703	3	4	104	1	0	0	0	0	1	0	0	0	11242	933	33	5	457	5	OR8J3	11	55904703	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	31521	55904703	79101813	4159	70773											
OR8K5	219453	broad.mit.edu	37	chr11	55927518	55927518	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcacatgcataataggaAatagtatttcgatccacaac	7	9	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:55927518A>C	uc010rja.1	-	1	276	c.276T>G	c.(274-276)ATT>ATG	p.I92M		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K,	92	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CATAATAGGAAATAGTATTTC	0.403													C	55927518	A	C	55927518	3	2	104	1	0	0	0	0	1	0	0	0	11245	10	1	5	650	5	OR8K5	11	55927518	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	22815	55927518	79078998	4160	70774											
OR5T3	390154	broad.mit.edu	37	chr11	56020510	56020510	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctcacctaactggagtgAcaatttatcatggaacaatt	7	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:56020510A>G	uc010rjd.1	+	1	835	c.835A>G	c.(835-837)ACA>GCA	p.T279A		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	279	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					AACTGGAGTGACAATTTATCA	0.398													G	56020510	A	G	56020510	3	3	104	1	0	0	0	0	1	0	0	0	11183	275	10	3	837	3	OR5T3	11	56020510	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	92992	56020510	78986006	4161	70775											
OR5T1	390155	broad.mit.edu	37	chr11	56043234	56043234	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgcaagtcttcctattTttattatttttagcaatcta	5	6	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:56043234T>G	uc001nio.1	+	1	120	c.120T>G	c.(118-120)TTT>TTG	p.F40L		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					TCTTCCTATTTTTATTATTTT	0.328													G	56043234	T	G	56043234	3	3	104	1	0	0	0	0	1	0	0	0	11181	1838	64	5	122	5	OR5T1	11	56043234	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	22724	56043234	78963282	4162	70776											
OR8K1	390157	broad.mit.edu	37	chr11	56114034	56114034	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaagttatttaaactgtccTtctgtggctcaaacataatc	5	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:56114034T>G	uc010rjg.1	+	1	520	c.520T>G	c.(520-522)TTC>GTC	p.F174V		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K,	174	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					TAAACTGTCCTTCTGTGGCTC	0.353										HNSCC(65;0.19)			G	56114034	T	G	56114034	3	3	104	1	0	0	0	0	1	0	0	0	11243	1609	56	5	522	5	OR8K1	11	56114034	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	70800	56114034	78892482	4163	70777											
OR5R1	219479	broad.mit.edu	37	chr11	56185686	56185686	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagaatgaatacagtgacaTaaatgatattaacttcagcc	6	7	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:56185686T>C	uc010rji.1	-	1	23	c.23A>G	c.(22-24)TAT>TGT	p.Y8C		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	8	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TACAGTGACATAAATGATATT	0.408													C	56185686	T	C	56185686	3	2	104	1	0	0	0	0	1	0	0	0	11180	1406	49	3	953	3	OR5R1	11	56185686	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	71652	56185686	78820830	4164	70778											
OR5R1	219479	broad.mit.edu	37	chr11	56185699	56185699	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgacataaatgatattaaCttcagccatttatcctaaca	4	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:56185699C>A	uc010rji.1	-	1	10	c.10G>T	c.(10-12)GTT>TTT	p.V4F		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	4	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					ATGATATTAACTTCAGCCATT	0.388													A	56185699	C	A	56185699	3	1	104	1	0	0	0	0	1	0	0	0	11180	565	20	5	966	5	OR5R1	11	56185699	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	13	56185699	78820817	4165	70779											
OR5M9	390162	broad.mit.edu	37	chr11	56230298	56230298	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aataacaatcattgtgatttCtttgatgtgcactctcccac	5	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:56230298C>A	uc010rjj.1	-	1	580	c.580G>T	c.(580-582)GAA>TAA	p.E194*		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	194	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					ATTGTGATTTCTTTGATGTGC	0.433													A	56230298	C	A	56230298	4	1	104	1	0	0	0	0	0	1	0	0	11177	922	32	5	354	5	OR5M9	11	56230298	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	44599	56230298	78776218	4166	70780											
OR5M8	219484	broad.mit.edu	37	chr11	56258583	56258583	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcaggataggaaatgcttttCttctctgaaaggaaaatctc	9	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:56258583C>A	uc001nix.1	-	1	264	c.264G>T	c.(262-264)AAG>AAT	p.K88N		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	88	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)					AAATGCTTTTCTTCTCTGAAA	0.458													A	56258583	C	A	56258583	3	1	104	1	0	0	0	0	1	0	0	0	11176	912	32	5	675	5	OR5M8	11	56258583	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	28285	56258583	78747933	4167	70781											
OR5M11	219487	broad.mit.edu	37	chr11	56310494	56310494	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatacgatattagtcgacatCtgcggggttgcatttgatgt	12	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:56310494C>A	uc010rjl.1	-	1	240	c.240G>T	c.(238-240)CAG>CAT	p.Q80H		NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M,	80	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TAGTCGACATCTGCGGGGTTG	0.433													A	56310494	C	A	56310494	3	1	104	1	0	0	0	0	1	0	0	0	11174	912	32	5	680	5	OR5M11	11	56310494	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	51911	56310494	78696022	4168	70782											
OR5AR1	219493	broad.mit.edu	37	chr11	56432021	56432021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcatccccatgttaaatcCcttgatctacagtttgcgga	6	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:56432021C>T	uc010rjm.1	+	1	860	c.860C>T	c.(859-861)CCC>CTC	p.P287L		NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ATGTTAAATCCCTTGATCTAC	0.403													T	56432021	C	T	56432021	3	4	104	1	0	0	0	0	1	0	0	0	11145	623	22	4	862	4	OR5AR1	11	56432021	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	121527	56432021	78574495	4169	70783											
APLNR	187	broad.mit.edu	37	chr11	57003635	57003635	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catgaggaagaggtcaaagtCacagggccagtgcagcaggc	15	9	2	2	rs143772778		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:57003635C>T	uc001njo.2	-	1	1293	c.844G>A	c.(844-846)GAC>AAC	p.D282N	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	282	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			lung(5)|ovary(1)	6						AGGTCAAAGTCACAGGGCCAG	0.572													T	57003635	C	T	57003635	3	4	104	1	0	0	0	0	1	0	0	0	777	826	29	4	302	4	APLNR	11	57003635	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	571614	57003635	78002881	4170	70784											
SSRP1	6749	broad.mit.edu	37	chr11	57099296	57099296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggacgtagatgaagccccGctccagcgggtagagcagtc	15	11	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:57099296G>A	uc001njt.2	-	9	1336	c.1069C>T	c.(1069-1071)CGG>TGG	p.R357W		NM_003146	NP_003137	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	357					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			ovary(2)	2						ATGAAGCCCCGCTCCAGCGGG	0.562													A	57099296	G	A	57099296	3	1	104	1	0	0	0	0	1	0	0	0	15193	1086	38	1	1096	1	SSRP1	11	57099296	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	95661	57099296	77907220	4171	70785											
ZDHHC5	25921	broad.mit.edu	37	chr11	57456029	57456029	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccgagctcccctttacaaAacagtggagataaagggcat	9	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:57456029A>C	uc001nkx.1	+	4	1532	c.276A>C	c.(274-276)AAA>AAC	p.K92N	ZDHHC5_uc001nky.1_Missense_Mutation_p.K39N|ZDHHC5_uc001nkz.1_5'UTR	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC domain containing 5	92						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)	1						CCCTTTACAAAACAGTGGAGA	0.443													C	57456029	A	C	57456029	3	2	104	1	0	0	0	0	1	0	0	0	17615	11	1	5	286	5	ZDHHC5	11	57456029	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	356733	57456029	77550487	4172	70786											
CTNND1	1500	broad.mit.edu	37	chr11	57576003	57576003	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgtggatgctcgcaacaaaGaattaattggtgaggagttg	13	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:57576003G>T	uc001nmc.3	+	14	2804	c.2233G>T	c.(2233-2235)GAA>TAA	p.E745*	CTNND1_uc001nlh.1_Nonsense_Mutation_p.E745*|CTNND1_uc001nlu.3_Nonsense_Mutation_p.E638*|CTNND1_uc001nlt.3_Nonsense_Mutation_p.E638*|CTNND1_uc001nls.3_Nonsense_Mutation_p.E638*|CTNND1_uc001nlw.3_Nonsense_Mutation_p.E638*|CTNND1_uc001nmf.3_Nonsense_Mutation_p.E745*|CTNND1_uc001nmd.3_Nonsense_Mutation_p.E691*|CTNND1_uc001nlk.3_Nonsense_Mutation_p.E691*|CTNND1_uc001nme.3_Nonsense_Mutation_p.E739*|CTNND1_uc001nll.3_Nonsense_Mutation_p.E685*|CTNND1_uc001nmg.3_Nonsense_Mutation_p.E685*|CTNND1_uc001nlj.3_Nonsense_Mutation_p.E685*|CTNND1_uc001nlr.3_Nonsense_Mutation_p.E685*|CTNND1_uc001nlp.3_Nonsense_Mutation_p.E685*|CTNND1_uc001nlx.3_Nonsense_Mutation_p.E422*|CTNND1_uc001nlz.3_Nonsense_Mutation_p.E422*|CTNND1_uc009ymn.2_Nonsense_Mutation_p.E416*|CTNND1_uc001nlm.3_Nonsense_Mutation_p.E739*|CTNND1_uc001nly.3_Nonsense_Mutation_p.E416*|CTNND1_uc001nmb.3_Nonsense_Mutation_p.E416*|CTNND1_uc001nma.3_Nonsense_Mutation_p.E416*|CTNND1_uc001nmi.3_Nonsense_Mutation_p.E644*|CTNND1_uc001nmh.3_Nonsense_Mutation_p.E739*|CTNND1_uc001nlq.3_Nonsense_Mutation_p.E644*|CTNND1_uc001nln.3_Nonsense_Mutation_p.E739*|CTNND1_uc001nli.3_Nonsense_Mutation_p.E739*|CTNND1_uc001nlo.3_Nonsense_Mutation_p.E638*|CTNND1_uc001nlv.3_Nonsense_Mutation_p.E638*	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	745	ARM 9.				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)				TCGCAACAAAGAATTAATTGG	0.408													T	57576003	G	T	57576003	4	4	104	1	0	0	0	0	0	1	0	0	4019	943	33	5	2279	5	CTNND1	11	57576003	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	119974	57576003	77430513	4173	70787											
OR9I1	219954	broad.mit.edu	37	chr11	57886886	57886886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagcccatgagaatgaattCggttactctggtgagattat	10	6	1	3	rs145179217		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:57886886C>T	uc001nml.1	-	1	31	c.31G>A	c.(31-33)GAA>AAA	p.E11K	OR9Q1_uc001nmj.2_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I,	11	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Breast(21;0.0589)				AGAATGAATTCGGTTACTCTG	0.428													T	57886886	C	T	57886886	3	4	104	1	0	0	0	0	1	0	0	0	11253	893	31	1	917	1	OR9I1	11	57886886	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	310883	57886886	77119630	4174	70788											
OR9Q1	219956	broad.mit.edu	37	chr11	57947716	57947716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtaactcagatcagtcttCggagaagaatcgggtagtgt	13	6	3	3	rs142831243		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:57947716C>T	uc001nmj.2	+	3	1116	c.800C>T	c.(799-801)TCG>TTG	p.S267L		NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.222)				GATCAGTCTTCGGAGAAGAAT	0.512													T	57947716	C	T	57947716	3	4	104	1	0	0	0	0	1	0	0	0	11255	893	31	1	802	1	OR9Q1	11	57947716	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	60830	57947716	77058800	4175	70789											
OR10W1	81341	broad.mit.edu	37	chr11	58035240	58035240	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaatgagaatgttcccagTgatgatcaaaccataaacca	6	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:58035240T>C	uc001nmq.1	-	1	493	c.91A>G	c.(91-93)ACT>GCT	p.T31A		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W,	31	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)				ATGTTCCCAGTGATGATCAAA	0.463													C	58035240	T	C	58035240	3	2	104	1	0	0	0	0	1	0	0	0	10921	1696	59	3	830	3	OR10W1	11	58035240	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	87524	58035240	76971276	4176	70790											
OR5B12	390191	broad.mit.edu	37	chr11	58207072	58207072	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtagttgtctgaacatgagaGagtcaagagaggaggagcat	15	4	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:58207072G>T	uc010rkh.1	-	1	553	c.553C>A	c.(553-555)CTC>ATC	p.L185I		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B,	185	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAACATGAGAGAGTCAAGAGA	0.403													T	58207072	G	T	58207072	3	4	104	1	0	0	0	0	1	0	0	0	11148	942	33	5	395	5	OR5B12	11	58207072	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	171832	58207072	76799444	4177	70791											
OR5B12	390191	broad.mit.edu	37	chr11	58207297	58207297	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cattgatgccaggaggaaacTttctgcagtgataaaggcta	11	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:58207297T>A	uc010rkh.1	-	1	328	c.328A>T	c.(328-330)AGT>TGT	p.S110C		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGGAGGAAACTTTCTGCAGTG	0.448													A	58207297	T	A	58207297	3	1	104	1	0	0	0	0	1	0	0	0	11148	1609	56	5	620	5	OR5B12	11	58207297	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	225	58207297	76799219	4178	70792											
ZFP91	80829	broad.mit.edu	37	chr11	58377501	58377501	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcagaaccaaatacagaccAacttgattatggtacagtgc	8	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:58377501A>G	uc001nmx.3	+	3	737	c.569A>G	c.(568-570)CAA>CGA	p.Q190R	ZFP91_uc001nmy.3_Missense_Mutation_p.Q190R|ZFP91-CNTF_uc010rkm.1_RNA	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	zinc finger protein 91	190					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AATACAGACCAACTTGATTAT	0.398													G	58377501	A	G	58377501	3	3	104	1	0	0	0	0	1	0	0	0	17652	130	5	3	579	3	ZFP91	11	58377501	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	170204	58377501	76629015	4179	70793											
GLYAT	10249	broad.mit.edu	37	chr11	58477342	58477342	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cattgctgtagtctacatgaGaatagacaggaaacccaagt	9	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:58477342G>A	uc001nnb.2	-	6	943	c.788C>T	c.(787-789)TCT>TTT	p.S263F		NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase isoform a	263					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity				0		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GTCTACATGAGAATAGACAGG	0.483													A	58477342	G	A	58477342	3	1	104	1	0	0	0	0	1	0	0	0	6479	942	33	4	106	4	GLYAT	11	58477342	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	99841	58477342	76529174	4180	70794											
GLYATL2	219970	broad.mit.edu	37	chr11	58604789	58604789	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgattacattggagtatgAcaggacttcctctaatttgt	9	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:58604789A>G	uc001nnd.3	-	4	399	c.268T>C	c.(268-270)TCA>CCA	p.S90P	GLYATL2_uc009ymq.2_Missense_Mutation_p.S90P	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	90						mitochondrion	glycine N-acyltransferase activity			ovary(1)|skin(1)	2		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TTGGAGTATGACAGGACTTCC	0.388													G	58604789	A	G	58604789	3	3	104	1	0	0	0	0	1	0	0	0	6481	275	10	3	628	3	GLYATL2	11	58604789	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	127447	58604789	76401727	4181	70795											
FAM111A	63901	broad.mit.edu	37	chr11	58920482	58920482	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcctgaaactgaaggaAaatggacaacaagtacctat	9	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:58920482A>C	uc010rkp.1	+	5	1568	c.1341A>C	c.(1339-1341)GAA>GAC	p.E447D	FAM111A_uc010rkq.1_Missense_Mutation_p.E447D|FAM111A_uc010rkr.1_Missense_Mutation_p.E447D|FAM111A_uc001nno.2_Missense_Mutation_p.E447D|FAM111A_uc001nnp.2_Missense_Mutation_p.E447D|FAM111A_uc001nnq.2_Missense_Mutation_p.E447D	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN	hypothetical protein LOC63901	447					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_epithelial(135;0.139)				AACTGAAGGAAAATGGACAAC	0.363													C	58920482	A	C	58920482	3	2	104	1	0	0	0	0	1	0	0	0	5399	11	1	5	1347	5	FAM111A	11	58920482	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	315693	58920482	76086034	4182	70796											
FAM111A	63901	broad.mit.edu	37	chr11	58920784	58920784	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cggctcccctgtgtttgattCaaaaggttcattggtggcca	11	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:58920784C>A	uc010rkp.1	+	5	1870	c.1643C>A	c.(1642-1644)TCA>TAA	p.S548*	FAM111A_uc010rkq.1_Nonsense_Mutation_p.S548*|FAM111A_uc010rkr.1_Nonsense_Mutation_p.S548*|FAM111A_uc001nno.2_Nonsense_Mutation_p.S548*|FAM111A_uc001nnp.2_Nonsense_Mutation_p.S548*|FAM111A_uc001nnq.2_Nonsense_Mutation_p.S548*	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN	hypothetical protein LOC63901	548					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_epithelial(135;0.139)				GTGTTTGATTCAAAAGGTTCA	0.418													A	58920784	C	A	58920784	4	1	104	1	0	0	0	0	0	1	0	0	5399	838	29	5	1649	5	FAM111A	11	58920784	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	302	58920784	76085732	4183	70797											
MPEG1	219972	broad.mit.edu	37	chr11	58979109	58979109	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagtagccagaggggcaggaGaaatcaccagtgagtggatt	16	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:58979109G>T	uc001nnu.3	-	1	1386	c.1230C>A	c.(1228-1230)TTC>TTA	p.F410L		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	410	Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)				AGGGGCAGGAGAAATCACCAG	0.537													T	58979109	G	T	58979109	3	4	104	1	0	0	0	0	1	0	0	0	9723	933	33	5	924	5	MPEG1	11	58979109	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	58325	58979109	76027407	4184	70798											
OR4D11	219986	broad.mit.edu	37	chr11	59271687	59271687	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actaccctgtggtttatcttCctgcttgtgtcctacacagt	7	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:59271687C>T	uc001noa.1	+	1	639	c.639C>T	c.(637-639)TTC>TTT	p.F213F		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	213	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GGTTTATCTTCCTGCTTGTGT	0.517													T	59271687	C	T	59271687	2	4	104	1	0	0	0	0	0	0	0	1	11055	854	30	4		4	OR4D11	11	59271687	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	292578	59271687	75734829	4185	70799											
OR4D9	390199	broad.mit.edu	37	chr11	59282741	59282741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttctctctctgtgatggCgtttgaccgctatatagcca	8	10	2	2	rs139740267		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:59282741C>T	uc010rkv.1	+	1	356	c.356C>T	c.(355-357)GCG>GTG	p.A119V		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TCTGTGATGGCGTTTGACCGC	0.527													T	59282741	C	T	59282741	3	4	104	1	0	0	0	0	1	0	0	0	11059	768	27	1	358	1	OR4D9	11	59282741	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	11054	59282741	75723775	4186	70800											
OR4D9	390199	broad.mit.edu	37	chr11	59282896	59282896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccactccctttctgtggaCccaatgttcttgacactttc	5	15	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:59282896C>T	uc010rkv.1	+	1	511	c.511C>T	c.(511-513)CCC>TCC	p.P171S		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D,	171	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTTCTGTGGACCCAATGTTCT	0.532													T	59282896	C	T	59282896	3	4	104	1	0	0	0	0	1	0	0	0	11059	507	18	4	513	4	OR4D9	11	59282896	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	155	59282896	75723620	4187	70801											
MRPL16	54948	broad.mit.edu	37	chr11	59575228	59575228	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagtggaaggtccccgTatgtcacttaaatttttagg	10	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:59575228T>C	uc001noh.2	-	3	430	c.216A>G	c.(214-216)ATA>ATG	p.I72M		NM_017840	NP_060310	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16 precursor	72							rRNA binding			central_nervous_system(1)	1						AAGGTCCCCGTATGTCACTTA	0.413													C	59575228	T	C	59575228	3	2	104	1	0	0	0	0	1	0	0	0	9781	1628	57	3	547	3	MRPL16	11	59575228	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	292332	59575228	75431288	4188	70802											
GIF	2694	broad.mit.edu	37	chr11	59603299	59603299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgaacataggatttttgCgctgtgcttcctctaggaca	9	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:59603299C>T	uc001noi.2	-	7	1103	c.1055G>A	c.(1054-1056)CGC>CAC	p.R352H		NM_005142	NP_005133	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	352					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			ovary(1)|liver(1)	2						AGGATTTTTGCGCTGTGCTTC	0.408													T	59603299	C	T	59603299	3	4	104	1	0	0	0	0	1	0	0	0	6376	768	27	1	210	1	GIF	11	59603299	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	28071	59603299	75403217	4189	70803											
MS4A7	58475	broad.mit.edu	37	chr11	60156897	60156897	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacctcaaatgcagtgagttCtgttactgcaggagcaggcc	12	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:60156897C>A	uc001npe.2	+	5	519	c.374C>A	c.(373-375)TCT>TAT	p.S125Y	MS4A7_uc001npf.2_Missense_Mutation_p.S125Y|MS4A7_uc001npg.2_Missense_Mutation_p.S80Y|MS4A7_uc001nph.2_Missense_Mutation_p.S80Y|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Missense_Mutation_p.S80Y	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member	125	Helical; (Potential).					integral to membrane	receptor activity			ovary(1)|central_nervous_system(1)	2						GCAGTGAGTTCTGTTACTGCA	0.493													A	60156897	C	A	60156897	3	1	104	1	0	0	0	0	1	0	0	0	9866	913	32	5	388	5	MS4A7	11	60156897	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	553598	60156897	74849619	4190	70804											
MS4A7	58475	broad.mit.edu	37	chr11	60157046	60157046	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatatgaaatcaaagattgtCtcctgaccagtgtcagttta	7	7	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:60157046C>T	uc001npe.2	+	5	668	c.523C>T	c.(523-525)CTC>TTC	p.L175F	MS4A7_uc001npf.2_Missense_Mutation_p.L175F|MS4A7_uc001npg.2_Missense_Mutation_p.L130F|MS4A7_uc001nph.2_Missense_Mutation_p.L130F|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Missense_Mutation_p.L130F	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member	175	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|central_nervous_system(1)	2						CAAAGATTGTCTCCTGACCAG	0.413													T	60157046	C	T	60157046	3	4	104	1	0	0	0	0	1	0	0	0	9866	913	32	4	537	4	MS4A7	11	60157046	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	149	60157046	74849470	4191	70805											
MS4A14	84689	broad.mit.edu	37	chr11	60164039	60164039	+	Translation_Start_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctctttcccttactagagttCtgccatagaatcatggagtc	7	11	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:60164039C>A	uc001npj.2	+	1	553	c.-12C>A	c.(-14--10)TTCTG>TTATG		MS4A14_uc001npi.2_Intron|MS4A14_uc001npn.2_Translation_Start_Site|MS4A14_uc001npk.2_Translation_Start_Site|MS4A14_uc001npl.2_Translation_Start_Site|MS4A14_uc001npm.2_Translation_Start_Site	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member							integral to membrane	receptor activity			breast(1)	1						TACTAGAGTTCTGCCATAGAA	0.468													A	60164039	C	A	60164039	1	1	104	1	0	0	0	0	0	0	0	0	9858	928	32	5		5	MS4A14	11	60164039	Translation_Start_Site	SNP	C	TCGA-BR-8680-01A-11D-2394-08	6993	60164039	74842477	4192	70806											
MS4A13	503497	broad.mit.edu	37	chr11	60296873	60296873	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtatcacgtattttactgttCttctacggtttggaattttc	7	7	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:60296873C>A	uc001nps.2	+	6	665	c.342C>A	c.(340-342)TTC>TTA	p.F114L	MS4A13_uc009ync.2_Missense_Mutation_p.F74L|MS4A13_uc009ynd.2_Missense_Mutation_p.F55L	NM_001012417	NP_001012417	Q5J8X5	M4A13_HUMAN	membrane-spanning 4-domains, subfamily A, member	114	Helical; (Potential).					integral to membrane					0						TTTTACTGTTCTTCTACGGTT	0.358													A	60296873	C	A	60296873	3	1	104	1	0	0	0	0	1	0	0	0	9857	912	32	5	356	5	MS4A13	11	60296873	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	132834	60296873	74709643	4193	70807											
MS4A13	503497	broad.mit.edu	37	chr11	60309995	60309995	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggttactttttttccagtttCgaagacaaaatgatcttaca	6	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:60309995C>T	uc001nps.2	+	7	729	c.406C>T	c.(406-408)CGA>TGA	p.R136*	MS4A13_uc009ync.2_Nonsense_Mutation_p.R96*|MS4A13_uc009ynd.2_Nonsense_Mutation_p.R77*	NM_001012417	NP_001012417	Q5J8X5	M4A13_HUMAN	membrane-spanning 4-domains, subfamily A, member	136						integral to membrane					0						TTTCCAGTTTCGAAGACAAAA	0.318													T	60309995	C	T	60309995	4	4	104	1	0	0	0	0	0	1	0	0	9857	876	31	1	424	1	MS4A13	11	60309995	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	13122	60309995	74696521	4194	70808											
MS4A10	341116	broad.mit.edu	37	chr11	60559761	60559761	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcatttcagggatcttggcGataacaatgaagaccttttc	8	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:60559761G>A	uc001npz.1	+	4	423	c.327G>A	c.(325-327)GCG>GCA	p.A109A		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member	109	Helical; (Potential).					integral to membrane	receptor activity			ovary(1)|skin(1)	2						GGATCTTGGCGATAACAATGA	0.453													A	60559761	G	A	60559761	2	1	104	1	0	0	0	0	0	0	0	1	9855	1045	37	1		1	MS4A10	11	60559761	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	249766	60559761	74446755	4195	70809											
PRPF19	27339	broad.mit.edu	37	chr11	60665619	60665619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttaaagttcttaagcttgCgcagatcccagagcttgaca	8	10	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:60665619C>T	uc001nqf.2	-	14	1472	c.1265G>A	c.(1264-1266)CGC>CAC	p.R422H		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	PRP19/PSO4 pre-mRNA processing factor 19	422	WD 5.				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			ovary(1)	1						CTTAAGCTTGCGCAGATCCCA	0.522													T	60665619	C	T	60665619	3	4	104	1	0	0	0	0	1	0	0	0	12564	768	27	1	261	1	PRPF19	11	60665619	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	105858	60665619	74340897	4196	70810											
SLC15A3	51296	broad.mit.edu	37	chr11	60708685	60708685	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgcaccgcagcagtaaaggGtcgatcaagcggtccttcag	12	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:60708685G>C	uc001nqn.2	-	5	1419	c.1185C>G	c.(1183-1185)GAC>GAG	p.D395E	SLC15A3_uc001nqo.2_Intron	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	solute carrier family 15, member 3	395					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0						GCAGTAAAGGGTCGATCAAGC	0.572													C	60708685	G	C	60708685	3	2	104	1	0	0	0	0	1	0	0	0	14400	1252	44	5	576	5	SLC15A3	11	60708685	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	43066	60708685	74297831	4197	70811											
VWCE	220001	broad.mit.edu	37	chr11	61032439	61032439	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcacctggcacgtgcAccgggtgcagggttcatcat	12	14	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:61032439A>G	uc001nra.2	-	18	2407	c.2128T>C	c.(2128-2130)TGC>CGC	p.C710R	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	710	VWFC 6.					extracellular region	calcium ion binding			ovary(1)	1						TGGCACGTGCACCGGGTGCAG	0.607													G	61032439	A	G	61032439	3	3	104	1	0	0	0	0	1	0	0	0	17242	159	6	3	751	3	VWCE	11	61032439	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	323754	61032439	73974077	4198	70812											
CYBASC3	220002	broad.mit.edu	37	chr11	61118518	61118518	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaagatgaagccagaaggAtgtagagcaccagcagccca	11	11	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:61118518A>G	uc001nrf.3	-	4	826	c.650T>C	c.(649-651)ATC>ACC	p.I217T	CYBASC3_uc010rlh.1_Missense_Mutation_p.I234T|CYBASC3_uc001nrg.2_Missense_Mutation_p.I217T|CYBASC3_uc009ynn.2_RNA|CYBASC3_uc001nrh.2_Missense_Mutation_p.I217T|CYBASC3_uc001nri.2_RNA	NM_001161452	NP_001154924	Q8NBI2	CYAC3_HUMAN	cytochrome b, ascorbate dependent 3 isoform 2	217	Cytochrome b561.|Helical; Name=6; (Potential).				electron transport chain|transport	integral to membrane|late endosome membrane|lysosomal membrane	metal ion binding|oxidoreductase activity				0						AGCCAGAAGGATGTAGAGCAC	0.607													G	61118518	A	G	61118518	3	3	104	1	0	0	0	0	1	0	0	0	4132	333	12	3	86	3	CYBASC3	11	61118518	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	86079	61118518	73887998	4199	70813											
C11orf66	220004	broad.mit.edu	37	chr11	61253289	61253289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatttcttgcagaagaaatCgatcggcgcaaaggagggga	14	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:61253289C>T	uc001nru.1	+	7	718	c.593C>T	c.(592-594)TCG>TTG	p.S198L	C11orf66_uc009ynq.1_Missense_Mutation_p.S198L	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	198										ovary(1)	1						CAGAAGAAATCGATCGGCGCA	0.592													T	61253289	C	T	61253289	3	4	104	1	0	0	0	0	1	0	0	0	1656	893	31	1	615	1	C11orf66	11	61253289	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	134771	61253289	73753227	4200	70814											
C11orf10	746	broad.mit.edu	37	chr11	61558069	61558069	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtatatctgctcatggcctcGagctcctagaggagggaaag	13	9	2	1	rs141028687		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:61558069G>A	uc001nsf.2	-	2	64	c.9C>T	c.(7-9)CTC>CTT	p.L3L	FEN1_uc001nsg.2_5'Flank	NM_014206	NP_055021	P61165	CK010_HUMAN	hypothetical protein LOC746	3						integral to membrane				breast(1)	1						TCATGGCCTCGAGCTCCTAGA	0.537													A	61558069	G	A	61558069	2	1	104	1	0	0	0	0	0	0	0	1	1630	1045	37	1		1	C11orf10	11	61558069	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	304780	61558069	73448447	4201	70815											
FADS3	3995	broad.mit.edu	37	chr11	61645986	61645986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgtccctccccacccacctCgacggatgactcccccagga	7	21	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:61645986C>T	uc001nsm.2	-	5	898	c.745G>A	c.(745-747)GAG>AAG	p.E249K	FADS3_uc001nsn.2_Missense_Mutation_p.E125K	NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	249	Cytoplasmic (Potential).				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			ovary(1)|pancreas(1)	2						CCACCCACCTCGACGGATGAC	0.642													T	61645986	C	T	61645986	3	4	104	1	0	0	0	0	1	0	0	0	5367	893	31	1	624	1	FADS3	11	61645986	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	87917	61645986	73360530	4202	70816											
INCENP	3619	broad.mit.edu	37	chr11	61919280	61919280	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccagtactaccacccaccGaaccttctggagctctttgg	7	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:61919280G>A	uc001nsw.1	+	19	2791	c.2589G>A	c.(2587-2589)CCG>CCA	p.P863P	INCENP_uc001nsx.1_Silent_p.P859P|INCENP_uc001nsy.1_Silent_p.P277P	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	863					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1						ACCACCCACCGAACCTTCTGG	0.567													A	61919280	G	A	61919280	2	1	104	1	0	0	0	0	0	0	0	1	7733	1045	37	1		1	INCENP	11	61919280	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	273294	61919280	73087236	4203	70817											
MTA2	9219	broad.mit.edu	37	chr11	62362466	62362466	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccatacccagatctttgacGatagttgccaggggcagccg	11	13	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:62362466G>A	uc001ntq.1	-	15	1941	c.1560C>T	c.(1558-1560)ATC>ATT	p.I520I	MTA2_uc010rlx.1_Silent_p.I347I	NM_004739	NP_004730	O94776	MTA2_HUMAN	metastasis-associated protein 2	520					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						GATCTTTGACGATAGTTGCCA	0.527													A	62362466	G	A	62362466	2	1	104	1	0	0	0	0	0	0	0	1	9909	1048	37	1		1	MTA2	11	62362466	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	443186	62362466	72644050	4204	70818											
GANAB	23193	broad.mit.edu	37	chr11	62402472	62402472	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacgaccagagacagaaagCctgggaaacatatcaaaaga	9	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:62402472C>T	uc001nub.2	-	5	414	c.381G>A	c.(379-381)CGG>CGA	p.R127R	GANAB_uc001nua.2_Silent_p.R127R|GANAB_uc001nuc.2_Silent_p.R30R|GANAB_uc010rma.1_Silent_p.R13R|GANAB_uc010rmb.1_Silent_p.R13R	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	127					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						AGACAGAAAGCCTGGGAAACA	0.453													T	62402472	C	T	62402472	2	4	104	1	0	0	0	0	0	0	0	1	6233	753	26	2		2	GANAB	11	62402472	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	40006	62402472	72604044	4205	70819											
METTL12	751071	broad.mit.edu	37	chr11	62433962	62433962	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtccccaccttcgactggttCtttggatacgacgaagtcca	9	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:62433962C>A	uc001nug.1	+	3	421	c.162C>A	c.(160-162)TTC>TTA	p.F54L	C11orf48_uc001nue.2_Intron|C11orf48_uc001nuf.2_Intron|METTL12_uc001nuh.2_Missense_Mutation_p.S96Y|METTL12_uc010rmc.1_RNA	NM_001043229	NP_001036694	A8MUP2	MTL12_HUMAN	methyltransferase like 12 precursor	54						mitochondrion	methyltransferase activity				0						TCGACTGGTTCTTTGGATACG	0.617													A	62433962	C	A	62433962	3	1	104	1	0	0	0	0	1	0	0	0	9496	912	32	5	168	5	METTL12	11	62433962	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	31490	62433962	72572554	4206	70820											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62484514	62484514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacgcttgtttcggttgtttCggcgatttgtccgcttctcg	11	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:62484514C>T	uc001nuw.2	-	11	2121	c.1928G>A	c.(1927-1929)CGA>CAA	p.R643Q	HNRNPUL2_uc001nuu.1_RNA	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like	643					cell killing	nucleus	ATP binding|nucleic acid binding				0						TCGGTTGTTTCGGCGATTTGT	0.567													T	62484514	C	T	62484514	3	4	104	1	0	0	0	0	1	0	0	0	7275	884	31	1	331	1	HNRNPUL2	11	62484514	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	50552	62484514	72522002	4207	70821											
NXF1	10482	broad.mit.edu	37	chr11	62564692	62564692	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaccagactcttcaagttttCtgttccaaaatagcttccct	5	12	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:62564692C>A	uc001nvf.1	-	13	1277	c.1141G>T	c.(1141-1143)GAA>TAA	p.E381*	NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_Nonsense_Mutation_p.E424*	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	381					gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3						TTCAAGTTTTCTGTTCCAAAA	0.498													A	62564692	C	A	62564692	4	1	104	1	0	0	0	0	0	1	0	0	10782	922	32	5	754	5	NXF1	11	62564692	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	80178	62564692	72441824	4208	70822											
STX5	6811	broad.mit.edu	37	chr11	62594857	62594857	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcaaatgtgttgctaaggtCtttcccaatgcgcctgcaaa	10	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:62594857C>A	uc001nvh.2	-	4	464	c.310G>T	c.(310-312)GAC>TAC	p.D104Y	STX5_uc010rmi.1_Missense_Mutation_p.D8Y|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Missense_Mutation_p.D50Y|STX5_uc010rmj.1_Missense_Mutation_p.D104Y|STX5_uc001nvj.2_5'UTR	NM_003164	NP_003155	Q13190	STX5_HUMAN	syntaxin 5	104	Cytoplasmic (Potential).				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			ovary(1)|breast(1)	2						TTGCTAAGGTCTTTCCCAATG	0.493													A	62594857	C	A	62594857	3	1	104	1	0	0	0	0	1	0	0	0	15347	913	32	5	789	5	STX5	11	62594857	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	30165	62594857	72411659	4209	70823											
SLC22A9	114571	broad.mit.edu	37	chr11	63137605	63137605	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagactgtttttctctcaaTctttgctgttgctacatacc	5	11	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:63137605T>G	uc001nww.2	+	1	345	c.77T>G	c.(76-78)ATC>AGC	p.I26S	SLC22A9_uc001nwx.2_RNA	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion/cation	26	Helical; (Potential).				transmembrane transport	integral to membrane				breast(2)|large_intestine(1)	3						TTTCTCTCAATCTTTGCTGTT	0.483													G	63137605	T	G	63137605	3	3	104	1	0	0	0	0	1	0	0	0	14461	1435	50	5	79	5	SLC22A9	11	63137605	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	542748	63137605	71868911	4210	70824											
RARRES3	5920	broad.mit.edu	37	chr11	63313629	63313629	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgctttgcaggtggaaaaGgccaaggttgaagttggtgt	15	5	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:63313629G>A	uc001nxf.3	+	4	464	c.396G>A	c.(394-396)AAG>AAA	p.K132K		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene	132					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			ovary(1)	1						AGGTGGAAAAGGCCAAGGTTG	0.542													A	63313629	G	A	63313629	2	1	104	1	0	0	0	0	0	0	0	1	13057	991	35	4		4	RARRES3	11	63313629	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	176024	63313629	71692887	4211	70825											
RTN3	10313	broad.mit.edu	37	chr11	63487738	63487738	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttcaaaagtacccgatacGaatgtctccttagaagatgt	8	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:63487738G>A	uc001nxq.2	+	3	1951	c.1764G>A	c.(1762-1764)ACG>ACA	p.T588T	RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Silent_p.T569T|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Silent_p.T476T|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	588					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1						TACCCGATACGAATGTCTCCT	0.428													A	63487738	G	A	63487738	2	1	104	1	0	0	0	0	0	0	0	1	13727	1045	37	1		1	RTN3	11	63487738	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	174109	63487738	71518778	4212	70826											
STIP1	10963	broad.mit.edu	37	chr11	63961954	63961954	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcctttatttggacagagaGaaaattcatgaaccctttca	6	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:63961954G>T	uc001nyk.1	+	4	512	c.365G>T	c.(364-366)AGA>ATA	p.R122I	STIP1_uc001nyj.2_Missense_Mutation_p.R122I|STIP1_uc010rnb.1_Missense_Mutation_p.R98I	NM_006819	NP_006810	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	122					axon guidance|response to stress	Golgi apparatus|nucleus				ovary(2)|liver(1)	3						TGGACAGAGAGAAAATTCATG	0.443													T	63961954	G	T	63961954	3	4	104	1	0	0	0	0	1	0	0	0	15284	942	33	5	379	5	STIP1	11	63961954	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	474216	63961954	71044562	4213	70827											
PLCB3	5331	broad.mit.edu	37	chr11	64029069	64029069	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taagagaggaacaaatgcttCgagatgtcgtcctttgtgga	12	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:64029069C>T	uc001nzb.2	+	16	1845	c.1845C>T	c.(1843-1845)TTC>TTT	p.F615F	PLCB3_uc009ypg.1_Silent_p.F615F|PLCB3_uc009yph.1_Silent_p.F548F|PLCB3_uc009ypi.2_Silent_p.F615F	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	615	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						ACAAATGCTTCGAGATGTCGT	0.592													T	64029069	C	T	64029069	2	4	104	1	0	0	0	0	0	0	0	1	12029	883	31	1		1	PLCB3	11	64029069	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	67115	64029069	70977447	4214	70828											
NRXN2	9379	broad.mit.edu	37	chr11	64398002	64398002	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggctcgtcgatggtaatgTcgtccgtgcccacgttaaag	13	10	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:64398002T>C	uc001oap.2	-	4	1002	c.491A>G	c.(490-492)GAC>GGC	p.D164G	NRXN2_uc001oar.2_Missense_Mutation_p.D1210G|NRXN2_uc001oas.2_Missense_Mutation_p.D1170G|NRXN2_uc001oaq.2_Missense_Mutation_p.D877G	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	164	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						GATGGTAATGTCGTCCGTGCC	0.607													C	64398002	T	C	64398002	3	2	104	1	0	0	0	0	1	0	0	0	10666	1667	58	3	1529	3	NRXN2	11	64398002	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	368933	64398002	70608514	4215	70829											
SF1	7536	broad.mit.edu	37	chr11	64536783	64536783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attctggtcctctggagtctCgataccctgcttcaggatgt	10	11	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:64536783C>T	uc001obb.1	-	7	1068	c.691G>A	c.(691-693)GAG>AAG	p.E231K	SF1_uc010rnm.1_5'Flank|SF1_uc010rnn.1_Missense_Mutation_p.E205K|SF1_uc001oaz.1_Missense_Mutation_p.E356K|SF1_uc001oba.1_Missense_Mutation_p.E231K|SF1_uc001obc.1_Missense_Mutation_p.E231K|SF1_uc001obd.1_Missense_Mutation_p.E231K|SF1_uc001obe.1_Missense_Mutation_p.E116K|SF1_uc010rno.1_Missense_Mutation_p.E116K	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	231					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3						TCTGGAGTCTCGATACCCTGC	0.488													T	64536783	C	T	64536783	3	4	104	1	0	0	0	0	1	0	0	0	14145	893	31	1	1394	1	SF1	11	64536783	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	138781	64536783	70469733	4216	70830											
ZNHIT2	741	broad.mit.edu	37	chr11	64883942	64883942	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggagctcctcaatgagagttCttggggcaggtggcacgggg	18	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:64883942C>A	uc001ocw.2	-	1	1229	c.1184G>T	c.(1183-1185)AGA>ATA	p.R395I	uc009yqb.1_5'UTR	NM_014205	NP_055020	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT domain containing 2	395							metal ion binding			breast(1)	1						AATGAGAGTTCTTGGGGCAGG	0.597													A	64883942	C	A	64883942	3	1	104	1	0	0	0	0	1	0	0	0	18204	913	32	5	31	5	ZNHIT2	11	64883942	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	347159	64883942	70122574	4217	70831											
POLA2	23649	broad.mit.edu	37	chr11	65046230	65046230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcccagaaatacaactcacGaagtaaccgaggagaagtgg	10	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:65046230G>A	uc001odj.2	+	6	833	c.491G>A	c.(490-492)CGA>CAA	p.R164Q	POLA2_uc009yqf.1_Missense_Mutation_p.R164Q|POLA2_uc010rod.1_5'UTR|POLA2_uc001odk.2_5'Flank	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	DNA-directed DNA polymerase alpha 2	164					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)	TACAACTCACGAAGTAACCGA	0.448													A	65046230	G	A	65046230	3	1	104	1	0	0	0	0	1	0	0	0	12188	1058	37	1	513	1	POLA2	11	65046230	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	162288	65046230	69960286	4218	70832											
DPF2	5977	broad.mit.edu	37	chr11	65109022	65109022	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtttcctgtgaccaacagtCgagcgcgaaaggtacaggat	12	9	0	1	rs139955640		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:65109022C>T	uc001odm.2	+	4	466	c.454C>T	c.(454-456)CGA>TGA	p.R152*	DPF2_uc001odn.2_Nonsense_Mutation_p.R152*|DPF2_uc010roe.1_Nonsense_Mutation_p.R152*	NM_006268	NP_006259	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	152					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						GACCAACAGTCGAGCGCGAAA	0.552													T	65109022	C	T	65109022	4	4	104	1	0	0	0	0	0	1	0	0	4717	876	31	1	468	1	DPF2	11	65109022	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	62792	65109022	69897494	4219	70833											
EHBP1L1	254102	broad.mit.edu	37	chr11	65350612	65350612	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagatattggggacccaagaGatagcatctaggagttcagg	14	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:65350612G>T	uc001oeo.3	+	9	2734	c.2469G>T	c.(2467-2469)GAG>GAT	p.E823D	EHBP1L1_uc001oep.1_Intron	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	823	Glu-rich.									central_nervous_system(1)	1						GGACCCAAGAGATAGCATCTA	0.567													T	65350612	G	T	65350612	3	4	104	1	0	0	0	0	1	0	0	0	4976	933	33	5	2503	5	EHBP1L1	11	65350612	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	241590	65350612	69655904	4220	70834											
MAP3K11	4296	broad.mit.edu	37	chr11	65380788	65380788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctcatcggggtcctggCgagctgccttcacagccacc	11	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:65380788C>T	uc001oew.2	-	1	933	c.440G>A	c.(439-441)CGC>CAC	p.R147H	MAP3K11_uc010rol.1_5'Flank|PCNXL3_uc001oey.2_5'Flank	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	147	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						GGGGTCCTGGCGAGCTGCCTT	0.632													T	65380788	C	T	65380788	3	4	104	1	0	0	0	0	1	0	0	0	9245	768	27	1	2143	1	MAP3K11	11	65380788	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	30176	65380788	69625728	4221	70835											
SART1	9092	broad.mit.edu	37	chr11	65745317	65745317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaggacggctacaaacccGacgttaagatcgaatacgtg	11	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:65745317G>A	uc001ogl.2	+	17	2211	c.2119G>A	c.(2119-2121)GAC>AAC	p.D707N		NM_005146	NP_005137	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T	707					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				ovary(1)	1						CTACAAACCCGACGTTAAGAT	0.602													A	65745317	G	A	65745317	3	1	104	1	0	0	0	0	1	0	0	0	13846	1058	37	1	2185	1	SART1	11	65745317	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	364529	65745317	69261199	4222	70836											
SF3B2	10992	broad.mit.edu	37	chr11	65826323	65826323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaccggaagcgtaggaaccGaaagaagaagaaaaagcccc	11	9	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:65826323G>A	uc001ogy.1	+	10	1029	c.989G>A	c.(988-990)CGA>CAA	p.R330Q		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	330					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						CGTAGGAACCGAAAGAAGAAG	0.587													A	65826323	G	A	65826323	3	1	104	1	0	0	0	0	1	0	0	0	14151	1058	37	1	1027	1	SF3B2	11	65826323	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	81006	65826323	69180193	4223	70837											
SF3B2	10992	broad.mit.edu	37	chr11	65830545	65830545	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggatgagactgggaaaccGctctatggggacgtgtttgg	17	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:65830545G>A	uc001ogy.1	+	17	2083	c.2043G>A	c.(2041-2043)CCG>CCA	p.P681P		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	681					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						CTGGGAAACCGCTCTATGGGG	0.478													A	65830545	G	A	65830545	2	1	104	1	0	0	0	0	0	0	0	1	14151	1074	38	1		1	SF3B2	11	65830545	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4222	65830545	69175971	4224	70838											
SLC29A2	3177	broad.mit.edu	37	chr11	66136541	66136541	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgctcacagttgatgaaGcagacggaggccatggtgat	15	7	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:66136541G>A	uc001oht.2	-	4	634	c.405C>T	c.(403-405)TGC>TGT	p.C135C	SLC29A2_uc001ohs.2_Silent_p.C15C|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Silent_p.C15C|SLC29A2_uc001ohu.2_Silent_p.C135C|SLC29A2_uc001ohv.2_Silent_p.C135C|uc001ohw.1_RNA	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	135	Helical; (Potential).				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1						AGTTGATGAAGCAGACGGAGG	0.582													A	66136541	G	A	66136541	2	1	104	1	0	0	0	0	0	0	0	1	14535	963	34	2		2	SLC29A2	11	66136541	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	305996	66136541	68869975	4225	70839											
NPAS4	266743	broad.mit.edu	37	chr11	66192494	66192494	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagagacgcccgtggaAgacatcttcatggatctctc	11	11	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:66192494A>C	uc001ohx.1	+	7	2309	c.2133A>C	c.(2131-2133)GAA>GAC	p.E711D	NPAS4_uc010rpc.1_Missense_Mutation_p.E501D	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	711					transcription, DNA-dependent		DNA binding|signal transducer activity				0						CGCCCGTGGAAGACATCTTCA	0.602													C	66192494	A	C	66192494	3	2	104	1	0	0	0	0	1	0	0	0	10565	69	3	5	2159	5	NPAS4	11	66192494	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	55953	66192494	68814022	4226	70840											
CTSF	8722	broad.mit.edu	37	chr11	66334775	66334775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagttcttgaagattgaagcCatcttcacaggcaagtcctg	9	9	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:66334775C>T	uc001oip.2	-	4	639	c.549G>A	c.(547-549)ATG>ATA	p.M183I		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	cathepsin F precursor	183					proteolysis	lysosome	cysteine-type endopeptidase activity				0						AGATTGAAGCCATCTTCACAG	0.512													T	66334775	C	T	66334775	3	4	104	1	0	0	0	0	1	0	0	0	4034	594	21	4	945	4	CTSF	11	66334775	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	142281	66334775	68671741	4227	70841											
SPTBN2	6712	broad.mit.edu	37	chr11	66482842	66482842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctccaggcagtggatccGcatgcggccctttgtaggct	13	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:66482842G>A	uc001ojd.2	-	4	406	c.334C>T	c.(334-336)CGG>TGG	p.R112W		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	112	CH 1.|Actin-binding.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CAGTGGATCCGCATGCGGCCC	0.582													A	66482842	G	A	66482842	3	1	104	1	0	0	0	0	1	0	0	0	15119	1086	38	1	6974	1	SPTBN2	11	66482842	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	148067	66482842	68523674	4228	70842											
SYT12	91683	broad.mit.edu	37	chr11	66807670	66807670	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgagcagatcgtgggcatttCtcgggtaagtggggctcagg	17	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:66807670C>A	uc009yrl.2	+	4	847	c.617C>A	c.(616-618)TCT>TAT	p.S206Y	SYT12_uc001oju.2_Missense_Mutation_p.S206Y	NM_177963	NP_808878	Q8IV01	SYT12_HUMAN	synaptotagmin XII	206	C2 1.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane				ovary(1)	1						GTGGGCATTTCTCGGGTAAGT	0.662													A	66807670	C	A	66807670	3	1	104	1	0	0	0	0	1	0	0	0	15465	913	32	5	627	5	SYT12	11	66807670	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	324828	66807670	68198846	4229	70843											
CARNS1	57571	broad.mit.edu	37	chr11	67187257	67187257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggccccggcctggccgtgcGaatctgtgctgtggtgtgtc	16	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:67187257G>A	uc009yrp.2	+	6	1144	c.692G>A	c.(691-693)CGA>CAA	p.R231Q	PPP1CA_uc001okx.1_Intron|CARNS1_uc010rpr.1_Missense_Mutation_p.R354Q|CARNS1_uc001olc.3_Missense_Mutation_p.R370Q	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	ATP-grasp domain containing 1	231					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding				0						CTGGCCGTGCGAATCTGTGCT	0.657													A	67187257	G	A	67187257	3	1	104	1	0	0	0	0	1	0	0	0	2656	1058	37	1	1083	1	CARNS1	11	67187257	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	379587	67187257	67819259	4230	70844											
SUV420H1	51111	broad.mit.edu	37	chr11	67926444	67926444	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgctccagccgcttgcaatGatttctcaattttatctttg	6	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:67926444G>T	uc001onm.1	-	11	1625	c.1369C>A	c.(1369-1371)CAT>AAT	p.H457N	SUV420H1_uc009yse.1_Missense_Mutation_p.H43N|SUV420H1_uc001onn.1_Missense_Mutation_p.H285N|SUV420H1_uc009ysf.2_Missense_Mutation_p.H217N	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						CGCTTGCAATGATTTCTCAAT	0.363													T	67926444	G	T	67926444	3	4	104	1	0	0	0	0	1	0	0	0	15411	1290	45	5	1292	5	SUV420H1	11	67926444	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	739187	67926444	67080072	4231	70845											
MTL5	9633	broad.mit.edu	37	chr11	68478501	68478501	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caatgcatttgcaaatagaaGaacacataatttgggcctgg	9	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:68478501G>A	uc001ooc.2	-	9	1315	c.1175C>T	c.(1174-1176)TCT>TTT	p.S392F		NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific isoform	392	CXC 2.				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			ovary(2)|breast(1)	3	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GCAAATAGAAGAACACATAAT	0.343													A	68478501	G	A	68478501	3	1	104	1	0	0	0	0	1	0	0	0	9936	942	33	4	359	4	MTL5	11	68478501	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	552057	68478501	66528015	4232	70846											
MTL5	9633	broad.mit.edu	37	chr11	68512569	68512569	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgtgccccctttcaatTggcatatcacctaaaatgaa	6	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:68512569T>C	uc001ooc.2	-	4	781	c.641A>G	c.(640-642)CAA>CGA	p.Q214R	MTL5_uc001ood.1_Missense_Mutation_p.Q214R|MTL5_uc009ysi.1_Missense_Mutation_p.Q214R	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific isoform	214					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			ovary(2)|breast(1)	3	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CCCTTTCAATTGGCATATCAC	0.303													C	68512569	T	C	68512569	3	2	104	1	0	0	0	0	1	0	0	0	9936	1812	63	3	917	3	MTL5	11	68512569	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	34068	68512569	66493947	4233	70847											
CPT1A	1374	broad.mit.edu	37	chr11	68579981	68579981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtacatcgttgtcatcaCgcccaccaccacgataagcc	8	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:68579981C>T	uc001oog.3	-	3	375	c.205G>A	c.(205-207)GTG>ATG	p.V69M	CPT1A_uc001oof.3_Missense_Mutation_p.V69M|CPT1A_uc009ysj.2_Missense_Mutation_p.V69M	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	69	Helical; (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GTTGTCATCACGCCCACCACC	0.537													T	68579981	C	T	68579981	3	4	104	1	0	0	0	0	1	0	0	0	3831	536	19	1	2224	1	CPT1A	11	68579981	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	67412	68579981	66426535	4234	70848											
MRPL21	219927	broad.mit.edu	37	chr11	68663994	68663994	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtctcaccttctccagtcGaattctctctccacacgcaa	5	16	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:68663994G>A	uc001ooi.2	-	4	410	c.385C>T	c.(385-387)CGA>TGA	p.R129*	MRPL21_uc001ooh.2_Nonsense_Mutation_p.R44*|MRPL21_uc010rqe.1_Nonsense_Mutation_p.R129*	NM_181514	NP_852615	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21 isoform d	129					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTCTCCAGTCGAATTCTCTCT	0.537													A	68663994	G	A	68663994	4	1	104	1	0	0	0	0	0	1	0	0	9787	1066	37	1	248	1	MRPL21	11	68663994	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	84013	68663994	66342522	4235	70849											
IGHMBP2	3508	broad.mit.edu	37	chr11	68676003	68676003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagttttctcccttggcagaGccctgattgctctaaagaag	9	10	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:68676003G>A	uc001ook.1	+	4	553	c.451G>A	c.(451-453)GCC>ACC	p.A151T	IGHMBP2_uc001ooj.1_RNA	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	151					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTTGGCAGAGCCCTGATTGC	0.522													A	68676003	G	A	68676003	3	1	104	1	0	0	0	0	1	0	0	0	7591	985	34	2	465	2	IGHMBP2	11	68676003	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	12009	68676003	66330513	4236	70850											
MRGPRD	116512	broad.mit.edu	37	chr11	68747543	68747543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtctccccaccttccagctCgggctcctcgcgaagcgcct	9	20	1	0	rs140472736		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:68747543C>T	uc010rqf.1	-	1	913	c.913G>A	c.(913-915)GAG>AAG	p.E305K		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	305	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(1)	1			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTTCCAGCTCGGGCTCCTCG	0.677													T	68747543	C	T	68747543	3	4	104	1	0	0	0	0	1	0	0	0	9763	893	31	1	55	1	MRGPRD	11	68747543	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	71540	68747543	66258973	4237	70851											
MYEOV	26579	broad.mit.edu	37	chr11	69063584	69063584	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cactctgcatgaccctggcaGaatcgagctgccctgactat	9	14	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:69063584G>T	uc001oov.2	+	3	1117	c.667G>T	c.(667-669)GAA>TAA	p.E223*	MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Nonsense_Mutation_p.E223*|MYEOV_uc001oow.2_Nonsense_Mutation_p.E165*	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	223											0	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GACCCTGGCAGAATCGAGCTG	0.637													T	69063584	G	T	69063584	4	4	104	1	0	0	0	0	0	1	0	0	10025	943	33	5	673	5	MYEOV	11	69063584	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	316041	69063584	65942932	4238	70852											
ANO1	55107	broad.mit.edu	37	chr11	69978067	69978067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaatatcaccatgtgcccGctttgcgacaagacctgcag	8	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:69978067G>A	uc001opj.2	+	11	1445	c.1140G>A	c.(1138-1140)CCG>CCA	p.P380P	ANO1_uc001opk.1_Silent_p.P352P|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Silent_p.P115P	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	380	Extracellular (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						CCATGTGCCCGCTTTGCGACA	0.602													A	69978067	G	A	69978067	2	1	104	1	0	0	0	0	0	0	0	1	695	1074	38	1		1	ANO1	11	69978067	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	914483	69978067	65028449	4239	70853											
ANO1	55107	broad.mit.edu	37	chr11	70031744	70031744	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcggaaaacaagtacgacatCtccaaggacttctgggccgt	10	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:70031744C>A	uc001opj.2	+	25	2942	c.2637C>A	c.(2635-2637)ATC>ATA	p.I879I	ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Silent_p.I588I|ANO1_uc010rql.1_Silent_p.I53I	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	879	Extracellular (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						AGTACGACATCTCCAAGGACT	0.587													A	70031744	C	A	70031744	2	1	104	1	0	0	0	0	0	0	0	1	695	903	32	5		5	ANO1	11	70031744	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	53677	70031744	64974772	4240	70854											
ANO1	55107	broad.mit.edu	37	chr11	70031792	70031792	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccggctggcgtttgtcatCgtcttccaggtgcggtgggt	16	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:70031792C>T	uc001opj.2	+	25	2990	c.2685C>T	c.(2683-2685)ATC>ATT	p.I895I	ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Silent_p.I604I|ANO1_uc010rql.1_Silent_p.I69I	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	895	Helical; (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						CGTTTGTCATCGTCTTCCAGG	0.557													T	70031792	C	T	70031792	2	4	104	1	0	0	0	0	0	0	0	1	695	874	31	1		1	ANO1	11	70031792	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	48	70031792	64974724	4241	70855											
PPFIA1	8500	broad.mit.edu	37	chr11	70221149	70221149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggccttagatgaaaccttcGacttcagtgcactggcactg	10	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:70221149G>A	uc001opo.2	+	24	3463	c.3265G>A	c.(3265-3267)GAC>AAC	p.D1089N	PPFIA1_uc001opn.1_Missense_Mutation_p.D1089N|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opr.2_Missense_Mutation_p.D228N|PPFIA1_uc001ops.2_Missense_Mutation_p.D128N|uc001opt.1_RNA	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	1089	SAM 3.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGAAACCTTCGACTTCAGTGC	0.488													A	70221149	G	A	70221149	3	1	104	1	0	0	0	0	1	0	0	0	12309	1058	37	1	3355	1	PPFIA1	11	70221149	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	189357	70221149	64785367	4242	70856											
DHCR7	1717	broad.mit.edu	37	chr11	71150111	71150111	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccatcatgtagttgtaaaaGaaattgcctgtgaatttgct	8	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:71150111G>T	uc001oqk.2	-	7	895	c.645C>A	c.(643-645)TTC>TTA	p.F215L	DHCR7_uc001oql.2_Missense_Mutation_p.F215L	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	215					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			ovary(1)|liver(1)	2					NADH(DB00157)	AGTTGTAAAAGAAATTGCCTG	0.443									Smith-Lemli-Opitz_syndrome				T	71150111	G	T	71150111	3	4	104	1	0	0	0	0	1	0	0	0	4477	933	33	5	794	5	DHCR7	11	71150111	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	928962	71150111	63856405	4243	70857											
KRTAP5-8	57830	broad.mit.edu	37	chr11	71249203	71249203	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtgtgcccatctgctgCtgcaagcccgtgtgctgctg	13	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:71249203C>T	uc001oqr.1	+	1	133	c.102C>T	c.(100-102)TGC>TGT	p.C34C		NM_021046	NP_066384	O75690	KRA58_HUMAN	keratin associated protein 5-8	34	2.|9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis				0						CCATCTGCTGCTGCAAGCCCG	0.687													T	71249203	C	T	71249203	2	4	104	1	0	0	0	0	0	0	0	1	8567	805	28	2		2	KRTAP5-8	11	71249203	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	99092	71249203	63757313	4244	70858											
NUMA1	4926	broad.mit.edu	37	chr11	71720125	71720125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagccgttcagcttcagctCgcagctctttgttttccttc	7	15	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:71720125C>T	uc001orl.1	-	19	5118	c.4946G>A	c.(4945-4947)CGA>CAA	p.R1649Q	NUMA1_uc001orj.2_5'Flank|NUMA1_uc009ysw.1_Missense_Mutation_p.R1198Q|NUMA1_uc001ork.1_Missense_Mutation_p.R513Q|NUMA1_uc001orm.1_Missense_Mutation_p.R1635Q|NUMA1_uc001orn.2_Missense_Mutation_p.R1212Q	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1649	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						AGCTTCAGCTCGCAGCTCTTT	0.577			T	RARA	APL								T	71720125	C	T	71720125	3	4	104	1	0	0	0	0	1	0	0	0	10750	884	31	1	1437	1	NUMA1	11	71720125	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	470922	71720125	63286391	4245	70859											
NUMA1	4926	broad.mit.edu	37	chr11	71726580	71726580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggctgtctcaacacaggCctggagttcctccaccttcc	10	16	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:71726580C>T	uc001orl.1	-	15	2141	c.1969G>A	c.(1969-1971)GCC>ACC	p.A657T	NUMA1_uc009ysw.1_Missense_Mutation_p.A220T|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.A657T|NUMA1_uc001orn.2_Missense_Mutation_p.A220T|NUMA1_uc009ysx.1_Missense_Mutation_p.A657T|NUMA1_uc001oro.1_Missense_Mutation_p.A657T	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	657	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						TCAACACAGGCCTGGAGTTCC	0.602			T	RARA	APL								T	71726580	C	T	71726580	3	4	104	1	0	0	0	0	1	0	0	0	10750	739	26	2	4430	2	NUMA1	11	71726580	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	6455	71726580	63279936	4246	70860											
FOLR3	2352	broad.mit.edu	37	chr11	71847003	71847003	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctggcaggaatagatggAcatggcctggcagatgatgc	14	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:71847003A>G	uc001ory.1	+	2	55	c.5A>G	c.(4-6)GAC>GGC	p.D2G	FOLR3_uc001orx.1_Missense_Mutation_p.D2G			P41439	FOLR3_HUMAN	SubName: Full=FOLR3 protein; Flags: Fragment;	Error:Variant_position_missing_in_P41439_after_alignment					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity				0					Folic Acid(DB00158)	GAATAGATGGACATGGCCTGG	0.602													G	71847003	A	G	71847003	3	3	104	1	0	0	0	0	1	0	0	0	5983	275	10	3	7	3	FOLR3	11	71847003	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	120423	71847003	63159513	4247	70861											
PDE2A	5138	broad.mit.edu	37	chr11	72290417	72290417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcatcagatccagcatgCgctgatagtcctgaggcgag	12	13	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:72290417C>T	uc010rrc.1	-	27	2510	c.2267G>A	c.(2266-2268)CGC>CAC	p.R756H	PDE2A_uc001oso.2_Missense_Mutation_p.R735H|PDE2A_uc010rra.1_Missense_Mutation_p.R749H|PDE2A_uc001osn.2_Missense_Mutation_p.R500H|PDE2A_uc010rrb.1_Missense_Mutation_p.R747H|PDE2A_uc010rrd.1_Missense_Mutation_p.R641H	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	756	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	ATCCAGCATGCGCTGATAGTC	0.592													T	72290417	C	T	72290417	3	4	104	1	0	0	0	0	1	0	0	0	11636	768	27	1	578	1	PDE2A	11	72290417	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	443414	72290417	62716099	4248	70862											
PAAF1	80227	broad.mit.edu	37	chr11	73602177	73602177	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagcattcatatttcatgTccaaaggaaaatgcatcttc	5	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:73602177T>C	uc001ouk.1	+	4	247	c.213T>C	c.(211-213)TGT>TGC	p.C71C	PAAF1_uc001oul.1_Silent_p.C54C|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Silent_p.C54C	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	71					interspecies interaction between organisms	proteasome complex	protein binding			ovary(1)|skin(1)	2	Breast(11;7.42e-05)					ATATTTCATGTCCAAAGGAAA	0.289													C	73602177	T	C	73602177	2	2	104	1	0	0	0	0	0	0	0	1	11362	1673	58	3		3	PAAF1	11	73602177	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1311760	73602177	61404339	4249	70863											
C2CD3	26005	broad.mit.edu	37	chr11	73814566	73814566	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttaagttctggtagtgccttAtttggacttgtaggagcaca	11	6	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:73814566A>T	uc001ouu.2	-	14	2417	c.2190T>A	c.(2188-2190)AAT>AAA	p.N730K		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	730						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					GTAGTGCCTTATTTGGACTTG	0.383													T	73814566	A	T	73814566	3	4	104	1	0	0	0	0	1	0	0	0	2154	446	16	5	3773	5	C2CD3	11	73814566	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	212389	73814566	61191950	4250	70864											
RNF169	254225	broad.mit.edu	37	chr11	74521240	74521240	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatttttagctgagagaagaAaagttacaagaggaaaaacc	9	4	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:74521240A>C	uc001ovl.3	+	3	601	c.588A>C	c.(586-588)GAA>GAC	p.E196D	XRRA1_uc001ovm.2_Intron	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	ring finger protein 169	196							zinc ion binding			ovary(1)	1						TGAGAGAAGAAAAGTTACAAG	0.323													C	74521240	A	C	74521240	3	2	104	1	0	0	0	0	1	0	0	0	13460	11	1	5	598	5	RNF169	11	74521240	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	706674	74521240	60485276	4251	70865											
XRRA1	143570	broad.mit.edu	37	chr11	74563045	74563045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactatacctcgtgtatggGccaccagagggttgttatga	12	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:74563045G>A	uc009yub.2	-	13	1561	c.1229C>T	c.(1228-1230)GCC>GTC	p.A410V	XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovn.2_Missense_Mutation_p.A33V|XRRA1_uc001ovo.2_Intron|XRRA1_uc001ovq.3_Intron|XRRA1_uc001ovp.3_Missense_Mutation_p.A135V|XRRA1_uc001ovr.2_Missense_Mutation_p.A33V|XRRA1_uc001ovs.1_Intron	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	410					response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1						TCGTGTATGGGCCACCAGAGG	0.547													A	74563045	G	A	74563045	3	1	104	1	0	0	0	0	1	0	0	0	17458	1203	42	2	1177	2	XRRA1	11	74563045	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	41805	74563045	60443471	4252	70866											
XRRA1	143570	broad.mit.edu	37	chr11	74641361	74641361	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacctagaggcagcaggttTtctgaggcattgatataaat	10	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:74641361T>G	uc009yub.2	-	6	716	c.384A>C	c.(382-384)GAA>GAC	p.E128D	XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovo.2_5'UTR|XRRA1_uc001ovq.3_Missense_Mutation_p.E128D|XRRA1_uc001ovp.3_5'UTR|XRRA1_uc001ovr.2_5'UTR	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	128					response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1						GCAGCAGGTTTTCTGAGGCAT	0.393													G	74641361	T	G	74641361	3	3	104	1	0	0	0	0	1	0	0	0	17458	1838	64	5	2050	5	XRRA1	11	74641361	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	78316	74641361	60365155	4253	70867											
SLCO2B1	11309	broad.mit.edu	37	chr11	74913973	74913973	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaagaagacaagactttGgctgtgggcatccagttcat	11	7	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:74913973G>A	uc001owb.2	+	12	2178	c.1791G>A	c.(1789-1791)TTG>TTA	p.L597L	SLCO2B1_uc010rrq.1_Silent_p.L342L|SLCO2B1_uc010rrr.1_Silent_p.L453L|SLCO2B1_uc010rrs.1_Silent_p.L481L|SLCO2B1_uc001owc.2_Silent_p.L370L|SLCO2B1_uc001owd.2_Silent_p.L575L	NM_007256	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family,	597	Helical; Name=11; (Potential).				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|breast(1)	2					Ergoloid mesylate(DB01049)	ACAAGACTTTGGCTGTGGGCA	0.468													A	74913973	G	A	74913973	2	1	104	1	0	0	0	0	0	0	0	1	14727	1339	47	4		4	SLCO2B1	11	74913973	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	272612	74913973	60092543	4254	70868											
MOGAT2	80168	broad.mit.edu	37	chr11	75439872	75439872	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcttctccttcggggagaatGacctatttgaccagattccc	8	12	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:75439872G>T	uc010rru.1	+	5	688	c.688G>T	c.(688-690)GAC>TAC	p.D230Y	MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.1_Missense_Mutation_p.D148Y	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	230					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			ovary(2)	2	Ovarian(111;0.103)					CGGGGAGAATGACCTATTTGA	0.537													T	75439872	G	T	75439872	3	4	104	1	0	0	0	0	1	0	0	0	9695	1290	45	5	706	5	MOGAT2	11	75439872	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	525899	75439872	59566644	4255	70869											
ACER3	55331	broad.mit.edu	37	chr11	76726121	76726121	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatatttttattgggatttTtattttggaatatagataac	7	1	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:76726121T>G	uc009yum.1	+	8	663	c.559T>G	c.(559-561)TTA>GTA	p.L187V	ACER3_uc010rsg.1_Missense_Mutation_p.L145V|ACER3_uc009yul.1_RNA|ACER3_uc001oxu.2_RNA|ACER3_uc009yun.1_Missense_Mutation_p.L145V|ACER3_uc009yuo.1_Missense_Mutation_p.L92V|ACER3_uc010rsh.1_Missense_Mutation_p.L150V|ACER3_uc010rsi.1_Missense_Mutation_p.L92V|ACER3_uc010rsj.1_Missense_Mutation_p.L92V	NM_018367	NP_060837	Q9NUN7	ACER3_HUMAN	phytoceramidase, alkaline	187	Helical; (Potential).				ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity				0						ATTGGGATTTTTATTTTGGAA	0.303													G	76726121	T	G	76726121	3	3	104	1	0	0	0	0	1	0	0	0	140	1838	64	5	589	5	ACER3	11	76726121	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1286249	76726121	58280395	4256	70870											
MYO7A	4647	broad.mit.edu	37	chr11	76900472	76900472	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccggggctggattctcgtgtCtctctgcgtgggctgtttcg	15	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:76900472C>A	uc001oyb.2	+	28	3859	c.3587C>A	c.(3586-3588)TCT>TAT	p.S1196Y	MYO7A_uc010rsm.1_Missense_Mutation_p.S1185Y|MYO7A_uc001oyc.2_Missense_Mutation_p.S1196Y|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.S407Y	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1196	MyTH4 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						ATTCTCGTGTCTCTCTGCGTG	0.627													A	76900472	C	A	76900472	3	1	104	1	0	0	0	0	1	0	0	0	10082	913	32	5	3727	5	MYO7A	11	76900472	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	174351	76900472	58106044	4257	70871											
PAK1	5058	broad.mit.edu	37	chr11	77090406	77090406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgatatttgatgtctgaaGcaagcgggcccactgctctg	12	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:77090406G>A	uc001oyh.3	-	4	852	c.319C>T	c.(319-321)CTT>TTT	p.L107F	PAK1_uc010rso.1_Missense_Mutation_p.L9F|PAK1_uc001oyg.3_Missense_Mutation_p.L107F|PAK1_uc001oyi.1_Missense_Mutation_p.L107F	NM_002576	NP_002567	Q13153	PAK1_HUMAN	p21-activated kinase 1 isoform 2	107	Autoregulatory region.			L->F: Constitutively active.	apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			skin(2)|stomach(1)|lung(1)	4	all_cancers(14;1.75e-18)					GATGTCTGAAGCAAGCGGGCC	0.488													A	77090406	G	A	77090406	3	1	104	1	0	0	0	0	1	0	0	0	11399	971	34	2	1419	2	PAK1	11	77090406	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	189934	77090406	57916110	4258	70872											
RSF1	51773	broad.mit.edu	37	chr11	77412131	77412131	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attttctgaggcagtggtttCttcttcaggaaccaacttat	8	8	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:77412131C>A	uc001oyn.2	-	6	2263	c.2143G>T	c.(2143-2145)GAA>TAA	p.E715*	RSF1_uc001oym.2_Nonsense_Mutation_p.E463*	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	715					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GCAGTGGTTTCTTCTTCAGGA	0.413													A	77412131	C	A	77412131	4	1	104	1	0	0	0	0	0	1	0	0	13699	922	32	5	2226	5	RSF1	11	77412131	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	321725	77412131	57594385	4259	70873											
RSF1	51773	broad.mit.edu	37	chr11	77412799	77412799	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttttcatacttgttatgacaGaatttaaggactctgttcca	6	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:77412799G>T	uc001oyn.2	-	6	1595	c.1475C>A	c.(1474-1476)TCT>TAT	p.S492Y	RSF1_uc001oym.2_Missense_Mutation_p.S240Y	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	492					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TGTTATGACAGAATTTAAGGA	0.393													T	77412799	G	T	77412799	3	4	104	1	0	0	0	0	1	0	0	0	13699	942	33	5	2894	5	RSF1	11	77412799	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	668	77412799	57593717	4260	70874											
KCTD14	65987	broad.mit.edu	37	chr11	77727688	77727688	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgttaaaatggaattcgtttCttttggtggggtacgtcagg	13	4	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:77727688C>A	uc001oyw.3	-	2	744	c.719G>T	c.(718-720)AGA>ATA	p.R240I		NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	potassium channel tetramerisation domain	240						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			GAATTCGTTTCTTTTGGTGGG	0.453													A	77727688	C	A	77727688	3	1	104	1	0	0	0	0	1	0	0	0	8101	913	32	5	52	5	KCTD14	11	77727688	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	314889	77727688	57278828	4261	70875											
USP35	57558	broad.mit.edu	37	chr11	77911746	77911746	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctctggtcaaggaggactcGaactcggggaccagctgcct	13	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:77911746G>A	uc009yva.1	+	6	1335	c.1089G>A	c.(1087-1089)TCG>TCA	p.S363S	USP35_uc001oze.2_Silent_p.S119S|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_5'UTR|USP35_uc001ozf.2_Silent_p.S94S	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	363					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			AGGAGGACTCGAACTCGGGGA	0.647													A	77911746	G	A	77911746	2	1	104	1	0	0	0	0	0	0	0	1	17063	1045	37	1		1	USP35	11	77911746	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	184058	77911746	57094770	4262	70876											
USP35	57558	broad.mit.edu	37	chr11	77920554	77920554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactcaagcagtccagctcGccctctccgcccgaggagcc	9	18	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:77920554G>A	uc009yva.1	+	10	1899	c.1653G>A	c.(1651-1653)TCG>TCA	p.S551S	USP35_uc001oze.2_Silent_p.S307S|USP35_uc001ozc.2_Silent_p.S119S|USP35_uc010rsp.1_5'UTR|USP35_uc001ozd.2_Silent_p.S162S|USP35_uc001ozf.2_Silent_p.S282S	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	551					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			AGTCCAGCTCGCCCTCTCCGC	0.572													A	77920554	G	A	77920554	2	1	104	1	0	0	0	0	0	0	0	1	17063	1074	38	1		1	USP35	11	77920554	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	8808	77920554	57085962	4263	70877											
ODZ4	26011	broad.mit.edu	37	chr11	78369748	78369748	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctggatgcaaacttcttggtCtttggagcctgctggcagct	12	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:78369748C>A	uc001ozl.3	-	34	8128	c.7665G>T	c.(7663-7665)AAG>AAT	p.K2555N	ODZ4_uc001ozk.3_Missense_Mutation_p.K780N|ODZ4_uc009yvb.1_Intron	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2555	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						ACTTCTTGGTCTTTGGAGCCT	0.522													A	78369748	C	A	78369748	3	1	104	1	0	0	0	0	1	0	0	0	10837	912	32	5	648	5	ODZ4	11	78369748	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	449194	78369748	56636768	4264	70878											
ODZ4	26011	broad.mit.edu	37	chr11	78412982	78412982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttccggataaaccgaattCggatgttcccaaggtcggcc	10	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:78412982C>T	uc001ozl.3	-	28	5139	c.4676G>A	c.(4675-4677)CGA>CAA	p.R1559Q	ODZ4_uc009yvb.1_Missense_Mutation_p.R143Q	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1559	NHL 5.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						AAACCGAATTCGGATGTTCCC	0.493													T	78412982	C	T	78412982	3	4	104	1	0	0	0	0	1	0	0	0	10837	884	31	1	3661	1	ODZ4	11	78412982	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	43234	78412982	56593534	4265	70879											
ODZ4	26011	broad.mit.edu	37	chr11	78413045	78413045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacagccaaggaagatgggGtatttaactttgcatccttg	10	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:78413045G>A	uc001ozl.3	-	28	5076	c.4613C>T	c.(4612-4614)ACC>ATC	p.T1538I	ODZ4_uc009yvb.1_Missense_Mutation_p.T122I	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1538	NHL 5.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GGAAGATGGGGTATTTAACTT	0.502													A	78413045	G	A	78413045	3	1	104	1	0	0	0	0	1	0	0	0	10837	1261	44	4	3724	4	ODZ4	11	78413045	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	63	78413045	56593471	4266	70880											
ODZ4	26011	broad.mit.edu	37	chr11	78440647	78440647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctgctcaggtagctcagCctcatcttgcagccagagat	11	13	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:78440647C>T	uc001ozl.3	-	22	3643	c.3180G>A	c.(3178-3180)AGG>AGA	p.R1060R		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1060	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GGTAGCTCAGCCTCATCTTGC	0.567													T	78440647	C	T	78440647	2	4	104	1	0	0	0	0	0	0	0	1	10837	738	26	2		2	ODZ4	11	78440647	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	27602	78440647	56565869	4267	70881											
PCF11	51585	broad.mit.edu	37	chr11	82878277	82878277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccaaagcagcaacagcatcGattaagtgtagatgccaatc	8	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:82878277G>A	uc001ozx.3	+	6	2273	c.1928G>A	c.(1927-1929)CGA>CAA	p.R643Q	PCF11_uc010rsu.1_Missense_Mutation_p.R643Q	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	643					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						CAACAGCATCGATTAAGTGTA	0.403													A	82878277	G	A	82878277	3	1	104	1	0	0	0	0	1	0	0	0	11573	1058	37	1	1950	1	PCF11	11	82878277	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4437630	82878277	52128239	4268	70882											
ANKRD42	338699	broad.mit.edu	37	chr11	82936079	82936079	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggctgagtatgaaggaaaaGacctagaggatcaggaaagt	15	4	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:82936079G>T	uc001ozz.1	+	6	1107	c.685G>T	c.(685-687)GAC>TAC	p.D229Y	ANKRD42_uc010rsv.1_Missense_Mutation_p.D257Y|ANKRD42_uc001paa.2_Missense_Mutation_p.D257Y|ANKRD42_uc001pab.1_Missense_Mutation_p.D256Y	NM_182603	NP_872409	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	229	ANK 6.									skin(1)	1						TGAAGGAAAAGACCTAGAGGA	0.303													T	82936079	G	T	82936079	3	4	104	1	0	0	0	0	1	0	0	0	670	942	33	5	707	5	ANKRD42	11	82936079	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	57802	82936079	52070437	4269	70883											
DLG2	1740	broad.mit.edu	37	chr11	84996399	84996399	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaatgtcacctcataaaaTtcttggatatctgtaaagaa	6	7	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:84996399T>G	uc001pak.2	-	4	363	c.51A>C	c.(49-51)GAA>GAC	p.E17D		NM_001142699	NP_001136171	Q15700	DLG2_HUMAN	chapsyn-110 isoform 1	Error:Variant_position_missing_in_Q15700_after_alignment						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CCTCATAAAATTCTTGGATAT	0.328													G	84996399	T	G	84996399	3	3	104	1	0	0	0	0	1	0	0	0	4555	1490	52	5	3181	5	DLG2	11	84996399	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2060320	84996399	50010117	4270	70884											
TMEM126A	84233	broad.mit.edu	37	chr11	85365183	85365183	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatagcaaacagtctttttCgacgcatcttgaatgtgaca	7	9	3	2	rs121434508	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:85365183C>T	uc001par.2	+	3	259	c.163C>T	c.(163-165)CGA>TGA	p.R55*		NM_032273	NP_115649	Q9H061	T126A_HUMAN	transmembrane protein 126A	55						integral to membrane|mitochondrion				ovary(2)	2		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CAGTCTTTTTCGACGCATCTT	0.408													T	85365183	C	T	85365183	4	4	104	1	0	0	0	0	0	1	0	0	16035	876	31	1	169	1	TMEM126A	11	85365183	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	368784	85365183	49641333	4271	70885											
TMEM135	65084	broad.mit.edu	37	chr11	86947710	86947710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgcatcacagctgccatgTacatgttctttttcaggtat	7	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:86947710T>C	uc001pch.2	+	6	516	c.493T>C	c.(493-495)TAC>CAC	p.Y165H	TMEM135_uc010rtt.1_Missense_Mutation_p.Y26H|TMEM135_uc001pci.2_Missense_Mutation_p.Y143H	NM_022918	NP_075069	Q86UB9	TM135_HUMAN	transmembrane protein 135	165	Helical; (Potential).					integral to membrane					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGCTGCCATGTACATGTTCTT	0.333													C	86947710	T	C	86947710	3	2	104	1	0	0	0	0	1	0	0	0	16048	1638	57	3	515	3	TMEM135	11	86947710	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1582527	86947710	48058806	4272	70886											
GRM5	2915	broad.mit.edu	37	chr11	88300351	88300351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtggtgaaggcgctgcGcacgtttctctctggtttgg	15	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:88300351G>A	uc001pcq.2	-	7	2700	c.2500C>T	c.(2500-2502)CGC>TGC	p.R834C	GRM5_uc009yvm.2_Missense_Mutation_p.R834C	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	834	Cytoplasmic (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AAGGCGCTGCGCACGTTTCTC	0.572													A	88300351	G	A	88300351	3	1	104	1	0	0	0	0	1	0	0	0	6800	1087	38	1	1150	1	GRM5	11	88300351	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1352641	88300351	46706165	4273	70887											
TYR	7299	broad.mit.edu	37	chr11	88911375	88911375	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtggccttccgtcttttAtaataggacctgccagtgct	10	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:88911375A>G	uc001pcs.2	+	1	336	c.254A>G	c.(253-255)TAT>TGT	p.Y85C		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	85	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TCCGTCTTTTATAATAGGACC	0.507									Oculocutaneous_Albinism				G	88911375	A	G	88911375	3	3	104	1	0	0	0	0	1	0	0	0	16810	449	16	3	256	3	TYR	11	88911375	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	611024	88911375	46095141	4274	70888											
FOLH1B	219595	broad.mit.edu	37	chr11	89405123	89405123	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtattgaccctcagagtggaGcagctgttgttcatgaaact	11	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:89405123G>T	uc001pda.2	+	5	776	c.250G>T	c.(250-252)GCA>TCA	p.A84S		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	84					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6						TCAGAGTGGAGCAGCTGTTGT	0.373													T	89405123	G	T	89405123	3	4	104	1	0	0	0	0	1	0	0	0	5980	971	34	5	260	5	FOLH1B	11	89405123	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	493748	89405123	45601393	4275	70889											
TRIM49	57093	broad.mit.edu	37	chr11	89537423	89537423	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctggcaagagaagccatcTtcttcaaatgaatgttggtt	9	7	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:89537423T>C	uc001pdb.2	-	3	544	c.215A>G	c.(214-216)AAG>AGG	p.K72R		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	ring finger protein 18	72						intracellular	zinc ion binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AGAAGCCATCTTCTTCAAATG	0.443													C	89537423	T	C	89537423	3	2	104	1	0	0	0	0	1	0	0	0	16521	1609	56	3	1167	3	TRIM49	11	89537423	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	132300	89537423	45469093	4276	70890											
FAT3	120114	broad.mit.edu	37	chr11	92086173	92086173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggagcgaatggagagatcGaatctgtttccattgtggct	13	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:92086173G>A	uc001pdj.3	+	1	912	c.895G>A	c.(895-897)GAA>AAA	p.E299K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	299	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGAGAGATCGAATCTGTTTC	0.433										TCGA Ovarian(4;0.039)			A	92086173	G	A	92086173	3	1	104	1	0	0	0	0	1	0	0	0	5691	1059	37	1	897	1	FAT3	11	92086173	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2548750	92086173	42920343	4277	70891											
FAT3	120114	broad.mit.edu	37	chr11	92086393	92086393	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaccccacaagagacactgTccccattagatttgaaaaag	6	12	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:92086393T>C	uc001pdj.3	+	1	1132	c.1115T>C	c.(1114-1116)GTC>GCC	p.V372A		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	372	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGAGACACTGTCCCCATTAGA	0.413										TCGA Ovarian(4;0.039)			C	92086393	T	C	92086393	3	2	104	1	0	0	0	0	1	0	0	0	5691	1667	58	3	1117	3	FAT3	11	92086393	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	220	92086393	42920123	4278	70892											
FAT3	120114	broad.mit.edu	37	chr11	92087946	92087946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggaatcgtttatgtagccGaccagttggaccgggaatcc	12	10	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:92087946G>A	uc001pdj.3	+	1	2685	c.2668G>A	c.(2668-2670)GAC>AAC	p.D890N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	890	Cadherin 8.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTATGTAGCCGACCAGTTGGA	0.433										TCGA Ovarian(4;0.039)			A	92087946	G	A	92087946	3	1	104	1	0	0	0	0	1	0	0	0	5691	1058	37	1	2670	1	FAT3	11	92087946	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1553	92087946	42918570	4279	70893											
FAT3	120114	broad.mit.edu	37	chr11	92507255	92507255	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagaagggtgttgggacaaTtgtcatcgcaaaacctttgg	13	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:92507255T>C	uc001pdj.3	+	6	4261	c.4244T>C	c.(4243-4245)ATT>ACT	p.I1415T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1415	Cadherin 13.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTTGGGACAATTGTCATCGCA	0.423										TCGA Ovarian(4;0.039)			C	92507255	T	C	92507255	3	2	104	1	0	0	0	0	1	0	0	0	5691	1493	52	3	4266	3	FAT3	11	92507255	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	419309	92507255	42499261	4280	70894											
FAT3	120114	broad.mit.edu	37	chr11	92532760	92532760	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taagcccttttatacagcatCtgtcaatgaagacatcagaa	6	9	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:92532760C>A	uc001pdj.3	+	9	6598	c.6581C>A	c.(6580-6582)TCT>TAT	p.S2194Y		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2194	Cadherin 20.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TATACAGCATCTGTCAATGAA	0.438										TCGA Ovarian(4;0.039)			A	92532760	C	A	92532760	3	1	104	1	0	0	0	0	1	0	0	0	5691	913	32	5	6615	5	FAT3	11	92532760	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	25505	92532760	42473756	4281	70895											
FAT3	120114	broad.mit.edu	37	chr11	92577811	92577811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgagcaaggcttgtcactcGattcccacgcgctcatgacc	10	14	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:92577811G>A	uc001pdj.3	+	18	11295	c.11278G>A	c.(11278-11280)GAT>AAT	p.D3760N	FAT3_uc001pdi.3_Missense_Mutation_p.D200N	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3760	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTTGTCACTCGATTCCCACGC	0.532										TCGA Ovarian(4;0.039)			A	92577811	G	A	92577811	3	1	104	1	0	0	0	0	1	0	0	0	5691	1058	37	1	11348	1	FAT3	11	92577811	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	45051	92577811	42428705	4282	70896											
HEPHL1	341208	broad.mit.edu	37	chr11	93800819	93800819	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagggcatcggactgatgtCgtcaacctgttcccagccac	11	13	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:93800819C>T	uc001pep.2	+	5	1123	c.966C>T	c.(964-966)GTC>GTT	p.V322V	uc001pen.1_RNA	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	322	Plastocyanin-like 2.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GGACTGATGTCGTCAACCTGT	0.478													T	93800819	C	T	93800819	2	4	104	1	0	0	0	0	0	0	0	1	7055	871	31	1		1	HEPHL1	11	93800819	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1223008	93800819	41205697	4283	70897											
AMOTL1	154810	broad.mit.edu	37	chr11	94554964	94554964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaacttcagggttactacGacaatgccgacaagctccac	9	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:94554964G>A	uc001pfb.2	+	4	1560	c.1390G>A	c.(1390-1392)GAC>AAC	p.D464N	AMOTL1_uc001pfc.2_Missense_Mutation_p.D414N	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	464	Potential.					cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GGGTTACTACGACAATGCCGA	0.522													A	94554964	G	A	94554964	3	1	104	1	0	0	0	0	1	0	0	0	583	1058	37	1	1404	1	AMOTL1	11	94554964	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	754145	94554964	40451552	4284	70898											
FAM76B	143684	broad.mit.edu	37	chr11	95512015	95512015	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttttctaaaatggtctggtCtctctgctgtaagagacgct	9	8	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:95512015C>T	uc001pfn.2	-	8	1111	c.799G>A	c.(799-801)GAC>AAC	p.D267N	FAM76B_uc001pfm.2_RNA	NM_144664	NP_653265	Q5HYJ3	FA76B_HUMAN	hypothetical protein LOC143684	267	Potential.										0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATGGTCTGGTCTCTCTGCTGT	0.358													T	95512015	C	T	95512015	3	4	104	1	0	0	0	0	1	0	0	0	5625	913	32	4	232	4	FAM76B	11	95512015	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	957051	95512015	39494501	4285	70899											
FAM76B	143684	broad.mit.edu	37	chr11	95512122	95512122	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgactgatttatagagctaCtaaaaagaaaaaagtaaaac	6	5	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:95512122C>T	uc001pfn.2	-	8	1005	c.693_splice	c.e8-1	p.S231_splice	FAM76B_uc001pfm.2_Splice_Site	NM_144664	NP_653265	Q5HYJ3	FA76B_HUMAN	hypothetical protein LOC143684												0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TATAGAGCTACTAAAAAGAAA	0.338													T	95512122	C	T	95512122	5	4	104	1	0	0	0	0	0	0	1	0	5625	579	20	4	339	4	FAM76B	11	95512122	Splice_Site	SNP	C	TCGA-BR-8680-01A-11D-2394-08	107	95512122	39494394	4286	70900											
FAM76B	143684	broad.mit.edu	37	chr11	95516362	95516362	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcccaggctcttcctttgttCtttcgtcttctgtaaaactc	5	13	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:95516362C>A	uc001pfn.2	-	5	742	c.430G>T	c.(430-432)GAA>TAA	p.E144*	FAM76B_uc001pfm.2_RNA	NM_144664	NP_653265	Q5HYJ3	FA76B_HUMAN	hypothetical protein LOC143684	144											0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCCTTTGTTCTTTCGTCTTC	0.313													A	95516362	C	A	95516362	4	1	104	1	0	0	0	0	0	1	0	0	5625	922	32	5	613	5	FAM76B	11	95516362	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4240	95516362	39490154	4287	70901											
PGR	5241	broad.mit.edu	37	chr11	100922293	100922293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcatcaatatgtaagtttCgaaaacctacaaaacaaatt	5	7	2	0	rs149186732	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:100922293C>T	uc001pgh.2	-	5	2962	c.2219G>A	c.(2218-2220)CGA>CAA	p.R740Q	PGR_uc001pgg.2_Missense_Mutation_p.R121Q|PGR_uc001pgi.2_Missense_Mutation_p.R638Q|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	740	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.R740Q(1)		lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	ATGTAAGTTTCGAAAACCTAC	0.328													T	100922293	C	T	100922293	3	4	104	1	0	0	0	0	1	0	0	0	11805	884	31	1	598	1	PGR	11	100922293	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5405931	100922293	34084223	4288	70902											
KIAA1377	57562	broad.mit.edu	37	chr11	101832555	101832555	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggctacagagcatgaagaAatatatttaacacttaataa	7	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:101832555A>C	uc001pgm.2	+	6	1059	c.789A>C	c.(787-789)GAA>GAC	p.E263D	KIAA1377_uc001pgn.2_Missense_Mutation_p.E219D|KIAA1377_uc010run.1_Missense_Mutation_p.E64D|KIAA1377_uc009yxa.1_Missense_Mutation_p.E64D	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	263							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AGCATGAAGAAATATATTTAA	0.368													C	101832555	A	C	101832555	3	2	104	1	0	0	0	0	1	0	0	0	8227	11	1	5	811	5	KIAA1377	11	101832555	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	910262	101832555	33173961	4289	70903											
KIAA1377	57562	broad.mit.edu	37	chr11	101863564	101863564	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatactttacaaataatAccacttctggtaagtatttg	4	6	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:101863564A>G	uc001pgm.2	+	10	3570	c.3300A>G	c.(3298-3300)ATA>ATG	p.I1100M	KIAA1377_uc001pgn.2_Missense_Mutation_p.I1056M|KIAA1377_uc010run.1_Missense_Mutation_p.I901M	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	1100							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TACAAATAATACCACTTCTGG	0.269													G	101863564	A	G	101863564	3	3	104	1	0	0	0	0	1	0	0	0	8227	381	14	3	3338	3	KIAA1377	11	101863564	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	31009	101863564	33142952	4290	70904											
MMP8	4317	broad.mit.edu	37	chr11	102589167	102589167	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagatggcctgaatgccatcGatgtcatcttgagggagtga	13	7	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:102589167G>A	uc001phe.2	-	5	861	c.762C>T	c.(760-762)ATC>ATT	p.I254I	MMP8_uc010rut.1_Silent_p.I189I|MMP8_uc010ruu.1_Silent_p.I231I	NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	254					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		GAATGCCATCGATGTCATCTT	0.483													A	102589167	G	A	102589167	2	1	104	1	0	0	0	0	0	0	0	1	9668	1048	37	1		1	MMP8	11	102589167	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	725603	102589167	32417349	4291	70905											
MMP8	4317	broad.mit.edu	37	chr11	102592161	102592161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggtccatgtttcttcgGcatcaaaatgagcatctcct	8	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:102592161G>A	uc001phe.2	-	4	692	c.593C>T	c.(592-594)GCC>GTC	p.A198V	MMP8_uc010rut.1_Missense_Mutation_p.A133V|MMP8_uc010ruu.1_Missense_Mutation_p.A175V	NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	198					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		TGTTTCTTCGGCATCAAAATG	0.408													A	102592161	G	A	102592161	3	1	104	1	0	0	0	0	1	0	0	0	9668	1203	42	2	838	2	MMP8	11	102592161	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2994	102592161	32414355	4292	70906											
MMP10	4319	broad.mit.edu	37	chr11	102650413	102650413	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatttttttaacaatgagatTactgtcctttcttctaaact	4	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:102650413T>C	uc001phg.1	-	2	191	c.169A>G	c.(169-171)AAT>GAT	p.N57D		NM_002425	NP_002416	P09238	MMP10_HUMAN	matrix metalloproteinase 10 preproprotein	57					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		ACAATGAGATTACTGTCCTTT	0.403													C	102650413	T	C	102650413	3	2	104	1	0	0	0	0	1	0	0	0	9649	1754	61	3	1297	3	MMP10	11	102650413	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	58252	102650413	32356103	4293	70907											
DYNC2H1	79659	broad.mit.edu	37	chr11	102986023	102986023	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attatttgaaacaattgcaaGagtatgtgattcataaatgg	8	3	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:102986023G>T	uc001pho.2	+	4	764	c.620G>T	c.(619-621)AGA>ATA	p.R207I	DYNC2H1_uc001phn.1_Missense_Mutation_p.R207I|DYNC2H1_uc009yxe.1_Missense_Mutation_p.R207I	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	207	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACAATTGCAAGAGTATGTGAT	0.308													T	102986023	G	T	102986023	3	4	104	1	0	0	0	0	1	0	0	0	4846	956	33	5	634	5	DYNC2H1	11	102986023	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	335610	102986023	32020493	4294	70908											
DYNC2H1	79659	broad.mit.edu	37	chr11	103070011	103070011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagacattttacttttccacGaagtcttggagtatatgtct	7	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:103070011G>A	uc001pho.2	+	49	8038	c.7894G>A	c.(7894-7896)GAA>AAA	p.E2632K	DYNC2H1_uc001phn.1_Missense_Mutation_p.E2632K|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2632	AAA 4 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACTTTTCCACGAAGTCTTGGA	0.358													A	103070011	G	A	103070011	3	1	104	1	0	0	0	0	1	0	0	0	4846	1059	37	1	8088	1	DYNC2H1	11	103070011	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	83988	103070011	31936505	4295	70909											
DYNC2H1	79659	broad.mit.edu	37	chr11	103086472	103086472	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtatctaaactaaatgAagctaaagctcttgtggatg	10	5	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:103086472A>C	uc001pho.2	+	55	8861	c.8717A>C	c.(8716-8718)GAA>GCA	p.E2906A	DYNC2H1_uc001phn.1_Missense_Mutation_p.E2906A|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2906	Potential.|Stalk (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AAACTAAATGAAGCTAAAGCT	0.343													C	103086472	A	C	103086472	3	2	104	1	0	0	0	0	1	0	0	0	4846	246	9	5	8935	5	DYNC2H1	11	103086472	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	16461	103086472	31920044	4296	70910											
CASP4	837	broad.mit.edu	37	chr11	104817810	104817810	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actagaaaagagacacttacCttccgaaatacttcctctag	5	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:104817810C>T	uc001pid.1	-	7	1108	c.1035G>A	c.(1033-1035)AAG>AAA	p.K345K	CASP4_uc001pib.1_Silent_p.K289K|CASP4_uc009yxg.1_Silent_p.K254K	NM_001225	NP_001216	P49662	CASP4_HUMAN	caspase 4 isoform alpha precursor	345					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			lung(2)|ovary(1)|skin(1)	4		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		AGACACTTACCTTCCGAAATA	0.388													T	104817810	C	T	104817810	2	4	104	1	0	0	0	0	0	0	0	1	2673	695	24	4		4	CASP4	11	104817810	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1731338	104817810	30188706	4297	70911											
CARD18	59082	broad.mit.edu	37	chr11	105009778	105009778	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacccactgaatggataaaaAttcttctctttttacgcaag	5	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:105009778A>C	uc001pis.2	-	1	35	c.29T>G	c.(28-30)ATT>AGT	p.I10S		NM_021571	NP_067546	P57730	CAR18_HUMAN	ICEBERG caspase-1 inhibitor	12	CARD.				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			ovary(1)|central_nervous_system(1)	2						ATGGATAAAAATTCTTCTCTT	0.393													C	105009778	A	C	105009778	3	2	104	1	0	0	0	0	1	0	0	0	2649	101	4	5	241	5	CARD18	11	105009778	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	191968	105009778	29996738	4298	70912											
GRIA4	2893	broad.mit.edu	37	chr11	105732782	105732782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaagctattatggaaaaaGcaggacaaaatggttggcat	10	6	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:105732782G>A	uc001pix.2	+	5	966	c.520G>A	c.(520-522)GCA>ACA	p.A174T	GRIA4_uc001piu.1_Missense_Mutation_p.A174T|GRIA4_uc001piw.2_Missense_Mutation_p.A174T|GRIA4_uc001piv.2_Missense_Mutation_p.A174T|GRIA4_uc009yxk.1_Missense_Mutation_p.A174T	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	174	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TATGGAAAAAGCAGGACAAAA	0.368													A	105732782	G	A	105732782	3	1	104	1	0	0	0	0	1	0	0	0	6770	971	34	2	534	2	GRIA4	11	105732782	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	723004	105732782	29273734	4299	70913											
GUCY1A2	2977	broad.mit.edu	37	chr11	106810861	106810861	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcatgaaagcatatattaaaGaactcttcaccaaatctttt	3	8	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:106810861G>T	uc001pjg.1	-	4	921	c.531C>A	c.(529-531)TTC>TTA	p.F177L	GUCY1A2_uc010rvo.1_Missense_Mutation_p.F177L|GUCY1A2_uc009yxn.1_Missense_Mutation_p.F177L	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	177					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		ATATATTAAAGAACTCTTCAC	0.338													T	106810861	G	T	106810861	3	4	104	1	0	0	0	0	1	0	0	0	6893	933	33	5	1687	5	GUCY1A2	11	106810861	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1078079	106810861	28195655	4300	70914											
GUCY1A2	2977	broad.mit.edu	37	chr11	106888540	106888540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggttgacccgcctccggCgctgcaccctcctggccccg	11	21	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:106888540C>T	uc001pjg.1	-	1	632	c.242G>A	c.(241-243)CGC>CAC	p.R81H	GUCY1A2_uc010rvo.1_Missense_Mutation_p.R81H|GUCY1A2_uc009yxn.1_Missense_Mutation_p.R81H	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	81					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CCGCCTCCGGCGCTGCACCCT	0.493													T	106888540	C	T	106888540	3	4	104	1	0	0	0	0	1	0	0	0	6893	768	27	1	1988	1	GUCY1A2	11	106888540	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	77679	106888540	28117976	4301	70915											
CUL5	8065	broad.mit.edu	37	chr11	107969212	107969212	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctacagaaaggatgagagaaGaagagaatgaaggaatagtt	13	2	0	6			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:107969212G>T	uc001pjv.2	+	18	2771	c.2104G>T	c.(2104-2106)GAA>TAA	p.E702*	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	702					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		GATGAGAGAAGAAGAGAATGA	0.313													T	107969212	G	T	107969212	4	4	104	1	0	0	0	0	0	1	0	0	4059	943	33	5	2174	5	CUL5	11	107969212	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1080672	107969212	27037304	4302	70916											
ATM	472	broad.mit.edu	37	chr11	108114687	108114687	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttttttttttaagaattgttCtctgtgtacttcaggctcta	6	6	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:108114687C>A	uc001pkb.1	+	6	889	c.504C>A	c.(502-504)TTC>TTA	p.F168L	ATM_uc009yxr.1_Missense_Mutation_p.F168L	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	168					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.F168_V170>L(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		aaGAATTGTTCTCTGTGTACT	0.274			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			A	108114687	C	A	108114687	3	1	104	1	0	0	0	0	1	0	0	0	1109	912	32	5	522	5	ATM	11	108114687	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	145475	108114687	26891829	4303	70917											
ATM	472	broad.mit.edu	37	chr11	108138042	108138042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtagtgttagtgatgcaaacGaacctggagagagccaaagt	13	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:108138042G>A	uc001pkb.1	+	17	2996	c.2611G>A	c.(2611-2613)GAA>AAA	p.E871K	ATM_uc009yxr.1_Missense_Mutation_p.E871K|ATM_uc009yxs.1_5'Flank	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	871					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGATGCAAACGAACCTGGAGA	0.363			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			A	108138042	G	A	108138042	3	1	104	1	0	0	0	0	1	0	0	0	1109	1059	37	1	2673	1	ATM	11	108138042	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	23355	108138042	26868474	4304	70918											
ATM	472	broad.mit.edu	37	chr11	108203492	108203492	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgttttttattaataggatCgaacagaggctgcaaataga	9	4	0	2	rs138941496	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:108203492C>T	uc001pkb.1	+	53	8177	c.7792C>T	c.(7792-7794)CGA>TGA	p.R2598*	ATM_uc009yxr.1_Nonsense_Mutation_p.R2598*|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Nonsense_Mutation_p.R1250*|ATM_uc001pkg.1_Nonsense_Mutation_p.R955*	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2598					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTAATAGGATCGAACAGAGGC	0.323			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			T	108203492	C	T	108203492	4	4	104	1	0	0	0	0	0	1	0	0	1109	876	31	1	7998	1	ATM	11	108203492	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	65450	108203492	26803024	4305	70919											
ATM	472	broad.mit.edu	37	chr11	108213967	108213967	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggttcccctctctcagCgaagtggtgttcttgaatgg	13	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:108213967C>T	uc001pkb.1	+	57	8672	c.8287C>T	c.(8287-8289)CGA>TGA	p.R2763*	ATM_uc009yxr.1_Nonsense_Mutation_p.R2763*|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Nonsense_Mutation_p.R1415*	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2763	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CCTCTCTCAGCGAAGTGGTGT	0.393			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			T	108213967	C	T	108213967	4	4	104	1	0	0	0	0	0	1	0	0	1109	760	27	1	8509	1	ATM	11	108213967	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	10475	108213967	26792549	4306	70920											
ATM	472	broad.mit.edu	37	chr11	108216486	108216486	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaggaggtgcaaaaaaagtCttttgaagagaaatatgaag	11	2	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:108216486C>A	uc001pkb.1	+	58	8820	c.8435C>A	c.(8434-8436)TCT>TAT	p.S2812Y	ATM_uc009yxr.1_Missense_Mutation_p.S2812Y|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.S1464Y	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2812	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CAAAAAAAGTCTTTTGAAGAG	0.259			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			A	108216486	C	A	108216486	3	1	104	1	0	0	0	0	1	0	0	0	1109	913	32	5	8661	5	ATM	11	108216486	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2519	108216486	26790030	4307	70921											
DDX10	1662	broad.mit.edu	37	chr11	108593962	108593962	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggataatgatactggtaatGaagaacaggaagaagaagaa	12	2	0	6			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:108593962G>T	uc001pkm.2	+	13	1803	c.1738G>T	c.(1738-1740)GAA>TAA	p.E580*	DDX10_uc001pkl.1_Nonsense_Mutation_p.E580*	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	580							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|lung(1)|prostate(1)	4		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TACTGGTAATgaagaacagga	0.348			T	NUP98	AML*								T	108593962	G	T	108593962	4	4	104	1	0	0	0	0	0	1	0	0	4342	1291	45	5	1788	5	DDX10	11	108593962	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	377476	108593962	26412554	4308	70922											
ZC3H12C	85463	broad.mit.edu	37	chr11	110007958	110007958	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taatcaatgatattttgggaGaacttgtcaaacttggaaat	8	4	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:110007958G>T	uc009yxw.2	+	2	643	c.592G>T	c.(592-594)GAA>TAA	p.E198*	ZC3H12C_uc010rwc.1_Nonsense_Mutation_p.E199*|ZC3H12C_uc010rwd.1_Nonsense_Mutation_p.E199*|ZC3H12C_uc001pkr.3_Nonsense_Mutation_p.E167*|ZC3H12C_uc001pkq.2_Nonsense_Mutation_p.E167*	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	198							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TATTTTGGGAGAACTTGTCAA	0.368													T	110007958	G	T	110007958	4	4	104	1	0	0	0	0	0	1	0	0	17560	943	33	5	598	5	ZC3H12C	11	110007958	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1413996	110007958	24998558	4309	70923											
ZC3H12C	85463	broad.mit.edu	37	chr11	110035304	110035304	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatccaagcataaggacacaAgtctaccaagacctagaaga	8	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:110035304A>C	uc009yxw.2	+	6	1545	c.1494A>C	c.(1492-1494)CAA>CAC	p.Q498H	ZC3H12C_uc010rwc.1_Missense_Mutation_p.Q499H|ZC3H12C_uc010rwd.1_Missense_Mutation_p.Q499H|ZC3H12C_uc001pkr.3_Missense_Mutation_p.Q467H	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	498							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TAAGGACACAAGTCTACCAAG	0.443													C	110035304	A	C	110035304	3	2	104	1	0	0	0	0	1	0	0	0	17560	69	3	5	1516	5	ZC3H12C	11	110035304	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	27346	110035304	24971212	4310	70924											
FDX1	2230	broad.mit.edu	37	chr11	110333089	110333089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatacagatcacggttggGctgccaaatctgtttgacaa	9	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:110333089G>A	uc001pkx.2	+	4	703	c.452G>A	c.(451-453)GGC>GAC	p.G151D		NM_004109	NP_004100	P10109	ADX_HUMAN	ferredoxin 1 precursor	151	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding				0		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	TCACGGTTGGGCTGCCAAATC	0.408													A	110333089	G	A	110333089	3	1	104	1	0	0	0	0	1	0	0	0	5804	1203	42	2	466	2	FDX1	11	110333089	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	297785	110333089	24673427	4311	70925											
ARHGAP20	57569	broad.mit.edu	37	chr11	110451042	110451042	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctctccatgcaagagAccagcttcacagctggtttt	7	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:110451042A>C	uc001pkz.1	-	16	2913	c.2628T>G	c.(2626-2628)GGT>GGG	p.G876G	ARHGAP20_uc001pky.1_Silent_p.G853G|ARHGAP20_uc009yyb.1_Silent_p.G840G|ARHGAP20_uc001pla.1_Silent_p.G840G|ARHGAP20_uc001plb.2_Silent_p.G419G	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	876					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CATGCAAGAGACCAGCTTCAC	0.468													C	110451042	A	C	110451042	2	2	104	1	0	0	0	0	0	0	0	1	870	262	10	5		5	ARHGAP20	11	110451042	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	117953	110451042	24555474	4312	70926											
C11orf88	399949	broad.mit.edu	37	chr11	111404477	111404477	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttctttaaacaggctaaaAcaagagaagagattctccaa	6	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:111404477A>G	uc001pln.3	+	4	346	c.346A>G	c.(346-348)ACA>GCA	p.T116A	C11orf88_uc009yyd.2_Missense_Mutation_p.T143A|C11orf88_uc001plo.1_Missense_Mutation_p.T143A	NM_001100388	NP_001093858	Q6PI97	CK088_HUMAN	hypothetical protein LOC399949 isoform 2	116											0						ACAGGCTAAAACAAGAGAAGA	0.363													G	111404477	A	G	111404477	3	3	104	1	0	0	0	0	1	0	0	0	1670	43	2	3	445	3	C11orf88	11	111404477	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	953435	111404477	23602039	4313	70927											
PPP2R1B	5519	broad.mit.edu	37	chr11	111624289	111624289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgacatgttgattggtatCggatactaattcctaaaata	7	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:111624289C>T	uc001plx.1	-	9	1126	c.1042G>A	c.(1042-1044)GAT>AAT	p.D348N	PPP2R1B_uc001plw.1_Missense_Mutation_p.D348N|PPP2R1B_uc010rwi.1_Missense_Mutation_p.D284N|PPP2R1B_uc010rwj.1_Missense_Mutation_p.D187N|PPP2R1B_uc010rwk.1_Intron|PPP2R1B_uc010rwl.1_Missense_Mutation_p.D221N	NM_002716	NP_002707	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	348	HEAT 9.						protein binding				0		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TGATTGGTATCGGATACTAAT	0.294													T	111624289	C	T	111624289	3	4	104	1	0	0	0	0	1	0	0	0	12383	884	31	1	1014	1	PPP2R1B	11	111624289	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	219812	111624289	23382227	4314	70928											
FDXACB1	91893	broad.mit.edu	37	chr11	111746444	111746444	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagaggaagtctggtacttcGatgacatcctgaacatgcac	11	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:111746444G>A	uc001pmc.3	-	5	1374	c.1077C>T	c.(1075-1077)ATC>ATT	p.I359I	ALG9_uc010rwo.1_Intron|FDXACB1_uc009yyi.2_Silent_p.I210I	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain	359					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0						CTGGTACTTCGATGACATCCT	0.473													A	111746444	G	A	111746444	2	1	104	1	0	0	0	0	0	0	0	1	5806	1048	37	1		1	FDXACB1	11	111746444	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	122155	111746444	23260072	4315	70929											
BCO2	83875	broad.mit.edu	37	chr11	112064319	112064319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccaacagtgctaaaaaccGaattgtgatctcagaatttg	9	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:112064319G>A	uc001pnf.2	+	3	533	c.416G>A	c.(415-417)CGA>CAA	p.R139Q	BCO2_uc001pne.1_5'UTR|BCO2_uc001png.2_Missense_Mutation_p.R139Q|BCO2_uc001pnh.2_Missense_Mutation_p.R105Q|BCO2_uc010rwt.1_Missense_Mutation_p.R34Q|BCO2_uc009yyn.2_Missense_Mutation_p.R105Q|BCO2_uc001pni.2_Missense_Mutation_p.R105Q	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	139					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GCTAAAAACCGAATTGTGATC	0.463													A	112064319	G	A	112064319	3	1	104	1	0	0	0	0	1	0	0	0	1385	1058	37	1	426	1	BCO2	11	112064319	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	317875	112064319	22942197	4316	70930											
TTC12	54970	broad.mit.edu	37	chr11	113233147	113233147	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggtgttctgagccggAccctttcttcctctctgaaa	9	13	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:113233147A>G	uc001pnu.2	+	19	1744	c.1639A>G	c.(1639-1641)ACC>GCC	p.T547A	TTC12_uc001pnv.2_Missense_Mutation_p.T553A|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.T397A	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	547							binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TCTGAGCCGGACCCTTTCTTC	0.423													G	113233147	A	G	113233147	3	3	104	1	0	0	0	0	1	0	0	0	16676	275	10	3	1709	3	TTC12	11	113233147	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1168828	113233147	21773369	4317	70931											
ZW10	9183	broad.mit.edu	37	chr11	113614686	113614686	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtactgagtattggatActttctgtacttccagtttg	10	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:113614686A>C	uc001poe.2	-	10	1386	c.1349T>G	c.(1348-1350)GTA>GGA	p.V450G	ZW10_uc009yyv.2_RNA	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	450					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AGTATTGGATACTTTCTGTAC	0.388													C	113614686	A	C	113614686	3	2	104	1	0	0	0	0	1	0	0	0	18244	391	14	5	1018	5	ZW10	11	113614686	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	381539	113614686	21391830	4318	70932											
CLDN25	644672	broad.mit.edu	37	chr11	113650908	113650908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttggaggcatccgcttcaGccactaccctccttccagtc	7	17	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:113650908G>A	uc009yyw.1	+	1	391	c.391G>A	c.(391-393)GCC>ACC	p.A131T		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	claudin 25	131	Helical; (Potential).					integral to membrane|tight junction	structural molecule activity				0						ATCCGCTTCAGCCACTACCCT	0.552													A	113650908	G	A	113650908	3	1	104	1	0	0	0	0	1	0	0	0	3485	971	34	2	393	2	CLDN25	11	113650908	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	36222	113650908	21355608	4319	70933											
USP28	57646	broad.mit.edu	37	chr11	113670038	113670038	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggctacataggtcatagggaGaattgggtcgaattgttgga	15	4	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:113670038G>T	uc001poh.2	-	25	3191	c.3158C>A	c.(3157-3159)TCT>TAT	p.S1053Y	USP28_uc001pog.2_Missense_Mutation_p.S729Y|USP28_uc010rwy.1_Missense_Mutation_p.S896Y|USP28_uc001poi.2_Missense_Mutation_p.S376Y	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	1053					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GTCATAGGGAGAATTGGGTCG	0.463													T	113670038	G	T	113670038	3	4	104	1	0	0	0	0	1	0	0	0	17055	942	33	5	79	5	USP28	11	113670038	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	19130	113670038	21336478	4320	70934											
HTR3A	3359	broad.mit.edu	37	chr11	113846067	113846067	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgctgctgtgggtccagcAggcgctgctcgccttgctcc	13	14	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:113846067A>C	uc010rxb.1	+	1	271	c.38A>C	c.(37-39)CAG>CCG	p.Q13P	HTR3A_uc010rxa.1_Missense_Mutation_p.Q13P|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_5'Flank	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	7					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TGGGTCCAGCAGGCGCTGCTC	0.627													C	113846067	A	C	113846067	3	2	104	1	0	0	0	0	1	0	0	0	7444	188	7	5	40	5	HTR3A	11	113846067	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	176029	113846067	21160449	4321	70935											
REXO2	25996	broad.mit.edu	37	chr11	114320615	114320615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaagagcttcagttttaccGaaataacatcttcaagaaaa	5	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:114320615G>A	uc001poy.2	+	7	775	c.632G>A	c.(631-633)CGA>CAA	p.R211Q	REXO2_uc001poz.2_3'UTR	NM_015523	NP_056338	Q9Y3B8	ORN_HUMAN	small fragment nuclease precursor	211					nucleotide metabolic process	mitochondrion|nucleus	3'-5' exonuclease activity|nucleic acid binding				0		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		CAGTTTTACCGAAATAACATC	0.358													A	114320615	G	A	114320615	3	1	104	1	0	0	0	0	1	0	0	0	13242	1058	37	1	658	1	REXO2	11	114320615	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	474548	114320615	20685901	4322	70936											
CADM1	23705	broad.mit.edu	37	chr11	115085387	115085387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgtttgaagcttcacagCggtatgtaccattatctgtt	8	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:115085387C>T	uc001ppi.3	-	7	1064	c.935G>A	c.(934-936)CGC>CAC	p.R312H	CADM1_uc001ppf.3_Missense_Mutation_p.R312H|CADM1_uc001ppk.3_Missense_Mutation_p.R312H|CADM1_uc001ppj.3_Missense_Mutation_p.R312H|CADM1_uc001ppl.2_Missense_Mutation_p.R312H|CADM1_uc001pph.3_Missense_Mutation_p.R64H	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	312	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			ovary(2)	2	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		AGCTTCACAGCGGTATGTACC	0.433													T	115085387	C	T	115085387	3	4	104	1	0	0	0	0	1	0	0	0	2566	768	27	1	409	1	CADM1	11	115085387	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	764772	115085387	19921129	4323	70937											
ZNF259	8882	broad.mit.edu	37	chr11	116653694	116653694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacttgcccccgaggactgCcattcccagttcaaattcta	7	14	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:116653694C>T	uc001ppp.2	-	11	1066	c.1033G>A	c.(1033-1035)GCA>ACA	p.A345T	ZNF259_uc009yzd.2_Missense_Mutation_p.A345T|ZNF259_uc001ppq.2_Missense_Mutation_p.A275T	NM_003904	NP_003895	O75312	ZPR1_HUMAN	zinc finger protein 259	345					cell proliferation|signal transduction	cytoplasm|nucleolus					0	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CCGAGGACTGCCATTCCCAGT	0.473													T	116653694	C	T	116653694	3	4	104	1	0	0	0	0	1	0	0	0	17798	739	26	2	362	2	ZNF259	11	116653694	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1568307	116653694	18352822	4324	70938											
APOA5	116519	broad.mit.edu	37	chr11	116661297	116661297	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgcggggctggcgggggcGtgcggagccacactgcggtg	22	12	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:116661297G>A	uc001ppr.2	-	3	656	c.648C>T	c.(646-648)CAC>CAT	p.H216H	ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Silent_p.H216H|APOA5_uc009yzf.2_Silent_p.H216H|APOA5_uc009yzg.2_Silent_p.H242H	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN	apolipoprotein AV precursor	216					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding				0	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		TGGCGGGGGCGTGCGGAGCCA	0.697													A	116661297	G	A	116661297	2	1	104	1	0	0	0	0	0	0	0	1	784	1136	40	1		1	APOA5	11	116661297	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	7603	116661297	18345219	4325	70939											
APOA4	337	broad.mit.edu	37	chr11	116692535	116692535	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcggtggcaaagggcaccAgcttcttctgcaggtcacct	12	13	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:116692535A>C	uc001pps.1	-	3	343	c.239T>G	c.(238-240)CTG>CGG	p.L80R		NM_000482	NP_000473			apolipoprotein A-IV precursor												0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		aaagggcaccagcttcttctg	0.199													C	116692535	A	C	116692535	3	2	104	1	0	0	0	0	1	0	0	0	783	188	7	5	955	5	APOA4	11	116692535	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	31238	116692535	18313981	4326	70940											
SIDT2	51092	broad.mit.edu	37	chr11	117066741	117066741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttgctgacactggatgacGacctggatactgtgcagcgg	14	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:117066741G>A	uc001pqh.1	+	26	2499	c.2458G>A	c.(2458-2460)GAC>AAC	p.D820N	SIDT2_uc001pqi.1_Missense_Mutation_p.D817N|SIDT2_uc001pqj.1_Missense_Mutation_p.D132N|uc001pqk.1_RNA	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	820	Extracellular (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		ACTGGATGACGACCTGGATAC	0.602													A	117066741	G	A	117066741	3	1	104	1	0	0	0	0	1	0	0	0	14303	1058	37	1	2560	1	SIDT2	11	117066741	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	374206	117066741	17939775	4327	70941											
CEP164	22897	broad.mit.edu	37	chr11	117278689	117278689	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cggccatgcggaaaggccacAacctgctgaagaagaaagag	13	10	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:117278689A>C	uc001prc.2	+	28	3697	c.3550A>C	c.(3550-3552)AAC>CAC	p.N1184H	CEP164_uc001prb.2_Missense_Mutation_p.N1187H|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.N617H	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1184	Potential.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GAAAGGCCACAACCTGCTGAA	0.502													C	117278689	A	C	117278689	3	2	104	1	0	0	0	0	1	0	0	0	3249	130	5	5	3652	5	CEP164	11	117278689	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	211948	117278689	17727827	4328	70942											
DSCAML1	57453	broad.mit.edu	37	chr11	117307845	117307845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgcgactcactgccatcGtagtccagggtggcgaactg	12	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:117307845G>A	uc001prh.1	-	26	4895	c.4893C>T	c.(4891-4893)TAC>TAT	p.Y1631Y		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1571	Extracellular (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACTGCCATCGTAGTCCAGGG	0.592													A	117307845	G	A	117307845	2	1	104	1	0	0	0	0	0	0	0	1	4769	1140	40	1		1	DSCAML1	11	117307845	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	29156	117307845	17698671	4329	70943											
DSCAML1	57453	broad.mit.edu	37	chr11	117375680	117375680	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgggtggggggtagccgTccaccgagcagttgagcaca	16	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:117375680T>C	uc001prh.1	-	10	2323	c.2321A>G	c.(2320-2322)GAC>GGC	p.D774G		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	714	Extracellular (Potential).|Ig-like C2-type 8.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGGGTAGCCGTCCACCGAGCA	0.602													C	117375680	T	C	117375680	3	2	104	1	0	0	0	0	1	0	0	0	4769	1667	58	3	4116	3	DSCAML1	11	117375680	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	67835	117375680	17630836	4330	70944											
DSCAML1	57453	broad.mit.edu	37	chr11	117387316	117387316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattctcaaacaccacctggCggtggttgtctggcagcagc	11	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:117387316C>T	uc001prh.1	-	8	1831	c.1829G>A	c.(1828-1830)CGC>CAC	p.R610H		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	550	Extracellular (Potential).|Ig-like C2-type 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.R610L(1)		ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACCACCTGGCGGTGGTTGTC	0.592													T	117387316	C	T	117387316	3	4	104	1	0	0	0	0	1	0	0	0	4769	768	27	1	4616	1	DSCAML1	11	117387316	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	11636	117387316	17619200	4331	70945											
TMPRSS13	84000	broad.mit.edu	37	chr11	117779398	117779398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctcatcggtgtaattgCtgttgatgatgatctcggca	10	10	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:117779398C>T	uc001prs.1	-	9	1304	c.1211G>A	c.(1210-1212)AGC>AAC	p.S404N	TMPRSS13_uc009yzr.1_Missense_Mutation_p.S83N|TMPRSS13_uc001prt.1_Missense_Mutation_p.S83N|TMPRSS13_uc001pru.1_Missense_Mutation_p.S404N	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	399	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			pancreas(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GGTGTAATTGCTGTTGATGAT	0.607													T	117779398	C	T	117779398	3	4	104	1	0	0	0	0	1	0	0	0	16242	797	28	2	512	2	TMPRSS13	11	117779398	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	392082	117779398	17227118	4332	70946											
SCN2B	6327	broad.mit.edu	37	chr11	118039303	118039303	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcagcccaggactcaccatCtcctcagagcagttgttgca	8	14	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:118039303C>A	uc001psf.2	-	2	425	c.234G>T	c.(232-234)GAG>GAT	p.E78D		NM_004588	NP_004579	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta	78	Ig-like C2-type.|Extracellular (Potential).				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity				0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		GACTCACCATCTCCTCAGAGC	0.627													A	118039303	C	A	118039303	3	1	104	1	0	0	0	0	1	0	0	0	13917	912	32	5	425	5	SCN2B	11	118039303	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	259905	118039303	16967213	4333	70947											
AMICA1	120425	broad.mit.edu	37	chr11	118074145	118074145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagccaaatgttagatacttCgaggctcttccgggctgaca	10	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:118074145C>T	uc001psk.2	-	6	944	c.770G>A	c.(769-771)CGA>CAA	p.R257Q	AMICA1_uc001psg.2_Missense_Mutation_p.R67Q|AMICA1_uc001psh.2_Missense_Mutation_p.R218Q|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.R247Q|AMICA1_uc001psj.2_Missense_Mutation_p.R246Q|AMICA1_uc010rxw.1_Missense_Mutation_p.R218Q|AMICA1_uc010rxx.1_Missense_Mutation_p.R257Q|AMICA1_uc001psl.1_Missense_Mutation_p.R213Q	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen	257	Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				ovary(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TTAGATACTTCGAGGCTCTTC	0.418													T	118074145	C	T	118074145	3	4	104	1	0	0	0	0	1	0	0	0	574	884	31	1	434	1	AMICA1	11	118074145	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	34842	118074145	16932371	4334	70948											
MLL	4297	broad.mit.edu	37	chr11	118352757	118352757	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaagaaaagaagttcccaAaaccactcctagtgagccca	7	13	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:118352757A>C	uc001pta.2	+	7	3985	c.3962A>C	c.(3961-3963)AAA>ACA	p.K1321T	MLL_uc001ptb.2_Missense_Mutation_p.K1321T|MLL_uc001pte.1_RNA|MLL_uc009zab.1_Missense_Mutation_p.K47Q	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1321					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GAAGTTCCCAAAACCACTCCT	0.522			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								C	118352757	A	C	118352757	3	2	104	1	0	0	0	0	1	0	0	0	9620	14	1	5	3988	5	MLL	11	118352757	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	278612	118352757	16653759	4335	70949											
ARCN1	372	broad.mit.edu	37	chr11	118452034	118452034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagtttgtggaaatgacccGaactcggattgagggcttat	12	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:118452034G>A	uc001ptq.2	+	2	238	c.77G>A	c.(76-78)CGA>CAA	p.R26Q	ARCN1_uc009zah.2_Missense_Mutation_p.R26Q|ARCN1_uc010ryg.1_Intron|ARCN1_uc009zag.2_Missense_Mutation_p.R67Q	NM_001655	NP_001646	P48444	COPD_HUMAN	archain isoform 1	26					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GAAATGACCCGAACTCGGATT	0.443													A	118452034	G	A	118452034	3	1	104	1	0	0	0	0	1	0	0	0	842	1058	37	1	83	1	ARCN1	11	118452034	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	99277	118452034	16554482	4336	70950											
PHLDB1	23187	broad.mit.edu	37	chr11	118498939	118498939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtccatctctgtcccggcGagctctctccccgctgccca	8	19	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:118498939G>A	uc001ptr.1	+	7	1753	c.1400G>A	c.(1399-1401)CGA>CAA	p.R467Q	PHLDB1_uc001pts.2_Missense_Mutation_p.R467Q|PHLDB1_uc001ptt.2_Missense_Mutation_p.R467Q|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Missense_Mutation_p.R267Q|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	467											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTGTCCCGGCGAGCTCTCTCC	0.687													A	118498939	G	A	118498939	3	1	104	1	0	0	0	0	1	0	0	0	11851	1058	37	1	1418	1	PHLDB1	11	118498939	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	46905	118498939	16507577	4337	70951											
TREH	11181	broad.mit.edu	37	chr11	118529423	118529423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctcccccaccgggctgtCcaccgttgctgacgtcatac	8	19	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:118529423C>T	uc001pty.1	-	14	1610	c.1565G>A	c.(1564-1566)GGA>GAA	p.G522E	TREH_uc009zaj.1_Missense_Mutation_p.G491E|TREH_uc001ptz.1_Missense_Mutation_p.G399E	NM_007180	NP_009111	O43280	TREA_HUMAN	trehalase precursor	522					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			pancreas(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		ACCGGGCTGTCCACCGTTGCT	0.612													T	118529423	C	T	118529423	3	4	104	1	0	0	0	0	1	0	0	0	16466	855	30	4	193	4	TREH	11	118529423	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	30484	118529423	16477093	4338	70952											
BCL9L	283149	broad.mit.edu	37	chr11	118771988	118771988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgccactgctgttctgggCccgaacccgggccatctcct	10	18	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:118771988C>T	uc001pug.2	-	6	3429	c.2464G>A	c.(2464-2466)GCC>ACC	p.A822T	BCL9L_uc009zal.2_Missense_Mutation_p.A817T	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	822	Met-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CTGTTCTGGGCCCGAACCCGG	0.657													T	118771988	C	T	118771988	3	4	104	1	0	0	0	0	1	0	0	0	1382	739	26	2	2047	2	BCL9L	11	118771988	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	242565	118771988	16234528	4339	70953											
SLC37A4	2542	broad.mit.edu	37	chr11	118895938	118895938	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaatggcgtgggaggtgccAcacaagttgggaggggcact	17	8	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:118895938A>G	uc010rys.1	-	10	1843	c.1086T>C	c.(1084-1086)TGT>TGC	p.C362C	SLC37A4_uc009zam.2_RNA|SLC37A4_uc009zan.2_RNA|SLC37A4_uc010ryr.1_Silent_p.C384C|SLC37A4_uc010ryt.1_Silent_p.C289C|SLC37A4_uc001pus.2_Silent_p.C362C	NM_001164277	NP_001157749	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate	362					glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity|glucose-6-phosphate transmembrane transporter activity			large_intestine(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GGGAGGTGCCACACAAGTTGG	0.527									Glycogen_Storage_Disease_type_Ib				G	118895938	A	G	118895938	2	3	104	1	0	0	0	0	0	0	0	1	14600	157	6	3		3	SLC37A4	11	118895938	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	123950	118895938	16110578	4340	70954											
DPAGT1	1798	broad.mit.edu	37	chr11	118967732	118967732	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatcatagaagagtcgaacGagctgatatcgaatggagaa	11	6	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:118967732G>A	uc001pvi.2	-	9	1623	c.1203C>T	c.(1201-1203)CTC>CTT	p.L401L	H2AFX_uc001pvg.2_5'Flank|H2AFX_uc001pvh.1_5'Flank|DPAGT1_uc001pvj.2_Silent_p.L294L|DPAGT1_uc009zaq.2_RNA|DPAGT1_uc001pvk.2_Silent_p.L229L|DPAGT1_uc010ryz.1_Silent_p.L401L|DPAGT1_uc001pvm.1_3'UTR|DPAGT1_uc010rza.1_Silent_p.L320L	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN	UDP-N-acetylglucosamine-dolichyl-phosphate	401	Lumenal (Potential).				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|ovary(1)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		AGAGTCGAACGAGCTGATATC	0.493													A	118967732	G	A	118967732	2	1	104	1	0	0	0	0	0	0	0	1	4710	1045	37	1		1	DPAGT1	11	118967732	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	71794	118967732	16038784	4341	70955											
MFRP	83552	broad.mit.edu	37	chr11	119216216	119216216	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctatgctgagggcttcgatCttgagctgtattgcatggtc	12	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:119216216C>A	uc001pwj.2	-	5	715	c.555G>T	c.(553-555)AAG>AAT	p.K185N	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.K185N	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GGGCTTCGATCTTGAGCTGTA	0.577													A	119216216	C	A	119216216	3	1	104	1	0	0	0	0	1	0	0	0	9526	912	32	5	1220	5	MFRP	11	119216216	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	248484	119216216	15790300	4342	70956											
ARHGEF12	23365	broad.mit.edu	37	chr11	120292551	120292551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagtacagacaggtgatcGaatcatcaaggtaaggaata	12	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:120292551G>A	uc001pxl.1	+	6	345	c.338G>A	c.(337-339)CGA>CAA	p.R113Q	ARHGEF12_uc009zat.2_Missense_Mutation_p.R94Q|ARHGEF12_uc010rzn.1_Missense_Mutation_p.R10Q|ARHGEF12_uc009zau.1_Missense_Mutation_p.R10Q	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	113	PDZ.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ACAGGTGATCGAATCATCAAG	0.338			T	MLL	AML								A	120292551	G	A	120292551	3	1	104	1	0	0	0	0	1	0	0	0	897	1058	37	1	360	1	ARHGEF12	11	120292551	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1076335	120292551	14713965	4343	70957											
ARHGEF12	23365	broad.mit.edu	37	chr11	120350997	120350997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgattatgaccccagagatGcctaccatggagccagaagg	11	10	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:120350997G>A	uc001pxl.1	+	38	4102	c.4095G>A	c.(4093-4095)ATG>ATA	p.M1365I	ARHGEF12_uc009zat.2_Missense_Mutation_p.M1346I|ARHGEF12_uc009zau.1_Missense_Mutation_p.M1262I	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1365					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CCCCAGAGATGCCTACCATGG	0.493			T	MLL	AML								A	120350997	G	A	120350997	3	1	104	1	0	0	0	0	1	0	0	0	897	1319	46	2	4245	2	ARHGEF12	11	120350997	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	58446	120350997	14655519	4344	70958											
TECTA	7007	broad.mit.edu	37	chr11	121000423	121000423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatcgaaacaaaaacagtaCgacagtggagtccaagggcg	11	8	0	0	rs111759871	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:121000423C>T	uc010rzo.1	+	9	2444	c.2444C>T	c.(2443-2445)ACG>ATG	p.T815M		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	815	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AAAAACAGTACGACAGTGGAG	0.453													T	121000423	C	T	121000423	3	4	104	1	0	0	0	0	1	0	0	0	15744	536	19	1	2478	1	TECTA	11	121000423	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	649426	121000423	14006093	4345	70959											
SC5DL	6309	broad.mit.edu	37	chr11	121174120	121174120	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgttgcagattactatttTtttacaccatacgtgtatcc	6	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:121174120T>G	uc001pxu.2	+	2	184	c.36T>G	c.(34-36)TTT>TTG	p.F12L	SC5DL_uc001pxs.1_Missense_Mutation_p.F12L|SC5DL_uc001pxt.2_Missense_Mutation_p.F12L|SC5DL_uc001pxv.2_Missense_Mutation_p.F12L	NM_006918	NP_008849	O75845	SC5D_HUMAN	sterol-C5-desaturase	12					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity			ovary(1)	1		Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	OV - Ovarian serous cystadenocarcinoma(1;0.0334)	BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		ATTACTATTTTTTTACACCAT	0.388													G	121174120	T	G	121174120	3	3	104	1	0	0	0	0	1	0	0	0	13866	1838	64	5	38	5	SC5DL	11	121174120	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	173697	121174120	13832396	4346	70960											
SORL1	6653	broad.mit.edu	37	chr11	121429396	121429396	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacctggtgtctgaggatgtGaagtggcccaatggcatctc	13	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:121429396G>T	uc001pxx.2	+	20	2840	c.2760G>T	c.(2758-2760)GTG>GTT	p.V920V		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	920	Extracellular (Potential).|LDL-receptor class B 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTGAGGATGTGAAGTGGCCCA	0.547													T	121429396	G	T	121429396	2	4	104	1	0	0	0	0	0	0	0	1	14934	1277	45	5		5	SORL1	11	121429396	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	255276	121429396	13577120	4347	70961											
SORL1	6653	broad.mit.edu	37	chr11	121478832	121478832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggctgcggtgactagtcGtggaataggaaactggagcg	18	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:121478832G>A	uc001pxx.2	+	38	5266	c.5186G>A	c.(5185-5187)CGT>CAT	p.R1729H	SORL1_uc010rzp.1_Missense_Mutation_p.R575H|SORL1_uc010rzq.1_Missense_Mutation_p.R344H	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1729	Extracellular (Potential).|Fibronectin type-III 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTGACTAGTCGTGGAATAGGA	0.363													A	121478832	G	A	121478832	3	1	104	1	0	0	0	0	1	0	0	0	14934	1145	40	1	5336	1	SORL1	11	121478832	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	49436	121478832	13527684	4348	70962											
SORL1	6653	broad.mit.edu	37	chr11	121491794	121491794	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtatgcagttgcagtcaaaGatctcataagaaagactgac	9	7	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:121491794G>A	uc001pxx.2	+	44	5991	c.5911G>A	c.(5911-5913)GAT>AAT	p.D1971N	SORL1_uc010rzp.1_Missense_Mutation_p.D817N|SORL1_uc010rzq.1_Missense_Mutation_p.D586N	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1971	Extracellular (Potential).|Fibronectin type-III 5.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGCAGTCAAAGATCTCATAAG	0.398													A	121491794	G	A	121491794	3	1	104	1	0	0	0	0	1	0	0	0	14934	942	33	4	6085	4	SORL1	11	121491794	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	12962	121491794	13514722	4349	70963											
ASAM	79827	broad.mit.edu	37	chr11	122944366	122944366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgacagtgtccgctggctgCgtgaggcactatttgctgtg	14	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:122944366C>T	uc001pyt.2	-	7	1297	c.938G>A	c.(937-939)CGC>CAC	p.R313H		NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN	adipocyte-specific adhesion molecule precursor	313	Ser-rich.|Cytoplasmic (Potential).					integral to membrane|tight junction					0		Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		CCGCTGGCTGCGTGAGGCACT	0.602													T	122944366	C	T	122944366	3	4	104	1	0	0	0	0	1	0	0	0	1009	768	27	1	187	1	ASAM	11	122944366	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1452572	122944366	12062150	4350	70964											
GRAMD1B	57476	broad.mit.edu	37	chr11	123477453	123477453	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttcactggacttcaatgAcaatgaggacatccccactg	7	14	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:123477453A>G	uc001pyx.2	+	10	1360	c.1031A>G	c.(1030-1032)GAC>GGC	p.D344G	GRAMD1B_uc001pyw.2_Missense_Mutation_p.D351G|GRAMD1B_uc010rzw.1_Missense_Mutation_p.D304G|GRAMD1B_uc010rzx.1_Missense_Mutation_p.D304G|GRAMD1B_uc009zbe.1_Missense_Mutation_p.D340G|GRAMD1B_uc001pyy.2_5'Flank	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	344						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GACTTCAATGACAATGAGGAC	0.517													G	123477453	A	G	123477453	3	3	104	1	0	0	0	0	1	0	0	0	6748	275	10	3	1069	3	GRAMD1B	11	123477453	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	533087	123477453	11529063	4351	70965											
OR8D4	338662	broad.mit.edu	37	chr11	123778058	123778058	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgatgaaacttttaagaaGaaaaatatctttatctccag	5	6	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:123778058G>T	uc010saa.1	+	1	920	c.920G>T	c.(919-921)AGA>ATA	p.R307I		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D,	307	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CTTTTAAGAAGAAAAATATCT	0.274													T	123778058	G	T	123778058	3	4	104	1	0	0	0	0	1	0	0	0	11233	942	33	5	922	5	OR8D4	11	123778058	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	300605	123778058	11228458	4352	70966											
OR8B12	219858	broad.mit.edu	37	chr11	124413406	124413406	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgcaggtgagagttcagccCaatcagggttatcaagccca	12	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:124413406C>A	uc010sam.1	-	1	145	c.145G>T	c.(145-147)GGG>TGG	p.G49W		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	49	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GAGTTCAGCCCAATCAGGGTT	0.498													A	124413406	C	A	124413406	3	1	104	1	0	0	0	0	1	0	0	0	11226	594	21	5	789	5	OR8B12	11	124413406	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	635348	124413406	10593110	4353	70967											
PANX3	116337	broad.mit.edu	37	chr11	124489454	124489454	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggctgacatcactgtccAttttccagattgttagcctc	8	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:124489454A>G	uc001qah.2	+	4	802	c.802A>G	c.(802-804)ATT>GTT	p.I268V		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	pannexin 3	268	Helical; (Potential).				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		ATCACTGTCCATTTTCCAGAT	0.468													G	124489454	A	G	124489454	3	3	104	1	0	0	0	0	1	0	0	0	11422	217	8	3	816	3	PANX3	11	124489454	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	76048	124489454	10517062	4354	70968											
HEPACAM	220296	broad.mit.edu	37	chr11	124793897	124793897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaccaacacctgtggcctcGaaatgggcactgagccgcag	11	15	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:124793897G>A	uc001qbk.2	-	3	843	c.437C>T	c.(436-438)TCG>TTG	p.S146L	HEPACAM_uc009zbj.2_5'Flank|HEPACAM_uc001qbl.1_Missense_Mutation_p.S146L	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	hepatocyte cell adhesion molecule precursor	146	Extracellular (Potential).				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				pancreas(1)	1	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTGTGGCCTCGAAATGGGCAC	0.552													A	124793897	G	A	124793897	3	1	104	1	0	0	0	0	1	0	0	0	7052	1059	37	1	833	1	HEPACAM	11	124793897	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	304443	124793897	10212619	4355	70969											
CCDC15	80071	broad.mit.edu	37	chr11	124858023	124858023	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaccaagattttctaccaaAatatcaggtaaaatagagca	7	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:124858023A>C	uc001qbm.3	+	8	2160	c.1901A>C	c.(1900-1902)AAA>ACA	p.K634T		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	634						centrosome				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		TTTCTACCAAAATATCAGGTA	0.378													C	124858023	A	C	124858023	3	2	104	1	0	0	0	0	1	0	0	0	2784	14	1	5	1927	5	CCDC15	11	124858023	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	64126	124858023	10148493	4356	70970											
CCDC15	80071	broad.mit.edu	37	chr11	124863121	124863121	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggagattgcaagaggaaaTactcctggagtgcccttggt	14	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:124863121T>C	uc001qbm.3	+	11	2455	c.2196T>C	c.(2194-2196)AAT>AAC	p.N732N		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	732						centrosome				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CAAGAGGAAATACTCCTGGAG	0.358													C	124863121	T	C	124863121	2	2	104	1	0	0	0	0	0	0	0	1	2784	1403	49	3		3	CCDC15	11	124863121	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	5098	124863121	10143395	4357	70971											
CCDC15	80071	broad.mit.edu	37	chr11	124908850	124908850	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttacgagcccaaatccaggaGaaaatgcagctgtataatat	8	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:124908850G>T	uc001qbm.3	+	15	2878	c.2619G>T	c.(2617-2619)GAG>GAT	p.E873D		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	873	Potential.					centrosome				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AAATCCAGGAGAAAATGCAGC	0.363													T	124908850	G	T	124908850	3	4	104	1	0	0	0	0	1	0	0	0	2784	933	33	5	2673	5	CCDC15	11	124908850	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	45729	124908850	10097666	4358	70972											
PKNOX2	63876	broad.mit.edu	37	chr11	125301169	125301169	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actcattggatgggacagaaGaagaggatgaggatgagatg	16	3	1	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:125301169G>T	uc001qbu.2	+	13	1614	c.1300G>T	c.(1300-1302)GAA>TAA	p.E434*	PKNOX2_uc010saz.1_Nonsense_Mutation_p.E405*|PKNOX2_uc010sba.1_Nonsense_Mutation_p.E405*|PKNOX2_uc010sbb.1_Nonsense_Mutation_p.E370*|PKNOX2_uc001qbv.2_Nonsense_Mutation_p.E199*	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	434	Asp/Glu-rich (acidic).					nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TGGGACAgaagaagaggatga	0.398													T	125301169	G	T	125301169	4	4	104	1	0	0	0	0	0	1	0	0	11983	943	33	5	1338	5	PKNOX2	11	125301169	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	392319	125301169	9705347	4359	70973											
EI24	9538	broad.mit.edu	37	chr11	125451124	125451124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggaattgaaatgcaccagCggttgtctaacatagaaagg	11	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:125451124C>T	uc001qca.2	+	9	933	c.691C>T	c.(691-693)CGG>TGG	p.R231W	EI24_uc001qcb.2_Intron|EI24_uc010sbd.1_RNA|EI24_uc009zbl.2_Missense_Mutation_p.R231W|EI24_uc001qcc.2_RNA|EI24_uc010sbe.1_Missense_Mutation_p.R217W|EI24_uc010sbf.1_RNA	NM_004879	NP_004870	O14681	EI24_HUMAN	etoposide induced 2.4 isoform 1	231					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				ovary(1)	1	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		AATGCACCAGCGGTTGTCTAA	0.363													T	125451124	C	T	125451124	3	4	104	1	0	0	0	0	1	0	0	0	4985	759	27	1	721	1	EI24	11	125451124	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	149955	125451124	9555392	4360	70974											
STT3A	3703	broad.mit.edu	37	chr11	125488282	125488282	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctagatatcaacaagtttCtttggatggtccggattgga	10	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:125488282C>A	uc001qcd.2	+	16	1899	c.1789C>A	c.(1789-1791)CTT>ATT	p.L597I	STT3A_uc001qce.2_Missense_Mutation_p.L597I|STT3A_uc010sbg.1_Missense_Mutation_p.L505I|STT3A_uc009zbn.2_Missense_Mutation_p.L319I	NM_152713	NP_689926	P46977	STT3A_HUMAN	integral membrane protein 1	597	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity				0	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		CAACAAGTTTCTTTGGATGGT	0.408													A	125488282	C	A	125488282	3	1	104	1	0	0	0	0	1	0	0	0	15332	913	32	5	1847	5	STT3A	11	125488282	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	37158	125488282	9518234	4361	70975											
CHEK1	1111	broad.mit.edu	37	chr11	125497713	125497713	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtagtggaggagagcttTttgacagaataggtatggaa	14	3	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:125497713T>G	uc009zbo.2	+	3	1169	c.277T>G	c.(277-279)TTT>GTT	p.F93V	CHEK1_uc010sbh.1_Intron|CHEK1_uc010sbi.1_Missense_Mutation_p.F93V|CHEK1_uc001qcf.3_Missense_Mutation_p.F93V|CHEK1_uc009zbp.2_Missense_Mutation_p.F93V|CHEK1_uc001qcg.3_Missense_Mutation_p.F93V|CHEK1_uc009zbq.2_Missense_Mutation_p.F93V|CHEK1_uc001qci.1_RNA	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	checkpoint kinase 1	93	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|skin(1)	6	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		AGGAGAGCTTTTTGACAGAAT	0.279								Other_conserved_DNA_damage_response_genes					G	125497713	T	G	125497713	3	3	104	1	0	0	0	0	1	0	0	0	3334	1841	64	5	283	5	CHEK1	11	125497713	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	9431	125497713	9508803	4362	70976											
CHEK1	1111	broad.mit.edu	37	chr11	125505412	125505412	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaacccttggaaaaaaatCgattctgctcctctaggtaa	6	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:125505412C>T	uc009zbo.2	+	7	1594	c.702C>T	c.(700-702)ATC>ATT	p.I234I	CHEK1_uc010sbh.1_Silent_p.I250I|CHEK1_uc010sbi.1_Silent_p.I234I|CHEK1_uc001qcf.3_Silent_p.I234I|CHEK1_uc009zbp.2_Silent_p.I234I|CHEK1_uc001qcg.3_Silent_p.I234I|CHEK1_uc009zbq.2_Silent_p.I234I|CHEK1_uc001qci.1_RNA	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	checkpoint kinase 1	234	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|skin(1)	6	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		GGAAAAAAATCGATTCTGCTC	0.358								Other_conserved_DNA_damage_response_genes					T	125505412	C	T	125505412	2	4	104	1	0	0	0	0	0	0	0	1	3334	874	31	1		1	CHEK1	11	125505412	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7699	125505412	9501104	4363	70977											
PATE1	160065	broad.mit.edu	37	chr11	125617607	125617607	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccaagtgatagaaattgTtcagtgtaggatgtgccacc	12	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:125617607T>G	uc001qct.2	+	4	149	c.137T>G	c.(136-138)GTT>GGT	p.V46G	PATE1_uc009zbr.2_Missense_Mutation_p.V34G	NM_138294	NP_612151	Q8WXA2	PATE1_HUMAN	expressed in prostate and testis precursor	46						extracellular region					0						ATAGAAATTGTTCAGTGTAGG	0.498													G	125617607	T	G	125617607	3	3	104	1	0	0	0	0	1	0	0	0	11473	1725	60	5	151	5	PATE1	11	125617607	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	112195	125617607	9388909	4364	70978											
PUS3	83480	broad.mit.edu	37	chr11	125763722	125763722	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtcaacacagaccctcttCgttggtgtctccaaattagt	8	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:125763722C>T	uc001qcy.2	-	4	1502	c.1404G>A	c.(1402-1404)ACG>ACA	p.T468T	HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	468						nucleus	RNA binding			ovary(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		AGACCCTCTTCGTTGGTGTCT	0.403													T	125763722	C	T	125763722	2	4	104	1	0	0	0	0	0	0	0	1	12832	871	31	1		1	PUS3	11	125763722	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	146115	125763722	9242794	4365	70979											
PUS3	83480	broad.mit.edu	37	chr11	125763900	125763900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgaggggcttatatgtgCgcatcttcactccttctaca	8	12	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:125763900C>T	uc001qcy.2	-	4	1324	c.1226G>A	c.(1225-1227)CGC>CAC	p.R409H	HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	409						nucleus	RNA binding			ovary(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		CTTATATGTGCGCATCTTCAC	0.473													T	125763900	C	T	125763900	3	4	104	1	0	0	0	0	1	0	0	0	12832	768	27	1	223	1	PUS3	11	125763900	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	178	125763900	9242616	4366	70980											
HYLS1	219844	broad.mit.edu	37	chr11	125769653	125769653	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgatcaggatctctgggaCttaagacaaaggctgatgaa	11	6	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:125769653C>A	uc009zbv.2	+	4	924	c.390C>A	c.(388-390)GAC>GAA	p.D130E	HYLS1_uc001qcx.3_Missense_Mutation_p.D130E|PUS3_uc001qcy.2_Intron	NM_145014	NP_659451	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	130						centrosome|nucleus				upper_aerodigestive_tract(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		ATCTCTGGGACTTAAGACAAA	0.393													A	125769653	C	A	125769653	3	1	104	1	0	0	0	0	1	0	0	0	7469	564	20	5	392	5	HYLS1	11	125769653	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5753	125769653	9236863	4367	70981											
DDX25	29118	broad.mit.edu	37	chr11	125792754	125792754	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caacgctgaagacatggatgAaattgaaaagattgactatt	9	5	0	6			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:125792754A>C	uc001qcz.3	+	12	1571	c.1430A>C	c.(1429-1431)GAA>GCA	p.E477A		NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 25	477	Helicase C-terminal.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			ovary(1)	1	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		GACATGGATGAAATTGAAAAG	0.343											OREG0021479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	125792754	A	C	125792754	3	2	104	1	0	0	0	0	1	0	0	0	4352	246	9	5	1476	5	DDX25	11	125792754	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	23101	125792754	9213762	4368	70982											
RPUSD4	84881	broad.mit.edu	37	chr11	126074205	126074205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccaaaagacaagtgaactCgaagctgatgttttattcct	7	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:126074205C>T	uc001qde.2	-	6	869	c.815G>A	c.(814-816)CGA>CAA	p.R272Q	RPUSD4_uc010sbl.1_Missense_Mutation_p.R79Q|RPUSD4_uc009zbz.2_Missense_Mutation_p.R241Q|RPUSD4_uc009zby.2_RNA	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	272					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)	1	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CAAGTGAACTCGAAGCTGATG	0.363													T	126074205	C	T	126074205	3	4	104	1	0	0	0	0	1	0	0	0	13669	884	31	1	326	1	RPUSD4	11	126074205	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	281451	126074205	8932311	4369	70983											
FAM118B	79607	broad.mit.edu	37	chr11	126104933	126104933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccaggcctctgatatagacGagatttttggattcttcaac	9	9	3	3	rs142027987	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:126104933G>A	uc001qdf.2	+	3	220	c.37G>A	c.(37-39)GAG>AAG	p.E13K	FAM118B_uc009zca.2_Missense_Mutation_p.E17K|FAM118B_uc001qdg.2_Missense_Mutation_p.E13K	NM_024556	NP_078832	Q9BPY3	F118B_HUMAN	hypothetical protein LOC79607	13											0	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		TGATATAGACGAGATTTTTGG	0.403													A	126104933	G	A	126104933	3	1	104	1	0	0	0	0	1	0	0	0	5412	1059	37	1	39	1	FAM118B	11	126104933	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	30728	126104933	8901583	4370	70984											
ARHGAP32	9743	broad.mit.edu	37	chr11	128844756	128844756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgggatatgaagcagcCctccttcctcctcactctca	9	15	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:128844756C>T	uc009zcp.2	-	20	2294	c.2294G>A	c.(2293-2295)GGG>GAG	p.G765E	ARHGAP32_uc009zcq.1_Missense_Mutation_p.G725E|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Missense_Mutation_p.G416E	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	765					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						ATGAAGCAGCCCTCCTTCCTC	0.488													T	128844756	C	T	128844756	3	4	104	1	0	0	0	0	1	0	0	0	881	623	22	4	3981	4	ARHGAP32	11	128844756	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2739823	128844756	6161760	4371	70985											
ARHGAP32	9743	broad.mit.edu	37	chr11	128936648	128936648	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggactgtccttcagggtgTcagaacggggaagttctgag	15	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:128936648T>C	uc009zcp.2	-	6	605	c.605A>G	c.(604-606)GAC>GGC	p.D202G	ARHGAP32_uc009zcq.1_Missense_Mutation_p.D162G|ARHGAP32_uc001qfb.2_5'UTR	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	202	PX; atypical.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						CTTCAGGGTGTCAGAACGGGG	0.368													C	128936648	T	C	128936648	3	2	104	1	0	0	0	0	1	0	0	0	881	1667	58	3	5726	3	ARHGAP32	11	128936648	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	91892	128936648	6069868	4372	70986											
ADAMTS8	11095	broad.mit.edu	37	chr11	130284622	130284622	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtggcggaaatccggcCcaaagatctgcctgcactgc	13	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:130284622C>A	uc001qgg.3	-	5	1728	c.1370G>T	c.(1369-1371)GGG>GTG	p.G457V	ADAMTS8_uc001qgf.2_5'Flank	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	457	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GAAATCCGGCCCAAAGATCTG	0.662													A	130284622	C	A	130284622	3	1	104	1	0	0	0	0	1	0	0	0	272	623	22	5	1319	5	ADAMTS8	11	130284622	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1347974	130284622	4721894	4373	70987											
ADAMTS15	170689	broad.mit.edu	37	chr11	130319043	130319043	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactcatttttcagatcacaGcatttcaggaggacttttac	7	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:130319043G>T	uc010scd.1	+	1	175	c.175G>T	c.(175-177)GCA>TCA	p.A59S		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	59					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TCAGATCACAGCATTTCAGGA	0.602													T	130319043	G	T	130319043	3	4	104	1	0	0	0	0	1	0	0	0	260	971	34	5	177	5	ADAMTS15	11	130319043	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	34421	130319043	4687473	4374	70988											
NCAPD3	23310	broad.mit.edu	37	chr11	134079276	134079276	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcagaagccttaaaaaattCtttaaaaggtgaaagatggc	10	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:134079276C>A	uc001qhd.1	-	5	1269	c.663G>T	c.(661-663)AAG>AAT	p.K221N	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	221					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTAAAAAATTCTTTAAAAGGT	0.353													A	134079276	C	A	134079276	3	1	104	1	0	0	0	0	1	0	0	0	10206	912	32	5	3957	5	NCAPD3	11	134079276	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3760233	134079276	927240	4375	70989											
VPS26B	112936	broad.mit.edu	37	chr11	134095105	134095105	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgggccgagcacaagacggAggacgggaagaaggagaaat	18	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr11:134095105A>G	uc001qhe.2	+	1	545	c.89A>G	c.(88-90)GAG>GGG	p.E30G	NCAPD3_uc001qhd.1_5'Flank|NCAPD3_uc010scm.1_5'Flank|NCAPD3_uc009zda.1_5'Flank|NCAPD3_uc010scn.1_5'Flank	NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B	30					protein transport|vacuolar transport	cytosol|retromer complex					0	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		CACAAGACGGAGGACGGGAAG	0.597													G	134095105	A	G	134095105	3	3	104	1	0	0	0	0	1	0	0	0	17195	304	11	3	91	3	VPS26B	11	134095105	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	15829	134095105	911411	4376	70990											
SLC6A13	6540	broad.mit.edu	37	chr12	331772	331772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgtacccaatcatgtcttCgatgttgtcgtagaagcgct	9	11	2	1	rs142374546	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:331772C>T	uc001qic.1	-	13	1494	c.1441G>A	c.(1441-1443)GAA>AAA	p.E481K	SLC6A13_uc009zdj.1_Missense_Mutation_p.E471K|SLC6A13_uc010sdl.1_Missense_Mutation_p.E389K	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	481					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ATCATGTCTTCGATGTTGTCG	0.483													T	331772	C	T	331772	3	4	104	1	0	0	0	0	1	0	0	0	14676	893	31	1	379	1	SLC6A13	12	331772	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08		331772	133520123	4377	70991											
SLC6A13	6540	broad.mit.edu	37	chr12	335650	335650	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggccacaaagctggtgccGctgttgaggaagcagagggc	16	11	0	2	rs149831603	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:335650G>A	uc001qic.1	-	9	1019	c.966C>T	c.(964-966)AGC>AGT	p.S322S	SLC6A13_uc009zdj.1_Silent_p.S312S|SLC6A13_uc010sdl.1_Silent_p.S230S	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	322	Helical; Name=7; (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AGCTGGTGCCGCTGTTGAGGA	0.617													A	335650	G	A	335650	2	1	104	1	0	0	0	0	0	0	0	1	14676	1078	38	1		1	SLC6A13	12	335650	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3878	335650	133516245	4378	70992											
KDM5A	5927	broad.mit.edu	37	chr12	430229	430229	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggacaaaggccttcaattCttccactgtcagtttggtcc	8	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:430229C>A	uc001qif.1	-	18	2836	c.2473G>T	c.(2473-2475)GAA>TAA	p.E825*	KDM5A_uc001qie.1_Nonsense_Mutation_p.E825*|KDM5A_uc010sdn.1_Nonsense_Mutation_p.E784*	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	825					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						GCCTTCAATTCTTCCACTGTC	0.398			T 	NUP98	AML								A	430229	C	A	430229	4	1	104	1	0	0	0	0	0	1	0	0	8133	922	32	5	2643	5	KDM5A	12	430229	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	94579	430229	133421666	4379	70993											
KDM5A	5927	broad.mit.edu	37	chr12	432777	432777	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttggatacctaagacatttCttctgcatggggcaggggca	12	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:432777C>A	uc001qif.1	-	15	2502	c.2139G>T	c.(2137-2139)AAG>AAT	p.K713N	KDM5A_uc001qie.1_Missense_Mutation_p.K713N|KDM5A_uc010sdn.1_Missense_Mutation_p.K672N|KDM5A_uc010sdo.1_Missense_Mutation_p.K332N	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	713					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						TAAGACATTTCTTCTGCATGG	0.378			T 	NUP98	AML								A	432777	C	A	432777	3	1	104	1	0	0	0	0	1	0	0	0	8133	912	32	5	2989	5	KDM5A	12	432777	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2548	432777	133419118	4380	70994											
B4GALNT3	283358	broad.mit.edu	37	chr12	665919	665919	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaaggcctggtctgggAcccacacaaccgtaggagac	12	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:665919A>G	uc001qii.1	+	15	2267	c.2267A>G	c.(2266-2268)GAC>GGC	p.D756G	B4GALNT3_uc001qik.1_Missense_Mutation_p.D305G	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	756	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CTGGTCTGGGACCCACACAAC	0.647													G	665919	A	G	665919	3	3	104	1	0	0	0	0	1	0	0	0	1268	275	10	3	2325	3	B4GALNT3	12	665919	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	233142	665919	133185976	4381	70995											
WNK1	65125	broad.mit.edu	37	chr12	862916	862916	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgccgccacactatggAcaaggacagccgtggggcgg	16	14	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:862916A>G	uc001qio.3	+	1	692	c.185A>G	c.(184-186)GAC>GGC	p.D62G	WNK1_uc001qin.2_Missense_Mutation_p.D62G|WNK1_uc001qip.3_Missense_Mutation_p.D62G	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	62					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CACACTATGGACAAGGACAGC	0.667													G	862916	A	G	862916	3	3	104	1	0	0	0	0	1	0	0	0	17374	275	10	3	187	3	WNK1	12	862916	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	196997	862916	132988979	4382	70996											
DCP1B	196513	broad.mit.edu	37	chr12	2058449	2058449	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgcgaacaccatgggggAcataagcagagacggagctg	15	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:2058449A>G	uc001qjx.1	-	8	1656	c.1576T>C	c.(1576-1578)TCC>CCC	p.S526P	DCP1B_uc010sdy.1_Missense_Mutation_p.S424P	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	526					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			ACCATGGGGGACATAAGCAGA	0.617													G	2058449	A	G	2058449	3	3	104	1	0	0	0	0	1	0	0	0	4299	275	10	3	285	3	DCP1B	12	2058449	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1195533	2058449	131793446	4383	70997											
CACNA1C	775	broad.mit.edu	37	chr12	2224703	2224703	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggcctgcatcagcattgtCgaatggaaatatcctttgtt	10	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:2224703C>T	uc009zdu.1	+	2	676	c.363C>T	c.(361-363)GTC>GTT	p.V121V	CACNA1C_uc009zdv.1_Silent_p.V121V|CACNA1C_uc001qkb.2_Silent_p.V121V|CACNA1C_uc001qkc.2_Silent_p.V121V|CACNA1C_uc001qke.2_Silent_p.V121V|CACNA1C_uc001qkf.2_Silent_p.V121V|CACNA1C_uc001qjz.2_Silent_p.V121V|CACNA1C_uc001qkd.2_Silent_p.V121V|CACNA1C_uc001qkg.2_Silent_p.V121V|CACNA1C_uc009zdw.1_Silent_p.V121V|CACNA1C_uc001qkh.2_Silent_p.V121V|CACNA1C_uc001qkl.2_Silent_p.V121V|CACNA1C_uc001qkn.2_Silent_p.V121V|CACNA1C_uc001qko.2_Silent_p.V121V|CACNA1C_uc001qkp.2_Silent_p.V121V|CACNA1C_uc001qkr.2_Silent_p.V121V|CACNA1C_uc001qku.2_Silent_p.V121V|CACNA1C_uc001qkq.2_Silent_p.V121V|CACNA1C_uc001qks.2_Silent_p.V121V|CACNA1C_uc001qkt.2_Silent_p.V121V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	121	Cytoplasmic (Potential).|I.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCAGCATTGTCGAATGGAAAT	0.647													T	2224703	C	T	2224703	2	4	104	1	0	0	0	0	0	0	0	1	2540	871	31	1		1	CACNA1C	12	2224703	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	166254	2224703	131627192	4384	70998											
CACNA1C	775	broad.mit.edu	37	chr12	2602492	2602492	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aactttgacaactttgccttCgccatgctcacggtgttcca	7	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:2602492C>T	uc009zdu.1	+	7	1366	c.1053C>T	c.(1051-1053)TTC>TTT	p.F351F	CACNA1C_uc009zdv.1_Silent_p.F348F|CACNA1C_uc001qkb.2_Silent_p.F351F|CACNA1C_uc001qkc.2_Silent_p.F351F|CACNA1C_uc001qke.2_Silent_p.F351F|CACNA1C_uc001qkf.2_Silent_p.F351F|CACNA1C_uc001qjz.2_Silent_p.F351F|CACNA1C_uc001qkd.2_Silent_p.F351F|CACNA1C_uc001qkg.2_Silent_p.F351F|CACNA1C_uc009zdw.1_Silent_p.F351F|CACNA1C_uc001qkh.2_Silent_p.F351F|CACNA1C_uc001qkl.2_Silent_p.F351F|CACNA1C_uc001qkn.2_Silent_p.F351F|CACNA1C_uc001qko.2_Silent_p.F351F|CACNA1C_uc001qkp.2_Silent_p.F351F|CACNA1C_uc001qkr.2_Silent_p.F351F|CACNA1C_uc001qku.2_Silent_p.F351F|CACNA1C_uc001qkq.2_Silent_p.F351F|CACNA1C_uc001qks.2_Silent_p.F351F|CACNA1C_uc001qkt.2_Silent_p.F351F|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Silent_p.F87F|CACNA1C_uc001qkj.1_Silent_p.F87F|CACNA1C_uc001qkk.1_Silent_p.F87F|CACNA1C_uc001qkm.1_Silent_p.F87F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	351	I.|Extracellular (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ACTTTGCCTTCGCCATGCTCA	0.617													T	2602492	C	T	2602492	2	4	104	1	0	0	0	0	0	0	0	1	2540	883	31	1		1	CACNA1C	12	2602492	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	377789	2602492	131249403	4385	70999											
TEAD4	7004	broad.mit.edu	37	chr12	3149557	3149557	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accaacagagacacacaggaGaccttgctgtgcattgccta	9	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:3149557G>A	uc010sej.1	+	13	1492	c.1215G>A	c.(1213-1215)GAG>GAA	p.E405E	TEAD4_uc010sek.1_Silent_p.E362E|TEAD4_uc001qln.2_Silent_p.E277E	NM_003213	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4 isoform 1	406					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			ACACACAGGAGACCTTGCTGT	0.547													A	3149557	G	A	3149557	2	1	104	1	0	0	0	0	0	0	0	1	15738	933	33	4		4	TEAD4	12	3149557	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	547065	3149557	130702338	4386	71000											
DYRK4	8798	broad.mit.edu	37	chr12	4716511	4716511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgctgggtctgccgccaGccggcttcattcagacagcc	13	14	3	1	rs139849675		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:4716511G>A	uc001qmx.2	+	10	1133	c.973G>A	c.(973-975)GCC>ACC	p.A325T	DYRK4_uc009zeh.1_Missense_Mutation_p.A440T|DYRK4_uc001qmy.1_Missense_Mutation_p.A325T|DYRK4_uc001qmz.1_Missense_Mutation_p.A39T|DYRK4_uc001qna.1_Intron|DYRK4_uc010ser.1_Intron	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	325	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)|skin(1)	3			Colorectal(7;0.103)			TCTGCCGCCAGCCGGCTTCAT	0.502													A	4716511	G	A	4716511	3	1	104	1	0	0	0	0	1	0	0	0	4858	971	34	2	1003	2	DYRK4	12	4716511	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1566954	4716511	129135384	4387	71001											
AKAP3	10566	broad.mit.edu	37	chr12	4737890	4737890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgattctccgggtttgaaccGaacatcttggaactctgctg	10	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:4737890G>A	uc001qnb.3	-	4	407	c.178C>T	c.(178-180)CGG>TGG	p.R60W		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	60					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						GGTTTGAACCGAACATCTTGG	0.502													A	4737890	G	A	4737890	3	1	104	1	0	0	0	0	1	0	0	0	452	1057	37	1	2391	1	AKAP3	12	4737890	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	21379	4737890	129114005	4388	71002											
GALNT8	26290	broad.mit.edu	37	chr12	4855352	4855352	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctggctgctaacaggcacttCctgggagagatcgggtctct	13	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:4855352C>A	uc001qne.1	+	6	1193	c.1101C>A	c.(1099-1101)TTC>TTA	p.F367L		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	367	Lumenal (Potential).|Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(1)|skin(1)	4						ACAGGCACTTCCTGGGAGAGA	0.532													A	4855352	C	A	4855352	3	1	104	1	0	0	0	0	1	0	0	0	6219	854	30	5	1123	5	GALNT8	12	4855352	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	117462	4855352	128996543	4389	71003											
KCNA1	3736	broad.mit.edu	37	chr12	5021705	5021705	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgacaattggaggcaagatCgtgggctccttgtgtgccat	14	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:5021705C>T	uc001qnh.2	+	2	2266	c.1161C>T	c.(1159-1161)ATC>ATT	p.I387I		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	387	Helical; Name=Segment S6; (Potential).				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAGGCAAGATCGTGGGCTCCT	0.527													T	5021705	C	T	5021705	2	4	104	1	0	0	0	0	0	0	0	1	8001	874	31	1		1	KCNA1	12	5021705	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	166353	5021705	128830190	4390	71004											
VWF	7450	broad.mit.edu	37	chr12	6058967	6058967	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttacctggcagtagtggatAtccacctctacttcagactt	7	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:6058967A>G	uc001qnn.1	-	51	8488	c.8238T>C	c.(8236-8238)GAT>GAC	p.D2746D	VWF_uc010set.1_3'UTR	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2746	CTCK.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	AGTAGTGGATATCCACCTCTA	0.527													G	6058967	A	G	6058967	2	3	104	1	0	0	0	0	0	0	0	1	17243	446	16	3		3	VWF	12	6058967	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1037262	6058967	127792928	4391	71005											
VWF	7450	broad.mit.edu	37	chr12	6132884	6132884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggtgtcgcagaagcaggCgcagtccccaatggactcac	12	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:6132884C>T	uc001qnn.1	-	25	3542	c.3292G>A	c.(3292-3294)GCC>ACC	p.A1098T	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1098					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CAGAAGCAGGCGCAGTCCCCA	0.607													T	6132884	C	T	6132884	3	4	104	1	0	0	0	0	1	0	0	0	17243	768	27	1	5261	1	VWF	12	6132884	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	73917	6132884	127719011	4392	71006											
VWF	7450	broad.mit.edu	37	chr12	6181527	6181527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctcgagagagggaggtgCcgggagggtagcgctttccg	19	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:6181527C>T	uc001qnn.1	-	9	1329	c.1079G>A	c.(1078-1080)GGC>GAC	p.G360D	VWF_uc010set.1_Missense_Mutation_p.G360D	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	360					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	GAGGGAGGTGCCGGGAGGGTA	0.647													T	6181527	C	T	6181527	3	4	104	1	0	0	0	0	1	0	0	0	17243	739	26	2	7538	2	VWF	12	6181527	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	48643	6181527	127670368	4393	71007											
CD9	928	broad.mit.edu	37	chr12	6334636	6334636	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attggactatggctccgattCgactctcagaccaagagcat	9	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:6334636C>T	uc001qnp.1	+	3	555	c.111C>T	c.(109-111)TTC>TTT	p.F37F	CD9_uc010seu.1_Silent_p.F37F|CD9_uc010sev.1_Silent_p.F37F|CD9_uc001qnq.1_Silent_p.F37F	NM_001769	NP_001760	P21926	CD9_HUMAN	CD9 antigen	37	Extracellular (Potential).				cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				ovary(1)	1						GGCTCCGATTCGACTCTCAGA	0.488													T	6334636	C	T	6334636	2	4	104	1	0	0	0	0	0	0	0	1	3046	883	31	1		1	CD9	12	6334636	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	153109	6334636	127517259	4394	71008											
CHD4	1108	broad.mit.edu	37	chr12	6692411	6692411	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agttgacctgtttacggattCtttttcctttgcccagattt	7	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:6692411C>A	uc001qpo.2	-	26	4177	c.4013G>T	c.(4012-4014)AGA>ATA	p.R1338I	CHD4_uc001qpn.2_Missense_Mutation_p.R1331I|CHD4_uc001qpp.2_Missense_Mutation_p.R1335I|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1338					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTTACGGATTCTTTTTCCTTT	0.552													A	6692411	C	A	6692411	3	1	104	1	0	0	0	0	1	0	0	0	3327	913	32	5	1785	5	CHD4	12	6692411	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	357775	6692411	127159484	4395	71009											
ACRBP	84519	broad.mit.edu	37	chr12	6749577	6749577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggagtcttgtgggaggtgtCgcattgttgccgctgcaggc	18	8	1	0	rs150031699		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:6749577C>T	uc001qpu.1	-	7	1237	c.1189G>A	c.(1189-1191)GAC>AAC	p.D397N	LPAR5_uc010sff.1_5'Flank|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Missense_Mutation_p.D364N	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	proacrosin binding protein sp32 precursor	397						acrosomal vesicle|extracellular region				central_nervous_system(1)	1						TGGGAGGTGTCGCATTGTTGC	0.617													T	6749577	C	T	6749577	3	4	104	1	0	0	0	0	1	0	0	0	170	884	31	1	458	1	ACRBP	12	6749577	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	57166	6749577	127102318	4396	71010											
CD4	920	broad.mit.edu	37	chr12	6925323	6925323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaagctgacgggcagtggcGagctgtggtggcaggcggag	20	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:6925323G>A	uc001qqv.1	+	6	954	c.709G>A	c.(709-711)GAG>AAG	p.E237K	CD4_uc009zez.1_3'UTR|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_Missense_Mutation_p.E58K|CD4_uc010sfk.1_5'UTR|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	CD4 antigen precursor	237	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)				GGGCAGTGGCGAGCTGTGGTG	0.537													A	6925323	G	A	6925323	3	1	104	1	0	0	0	0	1	0	0	0	3014	1059	37	1	727	1	CD4	12	6925323	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	175746	6925323	126926572	4397	71011											
C12orf57	113246	broad.mit.edu	37	chr12	7053657	7053657	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggtcctcgcggaggtgaTccaggcgttctccgccccgg	15	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:7053657T>C	uc001qrz.2	+	2	153	c.71T>C	c.(70-72)ATC>ACC	p.I24T	C12orf57_uc009zfj.1_Missense_Mutation_p.I48T|PTPN6_uc001qsa.1_5'Flank|PTPN6_uc010sfr.1_5'Flank	NM_138425	NP_612434	Q99622	C10_HUMAN	C10 protein	24											0						GCGGAGGTGATCCAGGCGTTC	0.652											OREG0021642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	7053657	T	C	7053657	3	2	104	1	0	0	0	0	1	0	0	0	1701	1435	50	3	77	3	C12orf57	12	7053657	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	128334	7053657	126798238	4398	71012											
CLSTN3	9746	broad.mit.edu	37	chr12	7295598	7295598	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggctggactatagggatttCgagagcctgggcaaaggcat	16	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:7295598C>T	uc001qsr.2	+	11	1952	c.1674C>T	c.(1672-1674)TTC>TTT	p.F558F	CLSTN3_uc001qss.2_Silent_p.F570F	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	558	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						ATAGGGATTTCGAGAGCCTGG	0.612													T	7295598	C	T	7295598	2	4	104	1	0	0	0	0	0	0	0	1	3563	883	31	1		1	CLSTN3	12	7295598	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	241941	7295598	126556297	4399	71013											
ACSM4	341392	broad.mit.edu	37	chr12	7475867	7475867	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaaggccaagaaattaAaccaggttcaatggggaaag	11	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:7475867A>C	uc001qsx.1	+	8	1163	c.1163A>C	c.(1162-1164)AAA>ACA	p.K388T		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	388					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding				0						CAAGAAATTAAACCAGGTTCA	0.383													C	7475867	A	C	7475867	3	2	104	1	0	0	0	0	1	0	0	0	186	14	1	5	1193	5	ACSM4	12	7475867	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	180269	7475867	126376028	4400	71014											
CD163L1	283316	broad.mit.edu	37	chr12	7556295	7556295	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacgacgactgccaaagacgCtgaacggacatcctagctgc	10	14	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:7556295C>G	uc001qsy.2	-	6	1270	c.1244G>C	c.(1243-1245)AGC>ACC	p.S415T	CD163L1_uc010sge.1_Missense_Mutation_p.S425T	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	415	SRCR 4.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						GCCAAAGACGCTGAACGGACA	0.463													G	7556295	C	G	7556295	3	3	104	1	0	0	0	0	1	0	0	0	2968	797	28	5	3173	5	CD163L1	12	7556295	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	80428	7556295	126295600	4401	71015											
SLC2A14	144195	broad.mit.edu	37	chr12	7972091	7972091	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacttacctttaataacaaaGaaacagtcatgagcgtggaa	7	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:7972091G>T	uc001qtk.2	-	14	1920	c.1127C>A	c.(1126-1128)TCT>TAT	p.S376Y	SLC2A14_uc001qtl.2_Missense_Mutation_p.S353Y|SLC2A14_uc001qtm.2_Missense_Mutation_p.S353Y|SLC2A14_uc010sgg.1_Missense_Mutation_p.S267Y|SLC2A14_uc001qtn.2_Missense_Mutation_p.S376Y|SLC2A14_uc001qto.2_Missense_Mutation_p.S11Y|SLC2A14_uc010sgh.1_Missense_Mutation_p.S391Y	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	glucose transporter 14	376	Helical; Name=9; (Potential).			SL -> PC (in Ref. 2; AAQ63763).	cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			ovary(1)	1				Kidney(36;0.0883)		TAATAACAAAGAAACAGTCAT	0.448													T	7972091	G	T	7972091	3	4	104	1	0	0	0	0	1	0	0	0	14543	942	33	5	447	5	SLC2A14	12	7972091	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	415796	7972091	125879804	4402	71016											
SLC2A3	6515	broad.mit.edu	37	chr12	8075568	8075568	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccaatttcaaagaaggctAcaaagaccaagatagcccca	7	11	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:8075568A>G	uc001qtr.2	-	9	1383	c.1121T>C	c.(1120-1122)GTA>GCA	p.V374A		NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	374	Helical; Name=10; (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		AAAGAAGGCTACAAAGACCAA	0.493													G	8075568	A	G	8075568	3	3	104	1	0	0	0	0	1	0	0	0	14545	391	14	3	377	3	SLC2A3	12	8075568	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	103477	8075568	125776327	4403	71017											
FOXJ2	55810	broad.mit.edu	37	chr12	8200530	8200530	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgaacaactactacatgtaTcagcagcagcagccaccgcc	7	15	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:8200530T>C	uc001qtu.2	+	7	1955	c.870T>C	c.(868-870)TAT>TAC	p.Y290Y	FOXJ2_uc001qtt.1_Silent_p.Y290Y	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	290					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				Kidney(36;0.0944)		ACTACATGTATcagcagcagc	0.428													C	8200530	T	C	8200530	2	2	104	1	0	0	0	0	0	0	0	1	6012	1442	50	3		3	FOXJ2	12	8200530	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	124962	8200530	125651365	4404	71018											
C3AR1	719	broad.mit.edu	37	chr12	8211843	8211843	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattgtaataatcctggaaAccttgtggtagctcagactc	8	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:8211843A>G	uc001qtv.1	-	2	1031	c.939T>C	c.(937-939)GGT>GGC	p.G313G		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	313	Extracellular (Potential).				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)	1				Kidney(36;0.0893)		AATCCTGGAAACCTTGTGGTA	0.468													G	8211843	A	G	8211843	2	3	104	1	0	0	0	0	0	0	0	1	2205	30	2	3		3	C3AR1	12	8211843	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	11313	8211843	125640052	4405	71019											
NECAP1	25977	broad.mit.edu	37	chr12	8248234	8248234	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gattctcctgctcctgtcacGacaccagcaccaactccagt	6	17	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:8248234G>A	uc001qtx.2	+	7	792	c.714G>A	c.(712-714)ACG>ACA	p.T238T	NECAP1_uc001qty.2_Silent_p.T96T	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	238					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				ovary(1)	1				Kidney(36;0.0915)		CTCCTGTCACGACACCAGCAC	0.388													A	8248234	G	A	8248234	2	1	104	1	0	0	0	0	0	0	0	1	10307	1045	37	1		1	NECAP1	12	8248234	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	36391	8248234	125603661	4406	71020											
FAM90A1	55138	broad.mit.edu	37	chr12	8374624	8374624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgtccgttttccagtctccGaaagagcactctgagaggct	11	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:8374624G>A	uc001qui.2	-	7	1748	c.1189C>T	c.(1189-1191)CGG>TGG	p.R397W	FAM90A1_uc001quh.2_Missense_Mutation_p.R397W	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	hypothetical protein LOC55138	397							nucleic acid binding|zinc ion binding			ovary(1)	1				Kidney(36;0.0866)		TCCAGTCTCCGAAAGAGCACT	0.632													A	8374624	G	A	8374624	3	1	104	1	0	0	0	0	1	0	0	0	5650	1057	37	1	209	1	FAM90A1	12	8374624	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	126390	8374624	125477271	4407	71021											
CLEC6A	93978	broad.mit.edu	37	chr12	8628798	8628798	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaaggtaataataattgGcaatggattgataagacacc	8	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:8628798G>A	uc001qum.1	+	5	564	c.447G>A	c.(445-447)TGG>TGA	p.W149*		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	dectin-2	149	Extracellular (Potential).|C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)	1	Lung SC(5;0.184)					ataataattggcaatggattg	0.119													A	8628798	G	A	8628798	4	1	104	1	0	0	0	0	0	1	0	0	3520	1212	42	2	465	2	CLEC6A	12	8628798	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	254174	8628798	125223097	4408	71022											
CLEC4E	26253	broad.mit.edu	37	chr12	8691820	8691820	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggactattatacctgatccAtaattgtagcaggagagctc	10	8	0	2	rs150324510		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:8691820A>G	uc001quo.1	-	3	378	c.213T>C	c.(211-213)TAT>TAC	p.Y71Y		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	71	Extracellular (Potential).					integral to membrane	sugar binding			central_nervous_system(1)	1	Lung SC(5;0.184)					TACCTGATCCATAATTGTAGC	0.383													G	8691820	A	G	8691820	2	3	104	1	0	0	0	0	0	0	0	1	3515	224	8	3		3	CLEC4E	12	8691820	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	63022	8691820	125160075	4409	71023											
A2ML1	144568	broad.mit.edu	37	chr12	9008114	9008114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatctcacaggaaaggtggCatctgaatctgtctccctgg	11	11	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:9008114C>T	uc001quz.3	+	23	2872	c.2774C>T	c.(2773-2775)GCA>GTA	p.A925V	A2ML1_uc001qva.1_Missense_Mutation_p.A505V|A2ML1_uc010sgm.1_Missense_Mutation_p.A425V	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	769						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						GGAAAGGTGGCATCTGAATCT	0.443													T	9008114	C	T	9008114	3	4	104	1	0	0	0	0	1	0	0	0	5	710	25	2	2864	2	A2ML1	12	9008114	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	316294	9008114	124843781	4410	71024											
A2M	2	broad.mit.edu	37	chr12	9243800	9243800	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaaagagatccttacccgGatgcatttgggaaggtagtt	13	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:9243800G>A	uc001qvk.1	-	19	2579	c.2466C>T	c.(2464-2466)ATC>ATT	p.I822I	A2M_uc009zgk.1_Silent_p.I672I	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	822					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	TCCTTACCCGGATGCATTTGG	0.428													A	9243800	G	A	9243800	2	1	104	1	0	0	0	0	0	0	0	1	4	1164	41	4		4	A2M	12	9243800	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	235686	9243800	124608095	4411	71025											
A2M	2	broad.mit.edu	37	chr12	9261990	9261990	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgttacttgtacttcaaActtgggaagaactgttgatt	8	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:9261990A>G	uc001qvk.1	-	7	798	c.685T>C	c.(685-687)TTT>CTT	p.F229L	A2M_uc009zgk.1_Missense_Mutation_p.F79L	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	229					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	TGTACTTCAAACTTGGGAAGA	0.373													G	9261990	A	G	9261990	3	3	104	1	0	0	0	0	1	0	0	0	4	43	2	3	3859	3	A2M	12	9261990	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	18190	9261990	124589905	4412	71026											
PZP	5858	broad.mit.edu	37	chr12	9303273	9303273	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcatagactttaacaattgCtggcttcaagtctcctactg	6	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:9303273C>A	uc001qvl.2	-	34	4380	c.4351G>T	c.(4351-4353)GCA>TCA	p.A1451S	PZP_uc009zgl.2_Missense_Mutation_p.A1237S	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						TTAACAATTGCTGGCTTCAAG	0.398													A	9303273	C	A	9303273	3	1	104	1	0	0	0	0	1	0	0	0	12869	797	28	5	109	5	PZP	12	9303273	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	41283	9303273	124548622	4413	71027											
PZP	5858	broad.mit.edu	37	chr12	9318693	9318693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtctcaggaaaatagcttCgcaccgtttcagggactggc	11	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:9318693C>T	uc001qvl.2	-	18	2242	c.2213G>A	c.(2212-2214)CGA>CAA	p.R738Q	PZP_uc009zgl.2_Missense_Mutation_p.R607Q|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Missense_Mutation_p.R70Q	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						AAAATAGCTTCGCACCGTTTC	0.448													T	9318693	C	T	9318693	3	4	104	1	0	0	0	0	1	0	0	0	12869	884	31	1	2311	1	PZP	12	9318693	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	15420	9318693	124533202	4414	71028											
CLEC12A	160364	broad.mit.edu	37	chr12	10131996	10131996	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacaaaacatcagtgaagaGctccagagaaatatttctct	6	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:10131996G>A	uc001qwr.3	+	3	440	c.252G>A	c.(250-252)GAG>GAA	p.E84E	CLEC12A_uc001qwq.2_Silent_p.E94E|CLEC12A_uc001qws.3_Silent_p.E51E|CLEC12A_uc001qwt.2_Silent_p.E13E	NM_138337	NP_612210	Q5QGZ9	CL12A_HUMAN	myeloid inhibitory C-type lectin-like receptor	84	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity|sugar binding			skin(1)	1						TCAGTGAAGAGCTCCAGAGAA	0.328													A	10131996	G	A	10131996	2	1	104	1	0	0	0	0	0	0	0	1	3497	962	34	2		2	CLEC12A	12	10131996	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	813303	10131996	123719899	4415	71029											
CLEC1B	51266	broad.mit.edu	37	chr12	10145803	10145803	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacacattaaataatgtttgTtctcacagaaggtagggtgc	9	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:10145803T>C	uc001qwu.2	-	6	829	c.629A>G	c.(628-630)AAC>AGC	p.N210S	CLEC1B_uc009zhd.2_Missense_Mutation_p.N177S	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B isoform	210	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity				0						ATAATGTTTGTTCTCACAGAA	0.393													C	10145803	T	C	10145803	3	2	104	1	0	0	0	0	1	0	0	0	3506	1725	60	3	64	3	CLEC1B	12	10145803	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	13807	10145803	123706092	4416	71030											
CLEC1B	51266	broad.mit.edu	37	chr12	10145850	10145850	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattatgaaaataagcacaAttcatatttccttttccatc	2	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:10145850A>C	uc001qwu.2	-	6	782	c.582T>G	c.(580-582)AAT>AAG	p.N194K	CLEC1B_uc009zhd.2_Missense_Mutation_p.N161K	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B isoform	194	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity				0						AATAAGCACAATTCATATTTC	0.373													C	10145850	A	C	10145850	3	2	104	1	0	0	0	0	1	0	0	0	3506	98	4	5	111	5	CLEC1B	12	10145850	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	47	10145850	123706045	4417	71031											
CLEC1A	51267	broad.mit.edu	37	chr12	10233922	10233922	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttatattctggacttgaagaGattgcaactcttgggacgta	10	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:10233922G>T	uc001qxb.2	-	3	389	c.305C>A	c.(304-306)TCT>TAT	p.S102Y	CLEC1A_uc009zhf.2_Missense_Mutation_p.S14Y|CLEC1A_uc001qxc.2_Missense_Mutation_p.S14Y|CLEC1A_uc001qxd.2_Missense_Mutation_p.S59Y|CLEC1A_uc010sgx.1_Intron	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	C-type lectin-like receptor-1	102	Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2						GACTTGAAGAGATTGCAACTC	0.423													T	10233922	G	T	10233922	3	4	104	1	0	0	0	0	1	0	0	0	3505	942	33	5	553	5	CLEC1A	12	10233922	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	88072	10233922	123617973	4418	71032											
CLEC7A	64581	broad.mit.edu	37	chr12	10282621	10282621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctggtattgctttgagagtCgaagtgtaattgagtatatc	11	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:10282621C>T	uc001qxg.2	-	1	248	c.61G>A	c.(61-63)GAC>AAC	p.D21N	CLEC7A_uc001qxe.3_RNA|CLEC7A_uc001qxf.2_Missense_Mutation_p.D21N|CLEC7A_uc001qxh.2_Missense_Mutation_p.D21N|CLEC7A_uc001qxi.2_Missense_Mutation_p.D21N|CLEC7A_uc001qxj.2_Missense_Mutation_p.D21N|CLEC7A_uc009zhg.1_RNA|CLEC7A_uc001qxk.1_RNA|CLEC7A_uc001qxl.1_Missense_Mutation_p.D21N|CLEC7A_uc010sgy.1_Missense_Mutation_p.D21N|CLEC7A_uc001qxm.1_Missense_Mutation_p.D21N|CLEC7A_uc001qxn.2_Missense_Mutation_p.D21N	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN	dendritic cell-associated C-type lectin 1	21	Cytoplasmic (Potential).				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)	1						CTTTGAGAGTCGAAGTGTAAT	0.358													T	10282621	C	T	10282621	3	4	104	1	0	0	0	0	1	0	0	0	3521	884	31	1	742	1	CLEC7A	12	10282621	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	48699	10282621	123569274	4419	71033											
C12orf59	120939	broad.mit.edu	37	chr12	10339104	10339104	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtctgagccgccagcaaAatggggaagatgggggccca	16	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:10339104A>C	uc001qxr.2	+	4	840	c.223A>C	c.(223-225)AAT>CAT	p.N75H	C12orf59_uc001qxq.2_Missense_Mutation_p.N55H			Q4KMG9	CL059_HUMAN	RecName: Full=Uncharacterized protein C12orf59; Flags: Precursor;	75						integral to membrane				ovary(1)	1						CCGCCAGCAAAATGGGGAAGA	0.567													C	10339104	A	C	10339104	3	2	104	1	0	0	0	0	1	0	0	0	1702	14	1	5	173	5	C12orf59	12	10339104	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	56483	10339104	123512791	4420	71034											
GABARAPL1	23710	broad.mit.edu	37	chr12	10374410	10374410	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcatgaggaagactattttCtgtatgtggcctacagtgat	10	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:10374410C>A	uc001qxs.2	+	4	553	c.313C>A	c.(313-315)CTG>ATG	p.L105M	GABARAPL1_uc001qxt.2_RNA|GABARAPL1_uc001qxu.2_RNA	NM_031412	NP_113600	Q9H0R8	GBRL1_HUMAN	GABA(A) receptor-associated protein like 1	105						autophagic vacuole|endoplasmic reticulum|Golgi apparatus|membrane|microtubule	beta-tubulin binding|GABA receptor binding				0						AGACTATTTTCTGTATGTGGC	0.368													A	10374410	C	A	10374410	3	1	104	1	0	0	0	0	1	0	0	0	6153	912	32	5	327	5	GABARAPL1	12	10374410	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	35306	10374410	123477485	4421	71035											
TAS2R8	50836	broad.mit.edu	37	chr12	10958754	10958754	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgagtgacccaaggggtagaGaattgctgcaatctctccaa	11	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:10958754G>T	uc010shh.1	-	1	826	c.826C>A	c.(826-828)CTC>ATC	p.L276I		NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	276	Helical; Name=7; (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			ovary(2)	2						AAGGGGTAGAGAATTGCTGCA	0.333													T	10958754	G	T	10958754	3	4	104	1	0	0	0	0	1	0	0	0	15584	942	33	5	106	5	TAS2R8	12	10958754	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	584344	10958754	122893141	4422	71036											
PRR4	11272	broad.mit.edu	37	chr12	10999769	10999769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggggtagagagagttgacGgtgtcctcgtcggggtggtc	19	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:10999769G>A	uc001qyz.3	-	3	337	c.298C>T	c.(298-300)CGT>TGT	p.R100C	PRR4_uc009zhp.2_Missense_Mutation_p.R113C|PRH1_uc001qzb.3_RNA|PRR4_uc001qza.3_Intron	NM_007244	NP_009175	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal) isoform 2	100					visual perception	extracellular space					0						GAGAGTTGACGGTGTCCTCGT	0.557													A	10999769	G	A	10999769	3	1	104	1	0	0	0	0	1	0	0	0	12599	1116	39	1	110	1	PRR4	12	10999769	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	41015	10999769	122852126	4423	71037											
PRB2	653247	broad.mit.edu	37	chr12	11546911	11546911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggtgctccttgtggatttCctggagaacaaagagagaag	15	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:11546911C>T	uc010shk.1	-	3	136	c.101G>A	c.(100-102)GGA>GAA	p.G34E		NM_006248	NP_006239			proline-rich protein BstNI subfamily 2												0		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGATTTCCTGGAGAACA	0.483													T	11546911	C	T	11546911	3	4	104	1	0	0	0	0	1	0	0	0	12443	869	30	4	1153	4	PRB2	12	11546911	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	547142	11546911	122304984	4424	71038											
DUSP16	80824	broad.mit.edu	37	chr12	12630251	12630251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtcctccacgctcccacttCgatgcagtggagataaaagg	10	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:12630251C>T	uc001rao.1	-	7	2146	c.1514G>A	c.(1513-1515)CGA>CAA	p.R505Q	DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.R357Q	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	505					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GCTCCCACTTCGATGCAGTGG	0.592													T	12630251	C	T	12630251	3	4	104	1	0	0	0	0	1	0	0	0	4816	884	31	1	487	1	DUSP16	12	12630251	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1083340	12630251	121221644	4425	71039											
GSG1	83445	broad.mit.edu	37	chr12	13237933	13237933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgcagctcggagtagaagtCgactccctcagagacagagt	12	12	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:13237933C>T	uc001rbn.2	-	7	1164	c.991G>A	c.(991-993)GAC>AAC	p.D331N	GSG1_uc001rbj.2_Missense_Mutation_p.D295N|GSG1_uc001rbk.2_3'UTR|GSG1_uc001rbl.2_Missense_Mutation_p.D267N|GSG1_uc001rbm.2_Missense_Mutation_p.D244N|GSG1_uc001rbo.2_3'UTR|GSG1_uc001rbp.2_Missense_Mutation_p.D308N|GSG1_uc001rbq.1_3'UTR	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	germ cell associated 1 isoform 4	318						endoplasmic reticulum membrane|integral to membrane					0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GAGTAGAAGTCGACTCCCTCA	0.547													T	13237933	C	T	13237933	3	4	104	1	0	0	0	0	1	0	0	0	6820	884	31	1	101	1	GSG1	12	13237933	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	607682	13237933	120613962	4426	71040											
ATF7IP	55729	broad.mit.edu	37	chr12	14577784	14577784	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatagaaccaagtagcaataAagatgatgattttcttgaaa	7	4	1	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:14577784A>C	uc001rbw.2	+	2	1093	c.935A>C	c.(934-936)AAA>ACA	p.K312T	ATF7IP_uc010shs.1_Missense_Mutation_p.K312T|ATF7IP_uc001rbu.2_Missense_Mutation_p.K312T|ATF7IP_uc001rbv.1_Missense_Mutation_p.K312T|ATF7IP_uc001rbx.2_Missense_Mutation_p.K312T|ATF7IP_uc010sht.1_Missense_Mutation_p.K312T|ATF7IP_uc001rby.3_Missense_Mutation_p.K312T|ATF7IP_uc001rbz.1_Missense_Mutation_p.K312T|ATF7IP_uc001rca.2_Missense_Mutation_p.K312T|ATF7IP_uc001rcb.2_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	312					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						AGTAGCAATAAAGATGATGAT	0.323													C	14577784	A	C	14577784	3	2	104	1	0	0	0	0	1	0	0	0	1087	14	1	5	937	5	ATF7IP	12	14577784	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1339851	14577784	119274111	4427	71041											
C12orf60	144608	broad.mit.edu	37	chr12	14976593	14976593	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atatttctgtgtttaagaaaGccagtgacaagtagggatgc	11	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:14976593G>T	uc001rcj.3	+	2	928	c.724G>T	c.(724-726)GCC>TCC	p.A242S		NM_175874	NP_787070	Q5U649	CL060_HUMAN	hypothetical protein LOC144608	242										ovary(1)|central_nervous_system(1)	2						GTTTAAGAAAGCCAGTGACAA	0.348													T	14976593	G	T	14976593	3	4	104	1	0	0	0	0	1	0	0	0	1703	971	34	5	726	5	C12orf60	12	14976593	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	398809	14976593	118875302	4428	71042											
ART4	420	broad.mit.edu	37	chr12	14995923	14995923	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctcagaaccctctgtgggtCtctgcaggccagagaggagc	13	13	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:14995923C>T	uc001rcl.1	-	1	491	c.125G>A	c.(124-126)AGA>AAA	p.R42K	ART4_uc009zid.1_RNA|ART4_uc009zie.1_RNA|ART4_uc001rcm.1_Missense_Mutation_p.R42K	NM_021071	NP_066549	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 precursor	42					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity				0						CTCTGTGGGTCTCTGCAGGCC	0.537													T	14995923	C	T	14995923	3	4	104	1	0	0	0	0	1	0	0	0	999	913	32	4	831	4	ART4	12	14995923	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	19330	14995923	118855972	4429	71043											
ERP27	121506	broad.mit.edu	37	chr12	15073929	15073929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaaacggctcaatttggtGgcatcaatgctttcaatgtc	9	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:15073929G>A	uc001rco.2	-	4	408	c.387C>T	c.(385-387)GCC>GCT	p.A129A		NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27 kDa precursor	129	Thioredoxin.					endoplasmic reticulum lumen				breast(1)	1						TCAATTTGGTGGCATCAATGC	0.398													A	15073929	G	A	15073929	2	1	104	1	0	0	0	0	0	0	0	1	5241	1335	47	4		4	ERP27	12	15073929	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	78006	15073929	118777966	4430	71044											
ERP27	121506	broad.mit.edu	37	chr12	15087795	15087795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acccacccaacttaccaggcGaaagaggcagatggtgttcc	10	13	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:15087795G>A	uc001rco.2	-	3	349	c.328C>T	c.(328-330)CGC>TGC	p.R110C		NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27 kDa precursor	110	Thioredoxin.					endoplasmic reticulum lumen				breast(1)	1						CTTACCAGGCGAAAGAGGCAG	0.468													A	15087795	G	A	15087795	3	1	104	1	0	0	0	0	1	0	0	0	5241	1058	37	1	513	1	ERP27	12	15087795	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13866	15087795	118764100	4431	71045											
ARHGDIB	397	broad.mit.edu	37	chr12	15103555	15103555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcctgcagctctttcaggGacttctgtggtggaggctta	12	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:15103555G>A	uc001rcq.1	-	2	196	c.92C>T	c.(91-93)TCC>TTC	p.S31F	ARHGDIB_uc001rcp.1_5'Flank	NM_001175	NP_001166	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	31					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity				0						CTCTTTCAGGGACTTCTGTGG	0.463													A	15103555	G	A	15103555	3	1	104	1	0	0	0	0	1	0	0	0	891	1174	41	4	533	4	ARHGDIB	12	15103555	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	15760	15103555	118748340	4432	71046											
EPS8	2059	broad.mit.edu	37	chr12	15793747	15793747	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagtctccacttgcatttcGaactttccaccattgcttcc	5	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:15793747G>A	uc009zif.2	-	17	1805	c.1711C>T	c.(1711-1713)CGA>TGA	p.R571*	EPS8_uc001rdb.2_Nonsense_Mutation_p.R571*|EPS8_uc009zig.2_Nonsense_Mutation_p.R311*|EPS8_uc010shv.1_Nonsense_Mutation_p.R311*	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	571	SH3.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CTTGCATTTCGAACTTTCCAC	0.393													A	15793747	G	A	15793747	4	1	104	1	0	0	0	0	0	1	0	0	5194	1066	37	1	777	1	EPS8	12	15793747	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	690192	15793747	118058148	4433	71047											
PIK3C2G	5288	broad.mit.edu	37	chr12	18552625	18552625	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaaagatatttatggtTttatcgcttctactgcaata	6	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:18552625T>G	uc001rdt.2	+	15	2152	c.2036T>G	c.(2035-2037)TTT>TGT	p.F679C	PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.F720C|PIK3C2G_uc010sic.1_Missense_Mutation_p.F498C	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2 gamma	679					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21		Hepatocellular(102;0.194)				TATTTATGGTTTTATCGCTTC	0.373													G	18552625	T	G	18552625	3	3	104	1	0	0	0	0	1	0	0	0	11911	1841	64	5	2090	5	PIK3C2G	12	18552625	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2758878	18552625	115299270	4434	71048											
SLCO1B3	28234	broad.mit.edu	37	chr12	21033812	21033812	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taattcagtggcatctcatgTagatgtaccactttcttatt	6	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:21033812T>C	uc001rek.2	+	11	1481	c.1355T>C	c.(1354-1356)GTA>GCA	p.V452A	SLCO1B3_uc001rel.2_Missense_Mutation_p.V452A|SLCO1B3_uc010sil.1_Missense_Mutation_p.V452A|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.V277A	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	452	Extracellular (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					GCATCTCATGTAGATGTACCA	0.274													C	21033812	T	C	21033812	3	2	104	1	0	0	0	0	1	0	0	0	14724	1638	57	3	1393	3	SLCO1B3	12	21033812	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2481187	21033812	112818083	4435	71049											
SLCO1B1	10599	broad.mit.edu	37	chr12	21355460	21355460	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatttttgcaagtggaatgTttttaggaggatatatcatt	9	3	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:21355460T>C	uc001req.3	+	10	1275	c.1171T>C	c.(1171-1173)TTT>CTT	p.F391L		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	391	Helical; Name=8; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	AAGTGGAATGTTTTTAGGAGG	0.294													C	21355460	T	C	21355460	3	2	104	1	0	0	0	0	1	0	0	0	14723	1725	60	3	1205	3	SLCO1B1	12	21355460	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	321648	21355460	112496435	4436	71050											
SLCO1B1	10599	broad.mit.edu	37	chr12	21392082	21392082	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttaaataaaaataaacatTttgtcccttctgctggggca	6	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:21392082T>G	uc001req.3	+	15	2139	c.2035T>G	c.(2035-2037)TTT>GTT	p.F679V		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	679	Cytoplasmic (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	AAATAAACATTTTGTCCCTTC	0.358													G	21392082	T	G	21392082	3	3	104	1	0	0	0	0	1	0	0	0	14723	1841	64	5	2089	5	SLCO1B1	12	21392082	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	36622	21392082	112459813	4437	71051											
PYROXD1	79912	broad.mit.edu	37	chr12	21602535	21602535	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcaatcagcacgtatataaGaaactctgtctgtgtgctgg	11	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:21602535G>A	uc001rew.2	+	4	451	c.324G>A	c.(322-324)AAG>AAA	p.K108K	PYROXD1_uc009ziq.2_5'UTR|PYROXD1_uc009zir.2_Intron	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase	108							oxidoreductase activity			ovary(1)	1						ACGTATATAAGAAACtctgtc	0.264													A	21602535	G	A	21602535	2	1	104	1	0	0	0	0	0	0	0	1	12866	933	33	4		4	PYROXD1	12	21602535	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	210453	21602535	112249360	4438	71052											
LDHB	3945	broad.mit.edu	37	chr12	21807557	21807557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttattgtttggaactgttgCctcttcttccgcaactggtg	9	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:21807557C>T	uc001rfc.2	-	1	67	c.49G>A	c.(49-51)GCA>ACA	p.A17T	LDHB_uc001rfd.2_Missense_Mutation_p.A17T|LDHB_uc001rfe.2_Missense_Mutation_p.A17T	NM_002300	NP_002291	P07195	LDHB_HUMAN	L-lactate dehydrogenase B	17					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|ovary(1)	3					NADH(DB00157)	GGAACTGTTGCCTCTTCTTCC	0.408													T	21807557	C	T	21807557	3	4	104	1	0	0	0	0	1	0	0	0	8701	739	26	2	983	2	LDHB	12	21807557	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	205022	21807557	112044338	4439	71053											
CMAS	55907	broad.mit.edu	37	chr12	22214262	22214262	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taaggaaataaaacttttggTttgcaatattgatggatgtc	9	3	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:22214262T>A	uc001rfm.2	+	6	915	c.836T>A	c.(835-837)GTT>GAT	p.V279D	CMAS_uc001rfn.2_Intron	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	cytidine monophospho-N-acetylneuraminic acid	279					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			ovary(1)|pancreas(1)|skin(1)	3						AAACTTTTGGTTTGCAATATT	0.338													A	22214262	T	A	22214262	3	1	104	1	0	0	0	0	1	0	0	0	3575	1725	60	5	858	5	CMAS	12	22214262	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	406705	22214262	111637633	4440	71054											
KIAA0528	9847	broad.mit.edu	37	chr12	22676481	22676481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccagactcgccctccagatCgaaacactgtaagtacccca	6	17	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:22676481C>T	uc001rfq.2	-	7	907	c.679G>A	c.(679-681)GAT>AAT	p.D227N	KIAA0528_uc010sir.1_Missense_Mutation_p.D29N|KIAA0528_uc010sis.1_Missense_Mutation_p.D227N|KIAA0528_uc010sit.1_Missense_Mutation_p.D227N|KIAA0528_uc010siu.1_Missense_Mutation_p.D227N|KIAA0528_uc001rfr.2_Missense_Mutation_p.D227N|KIAA0528_uc009ziy.1_Missense_Mutation_p.D227N	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	hypothetical protein LOC9847	227							protein binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						CCCTCCAGATCGAAACACTGT	0.468													T	22676481	C	T	22676481	3	4	104	1	0	0	0	0	1	0	0	0	8182	884	31	1	2399	1	KIAA0528	12	22676481	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	462219	22676481	111175414	4441	71055											
SOX5	6660	broad.mit.edu	37	chr12	24048769	24048769	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggagtcctatggccacaagtCtcttgcgtcagcagagaaac	11	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:24048769C>T	uc001rfw.2	-	2	330	c.228G>A	c.(226-228)GAG>GAA	p.E76E	SOX5_uc001rfx.2_Silent_p.E63E|SOX5_uc001rfy.2_Silent_p.E63E|SOX5_uc010siv.1_Silent_p.E63E|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Intron|SOX5_uc001rga.2_Intron	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	76					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						GGCCACAAGTCTCTTGCGTCA	0.483													T	24048769	C	T	24048769	2	4	104	1	0	0	0	0	0	0	0	1	14954	912	32	4		4	SOX5	12	24048769	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1372288	24048769	109803126	4442	71056											
BCAT1	586	broad.mit.edu	37	chr12	24995140	24995140	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgcttcacattgggcaaaAagagatgagccgtaattcct	9	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:24995140A>C	uc001rgd.3	-	7	1135	c.693T>G	c.(691-693)CTT>CTG	p.L231L	BCAT1_uc001rgc.2_Silent_p.L230L|BCAT1_uc010six.1_Silent_p.L243L|BCAT1_uc010siy.1_Silent_p.L194L|BCAT1_uc001rge.3_Silent_p.L170L	NM_005504	NP_005495	P54687	BCAT1_HUMAN	branched chain aminotransferase 1, cytosolic	231					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			lung(1)|breast(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	ATTGGGCAAAAAGAGATGAGC	0.438													C	24995140	A	C	24995140	2	2	104	1	0	0	0	0	0	0	0	1	1354	1	1	5		5	BCAT1	12	24995140	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	946371	24995140	108856755	4443	71057											
C12orf77	196415	broad.mit.edu	37	chr12	25148944	25148944	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctgtccagcgtctgcacGttcccttgtttgctcccagt	9	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:25148944G>A	uc001rgf.2	-	3	409	c.204C>T	c.(202-204)AAC>AAT	p.N68N		NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN	hypothetical protein LOC196415	68											0						GCGTCTGCACGTTCCCTTGTT	0.458													A	25148944	G	A	25148944	2	1	104	1	0	0	0	0	0	0	0	1	1716	1136	40	1		1	C12orf77	12	25148944	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	153804	25148944	108702951	4444	71058											
CASC1	55259	broad.mit.edu	37	chr12	25264706	25264706	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggaaagattcattcttgcCttattgtttataataacata	5	5	2	1	rs141209520		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:25264706C>A	uc001rgl.2	-	13	1843	c.1761G>T	c.(1759-1761)AAG>AAT	p.K587N	CASC1_uc001rgk.2_Missense_Mutation_p.K593N|CASC1_uc001rgm.3_Missense_Mutation_p.K651N|CASC1_uc001rgj.2_Missense_Mutation_p.K547N|CASC1_uc010sje.1_Missense_Mutation_p.K528N|CASC1_uc010sjf.1_Missense_Mutation_p.K475N	NM_001082973	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1 isoform b	587										ovary(2)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TCATTCTTGCCTTATTGTTTA	0.264													A	25264706	C	A	25264706	3	1	104	1	0	0	0	0	1	0	0	0	2660	695	24	5	401	5	CASC1	12	25264706	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	115762	25264706	108587189	4445	71059											
CASC1	55259	broad.mit.edu	37	chr12	25297436	25297436	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctacattcttaacatcatCtttgacaagctcagttactg	4	10	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:25297436C>A	uc001rgl.2	-	8	929	c.847G>T	c.(847-849)GAT>TAT	p.D283Y	CASC1_uc001rgk.2_Missense_Mutation_p.D289Y|CASC1_uc001rgm.3_Missense_Mutation_p.D347Y|CASC1_uc001rgj.2_Missense_Mutation_p.D243Y|CASC1_uc010sje.1_Missense_Mutation_p.D224Y|CASC1_uc010sjf.1_Missense_Mutation_p.D171Y|CASC1_uc010sjg.1_Missense_Mutation_p.D283Y	NM_001082973	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1 isoform b	283										ovary(2)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TTAACATCATCTTTGACAAGC	0.403													A	25297436	C	A	25297436	3	1	104	1	0	0	0	0	1	0	0	0	2660	913	32	5	1335	5	CASC1	12	25297436	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	32730	25297436	108554459	4446	71060											
KRAS	3845	broad.mit.edu	37	chr12	25378562	25378562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttacctgtcttgtctttgCtgatgtttcaataaaaggaa	7	7	3	1	rs121913527		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:25378562C>T	uc001rgp.1	-	4	617	c.436G>A	c.(436-438)GCA>ACA	p.A146T	KRAS_uc001rgq.1_Missense_Mutation_p.A146T	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	146			A -> T (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.A146T(46)|p.A146V(12)|p.A146P(3)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGTCTTTGCTGATGTTTCA	0.323	A146T(LS1034_LARGE_INTESTINE)|A146T(AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|A146T(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25378562	C	T	25378562	3	4	104	1	0	0	0	0	1	0	0	0	8438	797	28	2	262	2	KRAS	12	25378562	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	81126	25378562	108473333	4447	71061											
BHLHE41	79365	broad.mit.edu	37	chr12	26276620	26276620	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttaaggcggttaaagcttTtaagtgtttcaaagttaatt	10	3	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:26276620T>G	uc001rhb.2	-	4	580	c.289A>C	c.(289-291)AAA>CAA	p.K97Q		NM_030762	NP_110389	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix domain containing, class	97	Helix-loop-helix motif.				cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						GTTAAAGCTTTTAAGTGTTTC	0.443											OREG0021711	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	26276620	T	G	26276620	3	3	104	1	0	0	0	0	1	0	0	0	1424	1850	64	5	1167	5	BHLHE41	12	26276620	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	898058	26276620	107575275	4448	71062											
ITPR2	3709	broad.mit.edu	37	chr12	26596550	26596550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatccgatcctggtttgaGcatctgctgcaacagtttat	10	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:26596550G>A	uc001rhg.2	-	46	6793	c.6376C>T	c.(6376-6378)CTC>TTC	p.L2126F	ITPR2_uc009zjg.1_Missense_Mutation_p.L277F	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2126	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					CCTGGTTTGAGCATCTGCTGC	0.408													A	26596550	G	A	26596550	3	1	104	1	0	0	0	0	1	0	0	0	7921	971	34	2	1777	2	ITPR2	12	26596550	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	319930	26596550	107255345	4449	71063											
ITPR2	3709	broad.mit.edu	37	chr12	26752221	26752221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacaactctctcgctaatttCgttgcacagatggtaattgt	7	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:26752221C>T	uc001rhg.2	-	30	4276	c.3859G>A	c.(3859-3861)GAA>AAA	p.E1287K		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1287	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					TCGCTAATTTCGTTGCACAGA	0.438													T	26752221	C	T	26752221	3	4	104	1	0	0	0	0	1	0	0	0	7921	893	31	1	4358	1	ITPR2	12	26752221	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	155671	26752221	107099674	4450	71064											
C12orf11	55726	broad.mit.edu	37	chr12	27064188	27064188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggttctggggaatcaggcGaatcttttataatctcagct	11	7	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:27064188G>A	uc001rhk.3	-	15	2405	c.1868C>T	c.(1867-1869)TCG>TTG	p.S623L	C12orf11_uc001rhj.3_Missense_Mutation_p.S191L|C12orf11_uc010sjk.1_Missense_Mutation_p.S522L	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	623					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)					GGAATCAGGCGAATCTTTTAT	0.363													A	27064188	G	A	27064188	3	1	104	1	0	0	0	0	1	0	0	0	1675	1059	37	1	264	1	C12orf11	12	27064188	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	311967	27064188	106787707	4451	71065											
ARNTL2	56938	broad.mit.edu	37	chr12	27521247	27521247	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcctgtggtttccagccgCgtgagtccagggacaagacc	13	13	0	2	rs140915764	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:27521247C>T	uc001rht.1	+	2	102	c.84C>T	c.(82-84)CGC>CGT	p.R28R	ARNTL2_uc001rhw.2_Silent_p.R39R|ARNTL2_uc010sjp.1_Silent_p.R39R|ARNTL2_uc001rhu.1_Silent_p.R28R|ARNTL2_uc009zji.1_Silent_p.R28R|ARNTL2_uc001rhv.1_Silent_p.R28R	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear	28					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|skin(1)	2	Colorectal(261;0.0847)|Lung SC(9;0.184)					TTTCCAGCCGCGTGAGTCCAG	0.463													T	27521247	C	T	27521247	2	4	104	1	0	0	0	0	0	0	0	1	968	755	27	1		1	ARNTL2	12	27521247	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	457059	27521247	106330648	4452	71066											
ARNTL2	56938	broad.mit.edu	37	chr12	27533205	27533205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatagccaaactgaaaagCggaggagagataaaatgaat	10	6	1	3	rs140062821		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:27533205C>T	uc001rht.1	+	5	370	c.352C>T	c.(352-354)CGG>TGG	p.R118W	ARNTL2_uc001rhw.2_Missense_Mutation_p.R81W|ARNTL2_uc010sjp.1_Missense_Mutation_p.R81W|ARNTL2_uc001rhu.1_Missense_Mutation_p.R104W|ARNTL2_uc009zji.1_Missense_Mutation_p.R84W|ARNTL2_uc001rhv.1_Missense_Mutation_p.R70W	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear	118	Basic motif.				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|skin(1)	2	Colorectal(261;0.0847)|Lung SC(9;0.184)					AACTGAAAAGCGGAGGAGAGA	0.448													T	27533205	C	T	27533205	3	4	104	1	0	0	0	0	1	0	0	0	968	759	27	1	370	1	ARNTL2	12	27533205	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	11958	27533205	106318690	4453	71067											
PPFIBP1	8496	broad.mit.edu	37	chr12	27813821	27813821	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgatgttattttcagacatCgaagtacaaaaaatgaaaaa	6	4	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:27813821C>T	uc001ric.1	+	11	1286	c.909C>T	c.(907-909)ATC>ATT	p.I303I	PPFIBP1_uc010sjr.1_Silent_p.I131I|PPFIBP1_uc001rib.1_Silent_p.I283I|PPFIBP1_uc001ria.2_Silent_p.I272I|PPFIBP1_uc001rid.1_Silent_p.I150I	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	303	Potential.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)					TTTCAGACATCGAAGTACAAA	0.328													T	27813821	C	T	27813821	2	4	104	1	0	0	0	0	0	0	0	1	12313	874	31	1		1	PPFIBP1	12	27813821	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	280616	27813821	106038074	4454	71068											
PTHLH	5744	broad.mit.edu	37	chr12	28116612	28116612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagctgtgtggatttctgCgatcagatggtgaaggaaga	14	5	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:28116612C>T	uc001rik.2	-	3	496	c.193G>A	c.(193-195)GCA>ACA	p.A65T	PTHLH_uc001ril.2_Missense_Mutation_p.A65T|PTHLH_uc001rim.2_Missense_Mutation_p.A65T|PTHLH_uc001rin.2_Missense_Mutation_p.A65T	NM_198966	NP_945317	P12272	PTHR_HUMAN	parathyroid hormone-like hormone isoform 1	65	Important for receptor binding.				activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)	1	Lung SC(9;0.184)					TGGATTTCTGCGATCAGATGG	0.507													T	28116612	C	T	28116612	3	4	104	1	0	0	0	0	1	0	0	0	12761	768	27	1	352	1	PTHLH	12	28116612	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	302791	28116612	105735283	4455	71069											
IPO8	10526	broad.mit.edu	37	chr12	30837302	30837302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatttgctggcgatcgttttCgtgaatgttgaatggaaata	11	4	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:30837302C>T	uc001rjd.2	-	3	426	c.256G>A	c.(256-258)GAA>AAA	p.E86K		NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	86	Importin N-terminal.				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CGATCGTTTTCGTGAATGTTG	0.413													T	30837302	C	T	30837302	3	4	104	1	0	0	0	0	1	0	0	0	7798	893	31	1	2949	1	IPO8	12	30837302	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2720690	30837302	103014593	4456	71070											
CAPRIN2	65981	broad.mit.edu	37	chr12	30869579	30869579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttttatttcttgttcttttCgtggaggcagaggtgcatta	10	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:30869579C>T	uc001rji.1	-	14	3078	c.2327G>A	c.(2326-2328)CGA>CAA	p.R776Q	CAPRIN2_uc001rjf.1_Missense_Mutation_p.R573Q|CAPRIN2_uc001rjg.1_Missense_Mutation_p.R443Q|CAPRIN2_uc001rjh.1_Missense_Mutation_p.R727Q|CAPRIN2_uc001rjj.1_Missense_Mutation_p.R443Q|CAPRIN2_uc001rjk.3_Missense_Mutation_p.R776Q|CAPRIN2_uc001rjl.3_Missense_Mutation_p.R741Q|CAPRIN2_uc001rjm.1_Missense_Mutation_p.R408Q	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	776					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)					TTGTTCTTTTCGTGGAGGCAG	0.418													T	30869579	C	T	30869579	3	4	104	1	0	0	0	0	1	0	0	0	2636	884	31	1	1076	1	CAPRIN2	12	30869579	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	32277	30869579	102982316	4457	71071											
AMN1	196394	broad.mit.edu	37	chr12	31850304	31850304	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttaaaattacctctaatttCttcgcacaaggtccactaac	3	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:31850304C>A	uc001rkq.3	-	5	748	c.582G>T	c.(580-582)AAG>AAT	p.K194N	AMN1_uc001rko.3_Missense_Mutation_p.K176N|AMN1_uc010skc.1_Missense_Mutation_p.K176N|AMN1_uc001rkp.3_Missense_Mutation_p.K176N|AMN1_uc009zjs.2_RNA|AMN1_uc009zjt.1_RNA	NM_001113402	NP_001106873	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog	194											0	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			CCTCTAATTTCTTCGCACAAG	0.338													A	31850304	C	A	31850304	3	1	104	1	0	0	0	0	1	0	0	0	581	912	32	5	206	5	AMN1	12	31850304	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	980725	31850304	102001591	4458	71072											
FGD4	121512	broad.mit.edu	37	chr12	32735043	32735043	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagggaaatgatacagataAgactcagggtgcacagactt	12	7	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:32735043A>C	uc001rkz.2	+	4	719	c.242A>C	c.(241-243)AAG>ACG	p.K81T	FGD4_uc001rlc.2_Missense_Mutation_p.K166T|FGD4_uc001rky.2_5'UTR|FGD4_uc001rla.2_5'UTR|FGD4_uc010ske.1_Missense_Mutation_p.K193T|FGD4_uc001rlb.1_RNA|FGD4_uc001rkx.3_Missense_Mutation_p.K81T	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	81	Actin filament-binding (By similarity).				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GATACAGATAAGACTCAGGGT	0.498													C	32735043	A	C	32735043	3	2	104	1	0	0	0	0	1	0	0	0	5835	72	3	5	248	5	FGD4	12	32735043	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	884739	32735043	101116852	4459	71073											
SYT10	341359	broad.mit.edu	37	chr12	33559799	33559799	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acttcaaacaaattatcaagAatcacttccccaatcatgtc	2	12	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:33559799A>C	uc001rll.1	-	3	1299	c.1002T>G	c.(1000-1002)ATT>ATG	p.I334M	SYT10_uc009zju.1_Missense_Mutation_p.I144M	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	334	Cytoplasmic (Potential).|C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					AATTATCAAGAATCACTTCCC	0.363													C	33559799	A	C	33559799	3	2	104	1	0	0	0	0	1	0	0	0	15463	242	9	5	589	5	SYT10	12	33559799	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	824756	33559799	100292096	4460	71074											
KIF21A	55605	broad.mit.edu	37	chr12	39703566	39703566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attccatactttacaagtacGatctaaaacaaacacataaa	2	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:39703566G>A	uc001rly.2	-	33	4245	c.4099C>T	c.(4099-4101)CGT>TGT	p.R1367C	KIF21A_uc001rlv.2_Missense_Mutation_p.R312C|KIF21A_uc001rlw.2_Missense_Mutation_p.R637C|KIF21A_uc001rlx.2_Missense_Mutation_p.R1354C|KIF21A_uc001rlz.2_Missense_Mutation_p.R1314C|KIF21A_uc010skl.1_Missense_Mutation_p.R1330C|KIF21A_uc001rlt.2_5'UTR|KIF21A_uc001rlu.2_5'UTR	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1367	WD 1.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				TTACAAGTACGATCTAAAACA	0.323													A	39703566	G	A	39703566	3	1	104	1	0	0	0	0	1	0	0	0	8288	1058	37	1	949	1	KIF21A	12	39703566	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	6143767	39703566	94148329	4461	71075											
ABCD2	225	broad.mit.edu	37	chr12	39998622	39998622	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagctccattcttgctatgGctttcagattcttgaatgac	7	9	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:39998622G>A	uc001rmb.2	-	4	1773	c.1347C>T	c.(1345-1347)AGC>AGT	p.S449S		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D, member 2	449					fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						TCTTGCTATGGCTTTCAGATT	0.353													A	39998622	G	A	39998622	2	1	104	1	0	0	0	0	0	0	0	1	61	1194	42	2		2	ABCD2	12	39998622	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	295056	39998622	93853273	4462	71076											
C12orf40	283461	broad.mit.edu	37	chr12	40076662	40076662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtattaaacatagatgaGcaaaggataaagaaaacatt	7	3	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:40076662G>A	uc001rmc.2	+	8	1103	c.936G>A	c.(934-936)GAG>GAA	p.E312E	C12orf40_uc009zjv.1_RNA	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	hypothetical protein LOC283461	312										ovary(6)	6						ACATAGATGAGCAAAGGATAA	0.328													A	40076662	G	A	40076662	2	1	104	1	0	0	0	0	0	0	0	1	1686	962	34	2		2	C12orf40	12	40076662	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	78040	40076662	93775233	4463	71077											
LRRK2	120892	broad.mit.edu	37	chr12	40645114	40645114	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagggggaagaagataaaTtgttttggctggaagcctgt	15	3	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:40645114T>C	uc001rmg.3	+	9	1160	c.1039T>C	c.(1039-1041)TTG>CTG	p.L347L	LRRK2_uc001rmh.1_5'Flank	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	347	Potential.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGAAGATAAATTGTTTTGGCT	0.323											OREG0003829	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C	40645114	T	C	40645114	2	2	104	1	0	0	0	0	0	0	0	1	9033	1490	52	3		3	LRRK2	12	40645114	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	568452	40645114	93206781	4464	71078											
LRRK2	120892	broad.mit.edu	37	chr12	40681202	40681202	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagatatcagatgaaaagTgctgtggaagaaggaacagc	12	5	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:40681202T>C	uc001rmg.3	+	20	2671	c.2550T>C	c.(2548-2550)AGT>AGC	p.S850S	LRRK2_uc001rmh.1_Silent_p.S472S	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	850					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGATGAAAAGTGCTGTGGAAG	0.373													C	40681202	T	C	40681202	2	2	104	1	0	0	0	0	0	0	0	1	9033	1693	59	3		3	LRRK2	12	40681202	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	36088	40681202	93170693	4465	71079											
LRRK2	120892	broad.mit.edu	37	chr12	40715849	40715849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttttagaacgagcacttcGcccaaacagaatgtattggc	8	9	0	2	rs145364431		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:40715849G>A	uc001rmg.3	+	36	5304	c.5183G>A	c.(5182-5184)CGC>CAC	p.R1728H	LRRK2_uc009zjw.2_Missense_Mutation_p.R566H|LRRK2_uc001rmi.2_Missense_Mutation_p.R561H	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1728			R -> L (in PARK8).|R -> H (in PARK8).		activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CGAGCACTTCGCCCAAACAGA	0.378													A	40715849	G	A	40715849	3	1	104	1	0	0	0	0	1	0	0	0	9033	1087	38	1	5325	1	LRRK2	12	40715849	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	34647	40715849	93136046	4466	71080											
CNTN1	1272	broad.mit.edu	37	chr12	41316077	41316077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatggagaatgaataatgggGacgttgatctcacaagtgat	13	4	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:41316077G>A	uc001rmm.1	+	5	360	c.247G>A	c.(247-249)GAC>AAC	p.D83N	CNTN1_uc009zjy.1_Missense_Mutation_p.D83N|CNTN1_uc001rmn.1_Missense_Mutation_p.D72N|CNTN1_uc001rmo.2_Missense_Mutation_p.D83N	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	83	Ig-like C2-type 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAATAATGGGGACGTTGATCT	0.388													A	41316077	G	A	41316077	3	1	104	1	0	0	0	0	1	0	0	0	3640	1174	41	4	261	4	CNTN1	12	41316077	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	600228	41316077	92535818	4467	71081											
CNTN1	1272	broad.mit.edu	37	chr12	41327516	41327516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtcctgttccggatatccGatggcggaaggttctagaac	12	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:41327516G>A	uc001rmm.1	+	9	934	c.821G>A	c.(820-822)CGA>CAA	p.R274Q	CNTN1_uc009zjy.1_Missense_Mutation_p.R274Q|CNTN1_uc001rmn.1_Missense_Mutation_p.R263Q|CNTN1_uc001rmo.2_Missense_Mutation_p.R274Q	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	274	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CCGGATATCCGATGGCGGAAG	0.373													A	41327516	G	A	41327516	3	1	104	1	0	0	0	0	1	0	0	0	3640	1058	37	1	851	1	CNTN1	12	41327516	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	11439	41327516	92524379	4468	71082											
PDZRN4	29951	broad.mit.edu	37	chr12	41967456	41967456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggccaaagagcagcgccgtCgccgtgagttcatgatgcga	15	11	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:41967456C>T	uc010skn.1	+	10	2346	c.2278C>T	c.(2278-2280)CGC>TGC	p.R760C	PDZRN4_uc001rmq.3_Missense_Mutation_p.R701C|PDZRN4_uc009zjz.2_Missense_Mutation_p.R699C|PDZRN4_uc001rmr.2_Missense_Mutation_p.R586C	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	959	Poly-Arg.						ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCAGCGCCGTCGCCGTGAGTT	0.537													T	41967456	C	T	41967456	3	4	104	1	0	0	0	0	1	0	0	0	11710	884	31	1	2986	1	PDZRN4	12	41967456	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	639940	41967456	91884439	4469	71083											
GXYLT1	283464	broad.mit.edu	37	chr12	42512847	42512847	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatcttcagcaaaaatatgGaattgaagaggtttgatgct	10	4	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:42512847G>A	uc001rms.3	-	3	666	c.441C>T	c.(439-441)TTC>TTT	p.F147F	GXYLT1_uc001rmt.3_Silent_p.F116F	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	glycosyltransferase 8 domain containing 3	147	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0						CAAAAATATGGAATTGAAGAG	0.348													A	42512847	G	A	42512847	2	1	104	1	0	0	0	0	0	0	0	1	6903	1165	41	4		4	GXYLT1	12	42512847	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	545391	42512847	91339048	4470	71084											
PPHLN1	51535	broad.mit.edu	37	chr12	42836453	42836453	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcggccagagtctgcaggAcagacttggcagcaggtacc	14	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:42836453A>G	uc001rng.1	+	11	1140	c.1035A>G	c.(1033-1035)GGA>GGG	p.G345G	PPHLN1_uc010skr.1_Silent_p.G290G|PPHLN1_uc010sks.1_Silent_p.G271G|PPHLN1_uc010skt.1_Silent_p.G225G|PPHLN1_uc001rni.1_Silent_p.G290G|PPHLN1_uc001rnh.1_RNA|PPHLN1_uc010sku.1_Intron	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	periphilin 1 isoform 1	345					keratinization	cytoplasm|nucleus				ovary(1)|breast(1)	2	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		agtctgcaggacagacttggc	0.01													G	42836453	A	G	42836453	2	3	104	1	0	0	0	0	0	0	0	1	12315	262	10	3		3	PPHLN1	12	42836453	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	323606	42836453	91015442	4471	71085											
PRICKLE1	144165	broad.mit.edu	37	chr12	42854435	42854435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagagaatacaatgatgGccttggcttgttttctccat	9	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:42854435G>A	uc010skv.1	-	8	1959	c.1672C>T	c.(1672-1674)CCA>TCA	p.P558S	PRICKLE1_uc001rnl.2_Missense_Mutation_p.P558S|PRICKLE1_uc010skw.1_Missense_Mutation_p.P558S|PRICKLE1_uc001rnm.2_Missense_Mutation_p.P558S|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	558					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TACAATGATGGCCTTGGCTTG	0.418													A	42854435	G	A	42854435	3	1	104	1	0	0	0	0	1	0	0	0	12486	1203	42	2	827	2	PRICKLE1	12	42854435	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	17982	42854435	90997460	4472	71086											
ADAMTS20	80070	broad.mit.edu	37	chr12	43771280	43771280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gataaactataggccgaagtCgatggagcttatgtttctta	10	6	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:43771280C>T	uc010skx.1	-	32	4883	c.4883G>A	c.(4882-4884)CGA>CAA	p.R1628Q		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1628	TSP type-1 14.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGGCCGAAGTCGATGGAGCTT	0.408													T	43771280	C	T	43771280	3	4	104	1	0	0	0	0	1	0	0	0	266	884	31	1	880	1	ADAMTS20	12	43771280	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	916845	43771280	90080615	4473	71087											
ADAMTS20	80070	broad.mit.edu	37	chr12	43777440	43777440	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgtaagagatatggttgaaGaattatagactatttcattc	8	3	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:43777440G>T	uc010skx.1	-	31	4718	c.4718C>A	c.(4717-4719)TCT>TAT	p.S1573Y		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1573	TSP type-1 13.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TATGGTTGAAGAATTATAGAC	0.373													T	43777440	G	T	43777440	3	4	104	1	0	0	0	0	1	0	0	0	266	942	33	5	1049	5	ADAMTS20	12	43777440	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	6160	43777440	90074455	4474	71088											
ADAMTS20	80070	broad.mit.edu	37	chr12	43840416	43840416	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accataatgagaactgttgaAgacacctgttattgtcttgc	8	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:43840416A>C	uc010skx.1	-	15	2179	c.2179T>G	c.(2179-2181)TTC>GTC	p.F727V		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	727	Spacer.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GAACTGTTGAAGACACCTGTT	0.383													C	43840416	A	C	43840416	3	2	104	1	0	0	0	0	1	0	0	0	266	72	3	5	3652	5	ADAMTS20	12	43840416	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	62976	43840416	90011479	4475	71089											
ADAMTS20	80070	broad.mit.edu	37	chr12	43847773	43847773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatgttcttgaacaagaaCtgtaaggttcccatggtccc	8	11	1	2	rs147849669		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:43847773C>T	uc010skx.1	-	12	1697	c.1697G>A	c.(1696-1698)AGT>AAT	p.S566N		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	566	TSP type-1 1.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGAACAAGAACTGTAAGGTTC	0.403													T	43847773	C	T	43847773	3	4	104	1	0	0	0	0	1	0	0	0	266	565	20	4	4146	4	ADAMTS20	12	43847773	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7357	43847773	90004122	4476	71090											
NELL2	4753	broad.mit.edu	37	chr12	44913847	44913847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaagaggacccggtgaagcGaaccacattcatttcgtcca	9	13	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:44913847G>A	uc001rog.2	-	19	2936	c.2341C>T	c.(2341-2343)CGC>TGC	p.R781C	NELL2_uc001rof.3_Missense_Mutation_p.R780C|NELL2_uc001roh.2_Missense_Mutation_p.R781C|NELL2_uc009zkd.2_Missense_Mutation_p.R733C|NELL2_uc010skz.1_Missense_Mutation_p.R831C|NELL2_uc010sla.1_Missense_Mutation_p.R804C	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	781	VWFC 5.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CCGGTGAAGCGAACCACATTC	0.502													A	44913847	G	A	44913847	3	1	104	1	0	0	0	0	1	0	0	0	10334	1058	37	1	117	1	NELL2	12	44913847	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1066074	44913847	88938048	4477	71091											
NELL2	4753	broad.mit.edu	37	chr12	44915858	44915858	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttccccattttgatggagGcactgactactaagccttgg	10	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:44915858G>A	uc001rog.2	-	18	2695	c.2100C>T	c.(2098-2100)TGC>TGT	p.C700C	NELL2_uc001rof.3_Silent_p.C699C|NELL2_uc001roh.2_Silent_p.C700C|NELL2_uc009zkd.2_Silent_p.C652C|NELL2_uc010skz.1_Silent_p.C750C|NELL2_uc010sla.1_Silent_p.C723C	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	700	VWFC 4.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTTGATGGAGGCACTGACTAC	0.458													A	44915858	G	A	44915858	2	1	104	1	0	0	0	0	0	0	0	1	10334	1195	42	2		2	NELL2	12	44915858	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2011	44915858	88936037	4478	71092											
NELL2	4753	broad.mit.edu	37	chr12	44917221	44917221	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatccaaattgaagcaaatGgtatcattggcacagctgtg	9	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:44917221G>T	uc001rog.2	-	17	2446	c.1851C>A	c.(1849-1851)ACC>ACA	p.T617T	NELL2_uc001rof.3_Silent_p.T616T|NELL2_uc001roh.2_Silent_p.T617T|NELL2_uc009zkd.2_Silent_p.T569T|NELL2_uc010skz.1_Silent_p.T667T|NELL2_uc010sla.1_Silent_p.T640T|NELL2_uc001roi.1_Silent_p.T617T	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	617	EGF-like 6; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGAAGCAAATGGTATCATTGG	0.433													T	44917221	G	T	44917221	2	4	104	1	0	0	0	0	0	0	0	1	10334	1335	47	5		5	NELL2	12	44917221	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1363	44917221	88934674	4479	71093											
NELL2	4753	broad.mit.edu	37	chr12	45173782	45173782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgacttcattccgatggCcactactttccagttccagg	8	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:45173782C>T	uc001rog.2	-	4	954	c.359G>A	c.(358-360)GGC>GAC	p.G120D	NELL2_uc001rof.3_Missense_Mutation_p.G119D|NELL2_uc001roh.2_Missense_Mutation_p.G120D|NELL2_uc009zkd.2_Missense_Mutation_p.G119D|NELL2_uc010skz.1_Missense_Mutation_p.G170D|NELL2_uc010sla.1_Missense_Mutation_p.G143D|NELL2_uc001roi.1_Missense_Mutation_p.G120D|NELL2_uc010slb.1_Missense_Mutation_p.G119D|NELL2_uc001roj.2_Missense_Mutation_p.G120D	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	120	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ATTCCGATGGCCACTACTTTC	0.423													T	45173782	C	T	45173782	3	4	104	1	0	0	0	0	1	0	0	0	10334	739	26	2	2159	2	NELL2	12	45173782	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	256561	45173782	88678113	4480	71094											
ANO6	196527	broad.mit.edu	37	chr12	45740823	45740823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaggaaaagacaagcatacGaatctaaccttatctgtcat	7	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:45740823G>A	uc001roo.2	+	4	633	c.298G>A	c.(298-300)GAA>AAA	p.E100K	ANO6_uc010sld.1_Missense_Mutation_p.E100K|ANO6_uc010sle.1_Missense_Mutation_p.E100K|ANO6_uc010slf.1_Missense_Mutation_p.E121K|ANO6_uc010slg.1_Missense_Mutation_p.E82K	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	100	Cytoplasmic (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						ACAAGCATACGAATCTAACCT	0.393													A	45740823	G	A	45740823	3	1	104	1	0	0	0	0	1	0	0	0	701	1059	37	1	332	1	ANO6	12	45740823	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	567041	45740823	88111072	4481	71095											
SFRS2IP	9169	broad.mit.edu	37	chr12	46320292	46320292	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggttagatacccaaccagaAccaaagtttttattccaaga	6	10	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:46320292A>G	uc001rox.2	-	11	3479	c.3192T>C	c.(3190-3192)GGT>GGC	p.G1064G	SFRS2IP_uc001row.2_Silent_p.G749G|SFRS2IP_uc001roy.1_Silent_p.G1138G	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	1064					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		CCCAACCAGAACCAAAGTTTT	0.413													G	46320292	A	G	46320292	2	3	104	1	0	0	0	0	0	0	0	1	14177	30	2	3		3	SFRS2IP	12	46320292	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	579469	46320292	87531603	4482	71096											
SFRS2IP	9169	broad.mit.edu	37	chr12	46320408	46320408	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggcccagagtttattttttCtgttatccaattgggacagt	9	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:46320408C>A	uc001rox.2	-	11	3363	c.3076G>T	c.(3076-3078)GAA>TAA	p.E1026*	SFRS2IP_uc001row.2_Nonsense_Mutation_p.E711*|SFRS2IP_uc001roy.1_Nonsense_Mutation_p.E1100*	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	1026					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		TTTATTTTTTCTGTTATCCAA	0.338													A	46320408	C	A	46320408	4	1	104	1	0	0	0	0	0	1	0	0	14177	922	32	5	1335	5	SFRS2IP	12	46320408	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	116	46320408	87531487	4483	71097											
SFRS2IP	9169	broad.mit.edu	37	chr12	46326965	46326965	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgacaattccagttcatgtCtcttctgcctaatcaatgca	5	11	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:46326965C>A	uc001rox.2	-	9	970	c.683G>T	c.(682-684)AGA>ATA	p.R228I	SFRS2IP_uc001roy.1_Missense_Mutation_p.R302I	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	228					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		CAGTTCATGTCTCTTCTGCCT	0.323													A	46326965	C	A	46326965	3	1	104	1	0	0	0	0	1	0	0	0	14177	913	32	5	3736	5	SFRS2IP	12	46326965	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	6557	46326965	87524930	4484	71098											
SLC38A4	55089	broad.mit.edu	37	chr12	47178396	47178396	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccaaatgccttttctcctAatttttcataaatcaaagac	2	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:47178396A>G	uc001rpi.2	-	7	821	c.422T>C	c.(421-423)TTA>TCA	p.L141S	SLC38A4_uc001rpj.2_Missense_Mutation_p.L141S|SLC38A4_uc009zkl.2_Missense_Mutation_p.L141S	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	141	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Lung SC(27;0.192)|Renal(347;0.236)					CTTTTCTCCTAATTTTTCATA	0.333													G	47178396	A	G	47178396	3	3	104	1	0	0	0	0	1	0	0	0	14606	372	13	3	1265	3	SLC38A4	12	47178396	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	851431	47178396	86673499	4485	71099											
FAM113B	91523	broad.mit.edu	37	chr12	47629778	47629778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcccaccccagcgcttgcCgctgctcccgctcctgtccc	8	22	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:47629778C>T	uc001rpn.2	+	4	1663	c.932C>T	c.(931-933)CCG>CTG	p.P311L	FAM113B_uc001rpq.2_Missense_Mutation_p.P311L	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	311	Pro-rich.						hydrolase activity			skin(3)|ovary(2)	5	Renal(347;0.138)|Lung SC(27;0.192)					cagcgcttgccgctgctcccg	0.249													T	47629778	C	T	47629778	3	4	104	1	0	0	0	0	1	0	0	0	5402	652	23	1	934	1	FAM113B	12	47629778	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	451382	47629778	86222117	4486	71100											
RPAP3	79657	broad.mit.edu	37	chr12	48096524	48096524	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catatccttttgtttaatgtCtttttcccagttttctaaat	3	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:48096524C>A	uc001rpr.2	-	2	216	c.100G>T	c.(100-102)GAC>TAC	p.D34Y	RPAP3_uc010slk.1_Intron|RPAP3_uc001rps.2_Missense_Mutation_p.D34Y	NM_024604	NP_078880	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3 isoform	34	TPR 1.						binding			ovary(1)	1	Lung SC(27;0.192)					TGTTTAATGTCTTTTTCCCAG	0.308													A	48096524	C	A	48096524	3	1	104	1	0	0	0	0	1	0	0	0	13543	913	32	5	1961	5	RPAP3	12	48096524	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	466746	48096524	85755371	4487	71101											
COL2A1	1280	broad.mit.edu	37	chr12	48380929	48380929	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agggccccgtggcccagggaAgccaggagcaccagcaatgc	15	14	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:48380929A>C	uc001rqu.2	-	21	1478	c.1297T>G	c.(1297-1299)TTC>GTC	p.F433V	COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.F364V	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	433	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGCCCAGGGAAGCCAGGAGCA	0.642													C	48380929	A	C	48380929	3	2	104	1	0	0	0	0	1	0	0	0	3687	72	3	5	3302	5	COL2A1	12	48380929	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	284405	48380929	85470966	4488	71102											
OR8S1	341568	broad.mit.edu	37	chr12	48919915	48919915	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcctagctgtaaacatggtCttttgtgaagccaaaatcat	7	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:48919915C>A	uc010slu.1	+	1	501	c.501C>A	c.(499-501)GTC>GTA	p.V167V		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TAAACATGGTCTTTTGTGAAG	0.498													A	48919915	C	A	48919915	2	1	104	1	0	0	0	0	0	0	0	1	11246	900	32	5		5	OR8S1	12	48919915	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	538986	48919915	84931980	4489	71103											
CCNT1	904	broad.mit.edu	37	chr12	49087086	49087086	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgggccctttatccagtttCgaatgagggacacgagtttt	12	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:49087086C>T	uc001rse.1	-	9	2234	c.1911G>A	c.(1909-1911)TCG>TCA	p.S637S	LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Silent_p.S352S	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	637					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			ovary(3)|lung(1)|breast(1)|skin(1)	6						TATCCAGTTTCGAATGAGGGA	0.512													T	49087086	C	T	49087086	2	4	104	1	0	0	0	0	0	0	0	1	2934	871	31	1		1	CCNT1	12	49087086	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	167171	49087086	84764809	4490	71104											
CCNT1	904	broad.mit.edu	37	chr12	49099624	49099624	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgatgacatgttccaatTttttgggctgctcctccact	7	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:49099624T>G	uc001rse.1	-	3	622	c.299A>C	c.(298-300)AAA>ACA	p.K100T	CCNT1_uc009zkz.1_5'UTR	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	100					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			ovary(3)|lung(1)|breast(1)|skin(1)	6						ATGTTCCAATTTTTTGGGCTG	0.388													G	49099624	T	G	49099624	3	3	104	1	0	0	0	0	1	0	0	0	2934	1841	64	5	1909	5	CCNT1	12	49099624	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	12538	49099624	84752271	4491	71105											
CCDC65	85478	broad.mit.edu	37	chr12	49298822	49298822	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcgggaagtcaagaccagaGaacttcataaggacattgag	11	7	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:49298822G>T	uc001rso.2	+	2	453	c.226G>T	c.(226-228)GAA>TAA	p.E76*		NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	76										ovary(1)|skin(1)	2						CAAGACCAGAGAACTTCATAA	0.458													T	49298822	G	T	49298822	4	4	104	1	0	0	0	0	0	1	0	0	2837	943	33	5	232	5	CCDC65	12	49298822	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	199198	49298822	84553073	4492	71106											
LMBR1L	55716	broad.mit.edu	37	chr12	49494202	49494202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagacaggaagtgctgaGcttaggaccaggagacagac	15	7	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:49494202G>A	uc001rth.3	-	15	1551	c.1209C>T	c.(1207-1209)AGC>AGT	p.S403S	LMBR1L_uc001rtg.3_Silent_p.S398S|LMBR1L_uc001rti.3_Silent_p.S383S	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN	lipocalin-interacting membrane receptor	403	Helical; (Potential).				endocytosis	integral to membrane|plasma membrane	receptor activity			pancreas(1)	1						GAAGTGCTGAGCTTAGGACCA	0.428													A	49494202	G	A	49494202	2	1	104	1	0	0	0	0	0	0	0	1	8841	962	34	2		2	LMBR1L	12	49494202	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	195380	49494202	84357693	4493	71107											
MCRS1	10445	broad.mit.edu	37	chr12	49959911	49959911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaaggcctgggaggaggctCgcttctgccctgccagtgac	14	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:49959911C>T	uc001ruk.1	-	3	289	c.98G>A	c.(97-99)CGA>CAA	p.R33Q	MCRS1_uc001rui.1_Missense_Mutation_p.R46Q|MCRS1_uc001ruj.1_Missense_Mutation_p.R20Q|MCRS1_uc001rul.1_Missense_Mutation_p.R33Q|MCRS1_uc009zlj.1_Intron|MCRS1_uc001rum.1_Missense_Mutation_p.R20Q|MCRS1_uc001run.1_Missense_Mutation_p.R33Q	NM_006337	NP_006328	Q96EZ8	MCRS1_HUMAN	microspherule protein 1 isoform 1	33	Ser-rich.				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			large_intestine(1)	1						GGAGGAGGCTCGCTTCTGCCC	0.582													T	49959911	C	T	49959911	3	4	104	1	0	0	0	0	1	0	0	0	9399	884	31	1	1342	1	MCRS1	12	49959911	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	465709	49959911	83891984	4494	71108											
PRPF40B	25766	broad.mit.edu	37	chr12	50028234	50028234	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcaaggaactgctgagggAcaaggtgctggagtggggct	17	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:50028234A>G	uc001rur.1	+	10	930	c.866A>G	c.(865-867)GAC>GGC	p.D289G	PRPF40B_uc001rup.1_Missense_Mutation_p.D311G|PRPF40B_uc001ruq.1_Missense_Mutation_p.D283G|PRPF40B_uc001rus.1_Missense_Mutation_p.D232G	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Huntingtin interacting protein C isoform 1	289	FF 1.				mRNA processing|RNA splicing	nuclear speck				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						CTGCTGAGGGACAAGGTGCTG	0.612													G	50028234	A	G	50028234	3	3	104	1	0	0	0	0	1	0	0	0	12572	275	10	3	904	3	PRPF40B	12	50028234	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	68323	50028234	83823661	4495	71109											
NCKAP5L	57701	broad.mit.edu	37	chr12	50196943	50196943	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcctgggcaagtgccgagttCtctgcctgcaggagtgaggg	17	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:50196943C>A	uc009zlk.2	-	4	331	c.129G>T	c.(127-129)GAG>GAT	p.E43D		NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	39	Potential.									central_nervous_system(1)	1						GTGCCGAGTTCTCTGCCTGCA	0.572													A	50196943	C	A	50196943	3	1	104	1	0	0	0	0	1	0	0	0	10224	912	32	5	3915	5	NCKAP5L	12	50196943	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	168709	50196943	83654952	4496	71110											
AQP5	362	broad.mit.edu	37	chr12	50357924	50357924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccgctcttttggccctgCggtggtcatgaatcggttca	12	12	3	1	rs117761535	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:50357924C>T	uc001rvo.2	+	3	1100	c.578C>T	c.(577-579)GCG>GTG	p.A193V		NM_001651	NP_001642	P55064	AQP5_HUMAN	aquaporin 5	193	Extracellular (Potential).				carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity				0						TTTGGCCCTGCGGTGGTCATG	0.612													T	50357924	C	T	50357924	3	4	104	1	0	0	0	0	1	0	0	0	829	768	27	1	588	1	AQP5	12	50357924	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	160981	50357924	83493971	4497	71111											
LARP4	113251	broad.mit.edu	37	chr12	50860866	50860866	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaactcgttttggagaataGgatgtctgatgttgttaaag	12	3	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:50860866G>T	uc001rwp.1	+	13	1652	c.1508G>T	c.(1507-1509)AGG>ATG	p.R503M	LARP4_uc001rwo.1_Missense_Mutation_p.R509M|LARP4_uc001rwq.1_Missense_Mutation_p.R432M|LARP4_uc001rwr.1_Missense_Mutation_p.R432M|LARP4_uc001rws.1_Missense_Mutation_p.R502M|LARP4_uc009zlr.1_Missense_Mutation_p.R322M|LARP4_uc001rwt.1_Missense_Mutation_p.R94M	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	c-Mpl binding protein isoform a	503							nucleotide binding|RNA binding			ovary(1)	1						TTGGAGAATAGGATGTCTGAT	0.393													T	50860866	G	T	50860866	3	4	104	1	0	0	0	0	1	0	0	0	8630	1000	35	5	1562	5	LARP4	12	50860866	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	502942	50860866	82991029	4498	71112											
DIP2B	57609	broad.mit.edu	37	chr12	51069154	51069154	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctacaaaaatccagcagcTtctgaacactctgaaacgac	5	12	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:51069154T>G	uc001rwv.2	+	7	995	c.839T>G	c.(838-840)CTT>CGT	p.L280R	DIP2B_uc001rwu.2_Missense_Mutation_p.L280R|DIP2B_uc009zls.1_Missense_Mutation_p.L162R	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	280						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						ATCCAGCAGCTTCTGAACACT	0.363													G	51069154	T	G	51069154	3	3	104	1	0	0	0	0	1	0	0	0	4528	1609	56	5	865	5	DIP2B	12	51069154	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	208288	51069154	82782741	4499	71113											
DIP2B	57609	broad.mit.edu	37	chr12	51133264	51133264	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcgagactcttcaagctgatCatttcaacactcgcctcagc	7	14	5	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:51133264C>A	uc001rwv.2	+	36	4405	c.4249C>A	c.(4249-4251)CAT>AAT	p.H1417N	DIP2B_uc009zlt.2_Missense_Mutation_p.H847N	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	1417						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						TCAAGCTGATCATTTCAACAC	0.517													A	51133264	C	A	51133264	3	1	104	1	0	0	0	0	1	0	0	0	4528	826	29	5	4391	5	DIP2B	12	51133264	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	64110	51133264	82718631	4500	71114											
DAZAP2	9802	broad.mit.edu	37	chr12	51636389	51636389	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccaaactttcaggcacTtttcaaatttaataaggaac	6	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:51636389T>C	uc010snd.1	+	4	761	c.577T>C	c.(577-579)TTT>CTT	p.F193L	DAZAP2_uc001ryb.2_3'UTR|DAZAP2_uc010snc.1_3'UTR|DAZAP2_uc010sne.1_3'UTR|DAZAP2_uc010snf.1_Intron	NM_001136266	NP_001129738	Q15038	DAZP2_HUMAN	DAZ associated protein 2 isoform c	Error:Variant_position_missing_in_Q15038_after_alignment							WW domain binding				0						TTTCAGGCACTTTTCAAATTT	0.408													C	51636389	T	C	51636389	3	2	104	1	0	0	0	0	1	0	0	0	4245	1609	56	3	668	3	DAZAP2	12	51636389	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	503125	51636389	82215506	4501	71115											
ANKRD33	341405	broad.mit.edu	37	chr12	52284396	52284396	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagcagtggaccctgtTcggggcaagacggccctgga	15	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:52284396T>C	uc001rzf.3	+	5	870	c.291T>C	c.(289-291)GTT>GTC	p.V97V	ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzd.2_Silent_p.V222V|ANKRD33_uc001rze.2_Silent_p.V118V|ANKRD33_uc001rzg.3_Silent_p.V24V|ANKRD33_uc001rzi.3_Silent_p.V97V	NM_001130015	NP_001123487	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33 isoform 1	97											0				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TGGACCCTGTTCGGGGCAAGA	0.612													C	52284396	T	C	52284396	2	2	104	1	0	0	0	0	0	0	0	1	661	1770	62	3		3	ANKRD33	12	52284396	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	648007	52284396	81567499	4502	71116											
KRT7	3855	broad.mit.edu	37	chr12	52636852	52636852	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacgacctccggaatacccgGaatgagatttcagagatgaa	11	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:52636852G>A	uc001saa.1	+	6	1042	c.915G>A	c.(913-915)CGG>CGA	p.R305R	KRT7_uc009zmf.1_Silent_p.R305R	NM_005556	NP_005547	P08729	K2C7_HUMAN	keratin 7	305	Rod.|Coil 2.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.105)		GGAATACCCGGAATGAGATTT	0.577													A	52636852	G	A	52636852	2	1	104	1	0	0	0	0	0	0	0	1	8483	1161	41	4		4	KRT7	12	52636852	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	352456	52636852	81215043	4503	71117											
KRT82	3888	broad.mit.edu	37	chr12	52799669	52799669	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accttgttgatgaaagatgcGaaacggttgttgaggcactt	12	6	0	4	rs149898957		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:52799669G>A	uc001sai.1	-	1	508	c.393C>T	c.(391-393)TTC>TTT	p.F131F		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	keratin 82	131	Coil 1A.|Rod.					keratin filament	protein binding|structural constituent of epidermis			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.193)		TGAAAGATGCGAAACGGTTGT	0.567													A	52799669	G	A	52799669	2	1	104	1	0	0	0	0	0	0	0	1	8496	1049	37	1		1	KRT82	12	52799669	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	162817	52799669	81052226	4504	71118											
KRT6C	286887	broad.mit.edu	37	chr12	52862857	52862857	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcactttagtgcttgtAgctcttcctgctggaggagg	14	9	1	0	rs147501308		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:52862857A>G	uc001sal.3	-	9	1732	c.1684T>C	c.(1684-1686)TAC>CAC	p.Y562H		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	562	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TAGTGCTTGTAGCTCTTCCTG	0.607													G	52862857	A	G	52862857	3	3	104	1	0	0	0	0	1	0	0	0	8482	420	15	3	14	3	KRT6C	12	52862857	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	63188	52862857	80989038	4505	71119											
KRT6C	286887	broad.mit.edu	37	chr12	52865480	52865480	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcagagtcacaaattcattCtctgctgctgtgcgcttgtt	8	10	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:52865480C>A	uc001sal.3	-	3	840	c.792G>T	c.(790-792)GAG>GAT	p.E264D		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	264	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CAAATTCATTCTCTGCTGCTG	0.473													A	52865480	C	A	52865480	3	1	104	1	0	0	0	0	1	0	0	0	8482	912	32	5	930	5	KRT6C	12	52865480	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2623	52865480	80986415	4506	71120											
KRT72	140807	broad.mit.edu	37	chr12	52994829	52994829	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accttgtcgatgaaggaggcGaacttgttgtttagcgcctt	12	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:52994829G>A	uc001sar.2	-	1	494	c.408C>T	c.(406-408)TTC>TTT	p.F136F	KRT72_uc001saq.2_Silent_p.F136F|KRT72_uc010sns.1_Silent_p.F136F|KRT72_uc010snt.1_5'UTR	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN	keratin 72 isoform 1	136	Coil 1A.|Rod.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGAAGGAGGCGAACTTGTTGT	0.537													A	52994829	G	A	52994829	2	1	104	1	0	0	0	0	0	0	0	1	8485	1049	37	1		1	KRT72	12	52994829	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	129349	52994829	80857066	4507	71121											
KRT1	3848	broad.mit.edu	37	chr12	53074020	53074020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaccacctcctccactgCggcgtgtggagctgctggtg	12	16	0	0	rs34787940	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:53074020C>T	uc001sau.1	-	1	172	c.113G>A	c.(112-114)CGC>CAC	p.R38H	KRT1_uc001sav.1_Missense_Mutation_p.R38H	NM_006121	NP_006112	P04264	K2C1_HUMAN	keratin 1	38	Head.|Gly/Phe/Ser-rich.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			ovary(1)|skin(1)	2						TCCTCCACTGCGGCGTGTGGA	0.453													T	53074020	C	T	53074020	3	4	104	1	0	0	0	0	1	0	0	0	8447	768	27	1	1857	1	KRT1	12	53074020	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	79191	53074020	80777875	4508	71122											
KRT76	51350	broad.mit.edu	37	chr12	53170559	53170559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacttgcccaatctgggggtCgatctccacattgaggggct	12	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:53170559C>T	uc001sax.2	-	1	571	c.517G>A	c.(517-519)GAC>AAC	p.D173N		NM_015848	NP_056932	Q01546	K22O_HUMAN	keratin 76	173	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|skin(1)	2						ATCTGGGGGTCGATCTCCACA	0.502													T	53170559	C	T	53170559	3	4	104	1	0	0	0	0	1	0	0	0	8489	884	31	1	1435	1	KRT76	12	53170559	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	96539	53170559	80681336	4509	71123											
KRT4	3851	broad.mit.edu	37	chr12	53202570	53202570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtccaggtccaggttgCggttgttgtccatggaaagg	15	8	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:53202570C>T	uc001saz.2	-	5	1392	c.1121G>A	c.(1120-1122)CGC>CAC	p.R374H		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	keratin 4	300						keratin filament	structural molecule activity			ovary(4)|skin(2)	6						GTCCAGGTTGCGGTTGTTGTC	0.592													T	53202570	C	T	53202570	3	4	104	1	0	0	0	0	1	0	0	0	8477	768	27	1	683	1	KRT4	12	53202570	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	32011	53202570	80649325	4510	71124											
CSAD	51380	broad.mit.edu	37	chr12	53564258	53564258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgccaagtcccagaaacGcagctcccttctggatggag	12	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:53564258G>A	uc001sby.2	-	8	722	c.596C>T	c.(595-597)GCG>GTG	p.A199V	CSAD_uc001sbw.2_Missense_Mutation_p.A52V|CSAD_uc009zmt.2_5'UTR|CSAD_uc010snx.1_Missense_Mutation_p.A226V|CSAD_uc001sbz.2_Missense_Mutation_p.A199V|CSAD_uc009zmu.2_Missense_Mutation_p.A52V|CSAD_uc001sca.3_RNA	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	199					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TCCCAGAAACGCAGCTCCCTT	0.552									Hereditary_Prostate_Cancer				A	53564258	G	A	53564258	3	1	104	1	0	0	0	0	1	0	0	0	3925	1087	38	1	921	1	CSAD	12	53564258	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	361688	53564258	80287637	4511	71125											
ESPL1	9700	broad.mit.edu	37	chr12	53680078	53680078	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtctggatctgctgcaggtCgtgctgaagggctgtcctga	16	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:53680078C>T	uc001sck.2	+	18	3649	c.3558C>T	c.(3556-3558)GTC>GTT	p.V1186V	ESPL1_uc001scj.2_Silent_p.V861V|ESPL1_uc010soe.1_Intron	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1186					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						TGCTGCAGGTCGTGCTGAAGG	0.617													T	53680078	C	T	53680078	2	4	104	1	0	0	0	0	0	0	0	1	5253	871	31	1		1	ESPL1	12	53680078	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	115820	53680078	80171817	4512	71126											
MAP3K12	7786	broad.mit.edu	37	chr12	53880773	53880773	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggagtaggctttgccaaTcatggtccagacagggcgca	14	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:53880773T>C	uc001sdm.1	-	3	402	c.304A>G	c.(304-306)ATT>GTT	p.I102V	MAP3K12_uc001sdn.1_Missense_Mutation_p.I135V	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	102					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						GCTTTGCCAATCATGGTCCAG	0.602													C	53880773	T	C	53880773	3	2	104	1	0	0	0	0	1	0	0	0	9246	1435	50	3	2327	3	MAP3K12	12	53880773	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	200695	53880773	79971122	4513	71127											
HOXC12	3228	broad.mit.edu	37	chr12	54350167	54350167	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaagcgcaagccctattcGaagttgcaactggcagagct	11	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:54350167G>A	uc010soq.1	+	2	666	c.666G>A	c.(664-666)TCG>TCA	p.S222S		NM_173860	NP_776272	P31275	HXC12_HUMAN	homeobox C12	222	Homeobox.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1						AGCCCTATTCGAAGTTGCAAC	0.582													A	54350167	G	A	54350167	2	1	104	1	0	0	0	0	0	0	0	1	7311	1045	37	1		1	HOXC12	12	54350167	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	469394	54350167	79501728	4514	71128											
HOXC6	3223	broad.mit.edu	37	chr12	54423519	54423519	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggaactggagaaggaatttCacttcaatcgctacctaacg	9	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:54423519C>A	uc001sev.2	+	2	593	c.481C>A	c.(481-483)CAC>AAC	p.H161N	HOXC6_uc001ses.2_Missense_Mutation_p.H79N|HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron	NM_004503	NP_004494	P09630	HXC6_HUMAN	homeobox C6 isoform 1	161	Homeobox.				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|upper_aerodigestive_tract(1)	3						GAAGGAATTTCACTTCAATCG	0.602													A	54423519	C	A	54423519	3	1	104	1	0	0	0	0	1	0	0	0	7315	826	29	5	487	5	HOXC6	12	54423519	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	73352	54423519	79428376	4515	71129											
HOXC5	3222	broad.mit.edu	37	chr12	54428171	54428171	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgccgcaggcgcatagagatCgccaacaacttgtgtctcaa	10	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:54428171C>T	uc001sew.2	+	2	639	c.564C>T	c.(562-564)ATC>ATT	p.I188I	HOXC5_uc001set.2_RNA|HOXC4_uc001seu.2_Intron	NM_018953	NP_061826	Q00444	HXC5_HUMAN	homeobox C5	188	Homeobox.				regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GCATAGAGATCGCCAACAACT	0.498													T	54428171	C	T	54428171	2	4	104	1	0	0	0	0	0	0	0	1	7314	874	31	1		1	HOXC5	12	54428171	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4652	54428171	79423724	4516	71130											
OR6C3	254786	broad.mit.edu	37	chr12	55725556	55725556	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgaccttcagattgtgatTtttctctttttatttatcac	4	9	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:55725556T>G	uc010spj.1	+	1	72	c.72T>G	c.(70-72)ATT>ATG	p.I24M		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C,	24	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AGATTGTGATTTTTCTCTTTT	0.418													G	55725556	T	G	55725556	3	3	104	1	0	0	0	0	1	0	0	0	11192	1829	64	5	74	5	OR6C3	12	55725556	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1297385	55725556	78126339	4517	71131											
OR6C70	390327	broad.mit.edu	37	chr12	55863404	55863404	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgtcacaaatgaaatgAtcaatgatatttgaagcaca	7	5	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:55863404A>G	uc010spn.1	-	1	519	c.519T>C	c.(517-519)GAT>GAC	p.D173D		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C,	173	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AAATGAAATGATCAATGATAT	0.358													G	55863404	A	G	55863404	2	3	104	1	0	0	0	0	0	0	0	1	11197	330	12	3		3	OR6C70	12	55863404	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	137848	55863404	77988491	4518	71132											
OR6C68	403284	broad.mit.edu	37	chr12	55886733	55886733	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aataccatgctcagacacatCattaattgagcagatggttg	8	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:55886733C>A	uc010spo.1	+	1	587	c.587C>A	c.(586-588)TCA>TAA	p.S196*		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C,	191	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TCAGACACATCATTAATTGAG	0.353													A	55886733	C	A	55886733	4	1	104	1	0	0	0	0	0	1	0	0	11196	838	29	5	589	5	OR6C68	12	55886733	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	23329	55886733	77965162	4519	71133											
DNAJC14	85406	broad.mit.edu	37	chr12	56215887	56215887	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaggagctgcaaagaagttCccattgggcatctgccctgg	13	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:56215887C>T	uc001shx.1	-	7	2187	c.1983G>A	c.(1981-1983)GGG>GGA	p.G661G	DNAJC14_uc001shu.1_Silent_p.G661G|DNAJC14_uc009zob.1_Silent_p.G661G	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	661					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						CAAAGAAGTTCCCATTGGGCA	0.562													T	56215887	C	T	56215887	2	4	104	1	0	0	0	0	0	0	0	1	4633	842	30	4		4	DNAJC14	12	56215887	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	329154	56215887	77636008	4520	71134											
MMP19	4327	broad.mit.edu	37	chr12	56231717	56231717	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagggcagacactcggaAcaaggggcccggtcctgaat	13	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:56231717A>G	uc001sib.2	-	7	1091	c.970T>C	c.(970-972)TTC>CTC	p.F324L	MMP19_uc001sia.2_Missense_Mutation_p.F38L|MMP19_uc001sid.2_RNA|MMP19_uc010spw.1_Missense_Mutation_p.V277A	NM_002429	NP_002420	Q99542	MMP19_HUMAN	matrix metalloproteinase 19 isoform rasi-1	324	Hemopexin-like 1.				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)	1						GACACTCGGAACAAGGGGCCC	0.552													G	56231717	A	G	56231717	3	3	104	1	0	0	0	0	1	0	0	0	9657	43	2	3	568	3	MMP19	12	56231717	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	15830	56231717	77620178	4521	71135											
SILV	6490	broad.mit.edu	37	chr12	56349139	56349139	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacctgcccaaggcctgctTcttgacctgtgagaagaatc	10	12	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:56349139T>G	uc001sip.2	-	10	1800	c.1769A>C	c.(1768-1770)GAA>GCA	p.E590A	SILV_uc001siq.2_Missense_Mutation_p.E597A|SILV_uc010spx.1_Missense_Mutation_p.E504A|SILV_uc001sir.2_Missense_Mutation_p.E590A	NM_006928	NP_008859	P40967	PMEL_HUMAN	silver homolog	590	Lumenal (Potential).				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding				0						AAGGCCTGCTTCTTGACCTGT	0.532													G	56349139	T	G	56349139	3	3	104	1	0	0	0	0	1	0	0	0	14322	1783	62	5	224	5	SILV	12	56349139	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	117422	56349139	77502756	4522	71136											
SILV	6490	broad.mit.edu	37	chr12	56349922	56349922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgacggaaaaggaaccatatCgatacagaacacaatccagg	9	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:56349922C>T	uc001sip.2	-	7	1467	c.1436G>A	c.(1435-1437)CGA>CAA	p.R479Q	SILV_uc001siq.2_Missense_Mutation_p.R479Q|SILV_uc010spx.1_Missense_Mutation_p.R393Q|SILV_uc001sir.2_Missense_Mutation_p.R479Q	NM_006928	NP_008859	P40967	PMEL_HUMAN	silver homolog	479	Lumenal (Potential).				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding				0						GGAACCATATCGATACAGAAC	0.557											OREG0021914	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	56349922	C	T	56349922	3	4	104	1	0	0	0	0	1	0	0	0	14322	884	31	1	569	1	SILV	12	56349922	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	783	56349922	77501973	4523	71137											
ESYT1	23344	broad.mit.edu	37	chr12	56526515	56526515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccccaggtgatggtacacGaggtcccagggcaggagatt	14	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:56526515G>A	uc001sjq.2	+	10	1224	c.1174G>A	c.(1174-1176)GAG>AAG	p.E392K	ESYT1_uc001sjr.2_Missense_Mutation_p.E392K	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	392	C2 1.					integral to membrane				ovary(4)|skin(1)	5						GATGGTACACGAGGTCCCAGG	0.527													A	56526515	G	A	56526515	3	1	104	1	0	0	0	0	1	0	0	0	5264	1059	37	1	1212	1	ESYT1	12	56526515	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	176593	56526515	77325380	4524	71138											
ANKRD52	283373	broad.mit.edu	37	chr12	56648032	56648032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagcaggcgatgtgcaaaGctgtgtttccaaaagcattg	13	7	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:56648032G>A	uc001skm.3	-	8	815	c.725C>T	c.(724-726)GCT>GTT	p.A242V	ANKRD52_uc001skn.1_RNA	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	242	ANK 8.						protein binding			ovary(2)	2						GATGTGCAAAGCTGTGTTTCC	0.507													A	56648032	G	A	56648032	3	1	104	1	0	0	0	0	1	0	0	0	678	971	34	2	2589	2	ANKRD52	12	56648032	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	121517	56648032	77203863	4525	71139											
CS	1431	broad.mit.edu	37	chr12	56693974	56693974	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagccgggcggccgcagtAagtaaagccatggcgggcga	17	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:56693974A>C	uc001sks.1	-	1	202	c.12T>G	c.(10-12)CTT>CTG	p.L4L	CS_uc010sql.1_5'UTR|CS_uc001skr.1_5'UTR|CS_uc001skt.1_5'UTR	NM_004077	NP_004068	O75390	CISY_HUMAN	citrate synthase precursor	4					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity				0		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CGGCCGCAGTAAGTAAAGCCA	0.706													C	56693974	A	C	56693974	2	2	104	1	0	0	0	0	0	0	0	1	3924	349	13	5		5	CS	12	56693974	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	45942	56693974	77157921	4526	71140											
STAT2	6773	broad.mit.edu	37	chr12	56740662	56740662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgacgattcactgaagCgcagtagaaaggtgccagac	11	10	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:56740662C>T	uc001slc.2	-	20	1880	c.1802G>A	c.(1801-1803)CGC>CAC	p.R601H	STAT2_uc001slb.2_Missense_Mutation_p.R143H|STAT2_uc001sld.2_Missense_Mutation_p.R597H	NM_005419	NP_005410	P52630	STAT2_HUMAN	signal transducer and activator of transcription	601	SH2.				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						TTCACTGAAGCGCAGTAGAAA	0.587													T	56740662	C	T	56740662	3	4	104	1	0	0	0	0	1	0	0	0	15264	768	27	1	773	1	STAT2	12	56740662	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	46688	56740662	77111233	4527	71141											
APOF	319	broad.mit.edu	37	chr12	56755504	56755504	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgtcgggagggagcgcccGacccttcctgtgctttgctg	14	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:56755504G>A	uc001sle.1	-	2	540	c.486C>T	c.(484-486)GTC>GTT	p.V162V		NM_001638	NP_001629	Q13790	APOF_HUMAN	apolipoprotein F precursor	162					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding				0						GGGAGCGCCCGACCCTTCCTG	0.587													A	56755504	G	A	56755504	2	1	104	1	0	0	0	0	0	0	0	1	803	1045	37	1		1	APOF	12	56755504	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	14842	56755504	77096391	4528	71142											
GLS2	27165	broad.mit.edu	37	chr12	56872893	56872895	+	In_Frame_Del	DEL	CTC	CTC	-													cgatccacatggcccgtgaaCtcctcaaaatcaggaatgac							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:56872892_56872894ACTC>A	uc001slj.3	-	3	755_757	c.476_478GAGT>T	c.(475-480)gagttc>gTtc	p.159_160EF>V	GLS2_uc021qzb.1_In_Frame_Del_p.122_123EF>V|GLS2_uc021qzc.1_Non-coding_Transcript|GLS2_uc021qzd.1_Intron|GLS2_uc009zos.3_Non-coding_Transcript|GLS2_uc001slk.3_Intron|GLS2_uc009zot.3_Intron	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	Homo sapiens glutaminase 2 (liver, mitochondrial) (GLS2), nuclear gene encoding mitochondrial protein, mRNA.	159					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGGCCCGTGAACTCCTCAAAATC	0.537													-	56872895	CTC	-	56872893	7	5	104	1	0	1	0	1	0	0	0	0	6464	564	20	0	1391	0	GLS2	12	56872893	In_Frame_Del	DEL	CTC	TCGA-BR-8680-01A-11D-2394-08	117389	56872893	76979002	4529	71143											
BAZ2A	11176	broad.mit.edu	37	chr12	57000092	57000092	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctcttgtttccgcttatttCtggcctgtaaaccataaggg	8	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:57000092C>A	uc001slq.1	-	12	2398	c.2204G>T	c.(2203-2205)AGA>ATA	p.R735I	BAZ2A_uc001slp.1_Missense_Mutation_p.R733I|BAZ2A_uc009zov.1_5'Flank|BAZ2A_uc009zow.1_Missense_Mutation_p.R703I	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	735	Lys-rich.|Potential.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding				0						CCGCTTATTTCTGGCCTGTAA	0.438													A	57000092	C	A	57000092	3	1	104	1	0	0	0	0	1	0	0	0	1331	913	32	5	3585	5	BAZ2A	12	57000092	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	127199	57000092	76851803	4530	71144											
HSD17B6	8630	broad.mit.edu	37	chr12	57167906	57167906	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttaccaagatggagagcatCgctgcagctactcagtgggt	13	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:57167906C>T	uc001smg.1	+	2	380	c.270C>T	c.(268-270)ATC>ATT	p.I90I		NM_003725	NP_003716	O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	90					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			upper_aerodigestive_tract(1)|pancreas(1)	2					Succinic acid(DB00139)	TGGAGAGCATCGCTGCAGCTA	0.512													T	57167906	C	T	57167906	2	4	104	1	0	0	0	0	0	0	0	1	7387	874	31	1		1	HSD17B6	12	57167906	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	167814	57167906	76683989	4531	71145											
HSD17B6	8630	broad.mit.edu	37	chr12	57180939	57180939	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgaaggaagggctgttgaAttgtagcacaaacctgaacc	11	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:57180939A>C	uc001smg.1	+	5	877	c.767A>C	c.(766-768)AAT>ACT	p.N256T		NM_003725	NP_003716	O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	256					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			upper_aerodigestive_tract(1)|pancreas(1)	2					Succinic acid(DB00139)	GGGCTGTTGAATTGTAGCACA	0.403													C	57180939	A	C	57180939	3	2	104	1	0	0	0	0	1	0	0	0	7387	101	4	5	781	5	HSD17B6	12	57180939	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	13033	57180939	76670956	4532	71146											
MYO1A	4640	broad.mit.edu	37	chr12	57441820	57441820	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tagtcttgatatttggcaatGaactctggcccatagatggg	11	7	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:57441820G>T	uc001smw.3	-	3	426	c.183C>A	c.(181-183)TTC>TTA	p.F61L	MYO1A_uc010sqz.1_5'Flank|MYO1A_uc009zpd.2_Missense_Mutation_p.F61L	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	myosin IA	61	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|urinary_tract(1)	7						ATTTGGCAATGAACTCTGGCC	0.498													T	57441820	G	T	57441820	3	4	104	1	0	0	0	0	1	0	0	0	10068	1281	45	5	3052	5	MYO1A	12	57441820	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	260881	57441820	76410075	4533	71147											
PIP4K2C	79837	broad.mit.edu	37	chr12	57993209	57993209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagtgtcccgggaagccagCgataaggaaaaggtgatagt	14	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:57993209C>T	uc001sou.2	+	6	818	c.687C>T	c.(685-687)AGC>AGT	p.S229S	PIP4K2C_uc001sot.2_Silent_p.S229S|PIP4K2C_uc010srs.1_Silent_p.S211S|PIP4K2C_uc010srt.1_Silent_p.S181S	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	229	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			central_nervous_system(2)|lung(1)	3	Melanoma(17;0.122)					GGGAAGCCAGCGATAAGGAAA	0.502													T	57993209	C	T	57993209	2	4	104	1	0	0	0	0	0	0	0	1	11938	767	27	1		1	PIP4K2C	12	57993209	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	551389	57993209	75858686	4534	71148											
GEFT	115557	broad.mit.edu	37	chr12	58005727	58005727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcctgtccccgtgtgatccGaaaagtgctggcaaaatgcg	12	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:58005727G>A	uc001spb.2	+	1	510	c.50G>A	c.(49-51)CGA>CAA	p.R17Q	GEFT_uc009zpy.2_Intron|GEFT_uc001soz.1_Intron|GEFT_uc001spa.2_5'UTR|GEFT_uc001spd.2_5'Flank	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	RhoA/RAC/CDC42 exchange factor isoform 1	17					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity				0	Melanoma(17;0.122)					CGTGTGATCCGAAAAGTGCTG	0.537													A	58005727	G	A	58005727	3	1	104	1	0	0	0	0	1	0	0	0	6328	1058	37	1	274	1	GEFT	12	58005727	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	12518	58005727	75846168	4535	71149											
GEFT	115557	broad.mit.edu	37	chr12	58010244	58010244	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgtcacccaaaggggAggtggccagagccctcttgc	14	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:58010244A>G	uc001spb.2	+	14	2058	c.1598A>G	c.(1597-1599)GAG>GGG	p.E533G	GEFT_uc009zpy.2_Missense_Mutation_p.E572G|GEFT_uc001spa.2_Missense_Mutation_p.E427G|uc001spc.2_Intron|GEFT_uc001spd.2_Missense_Mutation_p.E238G	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	RhoA/RAC/CDC42 exchange factor isoform 1	533					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity				0	Melanoma(17;0.122)					CCCAAAGGGGAGGTGGCCAGA	0.562													G	58010244	A	G	58010244	3	3	104	1	0	0	0	0	1	0	0	0	6328	304	11	3	1874	3	GEFT	12	58010244	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	4517	58010244	75841651	4536	71150											
SLC26A10	65012	broad.mit.edu	37	chr12	58015518	58015518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcctcggagcagtccggccGaactgaccatctccgcgctc	11	17	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:58015518G>A	uc001spe.2	+	4	912	c.601G>A	c.(601-603)GAA>AAA	p.E201K	SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_5'Flank	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	201						integral to membrane	antiporter activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(17;0.122)					CAGTCCGGCCGAACTGACCAT	0.687											OREG0021948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	58015518	G	A	58015518	3	1	104	1	0	0	0	0	1	0	0	0	14515	1059	37	1	615	1	SLC26A10	12	58015518	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5274	58015518	75836377	4537	71151											
B4GALNT1	2583	broad.mit.edu	37	chr12	58024083	58024083	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtcacttcccctgccacGtcccaggtgcctagggaggc	11	17	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:58024083G>A	uc001spg.1	-	6	996	c.564C>T	c.(562-564)GAC>GAT	p.D188D	B4GALNT1_uc010sru.1_Silent_p.D133D|B4GALNT1_uc010srv.1_Silent_p.D188D|B4GALNT1_uc001sph.2_Silent_p.D188D|B4GALNT1_uc001spi.2_Silent_p.D188D	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	188	Lumenal (Potential).				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity				0	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CCCCTGCCACGTCCCAGGTGC	0.592													A	58024083	G	A	58024083	2	1	104	1	0	0	0	0	0	0	0	1	1266	1136	40	1		1	B4GALNT1	12	58024083	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	8565	58024083	75827812	4538	71152											
CYP27B1	1594	broad.mit.edu	37	chr12	58159172	58159172	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggcgcctcagacgccgcAcaaggtcgcagactacgttg	13	14	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:58159172A>G	uc001spz.1	-	3	649	c.497T>C	c.(496-498)GTG>GCG	p.V166A	CYP27B1_uc001sqa.1_5'UTR|CYP27B1_uc001sqb.1_Silent_p.C46C|CYP27B1_uc001sqc.1_Silent_p.C46C	NM_000785	NP_000776	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B,	166					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)	3	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	CAGACGCCGCACAAGGTCGCA	0.682											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	58159172	A	G	58159172	3	3	104	1	0	0	0	0	1	0	0	0	4159	159	6	3	1057	3	CYP27B1	12	58159172	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	135089	58159172	75692723	4539	71153											
SLC16A7	9194	broad.mit.edu	37	chr12	60169004	60169004	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgcaaactccaaatatattCgacctcgaattcagtacttc	4	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:60169004C>T	uc001sqs.2	+	5	1227	c.928C>T	c.(928-930)CGA>TGA	p.R310*	SLC16A7_uc001sqt.2_Nonsense_Mutation_p.R310*|SLC16A7_uc001squ.2_Nonsense_Mutation_p.R310*|SLC16A7_uc009zqi.2_Nonsense_Mutation_p.R211*|SLC16A7_uc010ssi.1_Nonsense_Mutation_p.R211*	NM_004731	NP_004722	O60669	MOT2_HUMAN	solute carrier family 16, member 7	310	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			ovary(1)	1				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	CAAATATATTCGACCTCGAAT	0.413													T	60169004	C	T	60169004	4	4	104	1	0	0	0	0	0	1	0	0	14413	876	31	1	938	1	SLC16A7	12	60169004	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2009832	60169004	73682891	4540	71154											
MON2	23041	broad.mit.edu	37	chr12	62902072	62902072	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttccttgcaaatagcaccaaGaatttagtttcctcctcaaa	4	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:62902072G>T	uc001sre.2	+	8	1187	c.796G>T	c.(796-798)GAA>TAA	p.E266*	MON2_uc009zqj.2_Nonsense_Mutation_p.E266*|MON2_uc010ssl.1_Nonsense_Mutation_p.E194*|MON2_uc010ssm.1_Nonsense_Mutation_p.E266*|MON2_uc010ssn.1_Nonsense_Mutation_p.E266*|MON2_uc001srf.2_Nonsense_Mutation_p.E29*|MON2_uc001srd.1_Nonsense_Mutation_p.E158*	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	266					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ATAGCACCAAGAATTTAGTTT	0.333													T	62902072	G	T	62902072	4	4	104	1	0	0	0	0	0	1	0	0	9700	943	33	5	826	5	MON2	12	62902072	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2733068	62902072	70949823	4541	71155											
PPM1H	57460	broad.mit.edu	37	chr12	63042363	63042363	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagatatccgccatcctctgTccttcagcacaccccgggca	7	17	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:63042363T>C	uc001srk.3	-	10	1600	c.1451A>G	c.(1450-1452)GAC>GGC	p.D484G		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	protein phosphatase 1H (PP2C domain containing)	484	PP2C-like.						phosphoprotein phosphatase activity			lung(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CCATCCTCTGTCCTTCAGCAC	0.502													C	63042363	T	C	63042363	3	2	104	1	0	0	0	0	1	0	0	0	12341	1667	58	3	97	3	PPM1H	12	63042363	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	140291	63042363	70809532	4542	71156											
MSRB3	253827	broad.mit.edu	37	chr12	65720710	65720710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcactcaggagaaagggaccGaaaggtaaggtgagctttaa	13	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:65720710G>A	uc001ssn.2	+	2	263	c.202G>A	c.(202-204)GAA>AAA	p.E68K	MSRB3_uc001ssm.2_Missense_Mutation_p.E61K|MSRB3_uc009zqp.2_Missense_Mutation_p.E61K	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3 isoform 1	68					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GAAAGGGACCGAAAGGTAAGG	0.448													A	65720710	G	A	65720710	3	1	104	1	0	0	0	0	1	0	0	0	9889	1059	37	1	288	1	MSRB3	12	65720710	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2678347	65720710	68131185	4543	71157											
MSRB3	253827	broad.mit.edu	37	chr12	65857005	65857005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaaagatactgcataaattCggctgccttgtcttttacac	7	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:65857005C>T	uc001ssn.2	+	6	543	c.482C>T	c.(481-483)TCG>TTG	p.S161L	MSRB3_uc001ssm.2_Missense_Mutation_p.S154L|MSRB3_uc009zqp.2_Missense_Mutation_p.S154L	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3 isoform 1	161					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		TGCATAAATTCGGCTGCCTTG	0.547													T	65857005	C	T	65857005	3	4	104	1	0	0	0	0	1	0	0	0	9889	893	31	1	584	1	MSRB3	12	65857005	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	136295	65857005	67994890	4544	71158											
HELB	92797	broad.mit.edu	37	chr12	66712497	66712497	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cattacccatctcaattcaaGataagacatttatttttgtc	3	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:66712497G>T	uc001sti.2	+	7	2108	c.2080G>T	c.(2080-2082)GAT>TAT	p.D694Y	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	694					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CTCAATTCAAGATAAGACATT	0.338													T	66712497	G	T	66712497	3	4	104	1	0	0	0	0	1	0	0	0	7045	942	33	5	2106	5	HELB	12	66712497	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	855492	66712497	67139398	4545	71159											
GRIP1	23426	broad.mit.edu	37	chr12	66742845	66742845	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctccaaattaccaccgtggCtaggctgctggaaaaaagca	9	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:66742845C>A	uc001stk.2	-	24	3426	c.3185G>T	c.(3184-3186)AGC>ATC	p.S1062I	GRIP1_uc001stj.2_Missense_Mutation_p.S829I	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	1114					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ACCACCGTGGCTAGGCTGCTG	0.413													A	66742845	C	A	66742845	3	1	104	1	0	0	0	0	1	0	0	0	6787	797	28	5	49	5	GRIP1	12	66742845	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	30348	66742845	67109050	4546	71160											
DYRK2	8445	broad.mit.edu	37	chr12	68050891	68050891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctgaattccagattggCggcagtaagcacacaatgaa	10	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:68050891C>T	uc001str.3	+	3	606	c.204C>T	c.(202-204)GGC>GGT	p.G68G	DYRK2_uc001sts.3_5'UTR	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	68					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(1)|central_nervous_system(1)	4			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		TCCAGATTGGCGGCAGTAAGC	0.468													T	68050891	C	T	68050891	2	4	104	1	0	0	0	0	0	0	0	1	4856	755	27	1		1	DYRK2	12	68050891	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1308046	68050891	65801004	4547	71161											
IL26	55801	broad.mit.edu	37	chr12	68619407	68619407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctttgatatagagagCgtcaacagcttgggacaatg	12	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:68619407C>T	uc001stx.1	-	1	165	c.130G>A	c.(130-132)GCT>ACT	p.A44T		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	interleukin 26 precursor	44					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity				0			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		ATATAGAGAGCGTCAACAGCT	0.433													T	68619407	C	T	68619407	3	4	104	1	0	0	0	0	1	0	0	0	7679	768	27	1	405	1	IL26	12	68619407	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	568516	68619407	65232488	4548	71162											
MDM1	56890	broad.mit.edu	37	chr12	68696398	68696398	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattaaaaccaaaataattAccattgtgctgaaactctgg	5	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:68696398A>G	uc001stz.2	-	12	2108	c.1972_splice	c.e12+1	p.V658_splice	MDM1_uc010stc.1_Splice_Site_p.V623_splice|MDM1_uc009zqv.1_Splice_Site_p.V378_splice	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	mouse Mdm1 nuclear protein homolog isoform 1							nucleus				ovary(3)|skin(2)	5			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CAAAATAATTACCATTGTGCT	0.368													G	68696398	A	G	68696398	5	3	104	1	0	0	0	0	0	0	1	0	9412	405	14	3	182	3	MDM1	12	68696398	Splice_Site	SNP	A	TCGA-BR-8680-01A-11D-2394-08	76991	68696398	65155497	4549	71163											
NUP107	57122	broad.mit.edu	37	chr12	69128606	69128606	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgaacacaaagaaaagaAatatgaagtaagttaaatat	6	3	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:69128606A>C	uc001suf.2	+	25	2496	c.2381A>C	c.(2380-2382)AAA>ACA	p.K794T	NUP107_uc001sug.2_Missense_Mutation_p.K553T|NUP107_uc010stj.1_Missense_Mutation_p.K765T	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	794					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AAAGAAAAGAAATATGAAGTA	0.338													C	69128606	A	C	69128606	3	2	104	1	0	0	0	0	1	0	0	0	10753	14	1	5	2479	5	NUP107	12	69128606	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	432208	69128606	64723289	4550	71164											
CNOT2	4848	broad.mit.edu	37	chr12	70723256	70723256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaatacccctcagttaaatCgcagcttatcacaaggcact	5	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:70723256C>T	uc001svv.2	+	5	871	c.292C>T	c.(292-294)CGC>TGC	p.R98C	CNOT2_uc009zro.2_Missense_Mutation_p.R98C|CNOT2_uc009zrp.2_Missense_Mutation_p.R78C|CNOT2_uc009zrq.2_Missense_Mutation_p.R98C	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	98					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity				0	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TCAGTTAAATCGCAGCTTATC	0.463													T	70723256	C	T	70723256	3	4	104	1	0	0	0	0	1	0	0	0	3619	884	31	1	306	1	CNOT2	12	70723256	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1594650	70723256	63128639	4551	71165											
PTPRB	5787	broad.mit.edu	37	chr12	70925842	70925842	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaccatgtgaaccctgtgAagtcttaggtcgtgcactgc	12	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:70925842A>G	uc001swb.3	-	30	5853	c.5823T>C	c.(5821-5823)CTT>CTC	p.L1941L	uc001svz.2_Intron|PTPRB_uc010sto.1_Silent_p.L1851L|PTPRB_uc010stp.1_Silent_p.L1851L|PTPRB_uc001swc.3_Silent_p.L2159L|PTPRB_uc001swa.3_Silent_p.L2071L	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1941	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAACCCTGTGAAGTCTTAGGT	0.478													G	70925842	A	G	70925842	2	3	104	1	0	0	0	0	0	0	0	1	12796	233	9	3		3	PTPRB	12	70925842	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	202586	70925842	62926053	4552	71166											
PTPRB	5787	broad.mit.edu	37	chr12	70986133	70986133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgacagtaacttgataaagtCgaccggggactaactcttta	9	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:70986133C>T	uc001swb.3	-	5	1085	c.1055G>A	c.(1054-1056)CGA>CAA	p.R352Q	PTPRB_uc010sto.1_Missense_Mutation_p.R352Q|PTPRB_uc010stp.1_Missense_Mutation_p.R352Q|PTPRB_uc001swc.3_Missense_Mutation_p.R570Q|PTPRB_uc001swa.3_Missense_Mutation_p.R570Q|PTPRB_uc001swd.3_Missense_Mutation_p.R569Q|PTPRB_uc009zrr.1_Missense_Mutation_p.R449Q|PTPRB_uc001swe.2_Missense_Mutation_p.R570Q	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	352	Fibronectin type-III 4.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTGATAAAGTCGACCGGGGAC	0.458													T	70986133	C	T	70986133	3	4	104	1	0	0	0	0	1	0	0	0	12796	884	31	1	5050	1	PTPRB	12	70986133	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	60291	70986133	62865762	4553	71167											
PTPRB	5787	broad.mit.edu	37	chr12	71002899	71002899	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagagaaataatcctgaagTtatagatggttcctgcttgt	9	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:71002899T>G	uc001swb.3	-	2	305	c.275A>C	c.(274-276)AAC>ACC	p.N92T	PTPRB_uc010sto.1_Missense_Mutation_p.N92T|PTPRB_uc010stp.1_Missense_Mutation_p.N92T|PTPRB_uc001swc.3_Missense_Mutation_p.N310T|PTPRB_uc001swa.3_Missense_Mutation_p.N310T|PTPRB_uc001swd.3_Missense_Mutation_p.N309T|PTPRB_uc009zrr.1_Missense_Mutation_p.N189T|PTPRB_uc001swe.2_Missense_Mutation_p.N310T	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	92	Fibronectin type-III 1.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AATCCTGAAGTTATAGATGGT	0.498													G	71002899	T	G	71002899	3	3	104	1	0	0	0	0	1	0	0	0	12796	1725	60	5	5842	5	PTPRB	12	71002899	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	16766	71002899	62848996	4554	71168											
PTPRR	5801	broad.mit.edu	37	chr12	71056292	71056292	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacctttaagacaaggtttcGaatggtgtagttatcacatt	8	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:71056292G>A	uc001swi.1	-	11	2007	c.1591C>T	c.(1591-1593)CGA>TGA	p.R531*	PTPRR_uc001swf.1_RNA|PTPRR_uc001swg.1_RNA|PTPRR_uc001swh.1_Nonsense_Mutation_p.R286*|PTPRR_uc009zrs.2_Nonsense_Mutation_p.R380*|PTPRR_uc010stq.1_Nonsense_Mutation_p.R419*|PTPRR_uc010str.1_Nonsense_Mutation_p.R380*	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	531	Tyrosine-protein phosphatase.|Cytoplasmic (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ACAAGGTTTCGAATGGTGTAG	0.353													A	71056292	G	A	71056292	4	1	104	1	0	0	0	0	0	1	0	0	12810	1066	37	1	398	1	PTPRR	12	71056292	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	53393	71056292	62795603	4555	71169											
PTPRR	5801	broad.mit.edu	37	chr12	71286586	71286586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaattgacaatctggtggCgtttgcttacttgagcttcg	11	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:71286586C>T	uc001swi.1	-	2	646	c.230G>A	c.(229-231)CGC>CAC	p.R77H		NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	77	Extracellular (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AATCTGGTGGCGTTTGCTTAC	0.448													T	71286586	C	T	71286586	3	4	104	1	0	0	0	0	1	0	0	0	12810	768	27	1	1795	1	PTPRR	12	71286586	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	230294	71286586	62565309	4556	71170											
ZFC3H1	196441	broad.mit.edu	37	chr12	72029233	72029233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgcacttacctcagcagttCgtcttgcttctttaatcatg	6	11	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:72029233C>T	uc001swo.2	-	10	2587	c.2228G>A	c.(2227-2229)CGA>CAA	p.R743Q		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	743					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						CTCAGCAGTTCGTCTTGCTTC	0.333													T	72029233	C	T	72029233	3	4	104	1	0	0	0	0	1	0	0	0	17630	884	31	1	3845	1	ZFC3H1	12	72029233	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	742647	72029233	61822662	4557	71171											
TBC1D15	64786	broad.mit.edu	37	chr12	72266715	72266715	+	Missense_Mutation	SNP	G	G	A													atttctttctctaggatgccGaagtaatagtggactggaga							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:72266715G>A	uc001swu.2	+	3	211	c.202G>A	c.(202-204)GAA>AAA	p.E68K	TBC1D15_uc009zrv.2_5'UTR|TBC1D15_uc010stt.1_Missense_Mutation_p.E54K|TBC1D15_uc001swv.2_Missense_Mutation_p.E68K|TBC1D15_uc001sww.2_5'UTR	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15 isoform 1	46							protein binding|Rab GTPase activator activity				0						CTAGGATGCCGAAGTAATAGT	0.308													A	72266715	G	A	72266715	3	1	104	1	0	0	0	0	1	0	0	0	15601	1059	37	1	270	1	TBC1D15	12	72266715	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	237482	72266715	61585180	4558	71172	325	2									
TBC1D15	64786	broad.mit.edu	37	chr12	72266725	72266725	+	Missense_Mutation	SNP	T	T	C													ctaggatgccgaagtaatagTggactggagaccattggatg							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:72266725T>C	uc001swu.2	+	3	221	c.212T>C	c.(211-213)GTG>GCG	p.V71A	TBC1D15_uc009zrv.2_5'UTR|TBC1D15_uc010stt.1_Missense_Mutation_p.V57A|TBC1D15_uc001swv.2_Missense_Mutation_p.V71A|TBC1D15_uc001sww.2_5'UTR	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15 isoform 1	49							protein binding|Rab GTPase activator activity				0						GAAGTAATAGTGGACTGGAGA	0.299													C	72266725	T	C	72266725	3	2	104	1	0	0	0	0	1	0	0	0	15601	1696	59	3	280	3	TBC1D15	12	72266725	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	10	72266725	61585170	4559	71173	325	2									
TPH2	121278	broad.mit.edu	37	chr12	72372774	72372774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggtggctggatacctgaGcccacgagactttctggcag	14	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:72372774G>A	uc009zrw.1	+	7	989	c.848G>A	c.(847-849)AGC>AAC	p.S283N	TPH2_uc001swy.2_Missense_Mutation_p.S193N	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	283					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			ovary(2)|central_nervous_system(1)|skin(1)	4					L-Tryptophan(DB00150)	GGATACCTGAGCCCACGAGAC	0.532													A	72372774	G	A	72372774	3	1	104	1	0	0	0	0	1	0	0	0	16399	971	34	2	874	2	TPH2	12	72372774	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	106049	72372774	61479121	4560	71174											
GLIPR1L1	256710	broad.mit.edu	37	chr12	75737646	75737646	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagacatgccattacggcTtggtataatgaaacccaatt	7	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:75737646T>G	uc001sxo.2	+	2	394	c.348T>G	c.(346-348)GCT>GCG	p.A116A	CAPS2_uc001sxm.3_Intron|CAPS2_uc009zsa.2_Intron|GLIPR1L1_uc001sxn.2_Silent_p.A116A	NM_152779	NP_689992	Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	116						extracellular region					0						CCATTACGGCTTGGTATAATG	0.338													G	75737646	T	G	75737646	2	3	104	1	0	0	0	0	0	0	0	1	6442	1596	56	5		5	GLIPR1L1	12	75737646	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	3364872	75737646	58114249	4561	71175											
KRR1	11103	broad.mit.edu	37	chr12	75897739	75897739	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attctttcttaacagtttttTtctttggttccttgcgttta	5	7	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:75897739T>C	uc001sxt.2	-	7	817	c.776A>G	c.(775-777)AAA>AGA	p.K259R	KRR1_uc009zsc.2_Intron	NM_007043	NP_008974	Q13601	KRR1_HUMAN	HIV-1 rev binding protein 2	259	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			ovary(1)|pancreas(1)	2						AACAGTTTTTTTCTTTGGTTC	0.353													C	75897739	T	C	75897739	3	2	104	1	0	0	0	0	1	0	0	0	8446	1841	64	3	385	3	KRR1	12	75897739	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	160093	75897739	57954156	4562	71176											
KRR1	11103	broad.mit.edu	37	chr12	75902105	75902105	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caacactctttcaagtaagcTtccctgtattttgggaacaa	6	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:75902105T>G	uc001sxt.2	-	2	248	c.207A>C	c.(205-207)GAA>GAC	p.E69D	KRR1_uc009zsc.2_Missense_Mutation_p.E69D|KRR1_uc010stx.1_Missense_Mutation_p.E69D	NM_007043	NP_008974	Q13601	KRR1_HUMAN	HIV-1 rev binding protein 2	69				E -> G (in Ref. 1; AAH16778).	rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			ovary(1)|pancreas(1)	2						TCAAGTAAGCTTCCCTGTATT	0.403													G	75902105	T	G	75902105	3	3	104	1	0	0	0	0	1	0	0	0	8446	1606	56	5	974	5	KRR1	12	75902105	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	4366	75902105	57949790	4563	71177											
PHLDA1	22822	broad.mit.edu	37	chr12	76424776	76424776	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaccacagtgaagtacatgTacttgcccttgcgctccaca	7	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:76424776T>C	uc001sxu.2	-	1	781	c.746A>G	c.(745-747)TAC>TGC	p.Y249C		NM_007350	NP_031376	Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A,	249	PH.				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding				0		Colorectal(145;0.09)				GAAGTACATGTACTTGCCCTT	0.602													C	76424776	T	C	76424776	3	2	104	1	0	0	0	0	1	0	0	0	11848	1638	57	3	463	3	PHLDA1	12	76424776	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	522671	76424776	57427119	4564	71178											
ZDHHC17	23390	broad.mit.edu	37	chr12	77235880	77235880	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaagcaacagaagagcaaaaGaaaaaggtagcaaaatacca	8	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:77235880G>T	uc001syk.1	+	11	1423	c.1260G>T	c.(1258-1260)AAG>AAT	p.K420N		NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	huntingtin interacting protein 14	420	Cytoplasmic (Potential).				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding				0						AAGAGCAAAAGAAAAAGGTAG	0.348													T	77235880	G	T	77235880	3	4	104	1	0	0	0	0	1	0	0	0	17604	933	33	5	1302	5	ZDHHC17	12	77235880	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	811104	77235880	56616015	4565	71179											
ZDHHC17	23390	broad.mit.edu	37	chr12	77244667	77244667	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttatagacttctttgaatttCgatgctgtggcctctttcgt	8	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:77244667C>T	uc001syk.1	+	17	1964	c.1801C>T	c.(1801-1803)CGA>TGA	p.R601*		NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	huntingtin interacting protein 14	601	Cytoplasmic (Potential).				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding				0						CTTTGAATTTCGATGCTGTGG	0.403													T	77244667	C	T	77244667	4	4	104	1	0	0	0	0	0	1	0	0	17604	876	31	1	1867	1	ZDHHC17	12	77244667	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	8787	77244667	56607228	4566	71180											
E2F7	144455	broad.mit.edu	37	chr12	77439830	77439830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggactcacaagagggacagtCgggttcagagaaatccagta	13	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:77439830C>T	uc001sym.3	-	5	1053	c.817G>A	c.(817-819)GAC>AAC	p.D273N	E2F7_uc001syn.2_Missense_Mutation_p.D273N	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	273					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						GAGGGACAGTCGGGTTCAGAG	0.438													T	77439830	C	T	77439830	3	4	104	1	0	0	0	0	1	0	0	0	4872	884	31	1	1954	1	E2F7	12	77439830	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	195163	77439830	56412065	4567	71181											
NAV3	89795	broad.mit.edu	37	chr12	78388626	78388626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctaatcacagtggaattGcaaccagtcaaaaaaagcct	7	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:78388626G>A	uc001syp.2	+	6	888	c.715G>A	c.(715-717)GCA>ACA	p.A239T	NAV3_uc001syo.2_Missense_Mutation_p.A239T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	239						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CAGTGGAATTGCAACCAGTCA	0.343										HNSCC(70;0.22)			A	78388626	G	A	78388626	3	1	104	1	0	0	0	0	1	0	0	0	10185	1319	46	2	737	2	NAV3	12	78388626	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	948796	78388626	55463269	4568	71182											
NAV3	89795	broad.mit.edu	37	chr12	78513721	78513721	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atattgcctcacccacatttCgaaggtaaggatgtataaaa	7	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:78513721C>T	uc001syp.2	+	15	3918	c.3745C>T	c.(3745-3747)CGA>TGA	p.R1249*	NAV3_uc001syo.2_Nonsense_Mutation_p.R1249*|NAV3_uc010sub.1_Nonsense_Mutation_p.R749*|NAV3_uc009zsf.2_Nonsense_Mutation_p.R257*	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1249	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						ACCCACATTTCGAAGGTAAGG	0.353										HNSCC(70;0.22)			T	78513721	C	T	78513721	4	4	104	1	0	0	0	0	0	1	0	0	10185	876	31	1	3803	1	NAV3	12	78513721	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	125095	78513721	55338174	4569	71183											
NAV3	89795	broad.mit.edu	37	chr12	78598740	78598740	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaacgcacaccatgggAagatccttcaaagtgggtgc	13	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:78598740A>G	uc001syp.2	+	39	7033	c.6860A>G	c.(6859-6861)GAA>GGA	p.E2287G	NAV3_uc001syo.2_Missense_Mutation_p.E2265G|NAV3_uc010sub.1_Missense_Mutation_p.E1744G|NAV3_uc009zsf.2_Missense_Mutation_p.E1096G	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	2287						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						ACACCATGGGAAGATCCTTCA	0.463										HNSCC(70;0.22)			G	78598740	A	G	78598740	3	3	104	1	0	0	0	0	1	0	0	0	10185	246	9	3	6944	3	NAV3	12	78598740	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	85019	78598740	55253155	4570	71184											
LIN7A	8825	broad.mit.edu	37	chr12	81239585	81239585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacccctccaggaattatgCgagagatataaatgggggaa	11	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:81239585C>T	uc001szj.1	-	4	600	c.407G>A	c.(406-408)CGC>CAC	p.R136H	LIN7A_uc001szk.1_RNA	NM_004664	NP_004655	O14910	LIN7A_HUMAN	lin-7 homolog A	136	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			ovary(1)|skin(1)	2						AGGAATTATGCGAGAGATATA	0.468													T	81239585	C	T	81239585	3	4	104	1	0	0	0	0	1	0	0	0	8810	768	27	1	302	1	LIN7A	12	81239585	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2640845	81239585	52612310	4571	71185											
C12orf26	84190	broad.mit.edu	37	chr12	82792980	82792980	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgttttgaaaattccttttCtcttataaaccttttgccta	4	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:82792980C>A	uc001szq.2	+	4	959	c.938C>A	c.(937-939)TCT>TAT	p.S313Y		NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	hypothetical protein LOC84190	313											0						AATTCCTTTTCTCTTATAAAC	0.343													A	82792980	C	A	82792980	3	1	104	1	0	0	0	0	1	0	0	0	1679	913	32	5	952	5	C12orf26	12	82792980	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1553395	82792980	51058915	4572	71186											
SLC6A15	55117	broad.mit.edu	37	chr12	85264417	85264417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtcatcgcttctgtaaaGgcaataaaagctaagccggt	10	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:85264417G>A	uc001szv.2	-	9	1828	c.1335C>T	c.(1333-1335)GCC>GCT	p.A445A	SLC6A15_uc010sul.1_Silent_p.A338A|SLC6A15_uc001szw.1_Silent_p.A153A	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	445	Extracellular (Potential).				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3						CTTCTGTAAAGGCAATAAAAG	0.413													A	85264417	G	A	85264417	2	1	104	1	0	0	0	0	0	0	0	1	14678	987	35	4		4	SLC6A15	12	85264417	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2471437	85264417	48587478	4573	71187											
TSPAN19	144448	broad.mit.edu	37	chr12	85411330	85411330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcctgaattttctttgtTcttattctttatccagtctg	5	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:85411330T>C	uc009zsj.2	-	7	600	c.499A>G	c.(499-501)AAC>GAC	p.N167D		NM_001100917	NP_001094387	P0C672	TSN19_HUMAN	tetraspanin 19	167						integral to membrane				ovary(1)	1						TTTTCTTTGTTCTTATTCTTT	0.338													C	85411330	T	C	85411330	3	2	104	1	0	0	0	0	1	0	0	0	16640	1783	62	3	259	3	TSPAN19	12	85411330	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	146913	85411330	48440565	4574	71188											
LRRIQ1	84125	broad.mit.edu	37	chr12	85450184	85450185	+	Frame_Shift_Ins	INS	-	-	A													tctgatgcacaaaaagaagaINSaaaaatcatgaaacatgtca							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:85450183_85450184G>GA	uc001tac.3	+	7	1723_1724	c.1612_1613G>GA	c.(1612-1614)gaafs	p.E538fs	LRRIQ1_uc021rbo.1_Frame_Shift_Ins_p.E416fs|LRRIQ1_uc001taa.1_Frame_Shift_Ins_p.E513fs	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	538										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACAAAAAGAAGAAAAAATCATG	0.317													A	85450185	-	A	85450184	7	5	104	1	0	1	1	0	0	0	0	0	9029	246	9	0	1639	0	LRRIQ1	12	85450184	Frame_Shift_Ins	INS	-	TCGA-BR-8680-01A-11D-2394-08	38854	85450184	48401711	4575	71189											
LRRIQ1	84125	broad.mit.edu	37	chr12	85492191	85492191	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggaccacaatcagttaatTaatacaaaaggtctttgtga	7	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:85492191T>G	uc001tac.2	+	12	3057	c.2946T>G	c.(2944-2946)ATT>ATG	p.I982M	LRRIQ1_uc001tab.1_Missense_Mutation_p.I982M	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	982	LRR 5.									ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		ATCAGTTAATTAATACAAAAG	0.348													G	85492191	T	G	85492191	3	3	104	1	0	0	0	0	1	0	0	0	9029	1742	61	5	2988	5	LRRIQ1	12	85492191	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	42007	85492191	48359704	4576	71190											
NTS	4922	broad.mit.edu	37	chr12	86276065	86276065	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaggaagaagtcataaagaGaaaaattccttatattctga	7	4	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:86276065G>T	uc001tag.2	+	4	532	c.425G>T	c.(424-426)AGA>ATA	p.R142I		NM_006183	NP_006174	P30990	NEUT_HUMAN	neurotensin/neuromedin N preproprotein	142					regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity				0						GTCATAAAGAGAAAAATTCCT	0.323													T	86276065	G	T	86276065	3	4	104	1	0	0	0	0	1	0	0	0	10709	942	33	5	439	5	NTS	12	86276065	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	783874	86276065	47575830	4577	71191											
MGAT4C	25834	broad.mit.edu	37	chr12	86373668	86373668	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaaggcatttcttgataaAacattaataaaaaatgggcc	6	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:86373668A>C	uc001tai.3	-	8	2086	c.836T>G	c.(835-837)TTT>TGT	p.F279C	MGAT4C_uc001tal.3_Missense_Mutation_p.F279C|MGAT4C_uc001taj.3_Missense_Mutation_p.F279C|MGAT4C_uc001tak.3_Missense_Mutation_p.F279C|MGAT4C_uc010sum.1_Missense_Mutation_p.F303C|MGAT4C_uc001tah.3_Missense_Mutation_p.F279C	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	279	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(3)	3						TTCTTGATAAAACATTAATAA	0.388													C	86373668	A	C	86373668	3	2	104	1	0	0	0	0	1	0	0	0	9547	14	1	5	604	5	MGAT4C	12	86373668	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	97603	86373668	47478227	4578	71192											
MGAT4C	25834	broad.mit.edu	37	chr12	86383216	86383216	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgtacaagttcataaaaaGgagaaaaatgacaagaactc	7	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:86383216G>T	uc001tai.3	-	6	1359	c.109C>A	c.(109-111)CTT>ATT	p.L37I	MGAT4C_uc001tal.3_Missense_Mutation_p.L37I|MGAT4C_uc001taj.3_Missense_Mutation_p.L37I|MGAT4C_uc001tak.3_Missense_Mutation_p.L37I|MGAT4C_uc010sum.1_Missense_Mutation_p.L61I|MGAT4C_uc001tah.3_Missense_Mutation_p.L37I	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	37	Helical; Signal-anchor for type II membrane protein; (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(3)	3						TTCATAAAAAGGAGAAAAATG	0.313													T	86383216	G	T	86383216	3	4	104	1	0	0	0	0	1	0	0	0	9547	1000	35	5	1339	5	MGAT4C	12	86383216	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	9548	86383216	47468679	4579	71193											
C12orf50	160419	broad.mit.edu	37	chr12	88420349	88420349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcttcacacaaccaagagGctgagtttcccagaagcatg	9	11	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:88420349G>A	uc001tam.1	-	3	217	c.49C>T	c.(49-51)CCT>TCT	p.P17S	C12orf50_uc001tan.2_Missense_Mutation_p.P71S	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	17										skin(2)|ovary(1)	3						CAACCAAGAGGCTGAGTTTCC	0.368													A	88420349	G	A	88420349	3	1	104	1	0	0	0	0	1	0	0	0	1695	1203	42	2	1239	2	C12orf50	12	88420349	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2037133	88420349	45431546	4580	71194											
CEP290	80184	broad.mit.edu	37	chr12	88482952	88482952	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgcattatcttaagtttgtCattttgtagttgaatcattg	7	4	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:88482952C>A	uc001tar.2	-	31	4230	c.3886G>T	c.(3886-3888)GAC>TAC	p.D1296Y	CEP290_uc001taq.2_Missense_Mutation_p.D356Y	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1296	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						TTAAGTTTGTCATTTTGTAGT	0.358													A	88482952	C	A	88482952	3	1	104	1	0	0	0	0	1	0	0	0	3253	826	29	5	3649	5	CEP290	12	88482952	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	62603	88482952	45368943	4581	71195											
DUSP6	1848	broad.mit.edu	37	chr12	89745792	89745792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccatttccgacgcgaaggGcacgggtctgagcgtatcta	13	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:89745792G>A	uc001tay.2	-	1	505	c.25C>T	c.(25-27)CCC>TCC	p.P9S	DUSP6_uc001taz.2_Missense_Mutation_p.P9S	NM_001946	NP_001937	Q16828	DUS6_HUMAN	dual specificity phosphatase 6 isoform a	9					dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0						GACGCGAAGGGCACGGGTCTG	0.687													A	89745792	G	A	89745792	3	1	104	1	0	0	0	0	1	0	0	0	4829	1203	42	2	1132	2	DUSP6	12	89745792	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1262840	89745792	44106103	4582	71196											
POC1B	282809	broad.mit.edu	37	chr12	89864189	89864189	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccttctaagaggtccagaatCttaagggtaccatctgaaga	9	9	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:89864189C>T	uc001tbc.2	-	7	864	c.759G>A	c.(757-759)AAG>AAA	p.K253K	POC1B_uc001tba.2_Silent_p.K211K|POC1B_uc001tbb.2_Silent_p.K123K|POC1B_uc010sun.1_RNA|POC1B_uc009zsp.2_RNA|POC1B_uc009zsq.2_Intron	NM_172240	NP_758440	Q8TC44	POC1B_HUMAN	WD repeat domain 51B	253	WD 6.				cell projection organization	centriole|microtubule basal body				ovary(1)	1						GGTCCAGAATCTTAAGGGTAC	0.348													T	89864189	C	T	89864189	2	4	104	1	0	0	0	0	0	0	0	1	12176	912	32	4		4	POC1B	12	89864189	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	118397	89864189	43987706	4583	71197											
ATP2B1	490	broad.mit.edu	37	chr12	90004246	90004246	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatgatcttgcaagtactcGaagttttggccaaatcttgt	9	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:90004246G>A	uc001tbh.2	-	13	2468	c.2287C>T	c.(2287-2289)CGA>TGA	p.R763*	ATP2B1_uc001tbg.2_Nonsense_Mutation_p.R763*|ATP2B1_uc001tbf.2_Nonsense_Mutation_p.R433*	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	763	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						GCAAGTACTCGAAGTTTTGGC	0.323													A	90004246	G	A	90004246	4	1	104	1	0	0	0	0	0	1	0	0	1139	1066	37	1	1565	1	ATP2B1	12	90004246	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	140057	90004246	43847649	4584	71198											
LUM	4060	broad.mit.edu	37	chr12	91502039	91502039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tattccactatcagccagttCgttgtgagataaacgcagat	8	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:91502039C>T	uc001tbm.2	-	2	1107	c.718G>A	c.(718-720)GAA>AAA	p.E240K	LUM_uc001tbn.2_RNA	NM_002345	NP_002336	P51884	LUM_HUMAN	lumican precursor	240	LRR 8.				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)	2						TCAGCCAGTTCGTTGTGAGAT	0.388													T	91502039	C	T	91502039	3	4	104	1	0	0	0	0	1	0	0	0	9085	893	31	1	306	1	LUM	12	91502039	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1497793	91502039	42349856	4585	71199											
PLEKHG7	440107	broad.mit.edu	37	chr12	93162759	93162759	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtaatatctttttctagTctttgggctgagaaatgctt	8	5	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:93162759T>G	uc001tcj.2	+	11	1165	c.935T>G	c.(934-936)GTC>GGC	p.V312G		NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G	312	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1						CTTTTTCTAGTCTTTGGGCTG	0.328													G	93162759	T	G	93162759	3	3	104	1	0	0	0	0	1	0	0	0	12075	1681	58	5	973	5	PLEKHG7	12	93162759	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1660720	93162759	40689136	4586	71200											
EEA1	8411	broad.mit.edu	37	chr12	93170682	93170682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttttgtacttcattgtcttCggcccactttctattcaacg	6	11	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:93170682C>T	uc001tck.2	-	28	4316	c.4051G>A	c.(4051-4053)GAA>AAA	p.E1351K		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	1351					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						TCATTGTCTTCGGCCCACTTT	0.323													T	93170682	C	T	93170682	3	4	104	1	0	0	0	0	1	0	0	0	4921	893	31	1	192	1	EEA1	12	93170682	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7923	93170682	40681213	4587	71201											
EEA1	8411	broad.mit.edu	37	chr12	93181715	93181715	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gattgaagctgtttgaaagtTtcctgacttttttcatagtt	8	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:93181715T>G	uc001tck.2	-	22	3343	c.3078A>C	c.(3076-3078)GAA>GAC	p.E1026D		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	1026	Gln/Glu/Lys-rich.|Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						GTTTGAAAGTTTCCTGACTTT	0.378													G	93181715	T	G	93181715	3	3	104	1	0	0	0	0	1	0	0	0	4921	1838	64	5	1189	5	EEA1	12	93181715	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	11033	93181715	40670180	4588	71202											
PLXNC1	10154	broad.mit.edu	37	chr12	94641876	94641876	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacacagaactggaagtgaaAattcaagtatgtttcttttc	8	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:94641876A>C	uc001tdc.2	+	13	2835	c.2586A>C	c.(2584-2586)AAA>AAC	p.K862N		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	862	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						TGGAAGTGAAAATTCAAGTAT	0.488													C	94641876	A	C	94641876	3	2	104	1	0	0	0	0	1	0	0	0	12126	11	1	5	2636	5	PLXNC1	12	94641876	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1460161	94641876	39210019	4589	71203											
PLXNC1	10154	broad.mit.edu	37	chr12	94649056	94649056	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctacaaacattttgctctgaGaactttcttccctgaggtaa	6	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:94649056G>T	uc001tdc.2	+	17	3320	c.3071G>T	c.(3070-3072)AGA>ATA	p.R1024I	PLXNC1_uc010sut.1_Missense_Mutation_p.R71I	NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	1024	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						TTTGCTCTGAGAACTTTCTTC	0.398													T	94649056	G	T	94649056	3	4	104	1	0	0	0	0	1	0	0	0	12126	942	33	5	3137	5	PLXNC1	12	94649056	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	7180	94649056	39202839	4590	71204											
PLXNC1	10154	broad.mit.edu	37	chr12	94673390	94673390	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attcttaagcaaaaatggctCtccttatggacttcagctta	6	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:94673390C>T	uc001tdc.2	+	22	3989	c.3740C>T	c.(3739-3741)TCT>TTT	p.S1247F	PLXNC1_uc010sut.1_Missense_Mutation_p.S294F|PLXNC1_uc009zsv.2_5'UTR	NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	1247	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						AAAAATGGCTCTCCTTATGGA	0.413													T	94673390	C	T	94673390	3	4	104	1	0	0	0	0	1	0	0	0	12126	913	32	4	3826	4	PLXNC1	12	94673390	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	24334	94673390	39178505	4591	71205											
FGD6	55785	broad.mit.edu	37	chr12	95478317	95478317	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctttgaatacataaaataAcatgtttttgtgcagtaact	6	5	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:95478317A>G	uc001tdp.3	-	20	4437	c.4213T>C	c.(4213-4215)TTA>CTA	p.L1405L	FGD6_uc009zsx.2_Silent_p.L538L	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1405	PH 2.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|breast(1)	3						ACATAAAATAACATGTTTTTG	0.343													G	95478317	A	G	95478317	2	3	104	1	0	0	0	0	0	0	0	1	5837	40	2	3		3	FGD6	12	95478317	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	804927	95478317	38373578	4592	71206											
FGD6	55785	broad.mit.edu	37	chr12	95479665	95479665	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtagccactcatagaagaaTcctctgtgtttgctgatacc	8	10	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:95479665T>C	uc001tdp.3	-	19	4222	c.3998A>G	c.(3997-3999)GAT>GGT	p.D1333G	FGD6_uc009zsx.2_Missense_Mutation_p.D466G|FGD6_uc001tdq.1_Missense_Mutation_p.D369G	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1333	PH 2.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|breast(1)	3						CATAGAAGAATCCTCTGTGTT	0.333													C	95479665	T	C	95479665	3	2	104	1	0	0	0	0	1	0	0	0	5837	1435	50	3	306	3	FGD6	12	95479665	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1348	95479665	38372230	4593	71207											
FGD6	55785	broad.mit.edu	37	chr12	95603582	95603582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggttttttggggacaattCgtagagaattttcctctttt	10	5	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:95603582C>T	uc001tdp.3	-	2	1702	c.1478G>A	c.(1477-1479)CGA>CAA	p.R493Q	FGD6_uc009zsx.2_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	493					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|breast(1)	3						GGGGACAATTCGTAGAGAATT	0.403													T	95603582	C	T	95603582	3	4	104	1	0	0	0	0	1	0	0	0	5837	884	31	1	2894	1	FGD6	12	95603582	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	123917	95603582	38248313	4594	71208											
FGD6	55785	broad.mit.edu	37	chr12	95604098	95604098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcgtaacagacgagcagttCgtgtctttctgggcttggga	15	8	2	1	rs148149725		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:95604098C>T	uc001tdp.3	-	2	1186	c.962G>A	c.(961-963)CGA>CAA	p.R321Q	FGD6_uc009zsx.2_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	321					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|breast(1)	3						ACGAGCAGTTCGTGTCTTTCT	0.423													T	95604098	C	T	95604098	3	4	104	1	0	0	0	0	1	0	0	0	5837	884	31	1	3410	1	FGD6	12	95604098	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	516	95604098	38247797	4595	71209											
METAP2	10988	broad.mit.edu	37	chr12	95906667	95906667	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcacattacatgaaaaatTttgatgttggacatgtgcca	8	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:95906667T>G	uc001tec.2	+	10	1293	c.1159T>G	c.(1159-1161)TTT>GTT	p.F387V	METAP2_uc010suv.1_Missense_Mutation_p.F364V|METAP2_uc009ztd.2_Missense_Mutation_p.F351V|METAP2_uc001ted.2_Missense_Mutation_p.F386V|METAP2_uc001tef.2_Missense_Mutation_p.F364V|METAP2_uc001tee.2_RNA	NM_006838	NP_006829	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	387					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0					L-Methionine(DB00134)	CATGAAAAATTTTGATGTTGG	0.343													G	95906667	T	G	95906667	3	3	104	1	0	0	0	0	1	0	0	0	9487	1841	64	5	1197	5	METAP2	12	95906667	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	302569	95906667	37945228	4596	71210											
CCDC38	120935	broad.mit.edu	37	chr12	96312688	96312689	+	Missense_Mutation	DNP	AG	AG	CT													ccatttcattttctttgacaAgaaagagatctctgaaaaag							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:96312688_96312689AG>CT	uc001tek.1	-	3	337_338	c.103_104CT>AG	c.(103-105)CTT>AGT	p.L35S		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	35										skin(1)	1						TTCTTTGACAAGAAAGAGATCT	0.327													CT	96312689	AG	CT	96312688	3	2	104	1	0	0	0	0	1	0	0	0	2810	72	3	5	1643	5	CCDC38	12	96312688	Missense_Mutation	DNP	AG	TCGA-BR-8680-01A-11D-2394-08	406021	96312688	37539207	4597	71211											
CDK17	5128	broad.mit.edu	37	chr12	96692758	96692758	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttatatactgttgcatatgTaccctataaaatatattttt	3	5	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:96692758T>C	uc001tep.1	-	7	1093	c.604A>G	c.(604-606)ACA>GCA	p.T202A	CDK17_uc009ztk.2_Missense_Mutation_p.T202A|CDK17_uc010svb.1_Missense_Mutation_p.T149A	NM_002595	NP_002586	Q00537	CDK17_HUMAN	PCTAIRE protein kinase 2	202	Protein kinase.|ATP (By similarity).						ATP binding|cyclin-dependent protein kinase activity			ovary(3)|lung(2)|kidney(1)|central_nervous_system(1)	7						GTTGCATATGTACCCTATAAA	0.333													C	96692758	T	C	96692758	3	2	104	1	0	0	0	0	1	0	0	0	3133	1638	57	3	1049	3	CDK17	12	96692758	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	380070	96692758	37159137	4598	71212											
C12orf63	374467	broad.mit.edu	37	chr12	97051678	97051678	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcctattgaagacaaaggaGaattcagtgttccaagctgt	10	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:97051678G>T	uc001tet.1	+	4	472	c.394G>T	c.(394-396)GAA>TAA	p.E132*		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	132										skin(6)|ovary(1)	7						AGACAAAGGAGAATTCAGTGT	0.323													T	97051678	G	T	97051678	4	4	104	1	0	0	0	0	0	1	0	0	1706	943	33	5	404	5	C12orf63	12	97051678	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	358920	97051678	36800217	4599	71213											
C12orf63	374467	broad.mit.edu	37	chr12	97093822	97093822	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaattttctatggaaaaaAcatgccttgtccaatacctg	5	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:97093822A>G	uc001tet.1	+	13	1778	c.1700A>G	c.(1699-1701)AAC>AGC	p.N567S		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	567										skin(6)|ovary(1)	7						TATGGAAAAAACATGCCTTGT	0.343													G	97093822	A	G	97093822	3	3	104	1	0	0	0	0	1	0	0	0	1706	43	2	3	1746	3	C12orf63	12	97093822	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	42144	97093822	36758073	4600	71214											
C12orf63	374467	broad.mit.edu	37	chr12	97136242	97136242	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaataaagatgacagtgAgtttttagatcctatttccc	7	6	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:97136242A>C	uc001tet.1	+	19	2450	c.2372A>C	c.(2371-2373)GAG>GCG	p.E791A		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	791										skin(6)|ovary(1)	7						GATGACAGTGAGTTTTTAGAT	0.348													C	97136242	A	C	97136242	3	2	104	1	0	0	0	0	1	0	0	0	1706	304	11	5	2442	5	C12orf63	12	97136242	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	42420	97136242	36715653	4601	71215											
NEDD1	121441	broad.mit.edu	37	chr12	97345812	97345812	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actacgagaagaaaacaaaaGattacgggcccacttttgaa	8	8	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:97345812G>T	uc001teu.3	+	16	2303	c.1964G>T	c.(1963-1965)AGA>ATA	p.R655I	NEDD1_uc001tev.3_Missense_Mutation_p.R655I|NEDD1_uc010svc.1_Missense_Mutation_p.R566I|NEDD1_uc001tew.2_Missense_Mutation_p.R662I|NEDD1_uc001tex.2_Missense_Mutation_p.R566I	NM_152905	NP_690869	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally	655					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol					0						GAAAACAAAAGATTACGGGCC	0.348													T	97345812	G	T	97345812	3	4	104	1	0	0	0	0	1	0	0	0	10309	942	33	5	2043	5	NEDD1	12	97345812	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	209570	97345812	36506083	4602	71216											
SLC25A3	5250	broad.mit.edu	37	chr12	98992403	98992403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatggaagctgctaaggttcGaattcaaacccagccaggtt	10	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:98992403G>A	uc001tfo.2	+	5	686	c.566G>A	c.(565-567)CGA>CAA	p.R189Q	SLC25A3_uc001tfm.2_Missense_Mutation_p.R188Q|SLC25A3_uc001tfn.2_Missense_Mutation_p.R188Q|SLC25A3_uc001tfp.2_Missense_Mutation_p.R188Q|SLC25A3_uc001tfq.2_Missense_Mutation_p.R58Q|SLC25A3_uc001tfr.2_Missense_Mutation_p.R189Q|SLC25A3_uc001tfs.2_Missense_Mutation_p.R145Q|SLC25A3_uc009ztn.2_Missense_Mutation_p.R188Q|SLC25A3_uc001tft.2_Missense_Mutation_p.R188Q|SNORA53_uc001tfu.1_5'Flank	NM_005888	NP_005879	Q00325	MPCP_HUMAN	solute carrier family 25 member 3 isoform a	189	Solcar 2.|Mitochondrial matrix (Potential).				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity				0		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GCTAAGGTTCGAATTCAAACC	0.438													A	98992403	G	A	98992403	3	1	104	1	0	0	0	0	1	0	0	0	14493	1058	37	1	706	1	SLC25A3	12	98992403	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1646591	98992403	34859492	4603	71217											
APAF1	317	broad.mit.edu	37	chr12	99080609	99080609	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgcagattttcaccagaTgataagcttttggctagttg	9	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:99080609T>G	uc001tfz.2	+	16	2839	c.2262T>G	c.(2260-2262)GAT>GAG	p.D754E	APAF1_uc001tfy.2_Missense_Mutation_p.D743E|APAF1_uc001tga.2_Missense_Mutation_p.D743E|APAF1_uc001tgb.2_Missense_Mutation_p.D754E|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Missense_Mutation_p.D163E	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	754	WD 4.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	TTTCACCAGATGATAAGCTTT	0.323													G	99080609	T	G	99080609	3	3	104	1	0	0	0	0	1	0	0	0	755	1461	51	5	2320	5	APAF1	12	99080609	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	88206	99080609	34771286	4604	71218											
APAF1	317	broad.mit.edu	37	chr12	99093197	99093197	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aattcaaagctttgggatgcGacatcagcaaatgagaggaa	11	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:99093197G>A	uc001tfz.2	+	17	2893	c.2316G>A	c.(2314-2316)GCG>GCA	p.A772A	APAF1_uc001tfy.2_Silent_p.A761A|APAF1_uc001tga.2_Silent_p.A761A|APAF1_uc001tgb.2_Silent_p.A772A|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Silent_p.A181A	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	772	WD 4.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	TTTGGGATGCGACATCAGCAA	0.328													A	99093197	G	A	99093197	2	1	104	1	0	0	0	0	0	0	0	1	755	1045	37	1		1	APAF1	12	99093197	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	12588	99093197	34758698	4605	71219											
SCYL2	55681	broad.mit.edu	37	chr12	100711646	100711646	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acccctcctgatgagataaaGaacagtgttctacccatggt	8	11	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:100711646G>T	uc001thn.2	+	10	1388	c.1338G>T	c.(1336-1338)AAG>AAT	p.K446N	SCYL2_uc009ztw.1_Missense_Mutation_p.K273N|SCYL2_uc001thm.1_Missense_Mutation_p.K446N	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 protein	446	HEAT.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			lung(3)|ovary(2)|skin(1)	6						ATGAGATAAAGAACAGTGTTC	0.343													T	100711646	G	T	100711646	3	4	104	1	0	0	0	0	1	0	0	0	13948	933	33	5	1372	5	SCYL2	12	100711646	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1618449	100711646	33140249	4606	71220											
SCYL2	55681	broad.mit.edu	37	chr12	100732689	100732689	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgtctgcccttaataatctCtttggccctcagaaacccaa	5	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:100732689C>A	uc001thn.2	+	18	2579	c.2529C>A	c.(2527-2529)CTC>CTA	p.L843L		NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 protein	843	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			lung(3)|ovary(2)|skin(1)	6						TTAATAATCTCTTTGGCCCTC	0.448													A	100732689	C	A	100732689	2	1	104	1	0	0	0	0	0	0	0	1	13948	900	32	5		5	SCYL2	12	100732689	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	21043	100732689	33119206	4607	71221											
SLC17A8	246213	broad.mit.edu	37	chr12	100806591	100806591	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctggtggttggcttttcGcataccaaaggggtggctat	13	9	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:100806591G>A	uc010svi.1	+	10	1543	c.1230G>A	c.(1228-1230)TCG>TCA	p.S410S	SLC17A8_uc009ztx.2_Silent_p.S360S	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	410	Helical; (Potential).				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3						TTGGCTTTTCGCATACCAAAG	0.448													A	100806591	G	A	100806591	2	1	104	1	0	0	0	0	0	0	0	1	14423	1074	38	1		1	SLC17A8	12	100806591	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	73902	100806591	33045304	4608	71222											
GAS2L3	283431	broad.mit.edu	37	chr12	101017768	101017768	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggcataacgaagaaaccGcaggctccttcaaacaatgc	8	11	1	1	rs61748062	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:101017768G>A	uc001thu.2	+	10	1411	c.1185G>A	c.(1183-1185)CCG>CCA	p.P395P	GAS2L3_uc009zty.2_Silent_p.P395P|GAS2L3_uc001thv.2_Silent_p.P291P	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	395					cell cycle arrest					skin(1)	1						CGAAGAAACCGCAGGCTCCTT	0.418													A	101017768	G	A	101017768	2	1	104	1	0	0	0	0	0	0	0	1	6248	1074	38	1		1	GAS2L3	12	101017768	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	211177	101017768	32834127	4609	71223											
ANO4	121601	broad.mit.edu	37	chr12	101381342	101381342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataaacaaataagcaggtttCggagatggttacctaagaag	10	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:101381342C>T	uc010svm.1	+	8	1200	c.628C>T	c.(628-630)CGG>TGG	p.R210W	ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.R175W|ANO4_uc001thx.2_Missense_Mutation_p.R210W	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	210	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						AAGCAGGTTTCGGAGATGGTT	0.507										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	101381342	C	T	101381342	3	4	104	1	0	0	0	0	1	0	0	0	699	875	31	1	545	1	ANO4	12	101381342	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	363574	101381342	32470553	4610	71224											
MYBPC1	4604	broad.mit.edu	37	chr12	102036355	102036355	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgcgcagagaggagaagaAgagcgcaggtgagcgctccc	16	10	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:102036355A>C	uc001tii.2	+	9	851	c.749A>C	c.(748-750)AAG>ACG	p.K250T	MYBPC1_uc001tif.1_Missense_Mutation_p.K263T|MYBPC1_uc001tig.2_Missense_Mutation_p.K275T|MYBPC1_uc010svq.1_Missense_Mutation_p.K237T|MYBPC1_uc001tih.2_Missense_Mutation_p.K275T|MYBPC1_uc001tij.2_Missense_Mutation_p.K250T|MYBPC1_uc010svr.1_Missense_Mutation_p.K250T|MYBPC1_uc010svs.1_Missense_Mutation_p.K250T|MYBPC1_uc010svt.1_Missense_Mutation_p.K238T|MYBPC1_uc010svu.1_Missense_Mutation_p.K231T|MYBPC1_uc001tik.2_Missense_Mutation_p.K224T	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	250					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						GAGGAGAAGAAGAGCGCAGGT	0.632													C	102036355	A	C	102036355	3	2	104	1	0	0	0	0	1	0	0	0	10011	72	3	5	866	5	MYBPC1	12	102036355	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	655013	102036355	31815540	4611	71225											
MYBPC1	4604	broad.mit.edu	37	chr12	102055019	102055019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgggagcctcctgcctacGacggaggctctccaatccta	10	15	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:102055019G>A	uc001tii.2	+	18	2038	c.1936G>A	c.(1936-1938)GAC>AAC	p.D646N	MYBPC1_uc001tig.2_Missense_Mutation_p.D671N|MYBPC1_uc010svq.1_Missense_Mutation_p.D633N|MYBPC1_uc001tih.2_Missense_Mutation_p.D671N|MYBPC1_uc001tij.2_Missense_Mutation_p.D646N|MYBPC1_uc010svr.1_Missense_Mutation_p.D646N|MYBPC1_uc010svs.1_Missense_Mutation_p.D646N|MYBPC1_uc010svt.1_Missense_Mutation_p.D634N|MYBPC1_uc010svu.1_Missense_Mutation_p.D627N|MYBPC1_uc001tik.2_Missense_Mutation_p.D620N	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	646	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						TCCTGCCTACGACGGAGGCTC	0.498													A	102055019	G	A	102055019	3	1	104	1	0	0	0	0	1	0	0	0	10011	1058	37	1	2089	1	MYBPC1	12	102055019	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	18664	102055019	31796876	4612	71226											
DRAM1	55332	broad.mit.edu	37	chr12	102313940	102313940	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatggacagtggcctttggTtttattttctacttcctaac	8	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:102313940T>C	uc001tix.2	+	6	1096	c.633T>C	c.(631-633)GGT>GGC	p.G211G	DRAM1_uc010svv.1_Intron	NM_018370	NP_060840	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	211	Helical; (Potential).				apoptosis|autophagy	integral to membrane|lysosomal membrane				ovary(1)	1						TGGCCTTTGGTTTTATTTTCT	0.333													C	102313940	T	C	102313940	2	2	104	1	0	0	0	0	0	0	0	1	4753	1712	60	3		3	DRAM1	12	102313940	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	258921	102313940	31537955	4613	71227											
PAH	5053	broad.mit.edu	37	chr12	103240677	103240677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagaagggacttactgtgGcgagcttttcaatgtattca	12	6	2	1	rs62514958		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:103240677G>A	uc001tjq.1	-	10	1437	c.965C>T	c.(964-966)GCC>GTC	p.A322V		NM_000277	NP_000268	P00439	PH4H_HUMAN	phenylalanine hydroxylase	322			A -> T (in PKU; haplotype 1).|A -> G (in PKU; haplotype 12).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	ACTTACTGTGGCGAGCTTTTC	0.493													A	103240677	G	A	103240677	3	1	104	1	0	0	0	0	1	0	0	0	11394	1203	42	2	413	2	PAH	12	103240677	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	926737	103240677	30611218	4614	71228											
STAB2	55576	broad.mit.edu	37	chr12	103984697	103984697	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagaagatgtgataggaagtCtcttcttacaattaggaccg	10	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:103984697C>A	uc001tjw.2	+	2	290	c.104C>A	c.(103-105)TCT>TAT	p.S35Y		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	35	Extracellular (Potential).				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						GATAGGAAGTCTCTTCTTACA	0.433													A	103984697	C	A	103984697	3	1	104	1	0	0	0	0	1	0	0	0	15237	913	32	5	110	5	STAB2	12	103984697	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	744020	103984697	29867198	4615	71229											
STAB2	55576	broad.mit.edu	37	chr12	104049338	104049338	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacatgaaggacggcactctCgattacctcctttctccaga	7	13	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:104049338C>T	uc001tjw.2	+	15	1899	c.1713C>T	c.(1711-1713)CTC>CTT	p.L571L		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	571	Extracellular (Potential).|FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						ACGGCACTCTCGATTACCTCC	0.453													T	104049338	C	T	104049338	2	4	104	1	0	0	0	0	0	0	0	1	15237	871	31	1		1	STAB2	12	104049338	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	64641	104049338	29802557	4616	71230											
STAB2	55576	broad.mit.edu	37	chr12	104089398	104089398	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggctggaacagatgcctgActattccatcttccggggct	12	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:104089398A>G	uc001tjw.2	+	32	3632	c.3446A>G	c.(3445-3447)GAC>GGC	p.D1149G		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1149	Extracellular (Potential).|FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CAGATGCCTGACTATTCCATC	0.507													G	104089398	A	G	104089398	3	3	104	1	0	0	0	0	1	0	0	0	15237	275	10	3	3572	3	STAB2	12	104089398	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	40060	104089398	29762497	4617	71231											
STAB2	55576	broad.mit.edu	37	chr12	104098388	104098388	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgcccattcggaactaaatCtctagtaagtactttgtctg	7	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:104098388C>A	uc001tjw.2	+	36	4082	c.3896C>A	c.(3895-3897)TCT>TAT	p.S1299Y		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1299	Extracellular (Potential).				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						GGAACTAAATCTCTAGTAAGT	0.368													A	104098388	C	A	104098388	3	1	104	1	0	0	0	0	1	0	0	0	15237	913	32	5	4038	5	STAB2	12	104098388	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	8990	104098388	29753507	4618	71232											
STAB2	55576	broad.mit.edu	37	chr12	104136216	104136216	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagatgccccgtgtaataAccggggtgtctgccttgatc	11	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:104136216A>G	uc001tjw.2	+	56	6101	c.5915A>G	c.(5914-5916)AAC>AGC	p.N1972S	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1972	Extracellular (Potential).|Laminin EGF-like 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CCGTGTAATAACCGGGGTGTC	0.562													G	104136216	A	G	104136216	3	3	104	1	0	0	0	0	1	0	0	0	15237	43	2	3	6137	3	STAB2	12	104136216	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	37828	104136216	29715679	4619	71233											
HSP90B1	7184	broad.mit.edu	37	chr12	104326616	104326616	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccatttagattttcctgagaGaactgatttcaaatgcttct	6	8	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:104326616G>T	uc001tkb.1	+	4	412	c.307G>T	c.(307-309)GAA>TAA	p.E103*	HSP90B1_uc010swg.1_Intron|HSP90B1_uc009zui.1_Nonsense_Mutation_p.E103*|LOC253724_uc010swf.1_5'Flank|LOC253724_uc009zuh.2_5'Flank	NM_003299	NP_003290	P14625	ENPL_HUMAN	heat shock protein 90kDa beta, member 1	103					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			ovary(2)|skin(1)	3					Rifabutin(DB00615)	TTTCCTGAGAGAACTGATTTC	0.343													T	104326616	G	T	104326616	4	4	104	1	0	0	0	0	0	1	0	0	7403	943	33	5	321	5	HSP90B1	12	104326616	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	190400	104326616	29525279	4620	71234											
EID3	493861	broad.mit.edu	37	chr12	104697977	104697977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaccagagaagcagccctcGacgcccggtttcttgttatg	11	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:104697977G>A	uc001tkw.2	+	1	429	c.265G>A	c.(265-267)GAC>AAC	p.D89N	TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0						AGCAGCCCTCGACGCCCGGTT	0.483													A	104697977	G	A	104697977	3	1	104	1	0	0	0	0	1	0	0	0	4989	1058	37	1	267	1	EID3	12	104697977	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	371361	104697977	29153918	4621	71235											
ALDH1L2	160428	broad.mit.edu	37	chr12	105462629	105462629	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatcagcccagaaaacagaAaacccagctttcttatctcc	4	14	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:105462629A>C	uc001tlc.2	-	4	589	c.462T>G	c.(460-462)TTT>TTG	p.F154L	ALDH1L2_uc009zuo.2_5'Flank|ALDH1L2_uc009zup.2_RNA	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	154	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			skin(1)	1						AGAAAACAGAAAACCCAGCTT	0.363													C	105462629	A	C	105462629	3	2	104	1	0	0	0	0	1	0	0	0	495	11	1	5	2389	5	ALDH1L2	12	105462629	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	764652	105462629	28389266	4622	71236											
KIAA1033	23325	broad.mit.edu	37	chr12	105543428	105543428	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagtttttgaaaaagaagttCtatatatttagccaatttat	5	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:105543428C>A	uc001tld.2	+	25	2637	c.2550C>A	c.(2548-2550)TTC>TTA	p.F850L	KIAA1033_uc010swr.1_Missense_Mutation_p.F851L|KIAA1033_uc010sws.1_Missense_Mutation_p.F662L	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	hypothetical protein LOC23325	850					endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2						AAAAGAAGTTCTATATATTTA	0.199													A	105543428	C	A	105543428	3	1	104	1	0	0	0	0	1	0	0	0	8206	912	32	5	2648	5	KIAA1033	12	105543428	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	80799	105543428	28308467	4623	71237											
NUAK1	9891	broad.mit.edu	37	chr12	106460770	106460770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgcagagacgcagctgCggatgcgctggcgggcaggg	18	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:106460770C>T	uc001tlj.1	-	7	3176	c.1796G>A	c.(1795-1797)CGC>CAC	p.R599H		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	599							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						GACGCAGCTGCGGATGCGCTG	0.617													T	106460770	C	T	106460770	3	4	104	1	0	0	0	0	1	0	0	0	10712	768	27	1	193	1	NUAK1	12	106460770	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	917342	106460770	27391125	4624	71238											
NUAK1	9891	broad.mit.edu	37	chr12	106461428	106461428	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcactgcatcctgaccagActgagcaaagtcattctctt	8	12	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:106461428A>C	uc001tlj.1	-	7	2518	c.1138T>G	c.(1138-1140)TCT>GCT	p.S380A		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	380							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						TCCTGACCAGACTGAGCAAAG	0.537													C	106461428	A	C	106461428	3	2	104	1	0	0	0	0	1	0	0	0	10712	275	10	5	851	5	NUAK1	12	106461428	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	658	106461428	27390467	4625	71239											
MTERFD3	80298	broad.mit.edu	37	chr12	107372416	107372416	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcatgctaagaaaggtctgTattttggaggtgatcgcatc	12	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:107372416T>C	uc001tme.1	-	2	1896	c.77A>G	c.(76-78)TAC>TGC	p.Y26C	MTERFD3_uc001tmf.1_Missense_Mutation_p.Y26C|MTERFD3_uc001tmg.1_Missense_Mutation_p.Y26C|MTERFD3_uc001tmh.1_Missense_Mutation_p.Y26C	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	transcription termination factor-like protein	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding				0						GAAAGGTCTGTATTTTGGAGG	0.418													C	107372416	T	C	107372416	3	2	104	1	0	0	0	0	1	0	0	0	9921	1638	57	3	1084	3	MTERFD3	12	107372416	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	910988	107372416	26479479	4626	71240											
CRY1	1407	broad.mit.edu	37	chr12	107395696	107395696	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaatcttttataagttagAggcggttgtccaccattgag	11	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:107395696A>G	uc001tmi.3	-	4	1300	c.441T>C	c.(439-441)CCT>CCC	p.P147P		NM_004075	NP_004066	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	147	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			ovary(3)	3						TATAAGTTAGAGGCGGTTGTC	0.353													G	107395696	A	G	107395696	2	3	104	1	0	0	0	0	0	0	0	1	3903	291	11	3		3	CRY1	12	107395696	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	23280	107395696	26456199	4627	71241											
PRDM4	11108	broad.mit.edu	37	chr12	108128239	108128239	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcatgagaattgagatgcttCtttaagtgatttgttctcaa	8	5	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:108128239C>T	uc001tmp.2	-	12	2591	c.2154G>A	c.(2152-2154)AAG>AAA	p.K718K	PRDM4_uc010sww.1_Silent_p.K125K|PRDM4_uc001tmq.2_RNA	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	718	C2H2-type 5.				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						TGAGATGCTTCTTTAAGTGAT	0.393													T	108128239	C	T	108128239	2	4	104	1	0	0	0	0	0	0	0	1	12459	912	32	4		4	PRDM4	12	108128239	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	732543	108128239	25723656	4628	71242											
WSCD2	9671	broad.mit.edu	37	chr12	108626627	108626627	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcattgaattggccacaggcTtctacactggcagctactac	8	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:108626627T>G	uc001tms.2	+	7	1843	c.1099T>G	c.(1099-1101)TTC>GTC	p.F367V	WSCD2_uc001tmt.2_Missense_Mutation_p.F367V|WSCD2_uc001tmu.2_Missense_Mutation_p.F115V	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	367						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						GGCCACAGGCTTCTACACTGG	0.582													G	108626627	T	G	108626627	3	3	104	1	0	0	0	0	1	0	0	0	17404	1609	56	5	1121	5	WSCD2	12	108626627	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	498388	108626627	25225268	4629	71243											
DAO	1610	broad.mit.edu	37	chr12	109283296	109283296	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcggaagctgacccccagaGagctggatatgttcccagat	11	11	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:109283296G>T	uc001tnr.3	+	4	514	c.361G>T	c.(361-363)GAG>TAG	p.E121*	DAO_uc001tnq.3_Intron|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	NM_001917	NP_001908	P14920	OXDA_HUMAN	D-amino-acid oxidase	121					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			ovary(1)|skin(1)	2						GACCCCCAGAGAGCTGGATAT	0.542													T	109283296	G	T	109283296	4	4	104	1	0	0	0	0	0	1	0	0	4231	943	33	5	371	5	DAO	12	109283296	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	656669	109283296	24568599	4630	71244											
ACACB	32	broad.mit.edu	37	chr12	109613808	109613808	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccagaagatgtttatgAcaagggttgcgtgaaagacg	13	6	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:109613808A>G	uc001tob.2	+	8	1408	c.1289A>G	c.(1288-1290)GAC>GGC	p.D430G	ACACB_uc001toc.2_Missense_Mutation_p.D430G	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	430	Biotin carboxylation.|ATP-grasp.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	GATGTTTATGACAAGGGTTGC	0.527													G	109613808	A	G	109613808	3	3	104	1	0	0	0	0	1	0	0	0	107	275	10	3	1315	3	ACACB	12	109613808	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	330512	109613808	24238087	4631	71245											
ACACB	32	broad.mit.edu	37	chr12	109613968	109613968	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgcacccaggcagcagaaaGaattggttttccattgatga	10	8	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:109613968G>T	uc001tob.2	+	9	1456	c.1337G>T	c.(1336-1338)AGA>ATA	p.R446I	ACACB_uc001toc.2_Missense_Mutation_p.R446I	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	446	Biotin carboxylation.|ATP-grasp.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	GCAGCAGAAAGAATTGGTTTT	0.527													T	109613968	G	T	109613968	3	4	104	1	0	0	0	0	1	0	0	0	107	942	33	5	1367	5	ACACB	12	109613968	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	160	109613968	24237927	4632	71246											
ACACB	32	broad.mit.edu	37	chr12	109684234	109684234	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttccacgtggcttgggtggAcccagaagacccccacaaag	12	13	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:109684234A>G	uc001tob.2	+	39	5671	c.5552A>G	c.(5551-5553)GAC>GGC	p.D1851G	ACACB_uc001toc.2_Missense_Mutation_p.D1851G|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.D517G	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1851	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	GCTTGGGTGGACCCAGAAGAC	0.552													G	109684234	A	G	109684234	3	3	104	1	0	0	0	0	1	0	0	0	107	275	10	3	5702	3	ACACB	12	109684234	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	70266	109684234	24167661	4633	71247											
FOXN4	121643	broad.mit.edu	37	chr12	109719237	109719237	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagcgaagtccatgatgctCgggtcgagggcatccacctc	13	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:109719237C>T	uc001toe.3	-	9	1374	c.1269G>A	c.(1267-1269)CCG>CCA	p.P423P	FOXN4_uc009zvg.2_Silent_p.P220P|FOXN4_uc001tof.3_Silent_p.P243P	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	forkhead box N4	423					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)|lung(1)	2						CCATGATGCTCGGGTCGAGGG	0.627													T	109719237	C	T	109719237	2	4	104	1	0	0	0	0	0	0	0	1	6022	871	31	1		1	FOXN4	12	109719237	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	35003	109719237	24132658	4634	71248											
TRPV4	59341	broad.mit.edu	37	chr12	110252352	110252352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagggtggactccagcagatCgatggggttgggcaccccct	15	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:110252352C>T	uc001tpj.1	-	1	345	c.250G>A	c.(250-252)GAT>AAT	p.D84N	TRPV4_uc001tpg.1_Missense_Mutation_p.D50N|TRPV4_uc001tph.1_Missense_Mutation_p.D84N|TRPV4_uc001tpi.1_Missense_Mutation_p.D84N|TRPV4_uc001tpk.1_Missense_Mutation_p.D84N|TRPV4_uc001tpl.1_Missense_Mutation_p.D84N	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	84	Cytoplasmic (Potential).				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TCCAGCAGATCGATGGGGTTG	0.617													T	110252352	C	T	110252352	3	4	104	1	0	0	0	0	1	0	0	0	16595	884	31	1	2425	1	TRPV4	12	110252352	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	533115	110252352	23599543	4635	71249											
ANKRD13A	88455	broad.mit.edu	37	chr12	110461908	110461908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaagttgttaatggttaCgaagcaaaggtaaaaggaaa	12	3	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:110461908C>T	uc001tpx.2	+	7	1051	c.792C>T	c.(790-792)TAC>TAT	p.Y264Y	ANKRD13A_uc009zvl.1_Intron|ANKRD13A_uc010sxw.1_Silent_p.Y264Y|ANKRD13A_uc001tpy.2_5'Flank	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13	264											0						TTAATGGTTACGAAGCAAAGG	0.343													T	110461908	C	T	110461908	2	4	104	1	0	0	0	0	0	0	0	1	641	547	19	1		1	ANKRD13A	12	110461908	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	209556	110461908	23389987	4636	71250											
ATP2A2	488	broad.mit.edu	37	chr12	110780120	110780120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactgcggtggctaaaaccGcctctgagatggtcctggcg	14	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:110780120G>A	uc001tqk.3	+	15	2748	c.2185G>A	c.(2185-2187)GCC>ACC	p.A729T	ATP2A2_uc001tql.3_Missense_Mutation_p.A729T|ATP2A2_uc010sxy.1_Missense_Mutation_p.A702T	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	729	Cytoplasmic (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)|skin(1)	4						GGCTAAAACCGCCTCTGAGAT	0.547													A	110780120	G	A	110780120	3	1	104	1	0	0	0	0	1	0	0	0	1137	1087	38	1	2243	1	ATP2A2	12	110780120	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	318212	110780120	23071775	4637	71251											
MYL2	4633	broad.mit.edu	37	chr12	111352028	111352028	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acattgtgaggaacacagtaAagttaattggacccggagcc	11	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:111352028A>C	uc001try.3	-	4	307	c.236T>G	c.(235-237)TTT>TGT	p.F79C	MYL2_uc001trx.3_Missense_Mutation_p.F60C	NM_000432	NP_000423	P10916	MLRV_HUMAN	slow cardiac myosin regulatory light chain 2	79					cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			ovary(1)	1						GAACACAGTAAAGTTAATTGG	0.398													C	111352028	A	C	111352028	3	2	104	1	0	0	0	0	1	0	0	0	10047	14	1	5	280	5	MYL2	12	111352028	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	571908	111352028	22499867	4638	71252											
MYL2	4633	broad.mit.edu	37	chr12	111356915	111356915	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagctgcacccacctccttaAattcctggatttgggtctgt	8	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:111356915A>C	uc001try.3	-	2	157	c.86T>G	c.(85-87)TTT>TGT	p.F29C	MYL2_uc001trx.3_Missense_Mutation_p.F10C	NM_000432	NP_000423	P10916	MLRV_HUMAN	slow cardiac myosin regulatory light chain 2	29	EF-hand 1.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			ovary(1)	1						CACCTCCTTAAATTCCTGGAT	0.512													C	111356915	A	C	111356915	3	2	104	1	0	0	0	0	1	0	0	0	10047	14	1	5	438	5	MYL2	12	111356915	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	4887	111356915	22494980	4639	71253											
CUX2	23316	broad.mit.edu	37	chr12	111749952	111749952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagacaggctcagacgacgCcatcaagagcattctagagc	11	11	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:111749952C>T	uc001tsa.1	+	16	2102	c.1949C>T	c.(1948-1950)GCC>GTC	p.A650V		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	650						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						TCAGACGACGCCATCAAGAGC	0.617													T	111749952	C	T	111749952	3	4	104	1	0	0	0	0	1	0	0	0	4065	739	26	2	2011	2	CUX2	12	111749952	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	393037	111749952	22101943	4640	71254											
C12orf51	283450	broad.mit.edu	37	chr12	112667668	112667668	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaattgtggaatgtacatcAgtgctctagacagaacctaa	8	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:112667668A>C	uc009zwc.2	-	34	5105	c.5087T>G	c.(5086-5088)CTG>CGG	p.L1696R	C12orf51_uc001ttr.1_5'Flank	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						AATGTACATCAGTGCTCTAGA	0.453													C	112667668	A	C	112667668	3	2	104	1	0	0	0	0	1	0	0	0	1696	188	7	5	7047	5	C12orf51	12	112667668	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	917716	112667668	21184227	4641	71255											
C12orf51	283450	broad.mit.edu	37	chr12	112721041	112721041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaatgcttttggcagattcGccctcttttctcattagaat	6	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:112721041G>A	uc009zwc.2	-	2	237	c.219C>T	c.(217-219)GGC>GGT	p.G73G		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						TGGCAGATTCGCCCTCTTTTC	0.428													A	112721041	G	A	112721041	2	1	104	1	0	0	0	0	0	0	0	1	1696	1074	38	1		1	C12orf51	12	112721041	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	53373	112721041	21130854	4642	71256											
PTPN11	5781	broad.mit.edu	37	chr12	112939971	112939971	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaagaggaaagggcacgaAtatacaaatattaagtattc	9	5	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:112939971A>C	uc001ttx.2	+	14	2003	c.1623A>C	c.(1621-1623)GAA>GAC	p.E541D		NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	545					axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392						AAGGGCACGAATATACAAATA	0.448			Mis		JMML|AML|MDS		Noonan Syndrome		Noonan_syndrome				C	112939971	A	C	112939971	3	2	104	1	0	0	0	0	1	0	0	0	12780	98	4	5	1677	5	PTPN11	12	112939971	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	218930	112939971	20911924	4643	71257											
OAS1	4938	broad.mit.edu	37	chr12	113346601	113346601	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcggggagggggtggagttCgatgtgctgcctgcctttga	18	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:113346601C>T	uc001tud.2	+	2	547	c.441C>T	c.(439-441)TTC>TTT	p.F147F	OAS1_uc010syn.1_Silent_p.F146F|OAS1_uc010syo.1_Silent_p.F146F|OAS1_uc001tub.2_Silent_p.F147F|OAS1_uc001tuc.2_Silent_p.F147F|OAS1_uc009zwf.2_Silent_p.F146F	NM_016816	NP_058132	P00973	OAS1_HUMAN	2',5'-oligoadenylate synthetase 1 isoform 1	147	Necessary for binding to dsRNA.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(2)	2						GGGTGGAGTTCGATGTGCTGC	0.567													T	113346601	C	T	113346601	2	4	104	1	0	0	0	0	0	0	0	1	10799	883	31	1		1	OAS1	12	113346601	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	406630	113346601	20505294	4644	71258											
OAS3	4940	broad.mit.edu	37	chr12	113384669	113384669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcctagccgaaggcctccGaactgtcctgggcctgatcc	11	16	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:113384669G>A	uc001tug.2	+	4	845	c.758G>A	c.(757-759)CGA>CAA	p.R253Q		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	253	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1						GAAGGCCTCCGAACTGTCCTG	0.577													A	113384669	G	A	113384669	3	1	104	1	0	0	0	0	1	0	0	0	10801	1058	37	1	772	1	OAS3	12	113384669	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	38068	113384669	20467226	4645	71259											
OAS2	4939	broad.mit.edu	37	chr12	113416560	113416560	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgtcctgcaggaacccgaAcagttccccctggtgcaggg	13	14	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:113416560A>G	uc001tuj.2	+	1	287	c.147A>G	c.(145-147)GAA>GAG	p.E49E	OAS2_uc001tuh.2_Silent_p.E49E|OAS2_uc001tui.1_Silent_p.E49E	NM_016817	NP_058197	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2 isoform 1	49	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(1)	1						AGGAACCCGAACAGTTCCCCC	0.572													G	113416560	A	G	113416560	2	3	104	1	0	0	0	0	0	0	0	1	10800	40	2	3		3	OAS2	12	113416560	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	31891	113416560	20435335	4646	71260											
PLBD2	196463	broad.mit.edu	37	chr12	113812324	113812324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggcctggaggacagctacGaaggccgtgtgagcttccca	14	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:113812324G>A	uc001tve.2	+	4	624	c.589G>A	c.(589-591)GAA>AAA	p.E197K	PLBD2_uc001tvf.2_Missense_Mutation_p.E197K	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2 isoform 1	197					lipid catabolic process	lysosomal lumen	hydrolase activity				0						GGACAGCTACGAAGGCCGTGT	0.547													A	113812324	G	A	113812324	3	1	104	1	0	0	0	0	1	0	0	0	12026	1059	37	1	603	1	PLBD2	12	113812324	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	395764	113812324	20039571	4647	71261											
TBX5	6910	broad.mit.edu	37	chr12	114832669	114832669	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacgatgtgtaatctaggCtggtatttgtgcatggaatt	11	5	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:114832669C>T	uc001tvo.2	-	6	1035	c.540G>A	c.(538-540)CAG>CAA	p.Q180Q	TBX5_uc001tvp.2_Silent_p.Q180Q|TBX5_uc001tvq.2_Silent_p.Q130Q|TBX5_uc010syv.1_Silent_p.Q180Q	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	180	T-box.				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GTAATCTAGGCTGGTATTTGT	0.363													T	114832669	C	T	114832669	2	4	104	1	0	0	0	0	0	0	0	1	15658	796	28	2		2	TBX5	12	114832669	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1020345	114832669	19019226	4648	71262											
MED13L	23389	broad.mit.edu	37	chr12	116425055	116425055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcagggacaacagcatacGaaccacatcctgggaggaga	12	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:116425055G>A	uc001tvw.2	-	18	4028	c.3973C>T	c.(3973-3975)CGT>TGT	p.R1325C		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1325					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AACAGCATACGAACCACATCC	0.552													A	116425055	G	A	116425055	3	1	104	1	0	0	0	0	1	0	0	0	9431	1058	37	1	2715	1	MED13L	12	116425055	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1592386	116425055	17426840	4649	71263											
C12orf49	79794	broad.mit.edu	37	chr12	117158242	117158242	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcaaatccttcctctcGcaaacgtagcctgaaagtca	6	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:117158242G>A	uc001tvz.1	-	3	417	c.279C>T	c.(277-279)TGC>TGT	p.C93C	C12orf49_uc009zwm.1_Silent_p.C63C	NM_024738	NP_079014	Q9H741	CL049_HUMAN	hypothetical protein LOC79794 precursor	93						extracellular region				ovary(1)	1	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		CCTTCCTCTCGCAAACGTAGC	0.532													A	117158242	G	A	117158242	2	1	104	1	0	0	0	0	0	0	0	1	1693	1079	38	1		1	C12orf49	12	117158242	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	733187	117158242	16693653	4650	71264											
NOS1	4842	broad.mit.edu	37	chr12	117685282	117685282	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacagcgtgtccgaaggcGcaaaagtgagggtatgctcg	14	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:117685282G>A	uc001twm.1	-	18	3380	c.2694C>T	c.(2692-2694)TGC>TGT	p.C898C		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	898	FMN (By similarity).|Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTCCGAAGGCGCAAAAGTGAG	0.557													A	117685282	G	A	117685282	2	1	104	1	0	0	0	0	0	0	0	1	10541	1079	38	1		1	NOS1	12	117685282	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	527040	117685282	16166613	4651	71265											
NOS1	4842	broad.mit.edu	37	chr12	117691546	117691546	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggagacgctgttgaatcGgaccttgtagctcctgccaa	13	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:117691546G>A	uc001twm.1	-	17	3231	c.2545C>T	c.(2545-2547)CGA>TGA	p.R849*	NOS1_uc001twn.1_Nonsense_Mutation_p.R53*	NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	849	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTGTTGAATCGGACCTTGTAG	0.542													A	117691546	G	A	117691546	4	1	104	1	0	0	0	0	0	1	0	0	10541	1124	39	1	1811	1	NOS1	12	117691546	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	6264	117691546	16160349	4652	71266											
NOS1	4842	broad.mit.edu	37	chr12	117723132	117723132	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggtgcagtcacgggcatcGaatacctggaagaggcacag	15	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:117723132G>A	uc001twm.1	-	7	1982	c.1296C>T	c.(1294-1296)TTC>TTT	p.F432F		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	432					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CACGGGCATCGAATACCTGGA	0.552													A	117723132	G	A	117723132	2	1	104	1	0	0	0	0	0	0	0	1	10541	1049	37	1		1	NOS1	12	117723132	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	31586	117723132	16128763	4653	71267											
RFC5	5985	broad.mit.edu	37	chr12	118467596	118467596	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgactttccatcttcagttCgaatacatttattgaccaaa	4	9	2	2	rs141299152		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:118467596C>T	uc001twq.2	+	10	1017	c.892C>T	c.(892-894)CGA>TGA	p.R298*	RFC5_uc010syx.1_Nonsense_Mutation_p.R277*|RFC5_uc010syy.1_Nonsense_Mutation_p.R277*|RFC5_uc010syz.1_Nonsense_Mutation_p.R213*|RFC5_uc009zwr.2_Nonsense_Mutation_p.R295*	NM_007370	NP_031396	P40937	RFC5_HUMAN	replication factor C 5 isoform 1	298					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCTTCAGTTCGAATACATTT	0.363													T	118467596	C	T	118467596	4	4	104	1	0	0	0	0	0	1	0	0	13248	876	31	1	936	1	RFC5	12	118467596	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	744464	118467596	15384299	4654	71268											
SUDS3	64426	broad.mit.edu	37	chr12	118828948	118828948	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagactgaacaagtggaacgAaattacattaaagaaaagaa	8	5	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:118828948A>C	uc001twz.2	+	6	517	c.378A>C	c.(376-378)CGA>CGC	p.R126R		NM_022491	NP_071936	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3	126	Potential.				chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGTGGAACGAAATTACATTA	0.448													C	118828948	A	C	118828948	2	2	104	1	0	0	0	0	0	0	0	1	15366	233	9	5		5	SUDS3	12	118828948	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	361352	118828948	15022947	4655	71269											
CCDC60	160777	broad.mit.edu	37	chr12	119943093	119943093	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttcaaccaagccagatgaaGaacctctgtatatgagtaag	8	9	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:119943093G>T	uc001txe.2	+	7	1333	c.868G>T	c.(868-870)GAA>TAA	p.E290*	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	290										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GCCAGATGAAGAACCTCTGTA	0.502													T	119943093	G	T	119943093	4	4	104	1	0	0	0	0	0	1	0	0	2831	943	33	5	894	5	CCDC60	12	119943093	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1114145	119943093	13908802	4656	71270											
CIT	11113	broad.mit.edu	37	chr12	120204980	120204980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctcccgatgtttctcttCgagctcctagacacaaaaga	8	13	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:120204980C>T	uc001txi.1	-	18	2142	c.2089G>A	c.(2089-2091)GAA>AAA	p.E697K	CIT_uc001txh.1_Missense_Mutation_p.E231K|CIT_uc001txj.1_Missense_Mutation_p.E739K	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	697	Potential.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGTTTCTCTTCGAGCTCCTAG	0.473													T	120204980	C	T	120204980	3	4	104	1	0	0	0	0	1	0	0	0	3438	893	31	1	4114	1	CIT	12	120204980	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	261887	120204980	13646915	4657	71271											
MSI1	4440	broad.mit.edu	37	chr12	120795629	120795629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaactcaccattttgttgTtgatttcatgaaaatgaatt	5	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:120795629T>C	uc001tye.1	-	8	588	c.524A>G	c.(523-525)AAC>AGC	p.N175S		NM_002442	NP_002433	O43347	MSI1H_HUMAN	musashi 1	175	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			central_nervous_system(2)|breast(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATTTTGTTGTTGATTTCATG	0.254													C	120795629	T	C	120795629	3	2	104	1	0	0	0	0	1	0	0	0	9875	1725	60	3	592	3	MSI1	12	120795629	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	590649	120795629	13056266	4658	71272											
OASL	8638	broad.mit.edu	37	chr12	121458569	121458569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggggttgatggcatagGcgtagctcccaccatcagga	14	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:121458569G>A	uc001tzj.1	-	6	1346	c.1340C>T	c.(1339-1341)GCC>GTC	p.A447V	OASL_uc001tzk.1_3'UTR	NM_003733	NP_003724	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like isoform a	447	Ubiquitin-like 2.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			skin(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATGGCATAGGCGTAGCTCCC	0.532													A	121458569	G	A	121458569	3	1	104	1	0	0	0	0	1	0	0	0	10802	1203	42	2	208	2	OASL	12	121458569	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	662940	121458569	12393326	4659	71273											
P2RX4	5025	broad.mit.edu	37	chr12	121666569	121666569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccactacttacctcaagtCgtgcatttatgatgctaaaa	5	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:121666569C>T	uc001tzr.2	+	7	951	c.647C>T	c.(646-648)TCG>TTG	p.S216L	P2RX4_uc010szr.1_RNA|P2RX4_uc010szs.1_RNA|P2RX4_uc009zxc.2_Missense_Mutation_p.S189L|P2RX4_uc001tzs.2_Missense_Mutation_p.S232L|P2RX4_uc009zxb.2_RNA|P2RX4_uc010szt.1_Missense_Mutation_p.S115L	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	purinergic receptor P2X4	216	Extracellular (Potential).				endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TACCTCAAGTCGTGCATTTAT	0.473													T	121666569	C	T	121666569	3	4	104	1	0	0	0	0	1	0	0	0	11342	893	31	1	673	1	P2RX4	12	121666569	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	208000	121666569	12185326	4660	71274											
P2RX4	5025	broad.mit.edu	37	chr12	121666584	121666584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtcgtgcatttatgatgCtaaaacagatcccttctgcc	7	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:121666584C>T	uc001tzr.2	+	7	966	c.662C>T	c.(661-663)GCT>GTT	p.A221V	P2RX4_uc010szr.1_RNA|P2RX4_uc010szs.1_RNA|P2RX4_uc009zxc.2_Missense_Mutation_p.A194V|P2RX4_uc001tzs.2_Missense_Mutation_p.A237V|P2RX4_uc009zxb.2_RNA|P2RX4_uc010szt.1_Missense_Mutation_p.A120V	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	purinergic receptor P2X4	221	Extracellular (Potential).				endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATTTATGATGCTAAAACAGAT	0.498													T	121666584	C	T	121666584	3	4	104	1	0	0	0	0	1	0	0	0	11342	797	28	2	688	2	P2RX4	12	121666584	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	15	121666584	12185311	4661	71275											
MORN3	283385	broad.mit.edu	37	chr12	122097145	122097145	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtagactctcctgcacttTcctgtctgttggtcaggaag	11	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:122097145T>C	uc001uax.2	-	2	426	c.255A>G	c.(253-255)GGA>GGG	p.G85G	MORN3_uc001uay.2_RNA	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	85											0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		TCCTGCACTTTCCTGTCTGTT	0.483													C	122097145	T	C	122097145	2	2	104	1	0	0	0	0	0	0	0	1	9709	1770	62	3		3	MORN3	12	122097145	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	430561	122097145	11754750	4662	71276											
LRRC43	254050	broad.mit.edu	37	chr12	122685454	122685454	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcggcgtggtccgcacattGacatctgacaggctgacgtt	12	11	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:122685454G>A	uc009zxm.2	+	10	1807	c.1782G>A	c.(1780-1782)TTG>TTA	p.L594L	LRRC43_uc001ubw.3_Silent_p.L409L|LRRC43_uc009zxn.2_Silent_p.L355L|B3GNT4_uc001ubx.2_5'Flank|B3GNT4_uc001uby.2_5'Flank	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	594											0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TCCGCACATTGACATCTGACA	0.682													A	122685454	G	A	122685454	2	1	104	1	0	0	0	0	0	0	0	1	9001	1281	45	4		4	LRRC43	12	122685454	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	588309	122685454	11166441	4663	71277											
VPS33A	65082	broad.mit.edu	37	chr12	122748207	122748207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacatcagctgccggcaaacGatttcctttaagtgtgaaca	8	11	1	1	rs150472752		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:122748207G>A	uc001ucd.2	-	3	321	c.208C>T	c.(208-210)CGT>TGT	p.R70C	VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Missense_Mutation_p.R70C	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33A	70					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			skin(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GCCGGCAAACGATTTCCTTTA	0.373													A	122748207	G	A	122748207	3	1	104	1	0	0	0	0	1	0	0	0	17198	1058	37	1	1626	1	VPS33A	12	122748207	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	62753	122748207	11103688	4664	71278											
CLIP1	6249	broad.mit.edu	37	chr12	122757586	122757586	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtgtcgtggagatcaaAgcagtcacaaatgtcacaga	10	9	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:122757586A>C	uc001ucg.1	-	25	4259	c.4153T>G	c.(4153-4155)TTT>GTT	p.F1385V	CLIP1_uc001uch.1_Missense_Mutation_p.F1374V|CLIP1_uc001uci.1_Missense_Mutation_p.F1339V|CLIP1_uc001ucf.1_Missense_Mutation_p.F44V	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	1385					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TGGAGATCAAAGCAGTCACAA	0.473													C	122757586	A	C	122757586	3	2	104	1	0	0	0	0	1	0	0	0	3532	72	3	5	167	5	CLIP1	12	122757586	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	9379	122757586	11094309	4665	71279											
RSRC2	65117	broad.mit.edu	37	chr12	123001843	123001843	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgatcttgagcgggaacgaGacctgatccgccgttttctt	11	10	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:123001843G>A	uc001ucr.2	-	5	679	c.533C>T	c.(532-534)TCT>TTT	p.S178F	RSRC2_uc001uco.2_5'UTR|RSRC2_uc001ucp.2_Missense_Mutation_p.S119F|RSRC2_uc001ucq.2_5'UTR|RSRC2_uc001ucs.2_5'UTR|RSRC2_uc001uct.2_Missense_Mutation_p.S130F|RSRC2_uc001ucu.2_Missense_Mutation_p.S178F	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2 isoform a	178	Ser-rich.									ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GCGGGAACGAGACCTGATCCG	0.488													A	123001843	G	A	123001843	3	1	104	1	0	0	0	0	1	0	0	0	13715	942	33	4	795	4	RSRC2	12	123001843	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	244257	123001843	10850052	4666	71280											
KNTC1	9735	broad.mit.edu	37	chr12	123075984	123075984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgcccagtggggcattcGtcttggtaaacttggtgtga	14	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:123075984G>A	uc001ucv.2	+	42	4392	c.4229G>A	c.(4228-4230)CGT>CAT	p.R1410H	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1410					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		tGGGGCATTCGTCTTGGTAAA	0.294													A	123075984	G	A	123075984	3	1	104	1	0	0	0	0	1	0	0	0	8428	1145	40	1	4391	1	KNTC1	12	123075984	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	74141	123075984	10775911	4667	71281											
KNTC1	9735	broad.mit.edu	37	chr12	123097759	123097759	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatagaatctctctttaaaaAacccattgaagaagtgaagt	6	6	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:123097759A>C	uc001ucv.2	+	54	5886	c.5723A>C	c.(5722-5724)AAA>ACA	p.K1908T	KNTC1_uc010taf.1_Missense_Mutation_p.K833T	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1908					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTCTTTAAAAAACCCATTGAA	0.343													C	123097759	A	C	123097759	3	2	104	1	0	0	0	0	1	0	0	0	8428	14	1	5	5933	5	KNTC1	12	123097759	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	21775	123097759	10754136	4668	71282											
GPR109A	338442	broad.mit.edu	37	chr12	123186857	123186857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctcgacgctcgtgctgCggttattatctggctcacct	11	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:123186857C>T	uc001ucx.1	-	1	1048	c.974G>A	c.(973-975)CGC>CAC	p.R325H	GPR81_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	G protein-coupled receptor 109A	325	Cytoplasmic (Potential).				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	GCTCGTGCTGCGGTTATTATC	0.557													T	123186857	C	T	123186857	3	4	104	1	0	0	0	0	1	0	0	0	6625	768	27	1	121	1	GPR109A	12	123186857	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	89098	123186857	10665038	4669	71283											
GPR109B	8843	broad.mit.edu	37	chr12	123200148	123200148	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgcaacagcccaactgtttCtccagagatgctggttcttg	9	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:123200148C>A	uc001ucy.3	-	1	1292	c.1137G>T	c.(1135-1137)GAG>GAT	p.E379D	GPR81_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	G protein-coupled receptor 109B	379	Cytoplasmic (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	CCAACTGTTTCTCCAGAGATG	0.498													A	123200148	C	A	123200148	3	1	104	1	0	0	0	0	1	0	0	0	6626	912	32	5	30	5	GPR109B	12	123200148	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	13291	123200148	10651747	4670	71284											
GPR109B	8843	broad.mit.edu	37	chr12	123200311	123200311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctcgacgctcgtgctgCggttattatctggctcacct	11	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:123200311C>T	uc001ucy.3	-	1	1129	c.974G>A	c.(973-975)CGC>CAC	p.R325H	GPR81_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	G protein-coupled receptor 109B	325	Cytoplasmic (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	GCTCGTGCTGCGGTTATTATC	0.552													T	123200311	C	T	123200311	3	4	104	1	0	0	0	0	1	0	0	0	6626	768	27	1	193	1	GPR109B	12	123200311	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	163	123200311	10651584	4671	71285											
HIP1R	9026	broad.mit.edu	37	chr12	123333139	123333139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtcctccacaaggtccttcGagacgggcaccccaatgtga	10	15	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:123333139G>A	uc001udj.1	+	3	343	c.284G>A	c.(283-285)CGA>CAA	p.R95Q	HIP1R_uc001udg.1_Missense_Mutation_p.R83Q|HIP1R_uc001udi.1_Missense_Mutation_p.R95Q|HIP1R_uc001udh.2_Missense_Mutation_p.R95Q	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	95	ENTH.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		AAGGTCCTTCGAGACGGGCAC	0.647													A	123333139	G	A	123333139	3	1	104	1	0	0	0	0	1	0	0	0	7115	1058	37	1	294	1	HIP1R	12	123333139	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	132828	123333139	10518756	4672	71286											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123649915	123649915	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatttttccctcatcaagttCttttaaagctctcatgatcg	4	10	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:123649915C>A	uc001uel.2	-	14	2352	c.2245G>T	c.(2245-2247)GAA>TAA	p.E749*	MPHOSPH9_uc010tal.1_Nonsense_Mutation_p.E203*|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Nonsense_Mutation_p.E203*	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	749					M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TCATCAAGTTCTTTTAAAGCT	0.378													A	123649915	C	A	123649915	4	1	104	1	0	0	0	0	0	1	0	0	9728	922	32	5	878	5	MPHOSPH9	12	123649915	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	316776	123649915	10201980	4673	71287											
RILPL1	353116	broad.mit.edu	37	chr12	123984017	123984017	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtccttggcgcggatcTcgtcgcgttgtttgtccacc	11	15	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:123984017T>G	uc001ufe.2	-	3	763	c.527A>C	c.(526-528)GAG>GCG	p.E176A	RILPL1_uc001ufd.2_Missense_Mutation_p.E25A|RILPL1_uc010tas.1_Missense_Mutation_p.E176A	NM_178314	NP_847884	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	176	Potential.				neuroprotection	cytosol					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		GGCGCGGATCTCGTCGCGTTG	0.617													G	123984017	T	G	123984017	3	3	104	1	0	0	0	0	1	0	0	0	13361	1551	54	5	704	5	RILPL1	12	123984017	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	334102	123984017	9867878	4674	71288											
TMED2	10959	broad.mit.edu	37	chr12	124074954	124074954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgatgacagctgtaaagcacGaacaggaatacatggaagtc	11	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:124074954G>A	uc001ufg.2	+	3	547	c.439G>A	c.(439-441)GAA>AAA	p.E147K		NM_006815	NP_006806	Q15363	TMED2_HUMAN	coated vesicle membrane protein precursor	147	Lumenal (Potential).				protein transport|vesicle-mediated transport	COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane	protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		TGTAAAGCACGAACAGGAATA	0.433													A	124074954	G	A	124074954	3	1	104	1	0	0	0	0	1	0	0	0	16001	1059	37	1	449	1	TMED2	12	124074954	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	90937	124074954	9776941	4675	71289											
DNAH10	196385	broad.mit.edu	37	chr12	124257443	124257443	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtacccctcttcccgaGgagttcctggaccaaaacgt	8	15	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:124257443G>T	uc001uft.3	+	4	301	c.276G>T	c.(274-276)GAG>GAT	p.E92D		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	92	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTCTTCCCGAGGAGTTCCTGG	0.463													T	124257443	G	T	124257443	3	4	104	1	0	0	0	0	1	0	0	0	4598	991	35	5	290	5	DNAH10	12	124257443	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	182489	124257443	9594452	4676	71290											
DNAH10	196385	broad.mit.edu	37	chr12	124323173	124323173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttcttcttcatttctgaCgatgagttgcttagcattct	8	8	5	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:124323173C>T	uc001uft.3	+	28	4744	c.4719C>T	c.(4717-4719)GAC>GAT	p.D1573D		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1573	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCATTTCTGACGATGAGTTGC	0.527													T	124323173	C	T	124323173	2	4	104	1	0	0	0	0	0	0	0	1	4598	535	19	1		1	DNAH10	12	124323173	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	65730	124323173	9528722	4677	71291											
DNAH10	196385	broad.mit.edu	37	chr12	124330340	124330340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatgccgctaagcaaaaacGacaggaaaaaatacaacact	6	11	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:124330340G>A	uc001uft.3	+	30	5225	c.5200G>A	c.(5200-5202)GAC>AAC	p.D1734N		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1734	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGCAAAAACGACAGGAAAAA	0.473													A	124330340	G	A	124330340	3	1	104	1	0	0	0	0	1	0	0	0	4598	1058	37	1	5318	1	DNAH10	12	124330340	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	7167	124330340	9521555	4678	71292											
DNAH10	196385	broad.mit.edu	37	chr12	124333363	124333363	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgaatcgatgcttctgtgctCtccgtgatctcctcccagat	8	14	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:124333363C>A	uc001uft.3	+	33	5707	c.5682C>A	c.(5680-5682)CTC>CTA	p.L1894L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1894	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTTCTGTGCTCTCCGTGATCT	0.542													A	124333363	C	A	124333363	2	1	104	1	0	0	0	0	0	0	0	1	4598	900	32	5		5	DNAH10	12	124333363	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3023	124333363	9518532	4679	71293											
DNAH10	196385	broad.mit.edu	37	chr12	124345647	124345647	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcctggacccaaccacccgaGactggacagatggggtgttg	13	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:124345647G>T	uc001uft.3	+	38	6509	c.6484G>T	c.(6484-6486)GAC>TAC	p.D2162Y		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2162	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AACCACCCGAGACTGGACAGA	0.488													T	124345647	G	T	124345647	3	4	104	1	0	0	0	0	1	0	0	0	4598	942	33	5	6634	5	DNAH10	12	124345647	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	12284	124345647	9506248	4680	71294											
DNAH10	196385	broad.mit.edu	37	chr12	124377783	124377783	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtcttccttttccaggaaTtgtacctgcgcttttttctg	7	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:124377783T>G	uc001uft.3	+	52	8670	c.8645T>G	c.(8644-8646)ATT>AGT	p.I2882S		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2882	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTTCCAGGAATTGTACCTGCG	0.512													G	124377783	T	G	124377783	3	3	104	1	0	0	0	0	1	0	0	0	4598	1493	52	5	8851	5	DNAH10	12	124377783	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	32136	124377783	9474112	4681	71295											
DNAH10	196385	broad.mit.edu	37	chr12	124377848	124377848	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcagattggacaggaagctCtgaagcaaggcatggggccg	16	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:124377848C>T	uc001uft.3	+	52	8735	c.8710C>T	c.(8710-8712)CTG>TTG	p.L2904L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2904	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACAGGAAGCTCTGAAGCAAGG	0.502													T	124377848	C	T	124377848	2	4	104	1	0	0	0	0	0	0	0	1	4598	912	32	4		4	DNAH10	12	124377848	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	65	124377848	9474047	4682	71296											
NCOR2	9612	broad.mit.edu	37	chr12	124870323	124870323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgctgctgcaagatctcatCgaggttctgcctcttcttgt	10	11	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:124870323C>T	uc010tba.1	-	17	2104	c.1987G>A	c.(1987-1989)GAT>AAT	p.D663N	NCOR2_uc010tay.1_Missense_Mutation_p.D663N|NCOR2_uc010taz.1_Missense_Mutation_p.D663N|NCOR2_uc010tbb.1_Missense_Mutation_p.D663N|NCOR2_uc010tbc.1_Missense_Mutation_p.D662N|NCOR2_uc001ugj.1_Missense_Mutation_p.D663N	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	663					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AAGATCTCATCGAGGTTCTGC	0.592													T	124870323	C	T	124870323	3	4	104	1	0	0	0	0	1	0	0	0	10236	884	31	1	5705	1	NCOR2	12	124870323	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	492475	124870323	8981572	4683	71297											
AACS	65985	broad.mit.edu	37	chr12	125613907	125613907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtctggggagagagcggcGagctggtgtgtactaagccg	19	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:125613907G>A	uc001uhc.2	+	14	1656	c.1450G>A	c.(1450-1452)GAG>AAG	p.E484K	AACS_uc001uhd.2_Missense_Mutation_p.E484K|AACS_uc009zyh.2_Intron|AACS_uc009zyi.2_Missense_Mutation_p.E82K	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	484					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		AGAGAGCGGCGAGCTGGTGTG	0.527													A	125613907	G	A	125613907	3	1	104	1	0	0	0	0	1	0	0	0	9	1059	37	1	1504	1	AACS	12	125613907	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	743584	125613907	8237988	4684	71298											
AACS	65985	broad.mit.edu	37	chr12	125626770	125626770	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acatccctgagctgcagggcTtctgagtcagactggctggc	13	12	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:125626770T>G	uc001uhc.2	+	18	2220	c.2014T>G	c.(2014-2016)TTC>GTC	p.F672V	AACS_uc001uhd.2_3'UTR|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_Missense_Mutation_p.F270V	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	672					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GCTGCAGGGCTTCTGAGTCAG	0.527													G	125626770	T	G	125626770	3	3	104	1	0	0	0	0	1	0	0	0	9	1609	56	5	2084	5	AACS	12	125626770	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	12863	125626770	8225125	4685	71299											
FZD10	11211	broad.mit.edu	37	chr12	130648529	130648529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtggggccacgaggccatcGaagccaacagcagctacttc	12	13	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:130648529G>A	uc001uii.2	+	1	1498	c.1042G>A	c.(1042-1044)GAA>AAA	p.E348K	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	348	Cytoplasmic (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CGAGGCCATCGAAGCCAACAG	0.657													A	130648529	G	A	130648529	3	1	104	1	0	0	0	0	1	0	0	0	6129	1059	37	1	1044	1	FZD10	12	130648529	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5021759	130648529	3203366	4686	71300											
STX2	2054	broad.mit.edu	37	chr12	131297517	131297517	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttaccctttaacttggctcGaattttattcgcagttttct	5	10	1	0	rs146831527		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:131297517G>A	uc001uio.2	-	4	432	c.265C>T	c.(265-267)CGA>TGA	p.R89*	STX2_uc001uip.2_Nonsense_Mutation_p.R89*|STX2_uc010tbj.1_Nonsense_Mutation_p.R89*	NM_194356	NP_919337	P32856	STX2_HUMAN	syntaxin 2 isoform 2	89	Potential.|Cytoplasmic (Potential).			R -> A (in Ref. 1; BAA03436).	acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		AACTTGGCTCGAATTTTATTC	0.244													A	131297517	G	A	131297517	4	1	104	1	0	0	0	0	0	1	0	0	15344	1066	37	1	711	1	STX2	12	131297517	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	648988	131297517	2554378	4687	71301											
RAN	5901	broad.mit.edu	37	chr12	131359262	131359262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaatccattgtcttccaccGaaagaagaatcttcaggtgt	8	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:131359262G>A	uc001uir.2	+	5	484	c.419G>A	c.(418-420)CGA>CAA	p.R140Q	RAN_uc010tbk.1_Missense_Mutation_p.R52Q|RAN_uc010tbl.1_Missense_Mutation_p.R52Q|RAN_uc001uis.2_Missense_Mutation_p.R160Q	NM_006325	NP_006316	P62826	RAN_HUMAN	ras-related nuclear protein	140					androgen receptor signaling pathway|cell division|DNA metabolic process|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|RNA export from nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|melanosome|nuclear pore|nucleoplasm	androgen receptor binding|chromatin binding|GTP binding|GTPase activity|transcription coactivator activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		GTCTTCCACCGAAAGAAGAAT	0.378													A	131359262	G	A	131359262	3	1	104	1	0	0	0	0	1	0	0	0	13024	1058	37	1	433	1	RAN	12	131359262	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	61745	131359262	2492633	4688	71302											
PUS1	80324	broad.mit.edu	37	chr12	132416843	132416843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgtccttccagcgctgcGcccggacagacaaggtgggt	13	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:132416843G>A	uc001ujf.2	+	3	906	c.427G>A	c.(427-429)GCC>ACC	p.A143T	PUS1_uc001ujg.2_Missense_Mutation_p.A115T|PUS1_uc001ujh.2_Missense_Mutation_p.A115T|PUS1_uc001uji.2_Missense_Mutation_p.A90T	NM_025215	NP_079491	Q9Y606	TRUA_HUMAN	pseudouridine synthase 1 isoform 1	143						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CCAGCGCTGCGCCCGGACAGA	0.562													A	132416843	G	A	132416843	3	1	104	1	0	0	0	0	1	0	0	0	12830	1087	38	1	437	1	PUS1	12	132416843	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1057581	132416843	1435052	4689	71303											
EP400	57634	broad.mit.edu	37	chr12	132464278	132464278	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctggtagcaggggccggaAgcacagtagagacggacctg	17	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:132464278A>C	uc001ujn.2	+	2	1410	c.1375A>C	c.(1375-1377)AGC>CGC	p.S459R	EP400_uc001ujl.2_Missense_Mutation_p.S458R|EP400_uc001ujm.2_Missense_Mutation_p.S459R|EP400_uc001ujj.1_Missense_Mutation_p.S458R|EP400_uc001ujk.2_Missense_Mutation_p.S495R	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	495					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGGGGCCGGAAGCACAGTAGA	0.557													C	132464278	A	C	132464278	3	2	104	1	0	0	0	0	1	0	0	0	5149	72	3	5	1378	5	EP400	12	132464278	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	47435	132464278	1387617	4690	71304											
EP400	57634	broad.mit.edu	37	chr12	132510285	132510285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctcaggcgggcgctgtGcacggcgccctgggaagcaa	17	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:132510285G>A	uc001ujn.2	+	24	4985	c.4950G>A	c.(4948-4950)GTG>GTA	p.V1650V	EP400_uc001ujl.2_Silent_p.V1649V|EP400_uc001ujm.2_Silent_p.V1569V	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1686					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CGGGCGCTGTGCACGGCGCCC	0.697													A	132510285	G	A	132510285	2	1	104	1	0	0	0	0	0	0	0	1	5149	1306	46	2		2	EP400	12	132510285	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	46007	132510285	1341610	4691	71305											
POLE	5426	broad.mit.edu	37	chr12	133209378	133209378	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggtacacggccacgatgTacgctgtggagaggcacaca	14	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:133209378T>C	uc001uks.1	-	44	6052	c.6008A>G	c.(6007-6009)TAC>TGC	p.Y2003C	POLE_uc001ukq.1_Missense_Mutation_p.Y213C|POLE_uc001ukr.1_Missense_Mutation_p.Y807C|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	2003					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGCCACGATGTACGCTGTGGA	0.637								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					C	133209378	T	C	133209378	3	2	104	1	0	0	0	0	1	0	0	0	12196	1638	57	3	876	3	POLE	12	133209378	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	699093	133209378	642517	4692	71306											
POLE	5426	broad.mit.edu	37	chr12	133250289	133250289	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggtaactgtccctcttcaCccacctggaaggagaatgag	10	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:133250289C>A	uc001uks.1	-	13	1275	c.1231G>T	c.(1231-1233)GTG>TTG	p.V411L	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.V384L	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	411					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCCCTCTTCACCCACCTGGAA	0.557								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	133250289	C	A	133250289	3	1	104	1	0	0	0	0	1	0	0	0	12196	507	18	5	5777	5	POLE	12	133250289	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	40911	133250289	601606	4693	71307											
ANKLE2	23141	broad.mit.edu	37	chr12	133311027	133311027	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttctcctgtttcttgttgaGcctttttgcctatttcctgc	7	11	2	1	rs143880331	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:133311027G>T	uc001ukx.2	-	10	1902	c.1835C>A	c.(1834-1836)GCT>GAT	p.A612D	ANKLE2_uc009zyw.1_5'UTR|ANKLE2_uc001uky.3_Missense_Mutation_p.A550D	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	612						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TTCTTGTTGAGCCTTTTTGCC	0.527													T	133311027	G	T	133311027	3	4	104	1	0	0	0	0	1	0	0	0	633	971	34	5	997	5	ANKLE2	12	133311027	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	60738	133311027	540868	4694	71308											
ZNF268	10795	broad.mit.edu	37	chr12	133764590	133764590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaggcagaagcagaagagtCgcagaatagagaaagtccta	12	8	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr12:133764590C>T	uc010tcf.1	+	3	496	c.166C>T	c.(166-168)CGC>TGC	p.R56C	ZNF268_uc010tbv.1_5'UTR|ZNF268_uc010tbw.1_5'UTR|ZNF268_uc010tbx.1_Intron|ZNF268_uc010tby.1_Intron|ZNF268_uc010tbz.1_5'UTR|ZNF268_uc010tca.1_Intron|ZNF268_uc010tcb.1_5'UTR|ZNF268_uc010tcc.1_Intron|ZNF268_uc010tcd.1_5'UTR|ZNF268_uc010tce.1_Intron|ZNF268_uc010tcg.1_5'UTR|ZNF268_uc010tch.1_Missense_Mutation_p.R56C	NM_003415	NP_003406	Q14587	ZN268_HUMAN	zinc finger protein 268 isoform a	56						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GCAGAAGAGTCGCAGAATAGA	0.488													T	133764590	C	T	133764590	3	4	104	1	0	0	0	0	1	0	0	0	17804	884	31	1	172	1	ZNF268	12	133764590	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	453563	133764590	87305	4695	71309											
TPTE2	93492	broad.mit.edu	37	chr13	20000636	20000636	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacattaattaatattttgtCtgtttcaatgtcatgcaata	4	5	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:20000636C>T	uc001umd.2	-	19	1535	c.1324G>A	c.(1324-1326)GAC>AAC	p.D442N	TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Missense_Mutation_p.D331N|TPTE2_uc001ume.2_Missense_Mutation_p.D365N|TPTE2_uc009zzm.2_Missense_Mutation_p.D113N|TPTE2_uc010tcm.1_RNA|TPTE2_uc010tcl.1_Missense_Mutation_p.D113N	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	442	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AATATTTTGTCTGTTTCAATG	0.343													T	20000636	C	T	20000636	3	4	104	1	0	0	0	0	1	0	0	0	16428	913	32	4	256	4	TPTE2	13	20000636	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08		20000636	95169242	4696	71310											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20240591	20240591	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaagaggaaattcagacatCgtacgactcgtaattgaatg	9	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:20240591C>T	uc001umh.2	+	10	2055	c.2046C>T	c.(2044-2046)ATC>ATT	p.I682I	MPHOSPH8_uc001umg.2_Silent_p.I682I	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	682	ANK 3.				cell cycle	cytoplasm|nucleus					0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ATTCAGACATCGTACGACTCG	0.438													T	20240591	C	T	20240591	2	4	104	1	0	0	0	0	0	0	0	1	9727	874	31	1		1	MPHOSPH8	13	20240591	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	239955	20240591	94929287	4697	71311											
PSPC1	55269	broad.mit.edu	37	chr13	20277378	20277378	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacttcctctaccaaagccAccaggaccaccactcacagg	6	17	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:20277378A>G	uc001uml.2	-	9	1695	c.1509T>C	c.(1507-1509)GGT>GGC	p.G503G	PSPC1_uc001umj.1_Intron|PSPC1_uc001umk.1_Intron	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	paraspeckle protein 1	503	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)	1		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TACCAAAGCCACCAGGACCAC	0.473													G	20277378	A	G	20277378	2	3	104	1	0	0	0	0	0	0	0	1	12716	146	6	3		3	PSPC1	13	20277378	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	36787	20277378	94892500	4698	71312											
PSPC1	55269	broad.mit.edu	37	chr13	20304443	20304443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttcctcctgttctctgtgtCggatcatttcttcctcacgc	7	14	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:20304443C>T	uc001uml.2	-	6	1280	c.1094G>A	c.(1093-1095)CGA>CAA	p.R365Q	PSPC1_uc001umj.1_RNA|PSPC1_uc001umk.1_RNA	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	paraspeckle protein 1	365	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)	1		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTCTCTGTGTCGGATCATTTC	0.393													T	20304443	C	T	20304443	3	4	104	1	0	0	0	0	1	0	0	0	12716	884	31	1	493	1	PSPC1	13	20304443	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	27065	20304443	94865435	4699	71313											
PSPC1	55269	broad.mit.edu	37	chr13	20356882	20356882	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgcgcacttgcttcaggtTtcctcttaacatcatcttac	5	12	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:20356882T>G	uc001uml.2	-	1	202	c.16A>C	c.(16-18)AAC>CAC	p.N6H	PSPC1_uc001umj.1_RNA|PSPC1_uc001umk.1_RNA	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	paraspeckle protein 1	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)	1		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TGCTTCAGGTTTCCTCTTAAC	0.552													G	20356882	T	G	20356882	3	3	104	1	0	0	0	0	1	0	0	0	12716	1841	64	5	1591	5	PSPC1	13	20356882	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	52439	20356882	94812996	4700	71314											
ZMYM2	7750	broad.mit.edu	37	chr13	20567921	20567921	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acggactgcagtcaagtaatTttggtgttaatatacaaaca	8	6	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:20567921T>G	uc001umr.2	+	4	1007	c.709T>G	c.(709-711)TTT>GTT	p.F237V	ZMYM2_uc001umq.2_Intron|ZMYM2_uc001ums.2_Missense_Mutation_p.F237V|ZMYM2_uc001umt.2_Missense_Mutation_p.F237V|ZMYM2_uc009zzn.1_Intron	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GTCAAGTAATTTTGGTGTTAA	0.403													G	20567921	T	G	20567921	3	3	104	1	0	0	0	0	1	0	0	0	17697	1841	64	5	711	5	ZMYM2	13	20567921	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	211039	20567921	94601957	4701	71315											
GJA3	2700	broad.mit.edu	37	chr13	20716951	20716951	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggcgatgaagcccacctcGaacagcgtcttgaagatgat	11	12	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:20716951G>A	uc001umx.1	-	2	649	c.477C>T	c.(475-477)TTC>TTT	p.F159F		NM_021954	NP_068773	Q9Y6H8	CXA3_HUMAN	connexin 46	159	Helical; (Potential).				cell-cell signaling|visual perception	connexon complex|integral to membrane		p.F159F(1)		pancreas(1)	1		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		AGCCCACCTCGAACAGCGTCT	0.652													A	20716951	G	A	20716951	2	1	104	1	0	0	0	0	0	0	0	1	6402	1049	37	1		1	GJA3	13	20716951	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	149030	20716951	94452927	4702	71316											
GJB6	10804	broad.mit.edu	37	chr13	20797280	20797280	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcctctatgtctttgaaatCattcctcttctctcctcgcc	4	15	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:20797280C>A	uc001umz.3	-	3	893	c.340G>T	c.(340-342)GAT>TAT	p.D114Y	GJB6_uc001unc.3_Missense_Mutation_p.D114Y|GJB6_uc001una.3_Missense_Mutation_p.D114Y|GJB6_uc001und.3_Missense_Mutation_p.D114Y|GJB6_uc001unb.3_Missense_Mutation_p.D114Y	NM_006783	NP_006774	O95452	CXB6_HUMAN	gap junction protein, beta 6	114	Cytoplasmic (Potential).				cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				ovary(1)	1		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		TCTTTGAAATCATTCCTCTTC	0.512													A	20797280	C	A	20797280	3	1	104	1	0	0	0	0	1	0	0	0	6412	826	29	5	449	5	GJB6	13	20797280	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	80329	20797280	94372598	4703	71317											
GJB6	10804	broad.mit.edu	37	chr13	20797414	20797414	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggatgtgggacaccgggAaaaagtggtcatagcacaca	14	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:20797414A>G	uc001umz.3	-	3	759	c.206T>C	c.(205-207)TTC>TCC	p.F69S	GJB6_uc001unc.3_Missense_Mutation_p.F69S|GJB6_uc001una.3_Missense_Mutation_p.F69S|GJB6_uc001und.3_Missense_Mutation_p.F69S|GJB6_uc001unb.3_Missense_Mutation_p.F69S	NM_006783	NP_006774	O95452	CXB6_HUMAN	gap junction protein, beta 6	69	Extracellular (Potential).				cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				ovary(1)	1		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		GGACACCGGGAAAAAGTGGTC	0.592													G	20797414	A	G	20797414	3	3	104	1	0	0	0	0	1	0	0	0	6412	246	9	3	583	3	GJB6	13	20797414	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	134	20797414	94372464	4704	71318											
LATS2	26524	broad.mit.edu	37	chr13	21557416	21557416	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaacccagtgcagaggccgAaatctgtgagtttaatgtga	12	7	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:21557416A>G	uc009zzs.2	-	5	2794	c.2429T>C	c.(2428-2430)TTC>TCC	p.F810S	LATS2_uc001unr.3_Missense_Mutation_p.F810S	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	810	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GCAGAGGCCGAAATCTGTGAG	0.443													G	21557416	A	G	21557416	3	3	104	1	0	0	0	0	1	0	0	0	8647	246	9	3	853	3	LATS2	13	21557416	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	760002	21557416	93612462	4705	71319											
SACS	26278	broad.mit.edu	37	chr13	23906234	23906234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctacttttataatgtggCgcatcgtcaaacactaagat	6	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:23906234C>T	uc001uon.2	-	10	12370	c.11781G>A	c.(11779-11781)GCG>GCA	p.A3927A	SACS_uc001uoo.2_Silent_p.A3780A|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3927					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TATAATGTGGCGCATCGTCAA	0.443													T	23906234	C	T	23906234	2	4	104	1	0	0	0	0	0	0	0	1	13804	755	27	1		1	SACS	13	23906234	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2348818	23906234	91263644	4706	71320			1	31		12	12	9431	N	T_G_C_A	9.778135e-06
SACS	26278	broad.mit.edu	37	chr13	23906297	23906297	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggcttgggaggtaaagCgcaaggtctcgtacattctc	12	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:23906297C>T	uc001uon.2	-	10	12307	c.11718G>A	c.(11716-11718)GCG>GCA	p.A3906A	SACS_uc001uoo.2_Silent_p.A3759A|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3906					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGAGGTAAAGCGCAAGGTCTC	0.438													T	23906297	C	T	23906297	2	4	104	1	0	0	0	0	0	0	0	1	13804	755	27	1		1	SACS	13	23906297	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	63	23906297	91263581	4707	71321			1	31		12	12	9431	N	T_G_C_A	9.778135e-06
SACS	26278	broad.mit.edu	37	chr13	23906840	23906840	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaagctgttcttgtggAccaaggtcactaccttcttg	9	10	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:23906840A>G	uc001uon.2	-	10	11764	c.11175T>C	c.(11173-11175)GGT>GGC	p.G3725G	SACS_uc001uoo.2_Silent_p.G3578G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3725					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTTCTTGTGGACCAAGGTCAC	0.388													G	23906840	A	G	23906840	2	3	104	1	0	0	0	0	0	0	0	1	13804	262	10	3		3	SACS	13	23906840	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	543	23906840	91263038	4708	71322			1	31		12	12	9431	N	T_G_C_A	9.778135e-06
SACS	26278	broad.mit.edu	37	chr13	23907108	23907108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccagataacaaatccattCgttcttggaatatatgatgc	6	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:23907108C>T	uc001uon.2	-	10	11496	c.10907G>A	c.(10906-10908)CGA>CAA	p.R3636Q	SACS_uc001uoo.2_Missense_Mutation_p.R3489Q|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3636			R -> Q (in SACS; associated with T-3652).		cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAAATCCATTCGTTCTTGGAA	0.373													T	23907108	C	T	23907108	3	4	104	1	0	0	0	0	1	0	0	0	13804	884	31	1	2836	1	SACS	13	23907108	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	268	23907108	91262770	4709	71323			1	31		12	12	9431	N	T_G_C_A	9.778135e-06
SACS	26278	broad.mit.edu	37	chr13	23907994	23907994	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaaggaacaaatgcactgtCtttggaacagattttgttca	8	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:23907994C>A	uc001uon.2	-	10	10610	c.10021G>T	c.(10021-10023)GAC>TAC	p.D3341Y	SACS_uc001uoo.2_Missense_Mutation_p.D3194Y|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3341					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATGCACTGTCTTTGGAACAG	0.393													A	23907994	C	A	23907994	3	1	104	1	0	0	0	0	1	0	0	0	13804	913	32	5	3722	5	SACS	13	23907994	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	886	23907994	91261884	4710	71324			1	31		12	12	9431	N	T_G_C_A	9.778135e-06
SACS	26278	broad.mit.edu	37	chr13	23908017	23908017	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaacagattttgttcaaaGcaagctgaatacagccagct	9	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:23908017G>T	uc001uon.2	-	10	10587	c.9998C>A	c.(9997-9999)GCT>GAT	p.A3333D	SACS_uc001uoo.2_Missense_Mutation_p.A3186D|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3333					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTTGTTCAAAGCAAGCTGAAT	0.413													T	23908017	G	T	23908017	3	4	104	1	0	0	0	0	1	0	0	0	13804	971	34	5	3745	5	SACS	13	23908017	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	23	23908017	91261861	4711	71325			1	31		12	12	9431	N	T_G_C_A	9.778135e-06
SACS	26278	broad.mit.edu	37	chr13	23909908	23909908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttgccatttctgcattacGaagaggaaatctgaacattg	8	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:23909908G>A	uc001uon.2	-	10	8696	c.8107C>T	c.(8107-8109)CGT>TGT	p.R2703C	SACS_uc001uoo.2_Missense_Mutation_p.R2556C|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2703			R -> C (in SACS).		cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCTGCATTACGAAGAGGAAAT	0.413													A	23909908	G	A	23909908	3	1	104	1	0	0	0	0	1	0	0	0	13804	1058	37	1	5636	1	SACS	13	23909908	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1891	23909908	91259970	4712	71326			1	31		12	12	9431	N	T_G_C_A	9.778135e-06
SACS	26278	broad.mit.edu	37	chr13	23911396	23911396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattgtttgatattttgcagCaaaatcctttgctctaggat	8	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:23911396C>T	uc001uon.2	-	10	7208	c.6619G>A	c.(6619-6621)GCT>ACT	p.A2207T	SACS_uc001uoo.2_Missense_Mutation_p.A2060T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2207					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TATTTTGCAGCAAAATCCTTT	0.368													T	23911396	C	T	23911396	3	4	104	1	0	0	0	0	1	0	0	0	13804	710	25	2	7124	2	SACS	13	23911396	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1488	23911396	91258482	4713	71327			1	31		12	12	9431	N	T_G_C_A	9.778135e-06
SACS	26278	broad.mit.edu	37	chr13	23911438	23911438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttatttttagtttctcatCgataagactcaataagatac	4	8	2	2	rs149278134		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:23911438C>T	uc001uon.2	-	10	7166	c.6577G>A	c.(6577-6579)GAT>AAT	p.D2193N	SACS_uc001uoo.2_Missense_Mutation_p.D2046N|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2193					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGTTTCTCATCGATAAGACTC	0.373													T	23911438	C	T	23911438	3	4	104	1	0	0	0	0	1	0	0	0	13804	884	31	1	7166	1	SACS	13	23911438	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	42	23911438	91258440	4714	71328			1	31		12	12	9431	N	T_G_C_A	9.778135e-06
SACS	26278	broad.mit.edu	37	chr13	23913082	23913082	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgagttctaaaggacagtcGgaaaagggttccattatagc	11	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:23913082G>A	uc001uon.2	-	10	5522	c.4933C>T	c.(4933-4935)CGA>TGA	p.R1645*	SACS_uc001uoo.2_Nonsense_Mutation_p.R1498*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1645					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGGACAGTCGGAAAAGGGTT	0.363													A	23913082	G	A	23913082	4	1	104	1	0	0	0	0	0	1	0	0	13804	1124	39	1	8810	1	SACS	13	23913082	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1644	23913082	91256796	4715	71329			1	31		12	12	9431	N	T_G_C_A	9.778135e-06
SACS	26278	broad.mit.edu	37	chr13	23915457	23915457	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatagatgcatctaattttTtaaggacaaaccctccaagt	6	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:23915457T>G	uc001uon.2	-	10	3147	c.2558A>C	c.(2557-2559)AAA>ACA	p.K853T	SACS_uc001uoo.2_Missense_Mutation_p.K706T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	853					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATCTAATTTTTTAAGGACAAA	0.358													G	23915457	T	G	23915457	3	3	104	1	0	0	0	0	1	0	0	0	13804	1841	64	5	11185	5	SACS	13	23915457	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2375	23915457	91254421	4716	71330			1	31		12	12	9431	N	T_G_C_A	9.778135e-06
SACS	26278	broad.mit.edu	37	chr13	23915664	23915664	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatgtatataaagatttTtccaaaccatcttaagccat	3	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:23915664T>G	uc001uon.2	-	10	2940	c.2351A>C	c.(2350-2352)AAA>ACA	p.K784T	SACS_uc001uoo.2_Missense_Mutation_p.K637T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Missense_Mutation_p.K637T	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	784					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATAAAGATTTTTCCAAACCAT	0.368													G	23915664	T	G	23915664	3	3	104	1	0	0	0	0	1	0	0	0	13804	1841	64	5	11392	5	SACS	13	23915664	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	207	23915664	91254214	4717	71331			1	31		12	12	9431	N	T_G_C_A	9.778135e-06
SACS	26278	broad.mit.edu	37	chr13	23929574	23929574	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccacactgttacacaccaAccaagatgttttctgtgcat	5	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:23929574A>G	uc001uon.2	-	8	1766	c.1177T>C	c.(1177-1179)TTG>CTG	p.L393L	SACS_uc001uoo.2_Silent_p.L246L|SACS_uc001uop.1_Silent_p.L180L|SACS_uc001uoq.1_Silent_p.L246L	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	393					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTACACACCAACCAAGATGTT	0.398													G	23929574	A	G	23929574	2	3	104	1	0	0	0	0	0	0	0	1	13804	40	2	3		3	SACS	13	23929574	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	13910	23929574	91240304	4718	71332											
MIPEP	4285	broad.mit.edu	37	chr13	24415537	24415537	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgctctgcatataatgaaatCcccaacagtctgttaagcaa	6	10	2	1	rs150114409		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:24415537C>A	uc001uox.3	-	11	1297	c.1197G>T	c.(1195-1197)GGG>GGT	p.G399G		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase precursor	399					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		ATAATGAAATCCCCAACAGTC	0.473													A	24415537	C	A	24415537	2	1	104	1	0	0	0	0	0	0	0	1	9592	842	30	5		5	MIPEP	13	24415537	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	485963	24415537	90754341	4719	71333											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24465742	24465742	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtatcataatggttgaattCattatacaggatcttatcaa	6	5	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:24465742C>T	uc010tcw.1	-	3	688	c.688G>A	c.(688-690)GAA>AAA	p.E230K	MIPEP_uc001uox.3_5'Flank|PCOTH_uc001uoy.2_Intron|PCOTH_uc009zzx.2_Intron|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.1_Missense_Mutation_p.E230K	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	230	C1q.					collagen					0						TGGTTGAATTCATTATACAGG	0.428													T	24465742	C	T	24465742	3	4	104	1	0	0	0	0	1	0	0	0	1971	835	29	4	316	4	C1QTNF9B	13	24465742	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	50205	24465742	90704136	4720	71334											
PARP4	143	broad.mit.edu	37	chr13	25008639	25008639	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaagcacaggatactgTcatcttttgtatcacatttt	6	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:25008639T>C	uc001upl.2	-	31	4746	c.4640A>G	c.(4639-4641)GAC>GGC	p.D1547G		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1547					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CAGGATACTGTCATCTTTTGT	0.403													C	25008639	T	C	25008639	3	2	104	1	0	0	0	0	1	0	0	0	11463	1667	58	3	550	3	PARP4	13	25008639	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	542897	25008639	90161239	4721	71335											
PARP4	143	broad.mit.edu	37	chr13	25008671	25008671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacattttatttgtaaaaaGcagctgtcttgaagtacttc	6	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:25008671G>A	uc001upl.2	-	31	4714	c.4608C>T	c.(4606-4608)TGC>TGT	p.C1536C		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1536					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TTTGTAAAAAGCAGCTGTCTT	0.393													A	25008671	G	A	25008671	2	1	104	1	0	0	0	0	0	0	0	1	11463	963	34	2		2	PARP4	13	25008671	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	32	25008671	90161207	4722	71336											
PARP4	143	broad.mit.edu	37	chr13	25067745	25067745	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacttacatcgttgaggcTaatcctgttcactggcttga	8	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:25067745T>G	uc001upl.2	-	8	974	c.868A>C	c.(868-870)AGC>CGC	p.S290R	PARP4_uc010tdc.1_Missense_Mutation_p.S290R	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	290	PARP alpha-helical.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCGTTGAGGCTAATCCTGTTC	0.493													G	25067745	T	G	25067745	3	3	104	1	0	0	0	0	1	0	0	0	11463	1522	53	5	4414	5	PARP4	13	25067745	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	59074	25067745	90102133	4723	71337											
ATP12A	479	broad.mit.edu	37	chr13	25284622	25284622	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtaccagagggaatacctaGaatggacgggctacacggct	14	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:25284622G>A	uc001upp.2	+	20	2975	c.2788G>A	c.(2788-2790)GAA>AAA	p.E930K	ATP12A_uc010aaa.2_Missense_Mutation_p.E936K	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	930	Lumenal (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GGAATACCTAGAATGGACGGG	0.363													A	25284622	G	A	25284622	3	1	104	1	0	0	0	0	1	0	0	0	1122	943	33	4	2884	4	ATP12A	13	25284622	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	216877	25284622	89885256	4724	71338											
RNF17	56163	broad.mit.edu	37	chr13	25353856	25353856	+	Missense_Mutation	SNP	A	A	C													cattgaatacagcacaccatAgtttcgaacagttaagcatt							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:25353856A>C	uc001upr.2	+	5	522	c.481A>C	c.(481-483)AGT>CGT	p.S161R	RNF17_uc010tdd.1_Missense_Mutation_p.S20R|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.S161R|RNF17_uc001ups.2_Missense_Mutation_p.S100R|RNF17_uc001upq.1_Missense_Mutation_p.S161R	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	161					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGCACACCATAGTTTCGAACA	0.353													C	25353856	A	C	25353856	3	2	104	1	0	0	0	0	1	0	0	0	13461	420	15	5	499	5	RNF17	13	25353856	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	69234	25353856	89816022	4725	71339	326	2									
RNF17	56163	broad.mit.edu	37	chr13	25353861	25353861	+	Silent	SNP	C	C	T													aatacagcacaccatagtttCgaacagttaagcattgctgg							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:25353861C>T	uc001upr.2	+	5	527	c.486C>T	c.(484-486)TTC>TTT	p.F162F	RNF17_uc010tdd.1_Silent_p.F21F|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.F162F|RNF17_uc001ups.2_Silent_p.F101F|RNF17_uc001upq.1_Silent_p.F162F	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	162					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACCATAGTTTCGAACAGTTAA	0.348													T	25353861	C	T	25353861	2	4	104	1	0	0	0	0	0	0	0	1	13461	883	31	1		1	RNF17	13	25353861	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5	25353861	89816017	4726	71340	326	2									
RNF17	56163	broad.mit.edu	37	chr13	25406069	25406069	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccaaagaagctaaagaaaAatttgaagaaaaggctcaag	9	5	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:25406069A>C	uc001upr.2	+	18	2476	c.2435A>C	c.(2434-2436)AAA>ACA	p.K812T	RNF17_uc010tdd.1_Missense_Mutation_p.K671T|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.K812T|RNF17_uc001ups.2_Missense_Mutation_p.K751T|RNF17_uc010aac.2_Missense_Mutation_p.K10T	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	812					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GCTAAAGAAAAATTTGAAGAA	0.284													C	25406069	A	C	25406069	3	2	104	1	0	0	0	0	1	0	0	0	13461	14	1	5	2505	5	RNF17	13	25406069	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	52208	25406069	89763809	4727	71341											
RNF17	56163	broad.mit.edu	37	chr13	25444782	25444782	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacacagatgatagtggagTcagcggggaatcagaatccg	14	7	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:25444782T>C	uc001upr.2	+	32	4393	c.4352T>C	c.(4351-4353)GTC>GCC	p.V1451A	RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.V1447A|RNF17_uc001ups.2_Missense_Mutation_p.V1390A|RNF17_uc010aac.2_Missense_Mutation_p.V643A|RNF17_uc010aad.2_Missense_Mutation_p.V461A	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1451					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GATAGTGGAGTCAGCGGGGAA	0.438													C	25444782	T	C	25444782	3	2	104	1	0	0	0	0	1	0	0	0	13461	1667	58	3	4478	3	RNF17	13	25444782	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	38713	25444782	89725096	4728	71342											
MTMR6	9107	broad.mit.edu	37	chr13	25826043	25826043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aactgtaaatctgtgagattCggaactgtagagaggattta	11	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:25826043C>T	uc001uqf.3	-	12	1745	c.1426G>A	c.(1426-1428)GAA>AAA	p.E476K	MTMR6_uc001uqe.1_Missense_Mutation_p.E476K	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	476	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)|skin(2)	4		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		CTGTGAGATTCGGAACTGTAG	0.328													T	25826043	C	T	25826043	3	4	104	1	0	0	0	0	1	0	0	0	9947	893	31	1	451	1	MTMR6	13	25826043	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	381261	25826043	89343835	4729	71343											
ATP8A2	51761	broad.mit.edu	37	chr13	26343251	26343251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgaaggccatcaccctcGccatcggagacggcgccaac	13	15	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:26343251G>A	uc001uqk.2	+	26	2594	c.2452G>A	c.(2452-2454)GCC>ACC	p.A818T	ATP8A2_uc010tdi.1_Missense_Mutation_p.A778T|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.A368T	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	778	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CATCACCCTCGCCATCGGAGA	0.557													A	26343251	G	A	26343251	3	1	104	1	0	0	0	0	1	0	0	0	1193	1087	38	1	2554	1	ATP8A2	13	26343251	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	517208	26343251	88826627	4730	71344											
RNF6	6049	broad.mit.edu	37	chr13	26789090	26789090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgaattggtgaacggcttCgactattggaagtagatcgt	12	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:26789090C>T	uc001uqo.2	-	5	1220	c.929G>A	c.(928-930)CGA>CAA	p.R310Q	RNF6_uc001uqn.1_Intron|RNF6_uc010aak.2_Missense_Mutation_p.R310Q|RNF6_uc001uqp.2_Missense_Mutation_p.R310Q|RNF6_uc001uqq.2_Missense_Mutation_p.R310Q|RNF6_uc010tdk.1_Intron	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	ring finger protein 6	310	Arg-rich.				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TGAACGGCTTCGACTATTGGA	0.418													T	26789090	C	T	26789090	3	4	104	1	0	0	0	0	1	0	0	0	13498	884	31	1	1132	1	RNF6	13	26789090	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	445839	26789090	88380788	4731	71345											
LNX2	222484	broad.mit.edu	37	chr13	28155573	28155573	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcacaacttaaaatgaagtcTtttccggtccaacggacaga	8	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:28155573T>A	uc001url.3	-	2	577	c.268A>T	c.(268-270)AGA>TGA	p.R90*	LNX2_uc001urm.1_Nonsense_Mutation_p.R90*	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	90							zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		AAATGAAGTCTTTTCCGGTCC	0.383													A	28155573	T	A	28155573	4	1	104	1	0	0	0	0	0	1	0	0	8866	1617	56	5	1840	5	LNX2	13	28155573	Nonsense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1366483	28155573	87014305	4732	71346											
FLT1	2321	broad.mit.edu	37	chr13	29001999	29001999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttacgtccttgataattaacGagtagccacgagtcaaatag	8	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:29001999G>A	uc001usb.3	-	9	1451	c.1166C>T	c.(1165-1167)TCG>TTG	p.S389L	FLT1_uc010aar.1_Missense_Mutation_p.S389L|FLT1_uc001usc.3_Missense_Mutation_p.S389L|FLT1_uc010tdp.1_Missense_Mutation_p.S389L	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	389	Ig-like C2-type 4.|Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GATAATTAACGAGTAGCCACG	0.408													A	29001999	G	A	29001999	3	1	104	1	0	0	0	0	1	0	0	0	5941	1059	37	1	3201	1	FLT1	13	29001999	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	846426	29001999	86167879	4733	71347											
FLT1	2321	broad.mit.edu	37	chr13	29041260	29041260	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagaccatttatgggctgcTtcccccctgcaatcacagat	7	13	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:29041260T>G	uc001usb.3	-	3	453	c.168A>C	c.(166-168)GAA>GAC	p.E56D	FLT1_uc010aar.1_Missense_Mutation_p.E56D|FLT1_uc001usc.3_Missense_Mutation_p.E56D|FLT1_uc010tdp.1_Missense_Mutation_p.E56D|FLT1_uc001usd.2_Missense_Mutation_p.E56D	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	56	Ig-like C2-type 1.|Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TATGGGCTGCTTCCCCCCTGC	0.448													G	29041260	T	G	29041260	3	3	104	1	0	0	0	0	1	0	0	0	5941	1606	56	5	4223	5	FLT1	13	29041260	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	39261	29041260	86128618	4734	71348											
MTUS2	23281	broad.mit.edu	37	chr13	29608080	29608080	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccctatgctcattatgaagTccctccaactttctatcggt	5	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:29608080T>C	uc001usl.3	+	2	2352	c.2294T>C	c.(2293-2295)GTC>GCC	p.V765A		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	755	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						CATTATGAAGTCCCTCCAACT	0.448													C	29608080	T	C	29608080	3	2	104	1	0	0	0	0	1	0	0	0	9966	1667	58	3	2300	3	MTUS2	13	29608080	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	566820	29608080	85561798	4735	71349											
MTUS2	23281	broad.mit.edu	37	chr13	30077268	30077268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagtccgattaaactctcGcccacatctcccgtttaccg	5	17	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:30077268G>A	uc001usl.3	+	14	4123	c.4065G>A	c.(4063-4065)TCG>TCA	p.S1355S	MTUS2_uc001usm.3_Silent_p.S324S|MTUS2_uc010aau.2_Silent_p.S234S|MTUS2_uc010tdq.1_Silent_p.S107S	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	1345						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						TTAAACTCTCGCCCACATCTC	0.587													A	30077268	G	A	30077268	2	1	104	1	0	0	0	0	0	0	0	1	9966	1074	38	1		1	MTUS2	13	30077268	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	469188	30077268	85092610	4736	71350											
UBL3	5412	broad.mit.edu	37	chr13	30346289	30346289	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtagaaatcgtccttgataAataagtcgtagaatatttgg	9	4	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:30346289A>C	uc001usp.2	-	3	1328	c.183T>G	c.(181-183)ATT>ATG	p.I61M		NM_007106	NP_009037	O95164	UBL3_HUMAN	ubiquitin-like 3 precursor	61	Ubiquitin-like.					intracellular|plasma membrane					0		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		GTCCTTGATAAATAAGTCGTA	0.388													C	30346289	A	C	30346289	3	2	104	1	0	0	0	0	1	0	0	0	16883	10	1	5	182	5	UBL3	13	30346289	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	269021	30346289	84823589	4737	71351											
KATNAL1	84056	broad.mit.edu	37	chr13	30857759	30857759	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taataccatcttacctgttgCcatttgcctttgatagctgg	7	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:30857759C>T	uc001uss.2	-	2	257	c.156G>A	c.(154-156)TGG>TGA	p.W52*	KATNAL1_uc001ust.2_Nonsense_Mutation_p.W52*	NM_001014380	NP_001014402	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	52						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity				0		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		TTACCTGTTGCCATTTGCCTT	0.388													T	30857759	C	T	30857759	4	4	104	1	0	0	0	0	0	1	0	0	7985	740	26	2	1356	2	KATNAL1	13	30857759	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	511470	30857759	84312119	4738	71352											
C13orf33	84935	broad.mit.edu	37	chr13	31495898	31495898	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtccagaaaagaaggagacGattaagttatttctggaaaa	10	4	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:31495898G>A	uc001uth.3	+	4	1043	c.702G>A	c.(700-702)ACG>ACA	p.T234T	uc001utg.1_Intron	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	hypothetical protein LOC84935	234											0		Lung SC(185;0.0281)		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)		AGAAGGAGACGATTAAGTTAT	0.353													A	31495898	G	A	31495898	2	1	104	1	0	0	0	0	0	0	0	1	1727	1045	37	1		1	C13orf33	13	31495898	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	638139	31495898	83673980	4739	71353											
FRY	10129	broad.mit.edu	37	chr13	32721440	32721440	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaaagatcccaagatggctCgagttgcactggaatctctc	9	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:32721440C>T	uc001utx.2	+	12	1697	c.1201C>T	c.(1201-1203)CGA>TGA	p.R401*	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAAGATGGCTCGAGTTGCACT	0.408													T	32721440	C	T	32721440	4	4	104	1	0	0	0	0	0	1	0	0	6063	876	31	1	1247	1	FRY	13	32721440	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1225542	32721440	82448438	4740	71354											
FRY	10129	broad.mit.edu	37	chr13	32768298	32768298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggttcatcaacttggctgcGaagttgttgtcttgctactg	11	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:32768298G>A	uc001utx.2	+	29	4106	c.3610G>A	c.(3610-3612)GAA>AAA	p.E1204K	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACTTGGCTGCGAAGTTGTTGT	0.378													A	32768298	G	A	32768298	3	1	104	1	0	0	0	0	1	0	0	0	6063	1059	37	1	3724	1	FRY	13	32768298	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	46858	32768298	82401580	4741	71355											
FRY	10129	broad.mit.edu	37	chr13	32776594	32776594	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctgccacccctctacagCgtgtcacttgccctcttgtc	7	19	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:32776594C>T	uc001utx.2	+	31	4444	c.3948C>T	c.(3946-3948)AGC>AGT	p.S1316S	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCCTCTACAGCGTGTCACTTG	0.502													T	32776594	C	T	32776594	2	4	104	1	0	0	0	0	0	0	0	1	6063	767	27	1		1	FRY	13	32776594	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	8296	32776594	82393284	4742	71356											
FRY	10129	broad.mit.edu	37	chr13	32802781	32802781	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaacaagctcattgagtttCtcacgaccaggtaataaggg	9	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:32802781C>T	uc001utx.2	+	40	5891	c.5395C>T	c.(5395-5397)CTC>TTC	p.L1799F	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1799					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CATTGAGTTTCTCACGACCAG	0.493													T	32802781	C	T	32802781	3	4	104	1	0	0	0	0	1	0	0	0	6063	913	32	4	5553	4	FRY	13	32802781	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	26187	32802781	82367097	4743	71357											
FRY	10129	broad.mit.edu	37	chr13	32805401	32805401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagctcactaattttctaCgtcacgttgtatctgtattt	5	9	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:32805401C>T	uc001utx.2	+	41	5987	c.5491C>T	c.(5491-5493)CGT>TGT	p.R1831C	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1831					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TAATTTTCTACGTCACGTTGT	0.373													T	32805401	C	T	32805401	3	4	104	1	0	0	0	0	1	0	0	0	6063	536	19	1	5653	1	FRY	13	32805401	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2620	32805401	82364477	4744	71358											
FRY	10129	broad.mit.edu	37	chr13	32821606	32821606	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttccaaggaattacctggGaaaaccctggacttccactt	8	12	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:32821606G>A	uc001utx.2	+	48	7471	c.6975G>A	c.(6973-6975)GGG>GGA	p.G2325G	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AATTACCTGGGAAAACCCTGG	0.408													A	32821606	G	A	32821606	2	1	104	1	0	0	0	0	0	0	0	1	6063	1161	41	4		4	FRY	13	32821606	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	16205	32821606	82348272	4745	71359											
BRCA2	675	broad.mit.edu	37	chr13	32907018	32907018	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggaaacagtggtaaataagaGagatgaagagcagcatcttg	13	4	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:32907018G>T	uc001uub.1	+	10	1630	c.1403G>T	c.(1402-1404)AGA>ATA	p.R468I	BRCA2_uc001uua.1_Missense_Mutation_p.R345I	NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	468					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTAAATAAGAGAGATGAAGAG	0.388			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			T	32907018	G	T	32907018	3	4	104	1	0	0	0	0	1	0	0	0	1499	942	33	5	1437	5	BRCA2	13	32907018	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	85412	32907018	82262860	4746	71360											
BRCA2	675	broad.mit.edu	37	chr13	32914522	32914522	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagatagtaccaagcaagtCttttccaaagtattgtttaa	7	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:32914522C>A	uc001uub.1	+	11	6257	c.6030C>A	c.(6028-6030)GTC>GTA	p.V2010V		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2010					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CCAAGCAAGTCTTTTCCAAAG	0.353			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			A	32914522	C	A	32914522	2	1	104	1	0	0	0	0	0	0	0	1	1499	900	32	5		5	BRCA2	13	32914522	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7504	32914522	82255356	4747	71361											
BRCA2	675	broad.mit.edu	37	chr13	32929345	32929345	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaaataagattaatgacaAtgagattcatcagtttaaca	5	4	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:32929345A>C	uc001uub.1	+	14	7582	c.7355A>C	c.(7354-7356)AAT>ACT	p.N2452T		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2452	Interaction with FANCD2.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATTAATGACAATGAGATTCAT	0.333			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			C	32929345	A	C	32929345	3	2	104	1	0	0	0	0	1	0	0	0	1499	101	4	5	7405	5	BRCA2	13	32929345	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	14823	32929345	82240533	4748	71362											
N4BP2L2	10443	broad.mit.edu	37	chr13	33017991	33017991	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttaggatctttatttTtccatcttttttctttatat	3	6	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:33017991T>G	uc010abe.1	-	7	705	c.683A>C	c.(682-684)AAA>ACA	p.K228T	N4BP2L2_uc001uug.2_Missense_Mutation_p.K111T|N4BP2L2_uc010abd.1_Missense_Mutation_p.K141T|N4BP2L2_uc001uuh.2_Missense_Mutation_p.K59T|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Missense_Mutation_p.K213T	NM_033111	NP_149102	Q92802	N42L2_HUMAN	phosphonoformate immuno-associated protein 5	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment											0		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATCTTTATTTTTCCATCTTTT	0.333													G	33017991	T	G	33017991	3	3	104	1	0	0	0	0	1	0	0	0	10112	1841	64	5	1587	5	N4BP2L2	13	33017991	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	88646	33017991	82151887	4749	71363											
PDS5B	23047	broad.mit.edu	37	chr13	33275569	33275569	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtgcacatagataccgaatCtatcaggtatttgtatataa	7	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:33275569C>A	uc010abf.2	+	17	2008	c.1850C>A	c.(1849-1851)TCT>TAT	p.S617Y	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	617					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GATACCGAATCTATCAGGTAT	0.388													A	33275569	C	A	33275569	3	1	104	1	0	0	0	0	1	0	0	0	11692	913	32	5	1912	5	PDS5B	13	33275569	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	257578	33275569	81894309	4750	71364											
KL	9365	broad.mit.edu	37	chr13	33590981	33590981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctacaacaacgtcttccgcGacacggaggcgctgcgcgag	13	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:33590981G>A	uc001uus.2	+	1	411	c.403G>A	c.(403-405)GAC>AAC	p.D135N	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	135	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CGTCTTCCGCGACACGGAGGC	0.706													A	33590981	G	A	33590981	3	1	104	1	0	0	0	0	1	0	0	0	8331	1058	37	1	405	1	KL	13	33590981	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	315412	33590981	81578897	4751	71365											
KL	9365	broad.mit.edu	37	chr13	33628183	33628183	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaggaactgctgactttTttgctctttgctttggaccc	8	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:33628183T>G	uc001uus.2	+	2	1107	c.1099T>G	c.(1099-1101)TTT>GTT	p.F367V	KL_uc001uur.1_Missense_Mutation_p.F60V	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	367	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TGCTGACTTTTTTGCTCTTTG	0.428													G	33628183	T	G	33628183	3	3	104	1	0	0	0	0	1	0	0	0	8331	1841	64	5	1105	5	KL	13	33628183	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	37202	33628183	81541695	4752	71366											
STARD13	90627	broad.mit.edu	37	chr13	33701653	33701653	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccggccggggctggtgCgacagctggaaactgttcca	18	11	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:33701653C>T	uc001uuw.2	-	6	1905	c.1779G>A	c.(1777-1779)TCG>TCA	p.S593S	STARD13_uc001uuu.2_Silent_p.S585S|STARD13_uc001uuv.2_Silent_p.S475S|STARD13_uc001uux.2_Silent_p.S558S|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Silent_p.S578S	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	593					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGGGCTGGTGCGACAGCTGGA	0.627													T	33701653	C	T	33701653	2	4	104	1	0	0	0	0	0	0	0	1	15255	755	27	1		1	STARD13	13	33701653	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	73470	33701653	81468225	4753	71367											
NBEA	26960	broad.mit.edu	37	chr13	35692599	35692599	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gataccagcatttgatcaaaGaaatggaataaggtatgatt	9	4	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:35692599G>T	uc001uvb.2	+	17	2437	c.2231G>T	c.(2230-2232)AGA>ATA	p.R744I		NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	744						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTGATCAAAGAAATGGAATA	0.338													T	35692599	G	T	35692599	3	4	104	1	0	0	0	0	1	0	0	0	10187	942	33	5	2293	5	NBEA	13	35692599	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1990946	35692599	79477279	4754	71368											
MAB21L1	4081	broad.mit.edu	37	chr13	36049800	36049800	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctatctcggattctcagtTtcacttcgctggtgtctgcc	8	13	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:36049800T>G	uc001uvc.2	-	1	1033	c.476A>C	c.(475-477)AAA>ACA	p.K159T	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	159					anatomical structure morphogenesis	nucleus				ovary(2)	2		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GATTCTCAGTTTCACTTCGCT	0.562													G	36049800	T	G	36049800	3	3	104	1	0	0	0	0	1	0	0	0	9141	1841	64	5	607	5	MAB21L1	13	36049800	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	357201	36049800	79120078	4755	71369											
NBEA	26960	broad.mit.edu	37	chr13	36180562	36180562	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatttttattcctgataGgaactaattccagagttcta	5	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:36180562G>A	uc001uvb.2	+	48	7503	c.7297_splice	c.e48-1	p.E2433_splice	NBEA_uc010abi.2_Splice_Site_p.E1089_splice|NBEA_uc010tee.1_Splice_Site_p.E226_splice|NBEA_uc010tef.1_Splice_Site_p.E226_splice|NBEA_uc010teg.1_Splice_Site_p.E226_splice|NBEA_uc001uvd.2_Splice_Site	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin							cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATTCCTGATAGGAACTAATTC	0.279													A	36180562	G	A	36180562	5	1	104	1	0	0	0	0	0	0	1	0	10187	1014	35	4	7486	4	NBEA	13	36180562	Splice_Site	SNP	G	TCGA-BR-8680-01A-11D-2394-08	130762	36180562	78989316	4756	71370											
NBEA	26960	broad.mit.edu	37	chr13	36202263	36202263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccaacttcatcagtggatcGaccttatatttggctataag	8	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:36202263G>A	uc001uvb.2	+	49	7701	c.7495G>A	c.(7495-7497)GAC>AAC	p.D2499N	NBEA_uc010abi.2_Missense_Mutation_p.D1155N|NBEA_uc010tee.1_Missense_Mutation_p.D292N|NBEA_uc010tef.1_Missense_Mutation_p.D292N|NBEA_uc010teg.1_Missense_Mutation_p.D292N|NBEA_uc001uvd.2_Missense_Mutation_p.D56N	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2499	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCAGTGGATCGACCTTATATT	0.403													A	36202263	G	A	36202263	3	1	104	1	0	0	0	0	1	0	0	0	10187	1058	37	1	7689	1	NBEA	13	36202263	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	21701	36202263	78967615	4757	71371											
C13orf36	400120	broad.mit.edu	37	chr13	37269387	37269387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttagcgtttctgcttctgCttttaatcattgccctccag	6	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:37269387C>T	uc001uvt.3	+	2	618	c.172C>T	c.(172-174)CTT>TTT	p.L58F		NM_203451	NP_982276	A2A2V5	CM036_HUMAN	hypothetical protein LOC400120	58	Helical; (Potential).					integral to membrane				skin(1)	1						TCTGCTTCTGCTTTTAATCAT	0.483													T	37269387	C	T	37269387	3	4	104	1	0	0	0	0	1	0	0	0	1730	797	28	2	174	2	C13orf36	13	37269387	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1067124	37269387	77900491	4758	71372											
ALG5	29880	broad.mit.edu	37	chr13	37539735	37539735	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttcaacgtgtagagatgaAaacgtccgtgaagctgcttc	11	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:37539735A>C	uc001uvy.2	-	8	817	c.750T>G	c.(748-750)TTT>TTG	p.F250L	ALG5_uc010teq.1_Missense_Mutation_p.F220L|ALG5_uc010ter.1_RNA	NM_013338	NP_037470	Q9Y673	ALG5_HUMAN	dolichyl-phosphate beta-glucosyltransferase	250	Lumenal (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		GTAGAGATGAAAACGTCCGTG	0.448													C	37539735	A	C	37539735	3	2	104	1	0	0	0	0	1	0	0	0	521	11	1	5	236	5	ALG5	13	37539735	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	270348	37539735	77630143	4759	71373											
TRPC4	7223	broad.mit.edu	37	chr13	38211598	38211598	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaatcaaaaaggctgaaattCtttttcttgtccttgctatt	5	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:38211598C>A	uc001uws.2	-	11	2611	c.2376G>T	c.(2374-2376)AAG>AAT	p.K792N	TRPC4_uc010abv.2_Missense_Mutation_p.K372N|TRPC4_uc001uwt.2_Intron|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Missense_Mutation_p.K619N|TRPC4_uc010abx.2_Missense_Mutation_p.K797N|TRPC4_uc010aby.2_Intron	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	792	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGCTGAAATTCTTTTTCTTGT	0.428													A	38211598	C	A	38211598	3	1	104	1	0	0	0	0	1	0	0	0	16577	912	32	5	561	5	TRPC4	13	38211598	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	671863	38211598	76958280	4760	71374											
TRPC4	7223	broad.mit.edu	37	chr13	38213186	38213186	+	Missense_Mutation	SNP	C	C	A													aaaatggttaccttaaagttCtcttcggtcaggccttcttc							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:38213186C>A	uc001uws.2	-	10	2437	c.2202G>T	c.(2200-2202)GAG>GAT	p.E734D	TRPC4_uc010abv.2_Missense_Mutation_p.E314D|TRPC4_uc001uwt.2_Missense_Mutation_p.E734D|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Missense_Mutation_p.E561D|TRPC4_uc010abx.2_Missense_Mutation_p.E739D|TRPC4_uc010aby.2_Missense_Mutation_p.E669D	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	734	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CCTTAAAGTTCTCTTCGGTCA	0.413													A	38213186	C	A	38213186	3	1	104	1	0	0	0	0	1	0	0	0	16577	912	32	5	739	5	TRPC4	13	38213186	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1588	38213186	76956692	4761	71375	327	2									
TRPC4	7223	broad.mit.edu	37	chr13	38213191	38213191	+	Missense_Mutation	SNP	C	C	T													ggttaccttaaagttctcttCggtcaggccttcttcagttt							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:38213191C>T	uc001uws.2	-	10	2432	c.2197G>A	c.(2197-2199)GAA>AAA	p.E733K	TRPC4_uc010abv.2_Missense_Mutation_p.E313K|TRPC4_uc001uwt.2_Missense_Mutation_p.E733K|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Missense_Mutation_p.E560K|TRPC4_uc010abx.2_Missense_Mutation_p.E738K|TRPC4_uc010aby.2_Missense_Mutation_p.E668K	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	733	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AAGTTCTCTTCGGTCAGGCCT	0.403													T	38213191	C	T	38213191	3	4	104	1	0	0	0	0	1	0	0	0	16577	893	31	1	744	1	TRPC4	13	38213191	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5	38213191	76956687	4762	71376	327	2									
FREM2	341640	broad.mit.edu	37	chr13	39262086	39262086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccagcaatgccctggacgCgcggagcctggagttcgcct	14	14	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:39262086C>T	uc001uwv.2	+	1	914	c.605C>T	c.(604-606)GCG>GTG	p.A202V		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	202	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCCCTGGACGCGCGGAGCCTG	0.647													T	39262086	C	T	39262086	3	4	104	1	0	0	0	0	1	0	0	0	6045	768	27	1	607	1	FREM2	13	39262086	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1048895	39262086	75907792	4763	71377											
FREM2	341640	broad.mit.edu	37	chr13	39262102	39262102	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacgcgcggagcctggagttCgccttccagcccgagacaga	14	14	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:39262102C>T	uc001uwv.2	+	1	930	c.621C>T	c.(619-621)TTC>TTT	p.F207F		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	207	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCCTGGAGTTCGCCTTCCAGC	0.652													T	39262102	C	T	39262102	2	4	104	1	0	0	0	0	0	0	0	1	6045	883	31	1		1	FREM2	13	39262102	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	16	39262102	75907776	4764	71378											
FREM2	341640	broad.mit.edu	37	chr13	39265671	39265671	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgggacctaattaaatttgAtgtgactgatggaataaatc	9	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:39265671A>G	uc001uwv.2	+	1	4499	c.4190A>G	c.(4189-4191)GAT>GGT	p.D1397G		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1397	Extracellular (Potential).|CSPG 9.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATTAAATTTGATGTGACTGAT	0.418													G	39265671	A	G	39265671	3	3	104	1	0	0	0	0	1	0	0	0	6045	333	12	3	4192	3	FREM2	13	39265671	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	3569	39265671	75904207	4765	71379											
NHLRC3	387921	broad.mit.edu	37	chr13	39621836	39621836	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgatgggaagtacttgAttgtggcccagctgaatctt	11	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:39621836A>G	uc001uxc.2	+	7	1139	c.817A>G	c.(817-819)ATT>GTT	p.I273V	NHLRC3_uc001uxd.2_Missense_Mutation_p.I206V|NHLRC3_uc001uxe.2_Missense_Mutation_p.I76V	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3 isoform a	273						extracellular region				skin(1)	1		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		GAAGTACTTGATTGTGGCCCA	0.418													G	39621836	A	G	39621836	3	3	104	1	0	0	0	0	1	0	0	0	10407	333	12	3	843	3	NHLRC3	13	39621836	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	356165	39621836	75548042	4766	71380											
LHFP	10186	broad.mit.edu	37	chr13	40175113	40175113	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatggtgcagatcctccattCtgcgctggggatgccctgga	13	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:40175113C>T	uc001uxf.2	-	2	752	c.241G>A	c.(241-243)GAA>AAA	p.E81K		NM_005780	NP_005771	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner precursor	81						integral to membrane	DNA binding		HMGA2/LHFP(2)	soft_tissue(2)|lung(1)|breast(1)	4		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		ATCCTCCATTCTGCGCTGGGG	0.597			T	HMGA2	lipoma								T	40175113	C	T	40175113	3	4	104	1	0	0	0	0	1	0	0	0	8763	922	32	4	373	4	LHFP	13	40175113	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	553277	40175113	74994765	4767	71381											
FOXO1	2308	broad.mit.edu	37	chr13	41134849	41134849	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctcttagcaaatttactgTtgttgtccatggatgcagct	10	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:41134849T>C	uc001uxl.3	-	2	1164	c.779A>G	c.(778-780)AAC>AGC	p.N260S	FOXO1_uc010acc.1_Missense_Mutation_p.N75S	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	forkhead box O1	260					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX3/FOXO1(749)|PAX7/FOXO1(197)	soft_tissue(946)|lung(1)|central_nervous_system(1)	948		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		AAATTTACTGTTGTTGTCCAT	0.517													C	41134849	T	C	41134849	3	2	104	1	0	0	0	0	1	0	0	0	6023	1725	60	3	1192	3	FOXO1	13	41134849	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	959736	41134849	74035029	4768	71382											
FOXO1	2308	broad.mit.edu	37	chr13	41134955	41134955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttccttcattctgcacacGaatgaacttgctgtgtaggg	10	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:41134955G>A	uc001uxl.3	-	2	1058	c.673C>T	c.(673-675)CGT>TGT	p.R225C	FOXO1_uc010acc.1_Missense_Mutation_p.R40C	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	forkhead box O1	225	Fork-head.				anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX3/FOXO1(749)|PAX7/FOXO1(197)	soft_tissue(946)|lung(1)|central_nervous_system(1)	948		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		TTCTGCACACGAATGAACTTG	0.428													A	41134955	G	A	41134955	3	1	104	1	0	0	0	0	1	0	0	0	6023	1058	37	1	1298	1	FOXO1	13	41134955	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	106	41134955	74034923	4769	71383											
KBTBD6	89890	broad.mit.edu	37	chr13	41705387	41705387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccctcacgacacagcaagcGatctgcaagttgctgccaac	9	15	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:41705387G>A	uc001uxu.1	-	1	1550	c.1261C>T	c.(1261-1263)CGC>TGC	p.R421C	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.R355C|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	421	Kelch 1.						protein binding			ovary(1)|skin(1)	2		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CACAGCAAGCGATCTGCAAGT	0.488													A	41705387	G	A	41705387	3	1	104	1	0	0	0	0	1	0	0	0	7997	1058	37	1	767	1	KBTBD6	13	41705387	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	570432	41705387	73464491	4770	71384											
MTRF1	9617	broad.mit.edu	37	chr13	41808045	41808045	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggggatgtggacaagTctgacggcactatcagtttt	13	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:41808045T>G	uc001uxx.2	-	9	1439	c.969A>C	c.(967-969)AGA>AGC	p.R323S	MTRF1_uc001uxy.2_Missense_Mutation_p.R323S|MTRF1_uc001uxz.2_Missense_Mutation_p.R159S|MTRF1_uc010tff.1_Missense_Mutation_p.R336S|MTRF1_uc001uyc.1_Missense_Mutation_p.R323S|uc001uxv.1_Intron	NM_004294	NP_004285	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	323					regulation of translational termination	mitochondrion	translation release factor activity, codon specific				0		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TGTGGACAAGTCTGACGGCAC	0.443													G	41808045	T	G	41808045	3	3	104	1	0	0	0	0	1	0	0	0	9959	1664	58	5	384	5	MTRF1	13	41808045	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	102658	41808045	73361833	4771	71385											
NAA16	79612	broad.mit.edu	37	chr13	41893022	41893022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtttgttcgtaaaggacttCgtaatgatgtcaagagtcat	10	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:41893022C>T	uc001uyf.2	+	3	544	c.220C>T	c.(220-222)CGT>TGT	p.R74C	NAA16_uc010tfg.1_RNA|NAA16_uc001uye.3_Missense_Mutation_p.R74C|NAA16_uc001uyd.3_Missense_Mutation_p.R74C	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	NMDA receptor regulated 1-like protein isoform	74	TPR 1.				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			central_nervous_system(1)	1						TAAAGGACTTCGTAATGATGT	0.289													T	41893022	C	T	41893022	3	4	104	1	0	0	0	0	1	0	0	0	10119	884	31	1	230	1	NAA16	13	41893022	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	84977	41893022	73276856	4772	71386											
NAA16	79612	broad.mit.edu	37	chr13	41932600	41932600	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttattctatatgaaagcaaaAatttacaaggtaaaatctga	5	4	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:41932600A>C	uc001uyf.2	+	11	1572	c.1248A>C	c.(1246-1248)AAA>AAC	p.K416N	NAA16_uc010tfg.1_RNA|NAA16_uc001uye.3_Missense_Mutation_p.K416N|NAA16_uc001uyd.3_3'UTR	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	NMDA receptor regulated 1-like protein isoform	416	TPR 6.				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			central_nervous_system(1)	1						TGAAAGCAAAAATTTACAAGG	0.308													C	41932600	A	C	41932600	3	2	104	1	0	0	0	0	1	0	0	0	10119	11	1	5	1290	5	NAA16	13	41932600	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	39578	41932600	73237278	4773	71387											
KIAA0564	23078	broad.mit.edu	37	chr13	42277525	42277525	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattgtccagtagcccatgaAcgtttgttctggcagagtca	10	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:42277525A>G	uc001uyj.2	-	27	3209	c.3139T>C	c.(3139-3141)TTC>CTC	p.F1047L		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1047						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TAGCCCATGAACGTTTGTTCT	0.373													G	42277525	A	G	42277525	3	3	104	1	0	0	0	0	1	0	0	0	8185	43	2	3	2654	3	KIAA0564	13	42277525	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	344925	42277525	72892353	4774	71388											
KIAA0564	23078	broad.mit.edu	37	chr13	42293761	42293761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacactggtaggctttgctcCgataggtatcccgtatttgt	10	10	0	0	rs148181998		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:42293761C>T	uc001uyj.2	-	26	3152	c.3082G>A	c.(3082-3084)GGA>AGA	p.G1028R	KIAA0564_uc001uyk.2_Missense_Mutation_p.G1028R	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1028						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		GGCTTTGCTCCGATAGGTATC	0.388													T	42293761	C	T	42293761	3	4	104	1	0	0	0	0	1	0	0	0	8185	661	23	1	2719	1	KIAA0564	13	42293761	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	16236	42293761	72876117	4775	71389											
KIAA0564	23078	broad.mit.edu	37	chr13	42460062	42460062	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttattttacttaccaagatTtgaaccgcagctgctaaact	5	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:42460062T>G	uc001uyj.2	-	8	1039	c.969A>C	c.(967-969)CAA>CAC	p.Q323H	KIAA0564_uc001uyk.2_Missense_Mutation_p.Q323H	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	323						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TTACCAAGATTTGAACCGCAG	0.353													G	42460062	T	G	42460062	3	3	104	1	0	0	0	0	1	0	0	0	8185	1838	64	5	4904	5	KIAA0564	13	42460062	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	166301	42460062	72709816	4776	71390											
ENOX1	55068	broad.mit.edu	37	chr13	43896586	43896586	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcatcagacatttccatttCttcttcgcggcggatgccca	7	13	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:43896586C>A	uc001uza.3	-	11	1495	c.1195G>T	c.(1195-1197)GAA>TAA	p.E399*	ENOX1_uc001uzb.3_Nonsense_Mutation_p.E399*|ENOX1_uc001uzc.3_Nonsense_Mutation_p.E399*|ENOX1_uc001uyz.3_Nonsense_Mutation_p.E8*|ENOX1_uc010tfm.1_Nonsense_Mutation_p.E212*	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	399					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		ATTTCCATTTCTTCTTCGCGG	0.473													A	43896586	C	A	43896586	4	1	104	1	0	0	0	0	0	1	0	0	5126	922	32	5	764	5	ENOX1	13	43896586	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1436524	43896586	71273292	4777	71391											
CCDC122	160857	broad.mit.edu	37	chr13	44411430	44411430	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaatgttactcttgcattcCaatgcattttcttaattcgg	6	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:44411430C>A	uc010acf.2	-	7	1067	c.808G>T	c.(808-810)GGA>TGA	p.G270*		NM_144974	NP_659411	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	270											0		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		TCTTGCATTCCAATGCATTTT	0.368													A	44411430	C	A	44411430	4	1	104	1	0	0	0	0	0	1	0	0	2758	603	21	5	17	5	CCDC122	13	44411430	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	514844	44411430	70758448	4778	71392											
TSC22D1	8848	broad.mit.edu	37	chr13	45149181	45149181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actcacaccagcagcactagGaatattgcttgtacttatat	6	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:45149181G>A	uc001uzn.3	-	1	1521	c.1030C>T	c.(1030-1032)CCT>TCT	p.P344S	TSC22D1_uc001uzo.1_Missense_Mutation_p.P344S	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	344					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GCAGCACTAGGAATATTGCTT	0.403													A	45149181	G	A	45149181	3	1	104	1	0	0	0	0	1	0	0	0	16604	1174	41	4	2332	4	TSC22D1	13	45149181	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	737751	45149181	70020697	4779	71393											
KCTD4	386618	broad.mit.edu	37	chr13	45768256	45768256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaatccttgtgaacgatcGtggttatctgttatttccaa	7	8	1	1	rs34555048	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:45768256G>A	uc001uzx.3	-	2	851	c.447C>T	c.(445-447)CAC>CAT	p.H149H	GTF2F2_uc001uzv.2_Intron|GTF2F2_uc001uzw.2_Intron	NM_198404	NP_940686	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerisation domain	149						voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		GTGAACGATCGTGGTTATCTG	0.423													A	45768256	G	A	45768256	2	1	104	1	0	0	0	0	0	0	0	1	8111	1136	40	1		1	KCTD4	13	45768256	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	619075	45768256	69401622	4780	71394											
TPT1	7178	broad.mit.edu	37	chr13	45914178	45914178	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaggcttcttttgtgaaacTtgtttcctgcaggtgatggt	12	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:45914178T>G	uc001uzy.1	-	3	337	c.244A>C	c.(244-246)AGT>CGT	p.S82R	TPT1_uc001uzz.1_Missense_Mutation_p.S48R|SNORA31_uc001vaa.1_5'Flank|TPT1_uc010tfp.1_3'UTR|LOC100190939_uc010tfr.1_5'Flank|LOC100190939_uc001vac.2_5'Flank	NM_003295	NP_003286	P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	82					anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding				0		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		TTTGTGAAACTTGTTTCCTGC	0.443													G	45914178	T	G	45914178	3	3	104	1	0	0	0	0	1	0	0	0	16426	1609	56	5	290	5	TPT1	13	45914178	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	145922	45914178	69255700	4781	71395											
ZC3H13	23091	broad.mit.edu	37	chr13	46559794	46559794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctccgatcccgaccatctCgaggttctctgtcatctctg	7	16	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:46559794C>T	uc010tfw.1	-	9	1364	c.1358G>A	c.(1357-1359)CGA>CAA	p.R453Q	ZC3H13_uc001vas.1_Missense_Mutation_p.R453Q|ZC3H13_uc001vat.1_Missense_Mutation_p.R453Q	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	453	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CCGACCATCTCGAGGTTCTCT	0.493													T	46559794	C	T	46559794	3	4	104	1	0	0	0	0	1	0	0	0	17562	884	31	1	3368	1	ZC3H13	13	46559794	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	645616	46559794	68610084	4782	71396											
ZC3H13	23091	broad.mit.edu	37	chr13	46563119	46563119	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gataagatggtgaaggagttCtttttcgacgaggagaagga	15	3	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:46563119C>A	uc010tfw.1	-	8	1064	c.1058G>T	c.(1057-1059)AGA>ATA	p.R353I	ZC3H13_uc001vas.1_Missense_Mutation_p.R353I|ZC3H13_uc001vat.1_Missense_Mutation_p.R353I	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	353	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TGAAGGAGTTCTTTTTCGACG	0.453													A	46563119	C	A	46563119	3	1	104	1	0	0	0	0	1	0	0	0	17562	913	32	5	3672	5	ZC3H13	13	46563119	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3325	46563119	68606759	4783	71397											
CPB2	1361	broad.mit.edu	37	chr13	46638872	46638872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacggttctttctccacattCgattctacataaacaaaata	3	10	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:46638872C>T	uc001vaw.2	-	8	774	c.707G>A	c.(706-708)CGA>CAA	p.R236Q	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Missense_Mutation_p.R199Q	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a	236					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TCTCCACATTCGATTCTACAT	0.428													T	46638872	C	T	46638872	3	4	104	1	0	0	0	0	1	0	0	0	3797	884	31	1	580	1	CPB2	13	46638872	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	75753	46638872	68531006	4784	71398											
CPB2	1361	broad.mit.edu	37	chr13	46653021	46653021	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgcctctcagttataaattCtatccaagaatagatctagc	5	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:46653021C>A	uc001vaw.2	-	5	467	c.400G>T	c.(400-402)GAA>TAA	p.E134*	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Nonsense_Mutation_p.E134*	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a	134					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GTTATAAATTCTATCCAAGAA	0.398													A	46653021	C	A	46653021	4	1	104	1	0	0	0	0	0	1	0	0	3797	922	32	5	899	5	CPB2	13	46653021	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	14149	46653021	68516857	4785	71399											
LCP1	3936	broad.mit.edu	37	chr13	46733037	46733037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaggttttctgtaatttctCgtactctatacccaggcaaa	6	10	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:46733037C>T	uc001vaz.3	-	3	278	c.152G>A	c.(151-153)CGA>CAA	p.R51Q	LCP1_uc001vba.3_Missense_Mutation_p.R51Q	NM_002298	NP_002289	P13796	PLSL_HUMAN	L-plastin	51	EF-hand 2.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			lung(4)|ovary(3)	7		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGTAATTTCTCGTACTCTATA	0.428			T	BCL6	NHL 								T	46733037	C	T	46733037	3	4	104	1	0	0	0	0	1	0	0	0	8691	884	31	1	1787	1	LCP1	13	46733037	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	80016	46733037	68436841	4786	71400											
LRCH1	23143	broad.mit.edu	37	chr13	47266769	47266769	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgccatcgccttagcccCgttaaaggtctgagaataaa	9	11	1	1	rs139197416	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:47266769C>T	uc001vbj.2	+	8	1349	c.1113C>T	c.(1111-1113)CCC>CCT	p.P371P	LRCH1_uc010acp.2_Silent_p.P371P|LRCH1_uc001vbk.2_Silent_p.P371P|LRCH1_uc001vbl.3_Silent_p.P371P	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH)	371										ovary(1)|central_nervous_system(1)	2		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GCCTTAGCCCCGTTAAAGGTC	0.398													T	47266769	C	T	47266769	2	4	104	1	0	0	0	0	0	0	0	1	8932	639	23	1		1	LRCH1	13	47266769	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	533732	47266769	67903109	4787	71401											
LRCH1	23143	broad.mit.edu	37	chr13	47297460	47297460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagagctggtggaacaacttCgtgaggtacccaagaaatat	11	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:47297460C>T	uc001vbj.2	+	16	1995	c.1759C>T	c.(1759-1761)CGT>TGT	p.R587C	LRCH1_uc001vbk.2_Missense_Mutation_p.R622C|LRCH1_uc001vbl.3_Missense_Mutation_p.R587C	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH)	587	CH.									ovary(1)|central_nervous_system(1)	2		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GGAACAACTTCGTGAGGTACC	0.318													T	47297460	C	T	47297460	3	4	104	1	0	0	0	0	1	0	0	0	8932	884	31	1	1930	1	LRCH1	13	47297460	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	30691	47297460	67872418	4788	71402											
LRCH1	23143	broad.mit.edu	37	chr13	47315828	47315828	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agttggattttcgtcacattCgaaagactgttgacactctg	9	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:47315828C>T	uc001vbj.2	+	19	2268	c.2032C>T	c.(2032-2034)CGA>TGA	p.R678*	LRCH1_uc001vbk.2_Nonsense_Mutation_p.R713*|LRCH1_uc001vbl.3_Intron	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH)	678	CH.									ovary(1)|central_nervous_system(1)	2		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TCGTCACATTCGAAAGACTGT	0.512													T	47315828	C	T	47315828	4	4	104	1	0	0	0	0	0	1	0	0	8932	876	31	1	2215	1	LRCH1	13	47315828	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	18368	47315828	67854050	4789	71403											
NUDT15	55270	broad.mit.edu	37	chr13	48615235	48615235	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaaccaaagaatgtagAgcctgaaaaaaatgaaagta	8	5	1	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:48615235A>C	uc001vbw.1	+	2	518	c.338A>C	c.(337-339)GAG>GCG	p.E113A	NUDT15_uc001vbv.2_Missense_Mutation_p.E113A	NM_018283	NP_060753	Q9NV35	NUD15_HUMAN	nudix-type motif 15	113	Interaction with PCNA.|Nudix hydrolase.						hydrolase activity|metal ion binding				0		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		AAGAATGTAGAGCCTGAAAAA	0.328													C	48615235	A	C	48615235	3	2	104	1	0	0	0	0	1	0	0	0	10731	304	11	5	344	5	NUDT15	13	48615235	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1299407	48615235	66554643	4790	71404											
ITM2B	9445	broad.mit.edu	37	chr13	48830320	48830320	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactctctatagccagatgAcgtgtactactgtggaataa	8	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:48830320A>G	uc001vbz.3	+	3	477	c.254A>G	c.(253-255)GAC>GGC	p.D85G		NM_021999	NP_068839	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	85	Lumenal (Potential).				nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding				0		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		TAGCCAGATGACGTGTACTAC	0.388													G	48830320	A	G	48830320	3	3	104	1	0	0	0	0	1	0	0	0	7913	275	10	3	264	3	ITM2B	13	48830320	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	215085	48830320	66339558	4791	71405											
CYSLTR2	57105	broad.mit.edu	37	chr13	49281629	49281629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgttatctgctgatcattCgggttctgttaaaagtggag	11	6	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:49281629C>T	uc010acx.1	+	6	1359	c.676C>T	c.(676-678)CGG>TGG	p.R226W	CYSLTR2_uc010acy.1_Missense_Mutation_p.R226W|CYSLTR2_uc010acz.1_Missense_Mutation_p.R226W|CYSLTR2_uc010ada.1_Missense_Mutation_p.R226W|CYSLTR2_uc010adb.1_Missense_Mutation_p.R226W|CYSLTR2_uc010adc.1_Missense_Mutation_p.R226W|CYSLTR2_uc010add.1_Missense_Mutation_p.R226W|CYSLTR2_uc010acw.1_Missense_Mutation_p.R226W|CYSLTR2_uc001vck.2_Missense_Mutation_p.R226W	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	226	Cytoplasmic (Potential).				immune response	integral to membrane|plasma membrane				lung(2)	2		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	GCTGATCATTCGGGTTCTGTT	0.478													T	49281629	C	T	49281629	3	4	104	1	0	0	0	0	1	0	0	0	4202	875	31	1	678	1	CYSLTR2	13	49281629	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	451309	49281629	65888249	4792	71406											
FNDC3A	22862	broad.mit.edu	37	chr13	49775978	49775978	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtcatacatacaaagtAcaaagacttaatgagtcaac	5	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:49775978A>G	uc001vcm.2	+	24	3335	c.3030A>G	c.(3028-3030)GTA>GTG	p.V1010V	FNDC3A_uc001vcn.2_Silent_p.V1010V|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Silent_p.V954V	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1010	Fibronectin type-III 8.					Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CATACAAAGTACAAAGACTTA	0.338													G	49775978	A	G	49775978	2	3	104	1	0	0	0	0	0	0	0	1	5969	378	14	3		3	FNDC3A	13	49775978	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	494349	49775978	65393900	4793	71407											
CAB39L	81617	broad.mit.edu	37	chr13	49925041	49925041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtaaggcaatctgtggggCttcatatctaaagcgtaaac	10	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:49925041C>T	uc001vcw.2	-	5	901	c.403G>A	c.(403-405)GCC>ACC	p.A135T	CAB39L_uc001vcx.2_Missense_Mutation_p.A135T|CAB39L_uc010adf.2_Missense_Mutation_p.A132T	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	135					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding				0		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		ATCTGTGGGGCTTCATATCTA	0.338													T	49925041	C	T	49925041	3	4	104	1	0	0	0	0	1	0	0	0	2526	797	28	2	630	2	CAB39L	13	49925041	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	149063	49925041	65244837	4794	71408											
RCBTB1	55213	broad.mit.edu	37	chr13	50123608	50123608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttacccacagacaggaggCgccacgagacggcgggagtg	15	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:50123608C>T	uc001vde.1	-	9	1292	c.1031G>A	c.(1030-1032)CGC>CAC	p.R344H		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and	344	RCC1 6.				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(1)	1		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		AGACAGGAGGCGCCACGAGAC	0.597													T	50123608	C	T	50123608	3	4	104	1	0	0	0	0	1	0	0	0	13171	768	27	1	584	1	RCBTB1	13	50123608	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	198567	50123608	65046270	4795	71409											
TRIM13	10206	broad.mit.edu	37	chr13	50587166	50587166	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctgactaaaacagccgatTtcatagaacaatcagttttt	5	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:50587166T>G	uc001vdq.1	+	3	1403	c.1090T>G	c.(1090-1092)TTC>GTC	p.F364V	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_5'Flank|KCNRG_uc001vdu.2_5'Flank|TRIM13_uc001vdp.1_Missense_Mutation_p.F367V|TRIM13_uc001vdr.1_Missense_Mutation_p.F364V|TRIM13_uc001vds.1_Missense_Mutation_p.F364V	NM_052811	NP_434698	O60858	TRI13_HUMAN	ret finger protein 2 isoform 1	364					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		AACAGCCGATTTCATAGAACA	0.373													G	50587166	T	G	50587166	3	3	104	1	0	0	0	0	1	0	0	0	16485	1841	64	5	1105	5	TRIM13	13	50587166	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	463558	50587166	64582712	4796	71410											
CCDC70	83446	broad.mit.edu	37	chr13	52439685	52439685	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcgcgaagagatgaaaatTtttcgtgaaaaaatagagga	10	3	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:52439685T>G	uc001vfu.3	+	2	467	c.171T>G	c.(169-171)ATT>ATG	p.I57M	uc010tgr.1_RNA	NM_031290	NP_112580	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70 precursor	57						extracellular region|plasma membrane					0		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AGATGAAAATTTTTCGTGAAA	0.502													G	52439685	T	G	52439685	3	3	104	1	0	0	0	0	1	0	0	0	2843	1829	64	5	173	5	CCDC70	13	52439685	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1852519	52439685	62730193	4797	71411											
ATP7B	540	broad.mit.edu	37	chr13	52511798	52511798	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaggcagcacctctgcaaaGactttgttgatgccaaccta	9	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:52511798G>T	uc001vfw.2	-	18	3874	c.3717C>A	c.(3715-3717)GTC>GTA	p.V1239V	ATP7B_uc010adv.2_Silent_p.V809V|ATP7B_uc001vfx.2_Silent_p.V1032V|ATP7B_uc001vfy.2_Silent_p.V1128V|ATP7B_uc010tgt.1_Silent_p.V1174V|ATP7B_uc010tgu.1_Silent_p.V1191V|ATP7B_uc010tgv.1_Silent_p.V1161V|ATP7B_uc001vfv.2_Silent_p.V511V|ATP7B_uc010tgs.1_Silent_p.V450V	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1239	Cytoplasmic (Potential).		V -> G (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CCTCTGCAAAGACTTTGTTGA	0.517									Wilson_disease				T	52511798	G	T	52511798	2	4	104	1	0	0	0	0	0	0	0	1	1191	929	33	5		5	ATP7B	13	52511798	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	72113	52511798	62658080	4798	71412											
ATP7B	540	broad.mit.edu	37	chr13	52518371	52518371	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccagcaggagcacccgcatGaccctggggacgccatgggt	14	15	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:52518371G>T	uc001vfw.2	-	14	3274	c.3117C>A	c.(3115-3117)GTC>GTA	p.V1039V	ATP7B_uc010adv.2_Silent_p.V609V|ATP7B_uc001vfx.2_Silent_p.V832V|ATP7B_uc001vfy.2_Silent_p.V928V|ATP7B_uc010tgt.1_Silent_p.V974V|ATP7B_uc010tgu.1_Silent_p.V991V|ATP7B_uc010tgv.1_Silent_p.V961V|ATP7B_uc001vfv.2_Silent_p.V311V|ATP7B_uc010tgs.1_Intron	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1039	Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GCACCCGCATGACCCTGGGGA	0.577									Wilson_disease				T	52518371	G	T	52518371	2	4	104	1	0	0	0	0	0	0	0	1	1191	1277	45	5		5	ATP7B	13	52518371	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	6573	52518371	62651507	4799	71413											
NEK5	341676	broad.mit.edu	37	chr13	52684696	52684696	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttagtcctagagaaatctgTacaaaccaaccgaggatcta	7	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:52684696T>C	uc001vge.2	-	6	470	c.330A>G	c.(328-330)GTA>GTG	p.V110V	NEK5_uc001vgf.2_Silent_p.V110V	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	110	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)	1		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GAGAAATCTGTACAAACCAAC	0.388													C	52684696	T	C	52684696	2	2	104	1	0	0	0	0	0	0	0	1	10327	1625	57	3		3	NEK5	13	52684696	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	166325	52684696	62485182	4800	71414											
CKAP2	26586	broad.mit.edu	37	chr13	53035861	53035861	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagctttatctagtgtcaaAaccagttcttctcaaggtat	6	9	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:53035861A>C	uc001vgv.2	+	4	1100	c.903A>C	c.(901-903)AAA>AAC	p.K301N	CKAP2_uc001vgt.2_Missense_Mutation_p.K300N|CKAP2_uc001vgu.2_Missense_Mutation_p.K300N|CKAP2_uc010tha.1_Missense_Mutation_p.K252N	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2 isoform 2	301					apoptosis|cell cycle	centrosome|microtubule|spindle pole				ovary(1)|skin(1)	2		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CTAGTGTCAAAACCAGTTCTT	0.363													C	53035861	A	C	53035861	3	2	104	1	0	0	0	0	1	0	0	0	3442	11	1	5	917	5	CKAP2	13	53035861	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	351165	53035861	62134017	4801	71415											
DIAPH3	81624	broad.mit.edu	37	chr13	60565365	60565365	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atatccctctgctctagtttCtttaactgtgctccacacca	4	14	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:60565365C>A	uc001vht.2	-	12	1507	c.1288G>T	c.(1288-1290)GAA>TAA	p.E430*	DIAPH3_uc001vhu.2_Nonsense_Mutation_p.E167*|DIAPH3_uc001vhv.2_Nonsense_Mutation_p.E8*	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	430	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GCTCTAGTTTCTTTAACTGTG	0.303													A	60565365	C	A	60565365	4	1	104	1	0	0	0	0	0	1	0	0	4520	922	32	5	2381	5	DIAPH3	13	60565365	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7529504	60565365	54604513	4802	71416											
DIAPH3	81624	broad.mit.edu	37	chr13	60590074	60590074	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcagggcttttagacaCtgtatgactttatgttgatt	8	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:60590074C>T	uc001vht.2	-	7	963	c.744G>A	c.(742-744)CAG>CAA	p.Q248Q	DIAPH3_uc001vhu.2_5'Flank|DIAPH3_uc001vhw.1_Silent_p.Q237Q|DIAPH3_uc010aed.1_Silent_p.Q202Q|DIAPH3_uc010aee.1_Silent_p.Q178Q|uc001vhx.2_Intron|uc001vhy.2_Intron	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	248	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTTTTAGACACTGTATGACTT	0.313													T	60590074	C	T	60590074	2	4	104	1	0	0	0	0	0	0	0	1	4520	564	20	4		4	DIAPH3	13	60590074	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	24709	60590074	54579804	4803	71417											
TDRD3	81550	broad.mit.edu	37	chr13	61103068	61103068	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattgaaaaacattttaatgTaaatactgattatcagaatc	4	4	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:61103068T>C	uc001via.2	+	11	2218	c.1430T>C	c.(1429-1431)GTA>GCA	p.V477A	TDRD3_uc010aef.2_Missense_Mutation_p.V302A|TDRD3_uc001vhz.3_Missense_Mutation_p.V477A|TDRD3_uc010aeg.2_Missense_Mutation_p.V570A|TDRD3_uc001vib.3_Missense_Mutation_p.V476A	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	477					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CATTTTAATGTAAATACTGAT	0.308													C	61103068	T	C	61103068	3	2	104	1	0	0	0	0	1	0	0	0	15729	1638	57	3	1751	3	TDRD3	13	61103068	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	512994	61103068	54066810	4804	71418											
TDRD3	81550	broad.mit.edu	37	chr13	61103094	61103094	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgattatcagaatccagttCgaagtaatagtttcattggt	8	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:61103094C>T	uc001via.2	+	11	2244	c.1456C>T	c.(1456-1458)CGA>TGA	p.R486*	TDRD3_uc010aef.2_Nonsense_Mutation_p.R311*|TDRD3_uc001vhz.3_Nonsense_Mutation_p.R486*|TDRD3_uc010aeg.2_Nonsense_Mutation_p.R579*|TDRD3_uc001vib.3_Nonsense_Mutation_p.R485*	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	486					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GAATCCAGTTCGAAGTAATAG	0.338													T	61103094	C	T	61103094	4	4	104	1	0	0	0	0	0	1	0	0	15729	876	31	1	1777	1	TDRD3	13	61103094	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	26	61103094	54066784	4805	71419											
PCDH20	64881	broad.mit.edu	37	chr13	61986425	61986425	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacagtgtatctgtacttttCtttctcttctcggtccagct	7	11	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:61986425C>A	uc001vid.3	-	2	2171	c.1807G>T	c.(1807-1809)GAA>TAA	p.E603*	PCDH20_uc010thj.1_Nonsense_Mutation_p.E603*	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	576	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CTGTACTTTTCTTTCTCTTCT	0.443													A	61986425	C	A	61986425	4	1	104	1	0	0	0	0	0	1	0	0	11515	922	32	5	1052	5	PCDH20	13	61986425	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	883331	61986425	53183453	4806	71420											
PCDH9	5101	broad.mit.edu	37	chr13	67800785	67800785	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctccagcatctgcatctgtCactgtgattacccccacagt	6	15	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:67800785C>T	uc001vik.2	-	2	2480	c.1788G>A	c.(1786-1788)GTG>GTA	p.V596V	PCDH9_uc001vil.2_Silent_p.V596V|PCDH9_uc010thl.1_Silent_p.V596V|PCDH9_uc001vin.3_Silent_p.V596V	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	596	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTGCATCTGTCACTGTGATTA	0.373													T	67800785	C	T	67800785	2	4	104	1	0	0	0	0	0	0	0	1	11518	813	29	4		4	PCDH9	13	67800785	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5814360	67800785	47369093	4807	71421											
PCDH9	5101	broad.mit.edu	37	chr13	67802424	67802424	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgtggcagcattgatgtgaGaaatgttcagatcctttggt	12	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:67802424G>T	uc001vik.2	-	2	841	c.149C>A	c.(148-150)TCT>TAT	p.S50Y	PCDH9_uc001vil.2_Missense_Mutation_p.S50Y|PCDH9_uc010thl.1_Missense_Mutation_p.S50Y|PCDH9_uc001vin.3_Missense_Mutation_p.S50Y	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	50	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ATTGATGTGAGAAATGTTCAG	0.473													T	67802424	G	T	67802424	3	4	104	1	0	0	0	0	1	0	0	0	11518	942	33	5	3580	5	PCDH9	13	67802424	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1639	67802424	47367454	4808	71422											
DACH1	1602	broad.mit.edu	37	chr13	72204778	72204778	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catggcttctaatttgatttTtttcaccttcattgcttcag	5	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:72204778T>G	uc010thn.1	-	4	1459	c.1036A>C	c.(1036-1038)AAA>CAA	p.K346Q	DACH1_uc010tho.1_Missense_Mutation_p.K346Q|DACH1_uc010thp.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	346	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AATTTGATTTTTTTCACCTTC	0.269													G	72204778	T	G	72204778	3	3	104	1	0	0	0	0	1	0	0	0	4220	1850	64	5	1120	5	DACH1	13	72204778	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	4402354	72204778	42965100	4809	71423											
DACH1	1602	broad.mit.edu	37	chr13	72440841	72440841	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccagaggaggaagcagAcgtggagattgggggttgag	21	4	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:72440841A>G	uc010thn.1	-	1	490	c.67T>C	c.(67-69)TCT>CCT	p.S23P	DACH1_uc010tho.1_Missense_Mutation_p.S23P|DACH1_uc010thp.1_Missense_Mutation_p.S23P	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	23					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GAGGAAGCAGACGTGGAGATT	0.632													G	72440841	A	G	72440841	3	3	104	1	0	0	0	0	1	0	0	0	4220	275	10	3	2103	3	DACH1	13	72440841	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	236063	72440841	42729037	4810	71424											
DIS3	22894	broad.mit.edu	37	chr13	73347916	73347916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctggtttctatgcgaattCgagggattctcttatcagca	10	8	4	0	rs139907646	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:73347916C>T	uc001vix.3	-	8	1519	c.1145G>A	c.(1144-1146)CGA>CAA	p.R382Q	DIS3_uc001viy.3_Missense_Mutation_p.R352Q|DIS3_uc001viz.2_RNA	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	382					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)	1		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TATGCGAATTCGAGGGATTCT	0.383										Multiple Myeloma(4;0.011)			T	73347916	C	T	73347916	3	4	104	1	0	0	0	0	1	0	0	0	4535	884	31	1	1787	1	DIS3	13	73347916	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	907075	73347916	41821962	4811	71425											
PIBF1	10464	broad.mit.edu	37	chr13	73547748	73547748	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaacttaaataaagaaaagTcagctttactacagacgaag	7	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:73547748T>C	uc001vjc.2	+	16	2289	c.1984T>C	c.(1984-1986)TCA>CCA	p.S662P	PIBF1_uc001vjb.2_Missense_Mutation_p.S662P|PIBF1_uc010aep.2_Missense_Mutation_p.S121P	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	progesterone-induced blocking factor 1	662						centrosome				ovary(1)|breast(1)	2		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TAAAGAAAAGTCAGCTTTACT	0.244													C	73547748	T	C	73547748	3	2	104	1	0	0	0	0	1	0	0	0	11879	1667	58	3	2042	3	PIBF1	13	73547748	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	199832	73547748	41622130	4812	71426											
COMMD6	170622	broad.mit.edu	37	chr13	76104344	76104344	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaacgtaaggatacttaAgagatctgcaagtgtctgag	11	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:76104344A>C	uc001vjo.1	-	3	163	c.113T>G	c.(112-114)CTT>CGT	p.L38R	COMMD6_uc001vjn.1_Missense_Mutation_p.L38R|COMMD6_uc010aet.1_RNA|COMMD6_uc001vjp.1_RNA	NM_203495	NP_987091	Q7Z4G1	COMD6_HUMAN	COMM domain containing 6 isoform b	38	COMM.					cytoplasm|nucleus	protein binding				0		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		AGGATACTTAAGAGATCTGCA	0.388													C	76104344	A	C	76104344	3	2	104	1	0	0	0	0	1	0	0	0	3720	72	3	5	195	5	COMMD6	13	76104344	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2556596	76104344	39065534	4813	71427											
LMO7	4008	broad.mit.edu	37	chr13	76393550	76393550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accttgcaaaatggaaagatCgtcgaaaaagttacacttca	7	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:76393550C>T	uc001vjv.2	+	10	2147	c.1387C>T	c.(1387-1389)CGT>TGT	p.R463C	LMO7_uc010thv.1_Missense_Mutation_p.R414C|LMO7_uc001vjt.1_Missense_Mutation_p.R362C|LMO7_uc010thw.1_Missense_Mutation_p.R313C|LMO7_uc001vjw.1_Missense_Mutation_p.R369C	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	748						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATGGAAAGATCGTCGAAAAAG	0.408													T	76393550	C	T	76393550	3	4	104	1	0	0	0	0	1	0	0	0	8855	884	31	1	2296	1	LMO7	13	76393550	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	289206	76393550	38776328	4814	71428											
MYCBP2	23077	broad.mit.edu	37	chr13	77751940	77751940	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccacctcctccatagacagaGaaaccaaccacaactattcc	3	17	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:77751940G>T	uc001vkf.2	-	36	5260	c.5169C>A	c.(5167-5169)TTC>TTA	p.F1723L	MYCBP2_uc010aev.2_Missense_Mutation_p.F1127L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1723					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CATAGACAGAGAAACCAACCA	0.408													T	77751940	G	T	77751940	3	4	104	1	0	0	0	0	1	0	0	0	10018	933	33	5	8949	5	MYCBP2	13	77751940	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1358390	77751940	37417938	4815	71429											
MYCBP2	23077	broad.mit.edu	37	chr13	77817210	77817210	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacctcttccttcctctaaTctgtgccttctgattacacg	4	14	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:77817210T>G	uc001vkf.2	-	18	2590	c.2499A>C	c.(2497-2499)AGA>AGC	p.R833S	MYCBP2_uc010aev.2_Missense_Mutation_p.R237S	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	833					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTTCCTCTAATCTGTGCCTTC	0.423													G	77817210	T	G	77817210	3	3	104	1	0	0	0	0	1	0	0	0	10018	1432	50	5	11691	5	MYCBP2	13	77817210	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	65270	77817210	37352668	4816	71430											
SCEL	8796	broad.mit.edu	37	chr13	78178498	78178498	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcctttttcaaagaaaaaaaGaccttgatgggcttattaaa	6	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:78178498G>T	uc001vki.2	+	19	1275	c.1105G>T	c.(1105-1107)GAC>TAC	p.D369Y	SCEL_uc001vkj.2_Missense_Mutation_p.D349Y|SCEL_uc010thx.1_Intron	NM_144777	NP_659001	O95171	SCEL_HUMAN	sciellin isoform 1	369	16 X approximate tandem repeats.|7.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			ovary(4)|breast(1)	5		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AAGAAAAAAAGACCTTGATGG	0.313													T	78178498	G	T	78178498	3	4	104	1	0	0	0	0	1	0	0	0	13888	942	33	5	1175	5	SCEL	13	78178498	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	361288	78178498	36991380	4817	71431											
SCEL	8796	broad.mit.edu	37	chr13	78188041	78188041	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttttagcagtgaacaaggtCttgatgaacatattaatgtc	9	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:78188041C>A	uc001vki.2	+	24	1572	c.1402C>A	c.(1402-1404)CTT>ATT	p.L468I	SCEL_uc001vkj.2_Missense_Mutation_p.L448I|SCEL_uc010thx.1_Missense_Mutation_p.L426I	NM_144777	NP_659001	O95171	SCEL_HUMAN	sciellin isoform 1	468	16 X approximate tandem repeats.|12.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			ovary(4)|breast(1)	5		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TGAACAAGGTCTTGATGAACA	0.353													A	78188041	C	A	78188041	3	1	104	1	0	0	0	0	1	0	0	0	13888	913	32	5	1492	5	SCEL	13	78188041	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	9543	78188041	36981837	4818	71432											
EDNRB	1910	broad.mit.edu	37	chr13	78472431	78472431	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttcctccaaggactgTttttcttcaaatgactggca	7	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:78472431T>C	uc001vko.2	-	7	1491	c.1233A>G	c.(1231-1233)AAA>AAG	p.K411K	EDNRB_uc001vkq.1_Silent_p.K411K|uc001vkn.1_Intron|EDNRB_uc010aez.1_Intron|EDNRB_uc001vkp.1_Silent_p.K494K	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	411	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CCAAGGACTGTTTTTCTTCAA	0.393													C	78472431	T	C	78472431	2	2	104	1	0	0	0	0	0	0	0	1	4920	1722	60	3		3	EDNRB	13	78472431	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	284390	78472431	36697447	4819	71433											
SLITRK1	114798	broad.mit.edu	37	chr13	84453915	84453915	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcgtacagctgagggcagatCtcgtcattggagaggagcat	15	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:84453915C>A	uc001vlk.2	-	1	2614	c.1728G>T	c.(1726-1728)GAG>GAT	p.E576D		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	576	LRRCT 2.|Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAGGGCAGATCTCGTCATTGG	0.547													A	84453915	C	A	84453915	3	1	104	1	0	0	0	0	1	0	0	0	14742	912	32	5	366	5	SLITRK1	13	84453915	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5981484	84453915	30715963	4820	71434			2	32	60538251	6	6	1595	N	T_G_C	3.012228e-05
SLITRK1	114798	broad.mit.edu	37	chr13	84453995	84453995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggtcgctcatcagcacttCggaacccaagcgttctgccc	10	15	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:84453995C>T	uc001vlk.2	-	1	2534	c.1648G>A	c.(1648-1650)GAA>AAA	p.E550K		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	550	LRRCT 2.|Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ATCAGCACTTCGGAACCCAAG	0.532													T	84453995	C	T	84453995	3	4	104	1	0	0	0	0	1	0	0	0	14742	893	31	1	446	1	SLITRK1	13	84453995	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	80	84453995	30715883	4821	71435			2	32	60538251	6	6	1595	N	T_G_C	3.012228e-05
SLITRK1	114798	broad.mit.edu	37	chr13	84454115	84454115	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccagcacccctgccaccgGgaggtacatgaagtaattgt	11	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:84454115G>T	uc001vlk.2	-	1	2414	c.1528C>A	c.(1528-1530)CCG>ACG	p.P510T		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	510	Extracellular (Potential).|LRR 12.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCTGCCACCGGGAGGTACATG	0.547													T	84454115	G	T	84454115	3	4	104	1	0	0	0	0	1	0	0	0	14742	1232	43	5	566	5	SLITRK1	13	84454115	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	120	84454115	30715763	4822	71436			2	32	60538251	6	6	1595	N	T_G_C	3.012228e-05
SLITRK1	114798	broad.mit.edu	37	chr13	84454919	84454919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcagtctggtgggggcttCgcagaccactcggccgatca	14	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:84454919C>T	uc001vlk.2	-	1	1610	c.724G>A	c.(724-726)GAA>AAA	p.E242K		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	242	Extracellular (Potential).|LRRCT 1.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTGGGGGCTTCGCAGACCACT	0.547													T	84454919	C	T	84454919	3	4	104	1	0	0	0	0	1	0	0	0	14742	893	31	1	1370	1	SLITRK1	13	84454919	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	804	84454919	30714959	4823	71437			2	32	60538251	6	6	1595	N	T_G_C	3.012228e-05
SLITRK1	114798	broad.mit.edu	37	chr13	84455355	84455355	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaaagcccccggaacgatTtcatgcaagccattgttttc	8	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:84455355T>G	uc001vlk.2	-	1	1174	c.288A>C	c.(286-288)GAA>GAC	p.E96D		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	96	Extracellular (Potential).|LRR 2.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCGGAACGATTTCATGCAAGC	0.453													G	84455355	T	G	84455355	3	3	104	1	0	0	0	0	1	0	0	0	14742	1838	64	5	1806	5	SLITRK1	13	84455355	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	436	84455355	30714523	4824	71438			2	32	60538251	6	6	1595	N	T_G_C	3.012228e-05
SLITRK1	114798	broad.mit.edu	37	chr13	84455509	84455509	+	Frame_Shift_Del	DEL	T	T	-													gctgcagacttgtgaagcccTttttttcacagtctacgtgt							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:84455509delT	uc001vlk.2	-	1	1020	c.134delA	c.(133-135)AAGfs	p.K45fs		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	45	LRRNT.|Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTGAAGCCCTTTTTTTCACA	0.463													-	84455509	T	-	84455509	7	5	104	1	0	1	0	1	0	0	0	0	14742	1609	56	0	1960	0	SLITRK1	13	84455509	Frame_Shift_Del	DEL	T	TCGA-BR-8680-01A-11D-2394-08	154	84455509	30714369	4825	71439			2	32	60538251	6	6	1595	N	T_G_C	3.012228e-05
SLITRK5	26050	broad.mit.edu	37	chr13	88328019	88328019	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acattgagaccggggctttcCatgggctacggggtttgagg	16	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:88328019C>A	uc001vln.2	+	2	595	c.376C>A	c.(376-378)CAT>AAT	p.H126N	SLITRK5_uc010tic.1_Intron	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	126	LRR 2.|Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CGGGGCTTTCCATGGGCTACG	0.448													A	88328019	C	A	88328019	3	1	104	1	0	0	0	0	1	0	0	0	14746	594	21	5	378	5	SLITRK5	13	88328019	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3872510	88328019	26841859	4826	71440											
SLITRK5	26050	broad.mit.edu	37	chr13	88328996	88328996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcgatgatccaggaccgCgctttcggggatctcaccaa	10	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:88328996C>T	uc001vln.2	+	2	1572	c.1353C>T	c.(1351-1353)CGC>CGT	p.R451R	SLITRK5_uc010tic.1_Silent_p.R210R	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	451	Extracellular (Potential).|LRR 8.					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCCAGGACCGCGCTTTCGGGG	0.597													T	88328996	C	T	88328996	2	4	104	1	0	0	0	0	0	0	0	1	14746	755	27	1		1	SLITRK5	13	88328996	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	977	88328996	26840882	4827	71441											
SLITRK5	26050	broad.mit.edu	37	chr13	88329437	88329437	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtaaggcgcccaaaaaattCgctgagaccgacatgcgctc	10	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:88329437C>T	uc001vln.2	+	2	2013	c.1794C>T	c.(1792-1794)TTC>TTT	p.F598F	SLITRK5_uc010tic.1_Silent_p.F357F	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	598	LRRCT 2.|Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCAAAAAATTCGCTGAGACCG	0.547													T	88329437	C	T	88329437	2	4	104	1	0	0	0	0	0	0	0	1	14746	883	31	1		1	SLITRK5	13	88329437	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	441	88329437	26840441	4828	71442											
GPC6	10082	broad.mit.edu	37	chr13	94958302	94958302	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccgctcagctcctgaaaaTtttaatacacgtttcaggcc	7	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:94958302T>G	uc001vlt.2	+	6	1709	c.1077T>G	c.(1075-1077)AAT>AAG	p.N359K	GPC6_uc010tig.1_Missense_Mutation_p.N359K	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	359						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CTCCTGAAAATTTTAATACAC	0.483													G	94958302	T	G	94958302	3	3	104	1	0	0	0	0	1	0	0	0	6602	1490	52	5	1099	5	GPC6	13	94958302	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	6628865	94958302	20211576	4829	71443											
DCT	1638	broad.mit.edu	37	chr13	95114332	95114332	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagagacaggcaatctcgTatgtcttttaaggttggcaa	12	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:95114332T>C	uc001vlv.3	-	5	1402	c.975A>G	c.(973-975)ATA>ATG	p.I325M	DCT_uc010afh.2_Missense_Mutation_p.I325M	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	325	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GGCAATCTCGTATGTCTTTTA	0.468													C	95114332	T	C	95114332	3	2	104	1	0	0	0	0	1	0	0	0	4304	1628	57	3	707	3	DCT	13	95114332	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	156030	95114332	20055546	4830	71444											
ABCC4	10257	broad.mit.edu	37	chr13	95840745	95840745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccgaccacagctaacaattCgccaggtctgacagtaaagg	10	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:95840745C>T	uc001vmd.3	-	10	1434	c.1315G>A	c.(1315-1317)GAA>AAA	p.E439K	ABCC4_uc010afk.2_Missense_Mutation_p.E439K|ABCC4_uc001vme.2_Missense_Mutation_p.E439K|ABCC4_uc010tih.1_Missense_Mutation_p.E364K|ABCC4_uc001vmf.2_Missense_Mutation_p.E396K|ABCC4_uc010afl.1_Missense_Mutation_p.E396K|ABCC4_uc010afm.1_Missense_Mutation_p.E452K	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	439	ABC transporter 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GCTAACAATTCGCCAGGTCTG	0.453													T	95840745	C	T	95840745	3	4	104	1	0	0	0	0	1	0	0	0	55	893	31	1	2799	1	ABCC4	13	95840745	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	726413	95840745	19329133	4831	71445											
CLDN10	9071	broad.mit.edu	37	chr13	96212483	96212483	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaatgaagtgtaccaaagtCggaggctccgataaagccaa	12	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:96212483C>T	uc001vmh.2	+	2	379	c.318C>T	c.(316-318)GTC>GTT	p.V106V	CLDN10_uc001vmg.2_Silent_p.V104V|CLDN10_uc010tii.1_Silent_p.V85V	NM_006984	NP_008915	P78369	CLD10_HUMAN	claudin 10 isoform b	106	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GTACCAAAGTCGGAGGCTCCG	0.423													T	96212483	C	T	96212483	2	4	104	1	0	0	0	0	0	0	0	1	3472	871	31	1		1	CLDN10	13	96212483	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	371738	96212483	18957395	4832	71446											
DZIP1	22873	broad.mit.edu	37	chr13	96293613	96293613	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatcatcttcttccggcgtTtgcactcttccttgagcgtc	8	13	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:96293613T>G	uc001vmk.2	-	5	1385	c.533A>C	c.(532-534)AAA>ACA	p.K178T	DZIP1_uc001vml.2_Missense_Mutation_p.K178T|DZIP1_uc001vmn.2_Missense_Mutation_p.K167T	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	178					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CTTCCGGCGTTTGCACTCTTC	0.582													G	96293613	T	G	96293613	3	3	104	1	0	0	0	0	1	0	0	0	4863	1841	64	5	2146	5	DZIP1	13	96293613	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	81130	96293613	18876265	4833	71447											
RNF113B	140432	broad.mit.edu	37	chr13	98828929	98828929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggctggtaatcccagcGcacagtggcgcgcagatgcc	14	13	1	1	rs114102979	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:98828929G>A	uc001vnk.2	-	1	593	c.562C>T	c.(562-564)CGC>TGC	p.R188C	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	188							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TAATCCCAGCGCACAGTGGCG	0.602													A	98828929	G	A	98828929	3	1	104	1	0	0	0	0	1	0	0	0	13428	1087	38	1	414	1	RNF113B	13	98828929	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2535316	98828929	16340949	4834	71448											
STK24	8428	broad.mit.edu	37	chr13	99115970	99115970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaatcctcggagctcgagtCgtcatggctctgctcggcct	13	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:99115970C>T	uc001vnm.1	-	7	1175	c.940G>A	c.(940-942)GAC>AAC	p.D314N	STK24_uc001vnn.1_Missense_Mutation_p.D302N|STK24_uc010tim.1_Missense_Mutation_p.D283N	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24 isoform a	314					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GAGCTCGAGTCGTCATGGCTC	0.527													T	99115970	C	T	99115970	3	4	104	1	0	0	0	0	1	0	0	0	15292	884	31	1	411	1	STK24	13	99115970	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	287041	99115970	16053908	4835	71449											
SLC15A1	6564	broad.mit.edu	37	chr13	99358407	99358407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgagacattgggccaagtGtcaccatctctccaggaaga	10	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:99358407G>A	uc001vno.2	-	16	1327	c.1250C>T	c.(1249-1251)ACA>ATA	p.T417I		NM_005073	NP_005064	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide	417	Extracellular (Potential).				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			ovary(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TGGGCCAAGTGTCACCATCTC	0.373													A	99358407	G	A	99358407	3	1	104	1	0	0	0	0	1	0	0	0	14398	1377	48	4	908	4	SLC15A1	13	99358407	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	242437	99358407	15811471	4836	71450											
DOCK9	23348	broad.mit.edu	37	chr13	99505740	99505740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggtcaagtttatcacagcGaaccacggaatttcccaatg	8	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:99505740G>A	uc001vnt.2	-	35	3926	c.3871C>T	c.(3871-3873)CGC>TGC	p.R1291C	DOCK9_uc001vnw.2_Missense_Mutation_p.R1290C|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.R1291C|DOCK9_uc010tip.1_5'UTR|DOCK9_uc010tiq.1_Missense_Mutation_p.R269C	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1291					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTATCACAGCGAACCACGGAA	0.373													A	99505740	G	A	99505740	3	1	104	1	0	0	0	0	1	0	0	0	4694	1058	37	1	2422	1	DOCK9	13	99505740	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	147333	99505740	15664138	4837	71451											
DOCK9	23348	broad.mit.edu	37	chr13	99532212	99532212	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcagtacatcaaagaaAaaccatgagtactaaaagaa	6	6	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:99532212A>C	uc001vnt.2	-	27	2941	c.2886T>G	c.(2884-2886)TTT>TTG	p.F962L	DOCK9_uc001vnw.2_Missense_Mutation_p.F961L|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.F962L|DOCK9_uc010tis.1_Missense_Mutation_p.F961L|DOCK9_uc010tit.1_Missense_Mutation_p.F962L|DOCK9_uc010afu.1_Missense_Mutation_p.F808L	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	962					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CATCAAAGAAAAACCATGAGT	0.259													C	99532212	A	C	99532212	3	2	104	1	0	0	0	0	1	0	0	0	4694	11	1	5	3504	5	DOCK9	13	99532212	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	26472	99532212	15637666	4838	71452											
TM9SF2	9375	broad.mit.edu	37	chr13	100191723	100191723	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaacatacccatatagataAaccagactgctcagggcccc	6	14	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:100191723A>C	uc001voj.1	+	7	873	c.740A>C	c.(739-741)AAA>ACA	p.K247T	TM9SF2_uc010afz.1_Intron	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2 precursor	247	Lumenal (Potential).				transport	endosome membrane|integral to plasma membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CATATAGATAAACCAGACTGC	0.398													C	100191723	A	C	100191723	3	2	104	1	0	0	0	0	1	0	0	0	15975	14	1	5	766	5	TM9SF2	13	100191723	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	659511	100191723	14978155	4839	71453											
TM9SF2	9375	broad.mit.edu	37	chr13	100201466	100201466	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgttttattaacatcatttCtttgtcctgggtaagtgaat	7	5	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:100201466C>A	uc001voj.1	+	12	1451	c.1318C>A	c.(1318-1320)CTT>ATT	p.L440I	TM9SF2_uc010afz.1_Missense_Mutation_p.L275I	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2 precursor	440	Helical; (Potential).				transport	endosome membrane|integral to plasma membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					AACATCATTTCTTTGTCCTGG	0.318													A	100201466	C	A	100201466	3	1	104	1	0	0	0	0	1	0	0	0	15975	913	32	5	1364	5	TM9SF2	13	100201466	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	9743	100201466	14968412	4840	71454											
NALCN	259232	broad.mit.edu	37	chr13	101712261	101712261	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgggttcagaaaccggctcAgctcttgctgctgactctct	11	13	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:101712261A>C	uc001vox.1	-	42	5003	c.4814T>G	c.(4813-4815)CTG>CGG	p.L1605R		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1605	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAACCGGCTCAGCTCTTGCTG	0.527													C	101712261	A	C	101712261	3	2	104	1	0	0	0	0	1	0	0	0	10148	188	7	5	414	5	NALCN	13	101712261	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1510795	101712261	13457617	4841	71455											
NALCN	259232	broad.mit.edu	37	chr13	101735209	101735209	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgacattgttgccaaaggtAcggtcaccgggtcctcgacg	12	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:101735209A>G	uc001vox.1	-	33	3905	c.3716T>C	c.(3715-3717)GTA>GCA	p.V1239A		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1239	Helical; Name=S2 of repeat IV; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGCCAAAGGTACGGTCACCGG	0.517													G	101735209	A	G	101735209	3	3	104	1	0	0	0	0	1	0	0	0	10148	391	14	3	1548	3	NALCN	13	101735209	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	22948	101735209	13434669	4842	71456											
NALCN	259232	broad.mit.edu	37	chr13	101742314	101742314	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaattaaagttccgaggattCgccctgcgattccaatacag	8	10	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:101742314C>T	uc001vox.1	-	29	3462	c.3273G>A	c.(3271-3273)GCG>GCA	p.A1091A		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1091	Extracellular (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCGAGGATTCGCCCTGCGAT	0.448													T	101742314	C	T	101742314	2	4	104	1	0	0	0	0	0	0	0	1	10148	871	31	1		1	NALCN	13	101742314	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7105	101742314	13427564	4843	71457											
NALCN	259232	broad.mit.edu	37	chr13	101755555	101755555	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttgaagccgctgaaaagttCtcgaacaactttcctcatct	6	12	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:101755555C>A	uc001vox.1	-	26	3214	c.3025G>T	c.(3025-3027)GAA>TAA	p.E1009*		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1009	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGAAAAGTTCTCGAACAACT	0.453													A	101755555	C	A	101755555	4	1	104	1	0	0	0	0	0	1	0	0	10148	922	32	5	2267	5	NALCN	13	101755555	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	13241	101755555	13414323	4844	71458											
NALCN	259232	broad.mit.edu	37	chr13	101797193	101797193	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaatttttcaaagattcGcaggcgtaaagggagctttt	11	5	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:101797193G>A	uc001vox.1	-	16	2083	c.1894C>T	c.(1894-1896)CGA>TGA	p.R632*	NALCN_uc001voy.2_Nonsense_Mutation_p.R347*	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	632	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCAAAGATTCGCAGGCGTAAA	0.353													A	101797193	G	A	101797193	4	1	104	1	0	0	0	0	0	1	0	0	10148	1095	38	1	3438	1	NALCN	13	101797193	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	41638	101797193	13372685	4845	71459											
ITGBL1	9358	broad.mit.edu	37	chr13	102105271	102105271	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgttcctcaaagcttctcGccatctctgaggtaagtttg	9	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:102105271G>A	uc001vpb.2	+	1	306	c.87G>A	c.(85-87)TCG>TCA	p.S29S	ITGBL1_uc010agb.2_Silent_p.S29S|ITGBL1_uc001vpc.3_5'UTR	NM_004791	NP_004782	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat	29					cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			ovary(1)|skin(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAGCTTCTCGCCATCTCTGA	0.547													A	102105271	G	A	102105271	2	1	104	1	0	0	0	0	0	0	0	1	7902	1074	38	1		1	ITGBL1	13	102105271	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	308078	102105271	13064607	4846	71460											
ITGBL1	9358	broad.mit.edu	37	chr13	102359183	102359183	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgccaacatccgcggaagTgtaacatgacggaagaacaa	10	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:102359183T>G	uc001vpb.2	+	9	1429	c.1210T>G	c.(1210-1212)TGT>GGT	p.C404G	ITGBL1_uc010agb.2_Missense_Mutation_p.C355G|ITGBL1_uc001vpc.3_Missense_Mutation_p.C263G	NM_004791	NP_004782	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat	404	VIII.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			ovary(1)|skin(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCGCGGAAGTGTAACATGAC	0.517													G	102359183	T	G	102359183	3	3	104	1	0	0	0	0	1	0	0	0	7902	1696	59	5	1244	5	ITGBL1	13	102359183	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	253912	102359183	12810695	4847	71461											
TPP2	7174	broad.mit.edu	37	chr13	103295587	103295587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttagaagtgacagtgtgttCgtgttcttctgaggtgtcag	13	5	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:103295587C>T	uc001vpi.3	+	17	2139	c.2036C>T	c.(2035-2037)TCG>TTG	p.S679L		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	679					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACAGTGTGTTCGTGTTCTTCT	0.363													T	103295587	C	T	103295587	3	4	104	1	0	0	0	0	1	0	0	0	16409	893	31	1	2102	1	TPP2	13	103295587	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	936404	103295587	11874291	4848	71462											
ERCC5	2073	broad.mit.edu	37	chr13	103459815	103459815	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actcatacacgggaaaaaatTtatgccatctgttcggacta	7	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:103459815T>G	uc001vpu.1	+	1	320	c.198T>G	c.(196-198)ATT>ATG	p.I66M	BIVM_uc001vps.2_Missense_Mutation_p.I66M|BIVM_uc010agc.2_Intron|BIVM_uc001vpt.2_Missense_Mutation_p.I66M	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	Error:Variant_position_missing_in_P28715_after_alignment					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGGAAAAAATTTATGCCATCT	0.468			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				G	103459815	T	G	103459815	3	3	104	1	0	0	0	0	1	0	0	0	5216	1829	64	5		5	ERCC5	13	103459815	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	164228	103459815	11710063	4849	71463											
ERCC5	2073	broad.mit.edu	37	chr13	103506186	103506186	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttctgaaaacatttttgaAaagacaagccatcaaaactg	6	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:103506186A>G	uc001vpw.2	+	3	787	c.344A>G	c.(343-345)AAA>AGA	p.K115R	ERCC5_uc001vpu.1_Missense_Mutation_p.K569R|ERCC5_uc010tjb.1_Missense_Mutation_p.K115R|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Intron	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	115					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACATTTTTGAAAAGACAAGCC	0.373			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				G	103506186	A	G	103506186	3	3	104	1	0	0	0	0	1	0	0	0	5216	14	1	3	354	3	ERCC5	13	103506186	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	46371	103506186	11663692	4850	71464											
ERCC5	2073	broad.mit.edu	37	chr13	103508441	103508441	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaagaatggcaagaaagaatGaatcaaaaacaagcattaca	7	5	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:103508441G>A	uc001vpw.2	+	5	950	c.507G>A	c.(505-507)ATG>ATA	p.M169I	ERCC5_uc001vpu.1_Missense_Mutation_p.M623I|ERCC5_uc010tjb.1_Missense_Mutation_p.M169I|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.M1I	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	169					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAGAAAGAATGAATCAAAAAC	0.279			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				A	103508441	G	A	103508441	3	1	104	1	0	0	0	0	1	0	0	0	5216	1290	45	4	525	4	ERCC5	13	103508441	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2255	103508441	11661437	4851	71465											
ERCC5	2073	broad.mit.edu	37	chr13	103513933	103513933	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaccagcatatagaacatgTccaaaaggaaatgaatcagc	8	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:103513933T>C	uc001vpw.2	+	7	1192	c.749T>C	c.(748-750)GTC>GCC	p.V250A	ERCC5_uc001vpu.1_Missense_Mutation_p.V704A|ERCC5_uc010tjb.1_Missense_Mutation_p.V250A|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.V82A	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	250					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATAGAACATGTCCAAAAGGAA	0.408			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				C	103513933	T	C	103513933	3	2	104	1	0	0	0	0	1	0	0	0	5216	1667	58	3	775	3	ERCC5	13	103513933	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	5492	103513933	11655945	4852	71466											
ERCC5	2073	broad.mit.edu	37	chr13	103524621	103524621	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acaccaaagtgaaaaaaaaaTtacggacattgcaactcacc	5	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:103524621T>A	uc001vpw.2	+	13	3195	c.2752T>A	c.(2752-2754)TTA>ATA	p.L918I	ERCC5_uc001vpu.1_Missense_Mutation_p.L1372I|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.L750I	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	918					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GAAAAAAAAATTACGGACATT	0.438			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				A	103524621	T	A	103524621	3	1	104	1	0	0	0	0	1	0	0	0	5216	1490	52	5	2802	5	ERCC5	13	103524621	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	10688	103524621	11645257	4853	71467											
DAOA	267012	broad.mit.edu	37	chr13	106124904	106124904	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcaaaggagacagaagaaGgaagagagacggtaacaagg	15	5	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:106124904G>T	uc001vqb.2	+	3	425	c.151G>T	c.(151-153)GGA>TGA	p.G51*	DAOA_uc010tjf.1_Translation_Start_Site|DAOA_uc001vpz.2_RNA|DAOA_uc010agd.2_RNA|DAOA_uc010tjg.1_Translation_Start_Site|DAOA_uc001vqc.2_RNA|DAOA_uc001vqe.2_RNA	NM_172370	NP_758958	P59103	DAOA_HUMAN	D-amino acid oxidase activator isoform 1	51						Golgi apparatus					0	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GACAGAAGAAGGAAGAGAGAC	0.383													T	106124904	G	T	106124904	4	4	104	1	0	0	0	0	0	1	0	0	4232	1001	35	5	161	5	DAOA	13	106124904	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2600283	106124904	9044974	4854	71468											
ARGLU1	55082	broad.mit.edu	37	chr13	107196385	107196385	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggacagttttggcctggActtccccttgcccaggataa	11	11	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:107196385A>G	uc001vqk.3	-	4	1028	c.781T>C	c.(781-783)TCC>CCC	p.S261P		NM_018011	NP_060481	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	261											0	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TTTGGCCTGGACTTCCCCTTG	0.284													G	107196385	A	G	107196385	3	3	104	1	0	0	0	0	1	0	0	0	860	275	10	3	44	3	ARGLU1	13	107196385	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1071481	107196385	7973493	4855	71469											
FAM155A	728215	broad.mit.edu	37	chr13	107863091	107863091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atactgggaacagagccaggCtttgtagacaatctgaaaaa	10	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:107863091C>T	uc001vql.2	-	2	1444	c.928G>A	c.(928-930)GCC>ACC	p.A310T		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	310						integral to membrane	binding			skin(1)	1						CAGAGCCAGGCTTTGTAGACA	0.428											OREG0022506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	107863091	C	T	107863091	3	4	104	1	0	0	0	0	1	0	0	0	5465	797	28	2	456	2	FAM155A	13	107863091	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	666706	107863091	7306787	4856	71470											
TNFSF13B	10673	broad.mit.edu	37	chr13	108955863	108955863	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagaggaagaaggtccatgTctttggggatgaattgagtc	14	5	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:108955863T>C	uc001vqr.2	+	5	923	c.656T>C	c.(655-657)GTC>GCC	p.V219A	TNFSF13B_uc010agj.2_Missense_Mutation_p.V200A	NM_006573	NP_006564	Q9Y275	TN13B_HUMAN	tumor necrosis factor superfamily, member 13b	219	Extracellular (Potential).				cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding				0	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			AAGGTCCATGTCTTTGGGGAT	0.373													C	108955863	T	C	108955863	3	2	104	1	0	0	0	0	1	0	0	0	16303	1667	58	3	674	3	TNFSF13B	13	108955863	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1092772	108955863	6214015	4857	71471											
MYO16	23026	broad.mit.edu	37	chr13	109753197	109753197	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtcagctgccgagcgatgtCgacttgttctccagcagtgt	12	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:109753197C>T	uc001vqt.1	+	28	3460	c.3334C>T	c.(3334-3336)CGA>TGA	p.R1112*	MYO16_uc010agk.1_Nonsense_Mutation_p.R1134*|MYO16_uc010tjh.1_Nonsense_Mutation_p.R624*	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1112	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CGAGCGATGTCGACTTGTTCT	0.438													T	109753197	C	T	109753197	4	4	104	1	0	0	0	0	0	1	0	0	10064	876	31	1	3440	1	MYO16	13	109753197	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	797334	109753197	5416681	4858	71472											
COL4A1	1282	broad.mit.edu	37	chr13	110831355	110831355	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcctggagaccccacggaGcctggcaatccaggaggtcc	12	15	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:110831355G>A	uc001vqw.3	-	31	2495	c.2373C>T	c.(2371-2373)GGC>GGT	p.G791G	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	791	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			ACCCCACGGAGCCTGGCAATC	0.607													A	110831355	G	A	110831355	2	1	104	1	0	0	0	0	0	0	0	1	3689	958	34	2		2	COL4A1	13	110831355	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1078158	110831355	4338523	4859	71473											
CARS2	79587	broad.mit.edu	37	chr13	111335429	111335429	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actggaccagggaccacgccGaccaatttgccatacttgtc	9	14	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:111335429G>A	uc001vrd.2	-	6	664	c.624C>T	c.(622-624)GTC>GTT	p.V208V	CARS2_uc010tjm.1_RNA	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial	208				LVGVVPGPVGEPADSDK -> IGRRGPWSSPETSGLLTS (in Ref. 4; BAB93499).	cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding				0	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GGACCACGCCGACCAATTTGC	0.527													A	111335429	G	A	111335429	2	1	104	1	0	0	0	0	0	0	0	1	2658	1045	37	1		1	CARS2	13	111335429	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	504074	111335429	3834449	4860	71474											
CARS2	79587	broad.mit.edu	37	chr13	111340140	111340140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aattatctgaggaatattttCggttaccctcaggtacaccg	8	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:111340140C>T	uc001vrd.2	-	5	539	c.499G>A	c.(499-501)GAA>AAA	p.E167K	CARS2_uc010tjm.1_RNA	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial	167					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding				0	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GGAATATTTTCGGTTACCCTC	0.453													T	111340140	C	T	111340140	3	4	104	1	0	0	0	0	1	0	0	0	2658	893	31	1	1239	1	CARS2	13	111340140	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4711	111340140	3829738	4861	71475											
ING1	3621	broad.mit.edu	37	chr13	111372025	111372025	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccaaggccaaggcggagCgagaggcgtcccctgccgac	15	15	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:111372025C>T	uc001vri.2	+	2	1447	c.1015C>T	c.(1015-1017)CGA>TGA	p.R339*	ING1_uc001vrf.2_Nonsense_Mutation_p.R152*|ING1_uc001vrg.2_Nonsense_Mutation_p.R127*|ING1_uc001vrh.2_Nonsense_Mutation_p.R196*	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1 isoform D	339					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			ovary(1)	1	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CAAGGCGGAGCGAGAGGCGTC	0.627													T	111372025	C	T	111372025	4	4	104	1	0	0	0	0	0	1	0	0	7735	760	27	1	1169	1	ING1	13	111372025	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	31885	111372025	3797853	4862	71476											
ANKRD10	55608	broad.mit.edu	37	chr13	111532320	111532320	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggggctaatccactgctAattccgttagttcctgtcaa	8	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:111532320A>G	uc001vrn.2	-	6	1062	c.927T>C	c.(925-927)ATT>ATC	p.I309I	ANKRD10_uc001vrm.2_Silent_p.I46I|ANKRD10_uc001vrl.2_RNA	NM_017664	NP_060134	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	309										central_nervous_system(1)	1	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			ATCCACTGCTAATTCCGTTAG	0.542													G	111532320	A	G	111532320	2	3	104	1	0	0	0	0	0	0	0	1	638	358	13	3		3	ANKRD10	13	111532320	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	160295	111532320	3637558	4863	71477											
ANKRD10	55608	broad.mit.edu	37	chr13	111532435	111532435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atccatttgtcaatgtattcGatacggagctactgtttttc	7	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:111532435G>A	uc001vrn.2	-	6	947	c.812C>T	c.(811-813)TCG>TTG	p.S271L	ANKRD10_uc001vrm.2_Missense_Mutation_p.S8L|ANKRD10_uc001vrl.2_RNA	NM_017664	NP_060134	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	271										central_nervous_system(1)	1	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			CAATGTATTCGATACGGAGCT	0.443													A	111532435	G	A	111532435	3	1	104	1	0	0	0	0	1	0	0	0	638	1059	37	1	454	1	ANKRD10	13	111532435	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	115	111532435	3637443	4864	71478											
ARHGEF7	8874	broad.mit.edu	37	chr13	111935539	111935539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgcagacagcaagcccgcGccgctgacgcccgcctacca	10	20	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:111935539G>A	uc001vrs.2	+	17	2092	c.1842G>A	c.(1840-1842)GCG>GCA	p.A614A	ARHGEF7_uc001vrr.2_Silent_p.A593A|ARHGEF7_uc001vrt.2_Silent_p.A564A|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Silent_p.A436A|ARHGEF7_uc001vrv.3_Silent_p.A436A|ARHGEF7_uc001vrw.3_Silent_p.A436A|ARHGEF7_uc001vrx.3_Silent_p.A436A|ARHGEF7_uc010tjo.1_Silent_p.A511A|ARHGEF7_uc010tjp.1_Silent_p.A358A|ARHGEF7_uc001vry.1_Silent_p.A30A|uc001vrz.1_5'Flank	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	614					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCAAGCCCGCGCCGCTGACGC	0.682													A	111935539	G	A	111935539	2	1	104	1	0	0	0	0	0	0	0	1	911	1074	38	1		1	ARHGEF7	13	111935539	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	403104	111935539	3234339	4865	71479											
TUBGCP3	10426	broad.mit.edu	37	chr13	113170831	113170831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgtattccatccgcttcGccctccagaggaagttaaat	9	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:113170831G>A	uc001vse.1	-	17	2196	c.2009C>T	c.(2008-2010)GCG>GTG	p.A670V	TUBGCP3_uc010tjq.1_Missense_Mutation_p.A660V|TUBGCP3_uc001vsf.2_Missense_Mutation_p.A670V	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	670					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CATCCGCTTCGCCCTCCAGAG	0.493													A	113170831	G	A	113170831	3	1	104	1	0	0	0	0	1	0	0	0	16764	1087	38	1	738	1	TUBGCP3	13	113170831	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1235292	113170831	1999047	4866	71480											
ATP11A	23250	broad.mit.edu	37	chr13	113512583	113512583	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacattaggatctctgagctCgtgcagtacttcttctataa	7	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:113512583C>T	uc001vsi.3	+	22	2734	c.2646C>T	c.(2644-2646)CTC>CTT	p.L882L	ATP11A_uc001vsj.3_Silent_p.L882L|ATP11A_uc001vsm.1_Silent_p.L758L|ATP11A_uc010ago.2_RNA	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	882	Helical; (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TCTCTGAGCTCGTGCAGTACT	0.507													T	113512583	C	T	113512583	2	4	104	1	0	0	0	0	0	0	0	1	1119	871	31	1		1	ATP11A	13	113512583	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	341752	113512583	1657295	4867	71481											
ATP11A	23250	broad.mit.edu	37	chr13	113527971	113527971	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctacgttgtcttttcgcttCtctggggaggagtgatctgg	13	8	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:113527971C>A	uc001vsi.3	+	27	3230	c.3142C>A	c.(3142-3144)CTC>ATC	p.L1048I	ATP11A_uc001vsj.3_Missense_Mutation_p.L1048I|ATP11A_uc010ago.2_RNA	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	1048	Helical; (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CTTTTCGCTTCTCTGGGGAGG	0.383											OREG0003854	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	113527971	C	A	113527971	3	1	104	1	0	0	0	0	1	0	0	0	1119	913	32	5	3248	5	ATP11A	13	113527971	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	15388	113527971	1641907	4868	71482											
F7	2155	broad.mit.edu	37	chr13	113772894	113772894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtgcccctctgcctgcccGaacggacgttctctgagagg	13	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:113772894G>A	uc001vsv.2	+	9	1024	c.973G>A	c.(973-975)GAA>AAA	p.E325K	F7_uc001vsw.2_Missense_Mutation_p.E303K|F7_uc010tjt.1_Missense_Mutation_p.E256K	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	325	Peptidase S1.		E -> K (in FA7D).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CTGCCTGCCCGAACGGACGTT	0.677													A	113772894	G	A	113772894	3	1	104	1	0	0	0	0	1	0	0	0	5349	1059	37	1	1007	1	F7	13	113772894	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	244923	113772894	1396984	4869	71483											
FAM70B	348013	broad.mit.edu	37	chr13	114469097	114469097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctccccacagaagggctttCgaggaggaagaagacgtcgc	13	12	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:114469097C>T	uc001vuh.2	+	2	83	c.56C>T	c.(55-57)TCG>TTG	p.S19L	FAM70B_uc010tkh.1_Missense_Mutation_p.S19L	NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	19						integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			GAAGGGCTTTCGAGGAGGAAG	0.637													T	114469097	C	T	114469097	3	4	104	1	0	0	0	0	1	0	0	0	5606	893	31	1	62	1	FAM70B	13	114469097	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	696203	114469097	700781	4870	71484											
CDC16	8881	broad.mit.edu	37	chr13	115030682	115030682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caatgcttggtcattgcatcGaaatgtacattggtgattct	9	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:115030682G>A	uc001vuk.1	+	17	1768	c.1570G>A	c.(1570-1572)GAA>AAA	p.E524K	CDC16_uc001vul.1_Missense_Mutation_p.E524K|CDC16_uc001vum.1_Missense_Mutation_p.E430K|CDC16_uc001vun.1_Missense_Mutation_p.E523K|CDC16_uc001vuo.1_Missense_Mutation_p.E472K	NM_003903	NP_003894	Q13042	CDC16_HUMAN	anaphase-promoting complex, subunit 6	524					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding				0	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			TCATTGCATCGAAATGTACAT	0.333													A	115030682	G	A	115030682	3	1	104	1	0	0	0	0	1	0	0	0	3058	1059	37	1	1636	1	CDC16	13	115030682	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	561585	115030682	139196	4871	71485											
UPF3A	65110	broad.mit.edu	37	chr13	115070354	115070354	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatctgcaaggcagaaggtTcggggactggtcctgagaag	17	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr13:115070354T>G	uc001vup.2	+	10	1430	c.1393T>G	c.(1393-1395)TCG>GCG	p.S465A	UPF3A_uc001vuq.2_Missense_Mutation_p.S432A|UPF3A_uc001vus.2_RNA|UPF3A_uc001vur.2_RNA|UPF3A_uc001vut.2_Missense_Mutation_p.S264A|UPF3A_uc001vuu.2_Silent_p.V118V	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A	465					mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			skin(1)	1	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GGCAGAAGGTTCGGGGACTGG	0.597													G	115070354	T	G	115070354	3	3	104	1	0	0	0	0	1	0	0	0	17002	1783	62	5	1431	5	UPF3A	13	115070354	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	39672	115070354	99524	4872	71486											
OR4Q3	441669	broad.mit.edu	37	chr14	20215602	20215602	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcttgatgaaaaaagaacaaGattctaatgtgacagaattt	8	4	1	6			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:20215602G>T	uc010tkt.1	+	1	16	c.16G>T	c.(16-18)GAT>TAT	p.D6Y		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	6	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAAAGAACAAGATTCTAATGT	0.318													T	20215602	G	T	20215602	3	4	104	1	0	0	0	0	1	0	0	0	11081	942	33	5	18	5	OR4Q3	14	20215602	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08		20215602	87133938	4873	71487											
OR4K2	390431	broad.mit.edu	37	chr14	20344641	20344641	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctttcaatcattgatatgtCtcttgcttctttcgccaccc	4	13	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:20344641C>T	uc001vwh.1	+	1	215	c.215C>T	c.(214-216)TCT>TTT	p.S72F		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTGATATGTCTCTTGCTTCT	0.423													T	20344641	C	T	20344641	3	4	104	1	0	0	0	0	1	0	0	0	11072	913	32	4	217	4	OR4K2	14	20344641	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	129039	20344641	87004899	4874	71488											
OR4K5	79317	broad.mit.edu	37	chr14	20388847	20388847	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaactccagcttttctatTtttgtttcttctctgtgttg	5	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:20388847T>C	uc010tkw.1	+	1	82	c.82T>C	c.(82-84)TTT>CTT	p.F28L		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	28	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTTTTCTATTTTTGTTTCTT	0.408													C	20388847	T	C	20388847	3	2	104	1	0	0	0	0	1	0	0	0	11073	1841	64	3	84	3	OR4K5	14	20388847	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	44206	20388847	86960693	4875	71489											
OR4K1	79544	broad.mit.edu	37	chr14	20403995	20403995	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttgactcccatttgaactCtcctatgtacttcttgctca	4	12	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:20403995C>T	uc001vwj.1	+	1	170	c.170C>T	c.(169-171)TCT>TTT	p.S57F		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	57	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CATTTGAACTCTCCTATGTAC	0.363													T	20403995	C	T	20403995	3	4	104	1	0	0	0	0	1	0	0	0	11067	913	32	4	172	4	OR4K1	14	20403995	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	15148	20403995	86945545	4876	71490											
OR4K15	81127	broad.mit.edu	37	chr14	20444053	20444053	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgcctgcctggcccagattTtctttgttcatctcttcact	6	13	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:20444053T>A	uc010tkx.1	+	1	376	c.376T>A	c.(376-378)TTC>ATC	p.F126I		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	126	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F126Y(1)		ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCCCAGATTTTCTTTGTTCA	0.438													A	20444053	T	A	20444053	3	1	104	1	0	0	0	0	1	0	0	0	11070	1841	64	5	378	5	OR4K15	14	20444053	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	40058	20444053	86905487	4877	71491											
OR4K17	390436	broad.mit.edu	37	chr14	20586157	20586157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccatttgctgtgaacttgCccttttgtggtcccaatgtg	9	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:20586157C>T	uc001vwo.1	+	1	592	c.592C>T	c.(592-594)CCC>TCC	p.P198S		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K,	170	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TGTGAACTTGCCCTTTTGTGG	0.428													T	20586157	C	T	20586157	3	4	104	1	0	0	0	0	1	0	0	0	11071	739	26	2	594	2	OR4K17	14	20586157	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	142104	20586157	86763383	4878	71492											
OR11H6	122748	broad.mit.edu	37	chr14	20692668	20692668	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcccacctaatggtggtgtCtctattctatggaaccctta	8	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:20692668C>T	uc010tlc.1	+	1	800	c.800C>T	c.(799-801)TCT>TTT	p.S267F		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H,	267	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		ATGGTGGTGTCTCTATTCTAT	0.478													T	20692668	C	T	20692668	3	4	104	1	0	0	0	0	1	0	0	0	10929	913	32	4	802	4	OR11H6	14	20692668	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	106511	20692668	86656872	4879	71493											
TTC5	91875	broad.mit.edu	37	chr14	20767028	20767028	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagagaagtaaagggaaagAtatgaattcccaagaatatc	10	4	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:20767028A>G	uc001vwt.2	-	5	624	c.567T>C	c.(565-567)TAT>TAC	p.Y189Y	TTC5_uc001vwu.2_Silent_p.Y46Y	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	189	TPR 3.				DNA repair	cytoplasm|nucleus	binding			ovary(1)	1	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		AAAGGGAAAGATATGAATTCC	0.408													G	20767028	A	G	20767028	2	3	104	1	0	0	0	0	0	0	0	1	16708	340	12	3		3	TTC5	14	20767028	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	74360	20767028	86582512	4880	71494											
PARP2	10038	broad.mit.edu	37	chr14	20825671	20825671	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctcccagttctgcccacttCgtcaccctgtaagtactcag	7	16	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:20825671C>T	uc001vxc.2	+	15	1612	c.1584C>T	c.(1582-1584)TTC>TTT	p.F528F	PARP2_uc001vxd.2_Silent_p.F515F|PARP2_uc001vxb.1_Silent_p.F528F	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase family, member 2	528	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			ovary(1)|pancreas(1)	2	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		CTGCCCACTTCGTCACCCTGT	0.488								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					T	20825671	C	T	20825671	2	4	104	1	0	0	0	0	0	0	0	1	11461	883	31	1		1	PARP2	14	20825671	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	58643	20825671	86523869	4881	71495											
TEP1	7011	broad.mit.edu	37	chr14	20848099	20848099	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attgtcatacctgccaagttCtcaggtccaacaggtaaact	7	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:20848099C>A	uc001vxe.2	-	35	5157	c.5117G>T	c.(5116-5118)AGA>ATA	p.R1706I	TEP1_uc010ahk.2_Missense_Mutation_p.R1049I|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.R1598I|TEP1_uc010tlh.1_Missense_Mutation_p.R44I	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1706	WD 2.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTGCCAAGTTCTCAGGTCCAA	0.522													A	20848099	C	A	20848099	3	1	104	1	0	0	0	0	1	0	0	0	15756	913	32	5	2850	5	TEP1	14	20848099	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	22428	20848099	86501441	4882	71496											
TEP1	7011	broad.mit.edu	37	chr14	20854649	20854649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgacgccccagcggaggtCgattccgtgaaggctgatac	14	11	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:20854649C>T	uc001vxe.2	-	19	2858	c.2818G>A	c.(2818-2820)GAC>AAC	p.D940N	TEP1_uc010ahk.2_Missense_Mutation_p.D290N|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.D832N	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	940					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGCGGAGGTCGATTCCGTGA	0.652													T	20854649	C	T	20854649	3	4	104	1	0	0	0	0	1	0	0	0	15756	884	31	1	5213	1	TEP1	14	20854649	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	6550	20854649	86494891	4883	71497											
RNASE4	6038	broad.mit.edu	37	chr14	21167907	21167907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagatatcgggccatagCgagcactagacgtgttgtca	12	10	1	2	rs143629764	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:21167907C>T	uc001vxy.3	+	2	940	c.377C>T	c.(376-378)GCG>GTG	p.A126V	RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Missense_Mutation_p.A126V	NM_002937	NP_002928	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4 precursor	126					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)	1	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		CGGGCCATAGCGAGCACTAGA	0.532													T	21167907	C	T	21167907	3	4	104	1	0	0	0	0	1	0	0	0	13406	768	27	1	379	1	RNASE4	14	21167907	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	313258	21167907	86181633	4884	71498											
EDDM3A	10876	broad.mit.edu	37	chr14	21216071	21216071	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcactgggagaagtacaAcaataggtacacagagagca	12	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:21216071A>G	uc001vyb.2	+	2	399	c.332A>G	c.(331-333)AAC>AGC	p.N111S	EDDM3A_uc001vyc.2_Missense_Mutation_p.N111S	NM_006683	NP_006674	Q14507	EP3A_HUMAN	human epididymis-specific 3 alpha precursor	111					sperm displacement	extracellular space					0						GAGAAGTACAACAATAGGTAC	0.453													G	21216071	A	G	21216071	3	3	104	1	0	0	0	0	1	0	0	0	4909	43	2	3	334	3	EDDM3A	14	21216071	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	48164	21216071	86133469	4885	71499											
METT11D1	64745	broad.mit.edu	37	chr14	21458737	21458737	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acgggctaggcatcttgagaAaaaattcctggaaaacccag	10	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:21458737A>C	uc001vyn.2	+	3	541	c.344A>C	c.(343-345)AAA>ACA	p.K115T	METT11D1_uc010tlk.1_Missense_Mutation_p.K115T|METT11D1_uc001vym.2_Missense_Mutation_p.K115T|METT11D1_uc001vyo.2_Missense_Mutation_p.K115T|METT11D1_uc001vyp.2_5'UTR|METT11D1_uc001vyq.2_5'UTR	NM_022734	NP_073571	Q9H7H0	MET17_HUMAN	methyltransferase 11 domain containing 1 isoform	115					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity				0	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CATCTTGAGAAAAAATTCCTG	0.403											OREG0022561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	21458737	A	C	21458737	3	2	104	1	0	0	0	0	1	0	0	0	9491	14	1	5	354	5	METT11D1	14	21458737	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	242666	21458737	85890803	4886	71500											
RNASE7	84659	broad.mit.edu	37	chr14	21511513	21511513	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagcatccgaactgcaggtAcaaagagaagcgacagaaca	11	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:21511513A>T	uc001vzk.3	+	2	619	c.362A>T	c.(361-363)TAC>TTC	p.Y121F	NDRG2_uc010tll.1_Intron|RNASE7_uc001vzl.2_RNA	NM_032572	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7 precursor	121					defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			ovary(1)	1	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AACTGCAGGTACAAAGAGAAG	0.522													T	21511513	A	T	21511513	3	4	104	1	0	0	0	0	1	0	0	0	13408	391	14	5	364	5	RNASE7	14	21511513	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	52776	21511513	85838027	4887	71501											
FLJ10357	55701	broad.mit.edu	37	chr14	21541393	21541393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcttgccaaggtccagcagGaagcctgtgtgagtggccgt	15	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:21541393G>A	uc001vzp.2	+	2	222	c.193G>A	c.(193-195)GAA>AAA	p.E65K	NDRG2_uc010tll.1_5'Flank|FLJ10357_uc001vzn.1_Missense_Mutation_p.E65K|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_5'UTR	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	65					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		GGTCCAGCAGGAAGCCTGTGT	0.572													A	21541393	G	A	21541393	3	1	104	1	0	0	0	0	1	0	0	0	5926	1175	41	4	199	4	FLJ10357	14	21541393	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	29880	21541393	85808147	4888	71502											
RPGRIP1	57096	broad.mit.edu	37	chr14	21756217	21756217	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctggtgctaccagcctcaAaaggtaacttctacgcctga	8	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:21756217A>G	uc001wag.2	+	1	82	c.82A>G	c.(82-84)AAA>GAA	p.K28E		NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	28					response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		ACCAGCCTCAAAAGGTAACTT	0.458													G	21756217	A	G	21756217	3	3	104	1	0	0	0	0	1	0	0	0	13549	15	1	3	84	3	RPGRIP1	14	21756217	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	214824	21756217	85593323	4889	71503											
RPGRIP1	57096	broad.mit.edu	37	chr14	21792917	21792917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaactgcacatccaccagGccttcctgacatctgccgcc	7	17	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:21792917G>A	uc001wag.2	+	14	1903	c.1903G>A	c.(1903-1905)GCC>ACC	p.A635T	RPGRIP1_uc001wah.2_Missense_Mutation_p.A277T|RPGRIP1_uc001wai.2_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.A100T|RPGRIP1_uc001wak.2_Missense_Mutation_p.A110T|RPGRIP1_uc010aim.2_Missense_Mutation_p.A18T|RPGRIP1_uc001wal.2_Intron|RPGRIP1_uc001wam.2_5'UTR	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	635			A -> G (in a patient with normal tension glaucoma and a patient with primary open angle glaucoma; affects the interaction with NPHP4).		response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CATCCACCAGGCCTTCCTGAC	0.483													A	21792917	G	A	21792917	3	1	104	1	0	0	0	0	1	0	0	0	13549	1203	42	2	1957	2	RPGRIP1	14	21792917	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	36700	21792917	85556623	4890	71504											
CHD8	57680	broad.mit.edu	37	chr14	21882509	21882509	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttggttttgaagcgctttAatttttgatgtatcctctta	7	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:21882509A>C	uc001was.1	-	9	1350	c.1256T>G	c.(1255-1257)TTA>TGA	p.L419*	CHD8_uc001war.1_Nonsense_Mutation_p.L315*	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	698	Chromo 1.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GAAGCGCTTTAATTTTTGATG	0.403													C	21882509	A	C	21882509	4	2	104	1	0	0	0	0	0	1	0	0	3331	372	13	5	5772	5	CHD8	14	21882509	Nonsense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	89592	21882509	85467031	4891	71505											
SALL2	6297	broad.mit.edu	37	chr14	21992741	21992741	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttggcacagaagcggcatTtgtgccttccaccaggcttc	10	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:21992741T>G	uc001wbe.2	-	2	1403	c.1121A>C	c.(1120-1122)AAA>ACA	p.K374T	SALL2_uc010tly.1_Missense_Mutation_p.K372T|SALL2_uc010tlz.1_Missense_Mutation_p.K237T|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.K239T|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	sal-like 2	374	C2H2-type 1.						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|large_intestine(1)	3	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GAAGCGGCATTTGTGCCTTCC	0.562													G	21992741	T	G	21992741	3	3	104	1	0	0	0	0	1	0	0	0	13811	1841	64	5	1906	5	SALL2	14	21992741	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	110232	21992741	85356799	4892	71506											
OR10G3	26533	broad.mit.edu	37	chr14	22038511	22038511	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacatattgccaggtacctgTcataggccattagggtgtag	12	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:22038511T>C	uc010tmb.1	-	1	365	c.365A>G	c.(364-366)GAC>GGC	p.D122G		NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|central_nervous_system(1)	2	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		CAGGTACCTGTCATAGGCCAT	0.547													C	22038511	T	C	22038511	3	2	104	1	0	0	0	0	1	0	0	0	10900	1667	58	3	579	3	OR10G3	14	22038511	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	45770	22038511	85311029	4893	71507											
MMP14	4323	broad.mit.edu	37	chr14	23314568	23314568	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagggtcattcatgggcagCgatgaaggtgagaggggcaa	18	5	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:23314568C>T	uc001whc.2	+	9	1644	c.1410C>T	c.(1408-1410)AGC>AGT	p.S470S		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	470	Hemopexin-like 4.|Extracellular (Potential).					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TCATGGGCAGCGATGAAGGTG	0.562													T	23314568	C	T	23314568	2	4	104	1	0	0	0	0	0	0	0	1	9653	767	27	1		1	MMP14	14	23314568	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1276057	23314568	84034972	4894	71508											
PSMB11	122706	broad.mit.edu	37	chr14	23512164	23512164	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacgcagtgatgcctgtgtgCtgtacgtggagttacagaag	14	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:23512164C>A	uc010ake.1	+	1	789	c.730C>A	c.(730-732)CTG>ATG	p.L244M		NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN	proteasome beta 11 subunit precursor	244					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity				0	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		TGCCTGTGTGCTGTACGTGGA	0.602													A	23512164	C	A	23512164	3	1	104	1	0	0	0	0	1	0	0	0	12676	796	28	5	732	5	PSMB11	14	23512164	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	197596	23512164	83837376	4895	71509											
ACIN1	22985	broad.mit.edu	37	chr14	23551042	23551042	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcagaaattgaggagcttTttcctattgaatgaaaaaga	8	5	1	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:23551042T>G	uc001wit.3	-	5	942	c.614A>C	c.(613-615)AAA>ACA	p.K205T	ACIN1_uc001wis.3_5'Flank|ACIN1_uc010akg.2_Missense_Mutation_p.K205T|ACIN1_uc010tnj.1_Missense_Mutation_p.K165T	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	205	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TGAGGAGCTTTTTCCTATTGA	0.368													G	23551042	T	G	23551042	3	3	104	1	0	0	0	0	1	0	0	0	142	1841	64	5	3618	5	ACIN1	14	23551042	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	38878	23551042	83798498	4896	71510											
HOMEZ	57594	broad.mit.edu	37	chr14	23745818	23745818	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatgctccactgccaggtgTcatcagggactcctttaatt	9	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:23745818T>C	uc001wja.2	-	2	767	c.619A>G	c.(619-621)ACA>GCA	p.T207A	HOMEZ_uc001wjb.2_Missense_Mutation_p.T209A	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	homeodomain leucine zipper protein	207						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CTGCCAGGTGTCATCAGGGAC	0.537													C	23745818	T	C	23745818	3	2	104	1	0	0	0	0	1	0	0	0	7281	1667	58	3	1037	3	HOMEZ	14	23745818	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	194776	23745818	83603722	4897	71511											
MYH6	4624	broad.mit.edu	37	chr14	23869930	23869930	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caactcacgtcgaagatctcGaagccagcgatgtccaggac	10	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:23869930G>A	uc001wjv.2	-	13	1465	c.1398C>T	c.(1396-1398)TTC>TTT	p.F466F	MYH6_uc010akp.1_Silent_p.F466F	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	466	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGAAGATCTCGAAGCCAGCGA	0.438													A	23869930	G	A	23869930	2	1	104	1	0	0	0	0	0	0	0	1	10038	1049	37	1		1	MYH6	14	23869930	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	124112	23869930	83479610	4898	71512											
MYH6	4624	broad.mit.edu	37	chr14	23876239	23876239	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgccctactcaccttcccaTtctcggtttcagcaatgacc	5	16	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:23876239T>G	uc001wjv.2	-	3	261	c.194A>C	c.(193-195)AAT>ACT	p.N65T	MYH6_uc010akp.1_Missense_Mutation_p.N65T	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	65	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CACCTTCCCATTCTCGGTTTC	0.572													G	23876239	T	G	23876239	3	3	104	1	0	0	0	0	1	0	0	0	10038	1493	52	5	5773	5	MYH6	14	23876239	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	6309	23876239	83473301	4899	71513											
MYH7	4625	broad.mit.edu	37	chr14	23885495	23885495	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccagctgggcccggaggatCttgccctcctcgtgctccag	12	16	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:23885495C>A	uc001wjx.2	-	34	4777	c.4671G>T	c.(4669-4671)AAG>AAT	p.K1557N		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1557	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCCGGAGGATCTTGCCCTCCT	0.637													A	23885495	C	A	23885495	3	1	104	1	0	0	0	0	1	0	0	0	10039	912	32	5	1164	5	MYH7	14	23885495	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	9256	23885495	83464045	4900	71514											
MYH7	4625	broad.mit.edu	37	chr14	23893979	23893979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagcccaggagcctcaccGcctgcacttggagctgcagg	13	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:23893979G>A	uc001wjx.2	-	22	2784	c.2678C>T	c.(2677-2679)GCG>GTG	p.A893V		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	893	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GAGCCTCACCGCCTGCACTTG	0.597													A	23893979	G	A	23893979	3	1	104	1	0	0	0	0	1	0	0	0	10039	1101	38	1	3205	1	MYH7	14	23893979	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	8484	23893979	83455561	4901	71515											
NGDN	25983	broad.mit.edu	37	chr14	23946730	23946730	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggatcagaatcctattaagAagcggaagaagatacctcag	10	7	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:23946730A>C	uc001wjy.2	+	10	916	c.889A>C	c.(889-891)AAG>CAG	p.K297Q	NGDN_uc001wjz.2_Missense_Mutation_p.K297Q|NGDN_uc001wka.2_RNA	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN	neuroguidin isoform 1	297					regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus					0	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TCCTATTAAGAAGCGGAAGAA	0.473													C	23946730	A	C	23946730	3	2	104	1	0	0	0	0	1	0	0	0	10393	247	9	5	927	5	NGDN	14	23946730	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	52751	23946730	83402810	4902	71516											
AP1G2	8906	broad.mit.edu	37	chr14	24033302	24033302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacattccaccacagtgggCcgatgccgctgcacagcact	10	15	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:24033302C>T	uc001wkl.2	-	11	1381	c.1044G>A	c.(1042-1044)CGG>CGA	p.R348R	AP1G2_uc001wkj.2_5'UTR|AP1G2_uc001wkk.3_Silent_p.R276R|AP1G2_uc001wkn.2_5'UTR|uc001wko.1_Intron|AP1G2_uc001wkp.1_RNA|AP1G2_uc010tnp.1_Silent_p.R348R	NM_003917	NP_003908	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2	348					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			ovary(1)	1	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CCACAGTGGGCCGATGCCGCT	0.587													T	24033302	C	T	24033302	2	4	104	1	0	0	0	0	0	0	0	1	733	726	26	2		2	AP1G2	14	24033302	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	86572	24033302	83316238	4903	71517											
AP1G2	8906	broad.mit.edu	37	chr14	24034396	24034396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccaggatccgaagcagacGaagtatctggacctgaggtt	13	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:24034396G>A	uc001wkl.2	-	8	1091	c.754C>T	c.(754-756)CGT>TGT	p.R252C	AP1G2_uc001wkj.2_5'UTR|AP1G2_uc001wkk.3_Missense_Mutation_p.R180C|AP1G2_uc001wkn.2_5'UTR|uc001wko.1_Intron|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Missense_Mutation_p.R252C|AP1G2_uc010aks.2_3'UTR|AP1G2_uc010akt.2_3'UTR|AP1G2_uc010tnq.1_RNA	NM_003917	NP_003908	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2	252					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			ovary(1)	1	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CGAAGCAGACGAAGTATCTGG	0.557													A	24034396	G	A	24034396	3	1	104	1	0	0	0	0	1	0	0	0	733	1058	37	1	1663	1	AP1G2	14	24034396	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1094	24034396	83315144	4904	71518											
LRRC16B	90668	broad.mit.edu	37	chr14	24537875	24537875	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaggagaaggaggggaccctCttcccagagaggacacttcc	14	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:24537875C>A	uc001wlj.2	+	37	3922	c.3765C>A	c.(3763-3765)CTC>CTA	p.L1255L	LRRC16B_uc001wlk.2_Silent_p.L308L|CPNE6_uc010tnv.1_5'Flank|CPNE6_uc001wlm.2_5'Flank|CPNE6_uc001wll.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1255										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		AGGGGACCCTCTTCCCAGAGA	0.597													A	24537875	C	A	24537875	2	1	104	1	0	0	0	0	0	0	0	1	8972	900	32	5		5	LRRC16B	14	24537875	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	503479	24537875	82811665	4905	71519											
GZMB	3002	broad.mit.edu	37	chr14	25100413	25100413	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacacacaagagggcctccaGagtccccctgtgaatagaga	10	12	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:25100413G>A	uc001wps.2	-	5	674	c.608C>T	c.(607-609)TCT>TTT	p.S203F	GZMB_uc010ama.2_Missense_Mutation_p.S191F|GZMB_uc010amb.2_RNA	NM_004131	NP_004122	P10144	GRAB_HUMAN	granzyme B precursor	203	Peptidase S1.	Charge relay system.			activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity				0				GBM - Glioblastoma multiforme(265;0.028)		AGGGCCTCCAGAGTCCCCCTG	0.547													A	25100413	G	A	25100413	3	1	104	1	0	0	0	0	1	0	0	0	6916	942	33	4	139	4	GZMB	14	25100413	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	562538	25100413	82249127	4906	71520											
NOVA1	4857	broad.mit.edu	37	chr14	26949193	26949194	+	Missense_Mutation	DNP	CG	CG	TA													aaacactcacttgtttgatgCgatctggattaacggtggtc							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:26949193_26949194CG>TA	uc001wpy.2	-	3	754_755	c.436_437CG>TA	c.(436-438)CGC>TAC	p.R146Y	NOVA1_uc001wpz.2_Missense_Mutation_p.R146Y|NOVA1_uc001wqa.2_Missense_Mutation_p.R24Y|NOVA1_uc001wqb.2_Missense_Mutation_p.R146Y	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	149					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5				GBM - Glioblastoma multiforme(265;0.0135)		TTGTTTGATGCGATCTGGATTA	0.386													TA	26949194	CG	TA	26949193	3	4	104	1	0	0	0	0	1	0	0	0	10554	768	27	1	1129	1	NOVA1	14	26949193	Missense_Mutation	DNP	CG	TCGA-BR-8680-01A-11D-2394-08	1848780	26949193	80400347	4907	71521											
PRKD1	5587	broad.mit.edu	37	chr14	30068276	30068276	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagcaacacattttctggtTtgaggtcacagtgaacgata	9	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:30068276T>C	uc001wqh.2	-	15	2304	c.2123A>G	c.(2122-2124)AAA>AGA	p.K708R		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	708	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ATTTTCTGGTTTGAGGTCACA	0.398													C	30068276	T	C	30068276	3	2	104	1	0	0	0	0	1	0	0	0	12518	1841	64	3	631	3	PRKD1	14	30068276	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	3119083	30068276	77281264	4908	71522											
PRKD1	5587	broad.mit.edu	37	chr14	30107713	30107713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctccattaatggtcacttCgccaaggcagttgtttggta	9	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:30107713C>T	uc001wqh.2	-	6	1148	c.967G>A	c.(967-969)GAA>AAA	p.E323K		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	323					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ATGGTCACTTCGCCAAGGCAG	0.393													T	30107713	C	T	30107713	3	4	104	1	0	0	0	0	1	0	0	0	12518	893	31	1	1823	1	PRKD1	14	30107713	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	39437	30107713	77241827	4909	71523											
G2E3	55632	broad.mit.edu	37	chr14	31085717	31085717	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taagactagaaaaggaagaaAgttctcattacattggacat	8	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:31085717A>C	uc001wqk.2	+	15	2252	c.2098A>C	c.(2098-2100)AGT>CGT	p.S700R	G2E3_uc010tpf.1_Missense_Mutation_p.S654R|G2E3_uc001wql.1_Missense_Mutation_p.S212R	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	700					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						AAAGGAAGAAAGTTCTCATTA	0.303													C	31085717	A	C	31085717	3	2	104	1	0	0	0	0	1	0	0	0	6140	72	3	5	2152	5	G2E3	14	31085717	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	978004	31085717	76263823	4910	71524											
HECTD1	25831	broad.mit.edu	37	chr14	31581680	31581680	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctagtttcaaatggtattaGaaaaggacatttgctggtta	9	4	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:31581680G>A	uc001wrc.1	-	35	6709	c.6220C>T	c.(6220-6222)CTA>TTA	p.L2074L	HECTD1_uc001wra.1_Silent_p.L200L|HECTD1_uc001wrb.1_Silent_p.L200L	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	2074	K-box.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AATGGTATTAGAAAAGGACAT	0.378													A	31581680	G	A	31581680	2	1	104	1	0	0	0	0	0	0	0	1	7039	933	33	4		4	HECTD1	14	31581680	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	495963	31581680	75767860	4911	71525											
HECTD1	25831	broad.mit.edu	37	chr14	31583209	31583209	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggtaggttatcaagtcattCtttggtaattcatcagtgcc	9	7	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:31583209C>A	uc001wrc.1	-	32	6219	c.5730G>T	c.(5728-5730)AAG>AAT	p.K1910N	HECTD1_uc001wra.1_Missense_Mutation_p.K36N|HECTD1_uc001wrb.1_Missense_Mutation_p.K36N|HECTD1_uc001wrd.1_Missense_Mutation_p.K1378N	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1910					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCAAGTCATTCTTTGGTAATT	0.408													A	31583209	C	A	31583209	3	1	104	1	0	0	0	0	1	0	0	0	7039	912	32	5	2150	5	HECTD1	14	31583209	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1529	31583209	75766331	4912	71526											
HECTD1	25831	broad.mit.edu	37	chr14	31590701	31590701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgacgttgcagggatgggCgtctcagaatctaaaataaa	11	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:31590701C>T	uc001wrc.1	-	28	5615	c.5126G>A	c.(5125-5127)CGC>CAC	p.R1709H	HECTD1_uc001wra.1_5'UTR|HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.R1177H	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1709					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CAGGGATGGGCGTCTCAGAAT	0.488													T	31590701	C	T	31590701	3	4	104	1	0	0	0	0	1	0	0	0	7039	768	27	1	2770	1	HECTD1	14	31590701	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7492	31590701	75758839	4913	71527											
HECTD1	25831	broad.mit.edu	37	chr14	31641112	31641112	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgcagcataatgtaatgaTgatgacctttgacctctatt	7	8	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:31641112T>C	uc001wrc.1	-	8	1776	c.1287A>G	c.(1285-1287)TCA>TCG	p.S429S		NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	429	ANK 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AATGTAATGATGATGACCTTT	0.294													C	31641112	T	C	31641112	2	2	104	1	0	0	0	0	0	0	0	1	7039	1451	51	3		3	HECTD1	14	31641112	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	50411	31641112	75708428	4914	71528											
HEATR5A	25938	broad.mit.edu	37	chr14	31816982	31816982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagaagtgctgtcctgcGccaaagtataaaggattcca	11	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:31816982G>A	uc001wrf.3	-	13	2038	c.1961C>T	c.(1960-1962)GCG>GTG	p.A654V	HEATR5A_uc010ami.2_Missense_Mutation_p.A552V|HEATR5A_uc001wrg.1_Missense_Mutation_p.A536V|HEATR5A_uc010tpk.1_Missense_Mutation_p.A947V	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	941							binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GCTGTCCTGCGCCAAAGTATA	0.408													A	31816982	G	A	31816982	3	1	104	1	0	0	0	0	1	0	0	0	7031	1087	38	1	3372	1	HEATR5A	14	31816982	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	175870	31816982	75532558	4915	71529											
HEATR5A	25938	broad.mit.edu	37	chr14	31827881	31827881	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgagcgcatacaaccccaaaGagcttggatgcagaactaat	9	10	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:31827881G>T	uc001wrf.3	-	10	1571	c.1494C>A	c.(1492-1494)CTC>CTA	p.L498L	HEATR5A_uc010ami.2_Silent_p.L396L|HEATR5A_uc001wrg.1_Silent_p.L380L|HEATR5A_uc010tpk.1_Silent_p.L791L	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	785							binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CAACCCCAAAGAGCTTGGATG	0.408													T	31827881	G	T	31827881	2	4	104	1	0	0	0	0	0	0	0	1	7031	929	33	5		5	HEATR5A	14	31827881	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	10899	31827881	75521659	4916	71530											
AKAP6	9472	broad.mit.edu	37	chr14	33016131	33016131	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagccattctgccactaaaTcagctttaattcagaaactg	6	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:33016131T>G	uc001wrq.2	+	4	2442	c.2272T>G	c.(2272-2274)TCA>GCA	p.S758A	AKAP6_uc010aml.2_Missense_Mutation_p.S755A	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	758					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGCCACTAAATCAGCTTTAAT	0.403													G	33016131	T	G	33016131	3	3	104	1	0	0	0	0	1	0	0	0	455	1435	50	5	2282	5	AKAP6	14	33016131	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1188250	33016131	74333409	4917	71531											
AKAP6	9472	broad.mit.edu	37	chr14	33293854	33293854	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagccaaatctaaagttcaaGacctctccttgaaggcaaat	6	11	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:33293854G>T	uc001wrq.2	+	13	7005	c.6835G>T	c.(6835-6837)GAC>TAC	p.D2279Y		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	2279					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TAAAGTTCAAGACCTCTCCTT	0.428													T	33293854	G	T	33293854	3	4	104	1	0	0	0	0	1	0	0	0	455	942	33	5	6881	5	AKAP6	14	33293854	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	277723	33293854	74055686	4918	71532											
NPAS3	64067	broad.mit.edu	37	chr14	33684409	33684409	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttacaagcattgagaaaggaGaaatcccgagatgctgctcg	11	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:33684409G>T	uc001wru.2	+	3	226	c.162G>T	c.(160-162)GAG>GAT	p.E54D	NPAS3_uc001wrs.2_Missense_Mutation_p.E24D|NPAS3_uc001wrt.2_Missense_Mutation_p.E24D|NPAS3_uc001wrv.2_Missense_Mutation_p.E24D|NPAS3_uc001wrw.2_5'UTR	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	54	Basic motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TGAGAAAGGAGAAATCCCGAG	0.433													T	33684409	G	T	33684409	3	4	104	1	0	0	0	0	1	0	0	0	10564	933	33	5	172	5	NPAS3	14	33684409	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	390555	33684409	73665131	4919	71533											
BAZ1A	11177	broad.mit.edu	37	chr14	35222877	35222877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggttgtattcaaagcagttcGaaaacattaactcaatgtca	7	7	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:35222877G>A	uc001wsk.2	-	27	5076	c.4508C>T	c.(4507-4509)TCG>TTG	p.S1503L	BAZ1A_uc001wsl.2_Missense_Mutation_p.S1471L	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1503	Bromo.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AAAGCAGTTCGAAAACATTAA	0.333													A	35222877	G	A	35222877	3	1	104	1	0	0	0	0	1	0	0	0	1329	1059	37	1	166	1	BAZ1A	14	35222877	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1538468	35222877	72126663	4920	71534											
SRP54	6729	broad.mit.edu	37	chr14	35482598	35482598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgcctccattgggcaggCttgtgaagcccaggctaagg	15	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:35482598C>T	uc001wso.2	+	9	1034	c.683C>T	c.(682-684)GCT>GTT	p.A228V	SRP54_uc010tpp.1_Missense_Mutation_p.A179V|SRP54_uc010tpq.1_Missense_Mutation_p.A164V	NM_003136	NP_003127	P61011	SRP54_HUMAN	signal recognition particle 54kDa isoform 1	228	G-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			ovary(1)	1	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		ATTGGGCAGGCTTGTGAAGCC	0.383													T	35482598	C	T	35482598	3	4	104	1	0	0	0	0	1	0	0	0	15154	797	28	2	713	2	SRP54	14	35482598	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	259721	35482598	71866942	4921	71535											
RALGAPA1	253959	broad.mit.edu	37	chr14	36074888	36074888	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtccttcagcaacataAaatactgcaatcttgtgtgt	6	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:36074888A>G	uc001wti.2	-	35	5830	c.5439T>C	c.(5437-5439)TTT>TTC	p.F1813F	RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Silent_p.F1813F|RALGAPA1_uc010tpv.1_Silent_p.F1826F|RALGAPA1_uc010tpw.1_Silent_p.F1860F	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	1813	Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						CAGCAACATAAAATACTGCAA	0.353													G	36074888	A	G	36074888	2	3	104	1	0	0	0	0	0	0	0	1	13013	11	1	3		3	RALGAPA1	14	36074888	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	592290	36074888	71274652	4922	71536											
RALGAPA1	253959	broad.mit.edu	37	chr14	36096544	36096544	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttaagtgagattccagttctCtgtaagcattcaggactagt	9	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:36096544C>T	uc001wti.2	-	33	5482	c.5091G>A	c.(5089-5091)CAG>CAA	p.Q1697Q	RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Silent_p.Q1697Q|RALGAPA1_uc010tpv.1_Silent_p.Q1710Q|RALGAPA1_uc010tpw.1_Silent_p.Q1744Q	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	1697	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						TTCCAGTTCTCTGTAAGCATT	0.368													T	36096544	C	T	36096544	2	4	104	1	0	0	0	0	0	0	0	1	13013	912	32	4		4	RALGAPA1	14	36096544	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	21656	36096544	71252996	4923	71537											
RALGAPA1	253959	broad.mit.edu	37	chr14	36123671	36123671	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaagctacgtgggctactgTtttattagtaaactgcaata	8	7	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:36123671T>C	uc001wti.2	-	29	4382	c.3991A>G	c.(3991-3993)ACA>GCA	p.T1331A	RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.T1331A|RALGAPA1_uc010tpv.1_Missense_Mutation_p.T1344A|RALGAPA1_uc010tpw.1_Missense_Mutation_p.T1378A	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	1331	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						TGGGCTACTGTTTTATTAGTA	0.294													C	36123671	T	C	36123671	3	2	104	1	0	0	0	0	1	0	0	0	13013	1725	60	3	2320	3	RALGAPA1	14	36123671	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	27127	36123671	71225869	4924	71538											
PAX9	5083	broad.mit.edu	37	chr14	37145483	37145483	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaccccagcccaagtgtcGccttacatgacctacagtgc	7	17	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:37145483G>A	uc001wty.3	+	5	1569	c.852G>A	c.(850-852)TCG>TCA	p.S284S	PAX9_uc010amq.2_RNA	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	284					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CCCAAGTGTCGCCTTACATGA	0.537													A	37145483	G	A	37145483	2	1	104	1	0	0	0	0	0	0	0	1	11486	1074	38	1		1	PAX9	14	37145483	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1021812	37145483	70204057	4925	71539											
SLC25A21	89874	broad.mit.edu	37	chr14	37283144	37283144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttccatttggaaaatcattCgaaagctgtctaccaagctt	6	10	2	0	rs147035536	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:37283144C>T	uc001wtz.1	-	3	492	c.182G>A	c.(181-183)CGA>CAA	p.R61Q		NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial	61	Solcar 1.				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			skin(1)	1	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		GAAAATCATTCGAAAGCTGTC	0.313													T	37283144	C	T	37283144	3	4	104	1	0	0	0	0	1	0	0	0	14484	884	31	1	754	1	SLC25A21	14	37283144	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	137661	37283144	70066396	4926	71540											
MIPOL1	145282	broad.mit.edu	37	chr14	37736309	37736309	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggccagggcagagatcaacGaattttcagatcatcagttc	10	9	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:37736309G>A	uc001wuc.2	+	5	689	c.186G>A	c.(184-186)ACG>ACA	p.T62T	MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Silent_p.T31T|MIPOL1_uc001wud.2_Silent_p.T62T|MIPOL1_uc010ams.2_Silent_p.T62T|MIPOL1_uc001wue.2_Silent_p.T31T|MIPOL1_uc010amt.2_Intron	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	62										ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AGAGATCAACGAATTTTCAGA	0.368													A	37736309	G	A	37736309	2	1	104	1	0	0	0	0	0	0	0	1	9593	1045	37	1		1	MIPOL1	14	37736309	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	453165	37736309	69613231	4927	71541											
MIPOL1	145282	broad.mit.edu	37	chr14	37737950	37737950	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagataaagagaagacaatAgcatttcttctaaaagaatt	6	5	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:37737950A>C	uc001wuc.2	+	6	842	c.339A>C	c.(337-339)ATA>ATC	p.I113I	MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Silent_p.I82I|MIPOL1_uc001wud.2_Silent_p.I113I|MIPOL1_uc010ams.2_Silent_p.I113I|MIPOL1_uc001wue.2_Silent_p.I82I|MIPOL1_uc010amt.2_Intron	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	113	Potential.									ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AGAAGACAATAGCATTTCTTC	0.308													C	37737950	A	C	37737950	2	2	104	1	0	0	0	0	0	0	0	1	9593	410	15	5		5	MIPOL1	14	37737950	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1641	37737950	69611590	4928	71542											
CLEC14A	161198	broad.mit.edu	37	chr14	38724535	38724535	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtttgtcccagcgagcgccGatttcgtccgcgatgcaagt	12	12	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:38724535G>A	uc001wum.1	-	1	1040	c.693C>T	c.(691-693)ATC>ATT	p.I231I		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	231	Extracellular (Potential).					integral to membrane	sugar binding			ovary(3)|skin(1)	4	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AGCGAGCGCCGATTTCGTCCG	0.632													A	38724535	G	A	38724535	2	1	104	1	0	0	0	0	0	0	0	1	3499	1048	37	1		1	CLEC14A	14	38724535	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	986585	38724535	68625005	4929	71543											
SEC23A	10484	broad.mit.edu	37	chr14	39556144	39556144	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttattacctgttggaaggAggtggctgctgtacctgagg	14	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:39556144A>G	uc001wup.1	-	6	895	c.672T>C	c.(670-672)CCT>CCC	p.P224P	SEC23A_uc010tqa.1_Silent_p.P86P|SEC23A_uc010tqb.1_Silent_p.P195P|SEC23A_uc010tqc.1_Silent_p.P86P	NM_006364	NP_006355	Q15436	SC23A_HUMAN	SEC23-related protein A	224					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TGTTGGAAGGAGGTGGCTGCT	0.388													G	39556144	A	G	39556144	2	3	104	1	0	0	0	0	0	0	0	1	13991	291	11	3		3	SEC23A	14	39556144	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	831609	39556144	67793396	4930	71544											
MIA2	117153	broad.mit.edu	37	chr14	39716573	39716573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagatgagaatgacctagaGgaattaaataatggtgagcc	12	4	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:39716573G>A	uc001wux.2	+	4	989	c.795G>A	c.(793-795)GAG>GAA	p.E265E	MIA2_uc010amy.1_Silent_p.E196E	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	265						extracellular region				ovary(1)|breast(1)	2	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		ATGACCTAGAGGAATTAAATA	0.388													A	39716573	G	A	39716573	2	1	104	1	0	0	0	0	0	0	0	1	9564	991	35	4		4	MIA2	14	39716573	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	160429	39716573	67632967	4931	71545											
MIA2	117153	broad.mit.edu	37	chr14	39716613	39716613	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcaaacagaacatcagcaaGaatctgaatcagaaattgat	6	8	4	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:39716613G>T	uc001wux.2	+	4	1029	c.835G>T	c.(835-837)GAA>TAA	p.E279*	MIA2_uc010amy.1_Nonsense_Mutation_p.E210*	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	279						extracellular region				ovary(1)|breast(1)	2	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		ACATCAGCAAGAATCTGAATC	0.413													T	39716613	G	T	39716613	4	4	104	1	0	0	0	0	0	1	0	0	9564	943	33	5	849	5	MIA2	14	39716613	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	40	39716613	67632927	4932	71546											
FBXO33	254170	broad.mit.edu	37	chr14	39870682	39870682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgaaagctggtgctctttCgtgacagggctttccaatgc	11	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:39870682C>T	uc001wvk.2	-	3	1432	c.1094G>A	c.(1093-1095)CGA>CAA	p.R365Q		NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	F-box protein 33	365											0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		GGTGCTCTTTCGTGACAGGGC	0.418													T	39870682	C	T	39870682	3	4	104	1	0	0	0	0	1	0	0	0	5743	884	31	1	581	1	FBXO33	14	39870682	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	154069	39870682	67478858	4933	71547											
FBXO33	254170	broad.mit.edu	37	chr14	39870866	39870866	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtgcagattcacaaatcGctccagttcaactgcagtaa	8	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:39870866G>A	uc001wvk.2	-	3	1248	c.910C>T	c.(910-912)CGA>TGA	p.R304*		NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	F-box protein 33	304											0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TTCACAAATCGCTCCAGTTCA	0.433													A	39870866	G	A	39870866	4	1	104	1	0	0	0	0	0	1	0	0	5743	1095	38	1	765	1	FBXO33	14	39870866	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	184	39870866	67478674	4934	71548											
FAM179B	23116	broad.mit.edu	37	chr14	45431763	45431763	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcattatgagaggagagaaaAactactacttccgtggagct	11	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:45431763A>C	uc001wvv.2	+	1	348	c.139A>C	c.(139-141)AAC>CAC	p.N47H	FAM179B_uc001wvw.2_Missense_Mutation_p.N47H|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.N47H|FAM179B_uc001wvu.2_Missense_Mutation_p.N47H	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	47							binding			skin(2)|upper_aerodigestive_tract(1)	3						AGGAGAGAAAAACTACTACTT	0.592													C	45431763	A	C	45431763	3	2	104	1	0	0	0	0	1	0	0	0	5506	14	1	5	141	5	FAM179B	14	45431763	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	5560897	45431763	61917777	4935	71549											
FAM179B	23116	broad.mit.edu	37	chr14	45432816	45432816	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgttggcttcattagtTtgctatataatttgttagac	8	5	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:45432816T>C	uc001wvv.2	+	1	1401	c.1192T>C	c.(1192-1194)TTG>CTG	p.L398L	FAM179B_uc001wvw.2_Silent_p.L398L|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Silent_p.L398L|FAM179B_uc001wvu.2_Silent_p.L398L	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	398	HEAT 2.						binding			skin(2)|upper_aerodigestive_tract(1)	3						CTTCATTAGTTTGCTATATAA	0.433													C	45432816	T	C	45432816	2	2	104	1	0	0	0	0	0	0	0	1	5506	1838	64	3		3	FAM179B	14	45432816	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1053	45432816	61916724	4936	71550											
FAM179B	23116	broad.mit.edu	37	chr14	45433587	45433587	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtattaagtgcaggaaaaGgaaaaaataaattaccatgg	11	3	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:45433587G>T	uc001wvv.2	+	1	2172	c.1963G>T	c.(1963-1965)GGA>TGA	p.G655*	FAM179B_uc001wvw.2_Nonsense_Mutation_p.G655*|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Nonsense_Mutation_p.G655*|FAM179B_uc001wvu.2_Nonsense_Mutation_p.G655*	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	655							binding			skin(2)|upper_aerodigestive_tract(1)	3						TGCAGGAAAAGGAAAAAATAA	0.433													T	45433587	G	T	45433587	4	4	104	1	0	0	0	0	0	1	0	0	5506	1001	35	5	1965	5	FAM179B	14	45433587	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	771	45433587	61915953	4937	71551											
FKBP3	2287	broad.mit.edu	37	chr14	45587237	45587237	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaaaggatacttggcaTcaggctgtcctttctttccg	10	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:45587237T>C	uc010tqf.1	-	6	687	c.614A>G	c.(613-615)GAT>GGT	p.D205G		NM_002013	NP_002004	Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	205	PPIase FKBP-type.				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity				0						ATACTTGGCATCAGGCTGTCC	0.408													C	45587237	T	C	45587237	3	2	104	1	0	0	0	0	1	0	0	0	5909	1435	50	3	68	3	FKBP3	14	45587237	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	153650	45587237	61762303	4938	71552											
FANCM	57697	broad.mit.edu	37	chr14	45606351	45606351	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacctcaggtcatggtaaaTgacctttctagaggagcttg	10	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:45606351T>C	uc001wwd.3	+	2	687	c.588T>C	c.(586-588)AAT>AAC	p.N196N	FANCM_uc001wwc.2_Silent_p.N196N|FANCM_uc010anf.2_Silent_p.N196N|FKBP3_uc010tqf.1_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	196	Helicase ATP-binding.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						TCATGGTAAATGACCTTTCTA	0.403								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				C	45606351	T	C	45606351	2	2	104	1	0	0	0	0	0	0	0	1	5671	1461	51	3		3	FANCM	14	45606351	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	19114	45606351	61743189	4939	71553											
FANCM	57697	broad.mit.edu	37	chr14	45618133	45618133	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacatattctcatgaaagaAaagttgaaaagcttattgtt	7	4	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:45618133A>C	uc001wwd.3	+	4	952	c.853A>C	c.(853-855)AAA>CAA	p.K285Q	FANCM_uc001wwc.2_Missense_Mutation_p.K285Q|FANCM_uc010anf.2_Missense_Mutation_p.K259Q	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	285					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						TCATGAAAGAAAAGTTGAAAA	0.363								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				C	45618133	A	C	45618133	3	2	104	1	0	0	0	0	1	0	0	0	5671	15	1	5	867	5	FANCM	14	45618133	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	11782	45618133	61731407	4940	71554											
FANCM	57697	broad.mit.edu	37	chr14	45645419	45645419	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctttcacccttgaacagTaaaagcgaatctttacctgt	6	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:45645419T>C	uc001wwd.3	+	14	3561	c.3462T>C	c.(3460-3462)AGT>AGC	p.S1154S	FANCM_uc010anf.2_Silent_p.S1128S|FANCM_uc001wwe.3_Silent_p.S690S|FANCM_uc010ang.2_Silent_p.S368S	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1154					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						CCTTGAACAGTAAAAGCGAAT	0.383								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				C	45645419	T	C	45645419	2	2	104	1	0	0	0	0	0	0	0	1	5671	1635	57	3		3	FANCM	14	45645419	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	27286	45645419	61704121	4941	71555											
RPL10L	140801	broad.mit.edu	37	chr14	47120402	47120402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccaccatgtcttcaaattCgtcagcattaaacttcgtga	7	11	3	1	rs61745038	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:47120402C>T	uc001wwg.2	-	1	627	c.538G>A	c.(538-540)GAA>AAA	p.E180K		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	180					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						TCTTCAAATTCGTCAGCATTA	0.517													T	47120402	C	T	47120402	3	4	104	1	0	0	0	0	1	0	0	0	13556	893	31	1	110	1	RPL10L	14	47120402	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1474983	47120402	60229138	4942	71556											
MDGA2	161357	broad.mit.edu	37	chr14	47342659	47342659	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgttgtccatacatgtgaTaaaagaagctgaaacaatat	7	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:47342659T>C	uc001wwj.3	-	14	2718	c.2522A>G	c.(2521-2523)TAT>TGT	p.Y841C	MDGA2_uc001wwh.3_Missense_Mutation_p.Y43C|MDGA2_uc001wwi.3_Missense_Mutation_p.Y612C|MDGA2_uc010ani.2_Missense_Mutation_p.Y401C	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	841	MAM.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						ATACATGTGATAAAAGAAGCT	0.368													C	47342659	T	C	47342659	3	2	104	1	0	0	0	0	1	0	0	0	9407	1406	49	3	364	3	MDGA2	14	47342659	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	222257	47342659	60006881	4943	71557											
MDGA2	161357	broad.mit.edu	37	chr14	47343401	47343401	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcaaatccacaatgaaattCtcctgttggtaaattttaat	4	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:47343401C>A	uc001wwj.3	-	13	2429	c.2233G>T	c.(2233-2235)GAA>TAA	p.E745*	MDGA2_uc001wwh.3_5'UTR|MDGA2_uc001wwi.3_Nonsense_Mutation_p.E516*|MDGA2_uc010ani.2_Nonsense_Mutation_p.E305*	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	745					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						CAATGAAATTCTCCTGTTGGt	0.239													A	47343401	C	A	47343401	4	1	104	1	0	0	0	0	0	1	0	0	9407	922	32	5	657	5	MDGA2	14	47343401	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	742	47343401	60006139	4944	71558											
MDGA2	161357	broad.mit.edu	37	chr14	47600940	47600940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttattggacagtctaaacGacaccatcttatcaggaata	6	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:47600940G>A	uc001wwj.3	-	5	891	c.695C>T	c.(694-696)TCG>TTG	p.S232L	MDGA2_uc001wwi.3_Missense_Mutation_p.S3L|MDGA2_uc010ani.2_5'UTR	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	232	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						CAGTCTAAACGACACCATCTT	0.313													A	47600940	G	A	47600940	3	1	104	1	0	0	0	0	1	0	0	0	9407	1059	37	1	2227	1	MDGA2	14	47600940	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	257539	47600940	59748600	4945	71559											
C14orf104	55172	broad.mit.edu	37	chr14	50100024	50100024	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccaaagaatcgttgtttAcaccataataccactctctc	3	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:50100024A>G	uc001wws.3	-	1	1925	c.1844T>C	c.(1843-1845)GTA>GCA	p.V615A	SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Missense_Mutation_p.V615A	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN	kintoun isoform 1	615					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm					0	all_epithelial(31;0.0021)|Breast(41;0.0124)					ATCGTTGTTTACACCATAATA	0.358									Kartagener_syndrome				G	50100024	A	G	50100024	3	3	104	1	0	0	0	0	1	0	0	0	1736	391	14	3	681	3	C14orf104	14	50100024	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2499084	50100024	57249516	4946	71560											
ATL1	51062	broad.mit.edu	37	chr14	51099045	51099045	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctactgaacaatcagaaaaGaaaaaaatgtaatgcaaatt	5	5	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:51099045G>T	uc001wyf.3	+	13	1906	c.1665G>T	c.(1663-1665)AAG>AAT	p.K555N	ATL1_uc001wyd.3_Missense_Mutation_p.K550N|ATL1_uc001wye.3_Missense_Mutation_p.K550N	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1 isoform a	555	Cytoplasmic.|Sufficient for membrane association.				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			skin(3)|central_nervous_system(1)	4						AATCAGAAAAGAAAAAAATGT	0.363													T	51099045	G	T	51099045	3	4	104	1	0	0	0	0	1	0	0	0	1106	933	33	5	1719	5	ATL1	14	51099045	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	999021	51099045	56250495	4947	71561											
NIN	51199	broad.mit.edu	37	chr14	51239123	51239123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atccaggcaggagaagacccGaaagccaatggtacttgtca	11	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:51239123G>A	uc001wym.2	-	9	1068	c.877C>T	c.(877-879)CGG>TGG	p.R293W	NIN_uc001wyi.2_Missense_Mutation_p.R293W|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.R293W|NIN_uc010tqp.1_Missense_Mutation_p.R299W|NIN_uc001wyo.2_Missense_Mutation_p.R293W|NIN_uc001wyp.1_Missense_Mutation_p.R255W	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	293					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					GAGAAGACCCGAAAGCCAATG	0.517			T	PDGFRB	MPD								A	51239123	G	A	51239123	3	1	104	1	0	0	0	0	1	0	0	0	10417	1057	37	1	5764	1	NIN	14	51239123	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	140078	51239123	56110417	4948	71562											
ABHD12B	145447	broad.mit.edu	37	chr14	51345491	51345491	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccatttcttgtggatttaaaGaaaccagagttaaagattcc	7	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:51345491G>T	uc001wys.2	+	3	276	c.261G>T	c.(259-261)AAG>AAT	p.K87N	ABHD12B_uc001wyq.2_5'UTR|ABHD12B_uc001wyr.2_Intron|ABHD12B_uc010any.2_RNA	NM_181533	NP_853511	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B isoform b	87							hydrolase activity			breast(1)	1	all_epithelial(31;0.00481)|Breast(41;0.148)					TGGATTTAAAGAAACCAGAGT	0.413													T	51345491	G	T	51345491	3	4	104	1	0	0	0	0	1	0	0	0	77	957	33	5		5	ABHD12B	14	51345491	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	106368	51345491	56004049	4949	71563											
TRIM9	114088	broad.mit.edu	37	chr14	51475949	51475949	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcttatgagggcgtcagaAatctaatcagataaagagga	10	6	4	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:51475949A>C	uc001wyx.3	-	5	1920	c.1155T>G	c.(1153-1155)ATT>ATG	p.I385M	TRIM9_uc001wyy.2_Missense_Mutation_p.I385M|TRIM9_uc001wyz.3_Missense_Mutation_p.I385M	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	385	COS.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					GGGCGTCAGAAATCTAATCAG	0.493													C	51475949	A	C	51475949	3	2	104	1	0	0	0	0	1	0	0	0	16546	10	1	5	1051	5	TRIM9	14	51475949	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	130458	51475949	55873591	4950	71564											
FRMD6	122786	broad.mit.edu	37	chr14	52174833	52174833	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggactacatcctgaagcAcattccaaacatgcacaaag	7	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:52174833A>G	uc001wzd.2	+	7	881	c.596A>G	c.(595-597)CAC>CGC	p.H199R	FRMD6_uc001wzb.2_Missense_Mutation_p.H191R|FRMD6_uc001wzc.2_Missense_Mutation_p.H191R|FRMD6_uc001wze.2_Missense_Mutation_p.H122R	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	199	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			ovary(1)|breast(1)|central_nervous_system(1)	3	all_epithelial(31;0.0163)|Breast(41;0.089)					ATCCTGAAGCACATTCCAAAC	0.458													G	52174833	A	G	52174833	3	3	104	1	0	0	0	0	1	0	0	0	6054	159	6	3	594	3	FRMD6	14	52174833	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	698884	52174833	55174707	4951	71565											
PTGER2	5732	broad.mit.edu	37	chr14	52793970	52793970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatgaatgaaacctcttcccGaaaggaaaaatgggacctcc	8	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:52793970G>A	uc001wzr.2	+	2	1126	c.875G>A	c.(874-876)CGA>CAA	p.R292Q		NM_000956	NP_000947	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	292	Extracellular (Potential).					integral to plasma membrane	prostaglandin E receptor activity			lung(1)|breast(1)	2	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	ACCTCTTCCCGAAAGGAAAAA	0.393													A	52793970	G	A	52793970	3	1	104	1	0	0	0	0	1	0	0	0	12743	1058	37	1	881	1	PTGER2	14	52793970	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	619137	52793970	54555570	4952	71566											
FERMT2	10979	broad.mit.edu	37	chr14	53331516	53331516	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccttctgcaactggaatcagGagtttaatgttaaatttttg	8	6	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:53331516G>T	uc001xad.2	-	11	1384	c.1329C>A	c.(1327-1329)CTC>CTA	p.L443L	FERMT2_uc001xac.2_Silent_p.L443L|FERMT2_uc001xae.2_Silent_p.L443L|FERMT2_uc001xaf.2_Silent_p.L443L	NM_006832	NP_006823	Q96AC1	FERM2_HUMAN	fermitin family homolog 2 isoform 1	443	FERM.|PH.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding				0	Breast(41;0.0342)					CTGGAATCAGGAGTTTAATGT	0.308													T	53331516	G	T	53331516	2	4	104	1	0	0	0	0	0	0	0	1	5818	1161	41	5		5	FERMT2	14	53331516	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	537546	53331516	54018024	4953	71567											
GMFB	2764	broad.mit.edu	37	chr14	54950455	54950455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcttttccactaaatcttCggcaacatcacaaacaacca	3	14	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:54950455C>T	uc010tqz.1	-	2	133	c.34G>A	c.(34-36)GAA>AAA	p.E12K	GMFB_uc001xaw.1_RNA	NM_004124	NP_004115	P60983	GMFB_HUMAN	glia maturation factor, beta	12	ADF-H.				nervous system development|protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity				0						ACTAAATCTTCGGCAACATCA	0.338													T	54950455	C	T	54950455	3	4	104	1	0	0	0	0	1	0	0	0	6489	893	31	1	418	1	GMFB	14	54950455	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1618939	54950455	52399085	4954	71568											
WDHD1	11169	broad.mit.edu	37	chr14	55455824	55455824	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctattgtataattcaaagtgTttgataagtgtgttgcatgg	10	3	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:55455824T>G	uc001xbm.1	-	13	1526	c.1448A>C	c.(1447-1449)AAC>ACC	p.N483T	WDHD1_uc010aom.1_Intron|WDHD1_uc001xbn.1_Missense_Mutation_p.N360T	NM_007086	NP_009017	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	483						cytoplasm|nucleoplasm	DNA binding			skin(1)	1						ATTCAAAGTGTTTGATAAGTG	0.373													G	55455824	T	G	55455824	3	3	104	1	0	0	0	0	1	0	0	0	17268	1725	60	5	1997	5	WDHD1	14	55455824	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	505369	55455824	51893716	4955	71569											
KTN1	3895	broad.mit.edu	37	chr14	56078947	56078947	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaaagcagaaaagaaaAagaataaaaagaaagaaatc	7	2	0	6			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:56078947A>C	uc001xcb.2	+	3	483	c.181A>C	c.(181-183)AAG>CAG	p.K61Q	KTN1_uc001xce.2_Missense_Mutation_p.K61Q|KTN1_uc001xcc.2_Missense_Mutation_p.K61Q|KTN1_uc001xcd.2_Missense_Mutation_p.K61Q|KTN1_uc010trb.1_Missense_Mutation_p.K61Q|KTN1_uc001xcf.1_Missense_Mutation_p.K61Q	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	kinectin 1 isoform a	61	Lumenal (Potential).				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						agaaaagaaaaagaataaaaa	0.279			T	RET	papillary thryoid								C	56078947	A	C	56078947	3	2	104	1	0	0	0	0	1	0	0	0	8585	15	1	5	183	5	KTN1	14	56078947	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	623123	56078947	51270593	4956	71570											
KTN1	3895	broad.mit.edu	37	chr14	56099965	56099965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aattttagtttcagcaagttCgtgagcagatggaggcagag	13	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:56099965C>T	uc001xcb.2	+	9	1536	c.1234C>T	c.(1234-1236)CGT>TGT	p.R412C	KTN1_uc001xce.2_Missense_Mutation_p.R412C|KTN1_uc001xcc.2_Missense_Mutation_p.R412C|KTN1_uc001xcd.2_Missense_Mutation_p.R412C|KTN1_uc010trb.1_Missense_Mutation_p.R412C|KTN1_uc001xcf.1_Missense_Mutation_p.R412C	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	kinectin 1 isoform a	412	Lumenal (Potential).|Potential.				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						TCAGCAAGTTCGTGAGCAGAT	0.328			T	RET	papillary thryoid								T	56099965	C	T	56099965	3	4	104	1	0	0	0	0	1	0	0	0	8585	884	31	1	1260	1	KTN1	14	56099965	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	21018	56099965	51249575	4957	71571											
KTN1	3895	broad.mit.edu	37	chr14	56117309	56117309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgaaacaggaaataaaggCtctaaaagaagaaataggaa	9	3	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:56117309C>T	uc001xcb.2	+	25	2821	c.2519C>T	c.(2518-2520)GCT>GTT	p.A840V	KTN1_uc001xce.2_Missense_Mutation_p.A840V|KTN1_uc001xcc.2_Missense_Mutation_p.A840V|KTN1_uc001xcd.2_Intron|KTN1_uc010trb.1_Missense_Mutation_p.A840V|KTN1_uc001xcf.1_Intron|KTN1_uc010aoq.2_Missense_Mutation_p.A135V	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	kinectin 1 isoform a	840	Lumenal (Potential).|Potential.				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						GAAATAAAGGCTCTAAAAGAA	0.348			T	RET	papillary thryoid								T	56117309	C	T	56117309	3	4	104	1	0	0	0	0	1	0	0	0	8585	797	28	2	2609	2	KTN1	14	56117309	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	17344	56117309	51232231	4958	71572											
KTN1	3895	broad.mit.edu	37	chr14	56137449	56137449	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacttttctcgtccacagagTtatggtgaatggttgcatgg	11	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:56137449T>G	uc001xcb.2	+	36	3572	c.3270T>G	c.(3268-3270)AGT>AGG	p.S1090R	KTN1_uc001xce.2_Missense_Mutation_p.S1061R|KTN1_uc001xcc.2_Missense_Mutation_p.S1090R|KTN1_uc001xcd.2_Missense_Mutation_p.S1067R|KTN1_uc010trb.1_Missense_Mutation_p.S1090R|KTN1_uc001xcf.1_Missense_Mutation_p.S1067R|KTN1_uc010aoq.2_Missense_Mutation_p.S356R|KTN1_uc010trc.1_Missense_Mutation_p.S95R|KTN1_uc001xcg.2_Missense_Mutation_p.S51R	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	kinectin 1 isoform a	1090	Lumenal (Potential).|Potential.				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						GTCCACAGAGTTATGGTGAAT	0.313			T	RET	papillary thryoid								G	56137449	T	G	56137449	3	3	104	1	0	0	0	0	1	0	0	0	8585	1722	60	5	3404	5	KTN1	14	56137449	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	20140	56137449	51212091	4959	71573											
C14orf101	54916	broad.mit.edu	37	chr14	57083995	57083995	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcaaatttagatatttcaAaaccacttttcatgggtgtg	8	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:57083995A>C	uc001xcm.2	+	9	1158	c.1036A>C	c.(1036-1038)AAA>CAA	p.K346Q	C14orf101_uc001xcj.2_RNA|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_Intron|C14orf101_uc010trf.1_5'UTR|C14orf101_uc001xco.2_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	hypothetical protein LOC54916	346						integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)		AGATATTTCAAAACCACTTTT	0.323													C	57083995	A	C	57083995	3	2	104	1	0	0	0	0	1	0	0	0	1734	15	1	5	1070	5	C14orf101	14	57083995	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	946546	57083995	50265545	4960	71574											
C14orf101	54916	broad.mit.edu	37	chr14	57092214	57092214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctagtggaatggtcacaTttaatctttatcattttctt	5	7	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:57092214T>C	uc001xcm.2	+	12	1635	c.1513T>C	c.(1513-1515)TTT>CTT	p.F505L	C14orf101_uc001xcj.2_RNA|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_Missense_Mutation_p.F38L|C14orf101_uc001xco.2_Missense_Mutation_p.F38L	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	hypothetical protein LOC54916	505						integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)		AATGGTCACATTTAATCTTTA	0.348													C	57092214	T	C	57092214	3	2	104	1	0	0	0	0	1	0	0	0	1734	1493	52	3	1559	3	C14orf101	14	57092214	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	8219	57092214	50257326	4961	71575											
ARID4A	5926	broad.mit.edu	37	chr14	58814545	58814545	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgaacctgaggaaaatatCgattcaaacagtgaaagtga	10	5	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:58814545C>T	uc001xdp.2	+	15	1607	c.1353C>T	c.(1351-1353)ATC>ATT	p.I451I	ARID4A_uc001xdo.2_Silent_p.I451I|ARID4A_uc001xdq.2_Silent_p.I451I|ARID4A_uc010apg.1_Silent_p.I129I	NM_002892	NP_002883	P29374	ARI4A_HUMAN	retinoblastoma-binding protein 1 isoform I	451					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|lung(1)	6						AGGAAAATATCGATTCAAACA	0.313													T	58814545	C	T	58814545	2	4	104	1	0	0	0	0	0	0	0	1	919	874	31	1		1	ARID4A	14	58814545	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1722331	58814545	48534995	4962	71576											
ARID4A	5926	broad.mit.edu	37	chr14	58831856	58831856	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttagtcaagatgagtctCgaagcgtaaaaagtgagagt	11	6	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:58831856C>T	uc001xdp.2	+	20	3303	c.3049C>T	c.(3049-3051)CGA>TGA	p.R1017*	ARID4A_uc001xdo.2_Nonsense_Mutation_p.R1017*|ARID4A_uc001xdq.2_Nonsense_Mutation_p.R1017*|ARID4A_uc010apg.1_Nonsense_Mutation_p.R695*	NM_002892	NP_002883	P29374	ARI4A_HUMAN	retinoblastoma-binding protein 1 isoform I	1017					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|lung(1)	6						AGATGAGTCTCGAAGCGTAAA	0.408													T	58831856	C	T	58831856	4	4	104	1	0	0	0	0	0	1	0	0	919	876	31	1	3123	1	ARID4A	14	58831856	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	17311	58831856	48517684	4963	71577											
KIAA0586	9786	broad.mit.edu	37	chr14	58932632	58932632	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atggattctaaaatgaaacaTtctgttcctgtgttacctca	6	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:58932632T>G	uc001xdv.3	+	14	2184	c.1911T>G	c.(1909-1911)CAT>CAG	p.H637Q	KIAA0586_uc010trr.1_Missense_Mutation_p.H754Q|KIAA0586_uc001xdt.3_Missense_Mutation_p.H669Q|KIAA0586_uc001xdu.3_Missense_Mutation_p.H698Q|KIAA0586_uc010trs.1_Missense_Mutation_p.H628Q|KIAA0586_uc010trt.1_Missense_Mutation_p.H573Q|KIAA0586_uc010tru.1_Missense_Mutation_p.H573Q	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	637										ovary(1)	1						AAATGAAACATTCTGTTCCTG	0.378													G	58932632	T	G	58932632	3	3	104	1	0	0	0	0	1	0	0	0	8186	1490	52	5	1965	5	KIAA0586	14	58932632	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	100776	58932632	48416908	4964	71578											
GPR135	64582	broad.mit.edu	37	chr14	59930948	59930948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagacgatcatgatgaggaCggtggtggccgtgcgcacct	16	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:59930948C>T	uc010apj.2	-	1	1112	c.997G>A	c.(997-999)GTC>ATC	p.V333I	GPR135_uc001xed.2_RNA	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	333	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.134)		ATGATGAGGACGGTGGTGGCC	0.687													T	59930948	C	T	59930948	3	4	104	1	0	0	0	0	1	0	0	0	6644	536	19	1	491	1	GPR135	14	59930948	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	998316	59930948	47418592	4965	71579											
JKAMP	51528	broad.mit.edu	37	chr14	59965469	59965469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accattgtatttatctattaCgcattctgcttggtattaat	5	7	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:59965469C>T	uc001xei.3	+	5	1027	c.525C>T	c.(523-525)TAC>TAT	p.Y175Y	JKAMP_uc001xef.3_Silent_p.Y161Y|JKAMP_uc001xeh.3_Silent_p.Y155Y|JKAMP_uc001xeg.3_Silent_p.Y169Y|JKAMP_uc010try.1_Silent_p.Y98Y|JKAMP_uc001xej.3_Silent_p.Y98Y	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	JNK1-associated membrane protein isoform 2	176	Helical; (Potential).				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)	1						TTATCTATTACGCATTCTGCT	0.289													T	59965469	C	T	59965469	2	4	104	1	0	0	0	0	0	0	0	1	7949	547	19	1		1	JKAMP	14	59965469	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	34521	59965469	47384071	4966	71580											
RTN1	6252	broad.mit.edu	37	chr14	60063484	60063484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcagcatgcctcttagcGcctgggattttagcctgaat	9	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:60063484G>A	uc001xen.1	-	9	2519	c.2310C>T	c.(2308-2310)GGC>GGT	p.G770G	RTN1_uc001xem.1_Silent_p.G350G|RTN1_uc001xek.1_Silent_p.G202G|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Silent_p.G187G	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	770	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCCTCTTAGCGCCTGGGATTT	0.393													A	60063484	G	A	60063484	2	1	104	1	0	0	0	0	0	0	0	1	13725	1074	38	1		1	RTN1	14	60063484	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	98015	60063484	47286056	4967	71581											
DHRS7	51635	broad.mit.edu	37	chr14	60619866	60619866	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgcacagagaacgctgggAcattccaccattgttgacca	9	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:60619866A>G	uc001xes.2	-	4	608	c.424T>C	c.(424-426)TCC>CCC	p.S142P	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Missense_Mutation_p.S92P|DHRS7_uc001xeu.2_Missense_Mutation_p.S142P	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	142							binding|oxidoreductase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.121)		GAACGCTGGGACATTCCACCA	0.433													G	60619866	A	G	60619866	3	3	104	1	0	0	0	0	1	0	0	0	4495	275	10	3	611	3	DHRS7	14	60619866	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	556382	60619866	46729674	4968	71582											
C14orf39	317761	broad.mit.edu	37	chr14	60921733	60921733	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattacctgatctgatgagaTttctgtatcaaatacagaag	7	6	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:60921733T>C	uc001xez.3	-	16	1599	c.1489A>G	c.(1489-1491)ATC>GTC	p.I497V	C14orf39_uc010apo.2_Missense_Mutation_p.I208V	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	497										ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TCTGATGAGATTTCTGTATCA	0.299													C	60921733	T	C	60921733	3	2	104	1	0	0	0	0	1	0	0	0	1772	1493	52	3	286	3	C14orf39	14	60921733	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	301867	60921733	46427807	4969	71583											
C14orf39	317761	broad.mit.edu	37	chr14	60950485	60950485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctgttgcatttatagtttCgtgtatcctacaaatagtta	6	6	1	0	rs147511742		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:60950485C>T	uc001xez.3	-	4	267	c.157G>A	c.(157-159)GAA>AAA	p.E53K	C14orf39_uc010apo.2_Intron	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	53										ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TTTATAGTTTCGTGTATCCTA	0.274													T	60950485	C	T	60950485	3	4	104	1	0	0	0	0	1	0	0	0	1772	893	31	1	1666	1	C14orf39	14	60950485	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	28752	60950485	46399055	4970	71584											
SIX4	51804	broad.mit.edu	37	chr14	61180839	61180839	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgggagcaagagagctcaaGaaaacctttccttgctggac	11	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:61180839G>T	uc001xfc.2	-	3	1632	c.1632C>A	c.(1630-1632)TTC>TTA	p.F544L		NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	sine oculis homeobox homolog 4	544						nucleus				breast(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GAGAGCTCAAGAAAACCTTTC	0.433													T	61180839	G	T	61180839	3	4	104	1	0	0	0	0	1	0	0	0	14349	933	33	5	717	5	SIX4	14	61180839	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	230354	61180839	46168701	4971	71585											
HIF1A	3091	broad.mit.edu	37	chr14	62207347	62207347	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacccattttctactcaggTatatgaacttatttgtttta	5	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:62207347T>C	uc001xfq.2	+	11	2063	c.1659_splice	c.e11+2	p.Q553_splice	HIF1A_uc001xfr.2_Splice_Site_p.Q553_splice|HIF1A_uc001xfs.2_Splice_Site_p.Q554_splice	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	hypoxia-inducible factor 1, alpha subunit						cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			kidney(3)|lung(1)	4				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		TCTACTCAGGTATATGAACTT	0.289													C	62207347	T	C	62207347	5	2	104	1	0	0	0	0	0	0	1	0	7103	1652	57	3	1703	3	HIF1A	14	62207347	Splice_Site	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1026508	62207347	45142193	4972	71586											
HIF1A	3091	broad.mit.edu	37	chr14	62207893	62207893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctaacgtgttatctgtcGctttgagtcaaaggtattta	9	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:62207893G>A	uc001xfq.2	+	12	2484	c.2080G>A	c.(2080-2082)GCT>ACT	p.A694T	HIF1A_uc001xfr.2_Missense_Mutation_p.A694T|HIF1A_uc001xfs.2_Missense_Mutation_p.A695T	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	hypoxia-inducible factor 1, alpha subunit	694	ID.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			kidney(3)|lung(1)	4				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		GTTATCTGTCGCTTTGAGTCA	0.338													A	62207893	G	A	62207893	3	1	104	1	0	0	0	0	1	0	0	0	7103	1087	38	1	2126	1	HIF1A	14	62207893	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	546	62207893	45141647	4973	71587											
SYT16	83851	broad.mit.edu	37	chr14	62567180	62567180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgttgcaagacgtccattCggcgtggtcagcccaatcct	10	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:62567180C>T	uc001xfu.1	+	6	1890	c.1693C>T	c.(1693-1695)CGG>TGG	p.R565W	SYT16_uc010tse.1_Missense_Mutation_p.R123W	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	565	C2 2.									central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GACGTCCATTCGGCGTGGTCA	0.458													T	62567180	C	T	62567180	3	4	104	1	0	0	0	0	1	0	0	0	15469	875	31	1	1715	1	SYT16	14	62567180	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	359287	62567180	44782360	4974	71588											
RHOJ	57381	broad.mit.edu	37	chr14	63671620	63671620	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggaactgacagcagctgCggctgcaggggcaacgacga	17	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:63671620C>T	uc001xgb.1	+	1	476	c.33C>T	c.(31-33)TGC>TGT	p.C11C		NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN	ras homolog gene family, member J precursor	11					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		ACAGCAGCTGCGGCTGCAGGG	0.567													T	63671620	C	T	63671620	2	4	104	1	0	0	0	0	0	0	0	1	13341	776	27	1		1	RHOJ	14	63671620	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1104440	63671620	43677920	4975	71589											
PPP2R5E	5529	broad.mit.edu	37	chr14	64006376	64006376	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgtctactttatccactgAtggaggagtagttggtgctg	12	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:64006376A>G	uc001xgd.1	-	2	618	c.28T>C	c.(28-30)TCA>CCA	p.S10P	PPP2R5E_uc001xge.2_Missense_Mutation_p.S10P|PPP2R5E_uc010tsh.1_Missense_Mutation_p.S10P|PPP2R5E_uc001xgf.1_RNA|PPP2R5E_uc001xgg.3_Missense_Mutation_p.S10P	NM_006246	NP_006237	Q16537	2A5E_HUMAN	epsilon isoform of regulatory subunit B56,	10					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		TTATCCACTGATGGAGGAGTA	0.443													G	64006376	A	G	64006376	3	3	104	1	0	0	0	0	1	0	0	0	12396	333	12	3	1427	3	PPP2R5E	14	64006376	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	334756	64006376	43343164	4976	71590											
SYNE2	23224	broad.mit.edu	37	chr14	64408676	64408676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgacattcctaagaaaccGatcagtaagtataaattttt	5	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:64408676G>A	uc001xgm.2	+	5	541	c.311G>A	c.(310-312)CGA>CAA	p.R104Q	SYNE2_uc001xgk.2_Missense_Mutation_p.R104Q|SYNE2_uc001xgl.2_Missense_Mutation_p.R104Q	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	104	CH 1.|Cytoplasmic (Potential).|Actin-binding.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTAAGAAACCGATCAGTAAGT	0.338													A	64408676	G	A	64408676	3	1	104	1	0	0	0	0	1	0	0	0	15443	1058	37	1	325	1	SYNE2	14	64408676	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	402300	64408676	42940864	4977	71591											
SYNE2	23224	broad.mit.edu	37	chr14	64453263	64453263	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactcattggacaagtggaAatctgggaggcagaagccaa	12	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:64453263A>C	uc001xgm.2	+	19	2471	c.2241A>C	c.(2239-2241)GAA>GAC	p.E747D	SYNE2_uc001xgl.2_Missense_Mutation_p.E747D	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	747	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GACAAGTGGAAATCTGGGAGG	0.383													C	64453263	A	C	64453263	3	2	104	1	0	0	0	0	1	0	0	0	15443	11	1	5	2311	5	SYNE2	14	64453263	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	44587	64453263	42896277	4978	71592											
SYNE2	23224	broad.mit.edu	37	chr14	64460662	64460662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtctttagaagaaaagaGtagagatgtctgtgccaaat	11	4	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:64460662G>A	uc001xgm.2	+	22	2986	c.2756G>A	c.(2755-2757)AGT>AAT	p.S919N	SYNE2_uc001xgl.2_Missense_Mutation_p.S919N	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	919	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAGAAAAGAGTAGAGATGTC	0.264													A	64460662	G	A	64460662	3	1	104	1	0	0	0	0	1	0	0	0	15443	1029	36	4	2838	4	SYNE2	14	64460662	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	7399	64460662	42888878	4979	71593											
SYNE2	23224	broad.mit.edu	37	chr14	64461803	64461803	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatatgttcaacaactaaaAatagatattgaaaaaggaaa	5	3	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:64461803A>C	uc001xgm.2	+	23	3053	c.2823A>C	c.(2821-2823)AAA>AAC	p.K941N	SYNE2_uc001xgl.2_Missense_Mutation_p.K941N	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	941	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACAACTAAAAATAGATATTG	0.269													C	64461803	A	C	64461803	3	2	104	1	0	0	0	0	1	0	0	0	15443	11	1	5	2909	5	SYNE2	14	64461803	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1141	64461803	42887737	4980	71594											
SYNE2	23224	broad.mit.edu	37	chr14	64461861	64461861	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaacttgaaaagcaaataAataaagaaaagaaacttatc	4	4	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:64461861A>C	uc001xgm.2	+	23	3111	c.2881A>C	c.(2881-2883)AAT>CAT	p.N961H	SYNE2_uc001xgl.2_Missense_Mutation_p.N961H	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	961	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAAGCAAATAAATAAAGAAAA	0.299													C	64461861	A	C	64461861	3	2	104	1	0	0	0	0	1	0	0	0	15443	14	1	5	2967	5	SYNE2	14	64461861	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	58	64461861	42887679	4981	71595											
SYNE2	23224	broad.mit.edu	37	chr14	64473812	64473812	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctagatgaatatgaagaagaGaagagacatttacaagaaat	9	3	0	7			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:64473812G>T	uc001xgm.2	+	31	4679	c.4449G>T	c.(4447-4449)GAG>GAT	p.E1483D	SYNE2_uc001xgl.2_Missense_Mutation_p.E1483D	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1483	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATGAAGAAGAGAAGAGACATT	0.348													T	64473812	G	T	64473812	3	4	104	1	0	0	0	0	1	0	0	0	15443	933	33	5	4567	5	SYNE2	14	64473812	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	11951	64473812	42875728	4982	71596											
SYNE2	23224	broad.mit.edu	37	chr14	64542723	64542723	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatattatggaaaaactgCgaatcaagtattccgaaatg	8	5	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:64542723C>T	uc001xgm.2	+	54	11157	c.10927C>T	c.(10927-10929)CGA>TGA	p.R3643*	SYNE2_uc001xgl.2_Nonsense_Mutation_p.R3643*|SYNE2_uc010apy.2_Nonsense_Mutation_p.R5*|SYNE2_uc010apw.1_Nonsense_Mutation_p.R349*|SYNE2_uc010apx.1_Nonsense_Mutation_p.R35*	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3643	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGAAAAACTGCGAATCAAGTA	0.388													T	64542723	C	T	64542723	4	4	104	1	0	0	0	0	0	1	0	0	15443	760	27	1	11137	1	SYNE2	14	64542723	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	68911	64542723	42806817	4983	71597											
SYNE2	23224	broad.mit.edu	37	chr14	64588782	64588782	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcaaattcatagaatTtaatgctaagaaaatgtggc	6	5	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:64588782T>G	uc001xgm.2	+	69	13441	c.13211T>G	c.(13210-13212)TTT>TGT	p.F4404C	SYNE2_uc001xgl.2_Missense_Mutation_p.F4404C|SYNE2_uc010apy.2_Missense_Mutation_p.F789C|SYNE2_uc010apz.1_Missense_Mutation_p.F296C	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4404	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTCATAGAATTTAATGCTAAG	0.343													G	64588782	T	G	64588782	3	3	104	1	0	0	0	0	1	0	0	0	15443	1841	64	5	13481	5	SYNE2	14	64588782	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	46059	64588782	42760758	4984	71598											
ESR2	2100	broad.mit.edu	37	chr14	64727353	64727353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtccagcagcagctcccGcactcggggcgcgtggccgc	16	17	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:64727353G>A	uc001xha.1	-	5	1234	c.766C>T	c.(766-768)CGG>TGG	p.R256W	ESR2_uc001xgu.2_Missense_Mutation_p.R256W|ESR2_uc001xgv.2_Missense_Mutation_p.R256W|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Missense_Mutation_p.R256W|ESR2_uc001xgy.1_Missense_Mutation_p.R256W|ESR2_uc001xgz.1_Missense_Mutation_p.R256W|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Missense_Mutation_p.R256W|ESR2_uc010aqd.1_RNA	NM_001437	NP_001428	Q92731	ESR2_HUMAN	estrogen receptor beta isoform 1	256	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	AGCAGCTCCCGCACTCGGGGC	0.682													A	64727353	G	A	64727353	3	1	104	1	0	0	0	0	1	0	0	0	5257	1086	38	1	932	1	ESR2	14	64727353	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	138571	64727353	42622187	4985	71599											
MTHFD1	4522	broad.mit.edu	37	chr14	64915014	64915014	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtttggaattccagtagTagtggccgtgaatgcattca	11	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:64915014T>G	uc001xhb.2	+	23	2645	c.2258T>G	c.(2257-2259)GTA>GGA	p.V753G	MTHFD1_uc010aqf.2_Missense_Mutation_p.V809G	NM_005956	NP_005947	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase 1	753	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	ATTCCAGTAGTAGTGGCCGTG	0.393													G	64915014	T	G	64915014	3	3	104	1	0	0	0	0	1	0	0	0	9927	1638	57	5	2348	5	MTHFD1	14	64915014	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	187661	64915014	42434526	4986	71600											
C14orf50	145376	broad.mit.edu	37	chr14	65054078	65054078	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaagaaacgcatgacttTtgttcagttcaggtatgacc	10	7	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:65054078T>C	uc001xhl.1	+	10	974	c.878T>C	c.(877-879)TTT>TCT	p.F293S	C14orf50_uc001xhm.1_Missense_Mutation_p.F23S	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	hypothetical protein LOC145376	293										skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)		CGCATGACTTTTGTTCAGTTC	0.328													C	65054078	T	C	65054078	3	2	104	1	0	0	0	0	1	0	0	0	1777	1841	64	3	916	3	C14orf50	14	65054078	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	139064	65054078	42295462	4987	71601											
PLEKHG3	26030	broad.mit.edu	37	chr14	65198128	65198128	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcccgacctgaccacctAcggggagcttgtcctggagg	16	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:65198128A>G	uc001xho.1	+	8	1168	c.899A>G	c.(898-900)TAC>TGC	p.Y300C	PLEKHG3_uc001xhn.1_Missense_Mutation_p.Y244C|PLEKHG3_uc001xhp.2_Missense_Mutation_p.Y300C|PLEKHG3_uc010aqh.1_5'UTR	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	300	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CTGACCACCTACGGGGAGCTT	0.572													G	65198128	A	G	65198128	3	3	104	1	0	0	0	0	1	0	0	0	12070	391	14	3	749	3	PLEKHG3	14	65198128	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	144050	65198128	42151412	4988	71602											
RAB15	376267	broad.mit.edu	37	chr14	65417720	65417720	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagcatttgccttcccAtctggccctcgccttgcctt	8	16	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:65417720A>G	uc001xhz.2	-	4	477	c.396T>C	c.(394-396)GAT>GAC	p.D132D	FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|RAB15_uc010aqk.2_RNA	NM_198686	NP_941959	P59190	RAB15_HUMAN	RAB15, member RAS onocogene family	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			ovary(1)	1				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		TTGCCTTCCCATCTGGCCCTC	0.587													G	65417720	A	G	65417720	2	3	104	1	0	0	0	0	0	0	0	1	12901	214	8	3		3	RAB15	14	65417720	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	219592	65417720	41931820	4989	71603											
PLEKHH1	57475	broad.mit.edu	37	chr14	68040045	68040045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggggagccaggtgaagaCgtggaagaggcgctggtttg	19	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:68040045C>T	uc001xjl.1	+	12	1923	c.1781C>T	c.(1780-1782)ACG>ATG	p.T594M	PLEKHH1_uc010tsw.1_Missense_Mutation_p.T162M|PLEKHH1_uc001xjm.1_Missense_Mutation_p.T109M|PLEKHH1_uc001xjn.1_Missense_Mutation_p.T109M	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	594	PH 1.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CAGGTGAAGACGTGGAAGAGG	0.557													T	68040045	C	T	68040045	3	4	104	1	0	0	0	0	1	0	0	0	12076	536	19	1	1823	1	PLEKHH1	14	68040045	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2622325	68040045	39309495	4990	71604											
PIGH	5283	broad.mit.edu	37	chr14	68060613	68060613	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcttcacaaaatggagAtaaccaagcagacctaagag	7	9	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:68060613A>G	uc001xjr.1	-	2	334	c.237T>C	c.(235-237)TAT>TAC	p.Y79Y	PIGH_uc010tsy.1_Silent_p.Y79Y	NM_004569	NP_004560	Q14442	PIGH_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	79					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|mitochondrion|nucleolus	phosphatidylinositol N-acetylglucosaminyltransferase activity			ovary(1)	1				all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933)		CAAAATGGAGATAACCAAGCA	0.433													G	68060613	A	G	68060613	2	3	104	1	0	0	0	0	0	0	0	1	11889	340	12	3		3	PIGH	14	68060613	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	20568	68060613	39288927	4991	71605											
SFRS5	6430	broad.mit.edu	37	chr14	70235601	70235601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttagtagtcgcagacctcGaaatgatagacggtatgtga	11	6	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:70235601G>A	uc001xll.2	+	5	1735	c.284G>A	c.(283-285)CGA>CAA	p.R95Q	SFRS5_uc001xlm.2_RNA|SFRS5_uc001xln.1_Missense_Mutation_p.R95Q|SFRS5_uc001xlo.2_Missense_Mutation_p.R95Q|SFRS5_uc001xlp.2_Missense_Mutation_p.R95Q|SFRS5_uc001xlq.2_Missense_Mutation_p.R92Q	NM_006925	NP_008856	Q13243	SRSF5_HUMAN	splicing factor, arginine/serine-rich 5	95					mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding				0				all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154)		CGCAGACCTCGAAATGATAGA	0.448													A	70235601	G	A	70235601	3	1	104	1	0	0	0	0	1	0	0	0	14180	1058	37	1	294	1	SFRS5	14	70235601	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2174988	70235601	37113939	4992	71606											
SLC10A1	6554	broad.mit.edu	37	chr14	70252992	70252992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaggcatcatgccaaggGcacagaaggtggagcaggtg	18	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:70252992G>A	uc001xlr.2	-	2	523	c.389C>T	c.(388-390)GCC>GTC	p.A130V		NM_003049	NP_003040	Q14973	NTCP_HUMAN	solute carrier family 10, member 1	130	Helical; (Potential).				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(1)	1				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		CATGCCAAGGGCACAGAAGGT	0.488													A	70252992	G	A	70252992	3	1	104	1	0	0	0	0	1	0	0	0	14373	1203	42	2	676	2	SLC10A1	14	70252992	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	17391	70252992	37096548	4993	71607											
SLC8A3	6547	broad.mit.edu	37	chr14	70633946	70633946	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taagaacatgggtcaaagaaGaccttggaaataaagtcctc	9	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:70633946G>T	uc001xly.2	-	2	1948	c.1194C>A	c.(1192-1194)GTC>GTA	p.V398V	SLC8A3_uc001xlw.2_Silent_p.V398V|SLC8A3_uc001xlx.2_Silent_p.V398V|SLC8A3_uc001xlz.2_Silent_p.V398V|SLC8A3_uc010ara.2_RNA	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	398	Calx-beta 1.|Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGTCAAAGAAGACCTTGGAAA	0.512													T	70633946	G	T	70633946	2	4	104	1	0	0	0	0	0	0	0	1	14708	929	33	5		5	SLC8A3	14	70633946	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	380954	70633946	36715594	4994	71608											
ADAM21	8747	broad.mit.edu	37	chr14	70924659	70924659	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttatgaaattgaacccaTcaggcactctgccacatttg	6	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:70924659T>G	uc001xmd.2	+	1	443	c.443T>G	c.(442-444)ATC>AGC	p.I148S		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	148					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATTGAACCCATCAGGCACTCT	0.443													G	70924659	T	G	70924659	3	3	104	1	0	0	0	0	1	0	0	0	243	1435	50	5	445	5	ADAM21	14	70924659	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	290713	70924659	36424881	4995	71609											
ADAM20	8748	broad.mit.edu	37	chr14	70989418	70989418	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacgcaactttcccatcacaTttaatccttccatgttgttc	3	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:70989418T>G	uc001xme.2	-	2	2452	c.2207A>C	c.(2206-2208)AAT>ACT	p.N736T		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	686	Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TCCCATCACATTTAATCCTTC	0.428													G	70989418	T	G	70989418	3	3	104	1	0	0	0	0	1	0	0	0	242	1493	52	5	127	5	ADAM20	14	70989418	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	64759	70989418	36360122	4996	71610											
PCNX	22990	broad.mit.edu	37	chr14	71443701	71443701	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcgtcttgtctccaatgActccttcatctctattcagc	4	14	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:71443701A>G	uc001xmo.2	+	6	1093	c.647A>G	c.(646-648)GAC>GGC	p.D216G	PCNX_uc001xmn.3_Missense_Mutation_p.D216G|PCNX_uc010are.1_Missense_Mutation_p.D216G	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	216						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTCTCCAATGACTCCTTCATC	0.418													G	71443701	A	G	71443701	3	3	104	1	0	0	0	0	1	0	0	0	11591	275	10	3	669	3	PCNX	14	71443701	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	454283	71443701	35905839	4997	71611											
PCNX	22990	broad.mit.edu	37	chr14	71455316	71455316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgaggaggcagtgtcatttCgccgtgaacgcagcacattt	13	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:71455316C>T	uc001xmo.2	+	7	2790	c.2344C>T	c.(2344-2346)CGC>TGC	p.R782C	PCNX_uc001xmn.3_Missense_Mutation_p.R782C|PCNX_uc010are.1_Intron	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	782						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGTGTCATTTCGCCGTGAACG	0.557													T	71455316	C	T	71455316	3	4	104	1	0	0	0	0	1	0	0	0	11591	884	31	1	2370	1	PCNX	14	71455316	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	11615	71455316	35894224	4998	71612											
PCNX	22990	broad.mit.edu	37	chr14	71555976	71555976	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttccgtatttcttcaattCgagatgaatggatctttgct	7	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:71555976C>T	uc001xmo.2	+	30	5952	c.5506C>T	c.(5506-5508)CGA>TGA	p.R1836*	PCNX_uc010are.1_Nonsense_Mutation_p.R1725*|PCNX_uc010arf.1_Nonsense_Mutation_p.R624*	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1836						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTCTTCAATTCGAGATGAATG	0.358													T	71555976	C	T	71555976	4	4	104	1	0	0	0	0	0	1	0	0	11591	876	31	1	5624	1	PCNX	14	71555976	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	100660	71555976	35793564	4999	71613											
RGS6	9628	broad.mit.edu	37	chr14	72818878	72818878	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacagtcaagagctttctcTccaaaatccccagtgtcgtc	7	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:72818878T>G	uc001xna.3	+	3	683	c.160T>G	c.(160-162)TCC>GCC	p.S54A	RGS6_uc010ttn.1_Missense_Mutation_p.S54A|RGS6_uc001xmx.3_Missense_Mutation_p.S54A|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.S54A	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	54	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GAGCTTTCTCTCCAAAATCCC	0.448													G	72818878	T	G	72818878	3	3	104	1	0	0	0	0	1	0	0	0	13309	1551	54	5	166	5	RGS6	14	72818878	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1262902	72818878	34530662	5000	71614											
RGS6	9628	broad.mit.edu	37	chr14	72941367	72941367	+	Missense_Mutation	SNP	G	G	A													cacaacagaaatggatatccGaaaatgtcgacgtttgaaga							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:72941367G>A	uc001xna.3	+	10	1176	c.653G>A	c.(652-654)CGA>CAA	p.R218Q	RGS6_uc010ttn.1_Missense_Mutation_p.R218Q|RGS6_uc001xmx.3_Missense_Mutation_p.R218Q|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.R218Q|RGS6_uc010ttp.1_Missense_Mutation_p.R149Q|RGS6_uc001xmz.1_Missense_Mutation_p.R79Q	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	218					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ATGGATATCCGAAAATGTCGA	0.363													A	72941367	G	A	72941367	3	1	104	1	0	0	0	0	1	0	0	0	13309	1058	37	1	687	1	RGS6	14	72941367	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	122489	72941367	34408173	5001	71615	328	2									
RGS6	9628	broad.mit.edu	37	chr14	72941375	72941375	+	Nonsense_Mutation	SNP	C	C	T													aaatggatatccgaaaatgtCgacgtttgaagaatccacaa							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:72941375C>T	uc001xna.3	+	10	1184	c.661C>T	c.(661-663)CGA>TGA	p.R221*	RGS6_uc010ttn.1_Nonsense_Mutation_p.R221*|RGS6_uc001xmx.3_Nonsense_Mutation_p.R221*|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Nonsense_Mutation_p.R221*|RGS6_uc010ttp.1_Nonsense_Mutation_p.R152*|RGS6_uc001xmz.1_Nonsense_Mutation_p.R82*	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	221					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CCGAAAATGTCGACGTTTGAA	0.343													T	72941375	C	T	72941375	4	4	104	1	0	0	0	0	0	1	0	0	13309	876	31	1	695	1	RGS6	14	72941375	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	8	72941375	34408165	5002	71616	328	2									
DCAF4	26094	broad.mit.edu	37	chr14	73413857	73413857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcttcctcaccaggtgaattCggtgtgctgggcctcgctga	13	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:73413857C>T	uc001xng.2	+	8	906	c.686C>T	c.(685-687)TCG>TTG	p.S229L	DCAF4_uc001xnj.2_Missense_Mutation_p.S229L|DCAF4_uc010ttr.1_Missense_Mutation_p.S207L|DCAF4_uc001xnh.2_Missense_Mutation_p.S129L|DCAF4_uc010tts.1_Missense_Mutation_p.S168L|DCAF4_uc010ttt.1_Missense_Mutation_p.S14L|DCAF4_uc001xni.2_Intron|DCAF4_uc001xnk.2_Missense_Mutation_p.S229L	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4 isoform 1	229						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)|skin(1)	3						CAGGTGAATTCGGTGTGCTGG	0.507													T	73413857	C	T	73413857	3	4	104	1	0	0	0	0	1	0	0	0	4270	893	31	1	712	1	DCAF4	14	73413857	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	472482	73413857	33935683	5003	71617											
ZFYVE1	53349	broad.mit.edu	37	chr14	73464805	73464805	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccaggagcccttccgtatcGatcactgctactttgtgaac	8	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:73464805G>A	uc001xnm.2	-	3	1342	c.702C>T	c.(700-702)ATC>ATT	p.I234I	ZFYVE1_uc010arj.2_Silent_p.I234I	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1 isoform 1	234						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			skin(1)	1		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CTTCCGTATCGATCACTGCTA	0.542													A	73464805	G	A	73464805	2	1	104	1	0	0	0	0	0	0	0	1	17660	1048	37	1		1	ZFYVE1	14	73464805	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	50948	73464805	33884735	5004	71618											
RBM25	58517	broad.mit.edu	37	chr14	73563732	73563732	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagttttaattcgtgaatActccagtgagctaaatgccc	8	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:73563732A>C	uc001xno.2	+	7	861	c.653A>C	c.(652-654)TAC>TCC	p.Y218S	RBM25_uc001xnn.3_Missense_Mutation_p.Y218S|RBM25_uc010ttu.1_Missense_Mutation_p.Y218S|RBM25_uc001xnp.2_Missense_Mutation_p.Y13S	NM_021239	NP_067062	P49756	RBM25_HUMAN	RNA binding motif protein 25	218					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		ATTCGTGAATACTCCAGTGAG	0.418													C	73563732	A	C	73563732	3	2	104	1	0	0	0	0	1	0	0	0	13125	391	14	5	675	5	RBM25	14	73563732	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	98927	73563732	33785808	5005	71619											
PSEN1	5663	broad.mit.edu	37	chr14	73685857	73685857	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagggtttgtgccttacaTtattactccttgccattttc	6	11	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:73685857T>G	uc001xnr.2	+	12	1548	c.1264T>G	c.(1264-1266)TTA>GTA	p.L422V	PSEN1_uc001xnv.2_Missense_Mutation_p.L418V|PSEN1_uc010ark.2_Missense_Mutation_p.L418V|PSEN1_uc001xnu.2_RNA	NM_000021	NP_000012	P49768	PSN1_HUMAN	presenilin 1 isoform I-467	422	Required for interaction with CTNNB1.|Poly-Leu.|Helical; (Potential).				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		GTGCCTTACATTATTACTCCT	0.398													G	73685857	T	G	73685857	3	3	104	1	0	0	0	0	1	0	0	0	12650	1490	52	5	1302	5	PSEN1	14	73685857	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	122125	73685857	33663683	5006	71620											
PAPLN	89932	broad.mit.edu	37	chr14	73732141	73732141	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccaggccagcggatccggatGacctgccgtgccgaaggctt	14	14	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:73732141G>A	uc010ttx.1	+	22	3352	c.3189G>A	c.(3187-3189)ATG>ATA	p.M1063I	PAPLN_uc001xnw.3_Missense_Mutation_p.M1036I|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.M1047I|PAPLN_uc010arm.2_Missense_Mutation_p.M262I|PAPLN_uc010arn.2_Missense_Mutation_p.M263I	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	1063	Ig-like C2-type 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GGATCCGGATGACCTGCCGTG	0.632													A	73732141	G	A	73732141	3	1	104	1	0	0	0	0	1	0	0	0	11428	1290	45	4	3190	4	PAPLN	14	73732141	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	46284	73732141	33617399	5007	71621											
C14orf43	91748	broad.mit.edu	37	chr14	74186171	74186171	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagacccaggggcgttggActcgtggctccggaggatga	18	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:74186171A>G	uc001xot.2	-	12	3754	c.2971T>C	c.(2971-2973)TCC>CCC	p.S991P	C14orf43_uc001xos.2_Missense_Mutation_p.S256P|C14orf43_uc001xou.2_Missense_Mutation_p.S991P|C14orf43_uc010tud.1_Missense_Mutation_p.S991P|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	991					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GGGGCGTTGGACTCGTGGCTC	0.532													G	74186171	A	G	74186171	3	3	104	1	0	0	0	0	1	0	0	0	1774	275	10	3	170	3	C14orf43	14	74186171	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	454030	74186171	33163369	5008	71622											
FAM161B	145483	broad.mit.edu	37	chr14	74404367	74404367	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgcttcatttcctccagttCtttcttatattctttcgctc	3	13	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:74404367C>A	uc001xpd.1	-	7	1709	c.1603G>T	c.(1603-1605)GAA>TAA	p.E535*		NM_152445	NP_689658			hypothetical protein LOC145483											ovary(1)	1						TCCTCCAGTTCTTTCTTATAT	0.358													A	74404367	C	A	74404367	4	1	104	1	0	0	0	0	0	1	0	0	5473	922	32	5	352	5	FAM161B	14	74404367	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	218196	74404367	32945173	5009	71623											
FAM161B	145483	broad.mit.edu	37	chr14	74404379	74404379	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctccagttctttcttatattCtttcgctcttttacggtcat	4	11	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:74404379C>A	uc001xpd.1	-	7	1697	c.1591G>T	c.(1591-1593)GAA>TAA	p.E531*		NM_152445	NP_689658			hypothetical protein LOC145483											ovary(1)	1						TTCTTATATTCTTTCGCTCTT	0.358													A	74404379	C	A	74404379	4	1	104	1	0	0	0	0	0	1	0	0	5473	922	32	5	364	5	FAM161B	14	74404379	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	12	74404379	32945161	5010	71624											
YLPM1	56252	broad.mit.edu	37	chr14	75266073	75266073	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagaagaaagaaatcgagAgcatgggtatgatcgagatt	14	3	0	6			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:75266073A>G	uc001xqj.3	+	5	4197	c.4073A>G	c.(4072-4074)GAG>GGG	p.E1358G	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1163	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGAAATCGAGAGCATGGGTAT	0.473													G	75266073	A	G	75266073	3	3	104	1	0	0	0	0	1	0	0	0	17483	304	11	3	4091	3	YLPM1	14	75266073	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	861694	75266073	32083467	5011	71625											
PROX2	283571	broad.mit.edu	37	chr14	75329808	75329808	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggatccaatagtacctTttgtaataccgagtccacag	9	9	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:75329808T>G	uc001xqr.1	-	1	730	c.730A>C	c.(730-732)AAG>CAG	p.K244Q	PROX2_uc001xqq.1_Missense_Mutation_p.K170Q	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	244					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AATAGTACCTTTTGTAATACC	0.572													G	75329808	T	G	75329808	3	3	104	1	0	0	0	0	1	0	0	0	12561	1850	64	5	1064	5	PROX2	14	75329808	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	63735	75329808	32019732	5012	71626											
PROX2	283571	broad.mit.edu	37	chr14	75330161	75330161	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacacgagggccccccttcCtgttgccctggtcccaggca	10	18	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:75330161C>A	uc001xqr.1	-	1	377	c.377G>T	c.(376-378)AGG>ATG	p.R126M	PROX2_uc001xqq.1_Missense_Mutation_p.R52M	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	126					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GCCCCCCTTCCTGTTGCCCTG	0.597													A	75330161	C	A	75330161	3	1	104	1	0	0	0	0	1	0	0	0	12561	681	24	5	1417	5	PROX2	14	75330161	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	353	75330161	32019379	5013	71627											
MLH3	27030	broad.mit.edu	37	chr14	75513607	75513607	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttaaataacatacaaaaatCttgtgttaacacactgcaca	4	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:75513607C>A	uc001xrd.1	-	2	2968	c.2752G>T	c.(2752-2754)GAT>TAT	p.D918Y	MLH3_uc001xre.1_Missense_Mutation_p.D918Y|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	918					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ATACAAAAATCTTGTGTTAAC	0.348								MMR					A	75513607	C	A	75513607	3	1	104	1	0	0	0	0	1	0	0	0	9618	913	32	5	1657	5	MLH3	14	75513607	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	183446	75513607	31835933	5014	71628											
FAM164C	79696	broad.mit.edu	37	chr14	75537991	75537991	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcctgaggggaaagctgAagaagacagaggaggaactc	14	7	1	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:75537991A>C	uc001xri.2	+	2	888	c.715A>C	c.(715-717)AAG>CAG	p.K239Q	FAM164C_uc001xrh.2_Missense_Mutation_p.K239Q	NM_001042430	NP_001035895	Q53FD0	F164C_HUMAN	chromosome 14 open reading frame 140 isoform b	239	Potential.									ovary(1)	1						GGGAAAGCTGAAGAAGACAGA	0.502													C	75537991	A	C	75537991	3	2	104	1	0	0	0	0	1	0	0	0	5479	247	9	5	717	5	FAM164C	14	75537991	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	24384	75537991	31811549	5015	71629											
FOS	2353	broad.mit.edu	37	chr14	75747600	75747600	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccgacctgcctgcaagAtccctgatgacctgggcttc	9	16	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:75747600A>G	uc001xrn.2	+	4	821	c.616A>G	c.(616-618)ATC>GTC	p.I206V	FOS_uc010tva.1_Missense_Mutation_p.I170V|FOS_uc010asi.2_Missense_Mutation_p.I92V|FOS_uc001xro.2_Missense_Mutation_p.I58V	NM_005252	NP_005243	P01100	FOS_HUMAN	v-fos FBJ murine osteosarcoma viral oncogene	206					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(2)|ovary(1)	3		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		TGCCTGCAAGATCCCTGATGA	0.557													G	75747600	A	G	75747600	3	3	104	1	0	0	0	0	1	0	0	0	5985	333	12	3	630	3	FOS	14	75747600	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	209609	75747600	31601940	5016	71630											
TTLL5	23093	broad.mit.edu	37	chr14	76330084	76330084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccaggctacaggggtggTcccccagcacaagtatcacc	11	15	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:76330084T>C	uc001xrx.2	+	29	3606	c.3401T>C	c.(3400-3402)GTC>GCC	p.V1134A	TTLL5_uc010ask.1_Missense_Mutation_p.V1149A|TTLL5_uc001xrz.2_Missense_Mutation_p.V709A|TTLL5_uc001xsa.2_Missense_Mutation_p.V208A	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1134					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		ACAGGGGTGGTCCCCCAGCAC	0.532													C	76330084	T	C	76330084	3	2	104	1	0	0	0	0	1	0	0	0	16727	1667	58	3	3511	3	TTLL5	14	76330084	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	582484	76330084	31019456	5017	71631											
C14orf179	112752	broad.mit.edu	37	chr14	76549621	76549621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtgctcgcgccggagcacGaagtccgggaggtacagtgg	17	10	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:76549621G>A	uc010asm.1	+	8	530	c.496G>A	c.(496-498)GAA>AAA	p.E166K	C14orf179_uc001xsg.2_Missense_Mutation_p.E171K|C14orf179_uc010tve.1_RNA	NM_001102564	NP_001096034	Q96FT9	IFT43_HUMAN	hypothetical protein LOC112752 isoform 2	166					cilium morphogenesis|intraflagellar retrograde transport						0				BRCA - Breast invasive adenocarcinoma(234;0.0199)		GCCGGAGCACGAAGTCCGGGA	0.592													A	76549621	G	A	76549621	3	1	104	1	0	0	0	0	1	0	0	0	1762	1059	37	1	625	1	C14orf179	14	76549621	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	219537	76549621	30799919	5018	71632											
ESRRB	2103	broad.mit.edu	37	chr14	76905998	76905998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaacgccatccccaagcGcctgtgcctcgtgtgcgggg	13	16	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:76905998G>A	uc001xsq.1	+	2	369	c.302G>A	c.(301-303)CGC>CAC	p.R101H	ESRRB_uc001xsr.2_Missense_Mutation_p.R101H|ESRRB_uc001xso.2_RNA	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0213)		ATCCCCAAGCGCCTGTGCCTC	0.622													A	76905998	G	A	76905998	3	1	104	1	0	0	0	0	1	0	0	0	5261	1087	38	1	304	1	ESRRB	14	76905998	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	356377	76905998	30443542	5019	71633											
VASH1	22846	broad.mit.edu	37	chr14	77236322	77236322	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagatccccataccgagtgTgcctacgttccagccgtcta	8	16	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:77236322T>G	uc001xst.2	+	2	1256	c.326T>G	c.(325-327)GTG>GGG	p.V109G	VASH1_uc001xss.2_Missense_Mutation_p.V109G	NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	vasohibin 1	109					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		ATACCGAGTGTGCCTACGTTC	0.587													G	77236322	T	G	77236322	3	3	104	1	0	0	0	0	1	0	0	0	17122	1696	59	5	332	5	VASH1	14	77236322	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	330324	77236322	30113218	5020	71634											
KIAA1737	85457	broad.mit.edu	37	chr14	77580408	77580408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcagagcaaacataggcGctttcagaataccctagtag	11	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:77580408G>A	uc001xtd.2	+	4	1126	c.947G>A	c.(946-948)CGC>CAC	p.R316H	KIAA1737_uc001xtc.1_Missense_Mutation_p.R218H	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	KIAA1737 protein	316											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		AAACATAGGCGCTTTCAGAAT	0.473													A	77580408	G	A	77580408	3	1	104	1	0	0	0	0	1	0	0	0	8255	1087	38	1	957	1	KIAA1737	14	77580408	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	344086	77580408	29769132	5021	71635											
POMT2	29954	broad.mit.edu	37	chr14	77746389	77746389	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccaagcagatagactcggAaatctgtgtcattgacccct	9	11	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:77746389A>G	uc001xti.2	-	17	1961	c.1760T>C	c.(1759-1761)TTC>TCC	p.F587S	POMT2_uc001xth.1_Missense_Mutation_p.F285S	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	587					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		ATAGACTCGGAAATCTGTGTC	0.607													G	77746389	A	G	77746389	3	3	104	1	0	0	0	0	1	0	0	0	12246	246	9	3	512	3	POMT2	14	77746389	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	165981	77746389	29603151	5022	71636											
C14orf174	161394	broad.mit.edu	37	chr14	77844125	77844125	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggagagtttttcaaagatTtggaggcccctatggatgaa	13	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:77844125T>G	uc001xtq.1	+	1	364	c.364T>G	c.(364-366)TTG>GTG	p.L122V	TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	hypothetical protein LOC161394	122											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)		TTTCAAAGATTTGGAGGCCCC	0.468													G	77844125	T	G	77844125	3	3	104	1	0	0	0	0	1	0	0	0	1759	1838	64	5	366	5	C14orf174	14	77844125	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	97736	77844125	29505415	5023	71637											
C14orf156	81892	broad.mit.edu	37	chr14	78177209	78177209	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagaacactttgcacagttCggccatgtcagaaggtgcat	10	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:78177209C>T	uc001xue.3	+	2	156	c.126C>T	c.(124-126)TTC>TTT	p.F42F	ALKBH1_uc001xuc.1_5'Flank|ALKBH1_uc001xud.1_5'Flank	NM_031210	NP_112487	Q9GZT3	SLIRP_HUMAN	SRA stem-loop-interacting RNA-binding protein	42	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	nucleotide binding|RNA binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0276)		TTGCACAGTTCGGCCATGTCA	0.269													T	78177209	C	T	78177209	2	4	104	1	0	0	0	0	0	0	0	1	1754	883	31	1		1	C14orf156	14	78177209	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	333084	78177209	29172331	5024	71638											
SNW1	22938	broad.mit.edu	37	chr14	78198843	78198843	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaaccttccgatcagcaatGtagagggcttctgccaattt	8	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:78198843G>T	uc001xuf.2	-	9	903	c.876C>A	c.(874-876)TAC>TAA	p.Y292*	SNW1_uc010tvm.1_Nonsense_Mutation_p.Y217*|SNW1_uc010asu.2_Nonsense_Mutation_p.Y130*|SNW1_uc010tvn.1_Nonsense_Mutation_p.Y292*	NM_012245	NP_036377	Q13573	SNW1_HUMAN	SKI-interacting protein	292	SNW.				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GATCAGCAATGTAGAGGGCTT	0.358													T	78198843	G	T	78198843	4	4	104	1	0	0	0	0	0	1	0	0	14879	1372	48	5	758	5	SNW1	14	78198843	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	21634	78198843	29150697	5025	71639											
NRXN3	9369	broad.mit.edu	37	chr14	78709752	78709752	+	RNA	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtccaacaagcaggtgaatGacagcagctggcacttcctc	10	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:78709752G>T	uc001xum.1	+	2		c.1109G>T						Q9Y4C0	NRX3A_HUMAN	Homo sapiens mRNA for KIAA0743 protein, partial cds.						axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCAGGTGAATGACAGCAGCTG	0.642													T	78709752	G	T	78709752	1	4	104	0	1	0	0	0	0	0	0	0	10667	1305	45	5		5	NRXN3	14	78709752	RNA	SNP	G	TCGA-BR-8680-01A-11D-2394-08	510909	78709752	28639788	5026	71640											
NRXN3	9369	broad.mit.edu	37	chr14	79454449	79454449	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggcttcacctgtgattgttCtatgacctcttattctggaa	9	9	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:79454449C>A	uc001xun.2	+	12	2599	c.2108C>A	c.(2107-2109)TCT>TAT	p.S703Y	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.S828Y	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1076	EGF-like 3.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGTGATTGTTCTATGACCTCT	0.443													A	79454449	C	A	79454449	3	1	104	1	0	0	0	0	1	0	0	0	10667	913	32	5	2146	5	NRXN3	14	79454449	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	744697	79454449	27895091	5027	71641											
C14orf145	145508	broad.mit.edu	37	chr14	81259399	81259399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gattctggatctccttaagtCgatccaacatctgcagttgc	8	11	3	0	rs138323270		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:81259399C>T	uc001xux.2	-	13	1436	c.1265G>A	c.(1264-1266)CGA>CAA	p.R422Q	C14orf145_uc010asz.1_RNA	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	422	Potential.					centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		CTCCTTAAGTCGATCCAACAT	0.453													T	81259399	C	T	81259399	3	4	104	1	0	0	0	0	1	0	0	0	1749	884	31	1	2067	1	C14orf145	14	81259399	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1804950	81259399	26090141	5028	71642											
TSHR	7253	broad.mit.edu	37	chr14	81606118	81606118	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctggactcttaagaaacTtccactttccttgagtttcc	5	13	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:81606118T>C	uc001xvd.1	+	9	944	c.788T>C	c.(787-789)CTT>CCT	p.L263P		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	263	Extracellular (Potential).|LRR 7.				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CTTAAGAAACTTCCACTTTCC	0.488			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 						C	81606118	T	C	81606118	3	2	104	1	0	0	0	0	1	0	0	0	16619	1609	56	3	959	3	TSHR	14	81606118	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	346719	81606118	25743422	5029	71643											
FLRT2	23768	broad.mit.edu	37	chr14	86088405	86088405	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgggcttcctgtggacttgCaagagctgagagtggatgaa	15	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:86088405C>A	uc001xvr.2	+	2	1314	c.547C>A	c.(547-549)CAA>AAA	p.Q183K	FLRT2_uc010atd.2_Missense_Mutation_p.Q183K	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	183	Extracellular (Potential).|LRR 6.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGTGGACTTGCAAGAGCTGAG	0.507													A	86088405	C	A	86088405	3	1	104	1	0	0	0	0	1	0	0	0	5939	711	25	5	549	5	FLRT2	14	86088405	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4482287	86088405	21261135	5030	71644											
GALC	2581	broad.mit.edu	37	chr14	88416242	88416242	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcggatgtttttccaagttTggtataccatacctgtagct	8	8	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:88416242T>C	uc001xvt.2	-	12	1684	c.1285A>G	c.(1285-1287)AAA>GAA	p.K429E	GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Missense_Mutation_p.K403E|GALC_uc010tvy.1_Missense_Mutation_p.K406E|GALC_uc010tvz.1_Missense_Mutation_p.K373E	NM_000153	NP_000144	P54803	GALC_HUMAN	galactosylceramidase isoform a precursor	429					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity				0						TTTCCAAGTTTGGTATACCAT	0.328													C	88416242	T	C	88416242	3	2	104	1	0	0	0	0	1	0	0	0	6201	1821	63	3	796	3	GALC	14	88416242	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2327837	88416242	18933298	5031	71645											
PTPN21	11099	broad.mit.edu	37	chr14	88945316	88945316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttcccagagagaaggtccGacaccggccttttcttcaga	9	13	3	3	rs147166836	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:88945316G>A	uc001xwv.3	-	13	2790	c.2459C>T	c.(2458-2460)TCG>TTG	p.S820L	PTPN21_uc010twc.1_Missense_Mutation_p.S616L	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	820						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						GAGAAGGTCCGACACCGGCCT	0.662													A	88945316	G	A	88945316	3	1	104	1	0	0	0	0	1	0	0	0	12786	1059	37	1	1093	1	PTPN21	14	88945316	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	529074	88945316	18404224	5032	71646											
EML5	161436	broad.mit.edu	37	chr14	89087177	89087177	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cactagtaaaatgataaattCtccatttttcattccaatag	3	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:89087177C>A	uc001xxg.2	-	39	5482	c.5296G>T	c.(5296-5298)GAA>TAA	p.E1766*	EML5_uc001xxf.2_Nonsense_Mutation_p.E553*|EML5_uc001xxd.2_5'Flank|EML5_uc001xxe.2_Nonsense_Mutation_p.E115*	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	1758	WD 26.					cytoplasm|microtubule				ovary(3)	3						ATGATAAATTCTCCATTTTTC	0.388													A	89087177	C	A	89087177	4	1	104	1	0	0	0	0	0	1	0	0	5100	922	32	5	661	5	EML5	14	89087177	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	141861	89087177	18262363	5033	71647											
TDP1	55775	broad.mit.edu	37	chr14	90429695	90429695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccaaaaggcagaaaagCggttcccaggaggacctcgg	12	13	0	1	rs143839052	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:90429695C>T	uc001xxy.2	+	3	536	c.237C>T	c.(235-237)AGC>AGT	p.S79S	TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Silent_p.S79S|TDP1_uc010atn.2_Silent_p.S79S|TDP1_uc001xya.2_5'UTR|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Silent_p.S79S|TDP1_uc001xyc.1_Silent_p.S79S	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	79					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GGCAGAAAAGCGGTTCCCAGG	0.498								Repair_of_DNA-protein_crosslinks					T	90429695	C	T	90429695	2	4	104	1	0	0	0	0	0	0	0	1	15725	767	27	1		1	TDP1	14	90429695	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1342518	90429695	16919845	5034	71648											
KCNK13	56659	broad.mit.edu	37	chr14	90651298	90651298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctcagggggggtgggagCctttgcaatcatgaacaaca	13	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:90651298C>T	uc001xye.1	+	2	1620	c.1178C>T	c.(1177-1179)GCC>GTC	p.A393V		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	393	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				GGGGTGGGAGCCTTTGCAATC	0.577													T	90651298	C	T	90651298	3	4	104	1	0	0	0	0	1	0	0	0	8061	739	26	2	1184	2	KCNK13	14	90651298	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	221603	90651298	16698242	5035	71649											
CCDC88C	440193	broad.mit.edu	37	chr14	91760555	91760555	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatggtactgctccttgttCtccatgttctgctccagaag	8	12	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:91760555C>A	uc010aty.2	-	23	4173	c.4074G>T	c.(4072-4074)GAG>GAT	p.E1358D		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	1358	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				GCTCCTTGTTCTCCATGTTCT	0.547													A	91760555	C	A	91760555	3	1	104	1	0	0	0	0	1	0	0	0	2865	912	32	5	2044	5	CCDC88C	14	91760555	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1109257	91760555	15588985	5036	71650											
CCDC88C	440193	broad.mit.edu	37	chr14	91779779	91779779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcagcgcctggcgctcaGcctccagctcgcccagctca	11	20	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:91779779G>A	uc010aty.2	-	15	2480	c.2381C>T	c.(2380-2382)GCT>GTT	p.A794V		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	794	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				CTGGCGCTCAGCCTCCAGCTC	0.677													A	91779779	G	A	91779779	3	1	104	1	0	0	0	0	1	0	0	0	2865	971	34	2	3769	2	CCDC88C	14	91779779	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	19224	91779779	15569761	5037	71651											
CATSPERB	79820	broad.mit.edu	37	chr14	92088254	92088254	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcactacagtcttctctataTctgtatcttcaaacaaggcc	5	12	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:92088254T>G	uc001xzs.1	-	19	2098	c.1958A>C	c.(1957-1959)GAT>GCT	p.D653A	CATSPERB_uc010aub.1_Missense_Mutation_p.D175A	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	653					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CTTCTCTATATCTGTATCTTC	0.393													G	92088254	T	G	92088254	3	3	104	1	0	0	0	0	1	0	0	0	2691	1435	50	5	1428	5	CATSPERB	14	92088254	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	308475	92088254	15261286	5038	71652											
CATSPERB	79820	broad.mit.edu	37	chr14	92139258	92139258	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accacgctcttggtcaacaaGaaatgttagcacagttggaa	9	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:92139258G>A	uc001xzs.1	-	13	1221	c.1081C>T	c.(1081-1083)CTT>TTT	p.L361F	CATSPERB_uc010aub.1_5'Flank	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	361					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TGGTCAACAAGAAATGTTAGC	0.358													A	92139258	G	A	92139258	3	1	104	1	0	0	0	0	1	0	0	0	2691	942	33	4	2329	4	CATSPERB	14	92139258	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	51004	92139258	15210282	5039	71653											
TRIP11	9321	broad.mit.edu	37	chr14	92491676	92491676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttttgttgaagttgatttCggtaacttgtagattgctgc	10	5	0	3	rs148084609		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:92491676C>T	uc001xzy.2	-	3	1078	c.290G>A	c.(289-291)CGA>CAA	p.R97Q		NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	97	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		AAGTTGATTTCGGTAACTTGT	0.294			T	PDGFRB	AML								T	92491676	C	T	92491676	3	4	104	1	0	0	0	0	1	0	0	0	16552	884	31	1	5725	1	TRIP11	14	92491676	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	352418	92491676	14857864	5040	71654											
ATXN3	4287	broad.mit.edu	37	chr14	92530710	92530710	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catttctgacagtttctaaaGacatggtcacagctgcctga	8	10	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:92530710G>T	uc001yac.3	-	11	1109	c.1040C>A	c.(1039-1041)TCT>TAT	p.S347Y	ATXN3_uc010aug.2_Missense_Mutation_p.S332Y|ATXN3_uc001yad.3_Missense_Mutation_p.S292Y|ATXN3_uc010auh.2_Missense_Mutation_p.S281Y|ATXN3_uc001yae.3_Missense_Mutation_p.S249Y	NM_004993	NP_004984	P54252	ATX3_HUMAN	ataxin 3 reference isoform	Error:Variant_position_missing_in_P54252_after_alignment					cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		AGTTTCTAAAGACATGGTCAC	0.318													T	92530710	G	T	92530710	3	4	104	1	0	0	0	0	1	0	0	0	1213	942	33	5	49	5	ATXN3	14	92530710	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	39034	92530710	14818830	5041	71655											
CPSF2	53981	broad.mit.edu	37	chr14	92609458	92609458	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgacttggcccgtgtAcctagccctaaagttgtact	8	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:92609458A>G	uc001yah.1	+	9	1197	c.960A>G	c.(958-960)GTA>GTG	p.V320V		NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2	320					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			ovary(2)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TGGCCCGTGTACCTAGCCCTA	0.418													G	92609458	A	G	92609458	2	3	104	1	0	0	0	0	0	0	0	1	3825	378	14	3		3	CPSF2	14	92609458	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	78748	92609458	14740082	5042	71656											
GOLGA5	9950	broad.mit.edu	37	chr14	93263988	93263988	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatttcatcagcagctgataAcattcgaaatcaaaaagcca	5	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:93263988A>C	uc001yaz.1	+	2	388	c.206A>C	c.(205-207)AAC>ACC	p.N69T		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	69	Cytoplasmic (Potential).				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GCAGCTGATAACATTCGAAAT	0.388			T	RET	papillary thyroid								C	93263988	A	C	93263988	3	2	104	1	0	0	0	0	1	0	0	0	6556	43	2	5	208	5	GOLGA5	14	93263988	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	654530	93263988	14085552	5043	71657											
GOLGA5	9950	broad.mit.edu	37	chr14	93301978	93301978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggaatgtacggaaaagttCgcaaagctgctagttcaatt	10	7	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:93301978C>T	uc001yaz.1	+	11	2202	c.2020C>T	c.(2020-2022)CGC>TGC	p.R674C	GOLGA5_uc001yba.1_Missense_Mutation_p.R71C	NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	674	Cytoplasmic (Potential).				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CGGAAAAGTTCGCAAAGCTGC	0.383			T	RET	papillary thyroid								T	93301978	C	T	93301978	3	4	104	1	0	0	0	0	1	0	0	0	6556	884	31	1	2058	1	GOLGA5	14	93301978	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	37990	93301978	14047562	5044	71658											
GOLGA5	9950	broad.mit.edu	37	chr14	93303754	93303754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgcctgggaatttttctccGaagataccccatagcgcgag	10	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:93303754G>A	uc001yaz.1	+	12	2257	c.2075G>A	c.(2074-2076)CGA>CAA	p.R692Q	GOLGA5_uc001yba.1_Intron	NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	692	Cytoplasmic (Potential).				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		ATTTTTCTCCGAAGATACCCC	0.348			T	RET	papillary thyroid								A	93303754	G	A	93303754	3	1	104	1	0	0	0	0	1	0	0	0	6556	1058	37	1	2117	1	GOLGA5	14	93303754	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1776	93303754	14045786	5045	71659											
C14orf142	84520	broad.mit.edu	37	chr14	93673210	93673210	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggagccgccgccacccggTgctgcacttccccctgtacc	10	20	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:93673210T>C	uc001ybl.1	-	1	250	c.173A>G	c.(172-174)CAC>CGC	p.H58R	UBR7_uc001ybm.3_5'Flank|UBR7_uc001ybn.3_5'Flank|UBR7_uc010auq.2_5'Flank	NM_032490	NP_115879	Q9BXV9	CN142_HUMAN	hypothetical protein LOC84520	58											0		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.177)|all cancers(159;0.198)|COAD - Colon adenocarcinoma(157;0.203)		CGCCACCCGGTGCTGCACTTC	0.642											OREG0022885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	93673210	T	C	93673210	3	2	104	1	0	0	0	0	1	0	0	0	1747	1696	59	3	137	3	C14orf142	14	93673210	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	369456	93673210	13676330	5046	71660											
C14orf142	84520	broad.mit.edu	37	chr14	93673258	93673258	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaataattccgttaccatgTccttcatctgggccacgcca	7	14	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:93673258T>C	uc001ybl.1	-	1	202	c.125A>G	c.(124-126)GAC>GGC	p.D42G	UBR7_uc001ybm.3_5'Flank|UBR7_uc001ybn.3_5'Flank|UBR7_uc010auq.2_5'Flank	NM_032490	NP_115879	Q9BXV9	CN142_HUMAN	hypothetical protein LOC84520	42											0		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.177)|all cancers(159;0.198)|COAD - Colon adenocarcinoma(157;0.203)		CGTTACCATGTCCTTCATCTG	0.642											OREG0022885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	93673258	T	C	93673258	3	2	104	1	0	0	0	0	1	0	0	0	1747	1667	58	3	185	3	C14orf142	14	93673258	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	48	93673258	13676282	5047	71661											
UBR7	55148	broad.mit.edu	37	chr14	93686640	93686640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tattcctgacagatgaatacGacacagttctggcttatgaa	8	8	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:93686640G>A	uc001ybm.3	+	9	1242	c.1006G>A	c.(1006-1008)GAC>AAC	p.D336N	UBR7_uc001ybn.3_Missense_Mutation_p.D260N|UBR7_uc010auq.2_Missense_Mutation_p.D185N	NM_175748	NP_786924	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin	336							ubiquitin-protein ligase activity|zinc ion binding				0						AGATGAATACGACACAGTTCT	0.403													A	93686640	G	A	93686640	3	1	104	1	0	0	0	0	1	0	0	0	16903	1058	37	1	1040	1	UBR7	14	93686640	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13382	93686640	13662900	5048	71662											
KIAA1409	57578	broad.mit.edu	37	chr14	94071295	94071295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagctctcggtgggacacccGaacagacgccaggtgggtac	14	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:94071295G>A	uc001ybv.1	+	24	3360	c.3277G>A	c.(3277-3279)GAA>AAA	p.E1093K	KIAA1409_uc001ybs.1_Intron	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		TGGGACACCCGAACAGACGCC	0.478													A	94071295	G	A	94071295	3	1	104	1	0	0	0	0	1	0	0	0	8230	1073	37	1		1	KIAA1409	14	94071295	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	384655	94071295	13278245	5049	71663											
KIAA1409	57578	broad.mit.edu	37	chr14	94088081	94088081	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acgctctttcaaacaaaaatCtcttgatatagggaatgcag	7	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:94088081C>A	uc001ybv.1	+	28	4120	c.4037C>A	c.(4036-4038)TCT>TAT	p.S1346Y	KIAA1409_uc001ybs.1_Missense_Mutation_p.S1324Y	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1501						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		AAACAAAAATCTCTTGATATA	0.433													A	94088081	C	A	94088081	3	1	104	1	0	0	0	0	1	0	0	0	8230	913	32	5	4077	5	KIAA1409	14	94088081	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	16786	94088081	13261459	5050	71664											
FAM181A	90050	broad.mit.edu	37	chr14	94394942	94394942	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgctgaggaacccctAcagggaggaatgtcttgcta	14	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:94394942A>G	uc001ybz.1	+	3	804	c.497A>G	c.(496-498)TAC>TGC	p.Y166C	C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Missense_Mutation_p.Y104C|FAM181A_uc001yca.1_Missense_Mutation_p.Y104C	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN	hypothetical protein LOC90050	166											0						AGGAACCCCTACAGGGAGGAA	0.647													G	94394942	A	G	94394942	3	3	104	1	0	0	0	0	1	0	0	0	5508	391	14	3	503	3	FAM181A	14	94394942	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	306861	94394942	12954598	5051	71665											
ASB2	51676	broad.mit.edu	37	chr14	94405676	94405676	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgatataggcgtcgatgttCgcgccgtggtccagcagcag	15	11	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:94405676C>T	uc001ycc.1	-	6	1740	c.1251G>A	c.(1249-1251)GCG>GCA	p.A417A	ASB2_uc001ycb.1_Silent_p.A111A|ASB2_uc001ycd.2_Silent_p.A465A|ASB2_uc001yce.1_Silent_p.A363A	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box-containing protein	417	ANK 11.				intracellular signal transduction					ovary(1)|pancreas(1)	2		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CGTCGATGTTCGCGCCGTGGT	0.652													T	94405676	C	T	94405676	2	4	104	1	0	0	0	0	0	0	0	1	1023	871	31	1		1	ASB2	14	94405676	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	10734	94405676	12943864	5052	71666											
PPP4R4	57718	broad.mit.edu	37	chr14	94707088	94707091	+	Frame_Shift_Del	DEL	TTTC	TTTC	-													agcagatgaatcaattcttaTttctttatctttccatttag							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:94707088_94707091delTTTC	uc001ycs.1	+	9	1086_1089	c.932_935delTTTC	c.(931-936)ATTTCTfs	p.I311fs		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	311_312						cytoplasm|protein serine/threonine phosphatase complex	protein binding			skin(3)|upper_aerodigestive_tract(1)	4						TCAATTCTTATTTCTTTATCTTTC	0.279													-	94707091	TTTC	-	94707088	7	5	104	1	0	1	0	1	0	0	0	0	12405	1493	52	0	1039	0	PPP4R4	14	94707088	Frame_Shift_Del	DEL	TTTC	TCGA-BR-8680-01A-11D-2394-08	301412	94707088	12642452	5053	71667											
SERPINA11	256394	broad.mit.edu	37	chr14	94914614	94914614	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatctgtgaagttggcagaAaaagcaaaagctccataaag	10	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:94914614A>C	uc001ydd.1	-	2	558	c.498T>G	c.(496-498)TTT>TTG	p.F166L		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1	166					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)	1				COAD - Colon adenocarcinoma(157;0.211)		AGTTGGCAGAAAAAGCAAAAG	0.463													C	94914614	A	C	94914614	3	2	104	1	0	0	0	0	1	0	0	0	14088	11	1	5	786	5	SERPINA11	14	94914614	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	207526	94914614	12434926	5054	71668											
SERPINA9	327657	broad.mit.edu	37	chr14	94929505	94929505	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttatttgtaatcatcatcagGaaggtcctattgaaggagac	9	6	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:94929505G>A	uc001ydf.2	-	5	1394	c.1233C>T	c.(1231-1233)TTC>TTT	p.F411F	SERPINA9_uc001yde.2_Silent_p.F311F|SERPINA9_uc010avc.2_Silent_p.F262F|SERPINA9_uc001ydg.2_Silent_p.F375F	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	serine (or cysteine) proteinase inhibitor, clade	393					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			lung(1)|central_nervous_system(1)	2		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TCATCATCAGGAAGGTCCTAT	0.473													A	94929505	G	A	94929505	2	1	104	1	0	0	0	0	0	0	0	1	14095	1165	41	4		4	SERPINA9	14	94929505	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	14891	94929505	12420035	5055	71669											
SERPINA12	145264	broad.mit.edu	37	chr14	94964562	94964562	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggccagcttcttgagcagcTtaaagcctaagtccatgttc	9	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:94964562T>G	uc001ydj.2	-	3	969	c.173A>C	c.(172-174)AAG>ACG	p.K58T		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	58					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(2)|ovary(1)|lung(1)	4				COAD - Colon adenocarcinoma(157;0.235)		CTTGAGCAGCTTAAAGCCTAA	0.507													G	94964562	T	G	94964562	3	3	104	1	0	0	0	0	1	0	0	0	14089	1609	56	5	1087	5	SERPINA12	14	94964562	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	35057	94964562	12384978	5056	71670											
SERPINA4	5267	broad.mit.edu	37	chr14	95033396	95033396	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtccgggtgcccatgatgCtgcaggaccaggagcatcac	13	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:95033396C>T	uc001ydk.2	+	3	805	c.739C>T	c.(739-741)CTG>TTG	p.L247L	SERPINA4_uc010avd.2_Silent_p.L284L|SERPINA4_uc001ydl.2_Silent_p.L247L	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	247					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)|skin(1)	4				COAD - Colon adenocarcinoma(157;0.211)		GCCCATGATGCTGCAGGACCA	0.498													T	95033396	C	T	95033396	2	4	104	1	0	0	0	0	0	0	0	1	14091	796	28	2		2	SERPINA4	14	95033396	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	68834	95033396	12316144	5057	71671											
CLMN	79789	broad.mit.edu	37	chr14	95660901	95660901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagacctatgagtatgtcgtCgaaggtaaatgctggagtca	12	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:95660901C>T	uc001yef.2	-	11	2857	c.2741G>A	c.(2740-2742)CGA>CAA	p.R914Q		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	914						integral to membrane	actin binding				0				Epithelial(152;0.193)		AGTATGTCGTCGAAGGTAAAT	0.468													T	95660901	C	T	95660901	3	4	104	1	0	0	0	0	1	0	0	0	3542	884	31	1	279	1	CLMN	14	95660901	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	627505	95660901	11688639	5058	71672											
C14orf49	161176	broad.mit.edu	37	chr14	95903210	95903210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtagaagttctcattgCgatgattctaaccagcttgg	10	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:95903210C>T	uc001yei.3	-	14	2500	c.2485G>A	c.(2485-2487)GCA>ACA	p.A829T	C14orf49_uc010avi.2_Missense_Mutation_p.A824T	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	829	Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		GTTCTCATTGCGATGATTCTA	0.498													T	95903210	C	T	95903210	3	4	104	1	0	0	0	0	1	0	0	0	1776	768	27	1	458	1	C14orf49	14	95903210	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	242309	95903210	11446330	5059	71673											
GLRX5	51218	broad.mit.edu	37	chr14	96010292	96010292	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctttctccataggcattaaaGactattccaactggcccacc	5	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:96010292G>T	uc001yem.1	+	2	408	c.304G>T	c.(304-306)GAC>TAC	p.D102Y		NM_016417	NP_057501	Q86SX6	GLRX5_HUMAN	glutaredoxin 5	102	Glutaredoxin.				cell redox homeostasis|hemopoiesis	mitochondrion	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|protein disulfide oxidoreductase activity				0		all_cancers(154;0.135)		Epithelial(152;0.133)|COAD - Colon adenocarcinoma(157;0.21)|all cancers(159;0.212)		AGGCATTAAAGACTATTCCAA	0.418													T	96010292	G	T	96010292	3	4	104	1	0	0	0	0	1	0	0	0	6462	942	33	5	310	5	GLRX5	14	96010292	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	107082	96010292	11339248	5060	71674											
BDKRB1	623	broad.mit.edu	37	chr14	96730670	96730670	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcctcctaccactggctgcGatcgtcttcttcaactacca	5	16	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:96730670G>A	uc001yfh.2	+	3	859	c.651G>A	c.(649-651)GCG>GCA	p.A217A	BDKRB1_uc010avn.2_Silent_p.A217A	NM_000710	NP_000701	P46663	BKRB1_HUMAN	bradykinin receptor B1	217	Helical; Name=5; (Potential).				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			ovary(3)	3		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CACTGGCTGCGATCGTCTTCT	0.582													A	96730670	G	A	96730670	2	1	104	1	0	0	0	0	0	0	0	1	1392	1045	37	1		1	BDKRB1	14	96730670	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	720378	96730670	10618870	5061	71675											
PAPOLA	10914	broad.mit.edu	37	chr14	97010496	97010496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctttgcagggaagaatttCgcacgatgtgggtgattggg	15	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:97010496C>T	uc001yfq.2	+	15	1510	c.1300C>T	c.(1300-1302)CGC>TGC	p.R434C	PAPOLA_uc001yfr.2_Missense_Mutation_p.R434C|PAPOLA_uc010twv.1_Missense_Mutation_p.R434C|PAPOLA_uc010avp.2_Missense_Mutation_p.R184C	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	434					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		GGAAGAATTTCGCACGATGTG	0.378													T	97010496	C	T	97010496	3	4	104	1	0	0	0	0	1	0	0	0	11429	884	31	1	1358	1	PAPOLA	14	97010496	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	279826	97010496	10339044	5062	71676											
DYNC1H1	1778	broad.mit.edu	37	chr14	102481480	102481480	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtacaggacttgaaatacgcGaccttggccacagtgtcgcg	12	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:102481480G>A	uc001yks.2	+	35	7217	c.7053G>A	c.(7051-7053)GCG>GCA	p.A2351A	DYNC1H1_uc001ykt.1_5'UTR	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2351	AAA 2 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TGAAATACGCGACCTTGGCCA	0.473													A	102481480	G	A	102481480	2	1	104	1	0	0	0	0	0	0	0	1	4841	1045	37	1		1	DYNC1H1	14	102481480	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5470984	102481480	4868060	5063	71677											
WDR20	91833	broad.mit.edu	37	chr14	102676053	102676053	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggaacgcccctgtgtcctCgaatggaagatgttcccttg	12	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:102676053C>T	uc001ykz.2	+	3	1595	c.1546C>T	c.(1546-1548)CGA>TGA	p.R516*	WDR20_uc001yky.1_Nonsense_Mutation_p.R259*|WDR20_uc001yla.2_Nonsense_Mutation_p.R392*|WDR20_uc001ylb.2_Nonsense_Mutation_p.R455*|WDR20_uc010txu.1_Nonsense_Mutation_p.R547*|WDR20_uc001ylc.2_Intron|WDR20_uc001yld.2_Nonsense_Mutation_p.R516*|WDR20_uc001yle.2_Nonsense_Mutation_p.R455*|WDR20_uc001ylf.2_Nonsense_Mutation_p.R528*	NM_144574	NP_653175	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20 isoform 2	516											0						CCTGTGTCCTCGAATGGAAGA	0.433											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	102676053	C	T	102676053	4	4	104	1	0	0	0	0	0	1	0	0	17277	876	31	1	1573	1	WDR20	14	102676053	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	194573	102676053	4673487	5064	71678											
ANKRD9	122416	broad.mit.edu	37	chr14	102973383	102973383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaccagcacctgcatggCgcgcgcgaagagcgagggcg	18	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:102973383C>T	uc001ylx.1	-	2	1240	c.844G>A	c.(844-846)GCC>ACC	p.A282T	ANKRD9_uc001yly.1_Missense_Mutation_p.A282T|ANKRD9_uc001ylz.1_Missense_Mutation_p.A282T|ANKRD9_uc001yma.1_Missense_Mutation_p.A282T|ANKRD9_uc010awm.1_Missense_Mutation_p.A282T	NM_152326	NP_689539	Q96BM1	ANKR9_HUMAN	ankyrin repeat domain 9	282										pancreas(1)	1						ACCTGCATGGCGCGCGCGAAG	0.726													T	102973383	C	T	102973383	3	4	104	1	0	0	0	0	1	0	0	0	687	768	27	1	113	1	ANKRD9	14	102973383	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	297330	102973383	4376157	5065	71679											
TRAF3	7187	broad.mit.edu	37	chr14	103341991	103341991	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataattgctgcaagagagaaAttctggctcttcagatctat	8	7	4	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:103341991A>C	uc001ymc.1	+	5	681	c.328A>C	c.(328-330)ATT>CTT	p.I110L	TRAF3_uc001yme.1_Missense_Mutation_p.I110L|TRAF3_uc001ymd.1_Missense_Mutation_p.I110L|TRAF3_uc010txy.1_Missense_Mutation_p.I110L	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3 isoform 1	110					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		CAAGAGAGAAATTCTGGCTCT	0.408													C	103341991	A	C	103341991	3	2	104	1	0	0	0	0	1	0	0	0	16436	101	4	5	338	5	TRAF3	14	103341991	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	368608	103341991	4007549	5066	71680											
CDC42BPB	9578	broad.mit.edu	37	chr14	103447311	103447311	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtctctggatgaggtccttCgcttcttcagatacatccgt	9	11	3	2	rs34469943	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:103447311C>T	uc001ymi.1	-	8	1171	c.939G>A	c.(937-939)GCG>GCA	p.A313A		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	313	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGAGGTCCTTCGCTTCTTCAG	0.493													T	103447311	C	T	103447311	2	4	104	1	0	0	0	0	0	0	0	1	3073	871	31	1		1	CDC42BPB	14	103447311	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	105320	103447311	3902229	5067	71681											
CDC42BPB	9578	broad.mit.edu	37	chr14	103474857	103474857	+	Missense_Mutation	SNP	A	A	C													ttgaggattttcattgcataAattcgttcagtattcttcat							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:103474857A>C	uc001ymi.1	-	3	535	c.303T>G	c.(301-303)ATT>ATG	p.I101M		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	101	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCATTGCATAAATTCGTTCAG	0.433													C	103474857	A	C	103474857	3	2	104	1	0	0	0	0	1	0	0	0	3073	10	1	5	4972	5	CDC42BPB	14	103474857	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	27546	103474857	3874683	5068	71682	329	2									
CDC42BPB	9578	broad.mit.edu	37	chr14	103474861	103474861	+	Missense_Mutation	SNP	C	C	T													ggattttcattgcataaattCgttcagtattcttcattttg							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:103474861C>T	uc001ymi.1	-	3	531	c.299G>A	c.(298-300)CGA>CAA	p.R100Q		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	100	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGCATAAATTCGTTCAGTATT	0.433													T	103474861	C	T	103474861	3	4	104	1	0	0	0	0	1	0	0	0	3073	884	31	1	4976	1	CDC42BPB	14	103474861	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4	103474861	3874679	5069	71683	329	2									
EIF5	1983	broad.mit.edu	37	chr14	103803470	103803470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatgtcaatccaaagaaGcaaacaataggtaattcttg	7	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:103803470G>A	uc001ymq.2	+	6	867	c.345G>A	c.(343-345)AAG>AAA	p.K115K	EIF5_uc001ymr.2_Silent_p.K115K|EIF5_uc001yms.2_Silent_p.K115K|EIF5_uc001ymt.2_Silent_p.K115K|EIF5_uc001ymu.2_Silent_p.K115K|SNORA28_uc001ymv.1_5'Flank	NM_001969	NP_001960	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	115					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			pancreas(1)|breast(1)|skin(1)	3		Melanoma(154;0.155)	Epithelial(46;0.182)			ATCCAAAGAAGCAAACAATAG	0.373													A	103803470	G	A	103803470	2	1	104	1	0	0	0	0	0	0	0	1	5040	962	34	2		2	EIF5	14	103803470	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	328609	103803470	3546070	5070	71684											
MARK3	4140	broad.mit.edu	37	chr14	103871548	103871548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagactgttgaaaacaatcGgcaaggggaattttgcaaaa	10	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:103871548G>A	uc001ymz.3	+	2	853	c.187G>A	c.(187-189)GGC>AGC	p.G63S	MARK3_uc001ymx.3_Missense_Mutation_p.G63S|MARK3_uc001ymw.3_Missense_Mutation_p.G63S|MARK3_uc001yna.3_Missense_Mutation_p.G63S|MARK3_uc001ymy.3_Missense_Mutation_p.G63S|MARK3_uc010awp.2_Missense_Mutation_p.G63S	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	63	ATP (By similarity).|Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|stomach(1)	4		Melanoma(154;0.155)	Epithelial(46;0.241)			GAAAACAATCGGCAAGGGGAA	0.438													A	103871548	G	A	103871548	3	1	104	1	0	0	0	0	1	0	0	0	9314	1116	39	1	193	1	MARK3	14	103871548	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	68078	103871548	3477992	5071	71685											
XRCC3	7517	broad.mit.edu	37	chr14	104174984	104174984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgtaaaacctcctttaccGatttcagtttggctgaaata	7	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:104174984G>A	uc001yny.3	-	5	448	c.68C>T	c.(67-69)TCG>TTG	p.S23L	XRCC3_uc001ynx.3_Missense_Mutation_p.S23L|XRCC3_uc001ynz.3_Missense_Mutation_p.S23L|XRCC3_uc001yoa.3_Missense_Mutation_p.S23L|XRCC3_uc001yob.1_RNA	NM_005432	NP_005423	O43542	XRCC3_HUMAN	X-ray repair cross complementing protein 3	23					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		CTCCTTTACCGATTTCAGTTT	0.468								Direct_reversal_of_damage|Homologous_recombination					A	104174984	G	A	104174984	3	1	104	1	0	0	0	0	1	0	0	0	17451	1059	37	1	996	1	XRCC3	14	104174984	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	303436	104174984	3174556	5072	71686											
TDRD9	122402	broad.mit.edu	37	chr14	104484456	104484456	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acattcctccctatggatttCtttactataaacaactacag	3	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:104484456C>A	uc001yom.3	+	23	2389	c.2359C>A	c.(2359-2361)CTT>ATT	p.L787I	TDRD9_uc001yon.3_Missense_Mutation_p.L525I	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	787					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CTATGGATTTCTTTACTATAA	0.323													A	104484456	C	A	104484456	3	1	104	1	0	0	0	0	1	0	0	0	15733	913	32	5	2449	5	TDRD9	14	104484456	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	309472	104484456	2865084	5073	71687											
ASPG	374569	broad.mit.edu	37	chr14	104570738	104570738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacctgctgcaggagctgcGggtggccaccgagcgcggcc	17	15	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:104570738G>A	uc001yoq.1	+	8	911	c.851G>A	c.(850-852)CGG>CAG	p.R284Q	ASPG_uc001yoo.1_Missense_Mutation_p.R312Q|ASPG_uc001yop.1_Missense_Mutation_p.R284Q|ASPG_uc001yor.1_Missense_Mutation_p.R284Q	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	60 kDa lysophospholipase	284	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity				0						CAGGAGCTGCGGGTGGCCACC	0.647													A	104570738	G	A	104570738	3	1	104	1	0	0	0	0	1	0	0	0	1052	1116	39	1	881	1	ASPG	14	104570738	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	86282	104570738	2778802	5074	71688											
KIAA0284	283638	broad.mit.edu	37	chr14	105360682	105360682	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaagccaggatcaacgccgaGaacgaggtgcccatcctgaa	12	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:105360682G>A	uc010axb.2	+	17	4556	c.4332G>A	c.(4330-4332)GAG>GAA	p.E1444E	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.E1374E|KIAA0284_uc001yps.2_Silent_p.E1385E|KIAA0284_uc001ypt.2_Silent_p.E112E	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	1479						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		TCAACGCCGAGAACGAGGTGC	0.632													A	105360682	G	A	105360682	2	1	104	1	0	0	0	0	0	0	0	1	8166	933	33	4		4	KIAA0284	14	105360682	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	789944	105360682	1988858	5075	71689											
AHNAK2	113146	broad.mit.edu	37	chr14	105410777	105410777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catggaggggagactcacatCggcttccaccttgggtgcag	14	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr14:105410777C>T	uc010axc.1	-	7	11131	c.11011G>A	c.(11011-11013)GAT>AAT	p.D3671N	AHNAK2_uc001ypx.2_Missense_Mutation_p.D3571N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3671						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)			AGACTCACATCGGCTTCCACC	0.582													T	105410777	C	T	105410777	3	4	104	1	0	0	0	0	1	0	0	0	415	884	31	1	6380	1	AHNAK2	14	105410777	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	50095	105410777	1938763	5076	71690											
OR4M2	390538	broad.mit.edu	37	chr15	22369069	22369069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaggtggctctcattgttcGacttcctttctgtgggccca	10	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:22369069G>A	uc010tzu.1	+	1	494	c.494G>A	c.(493-495)CGA>CAA	p.R165Q	LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	165	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTCATTGTTCGACTTCCTTTC	0.498													A	22369069	G	A	22369069	3	1	104	1	0	0	0	0	1	0	0	0	11076	1058	37	1	496	1	OR4M2	15	22369069	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08		22369069	80162323	5077	71691											
OR4N4	283694	broad.mit.edu	37	chr15	22382966	22382966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtggtcctcatcctccGcttgcctttttgtggcccaa	9	15	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:22382966G>A	uc001yuc.1	+	7	1475	c.494G>A	c.(493-495)CGC>CAC	p.R165H	LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.R165H	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	165	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTCATCCTCCGCTTGCCTTTT	0.512													A	22382966	G	A	22382966	3	1	104	1	0	0	0	0	1	0	0	0	11078	1087	38	1	496	1	OR4N4	15	22382966	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13897	22382966	80148426	5078	71692											
TUBGCP5	114791	broad.mit.edu	37	chr15	22867565	22867565	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaccagtaagacagcagattCatcgcatgttcctcttaaga	7	10	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:22867565C>A	uc001yur.3	+	19	2771	c.2641C>A	c.(2641-2643)CAT>AAT	p.H881N	TUBGCP5_uc001yuq.2_Missense_Mutation_p.H881N	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	881					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			skin(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ACAGCAGATTCATCGCATGTT	0.443													A	22867565	C	A	22867565	3	1	104	1	0	0	0	0	1	0	0	0	16766	826	29	5	2715	5	TUBGCP5	15	22867565	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	484599	22867565	79663827	5079	71693											
NIPA2	81614	broad.mit.edu	37	chr15	23014503	23014503	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgcaaacgcatacgcagcGaagttggccacctcaccagc	11	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:23014503G>A	uc001yux.2	-	6	835	c.222C>T	c.(220-222)TTC>TTT	p.F74F	NIPA2_uc001yuy.2_Silent_p.F74F|NIPA2_uc001yuz.2_Silent_p.F74F|NIPA2_uc001yva.2_Silent_p.F55F|NIPA2_uc001yvb.2_Silent_p.F74F|NIPA2_uc010ayb.2_Silent_p.F55F	NM_030922	NP_112184	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome	74	Helical; (Potential).					early endosome|integral to membrane|plasma membrane				haematopoietic_and_lymphoid_tissue(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CATACGCAGCGAAGTTGGCCA	0.468													A	23014503	G	A	23014503	2	1	104	1	0	0	0	0	0	0	0	1	10423	1049	37	1		1	NIPA2	15	23014503	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	146938	23014503	79516889	5080	71694											
SNRPN	6638	broad.mit.edu	37	chr15	25222096	25222096	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagggcagctggtagaggaGtaccagctggtgtgccaatt	16	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:25222096G>T	uc001ywp.1	+	10	1230	c.340G>T	c.(340-342)GTA>TTA	p.V114L	SNRPN_uc001ywq.1_Missense_Mutation_p.V114L|SNRPN_uc001ywr.1_Missense_Mutation_p.V114L|SNRPN_uc001yws.1_Missense_Mutation_p.V114L|SNRPN_uc001ywt.1_Missense_Mutation_p.V114L|SNRPN_uc001ywv.1_Missense_Mutation_p.V117L|SNRPN_uc001yww.1_Missense_Mutation_p.V114L|SNRPN_uc001ywx.1_Missense_Mutation_p.V114L|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	NM_022807	NP_073718	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	114					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TGGTAGAGGAGTACCAGCTGG	0.587									Prader-Willi_syndrome				T	25222096	G	T	25222096	3	4	104	1	0	0	0	0	1	0	0	0	14870	1029	36	5	354	5	SNRPN	15	25222096	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2207593	25222096	77309296	5081	71695											
ATP10A	57194	broad.mit.edu	37	chr15	25961884	25961884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccagaacttgcctttgttCgtggctgatccggggacgtg	13	11	0	2	rs138618267	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:25961884C>T	uc010ayu.2	-	9	1875	c.1769G>A	c.(1768-1770)CGA>CAA	p.R590Q		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	590	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGCCTTTGTTCGTGGCTGATC	0.592													T	25961884	C	T	25961884	3	4	104	1	0	0	0	0	1	0	0	0	1116	884	31	1	2782	1	ATP10A	15	25961884	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	739788	25961884	76569508	5082	71696											
GABRB3	2562	broad.mit.edu	37	chr15	26866631	26866631	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagggatcccagaataggcGagccttttatctctccaata	9	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:26866631G>A	uc001zaz.2	-	4	433	c.291C>T	c.(289-291)CTC>CTT	p.L97L	GABRB3_uc010uae.1_Silent_p.L12L|GABRB3_uc001zba.2_Silent_p.L97L|GABRB3_uc001zbb.2_Silent_p.L153L|GABRB3_uc001zbc.2_RNA	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	97	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAGAATAGGCGAGCCTTTTAT	0.428													A	26866631	G	A	26866631	2	1	104	1	0	0	0	0	0	0	0	1	6168	1045	37	1		1	GABRB3	15	26866631	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	904747	26866631	75664761	5083	71697											
GABRA5	2558	broad.mit.edu	37	chr15	27114458	27114458	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccttctcttttgtatttcCatgaacttatccagtcactt	3	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:27114458C>A	uc001zbd.1	+	4	402	c.63C>A	c.(61-63)TCC>TCA	p.S21S	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	21					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTGTATTTCCATGAACTTAT	0.388													A	27114458	C	A	27114458	2	1	104	1	0	0	0	0	0	0	0	1	6164	581	21	5		5	GABRA5	15	27114458	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	247827	27114458	75416934	5084	71698											
GABRA5	2558	broad.mit.edu	37	chr15	27128679	27128679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgctgcggctggaggacGacggcaccctgctctacacc	13	15	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:27128679G>A	uc001zbd.1	+	7	811	c.472G>A	c.(472-474)GAC>AAC	p.D158N	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	158	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCTGGAGGACGACGGCACCCT	0.537													A	27128679	G	A	27128679	3	1	104	1	0	0	0	0	1	0	0	0	6164	1058	37	1	486	1	GABRA5	15	27128679	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	14221	27128679	75402713	5085	71699											
GABRG3	2567	broad.mit.edu	37	chr15	27222237	27222237	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcccaagacaccgacgtgActcttattctcaacaagttg	6	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:27222237A>G	uc001zbg.1	+	2	308	c.142A>G	c.(142-144)ACT>GCT	p.T48A	GABRG3_uc001zbf.2_Missense_Mutation_p.T48A	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma	48	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity				0		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CACCGACGTGACTCTTATTCT	0.383													G	27222237	A	G	27222237	3	3	104	1	0	0	0	0	1	0	0	0	6173	275	10	3	148	3	GABRG3	15	27222237	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	93558	27222237	75309155	5086	71700											
OCA2	4948	broad.mit.edu	37	chr15	28200318	28200318	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggtacctttttttggagttCttggatattggtctcccaat	10	7	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:28200318C>A	uc001zbh.3	-	17	1938	c.1828G>T	c.(1828-1830)GAA>TAA	p.E610*	OCA2_uc010ayv.2_Nonsense_Mutation_p.E586*	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	610	Cytoplasmic (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TTTTGGAGTTCTTGGATATTG	0.453									Oculocutaneous_Albinism				A	28200318	C	A	28200318	4	1	104	1	0	0	0	0	0	1	0	0	10815	922	32	5	720	5	OCA2	15	28200318	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	978081	28200318	74331074	5087	71701											
HERC2	8924	broad.mit.edu	37	chr15	28377829	28377829	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagctggtcctcactgtcGctgtgccccagccggccgta	11	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:28377829G>A	uc001zbj.2	-	80	12484	c.12378C>T	c.(12376-12378)AGC>AGT	p.S4126S		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4126	RCC1 16.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCTCACTGTCGCTGTGCCCCA	0.667													A	28377829	G	A	28377829	2	1	104	1	0	0	0	0	0	0	0	1	7058	1078	38	1		1	HERC2	15	28377829	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	177511	28377829	74153563	5088	71702											
HERC2	8924	broad.mit.edu	37	chr15	28386977	28386977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgtctgccattaattcacGaattttcttagccacctaaa	5	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:28386977G>A	uc001zbj.2	-	77	11822	c.11716C>T	c.(11716-11718)CGT>TGT	p.R3906C		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3906					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATTAATTCACGAATTTTCTTA	0.353													A	28386977	G	A	28386977	3	1	104	1	0	0	0	0	1	0	0	0	7058	1058	37	1	2856	1	HERC2	15	28386977	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	9148	28386977	74144415	5089	71703											
HERC2	8924	broad.mit.edu	37	chr15	28408287	28408287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcaccgcggagagcacatCcctgcccctgtccccggccc	10	20	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:28408287C>T	uc001zbj.2	-	69	10805	c.10699G>A	c.(10699-10701)GAT>AAT	p.D3567N		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3567					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAGAGCACATCCCTGCCCCTG	0.637													T	28408287	C	T	28408287	3	4	104	1	0	0	0	0	1	0	0	0	7058	855	30	4	3905	4	HERC2	15	28408287	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	21310	28408287	74123105	5090	71704											
HERC2	8924	broad.mit.edu	37	chr15	28446651	28446651	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcatcattactcaagaaaTcagctcgttttttgtacgtc	5	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:28446651T>C	uc001zbj.2	-	48	7773	c.7667A>G	c.(7666-7668)GAT>GGT	p.D2556G	HERC2_uc001zbk.1_Missense_Mutation_p.D91G	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2556					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACTCAAGAAATCAGCTCGTTT	0.358													C	28446651	T	C	28446651	3	2	104	1	0	0	0	0	1	0	0	0	7058	1435	50	3	7021	3	HERC2	15	28446651	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	38364	28446651	74084741	5091	71705											
HERC2	8924	broad.mit.edu	37	chr15	28459021	28459021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcataacttgaccgcccaggCgcaggcgaccatcgatgcct	11	15	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:28459021C>T	uc001zbj.2	-	42	6759	c.6653G>A	c.(6652-6654)CGC>CAC	p.R2218H		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2218					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACCGCCCAGGCGCAGGCGACC	0.582													T	28459021	C	T	28459021	3	4	104	1	0	0	0	0	1	0	0	0	7058	768	27	1	8059	1	HERC2	15	28459021	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	12370	28459021	74072371	5092	71706											
HERC2	8924	broad.mit.edu	37	chr15	28501325	28501325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctgcagcacggcctgggCggccgactgcacggtgctca	14	15	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:28501325C>T	uc001zbj.2	-	18	2762	c.2656G>A	c.(2656-2658)GCC>ACC	p.A886T	HERC2_uc001zbl.1_Missense_Mutation_p.A581T	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	886					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGGCCTGGGCGGCCGACTGC	0.701													T	28501325	C	T	28501325	3	4	104	1	0	0	0	0	1	0	0	0	7058	768	27	1	12152	1	HERC2	15	28501325	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	42304	28501325	74030067	5093	71707											
HERC2	8924	broad.mit.edu	37	chr15	28538116	28538116	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttcttcttcatcttttttCtctttgtcattcagatcttc	3	10	8	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:28538116C>A	uc001zbj.2	-	4	346	c.240G>T	c.(238-240)GAG>GAT	p.E80D	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	80					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATCTTTTTTCTCTTTGTCAT	0.388													A	28538116	C	A	28538116	3	1	104	1	0	0	0	0	1	0	0	0	7058	912	32	5	14624	5	HERC2	15	28538116	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	36791	28538116	73993276	5094	71708											
APBA2	321	broad.mit.edu	37	chr15	29406145	29406145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtgggccaccgcatcatcGagatcaacgggcagagcgtg	15	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:29406145G>A	uc001zck.2	+	13	2311	c.2104G>A	c.(2104-2106)GAG>AAG	p.E702K	APBA2_uc010uat.1_Missense_Mutation_p.E690K|APBA2_uc001zcl.2_Missense_Mutation_p.E690K	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	702	PDZ 2.				nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CCGCATCATCGAGATCAACGG	0.602													A	29406145	G	A	29406145	3	1	104	1	0	0	0	0	1	0	0	0	757	1059	37	1	2146	1	APBA2	15	29406145	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	868029	29406145	73125247	5095	71709											
TJP1	7082	broad.mit.edu	37	chr15	30008950	30008950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaagtatgacagctgttttCgataatattcttcatcttct	5	8	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:30008950C>T	uc001zcr.2	-	23	4542	c.4067G>A	c.(4066-4068)CGA>CAA	p.R1356Q	TJP1_uc010azl.2_Missense_Mutation_p.R1344Q|TJP1_uc001zcq.2_Missense_Mutation_p.R1280Q|TJP1_uc001zcs.2_Missense_Mutation_p.R1276Q	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1356					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CAGCTGTTTTCGATAATATTC	0.453													T	30008950	C	T	30008950	3	4	104	1	0	0	0	0	1	0	0	0	15926	884	31	1	1203	1	TJP1	15	30008950	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	602805	30008950	72522442	5096	71710											
TJP1	7082	broad.mit.edu	37	chr15	30034875	30034875	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaggtgtttgtttctcatttCtttcaactgtaacttcttcc	5	9	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:30034875C>A	uc001zcr.2	-	9	1596	c.1121G>T	c.(1120-1122)AGA>ATA	p.R374I	TJP1_uc010azl.2_Missense_Mutation_p.R362I|TJP1_uc001zcq.2_Missense_Mutation_p.R378I|TJP1_uc001zcs.2_Missense_Mutation_p.R374I	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	374					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TTTCTCATTTCTTTCAACTGT	0.378													A	30034875	C	A	30034875	3	1	104	1	0	0	0	0	1	0	0	0	15926	913	32	5	4205	5	TJP1	15	30034875	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	25925	30034875	72496517	5097	71711											
TRPM1	4308	broad.mit.edu	37	chr15	31294611	31294611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggggataggaaatagtgCcttctatatttgtcgtttcc	10	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:31294611C>T	uc001zfm.2	-	27	4354	c.4226G>A	c.(4225-4227)GGC>GAC	p.G1409D	TRPM1_uc010azy.2_Missense_Mutation_p.G1316D|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1409	Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAAATAGTGCCTTCTATATT	0.378													T	31294611	C	T	31294611	3	4	104	1	0	0	0	0	1	0	0	0	16582	739	26	2	589	2	TRPM1	15	31294611	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1259736	31294611	71236781	5098	71712											
TRPM1	4308	broad.mit.edu	37	chr15	31319267	31319267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtcataatcagctgatatCgctggaacttccacacctgg	8	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:31319267C>T	uc001zfm.2	-	25	3409	c.3281G>A	c.(3280-3282)CGA>CAA	p.R1094Q	TRPM1_uc010azy.2_Missense_Mutation_p.R1001Q|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1094	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CAGCTGATATCGCTGGAACTT	0.393													T	31319267	C	T	31319267	3	4	104	1	0	0	0	0	1	0	0	0	16582	884	31	1	1542	1	TRPM1	15	31319267	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	24656	31319267	71212125	5099	71713											
TRPM1	4308	broad.mit.edu	37	chr15	31339355	31339355	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgtaaagggtccgaaagtTtttccgagtgtagttgcagc	13	6	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:31339355T>G	uc001zfm.2	-	14	1785	c.1657A>C	c.(1657-1659)AAC>CAC	p.N553H	TRPM1_uc010azy.2_Missense_Mutation_p.N460H|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	553	Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTCCGAAAGTTTTTCCGAGTG	0.522													G	31339355	T	G	31339355	3	3	104	1	0	0	0	0	1	0	0	0	16582	1841	64	5	3210	5	TRPM1	15	31339355	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	20088	31339355	71192037	5100	71714											
TRPM1	4308	broad.mit.edu	37	chr15	31352771	31352771	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagtggggcccaaagacaaaGatctggcttcgtgctatgtc	12	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:31352771G>T	uc001zfm.2	-	10	1301	c.1173C>A	c.(1171-1173)ATC>ATA	p.I391I	TRPM1_uc010azy.2_Silent_p.I298I|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	391	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CAAAGACAAAGATCTGGCTTC	0.468													T	31352771	G	T	31352771	2	4	104	1	0	0	0	0	0	0	0	1	16582	932	33	5		5	TRPM1	15	31352771	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13416	31352771	71178621	5101	71715											
FMN1	342184	broad.mit.edu	37	chr15	33194156	33194156	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctttctgtgcaaggaggTgataccctcagaaaagacag	10	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:33194156T>G	uc001zhf.3	-	9	2794	c.2794A>C	c.(2794-2796)ACC>CCC	p.T932P		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	1155	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TGCAAGGAGGTGATACCCTCA	0.383													G	33194156	T	G	33194156	3	3	104	1	0	0	0	0	1	0	0	0	5949	1696	59	5	832	5	FMN1	15	33194156	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1841385	33194156	69337236	5102	71716											
RYR3	6263	broad.mit.edu	37	chr15	33831637	33831637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcgatgacctcatcctcGtcagcgtgtcctctgaaaga	10	12	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:33831637G>A	uc001zhi.2	+	6	590	c.520G>A	c.(520-522)GTC>ATC	p.V174I	RYR3_uc010bar.2_Missense_Mutation_p.V174I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	174	MIR 2.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTCATCCTCGTCAGCGTGTC	0.433													A	33831637	G	A	33831637	3	1	104	1	0	0	0	0	1	0	0	0	13770	1145	40	1	542	1	RYR3	15	33831637	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	637481	33831637	68699755	5103	71717											
RYR3	6263	broad.mit.edu	37	chr15	33905384	33905384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgttctttcctcaccagGccggatacccagagctgtgg	10	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:33905384G>A	uc001zhi.2	+	19	2235	c.2165G>A	c.(2164-2166)GGC>GAC	p.G722D	RYR3_uc010bar.2_Missense_Mutation_p.G722D	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	722	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCTCACCAGGCCGGATACCC	0.597													A	33905384	G	A	33905384	3	1	104	1	0	0	0	0	1	0	0	0	13770	1217	42	2	2239	2	RYR3	15	33905384	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	73747	33905384	68626008	5104	71718											
RYR3	6263	broad.mit.edu	37	chr15	33920748	33920748	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagctttggggaatgaataAaatagaacttggctggactt	12	4	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:33920748A>C	uc001zhi.2	+	21	2721	c.2651A>C	c.(2650-2652)AAA>ACA	p.K884T	RYR3_uc010bar.2_Missense_Mutation_p.K884T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	884	4 X approximate repeats.|1.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAATGAATAAAATAGAACTT	0.473													C	33920748	A	C	33920748	3	2	104	1	0	0	0	0	1	0	0	0	13770	14	1	5	2733	5	RYR3	15	33920748	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	15364	33920748	68610644	5105	71719											
RYR3	6263	broad.mit.edu	37	chr15	34072456	34072456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggcctcgctggcagctgCcataccagtggcattcctgg	12	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:34072456C>T	uc001zhi.2	+	65	9252	c.9182C>T	c.(9181-9183)GCC>GTC	p.A3061V	RYR3_uc010bar.2_Missense_Mutation_p.A3061V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3061	Helical; Name=M''; (Potential).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGGCAGCTGCCATACCAGTG	0.567													T	34072456	C	T	34072456	3	4	104	1	0	0	0	0	1	0	0	0	13770	739	26	2	9440	2	RYR3	15	34072456	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	151708	34072456	68458936	5106	71720											
RYR3	6263	broad.mit.edu	37	chr15	34113011	34113011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagacaaggaaaaaacattcGaagtaagttctcatgaagaa	8	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:34113011G>A	uc001zhi.2	+	78	10883	c.10813G>A	c.(10813-10815)GAA>AAA	p.E3605K	RYR3_uc010bar.2_Missense_Mutation_p.E3600K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3605					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAAAACATTCGAAGTAAGTTC	0.433													A	34113011	G	A	34113011	3	1	104	1	0	0	0	0	1	0	0	0	13770	1059	37	1	11123	1	RYR3	15	34113011	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	40555	34113011	68418381	5107	71721											
RYR3	6263	broad.mit.edu	37	chr15	34130137	34130137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtagaccggttccatgagCcagccaaggacatagggttt	12	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:34130137C>T	uc001zhi.2	+	89	12026	c.11956C>T	c.(11956-11958)CCA>TCA	p.P3986S	RYR3_uc010bar.2_Missense_Mutation_p.P3981S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3986					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTTCCATGAGCCAGCCAAGGA	0.453													T	34130137	C	T	34130137	3	4	104	1	0	0	0	0	1	0	0	0	13770	739	26	2	12310	2	RYR3	15	34130137	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	17126	34130137	68401255	5108	71722											
RYR3	6263	broad.mit.edu	37	chr15	34146651	34146651	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttgtttttactgacaacGtaagtactgcacctggaaaa	9	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:34146651G>A	uc001zhi.2	+	97	13930	c.13860_splice	c.e97+1	p.N4620_splice	RYR3_uc010bar.2_Splice_Site_p.N4615_splice	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3						cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TACTGACAACGTAAGTACTGC	0.403													A	34146651	G	A	34146651	5	1	104	1	0	0	0	0	0	0	1	0	13770	1159	40	1	14247	1	RYR3	15	34146651	Splice_Site	SNP	G	TCGA-BR-8680-01A-11D-2394-08	16514	34146651	68384741	5109	71723											
C15orf29	79768	broad.mit.edu	37	chr15	34445233	34445233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgcgatagatcactttacGaagtttatctgggcttttca	8	8	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:34445233G>A	uc001zhp.2	-	4	356	c.196C>T	c.(196-198)CGT>TGT	p.R66C	C15orf29_uc010ubz.1_5'UTR|C15orf29_uc010uca.1_Missense_Mutation_p.R66C	NM_024713	NP_078989	Q9H079	CO029_HUMAN	hypothetical protein LOC79768	66						nucleolus				ovary(1)	1		all_lung(180;1.86e-06)		all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229)		ATCACTTTACGAAGTTTATCT	0.348													A	34445233	G	A	34445233	3	1	104	1	0	0	0	0	1	0	0	0	1789	1058	37	1	746	1	C15orf29	15	34445233	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	298582	34445233	68086159	5110	71724											
SLC12A6	9990	broad.mit.edu	37	chr15	34628879	34628879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggtttctggaggatgCattttgttctttttaagaac	12	4	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:34628879C>T	uc001zhw.2	-	1	167	c.3G>A	c.(1-3)ATG>ATA	p.M1I	SLC12A6_uc001zhx.2_Missense_Mutation_p.M1I|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Intron|SLC12A6_uc001zib.2_Intron|SLC12A6_uc001zic.2_Missense_Mutation_p.M1I|SLC12A6_uc010bau.2_Missense_Mutation_p.M1I|SLC12A6_uc001zid.2_Intron	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	1	Cytoplasmic (Potential).				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTGGAGGATGCATTTTGTTCT	0.433													T	34628879	C	T	34628879	3	4	104	1	0	0	0	0	1	0	0	0	14387	710	25	2	3671	2	SLC12A6	15	34628879	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	183646	34628879	67902513	5111	71725											
GJD2	57369	broad.mit.edu	37	chr15	35045244	35045244	+	Frame_Shift_Del	DEL	C	C	-													ctcgtttgcccccaccactgCccccacccccagttcctcca							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:35045243_35045243GC>G	uc001zis.1	-	1	402	c.402_402GC>C	c.(400-402)ggcfs	p.G134fs	AK092087_uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.	134	Poly-Gly.				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CCCCACCACTGCCCCCACCCC	0.557													-	35045244	C	-	35045244	7	5	104	1	0	1	0	1	0	0	0	0	6417	739	26	0	568	0	GJD2	15	35045244	Frame_Shift_Del	DEL	C	TCGA-BR-8680-01A-11D-2394-08	416365	35045244	67486148	5112	71726											
AQR	9716	broad.mit.edu	37	chr15	35236561	35236561	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaaattcaccatcagtTtcagctaatgccgccttcaa	6	11	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:35236561T>G	uc001ziv.2	-	6	580	c.399A>C	c.(397-399)GAA>GAC	p.E133D		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	133						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CACCATCAGTTTCAGCTAATG	0.318													G	35236561	T	G	35236561	3	3	104	1	0	0	0	0	1	0	0	0	835	1838	64	5	4178	5	AQR	15	35236561	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	191317	35236561	67294831	5113	71727											
SPRED1	161742	broad.mit.edu	37	chr15	38617009	38617009	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggggcagatgacttacAagtaagtaatggcttggaag	14	4	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:38617009A>C	uc001zka.3	+	4	757	c.422A>C	c.(421-423)CAA>CCA	p.Q141P		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	141					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GATGACTTACAAGTAAGTAAT	0.313									Legius_syndrome				C	38617009	A	C	38617009	3	2	104	1	0	0	0	0	1	0	0	0	15091	144	5	5	436	5	SPRED1	15	38617009	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	3380448	38617009	63914383	5114	71728											
C15orf54	400360	broad.mit.edu	37	chr15	39544598	39544598	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaaatcatccaacagatgTccctttcaaataagttggag	6	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:39544598T>C	uc001zkg.2	+	2	630	c.262T>C	c.(262-264)TCC>CCC	p.S88P		NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	hypothetical protein LOC400360	88											0		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		CCAACAGATGTCCCTTTCAAA	0.433													C	39544598	T	C	39544598	3	2	104	1	0	0	0	0	1	0	0	0	1802	1667	58	3	264	3	C15orf54	15	39544598	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	927589	39544598	62986794	5115	71729											
THBS1	7057	broad.mit.edu	37	chr15	39882122	39882122	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgcgagtgcaagcctggCtacgctggcaatggcatcat	13	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:39882122C>T	uc001zkh.2	+	13	2222	c.2043C>T	c.(2041-2043)GGC>GGT	p.G681G	THBS1_uc010bbi.2_Silent_p.G153G	NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	681	EGF-like 3.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GCAAGCCTGGCTACGCTGGCA	0.592													T	39882122	C	T	39882122	2	4	104	1	0	0	0	0	0	0	0	1	15850	784	28	2		2	THBS1	15	39882122	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	337524	39882122	62649270	5116	71730											
FSIP1	161835	broad.mit.edu	37	chr15	40057945	40057945	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taattcttttaatttgggttCatctatattgtgttgaaagt	7	3	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:40057945C>A	uc001zki.2	-	4	531	c.313G>T	c.(313-315)GAA>TAA	p.E105*		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	105	Potential.									ovary(2)|skin(1)	3		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AATTTGGGTTCATCTATATTG	0.254													A	40057945	C	A	40057945	4	1	104	1	0	0	0	0	0	1	0	0	6074	835	29	5	1468	5	FSIP1	15	40057945	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	175823	40057945	62473447	5117	71731											
EIF2AK4	440275	broad.mit.edu	37	chr15	40280268	40280268	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagactctggaggctttttCgagagattctggatggatta	12	6	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:40280268C>T	uc001zkm.1	+	15	2538	c.2488C>T	c.(2488-2490)CGA>TGA	p.R830*	EIF2AK4_uc010bbj.1_Nonsense_Mutation_p.R531*	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	830	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GAGGCTTTTTCGAGAGATTCT	0.378													T	40280268	C	T	40280268	4	4	104	1	0	0	0	0	0	1	0	0	4999	876	31	1	2546	1	EIF2AK4	15	40280268	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	222323	40280268	62251124	5118	71732											
BUB1B	701	broad.mit.edu	37	chr15	40462836	40462836	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagcactacaaggagaaaAacgatattatagtgatcctc	8	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:40462836A>C	uc001zkx.3	+	4	550	c.338A>C	c.(337-339)AAA>ACA	p.K113T		NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	113	BUB1 N-terminal.|Nuclear localization signal (Potential).				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|kidney(1)	4		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CAAGGAGAAAAACGATATTAT	0.363			Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome				C	40462836	A	C	40462836	3	2	104	1	0	0	0	0	1	0	0	0	1571	14	1	5	352	5	BUB1B	15	40462836	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	182568	40462836	62068556	5119	71733											
BUB1B	701	broad.mit.edu	37	chr15	40504751	40504751	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atatcaacctcaagttaaagGaacgtttaaatgaagatttt	6	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:40504751G>T	uc001zkx.3	+	19	2649	c.2437G>T	c.(2437-2439)GAA>TAA	p.E813*		NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	813	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|kidney(1)	4		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CAAGTTAAAGGAACGTTTAAA	0.323			Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome				T	40504751	G	T	40504751	4	4	104	1	0	0	0	0	0	1	0	0	1571	1175	41	5	2511	5	BUB1B	15	40504751	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	41915	40504751	62026641	5120	71734											
PAK6	56924	broad.mit.edu	37	chr15	40564537	40564537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcagccctctgaccacttCggataccagcagcccccaga	7	18	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:40564537C>T	uc010bbl.2	+	6	1411	c.971C>T	c.(970-972)TCG>TTG	p.S324L	PAK6_uc010bbm.2_Missense_Mutation_p.S324L|PAK6_uc001zky.3_Missense_Mutation_p.S324L|PAK6_uc010bbn.2_Missense_Mutation_p.S324L|PAK6_uc001zlb.2_Missense_Mutation_p.S324L	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	324	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(5)|large_intestine(1)|ovary(1)|skin(1)	8		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CTGACCACTTCGGATACCAGC	0.697													T	40564537	C	T	40564537	3	4	104	1	0	0	0	0	1	0	0	0	11404	893	31	1	981	1	PAK6	15	40564537	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	59786	40564537	61966855	5121	71735											
C15orf23	90417	broad.mit.edu	37	chr15	40684192	40684192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagctgaagctttttaacGaaacagccaaaaagcagatg	10	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:40684192G>A	uc001zll.2	+	8	905	c.790G>A	c.(790-792)GAA>AAA	p.E264K	C15orf23_uc010ucp.1_Missense_Mutation_p.E264K|C15orf23_uc001zlo.2_3'UTR|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	TRAF4 associated factor 1 isoform a	264	Potential.					nucleus	protein binding			ovary(1)|skin(1)	2		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		GCTTTTTAACGAAACAGCCAA	0.403													A	40684192	G	A	40684192	3	1	104	1	0	0	0	0	1	0	0	0	1785	1059	37	1	820	1	C15orf23	15	40684192	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	119655	40684192	61847200	5122	71736											
CASC5	57082	broad.mit.edu	37	chr15	40913959	40913959	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaatagataatcaaattttTaaacaagatcaatcaaatgt	4	5	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:40913959T>A	uc010bbs.1	+	11	1736	c.1575T>A	c.(1573-1575)TTT>TTA	p.F525L	CASC5_uc010ucq.1_Missense_Mutation_p.F349L|CASC5_uc001zme.2_Missense_Mutation_p.F499L|CASC5_uc010bbt.1_Missense_Mutation_p.F499L	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	525	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ATCAAATTTTTAAACAAGATC	0.368													A	40913959	T	A	40913959	3	1	104	1	0	0	0	0	1	0	0	0	2663	1751	61	5	1613	5	CASC5	15	40913959	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	229767	40913959	61617433	5123	71737											
CASC5	57082	broad.mit.edu	37	chr15	40914552	40914552	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgggaacaatctttgttttCtaccacaaagccattatttt	5	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:40914552C>A	uc010bbs.1	+	11	2329	c.2168C>A	c.(2167-2169)TCT>TAT	p.S723Y	CASC5_uc010ucq.1_Missense_Mutation_p.S547Y|CASC5_uc001zme.2_Missense_Mutation_p.S697Y|CASC5_uc010bbt.1_Missense_Mutation_p.S697Y	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	723	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TCTTTGTTTTCTACCACAAAG	0.343													A	40914552	C	A	40914552	3	1	104	1	0	0	0	0	1	0	0	0	2663	913	32	5	2206	5	CASC5	15	40914552	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	593	40914552	61616840	5124	71738											
CASC5	57082	broad.mit.edu	37	chr15	40916289	40916289	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgcaagttgaaagctgtcAgttaaataatagagatagaa	10	4	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:40916289A>G	uc010bbs.1	+	11	4066	c.3905A>G	c.(3904-3906)CAG>CGG	p.Q1302R	CASC5_uc010ucq.1_Missense_Mutation_p.Q1126R|CASC5_uc001zme.2_Missense_Mutation_p.Q1276R|CASC5_uc010bbt.1_Missense_Mutation_p.Q1276R	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	1302					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GAAAGCTGTCAGTTAAATAAT	0.363													G	40916289	A	G	40916289	3	3	104	1	0	0	0	0	1	0	0	0	2663	188	7	3	3943	3	CASC5	15	40916289	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1737	40916289	61615103	5125	71739											
FAM82A2	55177	broad.mit.edu	37	chr15	41043667	41043667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacgtggctcccgaggaggCcgtgaagtagacagagctgg	17	9	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:41043667C>T	uc001zmo.1	-	4	625	c.481G>A	c.(481-483)GCC>ACC	p.A161T	FAM82A2_uc001zmp.1_Missense_Mutation_p.A161T|FAM82A2_uc001zmq.1_Missense_Mutation_p.A161T	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN	family with sequence similarity 82, member A2	161					apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding				0						CCCGAGGAGGCCGTGAAGTAG	0.557													T	41043667	C	T	41043667	3	4	104	1	0	0	0	0	1	0	0	0	5631	739	26	2	971	2	FAM82A2	15	41043667	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	127378	41043667	61487725	5126	71740											
INO80	54617	broad.mit.edu	37	chr15	41387799	41387799	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccctgctttatctcttacCtttagccactttctgctttt	3	14	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:41387799C>T	uc001zni.2	-	4	594	c.381G>A	c.(379-381)AAG>AAA	p.K127K	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	127	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						TATCTCTTACCTTTAGCCACT	0.308													T	41387799	C	T	41387799	2	4	104	1	0	0	0	0	0	0	0	1	7746	695	24	4		4	INO80	15	41387799	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	344132	41387799	61143593	5127	71741											
CHP	11261	broad.mit.edu	37	chr15	41554990	41554990	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccgtggattcatgcgaacTttggctcatttccgccccat	8	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:41554990T>G	uc001znl.2	+	4	402	c.258T>G	c.(256-258)ACT>ACG	p.T86T		NM_007236	NP_009167	Q99653	CHP1_HUMAN	calcium binding protein P22	86	EF-hand 2.				potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity			ovary(1)	1		all_cancers(109;1.19e-18)|all_epithelial(112;5.87e-16)|Lung NSC(122;8.86e-12)|all_lung(180;2.47e-10)|Melanoma(134;0.0574)|Colorectal(260;0.0946)|Ovarian(310;0.143)		GBM - Glioblastoma multiforme(113;1.68e-06)|LUSC - Lung squamous cell carcinoma(244;0.008)|Lung(196;0.00802)|BRCA - Breast invasive adenocarcinoma(123;0.169)		TCATGCGAACTTTGGCTCATT	0.423													G	41554990	T	G	41554990	2	3	104	1	0	0	0	0	0	0	0	1	3366	1596	56	5		5	CHP	15	41554990	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	167191	41554990	60976402	5128	71742											
LTK	4058	broad.mit.edu	37	chr15	41797252	41797252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagcaggcagttccgggCggcaatatccctacagagta	12	12	1	1	rs145997165		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:41797252C>T	uc001zoa.3	-	16	2114	c.1936G>A	c.(1936-1938)GCC>ACC	p.A646T	LTK_uc001zob.3_Missense_Mutation_p.A585T|LTK_uc010ucx.1_Missense_Mutation_p.A516T|LTK_uc010bcg.2_Missense_Mutation_p.A344T	NM_002344	NP_002335	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase isoform 1	646	Protein kinase.|Cytoplasmic (Potential).				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|central_nervous_system(1)	7		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CAGTTCCGGGCGGCAATATCC	0.527										TSP Lung(18;0.14)			T	41797252	C	T	41797252	3	4	104	1	0	0	0	0	1	0	0	0	9080	768	27	1	678	1	LTK	15	41797252	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	242262	41797252	60734140	5129	71743											
MGA	23269	broad.mit.edu	37	chr15	42021440	42021440	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgagttcgagtatatgagCgaaaaaaagaggaccagaga	12	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:42021440C>T	uc010ucy.1	+	11	3917	c.3736C>T	c.(3736-3738)CGA>TGA	p.R1246*	MGA_uc010ucz.1_Nonsense_Mutation_p.R1246*	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	1246						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGTATATGAGCGAAAAAAAGA	0.408													T	42021440	C	T	42021440	4	4	104	1	0	0	0	0	0	1	0	0	9540	760	27	1	3774	1	MGA	15	42021440	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	224188	42021440	60509952	5130	71744											
PLA2G4F	255189	broad.mit.edu	37	chr15	42442027	42442027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaggtcaaagccaaggcGtaggtctaggtccccggagc	15	10	2	1	rs144191503		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:42442027G>A	uc001zoz.2	-	11	1006	c.943C>T	c.(943-945)CGC>TGC	p.R315C	PLA2G4F_uc001zoy.2_5'Flank|PLA2G4F_uc010bcr.2_Missense_Mutation_p.R66C|PLA2G4F_uc001zpa.2_Missense_Mutation_p.R66C|PLA2G4F_uc010bcs.2_Missense_Mutation_p.R102C	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	315	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			ovary(4)	4		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AAGCCAAGGCGTAGGTCTAGG	0.637													A	42442027	G	A	42442027	3	1	104	1	0	0	0	0	1	0	0	0	12006	1145	40	1	1646	1	PLA2G4F	15	42442027	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	420587	42442027	60089365	5131	71745											
PLA2G4F	255189	broad.mit.edu	37	chr15	42442820	42442820	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcacctgcacagctgccaGcagctccatcagctccacgt	7	18	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:42442820G>A	uc001zoz.2	-	8	820	c.757C>T	c.(757-759)CTG>TTG	p.L253L	PLA2G4F_uc001zoy.2_5'Flank|PLA2G4F_uc010bcr.2_Silent_p.L4L|PLA2G4F_uc001zpa.2_Silent_p.L4L|PLA2G4F_uc010bcs.2_Silent_p.L40L	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	253					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			ovary(4)	4		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		ACAGCTGCCAGCAGCTCCATC	0.632													A	42442820	G	A	42442820	2	1	104	1	0	0	0	0	0	0	0	1	12006	962	34	2		2	PLA2G4F	15	42442820	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	793	42442820	60088572	5132	71746											
CAPN3	825	broad.mit.edu	37	chr15	42691806	42691806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtctgtgaacgagggccGctgggtacggggttgctctg	18	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:42691806G>A	uc001zpn.1	+	10	1616	c.1310G>A	c.(1309-1311)CGC>CAC	p.R437H	CAPN3_uc001zpk.1_Missense_Mutation_p.R210H|CAPN3_uc001zpl.1_Missense_Mutation_p.R350H|CAPN3_uc010udf.1_Missense_Mutation_p.R350H|CAPN3_uc010udg.1_Missense_Mutation_p.R302H|CAPN3_uc001zpo.1_Missense_Mutation_p.R437H|CAPN3_uc001zpp.1_Missense_Mutation_p.R389H|CAPN3_uc001zpq.1_5'Flank	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	437	Domain III.		R -> C (in LGMD2A).		muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AACGAGGGCCGCTGGGTACGG	0.567													A	42691806	G	A	42691806	3	1	104	1	0	0	0	0	1	0	0	0	2628	1087	38	1	1400	1	CAPN3	15	42691806	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	248986	42691806	59839586	5133	71747											
TTBK2	146057	broad.mit.edu	37	chr15	43044235	43044235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgaggaaagaactgagacGaagttgagctattgacctga	13	7	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:43044235G>A	uc001zqo.2	-	14	3648	c.3209C>T	c.(3208-3210)TCG>TTG	p.S1070L	TTBK2_uc010bcy.2_Missense_Mutation_p.S1001L	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1070					cell death		ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GAACTGAGACGAAGTTGAGCT	0.498													A	43044235	G	A	43044235	3	1	104	1	0	0	0	0	1	0	0	0	16674	1059	37	1	533	1	TTBK2	15	43044235	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	352429	43044235	59487157	5134	71748											
TTBK2	146057	broad.mit.edu	37	chr15	43044613	43044613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgtgctaaaacagggattCggctgtgtctagttacaaag	11	7	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:43044613C>T	uc001zqo.2	-	14	3270	c.2831G>A	c.(2830-2832)CGA>CAA	p.R944Q	TTBK2_uc010bcy.2_Missense_Mutation_p.R875Q	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	944					cell death		ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AACAGGGATTCGGCTGTGTCT	0.433													T	43044613	C	T	43044613	3	4	104	1	0	0	0	0	1	0	0	0	16674	884	31	1	911	1	TTBK2	15	43044613	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	378	43044613	59486779	5135	71749											
EPB42	2038	broad.mit.edu	37	chr15	43508531	43508531	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacggactggagcgcggaagTacaggatgatggtgaagggc	18	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:43508531T>C	uc001zra.3	-	2	431	c.131A>G	c.(130-132)TAC>TGC	p.Y44C	EPB42_uc010bde.2_5'UTR|EPB42_uc001zrb.3_Missense_Mutation_p.Y74C|EPB42_uc010udm.1_Missense_Mutation_p.Y44C	NM_001114134	NP_001107606	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2 isoform 2	44					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			ovary(2)	2		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		AGCGCGGAAGTACAGGATGAT	0.582													C	43508531	T	C	43508531	3	2	104	1	0	0	0	0	1	0	0	0	5158	1638	57	3	1992	3	EPB42	15	43508531	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	463918	43508531	59022861	5136	71750											
TGM7	116179	broad.mit.edu	37	chr15	43584953	43584953	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaaagttcccagcgggtaAgtcacactgtgaccttggcc	11	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:43584953A>C	uc001zrf.1	-	3	398	c.393T>G	c.(391-393)ACT>ACG	p.T131T		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	131					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CCAGCGGGTAAGTCACACTGT	0.483													C	43584953	A	C	43584953	2	2	104	1	0	0	0	0	0	0	0	1	15832	59	3	5		5	TGM7	15	43584953	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	76422	43584953	58946439	5137	71751											
LCMT2	9836	broad.mit.edu	37	chr15	43620802	43620802	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggcacatatgttgtgtcaAtctgatactcagagctcaat	8	8	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:43620802A>C	uc001zrg.2	-	1	2090	c.1886T>G	c.(1885-1887)ATT>AGT	p.I629S	LCMT2_uc010udn.1_Missense_Mutation_p.I208S|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	629					tRNA processing		methyltransferase activity|protein binding				0		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TGTTGTGTCAATCTGATACTC	0.458													C	43620802	A	C	43620802	3	2	104	1	0	0	0	0	1	0	0	0	8679	101	4	5	178	5	LCMT2	15	43620802	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	35849	43620802	58910590	5138	71752											
CKMT1A	548596	broad.mit.edu	37	chr15	43988539	43988539	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catgaagagagtgtttgaaaGattctgccgaggcctcaaag	12	7	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:43988539G>T	uc001zsn.2	+	7	1246	c.854G>T	c.(853-855)AGA>ATA	p.R285I	CKMT1A_uc010uea.1_Missense_Mutation_p.R316I|CKMT1A_uc010ueb.1_RNA|CKMT1A_uc010bdo.2_Missense_Mutation_p.R126I|CKMT1A_uc001zso.3_Missense_Mutation_p.R285I	NM_001015001	NP_001015001	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A precursor	285	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	GTGTTTGAAAGATTCTGCCGA	0.433													T	43988539	G	T	43988539	3	4	104	1	0	0	0	0	1	0	0	0	3449	942	33	5	876	5	CKMT1A	15	43988539	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	367737	43988539	58542853	5139	71753											
CTDSPL2	51496	broad.mit.edu	37	chr15	44811443	44811443	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taaatattcttggaagagatCtttcaaaaactataataatt	4	4	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:44811443C>A	uc001ztr.2	+	11	1605	c.1189C>A	c.(1189-1191)CTT>ATT	p.L397I	CTDSPL2_uc001zts.2_Missense_Mutation_p.L397I|CTDSPL2_uc001ztt.2_Missense_Mutation_p.L397I|CTDSPL2_uc010bdv.2_Missense_Mutation_p.L325I	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	397	FCP1 homology.						phosphoprotein phosphatase activity				0		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		TGGAAGAGATCTTTCAAAAAC	0.308													A	44811443	C	A	44811443	3	1	104	1	0	0	0	0	1	0	0	0	4006	913	32	5	1227	5	CTDSPL2	15	44811443	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	822904	44811443	57719949	5140	71754											
SPG11	80208	broad.mit.edu	37	chr15	44944095	44944095	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaacctccagtttggagttCtttattgtttcattcaatga	7	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:44944095C>T	uc001ztx.2	-	6	1081	c.1050G>A	c.(1048-1050)AAG>AAA	p.K350K	SPG11_uc010ueh.1_Silent_p.K350K|SPG11_uc010uei.1_Silent_p.K350K|SPG11_uc001zua.1_Silent_p.K350K	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	350	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GTTTGGAGTTCTTTATTGTTT	0.403													T	44944095	C	T	44944095	2	4	104	1	0	0	0	0	0	0	0	1	15040	912	32	4		4	SPG11	15	44944095	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	132652	44944095	57587297	5141	71755											
TRIM69	140691	broad.mit.edu	37	chr15	45059668	45059668	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttgtcagagaatccatcattCggaagggcagctgtcctcta	10	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:45059668C>A	uc001zuf.2	+	8	2096	c.1201C>A	c.(1201-1203)CGG>AGG	p.R401R	TRIM69_uc001zui.1_Silent_p.R197R|TRIM69_uc010bdy.1_Silent_p.R180R|TRIM69_uc001zug.1_Silent_p.R401R|TRIM69_uc001zuh.1_Silent_p.R242R	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	tripartite motif-containing 69 isoform a	401	B30.2/SPRY.				apoptosis	nuclear speck	zinc ion binding				0		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		ATCCATCATTCGGAAGGGCAG	0.458													A	45059668	C	A	45059668	2	1	104	1	0	0	0	0	0	0	0	1	16539	875	31	5		5	TRIM69	15	45059668	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	115573	45059668	57471724	5142	71756											
SORD	6652	broad.mit.edu	37	chr15	45365719	45365719	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagtgtgaccccagtgaccaGaatccctgatgttaatgggc	11	10	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:45365719G>T	uc001zul.3	+	9	1206	c.1065G>T	c.(1063-1065)CAG>CAT	p.Q355H	SORD_uc001zum.3_3'UTR|SORD_uc010bdz.2_Missense_Mutation_p.Q276H	NM_003104	NP_003095	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	355					fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding				0		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	CCAGTGACCAGAATCCCTGAT	0.498													T	45365719	G	T	45365719	3	4	104	1	0	0	0	0	1	0	0	0	14933	933	33	5	1099	5	SORD	15	45365719	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	306051	45365719	57165673	5143	71757											
DUOX2	50506	broad.mit.edu	37	chr15	45404761	45404761	+	Frame_Shift_Del	DEL	C	C	-													tttgccctcaccaaagaagaCccccagtacggtgcggttgt							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:45404760_45404760AC>A	uc001zun.3	-	3	520	c.317_317GT>T	c.(316-318)gtcfs	p.V106fs	DUOX2_uc010bea.3_Frame_Shift_Del_p.V106fs|DUOXA2_uc001zuo.3_5'Flank|DUOXA2_uc010beb.3_5'Flank	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	106	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ACCAAAGAAGACCCCCAGTAC	0.687													-	45404761	C	-	45404761	7	5	104	1	0	1	0	1	0	0	0	0	4801	507	18	0	4454	0	DUOX2	15	45404761	Frame_Shift_Del	DEL	C	TCGA-BR-8680-01A-11D-2394-08	39042	45404761	57126631	5144	71758											
DUOX1	53905	broad.mit.edu	37	chr15	45428767	45428767	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccagcatctcctcagagttCgtggcggcctctgagcagtt	11	14	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:45428767C>T	uc001zus.1	+	10	1312	c.966C>T	c.(964-966)TTC>TTT	p.F322F	DUOX1_uc001zut.1_Silent_p.F322F|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	322	Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCTCAGAGTTCGTGGCGGCCT	0.577													T	45428767	C	T	45428767	2	4	104	1	0	0	0	0	0	0	0	1	4800	883	31	1		1	DUOX1	15	45428767	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	24006	45428767	57102625	5145	71759											
DUOX1	53905	broad.mit.edu	37	chr15	45443388	45443388	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagttgacacctcagagaCtgcagtgccccatggacaca	10	13	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:45443388C>T	uc001zus.1	+	24	3302	c.2956C>T	c.(2956-2958)CTG>TTG	p.L986L	DUOX1_uc001zut.1_Silent_p.L986L|DUOX1_uc010bee.1_Silent_p.L366L|DUOX1_uc001zuu.2_Silent_p.L128L	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	986	Cytoplasmic (Potential).|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ACCTCAGAGACTGCAGTGCCC	0.537													T	45443388	C	T	45443388	2	4	104	1	0	0	0	0	0	0	0	1	4800	564	20	4		4	DUOX1	15	45443388	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	14621	45443388	57088004	5146	71760											
GATM	2628	broad.mit.edu	37	chr15	45656125	45656125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcaaacatcttttgaattgGaacttcattggcatccacca	5	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:45656125G>A	uc001zvc.2	-	8	1461	c.1132C>T	c.(1132-1134)CCA>TCA	p.P378S	GATM_uc001zvb.2_Missense_Mutation_p.P249S|GATM_uc010uev.1_Missense_Mutation_p.P431S	NM_001482	NP_001473	P50440	GATM_HUMAN	L-arginine:glycine amidinotransferase precursor	378					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding				0		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	TTTTGAATTGGAACTTCATTG	0.353													A	45656125	G	A	45656125	3	1	104	1	0	0	0	0	1	0	0	0	6263	1174	41	4	147	4	GATM	15	45656125	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	212737	45656125	56875267	5147	71761											
SPATA5L1	79029	broad.mit.edu	37	chr15	45707949	45707949	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttggacttaagacaatagaGagaagaggaagtaaatcaag	12	3	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:45707949G>T	uc001zve.2	+	5	1918	c.1809G>T	c.(1807-1809)GAG>GAT	p.E603D	SPATA5L1_uc001zvf.2_RNA	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	603						cytoplasm	ATP binding|nucleoside-triphosphatase activity			ovary(3)|skin(1)	4		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		AGACAATAGAGAGAAGAGGAA	0.408													T	45707949	G	T	45707949	3	4	104	1	0	0	0	0	1	0	0	0	15011	933	33	5	1827	5	SPATA5L1	15	45707949	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	51824	45707949	56823443	5148	71762											
SEMA6D	80031	broad.mit.edu	37	chr15	48053386	48053386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgatcaagacaacaggatcGagaaaactgtgctatgaaag	11	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:48053386G>A	uc010bek.2	+	5	674	c.314G>A	c.(313-315)CGA>CAA	p.R105Q	SEMA6D_uc001zvw.2_Missense_Mutation_p.R105Q|SEMA6D_uc001zvx.1_Missense_Mutation_p.R105Q|SEMA6D_uc001zvy.2_Missense_Mutation_p.R105Q|SEMA6D_uc001zvz.2_Missense_Mutation_p.R105Q|SEMA6D_uc001zwa.2_Missense_Mutation_p.R105Q|SEMA6D_uc001zwb.2_Missense_Mutation_p.R105Q|SEMA6D_uc001zwc.2_Missense_Mutation_p.R105Q	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	105	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CAACAGGATCGAGAAAACTGT	0.408													A	48053386	G	A	48053386	3	1	104	1	0	0	0	0	1	0	0	0	14042	1058	37	1	328	1	SEMA6D	15	48053386	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2345437	48053386	54478006	5149	71763											
SLC12A1	6557	broad.mit.edu	37	chr15	48580336	48580336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaaagaaacaagaaaaagGcacaattgatgtttggtggt	10	3	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:48580336G>A	uc001zwn.3	+	22	2942	c.2726G>A	c.(2725-2727)GGC>GAC	p.G909D	SLC12A1_uc001zwq.3_Missense_Mutation_p.G680D|SLC12A1_uc001zwr.3_Missense_Mutation_p.G636D	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	909	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CAAGAAAAAGGCACAATTGAT	0.378													A	48580336	G	A	48580336	3	1	104	1	0	0	0	0	1	0	0	0	14382	1203	42	2	2908	2	SLC12A1	15	48580336	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	526950	48580336	53951056	5150	71764											
FBN1	2200	broad.mit.edu	37	chr15	48703309	48703309	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttataaagtggagtactacTgatttgtaatgaataggttc	9	3	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:48703309T>G	uc001zwx.1	-	66	8822	c.8494A>C	c.(8494-8496)AGT>CGT	p.S2832R	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2832					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGAGTACTACTGATTTGTAAT	0.373													G	48703309	T	G	48703309	3	3	104	1	0	0	0	0	1	0	0	0	5702	1580	55	5	125	5	FBN1	15	48703309	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	122973	48703309	53828083	5151	71765											
FBN1	2200	broad.mit.edu	37	chr15	48703477	48703477	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaaggagttctaggattcGaaccttgttactgacgtggg	14	6	1	1	rs137854466		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:48703477G>A	uc001zwx.1	-	66	8654	c.8326C>T	c.(8326-8328)CGA>TGA	p.R2776*	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2776					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCTAGGATTCGAACCTTGTTA	0.413													A	48703477	G	A	48703477	4	1	104	1	0	0	0	0	0	1	0	0	5702	1066	37	1	293	1	FBN1	15	48703477	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	168	48703477	53827915	5152	71766											
FBN1	2200	broad.mit.edu	37	chr15	48776091	48776091	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactctccagggatatttgtGcactgaccaccatcacagat	7	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:48776091G>A	uc001zwx.1	-	31	4090	c.3762C>T	c.(3760-3762)TGC>TGT	p.C1254C		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1254	EGF-like 20; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGATATTTGTGCACTGACCAC	0.403													A	48776091	G	A	48776091	2	1	104	1	0	0	0	0	0	0	0	1	5702	1311	46	2		2	FBN1	15	48776091	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	72614	48776091	53755301	5153	71767											
COPS2	9318	broad.mit.edu	37	chr15	49436464	49436464	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatttgtttcagtgctttaAatccccattctcctttttca	3	11	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:49436464A>C	uc001zxf.2	-	3	285	c.206T>G	c.(205-207)TTT>TGT	p.F69C	COPS2_uc001zxh.2_Missense_Mutation_p.F69C|COPS2_uc010ufa.1_Intron	NM_004236	NP_004227	P61201	CSN2_HUMAN	COP9 constitutive photomorphogenic homolog	69					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		CAGTGCTTTAAATCCCCATTC	0.294													C	49436464	A	C	49436464	3	2	104	1	0	0	0	0	1	0	0	0	3733	14	1	5	1190	5	COPS2	15	49436464	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	660373	49436464	53094928	5154	71768											
C15orf33	196951	broad.mit.edu	37	chr15	49663591	49663591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatctttataatattgaagtCgatacctaaaacagaaaata	4	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:49663591C>T	uc001zxl.2	-	12	1312	c.1018G>A	c.(1018-1020)GAC>AAC	p.D340N		NM_152647	NP_689860	Q96M60	CO033_HUMAN	hypothetical protein LOC196951	340										ovary(1)	1		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		ATATTGAAGTCGATACCTAAA	0.333													T	49663591	C	T	49663591	3	4	104	1	0	0	0	0	1	0	0	0	1791	884	31	1	528	1	C15orf33	15	49663591	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	227127	49663591	52867801	5155	71769											
FGF7	2252	broad.mit.edu	37	chr15	49716732	49716732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacagtggtacctgaggatcGataaaagaggcaaagtaaaa	11	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:49716732G>A	uc001zxn.2	+	2	767	c.238G>A	c.(238-240)GAT>AAT	p.D80N	C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.2_Intron	NM_002009	NP_002000	P21781	FGF7_HUMAN	fibroblast growth factor 7 precursor	80					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity				0		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	CCTGAGGATCGATAAAAGAGG	0.403													A	49716732	G	A	49716732	3	1	104	1	0	0	0	0	1	0	0	0	5857	1058	37	1	240	1	FGF7	15	49716732	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	53141	49716732	52814660	5156	71770											
C15orf33	196951	broad.mit.edu	37	chr15	49869835	49869835	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attttaagtacctctatattCttctctgtctccatttcatc	2	11	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:49869835C>A	uc001zxl.2	-	6	726	c.432G>T	c.(430-432)AAG>AAT	p.K144N	C15orf33_uc001zxm.2_Missense_Mutation_p.K144N	NM_152647	NP_689860	Q96M60	CO033_HUMAN	hypothetical protein LOC196951	144										ovary(1)	1		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		CCTCTATATTCTTCTCTGTCT	0.259													A	49869835	C	A	49869835	3	1	104	1	0	0	0	0	1	0	0	0	1791	912	32	5	1138	5	C15orf33	15	49869835	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	153103	49869835	52661557	5157	71771											
SLC27A2	11001	broad.mit.edu	37	chr15	50489750	50489750	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccttaaaaaagatgatgtgTccatctattatgtgagcaga	9	6	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:50489750T>C	uc001zxw.2	+	2	764	c.532T>C	c.(532-534)TCC>CCC	p.S178P	SLC27A2_uc010bes.2_Missense_Mutation_p.S178P|SLC27A2_uc001zxx.2_5'UTR	NM_003645	NP_003636	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid	178	Lumenal (Potential).				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			ovary(1)|skin(1)	2		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AGATGATGTGTCCATCTATTA	0.363													C	50489750	T	C	50489750	3	2	104	1	0	0	0	0	1	0	0	0	14526	1667	58	3	538	3	SLC27A2	15	50489750	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	619915	50489750	52041642	5158	71772											
USP50	373509	broad.mit.edu	37	chr15	50838687	50838687	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacaggacgtggtagatatcGaagtcatctgcagggagaga	14	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:50838687G>A	uc001zyq.3	-	1	216	c.36C>T	c.(34-36)TTC>TTT	p.F12F		NM_203494	NP_987090	E9PP86	E9PP86_HUMAN	ubiquitin specific protease 50	12					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			lung(1)|breast(1)	2				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		GGTAGATATCGAAGTCATCTG	0.468													A	50838687	G	A	50838687	2	1	104	1	0	0	0	0	0	0	0	1	17079	1049	37	1		1	USP50	15	50838687	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	348937	50838687	51692705	5159	71773											
TRPM7	54822	broad.mit.edu	37	chr15	50853889	50853889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaatattataacatcagacGaacagaattagttgattctg	6	5	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:50853889G>A	uc001zyt.3	-	39	5848	c.5584C>T	c.(5584-5586)CGT>TGT	p.R1862C	TRPM7_uc001zyr.2_Missense_Mutation_p.R299C	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1862	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AACATCAGACGAACAGAATTA	0.363													A	50853889	G	A	50853889	3	1	104	1	0	0	0	0	1	0	0	0	16588	1058	37	1	17	1	TRPM7	15	50853889	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	15202	50853889	51677503	5160	71774											
TRPM7	54822	broad.mit.edu	37	chr15	50878618	50878618	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgaacaggaatggaagttCtgtgacagtcagtaaatcca	10	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:50878618C>T	uc001zyt.3	-	28	4721	c.4457G>A	c.(4456-4458)AGA>AAA	p.R1486K	TRPM7_uc010bew.1_Missense_Mutation_p.R1486K	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1486	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AATGGAAGTTCTGTGACAGTC	0.313													T	50878618	C	T	50878618	3	4	104	1	0	0	0	0	1	0	0	0	16588	913	32	4	1188	4	TRPM7	15	50878618	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	24729	50878618	51652774	5161	71775											
TRPM7	54822	broad.mit.edu	37	chr15	50906354	50906354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caagactattatatattaatCgaaaacgtttcctagtatag	5	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:50906354C>T	uc001zyt.3	-	14	1865	c.1601G>A	c.(1600-1602)CGA>CAA	p.R534Q	TRPM7_uc010bew.1_Missense_Mutation_p.R534Q|TRPM7_uc001zyu.2_Missense_Mutation_p.R92Q	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	534	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ATATATTAATCGAAAACGTTT	0.323													T	50906354	C	T	50906354	3	4	104	1	0	0	0	0	1	0	0	0	16588	884	31	1	4100	1	TRPM7	15	50906354	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	27736	50906354	51625038	5162	71776											
DMXL2	23312	broad.mit.edu	37	chr15	51755589	51755589	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaatacctcactctgctttCttttcttagtgaaaatatat	3	8	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:51755589C>A	uc002abf.2	-	33	8135	c.7910G>T	c.(7909-7911)AGA>ATA	p.R2637I	DMXL2_uc002abd.2_Missense_Mutation_p.R708I|DMXL2_uc010ufy.1_Missense_Mutation_p.R2638I|DMXL2_uc010bfa.2_Missense_Mutation_p.R2001I	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2637						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		ACTCTGCTTTCTTTTCTTAGT	0.303													A	51755589	C	A	51755589	3	1	104	1	0	0	0	0	1	0	0	0	4595	913	32	5	1244	5	DMXL2	15	51755589	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	849235	51755589	50775803	5163	71777											
DMXL2	23312	broad.mit.edu	37	chr15	51763435	51763435	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacctttgcaacaaaataAtcccacatactaagttcggg	5	11	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:51763435A>C	uc002abf.2	-	29	7599	c.7374T>G	c.(7372-7374)GAT>GAG	p.D2458E	DMXL2_uc002abd.2_Missense_Mutation_p.D529E|DMXL2_uc010ufy.1_Missense_Mutation_p.D2459E|DMXL2_uc010bfa.2_Missense_Mutation_p.D1822E	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2458						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		CAACAAAATAATCCCACATAC	0.408													C	51763435	A	C	51763435	3	2	104	1	0	0	0	0	1	0	0	0	4595	98	4	5	1796	5	DMXL2	15	51763435	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	7846	51763435	50767957	5164	71778											
DMXL2	23312	broad.mit.edu	37	chr15	51791197	51791197	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttttcctacggtgactgtTtcctttgctgtactgccact	7	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:51791197T>G	uc002abf.2	-	18	4449	c.4224A>C	c.(4222-4224)GAA>GAC	p.E1408D	DMXL2_uc010ufy.1_Missense_Mutation_p.E1408D|DMXL2_uc010bfa.2_Intron	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1408						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		CGGTGACTGTTTCCTTTGCTG	0.418													G	51791197	T	G	51791197	3	3	104	1	0	0	0	0	1	0	0	0	4595	1838	64	5	4993	5	DMXL2	15	51791197	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	27762	51791197	50740195	5165	71779											
DMXL2	23312	broad.mit.edu	37	chr15	51828437	51828437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtatgtaaagagttaattCgagccaattctgatactcct	8	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:51828437C>T	uc002abf.2	-	12	2465	c.2240G>A	c.(2239-2241)CGA>CAA	p.R747Q	DMXL2_uc010ufy.1_Missense_Mutation_p.R747Q|DMXL2_uc010bfa.2_Missense_Mutation_p.R747Q	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	747						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		AGAGTTAATTCGAGCCAATTC	0.408													T	51828437	C	T	51828437	3	4	104	1	0	0	0	0	1	0	0	0	4595	884	31	1	7001	1	DMXL2	15	51828437	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	37240	51828437	50702955	5166	71780											
TMOD2	29767	broad.mit.edu	37	chr15	52069169	52069169	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgctcaacaatccaaagttCgatgaagaaacagccaacaa	6	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:52069169C>T	uc002abk.2	+	5	668	c.447C>T	c.(445-447)TTC>TTT	p.F149F	TMOD2_uc002abl.3_Silent_p.F149F|TMOD2_uc010bfb.2_Silent_p.F105F	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN	neuronal tropomodulin isoform a	149					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(2)	2				all cancers(107;0.00435)		ATCCAAAGTTCGATGAAGAAA	0.413													T	52069169	C	T	52069169	2	4	104	1	0	0	0	0	0	0	0	1	16231	883	31	1		1	TMOD2	15	52069169	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	240732	52069169	50462223	5167	71781											
TMOD3	29766	broad.mit.edu	37	chr15	52161468	52161468	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagacatcaaagtccaccAcagggccatttgatagagag	9	11	1	3	rs151135583		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:52161468A>G	uc002abm.2	+	3	400	c.181A>G	c.(181-183)ACA>GCA	p.T61A		NM_014547	NP_055362	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	61						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1				all cancers(107;0.00194)		AAAGTCCACCACAGGGCCATT	0.453													G	52161468	A	G	52161468	3	3	104	1	0	0	0	0	1	0	0	0	16232	159	6	3	187	3	TMOD3	15	52161468	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	92299	52161468	50369924	5168	71782											
MYO5C	55930	broad.mit.edu	37	chr15	52539151	52539151	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcatttggcttgatgcatcGaacgtagtggggcgtcgtcg	14	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:52539151G>A	uc010bff.2	-	16	2079	c.1942C>T	c.(1942-1944)CGA>TGA	p.R648*	MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	648	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		TTGATGCATCGAACGTAGTGG	0.468													A	52539151	G	A	52539151	4	1	104	1	0	0	0	0	0	1	0	0	10080	1066	37	1	3390	1	MYO5C	15	52539151	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	377683	52539151	49992241	5169	71783											
WDR72	256764	broad.mit.edu	37	chr15	53991950	53991950	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaaatttcaacttacctgTttcaatttcccagatataaa	2	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:53991950T>C	uc002acj.2	-	13	1804	c.1762A>G	c.(1762-1764)ACA>GCA	p.T588A	WDR72_uc010bfi.1_Missense_Mutation_p.T588A	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	588	WD 8.									lung(1)|skin(1)	2				all cancers(107;0.0511)		AACTTACCTGTTTCAATTTCC	0.363													C	53991950	T	C	53991950	3	2	104	1	0	0	0	0	1	0	0	0	17319	1725	60	3	1578	3	WDR72	15	53991950	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1452799	53991950	48539442	5170	71784											
UNC13C	440279	broad.mit.edu	37	chr15	54306969	54306969	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgaaactgaaaacacagaAactgtggatagtggaatgag	11	5	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:54306969A>G	uc002ack.2	+	1	1869	c.1869A>G	c.(1867-1869)GAA>GAG	p.E623E		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	623					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAAACACAGAAACTGTGGATA	0.468													G	54306969	A	G	54306969	2	3	104	1	0	0	0	0	0	0	0	1	16983	11	1	3		3	UNC13C	15	54306969	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	315019	54306969	48224423	5171	71785											
UNC13C	440279	broad.mit.edu	37	chr15	54307519	54307519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgcagagggctaaatcaGccttggaagtagtatggaac	12	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:54307519G>A	uc002ack.2	+	1	2419	c.2419G>A	c.(2419-2421)GCC>ACC	p.A807T		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	807					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGCTAAATCAGCCTTGGAAGT	0.438													A	54307519	G	A	54307519	3	1	104	1	0	0	0	0	1	0	0	0	16983	971	34	2	2421	2	UNC13C	15	54307519	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	550	54307519	48223873	5172	71786											
UNC13C	440279	broad.mit.edu	37	chr15	54556537	54556537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcagtttacaaaggcggCcaaacagagtgtactggatg	13	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:54556537C>T	uc002ack.2	+	7	3620	c.3620C>T	c.(3619-3621)GCC>GTC	p.A1207V	UNC13C_uc002acl.2_Missense_Mutation_p.A37V	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1207	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACAAAGGCGGCCAAACAGAGT	0.348													T	54556537	C	T	54556537	3	4	104	1	0	0	0	0	1	0	0	0	16983	739	26	2	3646	2	UNC13C	15	54556537	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	249018	54556537	47974855	5173	71787											
UNC13C	440279	broad.mit.edu	37	chr15	54707232	54707232	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgccgaaattatgtggactCtttttgctctggatatgaaa	10	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:54707232C>A	uc002ack.2	+	17	4900	c.4900C>A	c.(4900-4902)CTT>ATT	p.L1634I	UNC13C_uc002acl.2_Missense_Mutation_p.L464I	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1634					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TATGTGGACTCTTTTTGCTCT	0.323													A	54707232	C	A	54707232	3	1	104	1	0	0	0	0	1	0	0	0	16983	913	32	5	4966	5	UNC13C	15	54707232	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	150695	54707232	47824160	5174	71788											
UNC13C	440279	broad.mit.edu	37	chr15	54914612	54914612	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagatcataaagtcactgTaaaaggtatacttctggtct	10	6	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:54914612T>C	uc002ack.2	+	29	6194	c.6194T>C	c.(6193-6195)GTA>GCA	p.V2065A	UNC13C_uc002acm.2_5'UTR	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	2065	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAAGTCACTGTAAAAGGTATA	0.403													C	54914612	T	C	54914612	3	2	104	1	0	0	0	0	1	0	0	0	16983	1638	57	3	6308	3	UNC13C	15	54914612	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	207380	54914612	47616780	5175	71789											
CCPG1	9236	broad.mit.edu	37	chr15	55651945	55651945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attgatgaactgatcaagttCgttccagtgacaaaaagtat	8	6	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:55651945C>T	uc002acv.1	-	8	2191	c.2026G>A	c.(2026-2028)GAA>AAA	p.E676K	CCPG1_uc002acy.2_Missense_Mutation_p.E676K|CCPG1_uc002acu.1_Missense_Mutation_p.E532K|CCPG1_uc002acw.1_Missense_Mutation_p.E401K|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Missense_Mutation_p.E676K|CCPG1_uc002acz.1_Missense_Mutation_p.E676K	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2	676	Lumenal (Potential).				cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)		TGATCAAGTTCGTTCCAGTGA	0.328													T	55651945	C	T	55651945	3	4	104	1	0	0	0	0	1	0	0	0	2938	893	31	1	251	1	CCPG1	15	55651945	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	737333	55651945	46879447	5176	71790											
DYX1C1	161582	broad.mit.edu	37	chr15	55759140	55759140	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cattttaccttttggagcaaGatttctagatgccaaatttc	6	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:55759140G>T	uc002adc.2	-	5	993	c.625C>A	c.(625-627)CTT>ATT	p.L209I	CCPG1_uc002acy.2_5'UTR|DYX1C1_uc010ugh.1_RNA|DYX1C1_uc010ugi.1_Intron|DYX1C1_uc002adb.2_Missense_Mutation_p.L209I|DYX1C1_uc002add.2_Missense_Mutation_p.L209I	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1 isoform a	209					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			skin(1)	1				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TTTGGAGCAAGATTTCTAGAT	0.209													T	55759140	G	T	55759140	3	4	104	1	0	0	0	0	1	0	0	0	4862	942	33	5	764	5	DYX1C1	15	55759140	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	107195	55759140	46772252	5177	71791											
PYGO1	26108	broad.mit.edu	37	chr15	55839078	55839078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attaaaacccatgcccagagGattctgaggaaatgggtgtg	12	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:55839078G>A	uc010bfl.1	-	3	459	c.403C>T	c.(403-405)CCT>TCT	p.P135S	PYGO1_uc002adf.1_Missense_Mutation_p.P135S	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	pygopus homolog 1	135	Pro-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			ovary(1)|skin(1)	2				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		ATGCCCAGAGGATTCTGAGGA	0.438													A	55839078	G	A	55839078	3	1	104	1	0	0	0	0	1	0	0	0	12863	1174	41	4	860	4	PYGO1	15	55839078	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	79938	55839078	46692314	5178	71792											
PRTG	283659	broad.mit.edu	37	chr15	55930813	55930813	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagctgatccacatgtaatcGaacggcaaattcgtatttgg	9	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:55930813G>A	uc002adg.2	-	14	2434	c.2386C>T	c.(2386-2388)CGA>TGA	p.R796*		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor	796	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ACATGTAATCGAACGGCAAAT	0.393													A	55930813	G	A	55930813	4	1	104	1	0	0	0	0	0	1	0	0	12638	1066	37	1	1094	1	PRTG	15	55930813	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	91735	55930813	46600579	5179	71793											
PRTG	283659	broad.mit.edu	37	chr15	55965788	55965788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcaccacttggccccgccGatatttggctgggattggca	12	13	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:55965788G>A	uc002adg.2	-	10	1681	c.1633C>T	c.(1633-1635)CGG>TGG	p.R545W	PRTG_uc002adh.2_Missense_Mutation_p.R47W	NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor	545	Fibronectin type-III 2.				multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGGCCCCGCCGATATTTGGCT	0.498													A	55965788	G	A	55965788	3	1	104	1	0	0	0	0	1	0	0	0	12638	1057	37	1	1863	1	PRTG	15	55965788	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	34975	55965788	46565604	5180	71794											
PRTG	283659	broad.mit.edu	37	chr15	55974623	55974623	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgggctacagtggcagcaatAcaacgataatttccagaatc	9	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:55974623A>T	uc002adg.2	-	4	663	c.615T>A	c.(613-615)TGT>TGA	p.C205*		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor	205	Ig-like 2.				multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGGCAGCAATACAACGATAAT	0.423													T	55974623	A	T	55974623	4	4	104	1	0	0	0	0	0	1	0	0	12638	389	14	5	2905	5	PRTG	15	55974623	Nonsense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	8835	55974623	46556769	5181	71795											
NEDD4	4734	broad.mit.edu	37	chr15	56132713	56132713	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaatgggcggatgaaaaAaccttgcaaaaaaccaaata	8	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:56132713A>C	uc002adj.2	-	17	3520	c.3220T>G	c.(3220-3222)TTT>GTT	p.F1074V	NEDD4_uc002adl.2_Missense_Mutation_p.F655V|NEDD4_uc002adi.2_Missense_Mutation_p.F1002V|NEDD4_uc010ugj.1_Missense_Mutation_p.F1058V|NEDD4_uc010bfm.2_Missense_Mutation_p.F1057V|NEDD4_uc002adk.2_RNA	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	1074	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CGGATGAAAAAACCTTGCAAA	0.318													C	56132713	A	C	56132713	3	2	104	1	0	0	0	0	1	0	0	0	10310	14	1	5	775	5	NEDD4	15	56132713	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	158090	56132713	46398679	5182	71796											
NEDD4	4734	broad.mit.edu	37	chr15	56152638	56152638	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctggctcacggctgaattTccaaaaatggtgagtctggc	13	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:56152638T>C	uc002adj.2	-	7	2484	c.2184A>G	c.(2182-2184)GGA>GGG	p.G728G	NEDD4_uc002adl.2_Silent_p.G309G|NEDD4_uc002adi.2_Silent_p.G656G|NEDD4_uc010ugj.1_Silent_p.G712G|NEDD4_uc010bfm.2_Silent_p.G711G|NEDD4_uc002adk.2_RNA	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	728	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CGGCTGAATTTCCAAAAATGG	0.418													C	56152638	T	C	56152638	2	2	104	1	0	0	0	0	0	0	0	1	10310	1770	62	3		3	NEDD4	15	56152638	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	19925	56152638	46378754	5183	71797											
NEDD4	4734	broad.mit.edu	37	chr15	56208417	56208417	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgtcagaaggtaagtTtccacccaaaaaagtatcat	9	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:56208417T>G	uc002adj.2	-	1	913	c.613A>C	c.(613-615)AAC>CAC	p.N205H	NEDD4_uc002adl.2_Intron|NEDD4_uc002adi.2_Missense_Mutation_p.N205H|NEDD4_uc010ugj.1_Missense_Mutation_p.N205H|NEDD4_uc010bfm.2_Missense_Mutation_p.N205H|NEDD4_uc002adk.2_RNA	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	205	Ser-rich.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GAAGGTAAGTTTCCACCCAAA	0.383													G	56208417	T	G	56208417	3	3	104	1	0	0	0	0	1	0	0	0	10310	1841	64	5	3446	5	NEDD4	15	56208417	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	55779	56208417	46322975	5184	71798											
RFX7	64864	broad.mit.edu	37	chr15	56388113	56388113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggcagcatttcattacagcGacttttacatttggtcctct	7	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:56388113G>A	uc010bfn.2	-	9	1813	c.1813C>T	c.(1813-1815)CGC>TGC	p.R605C	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.R419C	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	508					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						TCATTACAGCGACTTTTACAT	0.423													A	56388113	G	A	56388113	3	1	104	1	0	0	0	0	1	0	0	0	13268	1058	37	1	2573	1	RFX7	15	56388113	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	179696	56388113	46143279	5185	71799											
ZNF280D	54816	broad.mit.edu	37	chr15	56981268	56981268	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atttttcaaaggatccaaaaGattgaaatgaatgttgcact	7	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:56981268G>T	uc002adu.2	-	9	968	c.751C>A	c.(751-753)CTT>ATT	p.L251I	ZNF280D_uc002adv.2_Missense_Mutation_p.L238I|ZNF280D_uc010bfq.2_Missense_Mutation_p.L251I|ZNF280D_uc002adw.1_Missense_Mutation_p.L279I|ZNF280D_uc010bfr.1_RNA	NM_017661	NP_060131	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GGATCCAAAAGATTGAAATGA	0.284													T	56981268	G	T	56981268	3	4	104	1	0	0	0	0	1	0	0	0	17814	942	33	5	2244	5	ZNF280D	15	56981268	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	593155	56981268	45550124	5186	71800											
ZNF280D	54816	broad.mit.edu	37	chr15	56981585	56981585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttgctccagaaacactttCgctgggtttaggcttctttg	9	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:56981585C>T	uc002adu.2	-	8	800	c.583G>A	c.(583-585)GAA>AAA	p.E195K	ZNF280D_uc002adv.2_Missense_Mutation_p.E182K|ZNF280D_uc010bfq.2_Missense_Mutation_p.E195K|ZNF280D_uc002adw.1_Missense_Mutation_p.E223K|ZNF280D_uc010bfr.1_RNA	NM_017661	NP_060131	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GAAACACTTTCGCTGGGTTTA	0.343													T	56981585	C	T	56981585	3	4	104	1	0	0	0	0	1	0	0	0	17814	893	31	1	2416	1	ZNF280D	15	56981585	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	317	56981585	45549807	5187	71801											
CGNL1	84952	broad.mit.edu	37	chr15	57730212	57730212	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaaccatggagctgtatttCggtgaatatcaacatgtgca	10	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:57730212C>T	uc002aeg.2	+	2	91	c.15C>T	c.(13-15)TTC>TTT	p.F5F	CGNL1_uc010bfw.2_Silent_p.F5F	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN	cingulin-like 1	5	Head.					myosin complex|tight junction	motor activity			skin(6)|ovary(4)|central_nervous_system(1)	11				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGCTGTATTTCGGTGAATATC	0.438													T	57730212	C	T	57730212	2	4	104	1	0	0	0	0	0	0	0	1	3304	883	31	1		1	CGNL1	15	57730212	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	748627	57730212	44801180	5188	71802											
ALDH1A2	8854	broad.mit.edu	37	chr15	58253409	58253409	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttagtaaagacagctgctacGagtccaaagtctgagttatt	9	7	1	2	rs147700854		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:58253409G>A	uc002aex.2	-	11	1393	c.1335C>T	c.(1333-1335)CTC>CTT	p.L445L	ALDH1A2_uc002aey.2_Silent_p.L407L|ALDH1A2_uc010ugv.1_Silent_p.L424L|ALDH1A2_uc010ugw.1_Silent_p.L416L|ALDH1A2_uc002aew.2_Silent_p.L349L	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	445					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CAGCTGCTACGAGTCCAAAGT	0.408													A	58253409	G	A	58253409	2	1	104	1	0	0	0	0	0	0	0	1	491	1045	37	1		1	ALDH1A2	15	58253409	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	523197	58253409	44277983	5189	71803											
ALDH1A2	8854	broad.mit.edu	37	chr15	58284967	58284967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctattgctgccccagccGttggcccatatcctggcaaa	9	14	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:58284967G>A	uc002aex.2	-	7	792	c.734C>T	c.(733-735)ACG>ATG	p.T245M	ALDH1A2_uc002aey.2_Intron|ALDH1A2_uc010ugv.1_Missense_Mutation_p.T224M|ALDH1A2_uc010ugw.1_Missense_Mutation_p.T216M|ALDH1A2_uc002aew.2_Missense_Mutation_p.T149M	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	245					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TGCCCCAGCCGTTGGCCCATA	0.488													A	58284967	G	A	58284967	3	1	104	1	0	0	0	0	1	0	0	0	491	1145	40	1	850	1	ALDH1A2	15	58284967	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	31558	58284967	44246425	5190	71804											
RNF111	54778	broad.mit.edu	37	chr15	59347967	59347967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacaggagccacggaaccGcagtaggatttctactgtta	11	11	1	0	rs139679728		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:59347967G>A	uc002afv.2	+	4	1373	c.1094G>A	c.(1093-1095)CGC>CAC	p.R365H	RNF111_uc002afs.2_Missense_Mutation_p.R365H|RNF111_uc002aft.2_Missense_Mutation_p.R365H|RNF111_uc002afu.2_Missense_Mutation_p.R365H|RNF111_uc002afw.2_Missense_Mutation_p.R365H	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	365	Ser-rich.|Interaction with AXIN1.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)		CCACGGAACCGCAGTAGGATT	0.478													A	59347967	G	A	59347967	3	1	104	1	0	0	0	0	1	0	0	0	13425	1087	38	1	1104	1	RNF111	15	59347967	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1063000	59347967	43183425	5191	71805											
LDHAL6B	92483	broad.mit.edu	37	chr15	59499489	59499489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgatggatcttcaacatgGcagccctttcacgaaaatgc	9	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:59499489G>A	uc002agb.2	+	1	448	c.350G>A	c.(349-351)GGC>GAC	p.G117D	MYO1E_uc002aga.2_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	117					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding				0					NADH(DB00157)	CTTCAACATGGCAGCCCTTTC	0.428													A	59499489	G	A	59499489	3	1	104	1	0	0	0	0	1	0	0	0	8700	1203	42	2	352	2	LDHAL6B	15	59499489	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	151522	59499489	43031903	5192	71806											
LDHAL6B	92483	broad.mit.edu	37	chr15	59499969	59499969	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagatcctgagcaatggaAaaatgtccacaaagaagtga	9	6	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:59499969A>G	uc002agb.2	+	1	928	c.830A>G	c.(829-831)AAA>AGA	p.K277R	MYO1E_uc002aga.2_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	277					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding				0					NADH(DB00157)	GAGCAATGGAAAAATGTCCAC	0.418													G	59499969	A	G	59499969	3	3	104	1	0	0	0	0	1	0	0	0	8700	14	1	3	832	3	LDHAL6B	15	59499969	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	480	59499969	43031423	5193	71807											
MYO1E	4643	broad.mit.edu	37	chr15	59501008	59501008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaccgcatgcatcgtggCgcacacgtcatccaggatgc	10	16	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:59501008C>T	uc002aga.2	-	14	1774	c.1402G>A	c.(1402-1404)GCC>ACC	p.A468T		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	468	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)		TGCATCGTGGCGCACACGTCA	0.537													T	59501008	C	T	59501008	3	4	104	1	0	0	0	0	1	0	0	0	10072	768	27	1	1984	1	MYO1E	15	59501008	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1039	59501008	43030384	5194	71808											
FAM81A	145773	broad.mit.edu	37	chr15	59752247	59752247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgagaaaaccaccgccGccctcgtagagcacgccttt	9	16	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:59752247G>A	uc002agc.2	+	3	323	c.136G>A	c.(136-138)GCC>ACC	p.A46T	FAM81A_uc010uha.1_Missense_Mutation_p.A46T	NM_152450	NP_689663	Q8TBF8	FA81A_HUMAN	hypothetical protein LOC145773	46										ovary(1)	1						AACCACCGCCGCCCTCGTAGA	0.537													A	59752247	G	A	59752247	3	1	104	1	0	0	0	0	1	0	0	0	5628	1087	38	1	142	1	FAM81A	15	59752247	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	251239	59752247	42779145	5195	71809											
RORA	6095	broad.mit.edu	37	chr15	60803545	60803545	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttgattccattgatatcaaGacctgactggtctggggaag	11	7	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:60803545G>T	uc002agv.2	-	6	955	c.799C>A	c.(799-801)CTT>ATT	p.L267I	uc002ags.1_Intron|RORA_uc002agt.3_Missense_Mutation_p.L179I|RORA_uc002agw.2_Missense_Mutation_p.L259I|RORA_uc002agx.2_Missense_Mutation_p.L234I	NM_134260	NP_599022	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform b	267	Hinge.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						TTGATATCAAGACCTGACTGG	0.522													T	60803545	G	T	60803545	3	4	104	1	0	0	0	0	1	0	0	0	13528	942	33	5	899	5	RORA	15	60803545	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1051298	60803545	41727847	5196	71810											
VPS13C	54832	broad.mit.edu	37	chr15	62146720	62146720	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcatcaatttttgctgctgtCtcgttgactgtgcatcctca	7	11	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:62146720C>T	uc002agz.2	-	85	11272	c.11198G>A	c.(11197-11199)AGA>AAA	p.R3733K	VPS13C_uc002aha.2_Missense_Mutation_p.R3690K	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3733					protein localization					ovary(2)	2						TTGCTGCTGTCTCGTTGACTG	0.408													T	62146720	C	T	62146720	3	4	104	1	0	0	0	0	1	0	0	0	17188	913	32	4	67	4	VPS13C	15	62146720	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1343175	62146720	40384672	5197	71811											
VPS13C	54832	broad.mit.edu	37	chr15	62155716	62155716	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taagtctctccttccaacttTttgatatgattctgaaaagg	6	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:62155716T>G	uc002agz.2	-	82	10949	c.10875A>C	c.(10873-10875)AAA>AAC	p.K3625N	VPS13C_uc002aha.2_Missense_Mutation_p.K3582N	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3625					protein localization					ovary(2)	2						CTTCCAACTTTTTGATATGAT	0.343													G	62155716	T	G	62155716	3	3	104	1	0	0	0	0	1	0	0	0	17188	1838	64	5	402	5	VPS13C	15	62155716	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	8996	62155716	40375676	5198	71812											
VPS13C	54832	broad.mit.edu	37	chr15	62202485	62202485	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtttgcctgacaaacttTctggccaaaatggaaggcac	9	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:62202485T>G	uc002agz.2	-	64	8809	c.8735A>C	c.(8734-8736)GAA>GCA	p.E2912A	VPS13C_uc002aha.2_Missense_Mutation_p.E2869A|VPS13C_uc002ahb.1_Missense_Mutation_p.E2912A|VPS13C_uc002ahc.1_Missense_Mutation_p.E2869A|VPS13C_uc002ahd.1_Missense_Mutation_p.E289A	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2912					protein localization					ovary(2)	2						TGACAAACTTTCTGGCCAAAA	0.333													G	62202485	T	G	62202485	3	3	104	1	0	0	0	0	1	0	0	0	17188	1783	62	5	2642	5	VPS13C	15	62202485	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	46769	62202485	40328907	5199	71813											
VPS13C	54832	broad.mit.edu	37	chr15	62214690	62214690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaataataaaggtacagttCgatgtccaaggccacattct	7	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:62214690C>T	uc002agz.2	-	54	6955	c.6881G>A	c.(6880-6882)CGA>CAA	p.R2294Q	VPS13C_uc002aha.2_Missense_Mutation_p.R2251Q|VPS13C_uc002ahb.1_Missense_Mutation_p.R2294Q|VPS13C_uc002ahc.1_Missense_Mutation_p.R2251Q	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2294					protein localization					ovary(2)	2						AGGTACAGTTCGATGTCCAAG	0.393													T	62214690	C	T	62214690	3	4	104	1	0	0	0	0	1	0	0	0	17188	884	31	1	4536	1	VPS13C	15	62214690	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	12205	62214690	40316702	5200	71814											
VPS13C	54832	broad.mit.edu	37	chr15	62243142	62243142	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctagaaatgaaactagttAcctttgtcagtaacattttc	5	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:62243142A>G	uc002agz.2	-	40	4610	c.4536_splice	c.e40+1	p.K1512_splice	VPS13C_uc002aha.2_Splice_Site_p.K1469_splice|VPS13C_uc002ahb.1_Splice_Site_p.K1512_splice|VPS13C_uc002ahc.1_Splice_Site_p.K1469_splice	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A						protein localization					ovary(2)	2						GAAACTAGTTACCTTTGTCAG	0.303													G	62243142	A	G	62243142	5	3	104	1	0	0	0	0	0	0	1	0	17188	405	14	3	6935	3	VPS13C	15	62243142	Splice_Site	SNP	A	TCGA-BR-8680-01A-11D-2394-08	28452	62243142	40288250	5201	71815											
VPS13C	54832	broad.mit.edu	37	chr15	62325718	62325718	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcctgcaaggatttttcttCttttacagcatcatacttaa	4	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:62325718C>A	uc002agz.2	-	5	381	c.307G>T	c.(307-309)GAA>TAA	p.E103*	VPS13C_uc002aha.2_Nonsense_Mutation_p.E103*|VPS13C_uc002ahb.1_Nonsense_Mutation_p.E103*|VPS13C_uc002ahc.1_Nonsense_Mutation_p.E103*	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	103					protein localization					ovary(2)	2						GATTTTTCTTCTTTTACAGCA	0.299													A	62325718	C	A	62325718	4	1	104	1	0	0	0	0	0	1	0	0	17188	922	32	5	11306	5	VPS13C	15	62325718	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	82576	62325718	40205674	5202	71816											
VPS13C	54832	broad.mit.edu	37	chr15	62327210	62327210	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagggtcgcaacaactgcttCtccataaaggttcttccaag	8	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:62327210C>T	uc002agz.2	-	4	303	c.229G>A	c.(229-231)GAA>AAA	p.E77K	VPS13C_uc002aha.2_Missense_Mutation_p.E77K|VPS13C_uc002ahb.1_Missense_Mutation_p.E77K|VPS13C_uc002ahc.1_Missense_Mutation_p.E77K	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	77					protein localization					ovary(2)	2						ACAACTGCTTCTCCATAAAGG	0.328													T	62327210	C	T	62327210	3	4	104	1	0	0	0	0	1	0	0	0	17188	922	32	4	11388	4	VPS13C	15	62327210	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1492	62327210	40204182	5203	71817											
TLN2	83660	broad.mit.edu	37	chr15	63029190	63029190	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgccatgttagattctgctCgagacgtgatggagggctcc	13	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:63029190C>T	uc002alb.3	+	26	3472	c.3472C>T	c.(3472-3474)CGA>TGA	p.R1158*		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1158	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						AGATTCTGCTCGAGACGTGAT	0.612													T	63029190	C	T	63029190	4	4	104	1	0	0	0	0	0	1	0	0	15945	876	31	1	3574	1	TLN2	15	63029190	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	701980	63029190	39502202	5204	71818											
TPM1	7168	broad.mit.edu	37	chr15	63353934	63353934	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatgtgccgagcttgaagaaGaattgaaaactgtgacgaac	11	6	0	5	rs1131003		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:63353934G>T	uc002alg.2	+	6	777	c.586G>T	c.(586-588)GAA>TAA	p.E196*	TPM1_uc002alh.2_Intron|TPM1_uc010bgn.2_Intron|TPM1_uc002ali.2_Nonsense_Mutation_p.E196*|TPM1_uc002alj.2_Nonsense_Mutation_p.E196*|TPM1_uc002alk.2_Intron|TPM1_uc002all.2_Intron|TPM1_uc002alm.2_Nonsense_Mutation_p.E238*|TPM1_uc010uie.1_Nonsense_Mutation_p.E196*|TPM1_uc002alp.2_Nonsense_Mutation_p.E196*|TPM1_uc010uif.1_Intron|TPM1_uc002alr.2_Intron|TPM1_uc002als.2_Nonsense_Mutation_p.E160*|TPM1_uc010uig.1_Nonsense_Mutation_p.E160*|TPM1_uc002alt.2_Intron|TPM1_uc010bgp.2_Intron	NM_001018005	NP_001018005	P09493	TPM1_HUMAN	tropomyosin 1 alpha chain isoform 1	196	By similarity.				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle				0						GCTTGAAGAAGAATTGAAAAC	0.493													T	63353934	G	T	63353934	4	4	104	1	0	0	0	0	0	1	0	0	16402	943	33	5	954	5	TPM1	15	63353934	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	324744	63353934	39177458	5205	71819											
APH1B	83464	broad.mit.edu	37	chr15	63571506	63571506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctatatccaagaaatgttccGatttgcatattataaactct	4	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:63571506G>A	uc002ama.2	+	2	334	c.260G>A	c.(259-261)CGA>CAA	p.R87Q	APH1B_uc002amb.2_Missense_Mutation_p.R87Q|APH1B_uc010bgq.2_Missense_Mutation_p.R33Q|APH1B_uc010bgr.2_Missense_Mutation_p.R33Q	NM_031301	NP_112591	Q8WW43	APH1B_HUMAN	presenilin stabilization factor-like isoform 1	87	Helical; Name=3; (Potential).				apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	integral to membrane|plasma membrane|transport vesicle	peptidase activity|protein binding				0						GAAATGTTCCGATTTGCATAT	0.338													A	63571506	G	A	63571506	3	1	104	1	0	0	0	0	1	0	0	0	772	1058	37	1	266	1	APH1B	15	63571506	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	217572	63571506	38959886	5206	71820											
HERC1	8925	broad.mit.edu	37	chr15	63967065	63967065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcagatgttaggcctgttCgcatatctaaagcggattca	9	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:63967065C>T	uc002amp.2	-	38	7470	c.7322G>A	c.(7321-7323)CGA>CAA	p.R2441Q		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2441					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TAGGCCTGTTCGCATATCTAA	0.428													T	63967065	C	T	63967065	3	4	104	1	0	0	0	0	1	0	0	0	7057	884	31	1	7427	1	HERC1	15	63967065	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	395559	63967065	38564327	5207	71821											
HERC1	8925	broad.mit.edu	37	chr15	63986349	63986349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgggactcagtttatcagCataggtcctatgtgaaataa	9	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:63986349C>T	uc002amp.2	-	30	5636	c.5488G>A	c.(5488-5490)GCT>ACT	p.A1830T		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	1830					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						AGTTTATCAGCATAGGTCCTA	0.388													T	63986349	C	T	63986349	3	4	104	1	0	0	0	0	1	0	0	0	7057	710	25	2	9293	2	HERC1	15	63986349	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	19284	63986349	38545043	5208	71822											
HERC1	8925	broad.mit.edu	37	chr15	64010809	64010809	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgaccttgtttgaataagTtcaaggttcttgcaagcaag	10	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:64010809T>G	uc002amp.2	-	21	4090	c.3942A>C	c.(3940-3942)GAA>GAC	p.E1314D	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	1314					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TTTGAATAAGTTCAAGGTTCT	0.363													G	64010809	T	G	64010809	3	3	104	1	0	0	0	0	1	0	0	0	7057	1722	60	5	10875	5	HERC1	15	64010809	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	24460	64010809	38520583	5209	71823											
TRIP4	9325	broad.mit.edu	37	chr15	64687596	64687596	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttttttttctatctttaaaGaaattttagatgggcagaaa	6	3	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:64687596G>T	uc002anm.2	+	3	315	c.272_splice	c.e3-1	p.E91_splice		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4						positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3						TATCTTTAAAGAAATTTTAGA	0.368													T	64687596	G	T	64687596	5	4	104	1	0	0	0	0	0	0	1	0	16555	956	33	5	281	5	TRIP4	15	64687596	Splice_Site	SNP	G	TCGA-BR-8680-01A-11D-2394-08	676787	64687596	37843796	5210	71824											
ZNF609	23060	broad.mit.edu	37	chr15	64966811	64966811	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcaaattcagcacaaaAggcctctgtaagaaaaagtt	7	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:64966811A>C	uc002ann.2	+	4	1758	c.1758A>C	c.(1756-1758)AAA>AAC	p.K586N		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	586						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						TCAGCACAAAAGGCCTCTGTA	0.502													C	64966811	A	C	64966811	3	2	104	1	0	0	0	0	1	0	0	0	18032	69	3	5	1772	5	ZNF609	15	64966811	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	279215	64966811	37564581	5211	71825											
ANKDD1A	348094	broad.mit.edu	37	chr15	65223053	65223053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccttcatctggctgctggtCggggccatatggctgtgctg	14	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:65223053C>T	uc002aoa.2	+	7	633	c.604C>T	c.(604-606)CGG>TGG	p.R202W	ANKDD1A_uc002anx.1_Missense_Mutation_p.R198W|ANKDD1A_uc002any.2_Missense_Mutation_p.R111W|ANKDD1A_uc002anz.2_Missense_Mutation_p.R111W|ANKDD1A_uc002aob.2_Missense_Mutation_p.R67W|ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Missense_Mutation_p.R111W	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	202	ANK 6.				signal transduction					ovary(1)	1						GGCTGCTGGTCGGGGCCATAT	0.602													T	65223053	C	T	65223053	3	4	104	1	0	0	0	0	1	0	0	0	624	875	31	1	630	1	ANKDD1A	15	65223053	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	256242	65223053	37308339	5212	71826											
ANKDD1A	348094	broad.mit.edu	37	chr15	65226337	65226337	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcctgtttccttctagaAaaacctaagctgccttcact	6	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:65226337A>C	uc002aoa.2	+	9	799	c.770A>C	c.(769-771)AAA>ACA	p.K257T	ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Missense_Mutation_p.K166T	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	257	ANK 8.				signal transduction					ovary(1)	1						TCCTTCTAGAAAAACCTAAGC	0.408													C	65226337	A	C	65226337	3	2	104	1	0	0	0	0	1	0	0	0	624	28	1	5	804	5	ANKDD1A	15	65226337	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	3284	65226337	37305055	5213	71827											
SPG21	51324	broad.mit.edu	37	chr15	65268842	65268842	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaaatggtctaaaagttTtctgaatccatcacagaact	6	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:65268842T>G	uc002aod.2	-	4	370	c.277A>C	c.(277-279)AAA>CAA	p.K93Q	SPG21_uc002aoe.2_Missense_Mutation_p.K93Q|SPG21_uc010bhb.2_Intron|SPG21_uc010bhc.2_5'UTR	NM_001127889	NP_001121361	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 isoform a	93					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding				0						TCTAAAAGTTTTCTGAATCCA	0.219													G	65268842	T	G	65268842	3	3	104	1	0	0	0	0	1	0	0	0	15042	1850	64	5	673	5	SPG21	15	65268842	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	42505	65268842	37262550	5214	71828											
CLPX	10845	broad.mit.edu	37	chr15	65450097	65450097	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacataccttgttgtgctttTtccacattataattggcatc	5	9	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:65450097T>G	uc002aom.2	-	8	1116	c.1044A>C	c.(1042-1044)GAA>GAC	p.E348D	CLPX_uc010uiu.1_RNA|CLPX_uc010bhg.1_Missense_Mutation_p.E348D	NM_006660	NP_006651	O76031	CLPX_HUMAN	ClpX caseinolytic protease X homolog precursor	348					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding				0						GTTGTGCTTTTTCCACATTAT	0.363													G	65450097	T	G	65450097	3	3	104	1	0	0	0	0	1	0	0	0	3556	1838	64	5	885	5	CLPX	15	65450097	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	181255	65450097	37081295	5215	71829											
CILP	8483	broad.mit.edu	37	chr15	65489827	65489827	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcagtccagctcatagggtCatcttcgttgaaggggactg	12	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:65489827C>A	uc002aon.2	-	9	2978	c.2797G>T	c.(2797-2799)GAC>TAC	p.D933Y		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	933					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						CTCATAGGGTCATCTTCGTTG	0.537													A	65489827	C	A	65489827	3	1	104	1	0	0	0	0	1	0	0	0	3429	826	29	5	761	5	CILP	15	65489827	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	39730	65489827	37041565	5216	71830											
CILP	8483	broad.mit.edu	37	chr15	65490661	65490661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagaacatgccatacgtccGaagggggaaagtgtctcctt	12	9	1	1	rs142003410	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:65490661G>A	uc002aon.2	-	9	2144	c.1963C>T	c.(1963-1965)CGG>TGG	p.R655W		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	655					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						CCATACGTCCGAAGGGGGAAA	0.532													A	65490661	G	A	65490661	3	1	104	1	0	0	0	0	1	0	0	0	3429	1057	37	1	1595	1	CILP	15	65490661	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	834	65490661	37040731	5217	71831											
DENND4A	10260	broad.mit.edu	37	chr15	65962360	65962360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatatcattaccttccaggtCgtcttaaatctcttatttct	3	10	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:65962360C>T	uc002aph.2	-	25	4877	c.4499G>A	c.(4498-4500)CGA>CAA	p.R1500Q	DENND4A_uc002api.2_Missense_Mutation_p.R1543Q	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						CCTTCCAGGTCGTCTTAAATC	0.353													T	65962360	C	T	65962360	3	4	104	1	0	0	0	0	1	0	0	0	4433	884	31	1	1124	1	DENND4A	15	65962360	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	471699	65962360	36569032	5218	71832											
DENND4A	10260	broad.mit.edu	37	chr15	65962413	65962413	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtaagaagatattgccacaGaatgggcatgtagtattgag	13	4	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:65962413G>A	uc002aph.2	-	25	4824	c.4446C>T	c.(4444-4446)TTC>TTT	p.F1482F	DENND4A_uc002api.2_Silent_p.F1525F	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TATTGCCACAGAATGGGCATG	0.383													A	65962413	G	A	65962413	2	1	104	1	0	0	0	0	0	0	0	1	4433	933	33	4		4	DENND4A	15	65962413	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	53	65962413	36568979	5219	71833											
DENND4A	10260	broad.mit.edu	37	chr15	65968830	65968830	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttattcggctgagatcaattCtcttagtccctgaagtagca	8	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:65968830C>A	uc002aph.2	-	23	4568	c.4190G>T	c.(4189-4191)AGA>ATA	p.R1397I	DENND4A_uc002api.2_Missense_Mutation_p.R1440I	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						GAGATCAATTCTCTTAGTCCC	0.418													A	65968830	C	A	65968830	3	1	104	1	0	0	0	0	1	0	0	0	4433	913	32	5	1441	5	DENND4A	15	65968830	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	6417	65968830	36562562	5220	71834											
DENND4A	10260	broad.mit.edu	37	chr15	65983414	65983414	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttttgatacatctgttTcactgtctaagtcttctaag	6	9	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:65983414T>G	uc002aph.2	-	22	3764	c.3386A>C	c.(3385-3387)GAA>GCA	p.E1129A	DENND4A_uc002api.2_Missense_Mutation_p.E1172A|DENND4A_uc002apj.3_Missense_Mutation_p.E1129A	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TACATCTGTTTCACTGTCTAA	0.353													G	65983414	T	G	65983414	3	3	104	1	0	0	0	0	1	0	0	0	4433	1783	62	5	2249	5	DENND4A	15	65983414	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	14584	65983414	36547978	5221	71835											
DENND4A	10260	broad.mit.edu	37	chr15	66044740	66044740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgttattgagattcttgtCgactttgcagaacgtgtgtg	11	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:66044740C>T	uc002aph.2	-	4	916	c.538G>A	c.(538-540)GAC>AAC	p.D180N	DENND4A_uc002api.2_Missense_Mutation_p.D180N|DENND4A_uc002apj.3_Missense_Mutation_p.D180N|DENND4A_uc010ujj.1_Missense_Mutation_p.D180N	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	180	MABP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						AGATTCTTGTCGACTTTGCAG	0.358													T	66044740	C	T	66044740	3	4	104	1	0	0	0	0	1	0	0	0	4433	884	31	1	5302	1	DENND4A	15	66044740	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	61326	66044740	36486652	5222	71836											
MEGF11	84465	broad.mit.edu	37	chr15	66416290	66416290	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgtgcatcgtgtgtaataGatctgatcgaaggggtgtgc	14	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:66416290G>T	uc002apm.2	-	3	288	c.147C>A	c.(145-147)ATC>ATA	p.I49I	MEGF11_uc002apl.2_Missense_Mutation_p.S8Y|MEGF11_uc002apn.1_Silent_p.I49I	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11 precursor	49	EMI.					basolateral plasma membrane|integral to membrane				pancreas(1)	1						GTGTGTAATAGATCTGATCGA	0.527													T	66416290	G	T	66416290	2	4	104	1	0	0	0	0	0	0	0	1	9461	932	33	5		5	MEGF11	15	66416290	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	371550	66416290	36115102	5223	71837											
ZWILCH	55055	broad.mit.edu	37	chr15	66811286	66811286	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagattaatctgccagtTactgcccttcctcccctttg	6	13	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:66811286T>G	uc002aqb.2	+	5	636	c.390T>G	c.(388-390)GTT>GTG	p.V130V	RPL4_uc002apx.2_Intron|ZWILCH_uc010bhu.1_Silent_p.V16V|ZWILCH_uc002aqa.2_Silent_p.V16V|ZWILCH_uc010bhv.2_Silent_p.V16V	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN	Zwilch	130					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			ovary(1)	1						ATCTGCCAGTTACTGCCCTTC	0.408													G	66811286	T	G	66811286	2	3	104	1	0	0	0	0	0	0	0	1	18245	1741	61	5		5	ZWILCH	15	66811286	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	394996	66811286	35720106	5224	71838											
LCTL	197021	broad.mit.edu	37	chr15	66850086	66850086	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtccttcatgacttgggggTagtcaccggcataaatgggg	14	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:66850086T>C	uc002aqc.2	-	8	1028	c.896A>G	c.(895-897)TAC>TGC	p.Y299C	LCTL_uc002aqd.3_Missense_Mutation_p.Y126C|LCTL_uc010bhw.2_5'UTR	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	lactase-like precursor	299	Extracellular (Potential).				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(2)	2						GACTTGGGGGTAGTCACCGGC	0.493													C	66850086	T	C	66850086	3	2	104	1	0	0	0	0	1	0	0	0	8694	1638	57	3	831	3	LCTL	15	66850086	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	38800	66850086	35681306	5225	71839											
IQCH	64799	broad.mit.edu	37	chr15	67629323	67629323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tattatctagataaaggtttCgaagttaatcaaagggtcta	8	4	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:67629323C>T	uc002aqo.1	+	5	445	c.398C>T	c.(397-399)TCG>TTG	p.S133L	IQCH_uc010ujv.1_Intron|IQCH_uc002aqn.1_Intron|IQCH_uc002aqq.1_Intron|IQCH_uc002aqp.1_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	133										skin(3)|ovary(1)	4				Colorectal(3;0.0856)		ATAAAGGTTTCGAAGTTAATC	0.343													T	67629323	C	T	67629323	3	4	104	1	0	0	0	0	1	0	0	0	7811	893	31	1	544	1	IQCH	15	67629323	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	779237	67629323	34902069	5226	71840											
FEM1B	10116	broad.mit.edu	37	chr15	68583466	68583466	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatctgaaatactgcttaaAactcaaatgaagatgagtct	7	6	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:68583466A>C	uc002arg.2	+	2	2385	c.1770A>C	c.(1768-1770)AAA>AAC	p.K590N	FEM1B_uc002arh.2_Missense_Mutation_p.K510N	NM_015322	NP_056137	Q9UK73	FEM1B_HUMAN	fem-1 homolog b	590					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity				0						TACTGCTTAAAACTCAAATGA	0.448													C	68583466	A	C	68583466	3	2	104	1	0	0	0	0	1	0	0	0	5810	11	1	5	1776	5	FEM1B	15	68583466	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	954143	68583466	33947926	5227	71841											
NOX5	79400	broad.mit.edu	37	chr15	69339194	69339194	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttttggagaaacacaaattCtgtaacatcaaggtgagagg	10	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:69339194C>A	uc002ars.1	+	11	1700	c.1680C>A	c.(1678-1680)TTC>TTA	p.F560L	NOX5_uc002arp.1_Missense_Mutation_p.F542L|NOX5_uc002arq.1_Missense_Mutation_p.F514L|NOX5_uc010bid.1_Missense_Mutation_p.F525L|NOX5_uc002arr.1_Missense_Mutation_p.F532L|NOX5_uc010bie.1_Missense_Mutation_p.F360L|NOX5_uc010bif.1_RNA	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	560	FAD-binding FR-type.|Cytoplasmic (Potential).|C-terminal catalytic region.				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(1)|pancreas(1)	2						AACACAAATTCTGTAACATCA	0.473													A	69339194	C	A	69339194	3	1	104	1	0	0	0	0	1	0	0	0	10559	912	32	5	1755	5	NOX5	15	69339194	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	755728	69339194	33192198	5228	71842											
TLE3	7090	broad.mit.edu	37	chr15	70344723	70344723	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaggctcaccgcagtaggcGaacttgagggagagcacgca	14	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:70344723G>A	uc002asm.2	-	18	3243	c.2124C>T	c.(2122-2124)TTC>TTT	p.F708F	TLE3_uc002ask.2_Silent_p.F635F|TLE3_uc002asl.2_Silent_p.F708F|TLE3_uc010ukd.1_Silent_p.F698F|TLE3_uc010bik.1_Silent_p.F289F|TLE3_uc010bil.1_Silent_p.F705F|TLE3_uc002asn.2_Silent_p.F696F|TLE3_uc002asp.2_Silent_p.F700F|TLE3_uc002aso.2_Silent_p.F703F	NM_005078	NP_005069	Q04726	TLE3_HUMAN	transducin-like enhancer protein 3 isoform a	708	WD 6.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding			lung(2)	2						CGCAGTAGGCGAACTTGAGGG	0.632													A	70344723	G	A	70344723	2	1	104	1	0	0	0	0	0	0	0	1	15937	1049	37	1		1	TLE3	15	70344723	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1005529	70344723	32186669	5229	71843											
UACA	55075	broad.mit.edu	37	chr15	70960067	70960067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaagctgacaattggggCgtattttaccttaatgcatt	8	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:70960067C>T	uc002asr.2	-	16	3060	c.2956G>A	c.(2956-2958)GCC>ACC	p.A986T	UACA_uc010uke.1_Missense_Mutation_p.A877T|UACA_uc002asq.2_Missense_Mutation_p.A973T|UACA_uc010bin.1_Missense_Mutation_p.A961T	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	986	Potential.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						ACAATTGGGGCGTATTTTACC	0.408													T	70960067	C	T	70960067	3	4	104	1	0	0	0	0	1	0	0	0	16821	768	27	1	1310	1	UACA	15	70960067	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	615344	70960067	31571325	5230	71844											
UACA	55075	broad.mit.edu	37	chr15	70960325	70960325	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatttcattcttatcttttaTttttacaaattcctgattta	1	6	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:70960325T>C	uc002asr.2	-	16	2802	c.2698A>G	c.(2698-2700)ATA>GTA	p.I900V	UACA_uc010uke.1_Missense_Mutation_p.I791V|UACA_uc002asq.2_Missense_Mutation_p.I887V|UACA_uc010bin.1_Missense_Mutation_p.I875V	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	900	Potential.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						TTATCTTTTATTTTTACAAAT	0.323													C	70960325	T	C	70960325	3	2	104	1	0	0	0	0	1	0	0	0	16821	1493	52	3	1568	3	UACA	15	70960325	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	258	70960325	31571067	5231	71845											
PKM2	5315	broad.mit.edu	37	chr15	72492905	72492905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacagggaagatgccacGgtacaggtgggcctgacgag	16	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:72492905G>A	uc002atx.1	-	10	1640	c.1399C>T	c.(1399-1401)CGT>TGT	p.R467C	GRAMD2_uc002atq.2_5'Flank|GRAMD2_uc010bis.2_5'Flank|PKM2_uc002atr.1_5'UTR|PKM2_uc002ats.1_Missense_Mutation_p.R134C|PKM2_uc002att.1_Missense_Mutation_p.R233C|PKM2_uc002atu.1_Missense_Mutation_p.R233C|PKM2_uc010bit.1_Missense_Mutation_p.R472C|PKM2_uc010uki.1_Missense_Mutation_p.R541C|PKM2_uc002atv.1_Missense_Mutation_p.R502C|PKM2_uc002atw.1_Missense_Mutation_p.R467C|PKM2_uc002aty.1_Missense_Mutation_p.R467C|PKM2_uc010ukj.1_Missense_Mutation_p.R452C|PKM2_uc010ukk.1_Missense_Mutation_p.R393C|PKM2_uc010biu.1_Missense_Mutation_p.R488C	NM_182471	NP_872271	P14618	KPYM_HUMAN	pyruvate kinase, muscle isoform M1	467	Interaction with POU5F1.				glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)	1					Pyruvic acid(DB00119)	AAGATGCCACGGTACAGGTGG	0.617													A	72492905	G	A	72492905	3	1	104	1	0	0	0	0	1	0	0	0	11977	1116	39	1	204	1	PKM2	15	72492905	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1532580	72492905	30038487	5232	71846											
PKM2	5315	broad.mit.edu	37	chr15	72511433	72511433	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccggcttcactatggggcttCgacatggctgctgaggtcct	13	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:72511433C>T	uc002atx.1	-	2	247	c.6G>A	c.(4-6)TCG>TCA	p.S2S	PKM2_uc010bit.1_Silent_p.S7S|PKM2_uc010uki.1_Silent_p.S76S|PKM2_uc002atv.1_Silent_p.S37S|PKM2_uc002atw.1_Silent_p.S2S|PKM2_uc002aty.1_Silent_p.S2S|PKM2_uc010ukj.1_Missense_Mutation_p.R18Q|PKM2_uc010ukk.1_Silent_p.S2S|PKM2_uc010biu.1_Silent_p.S23S|PKM2_uc002atz.1_RNA	NM_182471	NP_872271	P14618	KPYM_HUMAN	pyruvate kinase, muscle isoform M1	2					glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)	1					Pyruvic acid(DB00119)	TATGGGGCTTCGACATGGCTG	0.532													T	72511433	C	T	72511433	2	4	104	1	0	0	0	0	0	0	0	1	11977	871	31	1		1	PKM2	15	72511433	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	18528	72511433	30019959	5233	71847											
BBS4	585	broad.mit.edu	37	chr15	72987519	72987519	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actacttatttcatttcagaGaactcaatttcctgtatcta	3	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:72987519G>T	uc002avb.2	+	2	69	c.26G>T	c.(25-27)AGA>ATA	p.R9I	BBS4_uc010ukv.1_5'UTR|BBS4_uc002avc.2_Intron|BBS4_uc002avd.2_Missense_Mutation_p.R17I	NM_033028	NP_149017	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	9	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity				0						TCATTTCAGAGAACTCAATTT	0.353									Bardet-Biedl_syndrome				T	72987519	G	T	72987519	3	4	104	1	0	0	0	0	1	0	0	0	1339	956	33	5	32	5	BBS4	15	72987519	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	476086	72987519	29543873	5234	71848											
NPTN	27020	broad.mit.edu	37	chr15	73866030	73866030	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccgttctccttcttgcgCcatatccagtctgggtgggg	11	13	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:73866030C>T	uc002avs.2	-	5	1010	c.813G>A	c.(811-813)TGG>TGA	p.W271*	NPTN_uc010bjc.2_Nonsense_Mutation_p.W271*|NPTN_uc002avt.2_Nonsense_Mutation_p.W155*|NPTN_uc002avr.2_Nonsense_Mutation_p.W155*|NPTN_uc010ula.1_Nonsense_Mutation_p.W66*	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	neuroplastin isoform b precursor	271	Ig-like 3.|Extracellular (Potential).				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding				0						CCTTCTTGCGCCATATCCAGT	0.552													T	73866030	C	T	73866030	4	4	104	1	0	0	0	0	0	1	0	0	10601	740	26	2	399	2	NPTN	15	73866030	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	878511	73866030	28665362	5235	71849											
C15orf59	388135	broad.mit.edu	37	chr15	74032415	74032415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggctggtcagtggagagCgccgtgacttgtagggggct	20	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:74032415C>T	uc002avy.2	-	2	1070	c.725G>A	c.(724-726)CGC>CAC	p.R242H		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	hypothetical protein LOC388135	242										pancreas(1)	1						CAGTGGAGAGCGCCGTGACTT	0.572													T	74032415	C	T	74032415	3	4	104	1	0	0	0	0	1	0	0	0	1807	768	27	1	160	1	C15orf59	15	74032415	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	166385	74032415	28498977	5236	71850											
LOXL1	4016	broad.mit.edu	37	chr15	74241881	74241881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaacattcactacacaggtCgctacgtttctgcaacaaac	6	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:74241881C>T	uc002awc.1	+	6	2020	c.1684C>T	c.(1684-1686)CGC>TGC	p.R562C	LOXL1_uc002awd.1_RNA	NM_005576	NP_005567	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1 preproprotein	562	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding				0						CTACACAGGTCGCTACGTTTC	0.502													T	74241881	C	T	74241881	3	4	104	1	0	0	0	0	1	0	0	0	8899	884	31	1	1706	1	LOXL1	15	74241881	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	209466	74241881	28289511	5237	71851											
PML	5371	broad.mit.edu	37	chr15	74290724	74290724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcccctagcagagctgcGcaaccagtcggtgcgtgagt	14	14	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:74290724G>A	uc002awv.2	+	2	649	c.509G>A	c.(508-510)CGC>CAC	p.R170H	PML_uc002awm.2_Missense_Mutation_p.R170H|PML_uc002awl.2_Missense_Mutation_p.R170H|PML_uc002awj.1_Missense_Mutation_p.R170H|PML_uc002awk.2_Missense_Mutation_p.R170H|PML_uc002awn.2_Missense_Mutation_p.R170H|PML_uc002awo.2_Missense_Mutation_p.R170H|PML_uc002awp.2_Missense_Mutation_p.R170H|PML_uc002awq.2_Missense_Mutation_p.R170H|PML_uc002awr.2_Missense_Mutation_p.R170H|PML_uc002aws.2_Missense_Mutation_p.R170H|PML_uc002awt.2_Missense_Mutation_p.R170H|PML_uc002awu.2_Missense_Mutation_p.R170H|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.R85H	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	170					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						GCAGAGCTGCGCAACCAGTCG	0.617			T	RARA|PAX5	APL|ALL								A	74290724	G	A	74290724	3	1	104	1	0	0	0	0	1	0	0	0	12135	1087	38	1	515	1	PML	15	74290724	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	48843	74290724	28240668	5238	71852											
CYP1A1	1543	broad.mit.edu	37	chr15	75014767	75014767	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagagccaaccacctccccGaaattattattcaggttgac	6	14	1	2	rs144413202	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:75014767G>A	uc002ayp.3	-	2	794	c.672C>T	c.(670-672)TTC>TTT	p.F224F	CYP1A1_uc010bjv.2_Intron|CYP1A1_uc010bjw.2_Intron|CYP1A1_uc010bju.2_5'UTR|CYP1A1_uc010bjx.2_Intron|CYP1A1_uc002ayq.3_Silent_p.F224F|CYP1A1_uc010bjy.2_Silent_p.F224F|CYP1A1_uc010bjz.1_5'UTR	NM_000499	NP_000490	P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A,	224					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			ovary(2)|breast(2)|pancreas(1)	5					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	CCACCTCCCCGAAATTATTAT	0.493									Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia				A	75014767	G	A	75014767	2	1	104	1	0	0	0	0	0	0	0	1	4149	1049	37	1		1	CYP1A1	15	75014767	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	724043	75014767	27516625	5239	71853											
C15orf39	56905	broad.mit.edu	37	chr15	75500865	75500865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtctcagctgcagcgcttcGatcgcacccaccggtgcccc	10	18	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:75500865G>A	uc002azp.3	+	2	2796	c.2476G>A	c.(2476-2478)GAT>AAT	p.D826N	C15orf39_uc002azq.3_Missense_Mutation_p.D826N|C15orf39_uc002azr.3_Missense_Mutation_p.D224N	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	hypothetical protein LOC56905	826											0						GCAGCGCTTCGATCGCACCCA	0.687													A	75500865	G	A	75500865	3	1	104	1	0	0	0	0	1	0	0	0	1793	1058	37	1	2478	1	C15orf39	15	75500865	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	486098	75500865	27030527	5240	71854											
SIN3A	25942	broad.mit.edu	37	chr15	75664355	75664355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tactgtgccgtatttgacacGatacttgttaatgctcacaa	7	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:75664355G>A	uc002bai.2	-	21	4046	c.3787C>T	c.(3787-3789)CGT>TGT	p.R1263C	SIN3A_uc002baj.2_Missense_Mutation_p.R1263C|SIN3A_uc010uml.1_Missense_Mutation_p.R1263C	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	1263					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						TATTTGACACGATACTTGTTA	0.532													A	75664355	G	A	75664355	3	1	104	1	0	0	0	0	1	0	0	0	14325	1058	37	1	38	1	SIN3A	15	75664355	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	163490	75664355	26867037	5241	71855											
SNUPN	10073	broad.mit.edu	37	chr15	75893539	75893539	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgggagtgcaagggaagttCtttagccccacaaatttaaa	10	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:75893539C>A	uc002ban.2	-	8	789	c.699G>T	c.(697-699)AAG>AAT	p.K233N	SNUPN_uc002bao.2_Missense_Mutation_p.K233N|SNUPN_uc002bap.2_Missense_Mutation_p.K275N|SNUPN_uc002baq.2_Missense_Mutation_p.K233N|SNUPN_uc002bar.2_Missense_Mutation_p.K233N|SNUPN_uc002bas.2_Missense_Mutation_p.K233N	NM_005701	NP_005692	O95149	SPN1_HUMAN	snurportin 1	233	Necessary for binding to the m3G-cap structure.				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			pancreas(1)	1						AAGGGAAGTTCTTTAGCCCCA	0.363													A	75893539	C	A	75893539	3	1	104	1	0	0	0	0	1	0	0	0	14877	912	32	5	391	5	SNUPN	15	75893539	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	229184	75893539	26637853	5242	71856											
SNX33	257364	broad.mit.edu	37	chr15	75941999	75941999	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggccgtaacctcaaccgtTtctcatgctttgtgcgttct	9	12	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:75941999T>C	uc002bau.2	+	1	652	c.556T>C	c.(556-558)TTC>CTC	p.F186L	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'Flank	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	sorting nexin 33	186					cell communication		phosphatidylinositol binding|protein binding			ovary(1)	1						CCTCAACCGTTTCTCATGCTT	0.597													C	75941999	T	C	75941999	3	2	104	1	0	0	0	0	1	0	0	0	14903	1841	64	3	558	3	SNX33	15	75941999	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	48460	75941999	26589393	5243	71857											
CSPG4	1464	broad.mit.edu	37	chr15	75969500	75969500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgcccccaccgccgtggGcatacactagctgccctgca	12	17	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:75969500G>A	uc002baw.2	-	10	5453	c.5360C>T	c.(5359-5361)GCC>GTC	p.A1787V		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1787	Extracellular (Potential).|Cysteine-containing.|CSPG 12.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						ACCGCCGTGGGCATACACTAG	0.692													A	75969500	G	A	75969500	3	1	104	1	0	0	0	0	1	0	0	0	3960	1203	42	2	1612	2	CSPG4	15	75969500	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	27501	75969500	26561892	5244	71858											
SGK269	79834	broad.mit.edu	37	chr15	77425509	77425509	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccatgaaaaggtcttcGcatttaacagccagtttctt	7	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:77425509G>A	uc002bcm.2	-	5	4223	c.3915C>T	c.(3913-3915)TGC>TGT	p.C1305C		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	1305					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		AAAGGTCTTCGCATTTAACAG	0.483													A	77425509	G	A	77425509	2	1	104	1	0	0	0	0	0	0	0	1	14211	1079	38	1		1	SGK269	15	77425509	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1456009	77425509	25105883	5245	71859											
SGK269	79834	broad.mit.edu	37	chr15	77471135	77471135	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtctattttacatacctgAgaatctttttaggaatctgt	6	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:77471135A>C	uc002bcm.2	-	3	3442	c.3134T>G	c.(3133-3135)CTC>CGC	p.L1045R	SGK269_uc002bcn.2_Missense_Mutation_p.L1045R	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	1045					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		TACATACCTGAGAATCTTTTT	0.363													C	77471135	A	C	77471135	3	2	104	1	0	0	0	0	1	0	0	0	14211	304	11	5	2122	5	SGK269	15	77471135	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	45626	77471135	25060257	5246	71860											
SH2D7	646892	broad.mit.edu	37	chr15	78390311	78390311	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attttgtcatcaaccagcttCgaaaccggcgttacatcatc	6	12	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:78390311C>T	uc010blb.1	+	3	307	c.307C>T	c.(307-309)CGA>TGA	p.R103*		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	103	SH2.										0						CAACCAGCTTCGAAACCGGCG	0.582													T	78390311	C	T	78390311	4	4	104	1	0	0	0	0	0	1	0	0	14239	876	31	1	317	1	SH2D7	15	78390311	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	919176	78390311	24141081	5247	71861											
DNAJA4	55466	broad.mit.edu	37	chr15	78562971	78562971	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcttcacccatggacatcTttgacatgttctttggtggt	8	10	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:78562971T>G	uc002bdj.1	+	2	382	c.265T>G	c.(265-267)TTT>GTT	p.F89V	DNAJA4_uc002bdi.2_Missense_Mutation_p.F118V|DNAJA4_uc002bdk.2_Missense_Mutation_p.F62V|DNAJA4_uc002bdl.2_Missense_Mutation_p.F4V	NM_001130182	NP_001123654	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	89	Gly-rich.				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			skin(1)	1						CATGGACATCTTTGACATGTT	0.433													G	78562971	T	G	78562971	3	3	104	1	0	0	0	0	1	0	0	0	4614	1609	56	5	417	5	DNAJA4	15	78562971	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	172660	78562971	23968421	5248	71862											
DNAJA4	55466	broad.mit.edu	37	chr15	78568044	78568044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gataaaaacattggacaatcGaattcttgttattacatcca	5	7	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:78568044G>A	uc002bdj.1	+	5	968	c.851G>A	c.(850-852)CGA>CAA	p.R284Q	DNAJA4_uc002bdi.2_Missense_Mutation_p.R313Q|DNAJA4_uc002bdk.2_Missense_Mutation_p.R257Q|DNAJA4_uc002bdm.1_Missense_Mutation_p.R68Q	NM_001130182	NP_001123654	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	284					protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			skin(1)	1						TTGGACAATCGAATTCTTGTT	0.363													A	78568044	G	A	78568044	3	1	104	1	0	0	0	0	1	0	0	0	4614	1058	37	1	1015	1	DNAJA4	15	78568044	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5073	78568044	23963348	5249	71863											
IREB2	3658	broad.mit.edu	37	chr15	78770698	78770698	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaaagctgtgaaattgtttCgaaatgaccagaattcttca	7	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:78770698C>T	uc002bdr.2	+	10	1417	c.1255C>T	c.(1255-1257)CGA>TGA	p.R419*	IREB2_uc010unb.1_Nonsense_Mutation_p.R169*	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	419							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GAAATTGTTTCGAAATGACCA	0.353													T	78770698	C	T	78770698	4	4	104	1	0	0	0	0	0	1	0	0	7826	876	31	1	1293	1	IREB2	15	78770698	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	202654	78770698	23760694	5250	71864											
ADAMTS7	11173	broad.mit.edu	37	chr15	79059228	79059228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctcgtggctggaggagcCgctgcctgagccttcagggc	17	12	1	1	rs141015964		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:79059228C>T	uc002bej.3	-	19	3236	c.3025G>A	c.(3025-3027)GGC>AGC	p.G1009S	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1009					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						CTGGAGGAGCCGCTGCCTGAG	0.677													T	79059228	C	T	79059228	3	4	104	1	0	0	0	0	1	0	0	0	271	652	23	1	2059	1	ADAMTS7	15	79059228	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	288530	79059228	23472164	5251	71865											
MORF4L1	10933	broad.mit.edu	37	chr15	79172918	79172918	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acattacagtggttggaataAaaagtgagtattagatctta	9	3	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:79172918A>C	uc002bel.2	+	3	340	c.152A>C	c.(151-153)AAA>ACA	p.K51T	MORF4L1_uc010bli.1_Missense_Mutation_p.K51T|MORF4L1_uc010blj.1_Missense_Mutation_p.K51T|MORF4L1_uc002bem.2_Missense_Mutation_p.K51T|MORF4L1_uc010une.1_5'UTR	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN	MORF-related gene 15 isoform 2	51	Interaction with MYST1.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding				0						GGTTGGAATAAAAAGTGAGTA	0.299													C	79172918	A	C	79172918	3	2	104	1	0	0	0	0	1	0	0	0	9706	14	1	5	162	5	MORF4L1	15	79172918	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	113690	79172918	23358474	5252	71866											
RASGRF1	5923	broad.mit.edu	37	chr15	79307749	79307749	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatcggatgttatccacAcactggaatcagagagagga	11	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:79307749A>C	uc002beq.2	-	13	2121	c.1746T>G	c.(1744-1746)TGT>TGG	p.C582W	RASGRF1_uc002bep.2_Missense_Mutation_p.C582W|RASGRF1_uc010blm.1_Missense_Mutation_p.C504W|RASGRF1_uc002ber.3_Missense_Mutation_p.C582W|RASGRF1_uc010unh.1_5'UTR	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	582	PH 2.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						TGTTATCCACACACTGGAATC	0.512													C	79307749	A	C	79307749	3	2	104	1	0	0	0	0	1	0	0	0	13072	157	6	5	2139	5	RASGRF1	15	79307749	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	134831	79307749	23223643	5253	71867											
RASGRF1	5923	broad.mit.edu	37	chr15	79323837	79323837	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagctcatggagggtcagGatgtacctggggatctgcgg	18	7	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:79323837G>A	uc002beq.2	-	8	1542	c.1167C>T	c.(1165-1167)ATC>ATT	p.I389I	RASGRF1_uc002bep.2_Silent_p.I389I|RASGRF1_uc010blm.1_Silent_p.I311I|RASGRF1_uc002ber.3_Silent_p.I389I	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	389	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						GGAGGGTCAGGATGTACCTGG	0.582													A	79323837	G	A	79323837	2	1	104	1	0	0	0	0	0	0	0	1	13072	1164	41	4		4	RASGRF1	15	79323837	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	16088	79323837	23207555	5254	71868											
RASGRF1	5923	broad.mit.edu	37	chr15	79339308	79339308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgatggtcttccacttccGccggcacagccagccccgca	10	17	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:79339308G>A	uc002beq.2	-	5	1033	c.658C>T	c.(658-660)CGG>TGG	p.R220W	RASGRF1_uc002bep.2_Missense_Mutation_p.R220W|RASGRF1_uc010blm.1_Missense_Mutation_p.R142W|RASGRF1_uc002ber.3_Missense_Mutation_p.R220W	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	220	IQ.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						TTCCACTTCCGCCGGCACAGC	0.582													A	79339308	G	A	79339308	3	1	104	1	0	0	0	0	1	0	0	0	13072	1086	38	1	3259	1	RASGRF1	15	79339308	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	15471	79339308	23192084	5255	71869											
KIAA1024	23251	broad.mit.edu	37	chr15	79748821	79748821	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccacgggccgccagaAggtacgcaagaaggaggcat	15	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:79748821A>C	uc002bew.1	+	2	407	c.332A>C	c.(331-333)AAG>ACG	p.K111T	KIAA1024_uc010unk.1_Missense_Mutation_p.K111T	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	111						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						GGCCGCCAGAAGGTACGCAAG	0.522													C	79748821	A	C	79748821	3	2	104	1	0	0	0	0	1	0	0	0	8205	72	3	5	334	5	KIAA1024	15	79748821	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	409513	79748821	22782571	5256	71870											
KIAA1024	23251	broad.mit.edu	37	chr15	79749039	79749039	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcctgttgggagttagcaaaGaggtgaaaaaccgcgccgct	13	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:79749039G>T	uc002bew.1	+	2	625	c.550G>T	c.(550-552)GAG>TAG	p.E184*	KIAA1024_uc010unk.1_Nonsense_Mutation_p.E184*	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	184						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						AGTTAGCAAAGAGGTGAAAAA	0.592													T	79749039	G	T	79749039	4	4	104	1	0	0	0	0	0	1	0	0	8205	943	33	5	552	5	KIAA1024	15	79749039	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	218	79749039	22782353	5257	71871											
KIAA1199	57214	broad.mit.edu	37	chr15	81188291	81188291	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggataatgtacagtcatggaAacctggagataccctggtca	11	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:81188291A>C	uc002bfw.1	+	11	1561	c.1301A>C	c.(1300-1302)AAA>ACA	p.K434T	KIAA1199_uc010unn.1_Missense_Mutation_p.K434T	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	434										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						CAGTCATGGAAACCTGGAGAT	0.502													C	81188291	A	C	81188291	3	2	104	1	0	0	0	0	1	0	0	0	8213	14	1	5	1339	5	KIAA1199	15	81188291	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1439252	81188291	21343101	5258	71872											
KIAA1199	57214	broad.mit.edu	37	chr15	81241258	81241258	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtggtgaagaagaagaAgttgtgaggacagctgccgc	15	8	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:81241258A>C	uc002bfw.1	+	29	4339	c.4079A>C	c.(4078-4080)AAG>ACG	p.K1360T	KIAA1199_uc010unn.1_Missense_Mutation_p.K1360T|MESDC2_uc002bfx.2_Intron|MESDC2_uc010uno.1_Intron	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	1360										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						AAGAAGAAGAAGTTGTGAGGA	0.582													C	81241258	A	C	81241258	3	2	104	1	0	0	0	0	1	0	0	0	8213	72	3	5	4189	5	KIAA1199	15	81241258	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	52967	81241258	21290134	5259	71873											
MESDC1	59274	broad.mit.edu	37	chr15	81294772	81294772	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctgacctgctgctgctgTcgagcgaggcgcggcccgtg	17	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:81294772T>C	uc002bfz.2	+	1	1478	c.160T>C	c.(160-162)TCG>CCG	p.S54P		NM_022566	NP_072088	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	54											0						GCTGCTGCTGTCGAGCGAGGC	0.701													C	81294772	T	C	81294772	3	2	104	1	0	0	0	0	1	0	0	0	9480	1667	58	3	162	3	MESDC1	15	81294772	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	53514	81294772	21236620	5260	71874											
TMC3	342125	broad.mit.edu	37	chr15	81625178	81625178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccgacggaggtctatcaggGagcgtgggggaagagaccgt	18	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:81625178G>A	uc002bgo.1	-	22	2885	c.2885C>T	c.(2884-2886)TCC>TTC	p.S962F	TMC3_uc010blr.1_RNA	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	962	Cytoplasmic (Potential).					integral to membrane				ovary(1)|liver(1)	2						GTCTATCAGGGAGCGTGGGGG	0.607													A	81625178	G	A	81625178	3	1	104	1	0	0	0	0	1	0	0	0	15983	1174	41	4	421	4	TMC3	15	81625178	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	330406	81625178	20906214	5261	71875											
MEX3B	84206	broad.mit.edu	37	chr15	82336352	82336352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccaagcgagctggagctgtCgttgcggtagctagagaaag	16	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:82336352C>T	uc002bgq.1	-	2	1174	c.859G>A	c.(859-861)GAC>AAC	p.D287N		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	287					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						CTGGAGCTGTCGTTGCGGTAG	0.682													T	82336352	C	T	82336352	3	4	104	1	0	0	0	0	1	0	0	0	9510	884	31	1	854	1	MEX3B	15	82336352	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	711174	82336352	20195040	5262	71876											
EFTUD1	79631	broad.mit.edu	37	chr15	82444040	82444040	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atttccaccagaacaggtttCattttcctcctgtccctctt	4	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:82444040C>A	uc002bgt.1	-	18	2924	c.2755G>T	c.(2755-2757)GAA>TAA	p.E919*	EFTUD1_uc002bgs.1_Nonsense_Mutation_p.E290*|EFTUD1_uc002bgu.1_Nonsense_Mutation_p.E868*	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	919					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			ovary(1)	1						GAACAGGTTTCATTTTCCTCC	0.453													A	82444040	C	A	82444040	4	1	104	1	0	0	0	0	0	1	0	0	4960	835	29	5	619	5	EFTUD1	15	82444040	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	107688	82444040	20087352	5263	71877											
EFTUD1	79631	broad.mit.edu	37	chr15	82444245	82444245	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgaagctttgtcagctggAcctgtccatactgagttctg	10	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:82444245A>G	uc002bgt.1	-	18	2719	c.2550T>C	c.(2548-2550)GGT>GGC	p.G850G	EFTUD1_uc002bgs.1_Silent_p.G221G|EFTUD1_uc002bgu.1_Silent_p.G799G	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	850					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			ovary(1)	1						TGTCAGCTGGACCTGTCCATA	0.453													G	82444245	A	G	82444245	2	3	104	1	0	0	0	0	0	0	0	1	4960	262	10	3		3	EFTUD1	15	82444245	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	205	82444245	20087147	5264	71878											
AP3B2	8120	broad.mit.edu	37	chr15	83358164	83358164	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcatggcctccagcttgagaGaatccttgttggtgtccagc	11	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:83358164G>T	uc010uoh.1	-	2	332	c.155C>A	c.(154-156)TCT>TAT	p.S52Y	AP3B2_uc010uoi.1_Missense_Mutation_p.S52Y|AP3B2_uc010uoj.1_Missense_Mutation_p.S52Y|AP3B2_uc010uok.1_Missense_Mutation_p.S52Y	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	52					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAGCTTGAGAGAATCCTTGTT	0.582													T	83358164	G	T	83358164	3	4	104	1	0	0	0	0	1	0	0	0	745	942	33	5	3117	5	AP3B2	15	83358164	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	913919	83358164	19173228	5265	71879											
HOMER2	9455	broad.mit.edu	37	chr15	83561463	83561463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccgtccacactgatgatccGatagctgttccttgtgacat	8	12	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:83561463G>A	uc002bjg.2	-	2	322	c.136C>T	c.(136-138)CGG>TGG	p.R46W	HOMER2_uc002bjh.2_Missense_Mutation_p.R46W|HOMER2_uc002bjj.2_Missense_Mutation_p.R46W|HOMER2_uc002bji.2_Missense_Mutation_p.R46W	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	homer 2 isoform 2	46	WH1.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane					0						CTGATGATCCGATAGCTGTTC	0.502													A	83561463	G	A	83561463	3	1	104	1	0	0	0	0	1	0	0	0	7279	1057	37	1	960	1	HOMER2	15	83561463	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	203299	83561463	18969929	5266	71880											
BTBD1	53339	broad.mit.edu	37	chr15	83698921	83698921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcccactgtaaccccagCggctttctacttgctggaat	8	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:83698921C>T	uc002bjn.2	-	5	1225	c.1022G>A	c.(1021-1023)CGC>CAC	p.R341H	BTBD1_uc002bjo.2_Missense_Mutation_p.R341H	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1 isoform 1	341						cytoplasmic mRNA processing body|protein complex	protein binding			ovary(1)|central_nervous_system(1)	2				all cancers(203;0.000186)		GTAACCCCAGCGGCTTTCTAC	0.478													T	83698921	C	T	83698921	3	4	104	1	0	0	0	0	1	0	0	0	1537	768	27	1	442	1	BTBD1	15	83698921	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	137458	83698921	18832471	5267	71881											
BNC1	646	broad.mit.edu	37	chr15	83926276	83926276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtttcgactgcgaacagacGaaaacatggtgttgcagcct	11	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:83926276G>A	uc002bjt.1	-	5	2991	c.2903C>T	c.(2902-2904)TCG>TTG	p.S968L	BNC1_uc010uos.1_Missense_Mutation_p.S956L	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	968	C2H2-type 6.				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						GCGAACAGACGAAAACATGGT	0.498													A	83926276	G	A	83926276	3	1	104	1	0	0	0	0	1	0	0	0	1474	1059	37	1	85	1	BNC1	15	83926276	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	227355	83926276	18605116	5268	71882											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84442274	84442274	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtttgctttttaacatctaGacctcaagaaacactcgttc	5	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:84442274G>T	uc002bjz.3	+	4	414	c.190_splice	c.e4-1	p.T64_splice	ADAMTSL3_uc002bjy.1_Splice_Site_p.T64_splice|ADAMTSL3_uc010bmt.1_Splice_Site_p.T64_splice|ADAMTSL3_uc010bmu.1_Splice_Site_p.T64_splice	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor							proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTAACATCTAGACCTCAAGAA	0.438													T	84442274	G	T	84442274	5	4	104	1	0	0	0	0	0	0	1	0	276	956	33	5	199	5	ADAMTSL3	15	84442274	Splice_Site	SNP	G	TCGA-BR-8680-01A-11D-2394-08	515998	84442274	18089118	5269	71883											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84527579	84527579	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaattacagtgaaaggAcctgcccacctctgtaagta	10	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:84527579A>G	uc002bjz.3	+	8	1013	c.789A>G	c.(787-789)GGA>GGG	p.G263G	ADAMTSL3_uc002bjy.1_Silent_p.G263G|ADAMTSL3_uc010bmt.1_Silent_p.G263G|ADAMTSL3_uc010bmu.1_Silent_p.G263G	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	263						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.G263*(1)		ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAGTGAAAGGACCTGCCCACC	0.313													G	84527579	A	G	84527579	2	3	104	1	0	0	0	0	0	0	0	1	276	262	10	3		3	ADAMTSL3	15	84527579	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	85305	84527579	18003813	5270	71884											
SEC11A	23478	broad.mit.edu	37	chr15	85230953	85230953	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtatgggatcttcaactcGatttgttagaaagagaagat	10	5	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:85230953G>A	uc002blb.1	-	3	582	c.214C>T	c.(214-216)CGA>TGA	p.R72*	SEC11A_uc002blc.1_Nonsense_Mutation_p.R46*	NM_014300	NP_055115	P67812	SC11A_HUMAN	SEC11-like 1	72	Lumenal (Potential).				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			TCTTCAACTCGATTTGTTAGA	0.373													A	85230953	G	A	85230953	4	1	104	1	0	0	0	0	0	1	0	0	13978	1066	37	1	341	1	SEC11A	15	85230953	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	703374	85230953	17300439	5271	71885											
SLC28A1	9154	broad.mit.edu	37	chr15	85478326	85478326	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaaggtggtcgccaacatCgctgccaacctgattgcgtt	12	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:85478326C>T	uc002blg.2	+	14	1486	c.1284C>T	c.(1282-1284)ATC>ATT	p.I428I	SLC28A1_uc010bnb.2_Silent_p.I428I|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Silent_p.I428I|SLC28A1_uc010upg.1_Silent_p.I428I	NM_004213	NP_004204	O00337	S28A1_HUMAN	solute carrier family 28, member 1 isoform 1	428	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCGCCAACATCGCTGCCAACC	0.552													T	85478326	C	T	85478326	2	4	104	1	0	0	0	0	0	0	0	1	14531	874	31	1		1	SLC28A1	15	85478326	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	247373	85478326	17053066	5272	71886											
AKAP13	11214	broad.mit.edu	37	chr15	86124509	86124509	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctctggatgttggagtgaaGaacactcaatcccagggaaa	11	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:86124509G>T	uc002blv.1	+	7	3380	c.3210G>T	c.(3208-3210)AAG>AAT	p.K1070N	AKAP13_uc002blt.1_Missense_Mutation_p.K1070N|AKAP13_uc002blu.1_Missense_Mutation_p.K1070N|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	1070					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						TTGGAGTGAAGAACACTCAAT	0.517													T	86124509	G	T	86124509	3	4	104	1	0	0	0	0	1	0	0	0	449	933	33	5	3232	5	AKAP13	15	86124509	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	646183	86124509	16406883	5273	71887											
AGBL1	123624	broad.mit.edu	37	chr15	86697732	86697732	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgattctggccaggaagaacCtatcccatggccagaatctc	9	12	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:86697732C>A	uc002blz.1	+	3	276	c.196C>A	c.(196-198)CTA>ATA	p.L66I		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	66					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						CAGGAAGAACCTATCCCATGG	0.468													A	86697732	C	A	86697732	3	1	104	1	0	0	0	0	1	0	0	0	375	680	24	5	202	5	AGBL1	15	86697732	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	573223	86697732	15833660	5274	71888											
AGBL1	123624	broad.mit.edu	37	chr15	86807892	86807892	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgtcaaagtaatagataAgcttctgcagacacatctga	8	7	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:86807892A>C	uc002blz.1	+	10	1432	c.1352A>C	c.(1351-1353)AAG>ACG	p.K451T	AGBL1_uc002bma.1_Missense_Mutation_p.K182T|AGBL1_uc002bmb.1_Missense_Mutation_p.K145T	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	451					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						GTAATAGATAAGCTTCTGCAG	0.453													C	86807892	A	C	86807892	3	2	104	1	0	0	0	0	1	0	0	0	375	72	3	5	1386	5	AGBL1	15	86807892	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	110160	86807892	15723500	5275	71889											
NTRK3	4916	broad.mit.edu	37	chr15	88420315	88420315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggggcagactcggggccGctccaaaacacgaccttggg	14	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:88420315G>A	uc002bme.1	-	19	2533	c.2371C>T	c.(2371-2373)CGG>TGG	p.R791W	NTRK3_uc002bmh.2_Missense_Mutation_p.R769W|NTRK3_uc002bmf.1_Missense_Mutation_p.R777W	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	791	Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACTCGGGGCCGCTCCAAAACA	0.527			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			A	88420315	G	A	88420315	3	1	104	1	0	0	0	0	1	0	0	0	10708	1086	38	1	152	1	NTRK3	15	88420315	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1612423	88420315	14111077	5276	71890											
NTRK3	4916	broad.mit.edu	37	chr15	88472566	88472566	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtacaccatacccgaggcGatctgactggcaatgtggag	13	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:88472566G>A	uc002bme.1	-	16	2151	c.1989C>T	c.(1987-1989)ATC>ATT	p.I663I	NTRK3_uc002bmh.2_Silent_p.I655I|NTRK3_uc002bmf.1_Silent_p.I663I|NTRK3_uc010upl.1_Silent_p.I565I|NTRK3_uc010bnh.1_Silent_p.I655I	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	663	Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			TACCCGAGGCGATCTGACTGG	0.602			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			A	88472566	G	A	88472566	2	1	104	1	0	0	0	0	0	0	0	1	10708	1048	37	1		1	NTRK3	15	88472566	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	52251	88472566	14058826	5277	71891											
NTRK3	4916	broad.mit.edu	37	chr15	88679173	88679173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattgctcatgcccaccacGttctctgcaatgcacgtcag	8	15	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:88679173G>A	uc002bme.1	-	8	1026	c.864C>T	c.(862-864)AAC>AAT	p.N288N	NTRK3_uc002bmh.2_Silent_p.N288N|NTRK3_uc002bmf.1_Silent_p.N288N|NTRK3_uc010upl.1_Silent_p.N190N|NTRK3_uc010bnh.1_Silent_p.N288N|NTRK3_uc002bmg.2_Silent_p.N288N	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	288	Ig-like C2-type 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGCCCACCACGTTCTCTGCAA	0.522			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			A	88679173	G	A	88679173	2	1	104	1	0	0	0	0	0	0	0	1	10708	1136	40	1		1	NTRK3	15	88679173	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	206607	88679173	13852219	5278	71892											
ACAN	176	broad.mit.edu	37	chr15	89403618	89403618	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgcaaggagacagagggAcacgtcatatgcctgtgccc	12	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:89403618A>G	uc010upo.1	+	13	7268	c.6894A>G	c.(6892-6894)GGA>GGG	p.G2298G	ACAN_uc010upp.1_Intron|ACAN_uc002bna.2_Intron	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	2298					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGACAGAGGGACACGTCATAT	0.627													G	89403618	A	G	89403618	2	3	104	1	0	0	0	0	0	0	0	1	117	262	10	3		3	ACAN	15	89403618	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	724445	89403618	13127774	5279	71893											
FANCI	55215	broad.mit.edu	37	chr15	89807192	89807192	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaaaaagcattgagcatgTtctccaagatgaatcttcaa	8	7	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:89807192T>C	uc010bnp.1	+	8	694	c.604T>C	c.(604-606)TTC>CTC	p.F202L	FANCI_uc002bnm.1_Missense_Mutation_p.F202L|FANCI_uc002bnn.1_RNA|FANCI_uc002bno.2_Missense_Mutation_p.F202L|FANCI_uc002bnp.1_Missense_Mutation_p.F23L	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	202					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					ATTGAGCATGTTCTCCAAGAT	0.418								Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				C	89807192	T	C	89807192	3	2	104	1	0	0	0	0	1	0	0	0	5669	1725	60	3	630	3	FANCI	15	89807192	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	403574	89807192	12724200	5280	71894											
FANCI	55215	broad.mit.edu	37	chr15	89849327	89849327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctgcttacatttttccacGagctggtgcagacagctctg	9	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:89849327G>A	uc010bnp.1	+	32	3529	c.3439G>A	c.(3439-3441)GAG>AAG	p.E1147K	FANCI_uc002bnm.1_Missense_Mutation_p.E1087K|FANCI_uc002bnn.1_Intron|FANCI_uc002bnp.1_Missense_Mutation_p.E907K|FANCI_uc002bnq.1_Missense_Mutation_p.E560K	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	1147					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					ATTTTTCCACGAGCTGGTGCA	0.473								Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				A	89849327	G	A	89849327	3	1	104	1	0	0	0	0	1	0	0	0	5669	1059	37	1	3561	1	FANCI	15	89849327	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	42135	89849327	12682065	5281	71895											
POLG	5428	broad.mit.edu	37	chr15	89860719	89860719	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgactgcactgaaaaaggcGactgactggggcaagtcatt	12	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:89860719G>A	uc002bns.3	-	22	3813	c.3531C>T	c.(3529-3531)GTC>GTT	p.V1177V	POLG_uc002bnr.3_Silent_p.V1177V	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	1177					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TGAAAAAGGCGACTGACTGGG	0.507								DNA_polymerases_(catalytic_subunits)					A	89860719	G	A	89860719	2	1	104	1	0	0	0	0	0	0	0	1	12200	1045	37	1		1	POLG	15	89860719	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	11392	89860719	12670673	5282	71896											
PEX11A	8800	broad.mit.edu	37	chr15	90226989	90226989	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagtagtggtgagcagccctCgttcgccatttctctttgtt	10	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:90226989C>T	uc002boi.2	-	3	458	c.363G>A	c.(361-363)ACG>ACA	p.T121T	PEX11A_uc010upy.1_RNA	NM_003847	NP_003838	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	121	Lumenal (Potential).				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane					0	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GAGCAGCCCTCGTTCGCCATT	0.493													T	90226989	C	T	90226989	2	4	104	1	0	0	0	0	0	0	0	1	11737	871	31	1		1	PEX11A	15	90226989	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	366270	90226989	12304403	5283	71897											
PEX11A	8800	broad.mit.edu	37	chr15	90227003	90227003	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agccctcgttcgccatttctCtttgttgatgccagaggtga	10	11	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:90227003C>A	uc002boi.2	-	3	444	c.349G>T	c.(349-351)GAG>TAG	p.E117*	PEX11A_uc010upy.1_RNA	NM_003847	NP_003838	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	117	Lumenal (Potential).				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane					0	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CGCCATTTCTCTTTGTTGATG	0.478													A	90227003	C	A	90227003	4	1	104	1	0	0	0	0	0	1	0	0	11737	922	32	5	398	5	PEX11A	15	90227003	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	14	90227003	12304389	5284	71898											
WDR93	56964	broad.mit.edu	37	chr15	90255298	90255298	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acctgtataaagatggagatCtctcaaggaggggactttgc	12	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:90255298C>A	uc002boj.2	+	5	704	c.603C>A	c.(601-603)ATC>ATA	p.I201I	WDR93_uc010bnr.2_Silent_p.I201I	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	201					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			ovary(2)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AGATGGAGATCTCTCAAGGAG	0.403													A	90255298	C	A	90255298	2	1	104	1	0	0	0	0	0	0	0	1	17337	903	32	5		5	WDR93	15	90255298	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	28295	90255298	12276094	5285	71899											
ANPEP	290	broad.mit.edu	37	chr15	90340835	90340835	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccatagacctcggagcggtCaaacatgagcttgaagtagc	12	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:90340835C>A	uc002bop.3	-	15	2420	c.2128G>T	c.(2128-2130)GAC>TAC	p.D710Y		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	710	Extracellular.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)|skin(1)	4	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TCGGAGCGGTCAAACATGAGC	0.547													A	90340835	C	A	90340835	3	1	104	1	0	0	0	0	1	0	0	0	710	826	29	5	803	5	ANPEP	15	90340835	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	85537	90340835	12190557	5286	71900											
SEMA4B	10509	broad.mit.edu	37	chr15	90770845	90770845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacctttgcagcgcgtcttCggttgtgtccccgtcttttg	12	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:90770845C>T	uc002boy.2	+	14	2028	c.1745C>T	c.(1744-1746)TCG>TTG	p.S582L	SEMA4B_uc002boz.2_Missense_Mutation_p.S582L|SEMA4B_uc010uqd.1_Missense_Mutation_p.S420L|SEMA4B_uc002bpa.2_Missense_Mutation_p.S420L|SEMA4B_uc010bnv.1_Missense_Mutation_p.S220L	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AGCGCGTCTTCGGTTGTGTCC	0.607													T	90770845	C	T	90770845	3	4	104	1	0	0	0	0	1	0	0	0	14032	893	31	1	1795	1	SEMA4B	15	90770845	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	430010	90770845	11760547	5287	71901											
TTLL13	440307	broad.mit.edu	37	chr15	90799398	90799398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggacttccagtcctacggtCgtcagcgaaaagcccgcaca	11	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:90799398C>T	uc002bpd.1	+	6	862	c.574C>T	c.(574-576)CGT>TGT	p.R192C	TTLL13_uc002bpe.1_Intron	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	192	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GTCCTACGGTCGTCAGCGAAA	0.562													T	90799398	C	T	90799398	3	4	104	1	0	0	0	0	1	0	0	0	16723	884	31	1	592	1	TTLL13	15	90799398	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	28553	90799398	11731994	5288	71902											
IQGAP1	8826	broad.mit.edu	37	chr15	91034623	91034623	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgatgccaaaacacctgAcaagatgaaaaagtcaaaat	7	9	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:91034623A>C	uc002bpl.1	+	34	4408	c.4307A>C	c.(4306-4308)GAC>GCC	p.D1436A	IQGAP1_uc010uqg.1_Missense_Mutation_p.D57A	NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1436	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAAACACCTGACAAGATGAAA	0.423													C	91034623	A	C	91034623	3	2	104	1	0	0	0	0	1	0	0	0	7814	275	10	5	4441	5	IQGAP1	15	91034623	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	235225	91034623	11496769	5289	71903											
SLCO3A1	28232	broad.mit.edu	37	chr15	92669380	92669380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtctgccctgggggccattCggatggccatgctcgtcaac	13	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:92669380C>T	uc002bqx.2	+	6	1465	c.1264C>T	c.(1264-1266)CGG>TGG	p.R422W	SLCO3A1_uc002bqy.2_Missense_Mutation_p.R422W|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Missense_Mutation_p.R364W	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	422	Helical; Name=9; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			skin(1)	1	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GGGGGCCATTCGGATGGCCAT	0.582													T	92669380	C	T	92669380	3	4	104	1	0	0	0	0	1	0	0	0	14728	875	31	1	1286	1	SLCO3A1	15	92669380	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1634757	92669380	9862012	5290	71904											
SPATA8	145946	broad.mit.edu	37	chr15	97327401	97327401	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaacctcgtcgcgacatttCtcagaagccatgacatgtcc	8	13	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:97327401C>A	uc002bue.2	+	2	318	c.108C>A	c.(106-108)TTC>TTA	p.F36L	uc010urp.1_5'Flank|uc002bud.1_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	36										ovary(1)|skin(1)	2	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			CGCGACATTTCTCAGAAGCCA	0.577													A	97327401	C	A	97327401	3	1	104	1	0	0	0	0	1	0	0	0	15014	912	32	5	114	5	SPATA8	15	97327401	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4658021	97327401	5203991	5291	71905											
FAM169B	283777	broad.mit.edu	37	chr15	99023939	99023939	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtcatcatcatccaaatttCtctccaatcttccaaaaata	1	12	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:99023939C>T	uc002buk.1	-	4	324	c.74G>A	c.(73-75)AGA>AAA	p.R25K		NM_182562	NP_872368	Q8N8A8	F169B_HUMAN	hypothetical protein LOC283777	25											0						ATCCAAATTTCTCTCCAATCT	0.393													T	99023939	C	T	99023939	3	4	104	1	0	0	0	0	1	0	0	0	5488	913	32	4	520	4	FAM169B	15	99023939	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1696538	99023939	3507453	5292	71906											
IGF1R	3480	broad.mit.edu	37	chr15	99456496	99456496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagtgagatcttgtacattCgcaccaatgcttcaggtatc	9	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:99456496C>T	uc002bul.2	+	8	1863	c.1813C>T	c.(1813-1815)CGC>TGC	p.R605C	IGF1R_uc010urq.1_Missense_Mutation_p.R605C|IGF1R_uc010bon.2_Missense_Mutation_p.R605C|IGF1R_uc010urr.1_Missense_Mutation_p.R55C	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	605	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CTTGTACATTCGCACCAATGC	0.537													T	99456496	C	T	99456496	3	4	104	1	0	0	0	0	1	0	0	0	7571	884	31	1	1843	1	IGF1R	15	99456496	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	432557	99456496	3074896	5293	71907											
SYNM	23336	broad.mit.edu	37	chr15	99671359	99671359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaaattaaaataccccacGaattccacacctccatgaag	4	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:99671359G>A	uc002bup.2	+	6	2914	c.2794G>A	c.(2794-2796)GAA>AAA	p.E932K	SYNM_uc002buo.2_Missense_Mutation_p.E932K|SYNM_uc002buq.2_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	932	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			ovary(3)|central_nervous_system(1)	4						AATACCCCACGAATTCCACAC	0.547													A	99671359	G	A	99671359	3	1	104	1	0	0	0	0	1	0	0	0	15452	1059	37	1	2807	1	SYNM	15	99671359	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	214863	99671359	2860033	5294	71908											
ADAMTS17	170691	broad.mit.edu	37	chr15	100533305	100533305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgagtagtcctcgcagGcctcctcggctctcggcctc	11	17	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:100533305G>A	uc002bvv.1	-	20	2976	c.2897C>T	c.(2896-2898)GCC>GTC	p.A966V		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	966	TSP type-1 4.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GTCCTCGCAGGCCTCCTCGGC	0.622													A	100533305	G	A	100533305	3	1	104	1	0	0	0	0	1	0	0	0	262	1203	42	2	402	2	ADAMTS17	15	100533305	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	861946	100533305	1998087	5295	71909											
ADAMTS17	170691	broad.mit.edu	37	chr15	100672288	100672288	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacatgctccaggcgccccAcgggctccagtctccgtcca	10	19	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:100672288A>G	uc002bvv.1	-	12	1724	c.1645T>C	c.(1645-1647)TGG>CGG	p.W549R	ADAMTS17_uc002bvx.1_Missense_Mutation_p.W306R	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	549	TSP type-1 1.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CAGGCGCCCCACGGGCTCCAG	0.672											OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	100672288	A	G	100672288	3	3	104	1	0	0	0	0	1	0	0	0	262	159	6	3	1686	3	ADAMTS17	15	100672288	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	138983	100672288	1859104	5296	71910											
ALDH1A3	220	broad.mit.edu	37	chr15	101432808	101432808	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagatactttgcagggTgggcagacaaaatccagggc	12	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:101432808T>C	uc002bwn.3	+	4	543	c.439T>C	c.(439-441)TGG>CGG	p.W147R	ALDH1A3_uc010bpb.2_Intron	NM_000693	NP_000684	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1A3	147					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			central_nervous_system(2)|lung(1)|pancreas(1)	4	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	CTTTGCAGGGTGGGCAGACAA	0.478													C	101432808	T	C	101432808	3	2	104	1	0	0	0	0	1	0	0	0	492	1696	59	3	453	3	ALDH1A3	15	101432808	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	760520	101432808	1098584	5297	71911											
CHSY1	22856	broad.mit.edu	37	chr15	101775542	101775542	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggggctcgctgctgttcaaActcctcaggaagttctccag	11	12	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:101775542A>C	uc002bwt.1	-	3	1044	c.561T>G	c.(559-561)AGT>AGG	p.S187R		NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	187	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity				0	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGCTGTTCAAACTCCTCAGGA	0.517													C	101775542	A	C	101775542	3	2	104	1	0	0	0	0	1	0	0	0	3412	40	2	5	1855	5	CHSY1	15	101775542	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	342734	101775542	755850	5298	71912											
OR4F6	390648	broad.mit.edu	37	chr15	102346172	102346172	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagctcccaagatgatttatGaccttttcaggaagcacaag	8	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:102346172G>A	uc010utr.1	+	1	250	c.250G>A	c.(250-252)GAC>AAC	p.D84N		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F,	84	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GATGATTTATGACCTTTTCAG	0.473													A	102346172	G	A	102346172	3	1	104	1	0	0	0	0	1	0	0	0	11066	1290	45	4	252	4	OR4F6	15	102346172	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	570630	102346172	185220	5299	71913											
OR4F6	390648	broad.mit.edu	37	chr15	102346599	102346599	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttattttggtgactgttcAgaaaaaatcttcaggtggta	9	5	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:102346599A>C	uc010utr.1	+	1	677	c.677A>C	c.(676-678)CAG>CCG	p.Q226P		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F,	226	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GTGACTGTTCAGAAAAAATCT	0.348													C	102346599	A	C	102346599	3	2	104	1	0	0	0	0	1	0	0	0	11066	188	7	5	679	5	OR4F6	15	102346599	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	427	102346599	184793	5300	71914											
OR4F6	390648	broad.mit.edu	37	chr15	102346821	102346821	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatgatggtggcaatgagaaGacgatgctctcagtttgtga	14	5	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr15:102346821G>T	uc010utr.1	+	1	899	c.899G>T	c.(898-900)AGA>ATA	p.R300I		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GCAATGAGAAGACGATGCTCT	0.313													T	102346821	G	T	102346821	3	4	104	1	0	0	0	0	1	0	0	0	11066	942	33	5	901	5	OR4F6	15	102346821	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	222	102346821	184571	5301	71915											
RAB11FIP3	9727	broad.mit.edu	37	chr16	570496	570496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagaacgaggagctgaAcgggcagatcattaccctca	13	10	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:570496A>G	uc002chf.2	+	13	2393	c.2054A>G	c.(2053-2055)AAC>AGC	p.N685S	RAB11FIP3_uc010uuf.1_Missense_Mutation_p.N389S|RAB11FIP3_uc010uug.1_Missense_Mutation_p.N420S	NM_014700	NP_055515	O75154	RFIP3_HUMAN	rab11-family interacting protein 3 isoform 1	685	Potential.				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding				0		Hepatocellular(16;0.0218)				GAGGAGCTGAACGGGCAGATC	0.597													G	570496	A	G	570496	3	3	104	1	0	0	0	0	1	0	0	0	12895	43	2	3	2123	3	RAB11FIP3	16	570496	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08		570496	89784257	5302	71916											
MSLNL	401827	broad.mit.edu	37	chr16	823249	823249	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcaagctctgcacagtcGtagtgcaccaggaagaggtc	12	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:823249G>A	uc002cjz.1	-	10	2019	c.2019C>T	c.(2017-2019)TAC>TAT	p.Y673Y		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	322	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4						CTGCACAGTCGTAGTGCACCA	0.637													A	823249	G	A	823249	2	1	104	1	0	0	0	0	0	0	0	1	9882	1140	40	1		1	MSLNL	16	823249	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	252753	823249	89531504	5303	71917											
MSLNL	401827	broad.mit.edu	37	chr16	832053	832053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccaagggcagtgggtccagGactagctggagaggcgtgac	18	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:832053G>A	uc002cjz.1	-	2	70	c.70C>T	c.(70-72)CCT>TCT	p.P24S		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	504	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4						GTGGGTCCAGGACTAGCTGGA	0.682													A	832053	G	A	832053	3	1	104	1	0	0	0	0	1	0	0	0	9882	1174	41	4	3151	4	MSLNL	16	832053	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	8804	832053	89522700	5304	71918											
SSTR5	6755	broad.mit.edu	37	chr16	1129228	1129228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcatgacgctggacggCgtcaaccagttcaccagtgt	12	12	3	1	rs35742768	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:1129228C>T	uc002ckq.2	+	1	448	c.360C>T	c.(358-360)GGC>GGT	p.G120G	LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	NM_001053	NP_001044	P35346	SSR5_HUMAN	somatostatin receptor 5	120	Helical; Name=3; (Potential).				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			lung(1)	1		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CGCTGGACGGCGTCAACCAGT	0.677													T	1129228	C	T	1129228	2	4	104	1	0	0	0	0	0	0	0	1	15200	755	27	1		1	SSTR5	16	1129228	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	297175	1129228	89225525	5305	71919											
C1QTNF8	390664	broad.mit.edu	37	chr16	1143888	1143888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggagctgtgcaggccctcGcgccggcccacggagaaggc	16	15	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:1143888G>A	uc010uuw.1	-	4	646	c.372C>T	c.(370-372)CGC>CGT	p.R124R		NM_207419	NP_997302	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	124	C1q.					collagen				skin(1)	1		Hepatocellular(780;0.00369)				GCAGGCCCTCGCGCCGGCCCA	0.761													A	1143888	G	A	1143888	2	1	104	1	0	0	0	0	0	0	0	1	1969	1074	38	1		1	C1QTNF8	16	1143888	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	14660	1143888	89210865	5306	71920											
CACNA1H	8912	broad.mit.edu	37	chr16	1270018	1270018	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccttggaagggaagattgAcagccctagggacaccctgg	13	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:1270018A>G	uc002cks.2	+	35	6334	c.6086A>G	c.(6085-6087)GAC>GGC	p.D2029G	CACNA1H_uc002ckt.2_Missense_Mutation_p.D2023G|CACNA1H_uc002cku.2_Missense_Mutation_p.D724G|CACNA1H_uc010brj.2_Missense_Mutation_p.D740G|CACNA1H_uc002ckv.2_Missense_Mutation_p.D718G	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	2029	Cytoplasmic (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GGGAAGATTGACAGCCCTAGG	0.662													G	1270018	A	G	1270018	3	3	104	1	0	0	0	0	1	0	0	0	2545	275	10	3	6220	3	CACNA1H	16	1270018	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	126130	1270018	89084735	5307	71921											
GNPTG	84572	broad.mit.edu	37	chr16	1412835	1412835	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtggttggtaggctcataaaGaactctcaaaggagatcaaa	11	6	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:1412835G>T	uc002clm.2	+	10	786	c.751G>T	c.(751-753)GAA>TAA	p.E251*		NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphotransferase, gamma	251						extracellular region|Golgi apparatus	protein binding			central_nervous_system(1)	1		Hepatocellular(780;0.0893)				GGCTCATAAAGAACTCTCAAA	0.567													T	1412835	G	T	1412835	4	4	104	1	0	0	0	0	0	1	0	0	6546	943	33	5	789	5	GNPTG	16	1412835	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	142817	1412835	88941918	5308	71922											
SPSB3	90864	broad.mit.edu	37	chr16	1828538	1828538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcacagtcacagaaggactCgccggtcacgggcaccgcac	12	15	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:1828538C>T	uc002cmr.2	-	2	235	c.202G>A	c.(202-204)GAG>AAG	p.E68K	SPSB3_uc002cms.2_5'UTR|SPSB3_uc002cmt.2_5'UTR|SPSB3_uc002cmu.2_Missense_Mutation_p.E68K|SPSB3_uc002cmv.2_5'UTR|SPSB3_uc010uvm.1_Missense_Mutation_p.E123K	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box	68					intracellular signal transduction						0						CAGAAGGACTCGCCGGTCACG	0.677													T	1828538	C	T	1828538	3	4	104	1	0	0	0	0	1	0	0	0	15113	893	31	1	885	1	SPSB3	16	1828538	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	415703	1828538	88526215	5309	71923											
NUBP2	10101	broad.mit.edu	37	chr16	1836838	1836838	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagggctgtgcaccagtgCgaccgcggctgggcacccgt	17	14	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:1836838C>T	uc002cmw.3	+	3	305	c.216C>T	c.(214-216)TGC>TGT	p.C72C	NUBP2_uc002cmx.3_Intron|NUBP2_uc010brx.2_Silent_p.C12C	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2 (MinD homolog, E.	72						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding				0						TGCACCAGTGCGACCGCGGCT	0.677													T	1836838	C	T	1836838	2	4	104	1	0	0	0	0	0	0	0	1	10716	776	27	1		1	NUBP2	16	1836838	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	8300	1836838	88517915	5310	71924											
RPL3L	6123	broad.mit.edu	37	chr16	1994856	1994856	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcctacaagtctcccgaggtCtccggcgtttccttctccag	9	16	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:1994856C>A	uc002cnh.2	-	10	1253	c.1206G>T	c.(1204-1206)GAG>GAT	p.E402D	SEPX1_uc010uvs.1_5'Flank	NM_005061	NP_005052	Q92901	RL3L_HUMAN	ribosomal protein L3-like	402					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome				0						CTCCCGAGGTCTCCGGCGTTT	0.607													A	1994856	C	A	1994856	3	1	104	1	0	0	0	0	1	0	0	0	13594	912	32	5	21	5	RPL3L	16	1994856	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	158018	1994856	88359897	5311	71925											
PKD1	5310	broad.mit.edu	37	chr16	2159869	2159869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggggaagctatgggtggTaaatggctcggaggtctccc	17	7	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:2159869T>C	uc002cos.1	-	15	5508	c.5299A>G	c.(5299-5301)ACC>GCC	p.T1767A	PKD1_uc002cot.1_Missense_Mutation_p.T1767A	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1767	PKD 13.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CTATGGGTGGTAAATGGCTCG	0.627													C	2159869	T	C	2159869	3	2	104	1	0	0	0	0	1	0	0	0	11963	1638	57	3	7740	3	PKD1	16	2159869	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	165013	2159869	88194884	5312	71926											
CASKIN1	57524	broad.mit.edu	37	chr16	2239124	2239124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggggctccagcagcgccGcacacatattgctgctgagg	14	14	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:2239124G>A	uc010bsg.1	-	6	553	c.521C>T	c.(520-522)GCG>GTG	p.A174V		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	174	ANK 4.				signal transduction	cytoplasm				skin(2)	2						CAGCAGCGCCGCACACATATT	0.657													A	2239124	G	A	2239124	3	1	104	1	0	0	0	0	1	0	0	0	2666	1087	38	1	3834	1	CASKIN1	16	2239124	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	79255	2239124	88115629	5313	71927											
C16orf79	283870	broad.mit.edu	37	chr16	2260149	2260149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcccgtcgaacagcaccGcccagctgtggttgctctga	11	15	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:2260149G>A	uc010bsh.2	-	3	491	c.314C>T	c.(313-315)GCG>GTG	p.A105V	C16orf79_uc002cpi.1_Missense_Mutation_p.A105V	NM_182563	NP_872369	Q6PL45	CP079_HUMAN	hypothetical protein LOC283870	105	BRICHOS.					integral to membrane				central_nervous_system(1)	1						GAACAGCACCGCCCAGCTGTG	0.706													A	2260149	G	A	2260149	3	1	104	1	0	0	0	0	1	0	0	0	1836	1087	38	1	388	1	C16orf79	16	2260149	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	21025	2260149	88094604	5314	71928											
ABCA3	21	broad.mit.edu	37	chr16	2349486	2349486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccctcgtacaggttgagGttcaggtctctgacggccgc	13	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:2349486G>A	uc002cpy.1	-	14	2371	c.1659C>T	c.(1657-1659)AAC>AAT	p.N553N	ABCA3_uc010bsk.1_Silent_p.N495N|ABCA3_uc010bsl.1_Silent_p.N553N	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	553	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				ACAGGTTGAGGTTCAGGTCTC	0.652													A	2349486	G	A	2349486	2	1	104	1	0	0	0	0	0	0	0	1	33	1252	44	4		4	ABCA3	16	2349486	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	89337	2349486	88005267	5315	71929											
ABCA3	21	broad.mit.edu	37	chr16	2367685	2367685	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggtcatgaaggaggcggcGatgaggaggaagaggaagaa	20	3	1	4	rs35161127	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:2367685G>A	uc002cpy.1	-	9	1666	c.954C>T	c.(952-954)ATC>ATT	p.I318I	ABCA3_uc010bsk.1_Silent_p.I318I|ABCA3_uc010bsl.1_Silent_p.I318I	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	318	Helical; (Potential).				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				AGGAGGCGGCGATGAGGAGGA	0.627													A	2367685	G	A	2367685	2	1	104	1	0	0	0	0	0	0	0	1	33	1048	37	1		1	ABCA3	16	2367685	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	18199	2367685	87987068	5316	71930											
ABCA3	21	broad.mit.edu	37	chr16	2369629	2369629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagcacgggcaatggtgaGcgcggtgtaggtgaagctga	18	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:2369629G>A	uc002cpy.1	-	8	1538	c.826C>T	c.(826-828)CTC>TTC	p.L276F	ABCA3_uc010bsk.1_Missense_Mutation_p.L276F|ABCA3_uc010bsl.1_Missense_Mutation_p.L276F	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	276	Helical; (Potential).				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				GCAATGGTGAGCGCGGTGTAG	0.622													A	2369629	G	A	2369629	3	1	104	1	0	0	0	0	1	0	0	0	33	971	34	2	4392	2	ABCA3	16	2369629	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1944	2369629	87985124	5317	71931											
CCNF	899	broad.mit.edu	37	chr16	2481197	2481197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaataaggaggaggccccGaaacctgaccatcttgagtc	11	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:2481197G>A	uc002cqd.1	+	2	171	c.83G>A	c.(82-84)CGA>CAA	p.R28Q	CCNF_uc002cqe.1_5'UTR	NM_001761	NP_001752	P41002	CCNF_HUMAN	cyclin F	28	Nuclear localization signal 1.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			central_nervous_system(1)|kidney(1)	2		Ovarian(90;0.17)				AGGAGGCCCCGAAACCTGACC	0.488													A	2481197	G	A	2481197	3	1	104	1	0	0	0	0	1	0	0	0	2922	1058	37	1	89	1	CCNF	16	2481197	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	111568	2481197	87873556	5318	71932											
CCNF	899	broad.mit.edu	37	chr16	2503465	2503465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtgacacaagacagccccGaccccccgactttcctcagc	8	18	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:2503465G>A	uc002cqd.1	+	15	1730	c.1642G>A	c.(1642-1644)GAC>AAC	p.D548N	CCNF_uc002cqe.1_Missense_Mutation_p.D240N	NM_001761	NP_001752	P41002	CCNF_HUMAN	cyclin F	548					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			central_nervous_system(1)|kidney(1)	2		Ovarian(90;0.17)				AGACAGCCCCGACCCCCCGAC	0.617													A	2503465	G	A	2503465	3	1	104	1	0	0	0	0	1	0	0	0	2922	1058	37	1	1700	1	CCNF	16	2503465	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	22268	2503465	87851288	5319	71933											
PDPK1	5170	broad.mit.edu	37	chr16	2627488	2627488	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagctgctcacggagaagTccgcctgtaagaggtaacca	12	11	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:2627488T>G	uc002cqs.2	+	7	916	c.772T>G	c.(772-774)TCC>GCC	p.S258A	PDPK1_uc002cqt.2_Missense_Mutation_p.S131A|PDPK1_uc010bsn.2_Missense_Mutation_p.S258A|PDPK1_uc002cqu.2_Missense_Mutation_p.S231A|PDPK1_uc002cqv.1_Missense_Mutation_p.S231A	NM_002613	NP_002604	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	258	Protein kinase.				actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|ovary(1)	3		Ovarian(90;0.17)			Celecoxib(DB00482)	CACGGAGAAGTCCGCCTGTAA	0.483													G	2627488	T	G	2627488	3	3	104	1	0	0	0	0	1	0	0	0	11687	1667	58	5	798	5	PDPK1	16	2627488	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	124023	2627488	87727265	5320	71934											
SRRM2	23524	broad.mit.edu	37	chr16	2812791	2812791	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgaagaaatctcgcatTtcttcaaggcggagcaggtc	11	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:2812791T>G	uc002crk.2	+	11	2811	c.2262T>G	c.(2260-2262)ATT>ATG	p.I754M	SRRM2_uc002crj.1_Missense_Mutation_p.I658M|SRRM2_uc002crl.1_Missense_Mutation_p.I754M|SRRM2_uc010bsu.1_Missense_Mutation_p.I658M	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	754	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						AATCTCGCATTTCTTCAAGGC	0.488													G	2812791	T	G	2812791	3	3	104	1	0	0	0	0	1	0	0	0	15168	1829	64	5	2300	5	SRRM2	16	2812791	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	185303	2812791	87541962	5321	71935											
SRRM2	23524	broad.mit.edu	37	chr16	2817372	2817372	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcggtggcaccttcggcTgtgaacctggctgaccctcg	13	14	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:2817372T>C	uc002crk.2	+	11	7392	c.6843T>C	c.(6841-6843)GCT>GCC	p.A2281A	SRRM2_uc002crj.1_Silent_p.A2185A|SRRM2_uc002crl.1_Silent_p.A2281A|SRRM2_uc010bsu.1_Silent_p.A2185A	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2281	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CACCTTCGGCTGTGAACCTGG	0.632													C	2817372	T	C	2817372	2	2	104	1	0	0	0	0	0	0	0	1	15168	1567	55	3		3	SRRM2	16	2817372	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	4581	2817372	87537381	5322	71936											
CLDN6	9074	broad.mit.edu	37	chr16	3065372	3065372	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctccacgtcagacgtaattCttggtagggtactcagaggg	12	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:3065372C>A	uc002csu.3	-	2	711	c.651G>T	c.(649-651)AAG>AAT	p.K217N		NM_021195	NP_067018	P56747	CLD6_HUMAN	claudin 6	217	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						AGACGTAATTCTTGGTAGGGT	0.617													A	3065372	C	A	3065372	3	1	104	1	0	0	0	0	1	0	0	0	3489	912	32	5	15	5	CLDN6	16	3065372	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	248000	3065372	87289381	5323	71937											
ZNF263	10127	broad.mit.edu	37	chr16	3340119	3340119	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acacctcgtcattcacgaaaGaactcatgagagagagagac	9	10	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:3340119G>T	uc002cuq.2	+	6	1945	c.1613G>T	c.(1612-1614)AGA>ATA	p.R538I	ZNF263_uc010uww.1_Missense_Mutation_p.R186I|ZNF263_uc002cur.2_Missense_Mutation_p.R186I	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	538	C2H2-type 5.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(3)|ovary(1)	4						ATTCACGAAAGAACTCATGAG	0.507													T	3340119	G	T	3340119	3	4	104	1	0	0	0	0	1	0	0	0	17800	942	33	5	1635	5	ZNF263	16	3340119	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	274747	3340119	87014634	5324	71938											
TIGD7	91151	broad.mit.edu	37	chr16	3349373	3349373	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctataatccccatgttctaaGccttgaaaatcatattcagg	5	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:3349373G>A	uc002cus.2	-	1	2028	c.1242C>T	c.(1240-1242)GGC>GGT	p.G414G	ZNF263_uc002cur.2_3'UTR	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	414					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						CATGTTCTAAGCCTTGAAAAT	0.353													A	3349373	G	A	3349373	2	1	104	1	0	0	0	0	0	0	0	1	15898	958	34	2		2	TIGD7	16	3349373	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	9254	3349373	87005380	5325	71939											
TIGD7	91151	broad.mit.edu	37	chr16	3349597	3349597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttccatctatacagccGtttgcagctcaagatcacac	6	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:3349597G>A	uc002cus.2	-	1	1804	c.1018C>T	c.(1018-1020)CGG>TGG	p.R340W	ZNF263_uc002cur.2_3'UTR	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	340	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						CTATACAGCCGTTTGCAGCTC	0.274													A	3349597	G	A	3349597	3	1	104	1	0	0	0	0	1	0	0	0	15898	1144	40	1	635	1	TIGD7	16	3349597	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	224	3349597	87005156	5326	71940											
ZNF597	146434	broad.mit.edu	37	chr16	3486471	3486471	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttatgagtaatgagatgcaAattcgacttgaaagttttcc	8	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:3486471A>G	uc002cvd.2	-	4	1412	c.1228T>C	c.(1228-1230)TTG>CTG	p.L410L		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	zinc finger protein 597	410	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATGAGATGCAAATTCGACTTG	0.378													G	3486471	A	G	3486471	2	3	104	1	0	0	0	0	0	0	0	1	18024	11	1	3		3	ZNF597	16	3486471	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	136874	3486471	86868282	5327	71941											
BTBD12	84464	broad.mit.edu	37	chr16	3644567	3644567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgggttattgaccatggCgccaaagtcagcaaccagca	12	10	1	1	rs115866745	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:3644567C>T	uc002cvp.2	-	10	2674	c.2047G>A	c.(2047-2049)GCC>ACC	p.A683T		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	683					DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						TTGACCATGGCGCCAAAGTCA	0.592								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				T	3644567	C	T	3644567	3	4	104	1	0	0	0	0	1	0	0	0	1540	768	27	1	3481	1	BTBD12	16	3644567	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	158096	3644567	86710186	5328	71942											
TRAP1	10131	broad.mit.edu	37	chr16	3713498	3713498	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtctccacagagatcagcttCttcttgtcaaactcacgaag	7	12	6	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:3713498C>T	uc002cvt.3	-	14	1724	c.1635G>A	c.(1633-1635)AAG>AAA	p.K545K	TRAP1_uc002cvs.2_Silent_p.K336K|TRAP1_uc010uxf.1_Silent_p.K492K|uc002cvu.2_RNA	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	545					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)				AGATCAGCTTCTTCTTGTCAA	0.552													T	3713498	C	T	3713498	2	4	104	1	0	0	0	0	0	0	0	1	16452	912	32	4		4	TRAP1	16	3713498	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	68931	3713498	86641255	5329	71943											
CREBBP	1387	broad.mit.edu	37	chr16	3807913	3807913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatagactcgggatgtcttgCgattatagagccaggcattg	12	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:3807913C>T	uc002cvv.2	-	18	3710	c.3506G>A	c.(3505-3507)CGC>CAC	p.R1169H	CREBBP_uc002cvw.2_Missense_Mutation_p.R1131H	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1169	Bromo.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGATGTCTTGCGATTATAGAG	0.512			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				T	3807913	C	T	3807913	3	4	104	1	0	0	0	0	1	0	0	0	3861	768	27	1	3878	1	CREBBP	16	3807913	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	94415	3807913	86546840	5330	71944											
CREBBP	1387	broad.mit.edu	37	chr16	3900321	3900321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccatgcctcctgcctgtgCggtgttcagtcccgcgtgac	13	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:3900321C>T	uc002cvv.2	-	2	979	c.775G>A	c.(775-777)GCA>ACA	p.A259T	CREBBP_uc002cvw.2_Missense_Mutation_p.A259T	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	259	Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCTGCCTGTGCGGTGTTCAGT	0.577			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				T	3900321	C	T	3900321	3	4	104	1	0	0	0	0	1	0	0	0	3861	768	27	1	6673	1	CREBBP	16	3900321	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	92408	3900321	86454432	5331	71945											
ADCY9	115	broad.mit.edu	37	chr16	4015871	4015871	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctctatggctttgccaaatcGacccctttcttcggctttga	7	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:4015871G>T	uc002cvx.2	-	11	4506	c.3967C>A	c.(3967-3969)CGA>AGA	p.R1323R		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	1323	Cytoplasmic (Potential).			QHQLSISPDIRVQVDGSIGRSPTDEIANLVPSVQYVDKTSL GSDSSTQAKDAHLSPKRPWKEPVKAEERGRFGKAIEKDDCD ETGIEEANELTKLNVSKSV -> APAVHLPRHPRPGGWQHR TVSHRRDCQPGAFCPVCGQDISGF (in Ref. 1; AAC24201).	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						TTGCCAAATCGACCCCTTTCT	0.537													T	4015871	G	T	4015871	2	4	104	1	0	0	0	0	0	0	0	1	301	1066	37	5		5	ADCY9	16	4015871	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	115550	4015871	86338882	5332	71946											
ADCY9	115	broad.mit.edu	37	chr16	4016451	4016451	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggtgctcctgcgggtgGctgccgtcctgggcctgcgc	17	14	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:4016451G>A	uc002cvx.2	-	11	3926	c.3387C>T	c.(3385-3387)AGC>AGT	p.S1129S		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	1129	Guanylate cyclase 2.|Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						CCTGCGGGTGGCTGCCGTCCT	0.587													A	4016451	G	A	4016451	2	1	104	1	0	0	0	0	0	0	0	1	301	1194	42	2		2	ADCY9	16	4016451	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	580	4016451	86338302	5333	71947											
GLIS2	84662	broad.mit.edu	37	chr16	4383520	4383520	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccagtgcccagtgcctcGgtaaggaggggtgagagttc	15	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:4383520G>A	uc002cwc.1	+	2	402	c.345G>A	c.(343-345)TCG>TCA	p.S115S		NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	115	Transcription activation (By similarity).|Interaction with CTNND1 (By similarity).				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding				0						CCAGTGCCTCGGTAAGGAGGG	0.453													A	4383520	G	A	4383520	2	1	104	1	0	0	0	0	0	0	0	1	6446	1130	39	1		1	GLIS2	16	4383520	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	367069	4383520	85971233	5334	71948											
NAGPA	51172	broad.mit.edu	37	chr16	5081783	5081783	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcacactctgtggcttggctCtcgttgatgtagatgcttcc	10	11	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:5081783C>A	uc002cyg.2	-	3	666	c.645G>T	c.(643-645)GAG>GAT	p.E215D	ALG1_uc002cyj.2_5'Flank|NAGPA_uc010buc.2_5'Flank|NAGPA_uc002cyf.2_Missense_Mutation_p.E73D|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_Intron|NAGPA_uc010uxx.1_3'UTR	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester	215	Lumenal (Potential).				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity				0					N-Acetyl-D-glucosamine(DB00141)	TGGCTTGGCTCTCGTTGATGT	0.572													A	5081783	C	A	5081783	3	1	104	1	0	0	0	0	1	0	0	0	10144	912	32	5	934	5	NAGPA	16	5081783	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	698263	5081783	85272970	5335	71949											
C16orf89	146556	broad.mit.edu	37	chr16	5105290	5105290	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtttctgccagctgagAatggcctccagccaccggag	12	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:5105290A>C	uc010bud.2	-	6	1027	c.939T>G	c.(937-939)ATT>ATG	p.I313M	ALG1_uc002cyj.2_Intron|C16orf89_uc002cyk.3_Missense_Mutation_p.I313M	NM_152459	NP_689672	Q6UX73	CP089_HUMAN	hypothetical protein LOC146556 isoform 1	275						extracellular region				ovary(1)|skin(1)	2						GCCAGCTGAGAATGGCCTCCA	0.637													C	5105290	A	C	5105290	3	2	104	1	0	0	0	0	1	0	0	0	1842	242	9	5	530	5	C16orf89	16	5105290	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	23507	5105290	85249463	5336	71950											
A2BP1	54715	broad.mit.edu	37	chr16	7759064	7759064	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattttcctttcagttacggAcgagtttatgctgccgaccc	8	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:7759064A>G	uc002cys.2	+	15	1990	c.1002A>G	c.(1000-1002)GGA>GGG	p.G334G	A2BP1_uc002cyt.2_Silent_p.G307G|A2BP1_uc010uxz.1_Silent_p.G377G|A2BP1_uc010uya.1_Missense_Mutation_p.D309G|A2BP1_uc010uyb.1_Silent_p.G334G|A2BP1_uc002cyw.2_Missense_Mutation_p.D373G|A2BP1_uc002cyy.2_Silent_p.G355G|A2BP1_uc002cyx.2_Silent_p.G355G|A2BP1_uc010uyc.1_Silent_p.G328G	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	334					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		TCAGTTACGGACGAGTTTATG	0.458													G	7759064	A	G	7759064	2	3	104	1	0	0	0	0	0	0	0	1	3	275	10	3		3	A2BP1	16	7759064	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2653774	7759064	82595689	5337	71951											
USP7	7874	broad.mit.edu	37	chr16	8988445	8988445	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaaatttacttcatacTcgtcttcatttatgtactgg	4	9	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:8988445T>G	uc002czl.2	-	30	3363	c.3164A>C	c.(3163-3165)GAG>GCG	p.E1055A	USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.E956A|USP7_uc002czk.2_Missense_Mutation_p.E1039A	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	1055					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						TACTTCATACTCGTCTTCATT	0.423													G	8988445	T	G	8988445	3	3	104	1	0	0	0	0	1	0	0	0	17085	1551	54	5	152	5	USP7	16	8988445	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1229381	8988445	81366308	5338	71952											
USP7	7874	broad.mit.edu	37	chr16	9000408	9000408	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atctgttttttgcaaaaattCatcaagtggtaactgctctg	7	7	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:9000408C>A	uc002czl.2	-	13	1502	c.1303G>T	c.(1303-1305)GAA>TAA	p.E435*	USP7_uc010uyk.1_Nonsense_Mutation_p.E336*|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Nonsense_Mutation_p.E336*|USP7_uc002czk.2_Nonsense_Mutation_p.E419*|USP7_uc010uyl.1_RNA	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	435					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						TGCAAAAATTCATCAAGTGGT	0.318													A	9000408	C	A	9000408	4	1	104	1	0	0	0	0	0	1	0	0	17085	835	29	5	2081	5	USP7	16	9000408	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	11963	9000408	81354345	5339	71953											
C16orf72	29035	broad.mit.edu	37	chr16	9196898	9196898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aattcagattggctatcagcGacgcaataaggatgtgttgg	12	6	2	1	rs137974792	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:9196898G>A	uc002czm.2	+	3	730	c.365G>A	c.(364-366)CGA>CAA	p.R122Q		NM_014117	NP_054836	Q14CZ0	CP072_HUMAN	hypothetical protein LOC29035	122								p.R122Q(1)		large_intestine(1)	1						GGCTATCAGCGACGCAATAAG	0.393													A	9196898	G	A	9196898	3	1	104	1	0	0	0	0	1	0	0	0	1831	1058	37	1	375	1	C16orf72	16	9196898	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	196490	9196898	81157855	5340	71954											
GRIN2A	2903	broad.mit.edu	37	chr16	9916169	9916169	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctactcctttctgattaaatTtggtcatgtactgatgcatg	7	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:9916169T>G	uc002czo.3	-	10	2668	c.2120A>C	c.(2119-2121)AAA>ACA	p.K707T	GRIN2A_uc010uym.1_Missense_Mutation_p.K707T|GRIN2A_uc010uyn.1_Missense_Mutation_p.K550T|GRIN2A_uc002czr.3_Missense_Mutation_p.K707T	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	707	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTGATTAAATTTGGTCATGTA	0.463													G	9916169	T	G	9916169	3	3	104	1	0	0	0	0	1	0	0	0	6779	1841	64	5	2290	5	GRIN2A	16	9916169	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	719271	9916169	80438584	5341	71955											
NUBP1	4682	broad.mit.edu	37	chr16	10861865	10861865	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccagattccccagccacgTtagcctacagaagtataatt	6	14	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:10861865T>C	uc002daa.1	+	10	903	c.880T>C	c.(880-882)TTA>CTA	p.L294L	FAM18A_uc010uyr.1_Intron|FAM18A_uc010uys.1_Intron|FAM18A_uc010uyt.1_Intron|FAM18A_uc010bun.2_Intron|FAM18A_uc010uyu.1_Intron|FAM18A_uc002dad.3_Intron|FAM18A_uc010buo.1_3'UTR|FAM18A_uc002daf.1_RNA|NUBP1_uc002dab.1_Silent_p.L283L|FAM18A_uc002dae.1_3'UTR	NM_002484	NP_002475	P53384	NUBP1_HUMAN	nucleotide binding protein 1	294					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			ovary(1)|skin(1)	2						CCCAGCCACGTTAGCCTACAG	0.443													C	10861865	T	C	10861865	2	2	104	1	0	0	0	0	0	0	0	1	10715	1722	60	3		3	NUBP1	16	10861865	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	945696	10861865	79492888	5342	71956											
CIITA	4261	broad.mit.edu	37	chr16	10998602	10998602	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcttctccatctccagaGcacaagacgtcccccaccca	5	20	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:10998602G>A	uc002dai.3	+	10	1072	c.939G>A	c.(937-939)GAG>GAA	p.E313E	CIITA_uc002daj.3_Silent_p.E314E|CIITA_uc002dak.3_Silent_p.E264E|CIITA_uc002dag.2_Silent_p.E313E|CIITA_uc002dah.2_Silent_p.E265E|CIITA_uc010bup.1_Silent_p.E313E	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	313					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						CATCTCCAGAGCACAAGACGT	0.602			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								A	10998602	G	A	10998602	2	1	104	1	0	0	0	0	0	0	0	1	3428	985	34	2		2	CIITA	16	10998602	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	136737	10998602	79356151	5343	71957											
CIITA	4261	broad.mit.edu	37	chr16	11000864	11000864	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacggcttcgaggagctggaAgcgcaagatggcttcctgca	15	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:11000864A>C	uc002dai.3	+	11	1648	c.1515A>C	c.(1513-1515)GAA>GAC	p.E505D	CIITA_uc002daj.3_Missense_Mutation_p.E506D|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.E505D|CIITA_uc002dah.2_Missense_Mutation_p.E457D|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	505	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						AGGAGCTGGAAGCGCAAGATG	0.647			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								C	11000864	A	C	11000864	3	2	104	1	0	0	0	0	1	0	0	0	3428	69	3	5	1557	5	CIITA	16	11000864	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2262	11000864	79353889	5344	71958											
CLEC16A	23274	broad.mit.edu	37	chr16	11071150	11071150	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgcactatctcaatgAcatcctgatcatcaactgtg	5	14	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:11071150A>G	uc002dao.2	+	8	1027	c.797A>G	c.(796-798)GAC>GGC	p.D266G	CLEC16A_uc002dan.3_Missense_Mutation_p.D264G	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	266										ovary(1)|central_nervous_system(1)	2						TATCTCAATGACATCCTGATC	0.537													G	11071150	A	G	11071150	3	3	104	1	0	0	0	0	1	0	0	0	3500	275	10	3	823	3	CLEC16A	16	11071150	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	70286	11071150	79283603	5345	71959											
C16orf75	116028	broad.mit.edu	37	chr16	11444642	11444642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatttacacaggaatattCcttagagtatgttggaactg	9	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:11444642C>T	uc002daw.1	+	2	457	c.439C>T	c.(439-441)CCT>TCT	p.P147S	C16orf75_uc002daq.1_RNA	NM_152308	NP_689521	Q96E14	RMI2_HUMAN	RecQ-mediated genome instability protein 2	147					DNA replication	nucleus	DNA binding				0						CAGGAATATTCCTTAGAGTAT	0.398			T	CIITA	PMBL|Hodgkin Lymphona|								T	11444642	C	T	11444642	3	4	104	1	0	0	0	0	1	0	0	0	1834	855	30	4	445	4	C16orf75	16	11444642	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	373492	11444642	78910111	5346	71960											
ZC3H7A	29066	broad.mit.edu	37	chr16	11862354	11862354	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaactacctggtccatTcatctgcaagaaaaataaga	5	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:11862354T>C	uc002dbk.2	-	11	1375	c.1177A>G	c.(1177-1179)AAT>GAT	p.N393D	ZC3H7A_uc002dbj.2_5'Flank|ZC3H7A_uc002dbl.2_Missense_Mutation_p.N393D|ZC3H7A_uc002dbm.1_Missense_Mutation_p.N303D	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	393						nucleus	nucleic acid binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						CCTGGTCCATTCATCTGCAAG	0.328													C	11862354	T	C	11862354	3	2	104	1	0	0	0	0	1	0	0	0	17569	1783	62	3	1786	3	ZC3H7A	16	11862354	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	417712	11862354	78492399	5347	71961											
RSL1D1	26156	broad.mit.edu	37	chr16	11931697	11931697	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccattttttgggggtgtgggAagcttttctcacagatttac	11	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:11931697A>G	uc002dbp.1	-	9	1493	c.1420T>C	c.(1420-1422)TCC>CCC	p.S474P	RSL1D1_uc010buv.1_Missense_Mutation_p.S473P|RSL1D1_uc010uyw.1_Missense_Mutation_p.S254P	NM_015659	NP_056474	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	474					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0						GGGGTGTGGGAAGCTTTTCTC	0.343													G	11931697	A	G	11931697	3	3	104	1	0	0	0	0	1	0	0	0	13700	246	9	3	56	3	RSL1D1	16	11931697	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	69343	11931697	78423056	5348	71962											
SNX29	92017	broad.mit.edu	37	chr16	12293490	12293490	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcaaagtccaactgaagaAatatgtaggagctgtccaga	10	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:12293490A>C	uc002dby.3	+	7	529	c.473A>C	c.(472-474)AAA>ACA	p.K158T	SNX29_uc010uyx.1_Missense_Mutation_p.K185T	NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	158	Potential.				cell communication		phosphatidylinositol binding			ovary(1)	1						CAACTGAAGAAATATGTAGGA	0.478													C	12293490	A	C	12293490	3	2	104	1	0	0	0	0	1	0	0	0	14898	14	1	5	495	5	SNX29	16	12293490	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	361793	12293490	78061263	5349	71963											
CPPED1	55313	broad.mit.edu	37	chr16	12758897	12758897	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctggcatccaatggcagatGacaccaccatgtcgaggttc	11	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:12758897G>T	uc002dca.3	-	4	902	c.791C>A	c.(790-792)TCA>TAA	p.S264*	CPPED1_uc002dcb.3_Nonsense_Mutation_p.S122*|CPPED1_uc002dbz.3_RNA	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain	264							hydrolase activity|metal ion binding				0						AATGGCAGATGACACCACCAT	0.547													T	12758897	G	T	12758897	4	4	104	1	0	0	0	0	0	1	0	0	3822	1294	45	5	157	5	CPPED1	16	12758897	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	465407	12758897	77595856	5350	71964											
CPPED1	55313	broad.mit.edu	37	chr16	12798748	12798748	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgacccagaagctgaagtAgtcatctccccaagtccggc	9	16	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:12798748A>G	uc002dca.3	-	3	559	c.448T>C	c.(448-450)TAC>CAC	p.Y150H	CPPED1_uc002dcb.3_Intron|CPPED1_uc002dbz.3_RNA	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain	150							hydrolase activity|metal ion binding				0						AAGCTGAAGTAGTCATCTCCC	0.612													G	12798748	A	G	12798748	3	3	104	1	0	0	0	0	1	0	0	0	3822	420	15	3	504	3	CPPED1	16	12798748	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	39851	12798748	77556005	5351	71965											
ERCC4	2072	broad.mit.edu	37	chr16	14029335	14029335	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtcgaggaaggatatcgtCgagaaataagcagtagccca	12	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:14029335C>T	uc002dce.2	+	8	1555	c.1546C>T	c.(1546-1548)CGA>TGA	p.R516*	ERCC4_uc010uyz.1_Nonsense_Mutation_p.R66*	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	516					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			lung(4)|ovary(3)|skin(2)|pancreas(1)	10						AGGATATCGTCGAGAAATAAG	0.413			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				T	14029335	C	T	14029335	4	4	104	1	0	0	0	0	0	1	0	0	5215	876	31	1	1576	1	ERCC4	16	14029335	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1230587	14029335	76325418	5352	71966											
MKL2	57496	broad.mit.edu	37	chr16	14307444	14307444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agattcggagtcgaccagatCgttctgaacttgtcaggatg	12	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:14307444C>T	uc010uza.1	+	6	474	c.319C>T	c.(319-321)CGT>TGT	p.R107C	MKL2_uc002dcg.2_Missense_Mutation_p.R107C|MKL2_uc002dch.2_Missense_Mutation_p.R96C|MKL2_uc010uzb.1_Missense_Mutation_p.R56C	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	96	RPEL 2.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5						TCGACCAGATCGTTCTGAACT	0.294													T	14307444	C	T	14307444	3	4	104	1	0	0	0	0	1	0	0	0	9602	884	31	1	333	1	MKL2	16	14307444	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	278109	14307444	76047309	5353	71967											
PARN	5073	broad.mit.edu	37	chr16	14711452	14711452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacccataatcttaccatttCgaaaaactttattaaaatca	1	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:14711452C>T	uc010uzd.1	-	6	525	c.383G>A	c.(382-384)CGA>CAA	p.R128Q	PARN_uc010uzc.1_Missense_Mutation_p.R67Q|PARN_uc010uze.1_Missense_Mutation_p.R82Q|PARN_uc010uzf.1_Intron|PARN_uc010uzg.1_RNA	NM_002582	NP_002573	O95453	PARN_HUMAN	poly(A)-specific ribonuclease (deadenylation	128					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			ovary(2)	2						CTTACCATTTCGAAAAACTTT	0.363													T	14711452	C	T	14711452	3	4	104	1	0	0	0	0	1	0	0	0	11453	884	31	1	1612	1	PARN	16	14711452	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	404008	14711452	75643301	5354	71968											
BFAR	51283	broad.mit.edu	37	chr16	14755907	14755907	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacagctctggggaggacatCgtcaccaagcttctggtagg	14	10	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:14755907C>T	uc002dco.2	+	6	1223	c.942C>T	c.(940-942)ATC>ATT	p.I314I	BFAR_uc002dcp.2_Silent_p.I189I|BFAR_uc010uzh.1_Silent_p.I186I	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	314	Lumenal (Potential).				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			ovary(1)|skin(1)	2						GGGAGGACATCGTCACCAAGC	0.498													T	14755907	C	T	14755907	2	4	104	1	0	0	0	0	0	0	0	1	1414	874	31	1		1	BFAR	16	14755907	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	44455	14755907	75598846	5355	71969											
NOMO1	23420	broad.mit.edu	37	chr16	14983060	14983060	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cataaacacatcaccttgatTtttaatcccacggtaagtaa	4	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:14983060T>G	uc002dcv.2	+	29	3498	c.3432T>G	c.(3430-3432)ATT>ATG	p.I1144M		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	1144	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1						TCACCTTGATTTTTAATCCCA	0.318													G	14983060	T	G	14983060	3	3	104	1	0	0	0	0	1	0	0	0	10531	1829	64	5	3546	5	NOMO1	16	14983060	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	227153	14983060	75371693	5356	71970											
NDE1	54820	broad.mit.edu	37	chr16	15781232	15781232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcttttctcttcgccagCgccacgatcatgtctctcga	7	15	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:15781232C>T	uc002ddt.1	+	4	430	c.387C>T	c.(385-387)CGC>CGT	p.R129R	NDE1_uc010uzy.1_Silent_p.R129R|NDE1_uc002dds.2_Silent_p.R129R|NDE1_uc002ddu.1_Silent_p.S66S	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	nuclear distribution gene E homolog 1	129	Interaction with PAFAH1B1 (By similarity).|Potential.				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			ovary(1)	1						TCTTCGCCAGCGCCACGATCA	0.458													T	15781232	C	T	15781232	2	4	104	1	0	0	0	0	0	0	0	1	10243	782	27	1		1	NDE1	16	15781232	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	798172	15781232	74573521	5357	71971											
MYH11	4629	broad.mit.edu	37	chr16	15835523	15835523	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcaggttcttctcctcggTcagctgcacgcaggtggtgg	14	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:15835523T>C	uc002ddy.2	-	22	2763	c.2656A>G	c.(2656-2658)ACC>GCC	p.T886A	MYH11_uc002ddv.2_Missense_Mutation_p.T893A|MYH11_uc002ddw.2_Missense_Mutation_p.T886A|MYH11_uc002ddx.2_Missense_Mutation_p.T893A|MYH11_uc010bvg.2_Missense_Mutation_p.T718A	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	886	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						TTCTCCTCGGTCAGCTGCACG	0.637			T	CBFB	AML								C	15835523	T	C	15835523	3	2	104	1	0	0	0	0	1	0	0	0	10031	1667	58	3	3377	3	MYH11	16	15835523	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	54291	15835523	74519230	5358	71972											
MYH11	4629	broad.mit.edu	37	chr16	15880505	15880505	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accgtgatacttgtgtctttCttgcccttgtgggaggaggc	13	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:15880505C>A	uc002ddy.2	-	5	722	c.615G>T	c.(613-615)AAG>AAT	p.K205N	MYH11_uc002ddv.2_Missense_Mutation_p.K205N|MYH11_uc002ddw.2_Missense_Mutation_p.K205N|MYH11_uc002ddx.2_Missense_Mutation_p.K205N|MYH11_uc010bvg.2_Nonsense_Mutation_p.E31*|MYH11_uc002deb.3_Missense_Mutation_p.K205N	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	205	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						TTGTGTCTTTCTTGCCCTTGT	0.537			T	CBFB	AML								A	15880505	C	A	15880505	3	1	104	1	0	0	0	0	1	0	0	0	10031	912	32	5	5511	5	MYH11	16	15880505	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	44982	15880505	74474248	5359	71973											
ARL6IP1	23204	broad.mit.edu	37	chr16	18810043	18810043	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaacaccaaagaaaccacAcccatgatggcaggtggaaa	9	10	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:18810043A>G	uc002dfl.1	-	2	219	c.150T>C	c.(148-150)GGT>GGC	p.G50G	ARL6IP1_uc010van.1_Silent_p.G21G|ARL6IP1_uc010bvz.1_RNA	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting	50	Helical; (Potential).					integral to membrane	protein binding				0						AAGAAACCACACCCATGATGG	0.428													G	18810043	A	G	18810043	2	3	104	1	0	0	0	0	0	0	0	1	942	146	6	3		3	ARL6IP1	16	18810043	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2929538	18810043	71544710	5360	71974											
SMG1	23049	broad.mit.edu	37	chr16	18841653	18841653	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttcatcaactgaaccatttCtcggttggattaattcaccg	6	10	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:18841653C>A	uc002dfm.2	-	52	9194	c.8831G>T	c.(8830-8832)AGA>ATA	p.R2944I	SMG1_uc010bwb.2_Missense_Mutation_p.R2804I|SMG1_uc010bwa.2_Missense_Mutation_p.R1675I	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2944					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						TGAACCATTTCTCGGTTGGAT	0.408													A	18841653	C	A	18841653	3	1	104	1	0	0	0	0	1	0	0	0	14795	913	32	5	2202	5	SMG1	16	18841653	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	31610	18841653	71513100	5361	71975											
SMG1	23049	broad.mit.edu	37	chr16	18856860	18856860	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttatcctgaaaccattttTcatgaggtgtttctgcagga	9	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:18856860T>C	uc002dfm.2	-	39	6473	c.6110A>G	c.(6109-6111)GAA>GGA	p.E2037G	SMG1_uc010bwb.2_Missense_Mutation_p.E1897G|SMG1_uc010bwa.2_Missense_Mutation_p.E768G|SMG1_uc002dfo.3_Missense_Mutation_p.E335G	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2037					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						AAACCATTTTTCATGAGGTGT	0.468													C	18856860	T	C	18856860	3	2	104	1	0	0	0	0	1	0	0	0	14795	1783	62	3	4975	3	SMG1	16	18856860	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	15207	18856860	71497893	5362	71976											
SMG1	23049	broad.mit.edu	37	chr16	18880520	18880520	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcccatatggcccactgCcaaaggacagcatctgtctt	8	14	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:18880520C>T	uc002dfm.2	-	20	3102	c.2739G>A	c.(2737-2739)TGG>TGA	p.W913*	SMG1_uc010bwb.2_Nonsense_Mutation_p.W773*	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	913	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						TGGCCCACTGCCAAAGGACAG	0.478													T	18880520	C	T	18880520	4	4	104	1	0	0	0	0	0	1	0	0	14795	740	26	2	8422	2	SMG1	16	18880520	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	23660	18880520	71474233	5363	71977											
C16orf88	400506	broad.mit.edu	37	chr16	19725601	19725601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttatggggatgtattccgGagcctcaactttgactggct	11	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:19725601G>A	uc002dgq.2	-	2	772	c.757C>T	c.(757-759)CCG>TCG	p.P253S	IQCK_uc002dgr.2_5'Flank|IQCK_uc002dgs.2_5'Flank	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	hypothetical protein LOC400506	253	Lys-rich.					nucleolus					0						ATGTATTCCGGAGCCTCAACT	0.532													A	19725601	G	A	19725601	3	1	104	1	0	0	0	0	1	0	0	0	1841	1174	41	4	635	4	C16orf88	16	19725601	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	845081	19725601	70629152	5364	71978											
C16orf88	400506	broad.mit.edu	37	chr16	19726316	19726316	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actttcttcttctttttcttCtctgggagcccaaggtctac	6	12	6	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:19726316C>T	uc002dgq.2	-	2	57	c.42G>A	c.(40-42)GAG>GAA	p.E14E	IQCK_uc002dgr.2_5'Flank|IQCK_uc002dgs.2_5'Flank|IQCK_uc010vat.1_5'Flank|IQCK_uc010bwc.2_5'Flank|IQCK_uc010vau.1_5'Flank	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	hypothetical protein LOC400506	14						nucleolus					0						TCTTTTTCTTCTCTGGGAGCC	0.383													T	19726316	C	T	19726316	2	4	104	1	0	0	0	0	0	0	0	1	1841	912	32	4		4	C16orf88	16	19726316	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	715	19726316	70628437	5365	71979											
GPRC5B	51704	broad.mit.edu	37	chr16	19883861	19883861	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcccaaagaggcccagggTccccaggaggaacagaaagt	13	12	0	2	rs11544191		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:19883861T>C	uc002dgt.2	-	2	415	c.307A>G	c.(307-309)ACC>GCC	p.T103A	GPRC5B_uc010vav.1_Missense_Mutation_p.T129A	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5,	103	Helical; Name=2; (Potential).									lung(1)|breast(1)|skin(1)	3						AGGCCCAGGGTCCCCAGGAGG	0.602													C	19883861	T	C	19883861	3	2	104	1	0	0	0	0	1	0	0	0	6725	1667	58	3	916	3	GPRC5B	16	19883861	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	157545	19883861	70470892	5366	71980											
PDILT	204474	broad.mit.edu	37	chr16	20380850	20380850	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggaagctgcggccaaatttCttgaggctttcgtaggttat	12	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:20380850C>A	uc002dhc.1	-	8	1303	c.1080G>T	c.(1078-1080)AAG>AAT	p.K360N		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	360					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1						GGCCAAATTTCTTGAGGCTTT	0.438													A	20380850	C	A	20380850	3	1	104	1	0	0	0	0	1	0	0	0	11674	912	32	5	694	5	PDILT	16	20380850	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	496989	20380850	69973903	5367	71981											
PDILT	204474	broad.mit.edu	37	chr16	20384348	20384348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgacctcagtgttgtattCgatcacaaaatctgtaaggt	8	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:20384348C>T	uc002dhc.1	-	6	1001	c.778G>A	c.(778-780)GAA>AAA	p.E260K		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	260					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1						GTGTTGTATTCGATCACAAAA	0.443													T	20384348	C	T	20384348	3	4	104	1	0	0	0	0	1	0	0	0	11674	893	31	1	1004	1	PDILT	16	20384348	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3498	20384348	69970405	5368	71982											
ACSM2A	123876	broad.mit.edu	37	chr16	20476902	20476902	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggggaaggaattaatgTggaatttcagagaactgagt	15	2	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:20476902T>C	uc010bwe.2	+	4	480	c.241T>C	c.(241-243)TGG>CGG	p.W81R	ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.W2R|ACSM2A_uc002dhf.3_Missense_Mutation_p.W81R|ACSM2A_uc002dhg.3_Missense_Mutation_p.W81R|ACSM2A_uc010vay.1_Missense_Mutation_p.W2R	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	81					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						GGAATTAATGTGGAATTTCAG	0.587													C	20476902	T	C	20476902	3	2	104	1	0	0	0	0	1	0	0	0	183	1696	59	3	247	3	ACSM2A	16	20476902	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	92554	20476902	69877851	5369	71983											
ACSM2B	348158	broad.mit.edu	37	chr16	20559486	20559486	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcccctccagcgaggcagttCtgtagatgggggaacttgta	13	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:20559486C>A	uc002dhj.3	-	9	1206	c.996G>T	c.(994-996)CAG>CAT	p.Q332H	ACSM2B_uc002dhk.3_Missense_Mutation_p.Q332H|ACSM2B_uc010bwf.1_Missense_Mutation_p.Q332H	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	332					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5						CGAGGCAGTTCTGTAGATGGG	0.517													A	20559486	C	A	20559486	3	1	104	1	0	0	0	0	1	0	0	0	184	912	32	5	765	5	ACSM2B	16	20559486	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	82584	20559486	69795267	5370	71984											
ACSM1	116285	broad.mit.edu	37	chr16	20696520	20696520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttgcatcactgacctgttCgcatgcagcccacagccacc	7	17	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:20696520C>T	uc002dhm.1	-	2	466	c.398G>A	c.(397-399)CGA>CAA	p.R133Q	ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Missense_Mutation_p.R133Q	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	133					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|skin(1)	2						CTGACCTGTTCGCATGCAGCC	0.577													T	20696520	C	T	20696520	3	4	104	1	0	0	0	0	1	0	0	0	182	884	31	1	1383	1	ACSM1	16	20696520	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	137034	20696520	69658233	5371	71985											
ACSM1	116285	broad.mit.edu	37	chr16	20696700	20696700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccattcacccaccaaaaaGctggatttggacctctcttg	8	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:20696700G>A	uc002dhm.1	-	2	286	c.218C>T	c.(217-219)GCT>GTT	p.A73V	ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Missense_Mutation_p.A73V	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	73					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|skin(1)	2						CCACCAAAAAGCTGGATTTGG	0.468													A	20696700	G	A	20696700	3	1	104	1	0	0	0	0	1	0	0	0	182	971	34	2	1563	2	ACSM1	16	20696700	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	180	20696700	69658053	5372	71986											
ACSM3	6296	broad.mit.edu	37	chr16	20781488	20781488	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaatttctccaactatgaAtccatgaaacaggacttcaa	5	10	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:20781488A>C	uc002dhr.2	+	2	319	c.132A>C	c.(130-132)GAA>GAC	p.E44D	ACSM3_uc002dhq.2_Missense_Mutation_p.E44D|ACSM3_uc010vba.1_Missense_Mutation_p.E36D	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	SA hypertension-associated homolog isoform 1	44					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			ovary(1)	1						CCAACTATGAATCCATGAAAC	0.438													C	20781488	A	C	20781488	3	2	104	1	0	0	0	0	1	0	0	0	185	98	4	5	134	5	ACSM3	16	20781488	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	84788	20781488	69573265	5373	71987											
LOC81691	81691	broad.mit.edu	37	chr16	20851123	20851123	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccctgtttcccttcagcaTtgttcagttctcttttaagg	6	13	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:20851123T>G	uc002dhv.2	+	14	1693	c.1430T>G	c.(1429-1431)ATT>AGT	p.I477S	ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.I477S|LOC81691_uc002dhw.2_Missense_Mutation_p.I220S|LOC81691_uc002dhy.3_Missense_Mutation_p.I477S	NM_030941	NP_112203	Q96IC2	REXON_HUMAN	exonuclease NEF-sp isoform 1	477						nucleolus	exonuclease activity|nucleotide binding|RNA binding			ovary(1)|kidney(1)	2						CCCTTCAGCATTGTTCAGTTC	0.448													G	20851123	T	G	20851123	3	3	104	1	0	0	0	0	1	0	0	0	8890	1493	52	5	1480	5	LOC81691	16	20851123	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	69635	20851123	69503630	5374	71988											
LOC81691	81691	broad.mit.edu	37	chr16	20851723	20851723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaaattgcaatctcagggCtctgaagaggctgtttaaaa	9	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:20851723C>T	uc002dhv.2	+	15	1822	c.1559C>T	c.(1558-1560)GCT>GTT	p.A520V	ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.A520V|LOC81691_uc002dhw.2_Missense_Mutation_p.A263V|LOC81691_uc002dhy.3_Missense_Mutation_p.A520V	NM_030941	NP_112203	Q96IC2	REXON_HUMAN	exonuclease NEF-sp isoform 1	520	RRM 1.					nucleolus	exonuclease activity|nucleotide binding|RNA binding			ovary(1)|kidney(1)	2						AATCTCAGGGCTCTGAAGAGG	0.408													T	20851723	C	T	20851723	3	4	104	1	0	0	0	0	1	0	0	0	8890	797	28	2	1613	2	LOC81691	16	20851723	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	600	20851723	69503030	5375	71989											
DNAH3	55567	broad.mit.edu	37	chr16	20974776	20974776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttgtcaggccgcaaacatCgaaggatcaccatcttctcc	7	13	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:20974776C>T	uc010vbe.1	-	53	10430	c.10430G>A	c.(10429-10431)CGA>CAA	p.R3477Q	DNAH3_uc010vbd.1_Missense_Mutation_p.R912Q	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3477					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CCGCAAACATCGAAGGATCAC	0.527													T	20974776	C	T	20974776	3	4	104	1	0	0	0	0	1	0	0	0	4603	884	31	1	1959	1	DNAH3	16	20974776	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	123053	20974776	69379977	5376	71990											
DNAH3	55567	broad.mit.edu	37	chr16	20975792	20975792	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccttgagcaagataggttcGatagaagcatccagctcttc	10	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:20975792G>A	uc010vbe.1	-	53	9414	c.9414C>T	c.(9412-9414)ATC>ATT	p.I3138I	DNAH3_uc010vbd.1_Silent_p.I573I	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3138	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AGATAGGTTCGATAGAAGCAT	0.428													A	20975792	G	A	20975792	2	1	104	1	0	0	0	0	0	0	0	1	4603	1048	37	1		1	DNAH3	16	20975792	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1016	20975792	69378961	5377	71991											
DNAH3	55567	broad.mit.edu	37	chr16	20976341	20976341	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggagcagatttcaatgttTtcctccaagtcctttttctt	7	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:20976341T>G	uc010vbe.1	-	53	8865	c.8865A>C	c.(8863-8865)GAA>GAC	p.E2955D	DNAH3_uc010vbd.1_Missense_Mutation_p.E390D	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2955	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TTTCAATGTTTTCCTCCAAGT	0.512													G	20976341	T	G	20976341	3	3	104	1	0	0	0	0	1	0	0	0	4603	1838	64	5	3524	5	DNAH3	16	20976341	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	549	20976341	69378412	5378	71992											
DNAH3	55567	broad.mit.edu	37	chr16	20976706	20976706	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caagaatttcagatccccaaGaatctttttggatacccccc	5	13	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:20976706G>T	uc010vbe.1	-	53	8500	c.8500C>A	c.(8500-8502)CTT>ATT	p.L2834I	DNAH3_uc010vbd.1_Missense_Mutation_p.L269I	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2834	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AGATCCCCAAGAATCTTTTTG	0.403													T	20976706	G	T	20976706	3	4	104	1	0	0	0	0	1	0	0	0	4603	942	33	5	3889	5	DNAH3	16	20976706	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	365	20976706	69378047	5379	71993											
DNAH3	55567	broad.mit.edu	37	chr16	20996988	20996988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatctccaaagaagaggcttCgaatgttatcatcgactatc	7	9	2	2	rs150141933		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:20996988C>T	uc010vbe.1	-	48	7076	c.7076G>A	c.(7075-7077)CGA>CAA	p.R2359Q	DNAH3_uc010vbd.1_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2359					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GAAGAGGCTTCGAATGTTATC	0.453													T	20996988	C	T	20996988	3	4	104	1	0	0	0	0	1	0	0	0	4603	884	31	1	5333	1	DNAH3	16	20996988	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	20282	20996988	69357765	5380	71994											
DNAH3	55567	broad.mit.edu	37	chr16	20999312	20999312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgaagtgccagtcaacaatcGaactgaaaatcttggttaaa	8	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:20999312G>A	uc010vbe.1	-	45	6677	c.6677C>T	c.(6676-6678)TCG>TTG	p.S2226L	DNAH3_uc010vbd.1_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2226	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GTCAACAATCGAACTGAAAAT	0.428													A	20999312	G	A	20999312	3	1	104	1	0	0	0	0	1	0	0	0	4603	1059	37	1	5744	1	DNAH3	16	20999312	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2324	20999312	69355441	5381	71995											
DNAH3	55567	broad.mit.edu	37	chr16	21136675	21136675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgaggtaaaaagctgggCgcaggtggggatccacctgt	16	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:21136675C>T	uc010vbe.1	-	9	1225	c.1225G>A	c.(1225-1227)GCC>ACC	p.A409T	DNAH3_uc002die.2_Missense_Mutation_p.A380T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	409	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AAAAGCTGGGCGCAGGTGGGG	0.522													T	21136675	C	T	21136675	3	4	104	1	0	0	0	0	1	0	0	0	4603	768	27	1	11340	1	DNAH3	16	21136675	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	137363	21136675	69218078	5382	71996											
ZP2	7783	broad.mit.edu	37	chr16	21210159	21210159	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaggctgactgtcattTtctctgcttcagtggcccct	11	12	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:21210159T>C	uc002dii.2	-	17	1952	c.1952A>G	c.(1951-1953)AAA>AGA	p.K651R	ZP2_uc010bwn.1_Missense_Mutation_p.K681R	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	651	Extracellular (Potential).				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(48;0.0573)		GACTGTCATTTTCTCTGCTTC	0.488													C	21210159	T	C	21210159	3	2	104	1	0	0	0	0	1	0	0	0	18213	1841	64	3	297	3	ZP2	16	21210159	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	73484	21210159	69144594	5383	71997											
ZP2	7783	broad.mit.edu	37	chr16	21213314	21213314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtccagagagcatgtatttCgttttcatagacgactttat	8	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:21213314C>T	uc002dii.2	-	12	1318	c.1318G>A	c.(1318-1320)GAA>AAA	p.E440K	ZP2_uc010bwn.1_Missense_Mutation_p.E479K	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	440	Extracellular (Potential).|ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(48;0.0573)		GCATGTATTTCGTTTTCATAG	0.393													T	21213314	C	T	21213314	3	4	104	1	0	0	0	0	1	0	0	0	18213	893	31	1	951	1	ZP2	16	21213314	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3155	21213314	69141439	5384	71998											
OTOA	146183	broad.mit.edu	37	chr16	21698929	21698929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagccagacatcacagagCggctccctcgggacctgcgc	11	17	1	2	rs148114778		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:21698929C>T	uc002djh.2	+	7	596	c.595C>T	c.(595-597)CGG>TGG	p.R199W	uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.R120W	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	199					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		CATCACAGAGCGGCTCCCTCG	0.473													T	21698929	C	T	21698929	3	4	104	1	0	0	0	0	1	0	0	0	11302	759	27	1	655	1	OTOA	16	21698929	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	485615	21698929	68655824	5385	71999											
UQCRC2	7385	broad.mit.edu	37	chr16	21994445	21994445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctggccagaagtcaatgGcagcaagtggaaatttggga	13	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:21994445G>A	uc002djx.2	+	14	1451	c.1315G>A	c.(1315-1317)GCA>ACA	p.A439T	UQCRC2_uc002djy.2_Nonsense_Mutation_p.W387*|UQCRC2_uc010bxa.2_RNA	NM_003366	NP_003357	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	439					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			large_intestine(2)	2				GBM - Glioblastoma multiforme(48;0.0264)		GAAGTCAATGGCAGCAAGTGG	0.388													A	21994445	G	A	21994445	3	1	104	1	0	0	0	0	1	0	0	0	17017	1203	42	2	1369	2	UQCRC2	16	21994445	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	295516	21994445	68360308	5386	72000											
VWA3A	146177	broad.mit.edu	37	chr16	22142928	22142928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggccctgaacctgcggtgtCggggcagcaggaacgttctc	16	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:22142928C>T	uc010vbq.1	+	19	1846	c.1750C>T	c.(1750-1752)CGG>TGG	p.R584W	VWA3A_uc010bxd.2_RNA|VWA3A_uc010bxc.2_Missense_Mutation_p.R592W	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	584	VWFA 1.					extracellular region				skin(1)	1				GBM - Glioblastoma multiforme(48;0.0439)		CCTGCGGTGTCGGGGCAGCAG	0.587													T	22142928	C	T	22142928	3	4	104	1	0	0	0	0	1	0	0	0	17237	875	31	1	1824	1	VWA3A	16	22142928	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	148483	22142928	68211825	5387	72001											
VWA3A	146177	broad.mit.edu	37	chr16	22149750	22149750	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaagttcagccctcccgaaaGaaaaaccaaagacacttcag	7	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:22149750G>T	uc010vbq.1	+	22	2305	c.2209G>T	c.(2209-2211)GAA>TAA	p.E737*	VWA3A_uc010bxd.2_RNA|VWA3A_uc010bxc.2_Nonsense_Mutation_p.E745*	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	737						extracellular region				skin(1)	1				GBM - Glioblastoma multiforme(48;0.0439)		CCTCCCGAAAGAAAAACCAAA	0.567													T	22149750	G	T	22149750	4	4	104	1	0	0	0	0	0	1	0	0	17237	943	33	5	2295	5	VWA3A	16	22149750	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	6822	22149750	68205003	5388	72002											
VWA3A	146177	broad.mit.edu	37	chr16	22151506	22151506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccctgacagagagaagaGccccccgctgaaatctctga	10	13	1	7			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:22151506G>A	uc010vbq.1	+	23	2420	c.2324G>A	c.(2323-2325)AGC>AAC	p.S775N	VWA3A_uc010bxd.2_RNA	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	775						extracellular region				skin(1)	1				GBM - Glioblastoma multiforme(48;0.0439)		AGAGAGAAGAGCCCCCCGCTG	0.532													A	22151506	G	A	22151506	3	1	104	1	0	0	0	0	1	0	0	0	17237	971	34	2	2414	2	VWA3A	16	22151506	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1756	22151506	68203247	5389	72003											
CDR2	1039	broad.mit.edu	37	chr16	22361162	22361162	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtagaagttccacttgcttCgtcagatactgtaagagaag	10	8	1	3	rs145559710		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:22361162C>T	uc002dkn.2	-	3	509	c.201G>A	c.(199-201)ACG>ACA	p.T67T		NM_001802	NP_001793	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2	67	Potential.					nucleus	protein binding			skin(1)	1				GBM - Glioblastoma multiforme(48;0.0188)		CCACTTGCTTCGTCAGATACT	0.343													T	22361162	C	T	22361162	2	4	104	1	0	0	0	0	0	0	0	1	3172	871	31	1		1	CDR2	16	22361162	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	209656	22361162	67993591	5390	72004											
HS3ST2	9956	broad.mit.edu	37	chr16	22926592	22926592	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgctagctcagattcacttCgtcagtggcgagcgactcat	10	13	4	1	rs144169281		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:22926592C>T	uc002dli.2	+	2	885	c.813C>T	c.(811-813)TTC>TTT	p.F271F	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	271	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		AGATTCACTTCGTCAGTGGCG	0.582													T	22926592	C	T	22926592	2	4	104	1	0	0	0	0	0	0	0	1	7364	883	31	1		1	HS3ST2	16	22926592	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	565430	22926592	67428161	5391	72005											
USP31	57478	broad.mit.edu	37	chr16	23080168	23080168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggggcaggggatgaatgCcgtccactgcccctggaaga	16	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:23080168C>T	uc002dll.2	-	16	3258	c.3258G>A	c.(3256-3258)CGG>CGA	p.R1086R	USP31_uc002dlk.2_Silent_p.R358R|USP31_uc010vca.1_Silent_p.R389R|USP31_uc010bxm.2_Silent_p.R374R	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1086	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		GGGATGAATGCCGTCCACTGC	0.547													T	23080168	C	T	23080168	2	4	104	1	0	0	0	0	0	0	0	1	17059	726	26	2		2	USP31	16	23080168	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	153576	23080168	67274585	5392	72006											
USP31	57478	broad.mit.edu	37	chr16	23091492	23091492	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tttcatgcgcctgtctccttCctgttgcaagaagaaaaaca	7	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:23091492C>A	uc002dll.2	-	13	1951	c.1951G>T	c.(1951-1953)GAA>TAA	p.E651*	USP31_uc010bxm.2_5'UTR	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	651					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		CTGTCTCCTTCCTGTTGCAAG	0.478													A	23091492	C	A	23091492	4	1	104	1	0	0	0	0	0	1	0	0	17059	869	30	5	2123	5	USP31	16	23091492	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	11324	23091492	67263261	5393	72007											
SCNN1B	6338	broad.mit.edu	37	chr16	23391835	23391835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtttggggagatcatcatcGactttgtgtggatcaccatc	11	8	3	1	rs112069765		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:23391835G>A	uc002dln.2	+	13	1812	c.1636G>A	c.(1636-1638)GAC>AAC	p.D546N		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	546	Cytoplasmic (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GATCATCATCGACTTTGTGTG	0.617													A	23391835	G	A	23391835	3	1	104	1	0	0	0	0	1	0	0	0	13928	1058	37	1	1682	1	SCNN1B	16	23391835	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	300343	23391835	66962918	5394	72008											
UBFD1	56061	broad.mit.edu	37	chr16	23569435	23569435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccggcccagccccctgggGaccccgcagcccaggcctcg	12	23	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:23569435G>A	uc002dlv.2	+	2	392	c.190G>A	c.(190-192)GAC>AAC	p.D64N	EARS2_uc002dls.3_5'Flank|EARS2_uc002dlt.3_5'Flank|EARS2_uc002dlu.2_5'Flank	NM_019116	NP_061989	O14562	UBFD1_HUMAN	ubiquitin-binding protein homolog	64											0				GBM - Glioblastoma multiforme(48;0.0331)		GCCCCCTGGGGACCCCGCAGC	0.627													A	23569435	G	A	23569435	3	1	104	1	0	0	0	0	1	0	0	0	16881	1174	41	4	196	4	UBFD1	16	23569435	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	177600	23569435	66785318	5395	72009											
PLK1	5347	broad.mit.edu	37	chr16	23690463	23690463	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgccaagtgcttcgagatCtcggacgcggacaccaagga	12	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:23690463C>T	uc002dlz.1	+	1	263	c.210C>T	c.(208-210)ATC>ATT	p.I70I		NM_005030	NP_005021	P53350	PLK1_HUMAN	polo-like kinase 1	70	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			lung(1)|skin(1)	2				GBM - Glioblastoma multiforme(48;0.0156)		GCTTCGAGATCTCGGACGCGG	0.602													T	23690463	C	T	23690463	2	4	104	1	0	0	0	0	0	0	0	1	12094	903	32	4		4	PLK1	16	23690463	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	121028	23690463	66664290	5396	72010											
RBBP6	5930	broad.mit.edu	37	chr16	24552030	24552030	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctccacatctccctctgcgActtaaagaagcagattatgg	8	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:24552030A>C	uc002dmh.2	+	1	1123	c.83A>C	c.(82-84)GAC>GCC	p.D28A	RBBP6_uc010vcb.1_Intron|RBBP6_uc002dmg.2_Missense_Mutation_p.D28A|RBBP6_uc002dmi.2_Missense_Mutation_p.D28A|RBBP6_uc010bxr.2_Missense_Mutation_p.D28A	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	28	DWNN.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		TCCCTCTGCGACTTAAAGAAG	0.493													C	24552030	A	C	24552030	3	2	104	1	0	0	0	0	1	0	0	0	13103	275	10	5	85	5	RBBP6	16	24552030	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	861567	24552030	65802723	5397	72011											
RBBP6	5930	broad.mit.edu	37	chr16	24578677	24578677	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgggtatagtgtccctccTccagggtttcctccagctcc	10	15	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:24578677T>C	uc002dmh.2	+	15	2843	c.1803T>C	c.(1801-1803)CCT>CCC	p.P601P	RBBP6_uc010vcb.1_Silent_p.P468P|RBBP6_uc002dmi.2_Silent_p.P601P|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Silent_p.P468P	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	601					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		GTGTCCCTCCTCCAGGGTTTC	0.363													C	24578677	T	C	24578677	2	2	104	1	0	0	0	0	0	0	0	1	13103	1538	54	3		3	RBBP6	16	24578677	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	26647	24578677	65776076	5398	72012											
TNRC6A	27327	broad.mit.edu	37	chr16	24802647	24802647	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgaacttggtaaaactagttCtttcacttggggaaacaaca	8	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:24802647C>A	uc002dmm.2	+	6	2798	c.2684C>A	c.(2683-2685)TCT>TAT	p.S895Y	TNRC6A_uc010bxs.2_Missense_Mutation_p.S642Y|TNRC6A_uc010vcc.1_Missense_Mutation_p.S642Y|TNRC6A_uc002dmn.2_Missense_Mutation_p.S642Y|TNRC6A_uc002dmo.2_Missense_Mutation_p.S642Y	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	895	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		AAAACTAGTTCTTTCACTTGG	0.453													A	24802647	C	A	24802647	3	1	104	1	0	0	0	0	1	0	0	0	16337	913	32	5	2706	5	TNRC6A	16	24802647	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	223970	24802647	65552106	5399	72013											
TNRC6A	27327	broad.mit.edu	37	chr16	24803039	24803039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacatgtggaacaaaaacGtcccaaatggcaacagccgt	9	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:24803039G>A	uc002dmm.2	+	6	3190	c.3076G>A	c.(3076-3078)GTC>ATC	p.V1026I	TNRC6A_uc010bxs.2_Missense_Mutation_p.V773I|TNRC6A_uc010vcc.1_Missense_Mutation_p.V773I|TNRC6A_uc002dmn.2_Missense_Mutation_p.V773I|TNRC6A_uc002dmo.2_Missense_Mutation_p.V773I	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1026	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		GAACAAAAACGTCCCAAATGG	0.463													A	24803039	G	A	24803039	3	1	104	1	0	0	0	0	1	0	0	0	16337	1145	40	1	3098	1	TNRC6A	16	24803039	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	392	24803039	65551714	5400	72014											
IL21R	50615	broad.mit.edu	37	chr16	27460524	27460524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttcaccagccccggggacGaaggacccccccggagctac	11	18	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:27460524G>A	uc002doq.1	+	9	1770	c.1537G>A	c.(1537-1539)GAA>AAA	p.E513K	IL21R_uc002dor.1_Missense_Mutation_p.E513K|IL21R_uc002dos.1_Missense_Mutation_p.E513K|uc002dot.2_RNA	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	513	Cytoplasmic (Potential).				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4						CCCCGGGGACGAAGGACCCCC	0.637			T	BCL6	NHL								A	27460524	G	A	27460524	3	1	104	1	0	0	0	0	1	0	0	0	7671	1059	37	1	1567	1	IL21R	16	27460524	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2657485	27460524	62894229	5401	72015											
KIAA0556	23247	broad.mit.edu	37	chr16	27772749	27772749	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggccttcagctgaattTcactgcctcctggggagact	11	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:27772749T>C	uc002dow.2	+	19	3671	c.3647T>C	c.(3646-3648)TTC>TCC	p.F1216S		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	1216										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						CAGCTGAATTTCACTGCCTCC	0.567													C	27772749	T	C	27772749	3	2	104	1	0	0	0	0	1	0	0	0	8183	1783	62	3	3721	3	KIAA0556	16	27772749	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	312225	27772749	62582004	5402	72016											
GSG1L	146395	broad.mit.edu	37	chr16	27818854	27818854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaagtgaaagtcctcctcGctcccgtccctcttctccat	5	17	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:27818854G>A	uc002doz.2	-	6	937	c.852C>T	c.(850-852)AGC>AGT	p.S284S	GSG1L_uc010bya.1_Silent_p.S233S|GSG1L_uc010bxz.1_Silent_p.S147S|GSG1L_uc002doy.2_Silent_p.S129S	NM_001109763	NP_001103233	Q6UXU4	GSG1L_HUMAN	GSG1-like isoform 1	284						integral to membrane				ovary(1)	1						AGTCCTCCTCGCTCCCGTCCC	0.498													A	27818854	G	A	27818854	2	1	104	1	0	0	0	0	0	0	0	1	6821	1078	38	1		1	GSG1L	16	27818854	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	46105	27818854	62535899	5403	72017											
CD19	930	broad.mit.edu	37	chr16	28946860	28946860	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtgttcccttgtgggcattCttcatcttcaaagaggtgag	11	8	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:28946860C>A	uc002drs.2	+	5	993	c.931C>A	c.(931-933)CTT>ATT	p.L311I	uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.L311I	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen precursor	311	Helical; (Potential).				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3						TGTGGGCATTCTTCATCTTCA	0.532													A	28946860	C	A	28946860	3	1	104	1	0	0	0	0	1	0	0	0	2973	913	32	5	949	5	CD19	16	28946860	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1128006	28946860	61407893	5404	72018											
CD19	930	broad.mit.edu	37	chr16	28947495	28947495	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctggtcctgaggaggaaaaGaaagcgaatgactgacccca	12	10	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:28947495G>T	uc002drs.2	+	6	1030	c.968G>T	c.(967-969)AGA>ATA	p.R323I	uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.R323I	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen precursor	323	Cytoplasmic (Potential).				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3						AGGAGGAAAAGAAAGCGAATG	0.522													T	28947495	G	T	28947495	3	4	104	1	0	0	0	0	1	0	0	0	2973	942	33	5	990	5	CD19	16	28947495	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	635	28947495	61407258	5405	72019											
C16orf54	283897	broad.mit.edu	37	chr16	29755699	29755699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggatccgggctccctgGccgctgcctcctggcctggg	14	17	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:29755699G>A	uc002dtp.2	-	2	683	c.574C>T	c.(574-576)CCA>TCA	p.P192S	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002dtq.1_5'Flank	NM_175900	NP_787096	Q6UWD8	CP054_HUMAN	hypothetical protein LOC283897	192						integral to membrane					0						GGGCTCCCTGGCCGCTGCCTC	0.692													A	29755699	G	A	29755699	3	1	104	1	0	0	0	0	1	0	0	0	1819	1203	42	2	104	2	C16orf54	16	29755699	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	808204	29755699	60599054	5406	72020											
PRRT2	112476	broad.mit.edu	37	chr16	29825012	29825012	+	Frame_Shift_Del	DEL	G	G	-													aaaaatcccccccagccaatGgggcccccccccgagtgctg							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:29825012delG	uc002due.3	+	2	938	c.637delG	c.(637-639)GGGfs	p.G213fs	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Frame_Shift_Del_p.G213fs|PRRT2_uc002duf.1_Frame_Shift_Del_p.G213fs|C16orf53_uc002dug.3_5'Flank	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	213	Extracellular (Potential).|Pro-rich.				response to biotic stimulus	integral to membrane					0						CCCAGCCAATGGGGCCCCCCC	0.642													-	29825012	G	-	29825012	7	5	104	1	0	1	0	1	0	0	0	0	12610	1348	47	0	639	0	PRRT2	16	29825012	Frame_Shift_Del	DEL	G	TCGA-BR-8680-01A-11D-2394-08	69313	29825012	60529741	5407	72021											
TAOK2	9344	broad.mit.edu	37	chr16	29994826	29994826	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctatctccctctagggCtctgacaacctatatgatga	6	13	4	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:29994826C>T	uc002dva.1	+	13	2046	c.1263C>T	c.(1261-1263)GGC>GGT	p.G421G	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Silent_p.G421G|TAOK2_uc002dvc.1_Silent_p.G421G|TAOK2_uc010bzm.1_Silent_p.G428G|TAOK2_uc002dvd.1_Silent_p.G248G	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	421					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						CCCTCTAGGGCTCTGACAACC	0.592													T	29994826	C	T	29994826	2	4	104	1	0	0	0	0	0	0	0	1	15545	784	28	2		2	TAOK2	16	29994826	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	169814	29994826	60359927	5408	72022											
ITGAL	3683	broad.mit.edu	37	chr16	30522424	30522424	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcagccactaccatcatccCcatcctgtaccccatcaaca	2	20	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:30522424C>A	uc002dyi.3	+	24	2929	c.2753C>A	c.(2752-2754)CCC>CAC	p.P918H	ITGAL_uc002dyj.3_Missense_Mutation_p.P834H|ITGAL_uc010vev.1_Missense_Mutation_p.P152H	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	918	Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	ACCATCATCCCCATCCTGTAC	0.582													A	30522424	C	A	30522424	3	1	104	1	0	0	0	0	1	0	0	0	7886	623	22	5	2847	5	ITGAL	16	30522424	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	527598	30522424	59832329	5409	72023											
SRCAP	10847	broad.mit.edu	37	chr16	30731499	30731499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagcggatagacatgggtcGatttgaccttattggcctgg	14	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:30731499G>A	uc002dze.1	+	19	3219	c.2834G>A	c.(2833-2835)CGA>CAA	p.R945Q	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R802Q|SRCAP_uc010bzz.1_Missense_Mutation_p.R515Q	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	945					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			GACATGGGTCGATTTGACCTT	0.363													A	30731499	G	A	30731499	3	1	104	1	0	0	0	0	1	0	0	0	15134	1058	37	1	2900	1	SRCAP	16	30731499	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	209075	30731499	59623254	5410	72024											
ITGAM	3684	broad.mit.edu	37	chr16	31277142	31277142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccccgcagtccccgtggaGgccgtgaacatgtccctggg	14	15	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:31277142G>A	uc002ebq.2	+	4	347	c.249G>A	c.(247-249)GAG>GAA	p.E83E	ITGAM_uc002ebr.2_Silent_p.E83E	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	83	FG-GAP 2.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						TCCCCGTGGAGGCCGTGAACA	0.657													A	31277142	G	A	31277142	2	1	104	1	0	0	0	0	0	0	0	1	7887	991	35	4		4	ITGAM	16	31277142	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	545643	31277142	59077611	5411	72025											
ITGAM	3684	broad.mit.edu	37	chr16	31282341	31282341	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtagcatcatcccacatgActttcggcggatgaaggagt	12	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:31282341A>C	uc002ebq.2	+	6	592	c.494A>C	c.(493-495)GAC>GCC	p.D165A	ITGAM_uc002ebr.2_Missense_Mutation_p.D165A	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	165	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						ATCCCACATGACTTTCGGCGG	0.478													C	31282341	A	C	31282341	3	2	104	1	0	0	0	0	1	0	0	0	7887	275	10	5	516	5	ITGAM	16	31282341	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	5199	31282341	59072412	5412	72026											
ITGAX	3687	broad.mit.edu	37	chr16	31382767	31382767	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcagaccctggtacagTccaacatctgcctttacatt	7	13	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:31382767T>C	uc002ebu.1	+	16	2021	c.1954T>C	c.(1954-1956)TCC>CCC	p.S652P	ITGAX_uc002ebt.2_Missense_Mutation_p.S652P	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	652	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CCTGGTACAGTCCAACATCTG	0.587													C	31382767	T	C	31382767	3	2	104	1	0	0	0	0	1	0	0	0	7889	1667	58	3	2016	3	ITGAX	16	31382767	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	100426	31382767	58971986	5413	72027											
ITGAX	3687	broad.mit.edu	37	chr16	31391336	31391336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctcctcagagaaaatcGcacccccagcatctgacttc	8	15	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:31391336G>A	uc002ebu.1	+	26	3077	c.3010G>A	c.(3010-3012)GCA>ACA	p.A1004T	ITGAX_uc002ebt.2_Missense_Mutation_p.A1004T	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	1004	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						AGAGAAAATCGCACCCCCAGC	0.577													A	31391336	G	A	31391336	3	1	104	1	0	0	0	0	1	0	0	0	7889	1087	38	1	3112	1	ITGAX	16	31391336	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	8569	31391336	58963417	5414	72028											
ITGAD	3681	broad.mit.edu	37	chr16	31405651	31405651	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcagagcgtggtgcagttCggtggatctcggtaggcccc	18	10	1	1	rs140142659	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:31405651C>T	uc002ebv.1	+	2	175	c.126C>T	c.(124-126)TTC>TTT	p.F42F	ITGAD_uc010vfl.1_Silent_p.F42F|ITGAD_uc010cap.1_Silent_p.F42F	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	42	Extracellular (Potential).|FG-GAP 1.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						TGGTGCAGTTCGGTGGATCTC	0.587													T	31405651	C	T	31405651	2	4	104	1	0	0	0	0	0	0	0	1	7884	883	31	1		1	ITGAD	16	31405651	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	14315	31405651	58949102	5415	72029											
C16orf58	64755	broad.mit.edu	37	chr16	31504366	31504366	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accagctgctgcagctcaaaGacactgtgggggagaggaca	14	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:31504366G>T	uc002eci.1	-	10	1032	c.1020C>A	c.(1018-1020)GTC>GTA	p.V340V	C16orf58_uc002ech.1_Silent_p.V78V	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN	hypothetical protein LOC64755	340						integral to membrane				ovary(1)|breast(1)	2						GCAGCTCAAAGACACTGTGGG	0.577													T	31504366	G	T	31504366	2	4	104	1	0	0	0	0	0	0	0	1	1822	929	33	5		5	C16orf58	16	31504366	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	98715	31504366	58850387	5416	72030											
AHSP	51327	broad.mit.edu	37	chr16	31539893	31539894	+	Missense_Mutation	DNP	GA	GA	TG													caggggagccccaagagcgaGacaaggctctgcaggagctt							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:31539893_31539894GA>TG	uc002ecj.2	+	3	275_276	c.190_191GA>TG	c.(190-192)GAC>TGC	p.D64C		NM_016633	NP_057717	Q9NZD4	AHSP_HUMAN	erythroid associated factor	64					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding				0						CCAAGAGCGAGACAAGGCTCTG	0.545													TG	31539894	GA	TG	31539893	3	4	104	1	0	0	0	0	1	0	0	0	421	942	33	5	196	5	AHSP	16	31539893	Missense_Mutation	DNP	GA	TCGA-BR-8680-01A-11D-2394-08	35527	31539893	58814860	5417	72031											
ZNF267	10308	broad.mit.edu	37	chr16	31927273	31927273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaccttattcgacatcatcGaattcatactggagaaaaac	5	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:31927273G>A	uc002ecs.3	+	4	1912	c.1703G>A	c.(1702-1704)CGA>CAA	p.R568Q		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	568	C2H2-type 9.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						CGACATCATCGAATTCATACT	0.388													A	31927273	G	A	31927273	3	1	104	1	0	0	0	0	1	0	0	0	17803	1058	37	1	1717	1	ZNF267	16	31927273	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	387380	31927273	58427480	5418	72032											
SHCBP1	79801	broad.mit.edu	37	chr16	46633805	46633805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagattttaatatcagcaCcagtgcagtccacaaaagtg	8	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:46633805C>T	uc002eec.3	-	9	1323	c.1283G>A	c.(1282-1284)GGT>GAT	p.G428D		NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	428	PbH1 1.									ovary(1)|breast(1)	2		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				AATATCAGCACCAGTGCAGTC	0.393													T	46633805	C	T	46633805	3	4	104	1	0	0	0	0	1	0	0	0	14274	507	18	4	755	4	SHCBP1	16	46633805	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	14706532	46633805	43720948	5419	72033											
MYLK3	91807	broad.mit.edu	37	chr16	46766221	46766221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgctcaggctcagggtttCccgcccctgggcttttgccc	11	17	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:46766221C>T	uc002eei.3	-	4	1477	c.1361G>A	c.(1360-1362)GGA>GAA	p.G454E	MYLK3_uc010vge.1_Missense_Mutation_p.G113E|MYLK3_uc002eej.1_Missense_Mutation_p.G113E	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	454					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CTCAGGGTTTCCCGCCCCTGG	0.672													T	46766221	C	T	46766221	3	4	104	1	0	0	0	0	1	0	0	0	10058	855	30	4	1138	4	MYLK3	16	46766221	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	132416	46766221	43588532	5420	72034											
NETO2	81831	broad.mit.edu	37	chr16	47162324	47162324	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatgaatctccctgttgaTctaattaatggagggctttt	8	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:47162324T>C	uc002eer.1	-	4	778	c.393A>G	c.(391-393)AGA>AGG	p.R131R	NETO2_uc010vgf.1_5'UTR|NETO2_uc002ees.1_Silent_p.R131R	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	neuropilin- and tolloid-like protein 2	131	Extracellular (Potential).|CUB 1.					integral to membrane	receptor activity				0		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TCCCTGTTGATCTAATTAATG	0.398										HNSCC(25;0.065)			C	47162324	T	C	47162324	2	2	104	1	0	0	0	0	0	0	0	1	10340	1432	50	3		3	NETO2	16	47162324	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	396103	47162324	43192429	5421	72035											
NETO2	81831	broad.mit.edu	37	chr16	47163219	47163219	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgacctccattgctggttcGaacccaaatgccacactggg	9	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:47163219G>A	uc002eer.1	-	3	533	c.148C>T	c.(148-150)CGA>TGA	p.R50*	NETO2_uc010vgf.1_5'Flank|NETO2_uc002ees.1_Nonsense_Mutation_p.R50*	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	neuropilin- and tolloid-like protein 2	50	Extracellular (Potential).|CUB 1.					integral to membrane	receptor activity				0		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTGCTGGTTCGAACCCAAATG	0.398										HNSCC(25;0.065)			A	47163219	G	A	47163219	4	1	104	1	0	0	0	0	0	1	0	0	10340	1066	37	1	1457	1	NETO2	16	47163219	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	895	47163219	43191534	5422	72036											
PHKB	5257	broad.mit.edu	37	chr16	47723014	47723014	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cggagacaagccagccttggActtgtatcagctgtcaccta	10	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:47723014A>T	uc002eev.3	+	27	2745	c.2693A>T	c.(2692-2694)GAC>GTC	p.D898V	PHKB_uc002eeu.3_Missense_Mutation_p.D891V|PHKB_uc002eew.3_Missense_Mutation_p.D139V	NM_000293	NP_000284	Q93100	KPBB_HUMAN	phosphorylase kinase, beta isoform a	898					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			ovary(1)|large_intestine(1)|breast(1)	3		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CCAGCCTTGGACTTGTATCAG	0.463													T	47723014	A	T	47723014	3	4	104	1	0	0	0	0	1	0	0	0	11845	275	10	5	2953	5	PHKB	16	47723014	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	559795	47723014	42631739	5423	72037											
ABCC12	94160	broad.mit.edu	37	chr16	48122497	48122497	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccgactgtctgcccacttTgtatgttcaagttcaggctg	9	12	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:48122497T>G	uc002efc.1	-	24	3780	c.3434A>C	c.(3433-3435)CAA>CCA	p.Q1145P	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	1145	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				CTGCCCACTTTGTATGTTCAA	0.488													G	48122497	T	G	48122497	3	3	104	1	0	0	0	0	1	0	0	0	52	1812	63	5	669	5	ABCC12	16	48122497	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	399483	48122497	42232256	5424	72038											
ABCC12	94160	broad.mit.edu	37	chr16	48167666	48167666	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcacgatggctatggtggAcacgatgggggccagggcag	18	9	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:48167666A>G	uc002efc.1	-	7	1406	c.1060T>C	c.(1060-1062)TCC>CCC	p.S354P	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.S354P|ABCC12_uc010vgj.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	354	ABC transmembrane type-1 1.|Helical; (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				GCTATGGTGGACACGATGGGG	0.498													G	48167666	A	G	48167666	3	3	104	1	0	0	0	0	1	0	0	0	52	275	10	3	3111	3	ABCC12	16	48167666	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	45169	48167666	42187087	5425	72039											
ABCC11	85320	broad.mit.edu	37	chr16	48226615	48226615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccatggttccattgctctctCggctgctattggtcttcaag	9	12	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:48226615C>T	uc002eff.1	-	19	2872	c.2522G>A	c.(2521-2523)CGA>CAA	p.R841Q	ABCC11_uc002efg.1_Missense_Mutation_p.R841Q|ABCC11_uc002efh.1_Missense_Mutation_p.R841Q|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	841	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				ATTGCTCTCTCGGCTGCTATT	0.562									Cerumen_Type				T	48226615	C	T	48226615	3	4	104	1	0	0	0	0	1	0	0	0	51	884	31	1	1670	1	ABCC11	16	48226615	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	58949	48226615	42128138	5426	72040											
ABCC11	85320	broad.mit.edu	37	chr16	48249223	48249223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacctcagatgtgtgatgCtgagccttcacagccattct	9	12	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:48249223C>T	uc002eff.1	-	7	1334	c.984G>A	c.(982-984)CAG>CAA	p.Q328Q	ABCC11_uc002efg.1_Silent_p.Q328Q|ABCC11_uc002efh.1_Silent_p.Q328Q|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	328	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				ATGTGTGATGCTGAGCCTTCA	0.473									Cerumen_Type				T	48249223	C	T	48249223	2	4	104	1	0	0	0	0	0	0	0	1	51	796	28	2		2	ABCC11	16	48249223	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	22608	48249223	42105530	5427	72041											
ABCC11	85320	broad.mit.edu	37	chr16	48265757	48265757	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aataagtcctgaaaccatgtCatcgcctatgtcgatgccac	7	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:48265757C>A	uc002eff.1	-	1	426	c.76G>T	c.(76-78)GAC>TAC	p.D26Y	ABCC11_uc002efg.1_Missense_Mutation_p.D26Y|ABCC11_uc002efh.1_Missense_Mutation_p.D26Y|ABCC11_uc010vgl.1_Missense_Mutation_p.D26Y	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	26	Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GAAACCATGTCATCGCCTATG	0.448									Cerumen_Type				A	48265757	C	A	48265757	3	1	104	1	0	0	0	0	1	0	0	0	51	826	29	5	4188	5	ABCC11	16	48265757	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	16534	48265757	42088996	5428	72042											
LONP2	83752	broad.mit.edu	37	chr16	48381506	48381506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgttcgtggaggcgagtcGaatggatggcgagggccagt	18	7	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:48381506G>A	uc002efi.1	+	13	2116	c.2027G>A	c.(2026-2028)CGA>CAA	p.R676Q	LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.R632Q	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	676					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0						GAGGCGAGTCGAATGGATGGC	0.557													A	48381506	G	A	48381506	3	1	104	1	0	0	0	0	1	0	0	0	8893	1058	37	1	2077	1	LONP2	16	48381506	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	115749	48381506	41973247	5429	72043											
ZNF423	23090	broad.mit.edu	37	chr16	49671572	49671572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgggagacgcggatgtgCtcctgcaggctattgatgtc	15	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:49671572C>T	uc002efs.2	-	5	1789	c.1491G>A	c.(1489-1491)GAG>GAA	p.E497E	ZNF423_uc010vgn.1_Silent_p.E380E	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	497	C2H2-type 11.			E->A: Abolishes the ability to bind promoter of BMP target genes; when associated with A-420; A-426; A-452; A- 458; A-491; A-528; A-534; A-574 and A- 581.	cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				CGCGGATGTGCTCCTGCAGGC	0.547													T	49671572	C	T	49671572	2	4	104	1	0	0	0	0	0	0	0	1	17895	796	28	2		2	ZNF423	16	49671572	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1290066	49671572	40683181	5430	72044											
ZNF423	23090	broad.mit.edu	37	chr16	49671995	49671995	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccagtacagggtcgggActgacactgtggttgctgga	15	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:49671995A>C	uc002efs.2	-	5	1366	c.1068T>G	c.(1066-1068)AGT>AGG	p.S356R	ZNF423_uc010vgn.1_Missense_Mutation_p.S239R	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	356					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				CAGGGTCGGGACTGACACTGT	0.647													C	49671995	A	C	49671995	3	2	104	1	0	0	0	0	1	0	0	0	17895	272	10	5	2806	5	ZNF423	16	49671995	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	423	49671995	40682758	5431	72045											
ZNF423	23090	broad.mit.edu	37	chr16	49764857	49764857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacggctggttttctgatcGcactctggctctccttctag	10	13	4	1	rs139517505		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:49764857G>A	uc002efs.2	-	4	400	c.102C>T	c.(100-102)TGC>TGT	p.C34C		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	34					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				TTTTCTGATCGCACTCTGGCT	0.493													A	49764857	G	A	49764857	2	1	104	1	0	0	0	0	0	0	0	1	17895	1079	38	1		1	ZNF423	16	49764857	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	92862	49764857	40589896	5432	72046											
HEATR3	55027	broad.mit.edu	37	chr16	50104153	50104153	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaagatcagaacagaaattCtattgagaacatagccaatg	7	6	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:50104153C>T	uc002efw.2	+	4	626	c.464C>T	c.(463-465)TCT>TTT	p.S155F	HEATR3_uc002efx.2_Missense_Mutation_p.S69F	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	155							binding			ovary(1)|skin(1)	2						AACAGAAATTCTATTGAGAAC	0.428													T	50104153	C	T	50104153	3	4	104	1	0	0	0	0	1	0	0	0	7029	913	32	4	478	4	HEATR3	16	50104153	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	339296	50104153	40250600	5433	72047											
HEATR3	55027	broad.mit.edu	37	chr16	50112911	50112911	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagtcagaaggaaaactttCgtttcagatttacttccggt	9	7	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:50112911C>T	uc002efw.2	+	7	1185	c.1023C>T	c.(1021-1023)TTC>TTT	p.F341F	HEATR3_uc002efx.2_Silent_p.F255F	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	341							binding			ovary(1)|skin(1)	2						GGAAAACTTTCGTTTCAGATT	0.353													T	50112911	C	T	50112911	2	4	104	1	0	0	0	0	0	0	0	1	7029	883	31	1		1	HEATR3	16	50112911	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	8758	50112911	40241842	5434	72048											
BRD7	29117	broad.mit.edu	37	chr16	50384079	50384079	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaaagcacttggatcttttCtgtaaagatatgcaaaagac	8	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:50384079C>A	uc002egf.1	-	6	514	c.447_splice	c.e6-1	p.R149_splice	BRD7_uc002ege.1_Splice_Site_p.R149_splice	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	bromodomain containing 7						cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding				0		all_cancers(37;0.0127)				TGGATCTTTTCTGTAAAGATA	0.348													A	50384079	C	A	50384079	5	1	104	1	0	0	0	0	0	0	1	0	1505	927	32	5	1564	5	BRD7	16	50384079	Splice_Site	SNP	C	TCGA-BR-8680-01A-11D-2394-08	271168	50384079	39970674	5435	72049											
SNX20	124460	broad.mit.edu	37	chr16	50709814	50709814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcatgctggagttggagCtcaggccactgtgtgtgtct	15	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:50709814C>T	uc002egk.2	-	3	322	c.149G>A	c.(148-150)AGC>AAC	p.S50N	SNX20_uc010vgp.1_Missense_Mutation_p.S50N|SNX20_uc002egi.3_Missense_Mutation_p.S50N	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	sorting nexin 20 isoform 1	50					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			ovary(1)	1						GGAGTTGGAGCTCAGGCCACT	0.562													T	50709814	C	T	50709814	3	4	104	1	0	0	0	0	1	0	0	0	14892	797	28	2	952	2	SNX20	16	50709814	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	325735	50709814	39644939	5436	72050											
NOD2	64127	broad.mit.edu	37	chr16	50759457	50759457	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctctcgcagaaggactgaaGaaaaattcaagtttgaaaat	8	6	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:50759457G>T	uc002egm.1	+	10	3045	c.2940G>T	c.(2938-2940)AAG>AAT	p.K980N	NOD2_uc010vgq.1_Missense_Mutation_p.K25N	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	980					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				AAGGACTGAAGAAAAATTCAA	0.423													T	50759457	G	T	50759457	3	4	104	1	0	0	0	0	1	0	0	0	10517	933	33	5	2978	5	NOD2	16	50759457	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	49643	50759457	39595296	5437	72051											
CYLD	1540	broad.mit.edu	37	chr16	50784016	50784016	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcctgtgaaagtacagctgaGatctggggaagaaaaatttc	11	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:50784016G>T	uc002egp.1	+	4	822	c.407G>T	c.(406-408)AGA>ATA	p.R136I	CYLD_uc002egn.1_Missense_Mutation_p.R136I|CYLD_uc002ego.2_Missense_Mutation_p.R136I|CYLD_uc010cbs.1_Missense_Mutation_p.R136I|CYLD_uc002egq.1_Missense_Mutation_p.R136I|CYLD_uc002egr.1_Missense_Mutation_p.R136I|CYLD_uc002egs.1_Missense_Mutation_p.R136I	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	136	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				GTACAGCTGAGATCTGGGGAA	0.448			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial				T	50784016	G	T	50784016	3	4	104	1	0	0	0	0	1	0	0	0	4143	942	33	5	409	5	CYLD	16	50784016	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	24559	50784016	39570737	5438	72052											
SALL1	6299	broad.mit.edu	37	chr16	51173150	51173150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtttttaaatttaccccGgtctctaaaagggaagagga	10	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:51173150G>A	uc010vgs.1	-	2	3014	c.2983C>T	c.(2983-2985)CGG>TGG	p.R995W	SALL1_uc010vgr.1_Missense_Mutation_p.R898W|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	995					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AATTTACCCCGGTCTCTAAAA	0.433													A	51173150	G	A	51173150	3	1	104	1	0	0	0	0	1	0	0	0	13810	1115	39	1	999	1	SALL1	16	51173150	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	389134	51173150	39181603	5439	72053											
SALL1	6299	broad.mit.edu	37	chr16	51175943	51175943	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taattgatttttagtacagtTcttcttgtggagcagaagat	9	4	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:51175943T>C	uc010vgs.1	-	2	221	c.190A>G	c.(190-192)AAC>GAC	p.N64D	SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	64					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTAGTACAGTTCTTCTTGTGG	0.488													C	51175943	T	C	51175943	3	2	104	1	0	0	0	0	1	0	0	0	13810	1783	62	3	3792	3	SALL1	16	51175943	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2793	51175943	39178810	5440	72054											
CHD9	80205	broad.mit.edu	37	chr16	53190731	53190731	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcacacttccacaagTgtagcagtcatcaagaagga	8	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:53190731T>C	uc002ehb.2	+	1	894	c.730T>C	c.(730-732)TGT>CGT	p.C244R	CHD9_uc002egy.2_Missense_Mutation_p.C244R|CHD9_uc002egz.1_Missense_Mutation_p.C244R|CHD9_uc002eha.1_Missense_Mutation_p.C244R|CHD9_uc002ehc.2_Missense_Mutation_p.C244R	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	244	Ser-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				CTTCCACAAGTGTAGCAGTCA	0.373													C	53190731	T	C	53190731	3	2	104	1	0	0	0	0	1	0	0	0	3332	1696	59	3	732	3	CHD9	16	53190731	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2014788	53190731	37164022	5441	72055											
CHD9	80205	broad.mit.edu	37	chr16	53302013	53302013	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actccaactgaagatggacaGacacgagagctacagaatca	9	10	1	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:53302013G>A	uc002ehb.2	+	21	4856	c.4692G>A	c.(4690-4692)CAG>CAA	p.Q1564Q	CHD9_uc002egy.2_Silent_p.Q1564Q|CHD9_uc002ehc.2_Silent_p.Q1564Q|CHD9_uc002ehf.2_Silent_p.Q678Q|CHD9_uc010cbw.2_5'UTR|CHD9_uc002ehd.2_Silent_p.Q1090Q	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1564					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				AAGATGGACAGACACGAGAGC	0.338													A	53302013	G	A	53302013	2	1	104	1	0	0	0	0	0	0	0	1	3332	933	33	4		4	CHD9	16	53302013	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	111282	53302013	37052740	5442	72056											
RBL2	5934	broad.mit.edu	37	chr16	53504328	53504328	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatggagggataacattctTccctgtccaagtcaatgttg	9	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:53504328T>G	uc002ehi.3	+	16	2397	c.2279T>G	c.(2278-2280)TTC>TGC	p.F760C	RBL2_uc002ehj.2_Missense_Mutation_p.F470C|RBL2_uc010vgw.1_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	760	Spacer.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						ATAACATTCTTCCCTGTCCAA	0.493													G	53504328	T	G	53504328	3	3	104	1	0	0	0	0	1	0	0	0	13110	1783	62	5	2341	5	RBL2	16	53504328	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	202315	53504328	36850425	5443	72057											
AKTIP	64400	broad.mit.edu	37	chr16	53529195	53529195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatgcagagcgataagatgGctgcacatagacgcctggta	12	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:53529195G>A	uc002ehk.2	-	4	503	c.292C>T	c.(292-294)CCA>TCA	p.P98S	AKTIP_uc002ehl.2_Missense_Mutation_p.P98S|AKTIP_uc002ehm.2_Missense_Mutation_p.P98S|AKTIP_uc010vgx.1_Missense_Mutation_p.P98S	NM_001012398	NP_001012398	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	98					apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding				0		all_cancers(37;0.14)				CGATAAGATGGCTGCACATAG	0.383													A	53529195	G	A	53529195	3	1	104	1	0	0	0	0	1	0	0	0	482	1203	42	2	614	2	AKTIP	16	53529195	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	24867	53529195	36825558	5444	72058											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53686692	53686692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagttcaaaatcatagaaaGcataggtacagaaagtgaca	9	5	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:53686692G>A	uc002ehp.2	-	15	1971	c.1907C>T	c.(1906-1908)GCT>GTT	p.A636V	RPGRIP1L_uc002eho.3_Missense_Mutation_p.A636V|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.A636V|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.A636V|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.A636V	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	636	C2 1.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				ATCATAGAAAGCATAGGTACA	0.368													A	53686692	G	A	53686692	3	1	104	1	0	0	0	0	1	0	0	0	13550	971	34	2	2092	2	RPGRIP1L	16	53686692	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	157497	53686692	36668061	5445	72059											
IRX6	79190	broad.mit.edu	37	chr16	55363164	55363164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactaccgctgaactgtgCgccgtgcccgcggaggagcg	17	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:55363164C>T	uc002ehy.2	+	5	1807	c.1274C>T	c.(1273-1275)GCG>GTG	p.A425V	IRX6_uc002ehx.2_Missense_Mutation_p.A425V	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	425						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						CTGAACTGTGCGCCGTGCCCG	0.617													T	55363164	C	T	55363164	3	4	104	1	0	0	0	0	1	0	0	0	7848	768	27	1	1292	1	IRX6	16	55363164	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1676472	55363164	34991589	5446	72060											
LPCAT2	54947	broad.mit.edu	37	chr16	55562474	55562474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttaccttctatggtatctcGaaatgagaatgcacaagtcc	8	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:55562474G>A	uc002eie.3	+	3	678	c.497G>A	c.(496-498)CGA>CAA	p.R166Q		NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	166	Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0						ATGGTATCTCGAAATGAGAAT	0.378													A	55562474	G	A	55562474	3	1	104	1	0	0	0	0	1	0	0	0	8911	1058	37	1	507	1	LPCAT2	16	55562474	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	199310	55562474	34792279	5447	72061											
SLC6A2	6530	broad.mit.edu	37	chr16	55731866	55731866	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacttccaggtcctgaagCgacaccggaaactcttcaca	8	13	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:55731866C>T	uc002eif.2	+	10	1429	c.1318C>T	c.(1318-1320)CGA>TGA	p.R440*	SLC6A2_uc010ccd.2_Nonsense_Mutation_p.R440*|SLC6A2_uc002eig.2_Nonsense_Mutation_p.R440*|SLC6A2_uc002eih.2_Nonsense_Mutation_p.R440*|SLC6A2_uc002eii.2_Nonsense_Mutation_p.R335*|SLC6A2_uc002eij.2_Nonsense_Mutation_p.R154*	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	440					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GGTCCTGAAGCGACACCGGAA	0.582													T	55731866	C	T	55731866	4	4	104	1	0	0	0	0	0	1	0	0	14683	760	27	1	1443	1	SLC6A2	16	55731866	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	169392	55731866	34622887	5448	72062											
CES1	1066	broad.mit.edu	37	chr16	55844493	55844493	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acatctgctatcaagtccagGaacaggtctttctttttgac	7	10	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:55844493G>T	uc002eim.2	-	11	1359	c.1251C>A	c.(1249-1251)TTC>TTA	p.F417L	CES1_uc010ccf.2_Missense_Mutation_p.F92L|CES1_uc002eil.2_Missense_Mutation_p.F418L|CES1_uc002ein.2_Missense_Mutation_p.F416L	NM_001025194	NP_001020365	P23141	EST1_HUMAN	carboxylesterase 1 isoform b precursor	417				F -> I (in Ref. 19; AAA83932).	response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	TCAAGTCCAGGAACAGGTCTT	0.473													T	55844493	G	T	55844493	3	4	104	1	0	0	0	0	1	0	0	0	3269	1165	41	5	468	5	CES1	16	55844493	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	112627	55844493	34510260	5449	72063											
CES1	1066	broad.mit.edu	37	chr16	55855305	55855305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagacactttctcctcccGctgactctccaaagatggtc	7	15	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:55855305G>A	uc002eim.2	-	5	773	c.665C>T	c.(664-666)GCG>GTG	p.A222V	CES1_uc002eil.2_Missense_Mutation_p.A223V|CES1_uc002ein.2_Missense_Mutation_p.A222V	NM_001025194	NP_001020365	P23141	EST1_HUMAN	carboxylesterase 1 isoform b precursor	222					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	TTCTCCTCCCGCTGACTCTCC	0.567													A	55855305	G	A	55855305	3	1	104	1	0	0	0	0	1	0	0	0	3269	1087	38	1	1078	1	CES1	16	55855305	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	10812	55855305	34499448	5450	72064											
CES7	221223	broad.mit.edu	37	chr16	55886932	55886932	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaggtgcaaatactgaggCgggatgtgctgtaaaaatat	12	5	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:55886932C>T	uc002eip.2	-	10	1283	c.1134G>A	c.(1132-1134)CCG>CCA	p.P378P	CES7_uc002eio.2_Silent_p.P378P|CES7_uc002eiq.2_Silent_p.P139P|CES7_uc002eir.2_Silent_p.P272P	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	378						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		AATACTGAGGCGGGATGTGCT	0.383													T	55886932	C	T	55886932	2	4	104	1	0	0	0	0	0	0	0	1	3272	755	27	1		1	CES7	16	55886932	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	31627	55886932	34467821	5451	72065											
CES7	221223	broad.mit.edu	37	chr16	55903558	55903558	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attcctagccggtactggacGaccacaaccagcacgtcctc	8	16	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:55903558G>A	uc002eip.2	-	4	665	c.516C>T	c.(514-516)GTC>GTT	p.V172V	CES7_uc002eio.2_Silent_p.V172V|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Silent_p.V66V	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	172						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		GGTACTGGACGACCACAACCA	0.547													A	55903558	G	A	55903558	2	1	104	1	0	0	0	0	0	0	0	1	3272	1045	37	1		1	CES7	16	55903558	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	16626	55903558	34451195	5452	72066											
BBS2	583	broad.mit.edu	37	chr16	56534811	56534811	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtgcagatccacagggAcatctttgggaggcacaata	11	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:56534811A>G	uc002ejd.2	-	11	1586	c.1352T>C	c.(1351-1353)GTC>GCC	p.V451A	BBS2_uc010ccg.2_3'UTR	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2 protein	451					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			ovary(1)	1						ATCCACAGGGACATCTTTGGG	0.488									Bardet-Biedl_syndrome				G	56534811	A	G	56534811	3	3	104	1	0	0	0	0	1	0	0	0	1338	275	10	3	841	3	BBS2	16	56534811	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	631253	56534811	33819942	5453	72067											
MT1G	4495	broad.mit.edu	37	chr16	56700816	56700816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcagcagctgcacttctccGatgcccctttgcagatgcag	10	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:56700816G>A	uc002eju.1	-	3	233	c.161C>T	c.(160-162)TCG>TTG	p.S54L	MT1G_uc002ejv.1_RNA|MT1H_uc002ejw.2_5'Flank	NM_005950	NP_005941	P13640	MT1G_HUMAN	metallothionein 1G	55	Alpha.						metal ion binding|protein binding				0						GCACTTCTCCGATGCCCCTTT	0.552													A	56700816	G	A	56700816	3	1	104	1	0	0	0	0	1	0	0	0	9901	1059	37	1	28	1	MT1G	16	56700816	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	166005	56700816	33653937	5454	72068											
GPR114	221188	broad.mit.edu	37	chr16	57608945	57608945	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgggccttggccttcttttCttttggcgtcttcctgctgc	10	13	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:57608945C>A	uc002elx.3	+	11	1512	c.1427C>A	c.(1426-1428)TCT>TAT	p.S476Y	GPR114_uc010vhr.1_Missense_Mutation_p.L437I|GPR114_uc002ely.2_Missense_Mutation_p.S476Y	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	476	Helical; Name=6; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						GCCTTCTTTTCTTTTGGCGTC	0.617													A	57608945	C	A	57608945	3	1	104	1	0	0	0	0	1	0	0	0	6631	913	32	5	1465	5	GPR114	16	57608945	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	908129	57608945	32745808	5455	72069											
GPR56	9289	broad.mit.edu	37	chr16	57684226	57684226	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccagtcgctgctgcagacGacactgttcctgctgagtct	10	15	1	2	rs142223451		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:57684226G>A	uc002emb.2	+	3	319	c.27G>A	c.(25-27)ACG>ACA	p.T9T	GPR56_uc002elz.1_Silent_p.T9T|GPR56_uc002ema.1_5'UTR|GPR56_uc002emc.2_Silent_p.T9T|GPR56_uc002emf.2_Silent_p.T9T|GPR56_uc010vhs.1_Silent_p.T9T|GPR56_uc002emd.2_Silent_p.T9T|GPR56_uc002eme.2_Silent_p.T9T|GPR56_uc010vht.1_Silent_p.T9T|GPR56_uc002emg.3_Silent_p.T9T|GPR56_uc010vhu.1_5'UTR	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	9					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						TGCTGCAGACGACACTGTTCC	0.572													A	57684226	G	A	57684226	2	1	104	1	0	0	0	0	0	0	0	1	6700	1045	37	1		1	GPR56	16	57684226	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	75281	57684226	32670527	5456	72070											
CCDC135	84229	broad.mit.edu	37	chr16	57735979	57735979	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtcaacggctacggctcGctggacctgtgccacatgga	13	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:57735979G>A	uc002emi.2	+	5	725	c.636G>A	c.(634-636)TCG>TCA	p.S212S	CCDC135_uc002emj.2_Silent_p.S212S|CCDC135_uc002emk.2_Intron	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	212						cytoplasm				central_nervous_system(1)	1						GCTACGGCTCGCTGGACCTGT	0.582													A	57735979	G	A	57735979	2	1	104	1	0	0	0	0	0	0	0	1	2769	1074	38	1		1	CCDC135	16	57735979	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	51753	57735979	32618774	5457	72071											
CCDC135	84229	broad.mit.edu	37	chr16	57741461	57741461	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggaagcgcgaggtgcctgaGaacttcttcatcgacccatt	12	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:57741461G>T	uc002emi.2	+	7	1037	c.948G>T	c.(946-948)GAG>GAT	p.E316D	CCDC135_uc002emj.2_Missense_Mutation_p.E316D|CCDC135_uc002emk.2_Missense_Mutation_p.E251D	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	316						cytoplasm				central_nervous_system(1)	1						AGGTGCCTGAGAACTTCTTCA	0.577													T	57741461	G	T	57741461	3	4	104	1	0	0	0	0	1	0	0	0	2769	933	33	5	970	5	CCDC135	16	57741461	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5482	57741461	32613292	5458	72072											
CCDC135	84229	broad.mit.edu	37	chr16	57762317	57762317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacaggagcgcatgatgcacGaagagcacctgcggcaggtg	15	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:57762317G>A	uc002emi.2	+	16	2301	c.2212G>A	c.(2212-2214)GAA>AAA	p.E738K	CCDC135_uc002emj.2_Missense_Mutation_p.E738K|CCDC135_uc002emk.2_Missense_Mutation_p.E673K	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	738						cytoplasm				central_nervous_system(1)	1						CATGATGCACGAAGAGCACCT	0.607													A	57762317	G	A	57762317	3	1	104	1	0	0	0	0	1	0	0	0	2769	1059	37	1	2270	1	CCDC135	16	57762317	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	20856	57762317	32592436	5459	72073											
CCDC135	84229	broad.mit.edu	37	chr16	57764845	57764845	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgccctatgaccacaggaGacccaggagctgcaaaagaa	10	12	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:57764845G>T	uc002emi.2	+	17	2483	c.2394G>T	c.(2392-2394)GAG>GAT	p.E798D	CCDC135_uc002emj.2_Missense_Mutation_p.E798D|CCDC135_uc002emk.2_Missense_Mutation_p.E733D	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	798	Potential.					cytoplasm				central_nervous_system(1)	1						GACCACAGGAGACCCAGGAGC	0.567													T	57764845	G	T	57764845	3	4	104	1	0	0	0	0	1	0	0	0	2769	933	33	5	2456	5	CCDC135	16	57764845	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2528	57764845	32589908	5460	72074											
KATNB1	10300	broad.mit.edu	37	chr16	57789257	57789257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgtccatcccacgcagGccgtgaagatcccccagcag	12	15	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:57789257G>A	uc002eml.1	+	16	1791	c.1417G>A	c.(1417-1419)GCC>ACC	p.A473T		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	473	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity				0		all_neural(199;0.223)				TCCCACGCAGGCCGTGAAGAT	0.642													A	57789257	G	A	57789257	3	1	104	1	0	0	0	0	1	0	0	0	7987	1217	42	2	1475	2	KATNB1	16	57789257	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	24412	57789257	32565496	5461	72075											
C16orf80	29105	broad.mit.edu	37	chr16	58150852	58150852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttttgatgtggccattccGtacctacaagaaagaaaatt	7	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:58150852G>A	uc002enb.1	-	2	365	c.88C>T	c.(88-90)CGG>TGG	p.R30W		NM_013242	NP_037374	Q9Y6A4	CP080_HUMAN	transcription factor IIB	30					multicellular organismal development						0						TGGCCATTCCGTACCTACAAG	0.423													A	58150852	G	A	58150852	3	1	104	1	0	0	0	0	1	0	0	0	1837	1144	40	1	513	1	C16orf80	16	58150852	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	361595	58150852	32203901	5462	72076											
CSNK2A2	1459	broad.mit.edu	37	chr16	58220746	58220746	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttaacctctcgttttatcttCtttttcttcactggcttaaa	3	10	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:58220746C>A	uc002enc.2	-	3	373	c.231G>T	c.(229-231)AAG>AAT	p.K77N		NM_001896	NP_001887	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	77	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						GTTTTATCTTCTTTTTCTTCA	0.363													A	58220746	C	A	58220746	3	1	104	1	0	0	0	0	1	0	0	0	3958	912	32	5	857	5	CSNK2A2	16	58220746	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	69894	58220746	32134007	5463	72077											
PRSS54	221191	broad.mit.edu	37	chr16	58320087	58320087	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttacttatacccactataacGacaatgtccttcctggagag	6	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:58320087G>A	uc002enf.2	-	5	671	c.276C>T	c.(274-276)GTC>GTT	p.V92V	PRSS54_uc002eng.2_Silent_p.V92V|PRSS54_uc010vie.1_5'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	92	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CCACTATAACGACAATGTCCT	0.353													A	58320087	G	A	58320087	2	1	104	1	0	0	0	0	0	0	0	1	12633	1045	37	1		1	PRSS54	16	58320087	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	99341	58320087	32034666	5464	72078											
NDRG4	65009	broad.mit.edu	37	chr16	58538160	58538160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggacaacaggtgggggCgtcgcagtttcctcaggggt	16	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:58538160C>T	uc002eno.2	+	3	336	c.230C>T	c.(229-231)GCG>GTG	p.A77V	NDRG4_uc002enk.2_Missense_Mutation_p.A109V|NDRG4_uc002enm.2_Missense_Mutation_p.A129V|NDRG4_uc010vif.1_Missense_Mutation_p.A109V|NDRG4_uc010cdk.2_Missense_Mutation_p.A95V|NDRG4_uc010vig.1_Missense_Mutation_p.A107V|NDRG4_uc010vih.1_Missense_Mutation_p.A22V|NDRG4_uc010vii.1_Missense_Mutation_p.A95V|NDRG4_uc002enp.2_Missense_Mutation_p.A77V|NDRG4_uc002enq.1_5'Flank	NM_022910	NP_075061	Q9ULP0	NDRG4_HUMAN	NDRG family member 4 isoform 1	77					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				skin(1)	1						CAGGTGGGGGCGTCGCAGTTT	0.592													T	58538160	C	T	58538160	3	4	104	1	0	0	0	0	1	0	0	0	10254	768	27	1	404	1	NDRG4	16	58538160	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	218073	58538160	31816593	5465	72079											
CNOT1	23019	broad.mit.edu	37	chr16	58581097	58581097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatctactcaccacactaCgaatgctagattctaagact	4	11	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:58581097C>T	uc002env.2	-	27	4036	c.3743G>A	c.(3742-3744)CGT>CAT	p.R1248H	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.R1243H|CNOT1_uc002enx.2_Missense_Mutation_p.R1248H|CNOT1_uc010vik.1_Missense_Mutation_p.R205H	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1248					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CACCACACTACGAATGCTAGA	0.338													T	58581097	C	T	58581097	3	4	104	1	0	0	0	0	1	0	0	0	3617	536	19	1	3701	1	CNOT1	16	58581097	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	42937	58581097	31773656	5466	72080											
CNOT1	23019	broad.mit.edu	37	chr16	58610407	58610407	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagtattcgagacaatttgGcctgatcatactgctcccct	7	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:58610407G>T	uc002env.2	-	14	1957	c.1664C>A	c.(1663-1665)GCC>GAC	p.A555D	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.A555D|CNOT1_uc002enx.2_Missense_Mutation_p.A555D|CNOT1_uc002enz.1_5'UTR	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	555					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGACAATTTGGCCTGATCATA	0.418													T	58610407	G	T	58610407	3	4	104	1	0	0	0	0	1	0	0	0	3617	1203	42	5	5832	5	CNOT1	16	58610407	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	29310	58610407	31744346	5467	72081											
CDH8	1006	broad.mit.edu	37	chr16	61687875	61687875	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaagttgcaatgtcaaaAgcctctgtgtcctcctcccc	7	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:61687875A>C	uc002eog.1	-	12	2289	c.2037T>G	c.(2035-2037)GCT>GCG	p.A679A		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	679	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CAATGTCAAAAGCCTCTGTGT	0.398													C	61687875	A	C	61687875	2	2	104	1	0	0	0	0	0	0	0	1	3116	59	3	5		5	CDH8	16	61687875	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	3077468	61687875	28666878	5468	72082											
CDH8	1006	broad.mit.edu	37	chr16	61747770	61747770	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttttcttgatggtgaaattCggattgttgaccatttctgg	10	5	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:61747770C>T	uc002eog.1	-	10	1881	c.1629G>A	c.(1627-1629)CCG>CCA	p.P543P		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	543	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGGTGAAATTCGGATTGTTGA	0.333													T	61747770	C	T	61747770	2	4	104	1	0	0	0	0	0	0	0	1	3116	871	31	1		1	CDH8	16	61747770	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	59895	61747770	28606983	5469	72083											
CDH8	1006	broad.mit.edu	37	chr16	61935262	61935262	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccttttcctcccggtcaagtCtttttatagcatggatatct	6	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:61935262C>A	uc002eog.1	-	3	620	c.368G>T	c.(367-369)AGA>ATA	p.R123I		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	123	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCGGTCAAGTCTTTTTATAGC	0.413													A	61935262	C	A	61935262	3	1	104	1	0	0	0	0	1	0	0	0	3116	913	32	5	2071	5	CDH8	16	61935262	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	187492	61935262	28419491	5470	72084											
DYNC1LI2	1783	broad.mit.edu	37	chr16	66764102	66764102	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatgtaaaatagctattttCttttcattgtcccagcctgc	5	10	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:66764102C>A	uc002eqb.1	-	8	985	c.954G>T	c.(952-954)AAG>AAT	p.K318N	DYNC1LI2_uc010vis.1_Missense_Mutation_p.K241N	NM_006141	NP_006132	O43237	DC1L2_HUMAN	dynein, cytoplasmic, light intermediate	318					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|skin(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TAGCTATTTTCTTTTCATTGT	0.423													A	66764102	C	A	66764102	3	1	104	1	0	0	0	0	1	0	0	0	4845	912	32	5	548	5	DYNC1LI2	16	66764102	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4828840	66764102	23590651	5471	72085											
NAE1	8883	broad.mit.edu	37	chr16	66842448	66842448	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atatctaccctgttgtttatGaaatctatcaacagcccgta	5	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:66842448G>T	uc002eqf.2	-	17	1383	c.1306C>A	c.(1306-1308)CAT>AAT	p.H436N	NAE1_uc002eqe.2_Missense_Mutation_p.H430N|NAE1_uc002eqg.2_Missense_Mutation_p.H347N|NAE1_uc010cdv.2_Missense_Mutation_p.H439N	NM_003905	NP_003896	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1 isoform a	436					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TGTTGTTTATGAAATCTATCA	0.303													T	66842448	G	T	66842448	3	4	104	1	0	0	0	0	1	0	0	0	10139	1290	45	5	314	5	NAE1	16	66842448	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	78346	66842448	23512305	5472	72086											
NAE1	8883	broad.mit.edu	37	chr16	66844292	66844292	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttacagagtaattttaattCtttctctgaaatggactctg	6	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:66844292C>A	uc002eqf.2	-	15	1212	c.1135G>T	c.(1135-1137)GAA>TAA	p.E379*	NAE1_uc002eqe.2_Nonsense_Mutation_p.E373*|NAE1_uc002eqg.2_Nonsense_Mutation_p.E290*|NAE1_uc010cdv.2_Nonsense_Mutation_p.E382*	NM_003905	NP_003896	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1 isoform a	379					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	AATTTTAATTCTTTCTCTGAA	0.363													A	66844292	C	A	66844292	4	1	104	1	0	0	0	0	0	1	0	0	10139	922	32	5	493	5	NAE1	16	66844292	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1844	66844292	23510461	5473	72087											
PDP2	57546	broad.mit.edu	37	chr16	66918406	66918406	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaacagaggaagatgatttTcacttgcaactcagccctga	8	10	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:66918406T>G	uc002eqk.1	+	2	381	c.219T>G	c.(217-219)TTT>TTG	p.F73L		NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	pyruvate dehydrogenase phosphatase isoenzyme 2	73					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AAGATGATTTTCACTTGCAAC	0.493													G	66918406	T	G	66918406	3	3	104	1	0	0	0	0	1	0	0	0	11686	1780	62	5	221	5	PDP2	16	66918406	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	74114	66918406	23436347	5474	72088											
CDH16	1014	broad.mit.edu	37	chr16	66943282	66943282	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccacgttgcagcgacacacGatcactgaggggagagggga	15	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:66943282G>A	uc002eql.2	-	17	2353	c.2280C>T	c.(2278-2280)ATC>ATT	p.I760I	CDH16_uc010cdy.2_Silent_p.I738I|CDH16_uc002eqm.2_Silent_p.I663I	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	760	Extracellular (Potential).|Ectodomain G.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AGCGACACACGATCACTgagg	0.507													A	66943282	G	A	66943282	2	1	104	1	0	0	0	0	0	0	0	1	3101	1048	37	1		1	CDH16	16	66943282	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	24876	66943282	23411471	5475	72089											
CDH16	1014	broad.mit.edu	37	chr16	66946441	66946441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcaggggcgtgatcattgAtatctgtgactgcgacttcg	12	9	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:66946441A>G	uc002eql.2	-	11	1398	c.1325T>C	c.(1324-1326)ATC>ACC	p.I442T	CDH16_uc010cdy.2_Missense_Mutation_p.I442T|CDH16_uc002eqm.2_Missense_Mutation_p.I345T	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	442	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTGATCATTGATATCTGTGAC	0.592													G	66946441	A	G	66946441	3	3	104	1	0	0	0	0	1	0	0	0	3101	333	12	3	1196	3	CDH16	16	66946441	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	3159	66946441	23408312	5476	72090											
CDH16	1014	broad.mit.edu	37	chr16	66949216	66949216	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggctcaggatgtggaatcGaagatccgagttggctgtgc	15	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:66949216G>A	uc002eql.2	-	6	563	c.490C>T	c.(490-492)CGA>TGA	p.R164*	CDH16_uc010cdy.2_Nonsense_Mutation_p.R164*|CDH16_uc002eqm.2_Intron	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	164	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ATGTGGAATCGAAGATCCGAG	0.617													A	66949216	G	A	66949216	4	1	104	1	0	0	0	0	0	1	0	0	3101	1066	37	1	2051	1	CDH16	16	66949216	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2775	66949216	23405537	5477	72091											
CES3	23491	broad.mit.edu	37	chr16	66998542	66998542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtcctgtccccagtggCtgcagggctgttccacagag	13	14	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:66998542C>T	uc002eqt.2	+	6	804	c.731C>T	c.(730-732)GCT>GTT	p.A244V	CES3_uc010cdz.2_Missense_Mutation_p.A244V|CES3_uc010cea.2_RNA|CES3_uc010viw.1_5'Flank	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	carboxylesterase 3 precursor	244						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			ovary(3)|central_nervous_system(2)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TCCCCAGTGGCTGCAGGGCTG	0.617													T	66998542	C	T	66998542	3	4	104	1	0	0	0	0	1	0	0	0	3271	797	28	2	753	2	CES3	16	66998542	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	49326	66998542	23356211	5478	72092											
B3GNT9	84752	broad.mit.edu	37	chr16	67183690	67183690	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagatttcccacgttcacGaacacatctgcgtcgccctt	8	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:67183690G>A	uc002erf.2	-	2	1020	c.699C>T	c.(697-699)TTC>TTT	p.F233F	uc002erg.1_Silent_p.T31T	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal	233	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0						CCACGTTCACGAACACATCTG	0.587													A	67183690	G	A	67183690	2	1	104	1	0	0	0	0	0	0	0	1	1264	1049	37	1		1	B3GNT9	16	67183690	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	185148	67183690	23171063	5479	72093											
SLC9A5	6553	broad.mit.edu	37	chr16	67298957	67298957	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcagaaggatggtgtggcGaatgctgaggctacaaatgg	15	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:67298957G>A	uc002esm.2	+	14	2091	c.2028G>A	c.(2026-2028)GCG>GCA	p.A676A	SLC9A5_uc010cee.2_Silent_p.A381A|SLC9A5_uc010vji.1_Silent_p.A180A	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	676					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		ATGGTGTGGCGAATGCTGAGG	0.567													A	67298957	G	A	67298957	2	1	104	1	0	0	0	0	0	0	0	1	14717	1045	37	1		1	SLC9A5	16	67298957	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	115267	67298957	23055796	5480	72094											
CTCF	10664	broad.mit.edu	37	chr16	67645910	67645910	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acacgtgtccacggcgttcaAatttggatcgtcacatgaaa	9	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:67645910A>C	uc002etl.2	+	4	1128	c.838A>C	c.(838-840)AAT>CAT	p.N280H	CTCF_uc010cek.2_Intron	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	280	C2H2-type 1.				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		ACGGCGTTCAAATTTGGATCG	0.458													C	67645910	A	C	67645910	3	2	104	1	0	0	0	0	1	0	0	0	4000	14	1	5	844	5	CTCF	16	67645910	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	346953	67645910	22708843	5481	72095											
RLTPR	146206	broad.mit.edu	37	chr16	67681466	67681466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacactcaagctctgggctgCgggagctcagcctcgcgggg	16	13	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:67681466C>T	uc002etn.2	+	11	952	c.832C>T	c.(832-834)CGG>TGG	p.R278W	RLTPR_uc010cel.1_Missense_Mutation_p.R278W|RLTPR_uc010vjr.1_Missense_Mutation_p.R278W	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	278	LRR 4.									breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTCTGGGCTGCGGGAGCTCAG	0.662													T	67681466	C	T	67681466	3	4	104	1	0	0	0	0	1	0	0	0	13394	759	27	1	874	1	RLTPR	16	67681466	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	35556	67681466	22673287	5482	72096											
THAP11	57215	broad.mit.edu	37	chr16	67876716	67876716	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcccgctgcgcggcgtcaatGagcgcaaagtagcgcgcaga	14	13	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:67876716G>T	uc002euo.2	+	1	504	c.259G>T	c.(259-261)GAG>TAG	p.E87*	CENPT_uc002eun.3_Intron	NM_020457	NP_065190	Q96EK4	THA11_HUMAN	THAP domain containing 11	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CGGCGTCAATGAGCGCAAAGT	0.428													T	67876716	G	T	67876716	4	4	104	1	0	0	0	0	0	1	0	0	15840	1291	45	5	261	5	THAP11	16	67876716	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	195250	67876716	22478037	5483	72097											
DUS2L	54920	broad.mit.edu	37	chr16	68107995	68107995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcttgtgccagatgctacGagaacagctggagtcgcccc	12	13	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:68107995G>A	uc002evi.2	+	13	1018	c.869G>A	c.(868-870)CGA>CAA	p.R290Q	DUS2L_uc002evj.2_Missense_Mutation_p.R290Q|DUS2L_uc010vkk.1_Missense_Mutation_p.R255Q|DUS2L_uc010cez.2_Missense_Mutation_p.R203Q	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2-like, SMM1 homolog	290					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		CAGATGCTACGAGAACAGCTG	0.522													A	68107995	G	A	68107995	3	1	104	1	0	0	0	0	1	0	0	0	4806	1058	37	1	911	1	DUS2L	16	68107995	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	231279	68107995	22246758	5484	72098											
NFATC3	4775	broad.mit.edu	37	chr16	68156942	68156942	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcagtatcctttaaagaaaGattcatgtggtgatcagttt	8	6	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:68156942G>T	uc002evo.1	+	2	1366	c.1156G>T	c.(1156-1158)GAT>TAT	p.D386Y	NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.D386Y|NFATC3_uc002evm.1_Missense_Mutation_p.D386Y|NFATC3_uc002evn.1_Missense_Mutation_p.D386Y|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells,	386					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TTTAAAGAAAGATTCATGTGG	0.448													T	68156942	G	T	68156942	3	4	104	1	0	0	0	0	1	0	0	0	10364	942	33	5	1162	5	NFATC3	16	68156942	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	48947	68156942	22197811	5485	72099											
PRMT7	54496	broad.mit.edu	37	chr16	68381545	68381545	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccctctaggtgtttacagtCgagagttcagcagcttctca	9	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:68381545C>T	uc002evy.1	+	13	1563	c.1287C>T	c.(1285-1287)GTC>GTT	p.V429V	PRMT7_uc002evx.1_Intron|PRMT7_uc010vlg.1_Silent_p.V379V|PRMT7_uc002evz.1_Intron	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	429					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		TGTTTACAGTCGAGAGTTCAG	0.408													T	68381545	C	T	68381545	2	4	104	1	0	0	0	0	0	0	0	1	12541	871	31	1		1	PRMT7	16	68381545	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	224603	68381545	21973208	5486	72100											
PRMT7	54496	broad.mit.edu	37	chr16	68387404	68387404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctcacaggacctgtggCggatccggagcccctgtggt	13	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:68387404C>T	uc002evy.1	+	16	1861	c.1585C>T	c.(1585-1587)CGG>TGG	p.R529W	PRMT7_uc010vlg.1_Missense_Mutation_p.R479W|PRMT7_uc002evz.1_Missense_Mutation_p.R301W|PRMT7_uc010cfd.1_Missense_Mutation_p.R21W	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	529					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		GGACCTGTGGCGGATCCGGAG	0.612													T	68387404	C	T	68387404	3	4	104	1	0	0	0	0	1	0	0	0	12541	759	27	1	1639	1	PRMT7	16	68387404	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5859	68387404	21967349	5487	72101											
SMPD3	55512	broad.mit.edu	37	chr16	68404923	68404923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagccgtagaccccgacgtCgtacaggatgtactcgaagt	12	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:68404923C>T	uc002ewa.2	-	3	1584	c.1162G>A	c.(1162-1164)GAC>AAC	p.D388N	SMPD3_uc010cfe.2_Missense_Mutation_p.D388N|SMPD3_uc010vlh.1_Missense_Mutation_p.D388N	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	388	Lumenal (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	ACCCCGACGTCGTACAGGATG	0.587													T	68404923	C	T	68404923	3	4	104	1	0	0	0	0	1	0	0	0	14806	884	31	1	833	1	SMPD3	16	68404923	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	17519	68404923	21949830	5488	72102											
ZFP90	146198	broad.mit.edu	37	chr16	68597611	68597611	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagaatgctcataccggagaGaaaccctatcagtgtagtct	10	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:68597611G>T	uc010cff.2	+	5	1213	c.921G>T	c.(919-921)GAG>GAT	p.E307D	ZFP90_uc002ewb.2_Missense_Mutation_p.R113I|ZFP90_uc002ewc.2_Missense_Mutation_p.R113I|ZFP90_uc002ewd.2_Missense_Mutation_p.E307D|ZFP90_uc002ewe.2_Missense_Mutation_p.E307D	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	zinc finger protein 90	307					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		ATACCGGAGAGAAACCCTATC	0.488													T	68597611	G	T	68597611	3	4	104	1	0	0	0	0	1	0	0	0	17651	933	33	5	935	5	ZFP90	16	68597611	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	192688	68597611	21757142	5489	72103											
CDH3	1001	broad.mit.edu	37	chr16	68712487	68712487	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcccccctgagggtgtcttCgctgtagagaaggagacagg	15	10	1	3	rs140049723		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:68712487C>T	uc002ewf.2	+	5	1606	c.474C>T	c.(472-474)TTC>TTT	p.F158F	CDH3_uc010vli.1_Silent_p.F103F	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	158	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		AGGGTGTCTTCGCTGTAGAGA	0.498													T	68712487	C	T	68712487	2	4	104	1	0	0	0	0	0	0	0	1	3111	883	31	1		1	CDH3	16	68712487	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	114876	68712487	21642266	5490	72104											
SF3B3	23450	broad.mit.edu	37	chr16	70572358	70572358	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcactttggagacagatgaaGatatggtaagtagaccatgg	12	5	1	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:70572358G>T	uc002ezf.2	+	7	1169	c.958G>T	c.(958-960)GAT>TAT	p.D320Y		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	320					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				GACAGATGAAGATATGGTAAG	0.373													T	70572358	G	T	70572358	3	4	104	1	0	0	0	0	1	0	0	0	14152	942	33	5	980	5	SF3B3	16	70572358	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1859871	70572358	19782395	5491	72105											
IL34	146433	broad.mit.edu	37	chr16	70688478	70688478	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtggccttggggaatgaGcctttggagatgtggccctt	17	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:70688478G>A	uc002ezh.1	+	2	449	c.66G>A	c.(64-66)GAG>GAA	p.E22E	IL34_uc002ezi.1_Silent_p.E22E	NM_152456	NP_689669	Q6ZMJ4	IL34_HUMAN	interleukin 34 precursor	22					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			central_nervous_system(1)|skin(1)	2						TGGGGAATGAGCCTTTGGAGA	0.557											OREG0023916	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	70688478	G	A	70688478	2	1	104	1	0	0	0	0	0	0	0	1	7694	962	34	2		2	IL34	16	70688478	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	116120	70688478	19666275	5492	72106											
HYDIN	54768	broad.mit.edu	37	chr16	70993581	70993581	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcccatgaatgataatggcGatgcctttccggttcttggc	11	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:70993581G>A	uc002ezr.2	-	39	6236	c.6108C>T	c.(6106-6108)ATC>ATT	p.I2036I		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2037										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TGATAATGGCGATGCCTTTCC	0.532													A	70993581	G	A	70993581	2	1	104	1	0	0	0	0	0	0	0	1	7467	1048	37	1		1	HYDIN	16	70993581	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	305103	70993581	19361172	5493	72107											
HYDIN	54768	broad.mit.edu	37	chr16	71025987	71025987	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttacttaacaaaatcattTaaatccatctcgggggactc	5	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:71025987T>C	uc002ezr.2	-	24	3899	c.3771A>G	c.(3769-3771)TTA>TTG	p.L1257L		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	1257										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CAAAATCATTTAAATCCATCT	0.448													C	71025987	T	C	71025987	2	2	104	1	0	0	0	0	0	0	0	1	7467	1751	61	3		3	HYDIN	16	71025987	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	32406	71025987	19328766	5494	72108											
HYDIN	54768	broad.mit.edu	37	chr16	71209538	71209538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctctggagtaaagaggattCggaatatggaaggcactcca	12	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:71209538C>T	uc002ezr.2	-	5	616	c.488G>A	c.(487-489)CGA>CAA	p.R163Q	HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Missense_Mutation_p.R163Q|HYDIN_uc010vmc.1_Missense_Mutation_p.R180Q|HYDIN_uc010vmd.1_Missense_Mutation_p.R190Q|HYDIN_uc002ezw.3_Missense_Mutation_p.R180Q	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	163										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				AAAGAGGATTCGGAATATGGA	0.423													T	71209538	C	T	71209538	3	4	104	1	0	0	0	0	1	0	0	0	7467	884	31	1	15214	1	HYDIN	16	71209538	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	183551	71209538	19145215	5495	72109											
HYDIN	54768	broad.mit.edu	37	chr16	71212926	71212926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaagggctggaataatgCctgatccaggtcaattcctg	12	8	1	1	rs143424105		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:71212926C>T	uc002ezr.2	-	4	414	c.286G>A	c.(286-288)GCA>ACA	p.A96T	HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Missense_Mutation_p.A96T|HYDIN_uc010vmc.1_Missense_Mutation_p.A113T|HYDIN_uc010vmd.1_Missense_Mutation_p.A123T|HYDIN_uc002ezw.3_Missense_Mutation_p.A113T	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	96										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TGGAATAATGCCTGATCCAGG	0.363													T	71212926	C	T	71212926	3	4	104	1	0	0	0	0	1	0	0	0	7467	739	26	2	15420	2	HYDIN	16	71212926	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3388	71212926	19141827	5496	72110											
FTSJD1	55783	broad.mit.edu	37	chr16	71318614	71318614	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttgaaatttttgcataaAatattgtatagcacaatccc	5	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:71318614A>C	uc010cga.2	-	3	1616	c.1210T>G	c.(1210-1212)TTT>GTT	p.F404V	FTSJD1_uc002ezy.3_Missense_Mutation_p.F404V|FTSJD1_uc002ezz.3_Missense_Mutation_p.F404V	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN	FtsJ methyltransferase domain containing 1	404						integral to membrane	methyltransferase activity|nucleic acid binding			skin(1)	1						TTTTGCATAAAATATTGTATA	0.328													C	71318614	A	C	71318614	3	2	104	1	0	0	0	0	1	0	0	0	6090	14	1	5	1106	5	FTSJD1	16	71318614	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	105688	71318614	19036139	5497	72111											
CALB2	794	broad.mit.edu	37	chr16	71408706	71408706	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcatgcagaagtatgataAaaactcagatgggaaaatcg	10	5	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:71408706A>C	uc002faa.3	+	3	300	c.230A>C	c.(229-231)AAA>ACA	p.K77T	CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Missense_Mutation_p.K77T	NM_001740	NP_001731	P22676	CALB2_HUMAN	calbindin 2 isoform 1	77	EF-hand 2.|2; possibly ancestral (Probable).						calcium ion binding				0		Ovarian(137;0.125)				AAGTATGATAAAAACTCAGAT	0.502													C	71408706	A	C	71408706	3	2	104	1	0	0	0	0	1	0	0	0	2574	14	1	5	240	5	CALB2	16	71408706	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	90092	71408706	18946047	5498	72112											
CALB2	794	broad.mit.edu	37	chr16	71423745	71423745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaggacctggagattgtgCtctgcagcgagccccccatg	13	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:71423745C>T	uc002faa.3	+	11	863	c.793C>T	c.(793-795)CTC>TTC	p.L265F	CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_3'UTR	NM_001740	NP_001731	P22676	CALB2_HUMAN	calbindin 2 isoform 1	265	EF-hand 6.						calcium ion binding				0		Ovarian(137;0.125)				GGAGATTGTGCTCTGCAGCGA	0.562													T	71423745	C	T	71423745	3	4	104	1	0	0	0	0	1	0	0	0	2574	797	28	2	835	2	CALB2	16	71423745	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	15039	71423745	18931008	5499	72113											
TAT	6898	broad.mit.edu	37	chr16	71606212	71606212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagttgtttcaggtcaatttCccaagatttctctggctgga	9	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:71606212C>T	uc002fap.2	-	6	682	c.583G>A	c.(583-585)GAA>AAA	p.E195K		NM_000353	NP_000344	P17735	ATTY_HUMAN	tyrosine aminotransferase	195					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(2)	2		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	AGGTCAATTTCCCAAGATTTC	0.408													T	71606212	C	T	71606212	3	4	104	1	0	0	0	0	1	0	0	0	15587	864	30	4	809	4	TAT	16	71606212	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	182467	71606212	18748541	5500	72114											
AP1G1	164	broad.mit.edu	37	chr16	71805084	71805084	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctcattcaataaattTtttgttgctggtaaaaacat	4	6	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:71805084T>G	uc010cgg.2	-	5	854	c.540A>C	c.(538-540)AAA>AAC	p.K180N	AP1G1_uc002fba.2_Missense_Mutation_p.K180N|AP1G1_uc002fbb.2_Missense_Mutation_p.K203N|AP1G1_uc010vmg.1_RNA|AP1G1_uc010vmh.1_Missense_Mutation_p.K262N	NM_001128	NP_001119	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1	180					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			ovary(2)	2		Ovarian(137;0.125)				TCAATAAATTTTTTGTTGCTG	0.343													G	71805084	T	G	71805084	3	3	104	1	0	0	0	0	1	0	0	0	732	1838	64	5	2017	5	AP1G1	16	71805084	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	198872	71805084	18549669	5501	72115											
DHODH	1723	broad.mit.edu	37	chr16	72045994	72045994	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctggggggaggaggacttCtcttcgcctcctacctgatg	13	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:72045994C>A	uc002fbp.2	+	2	88	c.67C>A	c.(67-69)CTC>ATC	p.L23I	DHODH_uc010cgk.2_RNA	NM_001361	NP_001352	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase precursor	23	Helical; (By similarity).				'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity				0		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	AGGAGGACTTCTCTTCGCCTC	0.612													A	72045994	C	A	72045994	3	1	104	1	0	0	0	0	1	0	0	0	4484	913	32	5	73	5	DHODH	16	72045994	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	240910	72045994	18308759	5502	72116											
HP	3240	broad.mit.edu	37	chr16	72093038	72093038	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaccttaaacaatgagaaGcagtggataaataaggctgt	9	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:72093038G>A	uc002fbr.3	+	6	437	c.393G>A	c.(391-393)AAG>AAA	p.K131K	TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.2_Silent_p.K72K|HP_uc002fbt.3_Intron|HP_uc002fbu.1_5'UTR|HP_uc002fbv.3_Silent_p.K42K|HP_uc002fbw.3_5'UTR|HP_uc002fbx.3_5'UTR	NM_005143	NP_005134	P00738	HPT_HUMAN	haptoglobin isoform 1 preproprotein	131	Sushi 2.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity				0		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		ACAATGAGAAGCAGTGGATAA	0.483													A	72093038	G	A	72093038	2	1	104	1	0	0	0	0	0	0	0	1	7327	962	34	2		2	HP	16	72093038	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	47044	72093038	18261715	5503	72117											
ZFHX3	463	broad.mit.edu	37	chr16	72829629	72829629	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcttgttcgaatgtatctatCatttgtaagctcacgccgct	8	10	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:72829629C>T	uc002fck.2	-	9	7625	c.6952G>A	c.(6952-6954)GAT>AAT	p.D2318N	ZFHX3_uc002fcl.2_Missense_Mutation_p.D1404N	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	2318					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				ATGTATCTATCATTTGTAAGC	0.458													T	72829629	C	T	72829629	3	4	104	1	0	0	0	0	1	0	0	0	17631	826	29	4	4167	4	ZFHX3	16	72829629	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	736591	72829629	17525124	5504	72118											
GABARAPL2	11345	broad.mit.edu	37	chr16	75611253	75611253	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcctacagcggagagaacActtttggcttctgagggcca	13	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:75611253A>C	uc002fen.2	+	4	476	c.340A>C	c.(340-342)ACT>CCT	p.T114P	GABARAPL2_uc010cgy.2_RNA	NM_007285	NP_009216	P60520	GBRL2_HUMAN	GABA(A) receptor-associated protein-like 2	114					autophagy|intra-Golgi vesicle-mediated transport|positive regulation of ATPase activity|protein transport	autophagic vacuole membrane|cytosol|Golgi membrane|membrane fraction	ATPase binding|beta-tubulin binding|GABA receptor binding|microtubule binding|SNARE binding			ovary(1)	1						CGGAGAGAACACTTTTGGCTT	0.423													C	75611253	A	C	75611253	3	2	104	1	0	0	0	0	1	0	0	0	6154	159	6	5	354	5	GABARAPL2	16	75611253	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2781624	75611253	14743500	5505	72119											
CNTNAP4	85445	broad.mit.edu	37	chr16	76350318	76350318	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcctcctggcagatgactgtGatgatcctcttgtgtctgcc	10	12	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:76350318G>A	uc002feu.1	+	4	479	c.94G>A	c.(94-96)GAT>AAT	p.D32N	CNTNAP4_uc002fev.1_5'UTR|CNTNAP4_uc010chb.1_Missense_Mutation_p.D7N|CNTNAP4_uc002fex.1_Missense_Mutation_p.D35N|CNTNAP4_uc002few.2_Missense_Mutation_p.D7N	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	32	Extracellular (Potential).|F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						AGATGACTGTGATGATCCTCT	0.473													A	76350318	G	A	76350318	3	1	104	1	0	0	0	0	1	0	0	0	3649	1290	45	4	113	4	CNTNAP4	16	76350318	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	739065	76350318	14004435	5506	72120											
CNTNAP4	85445	broad.mit.edu	37	chr16	76461353	76461353	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccttttcttttagggttTttcaggaaatgcaaatgcag	8	7	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:76461353T>G	uc002feu.1	+	6	780	c.395T>G	c.(394-396)TTT>TGT	p.F132C	CNTNAP4_uc002fev.1_Missense_Mutation_p.F44C|CNTNAP4_uc010chb.1_Missense_Mutation_p.F107C|CNTNAP4_uc002fex.1_Missense_Mutation_p.F135C|CNTNAP4_uc002few.2_Missense_Mutation_p.F107C	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	132	Extracellular (Potential).|F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						TTTTAGGGTTTTTCAGGAAAT	0.408													G	76461353	T	G	76461353	3	3	104	1	0	0	0	0	1	0	0	0	3649	1841	64	5	422	5	CNTNAP4	16	76461353	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	111035	76461353	13893400	5507	72121											
ADAMTS18	170692	broad.mit.edu	37	chr16	77334283	77334283	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccaagctatccctggatTtttgccttgcatcagaatct	6	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:77334283T>C	uc002ffc.3	-	17	2970	c.2551A>G	c.(2551-2553)AAT>GAT	p.N851D	ADAMTS18_uc010chc.1_Missense_Mutation_p.N439D|ADAMTS18_uc002ffe.1_Missense_Mutation_p.N547D	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	851	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						ATCCCTGGATTTTTGCCTTGC	0.428													C	77334283	T	C	77334283	3	2	104	1	0	0	0	0	1	0	0	0	263	1841	64	3	1142	3	ADAMTS18	16	77334283	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	872930	77334283	13020470	5508	72122											
ADAMTS18	170692	broad.mit.edu	37	chr16	77396073	77396073	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtaagatggcatgatcatgtCtcttgccattctttccaatg	8	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:77396073C>A	uc002ffc.3	-	7	1564	c.1145G>T	c.(1144-1146)AGA>ATA	p.R382I	ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_Missense_Mutation_p.R78I|ADAMTS18_uc010vni.1_Intron	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	382	Peptidase M12B.		R -> K (in a colorectal cancer sample; somatic mutation).		proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R382K(1)		large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						ATGATCATGTCTCTTGCCATT	0.413													A	77396073	C	A	77396073	3	1	104	1	0	0	0	0	1	0	0	0	263	913	32	5	2588	5	ADAMTS18	16	77396073	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	61790	77396073	12958680	5509	72123											
CLEC3A	10143	broad.mit.edu	37	chr16	78064634	78064634	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcctaacggtggcaagCgagaaaactgtgtcctgttc	11	11	0	1	rs149998795		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:78064634C>T	uc002ffh.3	+	3	571	c.490C>T	c.(490-492)CGA>TGA	p.R164*		NM_005752	NP_005743	O75596	CLC3A_HUMAN	C-type lectin domain family 3 member A	164	C-type lectin.				skeletal system development	extracellular region	sugar binding				0						CGGTGGCAAGCGAGAAAACTG	0.532													T	78064634	C	T	78064634	4	4	104	1	0	0	0	0	0	1	0	0	3510	760	27	1	500	1	CLEC3A	16	78064634	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	668561	78064634	12290119	5510	72124											
CDYL2	124359	broad.mit.edu	37	chr16	80718445	80718445	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agctacaaaccgagcccgttCtccgccagtgtagcgtgatt	10	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:80718445C>A	uc002ffs.2	-	2	711	c.606G>T	c.(604-606)GAG>GAT	p.E202D		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	202						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						CGAGCCCGTTCTCCGCCAGTG	0.512													A	80718445	C	A	80718445	3	1	104	1	0	0	0	0	1	0	0	0	3186	912	32	5	938	5	CDYL2	16	80718445	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2653811	80718445	9636308	5511	72125											
CENPN	55839	broad.mit.edu	37	chr16	81053750	81053750	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggagaatgcagtctggattCgaattgcctggggaacacag	14	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:81053750C>T	uc002ffx.2	+	6	1190	c.400C>T	c.(400-402)CGA>TGA	p.R134*	CENPN_uc002ffw.3_Nonsense_Mutation_p.R134*|CENPN_uc010vnl.1_Nonsense_Mutation_p.R134*|CENPN_uc010vnm.1_Nonsense_Mutation_p.R114*|CENPN_uc002ffy.3_Nonsense_Mutation_p.R134*	NM_001100624	NP_001094094	Q96H22	CENPN_HUMAN	centromere protein N isoform 2	134					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm					0						AGTCTGGATTCGAATTGCCTG	0.433													T	81053750	C	T	81053750	4	4	104	1	0	0	0	0	0	1	0	0	3238	876	31	1	418	1	CENPN	16	81053750	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	335305	81053750	9301003	5512	72126											
ATMIN	23300	broad.mit.edu	37	chr16	81077066	81077066	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtctttgtgcctacagcCgactcctcagcccagcctgt	8	17	2	0	rs148070606		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:81077066C>T	uc002ffz.1	+	4	981	c.963C>T	c.(961-963)GCC>GCT	p.A321A	ATMIN_uc002fga.2_Silent_p.A163A|ATMIN_uc010vnn.1_Silent_p.A92A|ATMIN_uc002fgb.1_Silent_p.A163A	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	321	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding				0						TGCCTACAGCCGACTCCTCAG	0.527													T	81077066	C	T	81077066	2	4	104	1	0	0	0	0	0	0	0	1	1110	639	23	1		1	ATMIN	16	81077066	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	23316	81077066	9277687	5513	72127											
C16orf46	123775	broad.mit.edu	37	chr16	81097524	81097524	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttcattattttcagcatTttctaagtcagtctcatttt	3	7	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:81097524T>G	uc002fgc.3	-	3	296	c.37A>C	c.(37-39)AAT>CAT	p.N13H	C16orf46_uc010chf.2_Missense_Mutation_p.N13H|C16orf46_uc010vno.1_Intron	NM_152337	NP_689550	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46 isoform 2	13											0						TTTTCAGCATTTTCTAAGTCA	0.323													G	81097524	T	G	81097524	3	3	104	1	0	0	0	0	1	0	0	0	1815	1841	64	5	1186	5	C16orf46	16	81097524	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	20458	81097524	9257229	5514	72128											
PKD1L2	114780	broad.mit.edu	37	chr16	81213297	81213297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgggactgcagaaacgagCtgttcaacagcaacgtggag	13	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:81213297C>T	uc002fgh.1	-	13	2213	c.2213G>A	c.(2212-2214)AGC>AAC	p.S738N	PKD1L2_uc002fgg.1_RNA|PKD1L2_uc002fgi.2_Missense_Mutation_p.S53N|PKD1L2_uc002fgj.2_Missense_Mutation_p.S738N|PKD1L2_uc002fgk.1_5'Flank|PKD1L2_uc002fgl.1_Missense_Mutation_p.S53N	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	738	REJ.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CAGAAACGAGCTGTTCAACAG	0.547													T	81213297	C	T	81213297	3	4	104	1	0	0	0	0	1	0	0	0	11965	797	28	2	5359	2	PKD1L2	16	81213297	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	115773	81213297	9141456	5515	72129											
CMIP	80790	broad.mit.edu	37	chr16	81685954	81685954	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccccactggaaatcgtctcGaaactgctctcagaggtaaa	9	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:81685954G>A	uc002fgp.2	+	4	696	c.624G>A	c.(622-624)TCG>TCA	p.S208S	CMIP_uc002fgq.1_Silent_p.S114S|CMIP_uc010vnq.1_Silent_p.S21S|CMIP_uc002fgr.1_Silent_p.S55S	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	174						cytoplasm|nucleus					0						AAATCGTCTCGAAACTGCTCT	0.582													A	81685954	G	A	81685954	2	1	104	1	0	0	0	0	0	0	0	1	3578	1045	37	1		1	CMIP	16	81685954	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	472657	81685954	8668799	5516	72130											
PLCG2	5336	broad.mit.edu	37	chr16	81934292	81934292	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggccaaggccttcaaggaAgtatttggcgacctgctgtt	12	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:81934292A>C	uc002fgt.2	+	14	1421	c.1269A>C	c.(1267-1269)GAA>GAC	p.E423D	PLCG2_uc010chg.1_Missense_Mutation_p.E423D	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	423	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						CCTTCAAGGAAGTATTTGGCG	0.607													C	81934292	A	C	81934292	3	2	104	1	0	0	0	0	1	0	0	0	12036	69	3	5	1319	5	PLCG2	16	81934292	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	248338	81934292	8420461	5517	72131											
PLCG2	5336	broad.mit.edu	37	chr16	81944184	81944184	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catggagggcgggaccctgaAatactacttgactgacaacc	11	11	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:81944184A>C	uc002fgt.2	+	18	1945	c.1793A>C	c.(1792-1794)AAA>ACA	p.K598T	PLCG2_uc010chg.1_Missense_Mutation_p.K598T	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	598	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						GGGACCCTGAAATACTACTTG	0.647													C	81944184	A	C	81944184	3	2	104	1	0	0	0	0	1	0	0	0	12036	14	1	5	1859	5	PLCG2	16	81944184	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	9892	81944184	8410569	5518	72132											
NECAB2	54550	broad.mit.edu	37	chr16	84031879	84031879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagtttctggactctctgCgccagtatctgcgggggacc	14	12	3	0	rs141800256		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:84031879C>T	uc002fhd.2	+	10	936	c.919C>T	c.(919-921)CGC>TGC	p.R307C	NECAB2_uc002fhe.2_Missense_Mutation_p.R224C	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN	neuronal calcium-binding protein 2	307	ABM.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			ovary(2)	2						GGACTCTCTGCGCCAGTATCT	0.662													T	84031879	C	T	84031879	3	4	104	1	0	0	0	0	1	0	0	0	10305	768	27	1	957	1	NECAB2	16	84031879	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2087695	84031879	6322874	5519	72133											
HSDL1	83693	broad.mit.edu	37	chr16	84164808	84164808	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtaaaagtcacagatgAcagtgatgctttttctggcc	11	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:84164808A>G	uc002fhk.2	-	3	303	c.119T>C	c.(118-120)GTC>GCC	p.V40A	HSDL1_uc010vnv.1_Missense_Mutation_p.V40A	NM_031463	NP_113651	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1 isoform a	40	Required for mitochondria translocation.					mitochondrion	oxidoreductase activity|protein binding				0						GTCACAGATGACAGTGATGCT	0.498													G	84164808	A	G	84164808	3	3	104	1	0	0	0	0	1	0	0	0	7393	275	10	3	889	3	HSDL1	16	84164808	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	132929	84164808	6189945	5520	72134											
USP10	9100	broad.mit.edu	37	chr16	84792352	84792352	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtaaccctaatccataAaccagtgtcgttgcaacccc	6	13	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:84792352A>C	uc002fii.2	+	5	1365	c.1223A>C	c.(1222-1224)AAA>ACA	p.K408T	USP10_uc010voe.1_Missense_Mutation_p.K412T|USP10_uc010vof.1_5'UTR|USP10_uc002fij.2_Intron	NM_005153	NP_005144	Q14694	UBP10_HUMAN	ubiquitin specific protease 10	408					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						CTAATCCATAAACCAGTGTCG	0.438													C	84792352	A	C	84792352	3	2	104	1	0	0	0	0	1	0	0	0	17038	14	1	5	1241	5	USP10	16	84792352	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	627544	84792352	5562401	5521	72135											
CRISPLD2	83716	broad.mit.edu	37	chr16	84879404	84879404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctgcagacctgggatgacGaactggagaagtctgctgca	13	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:84879404G>A	uc010voh.1	+	3	480	c.253G>A	c.(253-255)GAA>AAA	p.E85K	CRISPLD2_uc010vog.1_Missense_Mutation_p.E85K|CRISPLD2_uc002fio.2_Missense_Mutation_p.E85K|CRISPLD2_uc002fil.2_Missense_Mutation_p.E85K|CRISPLD2_uc002fim.2_Missense_Mutation_p.E85K|CRISPLD2_uc002fin.3_Missense_Mutation_p.E85K	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain	85						extracellular region|transport vesicle					0						CTGGGATGACGAACTGGAGAA	0.617													A	84879404	G	A	84879404	3	1	104	1	0	0	0	0	1	0	0	0	3883	1059	37	1	259	1	CRISPLD2	16	84879404	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	87052	84879404	5475349	5522	72136											
JPH3	57338	broad.mit.edu	37	chr16	87723916	87723916	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgccccgaggaccggggcttCggggtgcagagactgcggtc	18	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:87723916C>T	uc002fkd.2	+	4	2204	c.1950C>T	c.(1948-1950)TTC>TTT	p.F650F	JPH3_uc010vou.1_RNA	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	650	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)		ACCGGGGCTTCGGGGTGCAGA	0.692													T	87723916	C	T	87723916	2	4	104	1	0	0	0	0	0	0	0	1	7962	883	31	1		1	JPH3	16	87723916	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2844512	87723916	2630837	5523	72137											
SLC7A5	8140	broad.mit.edu	37	chr16	87902728	87902728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgagctccgcgtagcagaGcgcgcccacgatggagaaga	15	13	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:87902728G>A	uc002fkm.2	-	1	373	c.301C>T	c.(301-303)CTC>TTC	p.L101F		NM_003486	NP_003477	Q01650	LAT1_HUMAN	solute carrier family 7 (cationic amino acid	101	Helical; (Potential).				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding				0				BRCA - Breast invasive adenocarcinoma(80;0.049)		GCGTAGCAGAGCGCGCCCACG	0.687													A	87902728	G	A	87902728	3	1	104	1	0	0	0	0	1	0	0	0	14700	971	34	2	1262	2	SLC7A5	16	87902728	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	178812	87902728	2452025	5524	72138											
CBFA2T3	863	broad.mit.edu	37	chr16	88958361	88958361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcttggaatgaaactcctCgatcgtcaatgtcgagttct	9	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:88958361C>T	uc002fmm.1	-	5	826	c.640G>A	c.(640-642)GAG>AAG	p.E214K	CBFA2T3_uc002fml.1_Missense_Mutation_p.E128K|CBFA2T3_uc010cif.1_Missense_Mutation_p.E153K|CBFA2T3_uc002fmn.1_Missense_Mutation_p.E189K	NM_005187	NP_005178	O75081	MTG16_HUMAN	myeloid translocation gene on chromosome 16	214	TAFH.|Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TGAAACTCCTCGATCGTCAAT	0.597			T	RUNX1	AML								T	88958361	C	T	88958361	3	4	104	1	0	0	0	0	1	0	0	0	2698	893	31	1	1353	1	CBFA2T3	16	88958361	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1055633	88958361	1396392	5525	72139											
CBFA2T3	863	broad.mit.edu	37	chr16	88958681	88958681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccagtgtgcgcacgcGctccccaatctctggggaga	12	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:88958681G>A	uc002fmm.1	-	4	778	c.592C>T	c.(592-594)CGC>TGC	p.R198C	CBFA2T3_uc002fml.1_Missense_Mutation_p.R112C|CBFA2T3_uc010cif.1_Missense_Mutation_p.R137C|CBFA2T3_uc002fmn.1_Missense_Mutation_p.R173C	NM_005187	NP_005178	O75081	MTG16_HUMAN	myeloid translocation gene on chromosome 16	198	TAFH.|Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GTGCGCACGCGCTCCCCAATC	0.647			T	RUNX1	AML								A	88958681	G	A	88958681	3	1	104	1	0	0	0	0	1	0	0	0	2698	1087	38	1	1405	1	CBFA2T3	16	88958681	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	320	88958681	1396072	5526	72140											
CDH15	1013	broad.mit.edu	37	chr16	89250017	89250017	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaccccacggacctggagaTtgtagttgtggatcagaatg	14	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:89250017T>G	uc002fmt.2	+	4	496	c.419T>G	c.(418-420)ATT>AGT	p.I140S	CDH15_uc010cij.1_Missense_Mutation_p.I140S	NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	140	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GACCTGGAGATTGTAGTTGTG	0.612													G	89250017	T	G	89250017	3	3	104	1	0	0	0	0	1	0	0	0	3100	1493	52	5	433	5	CDH15	16	89250017	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	291336	89250017	1104736	5527	72141											
ANKRD11	29123	broad.mit.edu	37	chr16	89348754	89348754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaactccgtaagcatccGcctccaggaagtccttttcg	8	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:89348754G>A	uc002fmx.1	-	9	4657	c.4196C>T	c.(4195-4197)GCG>GTG	p.A1399V	ANKRD11_uc002fmy.1_Missense_Mutation_p.A1399V|ANKRD11_uc002fnc.1_Missense_Mutation_p.A1399V|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.A1356V	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1399	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GTAAGCATCCGCCTCCAGGAA	0.443													A	89348754	G	A	89348754	3	1	104	1	0	0	0	0	1	0	0	0	639	1087	38	1	3815	1	ANKRD11	16	89348754	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	98737	89348754	1005999	5528	72142											
C16orf7	9605	broad.mit.edu	37	chr16	89776282	89776282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcagctgtgtttaggccttCgaaggccagaagggtcagcg	16	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:89776282C>T	uc002fom.1	-	11	1416	c.1291G>A	c.(1291-1293)GAA>AAA	p.E431K	C16orf7_uc002fol.1_Missense_Mutation_p.E361K|uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	431					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TTTAGGCCTTCGAAGGCCAGA	0.617													T	89776282	C	T	89776282	3	4	104	1	0	0	0	0	1	0	0	0	1828	893	31	1	624	1	C16orf7	16	89776282	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	427528	89776282	578471	5529	72143											
DEF8	54849	broad.mit.edu	37	chr16	90016033	90016033	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcacgccgcgggcaggAcgcgggaggccaggtccgtg	20	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr16:90016033A>G	uc002fpn.1	+	2	249	c.160A>G	c.(160-162)ACG>GCG	p.T54A	DEF8_uc002fpl.2_Intron|DEF8_uc002fpm.2_Intron|DEF8_uc002fpo.1_Intron|DEF8_uc002fpp.1_Intron|DEF8_uc010vpq.1_Intron|DEF8_uc010vpr.1_Intron	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 isoform 1	54					intracellular signal transduction		zinc ion binding			central_nervous_system(1)	1		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CGCGGGCAGGACGCGGGAGGC	0.672													G	90016033	A	G	90016033	3	3	104	1	0	0	0	0	1	0	0	0	4387	275	10	3	162	3	DEF8	16	90016033	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	239751	90016033	338720	5530	72144											
NXN	64359	broad.mit.edu	37	chr17	708413	708413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaactcccggcagtcctcgtCgttcagcacctccacccgcc	8	20	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:708413C>T	uc002fsa.2	-	6	987	c.895G>A	c.(895-897)GAC>AAC	p.D299N	NXN_uc010vqd.1_Intron|NXN_uc002frz.2_Missense_Mutation_p.D50N|NXN_uc010vqe.1_Missense_Mutation_p.D191N	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	299	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CAGTCCTCGTCGTTCAGCACC	0.682													T	708413	C	T	708413	3	4	104	1	0	0	0	0	1	0	0	0	10787	884	31	1	424	1	NXN	17	708413	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08		708413	80486797	5531	72145											
HIC1	3090	broad.mit.edu	37	chr17	1960258	1960258	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccgcctggctgacggcgcaGaggcggctgcggccgcggcc	19	16	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:1960258G>A	uc010cjy.2	+	2	331	c.331G>A	c.(331-333)GAG>AAG	p.E111K	HIC1_uc002fty.3_Missense_Mutation_p.E92K|HIC1_uc002ftz.3_Missense_Mutation_p.E92K	NM_001098202	NP_001091672	Q14526	HIC1_HUMAN	hypermethylated in cancer 1 isoform 2	111	Poly-Ala.				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1				READ - Rectum adenocarcinoma(1115;0.236)		TGACGGCGCAGAGGCGGCTGC	0.721													A	1960258	G	A	1960258	3	1	104	1	0	0	0	0	1	0	0	0	7101	943	33	4	337	4	HIC1	17	1960258	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1251845	1960258	79234952	5532	72146											
SMG6	23293	broad.mit.edu	37	chr17	2201202	2201202	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttccgaatctgttctgggttCtcaacattcggatccttgac	8	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:2201202C>T	uc002fub.1	-	3	2050	c.1995G>A	c.(1993-1995)GAG>GAA	p.E665E		NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	665					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4						GTTCTGGGTTCTCAACATTCG	0.423													T	2201202	C	T	2201202	2	4	104	1	0	0	0	0	0	0	0	1	14797	912	32	4		4	SMG6	17	2201202	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	240944	2201202	78994008	5533	72147											
TSR1	55720	broad.mit.edu	37	chr17	2239404	2239404	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagttcttttctcaccTtcttgcttagggttttcagt	8	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:2239404T>G	uc002fuj.2	-	2	1085	c.128A>C	c.(127-129)AAG>ACG	p.K43T	SGSM2_uc002fum.3_5'Flank|SGSM2_uc010vqw.1_5'Flank|SGSM2_uc002fun.3_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation	43					ribosome assembly	nucleolus	protein binding			ovary(1)	1						TTTTCTCACCTTCTTGCTTAG	0.567													G	2239404	T	G	2239404	3	3	104	1	0	0	0	0	1	0	0	0	16661	1609	56	5	2342	5	TSR1	17	2239404	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	38202	2239404	78955806	5534	72148											
PAFAH1B1	5048	broad.mit.edu	37	chr17	2570370	2570370	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtcagaaacgagacccaaaaGaatggattccccgtccgcca	9	13	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:2570370G>T	uc002fuw.3	+	5	845	c.277G>T	c.(277-279)GAA>TAA	p.E93*	PAFAH1B1_uc010ckb.1_RNA	NM_000430	NP_000421	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase,	93	Interaction with NDEL1 (By similarity).|Interaction with dynein and dynactin.			E -> G (in Ref. 3; AAL34973).	acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			skin(1)	1						AGACCCAAAAGAATGGATTCC	0.428													T	2570370	G	T	2570370	4	4	104	1	0	0	0	0	0	1	0	0	11384	943	33	5	291	5	PAFAH1B1	17	2570370	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	330966	2570370	78624840	5535	72149											
OR1G1	8390	broad.mit.edu	37	chr17	3030537	3030537	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcatcacaaataacatgaaAaaatacaactgtagtagaca	5	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:3030537A>C	uc002fvc.1	-	1	309	c.309T>G	c.(307-309)TTT>TTG	p.F103L		NM_003555	NP_003546	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G,	103	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ATAACATGAAAAAATACAACT	0.473													C	3030537	A	C	3030537	3	2	104	1	0	0	0	0	1	0	0	0	10957	11	1	5	636	5	OR1G1	17	3030537	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	460167	3030537	78164673	5536	72150											
OR1A2	26189	broad.mit.edu	37	chr17	3101260	3101260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttattgctgggtcttggGtgattggaaacaccagtgct	13	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:3101260G>A	uc002fvd.1	+	1	448	c.448G>A	c.(448-450)GTG>ATG	p.V150M		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A,	150	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						TGGGTCTTGGGTGATTGGAAA	0.493													A	3101260	G	A	3101260	3	1	104	1	0	0	0	0	1	0	0	0	10950	1261	44	4	450	4	OR1A2	17	3101260	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	70723	3101260	78093950	5537	72151											
OR3A1	4994	broad.mit.edu	37	chr17	3195189	3195189	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctctacagagcgaattcGcaggactgcagctgccacgt	11	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:3195189G>A	uc002fvh.1	-	1	688	c.688C>T	c.(688-690)CGA>TGA	p.R230*		NM_002550	NP_002541	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A,	230	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R230*(1)		kidney(2)|central_nervous_system(1)	3						GAGCGAATTCGCAGGACTGCA	0.483													A	3195189	G	A	3195189	4	1	104	1	0	0	0	0	0	1	0	0	11037	1095	38	1	263	1	OR3A1	17	3195189	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	93929	3195189	78000021	5538	72152											
OR3A1	4994	broad.mit.edu	37	chr17	3195809	3195809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactggctgcagccctggcGcctccagcaagcccagcagg	12	17	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:3195809G>A	uc002fvh.1	-	1	68	c.68C>T	c.(67-69)GCG>GTG	p.A23V		NM_002550	NP_002541	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A,	23	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|central_nervous_system(1)	3						CAGCCCTGGCGCCTCCAGCAA	0.567													A	3195809	G	A	3195809	3	1	104	1	0	0	0	0	1	0	0	0	11037	1087	38	1	883	1	OR3A1	17	3195809	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	620	3195809	77999401	5539	72153											
TRPV3	162514	broad.mit.edu	37	chr17	3436055	3436055	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagtaggatcatgtcgtAcatgcgcttcacaaagtcat	9	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:3436055A>G	uc002fvt.1	-	8	1283	c.961T>C	c.(961-963)TAC>CAC	p.Y321H	TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.Y305H|TRPV3_uc010vri.1_Missense_Mutation_p.Y276H|TRPV3_uc010vrj.1_Missense_Mutation_p.Y305H|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.Y305H|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.Y321H|TRPV3_uc002fvu.2_Missense_Mutation_p.Y321H|TRPV3_uc010vrn.1_5'Flank	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	321	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	ATCATGTCGTACATGCGCTTC	0.602													G	3436055	A	G	3436055	3	3	104	1	0	0	0	0	1	0	0	0	16594	391	14	3	1455	3	TRPV3	17	3436055	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	240246	3436055	77759155	5540	72154											
TRPV3	162514	broad.mit.edu	37	chr17	3436154	3436154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagtcccgcgaggtgatgtCcgtctgctcgtgctccatca	12	13	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:3436154C>T	uc002fvt.1	-	8	1184	c.862G>A	c.(862-864)GAC>AAC	p.D288N	TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.D272N|TRPV3_uc010vri.1_Missense_Mutation_p.D243N|TRPV3_uc010vrj.1_Missense_Mutation_p.D272N|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.D272N|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.D288N|TRPV3_uc002fvu.2_Missense_Mutation_p.D288N|TRPV3_uc010vrn.1_5'Flank	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	288	ANK 2.|Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	GAGGTGATGTCCGTCTGCTCG	0.607													T	3436154	C	T	3436154	3	4	104	1	0	0	0	0	1	0	0	0	16594	855	30	4	1554	4	TRPV3	17	3436154	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	99	3436154	77759056	5541	72155											
P2RX5	5026	broad.mit.edu	37	chr17	3593419	3593419	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctttatgaaaatggtgaagtCttcggcctccttcaggaatg	10	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:3593419C>A	uc002fwi.2	-	6	843	c.559G>T	c.(559-561)GAC>TAC	p.D187Y	P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Missense_Mutation_p.D187Y|P2RX5_uc010vrx.1_Missense_Mutation_p.D127Y|P2RX5_uc002fwj.2_Missense_Mutation_p.D163Y|P2RX5_uc002fwk.2_Missense_Mutation_p.D187Y|P2RX5_uc002fwl.2_Missense_Mutation_p.D163Y	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	purinergic receptor P2X5 isoform A	187	Extracellular (Potential).				nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						ATGGTGAAGTCTTCGGCCTCC	0.587													A	3593419	C	A	3593419	3	1	104	1	0	0	0	0	1	0	0	0	11343	913	32	5	737	5	P2RX5	17	3593419	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	157265	3593419	77601791	5542	72156											
P2RX5	5026	broad.mit.edu	37	chr17	3595070	3595070	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgacgtcttggtaacccttCtttatcaggaacacccatct	6	13	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:3595070C>A	uc002fwi.2	-	2	440	c.156G>T	c.(154-156)AAG>AAT	p.K52N	P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Missense_Mutation_p.K52N|P2RX5_uc010vrx.1_Missense_Mutation_p.K16N|P2RX5_uc002fwj.2_Missense_Mutation_p.K52N|P2RX5_uc002fwk.2_Missense_Mutation_p.K52N|P2RX5_uc002fwl.2_Missense_Mutation_p.K52N|P2RX5_uc002fwm.1_Missense_Mutation_p.K52N	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	purinergic receptor P2X5 isoform A	52	Extracellular (Potential).				nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						GGTAACCCTTCTTTATCAGGA	0.602													A	3595070	C	A	3595070	3	1	104	1	0	0	0	0	1	0	0	0	11343	912	32	5	1160	5	P2RX5	17	3595070	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1651	3595070	77600140	5543	72157											
C17orf85	55421	broad.mit.edu	37	chr17	3721585	3721585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcaactgagattccacttCgtcagcatacatagtcattt	5	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:3721585C>T	uc010ckl.1	-	10	1305	c.1282G>A	c.(1282-1284)GAA>AAA	p.E428K	C17orf85_uc002fwr.2_Missense_Mutation_p.E138K|C17orf85_uc002fwq.2_Missense_Mutation_p.E148K	NM_001114118	NP_001107590	Q53F19	CQ085_HUMAN	ELG protein isoform a	428							nucleotide binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		GATTCCACTTCGTCAGCATAC	0.323													T	3721585	C	T	3721585	3	4	104	1	0	0	0	0	1	0	0	0	1888	893	31	1	596	1	C17orf85	17	3721585	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	126515	3721585	77473625	5544	72158											
C17orf85	55421	broad.mit.edu	37	chr17	3724565	3724565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgtcgatgtttatacgaCgtcaagccaacgtcatcccc	8	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:3724565C>T	uc010ckl.1	-	9	1001	c.978G>A	c.(976-978)ACG>ACA	p.T326T	C17orf85_uc002fwr.2_Silent_p.T36T|C17orf85_uc002fwq.2_Silent_p.T46T	NM_001114118	NP_001107590	Q53F19	CQ085_HUMAN	ELG protein isoform a	326							nucleotide binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		GTTTATACGACGTCAAGCCAA	0.433													T	3724565	C	T	3724565	2	4	104	1	0	0	0	0	0	0	0	1	1888	523	19	1		1	C17orf85	17	3724565	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2980	3724565	77470645	5545	72159											
ZZEF1	23140	broad.mit.edu	37	chr17	3922983	3922983	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcttctgaacctccaggaaGaaataatcggtctttttcat	6	10	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:3922983G>T	uc002fxe.2	-	46	7549	c.7485C>A	c.(7483-7485)TTC>TTA	p.F2495L	ZZEF1_uc002fxg.1_5'Flank	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2495							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CCTCCAGGAAGAAATAATCGG	0.562													T	3922983	G	T	3922983	3	4	104	1	0	0	0	0	1	0	0	0	18252	933	33	5	1440	5	ZZEF1	17	3922983	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	198418	3922983	77272227	5546	72160											
ANKFY1	51479	broad.mit.edu	37	chr17	4071204	4071204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaagacgtccgcagtgacGactgtggaagcaaagaaagg	14	7	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:4071204G>A	uc002fxn.2	-	25	3622	c.3505C>T	c.(3505-3507)CGT>TGT	p.R1169C	ANKFY1_uc002fxo.2_Missense_Mutation_p.R1128C|ANKFY1_uc002fxp.2_Missense_Mutation_p.R1126C|ANKFY1_uc010ckp.2_Missense_Mutation_p.R1069C	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1127	FYVE-type.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						CCGCAGTGACGACTGTGGAAG	0.512													A	4071204	G	A	4071204	3	1	104	1	0	0	0	0	1	0	0	0	626	1072	37	1	134	1	ANKFY1	17	4071204	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	148221	4071204	77124006	5547	72161											
ANKFY1	51479	broad.mit.edu	37	chr17	4085508	4085508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcctccagattgtttgCcaatgcaagccacagcgggg	12	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:4085508C>T	uc002fxq.1	-	15	2127	c.2089G>A	c.(2089-2091)GCA>ACA	p.A697T	ANKFY1_uc002fxn.2_Missense_Mutation_p.A739T|ANKFY1_uc002fxo.2_Missense_Mutation_p.A698T|ANKFY1_uc002fxp.2_Missense_Mutation_p.A696T|ANKFY1_uc010ckp.2_Missense_Mutation_p.A639T	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	697	ANK 11.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						AGATTGTTTGCCAATGCAAGC	0.527													T	4085508	C	T	4085508	3	4	104	1	0	0	0	0	1	0	0	0	626	739	26	2	1464	2	ANKFY1	17	4085508	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	14304	4085508	77109702	5548	72162											
SPNS3	201305	broad.mit.edu	37	chr17	4337402	4337402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtggagggcctacgtggCtgccgccgtcctctgctaca	13	16	1	0	rs34349047	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:4337402C>T	uc002fxt.2	+	1	184	c.140C>T	c.(139-141)GCT>GTT	p.A47V	SPNS3_uc002fxu.2_5'UTR	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3	47					lipid transport|transmembrane transport	integral to membrane				large_intestine(1)	1						GCCTACGTGGCTGCCGCCGTC	0.642													T	4337402	C	T	4337402	3	4	104	1	0	0	0	0	1	0	0	0	15075	797	28	2	142	2	SPNS3	17	4337402	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	251894	4337402	76857808	5549	72163											
PELP1	27043	broad.mit.edu	37	chr17	4578449	4578449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggacctggggaagcaggCggccgatcaggatcccaaag	16	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:4578449C>T	uc002fyi.3	-	11	1425	c.1199G>A	c.(1198-1200)CGC>CAC	p.R400H	PELP1_uc010vsf.1_Missense_Mutation_p.R253H	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	400					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2						GGGAAGCAGGCGGCCGATCAG	0.602													T	4578449	C	T	4578449	3	4	104	1	0	0	0	0	1	0	0	0	11725	768	27	1	2221	1	PELP1	17	4578449	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	241047	4578449	76616761	5550	72164											
CXCL16	58191	broad.mit.edu	37	chr17	4638447	4638447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacataggaaagggctgCggtgaggatgaagatgatgg	17	5	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:4638447C>T	uc002fyr.3	-	4	1247	c.715G>A	c.(715-717)GCA>ACA	p.A239T	CXCL16_uc002fyq.3_Missense_Mutation_p.A81T|CXCL16_uc002fys.3_Missense_Mutation_p.A239T	NM_022059	NP_071342	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	220	Helical; (Potential).				lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity				0						GAAAGGGCTGCGGTGAGGATG	0.592													T	4638447	C	T	4638447	3	4	104	1	0	0	0	0	1	0	0	0	4083	768	27	1	114	1	CXCL16	17	4638447	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	59998	4638447	76556763	5551	72165											
SLC25A11	8402	broad.mit.edu	37	chr17	4841845	4841845	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accctcttcccgggtgattcGaatcagggcgttaaacacat	9	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:4841845G>A	uc002fzo.1	-	4	621	c.508C>T	c.(508-510)CGA>TGA	p.R170*	SLC25A11_uc002fzp.1_Nonsense_Mutation_p.R166*|RNF167_uc002fzq.2_5'Flank|RNF167_uc002fzr.2_5'Flank|RNF167_uc002fzs.2_5'Flank|RNF167_uc002fzt.2_5'Flank|RNF167_uc002fzu.2_5'Flank|RNF167_uc002fzv.2_5'Flank|RNF167_uc002fzw.1_5'Flank|RNF167_uc002fzx.2_5'Flank	NM_003562	NP_003553	Q02978	M2OM_HUMAN	solute carrier family 25 member 11 isoform 1	170	Solcar 2.				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity				0						CGGGTGATTCGAATCAGGGCG	0.567													A	4841845	G	A	4841845	4	1	104	1	0	0	0	0	0	1	0	0	14473	1066	37	1	456	1	SLC25A11	17	4841845	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	203398	4841845	76353365	5552	72166											
KIF1C	10749	broad.mit.edu	37	chr17	4927223	4927223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaaggtcccaccatccccGcaggaactccctggatggag	11	16	0	0	rs139120839		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:4927223G>A	uc002gan.1	+	23	3415	c.3089G>A	c.(3088-3090)CGC>CAC	p.R1030H		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	1030	Pro-rich.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						CACCATCCCCGCAGGAACTCC	0.672													A	4927223	G	A	4927223	3	1	104	1	0	0	0	0	1	0	0	0	8285	1087	38	1	3171	1	KIF1C	17	4927223	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	85378	4927223	76267987	5553	72167											
ZNF594	84622	broad.mit.edu	37	chr17	5085969	5085969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtttgaggaaagctgtgCgccaaatgaagagcttccca	12	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:5085969C>T	uc010cla.1	-	2	1739	c.1583G>A	c.(1582-1584)CGC>CAC	p.R528H		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	528	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						GAAAGCTGTGCGCCAAATGAA	0.458													T	5085969	C	T	5085969	3	4	104	1	0	0	0	0	1	0	0	0	18021	768	27	1	844	1	ZNF594	17	5085969	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	158746	5085969	76109241	5554	72168											
ZNF594	84622	broad.mit.edu	37	chr17	5086896	5086896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttgagcttcccttaaaaGccttcccacactctttgcac	6	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:5086896G>A	uc010cla.1	-	2	812	c.656C>T	c.(655-657)GCT>GTT	p.A219V		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	219	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						TCCCTTAAAAGCCTTCCCACA	0.448													A	5086896	G	A	5086896	3	1	104	1	0	0	0	0	1	0	0	0	18021	971	34	2	1771	2	ZNF594	17	5086896	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	927	5086896	76108314	5555	72169											
NLRP1	22861	broad.mit.edu	37	chr17	5434015	5434015	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtaggagccagctacaggGaagtgaactctgggaagaag	16	7	1	2	rs35985646		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:5434015G>A	uc002gci.2	-	12	3861	c.3306C>T	c.(3304-3306)TTC>TTT	p.F1102F	NLRP1_uc002gcg.1_Silent_p.F1106F|NLRP1_uc002gck.2_Silent_p.F1102F|NLRP1_uc002gcj.2_Silent_p.F1072F|NLRP1_uc002gcl.2_Silent_p.F1072F|NLRP1_uc002gch.3_Silent_p.F1102F|NLRP1_uc010clh.2_Silent_p.F1102F	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	1102					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				CAGCTACAGGGAAGTGAACTC	0.368													A	5434015	G	A	5434015	2	1	104	1	0	0	0	0	0	0	0	1	10471	1165	41	4		4	NLRP1	17	5434015	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	347119	5434015	75761195	5556	72170											
NLRP1	22861	broad.mit.edu	37	chr17	5442742	5442742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagggccttaccccaggcGtatgagtttgcaggcaggat	13	11	0	1	rs139267837	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:5442742G>A	uc002gci.2	-	7	3418	c.2863C>T	c.(2863-2865)CGC>TGC	p.R955C	NLRP1_uc002gcg.1_Missense_Mutation_p.R955C|NLRP1_uc002gck.2_Missense_Mutation_p.R955C|NLRP1_uc002gcj.2_Missense_Mutation_p.R955C|NLRP1_uc002gcl.2_Missense_Mutation_p.R955C|NLRP1_uc002gch.3_Missense_Mutation_p.R955C|NLRP1_uc010clh.2_Missense_Mutation_p.R955C	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	955	LRR 6.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				TACCCCAGGCGTATGAGTTTG	0.532													A	5442742	G	A	5442742	3	1	104	1	0	0	0	0	1	0	0	0	10471	1145	40	1	1677	1	NLRP1	17	5442742	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	8727	5442742	75752468	5557	72171											
PITPNM3	83394	broad.mit.edu	37	chr17	6387538	6387538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccgaagcccagcctacctCgctgtcttcgtggatctcga	9	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:6387538C>T	uc002gdd.3	-	5	500	c.349G>A	c.(349-351)GAG>AAG	p.E117K	PITPNM3_uc010cln.2_Missense_Mutation_p.E81K|PITPNM3_uc002gdc.3_5'Flank	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	117					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CAGCCTACCTCGCTGTCTTCG	0.443													T	6387538	C	T	6387538	3	4	104	1	0	0	0	0	1	0	0	0	11952	893	31	1	2639	1	PITPNM3	17	6387538	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	944796	6387538	74807672	5558	72172											
KIAA0753	9851	broad.mit.edu	37	chr17	6531586	6531586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggatcatgggtgggtggcGaatttggcacagtaagatct	15	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:6531586G>A	uc002gde.3	-	3	928	c.569C>T	c.(568-570)TCG>TTG	p.S190L	KIAA0753_uc010clo.2_5'UTR|KIAA0753_uc010vte.1_5'UTR	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	190						centrosome					0				COAD - Colon adenocarcinoma(228;0.157)		GGTGGGTGGCGAATTTGGCAC	0.498													A	6531586	G	A	6531586	3	1	104	1	0	0	0	0	1	0	0	0	8191	1059	37	1	2402	1	KIAA0753	17	6531586	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	144048	6531586	74663624	5559	72173											
XAF1	54739	broad.mit.edu	37	chr17	6661423	6661423	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtagtaaaagacatgtagtCtctgccaacttcaccctcca	6	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:6661423C>T	uc002gdn.2	+	2	290	c.48C>T	c.(46-48)GTC>GTT	p.V16V	XAF1_uc010clr.1_Silent_p.V16V|XAF1_uc002gdm.1_5'UTR|XAF1_uc002gdo.2_Silent_p.V16V|XAF1_uc002gdp.2_5'UTR|XAF1_uc002gdq.2_5'UTR|XAF1_uc002gdr.2_5'UTR	NM_017523	NP_059993	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1 isoform 1	16					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding				0						GACATGTAGTCTCTGCCAACT	0.478													T	6661423	C	T	6661423	2	4	104	1	0	0	0	0	0	0	0	1	17416	900	32	4		4	XAF1	17	6661423	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	129837	6661423	74533787	5560	72174											
POLR2A	5430	broad.mit.edu	37	chr17	7414556	7414556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaggtggtggacaagaTggatgatgatgtcttcctgc	16	5	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:7414556T>C	uc002ghf.3	+	23	4070	c.3836T>C	c.(3835-3837)ATG>ACG	p.M1279T		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	1279					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)				GTGGACAAGATGGATGATGAT	0.557													C	7414556	T	C	7414556	3	2	104	1	0	0	0	0	1	0	0	0	12214	1464	51	3	3926	3	POLR2A	17	7414556	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	753133	7414556	73780654	5561	72175											
POLR2A	5430	broad.mit.edu	37	chr17	7415517	7415517	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccgcacacggtgagagtgAccccatgaagggggtctctg	15	11	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:7415517A>G	uc002ghf.3	+	26	4580	c.4346A>G	c.(4345-4347)GAC>GGC	p.D1449G		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	1449				D -> Y (in Ref. 2; CAA52862).	mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)				GGTGAGAGTGACCCCATGAAG	0.592													G	7415517	A	G	7415517	3	3	104	1	0	0	0	0	1	0	0	0	12214	275	10	3	4448	3	POLR2A	17	7415517	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	961	7415517	73779693	5562	72176											
EIF4A1	1973	broad.mit.edu	37	chr17	7480012	7480012	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttaaccggagatacctgtgTgagtaattcggttctccaat	9	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:7480012T>C	uc002gho.1	+	13	1839	c.514_splice	c.e13+2	p.S172_splice	EIF4A1_uc002ghr.1_Splice_Site_p.S172_splice|EIF4A1_uc002ghq.1_Splice_Site_p.S172_splice|EIF4A1_uc002ghp.1_Splice_Site_p.S172_splice|SNORD10_uc002ght.2_5'Flank|SNORA67_uc010cml.1_5'Flank|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A						nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			ovary(1)	1						GATACCTGTGTGAGTAATTCG	0.522													C	7480012	T	C	7480012	5	2	104	1	0	0	0	0	0	0	1	0	5024	1710	59	3	534	3	EIF4A1	17	7480012	Splice_Site	SNP	T	TCGA-BR-8680-01A-11D-2394-08	64495	7480012	73715198	5563	72177											
ATP1B2	482	broad.mit.edu	37	chr17	7557412	7557412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaagaatgatgtctgccGccctggacgctattacgaac	9	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:7557412G>A	uc002gif.1	+	4	972	c.389G>A	c.(388-390)CGC>CAC	p.R130H		NM_001678	NP_001669	P14415	AT1B2_HUMAN	Na+/K+ -ATPase beta 2 subunit	130	Extracellular (Potential).				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|pancreas(1)	2		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		GATGTCTGCCGCCCTGGACGC	0.547													A	7557412	G	A	7557412	3	1	104	1	0	0	0	0	1	0	0	0	1133	1087	38	1	403	1	ATP1B2	17	7557412	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	77400	7557412	73637798	5564	72178											
WRAP53	55135	broad.mit.edu	37	chr17	7604072	7604072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtataggtccctgtccttcGaatggtggaaggtgatacca	12	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:7604072G>A	uc010vuh.1	+	5	811	c.656G>A	c.(655-657)CGA>CAA	p.R219Q	WRAP53_uc010vui.1_Missense_Mutation_p.R219Q|WRAP53_uc002gip.2_Missense_Mutation_p.R219Q|WRAP53_uc002gir.2_Missense_Mutation_p.R219Q|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Missense_Mutation_p.R186Q|WRAP53_uc010vuj.1_5'UTR	NM_001143990	NP_001137462	Q9BUR4	WAP53_HUMAN	WD repeat domain 79 isoform 2	219					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding				0						CCTGTCCTTCGAATGGTGGAA	0.537													A	7604072	G	A	7604072	3	1	104	1	0	0	0	0	1	0	0	0	17397	1058	37	1	670	1	WRAP53	17	7604072	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	46660	7604072	73591138	5565	72179											
DNAH2	146754	broad.mit.edu	37	chr17	7660464	7660464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagcggctgctgtttgagAcgccccattacgtggtgaac	15	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:7660464A>G	uc002giu.1	+	12	1974	c.1960A>G	c.(1960-1962)ACG>GCG	p.T654A		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	654	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCTGTTTGAGACGCCCCATTA	0.552													G	7660464	A	G	7660464	3	3	104	1	0	0	0	0	1	0	0	0	4602	275	10	3	2006	3	DNAH2	17	7660464	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	56392	7660464	73534746	5566	72180											
DNAH2	146754	broad.mit.edu	37	chr17	7662770	7662770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtggatgctgtacatgattCggctggaccgcatgatggag	15	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:7662770C>T	uc002giu.1	+	15	2493	c.2479C>T	c.(2479-2481)CGG>TGG	p.R827W		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	827	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTACATGATTCGGCTGGACCG	0.522													T	7662770	C	T	7662770	3	4	104	1	0	0	0	0	1	0	0	0	4602	875	31	1	2537	1	DNAH2	17	7662770	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2306	7662770	73532440	5567	72181											
CHD3	1107	broad.mit.edu	37	chr17	7809005	7809005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgcctccactgctggcccGagtcgggggcaacattgagg	14	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:7809005G>A	uc002gje.2	+	27	4355	c.4205G>A	c.(4204-4206)CGA>CAA	p.R1402Q	CHD3_uc002gjd.2_Missense_Mutation_p.R1461Q|CHD3_uc002gjf.2_Missense_Mutation_p.R1402Q|CHD3_uc002gjh.2_5'UTR|SCARNA21_uc002gji.1_5'Flank	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1402					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				CTGCTGGCCCGAGTCGGGGGC	0.577													A	7809005	G	A	7809005	3	1	104	1	0	0	0	0	1	0	0	0	3326	1058	37	1	4592	1	CHD3	17	7809005	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	146235	7809005	73386205	5568	72182											
ALOX15B	247	broad.mit.edu	37	chr17	7950271	7950271	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgagttgatacagaggaAcatgaagcagctgaactatt	10	7	1	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:7950271A>G	uc002gju.2	+	10	1450	c.1334A>G	c.(1333-1335)AAC>AGC	p.N445S	ALOX15B_uc002gjv.2_Missense_Mutation_p.N416S|ALOX15B_uc002gjw.2_Missense_Mutation_p.N416S|ALOX15B_uc010vun.1_Missense_Mutation_p.N445S|ALOX15B_uc010cnp.2_Missense_Mutation_p.N251S	NM_001141	NP_001132	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, second type	445	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			ovary(1)	1						ATACAGAGGAACATGAAGCAG	0.522													G	7950271	A	G	7950271	3	3	104	1	0	0	0	0	1	0	0	0	539	43	2	3	1372	3	ALOX15B	17	7950271	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	141266	7950271	73244939	5569	72183											
ALOX12B	242	broad.mit.edu	37	chr17	7980465	7980465	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagccagtcccactcagaaTcactgggcaggaagatgggg	14	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:7980465T>C	uc002gjy.1	-	9	1379	c.1118A>G	c.(1117-1119)GAT>GGT	p.D373G	uc010cnq.1_5'Flank	NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	373	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0						CCACTCAGAATCACTGGGCAG	0.582										Multiple Myeloma(8;0.094)			C	7980465	T	C	7980465	3	2	104	1	0	0	0	0	1	0	0	0	537	1435	50	3	1015	3	ALOX12B	17	7980465	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	30194	7980465	73214745	5570	72184											
ALOXE3	59344	broad.mit.edu	37	chr17	8021304	8021304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacacacaggcggtacactGccatgatgggaaggaggaag	14	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:8021304G>A	uc010cnr.2	-	2	375	c.5C>T	c.(4-6)GCA>GTA	p.A2V	ALOXE3_uc002gka.2_Missense_Mutation_p.A158V|ALOXE3_uc010vuo.1_Missense_Mutation_p.A134V|ALOXE3_uc010vup.1_RNA	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3 isoform 2	2	PLAT.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			skin(3)|lung(1)|central_nervous_system(1)	5						GCGGTACACTGCCATGATGGG	0.647													A	8021304	G	A	8021304	3	1	104	1	0	0	0	0	1	0	0	0	542	1319	46	2	2190	2	ALOXE3	17	8021304	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	40839	8021304	73173906	5571	72185											
HES7	84667	broad.mit.edu	37	chr17	8026394	8026394	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcagcctcagctcttccagGctgcggttgatgcggtcccg	13	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:8026394G>C	uc002gkc.2	-	2	93	c.93C>G	c.(91-93)AGC>AGG	p.S31R	HES7_uc002gkb.1_Missense_Mutation_p.S31R	NM_032580	NP_115969	Q9BYE0	HES7_HUMAN	hairy and enhancer of split 7 isoform 2	31	Helix-loop-helix motif.				mesoderm development|transcription, DNA-dependent	nucleus	DNA binding				0						GCTCTTCCAGGCTGCGGTTGA	0.667													C	8026394	G	C	8026394	3	2	104	1	0	0	0	0	1	0	0	0	7071	1194	42	5	611	5	HES7	17	8026394	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5090	8026394	73168816	5572	72186											
PER1	5187	broad.mit.edu	37	chr17	8053326	8053326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccagtgcgtactgcagCgtggccagggtcccagagcg	16	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:8053326C>T	uc002gkd.2	-	4	730	c.492G>A	c.(490-492)ACG>ACA	p.T164T	PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Silent_p.T148T|PER1_uc010vus.1_Silent_p.T164T	NM_002616	NP_002607	O15534	PER1_HUMAN	period 1	164					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						CGTACTGCAGCGTGGCCAGGG	0.642			T	ETV6	AML|CMML			Other_conserved_DNA_damage_response_genes					T	8053326	C	T	8053326	2	4	104	1	0	0	0	0	0	0	0	1	11729	755	27	1		1	PER1	17	8053326	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	26932	8053326	73141884	5573	72187											
C17orf68	80169	broad.mit.edu	37	chr17	8139580	8139580	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatgctggcgctgaccacgGatcttggacactcgcagttc	11	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:8139580G>A	uc002gkq.3	-	6	932	c.873C>T	c.(871-873)ATC>ATT	p.I291I	C17orf68_uc010cnv.2_RNA	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	alpha accessory factor 132	291					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding				0						GCTGACCACGGATCTTGGACA	0.587													A	8139580	G	A	8139580	2	1	104	1	0	0	0	0	0	0	0	1	1876	1164	41	4		4	C17orf68	17	8139580	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	86254	8139580	73055630	5574	72188											
MYH10	4628	broad.mit.edu	37	chr17	8409702	8409702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgagctcatcaatctgcGcctgcagctctgcgatctgg	11	13	5	1	rs150206681	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:8409702G>A	uc002gll.2	-	25	3323	c.3227C>T	c.(3226-3228)GCG>GTG	p.A1076V	MYH10_uc002glm.2_Missense_Mutation_p.A1107V|MYH10_uc010cnx.2_Missense_Mutation_p.A1085V	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1076	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						ATCAATCTGCGCCTGCAGCTC	0.592													A	8409702	G	A	8409702	3	1	104	1	0	0	0	0	1	0	0	0	10030	1087	38	1	2771	1	MYH10	17	8409702	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	270122	8409702	72785508	5575	72189											
CCDC42	146849	broad.mit.edu	37	chr17	8644901	8644901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccaccatctcctgcttgCgcttggtcagctcctgcatg	10	16	2	0	rs142451736		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:8644901C>T	uc002gln.2	-	4	610	c.383G>A	c.(382-384)CGC>CAC	p.R128H	CCDC42_uc002glo.2_Missense_Mutation_p.R128H	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42 isoform 1	128	Potential.									ovary(1)	1						CTCCTGCTTGCGCTTGGTCAG	0.592													T	8644901	C	T	8644901	3	4	104	1	0	0	0	0	1	0	0	0	2814	768	27	1	583	1	CCDC42	17	8644901	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	235199	8644901	72550309	5576	72190											
MFSD6L	162387	broad.mit.edu	37	chr17	8701241	8701241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgagaaacccatgaccagctCgccgctcccatggtccttca	8	17	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:8701241C>T	uc002glp.1	-	1	1346	c.1198G>A	c.(1198-1200)GAG>AAG	p.E400K		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing	400	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1						ATGACCAGCTCGCCGCTCCCA	0.547													T	8701241	C	T	8701241	3	4	104	1	0	0	0	0	1	0	0	0	9536	893	31	1	566	1	MFSD6L	17	8701241	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	56340	8701241	72493969	5577	72191											
NTN1	9423	broad.mit.edu	37	chr17	9066163	9066163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcatgcccggcgctgccGcttcaacatggagctctaca	10	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:9066163G>A	uc002glw.3	+	3	1159	c.1052G>A	c.(1051-1053)CGC>CAC	p.R351H		NM_004822	NP_004813	O95631	NET1_HUMAN	netrin 1 precursor	351	Laminin EGF-like 2.		R -> H (in a neuroblastoma sample).		apoptosis|axon guidance		protein binding				0						CGGCGCTGCCGCTTCAACATG	0.647													A	9066163	G	A	9066163	3	1	104	1	0	0	0	0	1	0	0	0	10700	1087	38	1	1058	1	NTN1	17	9066163	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	364922	9066163	72129047	5578	72192											
STX8	9482	broad.mit.edu	37	chr17	9471774	9471774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcaatttgacaagtagaatCgtatgtggagaacctgcacc	11	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:9471774C>T	uc002glx.2	-	2	181	c.31G>A	c.(31-33)GAT>AAT	p.D11N		NM_004853	NP_004844	Q9UNK0	STX8_HUMAN	syntaxin 8	11	Cytoplasmic (Potential).				transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)	1						CAAGTAGAATCGTATGTGGAG	0.269													T	9471774	C	T	9471774	3	4	104	1	0	0	0	0	1	0	0	0	15350	884	31	1	707	1	STX8	17	9471774	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	405611	9471774	71723436	5579	72193											
WDR16	146845	broad.mit.edu	37	chr17	9536289	9536289	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgctcacaggatcggcgTcaccgccatcgccaccacca	8	18	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:9536289T>C	uc002gly.2	+	10	1328	c.1259T>C	c.(1258-1260)GTC>GCC	p.V420A	WDR16_uc002glz.2_Missense_Mutation_p.V352A|WDR16_uc010coc.2_Missense_Mutation_p.V430A	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN	WD40-repeat protein upregulated in HCC isoform	420	WD 7.					cytoplasm|intracellular membrane-bounded organelle	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						AGGATCGGCGTCACCGCCATC	0.507													C	9536289	T	C	9536289	3	2	104	1	0	0	0	0	1	0	0	0	17273	1667	58	3	1297	3	WDR16	17	9536289	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	64515	9536289	71658921	5580	72194											
GAS7	8522	broad.mit.edu	37	chr17	9830036	9830036	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgcacttcttcatgtctttCttgaagttctcacggaagtt	7	10	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:9830036C>A	uc002gmg.1	-	10	1097	c.936G>T	c.(934-936)AAG>AAT	p.K312N	GAS7_uc010vvc.1_Missense_Mutation_p.K126N|GAS7_uc002gmh.1_Missense_Mutation_p.K172N|GAS7_uc010vvd.1_Missense_Mutation_p.K264N|GAS7_uc002gmi.2_Missense_Mutation_p.K248N|GAS7_uc002gmj.1_Missense_Mutation_p.K252N|GAS7_uc010coh.1_Missense_Mutation_p.K252N	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	312	Potential.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2						TCATGTCTTTCTTGAAGTTCT	0.577			T	MLL	AML*								A	9830036	C	A	9830036	3	1	104	1	0	0	0	0	1	0	0	0	6250	912	32	5	514	5	GAS7	17	9830036	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	293747	9830036	71365174	5581	72195											
MYH13	8735	broad.mit.edu	37	chr17	10210275	10210275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccgtgatggccttcttgGccttctcctctgcgttcctg	9	15	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:10210275G>A	uc002gmk.1	-	36	5366	c.5276C>T	c.(5275-5277)GCC>GTC	p.A1759V		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1759	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GGCCTTCTTGGCCTTCTCCTC	0.473													A	10210275	G	A	10210275	3	1	104	1	0	0	0	0	1	0	0	0	10032	1203	42	2	564	2	MYH13	17	10210275	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	380239	10210275	70984935	5582	72196											
MYH13	8735	broad.mit.edu	37	chr17	10227375	10227375	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcttctccttttcaactttCgtcaaggtcagctccaggtc	7	13	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:10227375C>T	uc002gmk.1	-	23	2988	c.2898G>A	c.(2896-2898)ACG>ACA	p.T966T	MYH13_uc010vve.1_Silent_p.T64T	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	966	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TTTCAACTTTCGTCAAGGTCA	0.463													T	10227375	C	T	10227375	2	4	104	1	0	0	0	0	0	0	0	1	10032	871	31	1		1	MYH13	17	10227375	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	17100	10227375	70967835	5583	72197											
MYH8	4626	broad.mit.edu	37	chr17	10297697	10297697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcaggttggctctgcGctccacaattgccagctgtt	11	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:10297697G>A	uc002gmm.2	-	35	5130	c.5035C>T	c.(5035-5037)CGC>TGC	p.R1679C	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1679	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						TTGGCTCTGCGCTCCACAATT	0.557									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				A	10297697	G	A	10297697	3	1	104	1	0	0	0	0	1	0	0	0	10041	1087	38	1	802	1	MYH8	17	10297697	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	70322	10297697	70897513	5584	72198											
MYH8	4626	broad.mit.edu	37	chr17	10312471	10312471	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttttcttagcacctttcttCgcgctgctatctgaggtaaa	7	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:10312471C>T	uc002gmm.2	-	17	2003	c.1908G>A	c.(1906-1908)GCG>GCA	p.A636A	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	636	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						CACCTTTCTTCGCGCTGCTAT	0.348									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				T	10312471	C	T	10312471	2	4	104	1	0	0	0	0	0	0	0	1	10041	871	31	1		1	MYH8	17	10312471	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	14774	10312471	70882739	5585	72199											
MYH4	4622	broad.mit.edu	37	chr17	10357945	10357945	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcttctagttctttccttTttgcctctgtcttagccagc	5	12	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:10357945T>G	uc002gmn.2	-	22	2729	c.2618A>C	c.(2617-2619)AAA>ACA	p.K873T	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	873	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						TTCTTTCCTTTTTGCCTCTGT	0.418													G	10357945	T	G	10357945	3	3	104	1	0	0	0	0	1	0	0	0	10037	1841	64	5	3277	5	MYH4	17	10357945	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	45474	10357945	70837265	5586	72200											
MYH1	4619	broad.mit.edu	37	chr17	10402034	10402034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgttggccttggacattgCtctctgtagctcggccttgg	12	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:10402034C>T	uc002gmo.2	-	30	4184	c.4090G>A	c.(4090-4092)GCA>ACA	p.A1364T	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1364	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						TTGGACATTGCTCTCTGTAGC	0.587													T	10402034	C	T	10402034	3	4	104	1	0	0	0	0	1	0	0	0	10029	797	28	2	1773	2	MYH1	17	10402034	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	44089	10402034	70793176	5587	72201											
MYH1	4619	broad.mit.edu	37	chr17	10405120	10405120	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagttgttgtttgtcattttCtatatccattgtggattctt	7	5	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:10405120C>A	uc002gmo.2	-	25	3314	c.3220G>T	c.(3220-3222)GAA>TAA	p.E1074*	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1074	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						TTGTCATTTTCTATATCCATT	0.343													A	10405120	C	A	10405120	4	1	104	1	0	0	0	0	0	1	0	0	10029	922	32	5	2663	5	MYH1	17	10405120	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3086	10405120	70790090	5588	72202											
MYH2	4620	broad.mit.edu	37	chr17	10428901	10428901	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaagctcagcatgcgtTtcctcacatttctgtttcca	6	14	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:10428901T>G	uc010coi.2	-	32	4532	c.4404A>C	c.(4402-4404)GAA>GAC	p.E1468D	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1468D|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1468	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						CAGCATGCGTTTCCTCACATT	0.473													G	10428901	T	G	10428901	3	3	104	1	0	0	0	0	1	0	0	0	10035	1838	64	5	1457	5	MYH2	17	10428901	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	23781	10428901	70766309	5589	72203											
MYH2	4620	broad.mit.edu	37	chr17	10429120	10429120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagccgctgcttcgtcttttCgagggaagcacatttggcgt	12	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:10429120C>T	uc010coi.2	-	31	4389	c.4261G>A	c.(4261-4263)GAA>AAA	p.E1421K	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1421K|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1421	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						TTCGTCTTTTCGAGGGAAGCA	0.512													T	10429120	C	T	10429120	3	4	104	1	0	0	0	0	1	0	0	0	10035	893	31	1	1604	1	MYH2	17	10429120	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	219	10429120	70766090	5590	72204											
MYH2	4620	broad.mit.edu	37	chr17	10447032	10447032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccaagagacttacaaagCgagaggagttgtcattcctc	10	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:10447032C>T	uc010coi.2	-	8	865	c.737G>A	c.(736-738)CGC>CAC	p.R246H	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R246H|MYH2_uc010coj.2_Missense_Mutation_p.R246H	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	246	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						ACTTACAAAGCGAGAGGAGTT	0.443													T	10447032	C	T	10447032	3	4	104	1	0	0	0	0	1	0	0	0	10035	768	27	1	5220	1	MYH2	17	10447032	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	17912	10447032	70748178	5591	72205											
MYH2	4620	broad.mit.edu	37	chr17	10447416	10447416	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagcataaaatctacttaCgtgatcaggattgactgatt	8	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:10447416C>T	uc010coi.2	-	6	661	c.533_splice	c.e6+1	p.T178_splice	uc002gml.1_Intron|MYH2_uc002gmp.3_Splice_Site_p.T178_splice|MYH2_uc010coj.2_Splice_Site_p.T178_splice	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa						muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						AATCTACTTACGTGATCAGGA	0.343													T	10447416	C	T	10447416	5	4	104	1	0	0	0	0	0	0	1	0	10035	550	19	1	5431	1	MYH2	17	10447416	Splice_Site	SNP	C	TCGA-BR-8680-01A-11D-2394-08	384	10447416	70747794	5592	72206											
MYH3	4621	broad.mit.edu	37	chr17	10541674	10541674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccagctcccgggcatagtCgctgcgctgtttctctgtct	10	15	2	0	rs138631084		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:10541674C>T	uc002gmq.1	-	26	3492	c.3415G>A	c.(3415-3417)GAC>AAC	p.D1139N		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1139	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						CGGGCATAGTCGCTGCGCTGT	0.647													T	10541674	C	T	10541674	3	4	104	1	0	0	0	0	1	0	0	0	10036	884	31	1	2467	1	MYH3	17	10541674	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	94258	10541674	70653536	5593	72207											
MYH3	4621	broad.mit.edu	37	chr17	10549159	10549159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcccaggatgtcaatggCgctctggcatggaaagggca	15	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:10549159C>T	uc002gmq.1	-	11	1083	c.1006G>A	c.(1006-1008)GCC>ACC	p.A336T		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	336	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						ATGTCAATGGCGCTCTGGCAT	0.557											OREG0024181	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	10549159	C	T	10549159	3	4	104	1	0	0	0	0	1	0	0	0	10036	768	27	1	4936	1	MYH3	17	10549159	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7485	10549159	70646051	5594	72208											
MYH3	4621	broad.mit.edu	37	chr17	10550506	10550506	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacttcctcacctatgagCtcaggcttcttgttagaaag	9	10	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:10550506C>T	uc002gmq.1	-	9	968	c.891G>A	c.(889-891)GAG>GAA	p.E297E		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	297	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						CACCTATGAGCTCAGGCTTCT	0.448													T	10550506	C	T	10550506	2	4	104	1	0	0	0	0	0	0	0	1	10036	796	28	2		2	MYH3	17	10550506	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1347	10550506	70644704	5595	72209											
DNAH9	1770	broad.mit.edu	37	chr17	11622691	11622691	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtccctgcacctgaccatgAgtggggctcccgcaggacct	12	15	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:11622691A>G	uc002gne.2	+	27	5661	c.5593A>G	c.(5593-5595)AGT>GGT	p.S1865G	DNAH9_uc010coo.2_Missense_Mutation_p.S1159G	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1865	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTGACCATGAGTGGGGCTCC	0.607													G	11622691	A	G	11622691	3	3	104	1	0	0	0	0	1	0	0	0	4608	304	11	3	5699	3	DNAH9	17	11622691	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1072185	11622691	69572519	5596	72210											
DNAH9	1770	broad.mit.edu	37	chr17	11660968	11660968	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccaacttaaccattttgttCgacaagtatcttccaacctg	5	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:11660968C>T	uc002gne.2	+	35	7022	c.6954C>T	c.(6952-6954)TTC>TTT	p.F2318F	DNAH9_uc010coo.2_Silent_p.F1612F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2318	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCATTTTGTTCGACAAGTATC	0.473													T	11660968	C	T	11660968	2	4	104	1	0	0	0	0	0	0	0	1	4608	883	31	1		1	DNAH9	17	11660968	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	38277	11660968	69534242	5597	72211											
DNAH9	1770	broad.mit.edu	37	chr17	11806042	11806042	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaatttcccaggtacttTcatcaatggaagaattctct	6	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:11806042T>G	uc002gne.2	+	60	11481	c.11413T>G	c.(11413-11415)TCA>GCA	p.S3805A	DNAH9_uc010coo.2_Missense_Mutation_p.S3099A|DNAH9_uc002gnf.2_Missense_Mutation_p.S117A|DNAH9_uc010vvh.1_Missense_Mutation_p.S158A	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3805					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCAGGTACTTTCATCAATGGA	0.438													G	11806042	T	G	11806042	3	3	104	1	0	0	0	0	1	0	0	0	4608	1783	62	5	11651	5	DNAH9	17	11806042	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	145074	11806042	69389168	5598	72212											
DNAH9	1770	broad.mit.edu	37	chr17	11837235	11837235	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgctacctgtttggagagatCatgtatggaggccatatcac	11	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:11837235C>T	uc002gne.2	+	65	12404	c.12336C>T	c.(12334-12336)ATC>ATT	p.I4112I	DNAH9_uc010coo.2_Silent_p.I3330I|DNAH9_uc002gnf.2_Silent_p.I424I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	4112					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGGAGAGATCATGTATGGAG	0.498													T	11837235	C	T	11837235	2	4	104	1	0	0	0	0	0	0	0	1	4608	816	29	4		4	DNAH9	17	11837235	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	31193	11837235	69357975	5599	72213											
DNAH9	1770	broad.mit.edu	37	chr17	11840674	11840674	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccttgattttcagtacatCgatgctgagctgcccccaga	9	13	1	3	rs143953217	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:11840674C>T	uc002gne.2	+	66	12563	c.12495C>T	c.(12493-12495)ATC>ATT	p.I4165I	DNAH9_uc010coo.2_Silent_p.I3383I|DNAH9_uc002gnf.2_Silent_p.I477I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	4165					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTCAGTACATCGATGCTGAGC	0.547													T	11840674	C	T	11840674	2	4	104	1	0	0	0	0	0	0	0	1	4608	874	31	1		1	DNAH9	17	11840674	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3439	11840674	69354536	5600	72214											
ZNF18	7566	broad.mit.edu	37	chr17	11881837	11881837	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgtttctcagaaatcctttCttgaggagacagctgttccc	8	10	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:11881837C>A	uc002gng.1	-	9	1692	c.1087G>T	c.(1087-1089)GAA>TAA	p.E363*	ZNF18_uc002gnh.1_Nonsense_Mutation_p.E363*|ZNF18_uc002gni.1_Nonsense_Mutation_p.E362*	NM_144680	NP_653281	P17022	ZNF18_HUMAN	zinc finger protein 18	363					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)	1				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		GAAATCCTTTCTTGAGGAGAC	0.488													A	11881837	C	A	11881837	4	1	104	1	0	0	0	0	0	1	0	0	17744	922	32	5	566	5	ZNF18	17	11881837	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	41163	11881837	69313373	5601	72215											
CDRT1	374286	broad.mit.edu	37	chr17	15522795	15522795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcacaacgaaaataggggGcattcttgagccttgattcc	9	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:15522795G>A	uc002gov.3	-	1	224	c.32C>T	c.(31-33)GCC>GTC	p.A11V	TRIM16_uc002gor.1_Intron	NM_006382	NP_006373	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	11											0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		AAAATAGGGGGCATTCTTGAG	0.493													A	15522795	G	A	15522795	3	1	104	1	0	0	0	0	1	0	0	0	3174	1203	42	2	2274	2	CDRT1	17	15522795	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3640958	15522795	65672415	5602	72216											
TTC19	54902	broad.mit.edu	37	chr17	15928385	15928385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtgcttagacgcctgtgCtcgctaccttctgttctcca	8	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:15928385C>T	uc002gph.1	+	8	1112	c.1094C>T	c.(1093-1095)GCT>GTT	p.A365V	TTC19_uc010cox.1_RNA|TTC19_uc002gpk.3_Missense_Mutation_p.A7V|TTC19_uc002gpj.2_Missense_Mutation_p.A7V	NM_017775	NP_060245	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	244	TPR 3.				cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GACGCCTGTGCTCGCTACCTT	0.468													T	15928385	C	T	15928385	3	4	104	1	0	0	0	0	1	0	0	0	16683	797	28	2	1124	2	TTC19	17	15928385	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	405590	15928385	65266825	5603	72217											
NCOR1	9611	broad.mit.edu	37	chr17	15971356	15971356	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accccaggcactggagacttCgctgggatactttccctctg	10	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:15971356C>T	uc002gpo.2	-	32	4833	c.4593G>A	c.(4591-4593)GCG>GCA	p.A1531A	NCOR1_uc002gpn.2_Silent_p.A1547A|NCOR1_uc002gpm.2_Silent_p.A52A|NCOR1_uc010vwb.1_Silent_p.A115A|NCOR1_uc010coy.2_Silent_p.A439A|NCOR1_uc010vwc.1_Silent_p.A342A	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1531	Interaction with ETO.|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTGGAGACTTCGCTGGGATAC	0.522													T	15971356	C	T	15971356	2	4	104	1	0	0	0	0	0	0	0	1	10235	871	31	1		1	NCOR1	17	15971356	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	42971	15971356	65223854	5604	72218											
NCOR1	9611	broad.mit.edu	37	chr17	16041478	16041478	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaccatgtcttaccttcctCtccaagtatgatgcaattag	5	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:16041478C>T	uc002gpo.2	-	13	1641	c.1401G>A	c.(1399-1401)GAG>GAA	p.E467E	NCOR1_uc002gpn.2_Silent_p.E467E|NCOR1_uc002gpp.1_Silent_p.E358E|NCOR1_uc002gpr.2_Silent_p.E358E|NCOR1_uc002gps.1_Silent_p.E476E|NCOR1_uc010coz.1_Silent_p.E283E|NCOR1_uc010cpb.1_Silent_p.E476E|NCOR1_uc010cpa.1_Silent_p.E467E	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	467	SANT 1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTACCTTCCTCTCCAAGTATG	0.358													T	16041478	C	T	16041478	2	4	104	1	0	0	0	0	0	0	0	1	10235	912	32	4		4	NCOR1	17	16041478	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	70122	16041478	65153732	5605	72219											
TRPV2	51393	broad.mit.edu	37	chr17	16327012	16327012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctctgccctaccgtgcaGcttgaggacatccgcaacct	9	17	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:16327012G>A	uc002gpy.2	+	5	1222	c.855G>A	c.(853-855)CAG>CAA	p.Q285Q	TRPV2_uc002gpz.2_Intron	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	285	Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 5.				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTACCGTGCAGCTTGAGGACA	0.602													A	16327012	G	A	16327012	2	1	104	1	0	0	0	0	0	0	0	1	16593	962	34	2		2	TRPV2	17	16327012	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	285534	16327012	64868198	5606	72220											
ZNF287	57336	broad.mit.edu	37	chr17	16455532	16455532	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaagggtttttctccattatGaatcctctgatgttgagtaa	8	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:16455532G>T	uc002gqi.2	-	6	2377	c.1924C>A	c.(1924-1926)CAT>AAT	p.H642N		NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	zinc finger protein 287	635	C2H2-type 10.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TCTCCATTATGAATCCTCTGA	0.393													T	16455532	G	T	16455532	3	4	104	1	0	0	0	0	1	0	0	0	17822	1290	45	5	365	5	ZNF287	17	16455532	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	128520	16455532	64739678	5607	72221											
ZNF287	57336	broad.mit.edu	37	chr17	16467135	16467135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacatctttgaatgtcatcGattcctaaaatatcaaatgt	4	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:16467135G>A	uc002gqi.2	-	4	959	c.506C>T	c.(505-507)TCG>TTG	p.S169L		NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	zinc finger protein 287	162					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GAATGTCATCGATTCCTAAAA	0.413													A	16467135	G	A	16467135	3	1	104	1	0	0	0	0	1	0	0	0	17822	1059	37	1	1791	1	ZNF287	17	16467135	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	11603	16467135	64728075	5608	72222											
ZNF624	57547	broad.mit.edu	37	chr17	16525654	16525654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgatgtacagtaaggctcGaactactcctgaaggctttt	9	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:16525654G>A	uc010cpi.1	-	6	2629	c.2546C>T	c.(2545-2547)TCG>TTG	p.S849L		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	849	C2H2-type 21.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGTAAGGCTCGAACTACTCCT	0.363													A	16525654	G	A	16525654	3	1	104	1	0	0	0	0	1	0	0	0	18045	1059	37	1	55	1	ZNF624	17	16525654	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	58519	16525654	64669556	5609	72223											
RASD1	51655	broad.mit.edu	37	chr17	17398896	17398896	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacgttctccttggttttgTtcttgaggcaagacttggtg	11	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:17398896T>C	uc002gri.2	-	2	601	c.389A>G	c.(388-390)AAC>AGC	p.N130S		NM_016084	NP_057168	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1 precursor	130					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity				0						CTTGGTTTTGTTCTTGAGGCA	0.592													C	17398896	T	C	17398896	3	2	104	1	0	0	0	0	1	0	0	0	13066	1725	60	3	460	3	RASD1	17	17398896	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	873242	17398896	63796314	5610	72224											
DRG2	1819	broad.mit.edu	37	chr17	18003967	18003967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtgcagctcatcctgcacGaatacagtatccttccctga	8	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:18003967G>A	uc002gsh.1	+	7	680	c.625G>A	c.(625-627)GAA>AAA	p.E209K	DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.E209K	NM_001388	NP_001379	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	209					signal transduction		GTP binding			ovary(1)	1	all_neural(463;0.228)					CATCCTGCACGAATACAGTAT	0.567													A	18003967	G	A	18003967	3	1	104	1	0	0	0	0	1	0	0	0	4762	1059	37	1	651	1	DRG2	17	18003967	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	605071	18003967	63191243	5611	72225											
MYO15A	51168	broad.mit.edu	37	chr17	18027810	18027810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacagatgcactccatccGcaacctgccatccatgcggt	7	17	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:18027810G>A	uc010vxh.1	+	3	3961	c.3623G>A	c.(3622-3624)CGC>CAC	p.R1208H		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1208	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CACTCCATCCGCAACCTGCCA	0.642													A	18027810	G	A	18027810	3	1	104	1	0	0	0	0	1	0	0	0	10063	1087	38	1	3629	1	MYO15A	17	18027810	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	23843	18027810	63167400	5612	72226											
MYO15A	51168	broad.mit.edu	37	chr17	18036584	18036584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagcgatgcagatgactttCgccggctcctggctgccatg	13	12	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:18036584C>T	uc010vxh.1	+	11	4704	c.4366C>T	c.(4366-4368)CGC>TGC	p.R1456C		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1456	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					AGATGACTTTCGCCGGCTCCT	0.617													T	18036584	C	T	18036584	3	4	104	1	0	0	0	0	1	0	0	0	10063	884	31	1	4404	1	MYO15A	17	18036584	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	8774	18036584	63158626	5613	72227											
FBXW10	10517	broad.mit.edu	37	chr17	18653227	18653227	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccatccacctctccaagtAcattctaagtatgctggggt	8	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:18653227A>G	uc002guk.2	+	3	1095	c.863A>G	c.(862-864)TAC>TGC	p.Y288C	FBXW10_uc002guj.2_Missense_Mutation_p.Y288C|FBXW10_uc002gul.2_Missense_Mutation_p.Y288C|FBXW10_uc010cqh.1_Missense_Mutation_p.Y288C	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	F-box and WD-40 domain protein 10	288	F-box.									ovary(1)	1						CTCTCCAAGTACATTCTAAGT	0.493													G	18653227	A	G	18653227	3	3	104	1	0	0	0	0	1	0	0	0	5763	391	14	3	873	3	FBXW10	17	18653227	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	616643	18653227	62541983	5614	72228											
FBXW10	10517	broad.mit.edu	37	chr17	18681858	18681858	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaactgcccagtcacccaaaGaaaaagtcttggaaaatccc	6	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:18681858G>T	uc002guk.2	+	14	2638	c.2406G>T	c.(2404-2406)AAG>AAT	p.K802N	FBXW10_uc002guj.2_Missense_Mutation_p.K801N|FBXW10_uc002gul.2_Missense_Mutation_p.K811N|FBXW10_uc010cqh.1_Missense_Mutation_p.K749N|FAM18B_uc002gum.2_5'Flank	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	F-box and WD-40 domain protein 10	802										ovary(1)	1						GTCACCCAAAGAAAAAGTCTT	0.418													T	18681858	G	T	18681858	3	4	104	1	0	0	0	0	1	0	0	0	5763	933	33	5	2457	5	FBXW10	17	18681858	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	28631	18681858	62513352	5615	72229											
PRPSAP2	5636	broad.mit.edu	37	chr17	18785924	18785924	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatttacaccagaaggaaatTcagggcttcttcaatattcc	7	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:18785924T>C	uc002gup.1	+	7	667	c.456T>C	c.(454-456)ATT>ATC	p.I152I	PRPSAP2_uc002guo.1_Silent_p.I66I|PRPSAP2_uc010vyi.1_Silent_p.I100I|PRPSAP2_uc010vyj.1_Silent_p.I66I|PRPSAP2_uc010vyk.1_Silent_p.I140I	NM_002767	NP_002758	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate	152					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			skin(1)	1						AGAAGGAAATTCAGGGCTTCT	0.289													C	18785924	T	C	18785924	2	2	104	1	0	0	0	0	0	0	0	1	12582	1771	62	3		3	PRPSAP2	17	18785924	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	104066	18785924	62409286	5616	72230											
SLC5A10	125206	broad.mit.edu	37	chr17	18862465	18862465	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagattggagcctccctcttCgccagcagcgagggctctgg	13	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:18862465C>T	uc002guu.1	+	3	242	c.201C>T	c.(199-201)TTC>TTT	p.F67F	SLC5A10_uc002gur.1_Silent_p.F11F|SLC5A10_uc002gut.1_Silent_p.F67F|SLC5A10_uc002guv.1_Silent_p.F67F|SLC5A10_uc010vyl.1_Silent_p.F67F	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/glucose	67	Cytoplasmic (Potential).				sodium ion transport|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1						CCTCCCTCTTCGCCAGCAGCG	0.627													T	18862465	C	T	18862465	2	4	104	1	0	0	0	0	0	0	0	1	14662	883	31	1		1	SLC5A10	17	18862465	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	76541	18862465	62332745	5617	72231											
EPN2	22905	broad.mit.edu	37	chr17	19186779	19186779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtacattgaccgagatgGcaaggaccagggcatcaatg	12	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:19186779G>A	uc002gvd.3	+	3	795	c.347G>A	c.(346-348)GGC>GAC	p.G116D	EPN2_uc002gvc.2_Missense_Mutation_p.G116D|EPN2_uc010vyn.1_Missense_Mutation_p.G116D|EPN2_uc010cql.1_Intron|EPN2_uc002gve.3_Missense_Mutation_p.G116D|EPN2_uc002gvf.3_Intron|EPN2_uc010vyo.1_Intron|EPN2_uc002gvg.1_Missense_Mutation_p.G116D|EPN2_uc010vyp.1_Missense_Mutation_p.G116D|EPN2_uc010vyq.1_Missense_Mutation_p.G116D|EPN2_uc002gvh.1_Missense_Mutation_p.G116D	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	116	ENTH.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GACCGAGATGGCAAGGACCAG	0.562													A	19186779	G	A	19186779	3	1	104	1	0	0	0	0	1	0	0	0	5186	1203	42	2	349	2	EPN2	17	19186779	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	324314	19186779	62008431	5618	72232											
RNF112	7732	broad.mit.edu	37	chr17	19316718	19316718	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcttgctggggaaagaaggGaagaaggtgaggggggaagt	20	2	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:19316718G>A	uc010vyw.1	+	5	913	c.714G>A	c.(712-714)GGG>GGA	p.G238G	RNF112_uc010vyu.1_3'UTR|RNF112_uc010vyv.1_Silent_p.G238G|RNF112_uc010vyx.1_Silent_p.G121G	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	238							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2						GGAAAGAAGGGAAGAAGGTGA	0.622													A	19316718	G	A	19316718	2	1	104	1	0	0	0	0	0	0	0	1	13426	1161	41	4		4	RNF112	17	19316718	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	129939	19316718	61878492	5619	72233											
SLC47A1	55244	broad.mit.edu	37	chr17	19451350	19451350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgatcctgcagcggagtgCgctcgtcctgctcctctgct	12	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:19451350C>T	uc002gvy.1	+	4	445	c.359C>T	c.(358-360)GCG>GTG	p.A120V	SLC47A1_uc010vyy.1_RNA|SLC47A1_uc002gvx.2_Missense_Mutation_p.A120V|SLC47A1_uc010vyz.1_Missense_Mutation_p.A97V|SLC47A1_uc010cqp.1_Missense_Mutation_p.A120V|SLC47A1_uc010cqq.1_5'UTR	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	solute carrier family 47, member 1	120	Cytoplasmic (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					CAGCGGAGTGCGCTCGTCCTG	0.602													T	19451350	C	T	19451350	3	4	104	1	0	0	0	0	1	0	0	0	14647	768	27	1	373	1	SLC47A1	17	19451350	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	134632	19451350	61743860	5620	72234											
ALDH3A1	218	broad.mit.edu	37	chr17	19641726	19641726	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggcggtgagagaaagtctcGaagctcttcttgccatggta	13	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:19641726G>A	uc010cqu.2	-	9	1587	c.1257C>T	c.(1255-1257)TTC>TTT	p.F419F	ALDH3A1_uc010vzd.1_Silent_p.F419F|ALDH3A1_uc002gwj.2_Silent_p.F419F|ALDH3A1_uc010cqv.2_Silent_p.F418F|ALDH3A1_uc002gwk.2_Silent_p.F536F|ALDH3A1_uc002gwl.1_Silent_p.F346F	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3A1	419					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(1)|pancreas(1)	2	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	AGAAAGTCTCGAAGCTCTTCT	0.612													A	19641726	G	A	19641726	2	1	104	1	0	0	0	0	0	0	0	1	497	1049	37	1		1	ALDH3A1	17	19641726	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	190376	19641726	61553484	5621	72235											
AKAP10	11216	broad.mit.edu	37	chr17	19839708	19839708	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaatcgtacaacatcatcaAatccaagaggatgtgtggct	8	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:19839708A>C	uc002gwo.2	-	9	1495	c.1358T>G	c.(1357-1359)TTT>TGT	p.F453C	AKAP10_uc002gwp.1_Missense_Mutation_p.F453C|AKAP10_uc010cqw.1_Missense_Mutation_p.F453C	NM_007202	NP_009133	O43572	AKA10_HUMAN	A-kinase anchor protein 10 precursor	453	RGS 2.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			skin(1)	1	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					AACATCATCAAATCCAAGAGG	0.433													C	19839708	A	C	19839708	3	2	104	1	0	0	0	0	1	0	0	0	446	14	1	5	658	5	AKAP10	17	19839708	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	197982	19839708	61355502	5622	72236											
LGALS9B	284194	broad.mit.edu	37	chr17	20354903	20354903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagcattctcatcaaaaCgggggttcatgtggaaggcg	12	10	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:20354903C>T	uc002gxa.1	-	10	880	c.815G>A	c.(814-816)CGT>CAT	p.R272H	LGALS9B_uc002gwz.1_Missense_Mutation_p.R271H|LGALS9B_uc010vzh.1_Missense_Mutation_p.R184H	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	galectin-9 like	272	Galectin 2.						sugar binding			skin(1)	1						CTCATCAAAACGGGGGTTCAT	0.572													T	20354903	C	T	20354903	3	4	104	1	0	0	0	0	1	0	0	0	8749	536	19	1	263	1	LGALS9B	17	20354903	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	515195	20354903	60840307	5623	72237											
DHRS7B	25979	broad.mit.edu	37	chr17	21094443	21094443	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggcctccagggccagaaaaGagcggaaatccaagaactcc	11	12	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:21094443G>T	uc002gyo.2	+	7	982	c.955G>T	c.(955-957)GAG>TAG	p.E319*		NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	319	Peroxisomal (Potential).					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			pancreas(1)	1						GGCCAGAAAAGAGCGGAAATC	0.527													T	21094443	G	T	21094443	4	4	104	1	0	0	0	0	0	1	0	0	4496	943	33	5	981	5	DHRS7B	17	21094443	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	739540	21094443	60100767	5624	72238											
TMEM11	8834	broad.mit.edu	37	chr17	21101654	21101654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatcatacggcatagagttCgtaaatcttctttacacagt	6	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:21101654C>T	uc002gyp.2	-	2	1005	c.562G>A	c.(562-564)GAA>AAA	p.E188K	TMEM11_uc002gyq.2_3'UTR	NM_003876	NP_003867	P17152	TMM11_HUMAN	transmembrane protein 11	188					mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding				0						GCATAGAGTTCGTAAATCTTC	0.532													T	21101654	C	T	21101654	3	4	104	1	0	0	0	0	1	0	0	0	16023	893	31	1	20	1	TMEM11	17	21101654	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7211	21101654	60093556	5625	72239											
POLDIP2	26073	broad.mit.edu	37	chr17	26676190	26676190	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttggataacactggttccTgtaaaggtttaggcaaaatg	10	7	0	0	rs113989645		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:26676190T>G	uc002haz.2	-	13	1045	c.913_splice	c.e13-1	p.E305_splice	POLDIP2_uc010wag.1_Splice_Site	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN	DNA polymerase delta interacting protein 2							mitochondrial nucleoid|nucleus					0	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CACTGGTTCCTGTAAAGGTTT	0.552													G	26676190	T	G	26676190	5	3	104	1	0	0	0	0	0	0	1	0	12194	1594	55	5	203	5	POLDIP2	17	26676190	Splice_Site	SNP	T	TCGA-BR-8680-01A-11D-2394-08	5574536	26676190	54519020	5626	72240											
SARM1	23098	broad.mit.edu	37	chr17	26715444	26715444	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagctggaagcaggcaagttCgaggacaaactcatccagag	12	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:26715444C>T	uc010crl.1	+	10	1876	c.1809C>T	c.(1807-1809)TTC>TTT	p.F603F	SARM1_uc010waj.1_RNA|SARM1_uc002hbe.1_Silent_p.F147F	NM_015077	NP_055892	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	603	TIR.				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity				0	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CAGGCAAGTTCGAGGACAAAC	0.527													T	26715444	C	T	26715444	2	4	104	1	0	0	0	0	0	0	0	1	13842	883	31	1		1	SARM1	17	26715444	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	39254	26715444	54479766	5627	72241											
SLC46A1	113235	broad.mit.edu	37	chr17	26731978	26731978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacaatggatcggtggtgaCggaacgtgaagagccgggtg	19	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:26731978C>T	uc002hbf.1	-	2	833	c.737G>A	c.(736-738)CGT>CAT	p.R246H	SLC46A1_uc002hbg.1_Missense_Mutation_p.R246H|SLC46A1_uc010wak.1_Missense_Mutation_p.R246H	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN	proton-coupled folate transporter	246					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity				0	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	TCGGTGGTGACGGAACGTGAA	0.542													T	26731978	C	T	26731978	3	4	104	1	0	0	0	0	1	0	0	0	14644	536	19	1	659	1	SLC46A1	17	26731978	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	16534	26731978	54463232	5628	72242											
RAB34	83871	broad.mit.edu	37	chr17	27041904	27041904	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgccacacggaagaagaattCtcggacattctcacctgaca	8	12	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:27041904C>A	uc002hce.2	-	9	1243	c.619G>T	c.(619-621)GAA>TAA	p.E207*	RAB34_uc002hcg.2_Nonsense_Mutation_p.E199*|RAB34_uc002hcf.2_Nonsense_Mutation_p.E208*|RAB34_uc010was.1_Nonsense_Mutation_p.E264*|RAB34_uc010wat.1_Nonsense_Mutation_p.E256*|RAB34_uc002hch.2_Nonsense_Mutation_p.E207*|RAB34_uc010wau.1_Nonsense_Mutation_p.E185*|RAB34_uc010wav.1_Intron	NM_031934	NP_114140	Q9BZG1	RAB34_HUMAN	Ras-related protein RAB34 isoform 1	207					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding				0	Lung NSC(42;0.00431)					AAGAAGAATTCTCGGACATTC	0.577													A	27041904	C	A	27041904	4	1	104	1	0	0	0	0	0	1	0	0	12924	922	32	5	232	5	RAB34	17	27041904	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	309926	27041904	54153306	5629	72243											
PHF12	57649	broad.mit.edu	37	chr17	27239795	27239795	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgtcttcacaatgatgccGacggtgtggttctgaaggcc	12	10	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:27239795G>A	uc002hdg.1	-	9	2324	c.1794C>T	c.(1792-1794)GTC>GTT	p.V598V	PHF12_uc010wbb.1_Silent_p.V580V|PHF12_uc002hdi.1_Silent_p.V594V|PHF12_uc002hdj.1_Silent_p.V598V|PHF12_uc010crw.1_Silent_p.V301V|PHF12_uc002hdh.1_Silent_p.V381V	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	598	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CAATGATGCCGACGGTGTGGT	0.637													A	27239795	G	A	27239795	2	1	104	1	0	0	0	0	0	0	0	1	11823	1045	37	1		1	PHF12	17	27239795	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	197891	27239795	53955415	5630	72244											
MYO18A	399687	broad.mit.edu	37	chr17	27493497	27493497	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagagtgctctgagggcgtCgaggtttctgaggcgctctc	16	10	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:27493497C>T	uc002hdt.1	-	2	620	c.462G>A	c.(460-462)TCG>TCA	p.S154S	MYO18A_uc010csa.1_Silent_p.S154S|MYO18A_uc002hdu.1_Silent_p.S154S	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	154					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTGAGGGCGTCGAGGTTTCTG	0.617													T	27493497	C	T	27493497	2	4	104	1	0	0	0	0	0	0	0	1	10065	871	31	1		1	MYO18A	17	27493497	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	253702	27493497	53701713	5631	72245											
CRYBA1	1411	broad.mit.edu	37	chr17	27581350	27581350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcgcagatccaatcgattCgccgaatccaacagtagctg	8	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:27581350C>T	uc002hdw.2	+	6	638	c.631C>T	c.(631-633)CGC>TGC	p.R211C		NM_005208	NP_005199	P05813	CRBA1_HUMAN	crystallin, beta A3	211	Beta/gamma crystallin 'Greek key' 4.				visual perception	soluble fraction	structural constituent of eye lens				0			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CCAATCGATTCGCCGAATCCA	0.438													T	27581350	C	T	27581350	3	4	104	1	0	0	0	0	1	0	0	0	3907	884	31	1	653	1	CRYBA1	17	27581350	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	87853	27581350	53613860	5632	72246											
EFCAB5	374786	broad.mit.edu	37	chr17	28405430	28405430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgaggaattctgccaggCggaaatggctgcaccaaatc	12	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:28405430C>T	uc002het.2	+	15	3127	c.2935C>T	c.(2935-2937)CGG>TGG	p.R979W	EFCAB5_uc010cse.2_Missense_Mutation_p.R734W|EFCAB5_uc010csf.2_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	979							calcium ion binding			ovary(1)|skin(1)	2						TTCTGCCAGGCGGAAATGGCT	0.493													T	28405430	C	T	28405430	3	4	104	1	0	0	0	0	1	0	0	0	4938	759	27	1	3160	1	EFCAB5	17	28405430	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	824080	28405430	52789780	5633	72247											
SLC6A4	6532	broad.mit.edu	37	chr17	28545146	28545146	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgcacttacgtgtaaaattCttcagcaggggacgtggaat	12	7	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:28545146C>A	uc002hey.3	-	5	1232	c.688G>T	c.(688-690)GAA>TAA	p.E230*		NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	230	Extracellular (Potential).				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GTGTAAAATTCTTCAGCAGGG	0.552													A	28545146	C	A	28545146	4	1	104	1	0	0	0	0	0	1	0	0	14686	922	32	5	1248	5	SLC6A4	17	28545146	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	139716	28545146	52650064	5634	72248											
CPD	1362	broad.mit.edu	37	chr17	28769342	28769342	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaggaggaatgcaggactgGaactatttacaaacaaattg	10	5	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:28769342G>A	uc002hfb.1	+	10	2262	c.2247G>A	c.(2245-2247)TGG>TGA	p.W749*	CPD_uc010wbo.1_Nonsense_Mutation_p.W502*|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	749	Extracellular (Potential).|Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						TGCAGGACTGGAACTATTTAC	0.353													A	28769342	G	A	28769342	4	1	104	1	0	0	0	0	0	1	0	0	3798	1183	41	4	2285	4	CPD	17	28769342	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	224196	28769342	52425868	5635	72249											
NF1	4763	broad.mit.edu	37	chr17	29541481	29541481	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttttagagtcttacatttAaagaaaaagtaacaagcctt	6	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:29541481A>C	uc002hgg.2	+	13	1738	c.1405A>C	c.(1405-1407)AAA>CAA	p.K469Q	NF1_uc002hge.1_Missense_Mutation_p.K469Q|NF1_uc002hgf.1_Missense_Mutation_p.K469Q|NF1_uc002hgh.2_Missense_Mutation_p.K469Q|NF1_uc010csn.1_Missense_Mutation_p.K329Q	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	469					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTTACATTTAAAGAAAAAGT	0.299			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			C	29541481	A	C	29541481	3	2	104	1	0	0	0	0	1	0	0	0	10356	363	13	5	1455	5	NF1	17	29541481	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	772139	29541481	51653729	5636	72250											
NF1	4763	broad.mit.edu	37	chr17	29685995	29685995	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatttgttgcaggttttggtTttaatggcttgtggcggttt	14	3	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:29685995T>G	uc002hgg.2	+	56	8455	c.8122T>G	c.(8122-8124)TTT>GTT	p.F2708V	NF1_uc002hgh.2_Missense_Mutation_p.F2687V|NF1_uc010cso.2_Missense_Mutation_p.F896V|NF1_uc010wbt.1_Missense_Mutation_p.F186V|NF1_uc010wbu.1_RNA	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2708					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGGTTTTGGTTTTAATGGCTT	0.294			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			G	29685995	T	G	29685995	3	3	104	1	0	0	0	0	1	0	0	0	10356	1841	64	5	8405	5	NF1	17	29685995	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	144514	29685995	51509215	5637	72251											
RAB11FIP4	84440	broad.mit.edu	37	chr17	29854863	29854863	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctcctttcgccagggtGcagcagttggaggaagaaaa	12	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:29854863G>A	uc002hgn.1	+	11	1507	c.1278G>A	c.(1276-1278)GTG>GTA	p.V426V	RAB11FIP4_uc002hgo.2_Silent_p.V324V	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	426	Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			skin(1)	1		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TCGCCAGGGTGCAGCAGTTGG	0.493													A	29854863	G	A	29854863	2	1	104	1	0	0	0	0	0	0	0	1	12896	1306	46	2		2	RAB11FIP4	17	29854863	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	168868	29854863	51340347	5638	72252											
UTP6	55813	broad.mit.edu	37	chr17	30192440	30192440	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcataatattctcttatgttCgccatattgcaggattcctg	6	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:30192440C>T	uc002hgr.2	-	18	1664	c.1581G>A	c.(1579-1581)GCG>GCA	p.A527A	UTP6_uc002hgq.2_Silent_p.A343A|UTP6_uc010cst.2_Silent_p.A376A	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	hepatocellular carcinoma-associated antigen 66	527	HAT 5.				rRNA processing	nucleolus	binding			ovary(1)	1		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CTCTTATGTTCGCCATATTGC	0.303													T	30192440	C	T	30192440	2	4	104	1	0	0	0	0	0	0	0	1	17099	871	31	1		1	UTP6	17	30192440	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	337577	30192440	51002770	5639	72253											
SUZ12	23512	broad.mit.edu	37	chr17	30303573	30303573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttccagccagaagaaaacGaaatcgtgaggatggggaaa	13	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:30303573G>A	uc002hgs.2	+	8	1079	c.857G>A	c.(856-858)CGA>CAA	p.R286Q	SUZ12_uc002hgt.2_Missense_Mutation_p.R263Q	NM_015355	NP_056170	Q15022	SUZ12_HUMAN	joined to JAZF1	286					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		JAZF1/SUZ12(131)	soft_tissue(98)|endometrium(33)	131		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				AGAAGAAAACGAAATCGTGAG	0.348			T	JAZF1	endometrial stromal tumours								A	30303573	G	A	30303573	3	1	104	1	0	0	0	0	1	0	0	0	15413	1058	37	1	887	1	SUZ12	17	30303573	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	111133	30303573	50891637	5640	72254											
C17orf75	64149	broad.mit.edu	37	chr17	30661574	30661574	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatggccatgcacaaagaaGtcatggtgccttcatgaata	9	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:30661574G>T	uc002hhg.2	-	8	816	c.785C>A	c.(784-786)ACT>AAT	p.T262N		NM_022344	NP_071739	Q9HAS0	NJMU_HUMAN	hypothetical protein LOC64149	262					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GCACAAAGAAGTCATGGTGCC	0.498													T	30661574	G	T	30661574	3	4	104	1	0	0	0	0	1	0	0	0	1880	1029	36	5	417	5	C17orf75	17	30661574	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	358001	30661574	50533636	5641	72255											
ZNF207	7756	broad.mit.edu	37	chr17	30678857	30678857	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccttattcagcaccaaaaaGcaaagcattttaaatgccat	4	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:30678857G>T	uc002hhh.3	+	2	242	c.94G>T	c.(94-96)GCA>TCA	p.A32S	ZNF207_uc002hhj.3_Missense_Mutation_p.A32S|ZNF207_uc002hhi.3_Missense_Mutation_p.A32S|ZNF207_uc010csz.2_Missense_Mutation_p.A35S|ZNF207_uc002hhk.1_Missense_Mutation_p.A32S	NM_003457	NP_003448	O43670	ZN207_HUMAN	zinc finger protein 207 isoform a	32	C2H2-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GCACCAAAAAGCAAAGCATTT	0.353													T	30678857	G	T	30678857	3	4	104	1	0	0	0	0	1	0	0	0	17762	971	34	5	100	5	ZNF207	17	30678857	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	17283	30678857	50516353	5642	72256											
MYO1D	4642	broad.mit.edu	37	chr17	31092067	31092067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccattctcaataagaggCgtgtcaccatctactacaaa	6	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:31092067C>T	uc002hho.1	-	8	876	c.864G>A	c.(862-864)ACG>ACA	p.T288T	MYO1D_uc002hhp.1_Silent_p.T288T|MYO1D_uc010wcb.1_Silent_p.T288T	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	288	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CAATAAGAGGCGTGTCACCAT	0.343													T	31092067	C	T	31092067	2	4	104	1	0	0	0	0	0	0	0	1	10071	755	27	1		1	MYO1D	17	31092067	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	413210	31092067	50103143	5643	72257											
TMEM132E	124842	broad.mit.edu	37	chr17	32953302	32953302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccaacagctctctgcagcGctccgagcccttcgtggtgt	11	16	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:32953302G>A	uc002hif.2	+	2	552	c.224G>A	c.(223-225)CGC>CAC	p.R75H		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	75	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		TCTCTGCAGCGCTCCGAGCCC	0.697													A	32953302	G	A	32953302	3	1	104	1	0	0	0	0	1	0	0	0	16045	1087	38	1	230	1	TMEM132E	17	32953302	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1861235	32953302	48241908	5644	72258											
UNC45B	146862	broad.mit.edu	37	chr17	33513399	33513399	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accggggcctggtcattgccTacaacctactggcagccgat	11	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:33513399T>C	uc002hja.2	+	20	2714	c.2617T>C	c.(2617-2619)TAC>CAC	p.Y873H	UNC45B_uc002hjb.2_Missense_Mutation_p.Y871H|UNC45B_uc002hjc.2_Missense_Mutation_p.Y871H|UNC45B_uc010cto.2_Missense_Mutation_p.Y792H	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	873					cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)				GGTCATTGCCTACAACCTACT	0.587													C	33513399	T	C	33513399	3	2	104	1	0	0	0	0	1	0	0	0	16986	1522	53	3	2691	3	UNC45B	17	33513399	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	560097	33513399	47681811	5645	72259											
AMAC1	146861	broad.mit.edu	37	chr17	33521053	33521053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggagttcccagaagggggtCgccacgcagtttaagtagca	14	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:33521053C>T	uc002hjd.2	-	1	360	c.274G>A	c.(274-276)GAC>AAC	p.D92N		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	92	DUF6 1.					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(366;0.0917)		AGAAGGGGGTCGCCACGCAGT	0.582													T	33521053	C	T	33521053	3	4	104	1	0	0	0	0	1	0	0	0	559	884	31	1	746	1	AMAC1	17	33521053	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7654	33521053	47674157	5646	72260											
SLFN11	91607	broad.mit.edu	37	chr17	33689883	33689883	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagaagggatttactctgAtcatgcaagcatagccatag	10	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:33689883A>G	uc010ctp.2	-	4	1386	c.944T>C	c.(943-945)ATC>ACC	p.I315T	SLFN11_uc010ctq.2_Missense_Mutation_p.I315T|SLFN11_uc002hjh.3_Missense_Mutation_p.I315T|SLFN11_uc002hjg.3_Missense_Mutation_p.I315T|SLFN11_uc010ctr.2_Missense_Mutation_p.I315T	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	315						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATTTACTCTGATCATGCAAGC	0.463													G	33689883	A	G	33689883	3	3	104	1	0	0	0	0	1	0	0	0	14733	333	12	3	1777	3	SLFN11	17	33689883	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	168830	33689883	47505327	5647	72261											
SLFN12	55106	broad.mit.edu	37	chr17	33738393	33738393	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagatttaaacatctttttAtcattcttctgaaagcaatc	3	8	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:33738393A>G	uc002hji.3	-	4	2078	c.1701T>C	c.(1699-1701)GAT>GAC	p.D567D	SLFN12_uc002hjj.3_Silent_p.D567D|SLFN12_uc010cts.2_Silent_p.D567D	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	schlafen family member 12	567							ATP binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACATCTTTTTATCATTCTTCT	0.333													G	33738393	A	G	33738393	2	3	104	1	0	0	0	0	0	0	0	1	14734	446	16	3		3	SLFN12	17	33738393	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	48510	33738393	47456817	5648	72262											
PEX12	5193	broad.mit.edu	37	chr17	33903184	33903184	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctttcttcagagctgagtTtatcttctcactaacactgt	6	10	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:33903184T>G	uc002hjp.2	-	3	1313	c.697A>C	c.(697-699)AAC>CAC	p.N233H		NM_000286	NP_000277	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	233	Peroxisomal matrix (Potential).				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGAGCTGAGTTTATCTTCTCA	0.408													G	33903184	T	G	33903184	3	3	104	1	0	0	0	0	1	0	0	0	11740	1841	64	5	386	5	PEX12	17	33903184	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	164791	33903184	47292026	5649	72263											
CCL4L2	388372	broad.mit.edu	37	chr17	34539886	34539886	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccttgttctacggatTccaaaccaaaagaggcaagc	8	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:34539886T>G	uc010cuj.2	+	3	270	c.194T>G	c.(193-195)TTC>TGC	p.F65C	CCL4L2_uc002hlh.1_Intron|CCL4L2_uc002hlj.1_Intron|CCL4L2_uc002hli.1_RNA|CCL4L2_uc010cuk.1_RNA	NM_207007	NP_996890	Q8NHW4	CC4L_HUMAN	chemokine (C-C motif) ligand 4-like 2 precursor	65					chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity				0		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTCTACGGATTCCAAACCAAA	0.383													G	34539886	T	G	34539886	3	3	104	1	0	0	0	0	1	0	0	0	2904	1783	62	5	204	5	CCL4L2	17	34539886	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	636702	34539886	46655324	5650	72264											
MYO19	80179	broad.mit.edu	37	chr17	34863332	34863332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaatgaccactccaggCcctcaactgcgtattcctcc	7	15	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:34863332C>T	uc010wcy.1	-	17	2365	c.1373G>A	c.(1372-1374)GGC>GAC	p.G458D	MYO19_uc002hmw.2_Intron|MYO19_uc010cuu.2_RNA|MYO19_uc010wcz.1_RNA	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	myosin XIX isoform 2	458	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)	1		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CCACTCCAGGCCCTCAACTGC	0.557													T	34863332	C	T	34863332	3	4	104	1	0	0	0	0	1	0	0	0	10067	739	26	2	1583	2	MYO19	17	34863332	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	323446	34863332	46331878	5651	72265											
LHX1	3975	broad.mit.edu	37	chr17	35299591	35299591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttccgcagtccgcgccGgatgcggccgctggtggacc	14	16	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:35299591G>A	uc002hnh.1	+	4	1766	c.770G>A	c.(769-771)CGG>CAG	p.R257Q		NM_005568	NP_005559	P48742	LHX1_HUMAN	LIM homeobox protein 1	257					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(25;0.00607)				AGTCCGCGCCGGATGCGGCCG	0.711													A	35299591	G	A	35299591	3	1	104	1	0	0	0	0	1	0	0	0	8770	1116	39	1	784	1	LHX1	17	35299591	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	436259	35299591	45895619	5652	72266											
AATF	26574	broad.mit.edu	37	chr17	35378259	35378259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttgcaatccagaagttacGaagcaaaatccacaaaaaag	7	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:35378259G>A	uc002hni.2	+	10	1744	c.1493G>A	c.(1492-1494)CGA>CAA	p.R498Q	AATF_uc002hnj.2_RNA	NM_012138	NP_036270	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	498					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity				0		Breast(25;0.00607)				CAGAAGTTACGAAGCAAAATC	0.343													A	35378259	G	A	35378259	3	1	104	1	0	0	0	0	1	0	0	0	25	1058	37	1	1531	1	AATF	17	35378259	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	78668	35378259	45816951	5653	72267											
ACACA	31	broad.mit.edu	37	chr17	35550339	35550339	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccttgctcggaatgtaaaAaatttagggaattctctctg	8	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:35550339A>C	uc002hnm.2	-	36	4256	c.4065T>G	c.(4063-4065)TTT>TTG	p.F1355L	ACACA_uc002hnk.2_Missense_Mutation_p.F1277L|ACACA_uc002hnl.2_Missense_Mutation_p.F1297L|ACACA_uc002hnn.2_Missense_Mutation_p.F1355L|ACACA_uc002hno.2_Missense_Mutation_p.F1392L|ACACA_uc010cuy.2_Missense_Mutation_p.F49L	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1355					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGAATGTAAAAAATTTAGGGA	0.338													C	35550339	A	C	35550339	3	2	104	1	0	0	0	0	1	0	0	0	106	11	1	5	3059	5	ACACA	17	35550339	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	172080	35550339	45644871	5654	72268											
SYNRG	11276	broad.mit.edu	37	chr17	35913722	35913722	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttttgctcagatgaaatAgagctattactgaaagccat	9	7	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:35913722A>C	uc002hoa.2	-	14	2186	c.2103T>G	c.(2101-2103)TCT>TCG	p.S701S	SYNRG_uc010wde.1_Silent_p.S623S|SYNRG_uc010wdf.1_Silent_p.S623S|SYNRG_uc002hoc.2_Silent_p.S622S|SYNRG_uc002hoe.2_Silent_p.S623S|SYNRG_uc002hod.2_Silent_p.S623S|SYNRG_uc010wdg.1_Silent_p.S540S|SYNRG_uc002hob.2_Silent_p.S701S|SYNRG_uc002hof.2_Silent_p.S413S|SYNRG_uc010cvd.1_Silent_p.S501S	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	701	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						CAGATGAAATAGAGCTATTAC	0.453													C	35913722	A	C	35913722	2	2	104	1	0	0	0	0	0	0	0	1	15457	407	15	5		5	SYNRG	17	35913722	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	363383	35913722	45281488	5655	72269											
GPR179	440435	broad.mit.edu	37	chr17	36484565	36484565	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccaagctgtgacatcttcGatttccgattttccaggcat	7	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:36484565G>A	uc002hpz.2	-	11	4908	c.4887C>T	c.(4885-4887)ATC>ATT	p.I1629I		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1629	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGACATCTTCGATTTCCGATT	0.512													A	36484565	G	A	36484565	2	1	104	1	0	0	0	0	0	0	0	1	6674	1048	37	1		1	GPR179	17	36484565	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	570843	36484565	44710645	5656	72270											
GPR179	440435	broad.mit.edu	37	chr17	36485203	36485203	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtctcctcccggtttctgttCtttccaaaaggttgctttcc	7	13	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:36485203C>A	uc002hpz.2	-	11	4270	c.4249G>T	c.(4249-4251)GAA>TAA	p.E1417*		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1417	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGTTTCTGTTCTTTCCAAAAG	0.537													A	36485203	C	A	36485203	4	1	104	1	0	0	0	0	0	1	0	0	6674	922	32	5	2858	5	GPR179	17	36485203	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	638	36485203	44710007	5657	72271											
FBXO47	494188	broad.mit.edu	37	chr17	37101317	37101317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accaaaaagcagaatcacttCgatgtgtccaatgatcaagg	8	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:37101317C>T	uc002hrc.2	-	7	889	c.689G>A	c.(688-690)CGA>CAA	p.R230Q		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	F-box protein 47	230											0						AGAATCACTTCGATGTGTCCA	0.388													T	37101317	C	T	37101317	3	4	104	1	0	0	0	0	1	0	0	0	5756	884	31	1	689	1	FBXO47	17	37101317	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	616114	37101317	44093893	5658	72272											
FBXL20	84961	broad.mit.edu	37	chr17	37455249	37455249	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttatgtttttaccttaatGcattgtctcccactccaaga	5	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:37455249G>T	uc010wed.1	-	5	544	c.323C>A	c.(322-324)GCA>GAA	p.A108E	FBXL20_uc002hrt.2_Missense_Mutation_p.A108E|FBXL20_uc010cvu.2_Missense_Mutation_p.A108E	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	108	LRR 2.					cytoplasm				ovary(1)	1			LUAD - Lung adenocarcinoma(14;0.146)			TTACCTTAATGCATTGTCTCC	0.388													T	37455249	G	T	37455249	3	4	104	1	0	0	0	0	1	0	0	0	5717	1319	46	5	1031	5	FBXL20	17	37455249	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	353932	37455249	43739961	5659	72273											
MED1	5469	broad.mit.edu	37	chr17	37565245	37565245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactgactgtgagaggaagGcttgcccaccatcactgttc	10	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:37565245G>A	uc002hrv.3	-	17	3441	c.3229C>T	c.(3229-3231)CCT>TCT	p.P1077S	MED1_uc010wee.1_Missense_Mutation_p.P905S|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1077					androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGAGAGGAAGGCTTGCCCACC	0.517										HNSCC(31;0.082)			A	37565245	G	A	37565245	3	1	104	1	0	0	0	0	1	0	0	0	9425	1203	42	2	1520	2	MED1	17	37565245	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	109996	37565245	43629965	5660	72274											
CDK12	51755	broad.mit.edu	37	chr17	37650863	37650863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcgtgaaatcaaaatccttCgtcagttaatccaccgaagt	6	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:37650863C>T	uc010cvv.2	+	5	2921	c.2335C>T	c.(2335-2337)CGT>TGT	p.R779C	CDK12_uc010wef.1_Missense_Mutation_p.R778C|CDK12_uc002hrw.3_Missense_Mutation_p.R779C	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	779	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						CAAAATCCTTCGTCAGTTAat	0.279										TCGA Ovarian(9;0.13)			T	37650863	C	T	37650863	3	4	104	1	0	0	0	0	1	0	0	0	3128	884	31	1	2353	1	CDK12	17	37650863	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	85618	37650863	43544347	5661	72275											
GSDMB	55876	broad.mit.edu	37	chr17	38068679	38068679	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actgcctgaaattgttatttCtttgggtaatctcactatca	6	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:38068679C>A	uc010cwj.2	-	2	312	c.307G>T	c.(307-309)GAA>TAA	p.E103*	GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_RNA|GSDMB_uc002htg.2_Nonsense_Mutation_p.E103*|GSDMB_uc002hth.2_Nonsense_Mutation_p.E103*|GSDMB_uc010wem.1_Nonsense_Mutation_p.E103*	NM_001042471	NP_001035936	Q8TAX9	GSDMB_HUMAN	gasdermin B isoform 1	103						cytoplasm				breast(1)|pancreas(1)	2						ATTGTTATTTCTTTGGGTAAT	0.423													A	38068679	C	A	38068679	4	1	104	1	0	0	0	0	0	1	0	0	6817	922	32	5	979	5	GSDMB	17	38068679	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	417816	38068679	43126531	5662	72276											
THRA	7067	broad.mit.edu	37	chr17	38249572	38249572	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcagtgaggcggactccccGagctcctctgaggaggaacc	14	13	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:38249572G>A	uc002htw.2	+	10	1893	c.1410G>A	c.(1408-1410)CCG>CCA	p.P470P	THRA_uc002htx.2_Silent_p.P431P|NR1D1_uc002htz.1_Intron|NR1D1_uc010cwq.1_Intron	NM_003250	NP_003241	P10827	THA_HUMAN	thyroid hormone receptor, alpha isoform 2	470					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding				0	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	CGGACTCCCCGAGCTCCTCTG	0.652													A	38249572	G	A	38249572	2	1	104	1	0	0	0	0	0	0	0	1	15870	1045	37	1		1	THRA	17	38249572	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	180893	38249572	42945638	5663	72277											
CCR7	1236	broad.mit.edu	37	chr17	38711747	38711747	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggcaaagatgagcttgcaAaagtggacaccgaagaccca	11	9	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:38711747A>C	uc002huw.2	-	3	447	c.384T>G	c.(382-384)TTT>TTG	p.F128L		NM_001838	NP_001829	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7 precursor	128	Extracellular (Potential).				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)	1		Breast(137;0.000496)				TGAGCTTGCAAAAGTGGACAC	0.562													C	38711747	A	C	38711747	3	2	104	1	0	0	0	0	1	0	0	0	2946	11	1	5	756	5	CCR7	17	38711747	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	462175	38711747	42483463	5664	72278											
KRT25	147183	broad.mit.edu	37	chr17	38907471	38907471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgctctgcaagggcttcGtactcagctcgcatgttgtt	10	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:38907471G>A	uc002hve.2	-	4	838	c.777C>T	c.(775-777)TAC>TAT	p.Y259Y		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	259	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)				CAAGGGCTTCGTACTCAGCTC	0.572													A	38907471	G	A	38907471	2	1	104	1	0	0	0	0	0	0	0	1	8462	1140	40	1		1	KRT25	17	38907471	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	195724	38907471	42287739	5665	72279											
KRT26	353288	broad.mit.edu	37	chr17	38926007	38926007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatggcgattcctacgtaccAcagccatgagggactgaagt	11	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:38926007A>G	uc002hvf.2	-	5	1014	c.968T>C	c.(967-969)GTG>GCG	p.V323A		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	keratin 26	323	Rod.|Coil 2.					intermediate filament	structural molecule activity				0		Breast(137;0.00526)				CCTACGTACCACAGCCATGAG	0.393													G	38926007	A	G	38926007	3	3	104	1	0	0	0	0	1	0	0	0	8463	173	6	3	454	3	KRT26	17	38926007	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	18536	38926007	42269203	5666	72280											
KRT27	342574	broad.mit.edu	37	chr17	38938569	38938569	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcccccgcccagacctccGccatagcctcctgcagatga	7	20	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:38938569G>A	uc002hvg.2	-	1	218	c.177C>T	c.(175-177)GGC>GGT	p.G59G		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	59	Head.|Gly-rich.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)				CCAGACCTCCGCCATAGCCTC	0.597													A	38938569	G	A	38938569	2	1	104	1	0	0	0	0	0	0	0	1	8464	1074	38	1		1	KRT27	17	38938569	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	12562	38938569	42256641	5667	72281											
KRT37	8688	broad.mit.edu	37	chr17	39580043	39580043	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtcatcagcagccagcttCgcgttgtcaatttgtacaat	8	10	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:39580043C>T	uc002hwp.1	-	2	593	c.546G>A	c.(544-546)GCG>GCA	p.A182A	uc002hwo.1_RNA	NM_003770	NP_003761	O76014	KRT37_HUMAN	keratin 37	182	Rod.|Coil 1B.					intermediate filament	structural molecule activity			skin(1)	1		Breast(137;0.000496)				CAGCCAGCTTCGCGTTGTCAA	0.328													T	39580043	C	T	39580043	2	4	104	1	0	0	0	0	0	0	0	1	8474	871	31	1		1	KRT37	17	39580043	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	641474	39580043	41615167	5668	72282											
KRT35	3886	broad.mit.edu	37	chr17	39633950	39633950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccagctgggagctatagCgggcctccgtctctgccagg	16	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:39633950C>T	uc002hws.2	-	6	1083	c.1040G>A	c.(1039-1041)CGC>CAC	p.R347H		NM_002280	NP_002271	Q92764	KRT35_HUMAN	keratin 35	347	Rod.|Coil 2.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			ovary(1)|skin(1)	2		Breast(137;0.000286)				GGAGCTATAGCGGGCCTCCGT	0.592													T	39633950	C	T	39633950	3	4	104	1	0	0	0	0	1	0	0	0	8472	768	27	1	335	1	KRT35	17	39633950	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	53907	39633950	41561260	5669	72283											
KRT13	3860	broad.mit.edu	37	chr17	39661466	39661466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggtaggaagccaggcggtCgttgaggttctgcatggtga	17	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:39661466C>T	uc002hwu.1	-	1	400	c.337G>A	c.(337-339)GAC>AAC	p.D113N	KRT13_uc002hwv.1_Missense_Mutation_p.D113N|KRT13_uc002hww.2_Missense_Mutation_p.D6N|KRT13_uc010wfr.1_Missense_Mutation_p.D6N|KRT13_uc010cxo.2_Missense_Mutation_p.D113N|KRT13_uc002hwx.1_Missense_Mutation_p.D101N	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	113	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|skin(2)|pancreas(1)	5		Breast(137;0.000286)				GCCAGGCGGTCGTTGAGGTTC	0.438													T	39661466	C	T	39661466	3	4	104	1	0	0	0	0	1	0	0	0	8450	884	31	1	1071	1	KRT13	17	39661466	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	27516	39661466	41533744	5670	72284											
ACLY	47	broad.mit.edu	37	chr17	40065299	40065299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtagaaattgaagaggcCggagataaaactggccagaa	12	7	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:40065299C>T	uc002hyg.2	-	6	722	c.559G>A	c.(559-561)GGC>AGC	p.G187S	ACLY_uc002hyh.2_Missense_Mutation_p.G187S|ACLY_uc002hyi.2_Missense_Mutation_p.G241S|ACLY_uc010wfx.1_Missense_Mutation_p.G241S|ACLY_uc010wfy.1_Intron	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	187					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				TTGAAGAGGCCGGAGATAAAA	0.577													T	40065299	C	T	40065299	3	4	104	1	0	0	0	0	1	0	0	0	143	652	23	1	2842	1	ACLY	17	40065299	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	403833	40065299	41129911	5671	72285											
RAB5C	5878	broad.mit.edu	37	chr17	40278791	40278791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctattgccatgaagatttCgttcacgttcattgcagtct	7	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:40278791C>T	uc002hyz.2	-	6	834	c.517G>A	c.(517-519)GAA>AAA	p.E173K	RAB5C_uc002hza.2_Missense_Mutation_p.E173K|RAB5C_uc010cxx.2_Missense_Mutation_p.E206K|RAB5C_uc010cxy.2_Missense_Mutation_p.E85K	NM_201434	NP_958842	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family isoform a	173					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|skin(1)	2		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		ATGAAGATTTCGTTCACGTTC	0.527													T	40278791	C	T	40278791	3	4	104	1	0	0	0	0	1	0	0	0	12950	893	31	1	141	1	RAB5C	17	40278791	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	213492	40278791	40916419	5672	72286											
KCNH4	23415	broad.mit.edu	37	chr17	40330965	40330965	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcggtgcgaccgtagcctgtGagctcgcagaagccgtcgga	15	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:40330965G>T	uc002hzb.2	-	2	489	c.156C>A	c.(154-156)CTC>CTA	p.L52L		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	52	Cytoplasmic (Potential).|PAS.				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CGTAGCCTGTGAGCTCGCAGA	0.612													T	40330965	G	T	40330965	2	4	104	1	0	0	0	0	0	0	0	1	8034	1277	45	5		5	KCNH4	17	40330965	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	52174	40330965	40864245	5673	72287											
HCRT	3060	broad.mit.edu	37	chr17	40336439	40336439	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tagaggcggcaagagcaagtCttttgacgacagcagtcggg	15	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:40336439C>A	uc002hzc.1	-	2	216	c.129G>T	c.(127-129)AAG>AAT	p.K43N		NM_001524	NP_001515	O43612	OREX_HUMAN	orexin precursor	43					neuropeptide signaling pathway	cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle					0		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AAGAGCAAGTCTTTTGACGAC	0.622													A	40336439	C	A	40336439	3	1	104	1	0	0	0	0	1	0	0	0	7000	912	32	5	270	5	HCRT	17	40336439	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5474	40336439	40858771	5674	72288											
STAT5B	6777	broad.mit.edu	37	chr17	40354820	40354820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcacgtatccatcaacaGctttagctgccaagggaaga	9	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:40354820G>A	uc002hzh.2	-	17	2253	c.2084C>T	c.(2083-2085)GCT>GTT	p.A695V		NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	695					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)|skin(1)	6		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TCCATCAACAGCTTTAGCTGC	0.453													A	40354820	G	A	40354820	3	1	104	1	0	0	0	0	1	0	0	0	15268	971	34	2	291	2	STAT5B	17	40354820	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	18381	40354820	40840390	5675	72289											
STAT5A	6776	broad.mit.edu	37	chr17	40456604	40456604	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcagagtccgtgacagaggaGaagttcacagtcctgtttga	13	8	1	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:40456604G>T	uc002hzj.1	+	12	1956	c.1314G>T	c.(1312-1314)GAG>GAT	p.E438D	STAT5A_uc010cya.1_Missense_Mutation_p.E438D|STAT5A_uc010cyb.1_Missense_Mutation_p.E438D|STAT5A_uc010cyc.1_Missense_Mutation_p.E408D|STAT5A_uc010cyd.1_5'Flank|STAT5A_uc010cye.1_5'Flank	NM_003152	NP_003143	P42229	STA5A_HUMAN	signal transducer and activator of transcription	438					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TGACAGAGGAGAAGTTCACAG	0.602													T	40456604	G	T	40456604	3	4	104	1	0	0	0	0	1	0	0	0	15267	933	33	5	1352	5	STAT5A	17	40456604	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	101784	40456604	40738606	5676	72290											
CNTNAP1	8506	broad.mit.edu	37	chr17	40839829	40839829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagtgcccggtttcccacGccgtggccgcctggcagtct	12	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:40839829G>A	uc002iay.2	+	8	1352	c.1136G>A	c.(1135-1137)CGC>CAC	p.R379H	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	379	Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GGTTTCCCACGCCGTGGCCGC	0.637													A	40839829	G	A	40839829	3	1	104	1	0	0	0	0	1	0	0	0	3646	1087	38	1	1166	1	CNTNAP1	17	40839829	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	383225	40839829	40355381	5677	72291											
BRCA1	672	broad.mit.edu	37	chr17	41244869	41244869	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgacttttggactttgtttCtttaaggacccagagtgggc	12	7	1	2	rs80357891		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:41244869C>A	uc002icq.2	-	10	2911	c.2679G>T	c.(2677-2679)AAG>AAT	p.K893N	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.K822N|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.K846N|BRCA1_uc002ict.2_Missense_Mutation_p.K893N|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.K893N|BRCA1_uc002ide.1_Missense_Mutation_p.K724N|BRCA1_uc010cyy.1_Missense_Mutation_p.K893N|BRCA1_uc010whs.1_Missense_Mutation_p.K893N|BRCA1_uc010cyz.2_Missense_Mutation_p.K846N|BRCA1_uc010cza.2_Missense_Mutation_p.K867N|BRCA1_uc010wht.1_Missense_Mutation_p.K597N	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	893					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GACTTTGTTTCTTTAAGGACC	0.393			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			A	41244869	C	A	41244869	3	1	104	1	0	0	0	0	1	0	0	0	1498	912	32	5	3038	5	BRCA1	17	41244869	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	405040	41244869	39950341	5678	72292											
MEOX1	4222	broad.mit.edu	37	chr17	41720906	41720906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatctcatatctgcggagccGagtcaggtagttatgatggg	13	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:41720906G>A	uc002idz.2	-	2	621	c.592C>T	c.(592-594)CGG>TGG	p.R198W	MEOX1_uc002iea.2_Intron|MEOX1_uc002ieb.2_Missense_Mutation_p.R83W	NM_004527	NP_004518	P50221	MEOX1_HUMAN	mesenchyme homeobox 1 isoform 1	198	Homeobox.					nucleus	sequence-specific DNA binding				0		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		CTGCGGAGCCGAGTCAGGTAG	0.522													A	41720906	G	A	41720906	3	1	104	1	0	0	0	0	1	0	0	0	9473	1057	37	1	180	1	MEOX1	17	41720906	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	476037	41720906	39474304	5679	72293											
CD300LG	146894	broad.mit.edu	37	chr17	41925966	41925966	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagaggaaatcagcgggttCgaaggggacactgtgtccct	14	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:41925966C>T	uc002iem.2	+	2	125	c.84C>T	c.(82-84)TTC>TTT	p.F28F	CD300LG_uc002iek.1_Silent_p.F28F|CD300LG_uc002iel.1_Silent_p.F28F|CD300LG_uc010czk.2_Silent_p.F28F|CD300LG_uc010wil.1_Silent_p.F28F|CD300LG_uc010czl.2_Silent_p.F28F	NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g precursor	28	Extracellular (Potential).|Ig-like V-type.					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity				0		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCAGCGGGTTCGAAGGGGACA	0.567													T	41925966	C	T	41925966	2	4	104	1	0	0	0	0	0	0	0	1	3002	883	31	1		1	CD300LG	17	41925966	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	205060	41925966	39269244	5680	72294											
ITGA2B	3674	broad.mit.edu	37	chr17	42452077	42452077	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccgcataggggagggAggacacgttgaaccatgcgt	17	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:42452077A>G	uc002igt.1	-	28	2925	c.2893T>C	c.(2893-2895)TCC>CCC	p.S965P	ITGA2B_uc002igu.1_3'UTR	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	965	Extracellular (Potential).				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TAGGGGAGGGAGGACACGTTG	0.612													G	42452077	A	G	42452077	3	3	104	1	0	0	0	0	1	0	0	0	7876	304	11	3	238	3	ITGA2B	17	42452077	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	526111	42452077	38743133	5681	72295											
FZD2	2535	broad.mit.edu	37	chr17	42635315	42635315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaaggtgcagtgctcgcccGaactgcgcttcttcctgtgc	12	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:42635315G>A	uc002igx.1	+	1	391	c.259G>A	c.(259-261)GAA>AAA	p.E87K		NM_001466	NP_001457	Q14332	FZD2_HUMAN	frizzled 2 precursor	87	FZ.|Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GTGCTCGCCCGAACTGCGCTT	0.642													A	42635315	G	A	42635315	3	1	104	1	0	0	0	0	1	0	0	0	6130	1059	37	1	261	1	FZD2	17	42635315	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	183238	42635315	38559895	5682	72296											
C17orf104	284071	broad.mit.edu	37	chr17	42745389	42745389	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccattcagttgttccactgTtggattcctatgacttactt	7	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:42745389T>G	uc010czv.2	+	5	2110	c.2110T>G	c.(2110-2112)TTG>GTG	p.L704V	C17orf104_uc002igy.1_Missense_Mutation_p.L538V|C17orf104_uc002igz.3_Missense_Mutation_p.L538V|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Missense_Mutation_p.L538V	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN	hypothetical protein LOC284071	704										central_nervous_system(1)	1						TGTTCCACTGTTGGATTCCTA	0.383													G	42745389	T	G	42745389	3	3	104	1	0	0	0	0	1	0	0	0	1851	1722	60	5	2128	5	C17orf104	17	42745389	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	110074	42745389	38449821	5683	72297											
ADAM11	4185	broad.mit.edu	37	chr17	42850282	42850282	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtatgtggagctaattgtgAtcaacgaccaccagctggtg	12	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:42850282A>G	uc002ihh.2	+	9	736	c.736A>G	c.(736-738)ATC>GTC	p.I246V	ADAM11_uc010wjd.1_Missense_Mutation_p.I46V	NM_002390	NP_002381	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11 preproprotein	246	Extracellular (Potential).|Peptidase M12B.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			pancreas(1)	1		Prostate(33;0.0959)				GCTAATTGTGATCAACGACCA	0.612													G	42850282	A	G	42850282	3	3	104	1	0	0	0	0	1	0	0	0	235	333	12	3	770	3	ADAM11	17	42850282	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	104893	42850282	38344928	5684	72298											
GJC1	10052	broad.mit.edu	37	chr17	42882006	42882006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccaggattaaatccagaCggaggtcttcccatcccctg	9	15	1	1	rs146820007		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:42882006C>T	uc002ihj.2	-	2	1691	c.1180G>A	c.(1180-1182)GTC>ATC	p.V394I	GJC1_uc002ihk.2_Missense_Mutation_p.V394I|GJC1_uc002ihl.2_Missense_Mutation_p.V394I|GJC1_uc010czx.2_Missense_Mutation_p.V394I|GJC1_uc010czy.1_Missense_Mutation_p.V255I	NM_005497	NP_005488	P36383	CXG1_HUMAN	connexin 45	394	Cytoplasmic (Potential).				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane					0		Prostate(33;0.0959)				TAAATCCAGACGGAGGTCTTC	0.488													T	42882006	C	T	42882006	3	4	104	1	0	0	0	0	1	0	0	0	6414	536	19	1	14	1	GJC1	17	42882006	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	31724	42882006	38313204	5685	72299											
HIGD1B	51751	broad.mit.edu	37	chr17	42926632	42926632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccacaggcttaggaggCtgcttggtggtagcagcata	14	10	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:42926632C>T	uc002ihm.2	+	2	353	c.111C>T	c.(109-111)GGC>GGT	p.G37G		NM_016438	NP_057522	Q9P298	HIG1B_HUMAN	HIG1 hypoxia inducible domain family, member 1B	37	HIG1.|Helical; (Potential).					integral to membrane					0		Prostate(33;0.109)				GCTTAGGAGGCTGCTTGGTGG	0.582													T	42926632	C	T	42926632	2	4	104	1	0	0	0	0	0	0	0	1	7107	784	28	2		2	HIGD1B	17	42926632	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	44626	42926632	38268578	5686	72300											
GFAP	2670	broad.mit.edu	37	chr17	42992513	42992513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagctcagcctggtagacGtctgccagcttggtgggctc	14	13	2	1	rs115282391	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:42992513G>A	uc002ihq.2	-	1	402	c.342C>T	c.(340-342)GAC>GAT	p.D114D	GFAP_uc002ihr.2_Silent_p.D114D|GFAP_uc010wjg.1_RNA	NM_002055	NP_002046	P14136	GFAP_HUMAN	glial fibrillary acidic protein isoform 1	114	Linker 1.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			ovary(1)|pancreas(1)	2		Prostate(33;0.0959)				CCTGGTAGACGTCTGCCAGCT	0.627													A	42992513	G	A	42992513	2	1	104	1	0	0	0	0	0	0	0	1	6337	1136	40	1		1	GFAP	17	42992513	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	65881	42992513	38202697	5687	72301											
KIF18B	146909	broad.mit.edu	37	chr17	43012671	43012671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgcttctcctgctggcGggcctccaggcgcctgtaca	13	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:43012671G>A	uc010wji.1	-	3	528	c.427C>T	c.(427-429)CGC>TGC	p.R143C	KIF18B_uc002iht.2_Missense_Mutation_p.R143C|KIF18B_uc010wjh.1_Missense_Mutation_p.R143C	NM_001080443	NP_001073912			kinesin family member 18B											ovary(2)	2		Prostate(33;0.155)				TCCTGCTGGCGGGCCTCCAGG	0.662													A	43012671	G	A	43012671	3	1	104	1	0	0	0	0	1	0	0	0	8281	1116	39	1	2195	1	KIF18B	17	43012671	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	20158	43012671	38182539	5688	72302											
C17orf46	124783	broad.mit.edu	37	chr17	43332645	43332645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcagtggtgctctggcttCgcgtggtttctctggcaggg	15	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:43332645C>T	uc002iis.1	-	4	1000	c.904G>A	c.(904-906)GAA>AAA	p.E302K	LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Missense_Mutation_p.E281K	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	hypothetical protein LOC124783	302										large_intestine(1)|ovary(1)	2						GCTCTGGCTTCGCGTGGTTTC	0.557													T	43332645	C	T	43332645	3	4	104	1	0	0	0	0	1	0	0	0	1857	893	31	1	258	1	C17orf46	17	43332645	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	319974	43332645	37862565	5689	72303											
CRHR1	1394	broad.mit.edu	37	chr17	43907879	43907879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacctgcacacagccatcGtgctcacctactccactgac	6	18	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:43907879G>A	uc010dap.2	+	8	1004	c.739G>A	c.(739-741)GTG>ATG	p.V247M	CRHR1_uc010wjx.1_Missense_Mutation_p.V43M|CRHR1_uc002ijp.2_Missense_Mutation_p.V117M|CRHR1_uc002ijm.2_Missense_Mutation_p.V218M|CRHR1_uc002ijn.2_Missense_Mutation_p.V178M|CRHR1_uc010dar.2_Missense_Mutation_p.V218M|CRHR1_uc010dao.2_Missense_Mutation_p.V117M|CRHR1_uc010daq.2_Missense_Mutation_p.V43M	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	247	Cytoplasmic (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(3)	3	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CACAGCCATCGTGCTCACCTA	0.617													A	43907879	G	A	43907879	3	1	104	1	0	0	0	0	1	0	0	0	3871	1145	40	1	769	1	CRHR1	17	43907879	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	575234	43907879	37287331	5690	72304											
C17orf57	124989	broad.mit.edu	37	chr17	45455139	45455139	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgtgtatttagaaaacttCtgtgaagctatcagtaaact	7	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:45455139C>A	uc002iln.2	+	13	1791	c.1380C>A	c.(1378-1380)TTC>TTA	p.F460L	C17orf57_uc002ilm.2_Missense_Mutation_p.F364L|C17orf57_uc010daz.1_Missense_Mutation_p.F412L	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	hypothetical protein LOC124989	460							calcium ion binding			breast(1)|central_nervous_system(1)|skin(1)	3						TAGAAAACTTCTGTGAAGCTA	0.294													A	45455139	C	A	45455139	3	1	104	1	0	0	0	0	1	0	0	0	1865	912	32	5	1418	5	C17orf57	17	45455139	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1547260	45455139	35740071	5691	72305											
KPNB1	3837	broad.mit.edu	37	chr17	45734311	45734311	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgtgcagagatcccagTaaaccagtggccagaactca	10	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:45734311T>C	uc002ilt.1	+	4	704	c.368T>C	c.(367-369)GTA>GCA	p.V123A	KPNB1_uc010wkw.1_5'UTR|KPNB1_uc010wkx.1_5'UTR	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	123					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						GAGATCCCAGTAAACCAGTGG	0.493													C	45734311	T	C	45734311	3	2	104	1	0	0	0	0	1	0	0	0	8435	1638	57	3	382	3	KPNB1	17	45734311	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	279172	45734311	35460899	5692	72306											
TBX21	30009	broad.mit.edu	37	chr17	45822165	45822165	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccccgcctggacccaactgTcaattccttgggggagatca	10	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:45822165T>C	uc002ilv.1	+	6	1252	c.1041T>C	c.(1039-1041)TGT>TGC	p.C347C		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	T-box 21	347					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0						GACCCAACTGTCAATTCCTTG	0.537													C	45822165	T	C	45822165	2	2	104	1	0	0	0	0	0	0	0	1	15654	1673	58	3		3	TBX21	17	45822165	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	87854	45822165	35373045	5693	72307											
CDK5RAP3	80279	broad.mit.edu	37	chr17	46058857	46058857	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccctgtgaacctgatgggaAcctctctgtgacaccctccg	10	15	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:46058857A>G	uc002imr.2	+	14	1594	c.1510A>G	c.(1510-1512)ACC>GCC	p.T504A	CDK5RAP3_uc010wlc.1_Missense_Mutation_p.T524A|CDK5RAP3_uc002imq.1_Intron|CDK5RAP3_uc002imu.2_Missense_Mutation_p.T348A|CDK5RAP3_uc002ims.2_Missense_Mutation_p.T417A|CDK5RAP3_uc002imv.2_Missense_Mutation_p.T348A|CDK5RAP3_uc002imw.2_Missense_Mutation_p.T346A|CDK5RAP3_uc002imx.2_Missense_Mutation_p.T279A	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	504					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding				0						CCTGATGGGAACCTCTCTGTG	0.552													G	46058857	A	G	46058857	3	3	104	1	0	0	0	0	1	0	0	0	3147	43	2	3	1564	3	CDK5RAP3	17	46058857	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	236692	46058857	35136353	5694	72308											
IGF2BP1	10642	broad.mit.edu	37	chr17	47123723	47123723	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgaaaatcatcggacatttCtatgccagtcaggtacatat	8	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:47123723C>A	uc002iom.2	+	14	1963	c.1629C>A	c.(1627-1629)TTC>TTA	p.F543L	IGF2BP1_uc010dbj.2_Missense_Mutation_p.F404L	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	543	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).|KH 4.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						TCGGACATTTCTATGCCAGTC	0.522													A	47123723	C	A	47123723	3	1	104	1	0	0	0	0	1	0	0	0	7573	912	32	5	1683	5	IGF2BP1	17	47123723	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1064866	47123723	34071487	5695	72309											
B4GALNT2	124872	broad.mit.edu	37	chr17	47243530	47243530	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggtcaccaccaaatacgttCtctgggtggacgatgatttt	10	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:47243530C>A	uc002ion.2	+	9	1248	c.1189C>A	c.(1189-1191)CTC>ATC	p.L397I	B4GALNT2_uc010wlt.1_Missense_Mutation_p.L311I|B4GALNT2_uc010wlu.1_Missense_Mutation_p.L337I	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	397	Lumenal (Potential).				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2			all cancers(6;0.000316)			CAAATACGTTCTCTGGGTGGA	0.468													A	47243530	C	A	47243530	3	1	104	1	0	0	0	0	1	0	0	0	1267	913	32	5	1241	5	B4GALNT2	17	47243530	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	119807	47243530	33951680	5696	72310											
ZNF652	22834	broad.mit.edu	37	chr17	47388809	47388809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtacttgtactgaaacctttCgtcacagttctgcattggat	8	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:47388809C>T	uc002iov.3	-	5	1638	c.1174G>A	c.(1174-1176)GAA>AAA	p.E392K	ZNF652_uc002iow.2_Missense_Mutation_p.E392K|ZNF652_uc002iou.3_RNA	NM_001145365	NP_001138837	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	392	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TGAAACCTTTCGTCACAGTTC	0.443													T	47388809	C	T	47388809	3	4	104	1	0	0	0	0	1	0	0	0	18062	893	31	1	654	1	ZNF652	17	47388809	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	145279	47388809	33806401	5697	72311											
SLC35B1	10237	broad.mit.edu	37	chr17	47785121	47785121	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggatcccatagtaaaaAtagcagacaaagacacccag	8	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:47785121A>C	uc002iph.1	-	1	162	c.75T>G	c.(73-75)TAT>TAG	p.Y25*	SLC35B1_uc002ipi.1_5'UTR|SLC35B1_uc002ipj.1_Intron|SLC35B1_uc010wly.1_Nonsense_Mutation_p.Y25*	NM_005827	NP_005818	P78383	S35B1_HUMAN	solute carrier family 35, member B1	25	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity				0						CATAGTAAAAATAGCAGACAA	0.637											OREG0024545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	47785121	A	C	47785121	4	2	104	1	0	0	0	0	0	1	0	0	14575	108	4	5	929	5	SLC35B1	17	47785121	Nonsense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	396312	47785121	33410089	5698	72312											
MYST2	11143	broad.mit.edu	37	chr17	47869397	47869398	+	Splice_Site	INS	-	-	A													taagccagagttctcaaggtINSaaaaaaaccttcatttttcc							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:47869397_47869398insA	uc002ipm.2	+	2	289	c.163_splice	c.e2+2	p.D55_splice	MYST2_uc002ipl.1_Splice_Site_p.D55_splice|MYST2_uc010wma.1_Splice_Site_p.G55_splice|MYST2_uc010wmb.1_Splice_Site_p.D55_splice|MYST2_uc010wmc.1_Splice_Site_p.G55_splice|MYST2_uc010wmd.1_Splice_Site|MYST2_uc010wme.1_Splice_Site	NM_007067	NP_008998	O95251	MYST2_HUMAN	MYST histone acetyltransferase 2						DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						GTTCTCAAGGTAAAAAAACCTT	0.495													A	47869398	-	A	47869397	8	5	104	1	0	1	1	0	0	0	1	0	10103	1652	57	0	171	0	MYST2	17	47869397	Splice_Site	INS	-	TCGA-BR-8680-01A-11D-2394-08	84276	47869397	33325813	5699	72313											
MYST2	11143	broad.mit.edu	37	chr17	47874139	47874139	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctgttcgaaatctgcagtCttttggcactgaggagcctg	11	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:47874139C>A	uc002ipm.2	+	3	317	c.191C>A	c.(190-192)TCT>TAT	p.S64Y	MYST2_uc002ipl.1_Missense_Mutation_p.S64Y|MYST2_uc010wma.1_Intron|MYST2_uc010wmb.1_Missense_Mutation_p.S64Y|MYST2_uc010wmc.1_Intron|MYST2_uc010wmd.1_5'UTR|MYST2_uc010wme.1_5'UTR	NM_007067	NP_008998	O95251	MYST2_HUMAN	MYST histone acetyltransferase 2	64					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						AATCTGCAGTCTTTTGGCACT	0.418													A	47874139	C	A	47874139	3	1	104	1	0	0	0	0	1	0	0	0	10103	913	32	5	201	5	MYST2	17	47874139	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4742	47874139	33321071	5700	72314											
MYST2	11143	broad.mit.edu	37	chr17	47893237	47893237	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caagcgagtatgacttggatCttttccgaagagcacaagcc	10	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:47893237C>A	uc002ipm.2	+	8	1051	c.925C>A	c.(925-927)CTT>ATT	p.L309I	MYST2_uc002ipl.1_Missense_Mutation_p.L279I|MYST2_uc010wma.1_Missense_Mutation_p.L170I|MYST2_uc010wmb.1_Missense_Mutation_p.L199I|MYST2_uc010wmc.1_Missense_Mutation_p.L140I|MYST2_uc010wmd.1_Missense_Mutation_p.L153I|MYST2_uc010wme.1_Missense_Mutation_p.L123I|MYST2_uc010wmf.1_5'UTR|MYST2_uc010wmg.1_5'UTR	NM_007067	NP_008998	O95251	MYST2_HUMAN	MYST histone acetyltransferase 2	309					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						TGACTTGGATCTTTTCCGAAG	0.468													A	47893237	C	A	47893237	3	1	104	1	0	0	0	0	1	0	0	0	10103	913	32	5	955	5	MYST2	17	47893237	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	19098	47893237	33301973	5701	72315											
DLX3	1747	broad.mit.edu	37	chr17	48070831	48070831	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgccaggtactgggccTtctggaagcggcgctgcagg	17	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:48070831T>G	uc002ipy.2	-	2	675	c.449A>C	c.(448-450)AAG>ACG	p.K150T		NM_005220	NP_005211	O60479	DLX3_HUMAN	distal-less homeobox 3	150	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GTACTGGGCCTTCTGGAAGCG	0.687													G	48070831	T	G	48070831	3	3	104	1	0	0	0	0	1	0	0	0	4572	1609	56	5	422	5	DLX3	17	48070831	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	177594	48070831	33124379	5702	72316											
ACSF2	80221	broad.mit.edu	37	chr17	48538054	48538054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagttccagagaggtggatCgcatggtctccacgcccatc	11	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:48538054C>T	uc002iqu.2	+	2	249	c.145C>T	c.(145-147)CGC>TGC	p.R49C	ACSF2_uc010wml.1_Missense_Mutation_p.R49C|ACSF2_uc010wmm.1_Missense_Mutation_p.R74C|ACSF2_uc010wmn.1_Missense_Mutation_p.R49C|ACSF2_uc010wmo.1_Intron	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2 precursor	49					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGAGGTGGATCGCATGGTCTC	0.587													T	48538054	C	T	48538054	3	4	104	1	0	0	0	0	1	0	0	0	175	884	31	1	151	1	ACSF2	17	48538054	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	467223	48538054	32657156	5703	72317											
ACSF2	80221	broad.mit.edu	37	chr17	48551589	48551589	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaagattccgaagtacatCgtgtttgtcacaaactaccc	6	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:48551589C>T	uc002iqu.2	+	15	1862	c.1758C>T	c.(1756-1758)ATC>ATT	p.I586I	ACSF2_uc010wml.1_Silent_p.I543I|ACSF2_uc010wmm.1_Silent_p.I611I|ACSF2_uc010wmn.1_Silent_p.I573I|ACSF2_uc010wmo.1_Silent_p.I426I|ACSF2_uc010dbt.1_Silent_p.I90I	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2 precursor	586					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CGAAGTACATCGTGTTTGTCA	0.592													T	48551589	C	T	48551589	2	4	104	1	0	0	0	0	0	0	0	1	175	874	31	1		1	ACSF2	17	48551589	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	13535	48551589	32643621	5704	72318											
ANKRD40	91369	broad.mit.edu	37	chr17	48773432	48773432	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggatgcagcatttctgaacaGaaaattattttcacttatca	6	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:48773432G>A	uc002iso.2	-	5	1288	c.1033C>T	c.(1033-1035)CTG>TTG	p.L345L		NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	345											0			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			TTTCTGAACAGAAAATTATTT	0.388													A	48773432	G	A	48773432	2	1	104	1	0	0	0	0	0	0	0	1	669	933	33	4		4	ANKRD40	17	48773432	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	221843	48773432	32421778	5705	72319											
MBTD1	54799	broad.mit.edu	37	chr17	49280149	49280149	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggcaccagaagtcatctgTtctatcttcgctttcttcat	6	11	6	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:49280149T>C	uc002itr.3	-	10	1320	c.976A>G	c.(976-978)ACA>GCA	p.T326A	MBTD1_uc002itp.3_Missense_Mutation_p.T162A|MBTD1_uc002itq.3_Missense_Mutation_p.T326A	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	326	MBT 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			AAGTCATCTGTTCTATCTTCG	0.423													C	49280149	T	C	49280149	3	2	104	1	0	0	0	0	1	0	0	0	9360	1725	60	3	942	3	MBTD1	17	49280149	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	506717	49280149	31915061	5706	72320											
TMEM100	55273	broad.mit.edu	37	chr17	53798220	53798220	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgtaagccaccgcggtgAccacgatgccggcgatgaag	14	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:53798220A>G	uc002iuj.3	-	2	523	c.212T>C	c.(211-213)GTC>GCC	p.V71A	TMEM100_uc002iuk.3_Missense_Mutation_p.V71A	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	transmembrane protein 100	71	Helical; (Potential).					integral to membrane					0						CACCGCGGTGACCACGATGCC	0.527													G	53798220	A	G	53798220	3	3	104	1	0	0	0	0	1	0	0	0	16012	275	10	3	196	3	TMEM100	17	53798220	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	4518071	53798220	27396990	5707	72321											
COIL	8161	broad.mit.edu	37	chr17	55038341	55038341	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtagctggcggcgggtaatCaaattgaagccgtagcctaa	14	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:55038341C>A	uc002iuu.2	-	1	71	c.40G>T	c.(40-42)GAT>TAT	p.D14Y		NM_004645	NP_004636	P38432	COIL_HUMAN	coilin	14						Cajal body|nucleolus	protein C-terminus binding			ovary(1)	1	Breast(9;6.15e-08)					GGCGGGTAATCAAATTGAAGC	0.587											OREG0024594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	55038341	C	A	55038341	3	1	104	1	0	0	0	0	1	0	0	0	3665	826	29	5	1718	5	COIL	17	55038341	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1240121	55038341	26156869	5708	72322											
DYNLL2	140735	broad.mit.edu	37	chr17	56166549	56166549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggcattgtatcgtgggccGaaattttggcagctacgtca	12	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:56166549G>A	uc010wnn.1	+	3	453	c.179G>A	c.(178-180)CGA>CAA	p.R60Q		NM_080677	NP_542408	Q96FJ2	DYL2_HUMAN	dynein, light chain, LC8-type 2	60					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|microtubule-based process|transport	centrosome|cytosol|dynein complex|microtubule|myosin complex|plasma membrane	motor activity				0						ATCGTGGGCCGAAATTTTGGC	0.433													A	56166549	G	A	56166549	3	1	104	1	0	0	0	0	1	0	0	0	4849	1058	37	1	185	1	DYNLL2	17	56166549	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1128208	56166549	25028661	5709	72323											
OR4D1	26689	broad.mit.edu	37	chr17	56232801	56232801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagacgatctcctaccaggGctgcatggcccagatcttct	9	14	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:56232801G>A	uc010wno.1	+	1	287	c.287G>A	c.(286-288)GGC>GAC	p.G96D	MSX2P1_uc002ivn.2_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TCCTACCAGGGCTGCATGGCC	0.522													A	56232801	G	A	56232801	3	1	104	1	0	0	0	0	1	0	0	0	11053	1203	42	2	289	2	OR4D1	17	56232801	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	66252	56232801	24962409	5710	72324											
OR4D2	124538	broad.mit.edu	37	chr17	56247046	56247046	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaacctcacgtgggtatcAgactttgtcttcctggggct	13	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:56247046A>C	uc010wnp.1	+	1	30	c.30A>C	c.(28-30)TCA>TCC	p.S10S		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D,	10	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						CGTGGGTATCAGACTTTGTCT	0.468													C	56247046	A	C	56247046	2	2	104	1	0	0	0	0	0	0	0	1	11056	175	7	5		5	OR4D2	17	56247046	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	14245	56247046	24948164	5711	72325											
MPO	4353	broad.mit.edu	37	chr17	56348199	56348199	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcgctgctgcatgctgaAcacaccctcgttctcccacc	7	18	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:56348199A>G	uc002ivu.1	-	12	2233	c.2056T>C	c.(2056-2058)TTC>CTC	p.F686L		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	686					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)	TGCATGCTGAACACACCCTCG	0.567													G	56348199	A	G	56348199	3	3	104	1	0	0	0	0	1	0	0	0	9732	43	2	3	185	3	MPO	17	56348199	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	101153	56348199	24847011	5712	72326											
MTMR4	9110	broad.mit.edu	37	chr17	56586131	56586131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagaggtcttcaggcttgGcaggtcttgctgtggctcgg	15	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:56586131G>A	uc002iwj.2	-	6	475	c.365C>T	c.(364-366)GCC>GTC	p.A122V		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	122						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTCAGGCTTGGCAGGTCTTGC	0.592													A	56586131	G	A	56586131	3	1	104	1	0	0	0	0	1	0	0	0	9946	1203	42	2	3278	2	MTMR4	17	56586131	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	237932	56586131	24609079	5713	72327											
SEPT4	5414	broad.mit.edu	37	chr17	56598158	56598158	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctggatctgtccctggtggGacagcagggatggggaagtc	17	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:56598158G>A	uc002iwm.1	-	11	1451	c.1323C>T	c.(1321-1323)GTC>GTT	p.V441V	MTMR4_uc002iwj.2_5'Flank|SEPT4_uc002iwk.1_Silent_p.V294V|SEPT4_uc010wnw.1_Silent_p.V294V|SEPT4_uc002iwl.1_Silent_p.V294V|SEPT4_uc002iwn.1_Silent_p.V342V|SEPT4_uc002iwo.1_Silent_p.V422V|SEPT4_uc002iwp.1_3'UTR|SEPT4_uc010wnx.1_Silent_p.V456V|SEPT4_uc010wny.1_Silent_p.V433V|SEPT4_uc010dcy.1_3'UTR	NM_004574	NP_004565	O43236	SEPT4_HUMAN	septin 4 isoform 1	441					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCCTGGTGGGACAGCAGGGA	0.527											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	56598158	G	A	56598158	2	1	104	1	0	0	0	0	0	0	0	1	14066	1161	41	4		4	SEPT4	17	56598158	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	12027	56598158	24597052	5714	72328											
C17orf47	284083	broad.mit.edu	37	chr17	56620179	56620179	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttaaaaccggacaataaaaGatctagggaaggagagcact	10	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:56620179G>A	uc002iwq.1	-	1	1505	c.1369C>T	c.(1369-1371)CTT>TTT	p.L457F	SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	hypothetical protein LOC284083	457										breast(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GACAATAAAAGATCTAGGGAA	0.478													A	56620179	G	A	56620179	3	1	104	1	0	0	0	0	1	0	0	0	1858	942	33	4	351	4	C17orf47	17	56620179	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	22021	56620179	24575031	5715	72329											
PPM1E	22843	broad.mit.edu	37	chr17	57043102	57043102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtcttcagcaaactacacGagatttgctgcagctgggtg	11	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:57043102G>A	uc002iwx.2	+	3	758	c.631G>A	c.(631-633)GAG>AAG	p.E211K	PPM1E_uc010ddd.2_Intron	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	220					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			CAAACTACACGAGATTTGCTG	0.458													A	57043102	G	A	57043102	3	1	104	1	0	0	0	0	1	0	0	0	12338	1059	37	1	641	1	PPM1E	17	57043102	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	422923	57043102	24152108	5716	72330											
C17orf71	55181	broad.mit.edu	37	chr17	57288596	57288596	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaactttcctttcacattgAcagcagcagttccagttctt	5	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:57288596A>G	uc002ixi.2	+	1	1226	c.1184A>G	c.(1183-1185)GAC>GGC	p.D395G		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	395					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TTTCACATTGACAGCAGCAGT	0.512													G	57288596	A	G	57288596	3	3	104	1	0	0	0	0	1	0	0	0	1878	275	10	3	1186	3	C17orf71	17	57288596	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	245494	57288596	23906614	5717	72331											
C17orf71	55181	broad.mit.edu	37	chr17	57288693	57288693	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttctaagcaagaaaggtttCgatgacagtgtgggcaggaa	14	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:57288693C>T	uc002ixi.2	+	1	1323	c.1281C>T	c.(1279-1281)TTC>TTT	p.F427F		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	427					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					AGAAAGGTTTCGATGACAGTG	0.473													T	57288693	C	T	57288693	2	4	104	1	0	0	0	0	0	0	0	1	1878	883	31	1		1	C17orf71	17	57288693	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	97	57288693	23906517	5718	72332											
GDPD1	284161	broad.mit.edu	37	chr17	57344492	57344492	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttgccctttgtgcccattCgagaacagttttttgaaatc	7	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:57344492C>T	uc002ixk.1	+	7	804	c.667C>T	c.(667-669)CGA>TGA	p.R223*	GDPD1_uc002ixj.2_Nonsense_Mutation_p.R223*	NM_182569	NP_872375	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain	223	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TGTGCCCATTCGAGAACAGTT	0.358													T	57344492	C	T	57344492	4	4	104	1	0	0	0	0	0	1	0	0	6323	876	31	1	693	1	GDPD1	17	57344492	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	55799	57344492	23850718	5719	72333											
CLTC	1213	broad.mit.edu	37	chr17	57760277	57760277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttattctaggtctgcttcGcctgtgtagatgggaaagaa	12	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:57760277G>A	uc002ixq.1	+	24	4218	c.3775G>A	c.(3775-3777)GCC>ACC	p.A1259T	CLTC_uc002ixp.2_Missense_Mutation_p.A1259T|CLTC_uc002ixr.1_Missense_Mutation_p.A1263T	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	1259	Heavy chain arm.|Proximal segment.|Involved in binding clathrin light chain (By similarity).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GGTCTGCTTCGCCTGTGTAGA	0.343			T	ALK|TFE3	ALCL|renal 								A	57760277	G	A	57760277	3	1	104	1	0	0	0	0	1	0	0	0	3566	1087	38	1	3869	1	CLTC	17	57760277	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	415785	57760277	23434933	5720	72334											
PTRH2	51651	broad.mit.edu	37	chr17	57775206	57775206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatctgtgtgtgtcttgctcGtcttgcttttggggagcatc	12	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:57775206G>A	uc002ixt.2	-	2	259	c.134C>T	c.(133-135)ACG>ATG	p.T45M	PTRH2_uc002ixs.2_RNA	NM_016077	NP_057161	Q9Y3E5	PTH2_HUMAN	Bcl-2 inhibitor of transcription precursor	45					apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGTCTTGCTCGTCTTGCTTTT	0.507													A	57775206	G	A	57775206	3	1	104	1	0	0	0	0	1	0	0	0	12817	1145	40	1	409	1	PTRH2	17	57775206	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	14929	57775206	23420004	5721	72335											
TUBD1	51174	broad.mit.edu	37	chr17	57955475	57955475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacaaatacctagtggatttCgtctgtagtgaaatgagctt	10	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:57955475C>T	uc002ixw.1	-	5	1036	c.758G>A	c.(757-759)CGA>CAA	p.R253Q	TUBD1_uc010ddf.1_Missense_Mutation_p.R253Q|TUBD1_uc010ddg.1_Missense_Mutation_p.R218Q|TUBD1_uc010ddh.1_Missense_Mutation_p.R134Q|TUBD1_uc010wok.1_Missense_Mutation_p.R253Q|TUBD1_uc002ixx.1_Missense_Mutation_p.R253Q|TUBD1_uc010wol.1_Missense_Mutation_p.R37Q|TUBD1_uc010ddi.1_Intron	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	delta-tubulin	253					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			TAGTGGATTTCGTCTGTAGTG	0.408													T	57955475	C	T	57955475	3	4	104	1	0	0	0	0	1	0	0	0	16759	884	31	1	623	1	TUBD1	17	57955475	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	180269	57955475	23239735	5722	72336											
HEATR6	63897	broad.mit.edu	37	chr17	58143671	58143671	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agctgaccagtagccataaaGaacttttttttctatcgatt	6	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:58143671G>T	uc002iyk.1	-	9	1332	c.1315C>A	c.(1315-1317)CTT>ATT	p.L439I	HEATR6_uc010ddk.1_5'UTR|HEATR6_uc010wos.1_Missense_Mutation_p.L271I	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	439							binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TAGCCATAAAGAACTTTTTTT	0.388													T	58143671	G	T	58143671	3	4	104	1	0	0	0	0	1	0	0	0	7033	942	33	5	2278	5	HEATR6	17	58143671	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	188196	58143671	23051539	5723	72337											
USP32	84669	broad.mit.edu	37	chr17	58258686	58258686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catataataaaccacttaccGaaattgcatatagattataa	3	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:58258686G>A	uc002iyo.1	-	32	4833	c.4547C>T	c.(4546-4548)TCG>TTG	p.S1516L	USP32_uc002iyn.1_Missense_Mutation_p.S1186L	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	1516					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ACCACTTACCGAAATTGCATA	0.363													A	58258686	G	A	58258686	3	1	104	1	0	0	0	0	1	0	0	0	17060	1072	37	1	279	1	USP32	17	58258686	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	115015	58258686	22936524	5724	72338											
USP32	84669	broad.mit.edu	37	chr17	58260766	58260766	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatttgacaattttctgtgAttttatccaccgaccattta	4	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:58260766A>G	uc002iyo.1	-	31	4169	c.3883T>C	c.(3883-3885)TCA>CCA	p.S1295P	USP32_uc002iyn.1_Missense_Mutation_p.S965P	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	1295					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATTTTCTGTGATTTTATCCAC	0.398													G	58260766	A	G	58260766	3	3	104	1	0	0	0	0	1	0	0	0	17060	333	12	3	947	3	USP32	17	58260766	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2080	58260766	22934444	5725	72339											
USP32	84669	broad.mit.edu	37	chr17	58346875	58346875	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggatatctccttaaaAtctatgtgattgtcacgatt	6	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:58346875A>C	uc002iyo.1	-	7	1033	c.747T>G	c.(745-747)GAT>GAG	p.D249E	USP32_uc010wov.1_Missense_Mutation_p.D249E	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	249	EF-hand 2.|1 (Potential).				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCTCCTTAAAATCTATGTGAT	0.363													C	58346875	A	C	58346875	3	2	104	1	0	0	0	0	1	0	0	0	17060	98	4	5	4179	5	USP32	17	58346875	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	86109	58346875	22848335	5726	72340											
PPM1D	8493	broad.mit.edu	37	chr17	58740750	58740750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgatgaagaagcatagacGaaatggcttaagtcgaagta	11	6	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:58740750G>A	uc002iyt.1	+	6	1877	c.1655G>A	c.(1654-1656)CGA>CAA	p.R552Q	PPM1D_uc010ddm.1_RNA	NM_003620	NP_003611	O15297	PPM1D_HUMAN	protein phosphatase 1D	552					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			upper_aerodigestive_tract(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			AAGCATAGACGAAATGGCTTA	0.468											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	A	58740750	G	A	58740750	3	1	104	1	0	0	0	0	1	0	0	0	12337	1058	37	1	1677	1	PPM1D	17	58740750	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	393875	58740750	22454460	5727	72341											
TBX2	6909	broad.mit.edu	37	chr17	59479294	59479294	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgaagctgaccaacaacatCtctgacaagcacggcttcgt	8	13	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:59479294C>T	uc010wox.1	+	2	926	c.645C>T	c.(643-645)ATC>ATT	p.I215I	TBX2_uc002ize.2_Silent_p.I205I|TBX2_uc002izg.2_Silent_p.I61I	NM_005994	NP_005985	Q13207	TBX2_HUMAN	T-box 2	215	T-box.				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding				0						CCAACAACATCTCTGACAAGC	0.612													T	59479294	C	T	59479294	2	4	104	1	0	0	0	0	0	0	0	1	15652	903	32	4		4	TBX2	17	59479294	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	738544	59479294	21715916	5728	72342											
C17orf82	388407	broad.mit.edu	37	chr17	59489455	59489455	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccccctccttcgctgTccttggccccgaggtgcgga	10	18	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:59489455T>C	uc002izh.1	+	1	344	c.119T>C	c.(118-120)GTC>GCC	p.V40A		NM_203425	NP_982249	Q86X59	CQ082_HUMAN	hypothetical protein LOC388407	40											0						TCCTTCGCTGTCCTTGGCCCC	0.697											OREG0024630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	59489455	T	C	59489455	3	2	104	1	0	0	0	0	1	0	0	0	1887	1667	58	3	121	3	C17orf82	17	59489455	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	10161	59489455	21705755	5729	72343											
BRIP1	83990	broad.mit.edu	37	chr17	59763410	59763410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcctgtatattggttctgtCctttatggatacattaagaa	8	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:59763410C>T	uc002izk.1	-	19	2833	c.2692G>A	c.(2692-2694)GAC>AAC	p.D898N	BRIP1_uc002izl.1_Missense_Mutation_p.D279N	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	898	Interaction with BRCA1.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(1)	1						TTGGTTCTGTCCTTTATGGAT	0.398			F|N|Mis			AML|leukemia|breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				T	59763410	C	T	59763410	3	4	104	1	0	0	0	0	1	0	0	0	1514	855	30	4	1065	4	BRIP1	17	59763410	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	273955	59763410	21431800	5730	72344											
INTS2	57508	broad.mit.edu	37	chr17	59945352	59945352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggcataaaaaaagcatacCgcttagcctgtgttaaaact	7	8	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:59945352C>T	uc002izn.2	-	24	3363	c.3287G>A	c.(3286-3288)CGG>CAG	p.R1096Q	INTS2_uc002izm.2_Missense_Mutation_p.R1088Q	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1096					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3						AAAAGCATACCGCTTAGCCTG	0.338													T	59945352	C	T	59945352	3	4	104	1	0	0	0	0	1	0	0	0	7778	652	23	1	335	1	INTS2	17	59945352	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	181942	59945352	21249858	5731	72345											
MED13	9969	broad.mit.edu	37	chr17	60038340	60038340	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taaacagtatcccacaaaaaGaacattatatttctgtccag	4	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:60038340G>T	uc002izo.2	-	23	5445	c.5368C>A	c.(5368-5370)CTT>ATT	p.L1790I		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1790					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						CCCACAAAAAGAACATTATAT	0.373													T	60038340	G	T	60038340	3	4	104	1	0	0	0	0	1	0	0	0	9430	942	33	5	1188	5	MED13	17	60038340	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	92988	60038340	21156870	5732	72346											
MED13	9969	broad.mit.edu	37	chr17	60042387	60042387	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcagacacatcaggatgCggctgagtgggaagtgaaga	14	7	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:60042387C>T	uc002izo.2	-	20	4901	c.4824G>A	c.(4822-4824)CCG>CCA	p.P1608P		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1608					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						CATCAGGATGCGGCTGAGTGG	0.363													T	60042387	C	T	60042387	2	4	104	1	0	0	0	0	0	0	0	1	9430	755	27	1		1	MED13	17	60042387	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4047	60042387	21152823	5733	72347											
EFCAB3	146779	broad.mit.edu	37	chr17	60484019	60484019	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaaggatttatttaaatttCttgaagagctcaagagtaag	8	3	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:60484019C>A	uc002izu.1	+	7	745	c.667C>A	c.(667-669)CTT>ATT	p.L223I	EFCAB3_uc010wpc.1_Missense_Mutation_p.L275I	NM_173503	NP_775774	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3 isoform b	223							calcium ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			ATTTAAATTTCTTGAAGAGCT	0.393													A	60484019	C	A	60484019	3	1	104	1	0	0	0	0	1	0	0	0	4935	913	32	5	857	5	EFCAB3	17	60484019	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	441632	60484019	20711191	5734	72348											
MRC2	9902	broad.mit.edu	37	chr17	60741967	60741967	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcctggaggcccagggCgggcaggtcagagtcacccc	17	14	2	1	rs146205886		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:60741967C>T	uc002jad.2	+	2	579	c.177C>T	c.(175-177)GGC>GGT	p.G59G	MRC2_uc002jac.2_Silent_p.G59G	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	59	Extracellular (Potential).|Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						AGGCCCAGGGCGGGCAGGTCA	0.617													T	60741967	C	T	60741967	2	4	104	1	0	0	0	0	0	0	0	1	9758	755	27	1		1	MRC2	17	60741967	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	257948	60741967	20453243	5735	72349											
TANC2	26115	broad.mit.edu	37	chr17	61278268	61278268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggactgcagctatggggCtgttactagtccaacctcta	10	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:61278268C>T	uc002jal.3	+	5	520	c.497C>T	c.(496-498)GCT>GTT	p.A166V	TANC2_uc010wpe.1_Missense_Mutation_p.A76V	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	166							binding			ovary(2)	2						AGCTATGGGGCTGTTACTAGT	0.458													T	61278268	C	T	61278268	3	4	104	1	0	0	0	0	1	0	0	0	15542	797	28	2	515	2	TANC2	17	61278268	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	536301	61278268	19916942	5736	72350											
TANC2	26115	broad.mit.edu	37	chr17	61466084	61466084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtctttccatggcactggCgtctttacgaaatctctaca	8	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:61466084C>T	uc002jal.3	+	14	2581	c.2558C>T	c.(2557-2559)GCG>GTG	p.A853V	TANC2_uc010wpe.1_Missense_Mutation_p.A763V|TANC2_uc002jan.1_Missense_Mutation_p.A4V|TANC2_uc002jao.3_5'Flank|TANC2_uc002jam.1_Missense_Mutation_p.A220V	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	853	ANK 1.						binding			ovary(2)	2						ATGGCACTGGCGTCTTTACGA	0.333													T	61466084	C	T	61466084	3	4	104	1	0	0	0	0	1	0	0	0	15542	768	27	1	2612	1	TANC2	17	61466084	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	187816	61466084	19729126	5737	72351											
TACO1	51204	broad.mit.edu	37	chr17	61684818	61684818	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagaagaaaggaacgtTtttaaagtaagcatgaaaac	10	3	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:61684818T>G	uc002jbd.2	+	4	887	c.687T>G	c.(685-687)GTT>GTG	p.V229V		NM_016360	NP_057444	Q9BSH4	TACO1_HUMAN	translational activator of mitochondrially	229					regulation of translation	mitochondrion					0						AAAGGAACGTTTTTAAAGTAA	0.488													G	61684818	T	G	61684818	2	3	104	1	0	0	0	0	0	0	0	1	15501	1828	64	5		5	TACO1	17	61684818	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	218734	61684818	19510392	5738	72352											
FTSJ3	117246	broad.mit.edu	37	chr17	61902505	61902505	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagaatttactgtcaaccTtgtcaggggccaggaatcct	9	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:61902505T>G	uc002jbz.2	-	7	692	c.614A>C	c.(613-615)AAG>ACG	p.K205T	FTSJ3_uc002jca.2_Missense_Mutation_p.K205T|PSMC5_uc002jcb.2_5'Flank|PSMC5_uc010ddy.2_5'Flank|PSMC5_uc010ddz.2_5'Flank|PSMC5_uc002jcc.2_5'Flank|PSMC5_uc002jcd.2_5'Flank	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	205					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						ACTGTCAACCTTGTCAGGGGC	0.428													G	61902505	T	G	61902505	3	3	104	1	0	0	0	0	1	0	0	0	6089	1609	56	5	1985	5	FTSJ3	17	61902505	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	217687	61902505	19292705	5739	72353											
LRRC37A3	374819	broad.mit.edu	37	chr17	62892249	62892249	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggtctcctgctgggtcggaGaagattcgacctccctagaa	13	11	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:62892249G>T	uc002jey.2	-	3	1658	c.1127C>A	c.(1126-1128)TCT>TAT	p.S376Y	LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	376	Extracellular (Potential).					integral to membrane					0						CTGGGTCGGAGAAGATTCGAC	0.517													T	62892249	G	T	62892249	3	4	104	1	0	0	0	0	1	0	0	0	8993	942	33	5	3825	5	LRRC37A3	17	62892249	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	989744	62892249	18302961	5740	72354											
RGS9	8787	broad.mit.edu	37	chr17	63206625	63206625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccaccctcccttttatgCggcgtcacctgcgctccagc	8	19	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:63206625C>T	uc002jfe.2	+	17	1419	c.1309C>T	c.(1309-1311)CGG>TGG	p.R437W	RGS9_uc010dem.2_Missense_Mutation_p.R434W|RGS9_uc002jfd.2_Missense_Mutation_p.R434W|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.R208W	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	437					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4						CCCTTTTATGCGGCGTCACCT	0.572													T	63206625	C	T	63206625	3	4	104	1	0	0	0	0	1	0	0	0	13313	759	27	1	1375	1	RGS9	17	63206625	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	314376	63206625	17988585	5741	72355											
CCDC46	201134	broad.mit.edu	37	chr17	63685267	63685267	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgttcctgtgactccaattCtttgtgttgtaattttttct	6	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:63685267C>A	uc002jfl.2	-	24	2896	c.2677G>T	c.(2677-2679)GAA>TAA	p.E893*	CCDC46_uc010deo.2_Nonsense_Mutation_p.E564*|CCDC46_uc002jfm.2_Nonsense_Mutation_p.E893*|CCDC46_uc010dep.2_Nonsense_Mutation_p.E851*|CCDC46_uc002jfk.2_Nonsense_Mutation_p.E149*	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	coiled-coil domain containing 46 isoform a	893	Potential.					centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)			GACTCCAATTCTTTGTGTTGT	0.323													A	63685267	C	A	63685267	4	1	104	1	0	0	0	0	0	1	0	0	2817	922	32	5	206	5	CCDC46	17	63685267	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	478642	63685267	17509943	5742	72356											
APOH	350	broad.mit.edu	37	chr17	64210746	64210746	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtacaccacagtggctttTttcacaggtactttacaaga	8	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:64210746T>G	uc002jfn.3	-	7	866	c.807A>C	c.(805-807)AAA>AAC	p.K269N		NM_000042	NP_000033	P02749	APOH_HUMAN	apolipoprotein H precursor	269	Sushi-like.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding				0			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CAGTGGCTTTTTTCACAGGTA	0.353													G	64210746	T	G	64210746	3	3	104	1	0	0	0	0	1	0	0	0	804	1838	64	5	238	5	APOH	17	64210746	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	525479	64210746	16984464	5743	72357											
PRKCA	5578	broad.mit.edu	37	chr17	64641554	64641554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgtccccagcctctgcGgaatggatcacactgagaag	10	12	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:64641554G>A	uc002jfp.1	+	5	498	c.454G>A	c.(454-456)GGA>AGA	p.G152R	PRKCA_uc002jfo.1_Missense_Mutation_p.G23R	NM_002737	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	152					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CAGCCTCTGCGGAATGGATCA	0.522													A	64641554	G	A	64641554	3	1	104	1	0	0	0	0	1	0	0	0	12507	1117	39	1	472	1	PRKCA	17	64641554	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	430808	64641554	16553656	5744	72358											
CACNG5	27091	broad.mit.edu	37	chr17	64881136	64881136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtacctgtttatgaagCggtacaccgcggaggacatg	13	9	0	1	rs142426129	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:64881136C>T	uc010wqi.1	+	6	844	c.607C>T	c.(607-609)CGG>TGG	p.R203W	CACNG5_uc010wqj.1_Missense_Mutation_p.R203W	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	203				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GTTTATGAAGCGGTACACCGC	0.612													T	64881136	C	T	64881136	3	4	104	1	0	0	0	0	1	0	0	0	2560	759	27	1	942	1	CACNG5	17	64881136	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	239582	64881136	16314074	5745	72359											
HELZ	9931	broad.mit.edu	37	chr17	65132142	65132142	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaccacagcaaccagggaTtgtgctcttgtgatggcagt	11	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:65132142T>G	uc010wqk.1	-	23	3316	c.3129A>C	c.(3127-3129)CAA>CAC	p.Q1043H	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.Q1042H	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CAACCAGGGATTGTGCTCTTG	0.398													G	65132142	T	G	65132142	3	3	104	1	0	0	0	0	1	0	0	0	7049	1490	52	5	2746	5	HELZ	17	65132142	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	251006	65132142	16063068	5746	72360											
BPTF	2186	broad.mit.edu	37	chr17	65899998	65899998	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagaaacgatgcagcaagcGacatgggtaaaatacacatt	10	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:65899998G>A	uc002jgf.2	+	8	2698	c.2637G>A	c.(2635-2637)GCG>GCA	p.A879A	BPTF_uc002jge.2_Silent_p.A1005A|BPTF_uc010wqm.1_Silent_p.A942A	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1005	Potential.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGCAGCAAGCGACATGGGTAA	0.249													A	65899998	G	A	65899998	2	1	104	1	0	0	0	0	0	0	0	1	1495	1045	37	1		1	BPTF	17	65899998	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	767856	65899998	15295212	5747	72361											
BPTF	2186	broad.mit.edu	37	chr17	65908574	65908574	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcatcttgtccagaaaGcaattcagttaatcaggtag	8	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:65908574G>T	uc002jgf.2	+	11	4635	c.4574G>T	c.(4573-4575)AGC>ATC	p.S1525I	BPTF_uc002jge.2_Missense_Mutation_p.S1651I	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1651					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTCCAGAAAGCAATTCAGTT	0.418													T	65908574	G	T	65908574	3	4	104	1	0	0	0	0	1	0	0	0	1495	971	34	5	5002	5	BPTF	17	65908574	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	8576	65908574	15286636	5748	72362											
KPNA2	3838	broad.mit.edu	37	chr17	66033597	66033597	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacttctccgctgcaggaaAaccgcaacaaccaggtaaaa	7	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:66033597A>C	uc002jgk.2	+	3	331	c.199A>C	c.(199-201)AAC>CAC	p.N67H	KPNA2_uc002jgl.2_Missense_Mutation_p.N67H	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	67					DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			central_nervous_system(2)	2	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCTGCAGGAAAACCGCAACAA	0.388													C	66033597	A	C	66033597	3	2	104	1	0	0	0	0	1	0	0	0	8430	14	1	5	205	5	KPNA2	17	66033597	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	125023	66033597	15161613	5749	72363											
KPNA2	3838	broad.mit.edu	37	chr17	66038403	66038403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccatcccagcattcattTctctgttggcatctccccat	6	15	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:66038403T>C	uc002jgk.2	+	5	637	c.505T>C	c.(505-507)TCT>CCT	p.S169P	KPNA2_uc002jgl.2_Missense_Mutation_p.S169P	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	169	NLS binding site (major) (By similarity).|ARM 3.				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			central_nervous_system(2)	2	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGCATTCATTTCTCTGTTGGC	0.463													C	66038403	T	C	66038403	3	2	104	1	0	0	0	0	1	0	0	0	8430	1783	62	3	519	3	KPNA2	17	66038403	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	4806	66038403	15156807	5750	72364											
AMZ2	51321	broad.mit.edu	37	chr17	66251928	66251928	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaggctccaaccacttggaaGaagctgaccggcgccctcta	10	14	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:66251928G>T	uc002jgs.1	+	7	955	c.838G>T	c.(838-840)GAA>TAA	p.E280*	AMZ2_uc002jgr.1_Nonsense_Mutation_p.E280*|AMZ2_uc002jgt.1_Nonsense_Mutation_p.E280*|AMZ2_uc002jgu.1_Nonsense_Mutation_p.E280*|AMZ2_uc002jgv.1_Nonsense_Mutation_p.E280*|AMZ2_uc002jgw.1_Nonsense_Mutation_p.E222*|AMZ2_uc002jgy.1_Nonsense_Mutation_p.E280*	NM_001033572	NP_001028744	Q86W34	AMZ2_HUMAN	archaemetzincins-2 isoform 1	280							metallopeptidase activity|zinc ion binding				0	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCACTTGGAAGAAGCTGACCG	0.493													T	66251928	G	T	66251928	4	4	104	1	0	0	0	0	0	1	0	0	597	943	33	5	856	5	AMZ2	17	66251928	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	213525	66251928	14943282	5751	72365											
SLC16A6	9120	broad.mit.edu	37	chr17	66267060	66267060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagacatcttctcaatgCccacgacatcatcctcagca	5	15	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:66267060C>T	uc002jgz.1	-	5	1429	c.1241G>A	c.(1240-1242)GGC>GAC	p.G414D	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Missense_Mutation_p.G414D	NM_004694	NP_004685	O15403	MOT7_HUMAN	solute carrier family 16, member 6	414	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity				0	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTTCTCAATGCCCACGACATC	0.458													T	66267060	C	T	66267060	3	4	104	1	0	0	0	0	1	0	0	0	14412	739	26	2	338	2	SLC16A6	17	66267060	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	15132	66267060	14928150	5752	72366											
ABCA8	10351	broad.mit.edu	37	chr17	66913584	66913584	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcccttgggagagaaataCtttcctgtctgaaaaagaag	9	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:66913584C>A	uc002jhp.2	-	15	2115	c.1936G>T	c.(1936-1938)GTA>TTA	p.V646L	ABCA8_uc002jhq.2_Missense_Mutation_p.V686L|ABCA8_uc010wqq.1_Missense_Mutation_p.V686L|ABCA8_uc010wqr.1_Missense_Mutation_p.V625L|ABCA8_uc002jhr.2_Missense_Mutation_p.V686L	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	646	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					GAGAGAAATACTTTCCTGTCT	0.378													A	66913584	C	A	66913584	3	1	104	1	0	0	0	0	1	0	0	0	38	565	20	5	2905	5	ABCA8	17	66913584	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	646524	66913584	14281626	5753	72367											
ABCA8	10351	broad.mit.edu	37	chr17	66925729	66925729	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatccatacaggagaaagagGctgaagactaccatgaagcc	10	9	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:66925729G>A	uc002jhp.2	-	7	1091	c.912C>T	c.(910-912)AGC>AGT	p.S304S	ABCA8_uc002jhq.2_Silent_p.S304S|ABCA8_uc010wqq.1_Silent_p.S304S|ABCA8_uc010wqr.1_Silent_p.S243S|ABCA8_uc002jhr.2_Silent_p.S304S	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	304	Helical; (Potential).					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					GGAGAAAGAGGCTGAAGACTA	0.378													A	66925729	G	A	66925729	2	1	104	1	0	0	0	0	0	0	0	1	38	1194	42	2		2	ABCA8	17	66925729	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	12145	66925729	14269481	5754	72368											
ABCA9	10350	broad.mit.edu	37	chr17	67016572	67016572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttctttaactttaggaagcGaacttttgctattgcacaga	7	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:67016572G>A	uc002jhu.2	-	19	2700	c.2557C>T	c.(2557-2559)CGC>TGC	p.R853C	ABCA9_uc010dez.2_Missense_Mutation_p.R853C	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	853					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					TTTAGGAAGCGAACTTTTGCT	0.398													A	67016572	G	A	67016572	3	1	104	1	0	0	0	0	1	0	0	0	39	1058	37	1	2401	1	ABCA9	17	67016572	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	90843	67016572	14178638	5755	72369											
ABCA6	23460	broad.mit.edu	37	chr17	67083602	67083602	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttggcttagcatctctactTtggggggaaattctatggag	12	6	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:67083602T>G	uc002jhw.1	-	29	3886	c.3711A>C	c.(3709-3711)CAA>CAC	p.Q1237H		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	1237					transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					CATCTCTACTTTGGGGGGAAA	0.368													G	67083602	T	G	67083602	3	3	104	1	0	0	0	0	1	0	0	0	36	1838	64	5	1186	5	ABCA6	17	67083602	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	67030	67083602	14111608	5756	72370											
ABCA6	23460	broad.mit.edu	37	chr17	67084326	67084326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctgaaaacaggatcttttCgcattcttttctttccacat	4	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:67084326C>T	uc002jhw.1	-	28	3855	c.3680G>A	c.(3679-3681)CGA>CAA	p.R1227Q		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	1227					transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					AGGATCTTTTCGCATTCTTTT	0.318													T	67084326	C	T	67084326	3	4	104	1	0	0	0	0	1	0	0	0	36	884	31	1	1221	1	ABCA6	17	67084326	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	724	67084326	14110884	5757	72371											
ABCA6	23460	broad.mit.edu	37	chr17	67101676	67101676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagagagaaaatacaattcGtttttaaattcccaatcgat	7	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:67101676G>A	uc002jhw.1	-	20	2842	c.2667C>T	c.(2665-2667)AAC>AAT	p.N889N	ABCA6_uc002jhx.1_3'UTR	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	889					transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					AATACAATTCGTTTTTAAATT	0.328													A	67101676	G	A	67101676	2	1	104	1	0	0	0	0	0	0	0	1	36	1136	40	1		1	ABCA6	17	67101676	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	17350	67101676	14093534	5758	72372											
ABCA6	23460	broad.mit.edu	37	chr17	67103843	67103843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaaatggctttaccttgttCgatagttgactgtccttcca	7	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:67103843C>T	uc002jhw.1	-	18	2558	c.2383G>A	c.(2383-2385)GAA>AAA	p.E795K	ABCA6_uc002jhx.1_Missense_Mutation_p.E248K	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	795					transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					TTACCTTGTTCGATAGTTGAC	0.353													T	67103843	C	T	67103843	3	4	104	1	0	0	0	0	1	0	0	0	36	893	31	1	2558	1	ABCA6	17	67103843	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2167	67103843	14091367	5759	72373											
ABCA6	23460	broad.mit.edu	37	chr17	67119483	67119483	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aataaccttagcattagtccTttggtgttggaaacaagatg	9	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:67119483T>G	uc002jhw.1	-	10	1508	c.1333A>C	c.(1333-1335)AGG>CGG	p.R445R		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	445					transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					GCATTAGTCCTTTGGTGTTGG	0.368													G	67119483	T	G	67119483	2	3	104	1	0	0	0	0	0	0	0	1	36	1608	56	5		5	ABCA6	17	67119483	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	15640	67119483	14075727	5760	72374											
ABCA6	23460	broad.mit.edu	37	chr17	67130778	67130778	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacttttcaatcaagcacttActtctataatggcagtatta	4	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:67130778A>G	uc002jhw.1	-	5	739	c.564_splice	c.e5+1	p.E188_splice		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6						transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					TCAAGCACTTACTTCTATAAT	0.303													G	67130778	A	G	67130778	5	3	104	1	0	0	0	0	0	0	1	0	36	405	14	3	4427	3	ABCA6	17	67130778	Splice_Site	SNP	A	TCGA-BR-8680-01A-11D-2394-08	11295	67130778	14064432	5761	72375											
ABCA10	10349	broad.mit.edu	37	chr17	67187325	67187325	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtaagttacctggaaatTtgttcgttttttccaaaggc	8	7	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:67187325T>G	uc010dfa.1	-	18	2882	c.2003A>C	c.(2002-2004)AAA>ACA	p.K668T	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.K269T	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	668					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					ACCTGGAAATTTGTTCGTTTT	0.343													G	67187325	T	G	67187325	3	3	104	1	0	0	0	0	1	0	0	0	29	1841	64	5	2720	5	ABCA10	17	67187325	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	56547	67187325	14007885	5762	72376											
ABCA5	23461	broad.mit.edu	37	chr17	67246653	67246653	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgggaaaatatactgaatttCtctttgaaggcggtctactt	9	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:67246653C>A	uc002jif.2	-	35	5863	c.4645G>T	c.(4645-4647)GAA>TAA	p.E1549*	ABCA5_uc002jib.2_Nonsense_Mutation_p.E515*|ABCA5_uc002jic.2_Nonsense_Mutation_p.E772*|ABCA5_uc002jid.2_Nonsense_Mutation_p.E466*|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Nonsense_Mutation_p.E1549*	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	1549					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					TACTGAATTTCTCTTTGAAGG	0.308													A	67246653	C	A	67246653	4	1	104	1	0	0	0	0	0	1	0	0	35	922	32	5	299	5	ABCA5	17	67246653	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	59328	67246653	13948557	5763	72377											
ABCA5	23461	broad.mit.edu	37	chr17	67305533	67305533	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agactggatgttaacatttcTttttcatttgtatattcttc	5	6	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:67305533T>G	uc002jif.2	-	3	1557	c.339A>C	c.(337-339)AAA>AAC	p.K113N	ABCA5_uc002jig.2_Missense_Mutation_p.K113N|ABCA5_uc002jih.2_Missense_Mutation_p.K113N|ABCA5_uc010dfe.2_Missense_Mutation_p.K113N	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	113					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					TTAACATTTCTTTTTCATTTG	0.318													G	67305533	T	G	67305533	3	3	104	1	0	0	0	0	1	0	0	0	35	1606	56	5	4733	5	ABCA5	17	67305533	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	58880	67305533	13889677	5764	72378											
COG1	9382	broad.mit.edu	37	chr17	71197534	71197534	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttctgttctgccctggattCtaagctgaaggttaaactag	9	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:71197534C>A	uc002jjg.2	+	7	1604	c.1568C>A	c.(1567-1569)TCT>TAT	p.S523Y	COG1_uc002jjh.2_Missense_Mutation_p.S523Y|COG1_uc002jjf.1_Missense_Mutation_p.S523Y	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	523					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)			GCCCTGGATTCTAAGCTGAAG	0.537													A	71197534	C	A	71197534	3	1	104	1	0	0	0	0	1	0	0	0	3657	913	32	5	1594	5	COG1	17	71197534	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3892001	71197534	9997676	5765	72379											
C17orf80	55028	broad.mit.edu	37	chr17	71232871	71232871	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttatctctggagcccaaatCtgatagtcagttccaagcat	8	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:71232871C>T	uc002jjm.3	+	3	1444	c.1250C>T	c.(1249-1251)TCT>TTT	p.S417F	C17orf80_uc010wqu.1_Missense_Mutation_p.S417F|C17orf80_uc010dfj.2_Missense_Mutation_p.S417F|C17orf80_uc002jjk.1_Missense_Mutation_p.S417F|C17orf80_uc002jjl.3_Missense_Mutation_p.S417F	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	lung cancer-related protein 8 isoform a	417	Extracellular (Potential).					integral to membrane				skin(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)			GAGCCCAAATCTGATAGTCAG	0.498													T	71232871	C	T	71232871	3	4	104	1	0	0	0	0	1	0	0	0	1885	913	32	4	1252	4	C17orf80	17	71232871	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	35337	71232871	9962339	5766	72380											
GPRC5C	55890	broad.mit.edu	37	chr17	72436249	72436249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgcctgtgtggtgaagcccGacttctccacctgtgcctct	10	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:72436249G>A	uc002jks.2	+	1	373	c.334G>A	c.(334-336)GAC>AAC	p.D112N	GPRC5C_uc002jkp.2_Missense_Mutation_p.D157N|GPRC5C_uc002jkq.2_Intron|GPRC5C_uc002jkr.2_Missense_Mutation_p.D124N|GPRC5C_uc002jkt.2_Missense_Mutation_p.D112N|GPRC5C_uc002jku.2_5'Flank	NM_018653	NP_061123	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor family C, group 5,	112	Extracellular (Potential).					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1)	5						GGTGAAGCCCGACTTCTCCAC	0.597													A	72436249	G	A	72436249	3	1	104	1	0	0	0	0	1	0	0	0	6726	1058	37	1	483	1	GPRC5C	17	72436249	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1203378	72436249	8758961	5767	72381											
CD300LB	124599	broad.mit.edu	37	chr17	72521955	72521955	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcaatcccacaccagtaaAcatctgcgtcatctcgcctg	5	15	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:72521955A>G	uc002jkx.2	-	2	426	c.413T>C	c.(412-414)GTT>GCT	p.V138A	CD300LB_uc010wqz.1_Missense_Mutation_p.V138A	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	101	Ig-like V-type.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)	1						ACACCAGTAAACATCTGCGTC	0.512													G	72521955	A	G	72521955	3	3	104	1	0	0	0	0	1	0	0	0	2999	43	2	3	315	3	CD300LB	17	72521955	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	85706	72521955	8673255	5768	72382											
C17orf77	146723	broad.mit.edu	37	chr17	72588512	72588512	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttacatattaggagaaaaGaggtgtcattctttgaaaag	9	3	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:72588512G>A	uc002jla.1	+	3	689	c.327G>A	c.(325-327)AAG>AAA	p.K109K	CD300LD_uc002jkz.2_5'Flank	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	hypothetical protein LOC146723	109						extracellular region					0						TAGGAGAAAAGAGGTGTCATT	0.428													A	72588512	G	A	72588512	2	1	104	1	0	0	0	0	0	0	0	1	1882	933	33	4		4	C17orf77	17	72588512	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	66557	72588512	8606698	5769	72383											
RAB37	326624	broad.mit.edu	37	chr17	72737009	72737009	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcatagccaccgtcggcataGacttcagggtgaggtggctg	14	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:72737009G>T	uc002jlk.2	+	2	252	c.196G>T	c.(196-198)GAC>TAC	p.D66Y	RAB37_uc002jlc.2_Intron|RAB37_uc010dfu.2_Intron|RAB37_uc002jld.2_Intron|RAB37_uc010wrb.1_Missense_Mutation_p.D34Y|RAB37_uc010wrc.1_Missense_Mutation_p.D71Y|RAB37_uc010wrd.1_Intron|RAB37_uc010wre.1_Intron|RAB37_uc002jll.3_RNA	NM_001006638	NP_001006639	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family isoform 2	66	Effector region (By similarity).				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			ovary(1)	1						CGTCGGCATAGACTTCAGGGT	0.602													T	72737009	G	T	72737009	3	4	104	1	0	0	0	0	1	0	0	0	12927	942	33	5	505	5	RAB37	17	72737009	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	148497	72737009	8458201	5770	72384											
OTOP3	347741	broad.mit.edu	37	chr17	72939782	72939782	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactccatgcaccgagagatCgaagctgagcttggcatcct	11	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:72939782C>T	uc010wrr.1	+	5	768	c.768C>T	c.(766-768)ATC>ATT	p.I256I	OTOP3_uc010wrq.1_Silent_p.I238I	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	256						integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)					ACCGAGAGATCGAAGCTGAGC	0.473													T	72939782	C	T	72939782	2	4	104	1	0	0	0	0	0	0	0	1	11307	874	31	1		1	OTOP3	17	72939782	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	202773	72939782	8255428	5771	72385											
C17orf28	283987	broad.mit.edu	37	chr17	72947703	72947703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaacagcttcacgtcggtgtCgtaccagacaggggggtcca	13	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:72947703C>T	uc002jmj.3	-	19	2478	c.2329G>A	c.(2329-2331)GAC>AAC	p.D777N	C17orf28_uc002jmi.2_Missense_Mutation_p.D179N|C17orf28_uc010wrs.1_Missense_Mutation_p.D576N	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	hypothetical protein LOC283987	777						integral to membrane|plasma membrane	protein binding				0	all_lung(278;0.151)|Lung NSC(278;0.185)					ACGTCGGTGTCGTACCAGACA	0.622													T	72947703	C	T	72947703	3	4	104	1	0	0	0	0	1	0	0	0	1853	884	31	1	41	1	C17orf28	17	72947703	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7921	72947703	8247507	5772	72386											
ACOX1	51	broad.mit.edu	37	chr17	73944437	73944437	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcacatcctgaaaatcAaatgcatcaaccaaagcaac	5	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:73944437A>G	uc002jqf.2	-	13	2120	c.1830T>C	c.(1828-1830)TTT>TTC	p.F610F	ACOX1_uc010wsq.1_Silent_p.F572F|ACOX1_uc002jqe.2_Silent_p.F610F|ACOX1_uc010wsr.1_Silent_p.F542F	NM_007292	NP_009223	Q15067	ACOX1_HUMAN	acyl-Coenzyme A oxidase 1 isoform b	610					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			ovary(1)	1						CCTGAAAATCAAATGCATCAA	0.453													G	73944437	A	G	73944437	2	3	104	1	0	0	0	0	0	0	0	1	158	127	5	3		3	ACOX1	17	73944437	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	996734	73944437	7250773	5773	72387											
ACOX1	51	broad.mit.edu	37	chr17	73951988	73951988	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tagcatttccccttagtgatGagctgggcaagaactattgc	10	9	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:73951988G>A	uc002jqf.2	-	5	869	c.579C>T	c.(577-579)CTC>CTT	p.L193L	ACOX1_uc010wsq.1_Silent_p.L155L|ACOX1_uc002jqe.2_Silent_p.L193L|ACOX1_uc010wsr.1_Silent_p.L125L	NM_007292	NP_009223	Q15067	ACOX1_HUMAN	acyl-Coenzyme A oxidase 1 isoform b	193					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			ovary(1)	1						CCTTAGTGATGAGCTGGGCAA	0.418													A	73951988	G	A	73951988	2	1	104	1	0	0	0	0	0	0	0	1	158	1277	45	4		4	ACOX1	17	73951988	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	7551	73951988	7243222	5774	72388											
EXOC7	23265	broad.mit.edu	37	chr17	74090528	74090528	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggcttcttggtaggtgtgtCtttcctcttgttggggatag	14	6	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:74090528C>A	uc002jqs.2	-	6	870	c.775G>T	c.(775-777)GAC>TAC	p.D259Y	EXOC7_uc010dgv.1_Missense_Mutation_p.D206Y|EXOC7_uc002jqq.2_Missense_Mutation_p.D259Y|EXOC7_uc010wsw.1_Missense_Mutation_p.D259Y|EXOC7_uc010wsx.1_Missense_Mutation_p.D259Y|EXOC7_uc002jqr.2_Missense_Mutation_p.D259Y|EXOC7_uc010wsv.1_Missense_Mutation_p.D218Y|EXOC7_uc002jqu.2_Missense_Mutation_p.D259Y	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	259					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			GTAGGTGTGTCTTTCCTCTTG	0.562													A	74090528	C	A	74090528	3	1	104	1	0	0	0	0	1	0	0	0	5310	913	32	5	1492	5	EXOC7	17	74090528	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	138540	74090528	7104682	5775	72389											
MFSD11	79157	broad.mit.edu	37	chr17	74772498	74772498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcttcagcaaagaagttGccattctctgcagttttctg	7	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:74772498G>A	uc002jta.2	+	13	2033	c.1060G>A	c.(1060-1062)GCC>ACC	p.A354T	MFSD11_uc002jtb.2_Missense_Mutation_p.A354T|MFSD11_uc010dha.2_Missense_Mutation_p.A302T|MFSD11_uc002jtc.2_Missense_Mutation_p.A354T|MFSD11_uc002jtd.3_Missense_Mutation_p.A354T|MFSD11_uc010dhb.2_Missense_Mutation_p.A302T|MFSD11_uc002jte.2_Missense_Mutation_p.A354T	NM_024311	NP_077287	O43934	MFS11_HUMAN	major facilitator superfamily domain containing	354						integral to membrane				ovary(1)	1						CAAAGAAGTTGCCATTCTCTG	0.413													A	74772498	G	A	74772498	3	1	104	1	0	0	0	0	1	0	0	0	9529	1319	46	2	1106	2	MFSD11	17	74772498	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	681970	74772498	6422712	5776	72390											
DNAH17	8632	broad.mit.edu	37	chr17	76548826	76548826	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcgctcaataacttgacaTcaattgcttccagttctgac	6	12	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:76548826T>C	uc002jvv.1	-	11	1452	c.1346A>G	c.(1345-1347)GAT>GGT	p.D449G						RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TAACTTGACATCAATTGCTTC	0.428													C	76548826	T	C	76548826	3	2	104	1	0	0	0	0	1	0	0	0	4601	1435	50	3	11416	3	DNAH17	17	76548826	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1776328	76548826	4646384	5777	72391											
DNAH17	8632	broad.mit.edu	37	chr17	76554208	76554208	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctcattataccagccaacGatgagctccaggttgcccac	7	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:76554208G>A	uc002jvv.1	-	10	1372	c.1266C>T	c.(1264-1266)ATC>ATT	p.I422I						RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACCAGCCAACGATGAGCTCCA	0.433													A	76554208	G	A	76554208	2	1	104	1	0	0	0	0	0	0	0	1	4601	1048	37	1		1	DNAH17	17	76554208	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5382	76554208	4641002	5778	72392											
USP36	57602	broad.mit.edu	37	chr17	76832327	76832327	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctggctggctcgaactcgAttttctgtaaaaggaccttc	10	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:76832327A>G	uc002jvz.1	-	3	444	c.119T>C	c.(118-120)ATC>ACC	p.I40T	USP36_uc002jwa.1_Missense_Mutation_p.I40T|USP36_uc002jwd.1_Missense_Mutation_p.I40T	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	40					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CTCGAACTCGATTTTCTGTAA	0.537													G	76832327	A	G	76832327	3	3	104	1	0	0	0	0	1	0	0	0	17064	333	12	3	3324	3	USP36	17	76832327	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	278119	76832327	4362883	5779	72393											
TBC1D16	125058	broad.mit.edu	37	chr17	77922709	77922709	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggattgtcttccccccggaaGaactggttgttccgatctgt	11	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:77922709G>T	uc002jxj.2	-	8	1619	c.1503C>A	c.(1501-1503)TTC>TTA	p.F501L	TBC1D16_uc002jxh.2_Missense_Mutation_p.F139L|TBC1D16_uc002jxi.2_Missense_Mutation_p.F126L|TBC1D16_uc002jxk.1_Missense_Mutation_p.F139L	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	501	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CCCCCCGGAAGAACTGGTTGT	0.572													T	77922709	G	T	77922709	3	4	104	1	0	0	0	0	1	0	0	0	15602	933	33	5	820	5	TBC1D16	17	77922709	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1090382	77922709	3272501	5780	72394											
CARD14	79092	broad.mit.edu	37	chr17	78162210	78162210	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggagctgcagcgagccaAcatggtttcctcctgtgagc	13	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:78162210A>G	uc002jxw.1	+	5	905	c.710A>G	c.(709-711)AAC>AGC	p.N237S	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.N237S|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_5'UTR|CARD14_uc010dhu.1_Missense_Mutation_p.N35S	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	237	Potential.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CAGCGAGCCAACATGGTTTCC	0.607													G	78162210	A	G	78162210	3	3	104	1	0	0	0	0	1	0	0	0	2646	43	2	3	724	3	CARD14	17	78162210	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	239501	78162210	3033000	5781	72395											
RNF213	57674	broad.mit.edu	37	chr17	78321073	78321073	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccttccccgcaagacattGcacaggctgtccttaggaac	9	14	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:78321073G>T	uc002jyh.1	+	4	3380	c.3157G>T	c.(3157-3159)GCA>TCA	p.A1053S		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCAAGACATTGCACAGGCTGT	0.498													T	78321073	G	T	78321073	3	4	104	1	0	0	0	0	1	0	0	0	13477	1319	46	5	9367	5	RNF213	17	78321073	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	158863	78321073	2874137	5782	72396											
RNF213	57674	broad.mit.edu	37	chr17	78354771	78354771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggctctgcttctgggagCgtcccagagttcccaggtat	12	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:78354771C>T	uc002jyh.1	+	31	8223	c.8000C>T	c.(7999-8001)GCG>GTG	p.A2667V	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.A1049V	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTTCTGGGAGCGTCCCAGAGT	0.562													T	78354771	C	T	78354771	3	4	104	1	0	0	0	0	1	0	0	0	13477	768	27	1	14318	1	RNF213	17	78354771	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	33698	78354771	2840439	5783	72397											
RNF213	57674	broad.mit.edu	37	chr17	78360622	78360622	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagagaccgtgcaggagttCgatctggagaagattcagcg	15	7	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:78360622C>T	uc002jyh.1	+	38	9295	c.9072C>T	c.(9070-9072)TTC>TTT	p.F3024F	uc002jyi.1_Intron|RNF213_uc010dhx.1_5'UTR	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGCAGGAGTTCGATCTGGAGA	0.582													T	78360622	C	T	78360622	2	4	104	1	0	0	0	0	0	0	0	1	13477	883	31	1		1	RNF213	17	78360622	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5851	78360622	2834588	5784	72398											
RPTOR	57521	broad.mit.edu	37	chr17	78796935	78796935	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctagtctgtttcgaaatTttttattggcggaaaggatt	11	4	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:78796935T>G	uc002jyt.1	+	9	1853	c.1048T>G	c.(1048-1050)TTT>GTT	p.F350V	RPTOR_uc002jys.2_Missense_Mutation_p.F350V|RPTOR_uc010wuf.1_Missense_Mutation_p.F165V|RPTOR_uc010wug.1_Missense_Mutation_p.F350V	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	350					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						GTTTCGAAATTTTTTATTGGC	0.483													G	78796935	T	G	78796935	3	3	104	1	0	0	0	0	1	0	0	0	13665	1841	64	5	1082	5	RPTOR	17	78796935	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	436313	78796935	2398275	5785	72399											
AATK	9625	broad.mit.edu	37	chr17	79095489	79095489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccaggccctgggcagaGcatagatgagggaggccggg	20	9	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:79095489G>A	uc010dia.2	-	11	2327	c.2247C>T	c.(2245-2247)TGC>TGT	p.C749C	AATK_uc010dhz.2_RNA	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	749	Pro-rich.					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCTGGGCAGAGCATAGATGAG	0.692													A	79095489	G	A	79095489	2	1	104	1	0	0	0	0	0	0	0	1	26	963	34	2		2	AATK	17	79095489	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	298554	79095489	2099721	5786	72400											
AATK	9625	broad.mit.edu	37	chr17	79096523	79096523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaaactcctcctctgcttCggtggcgcccttggcacaca	8	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:79096523C>T	uc010dia.2	-	11	1293	c.1213G>A	c.(1213-1215)GAA>AAA	p.E405K	AATK_uc010dhz.2_5'Flank	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	405						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TCCTCTGCTTCGGTGGCGCCC	0.498													T	79096523	C	T	79096523	3	4	104	1	0	0	0	0	1	0	0	0	26	893	31	1	2927	1	AATK	17	79096523	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1034	79096523	2098687	5787	72401											
C17orf90	339229	broad.mit.edu	37	chr17	79632445	79632445	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggtggcagcgatgccTtgggcggcctggtgccgtcc	17	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:79632445T>G	uc002kba.2	-	2	241	c.230A>C	c.(229-231)AAG>ACG	p.K77T	C17orf90_uc002kbb.2_3'UTR|CCDC137_uc002kbc.3_5'Flank|CCDC137_uc002kbd.2_5'Flank	NM_001039842	NP_001034931	Q5BKU9	CQ090_HUMAN	hypothetical protein LOC339229	77											0	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CAGCGATGCCTTGGGCGGCCT	0.662													G	79632445	T	G	79632445	3	3	104	1	0	0	0	0	1	0	0	0	1891	1609	56	5	217	5	C17orf90	17	79632445	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	535922	79632445	1562765	5788	72402											
SIRT7	51547	broad.mit.edu	37	chr17	79873485	79873485	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggccatgcctggcccgcttAcctaacgcttctccctttct	7	17	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:79873485A>G	uc002kcj.1	-	4	440	c.407_splice	c.e4+1	p.S136_splice	SIRT7_uc002kck.1_Splice_Site|SIRT7_uc002kcl.1_Splice_Site_p.S54_splice	NM_016538	NP_057622	Q9NRC8	SIRT7_HUMAN	sirtuin 7						chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TGGCCCGCTTACCTAACGCTT	0.592													G	79873485	A	G	79873485	5	3	104	1	0	0	0	0	0	0	1	0	14343	405	14	3	821	3	SIRT7	17	79873485	Splice_Site	SNP	A	TCGA-BR-8680-01A-11D-2394-08	241040	79873485	1321725	5789	72403											
NOTUM	147111	broad.mit.edu	37	chr17	79911050	79911050	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggcagcccttgaggggggtCttgctggccttgtggctgtc	18	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:79911050C>A	uc010wvg.1	-	11	1550	c.1278G>T	c.(1276-1278)AAG>AAT	p.K426N		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog precursor	426						extracellular region	hydrolase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TGAGGGGGGTCTTGCTGGCCT	0.672													A	79911050	C	A	79911050	3	1	104	1	0	0	0	0	1	0	0	0	10552	912	32	5	216	5	NOTUM	17	79911050	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	37565	79911050	1284160	5790	72404											
NARF	26502	broad.mit.edu	37	chr17	80443437	80443437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgttacgctttgctgcaGcctatggctttcgaaacatc	10	10	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:80443437G>A	uc002kfg.3	+	10	1176	c.1036G>A	c.(1036-1038)GCC>ACC	p.A346T	NARF_uc002kff.3_Missense_Mutation_p.A287T|NARF_uc010dit.2_Missense_Mutation_p.A392T|NARF_uc002kfj.3_Missense_Mutation_p.A298T|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Missense_Mutation_p.A392T|NARF_uc002kfk.2_RNA	NM_012336	NP_036468	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor isoform a	346						lamin filament	lamin binding			skin(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CTTTGCTGCAGCCTATGGCTT	0.478													A	80443437	G	A	80443437	3	1	104	1	0	0	0	0	1	0	0	0	10167	971	34	2	1216	2	NARF	17	80443437	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	532387	80443437	751773	5791	72405											
ZNF750	79755	broad.mit.edu	37	chr17	80790171	80790171	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctgctctgatactaaagTaatcgagtttttacaaagac	6	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr17:80790171T>C	uc002kga.2	-	2	471	c.160A>G	c.(160-162)ACT>GCT	p.T54A	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	54						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GATACTAAAGTAATCGAGTTT	0.433													C	80790171	T	C	80790171	3	2	104	1	0	0	0	0	1	0	0	0	18129	1638	57	3	2019	3	ZNF750	17	80790171	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	346734	80790171	405039	5792	72406											
COLEC12	81035	broad.mit.edu	37	chr18	346509	346509	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttggtaagggtatctgtGcaagtggtcctgacttcatt	12	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:346509G>A	uc002kkm.2	-	5	1328	c.1113C>T	c.(1111-1113)TGC>TGT	p.C371C		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	371	Extracellular (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GGGTATCTGTGCAAGTGGTCC	0.448													A	346509	G	A	346509	2	1	104	1	0	0	0	0	0	0	0	1	3712	1311	46	2		2	COLEC12	18	346509	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08		346509	77730739	5793	72407											
COLEC12	81035	broad.mit.edu	37	chr18	347104	347104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgacatagccattatacGcctggagggttttgtttaca	10	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:347104G>A	uc002kkm.2	-	5	733	c.518C>T	c.(517-519)GCG>GTG	p.A173V		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	173	Extracellular (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCCATTATACGCCTGGAGGGT	0.473													A	347104	G	A	347104	3	1	104	1	0	0	0	0	1	0	0	0	3712	1087	38	1	1734	1	COLEC12	18	347104	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	595	347104	77730144	5794	72408											
COLEC12	81035	broad.mit.edu	37	chr18	348100	348100	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cactttccactgctgtgagcTtgtcatcataggtttggcga	10	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:348100T>G	uc002kkm.2	-	4	460	c.245A>C	c.(244-246)AAG>ACG	p.K82T		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	82	Potential.|Extracellular (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TGCTGTGAGCTTGTCATCATA	0.388													G	348100	T	G	348100	3	3	104	1	0	0	0	0	1	0	0	0	3712	1609	56	5	2011	5	COLEC12	18	348100	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	996	348100	77729148	5795	72409											
ENOSF1	55556	broad.mit.edu	37	chr18	674310	674310	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttggggctgagcacttaatTttcttgagcaggaaggagtt	14	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:674310T>G	uc002kku.3	-	16	1402	c.1327A>C	c.(1327-1329)AAT>CAT	p.N443H	ENOSF1_uc002kkt.3_Missense_Mutation_p.N361H|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Missense_Mutation_p.N450H|ENOSF1_uc002kkv.3_Missense_Mutation_p.N430H|ENOSF1_uc002kkw.3_Missense_Mutation_p.N262H|ENOSF1_uc002kkx.3_Missense_Mutation_p.N367H	NM_017512	NP_059982	Q7L5Y1	ENOF1_HUMAN	enolase superfamily 1 isoform rTS beta	443					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			ovary(1)	1						AGCACTTAATTTTCTTGAGCA	0.373													G	674310	T	G	674310	3	3	104	1	0	0	0	0	1	0	0	0	5125	1841	64	5	8	5	ENOSF1	18	674310	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	326210	674310	77402938	5796	72410											
ADCYAP1	116	broad.mit.edu	37	chr18	909593	909593	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctagggaagaggtataAacaaagggttaaaaacaaag	11	5	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:909593A>C	uc010dkg.2	+	5	607	c.488A>C	c.(487-489)AAA>ACA	p.K163T	ADCYAP1_uc010dkh.2_Missense_Mutation_p.K163T	NM_001099733	NP_001093203	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide	163					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding				0						AAGAGGTATAAACAAAGGGTT	0.493													C	909593	A	C	909593	3	2	104	1	0	0	0	0	1	0	0	0	302	14	1	5	502	5	ADCYAP1	18	909593	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	235283	909593	77167655	5797	72411											
NDC80	10403	broad.mit.edu	37	chr18	2577854	2577854	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattcattcagcagtgtattCgacaactctgtgaggtactt	8	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:2577854C>T	uc002kli.2	+	4	471	c.289C>T	c.(289-291)CGA>TGA	p.R97*		NM_006101	NP_006092	O14777	NDC80_HUMAN	kinetochore associated 2	97	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			ovary(1)	1						GCAGTGTATTCGACAACTCTG	0.363													T	2577854	C	T	2577854	4	4	104	1	0	0	0	0	0	1	0	0	10242	876	31	1	299	1	NDC80	18	2577854	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1668261	2577854	75499394	5798	72412											
NDC80	10403	broad.mit.edu	37	chr18	2577969	2577969	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcataaaaattattgtagtTtcttacagaaaatggttatg	6	3	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:2577969T>G	uc002kli.2	+	5	487	c.305T>G	c.(304-306)TTT>TGT	p.F102C		NM_006101	NP_006092	O14777	NDC80_HUMAN	kinetochore associated 2	102	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			ovary(1)	1						TTATTGTAGTTTCTTACAGAA	0.318													G	2577969	T	G	2577969	3	3	104	1	0	0	0	0	1	0	0	0	10242	1855	64	5	319	5	NDC80	18	2577969	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	115	2577969	75499279	5799	72413											
SMCHD1	23347	broad.mit.edu	37	chr18	2667021	2667021	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attatgccagtgaaggacaaAatcctttgcgtaagtatccc	8	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:2667021A>C	uc002klm.3	+	3	604	c.415A>C	c.(415-417)AAT>CAT	p.N139H		NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	139					chromosome organization		ATP binding				0						TGAAGGACAAAATCCTTTGCG	0.358													C	2667021	A	C	2667021	3	2	104	1	0	0	0	0	1	0	0	0	14788	14	1	5	425	5	SMCHD1	18	2667021	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	89052	2667021	75410227	5800	72414											
SMCHD1	23347	broad.mit.edu	37	chr18	2771569	2771569	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattaaaagaggcccaattgCgaaatgaactaaaaatacat	7	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:2771569C>T	uc002klm.3	+	40	5194	c.5005C>T	c.(5005-5007)CGA>TGA	p.R1669*	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	1669					chromosome organization		ATP binding				0						GGCCCAATTGCGAAATGAACT	0.303													T	2771569	C	T	2771569	4	4	104	1	0	0	0	0	0	1	0	0	14788	760	27	1	5163	1	SMCHD1	18	2771569	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	104548	2771569	75305679	5801	72415											
EMILIN2	84034	broad.mit.edu	37	chr18	2891625	2891625	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atacagtctctggaagaccgTctggggagcgttctcctaca	11	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:2891625T>C	uc002kln.2	+	4	1659	c.1500T>C	c.(1498-1500)CGT>CGC	p.R500R		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	500					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)		TGGAAGACCGTCTGGGGAGCG	0.532													C	2891625	T	C	2891625	2	2	104	1	0	0	0	0	0	0	0	1	5094	1654	58	3		3	EMILIN2	18	2891625	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	120056	2891625	75185623	5802	72416											
EPB41L3	23136	broad.mit.edu	37	chr18	5415967	5415967	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcagacagcagaaagaaaaaGatgaagaggaaacagggcac	13	6	0	6			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:5415967G>T	uc002kmt.1	-	13	2003	c.1917C>A	c.(1915-1917)ATC>ATA	p.I639I	EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	639	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GAAAGAAAAAGATGAAGAGGA	0.562													T	5415967	G	T	5415967	2	4	104	1	0	0	0	0	0	0	0	1	5154	932	33	5		5	EPB41L3	18	5415967	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2524342	5415967	72661281	5803	72417											
TMEM200C	645369	broad.mit.edu	37	chr18	5890224	5890224	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgctttccagttcttcTtctacccctatggcatgaga	7	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:5890224T>G	uc002kmx.1	-	1	1880	c.1839A>C	c.(1837-1839)GAA>GAC	p.E613D		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	transmembrane protein 200C	613						integral to membrane					0						CCAGTTCTTCTTCTACCCCTA	0.507													G	5890224	T	G	5890224	3	3	104	1	0	0	0	0	1	0	0	0	16122	1606	56	5	30	5	TMEM200C	18	5890224	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	474257	5890224	72187024	5804	72418											
ARHGAP28	79822	broad.mit.edu	37	chr18	6889954	6889954	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgaatgagtctgtggaacaTttctacagtgatggcaccaa	10	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:6889954T>G	uc010wzi.1	+	12	1311	c.1073T>G	c.(1072-1074)ATT>AGT	p.I358S	ARHGAP28_uc002knc.2_Missense_Mutation_p.I483S|ARHGAP28_uc002knd.2_Missense_Mutation_p.I376S|ARHGAP28_uc002kne.2_Missense_Mutation_p.I376S|ARHGAP28_uc002knf.2_Missense_Mutation_p.I367S			B4DXL2	B4DXL2_HUMAN	SubName: Full=Putative uncharacterized protein ARHGAP28;	358					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)				CTGTGGAACATTTCTACAGTG	0.398													G	6889954	T	G	6889954	3	3	104	1	0	0	0	0	1	0	0	0	877	1493	52	5	1169	5	ARHGAP28	18	6889954	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	999730	6889954	71187294	5805	72419											
LAMA1	284217	broad.mit.edu	37	chr18	6943388	6943388	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccagcaccattgttgAcatggaacaagacctaaaag	8	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:6943388A>G	uc002knm.2	-	62	8952	c.8858T>C	c.(8857-8859)GTC>GCC	p.V2953A	LAMA1_uc002knk.2_Missense_Mutation_p.V283A|LAMA1_uc002knl.2_Missense_Mutation_p.V406A|LAMA1_uc010wzj.1_Missense_Mutation_p.V2429A	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2953	Laminin G-like 5.				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)	ACCATTGTTGACATGGAACAA	0.408													G	6943388	A	G	6943388	3	3	104	1	0	0	0	0	1	0	0	0	8605	275	10	3	377	3	LAMA1	18	6943388	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	53434	6943388	71133860	5806	72420											
LAMA1	284217	broad.mit.edu	37	chr18	6956679	6956679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcttgctgtcctctgcatCgggagccagcttaggccttt	12	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:6956679C>T	uc002knm.2	-	56	8144	c.8050G>A	c.(8050-8052)GAT>AAT	p.D2684N	LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Missense_Mutation_p.D137N|LAMA1_uc010wzj.1_Missense_Mutation_p.D2160N	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2684					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)	TCCTCTGCATCGGGAGCCAGC	0.547													T	6956679	C	T	6956679	3	4	104	1	0	0	0	0	1	0	0	0	8605	884	31	1	1209	1	LAMA1	18	6956679	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	13291	6956679	71120569	5807	72421											
LAMA1	284217	broad.mit.edu	37	chr18	6959410	6959410	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acccgtgggagcgtgcaggaGagcttttctcaggcctgtcc	14	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:6959410G>T	uc002knm.2	-	54	7802	c.7708C>A	c.(7708-7710)CTC>ATC	p.L2570I	LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Missense_Mutation_p.L23I|LAMA1_uc010wzj.1_Missense_Mutation_p.L2046I	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2570	Laminin G-like 3.				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)	GCGTGCAGGAGAGCTTTTCTC	0.557													T	6959410	G	T	6959410	3	4	104	1	0	0	0	0	1	0	0	0	8605	942	33	5	1559	5	LAMA1	18	6959410	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2731	6959410	71117838	5808	72422											
LAMA1	284217	broad.mit.edu	37	chr18	6986331	6986331	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctgaatttgtgacaaTaaatcttcagcagccctgat	6	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:6986331T>C	uc002knm.2	-	37	5278	c.5184A>G	c.(5182-5184)TTA>TTG	p.L1728L	LAMA1_uc010wzj.1_Silent_p.L1204L	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1728	Domain II and I.|Potential.				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)	TTTGTGACAATAAATCTTCAG	0.358													C	6986331	T	C	6986331	2	2	104	1	0	0	0	0	0	0	0	1	8605	1403	49	3		3	LAMA1	18	6986331	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	26921	6986331	71090917	5809	72423											
PTPRM	5797	broad.mit.edu	37	chr18	7888319	7888319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatatctggagacccaacaCgtacatggaacagggcagaa	10	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:7888319C>T	uc002knn.3	+	3	915	c.412C>T	c.(412-414)CGT>TGT	p.R138C	PTPRM_uc010dkv.2_Missense_Mutation_p.R138C	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	138	MAM.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				AGACCCAACACGTACATGGAA	0.428													T	7888319	C	T	7888319	3	4	104	1	0	0	0	0	1	0	0	0	12806	536	19	1	422	1	PTPRM	18	7888319	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	901988	7888319	70188929	5810	72424											
PTPRM	5797	broad.mit.edu	37	chr18	8085834	8085834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacagctaagggttttgggCctccagcaacaaaccagttc	10	12	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:8085834C>T	uc002knn.3	+	10	2220	c.1717C>T	c.(1717-1719)CCT>TCT	p.P573S	PTPRM_uc010dkv.2_Missense_Mutation_p.P573S|PTPRM_uc010wzl.1_Missense_Mutation_p.P360S	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	573	Fibronectin type-III 3.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				GGGTTTTGGGCCTCCAGCAAC	0.428													T	8085834	C	T	8085834	3	4	104	1	0	0	0	0	1	0	0	0	12806	739	26	2	1755	2	PTPRM	18	8085834	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	197515	8085834	69991414	5811	72425											
PTPRM	5797	broad.mit.edu	37	chr18	8113723	8113723	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctcccctataaaagctacaGaatttatttccaagctgcta	4	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:8113723G>T	uc002knn.3	+	12	2599	c.2096G>T	c.(2095-2097)AGA>ATA	p.R699I	PTPRM_uc010dkv.2_Missense_Mutation_p.R699I|PTPRM_uc010wzl.1_Missense_Mutation_p.R486I	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	699	Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				AAAAGCTACAGAATTTATTTC	0.403													T	8113723	G	T	8113723	3	4	104	1	0	0	0	0	1	0	0	0	12806	942	33	5	2142	5	PTPRM	18	8113723	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	27889	8113723	69963525	5812	72426											
PTPRM	5797	broad.mit.edu	37	chr18	8387085	8387085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtagccccaagatggatatCggatggtgcagcaattccag	12	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:8387085C>T	uc002knn.3	+	29	4524	c.4021C>T	c.(4021-4023)CGG>TGG	p.R1341W	PTPRM_uc010dkv.2_Missense_Mutation_p.R1354W|PTPRM_uc010wzl.1_Missense_Mutation_p.R1128W	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1341	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				AGATGGATATCGGATGGTGCA	0.502													T	8387085	C	T	8387085	3	4	104	1	0	0	0	0	1	0	0	0	12806	875	31	1	4182	1	PTPRM	18	8387085	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	273362	8387085	69690163	5813	72427											
RAB12	201475	broad.mit.edu	37	chr18	8638257	8638257	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaccacatgtccgatgctgTtgatttcctactttggagac	9	10	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:8638257T>C	uc002knp.2	+	6	1015	c.732T>C	c.(730-732)TGT>TGC	p.C244C		NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	244					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding				0						TCCGATGCTGTTGATTTCCTA	0.418													C	8638257	T	C	8638257	2	2	104	1	0	0	0	0	0	0	0	1	12898	1731	60	3		3	RAB12	18	8638257	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	251172	8638257	69438991	5814	72428											
ANKRD12	23253	broad.mit.edu	37	chr18	9255701	9255701	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atagacattgaaaaacaagaAaagcatataaaggaaagtaa	7	3	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:9255701A>C	uc002knv.2	+	9	2693	c.2436A>C	c.(2434-2436)GAA>GAC	p.E812D	ANKRD12_uc002knw.2_Missense_Mutation_p.E789D|ANKRD12_uc002knx.2_Missense_Mutation_p.E789D|ANKRD12_uc010dkx.1_Missense_Mutation_p.E519D	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	812						nucleus				ovary(2)|central_nervous_system(1)	3						AAAAACAAGAAAAGCATATAA	0.323													C	9255701	A	C	9255701	3	2	104	1	0	0	0	0	1	0	0	0	640	11	1	5	2466	5	ANKRD12	18	9255701	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	617444	9255701	68821547	5815	72429											
APCDD1	147495	broad.mit.edu	37	chr18	10488027	10488027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgctgcattggaacatcCgcagatagaagttttagaaa	9	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:10488027C>T	uc002kom.3	+	5	1891	c.1537C>T	c.(1537-1539)CGC>TGC	p.R513C		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	513	Cytoplasmic (Potential).				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding				0				READ - Rectum adenocarcinoma(15;0.08)		TTGGAACATCCGCAGATAGAA	0.478													T	10488027	C	T	10488027	3	4	104	1	0	0	0	0	1	0	0	0	765	652	23	1	1555	1	APCDD1	18	10488027	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1232326	10488027	67589221	5816	72430											
FAM38B	63895	broad.mit.edu	37	chr18	10671566	10671566	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catttgatcattgtctctggTgagcgatataggaatattaa	9	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:10671566T>C	uc002kor.3	-	14	2228	c.2088A>G	c.(2086-2088)TCA>TCG	p.S696S	FAM38B_uc002koq.2_Silent_p.S531S	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2739						integral to membrane	ion channel activity			ovary(1)	1						TTGTCTCTGGTGAGCGATATA	0.323													C	10671566	T	C	10671566	2	2	104	1	0	0	0	0	0	0	0	1	5555	1683	59	3		3	FAM38B	18	10671566	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	183539	10671566	67405682	5817	72431											
SPIRE1	56907	broad.mit.edu	37	chr18	12479831	12479831	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacctccattcaccatagatGactccacaagattctttgta	4	12	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:12479831G>T	uc002kre.2	-	10	1318	c.1271C>A	c.(1270-1272)TCA>TAA	p.S424*	SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Nonsense_Mutation_p.S290*|SPIRE1_uc010wzx.1_Nonsense_Mutation_p.S213*|SPIRE1_uc010wzy.1_Nonsense_Mutation_p.S410*	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	spire homolog 1 isoform a	424						cytoskeleton|perinuclear region of cytoplasm	actin binding				0						CACCATAGATGACTCCACAAG	0.448													T	12479831	G	T	12479831	4	4	104	1	0	0	0	0	0	1	0	0	15070	1294	45	5	1031	5	SPIRE1	18	12479831	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1808265	12479831	65597417	5818	72432											
PTPN2	5771	broad.mit.edu	37	chr18	12817275	12817275	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gattctctcactttaaacaaGaaattgagaaatgaagctgg	8	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:12817275G>T	uc002krp.2	-	6	779	c.585C>A	c.(583-585)TTC>TTA	p.F195L	PTPN2_uc002krl.2_Missense_Mutation_p.F195L|PTPN2_uc002krn.2_Missense_Mutation_p.F218L|PTPN2_uc002kro.2_Missense_Mutation_p.F195L|PTPN2_uc002krm.2_Missense_Mutation_p.F195L	NM_002828	NP_002819	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type	195	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			skin(2)	2		Lung NSC(161;8.94e-06)				CTTTAAACAAGAAATTGAGAA	0.468													T	12817275	G	T	12817275	3	4	104	1	0	0	0	0	1	0	0	0	12785	933	33	5	704	5	PTPN2	18	12817275	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	337444	12817275	65259973	5819	72433											
CEP192	55125	broad.mit.edu	37	chr18	13069153	13069153	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttacctttgaaaaatgctggGaacattgaagtttatttgga	9	4	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:13069153G>A	uc010xac.1	+	26	5108	c.5028G>A	c.(5026-5028)GGG>GGA	p.G1676G	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.G1201G|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Silent_p.G98G|CEP192_uc002krw.2_5'Flank	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1676										ovary(4)|pancreas(1)	5						AAAATGCTGGGAACATTGAAG	0.448													A	13069153	G	A	13069153	2	1	104	1	0	0	0	0	0	0	0	1	3251	1161	41	4		4	CEP192	18	13069153	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	251878	13069153	65008095	5820	72434											
C18orf19	125228	broad.mit.edu	37	chr18	13666620	13666620	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagatactccttgacgggTggcggcgtggacatgtagcc	15	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:13666620T>G	uc010dlh.2	-	5	1110	c.678A>C	c.(676-678)CCA>CCC	p.P226P	C18orf19_uc010dlg.2_3'UTR|C18orf19_uc010dli.2_Silent_p.P226P|C18orf19_uc002ksj.3_Silent_p.P226P|C18orf19_uc010dlj.2_RNA	NM_001098801	NP_001092271	Q96ND0	CR019_HUMAN	hypothetical protein LOC125228	226	DUF1279.					integral to membrane				breast(2)	2						CCTTGACGGGTGGCGGCGTGG	0.468													G	13666620	T	G	13666620	2	3	104	1	0	0	0	0	0	0	0	1	1896	1683	59	5		5	C18orf19	18	13666620	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	597467	13666620	64410628	5821	72435											
RNMT	8731	broad.mit.edu	37	chr18	13734563	13734563	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagtcgtattttttacctaaGaaactttaataattggatga	6	4	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:13734563G>T	uc002ksk.1	+	3	585	c.518G>T	c.(517-519)AGA>ATA	p.R173I	RNMT_uc002ksl.1_Missense_Mutation_p.R173I|RNMT_uc002ksm.1_Missense_Mutation_p.R173I|RNMT_uc010dlk.2_Missense_Mutation_p.R173I|RNMT_uc010xae.1_RNA	NM_003799	NP_003790	O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	173					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding				0						TTTTACCTAAGAAACTTTAAT	0.363													T	13734563	G	T	13734563	3	4	104	1	0	0	0	0	1	0	0	0	13506	942	33	5	524	5	RNMT	18	13734563	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	67943	13734563	64342685	5822	72436											
ROCK1	6093	broad.mit.edu	37	chr18	18622574	18622574	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaccgaccaccagtcacattCtcttccataataaccatcac	2	16	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:18622574C>A	uc002kte.2	-	7	1713	c.772G>T	c.(772-774)GAA>TAA	p.E258*		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	258	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					CAGTCACATTCTCTTCCATAA	0.393													A	18622574	C	A	18622574	4	1	104	1	0	0	0	0	0	1	0	0	13517	922	32	5	3400	5	ROCK1	18	18622574	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4888011	18622574	59454674	5823	72437											
ROCK1	6093	broad.mit.edu	37	chr18	18629740	18629740	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctcattaaaataacctaCcaattgaacttctccaaatg	2	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:18629740C>T	uc002kte.2	-	3	1217	c.276_splice	c.e3+1	p.L92_splice		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein						actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					AAATAACCTACCAATTGAACT	0.274													T	18629740	C	T	18629740	5	4	104	1	0	0	0	0	0	0	1	0	13517	521	18	4	3911	4	ROCK1	18	18629740	Splice_Site	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7166	18629740	59447508	5824	72438											
ESCO1	114799	broad.mit.edu	37	chr18	19144267	19144267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acttaggcaaagaatgatttCgtggtgtctcccttaaaaaa	8	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:19144267C>T	uc002kth.1	-	7	2652	c.1718G>A	c.(1717-1719)CGA>CAA	p.R573Q	ESCO1_uc002kti.1_RNA	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	establishment of cohesion 1 homolog 1	573					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding				0						AGAATGATTTCGTGGTGTCTC	0.289													T	19144267	C	T	19144267	3	4	104	1	0	0	0	0	1	0	0	0	5248	884	31	1	828	1	ESCO1	18	19144267	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	514527	19144267	58932981	5825	72439											
ESCO1	114799	broad.mit.edu	37	chr18	19153793	19153793	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtctcttccaattttatttCtgtgggcttttcttccttta	6	9	3	0	rs149446864		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:19153793C>T	uc002kth.1	-	4	1946	c.1012G>A	c.(1012-1014)GAA>AAA	p.E338K	ESCO1_uc002kti.1_RNA	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	establishment of cohesion 1 homolog 1	338					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding				0						AATTTTATTTCTGTGGGCTTT	0.358													T	19153793	C	T	19153793	3	4	104	1	0	0	0	0	1	0	0	0	5248	922	32	4	1546	4	ESCO1	18	19153793	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	9526	19153793	58923455	5826	72440											
ABHD3	171586	broad.mit.edu	37	chr18	19284546	19284546	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagcccacccccgagccgaaGaaccccacccggacttggtg	10	18	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:19284546G>T	uc002ktl.2	-	1	221	c.81C>A	c.(79-81)TTC>TTA	p.F27L	ABHD3_uc002ktm.2_Missense_Mutation_p.F27L|ABHD3_uc010xao.1_RNA|MIB1_uc002ktp.2_5'Flank|ABHD3_uc002kto.2_Missense_Mutation_p.F27L	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN	alpha/beta hydrolase domain containing protein	27	Helical; Signal-anchor for type II membrane protein; (Potential).					integral to membrane	carboxylesterase activity			central_nervous_system(1)	1						CCGAGCCGAAGAACCCCACCC	0.657													T	19284546	G	T	19284546	3	4	104	1	0	0	0	0	1	0	0	0	83	933	33	5	1184	5	ABHD3	18	19284546	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	130753	19284546	58792702	5827	72441											
MIB1	57534	broad.mit.edu	37	chr18	19371466	19371466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtttgttatgacctggaacGaattaaacttctacaaagag	8	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:19371466G>A	uc002ktq.2	+	7	1040	c.1040G>A	c.(1039-1041)CGA>CAA	p.R347Q	MIB1_uc002ktp.2_5'UTR	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	347					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)			GACCTGGAACGAATTAAACTT	0.428													A	19371466	G	A	19371466	3	1	104	1	0	0	0	0	1	0	0	0	9566	1058	37	1	1066	1	MIB1	18	19371466	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	86920	19371466	58705782	5828	72442											
CTAGE1	64693	broad.mit.edu	37	chr18	19996468	19996468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttctttcagcagtccaaGctgccgaccaattatcatgt	8	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:19996468G>A	uc002ktv.1	-	1	1411	c.1307C>T	c.(1306-1308)GCT>GTT	p.A436V		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	436						integral to membrane				ovary(1)	1	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGCAGTCCAAGCTGCCGACCA	0.299													A	19996468	G	A	19996468	3	1	104	1	0	0	0	0	1	0	0	0	3992	971	34	2	934	2	CTAGE1	18	19996468	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	625002	19996468	58080780	5829	72443											
C18orf8	29919	broad.mit.edu	37	chr18	21095901	21095901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgtactgccccgagagcGccgtgatcttgctgtctacc	10	14	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:21095901G>A	uc010xax.1	+	6	611	c.490G>A	c.(490-492)GCC>ACC	p.A164T	C18orf8_uc010xau.1_Missense_Mutation_p.A7T|C18orf8_uc010xav.1_Missense_Mutation_p.A116T|C18orf8_uc010xaw.1_Missense_Mutation_p.A7T|C18orf8_uc002kul.2_RNA	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	164										ovary(1)	1	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCCCGAGAGCGCCGTGATCTT	0.478											OREG0024894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	21095901	G	A	21095901	3	1	104	1	0	0	0	0	1	0	0	0	1907	1087	38	1	512	1	C18orf8	18	21095901	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1099433	21095901	56981347	5830	72444											
LAMA3	3909	broad.mit.edu	37	chr18	21404477	21404477	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggttttgcagacccattttCaatcacaccaggaatatggg	9	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:21404477C>A	uc002kuq.2	+	21	2605	c.2519C>A	c.(2518-2520)TCA>TAA	p.S840*	LAMA3_uc002kur.2_Nonsense_Mutation_p.S840*	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	840	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACCCATTTTCAATCACACCA	0.468													A	21404477	C	A	21404477	4	1	104	1	0	0	0	0	0	1	0	0	8607	838	29	5	2601	5	LAMA3	18	21404477	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	308576	21404477	56672771	5831	72445											
LAMA3	3909	broad.mit.edu	37	chr18	21461926	21461926	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcacaacaccgcgggagaGcactgtgaacgctgccagga	13	13	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:21461926G>T	uc002kuq.2	+	40	5225	c.5139G>T	c.(5137-5139)GAG>GAT	p.E1713D	LAMA3_uc002kur.2_Missense_Mutation_p.E1713D|LAMA3_uc002kus.3_Missense_Mutation_p.E104D|LAMA3_uc002kut.3_Missense_Mutation_p.E104D	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1713	Domain III A.|Laminin EGF-like 13.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCGCGGGAGAGCACTGTGAAC	0.542													T	21461926	G	T	21461926	3	4	104	1	0	0	0	0	1	0	0	0	8607	962	34	5	5472	5	LAMA3	18	21461926	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	57449	21461926	56615322	5832	72446											
ZNF521	25925	broad.mit.edu	37	chr18	22805217	22805217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaggctgccccacaaatgtCgcagccgtacataggctcag	11	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:22805217C>T	uc002kvk.2	-	4	2912	c.2665G>A	c.(2665-2667)GAC>AAC	p.D889N	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.D889N|ZNF521_uc002kvl.2_Missense_Mutation_p.D669N	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	889	C2H2-type 21; degenerate.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCACAAATGTCGCAGCCGTAC	0.522			T	PAX5	ALL								T	22805217	C	T	22805217	3	4	104	1	0	0	0	0	1	0	0	0	17962	884	31	1	1290	1	ZNF521	18	22805217	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1343291	22805217	55272031	5833	72447											
TAF4B	6875	broad.mit.edu	37	chr18	23895348	23895348	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tattggagctctacaaaagaGaattttagacattggtaagt	9	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:23895348G>T	uc002kvu.3	+	10	2477	c.1988G>T	c.(1987-1989)AGA>ATA	p.R663I	TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Missense_Mutation_p.R668I	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding	663	Histone-fold.				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)|skin(1)	3	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CTACAAAAGAGAATTTTAGAC	0.358													T	23895348	G	T	23895348	3	4	104	1	0	0	0	0	1	0	0	0	15524	942	33	5	2026	5	TAF4B	18	23895348	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1090131	23895348	54181900	5834	72448											
CHST9	83539	broad.mit.edu	37	chr18	24722665	24722665	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtgttacctgtatgttgttCttcaatccagacttgcaaat	7	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:24722665C>T	uc002kwd.2	-	1	307	c.109G>A	c.(109-111)GAA>AAA	p.E37K	C18orf16_uc010xbm.1_Intron|CHST9_uc002kwe.2_Missense_Mutation_p.E37K	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN	GalNAc-4-sulfotransferase 2	37	Lumenal (Potential).				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			ovary(2)|skin(1)	3	all_lung(6;0.0145)|Ovarian(20;0.124)					GTATGTTGTTCTTCAATCCAG	0.328													T	24722665	C	T	24722665	3	4	104	1	0	0	0	0	1	0	0	0	3411	922	32	4	1242	4	CHST9	18	24722665	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	827317	24722665	53354583	5835	72449											
DSC2	1824	broad.mit.edu	37	chr18	28669436	28669436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgctcacgatctacaggaCgagtacaatacaagtttcca	7	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:28669436C>T	uc002kwl.3	-	5	1050	c.596G>A	c.(595-597)CGT>CAT	p.R199H	DSC2_uc002kwk.3_Missense_Mutation_p.R199H	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	199	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATCTACAGGACGAGTACAATA	0.383													T	28669436	C	T	28669436	3	4	104	1	0	0	0	0	1	0	0	0	4766	536	19	1	2197	1	DSC2	18	28669436	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3946771	28669436	49407812	5836	72450											
DSG1	1828	broad.mit.edu	37	chr18	28925982	28925982	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caaatgagtatggtggcagaGaaatgcaagatctgggagga	15	4	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:28925982G>A	uc002kwp.2	+	14	2133	c.1921G>A	c.(1921-1923)GAA>AAA	p.E641K	DSG1_uc010xbp.1_5'UTR	NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	641	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGGTGGCAGAGAAATGCAAGA	0.353													A	28925982	G	A	28925982	3	1	104	1	0	0	0	0	1	0	0	0	4776	943	33	4	1975	4	DSG1	18	28925982	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	256546	28925982	49151266	5837	72451											
DSG4	147409	broad.mit.edu	37	chr18	28971169	28971169	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttccccaccttagagaaAacttcagtaagtttgtattc	5	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:28971169A>C	uc002kwq.2	+	7	948	c.813A>C	c.(811-813)AAA>AAC	p.K271N	DSG4_uc002kwr.2_Missense_Mutation_p.K271N	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2 preproprotein	271	Cadherin 3.|Extracellular (Potential).		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTTAGAGAAAACTTCAGTAA	0.403													C	28971169	A	C	28971169	3	2	104	1	0	0	0	0	1	0	0	0	4779	11	1	5	839	5	DSG4	18	28971169	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	45187	28971169	49106079	5838	72452											
DSG2	1829	broad.mit.edu	37	chr18	29122786	29122786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagctgctgttgcactgaacGaagaattcttaagaaattat	8	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:29122786G>A	uc002kwu.3	+	14	2493	c.2305G>A	c.(2305-2307)GAA>AAA	p.E769K	uc002kwv.3_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	769	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGCACTGAACGAAGAATTCTT	0.478													A	29122786	G	A	29122786	3	1	104	1	0	0	0	0	1	0	0	0	4777	1059	37	1	2359	1	DSG2	18	29122786	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	151617	29122786	48954462	5839	72453											
MCART2	147407	broad.mit.edu	37	chr18	29340392	29340392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggattccacgatacaaatttCgaaatccatcccttctcaac	4	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:29340392C>T	uc002kxa.2	-	1	452	c.233G>A	c.(232-234)CGA>CAA	p.R78Q		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	mitochondrial carrier triple repeat 2	78	Solcar 1.				transport	integral to membrane|mitochondrial inner membrane				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(10;0.0539)			ATACAAATTTCGAAATCCATC	0.463													T	29340392	C	T	29340392	3	4	104	1	0	0	0	0	1	0	0	0	9370	884	31	1	664	1	MCART2	18	29340392	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	217606	29340392	48736856	5840	72454											
RNF138	51444	broad.mit.edu	37	chr18	29693732	29693732	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aattctatcgcatgagacatCattacaaatcttgtaagaag	6	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:29693732C>A	uc002kxg.2	+	4	740	c.301C>A	c.(301-303)CAT>AAT	p.H101N	RNF138_uc002kxh.2_Intron	NM_016271	NP_057355	Q8WVD3	RN138_HUMAN	ring finger protein 138 isoform 1	101					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding				0						CATGAGACATCATTACAAATC	0.294													A	29693732	C	A	29693732	3	1	104	1	0	0	0	0	1	0	0	0	13441	826	29	5	311	5	RNF138	18	29693732	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	353340	29693732	48383516	5841	72455											
C18orf34	374864	broad.mit.edu	37	chr18	30554590	30554590	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatctggctgaagaggaccAccagtttgaagtgctcctgc	11	11	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:30554590A>G	uc002kxn.2	-	21	2586	c.2444T>C	c.(2443-2445)GTG>GCG	p.V815A	C18orf34_uc010xbq.1_RNA|C18orf34_uc010dme.1_Missense_Mutation_p.V279A|C18orf34_uc010xbr.1_Missense_Mutation_p.V839A|C18orf34_uc010dmf.1_Missense_Mutation_p.V135A|C18orf34_uc002kxo.2_Missense_Mutation_p.V777A|C18orf34_uc002kxp.2_Missense_Mutation_p.V815A	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	815										ovary(1)	1						GAAGAGGACCACCAGTTTGAA	0.507													G	30554590	A	G	30554590	3	3	104	1	0	0	0	0	1	0	0	0	1902	159	6	3	167	3	C18orf34	18	30554590	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	860858	30554590	47522658	5842	72456											
ASXL3	80816	broad.mit.edu	37	chr18	31323516	31323516	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catgctttttaataaaaattCtgtccctgtatctgtttgca	5	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:31323516C>A	uc010dmg.1	+	12	3759	c.3704C>A	c.(3703-3705)TCT>TAT	p.S1235Y	ASXL3_uc002kxq.2_Missense_Mutation_p.S942Y	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1235	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						AATAAAAATTCTGTCCCTGTA	0.373													A	31323516	C	A	31323516	3	1	104	1	0	0	0	0	1	0	0	0	1068	913	32	5	3750	5	ASXL3	18	31323516	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	768926	31323516	46753732	5843	72457											
NOL4	8715	broad.mit.edu	37	chr18	31599432	31599432	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcactcaggttcagtggCtgttcatcttgctccagccc	9	14	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:31599432C>T	uc010dmi.2	-	6	1135	c.906G>A	c.(904-906)CAG>CAA	p.Q302Q	NOL4_uc010xbs.1_Silent_p.Q17Q|NOL4_uc002kxr.3_Silent_p.Q138Q|NOL4_uc010xbt.1_Silent_p.Q228Q|NOL4_uc010dmh.2_Silent_p.Q228Q|NOL4_uc010xbu.1_Silent_p.Q302Q|NOL4_uc002kxt.3_Silent_p.Q302Q|NOL4_uc010xbv.1_Silent_p.Q51Q|NOL4_uc010xbw.1_Silent_p.Q188Q	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	302						nucleolus	RNA binding			ovary(3)	3						GGTTCAGTGGCTGTTCATCTT	0.483													T	31599432	C	T	31599432	2	4	104	1	0	0	0	0	0	0	0	1	10524	796	28	2		2	NOL4	18	31599432	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	275916	31599432	46477816	5844	72458											
DTNA	1837	broad.mit.edu	37	chr18	32431887	32431887	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attgctgagctagaaaacaaGaacaggtgagactttgtaga	11	5	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:32431887G>T	uc010dmn.1	+	14	1447	c.1446G>T	c.(1444-1446)AAG>AAT	p.K482N	DTNA_uc010xbx.1_Missense_Mutation_p.K232N|DTNA_uc002kxv.3_Missense_Mutation_p.K425N|DTNA_uc002kxw.2_Missense_Mutation_p.K425N|DTNA_uc010dmj.2_Missense_Mutation_p.K422N|DTNA_uc002kxz.2_Missense_Mutation_p.K422N|DTNA_uc002kxy.2_Missense_Mutation_p.K422N|DTNA_uc010dml.2_Missense_Mutation_p.K422N|DTNA_uc002kyb.3_Missense_Mutation_p.K479N|DTNA_uc010dmm.2_Missense_Mutation_p.K482N|DTNA_uc010xby.1_Missense_Mutation_p.K172N|DTNA_uc010dmo.2_Missense_Mutation_p.K104N|DTNA_uc002kyd.3_Missense_Mutation_p.K104N|DTNA_uc010xbz.1_Missense_Mutation_p.K191N|DTNA_uc010xca.1_Missense_Mutation_p.K134N|DTNA_uc002kye.2_Missense_Mutation_p.K130N	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	482	Potential.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0						TAGAAAACAAGAACAGGTGAG	0.453													T	32431887	G	T	32431887	3	4	104	1	0	0	0	0	1	0	0	0	4788	933	33	5	1535	5	DTNA	18	32431887	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	832455	32431887	45645361	5845	72459											
ZNF397OS	100101467	broad.mit.edu	37	chr18	32833515	32833515	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcttctctccagtgtgaaTtctctggtgctgggtgaggg	15	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:32833515T>G	uc002kym.2	-	4	1612	c.1384A>C	c.(1384-1386)ATT>CTT	p.I462L	ZNF397_uc010dmq.2_Intron|ZNF397_uc010dmr.2_Intron|ZNF397_uc002kyj.2_Intron|ZNF397OS_uc002kyl.2_Missense_Mutation_p.E49D|ZNF397OS_uc010xce.1_Missense_Mutation_p.I462L	NM_001112734	NP_001106205	Q86W11	ZSC30_HUMAN	zinc finger protein 397 opposite strand	462	C2H2-type 6.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CCAGTGTGAATTCTCTGGTGC	0.408													G	32833515	T	G	32833515	3	3	104	1	0	0	0	0	1	0	0	0	17881	1493	52	5	104	5	ZNF397OS	18	32833515	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	401628	32833515	45243733	5846	72460											
ZNF397	84307	broad.mit.edu	37	chr18	32837896	32837896	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctctccattacagatttTtcctgaagaacacatcgtca	4	12	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:32837896T>C	uc002kyj.2	+	6	957	c.822T>C	c.(820-822)TTT>TTC	p.F274F	ZNF397_uc010dmq.2_Silent_p.F244F|ZNF397_uc010dmr.2_RNA|ZNF397OS_uc002kym.2_Intron|ZNF397OS_uc010xce.1_Intron	NM_032347	NP_115723	Q8NF99	ZN397_HUMAN	zinc finger protein 397 isoform 2	Error:Variant_position_missing_in_Q8NF99_after_alignment					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ttacagatttttcctgaagaa	0.08													C	32837896	T	C	32837896	2	2	104	1	0	0	0	0	0	0	0	1	17880	1838	64	3		3	ZNF397	18	32837896	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	4381	32837896	45239352	5847	72461											
SLC39A6	25800	broad.mit.edu	37	chr18	33689577	33689577	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagaaatttatacgaaacacGattttatgttcaaatatgga	6	4	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:33689577G>A	uc010dmy.2	-	10	2537	c.2247C>T	c.(2245-2247)ATC>ATT	p.I749I		NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	749	Extracellular (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2						TACGAAACACGATTTTATGTT	0.348													A	33689577	G	A	33689577	2	1	104	1	0	0	0	0	0	0	0	1	14622	1048	37	1		1	SLC39A6	18	33689577	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	851681	33689577	44387671	5848	72462											
SLC39A6	25800	broad.mit.edu	37	chr18	33706546	33706546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtctgggcaaagagcttttCgcttatttttaccagaagca	10	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:33706546C>T	uc010dmy.2	-	2	715	c.425G>A	c.(424-426)CGA>CAA	p.R142Q	SLC39A6_uc002kzj.2_Intron	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	142	Extracellular (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2						AAGAGCTTTTCGCTTATTTTT	0.294													T	33706546	C	T	33706546	3	4	104	1	0	0	0	0	1	0	0	0	14622	884	31	1	1890	1	SLC39A6	18	33706546	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	16969	33706546	44370702	5849	72463											
ELP2	55250	broad.mit.edu	37	chr18	33726217	33726217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctgttattgtacaggttcGagtaggtgaagtaggtggga	16	3	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:33726217G>A	uc002kzk.1	+	11	1008	c.998G>A	c.(997-999)CGA>CAA	p.R333Q	ELP2_uc010xcg.1_Missense_Mutation_p.R398Q|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.R307Q|ELP2_uc010xch.1_Intron|ELP2_uc002kzn.1_Intron|ELP2_uc002kzo.1_Missense_Mutation_p.R263Q	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	333					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4						GTACAGGTTCGAGTAGGTGAA	0.398													A	33726217	G	A	33726217	3	1	104	1	0	0	0	0	1	0	0	0	5080	1058	37	1	1040	1	ELP2	18	33726217	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	19671	33726217	44351031	5850	72464											
MOCOS	55034	broad.mit.edu	37	chr18	33840070	33840070	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttttcgtgccaatattattAtcaatggaaaaagggctttt	8	5	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:33840070A>C	uc002kzq.3	+	13	2364	c.2341A>C	c.(2341-2343)ATC>CTC	p.I781L		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	781	MOSC.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	CAATATTATTATCAATGGAAA	0.383													C	33840070	A	C	33840070	3	2	104	1	0	0	0	0	1	0	0	0	9689	449	16	5	2391	5	MOCOS	18	33840070	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	113853	33840070	44237178	5851	72465											
C18orf10	25941	broad.mit.edu	37	chr18	34376819	34376819	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggatttagaagtggaggaAgtggagggaccggagggtcc	20	4	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:34376819A>C	uc002kzw.1	-	7	1280	c.852T>G	c.(850-852)ACT>ACG	p.T284T	C18orf10_uc002kzv.1_Intron|C18orf10_uc010xci.1_Silent_p.T249T|C18orf10_uc002kzx.1_Silent_p.T241T	NM_015476	NP_056291	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	284						cytoplasm|microtubule				skin(1)	1						AAGTGGAGGAAGTGGAGGGAC	0.562													C	34376819	A	C	34376819	2	2	104	1	0	0	0	0	0	0	0	1	1895	59	3	5		5	C18orf10	18	34376819	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	536749	34376819	43700429	5852	72466											
CELF4	56853	broad.mit.edu	37	chr18	34854414	34854414	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccaccagactggacgaggCtccctgcggccggggcggcg	17	15	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:34854414C>A	uc002lae.2	-	6	1057	c.661G>T	c.(661-663)GCC>TCC	p.A221S	CELF4_uc010dnd.1_Missense_Mutation_p.A220S|CELF4_uc002lag.2_Missense_Mutation_p.A211S|CELF4_uc002laf.2_Missense_Mutation_p.A216S|CELF4_uc002lai.2_Missense_Mutation_p.A206S|CELF4_uc002lah.1_5'Flank|CELF4_uc002laj.1_Missense_Mutation_p.S56I	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	221	Sufficient for RNA-binding and MSE- dependent splicing activity.|RRM 2.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						CTGGACGAGGCTCCCTGCGGC	0.701													A	34854414	C	A	34854414	3	1	104	1	0	0	0	0	1	0	0	0	3218	797	28	5	827	5	CELF4	18	34854414	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	477595	34854414	43222834	5853	72467											
PIK3C3	5289	broad.mit.edu	37	chr18	39537548	39537548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcagaggaagcttggaaGggaagagagaacaaaagagt	14	4	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:39537548G>A	uc002lap.2	+	2	140	c.82G>A	c.(82-84)GGG>AGG	p.G28R	PIK3C3_uc010xcl.1_Intron|PIK3C3_uc002lao.2_Missense_Mutation_p.G28R	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	28					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10						AAGCTTGGAAGGGAAGAGAGA	0.363										TSP Lung(28;0.18)			A	39537548	G	A	39537548	3	1	104	1	0	0	0	0	1	0	0	0	11912	1000	35	4	88	4	PIK3C3	18	39537548	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4683134	39537548	38539700	5854	72468											
PIK3C3	5289	broad.mit.edu	37	chr18	39593453	39593453	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggctctcaaatatgaAaattttgatgatataaagaa	7	5	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:39593453A>C	uc002lap.2	+	11	1276	c.1218A>C	c.(1216-1218)GAA>GAC	p.E406D	PIK3C3_uc010xcl.1_Missense_Mutation_p.E343D	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	406					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10						TCAAATATGAAAATTTTGATG	0.303										TSP Lung(28;0.18)			C	39593453	A	C	39593453	3	2	104	1	0	0	0	0	1	0	0	0	11912	11	1	5	1260	5	PIK3C3	18	39593453	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	55905	39593453	38483795	5855	72469											
SETBP1	26040	broad.mit.edu	37	chr18	42532601	42532601	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acctcagttccacacaaactCccacgtaaagatgtccggtg	7	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:42532601C>A	uc010dni.2	+	4	3592	c.3296C>A	c.(3295-3297)TCC>TAC	p.S1099Y		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1099						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CACACAAACTCCCACGTAAAG	0.542									Schinzel-Giedion_syndrome				A	42532601	C	A	42532601	3	1	104	1	0	0	0	0	1	0	0	0	14129	855	30	5	3499	5	SETBP1	18	42532601	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2939148	42532601	35544647	5856	72470											
KIAA1632	57724	broad.mit.edu	37	chr18	43459029	43459029	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaacaggtcatttctaagtCaatcagccttttcacaaggt	6	10	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:43459029C>A	uc002lbm.2	-	33	5918	c.5818G>T	c.(5818-5820)GAC>TAC	p.D1940Y	KIAA1632_uc010xcq.1_Missense_Mutation_p.D494Y|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.D815Y	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1940					autophagy						0						ATTTCTAAGTCAATCAGCCTT	0.418													A	43459029	C	A	43459029	3	1	104	1	0	0	0	0	1	0	0	0	8249	826	29	5	1969	5	KIAA1632	18	43459029	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	926428	43459029	34618219	5857	72471											
KIAA1632	57724	broad.mit.edu	37	chr18	43502362	43502362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagccaatgggcatgcccgCtttcacagccttcaagagag	10	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:43502362C>T	uc002lbm.2	-	16	3143	c.3043G>A	c.(3043-3045)GCG>ACG	p.A1015T	KIAA1632_uc002lbo.1_Missense_Mutation_p.A1015T	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1015					autophagy						0						GGCATGCCCGCTTTCACAGCC	0.507													T	43502362	C	T	43502362	3	4	104	1	0	0	0	0	1	0	0	0	8249	797	28	2	4812	2	KIAA1632	18	43502362	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	43333	43502362	34574886	5858	72472											
KIAA1632	57724	broad.mit.edu	37	chr18	43519684	43519684	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttggttatggctcacatActgtgcccaatggtcactta	9	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:43519684A>G	uc002lbm.2	-	10	2081	c.1981T>C	c.(1981-1983)TAT>CAT	p.Y661H	KIAA1632_uc002lbo.1_Missense_Mutation_p.Y661H	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	661					autophagy						0						TGGCTCACATACTGTGCCCAA	0.418													G	43519684	A	G	43519684	3	3	104	1	0	0	0	0	1	0	0	0	8249	391	14	3	5898	3	KIAA1632	18	43519684	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	17322	43519684	34557564	5859	72473											
TCEB3B	51224	broad.mit.edu	37	chr18	44561339	44561339	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtcctgaagagcctccccGaagcgctgtcgggaagcgct	14	13	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:44561339G>A	uc002lcr.1	-	1	650	c.297C>T	c.(295-297)TTC>TTT	p.F99F	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	99					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GAGCCTCCCCGAAGCGCTGTC	0.657													A	44561339	G	A	44561339	2	1	104	1	0	0	0	0	0	0	0	1	15679	1049	37	1		1	TCEB3B	18	44561339	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1041655	44561339	33515909	5860	72474											
HDHD2	84064	broad.mit.edu	37	chr18	44662730	44662730	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttaagagcttcctgtgcGcctggcacagctgcatcttc	9	13	1	1	rs147000827		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:44662730G>A	uc002lcs.2	-	2	214	c.81C>T	c.(79-81)GGC>GGT	p.G27G	HDHD2_uc002lct.2_5'UTR	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain	27							hydrolase activity				0						CTTCCTGTGCGCCTGGCACAG	0.463													A	44662730	G	A	44662730	2	1	104	1	0	0	0	0	0	0	0	1	7023	1074	38	1		1	HDHD2	18	44662730	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	101391	44662730	33414518	5861	72475											
RPL17	6139	broad.mit.edu	37	chr18	47014895	47014895	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttaatgctgaatttactcCcgtgccataagtttttgttt	6	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:47014895C>T	uc002ldo.2	-	6	818	c.549G>A	c.(547-549)CGG>CGA	p.R183R	C18orf32_uc002ldk.1_5'Flank|C18orf32_uc002ldl.2_5'Flank|C18orf32_uc002ldm.1_Intron|RPL17_uc002ldn.2_Silent_p.R145R|RPL17_uc002ldp.2_Silent_p.R183R|RPL17_uc002ldq.2_Silent_p.R183R|RPL17_uc010xdg.1_Silent_p.R145R	NM_001035006	NP_001030178	P18621	RL17_HUMAN	ribosomal protein L17	183					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome				0						GAATTTACTCCCGTGCCATAA	0.328													T	47014895	C	T	47014895	2	4	104	1	0	0	0	0	0	0	0	1	13563	610	22	4		4	RPL17	18	47014895	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2352165	47014895	31062353	5862	72476											
MAPK4	5596	broad.mit.edu	37	chr18	48241532	48241532	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aataactacaccaaagccatCgacatgtgggccgccggctg	10	13	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:48241532C>T	uc002lev.2	+	3	1630	c.630C>T	c.(628-630)ATC>ATT	p.I210I	MAPK4_uc010xdm.1_5'UTR|MAPK4_uc010doz.2_Silent_p.I210I	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	210	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)		CCAAAGCCATCGACATGTGGG	0.517													T	48241532	C	T	48241532	2	4	104	1	0	0	0	0	0	0	0	1	9280	874	31	1		1	MAPK4	18	48241532	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1226637	48241532	29835716	5863	72477											
DCC	1630	broad.mit.edu	37	chr18	50451736	50451736	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcctctgcagagctcacagtCttgggtaagttagtggctgg	14	9	3	1	rs147124029		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:50451736C>T	uc002lfe.1	+	5	1568	c.981C>T	c.(979-981)GTC>GTT	p.V327V	DCC_uc010xdr.1_Silent_p.V175V	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	327	Extracellular (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCTCACAGTCTTGGGTAAGT	0.373													T	50451736	C	T	50451736	2	4	104	1	0	0	0	0	0	0	0	1	4282	900	32	4		4	DCC	18	50451736	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2210204	50451736	27625512	5864	72478											
POLI	11201	broad.mit.edu	37	chr18	51820532	51820532	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaataagtcaaggacctaaaGaacctcaaggattccacttt	7	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:51820532G>T	uc002lfj.3	+	10	1986	c.1918G>T	c.(1918-1920)GAA>TAA	p.E640*	POLI_uc010xds.1_Nonsense_Mutation_p.E561*|POLI_uc002lfk.3_Nonsense_Mutation_p.E537*|POLI_uc010dpg.2_Nonsense_Mutation_p.E236*	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	DNA polymerase iota	640					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			ovary(2)|kidney(1)	3				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AGGACCTAAAGAACCTCAAGG	0.348								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	51820532	G	T	51820532	4	4	104	1	0	0	0	0	0	1	0	0	12203	943	33	5	1956	5	POLI	18	51820532	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1368796	51820532	26256716	5865	72479											
STARD6	147323	broad.mit.edu	37	chr18	51851142	51851142	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttttgcattgaggatgaAgtttactaagttggaaggca	11	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:51851142A>C	uc010xdt.1	-	6	583	c.583T>G	c.(583-585)TTC>GTC	p.F195V		NM_139171	NP_631910	P59095	STAR6_HUMAN	START domain containing protein 6	195	START.				lipid transport		lipid binding			ovary(1)	1				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TTGAGGATGAAGTTTACTAAG	0.373													C	51851142	A	C	51851142	3	2	104	1	0	0	0	0	1	0	0	0	15260	72	3	5	82	5	STARD6	18	51851142	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	30610	51851142	26226106	5866	72480											
C18orf54	162681	broad.mit.edu	37	chr18	51886948	51886948	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactttgaagaagccatggcGaaatcaaagacaaaacatag	8	8	1	3	rs139710634	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:51886948G>A	uc002lfn.3	+	2	122	c.6G>A	c.(4-6)GCG>GCA	p.A2A	C18orf54_uc002lfo.3_Silent_p.A2A	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	hypothetical protein LOC162681 precursor	2						extracellular region				ovary(1)|skin(1)	2				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		AAGCCATGGCGAAATCAAAGA	0.378													A	51886948	G	A	51886948	2	1	104	1	0	0	0	0	0	0	0	1	1904	1045	37	1		1	C18orf54	18	51886948	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	35806	51886948	26190300	5867	72481											
NARS	4677	broad.mit.edu	37	chr18	55282941	55282941	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcttcttccaggttcttttCtcttcgtaaactatcttctg	5	11	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:55282941C>T	uc002lgs.2	-	4	502	c.274G>A	c.(274-276)GAA>AAA	p.E92K	NARS_uc002lgt.2_Missense_Mutation_p.E91K|NARS_uc010xea.1_5'UTR|NARS_uc010xeb.1_RNA|NARS_uc010xec.1_Missense_Mutation_p.E92K|NARS_uc010xed.1_Missense_Mutation_p.E59K	NM_004539	NP_004530	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	92					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding				0		Colorectal(73;0.227)			L-Asparagine(DB00174)	AGGTTCTTTTCTCTTCGTAAA	0.368													T	55282941	C	T	55282941	3	4	104	1	0	0	0	0	1	0	0	0	10170	922	32	4	1416	4	NARS	18	55282941	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3395993	55282941	22794307	5868	72482											
ATP8B1	5205	broad.mit.edu	37	chr18	55336558	55336558	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctaaaactcacaattaagtCtttttcaatctcctcatata	2	10	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:55336558C>A	uc002lgw.2	-	17	2089	c.2089G>T	c.(2089-2091)GAC>TAC	p.D697Y	uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	697	Cytoplasmic (Potential).		Missing (in PFIC1).		ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				ACAATTAAGTCTTTTTCAATC	0.313									Byler_disease				A	55336558	C	A	55336558	3	1	104	1	0	0	0	0	1	0	0	0	1194	913	32	5	1710	5	ATP8B1	18	55336558	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	53617	55336558	22740690	5869	72483											
ALPK2	115701	broad.mit.edu	37	chr18	56204821	56204821	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgaagtctcagacacttgTgtctgaaaaaagacttccag	8	9	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:56204821T>C	uc002lhj.3	-	5	2812	c.2598A>G	c.(2596-2598)ACA>ACG	p.T866T	ALPK2_uc002lhk.1_Silent_p.T197T	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	866							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						CAGACACTTGTGTCTGAAAAA	0.408													C	56204821	T	C	56204821	2	2	104	1	0	0	0	0	0	0	0	1	545	1683	59	3		3	ALPK2	18	56204821	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	868263	56204821	21872427	5870	72484											
LMAN1	3998	broad.mit.edu	37	chr18	57013239	57013239	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtgctcaaattcctcctgAtacttttctttttccttttc	3	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:57013239A>C	uc002lhz.2	-	8	899	c.867T>G	c.(865-867)TAT>TAG	p.Y289*		NM_005570	NP_005561	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1 precursor	289	Lumenal (Potential).				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			skin(1)	1		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	ATTCCTCCTGATACTTTTCTT	0.373													C	57013239	A	C	57013239	4	2	104	1	0	0	0	0	0	1	0	0	8836	340	12	5	689	5	LMAN1	18	57013239	Nonsense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	808418	57013239	21064009	5871	72485											
KIAA1468	57614	broad.mit.edu	37	chr18	59895681	59895681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagttcagacaagggaaaaaAcacagacatccatctttcaa	6	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:59895681A>G	uc002lil.2	+	8	1513	c.1298A>G	c.(1297-1299)AAC>AGC	p.N433S	KIAA1468_uc002lik.1_Missense_Mutation_p.N433S|KIAA1468_uc010xel.1_Missense_Mutation_p.N433S|KIAA1468_uc002lim.2_Missense_Mutation_p.N77S	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	433							binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				AAGGGAAAAAACACAGACATC	0.433													G	59895681	A	G	59895681	3	3	104	1	0	0	0	0	1	0	0	0	8236	43	2	3	1328	3	KIAA1468	18	59895681	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2882442	59895681	18181567	5872	72486											
KDSR	2531	broad.mit.edu	37	chr18	61022741	61022741	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacctcttacttgttttatgAcattctctacttggttatag	5	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:61022741A>G	uc010dpw.2	-	4	466	c.311T>C	c.(310-312)GTC>GCC	p.V104A	KDSR_uc010xem.1_Missense_Mutation_p.V104A	NM_002035	NP_002026	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase precursor	104	Cytoplasmic (Potential).				3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			skin(1)	1						TTGTTTTATGACATTCTCTAC	0.363													G	61022741	A	G	61022741	3	3	104	1	0	0	0	0	1	0	0	0	8140	275	10	3	715	3	KDSR	18	61022741	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1127060	61022741	17054507	5873	72487											
SERPINB13	5275	broad.mit.edu	37	chr18	61261591	61261591	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttcttcatttgcagaaAaaatcaaggacttgttccca	6	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:61261591A>C	uc002ljc.2	+	6	643	c.475A>C	c.(475-477)AAA>CAA	p.K159Q	SERPINB13_uc002ljd.2_Missense_Mutation_p.K23Q|SERPINB13_uc010xep.1_Missense_Mutation_p.K168Q|SERPINB13_uc010xeq.1_5'UTR|SERPINB13_uc010xer.1_5'UTR	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	serine (or cysteine) proteinase inhibitor, clade	159					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1						ATTTGCAGAAAAAATCAAGGA	0.373													C	61261591	A	C	61261591	3	2	104	1	0	0	0	0	1	0	0	0	14100	15	1	5	493	5	SERPINB13	18	61261591	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	238850	61261591	16815657	5874	72488											
SERPINB2	5055	broad.mit.edu	37	chr18	61558832	61558832	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctccaggggcagcaccgaaGaccagatggccaaggtgagt	15	11	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:61558832G>T	uc010xeu.1	+	3	487	c.154G>T	c.(154-156)GAC>TAC	p.D52Y	SERPINB2_uc002ljo.2_Missense_Mutation_p.D52Y|SERPINB2_uc010dqh.2_5'UTR	NM_001143818	NP_001137290	P05120	PAI2_HUMAN	serine (or cysteine) proteinase inhibitor, clade	52					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			lung(1)|skin(1)	2		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CAGCACCGAAGACCAGATGGC	0.527													T	61558832	G	T	61558832	3	4	104	1	0	0	0	0	1	0	0	0	14101	942	33	5	156	5	SERPINB2	18	61558832	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	297241	61558832	16518416	5875	72489											
SERPINB2	5055	broad.mit.edu	37	chr18	61570322	61570322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccaatttctcagggatgtCggagaggaatgacctgtttc	13	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:61570322C>T	uc010xeu.1	+	9	1364	c.1031C>T	c.(1030-1032)TCG>TTG	p.S344L	SERPINB2_uc002ljo.2_Missense_Mutation_p.S344L|SERPINB2_uc010dqh.2_Missense_Mutation_p.S274L|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	NM_001143818	NP_001137290	P05120	PAI2_HUMAN	serine (or cysteine) proteinase inhibitor, clade	344					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			lung(1)|skin(1)	2		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCAGGGATGTCGGAGAGGAAT	0.502													T	61570322	C	T	61570322	3	4	104	1	0	0	0	0	1	0	0	0	14101	893	31	1	1057	1	SERPINB2	18	61570322	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	11490	61570322	16506926	5876	72490											
SERPINB10	5273	broad.mit.edu	37	chr18	61582874	61582874	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccttgaccatagtgtatTtgggcgccaaaggtaccact	9	11	0	1	rs138905204		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:61582874T>G	uc010xev.1	+	2	220	c.130T>G	c.(130-132)TTG>GTG	p.L44V	SERPINB2_uc002ljp.1_Missense_Mutation_p.L185V|SERPINB2_uc002ljq.1_Missense_Mutation_p.L158V|SERPINB10_uc010xew.1_Missense_Mutation_p.L44V	NM_005024	NP_005015	P48595	SPB10_HUMAN	serine (or cysteine) proteinase inhibitor, clade	44						cytoplasm|nucleus	serine-type endopeptidase inhibitor activity			lung(1)|kidney(1)|skin(1)	3		Esophageal squamous(42;0.131)				CATAGTGTATTTGGGCGCCAA	0.443													G	61582874	T	G	61582874	3	3	104	1	0	0	0	0	1	0	0	0	14097	1838	64	5	132	5	SERPINB10	18	61582874	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	12552	61582874	16494374	5877	72491											
CDH7	1005	broad.mit.edu	37	chr18	63430218	63430218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaggtcccggaccaagcGcagctgggtgtggaatcagt	17	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:63430218G>A	uc002ljz.2	+	2	465	c.140G>A	c.(139-141)CGC>CAC	p.R47H	CDH7_uc002lka.2_Missense_Mutation_p.R47H|CDH7_uc002lkb.2_Missense_Mutation_p.R47H	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	47	Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				CGGACCAAGCGCAGCTGGGTG	0.473													A	63430218	G	A	63430218	3	1	104	1	0	0	0	0	1	0	0	0	3115	1087	38	1	142	1	CDH7	18	63430218	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1847344	63430218	14647030	5878	72492											
CDH19	28513	broad.mit.edu	37	chr18	64176344	64176344	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcccactgtcaccacaGtcacagacatggatggtaag	10	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:64176344G>A	uc002lkc.1	-	11	1854	c.1716C>T	c.(1714-1716)GAC>GAT	p.D572D	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Intron	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	572	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				TGTCACCACAGTCACAGACAT	0.453													A	64176344	G	A	64176344	2	1	104	1	0	0	0	0	0	0	0	1	3104	1020	36	4		4	CDH19	18	64176344	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	746126	64176344	13900904	5879	72493											
DSEL	92126	broad.mit.edu	37	chr18	65179358	65179358	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctctgtccttgtccattTtgcacaaatgggctgactac	8	12	1	1	rs112650435		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:65179358T>C	uc002lke.1	-	2	3742	c.2518A>G	c.(2518-2520)AAA>GAA	p.K840E		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	830						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				CTTGTCCATTTTGCACAAATG	0.423													C	65179358	T	C	65179358	3	2	104	1	0	0	0	0	1	0	0	0	4775	1850	64	3	1154	3	DSEL	18	65179358	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1003014	65179358	12897890	5880	72494											
DSEL	92126	broad.mit.edu	37	chr18	65181050	65181050	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaccatcaacaatatgatTcaatagaaacattgtctttt	4	7	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:65181050T>C	uc002lke.1	-	2	2050	c.826A>G	c.(826-828)AAT>GAT	p.N276D		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	266						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				ACAATATGATTCAATAGAAAC	0.418													C	65181050	T	C	65181050	3	2	104	1	0	0	0	0	1	0	0	0	4775	1783	62	3	2846	3	DSEL	18	65181050	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1692	65181050	12896198	5881	72495											
SOCS6	9306	broad.mit.edu	37	chr18	67993118	67993118	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcaaacgtgccagatggttCttttcttgttcgggacagtt	11	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:67993118C>A	uc002lkr.1	+	2	1530	c.1214C>A	c.(1213-1215)TCT>TAT	p.S405Y	SOCS6_uc010dqq.2_Missense_Mutation_p.S405Y	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	405	SH2.				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)|lung(1)	2		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CCAGATGGTTCTTTTCTTGTT	0.468													A	67993118	C	A	67993118	3	1	104	1	0	0	0	0	1	0	0	0	14918	913	32	5	1216	5	SOCS6	18	67993118	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2812068	67993118	10084130	5882	72496											
CNDP1	84735	broad.mit.edu	37	chr18	72229308	72229308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttatggacgaggagcgaccGacaacaaaggccctgtcttg	12	10	1	0	rs146707393	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:72229308G>A	uc002llq.2	+	5	704	c.493G>A	c.(493-495)GAC>AAC	p.D165N	uc002llr.2_5'Flank	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	carnosinase 1 precursor	165		Zinc 1 (By similarity).|Zinc 2 (By similarity).		D->A: Loss of activity.	proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity				0		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		AGGAGCGACCGACAACAAAGG	0.507													A	72229308	G	A	72229308	3	1	104	1	0	0	0	0	1	0	0	0	3593	1058	37	1	511	1	CNDP1	18	72229308	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4236190	72229308	5847940	5883	72497											
ZNF236	7776	broad.mit.edu	37	chr18	74627729	74627729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttttgtgaggagggtttccGaactacagtgcattgtaaaa	12	5	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:74627729G>A	uc002lmi.2	+	19	3380	c.3182G>A	c.(3181-3183)CGA>CAA	p.R1061Q	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1061	C2H2-type 21.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GAGGGTTTCCGAACTACAGTG	0.493													A	74627729	G	A	74627729	3	1	104	1	0	0	0	0	1	0	0	0	17786	1058	37	1	3256	1	ZNF236	18	74627729	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2398421	74627729	3449519	5884	72498											
SALL3	27164	broad.mit.edu	37	chr18	76753496	76753496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcatcccctacggcatgtCgctgccccccgagaagcccg	12	18	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:76753496C>T	uc002lmt.2	+	2	1505	c.1505C>T	c.(1504-1506)TCG>TTG	p.S502L	SALL3_uc010dra.2_Missense_Mutation_p.S109L	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TACGGCATGTCGCTGCCCCCC	0.667													T	76753496	C	T	76753496	3	4	104	1	0	0	0	0	1	0	0	0	13812	893	31	1	1511	1	SALL3	18	76753496	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2125767	76753496	1323752	5885	72499											
NFATC1	4772	broad.mit.edu	37	chr18	77211696	77211696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagcgctcagctcaggagCtgcctctggtggagaagcag	14	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:77211696C>T	uc010xfg.1	+	6	2236	c.1783C>T	c.(1783-1785)CTG>TTG	p.L595L	NFATC1_uc002lnc.1_Silent_p.L595L|NFATC1_uc010xff.1_Silent_p.S566S|NFATC1_uc002lnd.2_Silent_p.L595L|NFATC1_uc002lne.2_Silent_p.L123L|NFATC1_uc010xfh.1_Silent_p.L595L|NFATC1_uc010xfi.1_Silent_p.L582L|NFATC1_uc010xfj.1_Silent_p.L123L|NFATC1_uc002lnf.2_Silent_p.L582L|NFATC1_uc002lng.2_Silent_p.L582L|NFATC1_uc010xfk.1_Silent_p.L582L	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	595					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		AGCTCAGGAGCTGCCTCTGGT	0.637													T	77211696	C	T	77211696	2	4	104	1	0	0	0	0	0	0	0	1	10361	796	28	2		2	NFATC1	18	77211696	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	458200	77211696	865552	5886	72500											
NFATC1	4772	broad.mit.edu	37	chr18	77246279	77246279	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaacagaacccactgatgaTtatgagcctgctccaacctg	7	12	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:77246279T>G	uc010xfg.1	+	9	2577	c.2124T>G	c.(2122-2124)GAT>GAG	p.D708E	NFATC1_uc002lnd.2_Missense_Mutation_p.D708E|NFATC1_uc002lne.2_Missense_Mutation_p.D236E|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfj.1_Missense_Mutation_p.D236E|NFATC1_uc002lnf.2_Missense_Mutation_p.D695E|NFATC1_uc002lng.2_Missense_Mutation_p.D695E|NFATC1_uc010xfk.1_Intron	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	708	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCACTGATGATTATGAGCCTG	0.488													G	77246279	T	G	77246279	3	3	104	1	0	0	0	0	1	0	0	0	10361	1490	52	5	2309	5	NFATC1	18	77246279	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	34583	77246279	830969	5887	72501											
CTDP1	9150	broad.mit.edu	37	chr18	77456022	77456022	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggtgccgctgtccacggcGaccgtgtccatggtgcacag	14	14	0	0	rs147215606		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:77456022G>A	uc002lnh.1	+	3	591	c.444G>A	c.(442-444)GCG>GCA	p.A148A	CTDP1_uc002lni.1_Silent_p.A148A|CTDP1_uc010drd.1_Silent_p.A148A	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	148					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TGTCCACGGCGACCGTGTCCA	0.622													A	77456022	G	A	77456022	2	1	104	1	0	0	0	0	0	0	0	1	4002	1045	37	1		1	CTDP1	18	77456022	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	209743	77456022	621226	5888	72502											
KCNG2	26251	broad.mit.edu	37	chr18	77623869	77623869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actacgacgtgagccgcgacGagttcttcttcgaccgcagc	11	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr18:77623869G>A	uc010xfl.1	+	1	202	c.202G>A	c.(202-204)GAG>AAG	p.E68K		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	68	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GAGCCGCGACGAGTTCTTCTT	0.731													A	77623869	G	A	77623869	3	1	104	1	0	0	0	0	1	0	0	0	8028	1059	37	1	204	1	KCNG2	18	77623869	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	167847	77623869	453379	5889	72503											
ABCA7	10347	broad.mit.edu	37	chr19	1053340	1053340	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacacaggcactcctcagcTgctggccctggtacagcact	9	17	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:1053340T>G	uc002lqw.3	+	24	3464	c.3233T>G	c.(3232-3234)CTG>CGG	p.L1078R	ABCA7_uc010dsb.1_Missense_Mutation_p.L940R	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1078					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTCCTCAGCTGCTGGCCCTG	0.682													G	1053340	T	G	1053340	3	3	104	1	0	0	0	0	1	0	0	0	37	1580	55	5	3323	5	ABCA7	19	1053340	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08		1053340	58075643	5890	72504											
APC2	10297	broad.mit.edu	37	chr19	1453554	1453554	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccgggccctccaaggacagCtttggggagctgagccgggc	16	13	0	1	rs61735595		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:1453554C>A	uc002lsr.1	+	4	565	c.357C>A	c.(355-357)AGC>AGA	p.S119R	APC2_uc002lss.1_5'UTR|APC2_uc002lst.1_Missense_Mutation_p.S119R|APC2_uc002lsu.1_Missense_Mutation_p.S119R	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	119					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAAGGACAGCTTTGGGGAGC	0.701													A	1453554	C	A	1453554	3	1	104	1	0	0	0	0	1	0	0	0	764	796	28	5	367	5	APC2	19	1453554	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	400214	1453554	57675429	5891	72505											
APC2	10297	broad.mit.edu	37	chr19	1466116	1466116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgacgggtactgcccacGcgaacatatgctgccctgcc	11	16	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:1466116G>A	uc002lsr.1	+	15	3024	c.2816G>A	c.(2815-2817)CGC>CAC	p.R939H	APC2_uc002lss.1_Missense_Mutation_p.R521H|APC2_uc002lst.1_Missense_Mutation_p.R939H|APC2_uc002lsu.1_Missense_Mutation_p.R938H|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	939					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACTGCCCACGCGAACATATG	0.721													A	1466116	G	A	1466116	3	1	104	1	0	0	0	0	1	0	0	0	764	1087	38	1	2870	1	APC2	19	1466116	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	12562	1466116	57662867	5892	72506											
ATP8B3	148229	broad.mit.edu	37	chr19	1800271	1800271	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactcacaggatgaacatggAcatcgggatggtgacgctga	14	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:1800271A>G	uc002ltw.2	-	13	1564	c.1330T>C	c.(1330-1332)TCC>CCC	p.S444P	ATP8B3_uc002ltv.2_Missense_Mutation_p.S397P|ATP8B3_uc002ltx.2_RNA|ATP8B3_uc002lty.1_Missense_Mutation_p.S192P|ATP8B3_uc002ltz.1_Missense_Mutation_p.S391P	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	444	Helical; (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGAACATGGACATCGGGATG	0.642													G	1800271	A	G	1800271	3	3	104	1	0	0	0	0	1	0	0	0	1196	275	10	3	2670	3	ATP8B3	19	1800271	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	334155	1800271	57328712	5893	72507											
TMPRSS9	360200	broad.mit.edu	37	chr19	2413960	2413960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcagcacccccaccaaatCgatgcaggccctcagtaccg	9	17	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:2413960C>T	uc010xgx.1	+	9	1415	c.1415C>T	c.(1414-1416)TCG>TTG	p.S472L	TMPRSS9_uc002lvv.1_Missense_Mutation_p.S506L	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	472	Extracellular (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCACCAAATCGATGCAGGCC	0.607													T	2413960	C	T	2413960	3	4	104	1	0	0	0	0	1	0	0	0	16250	893	31	1	1449	1	TMPRSS9	19	2413960	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	613689	2413960	56715023	5894	72508											
ZNF57	126295	broad.mit.edu	37	chr19	2916112	2916112	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taaagccaatgggtcagtttCtctgcaggatatgtacgggc	12	8	2	0	rs143620899	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:2916112C>A	uc002lwr.2	+	3	315	c.167C>A	c.(166-168)TCT>TAT	p.S56Y	ZNF57_uc010xha.1_Missense_Mutation_p.S24Y	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTCAGTTTCTCTGCAGGAT	0.358													A	2916112	C	A	2916112	3	1	104	1	0	0	0	0	1	0	0	0	17998	913	32	5	177	5	ZNF57	19	2916112	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	502152	2916112	56212871	5895	72509											
ZNF57	126295	broad.mit.edu	37	chr19	2917762	2917762	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtcctcaacgtttagagaAcatgtgagaattcacacgca	9	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:2917762A>G	uc002lwr.2	+	4	1291	c.1143A>G	c.(1141-1143)GAA>GAG	p.E381E	ZNF57_uc010xha.1_Silent_p.E349E	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	381	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTTTAGAGAACATGTGAGAA	0.448													G	2917762	A	G	2917762	2	3	104	1	0	0	0	0	0	0	0	1	17998	40	2	3		3	ZNF57	19	2917762	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1650	2917762	56211221	5896	72510											
TLE6	79816	broad.mit.edu	37	chr19	2989114	2989114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggccagatgccttgcccGggcagtcaaagagactcgcc	13	13	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:2989114G>A	uc002lwu.2	+	11	827	c.427G>A	c.(427-429)GGG>AGG	p.G143R	TLE6_uc002lwt.2_Missense_Mutation_p.G266R|TLE6_uc010dtg.2_Missense_Mutation_p.G266R|TLE6_uc002lwv.2_Missense_Mutation_p.G47R	NM_024760	NP_079036	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 isoform 2	143					regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCTTGCCCGGGCAGTCAAA	0.612													A	2989114	G	A	2989114	3	1	104	1	0	0	0	0	1	0	0	0	15939	1116	39	1	838	1	TLE6	19	2989114	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	71352	2989114	56139869	5897	72511											
GNA15	2769	broad.mit.edu	37	chr19	3155824	3155824	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctcggttccctgtaggatCgtggacgtcgggggccagaa	15	11	0	1	rs140382547		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:3155824C>T	uc002lxf.2	+	5	876	c.618C>T	c.(616-618)ATC>ATT	p.I206I		NM_002068	NP_002059	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein),	206					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			skin(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CCTGTAGGATCGTGGACGTCG	0.557													T	3155824	C	T	3155824	2	4	104	1	0	0	0	0	0	0	0	1	6503	874	31	1		1	GNA15	19	3155824	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	166710	3155824	55973159	5898	72512											
MATK	4145	broad.mit.edu	37	chr19	3779599	3779599	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggagacgcaccaggtTctcgtgttgcatcttcctgg	12	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:3779599T>C	uc002lyt.2	-	10	1259	c.859A>G	c.(859-861)AAC>GAC	p.N287D	MATK_uc002lyv.2_Missense_Mutation_p.N288D|MATK_uc002lyu.2_Missense_Mutation_p.N246D|MATK_uc010dtq.2_Missense_Mutation_p.N287D	NM_139355	NP_647612	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase isoform	287	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCACCAGGTTCTCGTGTTGC	0.706													C	3779599	T	C	3779599	3	2	104	1	0	0	0	0	1	0	0	0	9332	1783	62	3	684	3	MATK	19	3779599	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	623775	3779599	55349384	5899	72513											
FSD1	79187	broad.mit.edu	37	chr19	4310278	4310278	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctctctaggctgccaaGcaaatcaaagatgggtaaga	9	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:4310278G>A	uc002lzy.2	+	5	507	c.354G>A	c.(352-354)AAG>AAA	p.K118K	FSD1_uc010xie.1_Silent_p.K105K|FSD1_uc010xif.1_Missense_Mutation_p.A102T|FSD1_uc002lzz.2_Silent_p.K118K|FSD1_uc002maa.2_5'Flank	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing	118	COS.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCTGCCAAGCAAATCAAAG	0.388													A	4310278	G	A	4310278	2	1	104	1	0	0	0	0	0	0	0	1	6070	962	34	2		2	FSD1	19	4310278	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	530679	4310278	54818705	5900	72514											
SEMA6B	10501	broad.mit.edu	37	chr19	4557207	4557207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctccgtggacgtgggggGctccagctctacgcggtaga	16	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:4557207G>A	uc010duc.1	-	3	312	c.274C>T	c.(274-276)CCC>TCC	p.P92S	SEMA6B_uc010dud.2_Missense_Mutation_p.P92S|SEMA6B_uc010xih.1_Missense_Mutation_p.P92S	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	92	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GACGTGGGGGGCTCCAGCTCT	0.682													A	4557207	G	A	4557207	3	1	104	1	0	0	0	0	1	0	0	0	14040	1203	42	2	2448	2	SEMA6B	19	4557207	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	246929	4557207	54571776	5901	72515											
PLIN3	10226	broad.mit.edu	37	chr19	4859985	4859985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataggctgcggacaccatgtCgcaggtggagctgatcagag	15	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:4859985C>T	uc002mbj.2	-	3	295	c.118G>A	c.(118-120)GAC>AAC	p.D40N	PLIN3_uc002mbk.2_Missense_Mutation_p.D40N|PLIN3_uc002mbl.3_Missense_Mutation_p.D40N	NM_005817	NP_005808	O60664	PLIN3_HUMAN	mannose 6 phosphate receptor binding protein 1	40					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding				0					Galsulfase(DB01279)|Idursulfase(DB01271)	GACACCATGTCGCAGGTGGAG	0.622													T	4859985	C	T	4859985	3	4	104	1	0	0	0	0	1	0	0	0	12091	884	31	1	1210	1	PLIN3	19	4859985	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	302778	4859985	54268998	5902	72516											
ARRDC5	645432	broad.mit.edu	37	chr19	4891415	4891415	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtatgtgggcatacagggcGaatacgaccgtcttgatgca	13	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:4891415G>A	uc002mbm.2	-	3	672	c.672C>T	c.(670-672)TTC>TTT	p.F224F		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	224					signal transduction						0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CATACAGGGCGAATACGACCG	0.562													A	4891415	G	A	4891415	2	1	104	1	0	0	0	0	0	0	0	1	986	1049	37	1		1	ARRDC5	19	4891415	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	31430	4891415	54237568	5903	72517											
RANBP3	8498	broad.mit.edu	37	chr19	5917945	5917945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcgcagggccaggatgCggtggtgcagggctgcatac	19	10	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:5917945C>T	uc002mdw.2	-	16	1747	c.1520G>A	c.(1519-1521)CGC>CAC	p.R507H	RANBP3_uc002mdv.2_Missense_Mutation_p.R226H|RANBP3_uc002mdx.2_Missense_Mutation_p.R502H|RANBP3_uc002mdy.2_Missense_Mutation_p.R439H|RANBP3_uc002mdz.2_Missense_Mutation_p.R434H|RANBP3_uc010duq.2_Missense_Mutation_p.R412H|RANBP3_uc002mea.2_Missense_Mutation_p.R374H|RANBP3_uc010xix.1_Missense_Mutation_p.R379H	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	507	RanBD1.				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1						GGCCAGGATGCGGTGGTGCAG	0.682													T	5917945	C	T	5917945	3	4	104	1	0	0	0	0	1	0	0	0	13029	768	27	1	191	1	RANBP3	19	5917945	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1026530	5917945	53211038	5904	72518											
RFX2	5990	broad.mit.edu	37	chr19	5997113	5997113	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctctccggtggcctccgcGacgcggtgctccaccaggta	13	16	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:5997113G>A	uc002meb.2	-	16	2240	c.1971C>T	c.(1969-1971)GTC>GTT	p.V657V	RFX2_uc002mec.2_Silent_p.V632V	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						TGGCCTCCGCGACGCGGTGCT	0.692													A	5997113	G	A	5997113	2	1	104	1	0	0	0	0	0	0	0	1	13263	1045	37	1		1	RFX2	19	5997113	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	79168	5997113	53131870	5905	72519											
RFX2	5990	broad.mit.edu	37	chr19	6016224	6016224	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaggtagtggttgtaaagaGaacttctggggagactcaca	14	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:6016224G>T	uc002meb.2	-	7	925	c.656C>A	c.(655-657)TCT>TAT	p.S219Y	RFX2_uc002mec.2_Missense_Mutation_p.S194Y	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	219	RFX-type winged-helix.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						GTTGTAAAGAGAACTTCTGGG	0.512													T	6016224	G	T	6016224	3	4	104	1	0	0	0	0	1	0	0	0	13263	942	33	5	1563	5	RFX2	19	6016224	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	19111	6016224	53112759	5906	72520											
ACSBG2	81616	broad.mit.edu	37	chr19	6165951	6165951	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcatcgagagccagaaggcGaatcaatgcgcagtgctcat	12	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:6165951G>A	uc002mef.1	+	7	890	c.663G>A	c.(661-663)GCG>GCA	p.A221A	ACSBG2_uc002mee.1_Silent_p.A34A|ACSBG2_uc002meg.1_Silent_p.A221A|ACSBG2_uc002meh.1_Silent_p.A221A|ACSBG2_uc002mei.1_Silent_p.A171A|ACSBG2_uc010xiz.1_Silent_p.A221A	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	bubblegum-related acyl-CoA synthetase 2	221					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			ovary(1)	1						GCCAGAAGGCGAATCAATGCG	0.527											OREG0025194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	6165951	G	A	6165951	2	1	104	1	0	0	0	0	0	0	0	1	174	1045	37	1		1	ACSBG2	19	6165951	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	149727	6165951	52963032	5907	72521											
C3	718	broad.mit.edu	37	chr19	6684608	6684608	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttatggtgaccttgaggtcGaatttattacaggtgagttg	12	4	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:6684608G>A	uc002mfm.2	-	32	4145	c.4083C>T	c.(4081-4083)TTC>TTT	p.F1361F	C3_uc002mfl.2_Silent_p.F97F	NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	1361					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCTTGAGGTCGAATTTATTAC	0.483													A	6684608	G	A	6684608	2	1	104	1	0	0	0	0	0	0	0	1	2204	1049	37	1		1	C3	19	6684608	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	518657	6684608	52444375	5908	72522											
C3	718	broad.mit.edu	37	chr19	6707489	6707489	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcccacctttgtccattcGcttctccgtgagctgcacgg	9	16	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:6707489G>A	uc002mfm.2	-	16	2097	c.2035C>T	c.(2035-2037)CGA>TGA	p.R679*		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	679					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TTGTCCATTCGCTTCTCCGTG	0.682													A	6707489	G	A	6707489	4	1	104	1	0	0	0	0	0	1	0	0	2204	1095	38	1	3060	1	C3	19	6707489	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	22881	6707489	52421494	5909	72523											
C3	718	broad.mit.edu	37	chr19	6711129	6711129	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggtaattgttggagttgcCcacggtgctgtagggcagag	16	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:6711129C>A	uc002mfm.2	-	12	1410	c.1348G>T	c.(1348-1350)GGC>TGC	p.G450C		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	450					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TTGGAGTTGCCCACGGTGCTG	0.607													A	6711129	C	A	6711129	3	1	104	1	0	0	0	0	1	0	0	0	2204	623	22	5	3763	5	C3	19	6711129	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3640	6711129	52417854	5910	72524											
C3	718	broad.mit.edu	37	chr19	6712386	6712386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccacggggactcggtagGctggagagccatcagggttc	16	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:6712386G>A	uc002mfm.2	-	11	1213	c.1151C>T	c.(1150-1152)GCC>GTC	p.A384V		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	384					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GACTCGGTAGGCTGGAGAGCC	0.632													A	6712386	G	A	6712386	3	1	104	1	0	0	0	0	1	0	0	0	2204	1203	42	2	3964	2	C3	19	6712386	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1257	6712386	52416597	5911	72525											
EMR1	2015	broad.mit.edu	37	chr19	6908736	6908736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaataaataacatcttcagcGttctggacaaagtgtgtgaa	8	6	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:6908736G>A	uc002mfw.2	+	10	1113	c.1075G>A	c.(1075-1077)GTT>ATT	p.V359I	EMR1_uc010dvc.2_Missense_Mutation_p.V359I|EMR1_uc010dvb.2_Missense_Mutation_p.V307I|EMR1_uc010xji.1_Missense_Mutation_p.V218I|EMR1_uc010xjj.1_Missense_Mutation_p.V182I	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	359	Ser/Thr-rich.|Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					CATCTTCAGCGTTCTGGACAA	0.383													A	6908736	G	A	6908736	3	1	104	1	0	0	0	0	1	0	0	0	5104	1145	40	1	1113	1	EMR1	19	6908736	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	196350	6908736	52220247	5912	72526											
ZNF557	79230	broad.mit.edu	37	chr19	7081448	7081448	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgacagaagagagaggaattCtctcaggtacctgtccaggt	12	8	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:7081448C>A	uc002mgb.2	+	6	789	c.304C>A	c.(304-306)CTC>ATC	p.L102I	ZNF557_uc002mga.2_Missense_Mutation_p.L109I|ZNF557_uc002mgc.2_Missense_Mutation_p.L109I	NM_001044388	NP_001037853	Q8N988	ZN557_HUMAN	zinc finger protein 557 isoform b	102	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2				Lung(535;0.179)		GAGAGGAATTCTCTCAGGTAC	0.458													A	7081448	C	A	7081448	3	1	104	1	0	0	0	0	1	0	0	0	17985	913	32	5	339	5	ZNF557	19	7081448	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	172712	7081448	52047535	5913	72527											
PEX11G	92960	broad.mit.edu	37	chr19	7550752	7550752	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccatattgcttagtgTagacaaacatggccaggtca	10	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:7550752T>C	uc002mgk.1	-	2	230	c.221A>G	c.(220-222)TAC>TGC	p.Y74C	PEX11G_uc002mgl.1_Missense_Mutation_p.Y4C	NM_080662	NP_542393	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	74	Cytoplasmic (Potential).					integral to membrane|peroxisomal membrane					0						TTGCTTAGTGTAGACAAACAT	0.527													C	7550752	T	C	7550752	3	2	104	1	0	0	0	0	1	0	0	0	11739	1638	57	3	520	3	PEX11G	19	7550752	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	469304	7550752	51578231	5914	72528											
XAB2	56949	broad.mit.edu	37	chr19	7687232	7687232	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcaccttgaagctctcctcGaagtacttgtgctcctccag	7	15	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:7687232G>A	uc002mgx.2	-	12	1628	c.1602C>T	c.(1600-1602)TTC>TTT	p.F534F		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	534	HAT 11.				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						AGCTCTCCTCGAAGTACTTGT	0.547								Direct_reversal_of_damage|NER					A	7687232	G	A	7687232	2	1	104	1	0	0	0	0	0	0	0	1	17415	1049	37	1		1	XAB2	19	7687232	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	136480	7687232	51441751	5915	72529											
XAB2	56949	broad.mit.edu	37	chr19	7689248	7689248	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagcgatcatgctctcctcGaactgggcgtagctgtcaaa	11	12	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:7689248G>A	uc002mgx.2	-	7	932	c.906C>T	c.(904-906)TTC>TTT	p.F302F		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	302	HAT 8.				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						TGCTCTCCTCGAACTGGGCGT	0.657								Direct_reversal_of_damage|NER					A	7689248	G	A	7689248	2	1	104	1	0	0	0	0	0	0	0	1	17415	1049	37	1		1	XAB2	19	7689248	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2016	7689248	51439735	5916	72530											
XAB2	56949	broad.mit.edu	37	chr19	7693137	7693137	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgaagccagcatttgacagaGaattggttccgcatgatttc	10	9	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:7693137G>T	uc002mgx.2	-	2	125	c.99C>A	c.(97-99)TTC>TTA	p.F33L	uc010dvi.1_5'Flank	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	33	HAT 1.				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						ATTTGACAGAGAATTGGTTCC	0.577								Direct_reversal_of_damage|NER					T	7693137	G	T	7693137	3	4	104	1	0	0	0	0	1	0	0	0	17415	933	33	5	2540	5	XAB2	19	7693137	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3889	7693137	51435846	5917	72531											
CLEC4M	10332	broad.mit.edu	37	chr19	7831062	7831062	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaagcagcagcaaatctaTcaagaactgaccgatttgaa	7	10	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:7831062T>G	uc002mih.2	+	5	802	c.684T>G	c.(682-684)TAT>TAG	p.Y228*	CLEC4M_uc010xjv.1_Nonsense_Mutation_p.Y223*|CLEC4M_uc002mhy.2_Nonsense_Mutation_p.Y195*|CLEC4M_uc010xjw.1_Intron|CLEC4M_uc010dvt.2_Nonsense_Mutation_p.Y205*|CLEC4M_uc010dvs.2_Nonsense_Mutation_p.Y227*|CLEC4M_uc010xjx.1_Nonsense_Mutation_p.Y200*|CLEC4M_uc002mhz.2_Intron|CLEC4M_uc002mic.2_Nonsense_Mutation_p.Y223*|CLEC4M_uc002mia.2_Intron	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M isoform	251	Extracellular (Probable).|7.|7 X approximate tandem repeats.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			pancreas(1)	1						AGCAAATCTATCAAGAACTGA	0.478													G	7831062	T	G	7831062	4	3	104	1	0	0	0	0	0	1	0	0	3518	1442	50	5	788	5	CLEC4M	19	7831062	Nonsense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	137925	7831062	51297921	5918	72532											
TIMM44	10469	broad.mit.edu	37	chr19	7999114	7999114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagatcacttttactgacttCgtgaaggctctactgagaca	9	9	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:7999114C>T	uc002miz.2	-	5	405	c.403G>A	c.(403-405)GAA>AAA	p.E135K	TIMM44_uc002mja.2_5'UTR|TIMM44_uc010dvx.1_RNA	NM_006351	NP_006342	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44	135					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1						TTACTGACTTCGTGAAGGCTC	0.627													T	7999114	C	T	7999114	3	4	104	1	0	0	0	0	1	0	0	0	15909	893	31	1	991	1	TIMM44	19	7999114	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	168052	7999114	51129869	5919	72533											
FBN3	84467	broad.mit.edu	37	chr19	8161429	8161429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatggctacagacattcGggatctcccgacactcattc	7	15	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:8161429G>A	uc002mjf.2	-	43	5459	c.5438C>T	c.(5437-5439)CCG>CTG	p.P1813L		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1813	EGF-like 28.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						ACAGACATTCGGGATCTCCCG	0.577													A	8161429	G	A	8161429	3	1	104	1	0	0	0	0	1	0	0	0	5704	1116	39	1	3075	1	FBN3	19	8161429	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	162315	8161429	50967554	5920	72534											
FBN3	84467	broad.mit.edu	37	chr19	8196634	8196634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaccgccagcccccccagGcactggcagcggaaggagcc	12	19	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:8196634G>A	uc002mjf.2	-	14	1815	c.1794C>T	c.(1792-1794)TGC>TGT	p.C598C		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	598	EGF-like 7; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GCCCCCCCAGGCACTGGCAGC	0.682													A	8196634	G	A	8196634	2	1	104	1	0	0	0	0	0	0	0	1	5704	1195	42	2		2	FBN3	19	8196634	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	35205	8196634	50932349	5921	72535											
MYO1F	4542	broad.mit.edu	37	chr19	8612995	8612995	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagttgatgcaaaactgctcGaagccatttttctgcagaag	9	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:8612995G>A	uc002mkg.2	-	12	1308	c.1194C>T	c.(1192-1194)TTC>TTT	p.F398F	MYO1F_uc002mkh.2_Nonsense_Mutation_p.R400*	NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	398	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						AAAACTGCTCGAAGCCATTTT	0.542													A	8612995	G	A	8612995	2	1	104	1	0	0	0	0	0	0	0	1	10073	1049	37	1		1	MYO1F	19	8612995	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	416361	8612995	50515988	5922	72536											
OR2Z1	284383	broad.mit.edu	37	chr19	8841415	8841415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatgtgaatcagtcggtgGcctcagacttcattctggtg	14	8	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:8841415G>A	uc010xkg.1	+	1	25	c.25G>A	c.(25-27)GCC>ACC	p.A9T		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2						TCAGTCGGTGGCCTCAGACTT	0.478													A	8841415	G	A	8841415	3	1	104	1	0	0	0	0	1	0	0	0	11036	1203	42	2	27	2	OR2Z1	19	8841415	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	228420	8841415	50287568	5923	72537											
MUC16	94025	broad.mit.edu	37	chr19	9010990	9010990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggtgggggccacagaGctccgatgggtgaaacctgc	16	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9010990G>A	uc002mkp.2	-	37	39132	c.38928C>T	c.(38926-38928)AGC>AGT	p.S12976S	MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGGCCACAGAGCTCCGATGGG	0.522													A	9010990	G	A	9010990	2	1	104	1	0	0	0	0	0	0	0	1	9973	962	34	2		2	MUC16	19	9010990	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	169575	9010990	50117993	5924	72538											
MUC16	94025	broad.mit.edu	37	chr19	9014190	9014190	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgttgggcgcagaggTctgatgggtgaaacctgcgt	18	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9014190T>G	uc002mkp.2	-	32	38662	c.38458A>C	c.(38458-38460)ACC>CCC	p.T12820P	MUC16_uc010xki.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12822	Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGCGCAGAGGTCTGATGGGTG	0.532													G	9014190	T	G	9014190	3	3	104	1	0	0	0	0	1	0	0	0	9973	1667	58	5	5277	5	MUC16	19	9014190	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	3200	9014190	50114793	5925	72539											
MUC16	94025	broad.mit.edu	37	chr19	9024886	9024886	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctcttcaatgtcattggTcagtttgcttagctcccagt	8	11	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9024886T>C	uc002mkp.2	-	16	37180	c.36976A>G	c.(36976-36978)ACC>GCC	p.T12326A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12328	SEA 2.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ATGTCATTGGTCAGTTTGCTT	0.557													C	9024886	T	C	9024886	3	2	104	1	0	0	0	0	1	0	0	0	9973	1667	58	3	6823	3	MUC16	19	9024886	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	10696	9024886	50104097	5926	72540											
MUC16	94025	broad.mit.edu	37	chr19	9028387	9028387	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgccgtggctgagctatcCttctctggcctgggtaagaa	12	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9028387C>A	uc002mkp.2	-	11	36609	c.36405G>T	c.(36403-36405)AAG>AAT	p.K12135N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12137	SEA 1.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTGAGCTATCCTTCTCTGGCC	0.532													A	9028387	C	A	9028387	3	1	104	1	0	0	0	0	1	0	0	0	9973	680	24	5	7414	5	MUC16	19	9028387	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3501	9028387	50100596	5927	72541											
MUC16	94025	broad.mit.edu	37	chr19	9045784	9045784	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttttaggtggtgttggcatCtctgatggtatcaaggtcat	13	5	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9045784C>A	uc002mkp.2	-	5	36051	c.35847G>T	c.(35845-35847)GAG>GAT	p.E11949D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11951	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTGTTGGCATCTCTGATGGTA	0.468													A	9045784	C	A	9045784	3	1	104	1	0	0	0	0	1	0	0	0	9973	912	32	5	7996	5	MUC16	19	9045784	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	17397	9045784	50083199	5928	72542											
MUC16	94025	broad.mit.edu	37	chr19	9046149	9046149	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaactctgctggttccagTtacaagtagggtgaagagag	12	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9046149T>C	uc002mkp.2	-	5	35686	c.35482A>G	c.(35482-35484)ACT>GCT	p.T11828A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11830	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTGGTTCCAGTTACAAGTAGG	0.498													C	9046149	T	C	9046149	3	2	104	1	0	0	0	0	1	0	0	0	9973	1725	60	3	8361	3	MUC16	19	9046149	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	365	9046149	50082834	5929	72543											
MUC16	94025	broad.mit.edu	37	chr19	9049699	9049699	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcatctagttcactaggtgaGatatttgttggaatggctga	12	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9049699G>T	uc002mkp.2	-	5	32136	c.31932C>A	c.(31930-31932)ATC>ATA	p.I10644I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10646	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CACTAGGTGAGATATTTGTTG	0.473													T	9049699	G	T	9049699	2	4	104	1	0	0	0	0	0	0	0	1	9973	932	33	5		5	MUC16	19	9049699	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3550	9049699	50079284	5930	72544											
MUC16	94025	broad.mit.edu	37	chr19	9056340	9056340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtccttcagtagtgctgCtctctgtcccaagactggtg	11	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9056340C>T	uc002mkp.2	-	3	31310	c.31106G>A	c.(31105-31107)AGC>AAC	p.S10369N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10371	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGTAGTGCTGCTCTCTGTCCC	0.483													T	9056340	C	T	9056340	3	4	104	1	0	0	0	0	1	0	0	0	9973	797	28	2	12745	2	MUC16	19	9056340	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	6641	9056340	50072643	5931	72545											
MUC16	94025	broad.mit.edu	37	chr19	9056704	9056704	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agacatagtaaacctggattCtgggaaggaggttatcccag	12	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9056704C>T	uc002mkp.2	-	3	30946	c.30742G>A	c.(30742-30744)GAA>AAA	p.E10248K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10250	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AACCTGGATTCTGGGAAGGAG	0.458													T	9056704	C	T	9056704	3	4	104	1	0	0	0	0	1	0	0	0	9973	922	32	4	13109	4	MUC16	19	9056704	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	364	9056704	50072279	5932	72546											
MUC16	94025	broad.mit.edu	37	chr19	9058293	9058293	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagttgtttccacaaagcgaGggctcgtccatgacagactt	10	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9058293G>T	uc002mkp.2	-	3	29357	c.29153C>A	c.(29152-29154)CCT>CAT	p.P9718H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9720	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CACAAAGCGAGGGCTCGTCCA	0.478													T	9058293	G	T	9058293	3	4	104	1	0	0	0	0	1	0	0	0	9973	1000	35	5	14698	5	MUC16	19	9058293	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1589	9058293	50070690	5933	72547											
MUC16	94025	broad.mit.edu	37	chr19	9062990	9062990	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgacttctgtcctggagacTtcagcagtggcaccagtggg	14	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9062990T>G	uc002mkp.2	-	3	24660	c.24456A>C	c.(24454-24456)GAA>GAC	p.E8152D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8154	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCCTGGAGACTTCAGCAGTGG	0.542													G	9062990	T	G	9062990	3	3	104	1	0	0	0	0	1	0	0	0	9973	1606	56	5	19395	5	MUC16	19	9062990	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	4697	9062990	50065993	5934	72548											
MUC16	94025	broad.mit.edu	37	chr19	9067439	9067439	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcacttttctctgtggatacGatggggtcctgggaggtgct	15	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9067439G>A	uc002mkp.2	-	3	20211	c.20007C>T	c.(20005-20007)ATC>ATT	p.I6669I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6671	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTGTGGATACGATGGGGTCCT	0.512													A	9067439	G	A	9067439	2	1	104	1	0	0	0	0	0	0	0	1	9973	1048	37	1		1	MUC16	19	9067439	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4449	9067439	50061544	5935	72549											
MUC16	94025	broad.mit.edu	37	chr19	9068735	9068735	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgctcttgcaatgtggaAgttacaggagaaggtgaggt	15	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9068735A>C	uc002mkp.2	-	3	18915	c.18711T>G	c.(18709-18711)ACT>ACG	p.T6237T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6239	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GCAATGTGGAAGTTACAGGAG	0.483													C	9068735	A	C	9068735	2	2	104	1	0	0	0	0	0	0	0	1	9973	59	3	5		5	MUC16	19	9068735	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1296	9068735	50060248	5936	72550											
MUC16	94025	broad.mit.edu	37	chr19	9068878	9068878	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtttctgaatctacaaaatCctgagttctggctgatggag	10	7	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9068878C>A	uc002mkp.2	-	3	18772	c.18568G>T	c.(18568-18570)GAT>TAT	p.D6190Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6192	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCTACAAAATCCTGAGTTCTG	0.473													A	9068878	C	A	9068878	3	1	104	1	0	0	0	0	1	0	0	0	9973	855	30	5	25283	5	MUC16	19	9068878	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	143	9068878	50060105	5937	72551											
MUC16	94025	broad.mit.edu	37	chr19	9069874	9069874	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggttggtgatggccatttCtgtggatcctgttacaaaag	12	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9069874C>A	uc002mkp.2	-	3	17776	c.17572G>T	c.(17572-17574)GAA>TAA	p.E5858*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5860	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ATGGCCATTTCTGTGGATCCT	0.493													A	9069874	C	A	9069874	4	1	104	1	0	0	0	0	0	1	0	0	9973	922	32	5	26279	5	MUC16	19	9069874	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	996	9069874	50059109	5938	72552											
MUC16	94025	broad.mit.edu	37	chr19	9070332	9070332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcatggcttctgtgtgcGcagtgtctttgtaagtggtc	13	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9070332G>A	uc002mkp.2	-	3	17318	c.17114C>T	c.(17113-17115)GCG>GTG	p.A5705V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5707	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTCTGTGTGCGCAGTGTCTTT	0.502													A	9070332	G	A	9070332	3	1	104	1	0	0	0	0	1	0	0	0	9973	1087	38	1	26737	1	MUC16	19	9070332	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	458	9070332	50058651	5939	72553											
MUC16	94025	broad.mit.edu	37	chr19	9084370	9084370	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattttctccggaggcagtgTcagtgctgaccatggtgctg	14	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9084370T>C	uc002mkp.2	-	1	7649	c.7445A>G	c.(7444-7446)GAC>GGC	p.D2482G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2482	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGAGGCAGTGTCAGTGCTGAC	0.502											OREG0006611	type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	C	9084370	T	C	9084370	3	2	104	1	0	0	0	0	1	0	0	0	9973	1667	58	3	36414	3	MUC16	19	9084370	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	14038	9084370	50044613	5940	72554											
MUC16	94025	broad.mit.edu	37	chr19	9086216	9086216	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggctctagtgacaccagTattcaatgacctgtcagtgg	12	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9086216T>C	uc002mkp.2	-	1	5803	c.5599A>G	c.(5599-5601)ACT>GCT	p.T1867A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1867	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTGACACCAGTATTCAATGAC	0.502													C	9086216	T	C	9086216	3	2	104	1	0	0	0	0	1	0	0	0	9973	1638	57	3	38260	3	MUC16	19	9086216	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1846	9086216	50042767	5941	72555											
OR7G1	125962	broad.mit.edu	37	chr19	9226198	9226198	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcttggatgttcactaggAtctttgggactgtggttgtg	15	5	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9226198A>G	uc002mks.1	-	1	242	c.242T>C	c.(241-243)ATC>ACC	p.I81T		NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G,	81	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						GTTCACTAGGATCTTTGGGAC	0.463													G	9226198	A	G	9226198	3	3	104	1	0	0	0	0	1	0	0	0	11222	333	12	3	767	3	OR7G1	19	9226198	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	139982	9226198	49902785	5942	72556											
OR7G1	125962	broad.mit.edu	37	chr19	9226251	9226251	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcagtaaaggagagattaaaGagaaggaagtacatgggggt	15	2	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9226251G>T	uc002mks.1	-	1	189	c.189C>A	c.(187-189)CTC>CTA	p.L63L		NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G,	63	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						AGAGATTAAAGAGAAGGAAGT	0.483													T	9226251	G	T	9226251	2	4	104	1	0	0	0	0	0	0	0	1	11222	929	33	5		5	OR7G1	19	9226251	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	53	9226251	49902732	5943	72557											
OR7D2	162998	broad.mit.edu	37	chr19	9296766	9296766	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcctcacacaggtctatttCtccatgttttttcctattct	4	12	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9296766C>T	uc002mkz.1	+	1	497	c.309C>T	c.(307-309)TTC>TTT	p.F103F		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D,	103	Helical; Name=3; (Potential).				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|upper_aerodigestive_tract(1)	3						AGGTCTATTTCTCCATGTTTT	0.493													T	9296766	C	T	9296766	2	4	104	1	0	0	0	0	0	0	0	1	11219	912	32	4		4	OR7D2	19	9296766	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	70515	9296766	49832217	5944	72558											
OR7E24	26648	broad.mit.edu	37	chr19	9362082	9362082	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgactcagatgtctttTtttgtcctttttgcatgtat	7	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9362082T>G	uc002mlb.1	+	1	363	c.363T>G	c.(361-363)TTT>TTG	p.F121L		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E,	121	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AGATGTCTTTTTTTGTCCTTT	0.493													G	9362082	T	G	9362082	3	3	104	1	0	0	0	0	1	0	0	0	11221	1838	64	5	365	5	OR7E24	19	9362082	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	65316	9362082	49766901	5945	72559											
OR7E24	26648	broad.mit.edu	37	chr19	9362171	9362171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtcaccccctgcactaccGaatcatcatgaacccacgcc	5	19	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9362171G>A	uc002mlb.1	+	1	452	c.452G>A	c.(451-453)CGA>CAA	p.R151Q		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E,	151	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CTGCACTACCGAATCATCATG	0.438													A	9362171	G	A	9362171	3	1	104	1	0	0	0	0	1	0	0	0	11221	1058	37	1	454	1	OR7E24	19	9362171	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	89	9362171	49766812	5946	72560											
ZNF699	374879	broad.mit.edu	37	chr19	9406606	9406606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgtgagttcttaggtgttCggtgagggatgaggaacgac	17	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9406606C>T	uc002mlc.1	-	5	1474	c.1474G>A	c.(1474-1476)GAA>AAA	p.E492K		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	zinc finger protein 699	492	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTTAGGTGTTCGGTGAGGGAT	0.448													T	9406606	C	T	9406606	3	4	104	1	0	0	0	0	1	0	0	0	18098	893	31	1	458	1	ZNF699	19	9406606	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	44435	9406606	49722377	5947	72561											
ZNF699	374879	broad.mit.edu	37	chr19	9407394	9407394	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagaaaatggaaggccttcCcacattccttgcactgatag	8	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9407394C>A	uc002mlc.1	-	5	686	c.686G>T	c.(685-687)GGG>GTG	p.G229V		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	zinc finger protein 699	229	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAAGGCCTTCCCACATTCCTT	0.453													A	9407394	C	A	9407394	3	1	104	1	0	0	0	0	1	0	0	0	18098	623	22	5	1246	5	ZNF699	19	9407394	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	788	9407394	49721589	5948	72562											
ZNF559	84527	broad.mit.edu	37	chr19	9452436	9452436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaagccttgagtgaacaCtcatgccttaagactcacag	8	10	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9452436C>T	uc002mlg.2	+	7	956	c.309C>T	c.(307-309)CAC>CAT	p.H103H	ZNF559_uc002mlf.2_5'UTR|ZNF559_uc010dwl.1_5'UTR|ZNF559_uc010xkn.1_Silent_p.H95H|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Silent_p.H167H|ZNF559_uc010dwk.1_5'UTR|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN	zinc finger protein 559	103	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGAGTGAACACTCATGCCTTA	0.363													T	9452436	C	T	9452436	2	4	104	1	0	0	0	0	0	0	0	1	17987	564	20	4		4	ZNF559	19	9452436	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	45042	9452436	49676547	5949	72563											
ZNF560	147741	broad.mit.edu	37	chr19	9577259	9577259	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agggcttctctctagtgtgtTttcaaatgtgcaatacgagc	10	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9577259T>G	uc002mlp.1	-	10	2574	c.2364A>C	c.(2362-2364)AAA>AAC	p.K788N	ZNF560_uc010dwr.1_Missense_Mutation_p.K682N	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	788	C2H2-type 15.				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						TCTAGTGTGTTTTCAAATGTG	0.398													G	9577259	T	G	9577259	3	3	104	1	0	0	0	0	1	0	0	0	17988	1838	64	5	12	5	ZNF560	19	9577259	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	124823	9577259	49551724	5950	72564											
ZNF560	147741	broad.mit.edu	37	chr19	9577542	9577542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgaaagcacatggaatttCgaaaggaatttccacatgcg	9	8	0	1	rs148650284		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9577542C>T	uc002mlp.1	-	10	2291	c.2081G>A	c.(2080-2082)CGA>CAA	p.R694Q	ZNF560_uc010dwr.1_Missense_Mutation_p.R588Q	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	694					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						CATGGAATTTCGAAAGGAATT	0.378													T	9577542	C	T	9577542	3	4	104	1	0	0	0	0	1	0	0	0	17988	884	31	1	295	1	ZNF560	19	9577542	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	283	9577542	49551441	5951	72565											
ZNF560	147741	broad.mit.edu	37	chr19	9577768	9577768	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atctccagtgtgtcttcgtaAatgtttagtaagatctgagc	9	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9577768A>C	uc002mlp.1	-	10	2065	c.1855T>G	c.(1855-1857)TTA>GTA	p.L619V	ZNF560_uc010dwr.1_Missense_Mutation_p.L513V	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	619	C2H2-type 10.				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						TGTCTTCGTAAATGTTTAGTA	0.398													C	9577768	A	C	9577768	3	2	104	1	0	0	0	0	1	0	0	0	17988	11	1	5	521	5	ZNF560	19	9577768	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	226	9577768	49551215	5952	72566											
ZNF121	7675	broad.mit.edu	37	chr19	9676675	9676675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attgtaggctttcccacattCgttacatatatagggtttct	7	8	1	0	rs142394580	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9676675C>T	uc010xkp.1	-	4	1346	c.1114G>A	c.(1114-1116)GAA>AAA	p.E372K	ZNF121_uc010dwt.2_Missense_Mutation_p.E372K|ZNF121_uc010xkq.1_Missense_Mutation_p.E372K	NM_001008727	NP_001008727	P58317	ZN121_HUMAN	zinc finger protein 121	372	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTCCCACATTCGTTACATATA	0.338													T	9676675	C	T	9676675	3	4	104	1	0	0	0	0	1	0	0	0	17716	893	31	1	62	1	ZNF121	19	9676675	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	98907	9676675	49452308	5953	72567											
ZNF562	54811	broad.mit.edu	37	chr19	9764135	9764135	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcttagtcttttcggatttCtttccagtatgaactgctac	6	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9764135C>A	uc010xks.1	-	6	934	c.771G>T	c.(769-771)AAG>AAT	p.K257N	ZNF562_uc002mly.2_Missense_Mutation_p.K257N|ZNF562_uc002mlx.2_Missense_Mutation_p.K185N|ZNF562_uc010xkt.1_Missense_Mutation_p.K220N|ZNF562_uc010xku.1_Missense_Mutation_p.K188N|ZNF562_uc010xkv.1_Missense_Mutation_p.K256N|ZNF562_uc010xkw.1_Missense_Mutation_p.K141N	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN	zinc finger protein 562 isoform a	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTTCGGATTTCTTTCCAGTAT	0.388													A	9764135	C	A	9764135	3	1	104	1	0	0	0	0	1	0	0	0	17990	912	32	5	513	5	ZNF562	19	9764135	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	87460	9764135	49364848	5954	72568											
ZNF846	162993	broad.mit.edu	37	chr19	9868330	9868330	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttacatgcataaggcttttCtcctgtgtgcgttcgcatgt	9	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9868330C>A	uc002mmb.1	-	6	1954	c.1423G>T	c.(1423-1425)GAA>TAA	p.E475*	ZNF846_uc010xky.1_Intron|ZNF846_uc010xkz.1_Intron|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_Nonsense_Mutation_p.E346*	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TAAGGCTTTTCTCCTGTGTGC	0.428													A	9868330	C	A	9868330	4	1	104	1	0	0	0	0	0	1	0	0	18189	922	32	5	182	5	ZNF846	19	9868330	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	104195	9868330	49260653	5955	72569											
ZNF846	162993	broad.mit.edu	37	chr19	9869139	9869139	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgactgattaagaaaagttCtccaacagtctttgcattca	6	8	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:9869139C>A	uc002mmb.1	-	6	1145	c.614G>T	c.(613-615)AGA>ATA	p.R205I	ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Missense_Mutation_p.R76I|ZNF846_uc002mmc.1_Missense_Mutation_p.R76I	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	205	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AAGAAAAGTTCTCCAACAGTC	0.358													A	9869139	C	A	9869139	3	1	104	1	0	0	0	0	1	0	0	0	18189	913	32	5	991	5	ZNF846	19	9869139	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	809	9869139	49259844	5956	72570											
COL5A3	50509	broad.mit.edu	37	chr19	10071116	10071116	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagcagacggggcccagttCaaacccaaacttttggttcg	11	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:10071116C>A	uc002mmq.1	-	67	5295	c.5209G>T	c.(5209-5211)GAA>TAA	p.E1737*		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1737	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			GGGCCCAGTTCAAACCCAAAC	0.577													A	10071116	C	A	10071116	4	1	104	1	0	0	0	0	0	1	0	0	3698	835	29	5	32	5	COL5A3	19	10071116	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	201977	10071116	49057867	5957	72571											
RDH8	50700	broad.mit.edu	37	chr19	10127761	10127761	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accatgagggacctggggaaGaaggagacactggaggcagc	17	8	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:10127761G>T	uc002mmr.2	+	2	381	c.132G>T	c.(130-132)AAG>AAT	p.K44N		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	44					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(3)|pancreas(1)	4			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	ACCTGGGGAAGAAGGAGACAC	0.642													T	10127761	G	T	10127761	3	4	104	1	0	0	0	0	1	0	0	0	13196	933	33	5	138	5	RDH8	19	10127761	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	56645	10127761	49001222	5958	72572											
DNMT1	1786	broad.mit.edu	37	chr19	10259675	10259675	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtccccctccagcagggActcgggatccatgcctccct	10	18	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:10259675A>G	uc002mng.2	-	26	2737	c.2557T>C	c.(2557-2559)TCC>CCC	p.S853P	DNMT1_uc010xlc.1_Missense_Mutation_p.S869P|DNMT1_uc002mnh.2_Missense_Mutation_p.S748P|DNMT1_uc010xld.1_Missense_Mutation_p.S853P	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	853	BAH 1.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TCCAGCAGGGACTCGGGATCC	0.393													G	10259675	A	G	10259675	3	3	104	1	0	0	0	0	1	0	0	0	4675	275	10	3	2353	3	DNMT1	19	10259675	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	131914	10259675	48869308	5959	72573											
DNMT1	1786	broad.mit.edu	37	chr19	10267136	10267136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagagttcgatattcttctCgatgaggccggtgtcgatgg	14	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:10267136C>T	uc002mng.2	-	17	1462	c.1282G>A	c.(1282-1284)GAG>AAG	p.E428K	DNMT1_uc010xlc.1_Missense_Mutation_p.E444K|DNMT1_uc002mnh.2_Missense_Mutation_p.E323K|DNMT1_uc010xld.1_Missense_Mutation_p.E428K	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	428	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	ATATTCTTCTCGATGAGGCCG	0.483													T	10267136	C	T	10267136	3	4	104	1	0	0	0	0	1	0	0	0	4675	893	31	1	3664	1	DNMT1	19	10267136	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	7461	10267136	48861847	5960	72574											
PDE4A	5141	broad.mit.edu	37	chr19	10561292	10561292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcaggcggtccccgctgGgcggccccacccctgtctgc	13	19	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:10561292G>A	uc002moj.2	+	5	742	c.634G>A	c.(634-636)GGC>AGC	p.G212S	PDE4A_uc002mok.2_Missense_Mutation_p.G186S|PDE4A_uc002mol.2_Missense_Mutation_p.G151S|PDE4A_uc002mom.2_5'Flank|PDE4A_uc002mon.2_5'Flank	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	phosphodiesterase 4A isoform 1	212					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GTCCCCGCTGGGCGGCCCCAC	0.652													A	10561292	G	A	10561292	3	1	104	1	0	0	0	0	1	0	0	0	11639	1232	43	4	1039	4	PDE4A	19	10561292	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	294156	10561292	48567691	5961	72575											
KEAP1	9817	broad.mit.edu	37	chr19	10610561	10610561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagggtgtagctgaaggtgCggttgccatgctgggagggc	19	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:10610561C>T	uc002moq.1	-	2	305	c.149G>A	c.(148-150)CGC>CAC	p.R50H	KEAP1_uc002mor.1_Missense_Mutation_p.R50H	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCTGAAGGTGCGGTTGCCATG	0.632													T	10610561	C	T	10610561	3	4	104	1	0	0	0	0	1	0	0	0	8141	768	27	1	1745	1	KEAP1	19	10610561	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	49269	10610561	48518422	5962	72576											
DNM2	1785	broad.mit.edu	37	chr19	10886518	10886518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctcattctggctgtcacGcccgccaacatggacctggc	10	16	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:10886518G>A	uc002mps.1	+	4	689	c.525G>A	c.(523-525)ACG>ACA	p.T175T	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Silent_p.T175T|DNM2_uc002mpv.1_Silent_p.T175T|DNM2_uc002mpu.1_Silent_p.T175T|DNM2_uc010dxl.1_Silent_p.T175T	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	175					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TGGCTGTCACGCCCGCCAACA	0.607													A	10886518	G	A	10886518	2	1	104	1	0	0	0	0	0	0	0	1	4672	1074	38	1		1	DNM2	19	10886518	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	275957	10886518	48242465	5963	72577											
DNM2	1785	broad.mit.edu	37	chr19	10908128	10908128	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attgtaaaactcaaagagccGagtttgaagtgtgttgatct	10	5	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:10908128G>A	uc002mps.1	+	10	1433	c.1269G>A	c.(1267-1269)CCG>CCA	p.P423P	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Intron|DNM2_uc002mpv.1_Silent_p.P423P|DNM2_uc002mpu.1_Intron|DNM2_uc010dxl.1_Intron|DNM2_uc002mpw.2_Silent_p.P156P	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	423					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCAAAGAGCCGAGTTTGAAGT	0.507													A	10908128	G	A	10908128	2	1	104	1	0	0	0	0	0	0	0	1	4672	1045	37	1		1	DNM2	19	10908128	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	21610	10908128	48220855	5964	72578											
DOCK6	57572	broad.mit.edu	37	chr19	11352862	11352862	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggggattttcaggagccggaGaaatgtcgatcttgagctgg	16	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:11352862G>T	uc002mqs.3	-	14	1543	c.1502C>A	c.(1501-1503)TCT>TAT	p.S501Y		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	501					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						AGGAGCCGGAGAAATGTCGAT	0.612													T	11352862	G	T	11352862	3	4	104	1	0	0	0	0	1	0	0	0	4691	942	33	5	4781	5	DOCK6	19	11352862	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	444734	11352862	47776121	5965	72579											
RGL3	57139	broad.mit.edu	37	chr19	11516087	11516087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcaaggaggagaagttccGcagttctcggcagcgctgcc	15	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:11516087G>A	uc002mrp.2	-	8	1076	c.1012C>T	c.(1012-1014)CGG>TGG	p.R338W	RGL3_uc002mrn.2_Missense_Mutation_p.R102W|RGL3_uc002mrm.2_Missense_Mutation_p.R102W|RGL3_uc002mro.2_Missense_Mutation_p.R338W	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	338	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1						GAGAAGTTCCGCAGTTCTCGG	0.567													A	11516087	G	A	11516087	3	1	104	1	0	0	0	0	1	0	0	0	13278	1086	38	1	1186	1	RGL3	19	11516087	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	163225	11516087	47612896	5966	72580											
ZNF627	199692	broad.mit.edu	37	chr19	11728369	11728369	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgatttccccagttcatttCgaatccatgaaaggacccac	6	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:11728369C>T	uc002msk.2	+	4	1259	c.1051C>T	c.(1051-1053)CGA>TGA	p.R351*	ZNF627_uc010dyf.2_Nonsense_Mutation_p.R241*	NM_145295	NP_660338	Q7L945	ZN627_HUMAN	zinc finger protein 627	351	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						CAGTTCATTTCGAATCCATGA	0.413													T	11728369	C	T	11728369	4	4	104	1	0	0	0	0	0	1	0	0	18048	876	31	1	1065	1	ZNF627	19	11728369	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	212282	11728369	47400614	5967	72581											
ZNF627	199692	broad.mit.edu	37	chr19	11728453	11728453	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagttgttccagttcgtttCgaaaacatgaaagaattcac	7	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:11728453C>T	uc002msk.2	+	4	1343	c.1135C>T	c.(1135-1137)CGA>TGA	p.R379*	ZNF627_uc010dyf.2_Nonsense_Mutation_p.R269*	NM_145295	NP_660338	Q7L945	ZN627_HUMAN	zinc finger protein 627	379	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						CAGTTCGTTTCGAAAACATGA	0.418													T	11728453	C	T	11728453	4	4	104	1	0	0	0	0	0	1	0	0	18048	876	31	1	1149	1	ZNF627	19	11728453	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	84	11728453	47400530	5968	72582											
ZNF441	126068	broad.mit.edu	37	chr19	11891955	11891955	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttaccttcaaatacatgaaaGaattcacactggggagagac	8	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:11891955G>T	uc010dyj.2	+	4	1510	c.1316G>T	c.(1315-1317)AGA>ATA	p.R439I	ZNF441_uc002msn.3_Missense_Mutation_p.R395I	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	439	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATACATGAAAGAATTCACACT	0.378													T	11891955	G	T	11891955	3	4	104	1	0	0	0	0	1	0	0	0	17911	942	33	5	1330	5	ZNF441	19	11891955	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	163502	11891955	47237028	5969	72583											
ZNF441	126068	broad.mit.edu	37	chr19	11891986	11891986	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggagagaccctataaatgTaaacaatgcggaaaagcctt	11	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:11891986T>C	uc010dyj.2	+	4	1541	c.1347T>C	c.(1345-1347)TGT>TGC	p.C449C	ZNF441_uc002msn.3_Silent_p.C405C	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	449	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCTATAAATGTAAACAATGCG	0.383													C	11891986	T	C	11891986	2	2	104	1	0	0	0	0	0	0	0	1	17911	1644	57	3		3	ZNF441	19	11891986	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	31	11891986	47236997	5970	72584											
ZNF441	126068	broad.mit.edu	37	chr19	11892539	11892539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagttacttacgaatacacGaaagagttcatactggagag	9	7	1	2	rs77835227	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:11892539G>A	uc010dyj.2	+	4	2094	c.1900G>A	c.(1900-1902)GAA>AAA	p.E634K	ZNF441_uc002msn.3_Missense_Mutation_p.E590K	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	634	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ACGAATACACGAAAGAGTTCA	0.408													A	11892539	G	A	11892539	3	1	104	1	0	0	0	0	1	0	0	0	17911	1059	37	1	1914	1	ZNF441	19	11892539	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	553	11892539	47236444	5971	72585											
ZNF491	126069	broad.mit.edu	37	chr19	11916972	11916972	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caccaaccacataagtgtcaGaaatttttagagaagccata	6	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:11916972G>A	uc002mso.1	+	3	489	c.204G>A	c.(202-204)CAG>CAA	p.Q68Q		NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						ATAAGTGTCAGAAATTTTTAG	0.398													A	11916972	G	A	11916972	2	1	104	1	0	0	0	0	0	0	0	1	17939	933	33	4		4	ZNF491	19	11916972	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	24433	11916972	47212011	5972	72586											
ZNF491	126069	broad.mit.edu	37	chr19	11917544	11917544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctcgccttataagctttcGaagacacatgagaatgcaca	7	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:11917544G>A	uc002mso.1	+	3	1061	c.776G>A	c.(775-777)CGA>CAA	p.R259Q		NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	259	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						ATAAGCTTTCGAAGACACATG	0.408													A	11917544	G	A	11917544	3	1	104	1	0	0	0	0	1	0	0	0	17939	1058	37	1	778	1	ZNF491	19	11917544	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	572	11917544	47211439	5973	72587											
ZNF440	126070	broad.mit.edu	37	chr19	11942676	11942676	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acactggagagaaaccatgtGaatgtaaacagtgtggtaaa	11	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:11942676G>A	uc002msp.1	+	4	841	c.685G>A	c.(685-687)GAA>AAA	p.E229K		NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	229	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAAACCATGTGAATGTAAACA	0.373													A	11942676	G	A	11942676	3	1	104	1	0	0	0	0	1	0	0	0	17910	1291	45	4	699	4	ZNF440	19	11942676	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	25132	11942676	47186307	5974	72588											
ZNF439	90594	broad.mit.edu	37	chr19	11976850	11976850	+	Translation_Start_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaaataaaaaaaaaaaTtgctttatggaagaaagtaa	5	2	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:11976850T>A	uc002mss.2	+	1	7	c.-121T>A	c.(-123--119)AATTG>AAATG		ZNF439_uc002msr.2_Intron	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	zinc finger protein 439						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						aaaaaaaaaaTTGCTTTATGG	0.209													A	11976850	T	A	11976850	1	1	104	1	0	0	0	0	0	0	0	0	17908	1508	52	5		5	ZNF439	19	11976850	Translation_Start_Site	SNP	T	TCGA-BR-8680-01A-11D-2394-08	34174	11976850	47152133	5975	72589											
ZNF439	90594	broad.mit.edu	37	chr19	11978700	11978700	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaaagccttatgaatgTcaggaatgtgggaaagcatt	13	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:11978700T>C	uc002mss.2	+	3	944	c.816T>C	c.(814-816)TGT>TGC	p.C272C	ZNF439_uc002msr.2_Silent_p.C136C	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	272	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						CTTATGAATGTCAGGAATGTG	0.393													C	11978700	T	C	11978700	2	2	104	1	0	0	0	0	0	0	0	1	17908	1673	58	3		3	ZNF439	19	11978700	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1850	11978700	47150283	5976	72590											
ZNF700	90592	broad.mit.edu	37	chr19	12060493	12060493	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagatgttgcaattcccttCgatatcatgaaaggactcac	7	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:12060493C>T	uc002msu.2	+	4	1780	c.1654C>T	c.(1654-1656)CGA>TGA	p.R552*	ZNF700_uc010xme.1_Nonsense_Mutation_p.R570*|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	552	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CAATTCCCTTCGATATCATGA	0.433													T	12060493	C	T	12060493	4	4	104	1	0	0	0	0	0	1	0	0	18101	876	31	1	1668	1	ZNF700	19	12060493	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	81793	12060493	47068490	5977	72591											
ZNF433	163059	broad.mit.edu	37	chr19	12125892	12125892	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgaggcacatccaaaagacTtcccacactgcttacattca	6	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:12125892T>G	uc002msy.1	-	4	1961	c.1790A>C	c.(1789-1791)AAG>ACG	p.K597T	uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.K562T	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	597	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCCAAAAGACTTCCCACACTG	0.468													G	12125892	T	G	12125892	3	3	104	1	0	0	0	0	1	0	0	0	17904	1609	56	5	235	5	ZNF433	19	12125892	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	65399	12125892	47003091	5978	72592											
ZNF878	729747	broad.mit.edu	37	chr19	12155208	12155208	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttttacattcataaggtttCtctccagtgtgagtcttttc	6	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:12155208C>A	uc002mta.1	-	5	1149	c.1149G>T	c.(1147-1149)GAG>GAT	p.E383D		NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	zinc finger protein 878	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						CATAAGGTTTCTCTCCAGTGT	0.388													A	12155208	C	A	12155208	3	1	104	1	0	0	0	0	1	0	0	0	18193	912	32	5	591	5	ZNF878	19	12155208	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	29316	12155208	46973775	5979	72593											
ZNF878	729747	broad.mit.edu	37	chr19	12155980	12155980	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcaaaacttctccatgcTgatgactttctttactttca	5	10	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:12155980T>G	uc002mta.1	-	5	377	c.377A>C	c.(376-378)CAG>CCG	p.Q126P		NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	zinc finger protein 878	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						TTCTCCATGCTGATGACTTTC	0.383													G	12155980	T	G	12155980	3	3	104	1	0	0	0	0	1	0	0	0	18193	1580	55	5	1363	5	ZNF878	19	12155980	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	772	12155980	46973003	5980	72594											
ZNF20	7568	broad.mit.edu	37	chr19	12243483	12243483	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgccacattgcttgcattgAtagggtttctctccagtgtg	10	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:12243483A>C	uc002mtf.1	-	4	1661	c.1518T>G	c.(1516-1518)TAT>TAG	p.Y506*	ZNF20_uc002mte.1_Nonsense_Mutation_p.Y471*|ZNF20_uc002mtg.1_Nonsense_Mutation_p.Y506*	NM_021143	NP_066966	P17024	ZNF20_HUMAN	zinc finger protein 20	506	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCTTGCATTGATAGGGTTTCT	0.398													C	12243483	A	C	12243483	4	2	104	1	0	0	0	0	0	1	0	0	17758	340	12	5	84	5	ZNF20	19	12243483	Nonsense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	87503	12243483	46885500	5981	72595											
ZNF625	90589	broad.mit.edu	37	chr19	12256532	12256532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctttcatgtattcgaagGctaccagaatgactaaaggc	9	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:12256532G>A	uc002mth.2	-	4	851	c.501C>T	c.(499-501)AGC>AGT	p.S167S	ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Silent_p.S201S	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	zinc finger protein 625	167	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTATTCGAAGGCTACCAGAAT	0.413													A	12256532	G	A	12256532	2	1	104	1	0	0	0	0	0	0	0	1	18046	1194	42	2		2	ZNF625	19	12256532	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13049	12256532	46872451	5982	72596											
ZNF44	51710	broad.mit.edu	37	chr19	12384420	12384420	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctctccagtgtgagttCtttcatgcatacgtaataaa	7	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:12384420C>A	uc010xmj.1	-	5	999	c.794G>T	c.(793-795)AGA>ATA	p.R265I	ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.R217I	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	zinc finger protein 44 isoform 1	265	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		AGTGTGAGTTCTTTCATGCAT	0.393													A	12384420	C	A	12384420	3	1	104	1	0	0	0	0	1	0	0	0	17909	913	32	5	1201	5	ZNF44	19	12384420	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	127888	12384420	46744563	5983	72597											
ZNF799	90576	broad.mit.edu	37	chr19	12491521	12491521	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaagggaagtggaagcActgaaggctttcccacattg	12	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:12491521A>G	uc002mts.3	-	4	1021	c.555T>C	c.(553-555)AGT>AGC	p.S185S				Q96GE5	ZN799_HUMAN	Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****.	291	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						AAGTGGAAGCACTGAAGGCTT	0.433													G	12491521	A	G	12491521	2	3	104	1	0	0	0	0	0	0	0	1	18163	174	6	3		3	ZNF799	19	12491521	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	107101	12491521	46637462	5984	72598											
ZNF799	90576	broad.mit.edu	37	chr19	12491744	12491744	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctctccagagtgagttCtttcatgcatacgaaataaa	7	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:12491744C>A	uc002mts.3	-	4	798	c.332G>T	c.(331-333)AGA>ATA	p.R111I				Q96GE5	ZN799_HUMAN	Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****.	217	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						AGAGTGAGTTCTTTCATGCAT	0.393													A	12491744	C	A	12491744	3	1	104	1	0	0	0	0	1	0	0	0	18163	928	32	5		5	ZNF799	19	12491744	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	223	12491744	46637239	5985	72599											
ZNF799	90576	broad.mit.edu	37	chr19	12502322	12502322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgagttgtttcgtgtcttCgaagggaagtggaagcactg	15	5	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:12502322C>T	uc010dyt.2	-	4	1040	c.890G>A	c.(889-891)CGA>CAA	p.R297Q	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	297	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						TTCGTGTCTTCGAAGGGAAGT	0.423													T	12502322	C	T	12502322	3	4	104	1	0	0	0	0	1	0	0	0	18163	884	31	1	1045	1	ZNF799	19	12502322	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	10578	12502322	46626661	5986	72600											
ZNF709	163051	broad.mit.edu	37	chr19	12575681	12575681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgcattatcatatgtcttCgatagcttggaagagaaatg	10	5	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:12575681C>T	uc002mtv.3	-	4	1216	c.1055G>A	c.(1054-1056)CGA>CAA	p.R352Q	ZNF709_uc002mtw.3_Missense_Mutation_p.R320Q|ZNF709_uc002mtx.3_Missense_Mutation_p.R352Q	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	zinc finger protein 709 isoform a	352	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CATATGTCTTCGATAGCTTGG	0.368													T	12575681	C	T	12575681	3	4	104	1	0	0	0	0	1	0	0	0	18110	884	31	1	874	1	ZNF709	19	12575681	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	73359	12575681	46553302	5987	72601											
ZNF564	163050	broad.mit.edu	37	chr19	12637684	12637684	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctctccagtgtgagttCtttcgtgtatttgaaatgaa	9	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:12637684C>A	uc002mty.2	-	4	1448	c.1238G>T	c.(1237-1239)AGA>ATA	p.R413I	ZNF709_uc002mtx.3_Intron	NM_144976	NP_659413	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	413	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGTGTGAGTTCTTTCGTGTAT	0.408													A	12637684	C	A	12637684	3	1	104	1	0	0	0	0	1	0	0	0	17992	913	32	5	427	5	ZNF564	19	12637684	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	62003	12637684	46491299	5988	72602											
ZNF490	57474	broad.mit.edu	37	chr19	12691588	12691588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatgggttctttcatggattCgaaagtgagtggaataaaga	12	3	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:12691588C>T	uc002mtz.2	-	5	1430	c.1301G>A	c.(1300-1302)CGA>CAA	p.R434Q		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	434	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTCATGGATTCGAAAGTGAGT	0.413													T	12691588	C	T	12691588	3	4	104	1	0	0	0	0	1	0	0	0	17938	884	31	1	292	1	ZNF490	19	12691588	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	53904	12691588	46437395	5989	72603											
ZNF490	57474	broad.mit.edu	37	chr19	12692305	12692305	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcccacattctttgcatTtatgtggcttctctccatat	4	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:12692305T>G	uc002mtz.2	-	5	713	c.584A>C	c.(583-585)AAA>ACA	p.K195T		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	195	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTCTTTGCATTTATGTGGCTT	0.443													G	12692305	T	G	12692305	3	3	104	1	0	0	0	0	1	0	0	0	17938	1841	64	5	1009	5	ZNF490	19	12692305	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	717	12692305	46436678	5990	72604											
RAD23A	5886	broad.mit.edu	37	chr19	13060204	13060204	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctccagcagctgggccaggaGaaccctcagcttttacaggt	11	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:13060204G>T	uc002mvw.1	+	7	904	c.795G>T	c.(793-795)GAG>GAT	p.E265D	RAD23A_uc002mvx.1_Missense_Mutation_p.E264D|RAD23A_uc002mvz.1_Missense_Mutation_p.E264D|RAD23A_uc002mwa.1_Missense_Mutation_p.E265D|RAD23A_uc002mvy.1_Missense_Mutation_p.E99D|RAD23A_uc010xmw.1_Missense_Mutation_p.E100D	NM_005053	NP_005044	P54725	RD23A_HUMAN	UV excision repair protein RAD23 homolog A	265					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)	1						TGGGCCAGGAGAACCCTCAGC	0.612								NER					T	13060204	G	T	13060204	3	4	104	1	0	0	0	0	1	0	0	0	12982	933	33	5	821	5	RAD23A	19	13060204	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	367899	13060204	46068779	5991	72605											
TRMT1	55621	broad.mit.edu	37	chr19	13221113	13221113	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccaggctgtgcaggacgattCtcagggcctgggggtggggg	20	9	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:13221113C>A	uc002mwj.2	-	7	1128	c.878G>T	c.(877-879)AGA>ATA	p.R293I	TRMT1_uc010xmy.1_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.R293I|TRMT1_uc002mwl.3_Missense_Mutation_p.R293I|TRMT1_uc010xmz.1_Missense_Mutation_p.R79I	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	293							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CAGGACGATTCTCAGGGCCTG	0.552													A	13221113	C	A	13221113	3	1	104	1	0	0	0	0	1	0	0	0	16558	913	32	5	1141	5	TRMT1	19	13221113	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	160909	13221113	45907870	5992	72606											
CACNA1A	773	broad.mit.edu	37	chr19	13372361	13372361	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgaagatgaacatgaataGcatgtagacgatgaggatgt	14	4	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:13372361G>A	uc010dze.2	-	26	4392	c.4156C>T	c.(4156-4158)CTA>TTA	p.L1386L	CACNA1A_uc010xnd.1_Silent_p.L91L|CACNA1A_uc002mwx.3_Silent_p.L91L|CACNA1A_uc010dzc.2_Silent_p.L911L|CACNA1A_uc002mwy.3_Silent_p.L1385L|CACNA1A_uc010xne.1_Silent_p.L914L	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1386	III.|Helical; Name=S5 of repeat III; (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AACATGAATAGCATGTAGACG	0.493													A	13372361	G	A	13372361	2	1	104	1	0	0	0	0	0	0	0	1	2538	962	34	2		2	CACNA1A	19	13372361	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	151248	13372361	45756622	5993	72607											
CACNA1A	773	broad.mit.edu	37	chr19	13373570	13373570	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagctttggcagccgcttgAtggttttaagaggtcgtagc	14	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:13373570A>G	uc010dze.2	-	25	4306	c.4070T>C	c.(4069-4071)ATC>ACC	p.I1357T	CACNA1A_uc010xnd.1_Missense_Mutation_p.I62T|CACNA1A_uc002mwx.3_Missense_Mutation_p.I62T|CACNA1A_uc010dzc.2_Missense_Mutation_p.I882T|CACNA1A_uc002mwy.3_Missense_Mutation_p.I1356T|CACNA1A_uc010xne.1_Missense_Mutation_p.I885T	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1357	III.|Helical; Name=S4 of repeat III; (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CAGCCGCTTGATGGTTTTAAG	0.433											OREG0025294	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	13373570	A	G	13373570	3	3	104	1	0	0	0	0	1	0	0	0	2538	333	12	3	3647	3	CACNA1A	19	13373570	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1209	13373570	45755413	5994	72608											
CACNA1A	773	broad.mit.edu	37	chr19	13409910	13409910	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgctggccgaggcgctggTccacggtgggctcggccgcc	18	15	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:13409910T>C	uc010dze.2	-	19	2776	c.2540A>G	c.(2539-2541)GAC>GGC	p.D847G	CACNA1A_uc010dzc.2_Missense_Mutation_p.D372G|CACNA1A_uc002mwy.3_Missense_Mutation_p.D846G|CACNA1A_uc010xne.1_Missense_Mutation_p.D375G	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	847	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GAGGCGCTGGTCCACGGTGGG	0.701													C	13409910	T	C	13409910	3	2	104	1	0	0	0	0	1	0	0	0	2538	1667	58	3	5201	3	CACNA1A	19	13409910	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	36340	13409910	45719073	5995	72609											
CACNA1A	773	broad.mit.edu	37	chr19	13470614	13470614	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agactcaccctgaatgtcatCtacaaaagggaaggggagaa	11	8	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:13470614C>A	uc010dze.2	-	6	1021	c.785_splice	c.e6-1	p.D262_splice	CACNA1A_uc002mwy.3_Splice_Site_p.D262_splice	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3						cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGAATGTCATCTACAAAAGGG	0.537													A	13470614	C	A	13470614	5	1	104	1	0	0	0	0	0	0	1	0	2538	927	32	5	7018	5	CACNA1A	19	13470614	Splice_Site	SNP	C	TCGA-BR-8680-01A-11D-2394-08	60704	13470614	45658369	5996	72610											
ZSWIM4	65249	broad.mit.edu	37	chr19	13928150	13928150	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcgtctggaggaggagaCacttaccctttacccaggta	11	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:13928150C>A	uc002mxh.1	+	7	1490	c.1301C>A	c.(1300-1302)ACA>AAA	p.T434K	ZSWIM4_uc010xng.1_Missense_Mutation_p.T357K	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	434							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GAGGAGGAGACACTTACCCTT	0.632													A	13928150	C	A	13928150	3	1	104	1	0	0	0	0	1	0	0	0	18240	478	17	5	1327	5	ZSWIM4	19	13928150	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	457536	13928150	45200833	5997	72611											
LPHN1	22859	broad.mit.edu	37	chr19	14267940	14267940	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaatagtgcagcaggccggcGaagatggggcaggcaatctg	16	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:14267940G>A	uc010xnn.1	-	16	3074	c.2778C>T	c.(2776-2778)TTC>TTT	p.F926F	LPHN1_uc010xno.1_Silent_p.F921F|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	926	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						GCAGGCCGGCGAAGATGGGGC	0.647													A	14267940	G	A	14267940	2	1	104	1	0	0	0	0	0	0	0	1	8915	1049	37	1		1	LPHN1	19	14267940	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	339790	14267940	44861043	5998	72612											
EMR3	84658	broad.mit.edu	37	chr19	14765862	14765862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcagtttctagaactttcGattccacatcccggagaata	8	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:14765862G>A	uc002mzi.3	-	6	657	c.509C>T	c.(508-510)TCG>TTG	p.S170L	EMR3_uc010dzp.2_Missense_Mutation_p.S118L|EMR3_uc010xnv.1_Intron	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	egf-like module-containing mucin-like receptor	170	Extracellular (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(5)|skin(1)	6						TAGAACTTTCGATTCCACATC	0.413													A	14765862	G	A	14765862	3	1	104	1	0	0	0	0	1	0	0	0	5106	1059	37	1	1493	1	EMR3	19	14765862	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	497922	14765862	44363121	5999	72613											
ZNF333	84449	broad.mit.edu	37	chr19	14829800	14829800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaccctgaagagtcacatgcGaactcacactggagagaagc	10	11	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:14829800G>A	uc002mzn.2	+	12	1795	c.1661G>A	c.(1660-1662)CGA>CAA	p.R554Q	ZNF333_uc002mzk.3_Missense_Mutation_p.R445Q	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	zinc finger protein 333	554	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AGTCACATGCGAACTCACACT	0.537													A	14829800	G	A	14829800	3	1	104	1	0	0	0	0	1	0	0	0	17847	1058	37	1	1703	1	ZNF333	19	14829800	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	63938	14829800	44299183	6000	72614											
OR7A10	390892	broad.mit.edu	37	chr19	14951778	14951778	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttctattgctttcctctgaaGaatgttttcatagcaccctt	5	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:14951778G>T	uc002mzx.1	-	1	912	c.912C>A	c.(910-912)TTC>TTA	p.F304L		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A,	304	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)					TTCCTCTGAAGAATGTTTTCA	0.443													T	14951778	G	T	14951778	3	4	104	1	0	0	0	0	1	0	0	0	11214	933	33	5	21	5	OR7A10	19	14951778	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	121978	14951778	44177205	6001	72615											
SLC1A6	6511	broad.mit.edu	37	chr19	15063790	15063790	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtcttccgtgggcaagccGaccgacgtaagcacaatgac	11	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:15063790G>A	uc002naa.1	-	8	1457	c.1449C>T	c.(1447-1449)GTC>GTT	p.V483V	SLC1A6_uc010dzu.1_Silent_p.V405V|SLC1A6_uc010xod.1_Silent_p.V419V	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	483	Helical; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	TGGGCAAGCCGACCGACGTAA	0.572													A	15063790	G	A	15063790	2	1	104	1	0	0	0	0	0	0	0	1	14436	1045	37	1		1	SLC1A6	19	15063790	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	112012	15063790	44065193	6002	72616											
SLC1A6	6511	broad.mit.edu	37	chr19	15083562	15083562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaatgaaggcgtttcggCgcaggaagcgcagcacgtgc	16	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:15083562C>T	uc002naa.1	-	1	169	c.161G>A	c.(160-162)CGC>CAC	p.R54H	SLC1A6_uc010dzu.1_Missense_Mutation_p.R54H|SLC1A6_uc010xod.1_Silent_p.A58A|SLC1A6_uc002nab.2_Missense_Mutation_p.R54H|SLC1A6_uc002nac.2_Missense_Mutation_p.R54H|SLC1A6_uc002nad.1_Missense_Mutation_p.R54H	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	54	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	GGCGTTTCGGCGCAGGAAGCG	0.657													T	15083562	C	T	15083562	3	4	104	1	0	0	0	0	1	0	0	0	14436	768	27	1	1569	1	SLC1A6	19	15083562	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	19772	15083562	44045421	6003	72617											
CCDC105	126402	broad.mit.edu	37	chr19	15132651	15132651	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagttcacctggagaccgcaGaaaagctggacagacccctg	11	12	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:15132651G>T	uc002nae.2	+	6	1270	c.1171G>T	c.(1171-1173)GAA>TAA	p.E391*		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	391					microtubule cytoskeleton organization	microtubule				ovary(1)	1						GGAGACCGCAGAAAAGCTGGA	0.647													T	15132651	G	T	15132651	4	4	104	1	0	0	0	0	0	1	0	0	2740	943	33	5	1193	5	CCDC105	19	15132651	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	49089	15132651	43996332	6004	72618											
CASP14	23581	broad.mit.edu	37	chr19	15164409	15164409	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtttcggcagctgagattCgaaagcaccatgaaaagaga	11	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:15164409C>T	uc010dzv.1	+	3	452	c.144C>T	c.(142-144)TTC>TTT	p.F48F	CASP14_uc002naf.2_Silent_p.F48F	NM_012114	NP_036246	P31944	CASPE_HUMAN	caspase 14 precursor	48					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			skin(2)|ovary(1)|lung(1)	4						AGCTGAGATTCGAAAGCACCA	0.557													T	15164409	C	T	15164409	2	4	104	1	0	0	0	0	0	0	0	1	2670	883	31	1		1	CASP14	19	15164409	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	31758	15164409	43964574	6005	72619											
OR1I1	126370	broad.mit.edu	37	chr19	15198197	15198197	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtatgccttccacctgttCgggaccatggacagctttct	9	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:15198197C>T	uc010xoe.1	+	1	321	c.321C>T	c.(319-321)TTC>TTT	p.F107F		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I,	107	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3						TCCACCTGTTCGGGACCATGG	0.582													T	15198197	C	T	15198197	2	4	104	1	0	0	0	0	0	0	0	1	10958	883	31	1		1	OR1I1	19	15198197	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	33788	15198197	43930786	6006	72620											
ILVBL	10994	broad.mit.edu	37	chr19	15226687	15226687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgacgaatgtatcaaattCgatgaggctgtagccaaaag	10	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:15226687C>T	uc002nam.2	-	14	1709	c.1588G>A	c.(1588-1590)GAA>AAA	p.E530K	ILVBL_uc010xof.1_Missense_Mutation_p.E171K|ILVBL_uc010dzw.2_Missense_Mutation_p.E423K	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	530	Thiamine pyrophosphate binding (By similarity).					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			ovary(2)	2						GTATCAAATTCGATGAGGCTG	0.587													T	15226687	C	T	15226687	3	4	104	1	0	0	0	0	1	0	0	0	7715	893	31	1	322	1	ILVBL	19	15226687	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	28490	15226687	43902296	6007	72621											
AKAP8L	26993	broad.mit.edu	37	chr19	15510111	15510111	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggtggagggaagctggttAcctttccaccatgcggtctc	15	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:15510111A>G	uc002naw.1	-	9	1256	c.1157_splice	c.e9+1	p.R386_splice	AKAP8L_uc002nax.1_Splice_Site|AKAP8L_uc010xoh.1_Splice_Site_p.R325_splice	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like							cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			ovary(1)	1						GAAGCTGGTTACCTTTCCACC	0.627													G	15510111	A	G	15510111	5	3	104	1	0	0	0	0	0	0	1	0	458	405	14	3	805	3	AKAP8L	19	15510111	Splice_Site	SNP	A	TCGA-BR-8680-01A-11D-2394-08	283424	15510111	43618872	6008	72622											
CYP4F22	126410	broad.mit.edu	37	chr19	15658949	15658949	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actcagctgccctttacaacTatgtgcattaaggagagcct	8	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:15658949T>G	uc002nbh.3	+	11	1334	c.1167T>G	c.(1165-1167)ACT>ACG	p.T389T		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	389						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2						CCTTTACAACTATGTGCATTA	0.522													G	15658949	T	G	15658949	2	3	104	1	0	0	0	0	0	0	0	1	4189	1509	53	5		5	CYP4F22	19	15658949	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	148838	15658949	43470034	6009	72623											
CYP4F3	4051	broad.mit.edu	37	chr19	15758136	15758136	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtgaacatcatgcatgTgagttatttgaagccaaggt	12	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:15758136T>C	uc002nbj.2	+	5	575	c.525_splice	c.e5+2	p.H175_splice	CYP4F3_uc010xok.1_Splice_Site_p.H175_splice|CYP4F3_uc010xol.1_Splice_Site_p.H175_splice|CYP4F3_uc010xom.1_Splice_Site_p.H26_splice|CYP4F3_uc002nbk.2_Splice_Site_p.H175_splice|CYP4F3_uc010xon.1_5'Flank	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,						leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3						ATCATGCATGTGAGTTATTTG	0.383													C	15758136	T	C	15758136	5	2	104	1	0	0	0	0	0	0	1	0	4190	1710	59	3	541	3	CYP4F3	19	15758136	Splice_Site	SNP	T	TCGA-BR-8680-01A-11D-2394-08	99187	15758136	43370847	6010	72624											
OR10H2	26538	broad.mit.edu	37	chr19	15839024	15839024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgagcgcagcctccacacGcccatgtacctcttcctgtg	9	17	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:15839024G>A	uc002nbm.2	+	1	191	c.171G>A	c.(169-171)ACG>ACA	p.T57T		NM_013939	NP_039227	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H,	57	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCCTCCACACGCCCATGTACC	0.612													A	15839024	G	A	15839024	2	1	104	1	0	0	0	0	0	0	0	1	10906	1074	38	1		1	OR10H2	19	15839024	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	80888	15839024	43289959	6011	72625											
OR10H5	284433	broad.mit.edu	37	chr19	15905629	15905629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcactatggctttgcctcCgtcatttacctgaagcccaa	8	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:15905629C>T	uc010xos.1	+	1	771	c.771C>T	c.(769-771)TCC>TCT	p.S257S		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H,	257	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GCTTTGCCTCCGTCATTTACC	0.567													T	15905629	C	T	15905629	2	4	104	1	0	0	0	0	0	0	0	1	10909	639	23	1		1	OR10H5	19	15905629	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	66605	15905629	43223354	6012	72626											
CYP4F2	8529	broad.mit.edu	37	chr19	15990222	15990222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgttctctgggtcaaagCgaaaggggtcgtagacctgg	15	7	2	2	rs138971789		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:15990222C>T	uc002nbs.1	-	12	1381	c.1331G>A	c.(1330-1332)CGC>CAC	p.R444H	CYP4F2_uc010xot.1_Missense_Mutation_p.R295H	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	444					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2						TGGGTCAAAGCGAAAGGGGTC	0.577													T	15990222	C	T	15990222	3	4	104	1	0	0	0	0	1	0	0	0	4188	768	27	1	239	1	CYP4F2	19	15990222	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	84593	15990222	43138761	6013	72627											
CYP4F11	57834	broad.mit.edu	37	chr19	16045053	16045053	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccccaaaaccagttctgttTcgggggttgaggaaaacact	10	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:16045053T>C	uc002nbu.2	-	2	202	c.166A>G	c.(166-168)AAA>GAA	p.K56E	CYP4F11_uc010eab.1_Missense_Mutation_p.K56E|CYP4F11_uc002nbt.2_Missense_Mutation_p.K56E	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	56					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1						CAGTTCTGTTTCGGGGGTTGA	0.617													C	16045053	T	C	16045053	3	2	104	1	0	0	0	0	1	0	0	0	4186	1792	62	3	1456	3	CYP4F11	19	16045053	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	54831	16045053	43083930	6014	72628											
RAB8A	4218	broad.mit.edu	37	chr19	16240385	16240385	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catttttcactctcgccagaGatatcaaagcaaaaatggac	6	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:16240385G>T	uc002ndn.3	+	7	724	c.502G>T	c.(502-504)GAT>TAT	p.D168Y	RAB8A_uc010xpc.1_Missense_Mutation_p.R161I|RAB8A_uc002ndo.3_Missense_Mutation_p.R46I	NM_005370	NP_005361	P61006	RAB8A_HUMAN	mel transforming oncogene	168					cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding			skin(1)	1						TCTCGCCAGAGATATCAAAGC	0.527													T	16240385	G	T	16240385	3	4	104	1	0	0	0	0	1	0	0	0	12956	942	33	5	528	5	RAB8A	19	16240385	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	195332	16240385	42888598	6015	72629											
EPS15L1	58513	broad.mit.edu	37	chr19	16514555	16514555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaagtacctggttgatttCgtcttgcgttgacttcaggg	13	7	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:16514555C>T	uc002ndz.1	-	15	1621	c.1615G>A	c.(1615-1617)GAA>AAA	p.E539K	EPS15L1_uc002ndx.2_Missense_Mutation_p.E539K|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Missense_Mutation_p.E429K|EPS15L1_uc010xpf.1_Missense_Mutation_p.E442K|EPS15L1_uc002nea.1_Missense_Mutation_p.E539K|EPS15L1_uc010eah.1_Missense_Mutation_p.E539K|EPS15L1_uc002neb.1_Missense_Mutation_p.E385K|EPS15L1_uc002nec.1_Missense_Mutation_p.E539K	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway	539					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)|skin(2)	5						TGGTTGATTTCGTCTTGCGTT	0.582													T	16514555	C	T	16514555	3	4	104	1	0	0	0	0	1	0	0	0	5193	893	31	1	1015	1	EPS15L1	19	16514555	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	274170	16514555	42614428	6016	72630											
CALR3	125972	broad.mit.edu	37	chr19	16594840	16594840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcgtactctatgctgccGgattcaattgactgaccatc	8	12	2	2	rs149108772		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:16594840G>A	uc002ned.2	-	5	642	c.579C>T	c.(577-579)TCC>TCT	p.S193S	MED26_uc002nee.2_Intron	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	calreticulin 3 precursor	193	4 X approximate repeats.|N-domain.|1-1.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding				0						CTATGCTGCCGGATTCAATTG	0.428													A	16594840	G	A	16594840	2	1	104	1	0	0	0	0	0	0	0	1	2593	1103	39	1		1	CALR3	19	16594840	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	80285	16594840	42534143	6017	72631											
CALR3	125972	broad.mit.edu	37	chr19	16601326	16601326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttccctttattgctgaaCggtttgaagcgtgcagagat	11	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:16601326C>T	uc002ned.2	-	3	312	c.249G>A	c.(247-249)CCG>CCA	p.P83P	MED26_uc002nee.2_Intron	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	calreticulin 3 precursor	83	N-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding				0						TATTGCTGAACGGTTTGAAGC	0.453													T	16601326	C	T	16601326	2	4	104	1	0	0	0	0	0	0	0	1	2593	523	19	1		1	CALR3	19	16601326	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	6486	16601326	42527657	6018	72632											
CPAMD8	27151	broad.mit.edu	37	chr19	17010303	17010303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctcatcaaagtagaagaGcactcggcgtccagccactt	8	13	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:17010303G>A	uc002nfb.2	-	37	5004	c.4972C>T	c.(4972-4974)CTC>TTC	p.L1658F	CPAMD8_uc010xpj.1_5'Flank|CPAMD8_uc002nfd.1_Missense_Mutation_p.L123F	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1611						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						AAGTAGAAGAGCACTCGGCGT	0.577													A	17010303	G	A	17010303	3	1	104	1	0	0	0	0	1	0	0	0	3795	971	34	2	850	2	CPAMD8	19	17010303	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	408977	17010303	42118680	6019	72633											
CPAMD8	27151	broad.mit.edu	37	chr19	17091335	17091335	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaaggtgtgttaaacgaatCggtttctccagggcaggggc	15	7	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:17091335C>T	uc002nfb.2	-	14	1730	c.1698G>A	c.(1696-1698)CCG>CCA	p.P566P		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	519						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TTAAACGAATCGGTTTCTCCA	0.592													T	17091335	C	T	17091335	2	4	104	1	0	0	0	0	0	0	0	1	3795	871	31	1		1	CPAMD8	19	17091335	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	81032	17091335	42037648	6020	72634											
CPAMD8	27151	broad.mit.edu	37	chr19	17091474	17091474	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agggacatgtggacttcacaGaaaaataggcttcttcccca	9	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:17091474G>T	uc002nfb.2	-	14	1591	c.1559C>A	c.(1558-1560)TCT>TAT	p.S520Y		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	473						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						GGACTTCACAGAAAAATAGGC	0.572													T	17091474	G	T	17091474	3	4	104	1	0	0	0	0	1	0	0	0	3795	942	33	5	4355	5	CPAMD8	19	17091474	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	139	17091474	42037509	6021	72635											
CPAMD8	27151	broad.mit.edu	37	chr19	17119328	17119328	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttaccgcagcagaacggCtttaagtgtctccactctat	7	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:17119328C>T	uc002nfb.2	-	7	719	c.687G>A	c.(685-687)AAG>AAA	p.K229K		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	182						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						AGCAGAACGGCTTTAAGTGTC	0.562													T	17119328	C	T	17119328	2	4	104	1	0	0	0	0	0	0	0	1	3795	796	28	2		2	CPAMD8	19	17119328	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	27854	17119328	42009655	6022	72636											
MYO9B	4650	broad.mit.edu	37	chr19	17298844	17298844	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcagggtacagcgccaagtAcacgttccaggtaggccaca	12	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:17298844A>G	uc010eak.2	+	19	2830	c.2678A>G	c.(2677-2679)TAC>TGC	p.Y893C	MYO9B_uc002nfi.2_Missense_Mutation_p.Y893C|MYO9B_uc002nfj.1_Missense_Mutation_p.Y893C	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	893	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						AGCGCCAAGTACACGTTCCAG	0.567													G	17298844	A	G	17298844	3	3	104	1	0	0	0	0	1	0	0	0	10085	391	14	3	2748	3	MYO9B	19	17298844	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	179516	17298844	41830139	6023	72637											
MYO9B	4650	broad.mit.edu	37	chr19	17308628	17308628	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacctccttctccacgagCgacgtctccaagctcctccc	6	21	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:17308628C>T	uc010eak.2	+	23	4226	c.4074C>T	c.(4072-4074)AGC>AGT	p.S1358S	MYO9B_uc002nfi.2_Silent_p.S1358S|MYO9B_uc002nfj.1_Silent_p.S1358S|MYO9B_uc002nfl.1_5'Flank	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	1358	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						TCTCCACGAGCGACGTCTCCA	0.388													T	17308628	C	T	17308628	2	4	104	1	0	0	0	0	0	0	0	1	10085	767	27	1		1	MYO9B	19	17308628	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	9784	17308628	41820355	6024	72638											
FAM129C	199786	broad.mit.edu	37	chr19	17641676	17641676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaggagccgaccggaagCcagttgctacgcagcaaagt	12	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:17641676C>T	uc010xpr.1	+	3	399	c.261C>T	c.(259-261)AGC>AGT	p.S87S	FAM129C_uc010xpq.1_Silent_p.S87S|FAM129C_uc010xps.1_Silent_p.S56S|FAM129C_uc010xpt.1_Intron	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	B-cell novel protein 1 isoform a	87											0						CGACCGGAAGCCAGTTGCTAC	0.632													T	17641676	C	T	17641676	2	4	104	1	0	0	0	0	0	0	0	1	5438	738	26	2		2	FAM129C	19	17641676	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	333048	17641676	41487307	6025	72639											
FAM129C	199786	broad.mit.edu	37	chr19	17651357	17651357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgactgtcccaccgcctgcGccagagcccctcaggcacgc	10	21	1	1	rs150439084		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:17651357G>A	uc010xpr.1	+	10	1367	c.1229G>A	c.(1228-1230)CGC>CAC	p.R410H	FAM129C_uc010xpq.1_Missense_Mutation_p.R410H|FAM129C_uc002ngy.3_Missense_Mutation_p.R136H|FAM129C_uc010xpu.1_Missense_Mutation_p.R136H|FAM129C_uc002ngz.3_RNA|FAM129C_uc010eaw.2_Missense_Mutation_p.R136H|FAM129C_uc002nhb.2_Missense_Mutation_p.R9H	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	B-cell novel protein 1 isoform a	410											0						CACCGCCTGCGCCAGAGCCCC	0.672													A	17651357	G	A	17651357	3	1	104	1	0	0	0	0	1	0	0	0	5438	1087	38	1	1267	1	FAM129C	19	17651357	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	9681	17651357	41477626	6026	72640											
FAM129C	199786	broad.mit.edu	37	chr19	17654405	17654405	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctctgcatctttttacctTttgtgctgagccaactcgag	8	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:17654405T>G	uc010xpr.1	+	13	1750	c.1612T>G	c.(1612-1614)TTT>GTT	p.F538V	FAM129C_uc010xpq.1_Missense_Mutation_p.F538V|FAM129C_uc002ngy.3_Missense_Mutation_p.F264V|FAM129C_uc010xpu.1_Missense_Mutation_p.F264V|FAM129C_uc002ngz.3_RNA|FAM129C_uc010eaw.2_Intron|FAM129C_uc002nhb.2_Missense_Mutation_p.F167V	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	B-cell novel protein 1 isoform a	538											0						CTTTTTACCTTTTGTGCTGAG	0.532													G	17654405	T	G	17654405	3	3	104	1	0	0	0	0	1	0	0	0	5438	1841	64	5	1662	5	FAM129C	19	17654405	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	3048	17654405	41474578	6027	72641											
UNC13A	23025	broad.mit.edu	37	chr19	17758153	17758153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttcatctgctgcgtgtgCgccgtcttggtcaccgcgaa	12	14	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:17758153C>T	uc002nhd.2	-	17	2229	c.2229G>A	c.(2227-2229)GCG>GCA	p.A743A		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	655				A -> T (in Ref. 3).	exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						GCTGCGTGTGCGCCGTCTTGG	0.617													T	17758153	C	T	17758153	2	4	104	1	0	0	0	0	0	0	0	1	16981	755	27	1		1	UNC13A	19	17758153	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	103748	17758153	41370830	6028	72642											
JAK3	3718	broad.mit.edu	37	chr19	17951088	17951088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagtcctgggggctgcggCggagaacataggagccagga	17	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:17951088C>T	uc002nhn.3	-	9	1305	c.1205G>A	c.(1204-1206)CGC>CAC	p.R402H	JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.R402H|JAK3_uc010xpx.1_Missense_Mutation_p.R402H	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	402	SH2; atypical.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						GGGGCTGCGGCGGAGAACATA	0.483		2	Mis		acute megakaryocytic leukemia|								T	17951088	C	T	17951088	3	4	104	1	0	0	0	0	1	0	0	0	7939	768	27	1	2233	1	JAK3	19	17951088	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	192935	17951088	41177895	6029	72643											
JAK3	3718	broad.mit.edu	37	chr19	17955206	17955206	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgctgagggatcaggggcgtCtcttcacttggaggtgccat	15	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:17955206C>A	uc002nhn.3	-	2	121	c.21G>T	c.(19-21)GAG>GAT	p.E7D	JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.E7D|JAK3_uc010xpx.1_Missense_Mutation_p.E7D|JAK3_uc010xpy.1_Missense_Mutation_p.E7D	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	7	Interaction with cytokine/interferon/growth hormone receptors (By similarity).				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						TCAGGGGCGTCTCTTCACTTG	0.652		2	Mis		acute megakaryocytic leukemia|								A	17955206	C	A	17955206	3	1	104	1	0	0	0	0	1	0	0	0	7939	912	32	5	3445	5	JAK3	19	17955206	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4118	17955206	41173777	6030	72644											
SLC5A5	6528	broad.mit.edu	37	chr19	17983487	17983487	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccagcacctacgaggTaccggacagaggcccggggg	14	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:17983487T>C	uc002nhr.3	+	1	704	c.357_splice	c.e1+2	p.E119_splice		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium iodide						cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4						ACCTACGAGGTACCGGACAGA	0.677													C	17983487	T	C	17983487	5	2	104	1	0	0	0	0	0	0	1	0	14668	1652	57	3	361	3	SLC5A5	19	17983487	Splice_Site	SNP	T	TCGA-BR-8680-01A-11D-2394-08	28281	17983487	41145496	6031	72645											
MAST3	23031	broad.mit.edu	37	chr19	18239715	18239715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtcacggaggaagccatgcGaaagcgactttgagaccatc	12	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:18239715G>A	uc002nhz.3	+	12	1090	c.1090G>A	c.(1090-1092)GAA>AAA	p.E364K		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	364							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						GAAGCCATGCGAAAGCGACTT	0.592													A	18239715	G	A	18239715	3	1	104	1	0	0	0	0	1	0	0	0	9326	1059	37	1	1136	1	MAST3	19	18239715	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	256228	18239715	40889268	6032	72646											
MAST3	23031	broad.mit.edu	37	chr19	18248128	18248128	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccgacacaaagccgagttCgtgccccagctcgaagctga	10	15	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:18248128C>T	uc002nhz.3	+	18	1965	c.1965C>T	c.(1963-1965)TTC>TTT	p.F655F		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	655	AGC-kinase C-terminal.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						AAGCCGAGTTCGTGCCCCAGC	0.627													T	18248128	C	T	18248128	2	4	104	1	0	0	0	0	0	0	0	1	9326	883	31	1		1	MAST3	19	18248128	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	8413	18248128	40880855	6033	72647											
PIK3R2	5296	broad.mit.edu	37	chr19	18277075	18277075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaaggaatacctggagCgcttccggcgtgagggcaac	15	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:18277075C>T	uc002nia.1	+	12	2034	c.1522C>T	c.(1522-1524)CGC>TGC	p.R508C	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	508					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						ATACCTGGAGCGCTTCCGGCG	0.507													T	18277075	C	T	18277075	3	4	104	1	0	0	0	0	1	0	0	0	11919	768	27	1	1564	1	PIK3R2	19	18277075	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	28947	18277075	40851908	6034	72648											
SFRS14	10147	broad.mit.edu	37	chr19	19120788	19120788	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggtccaactgggtctggCgggcagtccttggcagcatc	15	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:19120788C>T	uc002nkx.2	-	5	2360	c.2214G>A	c.(2212-2214)CCG>CCA	p.P738P	SFRS14_uc002nkz.1_Silent_p.P752P|SFRS14_uc002nla.1_Silent_p.P738P|SFRS14_uc002nlb.2_Silent_p.P738P|SFRS14_uc010xqk.1_Silent_p.P507P	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	738	Pro/Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)			CTGGGTCTGGCGGGCAGTCCT	0.612													T	19120788	C	T	19120788	2	4	104	1	0	0	0	0	0	0	0	1	14170	755	27	1		1	SFRS14	19	19120788	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	843713	19120788	40008195	6035	72649											
NCAN	1463	broad.mit.edu	37	chr19	19360650	19360650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcaccaccacaaatcccGcaaggagcgcagaaaacaca	7	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:19360650G>A	uc002nlz.2	+	15	3995	c.3896G>A	c.(3895-3897)CGC>CAC	p.R1299H	NCAN_uc002nma.2_Missense_Mutation_p.A55T	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	1299					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			cacAAATCCCGCAAGGAGCGC	0.413													A	19360650	G	A	19360650	3	1	104	1	0	0	0	0	1	0	0	0	10204	1087	38	1	3950	1	NCAN	19	19360650	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	239862	19360650	39768333	6036	72650											
ZNF101	94039	broad.mit.edu	37	chr19	19790703	19790703	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcccttcacagacatgaaaGaactcatagtggaggaaaac	8	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:19790703G>T	uc002nni.1	+	4	1015	c.905G>T	c.(904-906)AGA>ATA	p.R302I	ZNF101_uc010ecg.1_Missense_Mutation_p.R182I|ZNF101_uc002nnj.1_Missense_Mutation_p.R182I	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	zinc finger protein 101	302	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						AGACATGAAAGAACTCATAGT	0.448													T	19790703	G	T	19790703	3	4	104	1	0	0	0	0	1	0	0	0	17711	942	33	5	919	5	ZNF101	19	19790703	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	430053	19790703	39338280	6037	72651											
ZNF506	440515	broad.mit.edu	37	chr19	19905446	19905446	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttctgtctaatatgaattTtcttatgtttattaagggct	7	4	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:19905446T>G	uc010eci.2	-	4	1398	c.1250A>C	c.(1249-1251)AAA>ACA	p.K417T	ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Missense_Mutation_p.K385T	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	zinc finger protein 506 isoform 1	417	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding				0						AATATGAATTTTCTTATGTTT	0.338													G	19905446	T	G	19905446	3	3	104	1	0	0	0	0	1	0	0	0	17949	1841	64	5	88	5	ZNF506	19	19905446	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	114743	19905446	39223537	6038	72652											
ZNF253	56242	broad.mit.edu	37	chr19	20003051	20003051	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taaccttactatacataagaGaattcatacaggagagaaac	6	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:20003051G>T	uc002noj.2	+	4	1087	c.995G>T	c.(994-996)AGA>ATA	p.R332I	ZNF253_uc002nok.2_Missense_Mutation_p.R256I|ZNF253_uc002nol.2_RNA	NM_021047	NP_066385	O75346	ZN253_HUMAN	zinc finger protein 253	332	C2H2-type 6.			Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATACATAAGAGAATTCATACA	0.388													T	20003051	G	T	20003051	3	4	104	1	0	0	0	0	1	0	0	0	17794	942	33	5	1009	5	ZNF253	19	20003051	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	97605	20003051	39125932	6039	72653											
ZNF486	90649	broad.mit.edu	37	chr19	20308761	20308761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaagaatgtggcaaagcGtatactacatcctcaaatct	8	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:20308761G>A	uc002nou.2	+	4	1299	c.1242G>A	c.(1240-1242)GCG>GCA	p.A414A		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	zinc finger protein 486	414	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GTGGCAAAGCGTATACTACAT	0.403													A	20308761	G	A	20308761	2	1	104	1	0	0	0	0	0	0	0	1	17936	1132	40	1		1	ZNF486	19	20308761	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	305710	20308761	38820222	6040	72654											
ZNF626	199777	broad.mit.edu	37	chr19	20808104	20808104	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtttccctccagtatgaatTttcttatgtgtagtaagagt	9	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:20808104T>C	uc002npb.1	-	4	729	c.579A>G	c.(577-579)AAA>AAG	p.K193K	ZNF626_uc002npc.1_Silent_p.K117K	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	193	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						CAGTATGAATTTTCTTATGTG	0.368													C	20808104	T	C	20808104	2	2	104	1	0	0	0	0	0	0	0	1	18047	1838	64	3		3	ZNF626	19	20808104	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	499343	20808104	38320879	6041	72655											
ZNF85	7639	broad.mit.edu	37	chr19	21116931	21116931	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tatagaaatgtgatgttagaGaactacagaaacctggtctt	9	5	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:21116931G>T	uc002npg.3	+	2	232	c.105G>T	c.(103-105)GAG>GAT	p.E35D	ZNF85_uc002npf.2_RNA|ZNF85_uc002nph.1_RNA|ZNF85_uc010ecn.2_Missense_Mutation_p.E3D|ZNF85_uc010eco.2_5'Flank|ZNF85_uc002npi.2_5'Flank	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	35	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1						TGATGTTAGAGAACTACAGAA	0.383													T	21116931	G	T	21116931	3	4	104	1	0	0	0	0	1	0	0	0	18190	933	33	5	111	5	ZNF85	19	21116931	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	308827	21116931	38012052	6042	72656											
ZNF85	7639	broad.mit.edu	37	chr19	21132056	21132056	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaccagtcctcaaaccttAttaaacataagaaaattcat	2	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:21132056A>G	uc002npg.3	+	4	863	c.736A>G	c.(736-738)ATT>GTT	p.I246V	ZNF85_uc010ecn.2_Missense_Mutation_p.I181V|ZNF85_uc010eco.2_Missense_Mutation_p.I194V|ZNF85_uc002npi.2_Missense_Mutation_p.I187V	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	246	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1						CTCAAACCTTATTAAACATAA	0.358													G	21132056	A	G	21132056	3	3	104	1	0	0	0	0	1	0	0	0	18190	449	16	3	750	3	ZNF85	19	21132056	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	15125	21132056	37996927	6043	72657											
ZNF100	163227	broad.mit.edu	37	chr19	21910150	21910150	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggttaaaagctttgccacAttctgtacatttgtagggtt	9	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:21910150A>G	uc002nqi.2	-	5	1163	c.964T>C	c.(964-966)TGT>CGT	p.C322R	ZNF100_uc002nqh.2_Missense_Mutation_p.C258R	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	322	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCTTTGCCACATTCTGTACAT	0.393													G	21910150	A	G	21910150	3	3	104	1	0	0	0	0	1	0	0	0	17710	217	8	3	668	3	ZNF100	19	21910150	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	778094	21910150	37218833	6044	72658											
ZNF43	7594	broad.mit.edu	37	chr19	21992154	21992154	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acattcttcacatgtgtaggGtttctctccagtattaattc	6	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:21992154G>T	uc002nqj.2	-	4	815	c.685C>A	c.(685-687)CCC>ACC	p.P229T	ZNF43_uc010ecv.2_Missense_Mutation_p.P223T|ZNF43_uc002nql.2_Missense_Mutation_p.P223T|ZNF43_uc002nqm.2_Missense_Mutation_p.P223T|ZNF43_uc002nqk.2_Missense_Mutation_p.P159T	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CATGTGTAGGGTTTCTCTCCA	0.338													T	21992154	G	T	21992154	3	4	104	1	0	0	0	0	1	0	0	0	17900	1261	44	5	1748	5	ZNF43	19	21992154	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	82004	21992154	37136829	6045	72659											
ZNF208	7757	broad.mit.edu	37	chr19	22155034	22155034	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcatgagttttcttatgTttactaaagactgacaacca	6	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:22155034T>C	uc002nqp.2	-	5	2651	c.2502A>G	c.(2500-2502)AAA>AAG	p.K834K	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTTCTTATGTTTACTAAAGA	0.373													C	22155034	T	C	22155034	2	2	104	1	0	0	0	0	0	0	0	1	17763	1722	60	3		3	ZNF208	19	22155034	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	162880	22155034	36973949	6046	72660											
ZNF208	7757	broad.mit.edu	37	chr19	22155446	22155446	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctcatcagtatgaattCtcttatgtttaataaggatt	6	5	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:22155446C>A	uc002nqp.2	-	5	2239	c.2090G>T	c.(2089-2091)AGA>ATA	p.R697I	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGTATGAATTCTCTTATGTTT	0.353													A	22155446	C	A	22155446	3	1	104	1	0	0	0	0	1	0	0	0	17763	913	32	5	1456	5	ZNF208	19	22155446	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	412	22155446	36973537	6047	72661											
ZNF208	7757	broad.mit.edu	37	chr19	22155637	22155637	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttatgtttagtaaggactgaGaatgtactaaagcttttgcc	9	5	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:22155637G>T	uc002nqp.2	-	5	2048	c.1899C>A	c.(1897-1899)TTC>TTA	p.F633L	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGGACTGAGAATGTACTAA	0.383													T	22155637	G	T	22155637	3	4	104	1	0	0	0	0	1	0	0	0	17763	933	33	5	1647	5	ZNF208	19	22155637	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	191	22155637	36973346	6048	72662											
ZNF208	7757	broad.mit.edu	37	chr19	22155698	22155698	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctctccagtatgaattCtcttatgttccataaggttt	6	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:22155698C>A	uc002nqp.2	-	5	1987	c.1838G>T	c.(1837-1839)AGA>ATA	p.R613I	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGTATGAATTCTCTTATGTTC	0.368													A	22155698	C	A	22155698	3	1	104	1	0	0	0	0	1	0	0	0	17763	913	32	5	1708	5	ZNF208	19	22155698	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	61	22155698	36973285	6049	72663											
ZNF208	7757	broad.mit.edu	37	chr19	22156833	22156833	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtagggcttctctccagcatGaattgccttatgtgtaataa	9	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:22156833G>T	uc002nqp.2	-	4	1152	c.1003C>A	c.(1003-1005)CAT>AAT	p.H335N	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGCATGAATTGCCTTA	0.393													T	22156833	G	T	22156833	3	4	104	1	0	0	0	0	1	0	0	0	17763	1290	45	5	2843	5	ZNF208	19	22156833	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1135	22156833	36972150	6050	72664											
ZNF257	113835	broad.mit.edu	37	chr19	22270960	22270960	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tataatggacttaaccaatgTctgataactacccagagcaa	6	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:22270960T>C	uc010ecx.2	+	4	577	c.408T>C	c.(406-408)TGT>TGC	p.C136C	ZNF257_uc010ecy.2_Silent_p.C104C	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTAACCAATGTCTGATAACTA	0.313													C	22270960	T	C	22270960	2	2	104	1	0	0	0	0	0	0	0	1	17797	1673	58	3		3	ZNF257	19	22270960	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	114127	22270960	36858023	6051	72665											
ZNF257	113835	broad.mit.edu	37	chr19	22271240	22271240	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atactggagagaaaccctacAaatgtgaagagtgtggaaaa	11	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:22271240A>C	uc010ecx.2	+	4	857	c.688A>C	c.(688-690)AAA>CAA	p.K230Q	ZNF257_uc010ecy.2_Missense_Mutation_p.K198Q	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	230	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAAACCCTACAAATGTGAAGA	0.408													C	22271240	A	C	22271240	3	2	104	1	0	0	0	0	1	0	0	0	17797	131	5	5	702	5	ZNF257	19	22271240	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	280	22271240	36857743	6052	72666											
ZNF257	113835	broad.mit.edu	37	chr19	22271522	22271522	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgaagagtgtggcaaaGcctttaaccagtcctcagcc	10	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:22271522G>T	uc010ecx.2	+	4	1139	c.970G>T	c.(970-972)GCC>TCC	p.A324S	ZNF257_uc010ecy.2_Missense_Mutation_p.A292S	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	324	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTGTGGCAAAGCCTTTAACCA	0.433													T	22271522	G	T	22271522	3	4	104	1	0	0	0	0	1	0	0	0	17797	971	34	5	984	5	ZNF257	19	22271522	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	282	22271522	36857461	6053	72667											
ZNF676	163223	broad.mit.edu	37	chr19	22363281	22363281	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctctccagtatgaattCtcttatgttccatgagcttt	6	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:22363281C>A	uc002nqs.1	-	3	1556	c.1238G>T	c.(1237-1239)AGA>ATA	p.R413I		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	413	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGTATGAATTCTCTTATGTTC	0.428													A	22363281	C	A	22363281	3	1	104	1	0	0	0	0	1	0	0	0	18080	913	32	5	532	5	ZNF676	19	22363281	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	91759	22363281	36765702	6054	72668											
ZNF676	163223	broad.mit.edu	37	chr19	22364161	22364161	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaacatttatgaaagacgtTtgcatatttgccacattgaa	7	6	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:22364161T>G	uc002nqs.1	-	3	676	c.358A>C	c.(358-360)AAC>CAC	p.N120H		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TGAAAGACGTTTGCATATTTG	0.333													G	22364161	T	G	22364161	3	3	104	1	0	0	0	0	1	0	0	0	18080	1841	64	5	1412	5	ZNF676	19	22364161	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	880	22364161	36764822	6055	72669											
ZNF98	148198	broad.mit.edu	37	chr19	22575671	22575671	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcttttacagtattttctTaactgtaaattttcacgtcc	4	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:22575671T>G	uc002nqt.2	-	4	488	c.366A>C	c.(364-366)TTA>TTC	p.L122F		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AGTATTTTCTTAACTGTAAAT	0.333													G	22575671	T	G	22575671	3	3	104	1	0	0	0	0	1	0	0	0	18200	1751	61	5	1356	5	ZNF98	19	22575671	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	211510	22575671	36553312	6056	72670											
ZNF98	148198	broad.mit.edu	37	chr19	22605014	22605014	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccatttctaggcttccaaGgggtcctggcatcttagctg	10	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:22605014G>T	uc002nqt.2	-	1	135	c.13C>A	c.(13-15)CTT>ATT	p.L5I		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AGGCTTCCAAGGGGTCCTGGC	0.602													T	22605014	G	T	22605014	3	4	104	1	0	0	0	0	1	0	0	0	18200	1000	35	5	1721	5	ZNF98	19	22605014	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	29343	22605014	36523969	6057	72671											
ZNF492	57615	broad.mit.edu	37	chr19	22836210	22836210	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tataggaatgtgatgttagaGaactacagaaacctggtctt	10	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:22836210G>T	uc002nqw.3	+	2	253	c.9G>T	c.(7-9)GAG>GAT	p.E3D		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	3	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TGATGTTAGAGAACTACAGAA	0.383													T	22836210	G	T	22836210	3	4	104	1	0	0	0	0	1	0	0	0	17940	933	33	5	11	5	ZNF492	19	22836210	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	231196	22836210	36292773	6058	72672											
ZNF99	7652	broad.mit.edu	37	chr19	22939805	22939805	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttatgtttcctaagggctgaGaaattgctaaaagctttgcc	9	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:22939805G>T	uc010xrh.1	-	6	2526	c.2526C>A	c.(2524-2526)TTC>TTA	p.F842L		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TAAGGGCTGAGAAATTGCTAA	0.348													T	22939805	G	T	22939805	3	4	104	1	0	0	0	0	1	0	0	0	18201	933	33	5	594	5	ZNF99	19	22939805	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	103595	22939805	36189178	6059	72673											
ZNF99	7652	broad.mit.edu	37	chr19	22941589	22941589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattgctaaaagctttgccGcattcttcatatttgtaggg	8	7	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:22941589G>A	uc010xrh.1	-	5	849	c.849C>T	c.(847-849)TGC>TGT	p.C283C		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGCTTTGCCGCATTCTTCAT	0.363													A	22941589	G	A	22941589	2	1	104	1	0	0	0	0	0	0	0	1	18201	1079	38	1		1	ZNF99	19	22941589	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1784	22941589	36187394	6060	72674											
ZNF99	7652	broad.mit.edu	37	chr19	22942430	22942430	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcaatattatttcttggaaaGaatcttttatgctctgatct	5	6	5	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:22942430G>T	uc010xrh.1	-	4	344	c.344C>A	c.(343-345)TCT>TAT	p.S115Y		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTCTTGGAAAGAATCTTTTAT	0.318													T	22942430	G	T	22942430	3	4	104	1	0	0	0	0	1	0	0	0	18201	942	33	5	2784	5	ZNF99	19	22942430	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	841	22942430	36186553	6061	72675											
ZNF91	7644	broad.mit.edu	37	chr19	23543666	23543666	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctctccagcatgtattatTttatgtttagtaagggttga	8	5	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:23543666T>G	uc002nre.2	-	4	2228	c.2115A>C	c.(2113-2115)AAA>AAC	p.K705N	ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.K673N	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	705	C2H2-type 20.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CATGTATTATTTTATGTTTAG	0.328													G	23543666	T	G	23543666	3	3	104	1	0	0	0	0	1	0	0	0	18197	1838	64	5	1464	5	ZNF91	19	23543666	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	601236	23543666	35585317	6062	72676											
ZNF91	7644	broad.mit.edu	37	chr19	23545151	23545151	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcacattctttacatttAcaggacttctctgtaatata	3	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:23545151A>G	uc002nre.2	-	4	743	c.630T>C	c.(628-630)TGT>TGC	p.C210C	ZNF91_uc010xrj.1_Silent_p.C178C	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	210	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CTTTACATTTACAGGACTTCT	0.328													G	23545151	A	G	23545151	2	3	104	1	0	0	0	0	0	0	0	1	18197	389	14	3		3	ZNF91	19	23545151	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1485	23545151	35583832	6063	72677											
ZNF91	7644	broad.mit.edu	37	chr19	23545287	23545287	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtttgaatttaaaaatTtatagaagactttcaaatat	5	3	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:23545287T>G	uc002nre.2	-	4	607	c.494A>C	c.(493-495)AAA>ACA	p.K165T	ZNF91_uc010xrj.1_Missense_Mutation_p.K133T	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	165	C2H2-type 1; degenerate.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ATTTAAAAATTTATAGAAGAC	0.323													G	23545287	T	G	23545287	3	3	104	1	0	0	0	0	1	0	0	0	18197	1841	64	5	3085	5	ZNF91	19	23545287	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	136	23545287	35583696	6064	72678											
ZNF675	171392	broad.mit.edu	37	chr19	23836488	23836488	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtttctctccagtgtgaattCtcttatgtgtagtaagggct	10	7	2	1	rs139009438		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:23836488C>T	uc002nri.2	-	4	1429	c.1247G>A	c.(1246-1248)AGA>AAA	p.R416K		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	zinc finger protein 675	416	C2H2-type 10.				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGTGTGAATTCTCTTATGTGT	0.378													T	23836488	C	T	23836488	3	4	104	1	0	0	0	0	1	0	0	0	18079	913	32	4	463	4	ZNF675	19	23836488	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	291201	23836488	35292495	6065	72679											
ZNF681	148213	broad.mit.edu	37	chr19	23927763	23927763	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtcttcacatttgtagaAatttactctagtacaaatta	4	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:23927763A>C	uc002nrk.3	-	4	731	c.589T>G	c.(589-591)TTC>GTC	p.F197V	ZNF681_uc002nrl.3_Missense_Mutation_p.F128V|ZNF681_uc002nrj.3_Missense_Mutation_p.F128V	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CATTTGTAGAAATTTACTCTA	0.279													C	23927763	A	C	23927763	3	2	104	1	0	0	0	0	1	0	0	0	18085	14	1	5	1352	5	ZNF681	19	23927763	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	91275	23927763	35201220	6066	72680											
ZNF681	148213	broad.mit.edu	37	chr19	23927902	23927902	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaatttgaaaatttatgaaaGattttcatatatttatcaca	3	3	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:23927902G>T	uc002nrk.3	-	4	592	c.450C>A	c.(448-450)ATC>ATA	p.I150I	ZNF681_uc002nrl.3_Silent_p.I81I|ZNF681_uc002nrj.3_Silent_p.I81I	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	150	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATTTATGAAAGATTTTCATAT	0.284													T	23927902	G	T	23927902	2	4	104	1	0	0	0	0	0	0	0	1	18085	932	33	5		5	ZNF681	19	23927902	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	139	23927902	35201081	6067	72681											
ZNF507	22847	broad.mit.edu	37	chr19	32873490	32873490	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacaaggctattaacgacgcGatttcacaaagtggcaggta	10	8	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:32873490G>A	uc002nte.2	+	6	2750	c.2478G>A	c.(2476-2478)GCG>GCA	p.A826A	ZNF507_uc002ntd.2_Silent_p.A826A	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	826					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(110;0.162)					TTAACGACGCGATTTCACAAA	0.398													A	32873490	G	A	32873490	2	1	104	1	0	0	0	0	0	0	0	1	17950	1045	37	1		1	ZNF507	19	32873490	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	8945588	32873490	26255493	6068	72682											
RGS9BP	388531	broad.mit.edu	37	chr19	33167820	33167820	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccctggccgccatccttttCggcgccgtgctgctggcggc	14	17	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:33167820C>T	uc002ntp.1	+	1	1508	c.651C>T	c.(649-651)TTC>TTT	p.F217F	ANKRD27_uc002ntn.1_5'Flank|ANKRD27_uc002nto.1_5'Flank	NM_207391	NP_997274	Q6ZS82	R9BP_HUMAN	RGS9 anchor protein	217	Helical; Anchor for type IV membrane protein; (Potential).				negative regulation of signal transduction	integral to membrane				central_nervous_system(1)	1	Esophageal squamous(110;0.137)					CCATCCTTTTCGGCGCCGTGC	0.726													T	33167820	C	T	33167820	2	4	104	1	0	0	0	0	0	0	0	1	13314	883	31	1		1	RGS9BP	19	33167820	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	294330	33167820	25961163	6069	72683											
GPATCH1	55094	broad.mit.edu	37	chr19	33617545	33617545	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaagcaaaagaataaaaaaCcagagaaaagtagtagctcc	8	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:33617545C>A	uc002nug.1	+	19	2985	c.2671C>A	c.(2671-2673)CCA>ACA	p.P891T	GPATCH1_uc002nuh.1_Missense_Mutation_p.P268T	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	891						catalytic step 2 spliceosome	nucleic acid binding			skin(1)	1	Esophageal squamous(110;0.137)					GAATAAAAAACCAGAGAAAAG	0.468											OREG0025410	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	33617545	C	A	33617545	3	1	104	1	0	0	0	0	1	0	0	0	6590	507	18	5	2745	5	GPATCH1	19	33617545	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	449725	33617545	25511438	6070	72684											
LSR	51599	broad.mit.edu	37	chr19	35757270	35757270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcctcacagtgtatgccGccggcaaagcagccacctca	10	15	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:35757270G>A	uc002nyl.2	+	6	1154	c.931G>A	c.(931-933)GCC>ACC	p.A311T	LSR_uc002nym.2_Missense_Mutation_p.A292T|LSR_uc002nyn.2_Missense_Mutation_p.A243T|LSR_uc002nyo.2_Missense_Mutation_p.A292T|LSR_uc010xsr.1_Missense_Mutation_p.A203T|LSR_uc002nyp.2_Missense_Mutation_p.A274T|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	311	Cytoplasmic (Potential).				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGTGTATGCCGCCGGCAAAGC	0.622													A	35757270	G	A	35757270	3	1	104	1	0	0	0	0	1	0	0	0	9064	1087	38	1	953	1	LSR	19	35757270	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2139725	35757270	23371713	6071	72685											
CD22	933	broad.mit.edu	37	chr19	35832350	35832350	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctcaagcagccaccccaaaGaagtccagttcttctgggag	9	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:35832350G>T	uc010edt.2	+	8	1689	c.1612G>T	c.(1612-1614)GAA>TAA	p.E538*	CD22_uc010xst.1_Nonsense_Mutation_p.E366*|CD22_uc010edu.2_Nonsense_Mutation_p.E450*|CD22_uc010edv.2_Nonsense_Mutation_p.E538*|CD22_uc002nzb.3_Nonsense_Mutation_p.E361*|CD22_uc010edx.2_RNA	NM_001771	NP_001762	P20273	CD22_HUMAN	CD22 molecule precursor	538	Extracellular (Potential).|Ig-like C2-type 5.				cell adhesion		protein binding|sugar binding			ovary(5)|lung(3)|breast(1)	9	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CCACCCCAAAGAAGTCCAGTT	0.527													T	35832350	G	T	35832350	4	4	104	1	0	0	0	0	0	1	0	0	2985	943	33	5	1638	5	CD22	19	35832350	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	75080	35832350	23296633	6072	72686											
UPK1A	11045	broad.mit.edu	37	chr19	36168723	36168723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccctgcccagggctgcttcGaacacatcggccacgccatc	9	19	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:36168723G>A	uc002oaw.2	+	6	658	c.658G>A	c.(658-660)GAA>AAA	p.E220K	UPK1A_uc010eeh.2_Silent_p.S252S	NM_007000	NP_008931	O00322	UPK1A_HUMAN	uroplakin 1A	220	Extracellular (Potential).				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity				0	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGCTGCTTCGAACACATCGG	0.537													A	36168723	G	A	36168723	3	1	104	1	0	0	0	0	1	0	0	0	17004	1059	37	1	680	1	UPK1A	19	36168723	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	336373	36168723	22960260	6073	72687											
ZBTB32	27033	broad.mit.edu	37	chr19	36207046	36207046	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccccacaggcgcacttgcaAcctgtgcgggtcatgaggac	12	14	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:36207046A>G	uc002oay.2	+	5	1246	c.1036A>G	c.(1036-1038)ACC>GCC	p.T346A	ZBTB32_uc002oaz.2_RNA|MLL4_uc010eei.2_5'Flank	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	346					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			ovary(1)|skin(1)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGCACTTGCAACCTGTGCGGG	0.642													G	36207046	A	G	36207046	3	3	104	1	0	0	0	0	1	0	0	0	17532	43	2	3	1050	3	ZBTB32	19	36207046	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	38323	36207046	22921937	6074	72688											
PSENEN	55851	broad.mit.edu	37	chr19	36236861	36236861	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagcgagtgtccaatgaggaGaaattgaacctgtgccggaa	14	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:36236861G>T	uc002obi.1	+	2	234	c.30G>T	c.(28-30)GAG>GAT	p.E10D	TMEM149_uc010eej.2_5'Flank|U2AF1L4_uc002obh.1_5'Flank|U2AF1L4_uc002obe.2_5'Flank|U2AF1L4_uc002obf.2_5'Flank|U2AF1L4_uc002obg.2_5'Flank|PSENEN_uc002obj.1_Missense_Mutation_p.E10D|PSENEN_uc002obk.1_RNA|LIN37_uc002obm.2_5'Flank	NM_172341	NP_758844	Q9NZ42	PEN2_HUMAN	presenilin enhancer 2	10	Lumenal (Potential).			E->S: Induces a N-linked glycosylation on N-8.	amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	aspartic-type endopeptidase activity|protein binding			ovary(2)	2	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAATGAGGAGAAATTGAACC	0.448													T	36236861	G	T	36236861	3	4	104	1	0	0	0	0	1	0	0	0	12652	933	33	5	32	5	PSENEN	19	36236861	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	29815	36236861	22892122	6075	72689											
LIN37	55957	broad.mit.edu	37	chr19	36243362	36243362	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgaggaagctgggaaAacaccctcagacacccacaa	10	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:36243362A>C	uc002obm.2	+	3	252	c.138A>C	c.(136-138)AAA>AAC	p.K46N	PSENEN_uc002obk.1_RNA|uc002obl.2_RNA	NM_019104	NP_061977	Q96GY3	LIN37_HUMAN	lin-37 homolog	46							protein binding				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCTGGGAAAACACCCTCAG	0.532													C	36243362	A	C	36243362	3	2	104	1	0	0	0	0	1	0	0	0	8807	11	1	5	148	5	LIN37	19	36243362	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	6501	36243362	22885621	6076	72690											
LIN37	55957	broad.mit.edu	37	chr19	36245009	36245009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagatgcctgcagatcccGcatcccatctccactgcagc	9	17	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:36245009G>A	uc002obm.2	+	8	650	c.536G>A	c.(535-537)CGC>CAC	p.R179H	uc002obl.2_5'Flank	NM_019104	NP_061977	Q96GY3	LIN37_HUMAN	lin-37 homolog	179	Pro-rich.						protein binding				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCAGATCCCGCATCCCATCT	0.632													A	36245009	G	A	36245009	3	1	104	1	0	0	0	0	1	0	0	0	8807	1087	38	1	562	1	LIN37	19	36245009	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1647	36245009	22883974	6077	72691											
PRODH2	58510	broad.mit.edu	37	chr19	36304052	36304052	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacttaatcacttttgtgGcaattgcttcctcttaaaat	5	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:36304052G>A	uc002obx.1	-	1	150	c.132C>T	c.(130-132)TGC>TGT	p.C44C		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	kidney and liver proline oxidase 1	44					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			ovary(2)	2	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			cacttttgtggcaattgcttc	0.055													A	36304052	G	A	36304052	2	1	104	1	0	0	0	0	0	0	0	1	12549	1195	42	2		2	PRODH2	19	36304052	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	59043	36304052	22824931	6078	72692											
NPHS1	4868	broad.mit.edu	37	chr19	36341894	36341894	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgatgtcaggtgctggcttCgcgtccccagacacacagtt	12	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:36341894C>T	uc002oby.2	-	4	495	c.495G>A	c.(493-495)GCG>GCA	p.A165A		NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	165	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGCTGGCTTCGCGTCCCCAG	0.607													T	36341894	C	T	36341894	2	4	104	1	0	0	0	0	0	0	0	1	10582	871	31	1		1	NPHS1	19	36341894	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	37842	36341894	22787089	6079	72693											
ZFP82	284406	broad.mit.edu	37	chr19	36896524	36896524	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctcacaactttccaaggctCttttccttgctccaatgagg	6	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:36896524C>A	uc002ody.1	-	4	422	c.187G>T	c.(187-189)GAG>TAG	p.E63*		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	zinc finger protein 82 homolog	63	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						TTCCAAGGCTCTTTTCCTTGC	0.418													A	36896524	C	A	36896524	4	1	104	1	0	0	0	0	0	1	0	0	17650	922	32	5	1419	5	ZFP82	19	36896524	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	554630	36896524	22232459	6080	72694											
ZNF461	92283	broad.mit.edu	37	chr19	37130848	37130848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgatctctcaggactatgGcttttaaattcttccatgtt	6	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:37130848G>A	uc002oem.2	-	6	627	c.399C>T	c.(397-399)AGC>AGT	p.S133S	ZNF461_uc002oen.2_Silent_p.S102S|ZNF461_uc010xtj.1_Silent_p.S110S	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	gonadotropin inducible transcription repressor	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CAGGACTATGGCTTTTAAATT	0.408													A	37130848	G	A	37130848	2	1	104	1	0	0	0	0	0	0	0	1	17922	1194	42	2		2	ZNF461	19	37130848	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	234324	37130848	21998135	6081	72695											
ZNF790	388536	broad.mit.edu	37	chr19	37309846	37309846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtatgaattttctgatgtCgattaaactctgagccatga	8	7	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:37309846C>T	uc002oew.2	-	5	1519	c.1400G>A	c.(1399-1401)CGA>CAA	p.R467Q	uc002oev.1_Intron	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	zinc finger protein 790	467	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTTCTGATGTCGATTAAACTC	0.368													T	37309846	C	T	37309846	3	4	104	1	0	0	0	0	1	0	0	0	18159	884	31	1	514	1	ZNF790	19	37309846	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	178998	37309846	21819137	6082	72696											
ZNF790	388536	broad.mit.edu	37	chr19	37310341	37310341	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttttcaccagtatgaattCtctgatgtcgagtaagatct	8	7	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:37310341C>A	uc002oew.2	-	5	1024	c.905G>T	c.(904-906)AGA>ATA	p.R302I	uc002oev.1_Intron	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	zinc finger protein 790	302	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGTATGAATTCTCTGATGTCG	0.383													A	37310341	C	A	37310341	3	1	104	1	0	0	0	0	1	0	0	0	18159	913	32	5	1009	5	ZNF790	19	37310341	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	495	37310341	21818642	6083	72697											
ZNF345	25850	broad.mit.edu	37	chr19	37368393	37368393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttcaaaccttactcaacatCggcggattcatactggtgag	9	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:37368393C>T	uc002oex.2	+	3	1039	c.661C>T	c.(661-663)CGG>TGG	p.R221W	ZNF345_uc002oey.3_Missense_Mutation_p.R221W|ZNF345_uc002oez.2_Intron	NM_003419	NP_003410	Q14585	ZN345_HUMAN	zinc finger protein 345	221	C2H2-type 6.				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACTCAACATCGGCGGATTCA	0.448													T	37368393	C	T	37368393	3	4	104	1	0	0	0	0	1	0	0	0	17856	875	31	1	663	1	ZNF345	19	37368393	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	58052	37368393	21760590	6084	72698											
ZNF345	25850	broad.mit.edu	37	chr19	37369178	37369178	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataatggtaagaaactctgCgaattggaaactataaattg	8	5	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:37369178C>T	uc002oex.2	+	3	1824	c.1446C>T	c.(1444-1446)TGC>TGT	p.C482C	ZNF345_uc002oey.3_Silent_p.C482C|ZNF345_uc002oez.2_Intron	NM_003419	NP_003410	Q14585	ZN345_HUMAN	zinc finger protein 345	482					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAAACTCTGCGAATTGGAAA	0.343													T	37369178	C	T	37369178	2	4	104	1	0	0	0	0	0	0	0	1	17856	776	27	1		1	ZNF345	19	37369178	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	785	37369178	21759805	6085	72699											
ZNF829	374899	broad.mit.edu	37	chr19	37382420	37382420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtatgaattccctcatggcGaatgaggtcagagcgactac	11	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:37382420G>A	uc002ofa.1	-	6	1635	c.1273C>T	c.(1273-1275)CGC>TGC	p.R425C	ZNF345_uc002oez.2_Intron	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	425	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCTCATGGCGAATGAGGTCA	0.378													A	37382420	G	A	37382420	3	1	104	1	0	0	0	0	1	0	0	0	18179	1058	37	1	29	1	ZNF829	19	37382420	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13242	37382420	21746563	6086	72700											
ZNF829	374899	broad.mit.edu	37	chr19	37382971	37382971	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttccacattccttacatTcatagggtttctcaccagtg	5	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:37382971T>G	uc002ofa.1	-	6	1084	c.722A>C	c.(721-723)GAA>GCA	p.E241A	ZNF345_uc002oez.2_Intron	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	241	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCCTTACATTCATAGGGTTT	0.368													G	37382971	T	G	37382971	3	3	104	1	0	0	0	0	1	0	0	0	18179	1783	62	5	580	5	ZNF829	19	37382971	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	551	37382971	21746012	6087	72701											
ZNF829	374899	broad.mit.edu	37	chr19	37399357	37399357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacatccctgaacatcaccGgcccctgaaacaacaaacat	4	15	1	2	rs76856236	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:37399357G>A	uc002ofa.1	-	4	463	c.101C>T	c.(100-102)CCG>CTG	p.P34L	ZNF345_uc002oez.2_Intron|ZNF829_uc002ofb.2_Missense_Mutation_p.P34L	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAACATCACCGGCCCCTGAAA	0.428													A	37399357	G	A	37399357	3	1	104	1	0	0	0	0	1	0	0	0	18179	1116	39	1	1209	1	ZNF829	19	37399357	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	16386	37399357	21729626	6088	72702											
ZNF568	374900	broad.mit.edu	37	chr19	37440603	37440603	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactgtgactcacttgataAgggtttggaacataatttag	10	5	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:37440603A>C	uc002ofc.2	+	7	1063	c.548A>C	c.(547-549)AAG>ACG	p.K183T	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.K107T|ZNF568_uc010efe.2_Missense_Mutation_p.K107T|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACTTGATAAGGGTTTGGAA	0.348													C	37440603	A	C	37440603	3	2	104	1	0	0	0	0	1	0	0	0	17996	72	3	5	566	5	ZNF568	19	37440603	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	41246	37440603	21688380	6089	72703											
ZNF568	374900	broad.mit.edu	37	chr19	37441368	37441368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atccctaaccgtacatatgcGaaatcatacagctgagaaac	6	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:37441368G>A	uc002ofc.2	+	7	1828	c.1313G>A	c.(1312-1314)CGA>CAA	p.R438Q	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.R362Q|ZNF568_uc010efe.2_Missense_Mutation_p.R362Q|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	438	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTACATATGCGAAATCATACA	0.393													A	37441368	G	A	37441368	3	1	104	1	0	0	0	0	1	0	0	0	17996	1058	37	1	1331	1	ZNF568	19	37441368	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	765	37441368	21687615	6090	72704											
ZNF568	374900	broad.mit.edu	37	chr19	37441536	37441536	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaacctcattcgacaccagaGaattcatacgggtgagaaac	8	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:37441536G>T	uc002ofc.2	+	7	1996	c.1481G>T	c.(1480-1482)AGA>ATA	p.R494I	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.R418I|ZNF568_uc010efe.2_Missense_Mutation_p.R418I|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	494	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CGACACCAGAGAATTCATACG	0.393													T	37441536	G	T	37441536	3	4	104	1	0	0	0	0	1	0	0	0	17996	942	33	5	1499	5	ZNF568	19	37441536	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	168	37441536	21687447	6091	72705											
ZNF383	163087	broad.mit.edu	37	chr19	37734483	37734483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattcacactggtgaaaagCcctataactgtaaggaatgt	9	7	1	1	rs149725989		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:37734483C>T	uc002oft.1	+	8	1925	c.1345C>T	c.(1345-1347)CCC>TCC	p.P449S	ZNF383_uc002ofs.1_Missense_Mutation_p.P384S|ZNF383_uc002ofu.1_Missense_Mutation_p.P449S	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	zinc finger protein 383	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGTGAAAAGCCCTATAACTG	0.363													T	37734483	C	T	37734483	3	4	104	1	0	0	0	0	1	0	0	0	17871	739	26	2	1359	2	ZNF383	19	37734483	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	292947	37734483	21394500	6092	72706											
ZNF527	84503	broad.mit.edu	37	chr19	37870123	37870123	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tacagagatgtcatgttggaGaactacaggaacttggtatg	12	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:37870123G>T	uc010efk.1	+	3	246	c.135G>T	c.(133-135)GAG>GAT	p.E45D	ZNF527_uc002ogf.3_Missense_Mutation_p.E45D|ZNF527_uc010xtq.1_RNA|ZNF527_uc002oge.2_Missense_Mutation_p.E45D	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	zinc finger protein 527	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCATGTTGGAGAACTACAGGA	0.438													T	37870123	G	T	37870123	3	4	104	1	0	0	0	0	1	0	0	0	17965	933	33	5	141	5	ZNF527	19	37870123	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	135640	37870123	21258860	6093	72707											
ZNF527	84503	broad.mit.edu	37	chr19	37880588	37880588	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atatcttaatcaacatcaaaGaattcatactggagagaaac	5	7	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:37880588G>T	uc010efk.1	+	5	1748	c.1637G>T	c.(1636-1638)AGA>ATA	p.R546I	ZNF527_uc002ogf.3_Missense_Mutation_p.R514I|ZNF527_uc010xtq.1_RNA	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	zinc finger protein 527	546	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAACATCAAAGAATTCATACT	0.403													T	37880588	G	T	37880588	3	4	104	1	0	0	0	0	1	0	0	0	17965	942	33	5	1651	5	ZNF527	19	37880588	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	10465	37880588	21248395	6094	72708											
ZNF569	148266	broad.mit.edu	37	chr19	37903657	37903657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttccacatttactacagtCgaagggtttctcacctgtat	6	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:37903657C>T	uc002ogi.2	-	6	2461	c.1903G>A	c.(1903-1905)GAC>AAC	p.D635N	ZNF569_uc002ogh.2_Missense_Mutation_p.D476N|ZNF569_uc002ogj.2_Missense_Mutation_p.D659N	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	635	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTACTACAGTCGAAGGGTTTC	0.403													T	37903657	C	T	37903657	3	4	104	1	0	0	0	0	1	0	0	0	17997	884	31	1	161	1	ZNF569	19	37903657	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	23069	37903657	21225326	6095	72709											
ZNF569	148266	broad.mit.edu	37	chr19	37904545	37904545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catatgaagagcaagggatgCaattcgagggaaggctttac	13	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:37904545C>T	uc002ogi.2	-	6	1573	c.1015G>A	c.(1015-1017)GCA>ACA	p.A339T	ZNF569_uc002ogh.2_Missense_Mutation_p.A180T|ZNF569_uc002ogj.2_Missense_Mutation_p.A363T	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	339	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCAAGGGATGCAATTCGAGGG	0.393													T	37904545	C	T	37904545	3	4	104	1	0	0	0	0	1	0	0	0	17997	710	25	2	1049	2	ZNF569	19	37904545	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	888	37904545	21224438	6096	72710											
ZNF570	148268	broad.mit.edu	37	chr19	37966812	37966812	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accttcagagatgtggctgtAgacttctcccaagaggaatg	11	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:37966812A>C	uc002ogk.1	+	3	592	c.63A>C	c.(61-63)GTA>GTC	p.V21V	ZNF570_uc010efl.1_Silent_p.V77V|ZNF570_uc010xtr.1_5'UTR	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	zinc finger protein 570	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGTGGCTGTAGACTTCTCCC	0.318													C	37966812	A	C	37966812	2	2	104	1	0	0	0	0	0	0	0	1	17999	407	15	5		5	ZNF570	19	37966812	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	62267	37966812	21162171	6097	72711											
ZNF570	148268	broad.mit.edu	37	chr19	37975024	37975024	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagagaacaagaatataaatCttggggaagttttcatcaga	10	4	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:37975024C>A	uc002ogk.1	+	5	1029	c.500C>A	c.(499-501)TCT>TAT	p.S167Y	ZNF570_uc010efl.1_Missense_Mutation_p.S223Y|ZNF570_uc010xtr.1_5'UTR	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	zinc finger protein 570	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAATATAAATCTTGGGGAAGT	0.368													A	37975024	C	A	37975024	3	1	104	1	0	0	0	0	1	0	0	0	17999	913	32	5	514	5	ZNF570	19	37975024	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	8212	37975024	21153959	6098	72712											
ZNF571	51276	broad.mit.edu	37	chr19	38056098	38056098	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcttctctccggtatgaattCtttgatgttgaataagatta	8	6	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:38056098C>A	uc002ogt.2	-	4	1333	c.1232G>T	c.(1231-1233)AGA>ATA	p.R411I	uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Missense_Mutation_p.R411I	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	411	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTATGAATTCTTTGATGTTG	0.373													A	38056098	C	A	38056098	3	1	104	1	0	0	0	0	1	0	0	0	18000	913	32	5	601	5	ZNF571	19	38056098	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	81074	38056098	21072885	6099	72713											
ZFP30	22835	broad.mit.edu	37	chr19	38126696	38126696	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcctctaactctaaaggctTtcccacattctttacattca	3	13	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:38126696T>G	uc002ogv.1	-	6	1262	c.746A>C	c.(745-747)AAA>ACA	p.K249T	ZFP30_uc002ogw.1_Missense_Mutation_p.K249T|ZFP30_uc002ogx.1_Missense_Mutation_p.K249T|ZFP30_uc010xtt.1_Missense_Mutation_p.K248T	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	249	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTAAAGGCTTTCCCACATTC	0.403													G	38126696	T	G	38126696	3	3	104	1	0	0	0	0	1	0	0	0	17641	1841	64	5	817	5	ZFP30	19	38126696	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	70598	38126696	21002287	6100	72714											
ZNF573	126231	broad.mit.edu	37	chr19	38229502	38229502	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctcaccagtatgaattCtctcatgttgaacaaggttt	7	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:38229502C>A	uc002ohe.2	-	4	1911	c.1889G>T	c.(1888-1890)AGA>ATA	p.R630I	ZNF573_uc010efs.2_Missense_Mutation_p.R543I|ZNF573_uc002ohd.2_Missense_Mutation_p.R628I|ZNF573_uc002ohf.2_Missense_Mutation_p.R572I|ZNF573_uc002ohg.2_Missense_Mutation_p.R542I	NM_152360	NP_689573	Q86YE8	ZN573_HUMAN	zinc finger protein 573	610	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			AGTATGAATTCTCTCATGTTG	0.413													A	38229502	C	A	38229502	3	1	104	1	0	0	0	0	1	0	0	0	18002	913	32	5	112	5	ZNF573	19	38229502	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	102806	38229502	20899481	6101	72715											
SIPA1L3	23094	broad.mit.edu	37	chr19	38610322	38610322	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtggaaatcgactgcattTtgggaatttccaatgagttt	12	5	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:38610322T>C	uc002ohk.2	+	9	3177	c.2668T>C	c.(2668-2670)TTG>CTG	p.L890L		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	890					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGACTGCATTTTGGGAATTTC	0.587													C	38610322	T	C	38610322	2	2	104	1	0	0	0	0	0	0	0	1	14331	1838	64	3		3	SIPA1L3	19	38610322	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	380820	38610322	20518661	6102	72716											
FAM98C	147965	broad.mit.edu	37	chr19	38899392	38899392	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatctcataaactctcaggTgcttatgggcaacgttccag	8	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:38899392T>C	uc002oin.1	+	8	939	c.920T>C	c.(919-921)GTG>GCG	p.V307A	FAM98C_uc002oio.1_Missense_Mutation_p.V225A|FAM98C_uc010xtz.1_Silent_p.G173G	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	hypothetical protein LOC147965	307										skin(1)	1	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AACTCTCAGGTGCTTATGGGC	0.557													C	38899392	T	C	38899392	3	2	104	1	0	0	0	0	1	0	0	0	5658	1710	59	3	950	3	FAM98C	19	38899392	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	289070	38899392	20229591	6103	72717											
RYR1	6261	broad.mit.edu	37	chr19	38959681	38959681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtcgttggctgtatgatcGacctcacagagaacaccatt	9	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:38959681G>A	uc002oit.2	+	26	3587	c.3457G>A	c.(3457-3459)GAC>AAC	p.D1153N	RYR1_uc002oiu.2_Missense_Mutation_p.D1153N	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1153	6 X approximate repeats.|Cytoplasmic.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGTATGATCGACCTCACAGA	0.582													A	38959681	G	A	38959681	3	1	104	1	0	0	0	0	1	0	0	0	13768	1058	37	1	3559	1	RYR1	19	38959681	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	60289	38959681	20169302	6104	72718											
IL29	282618	broad.mit.edu	37	chr19	39789108	39789108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagacctcaaatatgtggcCgatgggaacctgtgtctgag	13	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:39789108C>T	uc002okv.2	+	5	652	c.555C>T	c.(553-555)GCC>GCT	p.A185A		NM_172140	NP_742152	Q8IU54	IL29_HUMAN	interleukin 29 precursor	185					defense response to virus|negative regulation of cell proliferation|negative regulation of interleukin-13 production|negative regulation of interleukin-5 production|negative regulation of memory T cell differentiation|negative regulation of transcription, DNA-dependent|negative regulation of type 2 immune response|positive regulation of immune response|positive regulation of interferon-gamma production|positive regulation of MHC class I biosynthetic process|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of STAT protein	extracellular space|interleukin-28 receptor complex	cytokine activity|interleukin-28 receptor binding				0	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AATATGTGGCCGATGGGAACC	0.557													T	39789108	C	T	39789108	2	4	104	1	0	0	0	0	0	0	0	1	7685	639	23	1		1	IL29	19	39789108	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	829427	39789108	19339875	6105	72719											
LRFN1	57622	broad.mit.edu	37	chr19	39804604	39804604	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcatcaacggaactgttgTactgaacctggtacatgcgt	10	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:39804604T>C	uc002okw.2	-	1	1373	c.1373A>G	c.(1372-1374)TAC>TGC	p.Y458C		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	458	Fibronectin type-III.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGAACTGTTGTACTGAACCTG	0.657													C	39804604	T	C	39804604	3	2	104	1	0	0	0	0	1	0	0	0	8937	1638	57	3	950	3	LRFN1	19	39804604	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	15496	39804604	19324379	6106	72720											
PLEKHG2	64857	broad.mit.edu	37	chr19	39911616	39911616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggccctctgtgattcGccgaggccgcaggcagtctg	14	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:39911616G>A	uc010xuz.1	+	14	1752	c.1427G>A	c.(1426-1428)CGC>CAC	p.R476H	PLEKHG2_uc010xuy.1_Missense_Mutation_p.R417H|PLEKHG2_uc002olj.2_Missense_Mutation_p.R476H|PLEKHG2_uc010xva.1_Intron	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	476					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCTGTGATTCGCCGAGGCCGC	0.672													A	39911616	G	A	39911616	3	1	104	1	0	0	0	0	1	0	0	0	12069	1087	38	1	1477	1	PLEKHG2	19	39911616	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	107012	39911616	19217367	6107	72721											
FCGBP	8857	broad.mit.edu	37	chr19	40392521	40392521	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggctggagaggagcccacaGaactcctccttctgatactt	11	12	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:40392521G>T	uc002omp.3	-	16	7991	c.7983C>A	c.(7981-7983)TTC>TTA	p.F2661L		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	2661	VWFD 6.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGAGCCCACAGAACTCCTCCT	0.632													T	40392521	G	T	40392521	3	4	104	1	0	0	0	0	1	0	0	0	5778	933	33	5	8318	5	FCGBP	19	40392521	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	480905	40392521	18736462	6108	72722											
ZNF546	339327	broad.mit.edu	37	chr19	40521315	40521315	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcgacttacattacatcaaaGaattcacactggtgagcttc	6	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:40521315G>T	uc002oms.2	+	7	2394	c.2138G>T	c.(2137-2139)AGA>ATA	p.R713I	ZNF546_uc002omt.2_Missense_Mutation_p.R687I	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	zinc finger protein 546	713	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTACATCAAAGAATTCACACT	0.388													T	40521315	G	T	40521315	3	4	104	1	0	0	0	0	1	0	0	0	17975	942	33	5	2156	5	ZNF546	19	40521315	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	128794	40521315	18607668	6109	72723											
ZNF780B	163131	broad.mit.edu	37	chr19	40540394	40540394	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagaaagttgtaggtgaagtCtaaaagccttcccacactcc	9	10	1	2	rs1831061		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:40540394C>A	uc002omu.2	-	5	2437	c.2372G>T	c.(2371-2373)AGA>ATA	p.R791I	ZNF780B_uc002omv.2_Missense_Mutation_p.R643I	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	791	C2H2-type 23; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TAGGTGAAGTCTAAAAGCCTT	0.423													A	40540394	C	A	40540394	3	1	104	1	0	0	0	0	1	0	0	0	18150	913	32	5	133	5	ZNF780B	19	40540394	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	19079	40540394	18588589	6110	72724											
ZNF780B	163131	broad.mit.edu	37	chr19	40540950	40540950	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcttctcaccagtatgaaAtttctgatgtcgaataaggt	10	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:40540950A>C	uc002omu.2	-	5	1881	c.1816T>G	c.(1816-1818)TTT>GTT	p.F606V	ZNF780B_uc002omv.2_Missense_Mutation_p.F458V	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	606	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CCAGTATGAAATTTCTGATGT	0.408													C	40540950	A	C	40540950	3	2	104	1	0	0	0	0	1	0	0	0	18150	101	4	5	689	5	ZNF780B	19	40540950	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	556	40540950	18588033	6111	72725											
ZNF780B	163131	broad.mit.edu	37	chr19	40541040	40541040	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttccggtatgaatacttcGatgttgattaagatttgaac	8	6	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:40541040G>A	uc002omu.2	-	5	1791	c.1726C>T	c.(1726-1728)CGA>TGA	p.R576*	ZNF780B_uc002omv.2_Nonsense_Mutation_p.R428*	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	576	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGAATACTTCGATGTTGATTA	0.378													A	40541040	G	A	40541040	4	1	104	1	0	0	0	0	0	1	0	0	18150	1066	37	1	779	1	ZNF780B	19	40541040	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	90	40541040	18587943	6112	72726											
ZNF780B	163131	broad.mit.edu	37	chr19	40541891	40541891	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattttttgatgctgaataAgatttgaaccacgattaaag	8	4	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:40541891A>C	uc002omu.2	-	5	940	c.875T>G	c.(874-876)CTT>CGT	p.L292R	ZNF780B_uc002omv.2_Missense_Mutation_p.L144R	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	292	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATGCTGAATAAGATTTGAACC	0.378													C	40541891	A	C	40541891	3	2	104	1	0	0	0	0	1	0	0	0	18150	72	3	5	1630	5	ZNF780B	19	40541891	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	851	40541891	18587092	6113	72727											
SPTBN4	57731	broad.mit.edu	37	chr19	41063123	41063123	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgggcacacgggcccaGctgctggccgcctctcggga	14	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:41063123G>T	uc002ony.2	+	26	5570	c.5484G>T	c.(5482-5484)CAG>CAT	p.Q1828H	SPTBN4_uc002onx.2_Missense_Mutation_p.Q1828H|SPTBN4_uc002onz.2_Missense_Mutation_p.Q1828H|SPTBN4_uc010egx.2_Missense_Mutation_p.Q571H|SPTBN4_uc002ooa.2_Missense_Mutation_p.Q504H	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1828	Spectrin 15.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACGGGCCCAGCTGCTGGCCG	0.647													T	41063123	G	T	41063123	3	4	104	1	0	0	0	0	1	0	0	0	15120	962	34	5	5582	5	SPTBN4	19	41063123	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	521232	41063123	18065860	6114	72728											
CYP2A13	1553	broad.mit.edu	37	chr19	41597723	41597723	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgcaagggctggaggacttCatcgccaagaaggtggagca	15	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:41597723C>A	uc002opt.2	+	5	750	c.741C>A	c.(739-741)TTC>TTA	p.F247L		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A,	247					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			ovary(2)|skin(1)	3					Clomipramine(DB01242)|Nicotine(DB00184)	TGGAGGACTTCATCGCCAAGA	0.557													A	41597723	C	A	41597723	3	1	104	1	0	0	0	0	1	0	0	0	4161	825	29	5	759	5	CYP2A13	19	41597723	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	534600	41597723	17531260	6115	72729											
CYP2S1	29785	broad.mit.edu	37	chr19	41700500	41700500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacctgggaccgtggcggCctgtggtggtcctggttggg	18	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:41700500C>T	uc002opw.2	+	2	284	c.229C>T	c.(229-231)CCT>TCT	p.P77S	CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_5'UTR	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S,	77					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			skin(1)	1						ACCGTGGCGGCCTGTGGTGGT	0.637													T	41700500	C	T	41700500	3	4	104	1	0	0	0	0	1	0	0	0	4174	739	26	2	235	2	CYP2S1	19	41700500	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	102777	41700500	17428483	6116	72730											
ARHGEF1	9138	broad.mit.edu	37	chr19	42396120	42396120	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtctgcatgccgacatgCtgggctcactgggccccaag	13	14	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:42396120C>T	uc002orx.2	+	5	359	c.250C>T	c.(250-252)CTG>TTG	p.L84L	ARHGEF1_uc002orw.1_Silent_p.L84L|ARHGEF1_uc002ory.2_Intron|ARHGEF1_uc002orz.2_5'UTR|ARHGEF1_uc002osa.2_Silent_p.L99L|ARHGEF1_uc002osb.2_Intron	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	84	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TGCCGACATGCTGGGCTCACT	0.542													T	42396120	C	T	42396120	2	4	104	1	0	0	0	0	0	0	0	1	893	796	28	2		2	ARHGEF1	19	42396120	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	695620	42396120	16732863	6117	72731											
PAFAH1B3	5050	broad.mit.edu	37	chr19	42806432	42806432	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtcctgcaccggcgtgggCttgctggctgggttctcctc	14	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:42806432C>T	uc002otg.2	-	1	365	c.30G>A	c.(28-30)AAG>AAA	p.K10K	PAFAH1B3_uc010xwi.1_Silent_p.K10K|PAFAH1B3_uc010xwj.1_Silent_p.K10K|PRR19_uc002oth.1_5'UTR|PRR19_uc002oti.2_5'UTR	NM_002573	NP_002564	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase,	10					lipid catabolic process|nervous system development	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding				0		Prostate(69;0.0704)				CCGGCGTGGGCTTGCTGGCTG	0.687													T	42806432	C	T	42806432	2	4	104	1	0	0	0	0	0	0	0	1	11386	796	28	2		2	PAFAH1B3	19	42806432	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	410312	42806432	16322551	6118	72732											
LIPE	3991	broad.mit.edu	37	chr19	42912401	42912401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgaggcctgtctcgttgCgtttgtagtgctccccgaag	12	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:42912401C>T	uc002otr.2	-	3	1770	c.1493G>A	c.(1492-1494)CGC>CAC	p.R498H	uc010eif.1_Intron|LIPE_uc002ots.1_Missense_Mutation_p.R243H	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	498					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				TGTCTCGTTGCGTTTGTAGTG	0.632													T	42912401	C	T	42912401	3	4	104	1	0	0	0	0	1	0	0	0	8821	768	27	1	1769	1	LIPE	19	42912401	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	105969	42912401	16216582	6119	72733											
CEACAM8	1088	broad.mit.edu	37	chr19	43087468	43087468	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctctagctgagaggccaggaGaacttccttgtactaaagca	10	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:43087468G>T	uc002oud.2	-	5	1082	c.980C>A	c.(979-981)TCT>TAT	p.S327Y	uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion	327					immune response	anchored to membrane|extracellular space|integral to plasma membrane				ovary(1)	1		Prostate(69;0.00899)				GAGGCCAGGAGAACTTCCTTG	0.473													T	43087468	G	T	43087468	3	4	104	1	0	0	0	0	1	0	0	0	3198	942	33	5	73	5	CEACAM8	19	43087468	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	175067	43087468	16041515	6120	72734											
PSG1	5669	broad.mit.edu	37	chr19	43375919	43375919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaacagaagatactcacGgaggagattcagggtgactg	15	6	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:43375919G>A	uc002ovb.2	-	3	847	c.709C>T	c.(709-711)CCG>TCG	p.P237S	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.P237S|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.P237S|PSG1_uc010eio.1_Missense_Mutation_p.P237S|PSG1_uc002oux.1_Missense_Mutation_p.P166S|PSG1_uc002ouy.1_Missense_Mutation_p.H237Y|PSG1_uc002ouz.1_Missense_Mutation_p.P237S|PSG1_uc002ova.1_Intron|PSG1_uc002ovc.2_Intron|PSG1_uc002ovd.1_Missense_Mutation_p.P237S	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	237					female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				AGATACTCACGGAGGAGATTC	0.537													A	43375919	G	A	43375919	3	1	104	1	0	0	0	0	1	0	0	0	12653	1130	39	1	619	1	PSG1	19	43375919	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	288451	43375919	15753064	6121	72735											
PSG2	5670	broad.mit.edu	37	chr19	43576027	43576027	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgccggtgggttagagttCgcgaagcaagacaagtagag	16	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:43576027C>T	uc002ovr.2	-	4	882	c.789G>A	c.(787-789)GCG>GCA	p.A263A	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Silent_p.A263A|PSG2_uc010eiq.1_Silent_p.A263A|PSG2_uc002ovs.3_Silent_p.A263A|PSG2_uc002ovt.3_Silent_p.A263A	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	263	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)				GGTTAGAGTTCGCGAAGCAAG	0.443													T	43576027	C	T	43576027	2	4	104	1	0	0	0	0	0	0	0	1	12655	871	31	1		1	PSG2	19	43576027	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	200108	43576027	15552956	6122	72736											
PSG5	5673	broad.mit.edu	37	chr19	43689144	43689144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtaatgtaatggtagaggtCcatcagttgtcctttgtacc	10	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:43689144C>T	uc002ovu.2	-	2	351	c.220G>A	c.(220-222)GAC>AAC	p.D74N	PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Missense_Mutation_p.D2N|PSG5_uc002ovx.2_Missense_Mutation_p.D74N|PSG5_uc002ovv.2_Missense_Mutation_p.D74N|PSG5_uc002ovw.2_Missense_Mutation_p.D74N	NM_002781	NP_002772	Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	74	Ig-like V-type.				female pregnancy	extracellular region				skin(3)	3		Prostate(69;0.00899)				TGGTAGAGGTCCATCAGTTGT	0.433													T	43689144	C	T	43689144	3	4	104	1	0	0	0	0	1	0	0	0	12658	855	30	4	803	4	PSG5	19	43689144	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	113117	43689144	15439839	6123	72737											
PSG4	5672	broad.mit.edu	37	chr19	43699426	43699426	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagggcttggacagctttgCtgtgtggataacagagagaa	15	5	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:43699426C>T	uc002ovy.2	-	4	812	c.710_splice	c.e4-1	p.P237_splice	PSG6_uc010xwk.1_Intron|PSG4_uc002owa.2_Splice_Site|PSG4_uc002owb.2_Splice_Site_p.P144_splice|PSG4_uc002ovz.2_Intron	NM_002780	NP_002771	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4 isoform						defense response|female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)				GACAGCTTTGCTGTGTGGATA	0.468													T	43699426	C	T	43699426	5	4	104	1	0	0	0	0	0	0	1	0	12657	811	28	2	562	2	PSG4	19	43699426	Splice_Site	SNP	C	TCGA-BR-8680-01A-11D-2394-08	10282	43699426	15429557	6124	72738											
ZNF221	7638	broad.mit.edu	37	chr19	44470846	44470846	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaaaccatataattgtaaaGaatgtgggaagaccttcaga	9	5	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:44470846G>T	uc002oxx.2	+	6	1520	c.1192G>T	c.(1192-1194)GAA>TAA	p.E398*	ZNF221_uc010ejb.1_Nonsense_Mutation_p.E398*|ZNF221_uc010xws.1_Nonsense_Mutation_p.E398*	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	398	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Prostate(69;0.0352)				TAATTGTAAAGAATGTGGGAA	0.413													T	44470846	G	T	44470846	4	4	104	1	0	0	0	0	0	1	0	0	17772	943	33	5	1206	5	ZNF221	19	44470846	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	771420	44470846	14658137	6125	72739											
ZNF223	7766	broad.mit.edu	37	chr19	44570416	44570416	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctataatgcacacaggacaGaaaccttccaattgtgggaa	8	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:44570416G>T	uc002oyf.1	+	5	688	c.435G>T	c.(433-435)CAG>CAT	p.Q145H	ZNF284_uc010ejd.2_RNA	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0352)				ACACAGGACAGAAACCTTCCA	0.458													T	44570416	G	T	44570416	3	4	104	1	0	0	0	0	1	0	0	0	17774	933	33	5	449	5	ZNF223	19	44570416	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	99570	44570416	14558567	6126	72740											
ZNF224	7767	broad.mit.edu	37	chr19	44611252	44611252	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccatggttcacacggcagaGaaaccattccgatgtgatac	9	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:44611252G>T	uc002oyh.1	+	6	1241	c.939G>T	c.(937-939)GAG>GAT	p.E313D	uc002oyi.2_RNA	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	313					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				ACACGGCAGAGAAACCATTCC	0.433													T	44611252	G	T	44611252	3	4	104	1	0	0	0	0	1	0	0	0	17775	933	33	5	953	5	ZNF224	19	44611252	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	40836	44611252	14517731	6127	72741											
ZNF225	7768	broad.mit.edu	37	chr19	44636406	44636406	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaatgtgaagagtgtgggAagggcttcaacagtaagttt	13	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:44636406A>C	uc002oyj.1	+	5	1882	c.1639A>C	c.(1639-1641)AAG>CAG	p.K547Q	ZNF225_uc010eje.1_Missense_Mutation_p.K464Q|ZNF225_uc010ejf.1_Missense_Mutation_p.K547Q	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	547	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				AGAGTGTGGGAAGGGCTTCAA	0.438													C	44636406	A	C	44636406	3	2	104	1	0	0	0	0	1	0	0	0	17776	247	9	5	1653	5	ZNF225	19	44636406	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	25154	44636406	14492577	6128	72742											
ZNF226	7769	broad.mit.edu	37	chr19	44681081	44681081	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcagaaggcccacagtataGagaaaccttttaagtgtgag	10	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:44681081G>T	uc002oyp.2	+	6	1810	c.1666G>T	c.(1666-1668)GAG>TAG	p.E556*	ZNF226_uc002oyq.2_Nonsense_Mutation_p.E439*|ZNF226_uc002oyr.2_Nonsense_Mutation_p.E439*|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Nonsense_Mutation_p.E556*|ZNF226_uc002oyt.2_Nonsense_Mutation_p.E556*	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN	zinc finger protein 226 isoform a	556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				CCACAGTATAGAGAAACCTTT	0.453													T	44681081	G	T	44681081	4	4	104	1	0	0	0	0	0	1	0	0	17777	943	33	5	1734	5	ZNF226	19	44681081	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	44675	44681081	14447902	6129	72743											
ZNF226	7769	broad.mit.edu	37	chr19	44681178	44681178	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacgggtgagaaaccatacaAatgtgaagagtgtggcaagg	14	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:44681178A>C	uc002oyp.2	+	6	1907	c.1763A>C	c.(1762-1764)AAA>ACA	p.K588T	ZNF226_uc002oyq.2_Missense_Mutation_p.K471T|ZNF226_uc002oyr.2_Missense_Mutation_p.K471T|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.K588T|ZNF226_uc002oyt.2_Missense_Mutation_p.K588T	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN	zinc finger protein 226 isoform a	588	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				AAACCATACAAATGTGAAGAG	0.443													C	44681178	A	C	44681178	3	2	104	1	0	0	0	0	1	0	0	0	17777	14	1	5	1831	5	ZNF226	19	44681178	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	97	44681178	14447805	6130	72744											
SFRS16	11129	broad.mit.edu	37	chr19	45563839	45563839	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctctcgacgccagcggagaGagtttcgggagaagcggctg	17	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:45563839G>A	uc002pak.2	+	10	915	c.817G>A	c.(817-819)GAG>AAG	p.E273K	SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Missense_Mutation_p.E211K|SFRS16_uc002pam.2_Missense_Mutation_p.E273K|SFRS16_uc002pan.1_RNA	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	splicing factor, arginine/serine-rich 16	273					mRNA processing|RNA splicing	nucleus					0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCAGCGGAGAGAGTTTCGGGA	0.667													A	45563839	G	A	45563839	3	1	104	1	0	0	0	0	1	0	0	0	14172	943	33	4	851	4	SFRS16	19	45563839	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	882661	45563839	13565144	6131	72745											
EXOC3L2	90332	broad.mit.edu	37	chr19	45731000	45731000	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atctcccggactgctgggttCtcatggaatcgctccacacg	10	14	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:45731000C>A	uc002pay.1	-	5	365	c.324G>T	c.(322-324)GAG>GAT	p.E108D		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	108										ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CTGCTGGGTTCTCATGGAATC	0.622													A	45731000	C	A	45731000	3	1	104	1	0	0	0	0	1	0	0	0	5305	912	32	5	929	5	EXOC3L2	19	45731000	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	167161	45731000	13397983	6132	72746											
CKM	1158	broad.mit.edu	37	chr19	45810167	45810167	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtcaaatactgagcccacGgcagctgtgtccacgccacc	9	16	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:45810167G>A	uc002pbd.2	-	8	1061	c.987C>T	c.(985-987)GCC>GCT	p.A329A		NM_001824	NP_001815	P06732	KCRM_HUMAN	muscle creatine kinase	329	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			skin(1)	1		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	CTGAGCCCACGGCAGCTGTGT	0.617													A	45810167	G	A	45810167	2	1	104	1	0	0	0	0	0	0	0	1	3448	1103	39	1		1	CKM	19	45810167	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	79167	45810167	13318816	6133	72747											
ERCC2	2068	broad.mit.edu	37	chr19	45868310	45868310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccagtaacctcatagaatCggcagtggggcaggctggtg	14	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:45868310C>T	uc002pbj.2	-	6	514	c.467G>A	c.(466-468)CGA>CAA	p.R156Q	ERCC2_uc010ejz.2_Intron|ERCC2_uc002pbk.2_Missense_Mutation_p.R132Q|ERCC2_uc002pbl.3_Missense_Mutation_p.R132Q|ERCC2_uc010xxj.1_Intron	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	156	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTCATAGAATCGGCAGTGGGG	0.637			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				T	45868310	C	T	45868310	3	4	104	1	0	0	0	0	1	0	0	0	5213	884	31	1	1944	1	ERCC2	19	45868310	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	58143	45868310	13260673	6134	72748											
RTN2	6253	broad.mit.edu	37	chr19	45998139	45998139	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcccactacaccatcaaaGgcgatgtaggagaaggtcag	12	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:45998139G>T	uc002pcb.2	-	3	432	c.204C>A	c.(202-204)GCC>GCA	p.A68A	RTN2_uc002pcc.2_Silent_p.A68A|RTN2_uc002pcd.2_RNA	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	68						integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CACCATCAAAGGCGATGTAGG	0.677													T	45998139	G	T	45998139	2	4	104	1	0	0	0	0	0	0	0	1	13726	987	35	5		5	RTN2	19	45998139	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	129829	45998139	13130844	6135	72749											
DMPK	1760	broad.mit.edu	37	chr19	46282726	46282726	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcatgtcccacttgtTcatgatcttcatggcataca	6	12	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:46282726T>G	uc002pdd.1	-	2	881	c.337A>C	c.(337-339)AAC>CAC	p.N113H	DMPK_uc010xxs.1_Missense_Mutation_p.N14H|DMPK_uc002pde.1_Missense_Mutation_p.N113H|DMPK_uc002pdf.1_Missense_Mutation_p.N103H|DMPK_uc002pdg.1_Missense_Mutation_p.N103H|DMPK_uc002pdh.1_Missense_Mutation_p.N103H|DMPK_uc002pdi.1_Missense_Mutation_p.N129H|DMPK_uc010xxt.1_Missense_Mutation_p.N103H|DMPK_uc010xxu.1_Missense_Mutation_p.N113H	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	myotonic dystrophy protein kinase isoform 1	113	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)	3		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TCCCACTTGTTCATGATCTTC	0.607													G	46282726	T	G	46282726	3	3	104	1	0	0	0	0	1	0	0	0	4584	1783	62	5	1641	5	DMPK	19	46282726	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	284587	46282726	12846257	6136	72750											
RSPH6A	81492	broad.mit.edu	37	chr19	46308102	46308102	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacctcggccaccaggtagCtgcgtttgattcccaggatc	10	15	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:46308102C>A	uc002pdm.2	-	3	1204	c.1061G>T	c.(1060-1062)AGC>ATC	p.S354I	RSPH6A_uc002pdl.2_Missense_Mutation_p.S90I	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	354						intracellular				ovary(1)|central_nervous_system(1)	2						CACCAGGTAGCTGCGTTTGAT	0.438													A	46308102	C	A	46308102	3	1	104	1	0	0	0	0	1	0	0	0	13707	797	28	5	1108	5	RSPH6A	19	46308102	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	25376	46308102	12820881	6137	72751											
MYPOP	339344	broad.mit.edu	37	chr19	46393881	46393881	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggatcatagatagtagattTcacggagatttccatcggcc	10	8	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:46393881T>C	uc002pdt.2	-	3	1287	c.1200A>G	c.(1198-1200)TGA>TGG	p.*400W		NM_001012643	NP_001012661	Q86VE0	MYPOP_HUMAN	Myb protein P42POP	400						nucleus	DNA binding				0						ATAGTAGATTTCACGGAGATT	0.637													C	46393881	T	C	46393881	4	2	104	1	0	0	0	0	0	0	0	0	10099	1796	62	3	3	3	MYPOP	19	46393881	Nonstop_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	85779	46393881	12735102	6138	72752											
NANOS2	339345	broad.mit.edu	37	chr19	46417834	46417834	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgccccagcggaggcccggGacttggctcctcaatctctt	11	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:46417834G>T	uc002pdu.2	-	1	203	c.118C>A	c.(118-120)CCC>ACC	p.P40T		NM_001029861	NP_001025032	P60321	NANO2_HUMAN	nanos homolog 2	40					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding				0		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		GGAGGCCCGGGACTTGGCTCC	0.657													T	46417834	G	T	46417834	3	4	104	1	0	0	0	0	1	0	0	0	10152	1174	41	5	302	5	NANOS2	19	46417834	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	23953	46417834	12711149	6139	72753											
PNMAL1	55228	broad.mit.edu	37	chr19	46973370	46973370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccttccaggcacatttcGccatgggcttcttcaaagcc	8	15	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:46973370G>A	uc002peq.3	-	2	1229	c.923C>T	c.(922-924)GCG>GTG	p.A308V	PNMAL1_uc002per.3_Missense_Mutation_p.A308V	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	PNMA-like 1 isoform a	308											0		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GGCACATTTCGCCATGGGCTT	0.587													A	46973370	G	A	46973370	3	1	104	1	0	0	0	0	1	0	0	0	12157	1087	38	1	426	1	PNMAL1	19	46973370	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	555536	46973370	12155613	6140	72754											
KPTN	11133	broad.mit.edu	37	chr19	47986471	47986471	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agctccaggttcaggcagctCtctgtaggcagggcacaggc	14	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:47986471C>A	uc002pgy.2	-	4	500	c.396G>T	c.(394-396)CAG>CAT	p.Q132H	KPTN_uc010xys.1_RNA|uc002pgz.1_5'Flank	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	132					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			ovary(1)	1		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		TCAGGCAGCTCTCTGTAGGCA	0.602													A	47986471	C	A	47986471	3	1	104	1	0	0	0	0	1	0	0	0	8437	927	32	5	950	5	KPTN	19	47986471	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1013101	47986471	11142512	6141	72755											
SULT2A1	6822	broad.mit.edu	37	chr19	48386971	48386971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgatcgctcccagatggGcacagattggatccacttgg	14	10	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:48386971G>A	uc002phr.2	-	2	348	c.208C>T	c.(208-210)CCC>TCC	p.P70S		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	bile-salt sulfotransferase 2A1	70					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			ovary(1)|pancreas(1)	2		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		TCCCAGATGGGCACAGATTGG	0.488													A	48386971	G	A	48386971	3	1	104	1	0	0	0	0	1	0	0	0	15378	1203	42	2	669	2	SULT2A1	19	48386971	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	400500	48386971	10742012	6142	72756											
CABP5	56344	broad.mit.edu	37	chr19	48543980	48543980	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacccatctcggtccttatcGaactcaagaaatgcttcccg	6	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:48543980G>A	uc002phu.1	-	3	245	c.120C>T	c.(118-120)TTC>TTT	p.F40F		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	calcium binding protein 5	40	EF-hand 1.				signal transduction	cytoplasm	calcium ion binding			skin(1)	1		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		GGTCCTTATCGAACTCAAGAA	0.493													A	48543980	G	A	48543980	2	1	104	1	0	0	0	0	0	0	0	1	2534	1049	37	1		1	CABP5	19	48543980	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	157009	48543980	10585003	6143	72757											
ZNF114	163071	broad.mit.edu	37	chr19	48789668	48789668	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctccagaaataactcaattCacgccatgcagatgcagttg	7	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:48789668C>A	uc002pil.1	+	6	1284	c.787C>A	c.(787-789)CAC>AAC	p.H263N	ZNF114_uc010elv.1_Missense_Mutation_p.H263N|ZNF114_uc002pim.1_Missense_Mutation_p.H263N|ZNF114_uc002pin.2_Missense_Mutation_p.H229N	NM_153608	NP_705836	Q8NC26	ZN114_HUMAN	zinc finger protein 114	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TAACTCAATTCACGCCATGCA	0.468													A	48789668	C	A	48789668	3	1	104	1	0	0	0	0	1	0	0	0	17713	826	29	5	797	5	ZNF114	19	48789668	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	245688	48789668	10339315	6144	72758											
KCNJ14	3770	broad.mit.edu	37	chr19	48965373	48965373	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgccctgcttctcacacgTggccagcttcctggccgcct	10	19	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:48965373T>C	uc002pje.1	+	2	797	c.392T>C	c.(391-393)GTG>GCG	p.V131A	KCNJ14_uc002pjf.1_Missense_Mutation_p.V131A	NM_013348	NP_037480	Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel J14	131	Extracellular (By similarity).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			skin(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		TTCTCACACGTGGCCAGCTTC	0.721													C	48965373	T	C	48965373	3	2	104	1	0	0	0	0	1	0	0	0	8048	1696	59	3	394	3	KCNJ14	19	48965373	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	175705	48965373	10163610	6145	72759											
KCNJ14	3770	broad.mit.edu	37	chr19	48967513	48967513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggctttgatggaggcaccGatcgtatcttcctcgtgtcc	12	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:48967513G>A	uc002pje.1	+	3	1195	c.790G>A	c.(790-792)GAT>AAT	p.D264N	KCNJ14_uc002pjf.1_Missense_Mutation_p.D264N	NM_013348	NP_037480	Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel J14	264	Cytoplasmic (By similarity).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			skin(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		TGGAGGCACCGATCGTATCTT	0.602													A	48967513	G	A	48967513	3	1	104	1	0	0	0	0	1	0	0	0	8048	1058	37	1	796	1	KCNJ14	19	48967513	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2140	48967513	10161470	6146	72760											
IZUMO1	284359	broad.mit.edu	37	chr19	49245472	49245472	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgaggccctcaccctgtaAaagctgtaatcagtgaggcc	11	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:49245472A>C	uc002pkj.2	-	7	1142	c.594T>G	c.(592-594)TTT>TTG	p.F198L	RASIP1_uc002pki.2_5'Flank|IZUMO1_uc010eme.2_RNA|IZUMO1_uc010emf.2_RNA	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1 precursor	198	Ig-like C2-type.|Extracellular (Potential).				fusion of sperm to egg plasma membrane	integral to membrane				ovary(1)	1		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TCACCCTGTAAAAGCTGTAAT	0.498													C	49245472	A	C	49245472	3	2	104	1	0	0	0	0	1	0	0	0	7933	11	1	5	474	5	IZUMO1	19	49245472	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	277959	49245472	9883511	6147	72761											
PLEKHA4	57664	broad.mit.edu	37	chr19	49364675	49364675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggtgaaggtgaagcgccGccctcggggggctcccggcc	17	15	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:49364675G>A	uc002pkx.2	-	5	900	c.349C>T	c.(349-351)CGG>TGG	p.R117W	PLEKHA4_uc002pkw.1_5'Flank|PLEKHA4_uc010eml.2_Missense_Mutation_p.R117W	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing family A	117	PH.					cytoplasm|membrane	1-phosphatidylinositol binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GTGAAGCGCCGCCCTCGGGGG	0.607													A	49364675	G	A	49364675	3	1	104	1	0	0	0	0	1	0	0	0	12058	1086	38	1	2054	1	PLEKHA4	19	49364675	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	119203	49364675	9764308	6148	72762											
PLEKHA4	57664	broad.mit.edu	37	chr19	49368824	49368824	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccctcctgagcgcattgcctCtcttcccaaaggcgtggatc	9	16	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:49368824C>A	uc002pkx.2	-	3	679	c.128G>T	c.(127-129)AGA>ATA	p.R43I	PLEKHA4_uc010eml.2_Missense_Mutation_p.R43I	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing family A	43						cytoplasm|membrane	1-phosphatidylinositol binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CGCATTGCCTCTCTTCCCAAA	0.572													A	49368824	C	A	49368824	3	1	104	1	0	0	0	0	1	0	0	0	12058	913	32	5	2283	5	PLEKHA4	19	49368824	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4149	49368824	9760159	6149	72763											
TSKS	60385	broad.mit.edu	37	chr19	50251693	50251693	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttcaagctggtgatggagtCtttggcgcggaccaatccac	12	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:50251693C>A	uc002ppm.2	-	3	444	c.433G>T	c.(433-435)GAC>TAC	p.D145Y		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	145							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GTGATGGAGTCTTTGGCGCGG	0.562													A	50251693	C	A	50251693	3	1	104	1	0	0	0	0	1	0	0	0	16623	913	32	5	1381	5	TSKS	19	50251693	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	882869	50251693	8877290	6150	72764											
IL4I1	259307	broad.mit.edu	37	chr19	50399224	50399224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggatcctgcatgcatttctCgaaggggtcttggctgcgtt	13	9	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:50399224C>T	uc002pqt.1	-	3	178	c.100G>A	c.(100-102)GAG>AAG	p.E34K	IL4I1_uc002pqv.1_Missense_Mutation_p.E43K|IL4I1_uc010eno.1_Missense_Mutation_p.E42K|IL4I1_uc002pqw.1_Missense_Mutation_p.E42K|IL4I1_uc002pqu.1_Missense_Mutation_p.E56K	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 1 precursor	34						lysosome	L-amino-acid oxidase activity			lung(1)|ovary(1)|prostate(1)	3		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		ATGCATTTCTCGAAGGGGTCT	0.458													T	50399224	C	T	50399224	3	4	104	1	0	0	0	0	1	0	0	0	7697	893	31	1	1627	1	IL4I1	19	50399224	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	147531	50399224	8729759	6151	72765											
ZNF473	25888	broad.mit.edu	37	chr19	50549532	50549532	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcggctcattcaccatcaaaGaatccactctagagtgaggc	8	12	4	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:50549532G>A	uc002prn.2	+	5	2069	c.1832G>A	c.(1831-1833)AGA>AAA	p.R611K	ZNF473_uc002prm.2_Missense_Mutation_p.R611K|ZNF473_uc010ybo.1_Missense_Mutation_p.R599K	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	611	C2H2-type 12.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CACCATCAAAGAATCCACTCT	0.502													A	50549532	G	A	50549532	3	1	104	1	0	0	0	0	1	0	0	0	17928	942	33	4	1846	4	ZNF473	19	50549532	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	150308	50549532	8579451	6152	72766											
ZNF473	25888	broad.mit.edu	37	chr19	50550117	50550117	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaatctaacacagcaccagaGaattcacacaggggagaagc	9	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:50550117G>T	uc002prn.2	+	5	2654	c.2417G>T	c.(2416-2418)AGA>ATA	p.R806I	ZNF473_uc002prm.2_Missense_Mutation_p.R806I|ZNF473_uc010ybo.1_Missense_Mutation_p.R794I	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	806	C2H2-type 18.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CAGCACCAGAGAATTCACACA	0.502											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	50550117	G	T	50550117	3	4	104	1	0	0	0	0	1	0	0	0	17928	942	33	5	2431	5	ZNF473	19	50550117	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	585	50550117	8578866	6153	72767											
MYH14	79784	broad.mit.edu	37	chr19	50720889	50720889	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagacgtactccggccttttCtgtgtggtcatcaacccgta	9	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:50720889C>T	uc002prr.1	+	3	470	c.423C>T	c.(421-423)TTC>TTT	p.F141F	MYH14_uc010enu.1_Silent_p.F141F|MYH14_uc002prq.1_Silent_p.F141F	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	141	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCGGCCTTTTCTGTGTGGTCA	0.547													T	50720889	C	T	50720889	2	4	104	1	0	0	0	0	0	0	0	1	10033	912	32	4		4	MYH14	19	50720889	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	170772	50720889	8408094	6154	72768											
SPIB	6689	broad.mit.edu	37	chr19	50926154	50926154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcgacccggcagcagccGcttttagccacccccaggct	9	19	0	0	rs141734267		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:50926154G>A	uc002psd.2	+	4	224	c.199G>A	c.(199-201)GCT>ACT	p.A67T	SPIB_uc002pse.2_Missense_Mutation_p.A67T|SPIB_uc010ycc.1_Intron	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	67					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			lung(1)|kidney(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GGCAGCAGCCGCTTTTAGCCA	0.682													A	50926154	G	A	50926154	3	1	104	1	0	0	0	0	1	0	0	0	15049	1087	38	1	213	1	SPIB	19	50926154	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	205265	50926154	8202829	6155	72769											
MYBPC2	4606	broad.mit.edu	37	chr19	50951486	50951486	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctctccctgaccagagaaAcagctggaggtcctgcagga	11	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:50951486A>G	uc002psf.2	+	13	1362	c.1311A>G	c.(1309-1311)AAA>AAG	p.K437K		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	437	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GACCAGAGAAACAGCTGGAGG	0.383													G	50951486	A	G	50951486	2	3	104	1	0	0	0	0	0	0	0	1	10012	40	2	3		3	MYBPC2	19	50951486	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	25332	50951486	8177497	6156	72770											
LRRC4B	94030	broad.mit.edu	37	chr19	51022417	51022417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcccaggtccaggcgccGcagcgagggcacgcggttga	16	15	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:51022417G>A	uc002pss.2	-	3	690	c.553C>T	c.(553-555)CGG>TGG	p.R185W		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	185	LRR 5.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TCCAGGCGCCGCAGCGAGGGC	0.652													A	51022417	G	A	51022417	3	1	104	1	0	0	0	0	1	0	0	0	9007	1086	38	1	1592	1	LRRC4B	19	51022417	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	70931	51022417	8106566	6157	72771											
LRRC4B	94030	broad.mit.edu	37	chr19	51051822	51051822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgccgttctcttgcaggtTcaggtaccgcgtgttgaccg	13	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:51051822T>C	uc002pss.2	-	2	411	c.274A>G	c.(274-276)AAC>GAC	p.N92D		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	92	LRR 1.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TCTTGCAGGTTCAGGTACCGC	0.657													C	51051822	T	C	51051822	3	2	104	1	0	0	0	0	1	0	0	0	9007	1783	62	3	1875	3	LRRC4B	19	51051822	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	29405	51051822	8077161	6158	72772											
KLK3	354	broad.mit.edu	37	chr19	51361284	51361284	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgtctgcttcctccccaGcaaaagcgtgatcttgctgg	10	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:51361284G>A	uc002pts.1	+	3	248	c.207_splice	c.e3-1	p.N69_splice	KLK3_uc010ycj.1_Splice_Site_p.N69_splice|KLK3_uc002ptr.1_Intron|KLK3_uc010eof.1_Splice_Site	NM_001030047	NP_001025218	P07288	KLK3_HUMAN	prostate specific antigen isoform 3						negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		TTCCTCCCCAGCAAAAGCGTG	0.532													A	51361284	G	A	51361284	5	1	104	1	0	0	0	0	0	0	1	0	8405	985	34	2	220	2	KLK3	19	51361284	Splice_Site	SNP	G	TCGA-BR-8680-01A-11D-2394-08	309462	51361284	7767699	6159	72773											
SIGLEC7	27036	broad.mit.edu	37	chr19	51647913	51647913	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctggggccggcgtgaccacGaacaggaccatccaactcaa	11	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:51647913G>A	uc002pvv.1	+	2	753	c.684G>A	c.(682-684)ACG>ACA	p.T228T	SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7 isoform 1	228	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			large_intestine(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GCGTGACCACGAACAGGACCA	0.657													A	51647913	G	A	51647913	2	1	104	1	0	0	0	0	0	0	0	1	14313	1045	37	1		1	SIGLEC7	19	51647913	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	286629	51647913	7481070	6160	72774											
SIGLEC10	89790	broad.mit.edu	37	chr19	51919253	51919253	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaccccgggcagctccAgccccaggggtctagggccc	12	19	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:51919253A>C	uc002pwo.2	-	5	1539	c.923T>G	c.(922-924)CTG>CGG	p.L308R	SIGLEC10_uc002pwp.2_Missense_Mutation_p.L250R|SIGLEC10_uc002pwq.2_Missense_Mutation_p.L250R|SIGLEC10_uc002pwr.2_Missense_Mutation_p.L308R|SIGLEC10_uc010ycy.1_Intron|SIGLEC10_uc010ycz.1_Missense_Mutation_p.L260R|SIGLEC10_uc010eow.2_Missense_Mutation_p.L120R|SIGLEC10_uc002pws.1_Intron	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	308	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGGCAGCTCCAGCCCCAGGGG	0.672													C	51919253	A	C	51919253	3	2	104	1	0	0	0	0	1	0	0	0	14306	188	7	5	1198	5	SIGLEC10	19	51919253	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	271340	51919253	7209730	6161	72775											
SIGLEC12	89858	broad.mit.edu	37	chr19	52000207	52000207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcccactgctggccttgccGatttcttcctgcaggacctc	9	17	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:52000207G>A	uc002pwx.1	-	7	1582	c.1526C>T	c.(1525-1527)TCG>TTG	p.S509L	SIGLEC12_uc002pww.1_Missense_Mutation_p.S391L|SIGLEC12_uc010eoy.1_Missense_Mutation_p.S236L	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	509	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGGCCTTGCCGATTTCTTCCT	0.582													A	52000207	G	A	52000207	3	1	104	1	0	0	0	0	1	0	0	0	14308	1059	37	1	269	1	SIGLEC12	19	52000207	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	80954	52000207	7128776	6162	72776											
SIGLEC5	8778	broad.mit.edu	37	chr19	52130481	52130481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggctgcaggaaccactcCtgtcccgaggttcgatctcc	11	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:52130481C>T	uc002pxe.2	-	7	1442	c.1303G>A	c.(1303-1305)GGA>AGA	p.G435R		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	435	Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GGAACCACTCCTGTCCCGAGG	0.547													T	52130481	C	T	52130481	3	4	104	1	0	0	0	0	1	0	0	0	14311	690	24	4	364	4	SIGLEC5	19	52130481	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	130274	52130481	6998502	6163	72777											
FPR1	2357	broad.mit.edu	37	chr19	52249296	52249296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggccctctccagactggCgggaagggcgtggatcagcc	16	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:52249296C>T	uc002pxq.2	-	2	1047	c.952G>A	c.(952-954)GCC>ACC	p.A318T		NM_002029	NP_002020	P21462	FPR1_HUMAN	formyl peptide receptor 1	318	Cytoplasmic (Potential).				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			ovary(1)|lung(1)|skin(1)	3		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	TCCAGACTGGCGGGAAGGGCG	0.562													T	52249296	C	T	52249296	3	4	104	1	0	0	0	0	1	0	0	0	6038	768	27	1	104	1	FPR1	19	52249296	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	118815	52249296	6879687	6164	72778											
FPR1	2357	broad.mit.edu	37	chr19	52250104	52250104	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atccggaatccagccacccaGatcacaagcccgttgcccag	8	17	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:52250104G>A	uc002pxq.2	-	2	239	c.144C>T	c.(142-144)ATC>ATT	p.I48I		NM_002029	NP_002020	P21462	FPR1_HUMAN	formyl peptide receptor 1	48	Helical; Name=1; (Potential).				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			ovary(1)|lung(1)|skin(1)	3		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CAGCCACCCAGATCACAAGCC	0.522													A	52250104	G	A	52250104	2	1	104	1	0	0	0	0	0	0	0	1	6038	932	33	4		4	FPR1	19	52250104	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	808	52250104	6878879	6165	72779											
ZNF577	84765	broad.mit.edu	37	chr19	52376895	52376895	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcttgatatggaggcatgaTctcccatatccaccaaatgc	8	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:52376895T>C	uc010yde.1	-	7	739	c.348A>G	c.(346-348)AGA>AGG	p.R116R	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Intron|ZNF577_uc002pxv.2_Silent_p.R109R|ZNF577_uc002pxw.2_Intron	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	zinc finger protein 577 isoform a	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GGAGGCATGATCTCCCATATC	0.388													C	52376895	T	C	52376895	2	2	104	1	0	0	0	0	0	0	0	1	18006	1432	50	3		3	ZNF577	19	52376895	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	126791	52376895	6752088	6166	72780											
ZNF613	79898	broad.mit.edu	37	chr19	52447723	52447723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaattcattaagcatcagcGaactcaaaacatagataaac	4	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:52447723G>A	uc002pxz.1	+	6	1010	c.587G>A	c.(586-588)CGA>CAA	p.R196Q	ZNF613_uc002pya.1_Missense_Mutation_p.R160Q	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAGCATCAGCGAACTCAAAAC	0.418													A	52447723	G	A	52447723	3	1	104	1	0	0	0	0	1	0	0	0	18035	1058	37	1	601	1	ZNF613	19	52447723	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	70828	52447723	6681260	6167	72781											
ZNF432	9668	broad.mit.edu	37	chr19	52537131	52537131	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtgaagcctttaccacattCattacatccataaggttttt	5	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:52537131C>A	uc002pyk.2	-	5	2119	c.1801G>T	c.(1801-1803)GAA>TAA	p.E601*		NM_014650	NP_055465	O94892	ZN432_HUMAN	zinc finger protein 432	601	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|pancreas(1)	3		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TTACCACATTCATTACATCCA	0.388													A	52537131	C	A	52537131	4	1	104	1	0	0	0	0	0	1	0	0	17903	835	29	5	161	5	ZNF432	19	52537131	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	89408	52537131	6591852	6168	72782											
ZNF616	90317	broad.mit.edu	37	chr19	52618189	52618189	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actcattacatttataaggtTttttgccagaatgaattctt	5	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:52618189T>G	uc002pym.2	-	4	2511	c.2228A>C	c.(2227-2229)AAA>ACA	p.K743T	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	743					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTTATAAGGTTTTTTGCCAGA	0.393													G	52618189	T	G	52618189	3	3	104	1	0	0	0	0	1	0	0	0	18038	1841	64	5	121	5	ZNF616	19	52618189	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	81058	52618189	6510794	6169	72783											
ZNF616	90317	broad.mit.edu	37	chr19	52619990	52619990	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agccagacgtgactcaaagtTtgatgtaagctggttttcaa	10	7	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:52619990T>G	uc002pym.2	-	4	710	c.427A>C	c.(427-429)AAC>CAC	p.N143H	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GACTCAAAGTTTGATGTAAGC	0.383													G	52619990	T	G	52619990	3	3	104	1	0	0	0	0	1	0	0	0	18038	1841	64	5	1922	5	ZNF616	19	52619990	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1801	52619990	6508993	6170	72784											
PPP2R1A	5518	broad.mit.edu	37	chr19	52716217	52716217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctccctaggactcggtgCggctgctggcggtggaggcg	17	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:52716217C>T	uc002pyp.2	+	6	820	c.661C>T	c.(661-663)CGG>TGG	p.R221W	PPP2R1A_uc010ydk.1_Missense_Mutation_p.R166W|PPP2R1A_uc010epm.1_Missense_Mutation_p.R261W|PPP2R1A_uc002pyq.2_Missense_Mutation_p.R42W	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	221	PP2A subunit B binding.|SV40 small T antigen binding.|HEAT 6.|Polyoma small and medium T antigens Binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GGACTCGGTGCGGCTGCTGGC	0.642			Mis		clear cell ovarian carcinoma								T	52716217	C	T	52716217	3	4	104	1	0	0	0	0	1	0	0	0	12382	759	27	1	683	1	PPP2R1A	19	52716217	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	96227	52716217	6412766	6171	72785											
ZNF766	90321	broad.mit.edu	37	chr19	52785394	52785394	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cattcagggacgtggccataGaattctctcaggaggagtgg	14	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:52785394G>T	uc002pyr.1	+	2	92	c.49G>T	c.(49-51)GAA>TAA	p.E17*	ZNF766_uc002pys.1_Nonsense_Mutation_p.E17*|ZNF766_uc002pyt.1_Nonsense_Mutation_p.E32*	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN	zinc finger protein 766	17	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		CGTGGCCATAGAATTCTCTCA	0.453													T	52785394	G	T	52785394	4	4	104	1	0	0	0	0	0	1	0	0	18137	943	33	5	55	5	ZNF766	19	52785394	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	69177	52785394	6343589	6172	72786											
ZNF480	147657	broad.mit.edu	37	chr19	52825331	52825331	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaattcaaactttgcacgAcatcaaagaattcataccag	4	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:52825331A>G	uc010ydl.1	+	5	898	c.828A>G	c.(826-828)CGA>CGG	p.R276R	ZNF480_uc002pyv.2_Silent_p.R199R|ZNF480_uc010ydm.1_Silent_p.R233R|ZNF480_uc010epn.2_Silent_p.R107R|uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	276	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		ACTTTGCACGACATCAAAGAA	0.353													G	52825331	A	G	52825331	2	3	104	1	0	0	0	0	0	0	0	1	17932	262	10	3		3	ZNF480	19	52825331	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	39937	52825331	6303652	6173	72787											
ZNF610	162963	broad.mit.edu	37	chr19	52856965	52856965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattcatggacgtggccatcGaattctctcaggaggagtgg	13	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:52856965G>A	uc002pyx.3	+	4	500	c.94G>A	c.(94-96)GAA>AAA	p.E32K	ZNF610_uc002pyy.3_Missense_Mutation_p.E32K|ZNF610_uc002pyz.3_Missense_Mutation_p.E32K|ZNF610_uc002pza.2_Missense_Mutation_p.E32K	NM_001161426	NP_001154898	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610 isoform a	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		CGTGGCCATCGAATTCTCTCA	0.438													A	52856965	G	A	52856965	3	1	104	1	0	0	0	0	1	0	0	0	18033	1059	37	1	100	1	ZNF610	19	52856965	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	31634	52856965	6272018	6174	72788											
ZNF578	147660	broad.mit.edu	37	chr19	53013860	53013860	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatgatgaaggaggtcttgTcaacagggcaaggcaataca	13	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:53013860T>C	uc002pzp.3	+	6	470	c.226T>C	c.(226-228)TCA>CCA	p.S76P		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	Error:Variant_position_missing_in_Q96N58_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GGAGGTCTTGTCAACAGGGCA	0.383													C	53013860	T	C	53013860	3	2	104	1	0	0	0	0	1	0	0	0	18007	1667	58	3	236	3	ZNF578	19	53013860	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	156895	53013860	6115123	6175	72789											
ZNF578	147660	broad.mit.edu	37	chr19	53014974	53014974	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagccttgcacgtcatcataGacttcatactggagagaaat	8	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:53014974G>C	uc002pzp.3	+	6	1584	c.1340G>C	c.(1339-1341)AGA>ACA	p.R447T		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	222	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CGTCATCATAGACTTCATACT	0.383													C	53014974	G	C	53014974	3	2	104	1	0	0	0	0	1	0	0	0	18007	942	33	5	1350	5	ZNF578	19	53014974	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1114	53014974	6114009	6176	72790											
ZNF701	55762	broad.mit.edu	37	chr19	53086082	53086082	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggactttcatcagaagcgatAccttgcatgccatagatgtc	9	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:53086082A>C	uc002pzs.1	+	4	897	c.770A>C	c.(769-771)TAC>TCC	p.Y257S	ZNF701_uc010ydn.1_Missense_Mutation_p.Y323S	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	zinc finger protein 701	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		CAGAAGCGATACCTTGCATGC	0.403													C	53086082	A	C	53086082	3	2	104	1	0	0	0	0	1	0	0	0	18102	391	14	5	982	5	ZNF701	19	53086082	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	71108	53086082	6042901	6177	72791											
ZNF701	55762	broad.mit.edu	37	chr19	53086702	53086702	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atagacttcatactggaaagAaatcttagaagtgtaaattt	7	4	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:53086702A>C	uc002pzs.1	+	4	1517	c.1390A>C	c.(1390-1392)AAA>CAA	p.K464Q	ZNF701_uc010ydn.1_Missense_Mutation_p.K530Q	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	zinc finger protein 701	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TACTGGAAAGAAATCTTAGAA	0.348													C	53086702	A	C	53086702	3	2	104	1	0	0	0	0	1	0	0	0	18102	247	9	5	1602	5	ZNF701	19	53086702	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	620	53086702	6042281	6178	72792											
ZNF816A	125893	broad.mit.edu	37	chr19	53453915	53453915	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcttgccacactcattAcacttgtaaggtttctctcc	6	12	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:53453915A>G	uc002qal.1	-	5	1414	c.1113T>C	c.(1111-1113)TGT>TGC	p.C371C	ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Silent_p.C355C	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN	zinc finger protein 816A	371	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0313)		CACACTCATTACACTTGTAAG	0.393													G	53453915	A	G	53453915	2	3	104	1	0	0	0	0	0	0	0	1	18174	389	14	3		3	ZNF816A	19	53453915	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	367213	53453915	5675068	6179	72793											
ZNF816A	125893	broad.mit.edu	37	chr19	53454606	53454606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcatgcctgtgatcacttCggtctgtactaccagtcaac	8	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:53454606C>T	uc002qal.1	-	5	723	c.422G>A	c.(421-423)CGA>CAA	p.R141Q	ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.R125Q	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN	zinc finger protein 816A	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0313)		GTGATCACTTCGGTCTGTACT	0.408													T	53454606	C	T	53454606	3	4	104	1	0	0	0	0	1	0	0	0	18174	884	31	1	1537	1	ZNF816A	19	53454606	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	691	53454606	5674377	6180	72794											
ZNF347	84671	broad.mit.edu	37	chr19	53644231	53644231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttctctccagtatgaattCgctgatgccttgaaaggtat	9	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:53644231C>T	uc002qbb.1	-	5	1919	c.1850G>A	c.(1849-1851)CGA>CAA	p.R617Q	ZNF347_uc010eql.1_Missense_Mutation_p.R618Q|ZNF347_uc002qbc.1_Missense_Mutation_p.R618Q	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	617	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		AGTATGAATTCGCTGATGCCT	0.393													T	53644231	C	T	53644231	3	4	104	1	0	0	0	0	1	0	0	0	17858	884	31	1	673	1	ZNF347	19	53644231	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	189625	53644231	5484752	6181	72795											
ZNF347	84671	broad.mit.edu	37	chr19	53645327	53645327	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccaattatttgctttttGcccctgtgtgagtaataaag	7	9	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:53645327G>A	uc002qbb.1	-	5	823	c.754C>T	c.(754-756)CAA>TAA	p.Q252*	ZNF347_uc010eql.1_Nonsense_Mutation_p.Q253*|ZNF347_uc002qbc.1_Nonsense_Mutation_p.Q253*	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		TTTGCTTTTTGCCCCTGTGTG	0.368													A	53645327	G	A	53645327	4	1	104	1	0	0	0	0	0	1	0	0	17858	1328	46	2	1769	2	ZNF347	19	53645327	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1096	53645327	5483656	6182	72796											
ZNF665	79788	broad.mit.edu	37	chr19	53668755	53668755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgggtagtcaggcttgagcGaacactaaaggctttgccac	12	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:53668755G>A	uc010eqm.1	-	4	1088	c.988C>T	c.(988-990)CGC>TGC	p.R330C		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	265	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		AGGCTTGAGCGAACACTAAAG	0.428													A	53668755	G	A	53668755	3	1	104	1	0	0	0	0	1	0	0	0	18070	1058	37	1	1052	1	ZNF665	19	53668755	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	23428	53668755	5460228	6183	72797											
ZNF665	79788	broad.mit.edu	37	chr19	53668977	53668977	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtaaggtttctctccagtatGaattctctgatgacctgcaa	8	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:53668977G>T	uc010eqm.1	-	4	866	c.766C>A	c.(766-768)CAT>AAT	p.H256N		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	191	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		TCTCCAGTATGAATTCTCTGA	0.398													T	53668977	G	T	53668977	3	4	104	1	0	0	0	0	1	0	0	0	18070	1290	45	5	1274	5	ZNF665	19	53668977	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	222	53668977	5460006	6184	72798											
VN1R2	317701	broad.mit.edu	37	chr19	53762651	53762651	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacgtttatttagctctcttCgataattccagttggtggct	8	8	1	0	rs151062632	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:53762651C>T	uc002qbi.2	+	1	1107	c.1023C>T	c.(1021-1023)TTC>TTT	p.F341F		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	341	Extracellular (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0				GBM - Glioblastoma multiforme(134;0.00301)		TAGCTCTCTTCGATAATTCCA	0.463													T	53762651	C	T	53762651	2	4	104	1	0	0	0	0	0	0	0	1	17176	883	31	1		1	VN1R2	19	53762651	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	93674	53762651	5366332	6185	72799											
BIRC8	112401	broad.mit.edu	37	chr19	53793036	53793036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaggaataaaaacaacagCgatatgtctgtccatgcaga	8	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:53793036C>T	uc002qbk.2	-	1	1840	c.592G>A	c.(592-594)GCT>ACT	p.A198T		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat-containing 8	198	RING-type.				apoptosis		zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(134;0.00304)		AAAACAACAGCGATATGTCTG	0.443													T	53793036	C	T	53793036	3	4	104	1	0	0	0	0	1	0	0	0	1440	768	27	1	122	1	BIRC8	19	53793036	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	30385	53793036	5335947	6186	72800											
ZNF761	388561	broad.mit.edu	37	chr19	53958094	53958094	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaaatggccatgaagcAcccatgacaaaaatcaaaaa	7	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:53958094A>G	uc010eqp.2	+	7	791	c.333A>G	c.(331-333)GCA>GCG	p.A111A	ZNF761_uc010ydy.1_Silent_p.A57A|ZNF761_uc002qbt.1_Silent_p.A57A	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		GCCATGAAGCACCCATGACAA	0.353													G	53958094	A	G	53958094	2	3	104	1	0	0	0	0	0	0	0	1	18133	146	6	3		3	ZNF761	19	53958094	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	165058	53958094	5170889	6187	72801											
ZNF813	126017	broad.mit.edu	37	chr19	53994839	53994839	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagacgttcagtcgaaaTtcagcccttgtaattcataa	7	9	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:53994839T>G	uc002qbu.2	+	4	1481	c.1353T>G	c.(1351-1353)AAT>AAG	p.N451K	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	451	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TCAGTCGAAATTCAGCCCTTG	0.403													G	53994839	T	G	53994839	3	3	104	1	0	0	0	0	1	0	0	0	18172	1490	52	5	1363	5	ZNF813	19	53994839	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	36745	53994839	5134144	6188	72802											
CACNG7	59284	broad.mit.edu	37	chr19	54444771	54444771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttacatctccagcatcaacGacgaggtcatgaacaggccc	8	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:54444771G>A	uc002qcr.1	+	4	487	c.472G>A	c.(472-474)GAC>AAC	p.D158N	CACNG7_uc010era.1_Missense_Mutation_p.D158N	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	158					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CAGCATCAACGACGAGGTCAT	0.552													A	54444771	G	A	54444771	3	1	104	1	0	0	0	0	1	0	0	0	2562	1058	37	1	486	1	CACNG7	19	54444771	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	449932	54444771	4684212	6189	72803											
LILRA6	79168	broad.mit.edu	37	chr19	54744915	54744915	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaacaaatctgtcgtagccGacatcagagccacactggag	10	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:54744915G>A	uc002qeu.1	-	5	871	c.747C>T	c.(745-747)GTC>GTT	p.V249V	LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Silent_p.V249V|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Silent_p.V249V|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.V249V|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Silent_p.V249V|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Silent_p.V249V|LILRA6_uc010yeq.1_Silent_p.V249V|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Silent_p.V110V	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor,	249	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane	receptor activity			skin(2)	2	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCGTAGCCGACATCAGAGC	0.642													A	54744915	G	A	54744915	2	1	104	1	0	0	0	0	0	0	0	1	8789	1045	37	1		1	LILRA6	19	54744915	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	300144	54744915	4384068	6190	72804											
LILRB5	10990	broad.mit.edu	37	chr19	54759153	54759153	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgctgggctcctcacctgcGatcaggatgtccagggggtc	14	14	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:54759153G>A	uc002qex.2	-	5	1059	c.948C>T	c.(946-948)ATC>ATT	p.I316I	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Silent_p.I307I|LILRB5_uc002qey.2_Silent_p.I316I|LILRB5_uc002qez.2_Silent_p.I216I|LILRB5_uc002qfa.1_Silent_p.I206I|LILRB5_uc010yes.1_RNA	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	316	Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTCACCTGCGATCAGGATGT	0.682													A	54759153	G	A	54759153	2	1	104	1	0	0	0	0	0	0	0	1	8794	1048	37	1		1	LILRB5	19	54759153	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	14238	54759153	4369830	6191	72805											
LILRB5	10990	broad.mit.edu	37	chr19	54760832	54760832	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacagactcacctgcctgcAcgcaggtcctggggcccaca	12	16	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:54760832A>G	uc002qex.2	-	2	173	c.62T>C	c.(61-63)GTG>GCG	p.V21A	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.V21A|LILRB5_uc002qey.2_Missense_Mutation_p.V21A|LILRB5_uc002qez.2_Missense_Mutation_p.V21A|LILRB5_uc002qfa.1_5'UTR|LILRB5_uc010yes.1_RNA	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	21					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACCTGCCTGCACGCAGGTCCT	0.647													G	54760832	A	G	54760832	3	3	104	1	0	0	0	0	1	0	0	0	8794	159	6	3	1761	3	LILRB5	19	54760832	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1679	54760832	4368151	6192	72806											
LILRB2	10288	broad.mit.edu	37	chr19	54782124	54782124	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcccccacctgagaccacGagctccaggggctcactggg	13	16	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:54782124G>A	uc002qfb.2	-	7	1514	c.1248C>T	c.(1246-1248)CTC>CTT	p.L416L	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.L416L|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.L416L|LILRB2_uc010yet.1_Silent_p.L300L|LILRB2_uc010yeu.1_RNA	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	416	Extracellular (Potential).|Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			skin(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGAGACCACGAGCTCCAGGG	0.652													A	54782124	G	A	54782124	2	1	104	1	0	0	0	0	0	0	0	1	8791	1045	37	1		1	LILRB2	19	54782124	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	21292	54782124	4346859	6193	72807											
LENG8	114823	broad.mit.edu	37	chr19	54962550	54962550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacgtgggtgatcaacgtaGcacagattggttagtgaggc	14	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:54962550G>A	uc002qfv.1	+	2	173	c.29G>A	c.(28-30)AGC>AAC	p.S10N	LENG8_uc002qfw.2_Missense_Mutation_p.S10N			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	10							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GATCAACGTAGCACAGATTGG	0.582													A	54962550	G	A	54962550	3	1	104	1	0	0	0	0	1	0	0	0	8724	971	34	2	31	2	LENG8	19	54962550	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	180426	54962550	4166433	6194	72808											
LILRB1	10859	broad.mit.edu	37	chr19	55146726	55146726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaggtccagcccagctgccGatgcccaggaagaaaacctc	10	16	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:55146726G>A	uc002qgj.2	+	13	1916	c.1576G>A	c.(1576-1578)GAT>AAT	p.D526N	LILRB1_uc010erp.1_Missense_Mutation_p.D141N|LILRB1_uc002qgl.2_Missense_Mutation_p.D526N|LILRB1_uc002qgk.2_Missense_Mutation_p.D527N|LILRB1_uc002qgm.2_Missense_Mutation_p.D527N|LILRB1_uc010erq.2_Missense_Mutation_p.D510N|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	526	Cytoplasmic (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		CCCAGCTGCCGATGCCCAGGA	0.607										HNSCC(37;0.09)			A	55146726	G	A	55146726	3	1	104	1	0	0	0	0	1	0	0	0	8790	1058	37	1	1621	1	LILRB1	19	55146726	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	184176	55146726	3982257	6195	72809											
LILRB4	11006	broad.mit.edu	37	chr19	55176585	55176585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgttctaacccagcaggCcctgaggaccagcccctcat	8	18	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:55176585C>T	uc002qgp.2	+	6	1073	c.711C>T	c.(709-711)GGC>GGT	p.G237G	LILRB4_uc002qgq.2_Silent_p.G237G|LILRB4_uc010ers.1_3'UTR|LILRB4_uc002qgr.2_Silent_p.G278G|LILRB4_uc010ert.2_Silent_p.G278G|LILRB4_uc010eru.2_Silent_p.G266G	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor,	237	Extracellular (Potential).					integral to membrane|plasma membrane	antigen binding|receptor activity			ovary(3)	3				GBM - Glioblastoma multiforme(193;0.035)		ACCCAGCAGGCCCTGAGGACC	0.488													T	55176585	C	T	55176585	2	4	104	1	0	0	0	0	0	0	0	1	8793	726	26	2		2	LILRB4	19	55176585	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	29859	55176585	3952398	6196	72810											
KIR3DL1	3811	broad.mit.edu	37	chr19	55331352	55331352	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggggtctccaaggccaatttCtccatcggtcccatgatgct	10	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:55331352C>A	uc002qhk.3	+	4	603	c.540C>A	c.(538-540)TTC>TTA	p.F180L	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.F122L|KIR3DL1_uc010esf.2_Missense_Mutation_p.F85L|KIR3DL1_uc010yfo.1_Missense_Mutation_p.F122L|KIR3DL1_uc002qhl.3_Missense_Mutation_p.F180L	NM_013289	NP_037421	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three	180	Extracellular (Potential).|Ig-like C2-type 2.				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5				GBM - Glioblastoma multiforme(193;0.0192)		AGGCCAATTTCTCCATCGGTC	0.527													A	55331352	C	A	55331352	3	1	104	1	0	0	0	0	1	0	0	0	8320	912	32	5	554	5	KIR3DL1	19	55331352	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	154767	55331352	3797631	6197	72811											
KIR3DL1	3811	broad.mit.edu	37	chr19	55341405	55341405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgtaatggaccaagaGcctgcagggaacagaacagc	13	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:55341405G>A	uc002qhk.3	+	8	1191	c.1128G>A	c.(1126-1128)GAG>GAA	p.E376E	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Silent_p.E301E|KIR3DL1_uc010esf.2_Silent_p.E281E|KIR3DL1_uc010yfo.1_Silent_p.E318E|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_5'Flank|KIR2DS4_uc002qhm.1_5'Flank	NM_013289	NP_037421	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three	376	Cytoplasmic (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5				GBM - Glioblastoma multiforme(193;0.0192)		TGGACCAAGAGCCTGCAGGGA	0.527													A	55341405	G	A	55341405	2	1	104	1	0	0	0	0	0	0	0	1	8320	962	34	2		2	KIR3DL1	19	55341405	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	10053	55341405	3787578	6198	72812											
PPP1R12C	54776	broad.mit.edu	37	chr19	55607700	55607700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaagcttctttttggttccGaagctgcaaggagggaaggg	16	6	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:55607700G>A	uc002qix.2	-	7	971	c.955C>T	c.(955-957)CGG>TGG	p.R319W	PPP1R12C_uc010yfs.1_Missense_Mutation_p.R245W|PPP1R12C_uc002qiy.2_Missense_Mutation_p.R319W	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	319	Potential.					cytoplasm				ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TTTTGGTTCCGAAGCTGCAAG	0.637													A	55607700	G	A	55607700	3	1	104	1	0	0	0	0	1	0	0	0	12356	1057	37	1	1457	1	PPP1R12C	19	55607700	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	266295	55607700	3521283	6199	72813											
TNNT1	7138	broad.mit.edu	37	chr19	55652593	55652593	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accagctcctcttcctccttCttccgctgctcgaaatgtac	5	17	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:55652593C>A	uc002qjb.3	-	8	359	c.270G>T	c.(268-270)AAG>AAT	p.K90N	TNNT1_uc002qiz.3_Missense_Mutation_p.K20N|TNNT1_uc002qja.3_Missense_Mutation_p.K20N|TNNT1_uc002qjc.3_Missense_Mutation_p.K90N|TNNT1_uc002qje.3_Missense_Mutation_p.K79N|TNNT1_uc002qjd.3_Missense_Mutation_p.K79N|TNNT1_uc002qjf.2_Missense_Mutation_p.K86N	NM_003283	NP_003274	P13805	TNNT1_HUMAN	troponin T1, skeletal, slow isoform a	90					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CTTCCTCCTTCTTCCGCTGCT	0.592											OREG0025677	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	55652593	C	A	55652593	3	1	104	1	0	0	0	0	1	0	0	0	16327	912	32	5	594	5	TNNT1	19	55652593	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	44893	55652593	3476390	6200	72814											
SYT5	6861	broad.mit.edu	37	chr19	55686654	55686654	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcattgcgagagaagcggtcGaagtcgtacaccgccatgac	12	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:55686654G>A	uc002qjm.1	-	5	1654	c.594C>T	c.(592-594)TTC>TTT	p.F198F	SYT5_uc002qjp.2_Silent_p.F195F|SYT5_uc002qjn.1_Silent_p.F198F|SYT5_uc002qjo.1_Silent_p.F198F	NM_003180	NP_003171	O00445	SYT5_HUMAN	synaptotagmin V	198	Cytoplasmic (Potential).|C2 1.	Calcium 1; via carbonyl oxygen (By similarity).			energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		AGAAGCGGTCGAAGTCGTACA	0.652													A	55686654	G	A	55686654	2	1	104	1	0	0	0	0	0	0	0	1	15474	1049	37	1		1	SYT5	19	55686654	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	34061	55686654	3442329	6201	72815											
BRSK1	84446	broad.mit.edu	37	chr19	55805594	55805594	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccctcaggtccccccattaTgcgtgtccagaggtgattaa	9	13	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:55805594T>G	uc002qkg.2	+	6	865	c.588T>G	c.(586-588)TAT>TAG	p.Y196*	BRSK1_uc002qkf.2_Nonsense_Mutation_p.Y212*	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	196	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCCCCCATTATGCGTGTCCAG	0.617													G	55805594	T	G	55805594	4	3	104	1	0	0	0	0	0	1	0	0	1523	1471	51	5	610	5	BRSK1	19	55805594	Nonsense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	118940	55805594	3323389	6202	72816											
TMEM150B	284417	broad.mit.edu	37	chr19	55828275	55828275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcagccagaagtagacGttacccaagatgaaggcaag	12	9	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:55828275G>A	uc010esw.1	-	7	557	c.384C>T	c.(382-384)AAC>AAT	p.N128N	TMEM150B_uc010yfu.1_Silent_p.N128N|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	transmembrane protein 150B precursor	128	Helical; (Potential).					integral to membrane					0						AGAAGTAGACGTTACCCAAGA	0.632													A	55828275	G	A	55828275	2	1	104	1	0	0	0	0	0	0	0	1	16065	1136	40	1		1	TMEM150B	19	55828275	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	22681	55828275	3300708	6203	72817											
NLRP9	338321	broad.mit.edu	37	chr19	56244828	56244828	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttttcatggtttctttgtaGaaatgctcagggacgtgaag	11	5	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:56244828G>T	uc002qly.2	-	2	397	c.369C>A	c.(367-369)TTC>TTA	p.F123L		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	123						cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTTCTTTGTAGAAATGCTCAG	0.408													T	56244828	G	T	56244828	3	4	104	1	0	0	0	0	1	0	0	0	10484	933	33	5	2638	5	NLRP9	19	56244828	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	416553	56244828	2884155	6204	72818											
NLRP11	204801	broad.mit.edu	37	chr19	56321612	56321612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacatctgacgaaacgtcacGaaaaaatttataatgaaatt	5	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:56321612G>A	uc010ygf.1	-	5	1075	c.364C>T	c.(364-366)CGT>TGT	p.R122C	NLRP11_uc002qlz.2_Missense_Mutation_p.R23C|NLRP11_uc002qmb.2_Missense_Mutation_p.R23C|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	122							ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GAAACGTCACGAAAAAATTTA	0.383													A	56321612	G	A	56321612	3	1	104	1	0	0	0	0	1	0	0	0	10473	1058	37	1	2769	1	NLRP11	19	56321612	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	76784	56321612	2807371	6205	72819											
NLRP13	126204	broad.mit.edu	37	chr19	56407479	56407479	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagttgtcagattgcatttCgccaacctaggggcgggtgg	15	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:56407479C>T	uc010ygg.1	-	11	2989	c.2964G>A	c.(2962-2964)GCG>GCA	p.A988A		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	988							ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GATTGCATTTCGCCAACCTAG	0.458													T	56407479	C	T	56407479	2	4	104	1	0	0	0	0	0	0	0	1	10475	871	31	1		1	NLRP13	19	56407479	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	85867	56407479	2721504	6206	72820											
NLRP13	126204	broad.mit.edu	37	chr19	56423490	56423490	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgcagtaacatcttcatctCttgtggctttgtggaatggg	11	7	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:56423490C>A	uc010ygg.1	-	5	1718	c.1693G>T	c.(1693-1695)GAG>TAG	p.E565*		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	565							ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATCTTCATCTCTTGTGGCTTT	0.433													A	56423490	C	A	56423490	4	1	104	1	0	0	0	0	0	1	0	0	10475	922	32	5	1464	5	NLRP13	19	56423490	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	16011	56423490	2705493	6207	72821											
NLRP8	126205	broad.mit.edu	37	chr19	56459552	56459552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatagagcgtttccctggacGacgcgcttgggatgtgactt	14	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:56459552G>A	uc002qmh.2	+	1	355	c.284G>A	c.(283-285)CGA>CAA	p.R95Q	NLRP8_uc010etg.2_Missense_Mutation_p.R95Q	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	95	DAPIN.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTCCCTGGACGACGCGCTTGG	0.507													A	56459552	G	A	56459552	3	1	104	1	0	0	0	0	1	0	0	0	10483	1058	37	1	286	1	NLRP8	19	56459552	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	36062	56459552	2669431	6208	72822											
NLRP8	126205	broad.mit.edu	37	chr19	56467001	56467001	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgttctctgtttcccacaaaGactcaaaaattttcatgtgt	5	9	3	1	rs75471108	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:56467001G>A	uc002qmh.2	+	3	1648	c.1577G>A	c.(1576-1578)AGA>AAA	p.R526K	NLRP8_uc010etg.2_Missense_Mutation_p.R526K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	526	NACHT.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTCCCACAAAGACTCAAAAAT	0.438													A	56467001	G	A	56467001	3	1	104	1	0	0	0	0	1	0	0	0	10483	942	33	4	1587	4	NLRP8	19	56467001	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	7449	56467001	2661982	6209	72823											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56703252	56703252	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agtgcagcgaccctgggcagGatctgctgctctcggcgggc	16	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:56703252G>T	uc010ygh.1	-	2	555	c.555C>A	c.(553-555)ATC>ATA	p.I185I		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	185					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						CCCTGGGCAGGATCTGCTGCT	0.627													T	56703252	G	T	56703252	2	4	104	1	0	0	0	0	0	0	0	1	18236	1164	41	5		5	ZSCAN5B	19	56703252	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	236251	56703252	2425731	6210	72824											
ZNF583	147949	broad.mit.edu	37	chr19	56935142	56935142	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atacctaattgtacatcagaGaattcatactggagagagac	8	7	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:56935142G>T	uc010ygl.1	+	5	1280	c.1115G>T	c.(1114-1116)AGA>ATA	p.R372I	ZNF583_uc002qnc.2_Missense_Mutation_p.R372I|ZNF583_uc010ygm.1_Missense_Mutation_p.R372I	NM_001159860	NP_001153332	Q96ND8	ZN583_HUMAN	zinc finger protein 583	372	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		GTACATCAGAGAATTCATACT	0.433													T	56935142	G	T	56935142	3	4	104	1	0	0	0	0	1	0	0	0	18012	942	33	5	1129	5	ZNF583	19	56935142	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	231890	56935142	2193841	6211	72825											
ZNF667	63934	broad.mit.edu	37	chr19	56953546	56953546	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttccattgtgaattTtcttatgaagtaaaagggat	7	4	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:56953546T>G	uc002qnd.2	-	5	980	c.818A>C	c.(817-819)AAA>ACA	p.K273T	ZNF667_uc010etl.2_Missense_Mutation_p.K55T|ZNF667_uc002qne.2_Missense_Mutation_p.K273T|ZNF667_uc010etm.2_Missense_Mutation_p.K216T	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	273	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		ATTGTGAATTTTCTTATGAAG	0.343													G	56953546	T	G	56953546	3	3	104	1	0	0	0	0	1	0	0	0	18071	1841	64	5	1018	5	ZNF667	19	56953546	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	18404	56953546	2175437	6212	72826											
ZFP28	140612	broad.mit.edu	37	chr19	57059234	57059234	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaacaaggaaaagagccttgGacagtgaagcgaaagatgac	13	6	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:57059234G>A	uc002qnj.2	+	4	557	c.486G>A	c.(484-486)TGG>TGA	p.W162*	ZFP28_uc002qni.2_Nonsense_Mutation_p.W162*|uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	zinc finger protein 28	162	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AAGAGCCTTGGACAGTGAAGC	0.502													A	57059234	G	A	57059234	4	1	104	1	0	0	0	0	0	1	0	0	17639	1183	41	4	500	4	ZFP28	19	57059234	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	105688	57059234	2069749	6213	72827											
ZFP28	140612	broad.mit.edu	37	chr19	57066652	57066652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcacttagctcatcatcagcGaattcatactggagagtcgt	8	10	5	1	rs150968564		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:57066652G>A	uc002qnj.2	+	8	2569	c.2498G>A	c.(2497-2499)CGA>CAA	p.R833Q	uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	zinc finger protein 28	833	C2H2-type 15; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CATCATCAGCGAATTCATACT	0.423													A	57066652	G	A	57066652	3	1	104	1	0	0	0	0	1	0	0	0	17639	1058	37	1	2528	1	ZFP28	19	57066652	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	7418	57066652	2062331	6214	72828											
ZNF470	388566	broad.mit.edu	37	chr19	57088137	57088137	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taaaccaggatatttatgaaGaaaaattacccccggcaatc	6	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:57088137G>T	uc002qnl.3	+	6	1016	c.340G>T	c.(340-342)GAA>TAA	p.E114*	ZNF470_uc010etn.2_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TATTTATGAAGAAAAATTACC	0.338													T	57088137	G	T	57088137	4	4	104	1	0	0	0	0	0	1	0	0	17926	943	33	5	354	5	ZNF470	19	57088137	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	21485	57088137	2040846	6215	72829											
ZNF470	388566	broad.mit.edu	37	chr19	57089047	57089047	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggacttattcagcataagaGaactcatactggagagagac	10	7	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:57089047G>T	uc002qnl.3	+	6	1926	c.1250G>T	c.(1249-1251)AGA>ATA	p.R417I	ZNF470_uc010etn.2_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	417	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CAGCATAAGAGAACTCATACT	0.418													T	57089047	G	T	57089047	3	4	104	1	0	0	0	0	1	0	0	0	17926	942	33	5	1264	5	ZNF470	19	57089047	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	910	57089047	2039936	6216	72830											
ZNF470	388566	broad.mit.edu	37	chr19	57089613	57089613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggcattcaggcagaggGcatccttgatttgtcatcag	13	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:57089613G>A	uc002qnl.3	+	6	2492	c.1816G>A	c.(1816-1818)GCA>ACA	p.A606T	ZNF470_uc010etn.2_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	606	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CAGGCAGAGGGCATCCTTGAT	0.438													A	57089613	G	A	57089613	3	1	104	1	0	0	0	0	1	0	0	0	17926	1203	42	2	1830	2	ZNF470	19	57089613	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	566	57089613	2039370	6217	72831											
ZNF835	90485	broad.mit.edu	37	chr19	57175095	57175095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcatgcgtcctctggtgtCggatgagcgcggaggagaag	17	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:57175095C>T	uc010ygo.1	-	2	1538	c.1538G>A	c.(1537-1539)CGA>CAA	p.R513Q	ZNF835_uc010ygn.1_Missense_Mutation_p.R491Q	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						CCTCTGGTGTCGGATGAGCGC	0.627													T	57175095	C	T	57175095	3	4	104	1	0	0	0	0	1	0	0	0	18183	884	31	1	143	1	ZNF835	19	57175095	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	85482	57175095	1953888	6218	72832											
PEG3	5178	broad.mit.edu	37	chr19	57329140	57329140	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggtgcttgggtaggcacttCtcttggatcttgatgagtgg	15	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:57329140C>A	uc002qnu.2	-	6	1187	c.836G>T	c.(835-837)AGA>ATA	p.R279I	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Intron|PEG3_uc002qnv.2_Missense_Mutation_p.R279I|PEG3_uc002qnw.2_Missense_Mutation_p.R155I|PEG3_uc002qnx.2_Missense_Mutation_p.R153I|PEG3_uc010etr.2_Missense_Mutation_p.R279I	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	279					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTAGGCACTTCTCTTGGATCT	0.517													A	57329140	C	A	57329140	3	1	104	1	0	0	0	0	1	0	0	0	11720	913	32	5	3938	5	PEG3	19	57329140	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	154045	57329140	1799843	6219	72833											
USP29	57663	broad.mit.edu	37	chr19	57641212	57641212	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaagaagacatggaaaAattaaatgccactttgaata	8	5	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:57641212A>C	uc002qny.2	+	4	1525	c.1169A>C	c.(1168-1170)AAA>ACA	p.K390T		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	390					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GACATGGAAAAATTAAATGCC	0.398													C	57641212	A	C	57641212	3	2	104	1	0	0	0	0	1	0	0	0	17056	14	1	5	1171	5	USP29	19	57641212	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	312072	57641212	1487771	6220	72834											
ZNF460	10794	broad.mit.edu	37	chr19	57802298	57802298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgaacacgaaggtttggCgacagctgatggtatttgtt	12	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:57802298C>T	uc002qog.2	+	3	711	c.389C>T	c.(388-390)GCG>GTG	p.A130V	ZNF460_uc010ygv.1_Missense_Mutation_p.A89V	NM_006635	NP_006626	Q14592	ZN460_HUMAN	zinc finger protein 460	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAAGGTTTGGCGACAGCTGAT	0.448													T	57802298	C	T	57802298	3	4	104	1	0	0	0	0	1	0	0	0	17921	768	27	1	399	1	ZNF460	19	57802298	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	161086	57802298	1326685	6221	72835											
ZNF17	7565	broad.mit.edu	37	chr19	57932413	57932413	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacacttgatacacatcagaGaattcacactggtgaaaggc	8	10	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:57932413G>T	uc002qoo.1	+	3	1784	c.1553G>T	c.(1552-1554)AGA>ATA	p.R518I	ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Missense_Mutation_p.R520I	NM_006959	NP_008890	P17021	ZNF17_HUMAN	zinc finger protein 17	518	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		ACACATCAGAGAATTCACACT	0.408													T	57932413	G	T	57932413	3	4	104	1	0	0	0	0	1	0	0	0	17740	942	33	5	1563	5	ZNF17	19	57932413	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	130115	57932413	1196570	6222	72836											
ZNF749	388567	broad.mit.edu	37	chr19	57956643	57956643	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaattgtttaggactaaatcGagccttattatacatcagca	7	7	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:57956643G>A	uc002qoq.2	+	3	2381	c.2127G>A	c.(2125-2127)TCG>TCA	p.S709S	ZNF547_uc002qpm.3_Intron	NM_001023561	NP_001018855	O43361	ZN749_HUMAN	zinc finger protein 749	709	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GGACTAAATCGAGCCTTATTA	0.393													A	57956643	G	A	57956643	2	1	104	1	0	0	0	0	0	0	0	1	18128	1045	37	1		1	ZNF749	19	57956643	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	24230	57956643	1172340	6223	72837											
ZNF419	79744	broad.mit.edu	37	chr19	58004329	58004329	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagcagcactgtggagagaAacccttaaaaagacaagagg	12	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:58004329A>C	uc002qov.2	+	5	644	c.404A>C	c.(403-405)AAA>ACA	p.K135T	ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.K136T|ZNF419_uc010etz.1_Missense_Mutation_p.K123T|ZNF419_uc010eua.1_Missense_Mutation_p.K122T|ZNF419_uc002qow.2_Missense_Mutation_p.K103T|ZNF419_uc010eub.1_Missense_Mutation_p.K90T|ZNF419_uc010euc.1_Missense_Mutation_p.K89T	NM_024691	NP_078967	Q96HQ0	ZN419_HUMAN	zinc finger protein 419 isoform 2	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TGTGGAGAGAAACCCTTAAAA	0.522													C	58004329	A	C	58004329	3	2	104	1	0	0	0	0	1	0	0	0	17893	14	1	5	425	5	ZNF419	19	58004329	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	47686	58004329	1124654	6224	72838											
ZNF773	374928	broad.mit.edu	37	chr19	58018216	58018216	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggccttatgggtgtagtgaCtgtggaaaatcctttagccg	13	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:58018216C>A	uc002qox.2	+	4	893	c.753C>A	c.(751-753)GAC>GAA	p.D251E	ZNF547_uc002qpm.3_Intron|ZNF773_uc002qoy.2_Missense_Mutation_p.D250E|ZNF773_uc002qoz.2_Intron	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	zinc finger protein 773	251	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		GGTGTAGTGACTGTGGAAAAT	0.408													A	58018216	C	A	58018216	3	1	104	1	0	0	0	0	1	0	0	0	18143	564	20	5	767	5	ZNF773	19	58018216	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	13887	58018216	1110767	6225	72839											
ZIK1	284307	broad.mit.edu	37	chr19	58102074	58102074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaggccttatgagtgcagcGaatgtggaaaattatttaga	11	4	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:58102074G>A	uc002qpg.2	+	4	992	c.895G>A	c.(895-897)GAA>AAA	p.E299K	ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Missense_Mutation_p.E244K|ZIK1_uc002qpi.2_Missense_Mutation_p.E286K|ZIK1_uc002qpj.2_Missense_Mutation_p.E196K	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein	299	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAGTGCAGCGAATGTGGAAA	0.458													A	58102074	G	A	58102074	3	1	104	1	0	0	0	0	1	0	0	0	17680	1059	37	1	909	1	ZIK1	19	58102074	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	83858	58102074	1026909	6226	72840											
ZNF530	348327	broad.mit.edu	37	chr19	58115765	58115765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagaactttgcagttatgGcatccctaggtaaggccctc	11	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:58115765G>A	uc002qpk.2	+	2	371	c.151G>A	c.(151-153)GCA>ACA	p.A51T	ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGCAGTTATGGCATCCCTAGG	0.537													A	58115765	G	A	58115765	3	1	104	1	0	0	0	0	1	0	0	0	17968	1203	42	2	157	2	ZNF530	19	58115765	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13691	58115765	1013218	6227	72841											
ZSCAN4	201516	broad.mit.edu	37	chr19	58187817	58187817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccactgcaatgacaaaGccagtgtgaaagagaaatgg	13	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:58187817G>A	uc002qpu.2	+	3	1001	c.304G>A	c.(304-306)GCC>ACC	p.A102T		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	102	SCAN box.				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAATGACAAAGCCAGTGTGAA	0.423													A	58187817	G	A	58187817	3	1	104	1	0	0	0	0	1	0	0	0	18234	971	34	2	306	2	ZSCAN4	19	58187817	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	72052	58187817	941166	6228	72842											
ZNF671	79891	broad.mit.edu	37	chr19	58232204	58232204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctttctccagtgtgagttCgttggtgcagaacaagtgtg	13	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:58232204C>T	uc002qpz.3	-	4	1349	c.1250G>A	c.(1249-1251)CGA>CAA	p.R417Q	ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.R340Q|ZNF671_uc010yhf.1_Missense_Mutation_p.R319Q	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	417	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGTGTGAGTTCGTTGGTGCAG	0.488													T	58232204	C	T	58232204	3	4	104	1	0	0	0	0	1	0	0	0	18075	884	31	1	358	1	ZNF671	19	58232204	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	44387	58232204	896779	6229	72843											
ZNF671	79891	broad.mit.edu	37	chr19	58234635	58234635	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcacatcatggtacaaaagtCtctgagcatcatcaagaagc	7	10	5	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:58234635C>A	uc002qpz.3	-	2	311	c.212G>T	c.(211-213)AGA>ATA	p.R71I	ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_5'UTR|ZNF671_uc010yhf.1_Intron	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	71	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTACAAAAGTCTCTGAGCATC	0.463													A	58234635	C	A	58234635	3	1	104	1	0	0	0	0	1	0	0	0	18075	913	32	5	1404	5	ZNF671	19	58234635	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2431	58234635	894348	6230	72844											
ZNF418	147686	broad.mit.edu	37	chr19	58438323	58438323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggttcctaaggtgtccctttCgactaaaagatttcccacat	7	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:58438323C>T	uc002qqs.1	-	4	1518	c.1226G>A	c.(1225-1227)CGA>CAA	p.R409Q	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.R324Q	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	409	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GTGTCCCTTTCGACTAAAAGA	0.443													T	58438323	C	T	58438323	3	4	104	1	0	0	0	0	1	0	0	0	17892	884	31	1	808	1	ZNF418	19	58438323	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	203688	58438323	690660	6231	72845											
ZNF606	80095	broad.mit.edu	37	chr19	58489988	58489988	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagaactacagttaaaggatCtttcacactgattacattta	6	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:58489988C>A	uc002qqw.2	-	7	2678	c.2060G>T	c.(2059-2061)AGA>ATA	p.R687I	ZNF606_uc010yhp.1_Missense_Mutation_p.R597I	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	687	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GTTAAAGGATCTTTCACACTG	0.408													A	58489988	C	A	58489988	3	1	104	1	0	0	0	0	1	0	0	0	18029	913	32	5	322	5	ZNF606	19	58489988	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	51665	58489988	638995	6232	72846											
ZNF606	80095	broad.mit.edu	37	chr19	58490033	58490033	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctcaccagtgtgaattCtccgatgagcaacaaggtga	10	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:58490033C>A	uc002qqw.2	-	7	2633	c.2015G>T	c.(2014-2016)AGA>ATA	p.R672I	ZNF606_uc010yhp.1_Missense_Mutation_p.R582I	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	672	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AGTGTGAATTCTCCGATGAGC	0.413													A	58490033	C	A	58490033	3	1	104	1	0	0	0	0	1	0	0	0	18029	913	32	5	367	5	ZNF606	19	58490033	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	45	58490033	638950	6233	72847											
ZSCAN18	65982	broad.mit.edu	37	chr19	58601494	58601494	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcccggaaacgcaggcgggaGaactccaggtcagcaggggt	16	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:58601494G>T	uc002qri.2	-	2	450	c.141C>A	c.(139-141)TTC>TTA	p.F47L	ZSCAN18_uc002qrj.3_Missense_Mutation_p.F47L|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.F47L|ZSCAN18_uc010yht.1_Missense_Mutation_p.F103L|ZSCAN18_uc002qrk.1_Missense_Mutation_p.F47L|ZSCAN18_uc002qrl.2_Missense_Mutation_p.F47L	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	47					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCAGGCGGGAGAACTCCAGGT	0.687													T	58601494	G	T	58601494	3	4	104	1	0	0	0	0	1	0	0	0	18227	933	33	5	1415	5	ZSCAN18	19	58601494	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	111461	58601494	527489	6234	72848											
ZNF544	27300	broad.mit.edu	37	chr19	58773467	58773467	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatgtactcagtgtgggAaatctttcagccagaagtat	9	7	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:58773467A>G	uc010euo.2	+	7	1969	c.1495A>G	c.(1495-1497)AAA>GAA	p.K499E	ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.K471E|ZNF544_uc010yhy.1_Missense_Mutation_p.K471E|ZNF544_uc002qrt.3_Missense_Mutation_p.K357E|ZNF544_uc002qru.3_Missense_Mutation_p.K357E|uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	zinc finger protein 544	499	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TCAGTGTGGGAAATCTTTCAG	0.458													G	58773467	A	G	58773467	3	3	104	1	0	0	0	0	1	0	0	0	17974	247	9	3	1509	3	ZNF544	19	58773467	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	171973	58773467	355516	6235	72849											
ZNF132	7691	broad.mit.edu	37	chr19	58944990	58944990	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggctggattttcggctaaaGaatttcccacattcactgca	8	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:58944990G>A	uc002qst.3	-	3	2222	c.1821C>T	c.(1819-1821)TTC>TTT	p.F607F		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	607	C2H2-type 15.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TTCGGCTAAAGAATTTCCCAC	0.413													A	58944990	G	A	58944990	2	1	104	1	0	0	0	0	0	0	0	1	17719	933	33	4		4	ZNF132	19	58944990	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	171523	58944990	183993	6236	72850											
ZNF132	7691	broad.mit.edu	37	chr19	58945795	58945795	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtctttctcctgagtgaattCtctgatgatgaacaaatgtg	9	7	3	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr19:58945795C>A	uc002qst.3	-	3	1417	c.1016G>T	c.(1015-1017)AGA>ATA	p.R339I		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	339	C2H2-type 5.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TGAGTGAATTCTCTGATGATG	0.408													A	58945795	C	A	58945795	3	1	104	1	0	0	0	0	1	0	0	0	17719	913	32	5	1108	5	ZNF132	19	58945795	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	805	58945795	183188	6237	72851											
DEFB126	81623	broad.mit.edu	37	chr20	123301	123301	+	Missense_Mutation	SNP	T	T	G													actgttcacccttgcagtttTtatgctcctggcccaattgg							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:123301T>G	uc002wcx.2	+	1	50	c.32T>G	c.(31-33)TTT>TGT	p.F11C		NM_030931	NP_112193	Q9BYW3	DB126_HUMAN	defensin, beta 126 preproprotein	11					defense response to bacterium	extracellular region					0		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			CTTGCAGTTTTTATGCTCCTG	0.463													G	123301	T	G	123301	3	3	104	1	0	0	0	0	1	0	0	0	4412	1841	64	5	34	5	DEFB126	20	123301	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08		123301	62902219	6238	72852	330	2									
DEFB126	81623	broad.mit.edu	37	chr20	123306	123306	+	Missense_Mutation	SNP	C	C	T													tcacccttgcagtttttatgCtcctggcccaattggtctca							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:123306C>T	uc002wcx.2	+	1	55	c.37C>T	c.(37-39)CTC>TTC	p.L13F		NM_030931	NP_112193	Q9BYW3	DB126_HUMAN	defensin, beta 126 preproprotein	13					defense response to bacterium	extracellular region					0		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			AGTTTTTATGCTCCTGGCCCA	0.478													T	123306	C	T	123306	3	4	104	1	0	0	0	0	1	0	0	0	4412	797	28	2	39	2	DEFB126	20	123306	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5	123306	62902214	6239	72853	330	2									
DEFB128	245939	broad.mit.edu	37	chr20	168744	168744	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttactttattgaagcattttTtgagtcttgccccgtctgtg	8	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:168744T>G	uc002wcz.1	-	2	65	c.65A>C	c.(64-66)AAA>ACA	p.K22T		NM_001037732	NP_001032821	Q7Z7B8	DB128_HUMAN	beta-defensin 128 precursor	22					defense response to bacterium	extracellular region		p.R20fs*4(1)		breast(1)	1		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GAAGCATTTTTTGAGTCTTGC	0.413													G	168744	T	G	168744	3	3	104	1	0	0	0	0	1	0	0	0	4414	1841	64	5	220	5	DEFB128	20	168744	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	45438	168744	62856776	6240	72854											
DEFB129	140881	broad.mit.edu	37	chr20	207940	207940	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacccaaccatgaagctccTttttcctatctttgccagcc	5	16	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:207940T>G	uc002wda.2	+	1	16	c.11T>G	c.(10-12)CTT>CGT	p.L4R		NM_080831	NP_543021	Q9H1M3	DB129_HUMAN	beta defensin 129 precursor	4					defense response to bacterium	extracellular region				ovary(1)	1		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			ATGAAGCTCCTTTTTCCTATC	0.493													G	207940	T	G	207940	3	3	104	1	0	0	0	0	1	0	0	0	4415	1609	56	5	13	5	DEFB129	20	207940	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	39196	207940	62817580	6241	72855											
CSNK2A1	1457	broad.mit.edu	37	chr20	480539	480539	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acctcctctcaaattctccaAaatctttatttcacgcttaa	1	13	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:480539A>C	uc002wdw.1	-	5	646	c.253T>G	c.(253-255)TTG>GTG	p.L85V	CSNK2A1_uc002wdx.1_Missense_Mutation_p.L85V|CSNK2A1_uc002wdy.1_5'UTR	NM_177559	NP_808227	P68400	CSK21_HUMAN	casein kinase II alpha 1 subunit isoform a	85	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			AAATTCTCCAAAATCTTTATT	0.373													C	480539	A	C	480539	3	2	104	1	0	0	0	0	1	0	0	0	3957	11	1	5	962	5	CSNK2A1	20	480539	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	272599	480539	62544981	6242	72856											
SDCBP2	27111	broad.mit.edu	37	chr20	1291528	1291529	+	Frame_Shift_Ins	INS	-	-	T													ggccagaatctccatgatctINSttttgtcctagggaggaggc							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:1291527_1291528C>CT	uc021vzn.1	-	7	799_800	c.740_741G>AG	c.(739-741)aagfs	p.K247fs	SDCBP2_uc021vzo.1_Frame_Shift_Ins_p.K247fs|SDCBP2_uc002weu.4_Frame_Shift_Ins_p.K162fs|SDCBP2_uc002wev.4_Frame_Shift_Ins_p.K247fs	NM_001199784	NP_001186713	Q9H190	SDCB2_HUMAN	Homo sapiens syndecan binding protein (syntenin) 2 (SDCBP2), transcript variant 3, mRNA.	247	PDZ 2.				intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						TCTCCATGATCTTTTTGTCCTA	0.559													T	1291529	-	T	1291528	7	5	104	1	0	1	1	0	0	0	0	0	13956	1609	56	0	146	0	SDCBP2	20	1291528	Frame_Shift_Ins	INS	-	TCGA-BR-8680-01A-11D-2394-08	810989	1291528	61733992	6243	72857											
SIRPG	55423	broad.mit.edu	37	chr20	1629814	1629814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggtgatgctactgatgCggatggaaaagtccatgttg	15	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:1629814C>T	uc002wfm.1	-	2	379	c.314G>A	c.(313-315)CGC>CAC	p.R105H	SIRPG_uc002wfn.1_Missense_Mutation_p.R105H|SIRPG_uc002wfo.1_Missense_Mutation_p.R105H	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma isoform 1	105	Extracellular (Potential).|Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			ovary(1)	1						GCTACTGATGCGGATGGAAAA	0.483													T	1629814	C	T	1629814	3	4	104	1	0	0	0	0	1	0	0	0	14336	768	27	1	865	1	SIRPG	20	1629814	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	338286	1629814	61395706	6244	72858											
PDYN	5173	broad.mit.edu	37	chr20	1961040	1961040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcaccaccttgaactggcGccggagaaaaccgccatagc	10	14	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:1961040G>A	uc010gaj.2	-	3	936	c.694C>T	c.(694-696)CGC>TGC	p.R232C	uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.R232C|PDYN_uc010zpt.1_Missense_Mutation_p.R77C	NM_024411	NP_077722	P01213	PDYN_HUMAN	beta-neoendorphin-dynorphin preproprotein	232					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.R232H(1)		upper_aerodigestive_tract(1)|ovary(1)	2						TTGAACTGGCGCCGGAGAAAA	0.537													A	1961040	G	A	1961040	3	1	104	1	0	0	0	0	1	0	0	0	11699	1087	38	1	74	1	PDYN	20	1961040	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	331226	1961040	61064480	6245	72859											
STK35	140901	broad.mit.edu	37	chr20	2097735	2097735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaaggcggacatctttgCcctgggcattatcatctggg	12	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:2097735C>T	uc010gak.2	+	3	1316	c.1316C>T	c.(1315-1317)GCC>GTC	p.A439V	STK35_uc010zpu.1_Intron|STK35_uc002wfw.3_Missense_Mutation_p.A306V	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	439	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						GACATCTTTGCCCTGGGCATT	0.498													T	2097735	C	T	2097735	3	4	104	1	0	0	0	0	1	0	0	0	15300	739	26	2	1326	2	STK35	20	2097735	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	136695	2097735	60927785	6246	72860											
TGM6	343641	broad.mit.edu	37	chr20	2377260	2377260	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catacgagcccagggctggaActacgggcaggtctccaggg	15	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:2377260A>C	uc002wfy.1	+	4	594	c.533A>C	c.(532-534)AAC>ACC	p.N178T	TGM6_uc010gal.1_Missense_Mutation_p.N178T	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	178					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	CAGGGCTGGAACTACGGGCAG	0.617													C	2377260	A	C	2377260	3	2	104	1	0	0	0	0	1	0	0	0	15831	43	2	5	547	5	TGM6	20	2377260	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	279525	2377260	60648260	6247	72861											
TGM6	343641	broad.mit.edu	37	chr20	2411116	2411116	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagaatcccaattacaatatCttactctaagtataaagaag	5	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:2411116C>A	uc002wfy.1	+	11	1764	c.1703C>A	c.(1702-1704)TCT>TAT	p.S568Y	TGM6_uc010gal.1_Missense_Mutation_p.S568Y	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	568					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	ATTACAATATCTTACTCTAAG	0.468													A	2411116	C	A	2411116	3	1	104	1	0	0	0	0	1	0	0	0	15831	913	32	5	1745	5	TGM6	20	2411116	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	33856	2411116	60614404	6248	72862											
TMC2	117532	broad.mit.edu	37	chr20	2604963	2604963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaagagaccattgaaaacGatttcccaaccttcctgggc	7	13	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:2604963G>A	uc002wgf.1	+	17	2242	c.2227G>A	c.(2227-2229)GAT>AAT	p.D743N	TMC2_uc002wgg.1_Missense_Mutation_p.D727N	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	743	Extracellular (Potential).					integral to membrane				ovary(3)	3						CATTGAAAACGATTTCCCAAC	0.483													A	2604963	G	A	2604963	3	1	104	1	0	0	0	0	1	0	0	0	15982	1058	37	1	2293	1	TMC2	20	2604963	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	193847	2604963	60420557	6249	72863											
TMC2	117532	broad.mit.edu	37	chr20	2605002	2605002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagatctttgctttcctcGccaatccaggcctgatcatc	7	14	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:2605002G>A	uc002wgf.1	+	17	2281	c.2266G>A	c.(2266-2268)GCC>ACC	p.A756T	TMC2_uc002wgg.1_Missense_Mutation_p.A740T	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	756	Helical; (Potential).					integral to membrane		p.A756T(1)		ovary(3)	3						TGCTTTCCTCGCCAATCCAGG	0.488													A	2605002	G	A	2605002	3	1	104	1	0	0	0	0	1	0	0	0	15982	1087	38	1	2332	1	TMC2	20	2605002	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	39	2605002	60420518	6250	72864											
FASTKD5	60493	broad.mit.edu	37	chr20	3127807	3127807	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggaaatgtcctcttgctTtcccttttagtaacttattc	5	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:3127807T>G	uc002whz.2	-	2	2221	c.1910A>C	c.(1909-1911)AAA>ACA	p.K637T	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	637					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0						TCCTCTTGCTTTCCCTTTTAG	0.488													G	3127807	T	G	3127807	3	3	104	1	0	0	0	0	1	0	0	0	5688	1841	64	5	388	5	FASTKD5	20	3127807	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	522805	3127807	59897713	6251	72865											
SLC4A11	83959	broad.mit.edu	37	chr20	3211414	3211414	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caggggcgcggtggtcagcaGaatcaccaatggctgcccag	15	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:3211414G>T	uc002wig.2	-	10	1342	c.1294C>A	c.(1294-1296)CTG>ATG	p.L432M	SLC4A11_uc010zqe.1_Missense_Mutation_p.L459M|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.L416M	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	432	Helical; (Potential).|Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						GTGGTCAGCAGAATCACCAAT	0.672													T	3211414	G	T	3211414	3	4	104	1	0	0	0	0	1	0	0	0	14652	933	33	5	1421	5	SLC4A11	20	3211414	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	83607	3211414	59814106	6252	72866											
C20orf194	25943	broad.mit.edu	37	chr20	3274887	3274887	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggctaatgctgctgatggcGaaatgctggagaaacctaaa	12	7	0	2	rs61734535		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:3274887G>A	uc002wii.2	-	25	2187	c.2136C>T	c.(2134-2136)TTC>TTT	p.F712F	C20orf194_uc002wij.3_Silent_p.F451F|C20orf194_uc002wik.2_Silent_p.F386F	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	712											0						TGCTGATGGCGAAATGCTGGA	0.438													A	3274887	G	A	3274887	2	1	104	1	0	0	0	0	0	0	0	1	2099	1049	37	1		1	C20orf194	20	3274887	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	63473	3274887	59750633	6253	72867											
C20orf194	25943	broad.mit.edu	37	chr20	3275246	3275246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagcaggctggctcaggGcactgaagagcttctgtgca	13	13	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:3275246G>A	uc002wii.2	-	24	2099	c.2048C>T	c.(2047-2049)GCC>GTC	p.A683V	C20orf194_uc002wij.3_Missense_Mutation_p.A422V|C20orf194_uc002wik.2_Missense_Mutation_p.A357V	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	683											0						CTGGCTCAGGGCACTGAAGAG	0.483													A	3275246	G	A	3275246	3	1	104	1	0	0	0	0	1	0	0	0	2099	1203	42	2	1541	2	C20orf194	20	3275246	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	359	3275246	59750274	6254	72868											
C20orf194	25943	broad.mit.edu	37	chr20	3306889	3306889	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taacatgcaatgccagccaaAacagcctcaataacagcagc	6	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:3306889A>C	uc002wii.2	-	13	1194	c.1143T>G	c.(1141-1143)GTT>GTG	p.V381V	C20orf194_uc002wij.3_Silent_p.V120V|C20orf194_uc002wik.2_Silent_p.V55V|C20orf194_uc010gay.1_RNA	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	381											0						TGCCAGCCAAAACAGCCTCAA	0.308													C	3306889	A	C	3306889	2	2	104	1	0	0	0	0	0	0	0	1	2099	1	1	5		5	C20orf194	20	3306889	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	31643	3306889	59718631	6255	72869											
C20orf194	25943	broad.mit.edu	37	chr20	3340185	3340185	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgaaagcaaactctccagaGacataggatccatcttgctg	8	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:3340185G>T	uc002wii.2	-	7	719	c.668C>A	c.(667-669)TCT>TAT	p.S223Y	C20orf194_uc002wik.2_5'UTR|C20orf194_uc010gay.1_RNA	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	223											0						ACTCTCCAGAGACATAGGATC	0.363													T	3340185	G	T	3340185	3	4	104	1	0	0	0	0	1	0	0	0	2099	942	33	5	2989	5	C20orf194	20	3340185	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	33296	3340185	59685335	6256	72870											
SIGLEC1	6614	broad.mit.edu	37	chr20	3677393	3677393	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgggatgggacctggggAcccaggctggtggccaggag	19	10	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:3677393A>G	uc002wja.2	-	10	2523	c.2523T>C	c.(2521-2523)GGT>GGC	p.G841G	SIGLEC1_uc002wiz.3_Silent_p.G841G	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	841	Ig-like C2-type 8.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						GGACCTGGGGACCCAGGCTGG	0.637													G	3677393	A	G	3677393	2	3	104	1	0	0	0	0	0	0	0	1	14305	262	10	3		3	SIGLEC1	20	3677393	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	337208	3677393	59348127	6257	72871											
PRND	23627	broad.mit.edu	37	chr20	4705395	4705395	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcaagcaaggccgcaagctCgacattgacttcggagccga	11	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:4705395C>T	uc002wkz.2	+	2	269	c.198C>T	c.(196-198)CTC>CTT	p.L66L		NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	prion-like protein doppel preproprotein	66	Globular.				protein homooligomerization	anchored to membrane|plasma membrane					0						GCCGCAAGCTCGACATTGACT	0.602													T	4705395	C	T	4705395	2	4	104	1	0	0	0	0	0	0	0	1	12543	871	31	1		1	PRND	20	4705395	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1028002	4705395	58320125	6258	72872											
CHGB	1114	broad.mit.edu	37	chr20	5904101	5904101	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgtctgacaccagagaagaGaaaaggttcttgggtgaagg	14	5	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:5904101G>T	uc002wmg.2	+	4	1617	c.1311G>T	c.(1309-1311)GAG>GAT	p.E437D	CHGB_uc010zqz.1_Missense_Mutation_p.E120D	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	437						extracellular region	hormone activity			breast(3)|skin(2)|ovary(1)	6						CCAGAGAAGAGAAAAGGTTCT	0.542													T	5904101	G	T	5904101	3	4	104	1	0	0	0	0	1	0	0	0	3339	933	33	5	1325	5	CHGB	20	5904101	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1198706	5904101	57121419	6259	72873											
MCM8	84515	broad.mit.edu	37	chr20	5943947	5943947	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgtgtgtcgaggcaggTcatttactgctctccgcagc	12	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:5943947T>C	uc002wmi.2	+	8	1194	c.817T>C	c.(817-819)TCA>CCA	p.S273P	MCM8_uc002wmj.2_Missense_Mutation_p.S273P|MCM8_uc002wmk.2_Missense_Mutation_p.S273P|MCM8_uc002wml.2_Missense_Mutation_p.S273P|MCM8_uc010gbp.2_Missense_Mutation_p.S273P	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	273					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1						TCGAGGCAGGTCATTTACTGC	0.413													C	5943947	T	C	5943947	3	2	104	1	0	0	0	0	1	0	0	0	9393	1667	58	3	843	3	MCM8	20	5943947	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	39846	5943947	57081573	6260	72874											
PLCB1	23236	broad.mit.edu	37	chr20	8707987	8707987	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agttttgaaatgtcttccttCgtggaaaccaaaggacttga	9	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:8707987C>T	uc002wnb.2	+	17	1713	c.1710C>T	c.(1708-1710)TTC>TTT	p.F570F	PLCB1_uc010zrb.1_Silent_p.F469F|PLCB1_uc002wna.2_Silent_p.F570F|PLCB1_uc002wnc.1_Silent_p.F469F|PLCB1_uc002wnd.1_Silent_p.F147F	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	570	PI-PLC Y-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						TGTCTTCCTTCGTGGAAACCA	0.353													T	8707987	C	T	8707987	2	4	104	1	0	0	0	0	0	0	0	1	12027	883	31	1		1	PLCB1	20	8707987	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2764040	8707987	54317533	6261	72875											
PLCB1	23236	broad.mit.edu	37	chr20	8862337	8862337	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccctcgagattttggaattCgtgcaggaagccatgaaagg	12	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:8862337C>T	uc002wnb.2	+	32	3495	c.3492C>T	c.(3490-3492)TTC>TTT	p.F1164F	PLCB1_uc002wna.2_3'UTR	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	1164					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						TTTTGGAATTCGTGCAGGAAG	0.493													T	8862337	C	T	8862337	2	4	104	1	0	0	0	0	0	0	0	1	12027	883	31	1		1	PLCB1	20	8862337	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	154350	8862337	54163183	6262	72876											
PLCB4	5332	broad.mit.edu	37	chr20	9370547	9370547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtaattcaagccatcaagGaaactgcatttgtcacatca	6	9	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:9370547G>A	uc002wnf.2	+	15	1316	c.1180G>A	c.(1180-1182)GAA>AAA	p.E394K	PLCB4_uc010gbw.1_Missense_Mutation_p.E394K|PLCB4_uc010gbx.2_Missense_Mutation_p.E394K|PLCB4_uc002wne.2_Missense_Mutation_p.E394K|PLCB4_uc002wnh.2_Missense_Mutation_p.E241K	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	394	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			skin(11)|ovary(3)|pancreas(1)	15						AGCCATCAAGGAAACTGCATT	0.333													A	9370547	G	A	9370547	3	1	104	1	0	0	0	0	1	0	0	0	12030	1175	41	4	1230	4	PLCB4	20	9370547	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	508210	9370547	53654973	6263	72877											
PLCB4	5332	broad.mit.edu	37	chr20	9402103	9402103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgaagagtcatttgtatttCggaaggtaggacattttcag	11	4	2	2	rs148851937		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:9402103C>T	uc002wnf.2	+	25	2414	c.2278C>T	c.(2278-2280)CGG>TGG	p.R760W	PLCB4_uc010gbw.1_Missense_Mutation_p.R760W|PLCB4_uc010gbx.2_Missense_Mutation_p.R772W|PLCB4_uc002wne.2_Missense_Mutation_p.R760W|PLCB4_uc002wnh.2_Missense_Mutation_p.R607W	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	760	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.R760W(1)		skin(11)|ovary(3)|pancreas(1)	15						ATTTGTATTTCGGAAGGTAGG	0.423													T	9402103	C	T	9402103	3	4	104	1	0	0	0	0	1	0	0	0	12030	875	31	1	2408	1	PLCB4	20	9402103	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	31556	9402103	53623417	6264	72878											
ANKRD5	63926	broad.mit.edu	37	chr20	10025099	10025099	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggggtagtggaaatagttCgaggcatattggaaagagga	16	2	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:10025099C>T	uc002wno.2	+	5	997	c.604C>T	c.(604-606)CGA>TGA	p.R202*	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Nonsense_Mutation_p.R202*|ANKRD5_uc010gbz.2_Nonsense_Mutation_p.R13*	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	202	ANK 2.						calcium ion binding			ovary(1)|breast(1)	2						GGAAATAGTTCGAGGCATATT	0.438													T	10025099	C	T	10025099	4	4	104	1	0	0	0	0	0	1	0	0	676	876	31	1	614	1	ANKRD5	20	10025099	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	622996	10025099	53000421	6265	72879											
JAG1	182	broad.mit.edu	37	chr20	10626682	10626682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgtaggagttgacaccatCgatgcaagtgccaccgtttc	10	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:10626682C>T	uc002wnw.2	-	15	2452	c.1936G>A	c.(1936-1938)GAT>AAT	p.D646N	JAG1_uc010gcd.1_Missense_Mutation_p.D204N	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	646	Extracellular (Potential).|EGF-like 11; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						TTGACACCATCGATGCAAGTG	0.468									Alagille_Syndrome				T	10626682	C	T	10626682	3	4	104	1	0	0	0	0	1	0	0	0	7934	884	31	1	1768	1	JAG1	20	10626682	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	601583	10626682	52398838	6266	72880											
TASP1	55617	broad.mit.edu	37	chr20	13561609	13561609	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cataagagtctgttggcaacCgagactgggttcttgattcc	11	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:13561609C>A	uc002woi.2	-	6	540	c.423G>T	c.(421-423)TCG>TCT	p.S141S	TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Silent_p.S118S|TASP1_uc010zrj.1_RNA	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	taspase 1 precursor	141					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity				0						TGTTGGCAACCGAGACTGGGT	0.418													A	13561609	C	A	13561609	2	1	104	1	0	0	0	0	0	0	0	1	15586	639	23	5		5	TASP1	20	13561609	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2934927	13561609	49463911	6267	72881											
SNRPB2	6629	broad.mit.edu	37	chr20	16717945	16717945	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagattcggatataatatcaAaaatgcgtggaacttttgct	8	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:16717945A>C	uc002wph.1	+	4	493	c.277A>C	c.(277-279)AAA>CAA	p.K93Q	SNRPB2_uc002wpi.1_Missense_Mutation_p.K93Q	NM_003092	NP_003083	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B''	93						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(1)	1						TATAATATCAAAAATGCGTGG	0.318													C	16717945	A	C	16717945	3	2	104	1	0	0	0	0	1	0	0	0	14862	15	1	5	287	5	SNRPB2	20	16717945	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	3156336	16717945	46307575	6268	72882											
CSRP2BP	57325	broad.mit.edu	37	chr20	18142616	18142616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagagcccagaaggaggccGctggctttcttgacaggagc	15	10	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:18142616G>A	uc002wqj.2	+	6	1457	c.835G>A	c.(835-837)GCT>ACT	p.A279T	CSRP2BP_uc002wqk.2_Missense_Mutation_p.A151T|CSRP2BP_uc010zru.1_Missense_Mutation_p.A150T	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	279					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						GAAGGAGGCCGCTGGCTTTCT	0.478													A	18142616	G	A	18142616	3	1	104	1	0	0	0	0	1	0	0	0	3968	1087	38	1	853	1	CSRP2BP	20	18142616	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1424671	18142616	44882904	6269	72883											
POLR3F	10621	broad.mit.edu	37	chr20	18461089	18461089	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acagaacccaatgatacaaaGaaatagttcatttgcctcat	5	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:18461089G>T	uc002wqv.2	+	7	735	c.617G>T	c.(616-618)AGA>ATA	p.R206I	POLR3F_uc002wqw.2_RNA|POLR3F_uc002wqx.2_Missense_Mutation_p.R165I	NM_006466	NP_006457	Q9H1D9	RPC6_HUMAN	DNA-directed RNA polymerase III 39 kDa	206					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding				0						ATGATACAAAGAAATAGTTCA	0.318													T	18461089	G	T	18461089	3	4	104	1	0	0	0	0	1	0	0	0	12233	942	33	5	643	5	POLR3F	20	18461089	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	318473	18461089	44564431	6270	72884											
NAA20	51126	broad.mit.edu	37	chr20	20007509	20007509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctgttgccccagaatttcGacgccttggtttggctgcta	11	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:20007509G>A	uc002wrp.2	+	4	355	c.251G>A	c.(250-252)CGA>CAA	p.R84Q	NAA20_uc002wrq.2_Missense_Mutation_p.R84Q|NAA20_uc002wrr.2_Missense_Mutation_p.R72Q	NM_016100	NP_057184	P61599	NAA20_HUMAN	N-acetyltransferase 5 isoform a	84	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity				0						CCAGAATTTCGACGCCTTGGT	0.448													A	20007509	G	A	20007509	3	1	104	1	0	0	0	0	1	0	0	0	10120	1058	37	1	286	1	NAA20	20	20007509	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1546420	20007509	43018011	6271	72885											
NAA20	51126	broad.mit.edu	37	chr20	20013155	20013155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttttcttttaaagaaaGggtggattttttgtggatct	10	2	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:20013155G>A	uc002wrp.2	+	5	413	c.309G>A	c.(307-309)AAG>AAA	p.K103K	NAA20_uc002wrq.2_Intron|NAA20_uc002wrr.2_Silent_p.K91K	NM_016100	NP_057184	P61599	NAA20_HUMAN	N-acetyltransferase 5 isoform a	103	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity				0						TTTAAAGAAAGGGTGGATTTT	0.323													A	20013155	G	A	20013155	2	1	104	1	0	0	0	0	0	0	0	1	10120	991	35	4		4	NAA20	20	20013155	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5646	20013155	43012365	6272	72886											
C20orf26	26074	broad.mit.edu	37	chr20	20140041	20140041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgccagagaagctgcatccGaggaagctttaacagcagtc	11	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:20140041G>A	uc002wru.2	+	10	1055	c.979G>A	c.(979-981)GAG>AAG	p.E327K	C20orf26_uc010gcw.1_Missense_Mutation_p.E281K|C20orf26_uc010zse.1_Missense_Mutation_p.E327K|C20orf26_uc010zsf.1_Missense_Mutation_p.E327K	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	327										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		AGCTGCATCCGAGGAAGCTTT	0.403													A	20140041	G	A	20140041	3	1	104	1	0	0	0	0	1	0	0	0	2106	1059	37	1	1013	1	C20orf26	20	20140041	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	126886	20140041	42885479	6273	72887											
C20orf26	26074	broad.mit.edu	37	chr20	20322485	20322485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccttaccagctacttcaccGagccgtggtgcctggccctg	10	16	1	0	rs147197543		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:20322485G>A	uc002wru.2	+	26	3509	c.3433G>A	c.(3433-3435)GAG>AAG	p.E1145K	C20orf26_uc002wrw.2_RNA	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	1145										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		CTACTTCACCGAGCCGTGGTG	0.433													A	20322485	G	A	20322485	3	1	104	1	0	0	0	0	1	0	0	0	2106	1059	37	1	3563	1	C20orf26	20	20322485	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	182444	20322485	42703035	6274	72888											
RALGAPA2	57186	broad.mit.edu	37	chr20	20493273	20493273	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgactttcattgcagaatcGaagttatgactctggatata	9	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:20493273G>A	uc002wrz.2	-	32	4883	c.4740C>T	c.(4738-4740)TTC>TTT	p.F1580F	RALGAPA2_uc010gcx.2_Silent_p.F1284F|RALGAPA2_uc010zsg.1_Silent_p.F1028F|RALGAPA2_uc002wsa.1_Silent_p.F352F	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1580					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						TTGCAGAATCGAAGTTATGAC	0.468													A	20493273	G	A	20493273	2	1	104	1	0	0	0	0	0	0	0	1	13014	1049	37	1		1	RALGAPA2	20	20493273	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	170788	20493273	42532247	6275	72889											
CD93	22918	broad.mit.edu	37	chr20	23064997	23064997	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccttcttctcctccctcttCgctctccgcttgcgatagac	5	18	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:23064997C>T	uc002wsv.2	-	1	1981	c.1833G>A	c.(1831-1833)GCG>GCA	p.A611A		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	611	Cytoplasmic (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCTCCCTCTTCGCTCTCCGCT	0.572													T	23064997	C	T	23064997	2	4	104	1	0	0	0	0	0	0	0	1	3047	871	31	1		1	CD93	20	23064997	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2571724	23064997	39960523	6276	72890											
CST9	128822	broad.mit.edu	37	chr20	23584228	23584228	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgcagcatccacagctgtgGacctgaggaaagctgatgcc	12	11	0	2	rs141512970	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:23584228G>A	uc002wtl.2	-	2	508	c.399C>T	c.(397-399)GTC>GTT	p.V133V		NM_001008693	NP_001008693	Q5W186	CST9_HUMAN	cystatin 9 precursor	133						extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1	Colorectal(13;0.0993)					CACAGCTGTGGACCTGAGGAA	0.522													A	23584228	G	A	23584228	2	1	104	1	0	0	0	0	0	0	0	1	3979	1161	41	4		4	CST9	20	23584228	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	519231	23584228	39441292	6277	72891											
CST3	1471	broad.mit.edu	37	chr20	23614628	23614628	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcgtagatctggaaagagcaGaatgctttctgtgaaaggaa	13	5	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:23614628G>A	uc002wtm.2	-	3	441	c.366C>T	c.(364-366)TTC>TTT	p.F122F	CST3_uc002wtn.1_Silent_p.F122F	NM_000099	NP_000090	P01034	CYTC_HUMAN	cystatin C precursor	122					defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly	extracellular space	beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding			ovary(1)	1	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GGAAAGAGCAGAATGCTTTCT	0.542													A	23614628	G	A	23614628	2	1	104	1	0	0	0	0	0	0	0	1	3973	933	33	4		4	CST3	20	23614628	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	30400	23614628	39410892	6278	72892											
PYGB	5834	broad.mit.edu	37	chr20	25258996	25258996	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggctgaagcaggagtacttCgtggtggccgccacgctcca	14	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:25258996C>T	uc002wup.2	+	8	1006	c.897C>T	c.(895-897)TTC>TTT	p.F299F		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	299					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	AGGAGTACTTCGTGGTGGCCG	0.612													T	25258996	C	T	25258996	2	4	104	1	0	0	0	0	0	0	0	1	12860	883	31	1		1	PYGB	20	25258996	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1644368	25258996	37766524	6279	72893											
HM13	81502	broad.mit.edu	37	chr20	30137889	30137889	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttggcaccaatgtgatggTgacagtggccaagtccttcg	12	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:30137889T>G	uc002wwe.2	+	7	803	c.689T>G	c.(688-690)GTG>GGG	p.V230G	HM13_uc002wwc.2_Missense_Mutation_p.V230G|HM13_uc002wwd.2_Missense_Mutation_p.V230G|HM13_uc002wwf.2_Missense_Mutation_p.V106G|HM13_uc010gdu.2_Missense_Mutation_p.V106G	NM_030789	NP_110416	Q8TCT9	HM13_HUMAN	minor histocompatibility antigen 13 isoform 1	230	Helical; (Potential).				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)	1	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			AATGTGATGGTGACAGTGGCC	0.567													G	30137889	T	G	30137889	3	3	104	1	0	0	0	0	1	0	0	0	7217	1696	59	5	782	5	HM13	20	30137889	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	4878893	30137889	32887631	6280	72894											
TPX2	22974	broad.mit.edu	37	chr20	30366672	30366672	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcaacctgtcccaaggaaaGaaaagaacatttgatgaaac	7	8	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:30366672G>T	uc002wwp.1	+	10	1637	c.939G>T	c.(937-939)AAG>AAT	p.K313N	TPX2_uc010gdv.1_Missense_Mutation_p.K313N	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated protein homolog	313					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			large_intestine(1)|ovary(1)	2			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CCCAAGGAAAGAAAAGAACAT	0.418													T	30366672	G	T	30366672	3	4	104	1	0	0	0	0	1	0	0	0	16429	933	33	5	969	5	TPX2	20	30366672	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	228783	30366672	32658848	6281	72895											
DUSP15	128853	broad.mit.edu	37	chr20	30452790	30452790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtatcagcgaccgggatgcGaaggtaggtgatatcctgca	15	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:30452790G>A	uc002wwu.1	-	4	222	c.145C>T	c.(145-147)CGC>TGC	p.R49C	DUSP15_uc002wwv.1_5'UTR|DUSP15_uc002www.1_5'UTR|DUSP15_uc002wwx.1_Missense_Mutation_p.R52C			Q9H1R2	DUS15_HUMAN	RecName: Full=Dual specificity protein phosphatase 15;          EC=3.1.3.48;          EC=3.1.3.16; AltName: Full=Vaccinia virus VH1-related dual-specific protein phosphatase Y; AltName: Full=VH1-related member Y;	49						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACCGGGATGCGAAGGTAGGTG	0.572													A	30452790	G	A	30452790	3	1	104	1	0	0	0	0	1	0	0	0	4815	1058	37	1	569	1	DUSP15	20	30452790	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	86118	30452790	32572730	6282	72896											
TTLL9	164395	broad.mit.edu	37	chr20	30510818	30510818	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattcccgtggagaactatgTggctcagcgttacattgaaa	10	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:30510818T>C	uc010gdx.1	+	8	879	c.626T>C	c.(625-627)GTG>GCG	p.V209A	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.V96A|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	209	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GAGAACTATGTGGCTCAGCGT	0.368													C	30510818	T	C	30510818	3	2	104	1	0	0	0	0	1	0	0	0	16731	1696	59	3	652	3	TTLL9	20	30510818	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	58028	30510818	32514702	6283	72897											
TTLL9	164395	broad.mit.edu	37	chr20	30522582	30522582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agacactcttcagggacatcGacaacatctttgtcaaaagc	7	11	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:30522582G>A	uc010gdx.1	+	12	1148	c.895G>A	c.(895-897)GAC>AAC	p.D299N	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_Intron|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.D201N|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	299	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CAGGGACATCGACAACATCTT	0.587													A	30522582	G	A	30522582	3	1	104	1	0	0	0	0	1	0	0	0	16731	1058	37	1	937	1	TTLL9	20	30522582	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	11764	30522582	32502938	6284	72898											
TTLL9	164395	broad.mit.edu	37	chr20	30526969	30526969	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgggaagggagaagcgagtCgggggctttgacctcatgtg	18	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:30526969C>T	uc010gdx.1	+	14	1396	c.1143C>T	c.(1141-1143)GTC>GTT	p.V381V	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_Intron|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Silent_p.V283V|TTLL9_uc010ztp.1_Intron|TTLL9_uc010ztq.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	381					protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGAAGCGAGTCGGGGGCTTTG	0.577													T	30526969	C	T	30526969	2	4	104	1	0	0	0	0	0	0	0	1	16731	871	31	1		1	TTLL9	20	30526969	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4387	30526969	32498551	6285	72899											
PDRG1	81572	broad.mit.edu	37	chr20	30538170	30538170	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctctcgattctgattcctTttagtgtccaggtccacaat	6	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:30538170T>G	uc002wxd.2	-	2	227	c.108A>C	c.(106-108)AAA>AAC	p.K36N		NM_030815	NP_110442	Q9NUG6	PDRG1_HUMAN	p53 and DNA damage-regulated protein	36					protein folding	prefoldin complex	unfolded protein binding				0			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCTGATTCCTTTTAGTGTCCA	0.527													G	30538170	T	G	30538170	3	3	104	1	0	0	0	0	1	0	0	0	11690	1838	64	5	309	5	PDRG1	20	30538170	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	11201	30538170	32487350	6286	72900											
KIF3B	9371	broad.mit.edu	37	chr20	30919089	30919089	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaacccctgcatctcagctTtatccacagtctcgggggct	10	14	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:30919089T>G	uc002wxq.2	+	9	2378	c.2211T>G	c.(2209-2211)CTT>CTG	p.L737L	KIF3B_uc010ztw.1_Silent_p.L675L	NM_004798	NP_004789	O15066	KIF3B_HUMAN	kinesin family member 3B	737	Globular.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			central_nervous_system(3)|ovary(2)	5			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CATCTCAGCTTTATCCACAGT	0.498													G	30919089	T	G	30919089	2	3	104	1	0	0	0	0	0	0	0	1	8301	1828	64	5		5	KIF3B	20	30919089	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	380919	30919089	32106431	6287	72901											
COMMD7	149951	broad.mit.edu	37	chr20	31292274	31292274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acttcccactttctccaattCgctgctcccagatgtcactg	5	16	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:31292274C>T	uc002wya.3	-	7	1062	c.445G>A	c.(445-447)GAA>AAA	p.E149K	COMMD7_uc010ged.2_Missense_Mutation_p.E148K|COMMD7_uc002wyb.2_Missense_Mutation_p.E149K	NM_053041	NP_444269	Q86VX2	COMD7_HUMAN	COMM domain containing 7 isoform 1	149	COMM.				negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway		NF-kappaB binding			breast(1)	1						TTCTCCAATTCGCTGCTCCCA	0.368													T	31292274	C	T	31292274	3	4	104	1	0	0	0	0	1	0	0	0	3721	893	31	1	169	1	COMMD7	20	31292274	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	373185	31292274	31733246	6288	72902											
C20orf185	359710	broad.mit.edu	37	chr20	31652621	31652621	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactcctgcagaccaacggCgccctcgacatggacatcac	10	16	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:31652621C>T	uc002wym.1	+	8	894	c.894C>T	c.(892-894)GGC>GGT	p.G298G		NM_182658	NP_872599	P59826	LPLC3_HUMAN	antimicrobial peptide RYA3 precursor	298					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4						AGACCAACGGCGCCCTCGACA	0.617													T	31652621	C	T	31652621	2	4	104	1	0	0	0	0	0	0	0	1	2097	755	27	1		1	C20orf185	20	31652621	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	360347	31652621	31372899	6289	72903											
C20orf185	359710	broad.mit.edu	37	chr20	31656729	31656729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccagccaacatccatgtgCtgttctatgtccctaagggg	9	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:31656729C>T	uc002wym.1	+	10	1099	c.1099C>T	c.(1099-1101)CTG>TTG	p.L367L		NM_182658	NP_872599	P59826	LPLC3_HUMAN	antimicrobial peptide RYA3 precursor	367					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4						CATCCATGTGCTGTTCTATGT	0.592													T	31656729	C	T	31656729	2	4	104	1	0	0	0	0	0	0	0	1	2097	796	28	2		2	C20orf185	20	31656729	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4108	31656729	31368791	6290	72904											
C20orf70	140683	broad.mit.edu	37	chr20	31756955	31756955	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtcaagacaaaagatgCttcagctttggaaacttgtt	10	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:31756955C>A	uc002wyo.1	+	2	75	c.4C>A	c.(4-6)CTT>ATT	p.L2I		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	chromosome 20 open reading frame 70 precursor	2						extracellular region	lipid binding			ovary(1)|central_nervous_system(1)	2						ACAAAAGATGCTTCAGCTTTG	0.473													A	31756955	C	A	31756955	3	1	104	1	0	0	0	0	1	0	0	0	2116	797	28	5	6	5	C20orf70	20	31756955	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	100226	31756955	31268565	6291	72905											
C20orf70	140683	broad.mit.edu	37	chr20	31760789	31760789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcttcagaaatccagtgCttggcaactggccaagcaga	11	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:31760789C>T	uc002wyo.1	+	3	280	c.209C>T	c.(208-210)GCT>GTT	p.A70V		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	chromosome 20 open reading frame 70 precursor	70						extracellular region	lipid binding			ovary(1)|central_nervous_system(1)	2						AAATCCAGTGCTTGGCAACTG	0.433													T	31760789	C	T	31760789	3	4	104	1	0	0	0	0	1	0	0	0	2116	797	28	2	215	2	C20orf70	20	31760789	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3834	31760789	31264731	6292	72906											
PLUNC	51297	broad.mit.edu	37	chr20	31829266	31829266	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcctgcctgagttggtTcagggcaacgtaagtaggca	13	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:31829266T>G	uc002wyv.2	+	6	727	c.657T>G	c.(655-657)GTT>GTG	p.V219V	PLUNC_uc002wyt.3_Silent_p.V219V|PLUNC_uc002wyu.3_Silent_p.V219V	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	palate, lung and nasal epithelium associated	219					innate immune response	extracellular region	lipid binding				0						CTGAGTTGGTTCAGGGCAACG	0.512													G	31829266	T	G	31829266	2	3	104	1	0	0	0	0	0	0	0	1	12115	1770	62	5		5	PLUNC	20	31829266	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	68477	31829266	31196254	6293	72907											
C20orf114	92747	broad.mit.edu	37	chr20	31879790	31879790	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcccaatctagtgaaaaAccaggtgagtggaatcaggg	12	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:31879790A>G	uc002wyw.1	+	6	754	c.593A>G	c.(592-594)AAC>AGC	p.N198S	C20orf114_uc010gej.1_Missense_Mutation_p.N198S	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	LPLUNC1 protein precursor	198						extracellular space	lipid binding			central_nervous_system(2)|skin(2)	4						CTAGTGAAAAACCAGGTGAGT	0.562											OREG0025868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	31879790	A	G	31879790	3	3	104	1	0	0	0	0	1	0	0	0	2082	43	2	3	611	3	C20orf114	20	31879790	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	50524	31879790	31145730	6294	72908											
C20orf134	170487	broad.mit.edu	37	chr20	32255772	32255772	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgcccaaaacgctgcggAcacgcctggcagacaccgtg	12	14	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:32255772A>G	uc002wzt.2	+	1	1469	c.469A>G	c.(469-471)ACA>GCA	p.T157A	NECAB3_uc002wzm.3_Intron|NECAB3_uc002wzn.3_Intron|NECAB3_uc002wzo.3_Intron|NECAB3_uc002wzp.3_Intron|NECAB3_uc002wzq.3_Intron|NECAB3_uc002wzr.3_Intron|NECAB3_uc010geo.2_Intron	NM_001024675	NP_001019846	Q5JWF8	CT134_HUMAN	hypothetical protein LOC170487	157										pancreas(1)	1						AACGCTGCGGACACGCCTGGC	0.706													G	32255772	A	G	32255772	3	3	104	1	0	0	0	0	1	0	0	0	2087	275	10	3	471	3	C20orf134	20	32255772	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	375982	32255772	30769748	6295	72909											
ZNF341	84905	broad.mit.edu	37	chr20	32371624	32371624	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgccaagtgtgcaagaagttCttccggcgggagcattatct	12	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:32371624C>A	uc002wzy.2	+	12	1826	c.1806C>A	c.(1804-1806)TTC>TTA	p.F602L	ZNF341_uc002wzx.2_Missense_Mutation_p.F595L|ZNF341_uc010geq.2_Missense_Mutation_p.F512L|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	602	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GCAAGAAGTTCTTCCGGCGGG	0.532													A	32371624	C	A	32371624	3	1	104	1	0	0	0	0	1	0	0	0	17854	912	32	5	1831	5	ZNF341	20	32371624	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	115852	32371624	30653896	6296	72910											
RALY	22913	broad.mit.edu	37	chr20	32660006	32660006	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcagatgtggagaccatcttCtctaagtatggccgtgtggc	12	9	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:32660006C>T	uc002xab.2	+	3	424	c.126C>T	c.(124-126)TTC>TTT	p.F42F	RALY_uc010zui.1_Silent_p.F42F|RALY_uc002xac.2_Silent_p.F42F|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Silent_p.F42F	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	RNA binding protein (autoantigenic,	42	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(1)	1						AGACCATCTTCTCTAAGTATG	0.512													T	32660006	C	T	32660006	2	4	104	1	0	0	0	0	0	0	0	1	13019	912	32	4		4	RALY	20	32660006	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	288382	32660006	30365514	6297	72911											
EIF2S2	8894	broad.mit.edu	37	chr20	32677684	32677684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaggattgtgtccggtgatCggcatgtgtgacaagtgaca	15	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:32677684C>T	uc002xaf.2	-	9	1023	c.854G>A	c.(853-855)CGA>CAA	p.R285Q	EIF2S2_uc002xag.2_Missense_Mutation_p.R282Q|EIF2S2_uc010ges.2_Missense_Mutation_p.R225Q	NM_003908	NP_003899	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2 beta	285	C4-type (Potential).					cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			large_intestine(1)	1						GTCCGGTGATCGGCATGTGTG	0.448													T	32677684	C	T	32677684	3	4	104	1	0	0	0	0	1	0	0	0	5010	884	31	1	151	1	EIF2S2	20	32677684	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	17678	32677684	30347836	6298	72912											
GSS	2937	broad.mit.edu	37	chr20	33516680	33516680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactcccgctgccacaccaCcatctgcatgctcgatggct	7	19	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:33516680C>T	uc002xbg.2	-	13	1456	c.1376G>A	c.(1375-1377)GGT>GAT	p.G459D	GSS_uc010zun.1_Missense_Mutation_p.G331D|GSS_uc010zuo.1_Missense_Mutation_p.G348D|GSS_uc010zup.1_Missense_Mutation_p.G390D|GSS_uc002xbh.2_RNA	NM_000178	NP_000169	P48637	GSHB_HUMAN	glutathione synthetase	459					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TGCCACACCACCATCTGCATG	0.542													T	33516680	C	T	33516680	3	4	104	1	0	0	0	0	1	0	0	0	6829	507	18	4	52	4	GSS	20	33516680	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	838996	33516680	29508840	6299	72913											
EDEM2	55741	broad.mit.edu	37	chr20	33703611	33703611	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagggggtgatcaccgcgtcGaaggtggacccattgttgtg	16	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:33703611G>A	uc002xbo.2	-	11	1462	c.1362C>T	c.(1360-1362)TTC>TTT	p.F454F	EDEM2_uc010zus.1_Silent_p.F233F|EDEM2_uc002xbq.2_Silent_p.F417F|EDEM2_uc010zut.1_Silent_p.F413F|EDEM2_uc002xbp.2_Silent_p.F302F|EDEM2_uc002xbn.2_Silent_p.F302F|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Silent_p.F178F	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like	454					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TCACCGCGTCGAAGGTGGACC	0.577													A	33703611	G	A	33703611	2	1	104	1	0	0	0	0	0	0	0	1	4912	1049	37	1		1	EDEM2	20	33703611	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	186931	33703611	29321909	6300	72914											
EIF6	3692	broad.mit.edu	37	chr20	33868540	33868540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagagccgctcctccacccGcctaatctgcactgtgtctg	9	16	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:33868540G>A	uc002xbv.1	-	3	502	c.286C>T	c.(286-288)CGG>TGG	p.R96W	EDEM2_uc010zuv.1_5'Flank|EIF6_uc002xbx.1_Missense_Mutation_p.R96W|EIF6_uc002xbz.1_Intron|EIF6_uc002xby.1_Intron	NM_181468	NP_852133	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	96					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCCTCCACCCGCCTAATCTGC	0.587													A	33868540	G	A	33868540	3	1	104	1	0	0	0	0	1	0	0	0	5045	1086	38	1	467	1	EIF6	20	33868540	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	164929	33868540	29156980	6301	72915											
CEP250	11190	broad.mit.edu	37	chr20	34054861	34054861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgggaggttgtgacattccGacgccacttcctggaaatga	13	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:34054861G>A	uc002xcm.2	+	9	1234	c.563G>A	c.(562-564)CGA>CAA	p.R188Q	CEP250_uc010zve.1_5'UTR|CEP250_uc010gfe.1_RNA|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_5'UTR	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	188					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GTGACATTCCGACGCCACTTC	0.532													A	34054861	G	A	34054861	3	1	104	1	0	0	0	0	1	0	0	0	3252	1058	37	1	581	1	CEP250	20	34054861	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	186321	34054861	28970659	6302	72916											
CEP250	11190	broad.mit.edu	37	chr20	34099337	34099337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggcccaggcccctgaggCcactgtcctggaggcagaga	15	14	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:34099337C>T	uc002xcm.2	+	36	7882	c.7211C>T	c.(7210-7212)GCC>GTC	p.A2404V	CEP250_uc010zve.1_Missense_Mutation_p.A1772V	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	2404					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCCCCTGAGGCCACTGTCCTG	0.637													T	34099337	C	T	34099337	3	4	104	1	0	0	0	0	1	0	0	0	3252	739	26	2	7337	2	CEP250	20	34099337	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	44476	34099337	28926183	6303	72917											
SPAG4	6676	broad.mit.edu	37	chr20	34206049	34206049	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacctggtctctcctttggaGaatgtgagttggggagactg	14	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:34206049G>A	uc002xdb.1	+	5	696	c.579G>A	c.(577-579)GAG>GAA	p.E193E	SPAG4_uc010zvi.1_Silent_p.E116E	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	193					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity				0	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CTCCTTTGGAGAATGTGAGTT	0.582													A	34206049	G	A	34206049	2	1	104	1	0	0	0	0	0	0	0	1	14980	933	33	4		4	SPAG4	20	34206049	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	106712	34206049	28819471	6304	72918											
CPNE1	8904	broad.mit.edu	37	chr20	34220780	34220780	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgggtcagacttggagccGatgtccttgtcaatgagatg	14	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:34220780G>A	uc002xdf.2	-	4	429	c.66C>T	c.(64-66)ATC>ATT	p.I22I	CPNE1_uc002xdc.2_5'Flank|CPNE1_uc010zvj.1_Silent_p.I27I|CPNE1_uc002xde.2_Silent_p.I22I|CPNE1_uc002xdg.2_Silent_p.I22I|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Silent_p.I22I|CPNE1_uc002xdi.2_Silent_p.I22I|CPNE1_uc002xdj.2_Silent_p.I22I|CPNE1_uc002xdk.2_Silent_p.I22I|CPNE1_uc002xdl.2_Silent_p.I22I|CPNE1_uc002xdm.2_Silent_p.I22I|CPNE1_uc010gfk.1_Silent_p.I22I|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_RNA	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	22	C2 1.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ACTTGGAGCCGATGTCCTTGT	0.567													A	34220780	G	A	34220780	2	1	104	1	0	0	0	0	0	0	0	1	3811	1048	37	1		1	CPNE1	20	34220780	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	14731	34220780	28804740	6305	72919											
RBM12	10137	broad.mit.edu	37	chr20	34241148	34241148	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgctcttcacctcctgcActaggtattcctgcactggg	9	14	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:34241148A>G	uc002xdq.2	-	3	2329	c.2097T>C	c.(2095-2097)AGT>AGC	p.S699S	CPNE1_uc010zvj.1_Intron|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Silent_p.S699S|RBM12_uc002xds.2_Silent_p.S699S	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	699	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CACCTCCTGCACTAGGTATTC	0.532													G	34241148	A	G	34241148	2	3	104	1	0	0	0	0	0	0	0	1	13113	156	6	3		3	RBM12	20	34241148	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	20368	34241148	28784372	6306	72920											
C20orf117	140710	broad.mit.edu	37	chr20	35437145	35437145	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctctgctggtcctccttcAgctgccgggggacaagagct	12	15	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:35437145A>C	uc002xgd.1	-	8	2198	c.1871T>G	c.(1870-1872)CTG>CGG	p.L624R	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	624											0		Myeloproliferative disorder(115;0.00874)				GTCCTCCTTCAGCTGCCGGGG	0.647											OREG0025909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	35437145	A	C	35437145	3	2	104	1	0	0	0	0	1	0	0	0	2083	202	7	5	2494	5	C20orf117	20	35437145	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1195997	35437145	27588375	6307	72921											
SAMHD1	25939	broad.mit.edu	37	chr20	35539642	35539642	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtcagcttagtataggcttCcatgtcgtcaattgctgtag	10	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:35539642C>A	uc002xgh.1	-	11	1379	c.1249G>T	c.(1249-1251)GAA>TAA	p.E417*		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	417					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity				0		Myeloproliferative disorder(115;0.00878)				GTATAGGCTTCCATGTCGTCA	0.383													A	35539642	C	A	35539642	4	1	104	1	0	0	0	0	0	1	0	0	13828	864	30	5	655	5	SAMHD1	20	35539642	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	102497	35539642	27485878	6308	72922											
KIAA0406	9675	broad.mit.edu	37	chr20	36641180	36641180	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttattgcactgggcttggaTttcaggactctcatcattta	8	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:36641180T>G	uc002xhl.2	-	3	1248	c.1039A>C	c.(1039-1041)ATC>CTC	p.I347L	KIAA0406_uc002xhm.2_Missense_Mutation_p.I347L	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	347							binding				0		Myeloproliferative disorder(115;0.00874)				TGGGCTTGGATTTCAGGACTC	0.463													G	36641180	T	G	36641180	3	3	104	1	0	0	0	0	1	0	0	0	8173	1493	52	5	2258	5	KIAA0406	20	36641180	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1101538	36641180	26384340	6309	72923											
TGM2	7052	broad.mit.edu	37	chr20	36758717	36758717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtggaggcccatgtggagCggcagcaggtccattctcac	14	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:36758717C>T	uc002xhr.2	-	13	2068	c.1968G>A	c.(1966-1968)CCG>CCA	p.P656P	TGM2_uc002xhq.2_Silent_p.P257P|TGM2_uc010zvx.1_Silent_p.P575P|TGM2_uc010zvy.1_Silent_p.P596P	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	656					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CCATGTGGAGCGGCAGCAGGT	0.622													T	36758717	C	T	36758717	2	4	104	1	0	0	0	0	0	0	0	1	15827	755	27	1		1	TGM2	20	36758717	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	117537	36758717	26266803	6310	72924											
BPI	671	broad.mit.edu	37	chr20	36932692	36932692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggtcgccataggcaccGccgtgacagcggccgtcaac	13	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:36932692G>A	uc002xib.2	+	1	141	c.79G>A	c.(79-81)GCC>ACC	p.A27T		NM_001725	NP_001716	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	27					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			ovary(4)	4		Myeloproliferative disorder(115;0.00878)				CATAGGCACCGCCGTGACAGC	0.642													A	36932692	G	A	36932692	3	1	104	1	0	0	0	0	1	0	0	0	1490	1087	38	1	81	1	BPI	20	36932692	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	173975	36932692	26092828	6311	72925											
RALGAPB	57148	broad.mit.edu	37	chr20	37174905	37174905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattatgcagttgctcggcGcatttccttcacctagtggt	10	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:37174905G>A	uc002xiw.2	+	19	2991	c.2734G>A	c.(2734-2736)GCA>ACA	p.A912T	RALGAPB_uc002xix.2_Missense_Mutation_p.A908T|RALGAPB_uc002xiy.1_Missense_Mutation_p.A912T|RALGAPB_uc002xiz.2_Missense_Mutation_p.A690T|RALGAPB_uc002xja.1_Missense_Mutation_p.A639T	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	912					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						GTTGCTCGGCGCATTTCCTTC	0.423													A	37174905	G	A	37174905	3	1	104	1	0	0	0	0	1	0	0	0	13015	1087	38	1	2804	1	RALGAPB	20	37174905	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	242213	37174905	25850615	6312	72926											
ACTR5	79913	broad.mit.edu	37	chr20	37383680	37383680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattttccagcaagctcctgGgcagcactctgacctctgag	9	14	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:37383680G>A	uc002xjd.2	+	4	881	c.856G>A	c.(856-858)GGC>AGC	p.G286S		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog	286					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding				0		Myeloproliferative disorder(115;0.00878)				CAAGCTCCTGGGCAGCACTCT	0.512													A	37383680	G	A	37383680	3	1	104	1	0	0	0	0	1	0	0	0	215	1232	43	4	870	4	ACTR5	20	37383680	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	208775	37383680	25641840	6313	72927											
DHX35	60625	broad.mit.edu	37	chr20	37632517	37632517	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctttgagcaaatgaaAgtgtttgaaagggtgtcacg	11	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:37632517A>C	uc002xjh.2	+	11	989	c.978A>C	c.(976-978)AAA>AAC	p.K326N	DHX35_uc010zwa.1_Missense_Mutation_p.K171N|DHX35_uc010zwb.1_Missense_Mutation_p.K171N|DHX35_uc010zwc.1_Missense_Mutation_p.K295N	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	326	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				AGCAAATGAAAGTGTTTGAAA	0.498													C	37632517	A	C	37632517	3	2	104	1	0	0	0	0	1	0	0	0	4508	69	3	5	1020	5	DHX35	20	37632517	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	248837	37632517	25393003	6314	72928											
DHX35	60625	broad.mit.edu	37	chr20	37647465	37647465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtctggacaaagactgtcGcctaactgaaccgcttggca	11	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:37647465G>A	uc002xjh.2	+	15	1432	c.1421G>A	c.(1420-1422)CGC>CAC	p.R474H	DHX35_uc010zwa.1_Missense_Mutation_p.R319H|DHX35_uc010zwb.1_Missense_Mutation_p.R319H|DHX35_uc010zwc.1_Missense_Mutation_p.R443H	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	474						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				AAAGACTGTCGCCTAACTGAA	0.443													A	37647465	G	A	37647465	3	1	104	1	0	0	0	0	1	0	0	0	4508	1087	38	1	1479	1	DHX35	20	37647465	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	14948	37647465	25378055	6315	72929											
DHX35	60625	broad.mit.edu	37	chr20	37652368	37652368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatttgctgtggaggagggCgaccacctcactatgctcaa	11	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:37652368C>T	uc002xjh.2	+	17	1640	c.1629C>T	c.(1627-1629)GGC>GGT	p.G543G	DHX35_uc010zwa.1_Silent_p.G388G|DHX35_uc010zwb.1_Silent_p.G388G|DHX35_uc010zwc.1_Silent_p.G512G	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	543						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				TGGAGGAGGGCGACCACCTCA	0.388													T	37652368	C	T	37652368	2	4	104	1	0	0	0	0	0	0	0	1	4508	755	27	1		1	DHX35	20	37652368	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4903	37652368	25373152	6316	72930											
TOP1	7150	broad.mit.edu	37	chr20	39709828	39709828	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgattataaacctaagaaaaTtaaaacagaagataccaaga	5	5	0	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:39709828T>A	uc002xjl.2	+	7	701	c.455T>A	c.(454-456)ATT>AAT	p.I152N	TOP1_uc010gge.1_RNA	NM_003286	NP_003277	P11387	TOP1_HUMAN	DNA topoisomerase I	152	Lys-rich.				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	CCTAAGAAAATTAAAACAGAA	0.368			T	NUP98	AML*								A	39709828	T	A	39709828	3	1	104	1	0	0	0	0	1	0	0	0	16360	1493	52	5	481	5	TOP1	20	39709828	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2057460	39709828	23315692	6317	72931											
PLCG1	5335	broad.mit.edu	37	chr20	39793708	39793708	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgccgacgggctcccctcAcccaaccagcttaagaggaa	9	16	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:39793708A>C	uc002xjp.1	+	13	1474	c.1353A>C	c.(1351-1353)TCA>TCC	p.S451S	PLCG1_uc002xjo.1_Silent_p.S451S|PLCG1_uc010zwe.1_Silent_p.S77S|PLCG1_uc010ggf.2_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	451	PI-PLC X-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				GGCTCCCCTCACCCAACCAGC	0.592													C	39793708	A	C	39793708	2	2	104	1	0	0	0	0	0	0	0	1	12035	146	6	5		5	PLCG1	20	39793708	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	83880	39793708	23231812	6318	72932											
ZHX3	23051	broad.mit.edu	37	chr20	39833469	39833469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcaggcaaggtctcagCgggctgggcctccatgctgg	14	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:39833469C>T	uc002xjs.1	-	3	466	c.88G>A	c.(88-90)GCT>ACT	p.A30T	ZHX3_uc002xjq.1_Missense_Mutation_p.A30T|ZHX3_uc002xjr.1_Missense_Mutation_p.A30T|ZHX3_uc002xjt.1_Missense_Mutation_p.A30T|ZHX3_uc002xju.1_Missense_Mutation_p.A30T|ZHX3_uc002xjv.1_Missense_Mutation_p.A30T|ZHX3_uc002xjw.1_Missense_Mutation_p.A30T|ZHX3_uc010ggg.1_Missense_Mutation_p.A30T	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	30	Required for nuclear localization.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				AAGGTCTCAGCGGGCTGGGCC	0.577													T	39833469	C	T	39833469	3	4	104	1	0	0	0	0	1	0	0	0	17674	768	27	1	2790	1	ZHX3	20	39833469	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	39761	39833469	23192051	6319	72933											
LPIN3	64900	broad.mit.edu	37	chr20	39978806	39978806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacctctgtggctggcggcGtggaccctttgggactccca	13	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:39978806G>A	uc002xjx.2	+	7	962	c.871G>A	c.(871-873)GTG>ATG	p.V291M	LPIN3_uc010ggh.2_Missense_Mutation_p.V292M|LPIN3_uc010zwf.1_RNA	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	lipin 3	291					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.000739)				GGCTGGCGGCGTGGACCCTTT	0.642													A	39978806	G	A	39978806	3	1	104	1	0	0	0	0	1	0	0	0	8920	1145	40	1	893	1	LPIN3	20	39978806	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	145337	39978806	23046714	6320	72934											
LPIN3	64900	broad.mit.edu	37	chr20	39986541	39986541	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgggtacaagttcctgTactgctcggcgcgggccatt	13	10	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:39986541T>G	uc002xjx.2	+	17	2150	c.2059T>G	c.(2059-2061)TAC>GAC	p.Y687D	LPIN3_uc010ggh.2_Missense_Mutation_p.Y688D|LPIN3_uc010zwf.1_RNA	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	lipin 3	687	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.000739)				CAAGTTCCTGTACTGCTCGGC	0.622													G	39986541	T	G	39986541	3	3	104	1	0	0	0	0	1	0	0	0	8920	1638	57	5	2121	5	LPIN3	20	39986541	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	7735	39986541	23038979	6321	72935											
EMILIN3	90187	broad.mit.edu	37	chr20	39991292	39991292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccagagtcggtgcagccgtCggtccacgtactcctccagc	11	17	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:39991292C>T	uc002xjy.1	-	4	1141	c.917G>A	c.(916-918)CGA>CAA	p.R306Q		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	306						proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)				GTGCAGCCGTCGGTCCACGTA	0.677													T	39991292	C	T	39991292	3	4	104	1	0	0	0	0	1	0	0	0	5095	884	31	1	1387	1	EMILIN3	20	39991292	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4751	39991292	23034228	6322	72936											
PTPRT	11122	broad.mit.edu	37	chr20	40713337	40713337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacaggcagtggaccacaGtacgtccctccctcccgtca	8	18	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:40713337G>A	uc002xkg.2	-	29	4305	c.4121C>T	c.(4120-4122)ACT>ATT	p.T1374I	PTPRT_uc010ggj.2_Missense_Mutation_p.T1393I|PTPRT_uc010ggi.2_Missense_Mutation_p.T577I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1374	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)				GTGGACCACAGTACGTCCCTC	0.607													A	40713337	G	A	40713337	3	1	104	1	0	0	0	0	1	0	0	0	12812	1029	36	4	216	4	PTPRT	20	40713337	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	722045	40713337	22312183	6323	72937											
PTPRT	11122	broad.mit.edu	37	chr20	40911144	40911144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cataccttttgtagccagacGaacacagttgattttggtct	8	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:40911144G>A	uc002xkg.2	-	13	2345	c.2161C>T	c.(2161-2163)CGT>TGT	p.R721C	PTPRT_uc010ggj.2_Missense_Mutation_p.R721C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	721	Extracellular (Potential).|Fibronectin type-III 4.				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)				GTAGCCAGACGAACACAGTTG	0.348													A	40911144	G	A	40911144	3	1	104	1	0	0	0	0	1	0	0	0	12812	1058	37	1	2301	1	PTPRT	20	40911144	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	197807	40911144	22114376	6324	72938											
PTPRT	11122	broad.mit.edu	37	chr20	41306583	41306583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggtcgtgtgaggagcactCggatctcatactcaacatcg	11	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:41306583C>T	uc002xkg.2	-	7	1260	c.1076G>A	c.(1075-1077)CGA>CAA	p.R359Q	PTPRT_uc010ggj.2_Missense_Mutation_p.R359Q	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	359	Extracellular (Potential).|Fibronectin type-III 1.				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)				GAGGAGCACTCGGATCTCATA	0.567													T	41306583	C	T	41306583	3	4	104	1	0	0	0	0	1	0	0	0	12812	884	31	1	3410	1	PTPRT	20	41306583	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	395439	41306583	21718937	6325	72939											
MYBL2	4605	broad.mit.edu	37	chr20	42331534	42331534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttaagaccctgcccttctcGccctcccaggtgcgtggacc	10	17	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:42331534G>A	uc002xlb.1	+	8	1571	c.1356G>A	c.(1354-1356)TCG>TCA	p.S452S	MYBL2_uc010zwj.1_Silent_p.S428S|MYBL2_uc002xla.1_Silent_p.S452S	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	452						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGCCCTTCTCGCCCTCCCAGG	0.428													A	42331534	G	A	42331534	2	1	104	1	0	0	0	0	0	0	0	1	10010	1074	38	1		1	MYBL2	20	42331534	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1024951	42331534	20693986	6326	72940											
TOX2	84969	broad.mit.edu	37	chr20	42680169	42680169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccactcaggaagaggagtCggaagtgcatttcaaggtat	12	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:42680169C>T	uc002xlf.3	+	4	679	c.662C>T	c.(661-663)TCG>TTG	p.S221L	TOX2_uc010ggo.2_Missense_Mutation_p.S212L|TOX2_uc002xle.3_Missense_Mutation_p.S170L|TOX2_uc010ggp.2_Missense_Mutation_p.S170L|TOX2_uc002xlg.2_Missense_Mutation_p.S170L|TOX2_uc010zwk.1_Missense_Mutation_p.S90L	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GAAGAGGAGTCGGAAGTGCAT	0.632													T	42680169	C	T	42680169	3	4	104	1	0	0	0	0	1	0	0	0	16375	893	31	1	779	1	TOX2	20	42680169	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	348635	42680169	20345351	6327	72941											
HNF4A	3172	broad.mit.edu	37	chr20	43057088	43057088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccactcacctcagcaacGgacagatgtgtgagtggccc	11	14	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:43057088G>A	uc002xma.2	+	9	1332	c.1243G>A	c.(1243-1245)GGA>AGA	p.G415R	HNF4A_uc002xlu.2_Missense_Mutation_p.G393R|HNF4A_uc002xlv.2_Missense_Mutation_p.G393R|HNF4A_uc002xlz.2_Missense_Mutation_p.G415R|HNF4A_uc010ggq.2_Missense_Mutation_p.G408R	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	415					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCTCAGCAACGGACAGATGTG	0.582													A	43057088	G	A	43057088	3	1	104	1	0	0	0	0	1	0	0	0	7253	1117	39	1	1455	1	HNF4A	20	43057088	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	376919	43057088	19968432	6328	72942											
RBPJL	11317	broad.mit.edu	37	chr20	43940866	43940866	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtgagccccctaggaattCggctgcgccaagaccctgta	11	14	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:43940866C>T	uc002xns.2	+	6	522	c.450C>T	c.(448-450)TTC>TTT	p.F150F	RBPJL_uc002xnt.2_Silent_p.F150F	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	recombining binding protein L	150					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CCTAGGAATTCGGCTGCGCCA	0.542											OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	43940866	C	T	43940866	2	4	104	1	0	0	0	0	0	0	0	1	13162	883	31	1		1	RBPJL	20	43940866	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	883778	43940866	19084654	6329	72943											
TP53TG5	27296	broad.mit.edu	37	chr20	44003970	44003970	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatccctcgatgtccttggAacctcaggctctatatgctt	7	13	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:44003970A>C	uc002xny.2	-	4	558	c.477T>G	c.(475-477)GTT>GTG	p.V159V	SYS1_uc002xnw.1_3'UTR|SYS1-DBNDD2_uc002xnx.2_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	TP53-target gene 5 protein	159					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)	1						ATGTCCTTGGAACCTCAGGCT	0.537													C	44003970	A	C	44003970	2	2	104	1	0	0	0	0	0	0	0	1	16388	233	9	5		5	TP53TG5	20	44003970	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	63104	44003970	19021550	6330	72944											
WFDC8	90199	broad.mit.edu	37	chr20	44180804	44180804	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcagaaaccttttttgActttatggggtaaaagaaaa	11	4	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:44180804A>C	uc002xow.2	-	6	666	c.587T>G	c.(586-588)GTC>GGC	p.V196G	WFDC8_uc002xox.2_Missense_Mutation_p.V196G	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8 precursor	196	WAP 3.					extracellular region	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)				ACCTTTTTTGACTTTATGGGG	0.413													C	44180804	A	C	44180804	3	2	104	1	0	0	0	0	1	0	0	0	17353	289	10	5	142	5	WFDC8	20	44180804	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	176834	44180804	18844716	6331	72945											
WFDC10A	140832	broad.mit.edu	37	chr20	44259601	44259601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctcaccgagattgtcaaGcaaataacatatgctgttct	6	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:44259601G>A	uc002xoz.2	+	2	252	c.184G>A	c.(184-186)GCA>ACA	p.A62T	WFDC9_uc002xoy.2_Intron	NM_080753	NP_542791	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A precursor	62	WAP.					extracellular region	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)				AGATTGTCAAGCAAATAACAT	0.463													A	44259601	G	A	44259601	3	1	104	1	0	0	0	0	1	0	0	0	17344	971	34	2	190	2	WFDC10A	20	44259601	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	78797	44259601	18765919	6332	72946											
ZSWIM1	90204	broad.mit.edu	37	chr20	44512035	44512035	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acccacatcctcagccagttCtttggtaccaccccatctga	5	17	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:44512035C>A	uc010ghi.2	+	2	917	c.804C>A	c.(802-804)TTC>TTA	p.F268L	ZSWIM1_uc010zxh.1_Missense_Mutation_p.F141L	NM_080603	NP_542170	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	268							zinc ion binding			skin(1)	1		Myeloproliferative disorder(115;0.028)				TCAGCCAGTTCTTTGGTACCA	0.557													A	44512035	C	A	44512035	3	1	104	1	0	0	0	0	1	0	0	0	18237	912	32	5	806	5	ZSWIM1	20	44512035	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	252434	44512035	18513485	6333	72947											
PCIF1	63935	broad.mit.edu	37	chr20	44569552	44569552	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtcccctgaagataaacaGcaggcagctctcctacgacc	8	15	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:44569552G>A	uc002xqs.2	+	6	806	c.492G>A	c.(490-492)CAG>CAA	p.Q164Q		NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	164						nucleus				skin(1)	1						AAGATAAACAGCAGGCAGCTC	0.597													A	44569552	G	A	44569552	2	1	104	1	0	0	0	0	0	0	0	1	11580	962	34	2		2	PCIF1	20	44569552	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	57517	44569552	18455968	6334	72948											
ZNF334	55713	broad.mit.edu	37	chr20	45129982	45129982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaaagtttgatttgtggcGaaatgttttctcacatttgt	9	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:45129982G>A	uc002xsc.2	-	5	2180	c.1996C>T	c.(1996-1998)CGC>TGC	p.R666C	ZNF334_uc002xsa.2_Missense_Mutation_p.R689C|ZNF334_uc002xsb.2_Missense_Mutation_p.R628C|ZNF334_uc002xsd.2_Missense_Mutation_p.R628C|ZNF334_uc010ghl.2_Missense_Mutation_p.R665C	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	666	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				GATTTGTGGCGAAATGTTTTC	0.358													A	45129982	G	A	45129982	3	1	104	1	0	0	0	0	1	0	0	0	17848	1058	37	1	50	1	ZNF334	20	45129982	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	560430	45129982	17895538	6335	72949											
ZNF334	55713	broad.mit.edu	37	chr20	45131024	45131024	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcattacactcataggatttCtcccctccatgaattttctg	4	12	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:45131024C>T	uc002xsc.2	-	5	1138	c.954G>A	c.(952-954)GAG>GAA	p.E318E	ZNF334_uc002xsa.2_Silent_p.E341E|ZNF334_uc002xsb.2_Silent_p.E280E|ZNF334_uc002xsd.2_Silent_p.E280E|ZNF334_uc010ghl.2_Silent_p.E317E	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				CATAGGATTTCTCCCCTCCAT	0.438													T	45131024	C	T	45131024	2	4	104	1	0	0	0	0	0	0	0	1	17848	912	32	4		4	ZNF334	20	45131024	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1042	45131024	17894496	6336	72950											
SLC2A10	81031	broad.mit.edu	37	chr20	45354909	45354909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcactgctgcgctggaccGcactgctgtgcctgatggtc	13	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:45354909G>A	uc002xsl.2	+	2	1331	c.1234G>A	c.(1234-1236)GCA>ACA	p.A412T		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	412	Extracellular (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GCGCTGGACCGCACTGCTGTG	0.632													A	45354909	G	A	45354909	3	1	104	1	0	0	0	0	1	0	0	0	14539	1087	38	1	1240	1	SLC2A10	20	45354909	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	223885	45354909	17670611	6337	72951											
ZMYND8	23613	broad.mit.edu	37	chr20	45912344	45912344	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaaaccagttatctcgttTttggcaagcagctagataac	7	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:45912344T>G	uc002xta.1	-	9	1047	c.793A>C	c.(793-795)AAA>CAA	p.K265Q	ZMYND8_uc010ghr.1_Missense_Mutation_p.K240Q|ZMYND8_uc002xst.1_Missense_Mutation_p.K240Q|ZMYND8_uc002xsu.1_Missense_Mutation_p.K265Q|ZMYND8_uc002xsv.1_Missense_Mutation_p.K240Q|ZMYND8_uc002xsw.1_Missense_Mutation_p.K17Q|ZMYND8_uc002xsx.1_Missense_Mutation_p.K17Q|ZMYND8_uc002xsy.1_Missense_Mutation_p.K240Q|ZMYND8_uc002xsz.1_Missense_Mutation_p.K202Q|ZMYND8_uc010zxy.1_Missense_Mutation_p.K292Q|ZMYND8_uc002xtb.1_Missense_Mutation_p.K285Q|ZMYND8_uc002xss.2_Missense_Mutation_p.K265Q|ZMYND8_uc010zxz.1_Missense_Mutation_p.K260Q|ZMYND8_uc002xtc.1_Missense_Mutation_p.K285Q|ZMYND8_uc002xtd.1_Missense_Mutation_p.K260Q|ZMYND8_uc002xte.1_Missense_Mutation_p.K265Q|ZMYND8_uc010zya.1_Missense_Mutation_p.K265Q|ZMYND8_uc002xtf.1_Missense_Mutation_p.K285Q|ZMYND8_uc002xtg.2_Missense_Mutation_p.K259Q|ZMYND8_uc010ghs.1_Missense_Mutation_p.K259Q	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	265							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTATCTCGTTTTTGGCAAGCA	0.398													G	45912344	T	G	45912344	3	3	104	1	0	0	0	0	1	0	0	0	17708	1850	64	5	2773	5	ZMYND8	20	45912344	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	557435	45912344	17113176	6338	72952											
NCOA3	8202	broad.mit.edu	37	chr20	46264088	46264088	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacagaatggatatagaccaAacccaaatcctgttggacaa	7	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:46264088A>G	uc002xtk.2	+	11	1340	c.1135A>G	c.(1135-1137)AAC>GAC	p.N379D	NCOA3_uc010ght.1_Missense_Mutation_p.N389D|NCOA3_uc002xtl.2_Missense_Mutation_p.N379D|NCOA3_uc002xtm.2_Missense_Mutation_p.N379D|NCOA3_uc002xtn.2_Missense_Mutation_p.N379D|NCOA3_uc010zyc.1_Missense_Mutation_p.N174D	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	379					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						ATATAGACCAAACCCAAATCC	0.388													G	46264088	A	G	46264088	3	3	104	1	0	0	0	0	1	0	0	0	10230	14	1	3	1199	3	NCOA3	20	46264088	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	351744	46264088	16761432	6339	72953											
ARFGEF2	10564	broad.mit.edu	37	chr20	47588912	47588912	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttagaaacatcaacaagttCttttgagcacaggtggatgg	10	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:47588912C>A	uc002xtx.3	+	11	1627	c.1475C>A	c.(1474-1476)TCT>TAT	p.S492Y		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	492					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCAACAAGTTCTTTTGAGCAC	0.403													A	47588912	C	A	47588912	3	1	104	1	0	0	0	0	1	0	0	0	853	913	32	5	1517	5	ARFGEF2	20	47588912	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1324824	47588912	15436608	6340	72954											
STAU1	6780	broad.mit.edu	37	chr20	47734395	47734395	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggggtacgtggcctgaagaGatgttattctttaaaatggt	13	4	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:47734395G>T	uc002xud.2	-	11	1839	c.1428C>A	c.(1426-1428)ATC>ATA	p.I476I	STAU1_uc002xua.2_Silent_p.I395I|STAU1_uc002xub.2_Silent_p.I401I|STAU1_uc002xuc.2_Silent_p.I395I|STAU1_uc002xue.2_Silent_p.I395I|STAU1_uc002xuf.2_Silent_p.I401I|STAU1_uc002xug.2_Silent_p.I476I	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	476						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GGCCTGAAGAGATGTTATTCT	0.547													T	47734395	G	T	47734395	2	4	104	1	0	0	0	0	0	0	0	1	15271	932	33	5		5	STAU1	20	47734395	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	145483	47734395	15291125	6341	72955											
STAU1	6780	broad.mit.edu	37	chr20	47782660	47782660	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catcaaaggctgtgagagaaGagactggttcttgttcagta	12	6	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:47782660G>A	uc002xud.2	-	3	490	c.79C>T	c.(79-81)CTT>TTT	p.L27F	STAU1_uc002xua.2_Intron|STAU1_uc002xub.2_Intron|STAU1_uc002xuc.2_Intron|STAU1_uc002xue.2_Intron|STAU1_uc002xuf.2_Intron|STAU1_uc002xug.2_Missense_Mutation_p.L27F	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	27						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TGTGAGAGAAGAGACTGGTTC	0.448													A	47782660	G	A	47782660	3	1	104	1	0	0	0	0	1	0	0	0	15271	942	33	4	1720	4	STAU1	20	47782660	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	48265	47782660	15242860	6342	72956											
DDX27	55661	broad.mit.edu	37	chr20	47851485	47851485	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgccagctttgttgacgagGaccttcactgaccatgtgat	10	11	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:47851485G>T	uc002xuh.2	+	12	1441	c.1380G>T	c.(1378-1380)AGG>AGT	p.R460S		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	460	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			kidney(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGTTGACGAGGACCTTCACTG	0.552													T	47851485	G	T	47851485	3	4	104	1	0	0	0	0	1	0	0	0	4354	1165	41	5	1426	5	DDX27	20	47851485	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	68825	47851485	15174035	6343	72957											
ZNFX1	57169	broad.mit.edu	37	chr20	47886956	47886956	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttagatacggtggcaaaaaGaaatgtctcgaagttgtcct	11	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:47886956G>T	uc002xui.2	-	3	1640	c.1393C>A	c.(1393-1395)CTT>ATT	p.L465I		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	465							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTGGCAAAAAGAAATGTCTCG	0.473													T	47886956	G	T	47886956	3	4	104	1	0	0	0	0	1	0	0	0	18202	942	33	5	4411	5	ZNFX1	20	47886956	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	35471	47886956	15138564	6344	72958											
KCNG1	3755	broad.mit.edu	37	chr20	49626348	49626348	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccgctccaccatctccgcGaactcctcaatcttctgcag	5	19	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:49626348G>A	uc002xwa.3	-	2	823	c.528C>T	c.(526-528)TTC>TTT	p.F176F	KCNG1_uc002xwb.2_Silent_p.F176F	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	176	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						CCATCTCCGCGAACTCCTCAA	0.706													A	49626348	G	A	49626348	2	1	104	1	0	0	0	0	0	0	0	1	8027	1049	37	1		1	KCNG1	20	49626348	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1739392	49626348	13399172	6345	72959											
KCNG1	3755	broad.mit.edu	37	chr20	49626531	49626531	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccgggttgcggtcgaagaaGaactcgttgcaggtgacgtc	15	10	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:49626531G>T	uc002xwa.3	-	2	640	c.345C>A	c.(343-345)TTC>TTA	p.F115L	KCNG1_uc002xwb.2_Missense_Mutation_p.F115L	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	115	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						GGTCGAAGAAGAACTCGTTGC	0.642													T	49626531	G	T	49626531	3	4	104	1	0	0	0	0	1	0	0	0	8027	933	33	5	1204	5	KCNG1	20	49626531	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	183	49626531	13398989	6346	72960											
ZNF217	7764	broad.mit.edu	37	chr20	52199171	52199171	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgcagaacatgcaatcCaagggcatatacccctcgat	9	12	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:52199171C>T	uc002xwq.3	-	1	466	c.195G>A	c.(193-195)TTG>TTA	p.L65L	ZNF217_uc010gij.1_Silent_p.L57L	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	65	C2H2-type 1.				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			ACATGCAATCCAAGGGCATAT	0.463													T	52199171	C	T	52199171	2	4	104	1	0	0	0	0	0	0	0	1	17769	593	21	4		4	ZNF217	20	52199171	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2572640	52199171	10826349	6347	72961											
CYP24A1	1591	broad.mit.edu	37	chr20	52773812	52773812	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgtctgtggcctggatgTcgtatttgcggacaatctgt	12	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:52773812T>C	uc002xwv.2	-	11	1849	c.1451A>G	c.(1450-1452)GAC>GGC	p.D484G	CYP24A1_uc002xwu.1_Missense_Mutation_p.D342G|CYP24A1_uc002xww.2_Missense_Mutation_p.D418G	NM_000782	NP_000773	Q07973	CP24A_HUMAN	cytochrome P450 family 24 subfamily A	484					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GGCCTGGATGTCGTATTTGCG	0.507													C	52773812	T	C	52773812	3	2	104	1	0	0	0	0	1	0	0	0	4154	1667	58	3	97	3	CYP24A1	20	52773812	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	574641	52773812	10251708	6348	72962											
DOK5	55816	broad.mit.edu	37	chr20	53171512	53171512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtattcaagaaagcttcaaGcaaaggtccaaaaagactgg	9	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:53171512G>A	uc002xwy.2	+	2	327	c.107G>A	c.(106-108)AGC>AAC	p.S36N	DOK5_uc010gin.2_5'UTR|DOK5_uc002xwz.2_5'UTR	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	docking protein 5	36	PH.						insulin receptor binding			ovary(1)	1			Colorectal(105;0.202)			AAAGCTTCAAGCAAAGGTCCA	0.388													A	53171512	G	A	53171512	3	1	104	1	0	0	0	0	1	0	0	0	4700	971	34	2	113	2	DOK5	20	53171512	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	397700	53171512	9854008	6349	72963											
CASS4	57091	broad.mit.edu	37	chr20	55027827	55027827	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctaccgcatcctgcttgAaacaaaggaaagcttggata	8	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:55027827A>G	uc002xxp.2	+	6	1820	c.1595A>G	c.(1594-1596)GAA>GGA	p.E532G	CASS4_uc002xxq.3_Missense_Mutation_p.E532G|CASS4_uc002xxr.2_Missense_Mutation_p.E532G|CASS4_uc010zze.1_Missense_Mutation_p.E478G|CASS4_uc010gio.2_Intron	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	532					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						ATCCTGCTTGAAACAAAGGAA	0.498													G	55027827	A	G	55027827	3	3	104	1	0	0	0	0	1	0	0	0	2683	246	9	3	1613	3	CASS4	20	55027827	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1856315	55027827	7997693	6350	72964											
BMP7	655	broad.mit.edu	37	chr20	55758796	55758796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgccacgttggccatccGcagggcttcctggttcttgg	12	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:55758796G>A	uc010gip.1	-	4	1469	c.940C>T	c.(940-942)CGG>TGG	p.R314W	BMP7_uc010giq.1_Intron|BMP7_uc002xyc.2_Missense_Mutation_p.R314W	NM_001719	NP_001710	P18075	BMP7_HUMAN	bone morphogenetic protein 7 precursor	314					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			skin(1)	1	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TTGGCCATCCGCAGGGCTTCC	0.647													A	55758796	G	A	55758796	3	1	104	1	0	0	0	0	1	0	0	0	1465	1086	38	1	371	1	BMP7	20	55758796	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	730969	55758796	7266724	6351	72965											
BMP7	655	broad.mit.edu	37	chr20	55840835	55840835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggctggccagaggggggCcctgggtactgaagacggcc	19	11	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:55840835C>T	uc010gip.1	-	1	873	c.344G>A	c.(343-345)GGC>GAC	p.G115D	BMP7_uc010giq.1_Missense_Mutation_p.G115D|BMP7_uc002xyc.2_Missense_Mutation_p.G115D|uc010gir.1_5'Flank	NM_001719	NP_001710	P18075	BMP7_HUMAN	bone morphogenetic protein 7 precursor	115					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			skin(1)	1	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CAGAGGGGGGCCCTGGGTACT	0.647													T	55840835	C	T	55840835	3	4	104	1	0	0	0	0	1	0	0	0	1465	739	26	2	979	2	BMP7	20	55840835	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	82039	55840835	7184685	6352	72966											
SPO11	23626	broad.mit.edu	37	chr20	55904928	55904928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccgtctgccctcatggCctttgcacctatggggcccg	12	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:55904928C>T	uc002xye.2	+	1	98	c.5C>T	c.(4-6)GCC>GTC	p.A2V	SPO11_uc002xyf.2_Missense_Mutation_p.A2V	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	meiotic recombination protein SPO11 isoform a	2					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			breast(2)|skin(1)	3	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			GCCCTCATGGCCTTTGCACCT	0.672								Editing_and_processing_nucleases					T	55904928	C	T	55904928	3	4	104	1	0	0	0	0	1	0	0	0	15076	739	26	2	7	2	SPO11	20	55904928	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	64093	55904928	7120592	6353	72967											
PCK1	5105	broad.mit.edu	37	chr20	56139347	56139347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caatctttaccaatgtggccGagaccagcgacgggggcgtt	13	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:56139347G>A	uc002xyn.3	+	7	1247	c.1084G>A	c.(1084-1086)GAG>AAG	p.E362K	PCK1_uc010zzm.1_Missense_Mutation_p.E45K	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	362					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			skin(1)	1	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CAATGTGGCCGAGACCAGCGA	0.522													A	56139347	G	A	56139347	3	1	104	1	0	0	0	0	1	0	0	0	11581	1059	37	1	1106	1	PCK1	20	56139347	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	234419	56139347	6886173	6354	72968											
NPEPL1	79716	broad.mit.edu	37	chr20	57273784	57273784	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcggctagcagcccgcatCgtggacacaccctgcaatga	12	14	0	1	rs113729823		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:57273784C>T	uc010zzs.1	+	4	647	c.552C>T	c.(550-552)ATC>ATT	p.I184I	NPEPL1_uc010zzr.1_Silent_p.I136I|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Silent_p.I156I|NPEPL1_uc002xzp.2_Silent_p.I72I	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	184					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity				0	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CAGCCCGCATCGTGGACACAC	0.607													T	57273784	C	T	57273784	2	4	104	1	0	0	0	0	0	0	0	1	10574	874	31	1		1	NPEPL1	20	57273784	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1134437	57273784	5751736	6355	72969											
GNAS	2778	broad.mit.edu	37	chr20	57428544	57428544	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggacccccagaggtctccaGacccaactttcaggtcctca	8	16	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:57428544G>T	uc002xzw.2	+	1	509	c.224G>T	c.(223-225)AGA>ATA	p.R75I	GNASAS_uc002xzs.1_5'Flank|GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GAGGTCTCCAGACCCAACTTT	0.617			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			T	57428544	G	T	57428544	3	4	104	1	0	0	0	0	1	0	0	0	6510	942	33	5	968	5	GNAS	20	57428544	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	154760	57428544	5596976	6356	72970											
GNAS	2778	broad.mit.edu	37	chr20	57429085	57429085	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcgacggcagcagccagttCgcggcagtcgcggcctcgag	16	14	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:57429085C>T	uc002xzw.2	+	1	1050	c.765C>T	c.(763-765)TTC>TTT	p.F255F	GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCAGCCAGTTCGCGGCAGTCG	0.662			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			T	57429085	C	T	57429085	2	4	104	1	0	0	0	0	0	0	0	1	6510	893	31	1		1	GNAS	20	57429085	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	541	57429085	5596435	6357	72971											
TH1L	51497	broad.mit.edu	37	chr20	57568761	57568761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctgttgtcagttacatccGaaagtgtctggagaagctgg	12	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:57568761G>A	uc002yag.2	+	13	1577	c.1550G>A	c.(1549-1551)CGA>CAA	p.R517Q	TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Intron	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	517					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)		Colorectal(105;0.109)			AGTTACATCCGAAAGTGTCTG	0.458													A	57568761	G	A	57568761	3	1	104	1	0	0	0	0	1	0	0	0	15836	1058	37	1	1600	1	TH1L	20	57568761	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	139676	57568761	5456759	6358	72972											
PHACTR3	116154	broad.mit.edu	37	chr20	58411601	58411601	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgtggaagagctggagagaaGaaatatcttgaaacgtgagt	14	4	1	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:58411601G>T	uc002yau.2	+	9	1837	c.1370G>T	c.(1369-1371)AGA>ATA	p.R457I	PHACTR3_uc002yat.2_Missense_Mutation_p.R454I|PHACTR3_uc010zzw.1_Missense_Mutation_p.R416I|PHACTR3_uc002yav.2_Missense_Mutation_p.R416I|PHACTR3_uc002yaw.2_Missense_Mutation_p.R416I|PHACTR3_uc002yax.2_Missense_Mutation_p.R346I|PHACTR3_uc002yay.2_Missense_Mutation_p.R26I	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	457	RPEL 3.|Required for PP1CA binding and inhibition of PP1 activity.|Potential.					nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTGGAGAGAAGAAATATCTTG	0.483													T	58411601	G	T	58411601	3	4	104	1	0	0	0	0	1	0	0	0	11811	942	33	5	1404	5	PHACTR3	20	58411601	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	842840	58411601	4613919	6359	72973											
SYCP2	10388	broad.mit.edu	37	chr20	58452530	58452530	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttatagtttttttttgtTttggttgcttttcgtggaag	9	3	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:58452530T>G	uc002yaz.2	-	32	3199	c.3060A>C	c.(3058-3060)AAA>AAC	p.K1020N		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1020					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTTTTTTTGTTTTGGTTGCTT	0.323													G	58452530	T	G	58452530	3	3	104	1	0	0	0	0	1	0	0	0	15429	1838	64	5	1584	5	SYCP2	20	58452530	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	40929	58452530	4572990	6360	72974											
SYCP2	10388	broad.mit.edu	37	chr20	58467111	58467111	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttctctgcttttctatgActttgcacatttttgctagc	5	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:58467111A>G	uc002yaz.2	-	23	2437	c.2298T>C	c.(2296-2298)AGT>AGC	p.S766S		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	766					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTTTTCTATGACTTTGCACAT	0.333													G	58467111	A	G	58467111	2	3	104	1	0	0	0	0	0	0	0	1	15429	272	10	3		3	SYCP2	20	58467111	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	14581	58467111	4558409	6361	72975											
SYCP2	10388	broad.mit.edu	37	chr20	58476794	58476794	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcaaaatacaaaagcaattCtttcccttctcttttgctaa	3	10	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:58476794C>A	uc002yaz.2	-	15	1244	c.1105G>T	c.(1105-1107)GAA>TAA	p.E369*	SYCP2_uc010gju.1_Nonsense_Mutation_p.E270*	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	369					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AAAAGCAATTCTTTCCCTTCT	0.289													A	58476794	C	A	58476794	4	1	104	1	0	0	0	0	0	1	0	0	15429	922	32	5	3607	5	SYCP2	20	58476794	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	9683	58476794	4548726	6362	72976											
CDH26	60437	broad.mit.edu	37	chr20	58544061	58544061	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcaacaggaaacagatgatCttactaagcaaacaaaggtg	8	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:58544061C>A	uc002ybe.2	+	2	409	c.109C>A	c.(109-111)CTT>ATT	p.L37I	CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	37	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AACAGATGATCTTACTAAGCA	0.318													A	58544061	C	A	58544061	3	1	104	1	0	0	0	0	1	0	0	0	3110	913	32	5	115	5	CDH26	20	58544061	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	67267	58544061	4481459	6363	72977											
CDH4	1002	broad.mit.edu	37	chr20	60503305	60503305	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatctcattgacatcaacgAcaacgcccctgagctgctgc	7	15	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:60503305A>G	uc002ybn.1	+	12	1843	c.1829A>G	c.(1828-1830)GAC>GGC	p.D610G	CDH4_uc002ybp.1_Missense_Mutation_p.D536G	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	610	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GACATCAACGACAACGCCCCT	0.627													G	60503305	A	G	60503305	3	3	104	1	0	0	0	0	1	0	0	0	3112	275	10	3	1875	3	CDH4	20	60503305	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1959244	60503305	2522215	6364	72978											
SLCO4A1	28231	broad.mit.edu	37	chr20	61299452	61299452	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgcacttcaacttgtcagaGaaagcccctccttctggttt	7	12	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:61299452G>T	uc002ydb.1	+	9	1932	c.1727G>T	c.(1726-1728)AGA>ATA	p.R576I	SLCO4A1_uc002ydc.1_Intron|LOC100127888_uc002ydd.2_5'Flank|SLCO4A1_uc002yde.1_Intron	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family	576	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(1)	1	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			ACTTGTCAGAGAAAGCCCCTC	0.493											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	61299452	G	T	61299452	3	4	104	1	0	0	0	0	1	0	0	0	14729	942	33	5	1757	5	SLCO4A1	20	61299452	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	796147	61299452	1726068	6365	72979											
TCFL5	10732	broad.mit.edu	37	chr20	61491643	61491643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcattagttcagatggatgtCgaatgagagttaccaaactg	10	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:61491643C>T	uc002ydp.2	-	2	758	c.665G>A	c.(664-666)CGA>CAA	p.R222Q	TCFL5_uc002ydo.2_5'UTR|TCFL5_uc002ydq.2_Missense_Mutation_p.R222Q	NM_006602	NP_006593	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 protein	222					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1	Breast(26;5.68e-08)					AGATGGATGTCGAATGAGAGT	0.428													T	61491643	C	T	61491643	3	4	104	1	0	0	0	0	1	0	0	0	15696	884	31	1	857	1	TCFL5	20	61491643	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	192191	61491643	1533877	6366	72980											
DIDO1	11083	broad.mit.edu	37	chr20	61513394	61513394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgctgttttggaagcagacGaagcggtggaggaagctgcc	16	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:61513394G>A	uc002ydr.1	-	16	4178	c.3914C>T	c.(3913-3915)TCG>TTG	p.S1305L	DIDO1_uc002yds.1_Missense_Mutation_p.S1305L	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1305					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GGAAGCAGACGAAGCGGTGGA	0.597													A	61513394	G	A	61513394	3	1	104	1	0	0	0	0	1	0	0	0	4522	1059	37	1	2812	1	DIDO1	20	61513394	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	21751	61513394	1512126	6367	72981											
COL20A1	57642	broad.mit.edu	37	chr20	61936897	61936897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgggcgcttcctgctagctCggagggagtttgtgagtaag	16	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:61936897C>T	uc011aau.1	+	4	422	c.322C>T	c.(322-324)CGG>TGG	p.R108W	COL20A1_uc011aav.1_5'Flank	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	108	Fibronectin type-III 1.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					CCTGCTAGCTCGGAGGGAGTT	0.652													T	61936897	C	T	61936897	3	4	104	1	0	0	0	0	1	0	0	0	3679	875	31	1	332	1	COL20A1	20	61936897	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	423503	61936897	1088623	6368	72982											
CHRNA4	1137	broad.mit.edu	37	chr20	61981912	61981912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagcaggaagacggtgagcGacagcagcacggagatgcac	16	10	0	3	rs28931591		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:61981912G>A	uc002yes.2	-	5	1029	c.851C>T	c.(850-852)TCG>TTG	p.S284L	CHRNA4_uc002yet.1_Missense_Mutation_p.S108L|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.S213L|CHRNA4_uc002yev.1_Missense_Mutation_p.S108L|CHRNA4_uc010gkf.1_Missense_Mutation_p.S108L	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	284	Helical; (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GACGGTGAGCGACAGCAGCAC	0.587													A	61981912	G	A	61981912	3	1	104	1	0	0	0	0	1	0	0	0	3385	1059	37	1	1040	1	CHRNA4	20	61981912	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	45015	61981912	1043608	6369	72983											
UCKL1	54963	broad.mit.edu	37	chr20	62572374	62572374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttggagtagaagatgaactCgtcgcgactggtctccttgt	12	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:62572374C>T	uc010gkn.2	-	10	1088	c.1045G>A	c.(1045-1047)GAG>AAG	p.E349K	UCKL1_uc002yhj.2_5'UTR|UCKL1_uc011abm.1_Missense_Mutation_p.E334K|UCKL1_uc011abn.1_RNA|UCKL1_uc011abo.1_RNA	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	349					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AAGATGAACTCGTCGCGACTG	0.652													T	62572374	C	T	62572374	3	4	104	1	0	0	0	0	1	0	0	0	16922	893	31	1	625	1	UCKL1	20	62572374	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	590462	62572374	453146	6370	72984											
ZNF512B	57473	broad.mit.edu	37	chr20	62595509	62595509	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttccgggcgtcctcaggGcctggcccctcctgcttctt	10	17	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:62595509G>A	uc002yhl.1	-	8	1449	c.1395C>T	c.(1393-1395)GGC>GGT	p.G465G		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGTCCTCAGGGCCTGGCCCCT	0.662													A	62595509	G	A	62595509	2	1	104	1	0	0	0	0	0	0	0	1	17954	1190	42	2		2	ZNF512B	20	62595509	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	23135	62595509	430011	6371	72985											
PRPF6	24148	broad.mit.edu	37	chr20	62624781	62624781	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcaaagggagaaagaagaAatagagaaatatcgtatgga	13	2	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:62624781A>C	uc002yho.2	+	4	549	c.381A>C	c.(379-381)GAA>GAC	p.E127D	PRPF6_uc002yhp.2_Missense_Mutation_p.E127D	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	127					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					AGAAAGAAGAAATAGAGAAAT	0.423													C	62624781	A	C	62624781	3	2	104	1	0	0	0	0	1	0	0	0	12574	11	1	5	395	5	PRPF6	20	62624781	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	29272	62624781	400739	6372	72986											
MYT1	4661	broad.mit.edu	37	chr20	62831255	62831255	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttttcccaggacccccagaGaccacagctgcagacctcag	8	16	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:62831255G>T	uc002yii.2	+	4	430	c.66G>T	c.(64-66)GAG>GAT	p.E22D	MYT1_uc002yih.2_Missense_Mutation_p.E22D	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	22					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GACCCCCAGAGACCACAGCTG	0.478													T	62831255	G	T	62831255	3	4	104	1	0	0	0	0	1	0	0	0	10106	933	33	5	72	5	MYT1	20	62831255	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	206474	62831255	194265	6373	72987											
MYT1	4661	broad.mit.edu	37	chr20	62837075	62837075	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggacgcctctgtttcggatGaatcggaaggaactctggag	14	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr20:62837075G>T	uc002yii.2	+	6	683	c.319G>T	c.(319-321)GAA>TAA	p.E107*	MYT1_uc002yih.2_Nonsense_Mutation_p.E107*|MYT1_uc002yij.2_5'Flank	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	107					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGTTTCGGATGAATCGGAAGG	0.592													T	62837075	G	T	62837075	4	4	104	1	0	0	0	0	0	1	0	0	10106	1291	45	5	333	5	MYT1	20	62837075	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5820	62837075	188445	6374	72988											
TPTE	7179	broad.mit.edu	37	chr21	10951415	10951415	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatccagtaagaccaggaaAactccaaatagtctaaaata	5	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:10951415A>C	uc002yip.1	-	10	665	c.297T>G	c.(295-297)GTT>GTG	p.V99V	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.V81V|TPTE_uc002yir.1_Silent_p.V61V|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	99	Helical; (Potential).				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGACCAGGAAAACTCCAAATA	0.328													C	10951415	A	C	10951415	2	2	104	1	0	0	0	0	0	0	0	1	16427	1	1	5		5	TPTE	21	10951415	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08		10951415	37178480	6375	72989											
TPTE	7179	broad.mit.edu	37	chr21	10998235	10998235	+	RNA	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatggtttcctttttctcttTttgacaccatctgttccttc	4	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:10998235T>G	uc002yis.1	-	11		c.2018A>C						P56180	TPTE_HUMAN	Homo sapiens putative tyrosine phosphatase mRNA, complete cds.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTTCTCTTTTTGACACCAT	0.378													G	10998235	T	G	10998235	1	3	104	0	1	0	0	0	0	0	0	0	16427	1856	64	5		5	TPTE	21	10998235	RNA	SNP	T	TCGA-BR-8680-01A-11D-2394-08	46820	10998235	37131660	6376	72990											
TPTE	7179	broad.mit.edu	37	chr21	11020823	11020823	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtttaccttaatactgAcacagtatggatggtaacac	9	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:11020823A>G	uc002yis.1	-	5		c.1136T>C						P56180	TPTE_HUMAN	Homo sapiens putative tyrosine phosphatase mRNA, complete cds.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTAATACTGACACAGTATGG	0.378													G	11020823	A	G	11020823	1	3	104	0	1	0	0	0	0	0	0	0	16427	290	10	3		3	TPTE	21	11020823	RNA	SNP	A	TCGA-BR-8680-01A-11D-2394-08	22588	11020823	37109072	6377	72991											
BAGE2	85319	broad.mit.edu	37	chr21	11049620	11049620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacagtttgcatcttccttCgctataattaacagtaaaac	5	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:11049620C>T	uc002yit.1	-	4	489	c.281G>A	c.(280-282)CGA>CAA	p.R94Q		NM_182482	NP_872288			B melanoma antigen family, member 2 precursor												0			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATCTTCCTTCGCTATAATTA	0.373													T	11049620	C	T	11049620	3	4	104	1	0	0	0	0	1	0	0	0	1292	898	31	1	52	1	BAGE2	21	11049620	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	28797	11049620	37080275	6378	72992											
SAMSN1	64092	broad.mit.edu	37	chr21	15893519	15893519	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaattattccgaaaacgatcGaaattcccaaaactgctgct	6	10	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:15893519G>A	uc002yju.1	-	2	163	c.81C>T	c.(79-81)TTC>TTT	p.F27F	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Silent_p.F95F	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization	27					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			ovary(3)|pancreas(1)	4				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GAAAACGATCGAAATTCCCAA	0.289													A	15893519	G	A	15893519	2	1	104	1	0	0	0	0	0	0	0	1	13830	1049	37	1		1	SAMSN1	21	15893519	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4843899	15893519	32236376	6379	72993											
NRIP1	8204	broad.mit.edu	37	chr21	16337265	16337265	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaatgtccttgtcttgtgtTtctcgactggtaacagaatt	8	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:16337265T>G	uc002yjx.2	-	4	3847	c.3249A>C	c.(3247-3249)GAA>GAC	p.E1083D		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1083					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGTCTTGTGTTTCTCGACTGG	0.413													G	16337265	T	G	16337265	3	3	104	1	0	0	0	0	1	0	0	0	10652	1838	64	5	231	5	NRIP1	21	16337265	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	443746	16337265	31792630	6380	72994											
TMPRSS15	5651	broad.mit.edu	37	chr21	19653432	19653432	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgcctattgtaatgagggtTtatgacaatttcatctatta	7	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:19653432T>G	uc002ykw.2	-	22	2624	c.2593A>C	c.(2593-2595)AAC>CAC	p.N865H		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	865	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						TAATGAGGGTTTATGACAATT	0.383													G	19653432	T	G	19653432	3	3	104	1	0	0	0	0	1	0	0	0	16243	1841	64	5	482	5	TMPRSS15	21	19653432	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	3316167	19653432	28476463	6381	72995											
TMPRSS15	5651	broad.mit.edu	37	chr21	19670096	19670096	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtgctgtgtttaatttgAcaaatggtccaccatcggta	10	8	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:19670096A>G	uc002ykw.2	-	19	2247	c.2216T>C	c.(2215-2217)GTC>GCC	p.V739A		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	739	Extracellular (Potential).|SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						GTTTAATTTGACAAATGGTCC	0.393													G	19670096	A	G	19670096	3	3	104	1	0	0	0	0	1	0	0	0	16243	275	10	3	871	3	TMPRSS15	21	19670096	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	16664	19670096	28459799	6382	72996											
NCAM2	4685	broad.mit.edu	37	chr21	22881337	22881337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaaaagtggctccagtgGcaaaagtaaagaactcgaag	11	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:22881337G>A	uc002yld.1	+	16	2492	c.2243G>A	c.(2242-2244)GGC>GAC	p.G748D	NCAM2_uc011acb.1_Missense_Mutation_p.G606D	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	748	Cytoplasmic (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GGCTCCAGTGGCAAAAGTAAA	0.448													A	22881337	G	A	22881337	3	1	104	1	0	0	0	0	1	0	0	0	10203	1203	42	2	2305	2	NCAM2	21	22881337	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3211241	22881337	25248558	6383	72997											
NCAM2	4685	broad.mit.edu	37	chr21	22910240	22910240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagaaattaaagtttctaacGacatcattcaatcaaaagaa	4	6	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:22910240G>A	uc002yld.1	+	18	2725	c.2476G>A	c.(2476-2478)GAC>AAC	p.D826N	NCAM2_uc011acb.1_Missense_Mutation_p.D684N	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	826	Cytoplasmic (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGTTTCTAACGACATCATTCA	0.343													A	22910240	G	A	22910240	3	1	104	1	0	0	0	0	1	0	0	0	10203	1058	37	1	2546	1	NCAM2	21	22910240	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	28903	22910240	25219655	6384	72998											
ADAMTS5	11096	broad.mit.edu	37	chr21	28296687	28296687	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcactattagaatttccttCgtggcagagtagcccatgcc	9	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:28296687C>T	uc002ymg.2	-	8	3207	c.2478G>A	c.(2476-2478)ACG>ACA	p.T826T		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	826	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						GAATTTCCTTCGTGGCAGAGT	0.443													T	28296687	C	T	28296687	2	4	104	1	0	0	0	0	0	0	0	1	269	871	31	1		1	ADAMTS5	21	28296687	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5386447	28296687	19833208	6385	72999											
ADAMTS5	11096	broad.mit.edu	37	chr21	28327064	28327064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggcgctgcataccgatttCgtgagccacagtgaaggctg	13	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:28327064C>T	uc002ymg.2	-	2	1960	c.1231G>A	c.(1231-1233)GAA>AAA	p.E411K		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	411	Peptidase M12B.	By similarity.			proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						ATACCGATTTCGTGAGCCACA	0.488													T	28327064	C	T	28327064	3	4	104	1	0	0	0	0	1	0	0	0	269	893	31	1	1589	1	ADAMTS5	21	28327064	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	30377	28327064	19802831	6386	73000											
USP16	10600	broad.mit.edu	37	chr21	30419571	30419571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacccgtaatgagaaacttcGagatgcgaataaactgcttt	8	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:30419571G>A	uc002ymy.2	+	14	2142	c.1940G>A	c.(1939-1941)CGA>CAA	p.R647Q	USP16_uc002ymx.2_Missense_Mutation_p.R646Q|USP16_uc002ymw.2_Missense_Mutation_p.R647Q|USP16_uc011acm.1_Missense_Mutation_p.R632Q|USP16_uc011acn.1_Missense_Mutation_p.R313Q|USP16_uc011aco.1_Missense_Mutation_p.R337Q	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	ubiquitin specific protease 16 isoform a	647					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(2)|breast(1)|pancreas(1)	4						GAGAAACTTCGAGATGCGAAT	0.368													A	30419571	G	A	30419571	3	1	104	1	0	0	0	0	1	0	0	0	17044	1058	37	1	1990	1	USP16	21	30419571	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2092507	30419571	17710324	6387	73001											
USP16	10600	broad.mit.edu	37	chr21	30422460	30422460	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacacataaagtttccggaAatcttagatttggctccttt	6	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:30422460A>C	uc002ymy.2	+	16	2356	c.2154A>C	c.(2152-2154)GAA>GAC	p.E718D	USP16_uc002ymx.2_Missense_Mutation_p.E717D|USP16_uc002ymw.2_Missense_Mutation_p.E718D|USP16_uc011acm.1_Missense_Mutation_p.E703D|USP16_uc011acn.1_Missense_Mutation_p.E384D|USP16_uc011aco.1_Missense_Mutation_p.E408D	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	ubiquitin specific protease 16 isoform a	718					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(2)|breast(1)|pancreas(1)	4						AGTTTCCGGAAATCTTAGATT	0.358													C	30422460	A	C	30422460	3	2	104	1	0	0	0	0	1	0	0	0	17044	11	1	5	2212	5	USP16	21	30422460	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2889	30422460	17707435	6388	73002											
GRIK1	2897	broad.mit.edu	37	chr21	30925894	30925894	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattacacagtatgaactgaGgactgttttcgaatccctct	8	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:30925894G>T	uc002yno.1	-	17	3203	c.2739C>A	c.(2737-2739)TCC>TCA	p.S913S	GRIK1_uc002ynn.2_Intron|GRIK1_uc011acs.1_Intron|GRIK1_uc011act.1_Intron	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	913	Cytoplasmic (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TATGAACTGAGGACTGTTTTC	0.348													T	30925894	G	T	30925894	2	4	104	1	0	0	0	0	0	0	0	1	6773	987	35	5		5	GRIK1	21	30925894	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	503434	30925894	17204001	6389	73003											
KRTAP24-1	643803	broad.mit.edu	37	chr21	31654595	31654595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagataaatagctcagtggtCggcagctcgtaggcctgtag	13	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:31654595C>T	uc002ynv.2	-	1	682	c.656G>A	c.(655-657)CGA>CAA	p.R219Q		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	219	3.|6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament	structural molecule activity				0						GCTCAGTGGTCGGCAGCTCGT	0.438													T	31654595	C	T	31654595	3	4	104	1	0	0	0	0	1	0	0	0	8542	884	31	1	112	1	KRTAP24-1	21	31654595	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	728701	31654595	16475300	6390	73004											
KRTAP27-1	643812	broad.mit.edu	37	chr21	31709589	31709589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttcccttgaggcttgcaGgttggcagctctgggctaca	13	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:31709589G>A	uc002ynx.1	-	1	424	c.398C>T	c.(397-399)CCT>CTT	p.P133L		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	133						intermediate filament				ovary(2)	2						GAGGCTTGCAGGTTGGCAGCT	0.488													A	31709589	G	A	31709589	3	1	104	1	0	0	0	0	1	0	0	0	8544	1000	35	4	229	4	KRTAP27-1	21	31709589	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	54994	31709589	16420306	6391	73005											
KRTAP13-1	140258	broad.mit.edu	37	chr21	31768675	31768675	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaacctccttgctctgcagtCcctgccagacaacttactct	6	16	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:31768675C>A	uc002yoa.2	+	1	284	c.271C>A	c.(271-273)CCC>ACC	p.P91T		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	91	5 X 10 AA approximate repeats.					intermediate filament				ovary(1)	1						GCTCTGCAGTCCCTGCCAGAC	0.617													A	31768675	C	A	31768675	3	1	104	1	0	0	0	0	1	0	0	0	8522	855	30	5	273	5	KRTAP13-1	21	31768675	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	59086	31768675	16361220	6392	73006											
KRTAP19-5	337972	broad.mit.edu	37	chr21	31874354	31874354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atagccatagcccaggtcatCgaagcctccgtagccgtagc	10	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:31874354C>T	uc011ada.1	-	1	55	c.55G>A	c.(55-57)GAT>AAT	p.D19N		NM_181611	NP_853642	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	19						intermediate filament	protein binding				0						CCCAGGTCATCGAAGCCTCCG	0.587													T	31874354	C	T	31874354	3	4	104	1	0	0	0	0	1	0	0	0	8532	884	31	1	166	1	KRTAP19-5	21	31874354	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	105679	31874354	16255541	6393	73007											
TIAM1	7074	broad.mit.edu	37	chr21	32519234	32519234	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcaccaggaccttgggaaCttttgtgtggctggcgcaga	13	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:32519234C>A	uc002yow.1	-	21	3926	c.3454G>T	c.(3454-3456)GTT>TTT	p.V1152F	TIAM1_uc011adk.1_Missense_Mutation_p.V1152F|TIAM1_uc011adl.1_Missense_Mutation_p.V1092F	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1152	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						ACCTTGGGAACTTTTGTGTGG	0.537													A	32519234	C	A	32519234	3	1	104	1	0	0	0	0	1	0	0	0	15887	565	20	5	1357	5	TIAM1	21	32519234	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	644880	32519234	15610661	6394	73008											
TIAM1	7074	broad.mit.edu	37	chr21	32559358	32559358	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttccttcacactattcacgTacagccttcgaataccatct	3	14	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:32559358T>C	uc002yow.1	-	15	3093	c.2621A>G	c.(2620-2622)TAC>TGC	p.Y874C	TIAM1_uc011adk.1_Missense_Mutation_p.Y874C|TIAM1_uc011adl.1_Missense_Mutation_p.Y814C	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	874	PDZ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						ACTATTCACGTACAGCCTTCG	0.453													C	32559358	T	C	32559358	3	2	104	1	0	0	0	0	1	0	0	0	15887	1638	57	3	2214	3	TIAM1	21	32559358	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	40124	32559358	15570537	6395	73009											
SFRS15	57466	broad.mit.edu	37	chr21	33068467	33068467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtattcccatcattcgtgGctgaaactgatccatatttt	6	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:33068467G>A	uc002ypd.2	-	9	1453	c.1027C>T	c.(1027-1029)CCA>TCA	p.P343S	SFRS15_uc002ype.2_Missense_Mutation_p.P343S|SFRS15_uc010glu.2_Missense_Mutation_p.P328S|SFRS15_uc002ypf.1_Missense_Mutation_p.P17S	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	343						nucleus	nucleotide binding|RNA binding				0						ATCATTCGTGGCTGAAACTGA	0.403													A	33068467	G	A	33068467	3	1	104	1	0	0	0	0	1	0	0	0	14171	1203	42	2	2464	2	SFRS15	21	33068467	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	509109	33068467	15061428	6396	73010											
SYNJ1	8867	broad.mit.edu	37	chr21	34030180	34030180	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttctaaaaatcctctaaaAacctaaaataaacatataca	0	10	2	0	rs145411448		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:34030180A>C	uc002yqh.2	-	19	2424	c.2424T>G	c.(2422-2424)GTT>GTG	p.V808V	SYNJ1_uc011ads.1_Silent_p.V764V|SYNJ1_uc002yqf.2_Silent_p.V769V|SYNJ1_uc002yqg.2_Silent_p.V764V|SYNJ1_uc002yqi.2_Silent_p.V808V	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	769	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						ATCCTCTAAAAACCTAAAATA	0.289													C	34030180	A	C	34030180	2	2	104	1	0	0	0	0	0	0	0	1	15449	1	1	5		5	SYNJ1	21	34030180	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	961713	34030180	14099715	6397	73011											
SYNJ1	8867	broad.mit.edu	37	chr21	34058149	34058149	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actatgtaatttttctgcctTtcctcccttaaccatttgat	3	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:34058149T>G	uc002yqh.2	-	9	1144	c.1144A>C	c.(1144-1146)AAG>CAG	p.K382Q	SYNJ1_uc011ads.1_Missense_Mutation_p.K343Q|SYNJ1_uc002yqf.2_Missense_Mutation_p.K343Q|SYNJ1_uc002yqg.2_Missense_Mutation_p.K343Q|SYNJ1_uc002yqi.2_Missense_Mutation_p.K382Q	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	343	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						TTTTCTGCCTTTCCTCCCTTA	0.338													G	34058149	T	G	34058149	3	3	104	1	0	0	0	0	1	0	0	0	15449	1850	64	5	3824	5	SYNJ1	21	34058149	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	27969	34058149	14071746	6398	73012											
GCFC1	94104	broad.mit.edu	37	chr21	34132150	34132150	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcatctcattactgggagtTttgaaagggactgtattatc	10	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:34132150T>G	uc002yqn.2	-	6	1321	c.1131A>C	c.(1129-1131)AAA>AAC	p.K377N	GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.K377N|GCFC1_uc002yqr.2_Missense_Mutation_p.K377N	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	GC-rich sequence DNA-binding factor candidate	377						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						TACTGGGAGTTTTGAAAGGGA	0.413													G	34132150	T	G	34132150	3	3	104	1	0	0	0	0	1	0	0	0	6289	1838	64	5	1792	5	GCFC1	21	34132150	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	74001	34132150	13997745	6399	73013											
IL10RB	3588	broad.mit.edu	37	chr21	34652088	34652088	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccctggaatgcaagtagaAgtacttgctgattctttaca	8	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:34652088A>C	uc002yrk.1	+	4	462	c.363A>C	c.(361-363)GAA>GAC	p.E121D	IL10RB_uc002yrh.1_Missense_Mutation_p.E191D|IL10RB_uc002yri.1_Missense_Mutation_p.E74D|IL10RB_uc002yrl.1_Missense_Mutation_p.E123D	NM_000628	NP_000619	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta precursor	121	Fibronectin type-III.|Extracellular (Potential).				immune response|inflammatory response	interleukin-28 receptor complex	protein binding|receptor activity				0						TGCAAGTAGAAGTACTTGCTG	0.328													C	34652088	A	C	34652088	3	2	104	1	0	0	0	0	1	0	0	0	7621	69	3	5	377	5	IL10RB	21	34652088	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	519938	34652088	13477807	6400	73014											
IFNAR1	3454	broad.mit.edu	37	chr21	34725189	34725189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagcagtgtttttagtgaCgctgtatgtgagaaaacaaa	10	4	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:34725189C>T	uc002yrn.2	+	9	1416	c.1269C>T	c.(1267-1269)GAC>GAT	p.D423D	IFNAR1_uc011adv.1_Silent_p.D354D	NM_000629	NP_000620	P17181	INAR1_HUMAN	interferon-alpha receptor 1 precursor	423	Fibronectin type-III 3.|Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			central_nervous_system(1)|skin(1)	2					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TTTTTAGTGACGCTGTATGTG	0.323													T	34725189	C	T	34725189	2	4	104	1	0	0	0	0	0	0	0	1	7544	535	19	1		1	IFNAR1	21	34725189	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	73101	34725189	13404706	6401	73015											
SON	6651	broad.mit.edu	37	chr21	34922384	34922384	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatctgtggagagcacaTctccagagccatcaaagatc	9	10	3	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:34922384T>A	uc002yse.1	+	3	896	c.847T>A	c.(847-849)TCT>ACT	p.S283T	SON_uc002ysb.1_Missense_Mutation_p.S283T|SON_uc002ysc.2_Missense_Mutation_p.S283T|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	283					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						GGAGAGCACATCTCCAGAGCC	0.463											OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	34922384	T	A	34922384	3	1	104	1	0	0	0	0	1	0	0	0	14926	1435	50	5	857	5	SON	21	34922384	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	197195	34922384	13207511	6402	73016											
SON	6651	broad.mit.edu	37	chr21	34922611	34922611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattcatccatgacaagaccGcaggagttgccggagctgcc	12	12	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:34922611G>A	uc002yse.1	+	3	1123	c.1074G>A	c.(1072-1074)CCG>CCA	p.P358P	SON_uc002ysb.1_Silent_p.P358P|SON_uc002ysc.2_Silent_p.P358P|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	358					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						TGACAAGACCGCAGGAGTTGC	0.567													A	34922611	G	A	34922611	2	1	104	1	0	0	0	0	0	0	0	1	14926	1074	38	1		1	SON	21	34922611	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	227	34922611	13207284	6403	73017											
SON	6651	broad.mit.edu	37	chr21	34923451	34923451	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccagggcagcctggggcGccagagttgcctgggcagcc	17	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:34923451G>A	uc002yse.1	+	3	1963	c.1914G>A	c.(1912-1914)GCG>GCA	p.A638A	SON_uc002ysb.1_Silent_p.A638A|SON_uc002ysc.2_Silent_p.A638A|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	638					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						AGCCTGGGGCGCCAGAGTTGC	0.627													A	34923451	G	A	34923451	2	1	104	1	0	0	0	0	0	0	0	1	14926	1074	38	1		1	SON	21	34923451	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	840	34923451	13206444	6404	73018											
SON	6651	broad.mit.edu	37	chr21	34931566	34931566	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agatcgcacagagtaaagaaGatgatgatgtaatagtgaat	11	3	0	7			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:34931566G>T	uc002yse.1	+	5	6401	c.6352G>T	c.(6352-6354)GAT>TAT	p.D2118Y	SON_uc002ysc.2_Missense_Mutation_p.D2118Y|SON_uc002ysd.2_Missense_Mutation_p.D1109Y|SON_uc002ysf.1_Missense_Mutation_p.D146Y|SON_uc002ysg.2_Missense_Mutation_p.D1109Y	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	2118					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						GAGTAAAGAAGATGATGATGT	0.313													T	34931566	G	T	34931566	3	4	104	1	0	0	0	0	1	0	0	0	14926	942	33	5	6370	5	SON	21	34931566	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	8115	34931566	13198329	6405	73019											
ITSN1	6453	broad.mit.edu	37	chr21	35127704	35127704	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagtggacacttaacaggTatttacaaataaaaattagt	7	4	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:35127704T>C	uc002yta.1	+	8	992	c.724_splice	c.e8+2	p.G242_splice	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_Splice_Site|ITSN1_uc002ysz.2_Splice_Site_p.G242_splice|ITSN1_uc010gmg.2_Splice_Site_p.G205_splice|ITSN1_uc010gmh.2_Splice_Site|ITSN1_uc002ysw.2_Splice_Site_p.G242_splice|ITSN1_uc010gmi.2_Splice_Site_p.G205_splice|ITSN1_uc010gmj.2_Splice_Site_p.G126_splice|ITSN1_uc002ysy.2_Splice_Site_p.G242_splice|ITSN1_uc002ysx.2_Splice_Site_p.G205_splice|ITSN1_uc002ytb.1_Splice_Site_p.G242_splice|ITSN1_uc002ytc.1_Splice_Site_p.G242_splice|ITSN1_uc002ytd.2_Splice_Site|ITSN1_uc010gmk.2_Splice_Site_p.G205_splice|ITSN1_uc010gml.2_Splice_Site|ITSN1_uc002ytj.2_Splice_Site_p.G242_splice|ITSN1_uc010gmm.1_Splice_Site|ITSN1_uc002yte.2_Splice_Site_p.G176_splice	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						ACTTAACAGGTATTTACAAAT	0.348													C	35127704	T	C	35127704	5	2	104	1	0	0	0	0	0	0	1	0	7926	1652	57	3	752	3	ITSN1	21	35127704	Splice_Site	SNP	T	TCGA-BR-8680-01A-11D-2394-08	196138	35127704	13002191	6406	73020											
ITSN1	6453	broad.mit.edu	37	chr21	35260458	35260458	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgttctcttttcagatTttttgggtcggacggagatc	11	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:35260458T>G	uc002yta.1	+	40	5288	c.5020T>G	c.(5020-5022)TTT>GTT	p.F1674V	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.F1669V|ITSN1_uc002ytj.2_Missense_Mutation_p.F1613V|ITSN1_uc010gmm.1_RNA	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	1674	C2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						CTTTTCAGATTTTTTGGGTCG	0.527													G	35260458	T	G	35260458	3	3	104	1	0	0	0	0	1	0	0	0	7926	1841	64	5	5180	5	ITSN1	21	35260458	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	132754	35260458	12869437	6407	73021											
SLC5A3	6526	broad.mit.edu	37	chr21	35467556	35467556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccctgtattttatcctggTcatgtgcattggtttttttg	10	7	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:35467556T>C	uc002yto.2	+	2	571	c.59T>C	c.(58-60)GTC>GCC	p.V20A	MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	solute carrier family 5 (inositol transporters),	20	Helical; (Potential).					integral to plasma membrane	myo-inositol:sodium symporter activity			ovary(2)	2						TTTATCCTGGTCATGTGCATT	0.468													C	35467556	T	C	35467556	3	2	104	1	0	0	0	0	1	0	0	0	14666	1667	58	3	61	3	SLC5A3	21	35467556	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	207098	35467556	12662339	6408	73022											
DOPEY2	9980	broad.mit.edu	37	chr21	37603319	37603319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggggttccagggaggaacGcagggaggcctttgccgccg	20	10	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:37603319G>A	uc002yvg.2	+	14	2316	c.2237G>A	c.(2236-2238)CGC>CAC	p.R746H	DOPEY2_uc011aeb.1_Missense_Mutation_p.R746H	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	746					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						AGGGAGGAACGCAGGGAGGCC	0.612													A	37603319	G	A	37603319	3	1	104	1	0	0	0	0	1	0	0	0	4708	1087	38	1	2287	1	DOPEY2	21	37603319	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2135763	37603319	10526576	6409	73023											
DOPEY2	9980	broad.mit.edu	37	chr21	37664487	37664487	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaatcaccaagaatgcaaaCcccacactgtcaggattcta	6	12	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:37664487C>A	uc002yvg.2	+	36	6680	c.6601C>A	c.(6601-6603)CCC>ACC	p.P2201T	DOPEY2_uc011aeb.1_Missense_Mutation_p.P2150T	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	2201					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						AGAATGCAAACCCCACACTGT	0.353													A	37664487	C	A	37664487	3	1	104	1	0	0	0	0	1	0	0	0	4708	507	18	5	6739	5	DOPEY2	21	37664487	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	61168	37664487	10465408	6410	73024											
MORC3	23515	broad.mit.edu	37	chr21	37741635	37741635	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaaagaagaaactgttgaaGacgagatagacgtaagaaat	10	3	0	7			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:37741635G>A	uc002yvi.2	+	15	2045	c.1969G>A	c.(1969-1971)GAC>AAC	p.D657N		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	657					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						AACTGTTGAAGACGAGATAGA	0.433													A	37741635	G	A	37741635	3	1	104	1	0	0	0	0	1	0	0	0	9703	942	33	4	2027	4	MORC3	21	37741635	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	77148	37741635	10388260	6411	73025											
TTC3	7267	broad.mit.edu	37	chr21	38501357	38501357	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaacaatgaatcagaaaAgttcaggtatgttttttctc	7	6	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:38501357A>C	uc002yvz.2	+	16	1457	c.1352A>C	c.(1351-1353)AAG>ACG	p.K451T	TTC3_uc011aee.1_Missense_Mutation_p.K141T|TTC3_uc002ywa.2_Missense_Mutation_p.K451T|TTC3_uc002ywb.2_Missense_Mutation_p.K451T|TTC3_uc010gnf.2_Missense_Mutation_p.K216T|TTC3_uc002ywc.2_Missense_Mutation_p.K141T|TTC3_uc011aed.1_Missense_Mutation_p.K141T|TTC3_uc010gne.1_Missense_Mutation_p.K451T	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	451					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				GAATCAGAAAAGTTCAGGTAT	0.299													C	38501357	A	C	38501357	3	2	104	1	0	0	0	0	1	0	0	0	16694	72	3	5	1410	5	TTC3	21	38501357	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	759722	38501357	9628538	6412	73026											
TTC3	7267	broad.mit.edu	37	chr21	38559387	38559387	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaatgaaaatagaagagTatataaagaaagggaaagag	11	0	0	6			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:38559387T>C	uc002yvz.2	+	38	4969	c.4864T>C	c.(4864-4866)TAT>CAT	p.Y1622H	TTC3_uc002ywa.2_Missense_Mutation_p.Y1622H|TTC3_uc002ywb.2_Missense_Mutation_p.Y1622H|TTC3_uc010gnf.2_Missense_Mutation_p.Y1387H|TTC3_uc002ywc.2_Missense_Mutation_p.Y1312H	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1622					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				AATAGAAGAGTATATAAAGAA	0.358													C	38559387	T	C	38559387	3	2	104	1	0	0	0	0	1	0	0	0	16694	1638	57	3	5010	3	TTC3	21	38559387	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	58030	38559387	9570508	6413	73027											
DYRK1A	1859	broad.mit.edu	37	chr21	38853084	38853084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acggagaaaagtggatggatCgttacgaaattgactccttg	12	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:38853084C>T	uc002ywk.2	+	4	547	c.472C>T	c.(472-474)CGT>TGT	p.R158C	DYRK1A_uc002ywh.1_Missense_Mutation_p.R120C|DYRK1A_uc002ywi.2_Missense_Mutation_p.R158C|DYRK1A_uc002ywj.2_Missense_Mutation_p.R149C|DYRK1A_uc002ywl.2_Missense_Mutation_p.R158C|DYRK1A_uc002ywm.2_Missense_Mutation_p.R158C	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	158					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			ovary(2)|lung(1)|breast(1)	4						GTGGATGGATCGTTACGAAAT	0.338													T	38853084	C	T	38853084	3	4	104	1	0	0	0	0	1	0	0	0	4854	884	31	1	486	1	DYRK1A	21	38853084	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	293697	38853084	9276811	6414	73028											
DYRK1A	1859	broad.mit.edu	37	chr21	38862486	38862486	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctctttcagtgcatttgaAacgccactttatgtttcgaa	6	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:38862486A>C	uc002ywk.2	+	6	749	c.674A>C	c.(673-675)AAA>ACA	p.K225T	DYRK1A_uc002ywi.2_Missense_Mutation_p.K225T|DYRK1A_uc002ywj.2_Missense_Mutation_p.K216T|DYRK1A_uc002ywl.2_Missense_Mutation_p.K225T|DYRK1A_uc002ywm.2_Missense_Mutation_p.K225T|DYRK1A_uc011aei.1_5'UTR	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	225	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			ovary(2)|lung(1)|breast(1)	4						GTGCATTTGAAACGCCACTTT	0.343													C	38862486	A	C	38862486	3	2	104	1	0	0	0	0	1	0	0	0	4854	14	1	5	696	5	DYRK1A	21	38862486	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	9402	38862486	9267409	6415	73029											
KCNJ6	3763	broad.mit.edu	37	chr21	38997769	38997769	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actggtgatgtaggagcttcGagcttggcatgtcatccctg	13	9	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:38997769G>A	uc011aej.1	-	4	1017	c.964C>T	c.(964-966)CGA>TGA	p.R322*	KCNJ6_uc002ywo.2_Nonsense_Mutation_p.R322*	NM_002240	NP_002231	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel J6	322	Cytoplasmic (By similarity).				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1					Halothane(DB01159)	TAGGAGCTTCGAGCTTGGCAT	0.527													A	38997769	G	A	38997769	4	1	104	1	0	0	0	0	0	1	0	0	8055	1066	37	1	311	1	KCNJ6	21	38997769	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	135283	38997769	9132126	6416	73030											
KCNJ15	3772	broad.mit.edu	37	chr21	39671201	39671201	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaatggatgccattcacatCggcatgtccagcacccccct	8	16	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:39671201C>T	uc002ywv.2	+	4	320	c.18C>T	c.(16-18)ATC>ATT	p.I6I	KCNJ15_uc002yww.2_Silent_p.I6I|KCNJ15_uc002ywx.2_Silent_p.I6I	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	6	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						CCATTCACATCGGCATGTCCA	0.517													T	39671201	C	T	39671201	2	4	104	1	0	0	0	0	0	0	0	1	8049	874	31	1		1	KCNJ15	21	39671201	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	673432	39671201	8458694	6417	73031											
ERG	2078	broad.mit.edu	37	chr21	39755649	39755649	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatgatgttcttgtcataGtagtaacggagggcgcggct	14	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:39755649G>A	uc010gnw.2	-	12	1432	c.1137C>T	c.(1135-1137)TAC>TAT	p.Y379Y	ERG_uc002yxa.2_Silent_p.Y372Y|ERG_uc011aek.1_Silent_p.Y280Y|ERG_uc010gnv.2_Silent_p.Y256Y|ERG_uc010gnx.2_Silent_p.Y355Y|ERG_uc011ael.1_Silent_p.Y379Y|ERG_uc002yxb.2_Silent_p.Y355Y	NM_001136155	NP_001129627	P11308	ERG_HUMAN	ets-related isoform 4	379	ETS.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828		Prostate(19;3.6e-06)				TCTTGTCATAGTAGTAACGGA	0.602													A	39755649	G	A	39755649	2	1	104	1	0	0	0	0	0	0	0	1	5222	1024	36	4		4	ERG	21	39755649	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	84448	39755649	8374246	6418	73032											
ERG	2078	broad.mit.edu	37	chr21	39775557	39775557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaataacaagatgttgaCgtctggaaggccatattctt	10	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:39775557C>T	uc010gnw.2	-	6	779	c.484G>A	c.(484-486)GTC>ATC	p.V162I	ERG_uc002yxa.2_Missense_Mutation_p.V155I|ERG_uc011aek.1_Missense_Mutation_p.V63I|ERG_uc010gnv.2_Missense_Mutation_p.V63I|ERG_uc010gnx.2_Missense_Mutation_p.V162I|ERG_uc011ael.1_Missense_Mutation_p.V162I|ERG_uc002yxb.2_Missense_Mutation_p.V162I|ERG_uc011aem.1_Intron|ERG_uc002yxc.3_Missense_Mutation_p.V162I|ERG_uc010gny.1_RNA	NM_001136155	NP_001129627	P11308	ERG_HUMAN	ets-related isoform 4	162	PNT.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828		Prostate(19;3.6e-06)				AAGATGTTGACGTCTGGAAGG	0.527													T	39775557	C	T	39775557	3	4	104	1	0	0	0	0	1	0	0	0	5222	536	19	1	1004	1	ERG	21	39775557	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	19908	39775557	8354338	6419	73033											
ETS2	2114	broad.mit.edu	37	chr21	40189001	40189001	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccgttcctcattggattaAcagcaatacattaggtcagt	7	10	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:40189001A>G	uc002yxg.2	+	6	771	c.575A>G	c.(574-576)AAC>AGC	p.N192S	ETS2_uc002yxf.2_Missense_Mutation_p.N332S	NM_005239	NP_005230	P15036	ETS2_HUMAN	v-ets erythroblastosis virus E26 oncogene	192					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)|pancreas(1)	4		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CATTGGATTAACAGCAATACA	0.423													G	40189001	A	G	40189001	3	3	104	1	0	0	0	0	1	0	0	0	5276	43	2	3	593	3	ETS2	21	40189001	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	413444	40189001	7940894	6420	73034											
LCA5L	150082	broad.mit.edu	37	chr21	40783699	40783699	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtattcgatgactatagatGtttttaatttcaagctcacg	7	6	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:40783699G>A	uc002yxu.2	-	7	1318	c.1005C>T	c.(1003-1005)AAC>AAT	p.N335N	LCA5L_uc002yxv.2_Silent_p.N335N	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	335	Potential.										0		Prostate(19;1.2e-06)				GACTATAGATGTTTTTAATTT	0.279													A	40783699	G	A	40783699	2	1	104	1	0	0	0	0	0	0	0	1	8657	1368	48	4		4	LCA5L	21	40783699	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	594698	40783699	7346196	6421	73035											
LCA5L	150082	broad.mit.edu	37	chr21	40800375	40800375	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttttctaatgccacgccgaaGaaatgctcatctatatttgt	6	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:40800375G>T	uc002yxu.2	-	4	358	c.45C>A	c.(43-45)TTC>TTA	p.F15L	LCA5L_uc002yxv.2_Missense_Mutation_p.F15L|LCA5L_uc002yxw.1_Missense_Mutation_p.F15L|LCA5L_uc002yxx.1_Intron|LCA5L_uc002yxy.2_RNA	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	15											0		Prostate(19;1.2e-06)				CCACGCCGAAGAAATGCTCAT	0.363													T	40800375	G	T	40800375	3	4	104	1	0	0	0	0	1	0	0	0	8657	933	33	5	1995	5	LCA5L	21	40800375	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	16676	40800375	7329520	6422	73036											
SH3BGR	6450	broad.mit.edu	37	chr21	40834341	40834341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagtgggttttttggaagCgaataaaatcgactttaagg	12	3	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:40834341C>T	uc002yya.2	+	2	329	c.275C>T	c.(274-276)GCG>GTG	p.A92V	SH3BGR_uc002yxz.2_5'UTR	NM_007341	NP_031367	P55822	SH3BG_HUMAN	SH3-binding domain and glutamic acid-rich	92					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity				0		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		TTTTTGGAAGCGAATAAAATC	0.358													T	40834341	C	T	40834341	3	4	104	1	0	0	0	0	1	0	0	0	14240	768	27	1	281	1	SH3BGR	21	40834341	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	33966	40834341	7295554	6423	73037											
DSCAM	1826	broad.mit.edu	37	chr21	41559880	41559880	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aattaatagcatggcaggaaAagaaaccagaatcttctctc	7	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:41559880A>C	uc002yyq.1	-	13	3040	c.2588T>G	c.(2587-2589)TTT>TGT	p.F863C	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	863	Ig-like C2-type 9.|Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATGGCAGGAAAAGAAACCAGA	0.398													C	41559880	A	C	41559880	3	2	104	1	0	0	0	0	1	0	0	0	4768	14	1	5	3534	5	DSCAM	21	41559880	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	725539	41559880	6570015	6424	73038											
DSCAM	1826	broad.mit.edu	37	chr21	41684041	41684041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctttggtgctccacagCggcggcctcattccgggcta	13	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:41684041C>T	uc002yyq.1	-	9	2481	c.2029G>A	c.(2029-2031)GCT>ACT	p.A677T	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	677	Extracellular (Potential).|Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGCTCCACAGCGGCGGCCTCA	0.478													T	41684041	C	T	41684041	3	4	104	1	0	0	0	0	1	0	0	0	4768	768	27	1	4109	1	DSCAM	21	41684041	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	124161	41684041	6445854	6425	73039											
DSCAM	1826	broad.mit.edu	37	chr21	41684283	41684283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagggttgtatgaaaggcGgaactgcaagaaaaaagaaa	12	4	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:41684283G>A	uc002yyq.1	-	9	2239	c.1787C>T	c.(1786-1788)CCG>CTG	p.P596L	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	596	Extracellular (Potential).|Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TATGAAAGGCGGAACTGCAAG	0.448													A	41684283	G	A	41684283	3	1	104	1	0	0	0	0	1	0	0	0	4768	1116	39	1	4351	1	DSCAM	21	41684283	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	242	41684283	6445612	6426	73040											
BACE2	25825	broad.mit.edu	37	chr21	42617914	42617914	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcagacaaggccatcgtggAcagtggcaccacgctgctgc	13	14	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:42617914A>G	uc002yyw.2	+	6	1371	c.908A>G	c.(907-909)GAC>GGC	p.D303G	BACE2_uc002yyx.2_Missense_Mutation_p.D303G|BACE2_uc002yyy.2_Missense_Mutation_p.D303G|BACE2_uc010goo.2_RNA	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2 isoform A	303	Extracellular (Potential).			D->A: Loss of autoproteolytic cleavage.	membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GCCATCGTGGACAGTGGCACC	0.632													G	42617914	A	G	42617914	3	3	104	1	0	0	0	0	1	0	0	0	1282	275	10	3	930	3	BACE2	21	42617914	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	933631	42617914	5511981	6427	73041											
BACE2	25825	broad.mit.edu	37	chr21	42647372	42647372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccagcaactgtgtccccGctcagtctttgagcgagccc	10	15	2	1	rs149345353	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:42647372G>A	uc002yyw.2	+	9	1841	c.1378G>A	c.(1378-1380)GCT>ACT	p.A460T	BACE2_uc002yyx.2_Missense_Mutation_p.A410T|BACE2_uc002yyy.2_3'UTR|BACE2_uc010goo.2_RNA	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2 isoform A	460	Extracellular (Potential).				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CTGTGTCCCCGCTCAGTCTTT	0.527													A	42647372	G	A	42647372	3	1	104	1	0	0	0	0	1	0	0	0	1282	1087	38	1	1412	1	BACE2	21	42647372	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	29458	42647372	5482523	6428	73042											
UMODL1	89766	broad.mit.edu	37	chr21	43533907	43533907	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggccaaagcatgtgggaaaGaaggtgccagagctcatctg	14	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:43533907G>T	uc002zaf.1	+	13	2329	c.2329G>T	c.(2329-2331)GAA>TAA	p.E777*	UMODL1_uc002zad.1_Nonsense_Mutation_p.E705*|UMODL1_uc002zae.1_Nonsense_Mutation_p.E833*|UMODL1_uc002zag.1_Nonsense_Mutation_p.E905*	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	777	Extracellular (Potential).|Fibronectin type-III 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						ATGTGGGAAAGAAGGTGCCAG	0.483													T	43533907	G	T	43533907	4	4	104	1	0	0	0	0	0	1	0	0	16977	943	33	5	2759	5	UMODL1	21	43533907	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	886535	43533907	4595988	6429	73043											
ABCG1	9619	broad.mit.edu	37	chr21	43702514	43702514	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaccctccagtcatgttctTcgatgagcccaccaggtaag	8	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:43702514T>C	uc002zaq.2	+	6	825	c.719T>C	c.(718-720)TTC>TCC	p.F240S	ABCG1_uc002zan.2_Missense_Mutation_p.F242S|ABCG1_uc002zam.2_Missense_Mutation_p.F218S|ABCG1_uc002zao.2_Missense_Mutation_p.F237S|ABCG1_uc002zap.2_Missense_Mutation_p.F240S|ABCG1_uc002zar.2_Missense_Mutation_p.F251S|ABCG1_uc011aev.1_Missense_Mutation_p.F251S	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	240	Cytoplasmic (Potential).|ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			ovary(2)|central_nervous_system(1)	3					Adenosine triphosphate(DB00171)	GTCATGTTCTTCGATGAGCCC	0.607													C	43702514	T	C	43702514	3	2	104	1	0	0	0	0	1	0	0	0	68	1783	62	3	909	3	ABCG1	21	43702514	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	168607	43702514	4427381	6430	73044											
ABCG1	9619	broad.mit.edu	37	chr21	43716283	43716283	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcctcctaggtatgggttCgaaggggtcatcctctccat	10	11	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:43716283C>T	uc002zaq.2	+	15	1924	c.1818C>T	c.(1816-1818)TTC>TTT	p.F606F	ABCG1_uc002zan.2_Silent_p.F596F|ABCG1_uc002zam.2_Silent_p.F572F|ABCG1_uc002zao.2_Silent_p.F591F|ABCG1_uc002zap.2_Silent_p.F594F|ABCG1_uc002zar.2_Silent_p.F605F|ABCG1_uc011aev.1_Silent_p.F617F|uc002zau.2_5'Flank	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	606	ABC transmembrane type-2.|Extracellular (Potential).				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			ovary(2)|central_nervous_system(1)	3					Adenosine triphosphate(DB00171)	GGTATGGGTTCGAAGGGGTCA	0.587													T	43716283	C	T	43716283	2	4	104	1	0	0	0	0	0	0	0	1	68	883	31	1		1	ABCG1	21	43716283	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	13769	43716283	4413612	6431	73045											
UBASH3A	53347	broad.mit.edu	37	chr21	43862610	43862610	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgagtggaacctggaatctTtgaatggacaaaatgggaag	13	5	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:43862610T>G	uc002zbe.2	+	12	1571	c.1535T>G	c.(1534-1536)TTT>TGT	p.F512C	UBASH3A_uc002zbf.2_Missense_Mutation_p.F474C|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.F474C	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	512	Phosphatase-like.					cytosol|nucleus				ovary(3)	3						CCTGGAATCTTTGAATGGACA	0.418													G	43862610	T	G	43862610	3	3	104	1	0	0	0	0	1	0	0	0	16836	1841	64	5	1581	5	UBASH3A	21	43862610	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	146327	43862610	4267285	6432	73046											
PKNOX1	5316	broad.mit.edu	37	chr21	44444988	44444988	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttattttcagcatccctAcccaacagaggatgagaaaa	6	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:44444988A>G	uc002zcq.1	+	9	1045	c.857A>G	c.(856-858)TAC>TGC	p.Y286C	PKNOX1_uc002zcp.1_Missense_Mutation_p.Y286C|PKNOX1_uc011aex.1_Missense_Mutation_p.Y169C	NM_004571	NP_004562	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	286	Homeobox; TALE-type.						sequence-specific DNA binding			large_intestine(2)	2						CAGCATCCCTACCCAACAGAG	0.398													G	44444988	A	G	44444988	3	3	104	1	0	0	0	0	1	0	0	0	11982	391	14	3	887	3	PKNOX1	21	44444988	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	582378	44444988	3684907	6433	73047											
CBS	875	broad.mit.edu	37	chr21	44488638	44488638	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagagctcacacttcaggccGaacttcttcccaatcttgtt	6	14	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:44488638G>A	uc002zcu.2	-	4	542	c.297C>T	c.(295-297)TTC>TTT	p.F99F	CBS_uc002zcs.1_5'Flank|CBS_uc002zct.2_Silent_p.F99F|CBS_uc002zcw.3_Silent_p.F99F|CBS_uc002zcv.2_Silent_p.F99F	NM_000071	NP_000062	P35520	CBS_HUMAN	cystathionine-beta-synthase	99					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding				0					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	ACTTCAGGCCGAACTTCTTCC	0.443													A	44488638	G	A	44488638	2	1	104	1	0	0	0	0	0	0	0	1	2711	1049	37	1		1	CBS	21	44488638	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	43650	44488638	3641257	6434	73048											
TRAPPC10	7109	broad.mit.edu	37	chr21	45504019	45504019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaggccaaggaacctggaaCgtatacactcaggcagctgt	11	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:45504019C>T	uc002zea.2	+	15	2424	c.2255C>T	c.(2254-2256)ACG>ATG	p.T752M	TRAPPC10_uc010gpo.2_Missense_Mutation_p.T463M|TRAPPC10_uc011afa.1_Missense_Mutation_p.T171M	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	752					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						GAACCTGGAACGTATACACTC	0.567													T	45504019	C	T	45504019	3	4	104	1	0	0	0	0	1	0	0	0	16454	536	19	1	2313	1	TRAPPC10	21	45504019	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1015381	45504019	2625876	6435	73049											
PWP2	5822	broad.mit.edu	37	chr21	45540313	45540313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccggtgtgacctttactGccaccggctacgttgtggtg	13	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:45540313G>A	uc002zeb.2	+	11	1363	c.1273G>A	c.(1273-1275)GCC>ACC	p.A425T		NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	425	WD 9.					cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GACCTTTACTGCCACCGGCTA	0.587													A	45540313	G	A	45540313	3	1	104	1	0	0	0	0	1	0	0	0	12844	1319	46	2	1315	2	PWP2	21	45540313	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	36294	45540313	2589582	6436	73050											
KRTAP10-4	386672	broad.mit.edu	37	chr21	45994370	45994370	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaagcctgtgtgctctgaGgattcctcttcatgctgcca	10	12	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:45994370G>T	uc002zfk.1	+	1	765	c.735G>T	c.(733-735)GAG>GAT	p.E245D	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	keratin associated protein 10-4	245	36 X 5 AA repeats of C-C-X(3).					keratin filament					0						TGTGCTCTGAGGATTCCTCTT	0.637													T	45994370	G	T	45994370	3	4	104	1	0	0	0	0	1	0	0	0	8511	991	35	5	737	5	KRTAP10-4	21	45994370	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	454057	45994370	2135525	6437	73051											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047149	46047149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgactcctggcaggtggacGactgcccagagagctgctgt	14	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:46047149G>A	uc002zfp.3	+	1	110	c.61G>A	c.(61-63)GAC>AAC	p.D21N	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	keratin associated protein 10-9	21						keratin filament					0						GCAGGTGGACGACTGCCCAGA	0.672													A	46047149	G	A	46047149	3	1	104	1	0	0	0	0	1	0	0	0	8516	1058	37	1	63	1	KRTAP10-9	21	46047149	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	52779	46047149	2082746	6438	73052											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047218	46047218	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgccccggccccctgcctgAccctggtctgcaccccagtg	11	21	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:46047218A>G	uc002zfp.3	+	1	179	c.130A>G	c.(130-132)ACC>GCC	p.T44A	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	keratin associated protein 10-9	44	25 X 5 AA repeats of C-C-X(3).					keratin filament					0						CCCCTGCCTGACCCTGGTCTG	0.697													G	46047218	A	G	46047218	3	3	104	1	0	0	0	0	1	0	0	0	8516	275	10	3	132	3	KRTAP10-9	21	46047218	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	69	46047218	2082677	6439	73053											
KRTAP12-4	386684	broad.mit.edu	37	chr21	46074227	46074227	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggtgctccaggtgacaggtCtatagaccagggtggggcag	18	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:46074227C>A	uc002zfs.1	-	1	350	c.305G>T	c.(304-306)AGA>ATA	p.R102I	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198698	NP_941971	P60329	KR124_HUMAN	keratin associated protein 12-4	102						keratin filament				ovary(1)	1						GGTGACAGGTCTATAGACCAG	0.617													A	46074227	C	A	46074227	3	1	104	1	0	0	0	0	1	0	0	0	8521	913	32	5	37	5	KRTAP12-4	21	46074227	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	27009	46074227	2055668	6440	73054											
KRTAP12-3	386683	broad.mit.edu	37	chr21	46078099	46078099	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccatcatatatgtgactcCctcttgccaatcttcggggt	8	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:46078099C>A	uc002zft.2	+	1	251	c.203C>A	c.(202-204)CCC>CAC	p.P68H	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198697	NP_941970	P60328	KR123_HUMAN	keratin associated protein 12-3	68	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)	1						TATGTGACTCCCTCTTGCCAA	0.647													A	46078099	C	A	46078099	3	1	104	1	0	0	0	0	1	0	0	0	8520	623	22	5	205	5	KRTAP12-3	21	46078099	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3872	46078099	2051796	6441	73055											
ITGB2	3689	broad.mit.edu	37	chr21	46309280	46309280	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcgcatacgttgcagcgGcaccggccacgaccactaca	9	17	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:46309280G>A	uc002zgd.2	-	12	1832	c.1788C>T	c.(1786-1788)TGC>TGT	p.C596C	ITGB2_uc002zge.2_Silent_p.C596C|ITGB2_uc002zgf.3_Silent_p.C596C|ITGB2_uc011afl.1_Silent_p.C518C|ITGB2_uc010gpw.2_Silent_p.C539C|ITGB2_uc002zgg.2_Silent_p.C596C	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	596	Extracellular (Potential).|Cysteine-rich tandem repeats.|IV.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	CGTTGCAGCGGCACCGGCCAC	0.657													A	46309280	G	A	46309280	2	1	104	1	0	0	0	0	0	0	0	1	7894	1195	42	2		2	ITGB2	21	46309280	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	231181	46309280	1820615	6442	73056											
ITGB2	3689	broad.mit.edu	37	chr21	46321485	46321485	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggaaatcagctgcttcccGacctcggtctgaaactggtt	10	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:46321485G>A	uc002zgd.2	-	5	707	c.663C>T	c.(661-663)GTC>GTT	p.V221V	ITGB2_uc002zge.2_Silent_p.V221V|ITGB2_uc002zgf.3_Silent_p.V221V|ITGB2_uc011afl.1_Silent_p.V143V|ITGB2_uc010gpw.2_Silent_p.V164V|ITGB2_uc002zgg.2_Silent_p.V221V	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	221	Extracellular (Potential).|VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCTGCTTCCCGACCTCGGTCT	0.622													A	46321485	G	A	46321485	2	1	104	1	0	0	0	0	0	0	0	1	7894	1045	37	1		1	ITGB2	21	46321485	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	12205	46321485	1808410	6443	73057											
ADARB1	104	broad.mit.edu	37	chr21	46624478	46624478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctccctccagctggaacgTggtgggcatccagggatccc	12	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:46624478T>C	uc002zgy.2	+	10	2129	c.1694T>C	c.(1693-1695)GTG>GCG	p.V565A	ADARB1_uc002zgr.2_Missense_Mutation_p.V565A|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.V525A|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.V525A|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	565	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		AGCTGGAACGTGGTGGGCATC	0.592													C	46624478	T	C	46624478	3	2	104	1	0	0	0	0	1	0	0	0	282	1696	59	3	1724	3	ADARB1	21	46624478	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	302993	46624478	1505417	6444	73058											
COL18A1	80781	broad.mit.edu	37	chr21	46896386	46896386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagcagaccacggtggcttCgttaggaggtaagctctttt	14	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:46896386C>T	uc011afs.1	+	5	2186	c.2165C>T	c.(2164-2166)TCG>TTG	p.S722L	COL18A1_uc002zhg.2_Missense_Mutation_p.S307L|COL18A1_uc002zhi.2_Missense_Mutation_p.S487L	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	722	Nonhelical region 1 (NC1).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		ACGGTGGCTTCGTTAGGAGGT	0.383													T	46896386	C	T	46896386	3	4	104	1	0	0	0	0	1	0	0	0	3675	893	31	1	2297	1	COL18A1	21	46896386	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	271908	46896386	1233509	6445	73059											
PCBP3	54039	broad.mit.edu	37	chr21	47359992	47359992	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaccaaaatcaatgaaattCgacagatgtctggagctcag	10	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:47359992C>T	uc002zhq.1	+	13	1083	c.958C>T	c.(958-960)CGA>TGA	p.R320*	PCBP3_uc002zhp.1_Nonsense_Mutation_p.R300*|PCBP3_uc002zhs.1_Nonsense_Mutation_p.R294*|PCBP3_uc002zhr.1_Nonsense_Mutation_p.R319*|PCBP3_uc002zht.1_Nonsense_Mutation_p.R310*	NM_020528	NP_065389	P57721	PCBP3_HUMAN	poly(rC) binding protein 3 isoform 1	320	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			skin(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CAATGAAATTCGACAGATGTC	0.537													T	47359992	C	T	47359992	4	4	104	1	0	0	0	0	0	1	0	0	11502	876	31	1	1008	1	PCBP3	21	47359992	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	463606	47359992	769903	6446	73060											
MCM3AP	8888	broad.mit.edu	37	chr21	47704119	47704119	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caacaaagccagtttcctttTtggcctccttgttgcccaga	7	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:47704119T>G	uc002zir.1	-	1	1118	c.1082A>C	c.(1081-1083)AAA>ACA	p.K361T	C21orf57_uc002zit.1_5'Flank|C21orf57_uc002ziu.1_5'Flank|C21orf57_uc002ziv.2_5'Flank|C21orf57_uc002ziw.2_5'Flank|C21orf57_uc002zix.2_5'Flank|C21orf57_uc010gqh.2_5'Flank|C21orf57_uc002ziy.2_5'Flank	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	361					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					AGTTTCCTTTTTGGCCTCCTT	0.507													G	47704119	T	G	47704119	3	3	104	1	0	0	0	0	1	0	0	0	9388	1841	64	5	4972	5	MCM3AP	21	47704119	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	344127	47704119	425776	6447	73061											
C21orf57	54059	broad.mit.edu	37	chr21	47706911	47706911	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatcgagattgtaaggagGattttaggagtgcagaaatt	13	2	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:47706911G>A	uc002ziv.2	+	2	513	c.84G>A	c.(82-84)AGG>AGA	p.R28R	C21orf57_uc002zit.1_Silent_p.R28R|C21orf57_uc002ziu.1_Silent_p.R28R|C21orf57_uc002ziw.2_Intron|C21orf57_uc002zix.2_Silent_p.R28R|C21orf57_uc010gqh.2_Intron|C21orf57_uc002ziy.2_Silent_p.R28R|MCM3AP_uc002zir.1_5'Flank	NM_058181	NP_478061	P58557	YBEY_HUMAN	hypothetical protein LOC54059 isoform 1	28							metal ion binding|metalloendopeptidase activity				0	Breast(49;0.112)			Colorectal(79;0.236)		TTGTAAGGAGGATTTTAGGAG	0.423													A	47706911	G	A	47706911	2	1	104	1	0	0	0	0	0	0	0	1	2128	1165	41	4		4	C21orf57	21	47706911	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2792	47706911	422984	6448	73062											
PCNT	5116	broad.mit.edu	37	chr21	47848442	47848442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaagctgcagcacttgcGcacggcgctgacaagcgcag	15	12	0	2	rs140173772		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr21:47848442G>A	uc002zji.3	+	35	7735	c.7628G>A	c.(7627-7629)CGC>CAC	p.R2543H	PCNT_uc002zjj.2_Missense_Mutation_p.R2425H	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2543	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					CAGCACTTGCGCACGGCGCTG	0.697													A	47848442	G	A	47848442	3	1	104	1	0	0	0	0	1	0	0	0	11590	1087	38	1	7766	1	PCNT	21	47848442	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	141531	47848442	281453	6449	73063											
CCT8L2	150160	broad.mit.edu	37	chr22	17071789	17071789	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agttattcaatccaaggattTtttttgtttccacaggaggt	8	6	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:17071789T>G	uc002zlp.1	-	1	1912	c.1652A>C	c.(1651-1653)AAA>ACA	p.K551T		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	551					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCCAAGGATTTTTTTTGTTTC	0.408													G	17071789	T	G	17071789	3	3	104	1	0	0	0	0	1	0	0	0	2961	1841	64	5	25	5	CCT8L2	22	17071789	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08		17071789	34232777	6450	73064											
GAB4	128954	broad.mit.edu	37	chr22	17447013	17447013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggttaggcttgaggctgCggttgacagggggcagctgg	19	7	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:17447013C>T	uc002zlw.2	-	6	1373	c.1265G>A	c.(1264-1266)CGC>CAC	p.R422H	GAB4_uc010gqs.1_3'UTR	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	422										large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CTTGAGGCTGCGGTTGACAGG	0.532													T	17447013	C	T	17447013	3	4	104	1	0	0	0	0	1	0	0	0	6151	768	27	1	479	1	GAB4	22	17447013	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	375224	17447013	33857553	6451	73065											
GAB4	128954	broad.mit.edu	37	chr22	17447056	17447056	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcatgtccctggctgaggtCttggtgcatagaaagctctg	12	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:17447056C>A	uc002zlw.2	-	6	1330	c.1222G>T	c.(1222-1224)GAC>TAC	p.D408Y	GAB4_uc010gqs.1_3'UTR	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	408										large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGGCTGAGGTCTTGGTGCATA	0.542													A	17447056	C	A	17447056	3	1	104	1	0	0	0	0	1	0	0	0	6151	913	32	5	522	5	GAB4	22	17447056	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	43	17447056	33857510	6452	73066											
CECR1	51816	broad.mit.edu	37	chr22	17662438	17662438	+	Missense_Mutation	SNP	T	T	G													ccagatttccatgaaagtatTtttctcactctccaacaggg							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:17662438T>G	uc002zmk.1	-	9	1683	c.1471A>C	c.(1471-1473)AAT>CAT	p.N491H	CECR1_uc010gqu.1_Missense_Mutation_p.N491H|CECR1_uc011agi.1_Missense_Mutation_p.N449H|CECR1_uc002zmj.1_Missense_Mutation_p.N250H	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	cat eye syndrome critical region protein 1	491					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			ovary(1)	1		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				ATGAAAGTATTTTTCTCACTC	0.527													G	17662438	T	G	17662438	3	3	104	1	0	0	0	0	1	0	0	0	3205	1841	64	5	68	5	CECR1	22	17662438	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	215382	17662438	33642128	6453	73067	331	2									
CECR1	51816	broad.mit.edu	37	chr22	17662442	17662442	+	Silent	SNP	C	C	T													atttccatgaaagtatttttCtcactctccaacagggtact					rs61738625	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:17662442C>T	uc002zmk.1	-	9	1679	c.1467G>A	c.(1465-1467)GAG>GAA	p.E489E	CECR1_uc010gqu.1_Silent_p.E489E|CECR1_uc011agi.1_Silent_p.E447E|CECR1_uc002zmj.1_Silent_p.E248E	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	cat eye syndrome critical region protein 1	489					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			ovary(1)	1		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				AAGTATTTTTCTCACTCTCCA	0.527													T	17662442	C	T	17662442	2	4	104	1	0	0	0	0	0	0	0	1	3205	912	32	4		4	CECR1	22	17662442	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	4	17662442	33642124	6454	73068	331	2									
CECR2	27443	broad.mit.edu	37	chr22	17976436	17976436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttggggccctggtctaggCctcagacattccacagctac	11	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:17976436C>T	uc010gqw.1	+	2	223	c.97C>T	c.(97-99)CCT>TCT	p.P33S	CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'Flank	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	75					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		CTGGTCTAGGCCTCAGACATT	0.483													T	17976436	C	T	17976436	3	4	104	1	0	0	0	0	1	0	0	0	3206	753	26	2	105	2	CECR2	22	17976436	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	313994	17976436	33328130	6455	73069											
CECR2	27443	broad.mit.edu	37	chr22	18028975	18028975	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcaggaatgggatttggttCatctgcatttccaccccaca	8	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:18028975C>T	uc010gqw.1	+	16	4058	c.3932C>T	c.(3931-3933)TCA>TTA	p.S1311L	CECR2_uc010gqv.1_Missense_Mutation_p.S1169L|CECR2_uc002zml.2_Missense_Mutation_p.S1170L|CECR2_uc002zmo.2_RNA	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1353					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		GGATTTGGTTCATCTGCATTT	0.572													T	18028975	C	T	18028975	3	4	104	1	0	0	0	0	1	0	0	0	3206	838	29	4	3996	4	CECR2	22	18028975	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	52539	18028975	33275591	6456	73070											
MICAL3	57553	broad.mit.edu	37	chr22	18348745	18348745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgtgcgtagccagagagtCgatagcagtagtgtggctta	14	6	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:18348745C>T	uc002zng.3	-	18	2815	c.2462G>A	c.(2461-2463)CGA>CAA	p.R821Q	MICAL3_uc011agl.1_Missense_Mutation_p.R821Q|MICAL3_uc002znh.2_Missense_Mutation_p.R821Q|MICAL3_uc002znj.1_Missense_Mutation_p.R549Q|MICAL3_uc002znk.1_Missense_Mutation_p.R821Q|MICAL3_uc002znl.1_Missense_Mutation_p.R454Q|MICAL3_uc002znm.2_Missense_Mutation_p.R322Q|MICAL3_uc010grf.2_Missense_Mutation_p.R945Q	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	821	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		GCCAGAGAGTCGATAGCAGTA	0.562													T	18348745	C	T	18348745	3	4	104	1	0	0	0	0	1	0	0	0	9571	884	31	1	3955	1	MICAL3	22	18348745	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	319770	18348745	32955821	6457	73071											
DGCR2	9993	broad.mit.edu	37	chr22	19026632	19026632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacaggctcaaaagcatcatCgtctgcaggaagagacagag	11	10	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:19026632C>T	uc002zoq.1	-	10	1647	c.1399G>A	c.(1399-1401)GAT>AAT	p.D467N	DGCR2_uc002zor.1_Missense_Mutation_p.D243N|DGCR2_uc011agr.1_Missense_Mutation_p.D423N	NM_005137	NP_005128	P98153	IDD_HUMAN	integral membrane protein DGCR2 precursor	467	Cytoplasmic (Potential).				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			large_intestine(1)	1	Colorectal(54;0.0993)					AAAGCATCATCGTCTGCAGGA	0.627													T	19026632	C	T	19026632	3	4	104	1	0	0	0	0	1	0	0	0	4461	884	31	1	257	1	DGCR2	22	19026632	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	677887	19026632	32277934	6458	73072											
CLTCL1	8218	broad.mit.edu	37	chr22	19170998	19170998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcaagcaccatgtctgggcGaagcaggtcatagcaggtga	13	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:19170998G>A	uc002zpb.2	-	31	4807	c.4732C>T	c.(4732-4734)CGC>TGC	p.R1578C	CLTCL1_uc011agv.1_Missense_Mutation_p.R1521C|CLTCL1_uc011agw.1_Missense_Mutation_p.R1557C|CLTCL1_uc011agt.1_Missense_Mutation_p.R369C|CLTCL1_uc011agu.1_Missense_Mutation_p.R275C	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	1578	Proximal segment.|Trimerization (By similarity).|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					ATGTCTGGGCGAAGCAGGTCA	0.587			T	?	ALCL								A	19170998	G	A	19170998	3	1	104	1	0	0	0	0	1	0	0	0	3567	1058	37	1	202	1	CLTCL1	22	19170998	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	144366	19170998	32133568	6459	73073											
CLTCL1	8218	broad.mit.edu	37	chr22	19203720	19203720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaaggctttgacagtgaccGaaatctcttcaggatcccgt	9	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:19203720G>A	uc002zpb.2	-	19	3041	c.2966C>T	c.(2965-2967)TCG>TTG	p.S989L	CLTCL1_uc011agv.1_Missense_Mutation_p.S989L|CLTCL1_uc011agw.1_Missense_Mutation_p.S989L|CLTCL1_uc002zpe.2_5'Flank|CLTCL1_uc002zpd.1_5'Flank	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	989	Proximal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					GACAGTGACCGAAATCTCTTC	0.423			T	?	ALCL								A	19203720	G	A	19203720	3	1	104	1	0	0	0	0	1	0	0	0	3567	1059	37	1	2012	1	CLTCL1	22	19203720	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	32722	19203720	32100846	6460	73074											
CLTCL1	8218	broad.mit.edu	37	chr22	19211552	19211552	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtcttggctgaagttcacGattgagcccaggaagtagaa	14	7	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:19211552G>A	uc002zpb.2	-	14	2229	c.2154C>T	c.(2152-2154)ATC>ATT	p.I718I	CLTCL1_uc011agv.1_Silent_p.I718I|CLTCL1_uc011agw.1_Silent_p.I718I	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	718	Proximal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					TGAAGTTCACGATTGAGCCCA	0.517			T	?	ALCL								A	19211552	G	A	19211552	2	1	104	1	0	0	0	0	0	0	0	1	3567	1048	37	1		1	CLTCL1	22	19211552	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	7832	19211552	32093014	6461	73075											
CLTCL1	8218	broad.mit.edu	37	chr22	19221116	19221116	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcgggtatactctggaatttCtggaccgtctctctggtacg	12	10	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:19221116C>T	uc002zpb.2	-	8	1272	c.1197G>A	c.(1195-1197)CAG>CAA	p.Q399Q	CLTCL1_uc011agv.1_Silent_p.Q399Q|CLTCL1_uc011agw.1_Silent_p.Q399Q	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	399	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					TCTGGAATTTCTGGACCGTCT	0.463			T	?	ALCL								T	19221116	C	T	19221116	2	4	104	1	0	0	0	0	0	0	0	1	3567	912	32	4		4	CLTCL1	22	19221116	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	9564	19221116	32083450	6462	73076											
CLDN5	7122	broad.mit.edu	37	chr22	19511134	19511134	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagcgccctcagacgtagttCttcttgtcgtagtcgccggt	11	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:19511134C>A	uc002zpu.2	-	2	1115	c.900G>T	c.(898-900)AAG>AAT	p.K300N	CLDN5_uc010grr.2_Missense_Mutation_p.K300N	NM_003277	NP_003268	O00501	CLD5_HUMAN	claudin 5	215	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0	Colorectal(54;0.0993)					AGACGTAGTTCTTCTTGTCGT	0.721													A	19511134	C	A	19511134	3	1	104	1	0	0	0	0	1	0	0	0	3488	912	32	5	15	5	CLDN5	22	19511134	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	290018	19511134	31793432	6463	73077											
RIMBP3	85376	broad.mit.edu	37	chr22	20458539	20458539	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctccagagcttcatcctgCcccgctgggagttgactggg	12	14	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:20458539C>T	uc002zsd.3	-	1	3248	c.2763G>A	c.(2761-2763)GGG>GGA	p.G921G		NM_015672	NP_056487			RIMS binding protein 3												0	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CTTCATCCTGCCCCGCTGGGA	0.597													T	20458539	C	T	20458539	2	4	104	1	0	0	0	0	0	0	0	1	13364	726	26	2		2	RIMBP3	22	20458539	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	947405	20458539	30846027	6464	73078											
ZNF74	7625	broad.mit.edu	37	chr22	20761251	20761251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccctggggagcaaacctcGaaactaacatgatgtgcttt	9	11	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:20761251G>A	uc010gsm.2	+	6	2140	c.1928G>A	c.(1927-1929)CGA>CAA	p.R643Q	ZNF74_uc002zsg.2_Missense_Mutation_p.R572Q|ZNF74_uc002zsh.2_Missense_Mutation_p.R643Q|ZNF74_uc002zsi.2_Missense_Mutation_p.R572Q|ZNF74_uc010gsn.2_Missense_Mutation_p.R572Q	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	643					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGCAAACCTCGAAACTAACAT	0.547													A	20761251	G	A	20761251	3	1	104	1	0	0	0	0	1	0	0	0	18124	1058	37	1	1946	1	ZNF74	22	20761251	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	302712	20761251	30543315	6465	73079											
PI4KA	5297	broad.mit.edu	37	chr22	21075682	21075682	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggatttagacgctgcccacaGaatatactcccgcacatagc	8	13	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:21075682G>A	uc002zsz.3	-	43	5077	c.4846C>T	c.(4846-4848)CTG>TTG	p.L1616L	PI4KA_uc010gsp.2_Silent_p.L9L|PI4KA_uc002zsy.3_Silent_p.L426L	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	1616					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GCTGCCCACAGAATATACTCC	0.542													A	21075682	G	A	21075682	2	1	104	1	0	0	0	0	0	0	0	1	11873	933	33	4		4	PI4KA	22	21075682	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	314431	21075682	30228884	6466	73080											
SERPIND1	3053	broad.mit.edu	37	chr22	21133888	21133888	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacgactacatcgacatcgtCgacagtctgtcagtttcccc	8	14	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:21133888C>T	uc002ztb.1	+	2	355	c.288C>T	c.(286-288)GTC>GTT	p.V96V	PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Silent_p.V124V	NM_000185	NP_000176	P05546	HEP2_HUMAN	heparin cofactor II precursor	96	2 X 11 AA approximate repeats, Asp/Glu- rich (acidic) (hirudin-like).|2.				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity				0	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	TCGACATCGTCGACAGTCTGT	0.527													T	21133888	C	T	21133888	2	4	104	1	0	0	0	0	0	0	0	1	14110	871	31	1		1	SERPIND1	22	21133888	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	58206	21133888	30170678	6467	73081											
CRKL	1399	broad.mit.edu	37	chr22	21288167	21288167	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtatgattttcctgggaatGatgccgaagacctgcccttt	10	9	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:21288167G>T	uc002ztf.2	+	2	921	c.412G>T	c.(412-414)GAT>TAT	p.D138Y	CRKL_uc002ztg.1_RNA	NM_005207	NP_005198	P46109	CRKL_HUMAN	v-crk sarcoma virus CT10 oncogene homolog	138	SH3 1.				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity				0	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			TCCTGGGAATGATGCCGAAGA	0.502													T	21288167	G	T	21288167	3	4	104	1	0	0	0	0	1	0	0	0	3885	1290	45	5	418	5	CRKL	22	21288167	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	154279	21288167	30016399	6468	73082											
AIFM3	150209	broad.mit.edu	37	chr22	21327599	21327599	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctgccttgcccacagtggAgctcaagatcgaggtggtgc	14	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:21327599A>C	uc002ztj.2	+	3	253	c.35A>C	c.(34-36)GAG>GCG	p.E12A	AIFM3_uc002ztk.2_Missense_Mutation_p.E12A|AIFM3_uc002ztl.2_Missense_Mutation_p.E18A|AIFM3_uc011ahx.1_Missense_Mutation_p.S37R|AIFM3_uc002ztm.1_5'Flank	NM_144704	NP_653305	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor,	12					activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport	endoplasmic reticulum|mitochondrial inner membrane	2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding			ovary(2)|lung(2)	4	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCCACAGTGGAGCTCAAGATC	0.672													C	21327599	A	C	21327599	3	2	104	1	0	0	0	0	1	0	0	0	428	304	11	5	59	5	AIFM3	22	21327599	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	39432	21327599	29976967	6469	73083											
P2RX6	9127	broad.mit.edu	37	chr22	21372283	21372283	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agacttgcctcctagggagaGaacgtgttcttcttggtgac	12	9	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:21372283G>T	uc010gsu.1	+	3	321	c.321G>T	c.(319-321)GAG>GAT	p.E107D	P2RX6_uc002ztz.2_Missense_Mutation_p.E81D|P2RX6_uc010gst.1_3'UTR|P2RX6_uc002zua.2_Intron|P2RX6_uc002zuc.1_RNA	NM_005446	NP_005437	O15547	P2RX6_HUMAN	purinergic receptor P2X6 isoform 1	107	Extracellular (Potential).				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0						CCTAGGGAGAGAACGTGTTCT	0.587													T	21372283	G	T	21372283	3	4	104	1	0	0	0	0	1	0	0	0	11344	933	33	5	331	5	P2RX6	22	21372283	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	44684	21372283	29932283	6470	73084											
CCDC116	164592	broad.mit.edu	37	chr22	21989197	21989197	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcaagtcattactgagccAgctggagtccctcgacctgc	10	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:21989197A>C	uc002zve.2	+	4	938	c.845A>C	c.(844-846)CAG>CCG	p.Q282P	CCDC116_uc011aih.1_Missense_Mutation_p.Q282P	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	282										ovary(1)|skin(1)	2	Colorectal(54;0.105)					TTACTGAGCCAGCTGGAGTCC	0.597													C	21989197	A	C	21989197	3	2	104	1	0	0	0	0	1	0	0	0	2753	188	7	5	855	5	CCDC116	22	21989197	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	616914	21989197	29315369	6471	73085											
ZNF280B	140883	broad.mit.edu	37	chr22	22842885	22842885	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactaagtaacacaatgggaTtttctttcttgggatcaaag	8	7	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:22842885T>C	uc002zwc.1	-	4	1615	c.839A>G	c.(838-840)AAT>AGT	p.N280S	LOC96610_uc011aim.1_Intron	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CACAATGGGATTTTCTTTCTT	0.393													C	22842885	T	C	22842885	3	2	104	1	0	0	0	0	1	0	0	0	17812	1493	52	3	796	3	ZNF280B	22	22842885	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	853688	22842885	28461681	6472	73086											
PRAME	23532	broad.mit.edu	37	chr22	22892500	22892500	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtagtacatttttctttcGcttcactttctcaatgaggt	7	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:22892500G>A	uc002zwf.2	-	4	757	c.601C>T	c.(601-603)CGA>TGA	p.R201*	LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Nonsense_Mutation_p.R185*|PRAME_uc010gtr.2_Nonsense_Mutation_p.R201*|PRAME_uc002zwg.2_Nonsense_Mutation_p.R201*|PRAME_uc002zwh.2_Nonsense_Mutation_p.R201*|PRAME_uc002zwi.2_Nonsense_Mutation_p.R201*|PRAME_uc002zwj.2_Nonsense_Mutation_p.R201*|PRAME_uc002zwk.2_Nonsense_Mutation_p.R201*	NM_206956	NP_996839	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	201					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			central_nervous_system(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TTTTTCTTTCGCTTCACTTTC	0.468													A	22892500	G	A	22892500	4	1	104	1	0	0	0	0	0	1	0	0	12424	1095	38	1	936	1	PRAME	22	22892500	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	49615	22892500	28412066	6473	73087											
BCR	613	broad.mit.edu	37	chr22	23613760	23613760	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagatgccaaggatccaacGaccaagaactctctggaaag	9	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:23613760G>A	uc002zww.2	+	6	2498	c.1902G>A	c.(1900-1902)ACG>ACA	p.T634T	BCR_uc002zwx.2_Silent_p.T634T|BCR_uc011aiy.1_Silent_p.T223T|BCR_uc010gtx.1_Silent_p.T101T	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	634	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						AGGATCCAACGACCAAGAACT	0.527			T	ABL1| FGFR1|JAK2 	CML|ALL|AML								A	23613760	G	A	23613760	2	1	104	1	0	0	0	0	0	0	0	1	1388	1045	37	1		1	BCR	22	23613760	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	721260	23613760	27690806	6474	73088											
CABIN1	23523	broad.mit.edu	37	chr22	24456571	24456571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaccagcctgcccaacccGctgctgagggactgcagcaa	11	16	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:24456571G>A	uc002zzi.1	+	12	1711	c.1584G>A	c.(1582-1584)CCG>CCA	p.P528P	CABIN1_uc002zzj.1_Silent_p.P478P|CABIN1_uc002zzl.1_Silent_p.P528P	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	528					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						TGCCCAACCCGCTGCTGAGGG	0.607													A	24456571	G	A	24456571	2	1	104	1	0	0	0	0	0	0	0	1	2528	1074	38	1		1	CABIN1	22	24456571	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	842811	24456571	26847995	6475	73089											
CABIN1	23523	broad.mit.edu	37	chr22	24468452	24468452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcagctccaaaacccagCggaggaaggtgcacaggcag	14	12	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:24468452C>T	uc002zzi.1	+	18	2751	c.2624C>T	c.(2623-2625)GCG>GTG	p.A875V	CABIN1_uc002zzj.1_Missense_Mutation_p.A825V|CABIN1_uc002zzl.1_Missense_Mutation_p.A875V	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	875					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						CAAAACCCAGCGGAGGAAGGT	0.582													T	24468452	C	T	24468452	3	4	104	1	0	0	0	0	1	0	0	0	2528	768	27	1	2690	1	CABIN1	22	24468452	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	11881	24468452	26836114	6476	73090											
CABIN1	23523	broad.mit.edu	37	chr22	24472128	24472128	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctttccctagggatgtcagaGacgcccatgctcccatcctc	8	16	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:24472128G>A	uc002zzi.1	+	19	2770	c.2643G>A	c.(2641-2643)GAG>GAA	p.E881E	CABIN1_uc002zzj.1_Silent_p.E831E|CABIN1_uc002zzl.1_Silent_p.E881E	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	881					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GGATGTCAGAGACGCCCATGC	0.597													A	24472128	G	A	24472128	2	1	104	1	0	0	0	0	0	0	0	1	2528	933	33	4		4	CABIN1	22	24472128	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3676	24472128	26832438	6477	73091											
GGT5	2687	broad.mit.edu	37	chr22	24616052	24616052	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagggcctctgggtctggttCtggccacggtcttggagtcc	15	11	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:24616052C>A	uc002zzo.3	-	12	2064	c.1647G>T	c.(1645-1647)CAG>CAT	p.Q549H	GGT5_uc002zzp.3_Missense_Mutation_p.Q550H|GGT5_uc002zzr.3_Missense_Mutation_p.Q517H|GGT5_uc002zzq.3_3'UTR|GGT5_uc011ajm.1_Missense_Mutation_p.Q473H	NM_004121	NP_004112	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5 isoform b	549	Extracellular (Potential).				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(2)|skin(1)	3						GGGTCTGGTTCTGGCCACGGT	0.642													A	24616052	C	A	24616052	3	1	104	1	0	0	0	0	1	0	0	0	6362	912	32	5	117	5	GGT5	22	24616052	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	143924	24616052	26688514	6478	73092											
ADORA2A	135	broad.mit.edu	37	chr22	24837105	24837105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccgtatccgcgagttccGccagaccttccgcaagatca	8	16	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:24837105G>A	uc002zzx.2	+	5	1650	c.887G>A	c.(886-888)CGC>CAC	p.R296H	ADORA2A_uc002zzy.3_Missense_Mutation_p.R296H|ADORA2A_uc011ajs.1_Missense_Mutation_p.R157H|ADORA2A_uc010gup.2_Missense_Mutation_p.R296H|ADORA2A_uc010guq.2_Missense_Mutation_p.R296H|ADORA2A_uc003aab.2_Missense_Mutation_p.R296H|ADORA2A_uc003aac.2_Missense_Mutation_p.R157H|C22orf45_uc003aad.1_Intron	NM_000675	NP_000666	P29274	AA2AR_HUMAN	adenosine A2a receptor	296	Cytoplasmic.				apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding				0	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CGCGAGTTCCGCCAGACCTTC	0.592													A	24837105	G	A	24837105	3	1	104	1	0	0	0	0	1	0	0	0	327	1087	38	1	893	1	ADORA2A	22	24837105	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	221053	24837105	26467461	6479	73093											
SGSM1	129049	broad.mit.edu	37	chr22	25240909	25240909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgacacgcaagtttgtccacGaagacagcagccacatcatc	8	13	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:25240909G>A	uc003abg.2	+	3	266	c.109G>A	c.(109-111)GAA>AAA	p.E37K	SGSM1_uc003abh.2_Missense_Mutation_p.E37K|SGSM1_uc010guu.1_Missense_Mutation_p.E37K|SGSM1_uc003abj.2_Missense_Mutation_p.E37K|SGSM1_uc003abi.1_Missense_Mutation_p.E12K|SGSM1_uc003abf.2_Missense_Mutation_p.E37K	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	37	RUN.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						GTTTGTCCACGAAGACAGCAG	0.567													A	25240909	G	A	25240909	3	1	104	1	0	0	0	0	1	0	0	0	14222	1059	37	1	119	1	SGSM1	22	25240909	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	403804	25240909	26063657	6480	73094											
MYO18B	84700	broad.mit.edu	37	chr22	26159197	26159197	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttccttgcttctgcaaaacaGattcgggaagaggacaagag	11	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:26159197G>T	uc003abz.1	+	3	290	c.40_splice	c.e3-1	p.I14_splice	MYO18B_uc003aca.1_5'Flank|MYO18B_uc010guy.1_5'Flank|MYO18B_uc010guz.1_5'Flank|MYO18B_uc011aka.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB							nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CTGCAAAACAGATTCGGGAAG	0.562													T	26159197	G	T	26159197	5	4	104	1	0	0	0	0	0	0	1	0	10066	956	33	5	45	5	MYO18B	22	26159197	Splice_Site	SNP	G	TCGA-BR-8680-01A-11D-2394-08	918288	26159197	25145369	6481	73095											
SEZ6L	23544	broad.mit.edu	37	chr22	26747069	26747069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcactcgacccgcttaatttCggatcctgtgctgctggtgg	11	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:26747069C>T	uc003acb.2	+	12	2615	c.2459C>T	c.(2458-2460)TCG>TTG	p.S820L	SEZ6L_uc003acc.2_Missense_Mutation_p.S820L|SEZ6L_uc011akc.1_Missense_Mutation_p.S820L|SEZ6L_uc003acd.2_Intron|SEZ6L_uc011akd.1_Missense_Mutation_p.S820L|SEZ6L_uc003ace.2_Missense_Mutation_p.S820L|SEZ6L_uc003acf.1_Missense_Mutation_p.S593L|SEZ6L_uc010gvc.1_Missense_Mutation_p.S593L|SEZ6L_uc011ake.1_RNA	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	820	Sushi 4.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						CGCTTAATTTCGGATCCTGTG	0.547													T	26747069	C	T	26747069	3	4	104	1	0	0	0	0	1	0	0	0	14143	893	31	1	2505	1	SEZ6L	22	26747069	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	587872	26747069	24557497	6482	73096											
SEZ6L	23544	broad.mit.edu	37	chr22	26747191	26747191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggactcccatctggacgtctCgcctgccccactgcgtttgt	10	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:26747191C>T	uc003acb.2	+	12	2737	c.2581C>T	c.(2581-2583)CGC>TGC	p.R861C	SEZ6L_uc003acc.2_Missense_Mutation_p.R861C|SEZ6L_uc011akc.1_Missense_Mutation_p.R861C|SEZ6L_uc003acd.2_Intron|SEZ6L_uc011akd.1_Missense_Mutation_p.R861C|SEZ6L_uc003ace.2_Missense_Mutation_p.R861C|SEZ6L_uc003acf.1_Missense_Mutation_p.R634C|SEZ6L_uc010gvc.1_Missense_Mutation_p.R634C|SEZ6L_uc011ake.1_RNA	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	861	Sushi 4.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						CTGGACGTCTCGCCTGCCCCA	0.532													T	26747191	C	T	26747191	3	4	104	1	0	0	0	0	1	0	0	0	14143	884	31	1	2627	1	SEZ6L	22	26747191	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	122	26747191	24557375	6483	73097											
CCDC117	150275	broad.mit.edu	37	chr22	29177000	29177000	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctggtcctaatgactggattCtttgtgcacatcaggatgta	10	8	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:29177000C>A	uc003aeb.2	+	3	480	c.304C>A	c.(304-306)CTT>ATT	p.L102I	CCDC117_uc011aki.1_Missense_Mutation_p.L84I|CCDC117_uc011akj.1_Intron|CCDC117_uc011akk.1_5'UTR	NM_173510	NP_775781	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	102				L -> P (in Ref. 2; BAC03592).						breast(1)	1						TGACTGGATTCTTTGTGCACA	0.388													A	29177000	C	A	29177000	3	1	104	1	0	0	0	0	1	0	0	0	2754	913	32	5	314	5	CCDC117	22	29177000	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2429809	29177000	22127566	6484	73098											
AP1B1	162	broad.mit.edu	37	chr22	29754901	29754901	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgtgatcttgtcaacgcgGatgcagcccatggtccgcac	11	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:29754901G>A	uc003afj.2	-	5	523	c.339C>T	c.(337-339)ATC>ATT	p.I113I	AP1B1_uc003afi.2_Silent_p.I113I|AP1B1_uc003afk.2_Silent_p.I113I|AP1B1_uc003afl.2_Silent_p.I113I	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	113					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						TGTCAACGCGGATGCAGCCCA	0.632													A	29754901	G	A	29754901	2	1	104	1	0	0	0	0	0	0	0	1	731	1164	41	4		4	AP1B1	22	29754901	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	577901	29754901	21549665	6485	73099											
THOC5	8563	broad.mit.edu	37	chr22	29908111	29908111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagggttcaacaccacagCggcctgcagtttggctggga	14	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:29908111C>T	uc003afr.2	-	19	2031	c.1696G>A	c.(1696-1698)GCT>ACT	p.A566T	THOC5_uc003afq.2_Missense_Mutation_p.A227T|THOC5_uc003afs.2_Missense_Mutation_p.A566T|THOC5_uc003aft.2_Missense_Mutation_p.A566T|THOC5_uc003afu.2_Missense_Mutation_p.A566T|THOC5_uc010gvo.2_Missense_Mutation_p.A310T	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN	THO complex 5	566					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			breast(3)	3						AACACCACAGCGGCCTGCAGT	0.557													T	29908111	C	T	29908111	3	4	104	1	0	0	0	0	1	0	0	0	15865	768	27	1	367	1	THOC5	22	29908111	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	153210	29908111	21396455	6486	73100											
MTMR3	8897	broad.mit.edu	37	chr22	30374969	30374969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagcacagagtttgtgggCcgtgccgaggatgccatcat	15	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:30374969C>T	uc003agv.3	+	5	466	c.138C>T	c.(136-138)GGC>GGT	p.G46G	MTMR3_uc003agu.3_Silent_p.G46G|MTMR3_uc003agw.3_Silent_p.G46G	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	46					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AGTTTGTGGGCCGTGCCGAGG	0.423													T	30374969	C	T	30374969	2	4	104	1	0	0	0	0	0	0	0	1	9945	726	26	2		2	MTMR3	22	30374969	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	466858	30374969	20929597	6487	73101											
SEC14L4	284904	broad.mit.edu	37	chr22	30891949	30891949	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcggatttctgcaggtcaAagtttcgagctgcaagaaga	11	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:30891949A>C	uc003aid.2	-	3	240	c.140T>G	c.(139-141)TTT>TGT	p.F47C	SEC14L4_uc011akz.1_Missense_Mutation_p.F47C|SEC14L4_uc003aie.2_Missense_Mutation_p.L16V|SEC14L4_uc003aif.2_5'UTR	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	SEC14p-like protein TAP3 isoform a	47						integral to membrane|intracellular	lipid binding|transporter activity			skin(1)	1					Vitamin E(DB00163)	CTGCAGGTCAAAGTTTCGAGC	0.498													C	30891949	A	C	30891949	3	2	104	1	0	0	0	0	1	0	0	0	13984	14	1	5	1126	5	SEC14L4	22	30891949	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	516980	30891949	20412617	6488	73102											
SMTN	6525	broad.mit.edu	37	chr22	31484584	31484584	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaacgatgtggaggaattgActgcactggtgaggcccagg	16	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:31484584A>G	uc003ajl.1	+	4	504	c.286A>G	c.(286-288)ACT>GCT	p.T96A	SMTN_uc003ajk.1_Missense_Mutation_p.T96A|SMTN_uc003ajm.1_Missense_Mutation_p.T96A|SMTN_uc011ale.1_Missense_Mutation_p.T150A|SMTN_uc011alf.1_Missense_Mutation_p.T152A|SMTN_uc003ajn.1_Missense_Mutation_p.T88A|SMTN_uc011alg.1_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	96					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						GGAGGAATTGACTGCACTGGT	0.642													G	31484584	A	G	31484584	3	3	104	1	0	0	0	0	1	0	0	0	14814	275	10	3	296	3	SMTN	22	31484584	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	592635	31484584	19819982	6489	73103											
INPP5J	27124	broad.mit.edu	37	chr22	31521798	31521798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaagccactccccgaatcGctctccctgtgttcccccag	6	21	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:31521798G>A	uc003aju.3	+	2	1165	c.1073G>A	c.(1072-1074)CGC>CAC	p.R358H	INPP5J_uc010gwf.2_Missense_Mutation_p.R358H|INPP5J_uc003ajv.3_Intron|INPP5J_uc003ajs.3_Intron|INPP5J_uc011alk.1_Missense_Mutation_p.R291H|INPP5J_uc010gwg.2_Intron|INPP5J_uc003ajw.2_Intron|INPP5J_uc003ajt.3_Intron|INPP5J_uc003ajx.2_5'Flank|INPP5J_uc003ajy.2_5'Flank|INPP5J_uc003ajz.2_5'Flank	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	phosphatidylinositol (4,5) bisphosphate	358	Pro-rich.					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			skin(1)	1						TCCCCGAATCGCTCTCCCTGT	0.682													A	31521798	G	A	31521798	3	1	104	1	0	0	0	0	1	0	0	0	7759	1102	38	1		1	INPP5J	22	31521798	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	37214	31521798	19782768	6490	73104											
PIK3IP1	113791	broad.mit.edu	37	chr22	31685536	31685536	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcatccgcacccgctggcTgatcccaatcactggctgca	9	16	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:31685536T>G	uc003akm.2	-	4	647	c.457A>C	c.(457-459)AGC>CGC	p.S153R	PIK3IP1_uc003akl.2_RNA|PIK3IP1_uc011alo.1_Missense_Mutation_p.S153R|PIK3IP1_uc003akn.2_Missense_Mutation_p.S133R|PIK3IP1_uc003ako.2_Missense_Mutation_p.S153R	NM_052880	NP_443112	Q96FE7	P3IP1_HUMAN	HGFL protein isoform 1	153	Extracellular (Potential).					integral to membrane				ovary(1)	1						ACCCGCTGGCTGATCCCAATC	0.612													G	31685536	T	G	31685536	3	3	104	1	0	0	0	0	1	0	0	0	11917	1580	55	5	346	5	PIK3IP1	22	31685536	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	163738	31685536	19619030	6491	73105											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31884627	31884627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttttgtatagcgatggggGcatttggaggcaggaggctt	16	5	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:31884627G>A	uc003akz.1	-	2	242	c.78C>T	c.(76-78)TGC>TGT	p.C26C	EIF4ENIF1_uc003ala.1_Silent_p.C26C|EIF4ENIF1_uc003alb.1_Silent_p.C26C|EIF4ENIF1_uc003alc.1_Silent_p.C26C	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E	26						nucleus	protein binding|protein transporter activity			ovary(1)	1						AGCGATGGGGGCATTTGGAGG	0.408													A	31884627	G	A	31884627	2	1	104	1	0	0	0	0	0	0	0	1	5035	1195	42	2		2	EIF4ENIF1	22	31884627	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	199091	31884627	19419939	6492	73106											
SFI1	9814	broad.mit.edu	37	chr22	31998258	31998258	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatgtttcagcatcgagaAaaccgcctggcagagagaat	11	8	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:31998258A>C	uc003ale.2	+	16	1998	c.1605A>C	c.(1603-1605)GAA>GAC	p.E535D	SFI1_uc003ald.1_Missense_Mutation_p.E511D|SFI1_uc003alf.2_Missense_Mutation_p.E504D|SFI1_uc003alg.2_Missense_Mutation_p.E453D|SFI1_uc011alp.1_Missense_Mutation_p.E453D|SFI1_uc011alq.1_Missense_Mutation_p.E480D|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	535					G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						AGCATCGAGAAAACCGCCTGG	0.468													C	31998258	A	C	31998258	3	2	104	1	0	0	0	0	1	0	0	0	14156	11	1	5	1663	5	SFI1	22	31998258	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	113631	31998258	19306308	6493	73107											
YWHAH	7533	broad.mit.edu	37	chr22	32352264	32352264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaccatggctgatggaaacGaaaagaaattggagaaagtt	11	4	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:32352264G>A	uc003alz.2	+	2	467	c.226G>A	c.(226-228)GAA>AAA	p.E76K	YWHAH_uc010gwl.2_Missense_Mutation_p.E6K|YWHAH_uc003ama.2_Missense_Mutation_p.E6K|YWHAH_uc010gwm.2_Missense_Mutation_p.E63K	NM_003405	NP_003396	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan	76					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			central_nervous_system(1)	1						TGATGGAAACGAAAAGAAATT	0.463													A	32352264	G	A	32352264	3	1	104	1	0	0	0	0	1	0	0	0	17501	1059	37	1	232	1	YWHAH	22	32352264	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	354006	32352264	18952302	6494	73108											
RFPL3	10738	broad.mit.edu	37	chr22	32754255	32754255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcctcaagtgcatcaattCgctgcagaaggagccccatg	10	13	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:32754255C>T	uc003amj.2	+	1	402	c.197C>T	c.(196-198)TCG>TTG	p.S66L	RFPL3_uc010gwn.2_Missense_Mutation_p.S37L	NM_001098535	NP_001092005	O75679	RFPL3_HUMAN	ret finger protein-like 3 isoform 1	66	RING-type.						zinc ion binding			ovary(1)	1						TGCATCAATTCGCTGCAGAAG	0.537													T	32754255	C	T	32754255	3	4	104	1	0	0	0	0	1	0	0	0	13255	893	31	1	199	1	RFPL3	22	32754255	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	401991	32754255	18550311	6495	73109											
SYN3	8224	broad.mit.edu	37	chr22	32937665	32937665	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatggcgaccacgctggtgAtgtcctggaagtcaagctgg	14	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:32937665A>G	uc003amx.2	-	7	968	c.809T>C	c.(808-810)ATC>ACC	p.I270T	SYN3_uc003amy.2_Missense_Mutation_p.I270T|SYN3_uc003amz.2_Missense_Mutation_p.I269T	NM_003490	NP_003481	O14994	SYN3_HUMAN	synapsin III isoform IIIa	270	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			skin(1)	1						CACGCTGGTGATGTCCTGGAA	0.557													G	32937665	A	G	32937665	3	3	104	1	0	0	0	0	1	0	0	0	15439	333	12	3	961	3	SYN3	22	32937665	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	183410	32937665	18366901	6496	73110											
SYN3	8224	broad.mit.edu	37	chr22	33376685	33376685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttcccatggaaatacttcGacctgtaaaggggaagaaat	9	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:33376685G>A	uc003amx.2	-	2	473	c.314C>T	c.(313-315)TCG>TTG	p.S105L	SYN3_uc003amy.2_Missense_Mutation_p.S105L|SYN3_uc003amz.2_Missense_Mutation_p.S105L	NM_003490	NP_003481	O14994	SYN3_HUMAN	synapsin III isoform IIIa	105	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			skin(1)	1						GAAATACTTCGACCTGTAAAG	0.478													A	33376685	G	A	33376685	3	1	104	1	0	0	0	0	1	0	0	0	15439	1059	37	1	1476	1	SYN3	22	33376685	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	439020	33376685	17927881	6497	73111											
TOM1	10043	broad.mit.edu	37	chr22	35719555	35719555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccatctatgaggacctgCggaggaaaggcctggagttc	13	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:35719555C>T	uc003ann.2	+	5	558	c.433C>T	c.(433-435)CGG>TGG	p.R145W	TOM1_uc011ami.1_Missense_Mutation_p.R112W|TOM1_uc011amj.1_5'UTR|TOM1_uc003ans.2_5'UTR|TOM1_uc011amk.1_Missense_Mutation_p.R107W|TOM1_uc003anp.2_Missense_Mutation_p.R145W|TOM1_uc011aml.1_Intron|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Missense_Mutation_p.R139W|TOM1_uc003anr.2_5'UTR	NM_005488	NP_005479	O60784	TOM1_HUMAN	target of myb1 isoform 1	145	VHS.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			ovary(1)	1						TGAGGACCTGCGGAGGAAAGG	0.612													T	35719555	C	T	35719555	3	4	104	1	0	0	0	0	1	0	0	0	16348	759	27	1	451	1	TOM1	22	35719555	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2342870	35719555	15585011	6498	73112											
MCM5	4174	broad.mit.edu	37	chr22	35808654	35808654	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaggccattgcctgcctgctCtttgggggctcccgaaagag	13	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:35808654C>A	uc003anu.3	+	8	1165	c.1071C>A	c.(1069-1071)CTC>CTA	p.L357L	MCM5_uc010gwr.2_Silent_p.L166L|MCM5_uc003anv.3_Silent_p.L314L|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_Silent_p.L141L	NM_006739	NP_006730	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	357	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)	1						CCTGCCTGCTCTTTGGGGGCT	0.562													A	35808654	C	A	35808654	2	1	104	1	0	0	0	0	0	0	0	1	9390	900	32	5		5	MCM5	22	35808654	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	89099	35808654	15495912	6499	73113											
MYH9	4627	broad.mit.edu	37	chr22	36745002	36745002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgtgcagcaccgaggcttCgttgaggcacgtgagctctg	15	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:36745002C>T	uc003apg.2	-	2	511	c.280G>A	c.(280-282)GAA>AAA	p.E94K	MYH9_uc003api.1_Missense_Mutation_p.E94K	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	94	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						ACCGAGGCTTCGTTGAGGCAC	0.577			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				T	36745002	C	T	36745002	3	4	104	1	0	0	0	0	1	0	0	0	10042	893	31	1	5762	1	MYH9	22	36745002	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	936348	36745002	14559564	6500	73114											
CACNG2	10369	broad.mit.edu	37	chr22	36983540	36983540	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattctgctgtgtcagcttcGtaatctgcatcctctgggaa	9	10	4	0	rs148787239	by1000genomes	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:36983540G>A	uc003aps.1	-	2	549	c.267C>T	c.(265-267)TAC>TAT	p.Y89Y		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	voltage-dependent calcium channel gamma-2	89					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity				0						TGTCAGCTTCGTAATCTGCAT	0.473													A	36983540	G	A	36983540	2	1	104	1	0	0	0	0	0	0	0	1	2557	1140	40	1		1	CACNG2	22	36983540	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	238538	36983540	14321026	6501	73115											
CSF2RB	1439	broad.mit.edu	37	chr22	37318260	37318260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccagggagatggtgctggCccaggggctgctctccatgg	17	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:37318260C>T	uc003aqa.3	+	2	228	c.11C>T	c.(10-12)GCC>GTC	p.A4V	CSF2RB_uc003aqc.3_Missense_Mutation_p.A4V	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	4					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	ATGGTGCTGGCCCAGGGGCTG	0.667													T	37318260	C	T	37318260	3	4	104	1	0	0	0	0	1	0	0	0	3935	739	26	2	13	2	CSF2RB	22	37318260	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	334720	37318260	13986306	6502	73116											
TMPRSS6	164656	broad.mit.edu	37	chr22	37499365	37499365	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttttctcttggagtcctcAcaggccttgaacatcccctc	7	15	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:37499365A>G	uc003aqs.1	-	2	234	c.120T>C	c.(118-120)TGT>TGC	p.C40C	TMPRSS6_uc003aqt.1_Silent_p.C31C|TMPRSS6_uc003aqu.2_Silent_p.C31C	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	40	Cytoplasmic (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)|skin(1)	6						TGGAGTCCTCACAGGCCTTGA	0.692													G	37499365	A	G	37499365	2	3	104	1	0	0	0	0	0	0	0	1	16248	157	6	3		3	TMPRSS6	22	37499365	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	181105	37499365	13805201	6503	73117											
IL2RB	3560	broad.mit.edu	37	chr22	37533707	37533707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgggaggcttgggagatttCccagcttatgttgcatctgt	14	7	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:37533707C>T	uc003aqv.1	-	6	588	c.457G>A	c.(457-459)GAA>AAA	p.E153K		NM_000878	NP_000869	P14784	IL2RB_HUMAN	interleukin 2 receptor beta precursor	153	Extracellular (Potential).|Fibronectin type-III.				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity				0					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TGGGAGATTTCCCAGCTTATG	0.572													T	37533707	C	T	37533707	3	4	104	1	0	0	0	0	1	0	0	0	7687	864	30	4	1218	4	IL2RB	22	37533707	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	34342	37533707	13770859	6504	73118											
ELFN2	114794	broad.mit.edu	37	chr22	37769204	37769204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaccttcttgcgcagggCgtgaccggcggccatgtaca	14	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:37769204C>T	uc003asq.3	-	3	3157	c.2371G>A	c.(2371-2373)GCC>ACC	p.A791T		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	791	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					TTGCGCAGGGCGTGACCGGCG	0.627													T	37769204	C	T	37769204	3	4	104	1	0	0	0	0	1	0	0	0	5058	768	27	1	95	1	ELFN2	22	37769204	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	235497	37769204	13535362	6505	73119											
ELFN2	114794	broad.mit.edu	37	chr22	37769767	37769767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctctccttgtagggaggcGaaaggaagctgggccgctcc	15	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:37769767G>A	uc003asq.3	-	3	2594	c.1808C>T	c.(1807-1809)TCG>TTG	p.S603L		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	603	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					GTAGGGAGGCGAAAGGAAGCT	0.706													A	37769767	G	A	37769767	3	1	104	1	0	0	0	0	1	0	0	0	5058	1059	37	1	658	1	ELFN2	22	37769767	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	563	37769767	13534799	6506	73120											
TRIOBP	11078	broad.mit.edu	37	chr22	38097437	38097437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacatacttacccagaaccGctgtcaaaactgcttccacc	4	16	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:38097437G>A	uc003atr.2	+	3	336	c.65G>A	c.(64-66)CGC>CAC	p.R22H	TRIOBP_uc003atu.2_5'UTR|TRIOBP_uc003atq.1_Missense_Mutation_p.R22H|TRIOBP_uc003ats.1_5'UTR	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	22					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					ACCCAGAACCGCTGTCAAAAC	0.567													A	38097437	G	A	38097437	3	1	104	1	0	0	0	0	1	0	0	0	16550	1087	38	1	67	1	TRIOBP	22	38097437	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	327670	38097437	13207129	6507	73121											
ANKRD54	129138	broad.mit.edu	37	chr22	38228656	38228656	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctcacctgctctttggtActggtcatctgcaggcgggt	12	12	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:38228656A>G	uc003auc.2	-	7	874	c.816T>C	c.(814-816)AGT>AGC	p.S272S	ANKRD54_uc003aud.2_Silent_p.S149S	NM_138797	NP_620152	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	272											0	Melanoma(58;0.045)					GCTCTTTGGTACTGGTCATCT	0.612													G	38228656	A	G	38228656	2	3	104	1	0	0	0	0	0	0	0	1	680	388	14	3		3	ANKRD54	22	38228656	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	131219	38228656	13075910	6508	73122											
CSNK1E	1454	broad.mit.edu	37	chr22	38696819	38696819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtgctggtgggtgcgggCgtcccggtacttcttggcca	16	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:38696819C>T	uc003avj.2	-	5	736	c.475G>A	c.(475-477)GCC>ACC	p.A159T	CSNK1E_uc003avk.2_Missense_Mutation_p.A159T|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.A159T|CSNK1E_uc003avo.2_Missense_Mutation_p.A159T|CSNK1E_uc003avp.1_Missense_Mutation_p.A159T|CSNK1E_uc003avq.1_Missense_Mutation_p.A159T	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	159	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)					TGGGTGCGGGCGTCCCGGTAC	0.622													T	38696819	C	T	38696819	3	4	104	1	0	0	0	0	1	0	0	0	3953	768	27	1	799	1	CSNK1E	22	38696819	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	468163	38696819	12607747	6509	73123											
DDX17	10521	broad.mit.edu	37	chr22	38882012	38882012	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtctgccccatgtaacctatCatattggtagctcccggagg	10	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:38882012C>A	uc003avy.3	-	13	2227	c.2124G>T	c.(2122-2124)ATG>ATT	p.M708I	DDX17_uc003avw.3_Missense_Mutation_p.M160I|DDX17_uc010gxp.2_Missense_Mutation_p.M158I|DDX17_uc003avx.3_Missense_Mutation_p.M706I	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	DEAD box polypeptide 17 isoform 3	627					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			skin(3)|upper_aerodigestive_tract(1)	4	Melanoma(58;0.0286)					TGTAACCTATCATATTGGTAG	0.453													A	38882012	C	A	38882012	3	1	104	1	0	0	0	0	1	0	0	0	4344	826	29	5	75	5	DDX17	22	38882012	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	185193	38882012	12422554	6510	73124											
SMCR7L	54471	broad.mit.edu	37	chr22	39908025	39908025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacagactcctccaccttcGacacaggtgagaagggctgc	10	15	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:39908025G>A	uc003axx.2	+	4	814	c.316G>A	c.(316-318)GAC>AAC	p.D106N	SMCR7L_uc003axw.2_Missense_Mutation_p.D106N|SMCR7L_uc010gxz.1_5'UTR|SMCR7L_uc003axy.2_5'UTR	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	106						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)					CTCCACCTTCGACACAGGTGA	0.473													A	39908025	G	A	39908025	3	1	104	1	0	0	0	0	1	0	0	0	14791	1058	37	1	322	1	SMCR7L	22	39908025	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1026013	39908025	11396541	6511	73125											
CACNA1I	8911	broad.mit.edu	37	chr22	40055521	40055521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccgacaggaagaacttcgActccctgctgtgggccatcg	12	14	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:40055521A>G	uc003ayc.2	+	13	2414	c.2414A>G	c.(2413-2415)GAC>GGC	p.D805G	CACNA1I_uc003ayd.2_Missense_Mutation_p.D770G|CACNA1I_uc003aye.2_Missense_Mutation_p.D720G|CACNA1I_uc003ayf.2_Missense_Mutation_p.D685G	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	805	Extracellular (Potential).|II.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	AAGAACTTCGACTCCCTGCTG	0.592													G	40055521	A	G	40055521	3	3	104	1	0	0	0	0	1	0	0	0	2546	275	10	3	2464	3	CACNA1I	22	40055521	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	147496	40055521	11249045	6512	73126											
GRAP2	9402	broad.mit.edu	37	chr22	40365499	40365499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaatgcggccctcatgcatCggagacacacagacccagtg	11	13	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:40365499C>T	uc003ayh.1	+	7	1038	c.775C>T	c.(775-777)CGG>TGG	p.R259W	GRAP2_uc003ayi.2_RNA|GRAP2_uc011aom.1_Missense_Mutation_p.R233W|GRAP2_uc011aon.1_Missense_Mutation_p.R193W|GRAP2_uc010gya.1_Missense_Mutation_p.R259W|GRAP2_uc011aoo.1_Missense_Mutation_p.R187W|GRAP2_uc011aop.1_Missense_Mutation_p.R219W|GRAP2_uc011aoq.1_Missense_Mutation_p.R146W|GRAP2_uc003ayj.1_Missense_Mutation_p.R259W	NM_004810	NP_004801	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	259					cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						CCTCATGCATCGGAGACACAC	0.567													T	40365499	C	T	40365499	3	4	104	1	0	0	0	0	1	0	0	0	6754	875	31	1	797	1	GRAP2	22	40365499	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	309978	40365499	10939067	6513	73127											
TNRC6B	23112	broad.mit.edu	37	chr22	40661898	40661898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaccaaggcaatgcccaggCtccctgttggggaagatctt	11	11	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:40661898C>T	uc011aor.1	+	5	1875	c.1664C>T	c.(1663-1665)GCT>GTT	p.A555V	TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Missense_Mutation_p.A555V|TNRC6B_uc003ayo.2_Missense_Mutation_p.A359V	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	555					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						AATGCCCAGGCTCCCTGTTGG	0.507													T	40661898	C	T	40661898	3	4	104	1	0	0	0	0	1	0	0	0	16338	797	28	2	1803	2	TNRC6B	22	40661898	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	296399	40661898	10642668	6514	73128											
TNRC6B	23112	broad.mit.edu	37	chr22	40662421	40662421	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgagaatcccagcaaggaTcaggggtggggaggtggacg	18	6	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:40662421T>G	uc011aor.1	+	5	2398	c.2187T>G	c.(2185-2187)GAT>GAG	p.D729E	TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Missense_Mutation_p.D729E|TNRC6B_uc003ayo.2_Missense_Mutation_p.D533E	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	729					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						CCAGCAAGGATCAGGGGTGGG	0.507													G	40662421	T	G	40662421	3	3	104	1	0	0	0	0	1	0	0	0	16338	1432	50	5	2326	5	TNRC6B	22	40662421	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	523	40662421	10642145	6515	73129											
SGSM3	27352	broad.mit.edu	37	chr22	40802123	40802123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggttcctcacggccttcGccagcgtggtggacatcaag	12	13	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:40802123G>A	uc003ayu.1	+	9	1065	c.856G>A	c.(856-858)GCC>ACC	p.A286T	SGSM3_uc010gyc.1_Missense_Mutation_p.A286T|SGSM3_uc011aos.1_Missense_Mutation_p.A219T|SGSM3_uc011aot.1_Missense_Mutation_p.A223T|SGSM3_uc010gyd.1_Missense_Mutation_p.A286T	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	286	Rab-GAP TBC.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2						CACGGCCTTCGCCAGCGTGGT	0.617													A	40802123	G	A	40802123	3	1	104	1	0	0	0	0	1	0	0	0	14224	1087	38	1	886	1	SGSM3	22	40802123	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	139702	40802123	10502443	6516	73130											
SGSM3	27352	broad.mit.edu	37	chr22	40805350	40805350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcctgcgcagcccgggCtgggtccagatcaagtgtga	13	13	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:40805350C>T	uc003ayu.1	+	20	2294	c.2085C>T	c.(2083-2085)GGC>GGT	p.G695G	SGSM3_uc011aot.1_Silent_p.G606G|SGSM3_uc010gyd.1_Silent_p.G766G	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	695	RUN.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2						GCAGCCCGGGCTGGGTCCAGA	0.647													T	40805350	C	T	40805350	2	4	104	1	0	0	0	0	0	0	0	1	14224	784	28	2		2	SGSM3	22	40805350	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3227	40805350	10499216	6517	73131											
MKL1	57591	broad.mit.edu	37	chr22	40814412	40814412	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactggacaggccagggctgTctgcattcttattggtcacg	12	11	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:40814412T>C	uc003ayv.1	-	9	2237	c.2030A>G	c.(2029-2031)GAC>GGC	p.D677G	MKL1_uc003ayw.1_Missense_Mutation_p.D677G|MKL1_uc010gye.1_Missense_Mutation_p.D677G|MKL1_uc010gyf.1_Missense_Mutation_p.D627G	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	677	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GCCAGGGCTGTCTGCATTCTT	0.647			T	RBM15	acute megakaryocytic leukemia								C	40814412	T	C	40814412	3	2	104	1	0	0	0	0	1	0	0	0	9601	1667	58	3	781	3	MKL1	22	40814412	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	9062	40814412	10490154	6518	73132											
MKL1	57591	broad.mit.edu	37	chr22	40819672	40819672	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctctggaatcccggcccatCggaagttgagacacaacctg	10	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:40819672C>T	uc003ayv.1	-	6	702	c.495G>A	c.(493-495)CCG>CCA	p.P165P	MKL1_uc003ayw.1_Silent_p.P165P|MKL1_uc010gye.1_Silent_p.P165P|MKL1_uc010gyf.1_Intron	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	165	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CCCGGCCCATCGGAAGTTGAG	0.597			T	RBM15	acute megakaryocytic leukemia								T	40819672	C	T	40819672	2	4	104	1	0	0	0	0	0	0	0	1	9601	871	31	1		1	MKL1	22	40819672	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5260	40819672	10484894	6519	73133											
EP300	2033	broad.mit.edu	37	chr22	41574128	41574128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacatgaatccaatgcaggCgggcgttcagagggctggcc	15	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:41574128C>T	uc003azl.3	+	31	6808	c.6413C>T	c.(6412-6414)GCG>GTG	p.A2138V		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	2138	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CCAATGCAGGCGGGCGTTCAG	0.632			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				T	41574128	C	T	41574128	3	4	104	1	0	0	0	0	1	0	0	0	5148	768	27	1	6535	1	EP300	22	41574128	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	754456	41574128	9730438	6520	73134											
RANGAP1	5905	broad.mit.edu	37	chr22	41660674	41660674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccacacccaccttgccGccgccaatgcccatgccaca	7	21	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:41660674G>A	uc003azs.2	-	4	1944	c.474C>T	c.(472-474)GGC>GGT	p.G158G	RANGAP1_uc003azt.2_Silent_p.G158G|RANGAP1_uc003azu.2_Silent_p.G158G|RANGAP1_uc011aoz.1_Silent_p.G148G	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	158					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						CCACCTTGCCGCCGCCAATGC	0.637													A	41660674	G	A	41660674	2	1	104	1	0	0	0	0	0	0	0	1	13033	1074	38	1		1	RANGAP1	22	41660674	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	86546	41660674	9643892	6521	73135											
MEI1	150365	broad.mit.edu	37	chr22	42095614	42095614	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagaggcggcgcttctattCgagagggcccattaccggca	14	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:42095614C>T	uc003baz.1	+	1	97	c.72C>T	c.(70-72)TTC>TTT	p.F24F	MEI1_uc003bay.3_Silent_p.F24F|MEI1_uc011apd.1_RNA	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	24							binding			central_nervous_system(1)|skin(1)	2						CGCTTCTATTCGAGAGGGCCC	0.726													T	42095614	C	T	42095614	2	4	104	1	0	0	0	0	0	0	0	1	9465	883	31	1		1	MEI1	22	42095614	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	434940	42095614	9208952	6522	73136											
SEPT3	55964	broad.mit.edu	37	chr22	42377818	42377818	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaccatgaagaccggtttCgacttcaacatcatggtcgt	9	10	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:42377818C>T	uc003bbr.3	+	2	318	c.180C>T	c.(178-180)TTC>TTT	p.F60F	WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Silent_p.F60F|SEPT3_uc010gyr.2_Intron|SEPT3_uc011apj.1_Intron|SEPT3_uc010gys.2_5'UTR	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN	septin 3 isoform A	60					cell cycle|cytokinesis	cell junction|septin complex	GTP binding				0						AGACCGGTTTCGACTTCAACA	0.567													T	42377818	C	T	42377818	2	4	104	1	0	0	0	0	0	0	0	1	14065	883	31	1		1	SEPT3	22	42377818	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	282204	42377818	8926748	6523	73137											
TCF20	6942	broad.mit.edu	37	chr22	42609814	42609814	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaggagccttcagaatTtgtgcagctatctgctttct	10	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:42609814T>G	uc003bcj.1	-	1	1632	c.1498A>C	c.(1498-1500)AAT>CAT	p.N500H	TCF20_uc003bck.1_Missense_Mutation_p.N500H|TCF20_uc003bnt.2_Missense_Mutation_p.N500H	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						CCTTCAGAATTTGTGCAGCTA	0.502													G	42609814	T	G	42609814	3	3	104	1	0	0	0	0	1	0	0	0	15687	1841	64	5	4422	5	TCF20	22	42609814	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	231996	42609814	8694752	6524	73138											
PACSIN2	11252	broad.mit.edu	37	chr22	43289591	43289591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggtggccatcgtcgatcCgcttcacagtccgcttgtag	13	13	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:43289591C>T	uc010gzg.2	-	3	311	c.89G>A	c.(88-90)CGG>CAG	p.R30Q	PACSIN2_uc003bdg.3_Missense_Mutation_p.R30Q|PACSIN2_uc003bde.3_Missense_Mutation_p.R30Q|PACSIN2_uc003bdf.3_Missense_Mutation_p.R30Q	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in	30	FCH.				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity				0		Glioma(61;0.222)				ATCGTCGATCCGCTTCACAGT	0.637													T	43289591	C	T	43289591	3	4	104	1	0	0	0	0	1	0	0	0	11375	652	23	1	1407	1	PACSIN2	22	43289591	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	679777	43289591	8014975	6525	73139											
SCUBE1	80274	broad.mit.edu	37	chr22	43616481	43616481	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctcttccatctttgtctcGatctcaaactctgctgtgat	6	13	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:43616481G>A	uc003bdt.1	-	14	1750	c.1662C>T	c.(1660-1662)ATC>ATT	p.I554I		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	554					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				TCTTTGTCTCGATCTCAAACT	0.607													A	43616481	G	A	43616481	2	1	104	1	0	0	0	0	0	0	0	1	13944	1048	37	1		1	SCUBE1	22	43616481	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	326890	43616481	7688085	6526	73140											
SCUBE1	80274	broad.mit.edu	37	chr22	43619155	43619155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagcagctctccacaccGcctgccttgctgcaggacag	11	15	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:43619155G>A	uc003bdt.1	-	11	1363	c.1275C>T	c.(1273-1275)GGC>GGT	p.G425G		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	425					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				TCTCCACACCGCCTGCCTTGC	0.627													A	43619155	G	A	43619155	2	1	104	1	0	0	0	0	0	0	0	1	13944	1074	38	1		1	SCUBE1	22	43619155	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2674	43619155	7685411	6527	73141											
EFCAB6	64800	broad.mit.edu	37	chr22	44067870	44067870	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactttatgaaatgtgcattCgttaaaaatggacagaagac	8	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:44067870C>T	uc003bdy.1	-	15	1838	c.1623G>A	c.(1621-1623)ACG>ACA	p.T541T	EFCAB6_uc003bdz.1_Silent_p.T389T|EFCAB6_uc010gzi.1_Silent_p.T389T|EFCAB6_uc010gzk.1_RNA	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				AATGTGCATTCGTTAAAAATG	0.348													T	44067870	C	T	44067870	2	4	104	1	0	0	0	0	0	0	0	1	4939	871	31	1		1	EFCAB6	22	44067870	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	448715	44067870	7236696	6528	73142											
SAMM50	25813	broad.mit.edu	37	chr22	44364687	44364687	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagtggatgttttgattgAcacatgtcaaggtacatatt	9	5	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:44364687A>G	uc003bej.2	+	4	508	c.311A>G	c.(310-312)GAC>GGC	p.D104G	SAMM50_uc011aqd.1_5'UTR	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	sorting and assembly machinery component 50	104					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			skin(1)	1		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GTTTTGATTGACACATGTCAA	0.393													G	44364687	A	G	44364687	3	3	104	1	0	0	0	0	1	0	0	0	13829	275	10	3	325	3	SAMM50	22	44364687	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	296817	44364687	6939879	6529	73143											
WNT7B	7477	broad.mit.edu	37	chr22	46327148	46327148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagccctgcttctcgcggtCgcagccgcagttgctcaggt	13	14	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:46327148C>T	uc003bgo.2	-	3	774	c.400G>A	c.(400-402)GAC>AAC	p.D134N	WNT7B_uc010haa.2_Missense_Mutation_p.D138N	NM_058238	NP_478679	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family,	134					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			lung(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTCGCGGTCGCAGCCGCAG	0.682													T	46327148	C	T	46327148	3	4	104	1	0	0	0	0	1	0	0	0	17392	884	31	1	657	1	WNT7B	22	46327148	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1962461	46327148	4977418	6530	73144											
PKDREJ	10343	broad.mit.edu	37	chr22	46653760	46653760	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatttggggtgacaatgaatTtctcttctgatgctgttttg	10	5	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:46653760T>G	uc003bhh.2	-	1	5460	c.5460A>C	c.(5458-5460)GAA>GAC	p.E1820D		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1820	Extracellular (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GACAATGAATTTCTCTTCTGA	0.398													G	46653760	T	G	46653760	3	3	104	1	0	0	0	0	1	0	0	0	11970	1838	64	5	1305	5	PKDREJ	22	46653760	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	326612	46653760	4650806	6531	73145											
PKDREJ	10343	broad.mit.edu	37	chr22	46653808	46653808	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcggcaggtagacacatTttttcactagattttgctct	7	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:46653808T>G	uc003bhh.2	-	1	5412	c.5412A>C	c.(5410-5412)AAA>AAC	p.K1804N		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1804	Extracellular (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTAGACACATTTTTTCACTAG	0.393													G	46653808	T	G	46653808	3	3	104	1	0	0	0	0	1	0	0	0	11970	1838	64	5	1353	5	PKDREJ	22	46653808	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	48	46653808	4650758	6532	73146											
PKDREJ	10343	broad.mit.edu	37	chr22	46656446	46656446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaatccagacacctccaccGaagtgttttcctgatcattt	6	12	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:46656446G>A	uc003bhh.2	-	1	2774	c.2774C>T	c.(2773-2775)TCG>TTG	p.S925L		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	925	Extracellular (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CACCTCCACCGAAGTGTTTTC	0.438													A	46656446	G	A	46656446	3	1	104	1	0	0	0	0	1	0	0	0	11970	1059	37	1	3991	1	PKDREJ	22	46656446	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2638	46656446	4648120	6533	73147											
CELSR1	9620	broad.mit.edu	37	chr22	46760630	46760630	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacgtggttggccacagcgTcccctgaggcacgagagcgg	16	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:46760630T>C	uc003bhw.1	-	33	8558	c.8558A>G	c.(8557-8559)GAC>GGC	p.D2853G		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2853	Cytoplasmic (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGCCACAGCGTCCCCTGAGGC	0.687													C	46760630	T	C	46760630	3	2	104	1	0	0	0	0	1	0	0	0	3221	1667	58	3	498	3	CELSR1	22	46760630	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	104184	46760630	4543936	6534	73148											
CELSR1	9620	broad.mit.edu	37	chr22	46794454	46794454	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cggaatccacggcgcacggaGaccttgtcttcagaggcgcc	13	14	2	2	rs144288536		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:46794454G>T	uc003bhw.1	-	11	5493	c.5493C>A	c.(5491-5493)GTC>GTA	p.V1831V	CELSR1_uc011arc.1_Silent_p.V152V	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1831	Extracellular (Potential).|Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGCGCACGGAGACCTTGTCTT	0.687													T	46794454	G	T	46794454	2	4	104	1	0	0	0	0	0	0	0	1	3221	929	33	5		5	CELSR1	22	46794454	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	33824	46794454	4510112	6535	73149											
GRAMD4	23151	broad.mit.edu	37	chr22	47022799	47022799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggacaccgaatgcagcgacGaaatccccctgaaggtaccg	11	14	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:47022799G>A	uc003bhx.2	+	1	142	c.103G>A	c.(103-105)GAA>AAA	p.E35K		NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	35					apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		ATGCAGCGACGAAATCCCCCT	0.602													A	47022799	G	A	47022799	3	1	104	1	0	0	0	0	1	0	0	0	6752	1059	37	1	105	1	GRAMD4	22	47022799	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	228345	47022799	4281767	6536	73150											
PLXNB2	23654	broad.mit.edu	37	chr22	50718432	50718432	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaggctggggtggaacccAccttgaggtactggtacagg	16	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:50718432A>G	uc003bkv.3	-	26	4348	c.4242_splice	c.e26+1	p.K1414_splice	PLXNB2_uc003bkt.1_Splice_Site_p.K206_splice|PLXNB2_uc003bku.1_Splice_Site_p.K399_splice	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor						regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTGGAACCCACCTTGAGGTA	0.617													G	50718432	A	G	50718432	5	3	104	1	0	0	0	0	0	0	1	0	12124	173	6	3	1320	3	PLXNB2	22	50718432	Splice_Site	SNP	A	TCGA-BR-8680-01A-11D-2394-08	3695633	50718432	586134	6537	73151											
SBF1	6305	broad.mit.edu	37	chr22	50900836	50900836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcagagttggccacaagcGccgctgctcagaagccacgt	11	14	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:50900836G>A	uc003blh.2	-	19	2389	c.2194C>T	c.(2194-2196)CGC>TGC	p.R732C	SBF1_uc011arx.1_Missense_Mutation_p.R396C|SBF1_uc003bli.2_Missense_Mutation_p.R733C	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	732					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGCCACAAGCGCCGCTGCTCA	0.642													A	50900836	G	A	50900836	3	1	104	1	0	0	0	0	1	0	0	0	13858	1087	38	1	3579	1	SBF1	22	50900836	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	182404	50900836	403730	6538	73152											
MIOX	55586	broad.mit.edu	37	chr22	50927709	50927709	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctcgacagggtcctcatgTcctggggccatgatggtgag	16	10	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chr22:50927709T>C	uc003bll.1	+	7	685	c.571T>C	c.(571-573)TCC>CCC	p.S191P	MIOX_uc003blm.1_Missense_Mutation_p.S191P|MIOX_uc003bln.1_Silent_p.C201C	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	191					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity				0		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTCCTCATGTCCTGGGGCCA	0.507													C	50927709	T	C	50927709	3	2	104	1	0	0	0	0	1	0	0	0	9590	1667	58	3	597	3	MIOX	22	50927709	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	26873	50927709	376857	6539	73153											
SHOX	6473	broad.mit.edu	37	chrX	591664	591664	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacggcttttgtatccaagtCttttgaccagaaaagcaagg	9	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:591664C>A	uc004cph.1	+	2	723	c.32C>A	c.(31-33)TCT>TAT	p.S11Y	SHOX_uc004cpi.2_Missense_Mutation_p.S11Y	NM_000451	NP_000442	O15266	SHOX_HUMAN	short stature homeobox isoform SHOXa	11					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTATCCAAGTCTTTTGACCAG	0.637													A	591664	C	A	591664	3	1	104	1	0	0	0	0	1	0	0	0	14288	913	32	5	34	5	SHOX	23	591664	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08		591664	154678896	6540	73154											
SHOX	6473	broad.mit.edu	37	chrX	601807	601807	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcaacatgggagccttacgGatgcctttccaacaggtagc	11	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:601807G>A	uc004cph.1	+	5	1309	c.618G>A	c.(616-618)CGG>CGA	p.R206R	SHOX_uc004cpi.2_Silent_p.R206R	NM_000451	NP_000442	O15266	SHOX_HUMAN	short stature homeobox isoform SHOXa	206					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGCCTTACGGATGCCTTTCC	0.567													A	601807	G	A	601807	2	1	104	1	0	0	0	0	0	0	0	1	14288	1161	41	4		4	SHOX	23	601807	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	10143	601807	154668753	6541	73155											
ASMT	438	broad.mit.edu	37	chrX	1742126	1742126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggctgcaggtgtgagggCcagcgcccatgggacagagc	18	10	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:1742126C>T	uc004cqd.2	+	3	309	c.164C>T	c.(163-165)GCC>GTC	p.A55V	ASMT_uc010ncy.2_Missense_Mutation_p.A55V|ASMT_uc004cqe.2_Missense_Mutation_p.A55V	NM_004043	NP_004034	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	55					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			skin(1)	1		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTGTGAGGGCCAGCGCCCAT	0.642													T	1742126	C	T	1742126	3	4	104	1	0	0	0	0	1	0	0	0	1045	739	26	2	170	2	ASMT	23	1742126	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1140319	1742126	153528434	6542	73156											
DHRSX	207063	broad.mit.edu	37	chrX	2139159	2139159	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtttctggttgtaggTgacgtggagggacttggtct	16	6	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:2139159T>C	uc004cqf.3	-	7	965	c.916A>G	c.(916-918)ACC>GCC	p.T306A		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	306							binding|oxidoreductase activity				0		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGGTTGTAGGTGACGTGGAGG	0.527													C	2139159	T	C	2139159	3	2	104	1	0	0	0	0	1	0	0	0	4499	1696	59	3	80	3	DHRSX	23	2139159	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	397033	2139159	153131401	6543	73157											
DHRSX	207063	broad.mit.edu	37	chrX	2326792	2326792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtatctctcggtacctttgtCgttcaaggtttcttctttta	7	9	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:2326792C>T	uc004cqf.3	-	3	329	c.280G>A	c.(280-282)GAC>AAC	p.D94N		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	94							binding|oxidoreductase activity				0		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTACCTTTGTCGTTCAAGGTT	0.388													T	2326792	C	T	2326792	3	4	104	1	0	0	0	0	1	0	0	0	4499	884	31	1	732	1	DHRSX	23	2326792	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	187633	2326792	152943768	6544	73158											
NLGN4X	57502	broad.mit.edu	37	chrX	6069042	6069042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgaggtactcaccatcttCcgtgggcacgtagatgttta	11	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:6069042C>T	uc010ndh.2	-	2	967	c.466G>A	c.(466-468)GAA>AAA	p.E156K	NLGN4X_uc004crp.2_Missense_Mutation_p.E156K|NLGN4X_uc004crq.2_Missense_Mutation_p.E156K|NLGN4X_uc010ndi.2_Missense_Mutation_p.E156K|NLGN4X_uc004crr.2_Missense_Mutation_p.E156K|NLGN4X_uc010ndj.2_Missense_Mutation_p.E156K	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	156	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						TCACCATCTTCCGTGGGCACG	0.423													T	6069042	C	T	6069042	3	4	104	1	0	0	0	0	1	0	0	0	10464	864	30	4	2004	4	NLGN4X	23	6069042	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3742250	6069042	149201518	6545	73159											
TBL1X	6907	broad.mit.edu	37	chrX	9679717	9679717	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctgcacccacacgctcacGaagcatcaggagcctgtcta	9	15	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:9679717G>A	uc010ndq.2	+	16	1874	c.1506G>A	c.(1504-1506)ACG>ACA	p.T502T	TBL1X_uc004csq.3_Silent_p.T451T|TBL1X_uc010ndr.2_Silent_p.T451T|TBL1X_uc004csr.2_Silent_p.T502T|TBL1X_uc004css.2_Silent_p.T453T	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN	transducin beta-like 1X isoform a	502					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Hepatocellular(5;0.000888)				ACACGCTCACGAAGCATCAGG	0.517													A	9679717	G	A	9679717	2	1	104	1	0	0	0	0	0	0	0	1	15636	1045	37	1		1	TBL1X	23	9679717	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3610675	9679717	145590843	6546	73160											
SHROOM2	357	broad.mit.edu	37	chrX	9863383	9863383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctggcagggtccccggCcctgtgtgcagggagacctg	18	13	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:9863383C>T	uc004csu.1	+	4	1525	c.1435C>T	c.(1435-1437)CCC>TCC	p.P479S		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	479					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				GGGTCCCCGGCCCTGTGTGCA	0.677													T	9863383	C	T	9863383	3	4	104	1	0	0	0	0	1	0	0	0	14294	739	26	2	1449	2	SHROOM2	23	9863383	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	183666	9863383	145407177	6547	73161											
FRMPD4	9758	broad.mit.edu	37	chrX	12701697	12701697	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggtcatcatcaacggCcaagtgtcggtgagtttaca	13	8	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:12701697C>T	uc004cuz.1	+	6	1070	c.564C>T	c.(562-564)GGC>GGT	p.G188G	FRMPD4_uc011mij.1_Silent_p.G180G	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	188					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						TCATCAACGGCCAAGTGTCGG	0.448													T	12701697	C	T	12701697	2	4	104	1	0	0	0	0	0	0	0	1	6059	726	26	2		2	FRMPD4	23	12701697	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2838314	12701697	142568863	6548	73162											
TLR7	51284	broad.mit.edu	37	chrX	12905084	12905084	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaagaggcttctttcatgtCtgttaatgaaagctgctaca	8	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:12905084C>A	uc004cvc.2	+	3	1596	c.1457C>A	c.(1456-1458)TCT>TAT	p.S486Y		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	486	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)	TCTTTCATGTCTGTTAATGAA	0.358													A	12905084	C	A	12905084	3	1	104	1	0	0	0	0	1	0	0	0	15953	913	32	5	1463	5	TLR7	23	12905084	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	203387	12905084	142365476	6549	73163											
TLR8	51311	broad.mit.edu	37	chrX	12937551	12937551	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaacctaagggagttacTgcttgaagacaaccagttac	8	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:12937551T>C	uc004cve.2	+	2	460	c.392T>C	c.(391-393)CTG>CCG	p.L131P	TLR8_uc004cvd.2_Missense_Mutation_p.L149P	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	131	LRR 1.|Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						AGGGAGTTACTGCTTGAAGAC	0.408													C	12937551	T	C	12937551	3	2	104	1	0	0	0	0	1	0	0	0	15954	1580	55	3	398	3	TLR8	23	12937551	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	32467	12937551	142333009	6550	73164											
TLR8	51311	broad.mit.edu	37	chrX	12940036	12940036	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctggaactttaaaacagcTttttacttggctttgcagag	9	7	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:12940036T>G	uc004cve.2	+	2	2945	c.2877T>G	c.(2875-2877)GCT>GCG	p.A959A	TLR8_uc004cvd.2_Silent_p.A977A	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	959	Cytoplasmic (Potential).|TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						TTAAAACAGCTTTTTACTTGG	0.388													G	12940036	T	G	12940036	2	3	104	1	0	0	0	0	0	0	0	1	15954	1596	56	5		5	TLR8	23	12940036	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2485	12940036	142330524	6551	73165											
ASB9	140462	broad.mit.edu	37	chrX	15267048	15267048	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgacctttcccttggttcAcgtccgctcctaaacagtca	6	16	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:15267048A>G	uc004cwl.2	-	6	825	c.578T>C	c.(577-579)GTG>GCG	p.V193A	ASB9_uc004cwk.2_Missense_Mutation_p.V193A|ASB9_uc004cwm.2_Missense_Mutation_p.V183A|ASB9_uc010ner.2_Missense_Mutation_p.V193A|ASB9_uc004cwn.2_Missense_Mutation_p.V164A	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box-containing 9 isoform	193	ANK 5.				intracellular signal transduction						0	Hepatocellular(33;0.183)					CCCTTGGTTCACGTCCGCTCC	0.537													G	15267048	A	G	15267048	3	3	104	1	0	0	0	0	1	0	0	0	1030	159	6	3	343	3	ASB9	23	15267048	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2327012	15267048	140003512	6552	73166											
ASB11	140456	broad.mit.edu	37	chrX	15333600	15333600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagccgcttcttttctatttCctttgacgatatagaaatgg	7	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:15333600C>T	uc004cwp.1	-	1	128	c.128G>A	c.(127-129)GGA>GAA	p.G43E	ASB11_uc004cwo.1_5'Flank|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Missense_Mutation_p.G43E	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box-containing protein	43					intracellular signal transduction					breast(2)|skin(1)	3	Hepatocellular(33;0.183)					TTTTCTATTTCCTTTGACGAT	0.299													T	15333600	C	T	15333600	3	4	104	1	0	0	0	0	1	0	0	0	1015	855	30	4	993	4	ASB11	23	15333600	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	66552	15333600	139936960	6553	73167											
PIR	8544	broad.mit.edu	37	chrX	15474167	15474167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcagaatgccccggcccGcagtcatccactgcaaacac	9	17	1	1	rs149497039		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:15474167G>A	uc004cwu.2	-	5	522	c.284C>T	c.(283-285)GCG>GTG	p.A95V	PIR_uc004cwv.2_Missense_Mutation_p.A95V	NM_003662	NP_003653	O00625	PIR_HUMAN	pirin	95					transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity			ovary(1)	1	Hepatocellular(33;0.183)					GCCCCGGCCCGCAGTCATCCA	0.493													A	15474167	G	A	15474167	3	1	104	1	0	0	0	0	1	0	0	0	11944	1087	38	1	612	1	PIR	23	15474167	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	140567	15474167	139796393	6554	73168											
GRPR	2925	broad.mit.edu	37	chrX	16141926	16141926	+	Translation_Start_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgacagagagttttgaatAccatagttagtatatatgta	9	3	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:16141926A>G	uc004cxj.2	+	1	503	c.-150A>G	c.(-152--148)ATACC>ATGCC			NM_005314	NP_005305	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor						cell proliferation	integral to plasma membrane	bombesin receptor activity			ovary(3)|lung(1)	4	Hepatocellular(33;0.183)					AGTTTTGAATACCATAGTTAG	0.353											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	16141926	A	G	16141926	1	3	104	1	0	0	0	0	0	0	0	0	6808	406	14	3		3	GRPR	23	16141926	Translation_Start_Site	SNP	A	TCGA-BR-8680-01A-11D-2394-08	667759	16141926	139128634	6555	73169											
GRPR	2925	broad.mit.edu	37	chrX	16170750	16170750	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcaatggaaacatctgTcacgagcggtatgtctagat	9	9	5	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:16170750T>C	uc004cxj.2	+	3	1790	c.1137T>C	c.(1135-1137)TGT>TGC	p.C379C		NM_005314	NP_005305	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	379	Cytoplasmic (Potential).				cell proliferation	integral to plasma membrane	bombesin receptor activity			ovary(3)|lung(1)	4	Hepatocellular(33;0.183)					GAAACATCTGTCACGAGCGGT	0.517													C	16170750	T	C	16170750	2	2	104	1	0	0	0	0	0	0	0	1	6808	1673	58	3		3	GRPR	23	16170750	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	28824	16170750	139099810	6556	73170											
NHS	4810	broad.mit.edu	37	chrX	17745600	17745600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtaggagaaacactgaggtCgaatcctccaccgtcccttg	10	12	0	2	rs145005596		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:17745600C>T	uc004cxx.2	+	6	3649	c.3311C>T	c.(3310-3312)TCG>TTG	p.S1104L	NHS_uc011mix.1_Missense_Mutation_p.S1125L|NHS_uc004cxy.2_Missense_Mutation_p.S948L|NHS_uc004cxz.2_Missense_Mutation_p.S927L|NHS_uc004cya.2_Missense_Mutation_p.S827L	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	1104						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					ACACTGAGGTCGAATCCTCCA	0.413													T	17745600	C	T	17745600	3	4	104	1	0	0	0	0	1	0	0	0	10411	893	31	1	3438	1	NHS	23	17745600	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1574850	17745600	137524960	6557	73171											
PHKA2	5256	broad.mit.edu	37	chrX	18938281	18938281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtcagatatgtgtagaacGatgtggtgagaaattccgaa	12	4	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:18938281G>A	uc004cyv.3	-	18	2262	c.1832C>T	c.(1831-1833)TCG>TTG	p.S611L	PHKA2_uc004cyu.3_5'UTR|PHKA2_uc010nfg.1_RNA	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	611					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					TGTGTAGAACGATGTGGTGAG	0.433													A	18938281	G	A	18938281	3	1	104	1	0	0	0	0	1	0	0	0	11844	1059	37	1	1939	1	PHKA2	23	18938281	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1192681	18938281	136332279	6558	73172											
MAP3K15	389840	broad.mit.edu	37	chrX	19410570	19410570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatcggcccccatttggatCgcagaagagcagaaaggctt	11	11	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:19410570C>T	uc004czk.1	-	18	2278	c.641G>A	c.(640-642)CGA>CAA	p.R214Q	MAP3K15_uc004czj.1_Missense_Mutation_p.R174Q	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	739	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)					CCATTTGGATCGCAGAAGAGC	0.433													T	19410570	C	T	19410570	3	4	104	1	0	0	0	0	1	0	0	0	9249	884	31	1	1777	1	MAP3K15	23	19410570	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	472289	19410570	135859990	6559	73173											
SH3KBP1	30011	broad.mit.edu	37	chrX	19626054	19626054	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcaaagtgaaggagacttAcattcccttccttttcaaag	6	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:19626054A>C	uc004czm.2	-	9	1321	c.1005_splice	c.e9+1	p.N335_splice	SH3KBP1_uc011mje.1_Splice_Site_p.N74_splice|SH3KBP1_uc011mjf.1_Splice_Site_p.N97_splice|SH3KBP1_uc004czl.2_Splice_Site_p.N298_splice	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a						apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0						AAGGAGACTTACATTCCCTTC	0.413													C	19626054	A	C	19626054	5	2	104	1	0	0	0	0	0	0	1	0	14255	405	14	5	1030	5	SH3KBP1	23	19626054	Splice_Site	SNP	A	TCGA-BR-8680-01A-11D-2394-08	215484	19626054	135644506	6560	73174											
RPS6KA3	6197	broad.mit.edu	37	chrX	20195149	20195149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatttcgcttgaaaagcattCgtaaaagactctgcgcttca	8	9	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:20195149C>T	uc004czu.2	-	11	899	c.899G>A	c.(898-900)CGA>CAA	p.R300Q	RPS6KA3_uc011mjk.1_Missense_Mutation_p.R271Q|RPS6KA3_uc004czv.2_Missense_Mutation_p.R288Q|RPS6KA3_uc011mjl.1_Missense_Mutation_p.R272Q|RPS6KA3_uc011mjm.1_Missense_Mutation_p.R272Q	NM_004586	NP_004577	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	300	Protein kinase 1.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	p.R300R(1)		central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1)	8						GAAAAGCATTCGTAAAAGACT	0.338													T	20195149	C	T	20195149	3	4	104	1	0	0	0	0	1	0	0	0	13652	884	31	1	1371	1	RPS6KA3	23	20195149	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	569095	20195149	135075411	6561	73175											
DDX53	168400	broad.mit.edu	37	chrX	23019630	23019630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgctgatgacttgtcaagcGacttcaatatccaaggcata	8	9	2	2	rs149709546	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:23019630G>A	uc004daj.2	+	1	1544	c.1456G>A	c.(1456-1458)GAC>AAC	p.D486N		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	486	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			large_intestine(1)|ovary(1)|kidney(1)	3						CTTGTCAAGCGACTTCAATAT	0.413													A	23019630	G	A	23019630	3	1	104	1	0	0	0	0	1	0	0	0	4371	1058	37	1	1458	1	DDX53	23	23019630	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2824481	23019630	132250930	6562	73176											
PTCHD1	139411	broad.mit.edu	37	chrX	23397823	23397823	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggatgacatagtgcacgTcctggaagagctaaagaatg	13	7	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:23397823T>C	uc004dal.3	+	2	475	c.467T>C	c.(466-468)GTC>GCC	p.V156A	PTCHD1_uc010nfu.1_Missense_Mutation_p.V156A	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	156					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						ATAGTGCACGTCCTGGAAGAG	0.458													C	23397823	T	C	23397823	3	2	104	1	0	0	0	0	1	0	0	0	12732	1667	58	3	473	3	PTCHD1	23	23397823	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	378193	23397823	131872737	6563	73177											
PTCHD1	139411	broad.mit.edu	37	chrX	23411641	23411641	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatctcttggaaaccctgaGgagactttctgtcacctcca	8	12	3	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:23411641G>T	uc004dal.3	+	3	2014	c.2006G>T	c.(2005-2007)AGG>ATG	p.R669M		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	669					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						GAAACCCTGAGGAGACTTTCT	0.478													T	23411641	G	T	23411641	3	4	104	1	0	0	0	0	1	0	0	0	12732	1000	35	5	2016	5	PTCHD1	23	23411641	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	13818	23411641	131858919	6564	73178											
PRDX4	10549	broad.mit.edu	37	chrX	23689659	23689659	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttagtttccaagccagcGccctactgggaaggaacagc	10	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:23689659G>A	uc004dam.2	+	2	298	c.255G>A	c.(253-255)GCG>GCA	p.A85A		NM_006406	NP_006397	Q13162	PRDX4_HUMAN	peroxiredoxin 4	85	Thioredoxin.				cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity			upper_aerodigestive_tract(1)	1						CCAAGCCAGCGCCCTACTGGG	0.388													A	23689659	G	A	23689659	2	1	104	1	0	0	0	0	0	0	0	1	12467	1074	38	1		1	PRDX4	23	23689659	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	278018	23689659	131580901	6565	73179											
POLA1	5422	broad.mit.edu	37	chrX	24751894	24751894	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctaaaccaaaggactgTatttttccatatgctttcaa	6	8	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:24751894T>C	uc004dbl.2	+	17	1799	c.1776T>C	c.(1774-1776)TGT>TGC	p.C592C	POLA1_uc004dbn.2_Silent_p.C456C	NM_016937	NP_058633	P09884	DPOLA_HUMAN	DNA-directed DNA polymerase alpha 1	592					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)	CAAAGGACTGTATTTTTCCAT	0.343													C	24751894	T	C	24751894	2	2	104	1	0	0	0	0	0	0	0	1	12187	1644	57	3		3	POLA1	23	24751894	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1062235	24751894	130518666	6566	73180											
POLA1	5422	broad.mit.edu	37	chrX	24751916	24751916	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttttccatatgctttcaaaGaagtcattgagaaaaaggta	7	5	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:24751916G>T	uc004dbl.2	+	17	1821	c.1798G>T	c.(1798-1800)GAA>TAA	p.E600*	POLA1_uc004dbn.2_Nonsense_Mutation_p.E464*	NM_016937	NP_058633	P09884	DPOLA_HUMAN	DNA-directed DNA polymerase alpha 1	600					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)	TGCTTTCAAAGAAGTCATTGA	0.353													T	24751916	G	T	24751916	4	4	104	1	0	0	0	0	0	1	0	0	12187	943	33	5	1864	5	POLA1	23	24751916	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	22	24751916	130518644	6567	73181											
MAGEB2	4113	broad.mit.edu	37	chrX	30237408	30237408	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagtctatgatggagaggaGcactcagtctttggggaacc	15	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:30237408G>T	uc004dbz.2	+	2	814	c.711G>T	c.(709-711)GAG>GAT	p.E237D		NM_002364	NP_002355	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	237	MAGE.						protein binding			ovary(1)	1						ATGGAGAGGAGCACTCAGTCT	0.498													T	30237408	G	T	30237408	3	4	104	1	0	0	0	0	1	0	0	0	9176	962	34	5	713	5	MAGEB2	23	30237408	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5485492	30237408	125033152	6568	73182											
DMD	1756	broad.mit.edu	37	chrX	31164479	31164479	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgctgtcggacctctgtagaGaggtagaaggagaggacacc	15	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:31164479G>T	uc004dda.1	-	76	11094	c.10850C>A	c.(10849-10851)TCT>TAT	p.S3617Y	DMD_uc004dcq.1_Missense_Mutation_p.S888Y|DMD_uc004dcr.1_Missense_Mutation_p.S1037Y|DMD_uc004dcs.1_Missense_Mutation_p.S1047Y|DMD_uc004dct.1_Missense_Mutation_p.S1157Y|DMD_uc004dcu.1_Missense_Mutation_p.S1157Y|DMD_uc004dcv.1_Missense_Mutation_p.S1144Y|DMD_uc004dcw.2_Missense_Mutation_p.S2273Y|DMD_uc004dcx.2_Missense_Mutation_p.S2276Y|DMD_uc004dcz.2_Missense_Mutation_p.S3494Y|DMD_uc004dcy.1_Missense_Mutation_p.S3613Y|DMD_uc004ddb.1_Missense_Mutation_p.S3609Y|DMD_uc004dcm.1_Missense_Mutation_p.S549Y|DMD_uc004dcn.1_Missense_Mutation_p.S536Y|DMD_uc004dco.1_Missense_Mutation_p.S549Y|DMD_uc004dcp.1_Missense_Mutation_p.S536Y|DMD_uc011mkb.1_Missense_Mutation_p.S439Y	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3617					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCTCTGTAGAGAGGTAGAAGG	0.473													T	31164479	G	T	31164479	3	4	104	1	0	0	0	0	1	0	0	0	4580	942	33	5	309	5	DMD	23	31164479	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	927071	31164479	124106081	6569	73183											
DMD	1756	broad.mit.edu	37	chrX	32235105	32235105	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctgagaaactgttcagcTtctgttagccactgattaaa	7	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:32235105T>G	uc004dda.1	-	44	6610	c.6366A>C	c.(6364-6366)GAA>GAC	p.E2122D	DMD_uc004dcw.2_Missense_Mutation_p.E778D|DMD_uc004dcx.2_Missense_Mutation_p.E781D|DMD_uc004dcz.2_Missense_Mutation_p.E1999D|DMD_uc004dcy.1_Missense_Mutation_p.E2118D|DMD_uc004ddb.1_Missense_Mutation_p.E2114D|DMD_uc010ngo.1_Missense_Mutation_p.E31D|DMD_uc010ngn.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2122	Spectrin 15.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACTGTTCAGCTTCTGTTAGCC	0.348													G	32235105	T	G	32235105	3	3	104	1	0	0	0	0	1	0	0	0	4580	1606	56	5	4983	5	DMD	23	32235105	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1070626	32235105	123035455	6570	73184											
DMD	1756	broad.mit.edu	37	chrX	32328264	32328264	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acagaggtcaggagcattgaGaagttgttccacttctaata	10	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:32328264G>T	uc004dda.1	-	42	6296	c.6052C>A	c.(6052-6054)CTC>ATC	p.L2018I	DMD_uc004dcw.2_Missense_Mutation_p.L674I|DMD_uc004dcx.2_Missense_Mutation_p.L677I|DMD_uc004dcz.2_Missense_Mutation_p.L1895I|DMD_uc004dcy.1_Missense_Mutation_p.L2014I|DMD_uc004ddb.1_Missense_Mutation_p.L2010I|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2018	Spectrin 14.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGAGCATTGAGAAGTTGTTCC	0.393													T	32328264	G	T	32328264	3	4	104	1	0	0	0	0	1	0	0	0	4580	942	33	5	5305	5	DMD	23	32328264	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	93159	32328264	122942296	6571	73185											
CXorf22	170063	broad.mit.edu	37	chrX	36007570	36007570	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaatgtgttgcacatgtaAttattttccttgaacatggt	7	5	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:36007570A>C	uc004ddj.2	+	16	2907	c.2848A>C	c.(2848-2850)ATT>CTT	p.I950L	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	950										large_intestine(1)|lung(1)|ovary(1)	3						TGCACATGTAATTATTTTCCT	0.363													C	36007570	A	C	36007570	3	2	104	1	0	0	0	0	1	0	0	0	4102	101	4	5	2910	5	CXorf22	23	36007570	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	3679306	36007570	119262990	6572	73186											
XK	7504	broad.mit.edu	37	chrX	37545370	37545370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccttgcgcgctcgtgcaGctcacgcttctcttcgtaca	9	16	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:37545370G>A	uc004ddq.2	+	1	238	c.156G>A	c.(154-156)CAG>CAA	p.Q52Q		NM_021083	NP_066569	P51811	XK_HUMAN	membrane transport protein XK	52	Helical; (Potential).				amino acid transport	integral to membrane	protein binding|transporter activity				0		all_lung(315;0.175)				CGCTCGTGCAGCTCACGCTTC	0.667													A	37545370	G	A	37545370	2	1	104	1	0	0	0	0	0	0	0	1	17428	962	34	2		2	XK	23	37545370	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1537800	37545370	117725190	6573	73187											
CYBB	1536	broad.mit.edu	37	chrX	37651246	37651246	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgctgctcaacaagagttCgaagacaactggacaggaat	11	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:37651246C>T	uc004ddr.2	+	4	332	c.271C>T	c.(271-273)CGA>TGA	p.R91*	CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Nonsense_Mutation_p.R59*|CYBB_uc011mkg.1_5'UTR	NM_000397	NP_000388	P04839	CY24B_HUMAN	cytochrome b-245 beta polypeptide	91	Cytoplasmic (Potential).|Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						AACAAGAGTTCGAAGACAACT	0.348													T	37651246	C	T	37651246	4	4	104	1	0	0	0	0	0	1	0	0	4133	876	31	1	285	1	CYBB	23	37651246	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	105876	37651246	117619314	6574	73188											
CYBB	1536	broad.mit.edu	37	chrX	37665699	37665699	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtggtttgcagatctgctGcaactgctggagagccagat	14	8	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:37665699G>A	uc004ddr.2	+	11	1435	c.1374G>A	c.(1372-1374)CTG>CTA	p.L458L	CYBB_uc011mkf.1_Silent_p.L426L|CYBB_uc011mkg.1_Silent_p.L191L	NM_000397	NP_000388	P04839	CY24B_HUMAN	cytochrome b-245 beta polypeptide	458	Cytoplasmic (Potential).				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						CAGATCTGCTGCAACTGCTGG	0.502													A	37665699	G	A	37665699	2	1	104	1	0	0	0	0	0	0	0	1	4133	1306	46	2		2	CYBB	23	37665699	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	14453	37665699	117604861	6575	73189											
SYTL5	94122	broad.mit.edu	37	chrX	37984742	37984742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctttctgggaggagttcGtttgaattctggaagtggtg	14	5	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:37984742G>A	uc004ddu.2	+	17	2567	c.2033G>A	c.(2032-2034)CGT>CAT	p.R678H	SYTL5_uc004ddv.2_Missense_Mutation_p.R678H|SYTL5_uc004ddx.2_Missense_Mutation_p.R700H	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5 isoform 1	678	C2 2.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			skin(1)	1						GGAGGAGTTCGTTTGAATTCT	0.507													A	37984742	G	A	37984742	3	1	104	1	0	0	0	0	1	0	0	0	15483	1145	40	1	2161	1	SYTL5	23	37984742	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	319043	37984742	117285818	6576	73190											
RPGR	6103	broad.mit.edu	37	chrX	38158349	38158349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatttcttttgccacaccacGatgaggagcagcaaaaacta	7	10	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:38158349G>A	uc004ded.1	-	10	1273	c.1105C>T	c.(1105-1107)CGT>TGT	p.R369C	RPGR_uc004deb.2_Missense_Mutation_p.R369C|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA|RPGR_uc004dee.1_Missense_Mutation_p.R54C	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform C	369					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						GCCACACCACGATGAGGAGCA	0.403													A	38158349	G	A	38158349	3	1	104	1	0	0	0	0	1	0	0	0	13548	1058	37	1	2936	1	RPGR	23	38158349	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	173607	38158349	117112211	6577	73191											
USP9X	8239	broad.mit.edu	37	chrX	41000424	41000424	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caagggttccaggacaagaaGaaactgttaaaaacttagaa	9	6	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:41000424G>T	uc004dfb.2	+	8	1609	c.976G>T	c.(976-978)GAA>TAA	p.E326*	USP9X_uc004dfc.2_Nonsense_Mutation_p.E326*	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	326					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						AGGACAAGAAGAAACTGTTAA	0.284													T	41000424	G	T	41000424	4	4	104	1	0	0	0	0	0	1	0	0	17087	943	33	5	1002	5	USP9X	23	41000424	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2842075	41000424	114270136	6578	73192											
GPR82	27197	broad.mit.edu	37	chrX	41587118	41587118	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttctacaccaaagagataActgtcagcaattgaattatt	6	7	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:41587118A>C	uc004dfs.1	+	3	1079	c.839A>C	c.(838-840)AAC>ACC	p.N280T	CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR82_uc004dft.2_Missense_Mutation_p.N280T|GPR82_uc004dfu.1_RNA	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	280	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						CAAAGAGATAACTGTCAGCAA	0.323													C	41587118	A	C	41587118	3	2	104	1	0	0	0	0	1	0	0	0	6712	43	2	5	841	5	GPR82	23	41587118	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	586694	41587118	113683442	6579	73193											
RBM10	8241	broad.mit.edu	37	chrX	47041358	47041358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcaccccctagctgttcccGacgtctctacctaccagtac	5	19	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:47041358G>A	uc004dhf.2	+	16	2081	c.1702G>A	c.(1702-1704)GAC>AAC	p.D568N	RBM10_uc004dhg.2_Missense_Mutation_p.D490N|RBM10_uc004dhh.2_Missense_Mutation_p.D567N|RBM10_uc010nhq.2_Missense_Mutation_p.D491N|RBM10_uc004dhi.2_Missense_Mutation_p.D633N	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	568	Tyr-rich.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						AGCTGTTCCCGACGTCTCTAC	0.577													A	47041358	G	A	47041358	3	1	104	1	0	0	0	0	1	0	0	0	13111	1058	37	1	1760	1	RBM10	23	47041358	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	5454240	47041358	108229202	6580	73194											
RBM10	8241	broad.mit.edu	37	chrX	47044457	47044457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaccctcacccccagattGccaaggacatggaacgctgg	9	16	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:47044457G>A	uc004dhf.2	+	18	2333	c.1954G>A	c.(1954-1956)GCC>ACC	p.A652T	RBM10_uc004dhg.2_Missense_Mutation_p.A574T|RBM10_uc004dhh.2_Missense_Mutation_p.A651T|RBM10_uc010nhq.2_Missense_Mutation_p.A575T|RBM10_uc004dhi.2_Missense_Mutation_p.A717T	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	652					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						CCCCCAGATTGCCAAGGACAT	0.468													A	47044457	G	A	47044457	3	1	104	1	0	0	0	0	1	0	0	0	13111	1319	46	2	2020	2	RBM10	23	47044457	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3099	47044457	108226103	6581	73195											
UBA1	7317	broad.mit.edu	37	chrX	47065665	47065665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcatgtacatggaccgccGctgtgtctactaccggaagc	12	12	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:47065665G>A	uc004dhj.3	+	16	1911	c.1760G>A	c.(1759-1761)CGC>CAC	p.R587H	UBA1_uc004dhk.3_Missense_Mutation_p.R587H|UBA1_uc004dhm.2_5'Flank	NM_153280	NP_695012	P22314	UBA1_HUMAN	ubiquitin-activating enzyme E1	587	1-2.|2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			ovary(1)	1						ATGGACCGCCGCTGTGTCTAC	0.547													A	47065665	G	A	47065665	3	1	104	1	0	0	0	0	1	0	0	0	16824	1087	38	1	1818	1	UBA1	23	47065665	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	21208	47065665	108204895	6582	73196											
ZNF157	7712	broad.mit.edu	37	chrX	47272103	47272103	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctcattgctcatcagaaaActcacacaggggagaggccc	9	13	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:47272103A>G	uc004dhr.1	+	4	700	c.631A>G	c.(631-633)ACT>GCT	p.T211A		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	211	C2H2-type 2.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TCATCAGAAAACTCACACAGG	0.438													G	47272103	A	G	47272103	3	3	104	1	0	0	0	0	1	0	0	0	17734	43	2	3	645	3	ZNF157	23	47272103	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	206438	47272103	107998457	6583	73197											
ZNF41	7592	broad.mit.edu	37	chrX	47308810	47308810	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcctatgggttgatcaaatCtctcacagtggaagaaaatt	8	8	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:47308810C>A	uc004dhs.3	-	4	552	c.485G>T	c.(484-486)AGA>ATA	p.R162I	ZNF41_uc004dhu.3_Missense_Mutation_p.R154I|ZNF41_uc004dht.3_Missense_Mutation_p.R34I|ZNF41_uc004dhv.3_Missense_Mutation_p.R130I|ZNF41_uc004dhw.3_Missense_Mutation_p.R122I|ZNF41_uc004dhy.3_Missense_Mutation_p.R120I|ZNF41_uc004dhx.3_Missense_Mutation_p.R120I|ZNF41_uc011mlm.1_Missense_Mutation_p.R34I|ZNF41_uc004dhz.2_Intron|ZNF41_uc004dia.2_Intron	NM_153380	NP_700359	P51814	ZNF41_HUMAN	zinc finger protein 41	162						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3		all_lung(315;0.000129)				TTGATCAAATCTCTCACAGTG	0.383													A	47308810	C	A	47308810	3	1	104	1	0	0	0	0	1	0	0	0	17886	913	32	5	1984	5	ZNF41	23	47308810	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	36707	47308810	107961750	6584	73198											
SYN1	6853	broad.mit.edu	37	chrX	47464761	47464761	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctggcggatcagcacaAaatccggcttcagagaccta	11	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:47464761A>C	uc004die.2	-	4	674	c.545T>G	c.(544-546)TTT>TGT	p.F182C	SYN1_uc004did.2_Missense_Mutation_p.F182C	NM_006950	NP_008881	P17600	SYN1_HUMAN	synapsin I isoform Ia	182	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			ovary(1)	1						GATCAGCACAAAATCCGGCTT	0.522													C	47464761	A	C	47464761	3	2	104	1	0	0	0	0	1	0	0	0	15437	14	1	5	1612	5	SYN1	23	47464761	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	155951	47464761	107805799	6585	73199											
ELK1	2002	broad.mit.edu	37	chrX	47500810	47500810	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctctctcagcagctgcagcaGaaactgccacagcgtcacag	9	15	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:47500810G>A	uc004dik.3	-	3	353	c.31C>T	c.(31-33)CTG>TTG	p.L11L	ELK1_uc010nhv.2_Silent_p.L11L|ELK1_uc010nhw.2_5'UTR|ELK1_uc004dil.3_RNA	NM_001114123	NP_001107595	P19419	ELK1_HUMAN	ELK1 protein	11	ETS.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						AGCTGCAGCAGAAACTGCCAC	0.592													A	47500810	G	A	47500810	2	1	104	1	0	0	0	0	0	0	0	1	5059	933	33	4		4	ELK1	23	47500810	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	36049	47500810	107769750	6586	73200											
ZNF630	57232	broad.mit.edu	37	chrX	47919043	47919043	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccacacatactacaaacaTtgggtttctctctggcttga	6	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:47919043T>G	uc004div.3	-	5	1040	c.788A>C	c.(787-789)AAT>ACT	p.N263T	ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.N139T	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	zinc finger protein 630	263	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|lung(1)	2						ACTACAAACATTGGGTTTCTC	0.383													G	47919043	T	G	47919043	3	3	104	1	0	0	0	0	1	0	0	0	18051	1493	52	5	1189	5	ZNF630	23	47919043	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	418233	47919043	107351517	6587	73201											
PQBP1	10084	broad.mit.edu	37	chrX	48760018	48760018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacttccacagcagtaagccGaaaggatgaagagttagacc	10	10	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:48760018G>A	uc004dle.2	+	6	776	c.587G>A	c.(586-588)CGA>CAA	p.R196Q	PQBP1_uc004dlf.2_Missense_Mutation_p.R196Q|PQBP1_uc004dlg.2_Missense_Mutation_p.R196Q|PQBP1_uc004dld.2_RNA|PQBP1_uc004dlh.2_Missense_Mutation_p.R196Q|PQBP1_uc004dli.2_Missense_Mutation_p.R196Q|PQBP1_uc004dlj.1_3'UTR|PQBP1_uc004dln.2_Missense_Mutation_p.R195Q|PQBP1_uc010nih.2_RNA|PQBP1_uc010nii.2_Missense_Mutation_p.R154Q|PQBP1_uc004dlk.2_Missense_Mutation_p.R101Q|PQBP1_uc004dll.2_Missense_Mutation_p.R63Q|PQBP1_uc004dlm.2_Missense_Mutation_p.R154Q|PQBP1_uc010nij.2_Missense_Mutation_p.R96Q	NM_001032382	NP_001027554	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity			large_intestine(1)	1						GCAGTAAGCCGAAAGGATGAA	0.562													A	48760018	G	A	48760018	3	1	104	1	0	0	0	0	1	0	0	0	12417	1058	37	1	605	1	PQBP1	23	48760018	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	840975	48760018	106510542	6588	73202											
PIM2	11040	broad.mit.edu	37	chrX	48772563	48772563	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaggaccagcatgaagcccTcctgtgtctcaaaccagtca	9	14	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:48772563T>G	uc004dls.2	-	4	631	c.329A>C	c.(328-330)GAG>GCG	p.E110A		NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN	serine/threonine protein kinase pim-2	110	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						CATGAAGCCCTCCTGTGTCTC	0.597													G	48772563	T	G	48772563	3	3	104	1	0	0	0	0	1	0	0	0	11928	1551	54	5	618	5	PIM2	23	48772563	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	12545	48772563	106497997	6589	73203											
OTUD5	55593	broad.mit.edu	37	chrX	48791968	48791968	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caccatctttccctcacctaCccactgcagaagtacctgtg	5	17	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:48791968C>G	uc004dlu.2	-	4	986	c.925_splice	c.e4+1	p.E309_splice	OTUD5_uc004dlt.3_Intron|OTUD5_uc004dlv.2_Intron|OTUD5_uc011mmp.1_Intron	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN	OTU domain containing 5 isoform a						negative regulation of type I interferon production		cysteine-type peptidase activity			pancreas(1)	1						CCCTCACCTACCCACTGCAGA	0.537													G	48791968	C	G	48791968	5	3	104	1	0	0	0	0	0	0	1	0	11315	521	18	5	813	5	OTUD5	23	48791968	Splice_Site	SNP	C	TCGA-BR-8680-01A-11D-2394-08	19405	48791968	106478592	6590	73204											
OTUD5	55593	broad.mit.edu	37	chrX	48792100	48792100	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttaatgtaggtggtaaagTcctctgtgacatagttggag	13	4	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:48792100T>C	uc004dlu.2	-	4	855	c.794A>G	c.(793-795)GAC>GGC	p.D265G	OTUD5_uc004dlt.3_Missense_Mutation_p.D265G|OTUD5_uc004dlv.2_Missense_Mutation_p.D265G|OTUD5_uc011mmp.1_Missense_Mutation_p.D48G	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN	OTU domain containing 5 isoform a	265	OTU.				negative regulation of type I interferon production		cysteine-type peptidase activity			pancreas(1)	1						GGTGGTAAAGTCCTCTGTGAC	0.488													C	48792100	T	C	48792100	3	2	104	1	0	0	0	0	1	0	0	0	11315	1667	58	3	945	3	OTUD5	23	48792100	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	132	48792100	106478460	6591	73205											
KCND1	3750	broad.mit.edu	37	chrX	48825826	48825826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggcgccagagacatcgtCgttcttgggcaccaaaagcc	11	12	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:48825826C>T	uc004dlx.1	-	1	2426	c.853G>A	c.(853-855)GAC>AAC	p.D285N	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	285						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3						GAGACATCGTCGTTCTTGGGC	0.592													T	48825826	C	T	48825826	3	4	104	1	0	0	0	0	1	0	0	0	8018	884	31	1	1114	1	KCND1	23	48825826	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	33726	48825826	106444734	6592	73206											
CACNA1F	778	broad.mit.edu	37	chrX	49081339	49081339	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcccccacagaccacaaaGcagtcaaagcggttgaagaa	9	12	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:49081339G>T	uc004dnb.2	-	14	1856	c.1794C>A	c.(1792-1794)TGC>TGA	p.C598*	CACNA1F_uc010nip.2_Nonsense_Mutation_p.C587*	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	598	Helical; Name=S3 of repeat II; (Potential).|II.				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	AGACCACAAAGCAGTCAAAGC	0.562													T	49081339	G	T	49081339	4	4	104	1	0	0	0	0	0	1	0	0	2543	963	34	5	4279	5	CACNA1F	23	49081339	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	255513	49081339	106189221	6593	73207											
CCNB3	85417	broad.mit.edu	37	chrX	50052637	50052637	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccaccaagaagcctttaAttttaaagaggaagcatgcc	7	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:50052637A>C	uc004dox.3	+	6	1766	c.1468A>C	c.(1468-1470)ATT>CTT	p.I490L	CCNB3_uc004doy.2_Missense_Mutation_p.I490L|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	490					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					GAAGCCTTTAATTTTAAAGAG	0.448													C	50052637	A	C	50052637	3	2	104	1	0	0	0	0	1	0	0	0	2914	101	4	5	1482	5	CCNB3	23	50052637	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	971298	50052637	105217923	6594	73208											
CCNB3	85417	broad.mit.edu	37	chrX	50055601	50055601	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcaacccaatgtatgccaAggaaatcttcagttacatga	6	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:50055601A>C	uc004dox.3	+	7	3690	c.3392A>C	c.(3391-3393)AAG>ACG	p.K1131T	CCNB3_uc004doy.2_Missense_Mutation_p.K1131T|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Missense_Mutation_p.K23T	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	1131					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					ATGTATGCCAAGGAAATCTTC	0.388													C	50055601	A	C	50055601	3	2	104	1	0	0	0	0	1	0	0	0	2914	72	3	5	3410	5	CCNB3	23	50055601	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2964	50055601	105214959	6595	73209											
SHROOM4	57477	broad.mit.edu	37	chrX	50377847	50377847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgttcaggggcactatggCgatgccctgtgggtcctatg	15	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:50377847C>T	uc004dpe.2	-	4	1252	c.1226G>A	c.(1225-1227)CGC>CAC	p.R409H	SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.R293H	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	409					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					GGCACTATGGCGATGCCCTGT	0.577													T	50377847	C	T	50377847	3	4	104	1	0	0	0	0	1	0	0	0	14296	768	27	1	3279	1	SHROOM4	23	50377847	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	322246	50377847	104892713	6596	73210											
MAGED1	9500	broad.mit.edu	37	chrX	51638836	51638836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggagtcccggacaataattCggggcaagaggacccgcaag	14	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:51638836C>T	uc004dpm.2	+	3	828	c.733C>T	c.(733-735)CGG>TGG	p.R245W	MAGED1_uc004dpn.2_Missense_Mutation_p.R301W|MAGED1_uc004dpo.2_Missense_Mutation_p.R245W	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform b	245					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)					GACAATAATTCGGGGCAAGAG	0.498										Multiple Myeloma(10;0.10)			T	51638836	C	T	51638836	3	4	104	1	0	0	0	0	1	0	0	0	9183	875	31	1	911	1	MAGED1	23	51638836	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1260989	51638836	103631724	6597	73211											
HUWE1	10075	broad.mit.edu	37	chrX	53574690	53574690	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggtcgaagcagctacgAcaatggtggaaatagccgtg	14	8	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:53574690A>G	uc004dsp.2	-	68	10982	c.10580T>C	c.(10579-10581)GTC>GCC	p.V3527A	HUWE1_uc004dsn.2_Missense_Mutation_p.V2335A|HUWE1_uc004dsq.1_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3527	Thr-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						AGCAGCTACGACAATGGTGGA	0.498													G	53574690	A	G	53574690	3	3	104	1	0	0	0	0	1	0	0	0	7461	275	10	3	2612	3	HUWE1	23	53574690	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1935854	53574690	101695870	6598	73212											
HUWE1	10075	broad.mit.edu	37	chrX	53613488	53613488	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttttgaggagatggctgTcttttcatagaaatcaatca	8	7	4	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:53613488T>C	uc004dsp.2	-	39	5188	c.4786A>G	c.(4786-4788)ACA>GCA	p.T1596A	HUWE1_uc004dsn.2_Missense_Mutation_p.T421A	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	1596					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GAGATGGCTGTCTTTTCATAG	0.423													C	53613488	T	C	53613488	3	2	104	1	0	0	0	0	1	0	0	0	7461	1667	58	3	8522	3	HUWE1	23	53613488	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	38798	53613488	101657072	6599	73213											
FAM120C	54954	broad.mit.edu	37	chrX	54114280	54114280	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gccatcaaagtaaatccatgGacagcaatgctcccaaggga	9	11	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:54114280G>T	uc004dsz.3	-	12	2628	c.2545C>A	c.(2545-2547)CCA>ACA	p.P849T	FAM120C_uc011moh.1_Intron	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	849										ovary(1)|central_nervous_system(1)	2						TAAATCCATGGACAGCAATGC	0.537													T	54114280	G	T	54114280	3	4	104	1	0	0	0	0	1	0	0	0	5418	1174	41	5	765	5	FAM120C	23	54114280	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	500792	54114280	101156280	6600	73214											
FAM120C	54954	broad.mit.edu	37	chrX	54159186	54159186	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctctgtgtctctgccagActaaaaagaactccatatac	5	12	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:54159186A>C	uc004dsz.3	-	9	2084	c.2001T>G	c.(1999-2001)AGT>AGG	p.S667R	FAM120C_uc011moh.1_Missense_Mutation_p.S667R	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	667										ovary(1)|central_nervous_system(1)	2						TCTCTGCCAGACTAAAAAGAA	0.483													C	54159186	A	C	54159186	3	2	104	1	0	0	0	0	1	0	0	0	5418	272	10	5	1321	5	FAM120C	23	54159186	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	44906	54159186	101111374	6601	73215											
FGD1	2245	broad.mit.edu	37	chrX	54496803	54496803	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggggcactggtggctgCgaggttggctgtggcaacat	18	8	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:54496803C>T	uc004dtg.2	-	4	1481	c.747G>A	c.(745-747)TCG>TCA	p.S249S	FGD1_uc011moi.1_Silent_p.S7S	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	249	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						CTGGTGGCTGCGAGGTTGGCT	0.677													T	54496803	C	T	54496803	2	4	104	1	0	0	0	0	0	0	0	1	5832	755	27	1		1	FGD1	23	54496803	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	337617	54496803	100773757	6602	73216											
TRO	7216	broad.mit.edu	37	chrX	54955213	54955213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attgggatgacatggatatcGactgcctaacaagggaagag	13	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:54955213G>A	uc004dtq.2	+	12	2163	c.2056G>A	c.(2056-2058)GAC>AAC	p.D686N	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.D217N|TRO_uc004dtw.2_Missense_Mutation_p.D289N|TRO_uc004dtx.2_Missense_Mutation_p.D69N	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	686					embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						CATGGATATCGACTGCCTAAC	0.274													A	54955213	G	A	54955213	3	1	104	1	0	0	0	0	1	0	0	0	16571	1058	37	1	2098	1	TRO	23	54955213	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	458410	54955213	100315347	6603	73217											
MAGEH1	28986	broad.mit.edu	37	chrX	55479459	55479459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgctaggggttattccGccccttaagtagatctgagg	13	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:55479459G>A	uc004dum.2	+	1	922	c.652G>A	c.(652-654)GCC>ACC	p.A218T		NM_014061	NP_054780	Q9H213	MAGH1_HUMAN	melanoma antigen, family H, 1 protein	218					apoptosis					ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						GGGTTATTCCGCCCCTTAAGT	0.488													A	55479459	G	A	55479459	3	1	104	1	0	0	0	0	1	0	0	0	9188	1087	38	1	654	1	MAGEH1	23	55479459	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	524246	55479459	99791101	6604	73218											
SPIN3	169981	broad.mit.edu	37	chrX	57021144	57021144	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgataagatacagagagggAtttacaggtacctgatccag	11	6	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:57021144A>G	uc010nkj.2	-	2	523	c.237T>C	c.(235-237)AAT>AAC	p.N79N	SPIN3_uc004duu.3_Intron|SPIN3_uc004duw.3_Intron|SPIN3_uc004duv.3_Intron|SPIN3_uc004dux.1_Silent_p.N79N	NM_001010862	NP_001010862	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	79					gamete generation					ovary(1)|central_nervous_system(1)	2						ACAGAGAGGGATTTACAGGTA	0.433													G	57021144	A	G	57021144	2	3	104	1	0	0	0	0	0	0	0	1	15054	330	12	3		3	SPIN3	23	57021144	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1541685	57021144	98249416	6605	73219											
FAM123B	139285	broad.mit.edu	37	chrX	63412011	63412011	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcctctaattccacctcttCttcctcttcttcctcctcgt	1	19	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:63412011C>A	uc004dvo.2	-	2	1429	c.1156G>T	c.(1156-1158)GAA>TAA	p.E386*		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	386	Glu-rich.				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						tccacctcttcttcctcttct	0.348													A	63412011	C	A	63412011	4	1	104	1	0	0	0	0	0	1	0	0	5423	922	32	5	2255	5	FAM123B	23	63412011	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	6390867	63412011	91858549	6606	73220											
MSN	4478	broad.mit.edu	37	chrX	64936689	64936689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcatcctagatcagtgtgCgtgtgaccaccatggatgca	10	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:64936689C>T	uc004dwf.2	+	2	220	c.22C>T	c.(22-24)CGT>TGT	p.R8C	MSN_uc010nkp.1_RNA	NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	8	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						GATCAGTGTGCGTGTGACCAC	0.532			T	ALK	ALCL								T	64936689	C	T	64936689	3	4	104	1	0	0	0	0	1	0	0	0	9885	768	27	1	28	1	MSN	23	64936689	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1524678	64936689	90333871	6607	73221											
IL2RG	3561	broad.mit.edu	37	chrX	70331290	70331290	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccaccagctgtggtgtcttCattcccattgggcgtcagaa	10	13	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:70331290C>A	uc004dyw.1	-	1	114	c.100G>T	c.(100-102)GAA>TAA	p.E34*	IL2RG_uc004dyv.1_5'Flank|IL2RG_uc004dyx.1_Missense_Mutation_p.M3I	NM_000206	NP_000197	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma precursor	34	Extracellular (Potential).				immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			pancreas(1)	1	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GTGGTGTCTTCATTCCCATTG	0.577									Severe_Combined_Immunodeficiency_X-linked				A	70331290	C	A	70331290	4	1	104	1	0	0	0	0	0	1	0	0	7688	835	29	5	1041	5	IL2RG	23	70331290	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	5394601	70331290	84939270	6608	73222											
TAF1	6872	broad.mit.edu	37	chrX	70597031	70597031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaactttttccagaatttcGacctggaaaggtacattctg	8	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:70597031G>A	uc004dzu.3	+	5	752	c.701G>A	c.(700-702)CGA>CAA	p.R234Q	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R255Q	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	234	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				CCAGAATTTCGACCTGGAAAG	0.443													A	70597031	G	A	70597031	3	1	104	1	0	0	0	0	1	0	0	0	15510	1058	37	1	782	1	TAF1	23	70597031	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	265741	70597031	84673529	6609	73223											
TAF1	6872	broad.mit.edu	37	chrX	70601751	70601751	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttgacacttgatcccaatGatgagaacctcattttgggt	8	8	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:70601751G>A	uc004dzu.3	+	9	1567	c.1516G>A	c.(1516-1518)GAT>AAT	p.D506N	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.D527N	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	506					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				TGATCCCAATGATGAGAACCT	0.478													A	70601751	G	A	70601751	3	1	104	1	0	0	0	0	1	0	0	0	15510	1290	45	4	1613	4	TAF1	23	70601751	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4720	70601751	84668809	6610	73224											
TAF1	6872	broad.mit.edu	37	chrX	70608626	70608626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggtgcttaagtctgattttCgtttaccaacggaagaagag	12	6	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:70608626C>T	uc004dzu.3	+	17	2656	c.2605C>T	c.(2605-2607)CGT>TGT	p.R869C	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R890C|TAF1_uc004dzv.3_Missense_Mutation_p.R43C	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	869					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				GTCTGATTTTCGTTTACCAAC	0.433													T	70608626	C	T	70608626	3	4	104	1	0	0	0	0	1	0	0	0	15510	884	31	1	2734	1	TAF1	23	70608626	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	6875	70608626	84661934	6611	73225											
NAP1L2	4674	broad.mit.edu	37	chrX	72433253	72433253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaaatcttcagttacagttCggattgttccccagatccga	8	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:72433253C>T	uc004ebi.2	-	1	1432	c.1076G>A	c.(1075-1077)CGA>CAA	p.R359Q	NAP1L2_uc011mqj.1_Missense_Mutation_p.R217Q	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	359					nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)					AGTTACAGTTCGGATTGTTCC	0.373													T	72433253	C	T	72433253	3	4	104	1	0	0	0	0	1	0	0	0	10157	884	31	1	310	1	NAP1L2	23	72433253	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1824627	72433253	82837307	6612	73226											
NAP1L2	4674	broad.mit.edu	37	chrX	72433985	72433985	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctagtttgaagctttttaAgggctaacacacggtactta	8	8	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:72433985A>C	uc004ebi.2	-	1	700	c.344T>G	c.(343-345)CTT>CGT	p.L115R	NAP1L2_uc011mqj.1_5'UTR	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	115					nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)					AAGCTTTTTAAGGGCTAACAC	0.398													C	72433985	A	C	72433985	3	2	104	1	0	0	0	0	1	0	0	0	10157	72	3	5	1042	5	NAP1L2	23	72433985	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	732	72433985	82836575	6613	73227											
RLIM	51132	broad.mit.edu	37	chrX	73811613	73811613	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgactggggccctatgtcGaccctctcgcctggcacctg	12	15	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:73811613G>A	uc004ebu.2	-	5	1827	c.1537C>T	c.(1537-1539)CGA>TGA	p.R513*	RLIM_uc004ebw.2_Nonsense_Mutation_p.R513*	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	513					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						GCCCTATGTCGACCCTCTCGC	0.448													A	73811613	G	A	73811613	4	1	104	1	0	0	0	0	0	1	0	0	13390	1066	37	1	341	1	RLIM	23	73811613	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1377628	73811613	81458947	6614	73228											
KIAA2022	340533	broad.mit.edu	37	chrX	73965454	73965454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttctccgttggctgagGcaacaatagccttatcttgt	9	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:73965454G>A	uc004eby.2	-	2	649	c.32C>T	c.(31-33)GCC>GTC	p.A11V		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	11					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						GTTGGCTGAGGCAACAATAGC	0.348													A	73965454	G	A	73965454	3	1	104	1	0	0	0	0	1	0	0	0	8269	1203	42	2	4530	2	KIAA2022	23	73965454	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	153841	73965454	81305106	6615	73229											
ATRX	546	broad.mit.edu	37	chrX	76938401	76938401	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctgagccagatgtagaacTttttcgtttcctttttcctt	6	9	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:76938401T>G	uc004ecp.3	-	9	2579	c.2347A>C	c.(2347-2349)AGT>CGT	p.S783R	ATRX_uc004ecq.3_Missense_Mutation_p.S745R|ATRX_uc004eco.3_Missense_Mutation_p.S568R|ATRX_uc004ecr.2_Missense_Mutation_p.S715R|ATRX_uc010nlx.1_Missense_Mutation_p.S754R|ATRX_uc010nly.1_Missense_Mutation_p.S728R	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	783					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	GATGTAGAACTTTTTCGTTTC	0.303			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76938401	T	G	76938401	3	3	104	1	0	0	0	0	1	0	0	0	1208	1609	56	5	5239	5	ATRX	23	76938401	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2972947	76938401	78332159	6616	73230											
MAGT1	84061	broad.mit.edu	37	chrX	77096753	77096753	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacttactctttcgcttTccaatatccatgtcagaggt	8	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:77096753T>C	uc004fof.2	-	8	1049	c.987A>G	c.(985-987)GGA>GGG	p.G329G	MAGT1_uc004fog.3_RNA	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	297					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				upper_aerodigestive_tract(1)	1						TCTTTCGCTTTCCAATATCCA	0.378													C	77096753	T	C	77096753	2	2	104	1	0	0	0	0	0	0	0	1	9196	1770	62	3		3	MAGT1	23	77096753	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	158352	77096753	78173807	6617	73231											
DACH2	117154	broad.mit.edu	37	chrX	85404080	85404080	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcatcaccaggaaagacttCgaaactttgttcaccgattg	7	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:85404080C>T	uc004eew.2	+	1	626	c.456C>T	c.(454-456)TTC>TTT	p.F152F	DACH2_uc004eex.2_Silent_p.F152F|DACH2_uc010nmq.2_5'UTR	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	152	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						GGAAAGACTTCGAAACTTTGT	0.577													T	85404080	C	T	85404080	2	4	104	1	0	0	0	0	0	0	0	1	4221	883	31	1		1	DACH2	23	85404080	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	8307327	85404080	69866480	6618	73232											
KLHL4	56062	broad.mit.edu	37	chrX	86888822	86888822	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctatctaaatactgtagaAagatgggaccctgagggacg	12	7	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:86888822A>C	uc004efb.2	+	8	1805	c.1623A>C	c.(1621-1623)GAA>GAC	p.E541D	KLHL4_uc004efa.2_Missense_Mutation_p.E541D	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	541	Kelch 3.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						ATACTGTAGAAAGATGGGACC	0.408													C	86888822	A	C	86888822	3	2	104	1	0	0	0	0	1	0	0	0	8391	11	1	5	1653	5	KLHL4	23	86888822	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	1484742	86888822	68381738	6619	73233											
CPXCR1	53336	broad.mit.edu	37	chrX	88008703	88008703	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctacttcagacccccatTcccagaaaattggtctctca	4	15	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:88008703T>C	uc004efd.3	+	3	547	c.288T>C	c.(286-288)ATT>ATC	p.I96I	CPXCR1_uc004efc.3_Silent_p.I96I	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	96						intracellular	zinc ion binding			ovary(3)	3						AGACCCCCATTCCCAGAAAAT	0.408													C	88008703	T	C	88008703	2	2	104	1	0	0	0	0	0	0	0	1	3836	1771	62	3		3	CPXCR1	23	88008703	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1119881	88008703	67261857	6620	73234											
PCDH19	57526	broad.mit.edu	37	chrX	99662442	99662442	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgcccagcaaacggcacTgcacacgtccattgaggcct	9	15	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:99662442T>G	uc010nmz.2	-	1	2830	c.1154A>C	c.(1153-1155)CAG>CCG	p.Q385P	PCDH19_uc004efw.3_Missense_Mutation_p.Q385P|PCDH19_uc004efx.3_Missense_Mutation_p.Q385P	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	385	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						CAAACGGCACTGCACACGTCC	0.607													G	99662442	T	G	99662442	3	3	104	1	0	0	0	0	1	0	0	0	11514	1580	55	5	2316	5	PCDH19	23	99662442	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	11653739	99662442	55608118	6621	73235											
SRPX2	27286	broad.mit.edu	37	chrX	99920638	99920638	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaccgggccagctgcaagttCattgtgaaagtacaaggtca	11	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:99920638C>A	uc004egb.2	+	7	1245	c.765C>A	c.(763-765)TTC>TTA	p.F255L		NM_014467	NP_055282	O60687	SRPX2_HUMAN	sushi-repeat-containing protein, X-linked 2	255	HYR.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			ovary(2)	2						GCTGCAAGTTCATTGTGAAAG	0.498													A	99920638	C	A	99920638	3	1	104	1	0	0	0	0	1	0	0	0	15164	825	29	5	787	5	SRPX2	23	99920638	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	258196	99920638	55349922	6622	73236											
DRP2	1821	broad.mit.edu	37	chrX	100494085	100494085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggagcctcattctgagaGcaaaggtaggtggtcttctg	14	7	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:100494085G>A	uc004egz.2	+	6	923	c.554G>A	c.(553-555)AGC>AAC	p.S185N	DRP2_uc011mrh.1_Missense_Mutation_p.S107N	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	185					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						CATTCTGAGAGCAAAGGTAGG	0.502													A	100494085	G	A	100494085	3	1	104	1	0	0	0	0	1	0	0	0	4764	971	34	2	568	2	DRP2	23	100494085	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	573447	100494085	54776475	6623	73237											
NXF5	55998	broad.mit.edu	37	chrX	101096040	101096040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcagccatgcagtttcttCgattcaggattatatcaatg	9	8	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:101096040C>T	uc011mrk.1	-	8	788	c.428G>A	c.(427-429)CGA>CAA	p.R143Q	NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	143					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			central_nervous_system(1)	1						GCAGTTTCTTCGATTCAGGAT	0.522													T	101096040	C	T	101096040	3	4	104	1	0	0	0	0	1	0	0	0	10786	884	31	1	705	1	NXF5	23	101096040	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	601955	101096040	54174520	6624	73238											
TCEAL2	140597	broad.mit.edu	37	chrX	101381919	101381919	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcttgtattctggaagacaaGaagttagaaaacgagggaaa	12	4	1	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:101381919G>T	uc004eip.2	+	3	336	c.117G>T	c.(115-117)AAG>AAT	p.K39N		NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						TGGAAGACAAGAAGTTAGAAA	0.373													T	101381919	G	T	101381919	3	4	104	1	0	0	0	0	1	0	0	0	15668	933	33	5	119	5	TCEAL2	23	101381919	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	285879	101381919	53888641	6625	73239											
TCEAL6	158931	broad.mit.edu	37	chrX	101396254	101396254	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctacttcatcttctggcTttccctcgttttccaggttt	6	13	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:101396254T>G	uc004eiq.2	-	3	211	c.50A>C	c.(49-51)AAG>ACG	p.K17T		NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	17	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						atcttctggctttccctcGTT	0.204													G	101396254	T	G	101396254	3	3	104	1	0	0	0	0	1	0	0	0	15672	1609	56	5	505	5	TCEAL6	23	101396254	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	14335	101396254	53874306	6626	73240											
GPRASP1	9737	broad.mit.edu	37	chrX	101911263	101911263	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaggctagcagctgagaaaGaaggtattgttgggtcctgg	15	6	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:101911263G>T	uc004ejj.3	+	5	3223	c.2422G>T	c.(2422-2424)GAA>TAA	p.E808*	GPRASP1_uc004eji.3_Nonsense_Mutation_p.E808*|GPRASP1_uc010nod.2_Nonsense_Mutation_p.E808*	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	808	Glu-rich.					cytoplasm	protein binding			ovary(1)|lung(1)	2						AGCTGAGAAAGAAGGTATTGT	0.507													T	101911263	G	T	101911263	4	4	104	1	0	0	0	0	0	1	0	0	6722	943	33	5	2424	5	GPRASP1	23	101911263	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	515009	101911263	53359297	6627	73241											
BHLHB9	80823	broad.mit.edu	37	chrX	102005180	102005180	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtcatttcctttgaactcAccgggacagcaatctggatt	8	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:102005180A>G	uc010nog.2	+	4	1828	c.1257A>G	c.(1255-1257)TCA>TCG	p.S419S	BHLHB9_uc011mrq.1_Silent_p.S419S|BHLHB9_uc011mrr.1_Silent_p.S419S|BHLHB9_uc011mrs.1_Silent_p.S419S|BHLHB9_uc011mrt.1_Silent_p.S419S|BHLHB9_uc004ejo.2_Silent_p.S419S|BHLHB9_uc011mru.1_Silent_p.S419S|BHLHB9_uc011mrv.1_Silent_p.S419S	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	419						cytoplasm|nucleus	binding			ovary(2)	2						CTTTGAACTCACCGGGACAGC	0.373													G	102005180	A	G	102005180	2	3	104	1	0	0	0	0	0	0	0	1	1420	146	6	3		3	BHLHB9	23	102005180	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	93917	102005180	53265380	6628	73242											
TCEAL1	9338	broad.mit.edu	37	chrX	102885266	102885266	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaagagatgaaaagagtaaGaaacaaactgatgataatgc	10	3	0	7			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:102885266G>T	uc004eks.2	+	3	596	c.422G>T	c.(421-423)AGA>ATA	p.R141I	TCEAL1_uc004ekt.2_Missense_Mutation_p.R141I|TCEAL1_uc004eku.2_Missense_Mutation_p.R141I	NM_001006640	NP_001006641	Q15170	TCAL1_HUMAN	transcription elongation factor A (SII)-like 1	139					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						AAAAGAGTAAGAAACAAACTG	0.303													T	102885266	G	T	102885266	3	4	104	1	0	0	0	0	1	0	0	0	15667	942	33	5	424	5	TCEAL1	23	102885266	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	880086	102885266	52385294	6629	73243											
GLRA4	441509	broad.mit.edu	37	chrX	102962423	102962423	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacggaaatagaaacgacttTcttggatgatatcttcctcc	7	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:102962423T>C	uc011mse.1	-	9	1524	c.1103A>G	c.(1102-1104)GAA>GGA	p.E368G		NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4 precursor	368	Extracellular (Potential).					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity				0						GAAACGACTTTCTTGGATGAT	0.478													C	102962423	T	C	102962423	3	2	104	1	0	0	0	0	1	0	0	0	6457	1783	62	3	153	3	GLRA4	23	102962423	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	77157	102962423	52308137	6630	73244											
IL1RAPL2	26280	broad.mit.edu	37	chrX	105011054	105011054	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agacggggatggagtattttCgaactggaaagcagactcca	13	7	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:105011054C>T	uc004elz.1	+	11	2217	c.1461C>T	c.(1459-1461)TTC>TTT	p.F487F		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	487	Cytoplasmic (Potential).|TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						GGAGTATTTTCGAACTGGAAA	0.388													T	105011054	C	T	105011054	2	4	104	1	0	0	0	0	0	0	0	1	7662	883	31	1		1	IL1RAPL2	23	105011054	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2048631	105011054	50259506	6631	73245											
MUM1L1	139221	broad.mit.edu	37	chrX	105449594	105449594	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggacagcacagaaacaaagAtcctaaataaatctcaaatt	5	8	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:105449594A>G	uc004emf.1	+	4	818	c.169A>G	c.(169-171)ATC>GTC	p.I57V	MUM1L1_uc004emg.1_Missense_Mutation_p.I57V	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	57										ovary(2)|pancreas(1)|skin(1)	4						AGAAACAAAGATCCTAAATAA	0.378													G	105449594	A	G	105449594	3	3	104	1	0	0	0	0	1	0	0	0	9986	333	12	3	171	3	MUM1L1	23	105449594	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	438540	105449594	49820966	6632	73246											
IRS4	8471	broad.mit.edu	37	chrX	107976445	107976445	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggtcgaccacatagattcGacctgtttcagcatcatagc	9	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:107976445G>A	uc004eoc.2	-	1	3163	c.3130C>T	c.(3130-3132)CGA>TGA	p.R1044*		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	1044						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						ACATAGATTCGACCTGTTTCA	0.488													A	107976445	G	A	107976445	4	1	104	1	0	0	0	0	0	1	0	0	7842	1066	37	1	647	1	IRS4	23	107976445	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2526851	107976445	47294115	6633	73247											
IRS4	8471	broad.mit.edu	37	chrX	107978696	107978696	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtggacctgcctacttccaaGaagaaatactgctccgagtg	10	11	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:107978696G>T	uc004eoc.2	-	1	912	c.879C>A	c.(877-879)TTC>TTA	p.F293L		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	293	IRS-type PTB.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CTACTTCCAAGAAGAAATACT	0.557													T	107978696	G	T	107978696	3	4	104	1	0	0	0	0	1	0	0	0	7842	933	33	5	2898	5	IRS4	23	107978696	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2251	107978696	47291864	6634	73248											
GUCY2F	2986	broad.mit.edu	37	chrX	108638569	108638569	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataagattcagagtccttaCctggttaaatatttcatcaa	6	7	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:108638569C>T	uc004eod.3	-	12	2700	c.2424_splice	c.e12+1	p.Q808_splice	GUCY2F_uc011msq.1_Splice_Site	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor						intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						AGAGTCCTTACCTGGTTAAAT	0.488													T	108638569	C	T	108638569	5	4	104	1	0	0	0	0	0	0	1	0	6898	521	18	4	933	4	GUCY2F	23	108638569	Splice_Site	SNP	C	TCGA-BR-8680-01A-11D-2394-08	659873	108638569	46631991	6635	73249											
GUCY2F	2986	broad.mit.edu	37	chrX	108638641	108638641	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcactgcttcatcagctggaGacattctggaggggcatgct	13	10	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:108638641G>T	uc004eod.3	-	12	2629	c.2353C>A	c.(2353-2355)CTC>ATC	p.L785I	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	785	Protein kinase.|Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						ATCAGCTGGAGACATTCTGGA	0.468													T	108638641	G	T	108638641	3	4	104	1	0	0	0	0	1	0	0	0	6898	942	33	5	1005	5	GUCY2F	23	108638641	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	72	108638641	46631919	6636	73250											
RGAG1	57529	broad.mit.edu	37	chrX	109696171	109696171	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caccactaatgagaacctcaGaccctggagagaggccctca	9	14	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:109696171G>T	uc004eor.1	+	3	2572	c.2326G>T	c.(2326-2328)GAC>TAC	p.D776Y	RGAG1_uc011msr.1_Missense_Mutation_p.D776Y	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	776										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						GAGAACCTCAGACCCTGGAGA	0.527													T	109696171	G	T	109696171	3	4	104	1	0	0	0	0	1	0	0	0	13274	942	33	5	2328	5	RGAG1	23	109696171	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1057530	109696171	45574389	6637	73251											
PAK3	5063	broad.mit.edu	37	chrX	110385348	110385348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagaagaaggagaaagagcGcccagagatctctcttcctt	10	9	2	5			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:110385348G>A	uc004epa.2	+	2	227	c.200G>A	c.(199-201)CGC>CAC	p.R67H	PAK3_uc010npt.1_Missense_Mutation_p.R67H|PAK3_uc010npu.1_Missense_Mutation_p.R67H|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.R67H|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.R67H|PAK3_uc010npw.1_Missense_Mutation_p.R67H	NM_001128173	NP_001121645	O75914	PAK3_HUMAN	p21-activated kinase 3 isoform d	67	Autoregulatory region (By similarity).|GTPase-binding (By similarity).		R -> C (in MRX30).		multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			lung(6)|ovary(3)|large_intestine(1)	10						GAGAAAGAGCGCCCAGAGATC	0.403										TSP Lung(19;0.15)			A	110385348	G	A	110385348	3	1	104	1	0	0	0	0	1	0	0	0	11402	1087	38	1	206	1	PAK3	23	110385348	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	689177	110385348	44885212	6638	73252											
PAK3	5063	broad.mit.edu	37	chrX	110406810	110406810	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctatactcgttctgtggtTgaatccattgcttcaccagc	7	11	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:110406810T>G	uc004epa.2	+	7	693	c.666T>G	c.(664-666)GTT>GTG	p.V222V	PAK3_uc010npt.1_Silent_p.V207V|PAK3_uc010npu.1_Silent_p.V207V|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Silent_p.V207V|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Silent_p.V243V|PAK3_uc010npw.1_Silent_p.V228V	NM_001128173	NP_001121645	O75914	PAK3_HUMAN	p21-activated kinase 3 isoform d	222	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			lung(6)|ovary(3)|large_intestine(1)	10						GTTCTGTGGTTGAATCCATTG	0.403										TSP Lung(19;0.15)			G	110406810	T	G	110406810	2	3	104	1	0	0	0	0	0	0	0	1	11402	1799	63	5		5	PAK3	23	110406810	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	21462	110406810	44863750	6639	73253											
ALG13	79868	broad.mit.edu	37	chrX	110928252	110928252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactcgtagtggttataaacGaaaagttgatgaacaatcat	8	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:110928252G>A	uc011msy.1	+	3	338	c.304G>A	c.(304-306)GAA>AAA	p.E102K	ALG13_uc004epi.1_Missense_Mutation_p.E102K|ALG13_uc011msw.1_Missense_Mutation_p.E24K|ALG13_uc011msx.1_5'UTR|ALG13_uc011msz.1_Missense_Mutation_p.E24K|ALG13_uc011mta.1_5'UTR|ALG13_uc011mtb.1_5'UTR			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	102					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1						GGTTATAAACGAAAAGTTGAT	0.383													A	110928252	G	A	110928252	3	1	104	1	0	0	0	0	1	0	0	0	515	1059	37	1	314	1	ALG13	23	110928252	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	521442	110928252	44342308	6640	73254											
ALG13	79868	broad.mit.edu	37	chrX	110988113	110988113	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttattcctgtgatccaagCggcagtgatttgcctcaagg	10	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:110988113C>T	uc011msy.1	+	24	2947	c.2913C>T	c.(2911-2913)AGC>AGT	p.S971S	ALG13_uc011msx.1_Intron|ALG13_uc011msz.1_Silent_p.S893S|ALG13_uc011mta.1_Intron|ALG13_uc011mtb.1_Intron			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	971					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1						GTGATCCAAGCGGCAGTGATT	0.284													T	110988113	C	T	110988113	2	4	104	1	0	0	0	0	0	0	0	1	515	767	27	1		1	ALG13	23	110988113	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	59861	110988113	44282447	6641	73255											
TRPC5	7224	broad.mit.edu	37	chrX	111155848	111155848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcgggagcgagagtggcGcaggctgtctacctctgaac	15	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:111155848G>A	uc004epl.1	-	3	1490	c.571C>T	c.(571-573)CGC>TGC	p.R191C	TRPC5_uc004epm.1_Missense_Mutation_p.R191C	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	191	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						CGAGAGTGGCGCAGGCTGTCT	0.547													A	111155848	G	A	111155848	3	1	104	1	0	0	0	0	1	0	0	0	16579	1087	38	1	2386	1	TRPC5	23	111155848	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	167735	111155848	44114712	6642	73256											
HTR2C	3358	broad.mit.edu	37	chrX	114082759	114082759	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attgctattgtttgggcaatTtctataggtaaataaaactt	7	4	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:114082759T>G	uc004epu.1	+	5	1271	c.543T>G	c.(541-543)ATT>ATG	p.I181M	HTR2C_uc010nqc.1_Missense_Mutation_p.I181M|HTR2C_uc004epv.1_Intron	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	181	Helical; Name=4; (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TTTGGGCAATTTCTATAGGTA	0.408													G	114082759	T	G	114082759	3	3	104	1	0	0	0	0	1	0	0	0	7443	1829	64	5	553	5	HTR2C	23	114082759	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2926911	114082759	41187801	6643	73257											
LRCH2	57631	broad.mit.edu	37	chrX	114357648	114357648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcaatctgacttacgttgcGaagttgtcgtatttgctctc	9	9	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:114357648G>A	uc010nqe.2	-	18	1988	c.1957C>T	c.(1957-1959)CGC>TGC	p.R653C	LRCH2_uc004epz.2_Missense_Mutation_p.R636C	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH)	653	CH.									ovary(1)	1						CTTACGTTGCGAAGTTGTCGT	0.413													A	114357648	G	A	114357648	3	1	104	1	0	0	0	0	1	0	0	0	8933	1058	37	1	356	1	LRCH2	23	114357648	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	274889	114357648	40912912	6644	73258											
AGTR2	186	broad.mit.edu	37	chrX	115304594	115304594	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcttgccggaaaagcagttCtcttagagaaatggagacct	11	8	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:115304594C>A	uc004eqh.3	+	3	1268	c.1061C>A	c.(1060-1062)TCT>TAT	p.S354Y		NM_000686	NP_000677	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	354	Cytoplasmic (Potential).				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			ovary(2)|lung(1)	3						AAAAGCAGTTCTCTTAGAGAA	0.428													A	115304594	C	A	115304594	3	1	104	1	0	0	0	0	1	0	0	0	402	913	32	5	1063	5	AGTR2	23	115304594	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	946946	115304594	39965966	6645	73259											
DOCK11	139818	broad.mit.edu	37	chrX	117805097	117805097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccaatttatgagaaacgtCgtgagtttgaggtaggcaat	11	5	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:117805097C>T	uc004eqp.2	+	46	5251	c.5188C>T	c.(5188-5190)CGT>TGT	p.R1730C	DOCK11_uc004eqq.2_Missense_Mutation_p.R1509C	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1730	DHR-2.				blood coagulation	cytosol	GTP binding			ovary(3)	3						TGAGAAACGTCGTGAGTTTGA	0.338													T	117805097	C	T	117805097	3	4	104	1	0	0	0	0	1	0	0	0	4686	884	31	1	5370	1	DOCK11	23	117805097	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2500503	117805097	37465463	6646	73260											
KIAA1210	57481	broad.mit.edu	37	chrX	118230472	118230472	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttacaatcacttgaaggttCttcttttgtttgcggggatt	9	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:118230472C>A	uc004era.3	-	8	1251	c.1251G>T	c.(1249-1251)AAG>AAT	p.K417N		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	417										ovary(4)|skin(1)	5						CTTGAAGGTTCTTCTTTTGTT	0.453													A	118230472	C	A	118230472	3	1	104	1	0	0	0	0	1	0	0	0	8214	912	32	5	3906	5	KIAA1210	23	118230472	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	425375	118230472	37040088	6647	73261											
CUL4B	8450	broad.mit.edu	37	chrX	119673163	119673163	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcataattttatccaacatTttctcaagttcttcatctgt	2	9	5	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:119673163T>G	uc004esw.2	-	14	2192	c.1755A>C	c.(1753-1755)AAA>AAC	p.K585N	CUL4B_uc010nqq.2_Missense_Mutation_p.K284N|CUL4B_uc004esv.2_Missense_Mutation_p.K567N	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	cullin 4B isoform 1	585					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3						TATCCAACATTTTCTCAAGTT	0.294													G	119673163	T	G	119673163	3	3	104	1	0	0	0	0	1	0	0	0	4058	1838	64	5	1022	5	CUL4B	23	119673163	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	1442691	119673163	35597397	6648	73262											
CUL4B	8450	broad.mit.edu	37	chrX	119694325	119694325	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggaagaggtggaatcaaagtCttctctctcgttactactgt	10	8	4	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:119694325C>A	uc004esw.2	-	3	660	c.223G>T	c.(223-225)GAC>TAC	p.D75Y	CUL4B_uc004esv.2_Missense_Mutation_p.D57Y	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	cullin 4B isoform 1	75	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3						GAATCAAAGTCTTCTCTCTCG	0.443													A	119694325	C	A	119694325	3	1	104	1	0	0	0	0	1	0	0	0	4058	913	32	5	2598	5	CUL4B	23	119694325	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	21162	119694325	35576235	6649	73263											
C1GALT1C1	29071	broad.mit.edu	37	chrX	119760099	119760099	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccatttggaggtaagaaaAccaatgcatcattgaaaata	7	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:119760099A>G	uc004esy.2	-	3	1270	c.923T>C	c.(922-924)GTT>GCT	p.V308A	C1GALT1C1_uc004esz.2_Missense_Mutation_p.V308A	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	308	Lumenal (Potential).					integral to membrane					0						AGGTAAGAAAACCAATGCATC	0.388													G	119760099	A	G	119760099	3	3	104	1	0	0	0	0	1	0	0	0	1953	43	2	3	37	3	C1GALT1C1	23	119760099	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	65774	119760099	35510461	6650	73264											
XIAP	331	broad.mit.edu	37	chrX	123020225	123020225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggccggaatcttaatattcGaagtgaatctgatgctgtga	12	6	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:123020225G>A	uc010nqu.2	+	2	839	c.713G>A	c.(712-714)CGA>CAA	p.R238Q	XIAP_uc004etx.2_Missense_Mutation_p.R238Q|XIAP_uc010nqv.2_Intron	NM_001167	NP_001158	P98170	XIAP_HUMAN	baculoviral IAP repeat-containing protein 4	238					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			ovary(1)|lung(1)	2						CTTAATATTCGAAGTGAATCT	0.408									X-linked_Lymphoproliferative_syndrome				A	123020225	G	A	123020225	3	1	104	1	0	0	0	0	1	0	0	0	17425	1058	37	1	715	1	XIAP	23	123020225	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	3260126	123020225	32250335	6651	73265											
STAG2	10735	broad.mit.edu	37	chrX	123171427	123171427	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcatgaccgagatatagcActtcttgaccttatcaactt	6	10	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:123171427A>C	uc004etz.3	+	5	678	c.339A>C	c.(337-339)GCA>GCC	p.A113A	STAG2_uc004eua.2_Silent_p.A113A|STAG2_uc004eub.2_Silent_p.A113A|STAG2_uc004euc.2_Silent_p.A113A|STAG2_uc004eud.2_Silent_p.A113A|STAG2_uc004eue.2_Silent_p.A113A	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	113					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						GAGATATAGCACTTCTTGACC	0.343													C	123171427	A	C	123171427	2	2	104	1	0	0	0	0	0	0	0	1	15242	146	6	5		5	STAG2	23	123171427	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	151202	123171427	32099133	6652	73266											
STAG2	10735	broad.mit.edu	37	chrX	123202434	123202434	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaggacttgctgcgtttaaaGaaacaaatgagagtattttg	11	4	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:123202434G>A	uc004etz.3	+	23	2625	c.2286G>A	c.(2284-2286)AAG>AAA	p.K762K	STAG2_uc004eua.2_Silent_p.K762K|STAG2_uc004eub.2_Silent_p.K762K|STAG2_uc004euc.2_Silent_p.K762K|STAG2_uc004eud.2_Silent_p.K762K|STAG2_uc004eue.2_Silent_p.K762K	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	762					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						TGCGTTTAAAGAAACAAATGA	0.274													A	123202434	G	A	123202434	2	1	104	1	0	0	0	0	0	0	0	1	15242	933	33	4		4	STAG2	23	123202434	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	31007	123202434	32068126	6653	73267											
ODZ1	10178	broad.mit.edu	37	chrX	123517913	123517913	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagcttgtgtggttgtacaAatgagtaactcttatggggt	13	5	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:123517913A>C	uc004euj.2	-	29	6911	c.6847T>G	c.(6847-6849)TTG>GTG	p.L2283V	ODZ1_uc011muj.1_Missense_Mutation_p.L2289V|ODZ1_uc010nqy.2_Missense_Mutation_p.L2290V	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	2283	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TGGTTGTACAAATGAGTAACT	0.458													C	123517913	A	C	123517913	3	2	104	1	0	0	0	0	1	0	0	0	10834	11	1	5	1342	5	ODZ1	23	123517913	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	315479	123517913	31752647	6654	73268											
ODZ1	10178	broad.mit.edu	37	chrX	123538903	123538903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagcctcctttcaaaagccGaaacattgcctttgttttgc	6	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:123538903G>A	uc004euj.2	-	26	5412	c.5348C>T	c.(5347-5349)TCG>TTG	p.S1783L	ODZ1_uc011muj.1_Missense_Mutation_p.S1789L|ODZ1_uc010nqy.2_Missense_Mutation_p.S1790L	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1783	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TTCAAAAGCCGAAACATTGCC	0.388													A	123538903	G	A	123538903	3	1	104	1	0	0	0	0	1	0	0	0	10834	1059	37	1	2853	1	ODZ1	23	123538903	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	20990	123538903	31731657	6655	73269											
ODZ1	10178	broad.mit.edu	37	chrX	123657246	123657246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacaatagttcccctctctgGacaggaccctccaaatgatg	7	13	1	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:123657246G>A	uc004euj.2	-	17	3065	c.3001C>T	c.(3001-3003)CCA>TCA	p.P1001S	ODZ1_uc011muj.1_Missense_Mutation_p.P1000S|ODZ1_uc010nqy.2_Missense_Mutation_p.P1001S	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1001	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						CCCCTCTCTGGACAGGACCCT	0.443													A	123657246	G	A	123657246	3	1	104	1	0	0	0	0	1	0	0	0	10834	1174	41	4	5261	4	ODZ1	23	123657246	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	118343	123657246	31613314	6656	73270											
ODZ1	10178	broad.mit.edu	37	chrX	123870961	123870961	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccgctgcagggggtggctTcctggcacaggtgcaggcat	17	11	0	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:123870961T>G	uc004euj.2	-	4	686	c.622A>C	c.(622-624)AAG>CAG	p.K208Q	ODZ1_uc011muj.1_Missense_Mutation_p.K208Q|ODZ1_uc010nqy.2_Missense_Mutation_p.K208Q	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	208	Teneurin N-terminal.|Cytoplasmic (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						GGGGGTGGCTTCCTGGCACAG	0.622													G	123870961	T	G	123870961	3	3	104	1	0	0	0	0	1	0	0	0	10834	1792	62	5	7692	5	ODZ1	23	123870961	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	213715	123870961	31399599	6657	73271											
ACTRT1	139741	broad.mit.edu	37	chrX	127186142	127186142	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagtcctgaaccattgTcaaaaattacagcaggaaca	8	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:127186142T>C	uc004eum.2	-	1	241	c.44A>G	c.(43-45)GAC>GGC	p.D15G		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	15						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)|skin(1)	5						TGAACCATTGTCAAAAATTAC	0.433													C	127186142	T	C	127186142	3	2	104	1	0	0	0	0	1	0	0	0	218	1667	58	3	1090	3	ACTRT1	23	127186142	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	3315181	127186142	28084418	6658	73272											
SMARCA1	6594	broad.mit.edu	37	chrX	128599549	128599549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctaaactggggagcatttCgtacacactgtcttaattct	7	9	3	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:128599549C>T	uc004eun.3	-	23	3091	c.2978G>A	c.(2977-2979)CGA>CAA	p.R993Q	SMARCA1_uc004eup.3_Missense_Mutation_p.R981Q|SMARCA1_uc011muk.1_Missense_Mutation_p.R993Q|SMARCA1_uc011mul.1_Missense_Mutation_p.R981Q	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	993	SANT 2.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			ovary(3)|skin(1)	4						GGGAGCATTTCGTACACACTG	0.338													T	128599549	C	T	128599549	3	4	104	1	0	0	0	0	1	0	0	0	14768	884	31	1	194	1	SMARCA1	23	128599549	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1413407	128599549	26671011	6659	73273											
SMARCA1	6594	broad.mit.edu	37	chrX	128599864	128599864	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tactgatccttcgttgaattCttgcttctccacgttcaatt	5	11	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:128599864C>T	uc004eun.3	-	22	2887	c.2774G>A	c.(2773-2775)AGA>AAA	p.R925K	SMARCA1_uc004eup.3_Missense_Mutation_p.R913K|SMARCA1_uc011muk.1_Missense_Mutation_p.R925K|SMARCA1_uc011mul.1_Missense_Mutation_p.R913K	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	925					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			ovary(3)|skin(1)	4						TCGTTGAATTCTTGCTTCTCC	0.338													T	128599864	C	T	128599864	3	4	104	1	0	0	0	0	1	0	0	0	14768	913	32	4	402	4	SMARCA1	23	128599864	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	315	128599864	26670696	6660	73274											
SASH3	54440	broad.mit.edu	37	chrX	128926655	128926655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtgggcacgtggctggGcctactcaatggcaaggtgg	16	10	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:128926655G>A	uc011mun.1	+	6	826	c.644G>A	c.(643-645)GGC>GAC	p.G215D	SASH3_uc004euu.2_Missense_Mutation_p.G215D|SASH3_uc011muo.1_Missense_Mutation_p.G182D	NM_018990	NP_061863	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	215	SH3.									ovary(2)|pancreas(1)	3						ACGTGGCTGGGCCTACTCAAT	0.468													A	128926655	G	A	128926655	3	1	104	1	0	0	0	0	1	0	0	0	13849	1203	42	2	666	2	SASH3	23	128926655	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	326791	128926655	26343905	6661	73275											
USP26	83844	broad.mit.edu	37	chrX	132159805	132159805	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatctcccttatcatcatttCtttttgtttccttggcttta	4	10	4	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:132159805C>A	uc010nrm.1	-	6	2914	c.2444G>T	c.(2443-2445)AGA>ATA	p.R815I	USP26_uc011mvf.1_Missense_Mutation_p.R815I	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	815					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					ATCATCATTTCTTTTTGTTTC	0.383													A	132159805	C	A	132159805	3	1	104	1	0	0	0	0	1	0	0	0	17054	913	32	5	300	5	USP26	23	132159805	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3233150	132159805	23110755	6662	73276											
CCDC160	347475	broad.mit.edu	37	chrX	133379644	133379644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catattatgaattagaaatgGcaaagatccgcggagagctc	10	7	0	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:133379644G>A	uc011mvj.1	+	2	1135	c.814G>A	c.(814-816)GCA>ACA	p.A272T		NM_001101357	NP_001094827	A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	272	Potential.									skin(1)	1						ATTAGAAATGGCAAAGATCCG	0.378													A	133379644	G	A	133379644	3	1	104	1	0	0	0	0	1	0	0	0	2792	1203	42	2	816	2	CCDC160	23	133379644	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	1219839	133379644	21890916	6663	73277											
CXorf48	54967	broad.mit.edu	37	chrX	134303569	134303569	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttccacaaccacattAactttttgtccaacttttag	2	12	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:134303569A>C	uc004eyk.1	-	2	884	c.228T>G	c.(226-228)GTT>GTG	p.V76V	CXorf48_uc004eyl.1_Silent_p.V76V	NM_001031705	NP_001026875	Q8WUE5	CX048_HUMAN	hypothetical protein LOC54967 isoform 1	76											0	Acute lymphoblastic leukemia(192;0.000127)					CAACCACATTAACTTTTTGTC	0.413													C	134303569	A	C	134303569	2	2	104	1	0	0	0	0	0	0	0	1	4111	349	13	5		5	CXorf48	23	134303569	Silent	SNP	A	TCGA-BR-8680-01A-11D-2394-08	923925	134303569	20966991	6664	73278											
SAGE1	55511	broad.mit.edu	37	chrX	134991090	134991090	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaccccaaactgataaggtCatatcaaatgatgcaccaca	5	11	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:134991090C>A	uc004ezh.2	+	13	1676	c.1509C>A	c.(1507-1509)GTC>GTA	p.V503V	SAGE1_uc010nry.1_Silent_p.V472V|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	503										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					CTGATAAGGTCATATCAAATG	0.448													A	134991090	C	A	134991090	2	1	104	1	0	0	0	0	0	0	0	1	13809	813	29	5		5	SAGE1	23	134991090	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	687521	134991090	20279470	6665	73279											
SAGE1	55511	broad.mit.edu	37	chrX	134993842	134993842	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccagagctgataaatatgAcaggacattgtatgccaccc	8	11	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:134993842A>G	uc004ezh.2	+	18	2418	c.2251A>G	c.(2251-2253)ACA>GCA	p.T751A	SAGE1_uc010nry.1_Missense_Mutation_p.T720A|SAGE1_uc011mvv.1_Missense_Mutation_p.T375A	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	751										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GATAAATATGACAGGACATTG	0.418													G	134993842	A	G	134993842	3	3	104	1	0	0	0	0	1	0	0	0	13809	275	10	3	2317	3	SAGE1	23	134993842	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	2752	134993842	20276718	6666	73280											
SAGE1	55511	broad.mit.edu	37	chrX	134994097	134994097	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcaattaatgaaagaagttCgaaggtttgggcaaagtaag	11	3	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:134994097C>T	uc004ezh.2	+	18	2673	c.2506C>T	c.(2506-2508)CGA>TGA	p.R836*	SAGE1_uc010nry.1_Nonsense_Mutation_p.R805*|SAGE1_uc011mvv.1_Nonsense_Mutation_p.R460*	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	836										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GAAAGAAGTTCGAAGGTTTGG	0.353													T	134994097	C	T	134994097	4	4	104	1	0	0	0	0	0	1	0	0	13809	876	31	1	2572	1	SAGE1	23	134994097	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	255	134994097	20276463	6667	73281											
MAP7D3	79649	broad.mit.edu	37	chrX	135303041	135303041	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctggtaccatcttctagaAataccagcttgtgtgtcatt	9	9	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:135303041A>C	uc004ezt.2	-	16	2460	c.2369T>G	c.(2368-2370)TTT>TGT	p.F790C	MAP7D3_uc004ezs.2_Missense_Mutation_p.F754C|MAP7D3_uc011mwc.1_Missense_Mutation_p.F772C|MAP7D3_uc010nsa.1_Missense_Mutation_p.F748C	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	790						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					ATCTTCTAGAAATACCAGCTT	0.368													C	135303041	A	C	135303041	3	2	104	1	0	0	0	0	1	0	0	0	9269	14	1	5	273	5	MAP7D3	23	135303041	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	308944	135303041	19967519	6668	73282											
GPR112	139378	broad.mit.edu	37	chrX	135431650	135431650	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcacagcctctcagactggtCtagtatctaaagatgtcatg	8	10	5	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:135431650C>T	uc004ezu.1	+	6	6076	c.5785C>T	c.(5785-5787)CTA>TTA	p.L1929L	GPR112_uc010nsb.1_Silent_p.L1724L|GPR112_uc010nsc.1_Silent_p.L1696L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1929	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					TCAGACTGGTCTAGTATCTAA	0.413													T	135431650	C	T	135431650	2	4	104	1	0	0	0	0	0	0	0	1	6629	912	32	4		4	GPR112	23	135431650	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	128609	135431650	19838910	6669	73283											
GPR112	139378	broad.mit.edu	37	chrX	135432563	135432563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttctatctacggaagcatCgacttcgcctactgccacca	6	15	2	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:135432563C>T	uc004ezu.1	+	6	6989	c.6698C>T	c.(6697-6699)TCG>TTG	p.S2233L	GPR112_uc010nsb.1_Missense_Mutation_p.S2028L|GPR112_uc010nsc.1_Missense_Mutation_p.S2000L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2233	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					ACGGAAGCATCGACTTCGCCT	0.463													T	135432563	C	T	135432563	3	4	104	1	0	0	0	0	1	0	0	0	6629	893	31	1	6708	1	GPR112	23	135432563	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	913	135432563	19837997	6670	73284											
GPR112	139378	broad.mit.edu	37	chrX	135443643	135443643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgcaaagctgatgaaacaGcctctaaatacaaagggacc	8	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:135443643G>A	uc004ezu.1	+	12	7465	c.7174G>A	c.(7174-7176)GCC>ACC	p.A2392T	GPR112_uc010nsb.1_Missense_Mutation_p.A2187T|GPR112_uc010nsc.1_Missense_Mutation_p.A2020T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2392	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					TGATGAAACAGCCTCTAAATA	0.378													A	135443643	G	A	135443643	3	1	104	1	0	0	0	0	1	0	0	0	6629	971	34	2	7208	2	GPR112	23	135443643	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	11080	135443643	19826917	6671	73285											
CD40LG	959	broad.mit.edu	37	chrX	135741442	135741442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagttccgccaaaccttgCgggcaacaatccattcactt	6	15	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:135741442C>T	uc004faa.2	+	5	726	c.654C>T	c.(652-654)TGC>TGT	p.C218C	CD40LG_uc010nsd.2_Silent_p.C197C	NM_000074	NP_000065	P29965	CD40L_HUMAN	CD40 ligand	218	Extracellular (Potential).				anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	CCAAACCTTGCGGGCAACAAT	0.498									Immune_Deficiency_with_Hyper-IgM				T	135741442	C	T	135741442	2	4	104	1	0	0	0	0	0	0	0	1	3016	776	27	1		1	CD40LG	23	135741442	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	297799	135741442	19529118	6672	73286											
ARHGEF6	9459	broad.mit.edu	37	chrX	135754267	135754267	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taggacttgtggaatggaatCttttcgagtacctacaaaca	9	7	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:135754267C>A	uc004fab.2	-	20	2509	c.2047G>T	c.(2047-2049)GAT>TAT	p.D683Y	ARHGEF6_uc011mwd.1_Missense_Mutation_p.D556Y|ARHGEF6_uc011mwe.1_Missense_Mutation_p.D529Y	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	683					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					GGAATGGAATCTTTTCGAGTA	0.438													A	135754267	C	A	135754267	3	1	104	1	0	0	0	0	1	0	0	0	910	913	32	5	295	5	ARHGEF6	23	135754267	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	12825	135754267	19516293	6673	73287											
GPR101	83550	broad.mit.edu	37	chrX	136113696	136113696	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccagcactatgttgccgacGaaagaggcggcgaggaagat	15	9	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:136113696G>A	uc011mwh.1	-	1	138	c.138C>T	c.(136-138)TTC>TTT	p.F46F		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	46	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					TGTTGCCGACGAAAGAGGCGG	0.592													A	136113696	G	A	136113696	2	1	104	1	0	0	0	0	0	0	0	1	6622	1049	37	1		1	GPR101	23	136113696	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	359429	136113696	19156864	6674	73288											
MCF2	4168	broad.mit.edu	37	chrX	138689852	138689852	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttaataaataaaggatacttCtttaaaacatccaagctatt	3	6	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:138689852C>A	uc004fau.2	-	12	1782	c.1488G>T	c.(1486-1488)AAG>AAT	p.K496N	MCF2_uc004fav.2_Missense_Mutation_p.K512N|MCF2_uc011mwl.1_Missense_Mutation_p.K473N|MCF2_uc010nsh.1_Missense_Mutation_p.K496N|MCF2_uc011mwm.1_Missense_Mutation_p.K457N|MCF2_uc011mwn.1_Missense_Mutation_p.K641N|MCF2_uc004faw.2_Missense_Mutation_p.K556N|MCF2_uc011mwo.1_Missense_Mutation_p.K572N	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	496	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					AAGGATACTTCTTTAAAACAT	0.378													A	138689852	C	A	138689852	3	1	104	1	0	0	0	0	1	0	0	0	9378	912	32	5	1373	5	MCF2	23	138689852	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	2576156	138689852	16580708	6675	73289											
MAGEC3	139081	broad.mit.edu	37	chrX	140967039	140967039	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcagccggaggggaagtttTctctgaggagggcagtttca	16	7	3	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:140967039T>G	uc011mwp.1	+	3	337	c.337T>G	c.(337-339)TCT>GCT	p.S113A		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	113										skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAAGTTTTCTCTGAGGAG	0.547													G	140967039	T	G	140967039	3	3	104	1	0	0	0	0	1	0	0	0	9182	1783	62	5	347	5	MAGEC3	23	140967039	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2277187	140967039	14303521	6676	73290											
MAGEC1	9947	broad.mit.edu	37	chrX	140996572	140996572	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagatgattcgactgccacaGaaagtgcaagctccagtgtc	10	11	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:140996572G>T	uc004fbt.2	+	4	3668	c.3382G>T	c.(3382-3384)GAA>TAA	p.E1128*	MAGEC1_uc010nsl.1_Nonsense_Mutation_p.E195*	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1128							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GACTGCCACAGAAAGTGCAAG	0.493										HNSCC(15;0.026)			T	140996572	G	T	140996572	4	4	104	1	0	0	0	0	0	1	0	0	9180	943	33	5	3388	5	MAGEC1	23	140996572	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	29533	140996572	14273988	6677	73291											
SLITRK4	139065	broad.mit.edu	37	chrX	142718309	142718309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttccagttgcaattcaaCgacacggccaatgtgttcca	7	12	2	0	rs143575705		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:142718309C>T	uc004fbx.2	-	2	992	c.616G>A	c.(616-618)GTT>ATT	p.V206I	SLITRK4_uc004fby.2_Missense_Mutation_p.V206I	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	206	Extracellular (Potential).		V -> I (in a colorectal cancer sample; somatic mutation).			integral to membrane		p.V206I(1)		upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAATTCAACGACACGGCCA	0.428													T	142718309	C	T	142718309	3	4	104	1	0	0	0	0	1	0	0	0	14745	536	19	1	1901	1	SLITRK4	23	142718309	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1721737	142718309	12552251	6678	73292											
SPANXN2	494119	broad.mit.edu	37	chrX	142795585	142795585	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgggggctaagaccctgttCggtgcctcctgcatctgata	12	11	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:142795585C>T	uc004fbz.2	-	2	847	c.93G>A	c.(91-93)CCG>CCA	p.P31P		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	SPANX-N2 protein	31										ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					AGACCCTGTTCGGTGCCTCCT	0.403													T	142795585	C	T	142795585	2	4	104	1	0	0	0	0	0	0	0	1	14991	871	31	1		1	SPANXN2	23	142795585	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	77276	142795585	12474975	6679	73293											
FMR1NB	158521	broad.mit.edu	37	chrX	147106456	147106456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagaaacaaagaaggaagcGaaagaggaagtctgaaatgt	13	3	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:147106456G>A	uc004fcm.2	+	5	778	c.704G>A	c.(703-705)CGA>CAA	p.R235Q		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	235	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAGGAAGCGAAAGAGGAAG	0.418													A	147106456	G	A	147106456	3	1	104	1	0	0	0	0	1	0	0	0	5961	1058	37	1	722	1	FMR1NB	23	147106456	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	4310871	147106456	8164104	6680	73294											
AFF2	2334	broad.mit.edu	37	chrX	147743734	147743734	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacctgagtggtcacgtgaTagtcataaccctagcactgt	9	10	2	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:147743734T>C	uc004fcp.2	+	3	965	c.486T>C	c.(484-486)GAT>GAC	p.D162D	AFF2_uc004fco.2_Silent_p.D158D|AFF2_uc004fcq.2_Silent_p.D158D|AFF2_uc004fcr.2_Silent_p.D158D|AFF2_uc011mxb.1_Silent_p.D162D|AFF2_uc004fcs.2_Silent_p.D158D	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	162					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCACGTGATAGTCATAACC	0.468													C	147743734	T	C	147743734	2	2	104	1	0	0	0	0	0	0	0	1	357	1403	49	3		3	AFF2	23	147743734	Silent	SNP	T	TCGA-BR-8680-01A-11D-2394-08	637278	147743734	7526826	6681	73295											
AFF2	2334	broad.mit.edu	37	chrX	148038020	148038020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactctctagagtacctggCcacagctcactccatgcagc	7	15	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:148038020C>T	uc004fcp.2	+	11	2924	c.2445C>T	c.(2443-2445)GGC>GGT	p.G815G	AFF2_uc004fcq.2_Silent_p.G805G|AFF2_uc004fcr.2_Silent_p.G776G|AFF2_uc011mxb.1_Silent_p.G780G|AFF2_uc004fcs.2_Silent_p.G782G|AFF2_uc011mxc.1_Silent_p.G456G	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	815					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTACCTGGCCACAGCTCAC	0.527													T	148038020	C	T	148038020	2	4	104	1	0	0	0	0	0	0	0	1	357	726	26	2		2	AFF2	23	148038020	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	294286	148038020	7232540	6682	73296											
AFF2	2334	broad.mit.edu	37	chrX	148059926	148059926	+	Frame_Shift_Del	DEL	T	T	-													cactcctctatttgagaatgTttaagctgaagaaggaccat							TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:148059926delT	uc004fcp.2	+	18	3990	c.3511delT	c.(3511-3513)TTTfs	p.F1171fs	AFF2_uc004fcq.2_Frame_Shift_Del_p.F1161fs|AFF2_uc004fcr.2_Frame_Shift_Del_p.F1132fs|AFF2_uc011mxb.1_Frame_Shift_Del_p.F1136fs|AFF2_uc004fcs.2_Frame_Shift_Del_p.F1136fs|AFF2_uc011mxc.1_Frame_Shift_Del_p.F812fs	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1171					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGAGAATGTTTAAGCTGAA	0.348													-	148059926	T	-	148059926	7	5	104	1	0	1	0	1	0	0	0	0	357	1725	60	0	3636	0	AFF2	23	148059926	Frame_Shift_Del	DEL	T	TCGA-BR-8680-01A-11D-2394-08	21906	148059926	7210634	6683	73297											
MAGEA11	4110	broad.mit.edu	37	chrX	148797493	148797493	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catcatgcctcttgagcaaaGaagtcagcactgcaagcctg	9	12	3	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:148797493G>A	uc004fdq.2	+	5	449	c.347G>A	c.(346-348)AGA>AAA	p.R116K	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.R87K	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	116						cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTTGAGCAAAGAAGTCAGCAC	0.602													A	148797493	G	A	148797493	3	1	104	1	0	0	0	0	1	0	0	0	9165	942	33	4	374	4	MAGEA11	23	148797493	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	737567	148797493	6473067	6684	73298											
PASD1	139135	broad.mit.edu	37	chrX	150840971	150840971	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggaatgagagggtgcagaTatgcctgcaaaacccacgtg	15	8	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:150840971T>C	uc004fev.3	+	14	2086	c.1754T>C	c.(1753-1755)ATA>ACA	p.I585T		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	585						nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGTGCAGATATGCCTGCAA	0.333													C	150840971	T	C	150840971	3	2	104	1	0	0	0	0	1	0	0	0	11471	1406	49	3	1804	3	PASD1	23	150840971	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	2043478	150840971	4429589	6685	73299											
FATE1	89885	broad.mit.edu	37	chrX	150891227	150891227	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggctgtggatgaaccAgtgatcgccccagcgcggcc	14	14	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:150891227A>C	uc004fex.2	+	5	632	c.548A>C	c.(547-549)CAG>CCG	p.Q183P		NM_033085	NP_149076	Q969F0	FATE1_HUMAN	fetal and adult testis expressed transcript	183						endoplasmic reticulum|integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					TGGATGAACCAGTGATCGCCC	0.642													C	150891227	A	C	150891227	3	2	104	1	0	0	0	0	1	0	0	0	5693	188	7	5	566	5	FATE1	23	150891227	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	50256	150891227	4379333	6686	73300											
GABRQ	55879	broad.mit.edu	37	chrX	151820165	151820165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacagtcgaggacctcggCgccagcctaggcgacacagg	13	14	1	0			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:151820165C>T	uc004ffp.1	+	8	1098	c.1078C>T	c.(1078-1080)CGC>TGC	p.R360C		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	360						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACCTCGGCGCCAGCCTAG	0.507													T	151820165	C	T	151820165	3	4	104	1	0	0	0	0	1	0	0	0	6175	768	27	1	1108	1	GABRQ	23	151820165	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	928938	151820165	3450395	6687	73301											
ATP2B3	492	broad.mit.edu	37	chrX	152815144	152815144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctgacccctaagatcctcGacctcctggtccatgccatc	6	19	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:152815144G>A	uc004fht.1	+	9	1654	c.1528G>A	c.(1528-1530)GAC>AAC	p.D510N	ATP2B3_uc004fhs.1_Missense_Mutation_p.D510N	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	510	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TAAGATCCTCGACCTCCTGGT	0.433													A	152815144	G	A	152815144	3	1	104	1	0	0	0	0	1	0	0	0	1141	1058	37	1	1562	1	ATP2B3	23	152815144	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	994979	152815144	2455416	6688	73302											
ABCD1	215	broad.mit.edu	37	chrX	153001668	153001668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaacctcctgacagcggCtgcagatgccattgagcgga	12	14	0	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:153001668C>T	uc004fif.2	+	3	1583	c.1184C>T	c.(1183-1185)GCT>GTT	p.A395V	ABCD1_uc004fig.2_5'Flank	NM_000033	NP_000024	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member	395					fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGACAGCGGCTGCAGATGCC	0.602													T	153001668	C	T	153001668	3	4	104	1	0	0	0	0	1	0	0	0	60	797	28	2	1194	2	ABCD1	23	153001668	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	186524	153001668	2268892	6689	73303											
SRPK3	26576	broad.mit.edu	37	chrX	153046776	153046776	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctccgacgacgaggaacaGgaagaccccaaagactactg	12	12	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:153046776G>T	uc004fil.2	+	2	197	c.165G>T	c.(163-165)CAG>CAT	p.Q55H	SRPK3_uc004fik.2_Missense_Mutation_p.Q121H|SRPK3_uc010nul.2_Missense_Mutation_p.Q13H|SRPK3_uc004fin.2_Missense_Mutation_p.Q55H|SRPK3_uc004fim.2_Missense_Mutation_p.Q55H	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	serine arginine rich protein-specific kinase 3	55					cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			pancreas(2)|lung(1)	3	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACGAGGAACAGGAAGACCCCA	0.672													T	153046776	G	T	153046776	3	4	104	1	0	0	0	0	1	0	0	0	15160	991	35	5	171	5	SRPK3	23	153046776	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	45108	153046776	2223784	6690	73304											
SRPK3	26576	broad.mit.edu	37	chrX	153049822	153049822	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gataagatcaagatcaagatCgcagacctgggcaacgcctg	11	10	2	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:153049822C>T	uc004fil.2	+	11	1253	c.1221C>T	c.(1219-1221)ATC>ATT	p.I407I	SRPK3_uc004fik.2_Silent_p.I473I|SRPK3_uc010nul.2_Silent_p.I331I|SRPK3_uc004fin.2_Silent_p.I406I|SRPK3_uc004fim.2_Silent_p.I373I	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	serine arginine rich protein-specific kinase 3	407	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			pancreas(2)|lung(1)	3	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGATCAAGATCGCAGACCTGG	0.612													T	153049822	C	T	153049822	2	4	104	1	0	0	0	0	0	0	0	1	15160	874	31	1		1	SRPK3	23	153049822	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	3046	153049822	2220738	6691	73305											
L1CAM	3897	broad.mit.edu	37	chrX	153133495	153133495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actctccaccacatccagttCggtactggccacgcagctgt	8	16	1	0	rs137940405		TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:153133495C>T	uc004fjb.2	-	14	1894	c.1786G>A	c.(1786-1788)GAA>AAA	p.E596K	L1CAM_uc004fjc.2_Missense_Mutation_p.E596K|L1CAM_uc010nuo.2_Missense_Mutation_p.E591K	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	596	Ig-like C2-type 6.|Extracellular (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACATCCAGTTCGGTACTGGCC	0.622													T	153133495	C	T	153133495	3	4	104	1	0	0	0	0	1	0	0	0	8588	893	31	1	2047	1	L1CAM	23	153133495	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	83673	153133495	2137065	6692	73306											
AVPR2	554	broad.mit.edu	37	chrX	153171980	153171980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctccacctccacaggggCgccctttgtgctactcatgt	8	16	1	0	rs138974323	byFrequency	TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:153171980C>T	uc004fjh.3	+	3	985	c.914C>T	c.(913-915)GCG>GTG	p.A305V	AVPR2_uc004fjg.3_Missense_Mutation_p.A94V|AVPR2_uc004fji.2_3'UTR	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	305	Extracellular (Potential).				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	TCCACAGGGGCGCCCTTTGTG	0.627													T	153171980	C	T	153171980	3	4	104	1	0	0	0	0	1	0	0	0	1233	768	27	1	944	1	AVPR2	23	153171980	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	38485	153171980	2098580	6693	73307											
HCFC1	3054	broad.mit.edu	37	chrX	153228874	153228874	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taattccaggatatataagtCattcaggtacctgacgagga	9	7	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:153228874C>A	uc004fjp.2	-	4	1042	c.514G>T	c.(514-516)GAC>TAC	p.D172Y		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	172	Kelch 3.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATATATAAGTCATTCAGGTAC	0.557													A	153228874	C	A	153228874	3	1	104	1	0	0	0	0	1	0	0	0	6991	826	29	5	5685	5	HCFC1	23	153228874	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	56894	153228874	2041686	6694	73308											
OPN1LW	5956	broad.mit.edu	37	chrX	153416361	153416361	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcattgtgaaccaggtcTctggctacttcgtgctgggc	12	11	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:153416361T>G	uc004fjz.3	+	2	379	c.346T>G	c.(346-348)TCT>GCT	p.S116A		NM_020061	NP_064445	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	116	Extracellular.				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAACCAGGTCTCTGGCTACTT	0.617													G	153416361	T	G	153416361	3	3	104	1	0	0	0	0	1	0	0	0	10877	1551	54	5	352	5	OPN1LW	23	153416361	Missense_Mutation	SNP	T	TCGA-BR-8680-01A-11D-2394-08	187487	153416361	1854199	6695	73309											
TKTL1	8277	broad.mit.edu	37	chrX	153549110	153549110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctgtgctgcaggtgagcGtggctctgggctgtgcctcc	15	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:153549110G>A	uc004fkg.2	+	8	1222	c.1036G>A	c.(1036-1038)GTG>ATG	p.V346M	TKTL1_uc011mzl.1_Missense_Mutation_p.V340M|TKTL1_uc011mzm.1_Missense_Mutation_p.V142M|TKTL1_uc004fkh.2_Missense_Mutation_p.V290M	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	346					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGGTGAGCGTGGCTCTGGG	0.567													A	153549110	G	A	153549110	3	1	104	1	0	0	0	0	1	0	0	0	15932	1145	40	1	1066	1	TKTL1	23	153549110	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	132749	153549110	1721450	6696	73310											
PLXNA3	55558	broad.mit.edu	37	chrX	153693557	153693557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtgcagtgccagaacgCctcggtgaggtcccacccgc	13	15	0	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:153693557C>T	uc004flm.2	+	11	2413	c.2240C>T	c.(2239-2241)GCC>GTC	p.A747V		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	747	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCCAGAACGCCTCGGTGAGG	0.652													T	153693557	C	T	153693557	3	4	104	1	0	0	0	0	1	0	0	0	12121	739	26	2	2278	2	PLXNA3	23	153693557	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	144447	153693557	1577003	6697	73311											
GAB3	139716	broad.mit.edu	37	chrX	153944425	153944425	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtagtcttgacaatgaacacGaaattattctgaaattcctt	6	7	2	3			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:153944425G>A	uc004fmj.1	-	2	300	c.252C>T	c.(250-252)TTC>TTT	p.F84F	GAB3_uc004fmk.1_Silent_p.F84F|GAB3_uc010nve.1_Silent_p.F84F|GAB3_uc004fml.1_5'UTR	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN	Gab3 protein isoform 2	84	PH.									ovary(1)	1	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAATGAACACGAAATTATTCT	0.512													A	153944425	G	A	153944425	2	1	104	1	0	0	0	0	0	0	0	1	6150	1049	37	1		1	GAB3	23	153944425	Silent	SNP	G	TCGA-BR-8680-01A-11D-2394-08	250868	153944425	1326135	6698	73312											
DKC1	1736	broad.mit.edu	37	chrX	153993212	153993212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacataagaagaaaaaggagCggaagtcattgccagaagaa	11	5	1	4			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:153993212C>T	uc004fmm.2	+	2	265	c.55C>T	c.(55-57)CGG>TGG	p.R19W	DKC1_uc010nvf.2_Missense_Mutation_p.R19W	NM_001363	NP_001354	O60832	DKC1_HUMAN	dyskerin isoform 1	19	Nucleolar localization.				cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity				0	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAAAAAGGAGCGGAAGTCATT	0.318									Congenital_Dyskeratosis				T	153993212	C	T	153993212	3	4	104	1	0	0	0	0	1	0	0	0	4542	759	27	1	61	1	DKC1	23	153993212	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	48787	153993212	1277348	6699	73313											
DKC1	1736	broad.mit.edu	37	chrX	153995639	153995639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagcaaaatgattgaatacGatcctgaaagaagattaggt	10	4	0	6			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:153995639G>A	uc004fmm.2	+	7	832	c.622G>A	c.(622-624)GAT>AAT	p.D208N	DKC1_uc010nvf.2_Missense_Mutation_p.D208N|SNORA36A_uc004fmn.2_5'Flank	NM_001363	NP_001354	O60832	DKC1_HUMAN	dyskerin isoform 1	208					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity				0	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GATTGAATACGATCCTGAAAG	0.443									Congenital_Dyskeratosis				A	153995639	G	A	153995639	3	1	104	1	0	0	0	0	1	0	0	0	4542	1058	37	1	648	1	DKC1	23	153995639	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	2427	153995639	1274921	6700	73314											
F8	2157	broad.mit.edu	37	chrX	154185408	154185408	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccatttatatttgaatatttCtcctggcagaattggaaaat	6	6	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:154185408C>A	uc004fmt.2	-	11	1747	c.1576G>T	c.(1576-1578)GAA>TAA	p.E526*		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	526	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTGAATATTTCTCCTGGCAGA	0.378													A	154185408	C	A	154185408	4	1	104	1	0	0	0	0	0	1	0	0	5350	922	32	5	5571	5	F8	23	154185408	Nonsense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	189769	154185408	1085152	6701	73315											
F8	2157	broad.mit.edu	37	chrX	154194944	154194944	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggacagctgtctactttgAcataagcttccatgccatct	7	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrX:154194944A>G	uc004fmt.2	-	8	1199	c.1028T>C	c.(1027-1029)GTC>GCC	p.V343A		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	343	Plastocyanin-like 2.|F5/8 type A 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTCTACTTTGACATAAGCTTC	0.308													G	154194944	A	G	154194944	3	3	104	1	0	0	0	0	1	0	0	0	5350	275	10	3	6131	3	F8	23	154194944	Missense_Mutation	SNP	A	TCGA-BR-8680-01A-11D-2394-08	9536	154194944	1075616	6702	73316											
ZFY	7544	broad.mit.edu	37	chrY	2848017	2848017	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acataatgagacaccataaaGaagttggtctgccctaacag	8	9	1	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrY:2848017G>T	uc004fqj.2	+	8	2710	c.2389G>T	c.(2389-2391)GAA>TAA	p.E797*	ZFY_uc011nan.1_Nonsense_Mutation_p.E606*|ZFY_uc010nwe.2_Nonsense_Mutation_p.E720*	NM_003411	NP_003402	P08048	ZFY_HUMAN	zinc finger protein, Y-linked isoform 1	797					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ACACCATAAAGAAGTTGGTCT	0.403													T	2848017	G	T	2848017	4	4	104	1	0	0	0	0	0	1	0	0	17659	943	33	5	2415	5	ZFY	24	2848017	Nonsense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08		2848017	56525549	6703	73317											
TGIF2LY	90655	broad.mit.edu	37	chrY	3447605	3447605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttatcaatgctcgcagacGcattctcccggatatgcttc	8	12	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrY:3447605G>A	uc004fqk.2	+	2	384	c.320G>A	c.(319-321)CGC>CAC	p.R107H		NM_139214	NP_631960	Q8IUE0	TF2LY_HUMAN	TGFB-induced factor homeobox 2-like, Y-linked	107	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GCTCGCAGACGCATTCTCCCG	0.498													A	3447605	G	A	3447605	3	1	104	1	0	0	0	0	1	0	0	0	15825	1087	38	1	322	1	TGIF2LY	24	3447605	Missense_Mutation	SNP	G	TCGA-BR-8680-01A-11D-2394-08	599588	3447605	55925961	6704	73318											
USP9Y	8287	broad.mit.edu	37	chrY	14898521	14898521	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtcctctgactttcaagttCacttcttgaaaagtggtggc	10	9	4	2			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrY:14898521C>A	uc004fst.1	+	24	4294	c.3349C>A	c.(3349-3351)CAC>AAC	p.H1117N	USP9Y_uc010nwu.1_RNA	NM_004654	NP_004645	O00507	USP9Y_HUMAN	ubiquitin specific protease 9, Y-linked	1117					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						CTTTCAAGTTCACTTCTTGAA	0.373													A	14898521	C	A	14898521	3	1	104	1	0	0	0	0	1	0	0	0	17088	826	29	5	3435	5	USP9Y	24	14898521	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	11450916	14898521	44475045	6705	73319											
DDX3Y	8653	broad.mit.edu	37	chrY	15026499	15026499	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgggaaaactgcagcatttCttttacccatactgagtcag	8	10	2	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrY:15026499C>A	uc004fsu.1	+	9	1006	c.697C>A	c.(697-699)CTT>ATT	p.L233I	DDX3Y_uc010nwv.1_Missense_Mutation_p.L233I|DDX3Y_uc011naq.1_Missense_Mutation_p.L233I|DDX3Y_uc004fsv.2_Missense_Mutation_p.L233I|DDX3Y_uc010nww.1_Missense_Mutation_p.L49I|DDX3Y_uc011nar.1_Missense_Mutation_p.L230I	NM_001122665	NP_001116137	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 3,	233	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding				0						TGCAGCATTTCTTTTACCCAT	0.348													A	15026499	C	A	15026499	3	1	104	1	0	0	0	0	1	0	0	0	4359	913	32	5	727	5	DDX3Y	24	15026499	Missense_Mutation	SNP	C	TCGA-BR-8680-01A-11D-2394-08	127978	15026499	44347067	6706	73320											
NLGN4Y	22829	broad.mit.edu	37	chrY	16941710	16941710	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggatattggcagacaaggtCggctgcaacatgctggacac	13	10	0	1			TCGA-BR-8680-01A-11D-2394-08	TCGA-BR-8680-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97474881-be38-42b2-882b-84bbe90efc52	603fc7a3-b983-4a39-8646-d52f55141734	g.chrY:16941710C>T	uc004ftg.2	+	5	1164	c.912C>T	c.(910-912)GTC>GTT	p.V304V	NLGN4Y_uc004fte.2_Silent_p.V136V|NLGN4Y_uc011nas.1_Silent_p.V324V|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Silent_p.V304V	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked isoform 1	304	Extracellular (Potential).				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity				0						CAGACAAGGTCGGCTGCAACA	0.557													T	16941710	C	T	16941710	2	4	104	1	0	0	0	0	0	0	0	1	10465	871	31	1		1	NLGN4Y	24	16941710	Silent	SNP	C	TCGA-BR-8680-01A-11D-2394-08	1915211	16941710	42431856	6707	73321											
CELA2A	63036	broad.mit.edu	37	chr1	15789290	15789290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctacgttgcggagtccggctCgctggcagtcagtgtctcta	13	12	2	0	rs146502483		TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr1:15789290C>T	uc001awk.2	+	4	316	c.290C>T	c.(289-291)TCG>TTG	p.S97L		NM_033440	NP_254275	P08217	CEL2A_HUMAN	elastase 2A preproprotein	97	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						GAGTCCGGCTCGCTGGCAGTC	0.612													T	15789290	C	T	15789290	3	4	105	1	0	0	0	0	1	0	0	0	3211	893	31	1	304	1	CELA2A	1	15789290	Missense_Mutation	SNP	C	TCGA-BR-8682-01A-11D-2394-08		15789290	233461331	1	73322											
C1orf123	54987	broad.mit.edu	37	chr1	53684566	53684566	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggatgtactgccacttgtcCgaaatctcaccacagttgcc	8	14	1	0	rs148279601		TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr1:53684566C>T	uc001cvd.2	-	3	162	c.120G>A	c.(118-120)TCG>TCA	p.S40S	C1orf123_uc001cvc.2_5'Flank|C1orf123_uc001cve.2_Intron	NM_017887	NP_060357	Q9NWV4	CA123_HUMAN	hypothetical protein LOC54987	40										pancreas(2)	2						GCCACTTGTCCGAAATCTCAC	0.493													T	53684566	C	T	53684566	2	4	105	1	0	0	0	0	0	0	0	1	1991	639	23	1		1	C1orf123	1	53684566	Silent	SNP	C	TCGA-BR-8682-01A-11D-2394-08	37895276	53684566	195566055	2	73323											
C8B	732	broad.mit.edu	37	chr1	57399077	57399077	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	actaacttccttctggaactCctccagtgcctgcttcatgt	6	14	2	0			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr1:57399077C>A	uc001cyp.2	-	10	1550	c.1483G>T	c.(1483-1485)GAG>TAG	p.E495*	C8B_uc010oon.1_Nonsense_Mutation_p.E433*|C8B_uc010ooo.1_Nonsense_Mutation_p.E443*	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	495	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						TTCTGGAACTCCTCCAGTGCC	0.527													A	57399077	C	A	57399077	4	1	105	1	0	0	0	0	0	1	0	0	2417	864	30	5	304	5	C8B	1	57399077	Nonsense_Mutation	SNP	C	TCGA-BR-8682-01A-11D-2394-08	3714511	57399077	191851544	3	73324											
DENND2D	79961	broad.mit.edu	37	chr1	111737247	111737247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctctccagcacggcagaGgcaaagatctgaagtatctg	10	10	3	3			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr1:111737247G>A	uc001eak.1	-	7	947	c.747C>T	c.(745-747)GCC>GCT	p.A249A	DENND2D_uc001eal.1_Silent_p.A246A	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	249	DENN.									ovary(1)	1		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GCACGGCAGAGGCAAAGATCT	0.527													A	111737247	G	A	111737247	2	1	105	1	0	0	0	0	0	0	0	1	4431	987	35	4		4	DENND2D	1	111737247	Silent	SNP	G	TCGA-BR-8682-01A-11D-2394-08	54338170	111737247	137513374	4	73325											
TFB2M	64216	broad.mit.edu	37	chr1	246729331	246729331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccacagtggttcctcgccGgcaaatgctttcgcgtcgcc	11	16	0	0			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr1:246729331G>A	uc001ibn.2	-	1	235	c.110C>T	c.(109-111)CCG>CTG	p.P37L	CNST_uc001ibo.3_5'Flank|CNST_uc001ibp.2_5'Flank|TFB2M_uc010pys.1_RNA	NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	37					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			ovary(1)	1	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			GTTCCTCGCCGGCAAATGCTT	0.627													A	246729331	G	A	246729331	3	1	105	1	0	0	0	0	1	0	0	0	15791	1116	39	1	1112	1	TFB2M	1	246729331	Missense_Mutation	SNP	G	TCGA-BR-8682-01A-11D-2394-08	134992084	246729331	2521290	5	73326											
OR2T4	127074	broad.mit.edu	37	chr1	248524923	248524923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccagccacactggatggtCggatttcatcctgatgggac	13	11	1	1			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr1:248524923C>T	uc001ieh.1	+	1	41	c.41C>T	c.(40-42)TCG>TTG	p.S14L		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	14	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACTGGATGGTCGGATTTCATC	0.488													T	248524923	C	T	248524923	3	4	105	1	0	0	0	0	1	0	0	0	11027	893	31	1	43	1	OR2T4	1	248524923	Missense_Mutation	SNP	C	TCGA-BR-8682-01A-11D-2394-08	1795592	248524923	725698	6	73327											
NLRC4	58484	broad.mit.edu	37	chr2	32475567	32475567	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagacgtcaataaactgcTgagtcttcgtcctgctgtgt	10	9	2	2			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr2:32475567T>C	uc002roi.2	-	4	1612	c.1366A>G	c.(1366-1368)AGC>GGC	p.S456G	NLRC4_uc002roj.1_Missense_Mutation_p.S456G|NLRC4_uc010ezt.1_Intron	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	456	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AATAAACTGCTGAGTCTTCGT	0.438													C	32475567	T	C	32475567	3	2	105	1	0	0	0	0	1	0	0	0	10469	1580	55	3	1732	3	NLRC4	2	32475567	Missense_Mutation	SNP	T	TCGA-BR-8682-01A-11D-2394-08		32475567	210723806	7	73328											
NRXN1	9378	broad.mit.edu	37	chr2	50733718	50733718	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtgtgccactcgttatcattGaggttatagccagcaaaaag	10	8	1	1			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr2:50733718G>C	uc010fbq.2	-	13	4009	c.2532C>G	c.(2530-2532)CTC>CTG	p.L844L	NRXN1_uc002rxb.3_Silent_p.L476L|NRXN1_uc002rxe.3_Silent_p.L804L|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGTTATCATTGAGGTTATAGC	0.448													C	50733718	G	C	50733718	2	2	105	1	0	0	0	0	0	0	0	1	10665	1277	45	5		5	NRXN1	2	50733718	Silent	SNP	G	TCGA-BR-8682-01A-11D-2394-08	18258151	50733718	192465655	8	73329											
BMP10	27302	broad.mit.edu	37	chr2	69093087	69093087	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacagtagtttcctttggcGttccttctgattcgggcagt	10	9	1	1	rs113361577		TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr2:69093087G>A	uc002sez.1	-	2	1110	c.951C>T	c.(949-951)AAC>AAT	p.N317N		NM_014482	NP_055297	O95393	BMP10_HUMAN	bone morphogenetic protein 10 preproprotein	317					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			ovary(2)	2						TTCCTTTGGCGTTCCTTCTGA	0.517													A	69093087	G	A	69093087	2	1	105	1	0	0	0	0	0	0	0	1	1457	1136	40	1		1	BMP10	2	69093087	Silent	SNP	G	TCGA-BR-8682-01A-11D-2394-08	18359369	69093087	174106286	9	73330											
SCTR	6344	broad.mit.edu	37	chr2	120236430	120236430	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaatctcgggcattccacCtccaccatccggcccggcac	9	18	1	0			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr2:120236430C>T	uc002tma.2	-	3	484	c.258G>A	c.(256-258)GAG>GAA	p.E86E	SCTR_uc002tlz.2_5'UTR	NM_002980	NP_002971	P47872	SCTR_HUMAN	secretin receptor precursor	86	Extracellular (Potential).				digestion|excretion	integral to plasma membrane	secretin receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3					Secretin(DB00021)	GGCATTCCACCTCCACCATCC	0.612													T	120236430	C	T	120236430	2	4	105	1	0	0	0	0	0	0	0	1	13943	680	24	4		4	SCTR	2	120236430	Silent	SNP	C	TCGA-BR-8682-01A-11D-2394-08	51143343	120236430	122962943	10	73331											
CASP10	843	broad.mit.edu	37	chr2	202050848	202050848	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagggtttctctgtttagGtgaggacgggtctgtggtgg	17	5	2	1			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr2:202050848G>A	uc002uxl.1	+	2	765	c.347_splice	c.e2+1	p.R116_splice	CASP10_uc002uxi.1_Splice_Site_p.R116_splice|CASP10_uc010zhn.1_Splice_Site|CASP10_uc002uxj.1_Splice_Site_p.R116_splice|CASP10_uc002uxk.1_Splice_Site_p.R116_splice|CASP10_uc010fta.1_Splice_Site_p.R116_splice|CASP10_uc002uxm.1_Splice_Site_p.R116_splice|CASP10_uc010ftb.1_Splice_Site	NM_032974	NP_116756	Q92851	CASPA_HUMAN	caspase 10 isoform b preproprotein						apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			skin(3)|ovary(1)|pancreas(1)|breast(1)	6						CTCTGTTTAGGTGAGGACGGG	0.498													A	202050848	G	A	202050848	5	1	105	1	0	0	0	0	0	0	1	0	2669	1275	44	4	350	4	CASP10	2	202050848	Splice_Site	SNP	G	TCGA-BR-8682-01A-11D-2394-08	81814418	202050848	41148525	11	73332											
WNT7A	7476	broad.mit.edu	37	chr3	13916592	13916592	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgggccggctctggcagatCgcccgctgtctgggagccag	16	14	2	1			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr3:13916592C>T	uc003bye.1	-	2	455	c.150G>A	c.(148-150)GCG>GCA	p.A50A		NM_004625	NP_004616	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family,	50					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			ovary(2)|breast(1)	3						TCTGGCAGATCGCCCGCTGTC	0.592													T	13916592	C	T	13916592	2	4	105	1	0	0	0	0	0	0	0	1	17391	871	31	1		1	WNT7A	3	13916592	Silent	SNP	C	TCGA-BR-8682-01A-11D-2394-08		13916592	184105838	12	73333											
CELSR3	1951	broad.mit.edu	37	chr3	48664446	48664446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttggagtcttcttgacCattggctgttgcatcttcca	10	11	3	1			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr3:48664446C>T	uc003cuf.1	-	53	12094	c.12094G>A	c.(12094-12096)GGT>AGT	p.G4032S	SLC26A6_uc003cug.2_Missense_Mutation_p.G625S|SLC26A6_uc003cuh.2_Missense_Mutation_p.G646S|SLC26A6_uc010hke.2_Missense_Mutation_p.G478S|SLC26A6_uc003cuk.2_Missense_Mutation_p.G538S|SLC26A6_uc003cui.2_Missense_Mutation_p.G645S|SLC26A6_uc003cuj.2_Missense_Mutation_p.G627S|SLC26A6_uc011bbp.1_Missense_Mutation_p.G610S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	Error:Variant_position_missing_in_Q9NYQ7_after_alignment					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCTTCTTGACCATTGGCTGTT	0.607													T	48664446	C	T	48664446	3	4	105	1	0	0	0	0	1	0	0	0	3223	594	21	4		4	CELSR3	3	48664446	Missense_Mutation	SNP	C	TCGA-BR-8682-01A-11D-2394-08	34747854	48664446	149357984	13	73334											
ROBO1	6091	broad.mit.edu	37	chr3	78763664	78763664	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaaggtatgatcatctcGgatttcatatctaatgacat	6	7	5	2			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr3:78763664G>A	uc003dqe.2	-	8	1136	c.928C>T	c.(928-930)CGA>TGA	p.R310*	ROBO1_uc003dqb.2_Nonsense_Mutation_p.R271*|ROBO1_uc003dqc.2_Nonsense_Mutation_p.R271*|ROBO1_uc003dqd.2_Nonsense_Mutation_p.R271*|ROBO1_uc003dqf.1_5'UTR	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	310	Extracellular (Potential).|Ig-like C2-type 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGATCATCTCGGATTTCATAT	0.378													A	78763664	G	A	78763664	4	1	105	1	0	0	0	0	0	1	0	0	13513	1124	39	1	4136	1	ROBO1	3	78763664	Nonsense_Mutation	SNP	G	TCGA-BR-8682-01A-11D-2394-08	30099218	78763664	119258766	14	73335											
PLCXD2	257068	broad.mit.edu	37	chr3	111432963	111432963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgggggcctcaagaacaCgctggttcataggtaagaat	14	7	2	2	rs139070081	byFrequency	TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr3:111432963C>T	uc003dya.2	+	3	1440	c.854C>T	c.(853-855)ACG>ATG	p.T285M	PLCXD2_uc003dyb.2_Missense_Mutation_p.T285M|PLCXD2_uc003dxz.2_Missense_Mutation_p.T285M	NM_001134478	NP_001127950	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X	285					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(1)	1						CTCAAGAACACGCTGGTTCAT	0.493													T	111432963	C	T	111432963	3	4	105	1	0	0	0	0	1	0	0	0	12042	536	19	1	864	1	PLCXD2	3	111432963	Missense_Mutation	SNP	C	TCGA-BR-8682-01A-11D-2394-08	32669299	111432963	86589467	15	73336											
PLCH1	23007	broad.mit.edu	37	chr3	155198891	155198891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccccctctgggatgccccGgccttcaaggccaccccctt	9	20	2	0			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr3:155198891G>A	uc011bok.1	-	23	5225	c.4948C>T	c.(4948-4950)CGG>TGG	p.R1650W	PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.R1612W	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	1650					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGGATGCCCCGGCCTTCAAGG	0.557													A	155198891	G	A	155198891	3	1	105	1	0	0	0	0	1	0	0	0	12037	1115	39	1	137	1	PLCH1	3	155198891	Missense_Mutation	SNP	G	TCGA-BR-8682-01A-11D-2394-08	43765928	155198891	42823539	16	73337											
SEL1L3	23231	broad.mit.edu	37	chr4	25780725	25780725	+	Frame_Shift_Del	DEL	A	A	-													ctttctcaggatctctagggAatgtctccaggttgcctgtg							TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr4:25780724_25780724GA>G	uc003gru.4	-	15	2711	c.2559_2559TC>C	c.(2557-2559)ttcfs	p.F853fs	SEL1L3_uc003grv.3_Frame_Shift_Del_p.F260fs	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	853						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GATCTCTAGGGAATGTCTCCA	0.443													-	25780725	A	-	25780725	7	5	105	1	0	1	0	1	0	0	0	0	14012	246	9	0	876	0	SEL1L3	4	25780725	Frame_Shift_Del	DEL	A	TCGA-BR-8682-01A-11D-2394-08		25780725	165373551	17	73338											
KLF3	51274	broad.mit.edu	37	chr4	38690545	38690545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggcagctgccctctcgCggcatggaatacggagcccg	14	13	1	1			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr4:38690545C>T	uc003gth.3	+	3	729	c.397C>T	c.(397-399)CGG>TGG	p.R133W	KLF3_uc003gtg.2_Missense_Mutation_p.R133W	NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	133	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						TGCCCTCTCGCGGCATGGAAT	0.617													T	38690545	C	T	38690545	3	4	105	1	0	0	0	0	1	0	0	0	8347	759	27	1	403	1	KLF3	4	38690545	Missense_Mutation	SNP	C	TCGA-BR-8682-01A-11D-2394-08	12909820	38690545	152463731	18	73339											
TMEM150C	441027	broad.mit.edu	37	chr4	83406787	83406787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaactccacggcaaaggtGccaaaataagacaggaagca	11	10	0	1			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr4:83406787G>A	uc003hmy.1	-	8	705	c.627C>T	c.(625-627)GGC>GGT	p.G209G	TMEM150C_uc011ccj.1_Silent_p.G239G	NM_001080506	NP_001073975	B9EJG8	T150C_HUMAN	transmembrane protein 150C	209	Helical; (Potential).					integral to membrane				ovary(1)	1						CGGCAAAGGTGCCAAAATAAG	0.512													A	83406787	G	A	83406787	2	1	105	1	0	0	0	0	0	0	0	1	16066	1306	46	2		2	TMEM150C	4	83406787	Silent	SNP	G	TCGA-BR-8682-01A-11D-2394-08	44716242	83406787	107747489	19	73340											
IRF1	3659	broad.mit.edu	37	chr5	131822699	131822699	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccggtacactcgcacagctGagctgcccttgttcctgctc	9	16	0	1			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr5:131822699G>T	uc003kxa.2	-	4	545	c.311C>A	c.(310-312)TCA>TAA	p.S104*	IRF1_uc003kxd.2_RNA|IRF1_uc003kxb.2_Nonsense_Mutation_p.S104*|IRF1_uc010jdt.1_Nonsense_Mutation_p.S104*	NM_002198	NP_002189	P10914	IRF1_HUMAN	interferon regulatory factor 1	104	IRF tryptophan pentad repeat.				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm					0		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TCGCACAGCTGAGCTGCCCTT	0.567													T	131822699	G	T	131822699	4	4	105	1	0	0	0	0	0	1	0	0	7827	1294	45	5	694	5	IRF1	5	131822699	Nonsense_Mutation	SNP	G	TCGA-BR-8682-01A-11D-2394-08		131822699	49092561	20	73341											
FSTL4	23105	broad.mit.edu	37	chr5	132545910	132545910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtcgggacttgtgcacGtccccccagctcaggaccca	11	16	1	0			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr5:132545910G>A	uc003kyn.1	-	14	1907	c.1689C>T	c.(1687-1689)GAC>GAT	p.D563D	FSTL4_uc003kym.1_Silent_p.D212D	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4 precursor	563						extracellular region	calcium ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACTTGTGCACGTCCCCCCAGC	0.498													A	132545910	G	A	132545910	2	1	105	1	0	0	0	0	0	0	0	1	6079	1136	40	1		1	FSTL4	5	132545910	Silent	SNP	G	TCGA-BR-8682-01A-11D-2394-08	723211	132545910	48369350	21	73342											
GRIA1	2890	broad.mit.edu	37	chr5	153085359	153085359	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggggatctccatcatgattAaaaaaccacagaaatccaag	7	9	2	2			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr5:153085359A>T	uc003lva.3	+	11	1920	c.1555A>T	c.(1555-1557)AAA>TAA	p.K519*	GRIA1_uc003luy.3_Nonsense_Mutation_p.K519*|GRIA1_uc003luz.3_Nonsense_Mutation_p.K424*|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Nonsense_Mutation_p.K439*|GRIA1_uc011dcx.1_Nonsense_Mutation_p.K450*|GRIA1_uc011dcy.1_Nonsense_Mutation_p.K529*|GRIA1_uc011dcz.1_Nonsense_Mutation_p.K529*|GRIA1_uc010jia.1_Nonsense_Mutation_p.K499*	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	519	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CATCATGATTAAAAAACCACA	0.428													T	153085359	A	T	153085359	4	4	105	1	0	0	0	0	0	1	0	0	6767	363	13	5	1597	5	GRIA1	5	153085359	Nonsense_Mutation	SNP	A	TCGA-BR-8682-01A-11D-2394-08	20539449	153085359	27829901	22	73343											
CFB	629	broad.mit.edu	37	chr6	31901495	31901495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcgaatcttgtgctcaCggggtcttcggagcgggagt	14	11	3	0	rs138034438	by1000genomes	TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr6:31901495C>T	uc011dor.1	+	3	629	c.365C>T	c.(364-366)ACG>ATG	p.T122M	C2_uc003nyc.2_Missense_Mutation_p.R16W|C2_uc011doo.1_Missense_Mutation_p.R16W|C2_uc011dop.1_Missense_Mutation_p.T61M|C2_uc003nye.3_Missense_Mutation_p.T184M|C2_uc003nyf.2_Missense_Mutation_p.T184M|C2_uc010jtk.2_Missense_Mutation_p.T52M|C2_uc011doq.1_Missense_Mutation_p.T155M|C2_uc003nyg.2_Missense_Mutation_p.T52M	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1						CTTGTGCTCACGGGGTCTTCG	0.642													T	31901495	C	T	31901495	3	4	105	1	0	0	0	0	1	0	0	0	3278	536	19	1		1	CFB	6	31901495	Missense_Mutation	SNP	C	TCGA-BR-8682-01A-11D-2394-08		31901495	139213572	23	73344											
TNXB	7148	broad.mit.edu	37	chr6	32017048	32017048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgtccccccactcaccCgtgatgcccacggtggacac	10	19	1	1			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr6:32017048C>T	uc003nzl.2	-	28	9952	c.9750G>A	c.(9748-9750)ACG>ACA	p.T3250T	TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3297					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CCCACTCACCCGTGATGCCCA	0.637													T	32017048	C	T	32017048	2	4	105	1	0	0	0	0	0	0	0	1	16343	666	23	1		1	TNXB	6	32017048	Silent	SNP	C	TCGA-BR-8682-01A-11D-2394-08	115553	32017048	139098019	24	73345											
NCR2	9436	broad.mit.edu	37	chr6	41309565	41309565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagacctcctggactccccGcgacctggtctcttcacaga	8	17	2	2	rs142832518	byFrequency	TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr6:41309565G>A	uc003oqh.2	+	3	515	c.428G>A	c.(427-429)CGC>CAC	p.R143H	NCR2_uc003oqi.2_Missense_Mutation_p.R143H|NCR2_uc003oqj.2_Missense_Mutation_p.R143H	NM_004828	NP_004819	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	143	Extracellular (Potential).				cellular defense response	integral to plasma membrane	transmembrane receptor activity			ovary(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGGACTCCCCGCGACCTGGTC	0.617													A	41309565	G	A	41309565	3	1	105	1	0	0	0	0	1	0	0	0	10238	1087	38	1	438	1	NCR2	6	41309565	Missense_Mutation	SNP	G	TCGA-BR-8682-01A-11D-2394-08	9292517	41309565	129805502	25	73346											
MAP3K7	6885	broad.mit.edu	37	chr6	91271380	91271392	+	Splice_Site	DEL	GACACACCTAAAG	GACACACCTAAAG	-													ttcagcatattccatcacaaGacacacctaaaggaaacata							TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr6:91271379_91271391AGACACACCTAAAG>A	uc003pnz.1	-	4	603	c.298_splice	c.e4-1	p.V100_splice	MAP3K7_uc003pob.1_Splice_Site_p.V100_splice|MAP3K7_uc003poa.1_Splice_Site_p.V100_splice|MAP3K7_uc003poc.1_Splice_Site_p.V100_splice	NM_145331	NP_663304	O43318	M3K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA.	100	Protein kinase.				I-kappaB phosphorylation|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTCCATCACAAGACACACCTAAAGGAAACATAT	0.319													-	91271392	GACACACCTAAAG	-	91271380	8	5	105	1	0	1	0	1	0	0	1	0	9255	942	33	0	1572	0	MAP3K7	6	91271380	Splice_Site	DEL	GACACACCTAAAG	TCGA-BR-8682-01A-11D-2394-08	49961815	91271380	79843687	26	73347											
RFPL4B	442247	broad.mit.edu	37	chr6	112671190	112671190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggaggagctccggcattttCgggaggatgtgaccctggat	17	8	0	1	rs142366862	byFrequency	TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr6:112671190C>T	uc003pvx.1	+	3	592	c.280C>T	c.(280-282)CGG>TGG	p.R94W		NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	94	B30.2/SPRY.						zinc ion binding				0		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CCGGCATTTTCGGGAGGATGT	0.522													T	112671190	C	T	112671190	3	4	105	1	0	0	0	0	1	0	0	0	13256	875	31	1	282	1	RFPL4B	6	112671190	Missense_Mutation	SNP	C	TCGA-BR-8682-01A-11D-2394-08	21399810	112671190	58443877	27	73348											
HEY2	23493	broad.mit.edu	37	chr6	126080849	126080849	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggccacagccatcagcccGcccttgtcagtatcagccac	9	18	3	0			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr6:126080849G>A	uc003qad.2	+	5	1106	c.915G>A	c.(913-915)CCG>CCA	p.P305P	HEY2_uc011ebr.1_Silent_p.P259P	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	hairy/enhancer-of-split related with YRPW motif	305					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CCATCAGCCCGCCCTTGTCAG	0.597													A	126080849	G	A	126080849	2	1	105	1	0	0	0	0	0	0	0	1	7079	1074	38	1		1	HEY2	6	126080849	Silent	SNP	G	TCGA-BR-8682-01A-11D-2394-08	13409659	126080849	45034218	28	73349											
MOXD1	26002	broad.mit.edu	37	chr6	132649655	132649655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccggactccagaacgctgtCgttaaagttgttgctgcact	11	11	0	1			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr6:132649655C>T	uc003qdf.2	-	5	841	c.742G>A	c.(742-744)GAC>AAC	p.D248N	MOXD1_uc003qde.2_Missense_Mutation_p.D180N	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	248	Lumenal (Potential).				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		AGAACGCTGTCGTTAAAGTTG	0.512													T	132649655	C	T	132649655	3	4	105	1	0	0	0	0	1	0	0	0	9720	884	31	1	1131	1	MOXD1	6	132649655	Missense_Mutation	SNP	C	TCGA-BR-8682-01A-11D-2394-08	6568806	132649655	38465412	29	73350											
PHACTR2	9749	broad.mit.edu	37	chr6	144086652	144086652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtggagagtttcaaactcGaacagactgtccctggagct	12	9	1	2			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr6:144086652G>A	uc003qjq.3	+	6	1046	c.916G>A	c.(916-918)GAA>AAA	p.E306K	PHACTR2_uc010khh.2_Missense_Mutation_p.E226K|PHACTR2_uc010khi.2_Missense_Mutation_p.E317K|PHACTR2_uc003qjr.3_Missense_Mutation_p.E237K	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	306							actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TTTCAAACTCGAACAGACTGT	0.562													A	144086652	G	A	144086652	3	1	105	1	0	0	0	0	1	0	0	0	11810	1059	37	1	988	1	PHACTR2	6	144086652	Missense_Mutation	SNP	G	TCGA-BR-8682-01A-11D-2394-08	11436997	144086652	27028415	30	73351											
ABCA13	154664	broad.mit.edu	37	chr7	48431656	48431656	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctgttggacaacctcacCgtccgggaacatttgctgct	9	13	1	0	rs147058958	by1000genomes	TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr7:48431656C>T	uc003toq.2	+	38	11818	c.11793C>T	c.(11791-11793)ACC>ACT	p.T3931T	ABCA13_uc010kys.1_Silent_p.T1005T|ABCA13_uc003tos.1_Silent_p.T757T|ABCA13_uc010kyt.1_RNA	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3931	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						ACAACCTCACCGTCCGGGAAC	0.507													T	48431656	C	T	48431656	2	4	105	1	0	0	0	0	0	0	0	1	31	639	23	1		1	ABCA13	7	48431656	Silent	SNP	C	TCGA-BR-8682-01A-11D-2394-08		48431656	110707007	31	73352											
FIGNL1	63979	broad.mit.edu	37	chr7	50514267	50514267	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagactggttagataagaacAcattaagtcctatgttttct	7	6	1	3			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr7:50514267A>T	uc003tpc.2	-	4	1096	c.719T>A	c.(718-720)GTG>GAG	p.V240E	FIGNL1_uc003tpb.2_Missense_Mutation_p.V129E|FIGNL1_uc003tpd.2_Missense_Mutation_p.V240E|FIGNL1_uc003tpe.2_Missense_Mutation_p.V240E|FIGNL1_uc010kyy.2_Missense_Mutation_p.V240E	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	240					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			ovary(3)	3	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AGATAAGAACACATTAAGTCC	0.393													T	50514267	A	T	50514267	3	4	105	1	0	0	0	0	1	0	0	0	5892	159	6	5	1309	5	FIGNL1	7	50514267	Missense_Mutation	SNP	A	TCGA-BR-8682-01A-11D-2394-08	2082611	50514267	108624396	32	73353											
LMTK2	22853	broad.mit.edu	37	chr7	97823365	97823365	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgcatcccacggaagaCgaggccagcagtccctggag	14	13	0	1			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr7:97823365C>T	uc003upd.1	+	11	3881	c.3588C>T	c.(3586-3588)GAC>GAT	p.D1196D		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	1196					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCACGGAAGACGAGGCCAGCA	0.597													T	97823365	C	T	97823365	2	4	105	1	0	0	0	0	0	0	0	1	8859	535	19	1		1	LMTK2	7	97823365	Silent	SNP	C	TCGA-BR-8682-01A-11D-2394-08	47309098	97823365	61315298	33	73354											
CAV1	857	broad.mit.edu	37	chr7	116199088	116199088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaccaccttcactgtgaCgaaatactggttttaccgct	6	13	2	1			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr7:116199088C>T	uc003vif.1	+	3	562	c.284C>T	c.(283-285)ACG>ATG	p.T95M	CAV1_uc010lkd.1_Missense_Mutation_p.T64M|CAV1_uc010lke.1_Missense_Mutation_p.T64M|CAV1_uc003vig.1_RNA|CAV1_uc003vih.2_Missense_Mutation_p.T64M|CAV1_uc010lkf.1_Missense_Mutation_p.T64M	NM_001753	NP_001744	Q03135	CAV1_HUMAN	caveolin 1	95	Cytoplasmic (Potential).				blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization	apical plasma membrane|basolateral plasma membrane|caveola|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm	cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding				0	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			TTCACTGTGACGAAATACTGG	0.483													T	116199088	C	T	116199088	3	4	105	1	0	0	0	0	1	0	0	0	2693	536	19	1	294	1	CAV1	7	116199088	Missense_Mutation	SNP	C	TCGA-BR-8682-01A-11D-2394-08	18375723	116199088	42939575	34	73355											
TRPA1	8989	broad.mit.edu	37	chr8	72970030	72970030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggagagcgtccttcagaatCgatcttattaatatctgctc	8	9	3	2			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr8:72970030C>T	uc003xza.2	-	9	1190	c.1015G>A	c.(1015-1017)GAT>AAT	p.D339N		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	339	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	CCTTCAGAATCGATCTTATTA	0.338													T	72970030	C	T	72970030	3	4	105	1	0	0	0	0	1	0	0	0	16574	884	31	1	2420	1	TRPA1	8	72970030	Missense_Mutation	SNP	C	TCGA-BR-8682-01A-11D-2394-08		72970030	73393992	35	73356											
RALYL	138046	broad.mit.edu	37	chr8	85774574	85774574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctccacctccccgtgcaGtaattccgctgaagcgtccc	8	18	0	1			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr8:85774574G>A	uc003ycq.3	+	7	873	c.457G>A	c.(457-459)GTA>ATA	p.V153I	RALYL_uc003ycr.3_Missense_Mutation_p.V153I|RALYL_uc003ycs.3_Missense_Mutation_p.V153I|RALYL_uc010lzy.2_Missense_Mutation_p.V142I|RALYL_uc003yct.3_Missense_Mutation_p.V166I|RALYL_uc003ycu.3_Missense_Mutation_p.V80I|RALYL_uc003ycv.3_Missense_Mutation_p.V65I	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like isoform 2	153							identical protein binding|nucleotide binding|RNA binding			ovary(1)	1						TCCCCGTGCAGTAATTCCGCT	0.512													A	85774574	G	A	85774574	3	1	105	1	0	0	0	0	1	0	0	0	13020	1029	36	4	518	4	RALYL	8	85774574	Missense_Mutation	SNP	G	TCGA-BR-8682-01A-11D-2394-08	12804544	85774574	60589448	36	73357											
FOXE1	2304	broad.mit.edu	37	chr9	100616580	100616580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaagggcaactactgggcGcttgaccccaacgcggagga	15	11	0	1			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr9:100616580G>A	uc004axu.2	+	1	1044	c.384G>A	c.(382-384)GCG>GCA	p.A128A		NM_004473	NP_004464	O00358	FOXE1_HUMAN	forkhead box E1	128	Fork-head.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		Acute lymphoblastic leukemia(62;0.158)				ACTACTGGGCGCTTGACCCCA	0.637													A	100616580	G	A	100616580	2	1	105	1	0	0	0	0	0	0	0	1	6003	1074	38	1		1	FOXE1	9	100616580	Silent	SNP	G	TCGA-BR-8682-01A-11D-2394-08		100616580	40596851	37	73358											
OLFM1	10439	broad.mit.edu	37	chr9	138011806	138011806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatctgcggcacgctgtacGtcaccaacggctactcaggg	11	14	4	0			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr9:138011806G>A	uc010nar.2	+	6	1556	c.1240G>A	c.(1240-1242)GTC>ATC	p.V414I	OLFM1_uc004cfl.3_Missense_Mutation_p.V396I|OLFM1_uc004cfn.3_Missense_Mutation_p.V165I	NM_014279	NP_055094	Q99784	NOE1_HUMAN	olfactomedin related ER localized protein	414	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			ovary(1)|skin(1)	2		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CACGCTGTACGTCACCAACGG	0.577													A	138011806	G	A	138011806	3	1	105	1	0	0	0	0	1	0	0	0	10852	1145	40	1	1218	1	OLFM1	9	138011806	Missense_Mutation	SNP	G	TCGA-BR-8682-01A-11D-2394-08	37395226	138011806	3201625	38	73359											
ITIH5	80760	broad.mit.edu	37	chr10	7684001	7684001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaccgtagtgaaggcataaCgggaaatgatggtagacttc	12	6	0	3			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr10:7684001C>T	uc001ijq.2	-	3	267	c.188G>A	c.(187-189)CGT>CAT	p.R63H	ITIH5_uc001ijr.1_Missense_Mutation_p.R63H	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	63	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						GAAGGCATAACGGGAAATGAT	0.438													T	7684001	C	T	7684001	3	4	105	1	0	0	0	0	1	0	0	0	7907	536	19	1	2825	1	ITIH5	10	7684001	Missense_Mutation	SNP	C	TCGA-BR-8682-01A-11D-2394-08		7684001	127850746	39	73360											
NEBL	10529	broad.mit.edu	37	chr10	21097582	21097582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtcgcctatagtgactcGccttttctatattggaggga	11	8	1	1			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr10:21097582G>A	uc001iqi.2	-	26	3015	c.2618C>T	c.(2617-2619)GCG>GTG	p.A873V	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	873	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						ATAGTGACTCGCCTTTTCTAT	0.403													A	21097582	G	A	21097582	3	1	105	1	0	0	0	0	1	0	0	0	10303	1087	38	1	438	1	NEBL	10	21097582	Missense_Mutation	SNP	G	TCGA-BR-8682-01A-11D-2394-08	13413581	21097582	114437165	40	73361											
C10orf71	118461	broad.mit.edu	37	chr10	50530877	50530877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggaacattcgggctgggCggccaccttccaacagctac	11	15	0	0			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr10:50530877C>T	uc010qgp.1	+	3	626	c.287C>T	c.(286-288)GCG>GTG	p.A96V		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	96											0						TCGGGCTGGGCGGCCACCTTC	0.577													T	50530877	C	T	50530877	3	4	105	1	0	0	0	0	1	0	0	0	1614	768	27	1	289	1	C10orf71	10	50530877	Missense_Mutation	SNP	C	TCGA-BR-8682-01A-11D-2394-08	29433295	50530877	85003870	41	73362											
C10orf71	118461	broad.mit.edu	37	chr10	50531976	50531976	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccctggattcagcagacagCcagccagcagagcgaacccc	11	16	1	2			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr10:50531976C>A	uc010qgp.1	+	3	1725	c.1386C>A	c.(1384-1386)AGC>AGA	p.S462R		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	462											0						CAGCAGACAGCCAGCCAGCAG	0.537													A	50531976	C	A	50531976	3	1	105	1	0	0	0	0	1	0	0	0	1614	738	26	5	1388	5	C10orf71	10	50531976	Missense_Mutation	SNP	C	TCGA-BR-8682-01A-11D-2394-08	1099	50531976	85002771	42	73363											
RGR	5995	broad.mit.edu	37	chr10	86008690	86008690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccacaggcgctggccctaCggctcggacggctgccaggc	14	17	0	0	rs149839596	byFrequency	TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr10:86008690C>T	uc001kdc.1	+	3	287	c.249C>T	c.(247-249)TAC>TAT	p.Y83Y	RGR_uc001kdb.1_Missense_Mutation_p.R71W|RGR_uc001kdd.1_Silent_p.Y87Y|RGR_uc001kde.1_Silent_p.Y83Y	NM_001012720	NP_001012738	P47804	RGR_HUMAN	retinal G-protein coupled receptor isoform 2	83	Extracellular (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			ovary(1)	1						GCTGGCCCTACGGCTCGGACG	0.622													T	86008690	C	T	86008690	2	4	105	1	0	0	0	0	0	0	0	1	13291	547	19	1		1	RGR	10	86008690	Silent	SNP	C	TCGA-BR-8682-01A-11D-2394-08	35476714	86008690	49526057	43	73364											
TCTN3	26123	broad.mit.edu	37	chr10	97444352	97444352	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaactttctggattccaaaAgtcccattggtctctatctc	6	11	3	0			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr10:97444352A>T	uc001klb.3	-	9	1243	c.999T>A	c.(997-999)ACT>ACA	p.T333T	TCTN3_uc001kla.3_Silent_p.T182T|TCTN3_uc010qoi.1_Intron|TCTN3_uc001kld.2_Silent_p.T351T|TCTN3_uc009xux.1_Silent_p.T155T|TCTN3_uc009xuy.1_RNA	NM_015631	NP_056446	Q6NUS6	TECT3_HUMAN	tectonic 3 isoform a precursor	333	Extracellular (Potential).				apoptosis	integral to membrane					0		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		GGATTCCAAAAGTCCCATTGG	0.408													T	97444352	A	T	97444352	2	4	105	1	0	0	0	0	0	0	0	1	15721	59	3	5		5	TCTN3	10	97444352	Silent	SNP	A	TCGA-BR-8682-01A-11D-2394-08	11435662	97444352	38090395	44	73365											
FAM175B	23172	broad.mit.edu	37	chr10	126517346	126517346	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tataatcagaggatatcactCgctattcccaatctaggaaa	6	9	3	1			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr10:126517346C>T	uc001lib.3	+	6	525	c.480C>T	c.(478-480)CTC>CTT	p.L160L		NM_032182	NP_115558	Q15018	F175B_HUMAN	hypothetical protein LOC23172	160						BRISC complex	polyubiquitin binding				0						GGATATCACTCGCTATTCCCA	0.358													T	126517346	C	T	126517346	2	4	105	1	0	0	0	0	0	0	0	1	5498	871	31	1		1	FAM175B	10	126517346	Silent	SNP	C	TCGA-BR-8682-01A-11D-2394-08	29072994	126517346	9017401	45	73366											
SF1	7536	broad.mit.edu	37	chr11	64533312	64533312	+	Frame_Shift_Del	DEL	G	G	-													agttctgtggtggaggcggtGggggagctggaggcatcccg							TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr11:64533312delG	uc001obb.1	-	13	2275	c.1898delC	c.(1897-1899)CCAfs	p.P633fs	SF1_uc010rnm.1_Intron|SF1_uc010rnn.1_Frame_Shift_Del_p.P607fs|SF1_uc001oaz.1_Intron|SF1_uc001oba.1_Intron|SF1_uc001obc.1_Intron|SF1_uc001obd.1_Intron|SF1_uc001obe.1_Intron|SF1_uc010rno.1_Intron	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	633	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3						TGGAGGCGGTGGGGGAGCTGG	0.517													-	64533312	G	-	64533312	7	5	105	1	0	1	0	1	0	0	0	0	14145	1348	47	0	159	0	SF1	11	64533312	Frame_Shift_Del	DEL	G	TCGA-BR-8682-01A-11D-2394-08		64533312	70473204	46	73367											
ANO2	57101	broad.mit.edu	37	chr12	5672628	5672628	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcatgctcctctttcaggAagaaatccactaataagctc	5	12	3	1			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr12:5672628A>C	uc001qnm.2	-	26	2906	c.2834T>G	c.(2833-2835)TTC>TGC	p.F945C		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	950	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						CTCTTTCAGGAAGAAATCCAC	0.552													C	5672628	A	C	5672628	3	2	105	1	0	0	0	0	1	0	0	0	697	246	9	5	166	5	ANO2	12	5672628	Missense_Mutation	SNP	A	TCGA-BR-8682-01A-11D-2394-08		5672628	128179267	47	73368											
CPNE8	144402	broad.mit.edu	37	chr12	39154659	39154659	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtcttaccttccatctcGgtcccagtcatacacctcta	4	16	4	0			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr12:39154659G>A	uc001rls.1	-	10	796	c.712C>T	c.(712-714)CGA>TGA	p.R238*		NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	copine VIII	238	C2 2.									pancreas(1)	1	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CTTCCATCTCGGTCCCAGTCA	0.323													A	39154659	G	A	39154659	4	1	105	1	0	0	0	0	0	1	0	0	3818	1124	39	1	1026	1	CPNE8	12	39154659	Nonsense_Mutation	SNP	G	TCGA-BR-8682-01A-11D-2394-08	33482031	39154659	94697236	48	73369											
C12orf51	283450	broad.mit.edu	37	chr12	112711519	112711519	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcagacataatggaaggcttGattcccagggttacaccact	10	10	0	2			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr12:112711519G>C	uc009zwc.2	-	4	604	c.586C>G	c.(586-588)CAA>GAA	p.Q196E	C12orf51_uc010syk.1_Missense_Mutation_p.Q19E|C12orf51_uc001tts.2_Missense_Mutation_p.Q19E|C12orf51_uc001ttt.3_Missense_Mutation_p.Q19E	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						TGGAAGGCTTGATTCCCAGGG	0.458													C	112711519	G	C	112711519	3	2	105	1	0	0	0	0	1	0	0	0	1696	1299	45	5	11668	5	C12orf51	12	112711519	Missense_Mutation	SNP	G	TCGA-BR-8682-01A-11D-2394-08	73556860	112711519	21140376	49	73370											
WASF3	10810	broad.mit.edu	37	chr13	27256755	27256755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctcaggatgctcccagCgcagataattgagtattaca	8	11	2	2			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr13:27256755C>T	uc001uqv.2	+	9	1220	c.995C>T	c.(994-996)GCG>GTG	p.A332V	WASF3_uc001uqw.2_Missense_Mutation_p.A329V	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	332					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			pancreas(1)	1	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		ATGCTCCCAGCGCAGATAATT	0.552													T	27256755	C	T	27256755	3	4	105	1	0	0	0	0	1	0	0	0	17251	768	27	1	1021	1	WASF3	13	27256755	Missense_Mutation	SNP	C	TCGA-BR-8682-01A-11D-2394-08		27256755	87913123	50	73371											
DCLK1	9201	broad.mit.edu	37	chr13	36410272	36410272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaatctggaagccttcctccGacacttctgaaagaatcatt	7	11	3	2			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr13:36410272G>A	uc001uvf.2	-	8	1360	c.1127C>T	c.(1126-1128)TCG>TTG	p.S376L	DCLK1_uc001uve.3_Missense_Mutation_p.S69L|DCLK1_uc010teh.1_Missense_Mutation_p.S69L|DCLK1_uc010abk.2_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	376					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GCCTTCCTCCGACACTTCTGA	0.353													A	36410272	G	A	36410272	3	1	105	1	0	0	0	0	1	0	0	0	4291	1059	37	1	1106	1	DCLK1	13	36410272	Missense_Mutation	SNP	G	TCGA-BR-8682-01A-11D-2394-08	9153517	36410272	78759606	51	73372											
DZIP1	22873	broad.mit.edu	37	chr13	96237021	96237021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccccttaggattaaatgcGccccaggcatttagcacatg	10	12	0	0			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr13:96237021G>A	uc001vmk.2	-	22	3345	c.2493C>T	c.(2491-2493)GGC>GGT	p.G831G	DZIP1_uc001vmi.2_Silent_p.G79G|DZIP1_uc001vmj.2_Silent_p.G307G|DZIP1_uc001vml.2_Silent_p.G812G|DZIP1_uc001vmm.2_5'Flank	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	831					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GATTAAATGCGCCCCAGGCAT	0.408													A	96237021	G	A	96237021	2	1	105	1	0	0	0	0	0	0	0	1	4863	1074	38	1		1	DZIP1	13	96237021	Silent	SNP	G	TCGA-BR-8682-01A-11D-2394-08	59826749	96237021	18932857	52	73373											
SIX4	51804	broad.mit.edu	37	chr14	61186876	61186876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgccactgcctgtgtatttCccacatttaatccattaagg	6	11	0	0			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr14:61186876C>T	uc001xfc.2	-	2	1151	c.1151G>A	c.(1150-1152)GGA>GAA	p.G384E	SIX4_uc010app.1_Missense_Mutation_p.G376E	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	sine oculis homeobox homolog 4	384						nucleus				breast(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		CTGTGTATTTCCCACATTTAA	0.423													T	61186876	C	T	61186876	3	4	105	1	0	0	0	0	1	0	0	0	14349	855	30	4	1202	4	SIX4	14	61186876	Missense_Mutation	SNP	C	TCGA-BR-8682-01A-11D-2394-08		61186876	46162664	53	73374											
PRKCH	5583	broad.mit.edu	37	chr14	61997205	61997205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgagatgctctgtggtcaCgcgccttttgaggcagagaa	13	8	2	3			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr14:61997205C>T	uc001xfn.2	+	12	1958	c.1653C>T	c.(1651-1653)CAC>CAT	p.H551H	PRKCH_uc010tsa.1_Silent_p.H390H|PRKCH_uc010tsb.1_Silent_p.H119H	NM_006255	NP_006246	P24723	KPCL_HUMAN	protein kinase C, eta	551	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TCTGTGGTCACGCGCCTTTTG	0.552													T	61997205	C	T	61997205	2	4	105	1	0	0	0	0	0	0	0	1	12513	535	19	1		1	PRKCH	14	61997205	Silent	SNP	C	TCGA-BR-8682-01A-11D-2394-08	810329	61997205	45352335	54	73375											
C15orf26	161502	broad.mit.edu	37	chr15	81428869	81428869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattgtagatgcaactttccGtaactgaagatggctatatt	8	6	0	3			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr15:81428869G>A	uc002bgb.2	+	3	199	c.172G>A	c.(172-174)GTA>ATA	p.V58I	C15orf26_uc010blp.1_Missense_Mutation_p.V33I	NM_173528	NP_775799	Q6P656	CO026_HUMAN	hypothetical protein LOC161502	58											0						GCAACTTTCCGTAACTGAAGA	0.408													A	81428869	G	A	81428869	3	1	105	1	0	0	0	0	1	0	0	0	1787	1145	40	1	182	1	C15orf26	15	81428869	Missense_Mutation	SNP	G	TCGA-BR-8682-01A-11D-2394-08		81428869	21102523	55	73376											
LUC7L	55692	broad.mit.edu	37	chr16	240114	240114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagatcttgaccgcctccgaCgccgatcccgggagcgtgac	12	15	1	3			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr16:240114C>T	uc002cgc.1	-	9	938	c.827G>A	c.(826-828)CGT>CAT	p.R276H	LUC7L_uc002cga.1_Missense_Mutation_p.R276H|LUC7L_uc002cgd.1_RNA|LUC7L_uc002cge.1_Missense_Mutation_p.R276H|LUC7L_uc002cgb.1_Missense_Mutation_p.R190H	NM_201412	NP_958815	Q9NQ29	LUC7L_HUMAN	LUC7-like isoform b	276	Arg/Ser-rich.						metal ion binding			central_nervous_system(1)	1		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CCGCCTCCGACGCCGATCCCG	0.622													T	240114	C	T	240114	3	4	105	1	0	0	0	0	1	0	0	0	9082	536	19	1	300	1	LUC7L	16	240114	Missense_Mutation	SNP	C	TCGA-BR-8682-01A-11D-2394-08		240114	90114639	56	73377											
AXIN1	8312	broad.mit.edu	37	chr16	347940	347940	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggccggccgcgtccagcttCgcccctgacttgggtacgtg	14	15	0	1			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr16:347940C>T	uc002cgp.1	-	6	1743	c.1566G>A	c.(1564-1566)GCG>GCA	p.A522A	AXIN1_uc002cgq.1_Silent_p.A522A	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	522	Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CGTCCAGCTTCGCCCCTGACT	0.716													T	347940	C	T	347940	2	4	105	1	0	0	0	0	0	0	0	1	1236	871	31	1		1	AXIN1	16	347940	Silent	SNP	C	TCGA-BR-8682-01A-11D-2394-08	107826	347940	90006813	57	73378											
PRR25	388199	broad.mit.edu	37	chr16	855739	855739	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcaggaacagcgcagccGctcgcaaatgcagtgtgcga	13	12	1	0			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr16:855739G>A	uc010uut.1	+	1	297	c.297G>A	c.(295-297)CCG>CCA	p.P99P		NM_001013638	NP_001013660	Q96S07	PRR25_HUMAN	proline rich 25	99										large_intestine(1)	1						CAGCGCAGCCGCTCGCAAATG	0.647													A	855739	G	A	855739	2	1	105	1	0	0	0	0	0	0	0	1	12597	1074	38	1		1	PRR25	16	855739	Silent	SNP	G	TCGA-BR-8682-01A-11D-2394-08	507799	855739	89499014	58	73379											
SNX29	92017	broad.mit.edu	37	chr16	12293530	12293530	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgctgaaaagagaaggtcaAacagctgaaggtgaggggga	16	4	1	4	rs142571390	by1000genomes	TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr16:12293530A>G	uc002dby.3	+	7	569	c.513A>G	c.(511-513)CAA>CAG	p.Q171Q	SNX29_uc010uyx.1_Silent_p.Q198Q	NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	171					cell communication		phosphatidylinositol binding			ovary(1)	1						GAGAAGGTCAAACAGCTGAAG	0.493													G	12293530	A	G	12293530	2	3	105	1	0	0	0	0	0	0	0	1	14898	11	1	3		3	SNX29	16	12293530	Silent	SNP	A	TCGA-BR-8682-01A-11D-2394-08	11437791	12293530	78061223	59	73380											
PHKB	5257	broad.mit.edu	37	chr16	47694578	47694579	+	Frame_Shift_Ins	INS	-	-	T													aatttttaggcttccagaatINSttaagagttttgaggaacta							TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr16:47694577_47694578A>AT	uc002eev.4	+	21	2095_2096	c.2043_2044A>AT	c.(2041-2046)gaatttfs	p.E681fs	PHKB_uc002eeu.4_Frame_Shift_Ins_p.E674fs	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	681					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GGCTTCCAGAATTTAAGAGTTT	0.381													T	47694579	-	T	47694578	7	5	105	1	0	1	1	0	0	0	0	0	11845	1493	52	0	2189	0	PHKB	16	47694578	Frame_Shift_Ins	INS	-	TCGA-BR-8682-01A-11D-2394-08	35401048	47694578	42660175	60	73381											
SALL1	6299	broad.mit.edu	37	chr16	51174418	51174418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgggggctggctcttccGtcttgatgaagggtatgagg	18	6	2	3			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr16:51174418G>A	uc010vgs.1	-	2	1746	c.1715C>T	c.(1714-1716)ACG>ATG	p.T572M	SALL1_uc010vgr.1_Missense_Mutation_p.T475M|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	572					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGCTCTTCCGTCTTGATGAA	0.602													A	51174418	G	A	51174418	3	1	105	1	0	0	0	0	1	0	0	0	13810	1145	40	1	2267	1	SALL1	16	51174418	Missense_Mutation	SNP	G	TCGA-BR-8682-01A-11D-2394-08	3479840	51174418	39180335	61	73382											
TRADD	8717	broad.mit.edu	37	chr16	67189149	67189149	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagccgcacttcagatttcGcagcgcatcctccagctcag	9	16	2	1			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr16:67189149G>A	uc002eri.1	-	4	558	c.478C>T	c.(478-480)CGA>TGA	p.R160*	TRADD_uc002erh.1_Nonsense_Mutation_p.R100*	NM_003789	NP_003780	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	160					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			lung(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		TTCAGATTTCGCAGCGCATCC	0.701													A	67189149	G	A	67189149	4	1	105	1	0	0	0	0	0	1	0	0	16433	1095	38	1	468	1	TRADD	16	67189149	Nonsense_Mutation	SNP	G	TCGA-BR-8682-01A-11D-2394-08	16014731	67189149	23165604	62	73383											
TP53	7157	broad.mit.edu	37	chr17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcctgcttgcttacctcGcttagtgctccctgggggca	11	13	0	0	rs121913344		TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr17:7577022G>A	uc002gim.2	-	8	1110	c.916C>T	c.(916-918)CGA>TGA	p.R306*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	306	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.		R -> Q (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R306*(99)|p.0?(7)|p.?(3)|p.R306R(2)|p.R306fs*39(2)|p.K305fs*1(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCTTACCTCGCTTAGTGCTC	0.562	R306*(MFE296_ENDOMETRIUM)|R306*(HCC1937_BREAST)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7577022	G	A	7577022	4	1	105	1	0	0	0	0	0	1	0	0	16378	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-BR-8682-01A-11D-2394-08		7577022	73618188	63	73384											
KRTAP4-12	83755	broad.mit.edu	37	chr17	39280351	39280352	+	Frame_Shift_Del	DEL	AG	AG	-													cagccctggtcagagcacacAgagccacaacaggagttgac							TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr17:39280350_39280351CAG>C	uc002hwa.3	-	0	69_70	c.24_25CTG>G	c.(22-27)tctgtgfs	p.S8fs		NM_031854	NP_114060	Q9BQ66	KR412_HUMAN	Homo sapiens keratin associated protein 4-12 (KRTAP4-12), mRNA.	8	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TCAGAGCACACAGAGCCACAAC	0.599													-	39280352	AG	-	39280351	7	5	105	1	0	1	0	1	0	0	0	0	8550	175	7	0	585	0	KRTAP4-12	17	39280351	Frame_Shift_Del	DEL	AG	TCGA-BR-8682-01A-11D-2394-08	31703329	39280351	41914859	64	73385											
MYST2	11143	broad.mit.edu	37	chr17	47903390	47903390	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttccaaagtcgaagaaaaAgttggctccccagaacgtcc	8	12	0	2			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr17:47903390A>C	uc002ipm.2	+	13	1635	c.1509A>C	c.(1507-1509)AAA>AAC	p.K503N	MYST2_uc010wma.1_Missense_Mutation_p.K364N|MYST2_uc010wmb.1_Missense_Mutation_p.K393N|MYST2_uc010wmc.1_Missense_Mutation_p.K334N|MYST2_uc010wmd.1_Missense_Mutation_p.K347N|MYST2_uc010wme.1_Missense_Mutation_p.K317N|MYST2_uc010wmf.1_Missense_Mutation_p.K168N|MYST2_uc010wmg.1_Missense_Mutation_p.K58N	NM_007067	NP_008998	O95251	MYST2_HUMAN	MYST histone acetyltransferase 2	503					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						TCGAAGAAAAAGTTGGCTCCC	0.428													C	47903390	A	C	47903390	3	2	105	1	0	0	0	0	1	0	0	0	10103	69	3	5	1559	5	MYST2	17	47903390	Missense_Mutation	SNP	A	TCGA-BR-8682-01A-11D-2394-08	8623039	47903390	33291820	65	73386											
UNK	85451	broad.mit.edu	37	chr17	73819366	73819367	+	Frame_Shift_Del	DEL	AG	AG	-													gcttgtgatgcctggaagaaAgaggcggaggaggctggtga							TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr17:73819365_73819366AAG>A	uc002jpm.3	+	15	2267_2268	c.2267_2268AAG>A	c.(2266-2268)aaafs	p.K756fs	UNK_uc021udd.1_Frame_Shift_Del_p.K680fs	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA.	680							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCTGGAAGAAAGAGGCGGAGG	0.653													-	73819367	AG	-	73819366	7	5	105	1	0	1	0	1	0	0	0	0	16997	69	3	0	2330	0	UNK	17	73819366	Frame_Shift_Del	DEL	AG	TCGA-BR-8682-01A-11D-2394-08	25915976	73819366	7375844	66	73387											
INSR	3643	broad.mit.edu	37	chr19	7132311	7132311	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agagcgaagtgcttgcgggaGacgcagagatgcagctcctg	16	9	0	3			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr19:7132311G>A	uc002mgd.1	-	14	2809	c.2700C>T	c.(2698-2700)GTC>GTT	p.V900V	INSR_uc002mge.1_Silent_p.V888V	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	900	Fibronectin type-III 3.|Extracellular (Potential).				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTTGCGGGAGACGCAGAGAT	0.652													A	7132311	G	A	7132311	2	1	105	1	0	0	0	0	0	0	0	1	7773	929	33	4		4	INSR	19	7132311	Silent	SNP	G	TCGA-BR-8682-01A-11D-2394-08		7132311	51996672	67	73388											
OR1M1	125963	broad.mit.edu	37	chr19	9204290	9204290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggcttatgaccggttcGtggccatctgccacccattg	11	12	1	2	rs148262558	by1000genomes	TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr19:9204290G>A	uc010xkj.1	+	1	370	c.370G>A	c.(370-372)GTG>ATG	p.V124M		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3						TGACCGGTTCGTGGCCATCTG	0.552													A	9204290	G	A	9204290	3	1	105	1	0	0	0	0	1	0	0	0	10968	1145	40	1	372	1	OR1M1	19	9204290	Missense_Mutation	SNP	G	TCGA-BR-8682-01A-11D-2394-08	2071979	9204290	49924693	68	73389											
SLC5A5	6528	broad.mit.edu	37	chr19	17994560	17994560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcttgggaatgttcctgcCggcctgcaacacaccggtga	11	13	1	1			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr19:17994560C>T	uc002nhr.3	+	11	1660	c.1313C>T	c.(1312-1314)CCG>CTG	p.P438L		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium iodide	438	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4						ATGTTCCTGCCGGCCTGCAAC	0.562													T	17994560	C	T	17994560	3	4	105	1	0	0	0	0	1	0	0	0	14668	652	23	1	1355	1	SLC5A5	19	17994560	Missense_Mutation	SNP	C	TCGA-BR-8682-01A-11D-2394-08	8790270	17994560	41134423	69	73390											
KIAA1683	80726	broad.mit.edu	37	chr19	18378091	18378091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttcttgaaggcctggctctCgaccacagcccggaggcgtg	14	13	2	1			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr19:18378091C>T	uc002nin.2	-	3	475	c.259G>A	c.(259-261)GAG>AAG	p.E87K	KIAA1683_uc010ebn.2_Missense_Mutation_p.E87K|KIAA1683_uc010xqe.1_Missense_Mutation_p.E41K	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	87						mitochondrion				ovary(2)	2						GCCTGGCTCTCGACCACAGCC	0.647													T	18378091	C	T	18378091	3	4	105	1	0	0	0	0	1	0	0	0	8251	893	31	1	3852	1	KIAA1683	19	18378091	Missense_Mutation	SNP	C	TCGA-BR-8682-01A-11D-2394-08	383531	18378091	40750892	70	73391											
ZNF536	9745	broad.mit.edu	37	chr19	31040026	31040026	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctctctgacattgcctcctCagaggacatggactcctcca	7	16	2	2			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr19:31040026C>T	uc002nsu.1	+	4	3638	c.3500C>T	c.(3499-3501)TCA>TTA	p.S1167L	ZNF536_uc010edd.1_Missense_Mutation_p.S1167L	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					ATTGCCTCCTCAGAGGACATG	0.527													T	31040026	C	T	31040026	3	4	105	1	0	0	0	0	1	0	0	0	17971	838	29	4	3510	4	ZNF536	19	31040026	Missense_Mutation	SNP	C	TCGA-BR-8682-01A-11D-2394-08	12661935	31040026	28088957	71	73392											
ZNF569	148266	broad.mit.edu	37	chr19	37905171	37905172	+	Frame_Shift_Ins	INS	-	-	A													gagattgtgtctggaagggaINSaaaaatcagagttcagagga							TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr19:37905170_37905171G>GA	uc002ogj.3	-	8	1393_1394	c.461_462C>TC	c.(460-462)ttcfs	p.F154fs	ZNF569_uc002ogh.3_5'UTR|ZNF569_uc002ogi.3_Frame_Shift_Ins_p.F130fs	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTCTGGAAGGGAAAAAATCAGA	0.327													A	37905172	-	A	37905171	7	5	105	1	0	1	1	0	0	0	0	0	17997	246	9	0	1675	0	ZNF569	19	37905171	Frame_Shift_Ins	INS	-	TCGA-BR-8682-01A-11D-2394-08	6865145	37905171	21223812	72	73393											
GGN	199720	broad.mit.edu	37	chr19	38876902	38876902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtggcggcggtagggcccGggcttgggacgcaggcgccg	23	11	0	0			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr19:38876902G>A	uc002oij.1	-	3	1135	c.1000C>T	c.(1000-1002)CGG>TGG	p.R334W	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.R251W	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	334	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGTAGGGCCCGGGCTTGGGAC	0.667													A	38876902	G	A	38876902	3	1	105	1	0	0	0	0	1	0	0	0	6358	1115	39	1	966	1	GGN	19	38876902	Missense_Mutation	SNP	G	TCGA-BR-8682-01A-11D-2394-08	971731	38876902	20252081	73	73394											
PAK7	57144	broad.mit.edu	37	chr20	9561532	9561532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaaatcctctagcaggcCgttgatggaggtttccttgc	11	10	2	1			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr20:9561532C>T	uc002wnl.2	-	5	795	c.250G>A	c.(250-252)GGC>AGC	p.G84S	PAK7_uc002wnk.2_Missense_Mutation_p.G84S|PAK7_uc002wnj.2_Missense_Mutation_p.G84S|PAK7_uc010gby.1_Missense_Mutation_p.G84S	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	84	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)			TCTAGCAGGCCGTTGATGGAG	0.463													T	9561532	C	T	9561532	3	4	105	1	0	0	0	0	1	0	0	0	11405	652	23	1	1937	1	PAK7	20	9561532	Missense_Mutation	SNP	C	TCGA-BR-8682-01A-11D-2394-08		9561532	53463988	74	73395											
XKR7	343702	broad.mit.edu	37	chr20	30584454	30584454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacctgttcagcattgccGcccgcggcctggccttcgcg	13	17	1	0			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr20:30584454G>A	uc002wxe.2	+	3	1108	c.934G>A	c.(934-936)GCC>ACC	p.A312T		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	312						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CAGCATTGCCGCCCGCGGCCT	0.632													A	30584454	G	A	30584454	3	1	105	1	0	0	0	0	1	0	0	0	17433	1087	38	1	944	1	XKR7	20	30584454	Missense_Mutation	SNP	G	TCGA-BR-8682-01A-11D-2394-08	21022922	30584454	32441066	75	73396											
MYL9	10398	broad.mit.edu	37	chr20	35176528	35176528	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccatgtttggggagaAgctgaacggcacggaccccg	13	13	1	2			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr20:35176528A>C	uc002xfl.1	+	3	372	c.278A>C	c.(277-279)AAG>ACG	p.K93T	uc002xfk.3_Intron|MYL9_uc002xfm.1_Intron	NM_006097	NP_006088	P24844	MYL9_HUMAN	myosin regulatory light chain 9 isoform a	93					axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle				0	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TTTGGGGAGAAGCTGAACGGC	0.612													C	35176528	A	C	35176528	3	2	105	1	0	0	0	0	1	0	0	0	10054	72	3	5	284	5	MYL9	20	35176528	Missense_Mutation	SNP	A	TCGA-BR-8682-01A-11D-2394-08	4592074	35176528	27848992	76	73397											
ZHX3	23051	broad.mit.edu	37	chr20	39832810	39832810	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgttggcggcatggggGttttttgcagagctggcaga	18	8	0	2			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr20:39832810G>T	uc002xjs.1	-	3	1125	c.747C>A	c.(745-747)AAC>AAA	p.N249K	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.N249K|ZHX3_uc002xjt.1_Missense_Mutation_p.N249K|ZHX3_uc002xju.1_Missense_Mutation_p.N249K|ZHX3_uc002xjv.1_Missense_Mutation_p.N249K|ZHX3_uc002xjw.1_Missense_Mutation_p.N249K|ZHX3_uc010ggg.1_Missense_Mutation_p.N249K	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	249	Required for homodimerization and interaction with NFYA.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				CGGCATGGGGGTTTTTTGCAG	0.587													T	39832810	G	T	39832810	3	4	105	1	0	0	0	0	1	0	0	0	17674	1252	44	5	2131	5	ZHX3	20	39832810	Missense_Mutation	SNP	G	TCGA-BR-8682-01A-11D-2394-08	4656282	39832810	23192710	77	73398											
NCOA3	8202	broad.mit.edu	37	chr20	46266482	46266482	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccatatcctcaaatggtagtCatctggggactaagcaacag	9	10	3	0			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr20:46266482C>T	uc002xtk.2	+	13	2672	c.2467C>T	c.(2467-2469)CAT>TAT	p.H823Y	NCOA3_uc010ght.1_Missense_Mutation_p.H833Y|NCOA3_uc002xtl.2_Missense_Mutation_p.H823Y|NCOA3_uc002xtm.2_Missense_Mutation_p.H823Y|NCOA3_uc002xtn.2_Missense_Mutation_p.H823Y|NCOA3_uc010zyc.1_Missense_Mutation_p.H618Y	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	823					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						AAATGGTAGTCATCTGGGGAC	0.358													T	46266482	C	T	46266482	3	4	105	1	0	0	0	0	1	0	0	0	10230	826	29	4	2539	4	NCOA3	20	46266482	Missense_Mutation	SNP	C	TCGA-BR-8682-01A-11D-2394-08	6433672	46266482	16759038	78	73399											
TMPRSS3	64699	broad.mit.edu	37	chr21	43805630	43805630	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgagctcactctgaggttatCtgaactcacatagctgcaag	9	11	4	2			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr21:43805630C>A	uc002zbb.2	-	6	661	c.460G>T	c.(460-462)GAT>TAT	p.D154Y	TMPRSS3_uc002zay.2_5'Flank|TMPRSS3_uc002zaz.2_Missense_Mutation_p.D27Y|TMPRSS3_uc002zba.2_Missense_Mutation_p.D27Y|TMPRSS3_uc002zbc.2_Missense_Mutation_p.D154Y|TMPRSS3_uc002zbd.2_Missense_Mutation_p.D154Y	NM_024022	NP_076927	P57727	TMPS3_HUMAN	transmembrane protease, serine 3 isoform 1	154	SRCR.|Extracellular (Potential).				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			ovary(2)|breast(1)	3						CTGAGGTTATCTGAACTCACA	0.498													A	43805630	C	A	43805630	3	1	105	1	0	0	0	0	1	0	0	0	16245	913	32	5	1019	5	TMPRSS3	21	43805630	Missense_Mutation	SNP	C	TCGA-BR-8682-01A-11D-2394-08		43805630	4324265	79	73400											
PRAME	23532	broad.mit.edu	37	chr22	22890846	22890846	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcaaggagctgatcatcCgtgatcccacactcatcaaa	9	12	3	2			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chr22:22890846C>T	uc002zwf.2	-	5	1329	c.1173G>A	c.(1171-1173)ACG>ACA	p.T391T	LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Silent_p.T375T|PRAME_uc010gtr.2_Silent_p.T391T|PRAME_uc002zwg.2_Silent_p.T391T|PRAME_uc002zwh.2_Silent_p.T391T|PRAME_uc002zwi.2_Silent_p.T391T|PRAME_uc002zwj.2_Silent_p.T391T|PRAME_uc002zwk.2_Silent_p.T391T	NM_206956	NP_996839	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	391	LRR 3.				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			central_nervous_system(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GCTGATCATCCGTGATCCCAC	0.567													T	22890846	C	T	22890846	2	4	105	1	0	0	0	0	0	0	0	1	12424	639	23	1		1	PRAME	22	22890846	Silent	SNP	C	TCGA-BR-8682-01A-11D-2394-08		22890846	28413720	80	73401											
KIAA1210	57481	broad.mit.edu	37	chrX	118219449	118219449	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactcttctgcttctgctttGccatagttatccaaaccggc	6	13	3	0			TCGA-BR-8682-01A-11D-2394-08	TCGA-BR-8682-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea2055d1-7b8b-4aaf-9a70-8802f4deef9b	e959d24d-aab8-4a7e-a29c-5e2370ddcad8	g.chrX:118219449G>T	uc004era.3	-	12	4745	c.4745C>A	c.(4744-4746)GCA>GAA	p.A1582E		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	1582										ovary(4)|skin(1)	5						CTTCTGCTTTGCCATAGTTAT	0.448													T	118219449	G	T	118219449	3	4	105	1	0	0	0	0	1	0	0	0	8214	1319	46	5	396	5	KIAA1210	23	118219449	Missense_Mutation	SNP	G	TCGA-BR-8682-01A-11D-2394-08		118219449	37051111	81	73402											
CDC20	991	broad.mit.edu	37	chr1	43826794	43826794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctttattccatctaggccGtagcatggtgtccctggcag	10	12	1	0	rs1801456	byFrequency	TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:43826794G>A	uc001cix.2	+	9	1182	c.1081G>A	c.(1081-1083)GTA>ATA	p.V361I	CDC20_uc001ciy.2_Missense_Mutation_p.V361I	NM_001255	NP_001246	Q12834	CDC20_HUMAN	cell division cycle 20	361	WD 5.				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CATCTAGGCCGTAGCATGGTG	0.557													A	43826794	G	A	43826794	3	1	106	1	0	0	0	0	1	0	0	0	3059	1145	40	1	1111	1	CDC20	1	43826794	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08		43826794	205423827	1	73403											
NRD1	4898	broad.mit.edu	37	chr1	52280263	52280263	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgcagcatttttaaatactGaaagacagtgtaagcaacct	7	8	0	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:52280263G>A	uc001ctc.3	-	15	2105	c.1783C>T	c.(1783-1785)CAG>TAG	p.Q595*	NRD1_uc009vzb.2_Nonsense_Mutation_p.Q290*|NRD1_uc001ctd.3_Nonsense_Mutation_p.Q527*|NRD1_uc001cte.2_Nonsense_Mutation_p.Q463*|NRD1_uc001ctf.2_Nonsense_Mutation_p.Q527*|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Nonsense_Mutation_p.Q395*	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	526				Q -> L (in Ref. 2; CAA63698/CAA63694).	cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						TTTAAATACTGAAAGACAGTG	0.363													A	52280263	G	A	52280263	4	1	106	1	0	0	0	0	0	1	0	0	10645	1299	45	4	1952	4	NRD1	1	52280263	Nonsense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	8453469	52280263	196970358	2	73404											
BCAS2	10286	broad.mit.edu	37	chr1	115123954	115123954	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatccggggctgtcaggtagCtcaggtagttcttagtaggt	14	7	3	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:115123954C>G	uc001efa.2	-	2	205	c.152G>C	c.(151-153)AGC>ACC	p.S51T	DENND2C_uc001eez.2_RNA	NM_005872	NP_005863	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	51					mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding			large_intestine(1)	1	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTCAGGTAGCTCAGGTAGTT	0.473													G	115123954	C	G	115123954	3	3	106	1	0	0	0	0	1	0	0	0	1351	797	28	5	549	5	BCAS2	1	115123954	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	62843691	115123954	134126667	3	73405											
TSPAN2	10100	broad.mit.edu	37	chr1	115615613	115615613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatagtccaaaagcaatgaCggccgatccagccagctgga	10	13	0	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:115615613C>T	uc001eft.2	-	2	147	c.85G>A	c.(85-87)GTC>ATC	p.V29I		NM_005725	NP_005716	O60636	TSN2_HUMAN	tetraspan 2	29	Helical; (Potential).					integral to membrane					0	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		AAAGCAATGACGGCCGATCCA	0.517													T	115615613	C	T	115615613	3	4	106	1	0	0	0	0	1	0	0	0	16641	536	19	1	608	1	TSPAN2	1	115615613	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	491659	115615613	133635008	4	73406											
FLG	2312	broad.mit.edu	37	chr1	152278792	152278792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtggaagcttcatggtgaCgcgaccctgagtgcctggag	16	9	1	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:152278792C>T	uc001ezu.1	-	3	8606	c.8570G>A	c.(8569-8571)CGT>CAT	p.R2857H		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2857	Ser-rich.|Filaggrin 17.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCATGGTGACGCGACCCTGA	0.572									Ichthyosis				T	152278792	C	T	152278792	3	4	106	1	0	0	0	0	1	0	0	0	5922	536	19	1	3619	1	FLG	1	152278792	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	36663179	152278792	96971829	5	73407											
SYT11	23208	broad.mit.edu	37	chr1	155850376	155850376	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtggtggtcctcaaagccaGacacttgccgaagatggata	12	9	1	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:155850376G>T	uc001fmg.2	+	3	1210	c.947G>T	c.(946-948)AGA>ATA	p.R316I	SYT11_uc010pgq.1_Missense_Mutation_p.R9I	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	synaptotagmin XI	316	C2 2.|Cytoplasmic (Potential).					cell junction|synaptic vesicle membrane	protein binding|transporter activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CTCAAAGCCAGACACTTGCCG	0.502													T	155850376	G	T	155850376	3	4	106	1	0	0	0	0	1	0	0	0	15464	942	33	5	957	5	SYT11	1	155850376	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	3571584	155850376	93400245	6	73408											
KIAA0907	22889	broad.mit.edu	37	chr1	155896493	155896493	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagggaggcttctggcTaacagctggagacaactgag	15	8	1	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:155896493T>C	uc001fmi.1	-	6	679	c.655A>G	c.(655-657)AGC>GGC	p.S219G	KIAA0907_uc001fmj.1_Missense_Mutation_p.S219G|KIAA0907_uc009wrk.1_Intron|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.S219G|KIAA0907_uc001fmm.2_Intron|SCARNA4_uc001fmn.1_5'Flank|KIAA0907_uc001fmo.2_Missense_Mutation_p.S219G	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	219											0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GGCTTCTGGCTAACAGCTGGA	0.418													C	155896493	T	C	155896493	3	2	106	1	0	0	0	0	1	0	0	0	8199	1522	53	3	1225	3	KIAA0907	1	155896493	Missense_Mutation	SNP	T	TCGA-BR-8683-01A-11D-2394-08	46117	155896493	93354128	7	73409											
RXRG	6258	broad.mit.edu	37	chr1	165389170	165389170	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agatccggggctggtggatgGgtagttcatgtttccaatcc	14	8	1	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:165389170G>C	uc001gda.2	-	3	679	c.379C>G	c.(379-381)CCA>GCA	p.P127A		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	127	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CTGGTGGATGGGTAGTTCATG	0.498													C	165389170	G	C	165389170	3	2	106	1	0	0	0	0	1	0	0	0	13765	1232	43	5	1044	5	RXRG	1	165389170	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	9492677	165389170	83861451	8	73410											
RXRG	6258	broad.mit.edu	37	chr1	165397991	165397991	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggcaaccaagttgattcctgGaggcgctgcaagtgctcctg	13	11	0	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:165397991G>T	uc001gda.2	-	2	562	c.262C>A	c.(262-264)CCA>ACA	p.P88T		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	88	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	TTGATTCCTGGAGGCGCTGCA	0.587													T	165397991	G	T	165397991	3	4	106	1	0	0	0	0	1	0	0	0	13765	1174	41	5	1165	5	RXRG	1	165397991	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	8821	165397991	83852630	9	73411											
C1orf14	81626	broad.mit.edu	37	chr1	182873396	182873396	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgttccttcacattttaaTatgcagttttctagagtcat	5	9	3	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:182873396T>A	uc001gpu.2	-	8	1791	c.1506A>T	c.(1504-1506)ATA>ATT	p.I502I	C1orf14_uc001gpv.2_Silent_p.I383I|C1orf14_uc010pnz.1_Silent_p.I360I|C1orf14_uc001gpw.2_Silent_p.I222I	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	574	PbH1 1.										0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)		CACATTTTAATATGCAGTTTT	0.408													A	182873396	T	A	182873396	2	1	106	1	0	0	0	0	0	0	0	1	2000	1396	49	5		5	C1orf14	1	182873396	Silent	SNP	T	TCGA-BR-8683-01A-11D-2394-08	17475405	182873396	66377225	10	73412											
KCNT2	343450	broad.mit.edu	37	chr1	196227467	196227467	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagagtgttttgggccttttCtgctcagtcttcgggcccac	11	12	3	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:196227467C>G	uc001gtd.1	-	26	3128	c.3068G>C	c.(3067-3069)AGA>ACA	p.R1023T	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.R956T|KCNT2_uc001gtf.1_Missense_Mutation_p.R999T|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Missense_Mutation_p.R527T	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1023	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						TGGGCCTTTTCTGCTCAGTCT	0.522													G	196227467	C	G	196227467	3	3	106	1	0	0	0	0	1	0	0	0	8092	913	32	5	351	5	KCNT2	1	196227467	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	13354071	196227467	53023154	11	73413											
CFHR3	10878	broad.mit.edu	37	chr1	196744033	196744033	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taacatgttgttactaatcaAtgtcattctgaccttgtggg	8	7	3	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:196744033A>G	uc001gtl.2	+	1	104	c.17A>G	c.(16-18)AAT>AGT	p.N6S	CFHR3_uc001gtk.2_Missense_Mutation_p.N6S|CFHR3_uc010poy.1_Missense_Mutation_p.N6S	NM_021023	NP_066303	Q02985	FHR3_HUMAN	complement factor H-related 3 precursor	6						extracellular space					0						TTACTAATCAATGTCATTCTG	0.338													G	196744033	A	G	196744033	3	3	106	1	0	0	0	0	1	0	0	0	3286	101	4	3	19	3	CFHR3	1	196744033	Missense_Mutation	SNP	A	TCGA-BR-8683-01A-11D-2394-08	516566	196744033	52506588	12	73414											
F13B	2165	broad.mit.edu	37	chr1	197019844	197019844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctaaacacaatggtggtGtagtccacattccatctaaa	6	10	1	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:197019844G>A	uc001gtt.1	-	10	1765	c.1721C>T	c.(1720-1722)ACA>ATA	p.T574I		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	574	Sushi 9.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						CAATGGTGGTGTAGTCCACAT	0.338													A	197019844	G	A	197019844	3	1	106	1	0	0	0	0	1	0	0	0	5341	1377	48	4	276	4	F13B	1	197019844	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	275811	197019844	52230777	13	73415											
KIF14	9928	broad.mit.edu	37	chr1	200571084	200571084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgttgactattaaacgggCttggttagcatatctaagtg	10	5	1	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:200571084C>T	uc010ppk.1	-	11	2531	c.2092G>A	c.(2092-2094)GCC>ACC	p.A698T	KIF14_uc010ppj.1_Missense_Mutation_p.A207T	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	698					microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						ATTAAACGGGCTTGGTTAGCA	0.353													T	200571084	C	T	200571084	3	4	106	1	0	0	0	0	1	0	0	0	8276	797	28	2	2934	2	KIF14	1	200571084	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	3551240	200571084	48679537	14	73416											
PKP1	5317	broad.mit.edu	37	chr1	201291173	201291173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgccgaggtgcccacccGctaccgccagctggagtata	13	15	0	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:201291173G>A	uc001gwd.2	+	9	1729	c.1478G>A	c.(1477-1479)CGC>CAC	p.R493H	PKP1_uc001gwe.2_Missense_Mutation_p.R472H|PKP1_uc009wzm.2_Missense_Mutation_p.R80H	NM_000299	NP_000290	Q13835	PKP1_HUMAN	plakophilin 1 isoform 1b	493					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			ovary(2)	2						GTGCCCACCCGCTACCGCCAG	0.597													A	201291173	G	A	201291173	3	1	106	1	0	0	0	0	1	0	0	0	11984	1087	38	1	1512	1	PKP1	1	201291173	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	720089	201291173	47959448	15	73417											
PPP1R12B	4660	broad.mit.edu	37	chr1	202464542	202464542	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctatggacaaatagattttCagtccctgattctgagagtt	9	7	2	3			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:202464542C>T	uc001gya.1	+	16	2411	c.2267C>T	c.(2266-2268)TCA>TTA	p.S756L	PPP1R12B_uc001gxz.1_Missense_Mutation_p.S756L|PPP1R12B_uc001gyb.1_5'UTR|PPP1R12B_uc001gyc.1_5'UTR	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	756					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			AATAGATTTTCAGTCCCTGAT	0.478													T	202464542	C	T	202464542	3	4	106	1	0	0	0	0	1	0	0	0	12355	838	29	4	2419	4	PPP1R12B	1	202464542	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	1173369	202464542	46786079	16	73418											
LRRN2	10446	broad.mit.edu	37	chr1	204587896	204587896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccggaagggcacctcacGgaccgggaggcgctggaggt	17	13	1	0	rs141763834		TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:204587896G>A	uc001hbe.1	-	3	1613	c.1225C>T	c.(1225-1227)CGT>TGT	p.R409C	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.R409C|LRRN2_uc009xbf.1_Missense_Mutation_p.R409C|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	409	Extracellular (Potential).|LRRCT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGCACCTCACGGACCGGGAGG	0.657													A	204587896	G	A	204587896	3	1	106	1	0	0	0	0	1	0	0	0	9035	1116	39	1	920	1	LRRN2	1	204587896	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	2123354	204587896	44662725	17	73419											
GPR137B	7107	broad.mit.edu	37	chr1	236306163	236306163	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggctcagctaccagagcgtcTtcctctttctctgcctcttc	7	16	5	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:236306163T>A	uc001hxq.2	+	1	332	c.241T>A	c.(241-243)TTC>ATC	p.F81I		NM_003272	NP_003263	O60478	G137B_HUMAN	G protein-coupled receptor 137B	81	Helical; (Potential).					integral to plasma membrane|membrane fraction					0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CCAGAGCGTCTTCCTCTTTCT	0.582													A	236306163	T	A	236306163	3	1	106	1	0	0	0	0	1	0	0	0	6646	1609	56	5	243	5	GPR137B	1	236306163	Missense_Mutation	SNP	T	TCGA-BR-8683-01A-11D-2394-08	31718267	236306163	12944458	18	73420											
RYR2	6262	broad.mit.edu	37	chr1	237838114	237838114	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaactcattcgctatgTggatgaagcccatcagtata	7	11	2	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:237838114T>A	uc001hyl.1	+	60	8918	c.8798T>A	c.(8797-8799)GTG>GAG	p.V2933E	RYR2_uc010pxz.1_5'UTR	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2933	Modulator (Potential).|Cytoplasmic (By similarity).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTCGCTATGTGGATGAAGCC	0.413													A	237838114	T	A	237838114	3	1	106	1	0	0	0	0	1	0	0	0	13769	1696	59	5	9036	5	RYR2	1	237838114	Missense_Mutation	SNP	T	TCGA-BR-8683-01A-11D-2394-08	1531951	237838114	11412507	19	73421											
FAM110C	642273	broad.mit.edu	37	chr2	46121	46121	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caacggcttccgcgcaatagCcctgcgcgccaccggggccg	13	18	0	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:46121C>G	uc010yim.1	-	1	265	c.265G>C	c.(265-267)GCT>CCT	p.A89P		NM_001077710	NP_001071178	Q1W6H9	F110C_HUMAN	hypothetical protein LOC642273	89						microtubule|microtubule organizing center|spindle pole					0	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		CGCGCAATAGCCCTgcgcgcc	0.562													G	46121	C	G	46121	3	3	106	1	0	0	0	0	1	0	0	0	5398	739	26	5	708	5	FAM110C	2	46121	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08		46121	243153252	20	73422											
MFSD2B	388931	broad.mit.edu	37	chr2	24240392	24240392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgggctcatcgtgtccggCgcccacagaccccacaggtg	12	17	1	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:24240392C>T	uc002reo.1	+	6	629	c.615C>T	c.(613-615)GGC>GGT	p.G205G	MFSD2B_uc010exz.1_RNA	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing	205	Helical; (Potential).				transport	integral to membrane				ovary(2)	2						TCGTGTCCGGCGCCCACAGAC	0.647													T	24240392	C	T	24240392	2	4	106	1	0	0	0	0	0	0	0	1	9531	755	27	1		1	MFSD2B	2	24240392	Silent	SNP	C	TCGA-BR-8683-01A-11D-2394-08	24194271	24240392	218958981	21	73423											
SRD5A2	6716	broad.mit.edu	37	chr2	31754396	31754396	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatggtggtgaaaagctcGcagcccaaggaaacaaagtg	12	9	0	1	rs121434248		TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:31754396G>A	uc002rnw.1	-	5	750	c.679C>T	c.(679-681)CGA>TGA	p.R227*		NM_000348	NP_000339	P31213	S5A2_HUMAN	3-oxo-5 alpha-steroid 4-dehydrogenase 2	227					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity				0	Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	TGAAAAGCTCGCAGCCCAAGG	0.463													A	31754396	G	A	31754396	4	1	106	1	0	0	0	0	0	1	0	0	15138	1095	38	1	93	1	SRD5A2	2	31754396	Nonsense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	7514004	31754396	211444977	22	73424											
PLEKHH2	130271	broad.mit.edu	37	chr2	43922307	43922307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggagaatcagaatcttcGtttgatcaaccaaaaccaaa	6	8	3	3			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:43922307G>A	uc010yny.1	+	6	529	c.446G>A	c.(445-447)CGT>CAT	p.R149H	PLEKHH2_uc002rte.3_Missense_Mutation_p.R149H|PLEKHH2_uc002rtf.3_Missense_Mutation_p.R149H	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	149	Potential.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAGAATCTTCGTTTGATCAAC	0.259													A	43922307	G	A	43922307	3	1	106	1	0	0	0	0	1	0	0	0	12077	1145	40	1	464	1	PLEKHH2	2	43922307	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	12167911	43922307	199277066	23	73425											
USP34	9736	broad.mit.edu	37	chr2	61493232	61493232	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgaagaatgtgatttgCactttggctgttgtcggtcc	11	8	1	3			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:61493232C>A	uc002sbe.2	-	42	5526	c.5504G>T	c.(5503-5505)TGC>TTC	p.C1835F	USP34_uc002sbf.2_5'UTR	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	1835					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			ATGTGATTTGCACTTTGGCTG	0.408													A	61493232	C	A	61493232	3	1	106	1	0	0	0	0	1	0	0	0	17062	710	25	5	5292	5	USP34	2	61493232	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	17570925	61493232	181706141	24	73426											
EHBP1	23301	broad.mit.edu	37	chr2	63085542	63085542	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gactggcttctgtttacagaAattgtaaaccagttgaatgc	9	7	1	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:63085542A>T	uc002sby.2	+	8	1118	c.636A>T	c.(634-636)GAA>GAT	p.E212D	EHBP1_uc010fcp.2_Intron|EHBP1_uc002sbx.2_Intron|EHBP1_uc002sbz.2_Intron|EHBP1_uc002scb.2_Intron	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	212				E -> G (in Ref. 2; AAQ97141 and 3; CAD38814).		cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TGTTTACAGAAATTGTAAACC	0.383									Hereditary_Prostate_Cancer				T	63085542	A	T	63085542	3	4	106	1	0	0	0	0	1	0	0	0	4975	28	1	5	662	5	EHBP1	2	63085542	Missense_Mutation	SNP	A	TCGA-BR-8683-01A-11D-2394-08	1592310	63085542	180113831	25	73427											
SMYD5	10322	broad.mit.edu	37	chr2	73446046	73446046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagaccatcttcgtagaaCggcccctggtggctgcacag	14	12	1	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:73446046C>T	uc002siw.2	+	2	183	c.154C>T	c.(154-156)CGG>TGG	p.R52W	SMYD5_uc010yre.1_Translation_Start_Site	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	52							metal ion binding				0						CTTCGTAGAACGGCCCCTGGT	0.542													T	73446046	C	T	73446046	3	4	106	1	0	0	0	0	1	0	0	0	14825	527	19	1	160	1	SMYD5	2	73446046	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	10360504	73446046	169753327	26	73428											
ZC3H8	84524	broad.mit.edu	37	chr2	112991747	112991747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaatttgttttcccttgcGttccactgtatgttggttga	8	8	0	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:112991747G>A	uc002thp.2	-	5	677	c.571C>T	c.(571-573)CGC>TGC	p.R191C		NM_032494	NP_115883	Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	191	C3H1-type 1.				apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis	nucleus	RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TTTCCCTTGCGTTCCACTGTA	0.303													A	112991747	G	A	112991747	3	1	106	1	0	0	0	0	1	0	0	0	17571	1145	40	1	320	1	ZC3H8	2	112991747	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	39545701	112991747	130207626	27	73429											
POLR1B	84172	broad.mit.edu	37	chr2	113322007	113322007	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctaccctgtcctgctggaCggtgtcatggttggctgggt	15	10	1	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:113322007C>T	uc002thw.2	+	10	2257	c.1677C>T	c.(1675-1677)GAC>GAT	p.D559D	POLR1B_uc010fkn.2_Silent_p.D503D|POLR1B_uc002thx.2_Silent_p.D420D|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Translation_Start_Site|POLR1B_uc010yxn.1_Silent_p.D597D|POLR1B_uc002thy.2_Silent_p.D420D|POLR1B_uc010yxo.1_Silent_p.D336D	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	559					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1						TCCTGCTGGACGGTGTCATGG	0.502													T	113322007	C	T	113322007	2	4	106	1	0	0	0	0	0	0	0	1	12210	535	19	1		1	POLR1B	2	113322007	Silent	SNP	C	TCGA-BR-8683-01A-11D-2394-08	330260	113322007	129877366	28	73430											
LRP1B	53353	broad.mit.edu	37	chr2	141819691	141819691	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcccacatagtccaagtaaaGatctacccagtaaaccaatt	4	12	1	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:141819691G>T	uc002tvj.1	-	8	2137	c.1165C>A	c.(1165-1167)CTT>ATT	p.L389I	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	389	Extracellular (Potential).|LDL-receptor class B 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCAAGTAAAGATCTACCCAG	0.423										TSP Lung(27;0.18)			T	141819691	G	T	141819691	3	4	106	1	0	0	0	0	1	0	0	0	8955	942	33	5	12970	5	LRP1B	2	141819691	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	28497684	141819691	101379682	29	73431											
ZEB2	9839	broad.mit.edu	37	chr2	145161588	145161588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttctcttcattcttctcGtggcggtacttgatgtgctc	9	10	4	1	rs140169964		TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:145161588G>A	uc002tvu.2	-	6	1182	c.702C>T	c.(700-702)CAC>CAT	p.H234H	ZEB2_uc002tvv.2_Silent_p.H228H|ZEB2_uc010zbm.1_Silent_p.H205H|ZEB2_uc010fnp.2_Silent_p.H142H|ZEB2_uc010fnq.1_Silent_p.H263H	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	234	C2H2-type 1.					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		CATTCTTCTCGTGGCGGTACT	0.557													A	145161588	G	A	145161588	2	1	106	1	0	0	0	0	0	0	0	1	17621	1136	40	1		1	ZEB2	2	145161588	Silent	SNP	G	TCGA-BR-8683-01A-11D-2394-08	3341897	145161588	98037785	30	73432											
KCNH7	90134	broad.mit.edu	37	chr2	163393500	163393500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagcgttttcattatccGtcacatattcaaaattaatg	6	8	3	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:163393500G>A	uc002uch.1	-	3	610	c.398C>T	c.(397-399)ACG>ATG	p.T133M	KCNH7_uc002uci.2_Missense_Mutation_p.T133M	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	133	Cytoplasmic (Potential).|PAC.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	TTCATTATCCGTCACATATTC	0.388													A	163393500	G	A	163393500	3	1	106	1	0	0	0	0	1	0	0	0	8037	1145	40	1	3314	1	KCNH7	2	163393500	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	18231912	163393500	79805873	31	73433											
TTN	7273	broad.mit.edu	37	chr2	179402500	179402500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagacattttgtatttcCggctttgtatgagctcttta	8	7	1	3			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:179402500C>A	uc010zfg.1	-	304	91954	c.91730G>T	c.(91729-91731)CGG>CTG	p.R30577L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R24272L|TTN_uc010zfi.1_Missense_Mutation_p.R24205L|TTN_uc010zfj.1_Missense_Mutation_p.R24080L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31504							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTATTTCCGGCTTTGTAT	0.428													A	179402500	C	A	179402500	3	1	106	1	0	0	0	0	1	0	0	0	16732	652	23	5	8577	5	TTN	2	179402500	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	16009000	179402500	63796873	32	73434											
TTN	7273	broad.mit.edu	37	chr2	179452842	179452842	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctcatttccacaacatatcCaatgatcggtgcaccaccat	4	14	1	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:179452842C>G	uc010zfg.1	-	254	55812	c.55588G>C	c.(55588-55590)GGA>CGA	p.G18530R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G12225R|TTN_uc010zfi.1_Missense_Mutation_p.G12158R|TTN_uc010zfj.1_Missense_Mutation_p.G12033R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19457							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAACATATCCAATGATCGGT	0.463													G	179452842	C	G	179452842	3	3	106	1	0	0	0	0	1	0	0	0	16732	603	21	5	44919	5	TTN	2	179452842	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	50342	179452842	63746531	33	73435											
TTN	7273	broad.mit.edu	37	chr2	179483457	179483457	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatggtttttgtagataaaGgttcattttctttaaaccat	6	5	2	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:179483457G>T	uc010zfg.1	-	200	39340	c.39116C>A	c.(39115-39117)CCT>CAT	p.P13039H	TTN_uc010zfh.1_Missense_Mutation_p.P6734H|TTN_uc010zfi.1_Missense_Mutation_p.P6667H|TTN_uc010zfj.1_Missense_Mutation_p.P6542H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13966							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTAGATAAAGGTTCATTTTC	0.408													T	179483457	G	T	179483457	3	4	106	1	0	0	0	0	1	0	0	0	16732	1000	35	5	61321	5	TTN	2	179483457	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	30615	179483457	63715916	34	73436											
CALCRL	10203	broad.mit.edu	37	chr2	188225342	188225342	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taccccagccaagaaaataaTaccacattaaatgttgcttc	4	11	0	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:188225342T>A	uc002upv.3	-	10	1312	c.764A>T	c.(763-765)TAT>TTT	p.Y255F	CALCRL_uc010frt.2_Missense_Mutation_p.Y255F	NM_005795	NP_005786	Q16602	CALRL_HUMAN	calcitonin receptor-like precursor	255	Helical; Name=4; (Potential).					integral to plasma membrane				lung(3)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			AAGAAAATAATACCACATTAA	0.393													A	188225342	T	A	188225342	3	1	106	1	0	0	0	0	1	0	0	0	2580	1406	49	5	645	5	CALCRL	2	188225342	Missense_Mutation	SNP	T	TCGA-BR-8683-01A-11D-2394-08	8741885	188225342	54974031	35	73437											
CCDC108	255101	broad.mit.edu	37	chr2	219875581	219875581	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaagacccgggcagtgctGcctggctggatctccccttt	11	15	1	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:219875581G>T	uc002vjl.1	-	25	4179	c.4095C>A	c.(4093-4095)GGC>GGA	p.G1365G		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1365						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCAGTGCTGCCTGGCTGGA	0.552													T	219875581	G	T	219875581	2	4	106	1	0	0	0	0	0	0	0	1	2743	1306	46	5		5	CCDC108	2	219875581	Silent	SNP	G	TCGA-BR-8683-01A-11D-2394-08	31650239	219875581	23323792	36	73438											
PAX3	5077	broad.mit.edu	37	chr2	223086025	223086025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtgggagggaacccccCgggaatgagatggttgaaag	18	7	0	2	rs142651003		TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:223086025C>T	uc010fwo.2	-	6	1240	c.874G>A	c.(874-876)GGG>AGG	p.G292R	PAX3_uc002vmt.1_Missense_Mutation_p.G292R|PAX3_uc002vmy.1_Missense_Mutation_p.G291R|PAX3_uc002vmv.1_Missense_Mutation_p.G292R|PAX3_uc002vmw.1_Missense_Mutation_p.G292R|PAX3_uc002vmx.1_Missense_Mutation_p.G292R	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	292					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGAACCCCCCGGGAATGAGA	0.527			T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						T	223086025	C	T	223086025	3	4	106	1	0	0	0	0	1	0	0	0	11480	652	23	1	691	1	PAX3	2	223086025	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	3210444	223086025	20113348	37	73439											
XPC	7508	broad.mit.edu	37	chr3	14200141	14200141	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccggccatgcggacgtcgCtgggttgccttctcctgctt	12	15	1	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr3:14200141C>T	uc011ave.1	-	9	1346	c.1242G>A	c.(1240-1242)CAG>CAA	p.Q414Q	XPC_uc011avf.1_Silent_p.Q221Q|XPC_uc011avg.1_Silent_p.Q377Q	NM_004628	NP_004619	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	414	Arg/Lys-rich (basic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			ovary(2)|breast(1)	3						GCGGACGTCGCTGGGTTGCCT	0.602			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		NER	Xeroderma_Pigmentosum				T	14200141	C	T	14200141	2	4	106	1	0	0	0	0	0	0	0	1	17438	796	28	2		2	XPC	3	14200141	Silent	SNP	C	TCGA-BR-8683-01A-11D-2394-08		14200141	183822289	38	73440											
HIGD1A	25994	broad.mit.edu	37	chr3	42827591	42827591	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagatgaatggacattttaGtatttcccctgctcttcagt	7	9	3	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr3:42827591G>T	uc003cma.3	-	3	307	c.161C>A	c.(160-162)ACT>AAT	p.T54N	HIGD1A_uc010hid.2_Missense_Mutation_p.T68N|HIGD1A_uc003cmb.3_Missense_Mutation_p.T54N	NM_001099669	NP_001093139	Q9Y241	HIG1A_HUMAN	HIG1 domain family, member 1A isoform b	54	Extracellular (Potential).|HIG1.				response to stress	integral to membrane|protein complex	protein binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GGACATTTTAGTATTTCCCCT	0.393													T	42827591	G	T	42827591	3	4	106	1	0	0	0	0	1	0	0	0	7106	1029	36	5	128	5	HIGD1A	3	42827591	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	28627450	42827591	155194839	39	73441											
SNTN	132203	broad.mit.edu	37	chr3	63645450	63645450	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctattgccaccactgctctGattttcagaaattcttctga	6	11	4	3			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr3:63645450G>A	uc003dlr.2	+	3	215	c.195G>A	c.(193-195)CTG>CTA	p.L65L		NM_001080537	NP_001074006	A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	65						cilium	calcium ion binding			ovary(1)	1						CCACTGCTCTGATTTTCAGAA	0.398													A	63645450	G	A	63645450	2	1	106	1	0	0	0	0	0	0	0	1	14876	1277	45	4		4	SNTN	3	63645450	Silent	SNP	G	TCGA-BR-8683-01A-11D-2394-08	20817859	63645450	134376980	40	73442											
VGLL3	389136	broad.mit.edu	37	chr3	87027812	87027812	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccctggaaataagtgaaaagGacacagcgagagttaaggta	12	6	0	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr3:87027812G>T	uc003dqn.2	-	2	631	c.267C>A	c.(265-267)GTC>GTA	p.V89V		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AAGTGAAAAGGACACAGCGAG	0.403													T	87027812	G	T	87027812	2	4	106	1	0	0	0	0	0	0	0	1	17157	1161	41	5		5	VGLL3	3	87027812	Silent	SNP	G	TCGA-BR-8683-01A-11D-2394-08	23382362	87027812	110994618	41	73443											
MRPL3	11222	broad.mit.edu	37	chr3	131181615	131181615	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgacacacgttttcatcAtacaaatcttctggcagttc	7	11	4	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr3:131181615A>G	uc003eoh.2	-	10	1163	c.999T>C	c.(997-999)TAT>TAC	p.Y333Y	MRPL3_uc011blo.1_Silent_p.Y228Y|MRPL3_uc011blp.1_Silent_p.Y360Y	NM_007208	NP_009139	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	333					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome				0						CGTTTTCATCATACAAATCTT	0.428													G	131181615	A	G	131181615	2	3	106	1	0	0	0	0	0	0	0	1	9793	224	8	3		3	MRPL3	3	131181615	Silent	SNP	A	TCGA-BR-8683-01A-11D-2394-08	44153803	131181615	66840815	42	73444											
DNAJC13	23317	broad.mit.edu	37	chr3	132244599	132244599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgccattcctaagagtgCcattcgggttatccatgcct	8	12	0	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr3:132244599C>T	uc003eor.2	+	52	6271	c.6206C>T	c.(6205-6207)GCC>GTC	p.A2069V		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2069							heat shock protein binding			ovary(1)|breast(1)	2						CCTAAGAGTGCCATTCGGGTT	0.448													T	132244599	C	T	132244599	3	4	106	1	0	0	0	0	1	0	0	0	4632	739	26	2	6408	2	DNAJC13	3	132244599	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	1062984	132244599	65777831	43	73445											
CPB1	1360	broad.mit.edu	37	chr3	148545851	148545851	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taacataatccgcgagttggCcagcacgacccaggtaagta	10	11	0	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr3:148545851C>A	uc003ewl.2	+	2	157	c.134C>A	c.(133-135)GCC>GAC	p.A45D		NM_001871	NP_001862	P15086	CBPB1_HUMAN	pancreatic carboxypeptidase B1 preproprotein	45					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CGCGAGTTGGCCAGCACGACC	0.358													A	148545851	C	A	148545851	3	1	106	1	0	0	0	0	1	0	0	0	3796	739	26	5	140	5	CPB1	3	148545851	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	16301252	148545851	49476579	44	73446											
IGSF10	285313	broad.mit.edu	37	chr3	151155396	151155396	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaacacgctctctccacctTcatttcgggccacacagata	5	17	2	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr3:151155396T>C	uc011bod.1	-	6	6953	c.6953A>G	c.(6952-6954)GAA>GGA	p.E2318G	IGSF10_uc011bob.1_Missense_Mutation_p.E345G|IGSF10_uc011boc.1_Missense_Mutation_p.E297G	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	2318	Ig-like C2-type 9.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCTCCACCTTCATTTCGGGC	0.413													C	151155396	T	C	151155396	3	2	106	1	0	0	0	0	1	0	0	0	7597	1783	62	3	922	3	IGSF10	3	151155396	Missense_Mutation	SNP	T	TCGA-BR-8683-01A-11D-2394-08	2609545	151155396	46867034	45	73447											
SI	6476	broad.mit.edu	37	chr3	164783102	164783102	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccatgttttccaggataaatCatgacgaaatctcttatgaa	6	8	2	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr3:164783102C>A	uc003fei.2	-	7	816	c.754G>T	c.(754-756)GAT>TAT	p.D252Y		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	252	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAGGATAAATCATGACGAAAT	0.348										HNSCC(35;0.089)			A	164783102	C	A	164783102	3	1	106	1	0	0	0	0	1	0	0	0	14297	826	29	5	4897	5	SI	3	164783102	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	13627706	164783102	33239328	46	73448											
GHSR	2693	broad.mit.edu	37	chr3	172165569	172165569	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctggacacccacaccatgAccgtgagcagtccagagcgc	11	15	0	3			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr3:172165569A>G	uc003fib.1	-	1	635	c.635T>C	c.(634-636)GTC>GCC	p.V212A	GHSR_uc011bpv.1_Missense_Mutation_p.V212A	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	212	Helical; Name=5; (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			lung(3)|ovary(1)|central_nervous_system(1)	5	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCACACCATGACCGTGAGCAG	0.622													G	172165569	A	G	172165569	3	3	106	1	0	0	0	0	1	0	0	0	6375	275	10	3	547	3	GHSR	3	172165569	Missense_Mutation	SNP	A	TCGA-BR-8683-01A-11D-2394-08	7382467	172165569	25856861	47	73449											
ALG3	10195	broad.mit.edu	37	chr3	183963008	183963008	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaagcagcaaccccagcCccagcgctgggccagcagga	12	15	0	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr3:183963008C>A	uc003fne.2	-	4	614	c.583G>T	c.(583-585)GGC>TGC	p.G195C	ALG3_uc011brc.1_Missense_Mutation_p.G160C|ALG3_uc011brd.1_Missense_Mutation_p.G139C|ALG3_uc011bre.1_Missense_Mutation_p.G147C|ALG3_uc003fnf.1_Missense_Mutation_p.G155C|ALG3_uc011brf.1_Missense_Mutation_p.G87C	NM_005787	NP_005778	Q92685	ALG3_HUMAN	alpha-1,3-mannosyltransferase ALG3 isoform a	195					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity				0	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAACCCCAGCCCCAGCGCTGG	0.547													A	183963008	C	A	183963008	3	1	106	1	0	0	0	0	1	0	0	0	520	623	22	5	757	5	ALG3	3	183963008	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	11797439	183963008	14059422	48	73450											
SCFD2	152579	broad.mit.edu	37	chr4	53752026	53752026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagtcactaggatgaggcCggctcacctgcaaaacaaaa	11	10	2	1	rs141706393		TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr4:53752026C>T	uc003gzu.2	-	8	1984	c.1850G>A	c.(1849-1851)CGG>CAG	p.R617Q	SCFD2_uc010igm.2_Missense_Mutation_p.R572Q	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	617					protein transport|vesicle docking involved in exocytosis					ovary(2)|pancreas(1)	3			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGGATGAGGCCGGCTCACCTG	0.498													T	53752026	C	T	53752026	3	4	106	1	0	0	0	0	1	0	0	0	13890	652	23	1	212	1	SCFD2	4	53752026	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08		53752026	137402250	49	73451											
KIT	3815	broad.mit.edu	37	chr4	55589833	55589833	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gattcccagagcccacaataGattggtatttttgtccagga	9	9	0	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr4:55589833G>C	uc010igr.2	+	8	1402	c.1315G>C	c.(1315-1317)GAT>CAT	p.D439H	KIT_uc010igs.2_Missense_Mutation_p.D439H	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	439	Extracellular (Potential).|Ig-like C2-type 5.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCCCACAATAGATTGGTATTT	0.438		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				C	55589833	G	C	55589833	3	2	106	1	0	0	0	0	1	0	0	0	8329	942	33	5	1345	5	KIT	4	55589833	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	1837807	55589833	135564443	50	73452											
PDE5A	8654	broad.mit.edu	37	chr4	120442088	120442088	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgaatggctctaaaaagtAcctgaattttgcctgctttt	7	7	1	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr4:120442088A>C	uc003idh.2	-	13	2060	c.1905_splice	c.e13+1	p.Q635_splice	uc003ide.3_Intron|PDE5A_uc003idf.2_Splice_Site_p.Q593_splice|PDE5A_uc003idg.2_Splice_Site_p.Q583_splice|uc003idi.3_Intron	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1						platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	TCTAAAAAGTACCTGAATTTT	0.318													C	120442088	A	C	120442088	5	2	106	1	0	0	0	0	0	0	1	0	11644	405	14	5	756	5	PDE5A	4	120442088	Splice_Site	SNP	A	TCGA-BR-8683-01A-11D-2394-08	64852255	120442088	70712188	51	73453											
KIAA1109	84162	broad.mit.edu	37	chr4	123260416	123260416	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caagagtagaatgcatgttaAagctgccatccctggatttg	10	8	0	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr4:123260416A>T	uc003ieh.2	+	70	12250	c.12205A>T	c.(12205-12207)AAG>TAG	p.K4069*	KIAA1109_uc003iem.2_Nonsense_Mutation_p.K425*|KIAA1109_uc003ien.2_Nonsense_Mutation_p.K3*	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4069					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ATGCATGTTAAAGCTGCCATC	0.413													T	123260416	A	T	123260416	4	4	106	1	0	0	0	0	0	1	0	0	8208	15	1	5	12483	5	KIAA1109	4	123260416	Nonsense_Mutation	SNP	A	TCGA-BR-8683-01A-11D-2394-08	2818328	123260416	67893860	52	73454											
ANKRD50	57182	broad.mit.edu	37	chr4	125590991	125590991	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtaaaccacgtaacgaaggCtgcatatcccctccaccagt	8	14	0	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr4:125590991C>G	uc003ifg.3	-	3	3707	c.3441G>C	c.(3439-3441)CAG>CAC	p.Q1147H	ANKRD50_uc011cgo.1_Missense_Mutation_p.Q968H|ANKRD50_uc010inw.2_Missense_Mutation_p.Q1147H	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1147	Ser-rich.									central_nervous_system(1)	1						GTAACGAAGGCTGCATATCCC	0.423													G	125590991	C	G	125590991	3	3	106	1	0	0	0	0	1	0	0	0	677	796	28	5	852	5	ANKRD50	4	125590991	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	2330575	125590991	65563285	53	73455											
PCDH18	54510	broad.mit.edu	37	chr4	138452108	138452108	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaactctgaccaaagcaaCaaatgtatcaataggatccc	6	11	2	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr4:138452108C>A	uc003ihe.3	-	1	1522	c.1135G>T	c.(1135-1137)GTT>TTT	p.V379F	PCDH18_uc003ihf.3_Missense_Mutation_p.V372F|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.V159F|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	379	Cadherin 4.|Extracellular (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					ACCAAAGCAACAAATGTATCA	0.363													A	138452108	C	A	138452108	3	1	106	1	0	0	0	0	1	0	0	0	11513	478	17	5	2288	5	PCDH18	4	138452108	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	12861117	138452108	52702168	54	73456											
PAPD7	11044	broad.mit.edu	37	chr5	6752990	6752990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcattttgttcctagaccaGgtttactatacctccaccga	5	13	1	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:6752990G>A	uc003jdx.1	+	12	1403	c.1274G>A	c.(1273-1275)AGG>AAG	p.R425K	PAPD7_uc011cmn.1_Missense_Mutation_p.R416K|PAPD7_uc010itl.1_Missense_Mutation_p.R245K	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	425					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			ovary(1)	1						TCCTAGACCAGGTTTACTATA	0.507													A	6752990	G	A	6752990	3	1	106	1	0	0	0	0	1	0	0	0	11426	1000	35	4	1316	4	PAPD7	5	6752990	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08		6752990	174162270	55	73457											
FAM134B	54463	broad.mit.edu	37	chr5	16477850	16477850	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtccaggatacctctgagacGtctgtgtcagacacagataa	10	10	3	3			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:16477850G>C	uc003jfs.2	-	8	959	c.921C>G	c.(919-921)GAC>GAG	p.D307E	FAM134B_uc003jfr.2_Missense_Mutation_p.D166E	NM_001034850	NP_001030022	Q9H6L5	F134B_HUMAN	hypothetical protein LOC54463 isoform 1	307					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3						CCTCTGAGACGTCTGTGTCAG	0.423													C	16477850	G	C	16477850	3	2	106	1	0	0	0	0	1	0	0	0	5446	1136	40	5	580	5	FAM134B	5	16477850	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	9724860	16477850	164437410	56	73458											
MYO10	4651	broad.mit.edu	37	chr5	16780678	16780678	+	Frame_Shift_Del	DEL	G	G	-													cagcagtgcataaaatatgtGataattcctttccccgggat							TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:16780678delG	uc003jft.3	-	8	1249	c.781delC	c.(781-783)CACfs	p.H261fs		NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	261	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						TAAAATATGTGATAATTCCTT	0.413													-	16780678	G	-	16780678	7	5	106	1	0	1	0	1	0	0	0	0	10062	1290	45	0	5531	0	MYO10	5	16780678	Frame_Shift_Del	DEL	G	TCGA-BR-8683-01A-11D-2394-08	302828	16780678	164134582	57	73459											
HCN1	348980	broad.mit.edu	37	chr5	45262712	45262712	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacaccggtggagattgtgTcctcatgcgggaggtcgggg	18	8	1	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:45262712T>C	uc003jok.2	-	8	2009	c.1984A>G	c.(1984-1986)ACA>GCA	p.T662A		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	662	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						GGAGATTGTGTCCTCATGCGG	0.572													C	45262712	T	C	45262712	3	2	106	1	0	0	0	0	1	0	0	0	6996	1667	58	3	692	3	HCN1	5	45262712	Missense_Mutation	SNP	T	TCGA-BR-8683-01A-11D-2394-08	28482034	45262712	135652548	58	73460											
FAM81B	153643	broad.mit.edu	37	chr5	94756050	94756050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaactaactttgcagtacaCgagataaacatcaaacacct	6	10	1	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:94756050C>T	uc003kla.1	+	5	646	c.600C>T	c.(598-600)CAC>CAT	p.H200H	FAM81B_uc010jbe.1_Translation_Start_Site	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	hypothetical protein LOC153643	200										ovary(1)|skin(1)	2		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TTGCAGTACACGAGATAAACA	0.403													T	94756050	C	T	94756050	2	4	106	1	0	0	0	0	0	0	0	1	5629	535	19	1		1	FAM81B	5	94756050	Silent	SNP	C	TCGA-BR-8683-01A-11D-2394-08	49493338	94756050	86159210	59	73461											
KIF20A	10112	broad.mit.edu	37	chr5	137521738	137521738	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaagttagaagagggccaGaaggtaattaccaccattct	10	7	1	4			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:137521738G>A	uc003lcj.2	+	17	2710	c.2214G>A	c.(2212-2214)CAG>CAA	p.Q738Q	KIF20A_uc011cyo.1_Silent_p.Q720Q	NM_005733	NP_005724	O95235	KI20A_HUMAN	kinesin family member 20A	738	Potential.				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAGAGGGCCAGAAGGTAATTA	0.428													A	137521738	G	A	137521738	2	1	106	1	0	0	0	0	0	0	0	1	8286	933	33	4		4	KIF20A	5	137521738	Silent	SNP	G	TCGA-BR-8683-01A-11D-2394-08	42765688	137521738	43393522	60	73462											
CXXC5	51523	broad.mit.edu	37	chr5	139060694	139060694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcctgacatggaggctGtggcaggtgccgaagccctc	15	13	0	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:139060694G>A	uc010jfg.1	+	2	876	c.586G>A	c.(586-588)GTG>ATG	p.V196M	CXXC5_uc003let.2_Missense_Mutation_p.V196M	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	CXXC finger 5	196					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATGGAGGCTGTGGCAGGTGC	0.627													A	139060694	G	A	139060694	3	1	106	1	0	0	0	0	1	0	0	0	4099	1377	48	4	588	4	CXXC5	5	139060694	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	1538956	139060694	41854566	61	73463											
PCDHA9	9752	broad.mit.edu	37	chr5	140230060	140230060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggggagccagcgctgacGgccacggccactgtgctggt	16	14	0	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:140230060G>A	uc003lhu.2	+	1	2704	c.1980G>A	c.(1978-1980)ACG>ACA	p.T660T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.T660T	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	660	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCGCTGACGGCCACGGCCA	0.697													A	140230060	G	A	140230060	2	1	106	1	0	0	0	0	0	0	0	1	11531	1103	39	1		1	PCDHA9	5	140230060	Silent	SNP	G	TCGA-BR-8683-01A-11D-2394-08	1169366	140230060	40685200	62	73464											
PCDHB1	29930	broad.mit.edu	37	chr5	140431602	140431602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtatttccacctgcacaccCgcttctgcagccacgggcct	9	17	1	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:140431602C>T	uc003lik.1	+	1	624	c.547C>T	c.(547-549)CGC>TGC	p.R183C		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	183	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCACACCCGCTTCTGCAG	0.562													T	140431602	C	T	140431602	3	4	106	1	0	0	0	0	1	0	0	0	11534	652	23	1	549	1	PCDHB1	5	140431602	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	201542	140431602	40483658	63	73465											
PCDHB3	56132	broad.mit.edu	37	chr5	140481581	140481581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtcaatgacaacgcccccGccttcacccaaatctcctac	4	19	3	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:140481581G>A	uc003lio.2	+	1	1348	c.1348G>A	c.(1348-1350)GCC>ACC	p.A450T	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	450	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACGCCCCCGCCTTCACCCA	0.562													A	140481581	G	A	140481581	3	1	106	1	0	0	0	0	1	0	0	0	11543	1087	38	1	1350	1	PCDHB3	5	140481581	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	49979	140481581	40433679	64	73466											
PCDHB5	26167	broad.mit.edu	37	chr5	140515027	140515027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctgaacaatggagactgCgctagcaaaaacgccacaga	11	10	1	3			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:140515027C>T	uc003liq.2	+	1	228	c.11C>T	c.(10-12)GCG>GTG	p.A4V		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	4					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGAGACTGCGCTAGCAAAA	0.458													T	140515027	C	T	140515027	3	4	106	1	0	0	0	0	1	0	0	0	11545	768	27	1	13	1	PCDHB5	5	140515027	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	33446	140515027	40400233	65	73467											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720421	140720421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacacgggcgaggtgcgcaCggcgcgagccctgctggaca	17	14	0	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:140720421C>T	uc003ljk.1	+	1	2068	c.1883C>T	c.(1882-1884)ACG>ATG	p.T628M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.T628M	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	628	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTGCGCACGGCGCGAGCC	0.682													T	140720421	C	T	140720421	3	4	106	1	0	0	0	0	1	0	0	0	11554	536	19	1	1885	1	PCDHGA2	5	140720421	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	205394	140720421	40194839	66	73468											
PCDHGB7	56099	broad.mit.edu	37	chr5	140798932	140798932	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagtcacgaacgctgtcGtcctacgtgtccgtgagcgc	13	13	1	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:140798932G>A	uc003lkn.1	+	1	1651	c.1506G>A	c.(1504-1506)TCG>TCA	p.S502S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Silent_p.S502S|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	502	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGCTGTCGTCCTACGTGT	0.657													A	140798932	G	A	140798932	2	1	106	1	0	0	0	0	0	0	0	1	11568	1132	40	1		1	PCDHGB7	5	140798932	Silent	SNP	G	TCGA-BR-8683-01A-11D-2394-08	78511	140798932	40116328	67	73469											
IL17B	27190	broad.mit.edu	37	chr5	148754069	148754069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcacgctcaccatgctgcGgtcctcctgcatggtgaagg	13	14	1	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:148754069G>A	uc003lqo.2	-	3	456	c.406C>T	c.(406-408)CGC>TGC	p.R136C		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	interleukin 17B precursor	136					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity	p.R136C(1)		central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCATGCTGCGGTCCTCCTGC	0.692													A	148754069	G	A	148754069	3	1	106	1	0	0	0	0	1	0	0	0	7635	1116	39	1	140	1	IL17B	5	148754069	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	7955137	148754069	32161191	68	73470											
GRIA1	2890	broad.mit.edu	37	chr5	153175110	153175110	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaaagcaaatggtggtAcgataaaggggaatgtggaa	15	3	0	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:153175110A>G	uc003lva.3	+	14	2710	c.2345A>G	c.(2344-2346)TAC>TGC	p.Y782C	GRIA1_uc003luy.3_Intron|GRIA1_uc003luz.3_Missense_Mutation_p.Y687C|GRIA1_uc011dcv.1_Intron|GRIA1_uc011dcw.1_Intron|GRIA1_uc011dcx.1_Intron|GRIA1_uc011dcy.1_Missense_Mutation_p.Y792C|GRIA1_uc011dcz.1_Intron	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	782	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAATGGTGGTACGATAAAGGG	0.478													G	153175110	A	G	153175110	3	3	106	1	0	0	0	0	1	0	0	0	6767	391	14	3	2518	3	GRIA1	5	153175110	Missense_Mutation	SNP	A	TCGA-BR-8683-01A-11D-2394-08	4421041	153175110	27740150	69	73471											
JARID2	3720	broad.mit.edu	37	chr6	15496755	15496755	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgggagggcctgcagctGcgggaggggctgcggaactc	20	11	0	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr6:15496755G>T	uc003nbj.2	+	7	1543	c.1299G>T	c.(1297-1299)CTG>CTT	p.L433L	JARID2_uc011diu.1_Silent_p.L297L|JARID2_uc011div.1_Silent_p.L261L|JARID2_uc011diw.1_Silent_p.L395L	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	433					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GCCTGCAGCTGCGGGAGGGGC	0.672													T	15496755	G	T	15496755	2	4	106	1	0	0	0	0	0	0	0	1	7945	1306	46	5		5	JARID2	6	15496755	Silent	SNP	G	TCGA-BR-8683-01A-11D-2394-08		15496755	155618312	70	73472											
ATXN1	6310	broad.mit.edu	37	chr6	16326835	16326835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgaagtagggaggcagCgtagggggagccgccgccgg	19	9	1	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr6:16326835C>T	uc003nbt.2	-	8	2678	c.1707G>A	c.(1705-1707)ACG>ACA	p.T569T	ATXN1_uc010jpi.2_Silent_p.T569T|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	569	Self-association.|Interaction with USP7.|RNA-binding.|AXH.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				AGGGAGGCAGCGTAGGGGGAG	0.607													T	16326835	C	T	16326835	2	4	106	1	0	0	0	0	0	0	0	1	1209	755	27	1		1	ATXN1	6	16326835	Silent	SNP	C	TCGA-BR-8683-01A-11D-2394-08	830080	16326835	154788232	71	73473											
PGBD1	84547	broad.mit.edu	37	chr6	28270052	28270052	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggaacacaatgctcatctGtcagattagggtacataaaa	8	7	3	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr6:28270052G>A	uc003nky.2	+	7	2791	c.2421G>A	c.(2419-2421)CTG>CTA	p.L807L	PGBD1_uc003nkz.2_Silent_p.L807L	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	807					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						ATGCTCATCTGTCAGATTAGG	0.388													A	28270052	G	A	28270052	2	1	106	1	0	0	0	0	0	0	0	1	11780	1364	48	4		4	PGBD1	6	28270052	Silent	SNP	G	TCGA-BR-8683-01A-11D-2394-08	11943217	28270052	142845015	72	73474											
HLA-F	3134	broad.mit.edu	37	chr6	29694772	29694772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagtcacagtgtcttgggCcgccggaaggtgggtgacat	17	9	2	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr6:29694772C>T	uc003nno.3	+	7	1273	c.1149C>T	c.(1147-1149)GGC>GGT	p.G383G	HLA-F_uc011dlx.1_Silent_p.G383G|HLA-F_uc011dly.1_RNA|LOC285830_uc003nnp.2_RNA|LOC285830_uc011dlz.1_RNA	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	Error:Variant_position_missing_in_P30511_after_alignment					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						GTGTCTTGGGCCGCCGGAAGG	0.512													T	29694772	C	T	29694772	2	4	106	1	0	0	0	0	0	0	0	1	7211	726	26	2		2	HLA-F	6	29694772	Silent	SNP	C	TCGA-BR-8683-01A-11D-2394-08	1424720	29694772	141420295	73	73475											
KIFC1	3833	broad.mit.edu	37	chr6	33373066	33373066	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatgcttgtccagtcagcCctggatggctatccagtatg	11	12	1	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr6:33373066C>T	uc003oef.3	+	7	1644	c.1194C>T	c.(1192-1194)GCC>GCT	p.A398A	KIFC1_uc011drf.1_Silent_p.A390A	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	398	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0						TCCAGTCAGCCCTGGATGGCT	0.552													T	33373066	C	T	33373066	2	4	106	1	0	0	0	0	0	0	0	1	8312	610	22	4		4	KIFC1	6	33373066	Silent	SNP	C	TCGA-BR-8683-01A-11D-2394-08	3678294	33373066	137742001	74	73476											
BTBD9	114781	broad.mit.edu	37	chr6	38561911	38561911	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatactcagaggtagaatcCtctagctctggaaatccata	8	9	3	3			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr6:38561911C>T	uc003ooa.3	-	4	954	c.378G>A	c.(376-378)GAG>GAA	p.E126E	BTBD9_uc003ony.3_Silent_p.E58E|BTBD9_uc010jwv.2_Silent_p.E58E|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Silent_p.E126E	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9 isoform a	126					cell adhesion						0						AGGTAGAATCCTCTAGCTCTG	0.443													T	38561911	C	T	38561911	2	4	106	1	0	0	0	0	0	0	0	1	1548	680	24	4		4	BTBD9	6	38561911	Silent	SNP	C	TCGA-BR-8683-01A-11D-2394-08	5188845	38561911	132553156	75	73477											
KIF6	221458	broad.mit.edu	37	chr6	39398879	39398879	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggtaacgctgtcagcgtgGtccctcttgaagatttcaaa	10	9	3	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr6:39398879G>T	uc003oot.2	-	14	1799	c.1704C>A	c.(1702-1704)GAC>GAA	p.D568E	KIF6_uc003oos.2_Missense_Mutation_p.D19E|KIF6_uc010jwz.1_Intron|KIF6_uc010jxa.1_Missense_Mutation_p.D359E|KIF6_uc011dua.1_Missense_Mutation_p.D568E|KIF6_uc010jxb.1_Missense_Mutation_p.D512E	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	568				CQEAFEIFKRDHADSVTIDDNKQILKQ -> NATILSSLTG PGLQHFGEKIQFAPQEN (in Ref. 4; CAD89950).	microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						TGTCAGCGTGGTCCCTCTTGA	0.512													T	39398879	G	T	39398879	3	4	106	1	0	0	0	0	1	0	0	0	8308	1252	44	5	780	5	KIF6	6	39398879	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	836968	39398879	131716188	76	73478											
USP49	25862	broad.mit.edu	37	chr6	41771588	41771588	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctcccttccagggcctctGtctctgtgaatttggccagc	9	14	3	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr6:41771588G>T	uc003ori.2	-	5	1739	c.1517C>A	c.(1516-1518)ACA>AAA	p.T506K		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	506					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGGGCCTCTGTCTCTGTGAA	0.488													T	41771588	G	T	41771588	3	4	106	1	0	0	0	0	1	0	0	0	17077	1377	48	5	417	5	USP49	6	41771588	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	2372709	41771588	129343479	77	73479											
RUNX2	860	broad.mit.edu	37	chr6	45405709	45405709	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttcaccttgaccataacCgtcttcacaaatcctcccca	3	16	3	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr6:45405709C>T	uc011dvx.1	+	5	816	c.606C>T	c.(604-606)ACC>ACT	p.T202T	RUNX2_uc011dvy.1_Silent_p.T202T|RUNX2_uc003oxt.2_Silent_p.T188T	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	runt-related transcription factor 2 isoform a	202	Runt.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3						TGACCATAACCGTCTTCACAA	0.388													T	45405709	C	T	45405709	2	4	106	1	0	0	0	0	0	0	0	1	13748	639	23	1		1	RUNX2	6	45405709	Silent	SNP	C	TCGA-BR-8683-01A-11D-2394-08	3634121	45405709	125709358	78	73480											
C6orf170	221322	broad.mit.edu	37	chr6	121655563	121655563	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcatcgcctggtcctcgctgGagaaatgggccatcctgttg	13	12	0	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr6:121655563G>T	uc003pyo.1	-	1	82	c.14C>A	c.(13-15)TCC>TAC	p.S5Y	C6orf170_uc003pyq.1_RNA	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	5					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		GTCCTCGCTGGAGAAATGGGC	0.517													T	121655563	G	T	121655563	3	4	106	1	0	0	0	0	1	0	0	0	2344	1174	41	5	3887	5	C6orf170	6	121655563	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	76249854	121655563	49459504	79	73481											
C1GALT1	56913	broad.mit.edu	37	chr7	7283247	7283247	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctcgtttatcatcttcgTccatatggttatttatacag	5	9	2	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr7:7283247T>G	uc010ktn.2	+	4	1204	c.981T>G	c.(979-981)CGT>CGG	p.R327R	C1GALT1_uc003sra.2_Silent_p.R327R|uc003srb.1_5'Flank	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN	core 1 synthase,	327	Lumenal (Potential).				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		ATCATCTTCGTCCATATGGTT	0.343													G	7283247	T	G	7283247	2	3	106	1	0	0	0	0	0	0	0	1	1952	1654	58	5		5	C1GALT1	7	7283247	Silent	SNP	T	TCGA-BR-8683-01A-11D-2394-08		7283247	151855416	80	73482											
DNAH11	8701	broad.mit.edu	37	chr7	21630827	21630827	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggaaatcttgaccttcttGtgcaagggtataataaactc	8	7	2	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr7:21630827G>T	uc003svc.2	+	14	2330	c.2299G>T	c.(2299-2301)GTG>TTG	p.V767L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	767	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TGACCTTCTTGTGCAAGGGTA	0.403									Kartagener_syndrome				T	21630827	G	T	21630827	3	4	106	1	0	0	0	0	1	0	0	0	4599	1377	48	5	2353	5	DNAH11	7	21630827	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	14347580	21630827	137507836	81	73483											
GLI3	2737	broad.mit.edu	37	chr7	42065827	42065827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagaagggccggagctgaCctggacggggttcagaaccg	16	11	2	3			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr7:42065827C>T	uc011kbh.1	-	8	1304	c.1213G>A	c.(1213-1215)GTC>ATC	p.V405I	GLI3_uc011kbg.1_Missense_Mutation_p.V346I	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	405					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CCGGAGCTGACCTGGACGGGG	0.627									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42065827	C	T	42065827	3	4	106	1	0	0	0	0	1	0	0	0	6439	507	18	4	3561	4	GLI3	7	42065827	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	20435000	42065827	117072836	82	73484											
KIAA1324L	222223	broad.mit.edu	37	chr7	86542517	86542517	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catgtcattgatgaaccgtcTattctaaaaaaaagagcata	6	7	3	3			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr7:86542517T>A	uc011kha.1	-	14	1920	c.1735A>T	c.(1735-1737)AGA>TGA	p.R579*	KIAA1324L_uc003uif.1_Nonsense_Mutation_p.R339*|KIAA1324L_uc011kgz.1_Nonsense_Mutation_p.R465*|KIAA1324L_uc003uie.2_Nonsense_Mutation_p.R412*	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	579	Extracellular (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)					ATGAACCGTCTATTCTAAAAA	0.413													A	86542517	T	A	86542517	4	1	106	1	0	0	0	0	0	1	0	0	8224	1530	53	5	1390	5	KIAA1324L	7	86542517	Nonsense_Mutation	SNP	T	TCGA-BR-8683-01A-11D-2394-08	44476690	86542517	72596146	83	73485											
TAF6	6878	broad.mit.edu	37	chr7	99711237	99711237	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgctctcccctcccccaAcctttgaggcagacgtccag	7	20	1	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr7:99711237A>G	uc003uti.2	-	4	478	c.397_splice	c.e4+1	p.A133_splice	TAF6_uc003utg.2_Splice_Site_p.A74_splice|TAF6_uc003uth.2_Splice_Site_p.A190_splice|TAF6_uc003utk.2_Splice_Site_p.A133_splice|TAF6_uc011kji.1_Splice_Site_p.A170_splice|TAF6_uc003utj.2_Splice_Site_p.A123_splice|TAF6_uc003utl.2_Splice_Site_p.A133_splice|TAF6_uc003utm.2_Splice_Site_p.A133_splice|TAF6_uc003utn.1_Intron	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha						negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCTCCCCCAACCTTTGAGGC	0.572													G	99711237	A	G	99711237	5	3	106	1	0	0	0	0	0	0	1	0	15527	57	2	3	1682	3	TAF6	7	99711237	Splice_Site	SNP	A	TCGA-BR-8683-01A-11D-2394-08	13168720	99711237	59427426	84	73486											
MLL5	55904	broad.mit.edu	37	chr7	104715218	104715219	+	Frame_Shift_Ins	INS	-	-	A													agttaatgataaaagaaggaINSaaaaaagcggggagaaagaa							TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr7:104715217_104715218G>GA	uc003vcm.3	+	7	1218_1219	c.684_685G>GA	c.(682-687)aggaaafs	p.R228fs	MLL5_uc010lja.1_Frame_Shift_Ins_p.R82fs|MLL5_uc010ljb.1_Frame_Shift_Ins_p.R228fs|MLL5_uc003vcl.3_Frame_Shift_Ins_p.R228fs|MLL5_uc010ljc.3_Frame_Shift_Ins_p.R228fs|MLL5_uc003vco.1_Non-coding_Transcript|MLL5_uc010ljd.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	228					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						ATAAAAGAAGGAAAAAAAGCGG	0.356													A	104715219	-	A	104715218	7	5	106	1	0	1	1	0	0	0	0	0	9624	247	9	0	707	0	MLL5	7	104715218	Frame_Shift_Ins	INS	-	TCGA-BR-8683-01A-11D-2394-08	5003981	104715218	54423445	85	73487											
CREB3L2	64764	broad.mit.edu	37	chr7	137565290	137565290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcattcccctccagtttggCgctgaccctgtgaaggcatt	9	13	1	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr7:137565290C>T	uc003vtw.2	-	12	1890	c.1495G>A	c.(1495-1497)GCC>ACC	p.A499T	CREB3L2_uc003vtv.2_Missense_Mutation_p.A436T	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like	499	Lumenal (Potential).				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160						TCCAGTTTGGCGCTGACCCTG	0.458			T	FUS	fibromyxoid sarcoma								T	137565290	C	T	137565290	3	4	106	1	0	0	0	0	1	0	0	0	3857	768	27	1	71	1	CREB3L2	7	137565290	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	32850072	137565290	21573373	86	73488											
NEFM	4741	broad.mit.edu	37	chr8	24771915	24771915	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacgacactgaggcggccatCcgcgcgctgcgcaaagacat	13	14	0	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr8:24771915C>T	uc003xed.3	+	1	642	c.609C>T	c.(607-609)ATC>ATT	p.I203I	NEFM_uc011lac.1_Silent_p.I203I|NEFM_uc010lue.2_5'Flank|uc010luc.1_Silent_p.R51R	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	203	Rod.|Coil 1B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGGCGGCCATCCGCGCGCTGC	0.647													T	24771915	C	T	24771915	2	4	106	1	0	0	0	0	0	0	0	1	10316	845	30	4		4	NEFM	8	24771915	Silent	SNP	C	TCGA-BR-8683-01A-11D-2394-08		24771915	121592107	87	73489											
CHRNA2	1135	broad.mit.edu	37	chr8	27320871	27320871	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggccccccgcacccagtgGggcatggtgtgggtgctggg	19	12	0	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr8:27320871G>A	uc010lur.2	-	6	1698	c.1089C>T	c.(1087-1089)CCC>CCT	p.P363P	CHRNA2_uc011lal.1_Silent_p.P348P|CHRNA2_uc010lus.2_Silent_p.P165P	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	363	Cytoplasmic.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GCACCCAGTGGGGCATGGTGT	0.647													A	27320871	G	A	27320871	2	1	106	1	0	0	0	0	0	0	0	1	3383	1219	43	4		4	CHRNA2	8	27320871	Silent	SNP	G	TCGA-BR-8683-01A-11D-2394-08	2548956	27320871	119043151	88	73490											
CRISPLD1	83690	broad.mit.edu	37	chr8	75927084	75927084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccccttacaaacatgggCggccctgttctgcttgccca	9	15	1	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr8:75927084C>T	uc003yan.2	+	6	1039	c.664C>T	c.(664-666)CGG>TGG	p.R222W	CRISPLD1_uc011lfk.1_Missense_Mutation_p.R34W|CRISPLD1_uc011lfl.1_Missense_Mutation_p.R34W	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	222						extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CAAACATGGGCGGCCCTGTTC	0.423													T	75927084	C	T	75927084	3	4	106	1	0	0	0	0	1	0	0	0	3882	759	27	1	682	1	CRISPLD1	8	75927084	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	48606213	75927084	70436938	89	73491											
KCNS2	3788	broad.mit.edu	37	chr8	99441398	99441398	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgcctgcatcttggcAggcatcctcgtggtggtcct	12	14	2	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr8:99441398A>G	uc003yin.2	+	2	1541	c.1191A>G	c.(1189-1191)GCA>GCG	p.A397A		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	397	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GCATCTTGGCAGGCATCCTCG	0.582													G	99441398	A	G	99441398	2	3	106	1	0	0	0	0	0	0	0	1	8089	175	7	3		3	KCNS2	8	99441398	Silent	SNP	A	TCGA-BR-8683-01A-11D-2394-08	23514314	99441398	46922624	90	73492											
UBR5	51366	broad.mit.edu	37	chr8	103297906	103297906	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgttaggtaactgctggcGttgctagcttccaaagcagc	12	9	0	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr8:103297906G>A	uc003ykr.1	-	39	5352	c.5319C>T	c.(5317-5319)AAC>AAT	p.N1773N	UBR5_uc003yks.1_Silent_p.N1773N	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1773					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AACTGCTGGCGTTGCTAGCTT	0.463													A	103297906	G	A	103297906	2	1	106	1	0	0	0	0	0	0	0	1	16902	1136	40	1		1	UBR5	8	103297906	Silent	SNP	G	TCGA-BR-8683-01A-11D-2394-08	3856508	103297906	43066116	91	73493											
UBR5	51366	broad.mit.edu	37	chr8	103324612	103324614	+	In_Frame_Del	DEL	AGA	AGA	-													aacctacaatcctgcaggagAgaagaagggtcagcatctgg							TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr8:103324611_103324613GAGA>G	uc003ykr.2	-	16	2563_2565	c.2108_2110TCTC>C	c.(2107-2112)tctctc>tCtc	p.L705del	UBR5_uc003yks.2_In_Frame_Del_p.L705del	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	705					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCCTGCAGGAGAGAAGAAGGGTC	0.404													-	103324614	AGA	-	103324612	7	5	106	1	0	1	0	1	0	0	0	0	16902	291	11	0	6462	0	UBR5	8	103324612	In_Frame_Del	DEL	AGA	TCGA-BR-8683-01A-11D-2394-08	26706	103324612	43039410	92	73494											
TNFRSF11B	4982	broad.mit.edu	37	chr8	119941043	119941043	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtgtgttgcatttccttTctgagttagcaggagaccaa	11	8	1	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr8:119941043T>A	uc003yon.3	-	3	849	c.526A>T	c.(526-528)AAA>TAA	p.K176*	TNFRSF11B_uc010mdc.1_RNA	NM_002546	NP_002537	O00300	TR11B_HUMAN	osteoprotegerin precursor	176	TNFR-Cys 4.				apoptosis|skeletal system development		cytokine activity|receptor activity			central_nervous_system(2)	2	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GCATTTCCTTTCTGAGTTAGC	0.388													A	119941043	T	A	119941043	4	1	106	1	0	0	0	0	0	1	0	0	16282	1792	62	5	691	5	TNFRSF11B	8	119941043	Nonsense_Mutation	SNP	T	TCGA-BR-8683-01A-11D-2394-08	16616431	119941043	26422979	93	73495											
LRRC24	441381	broad.mit.edu	37	chr8	145749636	145749638	+	In_Frame_Del	DEL	TTC	TTC	-													tccagcagctcaatgctgttTtcttgcaggtgaagctcctg							TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr8:145749635_145749637TTTC>T	uc003zdm.3	-	3	596_598	c.464_466GAAA>A	c.(463-468)gaaaac>gAac	p.N156del	LRRC14_uc003zdk.2_3'UTR|LRRC14_uc003zdl.2_3'UTR	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	Homo sapiens leucine rich repeat containing 24 (LRRC24), mRNA.	156						integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCAATGCTGTTTTCTTGCAGGTG	0.586													-	145749638	TTC	-	145749636	7	5	106	1	0	1	0	1	0	0	0	0	8979	1838	64	0	1084	0	LRRC24	8	145749636	In_Frame_Del	DEL	TTC	TCGA-BR-8683-01A-11D-2394-08	25808593	145749636	614386	94	73496											
AGTPBP1	23287	broad.mit.edu	37	chr9	88207528	88207528	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcaaagtagcaaacatcatCtttatgtggaaaattgacag	8	6	2	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr9:88207528C>A	uc011ltd.1	-	18	2548	c.2515G>T	c.(2515-2517)GAT>TAT	p.D839Y	AGTPBP1_uc004aod.3_Missense_Mutation_p.D465Y|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Missense_Mutation_p.D799Y|AGTPBP1_uc011lte.1_Missense_Mutation_p.D851Y	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	839					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						CAAACATCATCTTTATGTGGA	0.303													A	88207528	C	A	88207528	3	1	106	1	0	0	0	0	1	0	0	0	400	913	32	5	1197	5	AGTPBP1	9	88207528	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08		88207528	53005903	95	73497											
PTCH1	5727	broad.mit.edu	37	chr9	98232138	98232138	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtctcctgtcctcgcgtcGatataaatccatgctgagaa	8	12	1	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr9:98232138G>A	uc004avk.3	-	13	1992	c.1804C>T	c.(1804-1806)CGA>TGA	p.R602*	PTCH1_uc010mro.2_Nonsense_Mutation_p.R451*|PTCH1_uc010mrp.2_Nonsense_Mutation_p.R451*|PTCH1_uc010mrq.2_Nonsense_Mutation_p.R451*|PTCH1_uc004avl.3_Nonsense_Mutation_p.R451*|PTCH1_uc010mrr.2_Nonsense_Mutation_p.R536*|PTCH1_uc004avm.3_Nonsense_Mutation_p.R601*|PTCH1_uc010mrs.1_Nonsense_Mutation_p.R270*	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	602	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.R602*(4)		skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TCCTCGCGTCGATATAAATCC	0.443									Basal_Cell_Nevus_syndrome				A	98232138	G	A	98232138	4	1	106	1	0	0	0	0	0	1	0	0	12730	1066	37	1	2583	1	PTCH1	9	98232138	Nonsense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	10024610	98232138	42981293	96	73498											
OR1L1	26737	broad.mit.edu	37	chr9	125424489	125424489	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacattcttctgactaatcaGctcatcttctgtgcctcaaa	4	13	7	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr9:125424489G>T	uc011lza.1	+	1	645	c.645G>T	c.(643-645)CAG>CAT	p.Q215H		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L,	215	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						TGACTAATCAGCTCATCTTCT	0.433													T	125424489	G	T	125424489	3	4	106	1	0	0	0	0	1	0	0	0	10963	962	34	5	497	5	OR1L1	9	125424489	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	27192351	125424489	15788942	97	73499											
ITIH2	3698	broad.mit.edu	37	chr10	7771981	7771981	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaagacaatatctccttgtTcagtttgggcatgggatttg	10	8	2	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr10:7771981T>A	uc001ijs.2	+	12	1508	c.1346T>A	c.(1345-1347)TTC>TAC	p.F449Y		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	449	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3						ATCTCCTTGTTCAGTTTGGGC	0.388													A	7771981	T	A	7771981	3	1	106	1	0	0	0	0	1	0	0	0	7904	1783	62	5	1392	5	ITIH2	10	7771981	Missense_Mutation	SNP	T	TCGA-BR-8683-01A-11D-2394-08		7771981	127762766	98	73500											
PCDH15	65217	broad.mit.edu	37	chr10	55826517	55826517	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatataaatattccacttacTtttacttgacccacaaaggc	3	10	0	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr10:55826517T>A	uc001jju.1	-	18	2615	c.2220A>T	c.(2218-2220)AAA>AAT	p.K740N	PCDH15_uc010qhq.1_Missense_Mutation_p.K745N|PCDH15_uc010qhr.1_Missense_Mutation_p.K740N|PCDH15_uc010qhs.1_Missense_Mutation_p.K752N|PCDH15_uc010qht.1_Missense_Mutation_p.K747N|PCDH15_uc010qhu.1_Missense_Mutation_p.K740N|PCDH15_uc001jjv.1_Missense_Mutation_p.K718N|PCDH15_uc010qhv.1_Missense_Mutation_p.K740N|PCDH15_uc010qhw.1_Missense_Mutation_p.K703N|PCDH15_uc010qhx.1_Missense_Mutation_p.K669N|PCDH15_uc010qhy.1_Missense_Mutation_p.K745N|PCDH15_uc010qhz.1_Missense_Mutation_p.K740N|PCDH15_uc010qia.1_Missense_Mutation_p.K718N|PCDH15_uc010qib.1_Missense_Mutation_p.K718N|PCDH15_uc001jjw.2_Missense_Mutation_p.K740N	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	740	Extracellular (Potential).|Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCCACTTACTTTTACTTGAC	0.323										HNSCC(58;0.16)			A	55826517	T	A	55826517	3	1	106	1	0	0	0	0	1	0	0	0	11511	1623	56	5	5330	5	PCDH15	10	55826517	Missense_Mutation	SNP	T	TCGA-BR-8683-01A-11D-2394-08	48054536	55826517	79708230	99	73501											
CCAR1	55749	broad.mit.edu	37	chr10	70509403	70509403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagttcgacgtgttgttcCacgttacacagttcagtttt	10	8	1	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr10:70509403C>T	uc001joo.2	+	10	1198	c.1079C>T	c.(1078-1080)CCA>CTA	p.P360L	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Missense_Mutation_p.P165L|CCAR1_uc009xpx.1_Missense_Mutation_p.P334L|CCAR1_uc001jon.1_Missense_Mutation_p.P306L|CCAR1_uc010qiz.1_Missense_Mutation_p.P345L|CCAR1_uc010qja.1_Missense_Mutation_p.P345L|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	360	Arg-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7						CGTGTTGTTCCACGTTACACA	0.418													T	70509403	C	T	70509403	3	4	106	1	0	0	0	0	1	0	0	0	2730	594	21	4	1113	4	CCAR1	10	70509403	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	14682886	70509403	65025344	100	73502											
GBF1	8729	broad.mit.edu	37	chr10	104136717	104136717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcccaggagaaacgtggCaagagtcacaaatatgacag	11	8	1	3			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr10:104136717C>T	uc001kux.1	+	33	4551	c.4311C>T	c.(4309-4311)GGC>GGT	p.G1437G	GBF1_uc001kuy.1_Silent_p.G1437G|GBF1_uc001kuz.1_Silent_p.G1438G	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1437					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AGAAACGTGGCAAGAGTCACA	0.507													T	104136717	C	T	104136717	2	4	106	1	0	0	0	0	0	0	0	1	6271	697	25	2		2	GBF1	10	104136717	Silent	SNP	C	TCGA-BR-8683-01A-11D-2394-08	33627314	104136717	31398030	101	73503											
VENTX	27287	broad.mit.edu	37	chr10	135053288	135053288	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaccaccagtacctgaGccctctggagcggaagaggc	12	15	1	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr10:135053288G>T	uc010quy.1	+	2	361	c.350G>T	c.(349-351)AGC>ATC	p.S117I		NM_014468	NP_055283	O95231	VENTX_HUMAN	VENT homeobox	117	Homeobox.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CAGTACCTGAGCCCTCTGGAG	0.493													T	135053288	G	T	135053288	3	4	106	1	0	0	0	0	1	0	0	0	17150	971	34	5	356	5	VENTX	10	135053288	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	30916571	135053288	481459	102	73504											
PHRF1	57661	broad.mit.edu	37	chr11	608501	608501	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggtgtccagggagcacggAcggacgcgctctgggacgcg	19	11	1	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr11:608501A>G	uc001lqe.2	+	14	3176	c.3045A>G	c.(3043-3045)GGA>GGG	p.G1015G	PHRF1_uc010qwc.1_Silent_p.G1014G|PHRF1_uc010qwd.1_Silent_p.G1013G|PHRF1_uc010qwe.1_Silent_p.G1011G|PHRF1_uc009ybz.1_Silent_p.G805G|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1015	Arg-rich.						RNA polymerase binding|zinc ion binding				0						GGGAGCACGGACGGACGCGCT	0.667													G	608501	A	G	608501	2	3	106	1	0	0	0	0	0	0	0	1	11861	262	10	3		3	PHRF1	11	608501	Silent	SNP	A	TCGA-BR-8683-01A-11D-2394-08		608501	134398015	103	73505											
RAG1	5896	broad.mit.edu	37	chr11	36595009	36595009	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcaaaaggaaaagaaggattCctttgaggggaaaccctctc	10	8	2	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr11:36595009C>A	uc001mwu.3	+	2	279	c.155C>A	c.(154-156)TCC>TAC	p.S52Y	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	52	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				AAGAAGGATTCCTTTGAGGGG	0.463									Familial_Hemophagocytic_Lymphohistiocytosis				A	36595009	C	A	36595009	3	1	106	1	0	0	0	0	1	0	0	0	13003	855	30	5	157	5	RAG1	11	36595009	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	35986508	36595009	98411507	104	73506											
C11orf94	143678	broad.mit.edu	37	chr11	45928156	45928156	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tagtaatactcggcaaggtcGggcccgtcccgcttgcgctg	13	13	0	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr11:45928156G>C	uc001nbs.3	-	3	298	c.261C>G	c.(259-261)CCC>CCG	p.P87P		NM_001080446	NP_001073915	C9JXX5	CK094_HUMAN	hypothetical protein LOC143678	87						extracellular region					0						CGGCAAGGTCGGGCCCGTCCC	0.582													C	45928156	G	C	45928156	2	2	106	1	0	0	0	0	0	0	0	1	1673	1103	39	5		5	C11orf94	11	45928156	Silent	SNP	G	TCGA-BR-8683-01A-11D-2394-08	9333147	45928156	89078360	105	73507											
MS4A8B	83661	broad.mit.edu	37	chr11	60476241	60476241	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaccccgactattatccttAcgcctggggtgtggtgagta	11	11	0	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr11:60476241A>G	uc001npv.2	+	5	724	c.521A>G	c.(520-522)TAC>TGC	p.Y174C	MS4A8B_uc009yne.1_Missense_Mutation_p.Y174C	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	membrane-spanning 4-domains, subfamily A, member	174	Extracellular (Potential).					integral to membrane	receptor activity				0						TATTATCCTTACGCCTGGGGT	0.453													G	60476241	A	G	60476241	3	3	106	1	0	0	0	0	1	0	0	0	9867	391	14	3	535	3	MS4A8B	11	60476241	Missense_Mutation	SNP	A	TCGA-BR-8683-01A-11D-2394-08	14548085	60476241	74530275	106	73508											
OR2AT4	341152	broad.mit.edu	37	chr11	74800351	74800351	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggttcatgaggacagggtaGtgcagtgggtggcagatagc	19	5	1	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr11:74800351G>T	uc010rro.1	-	1	408	c.408C>A	c.(406-408)CAC>CAA	p.H136Q		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT,	136	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GGACAGGGTAGTGCAGTGGGT	0.542													T	74800351	G	T	74800351	3	4	106	1	0	0	0	0	1	0	0	0	10987	1020	36	5	557	5	OR2AT4	11	74800351	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	14324110	74800351	60206165	107	73509											
TMEM225	338661	broad.mit.edu	37	chr11	123753982	123753982	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaattctcagattccttacAttcgttgtcagatttatgga	7	7	2	3			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr11:123753982A>G	uc001pzi.2	-	4	749	c.541T>C	c.(541-543)TGT>CGT	p.C181R		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	transmembrane protein 225	181						integral to membrane				upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	3						GATTCCTTACATTCGTTGTCA	0.438													G	123753982	A	G	123753982	3	3	106	1	0	0	0	0	1	0	0	0	16144	217	8	3	140	3	TMEM225	11	123753982	Missense_Mutation	SNP	A	TCGA-BR-8683-01A-11D-2394-08	48953631	123753982	11252534	108	73510											
OR10S1	219873	broad.mit.edu	37	chr11	123847713	123847713	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatgaagatgtaggaaataAcgatgaggatgaggcagcct	14	5	0	4			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr11:123847713A>C	uc001pzm.1	-	1	686	c.686T>G	c.(685-687)GTT>GGT	p.V229G		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	229	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTAGGAAATAACGATGAGGAT	0.597													C	123847713	A	C	123847713	3	2	106	1	0	0	0	0	1	0	0	0	10918	43	2	5	313	5	OR10S1	11	123847713	Missense_Mutation	SNP	A	TCGA-BR-8683-01A-11D-2394-08	93731	123847713	11158803	109	73511											
LRMP	4033	broad.mit.edu	37	chr12	25254154	25254154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagtgatgattcagcacGtagaaaacttgaagaggatg	12	4	1	6			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr12:25254154G>A	uc001rgh.2	+	15	1818	c.784G>A	c.(784-786)GTA>ATA	p.V262I	LRMP_uc010sja.1_Missense_Mutation_p.V262I|LRMP_uc010sjb.1_Missense_Mutation_p.V209I|LRMP_uc001rgi.2_RNA|LRMP_uc010sjc.1_Missense_Mutation_p.V262I|LRMP_uc010sjd.1_Missense_Mutation_p.V209I	NM_006152	NP_006143	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	318	Potential.|Cytoplasmic (Potential).				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GATTCAGCACGTAGAAAACTT	0.358													A	25254154	G	A	25254154	3	1	106	1	0	0	0	0	1	0	0	0	8950	1145	40	1	826	1	LRMP	12	25254154	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08		25254154	108597741	110	73512											
PLXNC1	10154	broad.mit.edu	37	chr12	94603463	94603463	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccctaaaattcagataattCgaagcagtaaagaaaaggta	8	6	1	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr12:94603463C>T	uc001tdc.2	+	5	1786	c.1537C>T	c.(1537-1539)CGA>TGA	p.R513*		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	513	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						TCAGATAATTCGAAGCAGTAA	0.358													T	94603463	C	T	94603463	4	4	106	1	0	0	0	0	0	1	0	0	12126	876	31	1	1555	1	PLXNC1	12	94603463	Nonsense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	69349309	94603463	39248432	111	73513											
ANO4	121601	broad.mit.edu	37	chr12	101520836	101520836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggaaaagcacaccacaaCgagtggccgtgaccatgtag	11	10	0	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr12:101520836C>T	uc010svm.1	+	27	3428	c.2856C>T	c.(2854-2856)AAC>AAT	p.N952N	ANO4_uc001thw.2_Silent_p.N917N|ANO4_uc001thx.2_Silent_p.N952N|ANO4_uc001thy.2_Silent_p.N472N	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	952	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						CACACCACAACGAGTGGCCGT	0.488										HNSCC(74;0.22)			T	101520836	C	T	101520836	2	4	106	1	0	0	0	0	0	0	0	1	699	535	19	1		1	ANO4	12	101520836	Silent	SNP	C	TCGA-BR-8683-01A-11D-2394-08	6917373	101520836	32331059	112	73514											
OAS2	4939	broad.mit.edu	37	chr12	113424902	113424902	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccgatggtacccttgtcctCttcttcagtgacttaaaaca	6	12	3	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr12:113424902C>T	uc001tuj.2	+	2	377	c.237C>T	c.(235-237)CTC>CTT	p.L79L	OAS2_uc001tuh.2_Silent_p.L79L|OAS2_uc001tui.1_Silent_p.L79L	NM_016817	NP_058197	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2 isoform 1	79	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(1)	1						CCCTTGTCCTCTTCTTCAGTG	0.458													T	113424902	C	T	113424902	2	4	106	1	0	0	0	0	0	0	0	1	10800	900	32	4		4	OAS2	12	113424902	Silent	SNP	C	TCGA-BR-8683-01A-11D-2394-08	11904066	113424902	20426993	113	73515											
NOS1	4842	broad.mit.edu	37	chr12	117658007	117658007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagacgtatatgtggcccCcttgctccttcagggctcgg	11	14	1	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr12:117658007C>T	uc001twm.1	-	27	4729	c.4043G>A	c.(4042-4044)GGG>GAG	p.G1348E		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1348	NADP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TATGTGGCCCCCTTGCTCCTT	0.602													T	117658007	C	T	117658007	3	4	106	1	0	0	0	0	1	0	0	0	10541	623	22	4	273	4	NOS1	12	117658007	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	4233105	117658007	16193888	114	73516											
TMEM132B	114795	broad.mit.edu	37	chr12	125834316	125834316	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaattgaaatcccacaTccttgacagctccatctact	5	13	1	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr12:125834316T>C	uc001uhe.1	+	2	379	c.371T>C	c.(370-372)ATC>ACC	p.I124T		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	124	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAATCCCACATCCTTGACAGC	0.468													C	125834316	T	C	125834316	3	2	106	1	0	0	0	0	1	0	0	0	16043	1435	50	3	377	3	TMEM132B	12	125834316	Missense_Mutation	SNP	T	TCGA-BR-8683-01A-11D-2394-08	8176309	125834316	8017579	115	73517											
GPR133	283383	broad.mit.edu	37	chr12	131466566	131466566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgtggagctgtatacgCgggacaattccatgacatgg	13	9	1	1	rs144030317		TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr12:131466566C>T	uc001uit.3	+	5	1007	c.448C>T	c.(448-450)CGG>TGG	p.R150W	GPR133_uc010tbm.1_Missense_Mutation_p.R182W	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	150	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCTGTATACGCGGGACAATTC	0.587													T	131466566	C	T	131466566	3	4	106	1	0	0	0	0	1	0	0	0	6643	759	27	1	466	1	GPR133	12	131466566	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	5632250	131466566	2385329	116	73518											
PCDH20	64881	broad.mit.edu	37	chr13	61987146	61987146	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttagatgcttgtggaacTttctgactgtaagaataagt	9	6	1	3			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr13:61987146T>C	uc001vid.3	-	2	1450	c.1086A>G	c.(1084-1086)AAA>AAG	p.K362K	PCDH20_uc010thj.1_Silent_p.K362K	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	335	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CTTGTGGAACTTTCTGACTGT	0.433													C	61987146	T	C	61987146	2	2	106	1	0	0	0	0	0	0	0	1	11515	1606	56	3		3	PCDH20	13	61987146	Silent	SNP	T	TCGA-BR-8683-01A-11D-2394-08		61987146	53182732	117	73519											
SLITRK6	84189	broad.mit.edu	37	chr13	86368485	86368485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattttcctgttccaaaagaCttctttggagatgttttgca	8	7	1	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr13:86368485C>T	uc001vll.1	-	2	2618	c.2159G>A	c.(2158-2160)AGT>AAT	p.S720N	SLITRK6_uc010afe.1_Missense_Mutation_p.S173N	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	720	Cytoplasmic (Potential).					integral to membrane		p.S720C(1)		large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTCCAAAAGACTTCTTTGGAG	0.398													T	86368485	C	T	86368485	3	4	106	1	0	0	0	0	1	0	0	0	14747	565	20	4	370	4	SLITRK6	13	86368485	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	24381339	86368485	28801393	118	73520											
SALL2	6297	broad.mit.edu	37	chr14	21991438	21991438	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtccccacctcctcctcTgccccagatgcctcttctga	5	20	3	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr14:21991438T>C	uc001wbe.2	-	2	2706	c.2424A>G	c.(2422-2424)GCA>GCG	p.A808A	SALL2_uc010tly.1_Silent_p.A806A|SALL2_uc010tlz.1_Silent_p.A671A|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Silent_p.A673A|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	sal-like 2	808							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|large_intestine(1)	3	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTCCTCCTCTGCCCCAGATG	0.532													C	21991438	T	C	21991438	2	2	106	1	0	0	0	0	0	0	0	1	13811	1567	55	3		3	SALL2	14	21991438	Silent	SNP	T	TCGA-BR-8683-01A-11D-2394-08		21991438	85358102	119	73521											
NPAS3	64067	broad.mit.edu	37	chr14	34269261	34269261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccgacagcgccaaggactCggacagcgcaggcgaggcgg	17	13	0	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr14:34269261C>T	uc001wru.2	+	12	1812	c.1748C>T	c.(1747-1749)TCG>TTG	p.S583L	NPAS3_uc001wrs.2_Missense_Mutation_p.S570L|NPAS3_uc001wrt.2_Missense_Mutation_p.S551L|NPAS3_uc001wrv.2_Missense_Mutation_p.S553L	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GCCAAGGACTCGGACAGCGCA	0.682													T	34269261	C	T	34269261	3	4	106	1	0	0	0	0	1	0	0	0	10564	893	31	1	1849	1	NPAS3	14	34269261	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	12277823	34269261	73080279	120	73522											
SYNE2	23224	broad.mit.edu	37	chr14	64556322	64556322	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctattgaatctgaagtaaaaTcaatggaaaaaagagtttca	7	4	3	3			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr14:64556322T>G	uc001xgm.2	+	59	11931	c.11701T>G	c.(11701-11703)TCA>GCA	p.S3901A	SYNE2_uc001xgl.2_Missense_Mutation_p.S3901A|SYNE2_uc010apy.2_Missense_Mutation_p.S286A|SYNE2_uc010apx.1_Missense_Mutation_p.S293A	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3901	Cytoplasmic (Potential).|Potential.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGAAGTAAAATCAATGGAAAA	0.289													G	64556322	T	G	64556322	3	3	106	1	0	0	0	0	1	0	0	0	15443	1435	50	5	11931	5	SYNE2	14	64556322	Missense_Mutation	SNP	T	TCGA-BR-8683-01A-11D-2394-08	30287061	64556322	42793218	121	73523											
COX16	51241	broad.mit.edu	37	chr14	70826374	70826374	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaaatctcagcagctcaCgctctcaccaagacgagtac	6	16	3	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr14:70826374C>T	uc001xmb.2	-	1	71	c.-69G>A	c.(-71--67)GCGTG>GCATG			NM_016468	NP_057552	Q9P0S2	COX16_HUMAN	COX16 cytochrome c oxidase assembly homolog							integral to membrane|mitochondrial membrane					0						CAGCAGCTCACGCTCTCACCA	0.517													T	70826374	C	T	70826374	1	4	106	1	0	0	0	0	0	0	0	0	3765	551	19	1		1	COX16	14	70826374	Translation_Start_Site	SNP	C	TCGA-BR-8683-01A-11D-2394-08	6270052	70826374	36523166	122	73524											
STON2	85439	broad.mit.edu	37	chr14	81744110	81744110	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgtgggccacagcaggTttgggctggtatttcttctt	14	8	2	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr14:81744110T>G	uc010tvu.1	-	4	1746	c.1545A>C	c.(1543-1545)AAA>AAC	p.K515N	STON2_uc001xvk.1_Missense_Mutation_p.K515N|STON2_uc010tvt.1_Missense_Mutation_p.K312N	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	515	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CCACAGCAGGTTTGGGCTGGT	0.493													G	81744110	T	G	81744110	3	3	106	1	0	0	0	0	1	0	0	0	15317	1722	60	5	1178	5	STON2	14	81744110	Missense_Mutation	SNP	T	TCGA-BR-8683-01A-11D-2394-08	10917736	81744110	25605430	123	73525											
SERPINA1	5265	broad.mit.edu	37	chr14	94847443	94847443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacgtggaagtcctcttcctCggtgtccttgacttcaaagg	10	12	2	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr14:94847443C>T	uc001ycx.3	-	3	943	c.682G>A	c.(682-684)GAG>AAG	p.E228K	SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Missense_Mutation_p.E228K|SERPINA1_uc010aux.2_Missense_Mutation_p.E228K|SERPINA1_uc001ycy.3_Missense_Mutation_p.E228K|SERPINA1_uc010auy.2_Missense_Mutation_p.E228K|SERPINA1_uc001ycz.3_Missense_Mutation_p.E228K|SERPINA1_uc010auz.2_Missense_Mutation_p.E228K|SERPINA1_uc010ava.2_Missense_Mutation_p.E228K|SERPINA1_uc001ydb.3_Missense_Mutation_p.E228K|SERPINA1_uc010avb.2_Missense_Mutation_p.E228K|SERPINA1_uc001ydc.3_Missense_Mutation_p.E228K|SERPINA1_uc001yda.1_Missense_Mutation_p.E228K	NM_000295	NP_000286	P01009	A1AT_HUMAN	serine proteinase inhibitor, clade A, member 1	228			E -> K (in X).		acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			skin(1)	1		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	TCCTCTTCCTCGGTGTCCTTG	0.522									Alpha-1-Antitrypsin_Deficiency				T	94847443	C	T	94847443	3	4	106	1	0	0	0	0	1	0	0	0	14086	893	31	1	586	1	SERPINA1	14	94847443	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	13103333	94847443	12502097	124	73526											
DUOX1	53905	broad.mit.edu	37	chr15	45428813	45428813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccatggtgccccctggcGtctacatgaggtgagggagg	15	12	1	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr15:45428813G>A	uc001zus.1	+	10	1358	c.1012G>A	c.(1012-1014)GTC>ATC	p.V338I	DUOX1_uc001zut.1_Missense_Mutation_p.V338I|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	338	Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCCCCCTGGCGTCTACATGAG	0.587													A	45428813	G	A	45428813	3	1	106	1	0	0	0	0	1	0	0	0	4800	1145	40	1	1042	1	DUOX1	15	45428813	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08		45428813	57102579	125	73527											
MAP2K1	5604	broad.mit.edu	37	chr15	66729154	66729154	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaggttctgcatgagtGcaactctccgtacatcgtgg	12	11	2	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr15:66729154G>C	uc010bhq.2	+	3	837	c.362G>C	c.(361-363)TGC>TCC	p.C121S	MAP2K1_uc010ujp.1_Missense_Mutation_p.C99S	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	121	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						CTGCATGAGTGCAACTCTCCG	0.502									Cardiofaciocutaneous_syndrome				C	66729154	G	C	66729154	3	2	106	1	0	0	0	0	1	0	0	0	9236	1319	46	5	372	5	MAP2K1	15	66729154	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	21300341	66729154	35802238	126	73528											
PEX11A	8800	broad.mit.edu	37	chr15	90226909	90226909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgccctgtcacatgtaactCgtttcatctgcagggagatt	9	10	3	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr15:90226909C>T	uc002boi.2	-	3	538	c.443G>A	c.(442-444)CGA>CAA	p.R148Q	PEX11A_uc010upy.1_RNA	NM_003847	NP_003838	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	148	Lumenal (Potential).				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane					0	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ACATGTAACTCGTTTCATCTG	0.478													T	90226909	C	T	90226909	3	4	106	1	0	0	0	0	1	0	0	0	11737	884	31	1	304	1	PEX11A	15	90226909	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	23497755	90226909	12304483	127	73529											
WDR90	197335	broad.mit.edu	37	chr16	711480	711480	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccctggccttctcaccagatGacaggcttcttgtcacactg	8	15	3	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr16:711480G>T	uc002cii.1	+	30	3706	c.3652G>T	c.(3652-3654)GAC>TAC	p.D1218Y	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.D745Y|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Missense_Mutation_p.D392Y|WDR90_uc002cin.1_5'UTR	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1218	WD 13.									ovary(1)	1		Hepatocellular(780;0.0218)				CTCACCAGATGACAGGCTTCT	0.642													T	711480	G	T	711480	3	4	106	1	0	0	0	0	1	0	0	0	17334	1290	45	5	3770	5	WDR90	16	711480	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08		711480	89643273	128	73530											
CCDC78	124093	broad.mit.edu	37	chr16	775269	775269	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgctgctcattctcggGgttcatggtgttcttgggct	13	10	4	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr16:775269G>C	uc002cjg.2	-	5	566	c.460C>G	c.(460-462)CCC>GCC	p.P154A	CCDC78_uc002cjf.2_Missense_Mutation_p.P3A|CCDC78_uc002cji.3_Missense_Mutation_p.P228A|CCDC78_uc002cjj.3_Missense_Mutation_p.P98A|CCDC78_uc002cjh.2_5'UTR|CCDC78_uc010uuo.1_Missense_Mutation_p.P154A|CCDC78_uc002cjk.2_Missense_Mutation_p.P143A|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	154										central_nervous_system(1)	1		Hepatocellular(780;0.0218)				TCATTCTCGGGGTTCATGGTG	0.627													C	775269	G	C	775269	3	2	106	1	0	0	0	0	1	0	0	0	2852	1232	43	5	896	5	CCDC78	16	775269	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	63789	775269	89579484	129	73531											
KIAA0556	23247	broad.mit.edu	37	chr16	27752044	27752044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagggataaaggcctacGgcatgagccagggtggggga	19	8	0	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr16:27752044G>A	uc002dow.2	+	15	2450	c.2426G>A	c.(2425-2427)CGG>CAG	p.R809Q		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	809										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						AAAGGCCTACGGCATGAGCCA	0.597													A	27752044	G	A	27752044	3	1	106	1	0	0	0	0	1	0	0	0	8183	1116	39	1	2484	1	KIAA0556	16	27752044	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	26976775	27752044	62602709	130	73532											
MVP	9961	broad.mit.edu	37	chr16	29853242	29853242	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggctgtctctgcagcgtggtCttcgggcctgagctggtgtc	16	11	2	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr16:29853242C>A	uc002dui.2	+	10	1527	c.1443C>A	c.(1441-1443)GTC>GTA	p.V481V	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.1_RNA|MVP_uc002duj.2_Silent_p.V481V|MVP_uc010vea.1_Silent_p.V75V	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	481	MVP 9.				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						GCAGCGTGGTCTTCGGGCCTG	0.667													A	29853242	C	A	29853242	2	1	106	1	0	0	0	0	0	0	0	1	9996	900	32	5		5	MVP	16	29853242	Silent	SNP	C	TCGA-BR-8683-01A-11D-2394-08	2101198	29853242	60501511	131	73533											
DDX28	55794	broad.mit.edu	37	chr16	68055970	68055970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggatgtgcaccagctcgGccaccttatctgctcccttc	9	15	1	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr16:68055970G>A	uc002evh.1	-	1	1990	c.1136C>T	c.(1135-1137)GCC>GTC	p.A379V	DUS2L_uc002evi.2_5'Flank|DUS2L_uc002evj.2_5'Flank|DUS2L_uc010vkk.1_5'Flank	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	379	Helicase C-terminal.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		CACCAGCTCGGCCACCTTATC	0.522													A	68055970	G	A	68055970	3	1	106	1	0	0	0	0	1	0	0	0	4355	1203	42	2	490	2	DDX28	16	68055970	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	38202728	68055970	22298783	132	73534											
CHST6	4166	broad.mit.edu	37	chr16	75512895	75512895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatttctgccagcggctcccGcgccaggtcctcgaagcgca	12	16	1	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr16:75512895G>A	uc002fef.2	-	3	1012	c.832C>T	c.(832-834)CGG>TGG	p.R278W	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.R278W	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	278	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						AGCGGCTCCCGCGCCAGGTCC	0.667													A	75512895	G	A	75512895	3	1	106	1	0	0	0	0	1	0	0	0	3408	1086	38	1	359	1	CHST6	16	75512895	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	7456925	75512895	14841858	133	73535											
TP53	7157	broad.mit.edu	37	chr17	7577606	7577606	+	Frame_Shift_Del	DEL	A	A	-													atggtggtacagtcagagccAacctaggagataacacaggc							TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr17:7577606delA	uc002gim.2	-	7	869	c.675delT	c.(673-675)GTTfs	p.V225fs	TP53_uc002gig.1_Frame_Shift_Del_p.V225fs|TP53_uc002gih.2_Frame_Shift_Del_p.V225fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.V93fs|TP53_uc010cng.1_Frame_Shift_Del_p.V93fs|TP53_uc002gii.1_Frame_Shift_Del_p.V93fs|TP53_uc010cnh.1_Frame_Shift_Del_p.V225fs|TP53_uc010cni.1_Frame_Shift_Del_p.V225fs|TP53_uc002gij.2_Frame_Shift_Del_p.V225fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.V132fs|TP53_uc002gio.2_Frame_Shift_Del_p.V93fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	225	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		V -> F (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in a sporadic cancer; somatic mutation).|V -> G (in a sporadic cancer; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> D (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.V225A(3)|p.V225F(2)|p.V225_S227delVGS(2)|p.V225I(1)|p.V225D(1)|p.V225>XXXXXXXXXXXXXXXXXXXXXXXX(1)|p.V225fs*3(1)|p.E224_V225insXX(1)|p.V225fs*24(1)|p.V225fs*23(1)|p.V225fs*22(1)|p.V225V(1)|p.V225_G226delVG(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGTCAGAGCCAACCTAGGAGA	0.493		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			-	7577606	A	-	7577606	7	5	106	1	0	1	0	1	0	0	0	0	16378	117	5	0	615	0	TP53	17	7577606	Frame_Shift_Del	DEL	A	TCGA-BR-8683-01A-11D-2394-08		7577606	73617604	134	73536											
PIK3R5	23533	broad.mit.edu	37	chr17	8792137	8792137	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcctcctcctcctcttcctCctcttcatcatctcccagga	2	21	5	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr17:8792137C>A	uc002glt.2	-	10	1034	c.967G>T	c.(967-969)GAG>TAG	p.E323*	PIK3R5_uc010vuz.1_Nonsense_Mutation_p.E323*|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Missense_Mutation_p.R271S|PIK3R5_uc010cob.1_5'UTR	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	323				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						tcctcttcctcctcttcATCA	0.463													A	8792137	C	A	8792137	4	1	106	1	0	0	0	0	0	1	0	0	11922	864	30	5	1715	5	PIK3R5	17	8792137	Nonsense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	1214531	8792137	72403073	135	73537											
MYH13	8735	broad.mit.edu	37	chr17	10216579	10216579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagcgccctctgcagctcGgccttggcttcctgctcctc	10	18	1	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr17:10216579G>A	uc002gmk.1	-	30	4167	c.4077C>T	c.(4075-4077)GCC>GCT	p.A1359A		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1359	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TCTGCAGCTCGGCCTTGGCTT	0.632													A	10216579	G	A	10216579	2	1	106	1	0	0	0	0	0	0	0	1	10032	1103	39	1		1	MYH13	17	10216579	Silent	SNP	G	TCGA-BR-8683-01A-11D-2394-08	1424442	10216579	70978631	136	73538											
COX10	1352	broad.mit.edu	37	chr17	13980159	13980159	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtcaagccaaagcagaAatatatgagatgagacctct	9	8	3	3			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr17:13980159A>G	uc002gof.3	+	3	489	c.285A>G	c.(283-285)GAA>GAG	p.E95E	COX10_uc010vvs.1_Intron|COX10_uc010vvt.1_5'UTR	NM_001303	NP_001294	Q12887	COX10_HUMAN	heme A:farnesyltransferase precursor	95					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity				0		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CCAAAGCAGAAATATATGAGA	0.443													G	13980159	A	G	13980159	2	3	106	1	0	0	0	0	0	0	0	1	3762	11	1	3		3	COX10	17	13980159	Silent	SNP	A	TCGA-BR-8683-01A-11D-2394-08	3763580	13980159	67215051	137	73539											
KRTAP1-5	83895	broad.mit.edu	37	chr17	39183049	39183049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccacacgactgtctgggCggcaccacctgatacgggtg	12	15	1	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr17:39183049C>T	uc002hvu.2	-	1	406	c.359G>A	c.(358-360)CGC>CAC	p.R120H		NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	keratin associated protein 1.5	120	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament					0		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGTCTGGGCGGCACCACCT	0.647													T	39183049	C	T	39183049	3	4	106	1	0	0	0	0	1	0	0	0	8504	768	27	1	169	1	KRTAP1-5	17	39183049	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	25202890	39183049	42012161	138	73540											
SGCA	6442	broad.mit.edu	37	chr17	48252711	48252711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccccggccactctccacCctgcccatgttcaatgtgca	8	18	2	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr17:48252711C>T	uc002iqi.2	+	9	1113	c.1077C>T	c.(1075-1077)ACC>ACT	p.T359T	SGCA_uc002iqj.2_Silent_p.T235T|SGCA_uc010wmi.1_RNA|HILS1_uc010wmj.1_5'Flank|HILS1_uc002iqk.2_Intron|HILS1_uc002iql.2_5'Flank	NM_000023	NP_000014	Q16586	SGCA_HUMAN	sarcoglycan, alpha isoform 1 precursor	359	Cytoplasmic (Potential).				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(2)	2						CACTCTCCACCCTGCCCATGT	0.667													T	48252711	C	T	48252711	2	4	106	1	0	0	0	0	0	0	0	1	14199	610	22	4		4	SGCA	17	48252711	Silent	SNP	C	TCGA-BR-8683-01A-11D-2394-08	9069662	48252711	32942499	139	73541											
FBF1	85302	broad.mit.edu	37	chr17	73915948	73915948	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgatgtttctagcaccttgaTgcggcttctgccaacagaac	9	12	2	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr17:73915948T>A	uc002jqc.2	-	19	2168	c.1894A>T	c.(1894-1896)ATC>TTC	p.I632F	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.I623F|FBF1_uc002jqd.1_Missense_Mutation_p.I633F|FBF1_uc002jqb.2_RNA|FBF1_uc010dgr.1_5'UTR	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	632											0						AGCACCTTGATGCGGCTTCTG	0.612													A	73915948	T	A	73915948	3	1	106	1	0	0	0	0	1	0	0	0	5695	1464	51	5	1551	5	FBF1	17	73915948	Missense_Mutation	SNP	T	TCGA-BR-8683-01A-11D-2394-08	25663237	73915948	7279262	140	73542											
DLGAP1	9229	broad.mit.edu	37	chr18	3742442	3742442	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggctccggttgatggAgacttcactcactgccctca	10	14	3	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr18:3742442A>G	uc002kmf.2	-	3	1310	c.1243T>C	c.(1243-1245)TCC>CCC	p.S415P	DLGAP1_uc010wyz.1_Missense_Mutation_p.S415P|DLGAP1_uc002kme.1_Missense_Mutation_p.S113P|DLGAP1_uc010dkn.2_Missense_Mutation_p.S113P|DLGAP1_uc010wyw.1_Missense_Mutation_p.S121P|DLGAP1_uc010wyx.1_Missense_Mutation_p.S127P|DLGAP1_uc010wyy.1_Missense_Mutation_p.S127P|DLGAP1_uc002kmg.2_Missense_Mutation_p.S113P|DLGAP1_uc002kmk.2_Missense_Mutation_p.S415P	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	415					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				CGGTTGATGGAGACTTCACTC	0.527													G	3742442	A	G	3742442	3	3	106	1	0	0	0	0	1	0	0	0	4559	304	11	3	1722	3	DLGAP1	18	3742442	Missense_Mutation	SNP	A	TCGA-BR-8683-01A-11D-2394-08		3742442	74334806	141	73543											
LRRC30	339291	broad.mit.edu	37	chr18	7231917	7231917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtagactggtgaggatcGcctggaatcccatggacaaa	13	8	0	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr18:7231917G>A	uc010wzk.1	+	1	781	c.781G>A	c.(781-783)GCC>ACC	p.A261T		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	261										ovary(1)|liver(1)	2						GGTGAGGATCGCCTGGAATCC	0.582													A	7231917	G	A	7231917	3	1	106	1	0	0	0	0	1	0	0	0	8985	1087	38	1	783	1	LRRC30	18	7231917	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	3489475	7231917	70845331	142	73544											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60036280	60036280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacctcctttctctgaacCcctggaggtgggggagaatg	12	12	1	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr18:60036280C>T	uc002lin.2	+	9	1168	c.1130C>T	c.(1129-1131)CCC>CTC	p.P377L	TNFRSF11A_uc010dpv.2_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily,	377	Cytoplasmic (Potential).				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(2)|lung(1)	3		Colorectal(73;0.188)				TTCTCTGAACCCCTGGAGGTG	0.557									Paget_Disease_of_Bone				T	60036280	C	T	60036280	3	4	106	1	0	0	0	0	1	0	0	0	16281	623	22	4	1164	4	TNFRSF11A	18	60036280	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	52804363	60036280	18040968	143	73545											
SF3A2	8175	broad.mit.edu	37	chr19	2247812	2247812	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggagaagcccccggctccacCcagcctccctgctggccccc	10	22	0	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr19:2247812C>G	uc002lvg.2	+	9	784	c.662C>G	c.(661-663)CCC>CGC	p.P221R	AMH_uc002lvh.2_5'Flank|hsa-mir-4321|MI0015852_5'Flank	NM_007165	NP_009096	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2	221	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGCTCCACCCAGCCTCCCT	0.662													G	2247812	C	G	2247812	3	3	106	1	0	0	0	0	1	0	0	0	14147	623	22	5	692	5	SF3A2	19	2247812	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08		2247812	56881171	144	73546											
C19orf29	58509	broad.mit.edu	37	chr19	3623842	3623842	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcgcgcttctcctcgggCgtctcgaaggccttcatcag	12	15	4	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr19:3623842C>T	uc002lyh.2	-	2	539	c.486G>A	c.(484-486)ACG>ACA	p.T162T	C19orf29_uc010dtn.2_5'Flank|C19orf29_uc002lyi.3_Silent_p.T162T|C19orf29_uc010dto.2_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	162	Potential.					catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCCTCGGGCGTCTCGAAGG	0.682													T	3623842	C	T	3623842	2	4	106	1	0	0	0	0	0	0	0	1	1918	755	27	1		1	C19orf29	19	3623842	Silent	SNP	C	TCGA-BR-8683-01A-11D-2394-08	1376030	3623842	55505141	145	73547											
HNRNPM	4670	broad.mit.edu	37	chr19	8531211	8531211	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attcttgaagataaagatggAaaaagtcgtggaataggcac	11	4	1	3			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr19:8531211A>C	uc010dwe.2	+	7	803	c.723A>C	c.(721-723)GGA>GGC	p.G241G	HNRNPM_uc010dwc.1_Silent_p.G241G|HNRNPM_uc010xke.1_Silent_p.G202G|HNRNPM_uc010dwd.2_Silent_p.G202G|HNRNPM_uc002mka.2_Silent_p.G121G	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	241	RRM 2.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0						ATAAAGATGGAAAAAGTCGTG	0.403													C	8531211	A	C	8531211	2	2	106	1	0	0	0	0	0	0	0	1	7271	233	9	5		5	HNRNPM	19	8531211	Silent	SNP	A	TCGA-BR-8683-01A-11D-2394-08	4907369	8531211	50597772	146	73548											
CYP4F22	126410	broad.mit.edu	37	chr19	15636337	15636337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcttcccccagcctcccCggcgcaactggctgctgggc	12	19	0	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr19:15636337C>T	uc002nbh.3	+	3	357	c.190C>T	c.(190-192)CGG>TGG	p.R64W		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	64						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2						CCAGCCTCCCCGGCGCAACTG	0.527													T	15636337	C	T	15636337	3	4	106	1	0	0	0	0	1	0	0	0	4189	643	23	1	192	1	CYP4F22	19	15636337	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	7105126	15636337	43492646	147	73549											
ZNF626	199777	broad.mit.edu	37	chr19	20808009	20808009	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacatttgtagggtttctctCcagtatgaattttcttatgt	7	7	2	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr19:20808009C>A	uc002npb.1	-	4	824	c.674G>T	c.(673-675)GGA>GTA	p.G225V	ZNF626_uc002npc.1_Missense_Mutation_p.G149V	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						GGGTTTCTCTCCAGTATGAAT	0.393													A	20808009	C	A	20808009	3	1	106	1	0	0	0	0	1	0	0	0	18047	855	30	5	916	5	ZNF626	19	20808009	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	5171672	20808009	38320974	148	73550											
ZNF429	353088	broad.mit.edu	37	chr19	21720043	21720043	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcatactggagaggaaccCtacaaatttgaaaaatgtgg	9	6	1	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr19:21720043C>T	uc002nqd.1	+	4	1325	c.1188C>T	c.(1186-1188)CCC>CCT	p.P396P	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GAGAGGAACCCTACAAATTTG	0.368													T	21720043	C	T	21720043	2	4	106	1	0	0	0	0	0	0	0	1	17899	668	24	4		4	ZNF429	19	21720043	Silent	SNP	C	TCGA-BR-8683-01A-11D-2394-08	912034	21720043	37408940	149	73551											
TBCB	1155	broad.mit.edu	37	chr19	36611658	36611658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtgagtatgaggacgtgtCccgggtggagaagtacacga	17	6	0	3			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr19:36611658C>T	uc002odg.1	+	3	880	c.305C>T	c.(304-306)TCC>TTC	p.S102F	TBCB_uc002odh.1_Missense_Mutation_p.S83F	NM_001281	NP_001272	Q99426	TBCB_HUMAN	cytoskeleton associated protein 1	102					'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAGGACGTGTCCCGGGTGGAG	0.647													T	36611658	C	T	36611658	3	4	106	1	0	0	0	0	1	0	0	0	15627	855	30	4	315	4	TBCB	19	36611658	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	14891615	36611658	22517325	150	73552											
LRFN1	57622	broad.mit.edu	37	chr19	39805434	39805434	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttcaccatctggcccacCgcctcccacggcagggcctc	10	19	2	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr19:39805434C>T	uc002okw.2	-	1	543	c.543G>A	c.(541-543)GCG>GCA	p.A181A		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	181	LRR 5.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TCTGGCCCACCGCCTCCCACG	0.632													T	39805434	C	T	39805434	2	4	106	1	0	0	0	0	0	0	0	1	8937	639	23	1		1	LRFN1	19	39805434	Silent	SNP	C	TCGA-BR-8683-01A-11D-2394-08	3193776	39805434	19323549	151	73553											
EGLN2	112398	broad.mit.edu	37	chr19	41307124	41307124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggaggccctcaaacgggGtgggcgcctgcgagacgggc	20	11	1	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr19:41307124G>A	uc010ehd.2	+	8	1648	c.647G>A	c.(646-648)GGT>GAT	p.G216D	EGLN2_uc002opg.3_Missense_Mutation_p.G216D|EGLN2_uc002oph.2_Missense_Mutation_p.G216D|EGLN2_uc002opi.2_Missense_Mutation_p.G216D	NM_080732	NP_542770	Q96KS0	EGLN2_HUMAN	EGL nine (C.elegans) homolog 2	216					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	CTCAAACGGGGTGGGCGCCTG	0.687													A	41307124	G	A	41307124	3	1	106	1	0	0	0	0	1	0	0	0	4969	1261	44	4	649	4	EGLN2	19	41307124	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	1501690	41307124	17821859	152	73554											
LILRB5	10990	broad.mit.edu	37	chr19	54760505	54760505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggttctgtctcttccgggCccatgggagtccctccttat	11	13	2	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr19:54760505C>T	uc002qex.2	-	3	313	c.202G>A	c.(202-204)GCC>ACC	p.A68T	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.A68T|LILRB5_uc002qey.2_Missense_Mutation_p.A68T|LILRB5_uc002qez.2_Missense_Mutation_p.A68T|LILRB5_uc002qfa.1_Missense_Mutation_p.A58T|LILRB5_uc010yes.1_RNA	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	68	Ig-like C2-type 1.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTCTTCCGGGCCCATGGGAGT	0.607													T	54760505	C	T	54760505	3	4	106	1	0	0	0	0	1	0	0	0	8794	739	26	2	1617	2	LILRB5	19	54760505	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	13453381	54760505	4368478	153	73555											
NLRP7	199713	broad.mit.edu	37	chr19	55447693	55447693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatcagcatcatcgtgcGttcccactcgatgtgccctg	9	15	2	0	rs143673542		TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr19:55447693G>A	uc002qih.3	-	6	2312	c.2236C>T	c.(2236-2238)CGC>TGC	p.R746C	NLRP7_uc002qig.3_Missense_Mutation_p.R718C|NLRP7_uc002qii.3_Missense_Mutation_p.R746C|NLRP7_uc010esk.2_Missense_Mutation_p.R746C|NLRP7_uc010esl.2_Missense_Mutation_p.R774C	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	746							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		ATCATCGTGCGTTCCCACTCG	0.572													A	55447693	G	A	55447693	3	1	106	1	0	0	0	0	1	0	0	0	10482	1145	40	1	901	1	NLRP7	19	55447693	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	687188	55447693	3681290	154	73556											
ZNF417	147687	broad.mit.edu	37	chr19	58420784	58420784	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctttccagtgtggactcGctgatgttgaataaggctgc	12	8	1	2	rs149986649	byFrequency	TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr19:58420784G>A	uc002qqq.2	-	3	1061	c.862C>T	c.(862-864)CGA>TGA	p.R288*	ZNF417_uc010yhm.1_Nonsense_Mutation_p.R245*|ZNF417_uc002qqr.2_Nonsense_Mutation_p.R287*	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	288	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		GTGTGGACTCGCTGATGTTGA	0.463													A	58420784	G	A	58420784	4	1	106	1	0	0	0	0	0	1	0	0	17891	1095	38	1	869	1	ZNF417	19	58420784	Nonsense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	2973091	58420784	708199	155	73557											
CHGB	1114	broad.mit.edu	37	chr20	5903632	5903632	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacaaacgacgcacgaggcCcagacaccaccacgggagga	13	14	0	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr20:5903632C>A	uc002wmg.2	+	4	1148	c.842C>A	c.(841-843)CCC>CAC	p.P281H	CHGB_uc010zqz.1_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	281						extracellular region	hormone activity			breast(3)|skin(2)|ovary(1)	6						CGCACGAGGCCCAGACACCAC	0.592													A	5903632	C	A	5903632	3	1	106	1	0	0	0	0	1	0	0	0	3339	623	22	5	856	5	CHGB	20	5903632	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08		5903632	57121888	156	73558											
SGK2	10110	broad.mit.edu	37	chr20	42213598	42213598	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggccagcagctctggggcctCaagtgcattcctgggatttt	13	11	2	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr20:42213598C>T	uc002xkv.2	+	12	1445	c.1226C>T	c.(1225-1227)TCA>TTA	p.S409L	SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Missense_Mutation_p.S349L|SGK2_uc010ggm.2_3'UTR|SGK2_uc002xks.2_Missense_Mutation_p.S348L|SGK2_uc002xku.2_Missense_Mutation_p.S349L	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2 isoform	409	AGC-kinase C-terminal.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	6		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCTGGGGCCTCAAGTGCATTC	0.507													T	42213598	C	T	42213598	3	4	106	1	0	0	0	0	1	0	0	0	14209	838	29	4	1272	4	SGK2	20	42213598	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	36309966	42213598	20811922	157	73559											
COL20A1	57642	broad.mit.edu	37	chr20	61956812	61956812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtccaccaggggtcaaagGagagaagggagaccatgggc	18	8	1	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr20:61956812G>A	uc011aau.1	+	28	3414	c.3314G>A	c.(3313-3315)GGA>GAA	p.G1105E	COL20A1_uc011aav.1_Missense_Mutation_p.G926E	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1105	Collagen-like 1.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					GGGGTCAAAGGAGAGAAGGGA	0.657													A	61956812	G	A	61956812	3	1	106	1	0	0	0	0	1	0	0	0	3679	1174	41	4	3420	4	COL20A1	20	61956812	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	19743214	61956812	1068708	158	73560											
OPRL1	4987	broad.mit.edu	37	chr20	62729814	62729814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagaaggaccggaacctgCggcgcatcactcggctggtg	16	11	1	1	rs148484121	byFrequency	TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr20:62729814C>T	uc002yic.2	+	5	1177	c.775C>T	c.(775-777)CGG>TGG	p.R259W	OPRL1_uc002yid.2_Missense_Mutation_p.R259W|OPRL1_uc002yif.3_Missense_Mutation_p.R254W	NM_182647	NP_872588	P41146	OPRX_HUMAN	opiate receptor-like 1	259	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CCGGAACCTGCGGCGCATCAC	0.667													T	62729814	C	T	62729814	3	4	106	1	0	0	0	0	1	0	0	0	10886	759	27	1	785	1	OPRL1	20	62729814	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	773002	62729814	295706	159	73561											
SON	6651	broad.mit.edu	37	chr21	34927514	34927514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacccctagccgtcggagcCgcaccccaagccgccggaga	12	19	0	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr21:34927514C>T	uc002yse.1	+	3	6026	c.5977C>T	c.(5977-5979)CGC>TGC	p.R1993C	SON_uc002ysb.1_Missense_Mutation_p.R1993C|SON_uc002ysc.2_Missense_Mutation_p.R1993C|SON_uc002ysd.2_Missense_Mutation_p.R984C|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.R984C	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1993	2-7.|2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS].				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						ccgtcggagccgcaccccaag	0.184													T	34927514	C	T	34927514	3	4	106	1	0	0	0	0	1	0	0	0	14926	652	23	1	5987	1	SON	21	34927514	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08		34927514	13202381	160	73562											
UBASH3A	53347	broad.mit.edu	37	chr21	43829575	43829575	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccctagacgaccccatccCccaggagtatgcccttttcc	6	18	0	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr21:43829575C>A	uc002zbe.2	+	3	248	c.212C>A	c.(211-213)CCC>CAC	p.P71H	UBASH3A_uc002zbf.2_Missense_Mutation_p.P71H|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.P71H	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	71						cytosol|nucleus				ovary(3)	3						GACCCCATCCCCCAGGAGTAT	0.537													A	43829575	C	A	43829575	3	1	106	1	0	0	0	0	1	0	0	0	16836	623	22	5	222	5	UBASH3A	21	43829575	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08	8902061	43829575	4300320	161	73563											
SIK1	150094	broad.mit.edu	37	chr21	44841177	44841177	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcaaagacttccggggcGgcatacggggggctcccaca	13	15	1	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr21:44841177G>A	uc002zdf.2	-	6	697	c.570C>T	c.(568-570)GCC>GCT	p.A190A		NM_173354	NP_775490	P57059	SIK1_HUMAN	salt-inducible kinase 1	190	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1)	7						CTTCCGGGGCGGCATACGGGG	0.597													A	44841177	G	A	44841177	2	1	106	1	0	0	0	0	0	0	0	1	14317	1103	39	1		1	SIK1	21	44841177	Silent	SNP	G	TCGA-BR-8683-01A-11D-2394-08	1011602	44841177	3288718	162	73564											
RRP1B	23076	broad.mit.edu	37	chr21	45096660	45096660	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgtcttcgaagctatcGtagatcagtctccttttgtg	12	8	3	1			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr21:45096660G>C	uc002zdk.2	+	8	775	c.661G>C	c.(661-663)GTA>CTA	p.V221L		NM_015056	NP_055871	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1 homolog B	221					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.178)		CGAAGCTATCGTAGATCAGTC	0.517													C	45096660	G	C	45096660	3	2	106	1	0	0	0	0	1	0	0	0	13688	1145	40	5	691	5	RRP1B	21	45096660	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	255483	45096660	3033235	163	73565											
ARVCF	421	broad.mit.edu	37	chr22	19969506	19969506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcggatgtgacaatagacaCatgggaagtgggtgtgccgg	16	6	0	2			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr22:19969506C>T	uc002zqz.2	-	4	590	c.319G>A	c.(319-321)GTG>ATG	p.V107M	ARVCF_uc002zqy.2_5'Flank|ARVCF_uc002zra.2_Missense_Mutation_p.V107M	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	107					cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					ACAATAGACACATGGGAAGTG	0.657													T	19969506	C	T	19969506	3	4	106	1	0	0	0	0	1	0	0	0	1003	478	17	4	2633	4	ARVCF	22	19969506	Missense_Mutation	SNP	C	TCGA-BR-8683-01A-11D-2394-08		19969506	31335060	164	73566											
MMP11	4320	broad.mit.edu	37	chr22	24125616	24125616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctatgcctacttcctgcGcggccgcctctactggaagt	11	14	1	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr22:24125616G>A	uc002zxx.2	+	8	1374	c.1352G>A	c.(1351-1353)CGC>CAC	p.R451H	MMP11_uc002zxy.2_RNA|MMP11_uc002zxz.2_RNA	NM_005940	NP_005931	P24347	MMP11_HUMAN	matrix metalloproteinase 11 preproprotein	451	Hemopexin-like 4.				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(2)|large_intestine(1)	3		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				TACTTCCTGCGCGGCCGCCTC	0.627													A	24125616	G	A	24125616	3	1	106	1	0	0	0	0	1	0	0	0	9650	1087	38	1	1382	1	MMP11	22	24125616	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	4156110	24125616	27178950	165	73567											
GAS2L1	10634	broad.mit.edu	37	chr22	29708172	29708172	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcctgggtggcaaatgtGgccaacctggggactctggc	16	11	1	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr22:29708172G>T	uc003afa.1	+	7	1931	c.1732G>T	c.(1732-1734)GGC>TGC	p.G578C	GAS2L1_uc010gvm.1_Missense_Mutation_p.G351C|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Missense_Mutation_p.G578C|GAS2L1_uc003afd.1_3'UTR|GAS2L1_uc003afe.1_3'UTR	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1 isoform a	578					cell cycle arrest	cytoplasm|cytoskeleton					0						TGGCAAATGTGGCCAACCTGG	0.662													T	29708172	G	T	29708172	3	4	106	1	0	0	0	0	1	0	0	0	6246	1335	47	5	1753	5	GAS2L1	22	29708172	Missense_Mutation	SNP	G	TCGA-BR-8683-01A-11D-2394-08	5582556	29708172	21596394	166	73568											
P2RY10	27334	broad.mit.edu	37	chrX	78216284	78216284	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgtattatctttacccctCcggatttactattacatcag	4	11	2	0			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chrX:78216284C>T	uc004ede.2	+	4	636	c.267C>T	c.(265-267)CTC>CTT	p.L89L	P2RY10_uc004edf.2_Silent_p.L89L	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	89	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5						CTTTACCCCTCCGGATTTACT	0.453													T	78216284	C	T	78216284	2	4	106	1	0	0	0	0	0	0	0	1	11347	842	30	4		4	P2RY10	23	78216284	Silent	SNP	C	TCGA-BR-8683-01A-11D-2394-08		78216284	77054276	167	73569											
SRRM1	10250	broad.mit.edu	37	chr1	24981344	24981346	+	Splice_Site	DEL	AGA	AGA	-													atatgaatactttattccacAgaagaagacgttcgtcagca							TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:24981343_24981345CAGA>C	uc001bjm.3	+	9	1265	c.1041_splice	c.e9-1	p.R347_splice	SRRM1_uc010oel.2_Splice_Site_p.R347_splice|SRRM1_uc009vrh.1_Splice_Site_p.R308_splice|SRRM1_uc009vri.1_Splice_Site_p.R264_splice|SRRM1_uc010oem.1_Splice_Site	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	347	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CTTTATTCCACAGAAGAAGACGT	0.419													-	24981346	AGA	-	24981344	8	5	107	1	0	1	0	1	0	0	1	0	15167	202	7	0	1073	0	SRRM1	1	24981344	Splice_Site	DEL	AGA	TCGA-BR-8686-01A-11D-2394-08		24981344	224269277	1	73570											
ARID1A	8289	broad.mit.edu	37	chr1	27089494	27089494	+	Frame_Shift_Del	DEL	C	C	-													caggcagccaaactataatgCcttgcccaatgccaactacc							TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:27089493_27089493GC>G	uc001bmv.1	+	7	2822	c.2449_2449GC>G	c.(2449-2451)gccfs	p.A817fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.A817fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.A817fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.A434fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	817					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AAACTATAATGCCTTGCCCAA	0.532			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27089494	C	-	27089494	7	5	107	1	0	1	0	1	0	0	0	0	913	739	26	0	2480	0	ARID1A	1	27089494	Frame_Shift_Del	DEL	C	TCGA-BR-8686-01A-11D-2394-08	2108150	27089494	222161127	2	73571											
MPL	4352	broad.mit.edu	37	chr1	43817973	43817973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacactgcagccctgagccCggtgagtgtgcttccctccc	12	16	0	2			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:43817973C>T	uc001ciw.2	+	11	1697	c.1652C>T	c.(1651-1653)CCG>CTG	p.P551L	MPL_uc009vwr.2_Missense_Mutation_p.P544L	NM_005373	NP_005364	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	551	Cytoplasmic (Potential).				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCCTGAGCCCGGTGAGTGTG	0.607			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						T	43817973	C	T	43817973	3	4	107	1	0	0	0	0	1	0	0	0	9730	666	23	1	1694	1	MPL	1	43817973	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	16728479	43817973	205432648	3	73572											
C1orf175	374977	broad.mit.edu	37	chr1	55119744	55119744	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagttggagtgagatggccaGcattaaggtgggccagttcc	16	7	0	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:55119744G>C	uc010ooe.1	+	3	1469	c.1145G>C	c.(1144-1146)AGC>ACC	p.S382T	C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Missense_Mutation_p.S382T|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.S382T|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	382						integral to membrane	binding				0						GAGATGGCCAGCATTAAGGTG	0.602													C	55119744	G	C	55119744	3	2	107	1	0	0	0	0	1	0	0	0	2016	971	34	5	1147	5	C1orf175	1	55119744	Missense_Mutation	SNP	G	TCGA-BR-8686-01A-11D-2394-08	11301771	55119744	194130877	4	73573											
DNAJC6	9829	broad.mit.edu	37	chr1	65855119	65855119	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaggaacatcaagatacGctggccttaggaggtatgag	12	9	1	2	rs148673423		TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:65855119G>A	uc001dcd.1	+	10	1367	c.1203G>A	c.(1201-1203)ACG>ACA	p.T401T	DNAJC6_uc001dcc.1_Silent_p.T432T|DNAJC6_uc010opc.1_Silent_p.T388T|DNAJC6_uc001dce.1_Silent_p.T458T	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	401					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						ATCAAGATACGCTGGCCTTAG	0.413													A	65855119	G	A	65855119	2	1	107	1	0	0	0	0	0	0	0	1	4653	1074	38	1		1	DNAJC6	1	65855119	Silent	SNP	G	TCGA-BR-8686-01A-11D-2394-08	10735375	65855119	183395502	5	73574											
SH3GLB1	51100	broad.mit.edu	37	chr1	87188235	87188235	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcaggtaatgcccttaTtaaatgtggagaaacccaaa	8	8	0	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:87188235T>G	uc001dlw.2	+	4	682	c.356T>G	c.(355-357)ATT>AGT	p.I119S	SH3GLB1_uc001dlx.2_Missense_Mutation_p.I119S|SH3GLB1_uc001dly.2_Missense_Mutation_p.I119S|SH3GLB1_uc001dlz.2_Missense_Mutation_p.I19S	NM_016009	NP_057093	Q9Y371	SHLB1_HUMAN	SH3-containing protein SH3GLB1	119	BAR.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding				0		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		AATGCCCTTATTAAATGTGGA	0.308													G	87188235	T	G	87188235	3	3	107	1	0	0	0	0	1	0	0	0	14253	1493	52	5	370	5	SH3GLB1	1	87188235	Missense_Mutation	SNP	T	TCGA-BR-8686-01A-11D-2394-08	21333116	87188235	162062386	6	73575											
ABCA4	24	broad.mit.edu	37	chr1	94568687	94568687	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaagatatcccttattcGtattcctcttcctacatatg	3	11	2	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:94568687G>A	uc001dqh.2	-	5	558	c.454C>T	c.(454-456)CGA>TGA	p.R152*	ABCA4_uc010otn.1_Nonsense_Mutation_p.R152*	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	152	Extracellular.		R -> Q.		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCCTTATTCGTATTCCTCTT	0.393													A	94568687	G	A	94568687	4	1	107	1	0	0	0	0	0	1	0	0	34	1153	40	1	6551	1	ABCA4	1	94568687	Nonsense_Mutation	SNP	G	TCGA-BR-8686-01A-11D-2394-08	7380452	94568687	154681934	7	73576											
SLC6A17	388662	broad.mit.edu	37	chr1	110716597	110716597	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagtgggcttgtccccaggtCtgtctctttgtggggctgta	14	10	2	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:110716597C>A	uc009wfq.2	+	4	908	c.447C>A	c.(445-447)GTC>GTA	p.V149V		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	149	Helical; Name=3; (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GTCCCCAGGTCTGTCTCTTTG	0.587													A	110716597	C	A	110716597	2	1	107	1	0	0	0	0	0	0	0	1	14680	900	32	5		5	SLC6A17	1	110716597	Silent	SNP	C	TCGA-BR-8686-01A-11D-2394-08	16147910	110716597	138534024	8	73577											
SLC16A4	9122	broad.mit.edu	37	chr1	110925481	110925481	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caaaaacgaagagatgacatGatggatccaatccaaccaat	7	9	0	3			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:110925481G>A	uc001dzo.1	-	3	377	c.195C>T	c.(193-195)ATC>ATT	p.I65I	SLC16A4_uc009wfs.1_Silent_p.I65I|SLC16A4_uc001dzp.1_Silent_p.I65I|SLC16A4_uc010ovy.1_Intron|SLC16A4_uc001dzq.1_Intron|SLC16A4_uc010ovz.1_Intron	NM_004696	NP_004687	O15374	MOT5_HUMAN	solute carrier family 16, member 4	65	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			ovary(3)	3		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	GAGATGACATGATGGATCCAA	0.413													A	110925481	G	A	110925481	2	1	107	1	0	0	0	0	0	0	0	1	14410	1280	45	4		4	SLC16A4	1	110925481	Silent	SNP	G	TCGA-BR-8686-01A-11D-2394-08	208884	110925481	138325140	9	73578											
HIPK1	204851	broad.mit.edu	37	chr1	114484035	114484035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttggttctgctagtcacGtttccaaagctgtgtgctca	9	10	3	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:114484035G>A	uc001eem.2	+	2	1191	c.1030G>A	c.(1030-1032)GTT>ATT	p.V344I	HIPK1_uc001eel.2_Missense_Mutation_p.V344I|HIPK1_uc001een.2_Missense_Mutation_p.V344I	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	344	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCTAGTCACGTTTCCAAAGC	0.458													A	114484035	G	A	114484035	3	1	107	1	0	0	0	0	1	0	0	0	7116	1145	40	1	1032	1	HIPK1	1	114484035	Missense_Mutation	SNP	G	TCGA-BR-8686-01A-11D-2394-08	3558554	114484035	134766586	10	73579											
HAO2	51179	broad.mit.edu	37	chr1	119927488	119927488	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagctcccgaaggcctcCgatggttccaactctatgtg	10	13	1	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:119927488C>T	uc001ehq.1	+	5	725	c.373C>T	c.(373-375)CGA>TGA	p.R125*	HAO2_uc001ehr.1_Nonsense_Mutation_p.R125*	NM_001005783	NP_001005783	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2	125	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			ovary(2)|skin(2)	4	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		CGAAGGCCTCCGATGGTTCCA	0.488													T	119927488	C	T	119927488	4	4	107	1	0	0	0	0	0	1	0	0	6952	644	23	1	383	1	HAO2	1	119927488	Nonsense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	5443453	119927488	129323133	11	73580											
TCHH	7062	broad.mit.edu	37	chr1	152081617	152081617	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcgcggaattttctgTcacgctcttggcggcgcagc	11	14	4	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:152081617T>C	uc001ezp.2	-	2	4076	c.4076A>G	c.(4075-4077)GAC>GGC	p.D1359G	TCHH_uc009wne.1_Missense_Mutation_p.D1359G	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1359	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATTTTCTGTCACGCTCTTG	0.567													C	152081617	T	C	152081617	3	2	107	1	0	0	0	0	1	0	0	0	15697	1667	58	3	1759	3	TCHH	1	152081617	Missense_Mutation	SNP	T	TCGA-BR-8686-01A-11D-2394-08	32154129	152081617	97169004	12	73581											
S100A13	6284	broad.mit.edu	37	chr1	153598898	153598898	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcaaaggtgaagaaggtggtGaccacggtctcaatggactc	14	8	1	3			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:153598898G>A	uc001fcf.3	-	2	210	c.51C>T	c.(49-51)GTC>GTT	p.V17V	S100A13_uc001fcg.2_Silent_p.V17V|S100A13_uc009woh.2_Silent_p.V17V|S100A13_uc001fch.2_Silent_p.V17V|S100A13_uc001fci.2_Silent_p.V17V|S100A13_uc001fcj.2_Silent_p.V17V|S100A1_uc001fck.1_5'Flank|S100A1_uc001fcl.1_5'Flank	NM_001024213	NP_001019384	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	17					interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	AGAAGGTGGTGACCACGGTCT	0.557													A	153598898	G	A	153598898	2	1	107	1	0	0	0	0	0	0	0	1	13775	1277	45	4		4	S100A13	1	153598898	Silent	SNP	G	TCGA-BR-8686-01A-11D-2394-08	1517281	153598898	95651723	13	73582											
PVRL4	81607	broad.mit.edu	37	chr1	161044471	161044471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatggcagacgtagatgccGctgtgctcagtggtcagtgg	15	9	2	2	rs147409977	byFrequency	TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:161044471G>A	uc001fxo.2	-	5	1229	c.930C>T	c.(928-930)AGC>AGT	p.S310S	PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_Silent_p.S44S	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	310	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CGTAGATGCCGCTGTGCTCAG	0.557													A	161044471	G	A	161044471	2	1	107	1	0	0	0	0	0	0	0	1	12842	1078	38	1		1	PVRL4	1	161044471	Silent	SNP	G	TCGA-BR-8686-01A-11D-2394-08	7445573	161044471	88206150	14	73583											
TOR1AIP2	163590	broad.mit.edu	37	chr1	179815828	179815828	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aactctggcctggaaatttaTcttccaattggctaaactgg	8	9	2	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:179815828T>A	uc001gnk.2	-	6	1179	c.791A>T	c.(790-792)GAT>GTT	p.D264V	TOR1AIP2_uc001gnl.2_Missense_Mutation_p.D264V	NM_145034	NP_659471	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	264						endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1						TGGAAATTTATCTTCCAATTG	0.502													A	179815828	T	A	179815828	3	1	107	1	0	0	0	0	1	0	0	0	16370	1435	50	5	625	5	TOR1AIP2	1	179815828	Missense_Mutation	SNP	T	TCGA-BR-8686-01A-11D-2394-08	18771357	179815828	69434793	15	73584											
KCNH1	3756	broad.mit.edu	37	chr1	210857160	210857160	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcgcctgtagctttgcGtggtctggcaccccggaggt	15	13	1	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:210857160G>A	uc001hib.2	-	11	2603	c.2433C>T	c.(2431-2433)CAC>CAT	p.H811H	KCNH1_uc001hic.2_Silent_p.H784H	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	811	Cytoplasmic (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTAGCTTTGCGTGGTCTGGCA	0.672													A	210857160	G	A	210857160	2	1	107	1	0	0	0	0	0	0	0	1	8031	1136	40	1		1	KCNH1	1	210857160	Silent	SNP	G	TCGA-BR-8686-01A-11D-2394-08	31041332	210857160	38393461	16	73585											
PROX1	5629	broad.mit.edu	37	chr1	214170542	214170542	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcagcaacagagtttcCagcagctggtttcagcccga	11	12	1	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:214170542C>T	uc001hkh.2	+	2	936	c.664C>T	c.(664-666)CAG>TAG	p.Q222*	PROX1_uc001hkg.1_Nonsense_Mutation_p.Q222*	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	222					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		ACAGAGTTTCCAGCAGCTGGT	0.537													T	214170542	C	T	214170542	4	4	107	1	0	0	0	0	0	1	0	0	12560	595	21	4	666	4	PROX1	1	214170542	Nonsense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	3313382	214170542	35080079	17	73586											
TRIM67	440730	broad.mit.edu	37	chr1	231335945	231335945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagctgcgtcagtccaccGgactgatggagtactgcctg	13	11	1	2			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:231335945G>A	uc009xfn.1	+	4	1357	c.1315G>A	c.(1315-1317)GGA>AGA	p.G439R		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	439						cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TCAGTCCACCGGACTGATGGA	0.517													A	231335945	G	A	231335945	3	1	107	1	0	0	0	0	1	0	0	0	16537	1117	39	1	1329	1	TRIM67	1	231335945	Missense_Mutation	SNP	G	TCGA-BR-8686-01A-11D-2394-08	17165403	231335945	17914676	18	73587											
OR2C3	81472	broad.mit.edu	37	chr1	247695143	247695143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgatcttcaacacggccCgggcaatgtggccgtaagag	12	12	2	2	rs146068024	byFrequency	TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:247695143C>T	uc009xgy.2	-	2	1033	c.671G>A	c.(670-672)CGG>CAG	p.R224Q	C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C,	224	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CAACACGGCCCGGGCAATGTG	0.547													T	247695143	C	T	247695143	3	4	107	1	0	0	0	0	1	0	0	0	10993	652	23	1	295	1	OR2C3	1	247695143	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	16359198	247695143	1555478	19	73588											
OR2L8	391190	broad.mit.edu	37	chr1	248112179	248112179	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catggaaaattacaatcaaaCatcaactgatttcatcttat	3	8	4	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:248112179C>A	uc001idt.1	+	1	20	c.20C>A	c.(19-21)ACA>AAA	p.T7K	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	7	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TACAATCAAACATCAACTGAT	0.313													A	248112179	C	A	248112179	3	1	107	1	0	0	0	0	1	0	0	0	11009	478	17	5	22	5	OR2L8	1	248112179	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	417036	248112179	1138442	20	73589											
OR2M5	127059	broad.mit.edu	37	chr1	248308649	248308649	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcctcagtcaactgtTcctcatggacctcatgctca	5	16	5	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:248308649T>C	uc010pze.1	+	1	200	c.200T>C	c.(199-201)TTC>TCC	p.F67S		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			AGTCAACTGTTCCTCATGGAC	0.507													C	248308649	T	C	248308649	3	2	107	1	0	0	0	0	1	0	0	0	11013	1783	62	3	202	3	OR2M5	1	248308649	Missense_Mutation	SNP	T	TCGA-BR-8686-01A-11D-2394-08	196470	248308649	941972	21	73590											
TTC31	64427	broad.mit.edu	37	chr2	74719180	74719180	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaacagagccaggaactggCaagtgagatcctttctctct	9	11	2	2			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr2:74719180C>A	uc002slt.2	+	9	949	c.926C>A	c.(925-927)GCA>GAA	p.A309E	TTC31_uc002sls.2_3'UTR|TTC31_uc010yrv.1_Intron|TTC31_uc002slu.2_Missense_Mutation_p.A163E	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	309	TPR 1.						binding				0						CAGGAACTGGCAAGTGAGATC	0.577													A	74719180	C	A	74719180	3	1	107	1	0	0	0	0	1	0	0	0	16697	710	25	5	960	5	TTC31	2	74719180	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08		74719180	168480193	22	73591											
ATOH8	84913	broad.mit.edu	37	chr2	85981537	85981537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtcccggtaccggtgccGgtgccagtcccagtggcgcc	15	17	0	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr2:85981537G>A	uc002sqn.2	+	1	629	c.225G>A	c.(223-225)CCG>CCA	p.P75P	ATOH8_uc002sqm.3_Silent_p.P75P	NM_032827	NP_116216	Q96SQ7	ATOH8_HUMAN	atonal homolog 8	75	Pro-rich.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						TACCGGTGCCGGTGCCAGTCC	0.751													A	85981537	G	A	85981537	2	1	107	1	0	0	0	0	0	0	0	1	1114	1103	39	1		1	ATOH8	2	85981537	Silent	SNP	G	TCGA-BR-8686-01A-11D-2394-08	11262357	85981537	157217836	23	73592											
NPAS2	4862	broad.mit.edu	37	chr2	101606898	101606898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccagacttcagccatgatCggcagctcaggtacgagact	11	13	2	3			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr2:101606898C>T	uc002tap.1	+	18	2294	c.2008C>T	c.(2008-2010)CGG>TGG	p.R670W	NPAS2_uc010yvt.1_Missense_Mutation_p.R735W|NPAS2_uc010fit.1_Intron	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	670					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4						CAGCCATGATCGGCAGCTCAG	0.557													T	101606898	C	T	101606898	3	4	107	1	0	0	0	0	1	0	0	0	10563	875	31	1	2074	1	NPAS2	2	101606898	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	15625361	101606898	141592475	24	73593											
GALNT13	114805	broad.mit.edu	37	chr2	155099285	155099285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattattaggatggaagaaCgctctgggttaatacgtgcc	11	6	1	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr2:155099285C>T	uc002tyr.3	+	6	1120	c.553C>T	c.(553-555)CGC>TGC	p.R185C	GALNT13_uc002tyt.3_Missense_Mutation_p.R185C|GALNT13_uc010foc.1_Missense_Mutation_p.R4C	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	185	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						GATGGAAGAACGCTCTGGGTT	0.388													T	155099285	C	T	155099285	3	4	107	1	0	0	0	0	1	0	0	0	6211	536	19	1	567	1	GALNT13	2	155099285	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	53492387	155099285	88100088	25	73594											
PIKFYVE	200576	broad.mit.edu	37	chr2	209190439	209190439	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcttgcccggcgggtctcccTtgtgctttctttgcacctgt	11	14	2	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr2:209190439T>A	uc002vcz.2	+	20	3062	c.2904T>A	c.(2902-2904)CCT>CCA	p.P968P	PIKFYVE_uc010fun.1_Silent_p.P649P|PIKFYVE_uc002vcy.1_Silent_p.P912P	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	968					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						CGGGTCTCCCTTGTGCTTTCT	0.502													A	209190439	T	A	209190439	2	1	107	1	0	0	0	0	0	0	0	1	11924	1596	56	5		5	PIKFYVE	2	209190439	Silent	SNP	T	TCGA-BR-8686-01A-11D-2394-08	54091154	209190439	34008934	26	73595											
WNT7A	7476	broad.mit.edu	37	chr3	13860757	13860757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggtgggccgcttgttgCggctggcacgcacaggctcc	17	12	0	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr3:13860757C>T	uc003bye.1	-	4	1039	c.734G>A	c.(733-735)CGC>CAC	p.R245H		NM_004625	NP_004616	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family,	245					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			ovary(2)|breast(1)	3						CCGCTTGTTGCGGCTGGCACG	0.592													T	13860757	C	T	13860757	3	4	107	1	0	0	0	0	1	0	0	0	17391	768	27	1	319	1	WNT7A	3	13860757	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08		13860757	184161673	27	73596											
KCNH8	131096	broad.mit.edu	37	chr3	19295169	19295169	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaacttcatccttgccaatGcccaggtggctaagggtttc	10	12	1	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr3:19295169G>T	uc003cbk.1	+	2	295	c.100G>T	c.(100-102)GCC>TCC	p.A34S	KCNH8_uc011awe.1_Missense_Mutation_p.A34S|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	34	Cytoplasmic (Potential).|PAS.					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						CCTTGCCAATGCCCAGGTGGC	0.428													T	19295169	G	T	19295169	3	4	107	1	0	0	0	0	1	0	0	0	8038	1319	46	5	106	5	KCNH8	3	19295169	Missense_Mutation	SNP	G	TCGA-BR-8686-01A-11D-2394-08	5434412	19295169	178727261	28	73597											
LOC646498	646498	broad.mit.edu	37	chr3	49215093	49215093	+	Frame_Shift_Del	DEL	G	G	-													ctgtccttgtttaatgctctGgaccagtttagacactcaga					rs140986532	by1000genomes	TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr3:49215093delG	uc011bcj.1	-	3	597	c.591delC	c.(589-591)TCCfs	p.S197fs		NM_001080528	NP_001073997			hypothetical LOC646498												0				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.00221)|KIRC - Kidney renal clear cell carcinoma(197;0.00247)		TTAATGCTCTGGACCAGTTTA	0.562													-	49215093	G	-	49215093	7	5	107	1	0	1	0	1	0	0	0	0	8884	1335	47	0	26	0	LOC646498	3	49215093	Frame_Shift_Del	DEL	G	TCGA-BR-8686-01A-11D-2394-08	29919924	49215093	148807337	29	73598											
ACAD9	28976	broad.mit.edu	37	chr3	128598625	128598625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgaaccggcggctactgCgcaccagcccgcctgtacga	12	18	0	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr3:128598625C>T	uc003ela.3	+	1	293	c.91C>T	c.(91-93)CGC>TGC	p.R31C	ACAD9_uc010hsw.1_5'UTR|ACAD9_uc011bks.1_5'UTR|ACAD9_uc003elb.2_5'UTR	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	acyl-Coenzyme A dehydrogenase family, member 9	31						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			ovary(2)|central_nervous_system(1)	3						GCGGCTACTGCGCACCAGCCC	0.652													T	128598625	C	T	128598625	3	4	107	1	0	0	0	0	1	0	0	0	111	768	27	1	93	1	ACAD9	3	128598625	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	79383532	128598625	69423805	30	73599											
PCCB	5096	broad.mit.edu	37	chr3	136035904	136035904	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaccaacctaaggtggcctCaggtaggatggagctcttat	11	10	2	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr3:136035904C>T	uc003eqy.1	+	10	1139	c.1088C>T	c.(1087-1089)TCA>TTA	p.S363L	PCCB_uc003eqz.1_Missense_Mutation_p.S363L|PCCB_uc011bmc.1_Missense_Mutation_p.S383L|PCCB_uc011bmd.1_Missense_Mutation_p.S280L	NM_000532	NP_000523	P05166	PCCB_HUMAN	propionyl Coenzyme A carboxylase, beta	363	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity				0					Biotin(DB00121)|L-Valine(DB00161)	AAGGTGGCCTCAGGTAGGATG	0.468													T	136035904	C	T	136035904	3	4	107	1	0	0	0	0	1	0	0	0	11505	838	29	4	1190	4	PCCB	3	136035904	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	7437279	136035904	61986526	31	73600											
ATR	545	broad.mit.edu	37	chr3	142275392	142275392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaacagagtcagaagaaaCacacatcgtgattgtgcctg	11	8	1	4			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr3:142275392C>T	uc003eux.3	-	9	2033	c.1911G>A	c.(1909-1911)GTG>GTA	p.V637V		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	637					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						TCAGAAGAAACACACATCGTG	0.343								Other_conserved_DNA_damage_response_genes					T	142275392	C	T	142275392	2	4	107	1	0	0	0	0	0	0	0	1	1204	465	17	4		4	ATR	3	142275392	Silent	SNP	C	TCGA-BR-8686-01A-11D-2394-08	6239488	142275392	55747038	32	73601											
PIK3CA	5290	broad.mit.edu	37	chr3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attttttgatgaaacaagacGactttgtgaccttcggcttt	8	7	0	4	rs121913287		TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr3:178916876G>A	uc003fjk.2	+	2	420	c.263G>A	c.(262-264)CGA>CAA	p.R88Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	88	PI3K-ABD.		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R88Q(26)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAACAAGACGACTTTGTGAC	0.363	R88Q(SKUT1_SOFT_TISSUE)|R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916876	G	A	178916876	3	1	107	1	0	0	0	0	1	0	0	0	11913	1058	37	1	265	1	PIK3CA	3	178916876	Missense_Mutation	SNP	G	TCGA-BR-8686-01A-11D-2394-08	36641484	178916876	19105554	33	73602											
PCDH7	5099	broad.mit.edu	37	chr4	30724035	30724035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacccccatcctgcaactgCgcgcagccgacttggacgtg	12	16	0	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr4:30724035C>T	uc003gsk.1	+	1	1999	c.991C>T	c.(991-993)CGC>TGC	p.R331C	PCDH7_uc011bxw.1_Missense_Mutation_p.R284C|PCDH7_uc011bxx.1_Missense_Mutation_p.R331C	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	331	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						CCTGCAACTGCGCGCAGCCGA	0.662													T	30724035	C	T	30724035	3	4	107	1	0	0	0	0	1	0	0	0	11516	768	27	1	993	1	PCDH7	4	30724035	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08		30724035	160430241	34	73603											
FAT4	79633	broad.mit.edu	37	chr4	126411905	126411905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaacactacaagcagttccGcagccacacaccaaaatttt	4	14	1	0	rs147961375		TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr4:126411905G>A	uc003ifj.3	+	17	13928	c.13928G>A	c.(13927-13929)CGC>CAC	p.R4643H	FAT4_uc011cgp.1_Missense_Mutation_p.R2884H|FAT4_uc003ifi.1_Missense_Mutation_p.R2120H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4643	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AAGCAGTTCCGCAGCCACACA	0.517													A	126411905	G	A	126411905	3	1	107	1	0	0	0	0	1	0	0	0	5692	1087	38	1	13994	1	FAT4	4	126411905	Missense_Mutation	SNP	G	TCGA-BR-8686-01A-11D-2394-08	95687870	126411905	64742371	35	73604											
POU4F2	5458	broad.mit.edu	37	chr4	147561227	147561227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccatctcgcacccttccgCgttggcgggcacgcaccacc	10	20	1	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr4:147561227C>T	uc003ikv.2	+	2	745	c.497C>T	c.(496-498)GCG>GTG	p.A166V		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	166					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)	1	all_hematologic(180;0.151)					CACCCTTCCGCGTTGGCGGGC	0.537													T	147561227	C	T	147561227	3	4	107	1	0	0	0	0	1	0	0	0	12279	768	27	1	503	1	POU4F2	4	147561227	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	21149322	147561227	43593049	36	73605											
CTNND2	1501	broad.mit.edu	37	chr5	11111072	11111072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagcccgtccagctcgtcCgtgcccatgtgctgtccctg	11	16	0	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr5:11111072C>T	uc003jfa.1	-	14	2506	c.2361G>A	c.(2359-2361)ACG>ACA	p.T787T	CTNND2_uc010itt.2_Silent_p.T696T|CTNND2_uc011cmy.1_Silent_p.T450T|CTNND2_uc011cmz.1_Silent_p.T354T|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.T354T	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	787					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						CCAGCTCGTCCGTGCCCATGT	0.547													T	11111072	C	T	11111072	2	4	107	1	0	0	0	0	0	0	0	1	4020	639	23	1		1	CTNND2	5	11111072	Silent	SNP	C	TCGA-BR-8686-01A-11D-2394-08		11111072	169804188	37	73606											
SEMA6A	57556	broad.mit.edu	37	chr5	115831175	115831175	+	Frame_Shift_Del	DEL	C	C	-													aacaatgcatcatcgtttttCtttagaagaactttaataaa							TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr5:115831175delC	uc010jck.2	-	6	1087	c.378delG	c.(376-378)AAGfs	p.K126fs	SEMA6A_uc003krx.3_Frame_Shift_Del_p.K126fs	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	126	Sema.|Extracellular (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CATCGTTTTTCTTTAGAAGAA	0.368													-	115831175	C	-	115831175	7	5	107	1	0	1	0	1	0	0	0	0	14039	912	32	0	2770	0	SEMA6A	5	115831175	Frame_Shift_Del	DEL	C	TCGA-BR-8686-01A-11D-2394-08	104720103	115831175	65084085	38	73607											
DMXL1	1657	broad.mit.edu	37	chr5	118470009	118470009	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctttgtagccagtgatggAcaatatctgagattatatga	10	5	1	3			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr5:118470009A>G	uc003ksd.2	+	13	2482	c.2301A>G	c.(2299-2301)GGA>GGG	p.G767G	DMXL1_uc010jcl.1_Silent_p.G767G	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	767										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CCAGTGATGGACAATATCTGA	0.333													G	118470009	A	G	118470009	2	3	107	1	0	0	0	0	0	0	0	1	4594	262	10	3		3	DMXL1	5	118470009	Silent	SNP	A	TCGA-BR-8686-01A-11D-2394-08	2638834	118470009	62445251	39	73608											
PCDHB9	56127	broad.mit.edu	37	chr5	140569054	140569054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggagcagggcggcctcGgtgggtcgctgctcggtgcc	20	11	0	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr5:140569054G>A	uc003liw.1	+	3	2163	c.2163G>A	c.(2161-2163)TCG>TCA	p.S721S	PCDHB10_uc003lix.2_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	721	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCGGCCTCGGTGGGTCGCT	0.662													A	140569054	G	A	140569054	2	1	107	1	0	0	0	0	0	0	0	1	11549	1116	39	1		1	PCDHB9	5	140569054	Silent	SNP	G	TCGA-BR-8686-01A-11D-2394-08	22099045	140569054	40346206	40	73609											
TRIM41	90933	broad.mit.edu	37	chr5	180661295	180661295	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcccaagcgcttctcggcCgactgctgcgtactgggggc	13	15	1	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr5:180661295C>T	uc003mne.1	+	6	2107	c.1413C>T	c.(1411-1413)GCC>GCT	p.A471A	TRIM41_uc003mnc.1_3'UTR|TRIM41_uc003mnd.1_Silent_p.A471A|TRIM41_uc003mnf.1_RNA|TRIM41_uc003mng.1_Silent_p.A51A	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	tripartite motif-containing 41 isoform 1	471	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding				0	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTTCTCGGCCGACTGCTGCG	0.741													T	180661295	C	T	180661295	2	4	107	1	0	0	0	0	0	0	0	1	16513	639	23	1		1	TRIM41	5	180661295	Silent	SNP	C	TCGA-BR-8686-01A-11D-2394-08	40092241	180661295	253965	41	73610											
NOTCH4	4855	broad.mit.edu	37	chr6	32163554	32163554	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcaatgagaataggccccgCccccccgcgcagccaagtct	11	17	1	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr6:32163554C>G	uc003obb.2	-	30	5811	c.5672G>C	c.(5671-5673)GGC>GCC	p.G1891A	GPSM3_uc003oax.3_5'Flank|GPSM3_uc003oay.3_5'Flank|GPSM3_uc003oaz.2_5'Flank|NOTCH4_uc011dpt.1_3'UTR|NOTCH4_uc003oba.2_Missense_Mutation_p.G551A|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1891	Cytoplasmic (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						ATAGGCCCCGCCCCCCCGCGC	0.711													G	32163554	C	G	32163554	3	3	107	1	0	0	0	0	1	0	0	0	10551	739	26	5	343	5	NOTCH4	6	32163554	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08		32163554	138951513	42	73611											
TULP1	7287	broad.mit.edu	37	chr6	35477060	35477060	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agctgcctcctcctcctcttCttcctccttcctcgcgcctt	4	21	2	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr6:35477060C>T	uc003okv.3	-	8	760	c.748G>A	c.(748-750)GAA>AAA	p.E250K	TULP1_uc003okw.3_Missense_Mutation_p.E197K	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	250	Poly-Glu.				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			ovary(2)|central_nervous_system(1)	3						TCCTCCTCTTCTTCCTCCTTC	0.498													T	35477060	C	T	35477060	3	4	107	1	0	0	0	0	1	0	0	0	16770	922	32	4	912	4	TULP1	6	35477060	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	3313506	35477060	135638007	43	73612											
KIF6	221458	broad.mit.edu	37	chr6	39507959	39507959	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagtggagagcctcctgagCtttcttcttttcttttttta	7	9	3	2			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr6:39507959C>A	uc003oot.2	-	13	1560	c.1465G>T	c.(1465-1467)GCT>TCT	p.A489S	KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Missense_Mutation_p.A280S|KIF6_uc011dua.1_Missense_Mutation_p.A489S|KIF6_uc010jxb.1_Intron	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	489	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						GCCTCCTGAGCTTTCTTCTTT	0.423													A	39507959	C	A	39507959	3	1	107	1	0	0	0	0	1	0	0	0	8308	797	28	5	1023	5	KIF6	6	39507959	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	4030899	39507959	131607108	44	73613											
GPR63	81491	broad.mit.edu	37	chr6	97246870	97246870	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaagaaagaaatgagagaAatcaaaatcacataagcctg	8	5	2	5			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr6:97246870A>G	uc010kcl.2	-	3	1216	c.738T>C	c.(736-738)ATT>ATC	p.I246I	GPR63_uc003pou.2_Silent_p.I246I	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	246	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AAATGAGAGAAATCAAAATCA	0.478													G	97246870	A	G	97246870	2	3	107	1	0	0	0	0	0	0	0	1	6704	10	1	3		3	GPR63	6	97246870	Silent	SNP	A	TCGA-BR-8686-01A-11D-2394-08	57738911	97246870	73868197	45	73614											
HIVEP2	3097	broad.mit.edu	37	chr6	143074616	143074616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacaagtctgtatattttcCtcctgttcccgctctgttgc	7	12	2	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr6:143074616C>T	uc003qjd.2	-	10	7712	c.6969G>A	c.(6967-6969)GAG>GAA	p.E2323E		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	2323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTATATTTTCCTCCTGTTCCC	0.562													T	143074616	C	T	143074616	2	4	107	1	0	0	0	0	0	0	0	1	7187	680	24	4		4	HIVEP2	6	143074616	Silent	SNP	C	TCGA-BR-8686-01A-11D-2394-08	45827746	143074616	28040451	46	73615											
PLEKHG1	57480	broad.mit.edu	37	chr6	151130381	151130381	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacaagctgctgctcatcacGaagaagagagatgacacgtt	11	9	2	4	rs148074221		TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr6:151130381G>A	uc003qny.1	+	9	1365	c.1053G>A	c.(1051-1053)ACG>ACA	p.T351T	PLEKHG1_uc011eel.1_Silent_p.T391T|PLEKHG1_uc011eem.1_Silent_p.T410T|PLEKHG1_uc003qnz.2_Silent_p.T351T	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	351	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TGCTCATCACGAAGAAGAGAG	0.557													A	151130381	G	A	151130381	2	1	107	1	0	0	0	0	0	0	0	1	12068	1045	37	1		1	PLEKHG1	6	151130381	Silent	SNP	G	TCGA-BR-8686-01A-11D-2394-08	8055765	151130381	19984686	47	73616											
ANKIB1	54467	broad.mit.edu	37	chr7	92027051	92027051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacagatattccagaaggcGgcagcagcagccgcaggcct	12	12	0	2			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr7:92027051G>A	uc003ulw.2	+	19	2786	c.2410G>A	c.(2410-2412)GGC>AGC	p.G804S	ANKIB1_uc010lew.1_Missense_Mutation_p.G73S	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	804							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCCAGAAGGCGGCAGCAGCAG	0.468													A	92027051	G	A	92027051	3	1	107	1	0	0	0	0	1	0	0	0	630	1116	39	1	2480	1	ANKIB1	7	92027051	Missense_Mutation	SNP	G	TCGA-BR-8686-01A-11D-2394-08		92027051	67111612	48	73617											
GNG11	2791	broad.mit.edu	37	chr7	93555472	93555472	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaggatcctctagtaaagGgaattccagaagacaagaac	11	7	1	4			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr7:93555472G>T	uc003und.2	+	2	600	c.166G>T	c.(166-168)GGA>TGA	p.G56*		NM_004126	NP_004117	P61952	GBG11_HUMAN	guanine nucleotide binding protein gamma 11	56					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			kidney(1)	1	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TCTAGTAAAGGGAATTCCAGA	0.338													T	93555472	G	T	93555472	4	4	107	1	0	0	0	0	0	1	0	0	6524	1233	43	5	172	5	GNG11	7	93555472	Nonsense_Mutation	SNP	G	TCGA-BR-8686-01A-11D-2394-08	1528421	93555472	65583191	49	73618											
AGFG2	3268	broad.mit.edu	37	chr7	100159886	100159886	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccacaactgcccagggagCagccaggggactccatttgg	12	13	0	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr7:100159886C>A	uc003uvf.2	+	7	1018	c.882C>A	c.(880-882)AGC>AGA	p.S294R	AGFG2_uc010lgy.2_Missense_Mutation_p.A156E	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	294					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1						GCCCAGGGAGCAGCCAGGGGA	0.637													A	100159886	C	A	100159886	3	1	107	1	0	0	0	0	1	0	0	0	381	709	25	5	908	5	AGFG2	7	100159886	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	6604414	100159886	58978777	50	73619											
CBLL1	79872	broad.mit.edu	37	chr7	107399357	107399357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttatatgaatcatcctcctCcaggacctcccccacctcaa	3	18	2	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr7:107399357C>T	uc003veq.2	+	6	1540	c.1210C>T	c.(1210-1212)CCA>TCA	p.P404S	CBLL1_uc011kme.1_Missense_Mutation_p.P283S|CBLL1_uc011kmf.1_Missense_Mutation_p.P403S	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Cas-Br-M (murine) ecotropic retroviral	404	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|skin(2)|lung(1)	5						TCATCCTCCTCCAGGACCTCC	0.522													T	107399357	C	T	107399357	3	4	107	1	0	0	0	0	1	0	0	0	2703	855	30	4	1232	4	CBLL1	7	107399357	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	7239471	107399357	51739306	51	73620											
LRRN3	54674	broad.mit.edu	37	chr7	110763825	110763825	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accccaatgcatttttcagaCtccccaagctggaatcactc	5	15	2	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr7:110763825C>A	uc003vft.3	+	4	2043	c.997C>A	c.(997-999)CTC>ATC	p.L333I	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.L333I|LRRN3_uc003vfs.3_Missense_Mutation_p.L333I	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	333	Extracellular (Potential).					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ATTTTTCAGACTCCCCAAGCT	0.438													A	110763825	C	A	110763825	3	1	107	1	0	0	0	0	1	0	0	0	9036	565	20	5	999	5	LRRN3	7	110763825	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	3364468	110763825	48374838	52	73621											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519400	113519400	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taaatttgtccttggtgaatGagacacatctgctgtgattg	10	6	1	3			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr7:113519400G>A	uc010ljy.1	-	4	1778	c.1747C>T	c.(1747-1749)CAT>TAT	p.H583Y		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	583					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						CTTGGTGAATGAGACACATCT	0.488													A	113519400	G	A	113519400	3	1	107	1	0	0	0	0	1	0	0	0	12371	1290	45	4	1625	4	PPP1R3A	7	113519400	Missense_Mutation	SNP	G	TCGA-BR-8686-01A-11D-2394-08	2755575	113519400	45619263	53	73622											
FOXP2	93986	broad.mit.edu	37	chr7	114299684	114299684	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaaatttacagctggtttAcacggacatttgcttacttc	7	8	0	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr7:114299684A>C	uc003vhb.2	+	13	1977	c.1603A>C	c.(1603-1605)ACA>CCA	p.T535P	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.T560P|FOXP2_uc003vha.2_Missense_Mutation_p.T443P|FOXP2_uc011kmu.1_Missense_Mutation_p.T552P|FOXP2_uc011kmv.1_Missense_Mutation_p.T534P|FOXP2_uc010ljz.1_Missense_Mutation_p.T350P|FOXP2_uc003vhe.1_Missense_Mutation_p.T105P	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	535	Fork-head.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						CAGCTGGTTTACACGGACATT	0.343													C	114299684	A	C	114299684	3	2	107	1	0	0	0	0	1	0	0	0	6027	391	14	5	1816	5	FOXP2	7	114299684	Missense_Mutation	SNP	A	TCGA-BR-8686-01A-11D-2394-08	780284	114299684	44838979	54	73623											
OR2A14	135941	broad.mit.edu	37	chr7	143826573	143826573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcctatgatcgctatgCggacatctgccaccccttac	8	14	1	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr7:143826573C>T	uc011kua.1	+	1	368	c.368C>T	c.(367-369)GCG>GTG	p.A123V		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A,	123	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)					GATCGCTATGCGGACATCTGC	0.493													T	143826573	C	T	143826573	3	4	107	1	0	0	0	0	1	0	0	0	10976	768	27	1	370	1	OR2A14	7	143826573	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	29526889	143826573	15312090	55	73624											
OR2A1	346528	broad.mit.edu	37	chr7	144015510	144015510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctttgctggctgcatgaCgcagacctttctctgtttga	9	12	1	3			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr7:144015510C>T	uc011kud.1	+	1	275	c.275C>T	c.(274-276)ACG>ATG	p.T92M	OR2A9P_uc003wec.1_Intron	NM_001001802	NP_001001802	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A,	98	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.14)					GGCTGCATGACGCAGACCTTT	0.577													T	144015510	C	T	144015510	3	4	107	1	0	0	0	0	1	0	0	0	10974	536	19	1	295	1	OR2A1	7	144015510	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	188937	144015510	15123153	56	73625											
FAM135B	51059	broad.mit.edu	37	chr8	139164616	139164616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaactccagagccctgcttCgggcctctgaccaggcgacg	12	16	1	2			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr8:139164616C>T	uc003yuy.2	-	13	2273	c.2102G>A	c.(2101-2103)CGA>CAA	p.R701Q	FAM135B_uc003yux.2_Missense_Mutation_p.R602Q|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.R263Q|FAM135B_uc003yvb.2_Missense_Mutation_p.R263Q	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	701										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGCCCTGCTTCGGGCCTCTGA	0.552										HNSCC(54;0.14)			T	139164616	C	T	139164616	3	4	107	1	0	0	0	0	1	0	0	0	5449	884	31	1	2150	1	FAM135B	8	139164616	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08		139164616	7199406	57	73626											
TSNARE1	203062	broad.mit.edu	37	chr8	143425589	143425589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgcggctccacacgcgGtacctgcgagtgggctcggc	16	13	0	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr8:143425589G>A	uc003ywk.2	-	4	601	c.483C>T	c.(481-483)TAC>TAT	p.Y161Y	TSNARE1_uc011lju.1_Silent_p.Y161Y|TSNARE1_uc003ywj.2_Silent_p.Y161Y|TSNARE1_uc003ywl.3_Intron	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	161					vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCCACACGCGGTACCTGCGAG	0.662													A	143425589	G	A	143425589	2	1	107	1	0	0	0	0	0	0	0	1	16627	1256	44	4		4	TSNARE1	8	143425589	Silent	SNP	G	TCGA-BR-8686-01A-11D-2394-08	4260973	143425589	2938433	58	73627											
DBC1	1620	broad.mit.edu	37	chr9	122011382	122011382	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cactggatggcggaccagatCtctcctctcgatggctgtgt	12	12	2	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr9:122011382C>T	uc004bkc.2	-	3	721	c.265G>A	c.(265-267)GAT>AAT	p.D89N	DBC1_uc004bkd.2_Missense_Mutation_p.D89N	NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	89	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						CGGACCAGATCTCTCCTCTCG	0.542													T	122011382	C	T	122011382	3	4	107	1	0	0	0	0	1	0	0	0	4247	913	32	4	2044	4	DBC1	9	122011382	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08		122011382	19202049	59	73628											
ASB13	79754	broad.mit.edu	37	chr10	5693205	5693205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctcgtgcaggggggacGctgtgtacaggggagggttg	21	7	0	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr10:5693205G>A	uc001iig.2	-	3	397	c.353C>T	c.(352-354)GCG>GTG	p.A118V	ASB13_uc001iii.2_Intron|ASB13_uc001iih.2_RNA|ASB13_uc009xic.2_Missense_Mutation_p.A118V	NM_024701	NP_078977	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box-containing protein	118	ANK 4.				intracellular signal transduction		protein binding			ovary(1)	1				GBM - Glioblastoma multiforme(2;9.59e-09)		CAGGGGGGACGCTGTGTACAG	0.642													A	5693205	G	A	5693205	3	1	107	1	0	0	0	0	1	0	0	0	1017	1087	38	1	499	1	ASB13	10	5693205	Missense_Mutation	SNP	G	TCGA-BR-8686-01A-11D-2394-08		5693205	129841542	60	73629											
FBXO18	84893	broad.mit.edu	37	chr10	5956183	5956183	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catgaacaacagctgattctGaatcacaagatggaacctct	7	10	3	4			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr10:5956183G>A	uc001iis.2	+	8	1442	c.1347G>A	c.(1345-1347)CTG>CTA	p.L449L	FBXO18_uc001iir.2_Silent_p.L375L|FBXO18_uc009xig.2_Silent_p.L375L|FBXO18_uc001iit.2_Silent_p.L500L	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	449					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						AGCTGATTCTGAATCACAAGA	0.433													A	5956183	G	A	5956183	2	1	107	1	0	0	0	0	0	0	0	1	5731	1277	45	4		4	FBXO18	10	5956183	Silent	SNP	G	TCGA-BR-8686-01A-11D-2394-08	262978	5956183	129578564	61	73630											
ANKRD30A	91074	broad.mit.edu	37	chr10	37490214	37490214	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgtacccaaggctacaCatcaaaaagaaatggataaa	8	7	1	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr10:37490214C>A	uc001iza.1	+	31	2761	c.2662C>A	c.(2662-2664)CAT>AAT	p.H888N		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	944						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						CAAGGCTACACATCAAAAAGA	0.308													A	37490214	C	A	37490214	3	1	107	1	0	0	0	0	1	0	0	0	658	478	17	5	2784	5	ANKRD30A	10	37490214	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	31534031	37490214	98044533	62	73631											
ZNF33A	7581	broad.mit.edu	37	chr10	38344156	38344156	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaaaagctttctgggaTaagtcaaacctcactaaaca	7	8	3	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr10:38344156T>G	uc001izh.2	+	5	1279	c.1101T>G	c.(1099-1101)GAT>GAG	p.D367E	ZNF33A_uc001izg.2_Missense_Mutation_p.D368E|ZNF33A_uc010qev.1_Missense_Mutation_p.D374E|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	367	C2H2-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						CTTTCTGGGATAAGTCAAACC	0.433													G	38344156	T	G	38344156	3	3	107	1	0	0	0	0	1	0	0	0	17851	1403	49	5	1118	5	ZNF33A	10	38344156	Missense_Mutation	SNP	T	TCGA-BR-8686-01A-11D-2394-08	853942	38344156	97190591	63	73632			1	33		2	2	25	N	T_A	9.612962e-05
ZNF33A	7581	broad.mit.edu	37	chr10	38344180	38344180	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaacctcactaaacatcaAagatcacacacaggggagaa	6	11	4	2			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr10:38344180A>G	uc001izh.2	+	5	1303	c.1125A>G	c.(1123-1125)CAA>CAG	p.Q375Q	ZNF33A_uc001izg.2_Silent_p.Q376Q|ZNF33A_uc010qev.1_Silent_p.Q382Q|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	375	C2H2-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						CTAAACATCAAAGATCACACA	0.433													G	38344180	A	G	38344180	2	3	107	1	0	0	0	0	0	0	0	1	17851	11	1	3		3	ZNF33A	10	38344180	Silent	SNP	A	TCGA-BR-8686-01A-11D-2394-08	24	38344180	97190567	64	73633			1	33		2	2	25	N	T_A	9.612962e-05
KNDC1	85442	broad.mit.edu	37	chr10	135013926	135013926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagggcagccaaagcccccGctccccgtccagcaagaggc	12	18	0	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr10:135013926G>A	uc001llz.1	+	16	2952	c.2951G>A	c.(2950-2952)CGC>CAC	p.R984H	KNDC1_uc001lma.1_Missense_Mutation_p.R919H|KNDC1_uc001lmb.1_Missense_Mutation_p.R396H	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	984					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAAAGCCCCCGCTCCCCGTCC	0.706													A	135013926	G	A	135013926	3	1	107	1	0	0	0	0	1	0	0	0	8426	1087	38	1	3013	1	KNDC1	10	135013926	Missense_Mutation	SNP	G	TCGA-BR-8686-01A-11D-2394-08	96669746	135013926	520821	65	73634											
OR51B5	282763	broad.mit.edu	37	chr11	5364235	5364235	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgaaggcagaatgcatGtgaaagaacatgggagtgac	15	5	0	5			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr11:5364235G>T	uc001map.1	-	1	520	c.520C>A	c.(520-522)CAT>AAT	p.H174N	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Missense_Mutation_p.H174N	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	174	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAATGCATGTGAAAGAACA	0.463													T	5364235	G	T	5364235	3	4	107	1	0	0	0	0	1	0	0	0	11091	1377	48	5	422	5	OR51B5	11	5364235	Missense_Mutation	SNP	G	TCGA-BR-8686-01A-11D-2394-08		5364235	129642281	66	73635											
SBF2	81846	broad.mit.edu	37	chr11	9801995	9801995	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagatacaactctggatcttGtccatccattgctgggcact	9	11	2	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr11:9801995G>T	uc001mib.2	-	40	5658	c.5520C>A	c.(5518-5520)GAC>GAA	p.D1840E	uc001mhz.1_Intron|SBF2_uc001mid.2_Missense_Mutation_p.D484E|SBF2_uc001mic.2_Missense_Mutation_p.D130E|uc001mie.3_RNA	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1840	PH.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TCTGGATCTTGTCCATCCATT	0.473													T	9801995	G	T	9801995	3	4	107	1	0	0	0	0	1	0	0	0	13859	1368	48	5	33	5	SBF2	11	9801995	Missense_Mutation	SNP	G	TCGA-BR-8686-01A-11D-2394-08	4437760	9801995	125204521	67	73636											
PTPN5	84867	broad.mit.edu	37	chr11	18754846	18754846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctcctgccacaccatgCgccagaagtcggcgaccgtg	12	15	0	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr11:18754846C>T	uc001mpd.2	-	11	1585	c.1154G>A	c.(1153-1155)CGC>CAC	p.R385H	PTPN5_uc001mpb.2_Missense_Mutation_p.R353H|PTPN5_uc001mpc.2_Missense_Mutation_p.R385H|PTPN5_uc001mpe.2_Missense_Mutation_p.R353H|PTPN5_uc010rdj.1_Missense_Mutation_p.R329H|PTPN5_uc001mpf.2_Missense_Mutation_p.R361H|PTPN5_uc010rdk.1_Missense_Mutation_p.R330H	NM_006906	NP_008837	P54829	PTN5_HUMAN	protein-tyrosine-phosphatase non-receptor 5	385	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(2)	2						CCACACCATGCGCCAGAAGTC	0.597													T	18754846	C	T	18754846	3	4	107	1	0	0	0	0	1	0	0	0	12791	768	27	1	563	1	PTPN5	11	18754846	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	8952851	18754846	116251670	68	73637											
CKAP5	9793	broad.mit.edu	37	chr11	46774874	46774874	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atatacctcaggatgttggtCtggtctgacttctccagaac	9	10	4	2			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr11:46774874C>G	uc001ndi.1	-	37	5153	c.5043G>C	c.(5041-5043)CAG>CAC	p.Q1681H	CKAP5_uc009ylg.1_Missense_Mutation_p.Q1567H|CKAP5_uc001ndj.1_Missense_Mutation_p.Q1621H|CKAP5_uc001ndh.1_Missense_Mutation_p.Q610H	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	1681					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						GGATGTTGGTCTGGTCTGACT	0.468													G	46774874	C	G	46774874	3	3	107	1	0	0	0	0	1	0	0	0	3445	912	32	5	1087	5	CKAP5	11	46774874	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	28020028	46774874	88231642	69	73638											
OR4A16	81327	broad.mit.edu	37	chr11	55111534	55111534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaatcctttaatatactcGttgagacaatcagagatgaa	7	6	1	4	rs77217348		TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr11:55111534G>A	uc010rie.1	+	1	858	c.858G>A	c.(856-858)TCG>TCA	p.S286S		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3						TAATATACTCGTTGAGACAAT	0.303													A	55111534	G	A	55111534	2	1	107	1	0	0	0	0	0	0	0	1	11041	1132	40	1		1	OR4A16	11	55111534	Silent	SNP	G	TCGA-BR-8686-01A-11D-2394-08	8336660	55111534	79894982	70	73639											
OR4C11	219429	broad.mit.edu	37	chr11	55371590	55371590	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgtaggttataattttcTtttcagagagagcatccaca	7	7	2	2			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr11:55371590T>C	uc010rii.1	-	1	260	c.260A>G	c.(259-261)AAG>AGG	p.K87R		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	87	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TATAATTTTCTTTTCAGAGAG	0.398													C	55371590	T	C	55371590	3	2	107	1	0	0	0	0	1	0	0	0	11045	1609	56	3	674	3	OR4C11	11	55371590	Missense_Mutation	SNP	T	TCGA-BR-8686-01A-11D-2394-08	260056	55371590	79634926	71	73640											
OR5R1	219479	broad.mit.edu	37	chr11	56185309	56185309	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gactcttcttgacatcagtgTtgaataatgcaggggactac	10	8	3	2			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr11:56185309T>G	uc010rji.1	-	1	400	c.400A>C	c.(400-402)ACA>CCA	p.T134P		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	134	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GACATCAGTGTTGAATAATGC	0.468													G	56185309	T	G	56185309	3	3	107	1	0	0	0	0	1	0	0	0	11180	1725	60	5	576	5	OR5R1	11	56185309	Missense_Mutation	SNP	T	TCGA-BR-8686-01A-11D-2394-08	813719	56185309	78821207	72	73641											
OR9G4	283189	broad.mit.edu	37	chr11	56510658	56510658	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccaagcaggactttttcGtagaccctggtgtttgtaca	9	10	0	1	rs149148369		TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr11:56510658G>A	uc010rjo.1	-	1	630	c.630C>T	c.(628-630)TAC>TAT	p.Y210Y		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	210	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						GGACTTTTTCGTAGACCCTGG	0.438													A	56510658	G	A	56510658	2	1	107	1	0	0	0	0	0	0	0	1	11251	1140	40	1		1	OR9G4	11	56510658	Silent	SNP	G	TCGA-BR-8686-01A-11D-2394-08	325349	56510658	78495858	73	73642											
ANKRD42	338699	broad.mit.edu	37	chr11	82935914	82935914	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tagttcacttagcagccatgGaaggccaccttcactgtttc	8	12	2	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr11:82935914G>T	uc001ozz.1	+	6	942	c.520G>T	c.(520-522)GAA>TAA	p.E174*	ANKRD42_uc010rsv.1_Nonsense_Mutation_p.E202*|ANKRD42_uc001paa.2_Nonsense_Mutation_p.E202*|ANKRD42_uc001pab.1_Nonsense_Mutation_p.E201*	NM_182603	NP_872409	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	174	ANK 5.									skin(1)	1						AGCAGCCATGGAAGGCCACCT	0.284													T	82935914	G	T	82935914	4	4	107	1	0	0	0	0	0	1	0	0	670	1175	41	5	542	5	ANKRD42	11	82935914	Nonsense_Mutation	SNP	G	TCGA-BR-8686-01A-11D-2394-08	26425256	82935914	52070602	74	73643											
GPR83	10888	broad.mit.edu	37	chr11	94134339	94134339	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcctccgcgctctgctcGtcggcccggccctcgtgggg	15	19	1	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr11:94134339G>A	uc001pet.2	-	1	247	c.75C>T	c.(73-75)GAC>GAT	p.D25D		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83 precursor	25	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			central_nervous_system(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CGCTCTGCTCGTCGGCCCGGC	0.652													A	94134339	G	A	94134339	2	1	107	1	0	0	0	0	0	0	0	1	6713	1136	40	1		1	GPR83	11	94134339	Silent	SNP	G	TCGA-BR-8686-01A-11D-2394-08	11198425	94134339	40872177	75	73644											
DDI1	414301	broad.mit.edu	37	chr11	103907697	103907697	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagatccagatcatccaCatggagcgactcctcatcga	9	12	2	2			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr11:103907697C>T	uc001phr.2	+	1	390	c.147C>T	c.(145-147)CAC>CAT	p.H49H	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	49	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AGATCATCCACATGGAGCGAC	0.562													T	103907697	C	T	103907697	2	4	107	1	0	0	0	0	0	0	0	1	4328	477	17	4		4	DDI1	11	103907697	Silent	SNP	C	TCGA-BR-8686-01A-11D-2394-08	9773358	103907697	31098819	76	73645											
NFRKB	4798	broad.mit.edu	37	chr11	129758493	129758493	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atactgagctacaaacctcgGaaaagcttctgggcaatgtg	10	9	1	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr11:129758493G>T	uc001qfi.2	-	4	534	c.333C>A	c.(331-333)TTC>TTA	p.F111L	NFRKB_uc001qfg.2_Missense_Mutation_p.F124L|NFRKB_uc001qfh.2_Missense_Mutation_p.F134L|NFRKB_uc010sbw.1_Missense_Mutation_p.F111L	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	111					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		ACAAACCTCGGAAAAGCTTCT	0.463													T	129758493	G	T	129758493	3	4	107	1	0	0	0	0	1	0	0	0	10384	1165	41	5	3698	5	NFRKB	11	129758493	Missense_Mutation	SNP	G	TCGA-BR-8686-01A-11D-2394-08	25850796	129758493	5248023	77	73646											
TM7SF3	51768	broad.mit.edu	37	chr12	27135767	27135767	+	Frame_Shift_Del	DEL	G	G	-													ccaagcagggcaaaaagagtGaagaacactttggaagacac							TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr12:27135767delG	uc010sjl.1	-	7	1132	c.894delC	c.(892-894)TTCfs	p.F298fs		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3 precursor	298	Phe-rich.|Helical; (Potential).					integral to membrane|plasma membrane				upper_aerodigestive_tract(2)	2	Colorectal(261;0.0847)					CAAAAAGAGTGAAGAACACTT	0.318													-	27135767	G	-	27135767	7	5	107	1	0	1	0	1	0	0	0	0	15972	1281	45	0	842	0	TM7SF3	12	27135767	Frame_Shift_Del	DEL	G	TCGA-BR-8686-01A-11D-2394-08		27135767	106716128	78	73647											
WNT10B	7480	broad.mit.edu	37	chr12	49364277	49364277	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaggagacccgcgaggccCgagggcggaggccgcggccg	19	14	0	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr12:49364277C>T	uc001rss.2	-	2	382	c.36G>A	c.(34-36)TCG>TCA	p.S12S	WNT10B_uc001rst.2_Silent_p.S12S	NM_003394	NP_003385	O00744	WN10B_HUMAN	wingless-type MMTV integration site family,	12					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			skin(4)|lung(3)	7						CCGCGAGGCCCGAGGGCGGAG	0.682													T	49364277	C	T	49364277	2	4	107	1	0	0	0	0	0	0	0	1	17380	639	23	1		1	WNT10B	12	49364277	Silent	SNP	C	TCGA-BR-8686-01A-11D-2394-08	22228510	49364277	84487618	79	73648											
TPH2	121278	broad.mit.edu	37	chr12	72366481	72366481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctcaactcgaagatgtctCcatgtttctgaaaggtaaga	9	9	3	3			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr12:72366481C>T	uc009zrw.1	+	6	932	c.791C>T	c.(790-792)TCC>TTC	p.S264F	TPH2_uc001swy.2_Missense_Mutation_p.S174F	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	264					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			ovary(2)|central_nervous_system(1)|skin(1)	4					L-Tryptophan(DB00150)	GAAGATGTCTCCATGTTTCTG	0.438													T	72366481	C	T	72366481	3	4	107	1	0	0	0	0	1	0	0	0	16399	855	30	4	813	4	TPH2	12	72366481	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	23002204	72366481	61485414	80	73649											
CIT	11113	broad.mit.edu	37	chr12	120150501	120150501	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaccggcctctgtccagCttggtgcaaagaggaagggc	13	12	1	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr12:120150501C>T	uc001txi.1	-	35	4507	c.4454_splice	c.e35-1	p.A1485_splice	CIT_uc001txh.1_Splice_Site_p.A1004_splice|CIT_uc001txj.1_Splice_Site_p.A1527_splice	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron						intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCTGTCCAGCTTGGTGCaaa	0.294													T	120150501	C	T	120150501	5	4	107	1	0	0	0	0	0	0	1	0	3438	811	28	2	1682	2	CIT	12	120150501	Splice_Site	SNP	C	TCGA-BR-8686-01A-11D-2394-08	47784020	120150501	13701394	81	73650											
TMEM132D	121256	broad.mit.edu	37	chr12	129822189	129822189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgcttaccatagccagcGgcacaactccaatcaagtcc	7	15	1	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr12:129822189G>A	uc009zyl.1	-	4	1617	c.1289C>T	c.(1288-1290)CCG>CTG	p.P430L		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	430	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CATAGCCAGCGGCACAACTCC	0.612													A	129822189	G	A	129822189	3	1	107	1	0	0	0	0	1	0	0	0	16044	1116	39	1	2034	1	TMEM132D	12	129822189	Missense_Mutation	SNP	G	TCGA-BR-8686-01A-11D-2394-08	9671688	129822189	4029706	82	73651											
FREM2	341640	broad.mit.edu	37	chr13	39262163	39262163	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtccggcttgggcgcgctgCctcgctatggagaactcctc	13	14	0	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr13:39262163C>A	uc001uwv.2	+	1	991	c.682C>A	c.(682-684)CCT>ACT	p.P228T		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	228	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGGCGCGCTGCCTCGCTATGG	0.667													A	39262163	C	A	39262163	3	1	107	1	0	0	0	0	1	0	0	0	6045	739	26	5	684	5	FREM2	13	39262163	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08		39262163	75907715	83	73652											
DCAF4	26094	broad.mit.edu	37	chr14	73425480	73425480	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccggggctgctcatggctgtCgggcaggacctttactgtta	14	11	1	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr14:73425480C>T	uc001xng.2	+	14	1675	c.1455C>T	c.(1453-1455)GTC>GTT	p.V485V	DCAF4_uc001xnj.2_Silent_p.V479V|DCAF4_uc010ttr.1_Silent_p.V464V|DCAF4_uc001xnh.2_Silent_p.V385V|DCAF4_uc010tts.1_Silent_p.V425V|DCAF4_uc010ttt.1_Silent_p.V271V|DCAF4_uc001xni.2_Silent_p.V315V	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4 isoform 1	485						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)|skin(1)	3						TCATGGCTGTCGGGCAGGACC	0.607													T	73425480	C	T	73425480	2	4	107	1	0	0	0	0	0	0	0	1	4270	871	31	1		1	DCAF4	14	73425480	Silent	SNP	C	TCGA-BR-8686-01A-11D-2394-08		73425480	33924060	84	73653											
ABCD4	5826	broad.mit.edu	37	chr14	74757026	74757026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagaggccacccagaaccCggagcaaggaggtcttgcca	12	14	1	2			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr14:74757026C>T	uc001xpr.2	-	12	1447	c.1295G>A	c.(1294-1296)CGG>CAG	p.R432Q	ABCD4_uc001xps.2_Missense_Mutation_p.R273Q|ABCD4_uc001xpt.2_Missense_Mutation_p.R273Q|ABCD4_uc010tur.1_Missense_Mutation_p.R328Q|ABCD4_uc001xpu.2_Missense_Mutation_p.R169Q	NM_005050	NP_005041	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D, member 4	432	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00153)		ACCCAGAACCCGGAGCAAGGA	0.632											OREG0022800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	74757026	C	T	74757026	3	4	107	1	0	0	0	0	1	0	0	0	63	652	23	1	557	1	ABCD4	14	74757026	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	1331546	74757026	32592514	85	73654											
NEK9	91754	broad.mit.edu	37	chr14	75573236	75573236	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccccaagaatagacttcCttgtttcgtgtcagaaccac	7	13	1	3			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr14:75573236C>T	uc001xrl.2	-	12	1651	c.1497G>A	c.(1495-1497)AAG>AAA	p.K499K	NEK9_uc001xrk.2_5'UTR	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	499	RCC1 3.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(2)|stomach(2)|ovary(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00718)		AATAGACTTCCTTGTTTCGTG	0.478													T	75573236	C	T	75573236	2	4	107	1	0	0	0	0	0	0	0	1	10331	680	24	4		4	NEK9	14	75573236	Silent	SNP	C	TCGA-BR-8686-01A-11D-2394-08	816210	75573236	31776304	86	73655											
KIAA1409	57578	broad.mit.edu	37	chr14	94088869	94088869	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgagatgtcgctggatgatCaccctgacccgggcactgag	13	13	1	4			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr14:94088869C>T	uc001ybv.1	+	28	4908	c.4825C>T	c.(4825-4827)CAC>TAC	p.H1609Y	KIAA1409_uc001ybs.1_Missense_Mutation_p.H1587Y	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1764						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		GCTGGATGATCACCCTGACCC	0.582													T	94088869	C	T	94088869	3	4	107	1	0	0	0	0	1	0	0	0	8230	826	29	4	4865	4	KIAA1409	14	94088869	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	18515633	94088869	13260671	87	73656											
TJP1	7082	broad.mit.edu	37	chr15	30011254	30011254	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagattaggctctttgtctGgcctgtgccctgggtgacta	12	10	3	2			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr15:30011254G>T	uc001zcr.2	-	21	3567	c.3092C>A	c.(3091-3093)CCA>CAA	p.P1031Q	TJP1_uc010azl.2_Missense_Mutation_p.P1019Q|TJP1_uc001zcq.2_Missense_Mutation_p.P955Q|TJP1_uc001zcs.2_Missense_Mutation_p.P951Q	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1031					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTCTTTGTCTGGCCTGTGCCC	0.483													T	30011254	G	T	30011254	3	4	107	1	0	0	0	0	1	0	0	0	15926	1348	47	5	2186	5	TJP1	15	30011254	Missense_Mutation	SNP	G	TCGA-BR-8686-01A-11D-2394-08		30011254	72520138	88	73657											
DUOX1	53905	broad.mit.edu	37	chr15	45433197	45433197	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccctggacctctgttcagCaccatcgtccttgaacaatt	7	14	2	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr15:45433197C>T	uc001zus.1	+	14	1840	c.1494C>T	c.(1492-1494)AGC>AGT	p.S498S	DUOX1_uc001zut.1_Silent_p.S498S|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	498	Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTCTGTTCAGCACCATCGTCC	0.607													T	45433197	C	T	45433197	2	4	107	1	0	0	0	0	0	0	0	1	4800	709	25	2		2	DUOX1	15	45433197	Silent	SNP	C	TCGA-BR-8686-01A-11D-2394-08	15421943	45433197	57098195	89	73658											
SALL1	6299	broad.mit.edu	37	chr16	51173642	51173642	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatgctgccctcaggacagtCttccatgttttcatcagaga	9	11	4	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr16:51173642C>T	uc010vgs.1	-	2	2522	c.2491G>A	c.(2491-2493)GAC>AAC	p.D831N	SALL1_uc010vgr.1_Missense_Mutation_p.D734N|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	831					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCAGGACAGTCTTCCATGTTT	0.502													T	51173642	C	T	51173642	3	4	107	1	0	0	0	0	1	0	0	0	13810	913	32	4	1491	4	SALL1	16	51173642	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08		51173642	39181111	90	73659											
POLR2C	5432	broad.mit.edu	37	chr16	57503205	57503205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagcccccgggtcattccGgtcagtgcgggagagcatcc	13	14	2	1	rs141472105	byFrequency	TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr16:57503205G>A	uc002elt.1	+	5	473	c.387G>A	c.(385-387)CCG>CCA	p.P129P	POLR2C_uc010vhq.1_Silent_p.P129P	NM_032940	NP_116558	P19387	RPB3_HUMAN	DNA directed RNA polymerase II polypeptide C	129					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0						GGGTCATTCCGGTCAGTGCGG	0.562													A	57503205	G	A	57503205	2	1	107	1	0	0	0	0	0	0	0	1	12216	1130	39	1		1	POLR2C	16	57503205	Silent	SNP	G	TCGA-BR-8686-01A-11D-2394-08	6329563	57503205	32851548	91	73660											
ZNF594	84622	broad.mit.edu	37	chr17	5085395	5085395	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgaggaaagccgtgtgCcacatgaagagtttcccaca	11	9	0	3			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr17:5085395C>T	uc010cla.1	-	2	2313	c.2157G>A	c.(2155-2157)TGG>TGA	p.W719*		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	719	C2H2-type 22.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						AAGCCGTGTGCCACATGAAGA	0.463													T	5085395	C	T	5085395	4	4	107	1	0	0	0	0	0	1	0	0	18021	740	26	2	270	2	ZNF594	17	5085395	Nonsense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08		5085395	76109815	92	73661											
MYH8	4626	broad.mit.edu	37	chr17	10300223	10300223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattctggagccgctgcttcGtcttctcaagggaagcacat	10	12	3	0	rs150344258		TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr17:10300223G>A	uc002gmm.2	-	31	4354	c.4259C>T	c.(4258-4260)ACG>ATG	p.T1420M	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1420	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						CCGCTGCTTCGTCTTCTCAAG	0.493									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				A	10300223	G	A	10300223	3	1	107	1	0	0	0	0	1	0	0	0	10041	1145	40	1	1594	1	MYH8	17	10300223	Missense_Mutation	SNP	G	TCGA-BR-8686-01A-11D-2394-08	5214828	10300223	70894987	93	73662											
MYH2	4620	broad.mit.edu	37	chr17	10427134	10427134	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcttcctggagaatgtccTccatctctccttgcatttgg	10	12	1	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr17:10427134T>C	uc010coi.2	-	36	5371	c.5243A>G	c.(5242-5244)GAG>GGG	p.E1748G	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1748G|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1748	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						GAGAATGTCCTCCATCTCTCC	0.428													C	10427134	T	C	10427134	3	2	107	1	0	0	0	0	1	0	0	0	10035	1551	54	3	602	3	MYH2	17	10427134	Missense_Mutation	SNP	T	TCGA-BR-8686-01A-11D-2394-08	126911	10427134	70768076	94	73663											
MYOCD	93649	broad.mit.edu	37	chr17	12656558	12656558	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcccacagcacatcagtttGcccccatcacccaacaaccc	4	20	2	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr17:12656558G>T	uc002gnn.2	+	10	2252	c.1953G>T	c.(1951-1953)TTG>TTT	p.L651F	MYOCD_uc002gno.2_Missense_Mutation_p.L651F|MYOCD_uc002gnp.1_Missense_Mutation_p.L555F|MYOCD_uc002gnq.2_Missense_Mutation_p.L370F	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	651					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACATCAGTTTGCCCCCATCAC	0.582													T	12656558	G	T	12656558	3	4	107	1	0	0	0	0	1	0	0	0	10087	1310	46	5	1991	5	MYOCD	17	12656558	Missense_Mutation	SNP	G	TCGA-BR-8686-01A-11D-2394-08	2229424	12656558	68538652	95	73664											
EPN2	22905	broad.mit.edu	37	chr17	19235245	19235245	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagtctcaacccctgactgtCgcctcaagcaagcccagcag	9	16	2	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr17:19235245C>T	uc002gvd.3	+	10	1939	c.1491C>T	c.(1489-1491)GTC>GTT	p.V497V	EPN2_uc010cql.1_Silent_p.V206V|EPN2_uc002gve.3_Silent_p.V440V|EPN2_uc002gvf.3_Silent_p.V212V|EPN2_uc010vyo.1_Silent_p.V205V|EPN2_uc010vyp.1_Silent_p.V433V|EPN2_uc010vyq.1_Silent_p.V434V|EPN2_uc002gvh.1_Intron|EPN2_uc002gvj.3_Silent_p.V160V	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	497	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CCCTGACTGTCGCCTCAAGCA	0.582													T	19235245	C	T	19235245	2	4	107	1	0	0	0	0	0	0	0	1	5186	871	31	1		1	EPN2	17	19235245	Silent	SNP	C	TCGA-BR-8686-01A-11D-2394-08	6578687	19235245	61959965	96	73665											
ACACA	31	broad.mit.edu	37	chr17	35545362	35545362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagttctgcctggaggacgCgcaatttccacaggcgactt	11	12	2	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr17:35545362C>T	uc002hnm.2	-	39	4711	c.4520G>A	c.(4519-4521)CGC>CAC	p.R1507H	ACACA_uc002hnk.2_Missense_Mutation_p.R1429H|ACACA_uc002hnl.2_Missense_Mutation_p.R1449H|ACACA_uc002hnn.2_Missense_Mutation_p.R1507H|ACACA_uc002hno.2_Missense_Mutation_p.R1544H|ACACA_uc010cuy.2_Missense_Mutation_p.R201H	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1507					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTGGAGGACGCGCAATTTCCA	0.483													T	35545362	C	T	35545362	3	4	107	1	0	0	0	0	1	0	0	0	106	768	27	1	2592	1	ACACA	17	35545362	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	16310117	35545362	45649848	97	73666											
SLC39A11	201266	broad.mit.edu	37	chr17	70943979	70943979	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcaacgtagagccgaagttCagtgccagggtcgtctgggg	15	9	3	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr17:70943979C>T	uc002jjb.2	-	5	457	c.342G>A	c.(340-342)CTG>CTA	p.L114L	SLC39A11_uc002jja.2_Silent_p.L114L|SLC39A11_uc002jjc.1_Silent_p.L114L	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11 isoform 1	114					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						AGCCGAAGTTCAGTGCCAGGG	0.537													T	70943979	C	T	70943979	2	4	107	1	0	0	0	0	0	0	0	1	14614	813	29	4		4	SLC39A11	17	70943979	Silent	SNP	C	TCGA-BR-8686-01A-11D-2394-08	35398617	70943979	10251231	98	73667											
USH1G	124590	broad.mit.edu	37	chr17	72916569	72916569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggctgctctgcttggccGcgatggagtccaggtagcgc	16	11	1	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr17:72916569G>A	uc002jme.1	-	2	545	c.362C>T	c.(361-363)GCG>GTG	p.A121V	USH1G_uc010wro.1_Missense_Mutation_p.A18V	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Usher syndrome 1G protein	121	ANK 3.				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton				skin(2)	2	all_lung(278;0.172)|Lung NSC(278;0.207)					CTGCTTGGCCGCGATGGAGTC	0.637													A	72916569	G	A	72916569	3	1	107	1	0	0	0	0	1	0	0	0	17032	1087	38	1	1031	1	USH1G	17	72916569	Missense_Mutation	SNP	G	TCGA-BR-8686-01A-11D-2394-08	1972590	72916569	8278641	99	73668											
EXOC7	23265	broad.mit.edu	37	chr17	74087260	74087260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttagagcccccctttttccCatctagaccatgctgggaat	8	13	1	2			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr17:74087260C>T	uc002jqs.2	-	7	960	c.865G>A	c.(865-867)GGG>AGG	p.G289R	EXOC7_uc010dgv.1_Missense_Mutation_p.G236R|EXOC7_uc002jqq.2_Missense_Mutation_p.G289R|EXOC7_uc010wsw.1_Missense_Mutation_p.G289R|EXOC7_uc010wsx.1_Intron|EXOC7_uc002jqr.2_Intron|EXOC7_uc010wsv.1_Missense_Mutation_p.G248R	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	289					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			CCCTTTTTCCCATCTAGACCA	0.532													T	74087260	C	T	74087260	3	4	107	1	0	0	0	0	1	0	0	0	5310	594	21	4	1398	4	EXOC7	17	74087260	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	1170691	74087260	7107950	100	73669											
ENPP7	339221	broad.mit.edu	37	chr17	77709072	77709072	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtacggccccgagtccccGgagaggagggagatggtgcg	19	10	0	2	rs146147882		TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr17:77709072G>A	uc002jxa.2	+	3	650	c.630G>A	c.(628-630)CCG>CCA	p.P210P		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	210					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCGAGTCCCCGGAGAGGAGGG	0.647													A	77709072	G	A	77709072	2	1	107	1	0	0	0	0	0	0	0	1	5135	1103	39	1		1	ENPP7	17	77709072	Silent	SNP	G	TCGA-BR-8686-01A-11D-2394-08	3621812	77709072	3486138	101	73670											
EVI5L	115704	broad.mit.edu	37	chr19	7911558	7911558	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctggccaagctcgaagagCagaaccggtgagttgggggc	17	9	0	3			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr19:7911558C>A	uc002min.2	+	2	284	c.130C>A	c.(130-132)CAG>AAG	p.Q44K	EVI5L_uc010xjz.1_Missense_Mutation_p.Q44K	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	44						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						GCTCGAAGAGCAGAACCGGTG	0.652													A	7911558	C	A	7911558	3	1	107	1	0	0	0	0	1	0	0	0	5290	711	25	5	132	5	EVI5L	19	7911558	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08		7911558	51217425	102	73671											
PRAM1	84106	broad.mit.edu	37	chr19	8555622	8555622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcatcatcttcgtgtgaaCcacgatctccccttcaaact	5	14	5	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr19:8555622C>T	uc002mkd.2	-	7	1782	c.1762G>A	c.(1762-1764)GTT>ATT	p.V588I	PRAM1_uc002mkc.2_Missense_Mutation_p.V587I	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	636	SH3.						lipid binding|protein binding				0						TTCGTGTGAACCACGATCTCC	0.617													T	8555622	C	T	8555622	3	4	107	1	0	0	0	0	1	0	0	0	12423	507	18	4	266	4	PRAM1	19	8555622	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	644064	8555622	50573361	103	73672											
KIRREL2	84063	broad.mit.edu	37	chr19	36351817	36351817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctttcgtccagttgggcCgattctgcaggcaaagccgg	12	12	2	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr19:36351817C>T	uc002ocb.3	+	8	1147	c.935C>T	c.(934-936)CCG>CTG	p.P312L	KIRREL2_uc002obz.3_Missense_Mutation_p.P312L|KIRREL2_uc002oca.3_Missense_Mutation_p.P262L|KIRREL2_uc002occ.3_Missense_Mutation_p.P259L|KIRREL2_uc002ocd.3_Missense_Mutation_p.P309L	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	312	Extracellular (Potential).|Ig-like C2-type 4.				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGTTGGGCCGATTCTGCAG	0.647													T	36351817	C	T	36351817	3	4	107	1	0	0	0	0	1	0	0	0	8325	652	23	1	965	1	KIRREL2	19	36351817	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	27796195	36351817	22777166	104	73673											
ZNF420	147923	broad.mit.edu	37	chr19	37619007	37619007	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagaatgtgggaaggccTttatccgtggctcacaactt	12	8	1	2			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr19:37619007T>C	uc002ofl.2	+	5	1329	c.1114T>C	c.(1114-1116)TTT>CTT	p.F372L		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	372	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGGAAGGCCTTTATCCGTGG	0.433													C	37619007	T	C	37619007	3	2	107	1	0	0	0	0	1	0	0	0	17894	1609	56	3	1124	3	ZNF420	19	37619007	Missense_Mutation	SNP	T	TCGA-BR-8686-01A-11D-2394-08	1267190	37619007	21509976	105	73674											
IL28B	282617	broad.mit.edu	37	chr19	39734787	39734787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctccaaagccacggggCgctccctcacctgaggagag	12	16	1	2	rs144570763		TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr19:39734787C>T	uc010xut.1	-	3	273	c.269G>A	c.(268-270)CGC>CAC	p.R90H	IL28B_uc010xuu.1_Missense_Mutation_p.R90H	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	interleukin 28B	90					response to virus	extracellular space	cytokine activity				0	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AGCCACGGGGCGCTCCCTCAC	0.378													T	39734787	C	T	39734787	3	4	107	1	0	0	0	0	1	0	0	0	7683	768	27	1	332	1	IL28B	19	39734787	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	2115780	39734787	19394196	106	73675											
ARHGEF1	9138	broad.mit.edu	37	chr19	42396407	42396407	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctctcttgagcaggttctCcgggtgccggtccctcccaa	10	16	3	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr19:42396407C>T	uc002orx.2	+	6	439	c.330C>T	c.(328-330)CTC>CTT	p.L110L	ARHGEF1_uc002orw.1_Silent_p.L110L|ARHGEF1_uc002ory.2_Silent_p.L77L|ARHGEF1_uc002orz.2_5'UTR|ARHGEF1_uc002osa.2_Silent_p.L125L|ARHGEF1_uc002osb.2_Silent_p.L92L	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	110	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		AGCAGGTTCTCCGGGTGCCGG	0.607													T	42396407	C	T	42396407	2	4	107	1	0	0	0	0	0	0	0	1	893	842	30	4		4	ARHGEF1	19	42396407	Silent	SNP	C	TCGA-BR-8686-01A-11D-2394-08	2661620	42396407	16732576	107	73676											
PNMAL1	55228	broad.mit.edu	37	chr19	46973369	46973369	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacccttccaggcacatttCgccatgggcttcttcaaagc	9	14	2	0	rs112515812		TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr19:46973369C>T	uc002peq.3	-	2	1230	c.924G>A	c.(922-924)GCG>GCA	p.A308A	PNMAL1_uc002per.3_Silent_p.A308A	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	PNMA-like 1 isoform a	308											0		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		AGGCACATTTCGCCATGGGCT	0.587													T	46973369	C	T	46973369	2	4	107	1	0	0	0	0	0	0	0	1	12157	871	31	1		1	PNMAL1	19	46973369	Silent	SNP	C	TCGA-BR-8686-01A-11D-2394-08	4576962	46973369	12155614	108	73677											
PIH1D1	55011	broad.mit.edu	37	chr19	49954783	49954783	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgcgccgaatcagcaccgaTcgcctccgcctcgcttagcc	9	19	1	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr19:49954783T>C	uc002pns.2	-	1	333	c.49A>G	c.(49-51)ATC>GTC	p.I17V	PIH1D1_uc010yap.1_Missense_Mutation_p.I17V|PIH1D1_uc010yaq.1_Missense_Mutation_p.I17V|ALDH16A1_uc002pnt.2_5'Flank|ALDH16A1_uc010yar.1_5'Flank|ALDH16A1_uc010yas.1_5'Flank|ALDH16A1_uc010yat.1_5'Flank	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	NOP17	17					box C/D snoRNP assembly	pre-snoRNP complex					0		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		TCAGCACCGATCGCCTCCGCC	0.602													C	49954783	T	C	49954783	3	2	107	1	0	0	0	0	1	0	0	0	11906	1435	50	3	859	3	PIH1D1	19	49954783	Missense_Mutation	SNP	T	TCGA-BR-8686-01A-11D-2394-08	2981414	49954783	9174200	109	73678											
ZNF549	256051	broad.mit.edu	37	chr19	58049391	58049391	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgcaatgtatgtgggaaatCattccgccacaaacaaacat	8	9	1	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr19:58049391C>T	uc002qpb.1	+	4	1268	c.1019C>T	c.(1018-1020)TCA>TTA	p.S340L	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.S327L	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	340	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTGGGAAATCATTCCGCCAC	0.428													T	58049391	C	T	58049391	3	4	107	1	0	0	0	0	1	0	0	0	17978	838	29	4	990	4	ZNF549	19	58049391	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	8094608	58049391	1079592	110	73679											
C20orf54	113278	broad.mit.edu	37	chr20	741724	741724	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgagaagagccgcagcacGttgaccagagggaacatgag	15	9	0	5			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr20:741724G>A	uc002wed.3	-	5	1695	c.1356C>T	c.(1354-1356)AAC>AAT	p.N452N	C20orf54_uc002wee.2_3'UTR	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	hypothetical protein LOC113278 precursor	452	Helical; (Potential).				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity			ovary(2)	2						GCCGCAGCACGTTGACCAGAG	0.692													A	741724	G	A	741724	2	1	107	1	0	0	0	0	0	0	0	1	2114	1136	40	1		1	C20orf54	20	741724	Silent	SNP	G	TCGA-BR-8686-01A-11D-2394-08		741724	62283796	111	73680											
BFSP1	631	broad.mit.edu	37	chr20	17474983	17474983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagatggttcctctgcaccGggtgtgaccatggcacaggg	14	10	1	2			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr20:17474983G>A	uc002wpo.2	-	8	1773	c.1734C>T	c.(1732-1734)CCC>CCT	p.P578P	BFSP1_uc002wpp.2_Silent_p.P453P|BFSP1_uc010zrn.1_Silent_p.P439P|BFSP1_uc010zro.1_Silent_p.P439P	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	filensin isoform 1	578	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)	1						CCTCTGCACCGGGTGTGACCA	0.577													A	17474983	G	A	17474983	2	1	107	1	0	0	0	0	0	0	0	1	1415	1103	39	1		1	BFSP1	20	17474983	Silent	SNP	G	TCGA-BR-8686-01A-11D-2394-08	16733259	17474983	45550537	112	73681											
NCOA6	23054	broad.mit.edu	37	chr20	33329879	33329879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattctgaggattcagcccaCtgttgttaggaaagctccca	9	10	2	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr20:33329879C>T	uc002xav.2	-	12	6752	c.4181G>A	c.(4180-4182)AGT>AAT	p.S1394N	NCOA6_uc002xaw.2_Missense_Mutation_p.S1394N	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1394					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						ATTCAGCCCACTGTTGTTAGG	0.507													T	33329879	C	T	33329879	3	4	107	1	0	0	0	0	1	0	0	0	10233	565	20	4	2030	4	NCOA6	20	33329879	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	15854896	33329879	29695641	113	73682											
CHD6	84181	broad.mit.edu	37	chr20	40084476	40084476	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttcccctcagactggatGgtgatggtgtgcgttcgcct	12	12	1	2			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr20:40084476G>A	uc002xka.1	-	19	3151	c.2973C>T	c.(2971-2973)ACC>ACT	p.T991T	CHD6_uc002xkd.2_Silent_p.T969T	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	991					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				CAGACTGGATGGTGATGGTGT	0.478													A	40084476	G	A	40084476	2	1	107	1	0	0	0	0	0	0	0	1	3329	1335	47	4		4	CHD6	20	40084476	Silent	SNP	G	TCGA-BR-8686-01A-11D-2394-08	6754597	40084476	22941044	114	73683											
GRIK1	2897	broad.mit.edu	37	chr21	31062113	31062113	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaggaccagatccaggatcGccctgctgatagctgcataa	11	11	0	3			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr21:31062113G>T	uc002yno.1	-	3	943	c.479C>A	c.(478-480)GCG>GAG	p.A160E	GRIK1_uc002ynn.2_Missense_Mutation_p.A160E|GRIK1_uc011acs.1_Missense_Mutation_p.A160E|GRIK1_uc011act.1_Missense_Mutation_p.A104E|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.2_Missense_Mutation_p.A160E	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	160	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	ATCCAGGATCGCCCTGCTGAT	0.483													T	31062113	G	T	31062113	3	4	107	1	0	0	0	0	1	0	0	0	6773	1087	38	5	2497	5	GRIK1	21	31062113	Missense_Mutation	SNP	G	TCGA-BR-8686-01A-11D-2394-08		31062113	17067782	115	73684											
KRTAP19-1	337882	broad.mit.edu	37	chr21	31852625	31852625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctccgtagtagctgccGtagtgactcatggtgtcagg	14	10	2	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr21:31852625G>A	uc011acx.1	-	1	12	c.12C>T	c.(10-12)TAC>TAT	p.Y4Y		NM_181607	NP_853638	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	4						intermediate filament					0						AGTAGCTGCCGTAGTGACTCA	0.547													A	31852625	G	A	31852625	2	1	107	1	0	0	0	0	0	0	0	1	8528	1140	40	1		1	KRTAP19-1	21	31852625	Silent	SNP	G	TCGA-BR-8686-01A-11D-2394-08	790512	31852625	16277270	116	73685											
YPEL1	29799	broad.mit.edu	37	chr22	22057675	22057675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacgtatttccacccgagcGtggtcttgcagttctcgcag	10	13	3	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr22:22057675G>A	uc002zvl.2	-	4	586	c.254C>T	c.(253-255)ACG>ATG	p.T85M	YPEL1_uc002zvm.2_RNA	NM_013313	NP_037445	O60688	YPEL1_HUMAN	yippee-like 1	85						nucleus					0	Colorectal(54;0.105)					CCACCCGAGCGTGGTCTTGCA	0.632													A	22057675	G	A	22057675	3	1	107	1	0	0	0	0	1	0	0	0	17486	1145	40	1	113	1	YPEL1	22	22057675	Missense_Mutation	SNP	G	TCGA-BR-8686-01A-11D-2394-08		22057675	29246891	117	73686											
CERK	64781	broad.mit.edu	37	chr22	47091193	47091193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccttcatagcagtggtgGgagaggaaggtctttaaacc	13	8	2	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr22:47091193G>A	uc003bia.2	-	9	1070	c.963C>T	c.(961-963)TCC>TCT	p.S321S	CERK_uc010hae.2_Silent_p.S123S	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	ceramide kinase	321					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			skin(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCAGTGGTGGGAGAGGAAGG	0.527													A	47091193	G	A	47091193	2	1	107	1	0	0	0	0	0	0	0	1	3267	1219	43	4		4	CERK	22	47091193	Silent	SNP	G	TCGA-BR-8686-01A-11D-2394-08	25033518	47091193	4213373	118	73687											
TYMP	1890	broad.mit.edu	37	chr22	50967595	50967595	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgccgccagggcaggtgcGaggaccaggctgaccttgtc	15	13	0	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr22:50967595G>A	uc003bmb.3	-	2	507	c.387C>T	c.(385-387)CTC>CTT	p.L129L	TYMP_uc003bmc.3_Silent_p.L129L|TYMP_uc003bmd.3_Silent_p.L129L|TYMP_uc010hbd.2_Silent_p.L129L|TYMP_uc003bme.3_Silent_p.L129L|TYMP_uc003bmf.3_Silent_p.L129L|TYMP_uc011arz.1_Silent_p.L129L	NM_001113756	NP_001107228	P19971	TYPH_HUMAN	endothelial cell growth factor 1	129					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			ovary(1)	1		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	GGGCAGGTGCGAGGACCAGGC	0.622													A	50967595	G	A	50967595	2	1	107	1	0	0	0	0	0	0	0	1	16808	1045	37	1		1	TYMP	22	50967595	Silent	SNP	G	TCGA-BR-8686-01A-11D-2394-08	3876402	50967595	336971	119	73688											
FIGF	2277	broad.mit.edu	37	chrX	15381403	15381403	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaactagaagcagccctgatCtgctgttcagatcgttccaa	8	11	2	3			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chrX:15381403C>A	uc004cwt.1	-	2	638	c.129G>T	c.(127-129)CAG>CAT	p.Q43H		NM_004469	NP_004460	O43915	VEGFD_HUMAN	vascular endothelial growth factor D	43					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Hepatocellular(33;0.183)					CAGCCCTGATCTGCTGTTCAG	0.378													A	15381403	C	A	15381403	3	1	107	1	0	0	0	0	1	0	0	0	5889	912	32	5	959	5	FIGF	23	15381403	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08		15381403	139889157	120	73689											
H2BFWT	158983	broad.mit.edu	37	chrX	103267818	103267818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaggcgcacagccatccGggtctcccaggcagtgatgg	14	14	1	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chrX:103267818G>A	uc004elr.2	-	1	439	c.415C>T	c.(415-417)CGG>TGG	p.R139W		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	139					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			ovary(1)	1						ACAGCCATCCGGGTCTCCCAG	0.642													A	103267818	G	A	103267818	3	1	107	1	0	0	0	0	1	0	0	0	6932	1115	39	1	120	1	H2BFWT	23	103267818	Missense_Mutation	SNP	G	TCGA-BR-8686-01A-11D-2394-08	87886415	103267818	52002742	121	73690											
IL1RAPL2	26280	broad.mit.edu	37	chrX	105011214	105011214	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtggaagggatccaaaAgcagcaaattaaattctaag	9	6	2	0			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chrX:105011214A>T	uc004elz.1	+	11	2377	c.1621A>T	c.(1621-1623)AGC>TGC	p.S541C		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	541	Cytoplasmic (Potential).|TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						GGGATCCAAAAGCAGCAAATT	0.408													T	105011214	A	T	105011214	3	4	107	1	0	0	0	0	1	0	0	0	7662	72	3	5	1659	5	IL1RAPL2	23	105011214	Missense_Mutation	SNP	A	TCGA-BR-8686-01A-11D-2394-08	1743396	105011214	50259346	122	73691											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298874	125298874	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgccaccctctcgagagCacaggggccggatgttctgc	13	14	2	1			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chrX:125298874C>A	uc004euk.1	-	1	1061	c.1034G>T	c.(1033-1035)TGC>TTC	p.C345F		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	345										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						CTCTCGAGAGCACAGGGGCCG	0.617													A	125298874	C	A	125298874	3	1	107	1	0	0	0	0	1	0	0	0	4265	710	25	5	361	5	DCAF12L2	23	125298874	Missense_Mutation	SNP	C	TCGA-BR-8686-01A-11D-2394-08	20287660	125298874	29971686	123	73692											
MAGEA12	4111	broad.mit.edu	37	chrX	151900231	151900231	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcacgatctgattgtcgccCagcaggccatcgtaggagag	14	11	1	2			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chrX:151900231C>A	uc010ntp.2	-	3	924	c.570G>T	c.(568-570)CTG>CTT	p.L190L	MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Silent_p.L190L|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	190	MAGE.									skin(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					GATTGTCGCCCAGCAGGCCAT	0.577													A	151900231	C	A	151900231	2	1	107	1	0	0	0	0	0	0	0	1	9166	581	21	5		5	MAGEA12	23	151900231	Silent	SNP	C	TCGA-BR-8686-01A-11D-2394-08	26601357	151900231	3370329	124	73693											
ATAD3B	83858	broad.mit.edu	37	chr1	1423270	1423270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcatggatgaagcagaCgccttccttcggaagcgagc	11	12	2	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr1:1423270C>T	uc001afv.2	+	12	1343	c.1242C>T	c.(1240-1242)GAC>GAT	p.D414D	ATAD3B_uc001afx.2_Silent_p.D368D|ATAD3B_uc001afy.2_5'Flank	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	AAA-ATPase  TOB3	414							ATP binding|nucleoside-triphosphatase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ATGAAGCAGACGCCTTCCTTC	0.652													T	1423270	C	T	1423270	2	4	108	1	0	0	0	0	0	0	0	1	1074	535	19	1		1	ATAD3B	1	1423270	Silent	SNP	C	TCGA-BR-8687-01A-11D-2394-08		1423270	247827351	1	73694											
CHD5	26038	broad.mit.edu	37	chr1	6169960	6169960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagccaggcgggcgttgaGggccatggcggggtggttgg	21	8	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr1:6169960G>A	uc001amb.1	-	38	5573	c.5473C>T	c.(5473-5475)CTC>TTC	p.L1825F	CHD5_uc001alz.1_Missense_Mutation_p.L682F|CHD5_uc001ama.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1825					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CGGGCGTTGAGGGCCATGGCG	0.667													A	6169960	G	A	6169960	3	1	108	1	0	0	0	0	1	0	0	0	3328	1000	35	4	407	4	CHD5	1	6169960	Missense_Mutation	SNP	G	TCGA-BR-8687-01A-11D-2394-08	4746690	6169960	243080661	2	73695											
PER3	8863	broad.mit.edu	37	chr1	7887798	7887798	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcacccttgcagttaaacTtacttcaggaagagatgccc	8	12	2	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr1:7887798T>G	uc001aoo.2	+	17	2960	c.2785T>G	c.(2785-2787)TTA>GTA	p.L929V	PER3_uc009vmg.1_Missense_Mutation_p.L937V|PER3_uc009vmh.1_Missense_Mutation_p.L930V|PER3_uc001aop.2_Missense_Mutation_p.L937V|PER3_uc010nzw.1_Missense_Mutation_p.L618V	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	929					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGTTAAACTTACTTCAGGA	0.488													G	7887798	T	G	7887798	3	3	108	1	0	0	0	0	1	0	0	0	11731	1606	56	5	2851	5	PER3	1	7887798	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	1717838	7887798	241362823	3	73696											
MYOM3	127294	broad.mit.edu	37	chr1	24417475	24417475	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcgatccattccccagacTcgccctggcacctgttggag	11	15	0	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr1:24417475T>C	uc001bin.3	-	12	1407	c.1244A>G	c.(1243-1245)GAG>GGG	p.E415G	MYOM3_uc001bim.3_Missense_Mutation_p.E72G|MYOM3_uc001bio.2_Missense_Mutation_p.E415G|MYOM3_uc001bip.1_Missense_Mutation_p.E72G	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	415	Fibronectin type-III 1.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TTCCCCAGACTCGCCCTGGCA	0.622													C	24417475	T	C	24417475	3	2	108	1	0	0	0	0	1	0	0	0	10093	1551	54	3	3173	3	MYOM3	1	24417475	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	16529677	24417475	224833146	4	73697											
ARID1A	8289	broad.mit.edu	37	chr1	27106130	27106134	+	Frame_Shift_Del	DEL	TGTTG	TGTTG	-													cacagccactatggatgacaTgttgtctactcggtctagca							TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr1:27106130_27106134delTGTTG	uc001bmv.1	+	20	6114_6118	c.5741_5745delTGTTG	c.(5740-5745)ATGTTGfs	p.M1914fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.M1697fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.M760fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.M242fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.M156fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1914_1915					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATGGATGACATGTTGTCTACTCGGT	0.541			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								-	27106134	TGTTG	-	27106130	7	5	108	1	0	1	0	1	0	0	0	0	913	1464	51	0	5819	0	ARID1A	1	27106130	Frame_Shift_Del	DEL	TGTTG	TCGA-BR-8687-01A-11D-2394-08	2688655	27106130	222144491	5	73698											
KANK4	163782	broad.mit.edu	37	chr1	62739395	62739395	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctctgattcccttgtttatGaccatctggcccccatagga	8	13	2	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr1:62739395G>A	uc001dah.3	-	3	1758	c.1381C>T	c.(1381-1383)CAT>TAT	p.H461Y	KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	461										ovary(3)|skin(2)|lung(1)	6						CCTTGTTTATGACCATCTGGC	0.557													A	62739395	G	A	62739395	3	1	108	1	0	0	0	0	1	0	0	0	7979	1290	45	4	1638	4	KANK4	1	62739395	Missense_Mutation	SNP	G	TCGA-BR-8687-01A-11D-2394-08	35633265	62739395	186511226	6	73699											
SLC35D1	23169	broad.mit.edu	37	chr1	67486081	67486081	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccaactattgtagttgtaaGagcagaattatactgcgtgc	10	7	0	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr1:67486081G>A	uc001ddk.2	-	10	1231	c.847C>T	c.(847-849)CTT>TTT	p.L283F	SLC35D1_uc010oph.1_Missense_Mutation_p.L204F	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-glucuronic	283	Helical; (Potential).				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity				0					Lorazepam(DB00186)	GTAGTTGTAAGAGCAGAATTA	0.328													A	67486081	G	A	67486081	3	1	108	1	0	0	0	0	1	0	0	0	14581	942	33	4	232	4	SLC35D1	1	67486081	Missense_Mutation	SNP	G	TCGA-BR-8687-01A-11D-2394-08	4746686	67486081	181764540	7	73700											
C1orf173	127254	broad.mit.edu	37	chr1	75036970	75036970	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cctcccgtgataatcctaatCggaatttttcagctgctcct	6	13	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr1:75036970C>A	uc001dgg.2	-	14	4643	c.4424G>T	c.(4423-4425)CGA>CTA	p.R1475L		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1475	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						TAATCCTAATCGGAATTTTTC	0.562													A	75036970	C	A	75036970	3	1	108	1	0	0	0	0	1	0	0	0	2014	884	31	5	172	5	C1orf173	1	75036970	Missense_Mutation	SNP	C	TCGA-BR-8687-01A-11D-2394-08	7550889	75036970	174213651	8	73701											
C1orf103	55791	broad.mit.edu	37	chr1	111494883	111494883	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggcagttgcaagtatcTtttgctgcactgaaggaggc	14	7	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr1:111494883T>G	uc001eaa.2	-	2	879	c.623A>C	c.(622-624)AAG>ACG	p.K208T	C1orf103_uc001dzz.2_Intron|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	receptor-interacting factor 1 isoform 1	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding				0		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)		TGCAAGTATCTTTTGCTGCAC	0.448													G	111494883	T	G	111494883	3	3	108	1	0	0	0	0	1	0	0	0	1977	1609	56	5	1698	5	C1orf103	1	111494883	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	36457913	111494883	137755738	9	73702											
RPRD2	23248	broad.mit.edu	37	chr1	150429979	150429979	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctgccacacctgaacctgtGacagataatcgtgatgtgga	10	10	1	4			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr1:150429979G>A	uc009wlr.2	+	8	1287	c.1086G>A	c.(1084-1086)GTG>GTA	p.V362V	RPRD2_uc010pcc.1_Silent_p.V336V|RPRD2_uc001eup.3_Silent_p.V336V	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	362							protein binding			ovary(1)	1						CTGAACCTGTGACAGATAATC	0.448													A	150429979	G	A	150429979	2	1	108	1	0	0	0	0	0	0	0	1	13617	1277	45	4		4	RPRD2	1	150429979	Silent	SNP	G	TCGA-BR-8687-01A-11D-2394-08	38935096	150429979	98820642	10	73703											
IFI16	3428	broad.mit.edu	37	chr1	159023326	159023326	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaattttcttttgcagaaaAatgtaaggggtgaattcact	8	4	2	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr1:159023326A>C	uc001ftg.2	+	10	2211	c.1921A>C	c.(1921-1923)AAT>CAT	p.N641H	IFI16_uc010pis.1_Missense_Mutation_p.N641H|IFI16_uc001fth.2_Missense_Mutation_p.N184H|IFI16_uc010pit.1_Missense_Mutation_p.N240H	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	697	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)					TTTGCAGAAAAATGTAAGGGG	0.353													C	159023326	A	C	159023326	3	2	108	1	0	0	0	0	1	0	0	0	7511	14	1	5	1955	5	IFI16	1	159023326	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	8593347	159023326	90227295	11	73704											
TNR	7143	broad.mit.edu	37	chr1	175355276	175355276	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgcactgagtattggcTcaggggaggctgcagccgga	17	10	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr1:175355276T>C	uc001gkp.1	-	6	1750	c.1669A>G	c.(1669-1671)AGC>GGC	p.S557G	TNR_uc009wwu.1_Missense_Mutation_p.S557G	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	557	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					GAGTATTGGCTCAGGGGAGGC	0.602													C	175355276	T	C	175355276	3	2	108	1	0	0	0	0	1	0	0	0	16335	1551	54	3	2471	3	TNR	1	175355276	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	16331950	175355276	73895345	12	73705											
NAV1	89796	broad.mit.edu	37	chr1	201687644	201687644	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcggctgcaggctggtgaCgcgccctctgtgggtgggag	19	12	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr1:201687644C>T	uc001gwu.2	+	3	1334	c.987C>T	c.(985-987)GAC>GAT	p.D329D		NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	329					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						AGGCTGGTGACGCGCCCTCTG	0.692													T	201687644	C	T	201687644	2	4	108	1	0	0	0	0	0	0	0	1	10183	535	19	1		1	NAV1	1	201687644	Silent	SNP	C	TCGA-BR-8687-01A-11D-2394-08	26332368	201687644	47562977	13	73706											
OR2M5	127059	broad.mit.edu	37	chr1	248309375	248309375	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtgttaggaaagggcaAgtgtggagagtgagtacttt	16	2	0	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr1:248309375A>T	uc010pze.1	+	1	926	c.926A>T	c.(925-927)AAG>ATG	p.K309M		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	309	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GGAAAGGGCAAGTGTGGAGAG	0.428													T	248309375	A	T	248309375	3	4	108	1	0	0	0	0	1	0	0	0	11013	72	3	5	928	5	OR2M5	1	248309375	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	46621731	248309375	941246	14	73707											
MSGN1	343930	broad.mit.edu	37	chr2	17998186	17998186	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaagccagcgagagggagaAgctcaggatgaggaccttgg	17	7	1	3			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr2:17998186A>T	uc010yjt.1	+	1	401	c.401A>T	c.(400-402)AAG>ATG	p.K134M		NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN	mesogenin 1	134	Basic motif.				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAGAGGGAGAAGCTCAGGATG	0.622													T	17998186	A	T	17998186	3	4	108	1	0	0	0	0	1	0	0	0	9869	72	3	5	403	5	MSGN1	2	17998186	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08		17998186	225201187	15	73708											
DNMT3A	1788	broad.mit.edu	37	chr2	25497834	25497834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttccagcgtgccagccaCtcgtcccgcttgcgcttgct	9	17	0	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr2:25497834C>T	uc002rgc.2	-	6	872	c.615G>A	c.(613-615)GAG>GAA	p.E205E	DNMT3A_uc002rgd.2_Silent_p.E205E|DNMT3A_uc010eyi.2_RNA	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	205	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGCCAGCCACTCGTCCCGCT	0.657			Mis|F|N|S		AML								T	25497834	C	T	25497834	2	4	108	1	0	0	0	0	0	0	0	1	4676	564	20	4		4	DNMT3A	2	25497834	Silent	SNP	C	TCGA-BR-8687-01A-11D-2394-08	7499648	25497834	217701539	16	73709											
IMMT	10989	broad.mit.edu	37	chr2	86406632	86406632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgtctgagtaaggtatgGttttctctacactttcccgg	10	8	2	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr2:86406632G>A	uc002sqz.3	-	3	621	c.233C>T	c.(232-234)ACC>ATC	p.T78I	IMMT_uc002srb.3_Missense_Mutation_p.T78I|IMMT_uc002sra.3_Missense_Mutation_p.T78I|IMMT_uc010ytd.1_Missense_Mutation_p.T78I|IMMT_uc010yte.1_Missense_Mutation_p.T78I|IMMT_uc002srd.2_Missense_Mutation_p.T78I|IMMT_uc002sre.3_Missense_Mutation_p.T78I|IMMT_uc010ytf.1_Missense_Mutation_p.T78I|IMMT_uc010fgs.1_Missense_Mutation_p.T78I	NM_006839	NP_006830	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial isoform 1	78	Mitochondrial intermembrane (Potential).					integral to mitochondrial inner membrane	protein binding			skin(1)	1						GTAAGGTATGGTTTTCTCTAC	0.408													A	86406632	G	A	86406632	3	1	108	1	0	0	0	0	1	0	0	0	7718	1261	44	4	2095	4	IMMT	2	86406632	Missense_Mutation	SNP	G	TCGA-BR-8687-01A-11D-2394-08	60908798	86406632	156792741	17	73710											
KIF5C	3800	broad.mit.edu	37	chr2	149803436	149803436	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgaacacagctctagaAgtcacagtatcttcctgata	7	9	3	4			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr2:149803436A>C	uc010zbu.1	+	8	981	c.613A>C	c.(613-615)AGT>CGT	p.S205R	KIF5C_uc002tws.1_5'Flank	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	205	Kinesin-motor.|Microtubule-binding.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)		CAGCTCTAGAAGTCACAGTAT	0.343													C	149803436	A	C	149803436	3	2	108	1	0	0	0	0	1	0	0	0	8307	72	3	5	565	5	KIF5C	2	149803436	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	63396804	149803436	93395937	18	73711											
LRP2	4036	broad.mit.edu	37	chr2	170136035	170136035	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taacccagtccacagccaggTtctctggggtttcaacagaa	9	12	2	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr2:170136035T>G	uc002ues.2	-	12	1625	c.1412A>C	c.(1411-1413)AAC>ACC	p.N471T	LRP2_uc010zdf.1_Missense_Mutation_p.N471T	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	471	LDL-receptor class B 1.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACAGCCAGGTTCTCTGGGGT	0.358													G	170136035	T	G	170136035	3	3	108	1	0	0	0	0	1	0	0	0	8956	1725	60	5	12827	5	LRP2	2	170136035	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	20332599	170136035	73063338	19	73712											
OSBPL6	114880	broad.mit.edu	37	chr2	179197734	179197734	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacgtccacagctgaatcctCaccagctgctaatgtttctg	7	13	2	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr2:179197734C>T	uc002ulx.2	+	8	1001	c.623C>T	c.(622-624)TCA>TTA	p.S208L	OSBPL6_uc002ulw.2_Missense_Mutation_p.S208L|OSBPL6_uc002uly.2_Missense_Mutation_p.S208L|OSBPL6_uc010zfe.1_Missense_Mutation_p.S208L|OSBPL6_uc002ulz.2_Missense_Mutation_p.S208L|OSBPL6_uc002uma.2_Missense_Mutation_p.S187L	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	208					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GCTGAATCCTCACCAGCTGCT	0.358													T	179197734	C	T	179197734	3	4	108	1	0	0	0	0	1	0	0	0	11281	838	29	4	688	4	OSBPL6	2	179197734	Missense_Mutation	SNP	C	TCGA-BR-8687-01A-11D-2394-08	9061699	179197734	64001639	20	73713											
TTN	7273	broad.mit.edu	37	chr2	179472303	179472303	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttctttggtccatacTtttgtaggtacagggcgacc	9	11	2	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr2:179472303T>G	uc010zfg.1	-	226	45632	c.45408A>C	c.(45406-45408)AAA>AAC	p.K15136N	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K8831N|TTN_uc010zfi.1_Missense_Mutation_p.K8764N|TTN_uc010zfj.1_Missense_Mutation_p.K8639N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16063							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTCCATACTTTTGTAGGTA	0.443													G	179472303	T	G	179472303	3	3	108	1	0	0	0	0	1	0	0	0	16732	1606	56	5	54925	5	TTN	2	179472303	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	274569	179472303	63727070	21	73714											
NUP35	129401	broad.mit.edu	37	chr2	184025818	184025818	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacgccaaaaaaagatgaaAgtcttgtatccaaagcaatg	7	7	1	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr2:184025818A>C	uc002upf.2	+	9	1043	c.940A>C	c.(940-942)AGT>CGT	p.S314R	NUP35_uc010zfs.1_Missense_Mutation_p.S296R|NUP35_uc010zft.1_Missense_Mutation_p.S196R|NUP35_uc002upg.2_RNA	NM_138285	NP_612142	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	314					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane					0						AAAAGATGAAAGTCTTGTATC	0.383													C	184025818	A	C	184025818	3	2	108	1	0	0	0	0	1	0	0	0	10763	72	3	5	974	5	NUP35	2	184025818	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	4553515	184025818	59173555	22	73715											
COL3A1	1281	broad.mit.edu	37	chr2	189860863	189860863	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacttcagggcatgcccggaAgtccaggaggaccaggaagt	14	10	1	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr2:189860863A>G	uc002uqj.1	+	23	1738	c.1621A>G	c.(1621-1623)AGT>GGT	p.S541G		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	541	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CATGCCCGGAAGTCCAGGAGG	0.348													G	189860863	A	G	189860863	3	3	108	1	0	0	0	0	1	0	0	0	3688	72	3	3	1711	3	COL3A1	2	189860863	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	5835045	189860863	53338510	23	73716											
DNAH7	56171	broad.mit.edu	37	chr2	196834765	196834765	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccaaatgaataaaattcTtctgattgcttagcataact	4	8	3	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr2:196834765T>G	uc002utj.3	-	17	2213	c.2112A>C	c.(2110-2112)GAA>GAC	p.E704D		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	704	Stem (By similarity).|Potential.				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						AATAAAATTCTTCTGATTGCT	0.338													G	196834765	T	G	196834765	3	3	108	1	0	0	0	0	1	0	0	0	4606	1606	56	5	10158	5	DNAH7	2	196834765	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	6973902	196834765	46364608	24	73717											
SCG2	7857	broad.mit.edu	37	chr2	224462479	224462479	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaactagcatcctggccaAgtactcacctaattcttgat	5	11	2	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr2:224462479A>C	uc002vnm.2	-	2	1655	c.1522T>G	c.(1522-1524)TTG>GTG	p.L508V		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	508					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			ovary(1)	1		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATCCTGGCCAAGTACTCACCT	0.448													C	224462479	A	C	224462479	3	2	108	1	0	0	0	0	1	0	0	0	13891	69	3	5	335	5	SCG2	2	224462479	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	27627714	224462479	18736894	25	73718											
BSN	8927	broad.mit.edu	37	chr3	49680049	49680049	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggagaggccccggccaaaAgtgccaccgcagtgcccgct	13	16	0	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr3:49680049A>C	uc003cxe.3	+	3	1096	c.982A>C	c.(982-984)AGT>CGT	p.S328R		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	328					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCGGCCAAAAGTGCCACCGC	0.672													C	49680049	A	C	49680049	3	2	108	1	0	0	0	0	1	0	0	0	1530	72	3	5	992	5	BSN	3	49680049	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08		49680049	148342381	26	73719											
KIAA1407	57577	broad.mit.edu	37	chr3	113753894	113753894	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttccttttcttctcttcTtgcaccagacactgagcctc	5	16	3	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr3:113753894T>G	uc003eax.2	-	6	843	c.696A>C	c.(694-696)CAA>CAC	p.Q232H	KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.Q210H|KIAA1407_uc011bip.1_Missense_Mutation_p.Q219H	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	232	Potential.									ovary(2)	2						TCTTCTCTTCTTGCACCAGAC	0.463													G	113753894	T	G	113753894	3	3	108	1	0	0	0	0	1	0	0	0	8229	1606	56	5	2162	5	KIAA1407	3	113753894	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	64073845	113753894	84268536	27	73720											
RHO	6010	broad.mit.edu	37	chr3	129251538	129251538	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccaacttcggtcccatcTtcatgaccatcccagcgttc	6	17	2	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr3:129251538T>G	uc003emt.2	+	4	954	c.859T>G	c.(859-861)TTC>GTC	p.F287V		NM_000539	NP_000530	P08100	OPSD_HUMAN	rhodopsin	287	Helical; Name=7; (Potential).				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding				0		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CGGTCCCATCTTCATGACCAT	0.557													G	129251538	T	G	129251538	3	3	108	1	0	0	0	0	1	0	0	0	13330	1609	56	5	873	5	RHO	3	129251538	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	15497644	129251538	68770892	28	73721											
EVC2	132884	broad.mit.edu	37	chr4	5586387	5586387	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatctgtgtgcaggccgacTtggtcagcatctcagatgca	13	10	3	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr4:5586387T>C	uc003gij.2	-	17	3074	c.3020A>G	c.(3019-3021)AAG>AGG	p.K1007R	EVC2_uc011bwb.1_Missense_Mutation_p.K447R|EVC2_uc003gik.2_Missense_Mutation_p.K927R	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1007	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5						GCAGGCCGACTTGGTCAGCAT	0.597													C	5586387	T	C	5586387	3	2	108	1	0	0	0	0	1	0	0	0	5286	1609	56	3	930	3	EVC2	4	5586387	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08		5586387	185567889	29	73722											
SLIT2	9353	broad.mit.edu	37	chr4	20591350	20591350	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagtgcatcctaactccaAagggattcaagtaagtcaaa	7	9	2	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr4:20591350A>G	uc003gpr.1	+	30	3376	c.3172A>G	c.(3172-3174)AAG>GAG	p.K1058E	SLIT2_uc003gps.1_Missense_Mutation_p.K1050E	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1058	EGF-like 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						CCTAACTCCAAAGGGATTCAA	0.498													G	20591350	A	G	20591350	3	3	108	1	0	0	0	0	1	0	0	0	14740	15	1	3	3290	3	SLIT2	4	20591350	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	15004963	20591350	170562926	30	73723											
TBC1D1	23216	broad.mit.edu	37	chr4	38046040	38046040	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taccacccagtgccactcgaTttaggctagatatgctgaaa	8	11	0	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr4:38046040T>G	uc003gtb.2	+	9	1814	c.1471T>G	c.(1471-1473)TTT>GTT	p.F491V	TBC1D1_uc011byd.1_Missense_Mutation_p.F491V|TBC1D1_uc010ifd.2_Missense_Mutation_p.F238V|TBC1D1_uc011byf.1_Missense_Mutation_p.F362V	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	491						nucleus	Rab GTPase activator activity			ovary(1)	1						TGCCACTCGATTTAGGCTAGA	0.383													G	38046040	T	G	38046040	3	3	108	1	0	0	0	0	1	0	0	0	15594	1493	52	5	1501	5	TBC1D1	4	38046040	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	17454690	38046040	153108236	31	73724											
RBM47	54502	broad.mit.edu	37	chr4	40440178	40440178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcacgtagaggatcttcaCggtctccatcacgtcctcgt	10	14	4	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr4:40440178C>T	uc003gvc.2	-	4	1443	c.733G>A	c.(733-735)GTG>ATG	p.V245M	RBM47_uc003gvd.2_Missense_Mutation_p.V245M|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.V207M|RBM47_uc003gvg.1_Missense_Mutation_p.V245M	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	245						nucleus	nucleotide binding|RNA binding			breast(3)	3						AGGATCTTCACGGTCTCCATC	0.622													T	40440178	C	T	40440178	3	4	108	1	0	0	0	0	1	0	0	0	13141	536	19	1	1064	1	RBM47	4	40440178	Missense_Mutation	SNP	C	TCGA-BR-8687-01A-11D-2394-08	2394138	40440178	150714098	32	73725											
ATP10D	57205	broad.mit.edu	37	chr4	47582421	47582421	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcatttctaggcatacTtaccccataccttctggatc	5	13	3	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr4:47582421T>C	uc003gxk.1	+	20	3738	c.3574T>C	c.(3574-3576)TTA>CTA	p.L1192L	ATP10D_uc003gxl.1_Silent_p.L440L	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1192	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						CTAGGCATACTTACCCCATAC	0.393													C	47582421	T	C	47582421	2	2	108	1	0	0	0	0	0	0	0	1	1118	1606	56	3		3	ATP10D	4	47582421	Silent	SNP	T	TCGA-BR-8687-01A-11D-2394-08	7142243	47582421	143571855	33	73726											
KIT	3815	broad.mit.edu	37	chr4	55561768	55561768	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatagtccgcgtgggcgacgAgattaggctgttatgcactg	14	8	0	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr4:55561768A>G	uc010igr.2	+	2	245	c.158A>G	c.(157-159)GAG>GGG	p.E53G	KIT_uc010igs.2_Missense_Mutation_p.E53G	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	53	Extracellular (Potential).|Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.E53K(2)		soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGGGCGACGAGATTAGGCTG	0.478		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				G	55561768	A	G	55561768	3	3	108	1	0	0	0	0	1	0	0	0	8329	304	11	3	164	3	KIT	4	55561768	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	7979347	55561768	135592508	34	73727											
STAP1	26228	broad.mit.edu	37	chr4	68447130	68447130	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacagagcagagtacgtcCgtggaaaaagagaaggaacc	14	7	0	4			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr4:68447130C>T	uc003hde.3	+	5	553	c.471C>T	c.(469-471)TCC>TCT	p.S157S	STAP1_uc003hdf.2_Silent_p.S157S	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	157					cellular membrane fusion|intracellular protein transport	cytoplasm					0						AGAGTACGTCCGTGGAAAAAG	0.428													T	68447130	C	T	68447130	2	4	108	1	0	0	0	0	0	0	0	1	15251	639	23	1		1	STAP1	4	68447130	Silent	SNP	C	TCGA-BR-8687-01A-11D-2394-08	12885362	68447130	122707146	35	73728											
THAP9	79725	broad.mit.edu	37	chr4	83838294	83838294	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggactttggtcttggaaaacTtgatgctgatgaaacgccac	11	8	1	3			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr4:83838294T>G	uc003hnt.2	+	5	1048	c.929T>G	c.(928-930)CTT>CGT	p.L310R	THAP9_uc003hns.1_Missense_Mutation_p.L166R|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Missense_Mutation_p.L27R	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	310							DNA binding|metal ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5		Hepatocellular(203;0.114)				CTTGGAAAACTTGATGCTGAT	0.403													G	83838294	T	G	83838294	3	3	108	1	0	0	0	0	1	0	0	0	15848	1609	56	5	947	5	THAP9	4	83838294	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	15391164	83838294	107315982	36	73729											
TACR3	6870	broad.mit.edu	37	chr4	104577395	104577395	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgatacttgtcacaggtatCtcctgggatttctcctcccc	7	13	3	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr4:104577395C>T	uc003hxe.1	-	3	987	c.844G>A	c.(844-846)GAT>AAT	p.D282N		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	282	Cytoplasmic (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TCACAGGTATCTCCTGGGATT	0.398													T	104577395	C	T	104577395	3	4	108	1	0	0	0	0	1	0	0	0	15504	913	32	4	565	4	TACR3	4	104577395	Missense_Mutation	SNP	C	TCGA-BR-8687-01A-11D-2394-08	20739101	104577395	86576881	37	73730											
COL25A1	84570	broad.mit.edu	37	chr4	110223041	110223041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtacaggcaagacaccacGgccaccactgacaggagggc	13	13	0	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr4:110223041G>A	uc003hze.1	-	2	666	c.135C>T	c.(133-135)GCC>GCT	p.A45A	COL25A1_uc003hzg.2_Silent_p.A45A|COL25A1_uc003hzh.1_Silent_p.A45A	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	45	Helical; Signal-anchor for type II membrane protein; (Potential).					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AAGACACCACGGCCACCACTG	0.662													A	110223041	G	A	110223041	2	1	108	1	0	0	0	0	0	0	0	1	3684	1103	39	1		1	COL25A1	4	110223041	Silent	SNP	G	TCGA-BR-8687-01A-11D-2394-08	5645646	110223041	80931235	38	73731											
DDX60	55601	broad.mit.edu	37	chr4	169138150	169138150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggctaagacaacgttgtcGtcttcattttcacatagctc	7	10	3	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr4:169138150G>A	uc003irp.2	-	38	5365	c.5073C>T	c.(5071-5073)GAC>GAT	p.D1691D	DDX60_uc003iro.2_3'UTR	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1691							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CAACGTTGTCGTCTTCATTTT	0.333													A	169138150	G	A	169138150	2	1	108	1	0	0	0	0	0	0	0	1	4378	1136	40	1		1	DDX60	4	169138150	Silent	SNP	G	TCGA-BR-8687-01A-11D-2394-08	58915109	169138150	22016126	39	73732											
FAT1	2195	broad.mit.edu	37	chr4	187554958	187554958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcccttgtccacatcgaaGtgactgtcgtagttgccacc	9	13	0	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr4:187554958G>A	uc003izf.2	-	7	4391	c.4203C>T	c.(4201-4203)CAC>CAT	p.H1401H		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1401	Extracellular (Potential).|Cadherin 12.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CCACATCGAAGTGACTGTCGT	0.423										HNSCC(5;0.00058)			A	187554958	G	A	187554958	2	1	108	1	0	0	0	0	0	0	0	1	5689	1020	36	4		4	FAT1	4	187554958	Silent	SNP	G	TCGA-BR-8687-01A-11D-2394-08	18416808	187554958	3599318	40	73733											
TRIML2	205860	broad.mit.edu	37	chr4	189012817	189012817	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtccccatcaccgaccccgTgagcaagactttctctccgg	9	17	2	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr4:189012817T>C	uc003izl.2	-	7	910	c.874A>G	c.(874-876)ACG>GCG	p.T292A	TRIML2_uc003izj.1_Missense_Mutation_p.T120A|TRIML2_uc003izk.1_Missense_Mutation_p.T100A|TRIML2_uc011cle.1_Missense_Mutation_p.T367A	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	292	B30.2/SPRY.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ACCGACCCCGTGAGCAAGACT	0.577													C	189012817	T	C	189012817	3	2	108	1	0	0	0	0	1	0	0	0	16548	1696	59	3	293	3	TRIML2	4	189012817	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	1457859	189012817	2141459	41	73734											
ZDHHC11	79844	broad.mit.edu	37	chr5	840653	840653	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggcccaggtgcaccaaGccaagaaagtccagcaggag	13	12	0	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr5:840653G>A	uc011cma.1	-	5	1125	c.741C>T	c.(739-741)GGC>GGT	p.G247G	ZDHHC11_uc003jbj.2_RNA|ZDHHC11_uc010itd.1_RNA|ZDHHC11_uc003jbk.2_Silent_p.G34G	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	247	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			skin(1)|pancreas(1)	2			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GGTGCACCAAGCCAAGAAAGT	0.607													A	840653	G	A	840653	2	1	108	1	0	0	0	0	0	0	0	1	17598	958	34	2		2	ZDHHC11	5	840653	Silent	SNP	G	TCGA-BR-8687-01A-11D-2394-08		840653	180074607	42	73735											
IRX4	50805	broad.mit.edu	37	chr5	1879701	1879701	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccctccgcgtagggccgcTtctcgtctgcgcacttgttc	11	17	2	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr5:1879701T>G	uc003jcz.2	-	4	772	c.653A>C	c.(652-654)AAG>ACG	p.K218T	IRX4_uc011cmf.1_Missense_Mutation_p.K79T	NM_016358	NP_057442	P78413	IRX4_HUMAN	iroquois homeobox 4	218					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(108;0.242)		GTAGGGCCGCTTCTCGTCTGC	0.493													G	1879701	T	G	1879701	3	3	108	1	0	0	0	0	1	0	0	0	7846	1609	56	5	914	5	IRX4	5	1879701	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	1039048	1879701	179035559	43	73736											
ANKH	56172	broad.mit.edu	37	chr5	14713673	14713673	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccaggtagggtaggaccacGaggctggcgatgaggacgat	17	9	0	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr5:14713673G>A	uc003jfm.3	-	10	1576	c.1245C>T	c.(1243-1245)CTC>CTT	p.L415L	ANKH_uc003jfl.3_Silent_p.L128L	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	progressive ankylosis protein	415	Helical; (Potential).				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			upper_aerodigestive_tract(1)	1						GTAGGACCACGAGGCTGGCGA	0.557													A	14713673	G	A	14713673	2	1	108	1	0	0	0	0	0	0	0	1	627	1045	37	1		1	ANKH	5	14713673	Silent	SNP	G	TCGA-BR-8687-01A-11D-2394-08	12833972	14713673	166201587	44	73737											
MRPS36	92259	broad.mit.edu	37	chr5	68513672	68513672	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtcatgatgggcagcaagAtggcgtctgctagtagggtc	17	7	2	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr5:68513672A>G	uc003jvq.2	+	1	100	c.16A>G	c.(16-18)ATG>GTG	p.M6V	MRPS36_uc003jvr.2_RNA	NM_033281	NP_150597	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	6					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome				0		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		GGGCAGCAAGATGGCGTCTGC	0.647													G	68513672	A	G	68513672	3	3	108	1	0	0	0	0	1	0	0	0	9845	333	12	3	18	3	MRPS36	5	68513672	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	53799999	68513672	112401588	45	73738											
AQPEP	206338	broad.mit.edu	37	chr5	115335576	115335576	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagtgaaatacaggaactcTttgacatatttacttacagc	6	8	1	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr5:115335576T>G	uc003kro.2	+	7	1656	c.1492T>G	c.(1492-1494)TTT>GTT	p.F498V	AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	498	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						ACAGGAACTCTTTGACATATT	0.363													G	115335576	T	G	115335576	3	3	108	1	0	0	0	0	1	0	0	0	834	1609	56	5	1518	5	AQPEP	5	115335576	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	46821904	115335576	65579684	46	73739											
DMXL1	1657	broad.mit.edu	37	chr5	118484481	118484481	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatgcagtgctccttatTtattggcaacttcatgttca	7	10	2	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr5:118484481T>G	uc003ksd.2	+	18	3140	c.2959T>G	c.(2959-2961)TTA>GTA	p.L987V	DMXL1_uc010jcl.1_Missense_Mutation_p.L987V	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	987	WD 8.									ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TGCTCCTTATTTATTGGCAAC	0.348													G	118484481	T	G	118484481	3	3	108	1	0	0	0	0	1	0	0	0	4594	1838	64	5	3029	5	DMXL1	5	118484481	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	3148905	118484481	62430779	47	73740											
CDC25C	995	broad.mit.edu	37	chr5	137622934	137622934	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcaatcagaccctggaacTtccccgacagtaaggcagcc	8	15	2	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr5:137622934T>G	uc003lcp.1	-	11	1221	c.950A>C	c.(949-951)AAG>ACG	p.K317T	CDC25C_uc003lcq.1_Missense_Mutation_p.K244T|CDC25C_uc003lcr.1_Missense_Mutation_p.K317T|CDC25C_uc011cyp.1_Missense_Mutation_p.K334T|CDC25C_uc003lcs.1_Missense_Mutation_p.K395T	NM_001790	NP_001781	P30307	MPIP3_HUMAN	cell division cycle 25C isoform a	317					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			lung(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACCCTGGAACTTCCCCGACAG	0.473													G	137622934	T	G	137622934	3	3	108	1	0	0	0	0	1	0	0	0	3064	1609	56	5	487	5	CDC25C	5	137622934	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	19138453	137622934	43292326	48	73741											
PCDHA9	9752	broad.mit.edu	37	chr5	140228037	140228037	+	Translation_Start_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagatgatttcttctaatTtggaggcaattttcactaat	6	6	4	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr5:140228037T>G	uc003lhu.2	+	1	681	c.-43T>G	c.(-45--41)ATTTG>ATGTG		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Translation_Start_Site	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTTCTAATTTGGAGGCAAT	0.433													G	140228037	T	G	140228037	1	3	108	1	0	0	0	0	0	0	0	0	11531	1856	64	5		5	PCDHA9	5	140228037	Translation_Start_Site	SNP	T	TCGA-BR-8687-01A-11D-2394-08	2605103	140228037	40687223	49	73742											
PCDHA10	56139	broad.mit.edu	37	chr5	140236750	140236750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcattgccctaatcagcGtttctgaccatgattcagga	8	12	4	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr5:140236750G>A	uc003lhx.2	+	1	1117	c.1117G>A	c.(1117-1119)GTT>ATT	p.V373I	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.V373I|PCDHA10_uc011dad.1_Missense_Mutation_p.V373I	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	373	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTAATCAGCGTTTCTGACCA	0.483													A	140236750	G	A	140236750	3	1	108	1	0	0	0	0	1	0	0	0	11520	1145	40	1	1119	1	PCDHA10	5	140236750	Missense_Mutation	SNP	G	TCGA-BR-8687-01A-11D-2394-08	8713	140236750	40678510	50	73743											
PCDHB5	26167	broad.mit.edu	37	chr5	140516360	140516360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtcaatgacaacgccccCgccttcacccaaacctccta	5	19	2	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr5:140516360C>T	uc003liq.2	+	1	1561	c.1344C>T	c.(1342-1344)CCC>CCT	p.P448P		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	448	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAACGCCCCCGCCTTCACCC	0.582													T	140516360	C	T	140516360	2	4	108	1	0	0	0	0	0	0	0	1	11545	639	23	1		1	PCDHB5	5	140516360	Silent	SNP	C	TCGA-BR-8687-01A-11D-2394-08	279610	140516360	40398900	51	73744											
BTNL8	79908	broad.mit.edu	37	chr5	180374616	180374616	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgaagattttcttctccAaattccagtgtaagcgagag	9	8	2	3			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr5:180374616A>G	uc003mmp.2	+	4	1012	c.778A>G	c.(778-780)AAA>GAA	p.K260E	BTNL8_uc003mmq.2_Missense_Mutation_p.K260E|BTNL8_uc011dhg.1_Missense_Mutation_p.K135E|BTNL8_uc010jll.2_Missense_Mutation_p.K260E|BTNL8_uc010jlm.2_Missense_Mutation_p.K144E|BTNL8_uc011dhh.1_Missense_Mutation_p.K76E	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8 isoform 2 precursor	260	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|skin(1)	2	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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTTCTTCTCCAAATTCCAGTG	0.488													G	180374616	A	G	180374616	3	3	108	1	0	0	0	0	1	0	0	0	1567	131	5	3	818	3	BTNL8	5	180374616	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	39858256	180374616	540644	52	73745			1	34		5	5	2826	N	A	4.638092e-09
BTNL8	79908	broad.mit.edu	37	chr5	180375359	180375359	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtttctgtttcagggaaAatccaggcggaactgggtaa	12	7	2	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr5:180375359A>C	uc003mmp.2	+	5	1026	c.792A>C	c.(790-792)AAA>AAC	p.K264N	BTNL8_uc003mmq.2_Missense_Mutation_p.N308H|BTNL8_uc011dhg.1_Missense_Mutation_p.K139N|BTNL8_uc010jll.2_Intron|BTNL8_uc010jlm.2_Missense_Mutation_p.K148N|BTNL8_uc011dhh.1_Missense_Mutation_p.K80N	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8 isoform 2 precursor	264	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|skin(1)	2	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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTTCAGGGAAAATCCAGGCGG	0.552													C	180375359	A	C	180375359	3	2	108	1	0	0	0	0	1	0	0	0	1567	14	1	5	966	5	BTNL8	5	180375359	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	743	180375359	539901	53	73746			1	34		5	5	2826	N	A	4.638092e-09
BTNL8	79908	broad.mit.edu	37	chr5	180377026	180377026	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagagatttacaaggaagAgtgtggtggcttctcagagt	14	4	1	4			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr5:180377026A>G	uc003mmp.2	+	8	1219	c.985A>G	c.(985-987)AGT>GGT	p.S329G	BTNL8_uc003mmq.2_3'UTR|BTNL8_uc011dhg.1_Missense_Mutation_p.S204G|BTNL8_uc010jll.2_3'UTR|BTNL8_uc010jlm.2_Missense_Mutation_p.S213G|BTNL8_uc011dhh.1_Missense_Mutation_p.S145G	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8 isoform 2 precursor	329	B30.2/SPRY.|Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|skin(1)	2	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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACAAGGAAGAGTGTGGTGGC	0.522													G	180377026	A	G	180377026	3	3	108	1	0	0	0	0	1	0	0	0	1567	304	11	3	1171	3	BTNL8	5	180377026	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	1667	180377026	538234	54	73747			1	34		5	5	2826	N	A	4.638092e-09
BTNL8	79908	broad.mit.edu	37	chr5	180377398	180377398	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atccgtcctataatgagcaaAatggaactcccatagtcatc	6	11	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr5:180377398A>C	uc003mmp.2	+	8	1591	c.1357A>C	c.(1357-1359)AAT>CAT	p.N453H	BTNL8_uc003mmq.2_3'UTR|BTNL8_uc011dhg.1_Missense_Mutation_p.N328H|BTNL8_uc010jll.2_3'UTR|BTNL8_uc010jlm.2_Missense_Mutation_p.N337H|BTNL8_uc011dhh.1_Missense_Mutation_p.N269H	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8 isoform 2 precursor	453	B30.2/SPRY.|Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|skin(1)	2	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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAATGAGCAAAATGGAACTCC	0.468													C	180377398	A	C	180377398	3	2	108	1	0	0	0	0	1	0	0	0	1567	14	1	5	1543	5	BTNL8	5	180377398	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	372	180377398	537862	55	73748			1	34		5	5	2826	N	A	4.638092e-09
BTNL8	79908	broad.mit.edu	37	chr5	180377441	180377441	+	Frame_Shift_Del	DEL	A	A	-													cccagtcacccaggaatcagAgaaagaggcctcttggcaaa							TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr5:180377440_180377440GA>G	uc003mmp.3	+	7	1633	c.1399_1399GA>G	c.(1399-1401)gagfs	p.E467fs	BTNL8_uc003mmq.3_3'UTR|BTNL8_uc010jll.3_3'UTR|BTNL8_uc011dhg.2_Frame_Shift_Del_p.E342fs|BTNL8_uc010jlm.3_Frame_Shift_Del_p.E351fs|BTNL8_uc011dhh.2_Frame_Shift_Del_p.E283fs	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	467						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGAATCAGAGAAAGAGGC	0.517													-	180377441	A	-	180377441	7	5	108	1	0	1	0	1	0	0	0	0	1567	304	11	0	1586	0	BTNL8	5	180377441	Frame_Shift_Del	DEL	A	TCGA-BR-8687-01A-11D-2394-08	43	180377441	537819	56	73749			1	34		5	5	2826	N	A	4.638092e-09
OR14J1	442191	broad.mit.edu	37	chr6	29274938	29274938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctctctgggctcatgcatGctgccattaacttctccata	7	14	3	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr6:29274938G>A	uc011dln.1	+	1	472	c.472G>A	c.(472-474)GCT>ACT	p.A158T		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GCTCATGCATGCTGCCATTAA	0.473													A	29274938	G	A	29274938	3	1	108	1	0	0	0	0	1	0	0	0	10948	1319	46	2	474	2	OR14J1	6	29274938	Missense_Mutation	SNP	G	TCGA-BR-8687-01A-11D-2394-08		29274938	141840129	57	73750											
BTBD9	114781	broad.mit.edu	37	chr6	38561952	38561952	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttatgagccaggctcaaaaAgtccagcagcacctcctcct	7	14	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr6:38561952A>G	uc003ooa.3	-	4	913	c.337T>C	c.(337-339)TTT>CTT	p.F113L	BTBD9_uc003ony.3_Missense_Mutation_p.F45L|BTBD9_uc010jwv.2_Missense_Mutation_p.F45L|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.F113L	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9 isoform a	113					cell adhesion						0						AGGCTCAAAAAGTCCAGCAGC	0.453													G	38561952	A	G	38561952	3	3	108	1	0	0	0	0	1	0	0	0	1548	72	3	3	1628	3	BTBD9	6	38561952	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	9287014	38561952	132553115	58	73751											
HSP90AB1	3326	broad.mit.edu	37	chr6	44217547	44217547	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagtcttctgctggaggtTccttcactgtgcgtgctgac	14	10	3	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr6:44217547T>G	uc003oxa.1	+	4	574	c.490T>G	c.(490-492)TCC>GCC	p.S164A	HSP90AB1_uc011dvr.1_Missense_Mutation_p.S154A|HSP90AB1_uc003oxb.1_Missense_Mutation_p.S164A|HSP90AB1_uc011dvs.1_Intron|HSP90AB1_uc003oxc.1_5'Flank	NM_007355	NP_031381	P08238	HS90B_HUMAN	heat shock 90kDa protein 1, beta	164					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			lung(3)|breast(1)	4	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCTGGAGGTTCCTTCACTGT	0.458													G	44217547	T	G	44217547	3	3	108	1	0	0	0	0	1	0	0	0	7402	1783	62	5	500	5	HSP90AB1	6	44217547	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	5655595	44217547	126897520	59	73752											
C6orf138	442213	broad.mit.edu	37	chr6	47847079	47847079	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccatggcataggaaacacTtggcgaatcactggctagta	10	9	1	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr6:47847079T>C	uc011dwm.1	-	3	1535	c.1450A>G	c.(1450-1452)AGT>GGT	p.S484G	C6orf138_uc011dwn.1_Missense_Mutation_p.S248G	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	501						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1						TAGGAAACACTTGGCGAATCA	0.463													C	47847079	T	C	47847079	3	2	108	1	0	0	0	0	1	0	0	0	2332	1609	56	3	1043	3	C6orf138	6	47847079	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	3629532	47847079	123267988	60	73753											
PKHD1	5314	broad.mit.edu	37	chr6	51890809	51890809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccagacctccacggcagCtggaacagtgggagcgcccg	14	15	0	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr6:51890809C>T	uc003pah.1	-	32	4075	c.3799G>A	c.(3799-3801)GCT>ACT	p.A1267T	PKHD1_uc003pai.2_Missense_Mutation_p.A1267T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1267	Extracellular (Potential).|IPT/TIG 7.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TCCACGGCAGCTGGAACAGTG	0.592													T	51890809	C	T	51890809	3	4	108	1	0	0	0	0	1	0	0	0	11971	797	28	2	8608	2	PKHD1	6	51890809	Missense_Mutation	SNP	C	TCGA-BR-8687-01A-11D-2394-08	4043730	51890809	119224258	61	73754											
KIAA1586	57691	broad.mit.edu	37	chr6	56918933	56918933	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcaactgcattacagtcaAgatcaactaatattaagaaa	4	7	3	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr6:56918933A>G	uc003pdj.2	+	4	1806	c.1636A>G	c.(1636-1638)AGA>GGA	p.R546G	KIAA1586_uc011dxm.1_Missense_Mutation_p.R519G	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	hypothetical protein LOC57691	546							nucleic acid binding				0	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATTACAGTCAAGATCAACTAA	0.299													G	56918933	A	G	56918933	3	3	108	1	0	0	0	0	1	0	0	0	8245	64	3	3	1650	3	KIAA1586	6	56918933	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	5028124	56918933	114196134	62	73755											
BAI3	577	broad.mit.edu	37	chr6	69348663	69348663	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagacttctggtgttcaacTttggtgaagggagtcattta	11	6	3	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr6:69348663T>G	uc003pev.3	+	3	544	c.96T>G	c.(94-96)ACT>ACG	p.T32T	BAI3_uc010kak.2_Silent_p.T32T	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	32	CUB.|Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				GGTGTTCAACTTTGGTGAAGG	0.393													G	69348663	T	G	69348663	2	3	108	1	0	0	0	0	0	0	0	1	1300	1596	56	5		5	BAI3	6	69348663	Silent	SNP	T	TCGA-BR-8687-01A-11D-2394-08	12429730	69348663	101766404	63	73756											
COL12A1	1303	broad.mit.edu	37	chr6	75862083	75862083	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggggccaatgtcaaagacTtccacaatacgagaaatgaa	9	8	1	3			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr6:75862083T>C	uc003phs.2	-	18	3847	c.3681A>G	c.(3679-3681)GAA>GAG	p.E1227E	COL12A1_uc003pht.2_Silent_p.E63E	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1227	VWFA 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TGTCAAAGACTTCCACAATAC	0.443													C	75862083	T	C	75862083	2	2	108	1	0	0	0	0	0	0	0	1	3669	1606	56	3		3	COL12A1	6	75862083	Silent	SNP	T	TCGA-BR-8687-01A-11D-2394-08	6513420	75862083	95252984	64	73757											
ANKRD6	22881	broad.mit.edu	37	chr6	90326294	90326294	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctggagacacagcacTtcacgttgctgctgccctaa	10	14	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr6:90326294T>G	uc003pni.3	+	8	973	c.632T>G	c.(631-633)CTT>CGT	p.L211R	ANKRD6_uc003pne.3_Missense_Mutation_p.L211R|ANKRD6_uc003pnf.3_Missense_Mutation_p.L211R|ANKRD6_uc011dzy.1_Missense_Mutation_p.L211R|ANKRD6_uc010kcd.2_Missense_Mutation_p.L178R|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_5'UTR	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	211	ANK 7.						protein binding			ovary(2)|pancreas(1)	3		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GACACAGCACTTCACGTTGCT	0.488													G	90326294	T	G	90326294	3	3	108	1	0	0	0	0	1	0	0	0	685	1609	56	5	658	5	ANKRD6	6	90326294	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	14464211	90326294	80788773	65	73758											
RSPH4A	345895	broad.mit.edu	37	chr6	116948943	116948943	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagatgccgcttctggggaaAgatcttgggtctggaaatga	14	6	3	3			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr6:116948943A>T	uc003pxe.2	+	3	1218	c.1073A>T	c.(1072-1074)AAG>ATG	p.K358M	RSPH4A_uc010kee.2_Missense_Mutation_p.K358M	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A isoform 1	358					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke					0						TTCTGGGGAAAGATCTTGGGT	0.343									Kartagener_syndrome				T	116948943	A	T	116948943	3	4	108	1	0	0	0	0	1	0	0	0	13706	72	3	5	1083	5	RSPH4A	6	116948943	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	26622649	116948943	54166124	66	73759											
PEX3	8504	broad.mit.edu	37	chr6	143793448	143793448	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatgatgccagatgaagaaActccattagcagtgcaggtg	11	7	0	4			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr6:143793448A>G	uc003qjl.2	+	8	992	c.730A>G	c.(730-732)ACT>GCT	p.T244A	PEX3_uc011edx.1_Missense_Mutation_p.T244A	NM_003630	NP_003621	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	244	Cytoplasmic (Potential).				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		AGATGAAGAAACTCCATTAGC	0.328													G	143793448	A	G	143793448	3	3	108	1	0	0	0	0	1	0	0	0	11747	43	2	3	760	3	PEX3	6	143793448	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	26844505	143793448	27321619	67	73760											
HSPB1	3315	broad.mit.edu	37	chr7	75932122	75932122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagccgcctcttcgaccaGgccttcgggctgccccggct	11	18	1	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr7:75932122G>A	uc003uew.2	+	1	248	c.93G>A	c.(91-93)CAG>CAA	p.Q31Q	HSPB1_uc010ldj.1_5'Flank	NM_001540	NP_001531	P04792	HSPB1_HUMAN	heat shock protein beta-1	31					anti-apoptosis|cell death|cellular component movement|mRNA metabolic process|positive regulation of interleukin-1 beta production|positive regulation of tumor necrosis factor biosynthetic process|regulation of I-kappaB kinase/NF-kappaB cascade|regulation of translational initiation|response to heat|response to unfolded protein|response to virus	cell surface|cytosol|nucleus|proteasome complex|spindle	identical protein binding|protein kinase C delta binding|protein kinase C inhibitor activity|ubiquitin binding				0						TCTTCGACCAGGCCTTCGGGC	0.731													A	75932122	G	A	75932122	2	1	108	1	0	0	0	0	0	0	0	1	7418	991	35	4		4	HSPB1	7	75932122	Silent	SNP	G	TCGA-BR-8687-01A-11D-2394-08		75932122	83206541	68	73761											
ABCB1	5243	broad.mit.edu	37	chr7	87160630	87160630	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttcccagaaccttctagttCtttcttatctttcagtgctt	4	12	5	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr7:87160630C>A	uc003uiz.1	-	22	3083	c.2665G>T	c.(2665-2667)GAA>TAA	p.E889*	ABCB1_uc011khc.1_Nonsense_Mutation_p.E825*	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	889	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCTTCTAGTTCTTTCTTATCT	0.348													A	87160630	C	A	87160630	4	1	108	1	0	0	0	0	0	1	0	0	40	922	32	5	1209	5	ABCB1	7	87160630	Nonsense_Mutation	SNP	C	TCGA-BR-8687-01A-11D-2394-08	11228508	87160630	71978033	69	73762											
PIK3CG	5294	broad.mit.edu	37	chr7	106509364	106509364	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagtcccccagttctgAgtccaagggcaaagttcagc	11	12	2	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr7:106509364A>G	uc003vdv.3	+	2	1443	c.1358A>G	c.(1357-1359)GAG>GGG	p.E453G	PIK3CG_uc003vdu.2_Missense_Mutation_p.E453G|PIK3CG_uc003vdw.2_Missense_Mutation_p.E453G	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	453					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						CCCAGTTCTGAGTCCAAGGGC	0.537													G	106509364	A	G	106509364	3	3	108	1	0	0	0	0	1	0	0	0	11916	304	11	3	1360	3	PIK3CG	7	106509364	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	19348734	106509364	52629299	70	73763											
ZNF425	155054	broad.mit.edu	37	chr7	148801027	148801027	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggtactgttgagtgaaacTtttgccgcacatcacacaag	9	11	1	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr7:148801027T>G	uc003wfj.2	-	4	2009	c.1936A>C	c.(1936-1938)AGT>CGT	p.S646R		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	646	C2H2-type 16.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGAGTGAAACTTTTGCCGCAC	0.537													G	148801027	T	G	148801027	3	3	108	1	0	0	0	0	1	0	0	0	17896	1609	56	5	326	5	ZNF425	7	148801027	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	42291663	148801027	10337636	71	73764											
CNBD1	168975	broad.mit.edu	37	chr8	88365977	88365977	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaatcattaccaaaaaagaAgttgagatggcaatcattga	7	6	2	3	rs148357017	by1000genomes	TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr8:88365977A>G	uc003ydy.2	+	10	1314	c.1266A>G	c.(1264-1266)GAA>GAG	p.E422E		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	422	cNMP.									ovary(3)	3						CCAAAAAAGAAGTTGAGATGG	0.328													G	88365977	A	G	88365977	2	3	108	1	0	0	0	0	0	0	0	1	3591	69	3	3		3	CNBD1	8	88365977	Silent	SNP	A	TCGA-BR-8687-01A-11D-2394-08		88365977	57998045	72	73765											
RUNX1T1	862	broad.mit.edu	37	chr8	92998514	92998514	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttagtacggtgagagatcGccttgttttttctaccatgt	9	9	1	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr8:92998514G>A	uc003yfd.2	-	8	1201	c.1117C>T	c.(1117-1119)CGA>TGA	p.R373*	RUNX1T1_uc003yfc.1_Nonsense_Mutation_p.R346*|RUNX1T1_uc003yfe.1_Nonsense_Mutation_p.R336*|RUNX1T1_uc010mao.2_Nonsense_Mutation_p.R346*|RUNX1T1_uc011lgi.1_Nonsense_Mutation_p.R384*|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Nonsense_Mutation_p.R336*	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	373	Important for oligomerization.				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)			GTGAGAGATCGCCTTGTTTTT	0.433													A	92998514	G	A	92998514	4	1	108	1	0	0	0	0	0	1	0	0	13747	1095	38	1	713	1	RUNX1T1	8	92998514	Nonsense_Mutation	SNP	G	TCGA-BR-8687-01A-11D-2394-08	4632537	92998514	53365508	73	73766											
GSDMC	56169	broad.mit.edu	37	chr8	130760962	130760962	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgctccaggggtatctgaAgtttggctccaggatgctcc	12	10	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr8:130760962A>C	uc003ysr.2	-	14	2194	c.1312T>G	c.(1312-1314)TTC>GTC	p.F438V		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	melanoma-derived leucine zipper, extra-nuclear	438						mitochondrion				ovary(2)|skin(1)	3						GGGTATCTGAAGTTTGGCTCC	0.527													C	130760962	A	C	130760962	3	2	108	1	0	0	0	0	1	0	0	0	6818	72	3	5	218	5	GSDMC	8	130760962	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	37762448	130760962	15603060	74	73767											
FAM135B	51059	broad.mit.edu	37	chr8	139144979	139144979	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgttgtgtcggattaaagTgcagtccttggcttcaacca	10	10	1	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr8:139144979T>C	uc003yuy.2	-	20	4249	c.4078A>G	c.(4078-4080)ACT>GCT	p.T1360A	FAM135B_uc003yux.2_Missense_Mutation_p.T1261A|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1360										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CGGATTAAAGTGCAGTCCTTG	0.542										HNSCC(54;0.14)			C	139144979	T	C	139144979	3	2	108	1	0	0	0	0	1	0	0	0	5449	1696	59	3	146	3	FAM135B	8	139144979	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	8384017	139144979	7219043	75	73768											
IFNA17	3451	broad.mit.edu	37	chr9	21227998	21227998	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcctggggaagtccaaAgtcatgtctgtccttcaggc	10	13	3	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr9:21227998A>T	uc003zos.1	-	1	224	c.175T>A	c.(175-177)TTT>ATT	p.F59I	IFNA14_uc003zoo.1_Intron	NM_021268	NP_067091	P01571	IFN17_HUMAN	interferon, alpha 17 precursor	59					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding				0				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GGAAGTCCAAAGTCATGTCTG	0.512													T	21227998	A	T	21227998	3	4	108	1	0	0	0	0	1	0	0	0	7536	72	3	5	398	5	IFNA17	9	21227998	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08		21227998	119985433	76	73769											
GABBR2	9568	broad.mit.edu	37	chr9	101125010	101125010	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttacctccatgctgtacTtctccactgtccttcgcagg	8	15	1	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr9:101125010T>G	uc004ays.2	-	13	2036	c.1880A>C	c.(1879-1881)AAG>ACG	p.K627T		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	627	Extracellular (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CATGCTGTACTTCTCCACTGT	0.607													G	101125010	T	G	101125010	3	3	108	1	0	0	0	0	1	0	0	0	6156	1609	56	5	973	5	GABBR2	9	101125010	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	79897012	101125010	40088421	77	73770											
FKTN	2218	broad.mit.edu	37	chr9	108397526	108397526	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctatttctgagtgggatgAggttatccagttatattgag	12	5	1	3			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr9:108397526A>G	uc004bcr.2	+	11	1583	c.1367A>G	c.(1366-1368)GAG>GGG	p.E456G	FKTN_uc011lvx.1_Intron|FKTN_uc004bcs.2_Missense_Mutation_p.E456G|FKTN_uc011lvy.1_3'UTR|FKTN_uc010mtm.2_Missense_Mutation_p.E324G	NM_001079802	NP_001073270	O75072	FKTN_HUMAN	fukutin	456	Lumenal (Potential).				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(2)|ovary(1)	3						GAGTGGGATGAGGTTATCCAG	0.393													G	108397526	A	G	108397526	3	3	108	1	0	0	0	0	1	0	0	0	5919	304	11	3	1401	3	FKTN	9	108397526	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	7272516	108397526	32815905	78	73771											
TNFSF8	944	broad.mit.edu	37	chr9	117692483	117692483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatagaaatagctgcggctcGtggtccccaggtggctggcc	14	11	0	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr9:117692483G>A	uc004bji.1	-	1	288	c.101C>T	c.(100-102)ACG>ATG	p.T34M		NM_001244	NP_001235	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily,	34	Cytoplasmic (Potential).				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			lung(3)|skin(2)|ovary(1)	6						GCTGCGGCTCGTGGTCCCCAG	0.597													A	117692483	G	A	117692483	3	1	108	1	0	0	0	0	1	0	0	0	16308	1145	40	1	619	1	TNFSF8	9	117692483	Missense_Mutation	SNP	G	TCGA-BR-8687-01A-11D-2394-08	9294957	117692483	23520948	79	73772											
CERCAM	51148	broad.mit.edu	37	chr9	131196814	131196814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctggcgggtgcccgcaAgctgctggcctcacagcctc	14	16	2	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr9:131196814A>G	uc004buz.3	+	11	1855	c.1457A>G	c.(1456-1458)AAG>AGG	p.K486R	CERCAM_uc004buy.1_Missense_Mutation_p.K408R|CERCAM_uc010mxz.2_Missense_Mutation_p.K408R|CERCAM_uc010mya.1_Missense_Mutation_p.K327R	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule 1	486					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				pancreas(1)	1						GGTGCCCGCAAGCTGCTGGCC	0.687													G	131196814	A	G	131196814	3	3	108	1	0	0	0	0	1	0	0	0	3266	72	3	3	1499	3	CERCAM	9	131196814	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	13504331	131196814	10016617	80	73773											
KIAA0649	9858	broad.mit.edu	37	chr9	138377178	138377178	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagagccgcctacaaaggtGgtgcatcggcagggcctgct	14	12	0	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr9:138377178G>A	uc004cfr.1	+	4	1371	c.822G>A	c.(820-822)GTG>GTA	p.V274V		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	274						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		CTACAAAGGTGGTGCATCGGC	0.542													A	138377178	G	A	138377178	2	1	108	1	0	0	0	0	0	0	0	1	8187	1335	47	4		4	KIAA0649	9	138377178	Silent	SNP	G	TCGA-BR-8687-01A-11D-2394-08	7180364	138377178	2836253	81	73774											
C10orf18	54906	broad.mit.edu	37	chr10	5784428	5784428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacagaaaaaaacttttgCaagagagtgtgatccagaca	9	6	0	5			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr10:5784428C>T	uc001iij.2	+	14	3321	c.2696C>T	c.(2695-2697)GCA>GTA	p.A899V	C10orf18_uc001iik.2_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	899										ovary(1)|central_nervous_system(1)	2						AAAACTTTTGCAAGAGAGTGT	0.378													T	5784428	C	T	5784428	3	4	108	1	0	0	0	0	1	0	0	0	1596	710	25	2	2738	2	C10orf18	10	5784428	Missense_Mutation	SNP	C	TCGA-BR-8687-01A-11D-2394-08		5784428	129750319	82	73775											
GATA3	2625	broad.mit.edu	37	chr10	8115913	8115913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacatgctgaccacgcccaCgccgatgcacccgccatcca	7	21	0	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr10:8115913C>T	uc001ika.2	+	6	1816	c.1259C>T	c.(1258-1260)ACG>ATG	p.T420M	GATA3_uc001ijz.2_Missense_Mutation_p.T421M	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	420					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22						ACCACGCCCACGCCGATGCAC	0.637			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						T	8115913	C	T	8115913	3	4	108	1	0	0	0	0	1	0	0	0	6255	536	19	1	1280	1	GATA3	10	8115913	Missense_Mutation	SNP	C	TCGA-BR-8687-01A-11D-2394-08	2331485	8115913	127418834	83	73776											
KIAA1217	56243	broad.mit.edu	37	chr10	24784102	24784102	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgatgaaaaccacagccaAcaggaaccacacagatagtg	8	10	0	3			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr10:24784102A>G	uc001iru.3	+	8	2214	c.1811A>G	c.(1810-1812)AAC>AGC	p.N604S	KIAA1217_uc001irs.2_Missense_Mutation_p.N524S|KIAA1217_uc001irt.3_Missense_Mutation_p.N569S|KIAA1217_uc010qcy.1_Missense_Mutation_p.N569S|KIAA1217_uc010qcz.1_Missense_Mutation_p.N569S|KIAA1217_uc001irv.1_Missense_Mutation_p.N419S|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Missense_Mutation_p.N287S|KIAA1217_uc001irz.2_Missense_Mutation_p.N287S|KIAA1217_uc001irx.2_Missense_Mutation_p.N287S|KIAA1217_uc001iry.2_Missense_Mutation_p.N287S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	604					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						ACCACAGCCAACAGGAACCAC	0.428													G	24784102	A	G	24784102	3	3	108	1	0	0	0	0	1	0	0	0	8216	43	2	3	1841	3	KIAA1217	10	24784102	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	16668189	24784102	110750645	84	73777											
MYO3A	53904	broad.mit.edu	37	chr10	26482150	26482150	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataggtgtctgtaaaggagaGgagccaaaaatattgagacc	12	5	1	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr10:26482150G>T	uc001isn.2	+	32	4815	c.4455G>T	c.(4453-4455)GAG>GAT	p.E1485D	MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1485					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						GTAAAGGAGAGGAGCCAAAAA	0.348													T	26482150	G	T	26482150	3	4	108	1	0	0	0	0	1	0	0	0	10076	991	35	5	4573	5	MYO3A	10	26482150	Missense_Mutation	SNP	G	TCGA-BR-8687-01A-11D-2394-08	1698048	26482150	109052597	85	73778											
PCDH15	65217	broad.mit.edu	37	chr10	55912869	55912869	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atataaattaccttcgctctGcaggaggagcattatccgct	8	10	1	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr10:55912869G>T	uc001jju.1	-	14	2170	c.1775C>A	c.(1774-1776)GCA>GAA	p.A592E	PCDH15_uc010qhq.1_Missense_Mutation_p.A597E|PCDH15_uc010qhr.1_Missense_Mutation_p.A592E|PCDH15_uc010qhs.1_Missense_Mutation_p.A604E|PCDH15_uc010qht.1_Missense_Mutation_p.A599E|PCDH15_uc010qhu.1_Missense_Mutation_p.A592E|PCDH15_uc001jjv.1_Missense_Mutation_p.A570E|PCDH15_uc010qhv.1_Missense_Mutation_p.A592E|PCDH15_uc010qhw.1_Missense_Mutation_p.A555E|PCDH15_uc010qhx.1_Missense_Mutation_p.A592E|PCDH15_uc010qhy.1_Missense_Mutation_p.A597E|PCDH15_uc010qhz.1_Missense_Mutation_p.A592E|PCDH15_uc010qia.1_Missense_Mutation_p.A570E|PCDH15_uc010qib.1_Missense_Mutation_p.A570E|PCDH15_uc001jjw.2_Missense_Mutation_p.A592E	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	592	Cadherin 5.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CCTTCGCTCTGCAGGAGGAGC	0.458										HNSCC(58;0.16)			T	55912869	G	T	55912869	3	4	108	1	0	0	0	0	1	0	0	0	11511	1319	46	5	5791	5	PCDH15	10	55912869	Missense_Mutation	SNP	G	TCGA-BR-8687-01A-11D-2394-08	29430719	55912869	79621878	86	73779											
JMJD1C	221037	broad.mit.edu	37	chr10	64958329	64958329	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgttactaattgacagaacTtatcacctattatatccaag	4	8	1	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr10:64958329T>G	uc001jmn.2	-	12	5735	c.5435A>C	c.(5434-5436)AAG>ACG	p.K1812T	JMJD1C_uc001jml.2_Missense_Mutation_p.K1593T|JMJD1C_uc001jmm.2_Missense_Mutation_p.K1524T|JMJD1C_uc010qiq.1_Missense_Mutation_p.K1630T|JMJD1C_uc009xpi.2_Missense_Mutation_p.K1630T|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Intron	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1812					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTGACAGAACTTATCACCTAT	0.303													G	64958329	T	G	64958329	3	3	108	1	0	0	0	0	1	0	0	0	7950	1609	56	5	2247	5	JMJD1C	10	64958329	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	9045460	64958329	70576418	87	73780											
NOC3L	64318	broad.mit.edu	37	chr10	96104172	96104172	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaacctacacagcccttacTtggcaagaccttctagaact	5	14	2	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr10:96104172T>G	uc001kjq.1	-	13	1659	c.1571A>C	c.(1570-1572)AAG>ACG	p.K524T		NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog	524						nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)				CAGCCCTTACTTGGCAAGACC	0.423													G	96104172	T	G	96104172	3	3	108	1	0	0	0	0	1	0	0	0	10514	1623	56	5	867	5	NOC3L	10	96104172	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	31145843	96104172	39430575	88	73781											
ZNF518A	9849	broad.mit.edu	37	chr10	97918065	97918065	+	Frame_Shift_Del	DEL	C	C	-													ggaacagcagtgtatgaaaaCcctcaaagagaatcttcatc							TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr10:97918064_97918064AC>A	uc001klp.3	+	5	2842	c.1985_1985AC>A	c.(1984-1986)aacfs	p.N662fs	ZNF518A_uc001klo.1_Frame_Shift_Del_p.N132fs|ZNF518A_uc001klq.3_Frame_Shift_Del_p.N662fs|ZNF518A_uc001klr.3_Frame_Shift_Del_p.N662fs	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GTGTATGAAAACCCTCAAAGA	0.373													-	97918065	C	-	97918065	7	5	108	1	0	1	0	1	0	0	0	0	17959	506	18	0	1988	0	ZNF518A	10	97918065	Frame_Shift_Del	DEL	C	TCGA-BR-8687-01A-11D-2394-08	1813893	97918065	37616682	89	73782											
C10orf12	26148	broad.mit.edu	37	chr10	98744030	98744030	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgatcaagtggagccagaAgatggcagtgatgtcagccc	13	10	2	4			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr10:98744030A>G	uc001kmv.2	+	1	2990	c.2883A>G	c.(2881-2883)GAA>GAG	p.E961E		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	961										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGGAGCCAGAAGATGGCAGTG	0.478													G	98744030	A	G	98744030	2	3	108	1	0	0	0	0	0	0	0	1	1589	69	3	3		3	C10orf12	10	98744030	Silent	SNP	A	TCGA-BR-8687-01A-11D-2394-08	825965	98744030	36790717	90	73783											
ARHGAP19	84986	broad.mit.edu	37	chr10	99003882	99003882	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actttgccagctgaaaggacTtagtatgacatgaagctatg	10	7	0	3			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr10:99003882T>G	uc001knb.2	-	8	1057	c.1028A>C	c.(1027-1029)AAG>ACG	p.K343T	ARHGAP19_uc001kmy.2_RNA|ARHGAP19_uc001kna.2_Missense_Mutation_p.K334T|ARHGAP19_uc009xvi.2_RNA|ARHGAP19_uc009xvj.2_Missense_Mutation_p.K314T|ARHGAP19_uc009xvk.2_Missense_Mutation_p.K137T	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	343					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity				0		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		CTGAAAGGACTTAGTATGACA	0.448													G	99003882	T	G	99003882	3	3	108	1	0	0	0	0	1	0	0	0	869	1609	56	5	476	5	ARHGAP19	10	99003882	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	259852	99003882	36530865	91	73784											
TUBGCP2	10844	broad.mit.edu	37	chr10	135099058	135099058	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggggtcggcgtgcgccatCgccttctcctgcttggtctc	14	14	2	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr10:135099058C>T	uc001lmg.1	-	12	2154	c.1797G>A	c.(1795-1797)GCG>GCA	p.A599A	TUBGCP2_uc001lmf.1_Silent_p.A192A|TUBGCP2_uc010qvc.1_Silent_p.A627A|TUBGCP2_uc009ybk.1_Intron|TUBGCP2_uc010qvd.1_Silent_p.A469A|TUBGCP2_uc001lmh.1_RNA	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	599					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CGTGCGCCATCGCCTTCTCCT	0.587													T	135099058	C	T	135099058	2	4	108	1	0	0	0	0	0	0	0	1	16763	871	31	1		1	TUBGCP2	10	135099058	Silent	SNP	C	TCGA-BR-8687-01A-11D-2394-08	36095176	135099058	435689	92	73785											
OR2D2	120776	broad.mit.edu	37	chr11	6912920	6912920	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttgcatagaaaacagacaccGatttttcctgctgtttggaa	8	8	0	2	rs113111396		TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr11:6912920G>C	uc010rau.1	-	1	812	c.812C>G	c.(811-813)TCG>TGG	p.S271W		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D,	271	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AACAGACACCGATTTTTCCTG	0.438													C	6912920	G	C	6912920	3	2	108	1	0	0	0	0	1	0	0	0	10994	1059	37	5	117	5	OR2D2	11	6912920	Missense_Mutation	SNP	G	TCGA-BR-8687-01A-11D-2394-08		6912920	128093596	93	73786											
CTR9	9646	broad.mit.edu	37	chr11	10776559	10776559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaaaattgttggaagcaGcacgtatagatggcaatttg	11	4	0	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr11:10776559G>A	uc001mja.2	+	3	348	c.199G>A	c.(199-201)GCA>ACA	p.A67T		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	67	TPR 1.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTTGGAAGCAGCACGTATAGA	0.348													A	10776559	G	A	10776559	3	1	108	1	0	0	0	0	1	0	0	0	4024	971	34	2	209	2	CTR9	11	10776559	Missense_Mutation	SNP	G	TCGA-BR-8687-01A-11D-2394-08	3863639	10776559	124229957	94	73787											
MPPED2	744	broad.mit.edu	37	chr11	30557717	30557717	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtcatatgggatggggTcgaccctaaagtagacataa	13	6	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr11:30557717T>C	uc001msr.2	-	2	254	c.134A>G	c.(133-135)GAC>GGC	p.D45G	MPPED2_uc001msq.3_Missense_Mutation_p.D45G|MPPED2_uc009yji.2_5'UTR	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	45					nervous system development		hydrolase activity|metal ion binding			skin(1)	1						TGGGATGGGGTCGACCCTAAA	0.438													C	30557717	T	C	30557717	3	2	108	1	0	0	0	0	1	0	0	0	9742	1667	58	3	842	3	MPPED2	11	30557717	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	19781158	30557717	104448799	95	73788											
LDLRAD3	143458	broad.mit.edu	37	chr11	36250770	36250770	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacacggaatctctgaaccaAgccgacctgcccccctaccg	8	18	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr11:36250770A>G	uc001mwk.1	+	6	898	c.861A>G	c.(859-861)CAA>CAG	p.Q287Q	LDLRAD3_uc010rey.1_Silent_p.Q238Q|LDLRAD3_uc010rez.1_Silent_p.Q166Q|LDLRAD3_uc010rfa.1_RNA	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain	287	Cytoplasmic (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CTCTGAACCAAGCCGACCTGC	0.652													G	36250770	A	G	36250770	2	3	108	1	0	0	0	0	0	0	0	1	8707	69	3	3		3	LDLRAD3	11	36250770	Silent	SNP	A	TCGA-BR-8687-01A-11D-2394-08	5693053	36250770	98755746	96	73789											
RAG1	5896	broad.mit.edu	37	chr11	36595301	36595301	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaaggaaaagagagctacTtcctggccggacctcattgc	11	10	1	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr11:36595301T>G	uc001mwu.3	+	2	571	c.447T>G	c.(445-447)ACT>ACG	p.T149T	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	149	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				AGAGAGCTACTTCCTGGCCGG	0.488									Familial_Hemophagocytic_Lymphohistiocytosis				G	36595301	T	G	36595301	2	3	108	1	0	0	0	0	0	0	0	1	13003	1596	56	5		5	RAG1	11	36595301	Silent	SNP	T	TCGA-BR-8687-01A-11D-2394-08	344531	36595301	98411215	97	73790											
OR4A5	81318	broad.mit.edu	37	chr11	51412308	51412308	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaccaagtatgtgagtaAaaacatgacaaataatgctt	7	6	1	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr11:51412308A>C	uc001nhi.1	-	1	88	c.88T>G	c.(88-90)TTA>GTA	p.L30V		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				TATGTGAGTAAAAACATGACA	0.418													C	51412308	A	C	51412308	3	2	108	1	0	0	0	0	1	0	0	0	11043	11	1	5	863	5	OR4A5	11	51412308	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	14817007	51412308	83594208	98	73791											
OR4S2	219431	broad.mit.edu	37	chr11	55419250	55419250	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttatacactgagaaatgcaGaagtaaagaatgcaatgaag	9	4	0	4			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr11:55419250G>T	uc001nhs.1	+	1	871	c.871G>T	c.(871-873)GAA>TAA	p.E291*		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	291	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.0748)				GAGAAATGCAGAAGTAAAGAA	0.373													T	55419250	G	T	55419250	4	4	108	1	0	0	0	0	0	1	0	0	11083	943	33	5	873	5	OR4S2	11	55419250	Nonsense_Mutation	SNP	G	TCGA-BR-8687-01A-11D-2394-08	4006942	55419250	79587266	99	73792											
OR5D16	390144	broad.mit.edu	37	chr11	55606243	55606243	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaacatgtttctgacagagAgaaatacgacatctgaggcc	9	8	2	4			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr11:55606243A>G	uc010rio.1	+	1	16	c.16A>G	c.(16-18)AGA>GGA	p.R6G		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	6	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_epithelial(135;0.208)				TCTGACAGAGAGAAATACGAC	0.413													G	55606243	A	G	55606243	3	3	108	1	0	0	0	0	1	0	0	0	11156	296	11	3	18	3	OR5D16	11	55606243	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	186993	55606243	79400273	100	73793											
OR8J3	81168	broad.mit.edu	37	chr11	55905083	55905083	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggttccctgccatggTcagcacatagagcactagga	11	13	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr11:55905083T>A	uc010riz.1	-	1	112	c.112A>T	c.(112-114)ACC>TCC	p.T38S		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	38	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					CCTGCCATGGTCAGCACATAG	0.483													A	55905083	T	A	55905083	3	1	108	1	0	0	0	0	1	0	0	0	11242	1667	58	5	837	5	OR8J3	11	55905083	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	298840	55905083	79101433	101	73794											
OR5B3	441608	broad.mit.edu	37	chr11	58170447	58170447	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggaaaccacagaggtaggAgcctatggccagacgagcac	13	11	0	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr11:58170447A>G	uc010rkf.1	-	1	436	c.436T>C	c.(436-438)TCC>CCC	p.S146P		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B,	146	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CAGAGGTAGGAGCCTATGGCC	0.483													G	58170447	A	G	58170447	3	3	108	1	0	0	0	0	1	0	0	0	11152	304	11	3	510	3	OR5B3	11	58170447	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	2265364	58170447	76836069	102	73795											
BAD	572	broad.mit.edu	37	chr11	64037689	64037689	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggagcgaaggtcactgggAgggggcggagcttcccctgc	19	10	1	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr11:64037689A>G	uc001nzd.2	-	4	581	c.499T>C	c.(499-501)TCC>CCC	p.S167P	BAD_uc001nzc.2_Missense_Mutation_p.S167P|GPR137_uc009ypj.1_5'UTR	NM_032989	NP_116784	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	167					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)	1						GGTCACTGGGAGGGGGCGGAG	0.627													G	64037689	A	G	64037689	3	3	108	1	0	0	0	0	1	0	0	0	1285	304	11	3	11	3	BAD	11	64037689	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	5867242	64037689	70968827	103	73796											
CCDC88B	283234	broad.mit.edu	37	chr11	64112239	64112239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttgaggagaaaggctgaGgcccttggagatgagctgga	17	6	0	5			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr11:64112239G>A	uc001nzy.2	+	14	2270	c.2226G>A	c.(2224-2226)GAG>GAA	p.E742E	CCDC88B_uc009ypo.1_Silent_p.E739E|CCDC88B_uc001nzz.1_Silent_p.E391E	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88	742	Potential.				microtubule cytoskeleton organization	cytoplasm	microtubule binding			ovary(3)|skin(1)	4						GAAAGGCTGAGGCCCTTGGAG	0.662													A	64112239	G	A	64112239	2	1	108	1	0	0	0	0	0	0	0	1	2864	991	35	4		4	CCDC88B	11	64112239	Silent	SNP	G	TCGA-BR-8687-01A-11D-2394-08	74550	64112239	70894277	104	73797											
MED17	9440	broad.mit.edu	37	chr11	93542936	93542936	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcgccaaggttatgggctgGcaagtactgagcttcagtaa	12	9	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr11:93542936G>T	uc001pem.3	+	11	1913	c.1638G>T	c.(1636-1638)TGG>TGT	p.W546C		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	546					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTATGGGCTGGCAAGTACTGA	0.488													T	93542936	G	T	93542936	3	4	108	1	0	0	0	0	1	0	0	0	9435	1212	42	5	1680	5	MED17	11	93542936	Missense_Mutation	SNP	G	TCGA-BR-8687-01A-11D-2394-08	29430697	93542936	41463580	105	73798											
CNTN5	53942	broad.mit.edu	37	chr11	99944940	99944940	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgttaccaaagaccaagaAgttgtcatagagtgcaaacc	8	8	1	3			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr11:99944940A>C	uc001pga.2	+	13	1833	c.1494A>C	c.(1492-1494)GAA>GAC	p.E498D	CNTN5_uc009ywv.1_Missense_Mutation_p.E498D|CNTN5_uc001pfz.2_Missense_Mutation_p.E498D|CNTN5_uc001pgb.2_Missense_Mutation_p.E424D	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	498	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AAGACCAAGAAGTTGTCATAG	0.378													C	99944940	A	C	99944940	3	2	108	1	0	0	0	0	1	0	0	0	3644	69	3	5	1536	5	CNTN5	11	99944940	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	6402004	99944940	35061576	106	73799											
DYNC2H1	79659	broad.mit.edu	37	chr11	102984412	102984412	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttaccaagcagtacggcaAgtattcgcaccaatgttgtt	8	10	0	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr11:102984412A>C	uc001pho.2	+	2	486	c.342A>C	c.(340-342)CAA>CAC	p.Q114H	DYNC2H1_uc001phn.1_Missense_Mutation_p.Q114H|DYNC2H1_uc009yxe.1_Missense_Mutation_p.Q114H	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	114	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAGTACGGCAAGTATTCGCAC	0.318													C	102984412	A	C	102984412	3	2	108	1	0	0	0	0	1	0	0	0	4846	69	3	5	348	5	DYNC2H1	11	102984412	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	3039472	102984412	32022104	107	73800											
OR10S1	219873	broad.mit.edu	37	chr11	123848218	123848218	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgagagtcagagcccacagTtaggaggatgaggagattcc	15	7	1	4			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr11:123848218T>G	uc001pzm.1	-	1	181	c.181A>C	c.(181-183)ACT>CCT	p.T61P		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	61	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GAGCCCACAGTTAGGAGGATG	0.532													G	123848218	T	G	123848218	3	3	108	1	0	0	0	0	1	0	0	0	10918	1725	60	5	818	5	OR10S1	11	123848218	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	20863806	123848218	11158298	108	73801											
ADAMTS15	170689	broad.mit.edu	37	chr11	130341245	130341245	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggggagacaataagagctGcaagaaggtgactggactct	15	6	1	4			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr11:130341245G>T	uc010scd.1	+	7	2045	c.2045G>T	c.(2044-2046)TGC>TTC	p.C682F		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	682	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		AATAAGAGCTGCAAGAAGGTG	0.557													T	130341245	G	T	130341245	3	4	108	1	0	0	0	0	1	0	0	0	260	1319	46	5	2071	5	ADAMTS15	11	130341245	Missense_Mutation	SNP	G	TCGA-BR-8687-01A-11D-2394-08	6493027	130341245	4665271	109	73802											
NDUFA9	4704	broad.mit.edu	37	chr12	4796211	4796211	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgctgcggcgtcatcgCacttaccgctggctgtctgc	14	13	2	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr12:4796211C>T	uc001qnc.2	+	11	1081	c.1071C>T	c.(1069-1071)CGC>CGT	p.R357R	NDUFA9_uc010ses.1_Silent_p.R138R	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	357					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	GGCGTCATCGCACTTACCGCT	0.527													T	4796211	C	T	4796211	2	4	108	1	0	0	0	0	0	0	0	1	10272	697	25	2		2	NDUFA9	12	4796211	Silent	SNP	C	TCGA-BR-8687-01A-11D-2394-08		4796211	129055684	110	73803											
LRP6	4040	broad.mit.edu	37	chr12	12334066	12334066	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcccattgagccttgtcacTtctattcgatcagtgccagt	8	12	3	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr12:12334066T>G	uc001rah.3	-	6	1426	c.1284A>C	c.(1282-1284)GAA>GAC	p.E428D	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.E428D	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	428	Extracellular (Potential).|LDL-receptor class B 7.|Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12		Prostate(47;0.0865)				GCCTTGTCACTTCTATTCGAT	0.473													G	12334066	T	G	12334066	3	3	108	1	0	0	0	0	1	0	0	0	8962	1606	56	5	3629	5	LRP6	12	12334066	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	7537855	12334066	121517829	111	73804											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr12:25398285C>T	uc001rgp.1	-	2	215	c.34G>A	c.(34-36)GGT>AGT	p.G12S	KRAS_uc001rgq.1_Missense_Mutation_p.G12S|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25398285	C	T	25398285	3	4	108	1	0	0	0	0	1	0	0	0	8438	594	21	4	672	4	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-BR-8687-01A-11D-2394-08	13064219	25398285	108453610	112	73805											
SYT10	341359	broad.mit.edu	37	chr12	33559774	33559774	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtggcttccctggagagatCagagacttcaaacaaattat	9	8	2	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr12:33559774C>G	uc001rll.1	-	3	1324	c.1027G>C	c.(1027-1029)GAT>CAT	p.D343H	SYT10_uc009zju.1_Missense_Mutation_p.D153H	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	343	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTGGAGAGATCAGAGACTTCA	0.353													G	33559774	C	G	33559774	3	3	108	1	0	0	0	0	1	0	0	0	15463	826	29	5	564	5	SYT10	12	33559774	Missense_Mutation	SNP	C	TCGA-BR-8687-01A-11D-2394-08	8161489	33559774	100292121	113	73806											
AQP5	362	broad.mit.edu	37	chr12	50358929	50358929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggagcagcgggaagagcGgaagaagaccatggagctga	19	6	0	4	rs139421403	byFrequency	TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr12:50358929G>A	uc001rvo.2	+	4	1289	c.767G>A	c.(766-768)CGG>CAG	p.R256Q	AQP6_uc001rvp.1_5'Flank|AQP6_uc001rvq.1_5'Flank	NM_001651	NP_001642	P55064	AQP5_HUMAN	aquaporin 5	256	Cytoplasmic (Potential).				carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity				0						CGGGAAGAGCGGAAGAAGACC	0.592													A	50358929	G	A	50358929	3	1	108	1	0	0	0	0	1	0	0	0	829	1116	39	1	781	1	AQP5	12	50358929	Missense_Mutation	SNP	G	TCGA-BR-8687-01A-11D-2394-08	16799155	50358929	83492966	114	73807											
CDK2	1017	broad.mit.edu	37	chr12	56364997	56364997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattttagtaaagttgtacCtcccctggatgaagatggac	10	7	0	3			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr12:56364997C>T	uc001sit.3	+	6	995	c.758C>T	c.(757-759)CCT>CTT	p.P253L	CDK2_uc001siu.3_Missense_Mutation_p.P219L|CDK2_uc010spy.1_Missense_Mutation_p.P193L|RAB5B_uc001siv.2_5'Flank|RAB5B_uc001siw.2_5'Flank|RAB5B_uc009zog.2_5'Flank|RAB5B_uc010spz.1_5'Flank	NM_001798	NP_001789	P24941	CDK2_HUMAN	cyclin-dependent kinase 2 isoform 1	253	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding			stomach(1)|central_nervous_system(1)	2			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			AAAGTTGTACCTCCCCTGGAT	0.517													T	56364997	C	T	56364997	3	4	108	1	0	0	0	0	1	0	0	0	3136	681	24	4	780	4	CDK2	12	56364997	Missense_Mutation	SNP	C	TCGA-BR-8687-01A-11D-2394-08	6006068	56364997	77486898	115	73808											
LRP1	4035	broad.mit.edu	37	chr12	57578891	57578891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaacggctctatcaagcgCgggagcaaagacaatgccac	11	13	2	1	rs144748998		TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr12:57578891C>T	uc001snd.2	+	40	6832	c.6366C>T	c.(6364-6366)CGC>CGT	p.R2122R		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	2122	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTATCAAGCGCGGGAGCAAAG	0.592													T	57578891	C	T	57578891	2	4	108	1	0	0	0	0	0	0	0	1	8951	755	27	1		1	LRP1	12	57578891	Silent	SNP	C	TCGA-BR-8687-01A-11D-2394-08	1213894	57578891	76273004	116	73809											
XPOT	11260	broad.mit.edu	37	chr12	64814012	64814012	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttatgtctcttggatagacTtatcccttatagccaatgat	6	9	1	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr12:64814012T>G	uc001ssb.2	+	7	1078	c.652T>G	c.(652-654)TTA>GTA	p.L218V	XPOT_uc009zqm.1_Missense_Mutation_p.L128V	NM_007235	NP_009166	O43592	XPOT_HUMAN	tRNA exportin	218	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(28;0.0404)		TTGGATAGACTTATCCCTTAT	0.318													G	64814012	T	G	64814012	3	3	108	1	0	0	0	0	1	0	0	0	17447	1606	56	5	674	5	XPOT	12	64814012	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	7235121	64814012	69037883	117	73810											
NUP107	57122	broad.mit.edu	37	chr12	69127260	69127260	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcacgaagctgcaaaagaAgtatttgtgaaaattcctca	8	7	1	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr12:69127260A>C	uc001suf.2	+	24	2245	c.2130A>C	c.(2128-2130)GAA>GAC	p.E710D	NUP107_uc001sug.2_Missense_Mutation_p.E469D|NUP107_uc010stj.1_Missense_Mutation_p.E681D	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	710					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CTGCAAAAGAAGTATTTGTGA	0.373													C	69127260	A	C	69127260	3	2	108	1	0	0	0	0	1	0	0	0	10753	69	3	5	2224	5	NUP107	12	69127260	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	4313248	69127260	64724635	118	73811											
ACSS3	79611	broad.mit.edu	37	chr12	81472095	81472095	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgagtacaagacccacTtcgcagcctcggtgaccgac	11	15	0	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr12:81472095T>G	uc001szl.1	+	1	287	c.196T>G	c.(196-198)TTC>GTC	p.F66V	ACSS3_uc001szm.1_Missense_Mutation_p.F66V	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	66						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						CAAGACCCACTTCGCAGCCTC	0.662													G	81472095	T	G	81472095	3	3	108	1	0	0	0	0	1	0	0	0	190	1609	56	5	198	5	ACSS3	12	81472095	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	12344835	81472095	52379800	119	73812											
TMCC3	57458	broad.mit.edu	37	chr12	94972170	94972170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcacaaagggaaaggtacCtggatgtcccgcgagcgctc	12	11	1	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr12:94972170C>T	uc001tdj.2	-	3	1249	c.1131G>A	c.(1129-1131)CAG>CAA	p.Q377Q	TMCC3_uc001tdi.2_Silent_p.Q346Q	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	377	Potential.					integral to membrane				ovary(1)|skin(1)	2						GGAAAGGTACCTGGATGTCCC	0.532													T	94972170	C	T	94972170	2	4	108	1	0	0	0	0	0	0	0	1	15991	695	24	4		4	TMCC3	12	94972170	Silent	SNP	C	TCGA-BR-8687-01A-11D-2394-08	13500075	94972170	38879725	120	73813											
NBEA	26960	broad.mit.edu	37	chr13	36125129	36125129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagttgtctatagcttgcctCgggttggagtagggaccagc	14	8	1	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr13:36125129C>T	uc001uvb.2	+	43	6972	c.6766C>T	c.(6766-6768)CGG>TGG	p.R2256W	NBEA_uc010abi.2_Missense_Mutation_p.R912W|NBEA_uc010tee.1_Missense_Mutation_p.R49W|NBEA_uc010tef.1_Missense_Mutation_p.R49W|NBEA_uc010teg.1_Missense_Mutation_p.R49W	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2256						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAGCTTGCCTCGGGTTGGAGT	0.358													T	36125129	C	T	36125129	3	4	108	1	0	0	0	0	1	0	0	0	10187	875	31	1	6936	1	NBEA	13	36125129	Missense_Mutation	SNP	C	TCGA-BR-8687-01A-11D-2394-08		36125129	79044749	121	73814											
SPG20	23111	broad.mit.edu	37	chr13	36888425	36888425	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcgctatataaagtcccttGgtgacagctggactaacttc	8	10	0	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr13:36888425G>T	uc001uvn.2	-	7	1692	c.1422C>A	c.(1420-1422)ACC>ACA	p.T474T	SPG20_uc010ten.1_Silent_p.T464T|SPG20_uc001uvm.2_Silent_p.T474T|SPG20_uc001uvo.2_Silent_p.T474T|SPG20_uc001uvq.2_Silent_p.T474T	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	474					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		AAAGTCCCTTGGTGACAGCTG	0.423													T	36888425	G	T	36888425	2	4	108	1	0	0	0	0	0	0	0	1	15041	1335	47	5		5	SPG20	13	36888425	Silent	SNP	G	TCGA-BR-8687-01A-11D-2394-08	763296	36888425	78281453	122	73815											
OR4L1	122742	broad.mit.edu	37	chr14	20529098	20529098	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaatgcaagaggccataAgaaaattacggttccaatat	8	6	0	3			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr14:20529098A>C	uc001vwn.1	+	1	895	c.895A>C	c.(895-897)AGA>CGA	p.R299R		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGAGGCCATAAGAAAATTACG	0.323													C	20529098	A	C	20529098	2	2	108	1	0	0	0	0	0	0	0	1	11074	64	3	5		5	OR4L1	14	20529098	Silent	SNP	A	TCGA-BR-8687-01A-11D-2394-08		20529098	86820442	123	73816											
SALL2	6297	broad.mit.edu	37	chr14	21991766	21991766	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtgacagcattggtgaacTtcttctggcagatggggcag	15	7	2	3			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr14:21991766T>C	uc001wbe.2	-	2	2378	c.2096A>G	c.(2095-2097)AAG>AGG	p.K699R	SALL2_uc010tly.1_Missense_Mutation_p.K697R|SALL2_uc010tlz.1_Missense_Mutation_p.K562R|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.K564R|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	sal-like 2	699	C2H2-type 5.						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|large_intestine(1)	3	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		ATTGGTGAACTTCTTCTGGCA	0.602													C	21991766	T	C	21991766	3	2	108	1	0	0	0	0	1	0	0	0	13811	1609	56	3	931	3	SALL2	14	21991766	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	1462668	21991766	85357774	124	73817											
HECTD1	25831	broad.mit.edu	37	chr14	31637631	31637631	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcttcatctttgtttgtatCtttctttttcttatcatctc	2	9	8	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr14:31637631C>T	uc001wrc.1	-	10	1984	c.1495G>A	c.(1495-1497)GAT>AAT	p.D499N	HECTD1_uc001wrd.1_Missense_Mutation_p.D14N	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	499					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTGTTTGTATCTTTCTTTTTC	0.328													T	31637631	C	T	31637631	3	4	108	1	0	0	0	0	1	0	0	0	7039	913	32	4	6473	4	HECTD1	14	31637631	Missense_Mutation	SNP	C	TCGA-BR-8687-01A-11D-2394-08	9645865	31637631	75711909	125	73818											
FAM179B	23116	broad.mit.edu	37	chr14	45432035	45432035	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgacgcaaggaagctttgtaTcgggcactgggccgagtgct	15	10	0	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr14:45432035T>C	uc001wvv.2	+	1	620	c.411T>C	c.(409-411)TAT>TAC	p.Y137Y	FAM179B_uc001wvw.2_Silent_p.Y137Y|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Silent_p.Y137Y|FAM179B_uc001wvu.2_Silent_p.Y137Y	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	137							binding			skin(2)|upper_aerodigestive_tract(1)	3						AAGCTTTGTATCGGGCACTGG	0.637													C	45432035	T	C	45432035	2	2	108	1	0	0	0	0	0	0	0	1	5506	1442	50	3		3	FAM179B	14	45432035	Silent	SNP	T	TCGA-BR-8687-01A-11D-2394-08	13794404	45432035	61917505	126	73819											
PRKCH	5583	broad.mit.edu	37	chr14	61995851	61995851	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcactgtaaactggcagacTtcggaatgtgcaaggagggg	15	7	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr14:61995851T>G	uc001xfn.2	+	11	1797	c.1492T>G	c.(1492-1494)TTC>GTC	p.F498V	PRKCH_uc010tsa.1_Missense_Mutation_p.F337V|PRKCH_uc010tsb.1_Missense_Mutation_p.F66V	NM_006255	NP_006246	P24723	KPCL_HUMAN	protein kinase C, eta	498	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		ACTGGCAGACTTCGGAATGTG	0.527													G	61995851	T	G	61995851	3	3	108	1	0	0	0	0	1	0	0	0	12513	1609	56	5	1534	5	PRKCH	14	61995851	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	16563816	61995851	45353689	127	73820											
MAP3K9	4293	broad.mit.edu	37	chr14	71209259	71209259	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagttcctcctggttcTtctgctgcagtgcagcccgc	11	15	2	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr14:71209259T>G	uc001xmm.2	-	6	1376	c.1376A>C	c.(1375-1377)AAG>ACG	p.K459T	MAP3K9_uc010ttk.1_Missense_Mutation_p.K196T|MAP3K9_uc001xmk.2_Missense_Mutation_p.K153T|MAP3K9_uc001xml.2_Missense_Mutation_p.K459T	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	459					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CTCCTGGTTCTTCTGCTGCAG	0.607													G	71209259	T	G	71209259	3	3	108	1	0	0	0	0	1	0	0	0	9257	1609	56	5	2012	5	MAP3K9	14	71209259	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	9213408	71209259	36140281	128	73821											
C15orf55	256646	broad.mit.edu	37	chr15	34648354	34648354	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaaggctcttcaggagcCatgtggggagatgacagagg	18	6	2	3			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr15:34648354C>T	uc001zif.2	+	7	2216	c.2061C>T	c.(2059-2061)GCC>GCT	p.A687A	C15orf55_uc010ucc.1_Silent_p.A715A|C15orf55_uc010ucd.1_Silent_p.A705A	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	687						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CTTCAGGAGCCATGTGGGGAG	0.562			T	BRD3|BRD4	lethal midline carcinoma								T	34648354	C	T	34648354	2	4	108	1	0	0	0	0	0	0	0	1	1803	581	21	4		4	C15orf55	15	34648354	Silent	SNP	C	TCGA-BR-8687-01A-11D-2394-08		34648354	67883038	129	73822											
DNAJC17	55192	broad.mit.edu	37	chr15	41066576	41066576	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccttgacggttgcaaacTccaccacagcagtgcctggc	10	15	0	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr15:41066576T>C	uc001zms.1	-	9	670	c.659A>G	c.(658-660)GAG>GGG	p.E220G	DNAJC17_uc010bbz.1_RNA|DNAJC17_uc010bca.1_RNA|DNAJC17_uc010bcb.1_RNA	NM_018163	NP_060633	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	220	RRM.				protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding				0		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGTTGCAAACTCCACCACAGC	0.577													C	41066576	T	C	41066576	3	2	108	1	0	0	0	0	1	0	0	0	4636	1551	54	3	267	3	DNAJC17	15	41066576	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	6418222	41066576	61464816	130	73823											
UBR1	197131	broad.mit.edu	37	chr15	43308000	43308000	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagacatctgagccatgatcTtctggcgatgtagcctagca	10	11	3	3			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr15:43308000T>G	uc001zqq.2	-	29	3161	c.3095A>C	c.(3094-3096)AAG>ACG	p.K1032T	UBR1_uc010udk.1_Missense_Mutation_p.K1032T	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	1032					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGCCATGATCTTCTGGCGATG	0.363													G	43308000	T	G	43308000	3	3	108	1	0	0	0	0	1	0	0	0	16898	1609	56	5	2230	5	UBR1	15	43308000	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	2241424	43308000	59223392	131	73824											
SLC24A5	283652	broad.mit.edu	37	chr15	48434341	48434341	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggatcagctcctgcagaAgtaaacagcagaggactaac	10	9	1	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr15:48434341A>C	uc001zwe.2	+	9	1369	c.1296A>C	c.(1294-1296)GAA>GAC	p.E432D	SLC24A5_uc010bel.2_Missense_Mutation_p.E372D|MYEF2_uc001zwg.3_3'UTR|MYEF2_uc001zwh.3_3'UTR|MYEF2_uc001zwi.3_3'UTR|MYEF2_uc001zwj.3_3'UTR|SLC24A5_uc001zwk.2_Missense_Mutation_p.E63D	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN	solute carrier family 24, member 5 precursor	432	Cytoplasmic (Potential).				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity				0		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CTCCTGCAGAAGTAAACAGCA	0.358													C	48434341	A	C	48434341	3	2	108	1	0	0	0	0	1	0	0	0	14469	69	3	5	1330	5	SLC24A5	15	48434341	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	5126341	48434341	54097051	132	73825											
MYEF2	50804	broad.mit.edu	37	chr15	48435202	48435202	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgattctggggagtcaAatctgactgttccacagcct	10	11	3	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr15:48435202A>C	uc001zwi.3	-	17	1830	c.1706T>G	c.(1705-1707)TTT>TGT	p.F569C	MYEF2_uc001zwg.3_Missense_Mutation_p.F107C|MYEF2_uc001zwh.3_Missense_Mutation_p.F157C|MYEF2_uc001zwj.3_Missense_Mutation_p.F545C	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	569	RRM 3.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TGGGGAGTCAAATCTGACTGT	0.358													C	48435202	A	C	48435202	3	2	108	1	0	0	0	0	1	0	0	0	10024	14	1	5	100	5	MYEF2	15	48435202	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	861	48435202	54096190	133	73826											
MYO9A	4649	broad.mit.edu	37	chr15	72244202	72244202	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagctaaaactatccatacTtttcaaaattgcacatggcg	5	9	1	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr15:72244202T>G	uc002atl.3	-	15	2691	c.2218A>C	c.(2218-2220)AGT>CGT	p.S740R	MYO9A_uc010biq.2_Missense_Mutation_p.S335R|MYO9A_uc002atn.1_Missense_Mutation_p.S721R	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	740					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						CTATCCATACTTTTCAAAATT	0.348													G	72244202	T	G	72244202	3	3	108	1	0	0	0	0	1	0	0	0	10084	1609	56	5	5540	5	MYO9A	15	72244202	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	23809000	72244202	30287190	134	73827											
PKD1	5310	broad.mit.edu	37	chr16	2140438	2140438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagcccccagccgtagggCgccccacagccgcagtgccc	11	20	0	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr16:2140438C>T	uc002cos.1	-	45	12501	c.12292G>A	c.(12292-12294)GCC>ACC	p.A4098T	PKD1_uc002cot.1_Missense_Mutation_p.A4097T|MIR1225_hsa-mir-1225|MI0006311_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	4098	Helical; (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						AGCCGTAGGGCGCCCCACAGC	0.682													T	2140438	C	T	2140438	3	4	108	1	0	0	0	0	1	0	0	0	11963	768	27	1	627	1	PKD1	16	2140438	Missense_Mutation	SNP	C	TCGA-BR-8687-01A-11D-2394-08		2140438	88214315	135	73828											
PDILT	204474	broad.mit.edu	37	chr16	20371934	20371934	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgatgtggctttccaggaAgtcagagaagcccttcaggg	13	8	2	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr16:20371934A>G	uc002dhc.1	-	11	1685	c.1462T>C	c.(1462-1464)TTC>CTC	p.F488L		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	488					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1						CTTTCCAGGAAGTCAGAGAAG	0.478													G	20371934	A	G	20371934	3	3	108	1	0	0	0	0	1	0	0	0	11674	72	3	3	300	3	PDILT	16	20371934	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	18231496	20371934	69982819	136	73829											
ACSM2B	348158	broad.mit.edu	37	chr16	20566689	20566689	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagatgccactgtgtccacTtcttggatgacttcatcccc	7	14	3	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr16:20566689T>C	uc002dhj.3	-	5	708	c.498A>G	c.(496-498)GAA>GAG	p.E166E	ACSM2B_uc002dhk.3_Silent_p.E166E|ACSM2B_uc010bwf.1_Silent_p.E166E	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	166					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5						CTGTGTCCACTTCTTGGATGA	0.448													C	20566689	T	C	20566689	2	2	108	1	0	0	0	0	0	0	0	1	184	1606	56	3		3	ACSM2B	16	20566689	Silent	SNP	T	TCGA-BR-8687-01A-11D-2394-08	194755	20566689	69788064	137	73830											
ACSM1	116285	broad.mit.edu	37	chr16	20702409	20702409	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccatcttggggctccaaaTtctgataaagaccggcagcg	10	11	2	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr16:20702409T>G	uc002dhm.1	-	1	170	c.102A>C	c.(100-102)GAA>GAC	p.E34D	ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Missense_Mutation_p.E34D	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	34					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|skin(1)	2						GGGCTCCAAATTCTGATAAAG	0.498													G	20702409	T	G	20702409	3	3	108	1	0	0	0	0	1	0	0	0	182	1490	52	5	1683	5	ACSM1	16	20702409	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	135720	20702409	69652344	138	73831											
ACSM3	6296	broad.mit.edu	37	chr16	20808246	20808246	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgccaaagactatcagtggGaagacaaaaagaaatgaact	9	7	1	4			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr16:20808246G>A	uc002dhr.2	+	14	1900	c.1713G>A	c.(1711-1713)GGG>GGA	p.G571G	ERI2_uc002dht.3_3'UTR|ACSM3_uc010vba.1_Silent_p.G600G|ERI2_uc002dhs.2_Intron|ERI2_uc010vbb.1_3'UTR|ERI2_uc010bwh.2_3'UTR|ERI2_uc010vbc.1_3'UTR|ERI2_uc002dhu.1_3'UTR	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	SA hypertension-associated homolog isoform 1	571					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			ovary(1)	1						CTATCAGTGGGAAGACAAAAA	0.318													A	20808246	G	A	20808246	2	1	108	1	0	0	0	0	0	0	0	1	185	1161	41	4		4	ACSM3	16	20808246	Silent	SNP	G	TCGA-BR-8687-01A-11D-2394-08	105837	20808246	69546507	139	73832											
HEATR3	55027	broad.mit.edu	37	chr16	50106621	50106621	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgttgacctggctatttcAgtaggtaagtgaagaaaagg	12	4	1	3			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr16:50106621A>G	uc002efw.2	+	5	780	c.618A>G	c.(616-618)TCA>TCG	p.S206S	HEATR3_uc002efx.2_Silent_p.S120S	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	206							binding			ovary(1)|skin(1)	2						TGGCTATTTCAGTAGGTAAGT	0.358													G	50106621	A	G	50106621	2	3	108	1	0	0	0	0	0	0	0	1	7029	175	7	3		3	HEATR3	16	50106621	Silent	SNP	A	TCGA-BR-8687-01A-11D-2394-08	29298375	50106621	40248132	140	73833											
CHD9	80205	broad.mit.edu	37	chr16	53243432	53243432	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgatggttctgggacataTactaagttgcagaataccca	10	8	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr16:53243432T>C	uc002ehb.2	+	2	1655	c.1491T>C	c.(1489-1491)TAT>TAC	p.Y497Y	CHD9_uc002egy.2_Silent_p.Y497Y|CHD9_uc002egz.1_Silent_p.Y497Y|CHD9_uc002eha.1_Silent_p.Y497Y|CHD9_uc002ehc.2_Silent_p.Y497Y|CHD9_uc002ehd.2_Silent_p.Y23Y	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	497					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				CTGGGACATATACTAAGTTGC	0.363													C	53243432	T	C	53243432	2	2	108	1	0	0	0	0	0	0	0	1	3332	1413	49	3		3	CHD9	16	53243432	Silent	SNP	T	TCGA-BR-8687-01A-11D-2394-08	3136811	53243432	37111321	141	73834											
PLA2G15	23659	broad.mit.edu	37	chr16	68289889	68289889	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaccctgcgcgtcctggcTtcaggtaagaccctacctgg	11	14	1	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr16:68289889T>G	uc002evr.2	+	5	806	c.723T>G	c.(721-723)GCT>GCG	p.A241A	PLA2G15_uc010vld.1_Missense_Mutation_p.F200V|PLA2G15_uc010vle.1_Silent_p.A147A|PLA2G15_uc010vlf.1_Intron|PLA2G15_uc002evs.2_Silent_p.A62A	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	lysophospholipase 3 (lysosomal phospholipase A2)	241					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			ovary(1)	1						GCGTCCTGGCTTCAGGTAAGA	0.652													G	68289889	T	G	68289889	2	3	108	1	0	0	0	0	0	0	0	1	11992	1596	56	5		5	PLA2G15	16	68289889	Silent	SNP	T	TCGA-BR-8687-01A-11D-2394-08	15046457	68289889	22064864	142	73835											
HYDIN	54768	broad.mit.edu	37	chr16	70917971	70917971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgacctgctgtcctccGgaaggaatggagccaaaccc	11	12	0	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr16:70917971G>A	uc002ezr.2	-	59	9956	c.9828C>T	c.(9826-9828)TCC>TCT	p.S3276S		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3277										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				GCTGTCCTCCGGAAGGAATGG	0.587													A	70917971	G	A	70917971	2	1	108	1	0	0	0	0	0	0	0	1	7467	1103	39	1		1	HYDIN	16	70917971	Silent	SNP	G	TCGA-BR-8687-01A-11D-2394-08	2628082	70917971	19436782	143	73836											
TRPV3	162514	broad.mit.edu	37	chr17	3447882	3447882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcagacttacctggggctgTtgggattggatggggtctct	17	7	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr17:3447882T>C	uc002fvt.1	-	4	624	c.302A>G	c.(301-303)AAC>AGC	p.N101S	TRPV3_uc010vrh.1_Missense_Mutation_p.N85S|TRPV3_uc010vri.1_Intron|TRPV3_uc010vrj.1_Missense_Mutation_p.N85S|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.N85S|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.N101S|TRPV3_uc002fvu.2_Missense_Mutation_p.N101S	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	101	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	CCTGGGGCTGTTGGGATTGGA	0.617													C	3447882	T	C	3447882	3	2	108	1	0	0	0	0	1	0	0	0	16594	1725	60	3	2130	3	TRPV3	17	3447882	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08		3447882	77747328	144	73837											
PIK3R6	146850	broad.mit.edu	37	chr17	8731507	8731507	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacttctgggtctcccgtttCctagcaatgggcagcaaagc	10	12	2	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr17:8731507C>T	uc002glq.1	-	12	1554	c.1314G>A	c.(1312-1314)AGG>AGA	p.R438R	PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	438					platelet activation	cytosol					0						TCTCCCGTTTCCTAgcaatgg	0.328													T	8731507	C	T	8731507	2	4	108	1	0	0	0	0	0	0	0	1	11923	869	30	4		4	PIK3R6	17	8731507	Silent	SNP	C	TCGA-BR-8687-01A-11D-2394-08	5283625	8731507	72463703	145	73838											
GAS7	8522	broad.mit.edu	37	chr17	9837496	9837496	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggttaccttggcagagaacTtgaggtgaacttctgcttcg	13	8	1	3			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr17:9837496T>G	uc002gmg.1	-	9	1033	c.872A>C	c.(871-873)AAG>ACG	p.K291T	GAS7_uc010vvc.1_Missense_Mutation_p.K105T|GAS7_uc002gmh.1_Missense_Mutation_p.K151T|GAS7_uc010vvd.1_Missense_Mutation_p.K243T|GAS7_uc002gmi.2_Missense_Mutation_p.K227T|GAS7_uc002gmj.1_Missense_Mutation_p.K231T|GAS7_uc010coh.1_Missense_Mutation_p.K231T	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	291					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2						GGCAGAGAACTTGAGGTGAAC	0.428			T	MLL	AML*								G	9837496	T	G	9837496	3	3	108	1	0	0	0	0	1	0	0	0	6250	1609	56	5	582	5	GAS7	17	9837496	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	1105989	9837496	71357714	146	73839											
SUPT6H	6830	broad.mit.edu	37	chr17	27010097	27010097	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttaaatataacccccaccaAgaaaggtagaaaggtgagct	9	8	0	3			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr17:27010097A>G	uc002hby.2	+	15	1955	c.1865A>G	c.(1864-1866)AAG>AGG	p.K622R	SUPT6H_uc010crt.2_Missense_Mutation_p.K622R	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	622					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					ACCCCCACCAAGAAAGGTAGA	0.517													G	27010097	A	G	27010097	3	3	108	1	0	0	0	0	1	0	0	0	15397	72	3	3	1919	3	SUPT6H	17	27010097	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	17172601	27010097	54185113	147	73840											
SUPT6H	6830	broad.mit.edu	37	chr17	27014227	27014227	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagacatcctgtgtctcaAgtttcaccccttgcaggtga	9	11	2	3			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr17:27014227A>G	uc002hby.2	+	22	2912	c.2822A>G	c.(2821-2823)AAG>AGG	p.K941R	SUPT6H_uc010crt.2_Missense_Mutation_p.K941R|SUPT6H_uc002hbz.1_5'Flank	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	941					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					CTGTGTCTCAAGTTTCACCCC	0.562													G	27014227	A	G	27014227	3	3	108	1	0	0	0	0	1	0	0	0	15397	72	3	3	2904	3	SUPT6H	17	27014227	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	4130	27014227	54180983	148	73841											
PHF12	57649	broad.mit.edu	37	chr17	27240011	27240011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggttttcttggatttttcCgcacaagaactgcagccgat	11	9	1	1	rs147697011	byFrequency	TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr17:27240011C>T	uc002hdg.1	-	9	2108	c.1578G>A	c.(1576-1578)GCG>GCA	p.A526A	PHF12_uc010wbb.1_Silent_p.A508A|PHF12_uc002hdi.1_Silent_p.A522A|PHF12_uc002hdj.1_Silent_p.A526A|PHF12_uc010crw.1_Silent_p.A229A|PHF12_uc002hdh.1_Silent_p.A309A	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	526	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TGGATTTTTCCGCACAAGAAC	0.562													T	27240011	C	T	27240011	2	4	108	1	0	0	0	0	0	0	0	1	11823	639	23	1		1	PHF12	17	27240011	Silent	SNP	C	TCGA-BR-8687-01A-11D-2394-08	225784	27240011	53955199	149	73842											
SSH2	85464	broad.mit.edu	37	chr17	27963194	27963194	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgggagagctccacaaacTtctctagggcactaaaaaag	9	10	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr17:27963194T>G	uc002heo.1	-	14	1973	c.1973A>C	c.(1972-1974)AAG>ACG	p.K658T	SSH2_uc010wbh.1_Missense_Mutation_p.K685T	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	658					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						CTCCACAAACTTCTCTAGGGC	0.498													G	27963194	T	G	27963194	3	3	108	1	0	0	0	0	1	0	0	0	15184	1609	56	5	2306	5	SSH2	17	27963194	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	723183	27963194	53232016	150	73843											
KIF2B	84643	broad.mit.edu	37	chr17	51900831	51900831	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgatgaagcagaaaaAgtctccctgcctctgggaaa	10	9	3	3			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr17:51900831A>T	uc002iua.2	+	1	593	c.437A>T	c.(436-438)AAG>ATG	p.K146M	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	146					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						AAGCAGAAAAAGTCTCCCTGC	0.562													T	51900831	A	T	51900831	3	4	108	1	0	0	0	0	1	0	0	0	8298	72	3	5	439	5	KIF2B	17	51900831	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	23937637	51900831	29294379	151	73844											
CSH1	1442	broad.mit.edu	37	chr17	61972437	61972437	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaccatgcgcaggaatgtcTcgaccttgtccatgtccttc	9	14	1	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr17:61972437T>C	uc002jcs.1	-	5	715	c.599A>G	c.(598-600)GAG>GGG	p.E200G	CSH2_uc002jck.2_Intron|CSH1_uc002jcp.1_3'UTR|CSH1_uc002jcq.1_Missense_Mutation_p.E161G|CSH1_uc002jcr.1_3'UTR|CSH1_uc002jct.1_Missense_Mutation_p.E166G|CSH1_uc002jcu.1_3'UTR|CSH1_uc002jcv.1_Missense_Mutation_p.E105G|CSH1_uc002jcw.2_3'UTR	NM_001317	NP_001308	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 isoform 1	200		Zinc.			female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			skin(1)	1						CAGGAATGTCTCGACCTTGTC	0.577									Russell-Silver_syndrome				C	61972437	T	C	61972437	3	2	108	1	0	0	0	0	1	0	0	0	3940	1551	54	3	58	3	CSH1	17	61972437	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	10071606	61972437	19222773	152	73845											
HELZ	9931	broad.mit.edu	37	chr17	65157118	65157118	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcggcagctggattgcaAgtggagtggtaatggccaga	17	7	0	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr17:65157118A>G	uc010wqk.1	-	16	2157	c.1970T>C	c.(1969-1971)CTT>CCT	p.L657P	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.L657P	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTGGATTGCAAGTGGAGTGGT	0.448													G	65157118	A	G	65157118	3	3	108	1	0	0	0	0	1	0	0	0	7049	72	3	3	3930	3	HELZ	17	65157118	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	3184681	65157118	16038092	153	73846											
RNF213	57674	broad.mit.edu	37	chr17	78357495	78357495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcatctagataaaacccttCccaccatgaataatctcatc	3	13	2	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr17:78357495C>T	uc002jyh.1	+	34	8531	c.8308C>T	c.(8308-8310)CCC>TCC	p.P2770S	uc002jyi.1_Intron|RNF213_uc010dhx.1_5'Flank	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TAAAACCCTTCCCACCATGAA	0.433													T	78357495	C	T	78357495	3	4	108	1	0	0	0	0	1	0	0	0	13477	855	30	4	14638	4	RNF213	17	78357495	Missense_Mutation	SNP	C	TCGA-BR-8687-01A-11D-2394-08	13200377	78357495	2837715	154	73847											
LAMA3	3909	broad.mit.edu	37	chr18	21464785	21464785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagacgtgcggtgctcctgCaaagctgggtacacaggaac	15	10	0	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr18:21464785C>T	uc002kuq.2	+	41	5357	c.5271C>T	c.(5269-5271)TGC>TGT	p.C1757C	LAMA3_uc002kur.2_Silent_p.C1757C|LAMA3_uc002kus.3_Silent_p.C148C|LAMA3_uc002kut.3_Silent_p.C148C	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1757	Laminin EGF-like 14.|Domain III A.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGCTCCTGCAAAGCTGGGT	0.587													T	21464785	C	T	21464785	2	4	108	1	0	0	0	0	0	0	0	1	8607	718	25	2		2	LAMA3	18	21464785	Silent	SNP	C	TCGA-BR-8687-01A-11D-2394-08		21464785	56612463	155	73848											
NWD1	284434	broad.mit.edu	37	chr19	16860249	16860249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctacctgaaggagctgGgtgagcagtttgtggtgagg	17	7	0	3			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr19:16860249G>A	uc002neu.3	+	6	1218	c.796G>A	c.(796-798)GGT>AGT	p.G266S	NWD1_uc002net.3_Missense_Mutation_p.G131S|NWD1_uc002nev.3_Missense_Mutation_p.G60S			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	266							ATP binding			skin(3)|ovary(2)|pancreas(2)	7						GAAGGAGCTGGGTGAGCAGTT	0.617													A	16860249	G	A	16860249	3	1	108	1	0	0	0	0	1	0	0	0	10781	1232	43	4	397	4	NWD1	19	16860249	Missense_Mutation	SNP	G	TCGA-BR-8687-01A-11D-2394-08		16860249	42268734	156	73849											
ZNF569	148266	broad.mit.edu	37	chr19	37905139	37905139	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctaaacactttccaaataAgtcatactcatagagattgt	4	8	3	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr19:37905139A>G	uc002ogi.2	-	6	979	c.421T>C	c.(421-423)TTA>CTA	p.L141L	ZNF569_uc002ogh.2_5'UTR|ZNF569_uc002ogj.2_Silent_p.L165L	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTCCAAATAAGTCATACTCA	0.318													G	37905139	A	G	37905139	2	3	108	1	0	0	0	0	0	0	0	1	17997	69	3	3		3	ZNF569	19	37905139	Silent	SNP	A	TCGA-BR-8687-01A-11D-2394-08	21044890	37905139	21223844	157	73850											
SPTBN4	57731	broad.mit.edu	37	chr19	41077980	41077980	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gggaactgggcttctacaagGactccaagggcccggcatcc	13	13	1	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr19:41077980G>T	uc002ony.2	+	34	7461	c.7375G>T	c.(7375-7377)GAC>TAC	p.D2459Y	SPTBN4_uc002onz.2_Missense_Mutation_p.D2459Y|SPTBN4_uc010egx.2_Missense_Mutation_p.D1202Y	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	2459	PH.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTTCTACAAGGACTCCAAGGG	0.602													T	41077980	G	T	41077980	3	4	108	1	0	0	0	0	1	0	0	0	15120	1174	41	5	7599	5	SPTBN4	19	41077980	Missense_Mutation	SNP	G	TCGA-BR-8687-01A-11D-2394-08	3172841	41077980	18051003	158	73851											
PSG6	5675	broad.mit.edu	37	chr19	43411761	43411761	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgactgggttactgcggaTgccaccatatcggtcccgta	13	11	0	1	rs144117726	byFrequency	TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr19:43411761T>C	uc002ovj.1	-	4	1004	c.952A>G	c.(952-954)ATC>GTC	p.I318V	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Missense_Mutation_p.I325V|PSG6_uc002ovi.2_Missense_Mutation_p.I319V|PSG6_uc010xwk.1_Missense_Mutation_p.I158V|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_Missense_Mutation_p.I108V|PSG6_uc002ovf.1_Intron|PSG6_uc002ovg.1_Missense_Mutation_p.I318V	NM_002782	NP_002773	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6 isoform	318	Ig-like C2-type 2.				female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)				TTACTGCGGATGCCACCATAT	0.507													C	43411761	T	C	43411761	3	2	108	1	0	0	0	0	1	0	0	0	12659	1464	51	3	406	3	PSG6	19	43411761	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	2333781	43411761	15717222	159	73852											
PSG4	5672	broad.mit.edu	37	chr19	43699390	43699390	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttattctctctggggtttaAgttgttgattgtgatgtagg	12	4	2	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr19:43699390A>G	uc002ovy.2	-	4	847	c.745T>C	c.(745-747)TTA>CTA	p.L249L	PSG6_uc010xwk.1_Intron|PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Silent_p.L156L|PSG4_uc002ovz.2_Intron	NM_002780	NP_002771	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4 isoform	249	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)				CTGGGGTTTAAGTTGTTGATT	0.453													G	43699390	A	G	43699390	2	3	108	1	0	0	0	0	0	0	0	1	12657	69	3	3		3	PSG4	19	43699390	Silent	SNP	A	TCGA-BR-8687-01A-11D-2394-08	287629	43699390	15429593	160	73853											
IRGC	56269	broad.mit.edu	37	chr19	44223718	44223718	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccgctccccactggccaaCgaggtctcgcctgagactgt	10	16	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr19:44223718C>T	uc002oxh.2	+	2	1155	c.1008C>T	c.(1006-1008)AAC>AAT	p.N336N		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	336						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.0435)				CACTGGCCAACGAGGTCTCGC	0.662													T	44223718	C	T	44223718	2	4	108	1	0	0	0	0	0	0	0	1	7838	535	19	1		1	IRGC	19	44223718	Silent	SNP	C	TCGA-BR-8687-01A-11D-2394-08	524328	44223718	14905265	161	73854											
PRKD2	25865	broad.mit.edu	37	chr19	47197269	47197269	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggagtcccgccaggcatcTcgcccacgaagtaggtggca	13	15	1	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr19:47197269T>C	uc002pfh.2	-	11	1781	c.1439A>G	c.(1438-1440)GAG>GGG	p.E480G	PRKD2_uc010ekt.2_5'Flank|PRKD2_uc002pfe.2_5'UTR|PRKD2_uc002pff.2_5'UTR|PRKD2_uc002pfg.2_Missense_Mutation_p.E323G|PRKD2_uc002pfi.2_Missense_Mutation_p.E480G|PRKD2_uc002pfj.2_Missense_Mutation_p.E480G|PRKD2_uc010xye.1_Missense_Mutation_p.E480G|PRKD2_uc002pfk.2_Missense_Mutation_p.E323G	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	480	PH.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCCAGGCATCTCGCCCACGAA	0.672													C	47197269	T	C	47197269	3	2	108	1	0	0	0	0	1	0	0	0	12519	1551	54	3	1233	3	PRKD2	19	47197269	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	2973551	47197269	11931714	162	73855											
PRKD2	25865	broad.mit.edu	37	chr19	47207786	47207786	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagggcagggactcggagGtgccgaggcgcaccgagtgg	20	10	0	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr19:47207786G>T	uc002pfh.2	-	5	974	c.632C>A	c.(631-633)ACC>AAC	p.T211N	PRKD2_uc002pfg.2_Missense_Mutation_p.T54N|PRKD2_uc002pfi.2_Missense_Mutation_p.T211N|PRKD2_uc002pfj.2_Missense_Mutation_p.T211N|PRKD2_uc010xye.1_Missense_Mutation_p.T211N|PRKD2_uc002pfk.2_Missense_Mutation_p.T54N	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	211					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGACTCGGAGGTGCCGAGGCG	0.662											OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	47207786	G	T	47207786	3	4	108	1	0	0	0	0	1	0	0	0	12519	1261	44	5	2064	5	PRKD2	19	47207786	Missense_Mutation	SNP	G	TCGA-BR-8687-01A-11D-2394-08	10517	47207786	11921197	163	73856											
PPFIA3	8541	broad.mit.edu	37	chr19	49652922	49652922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaactttcgttcggctgCagcgggagccctgggctctc	12	16	1	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr19:49652922C>T	uc002pmr.2	+	28	3805	c.3473C>T	c.(3472-3474)GCA>GTA	p.A1158V	PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.A1017V|PPFIA3_uc002pmt.2_Missense_Mutation_p.A297V|PPFIA3_uc002pmu.1_Missense_Mutation_p.A207V	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	1158						cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CGTTCGGCTGCAGCGGGAGCC	0.657													T	49652922	C	T	49652922	3	4	108	1	0	0	0	0	1	0	0	0	12311	710	25	2	3579	2	PPFIA3	19	49652922	Missense_Mutation	SNP	C	TCGA-BR-8687-01A-11D-2394-08	2445136	49652922	9476061	164	73857											
LILRB1	10859	broad.mit.edu	37	chr19	55144500	55144500	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagagtctccctctcggtgcAgccgggccccacggtggcct	13	17	2	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr19:55144500A>T	uc002qgj.2	+	8	1332	c.992A>T	c.(991-993)CAG>CTG	p.Q331L	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.Q331L|LILRB1_uc002qgk.2_Missense_Mutation_p.Q331L|LILRB1_uc002qgm.2_Missense_Mutation_p.Q331L|LILRB1_uc010erq.2_Missense_Mutation_p.Q331L|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	331	Ig-like C2-type 4.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		CTCTCGGTGCAGCCGGGCCCC	0.607										HNSCC(37;0.09)			T	55144500	A	T	55144500	3	4	108	1	0	0	0	0	1	0	0	0	8790	188	7	5	1014	5	LILRB1	19	55144500	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	5491578	55144500	3984483	165	73858											
TNNI3	7137	broad.mit.edu	37	chr19	55665449	55665449	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgggcccgcaggtccagGgactccttagcccgggcccc	15	16	0	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr19:55665449G>A	uc002qjg.3	-	7	498	c.498C>T	c.(496-498)TCC>TCT	p.S166S	TNNI3_uc010yft.1_Silent_p.S158S	NM_000363	NP_000354	P19429	TNNI3_HUMAN	troponin I, cardiac	166			S -> F (in CMH7).		cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			lung(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GCAGGTCCAGGGACTCCTTAG	0.617													A	55665449	G	A	55665449	2	1	108	1	0	0	0	0	0	0	0	1	16325	1219	43	4		4	TNNI3	19	55665449	Silent	SNP	G	TCGA-BR-8687-01A-11D-2394-08	520949	55665449	3463534	166	73859											
NLRP4	147945	broad.mit.edu	37	chr19	56370116	56370116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctacgtgttcctccacGtgtgtatccaggagttctgt	10	12	1	0	rs140761924		TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr19:56370116G>A	uc002qmd.3	+	3	1779	c.1357G>A	c.(1357-1359)GTG>ATG	p.V453M	NLRP4_uc002qmf.2_Missense_Mutation_p.V378M|NLRP4_uc010etf.2_Missense_Mutation_p.V284M	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	453	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTTCCTCCACGTGTGTATCCA	0.537													A	56370116	G	A	56370116	3	1	108	1	0	0	0	0	1	0	0	0	10479	1145	40	1	1363	1	NLRP4	19	56370116	Missense_Mutation	SNP	G	TCGA-BR-8687-01A-11D-2394-08	704667	56370116	2758867	167	73860											
NLRP8	126205	broad.mit.edu	37	chr19	56467184	56467184	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcggtaataagaggaaacTgctgaaagtcatacctctgt	9	7	2	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr19:56467184T>C	uc002qmh.2	+	3	1831	c.1760T>C	c.(1759-1761)CTG>CCG	p.L587P	NLRP8_uc010etg.2_Missense_Mutation_p.L587P	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	587						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AAGAGGAAACTGCTGAAAGTC	0.502													C	56467184	T	C	56467184	3	2	108	1	0	0	0	0	1	0	0	0	10483	1580	55	3	1770	3	NLRP8	19	56467184	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	97068	56467184	2661799	168	73861											
NLRP8	126205	broad.mit.edu	37	chr19	56467229	56467229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatgtgacccaccttctcCgggcagtggggtcccgcagt	12	13	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr19:56467229C>T	uc002qmh.2	+	3	1876	c.1805C>T	c.(1804-1806)CCG>CTG	p.P602L	NLRP8_uc010etg.2_Missense_Mutation_p.P602L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	602						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCACCTTCTCCGGGCAGTGGG	0.468													T	56467229	C	T	56467229	3	4	108	1	0	0	0	0	1	0	0	0	10483	652	23	1	1815	1	NLRP8	19	56467229	Missense_Mutation	SNP	C	TCGA-BR-8687-01A-11D-2394-08	45	56467229	2661754	169	73862											
ZNF135	7694	broad.mit.edu	37	chr19	58578360	58578360	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgggtttggggaaaacataAgtctgaaccctgatctccca	10	9	2	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr19:58578360A>C	uc010yhq.1	+	5	640	c.544A>C	c.(544-546)AGT>CGT	p.S182R	ZNF135_uc002qre.2_Missense_Mutation_p.S170R|ZNF135_uc002qrd.1_Missense_Mutation_p.S128R|ZNF135_uc002qrf.2_Missense_Mutation_p.S128R|ZNF135_uc002qrg.2_Missense_Mutation_p.S140R|ZNF135_uc010yhr.1_5'UTR	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	182					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GGAAAACATAAGTCTGAACCC	0.527													C	58578360	A	C	58578360	3	2	108	1	0	0	0	0	1	0	0	0	17722	72	3	5	711	5	ZNF135	19	58578360	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	2111131	58578360	550623	170	73863											
ZNF274	10782	broad.mit.edu	37	chr19	58724210	58724210	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccctcacacagcatcagAgagttcattctggagagaga	9	11	4	3			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr19:58724210A>G	uc002qrq.1	+	10	2122	c.1663A>G	c.(1663-1665)AGA>GGA	p.R555G	ZNF274_uc002qrr.1_Missense_Mutation_p.R523G|ZNF274_uc002qrs.1_Missense_Mutation_p.R450G|ZNF274_uc010eum.1_Missense_Mutation_p.R314G	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	zinc finger protein 274 isoform c	555	C2H2-type 2.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ACAGCATCAGAGAGTTCATTC	0.502													G	58724210	A	G	58724210	3	3	108	1	0	0	0	0	1	0	0	0	17806	296	11	3	1688	3	ZNF274	19	58724210	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	145850	58724210	404773	171	73864											
ANGPT4	51378	broad.mit.edu	37	chr20	853672	853672	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggcccttgaagtagtgCcagcggatgccgtccatctt	13	12	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr20:853672C>T	uc002wei.2	-	9	1546	c.1443G>A	c.(1441-1443)TGG>TGA	p.W481*	ANGPT4_uc010zpn.1_3'UTR	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	angiopoietin 4 precursor	481	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			ovary(2)	2						TGAAGTAGTGCCAGCGGATGC	0.577													T	853672	C	T	853672	4	4	108	1	0	0	0	0	0	1	0	0	612	740	26	2	72	2	ANGPT4	20	853672	Nonsense_Mutation	SNP	C	TCGA-BR-8687-01A-11D-2394-08		853672	62171848	172	73865											
RSPO4	343637	broad.mit.edu	37	chr20	948593	948593	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagggagaagccacgtacTtttgcacctgttgacctcct	9	12	0	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr20:948593T>G	uc002wej.2	-	2	365	c.268A>C	c.(268-270)AAA>CAA	p.K90Q	RSPO4_uc002wek.2_Missense_Mutation_p.K90Q	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	R-spondin family, member 4 isoform 1 precursor	90	FU.				Wnt receptor signaling pathway	extracellular region	heparin binding				0						AGCCACGTACTTTTGCACCTG	0.597													G	948593	T	G	948593	3	3	108	1	0	0	0	0	1	0	0	0	13712	1623	56	5	452	5	RSPO4	20	948593	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	94921	948593	62076927	173	73866											
CSRP2BP	57325	broad.mit.edu	37	chr20	18142527	18142527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttagaaaacgagcaagtcGgaatcctgtggaatctgcca	10	9	1	1	rs150894437		TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr20:18142527G>A	uc002wqj.2	+	6	1368	c.746G>A	c.(745-747)CGG>CAG	p.R249Q	CSRP2BP_uc002wqk.2_Missense_Mutation_p.R121Q|CSRP2BP_uc010zru.1_Missense_Mutation_p.R120Q	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	249					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						CGAGCAAGTCGGAATCCTGTG	0.383													A	18142527	G	A	18142527	3	1	108	1	0	0	0	0	1	0	0	0	3968	1116	39	1	764	1	CSRP2BP	20	18142527	Missense_Mutation	SNP	G	TCGA-BR-8687-01A-11D-2394-08	17193934	18142527	44882993	174	73867											
RPN2	6185	broad.mit.edu	37	chr20	35858392	35858392	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaggctgatgtggtcatcaAgttccctgaggaagaagctc	12	9	2	3	rs139589912		TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr20:35858392A>G	uc002xgp.2	+	13	1815	c.1511A>G	c.(1510-1512)AAG>AGG	p.K504R	RPN2_uc002xgq.2_Missense_Mutation_p.K472R	NM_002951	NP_002942	P04844	RPN2_HUMAN	ribophorin II isoform 1 precursor	504	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				GTGGTCATCAAGTTCCCTGAG	0.443													G	35858392	A	G	35858392	3	3	108	1	0	0	0	0	1	0	0	0	13608	72	3	3	1561	3	RPN2	20	35858392	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	17715865	35858392	27167128	175	73868											
PIGT	51604	broad.mit.edu	37	chr20	44045194	44045194	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcccaaagccctggggcaGctgatctccaagtattctct	8	13	2	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr20:44045194G>A	uc002xoh.1	+	2	298	c.225G>A	c.(223-225)CAG>CAA	p.Q75Q	PIGT_uc010ghb.1_Silent_p.Q75Q|PIGT_uc010zwt.1_RNA|PIGT_uc010ghd.1_Intron|PIGT_uc010ghc.1_RNA|PIGT_uc010ghe.1_Silent_p.Q75Q|PIGT_uc010ghf.1_Silent_p.Q75Q|PIGT_uc002xoj.1_Silent_p.Q75Q|PIGT_uc002xok.1_Silent_p.Q75Q|PIGT_uc010zwu.1_5'UTR|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Intron|PIGT_uc010zww.1_Silent_p.Q75Q|PIGT_uc010zwx.1_5'UTR|PIGT_uc010zwy.1_Intron|PIGT_uc010zwz.1_Intron|PIGT_uc010zxa.1_5'UTR|PIGT_uc002xol.1_5'Flank	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	75	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)				CCCTGGGGCAGCTGATCTCCA	0.602													A	44045194	G	A	44045194	2	1	108	1	0	0	0	0	0	0	0	1	11899	962	34	2		2	PIGT	20	44045194	Silent	SNP	G	TCGA-BR-8687-01A-11D-2394-08	8186802	44045194	18980326	176	73869											
NTSR1	4923	broad.mit.edu	37	chr20	61391604	61391604	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctccagcaatgccacccgCgagacgctgtactaggctgt	10	15	1	1	rs73918683		TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr20:61391604C>A	uc002ydf.2	+	4	1613	c.1242C>A	c.(1240-1242)CGC>CGA	p.R414R		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	414	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			ATGCCACCCGCGAGACGCTGT	0.687													A	61391604	C	A	61391604	2	1	108	1	0	0	0	0	0	0	0	1	10710	755	27	5		5	NTSR1	20	61391604	Silent	SNP	C	TCGA-BR-8687-01A-11D-2394-08	17346410	61391604	1633916	177	73870											
MYT1	4661	broad.mit.edu	37	chr20	62839769	62839769	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgcctgccgagcagagccAgctgggcctgggagagccag	16	15	0	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr20:62839769A>G	uc002yii.2	+	7	1584	c.1220A>G	c.(1219-1221)CAG>CGG	p.Q407R	MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_Missense_Mutation_p.Q39R	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	407					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GAGCAGAGCCAGCTGGGCCTG	0.667													G	62839769	A	G	62839769	3	3	108	1	0	0	0	0	1	0	0	0	10106	188	7	3	1238	3	MYT1	20	62839769	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	1448165	62839769	185751	178	73871											
RNF160	26046	broad.mit.edu	37	chr21	30316135	30316135	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaagtttgtgactcaaTagctgttcctttgagatata	10	6	1	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr21:30316135T>G	uc002ymr.2	-	23	4225	c.4212A>C	c.(4210-4212)CTA>CTC	p.L1404L		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	1358							ligase activity|zinc ion binding				0						TGTGACTCAATAGCTGTTCCT	0.373													G	30316135	T	G	30316135	2	3	108	1	0	0	0	0	0	0	0	1	13455	1393	49	5		5	RNF160	21	30316135	Silent	SNP	T	TCGA-BR-8687-01A-11D-2394-08		30316135	17813760	179	73872											
ITSN1	6453	broad.mit.edu	37	chr21	35190767	35190767	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catttcagggcccataaggaAgtctacaaggtatttttgta	9	7	2	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr21:35190767A>G	uc002yta.1	+	23	3192	c.2924A>G	c.(2923-2925)AAG>AGG	p.K975R	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.K970R|ITSN1_uc010gmg.2_Missense_Mutation_p.K933R|ITSN1_uc010gmh.2_Intron|ITSN1_uc002ysw.2_Missense_Mutation_p.K975R|ITSN1_uc010gmi.2_Missense_Mutation_p.K938R|ITSN1_uc010gmj.2_Missense_Mutation_p.K854R|ITSN1_uc002ysy.2_Missense_Mutation_p.K970R|ITSN1_uc002ysx.2_Missense_Mutation_p.K933R|ITSN1_uc002ytb.1_Missense_Mutation_p.K970R|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.K938R|ITSN1_uc010gml.2_Intron|ITSN1_uc002ytj.2_Missense_Mutation_p.K970R|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.K909R|ITSN1_uc002ytg.1_Missense_Mutation_p.K28R	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	975					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						CCCATAAGGAAGTCTACAAGG	0.398													G	35190767	A	G	35190767	3	3	108	1	0	0	0	0	1	0	0	0	7926	72	3	3	3010	3	ITSN1	21	35190767	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	4874632	35190767	12939128	180	73873											
DOPEY2	9980	broad.mit.edu	37	chr21	37650614	37650614	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtcctggagctgtttcTcgaccccgctttctttcaga	11	12	3	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr21:37650614T>C	uc002yvg.2	+	30	6009	c.5930T>C	c.(5929-5931)CTC>CCC	p.L1977P	DOPEY2_uc011aeb.1_Missense_Mutation_p.L1926P	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1977					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						GAGCTGTTTCTCGACCCCGCT	0.527													C	37650614	T	C	37650614	3	2	108	1	0	0	0	0	1	0	0	0	4708	1551	54	3	6044	3	DOPEY2	21	37650614	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	2459847	37650614	10479281	181	73874											
GNAZ	2781	broad.mit.edu	37	chr22	23465312	23465312	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgcgcctctttgactccatCtgcaacaacaactggttcat	6	13	3	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr22:23465312C>G	uc002zwu.1	+	3	1299	c.762C>G	c.(760-762)ATC>ATG	p.I254M	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	254						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TTGACTCCATCTGCAACAACA	0.552													G	23465312	C	G	23465312	3	3	108	1	0	0	0	0	1	0	0	0	6514	903	32	5	768	5	GNAZ	22	23465312	Missense_Mutation	SNP	C	TCGA-BR-8687-01A-11D-2394-08		23465312	27839254	182	73875											
GNAZ	2781	broad.mit.edu	37	chr22	23465478	23465478	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acatccagcggcagtttgaaGacctgaaccgcaacaaggag	11	11	0	3			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr22:23465478G>A	uc002zwu.1	+	3	1465	c.928G>A	c.(928-930)GAC>AAC	p.D310N	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	310						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GCAGTTTGAAGACCTGAACCG	0.567													A	23465478	G	A	23465478	3	1	108	1	0	0	0	0	1	0	0	0	6514	942	33	4	934	4	GNAZ	22	23465478	Missense_Mutation	SNP	G	TCGA-BR-8687-01A-11D-2394-08	166	23465478	27839088	183	73876											
TFIP11	24144	broad.mit.edu	37	chr22	26895380	26895380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgctcatactgtagctgcCggtcattctggatgatctcc	9	14	4	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr22:26895380C>T	uc003acr.2	-	8	1393	c.1019G>A	c.(1018-1020)CGG>CAG	p.R340Q	TFIP11_uc003acs.2_Missense_Mutation_p.R340Q|TFIP11_uc003act.2_Missense_Mutation_p.R340Q	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	340					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						CTGTAGCTGCCGGTCATTCTG	0.617													T	26895380	C	T	26895380	3	4	108	1	0	0	0	0	1	0	0	0	15804	652	23	1	1522	1	TFIP11	22	26895380	Missense_Mutation	SNP	C	TCGA-BR-8687-01A-11D-2394-08	3429902	26895380	24409186	184	73877											
NF2	4771	broad.mit.edu	37	chr22	30074212	30074212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaattccagcaccgttgCctcctgacataccaagcttc	5	17	0	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr22:30074212C>T	uc003age.3	+	14	1917	c.1474C>T	c.(1474-1476)CCT>TCT	p.P492S	NF2_uc003afy.3_Missense_Mutation_p.P492S|NF2_uc003afz.3_Missense_Mutation_p.P409S|NF2_uc003agf.3_Missense_Mutation_p.P492S|NF2_uc003agb.3_Missense_Mutation_p.P415S|NF2_uc003agc.3_Missense_Mutation_p.P454S|NF2_uc003agd.3_RNA|NF2_uc003agg.3_Missense_Mutation_p.P492S|NF2_uc003aga.3_Missense_Mutation_p.P450S|NF2_uc003agh.3_Missense_Mutation_p.P451S|NF2_uc003agi.3_Missense_Mutation_p.P409S|NF2_uc003agj.3_Intron|NF2_uc003agk.3_Missense_Mutation_p.P454S|NF2_uc010gvp.2_Missense_Mutation_p.P156S|NF2_uc011akq.1_Missense_Mutation_p.P118S	NM_000268	NP_000259	P35240	MERL_HUMAN	neurofibromin 2 isoform 1	492					actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.P492fs*1(2)|p.P483fs*17(1)|p.?(1)		meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1)	728						AGCACCGTTGCCTCCTGACAT	0.458			D|Mis|N|F|S|O		meningioma|acoustic neuroma|renal 	meningioma|acoustic neuroma			Neurofibromatosis_type_2				T	30074212	C	T	30074212	3	4	108	1	0	0	0	0	1	0	0	0	10357	739	26	2	1528	2	NF2	22	30074212	Missense_Mutation	SNP	C	TCGA-BR-8687-01A-11D-2394-08	3178832	30074212	21230354	185	73878											
CELSR1	9620	broad.mit.edu	37	chr22	46804928	46804928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggcccaccactggtggCctccatcagaacgctgtcct	12	15	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chr22:46804928C>T	uc003bhw.1	-	9	5191	c.5191G>A	c.(5191-5193)GCC>ACC	p.A1731T	CELSR1_uc011arc.1_Missense_Mutation_p.A44T	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1731	Extracellular (Potential).|Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCACTGGTGGCCTCCATCAGA	0.657													T	46804928	C	T	46804928	3	4	108	1	0	0	0	0	1	0	0	0	3221	739	26	2	3961	2	CELSR1	22	46804928	Missense_Mutation	SNP	C	TCGA-BR-8687-01A-11D-2394-08	16730716	46804928	4499638	186	73879											
GPR143	4935	broad.mit.edu	37	chrX	9693829	9693829	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcagggtcaccctcatttTtgttgcaggattcacttgca	10	10	3	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chrX:9693829T>G	uc004cst.1	-	9	1232	c.1232A>C	c.(1231-1233)AAA>ACA	p.K411T		NM_000273	NP_000264	P51810	GP143_HUMAN	G protein-coupled receptor 143	391	Cytoplasmic (Potential).				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			ovary(1)	1		Hepatocellular(5;0.000888)				ACCCTCATTTTTGTTGCAGGA	0.483													G	9693829	T	G	9693829	3	3	108	1	0	0	0	0	1	0	0	0	6651	1841	64	5	46	5	GPR143	23	9693829	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08		9693829	145576731	187	73880											
MAGEB18	286514	broad.mit.edu	37	chrX	26157256	26157256	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgacagaccccagaatTtgcctgctgctgagacacct	10	12	0	4			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chrX:26157256T>C	uc004dbq.1	+	2	341	c.154T>C	c.(154-156)TTG>CTG	p.L52L		NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	52							protein binding			central_nervous_system(1)	1						ACCCCAGAATTTGCCTGCTGC	0.542													C	26157256	T	C	26157256	2	2	108	1	0	0	0	0	0	0	0	1	9175	1838	64	3		3	MAGEB18	23	26157256	Silent	SNP	T	TCGA-BR-8687-01A-11D-2394-08	16463427	26157256	129113304	188	73881											
CACNA1F	778	broad.mit.edu	37	chrX	49061780	49061780	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctgcttggccagggccacGaaacgtgggtctcgagcaaa	13	12	1	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chrX:49061780G>A	uc004dnb.2	-	48	5813	c.5751C>T	c.(5749-5751)TTC>TTT	p.F1917F	CACNA1F_uc010nip.2_Silent_p.F1906F	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1917	Cytoplasmic (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	CCAGGGCCACGAAACGTGGGT	0.602													A	49061780	G	A	49061780	2	1	108	1	0	0	0	0	0	0	0	1	2543	1049	37	1		1	CACNA1F	23	49061780	Silent	SNP	G	TCGA-BR-8687-01A-11D-2394-08	22904524	49061780	106208780	189	73882											
NOX1	27035	broad.mit.edu	37	chrX	100117182	100117182	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggggatgcccttcaaacTtagggcgcctacagtgggag	15	10	1	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chrX:100117182T>C	uc004egj.2	-	7	988	c.782A>G	c.(781-783)AAG>AGG	p.K261R	uc010nnf.2_Intron|NOX1_uc004egl.3_Missense_Mutation_p.K261R|NOX1_uc010nne.2_Missense_Mutation_p.K224R	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1 isoform long	261	Ferric oxidoreductase.|Extracellular (Potential).				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			ovary(1)	1						CCCTTCAAACTTAGGGCGCCT	0.443													C	100117182	T	C	100117182	3	2	108	1	0	0	0	0	1	0	0	0	10556	1609	56	3	940	3	NOX1	23	100117182	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	51055402	100117182	55153378	190	73883											
NXF5	55998	broad.mit.edu	37	chrX	101095862	101095862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgcacaagttcaaagaCaacagctttgggtcaagaag	10	7	2	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chrX:101095862C>T	uc011mrk.1	-	9	846	c.486G>A	c.(484-486)TTG>TTA	p.L162L	NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_Intron|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	162	LRR 1.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			central_nervous_system(1)	1						AGTTCAAAGACAACAGCTTTG	0.463													T	101095862	C	T	101095862	2	4	108	1	0	0	0	0	0	0	0	1	10786	477	17	4		4	NXF5	23	101095862	Silent	SNP	C	TCGA-BR-8687-01A-11D-2394-08	978680	101095862	54174698	191	73884											
ARMCX5	64860	broad.mit.edu	37	chrX	101857231	101857231	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgacccaggccaaagcTggtgatggagcaatgaccag	13	10	1	3			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chrX:101857231T>C	uc004ejg.2	+	6	1043	c.162T>C	c.(160-162)GCT>GCC	p.A54A	ARMCX5_uc004ejh.2_Silent_p.A54A	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	54							binding			ovary(1)	1						AGGCCAAAGCTGGTGATGGAG	0.512													C	101857231	T	C	101857231	2	2	108	1	0	0	0	0	0	0	0	1	962	1567	55	3		3	ARMCX5	23	101857231	Silent	SNP	T	TCGA-BR-8687-01A-11D-2394-08	761369	101857231	53413329	192	73885											
BHLHB9	80823	broad.mit.edu	37	chrX	102004547	102004547	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtatgaaattaatgaaaaAaataggcccaaggactggtc	10	5	0	2			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chrX:102004547A>G	uc010nog.2	+	4	1195	c.624A>G	c.(622-624)AAA>AAG	p.K208K	BHLHB9_uc011mrq.1_Silent_p.K208K|BHLHB9_uc011mrr.1_Silent_p.K208K|BHLHB9_uc011mrs.1_Silent_p.K208K|BHLHB9_uc011mrt.1_Silent_p.K208K|BHLHB9_uc004ejo.2_Silent_p.K208K|BHLHB9_uc011mru.1_Silent_p.K208K|BHLHB9_uc011mrv.1_Silent_p.K208K	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	208						cytoplasm|nucleus	binding			ovary(2)	2						TTAATGAAAAAAATAGGCCCA	0.458													G	102004547	A	G	102004547	2	3	108	1	0	0	0	0	0	0	0	1	1420	11	1	3		3	BHLHB9	23	102004547	Silent	SNP	A	TCGA-BR-8687-01A-11D-2394-08	147316	102004547	53266013	193	73886											
NXF3	56000	broad.mit.edu	37	chrX	102337226	102337226	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtcgtgcacactgggcTtctgtccgcacacttctctc	10	14	2	0			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chrX:102337226T>G	uc004eju.2	-	9	918	c.847A>C	c.(847-849)AGC>CGC	p.S283R	NXF3_uc010noi.1_Missense_Mutation_p.S133R|NXF3_uc011mrw.1_Missense_Mutation_p.S283R|NXF3_uc011mrx.1_Missense_Mutation_p.S194R	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	283						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3						CACACTGGGCTTCTGTCCGCA	0.537													G	102337226	T	G	102337226	3	3	108	1	0	0	0	0	1	0	0	0	10785	1609	56	5	792	5	NXF3	23	102337226	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	332679	102337226	52933334	194	73887											
ACSL4	2182	broad.mit.edu	37	chrX	108887374	108887374	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggggtccatggctctgggcTtaatcgaaccttgattggaa	13	8	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chrX:108887374T>C	uc004eoi.2	-	17	2525	c.2020A>G	c.(2020-2022)AGC>GGC	p.S674G	ACSL4_uc004eoj.2_Missense_Mutation_p.S633G|ACSL4_uc004eok.2_Missense_Mutation_p.S633G	NM_022977	NP_075266	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	674	Cytoplasmic (Potential).				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(1)|lung(1)|ovary(1)	3					Icosapent(DB00159)|Troglitazone(DB00197)	GGCTCTGGGCTTAATCGAACC	0.323													C	108887374	T	C	108887374	3	2	108	1	0	0	0	0	1	0	0	0	179	1609	56	3	119	3	ACSL4	23	108887374	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	6550148	108887374	46383186	195	73888											
DOCK11	139818	broad.mit.edu	37	chrX	117788650	117788650	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaaatgaaggagcatgAgaaagaccctgaaatgctaa	10	8	0	4			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chrX:117788650A>T	uc004eqp.2	+	43	4844	c.4781A>T	c.(4780-4782)GAG>GTG	p.E1594V	DOCK11_uc004eqq.2_Missense_Mutation_p.E1373V	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1594	DHR-2.				blood coagulation	cytosol	GTP binding			ovary(3)	3						AAGGAGCATGAGAAAGACCCT	0.468													T	117788650	A	T	117788650	3	4	108	1	0	0	0	0	1	0	0	0	4686	304	11	5	4951	5	DOCK11	23	117788650	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	8901276	117788650	37481910	196	73889											
ODZ1	10178	broad.mit.edu	37	chrX	123657356	123657356	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atacaactctctgcatggtgActttctctaccacaataaac	4	12	2	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chrX:123657356A>C	uc004euj.2	-	17	2955	c.2891T>G	c.(2890-2892)GTC>GGC	p.V964G	ODZ1_uc011muj.1_Missense_Mutation_p.V963G|ODZ1_uc010nqy.2_Missense_Mutation_p.V964G	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	964	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						CTGCATGGTGACTTTCTCTAC	0.478													C	123657356	A	C	123657356	3	2	108	1	0	0	0	0	1	0	0	0	10834	275	10	5	5371	5	ODZ1	23	123657356	Missense_Mutation	SNP	A	TCGA-BR-8687-01A-11D-2394-08	5868706	123657356	31613204	197	73890											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298907	125298907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttctgctggcgctggcgcGgatccaggaaggagacgtgg	18	9	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chrX:125298907G>A	uc004euk.1	-	1	1028	c.1001C>T	c.(1000-1002)CCG>CTG	p.P334L		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	334										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						GCGCTGGCGCGGATCCAGGAA	0.617													A	125298907	G	A	125298907	3	1	108	1	0	0	0	0	1	0	0	0	4265	1116	39	1	394	1	DCAF12L2	23	125298907	Missense_Mutation	SNP	G	TCGA-BR-8687-01A-11D-2394-08	1641551	125298907	29971653	198	73891											
CXorf40A	91966	broad.mit.edu	37	chrX	148627278	148627278	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtcccctgctgagcagccaGcggaactgtaccatcgccgt	11	16	0	1	rs144189124	byFrequency	TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chrX:148627278G>T	uc004fdb.2	+	4	374	c.102G>T	c.(100-102)CAG>CAT	p.Q34H	CXorf40A_uc011mxm.1_Missense_Mutation_p.Q34H|CXorf40A_uc011mxn.1_Missense_Mutation_p.Q34H|CXorf40A_uc004fdd.2_Missense_Mutation_p.Q34H|CXorf40A_uc004fde.1_Missense_Mutation_p.Q34H|CXorf40A_uc011mxo.1_Missense_Mutation_p.A124S|CXorf40A_uc004fdg.2_Missense_Mutation_p.Q34H|CXorf40A_uc004fdf.2_Missense_Mutation_p.Q34H|CXorf40A_uc004fdh.2_Missense_Mutation_p.Q34H|CXorf40A_uc010nsy.2_Missense_Mutation_p.Q34H|CXorf40A_uc004fdi.2_Missense_Mutation_p.Q51H	NM_178124	NP_835225	Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40	34							protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGAGCAGCCAGCGGAACTGTA	0.592													T	148627278	G	T	148627278	3	4	108	1	0	0	0	0	1	0	0	0	4108	962	34	5	104	5	CXorf40A	23	148627278	Missense_Mutation	SNP	G	TCGA-BR-8687-01A-11D-2394-08	23328371	148627278	6643282	199	73892											
GABRQ	55879	broad.mit.edu	37	chrX	151817720	151817720	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttcctttgcagactcacCactacagcagcttgttccct	6	14	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chrX:151817720C>T	uc004ffp.1	+	5	554	c.534C>T	c.(532-534)ACC>ACT	p.T178T		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	178	Extracellular (Potential).					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGACTCACCACTACAGCAG	0.507													T	151817720	C	T	151817720	2	4	108	1	0	0	0	0	0	0	0	1	6175	581	21	4		4	GABRQ	23	151817720	Silent	SNP	C	TCGA-BR-8687-01A-11D-2394-08	3190442	151817720	3452840	200	73893											
PLXNB3	5365	broad.mit.edu	37	chrX	153042361	153042361	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccagatggagcaacagTggggctcgtccctcagctgc	14	13	1	1			TCGA-BR-8687-01A-11D-2394-08	TCGA-BR-8687-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd5f700f-a8cf-471b-a268-6ec604c3bed6	54a3ff23-3014-4dc2-8bf9-d5c6b3e63618	g.chrX:153042361T>G	uc004fii.2	+	29	5027	c.4853T>G	c.(4852-4854)GTG>GGG	p.V1618G	PLXNB3_uc010nuk.2_Missense_Mutation_p.V1641G|PLXNB3_uc011mzd.1_Missense_Mutation_p.V1257G|SRPK3_uc004fik.2_5'UTR	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1618	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAGCAACAGTGGGGCTCGTC	0.612													G	153042361	T	G	153042361	3	3	108	1	0	0	0	0	1	0	0	0	12125	1696	59	5	5081	5	PLXNB3	23	153042361	Missense_Mutation	SNP	T	TCGA-BR-8687-01A-11D-2394-08	1224641	153042361	2228199	201	73894											
TXLNA	200081	broad.mit.edu	37	chr1	32658837	32658837	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atacacagagaagtttgaggAgttccagaacacactttcca	8	9	0	3			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:32658837A>T	uc001bui.2	+	9	1252	c.1187A>T	c.(1186-1188)GAG>GTG	p.E396V	TXLNA_uc001buj.2_Missense_Mutation_p.E396V	NM_175852	NP_787048	P40222	TXLNA_HUMAN	taxilin	396	Potential.				cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AAGTTTGAGGAGTTCCAGAAC	0.527													T	32658837	A	T	32658837	3	4	109	1	0	0	0	0	1	0	0	0	16784	304	11	5	1217	5	TXLNA	1	32658837	Missense_Mutation	SNP	A	TCGA-BR-8690-01A-11D-2394-08		32658837	216591784	1	73895											
JAK1	3716	broad.mit.edu	37	chr1	65304184	65304184	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcatattttagctgctgtttGaggtttattttgttcttatt	8	4	1	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:65304184G>C	uc001dbu.1	-	21	3180	c.2931C>G	c.(2929-2931)CTC>CTG	p.L977L	JAK1_uc009wam.1_Silent_p.L965L|JAK1_uc009wal.1_Silent_p.L154L	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	977	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.E966_K989del(1)		haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GCTGCTGTTTGAGGTTTATTT	0.358			Mis		ALL								C	65304184	G	C	65304184	2	2	109	1	0	0	0	0	0	0	0	1	7937	1277	45	5		5	JAK1	1	65304184	Silent	SNP	G	TCGA-BR-8690-01A-11D-2394-08	32645347	65304184	183946437	2	73896											
ELTD1	64123	broad.mit.edu	37	chr1	79387436	79387436	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	atggtatcaggtgagtaattCcaaaatgcacatagactcct	8	8	1	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:79387436C>G	uc001diq.3	-	9	1275	c.1119G>C	c.(1117-1119)TGG>TGC	p.W373C		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	373	GPS.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GTGAGTAATTCCAAAATGCAC	0.398													G	79387436	C	G	79387436	3	3	109	1	0	0	0	0	1	0	0	0	5084	856	30	5	981	5	ELTD1	1	79387436	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	14083252	79387436	169863185	3	73897											
TRIM33	51592	broad.mit.edu	37	chr1	114968300	114968300	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaacttgcccaactacaacaTtaggagtataaccaggagct	8	10	0	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:114968300T>A	uc001eew.2	-	9	1550	c.1466A>T	c.(1465-1467)AAT>ATT	p.N489I	TRIM33_uc010owr.1_Intron|TRIM33_uc010ows.1_Missense_Mutation_p.N97I|TRIM33_uc001eex.2_Missense_Mutation_p.N489I	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	489					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACTACAACATTAGGAGTATA	0.373			T	RET	papillary thyroid								A	114968300	T	A	114968300	3	1	109	1	0	0	0	0	1	0	0	0	16504	1493	52	5	1965	5	TRIM33	1	114968300	Missense_Mutation	SNP	T	TCGA-BR-8690-01A-11D-2394-08	35580864	114968300	134282321	4	73898											
GABPB2	126626	broad.mit.edu	37	chr1	151090703	151090703	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaccacagagcctcacactAgagtttccatggcaactgtt	9	12	1	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:151090703A>G	uc001ewr.2	+	9	1649	c.1318A>G	c.(1318-1320)AGA>GGA	p.R440G	GABPB2_uc001ews.2_Missense_Mutation_p.R400G|GABPB2_uc001ewt.2_3'UTR	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	GA repeat binding protein, beta 2	440					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding				0				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GCCTCACACTAGAGTTTCCAT	0.438													G	151090703	A	G	151090703	3	3	109	1	0	0	0	0	1	0	0	0	6159	412	15	3	1348	3	GABPB2	1	151090703	Missense_Mutation	SNP	A	TCGA-BR-8690-01A-11D-2394-08	36122403	151090703	98159918	5	73899											
FLG	2312	broad.mit.edu	37	chr1	152282658	152282658	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgagtgtctagagctgccGgcccgagtggaaggttcatg	16	8	2	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:152282658G>A	uc001ezu.1	-	3	4740	c.4704C>T	c.(4702-4704)GCC>GCT	p.A1568A		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1568	Ser-rich.|Filaggrin 9.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGAGCTGCCGGCCCGAGTGG	0.587									Ichthyosis				A	152282658	G	A	152282658	2	1	109	1	0	0	0	0	0	0	0	1	5922	1103	39	1		1	FLG	1	152282658	Silent	SNP	G	TCGA-BR-8690-01A-11D-2394-08	1191955	152282658	96967963	6	73900											
CHRNB2	1141	broad.mit.edu	37	chr1	154544415	154544415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccagcgtgagcgcgagggCgctggagccctcttcttccg	15	15	2	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:154544415C>T	uc001ffg.2	+	5	1380	c.1116C>T	c.(1114-1116)GGC>GGT	p.G372G		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	372	Cytoplasmic (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	AGCGCGAGGGCGCTGGAGCCC	0.716													T	154544415	C	T	154544415	2	4	109	1	0	0	0	0	0	0	0	1	3391	755	27	1		1	CHRNB2	1	154544415	Silent	SNP	C	TCGA-BR-8690-01A-11D-2394-08	2261757	154544415	94706206	7	73901											
FCRL1	115350	broad.mit.edu	37	chr1	157771760	157771760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccaggccattgttggcCtcacaggagtagtttccaga	11	13	1	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:157771760C>T	uc001frg.2	-	5	944	c.831G>A	c.(829-831)GAG>GAA	p.E277E	FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Silent_p.E277E|FCRL1_uc001fri.2_Silent_p.E277E|FCRL1_uc001frj.2_RNA	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	277	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			skin(4)|ovary(3)	7	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CATTGTTGGCCTCACAGGAGT	0.567													T	157771760	C	T	157771760	2	4	109	1	0	0	0	0	0	0	0	1	5794	680	24	4		4	FCRL1	1	157771760	Silent	SNP	C	TCGA-BR-8690-01A-11D-2394-08	3227345	157771760	91478861	8	73902											
CD5L	922	broad.mit.edu	37	chr1	157804383	157804383	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccctcccacatcccagctGccggcacaccacctttgcgg	8	20	0	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:157804383G>A	uc001frk.3	-	4	675	c.532C>T	c.(532-534)CAG>TAG	p.Q178*		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	178	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CATCCCAGCTGCCGGCACACC	0.592													A	157804383	G	A	157804383	4	1	109	1	0	0	0	0	0	1	0	0	3027	1328	46	2	523	2	CD5L	1	157804383	Nonsense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08	32623	157804383	91446238	9	73903											
KIAA1614	57710	broad.mit.edu	37	chr1	180905367	180905367	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaagccacgagtccctggaAattgtctctccttcctccct	7	15	1	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:180905367A>T	uc001gok.2	+	5	2389	c.2322A>T	c.(2320-2322)GAA>GAT	p.E774D	KIAA1614_uc001gol.1_Missense_Mutation_p.E395D|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	774										ovary(3)|skin(1)	4						AGTCCCTGGAAATTGTCTCTC	0.617													T	180905367	A	T	180905367	3	4	109	1	0	0	0	0	1	0	0	0	8248	11	1	5	2340	5	KIAA1614	1	180905367	Missense_Mutation	SNP	A	TCGA-BR-8690-01A-11D-2394-08	23100984	180905367	68345254	10	73904											
ZNF648	127665	broad.mit.edu	37	chr1	182026306	182026306	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttcccgcatagctcgcaCgcgtagcgcttggcggcgcc	13	17	0	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:182026306C>T	uc001goz.2	-	2	1048	c.840G>A	c.(838-840)GCG>GCA	p.A280A		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	280	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATAGCTCGCACGCGTAGCGCT	0.726													T	182026306	C	T	182026306	2	4	109	1	0	0	0	0	0	0	0	1	18060	523	19	1		1	ZNF648	1	182026306	Silent	SNP	C	TCGA-BR-8690-01A-11D-2394-08	1120939	182026306	67224315	11	73905											
KCNT2	343450	broad.mit.edu	37	chr1	196205114	196205114	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgagatatgagatcaacttAcacaacatcattcagctcta	5	9	4	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:196205114A>G	uc001gtd.1	-	27	3356	c.3296_splice	c.e27+1	p.V1099_splice	KCNT2_uc009wyt.1_Splice_Site|KCNT2_uc001gte.1_Splice_Site_p.V1032_splice|KCNT2_uc001gtf.1_Splice_Site_p.V1075_splice|KCNT2_uc001gtg.1_Splice_Site	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2							voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						AGATCAACTTACACAACATCA	0.299													G	196205114	A	G	196205114	5	3	109	1	0	0	0	0	0	0	1	0	8092	405	14	3	117	3	KCNT2	1	196205114	Splice_Site	SNP	A	TCGA-BR-8690-01A-11D-2394-08	14178808	196205114	53045507	12	73906											
PPP2R5A	5525	broad.mit.edu	37	chr1	212534003	212534003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaagaaggaattggaacGtgaagaattatggaaaaaat	11	1	0	3			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:212534003G>A	uc001hjb.2	+	13	1926	c.1352G>A	c.(1351-1353)CGT>CAT	p.R451H	PPP2R5A_uc010ptd.1_Missense_Mutation_p.R392H	NM_006243	NP_006234	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B	451				R -> E (in Ref. 6; AA sequence).	negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		GAATTGGAACGTGAAGAATTA	0.343													A	212534003	G	A	212534003	3	1	109	1	0	0	0	0	1	0	0	0	12392	1145	40	1	1402	1	PPP2R5A	1	212534003	Missense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08	16328889	212534003	36716618	13	73907											
FAM71A	149647	broad.mit.edu	37	chr1	212798999	212798999	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctcaatgcatccatcccCaaaacatctacagaacttgc	5	14	2	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:212798999C>T	uc001hjk.2	+	1	1184	c.780C>T	c.(778-780)CCC>CCT	p.P260P	uc010pth.1_RNA	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	260										skin(3)|ovary(1)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CATCCATCCCCAAAACATCTA	0.383													T	212798999	C	T	212798999	2	4	109	1	0	0	0	0	0	0	0	1	5607	581	21	4		4	FAM71A	1	212798999	Silent	SNP	C	TCGA-BR-8690-01A-11D-2394-08	264996	212798999	36451622	14	73908											
OBSCN	84033	broad.mit.edu	37	chr1	228509263	228509263	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccacacatttggggacacCgaggcacaggtgggggatgc	15	11	0	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:228509263C>T	uc009xez.1	+	55	14765	c.14721C>T	c.(14719-14721)ACC>ACT	p.T4907T	OBSCN_uc001hsn.2_Silent_p.T4907T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4907	Ig-like 48.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TTGGGGACACCGAGGCACAGG	0.612													T	228509263	C	T	228509263	2	4	109	1	0	0	0	0	0	0	0	1	10812	639	23	1		1	OBSCN	1	228509263	Silent	SNP	C	TCGA-BR-8690-01A-11D-2394-08	15710264	228509263	20741358	15	73909											
ACTN2	88	broad.mit.edu	37	chr1	236917358	236917358	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccaagccaatgccattgggCcctggatccagaacaagatg	10	13	0	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:236917358C>G	uc001hyf.2	+	16	2155	c.1951C>G	c.(1951-1953)CCC>GCC	p.P651A	ACTN2_uc001hyg.2_Missense_Mutation_p.P443A|ACTN2_uc009xgi.1_Missense_Mutation_p.P651A|ACTN2_uc010pxu.1_Missense_Mutation_p.P340A|ACTN2_uc001hyh.2_Missense_Mutation_p.P339A	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	651	Spectrin 4.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGCCATTGGGCCCTGGATCCA	0.612													G	236917358	C	G	236917358	3	3	109	1	0	0	0	0	1	0	0	0	205	739	26	5	2013	5	ACTN2	1	236917358	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	8408095	236917358	12333263	16	73910											
ADAM17	6868	broad.mit.edu	37	chr2	9630307	9630307	+	Nonstop_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaagagctgagaactaaatTagcactctgtttctttgctg	9	7	2	3			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr2:9630307T>A	uc002qzu.2	-	19	2657	c.2474A>T	c.(2473-2475)TAA>TTA	p.*825L	IAH1_uc010yiz.1_Intron|ADAM17_uc010ewy.2_Nonstop_Mutation_p.*808L|ADAM17_uc010ewz.2_Nonstop_Mutation_p.*168L	NM_003183	NP_003174	P78536	ADA17_HUMAN	a disintegrin and metalloprotease domain 17	825					B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			lung(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		AGAACTAAATTAGCACTCTGT	0.408													A	9630307	T	A	9630307	4	1	109	1	0	0	0	0	0	0	0	0	238	1761	61	5	4	5	ADAM17	2	9630307	Nonstop_Mutation	SNP	T	TCGA-BR-8690-01A-11D-2394-08		9630307	233569066	17	73911											
ACTG2	72	broad.mit.edu	37	chr2	74129543	74129543	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgggggatgaggctcagagCaagcgagggatcctaactct	16	8	2	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr2:74129543C>A	uc002sjw.2	+	3	305	c.183C>A	c.(181-183)AGC>AGA	p.S61R	ACTG2_uc010fex.1_Missense_Mutation_p.S61R|ACTG2_uc010fey.2_Missense_Mutation_p.S61R|ACTG2_uc010yrn.1_Intron	NM_001615	NP_001606	P63267	ACTH_HUMAN	actin, gamma 2 propeptide	61					muscle contraction	cytoskeleton|cytosol	ATP binding				0						AGGCTCAGAGCAAGCGAGGGA	0.493													A	74129543	C	A	74129543	3	1	109	1	0	0	0	0	1	0	0	0	197	709	25	5	189	5	ACTG2	2	74129543	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	64499236	74129543	169069830	18	73912											
CTNNA2	1496	broad.mit.edu	37	chr2	80808879	80808879	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actttgagcaggaagattatGatgtgcgtagcaggacaagt	13	5	0	3			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr2:80808879G>T	uc010ysh.1	+	13	1947	c.1942G>T	c.(1942-1944)GAT>TAT	p.D648Y	CTNNA2_uc010yse.1_Missense_Mutation_p.D648Y|CTNNA2_uc010ysf.1_Missense_Mutation_p.D648Y|CTNNA2_uc010ysg.1_Missense_Mutation_p.D648Y|CTNNA2_uc010ysi.1_Missense_Mutation_p.D280Y	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	648					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						GGAAGATTATGATGTGCGTAG	0.458													T	80808879	G	T	80808879	3	4	109	1	0	0	0	0	1	0	0	0	4013	1290	45	5	1784	5	CTNNA2	2	80808879	Missense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08	6679336	80808879	162390494	19	73913											
SPOPL	339745	broad.mit.edu	37	chr2	139326567	139326567	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgattcagtctcaccctcatTtagtagcagaagcctttcga	7	11	3	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr2:139326567T>A	uc002tvh.2	+	11	1496	c.1096T>A	c.(1096-1098)TTA>ATA	p.L366I		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	366						nucleus				skin(2)|breast(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0296)		TCACCCTCATTTAGTAGCAGA	0.413													A	139326567	T	A	139326567	3	1	109	1	0	0	0	0	1	0	0	0	15084	1838	64	5	1134	5	SPOPL	2	139326567	Missense_Mutation	SNP	T	TCGA-BR-8690-01A-11D-2394-08	58517688	139326567	103872806	20	73914											
SLC4A10	57282	broad.mit.edu	37	chr2	162821608	162821608	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgatggacttgttgttcacGaagcgggaactcagctggtt	13	7	2	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr2:162821608G>A	uc002ubx.3	+	23	3268	c.3084G>A	c.(3082-3084)ACG>ACA	p.T1028T	SLC4A10_uc002uby.3_Silent_p.T998T|SLC4A10_uc010zcs.1_Silent_p.T1009T	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	1028	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						TGTTGTTCACGAAGCGGGAAC	0.353													A	162821608	G	A	162821608	2	1	109	1	0	0	0	0	0	0	0	1	14651	1045	37	1		1	SLC4A10	2	162821608	Silent	SNP	G	TCGA-BR-8690-01A-11D-2394-08	23495041	162821608	80377765	21	73915											
TTN	7273	broad.mit.edu	37	chr2	179486701	179486702	+	Frame_Shift_Del	DEL	TT	TT	-													tgatgtcatattttttgcccTttttaatttcagcaccatct							TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr2:179486701_179486702delTT	uc010zfg.1	-	193	37467_37468	c.37243_37244delAA	c.(37243-37245)AAGfs	p.K12415fs	TTN_uc010zfh.1_Frame_Shift_Del_p.K6110fs|TTN_uc010zfi.1_Frame_Shift_Del_p.K6043fs|TTN_uc010zfj.1_Frame_Shift_Del_p.K5918fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13342							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTTGCCCTTTTTAATTTCA	0.347													-	179486702	TT	-	179486701	7	5	109	1	0	1	0	1	0	0	0	0	16732	1609	56	0	63221	0	TTN	2	179486701	Frame_Shift_Del	DEL	TT	TCGA-BR-8690-01A-11D-2394-08	16665093	179486701	63712672	22	73916											
TTN	7273	broad.mit.edu	37	chr2	179584365	179584365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taatcctttgtcactcatttCggcacaggggattttaaggg	10	8	2	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr2:179584365C>T	uc010zfg.1	-	79	20346	c.20122G>A	c.(20122-20124)GAA>AAA	p.E6708K	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3369K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7635							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACTCATTTCGGCACAGGGG	0.403													T	179584365	C	T	179584365	3	4	109	1	0	0	0	0	1	0	0	0	16732	893	31	1	80799	1	TTN	2	179584365	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	97664	179584365	63615008	23	73917											
HSPD1	3329	broad.mit.edu	37	chr2	198362005	198362005	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaacatcttgaacaagttTagctccaatgtttttgtatt	7	7	1	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr2:198362005T>C	uc002uui.2	-	3	423	c.286A>G	c.(286-288)AAA>GAA	p.K96E	HSPD1_uc002uuj.2_Missense_Mutation_p.K96E|HSPD1_uc010zgx.1_Missense_Mutation_p.K96E|HSPD1_uc010fsm.2_Intron|HSPD1_uc002uuk.2_Missense_Mutation_p.K96E|HSPD1_uc010zgy.1_Missense_Mutation_p.K96E|HSPE1_uc002uul.2_5'Flank	NM_002156	NP_002147	P10809	CH60_HUMAN	chaperonin	96					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding				0			Epithelial(96;0.225)			TGAACAAGTTTAGCTCCAATG	0.413													C	198362005	T	C	198362005	3	2	109	1	0	0	0	0	1	0	0	0	7428	1763	61	3	1475	3	HSPD1	2	198362005	Missense_Mutation	SNP	T	TCGA-BR-8690-01A-11D-2394-08	18777640	198362005	44837368	24	73918											
PARD3B	117583	broad.mit.edu	37	chr2	206165334	206165335	+	Frame_Shift_Ins	INS	-	-	GA													tctgcagactgcagtggccgINSaggtcaggaagaatgacctt							TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr2:206165333_206165334C>CGA	uc002var.2	+	16	2472_2473	c.2265_2266C>CGA	c.(2263-2268)gccgagfs	p.A755fs	PARD3B_uc010fub.2_Frame_Shift_Ins_p.A755fs|PARD3B_uc002vao.2_Frame_Shift_Ins_p.A755fs|PARD3B_uc002vap.2_Frame_Shift_Ins_p.A693fs|PARD3B_uc002vaq.2_Intron	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	755					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CTGCAGTGGCCGAGGTCAGGAA	0.515													GA	206165335	-	GA	206165334	7	5	109	1	0	1	1	0	0	0	0	0	11444	1059	37	0	2332	0	PARD3B	2	206165334	Frame_Shift_Ins	INS	-	TCGA-BR-8690-01A-11D-2394-08	7803329	206165334	37034039	25	73919											
ERBB4	2066	broad.mit.edu	37	chr2	212286786	212286786	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccttgaaaactcagcagcCagttccttaaatttaggtct	6	10	2	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr2:212286786C>T	uc002veg.1	-	24	3008	c.2910G>A	c.(2908-2910)CTG>CTA	p.L970L	ERBB4_uc002veh.1_Silent_p.L970L|ERBB4_uc010zji.1_Silent_p.L960L|ERBB4_uc010zjj.1_Silent_p.L960L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	970	Protein kinase.|Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACTCAGCAGCCAGTTCCTTAA	0.393										TSP Lung(8;0.080)			T	212286786	C	T	212286786	2	4	109	1	0	0	0	0	0	0	0	1	5209	581	21	4		4	ERBB4	2	212286786	Silent	SNP	C	TCGA-BR-8690-01A-11D-2394-08	6121452	212286786	30912587	26	73920											
SPEG	10290	broad.mit.edu	37	chr2	220355285	220355285	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgagcggatcatgtccctgCacgaggcctacatcacccct	9	16	2	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr2:220355285C>A	uc010fwg.2	+	37	9076	c.9076C>A	c.(9076-9078)CAC>AAC	p.H3026N		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	3026	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CATGTCCCTGCACGAGGCCTA	0.627													A	220355285	C	A	220355285	3	1	109	1	0	0	0	0	1	0	0	0	15035	710	25	5	9234	5	SPEG	2	220355285	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	8068499	220355285	22844088	27	73921											
EPHA3	2042	broad.mit.edu	37	chr3	89456511	89456511	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactgttgtcatctatgttTtgattgggaggtgagttcac	11	6	4	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr3:89456511T>G	uc003dqy.2	+	8	1912	c.1687T>G	c.(1687-1689)TTG>GTG	p.L563V	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	563	Helical; (Potential).					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CATCTATGTTTTGATTGGGAG	0.428										TSP Lung(6;0.00050)			G	89456511	T	G	89456511	3	3	109	1	0	0	0	0	1	0	0	0	5168	1838	64	5	1743	5	EPHA3	3	89456511	Missense_Mutation	SNP	T	TCGA-BR-8690-01A-11D-2394-08		89456511	108565919	28	73922											
ARHGAP31	57514	broad.mit.edu	37	chr3	119133443	119133443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagccttcagactgtgaCgaagatgacactgtgacaga	12	9	1	6	rs140312580	by1000genomes	TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr3:119133443C>T	uc003ecj.3	+	12	3199	c.2667C>T	c.(2665-2667)GAC>GAT	p.D889D		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	889					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						CAGACTGTGACGAAGATGACA	0.562													T	119133443	C	T	119133443	2	4	109	1	0	0	0	0	0	0	0	1	880	535	19	1		1	ARHGAP31	3	119133443	Silent	SNP	C	TCGA-BR-8690-01A-11D-2394-08	29676932	119133443	78888987	29	73923											
ARHGAP31	57514	broad.mit.edu	37	chr3	119133998	119133998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaaggagagttcacccagCgtgcaggacagcacttcgcc	12	13	1	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr3:119133998C>T	uc003ecj.3	+	12	3754	c.3222C>T	c.(3220-3222)AGC>AGT	p.S1074S		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	1074					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						GTTCACCCAGCGTGCAGGACA	0.577													T	119133998	C	T	119133998	2	4	109	1	0	0	0	0	0	0	0	1	880	767	27	1		1	ARHGAP31	3	119133998	Silent	SNP	C	TCGA-BR-8690-01A-11D-2394-08	555	119133998	78888432	30	73924											
NEK11	79858	broad.mit.edu	37	chr3	130887684	130887684	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctctttaggaaaaaacacAtttaaaaggaatggaagaaa	7	4	1	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr3:130887684A>G	uc003eny.2	+	13	1513	c.1187A>G	c.(1186-1188)CAT>CGT	p.H396R	NEK11_uc003enx.2_Missense_Mutation_p.H396R|NEK11_uc003eoa.2_Missense_Mutation_p.H396R|NEK11_uc003enz.2_Missense_Mutation_p.H214R|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_Intron|NEK11_uc011bll.1_Missense_Mutation_p.H291R|NEK11_uc011blm.1_Missense_Mutation_p.H396R	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11 isoform 1	396					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(4)|stomach(1)|central_nervous_system(1)	6						GAAAAAACACATTTAAAAGGA	0.453													G	130887684	A	G	130887684	3	3	109	1	0	0	0	0	1	0	0	0	10323	217	8	3	1229	3	NEK11	3	130887684	Missense_Mutation	SNP	A	TCGA-BR-8690-01A-11D-2394-08	11753686	130887684	67134746	31	73925											
XRN1	54464	broad.mit.edu	37	chr3	142048403	142048403	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggccaacacatattgtccAtagactgaacattatggtac	7	10	0	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr3:142048403A>G	uc003eus.2	-	37	4341	c.4274T>C	c.(4273-4275)ATG>ACG	p.M1425T	XRN1_uc010huu.2_Missense_Mutation_p.M892T|XRN1_uc003eut.2_Missense_Mutation_p.M1425T|XRN1_uc003euu.2_Missense_Mutation_p.M1426T	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	1425					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						CATATTGTCCATAGACTGAAC	0.398													G	142048403	A	G	142048403	3	3	109	1	0	0	0	0	1	0	0	0	17456	217	8	3	870	3	XRN1	3	142048403	Missense_Mutation	SNP	A	TCGA-BR-8690-01A-11D-2394-08	11160719	142048403	55974027	32	73926											
SI	6476	broad.mit.edu	37	chr3	164712098	164712098	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttagcatgaatttcatgcatTtgtgtgtaaaaatagggcaa	9	4	1	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr3:164712098T>A	uc003fei.2	-	41	4850	c.4788A>T	c.(4786-4788)CAA>CAT	p.Q1596H		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1596	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTTCATGCATTTGTGTGTAAA	0.363										HNSCC(35;0.089)			A	164712098	T	A	164712098	3	1	109	1	0	0	0	0	1	0	0	0	14297	1838	64	5	727	5	SI	3	164712098	Missense_Mutation	SNP	T	TCGA-BR-8690-01A-11D-2394-08	22663695	164712098	33310332	33	73927											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107560	6107560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgccggatgagcccctcGcgcagcgcctgcagctcctt	12	17	0	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:6107560G>A	uc003giu.3	-	3	540	c.264C>T	c.(262-264)CGC>CGT	p.R88R	JAKMIP1_uc010idb.1_Silent_p.R88R|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Silent_p.R88R|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Silent_p.R88R|JAKMIP1_uc010ide.2_Silent_p.R88R	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	88	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						TGAGCCCCTCGCGCAGCGCCT	0.682													A	6107560	G	A	6107560	2	1	109	1	0	0	0	0	0	0	0	1	7940	1074	38	1		1	JAKMIP1	4	6107560	Silent	SNP	G	TCGA-BR-8690-01A-11D-2394-08		6107560	185046716	34	73928											
SLIT2	9353	broad.mit.edu	37	chr4	20618788	20618788	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atggatggggcccctctgtgAccaacggaccaatgaccctt	11	13	1	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:20618788A>T	uc003gpr.1	+	35	4307	c.4103A>T	c.(4102-4104)GAC>GTC	p.D1368V	SLIT2_uc003gps.1_Missense_Mutation_p.D1360V	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1368	EGF-like 7.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						CCCCTCTGTGACCAACGGACC	0.562													T	20618788	A	T	20618788	3	4	109	1	0	0	0	0	1	0	0	0	14740	275	10	5	4241	5	SLIT2	4	20618788	Missense_Mutation	SNP	A	TCGA-BR-8690-01A-11D-2394-08	14511228	20618788	170535488	35	73929											
GABRG1	2565	broad.mit.edu	37	chr4	46067511	46067511	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatttttccaaccatatTactgttaagcataagcactt	3	10	0	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:46067511T>C	uc003gxb.2	-	4	564	c.412A>G	c.(412-414)AAT>GAT	p.N138D		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	138	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CCAACCATATTACTGTTAAGC	0.328													C	46067511	T	C	46067511	3	2	109	1	0	0	0	0	1	0	0	0	6171	1754	61	3	1009	3	GABRG1	4	46067511	Missense_Mutation	SNP	T	TCGA-BR-8690-01A-11D-2394-08	25448723	46067511	145086765	36	73930											
GABRB1	2560	broad.mit.edu	37	chr4	47033961	47033961	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccagcaacatgtcatacgtGaaagagacagtggacagatt	10	9	1	3			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:47033961G>A	uc003gxh.2	+	2	485	c.111G>A	c.(109-111)GTG>GTA	p.V37V	GABRB1_uc011bze.1_5'UTR|GABRB1_uc011bzd.1_Silent_p.V37V|GABRB1_uc010igg.2_RNA	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	37	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGTCATACGTGAAAGAGACAG	0.448													A	47033961	G	A	47033961	2	1	109	1	0	0	0	0	0	0	0	1	6166	1277	45	4		4	GABRB1	4	47033961	Silent	SNP	G	TCGA-BR-8690-01A-11D-2394-08	966450	47033961	144120315	37	73931											
UGT2B28	54490	broad.mit.edu	37	chr4	70146542	70146543	+	Frame_Shift_Ins	INS	-	-	G													aagatagcttttggttatatINSttttcacaagaacaagaaat							TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:70146541_70146542A>AG	uc003hej.3	+	0	325_326	c.323_324A>AG	c.(322-324)tatfs	p.Y108fs	UGT2B28_uc010ihr.3_Frame_Shift_Ins_p.Y108fs	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	108					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.L107_Y108>FH(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TTTTGGTTATATTTTTCACAAG	0.292													G	70146543	-	G	70146542	7	5	109	1	0	1	1	0	0	0	0	0	16957	1500	52	0	326	0	UGT2B28	4	70146542	Frame_Shift_Ins	INS	-	TCGA-BR-8690-01A-11D-2394-08	23112581	70146542	121007734	38	73932											
RUFY3	22902	broad.mit.edu	37	chr4	71654634	71654634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggatgccctggtatctcttCggcagcagctggatgacctc	12	12	1	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:71654634C>T	uc003hfq.2	+	11	1778	c.1183C>T	c.(1183-1185)CGG>TGG	p.R395W	RUFY3_uc003hfp.3_Missense_Mutation_p.R455W|RUFY3_uc011cax.1_Missense_Mutation_p.R413W|RUFY3_uc003hfr.2_Missense_Mutation_p.R395W|RUFY3_uc011cay.1_Missense_Mutation_p.R331W	NM_014961	NP_055776	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3 isoform 2	395	Potential.				negative regulation of axonogenesis	filopodium|growth cone					0		all_hematologic(202;0.248)	Lung(101;0.235)			GGTATCTCTTCGGCAGCAGCT	0.493													T	71654634	C	T	71654634	3	4	109	1	0	0	0	0	1	0	0	0	13740	875	31	1	1587	1	RUFY3	4	71654634	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	1508092	71654634	119499642	39	73933											
PPEF2	5470	broad.mit.edu	37	chr4	76794425	76794425	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatagtgttggccttgcagCcctcttgagccatgggatca	12	10	2	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:76794425C>A	uc003hix.2	-	12	1718	c.1361G>T	c.(1360-1362)GGC>GTC	p.G454V	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.G454V	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	454	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGCCTTGCAGCCCTCTTGAGC	0.443													A	76794425	C	A	76794425	3	1	109	1	0	0	0	0	1	0	0	0	12308	739	26	5	924	5	PPEF2	4	76794425	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	5139791	76794425	114359851	40	73934											
ARHGAP24	83478	broad.mit.edu	37	chr4	86863309	86863309	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttggtggagcagtgcgtggActttatccgacaaagggggc	17	7	0	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:86863309A>T	uc003hpk.2	+	5	931	c.482A>T	c.(481-483)GAC>GTC	p.D161V	ARHGAP24_uc003hpj.2_Missense_Mutation_p.D161V|ARHGAP24_uc003hpl.2_Missense_Mutation_p.D66V|ARHGAP24_uc010ikf.2_Missense_Mutation_p.D76V|ARHGAP24_uc003hpm.2_Missense_Mutation_p.D68V	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	161	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CAGTGCGTGGACTTTATCCGA	0.488													T	86863309	A	T	86863309	3	4	109	1	0	0	0	0	1	0	0	0	873	275	10	5	612	5	ARHGAP24	4	86863309	Missense_Mutation	SNP	A	TCGA-BR-8690-01A-11D-2394-08	10068884	86863309	104290967	41	73935											
ARHGAP24	83478	broad.mit.edu	37	chr4	86863412	86863412	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctttgactgtggggagaaGccatcatttgacaggtagat	13	7	1	4			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:86863412G>T	uc003hpk.2	+	5	1034	c.585G>T	c.(583-585)AAG>AAT	p.K195N	ARHGAP24_uc003hpj.2_Missense_Mutation_p.K195N|ARHGAP24_uc003hpl.2_Missense_Mutation_p.K100N|ARHGAP24_uc010ikf.2_Missense_Mutation_p.K110N|ARHGAP24_uc003hpm.2_Missense_Mutation_p.K102N	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	195	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GTGGGGAGAAGCCATCATTTG	0.473													T	86863412	G	T	86863412	3	4	109	1	0	0	0	0	1	0	0	0	873	962	34	5	715	5	ARHGAP24	4	86863412	Missense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08	103	86863412	104290864	42	73936											
ARHGAP24	83478	broad.mit.edu	37	chr4	86921732	86921732	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgatagaaataaaaatgCgaaatgccgagcgagcaaaa	9	6	0	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:86921732C>T	uc003hpk.2	+	10	2553	c.2104C>T	c.(2104-2106)CGA>TGA	p.R702*	ARHGAP24_uc003hpl.2_Nonsense_Mutation_p.R607*|ARHGAP24_uc010ikf.2_Nonsense_Mutation_p.R617*|ARHGAP24_uc003hpm.2_Nonsense_Mutation_p.R609*	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	702	Potential.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AATAAAAATGCGAAATGCCGA	0.403													T	86921732	C	T	86921732	4	4	109	1	0	0	0	0	0	1	0	0	873	760	27	1	2254	1	ARHGAP24	4	86921732	Nonsense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	58320	86921732	104232544	43	73937											
NHEDC1	150159	broad.mit.edu	37	chr4	103912856	103912856	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaatgttcattttttgattCtgtggtatgcatgctaagat	8	5	2	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:103912856C>A	uc003hww.2	-	2	135	c.13G>T	c.(13-15)GAA>TAA	p.E5*	NHEDC1_uc003hwu.2_Nonsense_Mutation_p.E5*|NHEDC1_uc010ilm.2_5'UTR|NHEDC1_uc003hwv.2_RNA|NHEDC1_uc011cev.1_5'UTR	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	5						integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)		TTTTTTGATTCTGTGGTATGC	0.269													A	103912856	C	A	103912856	4	1	109	1	0	0	0	0	0	1	0	0	10400	922	32	5	1678	5	NHEDC1	4	103912856	Nonsense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	16991124	103912856	87241420	44	73938											
ANK2	287	broad.mit.edu	37	chr4	114267061	114267061	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttcttgttcaaggtacgCgatacgactcaggaaccttg	9	10	4	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:114267061C>T	uc003ibe.3	+	35	4354	c.4254C>T	c.(4252-4254)CGC>CGT	p.R1418R	ANK2_uc003ibd.3_Silent_p.R1409R|ANK2_uc003ibf.3_Silent_p.R1418R|ANK2_uc011cgc.1_Silent_p.R594R|ANK2_uc003ibg.3_Silent_p.R413R|ANK2_uc003ibh.3_Silent_p.R92R|ANK2_uc011cgb.1_Silent_p.R1433R	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1385					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)		TCAAGGTACGCGATACGACTC	0.393													T	114267061	C	T	114267061	2	4	109	1	0	0	0	0	0	0	0	1	621	755	27	1		1	ANK2	4	114267061	Silent	SNP	C	TCGA-BR-8690-01A-11D-2394-08	10354205	114267061	76887215	45	73939											
KIAA1109	84162	broad.mit.edu	37	chr4	123271022	123271022	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatgctctagtgagattttcGtccatggagatttgaagtgg	12	5	1	3			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:123271022G>T	uc003ieh.2	+	78	13687	c.13642G>T	c.(13642-13644)GTC>TTC	p.V4548F	KIAA1109_uc003iem.2_Missense_Mutation_p.V904F	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4548					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TGAGATTTTCGTCCATGGAGA	0.368													T	123271022	G	T	123271022	3	4	109	1	0	0	0	0	1	0	0	0	8208	1145	40	5	13952	5	KIAA1109	4	123271022	Missense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08	9003961	123271022	67883254	46	73940											
FAT4	79633	broad.mit.edu	37	chr4	126370306	126370306	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaaattgttaatggcaacaTggaaaatagtttcagtatca	8	4	2	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:126370306T>A	uc003ifj.3	+	9	8135	c.8135T>A	c.(8134-8136)ATG>AAG	p.M2712K	FAT4_uc011cgp.1_Missense_Mutation_p.M1010K|FAT4_uc003ifi.1_Missense_Mutation_p.M190K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2712	Cadherin 26.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AATGGCAACATGGAAAATAGT	0.373													A	126370306	T	A	126370306	3	1	109	1	0	0	0	0	1	0	0	0	5692	1464	51	5	8169	5	FAT4	4	126370306	Missense_Mutation	SNP	T	TCGA-BR-8690-01A-11D-2394-08	3099284	126370306	64783970	47	73941											
TKTL2	84076	broad.mit.edu	37	chr4	164393459	164393459	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgcagtttctggttggctGgttcgaatgaagcacattcc	11	9	1	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:164393459G>T	uc003iqp.3	-	1	1589	c.1428C>A	c.(1426-1428)ACC>ACA	p.T476T		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	476						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTGGTTGGCTGGTTCGAATGA	0.448													T	164393459	G	T	164393459	2	4	109	1	0	0	0	0	0	0	0	1	15933	1335	47	5		5	TKTL2	4	164393459	Silent	SNP	G	TCGA-BR-8690-01A-11D-2394-08	38023153	164393459	26760817	48	73942											
TLL1	7092	broad.mit.edu	37	chr4	166795130	166795130	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gattgttttctacggggagcTatgggtctgcgctggcctcg	15	9	2	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:166795130T>A	uc003irh.1	+	1	721	c.74T>A	c.(73-75)CTA>CAA	p.L25Q	TLL1_uc011cjn.1_Missense_Mutation_p.L25Q|TLL1_uc011cjo.1_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	25					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TACGGGGAGCTATGGGTCTGC	0.542													A	166795130	T	A	166795130	3	1	109	1	0	0	0	0	1	0	0	0	15942	1522	53	5	76	5	TLL1	4	166795130	Missense_Mutation	SNP	T	TCGA-BR-8690-01A-11D-2394-08	2401671	166795130	24359146	49	73943											
AADAT	51166	broad.mit.edu	37	chr4	170985953	170985953	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccataaaaacattccagcagCaggaacatgccattctgcca	6	13	1	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:170985953C>G	uc003isr.2	-	11	1393	c.1051G>C	c.(1051-1053)GCT>CCT	p.A351P	AADAT_uc003iss.2_Missense_Mutation_p.A351P|AADAT_uc003ist.2_Missense_Mutation_p.A355P	NM_016228	NP_057312	Q8N5Z0	AADAT_HUMAN	kynurenine aminotransferase II	351					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity				0		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATTCCAGCAGCAGGAACATGC	0.368													G	170985953	C	G	170985953	3	3	109	1	0	0	0	0	1	0	0	0	14	710	25	5	238	5	AADAT	4	170985953	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	4190823	170985953	20168323	50	73944											
HTR1A	3350	broad.mit.edu	37	chr5	63256773	63256773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctccagttcctgctcccCgactctccattcacactctt	4	19	3	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr5:63256773C>T	uc011cqt.1	-	1	774	c.774G>A	c.(772-774)TCG>TCA	p.S258S		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	258	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TCCTGCTCCCCGACTCTCCAT	0.657													T	63256773	C	T	63256773	2	4	109	1	0	0	0	0	0	0	0	1	7436	639	23	1		1	HTR1A	5	63256773	Silent	SNP	C	TCGA-BR-8690-01A-11D-2394-08		63256773	117658487	51	73945											
SLCO6A1	133482	broad.mit.edu	37	chr5	101709135	101709135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcagtgttctcatttagaCgacgtttgtatatgaaaaat	8	5	2	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr5:101709135C>T	uc003knn.2	-	13	2253	c.2081G>A	c.(2080-2082)CGT>CAT	p.R694H	SLCO6A1_uc003kno.2_Missense_Mutation_p.R441H|SLCO6A1_uc003knp.2_Missense_Mutation_p.R694H|SLCO6A1_uc003knq.2_Missense_Mutation_p.R632H	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	694	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CTCATTTAGACGACGTTTGTA	0.323													T	101709135	C	T	101709135	3	4	109	1	0	0	0	0	1	0	0	0	14732	536	19	1	82	1	SLCO6A1	5	101709135	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	38452362	101709135	79206125	52	73946											
SPARC	6678	broad.mit.edu	37	chr5	151051184	151051184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtggggtcctggcacaCgcacatgggggtgttgttct	17	9	1	0	rs142207246		TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr5:151051184C>T	uc003luh.2	-	4	304	c.280G>A	c.(280-282)GTG>ATG	p.V94M	GM2A_uc011dcs.1_Intron|SPARC_uc003lug.2_Intron|SPARC_uc003lui.2_Missense_Mutation_p.V94M	NM_003118	NP_003109	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich	94	Kazal-like.				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(1)	1		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	TCCTGGCACACGCACATGGGG	0.597													T	151051184	C	T	151051184	3	4	109	1	0	0	0	0	1	0	0	0	14994	536	19	1	655	1	SPARC	5	151051184	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	49342049	151051184	29864076	53	73947											
DOCK2	1794	broad.mit.edu	37	chr5	169188588	169188588	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccagaagcagaaagtacagtCtatgaatgagatagtccaga	10	7	1	5			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr5:169188588C>A	uc003maf.2	+	25	2593	c.2513C>A	c.(2512-2514)TCT>TAT	p.S838Y	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.S330Y	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	838					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAGTACAGTCTATGAATGAG	0.483													A	169188588	C	A	169188588	3	1	109	1	0	0	0	0	1	0	0	0	4687	913	32	5	2611	5	DOCK2	5	169188588	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	18137404	169188588	11726672	54	73948											
TRIM27	5987	broad.mit.edu	37	chr6	28872099	28872099	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccacccgctggagcggggtCcgcaggggtagggcagtcat	17	13	1	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr6:28872099C>T	uc003nlr.2	-	8	1649	c.1290G>A	c.(1288-1290)CGG>CGA	p.R430R	TRIM27_uc003nls.2_Intron|TRIM27_uc003nlt.1_3'UTR	NM_006510	NP_006501	P14373	TRI27_HUMAN	ret finger protein	430	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			ovary(1)	1						GGAGCGGGGTCCGCAGGGGTA	0.537			T	RET	papillary thyroid								T	28872099	C	T	28872099	2	4	109	1	0	0	0	0	0	0	0	1	16498	842	30	4		4	TRIM27	6	28872099	Silent	SNP	C	TCGA-BR-8690-01A-11D-2394-08		28872099	142242968	55	73949											
DHX16	8449	broad.mit.edu	37	chr6	30638885	30638885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcttcctgaggtgtttcCgctttttacgtttcttctgg	9	10	3	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr6:30638885C>T	uc003nqz.2	-	2	586	c.374G>A	c.(373-375)CGG>CAG	p.R125Q	DHX16_uc011dmo.1_Missense_Mutation_p.R65Q	NM_003587	NP_003578	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	125					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(2)|kidney(2)	4						GAGGTGTTTCCGCTTTTTACG	0.488													T	30638885	C	T	30638885	3	4	109	1	0	0	0	0	1	0	0	0	4502	652	23	1	2827	1	DHX16	6	30638885	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	1766786	30638885	140476182	56	73950											
FRS3	10817	broad.mit.edu	37	chr6	41738614	41738614	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgccttgggggctcgggccCcggccggcggaaatcaaagt	16	13	1	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr6:41738614C>A	uc003orc.1	-	7	1466	c.1222G>T	c.(1222-1224)GGG>TGG	p.G408W		NM_006653	NP_006644	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	408					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			ovary(2)	2	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCTCGGGCCCCGGCCGGCGG	0.687													A	41738614	C	A	41738614	3	1	109	1	0	0	0	0	1	0	0	0	6062	623	22	5	260	5	FRS3	6	41738614	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	11099729	41738614	129376453	57	73951											
AARS2	57505	broad.mit.edu	37	chr6	44270564	44270564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctgctccccagtgacgGccagcaggcgggtagtgccc	16	15	0	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr6:44270564G>A	uc010jza.1	-	17	2342	c.2339C>T	c.(2338-2340)GCC>GTC	p.A780V	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	780					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CCCAGTGACGGCCAGCAGGCG	0.627													A	44270564	G	A	44270564	3	1	109	1	0	0	0	0	1	0	0	0	20	1203	42	2	642	2	AARS2	6	44270564	Missense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08	2531950	44270564	126844503	58	73952											
KCNQ5	56479	broad.mit.edu	37	chr6	73900347	73900347	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttaaggaaacattacgtccAtatgatgtaaaagatgtcat	7	5	1	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr6:73900347A>T	uc003pgk.2	+	12	1976	c.1629A>T	c.(1627-1629)CCA>CCT	p.P543P	KCNQ5_uc011dyh.1_Silent_p.P562P|KCNQ5_uc011dyi.1_Silent_p.P553P|KCNQ5_uc010kat.2_Silent_p.P534P|KCNQ5_uc011dyj.1_Silent_p.P433P|KCNQ5_uc011dyk.1_Silent_p.P293P	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	543					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CATTACGTCCATATGATGTAA	0.303													T	73900347	A	T	73900347	2	4	109	1	0	0	0	0	0	0	0	1	8086	204	8	5		5	KCNQ5	6	73900347	Silent	SNP	A	TCGA-BR-8690-01A-11D-2394-08	29629783	73900347	97214720	59	73953											
FILIP1	27145	broad.mit.edu	37	chr6	76022220	76022222	+	In_Frame_Del	DEL	GAA	GAA	-													gaggtgattcctgggagagcGaaggacagtgccggtggaaa							TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr6:76022219_76022221CGAA>C	uc010kbe.3	-	5	3866_3868	c.3336_3338TTCG>G	c.(3334-3339)cttcgc>ctGc	p.R1113del	FILIP1_uc003phy.1_In_Frame_Del_p.R1110del|FILIP1_uc003phz.3_In_Frame_Del_p.R1011del|FILIP1_uc003pia.3_In_Frame_Del_p.R1110del|FILIP1_uc003pib.1_In_Frame_Del_p.R862del	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	1110										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCTGGGAGAGCGAAGGACAGTGC	0.552													-	76022222	GAA	-	76022220	7	5	109	1	0	1	0	1	0	0	0	0	5894	1058	37	0	321	0	FILIP1	6	76022220	In_Frame_Del	DEL	GAA	TCGA-BR-8690-01A-11D-2394-08	2121873	76022220	95092847	60	73954											
CCNC	892	broad.mit.edu	37	chr6	100009499	100009499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaatctcttgaaatatacCgtagcagtggcaataacttg	8	7	1	2	rs142699138		TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr6:100009499C>T	uc003pqe.2	-	3	485	c.198G>A	c.(196-198)ACG>ACA	p.T66T	uc003pqc.2_Intron|CCNC_uc003pqd.2_5'UTR|CCNC_uc010kcr.2_RNA|CCNC_uc010kcs.2_Silent_p.T66T|CCNC_uc011eah.1_5'UTR|CCNC_uc003pqf.2_Silent_p.T66T	NM_005190	NP_005181	P24863	CCNC_HUMAN	cyclin C isoform a	66	Cyclin N-terminal.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding				0		all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		TGAAATATACCGTAGCAGTGG	0.299													T	100009499	C	T	100009499	2	4	109	1	0	0	0	0	0	0	0	1	2915	639	23	1		1	CCNC	6	100009499	Silent	SNP	C	TCGA-BR-8690-01A-11D-2394-08	23987279	100009499	71105568	61	73955											
TPD52L1	7164	broad.mit.edu	37	chr6	125584070	125584070	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccagagcttggcaggaGgctcccggcggaccaaggag	17	12	0	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr6:125584070G>C	uc003pzu.1	+	7	796	c.577G>C	c.(577-579)GGC>CGC	p.G193R	TPD52L1_uc003pzv.1_3'UTR|TPD52L1_uc003pzw.1_3'UTR|TPD52L1_uc003pzy.1_Missense_Mutation_p.G164R|TPD52L1_uc003pzz.1_3'UTR	NM_003287	NP_003278	Q16890	TPD53_HUMAN	tumor protein D52-like 1 isoform 1	193					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		CTTGGCAGGAGGCTCCCGGCG	0.612													C	125584070	G	C	125584070	3	2	109	1	0	0	0	0	1	0	0	0	16395	1000	35	5	603	5	TPD52L1	6	125584070	Missense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08	25574571	125584070	45530997	62	73956											
TRMT11	60487	broad.mit.edu	37	chr6	126329563	126329563	+	Frame_Shift_Del	DEL	T	T	-													ctgctgatagcatgtgctcaTtttggtgcatatgtgtatgg							TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr6:126329562_126329562AT>A	uc003qam.3	+	7	825	c.704_704AT>A	c.(703-705)catfs	p.H235fs	TRMT11_uc003qan.3_Non-coding_Transcript|TRMT11_uc010kev.3_Frame_Shift_Del_p.H235fs	NM_001031712	NP_001026882	Q7Z4G4	TRM11_HUMAN	Homo sapiens tRNA methyltransferase 11 homolog (S. cerevisiae) (TRMT11), mRNA.	235					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		GCATGTGCTCATTTTGGTGCA	0.413													-	126329563	T	-	126329563	7	5	109	1	0	1	0	1	0	0	0	0	16559	1490	52	0	735	0	TRMT11	6	126329563	Frame_Shift_Del	DEL	T	TCGA-BR-8690-01A-11D-2394-08	745493	126329563	44785504	63	73957											
C6orf174	387104	broad.mit.edu	37	chr6	127796864	127796864	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccttcgcgcttgcggtgCggaggccgcgagtcgtcgtc	17	14	0	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr6:127796864C>T	uc003qbd.2	-	6	3172	c.2307G>A	c.(2305-2307)CCG>CCA	p.P769P	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	769						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		GCTTGCGGTGCGGAGGCCGCG	0.731													T	127796864	C	T	127796864	2	4	109	1	0	0	0	0	0	0	0	1	2345	755	27	1		1	C6orf174	6	127796864	Silent	SNP	C	TCGA-BR-8690-01A-11D-2394-08	1467301	127796864	43318203	64	73958											
PCLO	27445	broad.mit.edu	37	chr7	82579130	82579130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctctaaaggtgttgggcGtttcttgtctttgggtggag	14	5	3	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr7:82579130G>A	uc003uhx.2	-	6	11063	c.10774C>T	c.(10774-10776)CGC>TGC	p.R3592C	PCLO_uc003uhv.2_Missense_Mutation_p.R3592C|PCLO_uc010lec.2_Missense_Mutation_p.R557C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3523					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GGTGTTGGGCGTTTCTTGTCT	0.483													A	82579130	G	A	82579130	3	1	109	1	0	0	0	0	1	0	0	0	11583	1145	40	1	4751	1	PCLO	7	82579130	Missense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08		82579130	76559533	65	73959											
ABCB1	5243	broad.mit.edu	37	chr7	87179782	87179782	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattaatcatttatcactgtAccttaacttcttttcgagat	4	8	3	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr7:87179782A>G	uc003uiz.1	-	12	1642	c.1224_splice	c.e12+1	p.K408_splice	ABCB1_uc011khc.1_Splice_Site_p.K344_splice	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1						G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTATCACTGTACCTTAACTTC	0.313													G	87179782	A	G	87179782	5	3	109	1	0	0	0	0	0	0	1	0	40	405	14	3	2688	3	ABCB1	7	87179782	Splice_Site	SNP	A	TCGA-BR-8690-01A-11D-2394-08	4600652	87179782	71958881	66	73960											
CCDC132	55610	broad.mit.edu	37	chr7	92887535	92887535	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttcttgcaaatcaaaggAaacgtcagttgctgattgga	10	8	3	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr7:92887535A>G	uc003umo.2	+	7	615	c.487A>G	c.(487-489)AAA>GAA	p.K163E	CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.K133E|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Missense_Mutation_p.K163E	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132 isoform a	163											0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AAATCAAAGGAAACGTCAGTT	0.308													G	92887535	A	G	92887535	3	3	109	1	0	0	0	0	1	0	0	0	2767	247	9	3	513	3	CCDC132	7	92887535	Missense_Mutation	SNP	A	TCGA-BR-8690-01A-11D-2394-08	5707753	92887535	66251128	67	73961											
OR2AE1	81392	broad.mit.edu	37	chr7	99473925	99473925	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaccaaagagaaaccaccgtGaggtgggagccacaagtggc	13	10	0	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr7:99473925G>T	uc003usc.1	-	1	732	c.732C>A	c.(730-732)CTC>CTA	p.L244L		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE,	244	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AAACCACCGTGAGGTGGGAGC	0.478													T	99473925	G	T	99473925	2	4	109	1	0	0	0	0	0	0	0	1	10983	1277	45	5		5	OR2AE1	7	99473925	Silent	SNP	G	TCGA-BR-8690-01A-11D-2394-08	6586390	99473925	59664738	68	73962											
CUX1	1523	broad.mit.edu	37	chr7	101821910	101821910	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctcacagcttgagcagcaGctgagcgccaaaaacagcac	9	13	1	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr7:101821910G>T	uc003uyx.3	+	11	1028	c.990G>T	c.(988-990)CAG>CAT	p.Q330H	CUX1_uc003uys.3_Missense_Mutation_p.Q341H|CUX1_uc003uyt.2_Missense_Mutation_p.Q341H|CUX1_uc011kkn.1_Missense_Mutation_p.Q302H|CUX1_uc003uyw.2_Missense_Mutation_p.Q295H|CUX1_uc003uyv.2_Missense_Mutation_p.Q325H|CUX1_uc003uyu.2_Missense_Mutation_p.Q339H	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	330	Potential.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						TTGAGCAGCAGCTGAGCGCCA	0.647													T	101821910	G	T	101821910	3	4	109	1	0	0	0	0	1	0	0	0	4064	962	34	5	1099	5	CUX1	7	101821910	Missense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08	2347985	101821910	57316753	69	73963											
AASS	10157	broad.mit.edu	37	chr7	121773576	121773576	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	attggaaatactcaccttatCatgaatggcccgccgattcg	8	11	2	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr7:121773576C>G	uc003vka.2	-	1	301	c.205G>C	c.(205-207)GAT>CAT	p.D69H	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.D69H|AASS_uc011knw.1_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	69	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTCACCTTATCATGAATGGCC	0.423													G	121773576	C	G	121773576	3	3	109	1	0	0	0	0	1	0	0	0	24	826	29	5	2667	5	AASS	7	121773576	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	19951666	121773576	37365087	70	73964											
GIMAP6	474344	broad.mit.edu	37	chr7	150325053	150325053	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctccatgagctctcgcagTtgggcctcctgctcctcccc	8	18	2	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr7:150325053T>G	uc003whn.2	-	3	1057	c.633A>C	c.(631-633)CAA>CAC	p.Q211H	GIMAP6_uc003whm.2_Missense_Mutation_p.Q131H	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	211							GTP binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTCTCGCAGTTGGGCCTCCT	0.537													G	150325053	T	G	150325053	3	3	109	1	0	0	0	0	1	0	0	0	6383	1722	60	5	249	5	GIMAP6	7	150325053	Missense_Mutation	SNP	T	TCGA-BR-8690-01A-11D-2394-08	28551477	150325053	8813610	71	73965											
ABCB8	11194	broad.mit.edu	37	chr7	150733041	150733041	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtgccttcgccatggagCaacgggaagaggagtgagtc	16	9	0	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr7:150733041C>T	uc003wil.3	+	8	1144	c.1051C>T	c.(1051-1053)CAA>TAA	p.Q351*	ABCB8_uc003wii.2_Nonsense_Mutation_p.Q371*|ABCB8_uc003wij.3_Nonsense_Mutation_p.Q334*|ABCB8_uc010lpw.1_Missense_Mutation_p.A199V|ABCB8_uc010lpx.2_Nonsense_Mutation_p.Q334*|ABCB8_uc011kvd.1_Nonsense_Mutation_p.Q246*|ABCB8_uc003wim.3_Nonsense_Mutation_p.Q129*|ABCB8_uc003wik.3_Nonsense_Mutation_p.Q334*	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	351	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCCATGGAGCAACGGGAAGA	0.632													T	150733041	C	T	150733041	4	4	109	1	0	0	0	0	0	1	0	0	47	711	25	2	1026	2	ABCB8	7	150733041	Nonsense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	407988	150733041	8405622	72	73966											
RNF122	79845	broad.mit.edu	37	chr8	33416224	33416224	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgttgagcggaaggtcctGgaaactgatgggtggcatcg	17	6	0	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr8:33416224G>A	uc003xjo.1	-	2	493	c.91C>T	c.(91-93)CAG>TAG	p.Q31*		NM_024787	NP_079063	Q9H9V4	RN122_HUMAN	ring finger protein 122	31						endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		GGAAGGTCCTGGAAACTGATG	0.483													A	33416224	G	A	33416224	4	1	109	1	0	0	0	0	0	1	0	0	13432	1357	47	4	396	4	RNF122	8	33416224	Nonsense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08		33416224	112947798	73	73967											
SOX17	64321	broad.mit.edu	37	chr8	55371955	55371955	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcgcgcctccgctcgaCggctacccgttgcccacgcc	12	20	0	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr8:55371955C>T	uc003xsb.3	+	2	849	c.645C>T	c.(643-645)GAC>GAT	p.D215D		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	215					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CTCCGCTCGACGGCTACCCGT	0.766													T	55371955	C	T	55371955	2	4	109	1	0	0	0	0	0	0	0	1	14947	535	19	1		1	SOX17	8	55371955	Silent	SNP	C	TCGA-BR-8690-01A-11D-2394-08	21955731	55371955	90992067	74	73968											
TRPA1	8989	broad.mit.edu	37	chr8	72951146	72951146	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactagtttcattgatgatgCcagttgagttgaaagccatt	9	7	1	4			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr8:72951146C>A	uc003xza.2	-	19	2424	c.2249G>T	c.(2248-2250)GGC>GTC	p.G750V	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	750	Extracellular (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	ATTGATGATGCCAGTTGAGTT	0.308													A	72951146	C	A	72951146	3	1	109	1	0	0	0	0	1	0	0	0	16574	739	26	5	1146	5	TRPA1	8	72951146	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	17579191	72951146	73412876	75	73969											
UBR5	51366	broad.mit.edu	37	chr8	103297970	103297970	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtaccactccggcgtAagtttgaaggatcaatataa	10	7	1	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr8:103297970A>C	uc003ykr.1	-	39	5288	c.5255T>G	c.(5254-5256)TTA>TGA	p.L1752*	UBR5_uc003yks.1_Nonsense_Mutation_p.L1752*	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1752					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ACTCCGGCGTAAGTTTGAAGG	0.458													C	103297970	A	C	103297970	4	2	109	1	0	0	0	0	0	1	0	0	16902	372	13	5	3228	5	UBR5	8	103297970	Nonsense_Mutation	SNP	A	TCGA-BR-8690-01A-11D-2394-08	30346824	103297970	43066052	76	73970											
CSMD3	114788	broad.mit.edu	37	chr8	113933973	113933973	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaagagaactgcacagttgAtccaaggctaaagttaaata	8	7	0	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr8:113933973A>C	uc003ynu.2	-	10	1675	c.1516T>G	c.(1516-1518)TCA>GCA	p.S506A	CSMD3_uc003ynt.2_Missense_Mutation_p.S466A|CSMD3_uc011lhx.1_Missense_Mutation_p.S402A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	506	Extracellular (Potential).|Sushi 2.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TGCACAGTTGATCCAAGGCTA	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113933973	A	C	113933973	3	2	109	1	0	0	0	0	1	0	0	0	3946	333	12	5	9855	5	CSMD3	8	113933973	Missense_Mutation	SNP	A	TCGA-BR-8690-01A-11D-2394-08	10636003	113933973	32430049	77	73971											
TRPS1	7227	broad.mit.edu	37	chr8	116427158	116427158	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcttctgacctcctctctAacgggcttccattgacttgc	7	14	3	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr8:116427158A>C	uc003ynz.2	-	6	3398	c.2939T>G	c.(2938-2940)TTA>TGA	p.L980*	TRPS1_uc011lhy.1_Nonsense_Mutation_p.L984*|TRPS1_uc003yny.2_Nonsense_Mutation_p.L993*|TRPS1_uc010mcy.2_Nonsense_Mutation_p.L980*	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	980					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CCTCCTCTCTAACGGGCTTCC	0.493									Langer-Giedion_syndrome				C	116427158	A	C	116427158	4	2	109	1	0	0	0	0	0	1	0	0	16590	372	13	5	910	5	TRPS1	8	116427158	Nonsense_Mutation	SNP	A	TCGA-BR-8690-01A-11D-2394-08	2493185	116427158	29936864	78	73972											
HAS2	3037	broad.mit.edu	37	chr8	122626532	122626532	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tccttataaatggtgaaaatCacaccacccaggaggattgt	8	9	1	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr8:122626532C>G	uc003yph.2	-	4	2014	c.1476G>C	c.(1474-1476)GTG>GTC	p.V492V		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	492	Helical; Name=6; (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGTGAAAATCACACCACCCA	0.413													G	122626532	C	G	122626532	2	3	109	1	0	0	0	0	0	0	0	1	6962	813	29	5		5	HAS2	8	122626532	Silent	SNP	C	TCGA-BR-8690-01A-11D-2394-08	6199374	122626532	23737490	79	73973											
LRRC6	23639	broad.mit.edu	37	chr8	133584696	133584696	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggaatgagtgcttgctaGggtctacttctagtttctcc	11	9	3	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr8:133584696G>T	uc003ytk.2	-	12	1333	c.1259C>A	c.(1258-1260)CCT>CAT	p.P420H	LRRC6_uc003ytl.2_RNA	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	420						cytoplasm				ovary(1)|kidney(1)	2	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GTGCTTGCTAGGGTCTACTTC	0.368													T	133584696	G	T	133584696	3	4	109	1	0	0	0	0	1	0	0	0	9016	1000	35	5	145	5	LRRC6	8	133584696	Missense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08	10958164	133584696	12779326	80	73974											
CA9	768	broad.mit.edu	37	chr9	35680798	35680798	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttttgctgtcaccagcgTcgcgttccttgtgcagatga	10	12	1	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr9:35680798T>C	uc003zxo.3	+	10	1328	c.1286T>C	c.(1285-1287)GTC>GCC	p.V429A	CA9_uc003zxp.3_Missense_Mutation_p.V420A	NM_001216	NP_001207	Q16790	CAH9_HUMAN	carbonic anhydrase IX precursor	429	Helical; (Potential).				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			ovary(4)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTCACCAGCGTCGCGTTCCTT	0.547													C	35680798	T	C	35680798	3	2	109	1	0	0	0	0	1	0	0	0	2524	1667	58	3	1324	3	CA9	9	35680798	Missense_Mutation	SNP	T	TCGA-BR-8690-01A-11D-2394-08		35680798	105532633	81	73975											
ZNF484	83744	broad.mit.edu	37	chr9	95609461	95609461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgtatcctgagccgagaCttccaggtgaatgattttcc	10	9	0	5			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr9:95609461C>T	uc004asu.1	-	5	1757	c.1608G>A	c.(1606-1608)AAG>AAA	p.K536K	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Silent_p.K538K|ZNF484_uc010mrb.1_Silent_p.K500K|ZNF484_uc004asv.1_Silent_p.K500K	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	536	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGAGCCGAGACTTCCAGGTGA	0.403													T	95609461	C	T	95609461	2	4	109	1	0	0	0	0	0	0	0	1	17934	564	20	4		4	ZNF484	9	95609461	Silent	SNP	C	TCGA-BR-8690-01A-11D-2394-08	59928663	95609461	45603970	82	73976											
PTCH1	5727	broad.mit.edu	37	chr9	98240429	98240429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggtggtgaaggaaagcaCcttttgagtggagttctgtg	16	5	1	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr9:98240429C>T	uc004avk.3	-	9	1443	c.1255G>A	c.(1255-1257)GTG>ATG	p.V419M	PTCH1_uc010mro.2_Missense_Mutation_p.V268M|PTCH1_uc010mrp.2_Missense_Mutation_p.V268M|PTCH1_uc010mrq.2_Missense_Mutation_p.V268M|PTCH1_uc004avl.3_Missense_Mutation_p.V268M|PTCH1_uc010mrr.2_Missense_Mutation_p.V353M|PTCH1_uc004avm.3_Missense_Mutation_p.V418M|PTCH1_uc010mrs.1_Missense_Mutation_p.V139M	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	419	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAGGAAAGCACCTTTTGAGTG	0.517									Basal_Cell_Nevus_syndrome				T	98240429	C	T	98240429	3	4	109	1	0	0	0	0	1	0	0	0	12730	507	18	4	3148	4	PTCH1	9	98240429	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	2630968	98240429	42973002	83	73977											
TDRD7	23424	broad.mit.edu	37	chr9	100257957	100257957	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctaggagtgaagtgcaAccagtggtctgaggaggctt	14	9	1	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr9:100257957A>G	uc004axj.2	+	17	3314	c.3089A>G	c.(3088-3090)AAC>AGC	p.N1030S	TDRD7_uc011lux.1_Missense_Mutation_p.N956S|TDRD7_uc011luy.1_Missense_Mutation_p.N350S	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	1030	Interacts with CDK17 (By similarity).|Interacts with CABLES1 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)				GTGAAGTGCAACCAGTGGTCT	0.448													G	100257957	A	G	100257957	3	3	109	1	0	0	0	0	1	0	0	0	15732	43	2	3	3151	3	TDRD7	9	100257957	Missense_Mutation	SNP	A	TCGA-BR-8690-01A-11D-2394-08	2017528	100257957	40955474	84	73978											
SVEP1	79987	broad.mit.edu	37	chr9	113265372	113265372	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttccttgacaagtaagctTatcactgccttctagtctgt	7	10	3	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr9:113265372T>C	uc010mtz.2	-	6	1766	c.1429A>G	c.(1429-1431)AAG>GAG	p.K477E	SVEP1_uc010mua.1_Missense_Mutation_p.K477E|SVEP1_uc004beu.2_Missense_Mutation_p.K477E	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	477	Sushi 2.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CAAGTAAGCTTATCACTGCCT	0.463													C	113265372	T	C	113265372	3	2	109	1	0	0	0	0	1	0	0	0	15417	1763	61	3	9458	3	SVEP1	9	113265372	Missense_Mutation	SNP	T	TCGA-BR-8690-01A-11D-2394-08	13007415	113265372	27948059	85	73979											
TLR4	7099	broad.mit.edu	37	chr9	120475724	120475724	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgaaacaaatgagtgagTtttcagtattcctatcactc	6	7	2	3			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr9:120475724T>G	uc004bjz.2	+	3	1609	c.1318T>G	c.(1318-1320)TTT>GTT	p.F440V	TLR4_uc004bka.2_Missense_Mutation_p.F400V|TLR4_uc004bkb.2_Missense_Mutation_p.F240V	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	440	LRR 13.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						AATGAGTGAGTTTTCAGTATT	0.388													G	120475724	T	G	120475724	3	3	109	1	0	0	0	0	1	0	0	0	15950	1725	60	5	1328	5	TLR4	9	120475724	Missense_Mutation	SNP	T	TCGA-BR-8690-01A-11D-2394-08	7210352	120475724	20737707	86	73980											
C5	727	broad.mit.edu	37	chr9	123785724	123785724	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcaggaaaagaggagtAgcaaccaaattcagtttgta	11	6	2	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr9:123785724A>C	uc004bkv.2	-	10	1104	c.1074T>G	c.(1072-1074)GCT>GCG	p.A358A	C5_uc010mvm.1_Silent_p.A358A|C5_uc010mvn.1_Silent_p.A358A	NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	358					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AAAGAGGAGTAGCAACCAAAT	0.438													C	123785724	A	C	123785724	2	2	109	1	0	0	0	0	0	0	0	1	2280	407	15	5		5	C5	9	123785724	Silent	SNP	A	TCGA-BR-8690-01A-11D-2394-08	3310000	123785724	17427707	87	73981											
ENKUR	219670	broad.mit.edu	37	chr10	25279504	25279504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttctttatttcctcgtttCgcttacatatgtattcaggt	5	9	2	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr10:25279504C>T	uc001isg.1	-	4	647	c.482G>A	c.(481-483)CGA>CAA	p.R161Q	ENKUR_uc001ish.1_Missense_Mutation_p.R99Q	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	enkurin	161						cilium|flagellum	calmodulin binding|SH3 domain binding				0						TTCCTCGTTTCGCTTACATAT	0.358													T	25279504	C	T	25279504	3	4	109	1	0	0	0	0	1	0	0	0	5120	884	31	1	300	1	ENKUR	10	25279504	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08		25279504	110255243	88	73982											
FRMPD2	143162	broad.mit.edu	37	chr10	49393656	49393656	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatttctcggcccggttcagCtataaagctcttcctcctat	6	13	3	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr10:49393656C>A	uc001jgi.2	-	18	2406	c.2299G>T	c.(2299-2301)GCT>TCT	p.A767S	FRMPD2_uc001jgh.2_Missense_Mutation_p.A735S|FRMPD2_uc001jgj.2_Missense_Mutation_p.A745S	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	767					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		CCCGGTTCAGCTATAAAGCTC	0.473													A	49393656	C	A	49393656	3	1	109	1	0	0	0	0	1	0	0	0	6058	797	28	5	1678	5	FRMPD2	10	49393656	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	24114152	49393656	86141091	89	73983											
CSTF2T	23283	broad.mit.edu	37	chr10	53458048	53458048	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacctcagtttccatggcaCgagtctccatcgctcgagaa	9	13	2	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr10:53458048C>A	uc001jjp.2	-	1	1308	c.1262G>T	c.(1261-1263)CGT>CTT	p.R421L	PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit	421	9 X 5 AA tandem repeats of M-E-T-R-[AG].|Gly-rich.|1-1.				mRNA processing	nucleus	nucleotide binding|RNA binding			ovary(1)	1				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TTCCATGGCACGAGTCTCCAT	0.527													A	53458048	C	A	53458048	3	1	109	1	0	0	0	0	1	0	0	0	3985	536	19	5	592	5	CSTF2T	10	53458048	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	4064392	53458048	82076699	90	73984											
TET1	80312	broad.mit.edu	37	chr10	70446291	70446291	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggcaccccgccgcaaaaaaaGaacgtgtttcactcagcctg	9	14	2	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr10:70446291G>C	uc001jok.3	+	11	5736	c.5231G>C	c.(5230-5232)AGA>ACA	p.R1744T		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1744					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						CGCAAAAAAAGAACGTGTTTC	0.493													C	70446291	G	C	70446291	3	2	109	1	0	0	0	0	1	0	0	0	15766	942	33	5	5269	5	TET1	10	70446291	Missense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08	16988243	70446291	65088456	91	73985											
CDH23	64072	broad.mit.edu	37	chr10	73538045	73538045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgccccatcttatcccacCgcctcacctctaccaccacg	4	21	3	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr10:73538045C>T	uc001jrx.3	+	38	5544	c.5167C>T	c.(5167-5169)CGC>TGC	p.R1723C		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1723	Cadherin 16.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CTTATCCCACCGCCTCACCTC	0.612													T	73538045	C	T	73538045	3	4	109	1	0	0	0	0	1	0	0	0	3108	652	23	1	5666	1	CDH23	10	73538045	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	3091754	73538045	61996702	92	73986											
OIT3	170392	broad.mit.edu	37	chr10	74658610	74658610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaccactgtggaacccacGcacctgtctggctcaatggc	9	14	2	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr10:74658610G>A	uc001jte.1	+	2	468	c.250G>A	c.(250-252)GCA>ACA	p.A84T	OIT3_uc009xqs.1_RNA	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	oncoprotein-induced transcript 3 precursor	84						nuclear envelope	calcium ion binding			ovary(2)	2	Prostate(51;0.0198)					TGGAACCCACGCACCTGTCTG	0.567													A	74658610	G	A	74658610	3	1	109	1	0	0	0	0	1	0	0	0	10849	1087	38	1	256	1	OIT3	10	74658610	Missense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08	1120565	74658610	60876137	93	73987											
PLCE1	51196	broad.mit.edu	37	chr10	95931103	95931103	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taccgcagggtcttgccagtCgactacctttgcttcttaac	8	13	2	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr10:95931103C>T	uc001kjk.2	+	4	2293	c.1659C>T	c.(1657-1659)GTC>GTT	p.V553V	PLCE1_uc010qnx.1_Silent_p.V553V|PLCE1_uc001kjm.2_Silent_p.V245V	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	553	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				TCTTGCCAGTCGACTACCTTT	0.542													T	95931103	C	T	95931103	2	4	109	1	0	0	0	0	0	0	0	1	12034	871	31	1		1	PLCE1	10	95931103	Silent	SNP	C	TCGA-BR-8690-01A-11D-2394-08	21272493	95931103	39603644	94	73988											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105526894	105526894	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgcttggggtccttctggcCaccttcaatgggaaacttat	10	10	2	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr10:105526894C>A	uc001kxj.1	-	3	327	c.187G>T	c.(187-189)GGC>TGC	p.G63C		NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	63	PX.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TCCTTCTGGCCACCTTCAATG	0.547													A	105526894	C	A	105526894	3	1	109	1	0	0	0	0	1	0	0	0	14256	594	21	5	3178	5	SH3PXD2A	10	105526894	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	9595791	105526894	30007853	95	73989											
HSPA12A	259217	broad.mit.edu	37	chr10	118458177	118458177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccttaaagtactgcaggGcataagcaaagatttcaagg	10	8	1	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr10:118458177G>A	uc001lct.2	-	5	620	c.515C>T	c.(514-516)GCC>GTC	p.A172V	HSPA12A_uc001lcu.2_Missense_Mutation_p.A89V	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	172							ATP binding			ovary(1)	1				all cancers(201;0.0158)		GTACTGCAGGGCATAAGCAAA	0.537													A	118458177	G	A	118458177	3	1	109	1	0	0	0	0	1	0	0	0	7404	1203	42	2	1544	2	HSPA12A	10	118458177	Missense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08	12931283	118458177	17076570	96	73990											
MUC2	4583	broad.mit.edu	37	chr11	1087573	1087573	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaccaaagagggggcctgCgtgttctggaggacgccgga	17	9	1	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr11:1087573C>T	uc001lsx.1	+	24	3351	c.3324C>T	c.(3322-3324)TGC>TGT	p.C1108C		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	1108						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGGGGGCCTGCGTGTTCTGGA	0.667													T	1087573	C	T	1087573	2	4	109	1	0	0	0	0	0	0	0	1	9975	776	27	1		1	MUC2	11	1087573	Silent	SNP	C	TCGA-BR-8690-01A-11D-2394-08		1087573	133918943	97	73991											
SERGEF	26297	broad.mit.edu	37	chr11	18010292	18010292	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgcttccccaaacatacacCtctcctgcatcttaaacaaa	2	15	2	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr11:18010292C>A	uc001mnm.2	-	8	776	c.696G>T	c.(694-696)GAG>GAT	p.E232D	SERGEF_uc009yhd.2_RNA|SERGEF_uc001mnn.2_Missense_Mutation_p.E232D|SERGEF_uc010rcz.1_Missense_Mutation_p.E118D|SERGEF_uc001mno.1_Missense_Mutation_p.E118D	NM_012139	NP_036271	Q9UGK8	SRGEF_HUMAN	deafness locus associated putative guanine	232	RCC1 5.				negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1						AAACATACACCTCTCCTGCAT	0.403													A	18010292	C	A	18010292	3	1	109	1	0	0	0	0	1	0	0	0	14077	680	24	5	696	5	SERGEF	11	18010292	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	16922719	18010292	116996224	98	73992											
AMBRA1	55626	broad.mit.edu	37	chr11	46430169	46430169	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtctgggtgccctgagatgtCactgaggtggcagggttccg	17	9	2	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr11:46430169C>T	uc010rgu.1	-	17	3657	c.3297G>A	c.(3295-3297)GTG>GTA	p.V1099V	AMBRA1_uc010rgt.1_Intron|AMBRA1_uc009ylc.1_Silent_p.V1070V|AMBRA1_uc001ncu.1_Silent_p.V1009V|AMBRA1_uc001ncv.2_Silent_p.V1102V|AMBRA1_uc001ncw.2_Silent_p.V980V|AMBRA1_uc001ncx.2_Silent_p.V1039V	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	1099					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCTGAGATGTCACTGAGGTGG	0.602													T	46430169	C	T	46430169	2	4	109	1	0	0	0	0	0	0	0	1	565	813	29	4		4	AMBRA1	11	46430169	Silent	SNP	C	TCGA-BR-8690-01A-11D-2394-08	28419877	46430169	88576347	99	73993											
OR1S1	219959	broad.mit.edu	37	chr11	57982414	57982414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggctatcagcttggatacGtaccttcatacccccatgta	8	12	2	0	rs111386724	byFrequency	TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr11:57982414G>A	uc010rkc.1	+	1	198	c.198G>A	c.(196-198)ACG>ACA	p.T66T		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	66	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)				GCTTGGATACGTACCTTCATA	0.443													A	57982414	G	A	57982414	2	1	109	1	0	0	0	0	0	0	0	1	10972	1132	40	1		1	OR1S1	11	57982414	Silent	SNP	G	TCGA-BR-8690-01A-11D-2394-08	11552245	57982414	77024102	100	73994											
CNTF	1270	broad.mit.edu	37	chr11	58391931	58391931	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccatgaccttcgtttcatttCttctcatcagactgggatcc	6	13	4	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr11:58391931C>A	uc001nna.3	+	2	619	c.539C>A	c.(538-540)TCT>TAT	p.S180Y	ZFP91-CNTF_uc010rkm.1_RNA	NM_000614	NP_000605	P26441	CNTF_HUMAN	ciliary neurotrophic factor	180					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CGTTTCATTTCTTCTCATCAG	0.473													A	58391931	C	A	58391931	3	1	109	1	0	0	0	0	1	0	0	0	3637	913	32	5	545	5	CNTF	11	58391931	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	409517	58391931	76614585	101	73995											
MYO7A	4647	broad.mit.edu	37	chr11	76905526	76905526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagatcacgcccctgaagaCgctggagaagtgggcccagc	14	13	1	4			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr11:76905526C>T	uc001oyb.2	+	32	4552	c.4280C>T	c.(4279-4281)ACG>ATG	p.T1427M	MYO7A_uc010rsm.1_Missense_Mutation_p.T1416M|MYO7A_uc001oyc.2_Missense_Mutation_p.T1427M|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.T638M	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1427	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						CCCCTGAAGACGCTGGAGAAG	0.592													T	76905526	C	T	76905526	3	4	109	1	0	0	0	0	1	0	0	0	10082	536	19	1	4436	1	MYO7A	11	76905526	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	18513595	76905526	58100990	102	73996											
GRM5	2915	broad.mit.edu	37	chr11	88300299	88300299	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctggctgcggaggatgacTtgccatcccctacatgcatg	12	12	0	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr11:88300299T>G	uc001pcq.2	-	7	2752	c.2552A>C	c.(2551-2553)AAG>ACG	p.K851T	GRM5_uc009yvm.2_Missense_Mutation_p.K851T	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	851	Cytoplasmic (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GGAGGATGACTTGCCATCCCC	0.552													G	88300299	T	G	88300299	3	3	109	1	0	0	0	0	1	0	0	0	6800	1609	56	5	1098	5	GRM5	11	88300299	Missense_Mutation	SNP	T	TCGA-BR-8690-01A-11D-2394-08	11394773	88300299	46706217	103	73997											
B4GALNT3	283358	broad.mit.edu	37	chr12	666773	666773	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctgaccccctggggtaGtgaagaaccaggcacgctgg	14	13	0	3			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr12:666773G>C	uc001qii.1	+	16	2381	c.2381_splice	c.e16-1	p.V794_splice	B4GALNT3_uc001qik.1_Splice_Site_p.V343_splice	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta							Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCCTGGGGTAGTGAAGAACCA	0.552													C	666773	G	C	666773	5	2	109	1	0	0	0	0	0	0	1	0	1268	1043	36	5	2442	5	B4GALNT3	12	666773	Splice_Site	SNP	G	TCGA-BR-8690-01A-11D-2394-08		666773	133185122	104	73998											
OLR1	4973	broad.mit.edu	37	chr12	10312524	10312524	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgacatatactgaaggcAgctaaaatgcagttttccgc	8	9	1	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr12:10312524A>G	uc001qxo.1	-	6	891	c.777T>C	c.(775-777)GCT>GCC	p.A259A	OLR1_uc010sgz.1_3'UTR|OLR1_uc010sha.1_3'UTR	NM_002543	NP_002534	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like)	259	Extracellular (Potential).|C-type lectin.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			ovary(1)	1						TACTGAAGGCAGCTAAAATGC	0.418													G	10312524	A	G	10312524	2	3	109	1	0	0	0	0	0	0	0	1	10863	175	7	3		3	OLR1	12	10312524	Silent	SNP	A	TCGA-BR-8690-01A-11D-2394-08	9645751	10312524	123539371	105	73999											
ABCC9	10060	broad.mit.edu	37	chr12	21997801	21997801	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagggatgtaacaaggcaaaGgaaaatgcctgctccacaga	12	8	0	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr12:21997801G>T	uc001rfi.1	-	25	3165	c.3145C>A	c.(3145-3147)CTT>ATT	p.L1049I	ABCC9_uc001rfh.2_Missense_Mutation_p.L1049I|ABCC9_uc001rfj.1_Missense_Mutation_p.L1013I	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1049	Helical; Name=13; (Potential).|ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACAAGGCAAAGGAAAATGCCT	0.413													T	21997801	G	T	21997801	3	4	109	1	0	0	0	0	1	0	0	0	59	1000	35	5	1702	5	ABCC9	12	21997801	Missense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08	11685277	21997801	111854094	106	74000											
ANO6	196527	broad.mit.edu	37	chr12	45797015	45797015	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tattggttgggaaaatacagAaatgaagaggtatgaatata	11	1	0	4			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr12:45797015A>C	uc001roo.2	+	14	2108	c.1773A>C	c.(1771-1773)AGA>AGC	p.R591S	ANO6_uc010sld.1_Missense_Mutation_p.R591S|ANO6_uc010sle.1_Missense_Mutation_p.R591S|ANO6_uc010slf.1_Missense_Mutation_p.R612S|ANO6_uc010slg.1_Missense_Mutation_p.R573S	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	591	Extracellular (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						GAAAATACAGAAATGAAGAGG	0.338													C	45797015	A	C	45797015	3	2	109	1	0	0	0	0	1	0	0	0	701	243	9	5	1847	5	ANO6	12	45797015	Missense_Mutation	SNP	A	TCGA-BR-8690-01A-11D-2394-08	23799214	45797015	88054880	107	74001											
BIN2	51411	broad.mit.edu	37	chr12	51717838	51717838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctaaacttcttctgcaCctgcttggcgaagaggccgg	11	13	2	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr12:51717838C>T	uc001ryg.2	-	1	101	c.49G>A	c.(49-51)GTG>ATG	p.V17M	BIN2_uc009zlz.2_Missense_Mutation_p.V17M|BIN2_uc001ryh.2_Translation_Start_Site|BIN2_uc010sng.1_Intron	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	bridging integrator 2	17						cytoplasm	protein binding			ovary(1)	1						TTCTTCTGCACCTGCTTGGCG	0.721													T	51717838	C	T	51717838	3	4	109	1	0	0	0	0	1	0	0	0	1433	507	18	4	1700	4	BIN2	12	51717838	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	5920823	51717838	82134057	108	74002											
IKZF4	64375	broad.mit.edu	37	chr12	56420729	56420729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcctcactcccctgggGgcatccggctgcccaatggc	12	17	1	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr12:56420729G>A	uc001sjb.1	+	5	610	c.451G>A	c.(451-453)GGC>AGC	p.G151S	IKZF4_uc010sqa.1_Missense_Mutation_p.G104S|IKZF4_uc001sjc.1_Missense_Mutation_p.G151S|IKZF4_uc001sjd.1_Missense_Mutation_p.G49S|IKZF4_uc009zoi.1_Missense_Mutation_p.G106S|IKZF4_uc001sje.1_Missense_Mutation_p.G110S	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	zinc finger protein, subfamily 1A, 4	151					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTCCCCTGGGGGCATCCGGCT	0.587													A	56420729	G	A	56420729	3	1	109	1	0	0	0	0	1	0	0	0	7617	1232	43	4	465	4	IKZF4	12	56420729	Missense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08	4702891	56420729	77431166	109	74003											
RPH3A	22895	broad.mit.edu	37	chr12	113316957	113316957	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggaattcagccttctctAcgaccaggacaacagctccc	7	16	2	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr12:113316957A>G	uc010syl.1	+	14	1567	c.1205A>G	c.(1204-1206)TAC>TGC	p.Y402C	RPH3A_uc001ttz.2_Missense_Mutation_p.Y402C|RPH3A_uc001tty.2_Missense_Mutation_p.Y398C|RPH3A_uc009zwe.1_Missense_Mutation_p.Y398C|RPH3A_uc010sym.1_Missense_Mutation_p.Y353C|RPH3A_uc001tua.2_Missense_Mutation_p.Y162C	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	402	C2 1.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AGCCTTCTCTACGACCAGGAC	0.483													G	113316957	A	G	113316957	3	3	109	1	0	0	0	0	1	0	0	0	13551	391	14	3	1251	3	RPH3A	12	113316957	Missense_Mutation	SNP	A	TCGA-BR-8690-01A-11D-2394-08	56896228	113316957	20534938	110	74004											
TPTE2	93492	broad.mit.edu	37	chr13	20041401	20041401	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaacttaatgtcaaaaaaaAtgtaaatgacatcaaccagc	5	8	2	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr13:20041401A>C	uc001umd.2	-	8	687	c.476T>G	c.(475-477)ATT>AGT	p.I159S	TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Intron|TPTE2_uc001ume.2_Intron|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	159	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GTCAAAAAAAATGTAAATGAC	0.299													C	20041401	A	C	20041401	3	2	109	1	0	0	0	0	1	0	0	0	16428	101	4	5	1148	5	TPTE2	13	20041401	Missense_Mutation	SNP	A	TCGA-BR-8690-01A-11D-2394-08		20041401	95128477	111	74005											
SLITRK6	84189	broad.mit.edu	37	chr13	86369127	86369127	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatctgggttagcaaatcaAgatcatccaaaatattactt	5	8	3	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr13:86369127A>C	uc001vll.1	-	2	1976	c.1517T>G	c.(1516-1518)CTT>CGT	p.L506R	SLITRK6_uc010afe.1_Intron	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	506	Extracellular (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TAGCAAATCAAGATCATCCAA	0.403													C	86369127	A	C	86369127	3	2	109	1	0	0	0	0	1	0	0	0	14747	72	3	5	1012	5	SLITRK6	13	86369127	Missense_Mutation	SNP	A	TCGA-BR-8690-01A-11D-2394-08	66327726	86369127	28800751	112	74006											
COL4A1	1282	broad.mit.edu	37	chr13	110831620	110831620	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgatctgcatgaagttacctCtgatcccctgaagcccaggg	10	12	2	4			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr13:110831620C>A	uc001vqw.3	-	30	2464	c.2342G>T	c.(2341-2343)AGA>ATA	p.R781I	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	781	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GAAGTTACCTCTGATCCCCTG	0.363													A	110831620	C	A	110831620	3	1	109	1	0	0	0	0	1	0	0	0	3689	913	32	5	2759	5	COL4A1	13	110831620	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	24462493	110831620	4338258	113	74007											
RNF31	55072	broad.mit.edu	37	chr14	24624667	24624667	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcctatgcgttgttccataaGaagctgaccgagggtgtgct	13	9	0	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr14:24624667G>C	uc001wmn.1	+	13	2598	c.2349G>C	c.(2347-2349)AAG>AAC	p.K783N	RNF31_uc001wml.1_Missense_Mutation_p.K632N|RNF31_uc001wmm.1_RNA|RNF31_uc010alg.1_Missense_Mutation_p.K542N|RNF31_uc001wmo.1_Missense_Mutation_p.K250N|RNF31_uc001wmp.2_RNA|RNF31_uc010alh.1_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	783	IBR-type 1.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		TGTTCCATAAGAAGCTGACCG	0.612													C	24624667	G	C	24624667	3	2	109	1	0	0	0	0	1	0	0	0	13487	933	33	5	2399	5	RNF31	14	24624667	Missense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08		24624667	82724873	114	74008											
DACT1	51339	broad.mit.edu	37	chr14	59112668	59112668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagggctgcccctcaggcGctgcctccgaccttcagagt	12	16	2	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr14:59112668G>A	uc001xdw.2	+	4	1491	c.1327G>A	c.(1327-1329)GCT>ACT	p.A443T	DACT1_uc010trv.1_Missense_Mutation_p.A162T|DACT1_uc001xdx.2_Missense_Mutation_p.A406T|DACT1_uc010trw.1_Missense_Mutation_p.A162T	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	443					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						CCCCTCAGGCGCTGCCTCCGA	0.597													A	59112668	G	A	59112668	3	1	109	1	0	0	0	0	1	0	0	0	4222	1087	38	1	1341	1	DACT1	14	59112668	Missense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08	34488001	59112668	48236872	115	74009											
FNTB	2342	broad.mit.edu	37	chr14	65507581	65507581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggctataccttctgtggcCtggccgcgctggtaatcctc	12	13	1	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr14:65507581C>T	uc001xia.2	+	8	931	c.766C>T	c.(766-768)CTG>TTG	p.L256L	FNTB_uc010tsl.1_Silent_p.L290L|FNTB_uc010tsm.1_Silent_p.L210L|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Silent_p.L12L|FNTB_uc010tso.1_Silent_p.L171L	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	256	PFTB 3.				protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CTTCTGTGGCCTGGCCGCGCT	0.517													T	65507581	C	T	65507581	2	4	109	1	0	0	0	0	0	0	0	1	5978	680	24	4		4	FNTB	14	65507581	Silent	SNP	C	TCGA-BR-8690-01A-11D-2394-08	6394913	65507581	41841959	116	74010											
DYNC1H1	1778	broad.mit.edu	37	chr14	102478443	102478443	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgggctcttcacacacgtgCtgagaaagtacgtcttcttt	9	10	4	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr14:102478443C>A	uc001yks.2	+	33	7014	c.6850C>A	c.(6850-6852)CTG>ATG	p.L2284M	DYNC1H1_uc001ykt.1_5'Flank	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2284	AAA 2 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CACACACGTGCTGAGAAAGTA	0.498													A	102478443	C	A	102478443	3	1	109	1	0	0	0	0	1	0	0	0	4841	796	28	5	6980	5	DYNC1H1	14	102478443	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	36970862	102478443	4871097	117	74011											
TRPM1	4308	broad.mit.edu	37	chr15	31318418	31318418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccggaagtgctcctgcaCgcactgctcctcgaactcat	8	17	1	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr15:31318418C>T	uc001zfm.2	-	26	3615	c.3487G>A	c.(3487-3489)GTG>ATG	p.V1163M	TRPM1_uc010azy.2_Missense_Mutation_p.V1070M|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1163	Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TGCTCCTGCACGCACTGCTCC	0.577													T	31318418	C	T	31318418	3	4	109	1	0	0	0	0	1	0	0	0	16582	536	19	1	1332	1	TRPM1	15	31318418	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08		31318418	71212974	118	74012											
MEIS2	4212	broad.mit.edu	37	chr15	37390190	37390190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagatcgcgtccttgtcccGcttcaaggcgtcgttgacag	11	12	1	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr15:37390190G>A	uc001zjr.2	-	2	1260	c.223C>T	c.(223-225)CGG>TGG	p.R75W	MEIS2_uc001zjl.2_Missense_Mutation_p.R62W|MEIS2_uc010ucj.1_Missense_Mutation_p.R62W|MEIS2_uc001zjm.2_5'UTR|MEIS2_uc001zjn.2_5'UTR|MEIS2_uc001zjo.2_Missense_Mutation_p.R75W|MEIS2_uc001zjp.2_Missense_Mutation_p.R75W|MEIS2_uc001zjs.2_Missense_Mutation_p.R75W|MEIS2_uc001zju.2_Missense_Mutation_p.R62W|MEIS2_uc001zjt.2_Missense_Mutation_p.R75W	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	75					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)	2		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TCCTTGTCCCGCTTCAAGGCG	0.632													A	37390190	G	A	37390190	3	1	109	1	0	0	0	0	1	0	0	0	9468	1086	38	1	1317	1	MEIS2	15	37390190	Missense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08	6071772	37390190	65141202	119	74013											
TTBK2	146057	broad.mit.edu	37	chr15	43038032	43038032	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggcttactcttcccttgGggggttttagtgctggctga	14	9	1	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr15:43038032G>A	uc001zqo.2	-	15	4135	c.3696C>T	c.(3694-3696)CCC>CCT	p.P1232P	TTBK2_uc010bcy.2_Silent_p.P1163P|uc001zqn.2_5'Flank	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1232					cell death		ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TCTTCCCTTGGGGGGTTTTAG	0.542													A	43038032	G	A	43038032	2	1	109	1	0	0	0	0	0	0	0	1	16674	1219	43	4		4	TTBK2	15	43038032	Silent	SNP	G	TCGA-BR-8690-01A-11D-2394-08	5647842	43038032	59493360	120	74014											
FBN1	2200	broad.mit.edu	37	chr15	48712976	48712976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggcagccatgctggcagCggtggttaccctcacactcg	12	14	2	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr15:48712976C>T	uc001zwx.1	-	63	8055	c.7727G>A	c.(7726-7728)CGC>CAC	p.R2576H	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2576	EGF-like 45; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATGCTGGCAGCGGTGGTTACC	0.532													T	48712976	C	T	48712976	3	4	109	1	0	0	0	0	1	0	0	0	5702	768	27	1	904	1	FBN1	15	48712976	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	5674944	48712976	53818416	121	74015											
FBN1	2200	broad.mit.edu	37	chr15	48738931	48738931	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcattgttgtgagaaaggatGaaaccatgattgcagcggca	12	6	1	3			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr15:48738931G>T	uc001zwx.1	-	47	6088	c.5760C>A	c.(5758-5760)TTC>TTA	p.F1920L	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1920	EGF-like 32; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GAGAAAGGATGAAACCATGAT	0.408													T	48738931	G	T	48738931	3	4	109	1	0	0	0	0	1	0	0	0	5702	1281	45	5	2935	5	FBN1	15	48738931	Missense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08	25955	48738931	53792461	122	74016											
ACAN	176	broad.mit.edu	37	chr15	89384998	89384998	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccacactccccgggaaggCtgctatggagacaaggatga	12	11	0	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr15:89384998C>A	uc010upo.1	+	5	1031	c.657C>A	c.(655-657)GGC>GGA	p.G219G	ACAN_uc002bmx.2_Silent_p.G219G|ACAN_uc010upp.1_Silent_p.G219G|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	219					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCCGGGAAGGCTGCTATGGAG	0.562													A	89384998	C	A	89384998	2	1	109	1	0	0	0	0	0	0	0	1	117	784	28	5		5	ACAN	15	89384998	Silent	SNP	C	TCGA-BR-8690-01A-11D-2394-08	40646067	89384998	13146394	123	74017											
PKD1	5310	broad.mit.edu	37	chr16	2161261	2161261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgcgtggggatgcaggCggcgggttcaacgcgcagca	19	10	1	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr16:2161261C>T	uc002cos.1	-	15	4116	c.3907G>A	c.(3907-3909)GCC>ACC	p.A1303T	PKD1_uc002cot.1_Missense_Mutation_p.A1303T	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1303	PKD 8.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						GGGATGCAGGCGGCGGGTTCA	0.706													T	2161261	C	T	2161261	3	4	109	1	0	0	0	0	1	0	0	0	11963	768	27	1	9132	1	PKD1	16	2161261	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08		2161261	88193492	124	74018											
DCI	1632	broad.mit.edu	37	chr16	2296861	2296861	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gagctgaactagcacctaccGaggtcagaatgacaccgcgg	12	12	1	3	rs148482178	byFrequency	TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr16:2296861G>C	uc002cpr.2	-	3	329	c.293C>G	c.(292-294)TCG>TGG	p.S98W	DCI_uc002cps.2_Missense_Mutation_p.S98W	NM_001919	NP_001910	P42126	ECI1_HUMAN	dodecenoyl-Coenzyme A delta isomerase precursor	98					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity				0						AGCACCTACCGAGGTCAGAAT	0.587													C	2296861	G	C	2296861	3	2	109	1	0	0	0	0	1	0	0	0	4289	1072	37	5	635	5	DCI	16	2296861	Missense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08	135600	2296861	88057892	125	74019											
CREBBP	1387	broad.mit.edu	37	chr16	3786799	3786799	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacttggaggacaggcccagAtgtgccctgtcacatacctg	11	13	1	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr16:3786799A>T	uc002cvv.2	-	27	4616	c.4412T>A	c.(4411-4413)ATC>AAC	p.I1471N	CREBBP_uc002cvw.2_Missense_Mutation_p.I1433N	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1471	Cys/His-rich.|Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACAGGCCCAGATGTGCCCTGT	0.512			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				T	3786799	A	T	3786799	3	4	109	1	0	0	0	0	1	0	0	0	3861	333	12	5	2936	5	CREBBP	16	3786799	Missense_Mutation	SNP	A	TCGA-BR-8690-01A-11D-2394-08	1489938	3786799	86567954	126	74020											
CIITA	4261	broad.mit.edu	37	chr16	11001447	11001447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttagtccaacacccaccgCgggccgcagagtccgagctg	12	16	0	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr16:11001447C>T	uc002dai.3	+	11	2231	c.2098C>T	c.(2098-2100)CGG>TGG	p.R700W	CIITA_uc002daj.3_Missense_Mutation_p.R701W|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.R700W|CIITA_uc002dah.2_Missense_Mutation_p.R652W|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	700	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						ACACCCACCGCGGGCCGCAGA	0.627			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								T	11001447	C	T	11001447	3	4	109	1	0	0	0	0	1	0	0	0	3428	759	27	1	2140	1	CIITA	16	11001447	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	7214648	11001447	79353306	127	74021											
DNAH3	55567	broad.mit.edu	37	chr16	20976432	20976433	+	Missense_Mutation	DNP	TT	TT	AG													ccagcttcagctctgctcttTtctggttcagcttctgcatc							TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr16:20976432_20976433TT>AG	uc010vbe.1	-	53	8773_8774	c.8773_8774AA>CT	c.(8773-8775)AAA>CTA	p.K2925L	DNAH3_uc010vbd.1_Missense_Mutation_p.K360L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2925	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CTCTGCTCTTTTCTGGTTCAGC	0.545													AG	20976433	TT	AG	20976432	3	1	109	1	0	0	0	0	1	0	0	0	4603	1841	64	5	3615	5	DNAH3	16	20976432	Missense_Mutation	DNP	TT	TCGA-BR-8690-01A-11D-2394-08	9974985	20976432	69378321	128	74022											
KIF22	3835	broad.mit.edu	37	chr16	29809747	29809747	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaggacatctatgcaggtTcagtgcagcccatcctaagg	11	11	2	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr16:29809747T>C	uc002dts.3	+	3	343	c.319T>C	c.(319-321)TCA>CCA	p.S107P	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Missense_Mutation_p.S39P|KIF22_uc010vdw.1_Missense_Mutation_p.S39P|KIF22_uc010bzf.2_Missense_Mutation_p.S39P	NM_007317	NP_015556	Q14807	KIF22_HUMAN	kinesin family member 22	107	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding				0						CTATGCAGGTTCAGTGCAGCC	0.463													C	29809747	T	C	29809747	3	2	109	1	0	0	0	0	1	0	0	0	8290	1783	62	3	329	3	KIF22	16	29809747	Missense_Mutation	SNP	T	TCGA-BR-8690-01A-11D-2394-08	8833315	29809747	60545006	129	74023											
DOC2A	8448	broad.mit.edu	37	chr16	30018255	30018255	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagcagcccctgcccctgCtccgcctgctccaactgcgg	9	21	0	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr16:30018255C>A	uc002dvm.2	-	8	829	c.729G>T	c.(727-729)GAG>GAT	p.E243D	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|DOC2A_uc002dvl.2_Missense_Mutation_p.E241D|DOC2A_uc002dvn.2_Missense_Mutation_p.E243D|DOC2A_uc010vef.1_RNA|DOC2A_uc002dvo.2_Missense_Mutation_p.E243D|DOC2A_uc002dvp.2_Missense_Mutation_p.E243D|DOC2A_uc002dvq.2_Missense_Mutation_p.E243D	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	243	Interaction with UNC13D.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			ovary(2)	2						CCTGCCCCTGCTCCGCCTGCT	0.697													A	30018255	C	A	30018255	3	1	109	1	0	0	0	0	1	0	0	0	4683	796	28	5	489	5	DOC2A	16	30018255	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	208508	30018255	60336498	130	74024											
THAP11	57215	broad.mit.edu	37	chr16	67876787	67876787	+	Silent	SNP	G	G	A													cagcagcagcaacagcagcaGcagcagcaacagcagcaaca							TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr16:67876787G>A	uc002euo.2	+	1	575	c.330G>A	c.(328-330)CAG>CAA	p.Q110Q	CENPT_uc002eun.3_Intron	NM_020457	NP_065190	Q96EK4	THA11_HUMAN	THAP domain containing 11	110	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		aacagcagcagcagcagcaac	0.303													A	67876787	G	A	67876787	2	1	109	1	0	0	0	0	0	0	0	1	15840	962	34	2		2	THAP11	16	67876787	Silent	SNP	G	TCGA-BR-8690-01A-11D-2394-08	37858532	67876787	22477966	131	74025	332	2									
THAP11	57215	broad.mit.edu	37	chr16	67876796	67876796	+	Silent	SNP	A	A	G													caacagcagcagcagcagcaAcagcagcaacagcagcagca							TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr16:67876796A>G	uc002euo.2	+	1	584	c.339A>G	c.(337-339)CAA>CAG	p.Q113Q	CENPT_uc002eun.3_Intron	NM_020457	NP_065190	Q96EK4	THA11_HUMAN	THAP domain containing 11	113	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcagcaacagcagcaac	0.308													G	67876796	A	G	67876796	2	3	109	1	0	0	0	0	0	0	0	1	15840	40	2	3		3	THAP11	16	67876796	Silent	SNP	A	TCGA-BR-8690-01A-11D-2394-08	9	67876796	22477957	132	74026	332	2									
CRISPLD2	83716	broad.mit.edu	37	chr16	84940234	84940234	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaggccttccggatctttGctgtcaggcagtgaatttcc	11	10	2	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr16:84940234G>T	uc010voh.1	+	15	1707	c.1480G>T	c.(1480-1482)GCT>TCT	p.A494S	CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fio.2_Missense_Mutation_p.A493S	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain	494						extracellular region|transport vesicle					0						CCGGATCTTTGCTGTCAGGCA	0.527													T	84940234	G	T	84940234	3	4	109	1	0	0	0	0	1	0	0	0	3883	1319	46	5	1534	5	CRISPLD2	16	84940234	Missense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08	17063438	84940234	5414519	133	74027											
TP53	7157	broad.mit.edu	37	chr17	7578500	7578500	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggaatcaacccacagctGcacagggcaggtcttggcca	12	12	2	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr17:7578500G>A	uc002gim.2	-	5	624	c.430C>T	c.(430-432)CAG>TAG	p.Q144*	TP53_uc002gig.1_Nonsense_Mutation_p.Q144*|TP53_uc002gih.2_Nonsense_Mutation_p.Q144*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q12*|TP53_uc010cng.1_Nonsense_Mutation_p.Q12*|TP53_uc002gii.1_Nonsense_Mutation_p.Q12*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q144*|TP53_uc010cni.1_Nonsense_Mutation_p.Q144*|TP53_uc002gij.2_Nonsense_Mutation_p.Q144*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.Q51*|TP53_uc002gio.2_Nonsense_Mutation_p.Q12*|TP53_uc010vug.1_Nonsense_Mutation_p.Q105*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	144	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q -> P (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q144*(29)|p.Q144L(8)|p.0?(7)|p.Q144H(4)|p.Q144P(4)|p.Q144R(4)|p.Q144fs*26(3)|p.Q144K(2)|p.Q144del(2)|p.Q144Q(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.V143_S149del(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACCCACAGCTGCACAGGGCAG	0.597		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7578500	G	A	7578500	4	1	109	1	0	0	0	0	0	1	0	0	16378	1328	46	2	868	2	TP53	17	7578500	Nonsense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08		7578500	73616710	134	74028											
DNAH2	146754	broad.mit.edu	37	chr17	7674764	7674764	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaacaaggacaacaatgcTctccggagcacccatcaccc	7	15	2	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr17:7674764T>G	uc002giu.1	+	27	4493	c.4479T>G	c.(4477-4479)GCT>GCG	p.A1493A		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1493	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACAACAATGCTCTCCGGAGCA	0.537													G	7674764	T	G	7674764	2	3	109	1	0	0	0	0	0	0	0	1	4602	1538	54	5		5	DNAH2	17	7674764	Silent	SNP	T	TCGA-BR-8690-01A-11D-2394-08	96264	7674764	73520446	135	74029											
NEK8	284086	broad.mit.edu	37	chr17	27068496	27068497	+	Frame_Shift_Ins	INS	-	-	G													aaggagggatgaggatgccgINSgactccctcggccagtgcag							TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr17:27068495_27068496C>CG	uc002hcp.3	+	13	1956_1957	c.1956_1957C>CG	c.(1954-1959)gccggafs	p.A652fs	TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.3_5'Flank	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	652						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					ATGAGGATGCCGGACTCCCTCG	0.579													G	27068497	-	G	27068496	7	5	109	1	0	1	1	0	0	0	0	0	10330	1117	39	0	2011	0	NEK8	17	27068496	Frame_Shift_Ins	INS	-	TCGA-BR-8690-01A-11D-2394-08	19393732	27068496	54126714	136	74030											
RAB11FIP4	84440	broad.mit.edu	37	chr17	29848243	29848243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctacacactccaccacctCgctcatcagcaatgaggagc	6	16	3	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr17:29848243C>T	uc002hgn.1	+	5	852	c.623C>T	c.(622-624)TCG>TTG	p.S208L	RAB11FIP4_uc002hgo.2_Missense_Mutation_p.S106L	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	208	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			skin(1)	1		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TCCACCACCTCGCTCATCAGC	0.582													T	29848243	C	T	29848243	3	4	109	1	0	0	0	0	1	0	0	0	12896	893	31	1	641	1	RAB11FIP4	17	29848243	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	2779747	29848243	51346967	137	74031											
KRT24	192666	broad.mit.edu	37	chr17	38854498	38854498	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagttccttatttaacTttcacctcagaaatactgct	5	10	2	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr17:38854498T>G	uc002hvd.2	-	8	1626	c.1569A>C	c.(1567-1569)AAA>AAC	p.K523N		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	keratin 24	523	Tail.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)				CTTATTTAACTTTCACCTCAG	0.388													G	38854498	T	G	38854498	3	3	109	1	0	0	0	0	1	0	0	0	8461	1606	56	5	12	5	KRT24	17	38854498	Missense_Mutation	SNP	T	TCGA-BR-8690-01A-11D-2394-08	9006255	38854498	42340712	138	74032											
KLHL10	317719	broad.mit.edu	37	chr17	40001552	40001552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacccactcaccagaccaCgcttgccctatgccatcctc	4	21	1	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr17:40001552C>T	uc010cxr.2	+	3	1001	c.859C>T	c.(859-861)CGC>TGC	p.R287C	KLHL10_uc010wfv.1_Missense_Mutation_p.R281C|KLHL10_uc010wfw.1_Missense_Mutation_p.R199C	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	287						cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)				CACCAGACCACGCTTGCCCTA	0.512													T	40001552	C	T	40001552	3	4	109	1	0	0	0	0	1	0	0	0	8366	536	19	1	869	1	KLHL10	17	40001552	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	1147054	40001552	41193658	139	74033											
ITGA3	3675	broad.mit.edu	37	chr17	48156529	48156529	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagcaatggcaagtggctGctgtatcccacggagatcac	12	11	2	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr17:48156529G>A	uc010dbl.2	+	20	2954	c.2490G>A	c.(2488-2490)CTG>CTA	p.L830L	ITGA3_uc010dbm.2_Silent_p.L830L	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	830	Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						GCAAGTGGCTGCTGTATCCCA	0.612													A	48156529	G	A	48156529	2	1	109	1	0	0	0	0	0	0	0	1	7877	1306	46	2		2	ITGA3	17	48156529	Silent	SNP	G	TCGA-BR-8690-01A-11D-2394-08	8154977	48156529	33038681	140	74034											
TSPAN10	83882	broad.mit.edu	37	chr17	79612272	79612272	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggctgctggccctggccatCgggctctggggcctggctgt	18	13	1	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr17:79612272C>T	uc010die.2	+	2	381	c.291C>T	c.(289-291)ATC>ATT	p.I97I	TSPAN10_uc002kaw.1_Silent_p.I97I|TSPAN10_uc010did.1_RNA	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	tetraspanin 10	97	Helical; (Potential).					integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CCCTGGCCATCGGGCTCTGGG	0.677													T	79612272	C	T	79612272	2	4	109	1	0	0	0	0	0	0	0	1	16631	874	31	1		1	TSPAN10	17	79612272	Silent	SNP	C	TCGA-BR-8690-01A-11D-2394-08	31455743	79612272	1582938	141	74035											
TBCD	6904	broad.mit.edu	37	chr17	80726295	80726295	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgtggtttaattttttaGgcttgggaaacccgctacat	9	9	0	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr17:80726295G>A	uc002kfz.2	+	5	566	c.436_splice	c.e5-1	p.A146_splice	TBCD_uc002kfx.1_Splice_Site_p.A129_splice|TBCD_uc002kfy.1_Splice_Site_p.A146_splice	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D						'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TAATTTTTTAGGCTTGGGAAA	0.517													A	80726295	G	A	80726295	5	1	109	1	0	0	0	0	0	0	1	0	15630	1014	35	4	453	4	TBCD	17	80726295	Splice_Site	SNP	G	TCGA-BR-8690-01A-11D-2394-08	1114023	80726295	468915	142	74036											
DSG3	1830	broad.mit.edu	37	chr18	29044178	29044178	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgataccgagttcagtcaacCccagtcacaattcaggtaat	7	12	4	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr18:29044178C>T	uc002kws.2	+	9	1213	c.1104C>T	c.(1102-1104)ACC>ACT	p.T368T		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	368	Cadherin 3.|Extracellular (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTCAGTCAACCCCAGTCACAA	0.373													T	29044178	C	T	29044178	2	4	109	1	0	0	0	0	0	0	0	1	4778	610	22	4		4	DSG3	18	29044178	Silent	SNP	C	TCGA-BR-8690-01A-11D-2394-08		29044178	49033070	143	74037											
PQLC1	80148	broad.mit.edu	37	chr18	77679319	77679319	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggacaggtaggtgatgtagCccgccacgcccgtgaaggcc	15	12	0	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr18:77679319C>A	uc002lnl.2	-	5	645	c.473G>T	c.(472-474)GGC>GTC	p.G158V	PQLC1_uc010dre.2_Missense_Mutation_p.G75V|PQLC1_uc002lnk.2_Missense_Mutation_p.G140V|PQLC1_uc010xfm.1_Intron	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1 isoform 1	158	Helical; (Potential).					integral to membrane				large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		GGTGATGTAGCCCGCCACGCC	0.622													A	77679319	C	A	77679319	3	1	109	1	0	0	0	0	1	0	0	0	12418	739	26	5	350	5	PQLC1	18	77679319	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	48635141	77679319	397929	144	74038											
KANK2	25959	broad.mit.edu	37	chr19	11289026	11289026	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttctcctctcacccgccGttgacccccacgaactggag	8	18	3	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr19:11289026G>A	uc010dxv.2	-	8	2073	c.1515C>T	c.(1513-1515)AAC>AAT	p.N505N	KANK2_uc002mqm.2_Silent_p.N513N|KANK2_uc002mqo.3_Silent_p.N505N|KANK2_uc002mqp.1_Silent_p.N314N	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1	505											0						CTCACCCGCCGTTGACCCCCA	0.637													A	11289026	G	A	11289026	2	1	109	1	0	0	0	0	0	0	0	1	7977	1136	40	1		1	KANK2	19	11289026	Silent	SNP	G	TCGA-BR-8690-01A-11D-2394-08		11289026	47839957	145	74039											
ZNF433	163059	broad.mit.edu	37	chr19	12128997	12128997	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttacctatagaggccaggttCctgaaggtttcttgcatcac	9	10	2	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr19:12128997C>G	uc002msy.1	-	2	294	c.123G>C	c.(121-123)AGG>AGC	p.R41S	uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.R6S	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGGCCAGGTTCCTGAAGGTTT	0.418													G	12128997	C	G	12128997	3	3	109	1	0	0	0	0	1	0	0	0	17904	854	30	5	1910	5	ZNF433	19	12128997	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	839971	12128997	46999986	146	74040											
CEBPG	1054	broad.mit.edu	37	chr19	33870080	33870080	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattttttggcagcttagcGtggaaaccattgatcaccct	9	9	1	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr19:33870080G>A	uc002nup.2	+	2	224	c.-65G>A	c.(-67--63)GCGTG>GCATG			NM_001806	NP_001797	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein gamma						B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0	Esophageal squamous(110;0.137)					GCAGCTTAGCGTGGAAACCAT	0.398													A	33870080	G	A	33870080	1	1	109	1	0	0	0	0	0	0	0	0	3203	1160	40	1		1	CEBPG	19	33870080	Translation_Start_Site	SNP	G	TCGA-BR-8690-01A-11D-2394-08	21741083	33870080	25258903	147	74041											
ZNF420	147923	broad.mit.edu	37	chr19	37619853	37619853	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aatgtgggaaggcctttactCgtggttcacagctaactcaa	10	9	2	0	rs150682748	by1000genomes	TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr19:37619853C>A	uc002ofl.2	+	5	2175	c.1960C>A	c.(1960-1962)CGT>AGT	p.R654S		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	654	C2H2-type 19.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGCCTTTACTCGTGGTTCACA	0.388													A	37619853	C	A	37619853	3	1	109	1	0	0	0	0	1	0	0	0	17894	884	31	5	1970	5	ZNF420	19	37619853	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	3749773	37619853	21509130	148	74042											
ACTN4	81	broad.mit.edu	37	chr19	39218653	39218653	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgggctacgacgtggAgaacgaccggcaggtactgc	15	12	0	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr19:39218653A>C	uc002oja.1	+	19	2464	c.2405A>C	c.(2404-2406)GAG>GCG	p.E802A	ACTN4_uc002ojb.1_Missense_Mutation_p.E124A	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	802					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TACGACGTGGAGAACGACCGG	0.577													C	39218653	A	C	39218653	3	2	109	1	0	0	0	0	1	0	0	0	207	304	11	5	2479	5	ACTN4	19	39218653	Missense_Mutation	SNP	A	TCGA-BR-8690-01A-11D-2394-08	1598800	39218653	19910330	149	74043											
SPIB	6689	broad.mit.edu	37	chr19	50926202	50926202	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgctacgaaccccccaccTacagccctgcagggaacctc	7	19	1	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr19:50926202T>A	uc002psd.2	+	4	272	c.247T>A	c.(247-249)TAC>AAC	p.Y83N	SPIB_uc002pse.2_Missense_Mutation_p.Y83N|SPIB_uc010ycc.1_Intron	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	83					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			lung(1)|kidney(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		ACCCCCCACCTACAGCCCTGC	0.687													A	50926202	T	A	50926202	3	1	109	1	0	0	0	0	1	0	0	0	15049	1522	53	5	261	5	SPIB	19	50926202	Missense_Mutation	SNP	T	TCGA-BR-8690-01A-11D-2394-08	11707549	50926202	8202781	150	74044											
MBOAT7	79143	broad.mit.edu	37	chr19	54678121	54678121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagcagcatggtccaggCgctcctgaggaggaggctgg	17	11	1	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr19:54678121C>T	uc002qdq.2	-	9	1302	c.1036G>A	c.(1036-1038)GCC>ACC	p.A346T	TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Missense_Mutation_p.A30T|MBOAT7_uc010yem.1_Missense_Mutation_p.A328T|MBOAT7_uc002qdr.2_Missense_Mutation_p.A346T|MBOAT7_uc002qds.2_Missense_Mutation_p.A273T|MBOAT7_uc010yen.1_Missense_Mutation_p.A273T	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain	346					phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ATGGTCCAGGCGCTCCTGAGG	0.463													T	54678121	C	T	54678121	3	4	109	1	0	0	0	0	1	0	0	0	9358	768	27	1	386	1	MBOAT7	19	54678121	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	3751919	54678121	4450862	151	74045											
NLRP11	204801	broad.mit.edu	37	chr19	56329269	56329269	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctcgtgaccccactcaCggtttcgtctgccaatgatc	7	16	3	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr19:56329269C>T	uc010ygf.1	-	4	982	c.271_splice	c.e4+1	p.R91_splice	NLRP11_uc002qmb.2_Intron|NLRP11_uc002qmc.2_Intron|NLRP11_uc010ete.1_Splice_Site	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11								ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACCCCACTCACGGTTTCGTCT	0.388													T	56329269	C	T	56329269	5	4	109	1	0	0	0	0	0	0	1	0	10473	550	19	1	2865	1	NLRP11	19	56329269	Splice_Site	SNP	C	TCGA-BR-8690-01A-11D-2394-08	1651148	56329269	2799714	152	74046											
ZNF835	90485	broad.mit.edu	37	chr19	57175530	57175530	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgcgtcaggtgcgacAcctgggtgaaggccttggcg	18	10	1	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr19:57175530A>G	uc010ygo.1	-	2	1103	c.1103T>C	c.(1102-1104)GTG>GCG	p.V368A	ZNF835_uc010ygn.1_Missense_Mutation_p.V346A	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						CAGGTGCGACACCTGGGTGAA	0.692													G	57175530	A	G	57175530	3	3	109	1	0	0	0	0	1	0	0	0	18183	159	6	3	578	3	ZNF835	19	57175530	Missense_Mutation	SNP	A	TCGA-BR-8690-01A-11D-2394-08	846261	57175530	1953453	153	74047											
ADAM33	80332	broad.mit.edu	37	chr20	3654882	3654882	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagggtgtggtctgccAcaatgtacagttccaggtac	11	11	2	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr20:3654882A>G	uc002wit.2	-	7	737	c.650T>C	c.(649-651)GTG>GCG	p.V217A	ADAM33_uc002wir.1_Missense_Mutation_p.V217A|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Missense_Mutation_p.V217A|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Missense_Mutation_p.V140A|ADAM33_uc010zqg.1_Missense_Mutation_p.V229A|ADAM33_uc010zqh.1_Missense_Mutation_p.V217A	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	217	Extracellular (Potential).|Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4						GTGGTCTGCCACAATGTACAG	0.647													G	3654882	A	G	3654882	3	3	109	1	0	0	0	0	1	0	0	0	250	159	6	3	1855	3	ADAM33	20	3654882	Missense_Mutation	SNP	A	TCGA-BR-8690-01A-11D-2394-08		3654882	59370638	154	74048											
RALGAPB	57148	broad.mit.edu	37	chr20	37137784	37137784	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcccgatgaagatgccagtCtgatccctccagaaatggat	9	11	1	4			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr20:37137784C>G	uc002xiw.2	+	6	1062	c.805C>G	c.(805-807)CTG>GTG	p.L269V	RALGAPB_uc010zvz.1_Missense_Mutation_p.L269V|RALGAPB_uc002xix.2_Missense_Mutation_p.L269V|RALGAPB_uc002xiy.1_Missense_Mutation_p.L269V|RALGAPB_uc002xiz.2_Missense_Mutation_p.L47V|RALGAPB_uc002xja.1_5'UTR	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	269					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						AGATGCCAGTCTGATCCCTCC	0.368													G	37137784	C	G	37137784	3	3	109	1	0	0	0	0	1	0	0	0	13015	912	32	5	823	5	RALGAPB	20	37137784	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	33482902	37137784	25887736	155	74049											
PTPRT	11122	broad.mit.edu	37	chr20	40714431	40714431	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtcgatgtctgcggagacGaactccacctggatgggccc	13	13	1	1	rs34623060		TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr20:40714431G>A	uc002xkg.2	-	28	4093	c.3909C>T	c.(3907-3909)TTC>TTT	p.F1303F	PTPRT_uc010ggj.2_Silent_p.F1322F|PTPRT_uc010ggi.2_Silent_p.F506F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1303	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)				CTGCGGAGACGAACTCCACCT	0.552													A	40714431	G	A	40714431	2	1	109	1	0	0	0	0	0	0	0	1	12812	1049	37	1		1	PTPRT	20	40714431	Silent	SNP	G	TCGA-BR-8690-01A-11D-2394-08	3576647	40714431	22311089	156	74050											
SLC2A10	81031	broad.mit.edu	37	chr20	45354654	45354654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgcccatggactcaggcCcaagctgtctggctgtgccc	12	16	2	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr20:45354654C>T	uc002xsl.2	+	2	1076	c.979C>T	c.(979-981)CCA>TCA	p.P327S		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	327	Extracellular (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GGACTCAGGCCCAAGCTGTCT	0.637													T	45354654	C	T	45354654	3	4	109	1	0	0	0	0	1	0	0	0	14539	623	22	4	985	4	SLC2A10	20	45354654	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	4640223	45354654	17670866	157	74051											
ARFRP1	10139	broad.mit.edu	37	chr20	62331861	62331861	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acacacttcaccatccactcGatgccctcgcgcaccccttt	4	20	1	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr20:62331861G>A	uc002yga.2	-	7	1107	c.540C>T	c.(538-540)ATC>ATT	p.I180I	ARFRP1_uc002ygc.2_Silent_p.I180I|ARFRP1_uc002ygh.3_3'UTR|ARFRP1_uc011abf.1_3'UTR|ARFRP1_uc011abg.1_3'UTR|ARFRP1_uc002yge.2_RNA|ARFRP1_uc002ygd.2_RNA|ARFRP1_uc002ygf.2_Silent_p.I180I|ARFRP1_uc002ygg.2_RNA|ARFRP1_uc011abh.1_RNA	NM_003224	NP_003215	Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	180					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|skin(1)	2	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			CCATCCACTCGATGCCCTCGC	0.697													A	62331861	G	A	62331861	2	1	109	1	0	0	0	0	0	0	0	1	856	1048	37	1		1	ARFRP1	20	62331861	Silent	SNP	G	TCGA-BR-8690-01A-11D-2394-08	16977207	62331861	693659	158	74052											
ZGPAT	84619	broad.mit.edu	37	chr20	62339972	62339972	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtcggccttgcagacctacCgtgcgcagctgcagcaggtg	14	13	0	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr20:62339972C>G	uc002ygk.2	+	2	218	c.40C>G	c.(40-42)CGT>GGT	p.R14G	ARFRP1_uc002yga.2_5'Flank|ARFRP1_uc002ygc.2_5'Flank|ARFRP1_uc002ygh.3_5'Flank|ARFRP1_uc011abf.1_5'Flank|ARFRP1_uc011abg.1_5'Flank|ARFRP1_uc002yge.2_5'Flank|ARFRP1_uc002ygd.2_5'Flank|ARFRP1_uc002ygf.2_5'Flank|ARFRP1_uc002ygg.2_5'Flank|ARFRP1_uc011abh.1_5'Flank|ZGPAT_uc002ygi.2_Missense_Mutation_p.R14G|ZGPAT_uc002ygj.2_Missense_Mutation_p.R14G|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Missense_Mutation_p.R14G|ZGPAT_uc002ygm.2_Missense_Mutation_p.R14G|ZGPAT_uc002ygn.3_RNA	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	14					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCAGACCTACCGTGCGCAGCT	0.667													G	62339972	C	G	62339972	3	3	109	1	0	0	0	0	1	0	0	0	17671	652	23	5	42	5	ZGPAT	20	62339972	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	8111	62339972	685548	159	74053											
UCKL1	54963	broad.mit.edu	37	chr20	62577873	62577873	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggcggccgcccggcggtgtaGatggtacgcttgcttgtacg	17	11	0	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr20:62577873G>C	uc010gkn.2	-	2	280	c.237C>G	c.(235-237)ATC>ATG	p.I79M	UCKL1_uc011abm.1_Missense_Mutation_p.I64M|UCKL1_uc011abn.1_RNA|UCKL1_uc011abo.1_RNA	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	79					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGGCGGTGTAGATGGTACGCT	0.672													C	62577873	G	C	62577873	3	2	109	1	0	0	0	0	1	0	0	0	16922	932	33	5	1465	5	UCKL1	20	62577873	Missense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08	237901	62577873	447647	160	74054											
DSCAM	1826	broad.mit.edu	37	chr21	41496224	41496224	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatggaggctgaggccgcCgctgccttcacacccgcggg	14	16	1	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr21:41496224C>T	uc002yyq.1	-	20	4046	c.3594G>A	c.(3592-3594)GCG>GCA	p.A1198A	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1198	Fibronectin type-III 4.|Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGAGGCCGCCGCTGCCTTCA	0.597													T	41496224	C	T	41496224	2	4	109	1	0	0	0	0	0	0	0	1	4768	639	23	1		1	DSCAM	21	41496224	Silent	SNP	C	TCGA-BR-8690-01A-11D-2394-08		41496224	6633671	161	74055											
KRTAP10-5	386680	broad.mit.edu	37	chr21	46000423	46000423	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccaggagtcagagcaagcGctggagcagacggacatggt	16	10	1	2	rs139901000	by1000genomes	TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr21:46000423G>A	uc002zfl.1	-	1	59	c.33C>T	c.(31-33)AGC>AGT	p.S11S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	keratin associated protein 10-5	11						keratin filament					0						CAGAGCAAGCGCTGGAGCAGA	0.592													A	46000423	G	A	46000423	2	1	109	1	0	0	0	0	0	0	0	1	8512	1078	38	1		1	KRTAP10-5	21	46000423	Silent	SNP	G	TCGA-BR-8690-01A-11D-2394-08	4504199	46000423	2129472	162	74056											
DEPDC5	9681	broad.mit.edu	37	chr22	32275619	32275619	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcagaagagctcgtgcActctgagattcctgcctttc	11	11	1	3			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr22:32275619A>G	uc003als.2	+	37	3963	c.3821A>G	c.(3820-3822)CAC>CGC	p.H1274R	DEPDC5_uc011als.1_Missense_Mutation_p.H1205R|DEPDC5_uc011alu.1_Missense_Mutation_p.H1305R|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.H1296R|DEPDC5_uc003alu.2_Missense_Mutation_p.H723R|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Missense_Mutation_p.H572R|DEPDC5_uc011alx.1_Missense_Mutation_p.H122R|DEPDC5_uc010gwk.2_Missense_Mutation_p.H300R|DEPDC5_uc011aly.1_Missense_Mutation_p.H122R	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1274					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						GAGCTCGTGCACTCTGAGATT	0.607													G	32275619	A	G	32275619	3	3	109	1	0	0	0	0	1	0	0	0	4442	159	6	3	4051	3	DEPDC5	22	32275619	Missense_Mutation	SNP	A	TCGA-BR-8690-01A-11D-2394-08		32275619	19028947	163	74057											
ASMTL	8623	broad.mit.edu	37	chrX	1557992	1557992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccctggccgcactcaccaCgatcgtgtccgctccaatga	8	18	1	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:1557992C>T	uc004cpx.1	-	3	382	c.271G>A	c.(271-273)GTG>ATG	p.V91M	ASMTL_uc011mhe.1_Silent_p.S36S|ASMTL_uc004cpy.1_Intron|ASMTL_uc011mhf.1_Missense_Mutation_p.V33M	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	91	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCACTCACCACGATCGTGTCC	0.547													T	1557992	C	T	1557992	3	4	109	1	0	0	0	0	1	0	0	0	1046	536	19	1	1638	1	ASMTL	23	1557992	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08		1557992	153712568	164	74058											
DMD	1756	broad.mit.edu	37	chrX	32366552	32366552	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attgaagtcttcctctttcaGattcaccccctgctgaattt	5	12	4	3			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:32366552G>T	uc004dda.1	-	38	5663	c.5419C>A	c.(5419-5421)CTG>ATG	p.L1807M	DMD_uc004dcw.2_Missense_Mutation_p.L463M|DMD_uc004dcx.2_Missense_Mutation_p.L466M|DMD_uc004dcz.2_Missense_Mutation_p.L1684M|DMD_uc004dcy.1_Missense_Mutation_p.L1803M|DMD_uc004ddb.1_Missense_Mutation_p.L1799M|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1807	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCTCTTTCAGATTCACCCCC	0.358													T	32366552	G	T	32366552	3	4	109	1	0	0	0	0	1	0	0	0	4580	933	33	5	5954	5	DMD	23	32366552	Missense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08	30808560	32366552	122904008	165	74059											
DMD	1756	broad.mit.edu	37	chrX	32583888	32583888	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagttatccagccatgcTtccgtcttctgggtcactga	9	12	3	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:32583888T>G	uc004dda.1	-	16	2167	c.1923A>C	c.(1921-1923)GAA>GAC	p.E641D	DMD_uc004dcz.2_Missense_Mutation_p.E518D|DMD_uc004dcy.1_Missense_Mutation_p.E637D|DMD_uc004ddb.1_Missense_Mutation_p.E633D|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.E633D	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	641	Spectrin 3.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCAGCCATGCTTCCGTCTTCT	0.403													G	32583888	T	G	32583888	3	3	109	1	0	0	0	0	1	0	0	0	4580	1606	56	5	9633	5	DMD	23	32583888	Missense_Mutation	SNP	T	TCGA-BR-8690-01A-11D-2394-08	217336	32583888	122686672	166	74060											
DGKK	139189	broad.mit.edu	37	chrX	50111946	50111946	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctttcaagggctacagtTgagatctcgatggtgttaga	12	7	2	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:50111946T>G	uc010njr.1	-	29	3869	c.3809A>C	c.(3808-3810)CAA>CCA	p.Q1270P		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	1270	PDZ-binding.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					GGGCTACAGTTGAGATCTCGA	0.393													G	50111946	T	G	50111946	3	3	109	1	0	0	0	0	1	0	0	0	4472	1812	63	5	10	5	DGKK	23	50111946	Missense_Mutation	SNP	T	TCGA-BR-8690-01A-11D-2394-08	17528058	50111946	105158614	167	74061											
MTMR8	55613	broad.mit.edu	37	chrX	63444310	63444310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcacaaggctctgcggaCgactaaacggacctgtgata	12	11	1	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:63444310C>T	uc011mou.1	-	11	2055	c.1987G>A	c.(1987-1989)GTC>ATC	p.V663I	ASB12_uc004dvp.1_Missense_Mutation_p.V279I|ASB12_uc004dvq.1_Missense_Mutation_p.V288I|ASB12_uc004dvr.1_Missense_Mutation_p.V288I	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	Error:Variant_position_missing_in_Q96EF0_after_alignment						nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						GCTCTGCGGACGACTAAACGG	0.493													T	63444310	C	T	63444310	3	4	109	1	0	0	0	0	1	0	0	0	9949	536	19	1		1	MTMR8	23	63444310	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	13332364	63444310	91826250	168	74062											
AR	367	broad.mit.edu	37	chrX	66765645	66765645	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggcctcgggggctcccacTtcctccaaggacaattactt	10	14	0	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:66765645T>G	uc004dwu.1	+	1	1772	c.657T>G	c.(655-657)ACT>ACG	p.T219T	AR_uc011mpd.1_Silent_p.T219T|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.T219T	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	217	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GGGCTCCCACTTCCTCCAAGG	0.602									Androgen_Insensitivity_Syndrome				G	66765645	T	G	66765645	2	3	109	1	0	0	0	0	0	0	0	1	836	1596	56	5		5	AR	23	66765645	Silent	SNP	T	TCGA-BR-8690-01A-11D-2394-08	3321335	66765645	88504915	169	74063											
AR	367	broad.mit.edu	37	chrX	66766242	66766242	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcgagcctgcatggcgcgggTgcagcgggacccggttctgg	19	12	1	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:66766242T>A	uc004dwu.1	+	1	2369	c.1254T>A	c.(1252-1254)GGT>GGA	p.G418G	AR_uc011mpd.1_Silent_p.G418G|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.G418G	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	416	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	ATGGCGCGGGTGCAGCGGGAC	0.662									Androgen_Insensitivity_Syndrome				A	66766242	T	A	66766242	2	1	109	1	0	0	0	0	0	0	0	1	836	1683	59	5		5	AR	23	66766242	Silent	SNP	T	TCGA-BR-8690-01A-11D-2394-08	597	66766242	88504318	170	74064											
MED12	9968	broad.mit.edu	37	chrX	70361778	70361778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcagcagcaacagacaGcagctttggtccggcaactt	10	14	0	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:70361778G>A	uc004dyy.2	+	44	6653	c.6454G>A	c.(6454-6456)GCA>ACA	p.A2152T	NLGN3_uc010nlb.1_5'Flank|NLGN3_uc004dzb.2_5'Flank|NLGN3_uc004dzc.2_5'Flank|MED12_uc004dyz.2_Missense_Mutation_p.A2151T|MED12_uc004dza.2_Missense_Mutation_p.A2002T|MED12_uc010nla.2_Missense_Mutation_p.A781T	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	2152	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					GCAACAGACAGCAGCTTTGGT	0.542													A	70361778	G	A	70361778	3	1	109	1	0	0	0	0	1	0	0	0	9428	971	34	2	6628	2	MED12	23	70361778	Missense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08	3595536	70361778	84908782	171	74065											
LPAR4	2846	broad.mit.edu	37	chrX	78011061	78011061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtgctgagaactcttcGcaagcctgctactctgtctc	10	12	3	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:78011061G>A	uc010nme.2	+	2	1100	c.695G>A	c.(694-696)CGC>CAC	p.R232H		NM_005296	NP_005287	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	232	Cytoplasmic (Potential).					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			ovary(3)	3						AGAACTCTTCGCAAGCCTGCT	0.373													A	78011061	G	A	78011061	3	1	109	1	0	0	0	0	1	0	0	0	8907	1087	38	1	697	1	LPAR4	23	78011061	Missense_Mutation	SNP	G	TCGA-BR-8690-01A-11D-2394-08	7649283	78011061	77259499	172	74066											
GUCY2F	2986	broad.mit.edu	37	chrX	108635293	108635293	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaagtcaaagccctcaggTtcaactgtgcagcccttttt	7	13	3	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:108635293T>C	uc004eod.3	-	14	2904	c.2628A>G	c.(2626-2628)GAA>GAG	p.E876E	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	876	Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						AGCCCTCAGGTTCAACTGTGC	0.488													C	108635293	T	C	108635293	2	2	109	1	0	0	0	0	0	0	0	1	6898	1722	60	3		3	GUCY2F	23	108635293	Silent	SNP	T	TCGA-BR-8690-01A-11D-2394-08	30624232	108635293	46635267	173	74067											
UTP14A	10813	broad.mit.edu	37	chrX	129060230	129060230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaggtttctcattaaagCccctgagggtcctccaagaa	8	12	1	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:129060230C>T	uc004euz.2	+	14	1986	c.1958C>T	c.(1957-1959)GCC>GTC	p.A653V	UTP14A_uc011mup.1_Missense_Mutation_p.A601V|UTP14A_uc011muq.1_Missense_Mutation_p.A599V	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	653					rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2						CTCATTAAAGCCCCTGAGGGT	0.473											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	129060230	C	T	129060230	3	4	109	1	0	0	0	0	1	0	0	0	17092	739	26	2	2012	2	UTP14A	23	129060230	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	20424937	129060230	26210330	174	74068											
MAGEC3	139081	broad.mit.edu	37	chrX	140953351	140953351	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaggggtggaacttcagatcAgcgaatggatagtcttgtcc	14	7	3	1			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:140953351A>T	uc011mwp.1	+	2	218	c.218A>T	c.(217-219)CAG>CTG	p.Q73L		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	73										skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTCAGATCAGCGAATGGAT	0.502													T	140953351	A	T	140953351	3	4	109	1	0	0	0	0	1	0	0	0	9182	188	7	5	224	5	MAGEC3	23	140953351	Missense_Mutation	SNP	A	TCGA-BR-8690-01A-11D-2394-08	11893121	140953351	14317209	175	74069											
GPR50	9248	broad.mit.edu	37	chrX	150349823	150349823	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatcgctgaccttcctgacCctactgtagtcactaccagt	6	16	1	2			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:150349823C>A	uc010ntg.1	+	2	1903	c.1768C>A	c.(1768-1770)CCT>ACT	p.P590T		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	590	Cytoplasmic (Potential).|Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTCCTGACCCTACTGTAGT	0.532													A	150349823	C	A	150349823	3	1	109	1	0	0	0	0	1	0	0	0	6697	623	22	5	1774	5	GPR50	23	150349823	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	9396472	150349823	4920737	176	74070											
GABRA3	2556	broad.mit.edu	37	chrX	151358276	151358276	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaaatagttgacagtggCaaattcaatcagtgcagaaa	11	5	2	3			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:151358276C>A	uc010ntk.1	-	9	1309	c.1069G>T	c.(1069-1071)GCC>TCC	p.A357S		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	357	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTGACAGTGGCAAATTCAATC	0.473													A	151358276	C	A	151358276	3	1	109	1	0	0	0	0	1	0	0	0	6162	710	25	5	417	5	GABRA3	23	151358276	Missense_Mutation	SNP	C	TCGA-BR-8690-01A-11D-2394-08	1008453	151358276	3912284	177	74071											
MAGEA6	4105	broad.mit.edu	37	chrX	151869654	151869654	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actcagtaggaaggtggccaAgttggttcattttctgctcc	11	9	3	0			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:151869654A>T	uc004ffq.1	+	3	538	c.344A>T	c.(343-345)AAG>ATG	p.K115M	MAGEA6_uc004ffr.1_Missense_Mutation_p.K115M|MAGEA2_uc010nto.2_Intron	NM_005363	NP_005354	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	115	MAGE.						protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGTGGCCAAGTTGGTTCAT	0.532													T	151869654	A	T	151869654	3	4	109	1	0	0	0	0	1	0	0	0	9170	72	3	5	346	5	MAGEA6	23	151869654	Missense_Mutation	SNP	A	TCGA-BR-8690-01A-11D-2394-08	511378	151869654	3400906	178	74072											
F8	2157	broad.mit.edu	37	chrX	154225313	154225313	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggatgggaagccatgttcTtaagtgtaatgaccactgta	11	7	1	1	rs137852384		TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:154225313T>G	uc004fmt.2	-	3	494	c.323A>C	c.(322-324)AAG>ACG	p.K108T	F8_uc011mzx.1_Missense_Mutation_p.K73T	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	108	Plastocyanin-like 1.|F5/8 type A 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGCCATGTTCTTAAGTGTAAT	0.453													G	154225313	T	G	154225313	3	3	109	1	0	0	0	0	1	0	0	0	5350	1609	56	5	6856	5	F8	23	154225313	Missense_Mutation	SNP	T	TCGA-BR-8690-01A-11D-2394-08	2355659	154225313	1045247	179	74073											
EIF2C1	26523	broad.mit.edu	37	chr1	36359356	36359356	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgggcgcgaggtctggttCggctttcaccagtctgtgcg	17	10	3	0			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr1:36359356C>T	uc001bzl.2	+	5	807	c.594C>T	c.(592-594)TTC>TTT	p.F198F	EIF2C1_uc001bzk.2_Silent_p.F123F|EIF2C1_uc009vuy.2_5'Flank	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	198					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGGTCTGGTTCGGCTTTCACC	0.632													T	36359356	C	T	36359356	2	4	110	1	0	0	0	0	0	0	0	1	5005	883	31	1		1	EIF2C1	1	36359356	Silent	SNP	C	TCGA-BR-A44T-01A-32D-A24D-08		36359356	212891265	1	74074											
ADCY10	55811	broad.mit.edu	37	chr1	167839531	167839531	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccaggtactcaattttcAtaagtatctggctttttcca	8	9	3	0			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr1:167839531A>G	uc001ger.2	-	14	1878	c.1580T>C	c.(1579-1581)ATG>ACG	p.M527T	ADCY10_uc009wvk.2_Missense_Mutation_p.M435T|ADCY10_uc010plj.1_Missense_Mutation_p.M374T|ADCY10_uc009wvl.2_Missense_Mutation_p.M526T	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	527					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						CTCAATTTTCATAAGTATCTG	0.368													G	167839531	A	G	167839531	3	3	110	1	0	0	0	0	1	0	0	0	293	217	8	3	3332	3	ADCY10	1	167839531	Missense_Mutation	SNP	A	TCGA-BR-A44T-01A-32D-A24D-08	131480175	167839531	81411090	2	74075											
DYSF	8291	broad.mit.edu	37	chr2	71797446	71797446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggtccacagacctcaacCgggctgtcgatgagcaaggt	12	11	1	2			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr2:71797446C>T	uc002sie.2	+	28	3389	c.3013C>T	c.(3013-3015)CGG>TGG	p.R1005W	DYSF_uc010feg.2_Missense_Mutation_p.R1036W|DYSF_uc010feh.2_Missense_Mutation_p.R991W|DYSF_uc002sig.3_Missense_Mutation_p.R991W|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R1005W|DYSF_uc010fef.2_Missense_Mutation_p.R1022W|DYSF_uc010fei.2_Missense_Mutation_p.R1022W|DYSF_uc010fek.2_Missense_Mutation_p.R1023W|DYSF_uc010fej.2_Missense_Mutation_p.R992W|DYSF_uc010fel.2_Missense_Mutation_p.R992W|DYSF_uc010feo.2_Missense_Mutation_p.R1037W|DYSF_uc010fem.2_Missense_Mutation_p.R1006W|DYSF_uc010fen.2_Missense_Mutation_p.R1023W|DYSF_uc002sif.2_Missense_Mutation_p.R1006W	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1005	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						AGACCTCAACCGGGCTGTCGA	0.592													T	71797446	C	T	71797446	3	4	110	1	0	0	0	0	1	0	0	0	4859	643	23	1	3315	1	DYSF	2	71797446	Missense_Mutation	SNP	C	TCGA-BR-A44T-01A-32D-A24D-08		71797446	171401927	3	74076											
RMND5A	64795	broad.mit.edu	37	chr2	86998770	86998770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaacagataacaatccaccCatgaaattggtctgtggtca	7	10	2	2			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr2:86998770C>T	uc010ytm.1	+	8	1424	c.1047C>T	c.(1045-1047)CCC>CCT	p.P349P	RMND5A_uc002srs.3_Intron|RMND5A_uc002srr.2_Silent_p.P349P	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog	349										ovary(1)|skin(1)	2						ACAATCCACCCATGAAATTGG	0.353													T	86998770	C	T	86998770	2	4	110	1	0	0	0	0	0	0	0	1	13397	581	21	4		4	RMND5A	2	86998770	Silent	SNP	C	TCGA-BR-A44T-01A-32D-A24D-08	15201324	86998770	156200603	4	74077											
CEP63	80254	broad.mit.edu	37	chr3	134256014	134256014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaattccgtcagaaatcGctggactgggagaagcaacg	13	9	1	2			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr3:134256014G>A	uc003eqo.1	+	7	908	c.459G>A	c.(457-459)TCG>TCA	p.S153S	CEP63_uc003eql.1_Silent_p.S153S|CEP63_uc003eqm.2_Silent_p.S153S|CEP63_uc003eqn.1_Silent_p.S153S	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	153	Potential.				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			ovary(1)	1						GTCAGAAATCGCTGGACTGGG	0.443													A	134256014	G	A	134256014	2	1	110	1	0	0	0	0	0	0	0	1	3257	1074	38	1		1	CEP63	3	134256014	Silent	SNP	G	TCGA-BR-A44T-01A-32D-A24D-08		134256014	63766416	5	74078											
RFC1	5981	broad.mit.edu	37	chr4	39310272	39310272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccgtgttttttatcttcGgaagaactcttttgccagtt	7	9	3	1			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr4:39310272G>A	uc003gty.1	-	13	2003	c.1869C>T	c.(1867-1869)TCC>TCT	p.S623S	RFC1_uc003gtx.1_Silent_p.S623S	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	623					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4						TTTTATCTTCGGAAGAACTCT	0.428													A	39310272	G	A	39310272	2	1	110	1	0	0	0	0	0	0	0	1	13244	1103	39	1		1	RFC1	4	39310272	Silent	SNP	G	TCGA-BR-A44T-01A-32D-A24D-08		39310272	151844004	6	74079											
GABRB1	2560	broad.mit.edu	37	chr4	47427792	47427792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgaccccaaggccaccatGtactcctatgacagcgccag	9	16	0	1			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr4:47427792G>A	uc003gxh.2	+	9	1556	c.1182G>A	c.(1180-1182)ATG>ATA	p.M394I	GABRB1_uc011bze.1_Missense_Mutation_p.M324I	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	394	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGGCCACCATGTACTCCTATG	0.652													A	47427792	G	A	47427792	3	1	110	1	0	0	0	0	1	0	0	0	6166	1377	48	4	1216	4	GABRB1	4	47427792	Missense_Mutation	SNP	G	TCGA-BR-A44T-01A-32D-A24D-08	8117520	47427792	143726484	7	74080											
PCDHB3	56132	broad.mit.edu	37	chr5	140482357	140482357	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttttcggtgctcctgttCgtggcggtgcggctgtgcag	15	11	1	0			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr5:140482357C>T	uc003lio.2	+	1	2124	c.2124C>T	c.(2122-2124)TTC>TTT	p.F708F	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	708	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGTTCGTGGCGGTGC	0.687													T	140482357	C	T	140482357	2	4	110	1	0	0	0	0	0	0	0	1	11543	883	31	1		1	PCDHB3	5	140482357	Silent	SNP	C	TCGA-BR-A44T-01A-32D-A24D-08		140482357	40432903	8	74081											
FAT2	2196	broad.mit.edu	37	chr5	150901071	150901071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggatgctagctcctgaaactCgtagaaggttccagaatgcc	11	10	0	3	rs61743252		TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr5:150901071C>T	uc003lue.3	-	18	11096	c.11083G>A	c.(11083-11085)GAG>AAG	p.E3695K	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.E388K	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3695	Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCTGAAACTCGTAGAAGGTT	0.567													T	150901071	C	T	150901071	3	4	110	1	0	0	0	0	1	0	0	0	5690	893	31	1	1990	1	FAT2	5	150901071	Missense_Mutation	SNP	C	TCGA-BR-A44T-01A-32D-A24D-08	10418714	150901071	30014189	9	74082											
IRF4	3662	broad.mit.edu	37	chr6	398916	398916	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccaagcataaggtctgcCgaagccttggcgttctcagg	13	11	2	0			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr6:398916C>T	uc003msz.3	+	6	839	c.726C>T	c.(724-726)GCC>GCT	p.A242A	IRF4_uc010jne.1_Silent_p.A242A|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Silent_p.A241A|IRF4_uc003mtc.1_Silent_p.A72A	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	242					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		TAAGGTCTGCCGAAGCCTTGG	0.587			T	IGH@	MM 								T	398916	C	T	398916	2	4	110	1	0	0	0	0	0	0	0	1	7832	639	23	1		1	IRF4	6	398916	Silent	SNP	C	TCGA-BR-A44T-01A-32D-A24D-08		398916	170716151	10	74083											
RFX6	222546	broad.mit.edu	37	chr6	117246619	117246619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaaactctttccagatgCgagtaaagctgctttcactg	7	9	2	1			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr6:117246619C>T	uc003pxm.2	+	16	1745	c.1682C>T	c.(1681-1683)GCG>GTG	p.A561V		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	561					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						TTTCCAGATGCGAGTAAAGCT	0.393													T	117246619	C	T	117246619	3	4	110	1	0	0	0	0	1	0	0	0	13267	768	27	1	1744	1	RFX6	6	117246619	Missense_Mutation	SNP	C	TCGA-BR-A44T-01A-32D-A24D-08	116847703	117246619	53868448	11	74084											
TBP	6908	broad.mit.edu	37	chr6	170873698	170873698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaccattgcacttcgtgcccGaaacgccgaatataatccca	7	14	0	0			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr6:170873698G>A	uc003qxt.2	+	4	795	c.563G>A	c.(562-564)CGA>CAA	p.R188Q	TBP_uc003qxu.2_Missense_Mutation_p.R188Q|TBP_uc011ehf.1_Missense_Mutation_p.R168Q	NM_003194	NP_003185	P20226	TBP_HUMAN	TATA box binding protein	188	1.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		CTTCGTGCCCGAAACGCCGAA	0.323													A	170873698	G	A	170873698	3	1	110	1	0	0	0	0	1	0	0	0	15641	1058	37	1	573	1	TBP	6	170873698	Missense_Mutation	SNP	G	TCGA-BR-A44T-01A-32D-A24D-08	53627079	170873698	241369	12	74085											
TMEM168	64418	broad.mit.edu	37	chr7	112424364	112424364	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcagagacttctccaccaAcatagttgtgctggcaatgg	9	11	2	1			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr7:112424364A>G	uc003vgn.2	-	2	909	c.517T>C	c.(517-519)TTG>CTG	p.L173L	TMEM168_uc010lju.2_Silent_p.L173L|TMEM168_uc011kmr.1_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	transmembrane protein 168	173	Helical; (Potential).					integral to membrane|transport vesicle				ovary(1)|central_nervous_system(1)	2						TTCTCCACCAACATAGTTGTG	0.418													G	112424364	A	G	112424364	2	3	110	1	0	0	0	0	0	0	0	1	16080	40	2	3		3	TMEM168	7	112424364	Silent	SNP	A	TCGA-BR-A44T-01A-32D-A24D-08		112424364	46714299	13	74086											
AASS	10157	broad.mit.edu	37	chr7	121717920	121717920	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacattttggctgccatggcGgtgggtaaccccacggtttt	12	10	0	0			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr7:121717920G>A	uc003vka.2	-	22	2730	c.2634C>T	c.(2632-2634)ACC>ACT	p.T878T	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.T878T|AASS_uc011knw.1_Silent_p.T366T	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	878	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTGCCATGGCGGTGGGTAACC	0.463													A	121717920	G	A	121717920	2	1	110	1	0	0	0	0	0	0	0	1	24	1103	39	1		1	AASS	7	121717920	Silent	SNP	G	TCGA-BR-A44T-01A-32D-A24D-08	9293556	121717920	37420743	14	74087											
CCDC3	83643	broad.mit.edu	37	chr10	12940586	12940586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcgctcccggagctgccGgttgcgcttctccagggtgg	14	15	1	0			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr10:12940586G>A	uc001ilq.1	-	3	777	c.643C>T	c.(643-645)CGG>TGG	p.R215W	CCDC3_uc009xjb.1_RNA|CCDC3_uc001ilr.2_RNA|CCDC3_uc009xjc.1_RNA	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3 precursor	215	Potential.					endoplasmic reticulum|extracellular region				ovary(1)	1		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			CGGAGCTGCCGGTTGCGCTTC	0.602													A	12940586	G	A	12940586	3	1	110	1	0	0	0	0	1	0	0	0	2804	1115	39	1	173	1	CCDC3	10	12940586	Missense_Mutation	SNP	G	TCGA-BR-A44T-01A-32D-A24D-08		12940586	122594161	15	74088											
LYZL1	84569	broad.mit.edu	37	chr10	29581519	29581519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctggatgacggcagcatcGactatggcatcttccagatc	10	12	1	2			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr10:29581519G>A	uc001iul.2	+	3	406	c.349G>A	c.(349-351)GAC>AAC	p.D117N		NM_032517	NP_115906	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	71		By similarity.			cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0		Breast(68;0.203)				CGGCAGCATCGACTATGGCAT	0.577													A	29581519	G	A	29581519	3	1	110	1	0	0	0	0	1	0	0	0	9131	1058	37	1	359	1	LYZL1	10	29581519	Missense_Mutation	SNP	G	TCGA-BR-A44T-01A-32D-A24D-08	16640933	29581519	105953228	16	74089											
PCDH15	65217	broad.mit.edu	37	chr10	55780164	55780164	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agacacatttgctccaaggtCgacatctttggcctgtaata	8	10	1	1			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr10:55780164C>A	uc001jju.1	-	20	2934	c.2539G>T	c.(2539-2541)GAC>TAC	p.D847Y	PCDH15_uc010qhq.1_Missense_Mutation_p.D852Y|PCDH15_uc010qhr.1_Missense_Mutation_p.D847Y|PCDH15_uc010qhs.1_Missense_Mutation_p.D859Y|PCDH15_uc010qht.1_Missense_Mutation_p.D854Y|PCDH15_uc010qhu.1_Missense_Mutation_p.D847Y|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.D847Y|PCDH15_uc010qhw.1_Missense_Mutation_p.D810Y|PCDH15_uc010qhx.1_Missense_Mutation_p.D776Y|PCDH15_uc010qhy.1_Missense_Mutation_p.D852Y|PCDH15_uc010qhz.1_Missense_Mutation_p.D847Y|PCDH15_uc010qia.1_Missense_Mutation_p.D825Y|PCDH15_uc010qib.1_Missense_Mutation_p.D825Y|PCDH15_uc001jjw.2_Missense_Mutation_p.D847Y	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	847	Extracellular (Potential).|Cadherin 8.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTCCAAGGTCGACATCTTTG	0.403										HNSCC(58;0.16)			A	55780164	C	A	55780164	3	1	110	1	0	0	0	0	1	0	0	0	11511	884	31	5	5003	5	PCDH15	10	55780164	Missense_Mutation	SNP	C	TCGA-BR-A44T-01A-32D-A24D-08	26198645	55780164	79754583	17	74090											
ZNF365	22891	broad.mit.edu	37	chr10	64159467	64159467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacctccaaagaaaggggaGctcctggggtttggccgcaa	14	10	0	2			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr10:64159467G>A	uc001jly.3	+	5	1250	c.1188G>A	c.(1186-1188)GAG>GAA	p.E396E	ZNF365_uc001jmb.3_Intron|ZNF365_uc001jmc.2_Intron|ZNF365_uc001jlz.3_Silent_p.E381E|ZNF365_uc001jma.3_RNA	NM_014951	NP_055766	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform A	Error:Variant_position_missing_in_Q70YC4_after_alignment										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGAAAGGGGAGCTCCTGGGGT	0.527													A	64159467	G	A	64159467	2	1	110	1	0	0	0	0	0	0	0	1	17866	962	34	2		2	ZNF365	10	64159467	Silent	SNP	G	TCGA-BR-A44T-01A-32D-A24D-08	8379303	64159467	71375280	18	74091											
JMJD1C	221037	broad.mit.edu	37	chr10	64968251	64968251	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttgatgatatggctttTaggactggaagatgatgatg	13	2	0	5	rs149833441	by1000genomes	TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr10:64968251T>C	uc001jmn.2	-	10	3478	c.3178A>G	c.(3178-3180)AAA>GAA	p.K1060E	JMJD1C_uc001jml.2_Missense_Mutation_p.K841E|JMJD1C_uc001jmm.2_Missense_Mutation_p.K772E|JMJD1C_uc010qiq.1_Missense_Mutation_p.K878E|JMJD1C_uc009xpi.2_Missense_Mutation_p.K878E|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.K97E	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1060					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATATGGCTTTTAGGACTGGAA	0.388													C	64968251	T	C	64968251	3	2	110	1	0	0	0	0	1	0	0	0	7950	1763	61	3	4512	3	JMJD1C	10	64968251	Missense_Mutation	SNP	T	TCGA-BR-A44T-01A-32D-A24D-08	808784	64968251	70566496	19	74092											
DNMBP	23268	broad.mit.edu	37	chr10	101716054	101716054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctgtggcaagaggcatttCccactccacgcctgggcttc	11	14	1	1			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr10:101716054C>T	uc001kqj.2	-	4	1269	c.1177G>A	c.(1177-1179)GAA>AAA	p.E393K	NCRNA00093_uc001kqk.1_Intron	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	393					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AGAGGCATTTCCCACTCCACG	0.537													T	101716054	C	T	101716054	3	4	110	1	0	0	0	0	1	0	0	0	4674	864	30	4	3612	4	DNMBP	10	101716054	Missense_Mutation	SNP	C	TCGA-BR-A44T-01A-32D-A24D-08	36747803	101716054	33818693	20	74093											
ZFYVE26	23503	broad.mit.edu	37	chr14	68222803	68222803	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagttctccaaagtgtgtagCttcccacttttatagcttgg	8	9	1	0			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr14:68222803C>T	uc001xka.2	-	36	6787	c.6648G>A	c.(6646-6648)AAG>AAA	p.K2216K	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Silent_p.K62K	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2216					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AAGTGTGTAGCTTCCCACTTT	0.463													T	68222803	C	T	68222803	2	4	110	1	0	0	0	0	0	0	0	1	17665	796	28	2		2	ZFYVE26	14	68222803	Silent	SNP	C	TCGA-BR-A44T-01A-32D-A24D-08		68222803	39126737	21	74094											
CDH1	999	broad.mit.edu	37	chr16	68844154	68844154	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagttgaggatccaatggagAttttgatcacggtaaccgat	11	7	1	3			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr16:68844154A>T	uc002ewg.1	+	6	866	c.742A>T	c.(742-744)ATT>TTT	p.I248F	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.I248F	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	248	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TCCAATGGAGATTTTGATCAC	0.483			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				T	68844154	A	T	68844154	3	4	110	1	0	0	0	0	1	0	0	0	3095	333	12	5	764	5	CDH1	16	68844154	Missense_Mutation	SNP	A	TCGA-BR-A44T-01A-32D-A24D-08		68844154	21510599	22	74095											
LRRC8E	80131	broad.mit.edu	37	chr19	7965138	7965138	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtctggttgccctgaacagCctcaagaagctggcggcatt	12	12	2	2			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr19:7965138C>T	uc002mir.2	+	3	1832	c.1731C>T	c.(1729-1731)AGC>AGT	p.S577S		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	577	LRR 3.					integral to membrane				lung(1)|pancreas(1)	2						CCCTGAACAGCCTCAAGAAGC	0.662													T	7965138	C	T	7965138	2	4	110	1	0	0	0	0	0	0	0	1	9025	738	26	2		2	LRRC8E	19	7965138	Silent	SNP	C	TCGA-BR-A44T-01A-32D-A24D-08		7965138	51163845	23	74096											
ICAM5	7087	broad.mit.edu	37	chr19	10403881	10403881	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgcaaggcggccaatgAtcaaggcgaggcggtcaagg	16	11	2	1			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr19:10403881A>T	uc002mnu.3	+	6	1489	c.1424A>T	c.(1423-1425)GAT>GTT	p.D475V	ICAM5_uc002mnv.3_Missense_Mutation_p.D350V	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	475	Extracellular (Potential).|Ig-like C2-type 5.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCGGCCAATGATCAAGGCGAG	0.652													T	10403881	A	T	10403881	3	4	110	1	0	0	0	0	1	0	0	0	7483	333	12	5	1446	5	ICAM5	19	10403881	Missense_Mutation	SNP	A	TCGA-BR-A44T-01A-32D-A24D-08	2438743	10403881	48725102	24	74097											
ZNF536	9745	broad.mit.edu	37	chr19	31039733	31039733	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgggcctctccaatatgatCagctctctagactctgcttc	7	14	4	2			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr19:31039733C>A	uc002nsu.1	+	4	3345	c.3207C>A	c.(3205-3207)ATC>ATA	p.I1069I	ZNF536_uc010edd.1_Silent_p.I1069I	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1069					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CCAATATGATCAGCTCTCTAG	0.567													A	31039733	C	A	31039733	2	1	110	1	0	0	0	0	0	0	0	1	17971	816	29	5		5	ZNF536	19	31039733	Silent	SNP	C	TCGA-BR-A44T-01A-32D-A24D-08	20635852	31039733	28089250	25	74098											
EGLN2	112398	broad.mit.edu	37	chr19	41292793	41292793	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggctctggcattcagtaCggggatgcgtccctccgcca	13	13	2	0	rs138702952		TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr19:41292793C>T	uc010ehd.2	+	7	677	c.-324C>T	c.(-326--322)TACGG>TATGG		RAB4B_uc002opc.1_RNA|RAB4B_uc002opd.1_Silent_p.Y189Y|RAB4B_uc002ope.1_RNA|RAB4B_uc002opf.1_Silent_p.Y215Y	NM_080732	NP_542770	Q96KS0	EGLN2_HUMAN	EGL nine (C.elegans) homolog 2						cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GCATTCAGTACGGGGATGCGT	0.682													T	41292793	C	T	41292793	1	4	110	1	0	0	0	0	0	0	0	0	4969	547	19	1		1	EGLN2	19	41292793	Translation_Start_Site	SNP	C	TCGA-BR-A44T-01A-32D-A24D-08	10253060	41292793	17836190	26	74099											
DUSP18	150290	broad.mit.edu	37	chr22	31059889	31059889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatgagcttgttgttggcGgccacaccattgctgatata	11	9	0	2			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chr22:31059889G>A	uc003aiu.2	-	2	603	c.102C>T	c.(100-102)GCC>GCT	p.A34A	SLC35E4_uc003ait.2_Intron|DUSP18_uc010gwa.1_RNA|DUSP18_uc003aiw.1_Silent_p.A34A	NM_152511	NP_689724	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	34						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0						TGTTGTTGGCGGCCACACCAT	0.522													A	31059889	G	A	31059889	2	1	110	1	0	0	0	0	0	0	0	1	4817	1103	39	1		1	DUSP18	22	31059889	Silent	SNP	G	TCGA-BR-A44T-01A-32D-A24D-08		31059889	20244677	27	74100											
MSL3	10943	broad.mit.edu	37	chrX	11780981	11780981	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacttccatgccagaccaAcatcataacgattttggaat	6	10	1	1			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chrX:11780981A>G	uc004cuw.2	+	7	719	c.614A>G	c.(613-615)AAC>AGC	p.N205S	MSL3_uc004cuv.1_Missense_Mutation_p.N205S|MSL3_uc004cux.2_Missense_Mutation_p.N146S|MSL3_uc011mig.1_Missense_Mutation_p.N56S|MSL3_uc011mih.1_Missense_Mutation_p.N193S|MSL3_uc004cuy.2_Missense_Mutation_p.N39S|MSL3_uc011mii.1_Missense_Mutation_p.N39S	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3-like 1 isoform a	205					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TGCCAGACCAACATCATAACG	0.408													G	11780981	A	G	11780981	3	3	110	1	0	0	0	0	1	0	0	0	9879	43	2	3	640	3	MSL3	23	11780981	Missense_Mutation	SNP	A	TCGA-BR-A44T-01A-32D-A24D-08		11780981	143489579	28	74101											
SHROOM4	57477	broad.mit.edu	37	chrX	50376561	50376561	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atatgattggtctgtggcatGatatggttggtctgcggaat	14	4	2	2			TCGA-BR-A44T-01A-32D-A24D-08	TCGA-BR-A44T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ce42ea-840a-4163-b78f-c911a0d95839	e741ed6d-93bc-4a36-b2b4-6e9368ef4455	g.chrX:50376561G>T	uc004dpe.2	-	4	2538	c.2512C>A	c.(2512-2514)CAT>AAT	p.H838N	SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.H722N	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	838					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					TCTGTGGCATGATATGGTTGG	0.448													T	50376561	G	T	50376561	3	4	110	1	0	0	0	0	1	0	0	0	14296	1290	45	5	1993	5	SHROOM4	23	50376561	Missense_Mutation	SNP	G	TCGA-BR-A44T-01A-32D-A24D-08	38595580	50376561	104893999	29	74102											
CSMD2	114784	broad.mit.edu	37	chr1	34090854	34090854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgctggttcgaggaaccGctgtgggggacaagggcact	18	9	0	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr1:34090854G>A	uc001bxn.1	-	34	5206	c.5177C>T	c.(5176-5178)GCG>GTG	p.A1726V	CSMD2_uc001bxm.1_Missense_Mutation_p.A1766V|CSMD2_uc001bxo.1_Missense_Mutation_p.A639V	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1726	Extracellular (Potential).|CUB 10.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCGAGGAACCGCTGTGGGGGA	0.632													A	34090854	G	A	34090854	3	1	111	1	0	0	0	0	1	0	0	0	3945	1101	38	1	5430	1	CSMD2	1	34090854	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08		34090854	215159767	1	74103											
CHIA	27159	broad.mit.edu	37	chr1	111862020	111862020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctggatgacttcactggCactttctgcaaccagggcaa	10	11	3	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr1:111862020C>T	uc001eas.2	+	11	1210	c.1107C>T	c.(1105-1107)GGC>GGT	p.G369G	CHIA_uc001ear.2_Silent_p.G261G|CHIA_uc001eaq.2_Silent_p.G261G|CHIA_uc009wgc.2_Silent_p.G261G|CHIA_uc001eat.2_Silent_p.G208G|CHIA_uc001eav.2_Silent_p.G208G|CHIA_uc001eau.2_Silent_p.G208G|CHIA_uc009wgd.2_Silent_p.G208G	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN	acidic chitinase isoform c	369					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			ovary(1)	1		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		ACTTCACTGGCACTTTCTGCA	0.512													T	111862020	C	T	111862020	2	4	111	1	0	0	0	0	0	0	0	1	3342	697	25	2		2	CHIA	1	111862020	Silent	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	77771166	111862020	137388601	2	74104											
FLG2	388698	broad.mit.edu	37	chr1	152327441	152327441	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaagtctgtcctgaacTtgacccatgttgaccatagc	7	12	1	3			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr1:152327441T>G	uc001ezw.3	-	3	2894	c.2821A>C	c.(2821-2823)AGT>CGT	p.S941R	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	941	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGAACTTGACCCATGT	0.493													G	152327441	T	G	152327441	3	3	111	1	0	0	0	0	1	0	0	0	5923	1609	56	5	4358	5	FLG2	1	152327441	Missense_Mutation	SNP	T	TCGA-BR-A44U-01A-11D-A24D-08	40465421	152327441	96923180	3	74105											
INTS3	65123	broad.mit.edu	37	chr1	153723611	153723611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcctcattgccatggctGtttacacgtacctccgcctc	7	16	1	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr1:153723611G>A	uc009wom.2	+	8	846	c.625G>A	c.(625-627)GTT>ATT	p.V209I	INTS3_uc001fct.2_Missense_Mutation_p.V209I|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_Missense_Mutation_p.V3I|INTS3_uc010peb.1_Missense_Mutation_p.V3I|INTS3_uc001fcw.2_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	210					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGCCATGGCTGTTTACACGTA	0.557													A	153723611	G	A	153723611	3	1	111	1	0	0	0	0	1	0	0	0	7779	1377	48	4	651	4	INTS3	1	153723611	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	1396170	153723611	95527010	4	74106											
PAPPA2	60676	broad.mit.edu	37	chr1	176563946	176563946	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacagccccttcatggcatcTtgccgctctttgctcctggg	9	15	3	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr1:176563946T>G	uc001gkz.2	+	3	2370	c.1206T>G	c.(1204-1206)TCT>TCG	p.S402S	PAPPA2_uc001gky.1_Silent_p.S402S|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	402					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						TCATGGCATCTTGCCGCTCTT	0.587													G	176563946	T	G	176563946	2	3	111	1	0	0	0	0	0	0	0	1	11433	1596	56	5		5	PAPPA2	1	176563946	Silent	SNP	T	TCGA-BR-A44U-01A-11D-A24D-08	22840335	176563946	72686675	5	74107											
KCNT2	343450	broad.mit.edu	37	chr1	196342281	196342281	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatacttactgccctctagaGgtatgaaccagtagtgtaat	8	8	1	2			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr1:196342281G>T	uc001gtd.1	-	14	1452	c.1392C>A	c.(1390-1392)ACC>ACA	p.T464T	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.T464T|KCNT2_uc001gtf.1_Silent_p.T464T|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.T464T|KCNT2_uc009wyv.1_Silent_p.T439T	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	464	Cytoplasmic (Potential).|RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						GCCCTCTAGAGGTATGAACCA	0.313													T	196342281	G	T	196342281	2	4	111	1	0	0	0	0	0	0	0	1	8092	987	35	5		5	KCNT2	1	196342281	Silent	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	19778335	196342281	52908340	6	74108											
CFH	3075	broad.mit.edu	37	chr1	196695659	196695659	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgggaatgttaaggaaaaaAcgaaagaagaatatggacac	11	3	0	2			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr1:196695659A>G	uc001gtj.3	+	13	2173	c.1933A>G	c.(1933-1935)ACG>GCG	p.T645A		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	645	Sushi 11.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						TAAGGAAAAAACGAAAGAAGA	0.353													G	196695659	A	G	196695659	3	3	111	1	0	0	0	0	1	0	0	0	3283	43	2	3	2001	3	CFH	1	196695659	Missense_Mutation	SNP	A	TCGA-BR-A44U-01A-11D-A24D-08	353378	196695659	52554962	7	74109											
GPATCH2	55105	broad.mit.edu	37	chr1	217622646	217622646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctccgtttgatatctccCgtgcataaggatcctaaatg	7	11	2	1	rs34341444		TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr1:217622646C>T	uc001hlf.1	-	9	1407	c.1311G>A	c.(1309-1311)ACG>ACA	p.T437T	GPATCH2_uc009xdq.1_RNA	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	437						intracellular	nucleic acid binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TGATATCTCCCGTGCATAAGG	0.383													T	217622646	C	T	217622646	2	4	111	1	0	0	0	0	0	0	0	1	6591	639	23	1		1	GPATCH2	1	217622646	Silent	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	20926987	217622646	31627975	8	74110											
EXOC8	149371	broad.mit.edu	37	chr1	231472437	231472438	+	Frame_Shift_Del	DEL	TC	TC	-													ggtcaaccgccccttcaaagTctctctgcgcaatgcagaca							TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr1:231472436_231472437GTC>G	uc001huq.3	-	0	1142_1143	c.1055_1056GAC>C	c.(1054-1056)gacfs	p.D352fs		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	Homo sapiens exocyst complex component 8 (EXOC8), mRNA.	352					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CCCCTTCAAAGTCTCTCTGCGC	0.505													-	231472438	TC	-	231472437	7	5	111	1	0	1	0	1	0	0	0	0	5311	1667	58	0	1126	0	EXOC8	1	231472437	Frame_Shift_Del	DEL	TC	TCGA-BR-A44U-01A-11D-A24D-08	13849791	231472437	17778184	9	74111											
PSME4	23198	broad.mit.edu	37	chr2	54128631	54128631	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccacgtctgtacaatacaGtcccaatcatgaaggtttgc	9	11	2	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr2:54128631G>T	uc002rxp.2	-	28	3197	c.3141C>A	c.(3139-3141)GAC>GAA	p.D1047E	PSME4_uc010yop.1_Missense_Mutation_p.D933E|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.D422E|PSME4_uc010fbv.1_Missense_Mutation_p.D191E	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1047					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTACAATACAGTCCCAATCAT	0.433													T	54128631	G	T	54128631	3	4	111	1	0	0	0	0	1	0	0	0	12709	1020	36	5	2466	5	PSME4	2	54128631	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08		54128631	189070742	10	74112											
GLI2	2736	broad.mit.edu	37	chr2	121747767	121747767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcgatgggcaacatggggtCggtgcctccccagccgcctc	14	15	0	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr2:121747767C>T	uc010flp.2	+	13	4307	c.4277C>T	c.(4276-4278)TCG>TTG	p.S1426L	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.S1098L|GLI2_uc002tmu.3_Missense_Mutation_p.S1081L	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1426					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				AACATGGGGTCGGTGCCTCCC	0.657													T	121747767	C	T	121747767	3	4	111	1	0	0	0	0	1	0	0	0	6438	893	31	1	4327	1	GLI2	2	121747767	Missense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	67619136	121747767	121451606	11	74113											
LRP1B	53353	broad.mit.edu	37	chr2	141660732	141660732	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tccattgttcagcgaacactCatctataaaaaggggggaac	9	9	3	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr2:141660732C>G	uc002tvj.1	-	23	4495	c.3523G>C	c.(3523-3525)GAG>CAG	p.E1175Q	LRP1B_uc010fnl.1_Missense_Mutation_p.E357Q	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1175	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGCGAACACTCATCTATAAAA	0.408										TSP Lung(27;0.18)			G	141660732	C	G	141660732	3	3	111	1	0	0	0	0	1	0	0	0	8955	835	29	5	10552	5	LRP1B	2	141660732	Missense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	19912965	141660732	101538641	12	74114											
ARHGAP15	55843	broad.mit.edu	37	chr2	143974011	143974011	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcagatggaggaaagaaacTaaggtaataaaattctttaa	9	3	1	2			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr2:143974011T>A	uc002tvm.3	+	4	444	c.293T>A	c.(292-294)CTA>CAA	p.L98Q	ARHGAP15_uc010zbl.1_Missense_Mutation_p.L98Q	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	98	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)		GGAAAGAAACTAAGGTAATAA	0.338													A	143974011	T	A	143974011	3	1	111	1	0	0	0	0	1	0	0	0	866	1522	53	5	303	5	ARHGAP15	2	143974011	Missense_Mutation	SNP	T	TCGA-BR-A44U-01A-11D-A24D-08	2313279	143974011	99225362	13	74115											
KIF5C	3800	broad.mit.edu	37	chr2	149818628	149818628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggagctaaacaggtggaGgaatggtaaggaaaagtaag	16	2	0	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr2:149818628G>A	uc010zbu.1	+	11	1480	c.1112G>A	c.(1111-1113)AGG>AAG	p.R371K	KIF5C_uc002tws.1_RNA	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	371	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)		AACAGGTGGAGGAATGGTAAG	0.299													A	149818628	G	A	149818628	3	1	111	1	0	0	0	0	1	0	0	0	8307	1000	35	4	1076	4	KIF5C	2	149818628	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	5844617	149818628	93380745	14	74116											
SCN7A	6332	broad.mit.edu	37	chr2	167284334	167284334	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagagtaacaagcccaatAaaacacttaaaccaattgtt	5	9	0	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr2:167284334A>G	uc002udu.1	-	17	2944	c.2817T>C	c.(2815-2817)TTT>TTC	p.F939F	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	939	Helical; Name=S1 of repeat III; (By similarity).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						CAAGCCCAATAAAACACTTAA	0.428													G	167284334	A	G	167284334	2	3	111	1	0	0	0	0	0	0	0	1	13923	359	13	3		3	SCN7A	2	167284334	Silent	SNP	A	TCGA-BR-A44U-01A-11D-A24D-08	17465706	167284334	75915039	15	74117											
TTN	7273	broad.mit.edu	37	chr2	179604547	179604547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaagcatccctaagttcCattttcaggttagccatttg	6	11	1	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr2:179604547C>T	uc010zfh.1	-	46	13124	c.12900G>A	c.(12898-12900)ATG>ATA	p.M4300I	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.M4233I|TTN_uc010zfj.1_Missense_Mutation_p.M4108I|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCTAAGTTCCATTTTCAGGT	0.393													T	179604547	C	T	179604547	3	4	111	1	0	0	0	0	1	0	0	0	16732	594	21	4	91376	4	TTN	2	179604547	Missense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	12320213	179604547	63594826	16	74118											
SPEG	10290	broad.mit.edu	37	chr2	220312960	220312960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagggaagaagtccaagtcGtccgggccctccctggcggg	16	13	0	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr2:220312960G>A	uc010fwg.2	+	4	1080	c.1080G>A	c.(1078-1080)TCG>TCA	p.S360S	SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'Flank	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	360					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGTCCAAGTCGTCCGGGCCCT	0.716													A	220312960	G	A	220312960	2	1	111	1	0	0	0	0	0	0	0	1	15035	1132	40	1		1	SPEG	2	220312960	Silent	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	40708413	220312960	22886413	17	74119											
BSN	8927	broad.mit.edu	37	chr3	49698362	49698362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagggctgcaccactccCgctggccagtttgtggactt	11	15	0	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr3:49698362C>T	uc003cxe.3	+	6	9198	c.9084C>T	c.(9082-9084)CCC>CCT	p.P3028P		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	3028					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCACCACTCCCGCTGGCCAGT	0.662													T	49698362	C	T	49698362	2	4	111	1	0	0	0	0	0	0	0	1	1530	639	23	1		1	BSN	3	49698362	Silent	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08		49698362	148324068	18	74120											
ST3GAL6	10402	broad.mit.edu	37	chr3	98512522	98512522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatttttcttctttagaacGcgtatcacaatgtgactgca	7	8	3	2	rs140152670		TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr3:98512522G>A	uc003dsz.2	+	10	1149	c.913G>A	c.(913-915)GCG>ACG	p.A305T	ST3GAL6_uc003dsy.2_Missense_Mutation_p.A219T|ST3GAL6_uc003dta.2_Missense_Mutation_p.A187T|ST3GAL6_uc003dtb.2_Missense_Mutation_p.A161T|ST3GAL6_uc003dtc.2_Missense_Mutation_p.A305T|ST3GAL6_uc010hpd.2_Missense_Mutation_p.A358T	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	alpha2,3-sialyltransferase VI	305	Lumenal (Potential).				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			ovary(1)	1						TCTTTAGAACGCGTATCACAA	0.348													A	98512522	G	A	98512522	3	1	111	1	0	0	0	0	1	0	0	0	15218	1087	38	1	947	1	ST3GAL6	3	98512522	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	48814160	98512522	99509908	19	74121											
IGSF11	152404	broad.mit.edu	37	chr3	118644976	118644976	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgttggaggtagtttgagGgtattgtctaacttctccca	12	7	2	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr3:118644976G>T	uc003ebw.2	-	4	799	c.552C>A	c.(550-552)ACC>ACA	p.T184T	IGSF11_uc011biv.1_Silent_p.T184T|IGSF11_uc003ebx.2_Silent_p.T184T|IGSF11_uc003eby.2_Silent_p.T183T|IGSF11_uc003ebz.2_Silent_p.T183T|IGSF11_uc010hqs.2_Silent_p.T183T	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	184	Ig-like C2-type.|Extracellular (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0						GTAGTTTGAGGGTATTGTCTA	0.418													T	118644976	G	T	118644976	2	4	111	1	0	0	0	0	0	0	0	1	7598	1219	43	5		5	IGSF11	3	118644976	Silent	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	20132454	118644976	79377454	20	74122											
ZXDC	79364	broad.mit.edu	37	chr3	126194460	126194460	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcctcggcggcagcgccgccGtgcggcacttccagcagcac	14	18	0	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr3:126194460G>C	uc003eiv.2	-	1	303	c.249C>G	c.(247-249)CAC>CAG	p.H83Q	ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Missense_Mutation_p.H83Q	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C isoform 1	83					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.155)		CAGCGCCGCCGTGCGGCACTT	0.458													C	126194460	G	C	126194460	3	2	111	1	0	0	0	0	1	0	0	0	18249	1136	40	5	2373	5	ZXDC	3	126194460	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	7549484	126194460	71827970	21	74123											
DGKG	1608	broad.mit.edu	37	chr3	185986618	185986618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccacacgcagtgccgcGcggtgacactctggtagcac	13	15	1	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr3:185986618G>A	uc003fqa.2	-	12	1625	c.1088C>T	c.(1087-1089)GCG>GTG	p.A363V	DGKG_uc003fqb.2_Intron|DGKG_uc003fqc.2_Missense_Mutation_p.A363V|DGKG_uc011brx.1_Intron	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	363	Phorbol-ester/DAG-type 2.				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			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GCAGTGCCGCGCGGTGACACT	0.612													A	185986618	G	A	185986618	3	1	111	1	0	0	0	0	1	0	0	0	4469	1087	38	1	1343	1	DGKG	3	185986618	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	59792158	185986618	12035812	22	74124											
KIAA1530	57654	broad.mit.edu	37	chr4	1360175	1360175	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaggtccctgagaaggAggggtatgagccacacatcc	15	9	0	2			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr4:1360175A>C	uc003gde.3	+	8	1691	c.1244A>C	c.(1243-1245)GAG>GCG	p.E415A	KIAA1530_uc010ibv.2_5'UTR	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	415											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			CCTGAGAAGGAGGGGTATGAG	0.602													C	1360175	A	C	1360175	3	2	111	1	0	0	0	0	1	0	0	0	8241	304	11	5	1270	5	KIAA1530	4	1360175	Missense_Mutation	SNP	A	TCGA-BR-A44U-01A-11D-A24D-08		1360175	189794101	23	74125											
CHRNA9	55584	broad.mit.edu	37	chr4	40351080	40351080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacctacaatggcaatcagGtggacatattcaacgccttg	10	10	2	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr4:40351080G>A	uc003gva.1	+	4	563	c.547G>A	c.(547-549)GTG>ATG	p.V183M		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9	183	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(3)|skin(3)|central_nervous_system(1)	7					Nicotine(DB00184)	TGGCAATCAGGTGGACATATT	0.498													A	40351080	G	A	40351080	3	1	111	1	0	0	0	0	1	0	0	0	3389	1261	44	4	561	4	CHRNA9	4	40351080	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	38990905	40351080	150803196	24	74126											
PTPN13	5783	broad.mit.edu	37	chr4	87724881	87724881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcattcctttctgacaaaCgatgagctcgctgtactccc	7	13	2	2			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr4:87724881C>T	uc003hpz.2	+	43	7005	c.6525C>T	c.(6523-6525)AAC>AAT	p.N2175N	PTPN13_uc003hpy.2_Silent_p.N2180N|PTPN13_uc003hqa.2_Silent_p.N2156N|PTPN13_uc003hqb.2_Silent_p.N1984N|PTPN13_uc003hqc.1_Silent_p.N541N	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	2175						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTCTGACAAACGATGAGCTCG	0.428													T	87724881	C	T	87724881	2	4	111	1	0	0	0	0	0	0	0	1	12782	535	19	1		1	PTPN13	4	87724881	Silent	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	47373801	87724881	103429395	25	74127											
FAM13A	10144	broad.mit.edu	37	chr4	89702371	89702371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttagtactggatttctgaCgtttaggcttgctcctttct	9	8	2	1	rs116703634	by1000genomes	TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr4:89702371C>T	uc003hse.1	-	11	1611	c.1403G>A	c.(1402-1404)CGT>CAT	p.R468H	FAM13A_uc003hsb.1_Missense_Mutation_p.R142H|FAM13A_uc003hsd.1_Missense_Mutation_p.R142H|FAM13A_uc003hsc.1_Missense_Mutation_p.R128H|FAM13A_uc011cdq.1_Missense_Mutation_p.R114H|FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsg.1_5'UTR|FAM13A_uc003hsh.1_Missense_Mutation_p.R282H|FAM13A_uc010ikr.1_5'UTR	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	468					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						GGATTTCTGACGTTTAGGCTT	0.378													T	89702371	C	T	89702371	3	4	111	1	0	0	0	0	1	0	0	0	5452	536	19	1	1724	1	FAM13A	4	89702371	Missense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	1977490	89702371	101451905	26	74128											
TRIML1	339976	broad.mit.edu	37	chr4	189063413	189063413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgttttggcaggaagaaaCaaagacttgtaaacaggttg	12	4	0	2			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr4:189063413C>T	uc003izm.1	+	3	627	c.512C>T	c.(511-513)ACA>ATA	p.T171I	TRIML1_uc003izn.1_5'Flank	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	171					multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CAGGAAGAAACAAAGACTTGT	0.333													T	189063413	C	T	189063413	3	4	111	1	0	0	0	0	1	0	0	0	16547	478	17	4	522	4	TRIML1	4	189063413	Missense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	99361042	189063413	2090863	27	74129											
RAI14	26064	broad.mit.edu	37	chr5	34826448	34826448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccctagataaatgagatgtCgaaggaagtcaccaaattga	9	8	1	3			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr5:34826448C>T	uc003jir.2	+	16	2859	c.2663C>T	c.(2662-2664)TCG>TTG	p.S888L	RAI14_uc010iur.2_Missense_Mutation_p.S859L|RAI14_uc011coj.1_Missense_Mutation_p.S888L|RAI14_uc003jis.2_Missense_Mutation_p.S891L|RAI14_uc003jit.2_Missense_Mutation_p.S888L|RAI14_uc011cok.1_Missense_Mutation_p.S880L	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	888	Potential.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					AATGAGATGTCGAAGGAAGTC	0.438													T	34826448	C	T	34826448	3	4	111	1	0	0	0	0	1	0	0	0	13008	893	31	1	2786	1	RAI14	5	34826448	Missense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08		34826448	146088812	28	74130											
CMYA5	202333	broad.mit.edu	37	chr5	79026748	79026748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaattgaccgtaagtccccGttaatattgaaaggtgtttc	8	8	0	2			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr5:79026748G>A	uc003kgc.2	+	2	2232	c.2160G>A	c.(2158-2160)CCG>CCA	p.P720P		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	720						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTAAGTCCCCGTTAATATTGA	0.458													A	79026748	G	A	79026748	2	1	111	1	0	0	0	0	0	0	0	1	3590	1132	40	1		1	CMYA5	5	79026748	Silent	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	44200300	79026748	101888512	29	74131											
COL23A1	91522	broad.mit.edu	37	chr5	177666176	177666176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcacaggcagcccgtcgGggccctggaaaggaagaagg	17	11	0	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr5:177666176G>A	uc003mje.2	-	28	1944	c.1586C>T	c.(1585-1587)CCC>CTC	p.P529L	COL23A1_uc010jkt.2_Missense_Mutation_p.P411L	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	529	Extracellular (Potential).|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CAGCCCGTCGGGGCCCTGGAA	0.657													A	177666176	G	A	177666176	3	1	111	1	0	0	0	0	1	0	0	0	3682	1232	43	4	44	4	COL23A1	5	177666176	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	98639428	177666176	3249084	30	74132											
CFB	629	broad.mit.edu	37	chr6	31915251	31915251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggctcccagcggcgaaCgtgtcaggaaggtggctctt	16	11	2	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr6:31915251C>T	uc003nyj.3	+	4	889	c.611C>T	c.(610-612)ACG>ATG	p.T204M	CFB_uc011dor.1_Missense_Mutation_p.T706M|CFB_uc003nyi.2_Missense_Mutation_p.T204M	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	204	Sushi 3.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1						CAGCGGCGAACGTGTCAGGAA	0.622													T	31915251	C	T	31915251	3	4	111	1	0	0	0	0	1	0	0	0	3278	536	19	1	625	1	CFB	6	31915251	Missense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08		31915251	139199816	31	74133											
BAI3	577	broad.mit.edu	37	chr6	70065746	70065746	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggatgtagacattgcctgtCgatcaggtaagaatatttag	11	5	1	2			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr6:70065746C>T	uc003pev.3	+	28	4037	c.3589C>T	c.(3589-3591)CGA>TGA	p.R1197*	BAI3_uc010kak.2_Nonsense_Mutation_p.R1197*|BAI3_uc011dxx.1_Nonsense_Mutation_p.R403*	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1197	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				CATTGCCTGTCGATCAGGTAA	0.294													T	70065746	C	T	70065746	4	4	111	1	0	0	0	0	0	1	0	0	1300	876	31	1	3691	1	BAI3	6	70065746	Nonsense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	38150495	70065746	101049321	32	74134											
RIMS1	22999	broad.mit.edu	37	chr6	72889429	72889429	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaggtaccaagagaaaAgaaagcacgactccaagagc	10	10	1	4			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr6:72889429A>C	uc003pga.2	+	5	700	c.623A>C	c.(622-624)AAG>ACG	p.K208T	RIMS1_uc011dyb.1_5'Flank|RIMS1_uc003pgc.2_5'Flank|RIMS1_uc003pgb.3_5'Flank	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	208					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCAAGAGAAAAGAAAGCACGA	0.577													C	72889429	A	C	72889429	3	2	111	1	0	0	0	0	1	0	0	0	13367	72	3	5	641	5	RIMS1	6	72889429	Missense_Mutation	SNP	A	TCGA-BR-A44U-01A-11D-A24D-08	2823683	72889429	98225638	33	74135											
HTR1B	3351	broad.mit.edu	37	chr6	78172243	78172243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagcagggcgtcggagactCgcactttgacttggttcaca	12	12	1	2			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr6:78172243C>T	uc003pil.1	-	1	878	c.878G>A	c.(877-879)CGA>CAA	p.R293Q		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	293	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GTCGGAGACTCGCACTTTGAC	0.562													T	78172243	C	T	78172243	3	4	111	1	0	0	0	0	1	0	0	0	7437	884	31	1	298	1	HTR1B	6	78172243	Missense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	5282814	78172243	92942824	34	74136											
GPER	2852	broad.mit.edu	37	chr7	1131745	1131745	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcggtactacgacatcgcCgtcctgtgcaccttcatgtc	10	14	1	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr7:1131745C>T	uc010ksd.1	+	2	770	c.381C>T	c.(379-381)GCC>GCT	p.A127A	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Silent_p.A127A|GPER_uc003ska.1_Silent_p.A127A|GPER_uc003skb.2_Silent_p.A127A	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	127	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		ACGACATCGCCGTCCTGTGCA	0.587													T	1131745	C	T	1131745	2	4	111	1	0	0	0	0	0	0	0	1	6607	639	23	1		1	GPER	7	1131745	Silent	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08		1131745	158006918	35	74137											
SUN3	256979	broad.mit.edu	37	chr7	48046774	48046774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggacctctgtgtggtcCgggtcctccacagggtctcc	12	15	2	0	rs150352113	by1000genomes	TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr7:48046774C>T	uc003tof.2	-	6	577	c.480G>A	c.(478-480)CCG>CCA	p.P160P	SUN3_uc010kyq.2_Silent_p.P60P|SUN3_uc003tog.2_Silent_p.P160P|SUN3_uc011kcf.1_Silent_p.P148P	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 1	160						integral to membrane		p.P160S(1)		central_nervous_system(1)	1						CTGTGTGGTCCGGGTCCTCCA	0.552													T	48046774	C	T	48046774	2	4	111	1	0	0	0	0	0	0	0	1	15390	639	23	1		1	SUN3	7	48046774	Silent	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	46915029	48046774	111091889	36	74138											
POM121	9883	broad.mit.edu	37	chr7	72412663	72412663	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtttggaacacagaacAcctcaccttccagccctgcc	6	17	1	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr7:72412663A>G	uc003twk.2	+	11	2131	c.2131A>G	c.(2131-2133)ACC>GCC	p.T711A	POM121_uc003twj.2_Missense_Mutation_p.T446A|POM121_uc010lam.1_Missense_Mutation_p.T446A	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	711	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore					0		Lung NSC(55;0.163)				AACACAGAACACCTCACCTTC	0.607													G	72412663	A	G	72412663	3	3	111	1	0	0	0	0	1	0	0	0	12239	159	6	3	1374	3	POM121	7	72412663	Missense_Mutation	SNP	A	TCGA-BR-A44U-01A-11D-A24D-08	24365889	72412663	86726000	37	74139											
DGKI	9162	broad.mit.edu	37	chr7	137531227	137531227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtacgagacctgcttccGgaaagttaagttcctcagct	9	12	1	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr7:137531227G>A	uc003vtt.2	-	1	383	c.382C>T	c.(382-384)CGG>TGG	p.R128W	DGKI_uc003vtu.2_5'UTR	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	128					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						ACCTGCTTCCGGAAAGTTAAG	0.592													A	137531227	G	A	137531227	3	1	111	1	0	0	0	0	1	0	0	0	4471	1115	39	1	2951	1	DGKI	7	137531227	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	65118564	137531227	21607436	38	74140											
HIPK2	28996	broad.mit.edu	37	chr7	139416436	139416436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgatctcctcgctcttaCgcttgagtccacatttttgg	7	13	3	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr7:139416436C>T	uc003vvf.3	-	2	572	c.398G>A	c.(397-399)CGT>CAT	p.R133H	HIPK2_uc003vvd.3_Missense_Mutation_p.R133H	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	133	Transcriptional corepression (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					CTCGCTCTTACGCTTGAGTCC	0.547													T	139416436	C	T	139416436	3	4	111	1	0	0	0	0	1	0	0	0	7117	536	19	1	3254	1	HIPK2	7	139416436	Missense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	1885209	139416436	19722227	39	74141											
RP1L1	94137	broad.mit.edu	37	chr8	10469501	10469501	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgagcttccagaatatcGtggcactgagccatcctggc	11	12	0	3			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr8:10469501G>A	uc003wtc.2	-	4	2336	c.2107C>T	c.(2107-2109)CGA>TGA	p.R703*		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	703					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CCAGAATATCGTGGCACTGAG	0.617													A	10469501	G	A	10469501	4	1	111	1	0	0	0	0	0	1	0	0	13533	1153	40	1	5099	1	RP1L1	8	10469501	Nonsense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08		10469501	135894521	40	74142											
SNTG1	54212	broad.mit.edu	37	chr8	51465632	51465632	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaatgcctttcaagtcattGctgtggatggggtctgcact	12	8	3	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr8:51465632G>T	uc010lxy.1	+	13	1074	c.703G>T	c.(703-705)GCT>TCT	p.A235S	SNTG1_uc003xqs.1_Missense_Mutation_p.A235S|SNTG1_uc010lxz.1_Missense_Mutation_p.A235S|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	235					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCAAGTCATTGCTGTGGATGG	0.418													T	51465632	G	T	51465632	3	4	111	1	0	0	0	0	1	0	0	0	14874	1319	46	5	741	5	SNTG1	8	51465632	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	40996131	51465632	94898390	41	74143											
DNAJC5B	85479	broad.mit.edu	37	chr8	66989069	66989069	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagtttggagacgaaaaCgttaacacctacttcatgct	9	9	1	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr8:66989069C>T	uc003xvs.1	+	4	585	c.294C>T	c.(292-294)AAC>AAT	p.N98N	DNAJC5B_uc003xvt.1_RNA	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	98					protein folding	membrane	heat shock protein binding|unfolded protein binding				0		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			GAGACGAAAACGTTAACACCT	0.448													T	66989069	C	T	66989069	2	4	111	1	0	0	0	0	0	0	0	1	4651	535	19	1		1	DNAJC5B	8	66989069	Silent	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	15523437	66989069	79374953	42	74144											
RALYL	138046	broad.mit.edu	37	chr8	85441713	85441713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaatagttggatgttccGttcacaaaggttatgcattt	9	5	1	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr8:85441713G>A	uc003ycq.3	+	3	573	c.157G>A	c.(157-159)GTT>ATT	p.V53I	RALYL_uc003ycr.3_Missense_Mutation_p.V53I|RALYL_uc003ycs.3_Missense_Mutation_p.V53I|RALYL_uc010lzy.2_Missense_Mutation_p.V53I|RALYL_uc003yct.3_Missense_Mutation_p.V66I	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like isoform 2	53	RRM.						identical protein binding|nucleotide binding|RNA binding			ovary(1)	1						TGGATGTTCCGTTCACAAAGG	0.438													A	85441713	G	A	85441713	3	1	111	1	0	0	0	0	1	0	0	0	13020	1145	40	1	202	1	RALYL	8	85441713	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	18452644	85441713	60922309	43	74145											
CSMD3	114788	broad.mit.edu	37	chr8	113694815	113694815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaagttgtccccaaaccGccgtgcattgattggtattc	9	10	0	2			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr8:113694815G>A	uc003ynu.2	-	16	2692	c.2533C>T	c.(2533-2535)CGG>TGG	p.R845W	CSMD3_uc003yns.2_Missense_Mutation_p.R117W|CSMD3_uc003ynt.2_Missense_Mutation_p.R805W|CSMD3_uc011lhx.1_Missense_Mutation_p.R741W	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	845	Sushi 4.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TCCCCAAACCGCCGTGCATTG	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113694815	G	A	113694815	3	1	111	1	0	0	0	0	1	0	0	0	3946	1086	38	1	8814	1	CSMD3	8	113694815	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	28253102	113694815	32669207	44	74146											
CSMD3	114788	broad.mit.edu	37	chr8	113702269	113702269	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatcaccacaactttcTttctcaatttctggaaaaat	4	11	4	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr8:113702269T>C	uc003ynu.2	-	14	2142	c.1983A>G	c.(1981-1983)AAA>AAG	p.K661K	CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Silent_p.K621K|CSMD3_uc011lhx.1_Silent_p.K557K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	661	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CACAACTTTCTTTCTCAATTT	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113702269	T	C	113702269	2	2	111	1	0	0	0	0	0	0	0	1	3946	1606	56	3		3	CSMD3	8	113702269	Silent	SNP	T	TCGA-BR-A44U-01A-11D-A24D-08	7454	113702269	32661753	45	74147											
ADCY8	114	broad.mit.edu	37	chr8	132051788	132051788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccgtcgcccaggagcccGtagccgaggcctgctgccag	14	16	0	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr8:132051788G>A	uc003ytd.3	-	1	1048	c.792C>T	c.(790-792)TAC>TAT	p.Y264Y	ADCY8_uc010mds.2_Silent_p.Y264Y	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	264	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCAGGAGCCCGTAGCCGAGGC	0.662										HNSCC(32;0.087)			A	132051788	G	A	132051788	2	1	111	1	0	0	0	0	0	0	0	1	300	1140	40	1		1	ADCY8	8	132051788	Silent	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	18349519	132051788	14312234	46	74148											
FRMD3	257019	broad.mit.edu	37	chr9	86153105	86153105	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaagtggatcattttcatGgtcctcctgcctctcggcac	9	13	3	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr9:86153105G>A	uc004ams.1	-	1	244	c.42C>T	c.(40-42)ACC>ACT	p.T14T	FRMD3_uc004amr.1_5'UTR	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	14						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2						TCATTTTCATGGTCCTCCTGC	0.652													A	86153105	G	A	86153105	2	1	111	1	0	0	0	0	0	0	0	1	6050	1335	47	4		4	FRMD3	9	86153105	Silent	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08		86153105	55060326	47	74149											
ZNF484	83744	broad.mit.edu	37	chr9	95609552	95609552	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taatgagatttgacctgtcaGtaaaggccttaccacacaca	7	10	1	2			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr9:95609552G>C	uc004asu.1	-	5	1666	c.1517C>G	c.(1516-1518)ACT>AGT	p.T506S	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.T508S|ZNF484_uc010mrb.1_Missense_Mutation_p.T470S|ZNF484_uc004asv.1_Missense_Mutation_p.T470S	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	506	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGACCTGTCAGTAAAGGCCTT	0.403													C	95609552	G	C	95609552	3	2	111	1	0	0	0	0	1	0	0	0	17934	1029	36	5	1045	5	ZNF484	9	95609552	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	9456447	95609552	45603879	48	74150											
C9orf125	84302	broad.mit.edu	37	chr9	104238826	104238826	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcttctctttctcaaaCgagttggtcgaagggtcatc	9	11	3	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr9:104238826C>T	uc004bbm.2	-	2	871	c.549G>A	c.(547-549)TCG>TCA	p.S183S	uc004bbl.1_5'Flank	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	hypothetical protein LOC84302	183						integral to membrane					0		Acute lymphoblastic leukemia(62;0.0527)				CTTTCTCAAACGAGTTGGTCG	0.498													T	104238826	C	T	104238826	2	4	111	1	0	0	0	0	0	0	0	1	2454	523	19	1		1	C9orf125	9	104238826	Silent	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	8629274	104238826	36974605	49	74151											
PAPPA	5069	broad.mit.edu	37	chr9	119033625	119033625	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaaggtgaacaatgcgaCgacatgaataagatcaatgg	11	7	1	3			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr9:119033625C>T	uc004bjn.2	+	9	3264	c.2883C>T	c.(2881-2883)GAC>GAT	p.D961D	PAPPA_uc011lxp.1_Silent_p.D656D|PAPPA_uc011lxq.1_Silent_p.D336D	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	961					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						AACAATGCGACGACATGAATA	0.393													T	119033625	C	T	119033625	2	4	111	1	0	0	0	0	0	0	0	1	11432	535	19	1		1	PAPPA	9	119033625	Silent	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	14794799	119033625	22179806	50	74152											
DIP2C	22982	broad.mit.edu	37	chr10	486827	486827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctggaggggtgtaggcGtccatcgaggtctgcacgac	15	10	1	0	rs139321678	byFrequency	TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr10:486827G>A	uc001ifp.2	-	4	468	c.378C>T	c.(376-378)GAC>GAT	p.D126D	DIP2C_uc009xhk.1_Missense_Mutation_p.T128M	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	126						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGGTGTAGGCGTCCATCGAGG	0.607													A	486827	G	A	486827	2	1	111	1	0	0	0	0	0	0	0	1	4529	1136	40	1		1	DIP2C	10	486827	Silent	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08		486827	135047920	51	74153											
ITIH5	80760	broad.mit.edu	37	chr10	7621729	7621729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacagacccgatgagctgCgagcctgcgtcctcctcctc	9	18	0	2			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr10:7621729C>T	uc001ijq.2	-	9	1486	c.1407G>A	c.(1405-1407)TCG>TCA	p.S469S	ITIH5_uc001ijp.2_Silent_p.S255S|ITIH5_uc001ijr.1_Silent_p.S469S	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	469	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						CGATGAGCTGCGAGCCTGCGT	0.612													T	7621729	C	T	7621729	2	4	111	1	0	0	0	0	0	0	0	1	7907	755	27	1		1	ITIH5	10	7621729	Silent	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	7134902	7621729	127913018	52	74154											
PCDH15	65217	broad.mit.edu	37	chr10	55698634	55698634	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaatcagcttggactcgaAgtacatagcttgtcctggtc	12	9	1	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr10:55698634A>C	uc001jju.1	-	25	3709	c.3314T>G	c.(3313-3315)CTT>CGT	p.L1105R	PCDH15_uc010qhq.1_Missense_Mutation_p.L1110R|PCDH15_uc010qhr.1_Missense_Mutation_p.L1105R|PCDH15_uc010qhs.1_Missense_Mutation_p.L1117R|PCDH15_uc010qht.1_Missense_Mutation_p.L1112R|PCDH15_uc010qhu.1_Missense_Mutation_p.L1105R|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.L1105R|PCDH15_uc010qhw.1_Missense_Mutation_p.L1068R|PCDH15_uc010qhx.1_Missense_Mutation_p.L1034R|PCDH15_uc010qhy.1_Missense_Mutation_p.L1110R|PCDH15_uc010qhz.1_Missense_Mutation_p.L1105R|PCDH15_uc010qia.1_Missense_Mutation_p.L1083R|PCDH15_uc010qib.1_Missense_Mutation_p.L1083R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1105	Cadherin 10.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGGACTCGAAGTACATAGCT	0.368										HNSCC(58;0.16)			C	55698634	A	C	55698634	3	2	111	1	0	0	0	0	1	0	0	0	11511	72	3	5	4208	5	PCDH15	10	55698634	Missense_Mutation	SNP	A	TCGA-BR-A44U-01A-11D-A24D-08	48076905	55698634	79836113	53	74155											
HELLS	3070	broad.mit.edu	37	chr10	96348000	96348000	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttagattttaacacctttCttattgagaagactgaagtc	6	6	1	4			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr10:96348000C>T	uc001kjt.2	+	13	1446	c.1341C>T	c.(1339-1341)TTC>TTT	p.F447F	HELLS_uc001kjs.2_Silent_p.F431F|HELLS_uc009xul.2_Silent_p.F349F|HELLS_uc009xum.2_Silent_p.F317F|HELLS_uc009xun.2_Silent_p.F323F|HELLS_uc009xuo.2_Silent_p.F493F|HELLS_uc001kju.2_Silent_p.F86F|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Silent_p.F309F|HELLS_uc009xur.2_RNA	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	447					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			ovary(1)|kidney(1)	2		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TAACACCTTTCTTATTGAGAA	0.328													T	96348000	C	T	96348000	2	4	111	1	0	0	0	0	0	0	0	1	7046	912	32	4		4	HELLS	10	96348000	Silent	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	40649366	96348000	39186747	54	74156											
CPXM2	119587	broad.mit.edu	37	chr10	125557575	125557575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggtttatgcggatgtagCgggccaccatggggacgggt	19	7	0	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr10:125557575C>T	uc001lhk.1	-	6	1131	c.806G>A	c.(805-807)CGC>CAC	p.R269H	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	269	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GCGGATGTAGCGGGCCACCAT	0.502													T	125557575	C	T	125557575	3	4	111	1	0	0	0	0	1	0	0	0	3838	768	27	1	1500	1	CPXM2	10	125557575	Missense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	29209575	125557575	9977172	55	74157											
GPR123	84435	broad.mit.edu	37	chr10	134941940	134941940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctacgtgcagctgcggcGccacccagggcgcaggtacg	14	16	0	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr10:134941940G>A	uc001llx.3	+	7	1044	c.608G>A	c.(607-609)CGC>CAC	p.R203H	GPR123_uc001llw.2_Missense_Mutation_p.R922H	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	203	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CAGCTGCGGCGCCACCCAGGG	0.721													A	134941940	G	A	134941940	3	1	111	1	0	0	0	0	1	0	0	0	6637	1087	38	1	630	1	GPR123	10	134941940	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	9384365	134941940	592807	56	74158											
TMEM151A	256472	broad.mit.edu	37	chr11	66062277	66062277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgagcgcgctgacagccGcacggcccgcggcgagtttg	15	15	0	2			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr11:66062277G>A	uc001ohl.2	+	2	672	c.560G>A	c.(559-561)CGC>CAC	p.R187H		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	187						integral to membrane				central_nervous_system(1)	1						GCTGACAGCCGCACGGCCCGC	0.697													A	66062277	G	A	66062277	3	1	111	1	0	0	0	0	1	0	0	0	16067	1087	38	1	566	1	TMEM151A	11	66062277	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08		66062277	68944239	57	74159											
ARAP1	116985	broad.mit.edu	37	chr11	72421453	72421453	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tagattcttgtagagctgcaCtttgtccccgaccacggcca	9	13	1	2			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr11:72421453C>G	uc001osu.2	-	10	1582	c.1393G>C	c.(1393-1395)GTG>CTG	p.V465L	ARAP1_uc001osv.2_Missense_Mutation_p.V465L|ARAP1_uc001osr.2_Missense_Mutation_p.V225L|ARAP1_uc001oss.2_Missense_Mutation_p.V220L|ARAP1_uc009yth.2_Missense_Mutation_p.V220L|ARAP1_uc010rre.1_Missense_Mutation_p.V220L	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	465	PH 2.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						TAGAGCTGCACTTTGTCCCCG	0.602													G	72421453	C	G	72421453	3	3	111	1	0	0	0	0	1	0	0	0	838	565	20	5	3063	5	ARAP1	11	72421453	Missense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	6359176	72421453	62585063	58	74160											
PCSK7	9159	broad.mit.edu	37	chr11	117100244	117100244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctccacctccagggccGgcctgtgcccagcaggctgg	14	17	0	0	rs75310602		TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr11:117100244G>A	uc001pqr.2	-	3	518	c.317C>T	c.(316-318)CCG>CTG	p.P106L		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	106					peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CTCCAGGGCCGGCCTGTGCCC	0.667			T	IGH@	MLCLS								A	117100244	G	A	117100244	3	1	111	1	0	0	0	0	1	0	0	0	11605	1116	39	1	2100	1	PCSK7	11	117100244	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	44678791	117100244	17906272	59	74161											
PHLDB1	23187	broad.mit.edu	37	chr11	118502879	118502879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggtgtctgcccccaggccGaaatggagcgggcactgctg	15	13	1	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr11:118502879G>A	uc001ptr.1	+	10	2598	c.2245G>A	c.(2245-2247)GAA>AAA	p.E749K	PHLDB1_uc001pts.2_Missense_Mutation_p.E749K|PHLDB1_uc001ptt.2_Missense_Mutation_p.E749K|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Missense_Mutation_p.E549K|PHLDB1_uc001ptw.1_Missense_Mutation_p.E151K|PHLDB1_uc009zai.1_Intron|PHLDB1_uc001ptx.1_5'UTR	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	749	Potential.										0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCCCCAGGCCGAAATGGAGCG	0.632													A	118502879	G	A	118502879	3	1	111	1	0	0	0	0	1	0	0	0	11851	1059	37	1	2275	1	PHLDB1	11	118502879	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	1402635	118502879	16503637	60	74162											
VPS11	55823	broad.mit.edu	37	chr11	118938709	118938709	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgactcaggccgagggagcCtggtctttggagatatcctt	14	10	2	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr11:118938709C>T	uc010ryx.1	+	1	217	c.175C>T	c.(175-177)CTG>TTG	p.L59L	VPS11_uc010ryy.1_5'UTR	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	59					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CCGAGGGAGCCTGGTCTTTGG	0.592													T	118938709	C	T	118938709	2	4	111	1	0	0	0	0	0	0	0	1	17185	680	24	4		4	VPS11	11	118938709	Silent	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	435830	118938709	16067807	61	74163											
CLEC1A	51267	broad.mit.edu	37	chr12	10233947	10233947	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caactcttgggacgtatttcCtaatctttcttccatttgag	6	10	3	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr12:10233947C>G	uc001qxb.2	-	3	364	c.280G>C	c.(280-282)GGA>CGA	p.G94R	CLEC1A_uc009zhf.2_Missense_Mutation_p.G6R|CLEC1A_uc001qxc.2_Missense_Mutation_p.G6R|CLEC1A_uc001qxd.2_Missense_Mutation_p.G51R|CLEC1A_uc010sgx.1_Intron	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	C-type lectin-like receptor-1	94	Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2						GACGTATTTCCTAATCTTTCT	0.418													G	10233947	C	G	10233947	3	3	111	1	0	0	0	0	1	0	0	0	3505	690	24	5	578	5	CLEC1A	12	10233947	Missense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08		10233947	123617948	62	74164											
NEUROD4	58158	broad.mit.edu	37	chr12	55420636	55420636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggaactatatttgggCtttatctgaagtcctggaga	12	7	1	2			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr12:55420636C>T	uc001sgp.3	+	2	791	c.413C>T	c.(412-414)GCT>GTT	p.A138V		NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	neurogenic differentiation 4	138	Helix-loop-helix motif.				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4						TATATTTGGGCTTTATCTGAA	0.502													T	55420636	C	T	55420636	3	4	111	1	0	0	0	0	1	0	0	0	10350	797	28	2	415	2	NEUROD4	12	55420636	Missense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	45186689	55420636	78431259	63	74165											
KCNC2	3747	broad.mit.edu	37	chr12	75444552	75444552	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcactagctgaagggtcGttaggttgagctcccactct	11	11	2	2			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr12:75444552G>A	uc001sxg.1	-	3	1777	c.1233C>T	c.(1231-1233)AAC>AAT	p.N411N	KCNC2_uc009zry.2_Silent_p.N411N|KCNC2_uc001sxe.2_Silent_p.N411N|KCNC2_uc001sxf.2_Silent_p.N411N|KCNC2_uc010stw.1_Silent_p.N411N	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	411					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						CTGAAGGGTCGTTAGGTTGAG	0.453													A	75444552	G	A	75444552	2	1	111	1	0	0	0	0	0	0	0	1	8015	1136	40	1		1	KCNC2	12	75444552	Silent	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	20023916	75444552	58407343	64	74166											
LIN7A	8825	broad.mit.edu	37	chr12	81205323	81205323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaattgctgctgctgccgaCgcctggctgttcgtagcttt	12	12	0	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr12:81205323C>T	uc001szj.1	-	5	816	c.623G>A	c.(622-624)CGT>CAT	p.R208H	LIN7A_uc001szk.1_RNA	NM_004664	NP_004655	O14910	LIN7A_HUMAN	lin-7 homolog A	208					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			ovary(1)|skin(1)	2						CTGCTGCCGACGCCTGGCTGT	0.403													T	81205323	C	T	81205323	3	4	111	1	0	0	0	0	1	0	0	0	8810	536	19	1	82	1	LIN7A	12	81205323	Missense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	5760771	81205323	52646572	65	74167											
RPH3A	22895	broad.mit.edu	37	chr12	113328750	113328750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcattgtgggcatcataCgctgcgtgcacctggctgcc	12	14	2	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr12:113328750C>T	uc010syl.1	+	19	2079	c.1717C>T	c.(1717-1719)CGC>TGC	p.R573C	RPH3A_uc001ttz.2_Missense_Mutation_p.R573C|RPH3A_uc001tty.2_Missense_Mutation_p.R569C|RPH3A_uc009zwe.1_Missense_Mutation_p.R568C|RPH3A_uc010sym.1_Missense_Mutation_p.R524C|RPH3A_uc001tua.2_Missense_Mutation_p.R333C	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	573	C2 2.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GGGCATCATACGCTGCGTGCA	0.582													T	113328750	C	T	113328750	3	4	111	1	0	0	0	0	1	0	0	0	13551	536	19	1	1783	1	RPH3A	12	113328750	Missense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	32123427	113328750	20523145	66	74168											
TUBA3C	7278	broad.mit.edu	37	chr13	19752452	19752452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtgtaatggcctctggcGtaattattggccgcatcttc	11	9	2	0	rs114178008		TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr13:19752452G>A	uc009zzj.2	-	3	358	c.309C>T	c.(307-309)TAC>TAT	p.Y103Y		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	103					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)|skin(2)	5		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGCCTCTGGCGTAATTATTGG	0.527													A	19752452	G	A	19752452	2	1	111	1	0	0	0	0	0	0	0	1	16743	1140	40	1		1	TUBA3C	13	19752452	Silent	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08		19752452	95417426	67	74169											
SACS	26278	broad.mit.edu	37	chr13	23906689	23906704	+	Frame_Shift_Del	DEL	TGCTCCTTAAGACTTT	TGCTCCTTAAGACTTT	-													tgcactgaggaattcatataTgctccttaagacttttgctc					rs145188410		TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr13:23906688_23906703ATGCTCCTTAAGACTTT>A	uc001uon.2	-	9	11901_11916	c.11312_11327AAAGTCTTAAGGAGCAT>T	c.(11311-11328)aaagtcttaaggagcatafs	p.K3771fs	SACS_uc001uoo.2_Frame_Shift_Del_p.K3624fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3771					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding	p.S3773T(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAATTCATATATGCTCCTTAAGACTTTTGCTCTAGT	0.389													-	23906704	TGCTCCTTAAGACTTT	-	23906689	7	5	111	1	0	1	0	1	0	0	0	0	13804	1464	51	0	2417	0	SACS	13	23906689	Frame_Shift_Del	DEL	TGCTCCTTAAGACTTT	TCGA-BR-A44U-01A-11D-A24D-08	4154237	23906689	91263189	68	74170											
N4BP2L2	10443	broad.mit.edu	37	chr13	33016958	33016958	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcaatgagaataacgctgTccatcaatatttaaaggggt	10	6	1	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr13:33016958T>G	uc010abe.1	-	7	1738	c.1716A>C	c.(1714-1716)GGA>GGC	p.G572G	N4BP2L2_uc001uug.2_Silent_p.G455G|N4BP2L2_uc010abd.1_Silent_p.G485G|N4BP2L2_uc001uuh.2_Silent_p.G403G|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Silent_p.G557G	NM_033111	NP_149102	Q92802	N42L2_HUMAN	phosphonoformate immuno-associated protein 5	Error:Variant_position_missing_in_Q92802_after_alignment											0		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		AATAACGCTGTCCATCAATAT	0.323													G	33016958	T	G	33016958	2	3	111	1	0	0	0	0	0	0	0	1	10112	1654	58	5		5	N4BP2L2	13	33016958	Silent	SNP	T	TCGA-BR-A44U-01A-11D-A24D-08	9110269	33016958	82152920	69	74171											
ARHGEF7	8874	broad.mit.edu	37	chr13	111767941	111767941	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctggagtcgcccaaaaaaaCcatctcggacccggagggct	12	13	1	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr13:111767941C>A	uc001vrs.2	+	1	318	c.68C>A	c.(67-69)ACC>AAC	p.T23N	ARHGEF7_uc001vrr.2_Missense_Mutation_p.T23N|ARHGEF7_uc001vrt.2_Missense_Mutation_p.T23N	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	23	CH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CCCAAAAAAACCATCTCGGAC	0.652													A	111767941	C	A	111767941	3	1	111	1	0	0	0	0	1	0	0	0	911	507	18	5	70	5	ARHGEF7	13	111767941	Missense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	78750983	111767941	3401937	70	74172											
RPL10L	140801	broad.mit.edu	37	chr14	47120473	47120473	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtccagggaacttgaacTtggccctgcgcaaggcttca	13	12	1	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr14:47120473T>C	uc001wwg.2	-	1	556	c.467A>G	c.(466-468)AAG>AGG	p.K156R		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	156					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						GAACTTGAACTTGGCCCTGCG	0.512													C	47120473	T	C	47120473	3	2	111	1	0	0	0	0	1	0	0	0	13556	1609	56	3	181	3	RPL10L	14	47120473	Missense_Mutation	SNP	T	TCGA-BR-A44U-01A-11D-A24D-08		47120473	60229067	71	74173											
NGB	58157	broad.mit.edu	37	chr14	77732917	77732917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgactcatggcctgcactaCggccccgtagagttggctcc	11	15	1	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr14:77732917C>T	uc001xtg.1	-	4	793	c.418G>A	c.(418-420)GTA>ATA	p.V140I		NM_021257	NP_067080	Q9NPG2	NGB_HUMAN	neuroglobin	140	Globin.					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		GCCTGCACTACGGCCCCGTAG	0.622													T	77732917	C	T	77732917	3	4	111	1	0	0	0	0	1	0	0	0	10392	536	19	1	41	1	NGB	14	77732917	Missense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	30612444	77732917	29616623	72	74174											
UNC45A	55898	broad.mit.edu	37	chr15	91488262	91488262	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgatgcggagagggagAatttccacagactttgtgaa	14	5	0	5			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr15:91488262A>G	uc002bqg.2	+	9	1508	c.1168A>G	c.(1168-1170)AAT>GAT	p.N390D	UNC45A_uc002bqd.2_Missense_Mutation_p.N375D|UNC45A_uc010uqr.1_5'Flank	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform	390					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGAGAGGGAGAATTTCCACAG	0.517													G	91488262	A	G	91488262	3	3	111	1	0	0	0	0	1	0	0	0	16985	246	9	3	1202	3	UNC45A	15	91488262	Missense_Mutation	SNP	A	TCGA-BR-A44U-01A-11D-A24D-08		91488262	11043130	73	74175											
CACNA1H	8912	broad.mit.edu	37	chr16	1248716	1248716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattttcggcatcgttggcGtccagctctgggctggcctc	12	13	2	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr16:1248716G>A	uc002cks.2	+	6	993	c.745G>A	c.(745-747)GTC>ATC	p.V249I	CACNA1H_uc002ckt.2_Missense_Mutation_p.V249I	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	249	Helical; Name=S5 of repeat I; (Potential).|I.				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CATCGTTGGCGTCCAGCTCTG	0.478													A	1248716	G	A	1248716	3	1	111	1	0	0	0	0	1	0	0	0	2545	1145	40	1	763	1	CACNA1H	16	1248716	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08		1248716	89106037	74	74176											
CCDC64B	146439	broad.mit.edu	37	chr16	3080765	3080765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgagcctggcactgtcCccgaagggcgtccagttccc	12	16	0	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr16:3080765C>T	uc002ctf.3	-	3	592	c.547G>A	c.(547-549)GGA>AGA	p.G183R	CCDC64B_uc002cte.3_5'UTR|CCDC64B_uc010bta.1_Silent_p.G82G	NM_001103175	NP_001096645	A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	183	Potential.										0						TGGCACTGTCCCCGAAGGGCG	0.632													T	3080765	C	T	3080765	3	4	111	1	0	0	0	0	1	0	0	0	2836	632	22	4	1007	4	CCDC64B	16	3080765	Missense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	1832049	3080765	87273988	75	74177											
GP2	2813	broad.mit.edu	37	chr16	20335362	20335362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcacctggacacaggtctccGacatccttactcctccttcc	6	18	1	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr16:20335362G>A	uc002dgv.2	-	3	394	c.311C>T	c.(310-312)TCG>TTG	p.S104L	GP2_uc002dgw.2_Missense_Mutation_p.S104L|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	104						anchored to membrane|extracellular region|plasma membrane				ovary(3)|skin(1)	4						ACAGGTCTCCGACATCCTTAC	0.592													A	20335362	G	A	20335362	3	1	111	1	0	0	0	0	1	0	0	0	6582	1059	37	1	1342	1	GP2	16	20335362	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	17254597	20335362	70019391	76	74178											
SLC12A3	6559	broad.mit.edu	37	chr16	56904589	56904589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgacatccgcatcattgccGtggtctcggtcactgtgctg	11	13	3	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr16:56904589G>A	uc010ccm.2	+	6	822	c.793G>A	c.(793-795)GTG>ATG	p.V265M	SLC12A3_uc002ekd.3_Missense_Mutation_p.V265M|SLC12A3_uc010ccn.2_Missense_Mutation_p.V264M	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	265	Helical; (Potential).				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CATCATTGCCGTGGTCTCGGT	0.617													A	56904589	G	A	56904589	3	1	111	1	0	0	0	0	1	0	0	0	14384	1145	40	1	815	1	SLC12A3	16	56904589	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	36569227	56904589	33450164	77	74179											
DULLARD	23399	broad.mit.edu	37	chr17	7147528	7147528	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagagccgatgttggtgaagGtttcggctcagcacggaacg	15	9	1	2			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr17:7147528G>C	uc002gfd.2	-	8	1091	c.711C>G	c.(709-711)AAC>AAG	p.N237K	GABARAP_uc002gfb.2_5'Flank|DULLARD_uc002gfe.2_Missense_Mutation_p.N237K|DULLARD_uc002gff.2_Missense_Mutation_p.N237K|DULLARD_uc002gfc.2_RNA	NM_001143775	NP_001137247	O95476	CNEP1_HUMAN	dullard homolog	237					nuclear envelope organization|protein dephosphorylation	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein serine/threonine phosphatase activity				0						GTTGGTGAAGGTTTCGGCTCA	0.562													C	7147528	G	C	7147528	3	2	111	1	0	0	0	0	1	0	0	0	4799	1252	44	5	27	5	DULLARD	17	7147528	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08		7147528	74047682	78	74180											
TP53	7157	broad.mit.edu	37	chr17	7577082	7577082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcttgcggagattctcttCctctgtgcgccggtctctcc	9	14	4	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr17:7577082C>T	uc002gim.2	-	8	1050	c.856G>A	c.(856-858)GAA>AAA	p.E286K	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E286K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E154K|TP53_uc010cng.1_Missense_Mutation_p.E154K|TP53_uc002gii.1_Missense_Mutation_p.E154K|TP53_uc010cnh.1_Missense_Mutation_p.E286K|TP53_uc010cni.1_Missense_Mutation_p.E286K|TP53_uc002gij.2_Missense_Mutation_p.E286K	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	286	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> V (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> G (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286K(52)|p.E286*(14)|p.E286G(14)|p.0?(7)|p.E286V(6)|p.E286Q(5)|p.?(2)|p.E286D(2)|p.E286E(2)|p.R283fs*16(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.E286A(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.E285_L289delEEENL(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGATTCTCTTCCTCTGTGCGC	0.557		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577082	C	T	7577082	3	4	111	1	0	0	0	0	1	0	0	0	16378	864	30	4	430	4	TP53	17	7577082	Missense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	429554	7577082	73618128	79	74181											
NF1	4763	broad.mit.edu	37	chr17	29508492	29508493	+	Frame_Shift_Del	DEL	AA	AA	-													gttgcgcagttagcagttatAaatagcctggaaaaggtaag							TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr17:29508492_29508493delAA	uc002hgg.2	+	6	972_973	c.639_640delAA	c.(637-642)ATAAATfs	p.I213fs	NF1_uc002hge.1_Frame_Shift_Del_p.I213fs|NF1_uc002hgf.1_Frame_Shift_Del_p.I213fs|NF1_uc002hgh.2_Frame_Shift_Del_p.I213fs|NF1_uc010csn.1_Frame_Shift_Del_p.I73fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	213_214					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAGCAGTTATAAATAGCCTGGA	0.297			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29508493	AA	-	29508492	7	5	111	1	0	1	0	1	0	0	0	0	10356	352	13	0	661	0	NF1	17	29508492	Frame_Shift_Del	DEL	AA	TCGA-BR-A44U-01A-11D-A24D-08	21931410	29508492	51686718	80	74182											
IMP5	162540	broad.mit.edu	37	chr17	43924090	43924090	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccgagggctggagtgaCgcccacttggatcctaatga	13	11	0	2			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr17:43924090C>T	uc010wka.1	+	1	1818	c.1818C>T	c.(1816-1818)GAC>GAT	p.D606D	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	606	Extracellular (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		GCTGGAGTGACGCCCACTTGG	0.577													T	43924090	C	T	43924090	2	4	111	1	0	0	0	0	0	0	0	1	7721	535	19	1		1	IMP5	17	43924090	Silent	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	14415598	43924090	37271120	81	74183											
RNF43	54894	broad.mit.edu	37	chr17	56448298	56448299	+	Frame_Shift_Ins	INS	-	-	G													gccagtgacaggcaggggcgINSgggggcccgtcgaggactct					rs2257205	byFrequency	TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr17:56448297_56448298C>CG	uc002iwf.3	-	1	2305_2306	c.349_350G>CG	c.(349-351)cgcfs	p.R117fs	RNF43_uc010wnv.2_Intron|RNF43_uc002iwh.4_Frame_Shift_Ins_p.R117fs|RNF43_uc002iwg.4_Frame_Shift_Ins_p.R117fs|RNF43_uc010dcw.3_5'UTR	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	117			R -> H (in dbSNP:rs2257205).			endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGGCAGGGGCGGGGGGCCCGT	0.604													G	56448299	-	G	56448298	7	5	111	1	0	1	1	0	0	0	0	0	13495	1116	39	0	2034	0	RNF43	17	56448298	Frame_Shift_Ins	INS	-	TCGA-BR-A44U-01A-11D-A24D-08	12524208	56448298	24746912	82	74184											
NOTUM	147111	broad.mit.edu	37	chr17	79910990	79910990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggacggtggggcatgagggGttgcagtggggccaggggca	23	7	0	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr17:79910990G>A	uc010wvg.1	-	11	1610	c.1338C>T	c.(1336-1338)AAC>AAT	p.N446N		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog precursor	446						extracellular region	hydrolase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGCATGAGGGGTTGCAGTGGG	0.657													A	79910990	G	A	79910990	2	1	111	1	0	0	0	0	0	0	0	1	10552	1252	44	4		4	NOTUM	17	79910990	Silent	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	23462692	79910990	1284220	83	74185											
SLC16A3	9123	broad.mit.edu	37	chr17	80195301	80195301	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaccctcccggcgcctgctaGacctgagcgtcttccgggac	12	17	1	2			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr17:80195301G>A	uc002kea.2	+	4	794	c.655G>A	c.(655-657)GAC>AAC	p.D219N	SLC16A3_uc002kee.2_Missense_Mutation_p.D219N|SLC16A3_uc002keb.2_Missense_Mutation_p.D219N|SLC16A3_uc002kec.2_Missense_Mutation_p.D219N|SLC16A3_uc002ked.2_Missense_Mutation_p.D219N	NM_001042422	NP_001035887	O15427	MOT4_HUMAN	solute carrier family 16, member 3	219	Cytoplasmic (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			upper_aerodigestive_tract(1)|lung(1)	2	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	GCGCCTGCTAGACCTGAGCGT	0.701													A	80195301	G	A	80195301	3	1	111	1	0	0	0	0	1	0	0	0	14409	942	33	4	665	4	SLC16A3	17	80195301	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	284311	80195301	999909	84	74186											
EPB41L3	23136	broad.mit.edu	37	chr18	5397266	5397266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgtgctgcagcatcccCgctgtctcccgccgagtaag	13	15	1	0	rs140662824		TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr18:5397266C>T	uc002kmt.1	-	18	2718	c.2632G>A	c.(2632-2634)GGG>AGG	p.G878R	EPB41L3_uc010wzh.1_Missense_Mutation_p.G709R|EPB41L3_uc002kmu.1_Missense_Mutation_p.G656R|EPB41L3_uc010dkq.1_Missense_Mutation_p.G547R|EPB41L3_uc002kms.1_Missense_Mutation_p.G113R|EPB41L3_uc010wze.1_Missense_Mutation_p.G183R|EPB41L3_uc010wzf.1_Missense_Mutation_p.G175R|EPB41L3_uc010wzg.1_Missense_Mutation_p.G150R|EPB41L3_uc010dkr.2_Missense_Mutation_p.G270R	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	878	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GCAGCATCCCCGCTGTCTCCC	0.617													T	5397266	C	T	5397266	3	4	111	1	0	0	0	0	1	0	0	0	5154	652	23	1	651	1	EPB41L3	18	5397266	Missense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08		5397266	72679982	85	74187											
CTAGE1	64693	broad.mit.edu	37	chr18	19995683	19995683	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaataatctggagaagctcCaaacacggttcctggaggag	11	8	1	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr18:19995683C>A	uc002ktv.1	-	1	2196	c.2092G>T	c.(2092-2094)GGA>TGA	p.G698*		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	698	Pro-rich.					integral to membrane				ovary(1)	1	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGAGAAGCTCCAAACACGGTT	0.473													A	19995683	C	A	19995683	4	1	111	1	0	0	0	0	0	1	0	0	3992	603	21	5	149	5	CTAGE1	18	19995683	Nonsense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	14598417	19995683	58081565	86	74188											
RIOK3	8780	broad.mit.edu	37	chr18	21053570	21053570	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccgcatgtgggcagaaaaAgaaatgcacaatctcgcaag	10	9	1	2			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr18:21053570A>G	uc002kui.3	+	8	1610	c.993A>G	c.(991-993)AAA>AAG	p.K331K	RIOK3_uc010dls.2_Silent_p.K331K|RIOK3_uc010xas.1_Silent_p.K315K|RIOK3_uc010xat.1_Intron	NM_003831	NP_003822	O14730	RIOK3_HUMAN	sudD suppressor of bimD6 homolog	331	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGGCAGAAAAAGAAATGCACA	0.323													G	21053570	A	G	21053570	2	3	111	1	0	0	0	0	0	0	0	1	13379	69	3	3		3	RIOK3	18	21053570	Silent	SNP	A	TCGA-BR-A44U-01A-11D-A24D-08	1057887	21053570	57023678	87	74189											
ZNF521	25925	broad.mit.edu	37	chr18	22804824	22804824	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgcacaccacgcagcgaaAgcctgtcagggaattcctca	9	14	2	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr18:22804824A>C	uc002kvk.2	-	4	3305	c.3058T>G	c.(3058-3060)TTT>GTT	p.F1020V	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.F1020V|ZNF521_uc002kvl.2_Missense_Mutation_p.F800V	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	1020	C2H2-type 24.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ACGCAGCGAAAGCCTGTCAGG	0.502			T	PAX5	ALL								C	22804824	A	C	22804824	3	2	111	1	0	0	0	0	1	0	0	0	17962	72	3	5	897	5	ZNF521	18	22804824	Missense_Mutation	SNP	A	TCGA-BR-A44U-01A-11D-A24D-08	1751254	22804824	55272424	88	74190											
ZNF516	9658	broad.mit.edu	37	chr18	74091693	74091693	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accattgggctgaatccacgGgggagccacggagttgcagc	15	11	0	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr18:74091693G>C	uc010dqx.1	-	3	2612	c.2377C>G	c.(2377-2379)CCG>GCG	p.P793A	ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	793					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TGAATCCACGGGGGAGCCACG	0.597													C	74091693	G	C	74091693	3	2	111	1	0	0	0	0	1	0	0	0	17957	1232	43	5	1131	5	ZNF516	18	74091693	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	51286869	74091693	3985555	89	74191											
TMPRSS9	360200	broad.mit.edu	37	chr19	2422066	2422066	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatgctggccaccaccagccCcaggacgacagctggcctca	11	17	1	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr19:2422066C>G	uc010xgx.1	+	13	2267	c.2267C>G	c.(2266-2268)CCC>CGC	p.P756R		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	756	Extracellular (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCACCAGCCCCAGGACGACA	0.657													G	2422066	C	G	2422066	3	3	111	1	0	0	0	0	1	0	0	0	16250	623	22	5	2317	5	TMPRSS9	19	2422066	Missense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08		2422066	56706917	90	74192											
LONP1	9361	broad.mit.edu	37	chr19	5692169	5692171	+	In_Frame_Del	DEL	CTT	CTT	-													gctgccaggtcgtagaagtcCttcttgttctcggctggcag							TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr19:5692168_5692170CCTT>C	uc002mcx.3	-	17	2786_2788	c.2753_2755AAGG>G	c.(2752-2757)aaggac>aGac	p.918_919KD>R	LONP1_uc002mcy.3_In_Frame_Del_p.854_855KD>R|LONP1_uc010duh.3_In_Frame_Del_p.659_660KD>R|LONP1_uc010dui.3_In_Frame_Del_p.902_903KD>R|LONP1_uc002mcz.3_In_Frame_Del_p.722_723KD>R	NM_004793	NP_004784	P36776	LONM_HUMAN	Homo sapiens lon peptidase 1, mitochondrial (LONP1), nuclear gene encoding mitochondrial protein, mRNA.	918					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	p.D919V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCGTAGAAGTCCTTCTTGTTCTC	0.65													-	5692171	CTT	-	5692169	7	5	111	1	0	1	0	1	0	0	0	0	8892	680	24	0	129	0	LONP1	19	5692169	In_Frame_Del	DEL	CTT	TCGA-BR-A44U-01A-11D-A24D-08	3270103	5692169	53436814	91	74193											
MAP1S	55201	broad.mit.edu	37	chr19	17836661	17836661	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggacatcctggccaccacGcccccacctgtgcagccgcc	10	21	0	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr19:17836661G>A	uc002nhe.1	+	5	477	c.468G>A	c.(466-468)ACG>ACA	p.T156T	MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Silent_p.T156T|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Silent_p.T130T	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	156	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						TGGCCACCACGCCCCCACCTG	0.657													A	17836661	G	A	17836661	2	1	111	1	0	0	0	0	0	0	0	1	9234	1074	38	1		1	MAP1S	19	17836661	Silent	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	12144492	17836661	41292322	92	74194											
ISYNA1	51477	broad.mit.edu	37	chr19	18546941	18546941	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaaaacccggtgctgccaCgcgagctcaagagctccggg	12	14	1	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr19:18546941C>T	uc002njd.1	-	7	926	c.876G>A	c.(874-876)GCG>GCA	p.A292A	ISYNA1_uc002nja.1_Silent_p.A164A|ISYNA1_uc002njb.1_Silent_p.A210A|ISYNA1_uc002njc.1_Silent_p.A142A|ISYNA1_uc010xqh.1_Silent_p.A90A|ISYNA1_uc002nje.1_Silent_p.A238A|ISYNA1_uc002njf.1_Silent_p.A142A	NM_016368	NP_057452	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	292					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			ovary(1)|pancreas(1)	2						GGTGCTGCCACGCGAGCTCAA	0.622													T	18546941	C	T	18546941	2	4	111	1	0	0	0	0	0	0	0	1	7867	523	19	1		1	ISYNA1	19	18546941	Silent	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	710280	18546941	40582042	93	74195											
GSK3A	2931	broad.mit.edu	37	chr19	42736836	42736836	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgttcgagatttgaacaccTgagggatgggtgcagggctc	16	8	0	3			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr19:42736836T>C	uc002otb.1	-	9	1218	c.1099_splice	c.e9-1	p.V367_splice	GSK3A_uc002ota.1_Splice_Site_p.V285_splice|GSK3A_uc002otc.2_Splice_Site	NM_019884	NP_063937	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha						insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			ovary(2)|lung(2)	4		Prostate(69;0.00682)				TTTGAACACCTGAGGGATGGG	0.592													C	42736836	T	C	42736836	5	2	111	1	0	0	0	0	0	0	1	0	6823	1594	55	3	366	3	GSK3A	19	42736836	Splice_Site	SNP	T	TCGA-BR-A44U-01A-11D-A24D-08	24189895	42736836	16392147	94	74196											
CEACAM8	1088	broad.mit.edu	37	chr19	43098028	43098028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagctgagcagtggtgggcGggttccagaaggtgaaaagt	18	5	0	4			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr19:43098028G>A	uc002oud.2	-	2	191	c.89C>T	c.(88-90)CCG>CTG	p.P30L	uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion	30					immune response	anchored to membrane|extracellular space|integral to plasma membrane				ovary(1)	1		Prostate(69;0.00899)				AGTGGTGGGCGGGTTCCAGAA	0.507													A	43098028	G	A	43098028	3	1	111	1	0	0	0	0	1	0	0	0	3198	1116	39	1	976	1	CEACAM8	19	43098028	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	361192	43098028	16030955	95	74197											
KLK13	26085	broad.mit.edu	37	chr19	51559976	51559976	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccacatgggaagtctccCcaggagacgatgccatacag	11	13	1	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr19:51559976C>T	uc002pvn.2	-	5	745	c.702G>A	c.(700-702)TGG>TGA	p.W234*	KLK13_uc002pvl.2_RNA|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_RNA|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Nonsense_Mutation_p.W161*|KLK13_uc002pvq.2_RNA|KLK13_uc010eoo.2_Nonsense_Mutation_p.W82*	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	kallikrein 13 precursor	234	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GGAAGTCTCCCCAGGAGACGA	0.552													T	51559976	C	T	51559976	4	4	111	1	0	0	0	0	0	1	0	0	8401	624	22	4	135	4	KLK13	19	51559976	Nonsense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	8461948	51559976	7569007	96	74198											
UBOX5	22888	broad.mit.edu	37	chr20	3102959	3102959	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaacgcctccttgtctgggAcagatggctcagctgggccc	13	13	2	2			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr20:3102959A>T	uc002whw.2	-	3	496	c.326T>A	c.(325-327)GTC>GAC	p.V109D	uc002whv.1_Intron|UBOX5_uc002whx.2_Missense_Mutation_p.V109D|UBOX5_uc002why.1_Missense_Mutation_p.V109D	NM_014948	NP_055763	O94941	RNF37_HUMAN	U-box domain containing 5 isoform a	109						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						CTTGTCTGGGACAGATGGCTC	0.557													T	3102959	A	T	3102959	3	4	111	1	0	0	0	0	1	0	0	0	16891	275	10	5	1311	5	UBOX5	20	3102959	Missense_Mutation	SNP	A	TCGA-BR-A44U-01A-11D-A24D-08		3102959	59922561	97	74199											
CST4	1472	broad.mit.edu	37	chr20	23669411	23669411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcagcacctgcagcgggcGtctgtagtactcatcttcgg	12	13	3	0	rs150921984		TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr20:23669411G>A	uc002wto.1	-	1	252	c.196C>T	c.(196-198)CGC>TGC	p.R66C		NM_001899	NP_001890	P01036	CYTS_HUMAN	cystatin S precursor	66						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)	1	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					TGCAGCGGGCGTCTGTAGTAC	0.602													A	23669411	G	A	23669411	3	1	111	1	0	0	0	0	1	0	0	0	3974	1145	40	1	241	1	CST4	20	23669411	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	20566452	23669411	39356109	98	74200											
PXMP4	11264	broad.mit.edu	37	chr20	32298497	32298497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgtaggtgaacacaaacCgtgccaggttccaggagtgg	13	10	0	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr20:32298497C>T	uc002wzv.2	-	3	362	c.239G>A	c.(238-240)CGG>CAG	p.R80Q	PXMP4_uc002wzw.2_Intron|PXMP4_uc010zuh.1_Missense_Mutation_p.G87S	NM_007238	NP_009169	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4 isoform a	80						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity				0						GAACACAAACCGTGCCAGGTT	0.587													T	32298497	C	T	32298497	3	4	111	1	0	0	0	0	1	0	0	0	12851	652	23	1	407	1	PXMP4	20	32298497	Missense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	8629086	32298497	30727023	99	74201											
MYH7B	57644	broad.mit.edu	37	chr20	33588873	33588873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaagacgctggagcagaCggtgcgcgagctccaggccc	16	12	0	3			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr20:33588873C>T	uc002xbi.1	+	39	5605	c.5513C>T	c.(5512-5514)ACG>ATG	p.T1838M		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	1796	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTGGAGCAGACGGTGCGCGAG	0.647													T	33588873	C	T	33588873	3	4	111	1	0	0	0	0	1	0	0	0	10040	536	19	1	5667	1	MYH7B	20	33588873	Missense_Mutation	SNP	C	TCGA-BR-A44U-01A-11D-A24D-08	1290376	33588873	29436647	100	74202											
SYN1	6853	broad.mit.edu	37	chrX	47435945	47435945	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggacacgcacgtcatatTtggcatcgatgaagggctcg	12	10	2	1			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chrX:47435945T>C	uc004die.2	-	7	1061	c.932A>G	c.(931-933)AAA>AGA	p.K311R	SYN1_uc004did.2_Missense_Mutation_p.K311R	NM_006950	NP_008881	P17600	SYN1_HUMAN	synapsin I isoform Ia	311	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			ovary(1)	1						CACGTCATATTTGGCATCGAT	0.552													C	47435945	T	C	47435945	3	2	111	1	0	0	0	0	1	0	0	0	15437	1841	64	3	1213	3	SYN1	23	47435945	Missense_Mutation	SNP	T	TCGA-BR-A44U-01A-11D-A24D-08		47435945	107834615	101	74203											
LRCH2	57631	broad.mit.edu	37	chrX	114468294	114468294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtcgtagccgctgcccGggaagtctcggagtttccga	14	12	2	0			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chrX:114468294G>A	uc010nqe.2	-	1	342	c.311C>T	c.(310-312)CCG>CTG	p.P104L	LRCH2_uc004epz.2_Missense_Mutation_p.P104L	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH)	104	LRR 1.									ovary(1)	1						GCCGCTGCCCGGGAAGTCTCG	0.682													A	114468294	G	A	114468294	3	1	111	1	0	0	0	0	1	0	0	0	8933	1116	39	1	2070	1	LRCH2	23	114468294	Missense_Mutation	SNP	G	TCGA-BR-A44U-01A-11D-A24D-08	67032349	114468294	40802266	102	74204											
RHCE	6006	broad.mit.edu	37	chr1	25712312	25712312	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgacggagatgtggtgaatCcccagcactcggttacaaca	11	10	0	3			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:25712312C>T	uc001bkf.2	-	7	1049	c.963G>A	c.(961-963)GGG>GGA	p.G321G	RHCE_uc001bkg.2_Intron|RHCE_uc001bkh.2_Silent_p.G216G|RHCE_uc001bki.2_Silent_p.G170G|RHCE_uc001bkj.2_Silent_p.G305G	NM_020485	NP_065231	P18577	RHCE_HUMAN	Rhesus blood group, CcEe antigens isoform 1	321						integral to plasma membrane					0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGGTGAATCCCCAGCACTC	0.512													T	25712312	C	T	25712312	2	4	112	1	0	0	0	0	0	0	0	1	13325	842	30	4		4	RHCE	1	25712312	Silent	SNP	C	TCGA-BR-A452-01A-91D-A25D-08		25712312	223538309	1	74205											
LRRC7	57554	broad.mit.edu	37	chr1	70503883	70503883	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcaatataccacagcgTcctgaccggctgcccatgag	10	15	0	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:70503883T>C	uc001dep.2	+	19	2292	c.2262T>C	c.(2260-2262)CGT>CGC	p.R754R	LRRC7_uc009wbg.2_Silent_p.R38R|LRRC7_uc001deq.2_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	754						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TACCACAGCGTCCTGACCGGC	0.517													C	70503883	T	C	70503883	2	2	112	1	0	0	0	0	0	0	0	1	9020	1654	58	3		3	LRRC7	1	70503883	Silent	SNP	T	TCGA-BR-A452-01A-91D-A25D-08	44791571	70503883	178746738	2	74206											
SLC44A5	204962	broad.mit.edu	37	chr1	75680342	75680342	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttttgctgacctgcagaAgtttctgccatatattgcaa	7	9	2	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:75680342A>C	uc001dgu.2	-	20	1894	c.1750T>G	c.(1750-1752)TTC>GTC	p.F584V	SLC44A5_uc001dgt.2_Missense_Mutation_p.F584V|SLC44A5_uc001dgs.2_Missense_Mutation_p.F542V|SLC44A5_uc001dgr.2_Missense_Mutation_p.F542V|SLC44A5_uc010oqz.1_Missense_Mutation_p.F623V|SLC44A5_uc010ora.1_Missense_Mutation_p.F578V|SLC44A5_uc010orb.1_Missense_Mutation_p.F454V	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	584	Cytoplasmic (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)|skin(2)	4						GACCTGCAGAAGTTTCTGCCA	0.383													C	75680342	A	C	75680342	3	2	112	1	0	0	0	0	1	0	0	0	14639	72	3	5	540	5	SLC44A5	1	75680342	Missense_Mutation	SNP	A	TCGA-BR-A452-01A-91D-A25D-08	5176459	75680342	173570279	3	74207											
COL24A1	255631	broad.mit.edu	37	chr1	86241374	86241374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagtttcacctctaaagcCcttttcacctctgggtccct	5	15	4	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:86241374C>T	uc001dlj.2	-	53	4399	c.4357G>A	c.(4357-4359)GGC>AGC	p.G1453S	COL24A1_uc001dli.2_Missense_Mutation_p.G589S|COL24A1_uc010osd.1_Missense_Mutation_p.G753S|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_Intron	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1453	Collagen-like 17.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCTCTAAAGCCCTTTTCACCT	0.244													T	86241374	C	T	86241374	3	4	112	1	0	0	0	0	1	0	0	0	3683	623	22	4	819	4	COL24A1	1	86241374	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	10561032	86241374	163009247	4	74208											
ITGA10	8515	broad.mit.edu	37	chr1	145537786	145537786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccccttctgctcatgcccGgctctgcagtgtggggcatc	12	16	3	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:145537786G>A	uc001eoa.2	+	21	2700	c.2624G>A	c.(2623-2625)CGG>CAG	p.R875Q	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.R744Q|ITGA10_uc009wiw.2_Missense_Mutation_p.R732Q|ITGA10_uc010oyw.1_Missense_Mutation_p.R820Q	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	875	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTCATGCCCGGCTCTGCAGT	0.592													A	145537786	G	A	145537786	3	1	112	1	0	0	0	0	1	0	0	0	7873	1116	39	1	2706	1	ITGA10	1	145537786	Missense_Mutation	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	59296412	145537786	103712835	5	74209											
LCE1A	353131	broad.mit.edu	37	chr1	152800031	152800031	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccaagtgccccactcctaAgtgccccccaaagtgtcccc	6	20	0	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:152800031A>C	uc010pdw.1	+	1	83	c.83A>C	c.(82-84)AAG>ACG	p.K28T		NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	28	Cys-rich.				keratinization					ovary(1)|skin(1)	2	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			cccactcctaagtgcccccca	0.423													C	152800031	A	C	152800031	3	2	112	1	0	0	0	0	1	0	0	0	8659	72	3	5	85	5	LCE1A	1	152800031	Missense_Mutation	SNP	A	TCGA-BR-A452-01A-91D-A25D-08	7262245	152800031	96450590	6	74210											
SPTA1	6708	broad.mit.edu	37	chr1	158654936	158654936	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatagctcttatcggttaAgatattgactttctccatga	6	8	3	3			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:158654936A>G	uc001fst.1	-	2	425	c.226T>C	c.(226-228)TTA>CTA	p.L76L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	76	Spectrin 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TTATCGGTTAAGATATTGACT	0.284													G	158654936	A	G	158654936	2	3	112	1	0	0	0	0	0	0	0	1	15115	69	3	3		3	SPTA1	1	158654936	Silent	SNP	A	TCGA-BR-A452-01A-91D-A25D-08	5854905	158654936	90595685	7	74211											
PAPPA2	60676	broad.mit.edu	37	chr1	176668606	176668606	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcactcctgacttctcaGccccacagtcccttgtgctc	7	18	1	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:176668606G>A	uc001gkz.2	+	8	4281	c.3117G>A	c.(3115-3117)CAG>CAA	p.Q1039Q	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1039					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						TGACTTCTCAGCCCCACAGTC	0.557													A	176668606	G	A	176668606	2	1	112	1	0	0	0	0	0	0	0	1	11433	962	34	2		2	PAPPA2	1	176668606	Silent	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	18013670	176668606	72582015	8	74212											
ASTN1	460	broad.mit.edu	37	chr1	176992545	176992545	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctcccgcctaccagttTcggggtcacattggtgttca	12	12	2	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:176992545T>C	uc001glc.2	-	7	1645	c.1433A>G	c.(1432-1434)GAA>GGA	p.E478G	ASTN1_uc001glb.1_Missense_Mutation_p.E478G|ASTN1_uc001gld.1_Missense_Mutation_p.E478G|ASTN1_uc009wwx.1_Missense_Mutation_p.E478G|ASTN1_uc001gle.3_RNA	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	478	EGF-like 1.				cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						CCTACCAGTTTCGGGGTCACA	0.597													C	176992545	T	C	176992545	3	2	112	1	0	0	0	0	1	0	0	0	1064	1783	62	3	2523	3	ASTN1	1	176992545	Missense_Mutation	SNP	T	TCGA-BR-A452-01A-91D-A25D-08	323939	176992545	72258076	9	74213											
KCNT2	343450	broad.mit.edu	37	chr1	196309524	196309524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaaggtccatgataaaacGacctggacacattgcttttt	9	8	0	1	rs140538298		TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:196309524G>A	uc001gtd.1	-	16	1790	c.1730C>T	c.(1729-1731)TCG>TTG	p.S577L	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.S527L|KCNT2_uc001gtf.1_Missense_Mutation_p.S577L|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.S577L|KCNT2_uc001gth.1_Missense_Mutation_p.S98L	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	577	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						ATGATAAAACGACCTGGACAC	0.299													A	196309524	G	A	196309524	3	1	112	1	0	0	0	0	1	0	0	0	8092	1059	37	1	1729	1	KCNT2	1	196309524	Missense_Mutation	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	19316979	196309524	52941097	10	74214											
OBSCN	84033	broad.mit.edu	37	chr1	228432100	228432100	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtggcccaggcccagacGgaggtgacgtggtacaagga	18	9	0	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:228432100G>A	uc009xez.1	+	11	3353	c.3309G>A	c.(3307-3309)ACG>ACA	p.T1103T	OBSCN_uc001hsn.2_Silent_p.T1103T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1103	Ig-like 11.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGGCCCAGACGGAGGTGACGT	0.602													A	228432100	G	A	228432100	2	1	112	1	0	0	0	0	0	0	0	1	10812	1103	39	1		1	OBSCN	1	228432100	Silent	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	32122576	228432100	20818521	11	74215											
OBSCN	84033	broad.mit.edu	37	chr1	228526004	228526004	+	Frame_Shift_Del	DEL	G	G	-													tcaccagctgtcacctgagtGgggggccgctgaggcccctg							TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:228526004delG	uc009xez.1	+	68	17059	c.17015delG	c.(17014-17016)TGGfs	p.W5672fs	OBSCN_uc001hsn.2_Frame_Shift_Del_p.W5672fs|OBSCN_uc001hsr.1_Frame_Shift_Del_p.W300fs	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5672					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TCACCTGAGTGGGGGGCCGCT	0.647													-	228526004	G	-	228526004	7	5	112	1	0	1	0	1	0	0	0	0	10812	1357	47	0	17281	0	OBSCN	1	228526004	Frame_Shift_Del	DEL	G	TCGA-BR-A452-01A-91D-A25D-08	93904	228526004	20724617	12	74216											
CHML	1122	broad.mit.edu	37	chr1	241797705	241797705	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgtaatgagtactgccctaGagatctgcttatactgcaca	8	10	1	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:241797705G>C	uc001hzd.2	-	1	1528	c.1364C>G	c.(1363-1365)TCT>TGT	p.S455C	OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	choroideremia-like Rab escort protein 2	455					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(4)|skin(2)	6	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TACTGCCCTAGAGATCTGCTT	0.388													C	241797705	G	C	241797705	3	2	112	1	0	0	0	0	1	0	0	0	3351	942	33	5	610	5	CHML	1	241797705	Missense_Mutation	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	13271701	241797705	7452916	13	74217											
OR2T6	254879	broad.mit.edu	37	chr1	248551519	248551519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgatgtatgtgtgctgcGttgcaatgctgctgatcccc	12	10	0	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:248551519G>A	uc001iei.1	+	1	610	c.610G>A	c.(610-612)GTT>ATT	p.V204I		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	204	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGTGCTGCGTTGCAATGCT	0.517													A	248551519	G	A	248551519	3	1	112	1	0	0	0	0	1	0	0	0	11029	1145	40	1	612	1	OR2T6	1	248551519	Missense_Mutation	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	6753814	248551519	699102	14	74218											
PXDN	7837	broad.mit.edu	37	chr2	1648500	1648500	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgagcgccggaaacaggtcGatgttgagtgtcgagccata	14	9	0	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:1648500G>A	uc002qxa.2	-	18	3697	c.3633C>T	c.(3631-3633)ATC>ATT	p.I1211I		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1211					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GAAACAGGTCGATGTTGAGTG	0.498													A	1648500	G	A	1648500	2	1	112	1	0	0	0	0	0	0	0	1	12847	1048	37	1		1	PXDN	2	1648500	Silent	SNP	G	TCGA-BR-A452-01A-91D-A25D-08		1648500	241550873	15	74219											
APOB	338	broad.mit.edu	37	chr2	21226009	21226009	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaagacacttctctcagggtGagccctgtgtgttcccagtg	12	11	2	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:21226009G>A	uc002red.2	-	29	12413	c.12285C>T	c.(12283-12285)CTC>CTT	p.L4095L		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4095					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTCTCAGGGTGAGCCCTGTGT	0.478													A	21226009	G	A	21226009	2	1	112	1	0	0	0	0	0	0	0	1	785	1277	45	4		4	APOB	2	21226009	Silent	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	19577509	21226009	221973364	16	74220											
C2orf44	80304	broad.mit.edu	37	chr2	24253804	24253804	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agcaaggacactgcagatatCaagccatgccatctacatgg	9	11	2	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:24253804C>G	uc002rep.2	-	4	2296	c.2165G>C	c.(2164-2166)TGA>TCA	p.*722S	C2orf44_uc010eya.2_3'UTR	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	hypothetical protein LOC80304 isoform 1	722							protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCAGATATCAAGCCATGCC	0.493													G	24253804	C	G	24253804	4	3	112	1	0	0	0	0	0	0	0	0	2168	837	29	5	4	5	C2orf44	2	24253804	Nonstop_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	3027795	24253804	218945569	17	74221											
PRPF40A	55660	broad.mit.edu	37	chr2	153573873	153573873	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctctccatttcactcaccatGaggcctccacgctcagctcc	5	19	4	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:153573873G>T	uc002tyi.2	-	1	49	c.36C>A	c.(34-36)CTC>CTA	p.L12L	ARL6IP6_uc002tyn.2_5'Flank|ARL6IP6_uc002tym.2_5'Flank|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_Silent_p.L27L|PRPF40A_uc010zcd.1_Silent_p.L27L|PRPF40A_uc002tyj.2_5'UTR|PRPF40A_uc002tyl.1_Silent_p.L12L	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	12					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						CACTCACCATGAGGCCTCCAC	0.647													T	153573873	G	T	153573873	2	4	112	1	0	0	0	0	0	0	0	1	12571	1277	45	5		5	PRPF40A	2	153573873	Silent	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	129320069	153573873	89625500	18	74222											
RBM45	129831	broad.mit.edu	37	chr2	178980994	178980994	+	Frame_Shift_Del	DEL	C	C	-													ttgtttgtttcttaggttttCattgctcagtcccgatcatc							TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:178980993_178980993TC>T	uc002ulv.3	+	1	397	c.305_305TC>T	c.(304-306)ttcfs	p.F102fs		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	Homo sapiens RNA binding motif protein 45 (RBM45), mRNA.	102	RRM 1.				cell differentiation|nervous system development	cytoplasm|nucleus	RNA binding|nucleotide binding	p.V101I(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TCTTAGGTTTTCATTGCTCAG	0.318													-	178980994	C	-	178980994	7	5	112	1	0	1	0	1	0	0	0	0	13139	825	29	0	312	0	RBM45	2	178980994	Frame_Shift_Del	DEL	C	TCGA-BR-A452-01A-91D-A25D-08	25407121	178980994	64218379	19	74223											
TTN	7273	broad.mit.edu	37	chr2	179449931	179449931	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctgtctgctttatgcactgCcaggtggctggatgtgacaa	13	9	1	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:179449931C>G	uc010zfg.1	-	258	57060	c.56836G>C	c.(56836-56838)GCA>CCA	p.A18946P	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A12641P|TTN_uc010zfi.1_Missense_Mutation_p.A12574P|TTN_uc010zfj.1_Missense_Mutation_p.A12449P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19873							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTATGCACTGCCAGGTGGCTG	0.448													G	179449931	C	G	179449931	3	3	112	1	0	0	0	0	1	0	0	0	16732	739	26	5	43655	5	TTN	2	179449931	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	468937	179449931	63749442	20	74224											
TTN	7273	broad.mit.edu	37	chr2	179485111	179485111	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagaagctcagcaacagaTttatcttgtccagcagtgac	9	9	2	3			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:179485111T>C	uc010zfg.1	-	197	38657	c.38433A>G	c.(38431-38433)AAA>AAG	p.K12811K	TTN_uc010zfh.1_Silent_p.K6506K|TTN_uc010zfi.1_Silent_p.K6439K|TTN_uc010zfj.1_Silent_p.K6314K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13738							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCAACAGATTTATCTTGTC	0.443													C	179485111	T	C	179485111	2	2	112	1	0	0	0	0	0	0	0	1	16732	1490	52	3		3	TTN	2	179485111	Silent	SNP	T	TCGA-BR-A452-01A-91D-A25D-08	35180	179485111	63714262	21	74225											
TTN	7273	broad.mit.edu	37	chr2	179595319	179595319	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccactgtctgtaccttccaGctggctgatttccaagaagg	9	13	1	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:179595319G>T	uc010zfg.1	-	58	14433	c.14209C>A	c.(14209-14211)CTG>ATG	p.L4737M	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L1398M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5664							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACCTTCCAGCTGGCTGATT	0.428													T	179595319	G	T	179595319	3	4	112	1	0	0	0	0	1	0	0	0	16732	962	34	5	86796	5	TTN	2	179595319	Missense_Mutation	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	110208	179595319	63604054	22	74226											
TTN	7273	broad.mit.edu	37	chr2	179632580	179632580	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgccaccactgtgtacTtcccagcatcagacatccgg	7	17	1	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:179632580T>G	uc010zfg.1	-	40	9601	c.9377A>C	c.(9376-9378)AAG>ACG	p.K3126T	TTN_uc010zfh.1_Missense_Mutation_p.K3080T|TTN_uc010zfi.1_Missense_Mutation_p.K3080T|TTN_uc010zfj.1_Missense_Mutation_p.K3080T|TTN_uc002unb.2_Missense_Mutation_p.K3126T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3126							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGTGTACTTCCCAGCATC	0.448													G	179632580	T	G	179632580	3	3	112	1	0	0	0	0	1	0	0	0	16732	1609	56	5	101903	5	TTN	2	179632580	Missense_Mutation	SNP	T	TCGA-BR-A452-01A-91D-A25D-08	37261	179632580	63566793	23	74227											
USP37	57695	broad.mit.edu	37	chr2	219339499	219339499	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcagagatggtgaagcatctCtcttacttatctccaagaca	7	10	4	3			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:219339499C>G	uc002vie.2	-	20	2606	c.2153G>C	c.(2152-2154)AGA>ACA	p.R718T	USP37_uc010fvs.1_Missense_Mutation_p.R718T|USP37_uc010zkf.1_Missense_Mutation_p.R718T|USP37_uc002vif.2_Missense_Mutation_p.R718T|USP37_uc002vig.2_Missense_Mutation_p.R624T	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	718	UIM 1.				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TGAAGCATCTCTCTTACTTAT	0.418													G	219339499	C	G	219339499	3	3	112	1	0	0	0	0	1	0	0	0	17065	913	32	5	814	5	USP37	2	219339499	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	39706919	219339499	23859874	24	74228											
PAX3	5077	broad.mit.edu	37	chr2	223161818	223161818	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgagatgacgcagggccggAtgccgtggtgggccatctcc	17	12	1	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:223161818A>G	uc010fwo.2	-	2	566	c.200T>C	c.(199-201)ATC>ACC	p.I67T	PAX3_uc002vmt.1_Missense_Mutation_p.I67T|PAX3_uc002vmy.1_Missense_Mutation_p.I67T|PAX3_uc002vmv.1_Missense_Mutation_p.I67T|PAX3_uc002vmw.1_Missense_Mutation_p.I67T|PAX3_uc002vmx.1_Missense_Mutation_p.I67T|PAX3_uc002vmz.1_Missense_Mutation_p.I67T|PAX3_uc002vna.1_Missense_Mutation_p.I67T|CCDC140_uc002vnb.1_5'Flank	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	67	Paired.		Missing (in WS1).		apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGGGCCGGATGCCGTGGTG	0.657			T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						G	223161818	A	G	223161818	3	3	112	1	0	0	0	0	1	0	0	0	11480	333	12	3	1482	3	PAX3	2	223161818	Missense_Mutation	SNP	A	TCGA-BR-A452-01A-91D-A25D-08	3822319	223161818	20037555	25	74229											
CXCR7	57007	broad.mit.edu	37	chr2	237489897	237489897	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tacgtggtggtcttccttgtCtgctggctgccctaccacgt	11	13	2	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:237489897C>G	uc010fyq.2	+	3	1019	c.789C>G	c.(787-789)GTC>GTG	p.V263V	CXCR7_uc002vwd.2_Silent_p.V263V	NM_020311	NP_064707	P25106	CXCR7_HUMAN	chemokine orphan receptor 1	263	Helical; Name=6; (Potential).				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		TCTTCCTTGTCTGCTGGCTGC	0.602													G	237489897	C	G	237489897	2	3	112	1	0	0	0	0	0	0	0	1	4096	900	32	5		5	CXCR7	2	237489897	Silent	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	14328079	237489897	5709476	26	74230											
PER2	8864	broad.mit.edu	37	chr2	239161846	239161846	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgtgaggcagaggccatctCggatgtgagtgtggggtggc	19	7	1	3			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:239161846C>G	uc002vyc.2	-	19	3055	c.2818G>C	c.(2818-2820)GAG>CAG	p.E940Q	PER2_uc010znv.1_Missense_Mutation_p.E940Q	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	940	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GAGGCCATCTCGGATGTGAGT	0.642													G	239161846	C	G	239161846	3	3	112	1	0	0	0	0	1	0	0	0	11730	893	31	5	969	5	PER2	2	239161846	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	1671949	239161846	4037527	27	74231											
ZCWPW2	152098	broad.mit.edu	37	chr3	28562499	28562499	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagttgtctgtgagacggaAgttttactaaaagagctgga	12	4	1	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr3:28562499A>C	uc003ceh.2	+	9	969	c.801A>C	c.(799-801)GAA>GAC	p.E267D	ZCWPW2_uc003cei.2_Missense_Mutation_p.E267D|ZCWPW2_uc010hfo.2_Missense_Mutation_p.E72D	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	267							zinc ion binding			ovary(2)	2						GTGAGACGGAAGTTTTACTAA	0.378													C	28562499	A	C	28562499	3	2	112	1	0	0	0	0	1	0	0	0	17595	69	3	5	827	5	ZCWPW2	3	28562499	Missense_Mutation	SNP	A	TCGA-BR-A452-01A-91D-A25D-08		28562499	169459931	28	74232											
C3orf39	84892	broad.mit.edu	37	chr3	43121515	43121515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccacttctgcttccgtggtCctggccggcccttcaccacg	9	18	2	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr3:43121515C>T	uc003cmq.1	-	2	1550	c.1409G>A	c.(1408-1410)GGA>GAA	p.G470E	C3orf39_uc003cmr.1_Missense_Mutation_p.G470E	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	glycosyltransferase precursor	470						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)|skin(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		CTTCCGTGGTCCTGGCCGGCC	0.642													T	43121515	C	T	43121515	3	4	112	1	0	0	0	0	1	0	0	0	2229	855	30	4	337	4	C3orf39	3	43121515	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	14559016	43121515	154900915	29	74233											
PARP3	10039	broad.mit.edu	37	chr3	51981840	51981840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagagcaccatatcaacaCggacaaccccagcttgaaga	8	13	1	3			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr3:51981840C>T	uc003dby.2	+	10	1732	c.1361C>T	c.(1360-1362)ACG>ATG	p.T454M	PARP3_uc003dbz.2_Missense_Mutation_p.T461M	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	454	PARP catalytic.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CATATCAACACGGACAACCCC	0.587													T	51981840	C	T	51981840	3	4	112	1	0	0	0	0	1	0	0	0	11462	536	19	1	1420	1	PARP3	3	51981840	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	8860325	51981840	146040590	30	74234											
VGLL3	389136	broad.mit.edu	37	chr3	86996204	86996204	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgattccttactcttgtcTtgatgctgtagacctggaac	10	9	2	3			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr3:86996204T>C	uc003dqn.2	-	4	1315	c.951A>G	c.(949-951)CAA>CAG	p.Q317Q		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TACTCTTGTCTTGATGCTGTA	0.378													C	86996204	T	C	86996204	2	2	112	1	0	0	0	0	0	0	0	1	17157	1606	56	3		3	VGLL3	3	86996204	Silent	SNP	T	TCGA-BR-A452-01A-91D-A25D-08	35014364	86996204	111026226	31	74235											
COL8A1	1295	broad.mit.edu	37	chr3	99514979	99514979	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatttattgtatcccatgtAaaaacaaaaaaacaaaaaac	2	6	0	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr3:99514979A>G	uc003dtg.1	+	5	2479	c.2234A>G	c.(2233-2235)TAA>TGA	p.*745*	COL8A1_uc003dth.1_Silent_p.*745*|COL8A1_uc003dti.1_Silent_p.*746*	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	745					angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						TATCCCATGTAAAAACAAAAA	0.373													G	99514979	A	G	99514979	2	3	112	1	0	0	0	0	0	0	0	1	3705	369	13	3		3	COL8A1	3	99514979	Silent	SNP	A	TCGA-BR-A452-01A-91D-A25D-08	12518775	99514979	98507451	32	74236											
GRAMD1C	54762	broad.mit.edu	37	chr3	113595064	113595064	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaccaaggaaaaaactgctcGactcatcccaaacgctatcc	6	14	1	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr3:113595064G>T	uc003eaq.3	+	5	492	c.416G>T	c.(415-417)CGA>CTA	p.R139L	GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_Intron	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	139						integral to membrane				ovary(2)|skin(1)	3						AAAACTGCTCGACTCATCCCA	0.303													T	113595064	G	T	113595064	3	4	112	1	0	0	0	0	1	0	0	0	6749	1058	37	5	434	5	GRAMD1C	3	113595064	Missense_Mutation	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	14080085	113595064	84427366	33	74237											
TF	7018	broad.mit.edu	37	chr3	133494371	133494371	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaacctgtggaggagtatgcGaactgccacctggccagagc	13	11	0	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr3:133494371G>A	uc003epu.1	+	20	3510	c.1782G>A	c.(1780-1782)GCG>GCA	p.A594A	TF_uc011blt.1_Silent_p.A467A|TF_uc003epw.1_Intron|TF_uc003epv.1_Silent_p.A594A	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	594	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AGGAGTATGCGAACTGCCACC	0.498													A	133494371	G	A	133494371	2	1	112	1	0	0	0	0	0	0	0	1	15782	1045	37	1		1	TF	3	133494371	Silent	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	19899307	133494371	64528059	34	74238											
CEP63	80254	broad.mit.edu	37	chr3	134226057	134226057	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaggacgtacacatgctctaGaaacttgcttgaaaatccgt	8	9	1	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr3:134226057G>A	uc003eqo.1	+	4	600	c.151G>A	c.(151-153)GAA>AAA	p.E51K	CEP63_uc003eql.1_Missense_Mutation_p.E51K|CEP63_uc003eqm.2_Missense_Mutation_p.E51K|CEP63_uc003eqn.1_Missense_Mutation_p.E51K	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	51	Potential.				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			ovary(1)	1						ACATGCTCTAGAAACTTGCTT	0.383													A	134226057	G	A	134226057	3	1	112	1	0	0	0	0	1	0	0	0	3257	943	33	4	157	4	CEP63	3	134226057	Missense_Mutation	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	731686	134226057	63796373	35	74239											
SGEF	26084	broad.mit.edu	37	chr3	153847444	153847444	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcagagcccaaagaacagaAgtcagatgaaaaaattgtga	10	6	2	6			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr3:153847444A>C	uc011bog.1	+	4	1416	c.1205A>C	c.(1204-1206)AAG>ACG	p.K402T	SGEF_uc011boh.1_Missense_Mutation_p.K402T	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	Src homology 3 domain-containing guanine	402					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AAAGAACAGAAGTCAGATGAA	0.413													C	153847444	A	C	153847444	3	2	112	1	0	0	0	0	1	0	0	0	14205	72	3	5	1215	5	SGEF	3	153847444	Missense_Mutation	SNP	A	TCGA-BR-A452-01A-91D-A25D-08	19621387	153847444	44174986	36	74240											
PLD1	5337	broad.mit.edu	37	chr3	171455827	171455827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtatttacccgtggctcGtttttcagtgacatgttaac	10	8	1	1	rs145738077	byFrequency	TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr3:171455827G>A	uc003fhs.2	-	2	131	c.15C>T	c.(13-15)AAC>AAT	p.N5N	PLD1_uc003fht.2_Silent_p.N5N	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	5					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CCCGTGGCTCGTTTTTCAGTG	0.413													A	171455827	G	A	171455827	2	1	112	1	0	0	0	0	0	0	0	1	12045	1136	40	1		1	PLD1	3	171455827	Silent	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	17608383	171455827	26566603	37	74241											
WDFY3	23001	broad.mit.edu	37	chr4	85661406	85661406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcttggtcatggttcccaGgtcccaggatcaagtttctg	10	10	4	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr4:85661406G>A	uc003hpd.2	-	39	6806	c.6398C>T	c.(6397-6399)CCT>CTT	p.P2133L		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2133						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATGGTTCCCAGGTCCCAGGAT	0.448													A	85661406	G	A	85661406	3	1	112	1	0	0	0	0	1	0	0	0	17267	1000	35	4	4302	4	WDFY3	4	85661406	Missense_Mutation	SNP	G	TCGA-BR-A452-01A-91D-A25D-08		85661406	105492870	38	74242											
PCDH10	57575	broad.mit.edu	37	chr4	134071772	134071772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaactccttgcgcgactaCgagatcacccccaacagcta	6	17	1	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr4:134071772C>T	uc003iha.2	+	1	1303	c.477C>T	c.(475-477)TAC>TAT	p.Y159Y	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.Y159Y	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	159	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TGCGCGACTACGAGATCACCC	0.622													T	134071772	C	T	134071772	2	4	112	1	0	0	0	0	0	0	0	1	11507	547	19	1		1	PCDH10	4	134071772	Silent	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	48410366	134071772	57082504	39	74243											
USP38	84640	broad.mit.edu	37	chr4	144106705	144106705	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcggcggagcactggctagaCgaggcgcagtgcgaggccat	17	11	0	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr4:144106705C>G	uc003ijb.2	+	1	636	c.102C>G	c.(100-102)GAC>GAG	p.D34E	USP38_uc003ija.3_Missense_Mutation_p.D34E|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	34					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)					ACTGGCTAGACGAGGCGCAGT	0.647													G	144106705	C	G	144106705	3	3	112	1	0	0	0	0	1	0	0	0	17066	535	19	5	104	5	USP38	4	144106705	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	10034933	144106705	47047571	40	74244											
GZMK	3003	broad.mit.edu	37	chr5	54327247	54327247	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgctccacataagatccaAaacctctcttagatctggaa	6	11	2	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr5:54327247A>C	uc003jpl.1	+	4	463	c.419A>C	c.(418-420)AAA>ACA	p.K140T		NM_002104	NP_002095	P49863	GRAK_HUMAN	granzyme K precursor	140	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ATAAGATCCAAAACCTCTCTT	0.423													C	54327247	A	C	54327247	3	2	112	1	0	0	0	0	1	0	0	0	6918	14	1	5	433	5	GZMK	5	54327247	Missense_Mutation	SNP	A	TCGA-BR-A452-01A-91D-A25D-08		54327247	126588013	41	74245											
APC	324	broad.mit.edu	37	chr5	112111436	112111436	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctttaactgaaaatgTaagtaacttggcagtacaac	6	8	1	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr5:112111436T>G	uc010jby.2	+	5	911	c.531_splice	c.e5+2	p.N177_splice	APC_uc011cvt.1_Splice_Site_p.N187_splice|APC_uc003kpz.3_Splice_Site_p.N177_splice|APC_uc003kpy.3_Splice_Site_p.N177_splice|APC_uc010jbz.2_Splice_Site	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli						canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACTGAAAATGTAAGTAACTTG	0.294		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			G	112111436	T	G	112111436	5	3	112	1	0	0	0	0	0	0	1	0	763	1652	57	5	547	5	APC	5	112111436	Splice_Site	SNP	T	TCGA-BR-A452-01A-91D-A25D-08	57784189	112111436	68803824	42	74246											
PCDHA12	56137	broad.mit.edu	37	chr5	140257073	140257073	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgtcgctggtggagaaCggccaggccccaaagacgtc	15	12	0	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr5:140257073C>T	uc003lic.2	+	1	2143	c.2016C>T	c.(2014-2016)AAC>AAT	p.N672N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.N672N	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	672	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGAGAACGGCCAGGCCC	0.667													T	140257073	C	T	140257073	2	4	112	1	0	0	0	0	0	0	0	1	11522	535	19	1		1	PCDHA12	5	140257073	Silent	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	28145637	140257073	40658187	43	74247											
G3BP1	10146	broad.mit.edu	37	chr5	151179475	151179475	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tccagagtctaagcctgaatCtcagattccaccacaaagac	6	13	2	4			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr5:151179475C>G	uc003lun.2	+	9	1040	c.869C>G	c.(868-870)TCT>TGT	p.S290C	G3BP1_uc003lum.2_Missense_Mutation_p.S290C|G3BP1_uc011dcu.1_Missense_Mutation_p.S108C|G3BP1_uc010jhz.2_Missense_Mutation_p.S108C|G3BP1_uc003luq.2_Translation_Start_Site	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	290					Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AAGCCTGAATCTCAGATTCCA	0.413													G	151179475	C	G	151179475	3	3	112	1	0	0	0	0	1	0	0	0	6141	913	32	5	899	5	G3BP1	5	151179475	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	10922402	151179475	29735785	44	74248											
FAM50B	26240	broad.mit.edu	37	chr6	3850759	3850759	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggagcagctcatgttcatCaaggaggacctcatcctgcc	11	12	4	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr6:3850759C>T	uc003mvu.2	+	2	826	c.714C>T	c.(712-714)ATC>ATT	p.I238I		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	238						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TCATGTTCATCAAGGAGGACC	0.627													T	3850759	C	T	3850759	2	4	112	1	0	0	0	0	0	0	0	1	5578	816	29	4		4	FAM50B	6	3850759	Silent	SNP	C	TCGA-BR-A452-01A-91D-A25D-08		3850759	167264308	45	74249											
F13A1	2162	broad.mit.edu	37	chr6	6318886	6318886	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccaaaggcggtcctggaAgtttctgacatttttgactt	9	10	1	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr6:6318886A>C	uc003mwv.2	-	2	135	c.12T>G	c.(10-12)ACT>ACG	p.T4T	F13A1_uc011dib.1_Silent_p.T4T	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	4					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CGGTCCTGGAAGTTTCTGACA	0.453													C	6318886	A	C	6318886	2	2	112	1	0	0	0	0	0	0	0	1	5340	59	3	5		5	F13A1	6	6318886	Silent	SNP	A	TCGA-BR-A452-01A-91D-A25D-08	2468127	6318886	164796181	46	74250											
HIST1H4E	8367	broad.mit.edu	37	chr6	26204976	26204976	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcattaccaagcctgccaTccggcgccttgctcgtcgcg	12	16	0	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr6:26204976T>C	uc003ngy.2	+	1	104	c.104T>C	c.(103-105)ATC>ACC	p.I35T		NM_003545	NP_003536	P62805	H4_HUMAN	histone cluster 1, H4e	35					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1		all_hematologic(11;0.196)				AAGCCTGCCATCCGGCGCCTT	0.577													C	26204976	T	C	26204976	3	2	112	1	0	0	0	0	1	0	0	0	7169	1435	50	3	106	3	HIST1H4E	6	26204976	Missense_Mutation	SNP	T	TCGA-BR-A452-01A-91D-A25D-08	19886090	26204976	144910091	47	74251											
IMPG1	3617	broad.mit.edu	37	chr6	76751661	76751661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaaatctgtttcatggattCctgtggacagactttaaccc	7	9	2	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr6:76751661C>T	uc003pik.1	-	2	380	c.250G>A	c.(250-252)GAA>AAA	p.E84K		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	84					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTCATGGATTCCTGTGGACAG	0.383													T	76751661	C	T	76751661	3	4	112	1	0	0	0	0	1	0	0	0	7728	864	30	4	2207	4	IMPG1	6	76751661	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	50546685	76751661	94363406	48	74252											
LAMA4	3910	broad.mit.edu	37	chr6	112454672	112454672	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagttgatatctaggggaAggtgtgctctgagggccctg	16	6	2	3			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr6:112454672A>C	uc003pvu.2	-	27	3884	c.3575T>G	c.(3574-3576)CTT>CGT	p.L1192R	LAMA4_uc003pvv.2_Missense_Mutation_p.L1185R|LAMA4_uc003pvt.2_Missense_Mutation_p.L1185R	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1192	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATCTAGGGGAAGGTGTGCTCT	0.448													C	112454672	A	C	112454672	3	2	112	1	0	0	0	0	1	0	0	0	8608	72	3	5	1948	5	LAMA4	6	112454672	Missense_Mutation	SNP	A	TCGA-BR-A452-01A-91D-A25D-08	35703011	112454672	58660395	49	74253											
TMEM200A	114801	broad.mit.edu	37	chr6	130762633	130762633	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attccattggggagtcgttgTcgagtcagtacaagtcatct	11	8	3	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr6:130762633T>A	uc003qca.2	+	3	1937	c.1066T>A	c.(1066-1068)TCG>ACG	p.S356T	TMEM200A_uc010kfh.2_Missense_Mutation_p.S356T|TMEM200A_uc010kfi.2_Missense_Mutation_p.S356T|TMEM200A_uc003qcb.2_Missense_Mutation_p.S356T	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	356	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GGAGTCGTTGTCGAGTCAGTA	0.527													A	130762633	T	A	130762633	3	1	112	1	0	0	0	0	1	0	0	0	16120	1667	58	5	1068	5	TMEM200A	6	130762633	Missense_Mutation	SNP	T	TCGA-BR-A452-01A-91D-A25D-08	18307961	130762633	40352434	50	74254											
SYNE1	23345	broad.mit.edu	37	chr6	152804233	152804233	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttaccttatgttgctcaAgtttccgttgtatcgtgttt	7	7	1	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr6:152804233A>C	uc010kiw.2	-	14	1939	c.1337T>G	c.(1336-1338)CTT>CGT	p.L446R	SYNE1_uc003qot.3_Missense_Mutation_p.L453R|SYNE1_uc003qou.3_Missense_Mutation_p.L446R|SYNE1_uc010kjb.1_Missense_Mutation_p.L429R|SYNE1_uc003qpa.1_Missense_Mutation_p.L446R|SYNE1_uc003qox.1_5'UTR	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	446	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)		ATGTTGCTCAAGTTTCCGTTG	0.507										HNSCC(10;0.0054)			C	152804233	A	C	152804233	3	2	112	1	0	0	0	0	1	0	0	0	15442	72	3	5	25661	5	SYNE1	6	152804233	Missense_Mutation	SNP	A	TCGA-BR-A452-01A-91D-A25D-08	22041600	152804233	18310834	51	74255											
THBS2	7058	broad.mit.edu	37	chr6	169623561	169623561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctttacaaatatcacccCgtccatcacctatgcacaaa	2	15	3	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr6:169623561C>T	uc003qwt.2	-	19	3031	c.2783G>A	c.(2782-2784)CGG>CAG	p.R928Q		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	928	TSP type-3 8.|Cell attachment site (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AATATCACCCCGTCCATCACC	0.383													T	169623561	C	T	169623561	3	4	112	1	0	0	0	0	1	0	0	0	15851	652	23	1	755	1	THBS2	6	169623561	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	16819328	169623561	1491506	52	74256											
POM121L12	285877	broad.mit.edu	37	chr7	53104250	53104250	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctgctggcccctttggcTcctaagaatctgggctctgc	11	13	3	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr7:53104250T>C	uc003tpz.2	+	1	902	c.886T>C	c.(886-888)TCC>CCC	p.S296P		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	296											0						CCCCTTTGGCTCCTAAGAATC	0.602													C	53104250	T	C	53104250	3	2	112	1	0	0	0	0	1	0	0	0	12241	1551	54	3	888	3	POM121L12	7	53104250	Missense_Mutation	SNP	T	TCGA-BR-A452-01A-91D-A25D-08		53104250	106034413	53	74257											
MDH2	4191	broad.mit.edu	37	chr7	75687381	75687381	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccggaagccatgatctgCgtcattgccaatccggtgag	12	12	2	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr7:75687381C>T	uc003ueo.2	+	4	500	c.414C>T	c.(412-414)TGC>TGT	p.C138C	MDH2_uc003uep.2_Silent_p.C31C|MDH2_uc011kgh.1_Silent_p.C138C	NM_005918	NP_005909	P40926	MDHM_HUMAN	mitochondrial malate dehydrogenase precursor	138					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity			ovary(1)|central_nervous_system(1)|skin(1)	3					NADH(DB00157)	CCATGATCTGCGTCATTGCCA	0.587													T	75687381	C	T	75687381	2	4	112	1	0	0	0	0	0	0	0	1	9410	776	27	1		1	MDH2	7	75687381	Silent	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	22583131	75687381	83451282	54	74258											
PCLO	27445	broad.mit.edu	37	chr7	82544694	82544694	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tactttcttgaataggtgaaAattttgacattttagggtca	8	4	2	3			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr7:82544694A>C	uc003uhx.2	-	7	12897	c.12608T>G	c.(12607-12609)TTT>TGT	p.F4203C	PCLO_uc003uhv.2_Missense_Mutation_p.F4203C|PCLO_uc010lec.2_Missense_Mutation_p.F1168C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4134					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AATAGGTGAAAATTTTGACAT	0.383													C	82544694	A	C	82544694	3	2	112	1	0	0	0	0	1	0	0	0	11583	14	1	5	2913	5	PCLO	7	82544694	Missense_Mutation	SNP	A	TCGA-BR-A452-01A-91D-A25D-08	6857313	82544694	76593969	55	74259											
COL1A2	1278	broad.mit.edu	37	chr7	94055358	94055358	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gtgctgttggcccaagaggtCctagtgtatgtacatgctga	13	8	0	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr7:94055358C>G	uc003ung.1	+	45	3463	c.2992C>G	c.(2992-2994)CCT>GCT	p.P998A	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	998					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCAAGAGGTCCTAGTGTATG	0.418										HNSCC(75;0.22)			G	94055358	C	G	94055358	3	3	112	1	0	0	0	0	1	0	0	0	3678	855	30	5	3170	5	COL1A2	7	94055358	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	11510664	94055358	65083305	56	74260											
LAMB4	22798	broad.mit.edu	37	chr7	107704215	107704215	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagacttacttctgcaggTctgattgagggctgatccat	11	9	2	4			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr7:107704215T>C	uc010ljo.1	-	22	3136	c.3052A>G	c.(3052-3054)ACC>GCC	p.T1018A	LAMB4_uc003vey.2_Missense_Mutation_p.T1018A|LAMB4_uc010ljp.1_5'UTR	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1018	Laminin EGF-like 10.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						CTTCTGCAGGTCTGATTGAGG	0.517													C	107704215	T	C	107704215	3	2	112	1	0	0	0	0	1	0	0	0	8613	1667	58	3	2285	3	LAMB4	7	107704215	Missense_Mutation	SNP	T	TCGA-BR-A452-01A-91D-A25D-08	13648857	107704215	51434448	57	74261											
PDIA4	9601	broad.mit.edu	37	chr7	148702994	148702994	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtgggggtccctcaccagctCtgtaatcaaagctgaagtcc	11	12	3	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr7:148702994C>G	uc003wff.2	-	8	1565	c.1283G>C	c.(1282-1284)AGA>ACA	p.R428T		NM_004911	NP_004902	P13667	PDIA4_HUMAN	protein disulfide isomerase A4 precursor	428					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			lung(5)|ovary(1)	6	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CTCACCAGCTCTGTAATCAAA	0.607											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	148702994	C	G	148702994	3	3	112	1	0	0	0	0	1	0	0	0	11670	913	32	5	666	5	PDIA4	7	148702994	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	40998779	148702994	10435669	58	74262											
RP1L1	94137	broad.mit.edu	37	chr8	10465067	10465067	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cccttctgcctctggggcctCtacaccttctaactctggtt	7	16	5	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr8:10465067C>G	uc003wtc.2	-	4	6770	c.6541G>C	c.(6541-6543)GAG>CAG	p.E2181Q		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2181					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		TCTGGGGCCTCTACACCTTCT	0.602													G	10465067	C	G	10465067	3	3	112	1	0	0	0	0	1	0	0	0	13533	922	32	5	665	5	RP1L1	8	10465067	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08		10465067	135898955	59	74263											
C8orf34	116328	broad.mit.edu	37	chr8	69552690	69552690	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaaccaaggccgtcctacTtaccctgctgagcctcaggc	8	15	1	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr8:69552690T>G	uc010lyz.2	+	8	976	c.927T>G	c.(925-927)ACT>ACG	p.T309T	C8orf34_uc003xyb.2_Silent_p.T284T	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	309					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GCCGTCCTACTTACCCTGCTG	0.408													G	69552690	T	G	69552690	2	3	112	1	0	0	0	0	0	0	0	1	2422	1596	56	5		5	C8orf34	8	69552690	Silent	SNP	T	TCGA-BR-A452-01A-91D-A25D-08	59087623	69552690	76811332	60	74264											
CNGB3	54714	broad.mit.edu	37	chr8	87588309	87588309	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcattttctttttgtttaTcttcattttcttttccttct	1	9	6	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr8:87588309T>C	uc003ydx.2	-	18	2199	c.2153A>G	c.(2152-2154)GAT>GGT	p.D718G	CNGB3_uc010maj.2_Missense_Mutation_p.D575G	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	718	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						tttttgtttatcttcattttc	0.179													C	87588309	T	C	87588309	3	2	112	1	0	0	0	0	1	0	0	0	3601	1435	50	3	280	3	CNGB3	8	87588309	Missense_Mutation	SNP	T	TCGA-BR-A452-01A-91D-A25D-08	18035619	87588309	58775713	61	74265											
SPAG1	6674	broad.mit.edu	37	chr8	101252666	101252666	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggagcctggaagacctgcAggggaggtctccatgggatg	18	8	1	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr8:101252666A>C	uc003yjh.1	+	18	2402	c.2316A>C	c.(2314-2316)GCA>GCC	p.A772A	SPAG1_uc003yji.1_Silent_p.A772A	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	772					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)		GAAGACCTGCAGGGGAGGTCT	0.483													C	101252666	A	C	101252666	2	2	112	1	0	0	0	0	0	0	0	1	14975	175	7	5		5	SPAG1	8	101252666	Silent	SNP	A	TCGA-BR-A452-01A-91D-A25D-08	13664357	101252666	45111356	62	74266											
TM7SF4	81501	broad.mit.edu	37	chr8	105361304	105361304	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaccctggcagtctctcTtttcagtcccagccatgtcc	7	17	3	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr8:105361304T>C	uc003ylx.1	+	2	573	c.524T>C	c.(523-525)CTT>CCT	p.L175P		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	175					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCAGTCTCTCTTTTCAGTCCC	0.473													C	105361304	T	C	105361304	3	2	112	1	0	0	0	0	1	0	0	0	15973	1609	56	3	526	3	TM7SF4	8	105361304	Missense_Mutation	SNP	T	TCGA-BR-A452-01A-91D-A25D-08	4108638	105361304	41002718	63	74267											
CSMD3	114788	broad.mit.edu	37	chr8	114111124	114111124	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atcagcattgttatggtactCattaggaaaactagggctgg	11	6	2	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr8:114111124C>G	uc003ynu.2	-	5	937	c.778G>C	c.(778-780)GAG>CAG	p.E260Q	CSMD3_uc003ynt.2_Missense_Mutation_p.E220Q|CSMD3_uc011lhx.1_Missense_Mutation_p.E260Q|CSMD3_uc010mcx.1_Missense_Mutation_p.E260Q	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	260	Extracellular (Potential).|CUB 2.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TTATGGTACTCATTAGGAAAA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	114111124	C	G	114111124	3	3	112	1	0	0	0	0	1	0	0	0	3946	835	29	5	10613	5	CSMD3	8	114111124	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	8749820	114111124	32252898	64	74268											
EPPK1	83481	broad.mit.edu	37	chr8	144941839	144941839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgatcgatgaccctggaGttgaacaggtctgcagctgt	12	9	2	3			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr8:144941839G>A	uc003zaa.1	-	1	5596	c.5583C>T	c.(5581-5583)AAC>AAT	p.N1861N		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1861						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGACCCTGGAGTTGAACAGGT	0.547													A	144941839	G	A	144941839	2	1	112	1	0	0	0	0	0	0	0	1	5190	1020	36	4		4	EPPK1	8	144941839	Silent	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	30830715	144941839	1422183	65	74269											
NFKBIL2	4796	broad.mit.edu	37	chr8	145666384	145666384	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctcagctgccctgggaaagtCtcctgccttggagaagaggt	13	11	2	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr8:145666384C>G	uc011llg.1	-	8	991	c.976G>C	c.(976-978)GAC>CAC	p.D326H		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	326	TPR 7.				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTGGGAAAGTCTCCTGCCTTG	0.647													G	145666384	C	G	145666384	3	3	112	1	0	0	0	0	1	0	0	0	10382	913	32	5	3236	5	NFKBIL2	8	145666384	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	724545	145666384	697638	66	74270											
FLJ46321	389763	broad.mit.edu	37	chr9	84609013	84609013	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgttgagccagttaaagTtggtccagaggaagcatagc	13	6	0	3			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr9:84609013T>G	uc004amn.2	+	4	3675	c.3628T>G	c.(3628-3630)TTG>GTG	p.L1210V		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	1210						integral to membrane					0						CCAGTTAAAGTTGGTCCAGAG	0.403													G	84609013	T	G	84609013	3	3	112	1	0	0	0	0	1	0	0	0	5932	1722	60	5	3642	5	FLJ46321	9	84609013	Missense_Mutation	SNP	T	TCGA-BR-A452-01A-91D-A25D-08		84609013	56604418	67	74271											
FKTN	2218	broad.mit.edu	37	chr9	108358939	108358939	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatttgatagcacacagtggGtatgtagaataaacaagaaa	10	4	0	3			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr9:108358939G>A	uc004bcr.2	+	4	381	c.165_splice	c.e4+1	p.W55_splice	FKTN_uc011lvx.1_Splice_Site_p.W55_splice|FKTN_uc004bcs.2_Splice_Site_p.W55_splice|FKTN_uc011lvy.1_Splice_Site_p.W55_splice|FKTN_uc010mtm.2_Splice_Site	NM_001079802	NP_001073270	O75072	FKTN_HUMAN	fukutin						muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(2)|ovary(1)	3						CACACAGTGGGTATGTAGAAT	0.318													A	108358939	G	A	108358939	5	1	112	1	0	0	0	0	0	0	1	0	5919	1275	44	4	172	4	FKTN	9	108358939	Splice_Site	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	23749926	108358939	32854492	68	74272											
C9orf5	23731	broad.mit.edu	37	chr9	111870817	111870817	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcattccacttgaatgaaaCagtcaacacatagccaacca	5	12	1	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr9:111870817C>A	uc004bdt.3	-	2	645	c.613G>T	c.(613-615)GTT>TTT	p.V205F	C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Missense_Mutation_p.V205F	NM_032012	NP_114401	Q9H330	CI005_HUMAN	hypothetical protein LOC23731	205	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1		Myeloproliferative disorder(63;0.204)		OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823)		TTGAATGAAACAGTCAACACA	0.353													A	111870817	C	A	111870817	3	1	112	1	0	0	0	0	1	0	0	0	2486	478	17	5	2094	5	C9orf5	9	111870817	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	3511878	111870817	29342614	69	74273											
ODF2	4957	broad.mit.edu	37	chr9	131262403	131262403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatcgcctggagcagtccGagagcaccaaccgcagcatg	12	13	0	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr9:131262403G>A	uc011mbd.1	+	21	2670	c.2359G>A	c.(2359-2361)GAG>AAG	p.E787K	ODF2_uc004bvb.2_Missense_Mutation_p.E763K|ODF2_uc011mbe.1_Missense_Mutation_p.E782K|ODF2_uc004bvc.2_Missense_Mutation_p.E763K|ODF2_uc004bvd.3_Missense_Mutation_p.E787K|ODF2_uc004bvh.2_Missense_Mutation_p.E193K	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	787	Potential.				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1						GGAGCAGTCCGAGAGCACCAA	0.468													A	131262403	G	A	131262403	3	1	112	1	0	0	0	0	1	0	0	0	10827	1059	37	1	2555	1	ODF2	9	131262403	Missense_Mutation	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	19391586	131262403	9951028	70	74274											
ADAMTSL2	9719	broad.mit.edu	37	chr9	136405731	136405731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaccagatgactatgtcCacatctccagcaaaccgtgt	6	15	1	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr9:136405731C>T	uc011mdl.1	+	6	981	c.424C>T	c.(424-426)CAC>TAC	p.H142Y	ADAMTSL2_uc004cei.2_Missense_Mutation_p.H142Y	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN	ADAMTS-like 2 precursor	142					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		TGACTATGTCCACATCTCCAG	0.582													T	136405731	C	T	136405731	3	4	112	1	0	0	0	0	1	0	0	0	275	594	21	4	442	4	ADAMTSL2	9	136405731	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	5143328	136405731	4807700	71	74275											
ZWINT	11130	broad.mit.edu	37	chr10	58120973	58120973	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttactctagggctgcagcttCcgcctctgtctccgctgcct	9	16	3	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr10:58120973C>A	uc001jjx.1	-	1	62	c.25G>T	c.(25-27)GAA>TAA	p.E9*	ZWINT_uc001jjy.1_Nonsense_Mutation_p.E9*|ZWINT_uc001jka.1_Nonsense_Mutation_p.E9*|ZWINT_uc009xoy.1_RNA	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	9					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						GCTGCAGCTTCCGCCTCTGTC	0.592													A	58120973	C	A	58120973	4	1	112	1	0	0	0	0	0	1	0	0	18246	864	30	5	840	5	ZWINT	10	58120973	Nonsense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08		58120973	77413774	72	74276											
PNLIPRP3	119548	broad.mit.edu	37	chr10	118236283	118236283	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttgaagattctcagaataAgttgggagcagaaatggtga	13	3	1	5			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr10:118236283A>C	uc001lcl.3	+	11	1393	c.1292A>C	c.(1291-1293)AAG>ACG	p.K431T		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	431	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)		TCTCAGAATAAGTTGGGAGCA	0.303													C	118236283	A	C	118236283	3	2	112	1	0	0	0	0	1	0	0	0	12152	72	3	5	1334	5	PNLIPRP3	10	118236283	Missense_Mutation	SNP	A	TCGA-BR-A452-01A-91D-A25D-08	60115310	118236283	17298464	73	74277											
OR51A7	119687	broad.mit.edu	37	chr11	4928970	4928970	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgtctttggaccgctttcTtgccattcacaatcccttaa	5	12	3	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr11:4928970T>G	uc010qyq.1	+	1	371	c.371T>G	c.(370-372)CTT>CGT	p.L124R		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACCGCTTTCTTGCCATTCAC	0.393													G	4928970	T	G	4928970	3	3	112	1	0	0	0	0	1	0	0	0	11088	1609	56	5	373	5	OR51A7	11	4928970	Missense_Mutation	SNP	T	TCGA-BR-A452-01A-91D-A25D-08		4928970	130077546	74	74278											
ZNF214	7761	broad.mit.edu	37	chr11	7022511	7022511	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggactgccaaggcataaaatTtttatattttaagttcctga	7	6	0	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr11:7022511T>G	uc001mfa.2	-	3	706	c.403A>C	c.(403-405)AAT>CAT	p.N135H	ZNF214_uc010ray.1_Missense_Mutation_p.N135H|ZNF214_uc009yfh.1_Missense_Mutation_p.N135H	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GGCATAAAATTTTTATATTTT	0.398													G	7022511	T	G	7022511	3	3	112	1	0	0	0	0	1	0	0	0	17767	1841	64	5	1421	5	ZNF214	11	7022511	Missense_Mutation	SNP	T	TCGA-BR-A452-01A-91D-A25D-08	2093541	7022511	127984005	75	74279											
NELL1	4745	broad.mit.edu	37	chr11	20907013	20907013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgagcgtgtgatagaccCtccagataccaaccttcccc	7	14	0	4			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr11:20907013C>T	uc001mqe.2	+	5	683	c.530C>T	c.(529-531)CCT>CTT	p.P177L	NELL1_uc001mqf.2_Missense_Mutation_p.P177L|NELL1_uc009yid.2_Missense_Mutation_p.P205L|NELL1_uc010rdo.1_Missense_Mutation_p.P120L|NELL1_uc010rdp.1_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	177	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						GTGATAGACCCTCCAGATACC	0.413													T	20907013	C	T	20907013	3	4	112	1	0	0	0	0	1	0	0	0	10333	681	24	4	548	4	NELL1	11	20907013	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	13884502	20907013	114099503	76	74280											
BDNF	627	broad.mit.edu	37	chr11	27680025	27680025	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgggtaggccaagccaccTtgtcctcggatgtttgcttc	11	13	0	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr11:27680025T>G	uc010rdu.1	-	2	938	c.87A>C	c.(85-87)CAA>CAC	p.Q29H	BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_RNA|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_RNA|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_RNA|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_RNA|BDNFOS_uc009yip.2_RNA|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_RNA|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_RNA|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_RNA|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_RNA|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_RNA|BDNFOS_uc009yiz.2_RNA|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_RNA|BDNF_uc010rdv.1_Missense_Mutation_p.Q29H|BDNF_uc001mrt.2_Missense_Mutation_p.Q44H|BDNF_uc010rdw.1_Missense_Mutation_p.Q29H|BDNF_uc009yjd.2_Missense_Mutation_p.Q29H|BDNF_uc001mru.2_Missense_Mutation_p.Q29H|BDNF_uc010rdx.1_Missense_Mutation_p.Q29H|BDNF_uc010rdy.1_Missense_Mutation_p.Q29H|BDNF_uc009yjg.2_Missense_Mutation_p.Q29H|BDNF_uc009yje.2_Missense_Mutation_p.Q111H|BDNF_uc009yjf.2_Missense_Mutation_p.Q58H|BDNF_uc001mrv.2_Missense_Mutation_p.Q29H|BDNF_uc001mrw.3_Missense_Mutation_p.Q29H|BDNF_uc001mrx.2_Missense_Mutation_p.Q29H|BDNF_uc001mry.3_Missense_Mutation_p.Q29H|BDNF_uc001mrz.3_Missense_Mutation_p.Q29H|BDNF_uc001msa.2_Missense_Mutation_p.Q37H	NM_001143816	NP_001137288	P23560	BDNF_HUMAN	brain-derived neurotrophic factor isoform a	29						extracellular region	growth factor activity				0						CCAAGCCACCTTGTCCTCGGA	0.512													G	27680025	T	G	27680025	3	3	112	1	0	0	0	0	1	0	0	0	1394	1606	56	5	660	5	BDNF	11	27680025	Missense_Mutation	SNP	T	TCGA-BR-A452-01A-91D-A25D-08	6773012	27680025	107326491	77	74281											
OR5M3	219482	broad.mit.edu	37	chr11	56237885	56237885	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgatgatgtagaccacaAgaaagatgatgaagaagaga	13	3	0	9			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr11:56237885A>G	uc010rjk.1	-	1	89	c.89T>C	c.(88-90)CTT>CCT	p.L30P		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GTAGACCACAAGAAAGATGAT	0.438													G	56237885	A	G	56237885	3	3	112	1	0	0	0	0	1	0	0	0	11175	72	3	3	836	3	OR5M3	11	56237885	Missense_Mutation	SNP	A	TCGA-BR-A452-01A-91D-A25D-08	28557860	56237885	78768631	78	74282											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57068505	57068505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgagcgattccgggggCgcagcttggcctgagaagca	16	11	0	2	rs144895600	byFrequency	TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr11:57068505C>T	uc001njr.2	-	9	5294	c.4982G>A	c.(4981-4983)CGC>CAC	p.R1661H	TNKS1BP1_uc001njp.2_Missense_Mutation_p.R233H|TNKS1BP1_uc001njq.2_Missense_Mutation_p.R234H|TNKS1BP1_uc001njs.2_Missense_Mutation_p.R1661H	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1661	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				ATTCCGGGGGCGCAGCTTGGC	0.577													T	57068505	C	T	57068505	3	4	112	1	0	0	0	0	1	0	0	0	16317	768	27	1	215	1	TNKS1BP1	11	57068505	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	830620	57068505	77938011	79	74283											
PELI3	246330	broad.mit.edu	37	chr11	66236332	66236332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaaggaggtgaggaaaccGaggctcagagaggggaagtg	20	4	1	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr11:66236332G>A	uc001oic.3	+	3	345	c.181G>A	c.(181-183)GAG>AAG	p.E61K	PELI3_uc001oib.2_Missense_Mutation_p.E61K|PELI3_uc001oid.3_Intron|PELI3_uc001oie.3_Intron	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN	pellino 3 alpha isoform 1	61						cytosol	protein binding			ovary(1)	1						tgaggaaaccgaggctcagag	0													A	66236332	G	A	66236332	3	1	112	1	0	0	0	0	1	0	0	0	11723	1059	37	1	187	1	PELI3	11	66236332	Missense_Mutation	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	9167827	66236332	68770184	80	74284											
C11orf51	25906	broad.mit.edu	37	chr11	71820961	71820961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcctgatcctgttcgttgCcttccatgtccacctggaga	10	13	0	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr11:71820961C>T	uc001orw.2	-	6	554	c.332G>A	c.(331-333)GGC>GAC	p.G111D	LRTOMT_uc010rqv.1_3'UTR|LRTOMT_uc010rqw.1_3'UTR|LRTOMT_uc001ors.3_3'UTR|C11orf51_uc009ytc.1_Intron|C11orf51_uc001orv.2_Missense_Mutation_p.G115D	NM_014042	NP_054761	P60006	CK051_HUMAN	hypothetical protein LOC25906	111	Asp-rich.					intracellular					0						CTGTTCGTTGCCTTCCATGTC	0.622													T	71820961	C	T	71820961	3	4	112	1	0	0	0	0	1	0	0	0	1646	739	26	2	37	2	C11orf51	11	71820961	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	5584629	71820961	63185555	81	74285											
C2CD3	26005	broad.mit.edu	37	chr11	73829385	73829385	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttttagaagggacgatatCatcctcttcactgaggaaat	8	7	3	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr11:73829385C>T	uc001ouu.2	-	9	1635	c.1408G>A	c.(1408-1410)GAT>AAT	p.D470N	C2CD3_uc001ouv.2_Missense_Mutation_p.D470N	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	470						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					GGGACGATATCATCCTCTTCA	0.428													T	73829385	C	T	73829385	3	4	112	1	0	0	0	0	1	0	0	0	2154	826	29	4	4575	4	C2CD3	11	73829385	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	2008424	73829385	61177131	82	74286											
FAT3	120114	broad.mit.edu	37	chr11	92086977	92086977	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaggtcaatgtgactattCgaataggaaatgtcaacgac	11	6	2	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr11:92086977C>T	uc001pdj.3	+	1	1716	c.1699C>T	c.(1699-1701)CGA>TGA	p.R567*		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	567	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTGACTATTCGAATAGGAAA	0.438										TCGA Ovarian(4;0.039)			T	92086977	C	T	92086977	4	4	112	1	0	0	0	0	0	1	0	0	5691	876	31	1	1701	1	FAT3	11	92086977	Nonsense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	18257592	92086977	42919539	83	74287											
GNB3	2784	broad.mit.edu	37	chr12	6953130	6953130	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actggccacgagtcggacatCaacgccatctgtgtgagtgc	12	12	2	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr12:6953130C>G	uc001qrd.2	+	9	1092	c.687C>G	c.(685-687)ATC>ATG	p.I229M	GNB3_uc001qrc.2_Missense_Mutation_p.I185M|GNB3_uc009zfe.2_Missense_Mutation_p.I228M	NM_002075	NP_002066	P16520	GBB3_HUMAN	guanine nucleotide-binding protein, beta-3	229	WD 5.				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity				0						AGTCGGACATCAACGCCATCT	0.582													G	6953130	C	G	6953130	3	3	112	1	0	0	0	0	1	0	0	0	6519	816	29	5	713	5	GNB3	12	6953130	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08		6953130	126898765	84	74288											
PZP	5858	broad.mit.edu	37	chr12	9315222	9315222	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtcatagaactgaaagtcTtttcttgctcaataccttca	6	9	5	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr12:9315222T>G	uc001qvl.2	-	22	2788	c.2759A>C	c.(2758-2760)AAG>ACG	p.K920T	PZP_uc009zgl.2_Missense_Mutation_p.K706T|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Intron	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						ACTGAAAGTCTTTTCTTGCTC	0.393													G	9315222	T	G	9315222	3	3	112	1	0	0	0	0	1	0	0	0	12869	1609	56	5	1749	5	PZP	12	9315222	Missense_Mutation	SNP	T	TCGA-BR-A452-01A-91D-A25D-08	2362092	9315222	124536673	85	74289											
SLC2A13	114134	broad.mit.edu	37	chr12	40223997	40223997	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcttgtagcagaaaccGcagtctggatccaacataca	7	11	3	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr12:40223997G>A	uc010skm.1	-	7	1404	c.1353C>T	c.(1351-1353)TGC>TGT	p.C451C	C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Silent_p.C98C	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose	451	Extracellular (Potential).					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)				AGCAGAAACCGCAGTCTGGAT	0.423										HNSCC(50;0.14)			A	40223997	G	A	40223997	2	1	112	1	0	0	0	0	0	0	0	1	14542	1079	38	1		1	SLC2A13	12	40223997	Silent	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	30908775	40223997	93627898	86	74290											
LIN7A	8825	broad.mit.edu	37	chr12	81242079	81242079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagccattaacagttatcGtttcatgcatatattgatac	6	8	1	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr12:81242079G>A	uc001szj.1	-	3	417	c.224C>T	c.(223-225)ACG>ATG	p.T75M	LIN7A_uc001szk.1_RNA	NM_004664	NP_004655	O14910	LIN7A_HUMAN	lin-7 homolog A	75	L27.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			ovary(1)|skin(1)	2						AACAGTTATCGTTTCATGCAT	0.323													A	81242079	G	A	81242079	3	1	112	1	0	0	0	0	1	0	0	0	8810	1145	40	1	489	1	LIN7A	12	81242079	Missense_Mutation	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	41018082	81242079	52609816	87	74291											
CEP290	80184	broad.mit.edu	37	chr12	88500843	88500843	+	Frame_Shift_Del	DEL	G	G	-													ttctcttttcctcttttattGttttagattctgttttccag							TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr12:88500843delG	uc001tar.2	-	24	2860	c.2516delC	c.(2515-2517)ACAfs	p.T839fs	CEP290_uc001taq.2_5'Flank|CEP290_uc001tat.2_Frame_Shift_Del_p.T632fs	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	839	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						CTCTTTTATTGTTTTAGATTC	0.259													-	88500843	G	-	88500843	7	5	112	1	0	1	0	1	0	0	0	0	3253	1377	48	0	5047	0	CEP290	12	88500843	Frame_Shift_Del	DEL	G	TCGA-BR-A452-01A-91D-A25D-08	7258764	88500843	45351052	88	74292											
SBNO1	55206	broad.mit.edu	37	chr12	123810084	123810084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatcattcaattctcccccGccctcttccaaagcttctaa	2	16	5	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr12:123810084G>A	uc010tap.1	-	14	1938	c.1938C>T	c.(1936-1938)GGC>GGT	p.G646G	SBNO1_uc010tao.1_Silent_p.G645G|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Silent_p.G646G|SBNO1_uc001ueu.2_Silent_p.G645G|SBNO1_uc001uev.2_Silent_p.G644G|SBNO1_uc009zxy.1_Silent_p.G611G	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	646							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATTCTCCCCCGCCCTCTTCCA	0.338													A	123810084	G	A	123810084	2	1	112	1	0	0	0	0	0	0	0	1	13862	1074	38	1		1	SBNO1	12	123810084	Silent	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	35309241	123810084	10041811	89	74293											
DHX37	57647	broad.mit.edu	37	chr12	125473527	125473527	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagggtccggggcccgcctgCtggcgccccttgatgttgta	16	13	0	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr12:125473527C>G	uc001ugy.2	-	1	141	c.42G>C	c.(40-42)CAG>CAC	p.Q14H		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	14							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGCCCGCCTGCTGGCGCCCCT	0.706													G	125473527	C	G	125473527	3	3	112	1	0	0	0	0	1	0	0	0	4510	796	28	5	3539	5	DHX37	12	125473527	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	1663443	125473527	8378368	90	74294											
RB1	5925	broad.mit.edu	37	chr13	48937043	48937046	+	Frame_Shift_Del	DEL	ACAA	ACAA	-													caaaacaactagaaaatgatAcaagaattattgaagttctc							TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr13:48937043_48937046delACAA	uc001vcb.2	+	8	977_980	c.811_814delACAA	c.(811-816)ACAAGAfs	p.T271fs	RB1_uc010acs.1_RNA|RB1_uc010act.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	271_272					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(5)|p.L267fs*3(1)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGAAAATGATACAAGAATTATTGA	0.338		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			-	48937046	ACAA	-	48937043	7	5	112	1	0	1	0	1	0	0	0	0	13098	391	14	0	841	0	RB1	13	48937043	Frame_Shift_Del	DEL	ACAA	TCGA-BR-A452-01A-91D-A25D-08		48937043	66232835	91	74295											
MIA2	117153	broad.mit.edu	37	chr14	39716682	39716682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catctgagtcagagcacattCccaaacctcaatccactggt	6	14	3	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr14:39716682C>T	uc001wux.2	+	4	1098	c.904C>T	c.(904-906)CCC>TCC	p.P302S	MIA2_uc010amy.1_Missense_Mutation_p.P233S	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	302						extracellular region				ovary(1)|breast(1)	2	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		AGAGCACATTCCCAAACCTCA	0.408													T	39716682	C	T	39716682	3	4	112	1	0	0	0	0	1	0	0	0	9564	855	30	4	918	4	MIA2	14	39716682	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08		39716682	67632858	92	74296											
CASC5	57082	broad.mit.edu	37	chr15	40914809	40914809	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttctgaactacaagaacttGgtaaaactaatttagaacac	5	8	1	3			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr15:40914809G>C	uc010bbs.1	+	11	2586	c.2425G>C	c.(2425-2427)GGT>CGT	p.G809R	CASC5_uc010ucq.1_Missense_Mutation_p.G633R|CASC5_uc001zme.2_Missense_Mutation_p.G783R|CASC5_uc010bbt.1_Missense_Mutation_p.G783R	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	809					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ACAAGAACTTGGTAAAACTAA	0.363													C	40914809	G	C	40914809	3	2	112	1	0	0	0	0	1	0	0	0	2663	1348	47	5	2463	5	CASC5	15	40914809	Missense_Mutation	SNP	G	TCGA-BR-A452-01A-91D-A25D-08		40914809	61616583	93	74297											
C15orf27	123591	broad.mit.edu	37	chr15	76467994	76467994	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagctggagaggctgacGcagatctgtcaggagcaagg	17	8	2	3			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr15:76467994G>A	uc002bbq.2	+	8	902	c.747G>A	c.(745-747)ACG>ACA	p.T249T	C15orf27_uc010bkp.2_Silent_p.T65T|C15orf27_uc002bbr.2_Silent_p.T65T	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	hypothetical protein LOC123591	249	Potential.					integral to membrane					0						AGAGGCTGACGCAGATCTGTC	0.512													A	76467994	G	A	76467994	2	1	112	1	0	0	0	0	0	0	0	1	1788	1074	38	1		1	C15orf27	15	76467994	Silent	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	35553185	76467994	26063398	94	74298											
WDR93	56964	broad.mit.edu	37	chr15	90258251	90258251	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtgtataaattgcccaaGgagacttggctcaagaaact	10	7	1	2	rs143108236		TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr15:90258251G>A	uc002boj.2	+	6	782	c.681G>A	c.(679-681)AAG>AAA	p.K227K	WDR93_uc010bnr.2_Silent_p.K227K	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	227					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			ovary(2)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AATTGCCCAAGGAGACTTGGC	0.458													A	90258251	G	A	90258251	2	1	112	1	0	0	0	0	0	0	0	1	17337	991	35	4		4	WDR93	15	90258251	Silent	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	13790257	90258251	12273141	95	74299											
LUC7L	55692	broad.mit.edu	37	chr16	239282	239282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctccagtccgggggccctCgctcgctccgcccgctctcc	11	22	1	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr16:239282C>T	uc002cgc.1	-	10	1142	c.1031G>A	c.(1030-1032)CGA>CAA	p.R344Q	LUC7L_uc002cga.1_3'UTR|LUC7L_uc002cgd.1_RNA|LUC7L_uc002cge.1_3'UTR|LUC7L_uc002cgb.1_Missense_Mutation_p.R258Q	NM_201412	NP_958815	Q9NQ29	LUC7L_HUMAN	LUC7-like isoform b	344	Arg/Ser-rich.						metal ion binding			central_nervous_system(1)	1		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CGGGGGCCCTCGCTCGCTCCG	0.657													T	239282	C	T	239282	3	4	112	1	0	0	0	0	1	0	0	0	9082	884	31	1	88	1	LUC7L	16	239282	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08		239282	90115471	96	74300											
DNAH3	55567	broad.mit.edu	37	chr16	20998758	20998759	+	Frame_Shift_Ins	INS	-	-	T													tggatccaaagccggatacaINStttttctacatcctaaaaat							TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr16:20998758_20998759insT	uc010vbe.1	-	47	6894_6895	c.6894_6895insA	c.(6892-6897)AAATGTfs	p.K2298fs	DNAH3_uc010vbd.1_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2298_2299					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AGCCGGATACATTTTTCTACAT	0.366													T	20998759	-	T	20998758	7	5	112	1	0	1	1	0	0	0	0	0	4603	217	8	0	5518	0	DNAH3	16	20998758	Frame_Shift_Ins	INS	-	TCGA-BR-A452-01A-91D-A25D-08	20759476	20998758	69355995	97	74301	333	2									
DNAH3	55567	broad.mit.edu	37	chr16	20998759	20998760	+	Frame_Shift_Ins	INS	-	-	T													ggatccaaagccggatacatINSttttctacatcctaaaaatc							TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr16:20998758_20998759A>AT	uc010vbe.2	-	46	6894_6895	c.6894_6895T>AT	c.(6892-6897)aaatgtfs	p.K2298fs	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2298					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGCCGGATACATTTTTCTACAT	0.426													T	20998760	-	T	20998759	7	5	112	1	0	1	1	0	0	0	0	0	4603	1490	52	0	5519	0	DNAH3	16	20998759	Frame_Shift_Ins	INS	-	TCGA-BR-A452-01A-91D-A25D-08	1	20998759	69355994	98	74302	333	2									
RNF40	9810	broad.mit.edu	37	chr16	30779227	30779227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccagggcccatcaaccGtgagatgcgccacctgatta	9	15	1	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr16:30779227G>A	uc002dzq.2	+	12	1565	c.1442G>A	c.(1441-1443)CGT>CAT	p.R481H	RNF40_uc010caa.2_Missense_Mutation_p.R481H|RNF40_uc010cab.2_Missense_Mutation_p.R381H|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.R481H|RNF40_uc010vfb.1_Missense_Mutation_p.R173H|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	481	Potential.				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)			CCCATCAACCGTGAGATGCGC	0.532													A	30779227	G	A	30779227	3	1	112	1	0	0	0	0	1	0	0	0	13493	1145	40	1	1484	1	RNF40	16	30779227	Missense_Mutation	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	9780468	30779227	59575526	99	74303											
GPR56	9289	broad.mit.edu	37	chr16	57685210	57685210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaacccacaccagacctgCgcatctccatcgagaactcc	5	18	1	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr16:57685210C>T	uc002emb.2	+	4	455	c.163C>T	c.(163-165)CGC>TGC	p.R55C	GPR56_uc002elz.1_Intron|GPR56_uc002ema.1_5'UTR|GPR56_uc002emc.2_Missense_Mutation_p.R55C|GPR56_uc002emf.2_Missense_Mutation_p.R55C|GPR56_uc010vhs.1_Missense_Mutation_p.R55C|GPR56_uc002emd.2_Missense_Mutation_p.R55C|GPR56_uc002eme.2_Missense_Mutation_p.R55C|GPR56_uc010vht.1_Missense_Mutation_p.R60C|GPR56_uc002emg.3_Missense_Mutation_p.R55C|GPR56_uc010vhu.1_5'UTR	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	55	Extracellular (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						ACCAGACCTGCGCATCTCCAT	0.627													T	57685210	C	T	57685210	3	4	112	1	0	0	0	0	1	0	0	0	6700	768	27	1	184	1	GPR56	16	57685210	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	26905983	57685210	32669543	100	74304											
TP53	7157	broad.mit.edu	37	chr17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagcgctcatggtgggggCagcgcctcacaacctccgtc	13	15	2	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr17:7578403C>A	uc002gim.2	-	5	721	c.527G>T	c.(526-528)TGC>TTC	p.C176F	TP53_uc002gig.1_Missense_Mutation_p.C176F|TP53_uc002gih.2_Missense_Mutation_p.C176F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44F|TP53_uc010cng.1_Missense_Mutation_p.C44F|TP53_uc002gii.1_Missense_Mutation_p.C44F|TP53_uc010cnh.1_Missense_Mutation_p.C176F|TP53_uc010cni.1_Missense_Mutation_p.C176F|TP53_uc002gij.2_Missense_Mutation_p.C176F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83F|TP53_uc002gio.2_Missense_Mutation_p.C44F|TP53_uc010vug.1_Missense_Mutation_p.C137F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	176	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176F(102)|p.C176Y(56)|p.C176S(19)|p.C176W(11)|p.C176R(8)|p.C176fs*71(7)|p.0?(7)|p.C176*(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176G(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.C83Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C176fs*6(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGTGGGGGCAGCGCCTCAC	0.652		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7578403	C	A	7578403	3	1	112	1	0	0	0	0	1	0	0	0	16378	710	25	5	771	5	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08		7578403	73616807	101	74305											
GAS2L2	246176	broad.mit.edu	37	chr17	34072128	34072128	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacataggccagtggcctGgggattcgtgaaggctgctt	15	8	0	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr17:34072128G>A	uc002hjv.1	-	6	2416	c.2388C>T	c.(2386-2388)CCC>CCT	p.P796P		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	796					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCAGTGGCCTGGGGATTCGTG	0.642													A	34072128	G	A	34072128	2	1	112	1	0	0	0	0	0	0	0	1	6247	1335	47	4		4	GAS2L2	17	34072128	Silent	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	26493725	34072128	47123082	102	74306											
KRTAP9-8	83901	broad.mit.edu	37	chr17	39394378	39394378	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggaagcccaccactgtgacCacctgcagcagcacaccctg	9	17	0	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr17:39394378C>G	uc002hwh.3	+	1	109	c.75C>G	c.(73-75)ACC>ACG	p.T25T	KRTAP9-9_uc010wfq.1_Intron	NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9.8	25	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				ovary(1)	1		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCACTGTGACCACCTGCAGCA	0.622													G	39394378	C	G	39394378	2	3	112	1	0	0	0	0	0	0	0	1	8576	581	21	5		5	KRTAP9-8	17	39394378	Silent	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	5322250	39394378	41800832	103	74307											
STAP2	55620	broad.mit.edu	37	chr19	4325405	4325405	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccacccaccatcttggttctCatagtcaacagctgggccat	7	15	3	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr19:4325405C>A	uc002mab.2	-	10	1064	c.967G>T	c.(967-969)GAG>TAG	p.E323*	STAP2_uc002mac.2_Nonsense_Mutation_p.E323*|STAP2_uc002mad.2_Nonsense_Mutation_p.E216*	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	323	Pro-rich.					cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTGGTTCTCATAGTCAACA	0.562													A	4325405	C	A	4325405	4	1	112	1	0	0	0	0	0	1	0	0	15252	835	29	5	398	5	STAP2	19	4325405	Nonsense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08		4325405	54803578	104	74308											
UHRF1	29128	broad.mit.edu	37	chr19	4947120	4947120	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttcttgtctgtttcaggacCatgggaattttttcacatac	7	9	4	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr19:4947120C>G	uc002mbo.2	+	11	1582	c.1414C>G	c.(1414-1416)CAT>GAT	p.H472D	UHRF1_uc010xik.1_RNA|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.H485D	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	472	YDG.|Methyl-CpG binding and interaction with HDAC1.				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GTTTCAGGACCATGGGAATTT	0.433													G	4947120	C	G	4947120	3	3	112	1	0	0	0	0	1	0	0	0	16964	594	21	5	1491	5	UHRF1	19	4947120	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	621715	4947120	54181863	105	74309											
ZNF358	140467	broad.mit.edu	37	chr19	7585158	7585158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctgcgcatccacacgggcGagcggccctacgcctgcccg	12	19	0	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr19:7585158G>A	uc002mgn.2	+	2	1200	c.1030G>A	c.(1030-1032)GAG>AAG	p.E344K	MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	344					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						CCACACGGGCGAGCGGCCCTA	0.692													A	7585158	G	A	7585158	3	1	112	1	0	0	0	0	1	0	0	0	17864	1059	37	1	1032	1	ZNF358	19	7585158	Missense_Mutation	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	2638038	7585158	51543825	106	74310											
GTPBP3	84705	broad.mit.edu	37	chr19	17450362	17450362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacggctgggttgcgggagGgcgtggggcccgtggagcag	22	9	0	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr19:17450362G>A	uc010eas.2	+	7	993	c.928G>A	c.(928-930)GGC>AGC	p.G310S	GTPBP3_uc010xpo.1_Missense_Mutation_p.G332S|GTPBP3_uc010ear.1_RNA|GTPBP3_uc002ngh.3_Missense_Mutation_p.G310S|GTPBP3_uc002ngg.3_Missense_Mutation_p.G342S|GTPBP3_uc002ngi.3_5'UTR	NM_032620	NP_116009	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial) isoform V	310					tRNA modification	mitochondrion	GTP binding|GTPase activity			skin(1)	1						GTTGCGGGAGGGCGTGGGGCC	0.716													A	17450362	G	A	17450362	3	1	112	1	0	0	0	0	1	0	0	0	6881	1232	43	4	1046	4	GTPBP3	19	17450362	Missense_Mutation	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	9865204	17450362	41678621	107	74311											
ZNF429	353088	broad.mit.edu	37	chr19	21719186	21719186	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaacgtggacatgagaacTtacaattaagaaaaggctat	8	5	0	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr19:21719186T>G	uc002nqd.1	+	4	468	c.331T>G	c.(331-333)TTA>GTA	p.L111V	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						ACATGAGAACTTACAATTAAG	0.358													G	21719186	T	G	21719186	3	3	112	1	0	0	0	0	1	0	0	0	17899	1606	56	5	345	5	ZNF429	19	21719186	Missense_Mutation	SNP	T	TCGA-BR-A452-01A-91D-A25D-08	4268824	21719186	37409797	108	74312											
ZNF429	353088	broad.mit.edu	37	chr19	21719297	21719298	+	Frame_Shift_Ins	INS	-	-	TA													gagcaaaatgtatcactgtgINSatatatatgtaaaagtcttt							TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr19:21719296_21719297T>TTA	uc002nqd.1	+	3	578_579	c.441_442T>TTA	c.(439-444)tgtgatfs	p.C147fs	ZNF429_uc010ecu.2_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TGTATCACTGTGATATATATGT	0.332													TA	21719298	-	TA	21719297	7	5	112	1	0	1	1	0	0	0	0	0	17899	1290	45	0	456	0	ZNF429	19	21719297	Frame_Shift_Ins	INS	-	TCGA-BR-A452-01A-91D-A25D-08	111	21719297	37409686	109	74313											
PPP5C	5536	broad.mit.edu	37	chr19	46857240	46857240	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggccgcgctgcgagactaCgagacggtgagctggggagt	19	10	0	3			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr19:46857240C>T	uc002pem.2	+	2	417	c.357C>T	c.(355-357)TAC>TAT	p.Y119Y	PPP5C_uc010xya.1_Translation_Start_Site|PPP5C_uc002pen.2_Silent_p.Y119Y	NM_006247	NP_006238	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	119	TPR 3.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			lung(1)|pancreas(1)	2		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TGCGAGACTACGAGACGGTGA	0.647													T	46857240	C	T	46857240	2	4	112	1	0	0	0	0	0	0	0	1	12406	547	19	1		1	PPP5C	19	46857240	Silent	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	25137943	46857240	12271743	110	74314											
SYNGR4	23546	broad.mit.edu	37	chr19	48878949	48878949	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgccgcccaaagagttcctCctggggagcagcagtgccca	12	15	0	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr19:48878949C>T	uc002piz.2	+	4	656	c.411C>T	c.(409-411)CTC>CTT	p.L137L		NM_012451	NP_036583	O95473	SNG4_HUMAN	synaptogyrin 4	137	MARVEL.					integral to membrane					0		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		AAGAGTTCCTCCTGGGGAGCA	0.602													T	48878949	C	T	48878949	2	4	112	1	0	0	0	0	0	0	0	1	15448	842	30	4		4	SYNGR4	19	48878949	Silent	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	2021709	48878949	10250034	111	74315											
SYNGR4	23546	broad.mit.edu	37	chr19	48879451	48879451	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaccaccctccccttgccctCtgccaacagccctgtgaaca	6	20	1	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr19:48879451C>T	uc002piz.2	+	5	826	c.581C>T	c.(580-582)TCT>TTT	p.S194F		NM_012451	NP_036583	O95473	SNG4_HUMAN	synaptogyrin 4	194						integral to membrane					0		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CCCTTGCCCTCTGCCAACAGC	0.617													T	48879451	C	T	48879451	3	4	112	1	0	0	0	0	1	0	0	0	15448	913	32	4	595	4	SYNGR4	19	48879451	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	502	48879451	10249532	112	74316											
LMTK3	114783	broad.mit.edu	37	chr19	49001788	49001788	+	Frame_Shift_Del	DEL	C	C	-													aaggtcggcttctcccggggCcccgggagtgggagcggacc							TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr19:49001788delC	uc002pjk.2	-	12	2625	c.2625delG	c.(2623-2625)GGGfs	p.G875fs		NM_001080434	NP_001073903			lemur tyrosine kinase 3											lung(5)|central_nervous_system(1)	6		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TCTCCCGGGGCCCCGGGAGTG	0.716													-	49001788	C	-	49001788	7	5	112	1	0	1	0	1	0	0	0	0	8860	726	26	0	1864	0	LMTK3	19	49001788	Frame_Shift_Del	DEL	C	TCGA-BR-A452-01A-91D-A25D-08	122337	49001788	10127195	113	74317											
SNRNP70	6625	broad.mit.edu	37	chr19	49589818	49589818	+	Frame_Shift_Del	DEL	G	G	-													ccgtacattcgagagtttgaGgtgagttcactgagcaggcc							TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr19:49589818delG	uc002pmk.2	+	2	586	c.147delG	c.(145-147)GAGfs	p.E49fs	SNRNP70_uc002pmh.1_RNA|SNRNP70_uc002pmi.1_Frame_Shift_Del_p.E49fs|SNRNP70_uc002pml.2_5'UTR|SNRNP70_uc002pmm.2_RNA	NM_003089	NP_003080	P08621	RU17_HUMAN	U1 small nuclear ribonucleoprotein 70 kDa	49					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0						GAGAGTTTGAGGTGAGTTCAc	0.264													-	49589818	G	-	49589818	7	5	112	1	0	1	0	1	0	0	0	0	14858	1014	35	0	149	0	SNRNP70	19	49589818	Frame_Shift_Del	DEL	G	TCGA-BR-A452-01A-91D-A25D-08	588030	49589818	9539165	114	74318											
SGK2	10110	broad.mit.edu	37	chr20	42199271	42199271	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagctcttcttccacctGcagcgggagcgccggttcct	10	17	2	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr20:42199271G>A	uc002xkv.2	+	6	774	c.555G>A	c.(553-555)CTG>CTA	p.L185L	SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Silent_p.L125L|SGK2_uc010ggm.2_Silent_p.L125L|SGK2_uc002xks.2_Silent_p.L124L|SGK2_uc002xku.2_Silent_p.L125L	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2 isoform	185	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	6		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCTTCCACCTGCAGCGGGAGC	0.642													A	42199271	G	A	42199271	2	1	112	1	0	0	0	0	0	0	0	1	14209	1306	46	2		2	SGK2	20	42199271	Silent	SNP	G	TCGA-BR-A452-01A-91D-A25D-08		42199271	20826249	115	74319											
CSE1L	1434	broad.mit.edu	37	chr20	47712900	47712900	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgtaggttccatcaatggtGagcaccagcctgaatgcaga	11	9	1	3			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr20:47712900G>A	uc002xty.2	+	25	2975	c.2841G>A	c.(2839-2841)GTG>GTA	p.V947V	CSE1L_uc010zyg.1_Silent_p.V730V|CSE1L_uc010ghx.2_Silent_p.V891V|CSE1L_uc010ghy.2_Silent_p.V568V|CSE1L_uc010zyh.1_3'UTR	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	947					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CATCAATGGTGAGCACCAGCC	0.502													A	47712900	G	A	47712900	2	1	112	1	0	0	0	0	0	0	0	1	3930	1277	45	4		4	CSE1L	20	47712900	Silent	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	5513629	47712900	15312620	116	74320											
NCAM2	4685	broad.mit.edu	37	chr21	22696742	22696742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcagaaatcttttaatgCcacagcagagagaggagaag	11	8	2	4			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr21:22696742C>T	uc002yld.1	+	6	908	c.659C>T	c.(658-660)GCC>GTC	p.A220V	NCAM2_uc011acb.1_Missense_Mutation_p.A78V|NCAM2_uc011acc.1_Missense_Mutation_p.A245V	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	220	Ig-like C2-type 3.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TCTTTTAATGCCACAGCAGAG	0.483													T	22696742	C	T	22696742	3	4	112	1	0	0	0	0	1	0	0	0	10203	739	26	2	681	2	NCAM2	21	22696742	Missense_Mutation	SNP	C	TCGA-BR-A452-01A-91D-A25D-08		22696742	25433153	117	74321											
TIAM1	7074	broad.mit.edu	37	chr21	32624209	32624209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggatgtccgactggccCggagagctcagggtgccgct	16	12	1	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr21:32624209C>T	uc002yow.1	-	6	1732	c.1260G>A	c.(1258-1260)CCG>CCA	p.P420P	TIAM1_uc011adk.1_Silent_p.P420P|TIAM1_uc011adl.1_Silent_p.P420P|TIAM1_uc002yox.1_Silent_p.P28P	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	420					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CCGACTGGCCCGGAGAGCTCA	0.672													T	32624209	C	T	32624209	2	4	112	1	0	0	0	0	0	0	0	1	15887	639	23	1		1	TIAM1	21	32624209	Silent	SNP	C	TCGA-BR-A452-01A-91D-A25D-08	9927467	32624209	15505686	118	74322											
BRWD1	54014	broad.mit.edu	37	chr21	40649222	40649223	+	Frame_Shift_Ins	INS	-	-	A													tttcgggtgcttcaaaacccINSaaaaaatacattctgattac							TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr21:40649222_40649223insA	uc002yxk.1	-	11	1197_1198	c.1058_1059insT	c.(1057-1059)TTGfs	p.L353fs	BRWD1_uc002yxl.2_Frame_Shift_Ins_p.L353fs|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Frame_Shift_Ins_p.L73fs	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	353	WD 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTTCAAAACCCAAAAAATACAT	0.322													A	40649223	-	A	40649222	7	5	112	1	0	1	1	0	0	0	0	0	1525	593	21	0	6270	0	BRWD1	21	40649222	Frame_Shift_Ins	INS	-	TCGA-BR-A452-01A-91D-A25D-08	8025013	40649222	7480673	119	74323	334	2									
BRWD1	54014	broad.mit.edu	37	chr21	40649223	40649224	+	Frame_Shift_Ins	INS	-	-	A													ttcgggtgcttcaaaacccaINSaaaaatacattctgattaca							TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr21:40649222_40649223C>CA	uc002yxk.2	-	10	1353_1354	c.1058_1059G>TG	c.(1057-1059)ttgfs	p.L353fs	BRWD1_uc021wjf.1_Frame_Shift_Ins_p.L353fs|BRWD1_uc010goe.1_Non-coding_Transcript|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_Non-coding_Transcript|BRWD1_uc010goh.1_Non-coding_Transcript|BRWD1_uc010goi.1_Frame_Shift_Ins_p.L73fs	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTTCAAAACCCAAAAAATACAT	0.322													A	40649224	-	A	40649223	7	5	112	1	0	1	1	0	0	0	0	0	1525	131	5	0	6271	0	BRWD1	21	40649223	Frame_Shift_Ins	INS	-	TCGA-BR-A452-01A-91D-A25D-08	1	40649223	7480672	120	74324	334	2									
CCT8L2	150160	broad.mit.edu	37	chr22	17072615	17072615	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tacttgcttttctagtaattGatcgcttcctttactaaatt	4	8	1	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr22:17072615G>T	uc002zlp.1	-	1	1086	c.826C>A	c.(826-828)CAA>AAA	p.Q276K		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	276					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCTAGTAATTGATCGCTTCCT	0.517													T	17072615	G	T	17072615	3	4	112	1	0	0	0	0	1	0	0	0	2961	1299	45	5	851	5	CCT8L2	22	17072615	Missense_Mutation	SNP	G	TCGA-BR-A452-01A-91D-A25D-08		17072615	34231951	121	74325											
SEPT5	5413	broad.mit.edu	37	chr22	19709185	19709185	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcgcgcccttcgccgttaTaggcagcaacacggtggtgg	15	12	0	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr22:19709185T>C	uc002zpv.1	+	9	865	c.740T>C	c.(739-741)ATA>ACA	p.I247T	SEPT5_uc002zpw.1_RNA|SEPT5_uc002zpx.1_RNA|SEPT5_uc002zpy.1_5'UTR|SEPT5_uc002zpz.1_5'Flank	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	septin 5	247					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)	1	Colorectal(54;0.0993)					TTCGCCGTTATAGGCAGCAAC	0.627													C	19709185	T	C	19709185	3	2	112	1	0	0	0	0	1	0	0	0	14067	1406	49	3	774	3	SEPT5	22	19709185	Missense_Mutation	SNP	T	TCGA-BR-A452-01A-91D-A25D-08	2636570	19709185	31595381	122	74326											
NLGN4X	57502	broad.mit.edu	37	chrX	5821801	5821801	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccgtggtgtccagcatgttGcagccgaccttgtctgccaa	11	13	1	0			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chrX:5821801G>T	uc010ndh.2	-	5	1419	c.918C>A	c.(916-918)TGC>TGA	p.C306*	NLGN4X_uc004crp.2_Nonsense_Mutation_p.C326*|NLGN4X_uc004crq.2_Nonsense_Mutation_p.C306*|NLGN4X_uc010ndi.2_Nonsense_Mutation_p.C343*|NLGN4X_uc004crr.2_Nonsense_Mutation_p.C306*|NLGN4X_uc010ndj.2_Nonsense_Mutation_p.C306*	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	306	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						CCAGCATGTTGCAGCCGACCT	0.577													T	5821801	G	T	5821801	4	4	112	1	0	0	0	0	0	1	0	0	10464	1311	46	5	1540	5	NLGN4X	23	5821801	Nonsense_Mutation	SNP	G	TCGA-BR-A452-01A-91D-A25D-08		5821801	149448759	123	74327											
FIGF	2277	broad.mit.edu	37	chrX	15365304	15365304	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgcaggtgtctgggtgaAatagcttgtgcttctggcag	14	8	2	1			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chrX:15365304A>G	uc004cwt.1	-	6	1429	c.920T>C	c.(919-921)TTT>TCT	p.F307S		NM_004469	NP_004460	O43915	VEGFD_HUMAN	vascular endothelial growth factor D	307	4.|4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Hepatocellular(33;0.183)					GTCTGGGTGAAATAGCTTGTG	0.438													G	15365304	A	G	15365304	3	3	112	1	0	0	0	0	1	0	0	0	5889	14	1	3	152	3	FIGF	23	15365304	Missense_Mutation	SNP	A	TCGA-BR-A452-01A-91D-A25D-08	9543503	15365304	139905256	124	74328											
GPR64	10149	broad.mit.edu	37	chrX	19024132	19024132	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catattaccagcagaacgccGaagcttgttagatggctaca	9	10	0	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chrX:19024132G>A	uc004cyx.2	-	22	1991	c.1827C>T	c.(1825-1827)TTC>TTT	p.F609F	GPR64_uc004cyy.2_Silent_p.F606F|GPR64_uc004cyz.2_Silent_p.F595F|GPR64_uc004czb.2_Silent_p.F609F|GPR64_uc004czc.2_Silent_p.F593F|GPR64_uc004czd.2_Silent_p.F585F|GPR64_uc004cze.2_Silent_p.F579F|GPR64_uc004czf.2_Silent_p.F571F|GPR64_uc004cza.2_Silent_p.F587F|GPR64_uc004cyw.2_Silent_p.F593F|GPR64_uc010nfj.2_Silent_p.F490F	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	609	GPS.|Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					GCAGAACGCCGAAGCTTGTTA	0.493													A	19024132	G	A	19024132	2	1	112	1	0	0	0	0	0	0	0	1	6705	1049	37	1		1	GPR64	23	19024132	Silent	SNP	G	TCGA-BR-A452-01A-91D-A25D-08	3658828	19024132	136246428	125	74329											
DMD	1756	broad.mit.edu	37	chrX	31496452	31496452	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcagcctgctttcgtagaAgccgagtgacattctgggct	11	12	2	2			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chrX:31496452A>C	uc004dda.1	-	59	8952	c.8708T>G	c.(8707-8709)CTT>CGT	p.L2903R	DMD_uc004dcq.1_Missense_Mutation_p.L174R|DMD_uc004dcr.1_Missense_Mutation_p.L443R|DMD_uc004dcs.1_Missense_Mutation_p.L443R|DMD_uc004dct.1_Missense_Mutation_p.L443R|DMD_uc004dcu.1_Missense_Mutation_p.L443R|DMD_uc004dcv.1_Missense_Mutation_p.L443R|DMD_uc004dcw.2_Missense_Mutation_p.L1559R|DMD_uc004dcx.2_Missense_Mutation_p.L1562R|DMD_uc004dcz.2_Missense_Mutation_p.L2780R|DMD_uc004dcy.1_Missense_Mutation_p.L2899R|DMD_uc004ddb.1_Missense_Mutation_p.L2895R	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2903	Spectrin 20.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTTCGTAGAAGCCGAGTGAC	0.438													C	31496452	A	C	31496452	3	2	112	1	0	0	0	0	1	0	0	0	4580	72	3	5	2547	5	DMD	23	31496452	Missense_Mutation	SNP	A	TCGA-BR-A452-01A-91D-A25D-08	12472320	31496452	123774108	126	74330											
ARID1A	8289	broad.mit.edu	37	chr1	27057730	27057730	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaaagtcctcaccctcagCagcagcagccaccctactcc	6	19	2	0			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr1:27057730C>T	uc001bmv.1	+	3	1811	c.1438C>T	c.(1438-1440)CAG>TAG	p.Q480*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q480*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q480*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q97*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	480	Poly-Gln.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCACCCTCAGCAGCAGCAGCC	0.567			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								T	27057730	C	T	27057730	4	4	113	1	0	0	0	0	0	1	0	0	913	711	25	2	1448	2	ARID1A	1	27057730	Nonsense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08		27057730	222192891	1	74331											
C1orf109	54955	broad.mit.edu	37	chr1	38155399	38155399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaaccgcaggttctgtgCggcctgcagctgttccgcca	11	15	2	0			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr1:38155399C>T	uc001cbp.2	-	2	344	c.154G>A	c.(154-156)GCA>ACA	p.A52T	C1orf109_uc010oig.1_Missense_Mutation_p.A115T|C1orf109_uc001cbo.2_Missense_Mutation_p.A114T|C1orf109_uc001cbq.1_Missense_Mutation_p.A52T|CDCA8_uc001cbr.2_5'Flank|CDCA8_uc001cbs.2_5'Flank	NM_017850	NP_060320	Q9NX04	CA109_HUMAN	hypothetical protein LOC54955	52											0		Myeloproliferative disorder(586;0.0393)				AGGTTCTGTGCGGCCTGCAGC	0.652													T	38155399	C	T	38155399	3	4	113	1	0	0	0	0	1	0	0	0	1982	768	27	1	473	1	C1orf109	1	38155399	Missense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08	11097669	38155399	211095222	2	74332											
USP24	23358	broad.mit.edu	37	chr1	55619860	55619860	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctttcactgcatatgcatCactaaggattgtcaggtgct	8	9	4	0			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr1:55619860C>A	uc001cyg.3	-	13	1312	c.1312G>T	c.(1312-1314)GAT>TAT	p.D438Y		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	582					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						GCATATGCATCACTAAGGATT	0.438													A	55619860	C	A	55619860	3	1	113	1	0	0	0	0	1	0	0	0	17052	826	29	5	6334	5	USP24	1	55619860	Missense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08	17464461	55619860	193630761	3	74333											
TNNI3K	51086	broad.mit.edu	37	chr1	75009634	75009634	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgcattttcattcttgcCgaaatagtagcagctttgag	8	8	2	1			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr1:75009634C>T	uc001dgf.1	+	25	2527	c.2476C>T	c.(2476-2478)CGA>TGA	p.R826*	TNNI3K_uc001dge.1_Nonsense_Mutation_p.R927*	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	826						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						TCATTCTTGCCGAAATAGTAG	0.453													T	75009634	C	T	75009634	4	4	113	1	0	0	0	0	0	1	0	0	16326	644	23	1	2929	1	TNNI3K	1	75009634	Nonsense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08	19389774	75009634	174240987	4	74334											
WDR47	22911	broad.mit.edu	37	chr1	109538366	109538366	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagaaccattagatccattGcctttgctcccattacattg	6	11	0	2			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr1:109538366G>T	uc001dwj.2	-	8	1903	c.1527C>A	c.(1525-1527)GGC>GGA	p.G509G	WDR47_uc001dwl.2_Silent_p.G517G|WDR47_uc001dwi.2_Silent_p.G510G|WDR47_uc001dwk.2_Silent_p.G481G|WDR47_uc010ovf.1_Silent_p.G436G	NM_001142551	NP_001136023	O94967	WDR47_HUMAN	WD repeat domain 47 isoform 3	509										ovary(1)	1		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TAGATCCATTGCCTTTGCTCC	0.393													T	109538366	G	T	109538366	2	4	113	1	0	0	0	0	0	0	0	1	17297	1306	46	5		5	WDR47	1	109538366	Silent	SNP	G	TCGA-BR-A453-01A-11D-A24D-08	34528732	109538366	139712255	5	74335											
SHE	126669	broad.mit.edu	37	chr1	154474183	154474183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaatcagaccctgcaggCtgtcgcgggacagccggctg	14	14	1	2			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr1:154474183C>T	uc001ffb.2	-	1	407	c.320G>A	c.(319-321)AGC>AAC	p.S107N	SHE_uc001ffc.2_RNA|TDRD10_uc001ffd.2_5'Flank|TDRD10_uc009wow.2_5'Flank	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	107										breast(3)|ovary(2)|central_nervous_system(1)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACCCTGCAGGCTGTCGCGGGA	0.741													T	154474183	C	T	154474183	3	4	113	1	0	0	0	0	1	0	0	0	14276	797	28	2	1191	2	SHE	1	154474183	Missense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08	44935817	154474183	94776438	6	74336											
PTPRC	5788	broad.mit.edu	37	chr1	198676006	198676006	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcataaccttacagaatgtAaaaatgcgtctgtttccata	6	8	1	1			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr1:198676006A>T	uc001gur.1	+	9	1003	c.823A>T	c.(823-825)AAA>TAA	p.K275*	PTPRC_uc001gus.1_Nonsense_Mutation_p.K227*|PTPRC_uc001gut.1_Nonsense_Mutation_p.K114*|PTPRC_uc009wzf.1_Nonsense_Mutation_p.K163*|PTPRC_uc010ppg.1_Nonsense_Mutation_p.K211*	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	275	Extracellular (Potential).				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						TACAGAATGTAAAAATGCGTC	0.303													T	198676006	A	T	198676006	4	4	113	1	0	0	0	0	0	1	0	0	12797	363	13	5	864	5	PTPRC	1	198676006	Nonsense_Mutation	SNP	A	TCGA-BR-A453-01A-11D-A24D-08	44201823	198676006	50574615	7	74337											
C1orf107	27042	broad.mit.edu	37	chr1	210008472	210008472	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaaaagcaattcaggcTgttgccacaaatcccaaaac	6	10	1	1			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr1:210008472T>A	uc001hhr.1	+	5	691	c.615T>A	c.(613-615)GCT>GCA	p.A205A	C1orf107_uc009xcu.1_5'UTR	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	digestive-organ expansion factor homolog	205					multicellular organismal development	nucleus					0				OV - Ovarian serous cystadenocarcinoma(81;0.0367)		CAATTCAGGCTGTTGCCACAA	0.393													A	210008472	T	A	210008472	2	1	113	1	0	0	0	0	0	0	0	1	1981	1567	55	5		5	C1orf107	1	210008472	Silent	SNP	T	TCGA-BR-A453-01A-11D-A24D-08	11332466	210008472	39242149	8	74338											
PUM2	23369	broad.mit.edu	37	chr2	20455840	20455840	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtagtgactgtggctgaAcacattcgatacatttttgt	9	7	0	2			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr2:20455840A>G	uc002rds.1	-	16	2599	c.2576T>C	c.(2575-2577)GTT>GCT	p.V859A	PUM2_uc002rdq.1_Missense_Mutation_p.V238A|PUM2_uc002rdt.1_Missense_Mutation_p.V859A|PUM2_uc002rdr.2_Missense_Mutation_p.V719A|PUM2_uc010yjy.1_Missense_Mutation_p.V780A|PUM2_uc002rdu.1_Missense_Mutation_p.V859A|PUM2_uc010yjz.1_Missense_Mutation_p.V798A	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	861	PUM-HD.|Pumilio 4.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGGCTGAACACATTCGAT	0.368													G	20455840	A	G	20455840	3	3	113	1	0	0	0	0	1	0	0	0	12826	43	2	3	638	3	PUM2	2	20455840	Missense_Mutation	SNP	A	TCGA-BR-A453-01A-11D-A24D-08		20455840	222743533	9	74339											
LRRTM1	347730	broad.mit.edu	37	chr2	80530382	80530382	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtatccgatgtcgagaaacTtgaggctgcggcagtcctgg	14	9	0	2	rs151115994		TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr2:80530382T>C	uc002sok.1	-	2	833	c.563A>G	c.(562-564)AAG>AGG	p.K188R	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	188	LRR 5.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GTCGAGAAACTTGAGGCTGCG	0.587										HNSCC(69;0.2)			C	80530382	T	C	80530382	3	2	113	1	0	0	0	0	1	0	0	0	9039	1609	56	3	1009	3	LRRTM1	2	80530382	Missense_Mutation	SNP	T	TCGA-BR-A453-01A-11D-A24D-08	60074542	80530382	162668991	10	74340											
MYO7B	4648	broad.mit.edu	37	chr2	128377979	128377979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaacaagcagcctggccCggggctggatcctgctcagc	12	14	2	0			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr2:128377979C>T	uc002top.2	+	26	3438	c.3385C>T	c.(3385-3387)CGG>TGG	p.R1129W	MYO7B_uc002toq.1_5'UTR|MYO7B_uc002tor.1_5'UTR	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	1129	MyTH4 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAGCCTGGCCCGGGGCTGGAT	0.587													T	128377979	C	T	128377979	3	4	113	1	0	0	0	0	1	0	0	0	10083	643	23	1	3483	1	MYO7B	2	128377979	Missense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08	47847597	128377979	114821394	11	74341											
TTN	7273	broad.mit.edu	37	chr2	179395780	179395780	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcctggactgaagagaTctcaaaggttgatttgtact	12	6	1	3			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr2:179395780T>A	uc010zfg.1	-	307	98082	c.97858A>T	c.(97858-97860)ATC>TTC	p.I32620F	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I26315F|TTN_uc010zfi.1_Missense_Mutation_p.I26248F|TTN_uc010zfj.1_Missense_Mutation_p.I26123F|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33547							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGAAGAGATCTCAAAGGTT	0.488													A	179395780	T	A	179395780	3	1	113	1	0	0	0	0	1	0	0	0	16732	1435	50	5	2437	5	TTN	2	179395780	Missense_Mutation	SNP	T	TCGA-BR-A453-01A-11D-A24D-08	51017801	179395780	63803593	12	74342											
UGT1A1	54658	broad.mit.edu	37	chr2	234669274	234669274	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgtgatcaaaacatacaAgaaaataaaaaaggactctg	8	6	2	2			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr2:234669274A>T	uc002vvb.2	+	1	356	c.341A>T	c.(340-342)AAG>ATG	p.K114M	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.K114M	NM_000463	NP_000454	P22309	UD11_HUMAN	UDP glycosyltransferase 1 family, polypeptide A1	114					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			central_nervous_system(1)|skin(1)	2		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AAAACATACAAGAAAATAAAA	0.438													T	234669274	A	T	234669274	3	4	113	1	0	0	0	0	1	0	0	0	16941	72	3	5	343	5	UGT1A1	2	234669274	Missense_Mutation	SNP	A	TCGA-BR-A453-01A-11D-A24D-08	55273494	234669274	8530099	13	74343											
MTERFD2	130916	broad.mit.edu	37	chr2	242035431	242035431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctattcctcctcgtcgtcGtcctcatcctcatcattgtc	5	16	3	0	rs114631297	by1000genomes	TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr2:242035431G>A	uc002wan.1	-	3	1708	c.1215C>T	c.(1213-1215)GAC>GAT	p.D405D	MTERFD2_uc010zoj.1_Silent_p.D188D	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	376										ovary(1)	1		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		CCtcgtcgtcgtcctcatcct	0.204													A	242035431	G	A	242035431	2	1	113	1	0	0	0	0	0	0	0	1	9920	1136	40	1		1	MTERFD2	2	242035431	Silent	SNP	G	TCGA-BR-A453-01A-11D-A24D-08	7366157	242035431	1163942	14	74344											
SATB1	6304	broad.mit.edu	37	chr3	18390940	18390940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagagtctggatggcctcttCgtcagggtacaggcccacgt	13	12	3	1			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr3:18390940C>T	uc003cbh.2	-	11	3749	c.2014G>A	c.(2014-2016)GAA>AAA	p.E672K	SATB1_uc003cbi.2_Missense_Mutation_p.E704K|SATB1_uc003cbj.2_Missense_Mutation_p.E672K	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	672	Homeobox.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						ATGGCCTCTTCGTCAGGGTAC	0.517													T	18390940	C	T	18390940	3	4	113	1	0	0	0	0	1	0	0	0	13853	893	31	1	281	1	SATB1	3	18390940	Missense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08		18390940	179631490	15	74345											
KCNMB3	27094	broad.mit.edu	37	chr3	178962330	178962330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attataatgtaggagagcttTctgacctggatggctgaggt	13	5	1	3			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr3:178962330T>C	uc003fjm.2	-	3	924	c.412A>G	c.(412-414)AAA>GAA	p.K138E	KCNMB3_uc003fjl.3_RNA|KCNMB3_uc011bqc.1_Missense_Mutation_p.K136E|KCNMB3_uc003fjn.2_Missense_Mutation_p.K134E|KCNMB3_uc003fjo.2_Missense_Mutation_p.K116E|KCNMB3_uc003fjp.1_Missense_Mutation_p.K136E	NM_014407	NP_055222	Q9NPA1	KCMB3_HUMAN	calcium-activated potassium channel beta 3	138	Extracellular (Potential).				detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity				0	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			AGGAGAGCTTTCTGACCTGGA	0.498													C	178962330	T	C	178962330	3	2	113	1	0	0	0	0	1	0	0	0	8076	1792	62	3	508	3	KCNMB3	3	178962330	Missense_Mutation	SNP	T	TCGA-BR-A453-01A-11D-A24D-08	160571390	178962330	19060100	16	74346											
APOD	347	broad.mit.edu	37	chr3	195295971	195295971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagggcatagttctcatagtCggtggccaggatccagtacg	14	9	1	0			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr3:195295971C>T	uc003fur.2	-	5	732	c.370G>A	c.(370-372)GAC>AAC	p.D124N		NM_001647	NP_001638	P05090	APOD_HUMAN	apolipoprotein D precursor	124					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			ovary(2)	2	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TTCTCATAGTCGGTGGCCAGG	0.493													T	195295971	C	T	195295971	3	4	113	1	0	0	0	0	1	0	0	0	801	884	31	1	203	1	APOD	3	195295971	Missense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08	16333641	195295971	2726459	17	74347											
LRCH3	84859	broad.mit.edu	37	chr3	197598304	197598304	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtgcgacctcgatctgtcCcaagcattcatgttccctca	7	14	3	0			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr3:197598304C>A	uc011bul.1	+	19	2106	c.2101C>A	c.(2101-2103)CCA>ACA	p.P701T	LRCH3_uc003fyj.1_Missense_Mutation_p.P701T|LRCH3_uc011bum.1_Missense_Mutation_p.P649T|LRCH3_uc011bun.1_Missense_Mutation_p.P547T|LRCH3_uc003fyk.2_Missense_Mutation_p.P296T	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH)	701	CH.					extracellular region				ovary(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TCGATCTGTCCCAAGCATTCA	0.433													A	197598304	C	A	197598304	3	1	113	1	0	0	0	0	1	0	0	0	8934	623	22	5	2175	5	LRCH3	3	197598304	Missense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08	2302333	197598304	424126	18	74348											
POLN	353497	broad.mit.edu	37	chr4	2082754	2082754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccagcttgcagaggtcaGcagcggagcctatggggcgc	17	11	1	1			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr4:2082754G>A	uc003ger.2	-	21	2318	c.2318C>T	c.(2317-2319)GCT>GTT	p.A773V	POLN_uc010icg.1_Missense_Mutation_p.A221V|POLN_uc010ich.1_3'UTR	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	773					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GCAGAGGTCAGCAGCGGAGCC	0.602								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	2082754	G	A	2082754	3	1	113	1	0	0	0	0	1	0	0	0	12207	971	34	2	400	2	POLN	4	2082754	Missense_Mutation	SNP	G	TCGA-BR-A453-01A-11D-A24D-08		2082754	189071522	19	74349											
FGF5	2250	broad.mit.edu	37	chr4	81188284	81188284	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggcatcggtttccatctgcaGatctacccggatggcaaagt	11	11	2	1			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr4:81188284G>T	uc003hmd.2	+	1	543	c.306G>T	c.(304-306)CAG>CAT	p.Q102H	FGF5_uc003hme.2_Missense_Mutation_p.Q102H	NM_004464	NP_004455	P12034	FGF5_HUMAN	fibroblast growth factor 5 isoform 1 precursor	102					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			ovary(1)|breast(1)	2						TCCATCTGCAGATCTACCCGG	0.572													T	81188284	G	T	81188284	3	4	113	1	0	0	0	0	1	0	0	0	5855	933	33	5	308	5	FGF5	4	81188284	Missense_Mutation	SNP	G	TCGA-BR-A453-01A-11D-A24D-08	79105530	81188284	109965992	20	74350											
WDR17	116966	broad.mit.edu	37	chr4	177073081	177073081	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacttgagattaggacaaaTtcagagatactgtgaactta	8	7	1	3			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr4:177073081T>A	uc003iuj.2	+	18	2651	c.2495T>A	c.(2494-2496)ATT>AAT	p.I832N	WDR17_uc003iuk.2_Missense_Mutation_p.I808N|WDR17_uc003ium.3_Missense_Mutation_p.I808N|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.I51N	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	832										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		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;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTAGGACAAATTCAGAGATAC	0.363													A	177073081	T	A	177073081	3	1	113	1	0	0	0	0	1	0	0	0	17274	1493	52	5	2561	5	WDR17	4	177073081	Missense_Mutation	SNP	T	TCGA-BR-A453-01A-11D-A24D-08	95884797	177073081	14081195	21	74351											
ADCY2	108	broad.mit.edu	37	chr5	7784525	7784525	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catgggctctgtgtctctctCtatattcttcatcacactgc	6	13	6	0			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr5:7784525C>A	uc003jdz.1	+	19	2499	c.2432C>A	c.(2431-2433)TCT>TAT	p.S811Y	ADCY2_uc011cmo.1_Missense_Mutation_p.S631Y|ADCY2_uc010itm.1_Missense_Mutation_p.S7Y	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	811	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						GTGTCTCTCTCTATATTCTTC	0.378													A	7784525	C	A	7784525	3	1	113	1	0	0	0	0	1	0	0	0	294	913	32	5	2506	5	ADCY2	5	7784525	Missense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08		7784525	173130735	22	74352											
MAP1B	4131	broad.mit.edu	37	chr5	71491474	71491474	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagtacccaagaaggaagaGtctgtcaagaaagattctgt	10	6	3	4			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr5:71491474G>T	uc003kbw.3	+	5	2533	c.2292G>T	c.(2290-2292)GAG>GAT	p.E764D	MAP1B_uc010iyw.1_Missense_Mutation_p.E781D|MAP1B_uc010iyx.1_Missense_Mutation_p.E638D|MAP1B_uc010iyy.1_Missense_Mutation_p.E638D	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	764	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).					microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGAAGGAAGAGTCTGTCAAGA	0.438													T	71491474	G	T	71491474	3	4	113	1	0	0	0	0	1	0	0	0	9228	1020	36	5	2310	5	MAP1B	5	71491474	Missense_Mutation	SNP	G	TCGA-BR-A453-01A-11D-A24D-08	63706949	71491474	109423786	23	74353											
SEMA6A	57556	broad.mit.edu	37	chr5	115782630	115782630	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggtggcttctcgtgagCgagttcgtggggtagctcct	16	10	1	1			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr5:115782630C>T	uc010jck.2	-	19	3481	c.2772G>A	c.(2770-2772)TCG>TCA	p.S924S	SEMA6A_uc003krx.3_Silent_p.S941S|SEMA6A_uc011cwe.1_Silent_p.S303S|SEMA6A_uc003krv.3_Silent_p.S351S|SEMA6A_uc003krw.3_Silent_p.S401S|SEMA6A_uc010jcj.2_Silent_p.S468S	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	924	Cytoplasmic (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TTCTCGTGAGCGAGTTCGTGG	0.552													T	115782630	C	T	115782630	2	4	113	1	0	0	0	0	0	0	0	1	14039	755	27	1		1	SEMA6A	5	115782630	Silent	SNP	C	TCGA-BR-A453-01A-11D-A24D-08	44291156	115782630	65132630	24	74354											
SNCAIP	9627	broad.mit.edu	37	chr5	121759300	121759300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacctacaatcctcagcaGcagaatccaaaccagaagag	6	14	1	3			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr5:121759300G>A	uc003ksw.1	+	4	1074	c.868G>A	c.(868-870)GCA>ACA	p.A290T	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.2_Missense_Mutation_p.A290T|SNCAIP_uc003ksx.1_Missense_Mutation_p.A337T|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.A290T	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	290					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ATCCTCAGCAGCAGAATCCAA	0.478													A	121759300	G	A	121759300	3	1	113	1	0	0	0	0	1	0	0	0	14841	971	34	2	878	2	SNCAIP	5	121759300	Missense_Mutation	SNP	G	TCGA-BR-A453-01A-11D-A24D-08	5976670	121759300	59155960	25	74355											
PCDHA7	56141	broad.mit.edu	37	chr5	140215247	140215247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatgagctggtggttaccGcgcgggacgggggctcgcct	17	12	0	1			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr5:140215247G>A	uc003lhq.2	+	1	1279	c.1279G>A	c.(1279-1281)GCG>ACG	p.A427T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A427T	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	427	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGTTACCGCGCGGGACGG	0.622													A	140215247	G	A	140215247	3	1	113	1	0	0	0	0	1	0	0	0	11529	1087	38	1	1281	1	PCDHA7	5	140215247	Missense_Mutation	SNP	G	TCGA-BR-A453-01A-11D-A24D-08	18455947	140215247	40700013	26	74356											
PCDHB10	56126	broad.mit.edu	37	chr5	140572186	140572186	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtttctttttctttttTggggagtgtccttggcaggt	11	7	2	0			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr5:140572186T>G	uc003lix.2	+	1	235	c.61T>G	c.(61-63)TGG>GGG	p.W21G		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	21					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTTCTTTTTTGGGGAGTGTC	0.468													G	140572186	T	G	140572186	3	3	113	1	0	0	0	0	1	0	0	0	11535	1812	63	5	63	5	PCDHB10	5	140572186	Missense_Mutation	SNP	T	TCGA-BR-A453-01A-11D-A24D-08	356939	140572186	40343074	27	74357											
PCDHB12	56124	broad.mit.edu	37	chr5	140590251	140590251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtgaccaaggtggtggCggtggacggtgactcgggcc	19	10	0	2			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr5:140590251C>T	uc003liz.2	+	1	1961	c.1772C>T	c.(1771-1773)GCG>GTG	p.A591V	PCDHB12_uc011dak.1_Missense_Mutation_p.A254V	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	591	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGGTGGTGGCGGTGGACGGT	0.701													T	140590251	C	T	140590251	3	4	113	1	0	0	0	0	1	0	0	0	11537	768	27	1	1774	1	PCDHB12	5	140590251	Missense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08	18065	140590251	40325009	28	74358											
C6orf25	80739	broad.mit.edu	37	chr6	31691520	31691520	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttcccggcctgcaagggcCtgtccaaaggacgccgaccg	13	16	0	0			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr6:31691520C>A	uc011doc.1	+	2	166	c.166C>A	c.(166-168)CTG>ATG	p.L56M	LY6G6C_uc003nwh.2_5'Flank|LY6G6C_uc010jtd.2_5'Flank|C6orf25_uc003nwk.2_Missense_Mutation_p.L56M|C6orf25_uc011dod.1_Missense_Mutation_p.L56M|C6orf25_uc011doe.1_Missense_Mutation_p.L56M|C6orf25_uc003nwo.2_Missense_Mutation_p.L56M|C6orf25_uc003nwn.2_Missense_Mutation_p.L56M	NM_138272	NP_612116	O95866	G6B_HUMAN	G6B protein isoform G6b-B precursor	56	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity				0						CTGCAAGGGCCTGTCCAAAGG	0.692													A	31691520	C	A	31691520	3	1	113	1	0	0	0	0	1	0	0	0	2360	680	24	5	172	5	C6orf25	6	31691520	Missense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08		31691520	139423547	29	74359											
ZBTB22	9278	broad.mit.edu	37	chr6	33283022	33283022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacagtgtcctcggtggcGcatgaagctgtctcgccaca	11	14	2	1			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr6:33283022G>A	uc003oeb.2	-	2	1824	c.1672C>T	c.(1672-1674)CGC>TGC	p.R558C	TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Missense_Mutation_p.R558C	NM_005453	NP_005444	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	558	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCTCGGTGGCGCATGAAGCTG	0.642													A	33283022	G	A	33283022	3	1	113	1	0	0	0	0	1	0	0	0	17527	1087	38	1	236	1	ZBTB22	6	33283022	Missense_Mutation	SNP	G	TCGA-BR-A453-01A-11D-A24D-08	1591502	33283022	137832045	30	74360											
USP42	84132	broad.mit.edu	37	chr7	6189448	6189448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgtcagtctcaacctaacCttcatagtaattctttggag	7	9	4	0			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr7:6189448C>A	uc011jwo.1	+	13	1744	c.1621C>A	c.(1621-1623)CTT>ATT	p.L541I	USP42_uc010kth.1_Missense_Mutation_p.L474I|USP42_uc011jwp.1_Missense_Mutation_p.L541I|USP42_uc011jwq.1_Missense_Mutation_p.L348I|USP42_uc011jwr.1_Missense_Mutation_p.L386I	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	541					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TCAACCTAACCTTCATAGTAA	0.428													A	6189448	C	A	6189448	3	1	113	1	0	0	0	0	1	0	0	0	17070	681	24	5	1667	5	USP42	7	6189448	Missense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08		6189448	152949215	31	74361											
COL28A1	340267	broad.mit.edu	37	chr7	7484115	7484115	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagccctattgagcctggCtctccctggtgaatgaacaa	12	11	1	3			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr7:7484115C>T	uc003src.1	-	19	1632	c.1515G>A	c.(1513-1515)GAG>GAA	p.E505E	COL28A1_uc011jxe.1_Silent_p.E188E|COL28A1_uc003srd.2_Silent_p.E60E	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	505	Collagen-like 4.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTGAGCCTGGCTCTCCCTGGT	0.448													T	7484115	C	T	7484115	2	4	113	1	0	0	0	0	0	0	0	1	3686	796	28	2		2	COL28A1	7	7484115	Silent	SNP	C	TCGA-BR-A453-01A-11D-A24D-08	1294667	7484115	151654548	32	74362											
EGFR	1956	broad.mit.edu	37	chr7	55220294	55220294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgccgtggcaagtccccCagtgactgctgccacaacca	10	17	0	1			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr7:55220294C>T	uc003tqk.2	+	6	930	c.684C>T	c.(682-684)CCC>CCT	p.P228P	EGFR_uc003tqh.2_Silent_p.P228P|EGFR_uc003tqi.2_Silent_p.P228P|EGFR_uc003tqj.2_Silent_p.P228P|EGFR_uc010kzg.1_Silent_p.P183P|EGFR_uc011kco.1_Silent_p.P175P|EGFR_uc003tql.1_RNA	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	228	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCAAGTCCCCCAGTGACTGCT	0.617		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55220294	C	T	55220294	2	4	113	1	0	0	0	0	0	0	0	1	4967	581	21	4		4	EGFR	7	55220294	Silent	SNP	C	TCGA-BR-A453-01A-11D-A24D-08	47736179	55220294	103918369	33	74363											
MLXIPL	51085	broad.mit.edu	37	chr7	73011627	73011627	+	Frame_Shift_Del	DEL	G	G	-													tgtcccctaggggatggggcGgggggcttgcctctgggcat							TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr7:73011627delG	uc003tyn.1	-	9	1536	c.1488delC	c.(1486-1488)CCCfs	p.P496fs	MLXIPL_uc003tyj.1_5'UTR|MLXIPL_uc003tyk.1_Frame_Shift_Del_p.P496fs|MLXIPL_uc003tyl.1_Frame_Shift_Del_p.P496fs|MLXIPL_uc003tym.1_Frame_Shift_Del_p.P496fs|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Frame_Shift_Del_p.P403fs|MLXIPL_uc003tyq.1_Frame_Shift_Del_p.P238fs	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	496					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGATGGGGCGGGGGGCTTGC	0.667													-	73011627	G	-	73011627	7	5	113	1	0	1	0	1	0	0	0	0	9637	1103	39	0	1106	0	MLXIPL	7	73011627	Frame_Shift_Del	DEL	G	TCGA-BR-A453-01A-11D-A24D-08	17791333	73011627	86127036	34	74364											
OR2A5	393046	broad.mit.edu	37	chr7	143747810	143747810	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagacctttttatacatgGcttttgctcacactgagtgt	8	9	1	2			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr7:143747810G>T	uc011ktw.1	+	1	316	c.316G>T	c.(316-318)GCT>TCT	p.A106S		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A,	106	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0783)					TTTATACATGGCTTTTGCTCA	0.448													T	143747810	G	T	143747810	3	4	113	1	0	0	0	0	1	0	0	0	10981	1203	42	5	318	5	OR2A5	7	143747810	Missense_Mutation	SNP	G	TCGA-BR-A453-01A-11D-A24D-08	70736183	143747810	15390853	35	74365											
ZNF467	168544	broad.mit.edu	37	chr7	149461947	149461947	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcggctgaagctctttccGcactgcgggcaggagaaggg	16	10	1	2			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr7:149461947G>A	uc003wgd.2	-	5	1785	c.1644C>T	c.(1642-1644)TGC>TGT	p.C548C	ZNF467_uc003wgc.2_Intron	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	548	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCTCTTTCCGCACTGCGGGC	0.701													A	149461947	G	A	149461947	2	1	113	1	0	0	0	0	0	0	0	1	17924	1079	38	1		1	ZNF467	7	149461947	Silent	SNP	G	TCGA-BR-A453-01A-11D-A24D-08	5714137	149461947	9676716	36	74366											
DLC1	10395	broad.mit.edu	37	chr8	12973125	12973125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgcatactgggggaaacCagttgcccgtagccaatcac	11	12	1	0			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr8:12973125C>T	uc003wwm.2	-	6	1834	c.1390G>A	c.(1390-1392)GGT>AGT	p.G464S	DLC1_uc003wwk.1_Missense_Mutation_p.G27S|DLC1_uc003wwl.1_Missense_Mutation_p.G61S|DLC1_uc011kxx.1_5'UTR	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	464	SAM.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TGGGGGAAACCAGTTGCCCGT	0.413													T	12973125	C	T	12973125	3	4	113	1	0	0	0	0	1	0	0	0	4550	594	21	4	3248	4	DLC1	8	12973125	Missense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08		12973125	133390897	37	74367											
DLC1	10395	broad.mit.edu	37	chr8	13357061	13357061	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccactttcttttaccaGtgctaattcagtttcaccag	4	14	3	0			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr8:13357061G>A	uc003wwm.2	-	2	964	c.520C>T	c.(520-522)CTG>TTG	p.L174L	DLC1_uc003wwn.2_Silent_p.L174L|DLC1_uc011kxy.1_Silent_p.L174L	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	174					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TCTTTTACCAGTGCTAATTCA	0.408													A	13357061	G	A	13357061	2	1	113	1	0	0	0	0	0	0	0	1	4550	1020	36	4		4	DLC1	8	13357061	Silent	SNP	G	TCGA-BR-A453-01A-11D-A24D-08	383936	13357061	133006961	38	74368											
CA9	768	broad.mit.edu	37	chr9	35679303	35679303	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccagggtgtcatctggacTgtgtttaaccagacagtgat	12	9	2	2			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr9:35679303T>C	uc003zxo.3	+	7	1071	c.1029T>C	c.(1027-1029)ACT>ACC	p.T343T	CA9_uc003zxp.3_Silent_p.T343T	NM_001216	NP_001207	Q16790	CAH9_HUMAN	carbonic anhydrase IX precursor	343	Extracellular.|Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			ovary(4)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCATCTGGACTGTGTTTAACC	0.552													C	35679303	T	C	35679303	2	2	113	1	0	0	0	0	0	0	0	1	2524	1567	55	3		3	CA9	9	35679303	Silent	SNP	T	TCGA-BR-A453-01A-11D-A24D-08		35679303	105534128	39	74369											
AUH	549	broad.mit.edu	37	chr9	93983132	93983132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaggccttcctgtaggcCgcgtctccctcctggttctg	10	16	2	0			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr9:93983132C>T	uc004arf.3	-	7	833	c.798G>A	c.(796-798)GCG>GCA	p.A266A	AUH_uc004arg.3_Silent_p.A237A	NM_001698	NP_001689	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-Coenzyme A	266					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding				0						TCCTGTAGGCCGCGTCTCCCT	0.463													T	93983132	C	T	93983132	2	4	113	1	0	0	0	0	0	0	0	1	1219	639	23	1		1	AUH	9	93983132	Silent	SNP	C	TCGA-BR-A453-01A-11D-A24D-08	58303829	93983132	47230299	40	74370											
CDC14B	8555	broad.mit.edu	37	chr9	99266039	99266039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacaggtttttacttaaCgcaagactgttttagtcctt	8	8	1	1	rs137968673		TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr9:99266039C>T	uc004awj.2	-	14	1945	c.1493G>A	c.(1492-1494)CGT>CAT	p.R498H	CDC14B_uc004awk.2_Missense_Mutation_p.R459H|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Missense_Mutation_p.R461H	NM_033331	NP_201588	O60729	CC14B_HUMAN	CDC14 homolog B isoform 2	498					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TTTTACTTAACGCAAGACTGT	0.388													T	99266039	C	T	99266039	3	4	113	1	0	0	0	0	1	0	0	0	3057	536	19	1	7	1	CDC14B	9	99266039	Missense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08	5282907	99266039	41947392	41	74371											
SARDH	1757	broad.mit.edu	37	chr9	136597555	136597555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcacacaccgacatgagcCtcttgtactcgtccaggcgc	10	15	1	1			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr9:136597555C>T	uc004cep.3	-	3	634	c.500G>A	c.(499-501)AGG>AAG	p.R167K	SARDH_uc004ceo.2_Missense_Mutation_p.R167K|SARDH_uc011mdn.1_Missense_Mutation_p.R167K|SARDH_uc011mdo.1_5'UTR	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	167					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CGACATGAGCCTCTTGTACTC	0.667													T	136597555	C	T	136597555	3	4	113	1	0	0	0	0	1	0	0	0	13841	681	24	4	2332	4	SARDH	9	136597555	Missense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08	37331516	136597555	4615876	42	74372											
GPR158	57512	broad.mit.edu	37	chr10	25886899	25886899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcgccgaccatggcacaGccaaaggcactgccctcatc	11	16	1	0			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr10:25886899G>A	uc001isj.2	+	11	2404	c.2344G>A	c.(2344-2346)GCC>ACC	p.A782T	GPR158_uc001isk.2_Missense_Mutation_p.A157T	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	782	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						CCATGGCACAGCCAAAGGCAC	0.562													A	25886899	G	A	25886899	3	1	113	1	0	0	0	0	1	0	0	0	6663	971	34	2	2386	2	GPR158	10	25886899	Missense_Mutation	SNP	G	TCGA-BR-A453-01A-11D-A24D-08		25886899	109647848	43	74373											
CCDC147	159686	broad.mit.edu	37	chr10	106159127	106159127	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctttgtcaggctgagctgCagaagctgagacaacaagcc	11	11	2	3			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr10:106159127C>A	uc001kyh.2	+	12	1818	c.1684C>A	c.(1684-1686)CAG>AAG	p.Q562K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	562	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GGCTGAGCTGCAGAAGCTGAG	0.468													A	106159127	C	A	106159127	3	1	113	1	0	0	0	0	1	0	0	0	2781	711	25	5	1730	5	CCDC147	10	106159127	Missense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08	80272228	106159127	29375620	44	74374											
NAV2	89797	broad.mit.edu	37	chr11	20113856	20113856	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtgtccatctctgcctccccGaggcagtccatgggcctctc	10	17	2	0			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr11:20113856G>T	uc001mpr.3	+	28	6127	c.5766G>T	c.(5764-5766)CCG>CCT	p.P1922P	NAV2_uc001mpp.2_Silent_p.P1855P|NAV2_uc009yhx.2_Silent_p.P983P|NAV2_uc009yhz.2_Silent_p.P564P|NAV2_uc001mpu.2_Silent_p.P357P	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	1978						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						CTGCCTCCCCGAGGCAGTCCA	0.577													T	20113856	G	T	20113856	2	4	113	1	0	0	0	0	0	0	0	1	10184	1045	37	5		5	NAV2	11	20113856	Silent	SNP	G	TCGA-BR-A453-01A-11D-A24D-08		20113856	114892660	45	74375											
SLC5A12	159963	broad.mit.edu	37	chr11	26705362	26705362	+	Frame_Shift_Del	DEL	C	C	-													ataagcccagcattggtcctCcacacatgccgtgaatgctg							TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr11:26705362delC	uc001mra.2	-	11	1563	c.1250delG	c.(1249-1251)GGAfs	p.G417fs	SLC5A12_uc001mrb.2_RNA	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	417	Helical; (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)|skin(1)	2						CATTGGTCCTCCACACATGCC	0.502													-	26705362	C	-	26705362	7	5	113	1	0	1	0	1	0	0	0	0	14664	855	30	0	626	0	SLC5A12	11	26705362	Frame_Shift_Del	DEL	C	TCGA-BR-A453-01A-11D-A24D-08	6591506	26705362	108301154	46	74376											
GYLTL1B	120071	broad.mit.edu	37	chr11	45949117	45949117	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtgacattgacttcctgcCtgcctattctctctacgact	6	14	2	2			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr11:45949117C>A	uc001nbv.1	+	11	1688	c.1577C>A	c.(1576-1578)CCT>CAT	p.P526H	GYLTL1B_uc001nbw.1_Missense_Mutation_p.P495H|GYLTL1B_uc001nbx.1_Missense_Mutation_p.P526H|GYLTL1B_uc001nby.1_Missense_Mutation_p.P209H|GYLTL1B_uc001nbz.1_5'Flank	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	526	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)		GACTTCCTGCCTGCCTATTCT	0.607													A	45949117	C	A	45949117	3	1	113	1	0	0	0	0	1	0	0	0	6907	681	24	5	1615	5	GYLTL1B	11	45949117	Missense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08	19243755	45949117	89057399	47	74377											
KRT76	51350	broad.mit.edu	37	chr12	53169377	53169377	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccttgttctgctgttccaGgaaccgcacctgcatgaaag	10	12	1	1			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr12:53169377G>T	uc001sax.2	-	2	664	c.610C>A	c.(610-612)CTG>ATG	p.L204M		NM_015848	NP_056932	Q01546	K22O_HUMAN	keratin 76	204	Coil 1A.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|skin(1)	2						TGCTGTTCCAGGAACCGCACC	0.567													T	53169377	G	T	53169377	3	4	113	1	0	0	0	0	1	0	0	0	8489	991	35	5	1338	5	KRT76	12	53169377	Missense_Mutation	SNP	G	TCGA-BR-A453-01A-11D-A24D-08		53169377	80682518	48	74378											
DNAJC14	85406	broad.mit.edu	37	chr12	56221057	56221057	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcactgccagctgtctataGgccttcttcagttcaacatc	6	13	5	0			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr12:56221057G>T	uc001shx.1	-	2	1590	c.1386C>A	c.(1384-1386)GCC>GCA	p.A462A	DNAJC14_uc001shu.1_Silent_p.A462A|DNAJC14_uc009zob.1_Silent_p.A462A|DNAJC14_uc001shy.1_Silent_p.A462A	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	462	J.				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						GCTGTCTATAGGCCTTCTTCA	0.408													T	56221057	G	T	56221057	2	4	113	1	0	0	0	0	0	0	0	1	4633	987	35	5		5	DNAJC14	12	56221057	Silent	SNP	G	TCGA-BR-A453-01A-11D-A24D-08	3051680	56221057	77630838	49	74379											
MIP	4284	broad.mit.edu	37	chr12	56847476	56847476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggcaaagatgcagagcaCgaactggagcgtcaggaaga	15	7	1	3			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr12:56847476C>T	uc001slh.2	-	2	456	c.424G>A	c.(424-426)GTG>ATG	p.V142M		NM_012064	NP_036196	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	142	Helical; (By similarity).				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			skin(1)	1						ATGCAGAGCACGAACTGGAGC	0.607													T	56847476	C	T	56847476	3	4	113	1	0	0	0	0	1	0	0	0	9591	536	19	1	379	1	MIP	12	56847476	Missense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08	626419	56847476	77004419	50	74380											
PTPRB	5787	broad.mit.edu	37	chr12	70956659	70956659	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagactcattagacagcTccccactgtgagttacaatc	7	11	1	4			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr12:70956659T>A	uc001swb.3	-	14	3509	c.3479A>T	c.(3478-3480)GAG>GTG	p.E1160V	PTPRB_uc010sto.1_Missense_Mutation_p.E1070V|PTPRB_uc010stp.1_Missense_Mutation_p.E1070V|PTPRB_uc001swc.3_Missense_Mutation_p.E1378V|PTPRB_uc001swa.3_Missense_Mutation_p.E1290V|PTPRB_uc001swd.3_Missense_Mutation_p.E1377V|PTPRB_uc009zrr.1_Missense_Mutation_p.E1257V	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1160	Fibronectin type-III 13.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATTAGACAGCTCCCCACTGTG	0.463													A	70956659	T	A	70956659	3	1	113	1	0	0	0	0	1	0	0	0	12796	1551	54	5	2590	5	PTPRB	12	70956659	Missense_Mutation	SNP	T	TCGA-BR-A453-01A-11D-A24D-08	14109183	70956659	62895236	51	74381											
PPFIA2	8499	broad.mit.edu	37	chr12	81741521	81741521	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatttcttcagcacgcaactCtgtagattctttttcttcct	4	11	5	1			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr12:81741521C>T	uc001szo.1	-	18	2184	c.2023G>A	c.(2023-2025)GAG>AAG	p.E675K	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	601										ovary(3)|lung(2)|pancreas(1)	6						GCACGCAACTCTGTAGATTCT	0.398													T	81741521	C	T	81741521	3	4	113	1	0	0	0	0	1	0	0	0	12310	922	32	4	1810	4	PPFIA2	12	81741521	Missense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08	10784862	81741521	52110374	52	74382											
C14orf1	11161	broad.mit.edu	37	chr14	76118161	76118161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caatcgtgggagctgcagttCcatagacaaacaactcagag	10	10	1	2			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr14:76118161C>T	uc001xrt.2	-	4	742	c.296G>A	c.(295-297)GGA>GAA	p.G99E	C14orf1_uc001xru.2_RNA	NM_007176	NP_009107	Q9UKR5	ERG28_HUMAN	ergosterol biosynthetic protein 28	99	Helical; (Potential).				sterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|transport vesicle					0		all_epithelial(191;0.125)|all_neural(303;0.13)|Myeloproliferative disorder(585;0.163)		BRCA - Breast invasive adenocarcinoma(234;0.00147)		AGCTGCAGTTCCATAGACAAA	0.542													T	76118161	C	T	76118161	3	4	113	1	0	0	0	0	1	0	0	0	1733	855	30	4	134	4	C14orf1	14	76118161	Missense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08		76118161	31231379	53	74383											
RYR3	6263	broad.mit.edu	37	chr15	34078174	34078174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaggcctcctggatgaagCgcattgcaggtaccgacccc	12	13	0	2			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr15:34078174C>T	uc001zhi.2	+	66	9650	c.9580C>T	c.(9580-9582)CGC>TGC	p.R3194C	RYR3_uc010bar.2_Missense_Mutation_p.R3194C	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3194					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGGATGAAGCGCATTGCAGG	0.493													T	34078174	C	T	34078174	3	4	113	1	0	0	0	0	1	0	0	0	13770	768	27	1	9842	1	RYR3	15	34078174	Missense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08		34078174	68453218	54	74384											
HCN4	10021	broad.mit.edu	37	chr15	73616535	73616535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgctcagcgagtagaggcGgcagtaggtgtcggccctca	15	12	2	1			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr15:73616535G>A	uc002avp.2	-	7	3032	c.2038C>T	c.(2038-2040)CGC>TGC	p.R680C		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	680	Cytoplasmic (Potential).|cAMP.				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		GAGTAGAGGCGGCAGTAGGTG	0.647													A	73616535	G	A	73616535	3	1	113	1	0	0	0	0	1	0	0	0	6999	1116	39	1	1581	1	HCN4	15	73616535	Missense_Mutation	SNP	G	TCGA-BR-A453-01A-11D-A24D-08	39538361	73616535	28914857	55	74385											
PTX4	390667	broad.mit.edu	37	chr16	1537353	1537353	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gggggaccatgcctgctgccGagggtcttttggggcagtcc	17	11	1	0	rs140959519	by1000genomes	TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr16:1537353G>T	uc010uvf.1	-	2	745	c.745C>A	c.(745-747)CGG>AGG	p.R249R		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	neuronal pentraxin II-like	254						extracellular region	metal ion binding				0						GCCTGCTGCCGAGGGTCTTTT	0.677													T	1537353	G	T	1537353	2	4	113	1	0	0	0	0	0	0	0	1	12823	1057	37	5		5	PTX4	16	1537353	Silent	SNP	G	TCGA-BR-A453-01A-11D-A24D-08		1537353	88817400	56	74386											
IRX6	79190	broad.mit.edu	37	chr16	55363168	55363168	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccgctgaactgtgcgccGtgcccgcggaggagcgagcc	15	15	0	1			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr16:55363168G>A	uc002ehy.2	+	5	1811	c.1278G>A	c.(1276-1278)CCG>CCA	p.P426P	IRX6_uc002ehx.2_Silent_p.P426P	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	426						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						ACTGTGCGCCGTGCCCGCGGA	0.617													A	55363168	G	A	55363168	2	1	113	1	0	0	0	0	0	0	0	1	7848	1132	40	1		1	IRX6	16	55363168	Silent	SNP	G	TCGA-BR-A453-01A-11D-A24D-08	53825815	55363168	34991585	57	74387											
SLC12A4	6560	broad.mit.edu	37	chr16	67986303	67986303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcacccgatgggtaaaaaAtggcagctggtggggcaatg	16	7	0	0			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr16:67986303A>G	uc002euz.2	-	7	842	c.701T>C	c.(700-702)ATT>ACT	p.I234T	SLC12A4_uc010ceu.2_Missense_Mutation_p.I228T|SLC12A4_uc010vkh.1_Missense_Mutation_p.I203T|SLC12A4_uc010vki.1_Missense_Mutation_p.I234T|SLC12A4_uc010vkj.1_Missense_Mutation_p.I236T|SLC12A4_uc002eva.2_Missense_Mutation_p.I234T|SLC12A4_uc002evb.2_RNA|SLC12A4_uc010cew.1_Missense_Mutation_p.F156L	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	234	Helical; (Potential).				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGGGTAAAAAATGGCAGCTGG	0.428													G	67986303	A	G	67986303	3	3	113	1	0	0	0	0	1	0	0	0	14385	101	4	3	2628	3	SLC12A4	16	67986303	Missense_Mutation	SNP	A	TCGA-BR-A453-01A-11D-A24D-08	12623135	67986303	22368450	58	74388											
CDH1	999	broad.mit.edu	37	chr16	68847398	68847398	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcattttgaaaacagcaaaGgtttgtatggtacctggcaa	11	6	0	1			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr16:68847398G>T	uc002ewg.1	+	9	1444	c.1320G>T	c.(1318-1320)AAG>AAT	p.K440N	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Intron	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	440	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(5)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AAACAGCAAAGGTTTGTATGG	0.458			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				T	68847398	G	T	68847398	3	4	113	1	0	0	0	0	1	0	0	0	3095	1014	35	5	1354	5	CDH1	16	68847398	Missense_Mutation	SNP	G	TCGA-BR-A453-01A-11D-A24D-08	861095	68847398	21507355	59	74389											
DNAH2	146754	broad.mit.edu	37	chr17	7646393	7646393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacaaggattgcattcggCggttggataccccattgctg	13	9	0	0			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr17:7646393C>T	uc002giu.1	+	11	1851	c.1837C>T	c.(1837-1839)CGG>TGG	p.R613W	DNAH2_uc002git.2_Missense_Mutation_p.R695W|DNAH2_uc010vuk.1_Missense_Mutation_p.R613W	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	613	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGCATTCGGCGGTTGGATAC	0.527													T	7646393	C	T	7646393	3	4	113	1	0	0	0	0	1	0	0	0	4602	759	27	1	1879	1	DNAH2	17	7646393	Missense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08		7646393	73548817	60	74390											
ODF4	146852	broad.mit.edu	37	chr17	8243564	8243564	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagcgccagaactctccGctgccctttcaatggagaat	10	14	2	2	rs144163492	byFrequency	TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr17:8243564G>A	uc002gle.1	+	1	377	c.195G>A	c.(193-195)CCG>CCA	p.P65P		NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	65					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)	1						AGAACTCTCCGCTGCCCTTTC	0.582													A	8243564	G	A	8243564	2	1	113	1	0	0	0	0	0	0	0	1	10833	1074	38	1		1	ODF4	17	8243564	Silent	SNP	G	TCGA-BR-A453-01A-11D-A24D-08	597171	8243564	72951646	61	74391											
PIK3R6	146850	broad.mit.edu	37	chr17	8706636	8706636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgggcatcagaaggggCttgggcttggctttgattgc	16	6	1	3			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr17:8706636C>T	uc002glq.1	-	21	2460	c.2220G>A	c.(2218-2220)AAG>AAA	p.K740K	PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	740					platelet activation	cytosol					0						TCAGAAGGGGCTTGGGCTTGG	0.562													T	8706636	C	T	8706636	2	4	113	1	0	0	0	0	0	0	0	1	11923	796	28	2		2	PIK3R6	17	8706636	Silent	SNP	C	TCGA-BR-A453-01A-11D-A24D-08	463072	8706636	72488574	62	74392											
KIAA0100	9703	broad.mit.edu	37	chr17	26961821	26961821	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagagctcctcaattttgcgGgcaggcaacaactccccatg	9	13	1	1			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr17:26961821G>A	uc002hbu.2	-	16	2883	c.2784C>T	c.(2782-2784)GCC>GCT	p.A928A		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	928						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					CAATTTTGCGGGCAGGCAACA	0.517													A	26961821	G	A	26961821	2	1	113	1	0	0	0	0	0	0	0	1	8154	1219	43	4		4	KIAA0100	17	26961821	Silent	SNP	G	TCGA-BR-A453-01A-11D-A24D-08	18255185	26961821	54233389	63	74393											
LRRC37A3	374819	broad.mit.edu	37	chr17	62856783	62856783	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactctattcagtctctgccGgtttttgcctacagtttgaa	8	10	3	1			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr17:62856783G>T	uc002jey.2	-	11	4012	c.3481C>A	c.(3481-3483)CGG>AGG	p.R1161R	LRRC37A3_uc010wqg.1_Silent_p.R279R|LRRC37A3_uc002jex.1_Silent_p.R138R|LRRC37A3_uc010wqf.1_Silent_p.R199R|LRRC37A3_uc010dek.1_Silent_p.R167R	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1161	Extracellular (Potential).|LRR 11.					integral to membrane					0						AGTCTCTGCCGGTTTTTGCCT	0.493													T	62856783	G	T	62856783	2	4	113	1	0	0	0	0	0	0	0	1	8993	1115	39	5		5	LRRC37A3	17	62856783	Silent	SNP	G	TCGA-BR-A453-01A-11D-A24D-08	35894962	62856783	18338427	64	74394											
ALPK2	115701	broad.mit.edu	37	chr18	56246747	56246747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgtggggatgagggacCgtgcttggagactctgctgc	17	7	1	2	rs150536488		TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr18:56246747C>T	uc002lhj.3	-	4	1475	c.1261G>A	c.(1261-1263)GGT>AGT	p.G421S		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	421							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						GATGAGGGACCGTGCTTGGAG	0.557											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	56246747	C	T	56246747	3	4	113	1	0	0	0	0	1	0	0	0	545	652	23	1	5291	1	ALPK2	18	56246747	Missense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08		56246747	21830501	65	74395											
ZNF44	51710	broad.mit.edu	37	chr19	12384413	12384413	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatatggtttctctccagtGtgagttctttcatgcatacg	8	9	4	1			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr19:12384413G>A	uc010xmj.1	-	5	1006	c.801C>T	c.(799-801)CAC>CAT	p.H267H	ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Silent_p.H219H	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	zinc finger protein 44 isoform 1	267	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TCTCTCCAGTGTGAGTTCTTT	0.393													A	12384413	G	A	12384413	2	1	113	1	0	0	0	0	0	0	0	1	17909	1368	48	4		4	ZNF44	19	12384413	Silent	SNP	G	TCGA-BR-A453-01A-11D-A24D-08		12384413	46744570	66	74396											
PSG1	5669	broad.mit.edu	37	chr19	43372328	43372328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagagcaaacatagagccCgctatgctttgtagtaatat	8	8	0	2			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr19:43372328C>T	uc002ovb.2	-	5	1306	c.1168G>A	c.(1168-1170)GGG>AGG	p.G390R	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Intron|PSG1_uc002our.1_Missense_Mutation_p.G390R|PSG1_uc010eio.1_Missense_Mutation_p.G390R|PSG1_uc002oux.1_Missense_Mutation_p.G319R|PSG1_uc002ouy.1_Missense_Mutation_p.G297R|PSG1_uc002ouz.1_Missense_Mutation_p.G390R|PSG1_uc002ova.1_Missense_Mutation_p.G297R|PSG1_uc002ovc.2_Missense_Mutation_p.G297R|PSG1_uc002ovd.1_Missense_Mutation_p.G390R	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	390	Ig-like C2-type 3.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				ACATAGAGCCCGCTATGCTTT	0.468													T	43372328	C	T	43372328	3	4	113	1	0	0	0	0	1	0	0	0	12653	652	23	1	152	1	PSG1	19	43372328	Missense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08	30987915	43372328	15756655	67	74397											
ZNF550	162972	broad.mit.edu	37	chr19	58058384	58058384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagaaggtgtgacctgcGtttgaaggccttcccacact	11	12	0	3			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr19:58058384G>A	uc002qpe.1	-	2	1105	c.1105C>T	c.(1105-1107)CGC>TGC	p.R369C	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN	zinc finger protein 550	410	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTGACCTGCGTTTGAAGGCC	0.493													A	58058384	G	A	58058384	3	1	113	1	0	0	0	0	1	0	0	0	17979	1145	40	1	44	1	ZNF550	19	58058384	Missense_Mutation	SNP	G	TCGA-BR-A453-01A-11D-A24D-08	14686056	58058384	1070599	68	74398											
RBM12	10137	broad.mit.edu	37	chr20	34243149	34243149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccccctacaatatgcacGcccccatcaggaatggtcaa	6	16	3	0			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr20:34243149G>A	uc002xdq.2	-	3	328	c.96C>T	c.(94-96)GGC>GGT	p.G32G	CPNE1_uc010zvj.1_5'Flank|CPNE1_uc002xde.2_5'UTR|CPNE1_uc002xdf.2_5'UTR|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_5'UTR|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_5'UTR|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_RNA|CPNE1_uc002xdo.1_RNA|CPNE1_uc002xdp.1_RNA|RBM12_uc002xdr.2_Silent_p.G32G|RBM12_uc002xds.2_Silent_p.G32G	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	32						nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CAATATGCACGCCCCCATCAG	0.517											OREG0004046	type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	34243149	G	A	34243149	2	1	113	1	0	0	0	0	0	0	0	1	13113	1074	38	1		1	RBM12	20	34243149	Silent	SNP	G	TCGA-BR-A453-01A-11D-A24D-08		34243149	28782371	69	74399											
CHD6	84181	broad.mit.edu	37	chr20	40084457	40084457	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taccttggcaaaagtggaccCtttcccctcagactggatgg	10	12	1	1			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr20:40084457C>A	uc002xka.1	-	19	3170	c.2992G>T	c.(2992-2994)GGG>TGG	p.G998W	CHD6_uc002xkd.2_Missense_Mutation_p.G976W	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	998					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				AAAGTGGACCCTTTCCCCTCA	0.483													A	40084457	C	A	40084457	3	1	113	1	0	0	0	0	1	0	0	0	3329	681	24	5	5231	5	CHD6	20	40084457	Missense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08	5841308	40084457	22941063	70	74400											
KRTAP26-1	388818	broad.mit.edu	37	chr21	31691948	31691948	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcattgggcacacagtctcCtatgggctggtaactattga	12	9	1	1			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr21:31691948C>A	uc002ynw.2	-	1	660	c.406G>T	c.(406-408)GGA>TGA	p.G136*		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	136						intermediate filament				ovary(1)	1						ACACAGTCTCCTATGGGCTGG	0.552													A	31691948	C	A	31691948	4	1	113	1	0	0	0	0	0	1	0	0	8543	690	24	5	230	5	KRTAP26-1	21	31691948	Nonsense_Mutation	SNP	C	TCGA-BR-A453-01A-11D-A24D-08		31691948	16437947	71	74401											
COL18A1	80781	broad.mit.edu	37	chr21	46875460	46875460	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccgatggctccctaccccTgtggctgccacatcctgctg	9	19	0	0			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr21:46875460T>C	uc011afs.1	+	1	37	c.16T>C	c.(16-18)TGT>CGT	p.C6R	COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Missense_Mutation_p.C6R	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	6					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCCCTACCCCTGTGGCTGCCA	0.672													C	46875460	T	C	46875460	3	2	113	1	0	0	0	0	1	0	0	0	3675	1580	55	3	132	3	COL18A1	21	46875460	Missense_Mutation	SNP	T	TCGA-BR-A453-01A-11D-A24D-08	15183512	46875460	1254435	72	74402											
ARFGAP3	26286	broad.mit.edu	37	chr22	43195060	43195060	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgacctgaattgaagtcacGactccattagcaaagacgga	9	10	1	4			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr22:43195060G>A	uc003bdd.2	-	15	1738	c.1518C>T	c.(1516-1518)GTC>GTT	p.V506V	ARFGAP3_uc010gzf.2_Silent_p.V462V	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating	506					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(1)	1						TTGAAGTCACGACTCCATTAG	0.527													A	43195060	G	A	43195060	2	1	113	1	0	0	0	0	0	0	0	1	851	1045	37	1		1	ARFGAP3	22	43195060	Silent	SNP	G	TCGA-BR-A453-01A-11D-A24D-08		43195060	8109506	73	74403											
SBF1	6305	broad.mit.edu	37	chr22	50900900	50900900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaaggtgcctccccaacCtcctgccacggcaccacacg	10	18	0	0			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr22:50900900C>T	uc003blh.2	-	19	2325	c.2130G>A	c.(2128-2130)GAG>GAA	p.E710E	SBF1_uc011arx.1_Silent_p.E374E|SBF1_uc003bli.2_Silent_p.E711E	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	710					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCCCCAACCTCCTGCCACG	0.587													T	50900900	C	T	50900900	2	4	113	1	0	0	0	0	0	0	0	1	13858	680	24	4		4	SBF1	22	50900900	Silent	SNP	C	TCGA-BR-A453-01A-11D-A24D-08	7705840	50900900	403666	74	74404											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686436	125686436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgaaccttcagatagtgCgccatcgagcgatacgtcgc	10	14	1	1			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chrX:125686436C>T	uc004eul.2	-	1	407	c.156G>A	c.(154-156)GCG>GCA	p.A52A		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	52										skin(3)|ovary(1)	4						TCAGATAGTGCGCCATCGAGC	0.711													T	125686436	C	T	125686436	2	4	113	1	0	0	0	0	0	0	0	1	4264	755	27	1		1	DCAF12L1	23	125686436	Silent	SNP	C	TCGA-BR-A453-01A-11D-A24D-08		125686436	29584124	75	74405											
CNGA2	1260	broad.mit.edu	37	chrX	150912737	150912737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggactgctggatgagaacGaagtggcaaccagcatggag	16	7	0	1			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chrX:150912737G>A	uc004fey.1	+	7	1986	c.1762G>A	c.(1762-1764)GAA>AAA	p.E588K		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	588	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GGATGAGAACGAAGTGGCAAC	0.547													A	150912737	G	A	150912737	3	1	113	1	0	0	0	0	1	0	0	0	3597	1059	37	1	1784	1	CNGA2	23	150912737	Missense_Mutation	SNP	G	TCGA-BR-A453-01A-11D-A24D-08	25226301	150912737	4357823	76	74406											
UBIAD1	29914	broad.mit.edu	37	chr1	11345936	11345936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcctcatcggccccacGttctcctacattctctacaa	4	18	3	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr1:11345936G>A	uc001asg.2	+	2	1099	c.765G>A	c.(763-765)ACG>ACA	p.T255T		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	255	Helical; (Potential).				menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		TCGGCCCCACGTTCTCCTACA	0.592													A	11345936	G	A	11345936	2	1	114	1	0	0	0	0	0	0	0	1	16882	1132	40	1		1	UBIAD1	1	11345936	Silent	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08		11345936	237904685	1	74407											
VPS13D	55187	broad.mit.edu	37	chr1	12337907	12337907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaatccagaagtgaccGtctgcaggtggaaatcaagg	13	7	2	4			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr1:12337907G>A	uc001atv.2	+	19	4403	c.4262G>A	c.(4261-4263)CGT>CAT	p.R1421H	VPS13D_uc001atw.2_Missense_Mutation_p.R1421H|VPS13D_uc001atx.2_Missense_Mutation_p.R609H	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1421					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGAAGTGACCGTCTGCAGGTG	0.493													A	12337907	G	A	12337907	3	1	114	1	0	0	0	0	1	0	0	0	17189	1145	40	1	4332	1	VPS13D	1	12337907	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	991971	12337907	236912714	2	74408											
DHRS3	9249	broad.mit.edu	37	chr1	12677213	12677213	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctgacgcccgatgcctctCccgccgccggtgatgaggac	13	16	1	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr1:12677213C>T	uc001auc.2	-	1	608	c.141G>A	c.(139-141)GGG>GGA	p.G47G	DHRS3_uc001aub.2_5'Flank|DHRS3_uc009vnm.2_Silent_p.G47G|DHRS3_uc001aud.3_Silent_p.G47G	NM_004753	NP_004744	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	47					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			skin(1)	1	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CGATGCCTCTCCCGCCGCCGG	0.692													T	12677213	C	T	12677213	2	4	114	1	0	0	0	0	0	0	0	1	4491	842	30	4		4	DHRS3	1	12677213	Silent	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	339306	12677213	236573408	3	74409											
PRDM2	7799	broad.mit.edu	37	chr1	14108601	14108601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcaattcttcagaaaaaCaaatctgcaaagcagaaggc	7	8	3	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr1:14108601C>T	uc001avi.2	+	8	5167	c.4311C>T	c.(4309-4311)AAC>AAT	p.N1437N	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.N1437N|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.N1236N|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1437	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTCAGAAAAACAAATCTGCAA	0.383													T	14108601	C	T	14108601	2	4	114	1	0	0	0	0	0	0	0	1	12458	477	17	4		4	PRDM2	1	14108601	Silent	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	1431388	14108601	235142020	4	74410											
CROCC	9696	broad.mit.edu	37	chr1	17264229	17264229	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcactgagaagcttgaggcCctggtgagctgcaggtgccc	14	12	1	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr1:17264229C>T	uc001azt.2	+	10	1356	c.1287C>T	c.(1285-1287)GCC>GCT	p.A429A	CROCC_uc009voy.1_Silent_p.A132A|CROCC_uc009voz.1_Silent_p.A192A|CROCC_uc001azu.2_5'Flank	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	429	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGCTTGAGGCCCTGGTGAGCT	0.612													T	17264229	C	T	17264229	2	4	114	1	0	0	0	0	0	0	0	1	3893	610	22	4		4	CROCC	1	17264229	Silent	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	3155628	17264229	231986392	5	74411											
ATP13A2	23400	broad.mit.edu	37	chr1	17331968	17331968	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggcttccaacggaagagCagcaaagggatcccagccat	13	11	0	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr1:17331968C>T	uc001baa.2	-	3	379	c.189G>A	c.(187-189)CTG>CTA	p.L63L	ATP13A2_uc001bab.2_Silent_p.L63L|ATP13A2_uc001bac.2_Silent_p.L63L	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	63	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AACGGAAGAGCAGCAAAGGGA	0.612													T	17331968	C	T	17331968	2	4	114	1	0	0	0	0	0	0	0	1	1124	697	25	2		2	ATP13A2	1	17331968	Silent	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	67739	17331968	231918653	6	74412											
LUZP1	7798	broad.mit.edu	37	chr1	23415425	23415425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggcctggttggccgtaatCgttcctcggcccgtactcgc	13	14	0	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr1:23415425C>T	uc001bgk.2	-	5	3578	c.3194G>A	c.(3193-3195)CGA>CAA	p.R1065Q	LUZP1_uc010odv.1_Missense_Mutation_p.R1065Q	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	1065						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TGGCCGTAATCGTTCCTCGGC	0.617													T	23415425	C	T	23415425	3	4	114	1	0	0	0	0	1	0	0	0	9086	884	31	1	40	1	LUZP1	1	23415425	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	6083457	23415425	225835196	7	74413											
RPS6KA1	6195	broad.mit.edu	37	chr1	26888072	26888072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctggacaagatcctgcGgcagaagttcttctcagagc	12	11	2	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr1:26888072G>A	uc001bmr.1	+	17	1671	c.1508G>A	c.(1507-1509)CGG>CAG	p.R503Q	RPS6KA1_uc010ofe.1_Missense_Mutation_p.R411Q|RPS6KA1_uc010off.1_Missense_Mutation_p.R487Q|RPS6KA1_uc001bms.1_Missense_Mutation_p.R512Q|RPS6KA1_uc009vsl.1_Missense_Mutation_p.R346Q	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	503	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AAGATCCTGCGGCAGAAGTTC	0.572													A	26888072	G	A	26888072	3	1	114	1	0	0	0	0	1	0	0	0	13650	1116	39	1	1713	1	RPS6KA1	1	26888072	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	3472647	26888072	222362549	8	74414											
BMP8B	656	broad.mit.edu	37	chr1	40253912	40253912	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcgtcgccggccatggcGtggtacaggtccagcatgaa	14	12	0	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr1:40253912G>A	uc001cdz.1	-	1	622	c.246C>T	c.(244-246)CAC>CAT	p.H82H	BMP8B_uc001cea.1_Silent_p.H82H	NM_001720	NP_001711	P34820	BMP8B_HUMAN	bone morphogenetic protein 8B preproprotein	82					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity				0	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGGCCATGGCGTGGTACAGGT	0.338													A	40253912	G	A	40253912	2	1	114	1	0	0	0	0	0	0	0	1	1467	1136	40	1		1	BMP8B	1	40253912	Silent	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	13365840	40253912	208996709	9	74415											
MUTYH	4595	broad.mit.edu	37	chr1	45799143	45799143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accagcttagcaggctccctCggaaggctgtgacttcagct	11	13	1	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr1:45799143C>T	uc001cnm.2	-	3	497	c.281G>A	c.(280-282)CGA>CAA	p.R94Q	MUTYH_uc009vxn.2_Intron|MUTYH_uc001cnf.2_Missense_Mutation_p.R69Q|MUTYH_uc009vxo.2_Missense_Mutation_p.R69Q|MUTYH_uc001cng.2_Missense_Mutation_p.R80Q|MUTYH_uc001cnj.2_5'UTR|MUTYH_uc001cni.2_Missense_Mutation_p.R69Q|MUTYH_uc001cnh.2_Missense_Mutation_p.R70Q|MUTYH_uc001cno.2_5'UTR|MUTYH_uc001cnk.2_5'UTR|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Missense_Mutation_p.R83Q|MUTYH_uc009vxp.2_Missense_Mutation_p.R97Q|MUTYH_uc001cnn.2_Missense_Mutation_p.R84Q	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	mutY homolog isoform 1	94					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding				0	Acute lymphoblastic leukemia(166;0.155)					CAGGCTCCCTCGGAAGGCTGT	0.607			Mis			colorectal		BER_DNA_glycosylases	MUTYH-associated_polyposis				T	45799143	C	T	45799143	3	4	114	1	0	0	0	0	1	0	0	0	9993	884	31	1	1415	1	MUTYH	1	45799143	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	5545231	45799143	203451478	10	74416											
FNDC7	163479	broad.mit.edu	37	chr1	109265047	109265047	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acgggcagaaggagctttcaAttatactgtgatggctttga	12	6	1	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr1:109265047A>T	uc001dvx.2	+	5	689	c.689A>T	c.(688-690)AAT>ATT	p.N230I	FNDC7_uc010ova.1_5'UTR	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	231	Fibronectin type-III 3.					extracellular region				ovary(1)|skin(1)	2		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GGAGCTTTCAATTATACTGTG	0.488													T	109265047	A	T	109265047	3	4	114	1	0	0	0	0	1	0	0	0	5973	101	4	5	707	5	FNDC7	1	109265047	Missense_Mutation	SNP	A	TCGA-BR-A4CQ-01A-12D-A25D-08	63465904	109265047	139985574	11	74417											
HRNR	388697	broad.mit.edu	37	chr1	152188248	152188248	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagaaccagacccatgtcGgccacggctagggctaggag	13	14	0	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr1:152188248G>A	uc001ezt.1	-	3	5933	c.5857C>T	c.(5857-5859)CGA>TGA	p.R1953*		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1953	22.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCATGTCGGCCACGGCTA	0.612													A	152188248	G	A	152188248	4	1	114	1	0	0	0	0	0	1	0	0	7359	1124	39	1	2699	1	HRNR	1	152188248	Nonsense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	42923201	152188248	97062373	12	74418											
SPRR1B	6699	broad.mit.edu	37	chr1	153005026	153005026	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagccatgccaccccaagGtgcctgagccctgcccttca	9	18	1	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr1:153005026G>T	uc001fba.2	+	2	269	c.205G>T	c.(205-207)GTG>TTG	p.V69L	SPRR1B_uc009wnx.1_RNA	NM_003125	NP_003116	P22528	SPR1B_HUMAN	small proline-rich protein 1B	69	5.|6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(1)	1	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACCCCAAGGTGCCTGAGCC	0.627													T	153005026	G	T	153005026	3	4	114	1	0	0	0	0	1	0	0	0	15095	1261	44	5	207	5	SPRR1B	1	153005026	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	816778	153005026	96245595	13	74419											
SPTA1	6708	broad.mit.edu	37	chr1	158627279	158627279	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caccttaccccagctgcttcTtcatcagcaccatagttagt	5	15	3	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr1:158627279T>G	uc001fst.1	-	19	2992	c.2793A>C	c.(2791-2793)GAA>GAC	p.E931D		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	931	Spectrin 10.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CAGCTGCTTCTTCATCAGCAC	0.448													G	158627279	T	G	158627279	3	3	114	1	0	0	0	0	1	0	0	0	15115	1606	56	5	4602	5	SPTA1	1	158627279	Missense_Mutation	SNP	T	TCGA-BR-A4CQ-01A-12D-A25D-08	5622253	158627279	90623342	14	74420											
DCAF6	55827	broad.mit.edu	37	chr1	167944108	167944108	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggcaccgagcaaacatatTtagtgcaaagttcttacctt	8	9	1	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr1:167944108T>C	uc001gew.2	+	4	535	c.293T>C	c.(292-294)TTT>TCT	p.F98S	DCAF6_uc001gev.2_Missense_Mutation_p.F98S|DCAF6_uc001gex.2_Missense_Mutation_p.F98S|DCAF6_uc010plk.1_Missense_Mutation_p.F67S|DCAF6_uc001gey.2_5'UTR	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform b	98	WD 2.				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GCAAACATATTTAGTGCAAAG	0.343													C	167944108	T	C	167944108	3	2	114	1	0	0	0	0	1	0	0	0	4274	1841	64	3	307	3	DCAF6	1	167944108	Missense_Mutation	SNP	T	TCGA-BR-A4CQ-01A-12D-A25D-08	9316829	167944108	81306513	15	74421											
RGS18	64407	broad.mit.edu	37	chr1	192153619	192153619	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaacaaatcttaggagaCgatcacgctcatttacctgc	7	12	3	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr1:192153619C>T	uc001gsg.2	+	5	819	c.643C>T	c.(643-645)CGA>TGA	p.R215*		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	regulator of G-protein signalling 18	215					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)	3						TCTTAGGAGACGATCACGCTC	0.358													T	192153619	C	T	192153619	4	4	114	1	0	0	0	0	0	1	0	0	13300	528	19	1	661	1	RGS18	1	192153619	Nonsense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	24209511	192153619	57097002	16	74422											
KCNT2	343450	broad.mit.edu	37	chr1	196250003	196250003	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccaaacctcagatgtagtaAgtttctgagactcagtcctg	8	10	3	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr1:196250003A>T	uc001gtd.1	-	25	2957	c.2897T>A	c.(2896-2898)CTT>CAT	p.L966H	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.L892H|KCNT2_uc001gtf.1_Missense_Mutation_p.L942H|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.L942H|KCNT2_uc001gth.1_Missense_Mutation_p.L463H	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	966	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						AGATGTAGTAAGTTTCTGAGA	0.328													T	196250003	A	T	196250003	3	4	114	1	0	0	0	0	1	0	0	0	8092	72	3	5	526	5	KCNT2	1	196250003	Missense_Mutation	SNP	A	TCGA-BR-A4CQ-01A-12D-A25D-08	4096384	196250003	53000618	17	74423											
CFH	3075	broad.mit.edu	37	chr1	196684775	196684775	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaactaaaaatgacttcacAtggtttaagctgaatgacac	7	7	1	4			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr1:196684775A>G	uc001gtj.3	+	11	1812	c.1572A>G	c.(1570-1572)ACA>ACG	p.T524T		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	524	Sushi 9.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						atgacttcacatggtttaagc	0.254													G	196684775	A	G	196684775	2	3	114	1	0	0	0	0	0	0	0	1	3283	204	8	3		3	CFH	1	196684775	Silent	SNP	A	TCGA-BR-A4CQ-01A-12D-A25D-08	434772	196684775	52565846	18	74424											
CFHR5	81494	broad.mit.edu	37	chr1	196971772	196971772	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatgtaaagatggacgatgGcaatcattaccacgctgtgt	11	7	1	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr1:196971772G>A	uc001gts.3	+	8	1436	c.1308G>A	c.(1306-1308)TGG>TGA	p.W436*		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	436	Sushi 7.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						ATGGACGATGGCAATCATTAC	0.333													A	196971772	G	A	196971772	4	1	114	1	0	0	0	0	0	1	0	0	3288	1212	42	2	1338	2	CFHR5	1	196971772	Nonsense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	286997	196971772	52278849	19	74425											
C1orf107	27042	broad.mit.edu	37	chr1	210012275	210012275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgatagtggtgccattcCgggaagctgctttgcgggtg	15	8	0	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr1:210012275C>T	uc001hhr.1	+	7	1160	c.1084C>T	c.(1084-1086)CGG>TGG	p.R362W	C1orf107_uc009xcu.1_Missense_Mutation_p.R77W	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	digestive-organ expansion factor homolog	362					multicellular organismal development	nucleus					0				OV - Ovarian serous cystadenocarcinoma(81;0.0367)		GGTGCCATTCCGGGAAGCTGC	0.512													T	210012275	C	T	210012275	3	4	114	1	0	0	0	0	1	0	0	0	1981	643	23	1	1110	1	C1orf107	1	210012275	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	13040503	210012275	39238346	20	74426											
RPS6KC1	26750	broad.mit.edu	37	chr1	213415473	213415475	+	In_Frame_Del	DEL	TTT	TTT	-													agacaaggaaatacatcagaTttttgaggaccttgataaaa							TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr1:213415472_213415474ATTT>A	uc010ptr.2	+	10	2812_2814	c.2653_2655ATTT>A	c.(2653-2655)att>A	p.I885del	RPS6KC1_uc001hkd.3_In_Frame_Del_p.I873del|RPS6KC1_uc010pts.2_In_Frame_Del_p.I673del|RPS6KC1_uc010ptt.2_In_Frame_Del_p.I673del|RPS6KC1_uc010ptu.2_In_Frame_Del_p.I704del|RPS6KC1_uc010ptv.2_In_Frame_Del_p.I420del|RPS6KC1_uc001hke.3_In_Frame_Del_p.I704del	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	885	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AATACATCAGATTTTTGAGGACC	0.429													-	213415475	TTT	-	213415473	7	5	114	1	0	1	0	1	0	0	0	0	13658	1493	52	0	2696	0	RPS6KC1	1	213415473	In_Frame_Del	DEL	TTT	TCGA-BR-A4CQ-01A-12D-A25D-08	3403198	213415473	35835148	21	74427											
USH2A	7399	broad.mit.edu	37	chr1	216462716	216462716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggatctgcaccaacttgtCggaaaaagtaatccttgcac	8	10	1	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr1:216462716C>T	uc001hku.1	-	11	2264	c.1877G>A	c.(1876-1878)CGA>CAA	p.R626Q	USH2A_uc001hkv.2_Missense_Mutation_p.R626Q	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	626	Laminin EGF-like 2.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCAACTTGTCGGAAAAAGTA	0.413										HNSCC(13;0.011)			T	216462716	C	T	216462716	3	4	114	1	0	0	0	0	1	0	0	0	17033	884	31	1	13993	1	USH2A	1	216462716	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	3047243	216462716	32787905	22	74428											
NUP133	55746	broad.mit.edu	37	chr1	229619858	229619858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttatcttcctgggctataGtttcattctttgtagtggtc	8	7	3	0	rs144974683		TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr1:229619858G>A	uc001htn.2	-	12	1627	c.1535C>T	c.(1534-1536)ACT>ATT	p.T512I		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	512					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CTGGGCTATAGTTTCATTCTT	0.313													A	229619858	G	A	229619858	3	1	114	1	0	0	0	0	1	0	0	0	10754	1029	36	4	1995	4	NUP133	1	229619858	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	13157142	229619858	19630763	23	74429											
ALK	238	broad.mit.edu	37	chr2	29462633	29462633	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatgcccagcacagacacGccgtgggaccgcatcatggt	12	13	1	2	rs149853746	byFrequency	TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr2:29462633G>A	uc002rmy.2	-	13	3175	c.2268C>T	c.(2266-2268)GGC>GGT	p.G756G		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	756	Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCACAGACACGCCGTGGGACC	0.602			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				A	29462633	G	A	29462633	2	1	114	1	0	0	0	0	0	0	0	1	525	1074	38	1		1	ALK	2	29462633	Silent	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08		29462633	213736740	24	74430											
PRKCE	5581	broad.mit.edu	37	chr2	46411945	46411945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtactcacccttgtggaCgaagcaattgtaaagcagat	10	10	1	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr2:46411945C>T	uc002rut.2	+	15	2336	c.2139C>T	c.(2137-2139)GAC>GAT	p.D713D		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	713	AGC-kinase C-terminal.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CCCTTGTGGACGAAGCAATTG	0.468													T	46411945	C	T	46411945	2	4	114	1	0	0	0	0	0	0	0	1	12511	535	19	1		1	PRKCE	2	46411945	Silent	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	16949312	46411945	196787428	25	74431											
SOCS5	9655	broad.mit.edu	37	chr2	46987047	46987047	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggacttttagaacattatAaagatcccagttcgtgcatg	9	8	0	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr2:46987047A>G	uc002rvf.2	+	2	1542	c.1378A>G	c.(1378-1380)AAA>GAA	p.K460E	SOCS5_uc010yoe.1_Missense_Mutation_p.K429E|SOCS5_uc002rvg.2_Missense_Mutation_p.K460E	NM_014011	NP_054730	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	460	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					ovary(1)|lung(1)|central_nervous_system(1)	3		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AGAACATTATAAAGATCCCAG	0.433													G	46987047	A	G	46987047	3	3	114	1	0	0	0	0	1	0	0	0	14917	363	13	3	1380	3	SOCS5	2	46987047	Missense_Mutation	SNP	A	TCGA-BR-A4CQ-01A-12D-A25D-08	575102	46987047	196212326	26	74432											
CTNNA2	1496	broad.mit.edu	37	chr2	80773040	80773040	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccaacaaataggtcatcaaTgccgctctgacactggctgc	8	13	3	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr2:80773040T>A	uc010ysh.1	+	10	1397	c.1392T>A	c.(1390-1392)AAT>AAA	p.N464K	CTNNA2_uc010yse.1_Missense_Mutation_p.N464K|CTNNA2_uc010ysf.1_Missense_Mutation_p.N464K|CTNNA2_uc010ysg.1_Missense_Mutation_p.N464K|CTNNA2_uc010ysi.1_Missense_Mutation_p.N96K	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	464					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						AGGTCATCAATGCCGCTCTGA	0.498													A	80773040	T	A	80773040	3	1	114	1	0	0	0	0	1	0	0	0	4013	1461	51	5	1222	5	CTNNA2	2	80773040	Missense_Mutation	SNP	T	TCGA-BR-A4CQ-01A-12D-A25D-08	33785993	80773040	162426333	27	74433											
C2orf68	388969	broad.mit.edu	37	chr2	85839180	85839180	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgcccacagagctccgcGccgccccttgctcagcttcc	8	22	1	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr2:85839180G>A	uc002sqc.2	-	1	1	c.-71_splice	c.e1-1		USP39_uc002sqb.2_Intron|USP39_uc010ysu.1_5'Flank|USP39_uc010ysv.1_5'Flank|C2orf68_uc002sqd.2_Splice_Site	NM_001013649	NP_001013671	Q2NKX9	CB068_HUMAN	hypothetical protein LOC388969											central_nervous_system(1)	1						AGAGCTCCGCGCCGCCCCTTG	0.736													A	85839180	G	A	85839180	5	1	114	1	0	0	0	0	0	0	1	0	2187	1102	38	1		1	C2orf68	2	85839180	Splice_Site	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	5066140	85839180	157360193	28	74434											
ADRA2B	151	broad.mit.edu	37	chr2	96780826	96780826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcagctgcgcccgtcgacGccaccactgcccacctatag	10	18	1	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr2:96780826G>A	uc002svi.2	-	3	1072	c.1072C>T	c.(1072-1074)CGT>TGT	p.R358C		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	358	Cytoplasmic (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GCCCGTCGACGCCACCACTGC	0.662													A	96780826	G	A	96780826	3	1	114	1	0	0	0	0	1	0	0	0	338	1087	38	1	284	1	ADRA2B	2	96780826	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	10941646	96780826	146418547	29	74435											
MAP4K4	9448	broad.mit.edu	37	chr2	102460759	102460759	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcagaaagaacagaggCgacggctagaagaggtagca	15	7	0	5			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr2:102460759C>T	uc002tbg.2	+	12	1274	c.1219C>T	c.(1219-1221)CGA>TGA	p.R407*	MAP4K4_uc002tbc.2_Nonsense_Mutation_p.R407*|MAP4K4_uc002tbd.2_Nonsense_Mutation_p.R407*|MAP4K4_uc002tbe.2_Nonsense_Mutation_p.R407*|MAP4K4_uc002tbf.2_Nonsense_Mutation_p.R407*|MAP4K4_uc010yvy.1_Nonsense_Mutation_p.R407*|MAP4K4_uc002tbh.2_Nonsense_Mutation_p.R407*|MAP4K4_uc002tbi.2_Nonsense_Mutation_p.R260*|MAP4K4_uc010yvz.1_Nonsense_Mutation_p.R387*|MAP4K4_uc002tbk.2_5'UTR|MAP4K4_uc002tbj.1_Nonsense_Mutation_p.R303*	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	407					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						AGAACAGAGGCGACGGCTAGA	0.468													T	102460759	C	T	102460759	4	4	114	1	0	0	0	0	0	1	0	0	9262	760	27	1	1265	1	MAP4K4	2	102460759	Nonsense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	5679933	102460759	140738614	30	74436											
ZC3H6	376940	broad.mit.edu	37	chr2	113088794	113088794	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttaggactatcccaaggcaaGacattagaaagccttctgag	9	9	1	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr2:113088794G>T	uc002thq.1	+	12	2693	c.2299G>T	c.(2299-2301)GAC>TAC	p.D767Y		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	767							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4						CCCAAGGCAAGACATTAGAAA	0.473													T	113088794	G	T	113088794	3	4	114	1	0	0	0	0	1	0	0	0	17568	942	33	5	2345	5	ZC3H6	2	113088794	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	10628035	113088794	130110579	31	74437											
CCDC74B	91409	broad.mit.edu	37	chr2	130897230	130897230	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcagtgcgggcaggatGgcacgctccgccacaggtgg	16	12	1	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr2:130897230G>A	uc002tqm.1	-	8	1103	c.1041C>T	c.(1039-1041)GCC>GCT	p.A347A	CCDC74B_uc010yzw.1_Silent_p.A449A|CCDC74B_uc002tqn.1_Silent_p.A281A	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	347											0	Colorectal(110;0.1)					CGGGCAGGATGGCACGCTCCG	0.642													A	130897230	G	A	130897230	2	1	114	1	0	0	0	0	0	0	0	1	2848	1335	47	4		4	CCDC74B	2	130897230	Silent	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	17808436	130897230	112302143	32	74438											
NCKAP5	344148	broad.mit.edu	37	chr2	133540023	133540023	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcagtcgcggttgcagagGcatctggatgccttccagaa	12	11	2	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr2:133540023G>T	uc002ttp.2	-	14	4735	c.4361C>A	c.(4360-4362)GCC>GAC	p.A1454D	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1454							protein binding				0						GGTTGCAGAGGCATCTGGATG	0.517													T	133540023	G	T	133540023	3	4	114	1	0	0	0	0	1	0	0	0	10223	1203	42	5	1396	5	NCKAP5	2	133540023	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	2642793	133540023	109659350	33	74439											
LCT	3938	broad.mit.edu	37	chr2	136566344	136566344	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgaacctcttctcttcCtcagtgaagcttggcaggcg	10	12	3	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr2:136566344C>A	uc002tuu.1	-	8	3584	c.3573G>T	c.(3571-3573)GAG>GAT	p.E1191D		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1191	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCTTCTCTTCCTCAGTGAAGC	0.532													A	136566344	C	A	136566344	3	1	114	1	0	0	0	0	1	0	0	0	8693	680	24	5	2250	5	LCT	2	136566344	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	3026321	136566344	106633029	34	74440											
TANC1	85461	broad.mit.edu	37	chr2	160086925	160086925	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccagcttccctcaccagctCaggctcttctggttctccat	6	18	5	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr2:160086925C>T	uc002uag.2	+	27	5262	c.4988C>T	c.(4987-4989)TCA>TTA	p.S1663L	TANC1_uc010zcm.1_3'UTR|TANC1_uc010fon.2_Missense_Mutation_p.S507L	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1663	Ser-rich.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						CTCACCAGCTCAGGCTCTTCT	0.552													T	160086925	C	T	160086925	3	4	114	1	0	0	0	0	1	0	0	0	15541	838	29	4	5091	4	TANC1	2	160086925	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	23520581	160086925	83112448	35	74441											
FAP	2191	broad.mit.edu	37	chr2	163029701	163029701	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagatagtctacatttctgaAatattctgctcttgccatca	5	9	5	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr2:163029701A>T	uc002ucd.2	-	24	2273	c.2065T>A	c.(2065-2067)TTC>ATC	p.F689I	FAP_uc010fpc.2_Missense_Mutation_p.F238I|FAP_uc010zct.1_Missense_Mutation_p.F664I|FAP_uc010fpd.2_Missense_Mutation_p.F168I	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	689	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3						ACATTTCTGAAATATTCTGCT	0.348													T	163029701	A	T	163029701	3	4	114	1	0	0	0	0	1	0	0	0	5673	14	1	5	229	5	FAP	2	163029701	Missense_Mutation	SNP	A	TCGA-BR-A4CQ-01A-12D-A25D-08	2942776	163029701	80169672	36	74442											
TTN	7273	broad.mit.edu	37	chr2	179432952	179432952	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagctttgtccatatctGttttcggcaaatattctaaa	6	8	2	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr2:179432952G>T	uc010zfg.1	-	275	70427	c.70203C>A	c.(70201-70203)AAC>AAA	p.N23401K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N17096K|TTN_uc010zfi.1_Missense_Mutation_p.N17029K|TTN_uc010zfj.1_Missense_Mutation_p.N16904K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24328							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E23401K(1)		ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCCATATCTGTTTTCGGCAA	0.413													T	179432952	G	T	179432952	3	4	114	1	0	0	0	0	1	0	0	0	16732	1368	48	5	30220	5	TTN	2	179432952	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	16403251	179432952	63766421	37	74443											
TTN	7273	broad.mit.edu	37	chr2	179452058	179452058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgtcacttggctcccacCgtcgttttcaggaggggccc	12	13	2	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr2:179452058C>T	uc010zfg.1	-	256	56400	c.56176G>A	c.(56176-56178)GGT>AGT	p.G18726S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G12421S|TTN_uc010zfi.1_Missense_Mutation_p.G12354S|TTN_uc010zfj.1_Missense_Mutation_p.G12229S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19653							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCTCCCACCGTCGTTTTCA	0.463													T	179452058	C	T	179452058	3	4	114	1	0	0	0	0	1	0	0	0	16732	652	23	1	44323	1	TTN	2	179452058	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	19106	179452058	63747315	38	74444											
TTN	7273	broad.mit.edu	37	chr2	179584366	179584366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcctttgtcactcatttcGgcacaggggattttaaggga	10	8	2	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr2:179584366G>A	uc010zfg.1	-	79	20345	c.20121C>T	c.(20119-20121)GCC>GCT	p.A6707A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.A3368A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7634							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTCATTTCGGCACAGGGGA	0.403													A	179584366	G	A	179584366	2	1	114	1	0	0	0	0	0	0	0	1	16732	1103	39	1		1	TTN	2	179584366	Silent	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	132308	179584366	63615007	39	74445											
PPP1R1C	151242	broad.mit.edu	37	chr2	182852605	182852605	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caccagcatcacttgtgattCtcaatgagcataacccccca	5	15	2	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr2:182852605C>A	uc002uoo.2	+	2	408	c.121C>A	c.(121-123)CTC>ATC	p.L41I	PPP1R1C_uc002uon.2_Intron|PPP1R1C_uc002uop.1_Missense_Mutation_p.L41I|PPP1R1C_uc010frm.1_Missense_Mutation_p.L48I|PPP1R1C_uc010frn.1_RNA	NM_001080545	NP_001074014	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor)	41					signal transduction	cytoplasm	protein phosphatase inhibitor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			ACTTGTGATTCTCAATGAGCA	0.413													A	182852605	C	A	182852605	3	1	114	1	0	0	0	0	1	0	0	0	12369	913	32	5	127	5	PPP1R1C	2	182852605	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	3268239	182852605	60346768	40	74446											
DNAH7	56171	broad.mit.edu	37	chr2	196729451	196729451	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaacaagacaaggttcatggGttttttgcttatattgttgt	9	4	1	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr2:196729451G>T	uc002utj.3	-	41	7029	c.6928C>A	c.(6928-6930)CCC>ACC	p.P2310T		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2310	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						AGGTTCATGGGTTTTTTGCTT	0.433													T	196729451	G	T	196729451	3	4	114	1	0	0	0	0	1	0	0	0	4606	1261	44	5	5246	5	DNAH7	2	196729451	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	13876846	196729451	46469922	41	74447											
CXCR7	57007	broad.mit.edu	37	chr2	237489880	237489880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagatcatcttctcctacGtggtggtcttccttgtctgc	10	11	5	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr2:237489880G>A	uc010fyq.2	+	3	1002	c.772G>A	c.(772-774)GTG>ATG	p.V258M	CXCR7_uc002vwd.2_Missense_Mutation_p.V258M	NM_020311	NP_064707	P25106	CXCR7_HUMAN	chemokine orphan receptor 1	258	Helical; Name=6; (Potential).				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		CTTCTCCTACGTGGTGGTCTT	0.577													A	237489880	G	A	237489880	3	1	114	1	0	0	0	0	1	0	0	0	4096	1145	40	1	774	1	CXCR7	2	237489880	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	40760429	237489880	5709493	42	74448											
RBM44	375316	broad.mit.edu	37	chr2	238726967	238726967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcacaattaatcagacagtgGacgttagcactgattttagg	9	7	2	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr2:238726967G>A	uc002vxi.3	+	3	1540	c.1408G>A	c.(1408-1410)GAC>AAC	p.D470N		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	469							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TCAGACAGTGGACGTTAGCAC	0.393													A	238726967	G	A	238726967	3	1	114	1	0	0	0	0	1	0	0	0	13138	1174	41	4	1414	4	RBM44	2	238726967	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	1237087	238726967	4472406	43	74449											
PER2	8864	broad.mit.edu	37	chr2	239161666	239161666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccagtgccaccctcagGggcttcctccagctgcagca	11	17	1	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr2:239161666G>A	uc002vyc.2	-	19	3235	c.2998C>T	c.(2998-3000)CCT>TCT	p.P1000S	PER2_uc010znv.1_Missense_Mutation_p.P1000S	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	1000					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCACCCTCAGGGGCTTCCTCC	0.672													A	239161666	G	A	239161666	3	1	114	1	0	0	0	0	1	0	0	0	11730	1232	43	4	789	4	PER2	2	239161666	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	434699	239161666	4037707	44	74450											
SATB1	6304	broad.mit.edu	37	chr3	18435984	18435984	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaagccacacgtgcaaaTaccgcctgggagattcctgc	9	12	0	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr3:18435984T>C	uc003cbh.2	-	7	2911	c.1176A>G	c.(1174-1176)GTA>GTG	p.V392V	SATB1_uc003cbi.2_Silent_p.V392V|SATB1_uc003cbj.2_Silent_p.V392V	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	392	CUT 1.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						CACGTGCAAATACCGCCTGGG	0.458													C	18435984	T	C	18435984	2	2	114	1	0	0	0	0	0	0	0	1	13853	1393	49	3		3	SATB1	3	18435984	Silent	SNP	T	TCGA-BR-A4CQ-01A-12D-A25D-08		18435984	179586446	45	74451											
CLEC3B	7123	broad.mit.edu	37	chr3	45077363	45077363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggccaacggcaagtggttcGacaagcgctgccgcgatcag	14	13	1	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr3:45077363G>A	uc003cok.3	+	3	652	c.556G>A	c.(556-558)GAC>AAC	p.D186N	CLEC3B_uc003col.2_Missense_Mutation_p.D144N	NM_003278	NP_003269	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	186	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAGTGGTTCGACAAGCGCTG	0.557													A	45077363	G	A	45077363	3	1	114	1	0	0	0	0	1	0	0	0	3511	1058	37	1	566	1	CLEC3B	3	45077363	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	26641379	45077363	152945067	46	74452											
LAMB2	3913	broad.mit.edu	37	chr3	49166009	49166009	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagttccaactctgcccattGctcagggacctgggaaaacg	10	13	2	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr3:49166009G>T	uc003cwe.2	-	15	2199	c.1900C>A	c.(1900-1902)CAA>AAA	p.Q634K	LAMB2_uc003cwf.1_Missense_Mutation_p.Q634K	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	634	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCTGCCCATTGCTCAGGGACC	0.582													T	49166009	G	T	49166009	3	4	114	1	0	0	0	0	1	0	0	0	8611	1328	46	5	3568	5	LAMB2	3	49166009	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	4088646	49166009	148856421	47	74453											
UBA7	7318	broad.mit.edu	37	chr3	49847040	49847040	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaagcagagtttccagtggcCaagagcccacgccacacagt	10	13	0	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr3:49847040C>G	uc003cxr.2	-	16	2194	c.2023G>C	c.(2023-2025)GGC>CGC	p.G675R		NM_003335	NP_003326	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	675					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)		TTCCAGTGGCCAAGAGCCCAC	0.552													G	49847040	C	G	49847040	3	3	114	1	0	0	0	0	1	0	0	0	16830	594	21	5	1051	5	UBA7	3	49847040	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	681031	49847040	148175390	48	74454											
GRM2	2912	broad.mit.edu	37	chr3	51749696	51749696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgtgtaccttacggcGtcttggtttgggcactgcct	14	10	1	0	rs150657954	byFrequency	TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr3:51749696G>A	uc010hlv.2	+	4	2146	c.1907G>A	c.(1906-1908)CGT>CAT	p.R636H	GRM2_uc003dbo.3_Missense_Mutation_p.R18H|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	636	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	ACCTTACGGCGTCTTGGTTTG	0.592													A	51749696	G	A	51749696	3	1	114	1	0	0	0	0	1	0	0	0	6797	1145	40	1	1917	1	GRM2	3	51749696	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	1902656	51749696	146272734	49	74455											
ADAMTS9	56999	broad.mit.edu	37	chr3	64582545	64582545	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccactgaggacaagggccGgattcacaggctctttgctc	12	13	2	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr3:64582545G>A	uc003dmg.2	-	27	4172	c.4140C>T	c.(4138-4140)TCC>TCT	p.S1380S	ADAMTS9_uc011bfo.1_Silent_p.S1352S|ADAMTS9_uc003dmh.1_Silent_p.S1209S|ADAMTS9_uc011bfp.1_Silent_p.S291S	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1380					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GACAAGGGCCGGATTCACAGG	0.463													A	64582545	G	A	64582545	2	1	114	1	0	0	0	0	0	0	0	1	273	1103	39	1		1	ADAMTS9	3	64582545	Silent	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	12832849	64582545	133439885	50	74456											
FRMD4B	23150	broad.mit.edu	37	chr3	69231783	69231783	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gctgtaggcgtttcgggtaaGaactggcgtggtgggcatgc	18	7	0	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr3:69231783G>C	uc003dnv.2	-	20	2295	c.2005C>G	c.(2005-2007)CTT>GTT	p.L669V	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.L321V|FRMD4B_uc011bga.1_Missense_Mutation_p.L513V	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	669						cytoplasm|cytoskeleton	binding			ovary(3)|central_nervous_system(1)	4		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TTTCGGGTAAGAACTGGCGTG	0.493													C	69231783	G	C	69231783	3	2	114	1	0	0	0	0	1	0	0	0	6052	942	33	5	1115	5	FRMD4B	3	69231783	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	4649238	69231783	128790647	51	74457											
FAM55C	91775	broad.mit.edu	37	chr3	101540691	101540691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatatctcgtcgatgcctggGagatgaccctggcccattat	10	11	1	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr3:101540691G>A	uc003dvn.2	+	8	2210	c.1573G>A	c.(1573-1575)GAG>AAG	p.E525K	FAM55C_uc010hpn.2_Missense_Mutation_p.E525K	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	525						extracellular region				ovary(1)|pancreas(1)|skin(1)	3						CGATGCCTGGGAGATGACCCT	0.507													A	101540691	G	A	101540691	3	1	114	1	0	0	0	0	1	0	0	0	5586	1175	41	4	1591	4	FAM55C	3	101540691	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	32308908	101540691	96481739	52	74458											
BBX	56987	broad.mit.edu	37	chr3	107435518	107435518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgaagatgatgaatcacCagagcagcgagcccggagac	12	10	1	6			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr3:107435518C>T	uc010hpr.2	+	5	554	c.227C>T	c.(226-228)CCA>CTA	p.P76L	BBX_uc003dwk.3_Missense_Mutation_p.P76L|BBX_uc003dwl.3_Missense_Mutation_p.P76L|BBX_uc010hps.1_Missense_Mutation_p.P97L|BBX_uc003dwm.3_Missense_Mutation_p.P76L	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GATGAATCACCAGAGCAGCGA	0.463													T	107435518	C	T	107435518	3	4	114	1	0	0	0	0	1	0	0	0	1343	594	21	4	233	4	BBX	3	107435518	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	5894827	107435518	90586912	53	74459											
GP9	2815	broad.mit.edu	37	chr3	128780765	128780765	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caccttctgctggccaacaaCagccttcagtccgtgccccc	7	19	2	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr3:128780765C>G	uc003elm.2	+	3	370	c.183C>G	c.(181-183)AAC>AAG	p.N61K		NM_000174	NP_000165	P14770	GPIX_HUMAN	glycoprotein IX (platelet) precursor	61	Extracellular (Potential).|LRR.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding				0					Quinine(DB00468)	TGGCCAACAACAGCCTTCAGT	0.682													G	128780765	C	G	128780765	3	3	114	1	0	0	0	0	1	0	0	0	6585	477	17	5	185	5	GP9	3	128780765	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	21345247	128780765	69241665	54	74460											
PRR23B	389151	broad.mit.edu	37	chr3	138739150	138739150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacttccagcccggcagaCgagtcgtgctgcgctcctga	11	16	0	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr3:138739150C>T	uc003esy.1	-	1	619	c.354G>A	c.(352-354)TCG>TCA	p.S118S		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	proline rich 23B	118										breast(1)	1						GCCCGGCAGACGAGTCGTGCT	0.637													T	138739150	C	T	138739150	2	4	114	1	0	0	0	0	0	0	0	1	12595	523	19	1		1	PRR23B	3	138739150	Silent	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	9958385	138739150	59283280	55	74461											
MME	4311	broad.mit.edu	37	chr3	154886304	154886304	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaaactttaacaaagatggaGacctcgttgactggtggact	11	7	0	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr3:154886304G>C	uc010hvr.1	+	19	2015	c.1804G>C	c.(1804-1806)GAC>CAC	p.D602H	MME_uc003fab.1_Missense_Mutation_p.D602H|MME_uc003fac.1_Missense_Mutation_p.D602H|MME_uc003fad.1_Missense_Mutation_p.D602H|MME_uc003fae.1_Missense_Mutation_p.D602H	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	602	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CAAAGATGGAGACCTCGTTGA	0.378													C	154886304	G	C	154886304	3	2	114	1	0	0	0	0	1	0	0	0	9645	942	33	5	1874	5	MME	3	154886304	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	16147154	154886304	43136126	56	74462											
FNDC3B	64778	broad.mit.edu	37	chr3	171965381	171965381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaccccagtctcctgagtGttatcccccaagctacccct	5	19	1	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr3:171965381G>A	uc003fhy.2	+	5	495	c.323G>A	c.(322-324)TGT>TAT	p.C108Y	FNDC3B_uc003fhz.3_Missense_Mutation_p.C108Y|FNDC3B_uc003fia.2_Missense_Mutation_p.C39Y	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	108						endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TCTCCTGAGTGTTATCCCCCA	0.483													A	171965381	G	A	171965381	3	1	114	1	0	0	0	0	1	0	0	0	5970	1377	48	4	337	4	FNDC3B	3	171965381	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	17079077	171965381	26057049	57	74463											
EIF4A2	1974	broad.mit.edu	37	chr3	186503790	186503790	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaagcaccacatattgTtgttggtacacccgggagag	13	9	0	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr3:186503790T>A	uc003fqs.2	+	5	506	c.467T>A	c.(466-468)GTT>GAT	p.V156D	EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.V157D|EIF4A2_uc003fqv.2_Missense_Mutation_p.V61D|EIF4A2_uc003fqw.2_Missense_Mutation_p.V61D|EIF4A2_uc011bsb.1_Missense_Mutation_p.V29D|MIR1248_hsa-mir-1248|MI0006383_5'Flank|SNORA81_uc010hyv.1_5'Flank|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	156	Helicase ATP-binding.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			ovary(2)|breast(2)	4	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		CCACATATTGTTGTTGGTACA	0.378			T	BCL6	NHL								A	186503790	T	A	186503790	3	1	114	1	0	0	0	0	1	0	0	0	5025	1725	60	5	485	5	EIF4A2	3	186503790	Missense_Mutation	SNP	T	TCGA-BR-A4CQ-01A-12D-A25D-08	14538409	186503790	11518640	58	74464											
METTL14	57721	broad.mit.edu	37	chr4	119631250	119631261	+	In_Frame_Del	DEL	TACAGAAGAAAT	TACAGAAGAAAT	-													aattcctacttgactggttgTacagaagaaattgagagact							TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr4:119631249_119631260GTACAGAAGAAAT>G	uc003icf.3	+	10	1279_1290	c.1163_1174GTACAGAAGAAAT>G	c.(1162-1176)tgtacagaagaaatt>tGtt	p.TEEI389del		NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN	Homo sapiens methyltransferase like 14 (METTL14), mRNA.	389						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						TTGACTGGTTGTACAGAAGAAATTGAGAGACT	0.481													-	119631261	TACAGAAGAAAT	-	119631250	7	5	114	1	0	1	0	1	0	0	0	0	9498	1644	57	0	1206	0	METTL14	4	119631250	In_Frame_Del	DEL	TACAGAAGAAAT	TCGA-BR-A4CQ-01A-12D-A25D-08		119631250	71523026	59	74465											
PRDM5	11107	broad.mit.edu	37	chr4	121739673	121739673	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagcatagtcctctttacagCcaaggcgatctgcacattca	7	12	3	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr4:121739673C>G	uc003idn.2	-	5	735	c.485G>C	c.(484-486)GGC>GCC	p.G162A	PRDM5_uc003ido.2_Missense_Mutation_p.G162A|PRDM5_uc010ine.2_Missense_Mutation_p.G162A|PRDM5_uc010inf.2_Missense_Mutation_p.G162A	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	162					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2						CTCTTTACAGCCAAGGCGATC	0.388													G	121739673	C	G	121739673	3	3	114	1	0	0	0	0	1	0	0	0	12460	739	26	5	1455	5	PRDM5	4	121739673	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	2108423	121739673	69414603	60	74466											
FAT4	79633	broad.mit.edu	37	chr4	126242374	126242374	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctacaatctcatagtttcagCaacagaccttgggcctgaaa	7	11	2	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr4:126242374C>A	uc003ifj.3	+	1	4808	c.4808C>A	c.(4807-4809)GCA>GAA	p.A1603E		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1603	Cadherin 15.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ATAGTTTCAGCAACAGACCTT	0.453													A	126242374	C	A	126242374	3	1	114	1	0	0	0	0	1	0	0	0	5692	710	25	5	4810	5	FAT4	4	126242374	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	4502701	126242374	64911902	61	74467											
TLL1	7092	broad.mit.edu	37	chr4	166915615	166915615	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaatcgagttcccagagcCgctacatcaagaacggaaag	9	10	1	2	rs147468832		TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr4:166915615C>A	uc003irh.1	+	4	1091	c.444C>A	c.(442-444)GCC>GCA	p.A148A	TLL1_uc011cjn.1_Silent_p.A148A|TLL1_uc011cjo.1_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	148	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTCCCAGAGCCGCTACATCAA	0.418													A	166915615	C	A	166915615	2	1	114	1	0	0	0	0	0	0	0	1	15942	639	23	5		5	TLL1	4	166915615	Silent	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	40673241	166915615	24238661	62	74468											
LPCAT1	79888	broad.mit.edu	37	chr5	1471036	1471052	+	Splice_Site	DEL	CGCTCTGTGGGGAGAGA	CGCTCTGTGGGGAGAGA	-													caggtccacctcgccgctgcCgctctgtggggagagacgct							TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr5:1471035_1471051CCGCTCTGTGGGGAGAGA>C	uc003jcm.3	-	12	1297	c.1180_splice	c.e12-1	p.S394_splice		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA.	394	EF-hand 1.				phospholipid biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		CTCGCCGCTGCCGCTCTGTGGGGAGAGACGCTCTCAG	0.636													-	1471052	CGCTCTGTGGGGAGAGA	-	1471036	8	5	114	1	0	1	0	1	0	0	1	0	8910	652	23	0	433	0	LPCAT1	5	1471036	Splice_Site	DEL	CGCTCTGTGGGGAGAGA	TCGA-BR-A4CQ-01A-12D-A25D-08		1471036	179444224	63	74469											
SEMA5A	9037	broad.mit.edu	37	chr5	9227000	9227000	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgagcggttggtgcagacaGgcgtgaatgcattggtccca	15	10	0	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr5:9227000G>C	uc003jek.2	-	7	1125	c.413C>G	c.(412-414)CCT>CGT	p.P138R		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	138	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						GGTGCAGACAGGCGTGAATGC	0.423													C	9227000	G	C	9227000	3	2	114	1	0	0	0	0	1	0	0	0	14037	1000	35	5	2879	5	SEMA5A	5	9227000	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	7755964	9227000	171688260	64	74470											
CTNND2	1501	broad.mit.edu	37	chr5	11384956	11384956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggactgcacggtggggggcGaggtcacgcggatcggggac	21	9	1	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr5:11384956G>A	uc003jfa.1	-	7	1143	c.998C>T	c.(997-999)TCG>TTG	p.S333L	CTNND2_uc010itt.2_Missense_Mutation_p.S242L|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	333					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						GGTGGGGGGCGAGGTCACGCG	0.677													A	11384956	G	A	11384956	3	1	114	1	0	0	0	0	1	0	0	0	4020	1059	37	1	2743	1	CTNND2	5	11384956	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	2157956	11384956	169530304	65	74471											
PRDM9	56979	broad.mit.edu	37	chr5	23526712	23526712	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaacaggccagaaagtgaaTccagggaacacaggcaaatt	11	8	0	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr5:23526712T>C	uc003jgo.2	+	11	1697	c.1515T>C	c.(1513-1515)AAT>AAC	p.N505N		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	505					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						AGAAAGTGAATCCAGGGAACA	0.438										HNSCC(3;0.000094)			C	23526712	T	C	23526712	2	2	114	1	0	0	0	0	0	0	0	1	12463	1432	50	3		3	PRDM9	5	23526712	Silent	SNP	T	TCGA-BR-A4CQ-01A-12D-A25D-08	12141756	23526712	157388548	66	74472											
PRDM9	56979	broad.mit.edu	37	chr5	23526955	23526955	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tatgtctgcagggagtgtggGcggggctttagctggcagtc	18	7	1	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr5:23526955G>C	uc003jgo.2	+	11	1940	c.1758G>C	c.(1756-1758)GGG>GGC	p.G586G		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	586	C2H2-type 4.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						GGGAGTGTGGGCGGGGCTTTA	0.607										HNSCC(3;0.000094)			C	23526955	G	C	23526955	2	2	114	1	0	0	0	0	0	0	0	1	12463	1190	42	5		5	PRDM9	5	23526955	Silent	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	243	23526955	157388305	67	74473											
SPEF2	79925	broad.mit.edu	37	chr5	35779396	35779396	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaagatggtaccctgacCattgaacagcttgacagtct	10	9	1	5			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr5:35779396C>T	uc003jjo.2	+	30	4506	c.4395C>T	c.(4393-4395)ACC>ACT	p.T1465T	SPEF2_uc003jjp.1_Silent_p.T951T|SPEF2_uc003jjr.2_5'UTR	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1465					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTACCCTGACCATTGAACAGC	0.383													T	35779396	C	T	35779396	2	4	114	1	0	0	0	0	0	0	0	1	15034	581	21	4		4	SPEF2	5	35779396	Silent	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	12252441	35779396	145135864	68	74474											
NNT	23530	broad.mit.edu	37	chr5	43609438	43609438	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaactgtggtgtaaagcgccTgtaaaaccaggtaaagtctc	11	8	1	0	rs143463864	byFrequency	TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr5:43609438T>C	uc003joe.2	+	2	396	c.141T>C	c.(139-141)CCT>CCC	p.P47P	NNT_uc003jof.2_Silent_p.P47P	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	47	Mitochondrial matrix.				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	GTAAAGCGCCTGTAAAACCAG	0.383													C	43609438	T	C	43609438	2	2	114	1	0	0	0	0	0	0	0	1	10510	1567	55	3		3	NNT	5	43609438	Silent	SNP	T	TCGA-BR-A4CQ-01A-12D-A25D-08	7830042	43609438	137305822	69	74475											
SRFBP1	153443	broad.mit.edu	37	chr5	121311043	121311043	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcactgttaaaaaaccaaagAcgggcgcaaagattgcttga	10	8	0	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr5:121311043A>G	uc003kst.1	+	3	231	c.159A>G	c.(157-159)AGA>AGG	p.R53R		NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	53	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm					0		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		AAAACCAAAGACGGGCGCAAA	0.388													G	121311043	A	G	121311043	2	3	114	1	0	0	0	0	0	0	0	1	15143	272	10	3		3	SRFBP1	5	121311043	Silent	SNP	A	TCGA-BR-A4CQ-01A-12D-A25D-08	77701605	121311043	59604217	70	74476											
PCDHA9	9752	broad.mit.edu	37	chr5	140229774	140229774	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacgacaatgcgccggcgcTgctgacacctcggatgaggg	15	12	0	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr5:140229774T>C	uc003lhu.2	+	1	2418	c.1694T>C	c.(1693-1695)CTG>CCG	p.L565P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.L565P	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	565	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCGGCGCTGCTGACACCT	0.697													C	140229774	T	C	140229774	3	2	114	1	0	0	0	0	1	0	0	0	11531	1580	55	3	1696	3	PCDHA9	5	140229774	Missense_Mutation	SNP	T	TCGA-BR-A4CQ-01A-12D-A25D-08	18918731	140229774	40685486	71	74477											
PCDHB13	56123	broad.mit.edu	37	chr5	140595824	140595824	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcggtgctcctgttcgtggCggtgcggctgtgtaggagga	18	8	0	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr5:140595824C>A	uc003lja.1	+	1	2316	c.2129C>A	c.(2128-2130)GCG>GAG	p.A710E		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	710	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTCGTGGCGGTGCGGCTG	0.677													A	140595824	C	A	140595824	3	1	114	1	0	0	0	0	1	0	0	0	11538	768	27	5	2131	5	PCDHB13	5	140595824	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	366050	140595824	40319436	72	74478											
IRF4	3662	broad.mit.edu	37	chr6	394831	394831	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaccaggcttgggcacTgtttaaaggaaagttccgag	11	10	0	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr6:394831T>C	uc003msz.3	+	3	340	c.227T>C	c.(226-228)CTG>CCG	p.L76P	IRF4_uc010jne.1_Missense_Mutation_p.L76P|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.L76P|IRF4_uc003mtc.1_5'Flank	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	76	IRF tryptophan pentad repeat.				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GCTTGGGCACTGTTTAAAGGA	0.408			T	IGH@	MM 								C	394831	T	C	394831	3	2	114	1	0	0	0	0	1	0	0	0	7832	1580	55	3	233	3	IRF4	6	394831	Missense_Mutation	SNP	T	TCGA-BR-A4CQ-01A-12D-A25D-08		394831	170720236	73	74479											
CCDC90A	63933	broad.mit.edu	37	chr6	13792193	13792193	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtttcgatcttcctgtctGtctgggtaagggcccgatct	11	11	4	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr6:13792193G>T	uc003nbd.2	-	8	1069	c.941C>A	c.(940-942)ACA>AAA	p.T314K	uc003nbc.1_5'Flank|CCDC90A_uc010jpf.2_RNA	NM_001031713	NP_001026883	Q96AQ8	CC90A_HUMAN	coiled-coil domain containing 90A precursor	314						integral to membrane|mitochondrion					0	Breast(50;0.0027)|Ovarian(93;0.0964)	all_hematologic(90;0.117)				CTTCCTGTCTGTCTGGGTAAG	0.458													T	13792193	G	T	13792193	3	4	114	1	0	0	0	0	1	0	0	0	2868	1377	48	5	146	5	CCDC90A	6	13792193	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	13397362	13792193	157322874	74	74480											
ATXN1	6310	broad.mit.edu	37	chr6	16328351	16328351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccaagctccaccgaggtcCctgccggcccatgcctcccg	9	20	0	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr6:16328351C>T	uc003nbt.2	-	8	1162	c.191G>A	c.(190-192)GGG>GAG	p.G64E	ATXN1_uc010jpi.2_Missense_Mutation_p.G64E|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	64					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CACCGAGGTCCCTGCCGGCCC	0.672													T	16328351	C	T	16328351	3	4	114	1	0	0	0	0	1	0	0	0	1209	623	22	4	2264	4	ATXN1	6	16328351	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	2536158	16328351	154786716	75	74481											
TFEB	7942	broad.mit.edu	37	chr6	41652678	41652678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagggtcagggacctcagCccccagcatcagggcctccc	11	18	4	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr6:41652678C>T	uc003oqs.1	-	10	1392	c.1090G>A	c.(1090-1092)GCT>ACT	p.A364T	TFEB_uc003oqt.1_Missense_Mutation_p.A364T|TFEB_uc003oqu.1_Missense_Mutation_p.A378T|TFEB_uc003oqr.1_Missense_Mutation_p.A279T	NM_007162	NP_009093	P19484	TFEB_HUMAN	transcription factor EB	364					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GGGACCTCAGCCCCCAGCATC	0.682			T	ALPHA	renal (childhood epithelioid)								T	41652678	C	T	41652678	3	4	114	1	0	0	0	0	1	0	0	0	15798	739	26	2	344	2	TFEB	6	41652678	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	25324327	41652678	129462389	76	74482											
FAM83B	222584	broad.mit.edu	37	chr6	54806546	54806546	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtccagtgagcttctacgatCtcattcaactgatcggcgtg	10	11	3	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr6:54806546C>A	uc003pck.2	+	5	2893	c.2777C>A	c.(2776-2778)TCT>TAT	p.S926Y		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	926										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					CTTCTACGATCTCATTCAACT	0.433													A	54806546	C	A	54806546	3	1	114	1	0	0	0	0	1	0	0	0	5634	913	32	5	2791	5	FAM83B	6	54806546	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	13153868	54806546	116308521	77	74483											
FAM83B	222584	broad.mit.edu	37	chr6	54806610	54806610	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagattgagagctctatTcagccaacaagcaacatgcc	8	10	2	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr6:54806610T>G	uc003pck.2	+	5	2957	c.2841T>G	c.(2839-2841)ATT>ATG	p.I947M		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	947										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					AGAGCTCTATTCAGCCAACAA	0.438													G	54806610	T	G	54806610	3	3	114	1	0	0	0	0	1	0	0	0	5634	1771	62	5	2855	5	FAM83B	6	54806610	Missense_Mutation	SNP	T	TCGA-BR-A4CQ-01A-12D-A25D-08	64	54806610	116308457	78	74484											
DST	667	broad.mit.edu	37	chr6	56819242	56819242	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgagaagaccgatttcatCggatgcctccctttctggag	10	13	2	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr6:56819242C>T	uc003pdf.2	-	1	172	c.144G>A	c.(142-144)CCG>CCA	p.P48P	BEND6_uc010kab.2_5'Flank|BEND6_uc003pdg.2_5'Flank	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)			CCGATTTCATCGGATGCCTCC	0.562													T	56819242	C	T	56819242	2	4	114	1	0	0	0	0	0	0	0	1	4783	899	31	1		1	DST	6	56819242	Silent	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	2012632	56819242	114295825	79	74485											
COL9A1	1297	broad.mit.edu	37	chr6	71004163	71004163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgctccttcccagaggaatCctgaatctgccaaatgttcc	7	13	1	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr6:71004163C>T	uc003pfg.3	-	5	562	c.403G>A	c.(403-405)GAT>AAT	p.D135N		NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	135	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						CCAGAGGAATCCTGAATCTGC	0.433													T	71004163	C	T	71004163	3	4	114	1	0	0	0	0	1	0	0	0	3707	855	30	4	2574	4	COL9A1	6	71004163	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	14184921	71004163	100110904	80	74486											
KCNQ5	56479	broad.mit.edu	37	chr6	73332128	73332128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcggccacgctcggtggcGgcggcggtggcctgagggag	22	12	0	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr6:73332128G>A	uc003pgk.2	+	1	558	c.211G>A	c.(211-213)GGC>AGC	p.G71S	KCNQ5_uc003pgj.3_Missense_Mutation_p.G71S|KCNQ5_uc011dyh.1_Missense_Mutation_p.G71S|KCNQ5_uc011dyi.1_Missense_Mutation_p.G71S|KCNQ5_uc010kat.2_Missense_Mutation_p.G71S|KCNQ5_uc011dyj.1_Missense_Mutation_p.G71S|KCNQ5_uc011dyk.1_5'UTR	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	71					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GCTCGGTGGCGGCGGCGGTGG	0.746													A	73332128	G	A	73332128	3	1	114	1	0	0	0	0	1	0	0	0	8086	1116	39	1	213	1	KCNQ5	6	73332128	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	2327965	73332128	97782939	81	74487											
MDN1	23195	broad.mit.edu	37	chr6	90417179	90417179	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaaaacccgtttttcccggtCaagatatatgattgtcctgg	8	9	1	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr6:90417179C>G	uc003pnn.1	-	52	8031	c.7915G>C	c.(7915-7917)GAC>CAC	p.D2639H		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2639					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTTCCCGGTCAAGATATATG	0.358													G	90417179	C	G	90417179	3	3	114	1	0	0	0	0	1	0	0	0	9415	826	29	5	9079	5	MDN1	6	90417179	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	17085051	90417179	80697888	82	74488											
FAM184A	79632	broad.mit.edu	37	chr6	119338083	119338083	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccctttcataatattcttgCtgagttctctttgcttcatt	4	10	4	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr6:119338083C>A	uc003pyj.2	-	5	1707	c.1359G>T	c.(1357-1359)CAG>CAT	p.Q453H	FAM184A_uc003pyk.3_Missense_Mutation_p.Q333H|FAM184A_uc003pyl.3_Missense_Mutation_p.Q333H	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	453	Potential.									ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						AATATTCTTGCTGAGTTCTCT	0.338													A	119338083	C	A	119338083	3	1	114	1	0	0	0	0	1	0	0	0	5511	796	28	5	2119	5	FAM184A	6	119338083	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	28920904	119338083	51776984	83	74489											
MAN1A1	4121	broad.mit.edu	37	chr6	119670147	119670147	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggcggggcccgaccccttCctgccaccgccgccgccgag	14	21	0	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr6:119670147C>T	uc003pym.1	-	2	526	c.84G>A	c.(82-84)AGG>AGA	p.R28R	MAN1A1_uc010kei.1_Silent_p.R28R	NM_005907	NP_005898	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	28	Cytoplasmic (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		CCGACCCCTTCCTGCCAccgc	0.522													T	119670147	C	T	119670147	2	4	114	1	0	0	0	0	0	0	0	1	9210	854	30	4		4	MAN1A1	6	119670147	Silent	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	332064	119670147	51444920	84	74490											
HEY2	23493	broad.mit.edu	37	chr6	126080780	126080780	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacagcttccctctgtccttCgcgggggcattccccatgct	9	17	1	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr6:126080780C>T	uc003qad.2	+	5	1037	c.846C>T	c.(844-846)TTC>TTT	p.F282F	HEY2_uc011ebr.1_Silent_p.F236F	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	hairy/enhancer-of-split related with YRPW motif	282	Ala-rich.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CTCTGTCCTTCGCGGGGGCAT	0.672													T	126080780	C	T	126080780	2	4	114	1	0	0	0	0	0	0	0	1	7079	883	31	1		1	HEY2	6	126080780	Silent	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	6410633	126080780	45034287	85	74491											
SYNE1	23345	broad.mit.edu	37	chr6	152718079	152718079	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgagtcactgcatcaaGtttgctctgcccatcactga	7	12	5	2	rs144336474		TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr6:152718079G>T	uc010kiw.2	-	50	7989	c.7387C>A	c.(7387-7389)CTT>ATT	p.L2463I	SYNE1_uc003qot.3_Missense_Mutation_p.L2470I|SYNE1_uc003qou.3_Missense_Mutation_p.L2463I|SYNE1_uc010kjb.1_Missense_Mutation_p.L2446I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2463	Spectrin 4.|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)		ACTGCATCAAGTTTGCTCTGC	0.388										HNSCC(10;0.0054)			T	152718079	G	T	152718079	3	4	114	1	0	0	0	0	1	0	0	0	15442	1029	36	5	19467	5	SYNE1	6	152718079	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	26637299	152718079	18396988	86	74492											
C6orf118	168090	broad.mit.edu	37	chr6	165715680	165715680	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgaagccgattcagaAgtttcttcagattacacagg	8	9	4	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr6:165715680A>C	uc003qum.3	-	2	167	c.131T>G	c.(130-132)CTT>CGT	p.L44R	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	44											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCGATTCAGAAGTTTCTTCAG	0.537													C	165715680	A	C	165715680	3	2	114	1	0	0	0	0	1	0	0	0	2323	72	3	5	1310	5	C6orf118	6	165715680	Missense_Mutation	SNP	A	TCGA-BR-A4CQ-01A-12D-A25D-08	12997601	165715680	5399387	87	74493											
TMEM195	392636	broad.mit.edu	37	chr7	15405215	15405215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattaagaacatcaagcaaCggagagtttccataatagct	8	8	1	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr7:15405215C>T	uc003stb.1	-	12	1357	c.1187G>A	c.(1186-1188)CGT>CAT	p.R396H		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	396					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0						CATCAAGCAACGGAGAGTTTC	0.363													T	15405215	C	T	15405215	3	4	114	1	0	0	0	0	1	0	0	0	16114	536	19	1	158	1	TMEM195	7	15405215	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08		15405215	143733448	88	74494											
NFE2L3	9603	broad.mit.edu	37	chr7	26224557	26224557	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtttctcagctttttgaTgaaccagattctgattctgg	9	7	3	4			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr7:26224557T>C	uc003sxq.2	+	4	1511	c.1239T>C	c.(1237-1239)GAT>GAC	p.D413D		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	nuclear factor erythroid 2-like 3	413					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			skin(3)|ovary(1)	4						AGCTTTTTGATGAACCAGATT	0.363													C	26224557	T	C	26224557	2	2	114	1	0	0	0	0	0	0	0	1	10369	1461	51	3		3	NFE2L3	7	26224557	Silent	SNP	T	TCGA-BR-A4CQ-01A-12D-A25D-08	10819342	26224557	132914106	89	74495											
ZNF479	90827	broad.mit.edu	37	chr7	57188696	57188696	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaacattggttaacttcactAtaacctcccttgtgcacctc	4	13	1	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr7:57188696A>T	uc010kzo.2	-	5	697	c.426T>A	c.(424-426)TAT>TAA	p.Y142*		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)			TAACTTCACTATAACCTCCCT	0.308													T	57188696	A	T	57188696	4	4	114	1	0	0	0	0	0	1	0	0	17930	456	16	5	1152	5	ZNF479	7	57188696	Nonsense_Mutation	SNP	A	TCGA-BR-A4CQ-01A-12D-A25D-08	30964139	57188696	101949967	90	74496											
DNAJC30	84277	broad.mit.edu	37	chr7	73097334	73097334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgggcggcggGgtacgcggcgagccggggtc	23	10	0	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr7:73097334G>A	uc003tys.1	-	1	448	c.420C>T	c.(418-420)ACC>ACT	p.T140T	WBSCR22_uc010lbi.1_5'Flank|WBSCR22_uc003tyt.2_5'Flank|WBSCR22_uc003tyu.2_5'Flank|WBSCR22_uc003tyv.2_5'Flank|WBSCR22_uc003tyw.1_5'Flank	NM_032317	NP_115693	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog subfamily C member 30	140					protein folding		heat shock protein binding|unfolded protein binding				0						TGGGCGGCGGGGTACGCGGCG	0.711													A	73097334	G	A	73097334	2	1	114	1	0	0	0	0	0	0	0	1	4648	1219	43	4		4	DNAJC30	7	73097334	Silent	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	15908638	73097334	86041329	91	74497											
LMOD2	442721	broad.mit.edu	37	chr7	123302309	123302309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttgaacaacattgagaaCatcacaacacagacccttac	4	11	1	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr7:123302309C>T	uc003vky.2	+	2	826	c.669C>T	c.(667-669)AAC>AAT	p.N223N		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	223						cytoskeleton	actin binding|tropomyosin binding				0						ACATTGAGAACATCACAACAC	0.483													T	123302309	C	T	123302309	2	4	114	1	0	0	0	0	0	0	0	1	8857	477	17	4		4	LMOD2	7	123302309	Silent	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	50204975	123302309	35836354	92	74498											
ADCK2	90956	broad.mit.edu	37	chr7	140373462	140373462	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctctgttggtgaaattctTccccctcctactcctctacc	5	17	3	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr7:140373462T>C	uc003vvy.1	+	1	510	c.332T>C	c.(331-333)TTC>TCC	p.F111S	ADCK2_uc003vvz.2_Missense_Mutation_p.F111S	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	111	Helical; (Potential).					integral to membrane	ATP binding|protein serine/threonine kinase activity				0	Melanoma(164;0.00956)					GTGAAATTCTTCCCCCTCCTA	0.677													C	140373462	T	C	140373462	3	2	114	1	0	0	0	0	1	0	0	0	289	1783	62	3	334	3	ADCK2	7	140373462	Missense_Mutation	SNP	T	TCGA-BR-A4CQ-01A-12D-A25D-08	17071153	140373462	18765201	93	74499											
CASP2	835	broad.mit.edu	37	chr7	142989724	142989724	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacagttgagctgtgactaCgacttgagtctcccttttcc	8	11	1	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr7:142989724C>T	uc003wco.2	+	4	555	c.408C>T	c.(406-408)TAC>TAT	p.Y136Y	CASP2_uc003wcp.2_Intron|CASP2_uc011kta.1_Silent_p.Y20Y|CASP2_uc003wcq.2_RNA	NM_032982	NP_116764	P42575	CASP2_HUMAN	caspase 2 isoform 1 preproprotein	136					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			lung(2)|ovary(1)	3	Melanoma(164;0.059)					GCTGTGACTACGACTTGAGTC	0.473													T	142989724	C	T	142989724	2	4	114	1	0	0	0	0	0	0	0	1	2671	547	19	1		1	CASP2	7	142989724	Silent	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	2616262	142989724	16148939	94	74500											
OR2A2	442361	broad.mit.edu	37	chr7	143807364	143807364	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcctgaagatccagacaaAggagggccgcataaaggcct	11	11	0	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr7:143807364A>C	uc011ktz.1	+	1	689	c.689A>C	c.(688-690)AAG>ACG	p.K230T		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	230	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.0783)					ATCCAGACAAAGGAGGGCCGC	0.517													C	143807364	A	C	143807364	3	2	114	1	0	0	0	0	1	0	0	0	10977	72	3	5	691	5	OR2A2	7	143807364	Missense_Mutation	SNP	A	TCGA-BR-A4CQ-01A-12D-A25D-08	817640	143807364	15331299	95	74501											
PTPRN2	5799	broad.mit.edu	37	chr7	157931128	157931128	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcagctcagccatgccGtccagctccaggccactcag	9	18	3	0	rs140368368		TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr7:157931128G>A	uc003wno.2	-	7	1111	c.990C>T	c.(988-990)GAC>GAT	p.D330D	PTPRN2_uc003wnp.2_Silent_p.D313D|PTPRN2_uc003wnq.2_Silent_p.D330D|PTPRN2_uc003wnr.2_Silent_p.D292D|PTPRN2_uc011kwa.1_Silent_p.D353D	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	330	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CAGCCATGCCGTCCAGCTCCA	0.637													A	157931128	G	A	157931128	2	1	114	1	0	0	0	0	0	0	0	1	12808	1136	40	1		1	PTPRN2	7	157931128	Silent	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	14123764	157931128	1207535	96	74502											
DLGAP2	9228	broad.mit.edu	37	chr8	1497185	1497185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccaagatcaaccgcatccCggccaacctgctggaccagt	9	17	1	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr8:1497185C>T	uc003wpl.2	+	2	423	c.326C>T	c.(325-327)CCG>CTG	p.P109L	DLGAP2_uc003wpm.2_Missense_Mutation_p.P109L	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	188					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AACCGCATCCCGGCCAACCTG	0.687													T	1497185	C	T	1497185	3	4	114	1	0	0	0	0	1	0	0	0	4560	652	23	1	328	1	DLGAP2	8	1497185	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08		1497185	144866837	97	74503											
TEX15	56154	broad.mit.edu	37	chr8	30701748	30701748	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaaaatcactcacgtatgAcgcaggtttcttcagaagag	8	8	4	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr8:30701748A>G	uc003xil.2	-	1	4786	c.4786T>C	c.(4786-4788)TCA>CCA	p.S1596P		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1596										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTCACGTATGACGCAGGTTTC	0.398													G	30701748	A	G	30701748	3	3	114	1	0	0	0	0	1	0	0	0	15776	275	10	3	3599	3	TEX15	8	30701748	Missense_Mutation	SNP	A	TCGA-BR-A4CQ-01A-12D-A25D-08	29204563	30701748	115662274	98	74504											
TEX15	56154	broad.mit.edu	37	chr8	30701929	30701929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttctctcttttgttaagCggattagaaactgtgttctt	7	7	4	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr8:30701929C>T	uc003xil.2	-	1	4605	c.4605G>A	c.(4603-4605)CCG>CCA	p.P1535P		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1535										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTTGTTAAGCGGATTAGAAA	0.353													T	30701929	C	T	30701929	2	4	114	1	0	0	0	0	0	0	0	1	15776	755	27	1		1	TEX15	8	30701929	Silent	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	181	30701929	115662093	99	74505											
TEX15	56154	broad.mit.edu	37	chr8	30704291	30704291	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aataaaaatagttactttccTtagaataatgctgatcacta	4	6	1	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr8:30704291T>G	uc003xil.2	-	1	2243	c.2243A>C	c.(2242-2244)AAG>ACG	p.K748T		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	748										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTTACTTTCCTTAGAATAATG	0.353													G	30704291	T	G	30704291	3	3	114	1	0	0	0	0	1	0	0	0	15776	1609	56	5	6142	5	TEX15	8	30704291	Missense_Mutation	SNP	T	TCGA-BR-A4CQ-01A-12D-A25D-08	2362	30704291	115659731	100	74506											
PGCP	10404	broad.mit.edu	37	chr8	98078419	98078419	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggacagacatcaacttttgGatccaagctggagtgcctgg	13	9	1	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr8:98078419G>A	uc003yhw.2	+	7	1402	c.1236G>A	c.(1234-1236)TGG>TGA	p.W412*		NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	plasma glutamate carboxypeptidase precursor	412					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity			upper_aerodigestive_tract(1)	1	Breast(36;1.86e-05)					TCAACTTTTGGATCCAAGCTG	0.433													A	98078419	G	A	98078419	4	1	114	1	0	0	0	0	0	1	0	0	11786	1183	41	4	1258	4	PGCP	8	98078419	Nonsense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	67374128	98078419	48285603	101	74507											
EIF2C2	27161	broad.mit.edu	37	chr8	141545600	141545600	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgactacacaggtagaagtcGaactcggtggggtgggtgat	16	6	0	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr8:141545600G>A	uc003yvn.2	-	17	2278	c.2238C>T	c.(2236-2238)TTC>TTT	p.F746F	EIF2C2_uc010men.2_Silent_p.F669F|EIF2C2_uc010meo.2_Intron	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	746	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			GGTAGAAGTCGAACTCGGTGG	0.562													A	141545600	G	A	141545600	2	1	114	1	0	0	0	0	0	0	0	1	5006	1049	37	1		1	EIF2C2	8	141545600	Silent	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	43467181	141545600	4818422	102	74508											
PTCH1	5727	broad.mit.edu	37	chr9	98241322	98241322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctccaggatggctgccGctttgtcctcgttccagttg	12	13	0	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr9:98241322G>A	uc004avk.3	-	8	1363	c.1175C>T	c.(1174-1176)GCG>GTG	p.A392V	PTCH1_uc010mro.2_Missense_Mutation_p.A241V|PTCH1_uc010mrp.2_Missense_Mutation_p.A241V|PTCH1_uc010mrq.2_Missense_Mutation_p.A241V|PTCH1_uc004avl.3_Missense_Mutation_p.A241V|PTCH1_uc010mrr.2_Missense_Mutation_p.A326V|PTCH1_uc004avm.3_Missense_Mutation_p.A391V|PTCH1_uc010mrs.1_Missense_Mutation_p.A112V	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	392	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GATGGCTGCCGCTTTGTCCTC	0.517									Basal_Cell_Nevus_syndrome				A	98241322	G	A	98241322	3	1	114	1	0	0	0	0	1	0	0	0	12730	1087	38	1	3232	1	PTCH1	9	98241322	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08		98241322	42972109	103	74509											
FAM78A	286336	broad.mit.edu	37	chr9	134136311	134136311	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttgaccagggcgctgggCgggatgggctcattcttgct	17	10	2	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr9:134136311C>T	uc004cak.2	-	2	1090	c.750G>A	c.(748-750)CCG>CCA	p.P250P	FAM78A_uc004caj.2_Silent_p.P247P	NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN	hypothetical protein LOC286336	250										ovary(1)	1	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		GGGCGCTGGGCGGGATGGGCT	0.687													T	134136311	C	T	134136311	2	4	114	1	0	0	0	0	0	0	0	1	5626	755	27	1		1	FAM78A	9	134136311	Silent	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	35894989	134136311	7077120	104	74510											
KIAA1217	56243	broad.mit.edu	37	chr10	24820922	24820922	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggagaacatcaccgctaaGgtctgataggctaagccctg	11	10	2	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr10:24820922G>T	uc001iru.3	+	15	3649	c.3246G>T	c.(3244-3246)AAG>AAT	p.K1082N	KIAA1217_uc001irs.2_Missense_Mutation_p.K1002N|KIAA1217_uc001irt.3_Missense_Mutation_p.K1047N|KIAA1217_uc010qcy.1_Missense_Mutation_p.K1046N|KIAA1217_uc010qcz.1_Missense_Mutation_p.K1047N|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Missense_Mutation_p.K765N|KIAA1217_uc001irz.2_Missense_Mutation_p.K765N|KIAA1217_uc001irx.2_Missense_Mutation_p.K765N|KIAA1217_uc001iry.2_Missense_Mutation_p.K765N	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1082					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						TCACCGCTAAGGTCTGATAGG	0.532													T	24820922	G	T	24820922	3	4	114	1	0	0	0	0	1	0	0	0	8216	1014	35	5	3304	5	KIAA1217	10	24820922	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08		24820922	110713825	105	74511											
TMEM72	643236	broad.mit.edu	37	chr10	45430339	45430339	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcctgaaggggactaagaaGcccagtgccctccagccccc	10	16	0	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr10:45430339G>T	uc001jbn.2	+	5	782	c.585G>T	c.(583-585)AAG>AAT	p.K195N	uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.K77N	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	transmembrane protein 72	195						integral to membrane					0						GGACTAAGAAGCCCAGTGCCC	0.582													T	45430339	G	T	45430339	3	4	114	1	0	0	0	0	1	0	0	0	16198	962	34	5	603	5	TMEM72	10	45430339	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	20609417	45430339	90104408	106	74512											
HPSE2	60495	broad.mit.edu	37	chr10	100481490	100481490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggctctggaataaatccGgatgggctgcaacaggctct	13	10	2	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr10:100481490G>A	uc001kpn.1	-	5	940	c.880C>T	c.(880-882)CGG>TGG	p.R294W	HPSE2_uc009xwc.1_Missense_Mutation_p.R284W|HPSE2_uc001kpo.1_Missense_Mutation_p.R226W|HPSE2_uc009xwd.1_Missense_Mutation_p.R172W	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	heparanase 2	294					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			ovary(1)	1				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GAATAAATCCGGATGGGCTGC	0.498													A	100481490	G	A	100481490	3	1	114	1	0	0	0	0	1	0	0	0	7345	1115	39	1	968	1	HPSE2	10	100481490	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	55051151	100481490	35053257	107	74513											
PKD2L1	9033	broad.mit.edu	37	chr10	102051174	102051174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagtgatttcatgctctgCgtgtcccagtctgagaagag	11	10	4	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr10:102051174C>T	uc001kqx.1	-	12	2274	c.1891G>A	c.(1891-1893)GCA>ACA	p.A631T	PKD2L1_uc009xwm.1_Missense_Mutation_p.A584T	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	631	Cytoplasmic (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCATGCTCTGCGTGTCCCAGT	0.483													T	102051174	C	T	102051174	3	4	114	1	0	0	0	0	1	0	0	0	11967	768	27	1	546	1	PKD2L1	10	102051174	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	1569684	102051174	33483573	108	74514											
PDCD11	22984	broad.mit.edu	37	chr10	105200216	105200216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaaaatcagaaaaggaacGagaagaagaaccagaagggg	13	4	1	6			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr10:105200216G>A	uc001kwy.1	+	29	4405	c.4318G>A	c.(4318-4320)GAG>AAG	p.E1440K		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1440					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		gaaaaggaacgagaagaagaa	0.284													A	105200216	G	A	105200216	3	1	114	1	0	0	0	0	1	0	0	0	11617	1059	37	1	4428	1	PDCD11	10	105200216	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	3149042	105200216	30334531	109	74515											
ZDHHC6	64429	broad.mit.edu	37	chr10	114194103	114194103	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttactggccactcaagtccAtctccttcagggacccctga	7	16	3	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr10:114194103A>T	uc001kzv.2	-	7	1279	c.855T>A	c.(853-855)GAT>GAA	p.D285E	ZDHHC6_uc001kzw.2_Missense_Mutation_p.D281E|ZDHHC6_uc009xya.1_Missense_Mutation_p.D285E	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	285						integral to membrane	acyltransferase activity|zinc ion binding				0		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		ACTCAAGTCCATCTCCTTCAG	0.418													T	114194103	A	T	114194103	3	4	114	1	0	0	0	0	1	0	0	0	17616	214	8	5	406	5	ZDHHC6	10	114194103	Missense_Mutation	SNP	A	TCGA-BR-A4CQ-01A-12D-A25D-08	8993887	114194103	21340644	110	74516											
PARVA	55742	broad.mit.edu	37	chr11	12525930	12525930	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtctcagtatttccgcgcacCaattcgactcccagaccatg	7	15	1	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr11:12525930C>G	uc001mki.2	+	6	660	c.611C>G	c.(610-612)CCA>CGA	p.P204R	PARVA_uc010rck.1_Missense_Mutation_p.P151R	NM_018222	NP_060692	Q9NVD7	PARVA_HUMAN	parvin, alpha	204					cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)	3				Epithelial(150;0.00624)		TTCCGCGCACCAATTCGACTC	0.468													G	12525930	C	G	12525930	3	3	114	1	0	0	0	0	1	0	0	0	11468	594	21	5	633	5	PARVA	11	12525930	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08		12525930	122480586	111	74517											
COPB1	1315	broad.mit.edu	37	chr11	14520475	14520476	+	Translation_Start_Site	INS	-	-	GGTTTCTG													cgttctcagccgccgtcatgINSgtttctggttatattataac							TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr11:14520474_14520475T>TGGTTTCTG	uc001mlh.2	-	1					COPB1_uc001mli.2_Start_Codon_Ins|COPB1_uc001mlg.2_Start_Codon_Ins|PSMA1_uc010rcp.1_Non-coding_Transcript	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.						COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GCCGCCGTCATGGTTTCTGGTT	0.337													GGTTTCTG	14520476	-	GGTTTCTG	14520475	6	5	114	1	0	1	1	0	0	0	0	0	3728	1363	47	0		0	COPB1	11	14520475	Translation_Start_Site	INS	-	TCGA-BR-A4CQ-01A-12D-A25D-08	1994545	14520475	120486041	112	74518											
PAX6	5080	broad.mit.edu	37	chr11	31824271	31824271	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagaattcgggaaatgTcgcacggccgggccccgctg	14	14	0	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr11:31824271T>A	uc001mtd.3	-	4	1012	c.122A>T	c.(121-123)GAC>GTC	p.D41V	PAX6_uc001mte.3_Missense_Mutation_p.D41V|PAX6_uc001mtg.3_Missense_Mutation_p.D41V|PAX6_uc001mtf.3_Missense_Mutation_p.D41V|PAX6_uc001mth.3_Missense_Mutation_p.D41V|PAX6_uc009yjr.2_Missense_Mutation_p.D41V	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	41	Paired.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					TCGGGAAATGTCGCACGGCCG	0.632									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				A	31824271	T	A	31824271	3	1	114	1	0	0	0	0	1	0	0	0	11483	1667	58	5	1228	5	PAX6	11	31824271	Missense_Mutation	SNP	T	TCGA-BR-A4CQ-01A-12D-A25D-08	17303796	31824271	103182245	113	74519											
OR4D6	219983	broad.mit.edu	37	chr11	59224503	59224503	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttacacgttcccgagagctgGagtttttcttgtttgtggtc	11	8	1	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr11:59224503G>C	uc010rku.1	+	1	70	c.70G>C	c.(70-72)GAG>CAG	p.E24Q		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D,	24	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CCGAGAGCTGGAGTTTTTCTT	0.473													C	59224503	G	C	59224503	3	2	114	1	0	0	0	0	1	0	0	0	11058	1175	41	5	72	5	OR4D6	11	59224503	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	27400232	59224503	75782013	114	74520											
NRXN2	9379	broad.mit.edu	37	chr11	64416246	64416246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccaatgcggtgcagggcGtcggcgatgaggtctgggag	19	9	1	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr11:64416246G>A	uc001oar.2	-	17	3682	c.3243C>T	c.(3241-3243)GAC>GAT	p.D1081D	NRXN2_uc001oas.2_Silent_p.D1041D|NRXN2_uc001oaq.2_Silent_p.D748D	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:Variant_position_missing_in_P58401_after_alignment					cell adhesion	integral to membrane		p.D1081N(1)		upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						GGTGCAGGGCGTCGGCGATGA	0.647													A	64416246	G	A	64416246	2	1	114	1	0	0	0	0	0	0	0	1	10666	1136	40	1		1	NRXN2	11	64416246	Silent	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	5191743	64416246	70590270	115	74521											
SLC25A45	283130	broad.mit.edu	37	chr11	65144451	65144451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcacagtgcacgggccCctggtaccggggtggggggc	20	12	0	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr11:65144451C>T	uc001odp.1	-	5	858	c.436G>A	c.(436-438)GGG>AGG	p.G146R	SLC25A45_uc009yqi.1_Missense_Mutation_p.G84R|SLC25A45_uc001odq.1_Missense_Mutation_p.G122R|SLC25A45_uc001odr.1_Missense_Mutation_p.G146R|SLC25A45_uc001ods.1_Missense_Mutation_p.G104R|SLC25A45_uc001odt.1_Missense_Mutation_p.G104R	NM_001077241	NP_001070709	Q8N413	S2545_HUMAN	solute carrier family 25, member 45 isoform b	146	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						TGCACGGGCCCCTGGTACCGG	0.677													T	65144451	C	T	65144451	3	4	114	1	0	0	0	0	1	0	0	0	14510	623	22	4	438	4	SLC25A45	11	65144451	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	728205	65144451	69862065	116	74522											
RBM14	10432	broad.mit.edu	37	chr11	66392900	66392900	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctggcagctccttaccgcaCtcagtcatcagcctcattgg	8	16	4	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr11:66392900C>G	uc001oit.2	+	2	1692	c.1553C>G	c.(1552-1554)ACT>AGT	p.T518S	RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	518	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						CCTTACCGCACTCAGTCATCA	0.652													G	66392900	C	G	66392900	3	3	114	1	0	0	0	0	1	0	0	0	13115	565	20	5	1559	5	RBM14	11	66392900	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	1248449	66392900	68613616	117	74523											
PHOX2A	401	broad.mit.edu	37	chr11	71954983	71954983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgcaggcgccaaagtcGccgtaggcggacgcctccat	14	14	0	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr11:71954983G>A	uc001osh.3	-	1	238	c.66C>T	c.(64-66)GGC>GGT	p.G22G		NM_005169	NP_005160	O14813	PHX2A_HUMAN	paired-like homeobox 2a	22					noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CGCCAAAGTCGCCGTAGGCGG	0.617													A	71954983	G	A	71954983	2	1	114	1	0	0	0	0	0	0	0	1	11858	1074	38	1		1	PHOX2A	11	71954983	Silent	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	5562083	71954983	63051533	118	74524											
ATM	472	broad.mit.edu	37	chr11	108199886	108199886	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actacatgaaatcatcggaaTttgaaaacaagcaagctctc	6	9	2	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr11:108199886T>C	uc001pkb.1	+	49	7613	c.7228T>C	c.(7228-7230)TTT>CTT	p.F2410L	ATM_uc009yxr.1_Missense_Mutation_p.F2410L|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.F1062L|ATM_uc001pkg.1_Missense_Mutation_p.F767L	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2410	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATCATCGGAATTTGAAAACAA	0.373			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			C	108199886	T	C	108199886	3	2	114	1	0	0	0	0	1	0	0	0	1109	1493	52	3	7418	3	ATM	11	108199886	Missense_Mutation	SNP	T	TCGA-BR-A4CQ-01A-12D-A25D-08	36244903	108199886	26806630	119	74525											
POU2F3	25833	broad.mit.edu	37	chr11	120180168	120180168	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcggaggagatctccatgaTtgcagagcagttgtccatgg	13	9	1	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr11:120180168T>C	uc001pxc.2	+	10	1043	c.941T>C	c.(940-942)ATT>ACT	p.I314T	POU2F3_uc010rzk.1_Missense_Mutation_p.I268T|POU2F3_uc010rzl.1_Missense_Mutation_p.I244T|POU2F3_uc001pxe.1_Missense_Mutation_p.I99T	NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN	POU transcription factor	314	Homeobox.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			ovary(1)|skin(1)	2		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		ATCTCCATGATTGCAGAGCAG	0.557													C	120180168	T	C	120180168	3	2	114	1	0	0	0	0	1	0	0	0	12273	1493	52	3	979	3	POU2F3	11	120180168	Missense_Mutation	SNP	T	TCGA-BR-A4CQ-01A-12D-A25D-08	11980282	120180168	14826348	120	74526											
CHD4	1108	broad.mit.edu	37	chr12	6687229	6687229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcagccagtagtcatgccGtcgatgccagatctcataag	10	11	2	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr12:6687229G>A	uc001qpo.2	-	36	5358	c.5194C>T	c.(5194-5196)CGG>TGG	p.R1732W	CHD4_uc001qpn.2_Missense_Mutation_p.R1725W|CHD4_uc001qpp.2_Missense_Mutation_p.R1757W|uc001qpq.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1732	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TAGTCATGCCGTCGATGCCAG	0.478													A	6687229	G	A	6687229	3	1	114	1	0	0	0	0	1	0	0	0	3327	1144	40	1	564	1	CHD4	12	6687229	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08		6687229	127164666	121	74527											
PRB1	5542	broad.mit.edu	37	chr12	11506719	11506719	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggggaccttggggctgGttacctccttgtgggggtgg	21	7	0	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr12:11506719G>C	uc001qzw.1	-	3	355	c.318C>G	c.(316-318)AAC>AAG	p.N106K	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1 isoform 1	167	6.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).			extracellular region					0			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTGGGGCTGGTTACCTCCTT	0.612													C	11506719	G	C	11506719	3	2	114	1	0	0	0	0	1	0	0	0	12442	1252	44	5	681	5	PRB1	12	11506719	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	4819490	11506719	122345176	122	74528											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr12:25398285C>T	uc001rgp.1	-	2	215	c.34G>A	c.(34-36)GGT>AGT	p.G12S	KRAS_uc001rgq.1_Missense_Mutation_p.G12S|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25398285	C	T	25398285	3	4	114	1	0	0	0	0	1	0	0	0	8438	594	21	4	672	4	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	13891566	25398285	108453610	123	74529											
KRT7	3855	broad.mit.edu	37	chr12	52627391	52627391	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cctcaacaacaagtttgcctCcttcatcgacaaggtgagcg	8	13	2	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr12:52627391C>G	uc001saa.1	+	1	438	c.311C>G	c.(310-312)TCC>TGC	p.S104C	KRT7_uc009zmf.1_Missense_Mutation_p.S104C	NM_005556	NP_005547	P08729	K2C7_HUMAN	keratin 7	104	Rod.|Coil 1A.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.105)		AAGTTTGCCTCCTTCATCGAC	0.682													G	52627391	C	G	52627391	3	3	114	1	0	0	0	0	1	0	0	0	8483	855	30	5	313	5	KRT7	12	52627391	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	27229106	52627391	81224504	124	74530											
ARHGAP9	64333	broad.mit.edu	37	chr12	57870956	57870956	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacctgtgggtcaagcggttCtggggtccctgtgtcagatc	14	11	3	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr12:57870956C>T	uc001sod.2	-	8	1259	c.1066G>A	c.(1066-1068)GAA>AAA	p.E356K	ARHGAP9_uc001sny.2_5'Flank|ARHGAP9_uc001snz.2_Missense_Mutation_p.E101K|ARHGAP9_uc001soa.2_5'UTR|ARHGAP9_uc001sob.2_Missense_Mutation_p.E285K|ARHGAP9_uc001soc.2_Missense_Mutation_p.E285K|ARHGAP9_uc001soe.1_Missense_Mutation_p.E364K|ARHGAP9_uc010sro.1_Missense_Mutation_p.E285K	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9 isoform 1	285					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			lung(1)	1			GBM - Glioblastoma multiforme(3;3.37e-34)			TCAAGCGGTTCTGGGGTCCCT	0.517													T	57870956	C	T	57870956	3	4	114	1	0	0	0	0	1	0	0	0	889	922	32	4	1398	4	ARHGAP9	12	57870956	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	5243565	57870956	75980939	125	74531											
XPOT	11260	broad.mit.edu	37	chr12	64816815	64816815	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcggatcagcaaaaagctAatgtagaggtaattgacttt	9	6	2	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr12:64816815A>G	uc001ssb.2	+	10	1537	c.1111A>G	c.(1111-1113)AAT>GAT	p.N371D		NM_007235	NP_009166	O43592	XPOT_HUMAN	tRNA exportin	371	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(28;0.0404)		GCAAAAAGCTAATGTAGAGGT	0.294													G	64816815	A	G	64816815	3	3	114	1	0	0	0	0	1	0	0	0	17447	362	13	3	1145	3	XPOT	12	64816815	Missense_Mutation	SNP	A	TCGA-BR-A4CQ-01A-12D-A25D-08	6945859	64816815	69035080	126	74532											
TPH2	121278	broad.mit.edu	37	chr12	72372834	72372834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgtacccagtacatccGgcatggctcagatcccctct	7	17	2	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr12:72372834G>A	uc009zrw.1	+	7	1049	c.908G>A	c.(907-909)CGG>CAG	p.R303Q	TPH2_uc001swy.2_Missense_Mutation_p.R213Q	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	303			R -> W (in ADHD7; has severely reduced solubility and is completely inactive; loss of function may lead to a reduced serotonin synthesis which in turn makes the mutation carriers susceptible to ADHD and possibly other psychiatric disorders).		aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			ovary(2)|central_nervous_system(1)|skin(1)	4					L-Tryptophan(DB00150)	CAGTACATCCGGCATGGCTCA	0.542													A	72372834	G	A	72372834	3	1	114	1	0	0	0	0	1	0	0	0	16399	1116	39	1	934	1	TPH2	12	72372834	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	7556019	72372834	61479061	127	74533											
PPFIA2	8499	broad.mit.edu	37	chr12	81768413	81768413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttgttctagtgcagtacCttggttagggctgcaattct	11	8	2	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr12:81768413C>T	uc001szo.1	-	11	1427	c.1266G>A	c.(1264-1266)AAG>AAA	p.K422K	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	348										ovary(3)|lung(2)|pancreas(1)	6						AGTGCAGTACCTTGGTTAGGG	0.398													T	81768413	C	T	81768413	2	4	114	1	0	0	0	0	0	0	0	1	12310	695	24	4		4	PPFIA2	12	81768413	Silent	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	9395579	81768413	52083482	128	74534											
RNF17	56163	broad.mit.edu	37	chr13	25440297	25440297	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcagaaaccaagatcagatCatgataaaaagtatgaagag	8	5	3	6			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr13:25440297C>T	uc001upr.2	+	30	4158	c.4117C>T	c.(4117-4119)CAT>TAT	p.H1373Y	RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.H1369Y|RNF17_uc001ups.2_Missense_Mutation_p.H1312Y|RNF17_uc010aac.2_Missense_Mutation_p.H565Y|RNF17_uc010aad.2_Missense_Mutation_p.H383Y	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1373					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AAGATCAGATCATGATAAAAA	0.313													T	25440297	C	T	25440297	3	4	114	1	0	0	0	0	1	0	0	0	13461	826	29	4	4235	4	RNF17	13	25440297	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08		25440297	89729581	129	74535											
ATP8A2	51761	broad.mit.edu	37	chr13	26343356	26343356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaacaactcggattacGccatcgcacaggtcagcagc	8	16	1	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr13:26343356G>A	uc001uqk.2	+	26	2699	c.2557G>A	c.(2557-2559)GCC>ACC	p.A853T	ATP8A2_uc010tdi.1_Missense_Mutation_p.A813T|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.A403T	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	813	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTCGGATTACGCCATCGCACA	0.587													A	26343356	G	A	26343356	3	1	114	1	0	0	0	0	1	0	0	0	1193	1087	38	1	2659	1	ATP8A2	13	26343356	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	903059	26343356	88826522	130	74536											
WASF3	10810	broad.mit.edu	37	chr13	27216523	27216523	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tactcttgccgctatcatacGccagctgagcagtctgagta	9	12	3	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr13:27216523G>T	uc001uqv.2	+	3	341	c.116G>T	c.(115-117)CGC>CTC	p.R39L	WASF3_uc001uqw.2_Missense_Mutation_p.R39L	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	39					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			pancreas(1)	1	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GCTATCATACGCCAGCTGAGC	0.423													T	27216523	G	T	27216523	3	4	114	1	0	0	0	0	1	0	0	0	17251	1087	38	5	118	5	WASF3	13	27216523	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	873167	27216523	87953355	131	74537											
LCP1	3936	broad.mit.edu	37	chr13	46718575	46718575	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgagttcccaaatattcctAcctgtacaaatgattgactc	5	10	0	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr13:46718575A>T	uc001vaz.3	-	11	1379	c.1253_splice	c.e11+1	p.S418_splice	LCP1_uc010ack.2_5'Flank|LCP1_uc001vay.3_Intron|LCP1_uc001vba.3_Splice_Site_p.S418_splice	NM_002298	NP_002289	P13796	PLSL_HUMAN	L-plastin						regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			lung(4)|ovary(3)	7		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		AAATATTCCTACCTGTACAAA	0.418			T	BCL6	NHL 								T	46718575	A	T	46718575	5	4	114	1	0	0	0	0	0	0	1	0	8691	405	14	5	652	5	LCP1	13	46718575	Splice_Site	SNP	A	TCGA-BR-A4CQ-01A-12D-A25D-08	19502052	46718575	68451303	132	74538											
PCDH8	5100	broad.mit.edu	37	chr13	53421450	53421450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccgagtgcagcggcggcGgcggcagcggcgaagggtga	20	13	0	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr13:53421450G>A	uc001vhi.2	-	1	1325	c.1122C>T	c.(1120-1122)GCC>GCT	p.A374A	PCDH8_uc001vhj.2_Silent_p.A374A	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	374	Extracellular (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CAGCGGCGGCGGCGGCAGCGG	0.761													A	53421450	G	A	53421450	2	1	114	1	0	0	0	0	0	0	0	1	11517	1103	39	1		1	PCDH8	13	53421450	Silent	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	6702875	53421450	61748428	133	74539											
GAS6	2621	broad.mit.edu	37	chr13	114542799	114542799	+	Frame_Shift_Del	DEL	T	T	-													tccccttcctatcgcaggggTtgggcgtgcactggtcaggc							TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr13:114542799delT	uc001vud.2	-	5	521	c.368delA	c.(367-369)AACfs	p.N123fs	uc010tki.1_5'Flank	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	123	EGF-like 1; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				ATCGCAGGGGTTGGGCGTGCA	0.622													-	114542799	T	-	114542799	7	5	114	1	0	1	0	1	0	0	0	0	6249	1725	60	0	1712	0	GAS6	13	114542799	Frame_Shift_Del	DEL	T	TCGA-BR-A4CQ-01A-12D-A25D-08	61121349	114542799	627079	134	74540											
CDH24	64403	broad.mit.edu	37	chr14	23518308	23518308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagcagctgagaggtgagCctcaggccagcaggatgcca	14	13	1	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr14:23518308C>T	uc001wil.2	-	12	2148	c.1888G>A	c.(1888-1890)GCT>ACT	p.A630T	CDH24_uc001wik.3_RNA|CDH24_uc010akf.2_Missense_Mutation_p.A592T	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	630	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GAGAGGTGAGCCTCAGGCCAG	0.647													T	23518308	C	T	23518308	3	4	114	1	0	0	0	0	1	0	0	0	3109	739	26	2	579	2	CDH24	14	23518308	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08		23518308	83831232	135	74541											
NPAS3	64067	broad.mit.edu	37	chr14	34270262	34270262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccacgctgcccttccccGtctacagcaacggcatccac	6	20	2	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr14:34270262G>A	uc001wru.2	+	12	2813	c.2749G>A	c.(2749-2751)GTC>ATC	p.V917I	NPAS3_uc001wrs.2_Missense_Mutation_p.V904I|NPAS3_uc001wrt.2_Missense_Mutation_p.V885I|NPAS3_uc001wrv.2_Missense_Mutation_p.V887I	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	917					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GCCCTTCCCCGTCTACAGCAA	0.697													A	34270262	G	A	34270262	3	1	114	1	0	0	0	0	1	0	0	0	10564	1145	40	1	2850	1	NPAS3	14	34270262	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	10751954	34270262	73079278	136	74542											
EML5	161436	broad.mit.edu	37	chr14	89130844	89130844	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaaagtcttacctctaatAtcccaatcaatatgggttat	4	8	3	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr14:89130844A>G	uc001xxg.2	-	24	3588	c.3402T>C	c.(3400-3402)GAT>GAC	p.D1134D	EML5_uc001xxf.2_5'UTR|EML5_uc001xxh.1_Silent_p.D273D	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	1134						cytoplasm|microtubule				ovary(3)	3						TACCTCTAATATCCCAATCAA	0.308													G	89130844	A	G	89130844	2	3	114	1	0	0	0	0	0	0	0	1	5100	446	16	3		3	EML5	14	89130844	Silent	SNP	A	TCGA-BR-A4CQ-01A-12D-A25D-08	54860582	89130844	18218696	137	74543											
SMEK1	55671	broad.mit.edu	37	chr14	91937312	91937312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaacaattccaatacaagtGccaatagttgggcagtctga	8	8	1	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr14:91937312G>A	uc001xzn.2	-	10	2351	c.1529C>T	c.(1528-1530)GCA>GTA	p.A510V	SMEK1_uc001xzm.2_Missense_Mutation_p.A497V|SMEK1_uc001xzo.2_Missense_Mutation_p.A497V|SMEK1_uc010atz.2_Missense_Mutation_p.A271V|SMEK1_uc001xzp.1_RNA	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1	510						microtubule organizing center|nucleus	protein binding				0		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		CAATACAAGTGCCAATAGTTG	0.318													A	91937312	G	A	91937312	3	1	114	1	0	0	0	0	1	0	0	0	14793	1319	46	2	996	2	SMEK1	14	91937312	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	2806468	91937312	15412228	138	74544											
KIAA1409	57578	broad.mit.edu	37	chr14	94063796	94063796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctggcacatgccttctgCtgcttcctgacagcagtgga	10	14	1	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr14:94063796C>T	uc001ybv.1	+	21	2834	c.2751C>T	c.(2749-2751)TGC>TGT	p.C917C	KIAA1409_uc001ybs.1_Silent_p.C917C	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1094						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		ATGCCTTCTGCTGCTTCCTGA	0.493													T	94063796	C	T	94063796	2	4	114	1	0	0	0	0	0	0	0	1	8230	805	28	2		2	KIAA1409	14	94063796	Silent	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	2126484	94063796	13285744	139	74545											
RYR3	6263	broad.mit.edu	37	chr15	33936587	33936587	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagatgccagtaccttcaAgttttataccatgtgcggtc	9	10	1	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr15:33936587A>G	uc001zhi.2	+	28	3702	c.3632A>G	c.(3631-3633)AAG>AGG	p.K1211R	RYR3_uc010bar.2_Missense_Mutation_p.K1211R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1211	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGTACCTTCAAGTTTTATACC	0.517													G	33936587	A	G	33936587	3	3	114	1	0	0	0	0	1	0	0	0	13770	72	3	3	3742	3	RYR3	15	33936587	Missense_Mutation	SNP	A	TCGA-BR-A4CQ-01A-12D-A25D-08		33936587	68594805	140	74546											
DMXL2	23312	broad.mit.edu	37	chr15	51763453	51763453	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatcccacatactaagttcGggaggaataaatttttcttt	6	7	1	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr15:51763453G>A	uc002abf.2	-	29	7581	c.7356C>T	c.(7354-7356)CCC>CCT	p.P2452P	DMXL2_uc002abd.2_Silent_p.P523P|DMXL2_uc010ufy.1_Silent_p.P2453P|DMXL2_uc010bfa.2_Silent_p.P1816P	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2452						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		TACTAAGTTCGGGAGGAATAA	0.408													A	51763453	G	A	51763453	2	1	114	1	0	0	0	0	0	0	0	1	4595	1103	39	1		1	DMXL2	15	51763453	Silent	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	17826866	51763453	50767939	141	74547											
SNX1	6642	broad.mit.edu	37	chr15	64422454	64422454	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggagaagctccaggaggtaGagtgtgaggagcagcgctta	17	6	0	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr15:64422454G>C	uc002amv.2	+	10	985	c.949G>C	c.(949-951)GAG>CAG	p.E317Q	SNX1_uc010bgv.2_Missense_Mutation_p.E31Q|SNX1_uc010uio.1_Missense_Mutation_p.E317Q|SNX1_uc002amw.2_Missense_Mutation_p.E317Q|SNX1_uc002amx.2_Missense_Mutation_p.E252Q|SNX1_uc002amy.2_Missense_Mutation_p.E246Q|SNX1_uc010bgw.2_Missense_Mutation_p.E219Q	NM_003099	NP_003090	Q13596	SNX1_HUMAN	sorting nexin 1 isoform a	317	BAR.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity				0						CCAGGAGGTAGAGTGTGAGGA	0.448													C	64422454	G	C	64422454	3	2	114	1	0	0	0	0	1	0	0	0	14880	943	33	5	987	5	SNX1	15	64422454	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	12659001	64422454	38108938	142	74548											
RASGRF1	5923	broad.mit.edu	37	chr15	79339211	79339211	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgcacgtactcagccTcagcctccagcatgctgaac	9	16	2	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr15:79339211T>G	uc002beq.2	-	5	1130	c.755A>C	c.(754-756)GAG>GCG	p.E252A	RASGRF1_uc002bep.2_Missense_Mutation_p.E252A|RASGRF1_uc010blm.1_Missense_Mutation_p.E174A|RASGRF1_uc002ber.3_Missense_Mutation_p.E252A	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	252	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						GTACTCAGCCTCAGCCTCCAG	0.597													G	79339211	T	G	79339211	3	3	114	1	0	0	0	0	1	0	0	0	13072	1551	54	5	3162	5	RASGRF1	15	79339211	Missense_Mutation	SNP	T	TCGA-BR-A4CQ-01A-12D-A25D-08	14916757	79339211	23192181	143	74549											
CPEB1	64506	broad.mit.edu	37	chr15	83218272	83218272	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactccaccaaataggtcgTtcaagatggctgccagggcc	10	14	1	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr15:83218272T>G	uc002bit.2	-	9	1669	c.1532A>C	c.(1531-1533)AAC>ACC	p.N511T	CPEB1_uc002biq.2_Missense_Mutation_p.N371T|CPEB1_uc002bir.2_Missense_Mutation_p.N376T|CPEB1_uc002bis.2_Missense_Mutation_p.N371T|CPEB1_uc010uod.1_Missense_Mutation_p.N220T|CPEB1_uc010uoe.1_Missense_Mutation_p.N449T|CPEB1_uc002biu.2_Missense_Mutation_p.N473T|CPEB1_uc010uof.1_Missense_Mutation_p.N371T|CPEB1_uc002biv.2_Missense_Mutation_p.N446T|CPEB1_uc002bip.2_Missense_Mutation_p.N220T	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	451	RRM 2.|Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)			AAATAGGTCGTTCAAGATGGC	0.532													G	83218272	T	G	83218272	3	3	114	1	0	0	0	0	1	0	0	0	3800	1725	60	5	364	5	CPEB1	15	83218272	Missense_Mutation	SNP	T	TCGA-BR-A4CQ-01A-12D-A25D-08	3879061	83218272	19313120	144	74550											
MAN2A2	4122	broad.mit.edu	37	chr15	91459446	91459446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaagagaacctgcaaccGtttccgcctcctgctagagc	8	15	0	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr15:91459446G>A	uc010bnz.2	+	20	3069	c.2954G>A	c.(2953-2955)CGT>CAT	p.R985H	MAN2A2_uc002bqc.2_Missense_Mutation_p.R985H|MAN2A2_uc010uql.1_Missense_Mutation_p.R647H|MAN2A2_uc010uqm.1_Missense_Mutation_p.R564H|MAN2A2_uc010uqn.1_RNA	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	985					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ACCTGCAACCGTTTCCGCCTC	0.652													A	91459446	G	A	91459446	3	1	114	1	0	0	0	0	1	0	0	0	9215	1145	40	1	3028	1	MAN2A2	15	91459446	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	8241174	91459446	11071946	145	74551											
MSLN	10232	broad.mit.edu	37	chr16	817420	817420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgctcagtcagcagaatGtgagcatggacttggccacg	14	10	2	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr16:817420G>A	uc002cjw.1	+	15	1621	c.1570G>A	c.(1570-1572)GTG>ATG	p.V524M	MSLN_uc002cjt.1_Missense_Mutation_p.V516M|MSLN_uc002cju.1_Missense_Mutation_p.V516M|MSLN_uc010brd.1_Missense_Mutation_p.V515M|MSLN_uc002cjv.1_Missense_Mutation_p.V516M|MSLN_uc002cjx.1_Missense_Mutation_p.V516M|MSLN_uc002cjy.1_Missense_Mutation_p.V181M|MIR662_hsa-mir-662|MI0003670_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	mesothelin isoform 2 preproprotein	524					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				pancreas(1)	1		Hepatocellular(780;0.00335)				TCAGCAGAATGTGAGCATGGA	0.532													A	817420	G	A	817420	3	1	114	1	0	0	0	0	1	0	0	0	9881	1377	48	4	1624	4	MSLN	16	817420	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08		817420	89537333	146	74552											
A2BP1	54715	broad.mit.edu	37	chr16	7568167	7568167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtaatcaggaagcagccGctgcccctgacacaatggct	12	12	1	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr16:7568167G>A	uc002cys.2	+	5	1034	c.46G>A	c.(46-48)GCT>ACT	p.A16T	A2BP1_uc010buf.1_Missense_Mutation_p.A16T|A2BP1_uc002cyr.1_Missense_Mutation_p.A16T|A2BP1_uc002cyt.2_Missense_Mutation_p.A16T|A2BP1_uc010uxz.1_Missense_Mutation_p.A59T|A2BP1_uc010uya.1_Missense_Mutation_p.A52T|A2BP1_uc002cyv.1_Missense_Mutation_p.A16T|A2BP1_uc010uyb.1_Missense_Mutation_p.A16T|A2BP1_uc002cyw.2_Missense_Mutation_p.A36T|A2BP1_uc002cyy.2_Missense_Mutation_p.A36T|A2BP1_uc002cyx.2_Missense_Mutation_p.A36T|A2BP1_uc010uyc.1_Missense_Mutation_p.A36T	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	16					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		GGAAGCAGCCGCTGCCCCTGA	0.592													A	7568167	G	A	7568167	3	1	114	1	0	0	0	0	1	0	0	0	3	1087	38	1	143	1	A2BP1	16	7568167	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	6750747	7568167	82786586	147	74553											
SMG1	23049	broad.mit.edu	37	chr16	18883833	18883833	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctggtacaatgagaataCaatgtgtagagcacagcata	9	7	0	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr16:18883833C>T	uc002dfm.2	-	14	2367	c.2004G>A	c.(2002-2004)TTG>TTA	p.L668L	SMG1_uc010bwb.2_Silent_p.L528L	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	668	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						AATGAGAATACAATGTGTAGA	0.358													T	18883833	C	T	18883833	2	4	114	1	0	0	0	0	0	0	0	1	14795	477	17	4		4	SMG1	16	18883833	Silent	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	11315666	18883833	71470920	148	74554											
ZNF423	23090	broad.mit.edu	37	chr16	49671081	49671081	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcactgggggcacgcttgcTtccgcagcagcagctccagg	14	14	0	0	rs145272522	by1000genomes	TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr16:49671081T>G	uc002efs.2	-	5	2280	c.1982A>C	c.(1981-1983)AAG>ACG	p.K661T	ZNF423_uc010vgn.1_Missense_Mutation_p.K544T	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	661					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GCACGCTTGCTTCCGCAGCAG	0.557													G	49671081	T	G	49671081	3	3	114	1	0	0	0	0	1	0	0	0	17895	1609	56	5	1892	5	ZNF423	16	49671081	Missense_Mutation	SNP	T	TCGA-BR-A4CQ-01A-12D-A25D-08	30787248	49671081	40683672	149	74555											
SNX20	124460	broad.mit.edu	37	chr16	50709712	50709712	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agacttttctctcctcgatgCgagctgaagcgatctcaaag	9	11	2	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr16:50709712C>G	uc002egk.2	-	3	424	c.251G>C	c.(250-252)CGC>CCC	p.R84P	SNX20_uc010vgp.1_Missense_Mutation_p.R84P|SNX20_uc002egi.3_Missense_Mutation_p.R84P	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	sorting nexin 20 isoform 1	84	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			ovary(1)	1						CTCCTCGATGCGAGCTGAAGC	0.413													G	50709712	C	G	50709712	3	3	114	1	0	0	0	0	1	0	0	0	14892	768	27	5	850	5	SNX20	16	50709712	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	1038631	50709712	39645041	150	74556											
MMP2	4313	broad.mit.edu	37	chr16	55519277	55519277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgccttcgccccaggcaCtggtgttgggggagactccc	13	14	1	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr16:55519277C>T	uc002ehz.3	+	4	907	c.596C>T	c.(595-597)ACT>ATT	p.T199I	MMP2_uc010vhd.1_Missense_Mutation_p.T123I|MMP2_uc010ccc.2_Missense_Mutation_p.T149I	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	199	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GCCCCAGGCACTGGTGTTGGG	0.567													T	55519277	C	T	55519277	3	4	114	1	0	0	0	0	1	0	0	0	9658	565	20	4	617	4	MMP2	16	55519277	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	4809565	55519277	34835476	151	74557											
CDH3	1001	broad.mit.edu	37	chr16	68718510	68718510	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggattttgaggccaaaaacCagcacaccctgtacgttgaa	9	10	0	2	rs143523495	by1000genomes	TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr16:68718510C>T	uc002ewf.2	+	10	2339	c.1207C>T	c.(1207-1209)CAG>TAG	p.Q403*	CDH3_uc010vli.1_Nonsense_Mutation_p.Q348*	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	403	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GGCCAAAAACCAGCACACCCT	0.522													T	68718510	C	T	68718510	4	4	114	1	0	0	0	0	0	1	0	0	3111	595	21	4	1245	4	CDH3	16	68718510	Nonsense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	13199233	68718510	21636243	152	74558											
BCMO1	53630	broad.mit.edu	37	chr16	81298282	81298282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggcggtaaatctggcaaCgtcacatccccattatgatg	10	11	2	1	rs119478057	byFrequency	TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr16:81298282C>T	uc002fgn.1	+	5	727	c.509C>T	c.(508-510)ACG>ATG	p.T170M	BCMO1_uc010vnp.1_Missense_Mutation_p.T101M	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase	170			T -> M (in ADHVAD; has about 90% decreased enzyme activity compared to wild-type; no evidence for a dominant- negative effect; consistent with a loss- of-function mutation resulting in haploinsufficiency).		retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity				0						AATCTGGCAACGTCACATCCC	0.403													T	81298282	C	T	81298282	3	4	114	1	0	0	0	0	1	0	0	0	1384	536	19	1	527	1	BCMO1	16	81298282	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	12579772	81298282	9056471	153	74559											
JPH3	57338	broad.mit.edu	37	chr16	87678559	87678559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcgggccagcaagatcCgcgagaaggtggaccgcgcc	15	15	0	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr16:87678559C>T	uc002fkd.2	+	2	1332	c.1078C>T	c.(1078-1080)CGC>TGC	p.R360C	JPH3_uc010vou.1_RNA	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	360	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CAGCAAGATCCGCGAGAAGGT	0.672													T	87678559	C	T	87678559	3	4	114	1	0	0	0	0	1	0	0	0	7962	652	23	1	1084	1	JPH3	16	87678559	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	6380277	87678559	2676194	154	74560											
TP53	7157	broad.mit.edu	37	chr17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagcgctcatggtgggggCagcgcctcacaacctccgtc	13	15	2	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr17:7578403C>A	uc002gim.2	-	5	721	c.527G>T	c.(526-528)TGC>TTC	p.C176F	TP53_uc002gig.1_Missense_Mutation_p.C176F|TP53_uc002gih.2_Missense_Mutation_p.C176F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44F|TP53_uc010cng.1_Missense_Mutation_p.C44F|TP53_uc002gii.1_Missense_Mutation_p.C44F|TP53_uc010cnh.1_Missense_Mutation_p.C176F|TP53_uc010cni.1_Missense_Mutation_p.C176F|TP53_uc002gij.2_Missense_Mutation_p.C176F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83F|TP53_uc002gio.2_Missense_Mutation_p.C44F|TP53_uc010vug.1_Missense_Mutation_p.C137F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	176	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176F(102)|p.C176Y(56)|p.C176S(19)|p.C176W(11)|p.C176R(8)|p.C176fs*71(7)|p.0?(7)|p.C176*(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176G(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.C83Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C176fs*6(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGTGGGGGCAGCGCCTCAC	0.652		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7578403	C	A	7578403	3	1	114	1	0	0	0	0	1	0	0	0	16378	710	25	5	771	5	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08		7578403	73616807	155	74561											
EVI2B	2124	broad.mit.edu	37	chr17	29631447	29631447	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgagtcaagcggtggaaatGattgtattatctcagattta	11	4	2	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr17:29631447G>T	uc002hgk.2	-	2	1336	c.1181C>A	c.(1180-1182)TCA>TAA	p.S394*	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Nonsense_Mutation_p.S409*	NM_006495	NP_006486	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B precursor	394	Cytoplasmic (Potential).					cytoplasm|integral to plasma membrane				ovary(2)	2		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		CGGTGGAAATGATTGTATTAT	0.413													T	29631447	G	T	29631447	4	4	114	1	0	0	0	0	0	1	0	0	5288	1294	45	5	169	5	EVI2B	17	29631447	Nonsense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	22053044	29631447	51563763	156	74562											
C17orf98	388381	broad.mit.edu	37	chr17	36991500	36991500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgctctgacggagggctGgagtgttcctgcggtagcca	16	10	1	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr17:36991500G>A	uc002hqv.2	-	3	407	c.407C>T	c.(406-408)CCA>CTA	p.P136L		NM_001080465	NP_001073934	A8MV24	CQ098_HUMAN	hypothetical protein LOC388381	136											0						ACGGAGGGCTGGAGTGTTCCT	0.527													A	36991500	G	A	36991500	3	1	114	1	0	0	0	0	1	0	0	0	1893	1348	47	4	61	4	C17orf98	17	36991500	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	7360053	36991500	44203710	157	74563											
RUNDC1	146923	broad.mit.edu	37	chr17	41143004	41143004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccaaccctgtggcagagGgtccaggctgacagagacta	12	13	0	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr17:41143004G>A	uc002ici.1	+	5	1125	c.1113G>A	c.(1111-1113)AGG>AGA	p.R371R	RUNDC1_uc010whi.1_Silent_p.R141R	NM_173079	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	371											0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TGTGGCAGAGGGTCCAGGCTG	0.597													A	41143004	G	A	41143004	2	1	114	1	0	0	0	0	0	0	0	1	13742	1223	43	4		4	RUNDC1	17	41143004	Silent	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	4151504	41143004	40052206	158	74564											
FZD2	2535	broad.mit.edu	37	chr17	42636499	42636499	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcgtcatcgcttgctacttCtacgagcaggccttccgcga	9	14	2	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr17:42636499C>T	uc002igx.1	+	1	1575	c.1443C>T	c.(1441-1443)TTC>TTT	p.F481F		NM_001466	NP_001457	Q14332	FZD2_HUMAN	frizzled 2 precursor	481	Helical; Name=6; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTTGCTACTTCTACGAGCAGG	0.647													T	42636499	C	T	42636499	2	4	114	1	0	0	0	0	0	0	0	1	6130	912	32	4		4	FZD2	17	42636499	Silent	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	1493495	42636499	38558711	159	74565											
NFE2L1	4779	broad.mit.edu	37	chr17	46128574	46128574	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggacgtggatacttacCtgacctcacagcttccccca	10	14	1	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr17:46128574C>T	uc002imz.3	+	2	745	c.94C>T	c.(94-96)CTG>TTG	p.L32L	NFE2L1_uc002ina.3_Silent_p.L32L|NFE2L1_uc002inb.3_Silent_p.L32L|NFE2L1_uc002inc.1_Silent_p.L32L	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	32					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			skin(1)	1						GGATACTTACCTGACCTCACA	0.507													T	46128574	C	T	46128574	2	4	114	1	0	0	0	0	0	0	0	1	10367	680	24	4		4	NFE2L1	17	46128574	Silent	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	3492075	46128574	35066636	160	74566											
BZRAP1	9256	broad.mit.edu	37	chr17	56386420	56386420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagccccctcctctcctccGgctgcttccaccaactaatc	6	20	1	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr17:56386420G>A	uc002ivx.3	-	22	5084	c.4213C>T	c.(4213-4215)CGG>TGG	p.R1405W	BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_Missense_Mutation_p.R1345W|BZRAP1_uc010wnt.1_Missense_Mutation_p.R1405W	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	1405						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTCTCCTCCGGCTGCTTCCA	0.637													A	56386420	G	A	56386420	3	1	114	1	0	0	0	0	1	0	0	0	1577	1115	39	1	1400	1	BZRAP1	17	56386420	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	10257846	56386420	24808790	161	74567											
BZRAP1	9256	broad.mit.edu	37	chr17	56396519	56396519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggtggtgggcagtctccaAggctcccacagtccagggca	16	12	1	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr17:56396519A>G	uc002ivx.3	-	13	2502	c.1631T>C	c.(1630-1632)CTT>CCT	p.L544P	BZRAP1_uc010dcs.2_Missense_Mutation_p.L484P|BZRAP1_uc010wnt.1_Missense_Mutation_p.L544P	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	544						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGTCTCCAAGGCTCCCACA	0.647													G	56396519	A	G	56396519	3	3	114	1	0	0	0	0	1	0	0	0	1577	72	3	3	4018	3	BZRAP1	17	56396519	Missense_Mutation	SNP	A	TCGA-BR-A4CQ-01A-12D-A25D-08	10099	56396519	24798691	162	74568											
RGS9	8787	broad.mit.edu	37	chr17	63200369	63200369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggctgaagcacccccacCgctatgtgctggacgccgca	13	15	0	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr17:63200369C>T	uc002jfe.2	+	15	1263	c.1153C>T	c.(1153-1155)CGC>TGC	p.R385C	RGS9_uc010dem.2_Missense_Mutation_p.R382C|RGS9_uc002jfd.2_Missense_Mutation_p.R382C|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.R156C	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	385	RGS.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4						GCACCCCCACCGCTATGTGCT	0.587													T	63200369	C	T	63200369	3	4	114	1	0	0	0	0	1	0	0	0	13313	652	23	1	1211	1	RGS9	17	63200369	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	6803850	63200369	17994841	163	74569											
AXIN2	8313	broad.mit.edu	37	chr17	63532604	63532604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccccacagatggtgccGgctggctcgttcgcctggag	14	16	0	1	rs142670753		TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr17:63532604G>A	uc002jfi.2	-	8	2264	c.1975C>T	c.(1975-1977)CGG>TGG	p.R659W	AXIN2_uc002jfh.2_Missense_Mutation_p.R594W	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	659					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						AGATGGTGCCGGCTGGCTCGT	0.632									Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				A	63532604	G	A	63532604	3	1	114	1	0	0	0	0	1	0	0	0	1237	1115	39	1	572	1	AXIN2	17	63532604	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	332235	63532604	17662606	164	74570											
GPRC5C	55890	broad.mit.edu	37	chr17	72428204	72428204	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcgtggcagtcaacagcaAcaacccacacgccggcaggg	14	14	1	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr17:72428204A>G	uc002jkp.2	+	1	538	c.27A>G	c.(25-27)CAA>CAG	p.Q9Q	GPRC5C_uc002jkq.2_Silent_p.Q9Q|GPRC5C_uc002jkr.2_5'Flank	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor family C, group 5,	Error:Variant_position_missing_in_Q9NQ84_after_alignment						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1)	5						GTCAACAGCAACAACCCACAC	0.682													G	72428204	A	G	72428204	2	3	114	1	0	0	0	0	0	0	0	1	6726	40	2	3		3	GPRC5C	17	72428204	Silent	SNP	A	TCGA-BR-A4CQ-01A-12D-A25D-08	8895600	72428204	8767006	165	74571											
SLC14A2	8170	broad.mit.edu	37	chr18	43262407	43262407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctacccagaggccaacCgcatctactacctgtcccag	6	18	2	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr18:43262407C>T	uc010dnj.2	+	21	3007	c.2686C>T	c.(2686-2688)CGC>TGC	p.R896C	SLC14A2_uc002lbe.2_Missense_Mutation_p.R896C	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	896						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						AGAGGCCAACCGCATCTACTA	0.512													T	43262407	C	T	43262407	3	4	114	1	0	0	0	0	1	0	0	0	14397	652	23	1	2760	1	SLC14A2	18	43262407	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08		43262407	34814841	166	74572											
DCC	1630	broad.mit.edu	37	chr18	50994343	50994343	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccgagccccccgggccaaGctcatgattcccatggatgc	11	17	1	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr18:50994343G>T	uc002lfe.1	+	25	4286	c.3699G>T	c.(3697-3699)AAG>AAT	p.K1233N	DCC_uc010dpf.1_Missense_Mutation_p.K868N	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1233	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCCGGGCCAAGCTCATGATTC	0.488													T	50994343	G	T	50994343	3	4	114	1	0	0	0	0	1	0	0	0	4282	962	34	5	3797	5	DCC	18	50994343	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	7731936	50994343	27082905	167	74573											
MUC16	94025	broad.mit.edu	37	chr19	9010994	9010994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgggggccacagagctcCgatgggtgaaacctgcatag	16	9	0	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr19:9010994C>T	uc002mkp.2	-	37	39128	c.38924G>A	c.(38923-38925)CGG>CAG	p.R12975Q	MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CACAGAGCTCCGATGGGTGAA	0.532													T	9010994	C	T	9010994	3	4	114	1	0	0	0	0	1	0	0	0	9973	652	23	1	4791	1	MUC16	19	9010994	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08		9010994	50117989	168	74574											
MUC16	94025	broad.mit.edu	37	chr19	9073053	9073053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatactttgaggtgaactgGtcactgtttctaagcttgta	9	7	3	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr19:9073053G>A	uc002mkp.2	-	3	14597	c.14393C>T	c.(14392-14394)ACC>ATC	p.T4798I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4800	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGGTGAACTGGTCACTGTTTC	0.453													A	9073053	G	A	9073053	3	1	114	1	0	0	0	0	1	0	0	0	9973	1261	44	4	29458	4	MUC16	19	9073053	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	62059	9073053	50055930	169	74575											
MUC16	94025	broad.mit.edu	37	chr19	9076960	9076960	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tacattggccctcagagtctCaagccctattgaaggagatg	10	10	2	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr19:9076960C>G	uc002mkp.2	-	3	10690	c.10486G>C	c.(10486-10488)GAG>CAG	p.E3496Q		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3497	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTCAGAGTCTCAAGCCCTATT	0.512													G	9076960	C	G	9076960	3	3	114	1	0	0	0	0	1	0	0	0	9973	835	29	5	33365	5	MUC16	19	9076960	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	3907	9076960	50052023	170	74576											
TRMT1	55621	broad.mit.edu	37	chr19	13226181	13226181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccacagcccgggtggaggCatcgtttgcaaccacagatc	11	13	0	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr19:13226181C>T	uc002mwj.2	-	4	803	c.553G>A	c.(553-555)GCC>ACC	p.A185T	NACC1_uc002mwm.2_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.A185T|TRMT1_uc002mwl.3_Missense_Mutation_p.A185T|TRMT1_uc010xmz.1_5'UTR	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	185							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CGGGTGGAGGCATCGTTTGCA	0.602													T	13226181	C	T	13226181	3	4	114	1	0	0	0	0	1	0	0	0	16558	710	25	2	1478	2	TRMT1	19	13226181	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	4149221	13226181	45902802	171	74577											
ZNF430	80264	broad.mit.edu	37	chr19	21240536	21240536	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cggtccccaaaacttactgcAcataaggtaattcattctgg	7	11	2	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr19:21240536A>T	uc002npj.2	+	5	1532	c.1422A>T	c.(1420-1422)GCA>GCT	p.A474A	ZNF430_uc002npk.2_Silent_p.A473A	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	474	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2						AACTTACTGCACATAAGGTAA	0.373													T	21240536	A	T	21240536	2	4	114	1	0	0	0	0	0	0	0	1	17901	146	6	5		5	ZNF430	19	21240536	Silent	SNP	A	TCGA-BR-A4CQ-01A-12D-A25D-08	8014355	21240536	37888447	172	74578											
ANKRD27	84079	broad.mit.edu	37	chr19	33106644	33106644	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcactgacagtgtcctccgCatcctccaggtcctcctctg	8	17	1	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr19:33106644C>A	uc002ntn.1	-	22	2251	c.2095G>T	c.(2095-2097)GCG>TCG	p.A699S		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	699					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)					GTGTCCTCCGCATCCTCCAGG	0.547													A	33106644	C	A	33106644	3	1	114	1	0	0	0	0	1	0	0	0	655	710	25	5	1089	5	ANKRD27	19	33106644	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	11866108	33106644	26022339	173	74579											
CEBPG	1054	broad.mit.edu	37	chr19	33870289	33870289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcaaagctgtggctccCagcaagcagagcaaaaagag	14	9	0	2			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr19:33870289C>T	uc002nup.2	+	2	433	c.144C>T	c.(142-144)CCC>CCT	p.P48P		NM_001806	NP_001797	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein gamma	48					B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0	Esophageal squamous(110;0.137)					CTGTGGCTCCCAGCAAGCAGA	0.557													T	33870289	C	T	33870289	2	4	114	1	0	0	0	0	0	0	0	1	3203	581	21	4		4	CEBPG	19	33870289	Silent	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	763645	33870289	25258694	174	74580											
ZNF566	84924	broad.mit.edu	37	chr19	36940522	36940522	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agggatgtctaaaggactttCcacattccttacattcataa	6	9	2	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr19:36940522C>A	uc002oea.3	-	5	696	c.614G>T	c.(613-615)GGA>GTA	p.G205V	ZNF566_uc010xte.1_Missense_Mutation_p.G205V|ZNF566_uc010xtf.1_Missense_Mutation_p.G206V|ZNF566_uc002oeb.3_Missense_Mutation_p.G205V|ZNF566_uc002oec.3_Missense_Mutation_p.G101V|ZNF566_uc010xtg.1_Missense_Mutation_p.G101V	NM_032838	NP_116227	Q969W8	ZN566_HUMAN	zinc finger protein 566 isoform 1	205	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)					AAAGGACTTTCCACATTCCTT	0.363													A	36940522	C	A	36940522	3	1	114	1	0	0	0	0	1	0	0	0	17994	855	30	5	646	5	ZNF566	19	36940522	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	3070233	36940522	22188461	175	74581											
B9D2	80776	broad.mit.edu	37	chr19	41863923	41863923	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgacaggagcttccatgcCgcccctgcagtgagagccgg	13	15	0	2	rs142424836	by1000genomes	TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr19:41863923C>T	uc002oqj.2	-	3	313	c.93G>A	c.(91-93)GCG>GCA	p.A31A	CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Intron	NM_030578	NP_085055	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	31	B9.				cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			ovary(1)	1						GCTTCCATGCCGCCCCTGCAG	0.627													T	41863923	C	T	41863923	2	4	114	1	0	0	0	0	0	0	0	1	1278	639	23	1		1	B9D2	19	41863923	Silent	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	4923401	41863923	17265060	176	74582											
GPR77	27202	broad.mit.edu	37	chr19	47844598	47844598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcaccaggagcacttccCagcccggctgcagtgtgtgg	14	14	0	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr19:47844598C>T	uc010ela.1	+	2	760	c.542C>T	c.(541-543)CCA>CTA	p.P181L	GPR77_uc002pgk.1_Missense_Mutation_p.P181L	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	G protein-coupled receptor 77	181	Extracellular (Potential).				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			ovary(1)	1		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		GAGCACTTCCCAGCCCGGCTG	0.677													T	47844598	C	T	47844598	3	4	114	1	0	0	0	0	1	0	0	0	6709	594	21	4	544	4	GPR77	19	47844598	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	5980675	47844598	11284385	177	74583											
KPTN	11133	broad.mit.edu	37	chr19	47981013	47981013	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccacgagcacgctgtactcAtcttgtagtggcctgtcctt	10	13	2	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr19:47981013A>G	uc002pgy.2	-	9	917	c.813T>C	c.(811-813)GAT>GAC	p.D271D	KPTN_uc010xys.1_RNA	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	271					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			ovary(1)	1		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		CGCTGTACTCATCTTGTAGTG	0.388													G	47981013	A	G	47981013	2	3	114	1	0	0	0	0	0	0	0	1	8437	214	8	3		3	KPTN	19	47981013	Silent	SNP	A	TCGA-BR-A4CQ-01A-12D-A25D-08	136415	47981013	11147970	178	74584											
SCAF1	58506	broad.mit.edu	37	chr19	50161535	50161535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcgggcctacgtccagcGctaccgctacttccgcaagc	12	16	0	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr19:50161535G>A	uc002poq.2	+	11	3942	c.3818G>A	c.(3817-3819)CGC>CAC	p.R1273H		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1273	Necessary for interaction with the CTD domain of POLR2A.				mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TACGTCCAGCGCTACCGCTAC	0.682													A	50161535	G	A	50161535	3	1	114	1	0	0	0	0	1	0	0	0	13868	1087	38	1	3856	1	SCAF1	19	50161535	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	2180522	50161535	8967448	179	74585											
ZNF320	162967	broad.mit.edu	37	chr19	53367302	53367302	+	RNA	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcacccacagactccaggttCctgtagttctcccacatcac	5	17	3	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr19:53367302C>A	uc010eqh.1	-	3		c.375G>T			ZNF320_uc010eqi.1_RNA			A2RRD8	ZN320_HUMAN	Homo sapiens full length insert cDNA clone ZD42C02.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		ACTCCAGGTTCCTGTAGTTCT	0.458													A	53367302	C	A	53367302	1	1	114	0	1	0	0	0	0	0	0	0	17836	870	30	5		5	ZNF320	19	53367302	RNA	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	3205767	53367302	5761681	180	74586											
NLRP2	55655	broad.mit.edu	37	chr19	55494466	55494466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagacgtccgtgcttcaccGagaggatctggaaaggctcg	14	11	2	2	rs147804224	byFrequency	TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr19:55494466G>A	uc002qij.2	+	6	1486	c.1400G>A	c.(1399-1401)CGA>CAA	p.R467Q	NLRP2_uc010yfp.1_Missense_Mutation_p.R444Q|NLRP2_uc010esn.2_Missense_Mutation_p.R443Q|NLRP2_uc010eso.2_Missense_Mutation_p.R464Q|NLRP2_uc010esp.2_Missense_Mutation_p.R445Q	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	467	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTGCTTCACCGAGAGGATCTG	0.687													A	55494466	G	A	55494466	3	1	114	1	0	0	0	0	1	0	0	0	10477	1058	37	1	1418	1	NLRP2	19	55494466	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	2127164	55494466	3634517	181	74587											
NLRP13	126204	broad.mit.edu	37	chr19	56419255	56419255	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctgaagttcagatgggtcaGcttgctgttaccctgaaggg	14	8	2	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr19:56419255G>C	uc010ygg.1	-	7	2375	c.2350C>G	c.(2350-2352)CTG>GTG	p.L784V		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	784	LRR 2.						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGATGGGTCAGCTTGCTGTTA	0.488													C	56419255	G	C	56419255	3	2	114	1	0	0	0	0	1	0	0	0	10475	962	34	5	799	5	NLRP13	19	56419255	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	924789	56419255	2709728	182	74588											
FAM110A	83541	broad.mit.edu	37	chr20	825521	825521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctgcggaccagggtccCtggctacctgctacgggggc	15	16	0	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr20:825521C>T	uc002wef.1	+	2	410	c.74C>T	c.(73-75)CCT>CTT	p.P25L	FAM110A_uc002weg.1_Missense_Mutation_p.P25L|FAM110A_uc002weh.1_Missense_Mutation_p.P25L|FAM110A_uc010fzz.2_5'Flank	NM_001042353	NP_001035812	Q9BQ89	F110A_HUMAN	hypothetical protein LOC83541	25						microtubule organizing center|spindle pole	protein binding				0						ACCAGGGTCCCTGGCTACCTG	0.692													T	825521	C	T	825521	3	4	114	1	0	0	0	0	1	0	0	0	5396	681	24	4	76	4	FAM110A	20	825521	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08		825521	62199999	183	74589											
SLC4A11	83959	broad.mit.edu	37	chr20	3218214	3218214	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctcgaagtatccattctGcgacatggtgggagagtttt	11	8	1	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr20:3218214G>A	uc002wig.2	-	1	160	c.112C>T	c.(112-114)CAG>TAG	p.Q38*	SLC4A11_uc010zqe.1_Nonsense_Mutation_p.Q65*|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Nonsense_Mutation_p.Q22*	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	38	Cytoplasmic (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						TATCCATTCTGCGACATGGTG	0.587													A	3218214	G	A	3218214	4	1	114	1	0	0	0	0	0	1	0	0	14652	1328	46	2	2639	2	SLC4A11	20	3218214	Nonsense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	2392693	3218214	59807306	184	74590											
SMOX	54498	broad.mit.edu	37	chr20	4163097	4163097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggactgtgagctgatccCggcggaccatgtgattgtga	15	9	0	4	rs138153642		TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr20:4163097C>T	uc002wkm.1	+	5	1172	c.971C>T	c.(970-972)CCG>CTG	p.P324L	SMOX_uc002wkk.1_Intron|SMOX_uc002wkl.1_Intron|SMOX_uc002wkn.1_Intron|SMOX_uc002wkp.2_Missense_Mutation_p.P324L|SMOX_uc010zqo.1_Intron|SMOX_uc002wko.1_Missense_Mutation_p.P324L	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	spermine oxidase isoform 1	324					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)	1					Spermine(DB00127)	GAGCTGATCCCGGCGGACCAT	0.642													T	4163097	C	T	4163097	3	4	114	1	0	0	0	0	1	0	0	0	14803	652	23	1	985	1	SMOX	20	4163097	Missense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08	944883	4163097	58862423	185	74591											
CST2	1470	broad.mit.edu	37	chr20	23805914	23805914	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgggacttggtacatatgGttcggcccacctctatgtcg	12	11	1	0			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr20:23805914G>T	uc002wtq.1	-	2	290	c.275C>A	c.(274-276)ACC>AAC	p.T92N		NM_001322	NP_001313	P09228	CYTT_HUMAN	cystatin SA precursor	92						extracellular region	cysteine-type endopeptidase inhibitor activity				0						GGTACATATGGTTCGGCCCAC	0.547													T	23805914	G	T	23805914	3	4	114	1	0	0	0	0	1	0	0	0	3972	1261	44	5	158	5	CST2	20	23805914	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	19642817	23805914	39219606	186	74592											
TSHZ2	128553	broad.mit.edu	37	chr20	51871962	51871962	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtcccctgaaggaggaggaGaagctgatgaaagagggcag	18	6	0	5			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr20:51871962G>T	uc002xwo.2	+	2	2921	c.1965G>T	c.(1963-1965)GAG>GAT	p.E655D		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	655					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			AGGAGGAGGAGAAGCTGATGA	0.597													T	51871962	G	T	51871962	3	4	114	1	0	0	0	0	1	0	0	0	16621	933	33	5	1971	5	TSHZ2	20	51871962	Missense_Mutation	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	28066048	51871962	11153558	187	74593											
BRWD1	54014	broad.mit.edu	37	chr21	40627657	40627657	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagcaatctgactgcgtggAgcgttttgatgcatctgacg	13	8	2	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr21:40627657A>G	uc002yxk.1	-	19	2308	c.2169T>C	c.(2167-2169)GCT>GCC	p.A723A	BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Silent_p.A723A|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_Silent_p.A176A|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_Intron|BRWD1_uc010goi.1_Silent_p.A443A	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	723					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GACTGCGTGGAGCGTTTTGAT	0.463													G	40627657	A	G	40627657	2	3	114	1	0	0	0	0	0	0	0	1	1525	291	11	3		3	BRWD1	21	40627657	Silent	SNP	A	TCGA-BR-A4CQ-01A-12D-A25D-08		40627657	7502238	188	74594											
TBC1D10A	83874	broad.mit.edu	37	chr22	30689913	30689913	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caagcccagcccagtaccttCacagaagaacatgtcccaga	7	15	1	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr22:30689913C>A	uc011akt.1	-	7	916	c.892G>T	c.(892-894)GAA>TAA	p.E298*	GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_Nonsense_Mutation_p.E156*|TBC1D10A_uc003ahj.3_Nonsense_Mutation_p.E210*|TBC1D10A_uc010gvu.2_Nonsense_Mutation_p.E305*|TBC1D10A_uc003ahk.3_Nonsense_Mutation_p.E298*	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	298	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			ovary(1)	1						CCAGTACCTTCACAGAAGAAC	0.572													A	30689913	C	A	30689913	4	1	114	1	0	0	0	0	0	1	0	0	15595	835	29	5	646	5	TBC1D10A	22	30689913	Nonsense_Mutation	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08		30689913	20614653	189	74595											
PANX2	56666	broad.mit.edu	37	chr22	50615660	50615660	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcggccgagggccgcgcGcccaagatcgagaagcagat	17	13	0	3			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chr22:50615660G>A	uc003bjn.3	+	2	519	c.519G>A	c.(517-519)GCG>GCA	p.A173A	PANX2_uc003bjp.3_Silent_p.A39A|PANX2_uc003bjo.3_Silent_p.A173A	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	173	Cytoplasmic (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		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)		AGGGCCGCGCGCCCAAGATCG	0.657													A	50615660	G	A	50615660	2	1	114	1	0	0	0	0	0	0	0	1	11421	1074	38	1		1	PANX2	22	50615660	Silent	SNP	G	TCGA-BR-A4CQ-01A-12D-A25D-08	19925747	50615660	688906	190	74596											
KDM5C	8242	broad.mit.edu	37	chrX	53243871	53243871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagtggggaggccttacCgccatgacacactttgggca	15	10	0	1			TCGA-BR-A4CQ-01A-12D-A25D-08	TCGA-BR-A4CQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890f6174-6b66-43a0-a669-1e45b3b86963	51dbd017-e043-4ae0-86d5-a4a2dd76bf2c	g.chrX:53243871C>T	uc004drz.2	-	8	1655	c.1122G>A	c.(1120-1122)GCG>GCA	p.A374A	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Silent_p.A307A|KDM5C_uc004dsa.2_Silent_p.A373A	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	374					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						GAGGCCTTACCGCCATGACAC	0.557			N|F|S		clear cell renal carcinoma								T	53243871	C	T	53243871	2	4	114	1	0	0	0	0	0	0	0	1	8135	666	23	1		1	KDM5C	23	53243871	Silent	SNP	C	TCGA-BR-A4CQ-01A-12D-A25D-08		53243871	102026689	191	74597											
PRDM16	63976	broad.mit.edu	37	chr1	3334448	3334448	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctttgcagccatgaaggcGgactcgggcagctccctgca	13	13	0	1			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr1:3334448G>A	uc001akf.2	+	11	2828	c.2748G>A	c.(2746-2748)GCG>GCA	p.A916A	PRDM16_uc001akc.2_Silent_p.A915A|PRDM16_uc001akd.2_Silent_p.A915A|PRDM16_uc001ake.2_Silent_p.A916A|PRDM16_uc009vlh.2_Silent_p.A616A	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	916	Mediates interaction with SKI and regulation of TGF-beta signaling.|Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCATGAAGGCGGACTCGGGCA	0.602			T	EVI1	MDS|AML								A	3334448	G	A	3334448	2	1	115	1	0	0	0	0	0	0	0	1	12457	1103	39	1		1	PRDM16	1	3334448	Silent	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08		3334448	245916173	1	74598											
PIK3CD	5293	broad.mit.edu	37	chr1	9784136	9784136	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcgacaacatcatgatcCgagagagtgggcaggtacag	13	9	1	2			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr1:9784136C>T	uc001aqb.3	+	21	2912	c.2704C>T	c.(2704-2706)CGA>TGA	p.R902*	PIK3CD_uc010oaf.1_Nonsense_Mutation_p.R901*|PIK3CD_uc001aqe.3_Nonsense_Mutation_p.R926*	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	902	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(4)|skin(2)|central_nervous_system(1)	7	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CATCATGATCCGAGAGAGTGG	0.612													T	9784136	C	T	9784136	4	4	115	1	0	0	0	0	0	1	0	0	11915	644	23	1	2778	1	PIK3CD	1	9784136	Nonsense_Mutation	SNP	C	TCGA-BR-A4CR-01A-11D-A24D-08	6449688	9784136	239466485	2	74599											
VPS13D	55187	broad.mit.edu	37	chr1	12429548	12429548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtctttactcagcatggCgtagctgaacccaggctccg	11	12	2	1			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr1:12429548C>T	uc001atv.2	+	54	10740	c.10599C>T	c.(10597-10599)GGC>GGT	p.G3533G	VPS13D_uc001atw.2_Silent_p.G3508G|VPS13D_uc001atx.2_Silent_p.G2720G|VPS13D_uc009vnl.2_RNA	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3532					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTCAGCATGGCGTAGCTGAAC	0.498													T	12429548	C	T	12429548	2	4	115	1	0	0	0	0	0	0	0	1	17189	755	27	1		1	VPS13D	1	12429548	Silent	SNP	C	TCGA-BR-A4CR-01A-11D-A24D-08	2645412	12429548	236821073	3	74600											
PEF1	553115	broad.mit.edu	37	chr1	32098238	32098238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttggtcttgtcaaacatGtctgaaggtgaggagggaaa	14	5	3	2			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr1:32098238G>A	uc001bth.1	-	4	495	c.483C>T	c.(481-483)AAC>AAT	p.N161N	PEF1_uc001bte.1_5'UTR|PEF1_uc001btf.1_5'UTR|PEF1_uc001btg.1_Silent_p.N91N	NM_012392	NP_036524	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	161	EF-hand 2.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity				0		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		TGTCAAACATGTCTGAAGGTG	0.557													A	32098238	G	A	32098238	2	1	115	1	0	0	0	0	0	0	0	1	11718	1391	48	4		4	PEF1	1	32098238	Silent	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08	19668690	32098238	217152383	4	74601											
FAM183A	440585	broad.mit.edu	37	chr1	43621984	43621984	+	Nonstop_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagatgatcaccacaagtaGcatcccagcggatgagccca	11	12	1	3			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr1:43621984G>T	uc009vwo.2	+	4	434	c.405G>T	c.(403-405)TAG>TAT	p.*135Y		NM_001101376	NP_001094846	A6NL82	F183A_HUMAN	hCG23177	135										ovary(3)	3						ACCACAAGTAGCATCCCAGCG	0.463													T	43621984	G	T	43621984	4	4	115	1	0	0	0	0	0	0	0	0	5510	966	34	5	419	5	FAM183A	1	43621984	Nonstop_Mutation	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08	11523746	43621984	205628637	5	74602											
ST7L	54879	broad.mit.edu	37	chr1	113126609	113126609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttactcagttgagcttcatGctgaggactttggtgctggc	12	9	2	2			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr1:113126609G>A	uc001ecd.2	-	7	1146	c.841C>T	c.(841-843)CAT>TAT	p.H281Y	ST7L_uc009wgh.2_Intron|ST7L_uc001ecc.2_Missense_Mutation_p.H98Y|ST7L_uc010owg.1_Missense_Mutation_p.H216Y|ST7L_uc010owh.1_Intron|ST7L_uc001ece.2_Missense_Mutation_p.H281Y|ST7L_uc001ecf.2_Missense_Mutation_p.H264Y|ST7L_uc001ecg.2_RNA|ST7L_uc010owi.1_Missense_Mutation_p.H216Y|ST7L_uc001ech.2_Missense_Mutation_p.H264Y|ST7L_uc001eci.2_Missense_Mutation_p.H281Y|ST7L_uc009wgi.1_RNA|ST7L_uc010owj.1_Missense_Mutation_p.H264Y	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7-like isoform 1	281					negative regulation of cell growth	integral to membrane	binding				0	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAGCTTCATGCTGAGGACTT	0.373													A	113126609	G	A	113126609	3	1	115	1	0	0	0	0	1	0	0	0	15229	1319	46	2	961	2	ST7L	1	113126609	Missense_Mutation	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08	69504625	113126609	136124012	6	74603											
HAPLN2	60484	broad.mit.edu	37	chr1	156594403	156594403	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcccgccagcttggaccgaGggtctggactggtgtaacgc	14	13	1	0			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr1:156594403G>T	uc001fpn.1	+	6	974	c.567G>T	c.(565-567)GAG>GAT	p.E189D		NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN	brain link protein-1 precursor	189	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTGGACCGAGGGTCTGGACT	0.726													T	156594403	G	T	156594403	3	4	115	1	0	0	0	0	1	0	0	0	6955	991	35	5	581	5	HAPLN2	1	156594403	Missense_Mutation	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08	43467794	156594403	92656218	7	74604											
AFF3	3899	broad.mit.edu	37	chr2	100623465	100623465	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atctccaagcaaggtcctgaGagagccctgttgtgctgagt	12	10	1	3			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr2:100623465G>A	uc002tag.2	-	6	738	c.502C>T	c.(502-504)CTC>TTC	p.L168F	AFF3_uc002taf.2_Missense_Mutation_p.L193F|AFF3_uc010fiq.1_Missense_Mutation_p.L168F|AFF3_uc010yvr.1_Missense_Mutation_p.L322F|AFF3_uc002tah.1_Missense_Mutation_p.L193F|AFF3_uc010fir.1_Missense_Mutation_p.L245F|AFF3_uc002tai.2_Missense_Mutation_p.L90F	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	168					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						AAGGTCCTGAGAGAGCCCTGT	0.522													A	100623465	G	A	100623465	3	1	115	1	0	0	0	0	1	0	0	0	358	942	33	4	3254	4	AFF3	2	100623465	Missense_Mutation	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08		100623465	142575908	8	74605											
CNTNAP5	129684	broad.mit.edu	37	chr2	125671839	125671839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttgcaaaacacagtgagcGagtgtaaacgggaatatttc	10	7	0	1			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr2:125671839G>A	uc002tno.2	+	24	4259	c.3895G>A	c.(3895-3897)GAG>AAG	p.E1299K	CNTNAP5_uc010flu.2_Missense_Mutation_p.E1300K	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	1299	Cytoplasmic (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CACAGTGAGCGAGTGTAAACG	0.413													A	125671839	G	A	125671839	3	1	115	1	0	0	0	0	1	0	0	0	3650	1059	37	1	3989	1	CNTNAP5	2	125671839	Missense_Mutation	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08	25048374	125671839	117527534	9	74606											
CACNB4	785	broad.mit.edu	37	chr2	152737347	152737347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaagtctttagcatcaaaGgagatagctgtgcttggaac	11	6	2	2			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr2:152737347G>A	uc002tya.2	-	4	425	c.357C>T	c.(355-357)TCC>TCT	p.S119S	CACNB4_uc002txy.2_Silent_p.S85S|CACNB4_uc002txz.2_Silent_p.S101S|CACNB4_uc010fnz.2_Silent_p.S119S|CACNB4_uc002tyb.2_Silent_p.S85S	NM_000726	NP_000717	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4	119	SH3.				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	TAGCATCAAAGGAGATAGCTG	0.478													A	152737347	G	A	152737347	2	1	115	1	0	0	0	0	0	0	0	1	2555	987	35	4		4	CACNB4	2	152737347	Silent	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08	27065508	152737347	90462026	10	74607											
C2orf67	151050	broad.mit.edu	37	chr2	211018370	211018370	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgcagctgtacaccgtgcaaAgccattttttgcatcatccc	7	14	1	0			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr2:211018370A>T	uc002vds.2	-	2	1145	c.937T>A	c.(937-939)TTT>ATT	p.F313I	C2orf67_uc002vdt.2_Missense_Mutation_p.F313I|C2orf67_uc002vdw.2_Missense_Mutation_p.F313I|C2orf67_uc002vdy.1_Missense_Mutation_p.F313I|C2orf67_uc002vdv.2_Missense_Mutation_p.F313I|C2orf67_uc002vdx.1_Missense_Mutation_p.F313I	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	313										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)		CACCGTGCAAAGCCATTTTTT	0.403													T	211018370	A	T	211018370	3	4	115	1	0	0	0	0	1	0	0	0	2186	72	3	5	2082	5	C2orf67	2	211018370	Missense_Mutation	SNP	A	TCGA-BR-A4CR-01A-11D-A24D-08	58281023	211018370	32181003	11	74608											
SCN10A	6336	broad.mit.edu	37	chr3	38768533	38768533	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaatagcagggcgatgaacAggttaagcacctgaagagaa	12	7	1	3			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr3:38768533A>C	uc003ciq.2	-	16	2651	c.2651T>G	c.(2650-2652)CTG>CGG	p.L884R		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	884	II.|Helical; Name=S6 of repeat II; (Potential).				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGCGATGAACAGGTTAAGCAC	0.552													C	38768533	A	C	38768533	3	2	115	1	0	0	0	0	1	0	0	0	13912	188	7	5	3267	5	SCN10A	3	38768533	Missense_Mutation	SNP	A	TCGA-BR-A4CR-01A-11D-A24D-08		38768533	159253897	12	74609											
IL17RB	55540	broad.mit.edu	37	chr3	53880617	53880617	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgcagtggcccggcgaTgtcgctcgtgctgctaagcc	14	16	0	0			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr3:53880617T>C	uc003dha.2	+	1	41	c.2T>C	c.(1-3)ATG>ACG	p.M1T	CHDH_uc003dgz.2_5'Flank	NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	interleukin 17B receptor precursor	1					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		GGCCCGGCGATGTCGCTCGTG	0.627													C	53880617	T	C	53880617	3	2	115	1	0	0	0	0	1	0	0	0	7640	1464	51	3	4	3	IL17RB	3	53880617	Missense_Mutation	SNP	T	TCGA-BR-A4CR-01A-11D-A24D-08	15112084	53880617	144141813	13	74610											
SPSB4	92369	broad.mit.edu	37	chr3	140785640	140785640	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctacatcaacggccttgacCgtaagttgtgctgggctggg	14	10	1	1			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr3:140785640C>A	uc003ett.2	+	2	948	c.694C>A	c.(694-696)CCC>ACC	p.P232T	SPSB4_uc010hum.2_Missense_Mutation_p.H232N	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box	232	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding				0						CGGCCTTGACCGTAAGTTGTG	0.632													A	140785640	C	A	140785640	3	1	115	1	0	0	0	0	1	0	0	0	15114	666	23	5	696	5	SPSB4	3	140785640	Missense_Mutation	SNP	C	TCGA-BR-A4CR-01A-11D-A24D-08	86905023	140785640	57236790	14	74611											
ANKRD50	57182	broad.mit.edu	37	chr4	125593582	125593582	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcagtttcttttgtgaGgtgttgtcgcaaagcttctt	10	8	3	1			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr4:125593582G>T	uc003ifg.3	-	3	1116	c.850C>A	c.(850-852)CTC>ATC	p.L284I	ANKRD50_uc011cgo.1_Missense_Mutation_p.L105I|ANKRD50_uc010inw.2_Missense_Mutation_p.L284I	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	284										central_nervous_system(1)	1						TCTTTTGTGAGGTGTTGTCGC	0.363													T	125593582	G	T	125593582	3	4	115	1	0	0	0	0	1	0	0	0	677	1000	35	5	3443	5	ANKRD50	4	125593582	Missense_Mutation	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08		125593582	65560694	15	74612											
CDH12	1010	broad.mit.edu	37	chr5	21755828	21755828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatctacagactcgaataGtcattgtgtttgtgctgctc	8	10	2	1			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr5:21755828G>A	uc010iuc.2	-	11	2215	c.1757C>T	c.(1756-1758)ACT>ATT	p.T586I	CDH12_uc011cno.1_Missense_Mutation_p.T546I|CDH12_uc003jgk.2_Missense_Mutation_p.T586I|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	586	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						GACTCGAATAGTCATTGTGTT	0.468										HNSCC(59;0.17)			A	21755828	G	A	21755828	3	1	115	1	0	0	0	0	1	0	0	0	3098	1029	36	4	635	4	CDH12	5	21755828	Missense_Mutation	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08		21755828	159159432	16	74613											
NPR3	4883	broad.mit.edu	37	chr5	32712408	32712408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtactcgcacctcacgCgcgtggcgcccgcctacgcc	11	19	1	1			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr5:32712408C>T	uc003jhv.2	+	1	744	c.526C>T	c.(526-528)CGC>TGC	p.R176C	NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.R176C	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	176	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	GCACCTCACGCGCGTGGCGCC	0.672													T	32712408	C	T	32712408	3	4	115	1	0	0	0	0	1	0	0	0	10596	768	27	1	528	1	NPR3	5	32712408	Missense_Mutation	SNP	C	TCGA-BR-A4CR-01A-11D-A24D-08	10956580	32712408	148202852	17	74614											
DAB2	1601	broad.mit.edu	37	chr5	39377141	39377141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggcttgttgttgaccaaGcattgggtgccacagatgca	13	8	0	2			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr5:39377141G>A	uc003jlx.2	-	12	2279	c.1748C>T	c.(1747-1749)GCT>GTT	p.A583V	DAB2_uc003jlw.2_Missense_Mutation_p.A562V	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	583					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			TGTTGACCAAGCATTGGGTGC	0.552											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	39377141	G	A	39377141	3	1	115	1	0	0	0	0	1	0	0	0	4218	971	34	2	576	2	DAB2	5	39377141	Missense_Mutation	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08	6664733	39377141	141538119	18	74615											
HCN1	348980	broad.mit.edu	37	chr5	45695964	45695964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtcttcgaagccccccgCcggctcctcgccgccgccgc	12	22	1	0			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr5:45695964C>T	uc003jok.2	-	1	257	c.232G>A	c.(232-234)GCG>ACG	p.A78T		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	78	Cytoplasmic (Potential).|Gly-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						AAGCCCCCCGCCGGCTCCTcg	0.443													T	45695964	C	T	45695964	3	4	115	1	0	0	0	0	1	0	0	0	6996	739	26	2	2472	2	HCN1	5	45695964	Missense_Mutation	SNP	C	TCGA-BR-A4CR-01A-11D-A24D-08	6318823	45695964	135219296	19	74616											
MAP1B	4131	broad.mit.edu	37	chr5	71489953	71489953	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcgggtggatttctgaagctCtccaagccctgctgttatat	10	10	2	1			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr5:71489953C>T	uc003kbw.3	+	5	1012	c.771C>T	c.(769-771)CTC>CTT	p.L257L	MAP1B_uc010iyw.1_Silent_p.L274L|MAP1B_uc010iyx.1_Silent_p.L131L|MAP1B_uc010iyy.1_Silent_p.L131L	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	257						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TTCTGAAGCTCTCCAAGCCCT	0.473													T	71489953	C	T	71489953	2	4	115	1	0	0	0	0	0	0	0	1	9228	900	32	4		4	MAP1B	5	71489953	Silent	SNP	C	TCGA-BR-A4CR-01A-11D-A24D-08	25793989	71489953	109425307	20	74617											
TLX3	30012	broad.mit.edu	37	chr5	170736747	170736747	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttggcggtctcaatttcccCtggatggagagcagccgccg	13	13	1	1			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr5:170736747C>A	uc003mbf.2	+	1	460	c.378C>A	c.(376-378)CCC>CCA	p.P126P	uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	126						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCAATTTCCCCTGGATGGAGA	0.706			T	BCL11B	T-ALL								A	170736747	C	A	170736747	2	1	115	1	0	0	0	0	0	0	0	1	15959	668	24	5		5	TLX3	5	170736747	Silent	SNP	C	TCGA-BR-A4CR-01A-11D-A24D-08	99246794	170736747	10178513	21	74618											
FAM50B	26240	broad.mit.edu	37	chr6	3850236	3850236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgagctgaagtccagcaCggtgggcctggtgaccctga	16	12	0	3			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr6:3850236C>T	uc003mvu.2	+	2	303	c.191C>T	c.(190-192)ACG>ATG	p.T64M		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	64						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				AAGTCCAGCACGGTGGGCCTG	0.652													T	3850236	C	T	3850236	3	4	115	1	0	0	0	0	1	0	0	0	5578	536	19	1	193	1	FAM50B	6	3850236	Missense_Mutation	SNP	C	TCGA-BR-A4CR-01A-11D-A24D-08		3850236	167264831	22	74619											
HIST1H4F	8361	broad.mit.edu	37	chr6	26240797	26240797	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcggcgtgaaacgcatttcGggcctcatttatgaggagac	14	9	1	3			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr6:26240797G>T	uc003nhe.1	+	1	144	c.144G>T	c.(142-144)TCG>TCT	p.S48S		NM_003540	NP_003531	P62805	H4_HUMAN	histone cluster 1, H4f	48					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				AACGCATTTCGGGCCTCATTT	0.597													T	26240797	G	T	26240797	2	4	115	1	0	0	0	0	0	0	0	1	7170	1103	39	5		5	HIST1H4F	6	26240797	Silent	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08	22390561	26240797	144874270	23	74620											
SCAND3	114821	broad.mit.edu	37	chr6	28539899	28539899	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcagcaagctcaggatagTcatttttagcttttatccaa	6	9	3	0			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr6:28539899T>C	uc003nlo.2	-	4	4385	c.3767A>G	c.(3766-3768)GAC>GGC	p.D1256G		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1256					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						ctcaggatagtcatttttagc	0													C	28539899	T	C	28539899	3	2	115	1	0	0	0	0	1	0	0	0	13876	1667	58	3	214	3	SCAND3	6	28539899	Missense_Mutation	SNP	T	TCGA-BR-A4CR-01A-11D-A24D-08	2299102	28539899	142575168	24	74621											
SKIV2L	6499	broad.mit.edu	37	chr6	31933769	31933769	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgagtgcccgagatggcAgacctgcaccgcatgatgat	14	12	0	4			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr6:31933769A>G	uc003nyn.1	+	18	2570	c.2181A>G	c.(2179-2181)GCA>GCG	p.A727A	SKIV2L_uc011dou.1_Silent_p.A569A|SKIV2L_uc011dov.1_Silent_p.A534A	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	727	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						CCGAGATGGCAGACCTGCACC	0.627													G	31933769	A	G	31933769	2	3	115	1	0	0	0	0	0	0	0	1	14359	175	7	3		3	SKIV2L	6	31933769	Silent	SNP	A	TCGA-BR-A4CR-01A-11D-A24D-08	3393870	31933769	139181298	25	74622											
STK19	8859	broad.mit.edu	37	chr6	31939830	31939831	+	Frame_Shift_Ins	INS	-	-	A													ttcagcgacagtggcgggcaINSaacccctcccggggcggggg							TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr6:31939829_31939830C>CA	uc003nyv.3	+	0	184_185	c.56_57C>CA	c.(55-57)gcafs	p.A19fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.A19fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.A19fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													A	31939831	-	A	31939830	7	5	115	1	0	1	1	0	0	0	0	0	15291	117	5	0	59	0	STK19	6	31939830	Frame_Shift_Ins	INS	-	TCGA-BR-A4CR-01A-11D-A24D-08	6061	31939830	139175237	26	74623											
HMGCLL1	54511	broad.mit.edu	37	chr6	55381357	55381357	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggacaggatagcgaactccTggatattgatgaatgccttt	11	7	0	2			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr6:55381357T>C	uc003pcn.2	-	5	591	c.432A>G	c.(430-432)CCA>CCG	p.P144P	HMGCLL1_uc003pco.2_Silent_p.P114P|HMGCLL1_uc010jzx.2_Silent_p.P15P|HMGCLL1_uc011dxc.1_Intron|HMGCLL1_uc011dxd.1_Intron|HMGCLL1_uc011dxe.1_Intron|HMGCLL1_uc003pcp.2_Intron	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	144							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGCGAACTCCTGGATATTGAT	0.353													C	55381357	T	C	55381357	2	2	115	1	0	0	0	0	0	0	0	1	7230	1567	55	3		3	HMGCLL1	6	55381357	Silent	SNP	T	TCGA-BR-A4CR-01A-11D-A24D-08	23441527	55381357	115733710	27	74624											
RIMS1	22999	broad.mit.edu	37	chr6	72984124	72984124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatccagcatgcgtctccGgagaatgacaggtactagtc	10	11	1	2			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr6:72984124G>A	uc003pga.2	+	23	3548	c.3471G>A	c.(3469-3471)CCG>CCA	p.P1157P	RIMS1_uc011dyb.1_Intron|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Intron|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgf.2_Intron|RIMS1_uc003pgg.2_Silent_p.P310P|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Intron|RIMS1_uc003pge.2_Intron|RIMS1_uc011dye.1_Intron|RIMS1_uc011dyf.1_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1157					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.P1157P(1)		ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATGCGTCTCCGGAGAATGACA	0.488													A	72984124	G	A	72984124	2	1	115	1	0	0	0	0	0	0	0	1	13367	1103	39	1		1	RIMS1	6	72984124	Silent	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08	17602767	72984124	98130943	28	74625											
GJA10	84694	broad.mit.edu	37	chr6	90604457	90604457	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgtgtcttctccttctttGgtctatatgggccatgcact	8	10	4	0			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr6:90604457G>T	uc011eaa.1	+	1	270	c.270G>T	c.(268-270)TTG>TTT	p.L90F		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10	90	Helical; (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CTCCTTCTTTGGTCTATATGG	0.448													T	90604457	G	T	90604457	3	4	115	1	0	0	0	0	1	0	0	0	6401	1339	47	5	272	5	GJA10	6	90604457	Missense_Mutation	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08	17620333	90604457	80510610	29	74626											
C6orf97	80129	broad.mit.edu	37	chr6	151936585	151936585	+	Frame_Shift_Del	DEL	C	C	-													cttgactttctagattaaaaCtttggaacagactaaagcca							TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr6:151936585delC	uc003qol.2	+	10	1807	c.1718delC	c.(1717-1719)ACTfs	p.T573fs		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	573	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		TAGATTAAAACTTTGGAACAG	0.353													-	151936585	C	-	151936585	7	5	115	1	0	1	0	1	0	0	0	0	2374	565	20	0	1756	0	C6orf97	6	151936585	Frame_Shift_Del	DEL	C	TCGA-BR-A4CR-01A-11D-A24D-08	61332128	151936585	19178482	30	74627											
IKZF1	10320	broad.mit.edu	37	chr7	50450356	50450356	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgccacctctgcaactaCgcctgccgccggagggacgc	11	16	1	0			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr7:50450356C>T	uc003tow.3	+	6	708	c.540C>T	c.(538-540)TAC>TAT	p.Y180Y	IKZF1_uc003tox.3_Silent_p.Y180Y|IKZF1_uc003toy.3_Silent_p.Y180Y|IKZF1_uc011kck.1_Silent_p.Y93Y|IKZF1_uc003toz.3_Silent_p.Y150Y|IKZF1_uc010kyx.2_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	180	C2H2-type 3.|Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(74)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCTGCAACTACGCCTGCCGCC	0.647			D		ALL								T	50450356	C	T	50450356	2	4	115	1	0	0	0	0	0	0	0	1	7614	547	19	1		1	IKZF1	7	50450356	Silent	SNP	C	TCGA-BR-A4CR-01A-11D-A24D-08		50450356	108688307	31	74628											
GRM8	2918	broad.mit.edu	37	chr7	126173853	126173853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaagggacccctttcaccGttttcttcctctcccctggc	7	17	3	0			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr7:126173853G>A	uc003vlr.2	-	8	1894	c.1583C>T	c.(1582-1584)ACG>ATG	p.T528M	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.T528M|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	528	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCCTTTCACCGTTTTCTTCCT	0.542										HNSCC(24;0.065)			A	126173853	G	A	126173853	3	1	115	1	0	0	0	0	1	0	0	0	6803	1145	40	1	1205	1	GRM8	7	126173853	Missense_Mutation	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08	75723497	126173853	32964810	32	74629											
ATG9B	285973	broad.mit.edu	37	chr7	150714339	150714339	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctgagacagcgaggcctcAgtctgtcccgccgagagcca	13	15	2	2			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr7:150714339A>G	uc011kvc.1	-	9	2149	c.2073T>C	c.(2071-2073)ACT>ACC	p.T691T	ATG9B_uc003wig.3_RNA	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	ATG9 autophagy related 9 homolog B	691	Cytoplasmic (By similarity).				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				ovary(1)	1	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGAGGCCTCAGTCTGTCCCG	0.602													G	150714339	A	G	150714339	2	3	115	1	0	0	0	0	0	0	0	1	1103	175	7	3		3	ATG9B	7	150714339	Silent	SNP	A	TCGA-BR-A4CR-01A-11D-A24D-08	24540486	150714339	8424324	33	74630											
DPP6	1804	broad.mit.edu	37	chr7	154237681	154237681	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggaatgttgaaacaaatacTtctactgtcttaatagaagg	8	5	2	2			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr7:154237681T>A	uc003wlk.2	+	4	651	c.522T>A	c.(520-522)ACT>ACA	p.T174T	DPP6_uc003wli.2_Silent_p.T110T|DPP6_uc003wlj.2_Silent_p.T174T|DPP6_uc003wlm.2_Silent_p.T112T|DPP6_uc011kvq.1_Silent_p.T112T	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	174	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AAACAAATACTTCTACTGTCT	0.333													A	154237681	T	A	154237681	2	1	115	1	0	0	0	0	0	0	0	1	4730	1596	56	5		5	DPP6	7	154237681	Silent	SNP	T	TCGA-BR-A4CR-01A-11D-A24D-08	3523342	154237681	4900982	34	74631											
PRKDC	5591	broad.mit.edu	37	chr8	48772214	48772214	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtctagggtcttgggaGctgtatgaatagctctgaac	14	7	3	2			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr8:48772214G>A	uc003xqi.2	-	47	6222	c.6165C>T	c.(6163-6165)AGC>AGT	p.S2055S	PRKDC_uc003xqj.2_Silent_p.S2055S|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2055					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGTCTTGGGAGCTGTATGAAT	0.443								NHEJ					A	48772214	G	A	48772214	2	1	115	1	0	0	0	0	0	0	0	1	12521	962	34	2		2	PRKDC	8	48772214	Silent	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08		48772214	97591808	35	74632											
TNC	3371	broad.mit.edu	37	chr9	117845084	117845084	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggccttcaggtgcaggtaAgtctgtaagtaacaacataa	10	8	2	0			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr9:117845084A>G	uc004bjj.3	-	5	2496	c.2134T>C	c.(2134-2136)TTA>CTA	p.L712L	TNC_uc010mvf.2_Silent_p.L712L	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	712					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						GGTGCAGGTAAGTCTGTAAGT	0.468													G	117845084	A	G	117845084	2	3	115	1	0	0	0	0	0	0	0	1	16267	69	3	3		3	TNC	9	117845084	Silent	SNP	A	TCGA-BR-A4CR-01A-11D-A24D-08		117845084	23368347	36	74633											
FAM73B	84895	broad.mit.edu	37	chr9	131830597	131830597	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccgctggctgtcagacAgcttcaaggagacggtgggt	16	9	2	2			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr9:131830597A>T	uc004bxa.2	+	13	1576	c.1390A>T	c.(1390-1392)AGC>TGC	p.S464C	FAM73B_uc004bwy.2_RNA|FAM73B_uc004bwz.2_RNA|FAM73B_uc011mbn.1_Missense_Mutation_p.S464C|FAM73B_uc004bxb.2_5'Flank	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	hypothetical protein LOC84895	464						integral to membrane				skin(1)	1						GCTGTCAGACAGCTTCAAGGA	0.632													T	131830597	A	T	131830597	3	4	115	1	0	0	0	0	1	0	0	0	5618	188	7	5	1436	5	FAM73B	9	131830597	Missense_Mutation	SNP	A	TCGA-BR-A4CR-01A-11D-A24D-08	13985513	131830597	9382834	37	74634											
LAMC3	10319	broad.mit.edu	37	chr9	133914363	133914363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccacacagctgggccacaCtgtgagcgctgtcaggagaa	13	12	1	2			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr9:133914363C>T	uc004caa.1	+	5	1187	c.1089C>T	c.(1087-1089)CAC>CAT	p.H363H		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	363	Laminin EGF-like 2.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTGGGCCACACTGTGAGCGCT	0.642													T	133914363	C	T	133914363	2	4	115	1	0	0	0	0	0	0	0	1	8616	564	20	4		4	LAMC3	9	133914363	Silent	SNP	C	TCGA-BR-A4CR-01A-11D-A24D-08	2083766	133914363	7299068	38	74635											
BAT2L1	84726	broad.mit.edu	37	chr9	134322501	134322501	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgaagtcatcagaaaaccaGggtacagtggaacgaggctc	12	10	2	1			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr9:134322501G>C	uc004can.3	+	7	940	c.885G>C	c.(883-885)CAG>CAC	p.Q295H	BAT2L1_uc010mzj.1_5'Flank|BAT2L1_uc004cam.1_Missense_Mutation_p.Q295H	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	295							protein binding				0						CAGAAAACCAGGGTACAGTGG	0.458													C	134322501	G	C	134322501	3	2	115	1	0	0	0	0	1	0	0	0	1320	991	35	5	911	5	BAT2L1	9	134322501	Missense_Mutation	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08	408138	134322501	6890930	39	74636											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077306	19077306	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagcctggtcagtggcagaCccctggagccacagaggatc	13	13	1	2			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr11:19077306C>A	uc001mph.2	-	2	732	c.644G>T	c.(643-645)GGT>GTT	p.G215V		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	215	Cytoplasmic (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						CAGTGGCAGACCCCTGGAGCC	0.532													A	19077306	C	A	19077306	3	1	115	1	0	0	0	0	1	0	0	0	9767	507	18	5	352	5	MRGPRX2	11	19077306	Missense_Mutation	SNP	C	TCGA-BR-A4CR-01A-11D-A24D-08		19077306	115929210	40	74637											
DAGLA	747	broad.mit.edu	37	chr11	61504739	61504739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctctccttccttctgcGcccacagtatccgaccctca	4	20	3	0			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr11:61504739G>A	uc001nsa.2	+	14	1568	c.1457G>A	c.(1456-1458)CGC>CAC	p.R486H		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	486	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		TTCCTTCTGCGCCCACAGTAT	0.647													A	61504739	G	A	61504739	3	1	115	1	0	0	0	0	1	0	0	0	4226	1087	38	1	1507	1	DAGLA	11	61504739	Missense_Mutation	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08	42427433	61504739	73501777	41	74638											
SIPA1	6494	broad.mit.edu	37	chr11	65413832	65413832	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcacacacaccctgcacGccacacaccacctacaggtg	8	19	0	0			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr11:65413832G>A	uc001ofb.2	+	7	1571	c.1404G>A	c.(1402-1404)ACG>ACA	p.T468T	SIPA1_uc010rom.1_Silent_p.T468T|SIPA1_uc001ofd.2_Silent_p.T468T	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	468	Rap-GAP.			T -> R (in Ref. 2; AAC32559).	cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity				0						CACCCTGCACGCCACACACCA	0.672													A	65413832	G	A	65413832	2	1	115	1	0	0	0	0	0	0	0	1	14328	1074	38	1		1	SIPA1	11	65413832	Silent	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08	3909093	65413832	69592684	42	74639											
CXCR5	643	broad.mit.edu	37	chr11	118765361	118765361	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagagaatgccacctctctcAccacgttctaggtcccagtg	8	15	3	1			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr11:118765361A>T	uc001pue.3	+	2	1218	c.1108A>T	c.(1108-1110)ACC>TCC	p.T370S	CXCR5_uc001puf.2_Missense_Mutation_p.T325S	NM_001716	NP_001707	P32302	CXCR5_HUMAN	Burkitt lymphoma receptor 1 isoform 1	370	Cytoplasmic (Potential).				B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CACCTCTCTCACCACGTTCTA	0.592													T	118765361	A	T	118765361	3	4	115	1	0	0	0	0	1	0	0	0	4094	159	6	5	1114	5	CXCR5	11	118765361	Missense_Mutation	SNP	A	TCGA-BR-A4CR-01A-11D-A24D-08	53351529	118765361	16241155	43	74640											
KLRG1	10219	broad.mit.edu	37	chr12	9162024	9162024	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgatttcttacaggaTttcttctaatagctttgtgc	6	7	4	1			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr12:9162024T>A	uc001qvh.2	+	5	472	c.461T>A	c.(460-462)ATT>AAT	p.I154N	KLRG1_uc001qvg.2_Missense_Mutation_p.I154N	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G,	154	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			central_nervous_system(1)	1						TCTTACAGGATTTCTTCTAAT	0.418													A	9162024	T	A	9162024	3	1	115	1	0	0	0	0	1	0	0	0	8421	1493	52	5	479	5	KLRG1	12	9162024	Missense_Mutation	SNP	T	TCGA-BR-A4CR-01A-11D-A24D-08		9162024	124689871	44	74641											
HELB	92797	broad.mit.edu	37	chr12	66698721	66698721	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgctctctttcttaaagAgtgtgaggtctccagtgatg	11	8	3	3			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr12:66698721A>T	uc001sti.2	+	2	426	c.398A>T	c.(397-399)GAG>GTG	p.E133V	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	133					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TTTCTTAAAGAGTGTGAGGTC	0.343													T	66698721	A	T	66698721	3	4	115	1	0	0	0	0	1	0	0	0	7045	304	11	5	404	5	HELB	12	66698721	Missense_Mutation	SNP	A	TCGA-BR-A4CR-01A-11D-A24D-08	57536697	66698721	67153174	45	74642											
C12orf12	196477	broad.mit.edu	37	chr12	91347821	91347821	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgccagggggcgcgtcGtttccggaggatctggctgg	18	12	1	0			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr12:91347821G>A	uc001tbj.2	-	1	1133	c.699C>T	c.(697-699)AAC>AAT	p.N233N		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	233										central_nervous_system(1)|pancreas(1)	2						GGGGCGCGTCGTTTCCGGAGG	0.637													A	91347821	G	A	91347821	2	1	115	1	0	0	0	0	0	0	0	1	1676	1136	40	1		1	C12orf12	12	91347821	Silent	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08	24649100	91347821	42504074	46	74643											
ULK1	8408	broad.mit.edu	37	chr12	132403762	132403762	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccgcttcctgcagcaagaGcacacggagatcctgcgtgg	14	13	0	2			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr12:132403762G>C	uc001uje.2	+	24	2785	c.2517G>C	c.(2515-2517)GAG>GAC	p.E839D		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	839					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TGCAGCAAGAGCACACGGAGA	0.677													C	132403762	G	C	132403762	3	2	115	1	0	0	0	0	1	0	0	0	16972	962	34	5	2611	5	ULK1	12	132403762	Missense_Mutation	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08	41055941	132403762	1448133	47	74644											
RB1	5925	broad.mit.edu	37	chr13	48941648	48941648	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttgaaaatctttctaaaCgatacgaagaaatttatctt	6	5	3	2	rs121913300		TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr13:48941648C>T	uc001vcb.2	+	10	1124	c.958C>T	c.(958-960)CGA>TGA	p.R320*	RB1_uc010act.1_Nonsense_Mutation_p.R21*	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	320					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.R320*(9)|p.?(6)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTTCTAAACGATACGAAGA	0.313	R320*(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)|R320*(GMS10_CENTRAL_NERVOUS_SYSTEM)	6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	48941648	C	T	48941648	4	4	115	1	0	0	0	0	0	1	0	0	13098	528	19	1	996	1	RB1	13	48941648	Nonsense_Mutation	SNP	C	TCGA-BR-A4CR-01A-11D-A24D-08		48941648	66228230	48	74645											
MYO16	23026	broad.mit.edu	37	chr13	109518544	109518544	+	Frame_Shift_Del	DEL	T	T	-													gacattcattggagacattcTtttgcttgttaacccataca							TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr13:109518543_109518543CT>C	uc010agk.2	+	11	2000	c.1378_1378CT>C	c.(1378-1380)cttfs	p.L460fs	MYO16_uc001vqt.1_Frame_Shift_Del_p.L438fs|MYO16_uc001vqu.1_Frame_Shift_Del_p.L238fs	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	438	Myosin head-like 1.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGGAGACATTCTTTTGCTTGT	0.294													-	109518544	T	-	109518544	7	5	115	1	0	1	0	1	0	0	0	0	10064	1609	56	0	1355	0	MYO16	13	109518544	Frame_Shift_Del	DEL	T	TCGA-BR-A4CR-01A-11D-A24D-08	60576896	109518544	5651334	49	74646											
OR4N2	390429	broad.mit.edu	37	chr14	20295880	20295880	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcctctctgcgaagaagatAatctcctacagaggctgcat	8	11	2	3			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr14:20295880A>T	uc010tkv.1	+	1	273	c.273A>T	c.(271-273)ATA>ATT	p.I91I		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CGAAGAAGATAATCTCCTACA	0.512													T	20295880	A	T	20295880	2	4	115	1	0	0	0	0	0	0	0	1	11077	352	13	5		5	OR4N2	14	20295880	Silent	SNP	A	TCGA-BR-A4CR-01A-11D-A24D-08		20295880	87053660	50	74647											
OR4K2	390431	broad.mit.edu	37	chr14	20344654	20344654	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gatatgtctcttgcttctttCgccaccccaaagatgattac	6	12	2	2			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr14:20344654C>A	uc001vwh.1	+	1	228	c.228C>A	c.(226-228)TTC>TTA	p.F76L		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K,	76	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGCTTCTTTCGCCACCCCAA	0.418													A	20344654	C	A	20344654	3	1	115	1	0	0	0	0	1	0	0	0	11072	883	31	5	230	5	OR4K2	14	20344654	Missense_Mutation	SNP	C	TCGA-BR-A4CR-01A-11D-A24D-08	48774	20344654	87004886	51	74648											
OR4K1	79544	broad.mit.edu	37	chr14	20404344	20404344	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattctgtggtcccaatgaGgtggatagcttcttttgtga	11	8	2	2	rs150151690	by1000genomes	TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr14:20404344G>A	uc001vwj.1	+	1	519	c.519G>A	c.(517-519)GAG>GAA	p.E173E		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	173	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTCCCAATGAGGTGGATAGCT	0.458													A	20404344	G	A	20404344	2	1	115	1	0	0	0	0	0	0	0	1	11067	991	35	4		4	OR4K1	14	20404344	Silent	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08	59690	20404344	86945196	52	74649											
PRKD1	5587	broad.mit.edu	37	chr14	30103740	30103740	+	Frame_Shift_Del	DEL	T	T	-													gagtgggatattgttgcttgTtgatggacttgagaagtcaa							TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr14:30103740delT	uc001wqh.2	-	8	1379	c.1198delA	c.(1198-1200)ACAfs	p.T400fs		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	400					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TTGTTGCTTGTTGATGGACTT	0.388													-	30103740	T	-	30103740	7	5	115	1	0	1	0	1	0	0	0	0	12518	1725	60	0	1584	0	PRKD1	14	30103740	Frame_Shift_Del	DEL	T	TCGA-BR-A4CR-01A-11D-A24D-08	9699396	30103740	77245800	53	74650											
PSMA3	5684	broad.mit.edu	37	chr14	58724709	58724709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtgctgttagaccttttGgctgcaggtaagaaattttg	11	6	0	2			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr14:58724709G>A	uc001xdj.1	+	5	443	c.397G>A	c.(397-399)GGC>AGC	p.G133S	C14orf37_uc010tro.1_Intron|PSMA3_uc001xdk.1_Missense_Mutation_p.G133S	NM_002788	NP_002779	P25788	PSA3_HUMAN	proteasome alpha 3 subunit isoform 1	133					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity				0						TAGACCTTTTGGCTGCAGGTA	0.368													A	58724709	G	A	58724709	3	1	115	1	0	0	0	0	1	0	0	0	12668	1348	47	4	415	4	PSMA3	14	58724709	Missense_Mutation	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08	28620969	58724709	48624831	54	74651											
CYP11A1	1583	broad.mit.edu	37	chr15	74637521	74637521	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggggcaaaaagttcttggtGgcctctggagccatcacctc	12	11	3	0			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr15:74637521G>T	uc002axt.2	-	3	644	c.489C>A	c.(487-489)GCC>GCA	p.A163A	CYP11A1_uc002axs.2_Silent_p.A5A|CYP11A1_uc010bjm.1_Silent_p.A5A|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Silent_p.A163A|CYP11A1_uc010bjp.1_5'Flank|CYP11A1_uc010ulj.1_Intron|CYP11A1_uc010bjq.2_Silent_p.A163A	NM_000781	NP_000772	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A,	163					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			ovary(2)	2					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	AGTTCTTGGTGGCCTCTGGAG	0.587													T	74637521	G	T	74637521	2	4	115	1	0	0	0	0	0	0	0	1	4144	1335	47	5		5	CYP11A1	15	74637521	Silent	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08		74637521	27893871	55	74652											
KIAA0664	23277	broad.mit.edu	37	chr17	2597254	2597254	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggcgcaggcaggcgcaggtCtccacgtgcatggctccgta	15	13	1	0			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr17:2597254C>A	uc002fuy.1	-	19	3140	c.3054G>T	c.(3052-3054)GAG>GAT	p.E1018D	KIAA0664_uc002fux.1_Missense_Mutation_p.E951D|KIAA0664_uc010ckc.1_Missense_Mutation_p.E4D	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	1018							binding			breast(2)	2						AGGCGCAGGTCTCCACGTGCA	0.632													A	2597254	C	A	2597254	3	1	115	1	0	0	0	0	1	0	0	0	8189	912	32	5	907	5	KIAA0664	17	2597254	Missense_Mutation	SNP	C	TCGA-BR-A4CR-01A-11D-A24D-08		2597254	78597956	56	74653											
TP53	7157	broad.mit.edu	37	chr17	7577082	7577082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcttgcggagattctcttCctctgtgcgccggtctctcc	9	14	4	1			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr17:7577082C>T	uc002gim.2	-	8	1050	c.856G>A	c.(856-858)GAA>AAA	p.E286K	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E286K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E154K|TP53_uc010cng.1_Missense_Mutation_p.E154K|TP53_uc002gii.1_Missense_Mutation_p.E154K|TP53_uc010cnh.1_Missense_Mutation_p.E286K|TP53_uc010cni.1_Missense_Mutation_p.E286K|TP53_uc002gij.2_Missense_Mutation_p.E286K	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	286	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> V (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> G (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286K(52)|p.E286*(14)|p.E286G(14)|p.0?(7)|p.E286V(6)|p.E286Q(5)|p.?(2)|p.E286D(2)|p.E286E(2)|p.R283fs*16(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.E286A(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.E285_L289delEEENL(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGATTCTCTTCCTCTGTGCGC	0.557		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577082	C	T	7577082	3	4	115	1	0	0	0	0	1	0	0	0	16378	864	30	4	430	4	TP53	17	7577082	Missense_Mutation	SNP	C	TCGA-BR-A4CR-01A-11D-A24D-08	4979828	7577082	73618128	57	74654											
DNAH9	1770	broad.mit.edu	37	chr17	11648301	11648301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcggggacctctttcccgCcctggatgtcccccggagga	13	15	1	0			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr17:11648301C>T	uc002gne.2	+	31	6367	c.6299C>T	c.(6298-6300)GCC>GTC	p.A2100V	DNAH9_uc010coo.2_Missense_Mutation_p.A1394V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2100					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCTTTCCCGCCCTGGATGTC	0.557													T	11648301	C	T	11648301	3	4	115	1	0	0	0	0	1	0	0	0	4608	739	26	2	6421	2	DNAH9	17	11648301	Missense_Mutation	SNP	C	TCGA-BR-A4CR-01A-11D-A24D-08	4071219	11648301	69546909	58	74655											
RNF112	7732	broad.mit.edu	37	chr17	19314763	19314763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacttccttttgtcatcgGcttggcaaacgggcaagtct	10	11	3	0			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr17:19314763G>A	uc010vyw.1	+	1	241	c.42G>A	c.(40-42)CGG>CGA	p.R14R	RNF112_uc010vyu.1_Silent_p.R14R|RNF112_uc010vyv.1_Silent_p.R14R|RNF112_uc010vyx.1_5'Flank	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	14							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2						TTTGTCATCGGCTTGGCAAAC	0.642													A	19314763	G	A	19314763	2	1	115	1	0	0	0	0	0	0	0	1	13426	1190	42	2		2	RNF112	17	19314763	Silent	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08	7666462	19314763	61880447	59	74656											
SLC6A4	6532	broad.mit.edu	37	chr17	28538390	28538390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatggcaaagaaagtggaCgctggcatgttggctatcgc	14	7	0	2			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr17:28538390C>T	uc002hey.3	-	10	1801	c.1257G>A	c.(1255-1257)GCG>GCA	p.A419A	SLC6A4_uc010csg.2_RNA	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	419	Helical; Name=8; (Potential).				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AGAAAGTGGACGCTGGCATGT	0.532													T	28538390	C	T	28538390	2	4	115	1	0	0	0	0	0	0	0	1	14686	523	19	1		1	SLC6A4	17	28538390	Silent	SNP	C	TCGA-BR-A4CR-01A-11D-A24D-08	9223627	28538390	52656820	60	74657											
BAHCC1	57597	broad.mit.edu	37	chr17	79409752	79409752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcctgggggctttgaggcGgccctcaacccccggctaaa	14	15	1	1			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr17:79409752G>A	uc002kaf.2	+	3	1377	c.1377G>A	c.(1375-1377)GCG>GCA	p.A459A	BAHCC1_uc002kae.2_5'Flank	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BAH domain and coiled-coil containing 1	459							DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			GCTTTGAGGCGGCCCTCAACC	0.672													A	79409752	G	A	79409752	2	1	115	1	0	0	0	0	0	0	0	1	1296	1103	39	1		1	BAHCC1	17	79409752	Silent	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08	50871362	79409752	1785458	61	74658											
LAMA1	284217	broad.mit.edu	37	chr18	7026103	7026103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtggtgttgtgcgcacaCgcctaggaacatgcaccaga	13	12	0	1			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr18:7026103C>T	uc002knm.2	-	17	2371	c.2277G>A	c.(2275-2277)GCG>GCA	p.A759A	LAMA1_uc010wzj.1_Silent_p.A235A	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	759	Laminin EGF-like 6.				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)	TGTGCGCACACGCCTAGGAAC	0.532													T	7026103	C	T	7026103	2	4	115	1	0	0	0	0	0	0	0	1	8605	523	19	1		1	LAMA1	18	7026103	Silent	SNP	C	TCGA-BR-A4CR-01A-11D-A24D-08		7026103	71051145	62	74659											
SETBP1	26040	broad.mit.edu	37	chr18	42532899	42532899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcagacaaagagctcccGctggtgagtgagaagaacaa	13	9	0	5	rs139363762	by1000genomes	TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr18:42532899G>A	uc010dni.2	+	4	3890	c.3594G>A	c.(3592-3594)CCG>CCA	p.P1198P		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1198						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGAGCTCCCGCTGGTGAGTG	0.542									Schinzel-Giedion_syndrome				A	42532899	G	A	42532899	2	1	115	1	0	0	0	0	0	0	0	1	14129	1074	38	1		1	SETBP1	18	42532899	Silent	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08	35506796	42532899	35544349	63	74660											
RAB27B	5874	broad.mit.edu	37	chr18	52555243	52555243	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggccaactgcaagcaaatGcttattgtgaaaatccagat	8	8	0	2			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr18:52555243G>T	uc002lfr.2	+	5	472	c.361G>T	c.(361-363)GCT>TCT	p.A121S		NM_004163	NP_004154	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	121					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity				0				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		GCAAGCAAATGCTTATTGTGA	0.413													T	52555243	G	T	52555243	3	4	115	1	0	0	0	0	1	0	0	0	12915	1319	46	5	375	5	RAB27B	18	52555243	Missense_Mutation	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08	10022344	52555243	25522005	64	74661											
VAV1	7409	broad.mit.edu	37	chr19	6828175	6828175	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agttctcaaatatcacctccTtctccaggtgccaggcacat	6	14	3	0			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr19:6828175T>A	uc002mfu.1	+	10	1113	c.1016T>A	c.(1015-1017)CTT>CAT	p.L339H	VAV1_uc010xjh.1_Missense_Mutation_p.L307H|VAV1_uc010dva.1_Missense_Mutation_p.L339H|VAV1_uc002mfv.1_Missense_Mutation_p.L284H	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	339	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	p.L339L(1)		lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						TATCACCTCCTTCTCCAGGTG	0.572													A	6828175	T	A	6828175	3	1	115	1	0	0	0	0	1	0	0	0	17128	1609	56	5	1054	5	VAV1	19	6828175	Missense_Mutation	SNP	T	TCGA-BR-A4CR-01A-11D-A24D-08		6828175	52300808	65	74662											
PNPLA6	10908	broad.mit.edu	37	chr19	7623881	7623881	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatccctgggctgacaaggtAaaggttccagacatggctga	12	9	0	3			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr19:7623881A>G	uc010xjq.1	+	30	3768	c.3573A>G	c.(3571-3573)GTA>GTG	p.V1191V	PNPLA6_uc002mgq.1_Silent_p.V1143V|PNPLA6_uc010xjp.1_Silent_p.V1116V|PNPLA6_uc002mgr.1_Silent_p.V1143V|PNPLA6_uc002mgs.2_Silent_p.V1181V|PNPLA6_uc002mgt.1_RNA	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	1182	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						CTGACAAGGTAAAGGTTCCAG	0.612													G	7623881	A	G	7623881	2	3	115	1	0	0	0	0	0	0	0	1	12169	349	13	3		3	PNPLA6	19	7623881	Silent	SNP	A	TCGA-BR-A4CR-01A-11D-A24D-08	795706	7623881	51505102	66	74663											
ZNF253	56242	broad.mit.edu	37	chr19	20003002	20003002	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggaaaccctacaactgtgaaGaatgtggcaaatcctttaag	9	8	0	2			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr19:20003002G>T	uc002noj.2	+	4	1038	c.946G>T	c.(946-948)GAA>TAA	p.E316*	ZNF253_uc002nok.2_Nonsense_Mutation_p.E240*|ZNF253_uc002nol.2_RNA	NM_021047	NP_066385	O75346	ZN253_HUMAN	zinc finger protein 253	316	C2H2-type 6.			Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CAACTGTGAAGAATGTGGCAA	0.403													T	20003002	G	T	20003002	4	4	115	1	0	0	0	0	0	1	0	0	17794	943	33	5	960	5	ZNF253	19	20003002	Nonsense_Mutation	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08	12379121	20003002	39125981	67	74664											
ZNF98	148198	broad.mit.edu	37	chr19	22574985	22574985	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccttaccacattcttcacatTtgtagaatttctctccagta	3	12	3	1			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr19:22574985T>A	uc002nqt.2	-	4	1174	c.1052A>T	c.(1051-1053)AAA>ATA	p.K351I		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	351	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTCTTCACATTTGTAGAATTT	0.403													A	22574985	T	A	22574985	3	1	115	1	0	0	0	0	1	0	0	0	18200	1841	64	5	670	5	ZNF98	19	22574985	Missense_Mutation	SNP	T	TCGA-BR-A4CR-01A-11D-A24D-08	2571983	22574985	36553998	68	74665											
ARHGAP33	115703	broad.mit.edu	37	chr19	36278842	36278842	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacggcatgcttggccaatcAcccccactccacaggtcccc	7	19	1	0			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr19:36278842A>C	uc002obs.1	+	21	2977	c.2892A>C	c.(2890-2892)TCA>TCC	p.S964S	ARHGAP33_uc002obt.1_Silent_p.S961S|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Silent_p.S713S	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	1125					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						TTGGCCAATCACCCCCACTCC	0.667													C	36278842	A	C	36278842	2	2	115	1	0	0	0	0	0	0	0	1	882	146	6	5		5	ARHGAP33	19	36278842	Silent	SNP	A	TCGA-BR-A4CR-01A-11D-A24D-08	13703857	36278842	22850141	69	74666											
KLK1	3816	broad.mit.edu	37	chr19	51322541	51322541	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tattgggggtgccacaagggAcgtagccccatgatgtgaca	14	9	0	2			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr19:51322541A>T	uc002ptk.1	-	5	737	c.698T>A	c.(697-699)GTC>GAC	p.V233D	KLK1_uc010ycg.1_RNA	NM_002257	NP_002248	P06870	KLK1_HUMAN	kallikrein 1 preproprotein	233	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity				0		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCACAAGGGACGTAGCCCCA	0.582													T	51322541	A	T	51322541	3	4	115	1	0	0	0	0	1	0	0	0	8397	275	10	5	94	5	KLK1	19	51322541	Missense_Mutation	SNP	A	TCGA-BR-A4CR-01A-11D-A24D-08	15043699	51322541	7806442	70	74667											
RIMS4	140730	broad.mit.edu	37	chr20	43386771	43386771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccggccccatgcttccCaggaagtcactgaactgggc	12	14	1	1			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr20:43386771C>T	uc002xms.2	-	3	291	c.291G>A	c.(289-291)CTG>CTA	p.L97L	RIMS4_uc010ggu.2_Silent_p.L98L	NM_182970	NP_892015	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	97					exocytosis|neurotransmitter transport	cell junction|synapse				ovary(4)|central_nervous_system(1)	5		Myeloproliferative disorder(115;0.0122)				CCATGCTTCCCAGGAAGTCAC	0.572													T	43386771	C	T	43386771	2	4	115	1	0	0	0	0	0	0	0	1	13370	581	21	4		4	RIMS4	20	43386771	Silent	SNP	C	TCGA-BR-A4CR-01A-11D-A24D-08		43386771	19638749	71	74668											
SLC17A9	63910	broad.mit.edu	37	chr20	61594078	61594078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgctttgggtgtggtaCgtgtacaggtacctgctgag	14	8	0	1			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr20:61594078C>T	uc002yea.3	+	5	784	c.600C>T	c.(598-600)TAC>TAT	p.Y200Y	SLC17A9_uc002ydz.3_Silent_p.Y194Y|SLC17A9_uc011aap.1_Silent_p.Y220Y	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	vesicular nucleotide transporter SLC17A9	200	Helical; (Potential).				exocytosis|transmembrane transport	integral to membrane	transporter activity			ovary(1)|skin(1)	2						GGGTGTGGTACGTGTACAGGT	0.657													T	61594078	C	T	61594078	2	4	115	1	0	0	0	0	0	0	0	1	14424	547	19	1		1	SLC17A9	20	61594078	Silent	SNP	C	TCGA-BR-A4CR-01A-11D-A24D-08	18207307	61594078	1431442	72	74669											
KCNQ2	3785	broad.mit.edu	37	chr20	62046425	62046441	+	Frame_Shift_Del	DEL	GGCAGCCACGCCTCGGG	GGCAGCCACGCCTCGGG	-													tgcggggaccccttccccttGgcagccacgcctcgggggct					rs118192226	byFrequency	TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr20:62046424_62046440TGGCAGCCACGCCTCGGG>T	uc002yey.1	-	12	1518_1534	c.1341_1357CCCGAGGCGTGGCTGCCA>A	c.(1339-1359)ccccgaggcgtggctgccaagfs	p.P447fs	KCNQ2_uc002yez.1_Frame_Shift_Del_p.P417fs|KCNQ2_uc002yfa.1_Frame_Shift_Del_p.P429fs|KCNQ2_uc002yfb.1_Frame_Shift_Del_p.P419fs	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	447					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGA	0.618													-	62046441	GGCAGCCACGCCTCGGG	-	62046425	7	5	115	1	0	1	0	1	0	0	0	0	8083	1335	47	0	1282	0	KCNQ2	20	62046425	Frame_Shift_Del	DEL	GGCAGCCACGCCTCGGG	TCGA-BR-A4CR-01A-11D-A24D-08	452347	62046425	979095	73	74670											
MICAL3	57553	broad.mit.edu	37	chr22	18389499	18389499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctggaaagccttgagggttCccttgcaggtggtggcctgg	16	10	0	1			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr22:18389499C>T	uc002zng.3	-	2	433	c.80G>A	c.(79-81)GGA>GAA	p.G27E	MICAL3_uc011agl.1_Missense_Mutation_p.G27E|MICAL3_uc002znh.2_Missense_Mutation_p.G27E|MICAL3_uc002znk.1_Missense_Mutation_p.G27E|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Missense_Mutation_p.G27E|MICAL3_uc011agm.1_Missense_Mutation_p.G27E	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	27						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		CTTGAGGGTTCCCTTGCAGGT	0.537													T	18389499	C	T	18389499	3	4	115	1	0	0	0	0	1	0	0	0	9571	855	30	4	6789	4	MICAL3	22	18389499	Missense_Mutation	SNP	C	TCGA-BR-A4CR-01A-11D-A24D-08		18389499	32915067	74	74671											
TPST2	8459	broad.mit.edu	37	chr22	26932452	26932452	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtccgtggaccgctcgatCctggggagagaggagacgct	17	10	0	2			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr22:26932452C>T	uc003acv.2	-	3	1011	c.843G>A	c.(841-843)AAG>AAA	p.K281K	TPST2_uc003acw.2_Silent_p.K281K|TPST2_uc003acx.2_Silent_p.K281K	NM_003595	NP_003586	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	281	Lumenal (Potential).				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)	1						ACCGCTCGATCCTGGGGAGAG	0.537													T	26932452	C	T	26932452	2	4	115	1	0	0	0	0	0	0	0	1	16425	869	30	4		4	TPST2	22	26932452	Silent	SNP	C	TCGA-BR-A4CR-01A-11D-A24D-08	8542953	26932452	24372114	75	74672											
CPXCR1	53336	broad.mit.edu	37	chrX	88009104	88009104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagggaaatgtagattccGtgctattgtgaggtctgtgc	13	5	1	2			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chrX:88009104G>A	uc004efd.3	+	3	948	c.689G>A	c.(688-690)CGT>CAT	p.R230H	CPXCR1_uc004efc.3_Missense_Mutation_p.R230H	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	230						intracellular	zinc ion binding			ovary(3)	3						TGTAGATTCCGTGCTATTGTG	0.383													A	88009104	G	A	88009104	3	1	115	1	0	0	0	0	1	0	0	0	3836	1145	40	1	691	1	CPXCR1	23	88009104	Missense_Mutation	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08		88009104	67261456	76	74673											
IRS4	8471	broad.mit.edu	37	chrX	107979402	107979402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaccgggagccagtggccGtggagagccacatggctccc	15	14	0	2			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chrX:107979402G>A	uc004eoc.2	-	1	206	c.173C>T	c.(172-174)ACG>ATG	p.T58M		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	58						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						GCCAGTGGCCGTGGAGAGCCA	0.647													A	107979402	G	A	107979402	3	1	115	1	0	0	0	0	1	0	0	0	7842	1145	40	1	3604	1	IRS4	23	107979402	Missense_Mutation	SNP	G	TCGA-BR-A4CR-01A-11D-A24D-08	19970298	107979402	47291158	77	74674											
PTPRU	10076	broad.mit.edu	37	chr1	29638252	29638252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggctgagtatgtcgtgcGcacttttgccctggagcggg	15	11	0	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:29638252G>A	uc001bru.2	+	22	3193	c.3083G>A	c.(3082-3084)CGC>CAC	p.R1028H	PTPRU_uc001brv.2_Missense_Mutation_p.R1024H|PTPRU_uc001brw.2_Missense_Mutation_p.R1018H|PTPRU_uc009vtq.2_Missense_Mutation_p.R1024H|PTPRU_uc009vtr.2_Missense_Mutation_p.R1015H	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1028	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TATGTCGTGCGCACTTTTGCC	0.602													A	29638252	G	A	29638252	3	1	116	1	0	0	0	0	1	0	0	0	12813	1087	38	1	3191	1	PTPRU	1	29638252	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08		29638252	219612369	1	74675											
MACF1	23499	broad.mit.edu	37	chr1	39799060	39799061	+	Frame_Shift_Ins	INS	-	-	G													gatgaggaagatagtggcagINSggaaatttttctgtcatgca							TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:39799059_39799060A>AG	uc021olw.1	+	0	2119_2120	c.2119_2120A>AG	c.(2119-2121)aggfs	p.R707fs	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2272					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391													G	39799061	-	G	39799060	7	5	116	1	0	1	1	0	0	0	0	0	9144	1000	35	0	6891	0	MACF1	1	39799060	Frame_Shift_Ins	INS	-	TCGA-BR-A4CS-01A-11D-A24D-08	10160808	39799060	209451561	2	74676											
CYP4B1	1580	broad.mit.edu	37	chr1	47280902	47280902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgttgtagagaggaggtcCgcgagatcctaggggaccag	16	8	0	2	rs56180718		TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:47280902C>T	uc001cqm.3	+	8	1120	c.1036C>T	c.(1036-1038)CGC>TGC	p.R346C	CYP4B1_uc009vyl.1_Missense_Mutation_p.R183C|CYP4B1_uc001cqn.3_Missense_Mutation_p.R347C|CYP4B1_uc009vym.2_Missense_Mutation_p.R332C|CYP4B1_uc010omk.1_Missense_Mutation_p.R183C	NM_000779	NP_000770	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	346					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					AGAGGAGGTCCGCGAGATCCT	0.582													T	47280902	C	T	47280902	3	4	116	1	0	0	0	0	1	0	0	0	4185	652	23	1	1069	1	CYP4B1	1	47280902	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	7481842	47280902	201969719	3	74677											
LRRC7	57554	broad.mit.edu	37	chr1	70505052	70505052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccaactgataggtacgGcagacccccatataggggag	12	13	0	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:70505052G>A	uc001dep.2	+	19	3461	c.3431G>A	c.(3430-3432)GGC>GAC	p.G1144D	LRRC7_uc009wbg.2_Missense_Mutation_p.G428D|LRRC7_uc001deq.2_Missense_Mutation_p.G385D	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1144						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						GATAGGTACGGCAGACCCCCA	0.552													A	70505052	G	A	70505052	3	1	116	1	0	0	0	0	1	0	0	0	9020	1203	42	2	3505	2	LRRC7	1	70505052	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	23224150	70505052	178745569	4	74678											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507414	74507414	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aaactctttcatactccgctCcaatcgtatgtcttttttaa	3	11	3	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:74507414C>G	uc001dfy.3	-	7	1393	c.1201G>C	c.(1201-1203)GAG>CAG	p.E401Q	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	401										ovary(2)	2						ATACTCCGCTCCAATCGTATG	0.358													G	74507414	C	G	74507414	3	3	116	1	0	0	0	0	1	0	0	0	9030	864	30	5	681	5	LRRIQ3	1	74507414	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	4002362	74507414	174743207	5	74679											
SPAG17	200162	broad.mit.edu	37	chr1	118623787	118623787	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctctaacagctgtctattatCagggactgagagtttgagat	10	7	3	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:118623787C>G	uc001ehk.2	-	15	2214	c.2146G>C	c.(2146-2148)GAT>CAT	p.D716H		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	716						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGTCTATTATCAGGGACTGAG	0.368													G	118623787	C	G	118623787	3	3	116	1	0	0	0	0	1	0	0	0	14979	826	29	5	4661	5	SPAG17	1	118623787	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	44116373	118623787	130626834	6	74680											
GJA8	2703	broad.mit.edu	37	chr1	147380425	147380425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcgaggcggaggagctgGgccagcaggcggggactaac	20	11	0	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:147380425G>A	uc001epu.1	+	2	406	c.343G>A	c.(343-345)GGC>AGC	p.G115S		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	115	Cytoplasmic (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					GGAGGAGCTGGGCCAGCAGGC	0.657													A	147380425	G	A	147380425	3	1	116	1	0	0	0	0	1	0	0	0	6405	1232	43	4	345	4	GJA8	1	147380425	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	28756638	147380425	101870196	7	74681											
KIRREL	55243	broad.mit.edu	37	chr1	158063171	158063171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggggccaccatcggcgCgagcatcctgctcatcttct	11	15	3	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:158063171C>T	uc001frn.3	+	12	1918	c.1514C>T	c.(1513-1515)GCG>GTG	p.A505V	KIRREL_uc010pib.1_Missense_Mutation_p.A405V|KIRREL_uc009wsq.2_Missense_Mutation_p.A341V|KIRREL_uc001fro.3_Missense_Mutation_p.A319V	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	505	Helical; (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					ACCATCGGCGCGAGCATCCTG	0.582													T	158063171	C	T	158063171	3	4	116	1	0	0	0	0	1	0	0	0	8324	768	27	1	1560	1	KIRREL	1	158063171	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	10682746	158063171	91187450	8	74682											
PBX1	5087	broad.mit.edu	37	chr1	164761730	164761730	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttccctgtctttttctgtaGttttgagtatccgaggagcc	9	10	2	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:164761730G>C	uc001gct.2	+	3	524	c.266_splice	c.e3-1	p.V89_splice	PBX1_uc010pku.1_Splice_Site_p.V89_splice|PBX1_uc010pkv.1_Splice_Site_p.V6_splice|PBX1_uc001gcs.2_Splice_Site_p.V89_splice|PBX1_uc010pkw.1_Splice_Site	NM_002585	NP_002576	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1						negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	soft_tissue(3)|lung(1)|skin(1)	5						TTTTTCTGTAGTTTTGAGTAT	0.488			T	TCF3|EWSR1	pre B-ALL|myoepithelioma								C	164761730	G	C	164761730	5	2	116	1	0	0	0	0	0	0	1	0	11492	1043	36	5	275	5	PBX1	1	164761730	Splice_Site	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	6698559	164761730	84488891	9	74683											
PAPPA2	60676	broad.mit.edu	37	chr1	176668245	176668245	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccccccagggcctcctgAtgtggatcagccctgcgagc	11	17	2	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:176668245A>C	uc001gkz.2	+	8	3920	c.2756A>C	c.(2755-2757)GAT>GCT	p.D919A	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	919					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						GGGCCTCCTGATGTGGATCAG	0.542													C	176668245	A	C	176668245	3	2	116	1	0	0	0	0	1	0	0	0	11433	333	12	5	2835	5	PAPPA2	1	176668245	Missense_Mutation	SNP	A	TCGA-BR-A4CS-01A-11D-A24D-08	11906515	176668245	72582376	10	74684											
CFH	3075	broad.mit.edu	37	chr1	196695654	196695654	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcaatgggaatgttaaggAaaaaacgaaagaagaatatg	10	4	1	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:196695654A>G	uc001gtj.3	+	13	2168	c.1928A>G	c.(1927-1929)GAA>GGA	p.E643G		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	643	Sushi 11.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						AATGTTAAGGAAAAAACGAAA	0.338													G	196695654	A	G	196695654	3	3	116	1	0	0	0	0	1	0	0	0	3283	246	9	3	1996	3	CFH	1	196695654	Missense_Mutation	SNP	A	TCGA-BR-A4CS-01A-11D-A24D-08	20027409	196695654	52554967	11	74685											
PLXNA2	5362	broad.mit.edu	37	chr1	208201480	208201480	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcctggtcactgatggctggGagcttggcgatgtctgcgta	15	9	2	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:208201480G>C	uc001hgz.2	-	31	6221	c.5463C>G	c.(5461-5463)CTC>CTG	p.L1821L	PLXNA2_uc001hgy.2_Silent_p.L91L	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1821	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGATGGCTGGGAGCTTGGCGA	0.577													C	208201480	G	C	208201480	2	2	116	1	0	0	0	0	0	0	0	1	12120	1161	41	5		5	PLXNA2	1	208201480	Silent	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	11505826	208201480	41049141	12	74686											
C1orf107	27042	broad.mit.edu	37	chr1	210015666	210015666	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcacatggggtagacttttcTcgagtgcggatgtggagcct	14	8	2	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:210015666T>A	uc001hhr.1	+	9	1618	c.1542T>A	c.(1540-1542)TCT>TCA	p.S514S	C1orf107_uc009xcu.1_Silent_p.S229S	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	digestive-organ expansion factor homolog	514					multicellular organismal development	nucleus					0				OV - Ovarian serous cystadenocarcinoma(81;0.0367)		TAGACTTTTCTCGAGTGCGGA	0.453													A	210015666	T	A	210015666	2	1	116	1	0	0	0	0	0	0	0	1	1981	1538	54	5		5	C1orf107	1	210015666	Silent	SNP	T	TCGA-BR-A4CS-01A-11D-A24D-08	1814186	210015666	39234955	13	74687											
IARS2	55699	broad.mit.edu	37	chr1	220298662	220298662	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccccctgaacaacttcttcCaaaagaagtcttatctgagg	6	12	3	3			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:220298662C>G	uc001hmc.2	+	13	1828	c.1724C>G	c.(1723-1725)CCA>CGA	p.P575R		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	575					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CAACTTCTTCCAAAAGAAGTC	0.383													G	220298662	C	G	220298662	3	3	116	1	0	0	0	0	1	0	0	0	7474	594	21	5	1774	5	IARS2	1	220298662	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	10282996	220298662	28951959	14	74688											
B3GALNT2	148789	broad.mit.edu	37	chr1	235613601	235613603	+	In_Frame_Del	DEL	GAG	GAG	-													cagttcccacggagaatactGaggagaagacagcattcctg							TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:235613600_235613602TGAG>T	uc001hxc.2	-	11	1651_1653	c.1422_1424CTCA>A	c.(1420-1425)cctcag>ccAg	p.Q475del		NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2), mRNA.	475					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	p.Q475Q(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CGGAGAATACTGAGGAGAAGACA	0.483													-	235613603	GAG	-	235613601	7	5	116	1	0	1	0	1	0	0	0	0	1246	1299	45	0	83	0	B3GALNT2	1	235613601	In_Frame_Del	DEL	GAG	TCGA-BR-A4CS-01A-11D-A24D-08	15314939	235613601	13637020	15	74689											
FMN2	56776	broad.mit.edu	37	chr1	240555826	240555826	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagccaaaattgaccaagAggcagaggaaaattcactga	9	8	2	4	rs112553360		TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:240555826A>C	uc010pyd.1	+	15	5099	c.4874A>C	c.(4873-4875)GAG>GCG	p.E1625A	FMN2_uc010pye.1_Missense_Mutation_p.E1629A|FMN2_uc010pyf.1_Missense_Mutation_p.E240A|FMN2_uc010pyg.1_Missense_Mutation_p.E221A	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1625	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATTGACCAAGAGGCAGAGGAA	0.338													C	240555826	A	C	240555826	3	2	116	1	0	0	0	0	1	0	0	0	5950	304	11	5	4932	5	FMN2	1	240555826	Missense_Mutation	SNP	A	TCGA-BR-A4CS-01A-11D-A24D-08	4942225	240555826	8694795	16	74690											
SPAST	6683	broad.mit.edu	37	chr2	32289152	32289152	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctctgccagcgcttctcccgCgccctcatggcagccaagag	10	18	3	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr2:32289152C>G	uc002roc.2	+	1	473	c.252C>G	c.(250-252)CGC>CGG	p.R84R	SPAST_uc002rod.2_Silent_p.R84R	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	spastin isoform 1	84	Required for interaction with RTN1.|Required for interaction with SSNA1 and microtubules.|Required for midbody localization.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTTCTCCCGCGCCCTCATGG	0.711													G	32289152	C	G	32289152	2	3	116	1	0	0	0	0	0	0	0	1	14996	755	27	5		5	SPAST	2	32289152	Silent	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08		32289152	210910221	17	74691											
SPAST	6683	broad.mit.edu	37	chr2	32362007	32362007	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgatgctagtagacgcctAaaaactgaatttctaataga	7	8	1	3			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr2:32362007A>G	uc002roc.2	+	11	1604	c.1383A>G	c.(1381-1383)CTA>CTG	p.L461L	SPAST_uc002rod.2_Silent_p.L429L	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	spastin isoform 1	461	Sufficient for microtubule severing.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GTAGACGCCTAAAAACTGAAT	0.328													G	32362007	A	G	32362007	2	3	116	1	0	0	0	0	0	0	0	1	14996	349	13	3		3	SPAST	2	32362007	Silent	SNP	A	TCGA-BR-A4CS-01A-11D-A24D-08	72855	32362007	210837366	18	74692											
DPP10	57628	broad.mit.edu	37	chr2	116101431	116101431	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cagaaaccagattgtctttgGaagacctctttaggaaagac	9	8	2	4			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr2:116101431G>C	uc002tla.1	+	3	671	c.214G>C	c.(214-216)GAA>CAA	p.E72Q	DPP10_uc002tlb.1_Missense_Mutation_p.E22Q|DPP10_uc002tlc.1_Missense_Mutation_p.E68Q|DPP10_uc002tle.2_Missense_Mutation_p.E76Q|DPP10_uc002tlf.1_Missense_Mutation_p.E65Q	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	72	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						ATTGTCTTTGGAAGACCTCTT	0.353													C	116101431	G	C	116101431	3	2	116	1	0	0	0	0	1	0	0	0	4727	1175	41	5	395	5	DPP10	2	116101431	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	83739424	116101431	127097942	19	74693											
BIN1	274	broad.mit.edu	37	chr2	127864487	127864487	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acgttgctggcgatctttccCgccgtcacccctttactgcc	8	17	2	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr2:127864487C>G	uc002tns.1	-	1	378	c.33G>C	c.(31-33)GCG>GCC	p.A11A	BIN1_uc010yzg.1_Silent_p.A11A|BIN1_uc002tnu.1_Silent_p.A11A|BIN1_uc002toa.1_Silent_p.A11A|BIN1_uc002tnt.1_Silent_p.A11A|BIN1_uc002tnv.1_Silent_p.A11A|BIN1_uc002tnw.1_Silent_p.A11A|BIN1_uc002tnx.1_Silent_p.A11A|BIN1_uc002tny.1_Silent_p.A11A|BIN1_uc002tnz.1_Silent_p.A11A|BIN1_uc002tob.1_Silent_p.A11A|BIN1_uc002toc.1_Silent_p.A11A	NM_139343	NP_647593	O00499	BIN1_HUMAN	bridging integrator 1 isoform 1	11	Interaction with BIN2.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				ovary(2)|central_nervous_system(2)|skin(2)|lung(1)	7	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CGATCTTTCCCGCCGTCACCC	0.726													G	127864487	C	G	127864487	2	3	116	1	0	0	0	0	0	0	0	1	1432	639	23	5		5	BIN1	2	127864487	Silent	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	11763056	127864487	115334886	20	74694											
GPR17	2840	broad.mit.edu	37	chr2	128408831	128408831	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgagcccacagaccgtgcaGaccaaccacacggtggtctg	12	14	1	3			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr2:128408831G>T	uc010yzn.1	+	4	1217	c.606G>T	c.(604-606)CAG>CAT	p.Q202H	LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.Q202H|GPR17_uc010yzo.1_Missense_Mutation_p.Q174H|GPR17_uc002tpd.2_Missense_Mutation_p.Q174H	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN	G protein-coupled receptor 17 isoform a	202	Extracellular (Potential).					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		AGACCGTGCAGACCAACCACA	0.662													T	128408831	G	T	128408831	3	4	116	1	0	0	0	0	1	0	0	0	6667	933	33	5	612	5	GPR17	2	128408831	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	544344	128408831	114790542	21	74695											
NCKAP5	344148	broad.mit.edu	37	chr2	133540880	133540880	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaactgtctttttcatgtttCcctggcacggtggaactttt	8	9	2	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr2:133540880C>T	uc002ttp.2	-	14	3878	c.3504G>A	c.(3502-3504)GGG>GGA	p.G1168G	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1168							protein binding				0						TTTCATGTTTCCCTGGCACGG	0.478													T	133540880	C	T	133540880	2	4	116	1	0	0	0	0	0	0	0	1	10223	842	30	4		4	NCKAP5	2	133540880	Silent	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	5132049	133540880	109658493	22	74696											
NCKAP5	344148	broad.mit.edu	37	chr2	133547605	133547605	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagtgccttacccttttcctGaggttcttcccatcgtgcca	7	15	1	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr2:133547605G>A	uc002ttp.2	-	13	1457	c.1083C>T	c.(1081-1083)CTC>CTT	p.L361L	NCKAP5_uc002ttq.2_Silent_p.L361L	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	361	Ser-rich.						protein binding				0						CCCTTTTCCTGAGGTTCTTCC	0.522													A	133547605	G	A	133547605	2	1	116	1	0	0	0	0	0	0	0	1	10223	1277	45	4		4	NCKAP5	2	133547605	Silent	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	6725	133547605	109651768	23	74697											
NEB	4703	broad.mit.edu	37	chr2	152369283	152369283	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgacttgttgggcatgaatGatctctggagtatcaaccac	10	8	2	3			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr2:152369283G>A	uc010fnx.2	-	133	18398	c.18207C>T	c.(18205-18207)ATC>ATT	p.I6069I	NEB_uc002txr.2_Silent_p.I2492I|NEB_uc002txt.3_Silent_p.I574I	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	6069	Nebulin 166.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGCATGAATGATCTCTGGAG	0.398													A	152369283	G	A	152369283	2	1	116	1	0	0	0	0	0	0	0	1	10302	1280	45	4		4	NEB	2	152369283	Silent	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	18821678	152369283	90830090	24	74698											
TTN	7273	broad.mit.edu	37	chr2	179600641	179600641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgtttgttttctgcgtcGgaaatcctccagttaggtga	11	7	1	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr2:179600641G>A	uc010zfg.1	-	47	11024	c.10800C>T	c.(10798-10800)TCC>TCT	p.S3600S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S261S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4527							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTGCGTCGGAAATCCTCC	0.438													A	179600641	G	A	179600641	2	1	116	1	0	0	0	0	0	0	0	1	16732	1103	39	1		1	TTN	2	179600641	Silent	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	27231358	179600641	63598732	25	74699											
MARS2	92935	broad.mit.edu	37	chr2	198570228	198570228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctactacagttcgggctcCctcagtgccggcgatgatgc	12	14	1	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr2:198570228C>T	uc002uuq.2	+	1	142	c.99C>T	c.(97-99)TCC>TCT	p.S33S	uc002uup.2_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	methionine-tRNA synthetase 2 precursor	33					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3					L-Methionine(DB00134)	GTTCGGGCTCCCTCAGTGCCG	0.627													T	198570228	C	T	198570228	2	4	116	1	0	0	0	0	0	0	0	1	9317	610	22	4		4	MARS2	2	198570228	Silent	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	18969587	198570228	44629145	26	74700											
AGAP1	116987	broad.mit.edu	37	chr2	236949436	236949436	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggccatggccctgcagtcGatccggaacatgcgcgggaa	15	12	0	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr2:236949436G>A	uc002vvs.2	+	15	2437	c.1842G>A	c.(1840-1842)TCG>TCA	p.S614S	AGAP1_uc002vvt.2_Silent_p.S561S	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	614	Arf-GAP.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						CCCTGCAGTCGATCCGGAACA	0.622													A	236949436	G	A	236949436	2	1	116	1	0	0	0	0	0	0	0	1	366	1045	37	1		1	AGAP1	2	236949436	Silent	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	38379208	236949436	6249937	27	74701											
XCR1	2829	broad.mit.edu	37	chr3	46062775	46062775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagatgagcttgaccgtgCggtggcgccgcttggagcgt	17	10	0	3			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr3:46062775C>T	uc003cpe.2	-	3	889	c.665G>A	c.(664-666)CGC>CAC	p.R222H	uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Missense_Mutation_p.R222H	NM_005283	NP_005274	P46094	XCR1_HUMAN	XC chemokine receptor 1	222	Cytoplasmic (Potential).				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CTTGACCGTGCGGTGGCGCCG	0.587													T	46062775	C	T	46062775	3	4	116	1	0	0	0	0	1	0	0	0	17422	768	27	1	340	1	XCR1	3	46062775	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08		46062775	151959655	28	74702											
GRM2	2912	broad.mit.edu	37	chr3	51749182	51749182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgcgtgcaggcagtgggCgctatcgctaccagaaggtg	15	10	1	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr3:51749182C>T	uc010hlv.2	+	4	1632	c.1393C>T	c.(1393-1395)CGC>TGC	p.R465C	GRM2_uc003dbo.3_5'UTR|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	465	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	AGGCAGTGGGCGCTATCGCTA	0.612													T	51749182	C	T	51749182	3	4	116	1	0	0	0	0	1	0	0	0	6797	768	27	1	1403	1	GRM2	3	51749182	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	5686407	51749182	146273248	29	74703											
FLNB	2317	broad.mit.edu	37	chr3	58134046	58134046	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattaaggccccatctggcCgagacgagccctgtctcctg	11	15	2	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr3:58134046C>T	uc003djj.2	+	35	6007	c.5842C>T	c.(5842-5844)CGA>TGA	p.R1948*	FLNB_uc010hne.2_Nonsense_Mutation_p.R1979*|FLNB_uc003djk.2_Nonsense_Mutation_p.R1937*|FLNB_uc010hnf.2_Nonsense_Mutation_p.R1924*|FLNB_uc003djl.2_Nonsense_Mutation_p.R1768*|FLNB_uc003djm.2_Nonsense_Mutation_p.R1755*|FLNB_uc010hng.1_5'Flank	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	1948	Filamin 18.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCCATCTGGCCGAGACGAGCC	0.607													T	58134046	C	T	58134046	4	4	116	1	0	0	0	0	0	1	0	0	5934	644	23	1	6077	1	FLNB	3	58134046	Nonsense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	6384864	58134046	139888384	30	74704											
TMF1	7110	broad.mit.edu	37	chr3	69101186	69101186	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatagacttctgggcctgggAcagggcctgcttagcgaagc	14	10	1	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr3:69101186A>G	uc003dnn.2	-	1	299	c.52T>C	c.(52-54)TCC>CCC	p.S18P	TMF1_uc011bfx.1_Missense_Mutation_p.S18P|hsa-mir-3136|MI0014158_5'Flank	NM_007114	NP_009045	P82094	TMF1_HUMAN	TATA element modulatory factor 1	18					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity				0		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TGGGCCTGGGACAGGGCCTGC	0.627													G	69101186	A	G	69101186	3	3	116	1	0	0	0	0	1	0	0	0	16225	275	10	3	3297	3	TMF1	3	69101186	Missense_Mutation	SNP	A	TCGA-BR-A4CS-01A-11D-A24D-08	10967140	69101186	128921244	31	74705											
VGLL3	389136	broad.mit.edu	37	chr3	87018199	87018199	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactccccccaaacaaggtgCaggtgggggctggtaagagc	14	11	0	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr3:87018199C>A	uc003dqn.2	-	3	842	c.478G>T	c.(478-480)GCA>TCA	p.A160S		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AAACAAGGTGCAGGTGGGGGC	0.532													A	87018199	C	A	87018199	3	1	116	1	0	0	0	0	1	0	0	0	17157	710	25	5	510	5	VGLL3	3	87018199	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	17917013	87018199	111004231	32	74706											
COL8A1	1295	broad.mit.edu	37	chr3	99513916	99513916	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaatagggggtcctccaggaGagccaggcctgcctggaatc	15	11	0	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr3:99513916G>A	uc003dtg.1	+	5	1416	c.1171G>A	c.(1171-1173)GAG>AAG	p.E391K	COL8A1_uc003dth.1_Missense_Mutation_p.E391K|COL8A1_uc003dti.1_Missense_Mutation_p.E392K	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	391	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						TCCTCCAGGAGAGCCAGGCCT	0.612													A	99513916	G	A	99513916	3	1	116	1	0	0	0	0	1	0	0	0	3705	943	33	4	1177	4	COL8A1	3	99513916	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	12495717	99513916	98508514	33	74707											
ITGB5	3693	broad.mit.edu	37	chr3	124492671	124492671	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atctggccatctctgccccgGcatgtgctgatgtctgtcga	11	13	3	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr3:124492671G>C	uc003eho.2	-	11	2079	c.1782C>G	c.(1780-1782)TGC>TGG	p.C594W	ITGB5_uc010hrx.2_RNA|ITGB5_uc003ehp.1_RNA	NM_002213	NP_002204	P18084	ITB5_HUMAN	integrin, beta 5 precursor	594	IV.|Extracellular (Potential).|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			skin(2)	2				GBM - Glioblastoma multiforme(114;0.163)		CTCTGCCCCGGCATGTGCTGA	0.587													C	124492671	G	C	124492671	3	2	116	1	0	0	0	0	1	0	0	0	7898	1195	42	5	637	5	ITGB5	3	124492671	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	24978755	124492671	73529759	34	74708											
CPNE4	131034	broad.mit.edu	37	chr3	131404727	131404727	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgactcttacctcagttcGgtgcaccagctgctgagttg	11	11	2	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr3:131404727G>A	uc003eok.2	-	6	1018	c.583C>T	c.(583-585)CGA>TGA	p.R195*	CPNE4_uc011blq.1_Nonsense_Mutation_p.R213*|CPNE4_uc003eol.2_Nonsense_Mutation_p.R213*|CPNE4_uc003eom.2_Nonsense_Mutation_p.R195*	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	195	C2 2.									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						ACCTCAGTTCGGTGCACCAGC	0.378													A	131404727	G	A	131404727	4	1	116	1	0	0	0	0	0	1	0	0	3814	1124	39	1	1134	1	CPNE4	3	131404727	Nonsense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	6912056	131404727	66617703	35	74709											
DNAJC13	23317	broad.mit.edu	37	chr3	132166238	132166238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagttcaacctcacatttcGtaaaggcagtggaaaaaagt	10	7	2	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr3:132166238G>A	uc003eor.2	+	4	283	c.218G>A	c.(217-219)CGT>CAT	p.R73H	DNAJC13_uc010htq.1_Missense_Mutation_p.R73H	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	73							heat shock protein binding			ovary(1)|breast(1)	2						CTCACATTTCGTAAAGGCAGT	0.368													A	132166238	G	A	132166238	3	1	116	1	0	0	0	0	1	0	0	0	4632	1145	40	1	228	1	DNAJC13	3	132166238	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	761511	132166238	65856192	36	74710											
STAG1	10274	broad.mit.edu	37	chr3	136117672	136117672	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgcagtgcttgcacgactatCtgtatcaaatgaaaaaaaat	7	7	2	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr3:136117672C>G	uc003era.1	-	22	2489	c.2197_splice	c.e22-1	p.I733_splice	STAG1_uc003erb.1_Splice_Site_p.I733_splice|STAG1_uc003erc.1_Splice_Site_p.I507_splice	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1						cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						GCACGACTATCTGTATCAAAT	0.308													G	136117672	C	G	136117672	5	3	116	1	0	0	0	0	0	0	1	0	15241	927	32	5	1632	5	STAG1	3	136117672	Splice_Site	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	3951434	136117672	61904758	37	74711											
SLC9A9	285195	broad.mit.edu	37	chr3	143185988	143185988	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catttgtttgggctgagattCtgtgttccgaatagctaagg	12	6	1	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr3:143185988C>T	uc003evn.2	-	12	1542	c.1360G>A	c.(1360-1362)GAA>AAA	p.E454K		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	454					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3						GGCTGAGATTCTGTGTTCCGA	0.458													T	143185988	C	T	143185988	3	4	116	1	0	0	0	0	1	0	0	0	14721	922	32	4	597	4	SLC9A9	3	143185988	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	7068316	143185988	54836442	38	74712											
KIT	3815	broad.mit.edu	37	chr4	55594074	55594074	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagatgcggccatgactgtCgctgtaaagatgctcaagcg	12	10	2	3			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr4:55594074C>T	uc010igr.2	+	12	1947	c.1860C>T	c.(1858-1860)GTC>GTT	p.V620V	KIT_uc010igs.2_Silent_p.V616V|KIT_uc010igt.1_Silent_p.V69V	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	620	Protein kinase.|Cytoplasmic (Potential).				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCATGACTGTCGCTGTAAAGA	0.458		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				T	55594074	C	T	55594074	2	4	116	1	0	0	0	0	0	0	0	1	8329	871	31	1		1	KIT	4	55594074	Silent	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08		55594074	135560202	39	74713											
GPRIN3	285513	broad.mit.edu	37	chr4	90170778	90170778	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggttgctctctatttgAggttctctgtgatctcatca	8	10	5	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr4:90170778A>G	uc003hsm.1	-	2	1003	c.484T>C	c.(484-486)TCA>CCA	p.S162P		NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	162										ovary(3)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCTCTATTTGAGGTTCTCTGT	0.517													G	90170778	A	G	90170778	3	3	116	1	0	0	0	0	1	0	0	0	6731	304	11	3	1850	3	GPRIN3	4	90170778	Missense_Mutation	SNP	A	TCGA-BR-A4CS-01A-11D-A24D-08	34576704	90170778	100983498	40	74714											
UNC5C	8633	broad.mit.edu	37	chr4	96137357	96137357	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagcgggaatcagcaagcTgactcctgaatagcaaaaga	10	11	1	3			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr4:96137357T>C	uc003htp.1	-	10	1805	c.1651A>G	c.(1651-1653)AGC>GGC	p.S551G	UNC5C_uc010ilc.1_Missense_Mutation_p.S570G|UNC5C_uc003htq.2_Missense_Mutation_p.S570G	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	551	Cytoplasmic (Potential).|ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ATCAGCAAGCTGACTCCTGAA	0.448													C	96137357	T	C	96137357	3	2	116	1	0	0	0	0	1	0	0	0	16990	1580	55	3	1172	3	UNC5C	4	96137357	Missense_Mutation	SNP	T	TCGA-BR-A4CS-01A-11D-A24D-08	5966579	96137357	95016919	41	74715											
HHIP	64399	broad.mit.edu	37	chr4	145568092	145568092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacagcccggggctagggCgcctggagaataaggtaggc	18	9	0	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr4:145568092C>T	uc003ijs.1	+	1	920	c.265C>T	c.(265-267)CGC>TGC	p.R89C	uc003ijq.1_5'Flank|HHIP_uc003ijr.1_Missense_Mutation_p.R89C	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	89						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GGGGCTAGGGCGCCTGGAGAA	0.627													T	145568092	C	T	145568092	3	4	116	1	0	0	0	0	1	0	0	0	7092	768	27	1	267	1	HHIP	4	145568092	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	49430735	145568092	45586184	42	74716											
NR3C2	4306	broad.mit.edu	37	chr4	149075976	149075976	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctttgcgggggtgggggTgggggtgggggctgctgctg	27	5	0	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr4:149075976T>G	uc003ilj.3	-	5	2425	c.2091A>C	c.(2089-2091)CCA>CCC	p.P697P	NR3C2_uc003ilk.3_Intron|NR3C2_uc010iph.2_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.428													G	149075976	T	G	149075976	2	3	116	1	0	0	0	0	0	0	0	1	10631	1683	59	5		5	NR3C2	4	149075976	Silent	SNP	T	TCGA-BR-A4CS-01A-11D-A24D-08	3507884	149075976	42078300	43	74717											
ODZ3	55714	broad.mit.edu	37	chr4	183600907	183600907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagagccgggcggcaggCgagatccgtcagccttcatg	17	11	2	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr4:183600907C>T	uc003ivd.1	+	7	1452	c.1415C>T	c.(1414-1416)GCG>GTG	p.A472V	ODZ3_uc003ive.1_5'Flank	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	472	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGGCGGCAGGCGAGATCCGTC	0.562													T	183600907	C	T	183600907	3	4	116	1	0	0	0	0	1	0	0	0	10836	768	27	1	1441	1	ODZ3	4	183600907	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	34524931	183600907	7553369	44	74718											
ODZ3	55714	broad.mit.edu	37	chr4	183721189	183721189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacgcgcaggttcgcggaCgtggagatgcagttcggcgc	18	10	0	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr4:183721189C>T	uc003ivd.1	+	27	7822	c.7785C>T	c.(7783-7785)GAC>GAT	p.D2595D		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2595	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGTTCGCGGACGTGGAGATGC	0.697													T	183721189	C	T	183721189	2	4	116	1	0	0	0	0	0	0	0	1	10836	535	19	1		1	ODZ3	4	183721189	Silent	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	120282	183721189	7433087	45	74719											
TRIML1	339976	broad.mit.edu	37	chr4	189068199	189068199	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaagtgggcatctgcaaggaCtctgtgagcagaaaggggaa	16	6	2	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr4:189068199C>G	uc003izm.1	+	6	1195	c.1080C>G	c.(1078-1080)GAC>GAG	p.D360E	TRIML1_uc003izn.1_Missense_Mutation_p.D84E	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	360	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TCTGCAAGGACTCTGTGAGCA	0.537													G	189068199	C	G	189068199	3	3	116	1	0	0	0	0	1	0	0	0	16547	564	20	5	1102	5	TRIML1	4	189068199	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	5347010	189068199	2086077	46	74720											
CDH12	1010	broad.mit.edu	37	chr5	21751951	21751951	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtcatagtcctggtcggcTtctgtggtgagagagtctat	13	7	3	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr5:21751951T>G	uc010iuc.2	-	12	2738	c.2280A>C	c.(2278-2280)GAA>GAC	p.E760D	CDH12_uc011cno.1_Missense_Mutation_p.E720D|CDH12_uc003jgk.2_Missense_Mutation_p.E760D|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	760	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						CCTGGTCGGCTTCTGTGGTGA	0.512										HNSCC(59;0.17)			G	21751951	T	G	21751951	3	3	116	1	0	0	0	0	1	0	0	0	3098	1606	56	5	108	5	CDH12	5	21751951	Missense_Mutation	SNP	T	TCGA-BR-A4CS-01A-11D-A24D-08		21751951	159163309	47	74721											
CDH10	1008	broad.mit.edu	37	chr5	24488107	24488107	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttttcctcaatggctgcagGattcctcagggtgccgatat	10	10	2	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr5:24488107G>T	uc003jgr.1	-	12	2364	c.2032C>A	c.(2032-2034)CCT>ACT	p.P678T	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	678	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		ATGGCTGCAGGATTCCTCAGG	0.483										HNSCC(23;0.051)			T	24488107	G	T	24488107	3	4	116	1	0	0	0	0	1	0	0	0	3096	1174	41	5	338	5	CDH10	5	24488107	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	2736156	24488107	156427153	48	74722											
CDH9	1007	broad.mit.edu	37	chr5	26886139	26886139	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcactggttcaaaaaagaaTttgtgacctcggggagggtc	14	7	1	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr5:26886139T>G	uc003jgs.1	-	10	1735	c.1566A>C	c.(1564-1566)AAA>AAC	p.K522N	CDH9_uc011cnv.1_Missense_Mutation_p.K115N	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	522	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						CAAAAAAGAATTTGTGACCTC	0.318													G	26886139	T	G	26886139	3	3	116	1	0	0	0	0	1	0	0	0	3117	1490	52	5	815	5	CDH9	5	26886139	Missense_Mutation	SNP	T	TCGA-BR-A4CS-01A-11D-A24D-08	2398032	26886139	154029121	49	74723											
CD180	4064	broad.mit.edu	37	chr5	66480391	66480391	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atggctttgaaaagtgtcttCatgtatccagttaatctggc	9	7	3	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr5:66480391C>A	uc003juy.2	-	3	428	c.280G>T	c.(280-282)GAA>TAA	p.E94*		NM_005582	NP_005573	Q99467	CD180_HUMAN	CD180 molecule precursor	94	LRR 2.|Extracellular (Potential).				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			ovary(1)	1		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		AAAGTGTCTTCATGTATCCAG	0.338													A	66480391	C	A	66480391	4	1	116	1	0	0	0	0	0	1	0	0	2972	835	29	5	1709	5	CD180	5	66480391	Nonsense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	39594252	66480391	114434869	50	74724											
CMYA5	202333	broad.mit.edu	37	chr5	79027991	79027991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcacatttaaccagtgaaGtggagaagggagaaagggag	14	5	1	3			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr5:79027991G>A	uc003kgc.2	+	2	3475	c.3403G>A	c.(3403-3405)GTG>ATG	p.V1135M		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1135						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACCAGTGAAGTGGAGAAGGG	0.413													A	79027991	G	A	79027991	3	1	116	1	0	0	0	0	1	0	0	0	3590	1029	36	4	3409	4	CMYA5	5	79027991	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	12547600	79027991	101887269	51	74725											
MTX3	345778	broad.mit.edu	37	chr5	79285047	79285047	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccccttgttttgctgagagTtcataatcagcattatattt	7	8	2	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr5:79285047T>C	uc010jag.2	-	4	276	c.249A>G	c.(247-249)GAA>GAG	p.E83E	MTX3_uc010jah.2_Silent_p.E83E|MTX3_uc003kge.3_Silent_p.E22E|MTX3_uc003kgf.1_5'Flank	NM_001010891	NP_001010891	Q5HYI7	MTX3_HUMAN	metaxin 3	83					protein targeting to mitochondrion	mitochondrial outer membrane					0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		TTGCTGAGAGTTCATAATCAG	0.353													C	79285047	T	C	79285047	2	2	116	1	0	0	0	0	0	0	0	1	9969	1722	60	3		3	MTX3	5	79285047	Silent	SNP	T	TCGA-BR-A4CS-01A-11D-A24D-08	257056	79285047	101630213	52	74726											
SLCO4C1	353189	broad.mit.edu	37	chr5	101585438	101585438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggataataatatgatcgCgaacagttacaattggcatt	8	6	0	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr5:101585438C>T	uc003knm.2	-	9	1811	c.1524G>A	c.(1522-1524)TCG>TCA	p.S508S		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	508	Kazal-like.|Extracellular (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AATATGATCGCGAACAGTTAC	0.408													T	101585438	C	T	101585438	2	4	116	1	0	0	0	0	0	0	0	1	14730	755	27	1		1	SLCO4C1	5	101585438	Silent	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	22300391	101585438	79329822	53	74727											
GFRA3	2676	broad.mit.edu	37	chr5	137588726	137588726	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagggcacccagggctgtggCctcacagcagggttttcatt	14	11	2	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr5:137588726C>G	uc003lcn.2	-	8	1274	c.1134G>C	c.(1132-1134)AGG>AGC	p.R378S	GFRA3_uc003lco.2_Missense_Mutation_p.R347S	NM_001496	NP_001487	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3 preproprotein	378					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGGGCTGTGGCCTCACAGCAG	0.532													G	137588726	C	G	137588726	3	3	116	1	0	0	0	0	1	0	0	0	6349	738	26	5	72	5	GFRA3	5	137588726	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	36003288	137588726	43326534	54	74728											
PCDHA5	56143	broad.mit.edu	37	chr5	140201373	140201373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattgagatggtatattccCggagaggaagtctgggatcc	14	6	1	3			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr5:140201373C>T	uc003lhl.2	+	1	13	c.13C>T	c.(13-15)CGG>TGG	p.R5W	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.R5W|PCDHA5_uc003lhj.1_Missense_Mutation_p.R5W	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	5					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTATATTCCCGGAGAGGAAG	0.468													T	140201373	C	T	140201373	3	4	116	1	0	0	0	0	1	0	0	0	11527	643	23	1	15	1	PCDHA5	5	140201373	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	2612647	140201373	40713887	55	74729											
PCDHGB1	56104	broad.mit.edu	37	chr5	140730590	140730590	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccaagaaaacgtaccgtggGgaacctccgtgctgcgggtg	14	11	0	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr5:140730590G>T	uc003ljo.1	+	1	763	c.763G>T	c.(763-765)GGA>TGA	p.G255*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Nonsense_Mutation_p.G255*	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	255	Extracellular (Potential).|Cadherin 3.				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)			CGTACCGTGGGGAACCTCCGT	0.522													T	140730590	G	T	140730590	4	4	116	1	0	0	0	0	0	1	0	0	11562	1233	43	5	765	5	PCDHGB1	5	140730590	Nonsense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	529217	140730590	40184670	56	74730											
ATP10B	23120	broad.mit.edu	37	chr5	160047768	160047768	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagtcacctccactgcacaCagatgcatcatctctctcat	6	15	4	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr5:160047768C>A	uc003lym.1	-	15	2849	c.2002G>T	c.(2002-2004)GTG>TTG	p.V668L	ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Missense_Mutation_p.V226L	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	668	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCACTGCACACAGATGCATCA	0.587													A	160047768	C	A	160047768	3	1	116	1	0	0	0	0	1	0	0	0	1117	478	17	5	2431	5	ATP10B	5	160047768	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	19317178	160047768	20867492	57	74731											
F13A1	2162	broad.mit.edu	37	chr6	6167737	6167737	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacggtggacttttgcttgGccagaacatccctggtctca	11	12	1	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr6:6167737G>T	uc003mwv.2	-	13	1985	c.1862C>A	c.(1861-1863)GCC>GAC	p.A621D	F13A1_uc011dib.1_Missense_Mutation_p.A558D	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	621					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CTTTTGCTTGGCCAGAACATC	0.527													T	6167737	G	T	6167737	3	4	116	1	0	0	0	0	1	0	0	0	5340	1203	42	5	348	5	F13A1	6	6167737	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08		6167737	164947330	58	74732											
DDR1	780	broad.mit.edu	37	chr6	30863265	30863265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgggcccccccacacccgCctgggccaaacccaccaaca	7	24	0	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr6:30863265C>T	uc003nrr.2	+	13	1857	c.1598C>T	c.(1597-1599)GCC>GTC	p.A533V	DDR1_uc010jse.2_Intron|DDR1_uc003nrq.2_Intron|DDR1_uc003nrs.2_Missense_Mutation_p.A533V|DDR1_uc003nrt.2_Intron|DDR1_uc011dms.1_Intron|DDR1_uc003nru.2_Intron|DDR1_uc003nrv.2_Missense_Mutation_p.A533V|DDR1_uc003nrw.1_Missense_Mutation_p.P305S|DDR1_uc003nry.1_Intron|DDR1_uc003nrx.1_Intron|DDR1_uc003nrz.1_5'Flank	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	533	Gly/Pro-rich.|Cytoplasmic (Potential).				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	CCCACACCCGCCTGGGCCAAA	0.677													T	30863265	C	T	30863265	3	4	116	1	0	0	0	0	1	0	0	0	4336	739	26	2	1640	2	DDR1	6	30863265	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	24695528	30863265	140251802	59	74733											
HLA-C	3107	broad.mit.edu	37	chr6	31236950	31236950	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacacaggcagctgtctcagGctacagaacacaatagtcat	8	12	2	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr6:31236950G>C	uc003nsy.2	-	8	1104	c.1097C>G	c.(1096-1098)GCC>GGC	p.A366G	HLA-C_uc011dnj.1_Missense_Mutation_p.A338G|HLA-C_uc003nsx.2_Missense_Mutation_p.A245G|HLA-C_uc003nsz.2_Missense_Mutation_p.A372G|HLA-C_uc010jsl.2_Missense_Mutation_p.P365A|HLA-C_uc003nta.2_Missense_Mutation_p.S350C|HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_Intron	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	366	Cytoplasmic (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex					0						GCTGTCTCAGGCTACAGAACA	0.488													C	31236950	G	C	31236950	3	2	116	1	0	0	0	0	1	0	0	0	7197	1217	42	5	7	5	HLA-C	6	31236950	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	373685	31236950	139878117	60	74734											
PBX2	5089	broad.mit.edu	37	chr6	32156075	32156075	+	Frame_Shift_Del	DEL	T	T	-													cgagtggtatatgtgacggaTctgggcaagtttgctgcgat							TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr6:32156074_32156074AT>A	uc003oav.1	-	2	774	c.503_503AT>T	c.(502-504)atcfs	p.I168fs	PBX2_uc003oaw.3_Frame_Shift_Del_p.I168fs	NM_002586	NP_002577	P40425	PBX2_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 2 (PBX2), mRNA.	168							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						TATGTGACGGATCTGGGCAAG	0.592													-	32156075	T	-	32156075	7	5	116	1	0	1	0	1	0	0	0	0	11493	1435	50	0	818	0	PBX2	6	32156075	Frame_Shift_Del	DEL	T	TCGA-BR-A4CS-01A-11D-A24D-08	919125	32156075	138958992	61	74735											
GRM4	2914	broad.mit.edu	37	chr6	34029747	34029747	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcggcggatgatcttgtcGaactcgcctgccttgggctc	14	12	1	1	rs143657941		TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr6:34029747G>A	uc003oir.3	-	3	965	c.795C>T	c.(793-795)TTC>TTT	p.F265F	GRM4_uc011dsn.1_Silent_p.F265F|GRM4_uc010jvh.2_Silent_p.F265F|GRM4_uc010jvi.2_5'UTR|GRM4_uc003oio.2_5'UTR|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.F125F|GRM4_uc003oiq.2_Silent_p.F132F|GRM4_uc011dsm.1_Silent_p.F96F	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	265	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	TGATCTTGTCGAACTCGCCTG	0.627													A	34029747	G	A	34029747	2	1	116	1	0	0	0	0	0	0	0	1	6799	1049	37	1		1	GRM4	6	34029747	Silent	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	1873672	34029747	137085320	62	74736											
TCP11	6954	broad.mit.edu	37	chr6	35086242	35086242	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaccgctgcacaccaagaAccaaacagcatttgagaaac	8	12	0	3			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr6:35086242A>C	uc003okd.2	-	10	1536	c.1355T>G	c.(1354-1356)GTT>GGT	p.V452G	TCP11_uc003ojz.1_Missense_Mutation_p.V377G|TCP11_uc003oka.2_Missense_Mutation_p.V377G|TCP11_uc003okb.2_Missense_Mutation_p.V376G|TCP11_uc003okc.2_Missense_Mutation_p.V376G|TCP11_uc011dsu.1_Missense_Mutation_p.V434G|TCP11_uc011dsv.1_Missense_Mutation_p.V401G|TCP11_uc011dsw.1_Missense_Mutation_p.V406G	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	t-complex 11 isoform 1	439					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(3)|skin(2)	5						CACACCAAGAACCAAACAGCA	0.458													C	35086242	A	C	35086242	3	2	116	1	0	0	0	0	1	0	0	0	15710	43	2	5	199	5	TCP11	6	35086242	Missense_Mutation	SNP	A	TCGA-BR-A4CS-01A-11D-A24D-08	1056495	35086242	136028825	63	74737											
GJB7	375519	broad.mit.edu	37	chr6	87993986	87993986	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggacttgaggttttttTaaatatttttggagacagca	10	4	0	3	rs142594074		TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr6:87993986T>A	uc003plo.2	-	3	991	c.645A>T	c.(643-645)TTA>TTT	p.L215F		NM_198568	NP_940970	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	215	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane					0		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		GAGGTTTTTTTAAATATTTTT	0.418													A	87993986	T	A	87993986	3	1	116	1	0	0	0	0	1	0	0	0	6413	1751	61	5	30	5	GJB7	6	87993986	Missense_Mutation	SNP	T	TCGA-BR-A4CS-01A-11D-A24D-08	52907744	87993986	83121081	64	74738											
SYNE1	23345	broad.mit.edu	37	chr6	152652593	152652593	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagatctgccatgaccctGtctgcgtcctttataagcga	8	13	2	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr6:152652593G>A	uc010kiw.2	-	78	13829	c.13227C>T	c.(13225-13227)GAC>GAT	p.D4409D	SYNE1_uc003qot.3_Silent_p.D4338D|SYNE1_uc003qou.3_Silent_p.D4409D|SYNE1_uc010kiz.2_Silent_p.D164D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4409	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)		CCATGACCCTGTCTGCGTCCT	0.517										HNSCC(10;0.0054)			A	152652593	G	A	152652593	2	1	116	1	0	0	0	0	0	0	0	1	15442	1368	48	4		4	SYNE1	6	152652593	Silent	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	64658607	152652593	18462474	65	74739											
LPA	4018	broad.mit.edu	37	chr6	161027567	161027567	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagttggaggcgcgacggcAgtcccttctgcgtctgagca	14	11	2	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr6:161027567A>G	uc003qtl.2	-	18	2847	c.2727T>C	c.(2725-2727)ACT>ACC	p.T909T		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3417	Kringle 30.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCGCGACGGCAGTCCCTTCTG	0.547													G	161027567	A	G	161027567	2	3	116	1	0	0	0	0	0	0	0	1	8903	175	7	3		3	LPA	6	161027567	Silent	SNP	A	TCGA-BR-A4CS-01A-11D-A24D-08	8374974	161027567	10087500	66	74740											
DNAH11	8701	broad.mit.edu	37	chr7	21939738	21939738	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccacggactcttcatggagGgtaagacaccccaaggggta	12	11	2	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr7:21939738G>T	uc003svc.2	+	82	13355	c.13324G>T	c.(13324-13326)GGC>TGC	p.G4442C		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4442					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CTTCATGGAGGGTAAGACACC	0.483									Kartagener_syndrome				T	21939738	G	T	21939738	3	4	116	1	0	0	0	0	1	0	0	0	4599	1246	43	5	13647	5	DNAH11	7	21939738	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08		21939738	137198925	67	74741											
HOXA13	3209	broad.mit.edu	37	chr7	27238898	27238898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgggaagacccaagggttCgtggcgcgactcgccggggc	17	12	0	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr7:27238898C>T	uc003szb.1	-	1	828	c.799G>A	c.(799-801)GAA>AAA	p.E267K	uc003szc.1_5'Flank	NM_000522	NP_000513	P31271	HXA13_HUMAN	homeobox A13	267					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)	1						CCCAAGGGTTCGTGGCGCGAC	0.677			T	NUP98	AML								T	27238898	C	T	27238898	3	4	116	1	0	0	0	0	1	0	0	0	7291	893	31	1	375	1	HOXA13	7	27238898	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	5299160	27238898	131899765	68	74742											
VPS41	27072	broad.mit.edu	37	chr7	38791835	38791835	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagtaagtttggtcgatcatAttcagcataaagactgatct	8	6	3	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr7:38791835A>T	uc003tgy.2	-	22	1893	c.1867T>A	c.(1867-1869)TAT>AAT	p.Y623N	VPS41_uc003tgz.2_Missense_Mutation_p.Y598N|VPS41_uc010kxn.2_Missense_Mutation_p.Y534N	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	623	Clathrin.				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						GGTCGATCATATTCAGCATAA	0.423													T	38791835	A	T	38791835	3	4	116	1	0	0	0	0	1	0	0	0	17207	449	16	5	729	5	VPS41	7	38791835	Missense_Mutation	SNP	A	TCGA-BR-A4CS-01A-11D-A24D-08	11552937	38791835	120346828	69	74743											
VWC2	375567	broad.mit.edu	37	chr7	49842380	49842380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtcagcgtgtccccagaCggagtgtgtggaccctgtgt	15	10	1	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr7:49842380C>T	uc003tot.1	+	3	1326	c.770C>T	c.(769-771)ACG>ATG	p.T257M		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	257	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space					0						TGTCCCCAGACGGAGTGTGTG	0.572													T	49842380	C	T	49842380	3	4	116	1	0	0	0	0	1	0	0	0	17240	536	19	1	776	1	VWC2	7	49842380	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	11050545	49842380	109296283	70	74744											
CUX1	1523	broad.mit.edu	37	chr7	101559469	101559469	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtccagaaagcggcttatCgaacagagccgggagttcaa	12	10	1	2	rs145317607	byFrequency	TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr7:101559469C>T	uc003uyx.3	+	2	143	c.105C>T	c.(103-105)ATC>ATT	p.I35I	CUX1_uc003uys.3_Silent_p.I46I|CUX1_uc003uyt.2_Silent_p.I46I|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Silent_p.I46I|CUX1_uc003uyv.2_Silent_p.I46I|CUX1_uc003uyu.2_Silent_p.I46I	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	35	Potential.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						AGCGGCTTATCGAACAGAGCC	0.532													T	101559469	C	T	101559469	2	4	116	1	0	0	0	0	0	0	0	1	4064	874	31	1		1	CUX1	7	101559469	Silent	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	51717089	101559469	57579194	71	74745											
GRM8	2918	broad.mit.edu	37	chr7	126542634	126542634	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gactgttccttttcccatgtGatcctaacttgcagccaaaa	6	12	0	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr7:126542634G>C	uc003vlr.2	-	5	1429	c.1118C>G	c.(1117-1119)TCA>TGA	p.S373*	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Nonsense_Mutation_p.S373*|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Nonsense_Mutation_p.S94*	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	373	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTTCCCATGTGATCCTAACTT	0.373										HNSCC(24;0.065)			C	126542634	G	C	126542634	4	2	116	1	0	0	0	0	0	1	0	0	6803	1294	45	5	1682	5	GRM8	7	126542634	Nonsense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	24983165	126542634	32596029	72	74746											
LRRC4	64101	broad.mit.edu	37	chr7	127669591	127669591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacttaagttctgccatcCgaccctcagaaatgttgagg	9	11	2	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr7:127669591C>T	uc003vmk.2	-	2	1240	c.1103G>A	c.(1102-1104)CGG>CAG	p.R368Q	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	368	Extracellular (Potential).|Ig-like.					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		TTCTGCCATCCGACCCTCAGA	0.607													T	127669591	C	T	127669591	3	4	116	1	0	0	0	0	1	0	0	0	8997	652	23	1	862	1	LRRC4	7	127669591	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	1126957	127669591	31469072	73	74747											
MAK16	84549	broad.mit.edu	37	chr8	33356104	33356104	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctatgtggaaatagaatAcgagcaggagacagagcccg	13	8	0	3			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr8:33356104A>G	uc003xjj.2	+	10	900	c.860A>G	c.(859-861)TAC>TGC	p.Y287C	C8orf41_uc010lvu.1_Intron	NM_032509	NP_115898	Q9BXY0	MAK16_HUMAN	MAK16 homolog	287						nucleolus				ovary(1)	1						GAAATAGAATACGAGCAGGAG	0.458													G	33356104	A	G	33356104	3	3	116	1	0	0	0	0	1	0	0	0	9198	391	14	3	898	3	MAK16	8	33356104	Missense_Mutation	SNP	A	TCGA-BR-A4CS-01A-11D-A24D-08		33356104	113007918	74	74748											
MYST3	7994	broad.mit.edu	37	chr8	41790659	41790659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctggggagggggTgggggtggaggctgctgggg	27	5	0	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr8:41790659T>G	uc010lxb.2	-	18	5623	c.5079A>C	c.(5077-5079)CCA>CCC	p.P1693P	MYST3_uc010lxc.2_Silent_p.P1693P|MYST3_uc003xon.3_Silent_p.P1693P	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1693	Gln/Pro-rich.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			ggggagggggtgggggtggag	0.164													G	41790659	T	G	41790659	2	3	116	1	0	0	0	0	0	0	0	1	10104	1683	59	5		5	MYST3	8	41790659	Silent	SNP	T	TCGA-BR-A4CS-01A-11D-A24D-08	8434555	41790659	104573363	75	74749											
SNTG1	54212	broad.mit.edu	37	chr8	51621478	51621478	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtgtgctagaaagtcaTctaatgggactcacaattga	10	7	3	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr8:51621478T>C	uc010lxy.1	+	18	1595	c.1224T>C	c.(1222-1224)CAT>CAC	p.H408H	SNTG1_uc003xqs.1_Silent_p.H408H|SNTG1_uc010lxz.1_Silent_p.H408H|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	408					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TAGAAAGTCATCTAATGGGAC	0.353													C	51621478	T	C	51621478	2	2	116	1	0	0	0	0	0	0	0	1	14874	1432	50	3		3	SNTG1	8	51621478	Silent	SNP	T	TCGA-BR-A4CS-01A-11D-A24D-08	9830819	51621478	94742544	76	74750											
NPBWR1	2831	broad.mit.edu	37	chr8	53853152	53853152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctataccaccctgctgtgcCggctgcatgccatgcggctg	11	15	1	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr8:53853152C>T	uc011ldu.1	+	1	685	c.685C>T	c.(685-687)CGG>TGG	p.R229W		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	229	Cytoplasmic (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CCTGCTGTGCCGGCTGCATGC	0.672													T	53853152	C	T	53853152	3	4	116	1	0	0	0	0	1	0	0	0	10568	643	23	1	687	1	NPBWR1	8	53853152	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	2231674	53853152	92510870	77	74751											
MSC	9242	broad.mit.edu	37	chr8	72755963	72755963	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcgatgtaactggaagccaGccggagcgtgtccagcttgg	15	10	0	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr8:72755963G>C	uc003xyx.1	-	1	769	c.451C>G	c.(451-453)CTG>GTG	p.L151V	uc011lff.1_Intron|uc003xyy.2_5'Flank	NM_005098	NP_005089	O60682	MUSC_HUMAN	musculin	151	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CTGGAAGCCAGCCGGAGCGTG	0.652											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	72755963	G	C	72755963	3	2	116	1	0	0	0	0	1	0	0	0	9868	962	34	5	177	5	MSC	8	72755963	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	18902811	72755963	73608059	78	74752											
ATP6V0D2	245972	broad.mit.edu	37	chr8	87125937	87125937	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggggtttcatttaatttcaGacctgaaaattcatctccag	7	8	4	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr8:87125937G>T	uc003ydp.1	+	2	200	c.131_splice	c.e2-1	p.D44_splice		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding				0						TTTAATTTCAGACCTGAAAAT	0.313													T	87125937	G	T	87125937	5	4	116	1	0	0	0	0	0	0	1	0	1174	956	33	5	136	5	ATP6V0D2	8	87125937	Splice_Site	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	14369974	87125937	59238085	79	74753											
SLC26A7	115111	broad.mit.edu	37	chr8	92364079	92364079	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attttcgtccttatagtcatCtatgcaataggacctttgct	6	9	2	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr8:92364079C>A	uc003yex.2	+	11	1460	c.1182C>A	c.(1180-1182)ATC>ATA	p.I394I	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Silent_p.I394I|SLC26A7_uc003yfa.2_Silent_p.I394I	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	394	Helical; (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTATAGTCATCTATGCAATAG	0.338													A	92364079	C	A	92364079	2	1	116	1	0	0	0	0	0	0	0	1	14522	903	32	5		5	SLC26A7	8	92364079	Silent	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	5238142	92364079	53999943	80	74754											
PKHD1L1	93035	broad.mit.edu	37	chr8	110520009	110520009	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgatacctcaagcagaAtatgaatgggacggaaacag	11	7	2	3			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr8:110520009A>T	uc003yne.2	+	69	11216	c.11112A>T	c.(11110-11112)GAA>GAT	p.E3704D		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3704	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCAAGCAGAATATGAATGGG	0.428										HNSCC(38;0.096)			T	110520009	A	T	110520009	3	4	116	1	0	0	0	0	1	0	0	0	11972	98	4	5	11386	5	PKHD1L1	8	110520009	Missense_Mutation	SNP	A	TCGA-BR-A4CS-01A-11D-A24D-08	18155930	110520009	35844013	81	74755											
PKHD1L1	93035	broad.mit.edu	37	chr8	110535556	110535556	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caatggccttagtggaaataCaacaattccgtttagcagct	8	9	0	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr8:110535556C>G	uc003yne.2	+	76	12529	c.12425C>G	c.(12424-12426)ACA>AGA	p.T4142R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	4142	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTGGAAATACAACAATTCCG	0.418										HNSCC(38;0.096)			G	110535556	C	G	110535556	3	3	116	1	0	0	0	0	1	0	0	0	11972	478	17	5	12727	5	PKHD1L1	8	110535556	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	15547	110535556	35828466	82	74756											
TMEM71	137835	broad.mit.edu	37	chr8	133764099	133764099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttatgttgccatctttgtcGcacaggaagctgtcttcagt	10	9	3	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr8:133764099G>A	uc003ytp.2	-	4	475	c.246C>T	c.(244-246)TGC>TGT	p.C82C	TMEM71_uc003ytn.2_Silent_p.C82C|TMEM71_uc003yto.2_Silent_p.C82C	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	transmembrane protein 71 isoform 1	82						integral to membrane				ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CATCTTTGTCGCACAGGAAGC	0.468													A	133764099	G	A	133764099	2	1	116	1	0	0	0	0	0	0	0	1	16197	1079	38	1		1	TMEM71	8	133764099	Silent	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	23228543	133764099	12599923	83	74757											
SVEP1	79987	broad.mit.edu	37	chr9	113233694	113233694	+	Frame_Shift_Del	DEL	T	T	-													gtctgcagaagggggaagccTtttttgtttctaatgaattg							TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr9:113233694delT	uc010mtz.2	-	16	3285	c.2948delA	c.(2947-2949)AAGfs	p.K983fs	SVEP1_uc010mua.1_Frame_Shift_Del_p.K983fs	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	983					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GGGGGAAGCCTTTTTTGTTTC	0.423													-	113233694	T	-	113233694	7	5	116	1	0	1	0	1	0	0	0	0	15417	1609	56	0	7899	0	SVEP1	9	113233694	Frame_Shift_Del	DEL	T	TCGA-BR-A4CS-01A-11D-A24D-08		113233694	27979737	84	74758											
COL27A1	85301	broad.mit.edu	37	chr9	116982078	116982078	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatgccctccaggggtttcCtggagtctttggggaaagag	14	9	2	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr9:116982078C>A	uc011lxl.1	+	13	2375	c.2375C>A	c.(2374-2376)CCT>CAT	p.P792H	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	792	Collagen-like 3.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						CAGGGGTTTCCTGGAGTCTTT	0.527													A	116982078	C	A	116982078	3	1	116	1	0	0	0	0	1	0	0	0	3685	681	24	5	2425	5	COL27A1	9	116982078	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	3748384	116982078	24231353	85	74759											
TNC	3371	broad.mit.edu	37	chr9	117848440	117848440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttctgcacagtcagggcCggtgaagccgtcctcacaga	13	12	3	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr9:117848440C>T	uc004bjj.3	-	3	1932	c.1570G>A	c.(1570-1572)GGC>AGC	p.G524S	TNC_uc010mvf.2_Missense_Mutation_p.G524S	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	524	EGF-like 12.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CAGTCAGGGCCGGTGAAGCCG	0.597													T	117848440	C	T	117848440	3	4	116	1	0	0	0	0	1	0	0	0	16267	652	23	1	5139	1	TNC	9	117848440	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	866362	117848440	23364991	86	74760											
DAB2IP	153090	broad.mit.edu	37	chr9	124329506	124329506	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaccaagacgactcctaCggtaagacggtgccagcaaa	11	12	0	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr9:124329506C>T	uc004bln.2	+	1	108	c.39C>T	c.(37-39)TAC>TAT	p.Y13Y		NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	Error:Variant_position_missing_in_Q5VWQ8_after_alignment					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2						ACGACTCCTACGGTAAGACGG	0.577													T	124329506	C	T	124329506	2	4	116	1	0	0	0	0	0	0	0	1	4219	550	19	1		1	DAB2IP	9	124329506	Silent	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	6481066	124329506	16883925	87	74761											
PFKFB3	5209	broad.mit.edu	37	chr10	6255678	6255678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acatctccaagaagctgactCgctacctcaactggattggc	8	13	2	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr10:6255678C>T	uc001ije.2	+	2	553	c.169C>T	c.(169-171)CGC>TGC	p.R57C	PFKFB3_uc001ijd.2_Missense_Mutation_p.R37C|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Missense_Mutation_p.R71C|PFKFB3_uc001ijf.2_Missense_Mutation_p.R57C	NM_004566	NP_004557	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,	57	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(2)|central_nervous_system(1)	3						GAAGCTGACTCGCTACCTCAA	0.592													T	6255678	C	T	6255678	3	4	116	1	0	0	0	0	1	0	0	0	11762	884	31	1	195	1	PFKFB3	10	6255678	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08		6255678	129279069	88	74762											
ENKUR	219670	broad.mit.edu	37	chr10	25273693	25273693	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatataaataatcttgtgctTttcaattatgccaatgtcgt	5	6	2	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr10:25273693T>A	uc001isg.1	-	5	901	c.736A>T	c.(736-738)AAG>TAG	p.K246*	ENKUR_uc001ish.1_Nonsense_Mutation_p.K184*	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	enkurin	246						cilium|flagellum	calmodulin binding|SH3 domain binding				0						ATCTTGTGCTTTTCAATTATG	0.333													A	25273693	T	A	25273693	4	1	116	1	0	0	0	0	0	1	0	0	5120	1850	64	5	42	5	ENKUR	10	25273693	Nonsense_Mutation	SNP	T	TCGA-BR-A4CS-01A-11D-A24D-08	19018015	25273693	110261054	89	74763											
HKDC1	80201	broad.mit.edu	37	chr10	71003047	71003047	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggggccttcggggacgaCggggccctggaggacattcg	20	10	0	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr10:71003047C>T	uc001jpf.3	+	7	934	c.801C>T	c.(799-801)GAC>GAT	p.D267D	HKDC1_uc010qje.1_Silent_p.D130D	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	267					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5						TCGGGGACGACGGGGCCCTGG	0.587													T	71003047	C	T	71003047	2	4	116	1	0	0	0	0	0	0	0	1	7193	535	19	1		1	HKDC1	10	71003047	Silent	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	45729354	71003047	64531700	90	74764											
MKI67	4288	broad.mit.edu	37	chr10	129921418	129921418	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acaggaagctggatacggatGtcacattcaataccccttca	8	11	3	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr10:129921418G>C	uc001lke.2	-	3	303	c.108C>G	c.(106-108)GAC>GAG	p.D36E	MKI67_uc001lkf.2_Missense_Mutation_p.D36E|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	36	FHA.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGATACGGATGTCACATTCAA	0.353													C	129921418	G	C	129921418	3	2	116	1	0	0	0	0	1	0	0	0	9598	1368	48	5	9714	5	MKI67	10	129921418	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	58918371	129921418	5613329	91	74765											
MUC5B	727897	broad.mit.edu	37	chr11	1274131	1274131	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccaaagcctgtggccaaCgtcacctgcgtgaacaagca	10	14	1	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:1274131C>T	uc009ycr.1	+	54	16230	c.16104C>T	c.(16102-16104)AAC>AAT	p.N5368N	MUC5B_uc001ltb.2_Silent_p.N5049N	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	5046					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGTGGCCAACGTCACCTGCG	0.627													T	1274131	C	T	1274131	2	4	116	1	0	0	0	0	0	0	0	1	9979	535	19	1		1	MUC5B	11	1274131	Silent	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08		1274131	133732385	92	74766											
FAM160A2	84067	broad.mit.edu	37	chr11	6232745	6232745	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atggaagaaagttaaggattGaggggcccacagcctgagat	14	6	0	3			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:6232745G>A	uc001mcl.3	-	12	3269	c.2910C>T	c.(2908-2910)CTC>CTT	p.L970L	FAM160A2_uc001mck.3_Silent_p.L984L	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	970					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						GTTAAGGATTGAGGGGCCCAC	0.567													A	6232745	G	A	6232745	2	1	116	1	0	0	0	0	0	0	0	1	5469	1277	45	4		4	FAM160A2	11	6232745	Silent	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	4958614	6232745	128773771	93	74767											
PRKCDBP	112464	broad.mit.edu	37	chr11	6341682	6341682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgcctcgggcacaggccCccgctccaacgcactctccc	10	22	1	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:6341682C>T	uc001mcu.1	-	1	59	c.25G>A	c.(25-27)GGG>AGG	p.G9R		NM_145040	NP_659477	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	9											0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCACAGGCCCCCGCTCCAAC	0.701													T	6341682	C	T	6341682	3	4	116	1	0	0	0	0	1	0	0	0	12510	623	22	4	768	4	PRKCDBP	11	6341682	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	108937	6341682	128664834	94	74768											
PDE3B	5140	broad.mit.edu	37	chr11	14889193	14889193	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgatgctgctggtttgctaCcaggtcagtggttagaagca	13	7	1	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:14889193C>A	uc001mln.2	+	15	3381	c.3028C>A	c.(3028-3030)CCA>ACA	p.P1010T	PDE3B_uc010rcr.1_Missense_Mutation_p.P959T	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	1010	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						TGGTTTGCTACCAGGTCAGTG	0.418													A	14889193	C	A	14889193	3	1	116	1	0	0	0	0	1	0	0	0	11638	507	18	5	3086	5	PDE3B	11	14889193	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	8547511	14889193	120117323	95	74769											
UBXN1	51035	broad.mit.edu	37	chr11	62445472	62445472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctcatcttcctgtagccGctgtcgtgctgctgacaact	8	14	2	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:62445472G>A	uc001nul.1	-	5	541	c.409C>T	c.(409-411)CGG>TGG	p.R137W	UBXN1_uc001nuj.2_Missense_Mutation_p.R137W|UBXN1_uc001num.1_Missense_Mutation_p.R137W|UBXN1_uc001nuk.2_Missense_Mutation_p.R102W|UBXN1_uc010rme.1_Missense_Mutation_p.R137W|UBXN1_uc010rmf.1_3'UTR	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	UBX domain protein 1	137	Potential.|Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding				0						TCCTGTAGCCGCTGTCGTGCT	0.607													A	62445472	G	A	62445472	3	1	116	1	0	0	0	0	1	0	0	0	16908	1086	38	1	545	1	UBXN1	11	62445472	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	47556279	62445472	72561044	96	74770											
FERMT3	83706	broad.mit.edu	37	chr11	63978840	63978840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgctgagccggccccagcCgccacccgaccccctcctgc	9	23	0	1	rs78534353	byFrequency	TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:63978840C>T	uc001nyl.2	+	5	757	c.608C>T	c.(607-609)CCG>CTG	p.P203L	FERMT3_uc001nym.2_Missense_Mutation_p.P203L	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	fermitin family homolog 3 long form	203					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			ovary(1)	1						CGGCCCCAGCCGCCACCCGAC	0.692													T	63978840	C	T	63978840	3	4	116	1	0	0	0	0	1	0	0	0	5819	652	23	1	622	1	FERMT3	11	63978840	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	1533368	63978840	71027676	97	74771											
CDC42BPG	55561	broad.mit.edu	37	chr11	64597428	64597428	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctctatgttctccagctccGccagggcaaagagacgcacg	10	15	2	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:64597428G>T	uc001obs.3	-	30	3482	c.3482C>A	c.(3481-3483)GCG>GAG	p.A1161E		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1161	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						CTCCAGCTCCGCCAGGGCAAA	0.687													T	64597428	G	T	64597428	3	4	116	1	0	0	0	0	1	0	0	0	3074	1087	38	5	1205	5	CDC42BPG	11	64597428	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	618588	64597428	70409088	98	74772											
PANX1	24145	broad.mit.edu	37	chr11	93913992	93913992	+	Missense_Mutation	SNP	G	G	C													tgaaactaaagcaaataatgGagagaagaatgcccgacaga							TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:93913992G>C	uc001per.2	+	5	1623	c.1238G>C	c.(1237-1239)GGA>GCA	p.G413A	PANX1_uc001peq.2_Missense_Mutation_p.G409A	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	pannexin 1	413	Cytoplasmic (Potential).				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCAAATAATGGAGAGAAGAAT	0.348													C	93913992	G	C	93913992	3	2	116	1	0	0	0	0	1	0	0	0	11420	1174	41	5	1256	5	PANX1	11	93913992	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	29316564	93913992	41092524	99	74773	335	2									
PANX1	24145	broad.mit.edu	37	chr11	93913996	93913996	+	Silent	SNP	G	G	A													actaaagcaaataatggagaGaagaatgcccgacagagact							TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:93913996G>A	uc001per.2	+	5	1627	c.1242G>A	c.(1240-1242)GAG>GAA	p.E414E	PANX1_uc001peq.2_Silent_p.E410E	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	pannexin 1	414	Cytoplasmic (Potential).				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATAATGGAGAGAAGAATGCCC	0.348													A	93913996	G	A	93913996	2	1	116	1	0	0	0	0	0	0	0	1	11420	933	33	4		4	PANX1	11	93913996	Silent	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	4	93913996	41092520	100	74774	335	2									
PANX1	24145	broad.mit.edu	37	chr11	93914021	93914021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgcccgacagagacttctgGattcttcttgctgatgattt	9	9	3	3			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:93914021G>A	uc001per.2	+	5	1652	c.1267G>A	c.(1267-1269)GAT>AAT	p.D423N	PANX1_uc001peq.2_Missense_Mutation_p.D419N	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	pannexin 1	423	Cytoplasmic (Potential).				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAGACTTCTGGATTCTTCTTG	0.378													A	93914021	G	A	93914021	3	1	116	1	0	0	0	0	1	0	0	0	11420	1174	41	4	1285	4	PANX1	11	93914021	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	25	93914021	41092495	101	74775											
CEP164	22897	broad.mit.edu	37	chr11	117279709	117279710	+	Frame_Shift_Ins	INS	-	-	C													gaaagttctgaatctttttcINScccgcctcaccgtgagtggt							TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:117279708_117279709T>TC	uc001prc.3	+	28	3859_3860	c.3712_3713T>TC	c.(3712-3714)tccfs	p.S1238fs	CEP164_uc001prb.3_Frame_Shift_Ins_p.S1241fs|CEP164_uc001prf.3_Intron|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Frame_Shift_Ins_p.S671fs	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	1238					DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TGAATCTTTTTCCCCGCCTCAC	0.569													C	117279710	-	C	117279709	7	5	116	1	0	1	1	0	0	0	0	0	3249	855	30	0	3819	0	CEP164	11	117279709	Frame_Shift_Ins	INS	-	TCGA-BR-A4CS-01A-11D-A24D-08	23365688	117279709	17726807	102	74776											
MLL	4297	broad.mit.edu	37	chr11	118375821	118375821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgtccagaccactccaCcccacctgaagccagccact	6	20	0	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:118375821C>T	uc001pta.2	+	27	9228	c.9205C>T	c.(9205-9207)CCC>TCC	p.P3069S	MLL_uc001ptb.2_Missense_Mutation_p.P3072S	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3069					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GACCACTCCACCCCACCTGAA	0.478			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								T	118375821	C	T	118375821	3	4	116	1	0	0	0	0	1	0	0	0	9620	507	18	4	9311	4	MLL	11	118375821	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	1096112	118375821	16630695	103	74777											
USP2	9099	broad.mit.edu	37	chr11	119243994	119243994	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagggaggaggggccaTaggtacggggacgggtgagg	23	6	0	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:119243994T>C	uc001pwm.3	-	2	492	c.197A>G	c.(196-198)TAT>TGT	p.Y66C	USP2_uc001pwn.3_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	66	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GGAGGGGCCATAGGTACGGGG	0.637													C	119243994	T	C	119243994	3	2	116	1	0	0	0	0	1	0	0	0	17048	1406	49	3	1819	3	USP2	11	119243994	Missense_Mutation	SNP	T	TCGA-BR-A4CS-01A-11D-A24D-08	868173	119243994	15762522	104	74778											
ERC1	23085	broad.mit.edu	37	chr12	1553865	1553865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcttcctataacttggaCgatgaccaggcggcttggga	12	11	0	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:1553865C>T	uc001qjb.2	+	18	3403	c.3162C>T	c.(3160-3162)GAC>GAT	p.D1054D	ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Silent_p.D1026D|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Silent_p.D1054D|ERC1_uc010sdv.1_3'UTR|ERC1_uc001qje.2_RNA	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	1054	FIP-RBD.				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(2)|breast(1)	5	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ATAACTTGGACGATGACCAGG	0.522													T	1553865	C	T	1553865	2	4	116	1	0	0	0	0	0	0	0	1	5210	535	19	1		1	ERC1	12	1553865	Silent	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08		1553865	132298030	105	74779											
KCNA5	3741	broad.mit.edu	37	chr12	5153796	5153796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttcgaccccctgaggaaCgagtacttcttcgaccgcaa	8	14	1	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:5153796C>T	uc001qni.2	+	1	712	c.483C>T	c.(481-483)AAC>AAT	p.N161N		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	161						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						CCCTGAGGAACGAGTACTTCT	0.667													T	5153796	C	T	5153796	2	4	116	1	0	0	0	0	0	0	0	1	8006	535	19	1		1	KCNA5	12	5153796	Silent	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	3599931	5153796	128698099	106	74780											
CLEC12A	160364	broad.mit.edu	37	chr12	10134661	10134661	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatcatatgactattggctgGgattatctcctgaagaagat	10	6	2	4			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:10134661G>C	uc001qwr.3	+	5	762	c.574G>C	c.(574-576)GGA>CGA	p.G192R	CLEC12A_uc001qwq.2_Missense_Mutation_p.G202R|CLEC12A_uc001qws.3_Missense_Mutation_p.G159R|CLEC12A_uc001qwt.2_Missense_Mutation_p.G121R	NM_138337	NP_612210	Q5QGZ9	CL12A_HUMAN	myeloid inhibitory C-type lectin-like receptor	192	Extracellular (Potential).|C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			skin(1)	1						CTATTGGCTGGGATTATCTCC	0.348													C	10134661	G	C	10134661	3	2	116	1	0	0	0	0	1	0	0	0	3497	1233	43	5	592	5	CLEC12A	12	10134661	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	4980865	10134661	123717234	107	74781											
SLCO1B1	10599	broad.mit.edu	37	chr12	21355482	21355482	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaggaggatatatcattaAaaaattcaaactgaacaccg	6	6	2	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:21355482A>C	uc001req.3	+	10	1297	c.1193A>C	c.(1192-1194)AAA>ACA	p.K398T		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	398	Cytoplasmic (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TATATCATTAAAAAATTCAAA	0.294													C	21355482	A	C	21355482	3	2	116	1	0	0	0	0	1	0	0	0	14723	14	1	5	1227	5	SLCO1B1	12	21355482	Missense_Mutation	SNP	A	TCGA-BR-A4CS-01A-11D-A24D-08	11220821	21355482	112496413	108	74782											
RECQL	5965	broad.mit.edu	37	chr12	21623974	21623974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattgttcagaagattagCtttaggtcctattttcaaat	6	7	3	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:21623974C>T	uc001rex.2	-	15	2074	c.1726G>A	c.(1726-1728)GCT>ACT	p.A576T	RECQL_uc001rey.2_Missense_Mutation_p.A576T|PYROXD1_uc001rew.2_3'UTR|PYROXD1_uc009ziq.2_3'UTR|PYROXD1_uc009zir.2_3'UTR	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	576					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2						AGAAGATTAGCTTTAGGTCCT	0.353								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					T	21623974	C	T	21623974	3	4	116	1	0	0	0	0	1	0	0	0	13201	797	28	2	231	2	RECQL	12	21623974	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	268492	21623974	112227921	109	74783											
ABCD2	225	broad.mit.edu	37	chr12	39994380	39994380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatatacctacctttgtgGaatataaaacatatgttgag	7	5	0	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:39994380G>A	uc001rmb.2	-	6	2065	c.1639C>T	c.(1639-1641)CCA>TCA	p.P547S		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D, member 2	547	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						TACCTTTGTGGAATATAAAAC	0.353													A	39994380	G	A	39994380	3	1	116	1	0	0	0	0	1	0	0	0	61	1174	41	4	603	4	ABCD2	12	39994380	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	18370406	39994380	93857515	110	74784											
LRRK2	120892	broad.mit.edu	37	chr12	40692268	40692268	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaacctcactgatgtggtagAgaaactggagcagctcattt	11	8	2	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:40692268A>T	uc001rmg.3	+	24	3441	c.3320A>T	c.(3319-3321)GAG>GTG	p.E1107V	LRRK2_uc001rmh.1_Missense_Mutation_p.E729V|LRRK2_uc009zjw.2_5'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1107					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GATGTGGTAGAGAAACTGGAG	0.368													T	40692268	A	T	40692268	3	4	116	1	0	0	0	0	1	0	0	0	9033	304	11	5	3414	5	LRRK2	12	40692268	Missense_Mutation	SNP	A	TCGA-BR-A4CS-01A-11D-A24D-08	697888	40692268	93159627	111	74785											
SLC39A5	283375	broad.mit.edu	37	chr12	56630725	56630725	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggccccaggtgctgccttCtctgatggcttctccagcgg	12	15	2	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:56630725C>T	uc010sqj.1	+	11	1475	c.1218C>T	c.(1216-1218)TTC>TTT	p.F406F	SLC39A5_uc010sqk.1_Silent_p.F406F	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	406	Cytoplasmic (Potential).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2						GTGCTGCCTTCTCTGATGGCT	0.602													T	56630725	C	T	56630725	2	4	116	1	0	0	0	0	0	0	0	1	14621	912	32	4		4	SLC39A5	12	56630725	Silent	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	15938457	56630725	77221170	112	74786											
CNOT2	4848	broad.mit.edu	37	chr12	70732502	70732502	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaatttggaatgattggcCtgttaacatttatcagggca	9	7	1	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:70732502C>T	uc001svv.2	+	11	1657	c.1078C>T	c.(1078-1080)CTG>TTG	p.L360L	CNOT2_uc009zro.2_Silent_p.L360L|CNOT2_uc009zrp.2_Silent_p.L340L|CNOT2_uc009zrq.2_Silent_p.L360L|CNOT2_uc001svw.1_Silent_p.L100L	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	360					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity				0	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			AATGATTGGCCTGTTAACATT	0.423													T	70732502	C	T	70732502	2	4	116	1	0	0	0	0	0	0	0	1	3619	680	24	4		4	CNOT2	12	70732502	Silent	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	14101777	70732502	63119393	113	74787											
FAM71C	196472	broad.mit.edu	37	chr12	100043097	100043097	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagttttgtgaagagaaggAgcaattcagaatcagtagac	12	4	2	4			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:100043097A>C	uc001tgn.2	+	2	1069	c.647A>C	c.(646-648)GAG>GCG	p.E216A	ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN	hypothetical protein LOC196472	216											0				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		GAAGAGAAGGAGCAATTCAGA	0.393													C	100043097	A	C	100043097	3	2	116	1	0	0	0	0	1	0	0	0	5609	304	11	5	653	5	FAM71C	12	100043097	Missense_Mutation	SNP	A	TCGA-BR-A4CS-01A-11D-A24D-08	29310595	100043097	33808798	114	74788											
MYO1H	283446	broad.mit.edu	37	chr12	109877497	109877497	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacaacgaggaatttatcGtgtttgtgcggaagaattac	11	6	0	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:109877497G>A	uc010sxo.1	+	1	156	c.-119G>A	c.(-121--117)TCGTG>TCATG		MYO1H_uc010sxn.1_Missense_Mutation_p.V770M			Q8N1T3	MYO1H_HUMAN	SubName: Full=cDNA FLJ54829, moderately similar to Myosin Ic; SubName: Full=Myosin IH, isoform CRA_a;							myosin complex	motor activity				0						GGAATTTATCGTGTTTGTGCG	0.428													A	109877497	G	A	109877497	1	1	116	1	0	0	0	0	0	0	0	0	10075	1145	40	1		1	MYO1H	12	109877497	Translation_Start_Site	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	9834400	109877497	23974398	115	74789											
MED13L	23389	broad.mit.edu	37	chr12	116453041	116453041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccctccatcttgggaaaCcaggtgactggcagcactct	9	14	2	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:116453041C>T	uc001tvw.2	-	8	1103	c.1048G>A	c.(1048-1050)GTT>ATT	p.V350I		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	350					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCTTGGGAAACCAGGTGACTG	0.448													T	116453041	C	T	116453041	3	4	116	1	0	0	0	0	1	0	0	0	9431	507	18	4	5680	4	MED13L	12	116453041	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	6575544	116453041	17398854	116	74790											
DNAH10	196385	broad.mit.edu	37	chr12	124343737	124343737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcgagaccatgttaacccGccacacgacgatggtggtgg	13	11	0	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:124343737G>A	uc001uft.3	+	37	6342	c.6317G>A	c.(6316-6318)CGC>CAC	p.R2106H		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2106	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATGTTAACCCGCCACACGACG	0.502													A	124343737	G	A	124343737	3	1	116	1	0	0	0	0	1	0	0	0	4598	1087	38	1	6463	1	DNAH10	12	124343737	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	7890696	124343737	9508158	117	74791											
GLT1D1	144423	broad.mit.edu	37	chr12	129442113	129442113	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggatttagaagtaccggtAttggccaggaacatccccgg	12	9	0	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:129442113A>G	uc010tbh.1	+	12	828	c.819A>G	c.(817-819)GTA>GTG	p.V273V	GLT1D1_uc001uhx.1_Silent_p.V188V|GLT1D1_uc001uhy.1_RNA	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	268					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		AAGTACCGGTATTGGCCAGGA	0.527													G	129442113	A	G	129442113	2	3	116	1	0	0	0	0	0	0	0	1	6465	436	16	3		3	GLT1D1	12	129442113	Silent	SNP	A	TCGA-BR-A4CS-01A-11D-A24D-08	5098376	129442113	4409782	118	74792											
STX2	2054	broad.mit.edu	37	chr12	131283094	131283094	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttgccttgctctgatatttGatagctttttttgtttcttc	6	8	2	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:131283094G>C	uc001uio.2	-	9	929	c.762C>G	c.(760-762)ATC>ATG	p.I254M	STX2_uc001uip.2_Missense_Mutation_p.I254M|STX2_uc010tbj.1_Missense_Mutation_p.I254M	NM_194356	NP_919337	P32856	STX2_HUMAN	syntaxin 2 isoform 2	254	Cytoplasmic (Potential).				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		TCTGATATTTGATAGCTTTTT	0.348													C	131283094	G	C	131283094	3	2	116	1	0	0	0	0	1	0	0	0	15344	1280	45	5	194	5	STX2	12	131283094	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	1840981	131283094	2568801	119	74793											
NBEA	26960	broad.mit.edu	37	chr13	36006473	36006473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcgaaggagacgatttgttCgcaatgcatttggctccact	11	9	0	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr13:36006473C>T	uc001uvb.2	+	39	6453	c.6247C>T	c.(6247-6249)CGC>TGC	p.R2083C	NBEA_uc010abi.2_Missense_Mutation_p.R739C	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2083						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACGATTTGTTCGCAATGCATT	0.408													T	36006473	C	T	36006473	3	4	116	1	0	0	0	0	1	0	0	0	10187	884	31	1	6401	1	NBEA	13	36006473	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08		36006473	79163405	120	74794											
FREM2	341640	broad.mit.edu	37	chr13	39262682	39262682	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctaccagcccccttctgaaGactctgaccaggagcgcctc	8	18	2	3			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr13:39262682G>A	uc001uwv.2	+	1	1510	c.1201G>A	c.(1201-1203)GAC>AAC	p.D401N		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	401	CSPG 1.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCCTTCTGAAGACTCTGACCA	0.552													A	39262682	G	A	39262682	3	1	116	1	0	0	0	0	1	0	0	0	6045	942	33	4	1203	4	FREM2	13	39262682	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	3256209	39262682	75907196	121	74795											
SALL2	6297	broad.mit.edu	37	chr14	21992064	21992064	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgccacagctccttgccggtCaatcttttctaccagttgct	7	15	3	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr14:21992064C>A	uc001wbe.2	-	2	2080	c.1798G>T	c.(1798-1800)GAC>TAC	p.D600Y	SALL2_uc010tly.1_Missense_Mutation_p.D598Y|SALL2_uc010tlz.1_Missense_Mutation_p.D463Y|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.D465Y|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	sal-like 2	600							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|large_intestine(1)	3	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTTGCCGGTCAATCTTTTCT	0.592													A	21992064	C	A	21992064	3	1	116	1	0	0	0	0	1	0	0	0	13811	826	29	5	1229	5	SALL2	14	21992064	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08		21992064	85357476	122	74796											
EFS	10278	broad.mit.edu	37	chr14	23828664	23828664	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccataaccaggcaggcggggTgggggtgggggcagaggccg	22	9	0	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr14:23828664T>G	uc001wjo.2	-	4	1631	c.1023A>C	c.(1021-1023)CCA>CCC	p.P341P	EFS_uc001wjp.2_Silent_p.P248P|EFS_uc010tnm.1_Silent_p.P172P	NM_005864	NP_005855	O43281	EFS_HUMAN	embryonal Fyn-associated substrate isoform 1	341	SH3-binding (Potential).|Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			large_intestine(1)	1	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GCAGGCGGGGTGGGGGTGGGG	0.697													G	23828664	T	G	23828664	2	3	116	1	0	0	0	0	0	0	0	1	4959	1683	59	5		5	EFS	14	23828664	Silent	SNP	T	TCGA-BR-A4CS-01A-11D-A24D-08	1836600	23828664	83520876	123	74797											
FAM179B	23116	broad.mit.edu	37	chr14	45497516	45497516	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgagacatacaggaactgaGaaaatggcatctgaaagtaa	10	5	1	3			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr14:45497516G>T	uc001wvv.2	+	10	3851	c.3642G>T	c.(3640-3642)GAG>GAT	p.E1214D	FAM179B_uc001wvw.2_Missense_Mutation_p.E1214D|FAM179B_uc010anc.2_RNA	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	1214							binding			skin(2)|upper_aerodigestive_tract(1)	3						CAGGAACTGAGAAAATGGCAT	0.323													T	45497516	G	T	45497516	3	4	116	1	0	0	0	0	1	0	0	0	5506	933	33	5	3680	5	FAM179B	14	45497516	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	21668852	45497516	61852024	124	74798											
PLEKHG3	26030	broad.mit.edu	37	chr14	65208577	65208577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacaggtgggctcccggcCgacttcgtgggccctgtttg	16	12	0	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr14:65208577C>T	uc001xho.1	+	16	2611	c.2342C>T	c.(2341-2343)CCG>CTG	p.P781L	PLEKHG3_uc001xhn.1_Missense_Mutation_p.P725L|PLEKHG3_uc001xhp.2_Missense_Mutation_p.P902L|PLEKHG3_uc010aqh.1_Missense_Mutation_p.P323L|PLEKHG3_uc001xhq.1_Missense_Mutation_p.P286L	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	781					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGCTCCCGGCCGACTTCGTGG	0.597													T	65208577	C	T	65208577	3	4	116	1	0	0	0	0	1	0	0	0	12070	652	23	1	2224	1	PLEKHG3	14	65208577	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	19711061	65208577	42140963	125	74799											
SERPINA9	327657	broad.mit.edu	37	chr14	94931130	94931130	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggatgcccatcttcgggaGgatggtttccagattgtagg	14	7	1	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr14:94931130G>T	uc001ydf.2	-	4	1179	c.1018C>A	c.(1018-1020)CTC>ATC	p.L340I	SERPINA9_uc001yde.2_Missense_Mutation_p.L240I|SERPINA9_uc010avc.2_Missense_Mutation_p.L191I|SERPINA9_uc001ydg.2_Missense_Mutation_p.L304I|SERPINA9_uc001ydh.1_Missense_Mutation_p.L340I|SERPINA9_uc001ydi.1_Missense_Mutation_p.L304I	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	serine (or cysteine) proteinase inhibitor, clade	322					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			lung(1)|central_nervous_system(1)	2		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		ATCTTCGGGAGGATGGTTTCC	0.438													T	94931130	G	T	94931130	3	4	116	1	0	0	0	0	1	0	0	0	14095	1000	35	5	297	5	SERPINA9	14	94931130	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	29722553	94931130	12418410	126	74800											
SERINC4	619189	broad.mit.edu	37	chr15	44089096	44089096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcagatacatgatatagCagctgatgacagaagcttgt	10	6	1	5			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr15:44089096C>T	uc010bds.1	-	4	623	c.155G>A	c.(154-156)TGC>TAC	p.C52Y	ELL3_uc001zsx.1_5'UTR|C15orf63_uc001ztb.2_Intron|SERINC4_uc001ztc.1_RNA|SERINC4_uc001ztd.1_Intron|SERINC4_uc001zte.1_Missense_Mutation_p.C52Y	NM_001033517	NP_001028689	A6NH21	SERC4_HUMAN	serine incorporator 4	296	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane					0		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		CATGATATAGCAGCTGATGAC	0.488													T	44089096	C	T	44089096	3	4	116	1	0	0	0	0	1	0	0	0	14082	710	25	2	693	2	SERINC4	15	44089096	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08		44089096	58442296	127	74801											
CYP19A1	1588	broad.mit.edu	37	chr15	51503185	51503185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatggctttcatcatcacCatggcgatgtactttcctgc	9	11	3	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr15:51503185C>T	uc001zyz.3	-	11	1583	c.1332G>A	c.(1330-1332)ATG>ATA	p.M444I	CYP19A1_uc001zza.3_Missense_Mutation_p.M444I	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	444					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TCATCATCACCATGGCGATGT	0.458													T	51503185	C	T	51503185	3	4	116	1	0	0	0	0	1	0	0	0	4148	594	21	4	183	4	CYP19A1	15	51503185	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	7414089	51503185	51028207	128	74802											
PARP16	54956	broad.mit.edu	37	chr15	65553347	65553347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgattctcgctcgtctgcGatctatctccttggaatctg	8	11	5	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr15:65553347G>A	uc002aoo.2	-	5	963	c.709C>T	c.(709-711)CGC>TGC	p.R237C	PARP16_uc002aop.2_Missense_Mutation_p.R122C|PARP16_uc002aoq.2_Missense_Mutation_p.R237C	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	237	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			lung(2)	2						GCTCGTCTGCGATCTATCTCC	0.453													A	65553347	G	A	65553347	3	1	116	1	0	0	0	0	1	0	0	0	11460	1058	37	1	270	1	PARP16	15	65553347	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	14050162	65553347	36978045	129	74803											
LARP6	55323	broad.mit.edu	37	chr15	71128781	71128781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgatcaactcctcatcCgggggcttccactcctgctc	7	16	3	1	rs150115251		TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr15:71128781C>T	uc002ass.2	-	2	335	c.264G>A	c.(262-264)CCG>CCA	p.P88P		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	88	HTH La-type RNA-binding.				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0						ACTCCTCATCCGGGGGCTTCC	0.493													T	71128781	C	T	71128781	2	4	116	1	0	0	0	0	0	0	0	1	8632	639	23	1		1	LARP6	15	71128781	Silent	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	5575434	71128781	31402611	130	74804											
PARP6	56965	broad.mit.edu	37	chr15	72551962	72551962	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgattacctgaacgaggaatCcatactccagagtgggaatg	11	8	0	3			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr15:72551962C>G	uc002auc.2	-	10	1256	c.797G>C	c.(796-798)GGA>GCA	p.G266A	PARP6_uc002aua.2_Missense_Mutation_p.G111A|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.G266A	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	266							NAD+ ADP-ribosyltransferase activity				0						AACGAGGAATCCATACTCCAG	0.498													G	72551962	C	G	72551962	3	3	116	1	0	0	0	0	1	0	0	0	11464	855	30	5	1151	5	PARP6	15	72551962	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	1423181	72551962	29979430	131	74805											
PML	5371	broad.mit.edu	37	chr15	74317252	74317252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagcactcccagggaccCtattgacgttgacctggtga	11	13	0	3			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr15:74317252C>T	uc002awv.2	+	4	1378	c.1238C>T	c.(1237-1239)CCT>CTT	p.P413L	PML_uc002awm.2_Missense_Mutation_p.P413L|PML_uc002awl.2_Missense_Mutation_p.P413L|PML_uc002awj.1_Missense_Mutation_p.P413L|PML_uc002awk.2_Missense_Mutation_p.P413L|PML_uc002awn.2_Missense_Mutation_p.P413L|PML_uc002awo.2_Missense_Mutation_p.P413L|PML_uc002awp.2_Missense_Mutation_p.P413L|PML_uc002awq.2_Missense_Mutation_p.P413L|PML_uc002awr.2_Missense_Mutation_p.P413L|PML_uc002aws.2_Missense_Mutation_p.P413L|PML_uc002awt.2_Missense_Mutation_p.P413L|PML_uc002awu.2_Missense_Mutation_p.P413L|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.P328L|PML_uc002awx.2_Missense_Mutation_p.P171L|PML_uc002awy.2_5'UTR	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	413					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						CCCAGGGACCCTATTGACGTT	0.577			T	RARA|PAX5	APL|ALL								T	74317252	C	T	74317252	3	4	116	1	0	0	0	0	1	0	0	0	12135	681	24	4	1252	4	PML	15	74317252	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	1765290	74317252	28214140	132	74806											
CSPG4	1464	broad.mit.edu	37	chr15	75981657	75981657	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccctcacaggcagagtcCgggtcataggcctggaaaac	13	12	2	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr15:75981657C>T	uc002baw.2	-	3	1842	c.1749G>A	c.(1747-1749)CCG>CCA	p.P583P		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	583	Extracellular (Potential).|CSPG 2.|Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						AGGCAGAGTCCGGGTCATAGG	0.642													T	75981657	C	T	75981657	2	4	116	1	0	0	0	0	0	0	0	1	3960	639	23	1		1	CSPG4	15	75981657	Silent	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	1664405	75981657	26549735	133	74807											
PCSK6	5046	broad.mit.edu	37	chr15	101938652	101938652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcttagccagtcggccgGgcccgtccaccgtcttgccg	12	18	1	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr15:101938652G>A	uc002bwy.2	-	8	1267	c.953C>T	c.(952-954)CCC>CTC	p.P318L	PCSK6_uc010bpd.2_Missense_Mutation_p.P188L|PCSK6_uc010bpe.2_Missense_Mutation_p.P318L|PCSK6_uc002bxa.2_Missense_Mutation_p.P318L|PCSK6_uc002bxb.2_Missense_Mutation_p.P318L|PCSK6_uc002bxc.1_Missense_Mutation_p.P318L|PCSK6_uc002bxd.1_Missense_Mutation_p.P318L|PCSK6_uc002bxe.2_Missense_Mutation_p.P318L|PCSK6_uc002bxg.1_Missense_Mutation_p.P318L	NM_002570	NP_002561	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	318	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			pancreas(2)	2	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGTCGGCCGGGCCCGTCCAC	0.577													A	101938652	G	A	101938652	3	1	116	1	0	0	0	0	1	0	0	0	11604	1232	43	4	2499	4	PCSK6	15	101938652	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	25956995	101938652	592740	134	74808											
CLUAP1	23059	broad.mit.edu	37	chr16	3586166	3586166	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatggaagatgatgatgaCgaggatgacgatttggaaga	15	3	0	6			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr16:3586166C>T	uc002cvk.1	+	12	1242	c.1137C>T	c.(1135-1137)GAC>GAT	p.D379D	CLUAP1_uc002cvj.1_3'UTR|CLUAP1_uc002cvl.1_Silent_p.D398D|CLUAP1_uc002cvm.1_Silent_p.D213D|uc002cvn.1_5'Flank	NM_015041	NP_055856	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1 isoform 1	379	Asp-rich.					nucleus	protein binding			ovary(1)|breast(1)|pancreas(1)	3						ATGATGATGACGAGGATGACG	0.483													T	3586166	C	T	3586166	2	4	116	1	0	0	0	0	0	0	0	1	3569	535	19	1		1	CLUAP1	16	3586166	Silent	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08		3586166	86768587	135	74809											
SULT1A1	6817	broad.mit.edu	37	chr16	28619682	28619682	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcttcaggagtcgtgggGccggtgtgtctttcagagtc	16	8	4	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr16:28619682G>C	uc002dqi.2	-	3	775	c.302C>G	c.(301-303)GCC>GGC	p.A101G	uc010vct.1_Intron|SULT1A1_uc002dqj.2_Missense_Mutation_p.A101G|SULT1A1_uc002dqk.2_Missense_Mutation_p.A101G|SULT1A1_uc002dql.2_Missense_Mutation_p.A101G|SULT1A1_uc002dqm.2_Intron|SULT1A1_uc002dqn.2_Missense_Mutation_p.A192G|SULT1A1_uc002dqo.2_Missense_Mutation_p.A101G|SULT1A1_uc002dqp.2_Missense_Mutation_p.A101G	NM_177534	NP_803878	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A,	101					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						GAGTCGTGGGGCCGGTGTGTC	0.527													C	28619682	G	C	28619682	3	2	116	1	0	0	0	0	1	0	0	0	15371	1203	42	5	605	5	SULT1A1	16	28619682	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	25033516	28619682	61735071	136	74810											
SLC6A2	6530	broad.mit.edu	37	chr16	55729245	55729245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcttcgtctctgggttcGccatcttctccatccttggt	8	15	3	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr16:55729245G>A	uc002eif.2	+	8	1189	c.1078G>A	c.(1078-1080)GCC>ACC	p.A360T	SLC6A2_uc010ccd.2_Missense_Mutation_p.A360T|SLC6A2_uc002eig.2_Missense_Mutation_p.A360T|SLC6A2_uc002eih.2_Missense_Mutation_p.A360T|SLC6A2_uc002eii.2_Missense_Mutation_p.A255T|SLC6A2_uc002eij.2_Missense_Mutation_p.A74T	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	360	Helical; Name=7; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTCTGGGTTCGCCATCTTCTC	0.577													A	55729245	G	A	55729245	3	1	116	1	0	0	0	0	1	0	0	0	14683	1087	38	1	1195	1	SLC6A2	16	55729245	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	27109563	55729245	34625508	137	74811											
TAF1C	9013	broad.mit.edu	37	chr16	84218553	84218553	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctcagaccaagggggccGgtcagaaacaatgcagggcg	15	11	2	2	rs141321804	by1000genomes	TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr16:84218553G>A	uc002fhn.2	-	2	270	c.42C>T	c.(40-42)ACC>ACT	p.T14T	TAF1C_uc002fhm.2_Intron|TAF1C_uc010vnx.1_Silent_p.T14T|TAF1C_uc010vny.1_Intron|TAF1C_uc010vnz.1_Intron|TAF1C_uc002fho.2_Intron|TAF1C_uc010voa.1_Intron|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Silent_p.T14T	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	14					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			ovary(1)	1						CAAGGGGGCCGGTCAGAAACA	0.607													A	84218553	G	A	84218553	2	1	116	1	0	0	0	0	0	0	0	1	15518	1103	39	1		1	TAF1C	16	84218553	Silent	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	28489308	84218553	6136200	138	74812											
MTHFSD	64779	broad.mit.edu	37	chr16	86565700	86565700	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaagcaggagacggcctGctgggctgcggcagagtccg	17	12	0	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr16:86565700G>T	uc002fjn.2	-	8	1120	c.1069C>A	c.(1069-1071)CAG>AAG	p.Q357K	MTHFSD_uc010voo.1_Missense_Mutation_p.Q337K|MTHFSD_uc002fjo.2_Missense_Mutation_p.Q194K|MTHFSD_uc002fjm.2_Missense_Mutation_p.Q356K|MTHFSD_uc010vop.1_Missense_Mutation_p.Q194K|MTHFSD_uc010voq.1_Missense_Mutation_p.Q356K|MTHFSD_uc010vor.1_Missense_Mutation_p.Q357K	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain	357	RRM.				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding				0						GAGACGGCCTGCTGGGCTGCG	0.716													T	86565700	G	T	86565700	3	4	116	1	0	0	0	0	1	0	0	0	9933	1328	46	5	86	5	MTHFSD	16	86565700	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	2347147	86565700	3789053	139	74813											
TP53	7157	broad.mit.edu	37	chr17	7577556	7577556	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccggttcatgccgcccatgCaggaactgttacacatgtag	10	12	1	0	rs121912655		TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr17:7577556C>G	uc002gim.2	-	7	919	c.725G>C	c.(724-726)TGC>TCC	p.C242S	TP53_uc002gig.1_Missense_Mutation_p.C242S|TP53_uc002gih.2_Missense_Mutation_p.C242S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C110S|TP53_uc010cng.1_Missense_Mutation_p.C110S|TP53_uc002gii.1_Missense_Mutation_p.C110S|TP53_uc010cnh.1_Missense_Mutation_p.C242S|TP53_uc010cni.1_Missense_Mutation_p.C242S|TP53_uc002gij.2_Missense_Mutation_p.C242S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C149S|TP53_uc002gio.2_Missense_Mutation_p.C110S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	242	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).	Zinc.	C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C242F(63)|p.C242Y(37)|p.C242S(25)|p.C242fs*5(16)|p.C242R(11)|p.C242W(7)|p.0?(7)|p.N239_C242delNSSC(3)|p.C242*(3)|p.C242C(2)|p.C242G(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCGCCCATGCAGGAACTGTT	0.577		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			G	7577556	C	G	7577556	3	3	116	1	0	0	0	0	1	0	0	0	16378	710	25	5	565	5	TP53	17	7577556	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08		7577556	73617654	140	74814											
EFNB3	1949	broad.mit.edu	37	chr17	7611542	7611542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctggggccacgagttccGctcgcaccacgattactaca	9	15	1	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr17:7611542G>A	uc002gis.2	+	2	786	c.389G>A	c.(388-390)CGC>CAC	p.R130H		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	ephrin-B3 precursor	130	Extracellular (Potential).				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			ovary(1)	1		all_cancers(10;1.14e-06)|Prostate(122;0.081)				CACGAGTTCCGCTCGCACCAC	0.582													A	7611542	G	A	7611542	3	1	116	1	0	0	0	0	1	0	0	0	4957	1087	38	1	395	1	EFNB3	17	7611542	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	33986	7611542	73583668	141	74815											
ATAD5	79915	broad.mit.edu	37	chr17	29196362	29196362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacagggccaacaggagtggGaaaaactgctgcagtgtatg	14	7	0	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr17:29196362G>A	uc002hfs.1	+	13	3756	c.3410G>A	c.(3409-3411)GGA>GAA	p.G1137E	ATAD5_uc002hft.1_Missense_Mutation_p.G1034E	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1137	ATP (Potential).				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ACAGGAGTGGGAAAAACTGCT	0.413													A	29196362	G	A	29196362	3	1	116	1	0	0	0	0	1	0	0	0	1076	1174	41	4	3460	4	ATAD5	17	29196362	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	21584820	29196362	51998848	142	74816											
CCT6B	10693	broad.mit.edu	37	chr17	33286636	33286636	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcacattgccatctttGgtgagtttgatgtcacctgc	10	10	2	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr17:33286636G>A	uc002hig.2	-	2	265	c.171C>T	c.(169-171)ACC>ACT	p.T57T	CCT6B_uc010ctg.2_Silent_p.T57T|CCT6B_uc010wcc.1_Silent_p.T57T|ZNF830_uc002hih.3_5'Flank	NM_006584	NP_006575	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B	57					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			pancreas(1)	1		Ovarian(249;0.17)				TGCCATCTTTGGTGAGTTTGA	0.413													A	33286636	G	A	33286636	2	1	116	1	0	0	0	0	0	0	0	1	2958	1335	47	4		4	CCT6B	17	33286636	Silent	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	4090274	33286636	47908574	143	74817											
KRTAP4-1	85285	broad.mit.edu	37	chr17	39341075	39341075	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttgatcacagccctggtcaGagcagacagagccacaacaa	9	13	2	4			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr17:39341075G>T	uc002hwe.3	-	1	73	c.32C>A	c.(31-33)TCT>TAT	p.S11Y	KRTAP4-1_uc010cxm.1_RNA	NM_033060	NP_149049	Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	11	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCCCTGGTCAGAGCAGACAGA	0.552													T	39341075	G	T	39341075	3	4	116	1	0	0	0	0	1	0	0	0	8548	942	33	5	359	5	KRTAP4-1	17	39341075	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	6054439	39341075	41854135	144	74818											
HOXB5	3215	broad.mit.edu	37	chr17	46670652	46670652	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctggcctcgtctatttcGgtgaaattggcgctggagct	14	10	1	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr17:46670652G>A	uc002inr.2	-	1	452	c.393C>T	c.(391-393)ACC>ACT	p.T131T		NM_002147	NP_002138	P09067	HXB5_HUMAN	homeobox B5	131						nucleus	sequence-specific DNA binding				0						CGTCTATTTCGGTGAAATTGG	0.677													A	46670652	G	A	46670652	2	1	116	1	0	0	0	0	0	0	0	1	7304	1103	39	1		1	HOXB5	17	46670652	Silent	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	7329577	46670652	34524558	145	74819											
CLTC	1213	broad.mit.edu	37	chr17	57737878	57737878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgaagaactctttgccCggaaatttaatgctcttttt	8	8	2	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr17:57737878C>T	uc002ixq.1	+	7	1539	c.1096C>T	c.(1096-1098)CGG>TGG	p.R366W	CLTC_uc002ixp.2_Missense_Mutation_p.R366W|CLTC_uc002ixr.1_Missense_Mutation_p.R370W	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	366	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ACTCTTTGCCCGGAAATTTAA	0.408			T	ALK|TFE3	ALCL|renal 								T	57737878	C	T	57737878	3	4	116	1	0	0	0	0	1	0	0	0	3566	643	23	1	1122	1	CLTC	17	57737878	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	11067226	57737878	23457332	146	74820											
CCDC40	55036	broad.mit.edu	37	chr17	78039385	78039385	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccgcgacgaggcgcacagGgcggtgctggaggcgctcag	18	13	1	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr17:78039385G>T	uc010dht.2	+	10	1569	c.1542G>T	c.(1540-1542)AGG>AGT	p.R514S	CCDC40_uc010wub.1_Intron|CCDC40_uc002jxm.3_Missense_Mutation_p.R297S	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	514					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGCGCACAGGGCGGTGCTGG	0.687													T	78039385	G	T	78039385	3	4	116	1	0	0	0	0	1	0	0	0	2812	1223	43	5	1580	5	CCDC40	17	78039385	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	20301507	78039385	3155825	147	74821											
TMEM200C	645369	broad.mit.edu	37	chr18	5890542	5890542	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctccagccgcaggggtggCgagggggaggcggccttggc	20	13	0	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr18:5890542C>T	uc002kmx.1	-	1	1562	c.1521G>A	c.(1519-1521)TCG>TCA	p.S507S		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	transmembrane protein 200C	507	Pro-rich.					integral to membrane					0						GCAGGGGTGGCGAGGGGGAGG	0.756													T	5890542	C	T	5890542	2	4	116	1	0	0	0	0	0	0	0	1	16122	755	27	1		1	TMEM200C	18	5890542	Silent	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08		5890542	72186706	148	74822											
ZNF521	25925	broad.mit.edu	37	chr18	22807024	22807024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctacgaagagctcgtgGcagtagacacactggagggc	13	11	1	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr18:22807024G>A	uc002kvk.2	-	4	1105	c.858C>T	c.(856-858)TGC>TGT	p.C286C	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.C286C|ZNF521_uc002kvl.2_Silent_p.C66C	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	286	C2H2-type 7.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGAGCTCGTGGCAGTAGACAC	0.542			T	PAX5	ALL								A	22807024	G	A	22807024	2	1	116	1	0	0	0	0	0	0	0	1	17962	1195	42	2		2	ZNF521	18	22807024	Silent	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	16916482	22807024	55270224	149	74823											
DSG3	1830	broad.mit.edu	37	chr18	29039945	29039945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaaacactggggaagtcCgtactttgaccaattctctt	9	10	1	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr18:29039945C>T	uc002kws.2	+	6	764	c.655C>T	c.(655-657)CGT>TGT	p.R219C		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	219	Extracellular (Potential).|Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGGGGAAGTCCGTACTTTGAC	0.433													T	29039945	C	T	29039945	3	4	116	1	0	0	0	0	1	0	0	0	4778	652	23	1	677	1	DSG3	18	29039945	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	6232921	29039945	49037303	150	74824											
MALT1	10892	broad.mit.edu	37	chr18	56348528	56348528	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtgatttcctgcaggcTatggaacacactgaagttct	10	8	1	3			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr18:56348528T>C	uc002lhm.1	+	2	594	c.336T>C	c.(334-336)GCT>GCC	p.A112A	MALT1_uc002lhn.1_Silent_p.A112A	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma	112	Death.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			ovary(2)|lung(1)|central_nervous_system(1)	4						TCCTGCAGGCTATGGAACACA	0.458			T	BIRC3	MALT								C	56348528	T	C	56348528	2	2	116	1	0	0	0	0	0	0	0	1	9202	1509	53	3		3	MALT1	18	56348528	Silent	SNP	T	TCGA-BR-A4CS-01A-11D-A24D-08	27308583	56348528	21728720	151	74825											
SERPINB7	8710	broad.mit.edu	37	chr18	61468239	61468239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgcctgagaatgaccTctctgaagtaagttacgact	9	10	2	3			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr18:61468239T>C	uc002ljl.2	+	7	833	c.737T>C	c.(736-738)CTC>CCC	p.L246P	SERPINB7_uc002ljm.2_Missense_Mutation_p.L246P|SERPINB7_uc010xet.1_Missense_Mutation_p.L229P|SERPINB7_uc010dqg.2_Missense_Mutation_p.L246P	NM_001040147	NP_001035237	O75635	SPB7_HUMAN	serine (or cysteine) proteinase inhibitor, clade	246					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			lung(2)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)				GAGAATGACCTCTCTGAAGTA	0.373													C	61468239	T	C	61468239	3	2	116	1	0	0	0	0	1	0	0	0	14106	1551	54	3	759	3	SERPINB7	18	61468239	Missense_Mutation	SNP	T	TCGA-BR-A4CS-01A-11D-A24D-08	5119711	61468239	16609009	152	74826											
FBN3	84467	broad.mit.edu	37	chr19	8155087	8155087	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgttgaaagctttgggcaccGagcacttcccagcctcaaaa	9	12	1	1	rs79073744		TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr19:8155087G>T	uc002mjf.2	-	48	6101	c.6080C>A	c.(6079-6081)TCG>TAG	p.S2027*	FBN3_uc002mje.2_5'Flank	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2027	TB 8.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						TTTGGGCACCGAGCACTTCCC	0.622													T	8155087	G	T	8155087	4	4	116	1	0	0	0	0	0	1	0	0	5704	1059	37	5	2413	5	FBN3	19	8155087	Nonsense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08		8155087	50973896	153	74827											
RBCK1	10616	broad.mit.edu	37	chr20	407987	407987	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgaggattaccagcgatttCtagacctgggcatctccatt	9	11	2	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr20:407987C>A	uc002wdp.3	+	9	1753	c.1060C>A	c.(1060-1062)CTA>ATA	p.L354I	RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Missense_Mutation_p.L312I|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Missense_Mutation_p.L184I	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing	354					interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CCAGCGATTTCTAGACCTGGG	0.498													A	407987	C	A	407987	3	1	116	1	0	0	0	0	1	0	0	0	13107	912	32	5	1113	5	RBCK1	20	407987	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08		407987	62617533	154	74828											
PLCB1	23236	broad.mit.edu	37	chr20	8696959	8696959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgccgactgatctttggGgatgcccttctcatggagcc	11	12	2	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr20:8696959G>A	uc002wnb.2	+	13	1302	c.1299G>A	c.(1297-1299)GGG>GGA	p.G433G	PLCB1_uc010zrb.1_Silent_p.G332G|PLCB1_uc002wna.2_Silent_p.G433G|PLCB1_uc002wnc.1_Silent_p.G332G|PLCB1_uc002wnd.1_Silent_p.G10G	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	433	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						TGATCTTTGGGGATGCCCTTC	0.463													A	8696959	G	A	8696959	2	1	116	1	0	0	0	0	0	0	0	1	12027	1219	43	4		4	PLCB1	20	8696959	Silent	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	8288972	8696959	54328561	155	74829											
TMEM90B	79953	broad.mit.edu	37	chr20	24565546	24565546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcctcatgatgcccccgCgggaccacctgggcctcagt	10	16	2	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr20:24565546C>T	uc002wtw.1	+	3	1168	c.535C>T	c.(535-537)CGG>TGG	p.R179W		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	transmembrane protein 90B	179	Cytoplasmic (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane					0						GATGCCCCCGCGGGACCACCT	0.552													T	24565546	C	T	24565546	3	4	116	1	0	0	0	0	1	0	0	0	16216	759	27	1	541	1	TMEM90B	20	24565546	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	15868587	24565546	38459974	156	74830											
TTLL9	164395	broad.mit.edu	37	chr20	30486296	30486296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcagagagcatcgatccGgttcaagaccaccctcatga	10	12	2	4			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr20:30486296G>A	uc010gdx.1	+	4	387	c.134G>A	c.(133-135)CGG>CAG	p.R45Q	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Silent_p.P54P|TTLL9_uc010ztp.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	45	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCATCGATCCGGTTCAAGACC	0.527													A	30486296	G	A	30486296	3	1	116	1	0	0	0	0	1	0	0	0	16731	1116	39	1	144	1	TTLL9	20	30486296	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	5920750	30486296	32539224	157	74831											
KIAA0406	9675	broad.mit.edu	37	chr20	36641604	36641604	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtaaaaaagaggcaaaCaaatcccccagctgcttttg	8	11	0	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr20:36641604C>A	uc002xhl.2	-	3	824	c.615G>T	c.(613-615)TTG>TTT	p.L205F	KIAA0406_uc002xhm.2_Missense_Mutation_p.L205F	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	205							binding	p.L205F(1)			0		Myeloproliferative disorder(115;0.00874)				AAGAGGCAAACAAATCCCCCA	0.428													A	36641604	C	A	36641604	3	1	116	1	0	0	0	0	1	0	0	0	8173	477	17	5	2682	5	KIAA0406	20	36641604	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	6155308	36641604	26383916	158	74832											
WISP2	8839	broad.mit.edu	37	chr20	43344038	43344038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgcaggggacatgagaGgcacaccgaagacccacctc	12	14	1	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr20:43344038G>A	uc002xmn.2	+	2	360	c.7G>A	c.(7-9)GGC>AGC	p.G3S	uc002xml.1_Intron|uc002xmm.1_Intron|WISP2_uc002xmo.1_Missense_Mutation_p.G3S|WISP2_uc002xmp.2_Missense_Mutation_p.G3S|WISP2_uc002xmq.2_Missense_Mutation_p.G3S	NM_003881	NP_003872	O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	3					cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				GGACATGAGAGGCACACCGAA	0.567													A	43344038	G	A	43344038	3	1	116	1	0	0	0	0	1	0	0	0	17370	1000	35	4	9	4	WISP2	20	43344038	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	6702434	43344038	19681482	159	74833											
KCNS1	3787	broad.mit.edu	37	chr20	43726377	43726377	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tacgcggaagatgcgcatgaGgcggaacacctgcaccacct	12	13	0	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr20:43726377G>C	uc002xnc.2	-	4	1433	c.1036C>G	c.(1036-1038)CTC>GTC	p.L346V	KCNS1_uc002xnd.2_Missense_Mutation_p.L346V	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	346	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)				ATGCGCATGAGGCGGAACACC	0.657													C	43726377	G	C	43726377	3	2	116	1	0	0	0	0	1	0	0	0	8088	1000	35	5	552	5	KCNS1	20	43726377	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	382339	43726377	19299143	160	74834											
BCAS4	55653	broad.mit.edu	37	chr20	49458427	49458427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggatccgcagggctcccctCcttcaggaacgtgagtatcc	12	14	1	1	rs2145693	byFrequency	TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr20:49458427C>T	uc002xvq.2	+	4	543	c.479C>T	c.(478-480)TCC>TTC	p.S160F	BCAS4_uc002xvr.2_Missense_Mutation_p.S160F|BCAS4_uc002xvs.2_Intron	NM_017843	NP_060313	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4 isoform a	160						cytoplasm					0						GGGCTCCCCTCCTTCAGGAAC	0.672													T	49458427	C	T	49458427	3	4	116	1	0	0	0	0	1	0	0	0	1353	855	30	4	493	4	BCAS4	20	49458427	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	5732050	49458427	13567093	161	74835											
TSHZ2	128553	broad.mit.edu	37	chr20	51871044	51871044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttttcttctcagaagaaCgccaacttgcagttgtcctc	6	12	3	2	rs61758128	byFrequency	TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr20:51871044C>T	uc002xwo.2	+	2	2003	c.1047C>T	c.(1045-1047)AAC>AAT	p.N349N		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	349					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			CTCAGAAGAACGCCAACTTGC	0.498													T	51871044	C	T	51871044	2	4	116	1	0	0	0	0	0	0	0	1	16621	535	19	1		1	TSHZ2	20	51871044	Silent	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	2412617	51871044	11154476	162	74836											
RAB22A	57403	broad.mit.edu	37	chr20	56928380	56928380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcggctgcagctataatcGtttatgatatcacaaaagaa	9	7	1	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr20:56928380G>A	uc002xyz.2	+	4	512	c.250G>A	c.(250-252)GTT>ATT	p.V84I		NM_020673	NP_065724	Q9UL26	RB22A_HUMAN	RAS-related protein RAB-22A	84					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding				0	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			AGCTATAATCGTTTATGATAT	0.363													A	56928380	G	A	56928380	3	1	116	1	0	0	0	0	1	0	0	0	12909	1145	40	1	264	1	RAB22A	20	56928380	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	5057336	56928380	6097140	163	74837											
NCAM2	4685	broad.mit.edu	37	chr21	22656600	22656600	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtagtagtgcaaaaggaaGgtgttaggtcacggttaacc	15	5	1	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr21:22656600G>T	uc002yld.1	+	3	466	c.217G>T	c.(217-219)GGT>TGT	p.G73C	NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Missense_Mutation_p.G98C	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	73	Ig-like C2-type 1.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCAAAAGGAAGGTGTTAGGTC	0.408													T	22656600	G	T	22656600	3	4	116	1	0	0	0	0	1	0	0	0	10203	1000	35	5	227	5	NCAM2	21	22656600	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08		22656600	25473295	164	74838											
KRTAP19-6	337973	broad.mit.edu	37	chr21	31914074	31914074	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccatatctgtagcctccacAgccacagccatagcccagac	7	17	1	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr21:31914074A>C	uc002yok.1	-	1	108	c.79T>G	c.(79-81)TGT>GGT	p.C27G		NM_181612	NP_853643	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	27						intermediate filament					0						TAGCCTCCACAGCCACAGCCA	0.512													C	31914074	A	C	31914074	3	2	116	1	0	0	0	0	1	0	0	0	8533	188	7	5	101	5	KRTAP19-6	21	31914074	Missense_Mutation	SNP	A	TCGA-BR-A4CS-01A-11D-A24D-08	9257474	31914074	16215821	165	74839											
SYNJ1	8867	broad.mit.edu	37	chr21	34056362	34056362	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttacctctaagccaagaaAtgcctgcacactatttgttc	5	11	1	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr21:34056362A>C	uc002yqh.2	-	10	1303	c.1303T>G	c.(1303-1305)TTT>GTT	p.F435V	SYNJ1_uc011ads.1_Missense_Mutation_p.F396V|SYNJ1_uc002yqf.2_Missense_Mutation_p.F396V|SYNJ1_uc002yqg.2_Missense_Mutation_p.F396V|SYNJ1_uc002yqi.2_Missense_Mutation_p.F435V	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	396	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						AAGCCAAGAAATGCCTGCACA	0.318													C	34056362	A	C	34056362	3	2	116	1	0	0	0	0	1	0	0	0	15449	101	4	5	3661	5	SYNJ1	21	34056362	Missense_Mutation	SNP	A	TCGA-BR-A4CS-01A-11D-A24D-08	2142288	34056362	14073533	166	74840											
PCNT	5116	broad.mit.edu	37	chr21	47767412	47767412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcagaaatggagaaaaacGcccagatagtaaaggtaccc	9	8	1	3			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr21:47767412G>A	uc002zji.3	+	6	1125	c.1018G>A	c.(1018-1020)GCC>ACC	p.A340T	PCNT_uc002zjj.2_Missense_Mutation_p.A222T|PCNT_uc010gqk.1_RNA	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	340	Glu-rich.|Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GGAGAAAAACGCCCAGATAGT	0.463													A	47767412	G	A	47767412	3	1	116	1	0	0	0	0	1	0	0	0	11590	1087	38	1	1040	1	PCNT	21	47767412	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	13711050	47767412	362483	167	74841											
TOP3B	8940	broad.mit.edu	37	chr22	22323012	22323012	+	Frame_Shift_Del	DEL	G	G	-													ttggcctgcagcacccagtaGgtctctggtttgaaggactg							TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr22:22323011_22323011AG>A	uc002zvs.3	-	6	1153	c.718_718CT>T	c.(718-720)tacfs	p.Y240fs	TOP3B_uc010gtm.2_5'Flank|TOP3B_uc002zvt.4_Frame_Shift_Del_p.Y240fs|TOP3B_uc010gtl.3_Frame_Shift_Del_p.Y240fs	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	240					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AGCACCCAGTAGGTCTCTGGT	0.507													-	22323012	G	-	22323012	7	5	116	1	0	1	0	1	0	0	0	0	16365	987	35	0	1919	0	TOP3B	22	22323012	Frame_Shift_Del	DEL	G	TCGA-BR-A4CS-01A-11D-A24D-08		22323012	28981554	168	74842											
PRAME	23532	broad.mit.edu	37	chr22	22893347	22893347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtctggctgtgtctcccGtcaaaggctgccatgaagag	14	10	3	2	rs139977651	byFrequency	TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr22:22893347G>A	uc002zwf.2	-	3	342	c.186C>T	c.(184-186)GAC>GAT	p.D62D	LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Silent_p.D46D|PRAME_uc010gtr.2_Silent_p.D62D|PRAME_uc002zwg.2_Silent_p.D62D|PRAME_uc002zwh.2_Silent_p.D62D|PRAME_uc002zwi.2_Silent_p.D62D|PRAME_uc002zwj.2_Silent_p.D62D|PRAME_uc002zwk.2_Silent_p.D62D	NM_206956	NP_996839	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	62					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			central_nervous_system(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TGTGTCTCCCGTCAAAGGCTG	0.622													A	22893347	G	A	22893347	2	1	116	1	0	0	0	0	0	0	0	1	12424	1136	40	1		1	PRAME	22	22893347	Silent	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	570335	22893347	28411219	169	74843											
CELSR1	9620	broad.mit.edu	37	chr22	46760030	46760030	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccagagcccagggaagaCgtgcgcgaggatgtggggct	18	11	0	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr22:46760030C>T	uc003bhw.1	-	34	8898	c.8898G>A	c.(8896-8898)ACG>ACA	p.T2966T		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2966	Cytoplasmic (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCAGGGAAGACGTGCGCGAGG	0.692													T	46760030	C	T	46760030	2	4	116	1	0	0	0	0	0	0	0	1	3221	523	19	1		1	CELSR1	22	46760030	Silent	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	23866683	46760030	4544536	170	74844											
BRD1	23774	broad.mit.edu	37	chr22	50216701	50216701	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcttcctgaccttggatgtgGacctgaccgttttaaccgag	10	11	1	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr22:50216701G>T	uc003biv.2	-	1	1752	c.1265C>A	c.(1264-1266)TCC>TAC	p.S422Y	BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Missense_Mutation_p.S422Y|BRD1_uc011arh.1_Missense_Mutation_p.S422Y|BRD1_uc003biu.3_Missense_Mutation_p.S422Y	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	422					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTTGGATGTGGACCTGACCGT	0.552													T	50216701	G	T	50216701	3	4	116	1	0	0	0	0	1	0	0	0	1501	1174	41	5	1959	5	BRD1	22	50216701	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	3456671	50216701	1087865	171	74845											
SBF1	6305	broad.mit.edu	37	chr22	50903026	50903026	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagctgggggtgcaccctGcatcttggctgcagcctggt	14	13	1	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr22:50903026G>A	uc003blh.2	-	14	1768	c.1573C>T	c.(1573-1575)CAG>TAG	p.Q525*	SBF1_uc011arx.1_Nonsense_Mutation_p.Q189*|SBF1_uc003bli.2_Nonsense_Mutation_p.Q526*	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	525					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGTGCACCCTGCATCTTGGCT	0.697													A	50903026	G	A	50903026	4	1	116	1	0	0	0	0	0	1	0	0	13858	1328	46	2	4220	2	SBF1	22	50903026	Nonsense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	686325	50903026	401540	172	74846											
BEND2	139105	broad.mit.edu	37	chrX	18192243	18192243	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggctgcaagttcctcttttCtctcattttggagttattca	7	9	4	0			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chrX:18192243C>A	uc004cyj.3	-	12	2042	c.1888G>T	c.(1888-1890)GAA>TAA	p.E630*	BEND2_uc010nfb.2_Nonsense_Mutation_p.E539*	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	630				E -> V (in Ref. 2; AAH37301).						ovary(3)|kidney(1)|central_nervous_system(1)	5						TTCCTCTTTTCTCTCATTTTG	0.458													A	18192243	C	A	18192243	4	1	116	1	0	0	0	0	0	1	0	0	1398	922	32	5	549	5	BEND2	23	18192243	Nonsense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08		18192243	137078317	173	74847											
FAM48B2	170067	broad.mit.edu	37	chrX	24331315	24331316	+	Frame_Shift_Ins	INS	-	-	T													tcaacataaatgtcataaagINStttttcctgcagagtttttc							TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chrX:24331315_24331316insT	uc011mjw.1	-	1	117_118	c.117_118insA	c.(115-120)AAACTTfs	p.K39fs		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	family with sequence similarity 48, member B2	39_40											0						ATGTCATAAAGTTTTTCCTGCA	0.426													T	24331316	-	T	24331315	7	5	116	1	0	1	1	0	0	0	0	0	5574	1029	36	0	2338	0	FAM48B2	23	24331315	Frame_Shift_Ins	INS	-	TCGA-BR-A4CS-01A-11D-A24D-08	6139072	24331315	130939245	174	74848	336	2									
FAM48B2	170067	broad.mit.edu	37	chrX	24331316	24331317	+	Frame_Shift_Ins	INS	-	-	T													caacataaatgtcataaagtINSttttcctgcagagtttttcc							TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chrX:24331315_24331316G>GT	uc011mjw.2	-	0	117_118	c.117_118C>AC	c.(115-120)aaacttfs	p.K39fs		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	Homo sapiens family with sequence similarity 48, member B2 (FAM48B2), mRNA.	39										breast(1)|endometrium(4)|large_intestine(1)|liver(1)|lung(12)|ovary(2)|prostate(1)|skin(1)	23						ATGTCATAAAGTTTTTCCTGCA	0.426													T	24331317	-	T	24331316	7	5	116	1	0	1	1	0	0	0	0	0	5574	1722	60	0	2339	0	FAM48B2	23	24331316	Frame_Shift_Ins	INS	-	TCGA-BR-A4CS-01A-11D-A24D-08	1	24331316	130939244	175	74849	336	2									
TFE3	7030	broad.mit.edu	37	chrX	48887694	48887694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcctcttccatgctgaagCtgctgcggcggctgctggcc	12	15	1	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chrX:48887694C>T	uc004dmb.3	-	10	1941	c.1703G>A	c.(1702-1704)AGC>AAC	p.S568N	TFE3_uc004dmc.3_Missense_Mutation_p.S463N	NM_006521	NP_006512	P19532	TFE3_HUMAN	transcription factor E3	568					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						CATGCTGAAGCTGCTGCGGCG	0.657			T	SFPQ|ASPSCR1|PRCC|NONO|CLTC	papillary renal|alveolar soft part sarcoma|renal								T	48887694	C	T	48887694	3	4	116	1	0	0	0	0	1	0	0	0	15797	797	28	2	28	2	TFE3	23	48887694	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	24556378	48887694	106382866	176	74850											
HUWE1	10075	broad.mit.edu	37	chrX	53590779	53590779	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggtcctccagctcattctCaacctggagagaaatagaac	8	12	2	2			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chrX:53590779C>T	uc004dsp.2	-	52	7435	c.7033G>A	c.(7033-7035)GAG>AAG	p.E2345K	HUWE1_uc004dsn.2_Missense_Mutation_p.E1169K	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2345	Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						AGCTCATTCTCAACCTGGAGA	0.448													T	53590779	C	T	53590779	3	4	116	1	0	0	0	0	1	0	0	0	7461	835	29	4	6223	4	HUWE1	23	53590779	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	4703085	53590779	101679781	177	74851											
BRWD3	254065	broad.mit.edu	37	chrX	79978259	79978259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgaataagaggacgataatCcgtgtggaagaacatctgat	11	6	1	3			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chrX:79978259C>T	uc004edt.2	-	17	1941	c.1678G>A	c.(1678-1680)GAT>AAT	p.D560N	BRWD3_uc004edo.2_Missense_Mutation_p.D156N|BRWD3_uc004edp.2_Missense_Mutation_p.D389N|BRWD3_uc004edq.2_Missense_Mutation_p.D156N|BRWD3_uc010nmj.1_Missense_Mutation_p.D156N|BRWD3_uc004edr.2_Missense_Mutation_p.D230N|BRWD3_uc004eds.2_Missense_Mutation_p.D156N|BRWD3_uc004edu.2_Missense_Mutation_p.D230N|BRWD3_uc004edv.2_Missense_Mutation_p.D156N|BRWD3_uc004edw.2_Missense_Mutation_p.D156N|BRWD3_uc004edx.2_Missense_Mutation_p.D156N|BRWD3_uc004edy.2_Missense_Mutation_p.D156N|BRWD3_uc004edz.2_Missense_Mutation_p.D230N|BRWD3_uc004eea.2_Missense_Mutation_p.D230N|BRWD3_uc004eeb.2_Missense_Mutation_p.D156N	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	560										ovary(4)	4						GGACGATAATCCGTGTGGAAG	0.383													T	79978259	C	T	79978259	3	4	116	1	0	0	0	0	1	0	0	0	1526	855	30	4	3830	4	BRWD3	23	79978259	Missense_Mutation	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	26387480	79978259	75292301	178	74852											
ZNF711	7552	broad.mit.edu	37	chrX	84526509	84526509	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgcaggcactgtgactTtaaaacatccgatccattta	7	10	1	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chrX:84526509T>C	uc004eeo.2	+	9	2308	c.1961T>C	c.(1960-1962)TTT>TCT	p.F654S	ZNF711_uc004eep.2_Missense_Mutation_p.F654S|ZNF711_uc004eeq.2_Missense_Mutation_p.F700S|ZNF711_uc011mqy.1_Missense_Mutation_p.F253S	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	654	C2H2-type 9.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			ovary(3)|skin(1)	4						CACTGTGACTTTAAAACATCC	0.393													C	84526509	T	C	84526509	3	2	116	1	0	0	0	0	1	0	0	0	18113	1841	64	3	1987	3	ZNF711	23	84526509	Missense_Mutation	SNP	T	TCGA-BR-A4CS-01A-11D-A24D-08	4548250	84526509	70744051	179	74853											
PCDH19	57526	broad.mit.edu	37	chrX	99662933	99662933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgatactaaggccaacGgtgcccaggcgcggcgggtc	14	13	0	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chrX:99662933G>A	uc010nmz.2	-	1	2339	c.663C>T	c.(661-663)ACC>ACT	p.T221T	PCDH19_uc004efw.3_Silent_p.T221T|PCDH19_uc004efx.3_Silent_p.T221T	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	221	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						TAAGGCCAACGGTGCCCAGGC	0.607													A	99662933	G	A	99662933	2	1	116	1	0	0	0	0	0	0	0	1	11514	1103	39	1		1	PCDH19	23	99662933	Silent	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	15136424	99662933	55607627	180	74854											
DRP2	1821	broad.mit.edu	37	chrX	100513426	100513426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcttctggccgaggcccGtatccttcggcaacataaga	12	12	1	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chrX:100513426G>A	uc004egz.2	+	22	2888	c.2519G>A	c.(2518-2520)CGT>CAT	p.R840H	DRP2_uc011mrh.1_Missense_Mutation_p.R762H	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	840					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						GCCGAGGCCCGTATCCTTCGG	0.602													A	100513426	G	A	100513426	3	1	116	1	0	0	0	0	1	0	0	0	4764	1145	40	1	2597	1	DRP2	23	100513426	Missense_Mutation	SNP	G	TCGA-BR-A4CS-01A-11D-A24D-08	850493	100513426	54757134	181	74855											
HTR2C	3358	broad.mit.edu	37	chrX	113965892	113965892	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtggcaacatccttgtgatCatggcagtaagcatggaaaa	12	7	1	1			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chrX:113965892C>A	uc004epu.1	+	4	953	c.225C>A	c.(223-225)ATC>ATA	p.I75I	HTR2C_uc010nqc.1_Silent_p.I75I|HTR2C_uc004epv.1_Silent_p.I75I	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	75	Helical; Name=1; (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TCCTTGTGATCATGGCAGTAA	0.448													A	113965892	C	A	113965892	2	1	116	1	0	0	0	0	0	0	0	1	7443	816	29	5		5	HTR2C	23	113965892	Silent	SNP	C	TCGA-BR-A4CS-01A-11D-A24D-08	13452466	113965892	41304668	182	74856											
RNF19B	127544	broad.mit.edu	37	chr1	33402454	33402454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcaagacagtttgtccctCggctagggcagagaggttca	12	10	2	2			TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chr1:33402454C>T	uc010oho.1	-	9	2152	c.2152G>A	c.(2152-2154)GAG>AAG	p.E718K	RNF19B_uc001bwm.3_3'UTR|RNF19B_uc010ohp.1_Missense_Mutation_p.E717K	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B isoform a	718						integral to membrane	ligase activity|protein binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTTTGTCCCTCGGCTAGGGCA	0.567													T	33402454	C	T	33402454	3	4	117	1	0	0	0	0	1	0	0	0	13471	893	31	1	50	1	RNF19B	1	33402454	Missense_Mutation	SNP	C	TCGA-BR-A4IU-01A-22D-A25D-08		33402454	215848167	1	74857											
SPTA1	6708	broad.mit.edu	37	chr1	158606544	158606544	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagctcactcgtatcaActtctccctaaaatcaagga	7	12	4	0			TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chr1:158606544A>C	uc001fst.1	-	37	5396	c.5197T>G	c.(5197-5199)TTG>GTG	p.L1733V		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1733	Spectrin 17.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					ACTCGTATCAACTTCTCCCTA	0.473													C	158606544	A	C	158606544	3	2	117	1	0	0	0	0	1	0	0	0	15115	40	2	5	2126	5	SPTA1	1	158606544	Missense_Mutation	SNP	A	TCGA-BR-A4IU-01A-22D-A25D-08	125204090	158606544	90644077	2	74858											
FCRLA	84824	broad.mit.edu	37	chr1	161682978	161682978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggcctctgcctccgccGccaaccccatcttctgagga	9	19	3	1			TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chr1:161682978G>A	uc001gbe.2	+	6	1199	c.957G>A	c.(955-957)CCG>CCA	p.P319P	FCRLA_uc001gbd.2_Silent_p.P313P|FCRLA_uc001gbf.2_Silent_p.P224P|FCRLA_uc001gbg.2_Silent_p.P173P|FCRLA_uc009wuo.2_Silent_p.P179P|FCRLA_uc009wup.2_Silent_p.P129P|FCRLA_uc009wuq.2_Silent_p.P78P	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	296	Pro-rich.				cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TGCCTCCGCCGCCAACCCCAT	0.572													A	161682978	G	A	161682978	2	1	117	1	0	0	0	0	0	0	0	1	5800	1074	38	1		1	FCRLA	1	161682978	Silent	SNP	G	TCGA-BR-A4IU-01A-22D-A25D-08	3076434	161682978	87567643	3	74859											
OR2L8	391190	broad.mit.edu	37	chr1	248112415	248112415	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatggcatctgattttctgCatggaaacaagtctatctcc	8	9	4	2			TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chr1:248112415C>A	uc001idt.1	+	1	256	c.256C>A	c.(256-258)CAT>AAT	p.H86N	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	86	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TGATTTTCTGCATGGAAACAA	0.448													A	248112415	C	A	248112415	3	1	117	1	0	0	0	0	1	0	0	0	11009	710	25	5	258	5	OR2L8	1	248112415	Missense_Mutation	SNP	C	TCGA-BR-A4IU-01A-22D-A25D-08	86429437	248112415	1138206	4	74860											
GK2	2712	broad.mit.edu	37	chr4	80328138	80328138	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttcatggcttccaaaatcTctcgggtttggaaacaaaca	9	9	2	0			TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chr4:80328138T>C	uc003hlu.2	-	1	1235	c.1217A>G	c.(1216-1218)GAG>GGG	p.E406G		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	glycerol kinase 2	406					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			ovary(2)|skin(2)	4						TTCCAAAATCTCTCGGGTTTG	0.443													C	80328138	T	C	80328138	3	2	117	1	0	0	0	0	1	0	0	0	6421	1551	54	3	448	3	GK2	4	80328138	Missense_Mutation	SNP	T	TCGA-BR-A4IU-01A-22D-A25D-08		80328138	110826138	5	74861											
RXFP1	59350	broad.mit.edu	37	chr4	159493865	159493865	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctcagtttctcatgggggtgGacaggatgtcaagtgctccc	13	10	3	0			TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chr4:159493865G>T	uc003ipz.2	+	2	147	c.65G>T	c.(64-66)GGA>GTA	p.G22V	RXFP1_uc010iqj.1_5'UTR|RXFP1_uc011cja.1_5'UTR|RXFP1_uc010iqo.2_Missense_Mutation_p.G22V|RXFP1_uc011cjb.1_5'UTR|RXFP1_uc010iqk.2_5'UTR|RXFP1_uc011cjc.1_5'UTR|RXFP1_uc011cjd.1_5'UTR|RXFP1_uc010iql.2_5'UTR|RXFP1_uc011cje.1_Missense_Mutation_p.G22V|RXFP1_uc010iqm.2_Missense_Mutation_p.G22V|RXFP1_uc011cjf.1_5'UTR|RXFP1_uc010iqn.2_Intron	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	22	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CATGGGGGTGGACAGGATGTC	0.488													T	159493865	G	T	159493865	3	4	117	1	0	0	0	0	1	0	0	0	13759	1174	41	5	71	5	RXFP1	4	159493865	Missense_Mutation	SNP	G	TCGA-BR-A4IU-01A-22D-A25D-08	79165727	159493865	31660411	6	74862											
SPEF2	79925	broad.mit.edu	37	chr5	35694396	35694396	+	Frame_Shift_Del	DEL	C	C	-													ttttctctccaaaggatccaCaacatgtattttcagctggt							TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chr5:35694396delC	uc003jjo.2	+	13	2017	c.1906delC	c.(1906-1908)CAAfs	p.Q636fs	SPEF2_uc003jjq.3_Frame_Shift_Del_p.Q636fs|SPEF2_uc003jjp.1_Frame_Shift_Del_p.Q127fs	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	636					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAGGATCCACAACATGTATT	0.323													-	35694396	C	-	35694396	7	5	117	1	0	1	0	1	0	0	0	0	15034	479	17	0	1977	0	SPEF2	5	35694396	Frame_Shift_Del	DEL	C	TCGA-BR-A4IU-01A-22D-A25D-08		35694396	145220864	7	74863											
PCDHB9	56127	broad.mit.edu	37	chr5	140568790	140568790	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggctgctgagcgagcgCgacgcagccaagcacaggct	15	14	0	1			TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chr5:140568790C>T	uc003liw.1	+	3	1899	c.1899C>T	c.(1897-1899)CGC>CGT	p.R633R		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	633	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCAGCCA	0.682													T	140568790	C	T	140568790	2	4	117	1	0	0	0	0	0	0	0	1	11549	768	27	1		1	PCDHB9	5	140568790	Silent	SNP	C	TCGA-BR-A4IU-01A-22D-A25D-08	104874394	140568790	40346470	8	74864											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751697	140751697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgctcttcgatatggtgcCgcgctctgcagagcctggct	13	13	2	1			TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chr5:140751697C>T	uc003ljw.1	+	1	1736	c.1736C>T	c.(1735-1737)CCG>CTG	p.P579L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.P579L|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	579	Extracellular (Potential).|Cadherin 6.				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)			GATATGGTGCCGCGCTCTGCA	0.642													T	140751697	C	T	140751697	3	4	117	1	0	0	0	0	1	0	0	0	11564	652	23	1	1738	1	PCDHGB3	5	140751697	Missense_Mutation	SNP	C	TCGA-BR-A4IU-01A-22D-A25D-08	182907	140751697	40163563	9	74865											
PCDHGA12	26025	broad.mit.edu	37	chr5	140810837	140810837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaactctctgcagagctacGagctcagcccgaacactcac	8	15	3	2			TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chr5:140810837G>A	uc003lkt.1	+	1	680	c.511G>A	c.(511-513)GAG>AAG	p.E171K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.E171K	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	171	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGAGCTACGAGCTCAGCCC	0.527													A	140810837	G	A	140810837	3	1	117	1	0	0	0	0	1	0	0	0	11553	1059	37	1	513	1	PCDHGA12	5	140810837	Missense_Mutation	SNP	G	TCGA-BR-A4IU-01A-22D-A25D-08	59140	140810837	40104423	10	74866											
ZNF318	24149	broad.mit.edu	37	chr6	43323429	43323429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggctttggtacggattctGcctttaaatcctcttcttca	9	10	4	0			TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chr6:43323429G>A	uc003oux.2	-	4	1721	c.1643C>T	c.(1642-1644)GCA>GTA	p.A548V	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	548					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TACGGATTCTGCCTTTAAATC	0.478													A	43323429	G	A	43323429	3	1	117	1	0	0	0	0	1	0	0	0	17833	1319	46	2	5224	2	ZNF318	6	43323429	Missense_Mutation	SNP	G	TCGA-BR-A4IU-01A-22D-A25D-08		43323429	127791638	11	74867											
PRDM1	639	broad.mit.edu	37	chr6	106555018	106555018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaaagggaactgcgctgCggccccggcgcctgggctgc	16	15	0	1			TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chr6:106555018C>T	uc003prd.2	+	7	2369	c.2135C>T	c.(2134-2136)GCG>GTG	p.A712V	PRDM1_uc003pre.2_Missense_Mutation_p.A578V	NM_001198	NP_001189	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain isoform	712					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AACTGCGCTGCGGCCCCGGCG	0.582			D|N|Mis|F|S		DLBCL								T	106555018	C	T	106555018	3	4	117	1	0	0	0	0	1	0	0	0	12450	768	27	1	2174	1	PRDM1	6	106555018	Missense_Mutation	SNP	C	TCGA-BR-A4IU-01A-22D-A25D-08	63231589	106555018	64560049	12	74868											
WBSCR17	64409	broad.mit.edu	37	chr7	71175811	71175811	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaccaccacactcctcccTgacacccgctgcctggtgga	10	18	0	1			TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chr7:71175811T>C	uc003tvy.2	+	10	1566	c.1566T>C	c.(1564-1566)CCT>CCC	p.P522P	WBSCR17_uc003tvz.2_Silent_p.P221P	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	522	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CACTCCTCCCTGACACCCGCT	0.612													C	71175811	T	C	71175811	2	2	117	1	0	0	0	0	0	0	0	1	17261	1567	55	3		3	WBSCR17	7	71175811	Silent	SNP	T	TCGA-BR-A4IU-01A-22D-A25D-08		71175811	87962852	13	74869											
TG	7038	broad.mit.edu	37	chr8	134108585	134108585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcattgggagttctcaggacGacgggctcatcaacagagca	12	10	4	1			TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chr8:134108585G>A	uc003ytw.2	+	43	7581	c.7540G>A	c.(7540-7542)GAC>AAC	p.D2514N	TG_uc010mdw.2_Missense_Mutation_p.D1273N|TG_uc011ljb.1_Missense_Mutation_p.D883N|TG_uc011ljc.1_Missense_Mutation_p.D647N|SLA_uc003ytz.2_Intron|SLA_uc011lje.1_Intron|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Intron|SLA_uc010mea.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2514					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTCTCAGGACGACGGGCTCAT	0.562													A	134108585	G	A	134108585	3	1	117	1	0	0	0	0	1	0	0	0	15810	1058	37	1	7710	1	TG	8	134108585	Missense_Mutation	SNP	G	TCGA-BR-A4IU-01A-22D-A25D-08		134108585	12255437	14	74870											
RET	5979	broad.mit.edu	37	chr10	43612057	43612057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaaagtgggaattccctcGgaagaacttggttcttggaa	11	8	1	1			TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chr10:43612057G>A	uc001jal.2	+	12	2352	c.2162G>A	c.(2161-2163)CGG>CAG	p.R721Q	RET_uc001jak.1_Missense_Mutation_p.R721Q|RET_uc010qez.1_Missense_Mutation_p.R467Q	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	721	Cytoplasmic (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	GAATTCCCTCGGAAGAACTTG	0.512		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				A	43612057	G	A	43612057	3	1	117	1	0	0	0	0	1	0	0	0	13235	1116	39	1	2208	1	RET	10	43612057	Missense_Mutation	SNP	G	TCGA-BR-A4IU-01A-22D-A25D-08		43612057	91922690	15	74871											
DLG5	9231	broad.mit.edu	37	chr10	79581291	79581291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagtctattttggggggtGtctgggggcgtttgaaagtg	19	3	2	1			TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chr10:79581291G>A	uc001jzk.2	-	15	3021	c.2951C>T	c.(2950-2952)ACA>ATA	p.T984I	DLG5_uc001jzi.2_5'Flank|DLG5_uc001jzj.2_Intron|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.T588I	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	984	Pro-rich.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TTTGGGGGGTGTCTGGGGGCG	0.552													A	79581291	G	A	79581291	3	1	117	1	0	0	0	0	1	0	0	0	4558	1377	48	4	2880	4	DLG5	10	79581291	Missense_Mutation	SNP	G	TCGA-BR-A4IU-01A-22D-A25D-08	35969234	79581291	55953456	16	74872											
NRG3	10718	broad.mit.edu	37	chr10	84498378	84498378	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgttgtgatcaatttctgccGaaaactgattccatcttatc	6	10	3	2			TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chr10:84498378G>A	uc001kco.2	+	3	1026	c.999G>A	c.(997-999)CCG>CCA	p.P333P	NRG3_uc010qlz.1_Silent_p.P333P|NRG3_uc001kcp.2_Silent_p.P112P|NRG3_uc001kcq.2_5'UTR	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	333	Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AATTTCTGCCGAAAACTGATT	0.398													A	84498378	G	A	84498378	2	1	117	1	0	0	0	0	0	0	0	1	10649	1045	37	1		1	NRG3	10	84498378	Silent	SNP	G	TCGA-BR-A4IU-01A-22D-A25D-08	4917087	84498378	51036369	17	74873											
GRID1	2894	broad.mit.edu	37	chr10	87487712	87487712	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatctcatatttaaagcccAgagccttggccagtgcatcc	7	12	1	1			TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chr10:87487712A>G	uc001kdl.1	-	10	1534	c.1433T>C	c.(1432-1434)CTG>CCG	p.L478P	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.L49P	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	478	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	TTTAAAGCCCAGAGCCTTGGC	0.537										Multiple Myeloma(13;0.14)			G	87487712	A	G	87487712	3	3	117	1	0	0	0	0	1	0	0	0	6771	188	7	3	1624	3	GRID1	10	87487712	Missense_Mutation	SNP	A	TCGA-BR-A4IU-01A-22D-A25D-08	2989334	87487712	48047035	18	74874											
OR52J3	119679	broad.mit.edu	37	chr11	5068425	5068425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgtatgtttacattctcCgtgctgtcttccgcctccca	6	15	3	0	rs142062445	byFrequency	TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chr11:5068425C>T	uc010qyv.1	+	1	670	c.670C>T	c.(670-672)CGT>TGT	p.R224C		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J,	224	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|lung(1)|skin(1)	3		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTACATTCTCCGTGCTGTCTT	0.448													T	5068425	C	T	5068425	3	4	117	1	0	0	0	0	1	0	0	0	11122	652	23	1	672	1	OR52J3	11	5068425	Missense_Mutation	SNP	C	TCGA-BR-A4IU-01A-22D-A25D-08		5068425	129938091	19	74875											
HBG2	3048	broad.mit.edu	37	chr11	5275655	5275655	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttgccatgtgccttgActttggggttgcccatgatg	11	11	1	2			TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chr11:5275655A>G	uc001mai.1	-	2	619	c.182T>C	c.(181-183)GTC>GCC	p.V61A	HBG2_uc001mak.1_RNA|HBG2_uc001maj.1_Missense_Mutation_p.V61A	NM_000559	NP_000550	P69892	HBG2_HUMAN	A-gamma globin	61					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			skin(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGTGCCTTGACTTTGGGGTT	0.537													G	5275655	A	G	5275655	3	3	117	1	0	0	0	0	1	0	0	0	6983	275	10	3	269	3	HBG2	11	5275655	Missense_Mutation	SNP	A	TCGA-BR-A4IU-01A-22D-A25D-08	207230	5275655	129730861	20	74876											
PGR	5241	broad.mit.edu	37	chr11	100922231	100922231	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggatctccatcctagaccaaAcaccattaagctcatccaag	5	14	2	1			TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chr11:100922231A>T	uc001pgh.2	-	5	3024	c.2281T>A	c.(2281-2283)TTT>ATT	p.F761I	PGR_uc001pgg.2_Missense_Mutation_p.F142I|PGR_uc001pgi.2_Missense_Mutation_p.F659I|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	761	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CCTAGACCAAACACCATTAAG	0.348													T	100922231	A	T	100922231	3	4	117	1	0	0	0	0	1	0	0	0	11805	43	2	5	536	5	PGR	11	100922231	Missense_Mutation	SNP	A	TCGA-BR-A4IU-01A-22D-A25D-08	95646576	100922231	34084285	21	74877											
TP53	7157	broad.mit.edu	37	chr17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtagatggccatggcgCggacgcgggtgccgggcggg	21	10	0	1			TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chr17:7578457C>T	uc002gim.2	-	5	667	c.473G>A	c.(472-474)CGC>CAC	p.R158H	TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.2_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.1_Missense_Mutation_p.R119H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	158	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCCATGGCGCGGACGCGGGT	0.627		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7578457	C	T	7578457	3	4	117	1	0	0	0	0	1	0	0	0	16378	768	27	1	825	1	TP53	17	7578457	Missense_Mutation	SNP	C	TCGA-BR-A4IU-01A-22D-A25D-08		7578457	73616753	22	74878											
ATP1A3	478	broad.mit.edu	37	chr19	42490135	42490135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatcttctcaccttcccGgatcaccagggcttgctgag	9	15	3	1			TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chr19:42490135G>A	uc002osg.2	-	6	641	c.487C>T	c.(487-489)CGG>TGG	p.R163W	ATP1A3_uc010xwf.1_Missense_Mutation_p.R174W|ATP1A3_uc010xwg.1_Missense_Mutation_p.R133W|ATP1A3_uc010xwh.1_Missense_Mutation_p.R176W|ATP1A3_uc002osh.2_Missense_Mutation_p.R163W	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	163	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						TCACCTTCCCGGATCACCAGG	0.622													A	42490135	G	A	42490135	3	1	117	1	0	0	0	0	1	0	0	0	1130	1115	39	1	2626	1	ATP1A3	19	42490135	Missense_Mutation	SNP	G	TCGA-BR-A4IU-01A-22D-A25D-08		42490135	16638848	23	74879											
C20orf26	26074	broad.mit.edu	37	chr20	20257982	20257982	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcggacgcgctaggagcCgccggagtcactatgtaccg	16	12	1	0			TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chr20:20257982C>T	uc002wru.2	+	22	2752	c.2676C>T	c.(2674-2676)GCC>GCT	p.A892A	C20orf26_uc010zse.1_Silent_p.A872A|C20orf26_uc002wrw.2_RNA	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	892										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		CGCTAGGAGCCGCCGGAGTCA	0.667													T	20257982	C	T	20257982	2	4	117	1	0	0	0	0	0	0	0	1	2106	639	23	1		1	C20orf26	20	20257982	Silent	SNP	C	TCGA-BR-A4IU-01A-22D-A25D-08		20257982	42767538	24	74880											
NHS	4810	broad.mit.edu	37	chrX	17744273	17744273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggatgccagtgttttcGtgacagagcaatacaatgac	11	7	0	4			TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chrX:17744273G>A	uc004cxx.2	+	6	2322	c.1984G>A	c.(1984-1986)GTG>ATG	p.V662M	NHS_uc011mix.1_Missense_Mutation_p.V683M|NHS_uc004cxy.2_Missense_Mutation_p.V506M|NHS_uc004cxz.2_Missense_Mutation_p.V485M|NHS_uc004cya.2_Missense_Mutation_p.V385M	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	662						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					CAGTGTTTTCGTGACAGAGCA	0.517													A	17744273	G	A	17744273	3	1	117	1	0	0	0	0	1	0	0	0	10411	1145	40	1	2111	1	NHS	23	17744273	Missense_Mutation	SNP	G	TCGA-BR-A4IU-01A-22D-A25D-08		17744273	137526287	25	74881											
NKRF	55922	broad.mit.edu	37	chrX	118724855	118724855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcttccagattgtcgccGttaatttttcaataaaatac	6	8	2	1	rs144370117		TCGA-BR-A4IU-01A-22D-A25D-08	TCGA-BR-A4IU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0ced3b1-37d8-4846-86c1-33f0b064f628	332d8b81-8600-42ab-b80c-942c30d8f916	g.chrX:118724855G>A	uc004erq.2	-	2	1186	c.533C>T	c.(532-534)ACG>ATG	p.T178M	NKRF_uc004err.2_Missense_Mutation_p.T178M	NM_017544	NP_060014	O15226	NKRF_HUMAN	transcription factor NRF	178	Active repression domain.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			ovary(1)|central_nervous_system(1)	2						GATTGTCGCCGTTAATTTTTC	0.398													A	118724855	G	A	118724855	3	1	117	1	0	0	0	0	1	0	0	0	10447	1145	40	1	1543	1	NKRF	23	118724855	Missense_Mutation	SNP	G	TCGA-BR-A4IU-01A-22D-A25D-08	100980582	118724855	36545705	26	74882											
TTF2	8458	broad.mit.edu	37	chr1	117618069	117618069	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caacaaggagtacacgaactGggaggctaaagaaacaaagg	12	7	0	1			TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr1:117618069G>T	uc001egy.2	+	5	883	c.863G>T	c.(862-864)TGG>TTG	p.W288L	TTF2_uc001egx.1_Missense_Mutation_p.W288L	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	288					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TACACGAACTGGGAGGCTAAA	0.522													T	117618069	G	T	117618069	3	4	118	1	0	0	0	0	1	0	0	0	16716	1357	47	5	881	5	TTF2	1	117618069	Missense_Mutation	SNP	G	TCGA-BR-A4IV-01A-31D-A25D-08		117618069	131632552	1	74883											
IQGAP3	128239	broad.mit.edu	37	chr1	156510514	156510514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatacctgcagagtgatccGgttcttcaccagcaggccaa	9	14	2	2			TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr1:156510514G>A	uc001fpf.2	-	23	2800	c.2725C>T	c.(2725-2727)CGG>TGG	p.R909W		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	909					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGAGTGATCCGGTTCTTCACC	0.537													A	156510514	G	A	156510514	3	1	118	1	0	0	0	0	1	0	0	0	7816	1115	39	1	2234	1	IQGAP3	1	156510514	Missense_Mutation	SNP	G	TCGA-BR-A4IV-01A-31D-A25D-08	38892445	156510514	92740107	2	74884											
OR10K1	391109	broad.mit.edu	37	chr1	158435617	158435617	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttgacctgctgtcccagaAgaagaccatttctttcctgg	10	11	1	4			TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr1:158435617A>C	uc010pij.1	+	1	266	c.266A>C	c.(265-267)AAG>ACG	p.K89T		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K,	89	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					CTGTCCCAGAAGAAGACCATT	0.488													C	158435617	A	C	158435617	3	2	118	1	0	0	0	0	1	0	0	0	10913	72	3	5	268	5	OR10K1	1	158435617	Missense_Mutation	SNP	A	TCGA-BR-A4IV-01A-31D-A25D-08	1925103	158435617	90815004	3	74885											
SPTA1	6708	broad.mit.edu	37	chr1	158622374	158622374	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgcctcataggccaaTaaaaattcattataacgttg	5	10	3	0			TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr1:158622374T>A	uc001fst.1	-	23	3457	c.3258A>T	c.(3256-3258)TTA>TTT	p.L1086F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1086	Spectrin 11.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CATAGGCCAATAAAAATTCAT	0.438													A	158622374	T	A	158622374	3	1	118	1	0	0	0	0	1	0	0	0	15115	1403	49	5	4121	5	SPTA1	1	158622374	Missense_Mutation	SNP	T	TCGA-BR-A4IV-01A-31D-A25D-08	186757	158622374	90628247	4	74886											
REN	5972	broad.mit.edu	37	chr1	204124212	204124212	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtagaactttcggatgaAggtggcccccagggcccagg	15	10	0	2			TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr1:204124212A>T	uc001haq.2	-	10	1197	c.1153T>A	c.(1153-1155)TTC>ATC	p.F385I	ETNK2_uc001hao.3_5'Flank|ETNK2_uc001han.3_5'Flank|ETNK2_uc010pqs.1_5'Flank|ETNK2_uc010pqt.1_5'Flank	NM_000537	NP_000528	P00797	RENI_HUMAN	renin preproprotein	385					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			skin(3)|central_nervous_system(1)	4	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TTTCGGATGAAGGTGGCCCCC	0.607													T	204124212	A	T	204124212	3	4	118	1	0	0	0	0	1	0	0	0	13224	72	3	5	71	5	REN	1	204124212	Missense_Mutation	SNP	A	TCGA-BR-A4IV-01A-31D-A25D-08	45501838	204124212	45126409	5	74887											
TTN	7273	broad.mit.edu	37	chr2	179613105	179613105	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttgactggaagaaatttcTtgactggcaaatacattatt	7	6	2	3			TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr2:179613105T>A	uc002unb.2	-	46	14246	c.14022A>T	c.(14020-14022)CAA>CAT	p.Q4674H	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGAAATTTCTTGACTGGCAA	0.328													A	179613105	T	A	179613105	3	1	118	1	0	0	0	0	1	0	0	0	16732	1606	56	5	96275	5	TTN	2	179613105	Missense_Mutation	SNP	T	TCGA-BR-A4IV-01A-31D-A25D-08		179613105	63586268	6	74888											
PDCD1	5133	broad.mit.edu	37	chr2	242794903	242794903	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgtggaagtcacgcccGttgggcagttgtgtgacacg	14	10	2	1	rs55637807		TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr2:242794903G>A	uc002wcq.3	-	2	374	c.306C>T	c.(304-306)AAC>AAT	p.N102N	PDCD1_uc010fzs.2_Silent_p.N33N|PDCD1_uc010fzt.2_Intron	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	programmed cell death 1 precursor	102	Ig-like V-type.|Extracellular (Potential).				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			ovary(1)	1		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		AGTCACGCCCGTTGGGCAGTT	0.672													A	242794903	G	A	242794903	2	1	118	1	0	0	0	0	0	0	0	1	11615	1136	40	1		1	PDCD1	2	242794903	Silent	SNP	G	TCGA-BR-A4IV-01A-31D-A25D-08	63181798	242794903	404470	7	74889											
RHOA	387	broad.mit.edu	37	chr3	49405959	49405959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cataatcttcctgcccagctGtgtcccacaaagccaactct	5	16	2	0			TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr3:49405959G>T	uc003cwu.2	-	3	455	c.179C>A	c.(178-180)ACA>AAA	p.T60K	RHOA_uc010hku.2_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	60	GTP (By similarity).				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	CTGCCCAGCTGTGTCCCACAA	0.468													T	49405959	G	T	49405959	3	4	118	1	0	0	0	0	1	0	0	0	13331	1377	48	5	414	5	RHOA	3	49405959	Missense_Mutation	SNP	G	TCGA-BR-A4IV-01A-31D-A25D-08		49405959	148616471	8	74890											
PIK3CA	5290	broad.mit.edu	37	chr3	178916922	178916927	+	In_Frame_Del	DEL	ACCAGT	ACCAGT	-													ccctttttaaaagtaattgaAccagtaggcaaccgtgaaga							TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr3:178916921_178916926AACCAGT>A	uc003fjk.3	+	1	465_470	c.308_313AACCAGT>A	c.(307-315)gaaccagta>gAta	p.103_105EPV>D		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	103	PI3K-ABD.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.P104L(2)|p.P104R(2)|p.P104_G106>R(2)|p.E103_G106>D(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AAAGTAATTGAACCAGTAGGCAACCG	0.35		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			-	178916927	ACCAGT	-	178916922	7	5	118	1	0	1	0	1	0	0	0	0	11913	40	2	0	311	0	PIK3CA	3	178916922	In_Frame_Del	DEL	ACCAGT	TCGA-BR-A4IV-01A-31D-A25D-08	129510963	178916922	19105508	9	74891											
SLIT2	9353	broad.mit.edu	37	chr4	20618693	20618693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcctggctgtgagccatgCcacaagaaggtgtgtgccca	13	11	0	2			TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr4:20618693C>T	uc003gpr.1	+	35	4212	c.4008C>T	c.(4006-4008)TGC>TGT	p.C1336C	SLIT2_uc003gps.1_Silent_p.C1328C	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1336	EGF-like 7.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						GTGAGCCATGCCACAAGAAGG	0.592													T	20618693	C	T	20618693	2	4	118	1	0	0	0	0	0	0	0	1	14740	747	26	2		2	SLIT2	4	20618693	Silent	SNP	C	TCGA-BR-A4IV-01A-31D-A25D-08		20618693	170535583	10	74892											
PCDHA3	56145	broad.mit.edu	37	chr5	140182645	140182645	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accggcggtgcgcgcatcccGtttcgcgtggggctgtacac	15	14	0	0			TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr5:140182645G>A	uc003lhf.2	+	1	1863	c.1863G>A	c.(1861-1863)CCG>CCA	p.P621P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.P621P	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	621	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCATCCCGTTTCGCGTGG	0.667													A	140182645	G	A	140182645	2	1	118	1	0	0	0	0	0	0	0	1	11525	1132	40	1		1	PCDHA3	5	140182645	Silent	SNP	G	TCGA-BR-A4IV-01A-31D-A25D-08		140182645	40732615	11	74893											
DNAH11	8701	broad.mit.edu	37	chr7	21908603	21908603	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggaggacactgggtcatCctccaagtgagtattaagtt	11	7	1	1			TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr7:21908603C>T	uc003svc.2	+	74	12013	c.11982C>T	c.(11980-11982)ATC>ATT	p.I3994I		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3994	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						ACTGGGTCATCCTCCAAGTGA	0.527									Kartagener_syndrome				T	21908603	C	T	21908603	2	4	118	1	0	0	0	0	0	0	0	1	4599	845	30	4		4	DNAH11	7	21908603	Silent	SNP	C	TCGA-BR-A4IV-01A-31D-A25D-08		21908603	137230060	12	74894											
TXNDC3	51314	broad.mit.edu	37	chr7	37927910	37927910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttgcgatggacagtttgCcggtcaaccagttgtatggc	13	8	1	0			TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr7:37927910C>T	uc003tfn.2	+	15	1651	c.1279C>T	c.(1279-1281)CCG>TCG	p.P427S		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	427	NDK 2.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						GGACAGTTTGCCGGTCAACCA	0.368									Kartagener_syndrome				T	37927910	C	T	37927910	3	4	118	1	0	0	0	0	1	0	0	0	16795	739	26	2	1329	2	TXNDC3	7	37927910	Missense_Mutation	SNP	C	TCGA-BR-A4IV-01A-31D-A25D-08	16019307	37927910	121210753	13	74895											
POM121L12	285877	broad.mit.edu	37	chr7	53104090	53104090	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagccgagcctcggcccCtggagcctcagtttttgtga	12	13	1	2			TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr7:53104090C>A	uc003tpz.2	+	1	742	c.726C>A	c.(724-726)CCC>CCA	p.P242P		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	242											0						GCCTCGGCCCCTGGAGCCTCA	0.647													A	53104090	C	A	53104090	2	1	118	1	0	0	0	0	0	0	0	1	12241	668	24	5		5	POM121L12	7	53104090	Silent	SNP	C	TCGA-BR-A4IV-01A-31D-A25D-08	15176180	53104090	106034573	14	74896											
CA8	767	broad.mit.edu	37	chr8	61192405	61192405	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ataggagactggtattccccAttagcatcaggaaacaccag	9	10	1	1			TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr8:61192405A>T	uc003xtz.1	-	2	383	c.135T>A	c.(133-135)AAT>AAA	p.N45K	CA8_uc003xua.1_Missense_Mutation_p.N45K|CA8_uc003xub.2_Missense_Mutation_p.N45K	NM_004056	NP_004047	P35219	CAH8_HUMAN	carbonic anhydrase VIII	45					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				GGTATTCCCCATTAGCATCAG	0.398													T	61192405	A	T	61192405	3	4	118	1	0	0	0	0	1	0	0	0	2523	214	8	5	765	5	CA8	8	61192405	Missense_Mutation	SNP	A	TCGA-BR-A4IV-01A-31D-A25D-08		61192405	85171617	15	74897											
HAS2	3037	broad.mit.edu	37	chr8	122627197	122627197	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacacacccaaaataagactGacaggccctttctatattaa	4	11	1	2			TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr8:122627197G>A	uc003yph.2	-	4	1349	c.811C>T	c.(811-813)CAG>TAG	p.Q271*		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	271	Cytoplasmic (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AAATAAGACTGACAGGCCCTT	0.383													A	122627197	G	A	122627197	4	1	118	1	0	0	0	0	0	1	0	0	6962	1299	45	4	851	4	HAS2	8	122627197	Nonsense_Mutation	SNP	G	TCGA-BR-A4IV-01A-31D-A25D-08	61434792	122627197	23736825	16	74898											
DBC1	1620	broad.mit.edu	37	chr9	121930039	121930039	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgatcaccatgtggatgaAgtccatgcggttcttgttgc	12	10	2	1			TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr9:121930039A>C	uc004bkc.2	-	8	2065	c.1609T>G	c.(1609-1611)TTC>GTC	p.F537V		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	537					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						ATGTGGATGAAGTCCATGCGG	0.557													C	121930039	A	C	121930039	3	2	118	1	0	0	0	0	1	0	0	0	4247	72	3	5	680	5	DBC1	9	121930039	Missense_Mutation	SNP	A	TCGA-BR-A4IV-01A-31D-A25D-08		121930039	19283392	17	74899											
TOR2A	27433	broad.mit.edu	37	chr9	130496702	130496702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagctgacataggatttgCcggtgccggtccagccgtgc	16	11	0	1			TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr9:130496702C>T	uc004brs.3	-	2	348	c.293G>A	c.(292-294)GGC>GAC	p.G98D	TOR2A_uc004brt.3_Missense_Mutation_p.G98D|TOR2A_uc004brw.3_Missense_Mutation_p.G98D|TOR2A_uc011maj.1_Intron|TOR2A_uc004bru.3_Intron|TOR2A_uc004brv.3_Intron|TOR2A_uc004brx.1_5'UTR	NM_001085347	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A isoform a	98	ATP (Potential).				chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity				0						ATAGGATTTGCCGGTGCCGGT	0.682											OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	130496702	C	T	130496702	3	4	118	1	0	0	0	0	1	0	0	0	16372	739	26	2	857	2	TOR2A	9	130496702	Missense_Mutation	SNP	C	TCGA-BR-A4IV-01A-31D-A25D-08	8566663	130496702	10716729	18	74900											
TECTA	7007	broad.mit.edu	37	chr11	120996063	120996063	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttagacttggggacagtgaAaatctaccagagtggcatat	11	7	1	3			TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr11:120996063A>C	uc010rzo.1	+	7	1256	c.1256A>C	c.(1255-1257)AAA>ACA	p.K419T		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	419	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGGACAGTGAAAATCTACCAG	0.502													C	120996063	A	C	120996063	3	2	118	1	0	0	0	0	1	0	0	0	15744	14	1	5	1282	5	TECTA	11	120996063	Missense_Mutation	SNP	A	TCGA-BR-A4IV-01A-31D-A25D-08		120996063	14010453	19	74901											
KCNA5	3741	broad.mit.edu	37	chr12	5153813	5153813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgagtacttcttcgaccGcaaccggcccagcttcgacg	10	15	1	0			TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr12:5153813G>A	uc001qni.2	+	1	729	c.500G>A	c.(499-501)CGC>CAC	p.R167H		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	167						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						TTCTTCGACCGCAACCGGCCC	0.657													A	5153813	G	A	5153813	3	1	118	1	0	0	0	0	1	0	0	0	8006	1087	38	1	502	1	KCNA5	12	5153813	Missense_Mutation	SNP	G	TCGA-BR-A4IV-01A-31D-A25D-08		5153813	128698082	20	74902											
DGKA	1606	broad.mit.edu	37	chr12	56346685	56346685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctacagctaaagtcatcacCgaccctgatatcctgaaaac	6	13	2	2	rs150840309	byFrequency	TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr12:56346685C>T	uc001sij.2	+	21	2175	c.1911C>T	c.(1909-1911)ACC>ACT	p.T637T	DGKA_uc009zod.1_Silent_p.T556T|DGKA_uc001sik.2_Silent_p.T637T|DGKA_uc001sil.2_Silent_p.T637T|DGKA_uc001sim.2_Silent_p.T637T|DGKA_uc001sin.2_Silent_p.T637T|DGKA_uc009zof.2_Silent_p.T283T|DGKA_uc001sio.2_Silent_p.T379T	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	637					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	AAGTCATCACCGACCCTGATA	0.552													T	56346685	C	T	56346685	2	4	118	1	0	0	0	0	0	0	0	1	4465	639	23	1		1	DGKA	12	56346685	Silent	SNP	C	TCGA-BR-A4IV-01A-31D-A25D-08	51192872	56346685	77505210	21	74903											
PCK2	5106	broad.mit.edu	37	chr14	24566314	24566314	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctgctggagcagcagggCctcatccgaaagctccccaa	10	16	1	0			TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr14:24566314C>T	uc001wlt.2	+	2	375	c.243C>T	c.(241-243)GGC>GGT	p.G81G	NRL_uc001wlp.2_5'Flank|NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Silent_p.G93G|PCK2_uc001wls.2_Silent_p.G81G|PCK2_uc010tnw.1_Intron|PCK2_uc010ald.2_5'UTR|PCK2_uc010ale.2_5'UTR|PCK2_uc010tnx.1_5'UTR|PCK2_uc001wlu.3_5'UTR	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	81					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)		AGCAGCAGGGCCTCATCCGAA	0.557													T	24566314	C	T	24566314	2	4	118	1	0	0	0	0	0	0	0	1	11582	726	26	2		2	PCK2	14	24566314	Silent	SNP	C	TCGA-BR-A4IV-01A-31D-A25D-08		24566314	82783226	22	74904											
PLEKHG4	25894	broad.mit.edu	37	chr16	67321852	67321852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtggggaacaaggccttccGagacattgctcccagcgagg	14	11	0	1			TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr16:67321852G>A	uc002eso.3	+	18	5690	c.3155G>A	c.(3154-3156)CGA>CAA	p.R1052Q	PLEKHG4_uc002esp.3_Missense_Mutation_p.R859Q|PLEKHG4_uc002esq.3_Missense_Mutation_p.R1052Q|PLEKHG4_uc010cef.2_Missense_Mutation_p.R1052Q|PLEKHG4_uc002ess.3_Missense_Mutation_p.R1052Q|PLEKHG4_uc010ceg.2_Missense_Mutation_p.R971Q	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	1052					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		AAGGCCTTCCGAGACATTGCT	0.587													A	67321852	G	A	67321852	3	1	118	1	0	0	0	0	1	0	0	0	12071	1058	37	1	3225	1	PLEKHG4	16	67321852	Missense_Mutation	SNP	G	TCGA-BR-A4IV-01A-31D-A25D-08		67321852	23032901	23	74905											
CDH1	999	broad.mit.edu	37	chr16	68844172	68844172	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agattttgatcacggtaaccGatcagaatgacaacaagccc	8	10	2	4			TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr16:68844172G>T	uc002ewg.1	+	6	884	c.760G>T	c.(760-762)GAT>TAT	p.D254Y	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.D254Y	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	254	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)|p.D254fs*9(1)|p.D254H(1)|p.D254Y(1)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CACGGTAACCGATCAGAATGA	0.468			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				T	68844172	G	T	68844172	3	4	118	1	0	0	0	0	1	0	0	0	3095	1058	37	5	782	5	CDH1	16	68844172	Missense_Mutation	SNP	G	TCGA-BR-A4IV-01A-31D-A25D-08	1522320	68844172	21510581	24	74906											
GUCY2D	3000	broad.mit.edu	37	chr17	7907247	7907247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggccgcagaggagctgGgcctgaccgatggctccctg	17	12	0	2			TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr17:7907247G>A	uc002gjt.2	+	3	873	c.799G>A	c.(799-801)GGC>AGC	p.G267S		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	267	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				AGAGGAGCTGGGCCTGACCGA	0.667													A	7907247	G	A	7907247	3	1	118	1	0	0	0	0	1	0	0	0	6897	1232	43	4	805	4	GUCY2D	17	7907247	Missense_Mutation	SNP	G	TCGA-BR-A4IV-01A-31D-A25D-08		7907247	73287963	25	74907											
CATSPERG	57828	broad.mit.edu	37	chr19	38851392	38851392	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtaccttatgaacaacCagaagggccagctggtcaag	12	9	1	2			TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chr19:38851392C>G	uc002oih.3	+	16	1876	c.1789C>G	c.(1789-1791)CAG>GAG	p.Q597E	CATSPERG_uc002oig.3_Missense_Mutation_p.Q557E|CATSPERG_uc002oif.3_Missense_Mutation_p.Q237E|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	597	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						TATGAACAACCAGAAGGGCCA	0.612													G	38851392	C	G	38851392	3	3	118	1	0	0	0	0	1	0	0	0	2692	595	21	5	1847	5	CATSPERG	19	38851392	Missense_Mutation	SNP	C	TCGA-BR-A4IV-01A-31D-A25D-08		38851392	20277591	26	74908											
DDX53	168400	broad.mit.edu	37	chrX	23019989	23019989	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtaatggctgagcaatacaaGttaaatcaacaaaagaggca	9	6	1	2			TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chrX:23019989G>C	uc004daj.2	+	1	1903	c.1815G>C	c.(1813-1815)AAG>AAC	p.K605N		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	605						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			large_intestine(1)|ovary(1)|kidney(1)	3						AGCAATACAAGTTAAATCAAC	0.388													C	23019989	G	C	23019989	3	2	118	1	0	0	0	0	1	0	0	0	4371	1020	36	5	1817	5	DDX53	23	23019989	Missense_Mutation	SNP	G	TCGA-BR-A4IV-01A-31D-A25D-08		23019989	132250571	27	74909											
GNL3L	54552	broad.mit.edu	37	chrX	54578096	54578096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggtgggcaccatcctgcGtaactgcgtccacgtgcaga	13	12	0	2	rs2298284	by1000genomes	TCGA-BR-A4IV-01A-31D-A25D-08	TCGA-BR-A4IV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f063a8-b76c-4c9b-b9fa-aafd37feb4e5	ad1fb261-9956-4218-91ec-10b02a3f9ba5	g.chrX:54578096G>A	uc004dth.1	+	11	1098	c.959G>A	c.(958-960)CGT>CAT	p.R320H	GNL3L_uc004dti.2_RNA	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3	320	G.				ribosome biogenesis	nucleolus	GTP binding			ovary(1)	1						ACCATCCTGCGTAACTGCGTC	0.617													A	54578096	G	A	54578096	3	1	118	1	0	0	0	0	1	0	0	0	6538	1145	40	1	997	1	GNL3L	23	54578096	Missense_Mutation	SNP	G	TCGA-BR-A4IV-01A-31D-A25D-08	31558107	54578096	100692464	28	74910											
NBPF1	55672	broad.mit.edu	37	chr1	16907975	16907975	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgaacatcttcatcctcaTcttcgtcattttctgtaaat	3	11	6	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr1:16907975T>C	uc009vos.1	-	15	2207	c.1319A>G	c.(1318-1320)GAT>GGT	p.D440G	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Missense_Mutation_p.D169G	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	440	NBPF 2.					cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTCATCCTCATCTTCGTCATT	0.433													C	16907975	T	C	16907975	3	2	119	1	0	0	0	0	1	0	0	0	10192	1435	50	3	2165	3	NBPF1	1	16907975	Missense_Mutation	SNP	T	TCGA-BR-A4IY-01A-11D-A25D-08		16907975	232342646	1	74911											
PTAFR	5724	broad.mit.edu	37	chr1	28477276	28477276	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacgttgcacaggaatttgGggagtatccagttgccctgg	13	10	0	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr1:28477276G>T	uc001bpl.2	-	2	384	c.257C>A	c.(256-258)CCC>CAC	p.P86H	PTAFR_uc001bpm.3_Missense_Mutation_p.P86H|PTAFR_uc009vte.2_Missense_Mutation_p.P86H	NM_000952	NP_000943	P25105	PTAFR_HUMAN	platelet-activating factor receptor	86	Extracellular (Potential).				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGAATTTGGGGAGTATCCA	0.507													T	28477276	G	T	28477276	3	4	119	1	0	0	0	0	1	0	0	0	12723	1232	43	5	775	5	PTAFR	1	28477276	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	11569301	28477276	220773345	2	74912											
MARCKSL1	65108	broad.mit.edu	37	chr1	32800283	32800285	+	In_Frame_Del	DEL	TCT	TCT	-													ctgtagcctggggccctgccTcttcttctgaggctgcacta							TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr1:32800283_32800285delTCT	uc001bvd.2	-	2	701_703	c.501_503delAGA	c.(499-504)GAAGAG>GAG	p.167_168EE>E		NM_023009	NP_075385	P49006	MRP_HUMAN	MARCKS-like 1	167_168						plasma membrane	calmodulin binding			ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGGCCCTGCCTCTTCTTCTGAGG	0.665													-	32800285	TCT	-	32800283	7	5	119	1	0	1	0	1	0	0	0	0	9310	1551	54	0	88	0	MARCKSL1	1	32800283	In_Frame_Del	DEL	TCT	TCGA-BR-A4IY-01A-11D-A25D-08	4323007	32800283	216450338	3	74913											
RORC	6097	broad.mit.edu	37	chr1	151785769	151785769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttcaaaaaagaccgtgcGgttgtcagcattgtaggccc	11	11	2	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr1:151785769G>A	uc001ezh.2	-	8	1228	c.1120C>T	c.(1120-1122)CGC>TGC	p.R374C	RORC_uc001ezg.2_Missense_Mutation_p.R353C|RORC_uc010pdo.1_Missense_Mutation_p.R428C|RORC_uc010pdp.1_Missense_Mutation_p.R374C	NM_005060	NP_005051	P51449	RORG_HUMAN	RAR-related orphan receptor C isoform a	374	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGACCGTGCGGTTGTCAGCA	0.557													A	151785769	G	A	151785769	3	1	119	1	0	0	0	0	1	0	0	0	13530	1116	39	1	452	1	RORC	1	151785769	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	118985486	151785769	97464852	4	74914											
GBA	2629	broad.mit.edu	37	chr1	155209829	155209829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattgcagacacacaccaccGagctgtagccgaagctttta	8	13	0	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr1:155209829G>A	uc001fjh.2	-	3	305	c.155C>T	c.(154-156)TCG>TTG	p.S52L	RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Intron|GBA_uc010pfx.1_Missense_Mutation_p.S52L|GBA_uc001fji.2_Missense_Mutation_p.S52L|GBA_uc001fjj.2_Missense_Mutation_p.S52L|GBA_uc001fjk.2_Missense_Mutation_p.S52L|GBA_uc001fjl.2_Missense_Mutation_p.S52L|GBA_uc010pfy.1_5'UTR|GBA_uc009wqk.1_Intron	NM_000157	NP_000148	P04062	GLCM_HUMAN	glucocerebrosidase precursor	52					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			ovary(1)|skin(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	ACACACCACCGAGCTGTAGCC	0.567									Gaucher_disease_type_I				A	155209829	G	A	155209829	3	1	119	1	0	0	0	0	1	0	0	0	6266	1059	37	1	1491	1	GBA	1	155209829	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	3424060	155209829	94040792	5	74915											
PAPPA2	60676	broad.mit.edu	37	chr1	176525566	176525566	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cgcaagaaatccttggttgaGagggaacacctgaatcaggt	12	8	1	3			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr1:176525566G>C	uc001gkz.2	+	2	1272	c.108G>C	c.(106-108)GAG>GAC	p.E36D	PAPPA2_uc001gky.1_Missense_Mutation_p.E36D|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	36					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						CCTTGGTTGAGAGGGAACACC	0.532													C	176525566	G	C	176525566	3	2	119	1	0	0	0	0	1	0	0	0	11433	933	33	5	110	5	PAPPA2	1	176525566	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	21315737	176525566	72725055	6	74916											
HMCN1	83872	broad.mit.edu	37	chr1	186099205	186099205	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaacagcgttggctttgtgAaggcaattggatttgtttat	12	4	0	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr1:186099205A>T	uc001grq.1	+	84	13241	c.13012A>T	c.(13012-13014)AAG>TAG	p.K4338*	HMCN1_uc001grs.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4338	Ig-like C2-type 42.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TGGCTTTGTGAAGGCAATTGG	0.363													T	186099205	A	T	186099205	4	4	119	1	0	0	0	0	0	1	0	0	7220	247	9	5	13346	5	HMCN1	1	186099205	Nonsense_Mutation	SNP	A	TCGA-BR-A4IY-01A-11D-A25D-08	9573639	186099205	63151416	7	74917											
TROVE2	6738	broad.mit.edu	37	chr1	193038590	193038590	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagtttaagaaagatctgAaggaaagcatgaaatgtggc	11	5	1	4			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr1:193038590A>C	uc001gss.2	+	2	581	c.406A>C	c.(406-408)AAG>CAG	p.K136Q	TROVE2_uc001gst.1_Intron|TROVE2_uc001gsu.1_Intron|TROVE2_uc001gsv.1_Missense_Mutation_p.K136Q|TROVE2_uc001gsw.2_Missense_Mutation_p.K136Q|TROVE2_uc009wyp.2_Missense_Mutation_p.K136Q|TROVE2_uc009wyq.2_Missense_Mutation_p.K136Q|TROVE2_uc001gsx.1_Missense_Mutation_p.K136Q	NM_004600	NP_004591	P10155	RO60_HUMAN	TROVE domain family, member 2 isoform 2	136	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding				0						GAAAGATCTGAAGGAAAGCAT	0.463													C	193038590	A	C	193038590	3	2	119	1	0	0	0	0	1	0	0	0	16573	247	9	5	408	5	TROVE2	1	193038590	Missense_Mutation	SNP	A	TCGA-BR-A4IY-01A-11D-A25D-08	6939385	193038590	56212031	8	74918											
RABIF	5877	broad.mit.edu	37	chr1	202850310	202850310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccgtcaggattgctgccGtcagacagagctggcttctt	12	12	3	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr1:202850310G>A	uc001gyl.2	-	2	205	c.168C>T	c.(166-168)GAC>GAT	p.D56D		NM_002871	NP_002862	P47224	MSS4_HUMAN	RAB-interacting factor	56					cellular membrane fusion|protein transport|small GTPase mediated signal transduction		guanyl-nucleotide exchange factor activity|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(75;0.166)			GATTGCTGCCGTCAGACAGAG	0.507													A	202850310	G	A	202850310	2	1	119	1	0	0	0	0	0	0	0	1	12969	1136	40	1		1	RABIF	1	202850310	Silent	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	9811720	202850310	46400311	9	74919											
KCTD3	51133	broad.mit.edu	37	chr1	215793440	215793440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccacccatgaagcagctaCttacggttccatgaggcctt	8	13	0	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr1:215793440C>T	uc001hks.2	+	18	2222	c.1928C>T	c.(1927-1929)ACT>ATT	p.T643I	KCTD3_uc001hkt.2_Missense_Mutation_p.T641I|KCTD3_uc010pub.1_Missense_Mutation_p.T541I|KCTD3_uc009xdn.2_Missense_Mutation_p.T367I	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	643						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GAAGCAGCTACTTACGGTTCC	0.413													T	215793440	C	T	215793440	3	4	119	1	0	0	0	0	1	0	0	0	8110	565	20	4	1998	4	KCTD3	1	215793440	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	12943130	215793440	33457181	10	74920											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220335565	220335565	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccattaagtatgtagcagcaGaaaatcttttaactaagaac	6	7	1	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr1:220335565G>C	uc010puk.1	-	28	3364	c.3200C>G	c.(3199-3201)TCT>TGT	p.S1067C	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.S647C|RAB3GAP2_uc001hmh.2_Missense_Mutation_p.S11C	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	1067					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)		TGTAGCAGCAGAAAATCTTTT	0.289													C	220335565	G	C	220335565	3	2	119	1	0	0	0	0	1	0	0	0	12936	942	33	5	1013	5	RAB3GAP2	1	220335565	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	4542125	220335565	28915056	11	74921											
TRIM17	51127	broad.mit.edu	37	chr1	228598776	228598776	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcagtctcctcttcttcCgtctccagagcctggaggag	11	14	4	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr1:228598776C>T	uc001hsu.2	-	4	1012	c.627G>A	c.(625-627)ACG>ACA	p.T209T	TRIM17_uc001hsv.2_Silent_p.T209T|TRIM17_uc001hsw.2_Silent_p.T182T|TRIM17_uc009xfb.2_Silent_p.T209T	NM_016102	NP_057186	Q9Y577	TRI17_HUMAN	tripartite motif-containing 17 isoform 1	209	Potential.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Prostate(94;0.0724)				CCTCTTCTTCCGTCTCCAGAG	0.612													T	228598776	C	T	228598776	2	4	119	1	0	0	0	0	0	0	0	1	16490	639	23	1		1	TRIM17	1	228598776	Silent	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	8263211	228598776	20651845	12	74922											
C2orf39	92749	broad.mit.edu	37	chr2	26676341	26676341	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaagaggaggagaccccaCcctccccctgggtcatccac	10	16	1	3			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr2:26676341C>A	uc002rhg.2	+	14	1917	c.1843C>A	c.(1843-1845)CCC>ACC	p.P615T		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	615											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ggagACCCCACCCTCCCCCTG	0.358													A	26676341	C	A	26676341	3	1	119	1	0	0	0	0	1	0	0	0	2164	507	18	5	1897	5	C2orf39	2	26676341	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08		26676341	216523032	13	74923											
SNX17	9784	broad.mit.edu	37	chr2	27595528	27595529	+	Frame_Shift_Ins	INS	-	-	C													ccaatgtgcttcctgcattcINScccccaaagaagcttttctc							TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr2:27595527_27595528T>TC	uc002rkg.1	+	2	398_399	c.176_177T>TC	c.(175-177)ttcfs	p.F59fs	EIF2B4_uc002rjz.3_5'Flank|EIF2B4_uc002rka.3_5'Flank|EIF2B4_uc002rkb.3_5'Flank|EIF2B4_uc002rkc.3_5'Flank|EIF2B4_uc002rke.3_5'Flank|EIF2B4_uc002rkf.1_5'Flank|SNX17_uc010ylj.1_Frame_Shift_Ins_p.F39fs|SNX17_uc002rki.1_Intron|SNX17_uc002rkh.1_5'UTR|SNX17_uc010yll.1_5'UTR|SNX17_uc010ylm.1_Intron|SNX17_uc010yln.1_Frame_Shift_Ins_p.F47fs|SNX17_uc010ylo.1_5'UTR|SNX17_uc010ylp.1_Frame_Shift_Ins_p.F34fs|SNX17_uc010ylk.1_Intron|SNX17_uc010eza.1_Intron|SNX17_uc010ylq.1_5'UTR	NM_014748	NP_055563	Q15036	SNX17_HUMAN	Homo sapiens sorting nexin 17 (SNX17), mRNA.	59	PX.				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	Golgi apparatus|cytoplasmic vesicle membrane|cytosol|early endosome	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCCTGCATTCCCCCCAAAGA	0.455													C	27595529	-	C	27595528	7	5	119	1	0	1	1	0	0	0	0	0	14888	854	30	0	187	0	SNX17	2	27595528	Frame_Shift_Ins	INS	-	TCGA-BR-A4IY-01A-11D-A25D-08	919187	27595528	215603845	14	74924											
EIF2AK2	5610	broad.mit.edu	37	chr2	37364140	37364140	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcacctttttgccttcctTtgattatttctgagaccatt	4	11	2	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr2:37364140T>C	uc010ynh.1	-	9	1265	c.708A>G	c.(706-708)CAA>CAG	p.Q236Q	EIF2AK2_uc010fab.1_Silent_p.Q236Q|EIF2AK2_uc010yng.1_Silent_p.Q236Q|EIF2AK2_uc010fac.2_Silent_p.Q236Q|EIF2AK2_uc010fad.2_Silent_p.Q236Q	NM_002759	NP_002750	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha	236					evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			ovary(2)|lung(2)|pancreas(1)	5		all_hematologic(82;0.248)				TTGCCTTCCTTTGATTATTTC	0.303													C	37364140	T	C	37364140	2	2	119	1	0	0	0	0	0	0	0	1	4997	1838	64	3		3	EIF2AK2	2	37364140	Silent	SNP	T	TCGA-BR-A4IY-01A-11D-A25D-08	9768612	37364140	205835233	15	74925											
NRXN1	9378	broad.mit.edu	37	chr2	50780157	50780158	+	Missense_Mutation	DNP	AT	AT	TA													cctcacatcattatttttatAtacaacctgtgggcagagga							TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr2:50780157_50780158AT>TA	uc010fbq.2	-	9	2923_2924	c.1446_1447AT>TA	c.(1444-1449)GTATAT>GTTAAT	p.Y483N	NRXN1_uc002rxb.3_Missense_Mutation_p.Y115N|NRXN1_uc002rxe.3_Missense_Mutation_p.Y443N|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTATTTTTATATACAACCTGTG	0.381													TA	50780158	AT	TA	50780157	3	4	119	1	0	0	0	0	1	0	0	0	10665	449	16	5	3519	5	NRXN1	2	50780157	Missense_Mutation	DNP	AT	TCGA-BR-A4IY-01A-11D-A25D-08	13416017	50780157	192419216	16	74926											
DCTN1	1639	broad.mit.edu	37	chr2	74596550	74596550	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgcctgccatgtccagctgCtcccgcagctccagttctgt	10	17	1	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr2:74596550C>A	uc002skx.2	-	14	1772	c.1461G>T	c.(1459-1461)GAG>GAT	p.E487D	DCTN1_uc002skv.2_Missense_Mutation_p.E353D|DCTN1_uc002sku.2_Missense_Mutation_p.E353D|DCTN1_uc002skw.1_Missense_Mutation_p.E463D|DCTN1_uc010ffd.2_Missense_Mutation_p.E467D|DCTN1_uc002sky.2_Missense_Mutation_p.E450D	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	487	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						TGTCCAGCTGCTCCCGCAGCT	0.572													A	74596550	C	A	74596550	3	1	119	1	0	0	0	0	1	0	0	0	4306	796	28	5	2451	5	DCTN1	2	74596550	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	23816393	74596550	168602823	17	74927											
HOXD4	3233	broad.mit.edu	37	chr2	177016412	177016412	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aagtatgtggaccccaagttCcctccgtgcgaggagtattt	11	10	0	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr2:177016412C>A	uc002uks.2	+	1	300	c.51C>A	c.(49-51)TTC>TTA	p.F17L		NM_014621	NP_055436	P09016	HXD4_HUMAN	homeobox D4	17						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		ACCCCAAGTTCCCTCCGTGCG	0.542													A	177016412	C	A	177016412	3	1	119	1	0	0	0	0	1	0	0	0	7324	854	30	5	53	5	HOXD4	2	177016412	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	102419862	177016412	66182961	18	74928											
TTN	7273	broad.mit.edu	37	chr2	179444392	179444392	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcccttcagtcaaatctTttgcagagtactgtaggctt	7	11	3	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr2:179444392T>C	uc010zfg.1	-	268	60052	c.59828A>G	c.(59827-59829)AAA>AGA	p.K19943R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K13638R|TTN_uc010zfi.1_Missense_Mutation_p.K13571R|TTN_uc010zfj.1_Missense_Mutation_p.K13446R|uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20870							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTCAAATCTTTTGCAGAGTA	0.413													C	179444392	T	C	179444392	3	2	119	1	0	0	0	0	1	0	0	0	16732	1841	64	3	40623	3	TTN	2	179444392	Missense_Mutation	SNP	T	TCGA-BR-A4IY-01A-11D-A25D-08	2427980	179444392	63754981	19	74929											
MFSD6	54842	broad.mit.edu	37	chr2	191364829	191364846	+	In_Frame_Del	DEL	CATCCCCTGACGCAGCAG	CATCCCCTGACGCAGCAG	-													tgacccatctagaaaccagcCatcccctgacgcagcagcat					rs150227947	byFrequency	TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr2:191364828_191364845CCATCCCCTGACGCAGCAG>C	uc002urz.2	+	7	2584_2601	c.2260_2277CCATCCCCTGACGCAGCAG>C	c.(2260-2277)ccatcccctgacgcagca>C	p.PSPDAA754del	MFSD6_uc010zge.1_In_Frame_Del_p.PSPDAA216del	NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.	754					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TAGAAACCAGCCATCCCCTGACGCAGCAGCATCTCAGA	0.587													-	191364846	CATCCCCTGACGCAGCAG	-	191364829	7	5	119	1	0	1	0	1	0	0	0	0	9535	594	21	0	2283	0	MFSD6	2	191364829	In_Frame_Del	DEL	CATCCCCTGACGCAGCAG	TCGA-BR-A4IY-01A-11D-A25D-08	11920437	191364829	51834544	20	74930											
DNAH7	56171	broad.mit.edu	37	chr2	196749505	196749505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtacaagaagcaccaacgGaccagatcaatgaaaacaga	8	10	1	4			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr2:196749505G>A	uc002utj.3	-	35	5668	c.5567C>T	c.(5566-5568)TCC>TTC	p.S1856F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1856					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						AGCACCAACGGACCAGATCAA	0.338													A	196749505	G	A	196749505	3	1	119	1	0	0	0	0	1	0	0	0	4606	1174	41	4	6631	4	DNAH7	2	196749505	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	5384676	196749505	46449868	21	74931											
EPHA4	2043	broad.mit.edu	37	chr2	222428528	222428528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaccagccattcaccatctGccccacagtacatttttggc	6	15	2	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr2:222428528G>A	uc002vmq.2	-	3	788	c.746C>T	c.(745-747)GCA>GTA	p.A249V	EPHA4_uc002vmr.2_Missense_Mutation_p.A249V|EPHA4_uc010zlm.1_Missense_Mutation_p.A190V|EPHA4_uc010zln.1_Missense_Mutation_p.A249V	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	249	Cys-rich.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTCACCATCTGCCCCACAGTA	0.527													A	222428528	G	A	222428528	3	1	119	1	0	0	0	0	1	0	0	0	5169	1319	46	2	2274	2	EPHA4	2	222428528	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	25679023	222428528	20770845	22	74932											
RPUSD3	285367	broad.mit.edu	37	chr3	9882475	9882475	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacagctggagaggagtacaAgcccagagctttctctggaa	13	9	1	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr3:9882475A>T	uc011atk.1	-	5	426	c.422T>A	c.(421-423)CTT>CAT	p.L141H	ARPC4_uc003btc.1_Intron|RPUSD3_uc011atl.1_Missense_Mutation_p.L126H|RPUSD3_uc011atm.1_Missense_Mutation_p.L133H|RPUSD3_uc003btn.2_3'UTR	NM_173659	NP_775930	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	141					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			central_nervous_system(1)	1	Medulloblastoma(99;0.227)					GAGGAGTACAAGCCCAGAGCT	0.517													T	9882475	A	T	9882475	3	4	119	1	0	0	0	0	1	0	0	0	13668	72	3	5	653	5	RPUSD3	3	9882475	Missense_Mutation	SNP	A	TCGA-BR-A4IY-01A-11D-A25D-08		9882475	188139955	23	74933											
FYCO1	79443	broad.mit.edu	37	chr3	46009092	46009092	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggcctcttgcagactggaGttcacagggaccagggcctc	13	13	2	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr3:46009092G>C	uc003cpb.3	-	8	1940	c.1734C>G	c.(1732-1734)AAC>AAG	p.N578K	FYCO1_uc011bal.1_Missense_Mutation_p.N578K	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	578					transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCAGACTGGAGTTCACAGGGA	0.637													C	46009092	G	C	46009092	3	2	119	1	0	0	0	0	1	0	0	0	6125	1020	36	5	2746	5	FYCO1	3	46009092	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	36126617	46009092	152013338	24	74934											
RNF123	63891	broad.mit.edu	37	chr3	49742159	49742159	+	Frame_Shift_Del	DEL	G	G	-													gccatggatgacctagatgaGgatgaggagccagccccagc							TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr3:49742159delG	uc003cxh.2	+	22	2015	c.1929delG	c.(1927-1929)GAGfs	p.E643fs	RNF123_uc010hky.1_Frame_Shift_Del_p.E305fs|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	643						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ACCTAGATGAGGATGAGGAGC	0.577													-	49742159	G	-	49742159	7	5	119	1	0	1	0	1	0	0	0	0	13433	991	35	0	2011	0	RNF123	3	49742159	Frame_Shift_Del	DEL	G	TCGA-BR-A4IY-01A-11D-A25D-08	3733067	49742159	148280271	25	74935											
MON1A	84315	broad.mit.edu	37	chr3	49949401	49949401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgactcagtcaggtcctcGtaggaacgggcatggacgaa	13	10	3	1	rs149740587		TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr3:49949401G>A	uc003cxz.2	-	3	588	c.462C>T	c.(460-462)TAC>TAT	p.Y154Y	MON1A_uc003cya.2_Intron|MON1A_uc003cyb.2_Intron	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	MON1 homolog A isoform a	57							protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCAGGTCCTCGTAGGAACGGG	0.622													A	49949401	G	A	49949401	2	1	119	1	0	0	0	0	0	0	0	1	9698	1140	40	1		1	MON1A	3	49949401	Silent	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	207242	49949401	148073029	26	74936											
DOCK3	1795	broad.mit.edu	37	chr3	51308381	51308381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattgggcagtcaatggacGtggtcaagctgcagtccatt	12	9	2	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr3:51308381G>A	uc011bds.1	+	24	2514	c.2491G>A	c.(2491-2493)GTG>ATG	p.V831M		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	831						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTCAATGGACGTGGTCAAGCT	0.537													A	51308381	G	A	51308381	3	1	119	1	0	0	0	0	1	0	0	0	4688	1145	40	1	2585	1	DOCK3	3	51308381	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	1358980	51308381	146714049	27	74937											
ATP2C1	27032	broad.mit.edu	37	chr3	130656284	130656284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttaggcaatacttatcGttgttacagttgcctttgtt	8	6	0	0	rs142366167		TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr3:130656284G>A	uc003enl.2	+	6	559	c.337G>A	c.(337-339)GTT>ATT	p.V113I	ATP2C1_uc011blg.1_Missense_Mutation_p.V147I|ATP2C1_uc011blh.1_Missense_Mutation_p.V108I|ATP2C1_uc011bli.1_Missense_Mutation_p.V147I|ATP2C1_uc003enk.2_Missense_Mutation_p.V97I|ATP2C1_uc003enm.2_Missense_Mutation_p.V113I|ATP2C1_uc003enn.2_Missense_Mutation_p.V97I|ATP2C1_uc003eno.2_Missense_Mutation_p.V113I|ATP2C1_uc003enp.2_Missense_Mutation_p.V113I|ATP2C1_uc003enq.2_Missense_Mutation_p.V113I|ATP2C1_uc003enr.2_Missense_Mutation_p.V113I|ATP2C1_uc003ens.2_Missense_Mutation_p.V113I|ATP2C1_uc003ent.2_Missense_Mutation_p.V113I	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	113	Helical; Name=2; (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	AATACTTATCGTTGTTACAGT	0.328									Hailey-Hailey_disease				A	130656284	G	A	130656284	3	1	119	1	0	0	0	0	1	0	0	0	1143	1145	40	1	355	1	ATP2C1	3	130656284	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	79347903	130656284	67366146	28	74938											
ATR	545	broad.mit.edu	37	chr3	142297490	142297490	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgggcctagccctacctGcccagctcccgcagggcggg	15	17	0	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr3:142297490G>A	uc003eux.3	-	1	179	c.57C>T	c.(55-57)GGC>GGT	p.G19G		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	19					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						AGCCCTACCTGCCCAGCTCCC	0.662								Other_conserved_DNA_damage_response_genes					A	142297490	G	A	142297490	2	1	119	1	0	0	0	0	0	0	0	1	1204	1306	46	2		2	ATR	3	142297490	Silent	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	11641206	142297490	55724940	29	74939											
ACTL6A	86	broad.mit.edu	37	chr3	179298958	179298958	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaacacaatgttaggagtcAgtcatgttgtcaccacaagt	9	8	3	0	rs34740204	byFrequency	TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr3:179298958A>C	uc003fjw.2	+	11	1149	c.976A>C	c.(976-978)AGT>CGT	p.S326R	ACTL6A_uc003fjx.2_Missense_Mutation_p.S284R|ACTL6A_uc003fjy.2_Missense_Mutation_p.S284R	NM_004301	NP_004292	O96019	ACL6A_HUMAN	actin-like 6A isoform 1	326					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			ovary(1)	1	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			GTTAGGAGTCAGTCATGTTGT	0.398													C	179298958	A	C	179298958	3	2	119	1	0	0	0	0	1	0	0	0	198	188	7	5	1018	5	ACTL6A	3	179298958	Missense_Mutation	SNP	A	TCGA-BR-A4IY-01A-11D-A25D-08	37001468	179298958	18723472	30	74940											
CLDN16	10686	broad.mit.edu	37	chr3	190105886	190105886	+	Translation_Start_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcactgacctgccttctgaTtggaggctggttgcttcgga	13	10	1	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr3:190105886T>A	uc003fsi.2	+	1	46	c.-22T>A	c.(-24--20)GATTG>GAATG		CLDN16_uc010hze.2_Translation_Start_Site	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	claudin 16						calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TGCCTTCTGATTGGAGGCTGG	0.532													A	190105886	T	A	190105886	1	1	119	1	0	0	0	0	0	0	0	0	3477	1508	52	5		5	CLDN16	3	190105886	Translation_Start_Site	SNP	T	TCGA-BR-A4IY-01A-11D-A25D-08	10806928	190105886	7916544	31	74941											
FAM193A	8603	broad.mit.edu	37	chr4	2641518	2641518	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaactgcataataaacacctGtttgaaaatctggtcttttc	6	8	2	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr4:2641518G>C	uc010icl.2	+	4	573	c.222G>C	c.(220-222)CTG>CTC	p.L74L	FAM193A_uc010ick.2_Silent_p.L274L|FAM193A_uc003gfd.2_Silent_p.L74L|FAM193A_uc011bvm.1_Silent_p.L74L|FAM193A_uc011bvn.1_Silent_p.L74L|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	74										ovary(3)	3						ATAAACACCTGTTTGAAAATC	0.398													C	2641518	G	C	2641518	2	2	119	1	0	0	0	0	0	0	0	1	5524	1364	48	5		5	FAM193A	4	2641518	Silent	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08		2641518	188512758	32	74942											
PDS5A	23244	broad.mit.edu	37	chr4	39978195	39978195	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgggctgcgcggtgaagtcCatcctgggggacaacttttg	15	9	0	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr4:39978195C>A	uc003guv.3	-	2	543	c.3G>T	c.(1-3)ATG>ATT	p.M1I	PDS5A_uc010ifo.2_Intron|PDS5A_uc003guw.3_Missense_Mutation_p.M1I	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						CGGTGAAGTCCATCCTGGGGG	0.562											OREG0016159	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	39978195	C	A	39978195	3	1	119	1	0	0	0	0	1	0	0	0	11691	594	21	5	4171	5	PDS5A	4	39978195	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	37336677	39978195	151176081	33	74943											
UGT2B11	10720	broad.mit.edu	37	chr4	70066333	70066333	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caactcgaaggtgtttggctCctttgtggggcatgacaaat	12	8	0	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr4:70066333C>A	uc003heh.2	-	6	1424	c.1415G>T	c.(1414-1416)GGA>GTA	p.G472V	uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family,	472					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						GTGTTTGGCTCCTTTGTGGGG	0.453													A	70066333	C	A	70066333	3	1	119	1	0	0	0	0	1	0	0	0	16954	855	30	5	178	5	UGT2B11	4	70066333	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	30088138	70066333	121087943	34	74944											
ADH6	130	broad.mit.edu	37	chr4	100134789	100134789	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tcactgtgcttactccttctCcaatactctcaacgattcca	3	15	3	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr4:100134789C>G	uc003hup.3	-	3	330	c.236G>C	c.(235-237)GGA>GCA	p.G79A	uc003hum.1_Intron|ADH6_uc003huo.2_Missense_Mutation_p.G79A|ADH6_uc011cef.1_Intron|ADH6_uc010ile.2_Missense_Mutation_p.G79A	NM_000672	NP_000663	P28332	ADH6_HUMAN	class V alcohol dehydrogenase isoform 2	79					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TACTCCTTCTCCAATACTCTC	0.463													G	100134789	C	G	100134789	3	3	119	1	0	0	0	0	1	0	0	0	312	855	30	5	923	5	ADH6	4	100134789	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	30068456	100134789	91019487	35	74945											
KIAA1109	84162	broad.mit.edu	37	chr4	123147962	123147963	+	Missense_Mutation	DNP	GA	GA	TT													agttataatatgtcagcatgGaattgatcgtcggttctgtg							TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr4:123147962_123147963GA>TT	uc003ieh.2	+	22	2939_2940	c.2894_2895GA>TT	c.(2893-2895)GGA>GTT	p.G965V	KIAA1109_uc003iei.1_Missense_Mutation_p.G718V|KIAA1109_uc010ins.1_Missense_Mutation_p.G308V|KIAA1109_uc003iej.1_3'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	965					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TGTCAGCATGGAATTGATCGTC	0.351													TT	123147963	GA	TT	123147962	3	4	119	1	0	0	0	0	1	0	0	0	8208	1174	41	5	2980	5	KIAA1109	4	123147962	Missense_Mutation	DNP	GA	TCGA-BR-A4IY-01A-11D-A25D-08	23013173	123147962	68006314	36	74946											
POU4F2	5458	broad.mit.edu	37	chr4	147561058	147561058	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggatgagagtctgctggccCgcgccgaggctctggcagcc	16	13	2	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr4:147561058C>G	uc003ikv.2	+	2	576	c.328C>G	c.(328-330)CGC>GGC	p.R110G		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	110	POU-IV box.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)	1	all_hematologic(180;0.151)					TCTGCTGGCCCGCGCCGAGGC	0.597													G	147561058	C	G	147561058	3	3	119	1	0	0	0	0	1	0	0	0	12279	652	23	5	334	5	POU4F2	4	147561058	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	24413096	147561058	43593218	37	74947											
TIGD4	201798	broad.mit.edu	37	chr4	153691798	153691798	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaatcattatggcccagtTtctgggcaaaatcattagct	7	8	3	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr4:153691798T>C	uc003imy.2	-	2	1141	c.359A>G	c.(358-360)AAA>AGA	p.K120R		NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	120	HTH CENPB-type.|H-T-H motif (By similarity).				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			ovary(1)	1	all_hematologic(180;0.093)					ATGGCCCAGTTTCTGGGCAAA	0.403													C	153691798	T	C	153691798	3	2	119	1	0	0	0	0	1	0	0	0	15895	1841	64	3	1183	3	TIGD4	4	153691798	Missense_Mutation	SNP	T	TCGA-BR-A4IY-01A-11D-A25D-08	6130740	153691798	37462478	38	74948											
LRP2BP	55805	broad.mit.edu	37	chr4	186299314	186299314	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaggcataaaaggggttcttGggcaacttttcactggtcaa	12	7	3	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr4:186299314G>C	uc003ixj.1	-	1	839	c.27C>G	c.(25-27)CCC>CCG	p.P9P	LRP2BP_uc003ixk.1_5'UTR|LRP2BP_uc011ckr.1_Silent_p.P9P	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	9						cytoplasm	protein binding				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		AGGGGTTCTTGGGCAACTTTT	0.363													C	186299314	G	C	186299314	2	2	119	1	0	0	0	0	0	0	0	1	8957	1335	47	5		5	LRP2BP	4	186299314	Silent	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	32607516	186299314	4854962	39	74949											
SLC6A18	348932	broad.mit.edu	37	chr5	1239618	1239618	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacgcagccacccagatattCttctctctgtccctggcctt	7	16	3	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr5:1239618C>T	uc003jby.1	+	6	909	c.786C>T	c.(784-786)TTC>TTT	p.F262F		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	262	Helical; Name=6; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCCAGATATTCTTCTCTCTGT	0.577													T	1239618	C	T	1239618	2	4	119	1	0	0	0	0	0	0	0	1	14681	912	32	4		4	SLC6A18	5	1239618	Silent	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08		1239618	179675642	40	74950											
ADAMTS16	170690	broad.mit.edu	37	chr5	5186198	5186217	+	Frame_Shift_Del	DEL	TCTTGCCAGATGAGTATAAG	TCTTGCCAGATGAGTATAAG	-													tcccaaggaagacctcttcaTcttgccagatgagtataagt							TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr5:5186197_5186216ATCTTGCCAGATGAGTATAAG>A	uc003jdl.3	+	4	934_953	c.796_815ATCTTGCCAGATGAGTATAAG>A	c.(796-816)atcttgccagatgagtataagfs	p.I266fs	ADAMTS16_uc003jdk.1_Frame_Shift_Del_p.I266fs|ADAMTS16_uc003jdj.1_Frame_Shift_Del_p.I266fs	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	266					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGACCTCTTCATCTTGCCAGATGAGTATAAGTCTTGCTTA	0.491													-	5186217	TCTTGCCAGATGAGTATAAG	-	5186198	7	5	119	1	0	1	0	1	0	0	0	0	261	1435	50	0	815	0	ADAMTS16	5	5186198	Frame_Shift_Del	DEL	TCTTGCCAGATGAGTATAAG	TCGA-BR-A4IY-01A-11D-A25D-08	3946580	5186198	175729062	41	74951											
DNAH5	1767	broad.mit.edu	37	chr5	13944508	13944508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccgttaaaactcgagtgaCgctatgcttccagagctgtc	9	11	0	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr5:13944508C>T	uc003jfd.2	-	1	82	c.40G>A	c.(40-42)GTC>ATC	p.V14I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	14	Stem (By similarity).				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)					ACTCGAGTGACGCTATGCTTC	0.468									Kartagener_syndrome				T	13944508	C	T	13944508	3	4	119	1	0	0	0	0	1	0	0	0	4604	536	19	1	14150	1	DNAH5	5	13944508	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	8758310	13944508	166970752	42	74952											
ITGA1	3672	broad.mit.edu	37	chr5	52204856	52204856	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaaggaaaagtgtatgtGtatgctctcaatcaggtaat	11	5	2	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr5:52204856G>A	uc003jou.2	+	13	1636	c.1584G>A	c.(1582-1584)GTG>GTA	p.V528V	ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Silent_p.V59V	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	528	Extracellular (Potential).|FG-GAP 5.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AAGTGTATGTGTATGCTCTCA	0.378													A	52204856	G	A	52204856	2	1	119	1	0	0	0	0	0	0	0	1	7872	1364	48	4		4	ITGA1	5	52204856	Silent	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	38260348	52204856	128710404	43	74953											
CD180	4064	broad.mit.edu	37	chr5	66479644	66479652	+	In_Frame_Del	DEL	TGGCAGCAC	TGGCAGCAC	-													gtgtgtaagggaggggaaatTggcagcactgatttgacaca					rs142848963		TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr5:66479643_66479651TTGGCAGCAC>T	uc003juy.2	-	2	1168_1176	c.1020_1028GTGCTGCCAA>A	c.(1018-1029)agtgctgccaat>agAt	p.340_343SAAN>R		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	340					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GGAGGGGAAATTGGCAGCACTGATTTGAC	0.44													-	66479652	TGGCAGCAC	-	66479644	7	5	119	1	0	1	0	1	0	0	0	0	2972	1812	63	0	962	0	CD180	5	66479644	In_Frame_Del	DEL	TGGCAGCAC	TCGA-BR-A4IY-01A-11D-A25D-08	14274788	66479644	114435616	44	74954											
VCAN	1462	broad.mit.edu	37	chr5	82816417	82816417	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagagccaacagaagtaagAgatatggaggaagactttac	12	6	0	4			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr5:82816417A>G	uc003kii.3	+	7	2648	c.2292A>G	c.(2290-2292)AGA>AGG	p.R764R	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.R764R|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	764	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CAGAAGTAAGAGATATGGAGG	0.383													G	82816417	A	G	82816417	2	3	119	1	0	0	0	0	0	0	0	1	17135	301	11	3		3	VCAN	5	82816417	Silent	SNP	A	TCGA-BR-A4IY-01A-11D-A25D-08	16336773	82816417	98098843	45	74955											
ATP10B	23120	broad.mit.edu	37	chr5	160033937	160033937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcattcaatgtcttcccatCgatgaccaatccagcttctg	7	13	3	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr5:160033937C>T	uc003lym.1	-	19	3842	c.2995G>A	c.(2995-2997)GAT>AAT	p.D999N	ATP10B_uc010jit.1_Missense_Mutation_p.D316N	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	999	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCTTCCCATCGATGACCAAT	0.517													T	160033937	C	T	160033937	3	4	119	1	0	0	0	0	1	0	0	0	1117	884	31	1	1422	1	ATP10B	5	160033937	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	77217520	160033937	20881323	46	74956											
DTNBP1	84062	broad.mit.edu	37	chr6	15524837	15524837	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcctggtccgatatgtccAtcaggtccatctgctccagc	8	16	2	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr6:15524837A>C	uc003nbm.2	-	9	902	c.731T>G	c.(730-732)ATG>AGG	p.M244R	DTNBP1_uc003nbl.2_Missense_Mutation_p.M163R|DTNBP1_uc003nbn.2_RNA|DTNBP1_uc003nbo.2_RNA|DTNBP1_uc003nbp.2_Missense_Mutation_p.M244R|DTNBP1_uc010jph.2_Missense_Mutation_p.M231R	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1 isoform a	244	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding				0	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			CGATATGTCCATCAGGTCCAT	0.542									Hermansky-Pudlak_syndrome				C	15524837	A	C	15524837	3	2	119	1	0	0	0	0	1	0	0	0	4790	217	8	5	433	5	DTNBP1	6	15524837	Missense_Mutation	SNP	A	TCGA-BR-A4IY-01A-11D-A25D-08		15524837	155590230	47	74957											
HIST1H2BC	8347	broad.mit.edu	37	chr6	26124041	26124041	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactctccttgcggctgcgcTtgcgcttcttgccatctttc	8	15	3	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr6:26124041T>G	uc003ngk.3	-	1	114	c.92A>C	c.(91-93)AAG>ACG	p.K31T	HIST1H2BC_uc003ngl.2_Missense_Mutation_p.K31T|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank	NM_003526	NP_003517	P62807	H2B1C_HUMAN	histone cluster 1, H2bc	31					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1						GCGGCTGCGCTTGCGCTTCTT	0.542													G	26124041	T	G	26124041	3	3	119	1	0	0	0	0	1	0	0	0	7142	1609	56	5	292	5	HIST1H2BC	6	26124041	Missense_Mutation	SNP	T	TCGA-BR-A4IY-01A-11D-A25D-08	10599204	26124041	144991026	48	74958											
GPX6	257202	broad.mit.edu	37	chr6	28478608	28478608	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaactgcttgaattggAtgtactcctcgccgttgagg	11	10	0	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr6:28478608A>G	uc011dlj.1	-	2	211	c.161T>C	c.(160-162)ATC>ACC	p.I54T	GPX6_uc010jrg.1_RNA	NM_182701	NP_874360	P59796	GPX6_HUMAN	glutathione peroxidase 6 precursor	54					response to oxidative stress	extracellular region	glutathione peroxidase activity			ovary(3)|pancreas(1)|skin(1)	5					Glutathione(DB00143)	CTTGAATTGGATGTACTCCTC	0.478													G	28478608	A	G	28478608	3	3	119	1	0	0	0	0	1	0	0	0	6744	333	12	3	520	3	GPX6	6	28478608	Missense_Mutation	SNP	A	TCGA-BR-A4IY-01A-11D-A25D-08	2354567	28478608	142636459	49	74959											
PSMB8	5696	broad.mit.edu	37	chr6	32809961	32809961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagagaggcccatgccccGgtactggcacatcatgttgg	12	12	1	1	rs55835906		TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr6:32809961G>A	uc003oce.2	-	4	530	c.487C>T	c.(487-489)CGG>TGG	p.R163W	PSMB8_uc003ocf.2_Missense_Mutation_p.R159W|PSMB8_uc011dqh.1_3'UTR	NM_148919	NP_683720	P28062	PSB8_HUMAN	proteasome beta 8 subunit isoform E2 proprotein	163					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			skin(1)	1						CCCATGCCCCGGTACTGGCAC	0.537													A	32809961	G	A	32809961	3	1	119	1	0	0	0	0	1	0	0	0	12683	1115	39	1	355	1	PSMB8	6	32809961	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	4331353	32809961	138305106	50	74960											
PACSIN1	29993	broad.mit.edu	37	chr6	34498360	34498360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcccaggctggggaccgcGgcaggtgagtgcctcctgtg	16	13	0	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr6:34498360G>A	uc003ojo.2	+	8	1239	c.1033G>A	c.(1033-1035)GGC>AGC	p.G345S	PACSIN1_uc003ojp.2_Missense_Mutation_p.G345S	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	345					endocytosis		protein kinase activity				0						TGGGGACCGCGGCAGGTGAGT	0.587													A	34498360	G	A	34498360	3	1	119	1	0	0	0	0	1	0	0	0	11374	1116	39	1	1059	1	PACSIN1	6	34498360	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	1688399	34498360	136616707	51	74961											
AARS2	57505	broad.mit.edu	37	chr6	44274230	44274230	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctcccactggaatccagtaCctgggctgagttcctttgca	9	13	1	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr6:44274230C>G	uc010jza.1	-	8	1191	c.1188_splice	c.e8+1	p.Q396_splice	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial						alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	GAATCCAGTACCTGGGCTGAG	0.577													G	44274230	C	G	44274230	5	3	119	1	0	0	0	0	0	0	1	0	20	521	18	5	1828	5	AARS2	6	44274230	Splice_Site	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	9775870	44274230	126840837	52	74962											
CD109	135228	broad.mit.edu	37	chr6	74407197	74407197	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattggggtggagcttctggAacactgcccttcacaggtga	13	9	2	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr6:74407197A>G	uc003php.2	+	2	574	c.149A>G	c.(148-150)GAA>GGA	p.E50G	CD109_uc010kaz.2_Missense_Mutation_p.E50G|CD109_uc003phq.2_Missense_Mutation_p.E50G|CD109_uc010kba.2_Missense_Mutation_p.E50G|uc003pho.1_5'Flank	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	50						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						GAGCTTCTGGAACACTGCCCT	0.522													G	74407197	A	G	74407197	3	3	119	1	0	0	0	0	1	0	0	0	2963	246	9	3	155	3	CD109	6	74407197	Missense_Mutation	SNP	A	TCGA-BR-A4IY-01A-11D-A25D-08	30132967	74407197	96707870	53	74963											
NOX3	50508	broad.mit.edu	37	chr6	155761124	155761124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggctgagaaagaagaCgatgaaaacatggtgtgtgt	15	5	0	4	rs143056669	byFrequency	TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr6:155761124C>T	uc003qqm.2	-	6	737	c.634G>A	c.(634-636)GTC>ATC	p.V212I		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	212	Ferric oxidoreductase.|Helical; (Potential).						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			ovary(1)	1		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AGAAAGAAGACGATGAAAACA	0.468													T	155761124	C	T	155761124	3	4	119	1	0	0	0	0	1	0	0	0	10557	536	19	1	1104	1	NOX3	6	155761124	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	81353927	155761124	15353943	54	74964											
C6orf118	168090	broad.mit.edu	37	chr6	165715558	165715558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcgctcccccttgggccGgtgggcattgggccagtgct	17	14	0	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr6:165715558G>A	uc003qum.3	-	2	289	c.253C>T	c.(253-255)CGG>TGG	p.R85W	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	85											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCCTTGGGCCGGTGGGCATTG	0.652													A	165715558	G	A	165715558	3	1	119	1	0	0	0	0	1	0	0	0	2323	1115	39	1	1188	1	C6orf118	6	165715558	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	9954434	165715558	5399509	55	74965											
C1GALT1	56913	broad.mit.edu	37	chr7	7283186	7283186	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgctctgatcttgcagtttCttttcactatgttgattcta	6	9	5	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr7:7283186C>T	uc010ktn.2	+	4	1143	c.920C>T	c.(919-921)TCT>TTT	p.S307F	C1GALT1_uc003sra.2_Missense_Mutation_p.S307F|uc003srb.1_5'Flank	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN	core 1 synthase,	307	Lumenal (Potential).				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		CTTGCAGTTTCTTTTCACTAT	0.348													T	7283186	C	T	7283186	3	4	119	1	0	0	0	0	1	0	0	0	1952	913	32	4	930	4	C1GALT1	7	7283186	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08		7283186	151855477	56	74966											
DNAH11	8701	broad.mit.edu	37	chr7	21630895	21630895	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctctgattgaagatgagctGagggctattgacgagcagct	13	8	1	6			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr7:21630895G>A	uc003svc.2	+	14	2398	c.2367G>A	c.(2365-2367)CTG>CTA	p.L789L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	789	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AAGATGAGCTGAGGGCTATTG	0.512									Kartagener_syndrome				A	21630895	G	A	21630895	2	1	119	1	0	0	0	0	0	0	0	1	4599	1277	45	4		4	DNAH11	7	21630895	Silent	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	14347709	21630895	137507768	57	74967											
MUC17	140453	broad.mit.edu	37	chr7	100675458	100675458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccatttctgctcaagccaGttcatctcctacaactgctg	6	14	4	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr7:100675458G>A	uc003uxp.1	+	3	814	c.761G>A	c.(760-762)AGT>AAT	p.S254N	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	254	Extracellular (Potential).|59 X approximate tandem repeats.|2.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTCAAGCCAGTTCATCTCCT	0.512													A	100675458	G	A	100675458	3	1	119	1	0	0	0	0	1	0	0	0	9974	1029	36	4	771	4	MUC17	7	100675458	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	79044563	100675458	58463205	58	74968											
CTTNBP2	83992	broad.mit.edu	37	chr7	117400721	117400721	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaccatagttgcttggTtcaatctcacccactgaaat	6	11	3	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr7:117400721T>C	uc003vjf.2	-	10	3032	c.2940A>G	c.(2938-2940)GAA>GAG	p.E980E		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	980										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGTTGCTTGGTTCAATCTCAC	0.338													C	117400721	T	C	117400721	2	2	119	1	0	0	0	0	0	0	0	1	4045	1722	60	3		3	CTTNBP2	7	117400721	Silent	SNP	T	TCGA-BR-A4IY-01A-11D-A25D-08	16725263	117400721	41737942	59	74969											
FAM71F2	346653	broad.mit.edu	37	chr7	128317770	128317770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtccgcttggtgaaaaTtctgcagaaaggcctgtcca	12	10	1	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr7:128317770T>C	uc003vnk.3	+	3	624	c.518T>C	c.(517-519)ATT>ACT	p.I173T	FAM71F2_uc010llm.1_Missense_Mutation_p.I164T|FAM71F2_uc003vnl.2_RNA|FAM71F2_uc010lln.1_RNA	NM_001012454	NP_001012457	Q6NXP2	F71F2_HUMAN	hypothetical protein LOC346653 isoform a	173											0						TTGGTGAAAATTCTGCAGAAA	0.478													C	128317770	T	C	128317770	3	2	119	1	0	0	0	0	1	0	0	0	5613	1493	52	3	528	3	FAM71F2	7	128317770	Missense_Mutation	SNP	T	TCGA-BR-A4IY-01A-11D-A25D-08	10917049	128317770	30820893	60	74970											
PLXNA4	91584	broad.mit.edu	37	chr7	132193205	132193205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtccggccctgtctcatgcGtcaccaagaccttcaggtcg	10	16	3	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr7:132193205G>A	uc003vra.3	-	2	477	c.248C>T	c.(247-249)ACG>ATG	p.T83M	PLXNA4_uc003vrc.2_Missense_Mutation_p.T83M|PLXNA4_uc003vrb.2_Missense_Mutation_p.T83M	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	83	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						TGTCTCATGCGTCACCAAGAC	0.557													A	132193205	G	A	132193205	3	1	119	1	0	0	0	0	1	0	0	0	12122	1145	40	1	5874	1	PLXNA4	7	132193205	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	3875435	132193205	26945458	61	74971											
PTPRN2	5799	broad.mit.edu	37	chr7	157926444	157926445	+	Missense_Mutation	DNP	GC	GC	AA													attgcaggccgtcgctgaggGcctcctgagcacccgctgga							TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr7:157926444_157926445GC>AA	uc003wno.2	-	9	1601_1602	c.1480_1481GC>TT	c.(1480-1482)GCC>TTC	p.A494F	PTPRN2_uc003wnp.2_Missense_Mutation_p.A477F|PTPRN2_uc003wnq.2_Missense_Mutation_p.A494F|PTPRN2_uc003wnr.2_Missense_Mutation_p.A456F|PTPRN2_uc011kwa.1_Missense_Mutation_p.A517F	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	494	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GTCGCTGAGGGCCTCCTGAGCA	0.653													AA	157926445	GC	AA	157926444	3	1	119	1	0	0	0	0	1	0	0	0	12808	1203	42	2	1626	2	PTPRN2	7	157926444	Missense_Mutation	DNP	GC	TCGA-BR-A4IY-01A-11D-A25D-08	25733239	157926444	1212219	62	74972											
CSMD1	64478	broad.mit.edu	37	chr8	2967802	2967802	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggatcggatactcatcaggAaagccaggggagtagatggt	15	6	2	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr8:2967802A>C	uc011kwk.1	-	43	6879	c.6489T>G	c.(6487-6489)TTT>TTG	p.F2163L	CSMD1_uc011kwj.1_Missense_Mutation_p.F1555L|CSMD1_uc010lrg.2_Missense_Mutation_p.F231L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2163	Extracellular (Potential).|CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTCATCAGGAAAGCCAGGGG	0.502													C	2967802	A	C	2967802	3	2	119	1	0	0	0	0	1	0	0	0	3944	243	9	5	4320	5	CSMD1	8	2967802	Missense_Mutation	SNP	A	TCGA-BR-A4IY-01A-11D-A25D-08		2967802	143396220	63	74973											
PRDM14	63978	broad.mit.edu	37	chr8	70980506	70980506	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgtaggtcttcacttcacTggcattgaccactttacctt	6	13	3	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr8:70980506T>C	uc003xym.2	-	4	1073	c.871A>G	c.(871-873)AGT>GGT	p.S291G		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	291	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TTCACTTCACTGGCATTGACC	0.498													C	70980506	T	C	70980506	3	2	119	1	0	0	0	0	1	0	0	0	12455	1580	55	3	864	3	PRDM14	8	70980506	Missense_Mutation	SNP	T	TCGA-BR-A4IY-01A-11D-A25D-08	68012704	70980506	75383516	64	74974											
HEY1	23462	broad.mit.edu	37	chr8	80677768	80677768	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcagcaacagcgggtgcgcGatgtgcgggtgatgtccgaa	18	9	0	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr8:80677768G>A	uc003ybm.2	-	5	770	c.570C>T	c.(568-570)ATC>ATT	p.I190I	HEY1_uc010lzq.2_Silent_p.I71I|HEY1_uc003ybl.2_Silent_p.I194I	NM_012258	NP_036390	Q9Y5J3	HEY1_HUMAN	hairy/enhancer-of-split related with YRPW motif	190					angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding			lung(3)	3	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			GCGGGTGCGCGATGTGCGGGT	0.697											OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	80677768	G	A	80677768	2	1	119	1	0	0	0	0	0	0	0	1	7078	1048	37	1		1	HEY1	8	80677768	Silent	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	9697262	80677768	65686254	65	74975											
PAG1	55824	broad.mit.edu	37	chr8	81897495	81897495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggattctgggcagctccCgactctgatgacattttggt	13	9	2	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr8:81897495C>T	uc003ybz.2	-	7	1103	c.392G>A	c.(391-393)CGG>CAG	p.R131Q		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid	131	Cytoplasmic (Potential).				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity				0	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GGGCAGCTCCCGACTCTGATG	0.587													T	81897495	C	T	81897495	3	4	119	1	0	0	0	0	1	0	0	0	11388	652	23	1	918	1	PAG1	8	81897495	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	1219727	81897495	64466527	66	74976											
PSKH2	85481	broad.mit.edu	37	chr8	87076394	87076394	+	Frame_Shift_Del	DEL	T	T	-													cccacagagtgtcttcattgTccagtcaccactttttttcc							TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr8:87076393_87076393GT>G	uc011lfy.2	-	1	653	c.653_653AC>C	c.(652-654)acafs	p.T218fs		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	218	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TGTCTTCATTGTCCAGTCACC	0.443													-	87076394	T	-	87076394	7	5	119	1	0	1	0	1	0	0	0	0	12665	1667	58	0	511	0	PSKH2	8	87076394	Frame_Shift_Del	DEL	T	TCGA-BR-A4IY-01A-11D-A25D-08	5178899	87076394	59287628	67	74977											
MMP16	4325	broad.mit.edu	37	chr8	89053829	89053829	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacaatagctatggctttcaCagtgctggctgtgttgtcca	11	9	1	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr8:89053829C>A	uc003yeb.3	-	10	1966	c.1684G>T	c.(1684-1686)GTG>TTG	p.V562L		NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	562	Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						ATGGCTTTCACAGTGCTGGCT	0.468													A	89053829	C	A	89053829	3	1	119	1	0	0	0	0	1	0	0	0	9655	478	17	5	143	5	MMP16	8	89053829	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	1977435	89053829	57310193	68	74978											
COL14A1	7373	broad.mit.edu	37	chr8	121344951	121344951	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatcacaggaagcatgggaCcgcaaggcgccctgggacca	15	12	1	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr8:121344951C>A	uc003yox.2	+	42	5027	c.4762C>A	c.(4762-4764)CCG>ACG	p.P1588T	COL14A1_uc003yoz.2_Missense_Mutation_p.P553T	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1588	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGCATGGGACCGCAAGGCGC	0.507													A	121344951	C	A	121344951	3	1	119	1	0	0	0	0	1	0	0	0	3671	507	18	5	4924	5	COL14A1	8	121344951	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	32291122	121344951	25019071	69	74979											
RECQL4	9401	broad.mit.edu	37	chr8	145741513	145741518	+	In_Frame_Del	DEL	AGCCCT	AGCCCT	-													gctgtgccctcagccttcccAgccctagcttgactggaggg							TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr8:145741512_145741517CAGCCCT>C	uc003zdj.3	-	4	1028_1033	c.986_991AGGGCTG>G	c.(985-993)agggctggg>aGgg	p.AG330del	LRRC14_uc003zdk.2_5'Flank|LRRC14_uc003zdl.2_5'Flank|DQ579335_uc022bcp.1_5'Flank	NM_004260	NP_004251	O94761	RECQ4_HUMAN	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.	330					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|bubble DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCAGCCTTCCCAGCCCTAGCTTGACT	0.621			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				-	145741518	AGCCCT	-	145741513	7	5	119	1	0	1	0	1	0	0	0	0	13202	175	7	0	2705	0	RECQL4	8	145741513	In_Frame_Del	DEL	AGCCCT	TCGA-BR-A4IY-01A-11D-A25D-08	24396562	145741513	622509	70	74980											
FAM166B	730112	broad.mit.edu	37	chr9	35563035	35563035	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcctcggcccagacctggCtgcagttcttggcaaagatg	13	12	1	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr9:35563035C>A	uc010mkr.2	-	3	400	c.329G>T	c.(328-330)AGC>ATC	p.S110I	FAM166B_uc011lov.1_Missense_Mutation_p.S110I|FAM166B_uc011low.1_Missense_Mutation_p.S110I|FAM166B_uc003zwy.2_Missense_Mutation_p.S110I	NM_001164310	NP_001157782	A8MTA8	F166B_HUMAN	hypothetical protein LOC730112 isoform 1	110											0						CCAGACCTGGCTGCAGTTCTT	0.537													A	35563035	C	A	35563035	3	1	119	1	0	0	0	0	1	0	0	0	5482	797	28	5	333	5	FAM166B	9	35563035	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08		35563035	105650396	71	74981											
PRUNE2	158471	broad.mit.edu	37	chr9	79326133	79326133	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctggacacctcctgttgaTgacttccttgacaacgagaa	8	12	1	4			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr9:79326133T>C	uc010mpk.2	-	8	1181	c.1057A>G	c.(1057-1059)ATC>GTC	p.I353V		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	353					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						CTCCTGTTGATGACTTCCTTG	0.542													C	79326133	T	C	79326133	3	2	119	1	0	0	0	0	1	0	0	0	12641	1464	51	3	8257	3	PRUNE2	9	79326133	Missense_Mutation	SNP	T	TCGA-BR-A4IY-01A-11D-A25D-08	43763098	79326133	61887298	72	74982											
VPS13A	23230	broad.mit.edu	37	chr9	79865064	79865064	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtgaaacaaggtgaggccAatcttaaagagataatggat	11	4	1	3			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr9:79865064A>C	uc004akr.2	+	21	2349	c.2089A>C	c.(2089-2091)AAT>CAT	p.N697H	VPS13A_uc004akp.3_Missense_Mutation_p.N697H|VPS13A_uc004akq.3_Missense_Mutation_p.N697H|VPS13A_uc004aks.2_Missense_Mutation_p.N697H	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	697					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						AGGTGAGGCCAATCTTAAAGA	0.323													C	79865064	A	C	79865064	3	2	119	1	0	0	0	0	1	0	0	0	17186	130	5	5	2171	5	VPS13A	9	79865064	Missense_Mutation	SNP	A	TCGA-BR-A4IY-01A-11D-A25D-08	538931	79865064	61348367	73	74983											
C9orf84	158401	broad.mit.edu	37	chr9	114464476	114464476	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcataatgatattgtctgAtgccttctcataattcaatt	4	9	4	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr9:114464476A>G	uc004bfr.2	-	21	2941	c.2806T>C	c.(2806-2808)TCA>CCA	p.S936P	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.S897P|C9orf84_uc010mug.2_Missense_Mutation_p.S847P	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	936										ovary(2)	2						ATATTGTCTGATGCCTTCTCA	0.264													G	114464476	A	G	114464476	3	3	119	1	0	0	0	0	1	0	0	0	2500	333	12	3	1552	3	C9orf84	9	114464476	Missense_Mutation	SNP	A	TCGA-BR-A4IY-01A-11D-A25D-08	34599412	114464476	26748955	74	74984											
C9orf84	158401	broad.mit.edu	37	chr9	114500580	114500580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctaattgaagcactttcGtaggcaaaaatatctcaatt	5	7	2	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr9:114500580G>A	uc004bfr.2	-	10	1340	c.1205C>T	c.(1204-1206)ACG>ATG	p.T402M	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfs.1_Missense_Mutation_p.T466M|C9orf84_uc004bfq.2_Missense_Mutation_p.T363M|C9orf84_uc010mug.2_Missense_Mutation_p.T348M	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	402										ovary(2)	2						AAGCACTTTCGTAGGCAAAAA	0.284													A	114500580	G	A	114500580	3	1	119	1	0	0	0	0	1	0	0	0	2500	1145	40	1	3197	1	C9orf84	9	114500580	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	36104	114500580	26712851	75	74985											
ASTN2	23245	broad.mit.edu	37	chr9	119976979	119976979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgctgggcgtacagcgccaCggtgaacaccagcagcagca	13	14	0	1	rs144385545		TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr9:119976979C>T	uc004bjs.1	-	3	774	c.673G>A	c.(673-675)GTG>ATG	p.V225M	ASTN2_uc004bjr.1_Missense_Mutation_p.V225M|ASTN2_uc004bjt.1_Missense_Mutation_p.V225M	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	225	Helical; (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						TACAGCGCCACGGTGAACACC	0.602													T	119976979	C	T	119976979	3	4	119	1	0	0	0	0	1	0	0	0	1065	536	19	1	3505	1	ASTN2	9	119976979	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	5476399	119976979	21236452	76	74986											
RBM18	92400	broad.mit.edu	37	chr9	125023768	125023768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagagttttggtttctgcttCcatcaatgtctatgaaatac	7	7	3	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr9:125023768C>T	uc004bma.2	-	2	170	c.4G>A	c.(4-6)GAA>AAA	p.E2K	RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_RNA	NM_033117	NP_149108	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	2							nucleotide binding|RNA binding				0						GTTTCTGCTTCCATCAATGTC	0.438													T	125023768	C	T	125023768	3	4	119	1	0	0	0	0	1	0	0	0	13120	864	30	4	588	4	RBM18	9	125023768	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	5046789	125023768	16189663	77	74987											
SPTAN1	6709	broad.mit.edu	37	chr9	131381150	131381150	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgtctcctgtaattagGggtcagcggctggaagagtc	13	9	2	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr9:131381150G>C	uc004bvl.3	+	43	5699	c.5586G>C	c.(5584-5586)CGG>CGC	p.R1862R	SPTAN1_uc004bvm.3_Silent_p.R1867R|SPTAN1_uc004bvn.3_Silent_p.R1842R	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1862	Spectrin 19.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						CTGTAATTAGGGGTCAGCGGC	0.418													C	131381150	G	C	131381150	2	2	119	1	0	0	0	0	0	0	0	1	15116	1246	43	5		5	SPTAN1	9	131381150	Silent	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	6357382	131381150	9832281	78	74988											
ZMYND11	10771	broad.mit.edu	37	chr10	267156	267156	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	actgggaaacagaaaatcatGactggtattgttttgaatgc	10	5	1	3			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr10:267156G>C	uc010pzt.1	+	4	726	c.298G>C	c.(298-300)GAC>CAC	p.D100H	ZMYND11_uc001ifk.2_Missense_Mutation_p.D100H|ZMYND11_uc010pzu.1_Missense_Mutation_p.D100H|ZMYND11_uc010pzv.1_Intron|ZMYND11_uc010pzw.1_Intron|ZMYND11_uc001ifm.2_Intron|ZMYND11_uc010pzx.1_Missense_Mutation_p.D100H|ZMYND11_uc001ifn.2_Intron|ZMYND11_uc009xhg.2_Missense_Mutation_p.D83H|ZMYND11_uc009xhh.2_Intron|ZMYND11_uc010pzy.1_Intron	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	60	PHD-type.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGAAAATCATGACTGGTATTG	0.353													C	267156	G	C	267156	3	2	119	1	0	0	0	0	1	0	0	0	17703	1290	45	5	308	5	ZMYND11	10	267156	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08		267156	135267591	79	74989											
SFTPA2	729238	broad.mit.edu	37	chr10	81317845	81317845	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atttgatgtctgaagtcgtgGagtgtggcttggagctcctc	14	7	1	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr10:81317845G>C	uc001kal.3	-	5	430	c.333C>G	c.(331-333)CTC>CTG	p.L111L	SFTPA2_uc001kan.3_Silent_p.L111L	NM_006926	NP_008857	Q8IWL1	SFPA2_HUMAN	RecName: Full=Pulmonary surfactant-associated protein A2;          Short=SP-A2;          Short=SP-A;          Short=PSP-A;          Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor;	111					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding				0	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TGAAGTCGTGGAGTGTGGCTT	0.582									Pulmonary_Fibrosis_Idiopathic				C	81317845	G	C	81317845	2	2	119	1	0	0	0	0	0	0	0	1	14190	1161	41	5		5	SFTPA2	10	81317845	Silent	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	81050689	81317845	54216902	80	74990											
PPRC1	23082	broad.mit.edu	37	chr10	103904794	103904794	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcggcgttgacattccccAggagaagaggcccctagacc	12	14	0	4			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr10:103904794A>G	uc001kum.2	+	8	3665	c.3626A>G	c.(3625-3627)CAG>CGG	p.Q1209R	PPRC1_uc001kun.2_Missense_Mutation_p.Q1089R|PPRC1_uc010qqj.1_Intron|PPRC1_uc009xxa.2_Intron	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	1209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GACATTCCCCAGGAGAAGAGG	0.498													G	103904794	A	G	103904794	3	3	119	1	0	0	0	0	1	0	0	0	12410	188	7	3	3656	3	PPRC1	10	103904794	Missense_Mutation	SNP	A	TCGA-BR-A4IY-01A-11D-A25D-08	22586949	103904794	31629953	81	74991											
HSPA12A	259217	broad.mit.edu	37	chr10	118443393	118443393	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcatctggtgtagccgcagCtttcggcagtagatagaggc	13	9	2	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr10:118443393C>G	uc001lct.2	-	7	849	c.744G>C	c.(742-744)AAG>AAC	p.K248N	HSPA12A_uc001lcu.2_Missense_Mutation_p.K165N	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	248							ATP binding			ovary(1)	1				all cancers(201;0.0158)		GTAGCCGCAGCTTTCGGCAGT	0.582													G	118443393	C	G	118443393	3	3	119	1	0	0	0	0	1	0	0	0	7404	796	28	5	1307	5	HSPA12A	10	118443393	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	14538599	118443393	17091354	82	74992											
MMP21	118856	broad.mit.edu	37	chr10	127461231	127461231	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtgtgaagtgctcgtcGtcgtcaaagtgaatgtcacc	14	8	2	2	rs146537734		TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr10:127461231G>A	uc001liu.2	-	3	786	c.786C>T	c.(784-786)GAC>GAT	p.D262D		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	matrix metalloproteinase 21 preproprotein	262					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGTGCTCGTCGTCGTCAAAGT	0.622													A	127461231	G	A	127461231	2	1	119	1	0	0	0	0	0	0	0	1	9660	1136	40	1		1	MMP21	10	127461231	Silent	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	9017838	127461231	8073516	83	74993											
CNGA4	1262	broad.mit.edu	37	chr11	6265493	6265493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcacttaagattgcttacCgcattgaacggctggagtgg	13	9	0	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr11:6265493C>T	uc001mco.2	+	6	1689	c.1582C>T	c.(1582-1584)CGC>TGC	p.R528C	CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	528	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATTGCTTACCGCATTGAACG	0.587													T	6265493	C	T	6265493	3	4	119	1	0	0	0	0	1	0	0	0	3599	652	23	1	1604	1	CNGA4	11	6265493	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08		6265493	128741023	84	74994											
OVCH2	341277	broad.mit.edu	37	chr11	7722879	7722879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcccacccacctgacatgCgtctctccctccatcaggaa	6	19	2	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr11:7722879C>T	uc010rbf.1	-	6	703	c.703G>A	c.(703-705)GCA>ACA	p.A235T		NM_198185	NP_937828			ovochymase 2 precursor												0				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		ACCTGACATGCGTCTCTCCCT	0.483													T	7722879	C	T	7722879	3	4	119	1	0	0	0	0	1	0	0	0	11324	768	27	1	1030	1	OVCH2	11	7722879	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	1457386	7722879	127283637	85	74995											
CHRM4	1132	broad.mit.edu	37	chr11	46407613	46407613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagaacaagatggcaggCgcccagagcacgaaggacag	14	11	0	3			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr11:46407613C>T	uc001nct.1	-	1	495	c.495G>A	c.(493-495)GCG>GCA	p.A165A		NM_000741	NP_000732	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	165	Helical; Name=4; (By similarity).				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity				0				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	AGATGGCAGGCGCCCAGAGCA	0.602													T	46407613	C	T	46407613	2	4	119	1	0	0	0	0	0	0	0	1	3379	755	27	1		1	CHRM4	11	46407613	Silent	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	38684734	46407613	88598903	86	74996											
MADD	8567	broad.mit.edu	37	chr11	47296606	47296606	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtgctcagccactaccctttCttctccaccttccgagagtg	7	16	3	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr11:47296606C>G	uc001ner.1	+	3	746	c.555C>G	c.(553-555)TTC>TTG	p.F185L	MADD_uc001neq.2_Missense_Mutation_p.F185L|MADD_uc001nev.1_Missense_Mutation_p.F185L|MADD_uc001nes.1_Missense_Mutation_p.F185L|MADD_uc001net.1_Missense_Mutation_p.F185L|MADD_uc009yln.1_Missense_Mutation_p.F185L|MADD_uc001neu.1_Missense_Mutation_p.F185L|MADD_uc001nex.2_Missense_Mutation_p.F185L|MADD_uc001nez.2_Missense_Mutation_p.F185L|MADD_uc001new.2_Missense_Mutation_p.F185L	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	185	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		ACTACCCTTTCTTCTCCACCT	0.602													G	47296606	C	G	47296606	3	3	119	1	0	0	0	0	1	0	0	0	9152	912	32	5	561	5	MADD	11	47296606	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	888993	47296606	87709910	87	74997											
OR5T1	390155	broad.mit.edu	37	chr11	56043183	56043183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattttactgaagtcaccatGtttatattaataagcttcac	4	7	2	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr11:56043183G>A	uc001nio.1	+	1	69	c.69G>A	c.(67-69)ATG>ATA	p.M23I		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	23	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					AAGTCACCATGTTTATATTAA	0.303													A	56043183	G	A	56043183	3	1	119	1	0	0	0	0	1	0	0	0	11181	1377	48	4	71	4	OR5T1	11	56043183	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	8746577	56043183	78963333	88	74998											
SNX32	254122	broad.mit.edu	37	chr11	65620233	65620233	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agctgtgctgccaacgcttcGagcgcctctccgactccgcc	10	18	1	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr11:65620233G>C	uc001ofr.2	+	11	1172	c.1045G>C	c.(1045-1047)GAG>CAG	p.E349Q		NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	sorting nexin 6B	349					cell communication|protein transport		phosphatidylinositol binding				0				READ - Rectum adenocarcinoma(159;0.171)		CCAACGCTTCGAGCGCCTCTC	0.701													C	65620233	G	C	65620233	3	2	119	1	0	0	0	0	1	0	0	0	14902	1059	37	5	1087	5	SNX32	11	65620233	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	9577050	65620233	69386283	89	74999											
RAB1B	81876	broad.mit.edu	37	chr11	66039636	66039636	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaactttcaggatgacacGtacacagagagctacatcag	9	10	2	3			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr11:66039636G>A	uc001ohf.2	+	3	191	c.96G>A	c.(94-96)ACG>ACA	p.T32T	uc001ohg.1_RNA	NM_030981	NP_112243	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	32					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding				0						AGGATGACACGTACACAGAGA	0.532													A	66039636	G	A	66039636	2	1	119	1	0	0	0	0	0	0	0	1	12906	1132	40	1		1	RAB1B	11	66039636	Silent	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	419403	66039636	68966880	90	75000											
RBM14	10432	broad.mit.edu	37	chr11	66384208	66384208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaatgaagatattcgtggGcaacgtcgacggggcggata	14	7	0	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr11:66384208G>A	uc001oit.2	+	1	156	c.17G>A	c.(16-18)GGC>GAC	p.G6D	RBM14_uc009yrh.2_Missense_Mutation_p.G6D|RBM14_uc009yri.2_Missense_Mutation_p.G6D|RBM4_uc009yrj.2_5'UTR|RBM4_uc009yrk.2_Missense_Mutation_p.G6D	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	6	RRM 1.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						ATATTCGTGGGCAACGTCGAC	0.627													A	66384208	G	A	66384208	3	1	119	1	0	0	0	0	1	0	0	0	13115	1203	42	2	19	2	RBM14	11	66384208	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	344572	66384208	68622308	91	75001											
PDE2A	5138	broad.mit.edu	37	chr11	72299876	72299876	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggccaaggccaccacctggTcagtggcccggctgatgaca	13	14	1	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr11:72299876T>A	uc010rrc.1	-	13	1265	c.1022A>T	c.(1021-1023)GAC>GTC	p.D341V	PDE2A_uc001oso.2_Missense_Mutation_p.D320V|PDE2A_uc010rra.1_Missense_Mutation_p.D334V|PDE2A_uc001osn.2_Intron|PDE2A_uc010rrb.1_Missense_Mutation_p.D332V|PDE2A_uc010rrd.1_Missense_Mutation_p.D226V	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	341	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CACCACCTGGTCAGTGGCCCG	0.572													A	72299876	T	A	72299876	3	1	119	1	0	0	0	0	1	0	0	0	11636	1667	58	5	1879	5	PDE2A	11	72299876	Missense_Mutation	SNP	T	TCGA-BR-A4IY-01A-11D-A25D-08	5915668	72299876	62706640	92	75002											
P2RY2	5029	broad.mit.edu	37	chr11	72945522	72945522	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccttcagcacggtgctctgCaagctggtgcgcttcctctt	10	15	3	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr11:72945522C>A	uc001otj.2	+	3	651	c.318C>A	c.(316-318)TGC>TGA	p.C106*	P2RY2_uc001otk.2_Nonsense_Mutation_p.C106*|P2RY2_uc001otl.2_Nonsense_Mutation_p.C106*	NM_002564	NP_002555	P41231	P2RY2_HUMAN	purinergic receptor P2Y2	106	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(1)|skin(1)	4					Suramin(DB04786)	CGGTGCTCTGCAAGCTGGTGC	0.607													A	72945522	C	A	72945522	4	1	119	1	0	0	0	0	0	1	0	0	11352	718	25	5	320	5	P2RY2	11	72945522	Nonsense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	645646	72945522	62060994	93	75003											
ARHGEF17	9828	broad.mit.edu	37	chr11	73021583	73021583	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cccgagggcagcggtcccagGaggagctctcaggccctgag	16	14	1	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr11:73021583G>T	uc001otu.2	+	1	1921	c.1900G>T	c.(1900-1902)GAG>TAG	p.E634*		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	634					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						GCGGTCCCAGGAGGAGCTCTC	0.622													T	73021583	G	T	73021583	4	4	119	1	0	0	0	0	0	1	0	0	900	1175	41	5	1902	5	ARHGEF17	11	73021583	Nonsense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	76061	73021583	61984933	94	75004											
C3AR1	719	broad.mit.edu	37	chr12	8211383	8211383	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacattgtttgagggacagtGggtggaacgtgtgagctcct	16	6	0	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr12:8211383G>T	uc001qtv.1	-	2	1491	c.1399C>A	c.(1399-1401)CAC>AAC	p.H467N		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	467	Cytoplasmic (Potential).				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)	1				Kidney(36;0.0893)		GAGGGACAGTGGGTGGAACGT	0.468													T	8211383	G	T	8211383	3	4	119	1	0	0	0	0	1	0	0	0	2205	1348	47	5	53	5	C3AR1	12	8211383	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08		8211383	125640512	95	75005											
GRIN2B	2904	broad.mit.edu	37	chr12	13716833	13716833	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtggtcaggggagcggggCggtcggcgacggtaggccag	22	8	1	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr12:13716833C>T	uc001rbt.2	-	13	3518	c.3339G>A	c.(3337-3339)CCG>CCA	p.P1113P		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1113	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGGAGCGGGGCGGTCGGCGAC	0.612													T	13716833	C	T	13716833	2	4	119	1	0	0	0	0	0	0	0	1	6780	755	27	1		1	GRIN2B	12	13716833	Silent	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	5505450	13716833	120135062	96	75006											
BICD1	636	broad.mit.edu	37	chr12	32491848	32491848	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tcttctgaagggccccccttCcatgagtgaattcatccaag	8	13	3	3			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr12:32491848C>G	uc001rku.2	+	8	2780	c.2699C>G	c.(2698-2700)TCC>TGC	p.S900C	BICD1_uc001rkv.2_Intron|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	900					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGCCCCCCTTCCATGAGTGAA	0.498													G	32491848	C	G	32491848	3	3	119	1	0	0	0	0	1	0	0	0	1428	855	30	5	2729	5	BICD1	12	32491848	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	18775015	32491848	101360047	97	75007											
COL2A1	1280	broad.mit.edu	37	chr12	48368564	48368564	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgctggattggggtagacgCaagtctcgccagtctccatg	13	10	2	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr12:48368564C>A	uc001rqu.2	-	52	4149	c.3968G>T	c.(3967-3969)TGC>TTC	p.C1323F	COL2A1_uc001rqt.2_Missense_Mutation_p.C104F|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.C1254F	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1323	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGGGTAGACGCAAGTCTCGCC	0.532													A	48368564	C	A	48368564	3	1	119	1	0	0	0	0	1	0	0	0	3687	710	25	5	507	5	COL2A1	12	48368564	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	15876716	48368564	85483331	98	75008											
DNAJC22	79962	broad.mit.edu	37	chr12	49743369	49743369	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagtttgtcctccttctGccttaccggatctggaggct	11	11	2	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr12:49743369G>A	uc001rua.2	+	2	1115	c.714G>A	c.(712-714)CTG>CTA	p.L238L	DNAJC22_uc001rub.2_Silent_p.L238L	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	238	Helical; (Potential).				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)	1						TCCTCCTTCTGCCTTACCGGA	0.532													A	49743369	G	A	49743369	2	1	119	1	0	0	0	0	0	0	0	1	4641	1306	46	2		2	DNAJC22	12	49743369	Silent	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	1374805	49743369	84108526	99	75009											
TMEM5	10329	broad.mit.edu	37	chr12	64202853	64202853	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattttagaaagctcattttTaatgaataataaaagttaat	4	2	1	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr12:64202853T>G	uc001srq.1	+	6	1417	c.1313T>G	c.(1312-1314)TTA>TGA	p.L438*	TMEM5_uc001srr.1_Nonsense_Mutation_p.L335*|TMEM5_uc001srs.1_Nonsense_Mutation_p.L178*	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	438	Extracellular (Potential).					integral to plasma membrane					0		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		AGCTCATTTTTAATGAATAAT	0.254													G	64202853	T	G	64202853	4	3	119	1	0	0	0	0	0	1	0	0	16171	1764	61	5	1335	5	TMEM5	12	64202853	Nonsense_Mutation	SNP	T	TCGA-BR-A4IY-01A-11D-A25D-08	14459484	64202853	69649042	100	75010											
ZFC3H1	196441	broad.mit.edu	37	chr12	72056930	72056947	+	In_Frame_Del	DEL	CCACCCCGGTAAGGCCTG	CCACCCCGGTAAGGCCTG	-													gcccccgactccagcgactcCcaccccggtaaggcctgcct							TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr12:72056929_72056946CCCACCCCGGTAAGGCCTG>C	uc001swo.2	-	0	804_821	c.445_462CAGGCCTTACCGGGGTGGG>G	c.(445-462)aggccttaccggggtggg>G	p.RPYRGG149del	ZFC3H1_uc010sts.2_In_Frame_Del_p.RPYRGG149del|ZFC3H1_uc001swp.3_In_Frame_Del_p.RPYRGG149del|THAP2_uc001swq.3_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	149					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCCAGCGACTCCCACCCCGGTAAGGCCTGCCTCGAAAG	0.656													-	72056947	CCACCCCGGTAAGGCCTG	-	72056930	7	5	119	1	0	1	0	1	0	0	0	0	17630	623	22	0	5648	0	ZFC3H1	12	72056930	In_Frame_Del	DEL	CCACCCCGGTAAGGCCTG	TCGA-BR-A4IY-01A-11D-A25D-08	7854077	72056930	61794965	101	75011											
ATP2B1	490	broad.mit.edu	37	chr12	89996883	89996883	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgttaaagattccttcgaaTacatttctttcaccatgaat	4	8	2	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr12:89996883T>A	uc001tbh.2	-	17	3178	c.2997A>T	c.(2995-2997)GTA>GTT	p.V999V	ATP2B1_uc001tbg.2_Silent_p.V999V|ATP2B1_uc001tbf.2_Silent_p.V669V	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	999	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						TTCCTTCGAATACATTTCTTT	0.353													A	89996883	T	A	89996883	2	1	119	1	0	0	0	0	0	0	0	1	1139	1393	49	5		5	ATP2B1	12	89996883	Silent	SNP	T	TCGA-BR-A4IY-01A-11D-A25D-08	17939953	89996883	43855012	102	75012											
BTBD11	121551	broad.mit.edu	37	chr12	108029147	108029147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagctcacagaaatcaaacGgaaacagacctcgcgcttgg	9	12	2	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr12:108029147G>A	uc001tmk.1	+	12	3238	c.2717G>A	c.(2716-2718)CGG>CAG	p.R906Q	BTBD11_uc009zut.1_Missense_Mutation_p.R787Q|BTBD11_uc001tmj.2_Missense_Mutation_p.R906Q|BTBD11_uc001tml.1_Missense_Mutation_p.R443Q|BTBD11_uc001tmm.1_5'UTR	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	906						integral to membrane	DNA binding			skin(2)|ovary(1)	3						GAAATCAAACGGAAACAGACC	0.527													A	108029147	G	A	108029147	3	1	119	1	0	0	0	0	1	0	0	0	1539	1116	39	1	2868	1	BTBD11	12	108029147	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	18032264	108029147	25822748	103	75013											
ACACB	32	broad.mit.edu	37	chr12	109693967	109693981	+	In_Frame_Del	DEL	CGGATTCTTTGACCA	CGGATTCTTTGACCA	-													ctgaagggaacgtggcagagCggattctttgaccacggcag					rs150701956		TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr12:109693966_109693980GCGGATTCTTTGACCA>G	uc001tob.3	+	44	6307_6321	c.6188_6202GCGGATTCTTTGACCA>G	c.(6187-6204)agcggattctttgaccac>aGac	p.2063_2068SGFFDH>R	ACACB_uc001toc.3_In_Frame_Del_p.2063_2068SGFFDH>R|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_In_Frame_Del_p.729_734SGFFDH>R	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	2063	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	ACGTGGCAGAGCGGATTCTTTGACCACGGCAGTTT	0.605													-	109693981	CGGATTCTTTGACCA	-	109693967	7	5	119	1	0	1	0	1	0	0	0	0	107	767	27	0	6363	0	ACACB	12	109693967	In_Frame_Del	DEL	CGGATTCTTTGACCA	TCGA-BR-A4IY-01A-11D-A25D-08	1664820	109693967	24157928	104	75014											
MLEC	9761	broad.mit.edu	37	chr12	121125252	121125252	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgagagcgtcatttgggcGgtcaacgcgggtggagaggc	18	10	2	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr12:121125252G>A	uc001tyy.1	+	1	304	c.153G>A	c.(151-153)GCG>GCA	p.A51A		NM_014730	NP_055545	Q14165	MLEC_HUMAN	malectin precursor	51	Lumenal (Potential).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			ovary(1)	1						TCATTTGGGCGGTCAACGCGG	0.527													A	121125252	G	A	121125252	2	1	119	1	0	0	0	0	0	0	0	1	9613	1103	39	1		1	MLEC	12	121125252	Silent	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	11431285	121125252	12726643	105	75015											
TPTE2	93492	broad.mit.edu	37	chr13	19999107	19999107	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgttattttgaataaaagaCgtgttgaaccagaagaaaaa	8	4	0	5			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr13:19999107C>G	uc001umd.2	-	20	1657	c.1446G>C	c.(1444-1446)ACG>ACC	p.T482T	TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Silent_p.T371T|TPTE2_uc001ume.2_Silent_p.T405T|TPTE2_uc009zzm.2_Silent_p.T153T|TPTE2_uc010tcm.1_RNA|TPTE2_uc010tcl.1_Silent_p.T153T	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	482	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GAATAAAAGACGTGTTGAACC	0.299													G	19999107	C	G	19999107	2	3	119	1	0	0	0	0	0	0	0	1	16428	523	19	5		5	TPTE2	13	19999107	Silent	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08		19999107	95170771	106	75016											
USP12	219333	broad.mit.edu	37	chr13	27645260	27645260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcatgactcttaactattGcaatataatggcctcgattg	6	8	2	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr13:27645260G>A	uc001uqy.2	-	8	1212	c.959C>T	c.(958-960)GCA>GTA	p.A320V		NM_182488	NP_872294	O75317	UBP12_HUMAN	ubiquitin thiolesterase 12	320					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)	1		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		CTTAACTATTGCAATATAATG	0.274													A	27645260	G	A	27645260	3	1	119	1	0	0	0	0	1	0	0	0	17040	1319	46	2	161	2	USP12	13	27645260	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	7646153	27645260	87524618	107	75017											
LCP1	3936	broad.mit.edu	37	chr13	46725141	46725141	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtaattagcccacctcAgcaagagctcttcaggggag	13	10	3	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr13:46725141A>T	uc001vaz.3	-	8	938	c.812T>A	c.(811-813)CTG>CAG	p.L271Q	LCP1_uc001vba.3_Missense_Mutation_p.L271Q	NM_002298	NP_002289	P13796	PLSL_HUMAN	L-plastin	271	CH 2.|Actin-binding 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			lung(4)|ovary(3)	7		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		AGCCCACCTCAGCAAGAGCTC	0.453			T	BCL6	NHL 								T	46725141	A	T	46725141	3	4	119	1	0	0	0	0	1	0	0	0	8691	188	7	5	1107	5	LCP1	13	46725141	Missense_Mutation	SNP	A	TCGA-BR-A4IY-01A-11D-A25D-08	19079881	46725141	68444737	108	75018											
PTGDR	5729	broad.mit.edu	37	chr14	52735280	52735280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccgagccgcgcgcggacGggagggaagcgtcccctcag	18	14	1	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr14:52735280G>A	uc001wzq.2	+	1	850	c.748G>A	c.(748-750)GGG>AGG	p.G250R		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	250	Cytoplasmic (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GCGCGCGGACGGGAGGGAAGC	0.667													A	52735280	G	A	52735280	3	1	119	1	0	0	0	0	1	0	0	0	12741	1116	39	1	750	1	PTGDR	14	52735280	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08		52735280	54614260	109	75019											
SLC24A4	123041	broad.mit.edu	37	chr14	92949082	92949082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctcatcttcctcctgtgCgtcaccattcccaactgcag	5	19	3	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr14:92949082C>T	uc001yak.2	+	13	1287	c.1263C>T	c.(1261-1263)TGC>TGT	p.C421C	SLC24A4_uc001yai.2_Silent_p.C374C|SLC24A4_uc010twm.1_Silent_p.C419C|SLC24A4_uc001yaj.2_Silent_p.C402C|SLC24A4_uc010auj.2_Silent_p.C310C|SLC24A4_uc010twn.1_Silent_p.C194C|SLC24A4_uc001yan.2_Silent_p.C132C	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	438	Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TCCTCCTGTGCGTCACCATTC	0.582													T	92949082	C	T	92949082	2	4	119	1	0	0	0	0	0	0	0	1	14468	776	27	1		1	SLC24A4	14	92949082	Silent	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	40213802	92949082	14400458	110	75020											
C14orf68	283600	broad.mit.edu	37	chr14	100793683	100793683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccgacatcacgctctcGggatgcgcctccggcctcgt	12	16	2	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr14:100793683G>A	uc001yhc.2	+	4	376	c.303G>A	c.(301-303)TCG>TCA	p.S101S	C14orf68_uc001yhd.2_5'UTR	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	chromosome 14 open reading frame 68	101	Solcar 2.|Helical; Name=3; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0		Melanoma(154;0.152)				TCACGCTCTCGGGATGCGCCT	0.667													A	100793683	G	A	100793683	2	1	119	1	0	0	0	0	0	0	0	1	1778	1103	39	1		1	C14orf68	14	100793683	Silent	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	7844601	100793683	6555857	111	75021											
ADAMTS7	11173	broad.mit.edu	37	chr15	79080681	79080681	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtttcccaacgggctcaCagtcattgccgcttccgtca	9	15	3	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr15:79080681C>G	uc002bej.3	-	8	1425	c.1214G>C	c.(1213-1215)TGT>TCT	p.C405S	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.C405S	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	405	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						AACGGGCTCACAGTCATTGCC	0.637													G	79080681	C	G	79080681	3	3	119	1	0	0	0	0	1	0	0	0	271	478	17	5	3914	5	ADAMTS7	15	79080681	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08		79080681	23450711	112	75022											
ADAMTS7	11173	broad.mit.edu	37	chr15	79083543	79083543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatggggttcccaatgctgGggtcatgaaacaggccagcc	15	10	1	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr15:79083543G>A	uc002bej.3	-	5	1053	c.842C>T	c.(841-843)CCC>CTC	p.P281L	ADAMTS7_uc010und.1_Missense_Mutation_p.P281L|ADAMTS7_uc002bek.1_Missense_Mutation_p.P281L	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	281	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						CCCAATGCTGGGGTCATGAAA	0.602													A	79083543	G	A	79083543	3	1	119	1	0	0	0	0	1	0	0	0	271	1232	43	4	4298	4	ADAMTS7	15	79083543	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	2862	79083543	23447849	113	75023											
IDH2	3418	broad.mit.edu	37	chr15	90628287	90628287	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctccaggccacgtgtcCaggcaaagatgctggcgatg	15	11	0	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr15:90628287C>T	uc002box.2	-	9	1210	c.1124G>A	c.(1123-1125)TGG>TAG	p.W375*	IDH2_uc010uqb.1_Nonsense_Mutation_p.W323*|IDH2_uc010uqc.1_Nonsense_Mutation_p.W245*|IDH2_uc010bnu.2_Nonsense_Mutation_p.W266*	NM_002168	NP_002159	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+),	375					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			haematopoietic_and_lymphoid_tissue(621)|central_nervous_system(80)|bone(7)|skin(3)	711	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			GCCACGTGTCCAGGCAAAGAT	0.667			M		GBM								T	90628287	C	T	90628287	4	4	119	1	0	0	0	0	0	1	0	0	7495	595	21	4	246	4	IDH2	15	90628287	Nonsense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	11544744	90628287	11903105	114	75024											
C16orf42	115939	broad.mit.edu	37	chr16	1400843	1400843	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggcagcaaacgcttccacgCaggaaagtctgtagggccgg	14	11	1	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr16:1400843C>G	uc002cll.2	-	3	559	c.491G>C	c.(490-492)TGC>TCC	p.C164S	GNPTG_uc002clm.2_5'Flank	NM_001001410	NP_001001410	Q9UJK0	TSR3_HUMAN	hypothetical protein LOC115939	164					rRNA processing						0		Hepatocellular(780;0.0893)				CGCTTCCACGCAGGAAAGTCT	0.627													G	1400843	C	G	1400843	3	3	119	1	0	0	0	0	1	0	0	0	1813	710	25	5	463	5	C16orf42	16	1400843	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08		1400843	88953910	115	75025											
RUNDC2A	84127	broad.mit.edu	37	chr16	12142284	12142284	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aacaaggatttgaacgggcaGagtaagtttgctcccaccgt	11	9	0	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr16:12142284G>C	uc002dbw.1	+	7	617	c.555G>C	c.(553-555)CAG>CAC	p.Q185H		NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN	RUN domain containing 2A	185										ovary(1)	1						TGAACGGGCAGAGTAAGTTTG	0.498			T	CIITA	PMBL|Hodgkin Lymphona|								C	12142284	G	C	12142284	3	2	119	1	0	0	0	0	1	0	0	0	13743	933	33	5	581	5	RUNDC2A	16	12142284	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	10741441	12142284	78212469	116	75026											
KIF22	3835	broad.mit.edu	37	chr16	29810320	29810320	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagacctcctggaccctgctTcgggagacctggtaatccga	11	13	0	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr16:29810320T>A	uc002dts.3	+	5	598	c.574T>A	c.(574-576)TCG>ACG	p.S192T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Missense_Mutation_p.S124T|KIF22_uc010vdw.1_Missense_Mutation_p.S124T|KIF22_uc010bzf.2_Missense_Mutation_p.S124T	NM_007317	NP_015556	Q14807	KIF22_HUMAN	kinesin family member 22	192	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding				0						GGACCCTGCTTCGGGAGACCT	0.522													A	29810320	T	A	29810320	3	1	119	1	0	0	0	0	1	0	0	0	8290	1783	62	5	592	5	KIF22	16	29810320	Missense_Mutation	SNP	T	TCGA-BR-A4IY-01A-11D-A25D-08	17668036	29810320	60544433	117	75027											
HSD3B7	80270	broad.mit.edu	37	chr16	30997777	30997777	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatcgaggcttgtgtgcagaCcggaacacggttcctggtct	14	10	1	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr16:30997777C>A	uc002eaf.2	+	4	462	c.356C>A	c.(355-357)ACC>AAC	p.T119N	HSD3B7_uc010cac.2_Missense_Mutation_p.T119N|HSD3B7_uc002eag.2_Missense_Mutation_p.T119N|HSD3B7_uc002eah.2_Missense_Mutation_p.T119N	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta-	119					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity				0						TGTGTGCAGACCGGAACACGG	0.587													A	30997777	C	A	30997777	3	1	119	1	0	0	0	0	1	0	0	0	7392	507	18	5	366	5	HSD3B7	16	30997777	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	1187457	30997777	59356976	118	75028											
IRX3	79191	broad.mit.edu	37	chr16	54318990	54318990	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgccccagccagggacAgctcaggctcggtggccgcg	16	17	1	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr16:54318990A>G	uc002eht.1	-	2	1219	c.803T>C	c.(802-804)CTG>CCG	p.L268P		NM_024336	NP_077312	P78415	IRX3_HUMAN	iroquois homeobox 3	268					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AGCCAGGGACAGCTCAGGCTC	0.438													G	54318990	A	G	54318990	3	3	119	1	0	0	0	0	1	0	0	0	7845	188	7	3	714	3	IRX3	16	54318990	Missense_Mutation	SNP	A	TCGA-BR-A4IY-01A-11D-A25D-08	23321213	54318990	36035763	119	75029											
KATNB1	10300	broad.mit.edu	37	chr16	57787375	57787375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgagcgcgagtcccgcgCggagatccagaacgccgagg	17	13	0	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr16:57787375C>T	uc002eml.1	+	12	1495	c.1121C>T	c.(1120-1122)GCG>GTG	p.A374V		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	374	Interaction with PAFAH1B1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity				0		all_neural(199;0.223)				GAGTCCCGCGCGGAGATCCAG	0.672													T	57787375	C	T	57787375	3	4	119	1	0	0	0	0	1	0	0	0	7987	768	27	1	1163	1	KATNB1	16	57787375	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	3468385	57787375	32567378	120	75030											
CDH8	1006	broad.mit.edu	37	chr16	61687703	61687703	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcatatggcggggccgTgggatcattatctgcctcat	14	9	4	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr16:61687703T>A	uc002eog.1	-	12	2461	c.2209A>T	c.(2209-2211)ACG>TCG	p.T737S		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	737	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGCGGGGCCGTGGGATCATTA	0.498													A	61687703	T	A	61687703	3	1	119	1	0	0	0	0	1	0	0	0	3116	1696	59	5	194	5	CDH8	16	61687703	Missense_Mutation	SNP	T	TCGA-BR-A4IY-01A-11D-A25D-08	3900328	61687703	28667050	121	75031											
CDH11	1009	broad.mit.edu	37	chr16	65022100	65022100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctgtgtttcatagtccGttgtgatttcaaacgattcc	7	11	2	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr16:65022100G>A	uc002eoi.2	-	7	1393	c.959C>T	c.(958-960)ACG>ATG	p.T320M	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.T320M|CDH11_uc010vin.1_Missense_Mutation_p.T194M	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	320	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTCATAGTCCGTTGTGATTTC	0.438			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			A	65022100	G	A	65022100	3	1	119	1	0	0	0	0	1	0	0	0	3097	1145	40	1	1459	1	CDH11	16	65022100	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	3334397	65022100	25332653	122	75032											
ITGAE	3682	broad.mit.edu	37	chr17	3664729	3664729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttggcctgagcctggggaCggaggtcagggcccaggagg	20	9	1	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr17:3664729C>T	uc002fwo.3	-	5	500	c.401G>A	c.(400-402)CGT>CAT	p.R134H		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	134	FG-GAP 2.|Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AGCCTGGGGACGGAGGTCAGG	0.557													T	3664729	C	T	3664729	3	4	119	1	0	0	0	0	1	0	0	0	7885	536	19	1	3246	1	ITGAE	17	3664729	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08		3664729	77530481	123	75033											
MYBBP1A	10514	broad.mit.edu	37	chr17	4455258	4455258	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgctccttggtcagcagggGcagggccgcgcccagcaggc	16	15	1	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr17:4455258G>C	uc002fyb.3	-	8	1002	c.940C>G	c.(940-942)CCC>GCC	p.P314A	MYBBP1A_uc002fxz.3_Missense_Mutation_p.P314A	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	314	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						GTCAGCAGGGGCAGGGCCGCG	0.637													C	4455258	G	C	4455258	3	2	119	1	0	0	0	0	1	0	0	0	10008	1203	42	5	3162	5	MYBBP1A	17	4455258	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	790529	4455258	76739952	124	75034											
SLC13A5	284111	broad.mit.edu	37	chr17	6610071	6610071	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcccaggaacagcatgttGgtgtccttcatgtactggac	11	12	1	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr17:6610071G>T	uc002gdj.2	-	3	346	c.258C>A	c.(256-258)ACC>ACA	p.T86T	SLC13A5_uc010vtf.1_Silent_p.T86T|SLC13A5_uc010clq.2_Silent_p.T43T|SLC13A5_uc002gdk.2_Silent_p.T86T|SLC13A5_uc002gdl.1_5'Flank	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	solute carrier family 13, member 5 isoform a	86	Helical; (Potential).					integral to membrane	citrate transmembrane transporter activity				0						ACAGCATGTTGGTGTCCTTCA	0.632													T	6610071	G	T	6610071	2	4	119	1	0	0	0	0	0	0	0	1	14395	1335	47	5		5	SLC13A5	17	6610071	Silent	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	2154813	6610071	74585139	125	75035											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr17:7578406C>T	uc002gim.2	-	5	718	c.524G>A	c.(523-525)CGC>CAC	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	175	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7578406	C	T	7578406	3	4	119	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	968335	7578406	73616804	126	75036											
ELAC2	60528	broad.mit.edu	37	chr17	12921103	12921103	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggtacacggtgtttggGccgccggagcaccccgacgg	16	13	0	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr17:12921103G>C	uc002gnz.3	-	1	257	c.162C>G	c.(160-162)GGC>GGG	p.G54G	ELAC2_uc010vvp.1_Silent_p.G54G|ELAC2_uc010vvq.1_Silent_p.G54G|ELAC2_uc010vvr.1_Silent_p.G54G	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	elaC homolog 2 isoform 1	54					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding				0						CGGTGTTTGGGCCGCCGGAGC	0.716									Hereditary_Prostate_Cancer				C	12921103	G	C	12921103	2	2	119	1	0	0	0	0	0	0	0	1	5047	1190	42	5		5	ELAC2	17	12921103	Silent	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	5342697	12921103	68274107	127	75037											
FOXN1	8456	broad.mit.edu	37	chr17	26857812	26857825	+	Frame_Shift_Del	DEL	TCCCGTCAGCGAGA	TCCCGTCAGCGAGA	-													aacagtaaaactgggagcctTcccgtcagcgagatctacaa							TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr17:26857811_26857824TTCCCGTCAGCGAGA>T	uc010crm.3	+	5	1073_1086	c.875_888TTCCCGTCAGCGAGA>T	c.(874-888)cttcccgtcagcgagfs	p.L292fs	FOXN1_uc002hbj.3_Frame_Shift_Del_p.L292fs	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	292					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					ACTGGGAGCCTTCCCGTCAGCGAGATCTACAATT	0.533													-	26857825	TCCCGTCAGCGAGA	-	26857812	7	5	119	1	0	1	0	1	0	0	0	0	6019	1770	62	0	894	0	FOXN1	17	26857812	Frame_Shift_Del	DEL	TCCCGTCAGCGAGA	TCGA-BR-A4IY-01A-11D-A25D-08	13936709	26857812	54337398	128	75038											
PHF12	57649	broad.mit.edu	37	chr17	27237335	27237335	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggaaaagctgatgtattctCtgcaaggccagaaacttgat	11	7	1	3			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr17:27237335C>T	uc002hdg.1	-	11	2798	c.2268G>A	c.(2266-2268)CAG>CAA	p.Q756Q	PHF12_uc010wbb.1_Silent_p.Q738Q|PHF12_uc002hdi.1_Silent_p.Q752Q|PHF12_uc002hdh.1_Silent_p.Q539Q	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	756					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GATGTATTCTCTGCAAGGCCA	0.498													T	27237335	C	T	27237335	2	4	119	1	0	0	0	0	0	0	0	1	11823	912	32	4		4	PHF12	17	27237335	Silent	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	379523	27237335	53957875	129	75039											
HNF1B	6928	broad.mit.edu	37	chr17	36093716	36093716	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcatcggactgcccaggccCatggctctgttgactgaact	10	13	2	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr17:36093716C>G	uc002hok.3	-	3	864	c.643G>C	c.(643-645)GGG>CGG	p.G215R	HNF1B_uc010wdi.1_Missense_Mutation_p.G189R|HNF1B_uc010cve.1_Missense_Mutation_p.G23R	NM_000458	NP_000449	P35680	HNF1B_HUMAN	hepatocyte nuclear factor 1-beta isoform 1	215					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGCCCAGGCCCATGGCTCTGT	0.527									Hereditary_Prostate_Cancer				G	36093716	C	G	36093716	3	3	119	1	0	0	0	0	1	0	0	0	7252	594	21	5	1058	5	HNF1B	17	36093716	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	8856381	36093716	45101494	130	75040											
KRT25	147183	broad.mit.edu	37	chr17	38910169	38910169	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcagggtttcatactgaatCtccagatctgttctgcacag	8	11	5	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr17:38910169C>A	uc002hve.2	-	3	673	c.612G>T	c.(610-612)GAG>GAT	p.E204D		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	204	Rod.|Coil 1B.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)				CATACTGAATCTCCAGATCTG	0.448													A	38910169	C	A	38910169	3	1	119	1	0	0	0	0	1	0	0	0	8462	912	32	5	764	5	KRT25	17	38910169	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	2816453	38910169	42285041	131	75041											
ACLY	47	broad.mit.edu	37	chr17	40030139	40030139	+	Frame_Shift_Del	DEL	C	C	-													agacctcagtgatgggcatgCccgcgtagatgagctcctgt							TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr17:40030138_40030138GC>G	uc002hyg.3	-	22	2731	c.2568_2568GC>C	c.(2566-2568)ggcfs	p.G856fs	ACLY_uc002hyh.3_Frame_Shift_Del_p.G846fs|ACLY_uc002hyi.3_Frame_Shift_Del_p.G910fs|ACLY_uc010wfx.2_Frame_Shift_Del_p.G900fs|ACLY_uc010wfy.2_Frame_Shift_Del_p.G585fs	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	856					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TGATGGGCATGCCCGCGTAGA	0.567													-	40030139	C	-	40030139	7	5	119	1	0	1	0	1	0	0	0	0	143	739	26	0	766	0	ACLY	17	40030139	Frame_Shift_Del	DEL	C	TCGA-BR-A4IY-01A-11D-A25D-08	1119970	40030139	41165071	132	75042											
ZNF440	126070	broad.mit.edu	37	chr19	11942980	11942980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttacaagttttcaaacacAcgtaagattgcactctggag	7	9	3	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr19:11942980A>G	uc002msp.1	+	4	1145	c.989A>G	c.(988-990)CAC>CGC	p.H330R		NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	330	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTTCAAACACACGTAAGATTG	0.353													G	11942980	A	G	11942980	3	3	119	1	0	0	0	0	1	0	0	0	17910	159	6	3	1003	3	ZNF440	19	11942980	Missense_Mutation	SNP	A	TCGA-BR-A4IY-01A-11D-A25D-08		11942980	47186003	133	75043											
ZNF490	57474	broad.mit.edu	37	chr19	12692195	12692195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaaaggaaaagagaaatgCgaaggctttgccacattcct	10	8	0	1	rs143244240	byFrequency	TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr19:12692195C>T	uc002mtz.2	-	5	823	c.694G>A	c.(694-696)GCA>ACA	p.A232T		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	232	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAGAGAAATGCGAAGGCTTTG	0.423													T	12692195	C	T	12692195	3	4	119	1	0	0	0	0	1	0	0	0	17938	768	27	1	899	1	ZNF490	19	12692195	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	749215	12692195	46436788	134	75044											
PGLS	25796	broad.mit.edu	37	chr19	17631842	17631842	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggttcttggacgaggcGgccgcccgcctcctgaccgt	14	15	1	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr19:17631842G>A	uc002ngw.2	+	5	779	c.729G>A	c.(727-729)GCG>GCA	p.A243A	FAM129C_uc010xpq.1_5'Flank|FAM129C_uc010xpr.1_5'Flank	NM_012088	NP_036220	O95336	6PGL_HUMAN	6-phosphogluconolactonase	243						cytosol	6-phosphogluconolactonase activity				0						TGGACGAGGCGGCCGCCCGCC	0.667													A	17631842	G	A	17631842	2	1	119	1	0	0	0	0	0	0	0	1	11792	1103	39	1		1	PGLS	19	17631842	Silent	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	4939647	17631842	41497141	135	75045											
TSSK6	83983	broad.mit.edu	37	chr19	19626080	19626080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcggcaggaacttgttgaCgaagtccgggggcgctcgcc	16	12	0	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr19:19626080C>T	uc002nmr.2	-	1	390	c.157G>A	c.(157-159)GTC>ATC	p.V53I	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	53	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1						AACTTGTTGACGAAGTCCGGG	0.617													T	19626080	C	T	19626080	3	4	119	1	0	0	0	0	1	0	0	0	16669	536	19	1	668	1	TSSK6	19	19626080	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	1994238	19626080	39502903	136	75046											
PSENEN	55851	broad.mit.edu	37	chr19	36237375	36237375	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacatcttctggttcttccgAgaggccttccttgtcccagc	8	14	3	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr19:36237375A>T	uc002obi.1	+	3	321	c.117A>T	c.(115-117)CGA>CGT	p.R39R	TMEM149_uc010eej.2_5'Flank|U2AF1L4_uc002obh.1_5'Flank|U2AF1L4_uc002obe.2_5'Flank|U2AF1L4_uc002obf.2_5'Flank|U2AF1L4_uc002obg.2_5'Flank|PSENEN_uc002obj.1_Silent_p.R39R|PSENEN_uc002obk.1_RNA|LIN37_uc002obm.2_5'Flank	NM_172341	NP_758844	Q9NZ42	PEN2_HUMAN	presenilin enhancer 2	39	Cytoplasmic (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	aspartic-type endopeptidase activity|protein binding			ovary(2)	2	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTTCTTCCGAGAGGCCTTCC	0.512													T	36237375	A	T	36237375	2	4	119	1	0	0	0	0	0	0	0	1	12652	291	11	5		5	PSENEN	19	36237375	Silent	SNP	A	TCGA-BR-A4IY-01A-11D-A25D-08	16611295	36237375	22891608	137	75047											
WDR62	284403	broad.mit.edu	37	chr19	36582142	36582142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccttcctggccaccagctGctctgacaaaagcatctcag	7	16	2	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr19:36582142G>A	uc002odc.2	+	17	2166	c.2075G>A	c.(2074-2076)TGC>TAC	p.C692Y	WDR62_uc002odd.2_Missense_Mutation_p.C692Y	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	692	WD 11.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCACCAGCTGCTCTGACAAA	0.557													A	36582142	G	A	36582142	3	1	119	1	0	0	0	0	1	0	0	0	17310	1319	46	2	2141	2	WDR62	19	36582142	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	344767	36582142	22546841	138	75048											
DMPK	1760	broad.mit.edu	37	chr19	46281065	46281065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcctgtcccaggcccacCgcccacagcctgcaggatct	10	19	1	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr19:46281065C>T	uc002pdd.1	-	6	1316	c.772G>A	c.(772-774)GGT>AGT	p.G258S	DMPK_uc010xxs.1_Missense_Mutation_p.G159S|DMPK_uc002pde.1_Missense_Mutation_p.G258S|DMPK_uc002pdf.1_Missense_Mutation_p.G248S|DMPK_uc002pdg.1_Missense_Mutation_p.G248S|DMPK_uc002pdh.1_Missense_Mutation_p.G248S|DMPK_uc002pdi.1_Missense_Mutation_p.G274S|DMPK_uc010xxt.1_Missense_Mutation_p.G248S	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	myotonic dystrophy protein kinase isoform 1	258	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)	3		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CCAGGCCCACCGCCCACAGCC	0.652													T	46281065	C	T	46281065	3	4	119	1	0	0	0	0	1	0	0	0	4584	652	23	1	1190	1	DMPK	19	46281065	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	9698923	46281065	12847918	139	75049											
DHX34	9704	broad.mit.edu	37	chr19	47856911	47856911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggcttcagtcatgtggcGtgcacccagccccggcggat	14	14	2	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr19:47856911G>A	uc010xyn.1	+	2	965	c.624G>A	c.(622-624)GCG>GCA	p.A208A	DHX34_uc010elc.1_Silent_p.A208A	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	208	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GTCATGTGGCGTGCACCCAGC	0.637													A	47856911	G	A	47856911	2	1	119	1	0	0	0	0	0	0	0	1	4507	1132	40	1		1	DHX34	19	47856911	Silent	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	1575846	47856911	11272072	140	75050											
SCAF1	58506	broad.mit.edu	37	chr19	50149403	50149403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttcgatggcggcgctgcCggagtccacggtcagagccc	15	15	1	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr19:50149403C>T	uc002poq.2	+	4	329	c.205C>T	c.(205-207)CGG>TGG	p.R69W		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	69					mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GCGGCGCTGCCGGAGTCCACG	0.498													T	50149403	C	T	50149403	3	4	119	1	0	0	0	0	1	0	0	0	13868	643	23	1	215	1	SCAF1	19	50149403	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	2292492	50149403	8979580	141	75051											
KLK8	11202	broad.mit.edu	37	chr19	51499377	51499377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcagatgttggtatagaCgccaggtttgtcggacctcc	14	10	0	2	rs56296296	byFrequency	TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr19:51499377C>T	uc002pur.1	-	6	900	c.721G>A	c.(721-723)GTC>ATC	p.V241I	KLK8_uc002puq.1_Missense_Mutation_p.V286I|KLK8_uc002pus.1_Missense_Mutation_p.V100I|KLK8_uc002put.1_3'UTR|KLK8_uc002puu.1_Missense_Mutation_p.V241I|KLK9_uc002puv.1_RNA	NM_007196	NP_009127	O60259	KLK8_HUMAN	kallikrein 8 isoform 1 preproprotein	241	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TTGGTATAGACGCCAGGTTTG	0.542													T	51499377	C	T	51499377	3	4	119	1	0	0	0	0	1	0	0	0	8410	536	19	1	65	1	KLK8	19	51499377	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	1349974	51499377	7629606	142	75052											
ZNF83	55769	broad.mit.edu	37	chr19	53116897	53116897	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccagtatgaattctccaGtgatttactagggatgactt	8	8	2	3			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr19:53116897G>A	uc002pzu.3	-	2	2165	c.921C>T	c.(919-921)CAC>CAT	p.H307H	ZNF83_uc002pzv.3_Silent_p.H307H|ZNF83_uc010eps.2_Silent_p.H279H|ZNF83_uc010ept.2_Silent_p.H307H|ZNF83_uc010epu.2_Silent_p.H307H|ZNF83_uc010epv.2_Silent_p.H307H|ZNF83_uc010epw.2_Silent_p.H307H|ZNF83_uc010epx.2_Silent_p.H279H|ZNF83_uc010epy.2_Silent_p.H307H|ZNF83_uc010epz.2_Silent_p.H279H	NM_018300	NP_060770	P51522	ZNF83_HUMAN	zinc finger protein 83 isoform a	307	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		GAATTCTCCAGTGATTTACTA	0.428													A	53116897	G	A	53116897	2	1	119	1	0	0	0	0	0	0	0	1	18180	1020	36	4		4	ZNF83	19	53116897	Silent	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	1617520	53116897	6012086	143	75053											
ZNF600	162966	broad.mit.edu	37	chr19	53270700	53270700	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgattaccaattttacctttGatctgaattatgtggagttc	7	6	1	3			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr19:53270700G>A	uc002qab.3	-	3	595	c.309C>T	c.(307-309)ATC>ATT	p.I103I		NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TTTTACCTTTGATCTGAATTA	0.403													A	53270700	G	A	53270700	2	1	119	1	0	0	0	0	0	0	0	1	18027	1280	45	4		4	ZNF600	19	53270700	Silent	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	153803	53270700	5858283	144	75054											
GPCPD1	56261	broad.mit.edu	37	chr20	5579448	5579448	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccaaagcatcacagcttccAcatatcgcaaaaacttctcc	3	16	2	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr20:5579448A>T	uc002wme.3	-	3	282	c.69T>A	c.(67-69)TGT>TGA	p.C23*		NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	hypothetical protein LOC56261	23	CBM20.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity				0						CACAGCTTCCACATATCGCAA	0.418													T	5579448	A	T	5579448	4	4	119	1	0	0	0	0	0	1	0	0	6603	157	6	5	2021	5	GPCPD1	20	5579448	Nonsense_Mutation	SNP	A	TCGA-BR-A4IY-01A-11D-A25D-08		5579448	57446072	145	75055											
NINL	22981	broad.mit.edu	37	chr20	25434228	25434228	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gctctcaccaggtgggcgttCtccacgtacagctccttcag	10	15	3	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr20:25434228C>G	uc002wux.1	-	24	4082	c.4008G>C	c.(4006-4008)GAG>GAC	p.E1336D	NINL_uc010gdn.1_Missense_Mutation_p.E987D|NINL_uc002wuw.1_Missense_Mutation_p.E127D	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	1336	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GGTGGGCGTTCTCCACGTACA	0.562													G	25434228	C	G	25434228	3	3	119	1	0	0	0	0	1	0	0	0	10420	912	32	5	144	5	NINL	20	25434228	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	19854780	25434228	37591292	146	75056											
PTPRT	11122	broad.mit.edu	37	chr20	41306531	41306531	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttggtcctggtggtgagGggaggccctggcggtcccgt	18	11	0	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr20:41306531G>A	uc002xkg.2	-	7	1312	c.1128C>T	c.(1126-1128)CCC>CCT	p.P376P	PTPRT_uc010ggj.2_Silent_p.P376P	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	376	Extracellular (Potential).|Fibronectin type-III 1.				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)				TGGTGGTGAGGGGAGGCCCTG	0.547													A	41306531	G	A	41306531	2	1	119	1	0	0	0	0	0	0	0	1	12812	1219	43	4		4	PTPRT	20	41306531	Silent	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	15872303	41306531	21718989	147	75057											
TOMM34	10953	broad.mit.edu	37	chr20	43580479	43580479	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcacagctcacctctgTtctttgtagctgtggtttct	10	10	5	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr20:43580479T>C	uc002xmy.2	-	4	685	c.545A>G	c.(544-546)AAC>AGC	p.N182S	PABPC1L_uc002xmx.2_Intron|TOMM34_uc002xmz.2_RNA	NM_006809	NP_006800	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	182					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding				0		Myeloproliferative disorder(115;0.0122)				CTCACCTCTGTTCTTTGTAGC	0.448													C	43580479	T	C	43580479	3	2	119	1	0	0	0	0	1	0	0	0	16354	1725	60	3	400	3	TOMM34	20	43580479	Missense_Mutation	SNP	T	TCGA-BR-A4IY-01A-11D-A25D-08	2273948	43580479	19445041	148	75058											
YTHDF1	54915	broad.mit.edu	37	chr20	61834049	61834049	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caggcgcttgttgccgtgctCtgtgctacaccagatggagt	13	11	1	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr20:61834049C>A	uc002yeh.2	-	4	1537	c.1243G>T	c.(1243-1245)GAG>TAG	p.E415*	YTHDF1_uc011aaq.1_Nonsense_Mutation_p.E365*	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	415	YTH.									ovary(2)	2						TTGCCGTGCTCTGTGCTACAC	0.552													A	61834049	C	A	61834049	4	1	119	1	0	0	0	0	0	1	0	0	17495	922	32	5	444	5	YTHDF1	20	61834049	Nonsense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	18253570	61834049	1191471	149	75059											
KCNQ2	3785	broad.mit.edu	37	chr20	62044926	62044926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcttggacaccaggaacCgcatgacactgcaggggggt	14	12	0	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr20:62044926C>T	uc002yey.1	-	15	1817	c.1640G>A	c.(1639-1641)CGG>CAG	p.R547Q	KCNQ2_uc002yez.1_Missense_Mutation_p.R516Q|KCNQ2_uc002yfa.1_Missense_Mutation_p.R529Q|KCNQ2_uc002yfb.1_Missense_Mutation_p.R519Q	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	547	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CACCAGGAACCGCATGACACT	0.657													T	62044926	C	T	62044926	3	4	119	1	0	0	0	0	1	0	0	0	8083	652	23	1	990	1	KCNQ2	20	62044926	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	210877	62044926	980594	150	75060											
SRMS	6725	broad.mit.edu	37	chr20	62172223	62172223	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tctcccgcagcgtggcgaagGagggccgttcctcggggctg	17	13	1	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr20:62172223G>C	uc002yfi.1	-	8	1456	c.1415C>G	c.(1414-1416)TCC>TGC	p.S472C		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory	472	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(1)|lung(1)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGTGGCGAAGGAGGGCCGTTC	0.697													C	62172223	G	C	62172223	3	2	119	1	0	0	0	0	1	0	0	0	15151	1174	41	5	55	5	SRMS	20	62172223	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	127297	62172223	853297	151	75061											
TUBA8	51807	broad.mit.edu	37	chr22	18609664	18609664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagatggtgaagtgcgacCcgagacatggcaagtacatg	14	9	0	3			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr22:18609664C>T	uc002znv.1	+	4	992	c.919C>T	c.(919-921)CCG>TCG	p.P307S	TUBA8_uc002znr.2_Missense_Mutation_p.P241S|TUBA8_uc002znw.1_Missense_Mutation_p.P331S|TUBA8_uc002znx.1_Missense_Mutation_p.P154S	NM_018943	NP_061816	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	307					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0						GAAGTGCGACCCGAGACATGG	0.567													T	18609664	C	T	18609664	3	4	119	1	0	0	0	0	1	0	0	0	16747	623	22	4	933	4	TUBA8	22	18609664	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08		18609664	32694902	152	75062											
MYO18B	84700	broad.mit.edu	37	chr22	26422472	26422472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattggcactgagcagagccCggtccaccaatgtccacagc	10	15	0	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr22:26422472C>T	uc003abz.1	+	43	6782	c.6532C>T	c.(6532-6534)CGG>TGG	p.R2178W	MYO18B_uc003aca.1_Missense_Mutation_p.R2059W|MYO18B_uc010guy.1_Missense_Mutation_p.R2060W|MYO18B_uc010guz.1_Missense_Mutation_p.R2058W|MYO18B_uc011aka.1_Missense_Mutation_p.R1332W|MYO18B_uc011akb.1_Missense_Mutation_p.R1691W|MYO18B_uc010gva.1_Missense_Mutation_p.R161W|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2178						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						GAGCAGAGCCCGGTCCACCAA	0.537													T	26422472	C	T	26422472	3	4	119	1	0	0	0	0	1	0	0	0	10066	643	23	1	6698	1	MYO18B	22	26422472	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	7812808	26422472	24882094	153	75063											
TCN2	6948	broad.mit.edu	37	chr22	31009006	31009006	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcacagctcaaatggttccTggaggatgagaagagagcca	12	9	2	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr22:31009006T>G	uc003aip.1	+	3	562	c.404T>G	c.(403-405)CTG>CGG	p.L135R	TCN2_uc003aiq.1_Missense_Mutation_p.L131R|TCN2_uc003air.1_Intron	NM_000355	NP_000346	P20062	TCO2_HUMAN	transcobalamin II precursor	135					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAATGGTTCCTGGAGGATGAG	0.572													G	31009006	T	G	31009006	3	3	119	1	0	0	0	0	1	0	0	0	15704	1580	55	5	414	5	TCN2	22	31009006	Missense_Mutation	SNP	T	TCGA-BR-A4IY-01A-11D-A25D-08	4586534	31009006	20295560	154	75064											
SLC5A4	6527	broad.mit.edu	37	chr22	32631073	32631073	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcataacctccaacttcGttaaatgctaaaaaggcatc	4	12	1	0			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr22:32631073G>A	uc003ami.2	-	8	674	c.672C>T	c.(670-672)AAC>AAT	p.N224N		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	224	Helical; (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						CTCCAACTTCGTTAAATGCTA	0.423													A	32631073	G	A	32631073	2	1	119	1	0	0	0	0	0	0	0	1	14667	1136	40	1		1	SLC5A4	22	32631073	Silent	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08	1622067	32631073	18673493	155	75065											
FOXRED2	80020	broad.mit.edu	37	chr22	36902217	36902217	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgttagccttgcccgtgtAccgcttgttgatgctgatga	13	10	0	3			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr22:36902217A>G	uc003apn.3	-	1	361	c.253T>C	c.(253-255)TAC>CAC	p.Y85H	FOXRED2_uc003apo.3_Missense_Mutation_p.Y85H|FOXRED2_uc003app.3_Missense_Mutation_p.Y85H	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	85					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			lung(1)|kidney(1)	2						TTGCCCGTGTACCGCTTGTTG	0.647													G	36902217	A	G	36902217	3	3	119	1	0	0	0	0	1	0	0	0	6034	391	14	3	1833	3	FOXRED2	22	36902217	Missense_Mutation	SNP	A	TCGA-BR-A4IY-01A-11D-A25D-08	4271144	36902217	14402349	156	75066											
SH3BP1	23616	broad.mit.edu	37	chr22	38040901	38040901	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggagattcaggccgattacCatcgcaggtcactgagctcg	12	11	2	2			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr22:38040901C>G	uc003ati.2	+	9	823	c.712C>G	c.(712-714)CAT>GAT	p.H238D	SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_Missense_Mutation_p.H238D|SH3BP1_uc003ath.1_Missense_Mutation_p.H238D|SH3BP1_uc003atj.1_Missense_Mutation_p.H174D|SH3BP1_uc003atk.1_Missense_Mutation_p.H152D|uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	238	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					GGCCGATTACCATCGCAGGTC	0.622													G	38040901	C	G	38040901	3	3	119	1	0	0	0	0	1	0	0	0	14244	594	21	5	746	5	SH3BP1	22	38040901	Missense_Mutation	SNP	C	TCGA-BR-A4IY-01A-11D-A25D-08	1138684	38040901	13263665	157	75067											
MAP7D3	79649	broad.mit.edu	37	chrX	135314112	135314112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccacagggaatgagtccGtgctcacctcaggggccatg	12	13	3	1			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chrX:135314112G>A	uc004ezt.2	-	8	1095	c.1004C>T	c.(1003-1005)ACG>ATG	p.T335M	MAP7D3_uc004ezs.2_Missense_Mutation_p.T299M|MAP7D3_uc011mwc.1_Missense_Mutation_p.T317M|MAP7D3_uc010nsa.1_Missense_Mutation_p.T293M	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	335						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					GAATGAGTCCGTGCTCACCTC	0.572													A	135314112	G	A	135314112	3	1	119	1	0	0	0	0	1	0	0	0	9269	1145	40	1	1670	1	MAP7D3	23	135314112	Missense_Mutation	SNP	G	TCGA-BR-A4IY-01A-11D-A25D-08		135314112	19956448	158	75068											
FAM58B	339521	broad.mit.edu	37	chr1	200182943	200182943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcttccatttacttggcCggcaaagtggaagagcagcc	11	10	1	1			TCGA-BR-A4IZ-01A-32D-A25D-08	TCGA-BR-A4IZ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5290da-bfcb-4880-9148-c8d5d1a6a4ac	f814337f-39ee-4808-b2fa-29b10610254f	g.chr1:200182943C>T	uc009wzi.1	+	1	288	c.252C>T	c.(250-252)GCC>GCT	p.A84A		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	family with sequence similarity 58 member B	84					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding				0	Prostate(682;0.19)					TTTACTTGGCCGGCAAAGTGG	0.542													T	200182943	C	T	200182943	2	4	120	1	0	0	0	0	0	0	0	1	5591	639	23	1		1	FAM58B	1	200182943	Silent	SNP	C	TCGA-BR-A4IZ-01A-32D-A25D-08		200182943	49067678	1	75069											
PPP2R3A	5523	broad.mit.edu	37	chr3	135722102	135722102	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaaaatagaggaagaggatCgagccctcttactgcgaatc	10	9	1	2			TCGA-BR-A4IZ-01A-32D-A25D-08	TCGA-BR-A4IZ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5290da-bfcb-4880-9148-c8d5d1a6a4ac	f814337f-39ee-4808-b2fa-29b10610254f	g.chr3:135722102C>T	uc003eqv.1	+	2	2327	c.1762C>T	c.(1762-1764)CGA>TGA	p.R588*	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	588					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						GGAAGAGGATCGAGCCCTCTT	0.408													T	135722102	C	T	135722102	4	4	120	1	0	0	0	0	0	1	0	0	12388	876	31	1	1764	1	PPP2R3A	3	135722102	Nonsense_Mutation	SNP	C	TCGA-BR-A4IZ-01A-32D-A25D-08		135722102	62300328	2	75070											
SRP72	6731	broad.mit.edu	37	chr4	57356812	57356812	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccagagaaagccaaagcGtatccttttgattgttattc	8	8	0	2			TCGA-BR-A4IZ-01A-32D-A25D-08	TCGA-BR-A4IZ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5290da-bfcb-4880-9148-c8d5d1a6a4ac	f814337f-39ee-4808-b2fa-29b10610254f	g.chr4:57356812G>A	uc003hbv.2	+	15	1542	c.1502_splice	c.e15+1	p.A501_splice	SRP72_uc010ihe.2_Splice_Site_p.A440_splice|SRP72_uc003hbw.1_Splice_Site_p.A262_splice	NM_006947	NP_008878	O76094	SRP72_HUMAN	signal recognition particle 72kDa						response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)					AAGCCAAAGCGTATCCTTTTG	0.299													A	57356812	G	A	57356812	5	1	120	1	0	0	0	0	0	0	1	0	15156	1159	40	1	1561	1	SRP72	4	57356812	Splice_Site	SNP	G	TCGA-BR-A4IZ-01A-32D-A25D-08		57356812	133797464	3	75071											
TIGD4	201798	broad.mit.edu	37	chr4	153691406	153691406	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattctgttagcttcataacAcacaggcaatgattttaaac	5	9	2	1			TCGA-BR-A4IZ-01A-32D-A25D-08	TCGA-BR-A4IZ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5290da-bfcb-4880-9148-c8d5d1a6a4ac	f814337f-39ee-4808-b2fa-29b10610254f	g.chr4:153691406A>C	uc003imy.2	-	2	1533	c.751T>G	c.(751-753)TGT>GGT	p.C251G		NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	251	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			ovary(1)	1	all_hematologic(180;0.093)					GCTTCATAACACACAGGCAAT	0.418													C	153691406	A	C	153691406	3	2	120	1	0	0	0	0	1	0	0	0	15895	159	6	5	791	5	TIGD4	4	153691406	Missense_Mutation	SNP	A	TCGA-BR-A4IZ-01A-32D-A25D-08	96334594	153691406	37462870	4	75072											
RXFP3	51289	broad.mit.edu	37	chr5	33936904	33936904	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaggcagcaggcggggacaAgctagcagaactcttcagtc	13	10	2	1			TCGA-BR-A4IZ-01A-32D-A25D-08	TCGA-BR-A4IZ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5290da-bfcb-4880-9148-c8d5d1a6a4ac	f814337f-39ee-4808-b2fa-29b10610254f	g.chr5:33936904A>C	uc003jic.1	+	1	416	c.59A>C	c.(58-60)AAG>ACG	p.K20T		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	20	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						GGCGGGGACAAGCTAGCAGAA	0.597													C	33936904	A	C	33936904	3	2	120	1	0	0	0	0	1	0	0	0	13761	72	3	5	61	5	RXFP3	5	33936904	Missense_Mutation	SNP	A	TCGA-BR-A4IZ-01A-32D-A25D-08		33936904	146978356	5	75073											
DOCK2	1794	broad.mit.edu	37	chr5	169474616	169474616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggattcccctccttcctgCgggtgagtttgggggtgact	15	10	0	2			TCGA-BR-A4IZ-01A-32D-A25D-08	TCGA-BR-A4IZ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5290da-bfcb-4880-9148-c8d5d1a6a4ac	f814337f-39ee-4808-b2fa-29b10610254f	g.chr5:169474616C>T	uc003maf.2	+	40	4149	c.4069C>T	c.(4069-4071)CGG>TGG	p.R1357W	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R849W	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1357	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCTTCCTGCGGGTGAGTTT	0.542													T	169474616	C	T	169474616	3	4	120	1	0	0	0	0	1	0	0	0	4687	759	27	1	4227	1	DOCK2	5	169474616	Missense_Mutation	SNP	C	TCGA-BR-A4IZ-01A-32D-A25D-08	135537712	169474616	11440644	6	75074											
CTSF	8722	broad.mit.edu	37	chr11	66335480	66335480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttggacacggggagcCggcacaccatggggtcgttg	15	10	1	0			TCGA-BR-A4IZ-01A-32D-A25D-08	TCGA-BR-A4IZ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5290da-bfcb-4880-9148-c8d5d1a6a4ac	f814337f-39ee-4808-b2fa-29b10610254f	g.chr11:66335480C>T	uc001oip.2	-	2	377	c.287G>A	c.(286-288)CGG>CAG	p.R96Q		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	cathepsin F precursor	96					proteolysis	lysosome	cysteine-type endopeptidase activity				0						CACGGGGAGCCGGCACACCAT	0.652													T	66335480	C	T	66335480	3	4	120	1	0	0	0	0	1	0	0	0	4034	652	23	1	1215	1	CTSF	11	66335480	Missense_Mutation	SNP	C	TCGA-BR-A4IZ-01A-32D-A25D-08		66335480	68671036	7	75075											
CACNA1C	775	broad.mit.edu	37	chr12	2566863	2566863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccctgcggctggtgtccGgagtcccaagtaagtgaagc	14	13	0	1			TCGA-BR-A4IZ-01A-32D-A25D-08	TCGA-BR-A4IZ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5290da-bfcb-4880-9148-c8d5d1a6a4ac	f814337f-39ee-4808-b2fa-29b10610254f	g.chr12:2566863G>A	uc009zdu.1	+	5	1061	c.748G>A	c.(748-750)GGA>AGA	p.G250R	CACNA1C_uc009zdv.1_Missense_Mutation_p.G250R|CACNA1C_uc001qkb.2_Missense_Mutation_p.G250R|CACNA1C_uc001qkc.2_Missense_Mutation_p.G250R|CACNA1C_uc001qke.2_Missense_Mutation_p.G250R|CACNA1C_uc001qkf.2_Missense_Mutation_p.G250R|CACNA1C_uc001qjz.2_Missense_Mutation_p.G250R|CACNA1C_uc001qkd.2_Missense_Mutation_p.G250R|CACNA1C_uc001qkg.2_Missense_Mutation_p.G250R|CACNA1C_uc009zdw.1_Missense_Mutation_p.G250R|CACNA1C_uc001qkh.2_Missense_Mutation_p.G250R|CACNA1C_uc001qkl.2_Missense_Mutation_p.G250R|CACNA1C_uc001qkn.2_Missense_Mutation_p.G250R|CACNA1C_uc001qko.2_Missense_Mutation_p.G250R|CACNA1C_uc001qkp.2_Missense_Mutation_p.G250R|CACNA1C_uc001qkr.2_Missense_Mutation_p.G250R|CACNA1C_uc001qku.2_Missense_Mutation_p.G250R|CACNA1C_uc001qkq.2_Missense_Mutation_p.G250R|CACNA1C_uc001qks.2_Missense_Mutation_p.G250R|CACNA1C_uc001qkt.2_Missense_Mutation_p.G250R|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR|CACNA1C_uc001qkj.1_5'UTR|CACNA1C_uc001qkk.1_5'UTR|CACNA1C_uc001qkm.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	250	I.|Helical; Name=S4 of repeat I; (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCTGGTGTCCGGAGTCCCAAG	0.577													A	2566863	G	A	2566863	3	1	120	1	0	0	0	0	1	0	0	0	2540	1117	39	1	766	1	CACNA1C	12	2566863	Missense_Mutation	SNP	G	TCGA-BR-A4IZ-01A-32D-A25D-08		2566863	131285032	8	75076											
PPP4C	5531	broad.mit.edu	37	chr16	30094833	30094833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctcggtgactgtgtggcGctactgcactgagatctttg	14	10	1	2			TCGA-BR-A4IZ-01A-32D-A25D-08	TCGA-BR-A4IZ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5290da-bfcb-4880-9148-c8d5d1a6a4ac	f814337f-39ee-4808-b2fa-29b10610254f	g.chr16:30094833G>A	uc002dwe.2	+	6	566	c.422G>A	c.(421-423)CGC>CAC	p.R141H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Missense_Mutation_p.R141H|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Missense_Mutation_p.R62H	NM_002720	NP_002711	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	141					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			skin(1)	1						ACTGTGTGGCGCTACTGCACT	0.587													A	30094833	G	A	30094833	3	1	120	1	0	0	0	0	1	0	0	0	12402	1087	38	1	440	1	PPP4C	16	30094833	Missense_Mutation	SNP	G	TCGA-BR-A4IZ-01A-32D-A25D-08		30094833	60259920	9	75077											
RFX1	5989	broad.mit.edu	37	chr19	14079448	14079448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcggctgctgccccaccGccacgccgttggtcatgcct	11	18	1	0			TCGA-BR-A4IZ-01A-32D-A25D-08	TCGA-BR-A4IZ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5290da-bfcb-4880-9148-c8d5d1a6a4ac	f814337f-39ee-4808-b2fa-29b10610254f	g.chr19:14079448G>A	uc002mxv.2	-	12	1933	c.1661C>T	c.(1660-1662)GCG>GTG	p.A554V		NM_002918	NP_002909	P22670	RFX1_HUMAN	regulatory factor X1	554					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			lung(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CTGCCCCACCGCCACGCCGTT	0.662													A	14079448	G	A	14079448	3	1	120	1	0	0	0	0	1	0	0	0	13262	1087	38	1	1318	1	RFX1	19	14079448	Missense_Mutation	SNP	G	TCGA-BR-A4IZ-01A-32D-A25D-08		14079448	45049535	10	75078											
CCNL2	81669	broad.mit.edu	37	chr1	1330804	1330804	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcacatggacgcagaaAcccaactctttgagaactcg	8	12	2	2			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr1:1330804A>C	uc001afi.2	-	4	596	c.564T>G	c.(562-564)GGT>GGG	p.G188G	CCNL2_uc001aff.1_5'Flank|CCNL2_uc001afg.1_5'UTR|CCNL2_uc001afh.2_Silent_p.G188G|CCNL2_uc001afj.2_Silent_p.G188G|CCNL2_uc001afk.2_Silent_p.G188G	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	cyclin L2 isoform A	188					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GGACGCAGAAACCCAACTCTT	0.537													C	1330804	A	C	1330804	2	2	121	1	0	0	0	0	0	0	0	1	2932	30	2	5		5	CCNL2	1	1330804	Silent	SNP	A	TCGA-BR-A4J1-01A-11D-A25D-08		1330804	247919817	1	75079											
CELA2A	63036	broad.mit.edu	37	chr1	15789355	15789355	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actccaaccaaatctccaaaGggttcgtttctgtctgggtg	9	11	3	0			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr1:15789355G>T	uc001awk.2	+	4	381	c.355G>T	c.(355-357)GGG>TGG	p.G119W		NM_033440	NP_254275	P08217	CEL2A_HUMAN	elastase 2A preproprotein	119	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						AATCTCCAAAGGGTTCGTTTC	0.577													T	15789355	G	T	15789355	3	4	121	1	0	0	0	0	1	0	0	0	3211	1014	35	5	369	5	CELA2A	1	15789355	Missense_Mutation	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08	14458551	15789355	233461266	2	75080											
ARID1A	8289	broad.mit.edu	37	chr1	27100120	27100123	+	Frame_Shift_Del	DEL	CAGC	CAGC	-													acatgagcactggggccccaCagccgaatctcatgccttcc							TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr1:27100120_27100123delCAGC	uc001bmv.1	+	16	4289_4292	c.3916_3919delCAGC	c.(3916-3921)CAGCCGfs	p.Q1306fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.Q1305fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Q1306fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Q923fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.Q152fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1306_1307				P -> S (in Ref. 1; AAG33967, 5; AAG17549 and 7; BAA23269).	androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGGGGCCCCACAGCCGAATCTCAT	0.5			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								-	27100123	CAGC	-	27100120	7	5	121	1	0	1	0	1	0	0	0	0	913	479	17	0	3978	0	ARID1A	1	27100120	Frame_Shift_Del	DEL	CAGC	TCGA-BR-A4J1-01A-11D-A25D-08	11310765	27100120	222150501	3	75081											
MAP7D1	55700	broad.mit.edu	37	chr1	36642154	36642154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgggggcagccccgctcCggtgcgccgccggccggagg	19	18	0	0			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr1:36642154C>T	uc001bzz.2	+	7	1421	c.1205C>T	c.(1204-1206)CCG>CTG	p.P402L	MAP7D1_uc001caa.2_Missense_Mutation_p.P370L|MAP7D1_uc001cab.2_Missense_Mutation_p.P365L|MAP7D1_uc001cac.2_Missense_Mutation_p.P102L|MAP7D1_uc001cad.2_5'Flank	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	402						cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)				AGCCCCGCTCCGGTGCGCCGC	0.781													T	36642154	C	T	36642154	3	4	121	1	0	0	0	0	1	0	0	0	9267	652	23	1	1231	1	MAP7D1	1	36642154	Missense_Mutation	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08	9542034	36642154	212608467	4	75082											
MRPS15	64960	broad.mit.edu	37	chr1	36929865	36929865	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaactcagcgtcctccacgcGaccctcagcatggtgacctc	8	17	2	1			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr1:36929865G>A	uc001cas.2	-	1	176	c.12C>T	c.(10-12)GTC>GTT	p.V4V		NM_031280	NP_112570	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15 precursor	4					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCTCCACGCGACCCTCAGCA	0.542													A	36929865	G	A	36929865	2	1	121	1	0	0	0	0	0	0	0	1	9825	1045	37	1		1	MRPS15	1	36929865	Silent	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08	287711	36929865	212320756	5	75083											
OMA1	115209	broad.mit.edu	37	chr1	59004914	59004914	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agttagacagtgaattaaatCggaagaaaacatggtttcta	9	4	1	3			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr1:59004914C>G	uc001cyy.2	-	2	141	c.53G>C	c.(52-54)CGA>CCA	p.R18P	DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Missense_Mutation_p.R18P|OMA1_uc009vzz.2_Missense_Mutation_p.R18P	NM_145243	NP_660286	Q96E52	OMA1_HUMAN	OMA1 homolog, zinc metallopeptidase precursor	18					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			large_intestine(1)	1	all_cancers(7;6.54e-05)					TGAATTAAATCGGAAGAAAAC	0.358													G	59004914	C	G	59004914	3	3	121	1	0	0	0	0	1	0	0	0	10864	884	31	5	1553	5	OMA1	1	59004914	Missense_Mutation	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08	22075049	59004914	190245707	6	75084											
HRNR	388697	broad.mit.edu	37	chr1	152192120	152192120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcggacccatgtcggccgCgactaggagactggccagat	13	12	0	2	rs146400284	byFrequency	TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr1:152192120C>T	uc001ezt.1	-	3	2061	c.1985G>A	c.(1984-1986)CGC>CAC	p.R662H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	662	6.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTCGGCCGCGACTAGGAGA	0.587													T	152192120	C	T	152192120	3	4	121	1	0	0	0	0	1	0	0	0	7359	768	27	1	6571	1	HRNR	1	152192120	Missense_Mutation	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08	93187206	152192120	97058501	7	75085											
IGSF9	57549	broad.mit.edu	37	chr1	159901336	159901336	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctccttggtcaatggtcGcaggatgaggctgctgttgc	15	10	1	1			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr1:159901336G>A	uc001fur.2	-	12	1618	c.1420C>T	c.(1420-1422)CGA>TGA	p.R474*	IGSF9_uc001fuq.2_Nonsense_Mutation_p.R458*|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	474	Ig-like 5.|Extracellular (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTCAATGGTCGCAGGATGAGG	0.647													A	159901336	G	A	159901336	4	1	121	1	0	0	0	0	0	1	0	0	7605	1095	38	1	2159	1	IGSF9	1	159901336	Nonsense_Mutation	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08	7709216	159901336	89349285	8	75086											
ZNF638	27332	broad.mit.edu	37	chr2	71650235	71650235	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcactgaaaatgccgaggaGtgtgctttaaatcagcagat	10	7	2	2			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr2:71650235G>C	uc002shx.2	+	22	3910	c.3591G>C	c.(3589-3591)GAG>GAC	p.E1197D	ZNF638_uc010yqw.1_Missense_Mutation_p.E776D|ZNF638_uc002shy.2_Missense_Mutation_p.E1197D|ZNF638_uc002shz.2_Missense_Mutation_p.E1197D|ZNF638_uc002sia.2_Missense_Mutation_p.E1197D|ZNF638_uc002sib.1_Intron|ZNF638_uc010fed.2_Intron|ZNF638_uc002sic.2_Missense_Mutation_p.E294D|ZNF638_uc002sid.2_Intron	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	1197	Glu-rich.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						ATGCCGAGGAGTGTGCTTTAA	0.408													C	71650235	G	C	71650235	3	2	121	1	0	0	0	0	1	0	0	0	18052	1020	36	5	3673	5	ZNF638	2	71650235	Missense_Mutation	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08		71650235	171549138	9	75087											
ZNF514	84874	broad.mit.edu	37	chr2	95815684	95815684	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtctgcctgaattctgtAtcacatttataagatccttc	5	9	3	2			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr2:95815684A>G	uc002sue.1	-	5	920	c.546T>C	c.(544-546)GAT>GAC	p.D182D	ZNF514_uc002sud.1_Silent_p.D255D	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	zinc finger protein 514	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGAATTCTGTATCACATTTAT	0.398													G	95815684	A	G	95815684	2	3	121	1	0	0	0	0	0	0	0	1	17956	446	16	3		3	ZNF514	2	95815684	Silent	SNP	A	TCGA-BR-A4J1-01A-11D-A25D-08	24165449	95815684	147383689	10	75088											
MBD5	55777	broad.mit.edu	37	chr2	149247083	149247083	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaccttgtgagttgcaaccGaggattgacccatctcttgg	10	11	1	2			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr2:149247083G>A	uc002twm.3	+	12	4171	c.3183G>A	c.(3181-3183)CCG>CCA	p.P1061P	MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Silent_p.P1061P|MBD5_uc002two.2_Silent_p.P319P|MBD5_uc002twp.2_Silent_p.P111P	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1061						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGTTGCAACCGAGGATTGACC	0.483													A	149247083	G	A	149247083	2	1	121	1	0	0	0	0	0	0	0	1	9347	1045	37	1		1	MBD5	2	149247083	Silent	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08	53431399	149247083	93952290	11	75089											
PARD3B	117583	broad.mit.edu	37	chr2	206480274	206480274	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attatccaggggctcatcctAtgcaccctcccaaagggagc	9	14	1	0			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr2:206480274A>G	uc002var.1	+	23	3562	c.3355A>G	c.(3355-3357)ATG>GTG	p.M1119V	PARD3B_uc002vao.1_Missense_Mutation_p.M1018V|PARD3B_uc002vap.1_Missense_Mutation_p.M1057V|PARD3B_uc002vaq.1_Missense_Mutation_p.M1050V|uc010fuc.1_5'Flank	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	1119					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGCTCATCCTATGCACCCTCC	0.612													G	206480274	A	G	206480274	3	3	121	1	0	0	0	0	1	0	0	0	11444	449	16	3	3445	3	PARD3B	2	206480274	Missense_Mutation	SNP	A	TCGA-BR-A4J1-01A-11D-A25D-08	57233191	206480274	36719099	12	75090											
PRKAG3	53632	broad.mit.edu	37	chr2	219694947	219694947	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagctccacatcatctgtGctggagcctgcagctgaggc	12	14	2	1			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr2:219694947G>A	uc002vjb.1	-	4	406	c.387C>T	c.(385-387)AGC>AGT	p.S129S	PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Silent_p.S129S|PRKAG3_uc010zko.1_Silent_p.S125S	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	AMP-activated protein kinase, non-catalytic	129					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			ovary(1)|lung(1)	2		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATCATCTGTGCTGGAGCCTG	0.642													A	219694947	G	A	219694947	2	1	121	1	0	0	0	0	0	0	0	1	12502	1310	46	2		2	PRKAG3	2	219694947	Silent	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08	13214673	219694947	23504426	13	75091											
CCDC71	64925	broad.mit.edu	37	chr3	49200840	49200840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagccccctttcattcgccGgacactgggggacccagtgg	13	14	1	1			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr3:49200840G>A	uc003cwg.3	-	2	940	c.802C>T	c.(802-804)CGG>TGG	p.R268W		NM_022903	NP_075054	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	268										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTCATTCGCCGGACACTGGGG	0.647													A	49200840	G	A	49200840	3	1	121	1	0	0	0	0	1	0	0	0	2844	1115	39	1	605	1	CCDC71	3	49200840	Missense_Mutation	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08		49200840	148821590	14	75092											
FILIP1L	11259	broad.mit.edu	37	chr3	99568539	99568539	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgttcattagcataccttcGttctagagtctcatattcat	5	10	4	1			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr3:99568539G>A	uc003dtm.2	-	5	2444	c.1981C>T	c.(1981-1983)CGA>TGA	p.R661*	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Nonsense_Mutation_p.R661*|FILIP1L_uc010hpf.2_Nonsense_Mutation_p.R237*|FILIP1L_uc010hpg.2_Nonsense_Mutation_p.R421*|FILIP1L_uc003dtn.2_Nonsense_Mutation_p.R421*|FILIP1L_uc003dtp.1_Nonsense_Mutation_p.R421*	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	661	Potential.					cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						GCATACCTTCGTTCTAGAGTC	0.373													A	99568539	G	A	99568539	4	1	121	1	0	0	0	0	0	1	0	0	5895	1153	40	1	1455	1	FILIP1L	3	99568539	Nonsense_Mutation	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08	50367699	99568539	98453891	15	75093											
CEP97	79598	broad.mit.edu	37	chr3	101451439	101451439	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgactatcggccgtacatCgtcagctggtgcctaaacct	9	12	1	1			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr3:101451439C>T	uc003dvk.1	+	6	696	c.669C>T	c.(667-669)ATC>ATT	p.I223I	CEP97_uc010hpm.1_Silent_p.I189I|CEP97_uc011bhf.1_Silent_p.I223I|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Silent_p.I61I	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	223	LRRCT.					centrosome|nucleus	protein binding			ovary(2)	2						GGCCGTACATCGTCAGCTGGT	0.418													T	101451439	C	T	101451439	2	4	121	1	0	0	0	0	0	0	0	1	3263	874	31	1		1	CEP97	3	101451439	Silent	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08	1882900	101451439	96570991	16	75094											
UMPS	7372	broad.mit.edu	37	chr3	124462864	124462864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataatctcagcagctgatcGtctggaagcagcagagatgt	11	9	2	2	rs142909683		TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr3:124462864G>A	uc003ehl.3	+	6	1482	c.1376G>A	c.(1375-1377)CGT>CAT	p.R459H	UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Missense_Mutation_p.R281H|UMPS_uc011bkb.1_Missense_Mutation_p.R367H|UMPS_uc011bkc.1_Missense_Mutation_p.R281H|UMPS_uc003ehn.3_Missense_Mutation_p.R281H|UMPS_uc011bkd.1_Missense_Mutation_p.R184H	NM_000373	NP_000364	P11172	UMPS_HUMAN	uridine monophosphate synthase	459	OMPdecase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			kidney(1)	1				GBM - Glioblastoma multiforme(114;0.146)		GCAGCTGATCGTCTGGAAGCA	0.428													A	124462864	G	A	124462864	3	1	121	1	0	0	0	0	1	0	0	0	16978	1145	40	1	1398	1	UMPS	3	124462864	Missense_Mutation	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08	23011425	124462864	73559566	17	75095											
IGSF10	285313	broad.mit.edu	37	chr3	151163813	151163813	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggtaggagttgttgctGgtattgctgtttgcgttgat	16	3	0	1			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr3:151163813G>C	uc011bod.1	-	4	3956	c.3956C>G	c.(3955-3957)CCA>CGA	p.P1319R		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1319					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTTGTTGCTGGTATTGCTGT	0.423													C	151163813	G	C	151163813	3	2	121	1	0	0	0	0	1	0	0	0	7597	1348	47	5	3975	5	IGSF10	3	151163813	Missense_Mutation	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08	26700949	151163813	46858617	18	75096											
HRASLS	57110	broad.mit.edu	37	chr3	192988433	192988433	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgttgagtttgtgacagctgCtgttggtgtcttctcattcc	11	9	2	2			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr3:192988433C>A	uc003fta.2	+	4	851	c.446C>A	c.(445-447)GCT>GAT	p.A149D		NM_020386	NP_065119	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	149											0	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		GTGACAGCTGCTGTTGGTGTC	0.373													A	192988433	C	A	192988433	3	1	121	1	0	0	0	0	1	0	0	0	7349	797	28	5	456	5	HRASLS	3	192988433	Missense_Mutation	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08	41824620	192988433	5033997	19	75097											
ARHGAP24	83478	broad.mit.edu	37	chr4	86916641	86916641	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gggactatgaaagcaaaagtGaccacaggagtgtgggaggt	16	5	0	2			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr4:86916641G>C	uc003hpk.2	+	9	2283	c.1834G>C	c.(1834-1836)GAC>CAC	p.D612H	ARHGAP24_uc003hpl.2_Missense_Mutation_p.D517H|ARHGAP24_uc010ikf.2_Missense_Mutation_p.D527H|ARHGAP24_uc003hpm.2_Missense_Mutation_p.D519H	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	612					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAGCAAAAGTGACCACAGGAG	0.552													C	86916641	G	C	86916641	3	2	121	1	0	0	0	0	1	0	0	0	873	1290	45	5	1980	5	ARHGAP24	4	86916641	Missense_Mutation	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08		86916641	104237635	20	75098											
TTC29	83894	broad.mit.edu	37	chr4	147788681	147788681	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcatattcctcagcagctAagtgtgctaagcccaagtag	8	10	2	0			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr4:147788681A>C	uc003ikw.3	-	8	1081	c.854T>G	c.(853-855)TTA>TGA	p.L285*	TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Nonsense_Mutation_p.L311*|TTC29_uc010ipd.1_Nonsense_Mutation_p.L285*	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	285	TPR 3.						binding				0	all_hematologic(180;0.151)					CTCAGCAGCTAAGTGTGCTAA	0.294													C	147788681	A	C	147788681	4	2	121	1	0	0	0	0	0	1	0	0	16693	372	13	5	597	5	TTC29	4	147788681	Nonsense_Mutation	SNP	A	TCGA-BR-A4J1-01A-11D-A25D-08	60872040	147788681	43365595	21	75099											
GPR98	84059	broad.mit.edu	37	chr5	90004691	90004691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaacttacgttggacttaCcatggctgcttcaacttcat	6	10	2	0			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr5:90004691C>T	uc003kju.2	+	39	8885	c.8789C>T	c.(8788-8790)ACC>ATC	p.T2930I	GPR98_uc003kjt.2_Missense_Mutation_p.T636I|GPR98_uc003kjv.2_Missense_Mutation_p.T530I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2930	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTTGGACTTACCATGGCTGCT	0.348													T	90004691	C	T	90004691	3	4	121	1	0	0	0	0	1	0	0	0	6721	507	18	4	8943	4	GPR98	5	90004691	Missense_Mutation	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08		90004691	90910569	22	75100											
EPB41L4A	64097	broad.mit.edu	37	chr5	111754701	111754701	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccaggagcaaaacttcgcaGtaaaattcttccggaacagc	8	11	1	0			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr5:111754701G>T	uc003kpv.1	-	1	310	c.36C>A	c.(34-36)TAC>TAA	p.Y12*	EPB41L4A_uc003kpw.1_Nonsense_Mutation_p.Y12*|FLJ11235_uc003kpx.1_5'Flank	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	12	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AAACTTCGCAGTAAAATTCTT	0.612													T	111754701	G	T	111754701	4	4	121	1	0	0	0	0	0	1	0	0	5155	1024	36	5	2116	5	EPB41L4A	5	111754701	Nonsense_Mutation	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08	21750010	111754701	69160559	23	75101											
KIF20A	10112	broad.mit.edu	37	chr5	137521329	137521329	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttggcagcttctgcctcCacccagcagcttcaggaggt	12	13	2	0			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr5:137521329C>T	uc003lcj.2	+	16	2551	c.2055C>T	c.(2053-2055)TCC>TCT	p.S685S	KIF20A_uc011cyo.1_Silent_p.S667S	NM_005733	NP_005724	O95235	KI20A_HUMAN	kinesin family member 20A	685	Potential.				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTTCTGCCTCCACCCAGCAGC	0.507													T	137521329	C	T	137521329	2	4	121	1	0	0	0	0	0	0	0	1	8286	581	21	4		4	KIF20A	5	137521329	Silent	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08	25766628	137521329	43393931	24	75102											
PCDHGA10	56106	broad.mit.edu	37	chr5	140793840	140793840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgactgaagattcacctctGggaacagtcgtagccctttt	10	10	2	3			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr5:140793840G>A	uc003lkl.1	+	1	1098	c.1098G>A	c.(1096-1098)CTG>CTA	p.L366L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.L366L	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	366	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)			ATTCACCTCTGGGAACAGTCG	0.403													A	140793840	G	A	140793840	2	1	121	1	0	0	0	0	0	0	0	1	11551	1335	47	4		4	PCDHGA10	5	140793840	Silent	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08	3272511	140793840	40121420	25	75103											
FBXW11	23291	broad.mit.edu	37	chr5	171295748	171295748	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagtgtcatcatgggagctgCtgatgatctgaaactcatca	10	8	5	3			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr5:171295748C>A	uc003mbm.1	-	12	1891	c.1520G>T	c.(1519-1521)AGC>ATC	p.S507I	FBXW11_uc011dey.1_Missense_Mutation_p.S475I|FBXW11_uc003mbl.1_Missense_Mutation_p.S494I|FBXW11_uc003mbn.1_Missense_Mutation_p.S473I	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11 isoform	507	WD 7.				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)|breast(1)	2	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATGGGAGCTGCTGATGATCTG	0.423													A	171295748	C	A	171295748	3	1	121	1	0	0	0	0	1	0	0	0	5764	797	28	5	112	5	FBXW11	5	171295748	Missense_Mutation	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08	30501908	171295748	9619512	26	75104											
HIST1H1B	3009	broad.mit.edu	37	chr6	27834714	27834716	+	In_Frame_Del	DEL	CGG	CGG	-													gctttgggctttgccgccttCggcttaactgccttgggctt							TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr6:27834713_27834715TCGG>T	uc003njx.3	-	0	645_647	c.593_595CCGA>A	c.(592-597)ccgaag>cAag	p.198_199PK>Q		NM_005322	NP_005313	P16401	H15_HUMAN	Homo sapiens histone cluster 1, H1b (HIST1H1B), mRNA.	198					nucleosome assembly	nucleosome|nucleus	DNA binding	p.P198P(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTTGCCGCCTTCGGCTTAACTGC	0.562													-	27834716	CGG	-	27834714	7	5	121	1	0	1	0	1	0	0	0	0	7123	871	31	0	90	0	HIST1H1B	6	27834714	In_Frame_Del	DEL	CGG	TCGA-BR-A4J1-01A-11D-A25D-08		27834714	143280353	27	75105											
BAI3	577	broad.mit.edu	37	chr6	70042817	70042817	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgtttctgtttgacaggtCaacatggtgattggcatttt	10	5	2	2			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr6:70042817C>T	uc003pev.3	+	24	3553	c.3105C>T	c.(3103-3105)GTC>GTT	p.V1035V	BAI3_uc010kak.2_Silent_p.V1035V|BAI3_uc011dxx.1_Silent_p.V241V|BAI3_uc003pex.1_Silent_p.V165V	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1035	Helical; Name=5; (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TTTGACAGGTCAACATGGTGA	0.383													T	70042817	C	T	70042817	2	4	121	1	0	0	0	0	0	0	0	1	1300	813	29	4		4	BAI3	6	70042817	Silent	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08	42208103	70042817	101072250	28	75106											
KCNQ5	56479	broad.mit.edu	37	chr6	73904416	73904416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcctgcagttcattctgaCgccaaatgagttcagtgccc	10	12	3	2			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr6:73904416C>T	uc003pgk.2	+	14	2425	c.2078C>T	c.(2077-2079)ACG>ATG	p.T693M	KCNQ5_uc011dyh.1_Missense_Mutation_p.T712M|KCNQ5_uc011dyi.1_Missense_Mutation_p.T703M|KCNQ5_uc010kat.2_Missense_Mutation_p.T684M|KCNQ5_uc011dyj.1_Missense_Mutation_p.T583M|KCNQ5_uc011dyk.1_Missense_Mutation_p.T443M	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	693					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTCATTCTGACGCCAAATGAG	0.502													T	73904416	C	T	73904416	3	4	121	1	0	0	0	0	1	0	0	0	8086	536	19	1	2193	1	KCNQ5	6	73904416	Missense_Mutation	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08	3861599	73904416	97210651	29	75107											
PAPOLB	56903	broad.mit.edu	37	chr7	4901375	4901375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagactgataggcgaggagaCgccgtagcgattcggcggcg	17	9	0	3			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr7:4901375C>T	uc003snk.2	-	1	251	c.67G>A	c.(67-69)GTC>ATC	p.V23I	RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	22					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		GGCGAGGAGACGCCGTAGCGA	0.662													T	4901375	C	T	4901375	3	4	121	1	0	0	0	0	1	0	0	0	11430	536	19	1	1850	1	PAPOLB	7	4901375	Missense_Mutation	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08		4901375	154237288	30	75108											
PHF14	9678	broad.mit.edu	37	chr7	11091378	11091378	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttccacaggatgtgccaccaGaacccaagaagattccgata	8	12	0	3			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr7:11091378G>C	uc003sry.1	+	14	2887	c.2452G>C	c.(2452-2454)GAA>CAA	p.E818Q	PHF14_uc011jxi.1_Missense_Mutation_p.E533Q|PHF14_uc003srz.2_Missense_Mutation_p.E818Q|PHF14_uc011jxj.1_Missense_Mutation_p.E533Q	NM_014660	NP_055475	O94880	PHF14_HUMAN	PHD finger protein 14 isoform 2	818							zinc ion binding			kidney(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGTGCCACCAGAACCCAAGAA	0.403													C	11091378	G	C	11091378	3	2	121	1	0	0	0	0	1	0	0	0	11825	943	33	5	2506	5	PHF14	7	11091378	Missense_Mutation	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08	6190003	11091378	148047285	31	75109											
CDK13	8621	broad.mit.edu	37	chr7	40132775	40132775	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagaagagagggaaaatggAtcgggacatgaagcgtcatt	14	5	1	3			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr7:40132775A>C	uc003thh.3	+	13	3909	c.3627A>C	c.(3625-3627)GGA>GGC	p.G1209G	CDK13_uc003thi.3_Silent_p.G1149G|CDK13_uc003thj.2_Silent_p.G260G|CDK13_uc003thk.2_Silent_p.G142G	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1209					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						GGGAAAATGGATCGGGACATG	0.493													C	40132775	A	C	40132775	2	2	121	1	0	0	0	0	0	0	0	1	3129	320	12	5		5	CDK13	7	40132775	Silent	SNP	A	TCGA-BR-A4J1-01A-11D-A25D-08	29041397	40132775	119005888	32	75110											
TAF6	6878	broad.mit.edu	37	chr7	99709580	99709580	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtactgaaccgtggcagcaTctgatacagtccagggtccg	13	11	1	2			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr7:99709580T>C	uc003uti.2	-	8	844	c.763A>G	c.(763-765)ATG>GTG	p.M255V	TAF6_uc003utg.2_Missense_Mutation_p.M177V|TAF6_uc003uth.2_Missense_Mutation_p.M312V|TAF6_uc003utk.2_Missense_Mutation_p.M255V|TAF6_uc011kji.1_Missense_Mutation_p.M292V|TAF6_uc003utj.2_Missense_Mutation_p.M245V|TAF6_uc003utl.2_Missense_Mutation_p.M255V|TAF6_uc003utm.2_Missense_Mutation_p.M255V|TAF6_uc003utn.1_RNA	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	255					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGTGGCAGCATCTGATACAGT	0.602													C	99709580	T	C	99709580	3	2	121	1	0	0	0	0	1	0	0	0	15527	1435	50	3	1302	3	TAF6	7	99709580	Missense_Mutation	SNP	T	TCGA-BR-A4J1-01A-11D-A25D-08	59576805	99709580	59429083	33	75111											
KCNU1	157855	broad.mit.edu	37	chr8	36644891	36644891	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccacttccagggacaatttcGtgatcatatagaaatgttgc	8	9	1	2			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr8:36644891G>C	uc010lvw.2	+	2	350	c.263G>C	c.(262-264)CGT>CCT	p.R88P	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	88	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GGACAATTTCGTGATCATATA	0.423													C	36644891	G	C	36644891	3	2	121	1	0	0	0	0	1	0	0	0	8093	1145	40	5	269	5	KCNU1	8	36644891	Missense_Mutation	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08		36644891	109719131	34	75112											
XKR4	114786	broad.mit.edu	37	chr8	56015173	56015173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccaggcttgccgtcggggtCgggagccgaggacgaggagg	20	10	0	0			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr8:56015173C>T	uc003xsf.2	+	1	157	c.125C>T	c.(124-126)TCG>TTG	p.S42L		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	42						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			CCGTCGGGGTCGGGAGCCGAG	0.368													T	56015173	C	T	56015173	3	4	121	1	0	0	0	0	1	0	0	0	17430	893	31	1	127	1	XKR4	8	56015173	Missense_Mutation	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08	19370282	56015173	90348849	35	75113											
OXR1	55074	broad.mit.edu	37	chr8	107691447	107691447	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttttcccagacactggccAaaagaagaccctagacaaga	7	11	0	5			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr8:107691447A>C	uc011lht.1	+	3	332	c.233A>C	c.(232-234)CAA>CCA	p.Q78P	OXR1_uc003ymf.2_Missense_Mutation_p.Q77P|OXR1_uc011lhu.1_Missense_Mutation_p.Q70P|OXR1_uc010mcg.2_Intron|OXR1_uc003ymg.1_Missense_Mutation_p.Q10P|OXR1_uc003ymi.1_5'UTR	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	78					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GACACTGGCCAAAAGAAGACC	0.368													C	107691447	A	C	107691447	3	2	121	1	0	0	0	0	1	0	0	0	11334	130	5	5	443	5	OXR1	8	107691447	Missense_Mutation	SNP	A	TCGA-BR-A4J1-01A-11D-A25D-08	51676274	107691447	38672575	36	75114											
FLJ43860	389690	broad.mit.edu	37	chr8	142487931	142487931	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actcgtagctgtgggcgcccTcactccggctcaccgcaccc	10	19	2	0			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr8:142487931T>G	uc003ywi.2	-	11	1391	c.1310A>C	c.(1309-1311)GAG>GCG	p.E437A	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	437							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GTGGGCGCCCTCACTCCGGCT	0.642													G	142487931	T	G	142487931	3	3	121	1	0	0	0	0	1	0	0	0	5930	1551	54	5	2726	5	FLJ43860	8	142487931	Missense_Mutation	SNP	T	TCGA-BR-A4J1-01A-11D-A25D-08	34796484	142487931	3876091	37	75115											
PLEC	5339	broad.mit.edu	37	chr8	145009469	145009469	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtacaccttgttcatgtcGatgagcaggggcctgggaca	14	10	1	1			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr8:145009469G>A	uc003zaf.1	-	7	1196	c.1026C>T	c.(1024-1026)ATC>ATT	p.I342I	PLEC_uc003zab.1_Silent_p.I205I|PLEC_uc003zac.1_Silent_p.I209I|PLEC_uc003zad.2_Silent_p.I205I|PLEC_uc003zae.1_Silent_p.I173I|PLEC_uc003zag.1_Silent_p.I183I|PLEC_uc003zah.2_Silent_p.I191I|PLEC_uc003zaj.2_Silent_p.I232I	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	342	CH 2.|Globular 1.|Actin-binding.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TGTTCATGTCGATGAGCAGGG	0.657													A	145009469	G	A	145009469	2	1	121	1	0	0	0	0	0	0	0	1	12052	1048	37	1		1	PLEC	8	145009469	Silent	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08	2521538	145009469	1354553	38	75116											
OPLAH	26873	broad.mit.edu	37	chr8	145109753	145109753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctggcaggtggctgccccCggcactgggatggttgctca	16	12	2	0	rs11777194		TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr8:145109753C>T	uc003zar.3	-	18	2555	c.2473G>A	c.(2473-2475)GGG>AGG	p.G825R	OPLAH_uc003zas.1_Missense_Mutation_p.G74R	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	825							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TGGCTGCCCCCGGCACTGGGA	0.642													T	145109753	C	T	145109753	3	4	121	1	0	0	0	0	1	0	0	0	10876	652	23	1	1435	1	OPLAH	8	145109753	Missense_Mutation	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08	100284	145109753	1254269	39	75117											
KIAA1462	57608	broad.mit.edu	37	chr10	30336633	30336633	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggccctggcctgctcgtgTcccagtcctcgctgcctggc	12	18	0	0			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr10:30336633T>C	uc001iux.2	-	1	168	c.109A>G	c.(109-111)ACA>GCA	p.T37A	KIAA1462_uc001iuy.2_Missense_Mutation_p.T37A|KIAA1462_uc001iuz.2_5'UTR|KIAA1462_uc009xle.1_Missense_Mutation_p.T37A	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	37										ovary(4)	4						CCTGCTCGTGTCCCAGTCCTC	0.617													C	30336633	T	C	30336633	3	2	121	1	0	0	0	0	1	0	0	0	8234	1667	58	3	3982	3	KIAA1462	10	30336633	Missense_Mutation	SNP	T	TCGA-BR-A4J1-01A-11D-A25D-08		30336633	105198114	40	75118											
SLIT1	6585	broad.mit.edu	37	chr10	98778863	98778863	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggacagccagcgttggaggAcctgcagcaaggggagggtg	19	8	0	0			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr10:98778863A>G	uc001kmw.2	-	27	3000	c.2748T>C	c.(2746-2748)GGT>GGC	p.G916G		NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	916	LRRCT 4.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCGTTGGAGGACCTGCAGCAA	0.632													G	98778863	A	G	98778863	2	3	121	1	0	0	0	0	0	0	0	1	14739	289	10	3		3	SLIT1	10	98778863	Silent	SNP	A	TCGA-BR-A4J1-01A-11D-A25D-08	68442230	98778863	36755884	41	75119											
ATRNL1	26033	broad.mit.edu	37	chr10	117040941	117040941	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taccagctgtaaaagctgttCactaaacttgaattgccagt	7	9	1	1			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr10:117040941C>T	uc001lcg.2	+	14	2563	c.2177C>T	c.(2176-2178)TCA>TTA	p.S726L		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	726	PSI 3.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AAAAGCTGTTCACTAAACTTG	0.358													T	117040941	C	T	117040941	3	4	121	1	0	0	0	0	1	0	0	0	1207	838	29	4	2231	4	ATRNL1	10	117040941	Missense_Mutation	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08	18262078	117040941	18493806	42	75120											
HBD	3045	broad.mit.edu	37	chr11	5254296	5254297	+	Frame_Shift_Ins	INS	-	-	A													tgccaaagttgcgggccagcINSacacacaccagcacattgcc							TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr11:5254296_5254297insA	uc001maf.1	-	3	536_537	c.341_342insT	c.(340-342)GTGfs	p.V114fs		NM_000519	NP_000510	P02042	HBD_HUMAN	delta globin	114					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCGGGCCAGCACACACACCAG	0.515													A	5254297	-	A	5254296	7	5	121	1	0	1	1	0	0	0	0	0	6979	697	25	0	105	0	HBD	11	5254296	Frame_Shift_Ins	INS	-	TCGA-BR-A4J1-01A-11D-A25D-08		5254296	129752220	43	75121	337	3									
HBD	3045	broad.mit.edu	37	chr11	5254297	5254298	+	Frame_Shift_Ins	INS	-	-	A													gccaaagttgcgggccagcaINScacacaccagcacattgccc							TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr11:5254296_5254297C>CA	uc001maf.1	-	2	536_537	c.341_342G>TG	c.(340-342)gtgfs	p.V114fs		NM_000519	NP_000510	P02042	HBD_HUMAN	Homo sapiens hemoglobin, delta (HBD), mRNA.	114					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCGGGCCAGCACACACACCAG	0.515													A	5254298	-	A	5254297	7	5	121	1	0	1	1	0	0	0	0	0	6979	159	6	0	106	0	HBD	11	5254297	Frame_Shift_Ins	INS	-	TCGA-BR-A4J1-01A-11D-A25D-08	1	5254297	129752219	44	75122	337	3									
HBD	3045	broad.mit.edu	37	chr11	5254304	5254304	+	Missense_Mutation	SNP	C	C	A													gttgcgggccagcacacacaCcagcacattgcccaagagct							TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr11:5254304C>A	uc001maf.1	-	3	529	c.334G>T	c.(334-336)GTG>TTG	p.V112L		NM_000519	NP_000510	P02042	HBD_HUMAN	delta globin	112					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCACACACACCAGCACATTG	0.522													A	5254304	C	A	5254304	3	1	121	1	0	0	0	0	1	0	0	0	6979	507	18	5	113	5	HBD	11	5254304	Missense_Mutation	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08	7	5254304	129752212	45	75123	337	3									
C11orf49	79096	broad.mit.edu	37	chr11	46958381	46958381	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtccggagcgcctagccCtaccggactacgagtatctg	12	13	1	1	rs142532345	byFrequency	TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr11:46958381C>T	uc001ndp.2	+	1	131	c.25C>T	c.(25-27)CTA>TTA	p.L9L	C11orf49_uc001nds.2_Silent_p.L9L|C11orf49_uc001ndq.2_Silent_p.L9L|C11orf49_uc001ndr.2_Silent_p.L9L|C11orf49_uc010rgx.1_5'UTR|C11orf49_uc010rgy.1_Missense_Mutation_p.P34L|C11orf49_uc010rgz.1_5'UTR	NM_024113	NP_077018	Q9H6J7	CK049_HUMAN	hypothetical protein LOC79096 isoform 3	9											0						GCGCCTAGCCCTACCGGACTA	0.617													T	46958381	C	T	46958381	2	4	121	1	0	0	0	0	0	0	0	1	1645	680	24	4		4	C11orf49	11	46958381	Silent	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08	41704077	46958381	88048135	46	75124											
OR6M1	390261	broad.mit.edu	37	chr11	123676616	123676616	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacagacaggaaggctcccaCccagcatcccagaaccagca	8	17	0	2			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr11:123676616C>G	uc010rzz.1	-	1	442	c.442G>C	c.(442-444)GTG>CTG	p.V148L		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M,	148	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AAGGCTCCCACCCAGCATCCC	0.502													G	123676616	C	G	123676616	3	3	121	1	0	0	0	0	1	0	0	0	11205	507	18	5	502	5	OR6M1	11	123676616	Missense_Mutation	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08	76718235	123676616	11329900	47	75125											
AKAP3	10566	broad.mit.edu	37	chr12	4747358	4747358	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtaaccagtcaaccttttctGacatctggaagcaggggaaa	10	9	3	1			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr12:4747358G>A	uc001qnb.3	-	3	234	c.5C>T	c.(4-6)TCA>TTA	p.S2L		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	2					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						AACCTTTTCTGACATCTGGAA	0.428													A	4747358	G	A	4747358	3	1	121	1	0	0	0	0	1	0	0	0	452	1294	45	4	2568	4	AKAP3	12	4747358	Missense_Mutation	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08		4747358	129104537	48	75126											
CLEC9A	283420	broad.mit.edu	37	chr12	10217429	10217429	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacgctggctttggcaagaTggctcctctccttctcctgg	12	13	2	1			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr12:10217429T>G	uc001qxa.2	+	8	1183	c.570T>G	c.(568-570)GAT>GAG	p.D190E		NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	190	Extracellular (Potential).|C-type lectin.				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			ovary(1)	1						TTTGGCAAGATGGCTCCTCTC	0.448													G	10217429	T	G	10217429	3	3	121	1	0	0	0	0	1	0	0	0	3522	1461	51	5	588	5	CLEC9A	12	10217429	Missense_Mutation	SNP	T	TCGA-BR-A4J1-01A-11D-A25D-08	5470071	10217429	123634466	49	75127											
PDE3A	5139	broad.mit.edu	37	chr12	20522996	20522996	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtacgtggaacaaatcttgCcgcagtccgcggaggcggct	15	11	1	0			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr12:20522996C>A	uc001reh.1	+	1	800	c.778C>A	c.(778-780)CCG>ACG	p.P260T		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	260					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ACAAATCTTGCCGCAGTCCGC	0.597													A	20522996	C	A	20522996	3	1	121	1	0	0	0	0	1	0	0	0	11637	739	26	5	780	5	PDE3A	12	20522996	Missense_Mutation	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08	10305567	20522996	113328899	50	75128											
KRT8	3856	broad.mit.edu	37	chr12	53292550	53292550	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatcagctcctggtactcaCgcagctgccgcgccatgtcc	9	17	3	0			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr12:53292550C>A	uc001sbd.2	-	6	1218	c.1115G>T	c.(1114-1116)CGT>CTT	p.R372L	KRT8_uc009zmj.2_Intron|KRT8_uc009zmk.1_Missense_Mutation_p.R400L|KRT8_uc009zml.1_Missense_Mutation_p.R372L|KRT8_uc009zmm.1_Missense_Mutation_p.R372L	NM_002273	NP_002264	P05787	K2C8_HUMAN	keratin 8	372	Necessary for interaction with PNN.|Rod.|Coil 2.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGGTACTCACGCAGCTGCCG	0.642													A	53292550	C	A	53292550	3	1	121	1	0	0	0	0	1	0	0	0	8493	536	19	5	348	5	KRT8	12	53292550	Missense_Mutation	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08	32769554	53292550	80559345	51	75129											
CEP290	80184	broad.mit.edu	37	chr12	88478386	88478386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggctttttctagaagacGttgatacttctttaatactt	6	7	3	3			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr12:88478386G>A	uc001tar.2	-	35	5025	c.4681C>T	c.(4681-4683)CGT>TGT	p.R1561C	CEP290_uc001taq.2_Missense_Mutation_p.R621C	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1561	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						TCTAGAAGACGTTGATACTTC	0.299													A	88478386	G	A	88478386	3	1	121	1	0	0	0	0	1	0	0	0	3253	1145	40	1	2838	1	CEP290	12	88478386	Missense_Mutation	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08	35185836	88478386	45373509	52	75130											
CUX2	23316	broad.mit.edu	37	chr12	111758322	111758322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccctgtgccccccgaggacGaggcggcggcaggggcggag	19	15	0	0			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr12:111758322G>A	uc001tsa.1	+	17	2662	c.2509G>A	c.(2509-2511)GAG>AAG	p.E837K		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	837						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						CCCCGAGGACGAGGCGGCGGC	0.776													A	111758322	G	A	111758322	3	1	121	1	0	0	0	0	1	0	0	0	4065	1059	37	1	2575	1	CUX2	12	111758322	Missense_Mutation	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08	23279936	111758322	22093573	53	75131											
CIT	11113	broad.mit.edu	37	chr12	120166313	120166313	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tatttcacactcacctcttcCagaagcctctgtttgagctc	5	14	4	2			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr12:120166313C>G	uc001txi.1	-	27	3512	c.3459G>C	c.(3457-3459)CTG>CTC	p.L1153L	CIT_uc001txh.1_Silent_p.L687L|CIT_uc001txj.1_Silent_p.L1195L	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1153	Potential.|Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCACCTCTTCCAGAAGCCTCT	0.353													G	120166313	C	G	120166313	2	3	121	1	0	0	0	0	0	0	0	1	3438	581	21	5		5	CIT	12	120166313	Silent	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08	8407991	120166313	13685582	54	75132											
TDRD3	81550	broad.mit.edu	37	chr13	61103082	61103082	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttaatgtaaatactgattatCagaatccagttcgaagtaat	6	5	1	2			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr13:61103082C>T	uc001via.2	+	11	2232	c.1444C>T	c.(1444-1446)CAG>TAG	p.Q482*	TDRD3_uc010aef.2_Nonsense_Mutation_p.Q307*|TDRD3_uc001vhz.3_Nonsense_Mutation_p.Q482*|TDRD3_uc010aeg.2_Nonsense_Mutation_p.Q575*|TDRD3_uc001vib.3_Nonsense_Mutation_p.Q481*	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	482					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TACTGATTATCAGAATCCAGT	0.323													T	61103082	C	T	61103082	4	4	121	1	0	0	0	0	0	1	0	0	15729	827	29	4	1765	4	TDRD3	13	61103082	Nonsense_Mutation	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08		61103082	54066796	55	75133											
SLITRK6	84189	broad.mit.edu	37	chr13	86369349	86369349	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attcaagattatggagaccaAggaacatgcctttacttaat	7	7	1	2			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr13:86369349A>C	uc001vll.1	-	2	1754	c.1295T>G	c.(1294-1296)CTT>CGT	p.L432R	SLITRK6_uc010afe.1_Intron	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	432	Extracellular (Potential).|LRR 8.					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATGGAGACCAAGGAACATGCC	0.343													C	86369349	A	C	86369349	3	2	121	1	0	0	0	0	1	0	0	0	14747	72	3	5	1234	5	SLITRK6	13	86369349	Missense_Mutation	SNP	A	TCGA-BR-A4J1-01A-11D-A25D-08	25266267	86369349	28800529	56	75134											
FAM155A	728215	broad.mit.edu	37	chr13	108518657	108518657	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caggagggctcctgctgccgCcgctgctgctgctgctgctg	15	15	0	0			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr13:108518657C>G	uc001vql.2	-	1	804	c.288G>C	c.(286-288)CGG>CGC	p.R96R		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	96						integral to membrane	binding			skin(1)	1						cctgctgccgccgctgctgct	0.413													G	108518657	C	G	108518657	2	3	121	1	0	0	0	0	0	0	0	1	5465	726	26	5		5	FAM155A	13	108518657	Silent	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08	22149308	108518657	6651221	57	75135											
C14orf21	161424	broad.mit.edu	37	chr14	24771558	24771558	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacttgcaggggcagctgcaGaccctggctgcacatcccat	11	15	0	1			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr14:24771558G>A	uc001wol.1	+	5	1134	c.1071G>A	c.(1069-1071)CAG>CAA	p.Q357Q	C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.1_5'Flank|DHRS1_uc001wok.2_5'Flank	NM_174913	NP_777573	Q86U38	CN021_HUMAN	hypothetical protein LOC161424	357	Pumilio 4.						RNA binding			breast(2)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(265;0.0185)		GGCAGCTGCAGACCCTGGCTG	0.522													A	24771558	G	A	24771558	2	1	121	1	0	0	0	0	0	0	0	1	1769	933	33	4		4	C14orf21	14	24771558	Silent	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08		24771558	82577982	58	75136											
C14orf106	55320	broad.mit.edu	37	chr14	45705143	45705143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccaatatatgttagtgaCgtctctaggaaaaaaaaata	8	5	1	1			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr14:45705143C>T	uc001wwf.2	-	6	1681	c.1222G>A	c.(1222-1224)GTC>ATC	p.V408I	C14orf106_uc010anh.2_RNA	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	408					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						ATGTTAGTGACGTCTCTAGGA	0.299													T	45705143	C	T	45705143	3	4	121	1	0	0	0	0	1	0	0	0	1738	536	19	1	2224	1	C14orf106	14	45705143	Missense_Mutation	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08	20933585	45705143	61644397	59	75137											
NEO1	4756	broad.mit.edu	37	chr15	73528822	73528822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaccttacctactctgtgTtctacaccaaggaagggatt	7	11	2	0			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr15:73528822T>C	uc002avm.3	+	8	1568	c.1426T>C	c.(1426-1428)TTC>CTC	p.F476L	NEO1_uc010ukx.1_Missense_Mutation_p.F476L|NEO1_uc010uky.1_Missense_Mutation_p.F476L|NEO1_uc010ukz.1_5'UTR|NEO1_uc002avn.3_Missense_Mutation_p.F141L	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	476	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						CTACTCTGTGTTCTACACCAA	0.557													C	73528822	T	C	73528822	3	2	121	1	0	0	0	0	1	0	0	0	10336	1725	60	3	1456	3	NEO1	15	73528822	Missense_Mutation	SNP	T	TCGA-BR-A4J1-01A-11D-A25D-08		73528822	29002570	60	75138											
DHX8	1659	broad.mit.edu	37	chr17	41584527	41584527	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctatgtcggtggccaaaAgagtgtcagaggagtttggt	15	6	1	2			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr17:41584527A>G	uc002idu.1	+	13	1958	c.1885A>G	c.(1885-1887)AGA>GGA	p.R629G	DHX8_uc010wif.1_Missense_Mutation_p.R538G|DHX8_uc010wig.1_Missense_Mutation_p.R629G	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	629	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGTGGCCAAAAGAGTGTCAGA	0.517													G	41584527	A	G	41584527	3	3	121	1	0	0	0	0	1	0	0	0	4515	64	3	3	1935	3	DHX8	17	41584527	Missense_Mutation	SNP	A	TCGA-BR-A4J1-01A-11D-A25D-08		41584527	39610683	61	75139											
SCN4A	6329	broad.mit.edu	37	chr17	62025364	62025364	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtaggtgaagaccttgtcGgcatattctaggatggtgcg	14	6	1	2			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr17:62025364G>T	uc002jds.1	-	17	3281	c.3204C>A	c.(3202-3204)GCC>GCA	p.A1068A		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1068	III.|Helical; Name=S2 of repeat III; (Potential).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	AGACCTTGTCGGCATATTCTA	0.567													T	62025364	G	T	62025364	2	4	121	1	0	0	0	0	0	0	0	1	13920	1103	39	5		5	SCN4A	17	62025364	Silent	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08	20440837	62025364	19169846	62	75140											
DLGAP1	9229	broad.mit.edu	37	chr18	3581872	3581872	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatagaaagggaggctgttaCctgtatcccgatagacaggc	13	8	0	2			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr18:3581872C>G	uc002kmf.2	-	5	2032	c.1965_splice	c.e5+1	p.Q655_splice	DLGAP1_uc010wyz.1_Splice_Site_p.Q655_splice|DLGAP1_uc002kme.1_Splice_Site_p.Q353_splice|DLGAP1_uc010dkn.2_Splice_Site_p.Q363_splice|DLGAP1_uc010wyw.1_Splice_Site_p.Q361_splice|DLGAP1_uc010wyx.1_Splice_Site_p.Q377_splice|DLGAP1_uc010wyy.1_Splice_Site_p.Q339_splice|DLGAP1_uc002kmg.2_Splice_Site_p.Q353_splice	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform						synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				GAGGCTGTTACCTGTATCCCG	0.333													G	3581872	C	G	3581872	5	3	121	1	0	0	0	0	0	0	1	0	4559	521	18	5	991	5	DLGAP1	18	3581872	Splice_Site	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08		3581872	74495376	63	75141											
CCDC102B	79839	broad.mit.edu	37	chr18	66513583	66513583	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaaaagaaatagagagActggagtcggctttgtctct	12	5	1	3			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr18:66513583A>G	uc002lkk.2	+	6	1084	c.861A>G	c.(859-861)AGA>AGG	p.R287R	CCDC102B_uc002lki.2_Silent_p.R287R|CCDC102B_uc002lkj.1_Silent_p.R287R	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	287	Potential.									ovary(1)|lung(1)|skin(1)	3		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AAATAGAGAGACTGGAGTCGG	0.343													G	66513583	A	G	66513583	2	3	121	1	0	0	0	0	0	0	0	1	2737	272	10	3		3	CCDC102B	18	66513583	Silent	SNP	A	TCGA-BR-A4J1-01A-11D-A25D-08	62931711	66513583	11563665	64	75142											
UHRF1	29128	broad.mit.edu	37	chr19	4930857	4930857	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cgtccaggccggcgctggagGaggacgtcatttaccacgtg	15	12	1	0			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr19:4930857G>C	uc002mbo.2	+	4	706	c.538G>C	c.(538-540)GAG>CAG	p.E180Q	UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.E193Q	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	180					cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GGCGCTGGAGGAGGACGTCAT	0.652													C	4930857	G	C	4930857	3	2	121	1	0	0	0	0	1	0	0	0	16964	1175	41	5	587	5	UHRF1	19	4930857	Missense_Mutation	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08		4930857	54198126	65	75143											
ZNF574	64763	broad.mit.edu	37	chr19	42584467	42584467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacactgaggcagcaccGcttggtgcatgcccagcact	10	16	0	1			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr19:42584467G>A	uc002osm.3	+	2	1878	c.1709G>A	c.(1708-1710)CGC>CAC	p.R570H	ZNF574_uc002osk.3_Missense_Mutation_p.R660H	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	570	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				AGGCAGCACCGCTTGGTGCAT	0.627													A	42584467	G	A	42584467	3	1	121	1	0	0	0	0	1	0	0	0	18003	1087	38	1	1711	1	ZNF574	19	42584467	Missense_Mutation	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08	37653610	42584467	16544516	66	75144											
PSG7	5676	broad.mit.edu	37	chr19	43430856	43430856	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tattgatggtgatgtagggcTtgggcagcttcgctgtgtga	16	5	0	3			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr19:43430856T>A	uc002ovl.3	-	5	824	c.722A>T	c.(721-723)AAG>ATG	p.K241M	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.K119M	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	241	Ig-like C2-type 2.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				GATGTAGGGCTTGGGCAGCTT	0.473													A	43430856	T	A	43430856	3	1	121	1	0	0	0	0	1	0	0	0	12660	1609	56	5	549	5	PSG7	19	43430856	Missense_Mutation	SNP	T	TCGA-BR-A4J1-01A-11D-A25D-08	846389	43430856	15698127	67	75145											
ZNF701	55762	broad.mit.edu	37	chr19	53086109	53086109	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgccatagatgtcacactgGtgagaatccttacacgtgta	9	9	1	2			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr19:53086109G>T	uc002pzs.1	+	4	924	c.797G>T	c.(796-798)GGT>GTT	p.G266V	ZNF701_uc010ydn.1_Missense_Mutation_p.G332V	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	zinc finger protein 701	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TGTCACACTGGTGAGAATCCT	0.418													T	53086109	G	T	53086109	3	4	121	1	0	0	0	0	1	0	0	0	18102	1261	44	5	1009	5	ZNF701	19	53086109	Missense_Mutation	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08	9655253	53086109	6042874	68	75146											
CNOT3	4849	broad.mit.edu	37	chr19	54647253	54647253	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggagattaagaagctacaaGtgagggggctgggggcctgg	19	5	0	3			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr19:54647253G>C	uc002qdj.1	+	4	479	c.168_splice	c.e4+1	p.Q56_splice	CNOT3_uc010yel.1_Splice_Site_p.Q56_splice|CNOT3_uc002qdi.2_Splice_Site|CNOT3_uc002qdk.1_Splice_Site_p.Q56_splice|CNOT3_uc010ere.1_5'Flank	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAAGCTACAAGTGAGGGGGCT	0.338													C	54647253	G	C	54647253	5	2	121	1	0	0	0	0	0	0	1	0	3620	1043	36	5	179	5	CNOT3	19	54647253	Splice_Site	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08	1561144	54647253	4481730	69	75147											
TRIM28	10155	broad.mit.edu	37	chr19	59060921	59060921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacagtgccaccatttgccGtgtctgccagaagccaggcg	12	13	1	2			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr19:59060921G>A	uc002qtg.1	+	13	2175	c.1886G>A	c.(1885-1887)CGT>CAT	p.R629H	TRIM28_uc010eut.1_Missense_Mutation_p.R547H|TRIM28_uc002qth.1_Missense_Mutation_p.R244H	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	629	PHD-type.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ACCATTTGCCGTGTCTGCCAG	0.612													A	59060921	G	A	59060921	3	1	121	1	0	0	0	0	1	0	0	0	16499	1145	40	1	1936	1	TRIM28	19	59060921	Missense_Mutation	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08	4413668	59060921	68062	70	75148											
SIRPB1	10326	broad.mit.edu	37	chr20	1551635	1551635	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatccttgttctctatgagGgtcgaagctgtttctgtccg	10	11	2	1			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr20:1551635G>T	uc010gai.2	-	4	999	c.900C>A	c.(898-900)ACC>ACA	p.T300T	SIRPB1_uc002wfk.3_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1 isoform 1	300	Ig-like C1-type 2.|Extracellular (Potential).				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			ovary(1)	1						TCTCTATGAGGGTCGAAGCTG	0.562													T	1551635	G	T	1551635	2	4	121	1	0	0	0	0	0	0	0	1	14333	1219	43	5		5	SIRPB1	20	1551635	Silent	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08		1551635	61473885	71	75149											
RALGAPA2	57186	broad.mit.edu	37	chr20	20453517	20453517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttcacagccctgctggcGttgatgcacgtggcacatac	10	14	1	1			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr20:20453517G>A	uc002wrz.2	-	37	5594	c.5451C>T	c.(5449-5451)AAC>AAT	p.N1817N	RALGAPA2_uc010gcx.2_Silent_p.N1521N|RALGAPA2_uc010zsg.1_Silent_p.N1265N|RALGAPA2_uc002wsa.1_Silent_p.N589N	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1817	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						CCCTGCTGGCGTTGATGCACG	0.468													A	20453517	G	A	20453517	2	1	121	1	0	0	0	0	0	0	0	1	13014	1136	40	1		1	RALGAPA2	20	20453517	Silent	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08	18901882	20453517	42572003	72	75150											
BCAS1	8537	broad.mit.edu	37	chr20	52583568	52583568	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actgtttgtaaggctgattcTacttccttggactttataat	7	7	1	1			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr20:52583568T>A	uc002xws.2	-	9	1565	c.1227A>T	c.(1225-1227)GTA>GTT	p.V409V	BCAS1_uc010zza.1_Intron|BCAS1_uc010zzb.1_Silent_p.V357V|BCAS1_uc010gim.2_Intron|BCAS1_uc002xwt.2_Silent_p.V395V|BCAS1_uc010gil.1_Intron	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	409						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			AGGCTGATTCTACTTCCTTGG	0.418													A	52583568	T	A	52583568	2	1	121	1	0	0	0	0	0	0	0	1	1350	1509	53	5		5	BCAS1	20	52583568	Silent	SNP	T	TCGA-BR-A4J1-01A-11D-A25D-08	32130051	52583568	10441952	73	75151											
TFAP2C	7022	broad.mit.edu	37	chr20	55208570	55208570	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtggctgaagtacagaggCgactgtccccacctgaatgc	12	12	0	3			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr20:55208570C>T	uc002xya.2	+	4	991	c.748C>T	c.(748-750)CGA>TGA	p.R250*	TFAP2C_uc010zzi.1_Nonsense_Mutation_p.R81*	NM_003222	NP_003213	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma	250					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Colorectal(105;0.229)			AGTACAGAGGCGACTGTCCCC	0.502													T	55208570	C	T	55208570	4	4	121	1	0	0	0	0	0	1	0	0	15786	760	27	1	762	1	TFAP2C	20	55208570	Nonsense_Mutation	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08	2625002	55208570	7816950	74	75152											
DSCAM	1826	broad.mit.edu	37	chr21	41414474	41414474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacgtgtctgatatgaagCactccgtgatggtgaacttg	12	7	1	5			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr21:41414474C>T	uc002yyq.1	-	32	5962	c.5510G>A	c.(5509-5511)TGC>TAC	p.C1837Y	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1837	Cytoplasmic (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGATATGAAGCACTCCGTGAT	0.552													T	41414474	C	T	41414474	3	4	121	1	0	0	0	0	1	0	0	0	4768	710	25	2	536	2	DSCAM	21	41414474	Missense_Mutation	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08		41414474	6715421	75	75153											
BCL2L13	23786	broad.mit.edu	37	chr22	18210043	18210043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtggaggaggtggtccccGcactggaacccacagaaacg	14	11	0	1	rs139164101	byFrequency	TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chr22:18210043G>A	uc002zmw.2	+	7	1419	c.1201G>A	c.(1201-1203)GCA>ACA	p.A401T	BCL2L13_uc002zmx.2_Missense_Mutation_p.A239T|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Missense_Mutation_p.A239T|BCL2L13_uc011agk.1_Missense_Mutation_p.A277T|BCL2L13_uc010gqz.2_Missense_Mutation_p.A121T|BCL2L13_uc002zmz.2_Missense_Mutation_p.A239T|BCL2L13_uc002zna.2_Missense_Mutation_p.A121T	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	401	Glu-rich.				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)		GGTGGTCCCCGCACTGGAACC	0.522													A	18210043	G	A	18210043	3	1	121	1	0	0	0	0	1	0	0	0	1371	1087	38	1	1223	1	BCL2L13	22	18210043	Missense_Mutation	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08		18210043	33094523	76	75154											
NLGN4X	57502	broad.mit.edu	37	chrX	6069107	6069107	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttgaacataggtcatcaaaGtatccaaattggcggtaaac	8	8	2	1			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chrX:6069107G>C	uc010ndh.2	-	2	902	c.401C>G	c.(400-402)ACT>AGT	p.T134S	NLGN4X_uc004crp.2_Missense_Mutation_p.T134S|NLGN4X_uc004crq.2_Missense_Mutation_p.T134S|NLGN4X_uc010ndi.2_Missense_Mutation_p.T134S|NLGN4X_uc004crr.2_Missense_Mutation_p.T134S|NLGN4X_uc010ndj.2_Missense_Mutation_p.T134S	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	134	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						GGTCATCAAAGTATCCAAATT	0.453													C	6069107	G	C	6069107	3	2	121	1	0	0	0	0	1	0	0	0	10464	1029	36	5	2069	5	NLGN4X	23	6069107	Missense_Mutation	SNP	G	TCGA-BR-A4J1-01A-11D-A25D-08		6069107	149201453	77	75155											
KLHL13	90293	broad.mit.edu	37	chrX	117032969	117032969	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acgaatgccaccaagggattCtggcagatcaaaaaccttat	8	10	2	1			TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chrX:117032969C>A	uc004eql.2	-	7	1932	c.1870G>T	c.(1870-1872)GAA>TAA	p.E624*	KLHL13_uc004eqk.2_Nonsense_Mutation_p.E573*|KLHL13_uc011mtn.1_Nonsense_Mutation_p.E464*|KLHL13_uc011mto.1_Nonsense_Mutation_p.E618*|KLHL13_uc011mtp.1_Nonsense_Mutation_p.E626*|KLHL13_uc004eqm.2_Nonsense_Mutation_p.E573*|KLHL13_uc011mtq.1_Nonsense_Mutation_p.E608*	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	624	Kelch 6.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)|skin(1)	2						CCAAGGGATTCTGGCAGATCA	0.438													A	117032969	C	A	117032969	4	1	121	1	0	0	0	0	0	1	0	0	8369	922	32	5	101	5	KLHL13	23	117032969	Nonsense_Mutation	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08	110963862	117032969	38237591	78	75156											
DOCK11	139818	broad.mit.edu	37	chrX	117796673	117796673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcctaacggatgttcagCgttcaagaaaattactccca	6	10	2	1	rs146074785		TCGA-BR-A4J1-01A-11D-A25D-08	TCGA-BR-A4J1-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d994319-688e-483d-8df3-0dcbfbaf836a	5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb	g.chrX:117796673C>T	uc004eqp.2	+	45	5057	c.4994C>T	c.(4993-4995)GCG>GTG	p.A1665V	DOCK11_uc004eqq.2_Missense_Mutation_p.A1444V	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1665	DHR-2.				blood coagulation	cytosol	GTP binding			ovary(3)	3						GGATGTTCAGCGTTCAAGAAA	0.368													T	117796673	C	T	117796673	3	4	121	1	0	0	0	0	1	0	0	0	4686	768	27	1	5172	1	DOCK11	23	117796673	Missense_Mutation	SNP	C	TCGA-BR-A4J1-01A-11D-A25D-08	763704	117796673	37473887	79	75157											
CD1D	912	broad.mit.edu	37	chr1	158151309	158151309	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgccaatagcagctggacGcgcaccgacggcttggcgtg	14	13	0	0			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr1:158151309G>A	uc001frr.2	+	3	625	c.126G>A	c.(124-126)ACG>ACA	p.T42T	CD1D_uc009wsr.1_Silent_p.T42T|CD1D_uc009wss.2_Silent_p.T42T|CD1D_uc009wst.1_5'UTR	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	42	Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			ovary(1)	1	all_hematologic(112;0.0378)					GCAGCTGGACGCGCACCGACG	0.627													A	158151309	G	A	158151309	2	1	122	1	0	0	0	0	0	0	0	1	2977	1074	38	1		1	CD1D	1	158151309	Silent	SNP	G	TCGA-BR-A4J2-01A-21D-A25D-08		158151309	91099312	1	75158											
OR6N2	81442	broad.mit.edu	37	chr1	158746540	158746540	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttgatagctttaatgatttCcttgttacgaagactgtaga	8	6	0	4			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr1:158746540C>A	uc010pir.1	-	1	886	c.886G>T	c.(886-888)GAA>TAA	p.E296*		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)					TTAATGATTTCCTTGTTACGA	0.408													A	158746540	C	A	158746540	4	1	122	1	0	0	0	0	0	1	0	0	11207	864	30	5	70	5	OR6N2	1	158746540	Nonsense_Mutation	SNP	C	TCGA-BR-A4J2-01A-21D-A25D-08	595231	158746540	90504081	2	75159											
TPO	7173	broad.mit.edu	37	chr2	1544475	1544475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacctcaccgcagcgggccGcagctcaggactcggagcag	15	15	2	0			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr2:1544475G>A	uc002qww.2	+	16	2819	c.2728G>A	c.(2728-2730)GCA>ACA	p.A910T	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.A853T|TPO_uc002qwr.2_Missense_Mutation_p.A910T|TPO_uc002qwx.2_Missense_Mutation_p.A853T|TPO_uc010yio.1_Missense_Mutation_p.A737T|TPO_uc010yip.1_Missense_Mutation_p.A866T|TPO_uc002qwy.1_Missense_Mutation_p.A206T|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	910	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCAGCGGGCCGCAGCTCAGGA	0.642													A	1544475	G	A	1544475	3	1	122	1	0	0	0	0	1	0	0	0	16407	1087	38	1	2786	1	TPO	2	1544475	Missense_Mutation	SNP	G	TCGA-BR-A4J2-01A-21D-A25D-08		1544475	241654898	3	75160											
CSRNP3	80034	broad.mit.edu	37	chr2	166535704	166535704	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtggaaggtttgggcacccAtgccgaagttgtccctcttc	12	12	1	0			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr2:166535704A>G	uc002udf.2	+	7	1575	c.1199A>G	c.(1198-1200)CAT>CGT	p.H400R	CSRNP3_uc002udg.2_Missense_Mutation_p.H400R	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	400					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						TTGGGCACCCATGCCGAAGTT	0.378													G	166535704	A	G	166535704	3	3	122	1	0	0	0	0	1	0	0	0	3965	217	8	3	1213	3	CSRNP3	2	166535704	Missense_Mutation	SNP	A	TCGA-BR-A4J2-01A-21D-A25D-08	164991229	166535704	76663669	4	75161											
TTN	7273	broad.mit.edu	37	chr2	179586749	179586749	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttgttatcttttgaccaAgtgattcgcatcggttgagc	9	9	1	3			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr2:179586749A>C	uc010zfg.1	-	75	19133	c.18909T>G	c.(18907-18909)ACT>ACG	p.T6303T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T2964T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7230							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTGACCAAGTGATTCGCA	0.418													C	179586749	A	C	179586749	2	2	122	1	0	0	0	0	0	0	0	1	16732	59	3	5		5	TTN	2	179586749	Silent	SNP	A	TCGA-BR-A4J2-01A-21D-A25D-08	13051045	179586749	63612624	5	75162											
DNAH7	56171	broad.mit.edu	37	chr2	196825572	196825572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacagcagtttcataaagaCgaagataagggttcaagcca	10	8	2	2			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr2:196825572C>T	uc002utj.3	-	18	2404	c.2303G>A	c.(2302-2304)CGT>CAT	p.R768H		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	768	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TTCATAAAGACGAAGATAAGG	0.403													T	196825572	C	T	196825572	3	4	122	1	0	0	0	0	1	0	0	0	4606	536	19	1	9963	1	DNAH7	2	196825572	Missense_Mutation	SNP	C	TCGA-BR-A4J2-01A-21D-A25D-08	17238823	196825572	46373801	6	75163											
MRAS	22808	broad.mit.edu	37	chr3	138116252	138116252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcctcatcgtctactccGtcactgacaaggccagcttt	7	15	3	1			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr3:138116252G>A	uc003esh.3	+	3	841	c.280G>A	c.(280-282)GTC>ATC	p.V94I	MRAS_uc011bmi.1_Missense_Mutation_p.V18I|MRAS_uc003esi.3_Missense_Mutation_p.V94I|MRAS_uc011bmj.1_Missense_Mutation_p.V18I	NM_012219	NP_036351	O14807	RASM_HUMAN	muscle RAS oncogene homolog precursor	94					actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						CGTCTACTCCGTCACTGACAA	0.577													A	138116252	G	A	138116252	3	1	122	1	0	0	0	0	1	0	0	0	9755	1145	40	1	286	1	MRAS	3	138116252	Missense_Mutation	SNP	G	TCGA-BR-A4J2-01A-21D-A25D-08		138116252	59906178	7	75164											
KLHL24	54800	broad.mit.edu	37	chr3	183368817	183368817	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgaacttgttattggtAaagaggagatggtttttgaa	13	1	0	5			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr3:183368817A>C	uc003flv.2	+	3	968	c.673A>C	c.(673-675)AAA>CAA	p.K225Q	KLHL24_uc003flw.2_Missense_Mutation_p.K225Q|KLHL24_uc003flx.2_Missense_Mutation_p.K225Q	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	225	BACK.					axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TGTTATTGGTAAAGAGGAGAT	0.423													C	183368817	A	C	183368817	3	2	122	1	0	0	0	0	1	0	0	0	8379	363	13	5	675	5	KLHL24	3	183368817	Missense_Mutation	SNP	A	TCGA-BR-A4J2-01A-21D-A25D-08	45252565	183368817	14653613	8	75165											
TP63	8626	broad.mit.edu	37	chr3	189582154	189582154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaaaagctgagcacgtcaCggaggtggtgaagcggtgcc	15	9	1	2			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr3:189582154C>T	uc003fry.2	+	5	802	c.713C>T	c.(712-714)ACG>ATG	p.T238M	TP63_uc003frx.2_Missense_Mutation_p.T238M|TP63_uc003frz.2_Missense_Mutation_p.T238M|TP63_uc010hzc.1_Missense_Mutation_p.T238M|TP63_uc003fsa.2_Missense_Mutation_p.T144M|TP63_uc003fsb.2_Missense_Mutation_p.T144M|TP63_uc003fsc.2_Missense_Mutation_p.T144M|TP63_uc003fsd.2_Missense_Mutation_p.T144M|TP63_uc010hzd.1_Missense_Mutation_p.T59M|TP63_uc003fse.1_Missense_Mutation_p.T119M	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	238					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GAGCACGTCACGGAGGTGGTG	0.517									Hay-Wells_syndrome	HNSCC(45;0.13)			T	189582154	C	T	189582154	3	4	122	1	0	0	0	0	1	0	0	0	16389	536	19	1	777	1	TP63	3	189582154	Missense_Mutation	SNP	C	TCGA-BR-A4J2-01A-21D-A25D-08	6213337	189582154	8440276	9	75166											
WDFY3	23001	broad.mit.edu	37	chr4	85715865	85715865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctagagtaacttaagccGgagggaggagggaagaatct	15	6	1	2			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr4:85715865G>A	uc003hpd.2	-	21	3702	c.3294C>T	c.(3292-3294)TCC>TCT	p.S1098S		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1098						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AACTTAAGCCGGAGGGAGGAG	0.348													A	85715865	G	A	85715865	2	1	122	1	0	0	0	0	0	0	0	1	17267	1103	39	1		1	WDFY3	4	85715865	Silent	SNP	G	TCGA-BR-A4J2-01A-21D-A25D-08		85715865	105438411	10	75167											
MARCH1	55016	broad.mit.edu	37	chr4	164466833	164466833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacaggtgatcgcgattacGtggaatgtgacagagcagaa	13	7	0	4			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr4:164466833G>A	uc003iqs.1	-	7	1463	c.486C>T	c.(484-486)CAC>CAT	p.H162H	MARCH1_uc003iqr.1_Silent_p.H145H	NM_017923	NP_060393	Q8TCQ1	MARH1_HUMAN	membrane-associated RING-CH protein I	162	Helical; (Potential).				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCGCGATTACGTGGAATGTGA	0.428													A	164466833	G	A	164466833	2	1	122	1	0	0	0	0	0	0	0	1	9298	1136	40	1		1	MARCH1	4	164466833	Silent	SNP	G	TCGA-BR-A4J2-01A-21D-A25D-08	78750968	164466833	26687443	11	75168											
PCSK1	5122	broad.mit.edu	37	chr5	95768636	95768636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgggcccccggggatctcCgctgcccattcattgacaaa	10	16	2	1			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr5:95768636C>T	uc003kls.1	-	1	317	c.111G>A	c.(109-111)GCG>GCA	p.A37A		NM_000439	NP_000430	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	37					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			ovary(2)	2		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGGGGATCTCCGCTGCCCATT	0.547													T	95768636	C	T	95768636	2	4	122	1	0	0	0	0	0	0	0	1	11600	639	23	1		1	PCSK1	5	95768636	Silent	SNP	C	TCGA-BR-A4J2-01A-21D-A25D-08		95768636	85146624	12	75169											
PCDHA11	56138	broad.mit.edu	37	chr5	140250589	140250589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgagataagcacaacgcGtgccctggacgaggcagact	15	11	0	2			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr5:140250589G>A	uc003lia.2	+	1	2759	c.1901G>A	c.(1900-1902)CGT>CAT	p.R634H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.R634H	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	634	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACAACGCGTGCCCTGGAC	0.667													A	140250589	G	A	140250589	3	1	122	1	0	0	0	0	1	0	0	0	11521	1145	40	1	1903	1	PCDHA11	5	140250589	Missense_Mutation	SNP	G	TCGA-BR-A4J2-01A-21D-A25D-08	44481953	140250589	40664671	13	75170											
PCDHB6	56130	broad.mit.edu	37	chr5	140530549	140530549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttggacatcaatgacaaCgtccccgagtttgctcagga	10	10	2	1			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr5:140530549C>T	uc003lir.2	+	1	711	c.711C>T	c.(709-711)AAC>AAT	p.N237N	PCDHB6_uc011dah.1_Silent_p.N101N	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	237	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATGACAACGTCCCCGAGT	0.562													T	140530549	C	T	140530549	2	4	122	1	0	0	0	0	0	0	0	1	11546	535	19	1		1	PCDHB6	5	140530549	Silent	SNP	C	TCGA-BR-A4J2-01A-21D-A25D-08	279960	140530549	40384711	14	75171											
PCDHB11	56125	broad.mit.edu	37	chr5	140581312	140581312	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcctccgcgctcggccacCgccacgctgcaagtgctcct	11	19	0	0			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr5:140581312C>T	uc003liy.2	+	1	1965	c.1965C>T	c.(1963-1965)ACC>ACT	p.T655T	PCDHB11_uc011daj.1_Silent_p.T290T	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	655	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCGGCCACCGCCACGCTGC	0.721													T	140581312	C	T	140581312	2	4	122	1	0	0	0	0	0	0	0	1	11536	639	23	1		1	PCDHB11	5	140581312	Silent	SNP	C	TCGA-BR-A4J2-01A-21D-A25D-08	50763	140581312	40333948	15	75172											
FAM71B	153745	broad.mit.edu	37	chr5	156592829	156592829	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcagtctcgtgagctcTagagtcttgacgggcctgcg	15	10	3	3			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr5:156592829T>C	uc003lwn.2	-	1	451	c.351A>G	c.(349-351)CTA>CTG	p.L117L		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	117						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCGTGAGCTCTAGAGTCTTGA	0.527													C	156592829	T	C	156592829	2	2	122	1	0	0	0	0	0	0	0	1	5608	1509	53	3		3	FAM71B	5	156592829	Silent	SNP	T	TCGA-BR-A4J2-01A-21D-A25D-08	16011517	156592829	24322431	16	75173											
DLL1	28514	broad.mit.edu	37	chr6	170592163	170592163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgaagttgaacagcccgaGtccggcctttttctttcaga	9	10	2	3			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr6:170592163G>A	uc003qxm.2	-	10	2549	c.2079C>T	c.(2077-2079)GAC>GAT	p.D693D		NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	693	Cytoplasmic (Potential).				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		AACAGCCCGAGTCCGGCCTTT	0.463													A	170592163	G	A	170592163	2	1	122	1	0	0	0	0	0	0	0	1	4566	1020	36	4		4	DLL1	6	170592163	Silent	SNP	G	TCGA-BR-A4J2-01A-21D-A25D-08		170592163	522904	17	75174											
HOXA13	3209	broad.mit.edu	37	chr7	27239615	27239615	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcttgttgagctcgtcggCcaccaggccgccgccgttgt	13	14	1	1			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr7:27239615C>A	uc003szb.1	-	1	111	c.82G>T	c.(82-84)GCC>TCC	p.A28S	uc003szc.1_5'Flank	NM_000522	NP_000513	P31271	HXA13_HUMAN	homeobox A13	28					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)	1						AGCTCGTCGGCCACCAGGCCG	0.408			T	NUP98	AML								A	27239615	C	A	27239615	3	1	122	1	0	0	0	0	1	0	0	0	7291	739	26	5	1092	5	HOXA13	7	27239615	Missense_Mutation	SNP	C	TCGA-BR-A4J2-01A-21D-A25D-08		27239615	131899048	18	75175											
TBL2	26608	broad.mit.edu	37	chr7	72984991	72984991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagtgttgtgaaacagcCgcaccgcccggtccccacag	12	15	0	1			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr7:72984991C>T	uc003tyh.2	-	7	1324	c.1190G>A	c.(1189-1191)CGG>CAG	p.R397Q	TBL2_uc011kex.1_Missense_Mutation_p.R361Q|TBL2_uc010lbg.2_Missense_Mutation_p.R302Q|TBL2_uc003tyi.2_Missense_Mutation_p.R232Q|TBL2_uc011key.1_Missense_Mutation_p.R268Q|TBL2_uc010lbh.2_Missense_Mutation_p.R302Q	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	397	WD 7.										0		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTGAAACAGCCGCACCGCCCG	0.632													T	72984991	C	T	72984991	3	4	122	1	0	0	0	0	1	0	0	0	15639	652	23	1	157	1	TBL2	7	72984991	Missense_Mutation	SNP	C	TCGA-BR-A4J2-01A-21D-A25D-08	45745376	72984991	86153672	19	75176											
TFPI2	7980	broad.mit.edu	37	chr7	93519622	93519622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcaggagacagatctccGcgttatttcctgaagaaggg	15	8	1	4			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr7:93519622G>A	uc003umy.1	-	2	173	c.98C>T	c.(97-99)GCG>GTG	p.A33V	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Missense_Mutation_p.A33V|TFPI2_uc003una.1_Intron|TFPI2_uc003unb.1_Missense_Mutation_p.A33V|TFPI2_uc010lfg.1_Intron	NM_006528	NP_006519	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2 precursor	33					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			pancreas(1)	1	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			ACAGATCTCCGCGTTATTTCC	0.572													A	93519622	G	A	93519622	3	1	122	1	0	0	0	0	1	0	0	0	15806	1087	38	1	625	1	TFPI2	7	93519622	Missense_Mutation	SNP	G	TCGA-BR-A4J2-01A-21D-A25D-08	20534631	93519622	65619041	20	75177											
ZNF775	285971	broad.mit.edu	37	chr7	150093795	150093796	+	Missense_Mutation	DNP	CC	CC	AT													ctgggagtccaaggtgggccCctcccactgagcaggatgcg							TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr7:150093795_150093796CC>AT	uc003whf.1	+	3	351_352	c.226_227CC>AT	c.(226-228)CCT>ATT	p.P76I		NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	zinc finger protein 775	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGGTGGGCCCCTCCCACTGAG	0.703													AT	150093796	CC	AT	150093795	3	1	122	1	0	0	0	0	1	0	0	0	18145	623	22	5	232	5	ZNF775	7	150093795	Missense_Mutation	DNP	CC	TCGA-BR-A4J2-01A-21D-A25D-08	56574173	150093795	9044868	21	75178											
ZMAT4	79698	broad.mit.edu	37	chr8	40554842	40554842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgccttgataatgggaatCggccaccaccgctgaagtga	11	10	0	3			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr8:40554842C>T	uc003xnr.2	-	4	417	c.271G>A	c.(271-273)GAT>AAT	p.D91N	ZMAT4_uc003xns.2_Missense_Mutation_p.D91N	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	zinc finger, matrin type 4 isoform a	91	Matrin-type 2.					nucleus	DNA binding|zinc ion binding			pancreas(1)|central_nervous_system(1)|skin(1)	3	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TAATGGGAATCGGCCACCACC	0.502													T	40554842	C	T	40554842	3	4	122	1	0	0	0	0	1	0	0	0	17691	884	31	1	434	1	ZMAT4	8	40554842	Missense_Mutation	SNP	C	TCGA-BR-A4J2-01A-21D-A25D-08		40554842	105809180	22	75179											
TOX	9760	broad.mit.edu	37	chr8	59728015	59728015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagatgctggtgaagaggcGggctgatctggaggggagga	21	4	1	4			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr8:59728015G>A	uc003xtw.1	-	7	1495	c.1274C>T	c.(1273-1275)CCG>CTG	p.P425L		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	425						nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GTGAAGAGGCGGGCTGATCTG	0.587													A	59728015	G	A	59728015	3	1	122	1	0	0	0	0	1	0	0	0	16374	1116	39	1	318	1	TOX	8	59728015	Missense_Mutation	SNP	G	TCGA-BR-A4J2-01A-21D-A25D-08	19173173	59728015	86636007	23	75180											
PI15	51050	broad.mit.edu	37	chr8	75757681	75757681	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccaaaacatgaatgtttGgggatctgtgtggcgacgtg	14	6	1	1			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr8:75757681G>A	uc003yal.2	+	5	769	c.590G>A	c.(589-591)TGG>TAG	p.W197*	uc003yak.1_Intron|PI15_uc003yam.2_Nonsense_Mutation_p.W197*	NM_015886	NP_056970	O43692	PI15_HUMAN	protease inhibitor 15 preproprotein	197						extracellular region	peptidase inhibitor activity			central_nervous_system(2)|ovary(1)	3	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			ATGAATGTTTGGGGATCTGTG	0.413													A	75757681	G	A	75757681	4	1	122	1	0	0	0	0	0	1	0	0	11868	1357	47	4	604	4	PI15	8	75757681	Nonsense_Mutation	SNP	G	TCGA-BR-A4J2-01A-21D-A25D-08	16029666	75757681	70606341	24	75181											
CIZ1	25792	broad.mit.edu	37	chr9	130940663	130940663	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccacccctggcatctctctCgctctgttttcacattctcc	4	19	5	0			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr9:130940663C>T	uc004btt.2	-	9	1768	c.1605G>A	c.(1603-1605)GCG>GCA	p.A535A	CIZ1_uc004btr.2_Silent_p.A507A|CIZ1_uc004bts.2_Silent_p.A506A|CIZ1_uc011maq.1_Silent_p.A474A|CIZ1_uc004btu.2_Silent_p.A455A|CIZ1_uc011mar.1_Silent_p.A434A|CIZ1_uc011mas.1_Silent_p.A565A|CIZ1_uc004btw.2_Silent_p.A479A|CIZ1_uc004btv.2_Silent_p.A535A	NM_001131016	NP_001124488	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1 isoform	535						nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4						GCATCTCTCTCGCTCTGTTTT	0.587													T	130940663	C	T	130940663	2	4	122	1	0	0	0	0	0	0	0	1	3441	871	31	1		1	CIZ1	9	130940663	Silent	SNP	C	TCGA-BR-A4J2-01A-21D-A25D-08		130940663	10272768	25	75182											
C9orf171	389799	broad.mit.edu	37	chr9	135374767	135374767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgccctcagccatcggaCgctggaacgtgttcaagcag	11	15	2	0			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr9:135374767C>T	uc004cbn.2	+	4	460	c.412C>T	c.(412-414)CGC>TGC	p.R138C	C9orf171_uc004cbo.2_Missense_Mutation_p.R102C	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	hypothetical protein LOC389799	138										ovary(4)|large_intestine(1)	5						AGCCATCGGACGCTGGAACGT	0.642													T	135374767	C	T	135374767	3	4	122	1	0	0	0	0	1	0	0	0	2470	536	19	1	426	1	C9orf171	9	135374767	Missense_Mutation	SNP	C	TCGA-BR-A4J2-01A-21D-A25D-08	4434104	135374767	5838664	26	75183											
NELF	26012	broad.mit.edu	37	chr9	140350865	140350865	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggcacaagactcacgcTtgcatagttgtggttgctgt	13	9	1	1			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr9:140350865T>C	uc004cna.2	-	4	934	c.702A>G	c.(700-702)CAA>CAG	p.Q234Q	C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_5'Flank|NELF_uc010nci.2_Silent_p.Q2Q|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Silent_p.Q234Q|NELF_uc004cmz.2_Silent_p.Q234Q|NELF_uc004cnc.2_Silent_p.Q234Q|NELF_uc004cnb.2_Silent_p.Q234Q	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	nasal embryonic LHRH factor isoform a	234						nucleus|plasma membrane					0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)		AGACTCACGCTTGCATAGTTG	0.532													C	140350865	T	C	140350865	2	2	122	1	0	0	0	0	0	0	0	1	10332	1606	56	3		3	NELF	9	140350865	Silent	SNP	T	TCGA-BR-A4J2-01A-21D-A25D-08	4976098	140350865	862566	27	75184											
PITRM1	10531	broad.mit.edu	37	chr10	3185599	3185599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggcatgatctgggtccGtgtaggggacagttcggatg	16	8	1	1	rs35046873	by1000genomes	TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr10:3185599G>A	uc010qah.1	-	20	2365	c.2333C>T	c.(2332-2334)ACG>ATG	p.T778M	PITRM1_uc001igr.1_Missense_Mutation_p.T876M|PITRM1_uc001igs.1_Translation_Start_Site|PITRM1_uc001igt.1_Missense_Mutation_p.T876M|PITRM1_uc009xhv.1_Missense_Mutation_p.T442M|PITRM1_uc001igu.1_Missense_Mutation_p.T802M|PITRM1_uc010qai.1_Missense_Mutation_p.T847M|uc001igv.1_Intron			E7ES23	E7ES23_HUMAN	SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;	778					proteolysis		metalloendopeptidase activity|zinc ion binding			pancreas(1)	1						ATCTGGGTCCGTGTAGGGGAC	0.572													A	3185599	G	A	3185599	3	1	122	1	0	0	0	0	1	0	0	0	11953	1145	40	1	506	1	PITRM1	10	3185599	Missense_Mutation	SNP	G	TCGA-BR-A4J2-01A-21D-A25D-08		3185599	132349148	28	75185											
ANO9	338440	broad.mit.edu	37	chr11	421037	421037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatcatgcagccgctggcGtggcactgcggggccagaca	14	14	1	1			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr11:421037G>A	uc001lpi.2	-	17	1483	c.1398C>T	c.(1396-1398)CAC>CAT	p.H466H	ANO9_uc001lph.2_Silent_p.H159H|ANO9_uc010qvv.1_Silent_p.H322H	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	466	Extracellular (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						AGCCGCTGGCGTGGCACTGCG	0.647													A	421037	G	A	421037	2	1	122	1	0	0	0	0	0	0	0	1	704	1136	40	1		1	ANO9	11	421037	Silent	SNP	G	TCGA-BR-A4J2-01A-21D-A25D-08		421037	134585479	29	75186											
NLRP14	338323	broad.mit.edu	37	chr11	7064768	7064768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgggaagctgggaacccttCctgccagccttttgaagatt	11	10	0	2			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr11:7064768C>T	uc001mfb.1	+	4	1834	c.1511C>T	c.(1510-1512)TCC>TTC	p.S504F		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	504					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GGGAACCCTTCCTGCCAGCCT	0.408													T	7064768	C	T	7064768	3	4	122	1	0	0	0	0	1	0	0	0	10476	855	30	4	1521	4	NLRP14	11	7064768	Missense_Mutation	SNP	C	TCGA-BR-A4J2-01A-21D-A25D-08	6643731	7064768	127941748	30	75187											
CD6	923	broad.mit.edu	37	chr11	60783242	60783242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaggactcagactctggctCggactcagactatgagcact	11	11	3	4			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr11:60783242C>T	uc001nqq.2	+	9	1668	c.1445C>T	c.(1444-1446)TCG>TTG	p.S482L	CD6_uc001nqp.2_Missense_Mutation_p.S482L|CD6_uc001nqr.2_Missense_Mutation_p.S450L|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Intron	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor	482	Cytoplasmic (Potential).				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						GACTCTGGCTCGGACTCAGAC	0.632													T	60783242	C	T	60783242	3	4	122	1	0	0	0	0	1	0	0	0	3028	893	31	1	1479	1	CD6	11	60783242	Missense_Mutation	SNP	C	TCGA-BR-A4J2-01A-21D-A25D-08	53718474	60783242	74223274	31	75188											
KCNK4	50801	broad.mit.edu	37	chr11	64064717	64064717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctgggctcctccctgcGccatggcatcggtcacattg	12	16	1	0			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr11:64064717G>A	uc001nzj.1	+	4	763	c.440G>A	c.(439-441)CGC>CAC	p.R147H	KCNK4_uc009ypl.1_Missense_Mutation_p.A120T|KCNK4_uc001nzk.1_Missense_Mutation_p.A81T|KCNK4_uc010rnk.1_5'UTR|KCNK4_uc001nzl.1_Missense_Mutation_p.A81T|KCNK4_uc001nzm.3_RNA|KCNK4_uc001nzn.1_Missense_Mutation_p.R147H|KCNK4_uc001nzo.2_Missense_Mutation_p.R147H|KCNK4_uc001nzp.1_5'UTR	NM_033310	NP_201567	Q9NYG8	KCNK4_HUMAN	TRAAK	147	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity				0						TCCTCCCTGCGCCATGGCATC	0.637													A	64064717	G	A	64064717	3	1	122	1	0	0	0	0	1	0	0	0	8068	1087	38	1	450	1	KCNK4	11	64064717	Missense_Mutation	SNP	G	TCGA-BR-A4J2-01A-21D-A25D-08	3281475	64064717	70941799	32	75189											
ATM	472	broad.mit.edu	37	chr11	108128225	108128225	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagtctctaatgcaatgtgcAggagaaagtatcactctgtt	9	7	3	1			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr11:108128225A>T	uc001pkb.1	+	15	2653	c.2268A>T	c.(2266-2268)GCA>GCT	p.A756A	ATM_uc009yxr.1_Silent_p.A756A	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	756					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGCAATGTGCAGGAGAAAGTA	0.328			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			T	108128225	A	T	108128225	2	4	122	1	0	0	0	0	0	0	0	1	1109	175	7	5		5	ATM	11	108128225	Silent	SNP	A	TCGA-BR-A4J2-01A-21D-A25D-08	44063508	108128225	26878291	33	75190											
TBCEL	219899	broad.mit.edu	37	chr11	120924372	120924372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtccttctctggggttcGcaaacttgtcctcaacaaca	9	12	2	0			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr11:120924372G>A	uc009zay.2	+	4	464	c.386G>A	c.(385-387)CGC>CAC	p.R129H	TBCEL_uc001pxo.2_Missense_Mutation_p.R129H|TBCEL_uc001pxp.2_5'UTR|TBCEL_uc001pxq.2_Intron	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	129	LRR 3.					cytoplasm|cytoskeleton				skin(1)	1		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TCTGGGGTTCGCAAACTTGTC	0.483													A	120924372	G	A	120924372	3	1	122	1	0	0	0	0	1	0	0	0	15632	1087	38	1	396	1	TBCEL	11	120924372	Missense_Mutation	SNP	G	TCGA-BR-A4J2-01A-21D-A25D-08	12796147	120924372	14082144	34	75191											
ANKRD13A	88455	broad.mit.edu	37	chr12	110474086	110474086	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaactttcaggaccagcttcGaatggagggatcagccagac	12	10	2	1			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr12:110474086G>A	uc001tpx.2	+	14	1789	c.1530G>A	c.(1528-1530)TCG>TCA	p.S510S	ANKRD13A_uc010sxw.1_Silent_p.S509S|ANKRD13A_uc001tpy.2_Silent_p.S110S|ANKRD13A_uc001tpz.2_Silent_p.S148S|ANKRD13A_uc001tqa.2_Missense_Mutation_p.E95K	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13	510											0						GACCAGCTTCGAATGGAGGGA	0.478													A	110474086	G	A	110474086	2	1	122	1	0	0	0	0	0	0	0	1	641	1045	37	1		1	ANKRD13A	12	110474086	Silent	SNP	G	TCGA-BR-A4J2-01A-21D-A25D-08		110474086	23377809	35	75192											
RB1	5925	broad.mit.edu	37	chr13	48951169	48951169	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtcgaaattggatcacAggtaacttgaattcattgta	9	5	2	1			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr13:48951169A>T	uc001vcb.2	+	13	1497	c.1331A>T	c.(1330-1332)CAG>CTG	p.Q444L	RB1_uc010act.1_Missense_Mutation_p.Q145L	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	444	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(8)|p.Q444H(1)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATTGGATCACAGGTAACTTGA	0.333		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	48951169	A	T	48951169	3	4	122	1	0	0	0	0	1	0	0	0	13098	202	7	5	1381	5	RB1	13	48951169	Missense_Mutation	SNP	A	TCGA-BR-A4J2-01A-21D-A25D-08		48951169	66218709	36	75193											
ARID4A	5926	broad.mit.edu	37	chr14	58795012	58795012	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaaggatcagtgtttagttCgatcatttattgattctaaa	7	4	3	1			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr14:58795012C>T	uc001xdp.2	+	9	894	c.640C>T	c.(640-642)CGA>TGA	p.R214*	ARID4A_uc001xdo.2_Nonsense_Mutation_p.R214*|ARID4A_uc001xdq.2_Nonsense_Mutation_p.R214*	NM_002892	NP_002883	P29374	ARI4A_HUMAN	retinoblastoma-binding protein 1 isoform I	214					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|lung(1)	6						GTGTTTAGTTCGATCATTTAT	0.338													T	58795012	C	T	58795012	4	4	122	1	0	0	0	0	0	1	0	0	919	876	31	1	670	1	ARID4A	14	58795012	Nonsense_Mutation	SNP	C	TCGA-BR-A4J2-01A-21D-A25D-08		58795012	48554528	37	75194											
TTLL13	440307	broad.mit.edu	37	chr15	90799471	90799471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgtggcatcttcattacccGaaatccccgggagatcaagc	9	13	3	1			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr15:90799471G>A	uc002bpd.1	+	6	935	c.647G>A	c.(646-648)CGA>CAA	p.R216Q	TTLL13_uc002bpe.1_Intron	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	216	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TTCATTACCCGAAATCCCCGG	0.547													A	90799471	G	A	90799471	3	1	122	1	0	0	0	0	1	0	0	0	16723	1058	37	1	665	1	TTLL13	15	90799471	Missense_Mutation	SNP	G	TCGA-BR-A4J2-01A-21D-A25D-08		90799471	11731921	38	75195											
GRIN2A	2903	broad.mit.edu	37	chr16	9934865	9934865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtcaccagatagaggtcGtaagtaaacttcacagttct	9	8	3	2			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr16:9934865G>A	uc002czo.3	-	6	1973	c.1425C>T	c.(1423-1425)TAC>TAT	p.Y475Y	GRIN2A_uc010uym.1_Silent_p.Y475Y|GRIN2A_uc010uyn.1_Silent_p.Y318Y|GRIN2A_uc002czr.3_Silent_p.Y475Y	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	475	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GATAGAGGTCGTAAGTAAACT	0.423													A	9934865	G	A	9934865	2	1	122	1	0	0	0	0	0	0	0	1	6779	1140	40	1		1	GRIN2A	16	9934865	Silent	SNP	G	TCGA-BR-A4J2-01A-21D-A25D-08		9934865	80419888	39	75196											
GPT2	84706	broad.mit.edu	37	chr16	46956237	46956237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaagctgctgtcggtgcGcctgtgccccccagtgtctg	15	13	1	1			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr16:46956237G>A	uc002eel.2	+	9	1215	c.1121G>A	c.(1120-1122)CGC>CAC	p.R374H	GPT2_uc002eem.2_Missense_Mutation_p.R274H|GPT2_uc002een.2_5'Flank	NM_133443	NP_597700	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase 2 isoform 1	374					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)|skin(1)	2		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTGTCGGTGCGCCTGTGCCCC	0.607													A	46956237	G	A	46956237	3	1	122	1	0	0	0	0	1	0	0	0	6738	1087	38	1	1151	1	GPT2	16	46956237	Missense_Mutation	SNP	G	TCGA-BR-A4J2-01A-21D-A25D-08	37021372	46956237	43398516	40	75197											
DHX38	9785	broad.mit.edu	37	chr16	72130190	72130190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaaggctcctgctccccGcccttcattactcggactgg	8	17	2	0			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr16:72130190G>A	uc002fcb.2	+	2	489	c.134G>A	c.(133-135)CGC>CAC	p.R45H	TXNL4B_uc010cgl.2_5'Flank|TXNL4B_uc002fca.2_5'Flank|TXNL4B_uc010vmn.1_5'Flank|TXNL4B_uc010vmo.1_5'Flank|DHX38_uc010vmp.1_Missense_Mutation_p.R45H|DHX38_uc010cgn.1_5'Flank	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	45					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)				CCTGCTCCCCGCCCTTCATTA	0.552													A	72130190	G	A	72130190	3	1	122	1	0	0	0	0	1	0	0	0	4511	1087	38	1	136	1	DHX38	16	72130190	Missense_Mutation	SNP	G	TCGA-BR-A4J2-01A-21D-A25D-08	25173953	72130190	18224563	41	75198											
SLC6A4	6532	broad.mit.edu	37	chr17	28539849	28539849	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaaatcccgaaacgaagctCgtcatgcagttcaccacgct	7	14	2	0			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr17:28539849C>T	uc002hey.3	-	9	1657	c.1113G>A	c.(1111-1113)ACG>ACA	p.T371T	SLC6A4_uc010csg.2_5'Flank	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	371	Helical; Name=7; (Potential).				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AAACGAAGCTCGTCATGCAGT	0.542													T	28539849	C	T	28539849	2	4	122	1	0	0	0	0	0	0	0	1	14686	871	31	1		1	SLC6A4	17	28539849	Silent	SNP	C	TCGA-BR-A4J2-01A-21D-A25D-08		28539849	52655361	42	75199											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	122	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-BR-A4J2-01A-21D-A25D-08	27846535	56386384	24808826	43	75200											
DCC	1630	broad.mit.edu	37	chr18	50741940	50741940	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtgccccgcctcagaaCgtctccctggaagtggtcaa	10	15	3	1			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr18:50741940C>T	uc002lfe.1	+	12	2471	c.1884C>T	c.(1882-1884)AAC>AAT	p.N628N	DCC_uc010xdr.1_Silent_p.N476N|DCC_uc010dpf.1_Silent_p.N283N	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	628	Extracellular (Potential).|Fibronectin type-III 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGCCTCAGAACGTCTCCCTGG	0.398													T	50741940	C	T	50741940	2	4	122	1	0	0	0	0	0	0	0	1	4282	535	19	1		1	DCC	18	50741940	Silent	SNP	C	TCGA-BR-A4J2-01A-21D-A25D-08		50741940	27335308	44	75201											
SAFB	6294	broad.mit.edu	37	chr19	5667069	5667069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtccagcattacccagaaCgccatggaggaccagagcgc	11	13	0	2			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr19:5667069C>T	uc002mcf.2	+	18	2400	c.2347C>T	c.(2347-2349)CGC>TGC	p.R783C	SAFB_uc002mcg.2_Missense_Mutation_p.R783C|SAFB_uc002mce.3_Missense_Mutation_p.R782C|SAFB_uc010xir.1_Missense_Mutation_p.R782C|SAFB_uc010xis.1_Missense_Mutation_p.R714C|SAFB_uc010xit.1_Missense_Mutation_p.R625C|SAFB_uc010xiu.1_Missense_Mutation_p.R582C	NM_002967	NP_002958	Q15424	SAFB1_HUMAN	scaffold attachment factor B	783	Interaction with SAFB2.|Interaction with POLR2A.|Arg-rich.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			ovary(1)|liver(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TTACCCAGAACGCCATGGAGG	0.612													T	5667069	C	T	5667069	3	4	122	1	0	0	0	0	1	0	0	0	13806	536	19	1	2417	1	SAFB	19	5667069	Missense_Mutation	SNP	C	TCGA-BR-A4J2-01A-21D-A25D-08		5667069	53461914	45	75202											
ACSS2	55902	broad.mit.edu	37	chr20	33508811	33508811	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagccttcatgggtcagttTgaggggattcccacatatcc	10	12	2	1			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr20:33508811T>G	uc002xbd.2	+	10	1267	c.1146T>G	c.(1144-1146)TTT>TTG	p.F382L	ACSS2_uc002xbc.2_Missense_Mutation_p.F287L|ACSS2_uc010zum.1_Intron|ACSS2_uc010gey.2_Missense_Mutation_p.F395L|ACSS2_uc002xbe.2_Missense_Mutation_p.F90L|ACSS2_uc002xbf.2_Intron	NM_018677	NP_061147	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	382					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding				0					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGGGTCAGTTTGAGGGGATTC	0.507													G	33508811	T	G	33508811	3	3	122	1	0	0	0	0	1	0	0	0	189	1809	63	5	1227	5	ACSS2	20	33508811	Missense_Mutation	SNP	T	TCGA-BR-A4J2-01A-21D-A25D-08		33508811	29516709	46	75203											
SLC12A5	57468	broad.mit.edu	37	chr20	44664476	44664476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcagaacatctttggcGtcatcctcttcctgcggctc	9	15	3	1			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chr20:44664476G>A	uc010zxl.1	+	4	485	c.409G>A	c.(409-411)GTC>ATC	p.V137I	SLC12A5_uc002xra.2_Missense_Mutation_p.V114I|SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.V114I	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	137	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.V114I(1)		ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CATCTTTGGCGTCATCCTCTT	0.602													A	44664476	G	A	44664476	3	1	122	1	0	0	0	0	1	0	0	0	14386	1145	40	1	479	1	SLC12A5	20	44664476	Missense_Mutation	SNP	G	TCGA-BR-A4J2-01A-21D-A25D-08	11155665	44664476	18361044	47	75204											
MAP7D2	256714	broad.mit.edu	37	chrX	20081624	20081624	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttccagttttcgccatcGctcctccatttgcttttcgt	5	15	1	0			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chrX:20081624G>A	uc004czr.1	-	3	299	c.280C>T	c.(280-282)CGA>TGA	p.R94*	MAP7D2_uc011mji.1_Nonsense_Mutation_p.R50*|MAP7D2_uc010nfo.1_Nonsense_Mutation_p.R94*|MAP7D2_uc011mjj.1_Nonsense_Mutation_p.R94*|MAP7D2_uc004czs.1_Nonsense_Mutation_p.R50*	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	94	Potential.									ovary(2)|breast(1)	3						TTTCGCCATCGCTCCTCCATT	0.547													A	20081624	G	A	20081624	4	1	122	1	0	0	0	0	0	1	0	0	9268	1095	38	1	2097	1	MAP7D2	23	20081624	Nonsense_Mutation	SNP	G	TCGA-BR-A4J2-01A-21D-A25D-08		20081624	135188936	48	75205											
PLXNB3	5365	broad.mit.edu	37	chrX	153036951	153036951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctccctagtgatcctgtaCgactgcgccatgggccaccc	9	18	0	1			TCGA-BR-A4J2-01A-21D-A25D-08	TCGA-BR-A4J2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cd0e3b-9ffe-4231-a81d-1be43a73c495	2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58	g.chrX:153036951C>T	uc004fii.2	+	14	2532	c.2358C>T	c.(2356-2358)TAC>TAT	p.Y786Y	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.1_Silent_p.Y468Y|PLXNB3_uc010nuk.2_Silent_p.Y809Y|PLXNB3_uc011mzd.1_Silent_p.Y425Y|PLXNB3_uc004fij.1_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	786	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGATCCTGTACGACTGCGCCA	0.667													T	153036951	C	T	153036951	2	4	122	1	0	0	0	0	0	0	0	1	12125	547	19	1		1	PLXNB3	23	153036951	Silent	SNP	C	TCGA-BR-A4J2-01A-21D-A25D-08	132955327	153036951	2233609	49	75206											
SPEN	23013	broad.mit.edu	37	chr1	16264327	16264328	+	Frame_Shift_Ins	INS	-	-	G													agtaccccatcgtgtggcagINSggcctgctggccctcaagaa							TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr1:16264326_16264327A>AG	uc001axk.1	+	12	10733_10734	c.10529_10530A>AG	c.(10528-10530)cagfs	p.Q3510fs	SPEN_uc010obp.1_Frame_Shift_Ins_p.Q3469fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	3510	SPOC.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATCGTGTGGCAGGGCCTGCTGG	0.594													G	16264328	-	G	16264327	7	5	123	1	0	1	1	0	0	0	0	0	15037	991	35	0	10580	0	SPEN	1	16264327	Frame_Shift_Ins	INS	-	TCGA-BR-A4J4-01A-12D-A25D-08		16264327	232986294	1	75207											
CLCA1	1179	broad.mit.edu	37	chr1	86965518	86965518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcttttcattgctattcaGgctgttgataaggtcgatct	9	7	4	1			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr1:86965518G>A	uc001dlt.2	+	14	2664	c.2535G>A	c.(2533-2535)CAG>CAA	p.Q845Q		NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	845					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TTGCTATTCAGGCTGTTGATA	0.408													A	86965518	G	A	86965518	2	1	123	1	0	0	0	0	0	0	0	1	3457	991	35	4		4	CLCA1	1	86965518	Silent	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	70701191	86965518	162285103	2	75208											
EPS8L3	79574	broad.mit.edu	37	chr1	110294652	110294652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaccacagtcagttcccGtgggttcctagcttcaaact	9	13	2	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr1:110294652G>A	uc001dyr.1	-	15	1544	c.1399C>T	c.(1399-1401)CGG>TGG	p.R467W	EPS8L3_uc001dys.1_Missense_Mutation_p.R437W|EPS8L3_uc001dyq.1_Missense_Mutation_p.R468W|EPS8L3_uc009wfm.1_Missense_Mutation_p.R404W|EPS8L3_uc009wfn.1_Missense_Mutation_p.R412W	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	467	SH3.					cytoplasm	protein binding			ovary(2)|skin(1)	3		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GTCAGTTCCCGTGGGTTCCTA	0.602													A	110294652	G	A	110294652	3	1	123	1	0	0	0	0	1	0	0	0	5197	1144	40	1	402	1	EPS8L3	1	110294652	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	23329134	110294652	138955969	3	75209											
KCND3	3752	broad.mit.edu	37	chr1	112318860	112318860	+	Missense_Mutation	SNP	G	G	C													ctgggatgttttgcagtttgGtctcagtccgtcgtctgctt							TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr1:112318860G>C	uc001ebu.1	-	8	2287	c.1807C>G	c.(1807-1809)CCA>GCA	p.P603A	KCND3_uc001ebv.1_Missense_Mutation_p.P584A	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	603	Cytoplasmic (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TTGCAGTTTGGTCTCAGTCCG	0.567													C	112318860	G	C	112318860	3	2	123	1	0	0	0	0	1	0	0	0	8020	1261	44	5	164	5	KCND3	1	112318860	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	2024208	112318860	136931761	4	75210	338	2									
KCND3	3752	broad.mit.edu	37	chr1	112318869	112318869	+	Missense_Mutation	SNP	C	C	T													tttgcagtttggtctcagtcCgtcgtctgctttcaaattaa					rs149344567		TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr1:112318869C>T	uc001ebu.1	-	8	2278	c.1798G>A	c.(1798-1800)GGA>AGA	p.G600R	KCND3_uc001ebv.1_Missense_Mutation_p.G581R	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	600	Cytoplasmic (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGTCTCAGTCCGTCGTCTGCT	0.562													T	112318869	C	T	112318869	3	4	123	1	0	0	0	0	1	0	0	0	8020	661	23	1	173	1	KCND3	1	112318869	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	9	112318869	136931752	5	75211	338	2									
FCRLA	84824	broad.mit.edu	37	chr1	161681755	161681755	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgccaattctcagagctgtAccctcagctgaaccccaagc	8	16	2	2			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr1:161681755A>G	uc001gbe.2	+	5	842	c.600A>G	c.(598-600)GTA>GTG	p.V200V	FCRLA_uc001gbd.2_Silent_p.V194V|FCRLA_uc001gbf.2_Silent_p.V105V|FCRLA_uc001gbg.2_Silent_p.V54V|FCRLA_uc009wuo.2_Silent_p.V60V|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	177	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TCAGAGCTGTACCCTCAGCTG	0.522													G	161681755	A	G	161681755	2	3	123	1	0	0	0	0	0	0	0	1	5800	378	14	3		3	FCRLA	1	161681755	Silent	SNP	A	TCGA-BR-A4J4-01A-12D-A25D-08	49362886	161681755	87568866	6	75212											
C1orf65	164127	broad.mit.edu	37	chr1	223568231	223568231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgaggaaggagcggcaaCgcgagctgagggagaaggcc	19	9	0	3			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr1:223568231C>T	uc001hoa.2	+	1	1517	c.1414C>T	c.(1414-1416)CGC>TGC	p.R472C		NM_152610	NP_689823	Q8N715	CA065_HUMAN	hypothetical protein LOC164127	472	Potential.									central_nervous_system(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0704)		GGAGCGGCAACGCGAGCTGAG	0.607													T	223568231	C	T	223568231	3	4	123	1	0	0	0	0	1	0	0	0	2055	536	19	1	1416	1	C1orf65	1	223568231	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	61886476	223568231	25682390	7	75213											
TRIM67	440730	broad.mit.edu	37	chr1	231339757	231339757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgccgggggacagttccGggtgaggccttgctgcttat	17	10	0	1			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr1:231339757G>A	uc009xfn.1	+	6	1721	c.1679G>A	c.(1678-1680)CGG>CAG	p.R560Q		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	560	Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGACAGTTCCGGGTGAGGCCT	0.632													A	231339757	G	A	231339757	3	1	123	1	0	0	0	0	1	0	0	0	16537	1130	39	1	1701	1	TRIM67	1	231339757	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	7771526	231339757	17910864	8	75214											
OR2M3	127062	broad.mit.edu	37	chr1	248366497	248366497	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtggccttcatgggaaactCtgtcatggttctcctcatct	9	11	6	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr1:248366497C>A	uc010pzg.1	+	1	128	c.128C>A	c.(127-129)TCT>TAT	p.S43Y		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGGGAAACTCTGTCATGGTT	0.547													A	248366497	C	A	248366497	3	1	123	1	0	0	0	0	1	0	0	0	11011	913	32	5	130	5	OR2M3	1	248366497	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	17026740	248366497	884124	9	75215											
SH3BP5L	80851	broad.mit.edu	37	chr1	249108783	249108783	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggcccgctcgtaccgcagCgctgccttctgtgtctcctg	11	17	2	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr1:249108783C>T	uc001iew.1	-	5	954	c.402G>A	c.(400-402)GCG>GCA	p.A134A	SH3BP5L_uc010pzp.1_Silent_p.A27A|SH3BP5L_uc010pzq.1_Silent_p.A102A|SH3BP5L_uc001iev.1_Silent_p.A15A	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	134	Potential.										0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGTACCGCAGCGCTGCCTTCT	0.607													T	249108783	C	T	249108783	2	4	123	1	0	0	0	0	0	0	0	1	14248	755	27	1		1	SH3BP5L	1	249108783	Silent	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	742286	249108783	141838	10	75216											
C2orf53	339779	broad.mit.edu	37	chr2	27360429	27360429	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaggaggggctgcggggccGgaggcacaccaggcatatag	19	10	0	0	rs145326504	byFrequency	TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr2:27360429G>T	uc002rjb.2	-	3	1349	c.769C>A	c.(769-771)CGG>AGG	p.R257R	PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|PREB_uc002riz.1_5'Flank|PREB_uc002rja.1_5'Flank	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	hypothetical protein LOC339779	257											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCGGGGCCGGAGGCACACC	0.647													T	27360429	G	T	27360429	2	4	123	1	0	0	0	0	0	0	0	1	2174	1115	39	5		5	C2orf53	2	27360429	Silent	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08		27360429	215838944	11	75217											
VIT	5212	broad.mit.edu	37	chr2	36982155	36982155	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttattccaacggtgtccaaTcgttatccctaccacgatgg	8	12	0	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr2:36982155T>C	uc002rpl.2	+	5	588	c.367T>C	c.(367-369)TCG>CCG	p.S123P	VIT_uc002rpk.2_Missense_Mutation_p.S116P|VIT_uc010ynf.1_Missense_Mutation_p.S116P|VIT_uc002rpm.2_Missense_Mutation_p.S116P|VIT_uc010ezv.2_Missense_Mutation_p.S116P|VIT_uc010ezw.2_Missense_Mutation_p.S116P	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	123	LCCL.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				CGGTGTCCAATCGTTATCCCT	0.443													C	36982155	T	C	36982155	3	2	123	1	0	0	0	0	1	0	0	0	17168	1435	50	3	381	3	VIT	2	36982155	Missense_Mutation	SNP	T	TCGA-BR-A4J4-01A-12D-A25D-08	9621726	36982155	206217218	12	75218											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48848398	48848398	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttactcttcagttgccgcaCagcttgcaccaaacattgca	6	13	2	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr2:48848398C>G	uc010yol.1	+	4	2375	c.2328C>G	c.(2326-2328)CAC>CAG	p.H776Q	STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.H776Q|GTF2A1L_uc002rws.1_Missense_Mutation_p.H72Q|GTF2A1L_uc010yom.1_Missense_Mutation_p.H38Q|GTF2A1L_uc002rwt.2_Missense_Mutation_p.H72Q	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	776					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGTTGCCGCACAGCTTGCACC	0.408													G	48848398	C	G	48848398	3	3	123	1	0	0	0	0	1	0	0	0	15316	477	17	5	2342	5	STON1-GTF2A1L	2	48848398	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	11866243	48848398	194350975	13	75219											
MTIF2	4528	broad.mit.edu	37	chr2	55470638	55470638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcttttctttctaaaaacCgtagaattgatctcttcttc	4	9	5	2			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr2:55470638C>T	uc002ryn.2	-	13	2215	c.1478G>A	c.(1477-1479)CGG>CAG	p.R493Q	MTIF2_uc010yox.1_Missense_Mutation_p.R162Q|MTIF2_uc002ryo.2_Missense_Mutation_p.R493Q	NM_001005369	NP_001005369	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	493					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			ovary(1)	1						TTCTAAAAACCGTAGAATTGA	0.343													T	55470638	C	T	55470638	3	4	123	1	0	0	0	0	1	0	0	0	9934	652	23	1	725	1	MTIF2	2	55470638	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	6622240	55470638	187728735	14	75220											
NEB	4703	broad.mit.edu	37	chr2	152420119	152420119	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttaaagtggacatttacttaCcgcactcctcatcttttgga	6	10	2	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr2:152420119C>G	uc010fnx.2	-	91	13781	c.13590_splice	c.e91+1	p.A4530_splice	NEB_uc002txr.2_Splice_Site_p.A953_splice	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATTTACTTACCGCACTCCTC	0.468													G	152420119	C	G	152420119	5	3	123	1	0	0	0	0	0	0	1	0	10302	521	18	5	7248	5	NEB	2	152420119	Splice_Site	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	96949481	152420119	90779254	15	75221											
SCN1A	6323	broad.mit.edu	37	chr2	166852556	166852556	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataggcttttgcggttttttCgatcctaattttttcattgc	7	7	1	0	rs78041051	byFrequency	TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr2:166852556C>T	uc010zcz.1	-	24	4533	c.4515G>A	c.(4513-4515)TCG>TCA	p.S1505S		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1516						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1505L(1)		ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GCGGTTTTTTCGATCCTAATT	0.328													T	166852556	C	T	166852556	2	4	123	1	0	0	0	0	0	0	0	1	13914	871	31	1		1	SCN1A	2	166852556	Silent	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	14432437	166852556	76346817	16	75222											
OSBPL6	114880	broad.mit.edu	37	chr2	179197373	179197373	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtcttttgatttcagattcaGaaaggaaaggtccatgggag	12	5	3	3			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr2:179197373G>T	uc002ulx.2	+	7	756	c.378G>T	c.(376-378)CAG>CAT	p.Q126H	OSBPL6_uc002ulw.2_Missense_Mutation_p.Q126H|OSBPL6_uc002uly.2_Missense_Mutation_p.Q126H|OSBPL6_uc010zfe.1_Missense_Mutation_p.Q126H|OSBPL6_uc002ulz.2_Missense_Mutation_p.Q126H|OSBPL6_uc002uma.2_Missense_Mutation_p.Q105H	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	126	PH.				lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTCAGATTCAGAAAGGAAAGG	0.358													T	179197373	G	T	179197373	3	4	123	1	0	0	0	0	1	0	0	0	11281	933	33	5	439	5	OSBPL6	2	179197373	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	12344817	179197373	64002000	17	75223											
ITGA4	3676	broad.mit.edu	37	chr2	182350607	182350607	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctctccctttctatctaGggagcagtaatgaatgcaat	7	9	3	1			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr2:182350607G>A	uc002unu.2	+	10	1805	c.1042_splice	c.e10-1	p.G348_splice	ITGA4_uc010zfl.1_Splice_Site_p.G348_splice	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor						blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TTTCTATCTAGGGAGCAGTAA	0.368													A	182350607	G	A	182350607	5	1	123	1	0	0	0	0	0	0	1	0	7878	1014	35	4	1079	4	ITGA4	2	182350607	Splice_Site	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	3153234	182350607	60848766	18	75224											
SCG2	7857	broad.mit.edu	37	chr2	224462648	224462648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatatggattgggaaaataCgacgttttctgatttgctgc	10	5	1	1	rs143843249	byFrequency	TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr2:224462648C>T	uc002vnm.2	-	2	1486	c.1353G>A	c.(1351-1353)TCG>TCA	p.S451S		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	451					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			ovary(1)	1		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGGGAAAATACGACGTTTTCT	0.488													T	224462648	C	T	224462648	2	4	123	1	0	0	0	0	0	0	0	1	13891	523	19	1		1	SCG2	2	224462648	Silent	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	42112041	224462648	18736725	19	75225											
COL4A4	1286	broad.mit.edu	37	chr2	227919448	227919448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaaccaggcagcccccGgggtcctggtgaaatgagag	16	10	0	2			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr2:227919448G>A	uc010zlt.1	-	31	3376	c.2722C>T	c.(2722-2724)CGG>TGG	p.R908W		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	908	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGCAGCCCCCGGGGTCCTGGT	0.433													A	227919448	G	A	227919448	3	1	123	1	0	0	0	0	1	0	0	0	3693	1115	39	1	2422	1	COL4A4	2	227919448	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	3456800	227919448	15279925	20	75226											
ITIH1	3697	broad.mit.edu	37	chr3	52822070	52822070	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacccagcggctgccagacCgagtgaccggcggtgagtcc	14	14	0	3			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr3:52822070C>T	uc003dfs.2	+	17	2017	c.1993C>T	c.(1993-1995)CGA>TGA	p.R665*	ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Nonsense_Mutation_p.R266*|ITIH1_uc010hmo.1_Nonsense_Mutation_p.R219*|ITIH1_uc003dfu.2_Nonsense_Mutation_p.R31*	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	665	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GCTGCCAGACCGAGTGACCGG	0.597													T	52822070	C	T	52822070	4	4	123	1	0	0	0	0	0	1	0	0	7903	644	23	1	2059	1	ITIH1	3	52822070	Nonsense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08		52822070	145200360	21	75227											
IFT57	55081	broad.mit.edu	37	chr3	107881416	107881416	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctttgattggagtagtgTgtgttccacaatgccaattc	10	8	0	1			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr3:107881416T>C	uc003dwx.3	-	11	1446	c.1198A>G	c.(1198-1200)ACA>GCA	p.T400A		NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	estrogen-related receptor beta like 1	400	pDED.				activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			ovary(1)|skin(1)|pancreas(1)	3			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			TGGAGTAGTGTGTGTTCCACA	0.393													C	107881416	T	C	107881416	3	2	123	1	0	0	0	0	1	0	0	0	7562	1696	59	3	95	3	IFT57	3	107881416	Missense_Mutation	SNP	T	TCGA-BR-A4J4-01A-12D-A25D-08	55059346	107881416	90141014	22	75228											
ARHGAP31	57514	broad.mit.edu	37	chr3	119102043	119102043	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtagatcaaatctttaacAacggtgcacctgggtctctg	9	9	3	1			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr3:119102043A>C	uc003ecj.3	+	6	1184	c.652A>C	c.(652-654)AAC>CAC	p.N218H		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	218					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						AATCTTTAACAACGGTGCACC	0.483													C	119102043	A	C	119102043	3	2	123	1	0	0	0	0	1	0	0	0	880	130	5	5	674	5	ARHGAP31	3	119102043	Missense_Mutation	SNP	A	TCGA-BR-A4J4-01A-12D-A25D-08	11220627	119102043	78920387	23	75229											
PLSCR4	57088	broad.mit.edu	37	chr3	145917695	145917695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccatacaatcagtgacccGgaggacgaagggccttagtg	13	11	1	1	rs34036393		TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr3:145917695G>A	uc010huy.2	-	6	858	c.529C>T	c.(529-531)CGG>TGG	p.R177W	PLSCR4_uc010huz.2_Missense_Mutation_p.R177W|PLSCR4_uc003evt.3_Missense_Mutation_p.R177W|PLSCR4_uc010hva.2_Intron|PLSCR4_uc003evu.3_Intron	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4 isoform a	177	Cytoplasmic (By similarity).				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding				0						TCAGTGACCCGGAGGACGAAG	0.483													A	145917695	G	A	145917695	3	1	123	1	0	0	0	0	1	0	0	0	12112	1115	39	1	476	1	PLSCR4	3	145917695	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	26815652	145917695	52104735	24	75230											
DVL3	1857	broad.mit.edu	37	chr3	183885732	183885732	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaatgtggaaggcttcacGgaccggagggaggcccgcaa	15	11	1	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr3:183885732G>A	uc003fms.2	+	13	1517	c.1377G>A	c.(1375-1377)ACG>ACA	p.T459T	DVL3_uc011bqw.1_Silent_p.T442T|DVL3_uc003fmt.2_Silent_p.T130T|DVL3_uc003fmu.2_Silent_p.T291T	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	459	DEP.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			AAGGCTTCACGGACCGGAGGG	0.572													A	183885732	G	A	183885732	2	1	123	1	0	0	0	0	0	0	0	1	4837	1103	39	1		1	DVL3	3	183885732	Silent	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	37968037	183885732	14136698	25	75231											
RBM47	54502	broad.mit.edu	37	chr4	40428122	40428122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtaggaattctctgaacGtttggagccaccgtgtatac	11	9	1	1			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr4:40428122G>A	uc003gvc.2	-	7	2291	c.1581C>T	c.(1579-1581)AAC>AAT	p.N527N	RBM47_uc003gvd.2_Silent_p.N458N|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Silent_p.N489N	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	527	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(3)	3						TTCTCTGAACGTTTGGAGCCA	0.527													A	40428122	G	A	40428122	2	1	123	1	0	0	0	0	0	0	0	1	13141	1136	40	1		1	RBM47	4	40428122	Silent	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08		40428122	150726154	26	75232											
HERC5	51191	broad.mit.edu	37	chr4	89391825	89391825	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagttttttaaggaaaagGtaatatatgtaataaattaa	8	0	0	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr4:89391825G>A	uc003hrt.2	+	10	1451	c.1298_splice	c.e10+1	p.R433_splice	HERC5_uc011cdm.1_Splice_Site_p.R71_splice	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5						innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TAAGGAAAAGGTAATATATGT	0.299													A	89391825	G	A	89391825	5	1	123	1	0	0	0	0	0	0	1	0	7061	1275	44	4	1337	4	HERC5	4	89391825	Splice_Site	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	48963703	89391825	101762451	27	75233											
EMCN	51705	broad.mit.edu	37	chr4	101342516	101342516	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttattacaatcaaagcaataAccaccggcaaaataatacct	3	10	1	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr4:101342516A>C	uc003hvr.2	-	8	766	c.587T>G	c.(586-588)GTT>GGT	p.V196G	EMCN_uc011cel.1_Missense_Mutation_p.V183G|EMCN_uc011cem.1_Intron	NM_016242	NP_057326	Q9ULC0	MUCEN_HUMAN	endomucin isoform 1	196	Helical; (Potential).					extracellular region|integral to membrane|plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		CAAAGCAATAACCACCGGCAA	0.398													C	101342516	A	C	101342516	3	2	123	1	0	0	0	0	1	0	0	0	5086	43	2	5	214	5	EMCN	4	101342516	Missense_Mutation	SNP	A	TCGA-BR-A4J4-01A-12D-A25D-08	11950691	101342516	89811760	28	75234											
FSTL5	56884	broad.mit.edu	37	chr4	162307215	162307215	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtaaaggatggttgaaatGccagatcagatatgtgcaga	12	5	1	4			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr4:162307215G>T	uc003iqh.2	-	16	2664	c.2228C>A	c.(2227-2229)GCA>GAA	p.A743E	FSTL5_uc003iqi.2_Missense_Mutation_p.A742E|FSTL5_uc010iqv.2_Missense_Mutation_p.A733E|uc010iqu.1_RNA	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	743						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGGTTGAAATGCCAGATCAGA	0.413													T	162307215	G	T	162307215	3	4	123	1	0	0	0	0	1	0	0	0	6080	1319	46	5	319	5	FSTL5	4	162307215	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	60964699	162307215	28847061	29	75235											
ADAMTS12	81792	broad.mit.edu	37	chr5	33588884	33588884	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtggggcccgcatgtcgcCgagcatgcttcccactcccc	11	19	0	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr5:33588884C>T	uc003jia.1	-	18	2848	c.2685G>A	c.(2683-2685)TCG>TCA	p.S895S	ADAMTS12_uc010iuq.1_Silent_p.S810S	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	895	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						CGCATGTCGCCGAGCATGCTT	0.587										HNSCC(64;0.19)	OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	33588884	C	T	33588884	2	4	123	1	0	0	0	0	0	0	0	1	257	639	23	1		1	ADAMTS12	5	33588884	Silent	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08		33588884	147326376	30	75236											
IL7R	3575	broad.mit.edu	37	chr5	35876556	35876556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatcaagaagaagcatatGtcaccatgtccagcttctac	6	11	3	2			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr5:35876556G>A	uc003jjs.2	+	8	1437	c.1348G>A	c.(1348-1350)GTC>ATC	p.V450I	IL7R_uc011cop.1_RNA	NM_002185	NP_002176	P16871	IL7RA_HUMAN	interleukin 7 receptor precursor	450	Cytoplasmic (Potential).				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			ovary(3)|breast(1)|skin(1)	5	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGAAGCATATGTCACCATGTC	0.448													A	35876556	G	A	35876556	3	1	123	1	0	0	0	0	1	0	0	0	7705	1377	48	4	1378	4	IL7R	5	35876556	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	2287672	35876556	145038704	31	75237											
CMYA5	202333	broad.mit.edu	37	chr5	79033258	79033258	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccactgtcttcagcaaaaagCaactatgctcaatttatatc	4	11	3	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr5:79033258C>A	uc003kgc.2	+	2	8742	c.8670C>A	c.(8668-8670)AGC>AGA	p.S2890R		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2890						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGCAAAAAGCAACTATGCTC	0.398													A	79033258	C	A	79033258	3	1	123	1	0	0	0	0	1	0	0	0	3590	709	25	5	8676	5	CMYA5	5	79033258	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	43156702	79033258	101882002	32	75238											
EDIL3	10085	broad.mit.edu	37	chr5	83402534	83402534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagccccttcttattaagaCgtgcatagtagggataccat	8	9	1	1			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr5:83402534C>T	uc003kio.1	-	6	1003	c.584G>A	c.(583-585)CGT>CAT	p.R195H	EDIL3_uc003kip.1_Missense_Mutation_p.R185H	NM_005711	NP_005702	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like	195	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			skin(2)	2		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CTTATTAAGACGTGCATAGTA	0.433													T	83402534	C	T	83402534	3	4	123	1	0	0	0	0	1	0	0	0	4915	536	19	1	882	1	EDIL3	5	83402534	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	4369276	83402534	97512726	33	75239											
GRIA1	2890	broad.mit.edu	37	chr5	153085480	153085480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctcttcctggtcagccGcttcagtccctatgaatggc	9	14	3	1			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr5:153085480G>A	uc003lva.3	+	11	2041	c.1676G>A	c.(1675-1677)CGC>CAC	p.R559H	GRIA1_uc003luy.3_Missense_Mutation_p.R559H|GRIA1_uc003luz.3_Missense_Mutation_p.R464H|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.R479H|GRIA1_uc011dcx.1_Missense_Mutation_p.R490H|GRIA1_uc011dcy.1_Missense_Mutation_p.R569H|GRIA1_uc011dcz.1_Missense_Mutation_p.R569H|GRIA1_uc010jia.1_Missense_Mutation_p.R539H	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	559	Cytoplasmic (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTGGTCAGCCGCTTCAGTCCC	0.483													A	153085480	G	A	153085480	3	1	123	1	0	0	0	0	1	0	0	0	6767	1087	38	1	1718	1	GRIA1	5	153085480	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	69682946	153085480	27829780	34	75240											
GCM2	9247	broad.mit.edu	37	chr6	10874928	10874928	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagggtttgccaattcatagCtgcaaggtggcctaggcaaa	12	9	1	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr6:10874928C>A	uc003mzn.3	-	5	893	c.821G>T	c.(820-822)AGC>ATC	p.S274I	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	glial cells missing homolog 2	274					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CAATTCATAGCTGCAAGGTGG	0.453													A	10874928	C	A	10874928	3	1	123	1	0	0	0	0	1	0	0	0	6298	797	28	5	703	5	GCM2	6	10874928	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08		10874928	160240139	35	75241											
SHPRH	257218	broad.mit.edu	37	chr6	146240548	146240548	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gctccctaggatcacgcactCttagtcgttctgtagccatt	8	13	3	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr6:146240548C>G	uc003qlf.2	-	22	4487	c.4088G>C	c.(4087-4089)AGA>ACA	p.R1363T	SHPRH_uc003qld.2_Missense_Mutation_p.R1367T|SHPRH_uc003qle.2_Missense_Mutation_p.R1367T|SHPRH_uc003qlg.1_Missense_Mutation_p.R919T|SHPRH_uc003qlh.2_Missense_Mutation_p.R288T|SHPRH_uc003qli.1_Missense_Mutation_p.R288T	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	1363					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATCACGCACTCTTAGTCGTTC	0.433													G	146240548	C	G	146240548	3	3	123	1	0	0	0	0	1	0	0	0	14291	913	32	5	1016	5	SHPRH	6	146240548	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	135365620	146240548	24874519	36	75242											
STXBP5	134957	broad.mit.edu	37	chr6	147685193	147685193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgccccttaccaatatgcGgatagccagaacgttctgct	8	13	1	1			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr6:147685193G>A	uc003qlz.2	+	25	3133	c.2972G>A	c.(2971-2973)CGG>CAG	p.R991Q	STXBP5_uc010khz.1_Missense_Mutation_p.R955Q|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.R646Q	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	991					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ACCAATATGCGGATAGCCAGA	0.363													A	147685193	G	A	147685193	3	1	123	1	0	0	0	0	1	0	0	0	15355	1116	39	1	3070	1	STXBP5	6	147685193	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	1444645	147685193	23429874	37	75243											
ARID1B	57492	broad.mit.edu	37	chr6	157528141	157528141	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaatattgtccgtagcttgTcattcgtgcctggcaatgat	9	10	1	1			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr6:157528141T>C	uc003qqn.2	+	20	5964	c.5812T>C	c.(5812-5814)TCA>CCA	p.S1938P	ARID1B_uc003qqo.2_Missense_Mutation_p.S1898P|ARID1B_uc003qqp.2_Missense_Mutation_p.S1885P	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1943					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCGTAGCTTGTCATTCGTGCC	0.547													C	157528141	T	C	157528141	3	2	123	1	0	0	0	0	1	0	0	0	914	1667	58	3	5944	3	ARID1B	6	157528141	Missense_Mutation	SNP	T	TCGA-BR-A4J4-01A-12D-A25D-08	9842948	157528141	13586926	38	75244											
TNS3	64759	broad.mit.edu	37	chr7	47342944	47342944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactggggcggtgccgaagcCcaggaaggcctggctgctgg	18	12	0	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr7:47342944C>T	uc003tnv.2	-	22	3428	c.3061G>A	c.(3061-3063)GGC>AGC	p.G1021S	TNS3_uc003tnw.2_Missense_Mutation_p.G1021S	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	1021						focal adhesion	protein binding			ovary(4)	4						GTGCCGAAGCCCAGGAAGGCC	0.682													T	47342944	C	T	47342944	3	4	123	1	0	0	0	0	1	0	0	0	16341	623	22	4	1316	4	TNS3	7	47342944	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08		47342944	111795719	39	75245											
IKZF1	10320	broad.mit.edu	37	chr7	50468286	50468286	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccggtacgagttctcgtcGcacataacgcgaggggagca	14	11	1	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr7:50468286G>A	uc003tow.3	+	9	1689	c.1521G>A	c.(1519-1521)TCG>TCA	p.S507S	IKZF1_uc003tox.3_Silent_p.S465S|IKZF1_uc003toy.3_Silent_p.S465S|IKZF1_uc011kck.1_Silent_p.S420S|IKZF1_uc003toz.3_Silent_p.S477S|IKZF1_uc010kyx.2_Silent_p.S247S|IKZF1_uc003tpa.3_Silent_p.S249S	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	507	C2H2-type 6.				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.S507*(1)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AGTTCTCGTCGCACATAACGC	0.617			D		ALL								A	50468286	G	A	50468286	2	1	123	1	0	0	0	0	0	0	0	1	7614	1074	38	1		1	IKZF1	7	50468286	Silent	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	3125342	50468286	108670377	40	75246											
FOXP2	93986	broad.mit.edu	37	chr7	114299725	114299725	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcgtaatgcagcaacttgGaaggtaactacttttccagc	10	9	0	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr7:114299725G>A	uc003vhb.2	+	13	2018	c.1644G>A	c.(1642-1644)TGG>TGA	p.W548*	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Nonsense_Mutation_p.W573*|FOXP2_uc003vha.2_Nonsense_Mutation_p.W456*|FOXP2_uc011kmu.1_Nonsense_Mutation_p.W565*|FOXP2_uc011kmv.1_Nonsense_Mutation_p.W547*|FOXP2_uc010ljz.1_Nonsense_Mutation_p.W363*|FOXP2_uc003vhe.1_Nonsense_Mutation_p.W118*	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	548	Fork-head.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						CAGCAACTTGGAAGGTAACTA	0.289													A	114299725	G	A	114299725	4	1	123	1	0	0	0	0	0	1	0	0	6027	1183	41	4	1857	4	FOXP2	7	114299725	Nonsense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	63831439	114299725	44838938	41	75247											
RBM33	155435	broad.mit.edu	37	chr7	155499703	155499703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accagaggagagagagcaccGagaggggcaggatgaaggac	18	7	0	5			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr7:155499703G>A	uc010lqk.1	+	7	1257	c.889G>A	c.(889-891)GAG>AAG	p.E297K	RBM33_uc011kvv.1_Missense_Mutation_p.E106K	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	297							nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AGAGAGCACCGAGAGGGGCAG	0.577													A	155499703	G	A	155499703	3	1	123	1	0	0	0	0	1	0	0	0	13130	1059	37	1	915	1	RBM33	7	155499703	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	41199978	155499703	3638960	42	75248											
OSGIN2	734	broad.mit.edu	37	chr8	90937640	90937640	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgcattgggtcctttggtTggagacaattttgttcgatt	11	5	0	1			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr8:90937640T>G	uc003yeg.2	+	6	1744	c.1398T>G	c.(1396-1398)GTT>GTG	p.V466V	OSGIN2_uc003yeh.2_Silent_p.V510V	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family	466					germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GTCCTTTGGTTGGAGACAATT	0.408													G	90937640	T	G	90937640	2	3	123	1	0	0	0	0	0	0	0	1	11290	1799	63	5		5	OSGIN2	8	90937640	Silent	SNP	T	TCGA-BR-A4J4-01A-12D-A25D-08		90937640	55426382	43	75249											
ZFPM2	23414	broad.mit.edu	37	chr8	106800947	106800947	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttttttcttcttaataggGggtcagctttggtgtacaac	9	7	4	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr8:106800947G>A	uc003ymd.2	+	6	557	c.534G>A	c.(532-534)GGG>GGA	p.G178G	ZFPM2_uc011lhs.1_5'UTR	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	178					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCTTAATAGGGGGTCAGCTTT	0.408													A	106800947	G	A	106800947	2	1	123	1	0	0	0	0	0	0	0	1	17655	1246	43	4		4	ZFPM2	8	106800947	Silent	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	15863307	106800947	39563075	44	75250											
SPIN1	10927	broad.mit.edu	37	chr9	91083396	91083396	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatgagtggaggggaatggtCttagcacgtgcacctgtcat	15	7	2	1			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr9:91083396C>T	uc010mqj.2	+	5	965	c.465C>T	c.(463-465)GTC>GTT	p.V155V	SPIN1_uc004apy.2_Silent_p.V155V|SPIN1_uc004apz.2_Silent_p.V155V|SPIN1_uc010mqk.2_Silent_p.V155V	NM_006717	NP_006708	Q9Y657	SPIN1_HUMAN	spindlin	155					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding				0						GGGGAATGGTCTTAGCACGTG	0.438													T	91083396	C	T	91083396	2	4	123	1	0	0	0	0	0	0	0	1	15051	900	32	4		4	SPIN1	9	91083396	Silent	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08		91083396	50130035	45	75251											
RNF20	56254	broad.mit.edu	37	chr9	104317113	104317113	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacctacagaagaagctagcCatggccaagcaggtggactc	11	11	0	2			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr9:104317113C>A	uc004bbn.2	+	15	2247	c.2157C>A	c.(2155-2157)GCC>GCA	p.A719A		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	719	Potential.				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AGAAGCTAGCCATGGCCAAGC	0.378													A	104317113	C	A	104317113	2	1	123	1	0	0	0	0	0	0	0	1	13473	581	21	5		5	RNF20	9	104317113	Silent	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	13233717	104317113	36896318	46	75252											
CRB2	286204	broad.mit.edu	37	chr9	126133738	126133738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctccaggacctgcgactcGatggctgccacctccccttc	9	19	0	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr9:126133738G>A	uc004bnx.1	+	8	2409	c.2317G>A	c.(2317-2319)GAT>AAT	p.D773N	CRB2_uc004bnw.1_Missense_Mutation_p.D773N	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	773	Extracellular (Potential).|Laminin G-like 2.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						CCTGCGACTCGATGGCTGCCA	0.682													A	126133738	G	A	126133738	3	1	123	1	0	0	0	0	1	0	0	0	3849	1058	37	1	2347	1	CRB2	9	126133738	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	21816625	126133738	15079693	47	75253											
COL5A1	1289	broad.mit.edu	37	chr9	137716542	137716542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctggacgacgggaatggcGagaactacgtggactacgcg	16	9	0	1	rs149212775	byFrequency	TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr9:137716542G>A	uc004cfe.2	+	62	5177	c.4795G>A	c.(4795-4797)GAG>AAG	p.E1599K	uc004cff.2_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1599	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGGGAATGGCGAGAACTACGT	0.632													A	137716542	G	A	137716542	3	1	123	1	0	0	0	0	1	0	0	0	3696	1059	37	1	5041	1	COL5A1	9	137716542	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	11582804	137716542	3496889	48	75254											
SLC34A3	142680	broad.mit.edu	37	chr9	140130522	140130522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtgaccgcccgttaccGctgggtggctggggtctacc	17	12	1	1	rs138872455	byFrequency	TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr9:140130522G>A	uc004cmf.1	+	13	1640	c.1454G>A	c.(1453-1455)CGC>CAC	p.R485H	SLC34A3_uc011met.1_Missense_Mutation_p.R485H	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	solute carrier family 34 (sodium phosphate),	485	Cytoplasmic (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCCGTTACCGCTGGGTGGCT	0.697											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	140130522	G	A	140130522	3	1	123	1	0	0	0	0	1	0	0	0	14569	1087	38	1	1500	1	SLC34A3	9	140130522	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	2413980	140130522	1082909	49	75255											
PHYH	5264	broad.mit.edu	37	chr10	13336443	13336443	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgacctcggggagagtgcaGtatctgaagagctccttatc	12	10	1	4			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr10:13336443G>T	uc001imf.2	-	4	487	c.399C>A	c.(397-399)TAC>TAA	p.Y133*	PHYH_uc001ime.2_Nonsense_Mutation_p.Y33*|PHYH_uc001img.2_Nonsense_Mutation_p.Y114*	NM_006214	NP_006205	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase isoform a precursor	133					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding				0		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GGAGAGTGCAGTATCTGAAGA	0.443													T	13336443	G	T	13336443	4	4	123	1	0	0	0	0	0	1	0	0	11864	1024	36	5	641	5	PHYH	10	13336443	Nonsense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08		13336443	122198304	50	75256											
CUBN	8029	broad.mit.edu	37	chr10	16990548	16990548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcagagacgaatctcagcGtcagggcgctgctgaaggat	13	9	3	2			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr10:16990548G>A	uc001ioo.2	-	35	5190	c.5138C>T	c.(5137-5139)ACG>ATG	p.T1713M		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1713	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAATCTCAGCGTCAGGGCGCT	0.512													A	16990548	G	A	16990548	3	1	123	1	0	0	0	0	1	0	0	0	4051	1145	40	1	5865	1	CUBN	10	16990548	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	3654105	16990548	118544199	51	75257											
RASSF4	83937	broad.mit.edu	37	chr10	45486417	45486417	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggacaaaattaaaagactGcgagtacccgctgatttcca	9	10	0	2			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr10:45486417G>T	uc001jbo.2	+	9	841	c.707G>T	c.(706-708)TGC>TTC	p.C236F	RASSF4_uc001jbp.2_Missense_Mutation_p.C267F|RASSF4_uc009xmn.2_Missense_Mutation_p.C166F|RASSF4_uc001jbq.2_Missense_Mutation_p.C133F|RASSF4_uc001jbt.2_Missense_Mutation_p.C193F	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN	Ras association domain family 4	236	Ras-associating.				cell cycle|signal transduction		protein binding			large_intestine(1)	1						TTAAAAGACTGCGAGTACCCG	0.468													T	45486417	G	T	45486417	3	4	123	1	0	0	0	0	1	0	0	0	13088	1319	46	5	737	5	RASSF4	10	45486417	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	28495869	45486417	90048330	52	75258											
CTNNA3	29119	broad.mit.edu	37	chr10	67726396	67726396	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgatgagctctcctcccaGgttctggatctcagctttaa	8	12	3	2			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr10:67726396G>T	uc009xpn.1	-	17	2497	c.2374C>A	c.(2374-2376)CTG>ATG	p.L792M	CTNNA3_uc001jmw.2_Missense_Mutation_p.L792M	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	792					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						TCTCCTCCCAGGTTCTGGATC	0.448													T	67726396	G	T	67726396	3	4	123	1	0	0	0	0	1	0	0	0	4014	991	35	5	321	5	CTNNA3	10	67726396	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	22239979	67726396	67808351	53	75259											
KIAA1279	26128	broad.mit.edu	37	chr10	70775550	70775550	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttctttcagattgatggttAtgtcactgaccatattgaag	9	6	3	4			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr10:70775550A>G	uc001joy.2	+	7	1340	c.1244A>G	c.(1243-1245)TAT>TGT	p.Y415C		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	KIF1 binding protein	415					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			ovary(1)	1						ATTGATGGTTATGTCACTGAC	0.403													G	70775550	A	G	70775550	3	3	123	1	0	0	0	0	1	0	0	0	8221	449	16	3	1270	3	KIAA1279	10	70775550	Missense_Mutation	SNP	A	TCGA-BR-A4J4-01A-12D-A25D-08	3049154	70775550	64759197	54	75260											
HSPA12A	259217	broad.mit.edu	37	chr10	118451920	118451920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttccagatggcaggcaccGtgatgacccatctgacatca	10	13	2	4			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr10:118451920G>A	uc001lct.2	-	6	710	c.605C>T	c.(604-606)ACG>ATG	p.T202M	HSPA12A_uc001lcu.2_Missense_Mutation_p.T119M	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	202							ATP binding			ovary(1)	1				all cancers(201;0.0158)		GGCAGGCACCGTGATGACCCA	0.577													A	118451920	G	A	118451920	3	1	123	1	0	0	0	0	1	0	0	0	7404	1145	40	1	1450	1	HSPA12A	10	118451920	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	47676370	118451920	17082827	55	75261											
OR4C13	283092	broad.mit.edu	37	chr11	49974639	49974639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcgtggtcatactgtactCcttaaagacccacagcttag	8	12	1	1			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr11:49974639C>T	uc010rhz.1	+	1	665	c.665C>T	c.(664-666)TCC>TTC	p.S222F		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	222	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						ATACTGTACTCCTTAAAGACC	0.478													T	49974639	C	T	49974639	3	4	123	1	0	0	0	0	1	0	0	0	11047	855	30	4	667	4	OR4C13	11	49974639	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08		49974639	85031877	56	75262											
FDXACB1	91893	broad.mit.edu	37	chr11	111750129	111750129	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttgagcgacttcatcaCacctgcatgaggtcacaagc	10	13	3	2			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr11:111750129C>T	uc001pmc.3	-	1	25	c.-272G>A	c.(-274--270)GTGTG>GTATG		ALG9_uc010rwo.1_Translation_Start_Site|FDXACB1_uc009yyi.2_Translation_Start_Site|C11orf1_uc001pmd.2_5'UTR|C11orf1_uc001pme.2_5'Flank	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain						phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0						GACTTCATCACACCTGCATGA	0.577											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	111750129	C	T	111750129	1	4	123	1	0	0	0	0	0	0	0	0	5806	493	17	4		4	FDXACB1	11	111750129	Translation_Start_Site	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	61775490	111750129	23256387	57	75263											
ZBTB16	7704	broad.mit.edu	37	chr11	114112981	114112981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggtccacgcgggcgtgCgcagctacatctgcagtgag	16	11	1	1			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr11:114112981C>T	uc001pop.2	+	5	1810	c.1546C>T	c.(1546-1548)CGC>TGC	p.R516C	ZBTB16_uc001poq.2_Missense_Mutation_p.R516C	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	516					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CGCGGGCGTGCGCAGCTACAT	0.627													T	114112981	C	T	114112981	3	4	123	1	0	0	0	0	1	0	0	0	17523	768	27	1	1560	1	ZBTB16	11	114112981	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	2362852	114112981	20893535	58	75264											
DSCAML1	57453	broad.mit.edu	37	chr11	117395775	117395775	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagtggaagccatccaggaTggtggggatcgactcagcag	17	8	1	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr11:117395775T>C	uc001prh.1	-	5	864	c.862A>G	c.(862-864)ATC>GTC	p.I288V	DSCAML1_uc001pri.1_Missense_Mutation_p.I92V	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	228	Ig-like C2-type 3.|Extracellular (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCATCCAGGATGGTGGGGATC	0.677													C	117395775	T	C	117395775	3	2	123	1	0	0	0	0	1	0	0	0	4769	1464	51	3	5595	3	DSCAML1	11	117395775	Missense_Mutation	SNP	T	TCGA-BR-A4J4-01A-12D-A25D-08	3282794	117395775	17610741	59	75265											
MFRP	83552	broad.mit.edu	37	chr11	119217033	119217033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcctctgggaaaactggggGagggcagggtggcccagact	17	9	1	1			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr11:119217033G>A	uc001pwj.2	-	2	266	c.106C>T	c.(106-108)CCC>TCC	p.P36S	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.P36S	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	62	Collagen-like.					collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		AAAACTGGGGGAGGGCAGGGT	0.637													A	119217033	G	A	119217033	3	1	123	1	0	0	0	0	1	0	0	0	9526	1174	41	4	1681	4	MFRP	11	119217033	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	1821258	119217033	15789483	60	75266											
VWF	7450	broad.mit.edu	37	chr12	6128308	6128308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgcttctcgatgaggcGgatctgcttgaggttggcat	15	9	2	2			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr12:6128308G>A	uc001qnn.1	-	28	4526	c.4276C>T	c.(4276-4278)CGC>TGC	p.R1426C	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1426	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	TCGATGAGGCGGATCTGCTTG	0.572													A	6128308	G	A	6128308	3	1	123	1	0	0	0	0	1	0	0	0	17243	1116	39	1	4265	1	VWF	12	6128308	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08		6128308	127723587	61	75267											
CHD4	1108	broad.mit.edu	37	chr12	6692411	6692411	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agttgacctgtttacggattCtttttcctttgcccagattt	7	9	1	2			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr12:6692411C>A	uc001qpo.2	-	26	4177	c.4013G>T	c.(4012-4014)AGA>ATA	p.R1338I	CHD4_uc001qpn.2_Missense_Mutation_p.R1331I|CHD4_uc001qpp.2_Missense_Mutation_p.R1335I|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1338					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTTACGGATTCTTTTTCCTTT	0.552													A	6692411	C	A	6692411	3	1	123	1	0	0	0	0	1	0	0	0	3327	913	32	5	1785	5	CHD4	12	6692411	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	564103	6692411	127159484	62	75268											
EMG1	10436	broad.mit.edu	37	chr12	7083744	7083744	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatggatagtcccctgAaccgagctggcttgctacag	12	11	0	2			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr12:7083744A>G	uc001qsh.3	+	5	444	c.301A>G	c.(301-303)AAC>GAC	p.N101D	EMG1_uc009zfo.2_Intron|EMG1_uc010sfv.1_RNA	NM_006331	NP_006322	Q92979	NEP1_HUMAN	ribosome biogenesis protein NEP1	101					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding				0						TAGTCCCCTGAACCGAGCTGG	0.488													G	7083744	A	G	7083744	3	3	123	1	0	0	0	0	1	0	0	0	5090	246	9	3	310	3	EMG1	12	7083744	Missense_Mutation	SNP	A	TCGA-BR-A4J4-01A-12D-A25D-08	391333	7083744	126768151	63	75269											
CSAD	51380	broad.mit.edu	37	chr12	53566164	53566164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctcagtgataatgcgccCggccagagcatggggatcca	13	12	1	2			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr12:53566164C>T	uc001sby.2	-	5	436	c.310G>A	c.(310-312)GGG>AGG	p.G104R	CSAD_uc001sbw.2_Intron|CSAD_uc009zmt.2_5'UTR|CSAD_uc010snx.1_Missense_Mutation_p.G131R|CSAD_uc001sbz.2_Missense_Mutation_p.G104R|CSAD_uc009zmu.2_Intron|CSAD_uc001sca.3_RNA|CSAD_uc010sny.1_Missense_Mutation_p.G104R	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	104					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	ATAATGCGCCCGGCCAGAGCA	0.567									Hereditary_Prostate_Cancer				T	53566164	C	T	53566164	3	4	123	1	0	0	0	0	1	0	0	0	3925	652	23	1	1219	1	CSAD	12	53566164	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	46482420	53566164	80285731	64	75270											
SRGAP1	57522	broad.mit.edu	37	chr12	64485106	64485106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacaggaagtccaggccccGctcacagtataatactaagt	8	12	1	0	rs149964620		TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr12:64485106G>A	uc010ssp.1	+	12	1543	c.1487G>A	c.(1486-1488)CGC>CAC	p.R496H	SRGAP1_uc001srv.2_Intron	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	496					axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TCCAGGCCCCGCTCACAGTAT	0.453													A	64485106	G	A	64485106	3	1	123	1	0	0	0	0	1	0	0	0	15144	1087	38	1	1533	1	SRGAP1	12	64485106	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	10918942	64485106	69366789	65	75271											
LGR5	8549	broad.mit.edu	37	chr12	71833964	71833964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgttgctgaggggctgccCcacacactgtcattgcgagc	13	12	1	1			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr12:71833964C>T	uc001swl.2	+	1	152	c.104C>T	c.(103-105)CCC>CTC	p.P35L	TSPAN8_uc001swk.1_Intron|LGR5_uc001swm.2_Missense_Mutation_p.P35L|LGR5_uc001swn.1_RNA	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	35	LRRNT.|Extracellular (Potential).					integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						AGGGGCTGCCCCACACACTGT	0.662													T	71833964	C	T	71833964	3	4	123	1	0	0	0	0	1	0	0	0	8757	623	22	4	106	4	LGR5	12	71833964	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	7348858	71833964	62017931	66	75272											
NOS1	4842	broad.mit.edu	37	chr12	117723124	117723124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgggccgtggtgcagtcaCgggcatcgaatacctggaag	16	10	1	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr12:117723124C>T	uc001twm.1	-	7	1990	c.1304G>A	c.(1303-1305)CGT>CAT	p.R435H		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	435					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGTGCAGTCACGGGCATCGAA	0.557													T	117723124	C	T	117723124	3	4	123	1	0	0	0	0	1	0	0	0	10541	536	19	1	3092	1	NOS1	12	117723124	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	45889160	117723124	16128771	67	75273											
SYNE2	23224	broad.mit.edu	37	chr14	64596520	64596520	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaagcagatgcatatacagtGgagctggagaacgccgagag	14	7	0	3			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr14:64596520G>C	uc001xgm.2	+	75	14270	c.14040G>C	c.(14038-14040)GTG>GTC	p.V4680V	SYNE2_uc001xgl.2_Silent_p.V4680V|SYNE2_uc010apy.2_Silent_p.V1065V|SYNE2_uc010apz.1_Silent_p.V572V	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4680	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CATATACAGTGGAGCTGGAGA	0.403													C	64596520	G	C	64596520	2	2	123	1	0	0	0	0	0	0	0	1	15443	1335	47	5		5	SYNE2	14	64596520	Silent	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08		64596520	42753020	68	75274											
CCDC88C	440193	broad.mit.edu	37	chr14	91749697	91749697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcggcctgggtgccgggCgatgggggtggagttggaag	24	6	0	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr14:91749697C>T	uc010aty.2	-	26	4705	c.4606G>A	c.(4606-4608)GCC>ACC	p.A1536T	CCDC88C_uc001xzj.2_Missense_Mutation_p.A60T|CCDC88C_uc001xzi.2_5'UTR	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	1536					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				GGGTGCCGGGCGATGGGGGTG	0.642													T	91749697	C	T	91749697	3	4	123	1	0	0	0	0	1	0	0	0	2865	768	27	1	1500	1	CCDC88C	14	91749697	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	27153177	91749697	15599843	69	75275											
IL16	3603	broad.mit.edu	37	chr15	81592486	81592486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcccccctggcccggaccCgctcctaaggctgctgtcaa	9	19	2	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr15:81592486C>T	uc002bgh.3	+	14	3195	c.2819C>T	c.(2818-2820)CCG>CTG	p.P940L	IL16_uc010blq.1_Missense_Mutation_p.P894L|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.P982L|IL16_uc002bgg.2_Missense_Mutation_p.P940L|IL16_uc002bgi.1_Missense_Mutation_p.P330L|IL16_uc002bgj.2_Missense_Mutation_p.P434L|IL16_uc002bgk.2_Missense_Mutation_p.P239L|IL16_uc002bgl.1_Missense_Mutation_p.P239L|IL16_uc010unq.1_Missense_Mutation_p.P239L	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	940					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						GGCCCGGACCCGCTCCTAAGG	0.657													T	81592486	C	T	81592486	3	4	123	1	0	0	0	0	1	0	0	0	7633	652	23	1	2869	1	IL16	15	81592486	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08		81592486	20938906	70	75276											
ZNF263	10127	broad.mit.edu	37	chr16	3334025	3334025	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagagctttgccatgggtgGcttcggcctgagatgcgcac	14	11	0	2			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr16:3334025G>T	uc002cuq.2	+	1	539	c.207G>T	c.(205-207)TGG>TGT	p.W69C	ZNF263_uc010uww.1_Intron|ZNF263_uc002cup.2_Missense_Mutation_p.W69C	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	69	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(3)|ovary(1)	4						GCCATGGGTGGCTTCGGCCTG	0.637													T	3334025	G	T	3334025	3	4	123	1	0	0	0	0	1	0	0	0	17800	1212	42	5	209	5	ZNF263	16	3334025	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08		3334025	87020728	71	75277											
BBS2	583	broad.mit.edu	37	chr16	56544774	56544775	+	Frame_Shift_Del	DEL	TT	TT	-													tctcctcccccacatacctcTttctttccatcaccatcaaa							TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr16:56544773_56544774CTT>C	uc002ejd.2	-	3	765_766	c.531_532AAG>G	c.(529-534)aaagagfs	p.K177fs	BBS2_uc010ccg.2_Frame_Shift_Del_p.K177fs	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Homo sapiens Bardet-Biedl syndrome 2 (BBS2), mRNA.	177					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						CCACATACCTCTTTCTTTCCAT	0.426									Bardet-Biedl syndrome				-	56544775	TT	-	56544774	7	5	123	1	0	1	0	1	0	0	0	0	1338	1606	56	0	1690	0	BBS2	16	56544774	Frame_Shift_Del	DEL	TT	TCGA-BR-A4J4-01A-12D-A25D-08	53210749	56544774	33809979	72	75278											
CNGB1	1258	broad.mit.edu	37	chr16	57931809	57931809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgatgtacatctcacggcCgatctccccctgaaacaaag	8	13	2	2			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr16:57931809C>T	uc002emt.2	-	30	3051	c.2986G>A	c.(2986-2988)GGC>AGC	p.G996S	CNGB1_uc010cdh.2_Missense_Mutation_p.G990S	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	996	Cytoplasmic (Potential).|cAMP (By similarity).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						ATCTCACGGCCGATCTCCCCC	0.502													T	57931809	C	T	57931809	3	4	123	1	0	0	0	0	1	0	0	0	3600	652	23	1	785	1	CNGB1	16	57931809	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	1387035	57931809	32422944	73	75279											
PRPF8	10594	broad.mit.edu	37	chr17	1586851	1586851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaaacccttttgtcatggCggaacttcctgttggtcatg	10	9	2	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr17:1586851C>T	uc002fte.2	-	3	359	c.245G>A	c.(244-246)CGC>CAC	p.R82H		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	82						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTTGTCATGGCGGAACTTCCT	0.473													T	1586851	C	T	1586851	3	4	123	1	0	0	0	0	1	0	0	0	12575	768	27	1	6926	1	PRPF8	17	1586851	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08		1586851	79608359	74	75280											
MYOCD	93649	broad.mit.edu	37	chr17	12656514	12656514	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccccagtgttcccctcagCattcaccgctgggggctgtg	12	16	2	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr17:12656514C>A	uc002gnn.2	+	10	2208	c.1909C>A	c.(1909-1911)CAT>AAT	p.H637N	MYOCD_uc002gno.2_Missense_Mutation_p.H637N|MYOCD_uc002gnp.1_Missense_Mutation_p.H541N|MYOCD_uc002gnq.2_Missense_Mutation_p.H356N	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	637					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TTCCCCTCAGCATTCACCGCT	0.547													A	12656514	C	A	12656514	3	1	123	1	0	0	0	0	1	0	0	0	10087	710	25	5	1947	5	MYOCD	17	12656514	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	11069663	12656514	68538696	75	75281											
SLC6A4	6532	broad.mit.edu	37	chr17	28537598	28537598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgagcacgaaccgctcccGgcgcttggcccagacgtgtg	15	15	0	1			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr17:28537598G>A	uc002hey.3	-	11	1928	c.1384C>T	c.(1384-1386)CGG>TGG	p.R462W	SLC6A4_uc010csg.2_RNA	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	462					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AACCGCTCCCGGCGCTTGGCC	0.597													A	28537598	G	A	28537598	3	1	123	1	0	0	0	0	1	0	0	0	14686	1115	39	1	528	1	SLC6A4	17	28537598	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	15881084	28537598	52657612	76	75282											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	123	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-BR-A4J4-01A-12D-A25D-08	27848786	56386384	24808826	77	75283											
TBX4	9496	broad.mit.edu	37	chr17	59557598	59557598	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacggggcacactcacagctCgcggagccgcaggacctgcc	13	16	1	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr17:59557598C>T	uc002izi.2	+	7	984	c.939C>T	c.(937-939)CTC>CTT	p.L313L	TBX4_uc010ddo.2_Silent_p.L313L|TBX4_uc010woy.1_Silent_p.L313L	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	313					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						ACTCACAGCTCGCGGAGCCGC	0.647													T	59557598	C	T	59557598	2	4	123	1	0	0	0	0	0	0	0	1	15657	871	31	1		1	TBX4	17	59557598	Silent	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	3171214	59557598	21637612	78	75284											
DAPK3	1613	broad.mit.edu	37	chr19	3959148	3959148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctcctgctccagggcgCgcacgaggtcctgcacgaag	13	15	1	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr19:3959148C>T	uc002lzc.1	-	8	1409	c.1316G>A	c.(1315-1317)CGC>CAC	p.R439H	DAPK3_uc002lzb.1_Missense_Mutation_p.R176H|DAPK3_uc002lzd.1_Missense_Mutation_p.R439H	NM_001348	NP_001339	O43293	DAPK3_HUMAN	death-associated protein kinase 3	439	Interaction with CDC5L (By similarity).				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAGGGCGCGCACGAGGTC	0.711													T	3959148	C	T	3959148	3	4	123	1	0	0	0	0	1	0	0	0	4237	768	27	1	52	1	DAPK3	19	3959148	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08		3959148	55169835	79	75285											
KIAA1543	57662	broad.mit.edu	37	chr19	7682912	7682912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggcaagaaacccaccaCtcccaagaagggcggcggca	13	14	0	2			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr19:7682912C>T	uc002mgv.3	+	17	3820	c.3719C>T	c.(3718-3720)ACT>ATT	p.T1240I	KIAA1543_uc002mgu.3_Missense_Mutation_p.T1267I|KIAA1543_uc002mgw.2_Missense_Mutation_p.T370I	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	1240	CKK.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						AAACCCACCACTCCCAAGAAG	0.672													T	7682912	C	T	7682912	3	4	123	1	0	0	0	0	1	0	0	0	8243	565	20	4	3874	4	KIAA1543	19	7682912	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	3723764	7682912	51446071	80	75286											
LPHN1	22859	broad.mit.edu	37	chr19	14262032	14262032	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggccgtgcagctctccgactCgtccagatcgctctggtaca	11	15	2	1			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr19:14262032C>G	uc010xnn.1	-	24	4374	c.4078G>C	c.(4078-4080)GAG>CAG	p.E1360Q	LPHN1_uc010xno.1_Missense_Mutation_p.E1355Q|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	1360	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						CTCTCCGACTCGTCCAGATCG	0.692													G	14262032	C	G	14262032	3	3	123	1	0	0	0	0	1	0	0	0	8915	893	31	5	350	5	LPHN1	19	14262032	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	6579120	14262032	44866951	81	75287											
OCEL1	79629	broad.mit.edu	37	chr19	17337947	17337947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcctgggcgccaagaagCctattggagccatccctaag	10	15	0	1			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr19:17337947C>T	uc002nfp.2	+	3	393	c.391C>T	c.(391-393)CCT>TCT	p.P131S		NM_024578	NP_078854	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	131										central_nervous_system(1)	1						CGCCAAGAAGCCTATTGGAGC	0.597													T	17337947	C	T	17337947	3	4	123	1	0	0	0	0	1	0	0	0	10816	739	26	2	401	2	OCEL1	19	17337947	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	3075915	17337947	41791036	82	75288											
ZNF160	90338	broad.mit.edu	37	chr19	53572897	53572897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaatagttagatttgaaCgaacagtaaaggttttgccg	11	4	0	3	rs145414197		TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr19:53572897C>T	uc010eqk.2	-	7	1306	c.890G>A	c.(889-891)CGT>CAT	p.R297H	ZNF160_uc002qaq.3_Missense_Mutation_p.R297H|ZNF160_uc002qar.3_Missense_Mutation_p.R297H	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	297	C2H2-type 2.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(134;0.02)		TAGATTTGAACGAACAGTAAA	0.413													T	53572897	C	T	53572897	3	4	123	1	0	0	0	0	1	0	0	0	17736	536	19	1	1570	1	ZNF160	19	53572897	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	36234950	53572897	5556086	83	75289											
PROKR2	128674	broad.mit.edu	37	chr20	5294853	5294853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagtgcaatgccaatgaCgatcttggctgcgaagaagg	13	9	1	2	rs146963803	by1000genomes	TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr20:5294853C>T	uc010zqw.1	-	1	163	c.163G>A	c.(163-165)GTC>ATC	p.V55I	PROKR2_uc010zqx.1_Missense_Mutation_p.V55I|PROKR2_uc010zqy.1_Missense_Mutation_p.V55I|uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	55	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5						ATGCCAATGACGATCTTGGCT	0.517										HNSCC(71;0.22)			T	5294853	C	T	5294853	3	4	123	1	0	0	0	0	1	0	0	0	12553	536	19	1	998	1	PROKR2	20	5294853	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08		5294853	57730667	84	75290											
CHD6	84181	broad.mit.edu	37	chr20	40033670	40033670	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcatggctactcggcttgtCttccgcagtcttttcagtca	8	12	5	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr20:40033670C>T	uc002xka.1	-	37	7889	c.7711G>A	c.(7711-7713)GAC>AAC	p.D2571N	CHD6_uc002xjz.1_Missense_Mutation_p.D108N	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2571					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				CTCGGCTTGTCTTCCGCAGTC	0.507													T	40033670	C	T	40033670	3	4	123	1	0	0	0	0	1	0	0	0	3329	913	32	4	440	4	CHD6	20	40033670	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	34738817	40033670	22991850	85	75291											
TAF4	6874	broad.mit.edu	37	chr20	60581663	60581663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggtcacggtggccgccGtcttcccggccgtgcgctgg	15	16	2	0			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr20:60581663G>A	uc002ybs.2	-	7	2126	c.2126C>T	c.(2125-2127)ACG>ATG	p.T709M		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	709					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GGTGGCCGCCGTCTTCCCGGC	0.721													A	60581663	G	A	60581663	3	1	123	1	0	0	0	0	1	0	0	0	15523	1145	40	1	1167	1	TAF4	20	60581663	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08	20547993	60581663	2443857	86	75292											
SS18L1	26039	broad.mit.edu	37	chr20	60749663	60749663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagcaccgcagacagcgcCgtctgcccagcagcagcggc	13	18	1	1			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr20:60749663C>T	uc002ycb.2	+	10	1182	c.1127C>T	c.(1126-1128)CCG>CTG	p.P376L	SS18L1_uc011aaa.1_Missense_Mutation_p.P376L|SS18L1_uc002ybz.1_RNA|SS18L1_uc002yca.1_RNA|SS18L1_uc002ycc.1_RNA	NM_198935	NP_945173	O75177	CREST_HUMAN	SS18-like protein 1	376	Gln-rich.|SH3-binding (Potential).|Necessary for nuclear localization (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore				ovary(2)	2	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CAGACAGCGCCGTCTGCCCAG	0.617			T	SSX1	synovial sarcoma								T	60749663	C	T	60749663	3	4	123	1	0	0	0	0	1	0	0	0	15175	652	23	1	1165	1	SS18L1	20	60749663	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	168000	60749663	2275857	87	75293											
TIMP3	7078	broad.mit.edu	37	chr22	33253288	33253288	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagtacatccatacggaagCttccgagagtctctgtggcc	11	12	1	1			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr22:33253288C>A	uc003anb.2	+	3	1443	c.257C>A	c.(256-258)GCT>GAT	p.A86D	SYN3_uc003amx.2_Intron|SYN3_uc003amy.2_Intron|SYN3_uc003amz.2_Intron	NM_000362	NP_000353	P35625	TIMP3_HUMAN	tissue inhibitor of metalloproteinase 3	86	NTR.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			lung(1)	1						CATACGGAAGCTTCCGAGAGT	0.512													A	33253288	C	A	33253288	3	1	123	1	0	0	0	0	1	0	0	0	15916	797	28	5	267	5	TIMP3	22	33253288	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08		33253288	18051278	88	75294											
WWC3	55841	broad.mit.edu	37	chrX	10058819	10058819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttaactaggattgatcGgaagatgtcaagtactcaca	9	6	2	2			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chrX:10058819G>A	uc004csx.3	+	6	584	c.386G>A	c.(385-387)CGG>CAG	p.R129Q	WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	129										ovary(4)	4						AGGATTGATCGGAAGATGTCA	0.428													A	10058819	G	A	10058819	3	1	123	1	0	0	0	0	1	0	0	0	17410	1116	39	1	404	1	WWC3	23	10058819	Missense_Mutation	SNP	G	TCGA-BR-A4J4-01A-12D-A25D-08		10058819	145211741	89	75295											
MUM1L1	139221	broad.mit.edu	37	chrX	105450563	105450563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagacgaagaacttccaCgcttcattttacattatgag	8	8	1	3			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chrX:105450563C>T	uc004emf.1	+	4	1787	c.1138C>T	c.(1138-1140)CGC>TGC	p.R380C	MUM1L1_uc004emg.1_Missense_Mutation_p.R380C	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	380										ovary(2)|pancreas(1)|skin(1)	4						AGAACTTCCACGCTTCATTTT	0.373													T	105450563	C	T	105450563	3	4	123	1	0	0	0	0	1	0	0	0	9986	536	19	1	1140	1	MUM1L1	23	105450563	Missense_Mutation	SNP	C	TCGA-BR-A4J4-01A-12D-A25D-08	95391744	105450563	49819997	90	75296											
TMEM201	199953	broad.mit.edu	37	chr1	9661192	9661192	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccgccgtgaagtccccggtCcaggtcatcctgctccgtgc	11	17	1	1			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr1:9661192C>T	uc001apz.2	+	5	648	c.636C>T	c.(634-636)GTC>GTT	p.V212V	TMEM201_uc001apy.2_Silent_p.V212V	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	transmembrane protein 201 isoform 1	212						integral to membrane|nuclear inner membrane					0	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		AGTCCCCGGTCCAGGTCATCC	0.657													T	9661192	C	T	9661192	2	4	124	1	0	0	0	0	0	0	0	1	16123	842	30	4		4	TMEM201	1	9661192	Silent	SNP	C	TCGA-BR-A4J6-01A-11D-A25D-08		9661192	239589429	1	75297											
UBR4	23352	broad.mit.edu	37	chr1	19513771	19513771	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccataatgctcaaggctgCaggggggccatctgtctccc	13	13	3	0			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr1:19513771C>A	uc001bbi.2	-	13	1523	c.1519G>T	c.(1519-1521)GCA>TCA	p.A507S		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	507					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTCAAGGCTGCAGGGGGGCCA	0.478													A	19513771	C	A	19513771	3	1	124	1	0	0	0	0	1	0	0	0	16901	710	25	5	14408	5	UBR4	1	19513771	Missense_Mutation	SNP	C	TCGA-BR-A4J6-01A-11D-A25D-08	9852579	19513771	229736850	2	75298											
SH2D5	400745	broad.mit.edu	37	chr1	21048371	21048371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgcctgggggcccacagtCctgctcctcgtaggtggggt	15	14	0	0			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr1:21048371C>T	uc001bdt.1	-	9	1559	c.934G>A	c.(934-936)GAC>AAC	p.D312N	SH2D5_uc009vpy.1_Missense_Mutation_p.D396N|SH2D5_uc001bdu.1_RNA	NM_001103160	NP_001096630	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5 isoform 2	312											0		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCCCACAGTCCTGCTCCTCG	0.687													T	21048371	C	T	21048371	3	4	124	1	0	0	0	0	1	0	0	0	14237	855	30	4	89	4	SH2D5	1	21048371	Missense_Mutation	SNP	C	TCGA-BR-A4J6-01A-11D-A25D-08	1534600	21048371	228202250	3	75299											
PAPPA2	60676	broad.mit.edu	37	chr1	176659380	176659380	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatgtctttaaaggagtcAgtgaaagagaatcctgcaat	9	7	2	2			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr1:176659380A>G	uc001gkz.2	+	5	3409	c.2245A>G	c.(2245-2247)AGT>GGT	p.S749G	PAPPA2_uc001gky.1_Missense_Mutation_p.S749G|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	749	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						TAAAGGAGTCAGTGAAAGAGA	0.542													G	176659380	A	G	176659380	3	3	124	1	0	0	0	0	1	0	0	0	11433	188	7	3	2259	3	PAPPA2	1	176659380	Missense_Mutation	SNP	A	TCGA-BR-A4J6-01A-11D-A25D-08	155611009	176659380	72591241	4	75300											
DNAJC5G	285126	broad.mit.edu	37	chr2	27499657	27499657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagatgagcctctatgcaGtgctggatcttaagaagggc	14	7	2	3			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr2:27499657G>A	uc002rjl.1	+	3	479	c.61G>A	c.(61-63)GTG>ATG	p.V21M	SLC30A3_uc010ylh.1_5'Flank|DNAJC5G_uc010yli.1_Missense_Mutation_p.V21M|DNAJC5G_uc002rjm.1_Missense_Mutation_p.V21M	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	21	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			skin(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCTATGCAGTGCTGGATCT	0.483													A	27499657	G	A	27499657	3	1	124	1	0	0	0	0	1	0	0	0	4652	1029	36	4	63	4	DNAJC5G	2	27499657	Missense_Mutation	SNP	G	TCGA-BR-A4J6-01A-11D-A25D-08		27499657	215699716	5	75301											
FAM128A	653784	broad.mit.edu	37	chr2	132249846	132249846	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgtacagctccatctcctcgGtgctcagcaccttcttgcgc	8	17	3	0			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr2:132249846G>C	uc002tsw.3	-	1	219	c.104C>G	c.(103-105)ACC>AGC	p.T35S	LOC150776_uc010zax.1_5'Flank|LOC150776_uc010zay.1_5'Flank|LOC150776_uc010zaz.1_5'Flank|LOC150776_uc010fna.2_5'Flank|LOC150776_uc002tsy.3_5'Flank|FAM128A_uc002tsv.3_5'Flank|FAM128A_uc002tsx.1_5'Flank	NM_001085365	NP_001078834	Q6P582	MZT2A_HUMAN	hypothetical protein LOC653784	35						centrosome|gamma-tubulin ring complex|spindle					0				BRCA - Breast invasive adenocarcinoma(221;0.13)		CATCTCCTCGGTGCTCAGCAC	0.557													C	132249846	G	C	132249846	3	2	124	1	0	0	0	0	1	0	0	0	5434	1261	44	5	384	5	FAM128A	2	132249846	Missense_Mutation	SNP	G	TCGA-BR-A4J6-01A-11D-A25D-08	104750189	132249846	110949527	6	75302											
MMADHC	27249	broad.mit.edu	37	chr2	150426628	150426628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaacagagaatcctaaatGtcggtagcgttcatcagttt	8	8	3	1			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr2:150426628G>A	uc002txb.2	-	7	1256	c.751C>T	c.(751-753)CAT>TAT	p.H251Y	MMADHC_uc002txc.2_Missense_Mutation_p.H251Y|MMADHC_uc010fnu.2_Missense_Mutation_p.H285Y	NM_015702	NP_056517	Q9H3L0	MMAD_HUMAN	methylmalonic aciduria (cobalamin deficiency)	251						mitochondrion				central_nervous_system(1)|skin(1)	2						AATCCTAAATGTCGGTAGCGT	0.368													A	150426628	G	A	150426628	3	1	124	1	0	0	0	0	1	0	0	0	9642	1377	48	4	143	4	MMADHC	2	150426628	Missense_Mutation	SNP	G	TCGA-BR-A4J6-01A-11D-A25D-08	18176782	150426628	92772745	7	75303											
TTN	7273	broad.mit.edu	37	chr2	179452394	179452394	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttttctgaccacattAtcaatgccaacttttcgcca	4	13	2	1			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr2:179452394A>G	uc010zfg.1	-	255	56162	c.55938T>C	c.(55936-55938)GAT>GAC	p.D18646D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.D12341D|TTN_uc010zfi.1_Silent_p.D12274D|TTN_uc010zfj.1_Silent_p.D12149D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19573							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACCACATTATCAATGCCAA	0.458													G	179452394	A	G	179452394	2	3	124	1	0	0	0	0	0	0	0	1	16732	446	16	3		3	TTN	2	179452394	Silent	SNP	A	TCGA-BR-A4J6-01A-11D-A25D-08	29025766	179452394	63746979	8	75304											
CTNNB1	1499	broad.mit.edu	37	chr3	41266103	41266103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagtcttacctggactctGgaatccattctggtgccact	8	12	3	0	rs121913399		TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr3:41266103G>A	uc010hia.1	+	4	256	c.100G>A	c.(100-102)GGA>AGA	p.G34R	CTNNB1_uc003ckp.2_Missense_Mutation_p.G34R|CTNNB1_uc003ckq.2_Missense_Mutation_p.G34R|CTNNB1_uc003ckr.2_Missense_Mutation_p.G34R|CTNNB1_uc011azf.1_Missense_Mutation_p.G27R|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	34			G -> E (in PTR).|G -> R (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.G34V(64)|p.G34E(64)|p.A5_A80del(63)|p.G34R(60)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(4)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32_S47del(2)|p.W25_H36del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S29_H36del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.W25_I35del(1)|p.V22_G80>NNNNN(1)|p.GIHS34?(1)|p.A5_I35del(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.V22_T102del(1)|p.S33_G34del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.G34_S37del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.D32_H36>D(1)|p.S33_G34insGTS(1)|p.P16_K133del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.V22_Y64del(1)|p.M8_A80del(1)|p.S33_S37del(1)|p.E9_I140del(1)|p.S33_G34insS(1)|p.Y30_T40del(1)|p.S33_G34insGI(1)|p.M1_T42del(1)|p.A5_Q143>E(1)|p.A5_Q72del(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.S23_I35del(1)|p.V22_S71>A(1)|p.W25_A80del(1)|p.A20_Q72del(1)|p.A20_S111del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CCTGGACTCTGGAATCCATTC	0.488		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				A	41266103	G	A	41266103	3	1	124	1	0	0	0	0	1	0	0	0	4016	1349	47	4	106	4	CTNNB1	3	41266103	Missense_Mutation	SNP	G	TCGA-BR-A4J6-01A-11D-A25D-08		41266103	156756327	9	75305											
HYAL2	8692	broad.mit.edu	37	chr3	50357457	50357457	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gactggccactagctggcgtGataaccggcgatacacatct	11	12	1	1			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr3:50357457G>T	uc003czu.2	-	2	684	c.464C>A	c.(463-465)TCA>TAA	p.S155*	HYAL2_uc003czx.2_Nonsense_Mutation_p.S155*|HYAL2_uc003czv.2_Nonsense_Mutation_p.S155*|HYAL2_uc003czw.2_Nonsense_Mutation_p.S155*|HYAL2_uc010hlj.2_Nonsense_Mutation_p.S155*	NM_033158	NP_149348	Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2 precursor	155						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	TAGCTGGCGTGATAACCGGCG	0.587													T	50357457	G	T	50357457	4	4	124	1	0	0	0	0	0	1	0	0	7464	1294	45	5	969	5	HYAL2	3	50357457	Nonsense_Mutation	SNP	G	TCGA-BR-A4J6-01A-11D-A25D-08	9091354	50357457	147664973	10	75306											
KIAA1524	57650	broad.mit.edu	37	chr3	108298210	108298210	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttctagttagagtgccatCaccgtttatgagaatattaa	7	7	2	2			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr3:108298210C>T	uc003dxb.3	-	7	1005	c.736G>A	c.(736-738)GAT>AAT	p.D246N	KIAA1524_uc003dxc.1_Missense_Mutation_p.D87N|KIAA1524_uc010hpw.1_Missense_Mutation_p.D87N	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	246						cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3						AGAGTGCCATCACCGTTTATG	0.338													T	108298210	C	T	108298210	3	4	124	1	0	0	0	0	1	0	0	0	8239	826	29	4	2041	4	KIAA1524	3	108298210	Missense_Mutation	SNP	C	TCGA-BR-A4J6-01A-11D-A25D-08	57940753	108298210	89724220	11	75307											
ATR	545	broad.mit.edu	37	chr3	142268402	142268402	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatatatttgaagttgttTattaaaatctctctacgatt	4	4	2	1			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr3:142268402T>G	uc003eux.3	-	15	3212	c.3090A>C	c.(3088-3090)ATA>ATC	p.I1030I		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1030					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						TGAAGTTGTTTATTAAAATCT	0.333								Other_conserved_DNA_damage_response_genes					G	142268402	T	G	142268402	2	3	124	1	0	0	0	0	0	0	0	1	1204	1744	61	5		5	ATR	3	142268402	Silent	SNP	T	TCGA-BR-A4J6-01A-11D-A25D-08	33970192	142268402	55754028	12	75308											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139907772	139907772	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttttcccttaggggTggcacagaatcaacaagata	8	7	1	2			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr5:139907772T>G	uc003lfs.1	+	29	5365	c.5241T>G	c.(5239-5241)GGT>GGG	p.G1747G	ANKHD1_uc003lfr.2_Silent_p.G1747G|ANKHD1-EIF4EBP3_uc011czh.1_Silent_p.G486G|ANKHD1_uc003lfw.2_Silent_p.G385G|ANKHD1_uc010jfl.2_Silent_p.G182G|ANKHD1-EIF4EBP3_uc003lfx.1_5'UTR	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1747						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTTAGGGGTGGCACAGAAT	0.274													G	139907772	T	G	139907772	2	3	124	1	0	0	0	0	0	0	0	1	629	1683	59	5		5	ANKHD1-EIF4EBP3	5	139907772	Silent	SNP	T	TCGA-BR-A4J6-01A-11D-A25D-08		139907772	41007488	13	75309											
FAM65B	9750	broad.mit.edu	37	chr6	24861261	24861261	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctccacttcaatggtgcacaTattctgcaaagaggacagga	9	10	2	1			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr6:24861261T>A	uc003neo.1	-	8	744	c.568A>T	c.(568-570)ATG>TTG	p.M190L	FAM65B_uc011djs.1_Missense_Mutation_p.M219L|FAM65B_uc011dju.1_Missense_Mutation_p.M224L|FAM65B_uc003nep.2_Missense_Mutation_p.M190L|FAM65B_uc011djt.1_Missense_Mutation_p.M190L	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1	190					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1						ATGGTGCACATATTCTGCAAA	0.458													A	24861261	T	A	24861261	3	1	124	1	0	0	0	0	1	0	0	0	5600	1406	49	5	2712	5	FAM65B	6	24861261	Missense_Mutation	SNP	T	TCGA-BR-A4J6-01A-11D-A25D-08		24861261	146253806	14	75310											
FYN	2534	broad.mit.edu	37	chr6	112035642	112035642	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taaagggccacaaagagtgtCactcctgccgaaacgaaatt	9	10	1	1			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr6:112035642C>T	uc003pvj.2	-	4	592	c.252G>A	c.(250-252)GTG>GTA	p.V84V	FYN_uc003pvi.2_Silent_p.V84V|FYN_uc003pvk.2_Silent_p.V84V|FYN_uc003pvh.2_Silent_p.V84V	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	84	SH3.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|central_nervous_system(1)|skin(1)	7		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	CAAAGAGTGTCACTCCTGCCG	0.363													T	112035642	C	T	112035642	2	4	124	1	0	0	0	0	0	0	0	1	6126	813	29	4		4	FYN	6	112035642	Silent	SNP	C	TCGA-BR-A4J6-01A-11D-A25D-08	87174381	112035642	59079425	15	75311											
SLC22A3	6581	broad.mit.edu	37	chr6	160829854	160829855	+	Frame_Shift_Ins	INS	-	-	A													caaatgttctttacccttggINSaatcataattctccctggaa							TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr6:160829854_160829855insA	uc003qti.2	+	4	785_786	c.758_759insA	c.(757-759)GGAfs	p.G253fs	SLC22A3_uc011efx.1_RNA	NM_021977	NP_068812	O75751	S22A3_HUMAN	solute carrier family 22 member 3	253	Helical; (Potential).					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TTTACCCTTGGAATCATAATTC	0.431													A	160829855	-	A	160829854	7	5	124	1	0	1	1	0	0	0	0	0	14455	1174	41	0	772	0	SLC22A3	6	160829854	Frame_Shift_Ins	INS	-	TCGA-BR-A4J6-01A-11D-A25D-08	48794212	160829854	10285213	16	75312	339	2									
SLC22A3	6581	broad.mit.edu	37	chr6	160829855	160829856	+	Frame_Shift_Ins	INS	-	-	A													aaatgttctttacccttggaINSatcataattctccctggaat							TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr6:160829854_160829855G>GA	uc003qti.3	+	3	785_786	c.758_759G>GA	c.(757-759)ggafs	p.G253fs	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	253						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TTTACCCTTGGAATCATAATTC	0.431													A	160829856	-	A	160829855	7	5	124	1	0	1	1	0	0	0	0	0	14455	233	9	0	773	0	SLC22A3	6	160829855	Frame_Shift_Ins	INS	-	TCGA-BR-A4J6-01A-11D-A25D-08	1	160829855	10285212	17	75313	339	2									
CLIP2	7461	broad.mit.edu	37	chr7	73790500	73790501	+	In_Frame_Ins	INS	-	-	AGG													gccaacgagaagtacgcacaINSggaggtggcgggcctgaagg							TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr7:73790499_73790500C>CAGG	uc003uam.3	+	9	2095_2096	c.1768_1769C>CAGG	c.(1768-1770)cag>CAGGg	p.Q590Q	CLIP2_uc003uan.3_In_Frame_Ins_p.Q555Q|CLIP2_uc003uao.3_5'UTR	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	590						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GAAGTACGCACAGGAGGTGGCG	0.619													AGG	73790501	-	AGG	73790500	7	5	124	1	0	1	1	0	0	0	0	0	3533	188	7	0	1803	0	CLIP2	7	73790500	In_Frame_Ins	INS	-	TCGA-BR-A4J6-01A-11D-A25D-08		73790500	85348163	18	75314											
FAM131B	9715	broad.mit.edu	37	chr7	143056064	143056064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcatgtgggccacccggcCttgccccatggctgtgggct	13	14	1	0			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr7:143056064C>T	uc003wct.2	-	4	1944	c.238G>A	c.(238-240)GGC>AGC	p.G80S	FAM131B_uc010loz.2_Missense_Mutation_p.G48S|FAM131B_uc003wcu.3_Missense_Mutation_p.G80S|FAM131B_uc010lpa.2_Missense_Mutation_p.G108S|ZYX_uc011ktd.1_5'Flank	NM_014690	NP_055505	Q86XD5	F131B_HUMAN	hypothetical protein LOC9715 isoform b	80											0	Melanoma(164;0.205)					GCCACCCGGCCTTGCCCCATG	0.572													T	143056064	C	T	143056064	3	4	124	1	0	0	0	0	1	0	0	0	5440	681	24	4	772	4	FAM131B	7	143056064	Missense_Mutation	SNP	C	TCGA-BR-A4J6-01A-11D-A25D-08	69265564	143056064	16082599	19	75315											
MAMDC2	256691	broad.mit.edu	37	chr9	72758553	72758553	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccctccctaccaggaaacTtgcagtattgtctgcgtttt	9	12	1	0			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr9:72758553T>C	uc004ahm.2	+	9	1839	c.1222T>C	c.(1222-1224)TTG>CTG	p.L408L	MAMDC2_uc004ahn.2_RNA	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	MAM domain containing 2 precursor	408	MAM 3.					endoplasmic reticulum|membrane				central_nervous_system(1)|pancreas(1)	2						ACCAGGAAACTTGCAGTATTG	0.428													C	72758553	T	C	72758553	2	2	124	1	0	0	0	0	0	0	0	1	9203	1606	56	3		3	MAMDC2	9	72758553	Silent	SNP	T	TCGA-BR-A4J6-01A-11D-A25D-08		72758553	68454878	20	75316											
KIF27	55582	broad.mit.edu	37	chr9	86514643	86514643	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgttttcctgtaccatcAtctgcacttgattcttcagt	5	11	4	1			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr9:86514643A>C	uc004ana.2	-	5	1679	c.1535T>G	c.(1534-1536)ATG>AGG	p.M512R	KIF27_uc010mpw.2_Missense_Mutation_p.M512R|KIF27_uc010mpx.2_Missense_Mutation_p.M512R	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	512	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						CTGTACCATCATCTGCACTTG	0.408													C	86514643	A	C	86514643	3	2	124	1	0	0	0	0	1	0	0	0	8296	217	8	5	2726	5	KIF27	9	86514643	Missense_Mutation	SNP	A	TCGA-BR-A4J6-01A-11D-A25D-08	13756090	86514643	54698788	21	75317											
OR13D1	286365	broad.mit.edu	37	chr9	107457321	107457321	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgtgggaataatgtcattGatcatattacctgtgaaatt	8	5	3	2			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr9:107457321G>T	uc011lvs.1	+	1	619	c.619G>T	c.(619-621)GAT>TAT	p.D207Y		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D,	207	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TAATGTCATTGATCATATTAC	0.398													T	107457321	G	T	107457321	3	4	124	1	0	0	0	0	1	0	0	0	10940	1290	45	5	621	5	OR13D1	9	107457321	Missense_Mutation	SNP	G	TCGA-BR-A4J6-01A-11D-A25D-08	20942678	107457321	33756110	22	75318											
SPTAN1	6709	broad.mit.edu	37	chr9	131329027	131329027	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcatttcagaaaatggaccCaagtggggtcaaagtgctgg	13	7	3	1			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr9:131329027C>A	uc004bvl.3	+	2	121	c.8C>A	c.(7-9)CCA>CAA	p.P3Q	SPTAN1_uc011mbg.1_Missense_Mutation_p.P3Q|SPTAN1_uc011mbh.1_Missense_Mutation_p.P15Q|SPTAN1_uc004bvm.3_Missense_Mutation_p.P3Q|SPTAN1_uc004bvn.3_Missense_Mutation_p.P3Q	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	3					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						AAAATGGACCCAAGTGGGGTC	0.453													A	131329027	C	A	131329027	3	1	124	1	0	0	0	0	1	0	0	0	15116	594	21	5	10	5	SPTAN1	9	131329027	Missense_Mutation	SNP	C	TCGA-BR-A4J6-01A-11D-A25D-08	23871706	131329027	9884404	23	75319											
VPS11	55823	broad.mit.edu	37	chr11	118944008	118944008	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cctatagcaccgtctttgagGatgtagtggatgtgcttgct	12	8	1	1			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr11:118944008G>T	uc010ryx.1	+	7	1027	c.985G>T	c.(985-987)GAT>TAT	p.D329Y	VPS11_uc010ryy.1_Missense_Mutation_p.D175Y	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	329					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CGTCTTTGAGGATGTAGTGGA	0.532													T	118944008	G	T	118944008	3	4	124	1	0	0	0	0	1	0	0	0	17185	1174	41	5	1006	5	VPS11	11	118944008	Missense_Mutation	SNP	G	TCGA-BR-A4J6-01A-11D-A25D-08		118944008	16062508	24	75320											
ARID2	196528	broad.mit.edu	37	chr12	46245720	46245720	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatggagaacccgtcctgcCgacgaggagccacaaacacc	10	15	1	1			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr12:46245720C>T	uc001ros.1	+	15	3814	c.3814C>T	c.(3814-3816)CGA>TGA	p.R1272*	ARID2_uc001ror.2_Nonsense_Mutation_p.R1272*|ARID2_uc009zkg.1_Nonsense_Mutation_p.R728*|ARID2_uc009zkh.1_Nonsense_Mutation_p.R899*|ARID2_uc001rou.1_Nonsense_Mutation_p.R606*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1272					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCCGTCCTGCCGACGAGGAGC	0.428													T	46245720	C	T	46245720	4	4	124	1	0	0	0	0	0	1	0	0	915	644	23	1	3872	1	ARID2	12	46245720	Nonsense_Mutation	SNP	C	TCGA-BR-A4J6-01A-11D-A25D-08		46245720	87606175	25	75321											
TEP1	7011	broad.mit.edu	37	chr14	20849537	20849537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggtgcctgaggcatcagCgtcacatgtcttccagagct	12	11	3	2			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr14:20849537C>T	uc001vxe.2	-	32	4622	c.4582G>A	c.(4582-4584)GCT>ACT	p.A1528T	TEP1_uc010ahk.2_Missense_Mutation_p.A871T|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.A1420T|TEP1_uc010tlh.1_5'UTR	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1528					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GAGGCATCAGCGTCACATGTC	0.552													T	20849537	C	T	20849537	3	4	124	1	0	0	0	0	1	0	0	0	15756	768	27	1	3397	1	TEP1	14	20849537	Missense_Mutation	SNP	C	TCGA-BR-A4J6-01A-11D-A25D-08		20849537	86500003	26	75322											
XRCC3	7517	broad.mit.edu	37	chr14	104165276	104165276	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcctcttcctcgcggagCcggtcagccagcagtctcac	11	17	3	0			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr14:104165276C>T	uc001yny.3	-	10	1280	c.900G>A	c.(898-900)CGG>CGA	p.R300R	KLC1_uc010tyf.1_Intron|KLC1_uc001yno.2_Intron|KLC1_uc001yns.2_Intron|XRCC3_uc001ynx.3_Silent_p.R300R|XRCC3_uc001ynz.3_Silent_p.R300R|XRCC3_uc001yoa.3_Silent_p.R300R	NM_005432	NP_005423	O43542	XRCC3_HUMAN	X-ray repair cross complementing protein 3	300					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		CCTCGCGGAGCCGGTCAGCCA	0.647								Direct_reversal_of_damage|Homologous_recombination					T	104165276	C	T	104165276	2	4	124	1	0	0	0	0	0	0	0	1	17451	726	26	2		2	XRCC3	14	104165276	Silent	SNP	C	TCGA-BR-A4J6-01A-11D-A25D-08	83315739	104165276	3184264	27	75323											
ZNF592	9640	broad.mit.edu	37	chr15	85327029	85327029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaccagcaattcccaaaGtgagaatcaaaaccattaag	5	13	1	1			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr15:85327029G>A	uc002bld.2	+	4	1459	c.1123G>A	c.(1123-1125)GTG>ATG	p.V375M	ZNF592_uc010upb.1_RNA	NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	375					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(2)	6			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AATTCCCAAAGTGAGAATCAA	0.517													A	85327029	G	A	85327029	3	1	124	1	0	0	0	0	1	0	0	0	18019	1029	36	4	1125	4	ZNF592	15	85327029	Missense_Mutation	SNP	G	TCGA-BR-A4J6-01A-11D-A25D-08		85327029	17204363	28	75324											
CHST6	4166	broad.mit.edu	37	chr16	75513350	75513350	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggcgagcacagtgcacggCtcacggcccactggaagagg	16	12	1	1			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr16:75513350C>A	uc002fef.2	-	3	557	c.377G>T	c.(376-378)AGC>ATC	p.S126I	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.S126I	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	126	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						CAGTGCACGGCTCACGGCCCA	0.667													A	75513350	C	A	75513350	3	1	124	1	0	0	0	0	1	0	0	0	3408	797	28	5	814	5	CHST6	16	75513350	Missense_Mutation	SNP	C	TCGA-BR-A4J6-01A-11D-A25D-08		75513350	14841403	29	75325											
KIAA0513	9764	broad.mit.edu	37	chr16	85120758	85120758	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagcaggctgtgattgGcaacctggatgaaggtgcgt	16	6	0	3			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr16:85120758G>C	uc002fiu.2	+	12	1392	c.1172G>C	c.(1171-1173)GGC>GCC	p.G391A	KIAA0513_uc010voj.1_Missense_Mutation_p.G381A	NM_014732	NP_055547	O60268	K0513_HUMAN	hypothetical protein LOC9764	391						cytoplasm				breast(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.234)		GCTGTGATTGGCAACCTGGAT	0.602											OREG0023994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	85120758	G	C	85120758	3	2	124	1	0	0	0	0	1	0	0	0	8181	1203	42	5	1214	5	KIAA0513	16	85120758	Missense_Mutation	SNP	G	TCGA-BR-A4J6-01A-11D-A25D-08	9607408	85120758	5233995	30	75326											
SLC13A2	9058	broad.mit.edu	37	chr17	26823469	26823469	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccactgcctcccactccaggCccaggccatctgcctccacc	6	23	1	0			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr17:26823469C>A	uc002hbh.2	+	11	1539	c.1472C>A	c.(1471-1473)GCC>GAC	p.A491D	SLC13A2_uc010wam.1_Missense_Mutation_p.A447D|SLC13A2_uc010wan.1_Missense_Mutation_p.A540D|SLC13A2_uc010wao.1_Missense_Mutation_p.A448D|SLC13A2_uc002hbi.2_Missense_Mutation_p.A420D	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	491	Helical; (Potential).					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCACTCCAGGCCCAGGCCATC	0.647													A	26823469	C	A	26823469	3	1	124	1	0	0	0	0	1	0	0	0	14392	753	26	5	1661	5	SLC13A2	17	26823469	Missense_Mutation	SNP	C	TCGA-BR-A4J6-01A-11D-A25D-08		26823469	54371741	31	75327											
CCDC40	55036	broad.mit.edu	37	chr17	78013901	78013901	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaactgcctggagaggaggcAtacgatagtgttagcgggga	17	6	0	1			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr17:78013901A>G	uc010dht.2	+	3	411	c.384A>G	c.(382-384)GCA>GCG	p.A128A	CCDC40_uc010wub.1_Silent_p.A128A	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	128					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAGAGGAGGCATACGATAGTG	0.542													G	78013901	A	G	78013901	2	3	124	1	0	0	0	0	0	0	0	1	2812	204	8	3		3	CCDC40	17	78013901	Silent	SNP	A	TCGA-BR-A4J6-01A-11D-A25D-08	51190432	78013901	3181309	32	75328											
COLEC12	81035	broad.mit.edu	37	chr18	331713	331713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacttccattcattttcaCgctctgagtctgtgaggccg	9	13	4	2			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr18:331713C>T	uc002kkm.2	-	8	2233	c.2018G>A	c.(2017-2019)CGT>CAT	p.R673H		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	673	Extracellular (Potential).|C-type lectin.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TTCATTTTCACGCTCTGAGTC	0.473													T	331713	C	T	331713	3	4	124	1	0	0	0	0	1	0	0	0	3712	536	19	1	222	1	COLEC12	18	331713	Missense_Mutation	SNP	C	TCGA-BR-A4J6-01A-11D-A25D-08		331713	77745535	33	75329											
SMAD4	4089	broad.mit.edu	37	chr18	48593406	48593406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggttgcacataggcaaagGtgtgcagttggaatgtaaag	14	4	0	0	rs121912580		TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr18:48593406G>A	uc010xdp.1	+	10	1695	c.1157G>A	c.(1156-1158)GGT>GAT	p.G386D	SMAD4_uc002lfb.3_Missense_Mutation_p.G231D	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	386	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.G386R(5)|p.?(2)|p.G386C(1)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ATAGGCAAAGGTGTGCAGTTG	0.368									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				A	48593406	G	A	48593406	3	1	124	1	0	0	0	0	1	0	0	0	14760	1261	44	4	1191	4	SMAD4	18	48593406	Missense_Mutation	SNP	G	TCGA-BR-A4J6-01A-11D-A25D-08	48261693	48593406	29483842	34	75330											
SALL3	27164	broad.mit.edu	37	chr18	76753965	76753965	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctagactcgatgcaaacGtcggaaacctcgaagctgca	10	12	0	1			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr18:76753965G>A	uc002lmt.2	+	2	1974	c.1974G>A	c.(1972-1974)ACG>ACA	p.T658T	SALL3_uc010dra.2_Silent_p.T265T	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	658					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGATGCAAACGTCGGAAACCT	0.642													A	76753965	G	A	76753965	2	1	124	1	0	0	0	0	0	0	0	1	13812	1132	40	1		1	SALL3	18	76753965	Silent	SNP	G	TCGA-BR-A4J6-01A-11D-A25D-08	28160559	76753965	1323283	35	75331											
STK11	6794	broad.mit.edu	37	chr19	1221993	1221993	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaggttctccatccggcagaTccggcagcacaggtgagcgg	15	12	1	2			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr19:1221993T>A	uc002lrl.1	+	7	2023	c.908T>A	c.(907-909)ATC>AAC	p.I303N		NM_000455	NP_000446	Q15831	STK11_HUMAN	serine/threonine protein kinase 11	303	Protein kinase.		IRQH -> N (in PJS).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(19)		lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCGGCAGATCCGGCAGCAC	0.692		14	D|Mis|N|F|S		NSCLC|pancreatic	jejunal harmartoma|ovarian|testicular|pancreatic			Peutz-Jeghers_syndrome	TSP Lung(3;<1E-08)			A	1221993	T	A	1221993	3	1	124	1	0	0	0	0	1	0	0	0	15286	1435	50	5	934	5	STK11	19	1221993	Missense_Mutation	SNP	T	TCGA-BR-A4J6-01A-11D-A25D-08		1221993	57906990	36	75332											
MUC16	94025	broad.mit.edu	37	chr19	9089662	9089662	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatgctggtgcttatcttgGtgtgtcctgcagagtctggt	14	7	2	1			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr19:9089662G>T	uc002mkp.2	-	1	2357	c.2153C>A	c.(2152-2154)ACC>AAC	p.T718N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	718	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GCTTATCTTGGTGTGTCCTGC	0.498													T	9089662	G	T	9089662	3	4	124	1	0	0	0	0	1	0	0	0	9973	1261	44	5	41706	5	MUC16	19	9089662	Missense_Mutation	SNP	G	TCGA-BR-A4J6-01A-11D-A25D-08	7867669	9089662	50039321	37	75333											
CD22	933	broad.mit.edu	37	chr19	35828734	35828734	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactctgtgaccatgacctgCgaggtcagcagcagcaaccc	11	14	2	2	rs146504496	byFrequency	TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr19:35828734C>T	uc010edt.2	+	5	872	c.795C>T	c.(793-795)TGC>TGT	p.C265C	CD22_uc010xst.1_Silent_p.C93C|CD22_uc010edu.2_Silent_p.C265C|CD22_uc010edv.2_Silent_p.C265C|CD22_uc002nzb.3_Intron|CD22_uc010edx.2_RNA	NM_001771	NP_001762	P20273	CD22_HUMAN	CD22 molecule precursor	265	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion		protein binding|sugar binding			ovary(5)|lung(3)|breast(1)	9	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CCATGACCTGCGAGGTCAGCA	0.582													T	35828734	C	T	35828734	2	4	124	1	0	0	0	0	0	0	0	1	2985	776	27	1		1	CD22	19	35828734	Silent	SNP	C	TCGA-BR-A4J6-01A-11D-A25D-08	26739072	35828734	23300249	38	75334											
RBM42	79171	broad.mit.edu	37	chr19	36120513	36120513	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacggtccccacagtagaaGcgatgcaggtcccagcggct	12	15	0	1			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chr19:36120513G>T	uc002oan.2	+	2	296	c.220G>T	c.(220-222)GCG>TCG	p.A74S	RBM42_uc010xsx.1_Missense_Mutation_p.A74S|RBM42_uc010eef.2_Missense_Mutation_p.A74S|RBM42_uc002oao.2_Missense_Mutation_p.A74S|RBM42_uc002oap.2_Missense_Mutation_p.A74S|RBM42_uc002oaq.2_Missense_Mutation_p.A74S|RBM42_uc010eeg.2_Missense_Mutation_p.A74S	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	74						cytoplasm|nucleus	nucleotide binding|RNA binding				0	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CACAGTAGAAGCGATGCAGGT	0.587													T	36120513	G	T	36120513	3	4	124	1	0	0	0	0	1	0	0	0	13136	971	34	5	226	5	RBM42	19	36120513	Missense_Mutation	SNP	G	TCGA-BR-A4J6-01A-11D-A25D-08	291779	36120513	23008470	39	75335											
USP51	158880	broad.mit.edu	37	chrX	55513296	55513296	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacccttcactgtagagtaAgtcctcaatggtagccttgg	9	10	2	1			TCGA-BR-A4J6-01A-11D-A25D-08	TCGA-BR-A4J6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf42f08-5348-4fdf-916f-690fa42dbf1a	d60221e2-c5fc-4d88-aa85-5b46712ce4c8	g.chrX:55513296A>G	uc004dun.1	-	2	2156	c.2077T>C	c.(2077-2079)TTA>CTA	p.L693L	USP51_uc011moo.1_Silent_p.L397L	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	693					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						CTGTAGAGTAAGTCCTCAATG	0.423													G	55513296	A	G	55513296	2	3	124	1	0	0	0	0	0	0	0	1	17080	69	3	3		3	USP51	23	55513296	Silent	SNP	A	TCGA-BR-A4J6-01A-11D-A25D-08		55513296	99757264	40	75336											
DLGAP3	58512	broad.mit.edu	37	chr1	35365313	35365313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagccagggatggagctcCgggggtggatccggggtggg	22	7	0	0			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr1:35365313C>T	uc001byc.2	-	3	1343	c.1343G>A	c.(1342-1344)CGG>CAG	p.R448Q		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	448					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				GATGGAGCTCCGGGGGTGGAT	0.582													T	35365313	C	T	35365313	3	4	125	1	0	0	0	0	1	0	0	0	4561	652	23	1	1628	1	DLGAP3	1	35365313	Missense_Mutation	SNP	C	TCGA-BR-A4J7-01A-31D-A25D-08		35365313	213885308	1	75337											
GLIS1	148979	broad.mit.edu	37	chr1	53980408	53980408	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgcgctgggggcaggagGcccgatgcaagtccgttatg	17	10	0	0			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr1:53980408G>A	uc001cvr.1	-	7	1815	c.1248C>T	c.(1246-1248)GGC>GGT	p.G416G		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	416					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			skin(1)	1						GGGGCAGGAGGCCCGATGCAA	0.612													A	53980408	G	A	53980408	2	1	125	1	0	0	0	0	0	0	0	1	6445	1190	42	2		2	GLIS1	1	53980408	Silent	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08	18615095	53980408	195270213	2	75338											
LRRC7	57554	broad.mit.edu	37	chr1	70509665	70509665	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacaaacacaatacagttaAccttggcatgctgccctatg	6	11	0	0			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr1:70509665A>G	uc001dep.2	+	20	3914	c.3884A>G	c.(3883-3885)AAC>AGC	p.N1295S	LRRC7_uc009wbg.2_Missense_Mutation_p.N579S|LRRC7_uc001deq.2_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1295						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						AATACAGTTAACCTTGGCATG	0.388													G	70509665	A	G	70509665	3	3	125	1	0	0	0	0	1	0	0	0	9020	43	2	3	3962	3	LRRC7	1	70509665	Missense_Mutation	SNP	A	TCGA-BR-A4J7-01A-31D-A25D-08	16529257	70509665	178740956	3	75339											
COL11A1	1301	broad.mit.edu	37	chr1	103385904	103385904	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caactgaaccaacagaccctGggggtccttgtggtccctgc	11	14	0	2			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr1:103385904G>T	uc001dul.2	-	49	4043	c.3725C>A	c.(3724-3726)CCA>CAA	p.P1242Q	COL11A1_uc001duk.2_Missense_Mutation_p.P438Q|COL11A1_uc001dum.2_Missense_Mutation_p.P1254Q|COL11A1_uc001dun.2_Missense_Mutation_p.P1203Q|COL11A1_uc009weh.2_Missense_Mutation_p.P1126Q	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1242	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AACAGACCCTGGGGGTCCTTG	0.358													T	103385904	G	T	103385904	3	4	125	1	0	0	0	0	1	0	0	0	3667	1348	47	5	1771	5	COL11A1	1	103385904	Missense_Mutation	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08	32876239	103385904	145864717	4	75340											
ATP8B2	57198	broad.mit.edu	37	chr1	154317185	154317185	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcacctatcaggacaagcTttcttcttccaagctaactt	4	13	4	0			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr1:154317185T>G	uc001fex.2	+	21	2309	c.2309T>G	c.(2308-2310)CTT>CGT	p.L770R		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	756	Cytoplasmic (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGGACAAGCTTTCTTCTTCC	0.537											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	154317185	T	G	154317185	3	3	125	1	0	0	0	0	1	0	0	0	1195	1609	56	5	2521	5	ATP8B2	1	154317185	Missense_Mutation	SNP	T	TCGA-BR-A4J7-01A-31D-A25D-08	50931281	154317185	94933436	5	75341											
XPR1	9213	broad.mit.edu	37	chr1	180794410	180794410	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttgccctttatggatttaTggttttcttccttatcaacc	5	10	2	0			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr1:180794410T>A	uc001goi.2	+	9	1256	c.1064T>A	c.(1063-1065)ATG>AAG	p.M355K	XPR1_uc009wxm.2_Missense_Mutation_p.M355K|XPR1_uc009wxn.2_Missense_Mutation_p.M355K	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor	355	Helical; (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0						TATGGATTTATGGTTTTCTTC	0.428													A	180794410	T	A	180794410	3	1	125	1	0	0	0	0	1	0	0	0	17448	1464	51	5	1098	5	XPR1	1	180794410	Missense_Mutation	SNP	T	TCGA-BR-A4J7-01A-31D-A25D-08	26477225	180794410	68456211	6	75342											
MYOG	4656	broad.mit.edu	37	chr1	203054915	203054915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcactggcctggacagtgctCgggggtccccagccccttgt	14	15	0	0			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr1:203054915C>T	uc001gzd.2	-	1	463	c.175G>A	c.(175-177)GAG>AAG	p.E59K		NM_002479	NP_002470	P15173	MYOG_HUMAN	myogenin	59					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			skin(2)	2						GGACAGTGCTCGGGGGTCCCC	0.697													T	203054915	C	T	203054915	3	4	125	1	0	0	0	0	1	0	0	0	10090	893	31	1	511	1	MYOG	1	203054915	Missense_Mutation	SNP	C	TCGA-BR-A4J7-01A-31D-A25D-08	22260505	203054915	46195706	7	75343											
TPO	7173	broad.mit.edu	37	chr2	1488526	1488526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccatgccacgatccacccGctggtgaggaggctggacgc	15	14	0	1			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr2:1488526G>A	uc002qww.2	+	9	1588	c.1497G>A	c.(1495-1497)CCG>CCA	p.P499P	TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Silent_p.P499P|TPO_uc002qwr.2_Silent_p.P499P|TPO_uc002qwx.2_Silent_p.P499P|TPO_uc010yio.1_Silent_p.P326P|TPO_uc010yip.1_Silent_p.P499P|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	499	Extracellular (Potential).		P -> L (in TDH2A).		cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGATCCACCCGCTGGTGAGGA	0.637													A	1488526	G	A	1488526	2	1	125	1	0	0	0	0	0	0	0	1	16407	1074	38	1		1	TPO	2	1488526	Silent	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08		1488526	241710847	8	75344											
KCNS3	3790	broad.mit.edu	37	chr2	18112991	18112991	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcaccggggagcttgccgTccggctggctgccgctcctt	14	15	1	0			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr2:18112991T>C	uc002rcv.2	+	3	1167	c.716T>C	c.(715-717)GTC>GCC	p.V239A	KCNS3_uc002rcw.2_Missense_Mutation_p.V239A	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	239	Helical; Name=Segment S2; (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAGCTTGCCGTCCGGCTGGCT	0.517													C	18112991	T	C	18112991	3	2	125	1	0	0	0	0	1	0	0	0	8090	1667	58	3	718	3	KCNS3	2	18112991	Missense_Mutation	SNP	T	TCGA-BR-A4J7-01A-31D-A25D-08	16624465	18112991	225086382	9	75345											
SCN9A	6335	broad.mit.edu	37	chr2	167141099	167141099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcattttcccgttcaccGgcagcattggtggggaccta	12	11	1	0			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr2:167141099G>A	uc010fpl.2	-	12	2179	c.1838C>T	c.(1837-1839)CCG>CTG	p.P613L	uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.P484L|SCN9A_uc002uds.1_Missense_Mutation_p.P484L|SCN9A_uc002udt.1_Missense_Mutation_p.P484L	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	613						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCCGTTCACCGGCAGCATTGG	0.587													A	167141099	G	A	167141099	3	1	125	1	0	0	0	0	1	0	0	0	13925	1116	39	1	4159	1	SCN9A	2	167141099	Missense_Mutation	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08	149028108	167141099	76058274	10	75346											
PLCL1	5334	broad.mit.edu	37	chr2	198949991	198949991	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agcaaatccgactctgtaggGagctctctgatttggtgtct	11	9	3	1			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr2:198949991G>C	uc010fsp.2	+	2	2041	c.1750G>C	c.(1750-1752)GAG>CAG	p.E584Q	PLCL1_uc002uuv.3_Missense_Mutation_p.E505Q	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	584					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	ACTCTGTAGGGAGCTCTCTGA	0.383													C	198949991	G	C	198949991	3	2	125	1	0	0	0	0	1	0	0	0	12039	1175	41	5	1756	5	PLCL1	2	198949991	Missense_Mutation	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08	31808892	198949991	44249382	11	75347											
COL6A3	1293	broad.mit.edu	37	chr2	238268749	238268749	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctttactcctctctggccCgggcagccctggaaaccttg	9	16	1	0			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr2:238268749C>T	uc002vwl.2	-	17	6549	c.6264G>A	c.(6262-6264)CCG>CCA	p.P2088P	COL6A3_uc002vwo.2_Silent_p.P1882P|COL6A3_uc010znj.1_Silent_p.P1481P	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2088	Triple-helical region.|Collagen-like 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCTCTGGCCCGGGCAGCCCT	0.607													T	238268749	C	T	238268749	2	4	125	1	0	0	0	0	0	0	0	1	3701	639	23	1		1	COL6A3	2	238268749	Silent	SNP	C	TCGA-BR-A4J7-01A-31D-A25D-08	39318758	238268749	4930624	12	75348											
DLEC1	9940	broad.mit.edu	37	chr3	38139256	38139256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgccctcatcatcaacGtctcagcccttcagtttggt	8	15	5	0			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr3:38139256G>A	uc003cho.1	+	18	2608	c.2587G>A	c.(2587-2589)GTC>ATC	p.V863I	DLEC1_uc003chp.1_Missense_Mutation_p.V863I|DLEC1_uc010hgv.1_Missense_Mutation_p.V863I|DLEC1_uc003chr.1_Intron|DLEC1_uc010hgx.1_RNA	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	863					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CATCATCAACGTCTCAGCCCT	0.632													A	38139256	G	A	38139256	3	1	125	1	0	0	0	0	1	0	0	0	4552	1145	40	1	2657	1	DLEC1	3	38139256	Missense_Mutation	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08		38139256	159883174	13	75349											
SAMD7	344658	broad.mit.edu	37	chr3	169646274	169646274	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactggttacaattggggggAatctttctttggatgaagat	12	5	2	2			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr3:169646274A>G	uc003fgd.2	+	7	1216	c.949A>G	c.(949-951)AAT>GAT	p.N317D	SAMD7_uc003fge.2_Missense_Mutation_p.N317D|SAMD7_uc011bpo.1_Missense_Mutation_p.N218D	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	317										skin(1)	1	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AATTGGGGGGAATCTTTCTTT	0.383													G	169646274	A	G	169646274	3	3	125	1	0	0	0	0	1	0	0	0	13824	246	9	3	967	3	SAMD7	3	169646274	Missense_Mutation	SNP	A	TCGA-BR-A4J7-01A-31D-A25D-08	131507018	169646274	28376156	14	75350											
CCDC110	256309	broad.mit.edu	37	chr4	186380606	186380606	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaggacagtgtgtatcTtggaactctggaatggaatt	14	4	2	0			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr4:186380606T>C	uc003ixu.3	-	6	1211	c.1135A>G	c.(1135-1137)AGA>GGA	p.R379G	CCDC110_uc003ixv.3_Missense_Mutation_p.R342G|CCDC110_uc011ckt.1_Missense_Mutation_p.R379G	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	379						nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AGTGTGTATCTTGGAACTCTG	0.328													C	186380606	T	C	186380606	3	2	125	1	0	0	0	0	1	0	0	0	2747	1617	56	3	1374	3	CCDC110	4	186380606	Missense_Mutation	SNP	T	TCGA-BR-A4J7-01A-31D-A25D-08		186380606	4773670	15	75351											
BACH2	60468	broad.mit.edu	37	chr6	90718472	90718472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagagaatatcctttttcCgctggtcattgaggcccagg	10	11	1	2			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr6:90718472C>T	uc011eab.1	-	6	901	c.92G>A	c.(91-93)CGG>CAG	p.R31Q	BACH2_uc003pnw.2_Missense_Mutation_p.R31Q|BACH2_uc010kch.2_Missense_Mutation_p.R31Q	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	31						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ATCCTTTTTCCGCTGGTCATT	0.542													T	90718472	C	T	90718472	3	4	125	1	0	0	0	0	1	0	0	0	1284	652	23	1	2449	1	BACH2	6	90718472	Missense_Mutation	SNP	C	TCGA-BR-A4J7-01A-31D-A25D-08		90718472	80396595	16	75352											
SYNE1	23345	broad.mit.edu	37	chr6	152542605	152542605	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggtaagagtttctgtcacGggtgggtgacactcttttaa	12	6	3	2	rs141170182	byFrequency	TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr6:152542605G>T	uc010kiw.2	-	118	22214	c.21612C>A	c.(21610-21612)CCC>CCA	p.P7204P	SYNE1_uc010kiv.2_Silent_p.P1728P|SYNE1_uc003qos.3_Silent_p.P1728P|SYNE1_uc003qot.3_Silent_p.P7133P|SYNE1_uc003qou.3_Silent_p.P7204P|SYNE1_uc003qor.3_Silent_p.P104P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7204	Cytoplasmic (Potential).|Spectrin 23.				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)		TTTCTGTCACGGGTGGGTGAC	0.363										HNSCC(10;0.0054)			T	152542605	G	T	152542605	2	4	125	1	0	0	0	0	0	0	0	1	15442	1103	39	5		5	SYNE1	6	152542605	Silent	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08	61824133	152542605	18572462	17	75353											
TAGAP	117289	broad.mit.edu	37	chr6	159456921	159456921	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaccggctggctacatcGtcgcacgagacagtcccgct	11	14	0	2			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr6:159456921G>A	uc003qrz.2	-	10	2466	c.2134C>T	c.(2134-2136)CGA>TGA	p.R712*	TAGAP_uc011eft.1_Nonsense_Mutation_p.R649*|TAGAP_uc003qsa.2_Nonsense_Mutation_p.R534*	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN	T-cell activation Rho GTPase-activating protein	712					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGGCTACATCGTCGCACGAGA	0.567													A	159456921	G	A	159456921	4	1	125	1	0	0	0	0	0	1	0	0	15534	1153	40	1	65	1	TAGAP	6	159456921	Nonsense_Mutation	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08	6914316	159456921	11658146	18	75354											
NPSR1	387129	broad.mit.edu	37	chr7	34867067	34867067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcctgtcttttctgttctCcattcccaccctgatcatat	5	14	4	1			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr7:34867067C>T	uc003teg.1	+	5	661	c.533C>T	c.(532-534)TCC>TTC	p.S178F	AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.S178F|NPSR1_uc010kwt.1_Missense_Mutation_p.S25F|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.S112F|NPSR1_uc003tei.1_Missense_Mutation_p.S178F|NPSR1_uc010kww.1_Missense_Mutation_p.S167F|NPSR1_uc011kar.1_Missense_Mutation_p.S112F|AAA1_uc010kwy.2_Intron|AAA1_uc003tek.3_Intron	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	178	Helical; Name=4; (Potential).					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)	TTTCTGTTCTCCATTCCCACC	0.522													T	34867067	C	T	34867067	3	4	125	1	0	0	0	0	1	0	0	0	10600	855	30	4	551	4	NPSR1	7	34867067	Missense_Mutation	SNP	C	TCGA-BR-A4J7-01A-31D-A25D-08		34867067	124271596	19	75355											
STEAP4	79689	broad.mit.edu	37	chr7	87913437	87913437	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtggtcttctgggggtttcGacttccaaaaacaacagaat	11	8	2	1			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr7:87913437G>A	uc003ujs.2	-	2	253	c.148C>T	c.(148-150)CGA>TGA	p.R50*	STEAP4_uc010lek.2_Nonsense_Mutation_p.R50*|STEAP4_uc003ujt.2_Nonsense_Mutation_p.R50*	NM_024636	NP_078912	Q687X5	STEA4_HUMAN	tumor necrosis factor, alpha-induced protein 9	50					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	Esophageal squamous(14;0.00802)					TGGGGGTTTCGACTTCCAAAA	0.438													A	87913437	G	A	87913437	4	1	125	1	0	0	0	0	0	1	0	0	15279	1066	37	1	1247	1	STEAP4	7	87913437	Nonsense_Mutation	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08	53046370	87913437	71225226	20	75356											
CPSF4	10898	broad.mit.edu	37	chr7	99054060	99054060	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgctgttcccagtgtggCgagaaaggacactacgccaa	11	12	0	1			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr7:99054060C>T	uc003uqj.2	+	8	890	c.747C>T	c.(745-747)GGC>GGT	p.G249G	PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Silent_p.G224G|CPSF4_uc003uqk.2_Silent_p.G223G|CPSF4_uc011kix.1_Silent_p.G171G	NM_006693	NP_006684	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4,	249	CCHC-type.				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCCAGTGTGGCGAGAAAGGAC	0.557													T	99054060	C	T	99054060	2	4	125	1	0	0	0	0	0	0	0	1	3828	755	27	1		1	CPSF4	7	99054060	Silent	SNP	C	TCGA-BR-A4J7-01A-31D-A25D-08	11140623	99054060	60084603	21	75357											
SNAI2	6591	broad.mit.edu	37	chr8	49832989	49832989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaactctcatagagatacgGggaaataatcactgggaaag	11	6	2	1	rs11544360		TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr8:49832989G>A	uc003xqp.2	-	2	255	c.91C>T	c.(91-93)CCG>TCG	p.P31S		NM_003068	NP_003059	O43623	SNAI2_HUMAN	snail 2	31					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TAGAGATACGGGGAAATAATC	0.438													A	49832989	G	A	49832989	3	1	125	1	0	0	0	0	1	0	0	0	14827	1232	43	4	723	4	SNAI2	8	49832989	Missense_Mutation	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08		49832989	96531033	22	75358											
KCNB2	9312	broad.mit.edu	37	chr8	73850023	73850023	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgaaatagatactggtgaCgacgaagacttcttagagct	10	7	1	5	rs150484780		TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr8:73850023C>T	uc003xzb.2	+	3	3021	c.2433C>T	c.(2431-2433)GAC>GAT	p.D811D		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	811	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			ATACTGGTGACGACGAAGACT	0.522													T	73850023	C	T	73850023	2	4	125	1	0	0	0	0	0	0	0	1	8013	535	19	1		1	KCNB2	8	73850023	Silent	SNP	C	TCGA-BR-A4J7-01A-31D-A25D-08	24017034	73850023	72513999	23	75359											
KIAA1429	25962	broad.mit.edu	37	chr8	95500939	95500939	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccaaaaggatttttatcGtgtaaaggagcgtacatgac	9	7	0	1			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr8:95500939G>A	uc003ygo.1	-	24	5447	c.5434C>T	c.(5434-5436)CGA>TGA	p.R1812*	KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	1812					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GATTTTTATCGTGTAAAGGAG	0.418													A	95500939	G	A	95500939	4	1	125	1	0	0	0	0	0	1	0	0	8231	1153	40	1	8	1	KIAA1429	8	95500939	Nonsense_Mutation	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08	21650916	95500939	50863083	24	75360											
GDF6	392255	broad.mit.edu	37	chr8	97172648	97172648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtactcgtggggcaccacGcgcggacccctgcctggcgg	15	15	0	0			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr8:97172648G>A	uc003yhp.2	-	1	373	c.273C>T	c.(271-273)CGC>CGT	p.R91R		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	91					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					GGGGCACCACGCGCGGACCCC	0.657													A	97172648	G	A	97172648	2	1	125	1	0	0	0	0	0	0	0	1	6317	1074	38	1		1	GDF6	8	97172648	Silent	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08	1671709	97172648	49191374	25	75361											
WDR67	93594	broad.mit.edu	37	chr8	124096483	124096483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgcatcagggaaatatgCcatcacaacttcttctgata	7	10	4	1	rs139812181		TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr8:124096483C>T	uc003ypp.1	+	4	512	c.422C>T	c.(421-423)GCC>GTC	p.A141V	WDR67_uc011lig.1_Missense_Mutation_p.A141V|WDR67_uc011lih.1_Missense_Mutation_p.A31V|WDR67_uc003ypq.1_RNA|WDR67_uc003ypo.1_Missense_Mutation_p.A141V	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	141	WD 2.					centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GGGAAATATGCCATCACAACT	0.408													T	124096483	C	T	124096483	3	4	125	1	0	0	0	0	1	0	0	0	17315	739	26	2	436	2	WDR67	8	124096483	Missense_Mutation	SNP	C	TCGA-BR-A4J7-01A-31D-A25D-08	26923835	124096483	22267539	26	75362											
PLEC	5339	broad.mit.edu	37	chr8	144993544	144993544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccacgtccacaggcacgCggtggctgtgcacggggtcg	17	13	0	0			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr8:144993544C>T	uc003zaf.1	-	32	11026	c.10856G>A	c.(10855-10857)CGC>CAC	p.R3619H	PLEC_uc003zab.1_Missense_Mutation_p.R3482H|PLEC_uc003zac.1_Missense_Mutation_p.R3486H|PLEC_uc003zad.2_Missense_Mutation_p.R3482H|PLEC_uc003zae.1_Missense_Mutation_p.R3450H|PLEC_uc003zag.1_Missense_Mutation_p.R3460H|PLEC_uc003zah.2_Missense_Mutation_p.R3468H|PLEC_uc003zaj.2_Missense_Mutation_p.R3509H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3619	Globular 2.|Plectin 15.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CACAGGCACGCGGTGGCTGTG	0.677													T	144993544	C	T	144993544	3	4	125	1	0	0	0	0	1	0	0	0	12052	768	27	1	3202	1	PLEC	8	144993544	Missense_Mutation	SNP	C	TCGA-BR-A4J7-01A-31D-A25D-08	20897061	144993544	1370478	27	75363											
PTPRD	5789	broad.mit.edu	37	chr9	8521482	8521482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacacaggtgatattaacGcttccgcctggcatgatttc	9	12	0	2			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr9:8521482G>A	uc003zkk.2	-	19	1467	c.756C>T	c.(754-756)AGC>AGT	p.S252S	PTPRD_uc003zkp.2_Silent_p.S252S|PTPRD_uc003zkq.2_Silent_p.S252S|PTPRD_uc003zkr.2_Silent_p.S246S|PTPRD_uc003zks.2_Silent_p.S242S|PTPRD_uc003zkl.2_Silent_p.S252S|PTPRD_uc003zkm.2_Silent_p.S239S|PTPRD_uc003zkn.2_Silent_p.S252S|PTPRD_uc003zko.2_Silent_p.S249S	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	252	Extracellular (Potential).|Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGATATTAACGCTTCCGCCTG	0.463										TSP Lung(15;0.13)			A	8521482	G	A	8521482	2	1	125	1	0	0	0	0	0	0	0	1	12799	1078	38	1		1	PTPRD	9	8521482	Silent	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08		8521482	132691949	28	75364											
NOTCH1	4851	broad.mit.edu	37	chr9	139391716	139391716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctttgctgctgggcttgcGgaccttcttgccctgcacgc	12	15	1	0			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr9:139391716G>A	uc004chz.2	-	34	6475	c.6475C>T	c.(6475-6477)CGC>TGC	p.R2159C		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2159	Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGGGCTTGCGGACCTTCTTG	0.697			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			A	139391716	G	A	139391716	3	1	125	1	0	0	0	0	1	0	0	0	10547	1116	39	1	1196	1	NOTCH1	9	139391716	Missense_Mutation	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08	130870234	139391716	1821715	29	75365											
FBXO18	84893	broad.mit.edu	37	chr10	5978466	5978466	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaacgtcttaaaaacaggCgtggtgcgctgctgcgtggg	15	9	1	0			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr10:5978466C>T	uc001iis.2	+	20	2972	c.2877C>T	c.(2875-2877)GGC>GGT	p.G959G	FBXO18_uc001iir.2_Silent_p.G902G|FBXO18_uc009xig.2_Silent_p.G885G|FBXO18_uc001iit.2_Silent_p.G1010G	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	959					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						TAAAAACAGGCGTGGTGCGCT	0.522													T	5978466	C	T	5978466	2	4	125	1	0	0	0	0	0	0	0	1	5731	755	27	1		1	FBXO18	10	5978466	Silent	SNP	C	TCGA-BR-A4J7-01A-31D-A25D-08		5978466	129556281	30	75366											
PSTK	118672	broad.mit.edu	37	chr10	124742959	124742959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacaacagcctcacaattcCgagtccagcatgtgcttcgg	8	14	1	0			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr10:124742959C>T	uc001lgy.1	+	3	1120	c.680C>T	c.(679-681)CCG>CTG	p.P227L		NM_153336	NP_699167	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	227							ATP binding|kinase activity			liver(1)	1		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		CTCACAATTCCGAGTCCAGCA	0.443													T	124742959	C	T	124742959	3	4	125	1	0	0	0	0	1	0	0	0	12720	652	23	1	690	1	PSTK	10	124742959	Missense_Mutation	SNP	C	TCGA-BR-A4J7-01A-31D-A25D-08	118764493	124742959	10791788	31	75367											
FAM196A	642938	broad.mit.edu	37	chr10	128974037	128974037	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgagtggagttttggagcGcagcttctccatagctgagc	14	10	1	1			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr10:128974037G>T	uc001lju.1	-	1	664	c.623C>A	c.(622-624)GCG>GAG	p.A208E	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.A208E|FAM196A_uc001ljv.1_Missense_Mutation_p.A208E|FAM196A_uc009yap.1_Missense_Mutation_p.A208E	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	208										ovary(2)	2						GTTTTGGAGCGCAGCTTCTCC	0.607													T	128974037	G	T	128974037	3	4	125	1	0	0	0	0	1	0	0	0	5528	1087	38	5	828	5	FAM196A	10	128974037	Missense_Mutation	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08	4231078	128974037	6560710	32	75368											
ATM	472	broad.mit.edu	37	chr11	108235869	108235869	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgaaagctttgtatttaCagcagaggccggaagatgaa	11	6	0	4			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr11:108235869C>T	uc001pkb.1	+	62	9296	c.8911C>T	c.(8911-8913)CAG>TAG	p.Q2971*	ATM_uc009yxr.1_Nonsense_Mutation_p.Q2971*|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Nonsense_Mutation_p.Q1623*	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2971					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTTGTATTTACAGCAGAGGCC	0.398			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			T	108235869	C	T	108235869	4	4	125	1	0	0	0	0	0	1	0	0	1109	479	17	4	9153	4	ATM	11	108235869	Nonsense_Mutation	SNP	C	TCGA-BR-A4J7-01A-31D-A25D-08		108235869	26770647	33	75369											
C11orf57	55216	broad.mit.edu	37	chr11	111951135	111951135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgctttctcttttagccGgatgcgcagtgatggttttg	11	8	2	1	rs141894421		TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr11:111951135G>A	uc001pmr.3	+	4	854	c.173G>A	c.(172-174)CGG>CAG	p.R58Q	C11orf57_uc001pmu.2_Missense_Mutation_p.R58Q|C11orf57_uc001pmw.3_Missense_Mutation_p.R58Q|C11orf57_uc001pmt.3_Missense_Mutation_p.R58Q|C11orf57_uc001pmv.3_Missense_Mutation_p.R58Q|C11orf57_uc001pms.3_Missense_Mutation_p.R29Q	NM_001082970	NP_001076439	Q6ZUT1	CK057_HUMAN	hypothetical protein LOC55216 isoform b	58										breast(2)|ovary(1)	3		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		TCTTTTAGCCGGATGCGCAGT	0.388													A	111951135	G	A	111951135	3	1	125	1	0	0	0	0	1	0	0	0	1650	1116	39	1	183	1	C11orf57	11	111951135	Missense_Mutation	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08	3715266	111951135	23055381	34	75370											
CADM1	23705	broad.mit.edu	37	chr11	115049385	115049385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatgtctggcaaaatagcGccccagaatgatgagcaagc	10	9	1	3			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr11:115049385G>A	uc001ppi.3	-	9	1318	c.1189C>T	c.(1189-1191)CGC>TGC	p.R397C	CADM1_uc001ppf.3_Missense_Mutation_p.R369C|CADM1_uc001ppk.3_Missense_Mutation_p.R369C|CADM1_uc001ppj.3_Missense_Mutation_p.R398C|CADM1_uc001pph.3_Missense_Mutation_p.R160C	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	397	Cytoplasmic (Potential).				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			ovary(2)	2	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GCAAAATAGCGCCCCAGAATG	0.537													A	115049385	G	A	115049385	3	1	125	1	0	0	0	0	1	0	0	0	2566	1087	38	1	147	1	CADM1	11	115049385	Missense_Mutation	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08	3098250	115049385	19957131	35	75371											
USP2	9099	broad.mit.edu	37	chr11	119243689	119243689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggccagcatggggctgcGgcccaggttcctggggtcta	17	13	1	0			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr11:119243689G>A	uc001pwm.3	-	2	797	c.502C>T	c.(502-504)CGC>TGC	p.R168C	USP2_uc001pwn.3_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	168	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		ATGGGGCTGCGGCCCAGGTTC	0.632													A	119243689	G	A	119243689	3	1	125	1	0	0	0	0	1	0	0	0	17048	1116	39	1	1514	1	USP2	11	119243689	Missense_Mutation	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08	4194304	119243689	15762827	36	75372											
HNRNPA1	3178	broad.mit.edu	37	chr12	54677679	54677679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttggacccatgaagggaGgaaattttggaggcagaagc	14	5	0	2			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr12:54677679G>A	uc001sfl.2	+	9	1095	c.991G>A	c.(991-993)GGA>AGA	p.G331R	HNRNPA1_uc001sfm.2_Missense_Mutation_p.G279R|HNRNPA1_uc009zng.2_Missense_Mutation_p.G279R|HNRNPA1_uc009znh.2_Missense_Mutation_p.G279R|HNRNPA1_uc009zni.2_Missense_Mutation_p.G266R|HNRNPA1_uc001sfn.2_Missense_Mutation_p.G226R|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc009znj.1_Missense_Mutation_p.G234R	NM_031157	NP_112420	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	331	Gly-rich.|Nuclear targeting sequence (M9).				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			skin(2)|ovary(1)	3						CATGAAGGGAGGAAATTTTGG	0.423													A	54677679	G	A	54677679	3	1	125	1	0	0	0	0	1	0	0	0	7257	1001	35	4	1025	4	HNRNPA1	12	54677679	Missense_Mutation	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08		54677679	79174216	37	75373											
PLXNC1	10154	broad.mit.edu	37	chr12	94673283	94673283	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgaaaaaatcccggaaaaCgagagtgcagatgtctgtcg	11	7	1	3			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr12:94673283C>T	uc001tdc.2	+	22	3882	c.3633C>T	c.(3631-3633)AAC>AAT	p.N1211N	PLXNC1_uc010sut.1_Silent_p.N258N|PLXNC1_uc009zsv.2_Translation_Start_Site	NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	1211	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						TCCCGGAAAACGAGAGTGCAG	0.383													T	94673283	C	T	94673283	2	4	125	1	0	0	0	0	0	0	0	1	12126	535	19	1		1	PLXNC1	12	94673283	Silent	SNP	C	TCGA-BR-A4J7-01A-31D-A25D-08	39995604	94673283	39178612	38	75374											
NOS1	4842	broad.mit.edu	37	chr12	117672461	117672461	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctcgatcagggcattcacGaggtcctcgtggttgccagg	14	12	2	0			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr12:117672461G>A	uc001twm.1	-	21	3830	c.3144C>T	c.(3142-3144)CTC>CTT	p.L1048L		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1048	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGGCATTCACGAGGTCCTCGT	0.602													A	117672461	G	A	117672461	2	1	125	1	0	0	0	0	0	0	0	1	10541	1045	37	1		1	NOS1	12	117672461	Silent	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08	22999178	117672461	16179434	39	75375											
MSI1	4440	broad.mit.edu	37	chr12	120784004	120784004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgtaactgctgaccccCgagtcctggttggccgcccc	11	16	0	2			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr12:120784004C>T	uc001tye.1	-	13	1045	c.981G>A	c.(979-981)TCG>TCA	p.S327S		NM_002442	NP_002433	O43347	MSI1H_HUMAN	musashi 1	327					nervous system development	cytoplasm|nucleus	nucleotide binding			central_nervous_system(2)|breast(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCTGACCCCCGAGTCCTGGT	0.721													T	120784004	C	T	120784004	2	4	125	1	0	0	0	0	0	0	0	1	9875	639	23	1		1	MSI1	12	120784004	Silent	SNP	C	TCGA-BR-A4J7-01A-31D-A25D-08	3111543	120784004	13067891	40	75376											
ATP12A	479	broad.mit.edu	37	chr13	25275019	25275019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgatccccctcggtccaccGtgccagatgcagtcaccaaa	8	17	1	1			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr13:25275019G>A	uc001upp.2	+	13	2027	c.1840G>A	c.(1840-1842)GTG>ATG	p.V614M	ATP12A_uc010aaa.2_Missense_Mutation_p.V620M	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	614	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TCGGTCCACCGTGCCAGATGC	0.468													A	25275019	G	A	25275019	3	1	125	1	0	0	0	0	1	0	0	0	1122	1145	40	1	1908	1	ATP12A	13	25275019	Missense_Mutation	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08		25275019	89894859	41	75377											
MYO9A	4649	broad.mit.edu	37	chr15	72227788	72227788	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatagtctgctctggcgaaTcccagttctgccattccagg	10	12	3	1			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr15:72227788T>C	uc002atl.3	-	17	2889	c.2416A>G	c.(2416-2418)ATT>GTT	p.I806V	MYO9A_uc010biq.2_Missense_Mutation_p.I426V|MYO9A_uc002atn.1_Missense_Mutation_p.I787V	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	806					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						CTCTGGCGAATCCCAGTTCTG	0.383													C	72227788	T	C	72227788	3	2	125	1	0	0	0	0	1	0	0	0	10084	1435	50	3	5334	3	MYO9A	15	72227788	Missense_Mutation	SNP	T	TCGA-BR-A4J7-01A-31D-A25D-08		72227788	30303604	42	75378											
CREBBP	1387	broad.mit.edu	37	chr16	3778427	3778427	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgttgctgctgttgTtgctgctgctgttgctgctg	14	9	0	0	rs55960450	byFrequency	TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr16:3778427T>C	uc002cvv.2	-	31	6825	c.6621A>G	c.(6619-6621)CAA>CAG	p.Q2207Q	CREBBP_uc002cvw.2_Silent_p.Q2169Q	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2207	Poly-Gln.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		gctgctgttgttgctgctgct	0.423			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				C	3778427	T	C	3778427	2	2	125	1	0	0	0	0	0	0	0	1	3861	1722	60	3		3	CREBBP	16	3778427	Silent	SNP	T	TCGA-BR-A4J7-01A-31D-A25D-08		3778427	86576326	43	75379											
HYDIN	54768	broad.mit.edu	37	chr16	70841630	70841630	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagactgtgatgttgttgatCttcttgggccgcacagactc	12	9	2	4			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr16:70841630C>T	uc002ezr.2	-	86	15344	c.15216G>A	c.(15214-15216)AAG>AAA	p.K5072K	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	5073										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TGTTGTTGATCTTCTTGGGCC	0.527													T	70841630	C	T	70841630	2	4	125	1	0	0	0	0	0	0	0	1	7467	912	32	4		4	HYDIN	16	70841630	Silent	SNP	C	TCGA-BR-A4J7-01A-31D-A25D-08	67063203	70841630	19513123	44	75380											
PNMT	5409	broad.mit.edu	37	chr17	37826401	37826401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctggaccacatcaccaCgctgctgaggcctggggggc	15	15	1	1	rs111272760		TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr17:37826401C>T	uc002hsi.1	+	3	830	c.608C>T	c.(607-609)ACG>ATG	p.T203M		NM_002686	NP_002677	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	203					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			ovary(1)	1	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CACATCACCACGCTGCTGAGG	0.672													T	37826401	C	T	37826401	3	4	125	1	0	0	0	0	1	0	0	0	12159	536	19	1	618	1	PNMT	17	37826401	Missense_Mutation	SNP	C	TCGA-BR-A4J7-01A-31D-A25D-08		37826401	43368809	45	75381											
KCNH6	81033	broad.mit.edu	37	chr17	61613406	61613406	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caactccgagaaggtcttctCcatctgcgtcatgctcatcg	8	14	5	1	rs41280094	by1000genomes	TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr17:61613406C>A	uc002jay.2	+	6	1558	c.1478C>A	c.(1477-1479)TCC>TAC	p.S493Y	KCNH6_uc002jax.1_Missense_Mutation_p.S493Y|KCNH6_uc010wpl.1_Missense_Mutation_p.S370Y|KCNH6_uc010wpm.1_Missense_Mutation_p.S493Y|KCNH6_uc002jaz.1_Missense_Mutation_p.S440Y	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	493	Helical; Name=Segment S6; (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	AAGGTCTTCTCCATCTGCGTC	0.507													A	61613406	C	A	61613406	3	1	125	1	0	0	0	0	1	0	0	0	8036	855	30	5	1500	5	KCNH6	17	61613406	Missense_Mutation	SNP	C	TCGA-BR-A4J7-01A-31D-A25D-08	23787005	61613406	19581804	46	75382											
SCN4A	6329	broad.mit.edu	37	chr17	62018184	62018184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctgccctgggggaggggCgggaggccaggcagtgtctg	21	9	2	0			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr17:62018184C>T	uc002jds.1	-	24	5535	c.5458G>A	c.(5458-5460)GCC>ACC	p.A1820T		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1820					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GGGGGAGGGGCGGGAGGCCAG	0.677													T	62018184	C	T	62018184	3	4	125	1	0	0	0	0	1	0	0	0	13920	768	27	1	56	1	SCN4A	17	62018184	Missense_Mutation	SNP	C	TCGA-BR-A4J7-01A-31D-A25D-08	404778	62018184	19177026	47	75383											
SLC25A10	1468	broad.mit.edu	37	chr17	79686876	79686876	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagggcgttttccactgcGccgtggagacagcgaagctc	14	12	0	1			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr17:79686876G>T	uc002kbi.2	+	10	807	c.721G>T	c.(721-723)GCC>TCC	p.A241S	SLC25A10_uc010wut.1_Missense_Mutation_p.A396S|SLC25A10_uc010dif.2_Missense_Mutation_p.A250S|SLC25A10_uc010wuu.1_Missense_Mutation_p.A195S	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier;	241	Solcar 3.				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TTTCCACTGCGCCGTGGAGAC	0.607													T	79686876	G	T	79686876	3	4	125	1	0	0	0	0	1	0	0	0	14472	1087	38	5	759	5	SLC25A10	17	79686876	Missense_Mutation	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08	17668692	79686876	1508334	48	75384											
CXXC1	30827	broad.mit.edu	37	chr18	47812529	47812529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggacaggcctcttgcgccCtccaccctcatcccggggct	11	18	2	0			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr18:47812529C>T	uc002leq.3	-	4	1055	c.322G>A	c.(322-324)GGG>AGG	p.G108R	CXXC1_uc002lep.3_5'UTR|CXXC1_uc002ler.3_Missense_Mutation_p.G108R|CXXC1_uc010doy.2_Missense_Mutation_p.G108R|CXXC1_uc002les.2_Missense_Mutation_p.G108R	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	108					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CTCTTGCGCCCTCCACCCTCA	0.642													T	47812529	C	T	47812529	3	4	125	1	0	0	0	0	1	0	0	0	4097	681	24	4	1708	4	CXXC1	18	47812529	Missense_Mutation	SNP	C	TCGA-BR-A4J7-01A-31D-A25D-08		47812529	30264719	49	75385											
CDH7	1005	broad.mit.edu	37	chr18	63548075	63548075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaagtgactggggacctcGctttaaacgactcgcggaca	11	12	0	1			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr18:63548075G>A	uc002ljz.2	+	12	2628	c.2303G>A	c.(2302-2304)CGC>CAC	p.R768H	CDH7_uc002lkb.2_Missense_Mutation_p.R768H	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	768	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				TGGGGACCTCGCTTTAAACGA	0.433													A	63548075	G	A	63548075	3	1	125	1	0	0	0	0	1	0	0	0	3115	1087	38	1	2345	1	CDH7	18	63548075	Missense_Mutation	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08	15735546	63548075	14529173	50	75386											
MAP2K7	5609	broad.mit.edu	37	chr19	7975916	7975916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcacggtgtcatccaccgcGacgtcaagccctccaacatc	8	17	2	0			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr19:7975916G>A	uc002mit.2	+	7	792	c.727G>A	c.(727-729)GAC>AAC	p.D243N	MAP2K7_uc002miv.2_Missense_Mutation_p.D243N|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.D243N|MAP2K7_uc010dvv.2_Missense_Mutation_p.D118N	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	243	Protein kinase.	Proton acceptor (By similarity).			activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	CATCCACCGCGACGTCAAGCC	0.632													A	7975916	G	A	7975916	3	1	125	1	0	0	0	0	1	0	0	0	9242	1058	37	1	753	1	MAP2K7	19	7975916	Missense_Mutation	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08		7975916	51153067	51	75387											
ZNF480	147657	broad.mit.edu	37	chr19	52817462	52817462	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcaggcggagtggaaatgCctggaccctgcacagagggc	15	11	1	1			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr19:52817462C>T	uc010ydl.1	+	3	199	c.129C>T	c.(127-129)TGC>TGT	p.C43C	ZNF480_uc002pyv.2_Intron|ZNF480_uc010ydm.1_Silent_p.C43C|ZNF480_uc010epn.2_Intron|uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		AGTGGAAATGCCTGGACCCTG	0.498													T	52817462	C	T	52817462	2	4	125	1	0	0	0	0	0	0	0	1	17932	747	26	2		2	ZNF480	19	52817462	Silent	SNP	C	TCGA-BR-A4J7-01A-31D-A25D-08	44841546	52817462	6311521	52	75388											
PARD6B	84612	broad.mit.edu	37	chr20	49354417	49354417	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgaatttcgtcggttTtcgctggaaagatcaaaacc	11	8	1	2			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr20:49354417T>C	uc002xvo.2	+	2	333	c.90T>C	c.(88-90)TTT>TTC	p.F30F		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	PAR-6 beta	30	OPR.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			kidney(1)	1						TTCGTCGGTTTTCGCTGGAAA	0.338													C	49354417	T	C	49354417	2	2	125	1	0	0	0	0	0	0	0	1	11446	1838	64	3		3	PARD6B	20	49354417	Silent	SNP	T	TCGA-BR-A4J7-01A-31D-A25D-08		49354417	13671103	53	75389											
C20orf106	200232	broad.mit.edu	37	chr20	55100887	55100887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcctggccttcgaggcGgccaacttcactctccatta	8	16	2	0	rs1054339		TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr20:55100887G>A	uc002xxx.2	+	2	357	c.277G>A	c.(277-279)GGC>AGC	p.G93S	GCNT7_uc010zzg.1_5'UTR|C20orf107_uc010zzh.1_Intron	NM_001012971	NP_001012989	Q5JX71	CT106_HUMAN	hypothetical protein LOC200232 precursor	93	Cytoplasmic (Potential).					integral to membrane					0			Colorectal(105;0.202)			CCTTCGAGGCGGCCAACTTCA	0.398													A	55100887	G	A	55100887	3	1	125	1	0	0	0	0	1	0	0	0	2076	1116	39	1	283	1	C20orf106	20	55100887	Missense_Mutation	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08	5746470	55100887	7924633	54	75390											
KRTAP10-2	386679	broad.mit.edu	37	chr21	45971079	45971079	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggggaggaggtgcagcaaGccggctggcagctagactgc	19	9	0	1			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr21:45971079G>T	uc002zfi.1	-	1	310	c.263C>A	c.(262-264)GCT>GAT	p.A88D	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	keratin associated protein 10-2	88	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)	1						GGTGCAGCAAGCCGGCTGGCA	0.687													T	45971079	G	T	45971079	3	4	125	1	0	0	0	0	1	0	0	0	8509	971	34	5	508	5	KRTAP10-2	21	45971079	Missense_Mutation	SNP	G	TCGA-BR-A4J7-01A-31D-A25D-08		45971079	2158816	55	75391											
KRTAP10-2	386679	broad.mit.edu	37	chr21	45971206	45971206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagctcactggggtgcagaCcagggtcaggcagggggctg	18	10	2	1			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr21:45971206C>T	uc002zfi.1	-	1	183	c.136G>A	c.(136-138)GTC>ATC	p.V46I	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	keratin associated protein 10-2	46	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)	1						GGGGTGCAGACCAGGGTCAGG	0.697													T	45971206	C	T	45971206	3	4	125	1	0	0	0	0	1	0	0	0	8509	507	18	4	635	4	KRTAP10-2	21	45971206	Missense_Mutation	SNP	C	TCGA-BR-A4J7-01A-31D-A25D-08	127	45971206	2158689	56	75392											
PASD1	139135	broad.mit.edu	37	chrX	150773161	150773161	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaggaaattaaactggatTccatcatttcctacctatga	5	9	1	1			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chrX:150773161T>G	uc004fev.3	+	3	404	c.72T>G	c.(70-72)ATT>ATG	p.I24M		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	24						nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TAAACTGGATTCCATCATTTC	0.333													G	150773161	T	G	150773161	3	3	125	1	0	0	0	0	1	0	0	0	11471	1771	62	5	78	5	PASD1	23	150773161	Missense_Mutation	SNP	T	TCGA-BR-A4J7-01A-31D-A25D-08		150773161	4497399	57	75393											
GPR153	387509	broad.mit.edu	37	chr1	6314867	6314867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccacttcttctgcttggcGccaacgctgaggatgcccca	9	15	2	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:6314867G>A	uc001amp.1	-	2	359	c.99C>T	c.(97-99)GGC>GGT	p.G33G		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	33	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		TCTGCTTGGCGCCAACGCTGA	0.637													A	6314867	G	A	6314867	2	1	126	1	0	0	0	0	0	0	0	1	6659	1074	38	1		1	GPR153	1	6314867	Silent	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08		6314867	242935754	1	75394											
CLCN6	1185	broad.mit.edu	37	chr1	11888593	11888593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgatgggggtcattgggGgcctcctgggagccacattc	16	10	1	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:11888593G>A	uc001ate.3	+	12	1146	c.1033G>A	c.(1033-1035)GGC>AGC	p.G345S	CLCN6_uc009vnh.1_Intron|CLCN6_uc010oat.1_Missense_Mutation_p.G61S|CLCN6_uc010oau.1_Missense_Mutation_p.G323S	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	345	Helical; (By similarity).				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCATTGGGGGCCTCCTGGG	0.507													A	11888593	G	A	11888593	3	1	126	1	0	0	0	0	1	0	0	0	3467	1232	43	4	1089	4	CLCN6	1	11888593	Missense_Mutation	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	5573726	11888593	237362028	2	75395											
NPPB	4879	broad.mit.edu	37	chr1	11918406	11918406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggtgcccacggatgccctCggtggctacctcccgggact	14	16	0	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:11918406C>T	uc001atj.2	-	2	355	c.253G>A	c.(253-255)GAG>AAG	p.E85K		NM_002521	NP_002512	P16860	ANFB_HUMAN	natriuretic peptide precursor B preproprotein	85					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			ovary(2)	2	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	CGGATGCCCTCGGTGGCTACC	0.642													T	11918406	C	T	11918406	3	4	126	1	0	0	0	0	1	0	0	0	10592	893	31	1	159	1	NPPB	1	11918406	Missense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	29813	11918406	237332215	3	75396											
ARID1A	8289	broad.mit.edu	37	chr1	27087887	27087905	+	Frame_Shift_Del	DEL	CACCTCGGCCACCCAGTGG	CACCTCGGCCACCCAGTGG	-													tggagcaggcaaccagatgcCacctcggccacccagtggcc							TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:27087886_27087904CCACCTCGGCCACCCAGTGG>C	uc001bmv.1	+	5	2546_2564	c.2173_2191CCACCTCGGCCACCCAGTGG>C	c.(2173-2193)ccacctcggccacccagtggcfs	p.P725fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.P725fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.P725fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.P342fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	725					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.R727fs*12(2)|p.P728fs(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAACCAGATGCCACCTCGGCCACCCAGTGGCCAGTCGGA	0.525			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27087905	CACCTCGGCCACCCAGTGG	-	27087887	7	5	126	1	0	1	0	1	0	0	0	0	913	594	21	0	2196	0	ARID1A	1	27087887	Frame_Shift_Del	DEL	CACCTCGGCCACCCAGTGG	TCGA-BR-A4J8-01A-11D-A25D-08	15169481	27087887	222162734	4	75397											
SNRNP40	9410	broad.mit.edu	37	chr1	31764770	31764770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatactcacctgccatctgTgttgtaatgcaattccatca	6	11	3	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:31764770T>C	uc001bso.2	-	3	401	c.355A>G	c.(355-357)ACA>GCA	p.T119A	SNRNP40_uc010oge.1_Missense_Mutation_p.T119A	NM_004814	NP_004805	Q96DI7	SNR40_HUMAN	WD repeat domain 57 (U5 snRNP specific)	119	WD 2.					catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding				0						CTGCCATCTGTGTTGTAATGC	0.458													C	31764770	T	C	31764770	3	2	126	1	0	0	0	0	1	0	0	0	14856	1696	59	3	750	3	SNRNP40	1	31764770	Missense_Mutation	SNP	T	TCGA-BR-A4J8-01A-11D-A25D-08	4676883	31764770	217485851	5	75398											
LEPR	3953	broad.mit.edu	37	chr1	66101896	66101896	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaacgtttgagcatctttTtatcaagcatacagcatcag	7	8	3	2			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:66101896T>C	uc001dci.2	+	20	2898	c.2696T>C	c.(2695-2697)TTT>TCT	p.F899S	LEPR_uc009waq.2_Silent_p.L173L	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	899	Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GAGCATCTTTTTATCAAGCAT	0.333													C	66101896	T	C	66101896	3	2	126	1	0	0	0	0	1	0	0	0	8728	1841	64	3	2996	3	LEPR	1	66101896	Missense_Mutation	SNP	T	TCGA-BR-A4J8-01A-11D-A25D-08	34337126	66101896	183148725	6	75399											
PTGFR	5737	broad.mit.edu	37	chr1	78958507	78958507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacctgccagacggaaaacCggctttccgtatttttttca	7	12	1	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:78958507C>T	uc001din.2	+	2	345	c.79C>T	c.(79-81)CGG>TGG	p.R27W	PTGFR_uc001dim.2_Missense_Mutation_p.R27W	NM_000959	NP_000950	P43088	PF2R_HUMAN	prostaglandin F receptor isoform a precursor	27	Extracellular (Potential).				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			ovary(3)|breast(2)|skin(1)	6				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GACGGAAAACCGGCTTTCCGT	0.438													T	78958507	C	T	78958507	3	4	126	1	0	0	0	0	1	0	0	0	12749	643	23	1	81	1	PTGFR	1	78958507	Missense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	12856611	78958507	170292114	7	75400											
S100A9	6280	broad.mit.edu	37	chr1	153333228	153333228	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgctgatggcgaggctaAcctgggcctcccacgagaag	13	12	1	2			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:153333228A>C	uc001fbq.2	+	3	302	c.259A>C	c.(259-261)ACC>CCC	p.T87P		NM_002965	NP_002956	P06702	S10A9_HUMAN	S100 calcium-binding protein A9	87	EF-hand 2.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity				0	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCGAGGCTAACCTGGGCCTC	0.572													C	153333228	A	C	153333228	3	2	126	1	0	0	0	0	1	0	0	0	13787	43	2	5	265	5	S100A9	1	153333228	Missense_Mutation	SNP	A	TCGA-BR-A4J8-01A-11D-A25D-08	74374721	153333228	95917393	8	75401											
APOA1BP	128240	broad.mit.edu	37	chr1	156563293	156563293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaccgttccacagcatcCtgagtgtcctgaagggactc	12	12	0	2			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:156563293C>T	uc001fph.2	+	5	649	c.610C>T	c.(610-612)CTG>TTG	p.L204L	APOA1BP_uc001fpg.2_Silent_p.L204L|APOA1BP_uc001fpi.2_Missense_Mutation_p.P185L|APOA1BP_uc001fpj.2_Silent_p.L121L|APOA1BP_uc001fpk.2_Silent_p.L101L|APOA1BP_uc010php.1_Silent_p.L101L	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein precursor	204	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCACAGCATCCTGAGTGTCCT	0.572													T	156563293	C	T	156563293	2	4	126	1	0	0	0	0	0	0	0	1	781	680	24	4		4	APOA1BP	1	156563293	Silent	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	3230065	156563293	92687328	9	75402											
FAM20B	9917	broad.mit.edu	37	chr1	179033214	179033214	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccatggggcaggacttacCgagaaggcaaattggccagg	14	10	0	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:179033214C>T	uc001gmc.2	+	5	1020	c.727C>T	c.(727-729)CGA>TGA	p.R243*		NM_014864	NP_055679	O75063	XYLK_HUMAN	hypothetical protein LOC9917 precursor	243	Lumenal (Potential).					Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(3)	3						CAGGACTTACCGAGAAGGCAA	0.522													T	179033214	C	T	179033214	4	4	126	1	0	0	0	0	0	1	0	0	5538	644	23	1	741	1	FAM20B	1	179033214	Nonsense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	22469921	179033214	70217407	10	75403											
CENPF	1063	broad.mit.edu	37	chr1	214818634	214818634	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaaatgagctgagtaggatCagatcggagaaagctagcat	13	5	1	4			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:214818634C>T	uc001hkm.2	+	13	5895	c.5721C>T	c.(5719-5721)ATC>ATT	p.I1907I		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2003	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGAGTAGGATCAGATCGGAGA	0.418													T	214818634	C	T	214818634	2	4	126	1	0	0	0	0	0	0	0	1	3231	816	29	4		4	CENPF	1	214818634	Silent	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	35785420	214818634	34431987	11	75404											
URB2	9816	broad.mit.edu	37	chr1	229771163	229771163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaaggggatgtgaagaCgggagccatgaagaaccttc	15	8	0	4	rs114879838	by1000genomes	TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:229771163C>T	uc001hts.1	+	4	939	c.803C>T	c.(802-804)ACG>ATG	p.T268M	URB2_uc009xfd.1_Missense_Mutation_p.T268M	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	268						nucleolus				central_nervous_system(2)|ovary(1)	3						GATGTGAAGACGGGAGCCATG	0.547													T	229771163	C	T	229771163	3	4	126	1	0	0	0	0	1	0	0	0	17022	536	19	1	813	1	URB2	1	229771163	Missense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	14952529	229771163	19479458	12	75405											
NID1	4811	broad.mit.edu	37	chr1	236175230	236175230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaccttacctccgggcaCgcaacggaagccgtctccct	8	19	1	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:236175230C>T	uc001hxo.2	-	12	2620	c.2518G>A	c.(2518-2520)GTG>ATG	p.V840M	NID1_uc009xgd.2_Intron|NID1_uc009xgc.2_Translation_Start_Site	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	840	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CCTCCGGGCACGCAACGGAAG	0.582													T	236175230	C	T	236175230	3	4	126	1	0	0	0	0	1	0	0	0	10414	536	19	1	1261	1	NID1	1	236175230	Missense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	6404067	236175230	13075391	13	75406											
EXO1	9156	broad.mit.edu	37	chr1	242021853	242021853	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaatggacttgaaattgatCaagctcggctaggaatgtgc	12	6	1	2			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:242021853C>T	uc001hzh.2	+	8	1129	c.589C>T	c.(589-591)CAA>TAA	p.Q197*	EXO1_uc001hzi.2_Nonsense_Mutation_p.Q197*|EXO1_uc001hzj.2_Nonsense_Mutation_p.Q197*|EXO1_uc009xgq.2_Nonsense_Mutation_p.Q197*	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	197	I-domain.|Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TGAAATTGATCAAGCTCGGCT	0.398								Direct_reversal_of_damage|Editing_and_processing_nucleases					T	242021853	C	T	242021853	4	4	126	1	0	0	0	0	0	1	0	0	5300	827	29	4	607	4	EXO1	1	242021853	Nonsense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	5846623	242021853	7228768	14	75407											
EIF2B4	8890	broad.mit.edu	37	chr2	27587343	27587343	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccccagctccgtgatcaccAgatccacaagctctggggga	10	15	2	2			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr2:27587343A>G	uc002rkb.2	-	13	1639	c.1496T>C	c.(1495-1497)CTG>CCG	p.L499P	EIF2B4_uc002rjz.2_Missense_Mutation_p.L519P|EIF2B4_uc002rka.2_Missense_Mutation_p.L484P|EIF2B4_uc002rkc.2_Missense_Mutation_p.L498P|EIF2B4_uc002rkd.2_Missense_Mutation_p.L293P|EIF2B4_uc002rke.2_Missense_Mutation_p.L468P	NM_001034116	NP_001029288	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B,	499					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGATCACCAGATCCACAAG	0.517													G	27587343	A	G	27587343	3	3	126	1	0	0	0	0	1	0	0	0	5003	188	7	3	79	3	EIF2B4	2	27587343	Missense_Mutation	SNP	A	TCGA-BR-A4J8-01A-11D-A25D-08		27587343	215612030	15	75408											
SNRNP200	23020	broad.mit.edu	37	chr2	96967313	96967313	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgtgatctttttgcccaGgttcactagcacatggtatc	9	10	3	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr2:96967313G>A	uc002svu.2	-	4	609	c.523C>T	c.(523-525)CTG>TTG	p.L175L		NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	175						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						TTTTTGCCCAGGTTCACTAGC	0.438													A	96967313	G	A	96967313	2	1	126	1	0	0	0	0	0	0	0	1	14852	991	35	4		4	SNRNP200	2	96967313	Silent	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	69379970	96967313	146232060	16	75409											
TMEM163	81615	broad.mit.edu	37	chr2	135309655	135309655	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcgctgtacctcataacGgagacagctaaaaagaaaga	11	8	1	3	rs145798414		TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr2:135309655G>A	uc002ttx.2	-	3	396	c.330C>T	c.(328-330)TCC>TCT	p.S110S	TMEM163_uc002tty.2_RNA	NM_030923	NP_112185	Q8TC26	TM163_HUMAN	transmembrane protein 163	110						integral to membrane					0				BRCA - Breast invasive adenocarcinoma(221;0.154)		ACCTCATAACGGAGACAGCTA	0.338													A	135309655	G	A	135309655	2	1	126	1	0	0	0	0	0	0	0	1	16075	1103	39	1		1	TMEM163	2	135309655	Silent	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	38342342	135309655	107889718	17	75410											
DFNB59	494513	broad.mit.edu	37	chr2	179325944	179325944	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttctgttgatggtcagaaGtatgtgagacttcatgcagt	12	5	3	3			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr2:179325944G>A	uc002umi.3	+	7	1358	c.1002G>A	c.(1000-1002)AAG>AAA	p.K334K	DFNB59_uc002umj.3_Silent_p.K334K	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	334					sensory perception of sound						0			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			ATGGTCAGAAGTATGTGAGAC	0.408													A	179325944	G	A	179325944	2	1	126	1	0	0	0	0	0	0	0	1	4456	1020	36	4		4	DFNB59	2	179325944	Silent	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	44016289	179325944	63873429	18	75411											
TTN	7273	broad.mit.edu	37	chr2	179593239	179593239	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atacaaacctagcactcttaAgtaggcatcacagctactgc	6	12	2	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr2:179593239A>C	uc010zfg.1	-	63	15906	c.15682T>G	c.(15682-15684)TTA>GTA	p.L5228V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L1889V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6155							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCACTCTTAAGTAGGCATCA	0.418													C	179593239	A	C	179593239	3	2	126	1	0	0	0	0	1	0	0	0	16732	69	3	5	85303	5	TTN	2	179593239	Missense_Mutation	SNP	A	TCGA-BR-A4J8-01A-11D-A25D-08	267295	179593239	63606134	19	75412											
ERBB4	2066	broad.mit.edu	37	chr2	212576825	212576825	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcccattgatcttggtacaGtttatgaatttgtcaatgtt	7	6	2	2			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr2:212576825G>T	uc002veg.1	-	9	1172	c.1074C>A	c.(1072-1074)AAC>AAA	p.N358K	ERBB4_uc002veh.1_Missense_Mutation_p.N358K|ERBB4_uc010zji.1_Missense_Mutation_p.N358K|ERBB4_uc010zjj.1_Missense_Mutation_p.N358K|ERBB4_uc010fut.1_Missense_Mutation_p.N358K	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	358	Extracellular (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TCTTGGTACAGTTTATGAATT	0.363										TSP Lung(8;0.080)			T	212576825	G	T	212576825	3	4	126	1	0	0	0	0	1	0	0	0	5209	1020	36	5	2932	5	ERBB4	2	212576825	Missense_Mutation	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	32983586	212576825	30622548	20	75413											
IRS1	3667	broad.mit.edu	37	chr2	227663060	227663060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgctgcagctgcccccaCcacctcccgccccgagggcc	10	23	0	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr2:227663060C>T	uc002voh.3	-	1	447	c.395G>A	c.(394-396)GGT>GAT	p.G132D		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	132	Poly-Gly.|Mediates interaction with PHIP (By similarity).				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCTGCCCCCACCACCTCCCGC	0.672											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	227663060	C	T	227663060	3	4	126	1	0	0	0	0	1	0	0	0	7840	507	18	4	3337	4	IRS1	2	227663060	Missense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	15086235	227663060	15536313	21	75414											
PDZRN3	23024	broad.mit.edu	37	chr3	73432887	73432887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcttcagggcgcgctcccGcagcaggcggtcccgcacgg	15	16	2	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr3:73432887G>A	uc003dpl.1	-	10	2926	c.2830C>T	c.(2830-2832)CGG>TGG	p.R944W	PDZRN3_uc011bgh.1_Missense_Mutation_p.R601W|PDZRN3_uc010hoe.1_Missense_Mutation_p.R642W|PDZRN3_uc011bgf.1_Missense_Mutation_p.R661W|PDZRN3_uc011bgg.1_Missense_Mutation_p.R664W	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	944							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCGCGCTCCCGCAGCAGGCGG	0.677													A	73432887	G	A	73432887	3	1	126	1	0	0	0	0	1	0	0	0	11709	1086	38	1	374	1	PDZRN3	3	73432887	Missense_Mutation	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08		73432887	124589543	22	75415											
PHLDB2	90102	broad.mit.edu	37	chr3	111667811	111667811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaatgagattaatgagccGtgtggcaattccacgaatct	10	7	1	2			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr3:111667811G>A	uc010hqa.2	+	10	2931	c.2520G>A	c.(2518-2520)CCG>CCA	p.P840P	PHLDB2_uc003dyc.2_Silent_p.P824P|PHLDB2_uc003dyd.2_Silent_p.P797P|PHLDB2_uc003dyg.2_Silent_p.P840P|PHLDB2_uc003dyh.2_Silent_p.P797P|PHLDB2_uc003dyi.2_Intron	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	840						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						TTAATGAGCCGTGTGGCAATT	0.473													A	111667811	G	A	111667811	2	1	126	1	0	0	0	0	0	0	0	1	11852	1132	40	1		1	PHLDB2	3	111667811	Silent	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	38234924	111667811	86354619	23	75416											
KTELC1	56983	broad.mit.edu	37	chr3	119209420	119209420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgtttaattttcgaggcGtagctgcaagtttccggttt	10	7	1	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr3:119209420G>A	uc003ecm.2	+	9	904	c.820G>A	c.(820-822)GTA>ATA	p.V274I	KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Missense_Mutation_p.V115I	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor	274						endoplasmic reticulum lumen	UDP-glucosyltransferase activity				0				GBM - Glioblastoma multiforme(114;0.233)		TTTTCGAGGCGTAGCTGCAAG	0.418													A	119209420	G	A	119209420	3	1	126	1	0	0	0	0	1	0	0	0	8583	1145	40	1	854	1	KTELC1	3	119209420	Missense_Mutation	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	7541609	119209420	78813010	24	75417											
DNAJC13	23317	broad.mit.edu	37	chr3	132172210	132172210	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccatgctggtaactacatAggtatttcattgcggatcag	10	8	2	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr3:132172210A>C	uc003eor.2	+	7	671	c.606A>C	c.(604-606)ATA>ATC	p.I202I	DNAJC13_uc010htq.1_Silent_p.I202I|DNAJC13_uc003eos.1_5'Flank	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	202							heat shock protein binding			ovary(1)|breast(1)	2						GTAACTACATAGGTATTTCAT	0.353													C	132172210	A	C	132172210	2	2	126	1	0	0	0	0	0	0	0	1	4632	410	15	5		5	DNAJC13	3	132172210	Silent	SNP	A	TCGA-BR-A4J8-01A-11D-A25D-08	12962790	132172210	65850220	25	75418											
STX18	53407	broad.mit.edu	37	chr4	4543685	4543685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatagcagcgtgatgtccaCcgccatagcgacccgcaccc	10	16	0	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr4:4543685C>T	uc003gic.2	-	1	91	c.7G>A	c.(7-9)GTG>ATG	p.V3M	uc003gid.2_5'Flank	NM_016930	NP_058626	Q9P2W9	STX18_HUMAN	syntaxin 18	3	Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		GTGATGTCCACCGCCATAGCG	0.711													T	4543685	C	T	4543685	3	4	126	1	0	0	0	0	1	0	0	0	15340	507	18	4	1044	4	STX18	4	4543685	Missense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08		4543685	186610591	26	75419											
SH3TC1	54436	broad.mit.edu	37	chr4	8229026	8229026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttccgcagcttcagcgaCgaggaggagctgactgggcg	17	10	1	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr4:8229026C>T	uc003gkv.3	+	12	1706	c.1605C>T	c.(1603-1605)GAC>GAT	p.D535D	SH3TC1_uc003gkw.3_Silent_p.D459D|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	535							binding			large_intestine(2)|pancreas(1)	3						GCTTCAGCGACGAGGAGGAGC	0.687													T	8229026	C	T	8229026	2	4	126	1	0	0	0	0	0	0	0	1	14261	535	19	1		1	SH3TC1	4	8229026	Silent	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	3685341	8229026	182925250	27	75420											
AFM	173	broad.mit.edu	37	chr4	74367522	74367522	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggtttcttgtcaacttagtGaagctgaagcatgaactcac	9	8	3	3			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr4:74367522G>A	uc003hhb.2	+	13	1696	c.1665G>A	c.(1663-1665)GTG>GTA	p.V555V		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor	555	Albumin 3.				vitamin transport		vitamin E binding			ovary(2)|central_nervous_system(1)	3	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCAACTTAGTGAAGCTGAAGC	0.388													A	74367522	G	A	74367522	2	1	126	1	0	0	0	0	0	0	0	1	361	1277	45	4		4	AFM	4	74367522	Silent	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	66138496	74367522	116786754	28	75421											
BMP3	651	broad.mit.edu	37	chr4	81967172	81967172	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatattatgtcctggctgtcTaaagatatcactcaactctt	6	9	4	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr4:81967172T>A	uc003hmg.3	+	2	917	c.597T>A	c.(595-597)TCT>TCA	p.S199S		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	199					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5						CCTGGCTGTCTAAAGATATCA	0.453													A	81967172	T	A	81967172	2	1	126	1	0	0	0	0	0	0	0	1	1461	1509	53	5		5	BMP3	4	81967172	Silent	SNP	T	TCGA-BR-A4J8-01A-11D-A25D-08	7599650	81967172	109187104	29	75422											
NPR3	4883	broad.mit.edu	37	chr5	32724837	32724837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgagcagtgacaccatccGgagcatcatgctggtggcgc	14	12	1	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr5:32724837G>A	uc003jhv.2	+	2	1021	c.803G>A	c.(802-804)CGG>CAG	p.R268Q	NPR3_uc010iuo.2_Missense_Mutation_p.R52Q|NPR3_uc011cnz.1_Missense_Mutation_p.R52Q|NPR3_uc003jhu.2_Missense_Mutation_p.R268Q	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	268	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	GACACCATCCGGAGCATCATG	0.502													A	32724837	G	A	32724837	3	1	126	1	0	0	0	0	1	0	0	0	10596	1116	39	1	809	1	NPR3	5	32724837	Missense_Mutation	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08		32724837	148190423	30	75423											
ERBB2IP	55914	broad.mit.edu	37	chr5	65349645	65349645	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaacttcccagtctccTaataggactgaaccacatga	8	11	1	2			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr5:65349645T>C	uc003juk.1	+	21	2807	c.2499T>C	c.(2497-2499)CCT>CCC	p.P833P	ERBB2IP_uc003jui.1_Silent_p.P833P|ERBB2IP_uc003juj.1_Silent_p.P833P|ERBB2IP_uc011cqx.1_Silent_p.P833P|ERBB2IP_uc011cqy.1_Silent_p.P833P|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Silent_p.P829P|ERBB2IP_uc003jul.1_Silent_p.P829P	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	833					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CCCAGTCTCCTAATAGGACTG	0.408													C	65349645	T	C	65349645	2	2	126	1	0	0	0	0	0	0	0	1	5207	1509	53	3		3	ERBB2IP	5	65349645	Silent	SNP	T	TCGA-BR-A4J8-01A-11D-A25D-08	32624808	65349645	115565615	31	75424											
PDLIM4	8572	broad.mit.edu	37	chr5	131607859	131607859	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agccacgccaaggcgcgcgtGaagccgcccgagggctacga	15	15	0	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr5:131607859G>A	uc003kwn.2	+	7	1007	c.930G>A	c.(928-930)GTG>GTA	p.V310V	uc003kwm.3_Intron|PDLIM4_uc003kwp.2_3'UTR|PDLIM4_uc003kwo.2_Silent_p.V418V	NM_003687	NP_003678	P50479	PDLI4_HUMAN	PDZ and LIM domain 4 isoform 1	310	LIM zinc-binding.						protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCGCGCGTGAAGCCGCCCG	0.617													A	131607859	G	A	131607859	2	1	126	1	0	0	0	0	0	0	0	1	11682	1277	45	4		4	PDLIM4	5	131607859	Silent	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	66258214	131607859	49307401	32	75425											
APBB3	10307	broad.mit.edu	37	chr5	139938226	139938226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcaagaaaagagaagaCaccccgctttcgaggggttg	13	9	1	3			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr5:139938226C>T	uc003lgd.1	-	12	1779	c.1420G>A	c.(1420-1422)GTC>ATC	p.V474I	SRA1_uc003lfz.2_5'Flank|SRA1_uc010jfm.2_5'Flank|SRA1_uc003lga.2_5'Flank|APBB3_uc003lgb.1_Missense_Mutation_p.V246I|APBB3_uc003lgc.1_Missense_Mutation_p.V246I|APBB3_uc003lge.1_Missense_Mutation_p.V467I|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_Missense_Mutation_p.V246I	NM_133172	NP_573418	O95704	APBB3_HUMAN	amyloid beta precursor protein-binding, family	469						actin cytoskeleton|cytoplasm				ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGAGAAGACACCCCGCTTT	0.602													T	139938226	C	T	139938226	3	4	126	1	0	0	0	0	1	0	0	0	762	478	17	4	59	4	APBB3	5	139938226	Missense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	8330367	139938226	40977034	33	75426											
PCDHB2	56133	broad.mit.edu	37	chr5	140475721	140475721	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctccgacgtcaatgacaaCgcccccgccttcacccaaac	6	19	3	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr5:140475721C>T	uc003lil.2	+	1	1485	c.1347C>T	c.(1345-1347)AAC>AAT	p.N449N	PCDHB2_uc003lim.1_Silent_p.N110N	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	449	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATGACAACGCCCCCGCCT	0.597													T	140475721	C	T	140475721	2	4	126	1	0	0	0	0	0	0	0	1	11542	535	19	1		1	PCDHB2	5	140475721	Silent	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	537495	140475721	40439539	34	75427											
SOX30	11063	broad.mit.edu	37	chr5	157073806	157073806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgttttcgcttccctggaCgaggctgataaacccaacct	8	13	0	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr5:157073806C>T	uc003lxb.1	-	3	1568	c.1226G>A	c.(1225-1227)CGT>CAT	p.R409H	SOX30_uc003lxc.1_Missense_Mutation_p.R409H|SOX30_uc011dds.1_Missense_Mutation_p.R104H	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	409					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTCCCTGGACGAGGCTGATA	0.348													T	157073806	C	T	157073806	3	4	126	1	0	0	0	0	1	0	0	0	14952	536	19	1	1047	1	SOX30	5	157073806	Missense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	16598085	157073806	23841454	35	75428											
CCDC99	54908	broad.mit.edu	37	chr5	169021405	169021405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttgaatttagaaagctcGtgtagcaaatcaagatcttc	7	7	2	3			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr5:169021405G>A	uc003mae.3	+	6	968	c.689G>A	c.(688-690)CGT>CAT	p.R230H	CCDC99_uc010jjj.2_Missense_Mutation_p.R159H|CCDC99_uc011deq.1_Missense_Mutation_p.R47H|CCDC99_uc010jjk.2_Intron	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	coiled-coil domain containing 99	230	Potential.				cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			ovary(1)|liver(1)	2	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGAAAGCTCGTGTAGCAAAT	0.358													A	169021405	G	A	169021405	3	1	126	1	0	0	0	0	1	0	0	0	2876	1145	40	1	707	1	CCDC99	5	169021405	Missense_Mutation	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	11947599	169021405	11893855	36	75429											
ADAMTS2	9509	broad.mit.edu	37	chr5	178548684	178548684	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgagatcttccggatgggCgagtcggggtccgggcggga	20	9	1	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr5:178548684C>T	uc003mjw.2	-	21	3156	c.3156G>A	c.(3154-3156)TCG>TCA	p.S1052S		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1052					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCCGGATGGGCGAGTCGGGGT	0.627													T	178548684	C	T	178548684	2	4	126	1	0	0	0	0	0	0	0	1	265	755	27	1		1	ADAMTS2	5	178548684	Silent	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	9527279	178548684	2366576	37	75430											
DSP	1832	broad.mit.edu	37	chr6	7586000	7586000	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcccgctcgggatctcgctcCggatctcgctccgggtcccg	12	18	2	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr6:7586000C>G	uc003mxp.1	+	24	8784	c.8505C>G	c.(8503-8505)TCC>TCG	p.S2835S	DSP_uc003mxq.1_Silent_p.S2236S	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2835	6 X 4 AA tandem repeats of G-S-R-[SR].|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		gatctcgctccggatctcgct	0.393													G	7586000	C	G	7586000	2	3	126	1	0	0	0	0	0	0	0	1	4781	639	23	5		5	DSP	6	7586000	Silent	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08		7586000	163529067	38	75431											
SLC44A4	80736	broad.mit.edu	37	chr6	31839132	31839132	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgggcaaaatcttcaaagatCttaacactgatgtctcgggc	9	9	4	2			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr6:31839132C>A	uc010jti.2	-	9	726	c.660G>T	c.(658-660)AAG>AAT	p.K220N	SLC44A4_uc011dol.1_Missense_Mutation_p.K144N|SLC44A4_uc011dom.1_Missense_Mutation_p.K178N	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	220	Extracellular (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)	CTTCAAAGATCTTAACACTGA	0.522													A	31839132	C	A	31839132	3	1	126	1	0	0	0	0	1	0	0	0	14638	912	32	5	1524	5	SLC44A4	6	31839132	Missense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	24253132	31839132	139275935	39	75432											
DST	667	broad.mit.edu	37	chr6	56392430	56392430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgccttgcaagctgcagcGcctgttccagagtcttggcc	12	15	1	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr6:56392430G>A	uc003pdf.2	-	62	11454	c.11426C>T	c.(11425-11427)GCG>GTG	p.A3809V	DST_uc003pcz.3_Missense_Mutation_p.A3631V|DST_uc011dxj.1_Missense_Mutation_p.A3660V|DST_uc011dxk.1_Missense_Mutation_p.A3671V|DST_uc003pcy.3_Missense_Mutation_p.A3305V	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5717					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)			AAGCTGCAGCGCCTGTTCCAG	0.448													A	56392430	G	A	56392430	3	1	126	1	0	0	0	0	1	0	0	0	4783	1087	38	1	5745	1	DST	6	56392430	Missense_Mutation	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	24553298	56392430	114722637	40	75433											
BVES	11149	broad.mit.edu	37	chr6	105573419	105573419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtggttcaaacaatcgcCggtacatgccactgagttcc	11	11	1	1	rs148128379		TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr6:105573419C>T	uc003pqw.2	-	4	543	c.386G>A	c.(385-387)CGG>CAG	p.R129Q	BVES_uc003pqx.2_Missense_Mutation_p.R129Q|BVES_uc003pqy.2_Missense_Mutation_p.R129Q	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance isoform 5	129	Cytoplasmic (Potential).				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity				0		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AAACAATCGCCGGTACATGCC	0.443													T	105573419	C	T	105573419	3	4	126	1	0	0	0	0	1	0	0	0	1575	652	23	1	716	1	BVES	6	105573419	Missense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	49180989	105573419	65541648	41	75434											
DDO	8528	broad.mit.edu	37	chr6	110729555	110729555	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accctgataccaaatgaacaCcagcatctccagcttctgca	5	15	2	2			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr6:110729555C>G	uc003puc.2	-	3	351	c.347G>C	c.(346-348)GGT>GCT	p.G116A	C6orf186_uc003pub.2_5'UTR|DDO_uc003pud.2_Missense_Mutation_p.G116A	NM_003649	NP_003640	Q99489	OXDD_HUMAN	D-aspartate oxidase isoform a	88					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			ovary(2)|breast(1)	3		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CAAATGAACACCAGCATCTCC	0.378													G	110729555	C	G	110729555	3	3	126	1	0	0	0	0	1	0	0	0	4334	507	18	5	774	5	DDO	6	110729555	Missense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	5156136	110729555	60385512	42	75435											
CARD11	84433	broad.mit.edu	37	chr7	2977628	2977628	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcacagtcctttcccagggtCgagcacttgagctccaggtc	10	14	1	1	rs145169161		TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr7:2977628C>T	uc003smv.2	-	8	1460	c.1056G>A	c.(1054-1056)TCG>TCA	p.S352S		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	352	Potential.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTCCCAGGGTCGAGCACTTGA	0.552			Mis		DLBCL								T	2977628	C	T	2977628	2	4	126	1	0	0	0	0	0	0	0	1	2645	871	31	1		1	CARD11	7	2977628	Silent	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08		2977628	156161035	43	75436											
LEP	3952	broad.mit.edu	37	chr7	127894645	127894645	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggatcttcttcacgtgctGgccttctctaagagctgcca	10	13	4	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr7:127894645G>T	uc003vml.2	+	3	390	c.333G>T	c.(331-333)CTG>CTT	p.L111L	LEP_uc003vmm.2_Silent_p.L110L	NM_000230	NP_000221	P41159	LEP_HUMAN	leptin precursor	111					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space					0						TTCACGTGCTGGCCTTCTCTA	0.572													T	127894645	G	T	127894645	2	4	126	1	0	0	0	0	0	0	0	1	8727	1335	47	5		5	LEP	7	127894645	Silent	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	124917017	127894645	31244018	44	75437											
DOK2	9046	broad.mit.edu	37	chr8	21767234	21767234	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaggcggcggcagtgagTcatgcggccgagagtagggg	21	7	1	3			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr8:21767234T>A	uc003wzy.1	-	5	920	c.827A>T	c.(826-828)GAC>GTC	p.D276V	DOK2_uc003wzx.1_Missense_Mutation_p.D276V|DOK2_uc003wzz.1_Missense_Mutation_p.D122V|DOK2_uc010lth.1_Missense_Mutation_p.D122V	NM_003974	NP_003965	O60496	DOK2_HUMAN	docking protein 2	276	Pro-rich.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding				0				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CGGCAGTGAGTCATGCGGCCG	0.692													A	21767234	T	A	21767234	3	1	126	1	0	0	0	0	1	0	0	0	4697	1667	58	5	415	5	DOK2	8	21767234	Missense_Mutation	SNP	T	TCGA-BR-A4J8-01A-11D-A25D-08		21767234	124596788	45	75438											
TOX	9760	broad.mit.edu	37	chr8	59764183	59764183	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgagttgtggggaacattgCttcctcccatattcaaacca	9	10	1	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr8:59764183C>A	uc003xtw.1	-	4	814	c.593G>T	c.(592-594)AGC>ATC	p.S198I		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	198						nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GGGAACATTGCTTCCTCCCAT	0.498													A	59764183	C	A	59764183	3	1	126	1	0	0	0	0	1	0	0	0	16374	797	28	5	1011	5	TOX	8	59764183	Missense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	37996949	59764183	86599839	46	75439											
SULF1	23213	broad.mit.edu	37	chr8	70515533	70515533	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agtctgtcctcaaacttctgGacccagaaaagccaggtaac	8	12	3	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr8:70515533G>T	uc010lza.1	+	11	1885	c.1168G>T	c.(1168-1170)GAC>TAC	p.D390Y	SULF1_uc003xyd.2_Missense_Mutation_p.D390Y|SULF1_uc003xye.2_Missense_Mutation_p.D390Y|SULF1_uc003xyf.2_Missense_Mutation_p.D390Y|SULF1_uc003xyg.2_Missense_Mutation_p.D390Y|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	390					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAAACTTCTGGACCCAGAAAA	0.552													T	70515533	G	T	70515533	3	4	126	1	0	0	0	0	1	0	0	0	15369	1174	41	5	1194	5	SULF1	8	70515533	Missense_Mutation	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	10751350	70515533	75848489	47	75440											
DECR1	1666	broad.mit.edu	37	chr8	91063919	91063919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaggtcattaaatttgaCggtggagaggaagtacttat	11	5	1	2			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr8:91063919C>T	uc003yek.1	+	9	1041	c.900C>T	c.(898-900)GAC>GAT	p.D300D	DECR1_uc011lgc.1_Silent_p.D291D|DECR1_uc011lgd.1_RNA	NM_001359	NP_001350	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1 precursor	300					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTAAATTTGACGGTGGAGAGG	0.343													T	91063919	C	T	91063919	2	4	126	1	0	0	0	0	0	0	0	1	4382	535	19	1		1	DECR1	8	91063919	Silent	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	20548386	91063919	55300103	48	75441											
PRUNE2	158471	broad.mit.edu	37	chr9	79441533	79441533	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtctcctgtaggacgttgatGatgtcctctcttggaggcaa	12	9	2	2			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr9:79441533G>A	uc010mpk.2	-	5	748	c.624C>T	c.(622-624)ATC>ATT	p.I208I	PRUNE2_uc004akn.2_Silent_p.I208I	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	208					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						GGACGTTGATGATGTCCTCTC	0.498													A	79441533	G	A	79441533	2	1	126	1	0	0	0	0	0	0	0	1	12641	1280	45	4		4	PRUNE2	9	79441533	Silent	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08		79441533	61771898	49	75442											
PRPF4	9128	broad.mit.edu	37	chr9	116041256	116041256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaattgaagagcatatcagCgagcgacaggcagaagtatt	12	6	1	3			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr9:116041256C>T	uc004bgx.2	+	3	290	c.240C>T	c.(238-240)AGC>AGT	p.S80S	PRPF4_uc004bgy.2_Silent_p.S79S	NM_004697	NP_004688	O43172	PRP4_HUMAN	PRP4 pre-mRNA processing factor 4 homolog	80				HISERQAEVLAEFERRKRARQINVST -> ISASDRQKYWL SLREGSEPGRSMFPP (in Ref. 3; AAC02261).		Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			ovary(2)|pancreas(1)	3						AGCATATCAGCGAGCGACAGG	0.413													T	116041256	C	T	116041256	2	4	126	1	0	0	0	0	0	0	0	1	12570	767	27	1		1	PRPF4	9	116041256	Silent	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	36599723	116041256	25172175	50	75443											
CRAT	1384	broad.mit.edu	37	chr9	131857760	131857760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatgcgccaggcgggcggcGttggtctccgcgcagctgtt	16	12	1	0	rs2296770		TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr9:131857760G>A	uc004bxh.2	-	14	2079	c.1797C>T	c.(1795-1797)AAC>AAT	p.N599N	CRAT_uc004bxg.2_Silent_p.N578N|CRAT_uc004bxk.3_Silent_p.N578N	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	599					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GGCGGGCGGCGTTGGTCTCCG	0.667													A	131857760	G	A	131857760	2	1	126	1	0	0	0	0	0	0	0	1	3847	1136	40	1		1	CRAT	9	131857760	Silent	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	15816504	131857760	9355671	51	75444											
NELF	26012	broad.mit.edu	37	chr9	140343924	140343924	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaaccggaagtcaaagtaCgtctcgatcatctgcttccc	7	13	4	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr9:140343924C>T	uc004cna.2	-	16	1747	c.1515G>A	c.(1513-1515)ACG>ACA	p.T505T	C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_Silent_p.T302T|NELF_uc010nci.2_Silent_p.T249T|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Silent_p.T482T|NELF_uc004cmz.2_Silent_p.T503T|NELF_uc004cnc.2_Silent_p.T480T|NELF_uc004cnb.2_Silent_p.T475T	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	nasal embryonic LHRH factor isoform a	505						nucleus|plasma membrane					0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)		AGTCAAAGTACGTCTCGATCA	0.667													T	140343924	C	T	140343924	2	4	126	1	0	0	0	0	0	0	0	1	10332	523	19	1		1	NELF	9	140343924	Silent	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	8486164	140343924	869507	52	75445											
RBP3	5949	broad.mit.edu	37	chr10	48388253	48388253	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatgcccacagagagtgcGcctccggccgtgggctcccc	13	16	0	2	rs142862418		TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr10:48388253G>A	uc001jez.2	-	1	2739	c.2625C>T	c.(2623-2625)GGC>GGT	p.G875G		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	875	4 X approximate tandem repeats.|3.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	CAGAGAGTGCGCCTCCGGCCG	0.652													A	48388253	G	A	48388253	2	1	126	1	0	0	0	0	0	0	0	1	13157	1074	38	1		1	RBP3	10	48388253	Silent	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08		48388253	87146494	53	75446											
CTNNA3	29119	broad.mit.edu	37	chr10	68940162	68940162	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgctctcggtgtaagtccctCgtacatgaagaatccgccag	10	13	1	2			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr10:68940162C>T	uc009xpn.1	-	7	1083	c.960G>A	c.(958-960)ACG>ACA	p.T320T	CTNNA3_uc001jmw.2_Silent_p.T320T|CTNNA3_uc001jmx.3_Silent_p.T320T|CTNNA3_uc009xpo.1_Silent_p.T180T|CTNNA3_uc001jna.2_Silent_p.T332T	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	320					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						GTAAGTCCCTCGTACATGAAG	0.502													T	68940162	C	T	68940162	2	4	126	1	0	0	0	0	0	0	0	1	4014	871	31	1		1	CTNNA3	10	68940162	Silent	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	20551909	68940162	66594585	54	75447											
MUC5B	727897	broad.mit.edu	37	chr11	1271245	1271245	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgacaagggccaccagttccAcgtccaccccctcctccact	6	21	0	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr11:1271245A>C	uc009ycr.1	+	51	14680	c.14554A>C	c.(14554-14556)ACG>CCG	p.T4852P	MUC5B_uc001ltb.2_Missense_Mutation_p.T4382P	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4379	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCAGTTCCACGTCCACCCC	0.657													C	1271245	A	C	1271245	3	2	126	1	0	0	0	0	1	0	0	0	9979	159	6	5	13266	5	MUC5B	11	1271245	Missense_Mutation	SNP	A	TCGA-BR-A4J8-01A-11D-A25D-08		1271245	133735271	55	75448											
OR52K1	390036	broad.mit.edu	37	chr11	4511022	4511022	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctatcatatatggagtcaagAccaagcagattcgtgagtat	9	7	2	3			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr11:4511022A>T	uc001lza.1	+	1	892	c.892A>T	c.(892-894)ACC>TCC	p.T298S		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	298	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGGAGTCAAGACCAAGCAGAT	0.448													T	4511022	A	T	4511022	3	4	126	1	0	0	0	0	1	0	0	0	11123	275	10	5	894	5	OR52K1	11	4511022	Missense_Mutation	SNP	A	TCGA-BR-A4J8-01A-11D-A25D-08	3239777	4511022	130495494	56	75449											
OR56B1	387748	broad.mit.edu	37	chr11	5758490	5758490	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagccaaggccctgagCacttgtagttcacatctcac	9	14	2	1	rs144847345		TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr11:5758490C>A	uc001mbt.1	+	1	744	c.744C>A	c.(742-744)AGC>AGA	p.S248R	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B,	248	Helical; Name=6; (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)		AGGCCCTGAGCACTTGTAGTT	0.408													A	5758490	C	A	5758490	3	1	126	1	0	0	0	0	1	0	0	0	11137	709	25	5	746	5	OR56B1	11	5758490	Missense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	1247468	5758490	129248026	57	75450											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077528	19077528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctgacaggtgtctggggCggcggcagcgataccagatg	17	11	1	2			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr11:19077528C>T	uc001mph.2	-	2	510	c.422G>A	c.(421-423)CGC>CAC	p.R141H		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	141	Cytoplasmic (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						GTGTCTGGGGCGGCGGCAGCG	0.602													T	19077528	C	T	19077528	3	4	126	1	0	0	0	0	1	0	0	0	9767	768	27	1	574	1	MRGPRX2	11	19077528	Missense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	13319038	19077528	115928988	58	75451											
RAG1	5896	broad.mit.edu	37	chr11	36597806	36597806	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatgccaggcagtccaaatgCtatgagatggaagatgtcct	11	8	0	2			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr11:36597806C>G	uc001mwu.3	+	2	3076	c.2952C>G	c.(2950-2952)TGC>TGG	p.C984W	RAG1_uc001mwt.2_Intron	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	984					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				AGTCCAAATGCTATGAGATGG	0.453									Familial_Hemophagocytic_Lymphohistiocytosis				G	36597806	C	G	36597806	3	3	126	1	0	0	0	0	1	0	0	0	13003	805	28	5	2954	5	RAG1	11	36597806	Missense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	17520278	36597806	98408710	59	75452											
OR5B2	390190	broad.mit.edu	37	chr11	58189993	58189993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattactgtcccatagaagaCggagactgcagtgaagtgag	13	7	0	5	rs140238243		TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr11:58189993C>T	uc010rkg.1	-	1	742	c.742G>A	c.(742-744)GTC>ATC	p.V248I		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B,	248	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V248I(1)		ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCATAGAAGACGGAGACTGCA	0.468													T	58189993	C	T	58189993	3	4	126	1	0	0	0	0	1	0	0	0	11150	536	19	1	191	1	OR5B2	11	58189993	Missense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	21592187	58189993	76816523	60	75453											
LPXN	9404	broad.mit.edu	37	chr11	58318648	58318648	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcattgagtccagggaggCcttgtgatcctgcttgtctg	13	9	1	2			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr11:58318648C>A	uc001nmw.2	-	5	521	c.376G>T	c.(376-378)GCC>TCC	p.A126S	LPXN_uc009ymp.2_5'UTR|LPXN_uc010rkj.1_Missense_Mutation_p.A131S|LPXN_uc010rkk.1_Missense_Mutation_p.A106S|LPXN_uc010rkl.1_RNA	NM_004811	NP_004802	O60711	LPXN_HUMAN	leupaxin isoform 2	126					cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TCCAGGGAGGCCTTGTGATCC	0.537													A	58318648	C	A	58318648	3	1	126	1	0	0	0	0	1	0	0	0	8929	739	26	5	804	5	LPXN	11	58318648	Missense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	128655	58318648	76687868	61	75454											
RASGRP2	10235	broad.mit.edu	37	chr11	64503430	64503430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtacagctcatcctccGtctgatactgatccagagac	9	13	2	3	rs139499587		TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr11:64503430G>A	uc009ypu.2	-	10	1345	c.1118C>T	c.(1117-1119)ACG>ATG	p.T373M	RASGRP2_uc001oat.2_Missense_Mutation_p.T275M|RASGRP2_uc001oau.2_Missense_Mutation_p.T228M|RASGRP2_uc009ypv.2_Missense_Mutation_p.T373M|RASGRP2_uc009ypw.2_Missense_Mutation_p.T373M	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2	373	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity				0						CTCATCCTCCGTCTGATACTG	0.627													A	64503430	G	A	64503430	3	1	126	1	0	0	0	0	1	0	0	0	13075	1145	40	1	739	1	RASGRP2	11	64503430	Missense_Mutation	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	6184782	64503430	70503086	62	75455											
GRIA4	2893	broad.mit.edu	37	chr11	105795326	105795326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctacattggtgtcagcGtggtcttattcctagttagt	10	8	2	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr11:105795326G>A	uc001pix.2	+	12	2124	c.1678G>A	c.(1678-1680)GTG>ATG	p.V560M	GRIA4_uc001piw.2_Missense_Mutation_p.V560M	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	560	Helical; (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TGGTGTCAGCGTGGTCTTATT	0.473													A	105795326	G	A	105795326	3	1	126	1	0	0	0	0	1	0	0	0	6770	1145	40	1	1757	1	GRIA4	11	105795326	Missense_Mutation	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	41291896	105795326	29211190	63	75456											
SRPR	6734	broad.mit.edu	37	chr11	126137202	126137202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttcatggtagtgggagCacggatcttactgctctcct	10	10	4	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr11:126137202C>T	uc001qdh.2	-	4	445	c.394G>A	c.(394-396)GCT>ACT	p.A132T	SRPR_uc010sbm.1_Missense_Mutation_p.A104T|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	132					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		GTAGTGGGAGCACGGATCTTA	0.438													T	126137202	C	T	126137202	3	4	126	1	0	0	0	0	1	0	0	0	15161	710	25	2	1566	2	SRPR	11	126137202	Missense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	20341876	126137202	8869314	64	75457											
CCND2	894	broad.mit.edu	37	chr12	4388038	4388038	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccagcagcgggagaagctgtCtctgatccgcaagcatgctc	12	13	1	2	rs143681287		TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr12:4388038C>T	uc001qmo.2	+	3	829	c.524C>T	c.(523-525)TCT>TTT	p.S175F		NM_001759	NP_001750	P30279	CCND2_HUMAN	cyclin D2	175					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1)	3			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GAGAAGCTGTCTCTGATCCGC	0.572			T	IGL@	NHL,CLL								T	4388038	C	T	4388038	3	4	126	1	0	0	0	0	1	0	0	0	2917	913	32	4	534	4	CCND2	12	4388038	Missense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08		4388038	129463857	65	75458											
KRT72	140807	broad.mit.edu	37	chr12	52981611	52981611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccgctgttcagcgtcggCgatggccgtctccagatcgg	13	16	2	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr12:52981611C>T	uc001sar.2	-	7	1200	c.1114G>A	c.(1114-1116)GCC>ACC	p.A372T	KRT72_uc001saq.2_Missense_Mutation_p.A372T|KRT72_uc010sns.1_Missense_Mutation_p.A330T|KRT72_uc010snt.1_Missense_Mutation_p.A184T	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN	keratin 72 isoform 1	372	Coil 2.|Rod.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6				BRCA - Breast invasive adenocarcinoma(357;0.195)		TCAGCGTCGGCGATGGCCGTC	0.622													T	52981611	C	T	52981611	3	4	126	1	0	0	0	0	1	0	0	0	8485	768	27	1	433	1	KRT72	12	52981611	Missense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	48593573	52981611	80870284	66	75459											
OR6C2	341416	broad.mit.edu	37	chr12	55846401	55846401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcattatgtggtcatcatgaAcaacagggtgtgtaccttat	9	7	3	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr12:55846401A>G	uc001sgz.1	+	1	404	c.404A>G	c.(403-405)AAC>AGC	p.N135S		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						GTCATCATGAACAACAGGGTG	0.458													G	55846401	A	G	55846401	3	3	126	1	0	0	0	0	1	0	0	0	11191	43	2	3	406	3	OR6C2	12	55846401	Missense_Mutation	SNP	A	TCGA-BR-A4J8-01A-11D-A25D-08	2864790	55846401	78005494	67	75460											
E2F7	144455	broad.mit.edu	37	chr12	77449854	77449854	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcgataaatcaattggTtcattttttattggagtctt	7	5	3	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr12:77449854T>C	uc001sym.3	-	3	386	c.150A>G	c.(148-150)GAA>GAG	p.E50E	E2F7_uc001syn.2_Silent_p.E50E	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	50					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						AATCAATTGGTTCATTTTTTA	0.363													C	77449854	T	C	77449854	2	2	126	1	0	0	0	0	0	0	0	1	4872	1722	60	3		3	E2F7	12	77449854	Silent	SNP	T	TCGA-BR-A4J8-01A-11D-A25D-08	21603453	77449854	56402041	68	75461											
PLBD2	196463	broad.mit.edu	37	chr12	113821937	113821937	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggagaccaccattggcaacAagaacccagccctgtggaag	11	12	0	2			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr12:113821937A>T	uc001tve.2	+	7	1020	c.985A>T	c.(985-987)AAG>TAG	p.K329*	PLBD2_uc001tvf.2_Nonsense_Mutation_p.K329*	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2 isoform 1	329					lipid catabolic process	lysosomal lumen	hydrolase activity				0						CATTGGCAACAAGAACCCAGC	0.612													T	113821937	A	T	113821937	4	4	126	1	0	0	0	0	0	1	0	0	12026	131	5	5	1011	5	PLBD2	12	113821937	Nonsense_Mutation	SNP	A	TCGA-BR-A4J8-01A-11D-A25D-08	36372083	113821937	20029958	69	75462											
STARD13	90627	broad.mit.edu	37	chr13	33741704	33741704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaccctcatataactgagcGtattgcgggaacccggcagc	11	12	1	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr13:33741704G>A	uc001uuw.2	-	2	351	c.225C>T	c.(223-225)TAC>TAT	p.Y75Y	STARD13_uc001uuu.2_Silent_p.Y67Y|STARD13_uc001uuv.2_Translation_Start_Site|STARD13_uc001uux.2_Silent_p.Y40Y|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Silent_p.Y60Y	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	75	SAM.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		ATAACTGAGCGTATTGCGGGA	0.473													A	33741704	G	A	33741704	2	1	126	1	0	0	0	0	0	0	0	1	15255	1140	40	1		1	STARD13	13	33741704	Silent	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08		33741704	81428174	70	75463											
SLITRK6	84189	broad.mit.edu	37	chr13	86368299	86368299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctccatatcaggctggAgctgagcaatgtttttcctt	10	10	1	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr13:86368299A>G	uc001vll.1	-	2	2804	c.2345T>C	c.(2344-2346)CTC>CCC	p.L782P	SLITRK6_uc010afe.1_Missense_Mutation_p.L235P	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	782	Cytoplasmic (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATCAGGCTGGAGCTGAGCAAT	0.423													G	86368299	A	G	86368299	3	3	126	1	0	0	0	0	1	0	0	0	14747	304	11	3	184	3	SLITRK6	13	86368299	Missense_Mutation	SNP	A	TCGA-BR-A4J8-01A-11D-A25D-08	52626595	86368299	28801579	71	75464											
RTN1	6252	broad.mit.edu	37	chr14	60063484	60063484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcagcatgcctcttagcGcctgggattttagcctgaat	9	11	2	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr14:60063484G>A	uc001xen.1	-	9	2519	c.2310C>T	c.(2308-2310)GGC>GGT	p.G770G	RTN1_uc001xem.1_Silent_p.G350G|RTN1_uc001xek.1_Silent_p.G202G|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Silent_p.G187G	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	770	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCCTCTTAGCGCCTGGGATTT	0.393													A	60063484	G	A	60063484	2	1	126	1	0	0	0	0	0	0	0	1	13725	1074	38	1		1	RTN1	14	60063484	Silent	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08		60063484	47286056	72	75465											
TTLL5	23093	broad.mit.edu	37	chr14	76149995	76149995	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cacaaaaagttaatcactttCccaggtaatgctctttgtag	6	9	2	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr14:76149995C>G	uc001xrx.2	+	5	572	c.367C>G	c.(367-369)CCC>GCC	p.P123A	TTLL5_uc001xrw.1_Missense_Mutation_p.P123A|TTLL5_uc010ask.1_Missense_Mutation_p.P123A|TTLL5_uc001xrv.2_Missense_Mutation_p.P123A	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	123	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		TAATCACTTTCCCAGGTAATG	0.423													G	76149995	C	G	76149995	3	3	126	1	0	0	0	0	1	0	0	0	16727	855	30	5	381	5	TTLL5	14	76149995	Missense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	16086511	76149995	31199545	73	75466											
CATSPERB	79820	broad.mit.edu	37	chr14	92195816	92195816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgaaacatatataagtggcGattccatctgttggaataaa	8	6	1	1	rs142347440	byFrequency	TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr14:92195816G>A	uc001xzs.1	-	2	148	c.8C>T	c.(7-9)TCG>TTG	p.S3L		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	3					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TATAAGTGGCGATTCCATCTG	0.264													A	92195816	G	A	92195816	3	1	126	1	0	0	0	0	1	0	0	0	2691	1059	37	1	3446	1	CATSPERB	14	92195816	Missense_Mutation	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	16045821	92195816	15153724	74	75467											
CCPG1	9236	broad.mit.edu	37	chr15	55742448	55742448	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgctacttgtgattcaCgaagagctgttgggaatact	10	8	2	2			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr15:55742448C>T	uc002acy.2	-	5	1010	c.-407G>A	c.(-409--405)TCGTG>TCATG		DYX1C1_uc010ugh.1_RNA|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Missense_Mutation_p.R252H|DYX1C1_uc002adc.2_Missense_Mutation_p.R252H|DYX1C1_uc002add.2_Missense_Mutation_p.R252H	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2						cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)		TTGTGATTCACGAAGAGCTGT	0.343													T	55742448	C	T	55742448	1	4	126	1	0	0	0	0	0	0	0	0	2938	536	19	1		1	CCPG1	15	55742448	Translation_Start_Site	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08		55742448	46788944	75	75468											
SGK269	79834	broad.mit.edu	37	chr15	77472426	77472426	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggaactccgagcataagTtggctcgtcatgaatgataa	10	7	1	2			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr15:77472426T>C	uc002bcm.2	-	3	2151	c.1843A>G	c.(1843-1845)ACT>GCT	p.T615A	SGK269_uc002bcn.2_Missense_Mutation_p.T615A	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	615					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		CGAGCATAAGTTGGCTCGTCA	0.348													C	77472426	T	C	77472426	3	2	126	1	0	0	0	0	1	0	0	0	14211	1725	60	3	3413	3	SGK269	15	77472426	Missense_Mutation	SNP	T	TCGA-BR-A4J8-01A-11D-A25D-08	21729978	77472426	25058966	76	75469											
AXIN1	8312	broad.mit.edu	37	chr16	354351	354351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttctcctcggcctcccGcgtgcgctgcacagcctcca	9	20	1	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr16:354351G>A	uc002cgp.1	-	5	1384	c.1207C>T	c.(1207-1209)CGG>TGG	p.R403W	AXIN1_uc002cgq.1_Missense_Mutation_p.R403W	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	403	Interaction with GSK3B (By similarity).				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TCGGCCTCCCGCGTGCGCTGC	0.687													A	354351	G	A	354351	3	1	126	1	0	0	0	0	1	0	0	0	1236	1086	38	1	1409	1	AXIN1	16	354351	Missense_Mutation	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08		354351	90000402	77	75470											
TELO2	9894	broad.mit.edu	37	chr16	1552705	1552705	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagaagacctgtgtggtgggAtttgcagggctgcgccagag	18	7	0	3			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr16:1552705A>T	uc002cly.2	+	14	2004	c.1713A>T	c.(1711-1713)GGA>GGT	p.G571G		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	TEL2, telomere maintenance 2, homolog	571						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding				0		Hepatocellular(780;0.219)				GTGTGGTGGGATTTGCAGGGC	0.672													T	1552705	A	T	1552705	2	4	126	1	0	0	0	0	0	0	0	1	15754	320	12	5		5	TELO2	16	1552705	Silent	SNP	A	TCGA-BR-A4J8-01A-11D-A25D-08	1198354	1552705	88802048	78	75471											
CIITA	4261	broad.mit.edu	37	chr16	11001727	11001727	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgcttgcgaggtaccTgaagcggctgcagccgggga	18	9	0	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr16:11001727T>A	uc002dai.3	+	11	2511	c.2378T>A	c.(2377-2379)CTG>CAG	p.L793Q	CIITA_uc002daj.3_Missense_Mutation_p.L794Q|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.L793Q|CIITA_uc002dah.2_Missense_Mutation_p.L745Q|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	793					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						GCGAGGTACCTGAAGCGGCTG	0.692			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								A	11001727	T	A	11001727	3	1	126	1	0	0	0	0	1	0	0	0	3428	1580	55	5	2420	5	CIITA	16	11001727	Missense_Mutation	SNP	T	TCGA-BR-A4J8-01A-11D-A25D-08	9449022	11001727	79353026	79	75472											
GPT2	84706	broad.mit.edu	37	chr16	46960947	46960947	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agggaaggcacttaccacttCaggtatgacttcctctccgc	9	13	2	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr16:46960947C>T	uc002eel.2	+	11	1573	c.1479C>T	c.(1477-1479)TTC>TTT	p.F493F	GPT2_uc002eem.2_Silent_p.F393F|GPT2_uc002een.2_Silent_p.F136F	NM_133443	NP_597700	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase 2 isoform 1	493					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)|skin(1)	2		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTTACCACTTCAGGTATGACT	0.552													T	46960947	C	T	46960947	2	4	126	1	0	0	0	0	0	0	0	1	6738	825	29	4		4	GPT2	16	46960947	Silent	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	35959220	46960947	43393806	80	75473											
PLCG2	5336	broad.mit.edu	37	chr16	81944245	81944245	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcatccagcactaccgCgagacgcacctgcgctgcgc	10	19	1	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr16:81944245C>T	uc002fgt.2	+	18	2006	c.1854C>T	c.(1852-1854)CGC>CGT	p.R618R	PLCG2_uc010chg.1_Silent_p.R618R	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	618	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						AGCACTACCGCGAGACGCACC	0.627													T	81944245	C	T	81944245	2	4	126	1	0	0	0	0	0	0	0	1	12036	755	27	1		1	PLCG2	16	81944245	Silent	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	34983298	81944245	8410508	81	75474											
TP53	7157	broad.mit.edu	37	chr17	7578266	7578267	+	Frame_Shift_Ins	INS	-	-	A													aaatttccttccactcggatINSaagatgctgaggaggggcca							TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr17:7578266_7578267insA	uc002gim.2	-	6	776_777	c.582_583insT	c.(580-585)CTTATCfs	p.L194fs	TP53_uc002gig.1_Frame_Shift_Ins_p.L194fs|TP53_uc002gih.2_Frame_Shift_Ins_p.L194fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.L62fs|TP53_uc010cng.1_Frame_Shift_Ins_p.L62fs|TP53_uc002gii.1_Frame_Shift_Ins_p.L62fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.L194fs|TP53_uc010cni.1_Frame_Shift_Ins_p.L194fs|TP53_uc002gij.2_Frame_Shift_Ins_p.L194fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Ins_p.L101fs|TP53_uc002gio.2_Frame_Shift_Ins_p.L62fs|TP53_uc010vug.1_Frame_Shift_Ins_p.L155fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	194_195	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|I -> N (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L194R(31)|p.L194F(16)|p.I195F(16)|p.L194P(8)|p.0?(7)|p.L194H(5)|p.L194L(4)|p.A189_V197delAPPQHLIRV(4)|p.L194fs*15(2)|p.K164_P219del(1)|p.L194V(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.I195fs*12(1)|p.I195L(1)|p.I195fs*50(1)|p.L194fs*14(1)|p.L194fs*52(1)|p.?(1)|p.I195fs*14(1)|p.I195_G199delIRVEG(1)|p.L194I(1)|p.I195fs*52(1)|p.H193_I195>AP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCCACTCGGATAAGATGCTGAG	0.554		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7578267	-	A	7578266	7	5	126	1	0	1	1	0	0	0	0	0	16378	1406	49	0	711	0	TP53	17	7578266	Frame_Shift_Ins	INS	-	TCGA-BR-A4J8-01A-11D-A25D-08		7578266	73616944	82	75475	340	2									
TP53	7157	broad.mit.edu	37	chr17	7578267	7578268	+	Frame_Shift_Ins	INS	-	-	A													aatttccttccactcggataINSagatgctgaggaggggccag							TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr17:7578266_7578267T>TA	uc002gim.2	-	5	776_777	c.582_583A>TA	c.(580-585)cttatcfs	p.L194fs	TP53_uc002gig.1_Frame_Shift_Ins_p.L194fs|TP53_uc002gih.3_Frame_Shift_Ins_p.L194fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Ins_p.L62fs|TP53_uc010cnf.1_Frame_Shift_Ins_p.L62fs|TP53_uc002gii.1_Frame_Shift_Ins_p.L62fs|TP53_uc010cni.1_Frame_Shift_Ins_p.L194fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.L194fs|TP53_uc002gij.2_Frame_Shift_Ins_p.L194fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Ins_p.L101fs|TP53_uc002gio.2_Frame_Shift_Ins_p.L62fs|TP53_uc010vug.2_Frame_Shift_Ins_p.L155fs|DL476358_uc021tph.1_Splice_Site	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(72)|p.I195T(67)|p.I195F(38)|p.L194R(37)|p.H193L(35)|p.H193Y(27)|p.L194F(18)|p.H193P(14)|p.I195N(12)|p.H193D(9)|p.L194P(8)|p.L194L(8)|p.I195fs*52(8)|p.I195fs*14(8)|p.A189_V197delAPPQHLIRV(8)|p.0?(8)|p.I195S(6)|p.?(6)|p.L194H(6)|p.P191_E198>Q(4)|p.H193N(4)|p.H193fs*16(3)|p.H193_I195delHLI(2)|p.I195fs*12(2)|p.I195fs*50(2)|p.L194fs*15(2)|p.L194fs*14(2)|p.H193H(2)|p.I195_G199delIRVEG(2)|p.I195L(2)|p.L194fs*52(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.P191fs*6(1)|p.I102fs*52(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195M(1)|p.I102F(1)|p.P98_E105>Q(1)|p.I63F(1)|p.I63fs*>28(1)|p.L194I(1)|p.I63fs*14(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCCACTCGGATAAGATGCTGAG	0.554		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7578268	-	A	7578267	7	5	126	1	0	1	1	0	0	0	0	0	16378	349	13	0	712	0	TP53	17	7578267	Frame_Shift_Ins	INS	-	TCGA-BR-A4J8-01A-11D-A25D-08	1	7578267	73616943	83	75476	340	2									
TOM1L2	146691	broad.mit.edu	37	chr17	17787971	17787971	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggtgtgtgtatgggagAcagagcgtccaagtctgcca	15	8	1	2			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr17:17787971A>C	uc002grz.3	-	5	635	c.478T>G	c.(478-480)TCT>GCT	p.S160A	TOM1L2_uc002gry.3_Missense_Mutation_p.S110A|TOM1L2_uc010vwy.1_Missense_Mutation_p.S160A|TOM1L2_uc010cpr.2_Intron|TOM1L2_uc010vwz.1_Intron|TOM1L2_uc010vxa.1_Intron|TOM1L2_uc010vxb.1_Missense_Mutation_p.S110A	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 isoform 3	160					intracellular protein transport	intracellular					0	all_neural(463;0.228)					TGTATGGGAGACAGAGCGTCC	0.542													C	17787971	A	C	17787971	3	2	126	1	0	0	0	0	1	0	0	0	16350	275	10	5	1089	5	TOM1L2	17	17787971	Missense_Mutation	SNP	A	TCGA-BR-A4J8-01A-11D-A25D-08	10209704	17787971	63407239	84	75477											
MYO15A	51168	broad.mit.edu	37	chr17	18023036	18023036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggtacacctacggctacGgctacgacgattacgaaccc	11	14	0	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr17:18023036G>A	uc010vxh.1	+	2	1260	c.922G>A	c.(922-924)GGC>AGC	p.G308S		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	308	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.G308D(1)		skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CTACGGCTACGGCTACGACGA	0.617													A	18023036	G	A	18023036	3	1	126	1	0	0	0	0	1	0	0	0	10063	1116	39	1	924	1	MYO15A	17	18023036	Missense_Mutation	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	235065	18023036	63172174	85	75478											
KCNJ12	3768	broad.mit.edu	37	chr17	21318662	21318662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaacccccgggatgaccgCggccagccgggccaacccct	11	21	0	1	rs143653481	byFrequency	TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr17:21318662C>T	uc002gyv.1	+	3	713	c.8C>T	c.(7-9)GCG>GTG	p.A3V		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	3	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	GGGATGACCGCGGCCAGCCGG	0.692										Prostate(3;0.18)			T	21318662	C	T	21318662	3	4	126	1	0	0	0	0	1	0	0	0	8046	768	27	1	10	1	KCNJ12	17	21318662	Missense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	3295626	21318662	59876548	86	75479											
FZD2	2535	broad.mit.edu	37	chr17	42636454	42636454	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcatcggcgtcttctcCgtgctctacacagtgcccgc	11	16	3	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr17:42636454C>T	uc002igx.1	+	1	1530	c.1398C>T	c.(1396-1398)TCC>TCT	p.S466S		NM_001466	NP_001457	Q14332	FZD2_HUMAN	frizzled 2 precursor	466	Helical; Name=6; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCGTCTTCTCCGTGCTCTACA	0.627													T	42636454	C	T	42636454	2	4	126	1	0	0	0	0	0	0	0	1	6130	639	23	1		1	FZD2	17	42636454	Silent	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	21317792	42636454	38558756	87	75480											
C17orf104	284071	broad.mit.edu	37	chr17	42744852	42744852	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaactatcatccacaaacTtaaccccaaatagcaattta	1	14	1	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr17:42744852T>G	uc010czv.2	+	5	1573	c.1573T>G	c.(1573-1575)TTA>GTA	p.L525V	C17orf104_uc002igy.1_Missense_Mutation_p.L359V|C17orf104_uc002igz.3_Missense_Mutation_p.L359V|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Missense_Mutation_p.L359V	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN	hypothetical protein LOC284071	525										central_nervous_system(1)	1						ATCCACAAACTTAACCCCAAA	0.338													G	42744852	T	G	42744852	3	3	126	1	0	0	0	0	1	0	0	0	1851	1606	56	5	1591	5	C17orf104	17	42744852	Missense_Mutation	SNP	T	TCGA-BR-A4J8-01A-11D-A25D-08	108398	42744852	38450358	88	75481											
MARCH10	162333	broad.mit.edu	37	chr17	60813998	60813998	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcattgacaccaacctcttGtctgggctcggatttggtgt	11	10	2	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr17:60813998G>T	uc010ddr.2	-	6	1469	c.1231C>A	c.(1231-1233)CAA>AAA	p.Q411K	MARCH10_uc002jag.3_Missense_Mutation_p.Q411K|MARCH10_uc010dds.2_Missense_Mutation_p.Q449K|MARCH10_uc002jah.2_Missense_Mutation_p.Q410K|uc002jaj.1_RNA|uc002jak.2_RNA	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN	ring finger protein 190	411							ligase activity|zinc ion binding				0						CCAACCTCTTGTCTGGGCTCG	0.478													T	60813998	G	T	60813998	3	4	126	1	0	0	0	0	1	0	0	0	9299	1386	48	5	1219	5	MARCH10	17	60813998	Missense_Mutation	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	18069146	60813998	20381212	89	75482											
KCNJ2	3759	broad.mit.edu	37	chr17	68172062	68172062	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacaacgcagactttgaaatCgtggtcatactggaaggcat	11	8	1	2			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr17:68172062C>T	uc010dfg.2	+	2	1283	c.882C>T	c.(880-882)ATC>ATT	p.I294I	KCNJ2_uc002jir.2_Silent_p.I294I	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	294	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)					ACTTTGAAATCGTGGTCATAC	0.453													T	68172062	C	T	68172062	2	4	126	1	0	0	0	0	0	0	0	1	8051	874	31	1		1	KCNJ2	17	68172062	Silent	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	7358064	68172062	13023148	90	75483											
EPB41L3	23136	broad.mit.edu	37	chr18	5397408	5397408	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctctattccactggactcCgtcttggtttccattttctg	7	12	3	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr18:5397408C>T	uc002kmt.1	-	18	2576	c.2490G>A	c.(2488-2490)ACG>ACA	p.T830T	EPB41L3_uc010wzh.1_Silent_p.T661T|EPB41L3_uc002kmu.1_Silent_p.T608T|EPB41L3_uc010dkq.1_Silent_p.T499T|EPB41L3_uc002kms.1_Silent_p.T65T|EPB41L3_uc010wze.1_Silent_p.T135T|EPB41L3_uc010wzf.1_Silent_p.T127T|EPB41L3_uc010wzg.1_Silent_p.T102T|EPB41L3_uc010dkr.2_Silent_p.T222T	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	830	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						CACTGGACTCCGTCTTGGTTT	0.537													T	5397408	C	T	5397408	2	4	126	1	0	0	0	0	0	0	0	1	5154	639	23	1		1	EPB41L3	18	5397408	Silent	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08		5397408	72679840	91	75484											
ANKRD12	23253	broad.mit.edu	37	chr18	9258528	9258528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacagattcttgctagctgtAcactattatcagaaaaagac	6	8	2	3			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr18:9258528A>G	uc002knv.2	+	9	5520	c.5263A>G	c.(5263-5265)ACA>GCA	p.T1755A	ANKRD12_uc002knw.2_Missense_Mutation_p.T1732A|ANKRD12_uc002knx.2_Missense_Mutation_p.T1732A|ANKRD12_uc010dkx.1_Missense_Mutation_p.T1462A	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	1755						nucleus				ovary(2)|central_nervous_system(1)	3						TGCTAGCTGTACACTATTATC	0.368													G	9258528	A	G	9258528	3	3	126	1	0	0	0	0	1	0	0	0	640	391	14	3	5293	3	ANKRD12	18	9258528	Missense_Mutation	SNP	A	TCGA-BR-A4J8-01A-11D-A25D-08	3861120	9258528	68818720	92	75485											
KLHL14	57565	broad.mit.edu	37	chr18	30350466	30350466	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggtcacgtcgcaaaacagcTgcttcctccacagcaggttg	11	13	1	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr18:30350466T>A	uc002kxm.1	-	2	477	c.89A>T	c.(88-90)CAG>CTG	p.Q30L		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	30						cytosol|endoplasmic reticulum membrane				ovary(1)	1						GCAAAACAGCTGCTTCCTCCA	0.632													A	30350466	T	A	30350466	3	1	126	1	0	0	0	0	1	0	0	0	8370	1580	55	5	1829	5	KLHL14	18	30350466	Missense_Mutation	SNP	T	TCGA-BR-A4J8-01A-11D-A25D-08	21091938	30350466	47726782	93	75486											
CDH20	28316	broad.mit.edu	37	chr18	59166663	59166663	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcaatgacaatgagcccaAgttcctggacggaccttatg	9	11	1	2			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr18:59166663A>C	uc010dps.1	+	2	503	c.491A>C	c.(490-492)AAG>ACG	p.K164T	CDH20_uc002lif.2_Missense_Mutation_p.K158T	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	164	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				AATGAGCCCAAGTTCCTGGAC	0.498													C	59166663	A	C	59166663	3	2	126	1	0	0	0	0	1	0	0	0	3106	72	3	5	497	5	CDH20	18	59166663	Missense_Mutation	SNP	A	TCGA-BR-A4J8-01A-11D-A25D-08	28816197	59166663	18910585	94	75487											
OR1M1	125963	broad.mit.edu	37	chr19	9204308	9204308	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggccatctgccacccaTtgcactacgccaagatcatg	8	15	2	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr19:9204308T>C	uc010xkj.1	+	1	388	c.388T>C	c.(388-390)TTG>CTG	p.L130L		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3						CTGCCACCCATTGCACTACGC	0.547													C	9204308	T	C	9204308	2	2	126	1	0	0	0	0	0	0	0	1	10968	1490	52	3		3	OR1M1	19	9204308	Silent	SNP	T	TCGA-BR-A4J8-01A-11D-A25D-08		9204308	49924675	95	75488											
DDX39	10212	broad.mit.edu	37	chr19	14522340	14522340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgacgctgggcatgtacttgGaaaagcgctcatattccttg	11	9	1	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr19:14522340G>A	uc010xnp.1	-	4	452	c.407C>T	c.(406-408)TCC>TTC	p.S136F	DDX39_uc002myo.2_Missense_Mutation_p.S136F|DDX39_uc010dzl.2_RNA|DDX39_uc010dzm.1_Missense_Mutation_p.S136F	NM_005804	NP_005795	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39	136	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding				0						CATGTACTTGGAAAAGCGCTC	0.587													A	14522340	G	A	14522340	3	1	126	1	0	0	0	0	1	0	0	0	4357	1174	41	4	908	4	DDX39	19	14522340	Missense_Mutation	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	5318032	14522340	44606643	96	75489											
ZNF91	7644	broad.mit.edu	37	chr19	23542926	23542926	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttatcttatgtgtagtaaggGttgaggattggctaaaagct	12	3	1	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr19:23542926G>T	uc002nre.2	-	4	2968	c.2855C>A	c.(2854-2856)ACC>AAC	p.T952N	ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.T920N	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	952	C2H2-type 29.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGTAGTAAGGGTTGAGGATTG	0.393													T	23542926	G	T	23542926	3	4	126	1	0	0	0	0	1	0	0	0	18197	1261	44	5	724	5	ZNF91	19	23542926	Missense_Mutation	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	9020586	23542926	35586057	97	75490											
RALGAPB	57148	broad.mit.edu	37	chr20	37203564	37203564	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggagccagagttttAtacttcacttttccaggagg	11	9	1	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr20:37203564A>G	uc002xiw.2	+	30	4696	c.4439A>G	c.(4438-4440)TAT>TGT	p.Y1480C	RALGAPB_uc002xix.2_Missense_Mutation_p.Y1477C|RALGAPB_uc002xiy.1_Missense_Mutation_p.I949V|RALGAPB_uc002xiz.2_Missense_Mutation_p.Y1259C	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	1480					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						CCAGAGTTTTATACTTCACTT	0.468													G	37203564	A	G	37203564	3	3	126	1	0	0	0	0	1	0	0	0	13015	449	16	3	4553	3	RALGAPB	20	37203564	Missense_Mutation	SNP	A	TCGA-BR-A4J8-01A-11D-A25D-08		37203564	25821956	98	75491											
NCOA3	8202	broad.mit.edu	37	chr20	46254163	46254163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgatgatgttcaaaaagccGatgtatcttctacagggcag	10	7	3	2			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr20:46254163G>A	uc002xtk.2	+	5	500	c.295G>A	c.(295-297)GAT>AAT	p.D99N	NCOA3_uc010ght.1_Missense_Mutation_p.D99N|NCOA3_uc002xtl.2_Missense_Mutation_p.D99N|NCOA3_uc002xtm.2_Missense_Mutation_p.D99N|NCOA3_uc002xtn.2_Missense_Mutation_p.D99N|NCOA3_uc010zyc.1_5'Flank	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	99					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						TCAAAAAGCCGATGTATCTTC	0.363													A	46254163	G	A	46254163	3	1	126	1	0	0	0	0	1	0	0	0	10230	1058	37	1	305	1	NCOA3	20	46254163	Missense_Mutation	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	9050599	46254163	16771357	99	75492											
ZNFX1	57169	broad.mit.edu	37	chr20	47881369	47881369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgctccttccacccacccGcacaatgctggtcttctgac	7	17	2	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr20:47881369G>A	uc002xui.2	-	5	2282	c.2035C>T	c.(2035-2037)CGG>TGG	p.R679W		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	679							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCACCCACCCGCACAATGCTG	0.547													A	47881369	G	A	47881369	3	1	126	1	0	0	0	0	1	0	0	0	18202	1086	38	1	3761	1	ZNFX1	20	47881369	Missense_Mutation	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	1627206	47881369	15144151	100	75493											
EEF1A2	1917	broad.mit.edu	37	chr20	62126332	62126332	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccattttgttcacgcccacGatgagctgcttcacacccag	7	15	2	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr20:62126332G>A	uc002yfd.1	-	3	548	c.447C>T	c.(445-447)ATC>ATT	p.I149I	EEF1A2_uc002yfe.1_Silent_p.I149I|EEF1A2_uc010gkg.1_Silent_p.I149I	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	149						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TCACGCCCACGATGAGCTGCT	0.617													A	62126332	G	A	62126332	2	1	126	1	0	0	0	0	0	0	0	1	4924	1048	37	1		1	EEF1A2	20	62126332	Silent	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	14244963	62126332	899188	101	75494											
RRP1	8568	broad.mit.edu	37	chr21	45223595	45223595	+	Frame_Shift_Del	DEL	T	T	-													acacctcggcccctgaccagTgcccgagcaaaggcggccaa							TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr21:45223595delT	uc002zds.2	+	13	1419	c.1326delT	c.(1324-1326)AGTfs	p.S442fs	RRP1_uc010gpk.1_Frame_Shift_Del_p.S292fs|RRP1_uc010gpl.1_Frame_Shift_Del_p.S340fs|RRP1_uc010gpm.1_Frame_Shift_Del_p.S309fs	NM_003683	NP_003674	P56182	RRP1_HUMAN	ribosomal RNA processing 1 homolog	442					rRNA processing	nucleolus|preribosome, small subunit precursor					0				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		CCCTGACCAGTGCCCGAGCAA	0.682													-	45223595	T	-	45223595	7	5	126	1	0	1	0	1	0	0	0	0	13685	1693	59	0	1376	0	RRP1	21	45223595	Frame_Shift_Del	DEL	T	TCGA-BR-A4J8-01A-11D-A25D-08		45223595	2906300	102	75495											
TCN2	6948	broad.mit.edu	37	chr22	31022488	31022488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatggagaaaccattgagCtgaggctggttagctggtag	16	5	0	3			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr22:31022488C>T	uc003aip.1	+	9	1422	c.1264C>T	c.(1264-1266)CTG>TTG	p.L422L	TCN2_uc003aiq.1_Silent_p.L418L|TCN2_uc003air.1_Silent_p.L395L	NM_000355	NP_000346	P20062	TCO2_HUMAN	transcobalamin II precursor	422					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AACCATTGAGCTGAGGCTGGT	0.567													T	31022488	C	T	31022488	2	4	126	1	0	0	0	0	0	0	0	1	15704	796	28	2		2	TCN2	22	31022488	Silent	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08		31022488	20282078	103	75496											
SHOX	6473	broad.mit.edu	37	chrX	601735	601735	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctccctttggacacaggCgtcatcttgggcacagccaa	10	14	2	0	rs138998412		TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chrX:601735C>T	uc004cph.1	+	5	1237	c.546C>T	c.(544-546)GGC>GGT	p.G182G	SHOX_uc004cpi.2_Silent_p.G182G	NM_000451	NP_000442	O15266	SHOX_HUMAN	short stature homeobox isoform SHOXa	182					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGGACACAGGCGTCATCTTGG	0.597													T	601735	C	T	601735	2	4	126	1	0	0	0	0	0	0	0	1	14288	782	27	1		1	SHOX	23	601735	Silent	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08		601735	154668825	104	75497											
SHROOM2	357	broad.mit.edu	37	chrX	9862716	9862716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcaggcccaggccgcaggCgaccctcagggctcggagga	17	15	1	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chrX:9862716C>T	uc004csu.1	+	4	858	c.768C>T	c.(766-768)GGC>GGT	p.G256G		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	256					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				AGGCCGCAGGCGACCCTCAGG	0.672													T	9862716	C	T	9862716	2	4	126	1	0	0	0	0	0	0	0	1	14294	755	27	1		1	SHROOM2	23	9862716	Silent	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	9260981	9862716	145407844	105	75498											
XK	7504	broad.mit.edu	37	chrX	37586943	37586943	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatggagccttgcgctgcaAcatcctagccatcaaaatca	8	12	2	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chrX:37586943A>G	uc004ddq.2	+	3	645	c.563A>G	c.(562-564)AAC>AGC	p.N188S		NM_021083	NP_066569	P51811	XK_HUMAN	membrane transport protein XK	188	Helical; (Potential).				amino acid transport	integral to membrane	protein binding|transporter activity				0		all_lung(315;0.175)				TTGCGCTGCAACATCCTAGCC	0.473													G	37586943	A	G	37586943	3	3	126	1	0	0	0	0	1	0	0	0	17428	43	2	3	573	3	XK	23	37586943	Missense_Mutation	SNP	A	TCGA-BR-A4J8-01A-11D-A25D-08	27724227	37586943	117683617	106	75499											
RPS6KA6	27330	broad.mit.edu	37	chrX	83362033	83362033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgagcatttgcactggctGgcaaaccgggagaatctaat	12	8	1	2			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chrX:83362033G>A	uc004eej.1	-	14	1204	c.1127C>T	c.(1126-1128)CCA>CTA	p.P376L	RPS6KA6_uc011mqt.1_Missense_Mutation_p.P376L|RPS6KA6_uc011mqu.1_Missense_Mutation_p.P273L	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	376	AGC-kinase C-terminal.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						TGCACTGGCTGGCAAACCGGG	0.333													A	83362033	G	A	83362033	3	1	126	1	0	0	0	0	1	0	0	0	13655	1348	47	4	1146	4	RPS6KA6	23	83362033	Missense_Mutation	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	45775090	83362033	71908527	107	75500											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299308	125299308	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acggtgtcactcagccaggcGactgcgaagatccagtcctt	11	13	2	1			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chrX:125299308G>A	uc004euk.1	-	1	627	c.600C>T	c.(598-600)GTC>GTT	p.V200V		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	200	WD 2.									lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						TCAGCCAGGCGACTGCGAAGA	0.652													A	125299308	G	A	125299308	2	1	126	1	0	0	0	0	0	0	0	1	4265	1045	37	1		1	DCAF12L2	23	125299308	Silent	SNP	G	TCGA-BR-A4J8-01A-11D-A25D-08	41937275	125299308	29971252	108	75501											
GPR112	139378	broad.mit.edu	37	chrX	135426978	135426978	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaccacctacaccttcTaatttcctatccacatccag	1	16	2	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chrX:135426978T>C	uc004ezu.1	+	6	1404	c.1113T>C	c.(1111-1113)TCT>TCC	p.S371S	GPR112_uc010nsb.1_Silent_p.S166S|GPR112_uc010nsc.1_Silent_p.S138S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	371	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					CTACACCTTCTAATTTCCTAT	0.358													C	135426978	T	C	135426978	2	2	126	1	0	0	0	0	0	0	0	1	6629	1509	53	3		3	GPR112	23	135426978	Silent	SNP	T	TCGA-BR-A4J8-01A-11D-A25D-08	10127670	135426978	19843582	109	75502											
MAGEA10	4109	broad.mit.edu	37	chrX	151303075	151303075	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcaattctgtcctgggctcTctcttcctcatctttcaaag	7	13	6	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chrX:151303075T>A	uc004ffk.2	-	5	1426	c.1018A>T	c.(1018-1020)AGA>TGA	p.R340*	MAGEA10_uc004ffl.2_Nonsense_Mutation_p.R340*	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	340											0	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTGGGCTCTCTCTTCCTCA	0.473													A	151303075	T	A	151303075	4	1	126	1	0	0	0	0	0	1	0	0	9164	1559	54	5	95	5	MAGEA10	23	151303075	Nonsense_Mutation	SNP	T	TCGA-BR-A4J8-01A-11D-A25D-08	15876097	151303075	3967485	110	75503											
GABRQ	55879	broad.mit.edu	37	chrX	151820033	151820033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccatcgactcacatctgCgggataagctccccaacatt	6	16	2	0			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chrX:151820033C>T	uc004ffp.1	+	8	966	c.946C>T	c.(946-948)CGG>TGG	p.R316W		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	316						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CTCACATCTGCGGGATAAGCT	0.458													T	151820033	C	T	151820033	3	4	126	1	0	0	0	0	1	0	0	0	6175	759	27	1	976	1	GABRQ	23	151820033	Missense_Mutation	SNP	C	TCGA-BR-A4J8-01A-11D-A25D-08	516958	151820033	3450527	111	75504											
NPHP4	261734	broad.mit.edu	37	chr1	5951034	5951034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaaagcagcgccgctcaCctggcttcaggaacccaggg	14	14	2	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr1:5951034C>T	uc001alq.1	-	17	2464	c.2198G>A	c.(2197-2199)GGT>GAT	p.G733D	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA|NPHP4_uc009vlu.1_RNA	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	733					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCGCCGCTCACCTGGCTTCAG	0.602													T	5951034	C	T	5951034	3	4	127	1	0	0	0	0	1	0	0	0	10581	507	18	4	2138	4	NPHP4	1	5951034	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08		5951034	243299587	1	75505											
AMY2A	279	broad.mit.edu	37	chr1	104160603	104160603	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccaaatgaaaatgttgcaAtttacaaccctttcagacct	4	11	1	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr1:104160603A>G	uc001dut.2	+	2	260	c.196A>G	c.(196-198)ATT>GTT	p.I66V	AMY2A_uc010ouq.1_Missense_Mutation_p.I66V	NM_000699	NP_000690	P04746	AMYP_HUMAN	pancreatic amylase alpha 2A precursor	66					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			ovary(1)|skin(1)	2		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	AAATGTTGCAATTTACAACCC	0.343													G	104160603	A	G	104160603	3	3	127	1	0	0	0	0	1	0	0	0	594	101	4	3	202	3	AMY2A	1	104160603	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	98209569	104160603	145090018	2	75506											
SEC22B	9554	broad.mit.edu	37	chr1	145112423	145112423	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acattgacagttgtgctcgaAgaaacctaggctccatcaac	8	11	1	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr1:145112423A>C	uc001eml.1	+	6	537	c.397A>C	c.(397-399)AGA>CGA	p.R133R	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B	133	Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding				0						TTGTGCTCGAAGAAACCTAGG	0.413													C	145112423	A	C	145112423	2	2	127	1	0	0	0	0	0	0	0	1	13989	64	3	5		5	SEC22B	1	145112423	Silent	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	40951820	145112423	104138198	3	75507											
HIST2H2AC	8338	broad.mit.edu	37	chr1	149858569	149858569	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaggcccgcgccaaggcCaagtcgcgctcgtcccgcgc	14	18	0	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr1:149858569C>T	uc001etd.2	+	1	45	c.45C>T	c.(43-45)GCC>GCT	p.A15A	HIST2H2BE_uc001etc.2_5'Flank	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	15					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGCCAAGGCCAAGTCGCGCT	0.617													T	149858569	C	T	149858569	2	4	127	1	0	0	0	0	0	0	0	1	7178	581	21	4		4	HIST2H2AC	1	149858569	Silent	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	4746146	149858569	99392052	4	75508											
HRNR	388697	broad.mit.edu	37	chr1	152191301	152191301	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggactgccctgagctagacTtgtgaccaaagccagaagac	11	11	0	5			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr1:152191301T>C	uc001ezt.1	-	3	2880	c.2804A>G	c.(2803-2805)AAG>AGG	p.K935R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	935	10.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGCTAGACTTGTGACCAAA	0.582													C	152191301	T	C	152191301	3	2	127	1	0	0	0	0	1	0	0	0	7359	1609	56	3	5752	3	HRNR	1	152191301	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	2332732	152191301	97059320	5	75509											
FLG	2312	broad.mit.edu	37	chr1	152279828	152279828	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgagtttgtctgcttgcacTtctggatcctgagtgcccat	10	11	2	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr1:152279828T>G	uc001ezu.1	-	3	7570	c.7534A>C	c.(7534-7536)AGT>CGT	p.S2512R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2512	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTTGCACTTCTGGATCCT	0.562									Ichthyosis				G	152279828	T	G	152279828	3	3	127	1	0	0	0	0	1	0	0	0	5922	1609	56	5	4655	5	FLG	1	152279828	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	88527	152279828	96970793	6	75510											
LCE1A	353131	broad.mit.edu	37	chr1	152800031	152800031	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccaagtgccccactcctaAgtgccccccaaagtgtcccc	6	20	0	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr1:152800031A>G	uc010pdw.1	+	1	83	c.83A>G	c.(82-84)AAG>AGG	p.K28R		NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	28	Cys-rich.				keratinization					ovary(1)|skin(1)	2	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			cccactcctaagtgcccccca	0.423													G	152800031	A	G	152800031	3	3	127	1	0	0	0	0	1	0	0	0	8659	72	3	3	85	3	LCE1A	1	152800031	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	520203	152800031	96450590	7	75511											
IVL	3713	broad.mit.edu	37	chr1	152883259	152883259	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctaagcatctggagcagcAggaggggcaactggagcagc	16	10	1	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr1:152883259A>G	uc001fau.2	+	2	1032	c.986A>G	c.(985-987)CAG>CGG	p.Q329R		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	329	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].|18.				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(3)	3	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ctggagcagcaggaggggcaa	0.104													G	152883259	A	G	152883259	3	3	127	1	0	0	0	0	1	0	0	0	7929	188	7	3	988	3	IVL	1	152883259	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	83228	152883259	96367362	8	75512											
CACNA1E	777	broad.mit.edu	37	chr1	181620513	181620513	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacctggaattggctgtacTtcatccccctcatcatcatt	5	15	4	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr1:181620513T>G	uc001gow.2	+	7	1156	c.991T>G	c.(991-993)TTC>GTC	p.F331V	CACNA1E_uc009wxr.2_Missense_Mutation_p.F238V|CACNA1E_uc009wxs.2_Missense_Mutation_p.F238V	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	331	I.|Helical; Name=S6 of repeat I.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TTGGCTGTACTTCATCCCCCT	0.428													G	181620513	T	G	181620513	3	3	127	1	0	0	0	0	1	0	0	0	2542	1609	56	5	1017	5	CACNA1E	1	181620513	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	28737254	181620513	67630108	9	75513											
ZNF281	23528	broad.mit.edu	37	chr1	200378657	200378658	+	Frame_Shift_Ins	INS	-	-	G													gccgggtgaagctggtgaccINSgggggaagacggtggttgaa							TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr1:200378657_200378658insG	uc001gve.2	-	2	283_284	c.176_177insC	c.(175-177)CCGfs	p.P59fs	uc010ppi.1_5'Flank|ZNF281_uc001gvf.1_Frame_Shift_Ins_p.P59fs|ZNF281_uc001gvg.1_Intron	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	59					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)	2						AGCTGGTGACCGGGGGAAGACG	0.559													G	200378658	-	G	200378657	7	5	127	1	0	1	1	0	0	0	0	0	17815	639	23	0	2514	0	ZNF281	1	200378657	Frame_Shift_Ins	INS	-	TCGA-BR-A4PD-01A-11D-A25D-08	18758144	200378657	48871964	10	75514											
LMOD1	25802	broad.mit.edu	37	chr1	201868803	201868803	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtagcccagcttgagcagGgtagtattctccttcagcag	12	10	2	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr1:201868803G>T	uc001gxb.2	-	2	1586	c.1338C>A	c.(1336-1338)ACC>ACA	p.T446T	LMOD1_uc010ppu.1_Silent_p.T395T	NM_012134	NP_036266	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	446				T -> S (in Ref. 1; CAA38101).	muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			ovary(1)|pancreas(1)|skin(1)	3						GCTTGAGCAGGGTAGTATTCT	0.567													T	201868803	G	T	201868803	2	4	127	1	0	0	0	0	0	0	0	1	8856	1219	43	5		5	LMOD1	1	201868803	Silent	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08	1490146	201868803	47381818	11	75515											
SRGAP2	23380	broad.mit.edu	37	chr1	206592741	206592741	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggtcagcggacagattgCagtctagccaggtgagtgtg	15	8	2	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr1:206592741C>T	uc001hdy.2	+	9	1530	c.1197C>T	c.(1195-1197)TGC>TGT	p.C399C	SRGAP2_uc010prt.1_Silent_p.C322C|SRGAP2_uc001hdx.2_Silent_p.C399C|SRGAP2_uc010pru.1_Silent_p.C322C|SRGAP2_uc010prv.1_Silent_p.C323C	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	486					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)					GGACAGATTGCAGTCTAGCCA	0.512													T	206592741	C	T	206592741	2	4	127	1	0	0	0	0	0	0	0	1	15145	718	25	2		2	SRGAP2	1	206592741	Silent	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	4723938	206592741	42657880	12	75516											
MYT1L	23040	broad.mit.edu	37	chr2	1893197	1893197	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgtcccgcggcctctgcTtgttcatgctgaggtccagg	13	13	2	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr2:1893197T>G	uc002qxe.2	-	16	3163	c.2336A>C	c.(2335-2337)AAG>ACG	p.K779T	MYT1L_uc002qxd.2_Missense_Mutation_p.K777T|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	779					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CGGCCTCTGCTTGTTCATGCT	0.602													G	1893197	T	G	1893197	3	3	127	1	0	0	0	0	1	0	0	0	10107	1609	56	5	1264	5	MYT1L	2	1893197	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08		1893197	241306176	13	75517											
LTBP1	4052	broad.mit.edu	37	chr2	33500954	33500954	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccggtgtgaatactgtgacAgcgggtaccgcatgactcag	13	10	1	3			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr2:33500954A>G	uc002ros.2	+	18	2959	c.2959A>G	c.(2959-2961)AGC>GGC	p.S987G	LTBP1_uc002rot.2_Missense_Mutation_p.S661G|LTBP1_uc002rou.2_Missense_Mutation_p.S660G|LTBP1_uc002rov.2_Missense_Mutation_p.S607G|LTBP1_uc010ymz.1_Missense_Mutation_p.S660G|LTBP1_uc010yna.1_Missense_Mutation_p.S607G	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	986	EGF-like 6; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ATACTGTGACAGCGGGTACCG	0.577													G	33500954	A	G	33500954	3	3	127	1	0	0	0	0	1	0	0	0	9073	188	7	3	3081	3	LTBP1	2	33500954	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	31607757	33500954	209698419	14	75518											
SNRPG	6637	broad.mit.edu	37	chr2	70520772	70520772	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcaactcgggagggtgagCtttgctcatggtgtatactc	12	8	2	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr2:70520772C>A	uc002sgp.2	-	1	98	c.10G>T	c.(10-12)GCT>TCT	p.A4S	SNRPG_uc002sgo.2_5'Flank	NM_003096	NP_003087	P62308	RUXG_HUMAN	small nuclear ribonucleoprotein polypeptide G	4					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding				0						GGAGGGTGAGCTTTGCTCATG	0.572													A	70520772	C	A	70520772	3	1	127	1	0	0	0	0	1	0	0	0	14869	797	28	5	236	5	SNRPG	2	70520772	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	37019818	70520772	172678601	15	75519											
SMYD5	10322	broad.mit.edu	37	chr2	73453020	73453023	+	Frame_Shift_Del	DEL	GGAG	GGAG	-													gaagaggaagaggaggaggaGgaggaaggagagccagaaga							TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr2:73453019_73453022AGGAG>A	uc002siw.2	+	12	1231_1234	c.1202_1205AGGAG>A	c.(1201-1206)gaggagfs	p.E401fs	SMYD5_uc010yre.1_Frame_Shift_Del_p.E285fs	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	Homo sapiens SMYD family member 5 (SMYD5), mRNA.	401	Glu-rich.						metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						gaggaggaggaggaggaagGAGAG	0.544													-	73453023	GGAG	-	73453020	7	5	127	1	0	1	0	1	0	0	0	0	14825	991	35	0	1253	0	SMYD5	2	73453020	Frame_Shift_Del	DEL	GGAG	TCGA-BR-A4PD-01A-11D-A25D-08	2932248	73453020	169746353	16	75520											
EIF2AK3	9451	broad.mit.edu	37	chr2	88888295	88888295	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacgaattaagggtttccaTttgattgttggtaaaggaat	10	3	0	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr2:88888295T>G	uc002stc.3	-	7	1492	c.1290A>C	c.(1288-1290)AAA>AAC	p.K430N		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	430	Lumenal (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						AGGGTTTCCATTTGATTGTTG	0.363													G	88888295	T	G	88888295	3	3	127	1	0	0	0	0	1	0	0	0	4998	1490	52	5	2104	5	EIF2AK3	2	88888295	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	15435275	88888295	154311078	17	75521											
NEB	4703	broad.mit.edu	37	chr2	152522764	152522764	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatccagaggtgtgtggtacTtggtcttgctggcttcatag	13	7	2	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr2:152522764T>G	uc010fnx.2	-	41	5062	c.4871A>C	c.(4870-4872)AAG>ACG	p.K1624T		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1624					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTGTGGTACTTGGTCTTGCT	0.473													G	152522764	T	G	152522764	3	3	127	1	0	0	0	0	1	0	0	0	10302	1609	56	5	21383	5	NEB	2	152522764	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	63634469	152522764	90676609	18	75522											
XIRP2	129446	broad.mit.edu	37	chr2	168103939	168103939	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atggcaatttagtagaagaaAgaactgaggttaatcttcca	9	5	1	4			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr2:168103939A>T	uc002udx.2	+	8	6055	c.6037A>T	c.(6037-6039)AGA>TGA	p.R2013*	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.R1838*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.R1791*|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1838					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AGTAGAAGAAAGAACTGAGGT	0.448													T	168103939	A	T	168103939	4	4	127	1	0	0	0	0	0	1	0	0	17427	64	3	5	6067	5	XIRP2	2	168103939	Nonsense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	15581175	168103939	75095434	19	75523											
TTN	7273	broad.mit.edu	37	chr2	179584017	179584017	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagacgttttccgaaaagcTggactgacatttgggcccac	10	11	0	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr2:179584017T>G	uc010zfg.1	-	80	20592	c.20368A>C	c.(20368-20370)AGC>CGC	p.S6790R	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3451R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7717							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCGAAAAGCTGGACTGACAT	0.502													G	179584017	T	G	179584017	3	3	127	1	0	0	0	0	1	0	0	0	16732	1580	55	5	80549	5	TTN	2	179584017	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	11480078	179584017	63615356	20	75524											
ERBB4	2066	broad.mit.edu	37	chr2	212248447	212248447	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctctgccacaataggccggaTccgcccattctgtttataaa	7	13	2	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr2:212248447T>A	uc002veg.1	-	28	3918	c.3820A>T	c.(3820-3822)ATC>TTC	p.I1274F	ERBB4_uc002veh.1_Missense_Mutation_p.I1258F|ERBB4_uc010zji.1_Missense_Mutation_p.I1264F|ERBB4_uc010zjj.1_Missense_Mutation_p.I1248F	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1274	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATAGGCCGGATCCGCCCATTC	0.527										TSP Lung(8;0.080)			A	212248447	T	A	212248447	3	1	127	1	0	0	0	0	1	0	0	0	5209	1435	50	5	110	5	ERBB4	2	212248447	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	32664430	212248447	30950926	21	75525											
PAX3	5077	broad.mit.edu	37	chr2	223158949	223158949	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctttcctctgcctcctTcctctccaagtcggcctcct	5	20	2	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr2:223158949T>C	uc010fwo.2	-	4	889	c.523A>G	c.(523-525)AAG>GAG	p.K175E	PAX3_uc002vmt.1_Missense_Mutation_p.K175E|PAX3_uc002vmy.1_Missense_Mutation_p.K174E|PAX3_uc002vmv.1_Missense_Mutation_p.K175E|PAX3_uc002vmw.1_Missense_Mutation_p.K175E|PAX3_uc002vmx.1_Missense_Mutation_p.K175E|PAX3_uc002vmz.1_Missense_Mutation_p.K175E|PAX3_uc002vna.1_Missense_Mutation_p.K175E	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	175					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTGCCTCCTTCCTCTCCAAG	0.602			T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						C	223158949	T	C	223158949	3	2	127	1	0	0	0	0	1	0	0	0	11480	1792	62	3	1151	3	PAX3	2	223158949	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	10910502	223158949	20040424	22	75526											
AGFG1	3267	broad.mit.edu	37	chr2	228416831	228416831	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctttttctcaacagcccaAtggtaagatctaacatttgg	7	9	2	1	rs150263079		TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr2:228416831A>C	uc002vpc.2	+	11	1785	c.1535A>C	c.(1534-1536)AAT>ACT	p.N512T	AGFG1_uc002vpd.2_Missense_Mutation_p.N536T|AGFG1_uc002vpe.2_Missense_Mutation_p.N512T|AGFG1_uc002vpf.2_Missense_Mutation_p.N472T	NM_004504	NP_004495	P52594	AGFG1_HUMAN	HIV-1 Rev binding protein isoform 2	512					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4						CAACAGCCCAATGGTAAGATC	0.438													C	228416831	A	C	228416831	3	2	127	1	0	0	0	0	1	0	0	0	380	101	4	5	1653	5	AGFG1	2	228416831	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	5257882	228416831	14782542	23	75527											
ATG7	10533	broad.mit.edu	37	chr3	11348463	11348463	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccagctattggaacactgTataacaccaacacactcgag	7	13	0	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr3:11348463T>G	uc003bwc.2	+	4	379	c.262T>G	c.(262-264)TAT>GAT	p.Y88D	ATG7_uc003bwd.2_Missense_Mutation_p.Y88D|ATG7_uc011aum.1_Missense_Mutation_p.Y88D	NM_006395	NP_006386	O95352	ATG7_HUMAN	APG7 autophagy 7-like isoform a	88					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)	1						TGGAACACTGTATAACACCAA	0.498													G	11348463	T	G	11348463	3	3	127	1	0	0	0	0	1	0	0	0	1101	1638	57	5	272	5	ATG7	3	11348463	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08		11348463	186673967	24	75528											
VILL	50853	broad.mit.edu	37	chr3	38040404	38040406	+	In_Frame_Del	DEL	GCT	GCT	-													acgatgccttccgccccaggGcttcatccaggccaagggct							TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr3:38040404_38040406delGCT	uc003chj.2	+	10	1230_1232	c.944_946delGCT	c.(943-948)GGCTTC>GTC	p.315_316GF>V	VILL_uc003chl.2_In_Frame_Del_p.315_316GF>V|VILL_uc010hgu.2_In_Frame_Del_p.145_146GF>V	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	315_316					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCGCCCCAGGGCTTCATCCAGGC	0.65													-	38040406	GCT	-	38040404	7	5	127	1	0	1	0	1	0	0	0	0	17162	1217	42	0	978	0	VILL	3	38040404	In_Frame_Del	DEL	GCT	TCGA-BR-A4PD-01A-11D-A25D-08	26691941	38040404	159982026	25	75529											
OR5AC2	81050	broad.mit.edu	37	chr3	97806523	97806523	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttactattgcgactaacTttctgcaggtttaacataat	6	7	1	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr3:97806523T>G	uc011bgs.1	+	1	507	c.507T>G	c.(505-507)ACT>ACG	p.T169T		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC,	169	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TGCGACTAACTTTCTGCAGGT	0.338													G	97806523	T	G	97806523	2	3	127	1	0	0	0	0	0	0	0	1	11141	1596	56	5		5	OR5AC2	3	97806523	Silent	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	59766119	97806523	100215907	26	75530											
POLQ	10721	broad.mit.edu	37	chr3	121255950	121255950	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttatttcacgtacttaccaaGatgctgatttccgagtaata	6	8	1	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr3:121255950G>A	uc003eee.3	-	5	866	c.737C>T	c.(736-738)TCT>TTT	p.S246F		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	246	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TACTTACCAAGATGCTGATTT	0.388								DNA_polymerases_(catalytic_subunits)					A	121255950	G	A	121255950	3	1	127	1	0	0	0	0	1	0	0	0	12208	942	33	4	7139	4	POLQ	3	121255950	Missense_Mutation	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08	23449427	121255950	76766480	27	75531											
ASTE1	28990	broad.mit.edu	37	chr3	130743848	130743848	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acagaaagggaatgggccatCtggatcttctctctagctct	10	10	5	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr3:130743848C>A	uc003env.1	-	3	745	c.303G>T	c.(301-303)CAG>CAT	p.Q101H	NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Missense_Mutation_p.Q101H|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	101					DNA repair		nuclease activity				0						AATGGGCCATCTGGATCTTCT	0.418													A	130743848	C	A	130743848	3	1	127	1	0	0	0	0	1	0	0	0	1062	912	32	5	1752	5	ASTE1	3	130743848	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	9487898	130743848	67278582	28	75532											
PIK3CB	5291	broad.mit.edu	37	chr3	138382756	138382757	+	Frame_Shift_Ins	INS	-	-	T													gagcagctcacctggccagtINSttttttgaccatgatgttgt							TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr3:138382755_138382756G>GT	uc011bmq.2	-	18	2788_2789	c.2788_2789C>AC	c.(2788-2790)actfs	p.T930fs	PIK3CB_uc011bmn.2_Frame_Shift_Ins_p.T442fs|PIK3CB_uc011bmo.2_Frame_Shift_Ins_p.T381fs|PIK3CB_uc011bmp.2_Frame_Shift_Ins_p.T517fs	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	930	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CACCTGGCCAGTTTTTTTGACC	0.441													T	138382757	-	T	138382756	7	5	127	1	0	1	1	0	0	0	0	0	11914	1725	60	0	438	0	PIK3CB	3	138382756	Frame_Shift_Ins	INS	-	TCGA-BR-A4PD-01A-11D-A25D-08	7638908	138382756	59639674	29	75533											
CLSTN2	64084	broad.mit.edu	37	chr3	140277549	140277549	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgtgatggtcctccaggccAtcgagccccggatcaccctc	10	16	1	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr3:140277549A>T	uc003etn.2	+	12	2081	c.1891A>T	c.(1891-1893)ATC>TTC	p.I631F		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	631	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						CCTCCAGGCCATCGAGCCCCG	0.552										HNSCC(16;0.037)			T	140277549	A	T	140277549	3	4	127	1	0	0	0	0	1	0	0	0	3562	217	8	5	1937	5	CLSTN2	3	140277549	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	1894793	140277549	57744881	30	75534											
NAALADL2	254827	broad.mit.edu	37	chr3	174814732	174814732	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggttttgaccaattccagCtagacggtgctgagaatcag	11	9	1	3			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr3:174814732C>A	uc003fit.2	+	2	283	c.196C>A	c.(196-198)CTA>ATA	p.L66I	NAALADL2_uc003fiu.1_Missense_Mutation_p.L59I	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	66	Cytoplasmic (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CCAATTCCAGCTAGACGGTGC	0.468													A	174814732	C	A	174814732	3	1	127	1	0	0	0	0	1	0	0	0	10130	796	28	5	202	5	NAALADL2	3	174814732	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	34537183	174814732	23207698	31	75535											
SLIT2	9353	broad.mit.edu	37	chr4	20597367	20597367	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaacactgcgacatcgattTtgacgactgccaagacaaca	8	11	0	3			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr4:20597367T>G	uc003gpr.1	+	31	3434	c.3230T>G	c.(3229-3231)TTT>TGT	p.F1077C	SLIT2_uc003gps.1_Missense_Mutation_p.F1069C	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1077	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						GACATCGATTTTGACGACTGC	0.473													G	20597367	T	G	20597367	3	3	127	1	0	0	0	0	1	0	0	0	14740	1841	64	5	3352	5	SLIT2	4	20597367	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08		20597367	170556909	32	75536											
NSUN7	79730	broad.mit.edu	37	chr4	40752722	40752722	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggggcagacatgctgaattcCacgggcgaactggagttttc	14	9	0	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr4:40752722C>G	uc003gvj.3	+	2	507	c.12C>G	c.(10-12)TCC>TCG	p.S4S	NSUN7_uc003gvh.2_Silent_p.S4S|NSUN7_uc003gvi.3_Silent_p.S4S	NM_024677	NP_078953			NOL1/NOP2/Sun domain family, member 7												0						TGCTGAATTCCACGGGCGAAC	0.562													G	40752722	C	G	40752722	2	3	127	1	0	0	0	0	0	0	0	1	10683	581	21	5		5	NSUN7	4	40752722	Silent	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	20155355	40752722	150401554	33	75537											
GABRA4	2557	broad.mit.edu	37	chr4	46967016	46967016	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcaggatgcttctctcTctgcactggagcagcgggaa	13	11	3	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr4:46967016T>C	uc003gxg.2	-	8	1244	c.1105A>G	c.(1105-1107)AGA>GGA	p.R369G		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	369	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGCTTCTCTCTCTGCACTGGA	0.428													C	46967016	T	C	46967016	3	2	127	1	0	0	0	0	1	0	0	0	6163	1559	54	3	567	3	GABRA4	4	46967016	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	6214294	46967016	144187260	34	75538											
ATP10D	57205	broad.mit.edu	37	chr4	47574206	47574206	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgttagcatgatacaagtgGcagacattgggataggggtc	14	5	0	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr4:47574206G>T	uc003gxk.1	+	17	3363	c.3199G>T	c.(3199-3201)GCA>TCA	p.A1067S	ATP10D_uc003gxl.1_Missense_Mutation_p.A315S	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1067	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						GATACAAGTGGCAGACATTGG	0.468													T	47574206	G	T	47574206	3	4	127	1	0	0	0	0	1	0	0	0	1118	1203	42	5	3261	5	ATP10D	4	47574206	Missense_Mutation	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08	607190	47574206	143580070	35	75539											
OCIAD2	132299	broad.mit.edu	37	chr4	48894870	48894870	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctggcatactcctatgtatGatacctttccaaggccaaat	6	11	1	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr4:48894870G>A	uc003gyt.2	-	6	505	c.302C>T	c.(301-303)TCA>TTA	p.S101L	OCIAD2_uc003gyu.2_Intron	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2 isoform 1	101	OCIA.					endosome					0						TCCTATGTATGATACCTTTCC	0.408													A	48894870	G	A	48894870	3	1	127	1	0	0	0	0	1	0	0	0	10818	1294	45	4	170	4	OCIAD2	4	48894870	Missense_Mutation	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08	1320664	48894870	142259406	36	75540											
ODAM	54959	broad.mit.edu	37	chr4	71063822	71063822	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagcccaggcaggccaagTtgatcccttacagcttcaaa	10	12	1	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr4:71063822T>G	uc003hfc.2	+	4	340	c.323T>G	c.(322-324)GTT>GGT	p.V108G		NM_017855	NP_060325	A1E959	ODAM_HUMAN	odontogenic ameloblast-associated protein	108	Gln-rich.				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				ovary(3)|large_intestine(1)	4						GCAGGCCAAGTTGATCCCTTA	0.507													G	71063822	T	G	71063822	3	3	127	1	0	0	0	0	1	0	0	0	10824	1725	60	5	337	5	ODAM	4	71063822	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	22168952	71063822	120090454	37	75541											
MOBKL1A	92597	broad.mit.edu	37	chr4	71844993	71844993	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatacatctttcaagcacttTattttttttgtccaggtaag	5	7	2	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr4:71844993T>C	uc003hfw.2	+	5	748	c.558T>C	c.(556-558)TTT>TTC	p.F186F	MOBKL1A_uc011cba.1_Silent_p.F191F	NM_173468	NP_775739	Q7L9L4	MOL1A_HUMAN	MOB1, Mps One Binder kinase activator-like 1A	186					hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding				0		all_hematologic(202;0.21)	Lung(101;0.235)			TCAAGCACTTTATTTTTTTTG	0.393													C	71844993	T	C	71844993	2	2	127	1	0	0	0	0	0	0	0	1	9682	1751	61	3		3	MOBKL1A	4	71844993	Silent	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	781171	71844993	119309283	38	75542											
AGXT2L1	64850	broad.mit.edu	37	chr4	109667632	109667632	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acataggtggttttattttaAgtacatttctatgaggtcca	8	5	1	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr4:109667632A>C	uc003hzc.2	-	11	1407	c.1226T>G	c.(1225-1227)CTT>CGT	p.L409R	AGXT2L1_uc010imc.2_Missense_Mutation_p.L403R|AGXT2L1_uc011cfm.1_Missense_Mutation_p.L369R|AGXT2L1_uc011cfn.1_Missense_Mutation_p.L336R|AGXT2L1_uc011cfo.1_Missense_Mutation_p.L351R	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	alanine-glyoxylate aminotransferase 2-like 1	409					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		TTTTATTTTAAGTACATTTCT	0.388													C	109667632	A	C	109667632	3	2	127	1	0	0	0	0	1	0	0	0	406	72	3	5	285	5	AGXT2L1	4	109667632	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	37822639	109667632	81486644	39	75543											
ODZ3	55714	broad.mit.edu	37	chr4	183714423	183714423	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagatggtttcctacgtcaaAggggcacggaaatctttgaa	11	7	2	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr4:183714423A>G	uc003ivd.1	+	25	6635	c.6598A>G	c.(6598-6600)AGG>GGG	p.R2200G		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2200	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CCTACGTCAAAGGGGCACGGA	0.507													G	183714423	A	G	183714423	3	3	127	1	0	0	0	0	1	0	0	0	10836	63	3	3	6696	3	ODZ3	4	183714423	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	74046791	183714423	7439853	40	75544											
ADAMTS12	81792	broad.mit.edu	37	chr5	33637847	33637847	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaatatttccctccaaactTtggcctgcaaatgaaacaga	6	11	0	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr5:33637847T>C	uc003jia.1	-	12	1886	c.1723A>G	c.(1723-1725)AAG>GAG	p.K575E	ADAMTS12_uc010iuq.1_Missense_Mutation_p.K575E	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	575	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						CCTCCAAACTTTGGCCTGCAA	0.463										HNSCC(64;0.19)			C	33637847	T	C	33637847	3	2	127	1	0	0	0	0	1	0	0	0	257	1850	64	3	3113	3	ADAMTS12	5	33637847	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08		33637847	147277413	41	75545											
TBCA	6902	broad.mit.edu	37	chr5	77004071	77004071	+	Frame_Shift_Del	DEL	T	T	-													tatgatataattttacctgcTttttaatgtcataattttca							TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr5:77004071delT	uc003kfh.1	-	2	259	c.155delA	c.(154-156)AAGfs	p.K52fs	TBCA_uc003kfi.1_Frame_Shift_Del_p.K52fs	NM_004607	NP_004598	O75347	TBCA_HUMAN	tubulin-specific chaperone a	52					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly	cytoplasm|microtubule	chaperone binding|unfolded protein binding			ovary(1)	1		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		TTTTACCTGCTTTTTAATGTC	0.284													-	77004071	T	-	77004071	7	5	127	1	0	1	0	1	0	0	0	0	15626	1609	56	0	183	0	TBCA	5	77004071	Frame_Shift_Del	DEL	T	TCGA-BR-A4PD-01A-11D-A25D-08	43366224	77004071	103911189	42	75546											
PCDHA10	56139	broad.mit.edu	37	chr5	140237357	140237357	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctggcagcgcgggcggtgCagtcagtgagctggtgctgc	19	11	1	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr5:140237357C>A	uc003lhx.2	+	1	1724	c.1724C>A	c.(1723-1725)GCA>GAA	p.A575E	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.A575E	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	575	Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGGCGGTGCAGTCAGTGAG	0.662													A	140237357	C	A	140237357	3	1	127	1	0	0	0	0	1	0	0	0	11520	710	25	5	1726	5	PCDHA10	5	140237357	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	63233286	140237357	40677903	43	75547											
ADAM19	8728	broad.mit.edu	37	chr5	156907962	156907962	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccccttggacaggtctagaTtttcgagctaatcatccctc	8	13	2	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr5:156907962T>G	uc003lwz.2	-	23	2816	c.2752A>C	c.(2752-2754)ATC>CTC	p.I918L	ADAM19_uc003lww.1_Intron|ADAM19_uc003lwy.2_Intron	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	Error:Variant_position_missing_in_Q9H013_after_alignment					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGGTCTAGATTTTCGAGCTA	0.517													G	156907962	T	G	156907962	3	3	127	1	0	0	0	0	1	0	0	0	240	1493	52	5	8	5	ADAM19	5	156907962	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	16670605	156907962	24007298	44	75548											
HIST1H4C	8364	broad.mit.edu	37	chr6	26104229	26104229	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagggtggtgctaagcgCcatcgtaaggtgctccggga	18	8	0	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr6:26104229C>T	uc003ngi.2	+	1	54	c.54C>T	c.(52-54)CGC>CGT	p.R18R		NM_003542	NP_003533	P62805	H4_HUMAN	histone cluster 1, H4c	18					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0						GTGCTAAGCGCCATCGTAAGG	0.532													T	26104229	C	T	26104229	2	4	127	1	0	0	0	0	0	0	0	1	7167	726	26	2		2	HIST1H4C	6	26104229	Silent	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08		26104229	145010838	45	75549											
TNXB	7148	broad.mit.edu	37	chr6	32049829	32049829	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccagtggtgccatcggcCgtgagggggccataccgctt	14	13	1	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr6:32049829C>T	uc003nzl.2	-	9	3922	c.3720G>A	c.(3718-3720)ACG>ACA	p.T1240T		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1327	Fibronectin type-III 5.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						TGCCATCGGCCGTGAGGGGGC	0.582													T	32049829	C	T	32049829	2	4	127	1	0	0	0	0	0	0	0	1	16343	639	23	1		1	TNXB	6	32049829	Silent	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	5945600	32049829	139065238	46	75550											
TDRD6	221400	broad.mit.edu	37	chr6	46658993	46658993	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaaccttgtgccttgccaAgtatactgatggaaactggt	11	8	0	1	rs138212613		TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr6:46658993A>G	uc003oyj.2	+	1	3128	c.3128A>G	c.(3127-3129)AAG>AGG	p.K1043R	TDRD6_uc010jze.2_Missense_Mutation_p.K1037R	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1043	Tudor 5.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			TGCCTTGCCAAGTATACTGAT	0.338													G	46658993	A	G	46658993	3	3	127	1	0	0	0	0	1	0	0	0	15731	72	3	3	3130	3	TDRD6	6	46658993	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	14609164	46658993	124456074	47	75551											
COL12A1	1303	broad.mit.edu	37	chr6	75797366	75797366	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatccaggaggacctgggggTcctcggatacctgagtttcc	13	11	0	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr6:75797366T>C	uc003phs.2	-	65	9274	c.9108A>G	c.(9106-9108)GGA>GGG	p.G3036G	COL12A1_uc003pht.2_Silent_p.G1872G	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	3036	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GACCTGGGGGTCCTCGGATAC	0.577													C	75797366	T	C	75797366	2	2	127	1	0	0	0	0	0	0	0	1	3669	1654	58	3		3	COL12A1	6	75797366	Silent	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	29138373	75797366	95317701	48	75552											
SYNE1	23345	broad.mit.edu	37	chr6	152651681	152651681	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatggctctgcaaccatcTtgcagagaaagagcctcctc	9	12	2	3			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr6:152651681T>G	uc010kiw.2	-	78	14741	c.14139A>C	c.(14137-14139)CAA>CAC	p.Q4713H	SYNE1_uc003qot.3_Missense_Mutation_p.Q4642H|SYNE1_uc003qou.3_Missense_Mutation_p.Q4713H|SYNE1_uc010kiz.2_Missense_Mutation_p.Q468H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4713	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)		TGCAACCATCTTGCAGAGAAA	0.532										HNSCC(10;0.0054)			G	152651681	T	G	152651681	3	3	127	1	0	0	0	0	1	0	0	0	15442	1606	56	5	12603	5	SYNE1	6	152651681	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	76854315	152651681	18463386	49	75553											
VIP	7432	broad.mit.edu	37	chr6	153075391	153075391	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgttgcaaaatgcattagcTgaaaatgacacaccctatta	6	8	0	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr6:153075391T>C	uc003qpe.2	+	3	370	c.198T>C	c.(196-198)GCT>GCC	p.A66A	VIP_uc003qpf.2_Silent_p.A66A|VIP_uc010kjd.2_Silent_p.A66A	NM_003381	NP_003372	P01282	VIP_HUMAN	vasoactive intestinal peptide isoform 1	66					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity				0		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		ATGCATTAGCTGAAAATGACA	0.338													C	153075391	T	C	153075391	2	2	127	1	0	0	0	0	0	0	0	1	17164	1567	55	3		3	VIP	6	153075391	Silent	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	423710	153075391	18039676	50	75554											
THBS2	7058	broad.mit.edu	37	chr6	169623453	169623453	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttgggatccaaggggaccAtctggaagttcctgaagtct	12	9	2	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr6:169623453A>T	uc003qwt.2	-	19	3139	c.2891T>A	c.(2890-2892)ATG>AAG	p.M964K		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	964	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CAAGGGGACCATCTGGAAGTT	0.483													T	169623453	A	T	169623453	3	4	127	1	0	0	0	0	1	0	0	0	15851	217	8	5	647	5	THBS2	6	169623453	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	16548062	169623453	1491614	51	75555											
C7orf42	55069	broad.mit.edu	37	chr7	66413649	66413649	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcacagcctgcatgaccctCacggccagccctggggtgtt	11	15	2	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:66413649C>A	uc003tvk.2	+	4	828	c.564C>A	c.(562-564)CTC>CTA	p.L188L	C7orf42_uc010lah.2_RNA|C7orf42_uc003tvl.2_Silent_p.L188L	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN	hypothetical protein LOC55069	188	Helical; (Potential).					integral to membrane				ovary(1)	1						GCATGACCCTCACGGCCAGCC	0.592													A	66413649	C	A	66413649	2	1	127	1	0	0	0	0	0	0	0	1	2392	813	29	5		5	C7orf42	7	66413649	Silent	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08		66413649	92725014	52	75556											
PCLO	27445	broad.mit.edu	37	chr7	82784787	82784787	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actccaggaggctgagctaaAgcctttggcccaggctgctc	12	13	0	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:82784787A>G	uc003uhx.2	-	2	1459	c.1170T>C	c.(1168-1170)GCT>GCC	p.A390A	PCLO_uc003uhv.2_Silent_p.A390A	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GCTGAGCTAAAGCCTTTGGCC	0.587													G	82784787	A	G	82784787	2	3	127	1	0	0	0	0	0	0	0	1	11583	59	3	3		3	PCLO	7	82784787	Silent	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	16371138	82784787	76353876	53	75557											
GRM3	2913	broad.mit.edu	37	chr7	86416183	86416183	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggacttctgggagcaaaagTttcagtgcagcctccagaac	12	10	2	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:86416183T>C	uc003uid.2	+	3	2174	c.1075T>C	c.(1075-1077)TTT>CTT	p.F359L	GRM3_uc010lef.2_Missense_Mutation_p.F357L|GRM3_uc010leg.2_Missense_Mutation_p.F231L|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	359	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGAGCAAAAGTTTCAGTGCAG	0.582													C	86416183	T	C	86416183	3	2	127	1	0	0	0	0	1	0	0	0	6798	1725	60	3	1081	3	GRM3	7	86416183	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	3631396	86416183	72722480	54	75558											
GRM3	2913	broad.mit.edu	37	chr7	86416411	86416411	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagttgtacaaggattacTtgctgaaaatcaacttcacg	8	7	2	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:86416411T>C	uc003uid.2	+	3	2402	c.1303T>C	c.(1303-1305)TTG>CTG	p.L435L	GRM3_uc010lef.2_Silent_p.L433L|GRM3_uc010leg.2_Silent_p.L307L|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	435	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CAAGGATTACTTGCTGAAAAT	0.433													C	86416411	T	C	86416411	2	2	127	1	0	0	0	0	0	0	0	1	6798	1606	56	3		3	GRM3	7	86416411	Silent	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	228	86416411	72722252	55	75559											
KIAA1324L	222223	broad.mit.edu	37	chr7	86539267	86539267	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgaccctgccactatttcTtttactgtaaagtctgttat	5	10	3	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:86539267T>G	uc011kha.1	-	16	2405	c.2220A>C	c.(2218-2220)AAA>AAC	p.K740N	KIAA1324L_uc003uif.1_Missense_Mutation_p.K500N|KIAA1324L_uc011kgz.1_Missense_Mutation_p.K626N|KIAA1324L_uc003uie.2_Missense_Mutation_p.K573N	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	740	Extracellular (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)					CCACTATTTCTTTTACTGTAA	0.378													G	86539267	T	G	86539267	3	3	127	1	0	0	0	0	1	0	0	0	8224	1606	56	5	897	5	KIAA1324L	7	86539267	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	122856	86539267	72599396	56	75560											
ABCB4	5244	broad.mit.edu	37	chr7	87080948	87080948	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcacatacctttgcccaAacggctgcagagagtcctag	8	13	1	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:87080948A>C	uc003uiv.1	-	7	775	c.699T>G	c.(697-699)GTT>GTG	p.V233V	ABCB4_uc003uiw.1_Silent_p.V233V|ABCB4_uc003uix.1_Silent_p.V233V	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	233	Helical; (By similarity).|ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CCTTTGCCCAAACGGCTGCAG	0.458													C	87080948	A	C	87080948	2	2	127	1	0	0	0	0	0	0	0	1	43	1	1	5		5	ABCB4	7	87080948	Silent	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	541681	87080948	72057715	57	75561											
ADAM22	53616	broad.mit.edu	37	chr7	87808319	87808319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttatagcgacattcctccCggagtcagcacaaactcagc	7	13	2	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:87808319C>T	uc003ujn.2	+	27	2449	c.2370C>T	c.(2368-2370)CCC>CCT	p.P790P	ADAM22_uc003ujk.1_Silent_p.P790P|ADAM22_uc003ujl.1_Intron|ADAM22_uc003ujm.2_Intron|ADAM22_uc003ujo.2_Intron|ADAM22_uc003ujp.1_Silent_p.P842P	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	790	Cytoplasmic (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ACATTCCTCCCGGAGTCAGCA	0.408													T	87808319	C	T	87808319	2	4	127	1	0	0	0	0	0	0	0	1	244	639	23	1		1	ADAM22	7	87808319	Silent	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	727371	87808319	71330344	58	75562											
ZNF804B	219578	broad.mit.edu	37	chr7	88965208	88965208	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattcaacttgcaccatcagGctgtaacagacaagcattgc	7	11	2	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:88965208G>T	uc011khi.1	+	4	3450	c.2912G>T	c.(2911-2913)GGC>GTC	p.G971V		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	971						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GCACCATCAGGCTGTAACAGA	0.408										HNSCC(36;0.09)			T	88965208	G	T	88965208	3	4	127	1	0	0	0	0	1	0	0	0	18168	1203	42	5	2926	5	ZNF804B	7	88965208	Missense_Mutation	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08	1156889	88965208	70173455	59	75563											
PIK3CG	5294	broad.mit.edu	37	chr7	106508733	106508733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccgacgacacccccggcGccatcctgcagagcttcttc	8	20	1	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:106508733G>A	uc003vdv.3	+	2	812	c.727G>A	c.(727-729)GCC>ACC	p.A243T	PIK3CG_uc003vdu.2_Missense_Mutation_p.A243T|PIK3CG_uc003vdw.2_Missense_Mutation_p.A243T	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	243					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						CACCCCCGGCGCCATCCTGCA	0.532													A	106508733	G	A	106508733	3	1	127	1	0	0	0	0	1	0	0	0	11916	1087	38	1	729	1	PIK3CG	7	106508733	Missense_Mutation	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08	17543525	106508733	52629930	60	75564											
CFTR	1080	broad.mit.edu	37	chr7	117246774	117246774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatatagcaattttggatgaCcttctgcctcttaccatatt	6	9	2	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:117246774C>T	uc003vjd.2	+	18	3087	c.2955C>T	c.(2953-2955)GAC>GAT	p.D985D	CFTR_uc011knq.1_Silent_p.D391D	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	985	Cytoplasmic (Potential).|ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTTTGGATGACCTTCTGCCTC	0.284									Cystic_Fibrosis				T	117246774	C	T	117246774	2	4	127	1	0	0	0	0	0	0	0	1	3294	506	18	4		4	CFTR	7	117246774	Silent	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	10738041	117246774	41891889	61	75565											
PLXNA4	91584	broad.mit.edu	37	chr7	131864619	131864619	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacgatggcgggcaggctgAgcgggctgtccggggcaatg	20	9	0	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:131864619A>C	uc003vra.3	-	20	3930	c.3701T>G	c.(3700-3702)CTC>CGC	p.L1234R		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1234	Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GGGCAGGCTGAGCGGGCTGTC	0.637													C	131864619	A	C	131864619	3	2	127	1	0	0	0	0	1	0	0	0	12122	304	11	5	2035	5	PLXNA4	7	131864619	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	14617845	131864619	27274044	62	75566											
KIAA1549	57670	broad.mit.edu	37	chr7	138546176	138546176	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccaccgaggatggtgtctgCacatcggctgggaggtcagg	16	10	2	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:138546176C>G	uc011kql.1	-	16	5005	c.4956G>C	c.(4954-4956)GTG>GTC	p.V1652V	KIAA1549_uc011kqi.1_Silent_p.V436V|KIAA1549_uc003vuk.3_Silent_p.V1602V|KIAA1549_uc011kqj.1_Silent_p.V1652V|KIAA1549_uc011kqk.1_Silent_p.V436V	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1652						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						ATGGTGTCTGCACATCGGCTG	0.552			O	BRAF	pilocytic astrocytoma								G	138546176	C	G	138546176	2	3	127	1	0	0	0	0	0	0	0	1	8244	697	25	5		5	KIAA1549	7	138546176	Silent	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	6681557	138546176	20592487	63	75567											
CNTNAP2	26047	broad.mit.edu	37	chr7	147869394	147869394	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccttgaggatgaatggggTgacacttgacctggaggaaa	14	7	0	4			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:147869394T>G	uc003weu.1	+	18	3350	c.2834T>G	c.(2833-2835)GTG>GGG	p.V945G		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	945	Laminin G-like 3.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATGAATGGGGTGACACTTGAC	0.552										HNSCC(39;0.1)			G	147869394	T	G	147869394	3	3	127	1	0	0	0	0	1	0	0	0	3647	1696	59	5	2904	5	CNTNAP2	7	147869394	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	9323218	147869394	11269269	64	75568											
CUL1	8454	broad.mit.edu	37	chr7	148427251	148427251	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagaacccccacggcctgAagcagattggcctggaccag	12	15	0	3			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:148427251A>C	uc010lpg.2	+	2	563	c.37A>C	c.(37-39)AAG>CAG	p.K13Q	CUL1_uc003wey.2_Missense_Mutation_p.K13Q|CUL1_uc003wez.2_5'UTR	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	13					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CCACGGCCTGAAGCAGATTGG	0.542													C	148427251	A	C	148427251	3	2	127	1	0	0	0	0	1	0	0	0	4054	247	9	5	39	5	CUL1	7	148427251	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	557857	148427251	10711412	65	75569											
CSMD1	64478	broad.mit.edu	37	chr8	2820840	2820840	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accgtccatgcagctgtaacTtatgctggagccccagcgga	11	13	0	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr8:2820840T>G	uc011kwk.1	-	60	9751	c.9361A>C	c.(9361-9363)AGT>CGT	p.S3121R	CSMD1_uc011kwj.1_Missense_Mutation_p.S2450R|CSMD1_uc010lrg.2_Missense_Mutation_p.S1012R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3121	Sushi 25.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGCTGTAACTTATGCTGGAG	0.562													G	2820840	T	G	2820840	3	3	127	1	0	0	0	0	1	0	0	0	3944	1609	56	5	1380	5	CSMD1	8	2820840	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08		2820840	143543182	66	75570											
ZMAT4	79698	broad.mit.edu	37	chr8	40532429	40532429	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtccatccgtgggggcTtaagtgggctcaggggtgtt	17	8	1	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr8:40532429T>C	uc003xnr.2	-	5	517	c.371A>G	c.(370-372)AAG>AGG	p.K124R	ZMAT4_uc003xns.2_Intron	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	zinc finger, matrin type 4 isoform a	124						nucleus	DNA binding|zinc ion binding			pancreas(1)|central_nervous_system(1)|skin(1)	3	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CCGTGGGGGCTTAAGTGGGCT	0.522													C	40532429	T	C	40532429	3	2	127	1	0	0	0	0	1	0	0	0	17691	1609	56	3	330	3	ZMAT4	8	40532429	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	37711589	40532429	105831593	67	75571											
RP1	6101	broad.mit.edu	37	chr8	55533710	55533710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaccctcgctcctttaagTcctttgatgctctgctggat	7	13	2	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr8:55533710T>C	uc003xsd.1	+	2	332	c.184T>C	c.(184-186)TCC>CCC	p.S62P	RP1_uc011ldy.1_Missense_Mutation_p.S62P	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	62	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTCCTTTAAGTCCTTTGATGC	0.577													C	55533710	T	C	55533710	3	2	127	1	0	0	0	0	1	0	0	0	13532	1667	58	3	186	3	RP1	8	55533710	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	15001281	55533710	90830312	68	75572											
SLC26A7	115111	broad.mit.edu	37	chr8	92401568	92401568	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctctgtttctcctacagaaGaagcttcacagtcctgccct	6	14	3	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr8:92401568G>A	uc003yex.2	+	17	1956	c.1678G>A	c.(1678-1680)GAA>AAA	p.E560K	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.E560K|SLC26A7_uc003yfa.2_Missense_Mutation_p.E560K	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	560	STAS.|Cytoplasmic (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCCTACAGAAGAAGCTTCACA	0.438													A	92401568	G	A	92401568	3	1	127	1	0	0	0	0	1	0	0	0	14522	943	33	4	1736	4	SLC26A7	8	92401568	Missense_Mutation	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08	36867858	92401568	53962454	69	75573											
RIMS2	9699	broad.mit.edu	37	chr8	104898091	104898091	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgagaggctcagggaccaAgttcttatgcacaaaggacc	11	11	2	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr8:104898091A>G	uc003yls.2	+	2	839	c.598A>G	c.(598-600)AGT>GGT	p.S200G	RIMS2_uc003ylp.2_Missense_Mutation_p.S422G|RIMS2_uc003ylw.2_Missense_Mutation_p.S230G|RIMS2_uc003ylq.2_Missense_Mutation_p.S230G|RIMS2_uc003ylr.2_Missense_Mutation_p.S230G	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	453					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCAGGGACCAAGTTCTTATGC	0.483										HNSCC(12;0.0054)			G	104898091	A	G	104898091	3	3	127	1	0	0	0	0	1	0	0	0	13368	72	3	3	1404	3	RIMS2	8	104898091	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	12496523	104898091	41465931	70	75574											
ZFPM2	23414	broad.mit.edu	37	chr8	106813645	106813645	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaagtgtgagaaaaagacTcagctctttctcacgaacca	8	10	3	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr8:106813645T>C	uc003ymd.2	+	8	1358	c.1335T>C	c.(1333-1335)ACT>ACC	p.T445T	ZFPM2_uc011lhs.1_Silent_p.T176T|uc003yme.1_5'Flank	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	445					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGAAAAAGACTCAGCTCTTTC	0.453													C	106813645	T	C	106813645	2	2	127	1	0	0	0	0	0	0	0	1	17655	1538	54	3		3	ZFPM2	8	106813645	Silent	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	1915554	106813645	39550377	71	75575											
CSMD3	114788	broad.mit.edu	37	chr8	113988120	113988120	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctatctgttcagcatgtcTtggtcttctcctggtacttt	7	10	6	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr8:113988120T>G	uc003ynu.2	-	7	1447	c.1288A>C	c.(1288-1290)AGA>CGA	p.R430R	CSMD3_uc003ynt.2_Silent_p.R390R|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	430	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TCAGCATGTCTTGGTCTTCTC	0.448										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113988120	T	G	113988120	2	3	127	1	0	0	0	0	0	0	0	1	3946	1617	56	5		5	CSMD3	8	113988120	Silent	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	7174475	113988120	32375902	72	75576											
GSDMC	56169	broad.mit.edu	37	chr8	130762281	130762281	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatggggtcctttgggttaaAccatgcatggtttgaatcct	11	7	0	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr8:130762281A>T	uc003ysr.2	-	12	2050	c.1168T>A	c.(1168-1170)TTT>ATT	p.F390I		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	melanoma-derived leucine zipper, extra-nuclear	390						mitochondrion				ovary(2)|skin(1)	3						TTTGGGTTAAACCATGCATGG	0.453													T	130762281	A	T	130762281	3	4	127	1	0	0	0	0	1	0	0	0	6818	43	2	5	370	5	GSDMC	8	130762281	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	16774161	130762281	15601741	73	75577											
FAM135B	51059	broad.mit.edu	37	chr8	139164785	139164785	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctccctcagggtagaacTtagtggatcacagggctcag	14	10	3	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr8:139164785T>G	uc003yuy.2	-	13	2104	c.1933A>C	c.(1933-1935)AGT>CGT	p.S645R	FAM135B_uc003yux.2_Missense_Mutation_p.S546R|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.S207R|FAM135B_uc003yvb.2_Missense_Mutation_p.S207R	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	645										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGGGTAGAACTTAGTGGATCA	0.488										HNSCC(54;0.14)			G	139164785	T	G	139164785	3	3	127	1	0	0	0	0	1	0	0	0	5449	1609	56	5	2319	5	FAM135B	8	139164785	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	8402504	139164785	7199237	74	75578											
OSTF1	26578	broad.mit.edu	37	chr9	77703615	77703615	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggaagcgagatgtcgAagccgccacccaaaccagtc	10	15	0	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr9:77703615A>T	uc004ajv.3	+	1	218	c.7A>T	c.(7-9)AAG>TAG	p.K3*	OSTF1_uc004ajw.3_5'UTR|OSTF1_uc004ajx.3_Nonsense_Mutation_p.K3*|C9orf95_uc004aju.2_5'Flank|C9orf95_uc004ajs.3_5'Flank|C9orf95_uc004ajr.3_5'Flank|C9orf95_uc004ajt.3_5'Flank	NM_012383	NP_036515	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	3					ossification|signal transduction	cytoplasm	identical protein binding			skin(1)	1						CGAGATGTCGAAGCCGCCACC	0.642													T	77703615	A	T	77703615	4	4	127	1	0	0	0	0	0	1	0	0	11297	247	9	5	9	5	OSTF1	9	77703615	Nonsense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08		77703615	63509816	75	75579											
C9orf79	286234	broad.mit.edu	37	chr9	90503233	90503233	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacagggtctacaccccagGaaaggaggcacacggtggga	14	12	1	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr9:90503233G>A	uc004app.3	+	4	3866	c.3831G>A	c.(3829-3831)AGG>AGA	p.R1277R		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	1277						integral to membrane				ovary(3)	3						TACACCCCAGGAAAGGAGGCA	0.547													A	90503233	G	A	90503233	2	1	127	1	0	0	0	0	0	0	0	1	2497	1165	41	4		4	C9orf79	9	90503233	Silent	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08	12799618	90503233	50710198	76	75580											
TSTD2	158427	broad.mit.edu	37	chr9	100367774	100367774	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggtggctcaccttggctttGaggtaggctgaaccccgctc	13	12	1	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr9:100367774G>C	uc004axn.2	-	8	1592	c.1104C>G	c.(1102-1104)CTC>CTG	p.L368L	TSTD2_uc004axo.2_Silent_p.L142L|TSTD2_uc004axp.1_Silent_p.L142L	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like	368	Rhodanese.									ovary(2)	2						CCTTGGCTTTGAGGTAGGCTG	0.582													C	100367774	G	C	100367774	2	2	127	1	0	0	0	0	0	0	0	1	16672	1277	45	5		5	TSTD2	9	100367774	Silent	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08	9864541	100367774	40845657	77	75581											
SMC2	10592	broad.mit.edu	37	chr9	106889688	106889688	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaggagcaaaacaatgattCtcagcttaaaattaaggaat	7	6	1	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr9:106889688C>T	uc004bbv.2	+	20	3005	c.2717C>T	c.(2716-2718)TCT>TTT	p.S906F	SMC2_uc004bbw.2_Missense_Mutation_p.S906F|SMC2_uc011lvl.1_Missense_Mutation_p.S906F|SMC2_uc004bbx.2_Missense_Mutation_p.S906F|SMC2_uc004bby.2_RNA	NM_001042551	NP_001036016	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	906	Potential.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						AACAATGATTCTCAGCTTAAA	0.388													T	106889688	C	T	106889688	3	4	127	1	0	0	0	0	1	0	0	0	14783	913	32	4	2791	4	SMC2	9	106889688	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	6521914	106889688	34323743	78	75582											
FBXW5	54461	broad.mit.edu	37	chr9	139835816	139835816	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcccgcatggtcttgaggtcGaacaccagcaggtcaatctc	10	13	3	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr9:139835816G>C	uc004cjx.2	-	8	1495	c.1344C>G	c.(1342-1344)TTC>TTG	p.F448L	FBXW5_uc010nbx.2_RNA|FBXW5_uc004cjy.2_Missense_Mutation_p.F196L|FBXW5_uc004cjz.2_Missense_Mutation_p.F178L	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	448							catalytic activity|protein binding				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TCTTGAGGTCGAACACCAGCA	0.657													C	139835816	G	C	139835816	3	2	127	1	0	0	0	0	1	0	0	0	5768	1049	37	5	364	5	FBXW5	9	139835816	Missense_Mutation	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08	32946128	139835816	1377615	79	75583											
ARHGAP12	94134	broad.mit.edu	37	chr10	32197485	32197485	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattttctgttgatctctgaAgatgcaaactctgcattatt	6	8	3	3			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr10:32197485A>G	uc001ivz.1	-	3	569	c.299T>C	c.(298-300)CTT>CCT	p.L100P	ARHGAP12_uc001ivy.1_Missense_Mutation_p.L98P|ARHGAP12_uc009xls.2_Missense_Mutation_p.L98P|ARHGAP12_uc001iwb.1_Missense_Mutation_p.L98P|ARHGAP12_uc001iwc.1_Missense_Mutation_p.L98P|ARHGAP12_uc009xlq.1_Missense_Mutation_p.L98P|ARHGAP12_uc001iwd.1_Missense_Mutation_p.L98P|ARHGAP12_uc009xlr.1_Missense_Mutation_p.L98P	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	100					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		Prostate(175;0.0199)				TGATCTCTGAAGATGCAAACT	0.443													G	32197485	A	G	32197485	3	3	127	1	0	0	0	0	1	0	0	0	865	72	3	3	2313	3	ARHGAP12	10	32197485	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08		32197485	103337262	80	75584											
DDX21	9188	broad.mit.edu	37	chr10	70733310	70733310	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacttcaataggatgtagagTcctacattcatcgatccggg	9	9	2	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr10:70733310T>G	uc001jov.1	+	10	1648	c.1558T>G	c.(1558-1560)TCC>GCC	p.S520A	DDX21_uc001jow.1_Missense_Mutation_p.S452A	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 21	520	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)	3						GGATGTAGAGTCCTACATTCA	0.443													G	70733310	T	G	70733310	3	3	127	1	0	0	0	0	1	0	0	0	4349	1667	58	5	1596	5	DDX21	10	70733310	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	38535825	70733310	64801437	81	75585											
C10orf79	80217	broad.mit.edu	37	chr10	105967573	105967573	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgaagcaaaggatatagatCatctttcggcttcagggaga	12	6	3	3	rs41291844	byFrequency	TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr10:105967573C>T	uc001kxw.2	-	6	861	c.745G>A	c.(745-747)GAT>AAT	p.D249N	C10orf79_uc001kxx.3_Missense_Mutation_p.D249N|C10orf79_uc001kxy.1_Missense_Mutation_p.D249N|C10orf79_uc001kxz.2_Missense_Mutation_p.D249N	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	249											0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		GGATATAGATCATCTTTCGGC	0.408													T	105967573	C	T	105967573	3	4	127	1	0	0	0	0	1	0	0	0	1618	826	29	4	4384	4	C10orf79	10	105967573	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	35234263	105967573	29567174	82	75586											
SORCS3	22986	broad.mit.edu	37	chr10	106974370	106974370	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcatcctcatggaggAggtaggtgctcaactgggtc	12	9	4	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr10:106974370A>C	uc001kyi.1	+	18	2773	c.2546A>C	c.(2545-2547)GAG>GCG	p.E849A	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	849	PKD.|Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTCATGGAGGAGGTAGGTGCT	0.567													C	106974370	A	C	106974370	3	2	127	1	0	0	0	0	1	0	0	0	14932	318	11	5	2616	5	SORCS3	10	106974370	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	1006797	106974370	28560377	83	75587											
ADRA2A	150	broad.mit.edu	37	chr10	112838845	112838845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggacgccggctgcagggcCgggggaggagcgcgtcgggg	24	11	0	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr10:112838845C>T	uc001kzo.2	+	1	2056	c.1091C>T	c.(1090-1092)CCG>CTG	p.P364L		NM_000681	NP_000672	P08913	ADA2A_HUMAN	alpha-2A-adrenergic receptor	349	Cytoplasmic (By similarity).			PRRGPGATGIGTPAAGPGEERVGAAKASRWRGR -> RGAG RGRRGSGRRLQGRGRSASGLPRRRAGAGG (in Ref. 1; AAA51664 and 2; AAA51665).	actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding				0		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	GCTGCAGGGCCGGGGGAGGAG	0.657													T	112838845	C	T	112838845	3	4	127	1	0	0	0	0	1	0	0	0	337	652	23	1	1093	1	ADRA2A	10	112838845	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	5864475	112838845	22695902	84	75588											
ADAM12	8038	broad.mit.edu	37	chr10	127797193	127797193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gattagcaatctctattaatCgctgcttaactttttccaga	5	9	1	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr10:127797193C>T	uc001ljk.2	-	8	1132	c.719G>A	c.(718-720)CGA>CAA	p.R240Q	ADAM12_uc010qul.1_Intron|ADAM12_uc001ljm.2_Missense_Mutation_p.R240Q|ADAM12_uc001ljn.2_Missense_Mutation_p.R237Q|ADAM12_uc001ljl.3_Missense_Mutation_p.R237Q	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	240	Extracellular (Potential).|Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTCTATTAATCGCTGCTTAAC	0.353													T	127797193	C	T	127797193	3	4	127	1	0	0	0	0	1	0	0	0	236	884	31	1	2182	1	ADAM12	10	127797193	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	14958348	127797193	7737554	85	75589											
OR52E2	119678	broad.mit.edu	37	chr11	5080572	5080572	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtgaggcaggcttcaaAgatgatccctctgaggttga	14	8	2	5			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:5080572A>C	uc010qyw.1	-	1	286	c.286T>G	c.(286-288)TTT>GTT	p.F96V		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CAGGCTTCAAAGATGATCCCT	0.488													C	5080572	A	C	5080572	3	2	127	1	0	0	0	0	1	0	0	0	11115	72	3	5	694	5	OR52E2	11	5080572	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08		5080572	129925944	86	75590											
OR52A5	390054	broad.mit.edu	37	chr11	5153615	5153615	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctggcaaatgaaaccagaaGatgcctaacattttgggaag	10	7	1	3			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:5153615G>A	uc010qyx.1	-	1	258	c.258C>T	c.(256-258)ATC>ATT	p.I86I		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A,	86	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|lung(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAAACCAGAAGATGCCTAACA	0.413													A	5153615	G	A	5153615	2	1	127	1	0	0	0	0	0	0	0	1	11110	932	33	4		4	OR52A5	11	5153615	Silent	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08	73043	5153615	129852901	87	75591											
OR51B6	390058	broad.mit.edu	37	chr11	5372892	5372892	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctcatcaggaatgatcataAcctccatgagcccatgtact	6	12	3	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:5372892A>T	uc010qzb.1	+	1	155	c.155A>T	c.(154-156)AAC>ATC	p.N52I	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B,	52	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGATCATAACCTCCATGAG	0.458													T	5372892	A	T	5372892	3	4	127	1	0	0	0	0	1	0	0	0	11092	43	2	5	157	5	OR51B6	11	5372892	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	219277	5372892	129633624	88	75592											
OR10A3	26496	broad.mit.edu	37	chr11	7960800	7960800	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccacaaaagaaatcatagTtttctcagtagagagcacca	7	10	2	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:7960800T>G	uc010rbi.1	-	1	268	c.268A>C	c.(268-270)ACT>CCT	p.T90P		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A,	90	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAAATCATAGTTTTCTCAGTA	0.458													G	7960800	T	G	7960800	3	3	127	1	0	0	0	0	1	0	0	0	10891	1725	60	5	679	5	OR10A3	11	7960800	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	2587908	7960800	127045716	89	75593											
MRVI1	10335	broad.mit.edu	37	chr11	10651144	10651144	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacggcgggtcaggaatcgcTcactcaccaacttggcttct	10	14	4	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:10651144T>C	uc010rcc.1	-	5	901	c.515A>G	c.(514-516)GAG>GGG	p.E172G	MRVI1_uc001miw.2_Missense_Mutation_p.E163G|MRVI1_uc010rcb.1_Missense_Mutation_p.E163G|MRVI1_uc009ygb.1_5'UTR|MRVI1_uc001mix.2_5'UTR|MRVI1_uc001miz.2_Missense_Mutation_p.E81G|MRVI1_uc009ygc.1_Missense_Mutation_p.E81G|MRVI1_uc010rcd.1_Missense_Mutation_p.E172G|MRVI1_uc009ygd.1_5'UTR|MRVI1_uc010rce.1_RNA	NM_001100167	NP_001093637	Q9Y6F6	MRVI1_HUMAN	JAW1-related protein isoform c	163	Interaction with PRKG1 (By similarity).				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				ovary(2)|central_nervous_system(1)	3				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CAGGAATCGCTCACTCACCAA	0.587													C	10651144	T	C	10651144	3	2	127	1	0	0	0	0	1	0	0	0	9853	1551	54	3	2291	3	MRVI1	11	10651144	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	2690344	10651144	124355372	90	75594											
FOLH1	2346	broad.mit.edu	37	chr11	49208305	49208305	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcagttcgtgcatagttaAcatacactagatcgccctgt	7	11	1	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:49208305A>C	uc001ngy.2	-	5	791	c.530T>G	c.(529-531)GTT>GGT	p.V177G	FOLH1_uc001ngz.2_Missense_Mutation_p.V177G|FOLH1_uc009yly.2_Missense_Mutation_p.V162G|FOLH1_uc009ylz.2_Missense_Mutation_p.V162G|FOLH1_uc009yma.2_5'UTR	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	177	Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TGCATAGTTAACATACACTAG	0.378													C	49208305	A	C	49208305	3	2	127	1	0	0	0	0	1	0	0	0	5979	43	2	5	1782	5	FOLH1	11	49208305	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	38557161	49208305	85798211	91	75595											
OR5T2	219464	broad.mit.edu	37	chr11	56000269	56000269	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctacacatccaaggaatgaAatgactttattctttgtcgt	7	8	1	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:56000269A>G	uc010rjc.1	-	1	393	c.393T>C	c.(391-393)ATT>ATC	p.I131I		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	131	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					CAAGGAATGAAATGACTTTAT	0.388													G	56000269	A	G	56000269	2	3	127	1	0	0	0	0	0	0	0	1	11182	10	1	3		3	OR5T2	11	56000269	Silent	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	6791964	56000269	79006247	92	75596											
OR5T2	219464	broad.mit.edu	37	chr11	56000483	56000483	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagatagtctgcagttcaAgattgtctgtgaagcccttc	10	8	3	4			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:56000483A>C	uc010rjc.1	-	1	179	c.179T>G	c.(178-180)CTT>CGT	p.L60R		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	60	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					CTGCAGTTCAAGATTGTCTGT	0.373													C	56000483	A	C	56000483	3	2	127	1	0	0	0	0	1	0	0	0	11182	72	3	5	899	5	OR5T2	11	56000483	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	214	56000483	79006033	93	75597											
FAM111A	63901	broad.mit.edu	37	chr11	58919526	58919526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggccaagaaatgcttgtgCgtggcacagaaggaatcaaa	12	7	1	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:58919526C>T	uc010rkp.1	+	5	612	c.385C>T	c.(385-387)CGT>TGT	p.R129C	FAM111A_uc010rkq.1_Missense_Mutation_p.R129C|FAM111A_uc010rkr.1_Missense_Mutation_p.R129C|FAM111A_uc001nno.2_Missense_Mutation_p.R129C|FAM111A_uc001nnp.2_Missense_Mutation_p.R129C|FAM111A_uc001nnq.2_Missense_Mutation_p.R129C	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN	hypothetical protein LOC63901	129					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_epithelial(135;0.139)				AATGCTTGTGCGTGGCACAGA	0.443													T	58919526	C	T	58919526	3	4	127	1	0	0	0	0	1	0	0	0	5399	768	27	1	391	1	FAM111A	11	58919526	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	2919043	58919526	76086990	94	75598											
OR5A1	219982	broad.mit.edu	37	chr11	59210757	59210757	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccttcctgggcatctatcTtaccaccctggcctggaacc	8	16	2	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:59210757T>C	uc001nnx.1	+	1	116	c.116T>C	c.(115-117)CTT>CCT	p.L39P		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	39	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2						GGCATCTATCTTACCACCCTG	0.507													C	59210757	T	C	59210757	3	2	127	1	0	0	0	0	1	0	0	0	11139	1609	56	3	118	3	OR5A1	11	59210757	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	291231	59210757	75795759	95	75599											
C11orf2	738	broad.mit.edu	37	chr11	64875883	64875883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcagtggcttcgtgggcGgcctctgccaggtggcggcg	20	11	1	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:64875883G>A	uc001ocr.1	+	5	980	c.940G>A	c.(940-942)GGC>AGC	p.G314S	C11orf2_uc001ocs.1_Missense_Mutation_p.G190S	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	314					lipid transport|protein transport	Golgi apparatus|integral to membrane					0						CTTCGTGGGCGGCCTCTGCCA	0.701													A	64875883	G	A	64875883	3	1	127	1	0	0	0	0	1	0	0	0	1633	1116	39	1	958	1	C11orf2	11	64875883	Missense_Mutation	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08	5665126	64875883	70130633	96	75600											
PDE2A	5138	broad.mit.edu	37	chr11	72292506	72292506	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggatcccggtagcccttcTtcaccatcaaacagaacctg	9	14	3	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:72292506T>G	uc010rrc.1	-	23	2183	c.1940A>C	c.(1939-1941)AAG>ACG	p.K647T	PDE2A_uc001oso.2_Missense_Mutation_p.K626T|PDE2A_uc010rra.1_Missense_Mutation_p.K640T|PDE2A_uc001osn.2_Missense_Mutation_p.K391T|PDE2A_uc010rrb.1_Missense_Mutation_p.K638T|PDE2A_uc010rrd.1_Missense_Mutation_p.K532T	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	647	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GTAGCCCTTCTTCACCATCAA	0.572													G	72292506	T	G	72292506	3	3	127	1	0	0	0	0	1	0	0	0	11636	1609	56	5	921	5	PDE2A	11	72292506	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	7416623	72292506	62714010	97	75601											
P4HA3	283208	broad.mit.edu	37	chr11	73979244	73979244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaagtgtgtcactgtcccCttcaccactcctgtgcaggt	9	13	2	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:73979244C>T	uc001ouz.2	-	12	1553	c.1510G>A	c.(1510-1512)GGG>AGG	p.G504R	P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Silent_p.K501K	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha III subunit	504	Fe2OG dioxygenase.					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			skin(1)	1	Breast(11;2.31e-05)					TCACTGTCCCCTTCACCACTC	0.572													T	73979244	C	T	73979244	3	4	127	1	0	0	0	0	1	0	0	0	11358	681	24	4	132	4	P4HA3	11	73979244	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	1686738	73979244	61027272	98	75602											
TRPC6	7225	broad.mit.edu	37	chr11	101375029	101375029	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggcagtgggcagccagaAtgattggagtcacatcatgg	14	9	2	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:101375029A>C	uc001pgk.3	-	2	1096	c.671T>G	c.(670-672)ATT>AGT	p.I224S	TRPC6_uc009ywy.2_Missense_Mutation_p.I224S|TRPC6_uc009ywz.1_Missense_Mutation_p.I224S	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	224	Cytoplasmic (Potential).|ANK 4.				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GGCAGCCAGAATGATTGGAGT	0.483													C	101375029	A	C	101375029	3	2	127	1	0	0	0	0	1	0	0	0	16580	101	4	5	2172	5	TRPC6	11	101375029	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	27395785	101375029	33631487	99	75603											
OR10G7	390265	broad.mit.edu	37	chr11	123908974	123908974	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaaagaagcaaaggaccacGatacagtgggaggcacaggt	13	9	0	1	rs151111393		TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:123908974G>A	uc001pzq.1	-	1	735	c.735C>T	c.(733-735)ATC>ATT	p.I245I		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G,	245	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAAGGACCACGATACAGTGGG	0.562													A	123908974	G	A	123908974	2	1	127	1	0	0	0	0	0	0	0	1	10902	1048	37	1		1	OR10G7	11	123908974	Silent	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08	22533945	123908974	11097542	100	75604											
EFCAB4B	84766	broad.mit.edu	37	chr12	3768756	3768756	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaaactgctccttctcacTtttgatttgttgttccatct	6	10	2	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr12:3768756T>C	uc001qmj.2	-	8	1308	c.736A>G	c.(736-738)AGT>GGT	p.S246G	EFCAB4B_uc010sen.1_Missense_Mutation_p.S246G|EFCAB4B_uc010seo.1_Missense_Mutation_p.S246G|EFCAB4B_uc001qmi.1_RNA	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B isoform c	246	Potential.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TCCTTCTCACTTTTGATTTGT	0.289													C	3768756	T	C	3768756	3	2	127	1	0	0	0	0	1	0	0	0	4937	1609	56	3	1703	3	EFCAB4B	12	3768756	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08		3768756	130083139	101	75605											
CLEC4D	338339	broad.mit.edu	37	chr12	8672825	8672825	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttacatttttatgcagaacTttattattcagtttctggat	5	5	2	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr12:8672825T>G	uc001qun.2	+	5	581	c.388T>G	c.(388-390)TTT>GTT	p.F130V		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	130	C-type lectin.|Extracellular (Potential).				innate immune response	integral to membrane	sugar binding				0	Lung SC(5;0.184)					TATGCAGAACTTTATTATTCA	0.368													G	8672825	T	G	8672825	3	3	127	1	0	0	0	0	1	0	0	0	3514	1609	56	5	406	5	CLEC4D	12	8672825	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	4904069	8672825	125179070	102	75606											
CLEC1A	51267	broad.mit.edu	37	chr12	10228175	10228175	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatatttacagtcctcccaActtttgctgtctttatagaa	4	9	1	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr12:10228175A>G	uc001qxb.2	-	4	555	c.471T>C	c.(469-471)AGT>AGC	p.S157S	CLEC1A_uc009zhf.2_Silent_p.S69S|CLEC1A_uc001qxc.2_Silent_p.S69S|CLEC1A_uc001qxd.2_Silent_p.S114S|CLEC1A_uc010sgx.1_Silent_p.S55S	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	C-type lectin-like receptor-1	157	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2						AGTCCTCCCAACTTTTGCTGT	0.393													G	10228175	A	G	10228175	2	3	127	1	0	0	0	0	0	0	0	1	3505	40	2	3		3	CLEC1A	12	10228175	Silent	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	1555350	10228175	123623720	103	75607											
CLEC1A	51267	broad.mit.edu	37	chr12	10233966	10233966	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctaatctttcttccatttgAgaaatggtgtcttgaccagt	7	9	3	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr12:10233966A>G	uc001qxb.2	-	3	345	c.261T>C	c.(259-261)TCT>TCC	p.S87S	CLEC1A_uc009zhf.2_5'UTR|CLEC1A_uc001qxc.2_5'UTR|CLEC1A_uc001qxd.2_Silent_p.S44S|CLEC1A_uc010sgx.1_Intron	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	C-type lectin-like receptor-1	87	Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2						CTTCCATTTGAGAAATGGTGT	0.398													G	10233966	A	G	10233966	2	3	127	1	0	0	0	0	0	0	0	1	3505	291	11	3		3	CLEC1A	12	10233966	Silent	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	5791	10233966	123617929	104	75608											
PDE3A	5139	broad.mit.edu	37	chr12	20833005	20833005	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaatctactgccaaataActcagcacctcttacagaac	4	12	3	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr12:20833005A>T	uc001reh.1	+	16	3248	c.3226A>T	c.(3226-3228)ACT>TCT	p.T1076S		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	1076	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTGCCAAATAACTCAGCACCT	0.388													T	20833005	A	T	20833005	3	4	127	1	0	0	0	0	1	0	0	0	11637	43	2	5	3288	5	PDE3A	12	20833005	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	10599039	20833005	113018890	105	75609											
DENND5B	160518	broad.mit.edu	37	chr12	31555507	31555507	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agctctcctgatacacagatCcaagggtttgatgtgattat	9	8	1	4			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr12:31555507C>A	uc001rki.1	-	15	3060	c.2874G>T	c.(2872-2874)TGG>TGT	p.W958C	DENND5B_uc001rkh.1_Missense_Mutation_p.W993C|DENND5B_uc009zjq.1_Intron	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	958	PLAT.					integral to membrane				ovary(1)|central_nervous_system(1)	2						ATACACAGATCCAAGGGTTTG	0.398													A	31555507	C	A	31555507	3	1	127	1	0	0	0	0	1	0	0	0	4437	856	30	5	978	5	DENND5B	12	31555507	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	10722502	31555507	102296388	106	75610											
LRRK2	120892	broad.mit.edu	37	chr12	40651103	40651103	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacacctgaatgttttggagTtaatgcagaagcatatacat	8	6	0	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr12:40651103T>G	uc001rmg.3	+	12	1463	c.1342T>G	c.(1342-1344)TTA>GTA	p.L448V	LRRK2_uc001rmh.1_Missense_Mutation_p.L70V	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	448					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGTTTTGGAGTTAATGCAGAA	0.289													G	40651103	T	G	40651103	3	3	127	1	0	0	0	0	1	0	0	0	9033	1722	60	5	1388	5	LRRK2	12	40651103	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	9095596	40651103	93200792	107	75611											
SILV	6490	broad.mit.edu	37	chr12	56351803	56351803	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccatggtgtgtgtgcccaGcattgccctgcctgtcccaa	10	14	0	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr12:56351803G>A	uc001sip.2	-	5	566	c.535C>T	c.(535-537)CTG>TTG	p.L179L	SILV_uc001siq.2_Silent_p.L179L|SILV_uc010spx.1_Silent_p.L93L|SILV_uc001sir.2_Silent_p.L179L	NM_006928	NP_008859	P40967	PMEL_HUMAN	silver homolog	179					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding				0						TGTGTGCCCAGCATTGCCCTG	0.537													A	56351803	G	A	56351803	2	1	127	1	0	0	0	0	0	0	0	1	14322	962	34	2		2	SILV	12	56351803	Silent	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08	15700700	56351803	77500092	108	75612											
TBX5	6910	broad.mit.edu	37	chr12	114823305	114823305	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcattcttgacattctgtgcAgctccatgtcatcactgccc	7	14	4	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr12:114823305A>G	uc001tvo.2	-	7	1226	c.731T>C	c.(730-732)CTG>CCG	p.L244P	TBX5_uc001tvp.2_Missense_Mutation_p.L244P|TBX5_uc001tvq.2_Missense_Mutation_p.L194P|TBX5_uc010syv.1_Missense_Mutation_p.L244P	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	244					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CATTCTGTGCAGCTCCATGTC	0.463													G	114823305	A	G	114823305	3	3	127	1	0	0	0	0	1	0	0	0	15658	188	7	3	904	3	TBX5	12	114823305	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	58471502	114823305	19028590	109	75613											
SRRM4	84530	broad.mit.edu	37	chr12	119594441	119594441	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccggagtcggagccggagCcggagacggagccggacccg	19	13	0	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr12:119594441C>A	uc001txa.1	+	13	1966	c.1674C>A	c.(1672-1674)AGC>AGA	p.S558R		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	558	Ser-rich.|Arg-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						ggagccggagccggagacgga	0.438													A	119594441	C	A	119594441	3	1	127	1	0	0	0	0	1	0	0	0	15170	738	26	5	1724	5	SRRM4	12	119594441	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	4771136	119594441	14257454	110	75614											
MMP17	4326	broad.mit.edu	37	chr12	132325197	132325197	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actacgccctcaaggtctggAgcgacattgcgcccctgaac	10	15	2	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr12:132325197A>G	uc001ujc.1	+	4	601	c.502A>G	c.(502-504)AGC>GGC	p.S168G	MMP17_uc001ujd.1_Missense_Mutation_p.S84G	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	168					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CAAGGTCTGGAGCGACATTGC	0.647													G	132325197	A	G	132325197	3	3	127	1	0	0	0	0	1	0	0	0	9656	304	11	3	516	3	MMP17	12	132325197	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	12730756	132325197	1526698	111	75615											
SOHLH2	54937	broad.mit.edu	37	chr13	36776025	36776025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagtttacctaattaacTtgatggcttccagctcctcg	7	10	0	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr13:36776025T>C	uc001uvj.2	-	2	343	c.254A>G	c.(253-255)AAG>AGG	p.K85R	SOHLH2_uc010tei.1_Missense_Mutation_p.K162R	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	85					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CCTAATTAACTTGATGGCTTC	0.368													C	36776025	T	C	36776025	3	2	127	1	0	0	0	0	1	0	0	0	14924	1609	56	3	1063	3	SOHLH2	13	36776025	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08		36776025	78393853	112	75616											
POSTN	10631	broad.mit.edu	37	chr13	38156507	38156507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtgattcacttactgtaCgatatacgaagactctgagc	9	8	2	3			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr13:38156507C>T	uc001uwo.3	-	10	1506	c.1388G>A	c.(1387-1389)CGT>CAT	p.R463H	POSTN_uc010tet.1_5'Flank|POSTN_uc001uwp.3_Missense_Mutation_p.R463H|POSTN_uc001uwr.2_Missense_Mutation_p.R463H|POSTN_uc001uwq.2_Missense_Mutation_p.R463H|POSTN_uc010teu.1_Missense_Mutation_p.R463H|POSTN_uc010tev.1_Missense_Mutation_p.R463H|POSTN_uc010tew.1_Missense_Mutation_p.R463H|POSTN_uc010tex.1_Missense_Mutation_p.R378H	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	463	FAS1 3.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ACTTACTGTACGATATACGAA	0.353													T	38156507	C	T	38156507	3	4	127	1	0	0	0	0	1	0	0	0	12259	536	19	1	1178	1	POSTN	13	38156507	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	1380482	38156507	77013371	113	75617											
TRPC4	7223	broad.mit.edu	37	chr13	38211441	38211441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctatgaaataacccaaAgtttttgatatcggtcacaa	6	8	2	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr13:38211441A>G	uc001uws.2	-	11	2768	c.2533T>C	c.(2533-2535)TTT>CTT	p.F845L	TRPC4_uc010abv.2_Missense_Mutation_p.F425L|TRPC4_uc001uwt.2_Intron|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Missense_Mutation_p.F672L|TRPC4_uc010abx.2_Missense_Mutation_p.F850L|TRPC4_uc010aby.2_Intron	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	845	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AATAACCCAAAGTTTTTGATA	0.438													G	38211441	A	G	38211441	3	3	127	1	0	0	0	0	1	0	0	0	16577	72	3	3	404	3	TRPC4	13	38211441	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	54934	38211441	76958437	114	75618											
PCDH20	64881	broad.mit.edu	37	chr13	61986482	61986482	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aattcctgtgacactgtctaAggaaaaatatgatggagcat	9	6	1	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr13:61986482A>C	uc001vid.3	-	2	2114	c.1750T>G	c.(1750-1752)TTA>GTA	p.L584V	PCDH20_uc010thj.1_Missense_Mutation_p.L584V	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	557	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ACACTGTCTAAGGAAAAATAT	0.453													C	61986482	A	C	61986482	3	2	127	1	0	0	0	0	1	0	0	0	11515	69	3	5	1109	5	PCDH20	13	61986482	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	23775041	61986482	53183396	115	75619											
COL4A1	1282	broad.mit.edu	37	chr13	110827648	110827648	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcacctttgtctccaggtaAgccaggtgaaccttgtgggc	12	11	1	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr13:110827648A>C	uc001vqw.3	-	37	3237	c.3115T>G	c.(3115-3117)TTA>GTA	p.L1039V	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1039	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCTCCAGGTAAGCCAGGTGAA	0.537													C	110827648	A	C	110827648	3	2	127	1	0	0	0	0	1	0	0	0	3689	69	3	5	1958	5	COL4A1	13	110827648	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	48841166	110827648	4342230	116	75620											
OR4N4	283694	broad.mit.edu	37	chr15	22383054	22383054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgcaccgacatgtttgtGgtggagcttctaatggtctt	12	8	2	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr15:22383054G>A	uc001yuc.1	+	7	1563	c.582G>A	c.(580-582)GTG>GTA	p.V194V	LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Silent_p.V194V	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	194	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ACATGTTTGTGGTGGAGCTTC	0.527													A	22383054	G	A	22383054	2	1	127	1	0	0	0	0	0	0	0	1	11078	1335	47	4		4	OR4N4	15	22383054	Silent	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08		22383054	80148338	117	75621											
SPRED1	161742	broad.mit.edu	37	chr15	38643621	38643621	+	Frame_Shift_Del	DEL	A	A	-													ccctattaaaagatgcatatAtcaagttagttgcatgctct							TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr15:38643621delA	uc001zka.3	+	7	1426	c.1091delA	c.(1090-1092)TATfs	p.Y364fs		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	364	SPR.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGATGCATATATCAAGTTAGT	0.428									Legius_syndrome				-	38643621	A	-	38643621	7	5	127	1	0	1	0	1	0	0	0	0	15091	449	16	0	1117	0	SPRED1	15	38643621	Frame_Shift_Del	DEL	A	TCGA-BR-A4PD-01A-11D-A25D-08	16260567	38643621	63887771	118	75622											
CSK	1445	broad.mit.edu	37	chr15	75093259	75093259	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctggctgaagcctcagtcAtgacgtgagtgggggcgggg	18	9	2	3			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr15:75093259A>G	uc010bkb.1	+	9	901	c.718A>G	c.(718-720)ATG>GTG	p.M240V	CSK_uc002ays.2_Missense_Mutation_p.M240V|CSK_uc010bkc.1_Missense_Mutation_p.M49V	NM_001127190	NP_001120662	P41240	CSK_HUMAN	c-src tyrosine kinase	240	Protein kinase.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			lung(2)|central_nervous_system(1)	3						AGCCTCAGTCATGACGTGAGT	0.612													G	75093259	A	G	75093259	3	3	127	1	0	0	0	0	1	0	0	0	3943	217	8	3	744	3	CSK	15	75093259	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	36449638	75093259	27438133	119	75623											
SEMA4B	10509	broad.mit.edu	37	chr15	90770838	90770838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccaaggacctttgcagcGcgtcttcggttgtgtccccg	13	14	1	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr15:90770838G>A	uc002boy.2	+	14	2021	c.1738G>A	c.(1738-1740)GCG>ACG	p.A580T	SEMA4B_uc002boz.2_Missense_Mutation_p.A580T|SEMA4B_uc010uqd.1_Missense_Mutation_p.A418T|SEMA4B_uc002bpa.2_Missense_Mutation_p.A418T|SEMA4B_uc010bnv.1_Missense_Mutation_p.A218T	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCTTTGCAGCGCGTCTTCGGT	0.607													A	90770838	G	A	90770838	3	1	127	1	0	0	0	0	1	0	0	0	14032	1087	38	1	1788	1	SEMA4B	15	90770838	Missense_Mutation	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08	15677579	90770838	11760554	120	75624											
BTBD12	84464	broad.mit.edu	37	chr16	3640167	3640167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctagctccagctcctcatCcgagtccagtaagaggatga	9	12	2	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr16:3640167C>T	uc002cvp.2	-	12	4099	c.3472G>A	c.(3472-3474)GAT>AAT	p.D1158N		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1158	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						AGCTCCTCATCCGAGTCCAGT	0.448								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				T	3640167	C	T	3640167	3	4	127	1	0	0	0	0	1	0	0	0	1540	855	30	4	2048	4	BTBD12	16	3640167	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08		3640167	86714586	121	75625											
SMG1	23049	broad.mit.edu	37	chr16	18937330	18937330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgccgccgccgccgcTgctcagccgagaccccgggg	15	21	1	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr16:18937330T>C	uc002dfm.2	-	1	397	c.34A>G	c.(34-36)AGC>GGC	p.S12G		NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	12	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						ccgccgccgctgcTCAGCCGA	0.627													C	18937330	T	C	18937330	3	2	127	1	0	0	0	0	1	0	0	0	14795	1580	55	3	11203	3	SMG1	16	18937330	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	15297163	18937330	71417423	122	75626											
DNAH3	55567	broad.mit.edu	37	chr16	21060984	21060984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctttgtaatccaaaccatcgGagcagttgaagaccacacac	7	12	0	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr16:21060984G>T	uc010vbe.1	-	31	4367	c.4367C>A	c.(4366-4368)TCC>TAC	p.S1456Y		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1456	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CAAACCATCGGAGCAGTTGAA	0.507													T	21060984	G	T	21060984	3	4	127	1	0	0	0	0	1	0	0	0	4603	1174	41	5	8110	5	DNAH3	16	21060984	Missense_Mutation	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08	2123654	21060984	69293769	123	75627											
GTF3C1	2975	broad.mit.edu	37	chr16	27473757	27473757	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacaggaaggttcaggtggCcatccacgacacgccacggc	12	13	1	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr16:27473757C>A	uc002dov.1	-	36	6015	c.5975G>T	c.(5974-5976)GGC>GTC	p.G1992V	GTF3C1_uc002dou.2_Missense_Mutation_p.G1967V	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1992						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						GTTCAGGTGGCCATCCACGAC	0.627													A	27473757	C	A	27473757	3	1	127	1	0	0	0	0	1	0	0	0	6872	739	26	5	362	5	GTF3C1	16	27473757	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	6412773	27473757	62880996	124	75628											
ZNF785	146540	broad.mit.edu	37	chr16	30594001	30594001	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgccacgcgcgcctctcGctgcaggagcggtggatcca	14	15	1	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr16:30594001G>A	uc002dyw.1	-	3	1176	c.1098C>T	c.(1096-1098)AGC>AGT	p.S366S	uc002dyu.2_RNA|ZNF785_uc002dyv.1_Silent_p.S351S|ZNF785_uc010vez.1_Silent_p.S331S	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN	zinc finger protein 785	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CGCGCCTCTCGCTGCAGGAGC	0.642													A	30594001	G	A	30594001	2	1	127	1	0	0	0	0	0	0	0	1	18154	1078	38	1		1	ZNF785	16	30594001	Silent	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08	3120244	30594001	59760752	125	75629											
MYST1	84148	broad.mit.edu	37	chr16	31129170	31129170	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagccggaagtcacggtggaGatcggagaaacgtacctgtg	16	8	1	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr16:31129170G>C	uc002eay.2	+	1	186	c.168G>C	c.(166-168)GAG>GAC	p.E56D	MYST1_uc002eax.2_Missense_Mutation_p.E56D	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	MYST histone acetyltransferase 1 isoform 1	56					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding			ovary(1)	1						TCACGGTGGAGATCGGAGAAA	0.517													C	31129170	G	C	31129170	3	2	127	1	0	0	0	0	1	0	0	0	10102	933	33	5	170	5	MYST1	16	31129170	Missense_Mutation	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08	535169	31129170	59225583	126	75630											
VAT1L	57687	broad.mit.edu	37	chr16	77913091	77913091	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccaacatggtaactggagaGaccaagagcttcttcagctt	9	10	2	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr16:77913091G>A	uc002ffg.1	+	6	949	c.852G>A	c.(850-852)GAG>GAA	p.E284E		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport protein 1 homolog (T.	284							oxidoreductase activity|zinc ion binding			central_nervous_system(1)	1						TAACTGGAGAGACCAAGAGCT	0.378													A	77913091	G	A	77913091	2	1	127	1	0	0	0	0	0	0	0	1	17127	933	33	4		4	VAT1L	16	77913091	Silent	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08	46783921	77913091	12441662	127	75631											
PLCG2	5336	broad.mit.edu	37	chr16	81922830	81922830	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcggatgacaaagttcatTgatgacaccatgcgtgaaac	11	8	1	4			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr16:81922830T>G	uc002fgt.2	+	10	971	c.819T>G	c.(817-819)ATT>ATG	p.I273M	PLCG2_uc010chg.1_Missense_Mutation_p.I273M	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	273					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						CAAAGTTCATTGATGACACCA	0.458													G	81922830	T	G	81922830	3	3	127	1	0	0	0	0	1	0	0	0	12036	1800	63	5	853	5	PLCG2	16	81922830	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	4009739	81922830	8431923	128	75632											
SPIRE2	84501	broad.mit.edu	37	chr16	89916733	89916733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgcagtccctcggcttcGccatctaccgcgcgctggac	11	18	1	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr16:89916733G>A	uc002foz.1	+	3	362	c.310G>A	c.(310-312)GCC>ACC	p.A104T	SPIRE2_uc010civ.1_Missense_Mutation_p.A19T|SPIRE2_uc010ciw.1_Missense_Mutation_p.A104T|SPIRE2_uc002fpa.1_Missense_Mutation_p.A56T|SPIRE2_uc010cix.1_5'UTR	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	spire homolog 2	104	KIND.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)	1		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CCTCGGCTTCGCCATCTACCG	0.701													A	89916733	G	A	89916733	3	1	127	1	0	0	0	0	1	0	0	0	15071	1087	38	1	320	1	SPIRE2	16	89916733	Missense_Mutation	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08	7993903	89916733	438020	129	75633											
TSR1	55720	broad.mit.edu	37	chr17	2235606	2235606	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcatcatgcacagactcCccaatagtcatagtttcata	5	11	4	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr17:2235606C>T	uc002fuj.2	-	8	2310	c.1353G>A	c.(1351-1353)GGG>GGA	p.G451G	SNORD91A_uc002ful.1_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation	451	Glu-rich.				ribosome assembly	nucleolus	protein binding			ovary(1)	1						GCACAGACTCCCCAATAGTCA	0.373													T	2235606	C	T	2235606	2	4	127	1	0	0	0	0	0	0	0	1	16661	610	22	4		4	TSR1	17	2235606	Silent	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08		2235606	78959604	130	75634											
TP53	7157	broad.mit.edu	37	chr17	7579414	7579414	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacagaagatgacaggggCcaggagggggctggtgcagg	22	6	0	3			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr17:7579414C>T	uc002gim.2	-	4	467	c.273G>A	c.(271-273)TGG>TGA	p.W91*	TP53_uc002gig.1_Nonsense_Mutation_p.W91*|TP53_uc002gih.2_Nonsense_Mutation_p.W91*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.W91*|TP53_uc010cni.1_Nonsense_Mutation_p.W91*|TP53_uc002gij.2_Nonsense_Mutation_p.W91*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.W52*|TP53_uc010cnk.1_Nonsense_Mutation_p.W106*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	91	Interaction with WWOX.		W -> C (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.W91*(11)|p.0?(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.P92fs*57(1)|p.W91fs*57(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGACAGGGGCCAGGAGGGGG	0.627		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7579414	C	T	7579414	4	4	127	1	0	0	0	0	0	1	0	0	16378	740	26	2	1029	2	TP53	17	7579414	Nonsense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	5343808	7579414	73615796	131	75635											
MYH13	8735	broad.mit.edu	37	chr17	10215932	10215932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtccagtgtggcacaggCggtgtgggagcgctccagat	16	10	0	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr17:10215932C>T	uc002gmk.1	-	31	4414	c.4324G>A	c.(4324-4326)GCC>ACC	p.A1442T		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1442	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GTGGCACAGGCGGTGTGGGAG	0.557													T	10215932	C	T	10215932	3	4	127	1	0	0	0	0	1	0	0	0	10032	768	27	1	1536	1	MYH13	17	10215932	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	2636518	10215932	70979278	132	75636											
DNAH9	1770	broad.mit.edu	37	chr17	11687713	11687713	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcatctgaagctcggaaacTtcccggcgtccctgcagaaa	10	13	1	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr17:11687713T>G	uc002gne.2	+	41	7986	c.7918T>G	c.(7918-7920)TTC>GTC	p.F2640V	DNAH9_uc010coo.2_Missense_Mutation_p.F1934V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2640	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTCGGAAACTTCCCGGCGTC	0.547													G	11687713	T	G	11687713	3	3	127	1	0	0	0	0	1	0	0	0	4608	1609	56	5	8080	5	DNAH9	17	11687713	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	1471781	11687713	69507497	133	75637											
UTP6	55813	broad.mit.edu	37	chr17	30205307	30205307	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttctgacagaagcttcagttCatgtgccttcctgaatacag	8	10	3	3			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr17:30205307C>G	uc002hgr.2	-	13	1170	c.1087G>C	c.(1087-1089)GAA>CAA	p.E363Q	UTP6_uc002hgq.2_Missense_Mutation_p.E179Q|UTP6_uc010cst.2_Missense_Mutation_p.E212Q	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	hepatocellular carcinoma-associated antigen 66	363					rRNA processing	nucleolus	binding			ovary(1)	1		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				AGCTTCAGTTCATGTGCCTTC	0.423													G	30205307	C	G	30205307	3	3	127	1	0	0	0	0	1	0	0	0	17099	835	29	5	734	5	UTP6	17	30205307	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	18517594	30205307	50989903	134	75638											
SDK2	54549	broad.mit.edu	37	chr17	71361524	71361524	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacttgaccgagctgggAgcgctgggggctgcgggaga	19	9	0	3			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr17:71361524A>G	uc010dfm.2	-	38	5178	c.5178T>C	c.(5176-5178)GCT>GCC	p.A1726A	SDK2_uc002jjt.3_Silent_p.A866A|SDK2_uc010dfn.2_Silent_p.A1405A	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1726	Extracellular (Potential).|Fibronectin type-III 12.				cell adhesion	integral to membrane				ovary(2)	2						CCGAGCTGGGAGCGCTGGGGG	0.577													G	71361524	A	G	71361524	2	3	127	1	0	0	0	0	0	0	0	1	13969	291	11	3		3	SDK2	17	71361524	Silent	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	41156217	71361524	9833686	135	75639											
DLGAP1	9229	broad.mit.edu	37	chr18	3729300	3729300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaggtccagcgcttccaCggcctgcgactccagctcgc	13	17	0	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr18:3729300C>T	uc002kmf.2	-	4	1493	c.1426G>A	c.(1426-1428)GTG>ATG	p.V476M	DLGAP1_uc010wyz.1_Missense_Mutation_p.V476M|DLGAP1_uc002kme.1_Missense_Mutation_p.V174M|DLGAP1_uc010dkn.2_Missense_Mutation_p.V174M|DLGAP1_uc010wyw.1_Missense_Mutation_p.V182M|DLGAP1_uc010wyx.1_Missense_Mutation_p.V188M|DLGAP1_uc010wyy.1_Missense_Mutation_p.V188M|DLGAP1_uc002kmg.2_Missense_Mutation_p.V174M|DLGAP1_uc002kmk.2_Missense_Mutation_p.V476M	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	476					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				AGCGCTTCCACGGCCTGCGAC	0.642													T	3729300	C	T	3729300	3	4	127	1	0	0	0	0	1	0	0	0	4559	536	19	1	1535	1	DLGAP1	18	3729300	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08		3729300	74347948	136	75640											
SERPINB7	8710	broad.mit.edu	37	chr18	61465873	61465873	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattggtgaaggtggcataAgctcatctgctgtaatggtg	14	5	2	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr18:61465873A>G	uc002ljl.2	+	6	586	c.490A>G	c.(490-492)AGC>GGC	p.S164G	SERPINB7_uc002ljm.2_Missense_Mutation_p.S164G|SERPINB7_uc010xet.1_Missense_Mutation_p.S147G|SERPINB7_uc010dqg.2_Missense_Mutation_p.S164G	NM_001040147	NP_001035237	O75635	SPB7_HUMAN	serine (or cysteine) proteinase inhibitor, clade	164					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			lung(2)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)				AGGTGGCATAAGCTCATCTGC	0.338													G	61465873	A	G	61465873	3	3	127	1	0	0	0	0	1	0	0	0	14106	72	3	3	508	3	SERPINB7	18	61465873	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	57736573	61465873	16611375	137	75641											
PTPRS	5802	broad.mit.edu	37	chr19	5221118	5221118	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgagcaggttgaaggcagtCcaggcggtgaccgtctgctg	16	9	1	3			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr19:5221118C>T	uc002mbv.2	-	20	3582	c.3348G>A	c.(3346-3348)TGG>TGA	p.W1116*	PTPRS_uc002mbu.1_Nonsense_Mutation_p.W685*|PTPRS_uc010xin.1_Nonsense_Mutation_p.W685*|PTPRS_uc002mbw.2_Nonsense_Mutation_p.W1094*|PTPRS_uc002mbx.2_Nonsense_Mutation_p.W689*|PTPRS_uc002mby.2_Nonsense_Mutation_p.W685*	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1116	Extracellular (Potential).|Fibronectin type-III 8.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TGAAGGCAGTCCAGGCGGTGA	0.622													T	5221118	C	T	5221118	4	4	127	1	0	0	0	0	0	1	0	0	12811	856	30	4	2574	4	PTPRS	19	5221118	Nonsense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08		5221118	53907865	138	75642											
XAB2	56949	broad.mit.edu	37	chr19	7689226	7689226	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccgaggcggtctccatctTtgcagcgatcatgctctcct	9	15	4	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr19:7689226T>C	uc002mgx.2	-	7	954	c.928A>G	c.(928-930)AAG>GAG	p.K310E		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	310					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						GTCTCCATCTTTGCAGCGATC	0.642								Direct_reversal_of_damage|NER					C	7689226	T	C	7689226	3	2	127	1	0	0	0	0	1	0	0	0	17415	1850	64	3	1691	3	XAB2	19	7689226	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	2468108	7689226	51439757	139	75643											
TMED1	11018	broad.mit.edu	37	chr19	10943724	10943724	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcttgagcgtgcagacctGcagcacagccaccagcagca	12	15	0	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr19:10943724G>A	uc002mpy.2	-	4	747	c.631C>T	c.(631-633)CAG>TAG	p.Q211*	DNM2_uc002mpx.1_3'UTR	NM_006858	NP_006849	Q13445	TMED1_HUMAN	interleukin 1 receptor-like 1 ligand precursor	211	Helical; (Potential).				cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding			ovary(2)|breast(1)|central_nervous_system(1)	4						GTGCAGACCTGCAGCACAGCC	0.632													A	10943724	G	A	10943724	4	1	127	1	0	0	0	0	0	1	0	0	15999	1328	46	2	56	2	TMED1	19	10943724	Nonsense_Mutation	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08	3254498	10943724	48185259	140	75644											
ZNF208	7757	broad.mit.edu	37	chr19	22170054	22170054	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catctcatgtctcttcatatTccaggactcttttccttcct	3	14	4	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr19:22170054T>G	uc002nqp.2	-	3	339	c.190A>C	c.(190-192)AAT>CAT	p.N64H	ZNF208_uc002nqo.1_Missense_Mutation_p.N64H|ZNF208_uc002nqq.2_RNA	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTCTTCATATTCCAGGACTCT	0.423													G	22170054	T	G	22170054	3	3	127	1	0	0	0	0	1	0	0	0	17763	1783	62	5	3660	5	ZNF208	19	22170054	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	11226330	22170054	36958929	141	75645											
ZNF98	148198	broad.mit.edu	37	chr19	22586215	22586215	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaccaggtttctgtagttctCtaacatcacattcctatata	5	10	3	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr19:22586215C>T	uc002nqt.2	-	2	252	c.130G>A	c.(130-132)GAG>AAG	p.E44K		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CTGTAGTTCTCTAACATCACA	0.388													T	22586215	C	T	22586215	3	4	127	1	0	0	0	0	1	0	0	0	18200	922	32	4	1600	4	ZNF98	19	22586215	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	416161	22586215	36542768	142	75646											
PAFAH1B3	5050	broad.mit.edu	37	chr19	42801375	42801375	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acatgtcatgatggctgatgGtgccatctgagtgcacaaag	12	8	2	3			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr19:42801375G>C	uc002otg.2	-	5	886	c.551C>G	c.(550-552)ACC>AGC	p.T184S	PAFAH1B3_uc010xwi.1_Missense_Mutation_p.T184S|PAFAH1B3_uc010xwj.1_Missense_Mutation_p.T184S	NM_002573	NP_002564	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase,	184					lipid catabolic process|nervous system development	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding				0		Prostate(69;0.0704)				ATGGCTGATGGTGCCATCTGA	0.607													C	42801375	G	C	42801375	3	2	127	1	0	0	0	0	1	0	0	0	11386	1261	44	5	148	5	PAFAH1B3	19	42801375	Missense_Mutation	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08	20215160	42801375	16327608	143	75647											
SIGLEC6	946	broad.mit.edu	37	chr19	52034441	52034441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgcacagagagcttggaagAtgtataaccgtatttcatcc	9	9	1	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr19:52034441A>G	uc002pwy.2	-	2	562	c.400T>C	c.(400-402)TCT>CCT	p.S134P	SIGLEC6_uc002pwz.2_Missense_Mutation_p.S134P|SIGLEC6_uc002pxa.2_Missense_Mutation_p.S134P|SIGLEC6_uc010ydb.1_Missense_Mutation_p.S87P|SIGLEC6_uc010ydc.1_Missense_Mutation_p.S123P|SIGLEC6_uc010eoz.1_Missense_Mutation_p.S123P|SIGLEC6_uc010epb.1_Missense_Mutation_p.S87P|SIGLEC6_uc010epa.1_Missense_Mutation_p.S123P	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	134	Extracellular (Potential).				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				ovary(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGCTTGGAAGATGTATAACCG	0.552													G	52034441	A	G	52034441	3	3	127	1	0	0	0	0	1	0	0	0	14312	333	12	3	1022	3	SIGLEC6	19	52034441	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	9233066	52034441	7094542	144	75648											
ZNF677	342926	broad.mit.edu	37	chr19	53741537	53741541	+	Frame_Shift_Del	DEL	CTCTG	CTCTG	-													cactatctcttatagaaacaCtctgctttaaagagaaatgt					rs141331857		TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr19:53741537_53741541delCTCTG	uc002qbf.1	-	5	624_628	c.439_443delCAGAG	c.(439-444)CAGAGTfs	p.Q147fs	ZNF677_uc002qbg.1_Frame_Shift_Del_p.Q147fs	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	147_148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)		TATAGAAACACTCTGCTTTAAAGAG	0.317													-	53741541	CTCTG	-	53741537	7	5	127	1	0	1	0	1	0	0	0	0	18081	565	20	0	1315	0	ZNF677	19	53741537	Frame_Shift_Del	DEL	CTCTG	TCGA-BR-A4PD-01A-11D-A25D-08	1707096	53741537	5387446	145	75649											
KIR2DS4	3809	broad.mit.edu	37	chr19	55349043	55349043	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttcctaggagtccacagaaAaccttccttcctggccctcc	6	17	0	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr19:55349043A>T	uc002qhm.1	+	3	129	c.83A>T	c.(82-84)AAA>ATA	p.K28I	KIR2DS4_uc010yfj.1_Missense_Mutation_p.K21I|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Missense_Mutation_p.K28I|KIR2DS4_uc002qhn.1_5'UTR	NM_012314	NP_036446	P43632	KI2S4_HUMAN	killer cell immunoglobulin-like receptor, two	28	Extracellular (Potential).					integral to plasma membrane	receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		GTCCACAGAAAACCTTCCTTC	0.507													T	55349043	A	T	55349043	3	4	127	1	0	0	0	0	1	0	0	0	8319	14	1	5	93	5	KIR2DS4	19	55349043	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	1607506	55349043	3779940	146	75650											
ZNF471	57573	broad.mit.edu	37	chr19	57027765	57027765	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaactatcagagcctggtatCacttggtgaggatcttttcc	10	9	3	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr19:57027765C>T	uc002qnh.2	+	3	288	c.155C>T	c.(154-156)TCA>TTA	p.S52L		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AGCCTGGTATCACTTGGTGAG	0.378													T	57027765	C	T	57027765	3	4	127	1	0	0	0	0	1	0	0	0	17927	838	29	4	161	4	ZNF471	19	57027765	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	1678722	57027765	2101218	147	75651											
ZNF416	55659	broad.mit.edu	37	chr19	58084403	58084403	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcctttctccagtgtggattCtccgatgatcattcagatga	9	10	4	3			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr19:58084403C>G	uc002qpf.2	-	4	1040	c.869G>C	c.(868-870)AGA>ACA	p.R290T	ZNF547_uc002qpm.3_Intron	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	290	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AGTGTGGATTCTCCGATGATC	0.458													G	58084403	C	G	58084403	3	3	127	1	0	0	0	0	1	0	0	0	17890	913	32	5	919	5	ZNF416	19	58084403	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	1056638	58084403	1044580	148	75652											
ZNF446	55663	broad.mit.edu	37	chr19	58989171	58989171	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtgtgaaggaggagccCaatgtcgatggacaggaagt	16	6	0	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr19:58989171C>T	uc002qsz.2	+	3	627	c.510C>T	c.(508-510)CCC>CCT	p.P170P	ZNF446_uc002qta.2_Silent_p.P170P|ZNF446_uc010eur.2_Silent_p.P170P	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	170					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGGAGGAGCCCAATGTCGATG	0.622													T	58989171	C	T	58989171	2	4	127	1	0	0	0	0	0	0	0	1	17916	581	21	4		4	ZNF446	19	58989171	Silent	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	904768	58989171	139812	149	75653											
PRND	23627	broad.mit.edu	37	chr20	4705530	4705530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaccggctgcatcaatgcCacccaggcggcgaaccaggg	13	15	2	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr20:4705530C>T	uc002wkz.2	+	2	404	c.333C>T	c.(331-333)GCC>GCT	p.A111A		NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	prion-like protein doppel preproprotein	111	Globular.				protein homooligomerization	anchored to membrane|plasma membrane					0						GCATCAATGCCACCCAGGCGG	0.597													T	4705530	C	T	4705530	2	4	127	1	0	0	0	0	0	0	0	1	12543	581	21	4		4	PRND	20	4705530	Silent	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08		4705530	58319990	150	75654											
BPIL3	128859	broad.mit.edu	37	chr20	31623461	31623461	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgtatgtgaacaggaAgtggaccaacctcagtggtg	14	8	1	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr20:31623461A>C	uc010zuc.1	+	6	560	c.560A>C	c.(559-561)AAG>ACG	p.K187T	BPIL3_uc010zud.1_Missense_Mutation_p.K126T	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	bactericidal/permeability-increasing	187						extracellular region	lipid binding			ovary(1)|pancreas(1)	2						GTGAACAGGAAGTGGACCAAC	0.547													C	31623461	A	C	31623461	3	2	127	1	0	0	0	0	1	0	0	0	1493	72	3	5	582	5	BPIL3	20	31623461	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	26917931	31623461	31402059	151	75655											
PABPC1L	80336	broad.mit.edu	37	chr20	43552831	43552831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtatgtgaagaatctggaCgactccattgatgacgacaa	10	7	1	4			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr20:43552831C>T	uc010ggv.1	+	7	988	c.906C>T	c.(904-906)GAC>GAT	p.D302D	PABPC1L_uc010zwq.1_RNA|PABPC1L_uc002xmv.2_RNA	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	poly(A)-binding protein, cytoplasmic 1-like	302	RRM 4.						nucleotide binding|RNA binding			ovary(1)	1						AGAATCTGGACGACTCCATTG	0.542													T	43552831	C	T	43552831	2	4	127	1	0	0	0	0	0	0	0	1	11364	535	19	1		1	PABPC1L	20	43552831	Silent	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	11929370	43552831	19472689	152	75656											
CASS4	57091	broad.mit.edu	37	chr20	55027331	55027331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcaggctgggaaggagctgGagaaagccaaggaggtgtca	17	7	2	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr20:55027331G>A	uc002xxp.2	+	6	1324	c.1099G>A	c.(1099-1101)GAG>AAG	p.E367K	CASS4_uc002xxq.3_Missense_Mutation_p.E367K|CASS4_uc002xxr.2_Missense_Mutation_p.E367K|CASS4_uc010zze.1_Missense_Mutation_p.E313K|CASS4_uc010gio.2_Intron	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	367					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						GAAGGAGCTGGAGAAAGCCAA	0.507													A	55027331	G	A	55027331	3	1	127	1	0	0	0	0	1	0	0	0	2683	1175	41	4	1117	4	CASS4	20	55027331	Missense_Mutation	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08	11474500	55027331	7998189	153	75657											
MYT1	4661	broad.mit.edu	37	chr20	62848549	62848549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaggtcacctttgactaCgcaagtttcgatgctcaggt	9	11	2	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr20:62848549C>T	uc002yii.2	+	11	2125	c.1761C>T	c.(1759-1761)TAC>TAT	p.Y587Y	MYT1_uc002yih.2_Silent_p.Y289Y|MYT1_uc002yij.2_Silent_p.Y219Y	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	587					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCTTTGACTACGCAAGTTTCG	0.542													T	62848549	C	T	62848549	2	4	127	1	0	0	0	0	0	0	0	1	10106	547	19	1		1	MYT1	20	62848549	Silent	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	7821218	62848549	176971	154	75658											
ADAMTS1	9510	broad.mit.edu	37	chr21	28216851	28216851	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcgccgcgcacgccctcgcaGaggctgagggcggcagccga	17	16	0	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr21:28216851G>A	uc002ymf.2	-	1	878	c.423C>T	c.(421-423)CTC>CTT	p.L141L		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	141					integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		CGCCCTCGCAGAGGCTGAGGG	0.716											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	28216851	G	A	28216851	2	1	127	1	0	0	0	0	0	0	0	1	255	929	33	4		4	ADAMTS1	21	28216851	Silent	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08		28216851	19913044	155	75659											
SUSD2	56241	broad.mit.edu	37	chr22	24582117	24582117	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgcgggcccagcccgggacGatgtccaacggtgaggccag	17	14	0	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr22:24582117G>A	uc002zzn.1	+	9	1517	c.1473G>A	c.(1471-1473)ACG>ACA	p.T491T		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	491	VWFD.|Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						AGCCCGGGACGATGTCCAACG	0.662													A	24582117	G	A	24582117	2	1	127	1	0	0	0	0	0	0	0	1	15405	1045	37	1		1	SUSD2	22	24582117	Silent	SNP	G	TCGA-BR-A4PD-01A-11D-A25D-08		24582117	26722449	156	75660											
SF3A1	10291	broad.mit.edu	37	chr22	30731741	30731741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactttgatggacactggaCcctacaaaacaggaggtggt	13	8	0	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr22:30731741C>T	uc003ahl.2	-	14	2240	c.2108G>A	c.(2107-2109)GGT>GAT	p.G703D		NM_005877	NP_005868	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa isoform 1	703					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			ovary(3)|large_intestine(1)|pancreas(1)	5						GGACACTGGACCCTACAAAAC	0.537													T	30731741	C	T	30731741	3	4	127	1	0	0	0	0	1	0	0	0	14146	521	18	4	285	4	SF3A1	22	30731741	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	6149624	30731741	20572825	157	75661											
TNFRSF13C	115650	broad.mit.edu	37	chr22	42322215	42322215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccaggaccagtgccaggCccagcagcgcgggggcgcca	17	16	0	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr22:42322215C>T	uc003bbl.2	-	2	301	c.257G>A	c.(256-258)GGC>GAC	p.G86D	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Missense_Mutation_p.G87D	NM_052945	NP_443177	Q96RJ3	TR13C_HUMAN	BAFF receptor	86	Helical; Signal-anchor for type III membrane protein; (Potential).					integral to membrane	receptor activity				0						cagtgccaggcccagcAGCGC	0.657													T	42322215	C	T	42322215	3	4	127	1	0	0	0	0	1	0	0	0	16285	739	26	2	305	2	TNFRSF13C	22	42322215	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	11590474	42322215	8982351	158	75662											
PRR5	55615	broad.mit.edu	37	chr22	45132666	45132666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagaaaagcgcctcctcCgccgctcccgctcgggggac	11	20	0	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr22:45132666C>T	uc003bfb.1	+	8	978	c.706C>T	c.(706-708)CGC>TGC	p.R236C	PRR5_uc003bew.1_Missense_Mutation_p.R227C|PRR5_uc003bex.1_Missense_Mutation_p.R141C|PRR5_uc010gzt.1_Missense_Mutation_p.R259C|PRR5_uc010gzu.1_Missense_Mutation_p.R200C|PRR5_uc003bey.1_Missense_Mutation_p.R227C|PRR5_uc003bez.1_Missense_Mutation_p.R141C|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc003bfd.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Missense_Mutation_p.R129C|PRR5_uc003bfe.1_RNA|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Missense_Mutation_p.R135C	NM_181333	NP_851850	P85299	PRR5_HUMAN	proline rich 5 (renal) isoform 1	236					cell cycle					skin(1)	1		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		GCGCCTCCTCCGCCGCTCCCG	0.677													T	45132666	C	T	45132666	3	4	127	1	0	0	0	0	1	0	0	0	12600	652	23	1	736	1	PRR5	22	45132666	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	2810451	45132666	6171900	159	75663											
CELSR1	9620	broad.mit.edu	37	chr22	46776852	46776852	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgggccggtgaggcaaCctgaggtcaagaagccagag	16	8	1	5			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr22:46776852C>T	uc003bhw.1	-	22	7089	c.7089G>A	c.(7087-7089)CGG>CGA	p.R2363R	CELSR1_uc011arc.1_Silent_p.R684R	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2363	Extracellular (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGTGAGGCAACCTGAGGTCAA	0.592													T	46776852	C	T	46776852	2	4	127	1	0	0	0	0	0	0	0	1	3221	521	18	4		4	CELSR1	22	46776852	Silent	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	1644186	46776852	4527714	160	75664											
SFRS17A	8227	broad.mit.edu	37	chrX	1712436	1712436	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcttgtacctgaagcccatCaccaagatgaccatcagcgt	9	13	2	3			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:1712436C>T	uc004cqa.2	+	2	277	c.81C>T	c.(79-81)ATC>ATT	p.I27I	SFRS17A_uc010ncx.1_Silent_p.I27I|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	27					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGAAGCCCATCACCAAGATGA	0.622													T	1712436	C	T	1712436	2	4	127	1	0	0	0	0	0	0	0	1	14173	816	29	4		4	SFRS17A	23	1712436	Silent	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08		1712436	153558124	161	75665											
GPM6B	2824	broad.mit.edu	37	chrX	13803813	13803813	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatcgccacggtgcctgcgAgagccacatgcccacagccg	12	16	0	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:13803813A>G	uc004cvz.2	-	2	467	c.176T>C	c.(175-177)CTC>CCC	p.L59P	GPM6B_uc004cvx.2_Missense_Mutation_p.L40P|GPM6B_uc011min.1_5'UTR|GPM6B_uc004cwa.2_Missense_Mutation_p.L40P|GPM6B_uc004cvw.2_Missense_Mutation_p.L99P|GPM6B_uc011mim.1_Missense_Mutation_p.L73P|GPM6B_uc004cvy.2_Missense_Mutation_p.L99P	NM_005278	NP_005269	Q13491	GPM6B_HUMAN	glycoprotein M6B isoform 3	59					cell differentiation|nervous system development	integral to membrane					0						GGTGCCTGCGAGAGCCACATG	0.582													G	13803813	A	G	13803813	3	3	127	1	0	0	0	0	1	0	0	0	6616	304	11	3	799	3	GPM6B	23	13803813	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	12091377	13803813	141466747	162	75666											
MID1IP1	58526	broad.mit.edu	37	chrX	38664471	38664471	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgggacatgtacagccactAcgtgcttctcaagtccatcc	8	14	1	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:38664471A>G	uc004dei.3	+	3	696	c.272A>G	c.(271-273)TAC>TGC	p.Y91C	MID1IP1_uc010ngz.2_Missense_Mutation_p.Y91C|MID1IP1_uc004dej.3_Missense_Mutation_p.Y91C	NM_001098790	NP_001092260	Q9NPA3	M1IP1_HUMAN	MID1 interacting G12-like protein	91					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus					0						TACAGCCACTACGTGCTTCTC	0.667													G	38664471	A	G	38664471	3	3	127	1	0	0	0	0	1	0	0	0	9577	391	14	3	274	3	MID1IP1	23	38664471	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	24860658	38664471	116606089	163	75667											
HUWE1	10075	broad.mit.edu	37	chrX	53622292	53622292	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggctccttctctggcggaCaggagatcccacacaaagtt	10	12	1	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:53622292C>A	uc004dsp.2	-	30	3637	c.3235G>T	c.(3235-3237)GTC>TTC	p.V1079F	HUWE1_uc004dsn.2_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	1079					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CTCTGGCGGACAGGAGATCCC	0.517													A	53622292	C	A	53622292	3	1	127	1	0	0	0	0	1	0	0	0	7461	478	17	5	10109	5	HUWE1	23	53622292	Missense_Mutation	SNP	C	TCGA-BR-A4PD-01A-11D-A25D-08	14957821	53622292	101648268	164	75668											
TRO	7216	broad.mit.edu	37	chrX	54949090	54949090	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccacagaagaggacagtgTcctgctgatgcataccctgt	11	11	0	3			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:54949090T>G	uc004dtq.2	+	3	232	c.125T>G	c.(124-126)GTC>GGC	p.V42G	TRO_uc011moj.1_5'UTR|TRO_uc004dts.2_Missense_Mutation_p.V42G|TRO_uc004dtr.2_Missense_Mutation_p.V42G|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	42					embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						GAGGACAGTGTCCTGCTGATG	0.577													G	54949090	T	G	54949090	3	3	127	1	0	0	0	0	1	0	0	0	16571	1667	58	5	131	5	TRO	23	54949090	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	1326798	54949090	100321470	165	75669											
OPHN1	4983	broad.mit.edu	37	chrX	67273537	67273537	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccacaatatctggctttggTtctggcttttggggagtagc	13	8	2	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:67273537T>G	uc004dww.3	-	22	2568	c.2274A>C	c.(2272-2274)GAA>GAC	p.E758D	OPHN1_uc011mpg.1_Missense_Mutation_p.E650D	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	758	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2						CTGGCTTTGGTTCTGGCTTTT	0.552													G	67273537	T	G	67273537	3	3	127	1	0	0	0	0	1	0	0	0	10875	1722	60	5	146	5	OPHN1	23	67273537	Missense_Mutation	SNP	T	TCGA-BR-A4PD-01A-11D-A25D-08	12324447	67273537	87997023	166	75670											
TAF1	6872	broad.mit.edu	37	chrX	70627984	70627984	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggagctaattgtgaaaaAtagtgcaacctacaatggta	9	6	1	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:70627984A>C	uc004dzu.3	+	28	4415	c.4364A>C	c.(4363-4365)AAT>ACT	p.N1455T	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.N1476T|TAF1_uc004dzv.3_Missense_Mutation_p.N629T|TAF1_uc010nld.1_RNA|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_5'UTR|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1455	Bromo 1.|Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				ATTGTGAAAAATAGTGCAACC	0.448													C	70627984	A	C	70627984	3	2	127	1	0	0	0	0	1	0	0	0	15510	101	4	5	4537	5	TAF1	23	70627984	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	3354447	70627984	84642576	167	75671											
ACRC	93953	broad.mit.edu	37	chrX	70824126	70824126	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaatagtgatgatttggaAgttcctgtgccagcagaaga	12	6	0	4			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:70824126A>C	uc004eae.2	+	8	1500	c.999A>C	c.(997-999)GAA>GAC	p.E333D	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	333						nucleus				ovary(3)	3	Renal(35;0.156)					ATGATTTGGAAGTTCCTGTGC	0.468													C	70824126	A	C	70824126	3	2	127	1	0	0	0	0	1	0	0	0	171	69	3	5	1025	5	ACRC	23	70824126	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	196142	70824126	84446434	168	75672											
CYLC1	1538	broad.mit.edu	37	chrX	83128921	83128921	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagaaaaaggatgcaaagaAaattacattctctactgatt	6	6	1	3			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:83128921A>C	uc004eei.1	+	4	1226	c.1205A>C	c.(1204-1206)AAA>ACA	p.K402T	CYLC1_uc004eeh.1_Missense_Mutation_p.K401T	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	402	4.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						GATGCAAAGAAAATTACATTC	0.318													C	83128921	A	C	83128921	3	2	127	1	0	0	0	0	1	0	0	0	4141	14	1	5	1219	5	CYLC1	23	83128921	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	12304795	83128921	72141639	169	75673											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177518	89177518	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaggcgtctgtgccggccaAgtcagggcccagtggtccag	16	13	2	0			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:89177518A>G	uc004efe.2	+	2	483	c.434A>G	c.(433-435)AAG>AGG	p.K145R		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	145						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						GTGCCGGCCAAGTCAGGGCCC	0.592													G	89177518	A	G	89177518	3	3	127	1	0	0	0	0	1	0	0	0	15824	72	3	3	436	3	TGIF2LX	23	89177518	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	6048597	89177518	66093042	170	75674											
GABRQ	55879	broad.mit.edu	37	chrX	151821216	151821216	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgatctcccctccacctcAgagcaggcccggcacagcta	9	18	2	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:151821216A>G	uc004ffp.1	+	9	1391	c.1371A>G	c.(1369-1371)TCA>TCG	p.S457S		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	457						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCACCTCAGAGCAGGCCC	0.597													G	151821216	A	G	151821216	2	3	127	1	0	0	0	0	0	0	0	1	6175	175	7	3		3	GABRQ	23	151821216	Silent	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	62643698	151821216	3449344	171	75675											
MAGEA12	4111	broad.mit.edu	37	chrX	151900086	151900086	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagcttcctgggatgcgcaaAgacactgtcctccctcccat	8	16	0	1			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:151900086A>T	uc010ntp.2	-	3	1069	c.715T>A	c.(715-717)TTT>ATT	p.F239I	MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.F239I	NM_005367	NP_005358	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	239	MAGE.									skin(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					GGATGCGCAAAGACACTGTCC	0.567													T	151900086	A	T	151900086	3	4	127	1	0	0	0	0	1	0	0	0	9166	72	3	5	233	5	MAGEA12	23	151900086	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	78870	151900086	3370474	172	75676											
CTAG2	30848	broad.mit.edu	37	chrX	153881527	153881527	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acagaacaggatacaactgaAgcaggcggctgtccggcctc	12	12	0	2			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:153881527A>T	uc004fmi.1	-	1	316	c.263T>A	c.(262-264)CTT>CAT	p.L88H	CTAG2_uc004fmh.1_Missense_Mutation_p.L88H	NM_020994	NP_066274	O75638	CTAG2_HUMAN	cancer/testis antigen 2 isoform LAGE-1b	88						centrosome				pancreas(1)	1	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATACAACTGAAGCAGGCGGCT	0.607													T	153881527	A	T	153881527	3	4	127	1	0	0	0	0	1	0	0	0	3991	72	3	5	516	5	CTAG2	23	153881527	Missense_Mutation	SNP	A	TCGA-BR-A4PD-01A-11D-A25D-08	1981441	153881527	1389033	173	75677											
TP73	7161	broad.mit.edu	37	chr1	3638768	3638768	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agctcgggagggacttcaacGaaggtgagggcccccagctc	15	12	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:3638768G>T	uc001akp.2	+	5	723	c.613G>T	c.(613-615)GAA>TAA	p.E205*	TP73_uc001akq.2_Nonsense_Mutation_p.E205*|TP73_uc010nzj.1_Nonsense_Mutation_p.E156*|TP73_uc001akr.2_Nonsense_Mutation_p.E156*|TP73_uc009vlk.1_Nonsense_Mutation_p.E156*|TP73_uc001aks.2_Nonsense_Mutation_p.E156*|TP73_uc010nzk.1_Nonsense_Mutation_p.E134*	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	205	DNA-binding (Potential).				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GGACTTCAACGAAGGTGAGGG	0.652													T	3638768	G	T	3638768	4	4	128	1	0	0	0	0	0	1	0	0	16390	1059	37	5	670	5	TP73	1	3638768	Nonsense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08		3638768	245611853	1	75678											
PRAMEF18	391003	broad.mit.edu	37	chr1	13695903	13695903	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcccacagtccactaagaaGagggtctgaagagtggcagc	12	10	1	4			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:13695903G>T	uc009vny.1	-	3	1109	c.1062C>A	c.(1060-1062)CTC>CTA	p.L354L		NM_001099850	NP_001093320	Q5VWM3	PRA18_HUMAN	PRAME family member 18	354											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCACTAAGAAGAGGGTCTGAA	0.542													T	13695903	G	T	13695903	2	4	128	1	0	0	0	0	0	0	0	1	12433	929	33	5		5	PRAMEF18	1	13695903	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	10057135	13695903	235554718	2	75679											
CLCNKB	1188	broad.mit.edu	37	chr1	16374433	16374433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtgaagaccatgttggCgggtgtggtcttggaggact	19	5	1	2	rs145962381		TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:16374433C>T	uc001axw.3	+	5	472	c.392C>T	c.(391-393)GCG>GTG	p.A131V	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.A131V|CLCNKB_uc001axy.3_5'Flank	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	131					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ACCATGTTGGCGGGTGTGGTC	0.587													T	16374433	C	T	16374433	3	4	128	1	0	0	0	0	1	0	0	0	3470	768	27	1	406	1	CLCNKB	1	16374433	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	2678530	16374433	232876188	3	75680											
PADI4	23569	broad.mit.edu	37	chr1	17690151	17690151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagtgcaccttcatcaaCgacttcttcacctaccacat	3	17	4	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:17690151C>T	uc001baj.2	+	16	1921	c.1893C>T	c.(1891-1893)AAC>AAT	p.N631N		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	631					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCTTCATCAACGACTTCTTCA	0.612													T	17690151	C	T	17690151	2	4	128	1	0	0	0	0	0	0	0	1	11380	535	19	1		1	PADI4	1	17690151	Silent	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	1315718	17690151	231560470	4	75681											
ARID1A	8289	broad.mit.edu	37	chr1	27100330	27100342	+	Frame_Shift_Del	DEL	ACCCCTTCTGGCA	ACCCCTTCTGGCA	-													atcagttctccacccaaggcAccccttctggcagccccttc							TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:27100329_27100341CACCCCTTCTGGCA>C	uc001bmv.1	+	16	4414_4426	c.4041_4053CACCCCTTCTGGCA>C	c.(4039-4053)ggcaccccttctggcfs	p.G1347fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.G1346fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1347fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.G964fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G193fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1347	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCACCCAAGGCACCCCTTCTGGCAGCCCCTTCC	0.535			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27100342	ACCCCTTCTGGCA	-	27100330	7	5	128	1	0	1	0	1	0	0	0	0	913	159	6	0	4108	0	ARID1A	1	27100330	Frame_Shift_Del	DEL	ACCCCTTCTGGCA	TCGA-BR-A4PE-01A-31D-A25D-08	9410179	27100330	222150291	5	75682											
DCDC2B	149069	broad.mit.edu	37	chr1	32680443	32680443	+	Frame_Shift_Del	DEL	C	C	-													cccagccctctccaaaggaaCcagaccgaattaagccatct							TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:32680443delC	uc001bun.2	+	7	760	c.760delC	c.(760-762)CCAfs	p.P254fs	C1orf91_uc001buo.3_RNA|C1orf91_uc001bup.3_RNA	NM_001099434	NP_001092904	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	254					intracellular signal transduction						0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TCCAAAGGAACCAGACCGAAT	0.562													-	32680443	C	-	32680443	7	5	128	1	0	1	0	1	0	0	0	0	4286	507	18	0	786	0	DCDC2B	1	32680443	Frame_Shift_Del	DEL	C	TCGA-BR-A4PE-01A-31D-A25D-08	5580113	32680443	216570178	6	75683											
HMGB4	127540	broad.mit.edu	37	chr1	34329993	34329993	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagccctggccaaactcgaCaaagcccgataccaggaaga	10	13	0	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:34329993C>A	uc001bxp.2	+	2	1944	c.201C>A	c.(199-201)GAC>GAA	p.D67E	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.2_5'UTR	NM_145205	NP_660206	Q8WW32	HMGB4_HUMAN	HMG2 like isoform 1	67						nucleus	DNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCAAACTCGACAAAGCCCGAT	0.468													A	34329993	C	A	34329993	3	1	128	1	0	0	0	0	1	0	0	0	7228	477	17	5	203	5	HMGB4	1	34329993	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	1649550	34329993	214920628	7	75684											
C1orf216	127703	broad.mit.edu	37	chr1	36181267	36181267	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggggcctggatggtgctgccCtctgctggagacagcgaata	16	10	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:36181267C>G	uc001bzh.1	-	2	1144	c.656G>C	c.(655-657)AGG>ACG	p.R219T		NM_152374	NP_689587	Q8TAB5	CA216_HUMAN	hypothetical protein LOC127703	219										skin(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TGGTGCTGCCCTCTGCTGGAG	0.567											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	36181267	C	G	36181267	3	3	128	1	0	0	0	0	1	0	0	0	2031	681	24	5	37	5	C1orf216	1	36181267	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	1851274	36181267	213069354	8	75685											
MTF1	4520	broad.mit.edu	37	chr1	38288031	38288031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagctgatgccactgccGctgctgatgcagaagcccca	10	16	0	3			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:38288031G>A	uc001cce.1	-	9	1670	c.1529C>T	c.(1528-1530)GCG>GTG	p.A510V	MTF1_uc009vvj.1_Missense_Mutation_p.A201V	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	510						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGCCACTGCCGCTGCTGATGC	0.587													A	38288031	G	A	38288031	3	1	128	1	0	0	0	0	1	0	0	0	9922	1087	38	1	744	1	MTF1	1	38288031	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	2106764	38288031	210962590	9	75686											
POMGNT1	55624	broad.mit.edu	37	chr1	46662468	46662468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctctacgtccaggacccGccggggaccactgcctctgc	10	19	2	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:46662468G>A	uc001cpe.2	-	4	453	c.289C>T	c.(289-291)CGG>TGG	p.R97W	POMGNT1_uc010olx.1_Missense_Mutation_p.R75W|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_5'UTR|POMGNT1_uc001cpg.2_Missense_Mutation_p.R97W|POMGNT1_uc001cpf.2_5'UTR|POMGNT1_uc001cpj.2_Missense_Mutation_p.R97W	NM_017739	NP_060209	Q8WZA1	PMGT1_HUMAN	O-linked mannose	97	Lumenal (Potential).				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					TCCAGGACCCGCCGGGGACCA	0.602													A	46662468	G	A	46662468	3	1	128	1	0	0	0	0	1	0	0	0	12243	1086	38	1	1769	1	POMGNT1	1	46662468	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	8374437	46662468	202588153	10	75687											
LRP8	7804	broad.mit.edu	37	chr1	53724104	53724104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggcacaggtattcacagCctccattaggctggacactc	10	12	1	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:53724104C>T	uc001cvi.1	-	14	2238	c.2096G>A	c.(2095-2097)GGC>GAC	p.G699D	LRP8_uc001cvh.1_Missense_Mutation_p.G252D|LRP8_uc001cvk.1_Missense_Mutation_p.G529D|LRP8_uc001cvj.1_Missense_Mutation_p.G699D|LRP8_uc001cvl.1_Missense_Mutation_p.G570D|LRP8_uc001cvm.1_Missense_Mutation_p.G284D	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	699	Extracellular (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0						GTATTCACAGCCTCCATTAGG	0.567													T	53724104	C	T	53724104	3	4	128	1	0	0	0	0	1	0	0	0	8963	739	26	2	819	2	LRP8	1	53724104	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	7061636	53724104	195526517	11	75688											
PRMT6	55170	broad.mit.edu	37	chr1	107599750	107599750	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccgggtgcacgtcctgccggGaccagtggagactgtagagt	16	11	0	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:107599750G>T	uc010ous.1	+	1	484	c.413G>T	c.(412-414)GGA>GTA	p.G138V		NM_018137	NP_060607	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	138					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity				0		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GTCCTGCCGGGACCAGTGGAG	0.667													T	107599750	G	T	107599750	3	4	128	1	0	0	0	0	1	0	0	0	12540	1174	41	5	415	5	PRMT6	1	107599750	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	53875646	107599750	141650871	12	75689											
OVGP1	5016	broad.mit.edu	37	chr1	111957788	111957788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacagttgtacctctaggGgttatagtcatattttcaca	8	8	4	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:111957788G>A	uc001eba.2	-	11	1391	c.1335C>T	c.(1333-1335)ACC>ACT	p.T445T	OVGP1_uc001eaz.2_Silent_p.T407T|OVGP1_uc010owb.1_Silent_p.T93T	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1 precursor	445					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			ovary(4)|large_intestine(1)	5		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TACCTCTAGGGGTTATAGTCA	0.498													A	111957788	G	A	111957788	2	1	128	1	0	0	0	0	0	0	0	1	11325	1219	43	4		4	OVGP1	1	111957788	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	4358038	111957788	137292833	13	75690											
TCHHL1	126637	broad.mit.edu	37	chr1	152057468	152057468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttgtggtgcttgcctccCtttgtagtaccagcctctct	9	13	1	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:152057468C>T	uc001ezo.1	-	3	2755	c.2690G>A	c.(2689-2691)AGG>AAG	p.R897K		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	897							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GCTTGCCTCCCTTTGTAGTAC	0.498													T	152057468	C	T	152057468	3	4	128	1	0	0	0	0	1	0	0	0	15698	681	24	4	28	4	TCHHL1	1	152057468	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	40099680	152057468	97193153	14	75691											
FLG	2312	broad.mit.edu	37	chr1	152279060	152279060	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggagctgtcttgtgcctgctCatggcgggatccttgtcttc	13	11	3	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:152279060C>G	uc001ezu.1	-	3	8338	c.8302G>C	c.(8302-8304)GAG>CAG	p.E2768Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2768	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGCCTGCTCATGGCGGGAT	0.582									Ichthyosis				G	152279060	C	G	152279060	3	3	128	1	0	0	0	0	1	0	0	0	5922	835	29	5	3887	5	FLG	1	152279060	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	221592	152279060	96971561	15	75692											
FLG2	388698	broad.mit.edu	37	chr1	152323407	152323407	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatgaactgtggatcctggCtgtctttgttgagatccagc	11	10	1	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:152323407C>A	uc001ezw.3	-	3	6928	c.6855G>T	c.(6853-6855)CAG>CAT	p.Q2285H	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	2285							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGATCCTGGCTGTCTTTGTT	0.507													A	152323407	C	A	152323407	3	1	128	1	0	0	0	0	1	0	0	0	5923	796	28	5	324	5	FLG2	1	152323407	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	44347	152323407	96927214	16	75693											
KPRP	448834	broad.mit.edu	37	chr1	152733756	152733756	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatggccatggagaccaaggCaatgcctttgctggagtgaa	14	8	0	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:152733756C>A	uc001fal.1	+	2	1750	c.1692C>A	c.(1690-1692)GGC>GGA	p.G564G		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	564						cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGACCAAGGCAATGCCTTTG	0.522													A	152733756	C	A	152733756	2	1	128	1	0	0	0	0	0	0	0	1	8436	697	25	5		5	KPRP	1	152733756	Silent	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	410349	152733756	96516865	17	75694											
LMNA	4000	broad.mit.edu	37	chr1	156106821	156106821	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgggcaggtggtgacggTgagtggcagggcgcttggga	23	6	0	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:156106821T>G	uc001fni.2	+	8	1737	c.1488_splice	c.e8+2	p.T496_splice	LMNA_uc001fnf.1_Splice_Site_p.T496_splice|LMNA_uc001fng.2_Splice_Site_p.T496_splice|LMNA_uc001fnh.2_Splice_Site_p.T496_splice|LMNA_uc009wro.1_Splice_Site_p.T496_splice|LMNA_uc010pgz.1_Splice_Site_p.T384_splice|LMNA_uc001fnj.2_Splice_Site_p.T415_splice|LMNA_uc001fnk.2_Splice_Site_p.T397_splice|LMNA_uc009wrp.2_3'UTR|LMNA_uc010pha.1_Splice_Site_p.T152_splice|LMNA_uc010phb.1_5'Flank	NM_170707	NP_733821	P02545	LMNA_HUMAN	lamin A/C isoform 1 precursor						cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity|structural molecule activity			ovary(2)	2	Hepatocellular(266;0.158)					GTGGTGACGGTGAGTGGCAGG	0.597									Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome				G	156106821	T	G	156106821	5	3	128	1	0	0	0	0	0	0	1	0	8848	1710	59	5	1520	5	LMNA	1	156106821	Splice_Site	SNP	T	TCGA-BR-A4PE-01A-31D-A25D-08	3373065	156106821	93143800	18	75695											
OR10Z1	128368	broad.mit.edu	37	chr1	158576487	158576488	+	Frame_Shift_Ins	INS	-	-	G													aatgctctctggcctggctgINSggggggaccaggctatctcc							TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:158576486_158576487T>TG	uc010pio.2	+	0	258_259	c.258_259T>TG	c.(256-261)gctgggfs	p.A86fs		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGGCCTGGCTGGGGGGGACCA	0.554													G	158576488	-	G	158576487	7	5	128	1	0	1	1	0	0	0	0	0	10923	1348	47	0	261	0	OR10Z1	1	158576487	Frame_Shift_Ins	INS	-	TCGA-BR-A4PE-01A-31D-A25D-08	2469666	158576487	90674134	19	75696											
OR10J3	441911	broad.mit.edu	37	chr1	159284097	159284097	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catagcggtcatatcccatgActgtgagcaggaagcagttg	12	9	1	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:159284097A>G	uc010piu.1	-	1	353	c.353T>C	c.(352-354)GTC>GCC	p.V118A		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	118	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)					ATATCCCATGACTGTGAGCAG	0.522													G	159284097	A	G	159284097	3	3	128	1	0	0	0	0	1	0	0	0	10911	275	10	3	638	3	OR10J3	1	159284097	Missense_Mutation	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08	707610	159284097	89966524	20	75697											
MAEL	84944	broad.mit.edu	37	chr1	166985522	166985522	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtttgcaagaagattgcGtaagttggggaaaggagttt	15	3	0	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:166985522G>A	uc001gdy.1	+	9	979	c.908_splice	c.e9+1	p.A303_splice	MAEL_uc001gdz.1_Splice_Site_p.A272_splice|MAEL_uc009wvf.1_Splice_Site	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	maelstrom homolog						cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			skin(1)	1						AGAAGATTGCGTAAGTTGGGG	0.368													A	166985522	G	A	166985522	5	1	128	1	0	0	0	0	0	0	1	0	9154	1159	40	1	943	1	MAEL	1	166985522	Splice_Site	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	7701425	166985522	82265099	21	75698											
C1orf9	51430	broad.mit.edu	37	chr1	172579318	172579318	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actaagtcgggatcattgccGagcctgcatgacataatcaa	9	10	2	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:172579318G>A	uc001giq.3	+	24	4000	c.3684G>A	c.(3682-3684)CCG>CCA	p.P1228P	C1orf9_uc009wwd.2_Silent_p.P1184P|C1orf9_uc010pmn.1_Silent_p.P857P|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	1228					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		GATCATTGCCGAGCCTGCATG	0.383													A	172579318	G	A	172579318	2	1	128	1	0	0	0	0	0	0	0	1	2067	1045	37	1		1	C1orf9	1	172579318	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	5593796	172579318	76671303	22	75699											
ASTN1	460	broad.mit.edu	37	chr1	176915143	176915143	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaacatctccccaaagaggGtctggttcatgggaagctcc	11	11	3	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:176915143G>T	uc001glc.2	-	13	2380	c.2168C>A	c.(2167-2169)ACC>AAC	p.T723N	ASTN1_uc001glb.1_Missense_Mutation_p.T723N|ASTN1_uc001gld.1_Missense_Mutation_p.T723N|ASTN1_uc009wwx.1_Missense_Mutation_p.T723N	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	731					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						CCCAAAGAGGGTCTGGTTCAT	0.507													T	176915143	G	T	176915143	3	4	128	1	0	0	0	0	1	0	0	0	1064	1261	44	5	1764	5	ASTN1	1	176915143	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	4335825	176915143	72335478	23	75700											
HMCN1	83872	broad.mit.edu	37	chr1	186101509	186101509	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agctaccaatgaagctggggTggtggagcgcagcatgagtc	16	8	0	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:186101509T>A	uc001grq.1	+	86	13509	c.13280T>A	c.(13279-13281)GTG>GAG	p.V4427E	HMCN1_uc001grs.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4427	Ig-like C2-type 43.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GAAGCTGGGGTGGTGGAGCGC	0.388													A	186101509	T	A	186101509	3	1	128	1	0	0	0	0	1	0	0	0	7220	1696	59	5	13622	5	HMCN1	1	186101509	Missense_Mutation	SNP	T	TCGA-BR-A4PE-01A-31D-A25D-08	9186366	186101509	63149112	24	75701											
TMCC2	9911	broad.mit.edu	37	chr1	205211050	205211050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacagcagcctggccGccatcctgcaccagcaccag	10	19	0	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:205211050G>A	uc001hbz.1	+	3	1069	c.625G>A	c.(625-627)GCC>ACC	p.A209T	TMCC2_uc010prf.1_Missense_Mutation_p.A131T	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	209						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAGCCTGGCCGCCATCCTGCA	0.577													A	205211050	G	A	205211050	3	1	128	1	0	0	0	0	1	0	0	0	15990	1087	38	1	631	1	TMCC2	1	205211050	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	19109541	205211050	44039571	25	75702											
GNPAT	8443	broad.mit.edu	37	chr1	231401890	231401890	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgagcttctaggggttccTaaaccaaaagagtctacaac	8	9	2	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:231401890T>G	uc001hup.3	+	7	1109	c.903T>G	c.(901-903)CCT>CCG	p.P301P	GNPAT_uc009xfo.1_Silent_p.P192P|GNPAT_uc009xfp.2_Silent_p.P240P	NM_014236	NP_055051	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	301					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			ovary(3)|breast(1)	4	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TAGGGGTTCCTAAACCAAAAG	0.343													G	231401890	T	G	231401890	2	3	128	1	0	0	0	0	0	0	0	1	6541	1509	53	5		5	GNPAT	1	231401890	Silent	SNP	T	TCGA-BR-A4PE-01A-31D-A25D-08	26190840	231401890	17848731	26	75703											
OR2G2	81470	broad.mit.edu	37	chr1	247752051	247752051	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccgctatgtggctgtctgCcgtcctctccattacactgt	9	14	2	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:247752051C>A	uc010pyy.1	+	1	390	c.390C>A	c.(388-390)TGC>TGA	p.C130*		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGCTGTCTGCCGTCCTCTCC	0.542													A	247752051	C	A	247752051	4	1	128	1	0	0	0	0	0	1	0	0	10998	747	26	5	392	5	OR2G2	1	247752051	Nonsense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	16350161	247752051	1498570	27	75704											
C2orf71	388939	broad.mit.edu	37	chr2	29296154	29296154	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctctctagctgcctcAgagccctcaggaggcgttca	11	15	4	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:29296154A>T	uc002rmt.1	-	1	974	c.974T>A	c.(973-975)CTG>CAG	p.L325Q		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	325					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						TAGCTGCCTCAGAGCCCTCAG	0.577													T	29296154	A	T	29296154	3	4	128	1	0	0	0	0	1	0	0	0	2191	188	7	5	2900	5	C2orf71	2	29296154	Missense_Mutation	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08		29296154	213903219	28	75705											
SIX2	10736	broad.mit.edu	37	chr2	45235916	45235916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcagcgggaatttgcggcGcacgcggtatttgcccacgg	16	12	0	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:45235916G>A	uc002ruo.2	-	1	627	c.334C>T	c.(334-336)CGC>TGC	p.R112C	SIX2_uc002rup.2_Missense_Mutation_p.R112C	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	112						nucleus	sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATTTGCGGCGCACGCGGTAT	0.657													A	45235916	G	A	45235916	3	1	128	1	0	0	0	0	1	0	0	0	14347	1087	38	1	549	1	SIX2	2	45235916	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	15939762	45235916	197963457	29	75706											
TSPYL6	388951	broad.mit.edu	37	chr2	54483006	54483006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgcttctaggccctccgCgggtggtggagtcacttcct	14	14	2	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:54483006C>T	uc002rxr.2	-	1	404	c.283G>A	c.(283-285)GCG>ACG	p.A95T	ACYP2_uc002rxq.3_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	TSPY-like 6	95					nucleosome assembly	nucleus					0						AGGCCCTCCGCGGGTGGTGGA	0.617													T	54483006	C	T	54483006	3	4	128	1	0	0	0	0	1	0	0	0	16660	768	27	1	953	1	TSPYL6	2	54483006	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	9247090	54483006	188716367	30	75707											
FAM176A	84141	broad.mit.edu	37	chr2	75720569	75720569	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcctcactgccatcctcGctgtcgctgctgtcgctgct	10	16	1	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:75720569G>A	uc002sni.2	-	4	730	c.252C>T	c.(250-252)AGC>AGT	p.S84S	FAM176A_uc002snj.1_Silent_p.S71S|FAM176A_uc002snk.1_Silent_p.S84S	NM_001135032	NP_001128504	Q9H8M9	F176A_HUMAN	family with sequence similarity 176, member A	84					apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane					0						TGCCATCCTCGCTGTCGCTGC	0.597													A	75720569	G	A	75720569	2	1	128	1	0	0	0	0	0	0	0	1	5499	1078	38	1		1	FAM176A	2	75720569	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	21237563	75720569	167478804	31	75708											
ATOH8	84913	broad.mit.edu	37	chr2	85981597	85981598	+	Missense_Mutation	DNP	GC	GC	AA													ggcacggacacagccggggaGcgcgggggctctcgggcgcc							TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:85981597_85981598GC>AA	uc002sqn.2	+	1	689_690	c.285_286GC>AA	c.(283-288)GAGCGC>GAAAGC	p.R96S	ATOH8_uc002sqm.3_Missense_Mutation_p.R96S	NM_032827	NP_116216	Q96SQ7	ATOH8_HUMAN	atonal homolog 8	96	Pro-rich.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						CAGCCGGGGAGCGCGGGGGCTC	0.772													AA	85981598	GC	AA	85981597	3	1	128	1	0	0	0	0	1	0	0	0	1114	962	34	2	287	2	ATOH8	2	85981597	Missense_Mutation	DNP	GC	TCGA-BR-A4PE-01A-31D-A25D-08	10261028	85981597	157217776	32	75709											
SLC5A7	60482	broad.mit.edu	37	chr2	108618467	108618467	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgactcatctgaagtcTactcttggcttgatagtttt	8	8	4	3			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:108618467T>C	uc002tdv.2	+	6	988	c.712T>C	c.(712-714)TAC>CAC	p.Y238H	SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.Y238H|SLC5A7_uc010ywn.1_Missense_Mutation_p.Y125H	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	238	Helical; (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4					Choline(DB00122)	ATCTGAAGTCTACTCTTGGCT	0.413													C	108618467	T	C	108618467	3	2	128	1	0	0	0	0	1	0	0	0	14670	1522	53	3	730	3	SLC5A7	2	108618467	Missense_Mutation	SNP	T	TCGA-BR-A4PE-01A-31D-A25D-08	22636870	108618467	134580906	33	75710											
CNTNAP5	129684	broad.mit.edu	37	chr2	125530594	125530594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaacagccagttgtttgtaGgtaggggacatcttaaggct	13	6	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:125530594G>T	uc002tno.2	+	17	3113	c.2749G>T	c.(2749-2751)GGG>TGG	p.G917W	CNTNAP5_uc010flu.2_Missense_Mutation_p.G918W	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	917	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTTGTTTGTAGGTAGGGGACA	0.502													T	125530594	G	T	125530594	3	4	128	1	0	0	0	0	1	0	0	0	3650	1014	35	5	2815	5	CNTNAP5	2	125530594	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	16912127	125530594	117668779	34	75711											
R3HDM1	23518	broad.mit.edu	37	chr2	136396502	136396502	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagggagatctacaaatagCcatcaaagcagcactgagaa	9	9	3	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:136396502C>T	uc002tuo.2	+	14	1399	c.1029C>T	c.(1027-1029)AGC>AGT	p.S343S	R3HDM1_uc010fni.2_Silent_p.S341S|R3HDM1_uc002tup.2_Silent_p.S287S|R3HDM1_uc010zbh.1_Silent_p.S175S	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	343							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		CTACAAATAGCCATCAAAGCA	0.398													T	136396502	C	T	136396502	2	4	128	1	0	0	0	0	0	0	0	1	12887	738	26	2		2	R3HDM1	2	136396502	Silent	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	10865908	136396502	106802871	35	75712											
THSD7B	80731	broad.mit.edu	37	chr2	137814207	137814207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgtgcttgttccttaCgctcgcggtgaagtcaagcc	11	12	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:137814207C>T	uc002tva.1	+	2	264	c.264C>T	c.(262-264)TAC>TAT	p.Y88Y	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Translation_Start_Site	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTGTTCCTTACGCTCGCGGTG	0.552													T	137814207	C	T	137814207	2	4	128	1	0	0	0	0	0	0	0	1	15877	547	19	1		1	THSD7B	2	137814207	Silent	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	1417705	137814207	105385166	36	75713											
LRP1B	53353	broad.mit.edu	37	chr2	141004684	141004684	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgatcagacttgctgctcTttggggctggcctttcacac	10	11	3	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:141004684T>C	uc002tvj.1	-	87	14267	c.13295A>G	c.(13294-13296)AAG>AGG	p.K4432R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4432	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTGCTGCTCTTTGGGGCTGG	0.383										TSP Lung(27;0.18)			C	141004684	T	C	141004684	3	2	128	1	0	0	0	0	1	0	0	0	8955	1609	56	3	524	3	LRP1B	2	141004684	Missense_Mutation	SNP	T	TCGA-BR-A4PE-01A-31D-A25D-08	3190477	141004684	102194689	37	75714											
SCN3A	6328	broad.mit.edu	37	chr2	166021016	166021016	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtgactcaaaggtatagattCcagtgaatgtgtacctagga	11	6	1	3			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:166021016C>A	uc002ucx.2	-	6	980	c.488G>T	c.(487-489)GGA>GTA	p.G163V	SCN3A_uc002ucy.2_Missense_Mutation_p.G163V|SCN3A_uc002ucz.2_Missense_Mutation_p.G163V|SCN3A_uc002uda.1_Missense_Mutation_p.G32V|SCN3A_uc002udb.1_Missense_Mutation_p.G32V	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	163	Helical; Name=S2 of repeat I; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	GGTATAGATTCCAGTGAATGT	0.338													A	166021016	C	A	166021016	3	1	128	1	0	0	0	0	1	0	0	0	13918	855	30	5	5702	5	SCN3A	2	166021016	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	25016332	166021016	77178357	38	75715											
SCN2A	6326	broad.mit.edu	37	chr2	166229777	166229777	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaatgccttgggttactcaGaacttggtgccatcaaatcc	8	11	2	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:166229777G>T	uc002udc.2	+	21	4182	c.3892G>T	c.(3892-3894)GAA>TAA	p.E1298*	SCN2A_uc002udd.2_Nonsense_Mutation_p.E1298*|SCN2A_uc002ude.2_Nonsense_Mutation_p.E1298*	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1298	III.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	GGGTTACTCAGAACTTGGTGC	0.413													T	166229777	G	T	166229777	4	4	128	1	0	0	0	0	0	1	0	0	13916	943	33	5	4066	5	SCN2A	2	166229777	Nonsense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	208761	166229777	76969596	39	75716											
XIRP2	129446	broad.mit.edu	37	chr2	168101416	168101416	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	catgttttctttttgagacaGaaaatttggacagcatacaa	7	6	1	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:168101416G>C	uc002udx.2	+	8	3532	c.3514G>C	c.(3514-3516)GAA>CAA	p.E1172Q	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E997Q|XIRP2_uc010fpq.2_Missense_Mutation_p.E950Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	997	Xin 18.				actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TTTTGAGACAGAAAATTTGGA	0.388													C	168101416	G	C	168101416	3	2	128	1	0	0	0	0	1	0	0	0	17427	943	33	5	3544	5	XIRP2	2	168101416	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	1871639	168101416	75097957	40	75717											
DLX2	1746	broad.mit.edu	37	chr2	172965545	172965545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaaagtcccaggaggccGgcgctgagactggcggcgaa	15	13	0	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:172965545G>A	uc002uhn.2	-	3	925	c.713C>T	c.(712-714)CCG>CTG	p.P238L		NM_004405	NP_004396	Q07687	DLX2_HUMAN	distal-less homeobox 2	238						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CCAGGAGGCCGGCGCTGAGAC	0.692													A	172965545	G	A	172965545	3	1	128	1	0	0	0	0	1	0	0	0	4571	1116	39	1	277	1	DLX2	2	172965545	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	4864129	172965545	70233828	41	75718											
HOXD12	3238	broad.mit.edu	37	chr2	176965305	176965305	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaagcggaaaccctacacGaagcagcagattgcggagtt	12	9	0	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:176965305G>A	uc010zev.1	+	2	630	c.630G>A	c.(628-630)ACG>ACA	p.T210T	HOXD12_uc010zew.1_Missense_Mutation_p.E220K	NM_021193	NP_067016	P35452	HXD12_HUMAN	homeobox D12	210	Homeobox.					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		AACCCTACACGAAGCAGCAGA	0.597													A	176965305	G	A	176965305	2	1	128	1	0	0	0	0	0	0	0	1	7321	1045	37	1		1	HOXD12	2	176965305	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	3999760	176965305	66234068	42	75719											
TTN	7273	broad.mit.edu	37	chr2	179445168	179445168	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcaagaaagtgtcaaagtcaGttgactttatgtccagtcca	9	8	2	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:179445168G>C	uc010zfg.1	-	266	59458	c.59234C>G	c.(59233-59235)ACT>AGT	p.T19745S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T13440S|TTN_uc010zfi.1_Missense_Mutation_p.T13373S|TTN_uc010zfj.1_Missense_Mutation_p.T13248S|uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20672							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCAAAGTCAGTTGACTTTAT	0.388													C	179445168	G	C	179445168	3	2	128	1	0	0	0	0	1	0	0	0	16732	1029	36	5	41225	5	TTN	2	179445168	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	2479863	179445168	63754205	43	75720											
TTN	7273	broad.mit.edu	37	chr2	179499302	179499302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacattcgaatcgagcctgtCgcctttctggaacagtgaca	9	12	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:179499302C>T	uc010zfg.1	-	179	34726	c.34502G>A	c.(34501-34503)CGA>CAA	p.R11501Q	TTN_uc010zfh.1_Missense_Mutation_p.R5196Q|TTN_uc010zfi.1_Missense_Mutation_p.R5129Q|TTN_uc010zfj.1_Missense_Mutation_p.R5004Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12428							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCGAGCCTGTCGCCTTTCTGG	0.428													T	179499302	C	T	179499302	3	4	128	1	0	0	0	0	1	0	0	0	16732	884	31	1	66019	1	TTN	2	179499302	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	54134	179499302	63700071	44	75721											
TTN	7273	broad.mit.edu	37	chr2	179616598	179616598	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaacatatttaaatgtaAgtttctgggtaaaagaaggc	8	4	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:179616598A>C	uc002unb.2	-	46	10753	c.10529T>G	c.(10528-10530)CTT>CGT	p.L3510R	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAAATGTAAGTTTCTGGGT	0.378													C	179616598	A	C	179616598	3	2	128	1	0	0	0	0	1	0	0	0	16732	72	3	5	99768	5	TTN	2	179616598	Missense_Mutation	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08	117296	179616598	63582775	45	75722											
TNS1	7145	broad.mit.edu	37	chr2	218712303	218712303	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagtccgggaggggtctgaAgtcgcttcctttggtgagag	18	7	1	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:218712303A>C	uc002vgt.2	-	17	2960	c.2562T>G	c.(2560-2562)ACT>ACG	p.T854T	TNS1_uc002vgr.2_Silent_p.T854T|TNS1_uc002vgs.2_Silent_p.T854T|TNS1_uc010zjv.1_Silent_p.T854T|TNS1_uc010fvj.1_Silent_p.T922T|TNS1_uc010fvk.1_Silent_p.T979T|TNS1_uc010fvi.1_Silent_p.T541T	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	854						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGGGGTCTGAAGTCGCTTCCT	0.597													C	218712303	A	C	218712303	2	2	128	1	0	0	0	0	0	0	0	1	16340	59	3	5		5	TNS1	2	218712303	Silent	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08	39095705	218712303	24487070	46	75723											
PLCD4	84812	broad.mit.edu	37	chr2	219501217	219501217	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accgccacattcacctgctgTccaaagatggcatcagcctc	7	16	2	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:219501217T>G	uc002vij.1	+	16	2401	c.2206T>G	c.(2206-2208)TCC>GCC	p.S736A		NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	736					intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)	3		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCACCTGCTGTCCAAAGATGG	0.592													G	219501217	T	G	219501217	3	3	128	1	0	0	0	0	1	0	0	0	12033	1667	58	5	2264	5	PLCD4	2	219501217	Missense_Mutation	SNP	T	TCGA-BR-A4PE-01A-31D-A25D-08	788914	219501217	23698156	47	75724											
CCDC108	255101	broad.mit.edu	37	chr2	219892515	219892515	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggggcagtcagaccttcGcgtccagaccaccatgatct	11	13	2	3			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:219892515G>A	uc002vjl.1	-	13	2152	c.2068C>T	c.(2068-2070)CGA>TGA	p.R690*	CCDC108_uc010fwa.1_Nonsense_Mutation_p.R133*|CCDC108_uc010zkp.1_Nonsense_Mutation_p.R679*|CCDC108_uc010zkq.1_Nonsense_Mutation_p.R625*	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	690						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAGACCTTCGCGTCCAGACC	0.637													A	219892515	G	A	219892515	4	1	128	1	0	0	0	0	0	1	0	0	2743	1095	38	1	3801	1	CCDC108	2	219892515	Nonsense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	391298	219892515	23306858	48	75725											
OBSL1	23363	broad.mit.edu	37	chr2	220431630	220431630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgctgtcctggtgcttgaCggcatgcaggatgagtctgt	14	10	1	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:220431630C>T	uc010fwk.2	-	5	2113	c.2056G>A	c.(2056-2058)GTC>ATC	p.V686I	OBSL1_uc010fwl.1_Missense_Mutation_p.V161I|OBSL1_uc002vmi.2_Missense_Mutation_p.V686I|OBSL1_uc002vmj.2_Missense_Mutation_p.V273I	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	686					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGGTGCTTGACGGCATGCAGG	0.632													T	220431630	C	T	220431630	3	4	128	1	0	0	0	0	1	0	0	0	10813	536	19	1	3854	1	OBSL1	2	220431630	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	539115	220431630	22767743	49	75726											
RHBDD1	84236	broad.mit.edu	37	chr2	227773563	227773563	+	Frame_Shift_Del	DEL	C	C	-													ttttcctccagtgttggttaCccaggacggcaatactactt							TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:227773563delC	uc002voi.2	+	5	802	c.681delC	c.(679-681)TACfs	p.Y227fs	RHBDD1_uc010fxc.2_Frame_Shift_Del_p.Y227fs|RHBDD1_uc002voj.2_Frame_Shift_Del_p.Y58fs	NM_032276	NP_115652	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	227						integral to membrane	serine-type endopeptidase activity			ovary(1)	1		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		GTGTTGGTTACCCAGGACGGC	0.313													-	227773563	C	-	227773563	7	5	128	1	0	1	0	1	0	0	0	0	13316	518	18	0	695	0	RHBDD1	2	227773563	Frame_Shift_Del	DEL	C	TCGA-BR-A4PE-01A-31D-A25D-08	7341933	227773563	15425810	50	75727											
NCL	4691	broad.mit.edu	37	chr2	232326259	232326264	+	In_Frame_Del	DEL	TCATCG	TCATCG	-													acaactccttaccatcttccTcatcgtcatcgtcatcctca					rs144748001	byFrequency	TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:232326258_232326263CTCATCG>C	uc002vru.3	-	2	742_747	c.601_606CGATGAG>G	c.(601-606)gatgag>G	p.DE201del	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	201	Asp/Glu-rich (acidic).				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TACcatcttcctcatcgtcatcgtca	0.476													-	232326264	TCATCG	-	232326259	7	5	128	1	0	1	0	1	0	0	0	0	10226	1551	54	0	1575	0	NCL	2	232326259	In_Frame_Del	DEL	TCATCG	TCGA-BR-A4PE-01A-31D-A25D-08	4552696	232326259	10873114	51	75728											
CHRNG	1146	broad.mit.edu	37	chr2	233407734	233407734	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctacgtcatcaacatcatCgccccctgtgtgctcatctc	5	16	6	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:233407734C>T	uc002vsx.1	+	7	768	c.747C>T	c.(745-747)ATC>ATT	p.I249I	CHRNG_uc010fye.1_Silent_p.I197I	NM_005199	NP_005190	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma	249	Helical; (Potential).				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		TCAACATCATCGCCCCCTGTG	0.602													T	233407734	C	T	233407734	2	4	128	1	0	0	0	0	0	0	0	1	3396	874	31	1		1	CHRNG	2	233407734	Silent	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	1081475	233407734	9791639	52	75729											
DNAJB3	414061	broad.mit.edu	37	chr2	234652296	234652296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcgcggaagctgaagacGtactcgaaggggtcctcgaa	16	9	0	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:234652296G>A	uc002vuz.2	-	1	366	c.267C>T	c.(265-267)TAC>TAT	p.Y89Y	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 3	89					protein folding		heat shock protein binding|unfolded protein binding				0						AGCTGAAGACGTACTCGAAGG	0.617													A	234652296	G	A	234652296	2	1	128	1	0	0	0	0	0	0	0	1	4621	1140	40	1		1	DNAJB3	2	234652296	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	1244562	234652296	8547077	53	75730											
HJURP	55355	broad.mit.edu	37	chr2	234750289	234750289	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagaatacttcgagggtgtCactttgcgctccttccaact	9	11	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:234750289C>T	uc002vvg.2	-	8	1203	c.1137G>A	c.(1135-1137)GTG>GTA	p.V379V	HJURP_uc010znd.1_Silent_p.V318V|HJURP_uc010zne.1_Silent_p.V287V	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	379					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TCGAGGGTGTCACTTTGCGCT	0.368													T	234750289	C	T	234750289	2	4	128	1	0	0	0	0	0	0	0	1	7189	813	29	4		4	HJURP	2	234750289	Silent	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	97993	234750289	8449084	54	75731											
BRPF1	7862	broad.mit.edu	37	chr3	9780998	9780998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtgcaccaggagtgctaCggtgtcccctatatccctga	11	14	0	1	rs146224207		TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:9780998C>T	uc003bse.2	+	3	1314	c.915C>T	c.(913-915)TAC>TAT	p.Y305Y	BRPF1_uc003bsf.2_Silent_p.Y305Y|BRPF1_uc003bsg.2_Silent_p.Y305Y|BRPF1_uc011ati.1_Silent_p.Y305Y	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	305	PHD-type.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					AGGAGTGCTACGGTGTCCCCT	0.582													T	9780998	C	T	9780998	2	4	128	1	0	0	0	0	0	0	0	1	1520	547	19	1		1	BRPF1	3	9780998	Silent	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08		9780998	188241432	55	75732											
OGG1	4968	broad.mit.edu	37	chr3	9796425	9796425	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catctcaggaagctgggcctGggctatcgtgcccgttacgt	13	12	1	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:9796425G>C	uc003bsi.2	+	4	946	c.603G>C	c.(601-603)CTG>CTC	p.L201L	OGG1_uc003bsh.2_Silent_p.L201L|OGG1_uc003bsj.2_Silent_p.L201L|OGG1_uc003bsk.2_Silent_p.L201L|OGG1_uc003bsl.2_Silent_p.L201L|OGG1_uc003bsm.2_Silent_p.L201L|OGG1_uc003bsn.2_Silent_p.L201L|OGG1_uc003bso.2_Intron|OGG1_uc003bsp.1_Intron|OGG1_uc010hcm.1_Silent_p.L44L|OGG1_uc003bsq.1_Intron|OGG1_uc003bsr.1_Intron	NM_002542	NP_002533	O15527	OGG1_HUMAN	8-oxoguanine DNA-glycosylase 1 isoform 1a	201					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding				0	Medulloblastoma(99;0.227)					AGCTGGGCCTGGGCTATCGTG	0.607								BER_DNA_glycosylases					C	9796425	G	C	9796425	2	2	128	1	0	0	0	0	0	0	0	1	10845	1335	47	5		5	OGG1	3	9796425	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	15427	9796425	188226005	56	75733											
OXNAD1	92106	broad.mit.edu	37	chr3	16344253	16344253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaactcaagccatacatcaCgggtgagtcccctaaagata	9	11	2	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:16344253C>T	uc003caw.2	+	8	1239	c.782C>T	c.(781-783)ACG>ATG	p.T261M	OXNAD1_uc003cax.2_Missense_Mutation_p.T261M|OXNAD1_uc011awb.1_Missense_Mutation_p.T279M	NM_138381	NP_612390	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	261							oxidoreductase activity			skin(1)	1						CCATACATCACGGGTGAGTCC	0.408													T	16344253	C	T	16344253	3	4	128	1	0	0	0	0	1	0	0	0	11333	536	19	1	804	1	OXNAD1	3	16344253	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	6547828	16344253	181678177	57	75734											
ARPP21	10777	broad.mit.edu	37	chr3	35750490	35750490	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgcatccatttagagatgaCagacgaagtaaatcaattga	8	6	1	4			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:35750490C>A	uc003cgb.2	+	11	1089	c.825C>A	c.(823-825)GAC>GAA	p.D275E	ARPP21_uc003cga.2_Intron|ARPP21_uc011axy.1_Intron|ARPP21_uc003cgf.2_Intron	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	275						cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						TTAGAGATGACAGACGAAGTA	0.378													A	35750490	C	A	35750490	3	1	128	1	0	0	0	0	1	0	0	0	978	477	17	5	872	5	ARPP21	3	35750490	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	19406237	35750490	162271940	58	75735											
STAC	6769	broad.mit.edu	37	chr3	36524582	36524582	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccagcggtgcatgggcaagCtggtaagggcttgtgccagg	17	10	0	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:36524582C>A	uc003cgh.1	+	3	526	c.487C>A	c.(487-489)CTG>ATG	p.L163M	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Intron	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	163					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						CATGGGCAAGCTGGTAAGGGC	0.572													A	36524582	C	A	36524582	3	1	128	1	0	0	0	0	1	0	0	0	15238	796	28	5	497	5	STAC	3	36524582	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	774092	36524582	161497848	59	75736											
CSPG5	10675	broad.mit.edu	37	chr3	47610710	47610710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggagctcagatggggtccGgaatttgctggttaggagag	18	5	1	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:47610710G>A	uc003crp.3	-	4	1566	c.1390C>T	c.(1390-1392)CGG>TGG	p.R464W	CSPG5_uc003crn.2_Missense_Mutation_p.R326W|CSPG5_uc003cro.3_Missense_Mutation_p.R464W|CSPG5_uc011bbb.1_Missense_Mutation_p.R326W	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	464	Cytoplasmic (Potential).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GATGGGGTCCGGAATTTGCTG	0.453													A	47610710	G	A	47610710	3	1	128	1	0	0	0	0	1	0	0	0	3961	1115	39	1	237	1	CSPG5	3	47610710	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	11086128	47610710	150411720	60	75737											
IQCF2	389123	broad.mit.edu	37	chr3	51897243	51897243	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatgtggcgtgtccgctggCgatactgccaggtgctcaat	14	10	1	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:51897243C>T	uc003dbt.1	+	3	390	c.352C>T	c.(352-354)CGA>TGA	p.R118*	IQCF1_uc003dbq.3_Intron|IQCF2_uc003dbu.1_RNA	NM_203424	NP_982248	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	118	IQ 2.										0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGTCCGCTGGCGATACTGCCA	0.592													T	51897243	C	T	51897243	4	4	128	1	0	0	0	0	0	1	0	0	7808	760	27	1	362	1	IQCF2	3	51897243	Nonsense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	4286533	51897243	146125187	61	75738											
SNTN	132203	broad.mit.edu	37	chr3	63638415	63638415	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatctctccacttggaaggaGatcccaatccttctgcagcc	7	14	2	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:63638415G>A	uc003dlr.2	+	1	72	c.52G>A	c.(52-54)GAT>AAT	p.D18N		NM_001080537	NP_001074006	A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	18						cilium	calcium ion binding			ovary(1)	1						CTTGGAAGGAGATCCCAATCC	0.478													A	63638415	G	A	63638415	3	1	128	1	0	0	0	0	1	0	0	0	14876	942	33	4	54	4	SNTN	3	63638415	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	11741172	63638415	134384015	62	75739											
C3orf30	152405	broad.mit.edu	37	chr3	118865449	118865449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcaggtgtctggcctgaCggaggaaagaactgctgaac	15	8	2	3			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:118865449C>T	uc003ecb.1	+	1	453	c.413C>T	c.(412-414)ACG>ATG	p.T138M	IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.T138M	NM_152539	NP_689752	Q96M34	CC030_HUMAN	hypothetical protein LOC152405	138										ovary(2)	2				GBM - Glioblastoma multiforme(114;0.222)		TCTGGCCTGACGGAGGAAAGA	0.478													T	118865449	C	T	118865449	3	4	128	1	0	0	0	0	1	0	0	0	2220	536	19	1	415	1	C3orf30	3	118865449	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	55227034	118865449	79156981	63	75740											
ASTE1	28990	broad.mit.edu	37	chr3	130733117	130733117	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcatatgaccttgtggcattGaatagatattcataaagttg	9	5	1	3			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:130733117G>A	uc003env.1	-	6	2266	c.1824C>T	c.(1822-1824)TTC>TTT	p.F608F	ATP2C1_uc011blh.1_Intron|ATP2C1_uc011bli.1_Intron|ATP2C1_uc003enm.2_Intron|ATP2C1_uc003enn.2_Intron|ATP2C1_uc003enp.2_Intron|ATP2C1_uc003enr.2_Intron|ATP2C1_uc003ens.2_Intron|ATP2C1_uc003ent.2_Intron|ASTE1_uc010htm.1_Silent_p.F633F|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	608					DNA repair		nuclease activity				0						TTGTGGCATTGAATAGATATT	0.428													A	130733117	G	A	130733117	2	1	128	1	0	0	0	0	0	0	0	1	1062	1281	45	4		4	ASTE1	3	130733117	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	11867668	130733117	67289313	64	75741											
EPHB1	2047	broad.mit.edu	37	chr3	134670497	134670497	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaggccccctacctcaaAgtagacaccattgctgcaga	8	14	2	3			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:134670497A>C	uc003eqt.2	+	3	628	c.408A>C	c.(406-408)AAA>AAC	p.K136N	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Missense_Mutation_p.K136N	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	136	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						CCTACCTCAAAGTAGACACCA	0.507													C	134670497	A	C	134670497	3	2	128	1	0	0	0	0	1	0	0	0	5174	69	3	5	418	5	EPHB1	3	134670497	Missense_Mutation	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08	3937380	134670497	63351933	65	75742											
EPHB1	2047	broad.mit.edu	37	chr3	134851755	134851755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggcagctgggcctgacGgagtgccgcgtctccatcag	14	15	2	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:134851755G>A	uc003eqt.2	+	5	1381	c.1161G>A	c.(1159-1161)ACG>ACA	p.T387T	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	387	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.T387M(2)|p.T387T(2)		lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						TGGGCCTGACGGAGTGCCGCG	0.612													A	134851755	G	A	134851755	2	1	128	1	0	0	0	0	0	0	0	1	5174	1103	39	1		1	EPHB1	3	134851755	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	181258	134851755	63170675	66	75743											
ZBTB38	253461	broad.mit.edu	37	chr3	141162920	141162920	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctagtgtctatccgtatAaactttataggctactgcct	7	10	1	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:141162920A>G	uc003etw.2	+	8	2672	c.1690A>G	c.(1690-1692)AAA>GAA	p.K564E	ZBTB38_uc010hun.2_Missense_Mutation_p.K561E|ZBTB38_uc010huo.2_Missense_Mutation_p.K564E|ZBTB38_uc003ety.2_Missense_Mutation_p.K564E|ZBTB38_uc010hup.2_Missense_Mutation_p.K565E	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	564					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CTATCCGTATAAACTTTATAG	0.383													G	141162920	A	G	141162920	3	3	128	1	0	0	0	0	1	0	0	0	17536	363	13	3	1692	3	ZBTB38	3	141162920	Missense_Mutation	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08	6311165	141162920	56859510	67	75744											
ZIC1	7545	broad.mit.edu	37	chr3	147128475	147128475	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggagcactatgctgcgccGcagctgcacggctacgggcc	14	15	0	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:147128475G>A	uc003ewe.2	+	1	1295	c.576G>A	c.(574-576)CCG>CCA	p.P192P		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	192					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						ATGCTGCGCCGCAGCTGCACG	0.657													A	147128475	G	A	147128475	2	1	128	1	0	0	0	0	0	0	0	1	17675	1074	38	1		1	ZIC1	3	147128475	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	5965555	147128475	50893955	68	75745											
ZBBX	79740	broad.mit.edu	37	chr3	167039951	167039951	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttccatataggatagaatgtCttctttaagttcaatattaa	5	5	3	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:167039951C>A	uc003fep.2	-	12	1260	c.937G>T	c.(937-939)GAC>TAC	p.D313Y	ZBBX_uc011bpc.1_Missense_Mutation_p.D313Y|ZBBX_uc003feq.2_Missense_Mutation_p.D284Y	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	313						intracellular	zinc ion binding			ovary(2)	2						GATAGAATGTCTTCTTTAAGT	0.279													A	167039951	C	A	167039951	3	1	128	1	0	0	0	0	1	0	0	0	17513	913	32	5	1505	5	ZBBX	3	167039951	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	19911476	167039951	30982479	69	75746											
TNK2	10188	broad.mit.edu	37	chr3	195595338	195595338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtccagcagggagcaggCgtccatggccagctgcgcca	14	15	0	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:195595338C>T	uc003fvu.1	-	12	2329	c.1786G>A	c.(1786-1788)GCC>ACC	p.A596T	TNK2_uc003fvq.1_Missense_Mutation_p.A3T|TNK2_uc003fvr.1_Missense_Mutation_p.A121T|TNK2_uc003fvs.1_Missense_Mutation_p.A628T|TNK2_uc003fvt.1_Missense_Mutation_p.A674T|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_3'UTR	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	596	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	AGGGAGCAGGCGTCCATGGCC	0.746													T	195595338	C	T	195595338	3	4	128	1	0	0	0	0	1	0	0	0	16315	768	27	1	1346	1	TNK2	3	195595338	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	28555387	195595338	2427092	70	75747											
SLC26A1	10861	broad.mit.edu	37	chr4	984120	984120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgagaggtaggcggacaCgaagcccagccggaggacgc	17	11	0	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr4:984120C>T	uc003gcb.2	-	4	985	c.607G>A	c.(607-609)GTG>ATG	p.V203M	SLC26A1_uc003gbx.2_Intron|IDUA_uc003gby.2_Intron|IDUA_uc003gbz.2_Intron|IDUA_uc003gca.2_Intron|SLC26A1_uc003gcc.2_Missense_Mutation_p.V203M	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	solute carrier family 26, member 1 isoform a	203						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TAGGCGGACACGAAGCCCAGC	0.677													T	984120	C	T	984120	3	4	128	1	0	0	0	0	1	0	0	0	14514	536	19	1	1605	1	SLC26A1	4	984120	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08		984120	190170156	71	75748											
FAM193A	8603	broad.mit.edu	37	chr4	2701991	2701991	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaaggccacagaggggcaGtccaagccccgggcccagac	13	17	0	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr4:2701991G>A	uc010icl.2	+	17	3570	c.3219G>A	c.(3217-3219)CAG>CAA	p.Q1073Q	FAM193A_uc010ick.2_Silent_p.Q1273Q|FAM193A_uc003gfd.2_Silent_p.Q1073Q|FAM193A_uc011bvm.1_Silent_p.Q1095Q|FAM193A_uc011bvn.1_Silent_p.Q1073Q|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Silent_p.Q927Q	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	1073										ovary(3)	3						CAGAGGGGCAGTCCAAGCCCC	0.562													A	2701991	G	A	2701991	2	1	128	1	0	0	0	0	0	0	0	1	5524	1020	36	4		4	FAM193A	4	2701991	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	1717871	2701991	188452285	72	75749											
UGT2B15	7366	broad.mit.edu	37	chr4	69519913	69519913	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accatagggatcccatggtaGatcgcctcatagatgccatt	9	11	1	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr4:69519913G>A	uc011cal.1	-	5	1193	c.1155C>T	c.(1153-1155)ATC>ATT	p.I385I		NM_001076	NP_001067	P54855	UDB15_HUMAN	UDP glycosyltransferase 2B15 precursor	385					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0						TCCCATGGTAGATCGCCTCAT	0.423													A	69519913	G	A	69519913	2	1	128	1	0	0	0	0	0	0	0	1	16955	932	33	4		4	UGT2B15	4	69519913	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	66817922	69519913	121634363	73	75750											
GRID2	2895	broad.mit.edu	37	chr4	93225895	93225895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggattcgatcattcacatcGgtaagaaagtgttggtgcag	12	7	2	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr4:93225895G>A	uc011cdt.1	+	1	346	c.88G>A	c.(88-90)GGA>AGA	p.G30R	GRID2_uc010ikx.2_Missense_Mutation_p.G30R|GRID2_uc011cdu.1_Missense_Mutation_p.G30R	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	30	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CATTCACATCGGTAAGAAAGT	0.502													A	93225895	G	A	93225895	3	1	128	1	0	0	0	0	1	0	0	0	6772	1130	39	1	90	1	GRID2	4	93225895	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	23705982	93225895	97928381	74	75751											
IRX1	79192	broad.mit.edu	37	chr5	3599879	3599879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctcgccgctggcagcagccGacgttctcaagccccaggac	12	17	1	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr5:3599879G>A	uc003jde.2	+	2	869	c.817G>A	c.(817-819)GAC>AAC	p.D273N		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	273						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						GGCAGCAGCCGACGTTCTCAA	0.726													A	3599879	G	A	3599879	3	1	128	1	0	0	0	0	1	0	0	0	7843	1058	37	1	823	1	IRX1	5	3599879	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08		3599879	177315381	75	75752											
CTNND2	1501	broad.mit.edu	37	chr5	11022914	11022914	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttggagatgccgaccaacTtctcgatgccaccggcatcc	9	14	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr5:11022914T>G	uc003jfa.1	-	17	3111	c.2966A>C	c.(2965-2967)AAG>ACG	p.K989T	CTNND2_uc010itt.2_Missense_Mutation_p.K898T|CTNND2_uc011cmy.1_Missense_Mutation_p.K652T|CTNND2_uc011cmz.1_Missense_Mutation_p.K556T|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.K581T	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	989	ARM 9.				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						GCCGACCAACTTCTCGATGCC	0.498													G	11022914	T	G	11022914	3	3	128	1	0	0	0	0	1	0	0	0	4020	1609	56	5	735	5	CTNND2	5	11022914	Missense_Mutation	SNP	T	TCGA-BR-A4PE-01A-31D-A25D-08	7423035	11022914	169892346	76	75753											
TRIO	7204	broad.mit.edu	37	chr5	14492826	14492826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttctggtgttccgagccGccactgaccagtgccccgca	11	15	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr5:14492826G>A	uc003jff.2	+	49	7789	c.7783G>A	c.(7783-7785)GCC>ACC	p.A2595T	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2595	SH3 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GTTCCGAGCCGCCACTGACCA	0.572													A	14492826	G	A	14492826	3	1	128	1	0	0	0	0	1	0	0	0	16549	1087	38	1	7977	1	TRIO	5	14492826	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	3469912	14492826	166422434	77	75754											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576376	33576376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttctggctggtggtctcctCccagagggagcagagtgttg	16	9	2	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr5:33576376C>T	uc003jia.1	-	19	3918	c.3755G>A	c.(3754-3756)GGA>GAA	p.G1252E	ADAMTS12_uc010iuq.1_Missense_Mutation_p.G1167E	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1252	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GTGGTCTCCTCCCAGAGGGAG	0.532										HNSCC(64;0.19)			T	33576376	C	T	33576376	3	4	128	1	0	0	0	0	1	0	0	0	257	855	30	4	1053	4	ADAMTS12	5	33576376	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	19083550	33576376	147338884	78	75755											
IL6ST	3572	broad.mit.edu	37	chr5	55238562	55238562	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggatctggaacattaggcCagatgtgttttttaattctg	10	5	2	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr5:55238562C>T	uc003jqq.2	-	16	2210	c.1955G>A	c.(1954-1956)TGG>TAG	p.W652*	IL6ST_uc010iwb.2_Nonsense_Mutation_p.W591*|IL6ST_uc010iwc.2_Missense_Mutation_p.G165S|IL6ST_uc010iwd.2_5'UTR|IL6ST_uc011cqk.1_Nonsense_Mutation_p.W363*|IL6ST_uc003jqr.2_3'UTR	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	652	Cytoplasmic (Potential).|Box 1 motif.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AACATTAGGCCAGATGTGTTT	0.348			O		hepatocellular ca								T	55238562	C	T	55238562	4	4	128	1	0	0	0	0	0	1	0	0	7703	595	21	4	809	4	IL6ST	5	55238562	Nonsense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	21662186	55238562	125676698	79	75756											
FER	2241	broad.mit.edu	37	chr5	108436218	108436218	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagagtaaaaactgtatacaCaggtaaggagaacattttta	9	4	0	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr5:108436218C>G	uc003kop.1	+	17	2430	c.2046C>G	c.(2044-2046)CAC>CAG	p.H682Q	FER_uc011cvg.1_Missense_Mutation_p.H507Q	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	682	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		ACTGTATACACAGGTAAGGAG	0.323													G	108436218	C	G	108436218	3	3	128	1	0	0	0	0	1	0	0	0	5813	477	17	5	2104	5	FER	5	108436218	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	53197656	108436218	72479042	80	75757											
KDM3B	51780	broad.mit.edu	37	chr5	137727090	137727090	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaggctggcagctctgtggAccggaaagtgcctgcagagt	15	9	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr5:137727090A>C	uc003lcy.1	+	8	1969	c.1769A>C	c.(1768-1770)GAC>GCC	p.D590A	KDM3B_uc010jew.1_Missense_Mutation_p.D246A|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	590					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						AGCTCTGTGGACCGGAAAGTG	0.527													C	137727090	A	C	137727090	3	2	128	1	0	0	0	0	1	0	0	0	8127	275	10	5	1799	5	KDM3B	5	137727090	Missense_Mutation	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08	29290872	137727090	43188170	81	75758											
BAT2	7916	broad.mit.edu	37	chr6	31600501	31600501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgctgacacccaaggctGtgggaactcctgggggaggt	15	10	0	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr6:31600501G>A	uc003nvb.3	+	16	4300	c.4051G>A	c.(4051-4053)GTG>ATG	p.V1351M	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.V1351M	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1351	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						ACCCAAGGCTGTGGGAACTCC	0.582													A	31600501	G	A	31600501	3	1	128	1	0	0	0	0	1	0	0	0	1319	1377	48	4	4109	4	BAT2	6	31600501	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08		31600501	139514566	82	75759											
C6orf25	80739	broad.mit.edu	37	chr6	31692809	31692809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgccggctgtccacagcGgaccctgctgatgcctccac	10	20	0	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr6:31692809G>A	uc011doc.1	+	6	684	c.684G>A	c.(682-684)GCG>GCA	p.A228A	C6orf25_uc003nwk.2_Missense_Mutation_p.G235R|C6orf25_uc011dod.1_Silent_p.A184A|C6orf25_uc011doe.1_Silent_p.A204A|C6orf25_uc003nwo.2_Missense_Mutation_p.G191R|C6orf25_uc003nwn.2_3'UTR	NM_138272	NP_612116	O95866	G6B_HUMAN	G6B protein isoform G6b-B precursor	228	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity				0						TGTCCACAGCGGACCCTGCTG	0.587													A	31692809	G	A	31692809	2	1	128	1	0	0	0	0	0	0	0	1	2360	1117	39	1		1	C6orf25	6	31692809	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	92308	31692809	139422258	83	75760											
CPNE5	57699	broad.mit.edu	37	chr6	36710164	36710164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgccttcatgtaggacaCcagttggtcagggatctctg	12	10	3	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr6:36710164C>T	uc003omr.1	-	21	1730	c.1663G>A	c.(1663-1665)GTG>ATG	p.V555M	CPNE5_uc003omp.1_Missense_Mutation_p.V263M|CPNE5_uc010jwn.1_Missense_Mutation_p.V205M|CPNE5_uc003omq.1_Missense_Mutation_p.V205M	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	copine V	555										skin(1)	1						ATGTAGGACACCAGTTGGTCA	0.682													T	36710164	C	T	36710164	3	4	128	1	0	0	0	0	1	0	0	0	3815	507	18	4	122	4	CPNE5	6	36710164	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	5017355	36710164	134404903	84	75761											
APOBEC2	10930	broad.mit.edu	37	chr6	41029224	41029224	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagaggatgagcatgcggctGcccatgcagaggaagctttc	14	9	0	3			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr6:41029224G>T	uc003opl.2	+	2	436	c.289G>T	c.(289-291)GCC>TCC	p.A97S	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.2_Intron	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	97					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding				0	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCATGCGGCTGCCCATGCAGA	0.592													T	41029224	G	T	41029224	3	4	128	1	0	0	0	0	1	0	0	0	788	1319	46	5	295	5	APOBEC2	6	41029224	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	4319060	41029224	130085843	85	75762											
EYS	346007	broad.mit.edu	37	chr6	66094316	66094316	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattgaaacaccattcttcaTtcagacagttgatgctgagc	7	9	3	4			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr6:66094316T>C	uc011dxu.1	-	8	1800	c.1262A>G	c.(1261-1263)AAT>AGT	p.N421S	EYS_uc003peq.2_Missense_Mutation_p.N421S|EYS_uc003per.1_Missense_Mutation_p.N421S	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	421					response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						CCATTCTTCATTCAGACAGTT	0.323													C	66094316	T	C	66094316	3	2	128	1	0	0	0	0	1	0	0	0	5332	1493	52	3	8278	3	EYS	6	66094316	Missense_Mutation	SNP	T	TCGA-BR-A4PE-01A-31D-A25D-08	25065092	66094316	105020751	86	75763											
VNN2	8875	broad.mit.edu	37	chr6	133070863	133070863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccaggtgacagatgaatttCggtaagtagcacttcaggaa	11	7	1	3			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr6:133070863C>T	uc003qdt.2	-	6	1353	c.1342G>A	c.(1342-1344)GAA>AAA	p.E448K	VNN2_uc003qds.2_Missense_Mutation_p.E157K|VNN2_uc010kgb.2_Missense_Mutation_p.E227K|VNN2_uc003qdv.2_Missense_Mutation_p.E395K	NM_004665	NP_004656	O95498	VNN2_HUMAN	vanin 2 isoform 1 precursor	448					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		AGATGAATTTCGGTAAGTAGC	0.373													T	133070863	C	T	133070863	3	4	128	1	0	0	0	0	1	0	0	0	17180	893	31	1	228	1	VNN2	6	133070863	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	66976547	133070863	38044204	87	75764											
PHACTR2	9749	broad.mit.edu	37	chr6	144086875	144086875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttgggctgaagagccgaCgaacagaaccactctctact	9	12	2	3			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr6:144086875C>T	uc003qjq.3	+	6	1269	c.1139C>T	c.(1138-1140)ACG>ATG	p.T380M	PHACTR2_uc010khh.2_Missense_Mutation_p.T300M|PHACTR2_uc010khi.2_Missense_Mutation_p.T391M|PHACTR2_uc003qjr.3_Missense_Mutation_p.T311M	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	380							actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GAAGAGCCGACGAACAGAACC	0.493													T	144086875	C	T	144086875	3	4	128	1	0	0	0	0	1	0	0	0	11810	536	19	1	1211	1	PHACTR2	6	144086875	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	11016012	144086875	27028192	88	75765											
MAS1	4142	broad.mit.edu	37	chr6	160328940	160328940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaaagacaattgtaataCggtcacagttgagactgtcg	10	8	1	3	rs148082809	by1000genomes	TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr6:160328940C>T	uc003qsz.2	+	1	967	c.953C>T	c.(952-954)ACG>ATG	p.T318M		NM_002377	NP_002368	P04201	MAS_HUMAN	MAS1 oncogene	318	Cytoplasmic (Potential).				anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			ovary(2)|lung(2)	4		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		AATTGTAATACGGTCACAGTT	0.408													T	160328940	C	T	160328940	3	4	128	1	0	0	0	0	1	0	0	0	9320	536	19	1	955	1	MAS1	6	160328940	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	16242065	160328940	10786127	89	75766											
ZNF12	7559	broad.mit.edu	37	chr7	6731413	6731413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttctgcgagaaggttttcCcacagtcatgacaaacataa	7	10	2	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:6731413C>T	uc003sqt.1	-	5	1714	c.1160G>A	c.(1159-1161)GGG>GAG	p.G387E	ZNF12_uc011jxa.1_Missense_Mutation_p.G225E|ZNF12_uc003sqs.1_Missense_Mutation_p.G349E	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	387	C2H2-type 5.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GAAGGTTTTCCCACAGTCATG	0.428													T	6731413	C	T	6731413	3	4	128	1	0	0	0	0	1	0	0	0	17715	623	22	4	937	4	ZNF12	7	6731413	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08		6731413	152407250	90	75767											
THSD7A	221981	broad.mit.edu	37	chr7	11675950	11675950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgttctttattcttcccgcGtctccttgcttgtcttactt	5	14	4	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:11675950G>A	uc003ssf.3	-	2	1081	c.829C>T	c.(829-831)CGC>TGC	p.R277C		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	277	Extracellular (Potential).|Potential.					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTCTTCCCGCGTCTCCTTGCT	0.537										HNSCC(18;0.044)			A	11675950	G	A	11675950	3	1	128	1	0	0	0	0	1	0	0	0	15876	1145	40	1	4248	1	THSD7A	7	11675950	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	4944537	11675950	147462713	91	75768											
OSBPL3	26031	broad.mit.edu	37	chr7	24892163	24892163	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaccaatgacctgagcagacGgggaggaggaggcatcctgc	16	10	0	3	rs149871533		TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:24892163G>C	uc003sxf.2	-	11	1523	c.1118C>G	c.(1117-1119)CCG>CGG	p.P373R	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.P373R|OSBPL3_uc003sxh.2_Missense_Mutation_p.P342R|OSBPL3_uc003sxi.2_Missense_Mutation_p.P342R|OSBPL3_uc003sxj.1_Missense_Mutation_p.P138R|OSBPL3_uc003sxk.1_Missense_Mutation_p.P107R	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	373					lipid transport		lipid binding|protein binding			skin(1)	1						CTGAGCAGACGGGGAGGAGGA	0.483													C	24892163	G	C	24892163	3	2	128	1	0	0	0	0	1	0	0	0	11279	1116	39	5	1597	5	OSBPL3	7	24892163	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	13216213	24892163	134246500	92	75769											
HOXA3	3200	broad.mit.edu	37	chr7	27147987	27147987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttggagaagggcgggggCgactggggctcatacgggac	21	8	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:27147987C>T	uc011jzl.1	-	3	1079	c.879G>A	c.(877-879)TCG>TCA	p.S293S	HOXA3_uc011jzk.1_Silent_p.S135S|HOXA3_uc003syk.2_Silent_p.S293S	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	293					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2						AGGGCGGGGGCGACTGGGGCT	0.706													T	27147987	C	T	27147987	2	4	128	1	0	0	0	0	0	0	0	1	7293	755	27	1		1	HOXA3	7	27147987	Silent	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	2255824	27147987	131990676	93	75770											
CDK13	8621	broad.mit.edu	37	chr7	40134196	40134196	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actacagtactgcttcatctCattctggtggtccacctcag	7	13	4	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:40134196C>G	uc003thh.3	+	14	4438	c.4156C>G	c.(4156-4158)CAT>GAT	p.H1386D	CDK13_uc003thi.3_Missense_Mutation_p.H1326D|CDK13_uc003thj.2_Missense_Mutation_p.H437D|CDK13_uc003thk.2_Missense_Mutation_p.H319D	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1386					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						TGCTTCATCTCATTCTGGTGG	0.443													G	40134196	C	G	40134196	3	3	128	1	0	0	0	0	1	0	0	0	3129	826	29	5	4210	5	CDK13	7	40134196	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	12986209	40134196	119004467	94	75771											
GBAS	2631	broad.mit.edu	37	chr7	56045959	56045962	+	Splice_Site	DEL	GTGA	GTGA	-													caatctatacaaattacagtGtgagtgacaggtttgctatc							TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:56045958_56045961TGTGA>T	uc003tre.2	+	2	265	c.232_splice	c.e2+1	p.F78_splice	GBAS_uc003trf.2_Splice_Site_p.F78_splice	NM_001483	NP_001474	O75323	NIPS2_HUMAN	Homo sapiens glioblastoma amplified sequence (GBAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	78						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAAATTACAGTGTGAGTGACAGGT	0.368													-	56045962	GTGA	-	56045959	8	5	128	1	0	1	0	1	0	0	1	0	6269	1391	48	0	239	0	GBAS	7	56045959	Splice_Site	DEL	GTGA	TCGA-BR-A4PE-01A-31D-A25D-08	15911763	56045959	103092704	95	75772											
CACNA2D1	781	broad.mit.edu	37	chr7	82072713	82072713	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaacggctcctccgacgaGgggccgatgagcaaagattg	16	10	0	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:82072713G>A	uc003uhr.1	-	1	319	c.63C>T	c.(61-63)CCC>CCT	p.P21P		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	21						voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CCTCCGACGAGGGGCCGATGA	0.483													A	82072713	G	A	82072713	2	1	128	1	0	0	0	0	0	0	0	1	2548	987	35	4		4	CACNA2D1	7	82072713	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	26026754	82072713	77065950	96	75773											
ZNF804B	219578	broad.mit.edu	37	chr7	88962859	88962859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggtccaccatgccaaatcGacaccaattacaatcagaca	6	14	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:88962859G>A	uc011khi.1	+	4	1101	c.563G>A	c.(562-564)CGA>CAA	p.R188Q		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	188						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATGCCAAATCGACACCAATTA	0.413										HNSCC(36;0.09)			A	88962859	G	A	88962859	3	1	128	1	0	0	0	0	1	0	0	0	18168	1058	37	1	577	1	ZNF804B	7	88962859	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	6890146	88962859	70175804	97	75774											
PIK3CG	5294	broad.mit.edu	37	chr7	106509085	106509085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgggactgcgaccgcaAgttcagggtcaagatcagag	14	10	3	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:106509085A>G	uc003vdv.3	+	2	1164	c.1079A>G	c.(1078-1080)AAG>AGG	p.K360R	PIK3CG_uc003vdu.2_Missense_Mutation_p.K360R|PIK3CG_uc003vdw.2_Missense_Mutation_p.K360R	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	360					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						TGCGACCGCAAGTTCAGGGTC	0.562													G	106509085	A	G	106509085	3	3	128	1	0	0	0	0	1	0	0	0	11916	72	3	3	1081	3	PIK3CG	7	106509085	Missense_Mutation	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08	17546226	106509085	52629578	98	75775											
LAMB1	3912	broad.mit.edu	37	chr7	107626654	107626654	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agggttcaatgtcagaatatCgagaatcacaaattatgtca	8	6	4	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:107626654C>G	uc003vew.2	-	6	913	c.578G>C	c.(577-579)CGA>CCA	p.R193P	LAMB1_uc003vev.2_Missense_Mutation_p.R217P|LAMB1_uc003vex.2_Missense_Mutation_p.R193P|LAMB1_uc010ljn.1_Missense_Mutation_p.R279P	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	193	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCAGAATATCGAGAATCACA	0.403													G	107626654	C	G	107626654	3	3	128	1	0	0	0	0	1	0	0	0	8610	884	31	5	4898	5	LAMB1	7	107626654	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	1117569	107626654	51512009	99	75776											
KCND2	3751	broad.mit.edu	37	chr7	119915591	119915591	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtcttcaggatctttaAgttttcccgccactctcaag	8	13	4	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:119915591A>C	uc003vjj.1	+	1	1870	c.905A>C	c.(904-906)AAG>ACG	p.K302T		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	302	Helical; Voltage-sensor; Name=Segment S4; (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					AGGATCTTTAAGTTTTCCCGC	0.527													C	119915591	A	C	119915591	3	2	128	1	0	0	0	0	1	0	0	0	8019	72	3	5	907	5	KCND2	7	119915591	Missense_Mutation	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08	12288937	119915591	39223072	100	75777											
DGKI	9162	broad.mit.edu	37	chr7	137080436	137080436	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccttgtgcagtgcagTctcacccctaaatcaaagat	9	12	2	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:137080436T>G	uc003vtt.2	-	33	2990	c.2989A>C	c.(2989-2991)ACT>CCT	p.T997P	DGKI_uc003vtu.2_Missense_Mutation_p.T666P	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	997	ANK 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						TGCAGTGCAGTCTCACCCCTA	0.567													G	137080436	T	G	137080436	3	3	128	1	0	0	0	0	1	0	0	0	4471	1667	58	5	216	5	DGKI	7	137080436	Missense_Mutation	SNP	T	TCGA-BR-A4PE-01A-31D-A25D-08	17164845	137080436	22058227	101	75778											
KIAA1549	57670	broad.mit.edu	37	chr7	138602357	138602357	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagatcactagagtcaaacAatgtaaatgtctcaaccaag	7	9	3	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:138602357A>G	uc011kql.1	-	2	2064	c.2015T>C	c.(2014-2016)TTG>TCG	p.L672S	KIAA1549_uc003vuk.3_Missense_Mutation_p.L622S|KIAA1549_uc011kqj.1_Missense_Mutation_p.L672S	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	672	Ser-rich.					integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						AGAGTCAAACAATGTAAATGT	0.488			O	BRAF	pilocytic astrocytoma								G	138602357	A	G	138602357	3	3	128	1	0	0	0	0	1	0	0	0	8244	131	5	3	3913	3	KIAA1549	7	138602357	Missense_Mutation	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08	1521921	138602357	20536306	102	75779											
UBN2	254048	broad.mit.edu	37	chr7	138943256	138943256	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgatgaattagttcccgcttCtctaacaacaaaatatggag	7	8	1	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:138943256C>T	uc011kqr.1	+	4	686	c.686C>T	c.(685-687)TCT>TTT	p.S229F	UBN2_uc003vuv.2_5'UTR	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	229										ovary(1)|skin(1)	2						GTTCCCGCTTCTCTAACAACA	0.343													T	138943256	C	T	138943256	3	4	128	1	0	0	0	0	1	0	0	0	16890	913	32	4	700	4	UBN2	7	138943256	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	340899	138943256	20195407	103	75780											
CSMD1	64478	broad.mit.edu	37	chr8	3087591	3087591	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taggagggtctggttgccaaAagaaccggttattcagctgc	13	8	2	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:3087591A>C	uc011kwk.1	-	27	4709	c.4319T>G	c.(4318-4320)TTT>TGT	p.F1440C	CSMD1_uc011kwj.1_Missense_Mutation_p.F832C|CSMD1_uc003wqe.2_Missense_Mutation_p.F596C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1440	Extracellular (Potential).|Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGTTGCCAAAAGAACCGGTT	0.468													C	3087591	A	C	3087591	3	2	128	1	0	0	0	0	1	0	0	0	3944	14	1	5	6554	5	CSMD1	8	3087591	Missense_Mutation	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08		3087591	143276431	104	75781											
RP1L1	94137	broad.mit.edu	37	chr8	10469206	10469206	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaccaagggtgaggagggcTgaggcgtgtccctggcctct	17	10	1	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:10469206T>C	uc003wtc.2	-	4	2631	c.2402A>G	c.(2401-2403)CAG>CGG	p.Q801R		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	801					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		TGAGGAGGGCTGAGGCGTGTC	0.682													C	10469206	T	C	10469206	3	2	128	1	0	0	0	0	1	0	0	0	13533	1580	55	3	4804	3	RP1L1	8	10469206	Missense_Mutation	SNP	T	TCGA-BR-A4PE-01A-31D-A25D-08	7381615	10469206	135894816	105	75782											
PHYHIP	9796	broad.mit.edu	37	chr8	22079330	22079330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaccccgtggagcatacCgctggtgggggagccgtggc	18	11	0	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:22079330C>T	uc003xbk.3	-	6	1223	c.529G>A	c.(529-531)GGT>AGT	p.G177S	PHYHIP_uc003xbj.3_Missense_Mutation_p.G177S	NM_001099335	NP_001092805	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	177											0				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TGGAGCATACCGCTGGTGGGG	0.657													T	22079330	C	T	22079330	3	4	128	1	0	0	0	0	1	0	0	0	11866	652	23	1	467	1	PHYHIP	8	22079330	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	11610124	22079330	124284692	106	75783											
NEFM	4741	broad.mit.edu	37	chr8	24772194	24772194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtggttcaaatgccgctaCgccaagctcaccgaggcggc	13	13	2	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:24772194C>T	uc003xed.3	+	1	921	c.888C>T	c.(886-888)TAC>TAT	p.Y296Y	NEFM_uc011lac.1_Silent_p.Y296Y|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	296	Rod.|Coil 2B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AATGCCGCTACGCCAAGCTCA	0.607													T	24772194	C	T	24772194	2	4	128	1	0	0	0	0	0	0	0	1	10316	547	19	1		1	NEFM	8	24772194	Silent	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	2692864	24772194	121591828	107	75784											
NEFM	4741	broad.mit.edu	37	chr8	24772258	24772258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccgccaaggaagagatcGccgagtaccggcgccagctg	14	14	0	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:24772258G>A	uc003xed.3	+	1	985	c.952G>A	c.(952-954)GCC>ACC	p.A318T	NEFM_uc011lac.1_Missense_Mutation_p.A318T|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'Flank	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	318	Rod.|Coil 2B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGAAGAGATCGCCGAGTACCG	0.642													A	24772258	G	A	24772258	3	1	128	1	0	0	0	0	1	0	0	0	10316	1087	38	1	954	1	NEFM	8	24772258	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	64	24772258	121591764	108	75785											
OPRK1	4986	broad.mit.edu	37	chr8	54142060	54142060	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atagcctaaggcgatgcagaAgtaatagctggagagagcag	14	6	0	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:54142060A>C	uc003xrh.1	-	3	1315	c.940T>G	c.(940-942)TTC>GTC	p.F314V	OPRK1_uc003xri.1_Missense_Mutation_p.F314V|OPRK1_uc010lyc.1_Missense_Mutation_p.F225V	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	314	Helical; Name=7; (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GCGATGCAGAAGTAATAGCTG	0.522													C	54142060	A	C	54142060	3	2	128	1	0	0	0	0	1	0	0	0	10885	72	3	5	206	5	OPRK1	8	54142060	Missense_Mutation	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08	29369802	54142060	92221962	109	75786											
OPRK1	4986	broad.mit.edu	37	chr8	54142218	54142218	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcgatctttctctcgggagCcagaaaggagccggacgctc	13	12	2	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:54142218C>A	uc003xrh.1	-	3	1157	c.782G>T	c.(781-783)GGC>GTC	p.G261V	OPRK1_uc003xri.1_Missense_Mutation_p.G261V|OPRK1_uc010lyc.1_Missense_Mutation_p.G172V	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	261	Cytoplasmic (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CTCTCGGGAGCCAGAAAGGAG	0.542													A	54142218	C	A	54142218	3	1	128	1	0	0	0	0	1	0	0	0	10885	739	26	5	364	5	OPRK1	8	54142218	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	158	54142218	92221804	110	75787											
PREX2	80243	broad.mit.edu	37	chr8	68968087	68968087	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaattaggaatggagcaAgatacctgggtcatgatctc	10	6	2	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:68968087A>C	uc003xxv.1	+	10	1143	c.1116A>C	c.(1114-1116)CAA>CAC	p.Q372H	PREX2_uc003xxu.1_Missense_Mutation_p.Q372H|PREX2_uc011lez.1_Missense_Mutation_p.Q307H	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	372					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GAATGGAGCAAGATACCTGGG	0.338													C	68968087	A	C	68968087	3	2	128	1	0	0	0	0	1	0	0	0	12477	69	3	5	1154	5	PREX2	8	68968087	Missense_Mutation	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08	14825869	68968087	77395935	111	75788											
TRPA1	8989	broad.mit.edu	37	chr8	72946496	72946496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcttacctgtaaattcaggAggatgtaaaagctgagtcca	10	7	2	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:72946496A>G	uc003xza.2	-	22	2847	c.2672T>C	c.(2671-2673)CTC>CCC	p.L891P	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	891	Helical; Name=5; (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	TAAATTCAGGAGGATGTAAAA	0.299													G	72946496	A	G	72946496	3	3	128	1	0	0	0	0	1	0	0	0	16574	304	11	3	711	3	TRPA1	8	72946496	Missense_Mutation	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08	3978409	72946496	73417526	112	75789											
PGCP	10404	broad.mit.edu	37	chr8	97797433	97797433	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagatgggctggagaaagTtcacctggagccagtgagaa	15	7	1	3			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:97797433T>G	uc003yhw.2	+	2	474	c.308T>G	c.(307-309)GTT>GGT	p.V103G	PGCP_uc010mbe.2_Missense_Mutation_p.V103G	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	plasma glutamate carboxypeptidase precursor	103					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity			upper_aerodigestive_tract(1)	1	Breast(36;1.86e-05)					CTGGAGAAAGTTCACCTGGAG	0.498													G	97797433	T	G	97797433	3	3	128	1	0	0	0	0	1	0	0	0	11786	1725	60	5	310	5	PGCP	8	97797433	Missense_Mutation	SNP	T	TCGA-BR-A4PE-01A-31D-A25D-08	24850937	97797433	48566589	113	75790											
RIMS2	9699	broad.mit.edu	37	chr8	104898096	104898096	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaggctcagggaccaagttcTtatgcacaaaggaccacaaa	10	10	2	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:104898096T>A	uc003yls.2	+	2	844	c.603T>A	c.(601-603)TCT>TCA	p.S201S	RIMS2_uc003ylp.2_Silent_p.S423S|RIMS2_uc003ylw.2_Silent_p.S231S|RIMS2_uc003ylq.2_Silent_p.S231S|RIMS2_uc003ylr.2_Silent_p.S231S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	454					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S231S(1)		ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACCAAGTTCTTATGCACAAA	0.478										HNSCC(12;0.0054)			A	104898096	T	A	104898096	2	1	128	1	0	0	0	0	0	0	0	1	13368	1596	56	5		5	RIMS2	8	104898096	Silent	SNP	T	TCGA-BR-A4PE-01A-31D-A25D-08	7100663	104898096	41465926	114	75791											
CSMD3	114788	broad.mit.edu	37	chr8	113569030	113569030	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatagtcccatgcccttctcTcccctgtcatgcacttgaga	7	15	2	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:113569030T>A	uc003ynu.2	-	25	4355	c.4196A>T	c.(4195-4197)GAG>GTG	p.E1399V	CSMD3_uc003yns.2_Missense_Mutation_p.E671V|CSMD3_uc003ynt.2_Missense_Mutation_p.E1359V|CSMD3_uc011lhx.1_Missense_Mutation_p.E1295V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1399	Extracellular (Potential).|Sushi 7.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TGCCCTTCTCTCCCCTGTCAT	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113569030	T	A	113569030	3	1	128	1	0	0	0	0	1	0	0	0	3946	1551	54	5	7115	5	CSMD3	8	113569030	Missense_Mutation	SNP	T	TCGA-BR-A4PE-01A-31D-A25D-08	8670934	113569030	32794992	115	75792											
PSCA	8000	broad.mit.edu	37	chr8	143763429	143763429	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacgtgggcaagaagaacaTcacgtgctgtgacaccgact	11	11	1	3			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:143763429T>G	uc003ywu.2	+	3	306	c.251T>G	c.(250-252)ATC>AGC	p.I84S	uc003ywt.1_5'Flank	NM_005672	NP_005663	O43653	PSCA_HUMAN	prostate stem cell antigen preproprotein	75											0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AAGAAGAACATCACGTGCTGT	0.627													G	143763429	T	G	143763429	3	3	128	1	0	0	0	0	1	0	0	0	12645	1435	50	5	234	5	PSCA	8	143763429	Missense_Mutation	SNP	T	TCGA-BR-A4PE-01A-31D-A25D-08	30194399	143763429	2600593	116	75793											
ZNF517	340385	broad.mit.edu	37	chr8	146033211	146033211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttctgccgcaggttcaccCtcaacgagcacggccgcatc	10	17	3	0	rs148736241		TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:146033211C>T	uc003zed.1	+	5	1017	c.910C>T	c.(910-912)CTC>TTC	p.L304F	ZNF517_uc010mgd.1_Missense_Mutation_p.L210F|ZNF517_uc003zee.1_RNA|ZNF517_uc011llm.1_Missense_Mutation_p.L210F|ZNF517_uc003zef.1_Intron	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	304	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			CAGGTTCACCCTCAACGAGCA	0.687													T	146033211	C	T	146033211	3	4	128	1	0	0	0	0	1	0	0	0	17958	681	24	4	924	4	ZNF517	8	146033211	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	2269782	146033211	330811	117	75794											
GLIPR2	152007	broad.mit.edu	37	chr9	36147845	36147845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaccggcagaagcacggcGtccccccactgaagctctgc	11	16	1	2	rs139645817	byFrequency	TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr9:36147845G>A	uc003zyz.2	+	2	110	c.76G>A	c.(76-78)GTC>ATC	p.V26I	GLIPR2_uc011lpj.1_Missense_Mutation_p.V26I|GLIPR2_uc010mlf.1_Missense_Mutation_p.V26I|GLIPR2_uc003zza.2_RNA|GLIPR2_uc003zyy.1_Missense_Mutation_p.V26I	NM_022343	NP_071738	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	26						extracellular region|Golgi membrane				skin(3)|central_nervous_system(1)	4						GAAGCACGGCGTCCCCCCACT	0.537													A	36147845	G	A	36147845	3	1	128	1	0	0	0	0	1	0	0	0	6444	1145	40	1	82	1	GLIPR2	9	36147845	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08		36147845	105065586	118	75795											
DAPK1	1612	broad.mit.edu	37	chr9	90301573	90301573	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagggatgctggaggtgtttGtggccccgacccaccacccg	14	13	0	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr9:90301573G>T	uc004apc.2	+	21	2470	c.2332G>T	c.(2332-2334)GTG>TTG	p.V778L	DAPK1_uc004apd.2_Missense_Mutation_p.V778L|DAPK1_uc011ltg.1_Missense_Mutation_p.V778L|DAPK1_uc011lth.1_Missense_Mutation_p.V515L	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	778					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						GGAGGTGTTTGTGGCCCCGAC	0.592									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				T	90301573	G	T	90301573	3	4	128	1	0	0	0	0	1	0	0	0	4235	1377	48	5	2410	5	DAPK1	9	90301573	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	54153728	90301573	50911858	119	75796											
FGD3	89846	broad.mit.edu	37	chr9	95772662	95772662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccagaccggaaggatgcGgagagtgagctggggccaag	18	10	0	3			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr9:95772662G>A	uc004asw.2	+	7	1600	c.972G>A	c.(970-972)GCG>GCA	p.A324A	FGD3_uc004asx.2_Silent_p.A324A|FGD3_uc004asz.2_Silent_p.A324A|FGD3_uc004ata.2_Silent_p.A127A	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	324	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						GGAAGGATGCGGAGAGTGAGC	0.657													A	95772662	G	A	95772662	2	1	128	1	0	0	0	0	0	0	0	1	5834	1103	39	1		1	FGD3	9	95772662	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	5471089	95772662	45440769	120	75797											
WNK2	65268	broad.mit.edu	37	chr9	95997175	95997175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctttgggatgtgcatgctGgagatggccacctcggagta	15	9	0	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr9:95997175G>A	uc004ati.1	+	4	1161	c.1161G>A	c.(1159-1161)CTG>CTA	p.L387L	WNK2_uc011lud.1_Silent_p.L387L|WNK2_uc004atj.2_Silent_p.L387L|WNK2_uc004atk.2_Silent_p.L24L|WNK2_uc010mrc.1_Silent_p.L387L|WNK2_uc010mrd.1_Silent_p.L24L	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	387	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						TGTGCATGCTGGAGATGGCCA	0.587													A	95997175	G	A	95997175	2	1	128	1	0	0	0	0	0	0	0	1	17375	1335	47	4		4	WNK2	9	95997175	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	224513	95997175	45216256	121	75798											
PRPF4	9128	broad.mit.edu	37	chr9	116053021	116053021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtttgggacctacgcacagGacgttgtatcatgttcttag	11	8	2	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr9:116053021G>A	uc004bgx.2	+	12	1240	c.1190G>A	c.(1189-1191)GGA>GAA	p.G397E	PRPF4_uc004bgy.2_Missense_Mutation_p.G396E	NM_004697	NP_004688	O43172	PRP4_HUMAN	PRP4 pre-mRNA processing factor 4 homolog	397	WD 4.					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			ovary(2)|pancreas(1)	3						CTACGCACAGGACGTTGTATC	0.413													A	116053021	G	A	116053021	3	1	128	1	0	0	0	0	1	0	0	0	12570	1174	41	4	1236	4	PRPF4	9	116053021	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	20055846	116053021	25160410	122	75799											
AKNA	80709	broad.mit.edu	37	chr9	117099370	117099370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgcaggctgtgagcctgGcgcaggtcggctgacagcga	16	14	0	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr9:117099370G>A	uc004biq.3	-	21	4419	c.4284C>T	c.(4282-4284)CGC>CGT	p.R1428R	AKNA_uc004bin.3_Silent_p.R675R|AKNA_uc004bio.3_Silent_p.R888R|AKNA_uc004bip.3_Silent_p.R1347R|AKNA_uc004bir.3_Silent_p.R1428R|AKNA_uc004bis.3_Silent_p.R1428R|AKNA_uc010mve.2_Silent_p.R1309R	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6						TGTGAGCCTGGCGCAGGTCGG	0.677													A	117099370	G	A	117099370	2	1	128	1	0	0	0	0	0	0	0	1	463	1190	42	2		2	AKNA	9	117099370	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	1046349	117099370	24114061	123	75800											
DBC1	1620	broad.mit.edu	37	chr9	121971060	121971060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgaggccgaaaagcttgCgggcagtgcgttggatcttt	14	9	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr9:121971060C>T	uc004bkc.2	-	7	1538	c.1082G>A	c.(1081-1083)CGC>CAC	p.R361H		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	361					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						GAAAAGCTTGCGGGCAGTGCG	0.582													T	121971060	C	T	121971060	3	4	128	1	0	0	0	0	1	0	0	0	4247	768	27	1	1211	1	DBC1	9	121971060	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	4871690	121971060	19242371	124	75801											
GFI1B	8328	broad.mit.edu	37	chr9	135866288	135866288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacaagtgccaggtgtgcGgaaaggccttcagccagagc	14	12	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr9:135866288G>A	uc004ccg.2	+	7	995	c.844G>A	c.(844-846)GGA>AGA	p.G282R	GFI1B_uc010mzy.2_Missense_Mutation_p.G236R	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription	282	C2H2-type 5.|Mediates interaction with GATA1.|Interaction with ARIH2.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CCAGGTGTGCGGAAAGGCCTT	0.647													A	135866288	G	A	135866288	3	1	128	1	0	0	0	0	1	0	0	0	6340	1117	39	1	866	1	GFI1B	9	135866288	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	13895228	135866288	5347143	125	75802											
COL5A1	1289	broad.mit.edu	37	chr9	137693842	137693842	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggcccccccggcgtgGtcggccctcaggtaagctcc	12	19	1	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr9:137693842G>C	uc004cfe.2	+	38	3377	c.2995G>C	c.(2995-2997)GTC>CTC	p.V999L		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	999	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCGGCGTGGTCGGCCCTCA	0.657													C	137693842	G	C	137693842	3	2	128	1	0	0	0	0	1	0	0	0	3696	1261	44	5	3145	5	COL5A1	9	137693842	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	1827554	137693842	3519589	126	75803											
LCN9	392399	broad.mit.edu	37	chr9	138556088	138556088	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatggagacctgagggtcttCgtccggaatattgaacactt	11	8	1	3			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr9:138556088C>T	uc004cgk.1	+	2	177	c.177C>T	c.(175-177)TTC>TTT	p.F59F		NM_001001676	NP_001001676	Q8WX39	LCN9_HUMAN	lipocalin 9	59						extracellular region	pheromone binding|transporter activity			large_intestine(2)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		TGAGGGTCTTCGTCCGGAATA	0.468													T	138556088	C	T	138556088	2	4	128	1	0	0	0	0	0	0	0	1	8687	883	31	1		1	LCN9	9	138556088	Silent	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	862246	138556088	2657343	127	75804											
CAMSAP1	157922	broad.mit.edu	37	chr9	138707824	138707824	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttgggttacggctcagTatgggcagggcttccatcga	14	10	1	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr9:138707824T>C	uc004cgr.3	-	15	4299	c.4299A>G	c.(4297-4299)ATA>ATG	p.I1433M	CAMSAP1_uc004cgq.3_Missense_Mutation_p.I1323M|CAMSAP1_uc010nbg.2_Missense_Mutation_p.I1155M	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1433						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TACGGCTCAGTATGGGCAGGG	0.617													C	138707824	T	C	138707824	3	2	128	1	0	0	0	0	1	0	0	0	2611	1628	57	3	521	3	CAMSAP1	9	138707824	Missense_Mutation	SNP	T	TCGA-BR-A4PE-01A-31D-A25D-08	151736	138707824	2505607	128	75805											
ITIH5	80760	broad.mit.edu	37	chr10	7683969	7683969	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcttcagaagctctgttcaGcattctgcaggaaaccgtag	10	10	5	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:7683969G>T	uc001ijq.2	-	3	299	c.220C>A	c.(220-222)CTG>ATG	p.L74M	ITIH5_uc001ijr.1_Missense_Mutation_p.L74M	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	74	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						GCTCTGTTCAGCATTCTGCAG	0.453													T	7683969	G	T	7683969	3	4	128	1	0	0	0	0	1	0	0	0	7907	962	34	5	2793	5	ITIH5	10	7683969	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08		7683969	127850778	129	75806											
SVIL	6840	broad.mit.edu	37	chr10	29839533	29839533	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggatgcttacctgggtcGggcctcaggggatagctgtg	16	9	1	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:29839533G>A	uc001iut.1	-	6	1573	c.820C>T	c.(820-822)CGA>TGA	p.R274*	SVIL_uc001iuu.1_Nonsense_Mutation_p.R274*|SVIL_uc009xld.1_Nonsense_Mutation_p.R274*	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	274					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TACCTGGGTCGGGCCTCAGGG	0.582													A	29839533	G	A	29839533	4	1	128	1	0	0	0	0	0	1	0	0	15418	1124	39	1	5956	1	SVIL	10	29839533	Nonsense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	22155564	29839533	105695214	130	75807											
ERCC6	2074	broad.mit.edu	37	chr10	50690777	50690777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccccatggtgatggggaCggagaactgctccataaaca	11	12	0	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:50690777C>T	uc001jhs.3	-	10	2279	c.2125G>A	c.(2125-2127)GTC>ATC	p.V709I	ERCC6_uc010qgr.1_Missense_Mutation_p.V79I|ERCC6_uc001jhr.3_Missense_Mutation_p.V109I	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	709					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						GTGATGGGGACGGAGAACTGC	0.438								Direct_reversal_of_damage|NER					T	50690777	C	T	50690777	3	4	128	1	0	0	0	0	1	0	0	0	5217	536	19	1	2404	1	ERCC6	10	50690777	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	20851244	50690777	84843970	131	75808											
PCDH15	65217	broad.mit.edu	37	chr10	55582575	55582576	+	Frame_Shift_Del	DEL	CT	CT	-													gtttcaccttgccttatttcCtctttctctgtcaaatttgc							TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:55582574_55582575CCT>C	uc010qhy.1	-	34	5327_5328	c.4932_4933AGG>G	c.(4930-4935)gaggaafs	p.E1644fs	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Frame_Shift_Del_p.E1639fs|PCDH15_uc021pqz.1_Frame_Shift_Del_p.E1614fs|PCDH15_uc010qhv.1_Frame_Shift_Del_p.E1634fs|PCDH15_uc010qhw.1_Frame_Shift_Del_p.E1597fs|PCDH15_uc010qhx.1_Frame_Shift_Del_p.E1568fs|PCDH15_uc010qhz.1_Frame_Shift_Del_p.E1639fs|PCDH15_uc010qia.1_Frame_Shift_Del_p.E1617fs|PCDH15_uc001jju.1_Frame_Shift_Del_p.E1637fs|PCDH15_uc010qib.1_Frame_Shift_Del_p.E1614fs	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1637					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCCTTATTTCCTCTTTCTCTG	0.401										HNSCC(58;0.16)			-	55582576	CT	-	55582575	7	5	128	1	0	1	0	1	0	0	0	0	11511	680	24	0	2566	0	PCDH15	10	55582575	Frame_Shift_Del	DEL	CT	TCGA-BR-A4PE-01A-31D-A25D-08	4891798	55582575	79952172	132	75809											
LRRTM3	347731	broad.mit.edu	37	chr10	68687592	68687592	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttggatatccctcaatgaCatcagtcttgctgggaatat	8	9	4	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:68687592C>A	uc001jmz.1	+	2	1468	c.918C>A	c.(916-918)GAC>GAA	p.D306E	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.D306E	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	306	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						CCCTCAATGACATCAGTCTTG	0.408													A	68687592	C	A	68687592	3	1	128	1	0	0	0	0	1	0	0	0	9041	477	17	5	924	5	LRRTM3	10	68687592	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	13105017	68687592	66847155	133	75810											
CDH23	64072	broad.mit.edu	37	chr10	73437442	73437442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgtcacacagctggtgCggctccgggtaaggtgccag	14	12	2	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:73437442C>T	uc001jrx.3	+	15	2121	c.1744C>T	c.(1744-1746)CGG>TGG	p.R582W	CDH23_uc001jry.2_Missense_Mutation_p.R198W|CDH23_uc001jrz.2_Missense_Mutation_p.R198W	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	582	Cadherin 6.|Extracellular (Potential).		R -> Q (in DFNB12).		calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						ACAGCTGGTGCGGCTCCGGGT	0.507													T	73437442	C	T	73437442	3	4	128	1	0	0	0	0	1	0	0	0	3108	759	27	1	2029	1	CDH23	10	73437442	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	4749850	73437442	62097305	134	75811											
PITX3	5309	broad.mit.edu	37	chr10	103990823	103990823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgctggctgcgctcgcgCttccgccatttggcgcgccg	14	17	0	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:103990823C>T	uc001kuu.1	-	4	511	c.357G>A	c.(355-357)AAG>AAA	p.K119K		NM_005029	NP_005020	O75364	PITX3_HUMAN	paired-like homeodomain 3	119	Homeobox.				dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGCGCTCGCGCTTCCGCCATT	0.721													T	103990823	C	T	103990823	2	4	128	1	0	0	0	0	0	0	0	1	11956	796	28	2		2	PITX3	10	103990823	Silent	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	30553381	103990823	31543924	135	75812											
GSTO1	9446	broad.mit.edu	37	chr10	106019439	106019439	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacagtcagggtcagctgatCtacgagtctgccatcacctg	10	12	5	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:106019439C>T	uc001kya.2	+	3	258	c.249C>T	c.(247-249)ATC>ATT	p.I83I		NM_004832	NP_004823	P78417	GSTO1_HUMAN	glutathione-S-transferase omega 1	83	GST N-terminal.				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity				0		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)	GTCAGCTGATCTACGAGTCTG	0.463													T	106019439	C	T	106019439	2	4	128	1	0	0	0	0	0	0	0	1	6842	903	32	4		4	GSTO1	10	106019439	Silent	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	2028616	106019439	29515308	136	75813											
SORCS3	22986	broad.mit.edu	37	chr10	107007078	107007078	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttggcaatgtcatcaagcgaGctctggttaaagtaagttgg	12	6	3	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:107007078G>C	uc001kyi.1	+	22	3321	c.3094G>C	c.(3094-3096)GCT>CCT	p.A1032P	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	1032	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CATCAAGCGAGCTCTGGTTAA	0.378													C	107007078	G	C	107007078	3	2	128	1	0	0	0	0	1	0	0	0	14932	971	34	5	3180	5	SORCS3	10	107007078	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	987639	107007078	28527669	137	75814											
DCLRE1A	9937	broad.mit.edu	37	chr10	115602170	115602170	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcatgtgggtttagagttAcagcctcaaaggcagtgttg	14	6	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:115602170A>C	uc001law.2	-	6	3515	c.2597T>G	c.(2596-2598)GTA>GGA	p.V866G		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	866					cell division|mitosis	nucleus	hydrolase activity			skin(2)	2				Epithelial(162;0.0157)|all cancers(201;0.0171)		GTTTAGAGTTACAGCCTCAAA	0.413								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					C	115602170	A	C	115602170	3	2	128	1	0	0	0	0	1	0	0	0	4294	391	14	5	541	5	DCLRE1A	10	115602170	Missense_Mutation	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08	8595092	115602170	19932577	138	75815											
INPP5F	22876	broad.mit.edu	37	chr10	121586986	121586986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttgtcagttgagccagcGcattcagttgcatctcaaaa	8	9	3	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:121586986G>A	uc001leo.2	+	20	3259	c.3093G>A	c.(3091-3093)GCG>GCA	p.A1031A	INPP5F_uc001lep.2_Silent_p.A421A	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	1031							phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TTGAGCCAGCGCATTCAGTTG	0.483													A	121586986	G	A	121586986	2	1	128	1	0	0	0	0	0	0	0	1	7758	1074	38	1		1	INPP5F	10	121586986	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	5984816	121586986	13947761	139	75816											
CHST15	51363	broad.mit.edu	37	chr10	125769672	125769672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaattcagctctcacgtcGtcttccacgcaaacgcctca	5	16	4	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:125769672G>A	uc001lhl.2	-	7	2192	c.1679C>T	c.(1678-1680)ACG>ATG	p.T560M	CHST15_uc001lhm.2_Missense_Mutation_p.T560M|CHST15_uc001lhn.2_Missense_Mutation_p.T560M	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	560	Lumenal (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						CTCTCACGTCGTCTTCCACGC	0.552													A	125769672	G	A	125769672	3	1	128	1	0	0	0	0	1	0	0	0	3403	1145	40	1	10	1	CHST15	10	125769672	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	4182686	125769672	9765075	140	75817											
CTBP2	1488	broad.mit.edu	37	chr10	126692055	126692055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgttcatgatctgggggCggatacctgccaggagggaa	17	9	2	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:126692055C>T	uc009yak.2	-	4	352	c.65G>A	c.(64-66)CGC>CAC	p.R22H	CTBP2_uc009yal.2_Missense_Mutation_p.R22H|CTBP2_uc001lif.3_Missense_Mutation_p.R22H|CTBP2_uc001lih.3_Missense_Mutation_p.R22H|CTBP2_uc001lid.3_Missense_Mutation_p.R90H|CTBP2_uc001lie.3_Missense_Mutation_p.R562H	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	22					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GATCTGGGGGCGGATACCTGC	0.701													T	126692055	C	T	126692055	3	4	128	1	0	0	0	0	1	0	0	0	3998	768	27	1	1304	1	CTBP2	10	126692055	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	922383	126692055	8842692	141	75818											
MUC6	4588	broad.mit.edu	37	chr11	1017061	1017061	+	Frame_Shift_Del	DEL	T	T	-													gtaaggtagggatgtagaagTtttggccgtgctaaatgagc					rs71472140		TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr11:1017060_1017060GT>G	uc001lsw.2	-	30	5792	c.5741_5741AC>C	c.(5740-5742)actfs	p.T1914fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1914	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGATGTAGAAGTTTTGGCCGT	0.552													-	1017061	T	-	1017061	7	5	128	1	0	1	0	1	0	0	0	0	9980	1725	60	0	1591	0	MUC6	11	1017061	Frame_Shift_Del	DEL	T	TCGA-BR-A4PE-01A-31D-A25D-08		1017061	133989455	142	75819											
SLC5A12	159963	broad.mit.edu	37	chr11	26720006	26720006	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agggtcacagtctttaaagtGagagtacatgattaagccag	11	6	2	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr11:26720006G>A	uc001mra.2	-	7	1211	c.898C>T	c.(898-900)CAC>TAC	p.H300Y	SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Missense_Mutation_p.H300Y	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	300	Extracellular (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)|skin(1)	2						TCTTTAAAGTGAGAGTACATG	0.478													A	26720006	G	A	26720006	3	1	128	1	0	0	0	0	1	0	0	0	14664	1290	45	4	994	4	SLC5A12	11	26720006	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	25702945	26720006	108286510	143	75820											
LGR4	55366	broad.mit.edu	37	chr11	27393907	27393907	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cataagagtcacaaccccaaAatgcacagcactgataagca	6	12	1	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr11:27393907A>T	uc001mrj.3	-	16	1903	c.1418T>A	c.(1417-1419)TTT>TAT	p.F473Y	LGR4_uc001mrk.3_Missense_Mutation_p.F449Y	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	leucine-rich repeat-containing G protein-coupled	473	Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1						ACAACCCCAAAATGCACAGCA	0.398													T	27393907	A	T	27393907	3	4	128	1	0	0	0	0	1	0	0	0	8756	14	1	5	1449	5	LGR4	11	27393907	Missense_Mutation	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08	673901	27393907	107612609	144	75821											
OR4A5	81318	broad.mit.edu	37	chr11	51412296	51412296	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttccccaccactgtcaccaAgtatgtgagtaaaaacatga	7	11	1	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr11:51412296A>C	uc001nhi.1	-	1	100	c.100T>G	c.(100-102)TTG>GTG	p.L34V		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	34	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				ACTGTCACCAAGTATGTGAGT	0.423													C	51412296	A	C	51412296	3	2	128	1	0	0	0	0	1	0	0	0	11043	69	3	5	851	5	OR4A5	11	51412296	Missense_Mutation	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08	24018389	51412296	83594220	145	75822											
OR5D18	219438	broad.mit.edu	37	chr11	55587542	55587542	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaactctgcgtgctgctggTtgtgggatcctatgcctggg	15	9	1	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr11:55587542T>G	uc010rin.1	+	1	437	c.437T>G	c.(436-438)GTT>GGT	p.V146G		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	146	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				GTGCTGCTGGTTGTGGGATCC	0.463													G	55587542	T	G	55587542	3	3	128	1	0	0	0	0	1	0	0	0	11157	1725	60	5	439	5	OR5D18	11	55587542	Missense_Mutation	SNP	T	TCGA-BR-A4PE-01A-31D-A25D-08	4175246	55587542	79418974	146	75823											
ODZ4	26011	broad.mit.edu	37	chr11	78381536	78381536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcgtcacagaagagaggcGgtcattcttgtcgaactcaa	10	10	4	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr11:78381536G>A	uc001ozl.3	-	32	6317	c.5854C>T	c.(5854-5856)CGC>TGC	p.R1952C	ODZ4_uc001ozk.3_Missense_Mutation_p.R177C|ODZ4_uc009yvb.1_Missense_Mutation_p.R536C	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1952	YD 7.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GAAGAGAGGCGGTCATTCTTG	0.542													A	78381536	G	A	78381536	3	1	128	1	0	0	0	0	1	0	0	0	10837	1116	39	1	2467	1	ODZ4	11	78381536	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	22793994	78381536	56624980	147	75824											
FAT3	120114	broad.mit.edu	37	chr11	92088390	92088390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggatgtcaatgaaaacCtccacactccctatttccca	6	13	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr11:92088390C>T	uc001pdj.3	+	1	3129	c.3112C>T	c.(3112-3114)CTC>TTC	p.L1038F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1038	Cadherin 9.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAATGAAAACCTCCACACTCC	0.483										TCGA Ovarian(4;0.039)			T	92088390	C	T	92088390	3	4	128	1	0	0	0	0	1	0	0	0	5691	681	24	4	3114	4	FAT3	11	92088390	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	13706854	92088390	42918126	148	75825											
NLRX1	79671	broad.mit.edu	37	chr11	119044606	119044606	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccctgtgccaacttgtGgcccagcgctacacgcccct	9	19	0	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr11:119044606G>A	uc001pvu.2	+	5	863	c.648G>A	c.(646-648)GTG>GTA	p.V216V	NLRX1_uc010rzc.1_Silent_p.V38V|NLRX1_uc001pvv.2_Silent_p.V216V|NLRX1_uc001pvw.2_Silent_p.V216V|NLRX1_uc001pvx.2_Silent_p.V216V	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	216	Required for interaction with MAVS.|NACHT.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCCAACTTGTGGCCCAGCGCT	0.637													A	119044606	G	A	119044606	2	1	128	1	0	0	0	0	0	0	0	1	10485	1335	47	4		4	NLRX1	11	119044606	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	26956216	119044606	15961910	149	75826											
TECTA	7007	broad.mit.edu	37	chr11	121023647	121023647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgagtgtctgccagccccGctgcgccgccatccgcctga	12	18	1	2	rs150016625	byFrequency	TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr11:121023647G>A	uc010rzo.1	+	12	4163	c.4163G>A	c.(4162-4164)CGC>CAC	p.R1388H		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1388	TIL 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGCCAGCCCCGCTGCGCCGCC	0.607													A	121023647	G	A	121023647	3	1	128	1	0	0	0	0	1	0	0	0	15744	1087	38	1	4209	1	TECTA	11	121023647	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	1979041	121023647	13982869	150	75827											
PRB2	653247	broad.mit.edu	37	chr12	11546745	11546745	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggaggtgggggaccttgAggtttgttgcctccttgtgg	17	8	0	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:11546745A>C	uc010shk.1	-	3	302	c.267T>G	c.(265-267)CCT>CCG	p.P89P		NM_006248	NP_006239			proline-rich protein BstNI subfamily 2												0		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGACCTTGAGGTTTGTTGC	0.617													C	11546745	A	C	11546745	2	2	128	1	0	0	0	0	0	0	0	1	12443	291	11	5		5	PRB2	12	11546745	Silent	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08		11546745	122305150	151	75828											
EMP1	2012	broad.mit.edu	37	chr12	13366432	13366432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctggttggtttccaataCggtagatgcatcagtaggtc	13	7	2	1	rs148486500		TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:13366432C>T	uc001rbr.2	+	3	345	c.98C>T	c.(97-99)ACG>ATG	p.T33M	EMP1_uc009zhy.2_Intron|EMP1_uc010shr.1_Missense_Mutation_p.T33M	NM_001423	NP_001414	P54849	EMP1_HUMAN	epithelial membrane protein 1	33					cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction					0		Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		GTTTCCAATACGGTAGATGCA	0.388													T	13366432	C	T	13366432	3	4	128	1	0	0	0	0	1	0	0	0	5101	536	19	1	104	1	EMP1	12	13366432	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	1819687	13366432	120485463	152	75829											
ATF7IP	55729	broad.mit.edu	37	chr12	14613718	14613718	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccatctggcaatgttgaattCatttctgtgcaaagcccacc	7	12	3	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:14613718C>A	uc001rbw.2	+	9	2606	c.2448C>A	c.(2446-2448)TTC>TTA	p.F816L	ATF7IP_uc010shs.1_3'UTR|ATF7IP_uc001rbu.2_Missense_Mutation_p.F816L|ATF7IP_uc001rbv.1_Missense_Mutation_p.F815L|ATF7IP_uc001rbx.2_Missense_Mutation_p.F815L|ATF7IP_uc010sht.1_3'UTR|ATF7IP_uc001rby.3_Missense_Mutation_p.F816L|ATF7IP_uc001rca.2_Missense_Mutation_p.F816L	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	816	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						ATGTTGAATTCATTTCTGTGC	0.458													A	14613718	C	A	14613718	3	1	128	1	0	0	0	0	1	0	0	0	1087	825	29	5	2478	5	ATF7IP	12	14613718	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	1247286	14613718	119238177	153	75830											
LDHB	3945	broad.mit.edu	37	chr12	21807507	21807507	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgctgatagcacacgccatAccaacttgtccaacacccac	5	16	0	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:21807507A>T	uc001rfc.2	-	1	117	c.99T>A	c.(97-99)GGT>GGA	p.G33G	LDHB_uc001rfd.2_Silent_p.G33G|LDHB_uc001rfe.2_Silent_p.G33G	NM_002300	NP_002291	P07195	LDHB_HUMAN	L-lactate dehydrogenase B	33	NAD (By similarity).				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|ovary(1)	3					NADH(DB00157)	CACACGCCATACCAACTTGTC	0.428													T	21807507	A	T	21807507	2	4	128	1	0	0	0	0	0	0	0	1	8701	378	14	5		5	LDHB	12	21807507	Silent	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08	7193789	21807507	112044388	154	75831											
IFLTD1	160492	broad.mit.edu	37	chr12	25702400	25702400	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cactggaatttgaagatgacAatggcagtgttgtggcaact	12	6	0	3			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:25702400A>C	uc001rgs.2	-	2	257	c.107T>G	c.(106-108)TTG>TGG	p.L36W	IFLTD1_uc001rgt.1_Translation_Start_Site|IFLTD1_uc010sji.1_Missense_Mutation_p.L57W|IFLTD1_uc010sjj.1_Intron|IFLTD1_uc009zjc.2_Missense_Mutation_p.L57W	NM_152590	NP_689803	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	36						intermediate filament	structural molecule activity			ovary(2)|central_nervous_system(1)	3	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TGAAGATGACAATGGCAGTGT	0.358													C	25702400	A	C	25702400	3	2	128	1	0	0	0	0	1	0	0	0	7530	131	5	5	1087	5	IFLTD1	12	25702400	Missense_Mutation	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08	3894893	25702400	108149495	155	75832											
CNTN1	1272	broad.mit.edu	37	chr12	41386999	41386999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatggagtatgaattccgcGtggtagcaaccaatacactg	12	8	0	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:41386999G>A	uc001rmm.1	+	17	2154	c.2041G>A	c.(2041-2043)GTG>ATG	p.V681M	CNTN1_uc001rmn.1_Missense_Mutation_p.V670M	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	681	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGAATTCCGCGTGGTAGCAAC	0.388													A	41386999	G	A	41386999	3	1	128	1	0	0	0	0	1	0	0	0	3640	1145	40	1	2103	1	CNTN1	12	41386999	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	15684599	41386999	92464896	156	75833											
KRT74	121391	broad.mit.edu	37	chr12	52967407	52967407	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacgccgattccctccaaggCtatagaggctccgactgcca	9	15	0	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:52967407C>A	uc001sap.1	-	1	203	c.155G>T	c.(154-156)AGC>ATC	p.S52I		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	keratin 6 irs4	52	Head.|Gly-rich.					keratin filament	structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.191)		CCCTCCAAGGCTATAGAGGCT	0.622													A	52967407	C	A	52967407	3	1	128	1	0	0	0	0	1	0	0	0	8487	797	28	5	1470	5	KRT74	12	52967407	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	11580408	52967407	80884488	157	75834											
HOXC4	3221	broad.mit.edu	37	chr12	54447817	54447817	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacacagtccggaatattaCggccggaccagggaatcggg	14	10	0	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:54447817C>T	uc001seu.2	+	3	791	c.111C>T	c.(109-111)TAC>TAT	p.Y37Y	HOXC4_uc001sex.2_Silent_p.Y37Y	NM_014620	NP_055435	P09017	HXC4_HUMAN	homeobox C4	37						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CGGAATATTACGGCCGGACCA	0.532													T	54447817	C	T	54447817	2	4	128	1	0	0	0	0	0	0	0	1	7313	547	19	1		1	HOXC4	12	54447817	Silent	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	1480410	54447817	79404078	158	75835											
NCKAP1L	3071	broad.mit.edu	37	chr12	54932722	54932722	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agactgacaagcttaaaaccAgaaatcgagaatccatttct	6	9	1	4			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:54932722A>C	uc001sgc.3	+	30	3317	c.3238A>C	c.(3238-3240)AGA>CGA	p.R1080R	NCKAP1L_uc010sox.1_Silent_p.R622R|NCKAP1L_uc010soy.1_Silent_p.R1030R	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1080					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						GCTTAAAACCAGAAATCGAGA	0.443													C	54932722	A	C	54932722	2	2	128	1	0	0	0	0	0	0	0	1	10222	180	7	5		5	NCKAP1L	12	54932722	Silent	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08	484905	54932722	78919173	159	75836											
TRHDE	29953	broad.mit.edu	37	chr12	72956687	72956687	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagaagtaatggatcagtggAcactccagatgggttatcct	11	7	1	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:72956687A>T	uc001sxa.2	+	9	1804	c.1774A>T	c.(1774-1776)ACA>TCA	p.T592S		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	592	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						GGATCAGTGGACACTCCAGAT	0.313													T	72956687	A	T	72956687	3	4	128	1	0	0	0	0	1	0	0	0	16476	275	10	5	1808	5	TRHDE	12	72956687	Missense_Mutation	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08	18023965	72956687	60895208	160	75837											
ANKS1B	56899	broad.mit.edu	37	chr12	100200244	100200244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgctttgtggccattgcGcgcagcaaggtgaagtggcg	16	9	0	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:100200244G>A	uc001tge.1	-	4	1024	c.607C>T	c.(607-609)CGC>TGC	p.R203C	ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.R203C	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	203	ANK 6.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGGCCATTGCGCGCAGCAAGG	0.493													A	100200244	G	A	100200244	3	1	128	1	0	0	0	0	1	0	0	0	689	1087	38	1	3519	1	ANKS1B	12	100200244	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	27243557	100200244	33651651	161	75838											
DAO	1610	broad.mit.edu	37	chr12	109278977	109278977	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaacaacccacaggaggcGtgagtgagggtcacataggg	14	11	1	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:109278977G>A	uc001tnr.3	+	2	347	c.194_splice	c.e2+1	p.A65_splice	DAO_uc001tnq.3_Splice_Site_p.A65_splice|DAO_uc009zvb.2_Splice_Site|DAO_uc001tns.3_Splice_Site	NM_001917	NP_001908	P14920	OXDA_HUMAN	D-amino-acid oxidase						glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			ovary(1)|skin(1)	2						CACAGGAGGCGTGAGTGAGGG	0.612													A	109278977	G	A	109278977	5	1	128	1	0	0	0	0	0	0	1	0	4231	1159	40	1	197	1	DAO	12	109278977	Splice_Site	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	9078733	109278977	24572918	162	75839											
TPCN1	53373	broad.mit.edu	37	chr12	113706632	113706632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggtgacccgagcactgcGctgcattttcctggtggact	14	12	0	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:113706632G>A	uc001tuw.2	+	6	911	c.614G>A	c.(613-615)CGC>CAC	p.R205H	TPCN1_uc001tux.2_Missense_Mutation_p.R277H|TPCN1_uc010syt.1_Missense_Mutation_p.R137H	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1 isoform 2	205	Helical; Name=S4 of repeat I; (Potential).					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			skin(2)|ovary(1)	3						CGAGCACTGCGCTGCATTTTC	0.642													A	113706632	G	A	113706632	3	1	128	1	0	0	0	0	1	0	0	0	16392	1087	38	1	852	1	TPCN1	12	113706632	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	4427655	113706632	20145263	163	75840											
DCLK1	9201	broad.mit.edu	37	chr13	36428642	36428643	+	Frame_Shift_Ins	INS	-	-	CC													cttatttccttaccctctgcINSttccgcaggcttcctgggct							TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr13:36428641_36428642G>GCC	uc001uvf.3	-	5	1312_1313	c.1029_1030C>GGC	c.(1027-1032)aagcagfs	p.K343fs	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Frame_Shift_Ins_p.K36fs|DCLK1_uc010teh.2_Frame_Shift_Ins_p.K36fs|DCLK1_uc010abk.3_Frame_Shift_Ins_p.K36fs|DCLK1_uc001uvh.4_Frame_Shift_Ins_p.K36fs	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	343					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.R342W(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTTACCCTCTGCTTCCGCAGGC	0.55													CC	36428643	-	CC	36428642	7	5	128	1	0	1	1	0	0	0	0	0	4291	796	28	0	1212	0	DCLK1	13	36428642	Frame_Shift_Ins	INS	-	TCGA-BR-A4PE-01A-31D-A25D-08		36428642	78741236	164	75841											
MLNR	2862	broad.mit.edu	37	chr13	49795146	49795146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgtcggggcccgagaccGcggaggccgcggcgctgttc	18	16	0	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr13:49795146G>A	uc010tgj.1	+	1	673	c.673G>A	c.(673-675)GCG>ACG	p.A225T		NM_001507	NP_001498	O43193	MTLR_HUMAN	motilin receptor	225	Extracellular (Potential).				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity				0		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		GCCCGAGACCGCGGAGGCCGC	0.751													A	49795146	G	A	49795146	3	1	128	1	0	0	0	0	1	0	0	0	9632	1087	38	1	675	1	MLNR	13	49795146	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	13366504	49795146	65374732	165	75842											
DZIP1	22873	broad.mit.edu	37	chr13	96237002	96237002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaaaccttctccctttgGccccttaggattaaatgcgc	7	14	1	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr13:96237002G>A	uc001vmk.2	-	22	3364	c.2512C>T	c.(2512-2514)CCA>TCA	p.P838S	DZIP1_uc001vmi.2_Missense_Mutation_p.P86S|DZIP1_uc001vmj.2_Missense_Mutation_p.P314S|DZIP1_uc001vml.2_Missense_Mutation_p.P819S|DZIP1_uc001vmm.2_5'Flank	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	838					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCTCCCTTTGGCCCCTTAGGA	0.393													A	96237002	G	A	96237002	3	1	128	1	0	0	0	0	1	0	0	0	4863	1203	42	2	99	2	DZIP1	13	96237002	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	46441856	96237002	18932876	166	75843											
NALCN	259232	broad.mit.edu	37	chr13	101759837	101759837	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaaatgaagtgtacttaCgcgttgaagcgtgctcggac	13	8	0	3			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr13:101759837C>T	uc001vox.1	-	22	2768	c.2579_splice	c.e22+1	p.A860_splice		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1							integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGTGTACTTACGCGTTGAAGC	0.502													T	101759837	C	T	101759837	5	4	128	1	0	0	0	0	0	0	1	0	10148	550	19	1	2728	1	NALCN	13	101759837	Splice_Site	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	5522835	101759837	13410041	167	75844											
COL4A1	1282	broad.mit.edu	37	chr13	110804813	110804813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcaggagccgggggacGccagggcttggccagagcct	18	13	0	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr13:110804813G>A	uc001vqw.3	-	51	4918	c.4796C>T	c.(4795-4797)GCG>GTG	p.A1599V	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1599	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCCGGGGGACGCCAGGGCTTG	0.587													A	110804813	G	A	110804813	3	1	128	1	0	0	0	0	1	0	0	0	3689	1087	38	1	221	1	COL4A1	13	110804813	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	9044976	110804813	4365065	168	75845											
SOS2	6655	broad.mit.edu	37	chr14	50628209	50628209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggaattacccaggtcgaCgtctaggtgaatactgcttg	11	8	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr14:50628209C>T	uc001wxs.3	-	9	1285	c.1187G>A	c.(1186-1188)CGT>CAT	p.R396H	SOS2_uc010tql.1_Missense_Mutation_p.R363H|SOS2_uc010tqm.1_RNA|SOS2_uc001wxt.2_Missense_Mutation_p.R84H	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	396					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					CCCAGGTCGACGTCTAGGTGA	0.418													T	50628209	C	T	50628209	3	4	128	1	0	0	0	0	1	0	0	0	14937	536	19	1	2871	1	SOS2	14	50628209	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08		50628209	56721331	169	75846											
KCNH5	27133	broad.mit.edu	37	chr14	63447746	63447746	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtcgtgtgaaaatttaaaacGatgtcaaccagaaaaataac	7	6	1	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr14:63447746G>T	uc001xfx.2	-	6	837	c.786C>A	c.(784-786)ATC>ATA	p.I262I	KCNH5_uc001xfy.2_Silent_p.I262I|KCNH5_uc001xfz.1_Silent_p.I204I|KCNH5_uc001xga.2_Silent_p.I204I	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	262	Helical; Name=Segment S2; (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AATTTAAAACGATGTCAACCA	0.423													T	63447746	G	T	63447746	2	4	128	1	0	0	0	0	0	0	0	1	8035	1048	37	5		5	KCNH5	14	63447746	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	12819537	63447746	43901794	170	75847											
PLEKHG3	26030	broad.mit.edu	37	chr14	65197573	65197573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcaggccaagttctttcGggaccggcaggagctgctac	14	12	1	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr14:65197573G>A	uc001xho.1	+	6	892	c.623G>A	c.(622-624)CGG>CAG	p.R208Q	PLEKHG3_uc001xhn.1_Missense_Mutation_p.R152Q|PLEKHG3_uc001xhp.2_Missense_Mutation_p.R208Q|PLEKHG3_uc010aqh.1_5'UTR	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	208	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AAGTTCTTTCGGGACCGGCAG	0.647													A	65197573	G	A	65197573	3	1	128	1	0	0	0	0	1	0	0	0	12070	1116	39	1	465	1	PLEKHG3	14	65197573	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	1749827	65197573	42151967	171	75848											
SIPA1L1	26037	broad.mit.edu	37	chr14	72055143	72055143	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccataagtgaacttgatgTggatagctttgatgaatgta	10	5	0	4			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr14:72055143T>A	uc001xms.2	+	2	902	c.554T>A	c.(553-555)GTG>GAG	p.V185E	SIPA1L1_uc001xmt.2_Missense_Mutation_p.V185E|SIPA1L1_uc001xmu.2_Missense_Mutation_p.V185E|SIPA1L1_uc001xmv.2_Missense_Mutation_p.V185E	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	185					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAACTTGATGTGGATAGCTTT	0.448													A	72055143	T	A	72055143	3	1	128	1	0	0	0	0	1	0	0	0	14329	1696	59	5	556	5	SIPA1L1	14	72055143	Missense_Mutation	SNP	T	TCGA-BR-A4PE-01A-31D-A25D-08	6857570	72055143	35294397	172	75849											
C14orf174	161394	broad.mit.edu	37	chr14	77844277	77844277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaccatgtctgaggtttcGggggccacagtcagagagag	15	8	2	3			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr14:77844277G>A	uc001xtq.1	+	1	516	c.516G>A	c.(514-516)TCG>TCA	p.S172S	TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	hypothetical protein LOC161394	172											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)		CTGAGGTTTCGGGGGCCACAG	0.483													A	77844277	G	A	77844277	2	1	128	1	0	0	0	0	0	0	0	1	1759	1103	39	1		1	C14orf174	14	77844277	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	5789134	77844277	29505263	173	75850											
FLRT2	23768	broad.mit.edu	37	chr14	86088325	86088325	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtggaagacggggccttccGggaggctattagcctcaaat	15	9	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr14:86088325G>T	uc001xvr.2	+	2	1234	c.467G>T	c.(466-468)CGG>CTG	p.R156L	FLRT2_uc010atd.2_Missense_Mutation_p.R156L	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	156	Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GGGGCCTTCCGGGAGGCTATT	0.522													T	86088325	G	T	86088325	3	4	128	1	0	0	0	0	1	0	0	0	5939	1116	39	5	469	5	FLRT2	14	86088325	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	8244048	86088325	21261215	174	75851											
TRAF3	7187	broad.mit.edu	37	chr14	103371673	103371673	+	Frame_Shift_Del	DEL	G	G	-													ctacaatggagtgctcatctGgaagattcgcgactacaagc							TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr14:103371672_103371672TG>T	uc001ymc.2	+	11	1611	c.1258_1258TG>T	c.(1258-1260)tggfs	p.W420fs	TRAF3_uc001ymd.2_Frame_Shift_Del_p.W420fs|TRAF3_uc001yme.2_Frame_Shift_Del_p.W395fs|TRAF3_uc010txy.2_Frame_Shift_Del_p.W337fs	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	Homo sapiens TNF receptor-associated factor 3 (TRAF3), transcript variant 1, mRNA.	420	MATH.				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AGTGCTCATCTGGAAGATTCG	0.572													-	103371673	G	-	103371673	7	5	128	1	0	1	0	1	0	0	0	0	16436	1357	47	0	1297	0	TRAF3	14	103371673	Frame_Shift_Del	DEL	G	TCGA-BR-A4PE-01A-31D-A25D-08	17283348	103371673	3977867	175	75852											
ATP10A	57194	broad.mit.edu	37	chr15	25959366	25959366	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatcgtcttcaccggggacTtcagctcaaacctcaccctc	6	17	5	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr15:25959366T>G	uc010ayu.2	-	10	1905	c.1799A>C	c.(1798-1800)AAG>ACG	p.K600T		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	600	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CACCGGGGACTTCAGCTCAAA	0.602													G	25959366	T	G	25959366	3	3	128	1	0	0	0	0	1	0	0	0	1116	1609	56	5	2748	5	ATP10A	15	25959366	Missense_Mutation	SNP	T	TCGA-BR-A4PE-01A-31D-A25D-08		25959366	76572026	176	75853											
RYR3	6263	broad.mit.edu	37	chr15	33855184	33855184	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcacaagacgccaaaacTtcccgcctgggacctctaaa	7	14	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr15:33855184T>G	uc001zhi.2	+	11	1189	c.1119T>G	c.(1117-1119)ACT>ACG	p.T373T	RYR3_uc010bar.2_Silent_p.T373T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	373	Cytoplasmic (By similarity).|MIR 5.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACGCCAAAACTTCCCGCCTGG	0.453													G	33855184	T	G	33855184	2	3	128	1	0	0	0	0	0	0	0	1	13770	1596	56	5		5	RYR3	15	33855184	Silent	SNP	T	TCGA-BR-A4PE-01A-31D-A25D-08	7895818	33855184	68676208	177	75854											
RYR3	6263	broad.mit.edu	37	chr15	33925173	33925173	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgatgtccaacggctataAgccagcccctttggatttgt	9	10	0	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr15:33925173A>G	uc001zhi.2	+	24	2961	c.2891A>G	c.(2890-2892)AAG>AGG	p.K964R	RYR3_uc010bar.2_Missense_Mutation_p.K964R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	964	2.|4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AACGGCTATAAGCCAGCCCCT	0.388													G	33925173	A	G	33925173	3	3	128	1	0	0	0	0	1	0	0	0	13770	72	3	3	2985	3	RYR3	15	33925173	Missense_Mutation	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08	69989	33925173	68606219	178	75855											
TMC3	342125	broad.mit.edu	37	chr15	81625267	81625267	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggggagggaggctggcggggGacccgggatgcatattgtcg	22	7	0	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr15:81625267G>T	uc002bgo.1	-	22	2796	c.2796C>A	c.(2794-2796)GTC>GTA	p.V932V	TMC3_uc010blr.1_RNA	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	932	Cytoplasmic (Potential).					integral to membrane				ovary(1)|liver(1)	2						GCTGGCGGGGGACCCGGGATG	0.542													T	81625267	G	T	81625267	2	4	128	1	0	0	0	0	0	0	0	1	15983	1161	41	5		5	TMC3	15	81625267	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	47700094	81625267	20906125	179	75856											
CLCN7	1186	broad.mit.edu	37	chr16	1500502	1500502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccggccccactcaccgccGcccccgtgaggtaggacagg	12	19	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr16:1500502G>A	uc002clv.2	-	17	1723	c.1613C>T	c.(1612-1614)GCG>GTG	p.A538V	CLCN7_uc010brq.1_5'Flank|CLCN7_uc002clu.2_5'Flank|CLCN7_uc002clw.2_Missense_Mutation_p.A514V	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	538						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)				ACTCACCGCCGCCCCCGTGAG	0.697													A	1500502	G	A	1500502	3	1	128	1	0	0	0	0	1	0	0	0	3468	1087	38	1	840	1	CLCN7	16	1500502	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08		1500502	88854251	180	75857											
HS3ST6	64711	broad.mit.edu	37	chr16	1961987	1961987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtccacggggcccaggccGtggcggaaggccagggcgcg	20	13	0	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr16:1961987G>A	uc002cnf.2	-	2	540	c.540C>T	c.(538-540)CAC>CAT	p.H180H		NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine)	180											0						GGCCCAGGCCGTGGCGGAAGG	0.716													A	1961987	G	A	1961987	2	1	128	1	0	0	0	0	0	0	0	1	7369	1136	40	1		1	HS3ST6	16	1961987	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	461485	1961987	88392766	181	75858											
THOC6	79228	broad.mit.edu	37	chr16	3076271	3076271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgtaaggagctgtggcGtcgtcagcctccatacaggt	15	10	1	0	rs142007174	byFrequency	TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr16:3076271G>A	uc002ctb.2	+	5	640	c.344G>A	c.(343-345)CGT>CAT	p.R115H	HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Missense_Mutation_p.R115H|THOC6_uc002ctc.2_Missense_Mutation_p.R91H|THOC6_uc002cta.2_Missense_Mutation_p.R91H	NM_024339	NP_077315	Q86W42	THOC6_HUMAN	WD repeat domain 58 isoform 1	115					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			ovary(1)|central_nervous_system(1)	2						GAGCTGTGGCGTCGTCAGCCT	0.577													A	3076271	G	A	3076271	3	1	128	1	0	0	0	0	1	0	0	0	15866	1145	40	1	362	1	THOC6	16	3076271	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	1114284	3076271	87278482	182	75859											
C16orf89	146556	broad.mit.edu	37	chr16	5112558	5112558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgggcccacttctcccGgacactttttagctgctctg	8	16	2	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr16:5112558G>A	uc010bud.2	-	2	428	c.340C>T	c.(340-342)CGG>TGG	p.R114W	ALG1_uc002cyj.2_Intron|C16orf89_uc002cyk.3_Missense_Mutation_p.R114W	NM_152459	NP_689672	Q6UX73	CP089_HUMAN	hypothetical protein LOC146556 isoform 1	76						extracellular region				ovary(1)|skin(1)	2						CACTTCTCCCGGACACTTTTT	0.537													A	5112558	G	A	5112558	3	1	128	1	0	0	0	0	1	0	0	0	1842	1115	39	1	1145	1	C16orf89	16	5112558	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	2036287	5112558	85242195	183	75860											
C16orf72	29035	broad.mit.edu	37	chr16	9210632	9210632	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaggagaaatggactccatGatgtcgatttgaacactttc	10	7	0	3			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr16:9210632G>T	uc002czm.2	+	4	1056	c.691G>T	c.(691-693)GAT>TAT	p.D231Y		NM_014117	NP_054836	Q14CZ0	CP072_HUMAN	hypothetical protein LOC29035	231										large_intestine(1)	1						TGGACTCCATGATGTCGATTT	0.478													T	9210632	G	T	9210632	3	4	128	1	0	0	0	0	1	0	0	0	1831	1290	45	5	705	5	C16orf72	16	9210632	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	4098074	9210632	81144121	184	75861											
ITGAL	3683	broad.mit.edu	37	chr16	30506112	30506112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagctgctgctgattggtGccccactgttctatggggag	14	10	1	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr16:30506112G>A	uc002dyi.3	+	13	1620	c.1444G>A	c.(1444-1446)GCC>ACC	p.A482T	ITGAL_uc002dyj.3_Missense_Mutation_p.A399T|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	482	FG-GAP 5.|Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	GCTGATTGGTGCCCCACTGTT	0.587													A	30506112	G	A	30506112	3	1	128	1	0	0	0	0	1	0	0	0	7886	1319	46	2	1494	2	ITGAL	16	30506112	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	21295480	30506112	59848641	185	75862											
NKD1	85407	broad.mit.edu	37	chr16	50667336	50667336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtcccccaaggcccagGgcaagagtgtgggtgtgggc	18	10	0	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr16:50667336G>A	uc002egg.1	+	10	1281	c.1057G>A	c.(1057-1059)GGC>AGC	p.G353S		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	naked cuticle homolog 1	353					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding				0		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CAAGGCCCAGGGCAAGAGTGT	0.672													A	50667336	G	A	50667336	3	1	128	1	0	0	0	0	1	0	0	0	10441	1232	43	4	1095	4	NKD1	16	50667336	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	20161224	50667336	39687417	186	75863											
CCDC135	84229	broad.mit.edu	37	chr16	57756726	57756726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagcaatggccttgtgagcCgcctcaccacctatgaggac	10	13	1	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr16:57756726C>T	uc002emi.2	+	10	1470	c.1381C>T	c.(1381-1383)CGC>TGC	p.R461C	CCDC135_uc002emj.2_Missense_Mutation_p.R461C|CCDC135_uc002emk.2_Missense_Mutation_p.R396C	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	461						cytoplasm				central_nervous_system(1)	1						CCTTGTGAGCCGCCTCACCAC	0.597													T	57756726	C	T	57756726	3	4	128	1	0	0	0	0	1	0	0	0	2769	652	23	1	1415	1	CCDC135	16	57756726	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	7089390	57756726	32598027	187	75864											
CDH8	1006	broad.mit.edu	37	chr16	62055298	62055298	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagagcatttccgctagccGttctggcatggtcccaccag	10	14	1	1	rs139797882		TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr16:62055298G>T	uc002eog.1	-	2	262	c.10C>A	c.(10-12)CGG>AGG	p.R4R		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	4					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCCGCTAGCCGTTCTGGCATG	0.443													T	62055298	G	T	62055298	2	4	128	1	0	0	0	0	0	0	0	1	3116	1144	40	5		5	CDH8	16	62055298	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	4298572	62055298	28299455	188	75865											
CES2	8824	broad.mit.edu	37	chr16	66974528	66974528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcccaaggactcttccacgGagccatcatggagagtggcg	12	12	2	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr16:66974528G>A	uc002eqr.2	+	5	1938	c.938G>A	c.(937-939)GGA>GAA	p.G313E	CES2_uc002eqq.2_Missense_Mutation_p.G313E|CES2_uc002eqs.2_Missense_Mutation_p.G156E	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	249					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CTCTTCCACGGAGCCATCATG	0.607													A	66974528	G	A	66974528	3	1	128	1	0	0	0	0	1	0	0	0	3270	1174	41	4	956	4	CES2	16	66974528	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	4919230	66974528	23380225	189	75866											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67860070	67860070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagatgtggtggctggggGcccagagcgctggcagatgc	19	9	0	3			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr16:67860070G>A	uc002euj.2	+	10	1392	c.998G>A	c.(997-999)GGC>GAC	p.G333D	TSNAXIP1_uc010cep.2_3'UTR|TSNAXIP1_uc010vjz.1_Missense_Mutation_p.G210D|TSNAXIP1_uc002euf.3_Missense_Mutation_p.G66D|TSNAXIP1_uc010vka.1_Missense_Mutation_p.G387D|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.G318D|TSNAXIP1_uc002eug.3_Missense_Mutation_p.G41D|TSNAXIP1_uc002euh.3_Missense_Mutation_p.G41D|TSNAXIP1_uc002eui.3_Missense_Mutation_p.G41D|TSNAXIP1_uc002euk.2_Missense_Mutation_p.G66D	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	333					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GTGGCTGGGGGCCCAGAGCGC	0.642													A	67860070	G	A	67860070	3	1	128	1	0	0	0	0	1	0	0	0	16629	1203	42	2	1028	2	TSNAXIP1	16	67860070	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	885542	67860070	22494683	190	75867											
CDH13	1012	broad.mit.edu	37	chr16	83781732	83781732	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtattctgtttacaaggacCcagcaggttggctgaatatt	11	7	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr16:83781732C>A	uc002fgx.2	+	11	1678	c.1558C>A	c.(1558-1560)CCA>ACA	p.P520T	CDH13_uc010vns.1_Missense_Mutation_p.P567T|CDH13_uc010vnt.1_Missense_Mutation_p.P266T|CDH13_uc010vnu.1_Missense_Mutation_p.P481T	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	520	Cadherin 4.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TTACAAGGACCCAGCAGGTTG	0.473													A	83781732	C	A	83781732	3	1	128	1	0	0	0	0	1	0	0	0	3099	623	22	5	1600	5	CDH13	16	83781732	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	15921662	83781732	6573021	191	75868											
ALOX15	246	broad.mit.edu	37	chr17	4540419	4540419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcctctcacctggatgacCatgggcaagagtttcccatc	9	13	1	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr17:4540419C>T	uc002fyh.2	-	7	956	c.942G>A	c.(940-942)ATG>ATA	p.M314I	ALOX15_uc010vsd.1_Missense_Mutation_p.M275I|ALOX15_uc010vse.1_Missense_Mutation_p.M336I	NM_001140	NP_001131	P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	314	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			skin(3)|ovary(1)|lung(1)	5				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CCTGGATGACCATGGGCAAGA	0.517													T	4540419	C	T	4540419	3	4	128	1	0	0	0	0	1	0	0	0	538	594	21	4	1078	4	ALOX15	17	4540419	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08		4540419	76654791	192	75869											
TP53	7157	broad.mit.edu	37	chr17	7578524	7578524	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agggcaggtcttggccagttGgcaaaacatcttgttgaggg	15	7	2	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr17:7578524G>C	uc002gim.2	-	5	600	c.406C>G	c.(406-408)CAA>GAA	p.Q136E	TP53_uc002gig.1_Missense_Mutation_p.Q136E|TP53_uc002gih.2_Missense_Mutation_p.Q136E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Q4E|TP53_uc010cng.1_Missense_Mutation_p.Q4E|TP53_uc002gii.1_Missense_Mutation_p.Q4E|TP53_uc010cnh.1_Missense_Mutation_p.Q136E|TP53_uc010cni.1_Missense_Mutation_p.Q136E|TP53_uc002gij.2_Missense_Mutation_p.Q136E|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Q43E|TP53_uc002gio.2_Missense_Mutation_p.Q4E|TP53_uc010vug.1_Missense_Mutation_p.Q97E	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	136	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> E (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q136*(28)|p.0?(7)|p.Q136H(5)|p.Q136Q(4)|p.Q136P(3)|p.Q136E(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.Q136R(2)|p.Q136fs*34(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.Q136K(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.Q136_K139delQLAK(1)|p.C135_Q136insX(1)|p.C135_Q136insXXXXXX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTGGCCAGTTGGCAAAACATC	0.562		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C	7578524	G	C	7578524	3	2	128	1	0	0	0	0	1	0	0	0	16378	1357	47	5	892	5	TP53	17	7578524	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	3038105	7578524	73616686	193	75870											
ACACA	31	broad.mit.edu	37	chr17	35545334	35545334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagttggcgtcaggcgaatGttgattttcagttctgcctg	12	9	3	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr17:35545334G>A	uc002hnm.2	-	39	4739	c.4548C>T	c.(4546-4548)AAC>AAT	p.N1516N	ACACA_uc002hnk.2_Silent_p.N1438N|ACACA_uc002hnl.2_Silent_p.N1458N|ACACA_uc002hnn.2_Silent_p.N1516N|ACACA_uc002hno.2_Silent_p.N1553N|ACACA_uc010cuy.2_Silent_p.N210N	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1516					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCAGGCGAATGTTGATTTTCA	0.498													A	35545334	G	A	35545334	2	1	128	1	0	0	0	0	0	0	0	1	106	1368	48	4		4	ACACA	17	35545334	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	27966810	35545334	45649876	194	75871											
TTC25	83538	broad.mit.edu	37	chr17	40093094	40093094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagcccaagtggaaggcctCgctcaagagtgagaagactg	14	9	1	4			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr17:40093094C>T	uc002hyj.3	+	5	628	c.539C>T	c.(538-540)TCG>TTG	p.S180L	TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Missense_Mutation_p.S180L	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25	180						cytoplasm	protein binding			ovary(1)	1		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TGGAAGGCCTCGCTCAAGAGT	0.512													T	40093094	C	T	40093094	3	4	128	1	0	0	0	0	1	0	0	0	16690	893	31	1	557	1	TTC25	17	40093094	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	4547760	40093094	41102116	195	75872											
ABCA8	10351	broad.mit.edu	37	chr17	66873741	66873741	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgcctcactgtcaggTtgggccacagcgcgttctcc	13	14	3	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr17:66873741T>G	uc002jhp.2	-	31	4177	c.3998A>C	c.(3997-3999)AAC>ACC	p.N1333T	ABCA8_uc002jhq.2_Missense_Mutation_p.N1373T|ABCA8_uc010wqq.1_Missense_Mutation_p.N1368T	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	1333	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					CACTGTCAGGTTGGGCCACAG	0.602													G	66873741	T	G	66873741	3	3	128	1	0	0	0	0	1	0	0	0	38	1725	60	5	779	5	ABCA8	17	66873741	Missense_Mutation	SNP	T	TCGA-BR-A4PE-01A-31D-A25D-08	26780647	66873741	14321469	196	75873											
ABCA5	23461	broad.mit.edu	37	chr17	67257396	67257396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattgcaatacaagccaacGctgcctaaagaaaaaaataa	6	8	0	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr17:67257396G>A	uc002jif.2	-	25	4652	c.3434C>T	c.(3433-3435)GCG>GTG	p.A1145V	ABCA5_uc002jib.2_Missense_Mutation_p.A111V|ABCA5_uc002jic.2_Missense_Mutation_p.A368V|ABCA5_uc002jid.2_Missense_Mutation_p.A62V|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.A1145V	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	1145	Helical; (Potential).				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					ACAAGCCAACGCTGCCTAAAG	0.299													A	67257396	G	A	67257396	3	1	128	1	0	0	0	0	1	0	0	0	35	1087	38	1	1550	1	ABCA5	17	67257396	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	383655	67257396	13937814	197	75874											
SMCHD1	23347	broad.mit.edu	37	chr18	2705786	2705787	+	Frame_Shift_Ins	INS	-	-	T													gaagtatatgctacaggaggINSagaggttcaaattgcaatgg							TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr18:2705785_2705786G>GT	uc002klm.4	+	13	2125_2126	c.1936_1937G>GT	c.(1936-1938)ggafs	p.G646fs	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_5'Flank	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	646					chromosome organization		ATP binding	p.G646E(2)|p.G94E(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TGCTACAGGAGGAGAGGTTCAA	0.342													T	2705787	-	T	2705786	7	5	128	1	0	1	1	0	0	0	0	0	14788	1174	41	0	1991	0	SMCHD1	18	2705786	Frame_Shift_Ins	INS	-	TCGA-BR-A4PE-01A-31D-A25D-08		2705786	75371462	198	75875											
RALBP1	10928	broad.mit.edu	37	chr18	9513171	9513171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagtttcctggattgtaccGcactggcgagccctcacctc	9	14	1	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr18:9513171G>A	uc002kob.2	+	2	351	c.128G>A	c.(127-129)CGC>CAC	p.R43H	RALBP1_uc002koc.2_Missense_Mutation_p.R43H	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	43					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			central_nervous_system(1)	1						GGATTGTACCGCACTGGCGAG	0.542													A	9513171	G	A	9513171	3	1	128	1	0	0	0	0	1	0	0	0	13012	1087	38	1	130	1	RALBP1	18	9513171	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	6807385	9513171	68564077	199	75876											
RALBP1	10928	broad.mit.edu	37	chr18	9517284	9517284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatggcatgaagtgtgaagGcatctacagagtatcaggta	13	5	2	3			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr18:9517284G>A	uc002kob.2	+	3	909	c.686G>A	c.(685-687)GGC>GAC	p.G229D	RALBP1_uc002koc.2_Missense_Mutation_p.G229D	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	229	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			central_nervous_system(1)	1						AAGTGTGAAGGCATCTACAGA	0.403													A	9517284	G	A	9517284	3	1	128	1	0	0	0	0	1	0	0	0	13012	1203	42	2	692	2	RALBP1	18	9517284	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	4113	9517284	68559964	200	75877											
ASXL3	80816	broad.mit.edu	37	chr18	31323566	31323566	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatcgggagcaattaaagaaCatccctttgtgagttctgtt	9	7	1	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr18:31323566C>A	uc010dmg.1	+	12	3809	c.3754C>A	c.(3754-3756)CAT>AAT	p.H1252N	ASXL3_uc002kxq.2_Missense_Mutation_p.H959N	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1252	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						AATTAAAGAACATCCCTTTGT	0.368													A	31323566	C	A	31323566	3	1	128	1	0	0	0	0	1	0	0	0	1068	478	17	5	3800	5	ASXL3	18	31323566	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	21806282	31323566	46753682	201	75878											
NETO1	81832	broad.mit.edu	37	chr18	70451126	70451126	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attctgcatctcatagtccaAgaatcgtaagtaaatctata	5	8	3	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr18:70451126A>G	uc002lkw.2	-	7	939	c.655T>C	c.(655-657)TTG>CTG	p.L219L	NETO1_uc002lkx.1_Silent_p.L218L|NETO1_uc002lky.1_Silent_p.L219L	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	219	CUB 2.|Extracellular (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCATAGTCCAAGAATCGTAAG	0.338													G	70451126	A	G	70451126	2	3	128	1	0	0	0	0	0	0	0	1	10339	69	3	3		3	NETO1	18	70451126	Silent	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08	39127560	70451126	7626122	202	75879											
ZNF236	7776	broad.mit.edu	37	chr18	74607115	74607115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagtgcttccgcgccttcGccgtgaagagcacgctgaca	12	15	0	3			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr18:74607115G>A	uc002lmi.2	+	10	1756	c.1558G>A	c.(1558-1560)GCC>ACC	p.A520T	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	520	C2H2-type 11.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCGCGCCTTCGCCGTGAAGAG	0.622													A	74607115	G	A	74607115	3	1	128	1	0	0	0	0	1	0	0	0	17786	1087	38	1	1596	1	ZNF236	18	74607115	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	4155989	74607115	3470133	203	75880											
CD70	970	broad.mit.edu	37	chr19	6586225	6586225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggagagcagattcccaCggccagggtggtggggtggt	21	8	0	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:6586225C>T	uc002mfi.2	-	3	538	c.388G>A	c.(388-390)GTG>ATG	p.V130M	CD70_uc010xjf.1_Missense_Mutation_p.V130M	NM_001252	NP_001243	P32970	CD70_HUMAN	tumor necrosis factor ligand superfamily, member	130	Extracellular (Potential).				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding				0						CAGATTCCCACGGCCAGGGTG	0.637													T	6586225	C	T	6586225	3	4	128	1	0	0	0	0	1	0	0	0	3033	536	19	1	197	1	CD70	19	6586225	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08		6586225	52542758	204	75881											
MUC16	94025	broad.mit.edu	37	chr19	9064484	9064485	+	Frame_Shift_Ins	INS	-	-	A													ctgggtgtggaaatccctgaINSattactatagagtgggtttc							TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:9064483_9064484G>GA	uc002mkp.3	-	2	23166_23167	c.22962_22963C>TC	c.(22960-22965)attcagfs	p.I7654fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7656	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAATCCCTGAATTACTATAG	0.505													A	9064485	-	A	9064484	7	5	128	1	0	1	1	0	0	0	0	0	9973	242	9	0	20889	0	MUC16	19	9064484	Frame_Shift_Ins	INS	-	TCGA-BR-A4PE-01A-31D-A25D-08	2478259	9064484	50064499	205	75882											
MUC16	94025	broad.mit.edu	37	chr19	9087510	9087510	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttcccctgggacatcagaAgttagttccaatgtgctgct	11	10	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:9087510A>C	uc002mkp.2	-	1	4509	c.4305T>G	c.(4303-4305)ACT>ACG	p.T1435T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1435	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGACATCAGAAGTTAGTTCCA	0.507													C	9087510	A	C	9087510	2	2	128	1	0	0	0	0	0	0	0	1	9973	59	3	5		5	MUC16	19	9087510	Silent	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08	23026	9087510	50041473	206	75883											
COL5A3	50509	broad.mit.edu	37	chr19	10081312	10081312	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttaccctcttgccgggggGcccgggggcgccgggctccc	16	17	1	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:10081312G>T	uc002mmq.1	-	54	4008	c.3922C>A	c.(3922-3924)CCC>ACC	p.P1308T		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1308	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			TTgccggggggcccgggggcg	0.478													T	10081312	G	T	10081312	3	4	128	1	0	0	0	0	1	0	0	0	3698	1203	42	5	1371	5	COL5A3	19	10081312	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	993802	10081312	49047671	207	75884											
ZSWIM4	65249	broad.mit.edu	37	chr19	13919781	13919781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggggccagccagcagctgCgctccatgttcagcaaggtg	14	13	1	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:13919781C>T	uc002mxh.1	+	4	1033	c.844C>T	c.(844-846)CGC>TGC	p.R282C	ZSWIM4_uc010xng.1_Missense_Mutation_p.R88C	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	282							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCAGCAGCTGCGCTCCATGTT	0.597													T	13919781	C	T	13919781	3	4	128	1	0	0	0	0	1	0	0	0	18240	768	27	1	858	1	ZSWIM4	19	13919781	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	3838469	13919781	45209202	208	75885											
UPF1	5976	broad.mit.edu	37	chr19	18965495	18965495	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttccaggtggattttgtGtggaagtcgacctcctttga	11	8	0	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:18965495G>A	uc002nkg.2	+	9	1550	c.1275G>A	c.(1273-1275)GTG>GTA	p.V425V	UPF1_uc002nkf.2_Silent_p.V414V	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	425					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						TGGATTTTGTGTGGAAGTCGA	0.552													A	18965495	G	A	18965495	2	1	128	1	0	0	0	0	0	0	0	1	17000	1364	48	4		4	UPF1	19	18965495	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	5045714	18965495	40163488	209	75886											
SF4	57794	broad.mit.edu	37	chr19	19391068	19391068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactagacccacaggcttccCcttctcatagccgagcccct	6	19	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:19391068C>T	uc002nmh.2	-	9	1278	c.1276G>A	c.(1276-1278)GGG>AGG	p.G426R	SF4_uc002nmf.2_5'UTR|SF4_uc002nmg.2_5'UTR|SF4_uc002nmi.2_Missense_Mutation_p.G216R|SF4_uc002nmj.2_Missense_Mutation_p.G216R|SF4_uc002nme.2_5'UTR	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	splicing factor 4	426					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding				0						ACAGGCTTCCCCTTCTCATAG	0.607													T	19391068	C	T	19391068	3	4	128	1	0	0	0	0	1	0	0	0	14155	623	22	4	685	4	SF4	19	19391068	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	425573	19391068	39737915	210	75887											
TSHZ3	57616	broad.mit.edu	37	chr19	31769898	31769898	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accttctgggcgtcttccttCccttccatttccagcaagga	7	15	2	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:31769898C>T	uc002nsy.3	-	2	866	c.801G>A	c.(799-801)GGG>GGA	p.G267G		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	267					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					CGTCTTCCTTCCCTTCCATTT	0.527													T	31769898	C	T	31769898	2	4	128	1	0	0	0	0	0	0	0	1	16622	842	30	4		4	TSHZ3	19	31769898	Silent	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	12378830	31769898	27359085	211	75888											
SERTAD1	29950	broad.mit.edu	37	chr19	40929446	40929446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttccgcttcagacccttgCtcagcatctgcagagggcag	11	13	3	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:40929446C>T	uc002ont.3	-	2	167	c.8G>A	c.(7-9)AGC>AAC	p.S3N		NM_013376	NP_037508	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	3					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGACCCTTGCTCAGCATCtg	0.333													T	40929446	C	T	40929446	3	4	128	1	0	0	0	0	1	0	0	0	14120	797	28	2	706	2	SERTAD1	19	40929446	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	9159548	40929446	18199537	212	75889											
PNMAL2	57469	broad.mit.edu	37	chr19	46997623	46997623	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcggagggggtctcgcttgTctttctcgtcgctccagccc	13	14	3	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:46997623T>C	uc002pes.2	-	1	1547	c.1100A>G	c.(1099-1101)GAC>GGC	p.D367G	uc002peu.1_5'Flank	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	367										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GTCTCGCTTGTCTTTCTCGTC	0.627													C	46997623	T	C	46997623	3	2	128	1	0	0	0	0	1	0	0	0	12158	1667	58	3	811	3	PNMAL2	19	46997623	Missense_Mutation	SNP	T	TCGA-BR-A4PE-01A-31D-A25D-08	6068177	46997623	12131360	213	75890											
SYT3	84258	broad.mit.edu	37	chr19	51128454	51128454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgctccacgggcttgcGgggattggccagcatctctg	14	13	1	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:51128454G>A	uc002pst.2	-	7	2306	c.1672C>T	c.(1672-1674)CGC>TGC	p.R558C	SYT3_uc002psv.2_Missense_Mutation_p.R558C|SYT3_uc010ycd.1_Missense_Mutation_p.R558C	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	558	Cytoplasmic (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		ACGGGCTTGCGGGGATTGGCC	0.682													A	51128454	G	A	51128454	3	1	128	1	0	0	0	0	1	0	0	0	15472	1116	39	1	108	1	SYT3	19	51128454	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	4130831	51128454	8000529	214	75891											
ZNF765	91661	broad.mit.edu	37	chr19	53912160	53912160	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaagcctacagtttcaaatCaaaccttgaaatacatcaga	4	10	3	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:53912160C>T	uc010ydx.1	+	6	1679	c.1352C>T	c.(1351-1353)TCA>TTA	p.S451L	ZNF765_uc002qbm.2_Missense_Mutation_p.S451L|ZNF765_uc002qbn.2_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	451	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00379)		AGTTTCAAATCAAACCTTGAA	0.383													T	53912160	C	T	53912160	3	4	128	1	0	0	0	0	1	0	0	0	18136	838	29	4	1362	4	ZNF765	19	53912160	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	2783706	53912160	5216823	215	75892											
LAIR1	3903	broad.mit.edu	37	chr19	54875910	54875910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatgacttaccctcctgcGtgtggatggtctgggccagg	15	11	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:54875910G>A	uc002qfk.1	-	2	372	c.62C>T	c.(61-63)ACG>ATG	p.T21M	LAIR1_uc002qfl.1_Missense_Mutation_p.T21M|LAIR1_uc002qfm.1_Missense_Mutation_p.T21M|LAIR1_uc002qfn.1_Missense_Mutation_p.T21M|LAIR1_uc010yex.1_Missense_Mutation_p.T15M|LAIR1_uc002qfo.2_Intron	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like	21						integral to membrane|plasma membrane	protein binding|receptor activity			ovary(4)	4	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		ACCCTCCTGCGTGTGGATGGT	0.597													A	54875910	G	A	54875910	3	1	128	1	0	0	0	0	1	0	0	0	8602	1145	40	1	837	1	LAIR1	19	54875910	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	963750	54875910	4253073	216	75893											
NLRP7	199713	broad.mit.edu	37	chr19	55446019	55446019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccggggtggcacagtgaCctcccaacctgtgaaaagag	13	12	0	3			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:55446019C>T	uc002qih.3	-	7	2385	c.2309G>A	c.(2308-2310)GGT>GAT	p.G770D	NLRP7_uc002qig.3_Missense_Mutation_p.G742D|NLRP7_uc002qii.3_Missense_Mutation_p.G770D|NLRP7_uc010esk.2_Missense_Mutation_p.G770D|NLRP7_uc010esl.2_Missense_Mutation_p.G798D	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	770	LRR 3.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		GGCACAGTGACCTCCCAACCT	0.438													T	55446019	C	T	55446019	3	4	128	1	0	0	0	0	1	0	0	0	10482	507	18	4	824	4	NLRP7	19	55446019	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	570109	55446019	3682964	217	75894											
FASTKD5	60493	broad.mit.edu	37	chr20	3127667	3127667	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcaggctgcggggcacaGgccagccatctccatggccc	13	16	1	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr20:3127667G>A	uc002whz.2	-	2	2361	c.2050C>T	c.(2050-2052)CTG>TTG	p.L684L	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	684					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0						GCGGGGCACAGGCCAGCCATC	0.552													A	3127667	G	A	3127667	2	1	128	1	0	0	0	0	0	0	0	1	5688	991	35	4		4	FASTKD5	20	3127667	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08		3127667	59897853	218	75895											
C20orf194	25943	broad.mit.edu	37	chr20	3236670	3236670	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgcttagctgactgccgCagccagtccttgatgctgtc	10	14	0	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr20:3236670C>A	uc002wii.2	-	34	3294	c.3243G>T	c.(3241-3243)CTG>CTT	p.L1081L	C20orf194_uc002wij.3_Silent_p.L820L|C20orf194_uc002wik.2_Silent_p.L755L	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	1081											0						CTGACTGCCGCAGCCAGTCCT	0.577													A	3236670	C	A	3236670	2	1	128	1	0	0	0	0	0	0	0	1	2099	697	25	5		5	C20orf194	20	3236670	Silent	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	109003	3236670	59788850	219	75896											
ASXL1	171023	broad.mit.edu	37	chr20	31023525	31023525	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtccacggatacagcctctGactttgaaggtcacctcacg	9	13	3	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr20:31023525G>A	uc002wxs.2	+	12	3436	c.3010G>A	c.(3010-3012)GAC>AAC	p.D1004N	ASXL1_uc010geb.2_Missense_Mutation_p.D895N	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	1004					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.T1001fs*4(1)		haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						TACAGCCTCTGACTTTGAAGG	0.502			F|N|Mis		MDS|CMML								A	31023525	G	A	31023525	3	1	128	1	0	0	0	0	1	0	0	0	1066	1290	45	4	3066	4	ASXL1	20	31023525	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	27786855	31023525	32001995	220	75897											
MMP24	10893	broad.mit.edu	37	chr20	33862271	33862271	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaacgatgtgccgggctcCgtgaacgccgtggccgtggt	15	12	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr20:33862271C>T	uc002xbu.2	+	9	1800	c.1797C>T	c.(1795-1797)TCC>TCT	p.S599S	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	matrix metalloproteinase 24 preproprotein	599	Extracellular (Potential).				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TGCCGGGCTCCGTGAACGCCG	0.627													T	33862271	C	T	33862271	2	4	128	1	0	0	0	0	0	0	0	1	9661	639	23	1		1	MMP24	20	33862271	Silent	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	2838746	33862271	29163249	221	75898											
FAM83D	81610	broad.mit.edu	37	chr20	37581072	37581072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaggagaacactctttaCtgaaaaccaccttggccttc	7	12	2	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr20:37581072C>T	uc002xjg.2	+	4	1798	c.1757C>T	c.(1756-1758)ACT>ATT	p.T586I		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	hypothetical protein LOC81610	556					cell division|mitosis	cytoplasm|spindle pole				ovary(3)	3		Myeloproliferative disorder(115;0.00878)				ACACTCTTTACTGAAAACCAC	0.453													T	37581072	C	T	37581072	3	4	128	1	0	0	0	0	1	0	0	0	5636	565	20	4	1771	4	FAM83D	20	37581072	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	3718801	37581072	25444448	222	75899											
SALL4	57167	broad.mit.edu	37	chr20	50407967	50407967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcttggatgtgtctagcGccacagtggagaaagggctc	13	9	2	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr20:50407967G>A	uc002xwh.3	-	2	1156	c.1055C>T	c.(1054-1056)GCG>GTG	p.A352V	SALL4_uc010gii.2_Missense_Mutation_p.A352V|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	352					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TGTGTCTAGCGCCACAGTGGA	0.617													A	50407967	G	A	50407967	3	1	128	1	0	0	0	0	1	0	0	0	13813	1087	38	1	2118	1	SALL4	20	50407967	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	12826895	50407967	12617553	223	75900											
MC3R	4159	broad.mit.edu	37	chr20	54824543	54824543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacatgttcctctttgcgcGgctgcacgtcaagcgcatag	11	13	2	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr20:54824543G>A	uc002xxb.2	+	1	756	c.644G>A	c.(643-645)CGG>CAG	p.R215Q		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	252	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)|breast(2)	4			Colorectal(105;0.202)			CTCTTTGCGCGGCTGCACGTC	0.572													A	54824543	G	A	54824543	3	1	128	1	0	0	0	0	1	0	0	0	9365	1116	39	1	646	1	MC3R	20	54824543	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	4416576	54824543	8200977	224	75901											
ZNF831	128611	broad.mit.edu	37	chr20	57766724	57766724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcggcctcctggaggaagGggacaaggccggagagcccc	19	12	0	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr20:57766724G>A	uc002yan.2	+	1	650	c.650G>A	c.(649-651)GGG>GAG	p.G217E		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	217						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CTGGAGGAAGGGGACAAGGCC	0.687													A	57766724	G	A	57766724	3	1	128	1	0	0	0	0	1	0	0	0	18182	1232	43	4	652	4	ZNF831	20	57766724	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	2942181	57766724	5258796	225	75902											
ARFGAP1	55738	broad.mit.edu	37	chr20	61919114	61919114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaggtgtggggctcggcCtccaccaacaggaacagcaa	15	11	0	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr20:61919114C>T	uc002yem.2	+	13	1222	c.1110C>T	c.(1108-1110)GCC>GCT	p.A370A	ARFGAP1_uc011aas.1_Silent_p.A325A|ARFGAP1_uc011aat.1_Silent_p.A257A|ARFGAP1_uc002yel.2_Silent_p.A378A|ARFGAP1_uc002yen.2_3'UTR|ARFGAP1_uc002yeo.1_RNA	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating	370					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			pancreas(1)	1	all_cancers(38;1.59e-09)					GGGGCTCGGCCTCCACCAACA	0.692													T	61919114	C	T	61919114	2	4	128	1	0	0	0	0	0	0	0	1	849	668	24	4		4	ARFGAP1	20	61919114	Silent	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	4152390	61919114	1106406	226	75903											
MCM3AP	8888	broad.mit.edu	37	chr21	47685984	47685984	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctccgttcacaatttccccGactgacaccgtcagcttcct	5	18	2	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr21:47685984G>A	uc002zir.1	-	11	2922	c.2886C>T	c.(2884-2886)GTC>GTT	p.V962V	MCM3AP_uc002ziq.1_5'UTR	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	962					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					CAATTTCCCCGACTGACACCG	0.562													A	47685984	G	A	47685984	2	1	128	1	0	0	0	0	0	0	0	1	9388	1045	37	1		1	MCM3AP	21	47685984	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08		47685984	443911	227	75904											
SCARF2	91179	broad.mit.edu	37	chr22	20785156	20785156	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtcaagcagcggccctcGgccaccgtgcacggctgctg	13	17	1	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr22:20785156G>A	uc002zsj.1	-	5	999	c.894C>T	c.(892-894)GCC>GCT	p.A298A	SCARF2_uc002zsk.1_Silent_p.A298A	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2 isoform 1	298	Extracellular (Potential).				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGCGGCCCTCGGCCACCGTGC	0.706													A	20785156	G	A	20785156	2	1	128	1	0	0	0	0	0	0	0	1	13884	1103	39	1		1	SCARF2	22	20785156	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08		20785156	30519410	228	75905											
MYH9	4627	broad.mit.edu	37	chr22	36684873	36684873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaggttgacctccaacCgcagcttggcatcttcggtg	11	14	1	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr22:36684873C>T	uc003apg.2	-	33	4901	c.4670G>A	c.(4669-4671)CGG>CAG	p.R1557Q		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1557	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GACCTCCAACCGCAGCTTGGC	0.627			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				T	36684873	C	T	36684873	3	4	128	1	0	0	0	0	1	0	0	0	10042	652	23	1	1248	1	MYH9	22	36684873	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	15899717	36684873	14619693	229	75906											
CYTH4	27128	broad.mit.edu	37	chr22	37695268	37695268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttccgcctcctcccccaggGatcccatcaacctgcaggtc	7	20	1	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr22:37695268G>A	uc003arf.2	+	6	471	c.355G>A	c.(355-357)GAT>AAT	p.D119N	CYTH4_uc003are.2_Missense_Mutation_p.D119N|CYTH4_uc011amw.1_Missense_Mutation_p.D62N|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	119	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						CTCCCCCAGGGATCCCATCAA	0.647													A	37695268	G	A	37695268	3	1	128	1	0	0	0	0	1	0	0	0	4206	1188	41	4	377	4	CYTH4	22	37695268	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	1010395	37695268	13609298	230	75907											
DMC1	11144	broad.mit.edu	37	chr22	38935402	38935403	+	Frame_Shift_Ins	INS	-	-	A													agcgatcagcaatgtccctaINSaggcgatctggacggctgga							TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr22:38935401_38935402T>TA	uc003avz.1	-	8	685_686	c.510_511A>TA	c.(508-513)cttaggfs	p.L170fs	DMC1_uc011anv.1_Intron	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	170					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	p.R169G(1)		large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					GCAATGTCCCTAAGGCGATCTG	0.411								Homologous recombination					A	38935403	-	A	38935402	7	5	128	1	0	1	1	0	0	0	0	0	4579	349	13	0	536	0	DMC1	22	38935402	Frame_Shift_Ins	INS	-	TCGA-BR-A4PE-01A-31D-A25D-08	1240134	38935402	12369164	231	75908											
ATXN10	25814	broad.mit.edu	37	chr22	46125340	46125340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttatgatagccaagataaCgagtgatgagccactcacca	8	11	1	4	rs149859910	byFrequency	TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr22:46125340C>T	uc003bgm.1	+	7	1021	c.764C>T	c.(763-765)ACG>ATG	p.T255M	ATXN10_uc011aqt.1_Missense_Mutation_p.T191M|ATXN10_uc003bgn.1_Missense_Mutation_p.T66M	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	ataxin 10	255					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				ovary(1)|kidney(1)	2		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		GCCAAGATAACGAGTGATGAG	0.393													T	46125340	C	T	46125340	3	4	128	1	0	0	0	0	1	0	0	0	1210	536	19	1	790	1	ATXN10	22	46125340	Missense_Mutation	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	7189938	46125340	5179226	232	75909											
HEPH	9843	broad.mit.edu	37	chrX	65393489	65393489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgatgactctgttcccccGgggggcagccatatctacaa	11	13	2	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chrX:65393489G>A	uc011moz.1	+	4	540	c.480G>A	c.(478-480)CCG>CCA	p.P160P	HEPH_uc004dwn.2_Silent_p.P160P|HEPH_uc004dwo.2_5'UTR|HEPH_uc010nkr.2_Silent_p.P160P|HEPH_uc011mpa.1_Silent_p.P160P	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	157	Extracellular (Potential).|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						CTGTTCCCCCGGGGGGCAGCC	0.532													A	65393489	G	A	65393489	2	1	128	1	0	0	0	0	0	0	0	1	7054	1103	39	1		1	HEPH	23	65393489	Silent	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08		65393489	89877071	233	75910											
AR	367	broad.mit.edu	37	chrX	66905930	66905930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaattgtccatcttgtcGtcttcggaaatgttatgaag	9	6	2	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chrX:66905930G>A	uc004dwu.1	+	3	2962	c.1847G>A	c.(1846-1848)CGT>CAT	p.R616H	AR_uc011mpd.1_Missense_Mutation_p.R616H|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.R616H|AR_uc004dwv.1_Missense_Mutation_p.R84H	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	615	NR C4-type.|Interaction with HIPK3 (By similarity).|Nuclear receptor.		R -> H (in AIS and PAIS).|R -> P (in AIS).|Missing (in AIS).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CCATCTTGTCGTCTTCGGAAA	0.313									Androgen_Insensitivity_Syndrome				A	66905930	G	A	66905930	3	1	128	1	0	0	0	0	1	0	0	0	836	1145	40	1	1881	1	AR	23	66905930	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	1512441	66905930	88364630	234	75911											
MAGEE1	57692	broad.mit.edu	37	chrX	75650027	75650027	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacaaactgggacctgtgccCtttgaagggttagaagagag	13	7	0	3			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chrX:75650027C>A	uc004ecm.1	+	1	1911	c.1704C>A	c.(1702-1704)CCC>CCA	p.P568P		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	568	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						GACCTGTGCCCTTTGAAGGGT	0.493													A	75650027	C	A	75650027	2	1	128	1	0	0	0	0	0	0	0	1	9185	668	24	5		5	MAGEE1	23	75650027	Silent	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	8744097	75650027	79620533	235	75912											
TEX13B	56156	broad.mit.edu	37	chrX	107225140	107225140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaaagcgcacacccaagGccaggctgccccaggtgcag	14	15	0	0			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chrX:107225140G>A	uc004enn.1	-	2	311	c.218C>T	c.(217-219)GCC>GTC	p.A73V		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	testis expressed 13B	73										ovary(1)	1						CACACCCAAGGCCAGGCTGCC	0.622													A	107225140	G	A	107225140	3	1	128	1	0	0	0	0	1	0	0	0	15774	1203	42	2	728	2	TEX13B	23	107225140	Missense_Mutation	SNP	G	TCGA-BR-A4PE-01A-31D-A25D-08	31575113	107225140	48045420	236	75913											
HTR2C	3358	broad.mit.edu	37	chrX	114141534	114141534	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgaaagaaaagcttcgaaAgtccttgggattgttttctt	9	5	1	2			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chrX:114141534A>G	uc004epu.1	+	6	1661	c.933A>G	c.(931-933)AAA>AAG	p.K311K	HTR2C_uc010nqc.1_Silent_p.K311K|HTR2C_uc004epv.1_3'UTR	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	311	Cytoplasmic (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	AAGCTTCGAAAGTCCTTGGGA	0.438													G	114141534	A	G	114141534	2	3	128	1	0	0	0	0	0	0	0	1	7443	69	3	3		3	HTR2C	23	114141534	Silent	SNP	A	TCGA-BR-A4PE-01A-31D-A25D-08	6916394	114141534	41129026	237	75914											
MAGEC2	51438	broad.mit.edu	37	chrX	141290910	141290910	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggagaactgtggggcacCtcccgatactccaggtaatg	14	10	0	1			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chrX:141290910C>T	uc004fbu.1	-	3	1212	c.864G>A	c.(862-864)GAG>GAA	p.E288E		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	288	MAGE.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TGTGGGGCACCTCCCGATACT	0.507										HNSCC(46;0.14)			T	141290910	C	T	141290910	2	4	128	1	0	0	0	0	0	0	0	1	9181	680	24	4		4	MAGEC2	23	141290910	Silent	SNP	C	TCGA-BR-A4PE-01A-31D-A25D-08	27149376	141290910	13979650	238	75915											
PRDM16	63976	broad.mit.edu	37	chr1	3319370	3319370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaggagcccacgttccGctgtgacgagtgtgacgaac	14	11	0	3			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr1:3319370G>A	uc001akf.2	+	6	772	c.692G>A	c.(691-693)CGC>CAC	p.R231H	PRDM16_uc001akc.2_Missense_Mutation_p.R231H|PRDM16_uc001akd.2_Missense_Mutation_p.R231H|PRDM16_uc001ake.2_Missense_Mutation_p.R231H|PRDM16_uc009vlh.2_5'UTR	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	231	C2H2-type 1; atypical.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCCACGTTCCGCTGTGACGAG	0.627			T	EVI1	MDS|AML								A	3319370	G	A	3319370	3	1	129	1	0	0	0	0	1	0	0	0	12457	1087	38	1	714	1	PRDM16	1	3319370	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08		3319370	245931251	1	75916											
HIST2H2BF	440689	broad.mit.edu	37	chr1	149783796	149783796	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcggctgcgcttgcgcttcTtgccgtccttcttctgcact	10	15	3	0			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr1:149783796T>C	uc001esr.2	-	1	133	c.83A>G	c.(82-84)AAG>AGG	p.K28R	HIST2H2BF_uc010pbj.1_Missense_Mutation_p.K28R|HIST2H2BF_uc010pbk.1_Missense_Mutation_p.K28R	NM_001024599	NP_001019770	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf isoform a	28					nucleosome assembly	nucleosome|nucleus	DNA binding				0	Breast(34;0.0124)|all_hematologic(923;0.127)					CTTGCGCTTCTTGCCGTCCTT	0.567													C	149783796	T	C	149783796	3	2	129	1	0	0	0	0	1	0	0	0	7180	1609	56	3	718	3	HIST2H2BF	1	149783796	Missense_Mutation	SNP	T	TCGA-BR-A4PF-01A-11D-A25D-08	146464426	149783796	99466825	2	75917											
TDRKH	11022	broad.mit.edu	37	chr1	151748570	151748570	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgagctgacctcagcactgAcctgagagccctgaggtcct	11	13	1	5			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr1:151748570A>T	uc009wnb.1	-	8	1399	c.1217_splice	c.e8+1	p.R406_splice	TDRKH_uc001eyy.2_Splice_Site_p.R182_splice|TDRKH_uc001ezb.3_Splice_Site_p.R402_splice|TDRKH_uc001ezc.3_Splice_Site_p.R361_splice|TDRKH_uc001eza.3_Splice_Site_p.R406_splice|TDRKH_uc001ezd.3_Splice_Site_p.R406_splice|TDRKH_uc010pdn.1_Splice_Site_p.R182_splice	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing isoform a								RNA binding			ovary(1)|pancreas(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCAGCACTGACCTGAGAGCC	0.532													T	151748570	A	T	151748570	5	4	129	1	0	0	0	0	0	0	1	0	15734	289	10	5	490	5	TDRKH	1	151748570	Splice_Site	SNP	A	TCGA-BR-A4PF-01A-11D-A25D-08	1964774	151748570	97502051	3	75918											
FLG	2312	broad.mit.edu	37	chr1	152276817	152276817	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggactgtgagtgtctagaGctgtccgcctgagtggaagc	15	10	1	3			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr1:152276817G>A	uc001ezu.1	-	3	10581	c.10545C>T	c.(10543-10545)AGC>AGT	p.S3515S		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3515	Ser-rich.|Filaggrin 21.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGTCTAGAGCTGTCCGCCT	0.567									Ichthyosis				A	152276817	G	A	152276817	2	1	129	1	0	0	0	0	0	0	0	1	5922	962	34	2		2	FLG	1	152276817	Silent	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	528247	152276817	96973804	4	75919											
HMCN1	83872	broad.mit.edu	37	chr1	186081953	186081953	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgaatccaggcaacacctCgagtgcgaatcctatctgga	10	12	1	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr1:186081953C>T	uc001grq.1	+	72	11228	c.10999C>T	c.(10999-11001)CGA>TGA	p.R3667*		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3667	Ig-like C2-type 35.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GGCAACACCTCGAGTGCGAAT	0.393													T	186081953	C	T	186081953	4	4	129	1	0	0	0	0	0	1	0	0	7220	876	31	1	11285	1	HMCN1	1	186081953	Nonsense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	33805136	186081953	63168668	5	75920											
KCNT2	343450	broad.mit.edu	37	chr1	196303015	196303015	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatctggtgtagtttcAtcttctgattggtcacttag	8	8	7	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr1:196303015A>G	uc001gtd.1	-	17	2019	c.1959T>C	c.(1957-1959)GAT>GAC	p.D653D	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.D603D|KCNT2_uc001gtf.1_Silent_p.D653D|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.D653D|KCNT2_uc001gth.1_Silent_p.D174D	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	653	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						GTGTAGTTTCATCTTCTGATT	0.358													G	196303015	A	G	196303015	2	3	129	1	0	0	0	0	0	0	0	1	8092	214	8	3		3	KCNT2	1	196303015	Silent	SNP	A	TCGA-BR-A4PF-01A-11D-A25D-08	10221062	196303015	52947606	6	75921											
CFHR5	81494	broad.mit.edu	37	chr1	196953209	196953209	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tacagccttcaaaacaatgaGaaaaacatttcgtgtgtaga	7	7	1	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr1:196953209G>T	uc001gts.3	+	3	500	c.372G>T	c.(370-372)GAG>GAT	p.E124D		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	124	Sushi 2.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						AAAACAATGAGAAAAACATTT	0.378													T	196953209	G	T	196953209	3	4	129	1	0	0	0	0	1	0	0	0	3288	933	33	5	382	5	CFHR5	1	196953209	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	650194	196953209	52297412	7	75922											
IL19	29949	broad.mit.edu	37	chr1	207010359	207010359	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccacattggagactctgcaGatcattaaggtattggcctg	10	9	2	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr1:207010359G>T	uc001hep.2	+	4	1140	c.201G>T	c.(199-201)CAG>CAT	p.Q67H	IL19_uc001heo.2_Missense_Mutation_p.Q105H|IL19_uc010prx.1_Missense_Mutation_p.Q67H	NM_013371	NP_037503	Q9UHD0	IL19_HUMAN	interleukin 19 isoform 2 precursor	67					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(75;0.211)			AGACTCTGCAGATCATTAAGG	0.438													T	207010359	G	T	207010359	3	4	129	1	0	0	0	0	1	0	0	0	7649	933	33	5	325	5	IL19	1	207010359	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	10057150	207010359	42240262	8	75923											
LAMB3	3914	broad.mit.edu	37	chr1	209798993	209798993	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcagggaaagggaattacCtgagggagaggatggcactg	18	5	0	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr1:209798993C>A	uc001hhg.2	-	13	2366	c.1976G>T	c.(1975-1977)AGG>ATG	p.R659M	LAMB3_uc009xco.2_Missense_Mutation_p.R659M|LAMB3_uc001hhh.2_Missense_Mutation_p.R659M|LAMB3_uc010psl.1_Intron|hsa-mir-4260|MI0015859_5'Flank	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	659	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGGGAATTACCTGAGGGAGAG	0.483													A	209798993	C	A	209798993	3	1	129	1	0	0	0	0	1	0	0	0	8612	695	24	5	1582	5	LAMB3	1	209798993	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	2788634	209798993	39451628	9	75924											
DYSF	8291	broad.mit.edu	37	chr2	71743364	71743364	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agctgtttgatgagcccatcTttatcacggtatgtctcagc	9	10	3	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr2:71743364T>A	uc002sie.2	+	8	1223	c.847T>A	c.(847-849)TTT>ATT	p.F283I	DYSF_uc010feg.2_Missense_Mutation_p.F314I|DYSF_uc010feh.2_Missense_Mutation_p.F283I|DYSF_uc002sig.3_Missense_Mutation_p.F283I|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.F283I|DYSF_uc010fef.2_Missense_Mutation_p.F314I|DYSF_uc010fei.2_Missense_Mutation_p.F314I|DYSF_uc010fek.2_Missense_Mutation_p.F315I|DYSF_uc010fej.2_Missense_Mutation_p.F284I|DYSF_uc010fel.2_Missense_Mutation_p.F284I|DYSF_uc010feo.2_Missense_Mutation_p.F315I|DYSF_uc010fem.2_Missense_Mutation_p.F284I|DYSF_uc010fen.2_Missense_Mutation_p.F315I|DYSF_uc002sif.2_Missense_Mutation_p.F284I	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	283	Cytoplasmic (Potential).|C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						TGAGCCCATCTTTATCACGGT	0.423													A	71743364	T	A	71743364	3	1	129	1	0	0	0	0	1	0	0	0	4859	1609	56	5	1069	5	DYSF	2	71743364	Missense_Mutation	SNP	T	TCGA-BR-A4PF-01A-11D-A25D-08		71743364	171456009	10	75925											
LRP1B	53353	broad.mit.edu	37	chr2	141232848	141232848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaacactctgattggttcCatccattccaacacggccaa	6	14	1	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr2:141232848C>T	uc002tvj.1	-	60	10456	c.9484G>A	c.(9484-9486)GGA>AGA	p.G3162R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3162	Extracellular (Potential).|LDL-receptor class B 30.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGATTGGTTCCATCCATTCCA	0.373										TSP Lung(27;0.18)			T	141232848	C	T	141232848	3	4	129	1	0	0	0	0	1	0	0	0	8955	603	21	4	4443	4	LRP1B	2	141232848	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	69489484	141232848	101966525	11	75926											
STAM2	10254	broad.mit.edu	37	chr2	152992030	152992030	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatttaacttacctgcctcAgtctctatgtttaaattagt	5	8	2	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr2:152992030A>C	uc002tyc.3	-	8	1142	c.792T>G	c.(790-792)ACT>ACG	p.T264T	STAM2_uc010foa.1_Silent_p.T264T|STAM2_uc002tyd.2_Silent_p.T264T	NM_005843	NP_005834	O75886	STAM2_HUMAN	signal transducing adaptor molecule 2	264					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.22)		TACCTGCCTCAGTCTCTATGT	0.308													C	152992030	A	C	152992030	2	2	129	1	0	0	0	0	0	0	0	1	15248	175	7	5		5	STAM2	2	152992030	Silent	SNP	A	TCGA-BR-A4PF-01A-11D-A25D-08	11759182	152992030	90207343	12	75927											
DPP4	1803	broad.mit.edu	37	chr2	162891790	162891790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatatgctaaaaaagtgcCgtttggagaccaccacagag	11	9	0	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr2:162891790C>T	uc002ubz.2	-	9	1219	c.658G>A	c.(658-660)GGC>AGC	p.G220S	DPP4_uc010fpb.2_5'UTR	NM_001935	NP_001926	P27487	DPP4_HUMAN	dipeptidylpeptidase IV	220	Extracellular (Potential).				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			ovary(3)	3					Sitagliptin(DB01261)	AAAAAAGTGCCGTTTGGAGAC	0.423													T	162891790	C	T	162891790	3	4	129	1	0	0	0	0	1	0	0	0	4729	652	23	1	1714	1	DPP4	2	162891790	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	9899760	162891790	80307583	13	75928											
SCN7A	6332	broad.mit.edu	37	chr2	167322420	167322421	+	Frame_Shift_Ins	INS	-	-	A													attagagaaaatatgctcagINSaaaaaacagagttaggataa							TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr2:167322420_167322421insA	uc002udu.1	-	7	868_869	c.741_742insT	c.(739-744)TTTCTGfs	p.F247fs	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	247_248	Helical; Name=S5 of repeat I; (By similarity).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						AATATGCTCAGAAAAAACAGAG	0.411													A	167322421	-	A	167322420	7	5	129	1	0	1	1	0	0	0	0	0	13923	933	33	0	4382	0	SCN7A	2	167322420	Frame_Shift_Ins	INS	-	TCGA-BR-A4PF-01A-11D-A25D-08	4430630	167322420	75876953	14	75929	341	2									
SCN7A	6332	broad.mit.edu	37	chr2	167322421	167322422	+	Frame_Shift_Ins	INS	-	-	A													ttagagaaaatatgctcagaINSaaaaacagagttaggataat							TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr2:167322420_167322421G>GA	uc002udu.2	-	6	871_872	c.741_742C>TC	c.(739-744)tttctgfs	p.F247fs	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	247					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AATATGCTCAGAAAAAACAGAG	0.411													A	167322422	-	A	167322421	7	5	129	1	0	1	1	0	0	0	0	0	13923	243	9	0	4383	0	SCN7A	2	167322421	Frame_Shift_Ins	INS	-	TCGA-BR-A4PF-01A-11D-A25D-08	1	167322421	75876952	15	75930	341	2									
TTN	7273	broad.mit.edu	37	chr2	179643826	179643826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccatgtttgatgcgcttgCcatctttgtaccaagcaatc	7	12	1	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr2:179643826C>T	uc010zfg.1	-	24	4207	c.3983G>A	c.(3982-3984)GGC>GAC	p.G1328D	TTN_uc010zfh.1_Missense_Mutation_p.G1282D|TTN_uc010zfi.1_Missense_Mutation_p.G1282D|TTN_uc010zfj.1_Missense_Mutation_p.G1282D|TTN_uc002unb.2_Missense_Mutation_p.G1328D|uc002unc.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1328							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGCGCTTGCCATCTTTGTA	0.363													T	179643826	C	T	179643826	3	4	129	1	0	0	0	0	1	0	0	0	16732	739	26	2	107361	2	TTN	2	179643826	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	12321405	179643826	63555547	16	75931											
AOX1	316	broad.mit.edu	37	chr2	201531408	201531408	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaacttttttttaatactAgaacatcagaacagacattg	4	6	1	3			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr2:201531408A>G	uc002uvx.2	+	32	3645	c.3544_splice	c.e32-2	p.N1182_splice	AOX1_uc010zhf.1_Splice_Site_p.N738_splice|AOX1_uc010fsu.2_Splice_Site_p.N548_splice	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1						inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTTTAATACTAGAACATCAGA	0.373													G	201531408	A	G	201531408	5	3	129	1	0	0	0	0	0	0	1	0	729	434	15	3	3668	3	AOX1	2	201531408	Splice_Site	SNP	A	TCGA-BR-A4PF-01A-11D-A25D-08	21887582	201531408	41667965	17	75932			1	35		2	2	23	N	C_A	7.745999e-05
AOX1	316	broad.mit.edu	37	chr2	201531430	201531430	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacatcagaacagacattgtCatggatgttggctgcagtat	10	7	2	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr2:201531430C>T	uc002uvx.2	+	32	3665	c.3564C>T	c.(3562-3564)GTC>GTT	p.V1188V	AOX1_uc010zhf.1_Silent_p.V744V|AOX1_uc010fsu.2_Silent_p.V554V	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	1188					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CAGACATTGTCATGGATGTTG	0.383													T	201531430	C	T	201531430	2	4	129	1	0	0	0	0	0	0	0	1	729	813	29	4		4	AOX1	2	201531430	Silent	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	22	201531430	41667943	18	75933			1	35		2	2	23	N	C_A	7.745999e-05
IHH	3549	broad.mit.edu	37	chr2	219925067	219925067	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgagcggcacgagtttgcgTggcggtcgccggcggctgcc	19	13	0	0			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr2:219925067T>C	uc002vjo.1	-	1	123	c.123A>G	c.(121-123)CCA>CCG	p.P41P	hsa-mir-3131|MI0014151_5'Flank	NM_002181	NP_002172	Q14623	IHH_HUMAN	Indian hedgehog homolog precursor	41					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)	1		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGAGTTTGCGTGGCGGTCGCC	0.692													C	219925067	T	C	219925067	2	2	129	1	0	0	0	0	0	0	0	1	7607	1683	59	3		3	IHH	2	219925067	Silent	SNP	T	TCGA-BR-A4PF-01A-11D-A25D-08	18393637	219925067	23274306	19	75934											
HESX1	8820	broad.mit.edu	37	chr3	57232304	57232304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaccttttcagttttgcaCgccgattttgaaaccaaatc	8	10	1	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr3:57232304C>T	uc003din.3	-	4	813	c.479G>A	c.(478-480)CGT>CAT	p.R160H		NM_003865	NP_003856	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	160	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		CAGTTTTGCACGCCGATTTTG	0.294													T	57232304	C	T	57232304	3	4	129	1	0	0	0	0	1	0	0	0	7072	536	19	1	82	1	HESX1	3	57232304	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08		57232304	140790126	20	75935											
GOLIM4	27333	broad.mit.edu	37	chr3	167750460	167750460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttcttcctcctccagggCctttctgtgctcctcttcca	5	17	3	0			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr3:167750460C>T	uc003ffe.2	-	9	1368	c.1024G>A	c.(1024-1026)GCC>ACC	p.A342T	GOLIM4_uc011bpe.1_Missense_Mutation_p.A342T|GOLIM4_uc011bpf.1_Missense_Mutation_p.A314T|GOLIM4_uc011bpg.1_Missense_Mutation_p.A314T	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	342	Glu-rich.|Lumenal (Potential).				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)|skin(1)	5						TCCTCCAGGGCCTTTCTGTGC	0.547													T	167750460	C	T	167750460	3	4	129	1	0	0	0	0	1	0	0	0	6566	739	26	2	1098	2	GOLIM4	3	167750460	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	110518156	167750460	30271970	21	75936											
EXOC1	55763	broad.mit.edu	37	chr4	56768601	56768601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttaacaaacaagaacttcGtaaagtcattaaggagtacc	6	7	1	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr4:56768601G>A	uc003hbe.1	+	18	2587	c.2429G>A	c.(2428-2430)CGT>CAT	p.R810H	EXOC1_uc003hbf.1_Missense_Mutation_p.R810H|EXOC1_uc003hbg.1_Missense_Mutation_p.R795H	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	810					exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)					CAAGAACTTCGTAAAGTCATT	0.383													A	56768601	G	A	56768601	3	1	129	1	0	0	0	0	1	0	0	0	5301	1145	40	1	2495	1	EXOC1	4	56768601	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08		56768601	134385675	22	75937											
WDFY3	23001	broad.mit.edu	37	chr4	85675010	85675012	+	In_Frame_Del	DEL	TCT	TCT	-													attctcggagccaagatcccTcttcttctgattgccaaggc							TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr4:85675009_85675011CTCT>C	uc003hpd.3	-	34	5986_5988	c.5578_5580AGAG>G	c.(5578-5580)gag>G	p.E1860del		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1860						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCCAAGATCCCTCTTCTTCTGAT	0.424													-	85675012	TCT	-	85675010	7	5	129	1	0	1	0	1	0	0	0	0	17267	1551	54	0	5137	0	WDFY3	4	85675010	In_Frame_Del	DEL	TCT	TCGA-BR-A4PF-01A-11D-A25D-08	28906409	85675010	105479266	23	75938											
GRID2	2895	broad.mit.edu	37	chr4	94316852	94316852	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtggttctacgtgtagtaaCtgttctggtaagtattatct	10	5	3	0			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr4:94316852C>G	uc011cdt.1	+	9	1598	c.1340C>G	c.(1339-1341)ACT>AGT	p.T447S	GRID2_uc011cdu.1_Missense_Mutation_p.T352S	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	447	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CGTGTAGTAACTGTTCTGGTA	0.383													G	94316852	C	G	94316852	3	3	129	1	0	0	0	0	1	0	0	0	6772	565	20	5	1374	5	GRID2	4	94316852	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	8641842	94316852	96837424	24	75939											
C4orf37	285555	broad.mit.edu	37	chr4	99049733	99049733	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctggtaagtgtaggtgatCttgaaattttctgcaaggaa	11	4	3	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr4:99049733C>A	uc003htt.1	-	3	323	c.233G>T	c.(232-234)AGA>ATA	p.R78I		NM_174952	NP_777612	Q8N412	CD037_HUMAN	hypothetical protein LOC285555	78											0				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		TGTAGGTGATCTTGAAATTTT	0.313													A	99049733	C	A	99049733	3	1	129	1	0	0	0	0	1	0	0	0	2267	913	32	5	1182	5	C4orf37	4	99049733	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	4732881	99049733	92104543	25	75940											
KIAA1109	84162	broad.mit.edu	37	chr4	123176382	123176382	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgtttactatgtaatAtactacaccactatctgcac	3	11	2	0			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr4:123176382A>G	uc003ieh.2	+	38	6367	c.6322A>G	c.(6322-6324)ATA>GTA	p.I2108V	KIAA1109_uc003iel.1_Missense_Mutation_p.I43V|KIAA1109_uc003iek.2_Missense_Mutation_p.I727V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2108					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ACTATGTAATATACTACACCA	0.333													G	123176382	A	G	123176382	3	3	129	1	0	0	0	0	1	0	0	0	8208	449	16	3	6472	3	KIAA1109	4	123176382	Missense_Mutation	SNP	A	TCGA-BR-A4PF-01A-11D-A25D-08	24126649	123176382	67977894	26	75941											
ADAD1	132612	broad.mit.edu	37	chr4	123336720	123336720	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gagtctgaattgggcacaagGagatgtttctttggagattg	14	4	2	3			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr4:123336720G>T	uc003ieo.2	+	11	1668	c.1436G>T	c.(1435-1437)GGA>GTA	p.G479V	ADAD1_uc003iep.2_Missense_Mutation_p.G468V|ADAD1_uc003ieq.2_Missense_Mutation_p.G461V	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	479	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						TGGGCACAAGGAGATGTTTCT	0.348													T	123336720	G	T	123336720	3	4	129	1	0	0	0	0	1	0	0	0	231	1174	41	5	1470	5	ADAD1	4	123336720	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	160338	123336720	67817556	27	75942											
SPATA5	166378	broad.mit.edu	37	chr4	123868603	123868603	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaaatagtgctcatggAtacgttggagcagacttgaa	12	7	1	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr4:123868603A>G	uc003iez.3	+	9	1747	c.1674A>G	c.(1672-1674)GGA>GGG	p.G558G	SPATA5_uc003iey.2_Silent_p.G557G	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	558					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0						GTGCTCATGGATACGTTGGAG	0.468													G	123868603	A	G	123868603	2	3	129	1	0	0	0	0	0	0	0	1	15010	320	12	3		3	SPATA5	4	123868603	Silent	SNP	A	TCGA-BR-A4PF-01A-11D-A25D-08	531883	123868603	67285673	28	75943											
ADCY2	108	broad.mit.edu	37	chr5	7802364	7802364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcctatgactgcgtctgcGtcatgtttgcctccattccg	9	13	2	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr5:7802364G>A	uc003jdz.1	+	21	2729	c.2662G>A	c.(2662-2664)GTC>ATC	p.V888I	ADCY2_uc011cmo.1_Missense_Mutation_p.V708I|ADCY2_uc010itm.1_Missense_Mutation_p.V84I	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	888	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.V888I(2)		ovary(5)|pancreas(1)|skin(1)	7						CTGCGTCTGCGTCATGTTTGC	0.488													A	7802364	G	A	7802364	3	1	129	1	0	0	0	0	1	0	0	0	294	1145	40	1	2744	1	ADCY2	5	7802364	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08		7802364	173112896	29	75944											
VCAN	1462	broad.mit.edu	37	chr5	82808156	82808156	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagaaccctgtatcgttTtgagaaccagacaggcttcc	11	10	0	3			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr5:82808156T>A	uc003kii.3	+	6	1339	c.983T>A	c.(982-984)TTT>TAT	p.F328Y	VCAN_uc003kij.3_Missense_Mutation_p.F328Y|VCAN_uc010jau.2_Missense_Mutation_p.F328Y|VCAN_uc003kik.3_Missense_Mutation_p.F328Y|VCAN_uc003kih.3_Missense_Mutation_p.F328Y	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	328	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTGTATCGTTTTGAGAACCAG	0.493													A	82808156	T	A	82808156	3	1	129	1	0	0	0	0	1	0	0	0	17135	1841	64	5	1001	5	VCAN	5	82808156	Missense_Mutation	SNP	T	TCGA-BR-A4PF-01A-11D-A25D-08	75005792	82808156	98107104	30	75945											
PCDHB10	56126	broad.mit.edu	37	chr5	140572528	140572528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcacgcgccagtatttcagGacaaagaaacagtcttaaaa	7	9	3	1	rs2907324		TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr5:140572528G>A	uc003lix.2	+	1	577	c.403G>A	c.(403-405)GAC>AAC	p.D135N		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	135	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTATTTCAGGACAAAGAAAC	0.408													A	140572528	G	A	140572528	3	1	129	1	0	0	0	0	1	0	0	0	11535	1174	41	4	405	4	PCDHB10	5	140572528	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	57764372	140572528	40342732	31	75946											
FAT2	2196	broad.mit.edu	37	chr5	150945845	150945845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaccgaggctctgattcgCggtccaggtgtcctgtaaca	12	11	1	1	rs147663319		TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr5:150945845C>T	uc003lue.3	-	1	2661	c.2648G>A	c.(2647-2649)CGC>CAC	p.R883H	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.R883H	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	883	Extracellular (Potential).|Cadherin 7.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCTGATTCGCGGTCCAGGTG	0.552													T	150945845	C	T	150945845	3	4	129	1	0	0	0	0	1	0	0	0	5690	768	27	1	10493	1	FAT2	5	150945845	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	10373317	150945845	29969415	32	75947											
PECI	10455	broad.mit.edu	37	chr6	4119493	4119493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggcctaggtgactaaatGgtgtatgaaatgttgcctgc	12	6	0	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr6:4119493G>A	uc003mwf.2	-	8	849	c.812C>T	c.(811-813)CCA>CTA	p.P271L	C6orf201_uc003mwa.3_Intron|C6orf201_uc003mvz.3_Intron|C6orf201_uc011dhw.1_Intron|C6orf201_uc003mwb.3_Intron|PECI_uc003mwc.2_Missense_Mutation_p.P104L|PECI_uc003mwd.2_Missense_Mutation_p.P241L|PECI_uc003mwe.2_Missense_Mutation_p.P118L|PECI_uc010jnr.1_RNA	NM_206836	NP_996667	O75521	ECI2_HUMAN	peroxisomal D3,D2-enoyl-CoA isomerase isoform 2	271	ECH-like.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding				0	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GTGACTAAATGGTGTATGAAA	0.328													A	4119493	G	A	4119493	3	1	129	1	0	0	0	0	1	0	0	0	11716	1348	47	4	384	4	PECI	6	4119493	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08		4119493	166995574	33	75948											
TNXB	7148	broad.mit.edu	37	chr6	32035600	32035600	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgtccctgtccttgtactGcacggtgaaggagtcgaagc	12	13	0	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr6:32035600G>T	uc003nzl.2	-	18	6584	c.6382C>A	c.(6382-6384)CAG>AAG	p.Q2128K		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2200	Fibronectin type-III 14.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						TCCTTGTACTGCACGGTGAAG	0.667													T	32035600	G	T	32035600	3	4	129	1	0	0	0	0	1	0	0	0	16343	1328	46	5	8439	5	TNXB	6	32035600	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	27916107	32035600	139079467	34	75949											
C6orf174	387104	broad.mit.edu	37	chr6	127797234	127797234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccagctgcaggtgctgcCgcagctccgacagggattcg	13	15	0	0			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr6:127797234C>T	uc003qbd.2	-	6	2802	c.1937G>A	c.(1936-1938)CGG>CAG	p.R646Q	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	646	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		CAGGTGCTGCCGCAGCTCCGA	0.637													T	127797234	C	T	127797234	3	4	129	1	0	0	0	0	1	0	0	0	2345	652	23	1	914	1	C6orf174	6	127797234	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	95761634	127797234	43317833	35	75950											
SYNE1	23345	broad.mit.edu	37	chr6	152647757	152647757	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacactggctatatatttcAgtcaaggtagcctgaaaaac	8	8	2	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr6:152647757A>C	uc010kiw.2	-	79	15569	c.14967T>G	c.(14965-14967)ACT>ACG	p.T4989T	SYNE1_uc003qot.3_Silent_p.T4918T|SYNE1_uc003qou.3_Silent_p.T4989T|SYNE1_uc010kiz.2_Silent_p.T744T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4989	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)		TATATATTTCAGTCAAGGTAG	0.413										HNSCC(10;0.0054)			C	152647757	A	C	152647757	2	2	129	1	0	0	0	0	0	0	0	1	15442	175	7	5		5	SYNE1	6	152647757	Silent	SNP	A	TCGA-BR-A4PF-01A-11D-A25D-08	24850523	152647757	18467310	36	75951											
FAM188B	84182	broad.mit.edu	37	chr7	30922556	30922556	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acaccacccaaaccatctctGaggacacagacaacgacctt	5	16	1	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr7:30922556G>A	uc003tbt.2	+	17	2250	c.2173G>A	c.(2173-2175)GAG>AAG	p.E725K	FAM188B_uc010kwe.2_Missense_Mutation_p.E696K|AQP1_uc011kac.1_Missense_Mutation_p.E71K|FAM188B_uc003tbu.2_Missense_Mutation_p.E245K	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	hypothetical protein LOC84182	725											0						AACCATCTCTGAGGACACAGA	0.582													A	30922556	G	A	30922556	3	1	129	1	0	0	0	0	1	0	0	0	5515	1291	45	4	2239	4	FAM188B	7	30922556	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08		30922556	128216107	37	75952											
NUDCD3	23386	broad.mit.edu	37	chr7	44431997	44431997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccacggtggccatggagcGctccttgttgatcttgtcaa	11	11	2	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr7:44431997G>A	uc003tkz.2	-	5	1060	c.874C>T	c.(874-876)CGC>TGC	p.R292C	NUDCD3_uc010kye.2_RNA	NM_015332	NP_056147	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	292											0						GCCATGGAGCGCTCCTTGTTG	0.572													A	44431997	G	A	44431997	3	1	129	1	0	0	0	0	1	0	0	0	10724	1087	38	1	219	1	NUDCD3	7	44431997	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	13509441	44431997	114706666	38	75953											
POM121L12	285877	broad.mit.edu	37	chr7	53103920	53103920	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggggcgctcagccagtgcCccaagggaagcgctaggttc	16	12	1	0			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr7:53103920C>A	uc003tpz.2	+	1	572	c.556C>A	c.(556-558)CCC>ACC	p.P186T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	186											0						CAGCCAGTGCCCCAAGGGAAG	0.577													A	53103920	C	A	53103920	3	1	129	1	0	0	0	0	1	0	0	0	12241	623	22	5	558	5	POM121L12	7	53103920	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	8671923	53103920	106034743	39	75954											
PCLO	27445	broad.mit.edu	37	chr7	82595406	82595407	+	Frame_Shift_Ins	INS	-	-	T													tttttcttctaggagtggctINSttttttcttcagaacgtatc							TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr7:82595405_82595406C>CT	uc003uhx.2	-	3	3987_3988	c.3698_3699G>AG	c.(3697-3699)aagfs	p.K1233fs	PCLO_uc003uhv.2_Frame_Shift_Ins_p.K1233fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1172					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTAGGAGTGGCTTTTTTTCTTC	0.386													T	82595407	-	T	82595406	7	5	129	1	0	1	1	0	0	0	0	0	11583	1609	56	0	11835	0	PCLO	7	82595406	Frame_Shift_Ins	INS	-	TCGA-BR-A4PF-01A-11D-A25D-08	29491486	82595406	76543257	40	75955											
GRM3	2913	broad.mit.edu	37	chr7	86416261	86416261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatcgacagcagcaactacGagcaagagtccaagatcatg	9	12	1	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr7:86416261G>A	uc003uid.2	+	3	2252	c.1153G>A	c.(1153-1155)GAG>AAG	p.E385K	GRM3_uc010lef.2_Missense_Mutation_p.E383K|GRM3_uc010leg.2_Missense_Mutation_p.E257K|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	385	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CAGCAACTACGAGCAAGAGTC	0.557													A	86416261	G	A	86416261	3	1	129	1	0	0	0	0	1	0	0	0	6798	1059	37	1	1159	1	GRM3	7	86416261	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	3820855	86416261	72722402	41	75956											
C7orf61	402573	broad.mit.edu	37	chr7	100061261	100061261	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caatgagtgtttcttggagtCagggtgtcctgagatggttg	15	5	2	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr7:100061261C>G	uc003uuz.1	-	2	358	c.112G>C	c.(112-114)GAC>CAC	p.D38H		NM_001004323	NP_001004323	Q8IZ16	CG061_HUMAN	hypothetical protein LOC402573	38											0						TTCTTGGAGTCAGGGTGTCCT	0.498													G	100061261	C	G	100061261	3	3	129	1	0	0	0	0	1	0	0	0	2408	826	29	5	516	5	C7orf61	7	100061261	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	13645000	100061261	59077402	42	75957											
FBXO24	26261	broad.mit.edu	37	chr7	100190614	100190614	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtgctggttggtcaggagaCccagcgggctctactgctcc	14	13	2	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr7:100190614C>A	uc003uvm.1	+	5	1060	c.767C>A	c.(766-768)ACC>AAC	p.T256N	FBXO24_uc010lha.1_RNA|FBXO24_uc003uvl.1_Missense_Mutation_p.T242N|FBXO24_uc003uvn.1_Intron|uc011kjy.1_RNA|FBXO24_uc011kjz.1_Missense_Mutation_p.T294N|FBXO24_uc011kka.1_Missense_Mutation_p.T244N	NM_033506	NP_277041	O75426	FBX24_HUMAN	F-box only protein 24 isoform 1	256						ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGTCAGGAGACCCAGCGGGCT	0.418													A	100190614	C	A	100190614	3	1	129	1	0	0	0	0	1	0	0	0	5735	507	18	5	942	5	FBXO24	7	100190614	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	129353	100190614	58948049	43	75958											
ZNF282	8427	broad.mit.edu	37	chr7	148895532	148895532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgcgagagccccagttGcccacagcagagatctcact	10	13	1	3			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr7:148895532G>A	uc003wfm.2	+	2	378	c.273G>A	c.(271-273)TTG>TTA	p.L91L	ZNF282_uc011kun.1_Silent_p.L91L|ZNF282_uc003wfn.2_Silent_p.L31L|ZNF282_uc003wfo.2_Silent_p.L31L	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	91					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		AGCCCCAGTTGCCCACAGCAG	0.617													A	148895532	G	A	148895532	2	1	129	1	0	0	0	0	0	0	0	1	17816	1310	46	2		2	ZNF282	7	148895532	Silent	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	48704918	148895532	10243131	44	75959											
DNAJB6	10049	broad.mit.edu	37	chr7	157155939	157155939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaattcaagcaagtagcGgaggcatatgaagtgctgtc	12	6	1	2	rs141947451	by1000genomes	TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr7:157155939G>A	uc003wnk.2	+	3	304	c.150G>A	c.(148-150)GCG>GCA	p.A50A	DNAJB6_uc003wnj.2_Silent_p.A50A|DNAJB6_uc003wnl.2_Silent_p.A37A|DNAJB6_uc011kvy.1_Intron|DNAJB6_uc011kvz.1_Silent_p.A50A|DNAJB6_uc010lqt.2_Silent_p.A50A	NM_058246	NP_490647	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	50	Interaction with HSP70.|J.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			ovary(2)	2	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		AGCAAGTAGCGGAGGCATATG	0.493													A	157155939	G	A	157155939	2	1	129	1	0	0	0	0	0	0	0	1	4624	1103	39	1		1	DNAJB6	7	157155939	Silent	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	8260407	157155939	1982724	45	75960											
RNF122	79845	broad.mit.edu	37	chr8	33416169	33416182	+	Frame_Shift_Del	DEL	AAGACAAAGATGCC	AAGACAAAGATGCC	-													agaagataaggctgagcatgAagacaaagatgcctgtgccg							TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr8:33416169_33416182delAAGACAAAGATGCC	uc003xjo.1	-	2	535_548	c.133_146delGGCATCTTTGTCTT	c.(133-147)GGCATCTTTGTCTTCfs	p.G45fs		NM_024787	NP_079063	Q9H9V4	RN122_HUMAN	ring finger protein 122	45_49	Helical; (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		GCTGAGCATGAAGACAAAGATGCCTGTGCCGAAG	0.556													-	33416182	AAGACAAAGATGCC	-	33416169	7	5	129	1	0	1	0	1	0	0	0	0	13432	246	9	0	341	0	RNF122	8	33416169	Frame_Shift_Del	DEL	AAGACAAAGATGCC	TCGA-BR-A4PF-01A-11D-A25D-08		33416169	112947853	46	75961											
GPR124	25960	broad.mit.edu	37	chr8	37699349	37699350	+	Frame_Shift_Ins	INS	-	-	G													gccggagccggcgggcacccINSggggaaacctcgcccaccgc							TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr8:37699349_37699350insG	uc003xkj.2	+	19	3856_3857	c.3493_3494insG	c.(3493-3495)CGGfs	p.R1165fs	GPR124_uc010lvy.2_Frame_Shift_Ins_p.R948fs	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	1165	Cytoplasmic (Potential).				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGCGGGCACCCGGGGAAACCTC	0.644													G	37699350	-	G	37699349	7	5	129	1	0	1	1	0	0	0	0	0	6638	643	23	0	3546	0	GPR124	8	37699349	Frame_Shift_Ins	INS	-	TCGA-BR-A4PF-01A-11D-A25D-08	4283180	37699349	108664673	47	75962											
PXDNL	137902	broad.mit.edu	37	chr8	52321614	52321614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgaagagcatgcagggcGcgtgggtgccccgggggtcg	21	11	0	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr8:52321614G>A	uc003xqu.3	-	17	2671	c.2570C>T	c.(2569-2571)GCG>GTG	p.A857V	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	857					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATGCAGGGCGCGTGGGTGCC	0.682													A	52321614	G	A	52321614	3	1	129	1	0	0	0	0	1	0	0	0	12848	1087	38	1	1849	1	PXDNL	8	52321614	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	14622265	52321614	94042408	48	75963											
SLC10A5	347051	broad.mit.edu	37	chr8	82606874	82606874	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gatttcttcaatgagtctttCttgcctaccttcagaatccc	5	12	5	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr8:82606874C>G	uc011lfs.1	-	1	334	c.334G>C	c.(334-336)GAA>CAA	p.E112Q		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	solute carrier family 10 (sodium/bile acid	112	Extracellular (Potential).					integral to membrane	bile acid:sodium symporter activity				0						ATGAGTCTTTCTTGCCTACCT	0.368													G	82606874	C	G	82606874	3	3	129	1	0	0	0	0	1	0	0	0	14377	922	32	5	984	5	SLC10A5	8	82606874	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	30285260	82606874	63757148	49	75964											
ZFAT	57623	broad.mit.edu	37	chr8	135613822	135613822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcaggaccttcatgaaagCggtgatgcctgaccggtgct	13	10	2	3			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr8:135613822C>T	uc003yup.2	-	6	2315	c.2140G>A	c.(2140-2142)GCT>ACT	p.A714T	ZFAT_uc003yun.2_Missense_Mutation_p.A702T|ZFAT_uc003yuo.2_Missense_Mutation_p.A702T|ZFAT_uc010meh.2_Missense_Mutation_p.A702T|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.A702T|ZFAT_uc010mej.2_Missense_Mutation_p.A652T|ZFAT_uc003yur.2_Missense_Mutation_p.A702T	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	714					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTCATGAAAGCGGTGATGCCT	0.542													T	135613822	C	T	135613822	3	4	129	1	0	0	0	0	1	0	0	0	17629	768	27	1	1635	1	ZFAT	8	135613822	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	53006948	135613822	10750200	50	75965											
PLEC	5339	broad.mit.edu	37	chr8	144998131	144998131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccaggctcttctgcacgCgctcctcagcctcacggcgc	10	20	4	0			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr8:144998131C>T	uc003zaf.1	-	31	6547	c.6377G>A	c.(6376-6378)CGC>CAC	p.R2126H	PLEC_uc003zab.1_Missense_Mutation_p.R1989H|PLEC_uc003zac.1_Missense_Mutation_p.R1993H|PLEC_uc003zad.2_Missense_Mutation_p.R1989H|PLEC_uc003zae.1_Missense_Mutation_p.R1957H|PLEC_uc003zag.1_Missense_Mutation_p.R1967H|PLEC_uc003zah.2_Missense_Mutation_p.R1975H|PLEC_uc003zaj.2_Missense_Mutation_p.R2016H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2126	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CTTCTGCACGCGCTCCTCAGC	0.736													T	144998131	C	T	144998131	3	4	129	1	0	0	0	0	1	0	0	0	12052	768	27	1	7685	1	PLEC	8	144998131	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	9384309	144998131	1365891	51	75966											
SMARCA2	6595	broad.mit.edu	37	chr9	2054682	2054682	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttaagaaccaaagcaaccGtggaactaaaagcacttcgg	8	9	0	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr9:2054682G>T	uc003zhc.2	+	6	1231	c.1132G>T	c.(1132-1134)GTG>TTG	p.V378L	SMARCA2_uc003zhd.2_Missense_Mutation_p.V378L|SMARCA2_uc010mha.2_Missense_Mutation_p.V369L	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	378					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CAAAGCAACCGTGGAACTAAA	0.408													T	2054682	G	T	2054682	3	4	129	1	0	0	0	0	1	0	0	0	14769	1145	40	5	1150	5	SMARCA2	9	2054682	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08		2054682	139158749	52	75967											
CNTLN	54875	broad.mit.edu	37	chr9	17416105	17416105	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagaattgtctgttaaagAatataaagaagttaatgaaa	8	2	1	4			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr9:17416105A>G	uc003zmz.2	+	18	3055	c.3029A>G	c.(3028-3030)GAA>GGA	p.E1010G	CNTLN_uc003zmy.2_Missense_Mutation_p.E1011G|CNTLN_uc010mio.2_Missense_Mutation_p.E690G	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1011	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		TCTGTTAAAGAATATAAAGAA	0.343													G	17416105	A	G	17416105	3	3	129	1	0	0	0	0	1	0	0	0	3639	246	9	3	3132	3	CNTLN	9	17416105	Missense_Mutation	SNP	A	TCGA-BR-A4PF-01A-11D-A25D-08	15361423	17416105	123797326	53	75968											
MUSK	4593	broad.mit.edu	37	chr9	113496549	113496549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttttgccaggatcctgcGggctcctgaatcccacaatg	10	12	0	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr9:113496549G>A	uc004bey.2	+	6	745	c.647G>A	c.(646-648)CGG>CAG	p.R216Q	MUSK_uc004bex.2_Missense_Mutation_p.R226Q	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	216	Ig-like 3.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						AGGATCCTGCGGGCTCCTGAA	0.438													A	113496549	G	A	113496549	3	1	129	1	0	0	0	0	1	0	0	0	9989	1116	39	1	703	1	MUSK	9	113496549	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	96080444	113496549	27716882	54	75969											
APBB1IP	54518	broad.mit.edu	37	chr10	26856151	26856151	+	Frame_Shift_Del	DEL	C	C	-													ccccggacttcatggagccgCccccagacttcgtgcccccg							TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr10:26856151delC	uc001iss.2	+	15	2056	c.1735delC	c.(1735-1737)CCCfs	p.P579fs		NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	579	Pro-rich.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7						CATGGAGCCGCCCCCAGACTT	0.493													-	26856151	C	-	26856151	7	5	129	1	0	1	0	1	0	0	0	0	760	739	26	0	1785	0	APBB1IP	10	26856151	Frame_Shift_Del	DEL	C	TCGA-BR-A4PF-01A-11D-A25D-08		26856151	108678596	55	75970											
RBP3	5949	broad.mit.edu	37	chr10	48387918	48387918	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggagagcatctgcaggtcaGcccccaggatctcggctagg	14	13	3	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr10:48387918G>T	uc001jez.2	-	1	3074	c.2960C>A	c.(2959-2961)GCT>GAT	p.A987D		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	987	4 X approximate tandem repeats.|4.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	CTGCAGGTCAGCCCCCAGGAT	0.612													T	48387918	G	T	48387918	3	4	129	1	0	0	0	0	1	0	0	0	13157	971	34	5	799	5	RBP3	10	48387918	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	21531767	48387918	87146829	56	75971											
C10orf71	118461	broad.mit.edu	37	chr10	50530848	50530848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatttggagccagttaccGtcacagggcacggaacattc	12	11	1	0			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr10:50530848G>A	uc010qgp.1	+	3	597	c.258G>A	c.(256-258)CCG>CCA	p.P86P		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	86											0						GCCAGTTACCGTCACAGGGCA	0.572													A	50530848	G	A	50530848	2	1	129	1	0	0	0	0	0	0	0	1	1614	1132	40	1		1	C10orf71	10	50530848	Silent	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	2142930	50530848	85003899	57	75972											
COL13A1	1305	broad.mit.edu	37	chr10	71657242	71657242	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaaactaggagtgcctaagCagcatgccagcagctctgcg	11	13	1	0			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr10:71657242C>A	uc001jpr.1	+	12	1205	c.669C>A	c.(667-669)AGC>AGA	p.S223R	COL13A1_uc001jqj.1_Missense_Mutation_p.S223R|COL13A1_uc001jps.1_Missense_Mutation_p.S194R|COL13A1_uc001jpt.1_Intron|COL13A1_uc001jpu.1_Intron|COL13A1_uc001jpv.1_Missense_Mutation_p.S223R|COL13A1_uc001jpx.1_Missense_Mutation_p.S223R|COL13A1_uc001jpw.1_Intron|COL13A1_uc001jpy.1_Intron|COL13A1_uc001jpz.1_Intron|COL13A1_uc001jqa.1_Missense_Mutation_p.S185R|COL13A1_uc001jqc.1_Missense_Mutation_p.S223R|COL13A1_uc001jqb.1_Missense_Mutation_p.S194R|COL13A1_uc001jql.2_Missense_Mutation_p.S223R|COL13A1_uc001jqd.1_Missense_Mutation_p.S211R|COL13A1_uc001jqe.1_Missense_Mutation_p.S206R|COL13A1_uc001jqf.1_Intron|COL13A1_uc001jqg.1_Missense_Mutation_p.S223R|COL13A1_uc001jqh.1_Missense_Mutation_p.S223R|COL13A1_uc001jqi.1_Missense_Mutation_p.S223R|COL13A1_uc010qjf.1_Intron|COL13A1_uc001jqk.1_Missense_Mutation_p.S83R	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN	alpha 1 type XIII collagen isoform 1	223	Extracellular (Potential).|Nonhelical region 2 (NC2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)	AGTGCCTAAGCAGCATGCCAG	0.612													A	71657242	C	A	71657242	3	1	129	1	0	0	0	0	1	0	0	0	3670	709	25	5	719	5	COL13A1	10	71657242	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	21126394	71657242	63877505	58	75973											
MKI67	4288	broad.mit.edu	37	chr10	129899811	129899811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taggtatgggtttccgggctCcatcatctggattctgaatg	12	8	3	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr10:129899811C>T	uc001lke.2	-	14	9611	c.9416G>A	c.(9415-9417)GGA>GAA	p.G3139E	MKI67_uc001lkf.2_Missense_Mutation_p.G2779E	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	3139					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTCCGGGCTCCATCATCTGG	0.458													T	129899811	C	T	129899811	3	4	129	1	0	0	0	0	1	0	0	0	9598	855	30	4	362	4	MKI67	10	129899811	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	58242569	129899811	5634936	59	75974											
TRPM5	29850	broad.mit.edu	37	chr11	2435394	2435394	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccggcgcaccagcagggcgAaggcgcgggcctcactgttg	16	14	1	0			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr11:2435394A>G	uc001lwm.3	-	12	1796	c.1787T>C	c.(1786-1788)TTC>TCC	p.F596S	TRPM5_uc010qxl.1_Missense_Mutation_p.F596S|TRPM5_uc009ydn.2_Missense_Mutation_p.F598S	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	596	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CAGCAGGGCGAAGGCGCGGGC	0.706													G	2435394	A	G	2435394	3	3	129	1	0	0	0	0	1	0	0	0	16586	246	9	3	1762	3	TRPM5	11	2435394	Missense_Mutation	SNP	A	TCGA-BR-A4PF-01A-11D-A25D-08		2435394	132571122	60	75975											
TRIM68	55128	broad.mit.edu	37	chr11	4622295	4622295	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctctcttagccccagcacaCggcaatctgtcttcaactcc	5	17	5	0			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr11:4622295C>G	uc001lzf.1	-	6	1107	c.869G>C	c.(868-870)CGT>CCT	p.R290P	TRIM68_uc001lzg.1_Missense_Mutation_p.R67P|TRIM68_uc010qyj.1_RNA	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	ring finger protein 137	290	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCCCAGCACACGGCAATCTGT	0.552													G	4622295	C	G	4622295	3	3	129	1	0	0	0	0	1	0	0	0	16538	536	19	5	596	5	TRIM68	11	4622295	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	2186901	4622295	130384221	61	75976											
OR51D1	390038	broad.mit.edu	37	chr11	4661620	4661620	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccaagatattatgaagctGtcctgtactgacaccagggt	9	10	0	3			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr11:4661620G>T	uc010qyk.1	+	1	600	c.600G>T	c.(598-600)CTG>CTT	p.L200L		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D,	200	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTATGAAGCTGTCCTGTACTG	0.458													T	4661620	G	T	4661620	2	4	129	1	0	0	0	0	0	0	0	1	11093	1364	48	5		5	OR51D1	11	4661620	Silent	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	39325	4661620	130344896	62	75977											
OR51E1	143503	broad.mit.edu	37	chr11	4673886	4673886	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctaccttattgctgtgctaGgtaacttgacaatcatctac	6	10	3	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr11:4673886G>C	uc001lzi.3	+	2	274	c.130G>C	c.(130-132)GGT>CGT	p.G44R		NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|pancreas(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGTGCTAGGTAACTTGAC	0.468													C	4673886	G	C	4673886	3	2	129	1	0	0	0	0	1	0	0	0	11094	1000	35	5	132	5	OR51E1	11	4673886	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	12266	4673886	130332630	63	75978											
OR52R1	119695	broad.mit.edu	37	chr11	4824825	4824825	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggccaaagcggtaggtgagGaaagaaaaaagggctgggat	17	4	0	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr11:4824825G>T	uc010qym.1	-	1	1023	c.1023C>A	c.(1021-1023)TTC>TTA	p.F341L		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTAGGTGAGGAAAGAAAAAA	0.478													T	4824825	G	T	4824825	3	4	129	1	0	0	0	0	1	0	0	0	11131	1165	41	5	164	5	OR52R1	11	4824825	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	150939	4824825	130181691	64	75979											
DCHS1	8642	broad.mit.edu	37	chr11	6650775	6650775	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccagagaaaagctttcgctaGagacgcctccataagtcact	8	12	1	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr11:6650775G>C	uc001mem.1	-	12	5479	c.5069C>G	c.(5068-5070)TCT>TGT	p.S1690C		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1690	Cadherin 16.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTTTCGCTAGAGACGCCTCC	0.552													C	6650775	G	C	6650775	3	2	129	1	0	0	0	0	1	0	0	0	4287	942	33	5	4867	5	DCHS1	11	6650775	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	1825950	6650775	128355741	65	75980											
OR8J3	81168	broad.mit.edu	37	chr11	55904869	55904869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcatcattacctccgatAcaataaagaacaagaaccct	4	13	1	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr11:55904869A>G	uc010riz.1	-	1	326	c.326T>C	c.(325-327)GTA>GCA	p.V109A		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	109	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					TACCTCCGATACAATAAAGAA	0.473													G	55904869	A	G	55904869	3	3	129	1	0	0	0	0	1	0	0	0	11242	391	14	3	623	3	OR8J3	11	55904869	Missense_Mutation	SNP	A	TCGA-BR-A4PF-01A-11D-A25D-08	49254094	55904869	79101647	66	75981											
FGF3	2248	broad.mit.edu	37	chr11	69631105	69631105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgaagcatagagtcgtcCcctcttgttcatggccaggt	10	13	2	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr11:69631105C>T	uc001oph.2	-	2	798	c.307G>A	c.(307-309)GGA>AGA	p.G103R		NM_005247	NP_005238	P11487	FGF3_HUMAN	fibroblast growth factor 3 precursor	103					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			TAGAGTCGTCCCCTCTTGTTC	0.597													T	69631105	C	T	69631105	3	4	129	1	0	0	0	0	1	0	0	0	5853	632	22	4	420	4	FGF3	11	69631105	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	13726236	69631105	65375411	67	75982											
FUT4	2526	broad.mit.edu	37	chr11	94278513	94278513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggctcctgcacacagtggCccgctacaagttctacctgg	11	14	1	0			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr11:94278513C>T	uc001pez.2	+	1	1497	c.1214C>T	c.(1213-1215)GCC>GTC	p.A405V	PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.1_5'Flank	NM_002033	NP_002024	P22083	FUT4_HUMAN	fucosyltransferase 4	405	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			skin(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CACACAGTGGCCCGCTACAAG	0.637													T	94278513	C	T	94278513	3	4	129	1	0	0	0	0	1	0	0	0	6106	739	26	2	1216	2	FUT4	11	94278513	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	24647408	94278513	40728003	68	75983											
PIWIL4	143689	broad.mit.edu	37	chr11	94340624	94340624	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtaatgtgcattctgccttCtaatcagaagacctattatg	8	8	3	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr11:94340624C>A	uc001pfa.2	+	14	1869	c.1658C>A	c.(1657-1659)TCT>TAT	p.S553Y	PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	553	Piwi.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			skin(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATTCTGCCTTCTAATCAGAAG	0.363													A	94340624	C	A	94340624	3	1	129	1	0	0	0	0	1	0	0	0	11960	913	32	5	1712	5	PIWIL4	11	94340624	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	62111	94340624	40665892	69	75984											
DYNC2H1	79659	broad.mit.edu	37	chr11	103006490	103006490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccttttgaagaaatccGggctaaatattatagagaaa	8	8	0	3			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr11:103006490G>A	uc001pho.2	+	17	2531	c.2387G>A	c.(2386-2388)CGG>CAG	p.R796Q	DYNC2H1_uc001phn.1_Missense_Mutation_p.R796Q|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	796	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GAAGAAATCCGGGCTAAATAT	0.318													A	103006490	G	A	103006490	3	1	129	1	0	0	0	0	1	0	0	0	4846	1116	39	1	2453	1	DYNC2H1	11	103006490	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	8665866	103006490	32000026	70	75985											
CDON	50937	broad.mit.edu	37	chr11	125891265	125891265	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagagtcccctgatgaatcTtaacatgttccaggtttcca	7	11	2	3			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr11:125891265T>G	uc009zbw.2	-	3	355	c.227A>C	c.(226-228)AAG>ACG	p.K76T	CDON_uc001qdc.3_Missense_Mutation_p.K76T|CDON_uc001qdd.3_RNA|CDON_uc009zbx.2_Missense_Mutation_p.K76T	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	76	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CTGATGAATCTTAACATGTTC	0.468													G	125891265	T	G	125891265	3	3	129	1	0	0	0	0	1	0	0	0	3170	1609	56	5	3639	5	CDON	11	125891265	Missense_Mutation	SNP	T	TCGA-BR-A4PF-01A-11D-A25D-08	22884775	125891265	9115251	71	75986											
FAR2	55711	broad.mit.edu	37	chr12	29474774	29474774	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	taagaactgtttccatgttgGagtatttcatcaaccggagt	9	7	2	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr12:29474774G>C	uc001ris.3	+	10	1321	c.1174G>C	c.(1174-1176)GAG>CAG	p.E392Q	FAR2_uc001rit.2_Missense_Mutation_p.E392Q|FAR2_uc009zjm.2_Missense_Mutation_p.E295Q	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	392					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0						TTCCATGTTGGAGTATTTCAT	0.448													C	29474774	G	C	29474774	3	2	129	1	0	0	0	0	1	0	0	0	5675	1175	41	5	1208	5	FAR2	12	29474774	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08		29474774	104377121	72	75987											
CNTN1	1272	broad.mit.edu	37	chr12	41337868	41337868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaacgccaccatgcagtgtGctgcgtcctttgatcctgcc	9	14	0	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr12:41337868G>A	uc001rmm.1	+	14	1692	c.1579G>A	c.(1579-1581)GCT>ACT	p.A527T	CNTN1_uc009zjy.1_Missense_Mutation_p.A527T|CNTN1_uc001rmn.1_Missense_Mutation_p.A516T|CNTN1_uc001rmo.2_Missense_Mutation_p.A527T	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	527	Ig-like C2-type 6.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CATGCAGTGTGCTGCGTCCTT	0.388													A	41337868	G	A	41337868	3	1	129	1	0	0	0	0	1	0	0	0	3640	1319	46	2	1629	2	CNTN1	12	41337868	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	11863094	41337868	92514027	73	75988											
ANKRD52	283373	broad.mit.edu	37	chr12	56647085	56647085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcaccgggcggtatctgCgccattggtcatgagggtgc	15	11	3	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr12:56647085C>T	uc001skm.3	-	10	1177	c.1087G>A	c.(1087-1089)GCA>ACA	p.A363T		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	363	ANK 11.						protein binding			ovary(2)	2						GCGGTATCTGCGCCATTGGTC	0.572													T	56647085	C	T	56647085	3	4	129	1	0	0	0	0	1	0	0	0	678	768	27	1	2219	1	ANKRD52	12	56647085	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	15309217	56647085	77204810	74	75989											
GLIPR1L1	256710	broad.mit.edu	37	chr12	75728626	75728626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatagacaactgcatagaaGcccacaacgaatggcgtggc	10	10	0	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr12:75728626G>A	uc001sxo.2	+	1	164	c.118G>A	c.(118-120)GCC>ACC	p.A40T	CAPS2_uc001sxm.3_Intron|CAPS2_uc009zsa.2_Intron|GLIPR1L1_uc001sxn.2_Missense_Mutation_p.A40T	NM_152779	NP_689992	Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	40						extracellular region					0						CTGCATAGAAGCCCACAACGA	0.483											OREG0021998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	75728626	G	A	75728626	3	1	129	1	0	0	0	0	1	0	0	0	6442	971	34	2	120	2	GLIPR1L1	12	75728626	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	19081541	75728626	58123269	75	75990											
RAB35	11021	broad.mit.edu	37	chr12	120535069	120535069	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagcagcagcgtttctttcGtttactgttcttcgtgagct	9	9	2	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr12:120535069G>A	uc001txm.1	-	6	731	c.586C>T	c.(586-588)CGA>TGA	p.R196*	RAB35_uc010szg.1_Translation_Start_Site|RAB35_uc009zww.1_Translation_Start_Site|RAB35_uc010szh.1_3'UTR	NM_006861	NP_006852	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	196					cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		CGTTTCTTTCGTTTACTGTTC	0.577													A	120535069	G	A	120535069	4	1	129	1	0	0	0	0	0	1	0	0	12925	1153	40	1	23	1	RAB35	12	120535069	Nonsense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	44806443	120535069	13316826	76	75991											
FLT3	2322	broad.mit.edu	37	chr13	28608254	28608254	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttggaaactcccatttgAgatcatattcatattctctg	5	10	4	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr13:28608254A>G	uc001urw.2	-	14	1884	c.1802T>C	c.(1801-1803)CTC>CCC	p.L601P	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.L601P	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	601	Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.D600_L601insFREYEYD(7)|p.D600_L601ins17(4)|p.L601_K602insREYEYDL(4)|p.L601_K602ins27(4)|p.D600_L601ins26(4)|p.L601_K602ins21(3)|p.L601_K602ins24(2)|p.D600_L601>HVDFREYEYD(2)|p.D600_L601ins20(2)|p.L601_K602ins15(1)|p.L601_K602ins33(1)|p.D600_L601insRGYEYD(1)|p.600_601>PTSQVTGSSDNEYFYVDFREYEYD(1)|p.D600_L601insVDFREYEY(1)|p.L601_K602insIREYEYDL(1)|p.600_601>PRGFYVDFREYEYD(1)|p.L601_K602ins29(1)|p.L601_K602ins28(1)|p.L601_K602ins20(1)|p.L601_K602insEYEYDL(1)|p.D600_L601ins28(1)|p.D600_L601ins22(1)|p.D600_L601ins21(1)		haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTCCCATTTGAGATCATATTC	0.368			Mis|O		AML|ALL								G	28608254	A	G	28608254	3	3	129	1	0	0	0	0	1	0	0	0	5942	304	11	3	1223	3	FLT3	13	28608254	Missense_Mutation	SNP	A	TCGA-BR-A4PF-01A-11D-A25D-08		28608254	86561624	77	75992											
IPO5	3843	broad.mit.edu	37	chr13	98634835	98634835	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaatacaacagctgctgaaGaggtactaccttaatatttg	8	7	0	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr13:98634835G>A	uc001vnf.1	+	2	234	c.169G>A	c.(169-171)GAG>AAG	p.E57K	IPO5_uc001vne.2_Missense_Mutation_p.E75K|IPO5_uc010tik.1_Missense_Mutation_p.E57K|IPO5_uc010til.1_5'UTR	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	57	Importin N-terminal.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						AGCTGCTGAAGAGGTACTACC	0.333													A	98634835	G	A	98634835	3	1	129	1	0	0	0	0	1	0	0	0	7796	943	33	4	233	4	IPO5	13	98634835	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	70026581	98634835	16535043	78	75993											
FAM70B	348013	broad.mit.edu	37	chr13	114514841	114514841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctacgcacccacctactttCccccgggggagaagccaccc	9	19	0	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr13:114514841C>T	uc001vuh.2	+	9	973	c.946C>T	c.(946-948)CCC>TCC	p.P316S		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	316	Pro-rich.					integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			CACCTACTTTCCCCCGGGGGA	0.557													T	114514841	C	T	114514841	3	4	129	1	0	0	0	0	1	0	0	0	5606	855	30	4	980	4	FAM70B	13	114514841	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	15880006	114514841	655037	79	75994											
EFS	10278	broad.mit.edu	37	chr14	23828604	23828604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctgctgggtcatcctcCatctccctgccctctggatc	8	17	3	0			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr14:23828604C>T	uc001wjo.2	-	4	1691	c.1083G>A	c.(1081-1083)ATG>ATA	p.M361I	EFS_uc001wjp.2_Missense_Mutation_p.M268I|EFS_uc010tnm.1_Missense_Mutation_p.M192I	NM_005864	NP_005855	O43281	EFS_HUMAN	embryonal Fyn-associated substrate isoform 1	361			M -> I (in a colorectal cancer sample; somatic mutation).		cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	p.M361I(1)		large_intestine(1)	1	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGTCATCCTCCATCTCCCTGC	0.652													T	23828604	C	T	23828604	3	4	129	1	0	0	0	0	1	0	0	0	4959	594	21	4	614	4	EFS	14	23828604	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08		23828604	83520936	80	75995											
PRPF39	55015	broad.mit.edu	37	chr14	45578844	45578844	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagaccttactttcatgtgaAacctttggaaaaggcacaac	7	9	1	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr14:45578844A>T	uc001wvz.3	+	8	1207	c.1037A>T	c.(1036-1038)AAA>ATA	p.K346I	PRPF39_uc001wvy.3_Missense_Mutation_p.K225I|PRPF39_uc010and.2_Missense_Mutation_p.K136I|PRPF39_uc001wwa.1_5'Flank|SNORD127_uc010ane.2_5'Flank	NM_017922	NP_060392	Q86UA1	PRP39_HUMAN	PRP39 pre-mRNA processing factor 39 homolog	346	HAT 5.				mRNA processing|RNA splicing	nucleus	binding			ovary(1)|breast(1)	2						TTTCATGTGAAACCTTTGGAA	0.318													T	45578844	A	T	45578844	3	4	129	1	0	0	0	0	1	0	0	0	12569	14	1	5	1063	5	PRPF39	14	45578844	Missense_Mutation	SNP	A	TCGA-BR-A4PF-01A-11D-A25D-08	21750240	45578844	61770696	81	75996											
TRPM1	4308	broad.mit.edu	37	chr15	31334409	31334409	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcttcctcctttttcttcTttttctttttcttcccttta	0	13	5	0			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr15:31334409T>C	uc001zfm.2	-	16	1894	c.1766A>G	c.(1765-1767)AAG>AGG	p.K589R	TRPM1_uc010azy.2_Missense_Mutation_p.K496R|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	589	Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ctttttcttctttttcttttt	0.413													C	31334409	T	C	31334409	3	2	129	1	0	0	0	0	1	0	0	0	16582	1609	56	3	3093	3	TRPM1	15	31334409	Missense_Mutation	SNP	T	TCGA-BR-A4PF-01A-11D-A25D-08		31334409	71196983	82	75997											
SEMA6D	80031	broad.mit.edu	37	chr15	48056166	48056166	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgttctgtccctggagaTtcgtttttctactttgatgt	8	8	2	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr15:48056166T>C	uc010bek.2	+	10	1227	c.867T>C	c.(865-867)GAT>GAC	p.D289D	SEMA6D_uc001zvw.2_Silent_p.D289D|SEMA6D_uc001zvx.1_Silent_p.D289D|SEMA6D_uc001zvy.2_Silent_p.D289D|SEMA6D_uc001zvz.2_Silent_p.D289D|SEMA6D_uc001zwa.2_Silent_p.D289D|SEMA6D_uc001zwb.2_Silent_p.D289D|SEMA6D_uc001zwc.2_Silent_p.D289D	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	289	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCCCTGGAGATTCGTTTTTCT	0.473													C	48056166	T	C	48056166	2	2	129	1	0	0	0	0	0	0	0	1	14042	1490	52	3		3	SEMA6D	15	48056166	Silent	SNP	T	TCGA-BR-A4PF-01A-11D-A25D-08	16721757	48056166	54475226	83	75998											
SHC4	399694	broad.mit.edu	37	chr15	49255112	49255112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacgtgatcgactcgttcCgaaagcggctgtacttggcc	13	11	0	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr15:49255112C>T	uc001zxb.1	-	1	530	c.101G>A	c.(100-102)CGG>CAG	p.R34Q		NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	rai-like protein	34	CH2.				intracellular signal transduction	cell junction|postsynaptic membrane				ovary(3)|pancreas(2)	5		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CGACTCGTTCCGAAAGCGGCT	0.657													T	49255112	C	T	49255112	3	4	129	1	0	0	0	0	1	0	0	0	14273	652	23	1	1839	1	SHC4	15	49255112	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	1198946	49255112	53276280	84	75999											
C15orf27	123591	broad.mit.edu	37	chr15	76430152	76430152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtgaactttgcctatcGggacttgcccctggctgctg	13	12	0	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr15:76430152G>A	uc002bbq.2	+	3	298	c.143G>A	c.(142-144)CGG>CAG	p.R48Q	C15orf27_uc010bkp.2_5'UTR|C15orf27_uc002bbr.2_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	hypothetical protein LOC123591	48						integral to membrane					0						TTTGCCTATCGGGACTTGCCC	0.527													A	76430152	G	A	76430152	3	1	129	1	0	0	0	0	1	0	0	0	1788	1116	39	1	149	1	C15orf27	15	76430152	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	27175040	76430152	26101240	85	76000											
NKD1	85407	broad.mit.edu	37	chr16	50667166	50667166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaatcccactcgatctcGctcccatgagccggaagcca	7	18	1	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr16:50667166G>A	uc002egg.1	+	10	1111	c.887G>A	c.(886-888)CGC>CAC	p.R296H		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	naked cuticle homolog 1	296					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding				0		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		ACTCGATCTCGCTCCCATGAG	0.542													A	50667166	G	A	50667166	3	1	129	1	0	0	0	0	1	0	0	0	10441	1087	38	1	925	1	NKD1	16	50667166	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08		50667166	39687587	86	76001											
COQ9	57017	broad.mit.edu	37	chr16	57481420	57481422	+	In_Frame_Del	DEL	GGC	GGC	-													gacgtgcccgcttccaaaatGgcggcggcggcggtatctgg							TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr16:57481420_57481422delGGC	uc002elq.2	+	1	19_21	c.3_5delGGC	c.(1-6)ATGGCG>ATG	p.A5del	CIAPIN1_uc002ell.1_5'Flank|CIAPIN1_uc002elm.1_5'Flank|CIAPIN1_uc002eln.1_5'Flank|CIAPIN1_uc010cda.1_5'Flank|CIAPIN1_uc002elo.1_5'Flank|COQ9_uc002elp.1_In_Frame_Del_p.A5del|COQ9_uc010vhn.1_In_Frame_Del_p.A5del|COQ9_uc010vho.1_In_Frame_Del_p.A5del|COQ9_uc010vhp.1_In_Frame_Del_p.A5del|COQ9_uc002elr.2_In_Frame_Del_p.A5del	NM_020312	NP_064708	O75208	COQ9_HUMAN	coenzyme Q9 homolog precursor	5					ubiquinone biosynthetic process	mitochondrion				breast(1)	1						CTTCCAAAATGGCGGCGGCGGCG	0.729													-	57481422	GGC	-	57481420	7	5	129	1	0	1	0	1	0	0	0	0	3751	1348	47	0	5	0	COQ9	16	57481420	In_Frame_Del	DEL	GGC	TCGA-BR-A4PF-01A-11D-A25D-08	6814254	57481420	32873333	87	76002											
SLC38A8	146167	broad.mit.edu	37	chr16	84075604	84075604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaaggcagggaccactccGcccgctttggagaaggccca	14	13	0	1	rs147597105	byFrequency	TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr16:84075604G>A	uc002fhg.1	-	1	159	c.159C>T	c.(157-159)GGC>GGT	p.G53G		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	53					amino acid transport|sodium ion transport	integral to membrane					0						GGACCACTCCGCCCGCTTTGG	0.632													A	84075604	G	A	84075604	2	1	129	1	0	0	0	0	0	0	0	1	14610	1074	38	1		1	SLC38A8	16	84075604	Silent	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	26594184	84075604	6279149	88	76003											
SLC43A2	124935	broad.mit.edu	37	chr17	1494653	1494653	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccacctgctccttggcacTcctcatggagctgcccacac	8	19	1	0			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr17:1494653T>C	uc002fsv.2	-	8	930	c.841A>G	c.(841-843)AGT>GGT	p.S281G	SLC43A2_uc002fsu.2_Missense_Mutation_p.S281G|SLC43A2_uc002fsw.2_Missense_Mutation_p.S281G|SLC43A2_uc002fsx.2_Missense_Mutation_p.S281G|SLC43A2_uc010vqo.1_Missense_Mutation_p.S144G	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	solute carrier family 43, member 2	281					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TCCTTGGCACTCCTCATGGAG	0.642													C	1494653	T	C	1494653	3	2	129	1	0	0	0	0	1	0	0	0	14633	1551	54	3	896	3	SLC43A2	17	1494653	Missense_Mutation	SNP	T	TCGA-BR-A4PF-01A-11D-A25D-08		1494653	79700557	89	76004											
ALOX15	246	broad.mit.edu	37	chr17	4535309	4535309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggttggcgggggcagccGcatcgtgcagggtgcattag	20	8	0	0			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr17:4535309G>A	uc002fyh.2	-	13	1698	c.1684C>T	c.(1684-1686)CGG>TGG	p.R562W	ALOX15_uc010vsd.1_Missense_Mutation_p.R523W|ALOX15_uc010vse.1_Missense_Mutation_p.R584W	NM_001140	NP_001131	P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	562	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			skin(3)|ovary(1)|lung(1)	5				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GGGGGCAGCCGCATCGTGCAG	0.607													A	4535309	G	A	4535309	3	1	129	1	0	0	0	0	1	0	0	0	538	1086	38	1	312	1	ALOX15	17	4535309	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	3040656	4535309	76659901	90	76005											
TP53	7157	broad.mit.edu	37	chr17	7579442	7579442	+	Frame_Shift_Del	DEL	G	G	-													gggctggtgcaggggccgccGgtgtaggagctgctggtgca							TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr17:7579442delG	uc002gim.2	-	4	439	c.245delC	c.(244-246)CCGfs	p.P82fs	TP53_uc002gig.1_Frame_Shift_Del_p.P82fs|TP53_uc002gih.2_Frame_Shift_Del_p.P82fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P82fs|TP53_uc010cni.1_Frame_Shift_Del_p.P82fs|TP53_uc002gij.2_Frame_Shift_Del_p.P82fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.P43fs|TP53_uc010cnk.1_Frame_Shift_Del_p.P97fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	82	Interaction with WWOX.|Interaction with HRMT1L2.		P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.P82L(5)|p.A76_S90del15(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.D48fs*55(1)|p.A79_A88del10(1)|p.P82fs*43(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.P82fs*67(1)|p.P82P(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGGGCCGCCGGTGTAGGAGC	0.607		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			-	7579442	G	-	7579442	7	5	129	1	0	1	0	1	0	0	0	0	16378	1116	39	0	1057	0	TP53	17	7579442	Frame_Shift_Del	DEL	G	TCGA-BR-A4PF-01A-11D-A25D-08	3044133	7579442	73615768	91	76006											
WSB1	26118	broad.mit.edu	37	chr17	25628925	25628925	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agatggttcatactttgcttGgtcacaaggacatcgcacag	10	9	2	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr17:25628925G>C	uc002gzd.1	+	2	468	c.152G>C	c.(151-153)TGG>TCG	p.W51S	WSB1_uc010vzy.1_Missense_Mutation_p.W51S|WSB1_uc010vzz.1_Missense_Mutation_p.W20S|WSB1_uc010crf.1_Intron|WSB1_uc002gze.1_Intron|WSB1_uc002gzf.1_RNA	NM_015626	NP_056441	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box-containing 1 isoform 1	51	WD 1.				intracellular signal transduction	intracellular	protein binding				0	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TACTTTGCTTGGTCACAAGGA	0.418													C	25628925	G	C	25628925	3	2	129	1	0	0	0	0	1	0	0	0	17401	1357	47	5	158	5	WSB1	17	25628925	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	18049483	25628925	55566285	92	76007											
ZACN	353174	broad.mit.edu	37	chr17	74075792	74075792	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcccccaggacatcctgCgatacacaatgtcctccatg	6	17	0	0	rs140302218	byFrequency	TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr17:74075792C>T	uc002jqn.2	+	3	315	c.232C>T	c.(232-234)CGA>TGA	p.R78*	ZACN_uc002jqo.2_RNA|ZACN_uc010dgu.2_Intron	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	78	Extracellular (Potential).				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity				0						GGACATCCTGCGATACACAAT	0.582													T	74075792	C	T	74075792	4	4	129	1	0	0	0	0	0	1	0	0	17507	760	27	1	242	1	ZACN	17	74075792	Nonsense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	48446867	74075792	7119418	93	76008											
CCDC102B	79839	broad.mit.edu	37	chr18	66504246	66504246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggagcttgaagaagtcaaGgccagagctgctcagatgga	15	8	2	4			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr18:66504246G>A	uc002lkk.2	+	4	469	c.246G>A	c.(244-246)AAG>AAA	p.K82K	CCDC102B_uc002lki.2_Silent_p.K82K|CCDC102B_uc002lkj.1_Silent_p.K82K	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	82	Potential.									ovary(1)|lung(1)|skin(1)	3		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AAGAAGTCAAGGCCAGAGCTG	0.473													A	66504246	G	A	66504246	2	1	129	1	0	0	0	0	0	0	0	1	2737	991	35	4		4	CCDC102B	18	66504246	Silent	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08		66504246	11573002	94	76009											
NETO1	81832	broad.mit.edu	37	chr18	70417353	70417353	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggtggtcggcacctcttcGatttcatctatgtcacaggc	10	12	4	0			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr18:70417353G>A	uc002lkw.2	-	9	1769	c.1485C>T	c.(1483-1485)ATC>ATT	p.I495I	NETO1_uc002lkx.1_Silent_p.I494I|NETO1_uc002lky.1_Silent_p.I495I	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	495	Cytoplasmic (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GCACCTCTTCGATTTCATCTA	0.468													A	70417353	G	A	70417353	2	1	129	1	0	0	0	0	0	0	0	1	10339	1048	37	1		1	NETO1	18	70417353	Silent	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	3913107	70417353	7659895	95	76010											
GNG7	2788	broad.mit.edu	37	chr19	2515092	2515092	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actccgaccagcagggggtcGttccgggcatgttgctcaca	13	13	1	0			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr19:2515092G>T	uc002lwd.2	-	5	372	c.135C>A	c.(133-135)AAC>AAA	p.N45K	GNG7_uc010dte.1_Intron	NM_052847	NP_443079	O60262	GBG7_HUMAN	guanine nucleotide binding protein (G protein),	45					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGGGGTCGTTCCGGGCAT	0.408													T	2515092	G	T	2515092	3	4	129	1	0	0	0	0	1	0	0	0	6531	1136	40	5	75	5	GNG7	19	2515092	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08		2515092	56613891	96	76011											
PGLYRP2	114770	broad.mit.edu	37	chr19	15582872	15582872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggcggccccgataaggcGccgctccccagcggcagcgg	16	17	0	0			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr19:15582872G>A	uc002nbf.3	-	3	1305	c.1172C>T	c.(1171-1173)GCG>GTG	p.A391V	PGLYRP2_uc002nbg.3_Missense_Mutation_p.A391V	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	391					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)	3						CCGATAAGGCGCCGCTCCCCA	0.662													A	15582872	G	A	15582872	3	1	129	1	0	0	0	0	1	0	0	0	11794	1087	38	1	570	1	PGLYRP2	19	15582872	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	13067780	15582872	43546111	97	76012											
C19orf47	126526	broad.mit.edu	37	chr19	40829971	40829971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggcggtcaaacacagacGtcctatggagacctgggagg	15	10	1	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr19:40829971G>A	uc002oni.3	-	8	717	c.716C>T	c.(715-717)ACG>ATG	p.T239M	C19orf47_uc002ong.2_Missense_Mutation_p.T98M|C19orf47_uc002onh.2_Missense_Mutation_p.T172M	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	hypothetical protein LOC126526	239										ovary(1)|skin(1)	2			Lung(22;0.000636)			AAACACAGACGTCCTATGGAG	0.627													A	40829971	G	A	40829971	3	1	129	1	0	0	0	0	1	0	0	0	1930	1145	40	1	560	1	C19orf47	19	40829971	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	25247099	40829971	18299012	98	76013											
CYP2A13	1553	broad.mit.edu	37	chr19	41596049	41596049	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagcgcggcatcgaggaAcgcatccaggaggaggcggg	19	10	0	0	rs149580014		TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr19:41596049A>T	uc002opt.2	+	3	450	c.441A>T	c.(439-441)GAA>GAT	p.E147D		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A,	147					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			ovary(2)|skin(1)	3					Clomipramine(DB01242)|Nicotine(DB00184)	GCATCGAGGAACGCATCCAGG	0.697													T	41596049	A	T	41596049	3	4	129	1	0	0	0	0	1	0	0	0	4161	40	2	5	451	5	CYP2A13	19	41596049	Missense_Mutation	SNP	A	TCGA-BR-A4PF-01A-11D-A25D-08	766078	41596049	17532934	99	76014											
DHX34	9704	broad.mit.edu	37	chr19	47858523	47858523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaggtcatcctcatgtcGgccaccatcaacatctcgct	6	16	5	0	rs150145021	byFrequency	TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr19:47858523G>A	uc010xyn.1	+	3	1274	c.933G>A	c.(931-933)TCG>TCA	p.S311S	DHX34_uc010elc.1_Silent_p.S311S	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	311	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TCCTCATGTCGGCCACCATCA	0.587													A	47858523	G	A	47858523	2	1	129	1	0	0	0	0	0	0	0	1	4507	1103	39	1		1	DHX34	19	47858523	Silent	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	6262474	47858523	11270460	100	76015											
ZNF584	201514	broad.mit.edu	37	chr19	58928789	58928789	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaggccctatgagtgtacaGaatgtgggaagttctttaaa	11	5	1	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr19:58928789G>T	uc002qsp.2	+	4	1356	c.904G>T	c.(904-906)GAA>TAA	p.E302*	ZNF584_uc010yia.1_RNA|ZNF584_uc002qsr.2_Nonsense_Mutation_p.E257*|ZNF584_uc010yib.1_3'UTR	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	302	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		TGAGTGTACAGAATGTGGGAA	0.443													T	58928789	G	T	58928789	4	4	129	1	0	0	0	0	0	1	0	0	18013	943	33	5	918	5	ZNF584	19	58928789	Nonsense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	11070266	58928789	200194	101	76016											
ZNF584	201514	broad.mit.edu	37	chr19	58929002	58929002	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatcctaccgcaatcggcacCagcagttccacactgaagag	9	14	0	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr19:58929002C>A	uc002qsp.2	+	4	1569	c.1117C>A	c.(1117-1119)CAG>AAG	p.Q373K	ZNF584_uc010yia.1_RNA|ZNF584_uc002qsr.2_Missense_Mutation_p.Q328K|ZNF584_uc010yib.1_3'UTR	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	373	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		CAATCGGCACCAGCAGTTCCA	0.507													A	58929002	C	A	58929002	3	1	129	1	0	0	0	0	1	0	0	0	18013	595	21	5	1131	5	ZNF584	19	58929002	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08	213	58929002	199981	102	76017											
SLC23A2	9962	broad.mit.edu	37	chr20	4843508	4843508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcccgatcatgcccagagCgagcatgagggctgctccgc	12	15	1	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr20:4843508C>T	uc002wlg.1	-	14	1777	c.1402G>A	c.(1402-1404)GCT>ACT	p.A468T	SLC23A2_uc010zqr.1_Missense_Mutation_p.A353T|SLC23A2_uc002wlh.1_Missense_Mutation_p.A468T	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	468	Helical; (Potential).				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2						ATGCCCAGAGCGAGCATGAGG	0.597													T	4843508	C	T	4843508	3	4	129	1	0	0	0	0	1	0	0	0	14463	768	27	1	566	1	SLC23A2	20	4843508	Missense_Mutation	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08		4843508	58182012	103	76018											
KIF3B	9371	broad.mit.edu	37	chr20	30897661	30897661	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaggaaaaggctgcttcGtatgacaaagtggtggatgt	15	5	0	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr20:30897661G>A	uc002wxq.2	+	2	248	c.81G>A	c.(79-81)TCG>TCA	p.S27S	KIF3B_uc010ztv.1_Silent_p.S27S|KIF3B_uc010ztw.1_Silent_p.S27S	NM_004798	NP_004789	O15066	KIF3B_HUMAN	kinesin family member 3B	27	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			central_nervous_system(3)|ovary(2)	5			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGGCTGCTTCGTATGACAAAG	0.507													A	30897661	G	A	30897661	2	1	129	1	0	0	0	0	0	0	0	1	8301	1132	40	1		1	KIF3B	20	30897661	Silent	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	26054153	30897661	32127859	104	76019											
CASS4	57091	broad.mit.edu	37	chr20	55033575	55033575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcaagctggtcatcatGgtgggacagaagctggtgga	16	7	2	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr20:55033575G>A	uc002xxp.2	+	7	2358	c.2133G>A	c.(2131-2133)ATG>ATA	p.M711I	CASS4_uc002xxr.2_Missense_Mutation_p.M711I|CASS4_uc010zze.1_Missense_Mutation_p.M657I|CASS4_uc010gio.2_Missense_Mutation_p.M274I	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	711					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						TGGTCATCATGGTGGGACAGA	0.602													A	55033575	G	A	55033575	3	1	129	1	0	0	0	0	1	0	0	0	2683	1348	47	4	2155	4	CASS4	20	55033575	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	24135914	55033575	7991945	105	76020											
LAMA5	3911	broad.mit.edu	37	chr20	60909261	60909261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggacaggtgccatctgcGcgtagcccctccagctgaag	12	15	1	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chr20:60909261G>A	uc002ycq.2	-	22	2787	c.2720C>T	c.(2719-2721)GCG>GTG	p.A907V		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	907	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCCATCTGCGCGTAGCCCCT	0.682													A	60909261	G	A	60909261	3	1	129	1	0	0	0	0	1	0	0	0	8609	1087	38	1	8603	1	LAMA5	20	60909261	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	5875686	60909261	2116259	106	76021											
FAM9B	171483	broad.mit.edu	37	chrX	8998322	8998322	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttttaagttgcttttttctCaaagcatgtttacttttgtt	5	6	1	0			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chrX:8998322C>T	uc011mhu.1	-	4	350	c.261G>A	c.(259-261)TTG>TTA	p.L87L	FAM9B_uc011mhv.1_RNA|FAM9B_uc004csh.2_Intron	NM_205849	NP_995321	Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	87						nucleus					0		Hepatocellular(5;0.219)				GCTTTTTTCTCAAAGCATGTT	0.279													T	8998322	C	T	8998322	2	4	129	1	0	0	0	0	0	0	0	1	5660	825	29	4		4	FAM9B	23	8998322	Silent	SNP	C	TCGA-BR-A4PF-01A-11D-A25D-08		8998322	146272238	107	76022											
CNKSR2	22866	broad.mit.edu	37	chrX	21667117	21667117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgaatgaaaaactacaccGgctgagaattctcaaaagca	7	8	1	3			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chrX:21667117G>A	uc004czx.1	+	21	2897	c.2861G>A	c.(2860-2862)CGG>CAG	p.R954Q	CNKSR2_uc011mjo.1_Missense_Mutation_p.R924Q	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	954					regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						AAACTACACCGGCTGAGAATT	0.343													A	21667117	G	A	21667117	3	1	129	1	0	0	0	0	1	0	0	0	3607	1116	39	1	2952	1	CNKSR2	23	21667117	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	12668795	21667117	133603443	108	76023											
PCDH11X	27328	broad.mit.edu	37	chrX	91090690	91090690	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgacaactgctatgcagTtcaagctagtgtacaagacc	8	11	1	2			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chrX:91090690T>G	uc004efk.1	+	1	1032	c.187T>G	c.(187-189)TTC>GTC	p.F63V	PCDH11X_uc004efl.1_Missense_Mutation_p.F63V|PCDH11X_uc004efo.1_Missense_Mutation_p.F63V|PCDH11X_uc010nmv.1_Missense_Mutation_p.F63V|PCDH11X_uc004efm.1_Missense_Mutation_p.F63V|PCDH11X_uc004efn.1_Missense_Mutation_p.F63V|PCDH11X_uc004efh.1_Missense_Mutation_p.F63V|PCDH11X_uc004efj.1_Missense_Mutation_p.F63V	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	63	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						TGCTATGCAGTTCAAGCTAGT	0.453													G	91090690	T	G	91090690	3	3	129	1	0	0	0	0	1	0	0	0	11508	1725	60	5	189	5	PCDH11X	23	91090690	Missense_Mutation	SNP	T	TCGA-BR-A4PF-01A-11D-A25D-08	69423573	91090690	64179870	109	76024											
TEX13B	56156	broad.mit.edu	37	chrX	107224569	107224569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaatttgcctgctacaataGctccgaggggctgcctgaag	12	10	0	1			TCGA-BR-A4PF-01A-11D-A25D-08	TCGA-BR-A4PF-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c76e84-85ce-4f2a-b6af-cd7c54621eac	76a41921-d5cb-4385-9294-760aeeae29c2	g.chrX:107224569G>A	uc004enn.1	-	3	773	c.680C>T	c.(679-681)GCT>GTT	p.A227V		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	testis expressed 13B	227										ovary(1)	1						TGCTACAATAGCTCCGAGGGG	0.587													A	107224569	G	A	107224569	3	1	129	1	0	0	0	0	1	0	0	0	15774	971	34	2	262	2	TEX13B	23	107224569	Missense_Mutation	SNP	G	TCGA-BR-A4PF-01A-11D-A25D-08	16133879	107224569	48045991	110	76025											
AJAP1	55966	broad.mit.edu	37	chr1	4832493	4832493	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgagaccctgcagtgttcTcacgagtgcgtcagggcatc	12	12	2	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:4832493T>C	uc001alm.1	+	4	1452	c.1071T>C	c.(1069-1071)TCT>TCC	p.S357S	AJAP1_uc001aln.2_Silent_p.S357S	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	357	Targeting signals.|Cytoplasmic (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TGCAGTGTTCTCACGAGTGCG	0.587													C	4832493	T	C	4832493	2	2	130	1	0	0	0	0	0	0	0	1	438	1538	54	3		3	AJAP1	1	4832493	Silent	SNP	T	TCGA-BR-A4QI-01A-12D-A25D-08		4832493	244418128	1	76026											
TNFRSF9	3604	broad.mit.edu	37	chr1	7993258	7993258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagtttctttctgccccGtttaacaacagagaaacgga	9	10	2	1	rs143524950		TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:7993258G>A	uc001aot.2	-	7	771	c.643C>T	c.(643-645)CGG>TGG	p.R215W		NM_001561	NP_001552	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily,	215	Cytoplasmic (Potential).|Interaction with LRR-1.				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCTGCCCCGTTTAACAACA	0.428													A	7993258	G	A	7993258	3	1	130	1	0	0	0	0	1	0	0	0	16297	1144	40	1	132	1	TNFRSF9	1	7993258	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	3160765	7993258	241257363	2	76027											
VPS13D	55187	broad.mit.edu	37	chr1	12317070	12317070	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	taccggcaaatcatggaattCctcaaggagctggaacgaaa	10	9	2	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:12317070C>A	uc001atv.2	+	9	1008	c.867C>A	c.(865-867)TTC>TTA	p.F289L	VPS13D_uc001atw.2_Missense_Mutation_p.F289L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	289					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCATGGAATTCCTCAAGGAGC	0.423													A	12317070	C	A	12317070	3	1	130	1	0	0	0	0	1	0	0	0	17189	854	30	5	897	5	VPS13D	1	12317070	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	4323812	12317070	236933551	3	76028											
UBR4	23352	broad.mit.edu	37	chr1	19465681	19465681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagggtagaaccatctgtcGctgctgtactgccctcgtcg	12	12	1	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:19465681G>A	uc001bbi.2	-	59	8631	c.8627C>T	c.(8626-8628)GCG>GTG	p.A2876V	UBR4_uc001bbk.1_Missense_Mutation_p.A523V	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2876					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACCATCTGTCGCTGCTGTACT	0.498													A	19465681	G	A	19465681	3	1	130	1	0	0	0	0	1	0	0	0	16901	1087	38	1	7116	1	UBR4	1	19465681	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	7148611	19465681	229784940	4	76029											
WNT4	54361	broad.mit.edu	37	chr1	22446680	22446680	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcggccacagcacagcagctCacagccgtcgatggccttgg	13	15	1	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:22446680C>G	uc001bfs.3	-	5	1023	c.919G>C	c.(919-921)GAG>CAG	p.E307Q	WNT4_uc010odt.1_Missense_Mutation_p.E244Q	NM_030761	NP_110388	P56705	WNT4_HUMAN	wingless-type MMTV integration site family,	307					adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity			ovary(1)	1		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CACAGCAGCTCACAGCCGTCG	0.652													G	22446680	C	G	22446680	3	3	130	1	0	0	0	0	1	0	0	0	17387	835	29	5	140	5	WNT4	1	22446680	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	2980999	22446680	226803941	5	76030											
STK40	83931	broad.mit.edu	37	chr1	36826900	36826900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttggccctggccgacgtttCcccagctcctctgtctgatg	10	16	2	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:36826900C>T	uc001cak.1	-	3	441	c.34G>A	c.(34-36)GAA>AAA	p.E12K	STK40_uc001cal.1_Missense_Mutation_p.E12K|STK40_uc001cam.1_Missense_Mutation_p.E12K|STK40_uc009vva.1_Missense_Mutation_p.E12K|STK40_uc001can.1_Missense_Mutation_p.E12K	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	12						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1		Myeloproliferative disorder(586;0.0393)				GCCGACGTTTCCCCAGCTCCT	0.498													T	36826900	C	T	36826900	3	4	130	1	0	0	0	0	1	0	0	0	15306	864	30	4	1313	4	STK40	1	36826900	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	14380220	36826900	212423721	6	76031											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	76779556	76779564	+	In_Frame_Del	DEL	AATGAAGTG	AATGAAGTG	-													tgctggttgtgcgtcttgtaAatgaagtgaatttcccattg							TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:76779555_76779563AAATGAAGTG>A	uc001dhh.2	+	1	247_255	c.84_92AAATGAAGTG>A	c.(82-93)gtaaatgaagtg>gtAg	p.28_31VNEV>V	ST6GALNAC3_uc001dhg.4_In_Frame_Del_p.28_31VNEV>V|ST6GALNAC3_uc010orh.1_Intron	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.	28					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.V28I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TGCGTCTTGTAAATGAAGTGAATTTCCCA	0.416													-	76779564	AATGAAGTG	-	76779556	7	5	130	1	0	1	0	1	0	0	0	0	15224	14	1	0	91	0	ST6GALNAC3	1	76779556	In_Frame_Del	DEL	AATGAAGTG	TCGA-BR-A4QI-01A-12D-A25D-08	39952656	76779556	172471065	7	76032											
SLC44A3	126969	broad.mit.edu	37	chr1	95330312	95330312	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tttccagaagtaaaaatgatCctcctgatcatcccatcctt	4	12	1	3			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:95330312C>G	uc001dqv.3	+	11	1359	c.1252C>G	c.(1252-1254)CCT>GCT	p.P418A	SLC44A3_uc001dqx.3_Missense_Mutation_p.P418A|SLC44A3_uc010otq.1_Missense_Mutation_p.P350A|SLC44A3_uc010otr.1_Missense_Mutation_p.P382A|SLC44A3_uc001dqw.3_Missense_Mutation_p.P370A|SLC44A3_uc010ots.1_Missense_Mutation_p.P338A|SLC44A3_uc009wds.2_Missense_Mutation_p.P321A|SLC44A3_uc010ott.1_Missense_Mutation_p.P338A|SLC44A3_uc010otu.1_RNA	NM_001114106	NP_001107578	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3 isoform 1	418						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)	1		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TAAAAATGATCCTCCTGATCA	0.393													G	95330312	C	G	95330312	3	3	130	1	0	0	0	0	1	0	0	0	14637	855	30	5	1294	5	SLC44A3	1	95330312	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	18550756	95330312	153920309	8	76033											
STXBP3	6814	broad.mit.edu	37	chr1	109336246	109336246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgatgaaaaagatgcccCatttccgaaaacagattact	7	9	0	4			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:109336246C>T	uc001dvy.2	+	12	1081	c.1006C>T	c.(1006-1008)CAT>TAT	p.H336Y	STXBP3_uc001dvz.2_RNA	NM_007269	NP_009200	O00186	STXB3_HUMAN	syntaxin binding protein 3	336					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			ovary(3)|central_nervous_system(1)	4		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		AAAGATGCCCCATTTCCGAAA	0.299													T	109336246	C	T	109336246	3	4	130	1	0	0	0	0	1	0	0	0	15353	594	21	4	1052	4	STXBP3	1	109336246	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	14005934	109336246	139914375	9	76034											
HRNR	388697	broad.mit.edu	37	chr1	152192292	152192292	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccatgggtagaggaatgacCcgagctagatccgtgttgac	13	10	0	4			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:152192292C>G	uc001ezt.1	-	3	1889	c.1813G>C	c.(1813-1815)GGT>CGT	p.G605R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	605	6.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAATGACCCGAGCTAGAT	0.557													G	152192292	C	G	152192292	3	3	130	1	0	0	0	0	1	0	0	0	7359	623	22	5	6743	5	HRNR	1	152192292	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	42856046	152192292	97058329	10	76035											
CD1C	911	broad.mit.edu	37	chr1	158261017	158261017	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggctcaggatggctggacgAgttgcagactcatggctggg	18	8	2	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:158261017A>T	uc001fru.2	+	2	447	c.155A>T	c.(154-156)GAG>GTG	p.E52V	CD1C_uc001frv.2_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	52	Extracellular (Potential).				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					TGGCTGGACGAGTTGCAGACT	0.502													T	158261017	A	T	158261017	3	4	130	1	0	0	0	0	1	0	0	0	2976	304	11	5	161	5	CD1C	1	158261017	Missense_Mutation	SNP	A	TCGA-BR-A4QI-01A-12D-A25D-08	6068725	158261017	90989604	11	76036											
OR10K2	391107	broad.mit.edu	37	chr1	158390365	158390365	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaggaaaacatttggatggCacagcccaggaaagaaatgg	13	6	0	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:158390365C>A	uc010pii.1	-	1	292	c.292G>T	c.(292-294)GCC>TCC	p.A98S		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	98	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					ATTTGGATGGCACAGCCCAGG	0.488													A	158390365	C	A	158390365	3	1	130	1	0	0	0	0	1	0	0	0	10914	710	25	5	648	5	OR10K2	1	158390365	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	129348	158390365	90860256	12	76037											
OR6N1	128372	broad.mit.edu	37	chr1	158736147	158736147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggagatagcactcagtcGctccaagggagtgaaagaaa	12	8	2	3			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:158736147G>A	uc010piq.1	-	1	326	c.326C>T	c.(325-327)GCG>GTG	p.A109V		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	109	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					GCACTCAGTCGCTCCAAGGGA	0.507													A	158736147	G	A	158736147	3	1	130	1	0	0	0	0	1	0	0	0	11206	1087	38	1	615	1	OR6N1	1	158736147	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	345782	158736147	90514474	13	76038											
PVRL4	81607	broad.mit.edu	37	chr1	161049643	161049643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacttgccccacttgctcgCcggagtcccctcggtagaag	10	17	0	1	rs142201196		TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:161049643C>T	uc001fxo.2	-	2	475	c.176G>A	c.(175-177)GGC>GAC	p.G59D		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	59	Ig-like V-type 1.|Extracellular (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CACTTGCTCGCCGGAGTCCCC	0.662													T	161049643	C	T	161049643	3	4	130	1	0	0	0	0	1	0	0	0	12842	739	26	2	1388	2	PVRL4	1	161049643	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	2313496	161049643	88200978	14	76039											
LRRC52	440699	broad.mit.edu	37	chr1	165514100	165514100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaacccctggaagtgcaaCtgctctttcctggacttcgc	10	13	1	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:165514100C>T	uc001gde.2	+	1	623	c.567C>T	c.(565-567)AAC>AAT	p.N189N	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	189	Extracellular (Potential).|LRRCT.					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GGAAGTGCAACTGCTCTTTCC	0.517													T	165514100	C	T	165514100	2	4	130	1	0	0	0	0	0	0	0	1	9010	564	20	4		4	LRRC52	1	165514100	Silent	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	4464457	165514100	83736521	15	76040											
SCYL3	57147	broad.mit.edu	37	chr1	169823652	169823652	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaccttaaggggcctttctTgtgatgacacttttggcggc	12	9	1	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:169823652T>G	uc001ggs.2	-	13	2126	c.1928A>C	c.(1927-1929)CAA>CCA	p.Q643P	SCYL3_uc010plw.1_Missense_Mutation_p.Q235P|SCYL3_uc001ggt.2_Missense_Mutation_p.Q589P|SCYL3_uc001ggu.2_RNA	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	643	Interaction with EZR.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGGCCTTTCTTGTGATGACAC	0.438													G	169823652	T	G	169823652	3	3	130	1	0	0	0	0	1	0	0	0	13949	1812	63	5	308	5	SCYL3	1	169823652	Missense_Mutation	SNP	T	TCGA-BR-A4QI-01A-12D-A25D-08	4309552	169823652	79426969	16	76041											
PAPPA2	60676	broad.mit.edu	37	chr1	176740108	176740108	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcctggagtcaggactgAgcccatggctgacatgtctt	11	11	2	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:176740108A>G	uc001gkz.2	+	17	5671	c.4507A>G	c.(4507-4509)AGC>GGC	p.S1503G	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1503	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						GTCAGGACTGAGCCCATGGCT	0.458													G	176740108	A	G	176740108	3	3	130	1	0	0	0	0	1	0	0	0	11433	304	11	3	4622	3	PAPPA2	1	176740108	Missense_Mutation	SNP	A	TCGA-BR-A4QI-01A-12D-A25D-08	6916456	176740108	72510513	17	76042											
C1orf14	81626	broad.mit.edu	37	chr1	182908441	182908441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctctgatactcaatgagctCgacacgtttgtttttatatt	7	8	2	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:182908441C>T	uc001gpu.2	-	5	1231	c.946G>A	c.(946-948)GAG>AAG	p.E316K	C1orf14_uc001gpv.2_Missense_Mutation_p.E197K|C1orf14_uc010pnz.1_Missense_Mutation_p.E174K|C1orf14_uc001gpw.2_Missense_Mutation_p.E36K	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	388	Potential.										0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)		TCAATGAGCTCGACACGTTTG	0.373													T	182908441	C	T	182908441	3	4	130	1	0	0	0	0	1	0	0	0	2000	893	31	1	1039	1	C1orf14	1	182908441	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	6168333	182908441	66342180	18	76043											
FAM5C	339479	broad.mit.edu	37	chr1	190195400	190195400	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcaatgtagctcaaagctGcttgtacaaaacgttcctga	8	9	1	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:190195400G>T	uc001gse.1	-	6	1005	c.773C>A	c.(772-774)GCA>GAA	p.A258E	FAM5C_uc010pot.1_Missense_Mutation_p.A156E	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	258						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					GCTCAAAGCTGCTTGTACAAA	0.383													T	190195400	G	T	190195400	3	4	130	1	0	0	0	0	1	0	0	0	5594	1319	46	5	1539	5	FAM5C	1	190195400	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	7286959	190195400	59055221	19	76044											
DISP1	84976	broad.mit.edu	37	chr1	223178997	223178998	+	Frame_Shift_Del	DEL	AG	AG	-													aaagggaactctgtaaaaatAgagacgtgagcaatctggag							TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:223178997_223178998delAG	uc001hnu.1	+	8	4405_4406	c.4258_4259delAG	c.(4258-4260)AGAfs	p.R1420fs		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	1420					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		CTGTAAAAATAGAGACGTGAGC	0.48													-	223178998	AG	-	223178997	7	5	130	1	0	1	0	1	0	0	0	0	4539	412	15	0	4284	0	DISP1	1	223178997	Frame_Shift_Del	DEL	AG	TCGA-BR-A4QI-01A-12D-A25D-08	32983597	223178997	26071624	20	76045											
NBAS	51594	broad.mit.edu	37	chr2	15542374	15542374	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcacaggtatagatgcactCtagtgctattgccatcagtt	8	9	3	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:15542374C>T	uc002rcc.1	-	26	3015	c.2989G>A	c.(2989-2991)GAG>AAG	p.E997K	NBAS_uc010exl.1_Missense_Mutation_p.E69K|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	997										ovary(2)|liver(1)|skin(1)	4						TAGATGCACTCTAGTGCTATT	0.373													T	15542374	C	T	15542374	3	4	130	1	0	0	0	0	1	0	0	0	10186	922	32	4	4234	4	NBAS	2	15542374	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08		15542374	227656999	21	76046											
GDF7	151449	broad.mit.edu	37	chr2	20871023	20871023	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagcccaccaaccatgccatCattcagacgctgctcaactc	6	17	3	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:20871023C>T	uc002rdz.1	+	2	1767	c.1191C>T	c.(1189-1191)ATC>ATT	p.I397I		NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7 preproprotein	397					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCATGCCATCATTCAGACGC	0.642													T	20871023	C	T	20871023	2	4	130	1	0	0	0	0	0	0	0	1	6318	816	29	4		4	GDF7	2	20871023	Silent	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	5328649	20871023	222328350	22	76047											
ITSN2	50618	broad.mit.edu	37	chr2	24480916	24480916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggttatctttctttgcaGtccaggaacaaagggcctgt	11	8	2	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:24480916G>A	uc002rfe.2	-	23	2987	c.2729C>T	c.(2728-2730)ACT>ATT	p.T910I	ITSN2_uc002rff.2_Missense_Mutation_p.T883I|ITSN2_uc002rfg.2_Missense_Mutation_p.T910I|ITSN2_uc002rfh.1_RNA	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	910	SH3 2.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCTTTGCAGTCCAGGAACA	0.388													A	24480916	G	A	24480916	3	1	130	1	0	0	0	0	1	0	0	0	7927	1029	36	4	2487	4	ITSN2	2	24480916	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	3609893	24480916	218718457	23	76048											
CENPO	79172	broad.mit.edu	37	chr2	25038399	25038410	+	In_Frame_Del	DEL	GTGTCTGCATCA	GTGTCTGCATCA	-													actgaccagccgaggagtttGtgtctgcatcagtactgctt							TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:25038398_25038409TGTGTCTGCATCA>T	uc002rfq.2	+	4	494_505	c.367_378TGTGTCTGCATCA>T	c.(367-378)tgtgtctgcatc>T	p.CVCI123del	CENPO_uc002rfp.2_In_Frame_Del_p.CVCI117del	NM_024322	NP_077298	Q9BU64	CENPO_HUMAN	Homo sapiens centromere protein O (CENPO), transcript variant 1, mRNA.	123					CenH3-containing nucleosome assembly at centromere|cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCGAGGAGTTTGTGTCTGCATCAGTACTGCTT	0.481													-	25038410	GTGTCTGCATCA	-	25038399	7	5	130	1	0	1	0	1	0	0	0	0	3239	1377	48	0	382	0	CENPO	2	25038399	In_Frame_Del	DEL	GTGTCTGCATCA	TCGA-BR-A4QI-01A-12D-A25D-08	557483	25038399	218160974	24	76049											
FAM179A	165186	broad.mit.edu	37	chr2	29246051	29246051	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgtgcttggtggtgacTggggaggtgaggccccccag	19	9	0	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:29246051T>C	uc010ezl.2	+	12	1962	c.1611T>C	c.(1609-1611)ACT>ACC	p.T537T	FAM179A_uc010ymm.1_Silent_p.T482T|FAM179A_uc002rmr.3_Silent_p.T64T	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	hypothetical protein LOC165186	537							binding			ovary(3)|skin(1)	4						TGGTGGTGACTGGGGAGGTGA	0.637													C	29246051	T	C	29246051	2	2	130	1	0	0	0	0	0	0	0	1	5505	1567	55	3		3	FAM179A	2	29246051	Silent	SNP	T	TCGA-BR-A4QI-01A-12D-A25D-08	4207652	29246051	213953322	25	76050											
FAM161A	84140	broad.mit.edu	37	chr2	62066655	62066655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatcttactggtgacttaCgccttggagacaaataaggc	9	10	1	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:62066655C>T	uc010ypo.1	-	3	1586	c.1484G>A	c.(1483-1485)CGT>CAT	p.R495H	FAM161A_uc002sbm.3_Missense_Mutation_p.R495H|FAM161A_uc002sbn.3_Missense_Mutation_p.R305H|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Missense_Mutation_p.R386H	NM_032180	NP_115556	Q3B820	F161A_HUMAN	hypothetical protein LOC84140	495					response to stimulus|visual perception	centrosome				large_intestine(2)|ovary(1)	3						TGGTGACTTACGCCTTGGAGA	0.448													T	62066655	C	T	62066655	3	4	130	1	0	0	0	0	1	0	0	0	5472	536	19	1	514	1	FAM161A	2	62066655	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	32820604	62066655	181132718	26	76051											
C2orf68	388969	broad.mit.edu	37	chr2	85836595	85836595	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgtgacctctccactgtctGcctcgtattctaagcagaag	8	12	3	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:85836595G>C	uc002sqc.2	-	3	413	c.341C>G	c.(340-342)GCA>GGA	p.A114G	USP39_uc002sqb.2_Intron|USP39_uc010ysu.1_5'Flank|USP39_uc010ysv.1_5'Flank	NM_001013649	NP_001013671	Q2NKX9	CB068_HUMAN	hypothetical protein LOC388969	114										central_nervous_system(1)	1						TCCACTGTCTGCCTCGTATTC	0.532													C	85836595	G	C	85836595	3	2	130	1	0	0	0	0	1	0	0	0	2187	1319	46	5	167	5	C2orf68	2	85836595	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	23769940	85836595	157362778	27	76052											
CD8B	926	broad.mit.edu	37	chr2	87085225	87085225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggtcagctcggggctccCgacgatcatgcagaagtaga	14	10	2	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:87085225C>T	uc002srz.2	-	2	408	c.358G>A	c.(358-360)GGG>AGG	p.G120R	RMND5A_uc002srs.3_Intron|CD8B_uc002srw.2_Missense_Mutation_p.G120R|CD8B_uc002srx.2_Missense_Mutation_p.G120R|CD8B_uc002sry.2_Missense_Mutation_p.G120R|CD8B_uc010fgt.2_Missense_Mutation_p.G120R|CD8B_uc002ssa.2_Missense_Mutation_p.G120R|CD8B_uc010yto.1_Missense_Mutation_p.G120R	NM_004931	NP_004922	P10966	CD8B_HUMAN	CD8b antigen isoform 5 precursor	120	Ig-like V-type.|Extracellular (Potential).				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			upper_aerodigestive_tract(1)|skin(1)	2						TCGGGGCTCCCGACGATCATG	0.458													T	87085225	C	T	87085225	3	4	130	1	0	0	0	0	1	0	0	0	3045	652	23	1	568	1	CD8B	2	87085225	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	1248630	87085225	156114148	28	76053											
MITD1	129531	broad.mit.edu	37	chr2	99797402	99797402	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgctttagcacagtggctgCagctgtgctctgcgggtcct	13	13	1	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:99797402C>A	uc002szs.1	-	1	91	c.43G>T	c.(43-45)GCA>TCA	p.A15S	MRPL30_uc002szl.1_Intron|MRPL30_uc002szr.2_Intron|MRPL30_uc002szt.1_5'Flank|MRPL30_uc002szu.2_5'Flank|MRPL30_uc002szv.2_5'Flank	NM_138798	NP_620153	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport,	15	MIT.				protein transport	late endosome membrane				large_intestine(1)|ovary(1)	2						ACAGTGGCTGCAGCTGTGCTC	0.587													A	99797402	C	A	99797402	3	1	130	1	0	0	0	0	1	0	0	0	9595	710	25	5	734	5	MITD1	2	99797402	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	12712177	99797402	143401971	29	76054											
BUB1	699	broad.mit.edu	37	chr2	111415164	111415164	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaaacacatgaaaagcAgatgacaaagaagagatgat	8	6	2	6			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:111415164A>T	uc002tgc.2	-	14	1687	c.1575T>A	c.(1573-1575)TCT>TCA	p.S525S	BUB1_uc010yxh.1_Silent_p.S505S|BUB1_uc010fkb.2_Silent_p.S525S	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	525					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CATGAAAAGCAGATGACAAAG	0.373													T	111415164	A	T	111415164	2	4	130	1	0	0	0	0	0	0	0	1	1570	175	7	5		5	BUB1	2	111415164	Silent	SNP	A	TCGA-BR-A4QI-01A-12D-A25D-08	11617762	111415164	131784209	30	76055											
LRP1B	53353	broad.mit.edu	37	chr2	141004675	141004675	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgctgatatgatcagacTtgctgctctttggggctggc	13	8	2	3			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:141004675T>G	uc002tvj.1	-	87	14276	c.13304A>C	c.(13303-13305)AAG>ACG	p.K4435T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4435	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGATCAGACTTGCTGCTCTT	0.378										TSP Lung(27;0.18)			G	141004675	T	G	141004675	3	3	130	1	0	0	0	0	1	0	0	0	8955	1609	56	5	515	5	LRP1B	2	141004675	Missense_Mutation	SNP	T	TCGA-BR-A4QI-01A-12D-A25D-08	29589511	141004675	102194698	31	76056											
ANKRD44	91526	broad.mit.edu	37	chr2	197865188	197865188	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgatactggaatctatggccCcaagcagcaatgatgcacaa	9	11	1	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:197865188C>A	uc002uua.1	-	23	2476	c.2399G>T	c.(2398-2400)GGG>GTG	p.G800V	ANKRD44_uc002utz.3_Missense_Mutation_p.G532V	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	825	ANK 24.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATCTATGGCCCCAAGCAGCAA	0.363													A	197865188	C	A	197865188	3	1	130	1	0	0	0	0	1	0	0	0	672	623	22	5	376	5	ANKRD44	2	197865188	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	56860513	197865188	45334185	32	76057											
ALS2CR12	130540	broad.mit.edu	37	chr2	202216070	202216070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggtcttgattagcttccGtggtcccaagttccaggggt	14	9	1	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:202216070G>A	uc010ftg.2	-	2	502	c.58C>T	c.(58-60)CGG>TGG	p.R20W	ALS2CR12_uc002uya.3_Missense_Mutation_p.R20W|ALS2CR12_uc010fth.2_RNA	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	20					regulation of GTPase activity		protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						ATTAGCTTCCGTGGTCCCAAG	0.557													A	202216070	G	A	202216070	3	1	130	1	0	0	0	0	1	0	0	0	553	1144	40	1	1335	1	ALS2CR12	2	202216070	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	4350882	202216070	40983303	33	76058											
VWC2L	402117	broad.mit.edu	37	chr2	215279303	215279303	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacaaaatcttggaggaatTtaaggtatgcgttaccctcc	8	8	1	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:215279303T>A	uc002vet.2	+	2	516	c.386T>A	c.(385-387)TTT>TAT	p.F129Y	VWC2L_uc010zjl.1_Missense_Mutation_p.F129Y	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain-containing	129	VWFC 2.					extracellular region					0						TTGGAGGAATTTAAGGTATGC	0.343													A	215279303	T	A	215279303	3	1	130	1	0	0	0	0	1	0	0	0	17241	1841	64	5	388	5	VWC2L	2	215279303	Missense_Mutation	SNP	T	TCGA-BR-A4QI-01A-12D-A25D-08	13063233	215279303	27920070	34	76059											
ASB1	51665	broad.mit.edu	37	chr2	239353036	239353036	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gactcctgatgtccagcctcGattctcccggcggctcacct	9	17	2	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:239353036G>T	uc002vyg.2	+	4	634	c.548G>T	c.(547-549)CGA>CTA	p.R183L		NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box-containing protein	183					intracellular signal transduction|negative regulation of cytokine biosynthetic process						0		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		GTCCAGCCTCGATTCTCCCGG	0.612													T	239353036	G	T	239353036	3	4	130	1	0	0	0	0	1	0	0	0	1013	1058	37	5	562	5	ASB1	2	239353036	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	24073733	239353036	3846337	35	76060											
TLR9	54106	broad.mit.edu	37	chr3	52255548	52255548	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacagcgtcttgcggctgccAtagaccgaggcccacaggtt	12	13	1	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr3:52255548A>G	uc003dda.1	-	2	3418	c.2784T>C	c.(2782-2784)TAT>TAC	p.Y928Y	TLR9_uc003ddb.2_Silent_p.Y1025Y	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	928	TIR.|Cytoplasmic (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TGCGGCTGCCATAGACCGAGG	0.667													G	52255548	A	G	52255548	2	3	130	1	0	0	0	0	0	0	0	1	15955	224	8	3		3	TLR9	3	52255548	Silent	SNP	A	TCGA-BR-A4QI-01A-12D-A25D-08		52255548	145766882	36	76061											
ROBO2	6092	broad.mit.edu	37	chr3	77666773	77666773	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggtcccaacacctcctgttCgaggcgtggcttcttctcct	10	15	2	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr3:77666773C>T	uc003dpy.3	+	22	4046	c.3403C>T	c.(3403-3405)CGA>TGA	p.R1135*	ROBO2_uc003dpz.2_Nonsense_Mutation_p.R1139*|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Nonsense_Mutation_p.R1139*|ROBO2_uc003dqa.2_Nonsense_Mutation_p.R262*	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1135	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACCTCCTGTTCGAGGCGTGGC	0.517													T	77666773	C	T	77666773	4	4	130	1	0	0	0	0	0	1	0	0	13514	876	31	1	3491	1	ROBO2	3	77666773	Nonsense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	25411225	77666773	120355657	37	76062											
SEMA5B	54437	broad.mit.edu	37	chr3	122630793	122630793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgctgtaggggcaggggCggctctggctgctgtttcca	16	11	2	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr3:122630793C>T	uc003efz.1	-	20	3324	c.3020G>A	c.(3019-3021)CGC>CAC	p.R1007H	SEMA5B_uc011bju.1_Missense_Mutation_p.R913H|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R1007H|SEMA5B_uc003efy.1_5'UTR	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	1007	Extracellular (Potential).|TSP type-1 5.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		GGGGCAGGGGCGGCTCTGGCT	0.642													T	122630793	C	T	122630793	3	4	130	1	0	0	0	0	1	0	0	0	14038	768	27	1	451	1	SEMA5B	3	122630793	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	44964020	122630793	75391637	38	76063											
GYG1	2992	broad.mit.edu	37	chr3	148742051	148742051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaagacacctgctcatatGtaaatgtggtaggttctgtt	9	7	3	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr3:148742051G>A	uc003ewn.2	+	6	873	c.820G>A	c.(820-822)GTA>ATA	p.V274I	GYG1_uc011bnp.1_3'UTR|GYG1_uc003ewo.2_Missense_Mutation_p.V274I|GYG1_uc003ewp.2_Intron	NM_004130	NP_004121	P46976	GLYG_HUMAN	glycogenin 1	274					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CTGCTCATATGTAAATGTGGT	0.363													A	148742051	G	A	148742051	3	1	130	1	0	0	0	0	1	0	0	0	6905	1377	48	4	842	4	GYG1	3	148742051	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	26111258	148742051	49280379	39	76064											
TNIK	23043	broad.mit.edu	37	chr3	170805248	170805248	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaggttgatgtggccagcAaagccattgctgtcactgtg	15	8	1	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr3:170805248A>G	uc003fhh.2	-	24	3114	c.2769T>C	c.(2767-2769)TTT>TTC	p.F923F	TNIK_uc003fhi.2_Silent_p.F868F|TNIK_uc003fhj.2_Silent_p.F894F|TNIK_uc003fhk.2_Silent_p.F915F|TNIK_uc003fhl.2_Silent_p.F839F|TNIK_uc003fhm.2_Silent_p.F860F|TNIK_uc003fhn.2_Silent_p.F886F|TNIK_uc003fho.2_Silent_p.F831F|TNIK_uc003fhg.2_Silent_p.F101F	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	923	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGTGGCCAGCAAAGCCATTGC	0.597													G	170805248	A	G	170805248	2	3	130	1	0	0	0	0	0	0	0	1	16310	127	5	3		3	TNIK	3	170805248	Silent	SNP	A	TCGA-BR-A4QI-01A-12D-A25D-08	22063197	170805248	27217182	40	76065											
SHISA3	152573	broad.mit.edu	37	chr4	42403249	42403249	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggcagtccagcacagccacGagctccagctccacaggcgg	12	17	0	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr4:42403249G>A	uc003gwp.2	+	2	716	c.498G>A	c.(496-498)ACG>ACA	p.T166T		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	shisa homolog 3 precursor	166	Cytoplasmic (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				ovary(1)|skin(1)	2						GCACAGCCACGAGCTCCAGCT	0.672													A	42403249	G	A	42403249	2	1	130	1	0	0	0	0	0	0	0	1	14281	1045	37	1		1	SHISA3	4	42403249	Silent	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08		42403249	148751027	41	76066											
KCTD8	386617	broad.mit.edu	37	chr4	44449773	44449773	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggctgccggtcggggtcGcggctctcgttgagcgtgtc	17	13	1	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr4:44449773G>A	uc003gwu.2	-	1	1052	c.768C>T	c.(766-768)CGC>CGT	p.R256R		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	256						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						GGTCGGGGTCGCGGCTCTCGT	0.652										HNSCC(17;0.042)			A	44449773	G	A	44449773	2	1	130	1	0	0	0	0	0	0	0	1	8115	1074	38	1		1	KCTD8	4	44449773	Silent	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	2046524	44449773	146704503	42	76067											
CWH43	80157	broad.mit.edu	37	chr4	48993570	48993570	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgcaagctgtgacttggtGgtcaggaagtcatttgcaaa	13	6	2	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr4:48993570G>T	uc003gyv.2	+	3	517	c.335G>T	c.(334-336)TGG>TTG	p.W112L	CWH43_uc011bzl.1_Missense_Mutation_p.W85L	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog	112	Helical; (Potential).				GPI anchor biosynthetic process	integral to membrane				skin(2)|ovary(1)	3						GTGACTTGGTGGTCAGGAAGT	0.473													T	48993570	G	T	48993570	3	4	130	1	0	0	0	0	1	0	0	0	4073	1357	47	5	345	5	CWH43	4	48993570	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	4543797	48993570	142160706	43	76068											
DCUN1D4	23142	broad.mit.edu	37	chr4	52779533	52779533	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agaacaattaatcttgacctCagcaactatgatgaagatgg	8	7	2	5			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr4:52779533C>T	uc003gze.2	+	10	931	c.798C>T	c.(796-798)CTC>CTT	p.L266L	DCUN1D4_uc003gzf.2_Silent_p.L231L|DCUN1D4_uc011bzn.1_Silent_p.L206L|DCUN1D4_uc003gzg.2_RNA|DCUN1D4_uc003gzh.2_RNA|DCUN1D4_uc011bzo.1_Silent_p.L310L	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain	266	DCUN1.									ovary(2)	2			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTTGACCTCAGCAACTATG	0.388													T	52779533	C	T	52779533	2	4	130	1	0	0	0	0	0	0	0	1	4316	813	29	4		4	DCUN1D4	4	52779533	Silent	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	3785963	52779533	138374743	44	76069											
EPHA5	2044	broad.mit.edu	37	chr4	66356300	66356300	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacacacacctgcatgggaGttgcacttcttgcatgcaat	8	12	2	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr4:66356300G>A	uc003hcy.2	-	5	1390	c.1197C>T	c.(1195-1197)AAC>AAT	p.N399N	EPHA5_uc003hcx.2_Silent_p.N330N|EPHA5_uc003hcz.2_Silent_p.N399N|EPHA5_uc011cah.1_Silent_p.N399N|EPHA5_uc011cai.1_Silent_p.N399N|EPHA5_uc003hda.2_Silent_p.N399N	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	399	Fibronectin type-III 1.|Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						CTGCATGGGAGTTGCACTTCT	0.488										TSP Lung(17;0.13)			A	66356300	G	A	66356300	2	1	130	1	0	0	0	0	0	0	0	1	5170	1020	36	4		4	EPHA5	4	66356300	Silent	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	13576767	66356300	124797976	45	76070											
ANK2	287	broad.mit.edu	37	chr4	114204000	114204000	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttaccttgcttctggataAgggagccaatatccacatgt	10	9	1	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr4:114204000A>G	uc003ibe.3	+	18	2151	c.2051A>G	c.(2050-2052)AAG>AGG	p.K684R	ANK2_uc003ibd.3_Missense_Mutation_p.K663R|ANK2_uc003ibf.3_Missense_Mutation_p.K684R|ANK2_uc003ibc.2_Missense_Mutation_p.K660R|ANK2_uc011cgb.1_Missense_Mutation_p.K699R	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	684	ANK 20.				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)		CTTCTGGATAAGGGAGCCAAT	0.453													G	114204000	A	G	114204000	3	3	130	1	0	0	0	0	1	0	0	0	621	72	3	3	2146	3	ANK2	4	114204000	Missense_Mutation	SNP	A	TCGA-BR-A4QI-01A-12D-A25D-08	47847700	114204000	76950276	46	76071											
NPY2R	4887	broad.mit.edu	37	chr4	156135406	156135406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaacactctgtgtctaccGttcactcttacctatacctt	5	13	4	1	rs148709959	byFrequency	TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr4:156135406G>A	uc003ioq.2	+	2	810	c.315G>A	c.(313-315)CCG>CCA	p.P105P	NPY2R_uc003ior.2_Silent_p.P105P	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	105	Helical; Name=2; (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			lung(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0854)				TGTGTCTACCGTTCACTCTTA	0.493													A	156135406	G	A	156135406	2	1	130	1	0	0	0	0	0	0	0	1	10609	1132	40	1		1	NPY2R	4	156135406	Silent	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	41931406	156135406	35018870	47	76072											
PDGFC	56034	broad.mit.edu	37	chr4	157771437	157771437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacgtaagttgtatccataCattttcctctactgctacta	4	10	1	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr4:157771437C>T	uc003iph.1	-	2	741	c.250G>A	c.(250-252)GTA>ATA	p.V84I	PDGFC_uc003ipi.1_5'UTR|PDGFC_uc011cis.1_Intron|PDGFC_uc011cir.1_5'UTR	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	platelet-derived growth factor C precursor	84	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			ovary(1)|lung(1)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TGTATCCATACATTTTCCTCT	0.378													T	157771437	C	T	157771437	3	4	130	1	0	0	0	0	1	0	0	0	11659	478	17	4	807	4	PDGFC	4	157771437	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	1636031	157771437	33382839	48	76073											
SC4MOL	6307	broad.mit.edu	37	chr4	166258981	166258981	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaatggaagtgtttcaAagttcttctctttaatcact	5	8	4	0	rs141811636	byFrequency	TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr4:166258981A>G	uc003ire.2	+	3	426	c.296A>G	c.(295-297)AAA>AGA	p.K99R	SC4MOL_uc010irb.2_Missense_Mutation_p.K99R|SC4MOL_uc003irf.2_5'UTR	NM_006745	NP_006736	Q15800	ERG25_HUMAN	sterol-C4-methyl oxidase-like isoform 1	99					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding				0	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0875)	NADH(DB00157)	AAGTGTTTCAAAGTTCTTCTC	0.343													G	166258981	A	G	166258981	3	3	130	1	0	0	0	0	1	0	0	0	13865	14	1	3	302	3	SC4MOL	4	166258981	Missense_Mutation	SNP	A	TCGA-BR-A4QI-01A-12D-A25D-08	8487544	166258981	24895295	49	76074											
GPM6A	2823	broad.mit.edu	37	chr4	176622915	176622915	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttgatacagcattcaaaaCaccctgtagaagatcacaaa	5	9	2	3			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr4:176622915C>A	uc003iuf.2	-	2	845	c.41G>T	c.(40-42)TGT>TTT	p.C14F	GPM6A_uc011ckj.1_Missense_Mutation_p.C7F|GPM6A_uc003iug.2_Missense_Mutation_p.C14F|GPM6A_uc003iuh.2_Missense_Mutation_p.C3F	NM_201591	NP_963885	P51674	GPM6A_HUMAN	glycoprotein M6A isoform 2	14	Cytoplasmic (Potential).					cell surface|integral to membrane					0		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GCATTCAAAACACCCTGTAGA	0.423													A	176622915	C	A	176622915	3	1	130	1	0	0	0	0	1	0	0	0	6615	478	17	5	819	5	GPM6A	4	176622915	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	10363934	176622915	14531361	50	76075											
ADAMTS16	170690	broad.mit.edu	37	chr5	5186212	5186212	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatcttgccagatgagTataagtcttgcttacggcat	8	9	4	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr5:5186212T>A	uc003jdl.2	+	5	949	c.811T>A	c.(811-813)TAT>AAT	p.Y271N	ADAMTS16_uc003jdk.1_Missense_Mutation_p.Y271N|ADAMTS16_uc003jdj.1_Missense_Mutation_p.Y271N	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	271					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						GCCAGATGAGTATAAGTCTTG	0.483													A	5186212	T	A	5186212	3	1	130	1	0	0	0	0	1	0	0	0	261	1638	57	5	829	5	ADAMTS16	5	5186212	Missense_Mutation	SNP	T	TCGA-BR-A4QI-01A-12D-A25D-08		5186212	175729048	51	76076											
SPEF2	79925	broad.mit.edu	37	chr5	35667221	35667221	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgaagaacaattccttaaAgaaaagagatttcatgatca	6	5	2	5			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr5:35667221A>G	uc003jjo.2	+	9	1326	c.1215A>G	c.(1213-1215)AAA>AAG	p.K405K	SPEF2_uc003jjn.1_Silent_p.K405K|SPEF2_uc003jjq.3_Silent_p.K405K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	405					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATTCCTTAAAGAAAAGAGAT	0.303													G	35667221	A	G	35667221	2	3	130	1	0	0	0	0	0	0	0	1	15034	69	3	3		3	SPEF2	5	35667221	Silent	SNP	A	TCGA-BR-A4QI-01A-12D-A25D-08	30481009	35667221	145248039	52	76077											
GDNF	2668	broad.mit.edu	37	chr5	37834836	37834836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcttaccggcgggcagCgggaaggcggacgcggtgtg	20	11	1	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr5:37834836C>T	uc011cpi.1	-	2	263	c.63G>A	c.(61-63)CCG>CCA	p.P21P	GDNF_uc011cpc.1_Missense_Mutation_p.A19T|GDNF_uc011cpd.1_5'UTR|GDNF_uc011cpe.1_Silent_p.P21P|GDNF_uc011cpf.1_Silent_p.P21P|GDNF_uc011cpg.1_Silent_p.P38P|GDNF_uc011cph.1_Silent_p.P38P	NM_000514	NP_000505	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor isoform 1	21			P -> S (in HSCR3; could be a polymorphism).		adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity				0	all_lung(31;0.00118)					CGGCGGGCAGCGGGAAGGCGG	0.697													T	37834836	C	T	37834836	2	4	130	1	0	0	0	0	0	0	0	1	6322	755	27	1		1	GDNF	5	37834836	Silent	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	2167615	37834836	143080424	53	76078											
EGFLAM	133584	broad.mit.edu	37	chr5	38258870	38258870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcgaaatggatttaatccGaggcgtcttgctccggctcc	11	12	1	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr5:38258870G>A	uc003jlc.1	+	1	338	c.14G>A	c.(13-15)CGA>CAA	p.R5Q	EGFLAM_uc003jlb.1_Missense_Mutation_p.R5Q	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	5						cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					GATTTAATCCGAGGCGTCTTG	0.682													A	38258870	G	A	38258870	3	1	130	1	0	0	0	0	1	0	0	0	4966	1058	37	1	16	1	EGFLAM	5	38258870	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	424034	38258870	142656390	54	76079											
SKIV2L2	23517	broad.mit.edu	37	chr5	54649063	54649063	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagaactgttttatttacaaAtgcccgcaaatttgatggga	8	6	0	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr5:54649063A>G	uc003jpy.3	+	14	1765	c.1499A>G	c.(1498-1500)AAT>AGT	p.N500S	SKIV2L2_uc011cqi.1_Missense_Mutation_p.N399S	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	500	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)|skin(1)	2		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTATTTACAAATGCCCGCAAA	0.328													G	54649063	A	G	54649063	3	3	130	1	0	0	0	0	1	0	0	0	14360	101	4	3	1553	3	SKIV2L2	5	54649063	Missense_Mutation	SNP	A	TCGA-BR-A4QI-01A-12D-A25D-08	16390193	54649063	126266197	55	76080											
APBB3	10307	broad.mit.edu	37	chr5	139940666	139940666	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacttctgagcagcttggcTtaccgcatccagcagctcca	9	14	1	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr5:139940666T>G	uc003lgd.1	-	9	1227	c.868A>C	c.(868-870)AGC>CGC	p.S290R	SRA1_uc010jfm.2_5'Flank|SRA1_uc003lga.2_5'Flank|APBB3_uc003lgb.1_Missense_Mutation_p.S62R|APBB3_uc003lgc.1_Missense_Mutation_p.S62R|APBB3_uc003lge.1_Missense_Mutation_p.S283R|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_Missense_Mutation_p.S62R|APBB3_uc010jfq.1_Missense_Mutation_p.S62R	NM_133172	NP_573418	O95704	APBB3_HUMAN	amyloid beta precursor protein-binding, family	285	PID 2.					actin cytoskeleton|cytoplasm				ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTTGGCTTACCGCATCC	0.552													G	139940666	T	G	139940666	3	3	130	1	0	0	0	0	1	0	0	0	762	1609	56	5	623	5	APBB3	5	139940666	Missense_Mutation	SNP	T	TCGA-BR-A4QI-01A-12D-A25D-08	85291603	139940666	40974594	56	76081											
TRIM7	81786	broad.mit.edu	37	chr5	180622459	180622459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcggcgcacgctctcgcGggccacgccaaaggcccagc	12	18	1	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr5:180622459G>A	uc003mmz.1	-	7	1310	c.1243C>T	c.(1243-1245)CGC>TGC	p.R415C	TRIM7_uc003mmv.1_Missense_Mutation_p.R233C|TRIM7_uc003mmw.1_Missense_Mutation_p.R207C|TRIM7_uc003mmx.1_Missense_Mutation_p.R207C|TRIM7_uc003mmy.1_Missense_Mutation_p.R207C	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	415	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		ACGCTCTCGCGGGCCACGCCA	0.711													A	180622459	G	A	180622459	3	1	130	1	0	0	0	0	1	0	0	0	16540	1116	39	1	296	1	TRIM7	5	180622459	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	40681793	180622459	292801	57	76082											
TDRD6	221400	broad.mit.edu	37	chr6	46657611	46657611	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaatgtggactggtatgaCgtaaggatgctgcttcctca	12	7	1	1	rs143534526		TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr6:46657611C>T	uc003oyj.2	+	1	1746	c.1746C>T	c.(1744-1746)GAC>GAT	p.D582D	TDRD6_uc010jze.2_Silent_p.D576D	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	582	Tudor 3.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			ACTGGTATGACGTAAGGATGC	0.453													T	46657611	C	T	46657611	2	4	130	1	0	0	0	0	0	0	0	1	15731	535	19	1		1	TDRD6	6	46657611	Silent	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08		46657611	124457456	58	76083											
SIM1	6492	broad.mit.edu	37	chr6	100897520	100897520	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cggtgagcaccgccgtcatcTcgtcgtggtctgccgggtga	15	13	3	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr6:100897520T>A	uc003pqj.3	-	4	611	c.404A>T	c.(403-405)GAG>GTG	p.E135V	SIM1_uc010kcu.2_Missense_Mutation_p.E135V	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	135	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CGCCGTCATCTCGTCGTGGTC	0.592													A	100897520	T	A	100897520	3	1	130	1	0	0	0	0	1	0	0	0	14323	1551	54	5	1928	5	SIM1	6	100897520	Missense_Mutation	SNP	T	TCGA-BR-A4QI-01A-12D-A25D-08	54239909	100897520	70217547	59	76084											
RNF217	154214	broad.mit.edu	37	chr6	125402621	125402621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctctaattatggttttggGattggcactaggggccatag	12	7	1	0	rs137981529		TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr6:125402621G>A	uc003pzs.2	+	7	985	c.647G>A	c.(646-648)GGA>GAA	p.G216E	RNF217_uc003pzr.2_Missense_Mutation_p.G273E|RNF217_uc003pzt.2_RNA	NM_152553	NP_689766	Q8TC41	RN217_HUMAN	ring finger protein 217	216	Helical; (Potential).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		ATGGTTTTGGGATTGGCACTA	0.363													A	125402621	G	A	125402621	3	1	130	1	0	0	0	0	1	0	0	0	13481	1174	41	4	665	4	RNF217	6	125402621	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	24505101	125402621	45712446	60	76085											
ENPP1	5167	broad.mit.edu	37	chr6	132194115	132194115	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgaaacatttcttacctaAgcgtttgcactttgctaaga	6	10	1	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr6:132194115A>C	uc011ecf.1	+	15	1510	c.1490A>C	c.(1489-1491)AAG>ACG	p.K497T	ENPP1_uc003qcy.2_Missense_Mutation_p.K127T	NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	497	Phosphodiesterase.|Extracellular (Potential).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTCTTACCTAAGCGTTTGCAC	0.403													C	132194115	A	C	132194115	3	2	130	1	0	0	0	0	1	0	0	0	5129	72	3	5	1548	5	ENPP1	6	132194115	Missense_Mutation	SNP	A	TCGA-BR-A4QI-01A-12D-A25D-08	6791494	132194115	38920952	61	76086											
SGK1	6446	broad.mit.edu	37	chr6	134494621	134494621	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttccaaaactgccctttccGatcactttcaagaagtgaaa	5	11	2	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr6:134494621G>A	uc003qen.3	-	4	401	c.312C>T	c.(310-312)ATC>ATT	p.I104I	SGK1_uc003qeo.3_Silent_p.I199I|SGK1_uc011ect.1_Silent_p.I94I|SGK1_uc011ecu.1_Silent_p.I104I|SGK1_uc011ecv.1_Silent_p.I118I|SGK1_uc011ecw.1_Silent_p.I132I	NM_005627	NP_005618	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1 isoform	104	ATP (By similarity).|Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(3)|stomach(1)|lung(1)|central_nervous_system(1)	6	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGCCCTTTCCGATCACTTTCA	0.393													A	134494621	G	A	134494621	2	1	130	1	0	0	0	0	0	0	0	1	14207	1048	37	1		1	SGK1	6	134494621	Silent	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	2300506	134494621	36620446	62	76087											
PARK2	5071	broad.mit.edu	37	chr6	161990446	161990447	+	Frame_Shift_Ins	INS	-	-	T													atcaaggagttgggacagccINSagctgttggaaagaagaatt							TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr6:161990446_161990447insT	uc003qtx.3	-	8	1007_1008	c.873_874insA	c.(871-876)GCTGGCfs	p.A291fs	PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Frame_Shift_Ins_p.A100fs|PARK2_uc003qtw.3_Frame_Shift_Ins_p.A100fs|PARK2_uc003qty.3_Frame_Shift_Ins_p.A263fs|PARK2_uc003qtz.3_Frame_Shift_Ins_p.A142fs|PARK2_uc010kke.1_Frame_Shift_Ins_p.A310fs|PARK2_uc011egf.1_5'UTR	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	291_292	SYT11 binding 2.|RING-type 1; atypical.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TTGGGACAGCCAGCTGTTGGAA	0.431													T	161990447	-	T	161990446	7	5	130	1	0	1	1	0	0	0	0	0	11449	594	21	0	543	0	PARK2	6	161990446	Frame_Shift_Ins	INS	-	TCGA-BR-A4QI-01A-12D-A25D-08	27495825	161990446	9124621	63	76088	342	2									
PARK2	5071	broad.mit.edu	37	chr6	161990447	161990448	+	Splice_Site	INS	-	-	T													tcaaggagttgggacagccaINSgctgttggaaagaagaatta							TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr6:161990446_161990447C>CT	uc021zhu.1	-	9	1104	c.1013_splice	c.e9-1	p.A338_splice	PARK2_uc003qtv.4_Intron|PARK2_uc003qtw.4_Splice_Site_p.A100_splice|PARK2_uc010kkd.3_Splice_Site_p.A100_splice|PARK2_uc003qtx.4_Splice_Site_p.A291_splice|PARK2_uc021zhs.1_Splice_Site_p.A263_splice|PARK2_uc021zht.1_Intron|PARK2_uc003qty.4_Splice_Site_p.A263_splice|PARK2_uc003qtz.4_Splice_Site_p.A142_splice|PARK2_uc021zhv.1_Splice_Site_p.A212_splice|PARK2_uc021zhw.1_Splice_Site_p.A100_splice|PARK2_uc021zhx.1_Intron|PARK2_uc021zhy.1_Splice_Site_p.A291_splice|PARK2_uc010kke.1_Splice_Site_p.A310_splice|PARK2_uc011egf.2_Splice_Site	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	291					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TTGGGACAGCCAGCTGTTGGAA	0.431													T	161990448	-	T	161990447	8	5	130	1	0	1	1	0	0	0	1	0	11449	202	7	0	544	0	PARK2	6	161990447	Splice_Site	INS	-	TCGA-BR-A4QI-01A-12D-A25D-08	1	161990447	9124620	64	76089	342	2									
SDK1	221935	broad.mit.edu	37	chr7	4002413	4002413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgcgtccagaggactcCggaatcttccagtgcttcgc	11	13	1	1	rs141891693	byFrequency	TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr7:4002413C>T	uc003smx.2	+	9	1498	c.1359C>T	c.(1357-1359)TCC>TCT	p.S453S		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	453	Ig-like C2-type 4.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGAGGACTCCGGAATCTTCC	0.577													T	4002413	C	T	4002413	2	4	130	1	0	0	0	0	0	0	0	1	13968	639	23	1		1	SDK1	7	4002413	Silent	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08		4002413	155136250	65	76090											
TRIL	9865	broad.mit.edu	37	chr7	28996249	28996249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcctaccagctccctggCggccccatcccaggccaccc	9	21	0	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr7:28996249C>T	uc003szt.2	-	3	1781	c.1414G>A	c.(1414-1416)GCC>ACC	p.A472T	uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine rich repeats	472	Extracellular (Potential).				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding				0						AGCTCCCTGGCGGCCCCATCC	0.751													T	28996249	C	T	28996249	3	4	130	1	0	0	0	0	1	0	0	0	16482	768	27	1	1025	1	TRIL	7	28996249	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	24993836	28996249	130142414	66	76091											
CCDC129	223075	broad.mit.edu	37	chr7	31690769	31690769	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttctcagtgcacagtccatgAgatggaagccatgaagacga	11	9	1	3			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr7:31690769A>T	uc003tcj.1	+	12	3590	c.2597A>T	c.(2596-2598)GAG>GTG	p.E866V	CCDC129_uc011kad.1_Missense_Mutation_p.E876V|CCDC129_uc003tci.1_Missense_Mutation_p.E717V|CCDC129_uc011kae.1_Missense_Mutation_p.E892V|CCDC129_uc003tck.1_Missense_Mutation_p.E774V	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	866											0						ACAGTCCATGAGATGGAAGCC	0.478													T	31690769	A	T	31690769	3	4	130	1	0	0	0	0	1	0	0	0	2764	304	11	5	2639	5	CCDC129	7	31690769	Missense_Mutation	SNP	A	TCGA-BR-A4QI-01A-12D-A25D-08	2694520	31690769	127447894	67	76092											
BMPER	168667	broad.mit.edu	37	chr7	34118544	34118544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatttaactttcaggggaCgtgtcagtacgttttgacaa	10	7	2	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr7:34118544C>T	uc011kap.1	+	12	1268	c.1154C>T	c.(1153-1155)ACG>ATG	p.T385M		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	385	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3						TTTCAGGGGACGTGTCAGTAC	0.572													T	34118544	C	T	34118544	3	4	130	1	0	0	0	0	1	0	0	0	1468	536	19	1	1200	1	BMPER	7	34118544	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	2427775	34118544	125020119	68	76093											
STARD3NL	83930	broad.mit.edu	37	chr7	38247172	38247172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctcccatgcttctctgCgcaatatccattccatcaac	5	15	2	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr7:38247172C>T	uc003tfr.2	+	2	215	c.67C>T	c.(67-69)CGC>TGC	p.R23C	STARD3NL_uc003tfs.2_Missense_Mutation_p.R23C|STARD3NL_uc003tft.2_Missense_Mutation_p.R23C	NM_032016	NP_114405	O95772	MENTO_HUMAN	MLN64 N-terminal homolog	23	Cytoplasmic (Potential).					integral to membrane|late endosome membrane				ovary(1)	1						TGCTTCTCTGCGCAATATCCA	0.517													T	38247172	C	T	38247172	3	4	130	1	0	0	0	0	1	0	0	0	15257	768	27	1	69	1	STARD3NL	7	38247172	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	4128628	38247172	120891491	69	76094											
ACHE	43	broad.mit.edu	37	chr7	100490818	100490818	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagtctcccgcgttgatgaGggcctctggggtgtcactga	15	10	3	3			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr7:100490818G>T	uc003uxd.2	-	1	1192	c.1036C>A	c.(1036-1038)CTC>ATC	p.L346I	ACHE_uc003uxe.2_Missense_Mutation_p.L346I|ACHE_uc003uxf.2_Missense_Mutation_p.L346I|ACHE_uc003uxg.2_Missense_Mutation_p.L346I|ACHE_uc003uxh.2_Missense_Mutation_p.L346I|ACHE_uc003uxi.2_Missense_Mutation_p.L346I|ACHE_uc003uxj.1_Missense_Mutation_p.L465I	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	346					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GCGTTGATGAGGGCCTCTGGG	0.612													T	100490818	G	T	100490818	3	4	130	1	0	0	0	0	1	0	0	0	141	1000	35	5	959	5	ACHE	7	100490818	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	62243646	100490818	58647845	70	76095											
MUC17	140453	broad.mit.edu	37	chr7	100677488	100677488	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctccattaacaagtatgcctGacagcaccacgccggtagtc	8	14	0	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr7:100677488G>A	uc003uxp.1	+	3	2844	c.2791G>A	c.(2791-2793)GAC>AAC	p.D931N	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	931	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|13.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGTATGCCTGACAGCACCAC	0.507													A	100677488	G	A	100677488	3	1	130	1	0	0	0	0	1	0	0	0	9974	1290	45	4	2801	4	MUC17	7	100677488	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	186670	100677488	58461175	71	76096											
PSMC2	5701	broad.mit.edu	37	chr7	102994396	102994396	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagggggatattgccttgttGaaaacttatgtaagtccttt	11	5	0	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr7:102994396G>C	uc003vbs.2	+	2	169	c.99G>C	c.(97-99)TTG>TTC	p.L33F	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011kln.1_Missense_Mutation_p.L33F|PSMC2_uc011klo.1_5'UTR	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	33					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0						TTGCCTTGTTGAAAACTTATG	0.303													C	102994396	G	C	102994396	3	2	130	1	0	0	0	0	1	0	0	0	12686	1281	45	5	105	5	PSMC2	7	102994396	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	2316908	102994396	56144267	72	76097											
ZNF777	27153	broad.mit.edu	37	chr7	149129715	149129715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggaagctcttgccgcactCcatgcatgtgaagggccgct	13	13	1	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr7:149129715C>T	uc003wfv.2	-	6	1811	c.1648G>A	c.(1648-1650)GAG>AAG	p.E550K		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	550	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TTGCCGCACTCCATGCATGTG	0.662													T	149129715	C	T	149129715	3	4	130	1	0	0	0	0	1	0	0	0	18147	864	30	4	851	4	ZNF777	7	149129715	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	46135319	149129715	10008948	73	76098											
HR	55806	broad.mit.edu	37	chr8	21983209	21983209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcatggtatgtcctgaagtCccgggtcctggagactggcc	15	11	0	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr8:21983209C>T	uc003xas.2	-	4	2107	c.1442G>A	c.(1441-1443)GGA>GAA	p.G481E	HR_uc003xat.2_Missense_Mutation_p.G481E	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	481							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTCCTGAAGTCCCGGGTCCTG	0.597													T	21983209	C	T	21983209	3	4	130	1	0	0	0	0	1	0	0	0	7347	855	30	4	2191	4	HR	8	21983209	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08		21983209	124380813	74	76099											
PREX2	80243	broad.mit.edu	37	chr8	68939478	68939478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcatgctgcttggaggaCggaagaacacagatgttccc	12	10	0	2	rs139157434		TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr8:68939478C>T	uc003xxv.1	+	5	490	c.463C>T	c.(463-465)CGG>TGG	p.R155W	PREX2_uc003xxu.1_Missense_Mutation_p.R155W|PREX2_uc011lez.1_Missense_Mutation_p.R90W	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	155	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GCTTGGAGGACGGAAGAACAC	0.358													T	68939478	C	T	68939478	3	4	130	1	0	0	0	0	1	0	0	0	12477	527	19	1	481	1	PREX2	8	68939478	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	46956269	68939478	77424544	75	76100											
PI15	51050	broad.mit.edu	37	chr8	75737570	75737570	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctactcaattccactgActcatccccgccaaccaata	3	18	2	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr8:75737570A>T	uc003yal.2	+	2	265	c.86A>T	c.(85-87)GAC>GTC	p.D29V	uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.D29V	NM_015886	NP_056970	O43692	PI15_HUMAN	protease inhibitor 15 preproprotein	29						extracellular region	peptidase inhibitor activity			central_nervous_system(2)|ovary(1)	3	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			AATTCCACTGACTCATCCCCG	0.488													T	75737570	A	T	75737570	3	4	130	1	0	0	0	0	1	0	0	0	11868	275	10	5	88	5	PI15	8	75737570	Missense_Mutation	SNP	A	TCGA-BR-A4QI-01A-12D-A25D-08	6798092	75737570	70626452	76	76101											
TRPS1	7227	broad.mit.edu	37	chr8	116631899	116631899	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtcatctgcctctgctctTtgcggagacttcaagggctc	12	12	5	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr8:116631899T>G	uc003ynz.2	-	2	846	c.387A>C	c.(385-387)CAA>CAC	p.Q129H	TRPS1_uc011lhy.1_Missense_Mutation_p.Q133H|TRPS1_uc003yny.2_Missense_Mutation_p.Q142H|TRPS1_uc010mcy.2_Missense_Mutation_p.Q129H	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	129					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CCTCTGCTCTTTGCGGAGACT	0.527									Langer-Giedion_syndrome				G	116631899	T	G	116631899	3	3	130	1	0	0	0	0	1	0	0	0	16590	1838	64	5	3478	5	TRPS1	8	116631899	Missense_Mutation	SNP	T	TCGA-BR-A4QI-01A-12D-A25D-08	40894329	116631899	29732123	77	76102											
GPIHBP1	338328	broad.mit.edu	37	chr8	144297360	144297360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgctcaacctccttgcCggccttggagcaatgggggc	12	15	1	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr8:144297360C>T	uc003yxu.1	+	4	597	c.522C>T	c.(520-522)GCC>GCT	p.A174A		NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high	174	Helical; (Potential).				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity				0	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACCTCCTTGCCGGCCTTGGAG	0.711													T	144297360	C	T	144297360	2	4	130	1	0	0	0	0	0	0	0	1	6612	639	23	1		1	GPIHBP1	8	144297360	Silent	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	27665461	144297360	2066662	78	76103											
IFNA5	3442	broad.mit.edu	37	chr9	21304767	21304767	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgctctgacaacctcccaTgcacaagggctgtatttctt	7	13	3	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr9:21304767T>A	uc011lnh.1	-	1	489	c.489A>T	c.(487-489)GCA>GCT	p.A163A		NM_002169	NP_002160	P01569	IFNA5_HUMAN	interferon, alpha 5 precursor	163					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			ovary(1)	1				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAACCTCCCATGCACAAGGGC	0.408													A	21304767	T	A	21304767	2	1	130	1	0	0	0	0	0	0	0	1	7540	1451	51	5		5	IFNA5	9	21304767	Silent	SNP	T	TCGA-BR-A4QI-01A-12D-A25D-08		21304767	119908664	79	76104											
FRMD3	257019	broad.mit.edu	37	chr9	85863158	85863158	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaatcaaaaaggcgtttTcatctgcttccagatcctca	6	12	4	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr9:85863158T>G	uc004ams.1	-	14	1671	c.1469A>C	c.(1468-1470)GAA>GCA	p.E490A	FRMD3_uc004amr.1_Missense_Mutation_p.E476A|FRMD3_uc004amq.1_Missense_Mutation_p.E147A	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	490						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2						AAAGGCGTTTTCATCTGCTTC	0.478													G	85863158	T	G	85863158	3	3	130	1	0	0	0	0	1	0	0	0	6050	1783	62	5	328	5	FRMD3	9	85863158	Missense_Mutation	SNP	T	TCGA-BR-A4QI-01A-12D-A25D-08	64558391	85863158	55350273	80	76105											
FAM129B	64855	broad.mit.edu	37	chr9	130279138	130279138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgggggtggctgcctacctCggatcttgctggcaaggtgc	16	11	1	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr9:130279138C>T	uc004brh.2	-	8	1173	c.971G>A	c.(970-972)CGA>CAA	p.R324Q	FAM129B_uc004bri.2_Missense_Mutation_p.R311Q|FAM129B_uc004brj.3_Missense_Mutation_p.R324Q	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	324							protein binding				0						CTGCCTACCTCGGATCTTGCT	0.547													T	130279138	C	T	130279138	3	4	130	1	0	0	0	0	1	0	0	0	5437	884	31	1	1297	1	FAM129B	9	130279138	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	44415980	130279138	10934293	81	76106											
KIAA0649	9858	broad.mit.edu	37	chr9	138377878	138377878	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgacgggtccctgtccGcaagcccactcttctactcc	9	17	2	1	rs142927502		TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr9:138377878G>T	uc004cfr.1	+	4	2071	c.1522G>T	c.(1522-1524)GCA>TCA	p.A508S		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	508						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		GTCCCTGTCCGCAAGCCCACT	0.602													T	138377878	G	T	138377878	3	4	130	1	0	0	0	0	1	0	0	0	8187	1087	38	5	1524	5	KIAA0649	9	138377878	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	8098740	138377878	2835553	82	76107											
CUBN	8029	broad.mit.edu	37	chr10	16911742	16911742	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacatttggtgggcgcTtggaaccgcagaatttgcca	11	10	2	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr10:16911742T>A	uc001ioo.2	-	59	9399	c.9347A>T	c.(9346-9348)AAG>ATG	p.K3116M	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.K472M	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3116	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGTGGGCGCTTGGAACCGCA	0.493													A	16911742	T	A	16911742	3	1	130	1	0	0	0	0	1	0	0	0	4051	1609	56	5	1560	5	CUBN	10	16911742	Missense_Mutation	SNP	T	TCGA-BR-A4QI-01A-12D-A25D-08		16911742	118623005	83	76108											
APBB1IP	54518	broad.mit.edu	37	chr10	26830559	26830559	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttgaaaatgtcaacattTactatgggactcagcataaa	7	6	2	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr10:26830559T>C	uc001iss.2	+	11	1414	c.1093T>C	c.(1093-1095)TAC>CAC	p.Y365H	APBB1IP_uc009xks.1_Missense_Mutation_p.Y365H	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	365	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7						TGTCAACATTTACTATGGGAC	0.318													C	26830559	T	C	26830559	3	2	130	1	0	0	0	0	1	0	0	0	760	1754	61	3	1127	3	APBB1IP	10	26830559	Missense_Mutation	SNP	T	TCGA-BR-A4QI-01A-12D-A25D-08	9918817	26830559	108704188	84	76109											
MYPN	84665	broad.mit.edu	37	chr10	69881710	69881710	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caaatcccacagctccaaaaGgattagacctcgtgcctgca	7	14	0	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr10:69881710G>C	uc001jnm.3	+	3	700	c.515G>C	c.(514-516)AGG>ACG	p.R172T	MYPN_uc001jnl.1_Missense_Mutation_p.R172T|MYPN_uc001jnn.3_Intron|MYPN_uc001jno.3_Missense_Mutation_p.R172T|MYPN_uc001jnp.1_Missense_Mutation_p.R172T|MYPN_uc009xps.2_Missense_Mutation_p.R172T|MYPN_uc009xpt.2_Missense_Mutation_p.R172T|MYPN_uc010qit.1_5'UTR|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	172	Interaction with CARP.					nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						AGCTCCAAAAGGATTAGACCT	0.403													C	69881710	G	C	69881710	3	2	130	1	0	0	0	0	1	0	0	0	10098	1000	35	5	517	5	MYPN	10	69881710	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	43051151	69881710	65653037	85	76110											
KIAA0913	23053	broad.mit.edu	37	chr10	75548519	75548519	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaagtttacccaccagtGcctgagcagctacagctccg	10	13	0	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr10:75548519G>A	uc009xrl.2	+	2	332	c.300G>A	c.(298-300)GTG>GTA	p.V100V	KIAA0913_uc001jve.2_Silent_p.V100V|KIAA0913_uc001jvf.2_Silent_p.V100V|KIAA0913_uc001jvh.2_5'Flank	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	100							zinc ion binding			breast(1)	1	Prostate(51;0.0112)					ACCCACCAGTGCCTGAGCAGC	0.517													A	75548519	G	A	75548519	2	1	130	1	0	0	0	0	0	0	0	1	8200	1306	46	2		2	KIAA0913	10	75548519	Silent	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	5666809	75548519	59986228	86	76111											
EIF5AL1	143244	broad.mit.edu	37	chr10	81272670	81272670	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaacatcaaaaggaatgacTtccagctgattggcatccag	8	11	1	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr10:81272670T>C	uc009xrx.2	+	1	314	c.265T>C	c.(265-267)TTC>CTC	p.F89L	uc010qls.1_5'Flank	NM_001099692	NP_001093162	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like	89					mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity				0	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AAGGAATGACTTCCAGCTGAT	0.498													C	81272670	T	C	81272670	3	2	130	1	0	0	0	0	1	0	0	0	5043	1609	56	3	267	3	EIF5AL1	10	81272670	Missense_Mutation	SNP	T	TCGA-BR-A4QI-01A-12D-A25D-08	5724151	81272670	54262077	87	76112											
LRIT1	26103	broad.mit.edu	37	chr10	85994113	85994113	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catagagtcggcagtcacatGcccaggggttgtcctgtagc	13	11	1	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr10:85994113G>T	uc001kcz.1	-	3	633	c.611C>A	c.(610-612)GCA>GAA	p.A204E		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	204	LRRCT.|Lumenal (Potential).					integral to endoplasmic reticulum membrane					0						GCAGTCACATGCCCAGGGGTT	0.527													T	85994113	G	T	85994113	3	4	130	1	0	0	0	0	1	0	0	0	8947	1319	46	5	1268	5	LRIT1	10	85994113	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	4721443	85994113	49540634	88	76113											
TNKS2	80351	broad.mit.edu	37	chr10	93579300	93579301	+	In_Frame_Ins	INS	-	-	AGTGAT													aaatgtcaactgccacgcaaINSgtgatggcagaaaggtactt							TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr10:93579299_93579300A>AAGTGAT	uc001khp.3	+	4	915_916	c.618_619A>AAGTGAT	c.(616-621)gcaagt>gcAAGTGATgt	p.208_209insD		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.	208					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				ACTGCCACGCAAGTGATGGCAG	0.342													AGTGAT	93579301	-	AGTGAT	93579300	7	5	130	1	0	1	1	0	0	0	0	0	16318	72	3	0	637	0	TNKS2	10	93579300	In_Frame_Ins	INS	-	TCGA-BR-A4QI-01A-12D-A25D-08	7585187	93579300	41955447	89	76114											
TNKS2	80351	broad.mit.edu	37	chr10	93582083	93582083	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccattacacaatgcctgttcTtatggtcattatgaagtaac	6	9	2	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr10:93582083T>G	uc001khp.2	+	7	1056	c.759T>G	c.(757-759)TCT>TCG	p.S253S		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	253	ANK 5.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				ATGCCTGTTCTTATGGTCATT	0.333													G	93582083	T	G	93582083	2	3	130	1	0	0	0	0	0	0	0	1	16318	1596	56	5		5	TNKS2	10	93582083	Silent	SNP	T	TCGA-BR-A4QI-01A-12D-A25D-08	2783	93582083	41952664	90	76115											
ZNF518A	9849	broad.mit.edu	37	chr10	97918525	97918525	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgccacttcattgtgaccagTcatttcaaaaacacgagaga	7	10	3	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr10:97918525T>A	uc001klp.2	+	6	3303	c.2446T>A	c.(2446-2448)TCA>ACA	p.S816T	ZNF518A_uc001klo.1_Missense_Mutation_p.S286T|ZNF518A_uc001klq.2_Missense_Mutation_p.S816T|ZNF518A_uc001klr.2_Missense_Mutation_p.S816T	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TTGTGACCAGTCATTTCAAAA	0.383													A	97918525	T	A	97918525	3	1	130	1	0	0	0	0	1	0	0	0	17959	1667	58	5	2448	5	ZNF518A	10	97918525	Missense_Mutation	SNP	T	TCGA-BR-A4QI-01A-12D-A25D-08	4336442	97918525	37616222	91	76116											
MRPL43	84545	broad.mit.edu	37	chr10	102747079	102747079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggctcacctggcgccgCgagacgaggcgccgtcgcgg	16	16	1	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr10:102747079C>T	uc001kry.1	-	1	194	c.122G>A	c.(121-123)CGC>CAC	p.R41H	MRPL43_uc010qpu.1_Missense_Mutation_p.R41H|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_Missense_Mutation_p.R41H|MRPL43_uc001ksb.1_Missense_Mutation_p.R41H|MRPL43_uc001ksd.1_Missense_Mutation_p.R41H|MRPL43_uc001ksc.2_Missense_Mutation_p.R41H|MRPL43_uc001kse.2_Missense_Mutation_p.R41H|C10orf2_uc001ksg.2_5'Flank|C10orf2_uc001ksf.2_5'Flank|C10orf2_uc001ksi.2_5'Flank|C10orf2_uc010qpv.1_5'Flank|C10orf2_uc001ksh.2_5'Flank	NM_176792	NP_789762	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43 isoform b	41					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			skin(1)	1		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		CCTGGCGCCGCGAGACGAGGC	0.682													T	102747079	C	T	102747079	3	4	130	1	0	0	0	0	1	0	0	0	9807	768	27	1	776	1	MRPL43	10	102747079	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	4828554	102747079	32787668	92	76117											
PNLIPRP1	5407	broad.mit.edu	37	chr10	118363625	118363625	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtttggaaataagggaAacactcaccagtacagtatc	8	8	1	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr10:118363625A>T	uc001lco.1	+	11	1165	c.1147A>T	c.(1147-1149)AAC>TAC	p.N383Y	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.N383Y	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	383	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)		AAATAAGGGAAACACTCACCA	0.413													T	118363625	A	T	118363625	3	4	130	1	0	0	0	0	1	0	0	0	12150	14	1	5	1185	5	PNLIPRP1	10	118363625	Missense_Mutation	SNP	A	TCGA-BR-A4QI-01A-12D-A25D-08	15616546	118363625	17171122	93	76118											
RPLP2	6181	broad.mit.edu	37	chr11	812594	812594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagccgtctctgctgccccaGgctctgcagcccctgctgct	10	18	2	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr11:812594G>T	uc001lrq.1	+	4	337	c.232G>T	c.(232-234)GGC>TGC	p.G78C	RPLP2_uc001lrr.1_Missense_Mutation_p.G78C	NM_001004	NP_000995	P05387	RLA2_HUMAN	ribosomal protein P2	78					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTGCCCCAGGCTCTGCAGC	0.637													T	812594	G	T	812594	3	4	130	1	0	0	0	0	1	0	0	0	13606	1000	35	5	242	5	RPLP2	11	812594	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08		812594	134193922	94	76119											
OR8H1	219469	broad.mit.edu	37	chr11	56057747	56057747	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatcccttcccaaagaataAgactttcttggttttaaata	5	8	1	3			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr11:56057747A>G	uc010rje.1	-	1	792	c.792T>C	c.(790-792)TCT>TCC	p.S264S		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					CCAAAGAATAAGACTTTCTTG	0.348													G	56057747	A	G	56057747	2	3	130	1	0	0	0	0	0	0	0	1	11237	59	3	3		3	OR8H1	11	56057747	Silent	SNP	A	TCGA-BR-A4QI-01A-12D-A25D-08	55245153	56057747	78948769	95	76120											
HTR3B	9177	broad.mit.edu	37	chr11	113780172	113780172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttcgtccatgctatattgGatgtggtaaggaccatcttg	11	7	1	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr11:113780172G>A	uc001pok.2	+	2	275	c.208G>A	c.(208-210)GAT>AAT	p.D70N	HTR3B_uc001pol.2_Missense_Mutation_p.D59N	NM_006028	NP_006019	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B	70	Extracellular (Potential).				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TGCTATATTGGATGTGGTAAG	0.433													A	113780172	G	A	113780172	3	1	130	1	0	0	0	0	1	0	0	0	7445	1174	41	4	214	4	HTR3B	11	113780172	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	57722425	113780172	21226344	96	76121											
BCL2L14	79370	broad.mit.edu	37	chr12	12247709	12247709	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggaccccaggggagaatcaGaggtcaaagctcagggcttt	14	9	3	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr12:12247709G>A	uc001rac.2	+	5	991	c.790G>A	c.(790-792)GAG>AAG	p.E264K	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.2_Missense_Mutation_p.E264K|BCL2L14_uc001rae.2_3'UTR	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	BCL2-like 14 isoform 1	264					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			skin(1)	1		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		GGGAGAATCAGAGGTCAAAGC	0.537													A	12247709	G	A	12247709	3	1	130	1	0	0	0	0	1	0	0	0	1372	943	33	4	889	4	BCL2L14	12	12247709	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08		12247709	121604186	97	76122											
GYS2	2998	broad.mit.edu	37	chr12	21689968	21689968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtgacttgatatttaaccGatccctttcagcctcctctt	6	12	2	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr12:21689968G>A	uc001rfb.2	-	16	2287	c.2032C>T	c.(2032-2034)CGG>TGG	p.R678W		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	678					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			lung(1)|skin(1)	2						ATATTTAACCGATCCCTTTCA	0.463													A	21689968	G	A	21689968	3	1	130	1	0	0	0	0	1	0	0	0	6913	1057	37	1	83	1	GYS2	12	21689968	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	9442259	21689968	112161927	98	76123											
RACGAP1	29127	broad.mit.edu	37	chr12	50384086	50384086	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagcaaaaaagttgccttGtcgtcctaggttagtggcag	12	7	0	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr12:50384086G>T	uc001rvt.2	-	19	2174	c.1864C>A	c.(1864-1866)CAA>AAA	p.Q622K	RACGAP1_uc009zlm.1_Missense_Mutation_p.Q622K|RACGAP1_uc001rvs.2_Missense_Mutation_p.Q622K|RACGAP1_uc001rvu.2_Missense_Mutation_p.Q622K	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	622					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			kidney(1)	1						AAGTTGCCTTGTCGTCCTAGG	0.383													T	50384086	G	T	50384086	3	4	130	1	0	0	0	0	1	0	0	0	12977	1386	48	5	38	5	RACGAP1	12	50384086	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	28694118	50384086	83467809	99	76124											
CALCOCO1	57658	broad.mit.edu	37	chr12	54107590	54107590	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcgaggcccagcaggagaGgagcctgggtctccacgctc	14	14	2	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr12:54107590G>A	uc001sef.2	-	13	1830	c.1686C>T	c.(1684-1686)TCC>TCT	p.S562S	CALCOCO1_uc001see.2_Silent_p.S63S|CALCOCO1_uc010som.1_Silent_p.S477S|CALCOCO1_uc010son.1_Silent_p.S439S|CALCOCO1_uc001seh.2_Silent_p.S562S|CALCOCO1_uc009znd.2_Silent_p.S562S|CALCOCO1_uc001seg.2_Silent_p.S387S	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	coiled-coil transcriptional coactivator isoform	562	C-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			ovary(1)	1						CAGCAGGAGAGGAGCCTGGGT	0.617													A	54107590	G	A	54107590	2	1	130	1	0	0	0	0	0	0	0	1	2577	987	35	4		4	CALCOCO1	12	54107590	Silent	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	3723504	54107590	79744305	100	76125											
IKZF4	64375	broad.mit.edu	37	chr12	56428613	56428613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actggagcttccaggatcccGagaagcaggtgagggacctg	15	10	0	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr12:56428613G>A	uc001sjb.1	+	9	1415	c.1256G>A	c.(1255-1257)CGA>CAA	p.R419Q	IKZF4_uc010sqa.1_Missense_Mutation_p.R372Q|IKZF4_uc001sjc.1_Missense_Mutation_p.R419Q|IKZF4_uc001sjd.1_Missense_Mutation_p.R317Q|IKZF4_uc009zoi.1_Missense_Mutation_p.R374Q|IKZF4_uc001sje.1_Missense_Mutation_p.R378Q	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	zinc finger protein, subfamily 1A, 4	419					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCAGGATCCCGAGAAGCAGGT	0.632													A	56428613	G	A	56428613	3	1	130	1	0	0	0	0	1	0	0	0	7617	1058	37	1	1286	1	IKZF4	12	56428613	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	2321023	56428613	77423282	101	76126											
DRAM1	55332	broad.mit.edu	37	chr12	102295137	102295137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaacctgctatttcagcactCctgtttttaacttggtgtct	6	10	2	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr12:102295137C>T	uc001tix.2	+	3	731	c.268C>T	c.(268-270)CCT>TCT	p.P90S	DRAM1_uc010svv.1_Missense_Mutation_p.P90S	NM_018370	NP_060840	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	90					apoptosis|autophagy	integral to membrane|lysosomal membrane				ovary(1)	1						TTTCAGCACTCCTGTTTTTAA	0.383													T	102295137	C	T	102295137	3	4	130	1	0	0	0	0	1	0	0	0	4753	855	30	4	278	4	DRAM1	12	102295137	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	45866524	102295137	31556758	102	76127											
PXN	5829	broad.mit.edu	37	chr12	120660701	120660701	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcgggttatgctgtacagcgTtcagttccagcagcaggcgg	15	10	1	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr12:120660701T>A	uc001txt.2	-	4	589	c.458A>T	c.(457-459)AAC>ATC	p.N153I	PXN_uc001txv.2_Missense_Mutation_p.N20I|PXN_uc001txx.2_Missense_Mutation_p.N20I|PXN_uc001txy.2_Missense_Mutation_p.N153I|PXN_uc001txz.2_RNA|uc001tya.2_5'Flank	NM_001080855	NP_001074324	P49023	PAXI_HUMAN	paxillin isoform 1	153	LD motif 2.				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			ovary(1)|breast(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGTACAGCGTTCAGTTCCAG	0.607													A	120660701	T	A	120660701	3	1	130	1	0	0	0	0	1	0	0	0	12852	1725	60	5	1353	5	PXN	12	120660701	Missense_Mutation	SNP	T	TCGA-BR-A4QI-01A-12D-A25D-08	18365564	120660701	13191194	103	76128											
MTUS2	23281	broad.mit.edu	37	chr13	29933476	29933476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggcccgtgaggctgagCggcagctggtgctgcggctg	19	12	0	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr13:29933476C>T	uc001usl.3	+	6	3071	c.3013C>T	c.(3013-3015)CGG>TGG	p.R1005W		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	995	Localization to the growing distal tip of microtubules.|Potential.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						TGAGGCTGAGCGGCAGCTGGT	0.627													T	29933476	C	T	29933476	3	4	130	1	0	0	0	0	1	0	0	0	9966	759	27	1	3035	1	MTUS2	13	29933476	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08		29933476	85236402	104	76129											
SOHLH2	54937	broad.mit.edu	37	chr13	36748935	36748935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctcaagaactgaagccGcatcattctttctccctttt	5	13	4	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr13:36748935G>A	uc001uvj.2	-	7	802	c.713C>T	c.(712-714)GCG>GTG	p.A238V	SOHLH2_uc010tei.1_Missense_Mutation_p.A315V	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	238	Helix-loop-helix motif.				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		AACTGAAGCCGCATCATTCTT	0.423													A	36748935	G	A	36748935	3	1	130	1	0	0	0	0	1	0	0	0	14924	1087	38	1	584	1	SOHLH2	13	36748935	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	6815459	36748935	78420943	105	76130											
NALCN	259232	broad.mit.edu	37	chr13	101742013	101742013	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccaaaccaaaaatccttaCcttgttttcattgaaattag	3	9	1	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr13:101742013C>A	uc001vox.1	-	30	3678	c.3489_splice	c.e30+1	p.K1163_splice		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1							integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAATCCTTACCTTGTTTTCA	0.393													A	101742013	C	A	101742013	5	1	130	1	0	0	0	0	0	0	1	0	10148	521	18	5	1786	5	NALCN	13	101742013	Splice_Site	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	64993078	101742013	13427865	106	76131											
CARS2	79587	broad.mit.edu	37	chr13	111329399	111329399	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccagaacacctcctggggtTtggccgccttccacagggcg	12	16	0	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr13:111329399T>A	uc001vrd.2	-	7	747	c.707A>T	c.(706-708)AAA>ATA	p.K236I	CARS2_uc010tjm.1_RNA	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial	236					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding				0	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CTCCTGGGGTTTGGCCGCCTT	0.627													A	111329399	T	A	111329399	3	1	130	1	0	0	0	0	1	0	0	0	2658	1841	64	5	1023	5	CARS2	13	111329399	Missense_Mutation	SNP	T	TCGA-BR-A4QI-01A-12D-A25D-08	9587386	111329399	3840479	107	76132											
SIPA1L1	26037	broad.mit.edu	37	chr14	72054702	72054702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgatttctacatgcggcGcttccggtcccaaaatggca	10	11	1	2	rs146483394		TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr14:72054702G>A	uc001xms.2	+	2	461	c.113G>A	c.(112-114)CGC>CAC	p.R38H	SIPA1L1_uc001xmt.2_Missense_Mutation_p.R38H|SIPA1L1_uc001xmu.2_Missense_Mutation_p.R38H|SIPA1L1_uc001xmv.2_Missense_Mutation_p.R38H	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	38					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TACATGCGGCGCTTCCGGTCC	0.547													A	72054702	G	A	72054702	3	1	130	1	0	0	0	0	1	0	0	0	14329	1087	38	1	115	1	SIPA1L1	14	72054702	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08		72054702	35294838	108	76133											
FLRT2	23768	broad.mit.edu	37	chr14	86089570	86089570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatatgcacaaaaaggggcGctacacctcccagaagtgga	11	11	0	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr14:86089570G>A	uc001xvr.2	+	2	2479	c.1712G>A	c.(1711-1713)CGC>CAC	p.R571H	FLRT2_uc010atd.2_Missense_Mutation_p.R571H	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	571	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AAAAAGGGGCGCTACACCTCC	0.562													A	86089570	G	A	86089570	3	1	130	1	0	0	0	0	1	0	0	0	5939	1087	38	1	1714	1	FLRT2	14	86089570	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	14034868	86089570	21259970	109	76134											
SERPINA10	51156	broad.mit.edu	37	chr14	94756415	94756415	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagtctctttgacatcAaaatccttgtggatgaaggc	9	7	2	3			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr14:94756415A>G	uc001yct.2	-	2	982	c.516T>C	c.(514-516)TTT>TTC	p.F172F	SERPINA10_uc001ycu.3_Silent_p.F172F	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	serine (or cysteine) proteinase inhibitor, clade	172					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CTTTGACATCAAAATCCTTGT	0.483													G	94756415	A	G	94756415	2	3	130	1	0	0	0	0	0	0	0	1	14087	127	5	3		3	SERPINA10	14	94756415	Silent	SNP	A	TCGA-BR-A4QI-01A-12D-A25D-08	8666845	94756415	12593125	110	76135											
CRIP2	1397	broad.mit.edu	37	chr14	105945789	105945789	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacgacggccagccctActgccacaagccctgctatg	9	18	0	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr14:105945789A>G	uc001yrd.1	+	7	587	c.518A>G	c.(517-519)TAC>TGC	p.Y173C	CRIP2_uc010tyr.1_Missense_Mutation_p.Y247C|CRIP2_uc001yre.1_Missense_Mutation_p.Y245C|CRIP2_uc001yrf.1_RNA|CRIP2_uc001yrg.2_RNA|CRIP2_uc001yrh.1_RNA	NM_001312	NP_001303	P52943	CRIP2_HUMAN	cysteine-rich protein 2	173	LIM zinc-binding 2.						zinc ion binding				0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		GGCCAGCCCTACTGCCACAAG	0.637													G	105945789	A	G	105945789	3	3	130	1	0	0	0	0	1	0	0	0	3875	391	14	3	544	3	CRIP2	14	105945789	Missense_Mutation	SNP	A	TCGA-BR-A4QI-01A-12D-A25D-08	11189374	105945789	1403751	111	76136											
C15orf2	23742	broad.mit.edu	37	chr15	24922516	24922516	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttctgaccccccaacacctcCtagctccacaccctccttca	2	22	2	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr15:24922516C>G	uc001ywo.2	+	1	1976	c.1502C>G	c.(1501-1503)CCT>CGT	p.P501R		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	501	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCAACACCTCCTAGCTCCACA	0.517													G	24922516	C	G	24922516	3	3	130	1	0	0	0	0	1	0	0	0	1784	681	24	5	1504	5	C15orf2	15	24922516	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08		24922516	77608876	112	76137											
LTK	4058	broad.mit.edu	37	chr15	41805064	41805064	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgcaggtagaaaacagccaaGacccctcggtgcctgagagc	12	13	0	3			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr15:41805064G>T	uc001zoa.3	-	3	378	c.200C>A	c.(199-201)TCT>TAT	p.S67Y	LTK_uc001zob.3_Missense_Mutation_p.S67Y|LTK_uc010ucx.1_Missense_Mutation_p.S67Y|LTK_uc010bcg.2_Intron	NM_002344	NP_002335	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase isoform 1	67	Extracellular (Potential).				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|central_nervous_system(1)	7		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AAACAGCCAAGACCCCTCGGT	0.672										TSP Lung(18;0.14)			T	41805064	G	T	41805064	3	4	130	1	0	0	0	0	1	0	0	0	9080	942	33	5	2466	5	LTK	15	41805064	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	16882548	41805064	60726328	113	76138											
SLC12A1	6557	broad.mit.edu	37	chr15	48521412	48521412	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctactatcttatttccagaAgtttagggcccgagttcggt	9	10	1	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr15:48521412A>C	uc001zwn.3	+	6	967	c.751A>C	c.(751-753)AGT>CGT	p.S251R	SLC12A1_uc010uew.1_Missense_Mutation_p.S57R|SLC12A1_uc010bem.2_Missense_Mutation_p.S251R|SLC12A1_uc010uex.1_Missense_Mutation_p.S251R|SLC12A1_uc001zwq.3_Missense_Mutation_p.S22R|SLC12A1_uc001zwr.3_5'UTR	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	251	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TATTTCCAGAAGTTTAGGGCC	0.428													C	48521412	A	C	48521412	3	2	130	1	0	0	0	0	1	0	0	0	14382	72	3	5	869	5	SLC12A1	15	48521412	Missense_Mutation	SNP	A	TCGA-BR-A4QI-01A-12D-A25D-08	6716348	48521412	54009980	114	76139											
FBN1	2200	broad.mit.edu	37	chr15	48766498	48766498	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatccttccttgcacagacaGcggtaagatcccatggtatt	8	11	0	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr15:48766498G>A	uc001zwx.1	-	34	4492	c.4164C>T	c.(4162-4164)CGC>CGT	p.R1388R		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1388	EGF-like 23; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGCACAGACAGCGGTAAGATC	0.448													A	48766498	G	A	48766498	2	1	130	1	0	0	0	0	0	0	0	1	5702	958	34	2		2	FBN1	15	48766498	Silent	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	245086	48766498	53764894	115	76140											
PDXDC1	23042	broad.mit.edu	37	chr16	15122811	15122811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaggcactcgtgtgacgcGctgaatcgctgggtgagaat	16	8	0	4	rs150807075	byFrequency	TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr16:15122811G>A	uc002dda.3	+	15	1505	c.1281G>A	c.(1279-1281)GCG>GCA	p.A427A	PDXDC1_uc010uzl.1_Silent_p.A412A|PDXDC1_uc010uzm.1_Silent_p.A336A|PDXDC1_uc002dcz.2_Silent_p.A404A|PDXDC1_uc002ddb.3_Silent_p.A400A|PDXDC1_uc010uzn.1_Silent_p.A399A|PDXDC1_uc002ddc.2_Silent_p.A427A	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain	427					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	CGTGTGACGCGCTGAATCGCT	0.587													A	15122811	G	A	15122811	2	1	130	1	0	0	0	0	0	0	0	1	11696	1074	38	1		1	PDXDC1	16	15122811	Silent	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08		15122811	75231942	116	76141											
DPEP1	1800	broad.mit.edu	37	chr16	89702385	89702385	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caggacgagagggccaacctGaccaccttggccggcacaca	12	15	0	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr16:89702385G>A	uc010cin.2	+	3	377	c.174G>A	c.(172-174)CTG>CTA	p.L58L	DPEP1_uc002fnr.3_Silent_p.L58L|DPEP1_uc002fns.3_Silent_p.L58L	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN	dipeptidase 1 precursor	58					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(1)	1		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GGGCCAACCTGACCACCTTGG	0.642													A	89702385	G	A	89702385	2	1	130	1	0	0	0	0	0	0	0	1	4713	1277	45	4		4	DPEP1	16	89702385	Silent	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	74579574	89702385	652368	117	76142											
TUBB3	10381	broad.mit.edu	37	chr16	89986303	89986303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtacgtccacatgctggccCgggcctgccagcacgcccag	12	17	0	0	rs144239448	by1000genomes	TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr16:89986303C>T	uc002fpf.2	+	1	1045	c.637C>T	c.(637-639)CGG>TGG	p.R213W	MC1R_uc002fpe.3_Missense_Mutation_p.R213W|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	Error:Variant_position_missing_in_Q13509_after_alignment					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.R213C(1)		ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CATGCTGGCCCGGGCCTGCCA	0.657													T	89986303	C	T	89986303	3	4	130	1	0	0	0	0	1	0	0	0	16754	643	23	1		1	TUBB3	16	89986303	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	283918	89986303	368450	118	76143											
ZZEF1	23140	broad.mit.edu	37	chr17	3921227	3921227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccgctgagccagggacCgtatcctttcatctgtggtg	12	13	2	1	rs139593441		TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr17:3921227C>T	uc002fxe.2	-	47	7608	c.7544G>A	c.(7543-7545)CGG>CAG	p.R2515Q	ZZEF1_uc002fxg.1_5'Flank	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2515							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						AGCCAGGGACCGTATCCTTTC	0.517													T	3921227	C	T	3921227	3	4	130	1	0	0	0	0	1	0	0	0	18252	652	23	1	1377	1	ZZEF1	17	3921227	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08		3921227	77273983	119	76144											
RABEP1	9135	broad.mit.edu	37	chr17	5264577	5264577	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgccatctggagatcctttCagtaaatcggacaatgacat	8	9	2	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr17:5264577C>T	uc002gbm.3	+	9	1394	c.1170C>T	c.(1168-1170)TTC>TTT	p.F390F	RABEP1_uc010clc.1_Silent_p.F383F|RABEP1_uc010cld.1_Silent_p.F347F|RABEP1_uc010vsw.1_Silent_p.F347F|RABEP1_uc002gbl.3_Silent_p.F390F|NUP88_uc002gbn.2_RNA	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	390					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2						GAGATCCTTTCAGTAAATCGG	0.463													T	5264577	C	T	5264577	2	4	130	1	0	0	0	0	0	0	0	1	12961	825	29	4		4	RABEP1	17	5264577	Silent	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	1343350	5264577	75930633	120	76145											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	9	16	3	0	rs28934574		TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr17:7577094G>A	uc002gim.2	-	8	1038	c.844C>T	c.(844-846)CGG>TGG	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	282	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7577094	G	A	7577094	3	1	130	1	0	0	0	0	1	0	0	0	16378	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	2312517	7577094	73618116	121	76146											
KCNAB3	9196	broad.mit.edu	37	chr17	7829022	7829022	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatgatgtgctttcggcTtaaacctcgctcggtttctg	9	11	2	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr17:7829022T>C	uc002gjm.1	-	7	517	c.517A>G	c.(517-519)AGC>GGC	p.S173G	KCNAB3_uc010vul.1_RNA	NM_004732	NP_004723	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related	173						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(1)	1		Prostate(122;0.157)				TGCTTTCGGCTTAAACCTCGC	0.502													C	7829022	T	C	7829022	3	2	130	1	0	0	0	0	1	0	0	0	8011	1609	56	3	729	3	KCNAB3	17	7829022	Missense_Mutation	SNP	T	TCGA-BR-A4QI-01A-12D-A25D-08	251928	7829022	73366188	122	76147											
DNAH9	1770	broad.mit.edu	37	chr17	11554622	11554622	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagagcagcagaggagacTttgaactggaaaacagaagg	13	7	1	5			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr17:11554622T>G	uc002gne.2	+	13	2402	c.2334T>G	c.(2332-2334)ACT>ACG	p.T778T	DNAH9_uc010coo.2_Silent_p.T72T	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	778	Stem (By similarity).|Potential.				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGAGGAGACTTTGAACTGGA	0.428													G	11554622	T	G	11554622	2	3	130	1	0	0	0	0	0	0	0	1	4608	1596	56	5		5	DNAH9	17	11554622	Silent	SNP	T	TCGA-BR-A4QI-01A-12D-A25D-08	3725600	11554622	69640588	123	76148											
SGK494	124923	broad.mit.edu	37	chr17	26940497	26940498	+	Frame_Shift_Del	DEL	CT	CT	-													ctaatgggcctaatgggaaaCtctggtagaaagaggttgat							TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr17:26940497_26940498delCT	uc002hbr.1	-	2	316_317	c.284_285delAG	c.(283-285)GAGfs	p.E95fs	SGK494_uc010waq.1_Frame_Shift_Del_p.E95fs|SGK494_uc010war.1_RNA|uc010crq.1_5'Flank|uc002hbs.1_Intron	NM_144610	NP_653211			uncharacterized serine/threonine-protein kinase												0						TAATGGGAAACTCTGGTAGAAA	0.52											OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	26940498	CT	-	26940497	7	5	130	1	0	1	0	1	0	0	0	0	14213	564	20	0	991	0	SGK494	17	26940497	Frame_Shift_Del	DEL	CT	TCGA-BR-A4QI-01A-12D-A25D-08	15385875	26940497	54254713	124	76149											
CCL8	6355	broad.mit.edu	37	chr17	32647376	32647376	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagagctacacaagaatcacCaacatccaatgtcccaagga	7	12	1	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr17:32647376C>A	uc002hib.2	+	2	620	c.165C>A	c.(163-165)ACC>ACA	p.T55T		NM_005623	NP_005614	P80075	CCL8_HUMAN	small inducible cytokine A8 precursor	55					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity				0		Ovarian(249;0.0443)|Breast(31;0.151)				CAAGAATCACCAACATCCAAT	0.433													A	32647376	C	A	32647376	2	1	130	1	0	0	0	0	0	0	0	1	2907	581	21	5		5	CCL8	17	32647376	Silent	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	5706879	32647376	48547834	125	76150											
CDC6	990	broad.mit.edu	37	chr17	38447729	38447729	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtctggcacaggcacttgcTaccagcaagcaaagctggtc	11	12	1	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr17:38447729T>A	uc002huj.1	+	4	679	c.469T>A	c.(469-471)TAC>AAC	p.Y157N		NM_001254	NP_001245	Q99741	CDC6_HUMAN	cell division cycle 6 protein	157					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			ovary(2)|breast(1)	3						AGGCACTTGCTACCAGCAAGC	0.493													A	38447729	T	A	38447729	3	1	130	1	0	0	0	0	1	0	0	0	3083	1522	53	5	479	5	CDC6	17	38447729	Missense_Mutation	SNP	T	TCGA-BR-A4QI-01A-12D-A25D-08	5800353	38447729	42747481	126	76151											
KRT25	147183	broad.mit.edu	37	chr17	38907471	38907471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgctctgcaagggcttcGtactcagctcgcatgttgtt	10	11	3	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr17:38907471G>A	uc002hve.2	-	4	838	c.777C>T	c.(775-777)TAC>TAT	p.Y259Y		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	259	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)				CAAGGGCTTCGTACTCAGCTC	0.572													A	38907471	G	A	38907471	2	1	130	1	0	0	0	0	0	0	0	1	8462	1140	40	1		1	KRT25	17	38907471	Silent	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	459742	38907471	42287739	127	76152											
KRT26	353288	broad.mit.edu	37	chr17	38927474	38927474	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatgctggcattgcagatGgtcgcagaaataatctaaat	9	7	1	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr17:38927474G>A	uc002hvf.2	-	2	502	c.456C>T	c.(454-456)ACC>ACT	p.T152T		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	keratin 26	152	Rod.|Coil 1B.					intermediate filament	structural molecule activity				0		Breast(137;0.00526)				CATTGCAGATGGTCGCAGAAA	0.358													A	38927474	G	A	38927474	2	1	130	1	0	0	0	0	0	0	0	1	8463	1335	47	4		4	KRT26	17	38927474	Silent	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	20003	38927474	42267736	128	76153											
MLX	6945	broad.mit.edu	37	chr17	40721585	40721585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaggaggaggtgtccaCgttacgcaaggatgtcaccg	16	9	1	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr17:40721585C>T	uc002iag.2	+	6	664	c.599C>T	c.(598-600)ACG>ATG	p.T200M	MLX_uc002iaf.2_Missense_Mutation_p.T146M|MLX_uc002iah.2_Missense_Mutation_p.T116M	NM_170607	NP_733752	Q9UH92	MLX_HUMAN	transcription factor-like protein 4 isoform	200					energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		GAGGTGTCCACGTTACGCAAG	0.488													T	40721585	C	T	40721585	3	4	130	1	0	0	0	0	1	0	0	0	9635	536	19	1	621	1	MLX	17	40721585	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	1794111	40721585	40473625	129	76154											
DSG4	147409	broad.mit.edu	37	chr18	28980860	28980860	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acagatatatcatagggcatGatgcaggcagctggttaaaa	11	6	1	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr18:28980860G>A	uc002kwq.2	+	10	1429	c.1294G>A	c.(1294-1296)GAT>AAT	p.D432N	DSG4_uc002kwr.2_Missense_Mutation_p.D432N	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2 preproprotein	432	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CATAGGGCATGATGCAGGCAG	0.299													A	28980860	G	A	28980860	3	1	130	1	0	0	0	0	1	0	0	0	4779	1290	45	4	1332	4	DSG4	18	28980860	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08		28980860	49096388	130	76155											
LINGO3	645191	broad.mit.edu	37	chr19	2290977	2290977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaggtgcgcctggtgccGcagcgcggcggccggcacgg	21	13	0	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr19:2290977G>A	uc010dsx.1	-	2	927	c.799C>T	c.(799-801)CGG>TGG	p.R267W	SPPL2B_uc010dsw.1_Intron|uc002lvo.1_5'UTR	NM_001101391	NP_001094861	P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	267	Extracellular (Potential).|LRR 8.					integral to membrane					0						GCCTGGTGCCGCAGCGCGGCG	0.721													A	2290977	G	A	2290977	3	1	130	1	0	0	0	0	1	0	0	0	8816	1086	38	1	983	1	LINGO3	19	2290977	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08		2290977	56838006	131	76156											
ACTL9	284382	broad.mit.edu	37	chr19	8808335	8808335	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtcccaggggcaggccGgcctggagcagcatctccgc	15	15	1	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr19:8808335G>A	uc002mkl.2	-	1	838	c.717C>T	c.(715-717)GCC>GCT	p.A239A		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	239						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						GGGGCAGGCCGGCCTGGAGCA	0.657													A	8808335	G	A	8808335	2	1	130	1	0	0	0	0	0	0	0	1	203	1103	39	1		1	ACTL9	19	8808335	Silent	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	6517358	8808335	50320648	132	76157											
MUC16	94025	broad.mit.edu	37	chr19	9059771	9059771	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctgaggttaccacattggtCatctccagtttctctgtatc	7	12	3	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr19:9059771C>A	uc002mkp.2	-	3	27879	c.27675G>T	c.(27673-27675)ATG>ATT	p.M9225I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9227	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCACATTGGTCATCTCCAGTT	0.468													A	9059771	C	A	9059771	3	1	130	1	0	0	0	0	1	0	0	0	9973	826	29	5	16176	5	MUC16	19	9059771	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	251436	9059771	50069212	133	76158											
CCDC151	115948	broad.mit.edu	37	chr19	11531515	11531515	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacgagtctaggacctccgAgagcgacggtgcttcttgtg	15	10	2	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr19:11531515A>C	uc002mrs.2	-	13	1919	c.1776T>G	c.(1774-1776)TCT>TCG	p.S592S	CCDC151_uc002mrr.2_Silent_p.S527S|CCDC151_uc010dxz.2_Silent_p.S532S|RGL3_uc002mrn.2_5'Flank|RGL3_uc002mrm.2_5'Flank|RGL3_uc002mro.2_5'Flank|RGL3_uc002mrp.2_5'Flank|RGL3_uc002mrq.2_5'Flank	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	592										ovary(1)	1						AGGACCTCCGAGAGCGACGGT	0.627													C	11531515	A	C	11531515	2	2	130	1	0	0	0	0	0	0	0	1	2786	291	11	5		5	CCDC151	19	11531515	Silent	SNP	A	TCGA-BR-A4QI-01A-12D-A25D-08	2471744	11531515	47597468	134	76159											
CHERP	10523	broad.mit.edu	37	chr19	16641681	16641681	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagcagctcccgggcctGcttgcgctggctgtgaggga	17	13	0	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr19:16641681G>A	uc002nei.1	-	6	759	c.685C>T	c.(685-687)CAG>TAG	p.Q229*	MED26_uc002nee.2_Intron	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	229	CID.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						TCCCGGGCCTGCTTGCGCTGG	0.692													A	16641681	G	A	16641681	4	1	130	1	0	0	0	0	0	1	0	0	3336	1328	46	2	2113	2	CHERP	19	16641681	Nonsense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	5110166	16641681	42487302	135	76160											
NWD1	284434	broad.mit.edu	37	chr19	16884108	16884108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccgggaggacccctccGggcaactctcagcggctgtc	13	18	1	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr19:16884108G>A	uc002neu.3	+	11	3004	c.2582G>A	c.(2581-2583)CGG>CAG	p.R861Q	NWD1_uc002net.3_Missense_Mutation_p.R726Q|NWD1_uc002nev.3_Missense_Mutation_p.R655Q			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	861							ATP binding			skin(3)|ovary(2)|pancreas(2)	7						GGACCCCTCCGGGCAACTCTC	0.627													A	16884108	G	A	16884108	3	1	130	1	0	0	0	0	1	0	0	0	10781	1116	39	1	2203	1	NWD1	19	16884108	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	242427	16884108	42244875	136	76161											
FBXO46	23403	broad.mit.edu	37	chr19	46215503	46215503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggtggctccgggggcccGtccggcccgcggttctggag	21	13	1	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr19:46215503G>A	uc002pcy.2	-	2	1376	c.1251C>T	c.(1249-1251)GAC>GAT	p.D417D	FBXO46_uc002pcz.2_Silent_p.D417D	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	417							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CCGGGGGCCCGTCCGGCCCGC	0.726													A	46215503	G	A	46215503	2	1	130	1	0	0	0	0	0	0	0	1	5755	1136	40	1		1	FBXO46	19	46215503	Silent	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	29331395	46215503	12913480	137	76162											
CCDC114	93233	broad.mit.edu	37	chr19	48806095	48806095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcatccttgctggcacGtgcgctcaccaaagcctcct	9	16	2	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr19:48806095G>A	uc002pir.2	-	10	1668	c.985C>T	c.(985-987)CGT>TGT	p.R329C	CCDC114_uc002piq.2_Missense_Mutation_p.R138C|CCDC114_uc002pio.2_Missense_Mutation_p.R366C|CCDC114_uc002pis.1_Missense_Mutation_p.R9C|CCDC114_uc002pit.1_Missense_Mutation_p.R366C	NM_144577	NP_653178	Q96M63	CC114_HUMAN	coiled-coil domain containing 114 isoform 2	329	Potential.									ovary(1)	1		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TTGCTGGCACGTGCGCTCACC	0.607													A	48806095	G	A	48806095	3	1	130	1	0	0	0	0	1	0	0	0	2751	1145	40	1	1047	1	CCDC114	19	48806095	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	2590592	48806095	10322888	138	76163											
KLK8	11202	broad.mit.edu	37	chr19	51501058	51501058	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcacagaccatgccatctgtGatctgccccgggtaagcatc	10	14	2	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr19:51501058G>T	uc002pur.1	-	5	755	c.576C>A	c.(574-576)ATC>ATA	p.I192I	KLK8_uc002puq.1_Silent_p.I237I|KLK8_uc002pus.1_Silent_p.I51I|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Silent_p.I192I|KLK9_uc002puv.1_RNA	NM_007196	NP_009127	O60259	KLK8_HUMAN	kallikrein 8 isoform 1 preproprotein	192	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TGCCATCTGTGATCTGCCCCG	0.512													T	51501058	G	T	51501058	2	4	130	1	0	0	0	0	0	0	0	1	8410	1280	45	5		5	KLK8	19	51501058	Silent	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	2694963	51501058	7627925	139	76164											
C20orf26	26074	broad.mit.edu	37	chr20	20243713	20243713	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaaccatttcactctcaaCgaggaagaggattgctttaa	8	9	2	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr20:20243713C>T	uc002wru.2	+	21	2518	c.2442C>T	c.(2440-2442)AAC>AAT	p.N814N	C20orf26_uc010zse.1_Silent_p.N794N|C20orf26_uc002wrw.2_RNA|C20orf26_uc002wrv.2_Silent_p.N170N	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	814										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		TCACTCTCAACGAGGAAGAGG	0.478													T	20243713	C	T	20243713	2	4	130	1	0	0	0	0	0	0	0	1	2106	535	19	1		1	C20orf26	20	20243713	Silent	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08		20243713	42781807	140	76165											
TSHZ2	128553	broad.mit.edu	37	chr20	51870644	51870644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacaggggccagcagattccGatgccgacagtgcagcgcgg	15	13	0	1	rs145172538	byFrequency	TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr20:51870644G>A	uc002xwo.2	+	2	1603	c.647G>A	c.(646-648)CGA>CAA	p.R216Q		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	216	C2H2-type 1.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			AGCAGATTCCGATGCCGACAG	0.562													A	51870644	G	A	51870644	3	1	130	1	0	0	0	0	1	0	0	0	16621	1058	37	1	653	1	TSHZ2	20	51870644	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	31626931	51870644	11154876	141	76166											
DIDO1	11083	broad.mit.edu	37	chr20	61512623	61512623	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagtggccaggcgcctcgccTgccgggggtccctgtggttt	16	14	0	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr20:61512623T>A	uc002ydr.1	-	16	4949	c.4685A>T	c.(4684-4686)CAG>CTG	p.Q1562L	DIDO1_uc002yds.1_Missense_Mutation_p.Q1562L	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1562					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GCGCCTCGCCTGCCGGGGGTC	0.692													A	61512623	T	A	61512623	3	1	130	1	0	0	0	0	1	0	0	0	4522	1580	55	5	2041	5	DIDO1	20	61512623	Missense_Mutation	SNP	T	TCGA-BR-A4QI-01A-12D-A25D-08	9641979	61512623	1512897	142	76167											
DGCR14	8220	broad.mit.edu	37	chr22	19130142	19130142	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtttcaaatgtggctggagtCacatctaggggaagagaggg	16	5	3	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr22:19130142C>T	uc002zou.2	-	3	346	c.309G>A	c.(307-309)GTG>GTA	p.V103V	DGCR14_uc002zot.2_Silent_p.V24V|DGCR14_uc002zov.2_RNA	NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region protein 14	103					nervous system development	catalytic step 2 spliceosome				ovary(1)	1	Colorectal(54;0.0993)					TGGCTGGAGTCACATCTAGGG	0.602													T	19130142	C	T	19130142	2	4	130	1	0	0	0	0	0	0	0	1	4460	813	29	4		4	DGCR14	22	19130142	Silent	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08		19130142	32174424	143	76168											
MYO18B	84700	broad.mit.edu	37	chr22	26422846	26422846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgacgagggaaacctctcGctgagggttggggcaaagtc	16	8	1	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr22:26422846G>A	uc003abz.1	+	43	7156	c.6906G>A	c.(6904-6906)TCG>TCA	p.S2302S	MYO18B_uc003aca.1_Silent_p.S2183S|MYO18B_uc010guy.1_Silent_p.S2184S|MYO18B_uc010guz.1_Silent_p.S2182S|MYO18B_uc011aka.1_Silent_p.S1456S|MYO18B_uc011akb.1_Silent_p.S1815S|MYO18B_uc010gva.1_Silent_p.S285S|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2302						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						GAAACCTCTCGCTGAGGGTTG	0.617													A	26422846	G	A	26422846	2	1	130	1	0	0	0	0	0	0	0	1	10066	1074	38	1		1	MYO18B	22	26422846	Silent	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	7292704	26422846	24881720	144	76169											
DMC1	11144	broad.mit.edu	37	chr22	38962648	38962648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactttggcttctgagagtcCtttgacattgcatagagctc	9	9	1	3			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr22:38962648C>T	uc003avz.1	-	4	365	c.190G>A	c.(190-192)GGA>AGA	p.G64R	DMC1_uc011anv.1_Missense_Mutation_p.G64R|DMC1_uc003awa.1_Missense_Mutation_p.G64R	NM_007068	NP_008999	Q14565	DMC1_HUMAN	DMC1 dosage suppressor of mck1 homolog	64					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			ovary(1)	1	Melanoma(58;0.0286)					TCTGAGAGTCCTTTGACATTG	0.398								Homologous_recombination					T	38962648	C	T	38962648	3	4	130	1	0	0	0	0	1	0	0	0	4579	690	24	4	876	4	DMC1	22	38962648	Missense_Mutation	SNP	C	TCGA-BR-A4QI-01A-12D-A25D-08	12539802	38962648	12341918	145	76170											
MXRA5	25878	broad.mit.edu	37	chrX	3239828	3239828	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaagatgaatatatttttcTggtggttgtcatgtaatcta	9	3	3	2	rs41297257	byFrequency	TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chrX:3239828T>C	uc004crg.3	-	5	4055	c.3898A>G	c.(3898-3900)AGA>GGA	p.R1300G		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1300						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TATATTTTTCTGGTGGTTGTC	0.368													C	3239828	T	C	3239828	3	2	130	1	0	0	0	0	1	0	0	0	10003	1588	55	3	4600	3	MXRA5	23	3239828	Missense_Mutation	SNP	T	TCGA-BR-A4QI-01A-12D-A25D-08		3239828	152030732	146	76171											
MSN	4478	broad.mit.edu	37	chrX	64957071	64957071	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagacccgtagggctctggaActtgagcaggaacggaagcg	15	10	1	2			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chrX:64957071A>C	uc004dwf.2	+	10	1320	c.1122A>C	c.(1120-1122)GAA>GAC	p.E374D		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	374					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						GGGCTCTGGAACTTGAGCAGG	0.562			T	ALK	ALCL								C	64957071	A	C	64957071	3	2	130	1	0	0	0	0	1	0	0	0	9885	40	2	5	1160	5	MSN	23	64957071	Missense_Mutation	SNP	A	TCGA-BR-A4QI-01A-12D-A25D-08	61717243	64957071	90313489	147	76172											
DOCK11	139818	broad.mit.edu	37	chrX	117752692	117752692	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acacaagataccagcacaagGtaaggatatccatgcagtca	8	10	1	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chrX:117752692G>C	uc004eqp.2	+	31	3534	c.3471_splice	c.e31+1	p.K1157_splice	DOCK11_uc004eqq.2_Splice_Site_p.K936_splice	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11						blood coagulation	cytosol	GTP binding			ovary(3)	3						CCAGCACAAGGTAAGGATATC	0.338													C	117752692	G	C	117752692	5	2	130	1	0	0	0	0	0	0	1	0	4686	1275	44	5	3594	5	DOCK11	23	117752692	Splice_Site	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	52795621	117752692	37517868	148	76173											
ATP11C	286410	broad.mit.edu	37	chrX	138871582	138871582	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttgtggccatctatgcaGcattcaatgaattccatgct	7	9	2	1			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chrX:138871582G>A	uc004faz.2	-	13	1380	c.1281C>T	c.(1279-1281)TGC>TGT	p.C427C	ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Silent_p.C427C	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	427	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					CATCTATGCAGCATTCAATGA	0.343													A	138871582	G	A	138871582	2	1	130	1	0	0	0	0	0	0	0	1	1121	963	34	2		2	ATP11C	23	138871582	Silent	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	21118890	138871582	16398978	149	76174											
MAGEA3	4102	broad.mit.edu	37	chrX	151935401	151935401	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggggacctgccggtactccaGgtagttttcctgcacgaaat	12	11	0	0			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chrX:151935401G>C	uc004fgp.2	-	3	975	c.766C>G	c.(766-768)CTG>GTG	p.L256V		NM_005362	NP_005353	P43357	MAGA3_HUMAN	melanoma antigen family A, 3	256	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					CGGTACTCCAGGTAGTTTTCC	0.542													C	151935401	G	C	151935401	3	2	130	1	0	0	0	0	1	0	0	0	9167	991	35	5	182	5	MAGEA3	23	151935401	Missense_Mutation	SNP	G	TCGA-BR-A4QI-01A-12D-A25D-08	13063819	151935401	3335159	150	76175											
DVL1	1855	broad.mit.edu	37	chr1	1273434	1273434	+	Frame_Shift_Del	DEL	G	G	-													aggcaggcgggaagcagggtGggggtcccgggtactggtag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:1273434delG	uc001aer.3	-	14	1609	c.1562delC	c.(1561-1563)CCAfs	p.P521fs	DVL1_uc002quu.2_Frame_Shift_Del_p.P263fs|DVL1_uc009vka.2_Frame_Shift_Del_p.P204fs|DVL1_uc001aeu.1_Frame_Shift_Del_p.P280fs	NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	546					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GAAGCAGGGTGGGGGTCCCGG	0.692													-	1273434	G	-	1273434	7	5	131	1	0	1	0	1	0	0	0	0	4835	1348	47	0	458	0	DVL1	1	1273434	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08		1273434	247977187	1	76176											
MXRA8	54587	broad.mit.edu	37	chr1	1290355	1290355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggtccagcaggcggtccGcgcggtcgtgcgggaccccg	18	14	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:1290355G>A	uc001aew.2	-	5	687	c.656C>T	c.(655-657)GCG>GTG	p.A219V	MXRA8_uc001aex.3_Missense_Mutation_p.A219V|MXRA8_uc001aey.3_Missense_Mutation_p.A219V|MXRA8_uc010nyl.1_Missense_Mutation_p.A219V|MXRA8_uc001aez.2_Missense_Mutation_p.A118V|MXRA8_uc001afa.2_Missense_Mutation_p.A210V	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	219	Ig-like V-type 2.|Extracellular (Potential).					integral to membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CAGGCGGTCCGCGCGGTCGTG	0.736													A	1290355	G	A	1290355	3	1	131	1	0	0	0	0	1	0	0	0	10005	1087	38	1	696	1	MXRA8	1	1290355	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	16921	1290355	247960266	2	76177											
CCNL2	81669	broad.mit.edu	37	chr1	1322694	1322694	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacctcgagcgctctcgtcGctgatctctgtagtaatgac	10	13	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:1322694G>A	uc001afi.2	-	11	1512	c.1480C>T	c.(1480-1482)CGA>TGA	p.R494*	CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Nonsense_Mutation_p.R272*|CCNL2_uc001afg.1_Nonsense_Mutation_p.R272*|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	cyclin L2 isoform A	494					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CGCTCTCGTCGCTGATCTCTG	0.592													A	1322694	G	A	1322694	4	1	131	1	0	0	0	0	0	1	0	0	2932	1095	38	1	86	1	CCNL2	1	1322694	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	32339	1322694	247927927	3	76178											
NADK	65220	broad.mit.edu	37	chr1	1685501	1685501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctctgaccttcagctcgaCccctgcggggaccacgatgg	13	15	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:1685501C>T	uc009vkw.2	-	10	1211	c.1090G>A	c.(1090-1092)GTC>ATC	p.V364I	NADK_uc001aic.2_Missense_Mutation_p.V364I|NADK_uc001aid.3_Missense_Mutation_p.V364I|NADK_uc001aie.2_Missense_Mutation_p.V509I|NADK_uc010nyv.1_Missense_Mutation_p.V332I	NM_023018	NP_075394	O95544	NADK_HUMAN	NAD kinase	364					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TTCAGCTCGACCCCTGCGGGG	0.637													T	1685501	C	T	1685501	3	4	131	1	0	0	0	0	1	0	0	0	10137	507	18	4	262	4	NADK	1	1685501	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	362807	1685501	247565120	4	76179											
MMEL1	79258	broad.mit.edu	37	chr1	2526797	2526797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctcccggatgctcatgGcctgagtggggaggagggac	17	10	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:2526797G>A	uc001ajy.2	-	16	1716	c.1502C>T	c.(1501-1503)GCC>GTC	p.A501V	MMEL1_uc009vlg.1_RNA	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	501	Lumenal (Potential).				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GATGCTCATGGCCTGAGTGGG	0.662													A	2526797	G	A	2526797	3	1	131	1	0	0	0	0	1	0	0	0	9646	1217	42	2	873	2	MMEL1	1	2526797	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	841296	2526797	246723824	5	76180											
MEGF6	1953	broad.mit.edu	37	chr1	3410411	3410411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcacagggtgcccccccGtcacagtcacagcgctggtg	14	15	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:3410411G>A	uc001akl.2	-	34	4538	c.4311C>T	c.(4309-4311)GAC>GAT	p.D1437D	MEGF6_uc001akk.2_Intron	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	1437						extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GTGCCCCCCCGTCACAGTCAC	0.662													A	3410411	G	A	3410411	2	1	131	1	0	0	0	0	0	0	0	1	9462	1136	40	1		1	MEGF6	1	3410411	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	883614	3410411	245840210	6	76181											
AJAP1	55966	broad.mit.edu	37	chr1	4829964	4829964	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtctccctcatcatggtcaTagctgctctcatcacaactc	5	16	6	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:4829964T>C	uc001alm.1	+	3	1262	c.881T>C	c.(880-882)ATA>ACA	p.I294T	AJAP1_uc001aln.2_Missense_Mutation_p.I294T	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	294	Helical; Signal-anchor for type III membrane protein; (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ATCATGGTCATAGCTGCTCTC	0.532													C	4829964	T	C	4829964	3	2	131	1	0	0	0	0	1	0	0	0	438	1406	49	3	891	3	AJAP1	1	4829964	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1419553	4829964	244420657	7	76182											
CHD5	26038	broad.mit.edu	37	chr1	6209392	6209392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaggccctcgggcaggtgtCgcacaggatgatctccccac	13	14	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:6209392C>T	uc001amb.1	-	8	1175	c.1075G>A	c.(1075-1077)GAC>AAC	p.D359N	CHD5_uc001amc.1_5'Flank	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	359	PHD-type 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGGCAGGTGTCGCACAGGATG	0.607													T	6209392	C	T	6209392	3	4	131	1	0	0	0	0	1	0	0	0	3328	884	31	1	4925	1	CHD5	1	6209392	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1379428	6209392	243041229	8	76183											
TNFRSF25	8718	broad.mit.edu	37	chr1	6521693	6521693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgcgcagccccagcgtgCgcacgaactccttccagcgc	10	20	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:6521693C>T	uc001ane.2	-	10	1143	c.1055G>A	c.(1054-1056)CGC>CAC	p.R352H	TNFRSF25_uc001ana.2_Missense_Mutation_p.R169H|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_Missense_Mutation_p.R125H|TNFRSF25_uc009vlz.2_RNA|TNFRSF25_uc001anf.2_Missense_Mutation_p.R315H|TNFRSF25_uc001ang.2_Missense_Mutation_p.R307H|TNFRSF25_uc001anh.2_Missense_Mutation_p.R361H	NM_003790	NP_003781	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily,	352	Death.|Cytoplasmic (Potential).				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(2)|breast(1)	3	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCAGCGTGCGCACGAACTC	0.692													T	6521693	C	T	6521693	3	4	131	1	0	0	0	0	1	0	0	0	16293	768	27	1	202	1	TNFRSF25	1	6521693	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	312301	6521693	242728928	9	76184											
TNFRSF25	8718	broad.mit.edu	37	chr1	6525249	6525249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggcaggtggagttgccgCagggctccgtgcaaggggcc	18	11	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:6525249C>T	uc001ane.2	-	3	282	c.194G>A	c.(193-195)TGC>TAC	p.C65Y	TNFRSF25_uc001ana.2_Intron|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_Intron|TNFRSF25_uc009vlz.2_Intron|TNFRSF25_uc001anf.2_Missense_Mutation_p.C65Y|TNFRSF25_uc001ang.2_Intron|TNFRSF25_uc001anh.2_Missense_Mutation_p.C65Y|TNFRSF25_uc001ani.1_Missense_Mutation_p.C65Y	NM_003790	NP_003781	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily,	65	TNFR-Cys 1.|Extracellular (Potential).				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(2)|breast(1)	3	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		GGAGTTGCCGCAGGGCTCCGT	0.592													T	6525249	C	T	6525249	3	4	131	1	0	0	0	0	1	0	0	0	16293	710	25	2	1122	2	TNFRSF25	1	6525249	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3556	6525249	242725372	10	76185											
NOL9	79707	broad.mit.edu	37	chr1	6605171	6605171	+	Frame_Shift_Del	DEL	T	T	-													agttaactgaaggcctttccTttttttctctcttctgatgc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:6605171delT	uc001ans.2	-	4	833	c.814delA	c.(814-816)AGGfs	p.R272fs	NOL9_uc010nzs.1_RNA	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	272					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			skin(1)	1	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCCTTTCCTTTTTTTCTCT	0.403													-	6605171	T	-	6605171	7	5	131	1	0	1	0	1	0	0	0	0	10528	1608	56	0	1330	0	NOL9	1	6605171	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	79922	6605171	242645450	11	76186											
KLHL21	9903	broad.mit.edu	37	chr1	6659214	6659214	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcggtgtccgggtcgtaGcactgcatcaccatggtctc	13	12	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:6659214G>A	uc001aoa.2	-	2	1372	c.1320C>T	c.(1318-1320)TGC>TGT	p.C440C	KLHL21_uc001anz.1_Silent_p.C440C|KLHL21_uc009vme.2_Silent_p.C73C	NM_014851	NP_055666	Q9UJP4	KLH21_HUMAN	kelch-like 21	440	Kelch 4.				anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)	1	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		CCGGGTCGTAGCACTGCATCA	0.637													A	6659214	G	A	6659214	2	1	131	1	0	0	0	0	0	0	0	1	8376	963	34	2		2	KLHL21	1	6659214	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	54043	6659214	242591407	12	76187											
PER3	8863	broad.mit.edu	37	chr1	7887206	7887206	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttccaagcagacgcggtcGgccggctgcaggaaagggaa	15	11	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:7887206G>A	uc001aoo.2	+	17	2368	c.2193G>A	c.(2191-2193)TCG>TCA	p.S731S	PER3_uc009vmg.1_Silent_p.S739S|PER3_uc009vmh.1_Silent_p.S732S|PER3_uc001aop.2_Silent_p.S739S|PER3_uc010nzw.1_Silent_p.S420S	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	731	CSNK1E binding domain (By similarity).|Nuclear localization signal (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	p.G733fs*115(1)		ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		AGACGCGGTCGGCCGGCTGCA	0.557													A	7887206	G	A	7887206	2	1	131	1	0	0	0	0	0	0	0	1	11731	1103	39	1		1	PER3	1	7887206	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1227992	7887206	241363415	13	76188											
SLC45A1	50651	broad.mit.edu	37	chr1	8390709	8390709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgcttcacgggcggccacGacagctacctggccatccct	10	17	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:8390709G>A	uc001apb.2	+	4	1156	c.1156G>A	c.(1156-1158)GAC>AAC	p.D386N	SLC45A1_uc001apc.2_Missense_Mutation_p.D84N	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	386					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCGGCCACGACAGCTACCT	0.662													A	8390709	G	A	8390709	3	1	131	1	0	0	0	0	1	0	0	0	14640	1058	37	1	1170	1	SLC45A1	1	8390709	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	503503	8390709	240859912	14	76189											
SLC2A7	155184	broad.mit.edu	37	chr1	9075181	9075181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccggcgacttcataccttgtCgcgctgtggcttcatctcct	9	15	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:9075181C>T	uc009vmo.1	-	6	710	c.710G>A	c.(709-711)CGA>CAA	p.R237Q		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	intestinal facilitative glucose transporter 7	237	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity				0	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CATACCTTGTCGCGCTGTGGC	0.662													T	9075181	C	T	9075181	3	4	131	1	0	0	0	0	1	0	0	0	14550	884	31	1	856	1	SLC2A7	1	9075181	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	684472	9075181	240175440	15	76190											
H6PD	9563	broad.mit.edu	37	chr1	9323865	9323865	+	Frame_Shift_Del	DEL	T	T	-													gggaccacctgggctccgccTtttcggcagccctctgtccg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:9323864_9323864CT>C	uc001apt.3	+	4	1585	c.1312_1312CT>C	c.(1312-1314)cttfs	p.L438fs		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	438	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	TGGGCTCCGCCTTTTCGGCAG	0.637													-	9323865	T	-	9323865	7	5	131	1	0	1	0	1	0	0	0	0	6936	1609	56	0	1327	0	H6PD	1	9323865	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	248684	9323865	239926756	16	76191											
CASZ1	54897	broad.mit.edu	37	chr1	10700033	10700033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggaggacgccgtcttccGccgcttgccgaagggcgaca	15	15	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:10700033G>A	uc001aro.2	-	21	4566	c.4246C>T	c.(4246-4248)CGG>TGG	p.R1416W		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GCCGTCTTCCGCCGCTTGCCG	0.627													A	10700033	G	A	10700033	3	1	131	1	0	0	0	0	1	0	0	0	2685	1086	38	1	1037	1	CASZ1	1	10700033	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1376168	10700033	238550588	17	76192											
MASP2	10747	broad.mit.edu	37	chr1	11097818	11097818	+	Frame_Shift_Del	DEL	C	C	-													caggatgtatttggcttgcaCaggtgaaacgtggccattag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:11097818delC	uc001aru.2	-	7	961	c.940delG	c.(940-942)GTGfs	p.V314fs		NM_006610	NP_006601	O00187	MASP2_HUMAN	mannan-binding lectin serine protease 2 isoform	314	Sushi 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TTGGCTTGCACAGGTGAAACG	0.502											OREG0013096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	11097818	C	-	11097818	7	5	131	1	0	1	0	1	0	0	0	0	9323	478	17	0	1140	0	MASP2	1	11097818	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	397785	11097818	238152803	18	76193											
EXOSC10	5394	broad.mit.edu	37	chr1	11129665	11129666	+	Frame_Shift_Del	DEL	TT	TT	-													tagtcgtaaggcgtaaactcTttttctggtggctctgggtc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:11129664_11129665CTT>C	uc001asa.3	-	21	2489_2490	c.2439_2440AAG>G	c.(2437-2442)aaagagfs	p.K813fs	EXOSC10_uc001asb.3_Frame_Shift_Del_p.K788fs	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA.	813					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GGCGTAAACTCTTTTTCTGGTG	0.51													-	11129666	TT	-	11129665	7	5	131	1	0	1	0	1	0	0	0	0	5314	1606	56	0	234	0	EXOSC10	1	11129665	Frame_Shift_Del	DEL	TT	TCGA-BR-A4QL-01A-31D-A25D-08	31847	11129665	238120956	19	76194											
MTOR	2475	broad.mit.edu	37	chr1	11303337	11303337	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttaggacatggttcatggTatcttggagatactgggtat	13	5	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:11303337T>C	uc001asd.2	-	9	1367	c.1246A>G	c.(1246-1248)ACC>GCC	p.T416A		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	416					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						TGGTTCATGGTATCTTGGAGA	0.473													C	11303337	T	C	11303337	3	2	131	1	0	0	0	0	1	0	0	0	9954	1638	57	3	6603	3	MTOR	1	11303337	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	173672	11303337	237947284	20	76195											
C1orf187	374946	broad.mit.edu	37	chr1	11766419	11766419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacctgggacccctgcccGgaacctccctgagaatcaca	9	17	1	1	rs149999195		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:11766419G>A	uc001asr.1	+	2	244	c.104G>A	c.(103-105)CGG>CAG	p.R35Q		NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	chromosome 1 open reading frame 187 precursor	35					axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region					0	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)		ACCCCTGCCCGGAACCTCCCT	0.706													A	11766419	G	A	11766419	3	1	131	1	0	0	0	0	1	0	0	0	2021	1116	39	1	106	1	C1orf187	1	11766419	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	463082	11766419	237484202	21	76196											
CLCN6	1185	broad.mit.edu	37	chr1	11900199	11900199	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caggccttctctttgccctaGatcgtggggatcatcacacg	10	13	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:11900199G>C	uc001ate.3	+	23	2643	c.2530_splice	c.e23-1	p.I844_splice	CLCN6_uc010oat.1_Splice_Site_p.I560_splice|CLCN6_uc010oau.1_Splice_Site_p.I822_splice|CLCN6_uc010oav.1_5'Flank|CLCN6_uc010oaw.1_5'Flank|CLCN6_uc010oax.1_5'Flank|CLCN6_uc010oay.1_5'Flank|CLCN6_uc010oaz.1_5'Flank|CLCN6_uc010oba.1_5'Flank	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a						cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTTTGCCCTAGATCGTGGGGA	0.572													C	11900199	G	C	11900199	5	2	131	1	0	0	0	0	0	0	1	0	3467	956	33	5	2629	5	CLCN6	1	11900199	Splice_Site	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	133780	11900199	237350422	22	76197											
VPS13D	55187	broad.mit.edu	37	chr1	12359286	12359286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaagcccagcgctgttcaCgggttctcctggatattgag	11	11	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:12359286C>T	uc001atv.2	+	25	6202	c.6061C>T	c.(6061-6063)CGG>TGG	p.R2021W	VPS13D_uc001atw.2_Missense_Mutation_p.R2021W|VPS13D_uc001atx.2_Missense_Mutation_p.R1209W	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2021					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCGCTGTTCACGGGTTCTCCT	0.438													T	12359286	C	T	12359286	3	4	131	1	0	0	0	0	1	0	0	0	17189	527	19	1	6155	1	VPS13D	1	12359286	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	459087	12359286	236891335	23	76198											
VPS13D	55187	broad.mit.edu	37	chr1	12401935	12401935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccaccctgaccaccacaCccaccaggtaagcagtcagt	7	17	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:12401935C>T	uc001atv.2	+	41	8866	c.8725C>T	c.(8725-8727)CCC>TCC	p.P2909S	VPS13D_uc001atw.2_Missense_Mutation_p.P2884S|VPS13D_uc001atx.2_Missense_Mutation_p.P2096S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2908					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GACCACCACACCCACCAGGTA	0.577													T	12401935	C	T	12401935	3	4	131	1	0	0	0	0	1	0	0	0	17189	507	18	4	8883	4	VPS13D	1	12401935	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	42649	12401935	236848686	24	76199											
PRDM2	7799	broad.mit.edu	37	chr1	14075941	14075941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgattgaggaagagcgagCcagcgcccggagcaagcgga	17	10	0	2	rs144833671	by1000genomes	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:14075941C>T	uc001avi.2	+	6	1326	c.470C>T	c.(469-471)GCC>GTC	p.A157V	PRDM2_uc001avg.2_Missense_Mutation_p.A157V|PRDM2_uc001avh.2_Missense_Mutation_p.A157V|PRDM2_uc001avj.2_RNA|PRDM2_uc009vod.1_5'UTR|PRDM2_uc001avk.2_5'UTR|PRDM2_uc009voe.2_RNA|PRDM2_uc009vof.2_RNA	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	157						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAAGAGCGAGCCAGCGCCCGG	0.468													T	14075941	C	T	14075941	3	4	131	1	0	0	0	0	1	0	0	0	12458	739	26	2	488	2	PRDM2	1	14075941	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1674006	14075941	235174680	25	76200											
EFHD2	79180	broad.mit.edu	37	chr1	15755104	15755104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggtccaggccatcaacGtgtccagccgcttcgaggag	13	14	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:15755104G>A	uc001awh.2	+	4	684	c.607G>A	c.(607-609)GTG>ATG	p.V203M		NM_024329	NP_077305	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	203						membrane raft					0		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCATCAACGTGTCCAGCCG	0.572													A	15755104	G	A	15755104	3	1	131	1	0	0	0	0	1	0	0	0	4949	1145	40	1	621	1	EFHD2	1	15755104	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1679163	15755104	233495517	26	76201											
PLEKHM2	23207	broad.mit.edu	37	chr1	16011067	16011067	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcgccatggagccgggggAggtgaaggaccggatcctgg	19	10	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:16011067A>G	uc010obo.1	+	1	241	c.14A>G	c.(13-15)GAG>GGG	p.E5G		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	5	Interaction with KIF5B.				Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GAGCCGGGGGAGGTGAAGGAC	0.338													G	16011067	A	G	16011067	3	3	131	1	0	0	0	0	1	0	0	0	12081	304	11	3	16	3	PLEKHM2	1	16011067	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	255963	16011067	233239554	27	76202											
PLEKHM2	23207	broad.mit.edu	37	chr1	16052022	16052022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacccgccggatgcctgcaCggagctcgaggtcatcaggt	15	13	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:16052022C>T	uc010obo.1	+	8	1150	c.923C>T	c.(922-924)ACG>ATG	p.T308M		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	308	Interaction with KIF5B.				Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GATGCCTGCACGGAGCTCGAG	0.657													T	16052022	C	T	16052022	3	4	131	1	0	0	0	0	1	0	0	0	12081	536	19	1	953	1	PLEKHM2	1	16052022	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	40955	16052022	233198599	28	76203											
PLEKHM2	23207	broad.mit.edu	37	chr1	16053733	16053733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacggagagcagcgagcgctCcgagccgggcctgctgatcc	15	15	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:16053733C>T	uc010obo.1	+	9	1393	c.1166C>T	c.(1165-1167)TCC>TTC	p.S389F		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	389					Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGCGAGCGCTCCGAGCCGGGC	0.672													T	16053733	C	T	16053733	3	4	131	1	0	0	0	0	1	0	0	0	12081	855	30	4	1200	4	PLEKHM2	1	16053733	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1711	16053733	233196888	29	76204											
FBXO42	54455	broad.mit.edu	37	chr1	16583174	16583174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtaggggataagggcttgGccgcgtccagccaccaaaca	14	11	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:16583174G>A	uc001ayg.2	-	5	799	c.583C>T	c.(583-585)CCA>TCA	p.P195S	FBXO42_uc001aye.3_5'Flank|FBXO42_uc001ayf.2_Missense_Mutation_p.P102S	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	F-box protein 42	195	Kelch 2.									upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TAAGGGCTTGGCCGCGTCCAG	0.468													A	16583174	G	A	16583174	3	1	131	1	0	0	0	0	1	0	0	0	5751	1203	42	2	1594	2	FBXO42	1	16583174	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	529441	16583174	232667447	30	76205											
NBPF1	55672	broad.mit.edu	37	chr1	16914226	16914226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtattcagtgttacctggggGcagatgattccagtactttc	11	8	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:16914226G>A	uc009vos.1	-	10	1448	c.560C>T	c.(559-561)GCC>GTC	p.A187V	NBPF1_uc009vot.1_5'Flank|NBPF1_uc001ayz.1_5'Flank|NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	187	NBPF 1.					cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTACCTGGGGGCAGATGATTC	0.438													A	16914226	G	A	16914226	3	1	131	1	0	0	0	0	1	0	0	0	10192	1203	42	2	2944	2	NBPF1	1	16914226	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	331052	16914226	232336395	31	76206											
CROCC	9696	broad.mit.edu	37	chr1	17256811	17256811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagccaagacctggaaagcGccctcatccggctggaggag	13	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:17256811G>A	uc001azt.2	+	6	721	c.652G>A	c.(652-654)GCC>ACC	p.A218T	CROCC_uc009voy.1_5'UTR|CROCC_uc009voz.1_5'UTR	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	218	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CCTGGAAAGCGCCCTCATCCG	0.677													A	17256811	G	A	17256811	3	1	131	1	0	0	0	0	1	0	0	0	3893	1087	38	1	674	1	CROCC	1	17256811	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	342585	17256811	231993810	32	76207											
PAX7	5081	broad.mit.edu	37	chr1	19062247	19062247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagccagctgcagccagcGggccgactccatcaagccag	11	17	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:19062247G>A	uc001bay.2	+	8	1875	c.1277G>A	c.(1276-1278)CGG>CAG	p.R426Q	PAX7_uc001baz.2_Missense_Mutation_p.R424Q|PAX7_uc010oct.1_Missense_Mutation_p.R426Q	NM_002584	NP_002575	P23759	PAX7_HUMAN	paired box 7 isoform 1	426					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TGCAGCCAGCGGGCCGACTCC	0.701			T	FOXO1A	alveolar rhabdomyosarcoma								A	19062247	G	A	19062247	3	1	131	1	0	0	0	0	1	0	0	0	11484	1116	39	1	1307	1	PAX7	1	19062247	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1805436	19062247	230188374	33	76208											
HP1BP3	50809	broad.mit.edu	37	chr1	21076290	21076290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtagagcaggtcttcGgctcattcatggcagcaatg	13	9	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:21076290G>A	uc001bdw.1	-	10	1207	c.1067C>T	c.(1066-1068)CCG>CTG	p.P356L	HP1BP3_uc001bdv.1_Missense_Mutation_p.P318L|HP1BP3_uc010odh.1_Missense_Mutation_p.P318L|HP1BP3_uc001bdy.1_Missense_Mutation_p.P356L|HP1BP3_uc010odf.1_Missense_Mutation_p.P15L|HP1BP3_uc010odg.1_Missense_Mutation_p.P204L	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	HP1-BP74	356	H15 3.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|skin(1)	2		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GCAGGTCTTCGGCTCATTCAT	0.453													A	21076290	G	A	21076290	3	1	131	1	0	0	0	0	1	0	0	0	7328	1116	39	1	610	1	HP1BP3	1	21076290	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2014043	21076290	228174331	34	76209											
EIF4G3	8672	broad.mit.edu	37	chr1	21191619	21191619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatacttacagcactggcaGcctcaagttctttctgcttc	6	12	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:21191619G>A	uc001bec.2	-	16	2847	c.2591C>T	c.(2590-2592)GCT>GTT	p.A864V	EIF4G3_uc010odi.1_Missense_Mutation_p.A468V|EIF4G3_uc010odj.1_Missense_Mutation_p.A863V|EIF4G3_uc009vpz.2_Missense_Mutation_p.A584V|EIF4G3_uc001bed.2_Missense_Mutation_p.A864V|EIF4G3_uc001bef.2_Missense_Mutation_p.A900V|EIF4G3_uc001bee.2_Missense_Mutation_p.A870V	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	864	eIF3/EIF4A-binding (By similarity).|MIF4G.|HEAT 3.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGCACTGGCAGCCTCAAGTTC	0.413													A	21191619	G	A	21191619	3	1	131	1	0	0	0	0	1	0	0	0	5038	971	34	2	2234	2	EIF4G3	1	21191619	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	115329	21191619	228059002	35	76210											
ALPL	249	broad.mit.edu	37	chr1	21902394	21902394	+	Frame_Shift_Del	DEL	C	C	-													cttcacatttggtggatacaCcccccgtggcaactctatct							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:21902394delC	uc001bet.2	+	10	1423	c.1166delC	c.(1165-1167)ACCfs	p.T389fs	ALPL_uc010odn.1_Frame_Shift_Del_p.T337fs|ALPL_uc010odo.1_Frame_Shift_Del_p.T334fs|ALPL_uc010odp.1_Frame_Shift_Del_p.T312fs|ALPL_uc001beu.3_Frame_Shift_Del_p.T389fs	NM_000478	NP_000469	P05186	PPBT_HUMAN	tissue-nonspecific alkaline phosphatase	389					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GGTGGATACACCCCCCGTGGC	0.612													-	21902394	C	-	21902394	7	5	131	1	0	1	0	1	0	0	0	0	547	507	18	0	1200	0	ALPL	1	21902394	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	710775	21902394	227348227	36	76211											
RAP1GAP	5909	broad.mit.edu	37	chr1	21929366	21929366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcgggagccgaacgggcccGacttcttcctcgtggggctc	16	14	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:21929366G>A	uc001bex.2	-	19	1727	c.1469C>T	c.(1468-1470)TCG>TTG	p.S490L	RAP1GAP_uc001bev.2_Missense_Mutation_p.S575L|RAP1GAP_uc001bew.2_Missense_Mutation_p.S554L|RAP1GAP_uc001bey.2_Missense_Mutation_p.S516L	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform c	490					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GAACGGGCCCGACTTCTTCCT	0.652													A	21929366	G	A	21929366	3	1	131	1	0	0	0	0	1	0	0	0	13037	1059	37	1	546	1	RAP1GAP	1	21929366	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	26972	21929366	227321255	37	76212											
EPHA8	2046	broad.mit.edu	37	chr1	22925427	22925427	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacctgggctatgtccacCgagacctggccgcccgcaac	11	17	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:22925427C>T	uc001bfx.1	+	13	2400	c.2275C>T	c.(2275-2277)CGA>TGA	p.R759*		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	759	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTATGTCCACCGAGACCTGGC	0.642													T	22925427	C	T	22925427	4	4	131	1	0	0	0	0	0	1	0	0	5173	644	23	1	2498	1	EPHA8	1	22925427	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	996061	22925427	226325194	38	76213											
ASAP3	55616	broad.mit.edu	37	chr1	23782638	23782638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccggagctatggattgccCgcacagccttctttattctc	10	13	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:23782638C>T	uc001bha.2	-	2	303	c.179G>A	c.(178-180)CGG>CAG	p.R60Q	ASAP3_uc010odz.1_5'UTR|ASAP3_uc010oea.1_Missense_Mutation_p.R60Q|ASAP3_uc001bhc.1_Missense_Mutation_p.R60Q	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	60					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						ATGGATTGCCCGCACAGCCTT	0.582													T	23782638	C	T	23782638	3	4	131	1	0	0	0	0	1	0	0	0	1012	652	23	1	2651	1	ASAP3	1	23782638	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	857211	23782638	225467983	39	76214											
IL28RA	163702	broad.mit.edu	37	chr1	24485550	24485550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatttgctataccagggcccGtggcatctttgcccgctgaa	11	12	1	1	rs146955345		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:24485550G>A	uc001bis.2	-	6	806	c.793C>T	c.(793-795)CGG>TGG	p.R265W	IL28RA_uc001bir.2_Missense_Mutation_p.R265W|IL28RA_uc001bit.2_Intron|IL28RA_uc001biu.2_Missense_Mutation_p.R181W	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	interleukin 28 receptor, alpha isoform 1	265	Cytoplasmic (Potential).				cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		ACCAGGGCCCGTGGCATCTTT	0.552													A	24485550	G	A	24485550	3	1	131	1	0	0	0	0	1	0	0	0	7684	1144	40	1	777	1	IL28RA	1	24485550	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	702912	24485550	224765071	40	76215											
AIM1L	55057	broad.mit.edu	37	chr1	26648679	26648679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacgtccaggatctggccttCgaacatctggctgcagatgt	11	12	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:26648679C>T	uc001bmd.3	-	18	2168	c.1738G>A	c.(1738-1740)GAA>AAA	p.E580K		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	580	Ricin B-type lectin.						sugar binding			pancreas(1)	1		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		ATCTGGCCTTCGAACATCTGG	0.622													T	26648679	C	T	26648679	3	4	131	1	0	0	0	0	1	0	0	0	431	893	31	1	120	1	AIM1L	1	26648679	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2163129	26648679	222601942	41	76216											
ZNF683	257101	broad.mit.edu	37	chr1	26691260	26691260	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttggccagaggcttggaaGgcccctgggtagggaagcag	18	9	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:26691260G>A	uc001bmg.1	-	4	895	c.777C>T	c.(775-777)GCC>GCT	p.A259A	ZNF683_uc001bmh.1_Silent_p.A259A|ZNF683_uc009vsj.1_Silent_p.A259A	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	zinc finger protein 683	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGGCTTGGAAGGCCCCTGGGT	0.652													A	26691260	G	A	26691260	2	1	131	1	0	0	0	0	0	0	0	1	18087	987	35	4		4	ZNF683	1	26691260	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	42581	26691260	222559361	42	76217											
ARID1A	8289	broad.mit.edu	37	chr1	27058097	27058097	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttccctccaccgcaggTaagatatccctgcctcctgc	8	18	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:27058097T>C	uc001bmv.1	+	3	2176	c.1803_splice	c.e3+2	p.Q601_splice	ARID1A_uc001bmt.1_Splice_Site_p.Q601_splice|ARID1A_uc001bmu.1_Splice_Site_p.Q601_splice|ARID1A_uc001bmw.1_Splice_Site_p.Q218_splice	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a						androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCACCGCAGGTAAGATATCCC	0.577			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								C	27058097	T	C	27058097	5	2	131	1	0	0	0	0	0	0	1	0	913	1652	57	3	1815	3	ARID1A	1	27058097	Splice_Site	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	366837	27058097	222192524	43	76218											
SLC9A1	6548	broad.mit.edu	37	chr1	27428997	27428997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctggggctccttggagcGctcgccagctatcagacact	13	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:27428997G>A	uc001bnm.2	-	8	2325	c.1699C>T	c.(1699-1701)CGC>TGC	p.R567C	SLC9A1_uc001bnl.2_Missense_Mutation_p.R71C|SLC9A1_uc010ofk.1_Missense_Mutation_p.R228C	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	567	Cytoplasmic (Potential).				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TCCTTGGAGCGCTCGCCAGCT	0.582											OREG0013277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	27428997	G	A	27428997	3	1	131	1	0	0	0	0	1	0	0	0	14709	1087	38	1	768	1	SLC9A1	1	27428997	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	370900	27428997	221821624	44	76219											
RCC1	1104	broad.mit.edu	37	chr1	28864477	28864477	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatctgtgtccagcgggggCcagcatacagtcttattagt	11	9	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:28864477C>T	uc001bqg.1	+	10	1309	c.1224C>T	c.(1222-1224)GGC>GGT	p.G408G	SNHG3-RCC1_uc001bqa.1_Silent_p.G408G|SNHG3-RCC1_uc001bqb.1_Silent_p.G408G|SNHG3-RCC1_uc001bqc.1_Silent_p.G408G|RCC1_uc001bqe.1_Silent_p.G425G|RCC1_uc001bqf.1_Silent_p.G439G	NM_001269	NP_001260	P18754	RCC1_HUMAN	regulator of chromosome condensation 1 isoform	408	RCC1 7.				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCGGGGGCCAGCATACAG	0.567													T	28864477	C	T	28864477	2	4	131	1	0	0	0	0	0	0	0	1	13173	726	26	2		2	RCC1	1	28864477	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1435480	28864477	220386144	45	76220											
PTPRU	10076	broad.mit.edu	37	chr1	29586063	29586063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcggccgaggccgaacGcttcctcttgcaagtgagcg	14	13	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:29586063G>A	uc001bru.2	+	5	772	c.662G>A	c.(661-663)CGC>CAC	p.R221H	PTPRU_uc001brv.2_Missense_Mutation_p.R221H|PTPRU_uc001brw.2_Missense_Mutation_p.R221H|PTPRU_uc009vtq.2_Missense_Mutation_p.R221H|PTPRU_uc009vtr.2_Missense_Mutation_p.R221H	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	221	Extracellular (Potential).|Ig-like C2-type.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GAGGCCGAACGCTTCCTCTTG	0.687													A	29586063	G	A	29586063	3	1	131	1	0	0	0	0	1	0	0	0	12813	1087	38	1	680	1	PTPRU	1	29586063	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	721586	29586063	219664558	46	76221											
PTPRU	10076	broad.mit.edu	37	chr1	29644433	29644433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaatgcagccctgactgaCgtgagagcttggggtggagt	15	7	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:29644433C>T	uc001bru.2	+	26	3827	c.3717C>T	c.(3715-3717)GAC>GAT	p.D1239D	PTPRU_uc001brv.2_Silent_p.D1235D|PTPRU_uc001brw.2_Silent_p.D1229D|PTPRU_uc009vtq.2_Silent_p.D1235D|PTPRU_uc009vtr.2_Silent_p.D1226D|PTPRU_uc001brx.2_5'Flank	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1239	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCCTGACTGACGTGAGAGCTT	0.622													T	29644433	C	T	29644433	2	4	131	1	0	0	0	0	0	0	0	1	12813	550	19	1		1	PTPRU	1	29644433	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	58370	29644433	219606188	47	76222											
KPNA6	23633	broad.mit.edu	37	chr1	32628102	32628102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatagactccggagtctgCcggagattggtagagctgct	14	9	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:32628102C>T	uc001bug.2	+	9	976	c.888C>T	c.(886-888)TGC>TGT	p.C296C	KPNA6_uc001buh.2_Silent_p.C71C|KPNA6_uc010ogx.1_Silent_p.C293C|KPNA6_uc010ogy.1_Silent_p.C301C|KPNA6_uc009vtz.2_Silent_p.C191C	NM_012316	NP_036448	O60684	IMA7_HUMAN	karyopherin alpha 6	296	ARM 6.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCGGAGTCTGCCGGAGATTGG	0.418													T	32628102	C	T	32628102	2	4	131	1	0	0	0	0	0	0	0	1	8434	747	26	2		2	KPNA6	1	32628102	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2983669	32628102	216622519	48	76223											
TXLNA	200081	broad.mit.edu	37	chr1	32655736	32655736	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaggtgacactgaatgaCattcagctgcagatggaaca	10	9	1	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:32655736C>T	uc001bui.2	+	6	914	c.849C>T	c.(847-849)GAC>GAT	p.D283D	TXLNA_uc001buj.2_Silent_p.D283D	NM_175852	NP_787048	P40222	TXLNA_HUMAN	taxilin	283	Potential.				cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CACTGAATGACATTCAGCTGC	0.567													T	32655736	C	T	32655736	2	4	131	1	0	0	0	0	0	0	0	1	16784	477	17	4		4	TXLNA	1	32655736	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	27634	32655736	216594885	49	76224											
TXLNA	200081	broad.mit.edu	37	chr1	32658000	32658000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggagatgctaaaggaggCagaagagcggcaccagcggg	17	9	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:32658000C>T	uc001bui.2	+	7	1117	c.1052C>T	c.(1051-1053)GCA>GTA	p.A351V	TXLNA_uc001buj.2_Missense_Mutation_p.A351V	NM_175852	NP_787048	P40222	TXLNA_HUMAN	taxilin	351	Potential.				cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTAAAGGAGGCAGAAGAGCGG	0.577													T	32658000	C	T	32658000	3	4	131	1	0	0	0	0	1	0	0	0	16784	710	25	2	1074	2	TXLNA	1	32658000	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2264	32658000	216592621	50	76225											
TSSK3	81629	broad.mit.edu	37	chr1	32829406	32829406	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccctcttccgtcagatggTtgaggccatccgctactgcc	11	15	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:32829406T>C	uc001bvf.2	+	2	797	c.356T>C	c.(355-357)GTT>GCT	p.V119A	uc001bve.1_5'Flank	NM_052841	NP_443073	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	119	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				CGTCAGATGGTTGAGGCCATC	0.597													C	32829406	T	C	32829406	3	2	131	1	0	0	0	0	1	0	0	0	16667	1725	60	3	362	3	TSSK3	1	32829406	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	171406	32829406	216421215	51	76226											
KIAA1522	57648	broad.mit.edu	37	chr1	33236614	33236614	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggcaaggcccagccccctAaaccagagcgtgtcacgtct	10	16	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:33236614A>T	uc001bvv.2	+	6	1793	c.1657A>T	c.(1657-1659)AAA>TAA	p.K553*	KIAA1522_uc001bvu.1_Nonsense_Mutation_p.K612*|KIAA1522_uc010ohm.1_Nonsense_Mutation_p.K564*|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	553	Pro-rich.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGCCCCCTAAACCAGAGCG	0.642													T	33236614	A	T	33236614	4	4	131	1	0	0	0	0	0	1	0	0	8238	363	13	5	1856	5	KIAA1522	1	33236614	Nonsense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	407208	33236614	216014007	52	76227											
KIAA1522	57648	broad.mit.edu	37	chr1	33236735	33236735	+	Frame_Shift_Del	DEL	C	C	-													ctctgggccacagatattgaCccccctgggtgacaggtttg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:33236735delC	uc001bvv.2	+	6	1914	c.1778delC	c.(1777-1779)ACCfs	p.T593fs	KIAA1522_uc001bvu.1_Frame_Shift_Del_p.T652fs|KIAA1522_uc010ohm.1_Frame_Shift_Del_p.T604fs|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	593	Pro-rich.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGATATTGACCCCCCTGGGT	0.637													-	33236735	C	-	33236735	7	5	131	1	0	1	0	1	0	0	0	0	8238	507	18	0	1977	0	KIAA1522	1	33236735	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	121	33236735	216013886	53	76228											
TFAP2E	339488	broad.mit.edu	37	chr1	36053953	36053953	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatcccctccaaagccagCagcctctcagccctctcctt	4	22	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:36053953C>T	uc010ohy.1	+	4	793	c.585C>T	c.(583-585)AGC>AGT	p.S195S	PSMB2_uc001bzd.1_Intron	NM_178548	NP_848643	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating	195						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCAAAGCCAGCAGCCTCTCAG	0.488													T	36053953	C	T	36053953	2	4	131	1	0	0	0	0	0	0	0	1	15788	709	25	2		2	TFAP2E	1	36053953	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2817218	36053953	213196668	54	76229											
EIF2C1	26523	broad.mit.edu	37	chr1	36384666	36384666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcttcccagggcaccagccGaccatcccattactatgttc	6	16	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:36384666G>A	uc001bzl.2	+	18	2489	c.2276G>A	c.(2275-2277)CGA>CAA	p.R759Q	EIF2C1_uc001bzk.2_Missense_Mutation_p.R684Q|EIF2C1_uc009vuy.2_RNA	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	759	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGCACCAGCCGACCATCCCAT	0.522													A	36384666	G	A	36384666	3	1	131	1	0	0	0	0	1	0	0	0	5005	1058	37	1	2346	1	EIF2C1	1	36384666	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	330713	36384666	212865955	55	76230											
MAP7D1	55700	broad.mit.edu	37	chr1	36636750	36636750	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagagcccctcagggcaggtCgggcctaggccagccccccc	14	18	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:36636750C>T	uc001bzz.2	+	2	441	c.225C>T	c.(223-225)GTC>GTT	p.V75V	MAP7D1_uc001caa.2_Silent_p.V75V|MAP7D1_uc001cab.2_Silent_p.V75V|MAP7D1_uc001cac.2_5'Flank	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	75	Pro-rich.					cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)				CAGGGCAGGTCGGGCCTAGGC	0.662													T	36636750	C	T	36636750	2	4	131	1	0	0	0	0	0	0	0	1	9267	871	31	1		1	MAP7D1	1	36636750	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	252084	36636750	212613871	56	76231											
C1orf113	79729	broad.mit.edu	37	chr1	36785787	36785787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaattccatcacttctcttCggaggaagccctgcagaagg	9	12	3	1	rs150094016	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:36785787C>T	uc010oia.1	+	14	1551	c.1523C>T	c.(1522-1524)TCG>TTG	p.S508L	C1orf113_uc010oib.1_Missense_Mutation_p.S397L|C1orf113_uc010oic.1_RNA|C1orf113_uc009vuz.1_Missense_Mutation_p.S154L	NM_001162530	NP_001156002	A4FU49	SH321_HUMAN	SH3 domain-containing protein C1orf113 isoform	392											0		Myeloproliferative disorder(586;0.0393)				CACTTCTCTTCGGAGGAAGCC	0.557													T	36785787	C	T	36785787	3	4	131	1	0	0	0	0	1	0	0	0	1986	893	31	1	1577	1	C1orf113	1	36785787	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	149037	36785787	212464834	57	76232											
MRPS15	64960	broad.mit.edu	37	chr1	36921447	36921447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggctgtctgggttcctcCgctttgcttgtttttgggct	13	10	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:36921447C>T	uc001cas.2	-	8	880	c.716G>A	c.(715-717)CGG>CAG	p.R239Q		NM_031280	NP_112570	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15 precursor	239					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGGTTCCTCCGCTTTGCTTG	0.463													T	36921447	C	T	36921447	3	4	131	1	0	0	0	0	1	0	0	0	9825	652	23	1	61	1	MRPS15	1	36921447	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	135660	36921447	212329174	58	76233											
CSF3R	1441	broad.mit.edu	37	chr1	36934824	36934824	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctggtacaagggagtcacGatgatctcatagagctgaaa	11	8	2	3	rs142503546		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:36934824G>A	uc001caw.1	-	12	1687	c.1509C>T	c.(1507-1509)ATC>ATT	p.I503I	CSF3R_uc001cat.1_Silent_p.I66I|CSF3R_uc009vvc.1_Intron|CSF3R_uc001cau.1_5'UTR|CSF3R_uc001cav.1_Silent_p.I503I|CSF3R_uc001cax.1_Silent_p.I503I|CSF3R_uc001cay.1_Silent_p.I503I	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	503	Extracellular (Potential).|Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	AGGGAGTCACGATGATCTCAT	0.498													A	36934824	G	A	36934824	2	1	131	1	0	0	0	0	0	0	0	1	3937	1048	37	1		1	CSF3R	1	36934824	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	13377	36934824	212315797	59	76234											
EPHA10	284656	broad.mit.edu	37	chr1	38227453	38227453	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccctgcgtgaagctctcGtccgccgcgatcgtgtcgat	12	15	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:38227453G>A	uc009vvi.2	-	3	560	c.474C>T	c.(472-474)GAC>GAT	p.D158D	EPHA10_uc001cbw.3_Silent_p.D158D	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	158	Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGAAGCTCTCGTCCGCCGCGA	0.667													A	38227453	G	A	38227453	2	1	131	1	0	0	0	0	0	0	0	1	5166	1136	40	1		1	EPHA10	1	38227453	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1292629	38227453	211023168	60	76235											
MTF1	4520	broad.mit.edu	37	chr1	38288281	38288281	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctggggtggctcggagaGgccaggttgcagtacaagtg	19	7	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:38288281G>T	uc001cce.1	-	9	1420	c.1279C>A	c.(1279-1281)CTC>ATC	p.L427I	MTF1_uc009vvj.1_Missense_Mutation_p.L118I	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	427	Pro-rich.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGCTCGGAGAGGCCAGGTTGC	0.547													T	38288281	G	T	38288281	3	4	131	1	0	0	0	0	1	0	0	0	9922	1000	35	5	994	5	MTF1	1	38288281	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	60828	38288281	210962340	61	76236											
POU3F1	5453	broad.mit.edu	37	chr1	38512179	38512179	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggcccaatcgccgccgccGcctcctcccgtgggtagcca	11	21	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:38512179G>T	uc001ccp.1	-	1	272	c.237C>A	c.(235-237)GGC>GGA	p.G79G		NM_002699	NP_002690	Q03052	PO3F1_HUMAN	POU domain, class 3, transcription factor 1	79	Gly-rich.				positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGCCGCCGCCGCCTCCTCCCG	0.567													T	38512179	G	T	38512179	2	4	131	1	0	0	0	0	0	0	0	1	12274	1074	38	5		5	POU3F1	1	38512179	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	223898	38512179	210738442	62	76237											
PPT1	5538	broad.mit.edu	37	chr1	40546109	40546109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagaagatgctgtggttgCgatacacatcctcctttatg	9	10	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:40546109C>T	uc001cfb.2	-	6	819	c.587G>A	c.(586-588)CGC>CAC	p.R196H	PPT1_uc010ojf.1_Missense_Mutation_p.R146H|PPT1_uc010ojg.1_Missense_Mutation_p.R93H|PPT1_uc009vwa.2_RNA	NM_000310	NP_000301	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1 isoform 1	196					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			ovary(1)	1	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCTGTGGTTGCGATACACATC	0.468													T	40546109	C	T	40546109	3	4	131	1	0	0	0	0	1	0	0	0	12411	768	27	1	349	1	PPT1	1	40546109	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2033930	40546109	208704512	63	76238											
HIVEP3	59269	broad.mit.edu	37	chr1	42047178	42047178	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggcccttgcctcccgggggTccaccatgtgaggtggccgc	16	15	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:42047178T>A	uc001cgz.3	-	4	4504	c.3291A>T	c.(3289-3291)GGA>GGT	p.G1097G	HIVEP3_uc001cha.3_Silent_p.G1097G|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1097					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCCCGGGGGTCCACCATGTG	0.612													A	42047178	T	A	42047178	2	1	131	1	0	0	0	0	0	0	0	1	7188	1654	58	5		5	HIVEP3	1	42047178	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1501069	42047178	207203443	64	76239											
ELOVL1	64834	broad.mit.edu	37	chr1	43831048	43831048	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtagccctggatccggggatCtatgaataagggtcaaagga	14	7	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:43831048C>T	uc001ciz.2	-	4	290	c.47_splice	c.e4-1	p.D16_splice	ELOVL1_uc001cja.2_Splice_Site_p.D16_splice|ELOVL1_uc001cjb.2_Splice_Site_p.D16_splice|ELOVL1_uc001cjc.2_Splice_Site|ELOVL1_uc010okh.1_Splice_Site_p.D16_splice	NM_022821	NP_073732	Q9BW60	ELOV1_HUMAN	elongation of very long chain fatty acids-like						fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATCCGGGGATCTATGAATAAG	0.517													T	43831048	C	T	43831048	5	4	131	1	0	0	0	0	0	0	1	0	5073	927	32	4	817	4	ELOVL1	1	43831048	Splice_Site	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1783870	43831048	205419573	65	76240											
ST3GAL3	6487	broad.mit.edu	37	chr1	44202014	44202014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatttttgtattattctgcGtggaagctacacttactcca	8	8	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:44202014G>A	uc001ckc.2	+	2	258	c.81G>A	c.(79-81)GCG>GCA	p.A27A	ST3GAL3_uc009vwu.1_RNA|ST3GAL3_uc010okj.1_RNA|ST3GAL3_uc001cjz.2_Silent_p.A27A|ST3GAL3_uc001cka.2_Silent_p.A27A|ST3GAL3_uc001ckb.2_Silent_p.A27A|ST3GAL3_uc001ckd.2_Silent_p.A27A|ST3GAL3_uc001cke.2_Silent_p.A27A|ST3GAL3_uc001ckf.2_Silent_p.A27A|ST3GAL3_uc001ckg.2_Silent_p.A27A|ST3GAL3_uc001ckh.2_Silent_p.A27A|ST3GAL3_uc001cki.2_Silent_p.A27A|ST3GAL3_uc009vwv.2_Silent_p.A27A|ST3GAL3_uc001ckj.2_RNA|ST3GAL3_uc009vww.2_RNA|ST3GAL3_uc001ckk.2_Silent_p.A27A|ST3GAL3_uc009vwy.2_Translation_Start_Site|ST3GAL3_uc009vwx.2_RNA|ST3GAL3_uc001ckm.2_Silent_p.A27A|ST3GAL3_uc001ckl.2_Silent_p.A27A|ST3GAL3_uc009vwz.2_Translation_Start_Site|ST3GAL3_uc001ckn.2_RNA|ST3GAL3_uc001ckp.2_Silent_p.A27A|ST3GAL3_uc001cko.2_Silent_p.A27A|ST3GAL3_uc009vxa.2_Translation_Start_Site|ST3GAL3_uc001ckq.2_Silent_p.A27A|ST3GAL3_uc001ckr.2_Silent_p.A27A|ST3GAL3_uc009vxb.2_Silent_p.A27A	NM_006279	NP_006270	Q11203	SIAT6_HUMAN	sialyltransferase 6 isoform j	27	Helical; Signal-anchor for type II membrane protein; (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			ovary(3)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				ATTATTCTGCGTGGAAGCTAC	0.468													A	44202014	G	A	44202014	2	1	131	1	0	0	0	0	0	0	0	1	15215	1132	40	1		1	ST3GAL3	1	44202014	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	370966	44202014	205048607	66	76241											
KIF2C	11004	broad.mit.edu	37	chr1	45226082	45226082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagggaatgagcgaggcGcggacacttccagtgctgac	16	10	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:45226082G>A	uc001cmg.3	+	15	1613	c.1498G>A	c.(1498-1500)GCG>ACG	p.A500T	KIF2C_uc010olb.1_Missense_Mutation_p.A459T|KIF2C_uc010olc.1_Missense_Mutation_p.A387T|KIF2C_uc001cmh.3_Missense_Mutation_p.A446T	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	kinesin family member 2C	500	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					TGAGCGAGGCGCGGACACTTC	0.557													A	45226082	G	A	45226082	3	1	131	1	0	0	0	0	1	0	0	0	8299	1087	38	1	1556	1	KIF2C	1	45226082	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1024068	45226082	204024539	67	76242											
FAAH	2166	broad.mit.edu	37	chr1	46871370	46871370	+	Frame_Shift_Del	DEL	C	C	-													cctcatcgggtctggaggctCccccctgggcttaggcactg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:46871369_46871369TC>T	uc001cpu.2	+	4	770	c.688_688TC>T	c.(688-690)tccfs	p.S230fs	FAAH_uc001cpv.2_Non-coding_Transcript	NM_001441	NP_001432	O00519	FAAH1_HUMAN	Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	230					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GTCTGGAGGCTCCCCCCTGGG	0.642													-	46871370	C	-	46871370	7	5	131	1	0	1	0	1	0	0	0	0	5353	855	30	0	707	0	FAAH	1	46871370	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	1645288	46871370	202379251	68	76243											
MKNK1	8569	broad.mit.edu	37	chr1	47024370	47024370	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaggccatcagctagtgcCtctggctcctctgctagttc	10	14	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:47024370C>A	uc001cqb.2	-	14	1519	c.1275G>T	c.(1273-1275)GAG>GAT	p.E425D	MKNK1_uc010omd.1_Missense_Mutation_p.E289D|MKNK1_uc001cqc.2_Missense_Mutation_p.E384D|MKNK1_uc009vyi.2_3'UTR|MKNK1_uc010ome.1_3'UTR	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN	MAP kinase-interacting serine/threonine kinase 1	425					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2	Acute lymphoblastic leukemia(166;0.155)					CAGCTAGTGCCTCTGGCTCCT	0.617													A	47024370	C	A	47024370	3	1	131	1	0	0	0	0	1	0	0	0	9604	680	24	5	126	5	MKNK1	1	47024370	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	153000	47024370	202226251	69	76244											
MOBKL2C	148932	broad.mit.edu	37	chr1	47078650	47078650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcaatgccatatagcgcGgcgcagagagcttggcgggc	16	10	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:47078650G>A	uc001cqf.3	-	2	575	c.344C>T	c.(343-345)CCG>CTG	p.P115L	MKNK1_uc010omf.1_Intron|MOBKL2C_uc001cqe.3_Missense_Mutation_p.P167L	NM_201403	NP_958805	Q70IA8	MOL2C_HUMAN	MOB1, Mps One Binder kinase activator-like 2C	115							metal ion binding			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					CATATAGCGCGGCGCAGAGAG	0.657													A	47078650	G	A	47078650	3	1	131	1	0	0	0	0	1	0	0	0	9686	1116	39	1	318	1	MOBKL2C	1	47078650	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	54280	47078650	202171971	70	76245											
FOXD2	2306	broad.mit.edu	37	chr1	47903854	47903854	+	Frame_Shift_Del	DEL	C	C	-													gatcatgtcctccgagagctCcccggccgcgctgtccgagg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:47903854delC	uc001crm.2	+	1	2166	c.47delC	c.(46-48)TCCfs	p.S16fs		NM_004474	NP_004465	O60548	FOXD2_HUMAN	forkhead box D2	16					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0				READ - Rectum adenocarcinoma(2;0.0908)		TCCGAGAGCTCCCCGGCCGCG	0.677													-	47903854	C	-	47903854	7	5	131	1	0	1	0	1	0	0	0	0	5997	855	30	0	49	0	FOXD2	1	47903854	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	825204	47903854	201346767	71	76246											
SSBP3	23648	broad.mit.edu	37	chr1	54694479	54694479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccgcccatcggaccgtcCgagccgggacccatcgggaa	13	16	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:54694479C>T	uc001cxe.2	-	15	1246	c.948G>A	c.(946-948)TCG>TCA	p.S316S	SSBP3_uc001cxf.2_Silent_p.S296S|SSBP3_uc001cxg.2_Silent_p.S289S|SSBP3_uc001cxd.2_Silent_p.S5S	NM_145716	NP_663768	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3 isoform a	316	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding				0						TCGGACCGTCCGAGCCGGGAC	0.687													T	54694479	C	T	54694479	2	4	131	1	0	0	0	0	0	0	0	1	15180	639	23	1		1	SSBP3	1	54694479	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	6790625	54694479	194556142	72	76247											
PCSK9	255738	broad.mit.edu	37	chr1	55524222	55524222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacactcggggcctacaCggatggccacagccgtcgcc	12	17	0	0	rs141502002	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:55524222C>T	uc001cyf.1	+	9	1696	c.1405C>T	c.(1405-1407)CGG>TGG	p.R469W	PCSK9_uc010oom.1_RNA	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	469			R -> W.		cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			ovary(2)|central_nervous_system(1)|skin(1)	4						GGGGCCTACACGGATGGCCAC	0.647													T	55524222	C	T	55524222	3	4	131	1	0	0	0	0	1	0	0	0	11606	527	19	1	1439	1	PCSK9	1	55524222	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	829743	55524222	193726399	73	76248											
PRKAA2	5563	broad.mit.edu	37	chr1	57169680	57169680	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacaagatttgcccagttaCttatttcctgaagacccttc	5	11	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:57169680C>T	uc001cyk.3	+	7	896	c.825C>T	c.(823-825)TAC>TAT	p.Y275Y		NM_006252	NP_006243	P54646	AAPK2_HUMAN	AMP-activated protein kinase alpha 2 catalytic	275					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(4)|ovary(1)|stomach(1)	6						TGCCCAGTTACTTATTTCCTG	0.353													T	57169680	C	T	57169680	2	4	131	1	0	0	0	0	0	0	0	1	12494	576	20	4		4	PRKAA2	1	57169680	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1645458	57169680	192080941	74	76249											
C1orf168	199920	broad.mit.edu	37	chr1	57258264	57258264	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactttattttctgaggttgAagaggctgggactcactact	10	7	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:57258264A>G	uc001cym.3	-	2	628	c.222T>C	c.(220-222)CTT>CTC	p.L74L	C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Silent_p.L74L	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	hypothetical protein LOC199920	74										ovary(3)|skin(2)	5						TCTGAGGTTGAAGAGGCTGGG	0.468													G	57258264	A	G	57258264	2	3	131	1	0	0	0	0	0	0	0	1	2012	233	9	3		3	C1orf168	1	57258264	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	88584	57258264	191992357	75	76250											
DAB1	1600	broad.mit.edu	37	chr1	57480759	57480759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctggaaatccttaaacGtttctttgcccattttctgc	5	12	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:57480759G>A	uc001cys.1	-	14	1915	c.1241C>T	c.(1240-1242)ACG>ATG	p.T414M	DAB1_uc001cyt.1_Missense_Mutation_p.T412M|DAB1_uc001cyq.1_Missense_Mutation_p.T412M|DAB1_uc001cyr.1_Missense_Mutation_p.T328M|DAB1_uc009vzw.1_Missense_Mutation_p.T396M|DAB1_uc009vzx.1_Missense_Mutation_p.T414M	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	447					cell differentiation|nervous system development					skin(2)|ovary(1)	3						ATCCTTAAACGTTTCTTTGCC	0.607													A	57480759	G	A	57480759	3	1	131	1	0	0	0	0	1	0	0	0	4217	1145	40	1	438	1	DAB1	1	57480759	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	222495	57480759	191769862	76	76251											
HOOK1	51361	broad.mit.edu	37	chr1	60314140	60314140	+	Frame_Shift_Del	DEL	A	A	-													gtcagcttagaagaagaattAaaaaaagcaaatgcagcacg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:60314140delA	uc009wad.2	+	12	1185	c.1083delA	c.(1081-1083)TTAfs	p.L361fs	HOOK1_uc001czo.2_Frame_Shift_Del_p.L361fs|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Frame_Shift_Del_p.L319fs	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	361	Potential.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)					AAGAAGAATTAAAAAAAGCAA	0.318													-	60314140	A	-	60314140	7	5	131	1	0	1	0	1	0	0	0	0	7282	359	13	0	1125	0	HOOK1	1	60314140	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	2833381	60314140	188936481	77	76252											
C1orf87	127795	broad.mit.edu	37	chr1	60491137	60491137	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttccagcaggctcagggtcaGatataatccatgcttcccac	8	13	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:60491137G>A	uc001czs.1	-	8	1155	c.1063C>T	c.(1063-1065)CTG>TTG	p.L355L		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	hypothetical protein LOC127795	355							calcium ion binding			ovary(1)|breast(1)	2						CTCAGGGTCAGATATAATCCA	0.294													A	60491137	G	A	60491137	2	1	131	1	0	0	0	0	0	0	0	1	2064	933	33	4		4	C1orf87	1	60491137	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	176997	60491137	188759484	78	76253											
KANK4	163782	broad.mit.edu	37	chr1	62740426	62740427	+	Frame_Shift_Ins	INS	-	-	G													actcctgcttgttgaggcctINSggggggcattaccaagcggt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:62740426_62740427insG	uc001dah.3	-	3	726_727	c.349_350insC	c.(349-351)CAGfs	p.Q117fs	KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	117										ovary(3)|skin(2)|lung(1)	6						TGTTGAGGCCTGGGGGGCATTA	0.609													G	62740427	-	G	62740426	7	5	131	1	0	1	1	0	0	0	0	0	7979	1580	55	0	2669	0	KANK4	1	62740426	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	2249289	62740426	186510195	79	76254	343	2									
KANK4	163782	broad.mit.edu	37	chr1	62740427	62740428	+	Frame_Shift_Ins	INS	-	-	G													ctcctgcttgttgaggcctgINSgggggcattaccaagcggtg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:62740426_62740427T>TG	uc001dah.4	-	2	726_727	c.349_350A>CA	c.(349-351)cagfs	p.Q117fs	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	117										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TGTTGAGGCCTGGGGGGCATTA	0.609													G	62740428	-	G	62740427	7	5	131	1	0	1	1	0	0	0	0	0	7979	1357	47	0	2670	0	KANK4	1	62740427	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	62740427	186510194	80	76255	343	2									
DOCK7	85440	broad.mit.edu	37	chr1	62961311	62961311	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgttccttcattttcacagtAtcagaaagaatcatatggag	7	7	4	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:62961311A>T	uc001daq.2	-	39	4972	c.4938T>A	c.(4936-4938)GAT>GAA	p.D1646E	DOCK7_uc001dan.2_Missense_Mutation_p.D1507E|DOCK7_uc001dao.2_Missense_Mutation_p.D1507E|DOCK7_uc001dap.2_Missense_Mutation_p.D1624E|DOCK7_uc001dam.2_Missense_Mutation_p.D826E|DOCK7_uc010oov.1_Missense_Mutation_p.D385E	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1655	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						TTTTCACAGTATCAGAAAGAA	0.348													T	62961311	A	T	62961311	3	4	131	1	0	0	0	0	1	0	0	0	4692	446	16	5	1505	5	DOCK7	1	62961311	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	220884	62961311	186289310	81	76256											
ALG6	29929	broad.mit.edu	37	chr1	63876980	63876980	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttacttggcaagtgttttAaaaaaggcctcaaaggaaag	9	5	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:63876980A>T	uc010oow.1	+	8	963	c.658A>T	c.(658-660)AAA>TAA	p.K220*	ALG6_uc001daz.2_RNA|ALG6_uc009waj.2_RNA|ALG6_uc010oox.1_Nonsense_Mutation_p.K19*	NM_013339	NP_037471	Q9Y672	ALG6_HUMAN	dolichyl pyrophosphate Man9GlcNAc2	220					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity				0						CAAGTGTTTTAAAAAAGGCCT	0.353													T	63876980	A	T	63876980	4	4	131	1	0	0	0	0	0	1	0	0	522	363	13	5	684	5	ALG6	1	63876980	Nonsense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	915669	63876980	185373641	82	76257											
EFCAB7	84455	broad.mit.edu	37	chr1	64027499	64027499	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtaactctacactctatgGgctacaataaagctctggag	10	9	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:64027499G>T	uc001dbf.2	+	11	1762	c.1468G>T	c.(1468-1470)GGC>TGC	p.G490C		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	490							calcium ion binding				0						ACACTCTATGGGCTACAATAA	0.348													T	64027499	G	T	64027499	3	4	131	1	0	0	0	0	1	0	0	0	4940	1232	43	5	1506	5	EFCAB7	1	64027499	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	150519	64027499	185223122	83	76258											
RAVER2	55225	broad.mit.edu	37	chr1	65296646	65296647	+	Frame_Shift_Ins	INS	-	-	A													tattacatggaaacttacttINSaaaaaagaagcgagtatact							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:65296646_65296647insA	uc001dbs.1	+	12	2093_2094	c.2015_2016insA	c.(2014-2016)TTAfs	p.L672fs	RAVER2_uc001dbt.1_Frame_Shift_Ins_p.L564fs|RAVER2_uc010opb.1_Frame_Shift_Ins_p.L397fs	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	685						cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)	1						GAAACTTACTTAAAAAAGAAGC	0.446													A	65296647	-	A	65296646	7	5	131	1	0	1	1	0	0	0	0	0	13095	1764	61	0	2061	0	RAVER2	1	65296646	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1269147	65296646	183953975	84	76259	344	2									
RAVER2	55225	broad.mit.edu	37	chr1	65296647	65296648	+	Frame_Shift_Ins	INS	-	-	A													attacatggaaacttacttaINSaaaaagaagcgagtatactg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:65296646_65296647T>TA	uc001dbt.2	+	9	1738_1739	c.1691_1692T>TA	c.(1690-1692)ttafs	p.L564fs	RAVER2_uc001dbs.2_Frame_Shift_Ins_p.L672fs|RAVER2_uc010opb.2_Frame_Shift_Ins_p.L397fs	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 2 (RAVER2), mRNA.	685						cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GAAACTTACTTAAAAAAGAAGC	0.446													A	65296648	-	A	65296647	7	5	131	1	0	1	1	0	0	0	0	0	13095	359	13	0	2062	0	RAVER2	1	65296647	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	65296647	183953974	85	76260	344	2									
IL12RB2	3595	broad.mit.edu	37	chr1	67861595	67861595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggctacttaccctccaaCatagatgacctcccctcaca	5	16	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:67861595C>T	uc001ddu.2	+	16	3052	c.2412C>T	c.(2410-2412)AAC>AAT	p.N804N	IL12RB2_uc010oqi.1_3'UTR|IL12RB2_uc010oqj.1_3'UTR|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Silent_p.N718N|IL12RB2_uc010oqm.1_3'UTR|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	804	Cytoplasmic (Potential).			N->A: No effect on in vitro STAT4 binding to a phosphorylated Y-800 peptide.	positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						TACCCTCCAACATAGATGACC	0.572													T	67861595	C	T	67861595	2	4	131	1	0	0	0	0	0	0	0	1	7627	477	17	4		4	IL12RB2	1	67861595	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2564948	67861595	181389026	86	76261											
ZRANB2	9406	broad.mit.edu	37	chr1	71544212	71544212	+	Frame_Shift_Del	DEL	C	C	-													gtgtctttcctatttcagtgCccccagctttcatcatcttg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:71544212delC	uc001dft.2	-	3	213	c.146delG	c.(145-147)GGCfs	p.G49fs	uc001dfu.1_5'Flank|ZRANB2_uc001dfs.2_Frame_Shift_Del_p.G49fs	NM_203350	NP_976225	O95218	ZRAB2_HUMAN	zinc finger protein 265 isoform 1	49					mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						TATTTCAGTGCCCCCAGCTTT	0.358													-	71544212	C	-	71544212	7	5	131	1	0	1	0	1	0	0	0	0	18220	739	26	0	916	0	ZRANB2	1	71544212	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	3682617	71544212	177706409	87	76262											
LRRIQ3	127255	broad.mit.edu	37	chr1	74649219	74649219	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagatgcatactctaagagaGatgcaagactgcaaattttc	8	7	1	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:74649219G>A	uc001dfy.3	-	2	342	c.150C>T	c.(148-150)ATC>ATT	p.I50I	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	50										ovary(2)	2						ctctaagagagatgcaagact	0.154													A	74649219	G	A	74649219	2	1	131	1	0	0	0	0	0	0	0	1	9030	932	33	4		4	LRRIQ3	1	74649219	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	3105007	74649219	174601402	88	76263											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	76779524	76779524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtgagcttcatagcagCgttccttttcctgctggttg	11	10	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:76779524C>T	uc001dhh.2	+	2	216	c.53C>T	c.(52-54)GCG>GTG	p.A18V	ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.A18V|ST6GALNAC3_uc010orh.1_Intron	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	sialyltransferase 7C isoform 1	18	Helical; Signal-anchor for type II membrane protein; (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			ovary(3)|skin(2)	5						TTCATAGCAGCGTTCCTTTTC	0.403													T	76779524	C	T	76779524	3	4	131	1	0	0	0	0	1	0	0	0	15224	768	27	1	59	1	ST6GALNAC3	1	76779524	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2130305	76779524	172471097	89	76264											
IFI44L	10964	broad.mit.edu	37	chr1	79102859	79102859	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaatgttggcaaaagtgaAgcaagttcacaaagaagtat	9	4	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:79102859A>G	uc010oro.1	+	6	1198	c.1019A>G	c.(1018-1020)AAG>AGG	p.K340R	IFI44L_uc010orp.1_Missense_Mutation_p.K77R|IFI44L_uc010orq.1_Missense_Mutation_p.K77R	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	340						cytoplasm					0						GCAAAAGTGAAGCAAGTTCAC	0.289													G	79102859	A	G	79102859	3	3	131	1	0	0	0	0	1	0	0	0	7518	72	3	3	1037	3	IFI44L	1	79102859	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	2323335	79102859	170147762	90	76265											
PKN2	5586	broad.mit.edu	37	chr1	89206848	89206848	+	Frame_Shift_Del	DEL	A	A	-													tgaggaaagtcacaacagatAaaaaaagtttggcttatgta							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:89206848delA	uc001dmn.2	+	2	568	c.226delA	c.(226-228)AAAfs	p.K76fs	PKN2_uc001dmm.1_Frame_Shift_Del_p.K76fs|PKN2_uc010osp.1_Frame_Shift_Del_p.K76fs|PKN2_uc010osq.1_Intron|PKN2_uc009wcv.2_Frame_Shift_Del_p.K76fs	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	76	REM 1.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CACAACAGATAAAAAAAGTTT	0.308													-	89206848	A	-	89206848	7	5	131	1	0	1	0	1	0	0	0	0	11980	363	13	0	232	0	PKN2	1	89206848	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	10103989	89206848	160043773	91	76266											
TGFBR3	7049	broad.mit.edu	37	chr1	92177814	92177814	+	Frame_Shift_Del	DEL	G	G	-													acaaaccttaggcaacttctGggggtgcttctccatcttcg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:92177814delG	uc001doh.2	-	13	2618	c.2152delC	c.(2152-2154)CAGfs	p.Q718fs	TGFBR3_uc009wde.2_Frame_Shift_Del_p.Q413fs|TGFBR3_uc010osy.1_Frame_Shift_Del_p.Q676fs|TGFBR3_uc001doi.2_Frame_Shift_Del_p.Q717fs|TGFBR3_uc001doj.2_Frame_Shift_Del_p.Q717fs	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	718	ZP.|Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GGCAACTTCTGGGGGTGCTTC	0.463													-	92177814	G	-	92177814	7	5	131	1	0	1	0	1	0	0	0	0	15820	1357	47	0	423	0	TGFBR3	1	92177814	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	2970966	92177814	157072807	92	76267											
TGFBR3	7049	broad.mit.edu	37	chr1	92178028	92178028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatgagacatcctatcaggGttcgaatatggagagataaa	10	5	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:92178028G>A	uc001doh.2	-	13	2404	c.1938C>T	c.(1936-1938)AAC>AAT	p.N646N	TGFBR3_uc009wde.2_Intron|TGFBR3_uc010osy.1_Silent_p.N604N|TGFBR3_uc001doi.2_Silent_p.N645N|TGFBR3_uc001doj.2_Silent_p.N645N	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	646	ZP.|Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCCTATCAGGGTTCGAATATG	0.393													A	92178028	G	A	92178028	2	1	131	1	0	0	0	0	0	0	0	1	15820	1252	44	4		4	TGFBR3	1	92178028	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	214	92178028	157072593	93	76268											
EVI5	7813	broad.mit.edu	37	chr1	93202119	93202119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatctgactgactgtatgCgatactgtgttcttcaccca	8	12	3	2	rs140717428		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:93202119C>T	uc001dox.2	-	2	127	c.117G>A	c.(115-117)TCG>TCA	p.S39S	EVI5_uc010otf.1_Silent_p.S39S	NM_005665	NP_005656	O60447	EVI5_HUMAN	ecotropic viral integration site 5	39	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			ovary(1)|breast(1)	2		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TGACTGTATGCGATACTGTGT	0.438													T	93202119	C	T	93202119	2	4	131	1	0	0	0	0	0	0	0	1	5289	755	27	1		1	EVI5	1	93202119	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1024091	93202119	156048502	94	76269											
MTF2	22823	broad.mit.edu	37	chr1	93599728	93599728	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagtgcaaaagaaactacctCgtctagcatttccaggcatt	7	11	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:93599728C>A	uc009wdj.2	+	14	1692	c.1400C>A	c.(1399-1401)TCG>TAG	p.S467*	MTF2_uc010oth.1_Nonsense_Mutation_p.S365*|MTF2_uc009wdk.2_Nonsense_Mutation_p.S410*|MTF2_uc001dpi.3_Nonsense_Mutation_p.S194*|MTF2_uc010oti.1_Nonsense_Mutation_p.S365*|MTF2_uc001dpj.3_Nonsense_Mutation_p.S365*|MTF2_uc001dpl.3_Nonsense_Mutation_p.S365*|MTF2_uc001dpm.3_Nonsense_Mutation_p.S136*	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription	467						nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GAAACTACCTCGTCTAGCATT	0.343													A	93599728	C	A	93599728	4	1	131	1	0	0	0	0	0	1	0	0	9923	893	31	5	1454	5	MTF2	1	93599728	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	397609	93599728	155650893	95	76270											
AGL	178	broad.mit.edu	37	chr1	100330058	100330058	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagacctaatagaaagtatAcctggaatgatgttggacag	10	6	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:100330058A>G	uc001dsi.1	+	5	977	c.577A>G	c.(577-579)ACC>GCC	p.T193A	AGL_uc001dsj.1_Missense_Mutation_p.T193A|AGL_uc001dsk.1_Missense_Mutation_p.T193A|AGL_uc001dsl.1_Missense_Mutation_p.T193A|AGL_uc001dsm.1_Missense_Mutation_p.T177A|AGL_uc001dsn.1_Missense_Mutation_p.T176A	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	193	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TAGAAAGTATACCTGGAATGA	0.358													G	100330058	A	G	100330058	3	3	131	1	0	0	0	0	1	0	0	0	384	391	14	3	660	3	AGL	1	100330058	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	6730330	100330058	148920563	96	76271											
LRRC39	127495	broad.mit.edu	37	chr1	100618013	100618013	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taattcccgttcctcttcttCatctgtgccttcactgggag	7	13	5	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:100618013C>T	uc001dsw.1	-	9	1079	c.880G>A	c.(880-882)GAA>AAA	p.E294K	LRRC39_uc001dsx.1_Missense_Mutation_p.E294K|LRRC39_uc001dsy.1_Missense_Mutation_p.E294K|LRRC39_uc001dsz.1_Missense_Mutation_p.E294K	NM_144620	NP_653221	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	294	Poly-Glu.									ovary(2)|skin(1)	3		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TCCTCTTCTTCATCTGTGCCT	0.373													T	100618013	C	T	100618013	3	4	131	1	0	0	0	0	1	0	0	0	8995	835	29	4	135	4	LRRC39	1	100618013	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	287955	100618013	148632608	97	76272											
RTCD1	8634	broad.mit.edu	37	chr1	100756997	100756997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatcagaagatgaagaagaCgccgctaaagatacttatat	8	6	1	6			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:100756997C>T	uc001dtc.2	+	11	1256	c.1038C>T	c.(1036-1038)GAC>GAT	p.D346D	RTCD1_uc001dtd.2_Silent_p.D359D	NM_003729	NP_003720	O00442	RTC1_HUMAN	RNA terminal phosphate cyclase domain 1 isoform	346					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)		ATGAAGAAGACGCCGCTAAAG	0.343													T	100756997	C	T	100756997	2	4	131	1	0	0	0	0	0	0	0	1	13718	535	19	1		1	RTCD1	1	100756997	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	138984	100756997	148493624	98	76273											
CDC14A	8556	broad.mit.edu	37	chr1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-													gcactcctgtctggctcaaaCcccccctatcttccattcag					rs138415707		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:100889836_100889836AC>A	uc001dtf.2	+	4	856	c.368_368AC>A	c.(367-369)aacfs	p.N123fs	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Frame_Shift_Del_p.N65fs|CDC14A_uc001dte.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wed.1_5'UTR|CDC14A_uc001dtg.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wee.3_Frame_Shift_Del_p.N123fs	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	123	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTGGCTCAAACCCCCCCTAT	0.403													-	100889837	C	-	100889837	7	5	131	1	0	1	0	1	0	0	0	0	3056	506	18	0	387	0	CDC14A	1	100889837	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	132840	100889837	148360784	99	76274											
S1PR1	1901	broad.mit.edu	37	chr1	101705418	101705418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgacatcctcttcagagCggagtacttcctggtgttag	11	10	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:101705418C>T	uc001dud.2	+	2	1392	c.878C>T	c.(877-879)GCG>GTG	p.A293V	S1PR1_uc009weg.2_Missense_Mutation_p.A293V	NM_001400	NP_001391	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	293	Extracellular (By similarity).				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)	3						CTCTTCAGAGCGGAGTACTTC	0.562													T	101705418	C	T	101705418	3	4	131	1	0	0	0	0	1	0	0	0	13793	768	27	1	880	1	S1PR1	1	101705418	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	815581	101705418	147545203	100	76275											
COL11A1	1301	broad.mit.edu	37	chr1	103491152	103491152	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatagttgtattcttgaaaAtcatcaacgatgtttgccta	6	8	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:103491152A>G	uc001dul.2	-	7	1233	c.915T>C	c.(913-915)GAT>GAC	p.D305D	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Silent_p.D317D|COL11A1_uc001dun.2_Silent_p.D266D|COL11A1_uc009weh.2_Intron	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	305	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATTCTTGAAAATCATCAACGA	0.338													G	103491152	A	G	103491152	2	3	131	1	0	0	0	0	0	0	0	1	3667	98	4	3		3	COL11A1	1	103491152	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1785734	103491152	145759469	101	76276											
AMY2B	280	broad.mit.edu	37	chr1	104120145	104120145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggttgggccaccaaataatAatggagtaattaaagaagtt	11	4	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:104120145A>G	uc001duq.2	+	10	1751	c.1135A>G	c.(1135-1137)AAT>GAT	p.N379D	AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.N379D|AMY2B_uc001dus.1_RNA	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	379					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ACCAAATAATAATGGAGTAAT	0.363													G	104120145	A	G	104120145	3	3	131	1	0	0	0	0	1	0	0	0	595	362	13	3	1165	3	AMY2B	1	104120145	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	628993	104120145	145130476	102	76277											
GPR61	83873	broad.mit.edu	37	chr1	110086776	110086778	+	In_Frame_Del	DEL	GAG	GAG	-													ctagccgggagggctccattGaggagaacttcctgcagttc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:110086776_110086778delGAG	uc001dxy.2	+	2	1815_1817	c.1132_1134delGAG	c.(1132-1134)GAGdel	p.E379del		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	379	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGGCTCCATTGAGGAGAACTTCC	0.611													-	110086778	GAG	-	110086776	7	5	131	1	0	1	0	1	0	0	0	0	6702	1291	45	0	1134	0	GPR61	1	110086776	In_Frame_Del	DEL	GAG	TCGA-BR-A4QL-01A-31D-A25D-08	5966631	110086776	139163845	103	76278											
EPS8L3	79574	broad.mit.edu	37	chr1	110300588	110300588	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctggtccttgttttttttCccaaatttcttcttcctgct	4	13	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:110300588C>T	uc001dyr.1	-	9	955	c.810G>A	c.(808-810)GGG>GGA	p.G270G	EPS8L3_uc001dys.1_Silent_p.G270G|EPS8L3_uc001dyq.1_Silent_p.G271G|EPS8L3_uc009wfm.1_Silent_p.G237G|EPS8L3_uc009wfn.1_Silent_p.G245G|EPS8L3_uc009wfo.1_Silent_p.G217G	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	270						cytoplasm	protein binding			ovary(2)|skin(1)	3		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TGTTTTTTTTCCCAAATTTCT	0.557													T	110300588	C	T	110300588	2	4	131	1	0	0	0	0	0	0	0	1	5197	842	30	4		4	EPS8L3	1	110300588	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	213812	110300588	138950033	104	76279											
KCNA3	3738	broad.mit.edu	37	chr1	111216137	111216137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccaccagaaggcatccGggatgctgctgaaacctgaa	11	13	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:111216137G>A	uc001dzv.1	-	1	1519	c.1295C>T	c.(1294-1296)CCG>CTG	p.P432L		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	432						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAGGCATCCGGGATGCTGCT	0.547													A	111216137	G	A	111216137	3	1	131	1	0	0	0	0	1	0	0	0	8004	1116	39	1	436	1	KCNA3	1	111216137	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	915549	111216137	138034484	105	76280											
KCNA3	3738	broad.mit.edu	37	chr1	111217309	111217309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcggcctgcggcgggctcCgcgtagccgtggttcaccag	16	15	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:111217309C>T	uc001dzv.1	-	1	347	c.123G>A	c.(121-123)GCG>GCA	p.A41A		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	41						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGCGGGCTCCGCGTAGCCGT	0.781													T	111217309	C	T	111217309	2	4	131	1	0	0	0	0	0	0	0	1	8004	639	23	1		1	KCNA3	1	111217309	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1172	111217309	138033312	106	76281											
MAGI3	260425	broad.mit.edu	37	chr1	114225544	114225544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggatattaataatccttcGtcttcaaatgtgatttatga	7	5	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:114225544G>A	uc001edk.2	+	21	3535	c.3354G>A	c.(3352-3354)TCG>TCA	p.S1118S	MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	1143					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAATCCTTCGTCTTCAAATG	0.318													A	114225544	G	A	114225544	2	1	131	1	0	0	0	0	0	0	0	1	9192	1132	40	1		1	MAGI3	1	114225544	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	3008235	114225544	135025077	107	76282											
SLC22A15	55356	broad.mit.edu	37	chr1	116534699	116534699	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgcactggttggggccacGccatcctaccactgggacct	11	14	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:116534699G>A	uc001egb.3	+	2	265	c.135G>A	c.(133-135)ACG>ACA	p.T45T	SLC22A15_uc001ega.2_Silent_p.T45T	NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	45					ion transport	integral to membrane	transmembrane transporter activity	p.T45M(1)		large_intestine(2)	2	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTGGGGCCACGCCATCCTACC	0.557													A	116534699	G	A	116534699	2	1	131	1	0	0	0	0	0	0	0	1	14446	1074	38	1		1	SLC22A15	1	116534699	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2309155	116534699	132715922	108	76283											
IGSF3	3321	broad.mit.edu	37	chr1	117150572	117150572	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctctacttactgagggggAggactatgatggggatgttc	14	7	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:117150572A>G	uc001egr.1	-	5	1919	c.1214T>C	c.(1213-1215)CTC>CCC	p.L405P	IGSF3_uc001egq.1_Missense_Mutation_p.L405P|IGSF3_uc001egs.1_Missense_Mutation_p.L78P	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	405	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ACTGAGGGGGAGGACTATGAT	0.517													G	117150572	A	G	117150572	3	3	131	1	0	0	0	0	1	0	0	0	7601	304	11	3	2462	3	IGSF3	1	117150572	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	615873	117150572	132100049	109	76284											
IGSF3	3321	broad.mit.edu	37	chr1	117150721	117150721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcacaaagacactgtcGctctctttggccaccttaag	7	13	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:117150721G>A	uc001egr.1	-	5	1770	c.1065C>T	c.(1063-1065)AGC>AGT	p.S355S	IGSF3_uc001egq.1_Silent_p.S355S|IGSF3_uc001egs.1_Silent_p.S28S	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	355	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGACACTGTCGCTCTCTTTGG	0.567													A	117150721	G	A	117150721	2	1	131	1	0	0	0	0	0	0	0	1	7601	1078	38	1		1	IGSF3	1	117150721	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	149	117150721	132099900	110	76285											
IGSF3	3321	broad.mit.edu	37	chr1	117150811	117150811	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgttaggacccatggtggcGatgagcgagctgttgaaggc	17	8	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:117150811G>A	uc001egr.1	-	5	1680	c.975C>T	c.(973-975)ATC>ATT	p.I325I	IGSF3_uc001egq.1_Silent_p.I325I|IGSF3_uc001egs.1_5'UTR	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	325	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCATGGTGGCGATGAGCGAGC	0.582													A	117150811	G	A	117150811	2	1	131	1	0	0	0	0	0	0	0	1	7601	1048	37	1		1	IGSF3	1	117150811	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	90	117150811	132099810	111	76286											
SPAG17	200162	broad.mit.edu	37	chr1	118567980	118567980	+	Frame_Shift_Del	DEL	G	G	-													ctcatagtgcttcaccctctGggggtagctctgacggacca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:118567980delG	uc001ehk.2	-	27	3858	c.3790delC	c.(3790-3792)CAGfs	p.Q1264fs		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1264						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCACCCTCTGGGGGTAGCTC	0.458													-	118567980	G	-	118567980	7	5	131	1	0	1	0	1	0	0	0	0	14979	1357	47	0	2969	0	SPAG17	1	118567980	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	1417169	118567980	130682641	112	76287											
HAO2	51179	broad.mit.edu	37	chr1	119923812	119923812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagatgacagcatcacgcGggatgacaacattgcagcat	11	10	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:119923812G>A	uc001ehq.1	+	3	456	c.104G>A	c.(103-105)CGG>CAG	p.R35Q	HAO2_uc001ehr.1_Missense_Mutation_p.R35Q	NM_001005783	NP_001005783	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2	35	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			ovary(2)|skin(2)	4	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		AGCATCACGCGGGATGACAAC	0.483													A	119923812	G	A	119923812	3	1	131	1	0	0	0	0	1	0	0	0	6952	1116	39	1	106	1	HAO2	1	119923812	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1355832	119923812	129326809	113	76288											
HMGCS2	3158	broad.mit.edu	37	chr1	120302555	120302555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccggccccacctgtgggaCgagcattaccactgggatag	12	14	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:120302555C>T	uc001eid.2	-	3	668	c.617G>A	c.(616-618)CGT>CAT	p.R206H	HMGCS2_uc010oxj.1_Intron|HMGCS2_uc001eie.2_Missense_Mutation_p.R114H	NM_005518	NP_005509	P54868	HMCS2_HUMAN	hydroxymethylglutaryl-CoA synthase 2 isoform 1	206					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			ovary(2)	2	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		ACCTGTGGGACGAGCATTACC	0.517													T	120302555	C	T	120302555	3	4	131	1	0	0	0	0	1	0	0	0	7233	536	19	1	937	1	HMGCS2	1	120302555	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	378743	120302555	128948066	114	76289											
NOTCH2	4853	broad.mit.edu	37	chr1	120539712	120539712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacagggcacatacaggCtgtcacagtactggcctgtg	13	11	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:120539712C>T	uc001eik.2	-	4	915	c.659G>A	c.(658-660)AGC>AAC	p.S220N	NOTCH2_uc001eil.2_Missense_Mutation_p.S220N|NOTCH2_uc001eim.3_Missense_Mutation_p.S137N	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	220	Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACATACAGGCTGTCACAGTA	0.577			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				T	120539712	C	T	120539712	3	4	131	1	0	0	0	0	1	0	0	0	10548	797	28	2	6880	2	NOTCH2	1	120539712	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	237157	120539712	128710909	115	76290											
PDE4DIP	9659	broad.mit.edu	37	chr1	144877213	144877213	+	Frame_Shift_Del	DEL	T	T	-													aatacctctcccttctcgtaTtttttgccgtaggtaagaca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:144877212_144877212AT>A	uc021ouh.1	-	27	4777	c.4475_4475AT>T	c.(4474-4476)atafs	p.I1492fs	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Frame_Shift_Del_p.I1492fs|PDE4DIP_uc001elx.4_Frame_Shift_Del_p.I1448fs|PDE4DIP_uc001elv.4_Frame_Shift_Del_p.I499fs	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1492					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCCTTCTCGTATTTTTTGCCG	0.418			T	PDGFRB	MPD								-	144877213	T	-	144877213	7	5	131	1	0	1	0	1	0	0	0	0	11643	1493	52	0	2634	0	PDE4DIP	1	144877213	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	24337501	144877213	104373408	116	76291											
PIAS3	10401	broad.mit.edu	37	chr1	145581207	145581207	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaaattgactgctgacccTgacagtgaggtggccactac	12	10	0	5			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:145581207T>C	uc001eoc.1	+	8	1027	c.936T>C	c.(934-936)CCT>CCC	p.P312P	NBPF10_uc001emp.3_Intron|PIAS3_uc001eod.1_5'UTR	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	312	SP-RING-type.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGCTGACCCTGACAGTGAGG	0.562													C	145581207	T	C	145581207	2	2	131	1	0	0	0	0	0	0	0	1	11877	1567	55	3		3	PIAS3	1	145581207	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	703994	145581207	103669414	117	76292											
BCL9	607	broad.mit.edu	37	chr1	147096166	147096166	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatccgacctggagccacCggaatacctgagtttgatct	10	12	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:147096166C>T	uc001epq.2	+	10	4427	c.3687C>T	c.(3685-3687)ACC>ACT	p.T1229T	BCL9_uc010ozr.1_Silent_p.T1143T	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1229	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					CTGGAGCCACCGGAATACCTG	0.567			T	IGH@|IGL@	B-ALL								T	147096166	C	T	147096166	2	4	131	1	0	0	0	0	0	0	0	1	1381	639	23	1		1	BCL9	1	147096166	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1514959	147096166	102154455	118	76293											
GJA5	2702	broad.mit.edu	37	chr1	147230552	147230552	+	Frame_Shift_Del	DEL	G	G	-													tccaggcactgattaaagtcGgggggtggtgtgcagctctg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:147230552delG	uc001eps.1	-	2	936	c.795delC	c.(793-795)CCCfs	p.P265fs	GJA5_uc001ept.1_Frame_Shift_Del_p.P265fs	NM_181703	NP_859054	P36382	CXA5_HUMAN	connexin 40	265	Cytoplasmic (Potential).				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				ovary(1)	1	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GATTAAAGTCGGGGGGTGGTG	0.532													-	147230552	G	-	147230552	7	5	131	1	0	1	0	1	0	0	0	0	6404	1103	39	0	285	0	GJA5	1	147230552	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	134386	147230552	102020069	119	76294											
SV2A	9900	broad.mit.edu	37	chr1	149882489	149882489	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tttctcctgggccagaaactCggagaaataggagaagacaa	11	8	1	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:149882489C>G	uc001etg.2	-	4	1335	c.844G>C	c.(844-846)GAG>CAG	p.E282Q	SV2A_uc001eth.2_Missense_Mutation_p.E282Q	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	282	Helical; (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GCCAGAAACTCGGAGAAATAG	0.522													G	149882489	C	G	149882489	3	3	131	1	0	0	0	0	1	0	0	0	15414	893	31	5	1424	5	SV2A	1	149882489	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2651937	149882489	99368132	120	76295											
RPRD2	23248	broad.mit.edu	37	chr1	150445057	150445057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagagagagccagtgggGccatcatctgccccacctgt	11	14	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:150445057G>A	uc009wlr.2	+	11	3834	c.3633G>A	c.(3631-3633)GGG>GGA	p.G1211G	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Silent_p.G1185G	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	1211	Pro-rich.						protein binding			ovary(1)	1						AGCCAGTGGGGCCATCATCTG	0.532													A	150445057	G	A	150445057	2	1	131	1	0	0	0	0	0	0	0	1	13617	1190	42	2		2	RPRD2	1	150445057	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	562568	150445057	98805564	121	76296											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150525976	150525976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgcattgccactgcaccGgaaccgcaggcaccctcgga	10	16	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:150525976G>A	uc001eux.2	+	6	745	c.509G>A	c.(508-510)CGG>CAG	p.R170Q	ADAMTSL4_uc001euw.2_Missense_Mutation_p.R170Q|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.R170Q|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.R170Q	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	170					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCACTGCACCGGAACCGCAGG	0.587													A	150525976	G	A	150525976	3	1	131	1	0	0	0	0	1	0	0	0	277	1116	39	1	523	1	ADAMTSL4	1	150525976	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	80919	150525976	98724645	122	76297											
POGZ	23126	broad.mit.edu	37	chr1	151397495	151397495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatcgtggacatattttcCgtccaccatcctggaggtca	8	12	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:151397495C>T	uc001eyd.1	-	8	1427	c.1121G>A	c.(1120-1122)CGG>CAG	p.R374Q	POGZ_uc001eye.1_Missense_Mutation_p.R321Q|POGZ_uc010pdb.1_Missense_Mutation_p.R365Q|POGZ_uc001eyf.1_Missense_Mutation_p.R321Q|POGZ_uc010pdc.1_Missense_Mutation_p.R312Q|POGZ_uc009wmv.1_Missense_Mutation_p.R279Q|POGZ_uc010pdd.1_Intron	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	374					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACATATTTTCCGTCCACCATC	0.403													T	151397495	C	T	151397495	3	4	131	1	0	0	0	0	1	0	0	0	12186	652	23	1	3159	1	POGZ	1	151397495	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	871519	151397495	97853126	123	76298											
FLG	2312	broad.mit.edu	37	chr1	152283170	152283170	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcttctgaatgtccctcacTgttagtgacctgactaccac	7	13	3	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:152283170T>G	uc001ezu.1	-	3	4228	c.4192A>C	c.(4192-4194)AGT>CGT	p.S1398R	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1398	Ser-rich.|Filaggrin 8.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCCTCACTGTTAGTGACC	0.567									Ichthyosis				G	152283170	T	G	152283170	3	3	131	1	0	0	0	0	1	0	0	0	5922	1580	55	5	7997	5	FLG	1	152283170	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	885675	152283170	96967451	124	76299											
FLG	2312	broad.mit.edu	37	chr1	152285339	152285339	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcctgattttctggagctgtCtgcagagtgcccatgaccag	12	11	2	3	rs140188504		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:152285339C>A	uc001ezu.1	-	3	2059	c.2023G>T	c.(2023-2025)GAC>TAC	p.D675Y	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	675	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGAGCTGTCTGCAGAGTGC	0.527									Ichthyosis				A	152285339	C	A	152285339	3	1	131	1	0	0	0	0	1	0	0	0	5922	913	32	5	10166	5	FLG	1	152285339	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2169	152285339	96965282	125	76300											
CRCT1	54544	broad.mit.edu	37	chr1	152488062	152488062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttcccaaggagacgccGccgacagcggagtagtggtt	14	12	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:152488062G>A	uc001ezz.2	+	2	276	c.203G>A	c.(202-204)CGC>CAC	p.R68H		NM_019060	NP_061933	Q9UGL9	CRCT1_HUMAN	cysteine-rich C-terminal 1	68	Cys-rich.										0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGAGACGCCGCCGACAGCGG	0.652													A	152488062	G	A	152488062	3	1	131	1	0	0	0	0	1	0	0	0	3853	1087	38	1	205	1	CRCT1	1	152488062	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	202723	152488062	96762559	126	76301											
ILF2	3608	broad.mit.edu	37	chr1	153640491	153640491	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccacttcaaatgtcccTggagccacaatcagattatc	5	14	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:153640491T>C	uc001fcr.2	-	5	357	c.276A>G	c.(274-276)CCA>CCG	p.P92P	ILF2_uc010pdy.1_Silent_p.P54P|ILF2_uc009wok.2_Silent_p.P92P|ILF2_uc009wol.1_Silent_p.P54P	NM_004515	NP_004506	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	92					immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAATGTCCCTGGAGCCACAA	0.348													C	153640491	T	C	153640491	2	2	131	1	0	0	0	0	0	0	0	1	7711	1567	55	3		3	ILF2	1	153640491	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1152429	153640491	95610130	127	76302											
SLC27A3	11000	broad.mit.edu	37	chr1	153751860	153751860	+	Frame_Shift_Del	DEL	C	C	-													tggcagccctagttctgcgtCccccccacgctttggacctt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:153751859_153751859TC>T	uc001fcz.3	+	8	1991	c.1926_1926TC>T	c.(1924-1926)cgtfs	p.R642fs	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	642					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TAGTTCTGCGTCCCCCCCACG	0.622													-	153751860	C	-	153751860	7	5	131	1	0	1	0	1	0	0	0	0	14527	855	30	0	1961	0	SLC27A3	1	153751860	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	111369	153751860	95498761	128	76303											
DENND4B	9909	broad.mit.edu	37	chr1	153906026	153906026	+	Frame_Shift_Del	DEL	G	G	-													ccatggggctgcggcgggctGggggtggcaggtcaggaggc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:153906026delG	uc001fdd.1	-	20	3664	c.3263delC	c.(3262-3264)CCAfs	p.P1088fs	uc001fdc.1_Intron	NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1088										ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCGGCGGGCTGGGGGTGGCAG	0.692													-	153906026	G	-	153906026	7	5	131	1	0	1	0	1	0	0	0	0	4434	1348	47	0	1263	0	DENND4B	1	153906026	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	154166	153906026	95344595	129	76304											
ATP8B2	57198	broad.mit.edu	37	chr1	154302929	154302929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgagaaattccagtatgCggtaagcgactctagaccac	9	10	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:154302929C>T	uc001fey.1	+	2	335	c.146C>T	c.(145-147)GCG>GTG	p.A49V	ATP8B2_uc001few.2_Missense_Mutation_p.A30V|ATP8B2_uc001fex.2_Missense_Mutation_p.A63V	NM_001005855	NP_001005855	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform b	49	Cytoplasmic (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTCCAGTATGCGGTAAGCGAC	0.527													T	154302929	C	T	154302929	3	4	131	1	0	0	0	0	1	0	0	0	1195	782	27	1	198	1	ATP8B2	1	154302929	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	396903	154302929	94947692	130	76305											
SHE	126669	broad.mit.edu	37	chr1	154461771	154461771	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgtctgcgggttcacaGggactgtcaagcagctggag	14	12	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:154461771G>T	uc001ffb.2	-	3	867	c.780C>A	c.(778-780)CCC>CCA	p.P260P	SHE_uc001ffc.2_RNA	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	260										breast(3)|ovary(2)|central_nervous_system(1)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CGGGTTCACAGGGACTGTCAA	0.527													T	154461771	G	T	154461771	2	4	131	1	0	0	0	0	0	0	0	1	14276	987	35	5		5	SHE	1	154461771	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	158842	154461771	94788850	131	76306											
UBE2Q1	55585	broad.mit.edu	37	chr1	154524458	154524459	+	Splice_Site	INS	-	-	GA													tcaaagggaaagttatcctgINSagagagagagagacgacaat							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:154524457_154524458T>TGA	uc001fff.1	-	9	1058	c.967_splice	c.e9-1	p.D323_splice		NM_017582	NP_060052	Q7Z7E8	UB2Q1_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2Q family member 1 (UBE2Q1), mRNA.	323							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAAGTTATCCTGAGAGAGAGAG	0.574													GA	154524459	-	GA	154524458	8	5	131	1	0	1	1	0	0	0	1	0	16866	1305	45	0		0	UBE2Q1	1	154524458	Splice_Site	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	62687	154524458	94726163	132	76307											
CHRNB2	1141	broad.mit.edu	37	chr1	154544057	154544057	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcatcacctcgctagccaTccttgtcttctacctgccat	5	17	4	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:154544057T>C	uc001ffg.2	+	5	1022	c.758T>C	c.(757-759)ATC>ACC	p.I253T		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	253	Helical; (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	TCGCTAGCCATCCTTGTCTTC	0.542													C	154544057	T	C	154544057	3	2	131	1	0	0	0	0	1	0	0	0	3391	1435	50	3	776	3	CHRNB2	1	154544057	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	19599	154544057	94706564	133	76308											
DCST2	127579	broad.mit.edu	37	chr1	155006137	155006137	+	Frame_Shift_Del	DEL	C	C	-													tcgccatgctaggctcctctCcccccaaggggtgcacaaca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:155006137delC	uc001fgm.2	-	1	121	c.41delG	c.(40-42)GGAfs	p.G14fs	DCST2_uc009wpb.2_RNA|DCST1_uc010per.1_5'Flank|DCST1_uc001fgn.1_5'Flank|DCST1_uc010pes.1_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	14	Cytoplasmic (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)			AGGCTCCTCTCCCCCCAAGGG	0.587													-	155006137	C	-	155006137	7	5	131	1	0	1	0	1	0	0	0	0	4303	855	30	0	2340	0	DCST2	1	155006137	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	462080	155006137	94244484	134	76309											
DCST1	149095	broad.mit.edu	37	chr1	155015874	155015874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaacacaagctgggagcGcgtgagcaccgaggtgcggg	17	11	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:155015874G>A	uc001fgn.1	+	10	1157	c.1061G>A	c.(1060-1062)CGC>CAC	p.R354H	DCST1_uc010per.1_Missense_Mutation_p.R379H|DCST1_uc010pes.1_Missense_Mutation_p.R329H	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1 isoform 1	354	Extracellular (Potential).					integral to membrane	zinc ion binding			ovary(1)|skin(1)	2	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGCTGGGAGCGCGTGAGCACC	0.667													A	155015874	G	A	155015874	3	1	131	1	0	0	0	0	1	0	0	0	4302	1087	38	1	1095	1	DCST1	1	155015874	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	9737	155015874	94234747	135	76310											
EFNA4	1945	broad.mit.edu	37	chr1	155041446	155041446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgctgcttctgattcttcGtcttctgcgaattctgtgag	9	10	5	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:155041446G>A	uc001fhd.2	+	4	674	c.587G>A	c.(586-588)CGT>CAT	p.R196H	EFNA3_uc010pew.1_Intron|EFNA4_uc001fhc.2_Intron|EFNA4_uc001fhe.2_Intron	NM_005227	NP_005218	P52798	EFNA4_HUMAN	ephrin A4 isoform a	196					cell-cell signaling	anchored to membrane|extracellular region|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity				0	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CTGATTCTTCGTCTTCTGCGA	0.597													A	155041446	G	A	155041446	3	1	131	1	0	0	0	0	1	0	0	0	4953	1145	40	1	601	1	EFNA4	1	155041446	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	25572	155041446	94209175	136	76311											
MUC1	4582	broad.mit.edu	37	chr1	155160514	155160514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattggagaggcccagaaaaCccccttgtttataaatctgc	8	10	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:155160514C>T	uc010pfj.1	-	3	945	c.539G>A	c.(538-540)GGT>GAT	p.G180D	RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_Missense_Mutation_p.G10D|MUC1_uc001fhz.2_Missense_Mutation_p.G10D|MUC1_uc010pfb.1_Missense_Mutation_p.G10D|MUC1_uc010pfc.1_RNA|MUC1_uc009wph.2_Missense_Mutation_p.G10D|MUC1_uc010pfd.1_Missense_Mutation_p.V78I|MUC1_uc010pfe.1_Intron|MUC1_uc010pff.1_Missense_Mutation_p.V134I|MUC1_uc009wpi.2_Missense_Mutation_p.G10D|MUC1_uc010pfg.1_RNA|MUC1_uc010pfh.1_Missense_Mutation_p.G156D|MUC1_uc010pfi.1_Missense_Mutation_p.G156D|MUC1_uc010pfk.1_RNA|MUC1_uc010pfl.1_RNA|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Missense_Mutation_p.V34I|MUC1_uc001fip.2_Missense_Mutation_p.V60I|MUC1_uc009wqg.2_Intron|MUC1_uc009wpo.2_Missense_Mutation_p.G47D|MUC1_uc009wps.2_Missense_Mutation_p.G68D|MUC1_uc009wpt.2_Missense_Mutation_p.G71D|MUC1_uc001fic.2_Missense_Mutation_p.G59D|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Missense_Mutation_p.G73D|MUC1_uc009wpv.2_Missense_Mutation_p.V60I|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Missense_Mutation_p.V60I|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Intron|MUC1_uc001fid.2_Intron|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Missense_Mutation_p.G94D|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Missense_Mutation_p.G10D|MUC1_uc001fiq.2_Missense_Mutation_p.G10D|MUC1_uc009wpz.2_Missense_Mutation_p.G112D|MUC1_uc010pfn.1_Missense_Mutation_p.G85D|MUC1_uc009wqa.2_Missense_Mutation_p.G168D|MUC1_uc010pfo.1_Missense_Mutation_p.V78I|MUC1_uc010pfp.1_Missense_Mutation_p.V78I|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Missense_Mutation_p.G85D|MUC1_uc009wqc.2_Missense_Mutation_p.G82D|MUC1_uc009wqd.2_Missense_Mutation_p.G106D|MUC1_uc009wqb.2_Missense_Mutation_p.G10D|MUC1_uc010pfq.1_Missense_Mutation_p.G82D|MUC1_uc010pfr.1_Missense_Mutation_p.V88I|MUC1_uc001fit.2_Missense_Mutation_p.G10D|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Missense_Mutation_p.V79I|MUC1_uc009wpm.2_Missense_Mutation_p.G103D|MUC1_uc009wpp.2_Missense_Mutation_p.V79I|MUC1_uc010pfs.1_RNA|MUC1_uc001fik.2_Missense_Mutation_p.G103D|MUC1_uc001fio.2_Missense_Mutation_p.V79I|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Missense_Mutation_p.G94D|MUC1_uc001fis.1_Intron			P15941	MUC1_HUMAN	SubName: Full=Mucin 1, cell surface associated;	1085	Extracellular (Potential).|SEA.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCCAGAAAACCCCCTTGTTT	0.527			T	IGH@	B-NHL								T	155160514	C	T	155160514	3	4	131	1	0	0	0	0	1	0	0	0	9970	507	18	4	533	4	MUC1	1	155160514	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	119068	155160514	94090107	137	76312											
THBS3	7059	broad.mit.edu	37	chr1	155172646	155172646	+	Frame_Shift_Del	DEL	G	G	-													tgccgttgccctgcaggccaGgggggcagggcccacagcgg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:155172646delG	uc001fix.2	-	8	937	c.914delC	c.(913-915)CCTfs	p.P305fs	RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Frame_Shift_Del_p.P296fs|THBS3_uc001fiz.2_Frame_Shift_Del_p.P305fs|THBS3_uc001fiy.2_5'UTR|THBS3_uc010pfu.1_Frame_Shift_Del_p.P185fs|THBS3_uc010pfv.1_RNA|THBS3_uc001fja.2_RNA	NM_007112	NP_009043	P49746	TSP3_HUMAN	thrombospondin 3 precursor	305	EGF-like 1.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(3)|ovary(2)	5	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGCAGGCCAGGGGGGCAGGG	0.617													-	155172646	G	-	155172646	7	5	131	1	0	1	0	1	0	0	0	0	15852	1000	35	0	2020	0	THBS3	1	155172646	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	12132	155172646	94077975	138	76313											
FAM189B	10712	broad.mit.edu	37	chr1	155224231	155224232	+	Frame_Shift_Ins	INS	-	-	C													ccaggacacaatgccaaccaINSccccggagaacgccagctgg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:155224231_155224232insC	uc001fjm.2	-	2	847_848	c.241_242insG	c.(241-243)GTGfs	p.V81fs	RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_5'Flank|FAM189B_uc001fjn.2_Intron|FAM189B_uc001fjo.2_Intron|FAM189B_uc001fjp.2_Intron|FAM189B_uc001fjq.1_Frame_Shift_Ins_p.V81fs	NM_006589	NP_006580	P81408	F189B_HUMAN	hypothetical protein LOC10712 isoform a	81	Helical; (Potential).					integral to membrane	WW domain binding			ovary(1)|breast(1)	2						AATGCCAACCACCCCGGAGAAC	0.653													C	155224232	-	C	155224231	7	5	131	1	0	1	1	0	0	0	0	0	5517	159	6	0	1808	0	FAM189B	1	155224231	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	51585	155224231	94026390	139	76314	345	2									
FAM189B	10712	broad.mit.edu	37	chr1	155224232	155224233	+	Frame_Shift_Ins	INS	-	-	C													caggacacaatgccaaccacINScccggagaacgccagctggg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:155224231_155224232A>AC	uc001fjm.3	-	1	847_848	c.241_242T>GT	c.(241-243)gtgfs	p.V81fs	FAM189B_uc009wql.3_5'Flank|FAM189B_uc001fjn.3_Intron|FAM189B_uc001fjo.3_Intron|FAM189B_uc001fjp.3_Intron|FAM189B_uc001fjq.1_Frame_Shift_Ins_p.V81fs	NM_006589	NP_006580	P81408	F189B_HUMAN	Homo sapiens family with sequence similarity 189, member B (FAM189B), transcript variant 1, mRNA.	81						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						AATGCCAACCACCCCGGAGAAC	0.653													C	155224233	-	C	155224232	7	5	131	1	0	1	1	0	0	0	0	0	5517	507	18	0	1809	0	FAM189B	1	155224232	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	155224232	94026389	140	76315	345	2									
PKLR	5313	broad.mit.edu	37	chr1	155265256	155265256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatcccagtgcggatctccGgtcccttggtgtccagggcg	15	13	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:155265256G>A	uc001fkb.3	-	4	518	c.479C>T	c.(478-480)CCG>CTG	p.P160L	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.P129L|PKLR_uc010pga.1_Missense_Mutation_p.P96L	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	160					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GCGGATCTCCGGTCCCTTGGT	0.692													A	155265256	G	A	155265256	3	1	131	1	0	0	0	0	1	0	0	0	11976	1116	39	1	1277	1	PKLR	1	155265256	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	41024	155265256	93985365	141	76316											
C1orf104	284618	broad.mit.edu	37	chr1	155291076	155291076	+	Frame_Shift_Del	DEL	C	C	-													aaactctgcgtattgccccaCccccatcctccacctccttt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:155291076delC	uc001fki.2	-	2	481	c.204delG	c.(202-204)GGGfs	p.G68fs	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_RNA|RUSC1_uc001fkj.2_Intron|RUSC1_uc001fkk.2_Intron|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank	NM_001039517	NP_001034606	Q66K80	RUAS1_HUMAN	hypothetical protein LOC284618	68	Poly-Gly.										0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.32e-10)|all cancers(21;3.51e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TATTGCCCCACCCCCATCCTC	0.612													-	155291076	C	-	155291076	7	5	131	1	0	1	0	1	0	0	0	0	1978	494	18	0	510	0	C1orf104	1	155291076	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	25820	155291076	93959545	142	76317											
RUSC1	23623	broad.mit.edu	37	chr1	155296779	155296779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccgatgggcaccggggcGtcatgggactgcagctgaag	16	11	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:155296779G>A	uc001fkj.2	+	8	2499	c.2270G>A	c.(2269-2271)CGT>CAT	p.R757H	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fki.2_5'Flank|RUSC1_uc001fkk.2_Missense_Mutation_p.R651H|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_Missense_Mutation_p.R288H|RUSC1_uc001fkl.2_Missense_Mutation_p.R347H|RUSC1_uc001fkp.2_Missense_Mutation_p.R288H|RUSC1_uc001fkq.2_Missense_Mutation_p.R182H|RUSC1_uc010pgb.1_Missense_Mutation_p.R255H|RUSC1_uc009wqp.1_Missense_Mutation_p.R282H|RUSC1_uc001fkn.2_Missense_Mutation_p.R66H|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Missense_Mutation_p.R288H|RUSC1_uc001fks.2_Missense_Mutation_p.R66H	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	757						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GCACCGGGGCGTCATGGGACT	0.632													A	155296779	G	A	155296779	3	1	131	1	0	0	0	0	1	0	0	0	13750	1145	40	1	2427	1	RUSC1	1	155296779	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	5703	155296779	93953842	143	76318											
RUSC1	23623	broad.mit.edu	37	chr1	155296883	155296883	+	Frame_Shift_Del	DEL	G	G	-													gaagactatttggagtgcctGggggccccgcagaaaatgag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:155296883delG	uc001fkj.2	+	8	2603	c.2374delG	c.(2374-2376)GGGfs	p.G792fs	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fki.2_5'Flank|RUSC1_uc001fkk.2_Frame_Shift_Del_p.G686fs|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_Frame_Shift_Del_p.G323fs|RUSC1_uc001fkl.2_Frame_Shift_Del_p.G382fs|RUSC1_uc001fkp.2_Frame_Shift_Del_p.G323fs|RUSC1_uc001fkq.2_Frame_Shift_Del_p.G217fs|RUSC1_uc010pgb.1_Frame_Shift_Del_p.G290fs|RUSC1_uc009wqp.1_Frame_Shift_Del_p.G317fs|RUSC1_uc001fkn.2_Frame_Shift_Del_p.G101fs|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Frame_Shift_Del_p.G323fs|RUSC1_uc001fks.2_Frame_Shift_Del_p.G101fs	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	792						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TGGAGTGCCTGGGGGCCCCGC	0.557													-	155296883	G	-	155296883	7	5	131	1	0	1	0	1	0	0	0	0	13750	1348	47	0	2531	0	RUSC1	1	155296883	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	104	155296883	93953738	144	76319											
ASH1L	55870	broad.mit.edu	37	chr1	155448107	155448107	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacagcatcctttccaaaTctatagcgcttcaaagattc	4	13	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:155448107T>G	uc009wqq.2	-	3	5034	c.4554A>C	c.(4552-4554)AGA>AGC	p.R1518S	ASH1L_uc001fkt.2_Missense_Mutation_p.R1518S|ASH1L_uc009wqr.1_Missense_Mutation_p.R1518S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1518					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTTTCCAAATCTATAGCGCT	0.453													G	155448107	T	G	155448107	3	3	131	1	0	0	0	0	1	0	0	0	1041	1432	50	5	4444	5	ASH1L	1	155448107	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	151224	155448107	93802514	145	76320											
SEMA4A	64218	broad.mit.edu	37	chr1	156132858	156132858	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctggactacttataggggCcctgagaccaacccccggcc	11	16	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:156132858C>T	uc001fnl.2	+	10	1211	c.1107C>T	c.(1105-1107)GGC>GGT	p.G369G	SEMA4A_uc009wrq.2_Silent_p.G369G|SEMA4A_uc001fnm.2_Silent_p.G369G|SEMA4A_uc001fnn.2_Silent_p.G237G|SEMA4A_uc001fno.2_Silent_p.G369G	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	369	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					CTTATAGGGGCCCTGAGACCA	0.478													T	156132858	C	T	156132858	2	4	131	1	0	0	0	0	0	0	0	1	14031	726	26	2		2	SEMA4A	1	156132858	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	684751	156132858	93117763	146	76321											
RHBG	57127	broad.mit.edu	37	chr1	156347148	156347148	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggcttcctcatggtcttcCtgcagcgttacggcttcagc	10	13	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:156347148C>A	uc010pho.1	+	2	282	c.244C>A	c.(244-246)CTG>ATG	p.L82M	RHBG_uc010phm.1_Intron|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_Missense_Mutation_p.L13M|RHBG_uc009wrz.2_Missense_Mutation_p.L13M|RHBG_uc001for.2_Missense_Mutation_p.L52M	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Rhesus blood group, B glycoprotein	82	Helical; (Potential).				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			ovary(2)	2	Hepatocellular(266;0.158)					CATGGTCTTCCTGCAGCGTTA	0.632													A	156347148	C	A	156347148	3	1	131	1	0	0	0	0	1	0	0	0	13324	680	24	5	250	5	RHBG	1	156347148	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	214290	156347148	92903473	147	76322											
CD1C	911	broad.mit.edu	37	chr1	158262642	158262642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacacagcagtctaggaggCcaggacatcatcctctactg	10	12	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:158262642C>T	uc001fru.2	+	4	1159	c.867C>T	c.(865-867)GGC>GGT	p.G289G	CD1C_uc001frv.2_Silent_p.G92G	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	289	Extracellular (Potential).|Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					GTCTAGGAGGCCAGGACATCA	0.522													T	158262642	C	T	158262642	2	4	131	1	0	0	0	0	0	0	0	1	2976	726	26	2		2	CD1C	1	158262642	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1915494	158262642	90987979	148	76323											
OR6K2	81448	broad.mit.edu	37	chr1	158670411	158670411	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagcggagaagataaacTcctgaatggtggttcgattg	14	5	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:158670411T>C	uc001fsu.1	-	1	32	c.32A>G	c.(31-33)GAG>GGG	p.E11G		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	11	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					GAAGATAAACTCCTGAATGGT	0.448													C	158670411	T	C	158670411	3	2	131	1	0	0	0	0	1	0	0	0	11202	1551	54	3	946	3	OR6K2	1	158670411	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	407769	158670411	90580210	149	76324											
CRP	1401	broad.mit.edu	37	chr1	159683558	159683558	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcttgcttctgcccccacAgtgtatcccttcttcagact	6	15	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:159683558A>C	uc001ftw.2	-	2	536	c.432T>G	c.(430-432)ACT>ACG	p.T144T	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_RNA	NM_000567	NP_000558	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related precursor	144	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CTGCCCCCACAGTGTATCCCT	0.542													C	159683558	A	C	159683558	2	2	131	1	0	0	0	0	0	0	0	1	3895	175	7	5		5	CRP	1	159683558	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1013147	159683558	89567063	150	76325											
ATP1A2	477	broad.mit.edu	37	chr1	160098557	160098557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcggacaagacgggcaCcctcacccagaaccgcatga	10	16	1	3	rs28934002		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:160098557C>T	uc001fvc.2	+	9	1265	c.1133C>T	c.(1132-1134)ACC>ATC	p.T378I	ATP1A2_uc001fvb.2_Missense_Mutation_p.T378I|ATP1A2_uc010piz.1_Missense_Mutation_p.T223I|ATP1A2_uc001fvd.2_Missense_Mutation_p.T114I|ATP1A2_uc009wtg.1_Missense_Mutation_p.T66I	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	378	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AAGACGGGCACCCTCACCCAG	0.602													T	160098557	C	T	160098557	3	4	131	1	0	0	0	0	1	0	0	0	1129	507	18	4	1167	4	ATP1A2	1	160098557	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	414999	160098557	89152064	151	76326											
COPA	1314	broad.mit.edu	37	chr1	160275305	160275305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaggccccactcttgacacGaatgttctcatgaatgttac	7	13	2	2	rs144155845		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:160275305G>A	uc009wti.2	-	17	1979	c.1585C>T	c.(1585-1587)CGT>TGT	p.R529C	COPA_uc001fvv.3_Missense_Mutation_p.R538C|COPA_uc009wtj.1_Missense_Mutation_p.R475C	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	529					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCTTGACACGAATGTTCTCA	0.443													A	160275305	G	A	160275305	3	1	131	1	0	0	0	0	1	0	0	0	3727	1058	37	1	2157	1	COPA	1	160275305	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	176748	160275305	88975316	152	76327											
USP21	27005	broad.mit.edu	37	chr1	161134660	161134660	+	Frame_Shift_Del	DEL	A	A	-													ctgcctcccgaggctccatcAaaaaaagttcagtaggtgta							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:161134659_161134659CA>C	uc010pkc.2	+	11	1796	c.1419_1419CA>C	c.(1417-1419)atcfs	p.I473fs	USP21_uc010pkd.2_Frame_Shift_Del_p.I473fs|USP21_uc021pbv.1_Non-coding_Transcript|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc001fyi.2_5'Flank|PPOX_uc010pkh.1_5'Flank	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	473					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GAGGCTCCATCAAAAAAAGTT	0.517													-	161134660	A	-	161134660	7	5	131	1	0	1	0	1	0	0	0	0	17050	131	5	0	1458	0	USP21	1	161134660	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	859355	161134660	88115961	153	76328											
FCRLA	84824	broad.mit.edu	37	chr1	161682964	161682964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgaggaggcccctgggCctctgcctccgccgccaacc	11	20	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:161682964C>T	uc001gbe.2	+	6	1185	c.943C>T	c.(943-945)CCT>TCT	p.P315S	FCRLA_uc001gbd.2_Missense_Mutation_p.P309S|FCRLA_uc001gbf.2_Missense_Mutation_p.P220S|FCRLA_uc001gbg.2_Missense_Mutation_p.P169S|FCRLA_uc009wuo.2_Missense_Mutation_p.P175S|FCRLA_uc009wup.2_Missense_Mutation_p.P125S|FCRLA_uc009wuq.2_Missense_Mutation_p.P74S	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	292	Pro-rich.				cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GGCCCCTGGGCCTCTGCCTCC	0.567													T	161682964	C	T	161682964	3	4	131	1	0	0	0	0	1	0	0	0	5800	739	26	2	965	2	FCRLA	1	161682964	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	548304	161682964	87567657	154	76329											
TMCO1	54499	broad.mit.edu	37	chr1	165737430	165737430	+	Frame_Shift_Del	DEL	T	T	-													aatgtgttgccatactcacaTtttttactctgtttttccac					rs146830030		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:165737430delT	uc001gdj.3	-	2	296	c.147delA	c.(145-147)AAAfs	p.K49fs	TMCO1_uc001gdl.3_5'UTR|TMCO1_uc001gdm.3_5'UTR|TMCO1_uc001gdk.3_Frame_Shift_Del_p.K37fs|TMCO1_uc001gdn.3_RNA|uc001gdo.2_5'Flank	NM_019026	NP_061899	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	49	Potential.					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)	1	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CATACTCACATTTTTTACTCT	0.363													-	165737430	T	-	165737430	7	5	131	1	0	1	0	1	0	0	0	0	15992	1507	52	0	443	0	TMCO1	1	165737430	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	4054466	165737430	83513191	155	76330											
FAM78B	149297	broad.mit.edu	37	chr1	166135339	166135339	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accacgcgggcggaggctttGaagtagggggtcttgtagcg	18	8	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:166135339G>A	uc001gdr.2	-	2	737	c.147C>T	c.(145-147)TTC>TTT	p.F49F	FAM78B_uc010plc.1_RNA	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	hypothetical protein LOC149297	49										central_nervous_system(1)|skin(1)	2	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CGGAGGCTTTGAAGTAGGGGG	0.622													A	166135339	G	A	166135339	2	1	131	1	0	0	0	0	0	0	0	1	5627	1281	45	4		4	FAM78B	1	166135339	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	397909	166135339	83115282	156	76331											
ADCY10	55811	broad.mit.edu	37	chr1	167839514	167839514	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgattcttaccttgggCcaggtactcaattttcataa	7	10	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:167839514C>A	uc001ger.2	-	14	1895	c.1597G>T	c.(1597-1599)GCC>TCC	p.A533S	ADCY10_uc009wvk.2_Missense_Mutation_p.A441S|ADCY10_uc010plj.1_Missense_Mutation_p.A380S|ADCY10_uc009wvl.2_Missense_Mutation_p.A532S	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	533					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						TTACCTTGGGCCAGGTACTCA	0.378													A	167839514	C	A	167839514	3	1	131	1	0	0	0	0	1	0	0	0	293	739	26	5	3315	5	ADCY10	1	167839514	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1704175	167839514	81411107	157	76332											
ATP1B1	481	broad.mit.edu	37	chr1	169076064	169076064	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcagctgctgacccgccatCgccatggcccgcgggaaagc	14	16	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:169076064C>T	uc001gfs.1	+	1		c.118C>T						P05026	AT1B1_HUMAN	Synthetic construct DNA, clone: pF1KB8186, Homo sapiens ATP1B1 gene for ATPase, Na+/K+ transporting, beta 1 polypeptide, without stop codon, in Flexi system.						ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	all_hematologic(923;0.208)					GACCCGCCATCGCCATGGCCC	0.672													T	169076064	C	T	169076064	1	4	131	0	1	0	0	0	0	0	0	0	1132	899	31	1		1	ATP1B1	1	169076064	RNA	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1236550	169076064	80174557	158	76333											
ATP1B1	481	broad.mit.edu	37	chr1	169100834	169100834	+	RNA	DEL	A	A	-													cactagccatttaataagttAaaaaaagatacaaaaacaaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:169100834delA	uc001gfs.1	+	6		c.1078delA						P05026	AT1B1_HUMAN	Synthetic construct DNA, clone: pF1KB8186, Homo sapiens ATP1B1 gene for ATPase, Na+/K+ transporting, beta 1 polypeptide, without stop codon, in Flexi system.						ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	all_hematologic(923;0.208)					TTAATAAGTTAAAAAAAGATA	0.338													-	169100834	A	-	169100834	6	5	131	0	1	1	0	1	0	0	0	0	1132	377	13	0		0	ATP1B1	1	169100834	RNA	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	24770	169100834	80149787	159	76334											
SLC9A11	284525	broad.mit.edu	37	chr1	173551149	173551150	+	Splice_Site	INS	-	-	A													caatgcctacatgtaaatctINSaaaaaaaagaaagaaaaaat							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:173551149_173551150insA	uc001giz.2	-	7	1064	c.641_splice	c.e7-1	p.D214_splice	SLC9A11_uc010pmq.1_Splice_Site	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11						sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						CATGTAAATCTAAAAAAAAGAA	0.327													A	173551150	-	A	173551149	8	5	131	1	0	1	1	0	0	0	1	0	14711	1536	53	0	2823	0	SLC9A11	1	173551149	Splice_Site	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	4450315	173551149	75699472	160	76335											
SEC16B	89866	broad.mit.edu	37	chr1	177937055	177937056	+	Frame_Shift_Del	DEL	TT	TT	-													gaaaccctcggtctggatccTttgagggtgctgtggccttc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:177937055_177937056delTT	uc001gli.1	-	2	151_152	c.61_62delAA	c.(61-63)AAGfs	p.K21fs	SEC16B_uc001glk.1_5'UTR|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001glj.1_Frame_Shift_Del_p.K21fs|SEC16B_uc001gll.3_Frame_Shift_Del_p.K21fs	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	leucine zipper transcription regulator 2	21					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				ovary(3)|central_nervous_system(1)	4						GTCTGGATCCTTTGAGGGTGCT	0.55													-	177937056	TT	-	177937055	7	5	131	1	0	1	0	1	0	0	0	0	13987	1609	56	0	3220	0	SEC16B	1	177937055	Frame_Shift_Del	DEL	TT	TCGA-BR-A4QL-01A-31D-A25D-08	4385906	177937055	71313566	161	76336											
SOAT1	6646	broad.mit.edu	37	chr1	179304653	179304653	+	Frame_Shift_Del	DEL	T	T	-													aattctaggaattgaagccaTtttttatgaaggaagttggc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:179304653delT	uc001gml.2	+	4	253	c.190delT	c.(190-192)TTTfs	p.F64fs	SOAT1_uc010pni.1_5'UTR|SOAT1_uc001gmm.2_Frame_Shift_Del_p.F6fs|SOAT1_uc010pnj.1_5'UTR|SOAT1_uc010pnk.1_5'UTR	NM_003101	NP_003092	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	64					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|skin(1)	2					Ezetimibe(DB00973)|Hesperetin(DB01094)	ATTGAAGCCATTTTTTATGAA	0.373													-	179304653	T	-	179304653	7	5	131	1	0	1	0	1	0	0	0	0	14910	1493	52	0	200	0	SOAT1	1	179304653	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	1367598	179304653	69945968	162	76337											
CEP350	9857	broad.mit.edu	37	chr1	179965804	179965804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taactggatgataggcagtcGagaagaacggaatatacgga	13	5	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:179965804G>A	uc001gnt.2	+	6	895	c.512G>A	c.(511-513)CGA>CAA	p.R171Q	CEP350_uc001gnr.1_Missense_Mutation_p.R145Q|CEP350_uc009wxl.2_Missense_Mutation_p.R170Q|CEP350_uc001gnu.2_Missense_Mutation_p.R5Q	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	171						centrosome|nucleus|spindle				ovary(4)	4						ATAGGCAGTCGAGAAGAACGG	0.408													A	179965804	G	A	179965804	3	1	131	1	0	0	0	0	1	0	0	0	3254	1058	37	1	530	1	CEP350	1	179965804	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	661151	179965804	69284817	163	76338											
LHX4	89884	broad.mit.edu	37	chr1	180243343	180243343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaaattctctcagaacttGgccacaccaataggatttat	5	10	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:180243343G>A	uc001goe.1	+	6	1025	c.802G>A	c.(802-804)GGC>AGC	p.G268S	uc001gof.1_Intron	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						CTCAGAACTTGGCCACACCAA	0.493													A	180243343	G	A	180243343	3	1	131	1	0	0	0	0	1	0	0	0	8773	1348	47	4	824	4	LHX4	1	180243343	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	277539	180243343	69007278	164	76339											
CACNA1E	777	broad.mit.edu	37	chr1	181706764	181706764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggcggcagaggaccccGtcctgaccaactcggagcgc	13	17	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:181706764G>A	uc001gow.2	+	23	3691	c.3526G>A	c.(3526-3528)GTC>ATC	p.V1176I	CACNA1E_uc009wxs.2_Missense_Mutation_p.V1064I|CACNA1E_uc001gox.1_Missense_Mutation_p.V402I|CACNA1E_uc009wxt.2_Missense_Mutation_p.V402I	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1176	Extracellular (Potential).|III.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						AGAGGACCCCGTCCTGACCAA	0.617													A	181706764	G	A	181706764	3	1	131	1	0	0	0	0	1	0	0	0	2542	1145	40	1	3616	1	CACNA1E	1	181706764	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1463421	181706764	67543857	165	76340											
C1orf14	81626	broad.mit.edu	37	chr1	182922237	182922237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggtgcggaatgagtccGcgggcaccgaggccttggag	18	9	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:182922237G>A	uc001gpu.2	-	1	317	c.32C>T	c.(31-33)GCG>GTG	p.A11V	C1orf14_uc001gpv.2_5'UTR|C1orf14_uc010pnz.1_5'UTR|C1orf14_uc001gpw.2_5'UTR	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	83											0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)		GAATGAGTCCGCGGGCACCGA	0.716													A	182922237	G	A	182922237	3	1	131	1	0	0	0	0	1	0	0	0	2000	1087	38	1	1969	1	C1orf14	1	182922237	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1215473	182922237	66328384	166	76341											
FAM129A	116496	broad.mit.edu	37	chr1	184764591	184764591	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggttgggcctccctctcGctgacttcactttcttcaca	9	14	4	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:184764591G>A	uc001gra.2	-	14	2501	c.2307C>T	c.(2305-2307)AGC>AGT	p.S769S	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	769	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4						CCTCCCTCTCGCTGACTTCAC	0.607													A	184764591	G	A	184764591	2	1	131	1	0	0	0	0	0	0	0	1	5436	1078	38	1		1	FAM129A	1	184764591	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1842354	184764591	64486030	167	76342											
CDC73	79577	broad.mit.edu	37	chr1	193104571	193104571	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttagaaataggtcttcagCgatctactcaaggtatgtct	8	9	5	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:193104571C>T	uc001gtb.2	+	4	601	c.358C>T	c.(358-360)CGA>TGA	p.R120*	MIR1278_hsa-mir-1278|MI0006425_5'Flank	NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	120					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						AGGTCTTCAGCGATCTACTCA	0.333									Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome				T	193104571	C	T	193104571	4	4	131	1	0	0	0	0	0	1	0	0	3085	760	27	1	372	1	CDC73	1	193104571	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	8339980	193104571	56146050	168	76343											
CACNA1S	779	broad.mit.edu	37	chr1	201042762	201042762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctcttctgacttgtctGggagacccctgagttagaaa	9	11	4	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:201042762G>A	uc001gvv.2	-	15	2299	c.2072C>T	c.(2071-2073)CCA>CTA	p.P691L		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	691	Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGACTTGTCTGGGAGACCCCT	0.537													A	201042762	G	A	201042762	3	1	131	1	0	0	0	0	1	0	0	0	2547	1348	47	4	3669	4	CACNA1S	1	201042762	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	7938191	201042762	48207859	169	76344											
CACNA1S	779	broad.mit.edu	37	chr1	201047120	201047120	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggataccgctacacaccacGaagcagtcgaagcggttgaa	11	11	0	1	rs141808465	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:201047120G>A	uc001gvv.2	-	11	1733	c.1506C>T	c.(1504-1506)TTC>TTT	p.F502F		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	502	Helical; Name=S3 of repeat II; (Potential).|II.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TACACACCACGAAGCAGTCGA	0.592													A	201047120	G	A	201047120	2	1	131	1	0	0	0	0	0	0	0	1	2547	1049	37	1		1	CACNA1S	1	201047120	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	4358	201047120	48203501	170	76345											
RNPEP	6051	broad.mit.edu	37	chr1	201966518	201966518	+	Frame_Shift_Del	DEL	C	C	-													cccttgtctgacctttgtcaCcccctgcctgctagctgggg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:201966518delC	uc001gxd.2	+	5	955	c.926delC	c.(925-927)ACCfs	p.T309fs	RNPEP_uc001gxe.2_Frame_Shift_Del_p.T10fs|RNPEP_uc001gxf.2_Frame_Shift_Del_p.T178fs	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase	309					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			upper_aerodigestive_tract(1)	1				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		ACCTTTGTCACCCCCTGCCTG	0.562													-	201966518	C	-	201966518	7	5	131	1	0	1	0	1	0	0	0	0	13509	507	18	0	944	0	RNPEP	1	201966518	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	919398	201966518	47284103	171	76346											
GPR37L1	9283	broad.mit.edu	37	chr1	202096944	202096944	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccacgtggccaccagcaccCtgcccaaggtgaggcccatc	10	18	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:202096944C>A	uc001gxj.2	+	2	769	c.706C>A	c.(706-708)CTG>ATG	p.L236M		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1 precursor	236	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2						CACCAGCACCCTGCCCAAGGT	0.627													A	202096944	C	A	202096944	3	1	131	1	0	0	0	0	1	0	0	0	6692	680	24	5	712	5	GPR37L1	1	202096944	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	130426	202096944	47153677	172	76347											
PTPN7	5778	broad.mit.edu	37	chr1	202128509	202128510	+	Frame_Shift_Ins	INS	-	-	C													aacggctgtgctctggagcgINSccccccatgggcttggacca					rs4073458		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:202128509_202128510insC	uc001gxm.1	-	2	152_153	c.21_22insG	c.(19-24)GGGCGCfs	p.G7fs	PTPN7_uc001gxl.1_Frame_Shift_Ins_p.G46fs|PTPN7_uc001gxn.1_Frame_Shift_Ins_p.G7fs|PTPN7_uc010ppv.1_5'UTR|PTPN7_uc010ppw.1_5'UTR|PTPN7_uc010ppx.1_Frame_Shift_Ins_p.G81fs|PTPN7_uc010ppy.1_RNA|PTPN7_uc001gxo.1_5'Flank	NM_002832	NP_002823	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type	7_8						cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			skin(1)	1						GCTCTGGAGCGCCCCCCATGGG	0.634													C	202128510	-	C	202128509	7	5	131	1	0	1	1	0	0	0	0	0	12793	1087	38	0	1096	0	PTPN7	1	202128509	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	31565	202128509	47122112	173	76348	346	2									
PTPN7	5778	broad.mit.edu	37	chr1	202128510	202128511	+	Frame_Shift_Ins	INS	-	-	C													acggctgtgctctggagcgcINScccccatgggcttggaccat					rs4073458		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:202128509_202128510G>GC	uc001gxn.2	-	1	1117_1118	c.21_22C>GC	c.(19-24)gggcgcfs	p.G7fs	PTPN7_uc001gxl.2_Frame_Shift_Ins_p.G46fs|PTPN7_uc001gxm.2_Frame_Shift_Ins_p.G112fs|PTPN7_uc010ppx.2_Frame_Shift_Ins_p.G81fs|PTPN7_uc010ppw.2_5'UTR|PTPN7_uc010ppy.2_Non-coding_Transcript|PTPN7_uc001gxo.1_5'Flank	NM_002832	NP_002823	P35236	PTN7_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 7 (PTPN7), transcript variant 1, mRNA.	7						cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	p.I8I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						GCTCTGGAGCGCCCCCCATGGG	0.634													C	202128511	-	C	202128510	7	5	131	1	0	1	1	0	0	0	0	0	12793	726	26	0	1097	0	PTPN7	1	202128510	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	202128510	47122111	174	76349	346	2									
PLEKHA6	22874	broad.mit.edu	37	chr1	204210890	204210891	+	Frame_Shift_Ins	INS	-	-	G													gatgtctctgggggtgtccaINSggggcaatgtctggtggggg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:204210890_204210891insG	uc001hau.2	-	16	2541_2542	c.2224_2225insC	c.(2224-2226)CTGfs	p.L742fs	PLEKHA6_uc009xau.1_RNA	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	742										ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGGGGTGTCCAGGGGCAATGTC	0.535													G	204210891	-	G	204210890	7	5	131	1	0	1	1	0	0	0	0	0	12060	188	7	0	949	0	PLEKHA6	1	204210890	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	2082380	204210890	45039731	175	76350	347	2									
PLEKHA6	22874	broad.mit.edu	37	chr1	204210891	204210892	+	Frame_Shift_Ins	INS	-	-	G													atgtctctgggggtgtccagINSgggcaatgtctggtgggggt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:204210890_204210891A>AG	uc001hau.3	-	15	2541_2542	c.2224_2225T>CT	c.(2224-2226)ctgfs	p.L742fs	PLEKHA6_uc009xau.1_Non-coding_Transcript	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	742										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGGGGTGTCCAGGGGCAATGTC	0.535													G	204210892	-	G	204210891	7	5	131	1	0	1	1	0	0	0	0	0	12060	991	35	0	950	0	PLEKHA6	1	204210891	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	204210891	45039730	176	76351	347	2									
PIK3C2B	5287	broad.mit.edu	37	chr1	204438269	204438269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccacagaccccagtaggCgcccctgacccccacctccc	7	22	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:204438269C>T	uc001haw.2	-	3	1141	c.662G>A	c.(661-663)CGC>CAC	p.R221H	PIK3C2B_uc010pqv.1_Missense_Mutation_p.R221H|PIK3C2B_uc001hax.1_Missense_Mutation_p.R221H|PIK3C2B_uc009xbd.1_RNA	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	221	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CCCCAGTAGGCGCCCCTGACC	0.522													T	204438269	C	T	204438269	3	4	131	1	0	0	0	0	1	0	0	0	11910	768	27	1	4370	1	PIK3C2B	1	204438269	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	227378	204438269	44812352	177	76352											
NFASC	23114	broad.mit.edu	37	chr1	204951100	204951100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggctgaaaatgacttcGggaagggccctgagccagag	14	10	0	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:204951100G>A	uc001hbj.2	+	21	2750	c.2422G>A	c.(2422-2424)GGG>AGG	p.G808R	NFASC_uc010pra.1_Missense_Mutation_p.G804R|NFASC_uc001hbi.2_Missense_Mutation_p.G804R|NFASC_uc010prb.1_Missense_Mutation_p.G819R|NFASC_uc010prc.1_Missense_Mutation_p.G375R|NFASC_uc001hbk.1_Missense_Mutation_p.G614R|NFASC_uc001hbl.1_Missense_Mutation_p.G58R	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	808	Extracellular (Potential).|Fibronectin type-III 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAATGACTTCGGGAAGGGCCC	0.602													A	204951100	G	A	204951100	3	1	131	1	0	0	0	0	1	0	0	0	10359	1116	39	1	2580	1	NFASC	1	204951100	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	512831	204951100	44299521	178	76353											
IKBKE	9641	broad.mit.edu	37	chr1	206652330	206652330	+	Frame_Shift_Del	DEL	C	C	-													gcacaagcagaccagtgtggCcccccgacaccaggagtacc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:206652329_206652329GC>G	uc001hdz.2	+	9	1614	c.1036_1036GC>G	c.(1036-1038)gccfs	p.A346fs	IKBKE_uc001hea.2_Frame_Shift_Del_p.A261fs|IKBKE_uc009xbv.2_Frame_Shift_Del_p.A346fs	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	346					DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GACCAGTGTGGCCCCCCGACA	0.637													-	206652330	C	-	206652330	7	5	131	1	0	1	0	1	0	0	0	0	7612	739	26	0	1067	0	IKBKE	1	206652330	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	1701230	206652330	42598291	179	76354											
PIGR	5284	broad.mit.edu	37	chr1	207109149	207109149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaccacagtggggctgcGgggaatcgtggactctggaa	15	10	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:207109149G>A	uc001hez.2	-	5	1244	c.1060C>T	c.(1060-1062)CGC>TGC	p.R354C	PIGR_uc009xbz.2_Missense_Mutation_p.R354C	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	354	Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GTGGGGCTGCGGGGAATCGTG	0.602											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	207109149	G	A	207109149	3	1	131	1	0	0	0	0	1	0	0	0	11897	1116	39	1	1262	1	PIGR	1	207109149	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	456819	207109149	42141472	180	76355											
PLXNA2	5362	broad.mit.edu	37	chr1	208315787	208315788	+	Frame_Shift_Ins	INS	-	-	G													tcgtactggaccccaccatgINSggggggaccgtcggcccgaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:208315786_208315787T>TG	uc001hgz.3	-	3	2151_2152	c.1393_1394A>CA	c.(1393-1395)catfs	p.H465fs		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	465	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.H465fs*57(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACCCCACCATGGGGGGGACCG	0.594													G	208315788	-	G	208315787	7	5	131	1	0	1	1	0	0	0	0	0	12120	1348	47	0	4407	0	PLXNA2	1	208315787	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1206638	208315787	40934834	181	76356											
CAMK1G	57172	broad.mit.edu	37	chr1	209776581	209776581	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcatgaaaacattgtgAccctggaggacatctatgag	10	8	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:209776581A>G	uc001hhd.2	+	4	346	c.244A>G	c.(244-246)ACC>GCC	p.T82A	CAMK1G_uc001hhf.3_Missense_Mutation_p.T82A|CAMK1G_uc001hhe.2_Missense_Mutation_p.T82A	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	82	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		AAACATTGTGACCCTGGAGGA	0.468													G	209776581	A	G	209776581	3	3	131	1	0	0	0	0	1	0	0	0	2598	275	10	3	254	3	CAMK1G	1	209776581	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1460794	209776581	39474040	182	76357											
RCOR3	55758	broad.mit.edu	37	chr1	211486067	211486067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactttgccttccaggtgtcCgcaaatatggtaaagatttt	8	8	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:211486067C>T	uc001hig.2	+	10	1076	c.907C>T	c.(907-909)CGC>TGC	p.R303C	RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.R361C|RCOR3_uc010psw.1_Missense_Mutation_p.R361C|RCOR3_uc001hif.2_Intron|RCOR3_uc009xcz.2_RNA	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d	303	SANT 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TCCAGGTGTCCGCAAATATGG	0.393													T	211486067	C	T	211486067	3	4	131	1	0	0	0	0	1	0	0	0	13184	652	23	1	1123	1	RCOR3	1	211486067	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1709486	211486067	37764554	183	76358											
FLVCR1	28982	broad.mit.edu	37	chr1	213032160	213032160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtactcgctggtcaacgcCtttcagtggatccagtacag	10	12	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:213032160C>T	uc001hjt.2	+	1	564	c.366C>T	c.(364-366)GCC>GCT	p.A122A	LQK1_uc001hjr.3_5'Flank|LQK1_uc001hjs.3_5'Flank	NM_014053	NP_054772	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular	122	Helical; (Potential).				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TGGTCAACGCCTTTCAGTGGA	0.612													T	213032160	C	T	213032160	2	4	131	1	0	0	0	0	0	0	0	1	5945	668	24	4		4	FLVCR1	1	213032160	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1546093	213032160	36218461	184	76359											
EPRS	2058	broad.mit.edu	37	chr1	220195819	220195819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactgaccaaactggctccCttttttcatttcttcccaca	5	14	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:220195819C>T	uc001hly.1	-	9	1255	c.985G>A	c.(985-987)GGG>AGG	p.G329R	EPRS_uc010puf.1_Missense_Mutation_p.G80R|EPRS_uc001hlz.1_Missense_Mutation_p.G329R|EPRS_uc009xdt.1_Missense_Mutation_p.G130R	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	329	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	AACTGGCTCCCTTTTTTCATT	0.348													T	220195819	C	T	220195819	3	4	131	1	0	0	0	0	1	0	0	0	5191	681	24	4	3649	4	EPRS	1	220195819	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	7163659	220195819	29054802	185	76360											
IARS2	55699	broad.mit.edu	37	chr1	220313568	220313568	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgattttggaaaagttgttcGgctgttacggacgttttata	11	4	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:220313568G>C	uc001hmc.2	+	19	2455	c.2351G>C	c.(2350-2352)CGG>CCG	p.R784P	IARS2_uc001hmd.2_Missense_Mutation_p.R120P	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	784					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AAAGTTGTTCGGCTGTTACGG	0.308													C	220313568	G	C	220313568	3	2	131	1	0	0	0	0	1	0	0	0	7474	1116	39	5	2425	5	IARS2	1	220313568	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	117749	220313568	28937053	186	76361											
DUSP10	11221	broad.mit.edu	37	chr1	221912920	221912920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcatatacgtcagattcGcagccttgagggacacaacg	12	10	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:221912920G>A	uc001hmy.1	-	2	349	c.167C>T	c.(166-168)GCG>GTG	p.A56V	DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	56					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)		CGTCAGATTCGCAGCCTTGAG	0.567													A	221912920	G	A	221912920	3	1	131	1	0	0	0	0	1	0	0	0	4810	1087	38	1	1293	1	DUSP10	1	221912920	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1599352	221912920	27337701	187	76362											
HHIPL2	79802	broad.mit.edu	37	chr1	222713534	222713534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctcggtccacagcacaaCgccacatgttcctgatccca	6	19	0	1	rs149049815	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:222713534C>T	uc001hnh.1	-	4	1326	c.1268G>A	c.(1267-1269)CGT>CAT	p.R423H		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	423					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		CACAGCACAACGCCACATGTT	0.597													T	222713534	C	T	222713534	3	4	131	1	0	0	0	0	1	0	0	0	7094	536	19	1	930	1	HHIPL2	1	222713534	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	800614	222713534	26537087	188	76363											
MIA3	375056	broad.mit.edu	37	chr1	222794552	222794552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcacaggcccggattgtcGttttgtgaattttaaaaaag	9	6	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:222794552G>A	uc001hnl.2	+	2	194	c.185G>A	c.(184-186)CGT>CAT	p.R62H		NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	62	SH3.|Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		CCGGATTGTCGTTTTGTGAAT	0.388													A	222794552	G	A	222794552	3	1	131	1	0	0	0	0	1	0	0	0	9565	1145	40	1	191	1	MIA3	1	222794552	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	81018	222794552	26456069	189	76364											
TLR5	7100	broad.mit.edu	37	chr1	223284234	223284234	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actgtattgagtgtccaggtGtttgagcaaagcattctgca	11	7	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:223284234G>C	uc001hnv.1	-	4	2586	c.2140C>G	c.(2140-2142)CAC>GAC	p.H714D	TLR5_uc001hnw.1_Missense_Mutation_p.H714D	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	714	Cytoplasmic (Potential).|TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)		GTGTCCAGGTGTTTGAGCAAA	0.458													C	223284234	G	C	223284234	3	2	131	1	0	0	0	0	1	0	0	0	15951	1377	48	5	440	5	TLR5	1	223284234	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	489682	223284234	25966387	190	76365											
FBXO28	23219	broad.mit.edu	37	chr1	224301881	224301881	+	Frame_Shift_Del	DEL	A	A	-													agaggaaggaggcggcggccAaggcgacggcggttcctctt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:224301881delA	uc001hoh.2	+	1	91	c.50delA	c.(49-51)CAAfs	p.Q17fs	FBXO28_uc009xef.2_Frame_Shift_Del_p.Q17fs|FBXO28_uc010pvc.1_5'UTR	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	F-box protein 28 isoform a	17										ovary(2)|kidney(2)|lung(1)	5	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		GGCGGCGGCCAAGGCGACGGC	0.706													-	224301881	A	-	224301881	7	5	131	1	0	1	0	1	0	0	0	0	5738	130	5	0	52	0	FBXO28	1	224301881	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	1017647	224301881	24948740	191	76366											
SRP9	6726	broad.mit.edu	37	chr1	225971006	225971006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatttttgtttcaggcacGtgtggttctcaaatataggc	10	6	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:225971006G>A	uc001hpg.2	+	2	205	c.77G>A	c.(76-78)CGT>CAT	p.R26H	SRP9_uc001hpf.3_RNA|SRP9_uc001hph.2_Missense_Mutation_p.R26H|SRP9_uc001hpi.3_RNA|SRP9_uc001hpj.1_Intron	NM_003133	NP_003124	P49458	SRP09_HUMAN	signal recognition particle 9kDa isoform 2	26					negative regulation of translational elongation|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle receptor complex|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding				0						TTTCAGGCACGTGTGGTTCTC	0.303													A	225971006	G	A	225971006	3	1	131	1	0	0	0	0	1	0	0	0	15157	1145	40	1	83	1	SRP9	1	225971006	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1669125	225971006	23279615	192	76367											
WNT3A	89780	broad.mit.edu	37	chr1	228210547	228210547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaccagttccgcggccGccggtggaactgcaccaccg	12	18	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:228210547G>A	uc001hrq.1	+	2	329	c.251G>A	c.(250-252)CGC>CAC	p.R84H	WNT3A_uc001hrp.1_Missense_Mutation_p.R84H	NM_033131	NP_149122	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family,	84					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			ovary(1)	1		Prostate(94;0.0405)				TTCCGCGGCCGCCGGTGGAAC	0.637													A	228210547	G	A	228210547	3	1	131	1	0	0	0	0	1	0	0	0	17386	1087	38	1	257	1	WNT3A	1	228210547	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2239541	228210547	21040074	193	76368											
OBSCN	84033	broad.mit.edu	37	chr1	228481946	228481946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctgagcaaggcggcacCggtggagtggaggaaggggc	21	7	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:228481946C>T	uc009xez.1	+	42	11269	c.11225C>T	c.(11224-11226)CCG>CTG	p.P3742L	OBSCN_uc001hsn.2_Missense_Mutation_p.P3742L|OBSCN_uc001hsq.1_Missense_Mutation_p.P998L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3742	Ig-like 38.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AAGGCGGCACCGGTGGAGTGG	0.622													T	228481946	C	T	228481946	3	4	131	1	0	0	0	0	1	0	0	0	10812	652	23	1	11387	1	OBSCN	1	228481946	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	271399	228481946	20768675	194	76369											
ACTA1	58	broad.mit.edu	37	chr1	229568141	229568141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccctcataaatgggcacGttgtgggtgacgccgtcgcc	13	12	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:229568141G>A	uc001htm.2	-	4	597	c.492C>T	c.(490-492)AAC>AAT	p.N164N		NM_001100	NP_001091	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	164					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton				0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	AAATGGGCACGTTGTGGGTGA	0.667													A	229568141	G	A	229568141	2	1	131	1	0	0	0	0	0	0	0	1	191	1136	40	1		1	ACTA1	1	229568141	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1086195	229568141	19682480	195	76370											
NUP133	55746	broad.mit.edu	37	chr1	229599297	229599297	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caacactcatcacctgatcaGcaaactgggtcatgtagcgc	8	13	4	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:229599297G>C	uc001htn.2	-	19	2770	c.2678C>G	c.(2677-2679)GCT>GGT	p.A893G		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	893					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CACCTGATCAGCAAACTGGGT	0.453													C	229599297	G	C	229599297	3	2	131	1	0	0	0	0	1	0	0	0	10754	971	34	5	824	5	NUP133	1	229599297	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	31156	229599297	19651324	196	76371											
PGBD5	79605	broad.mit.edu	37	chr1	230486757	230486757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccagaggctgaatttccGctttttcctctttcgcagct	8	13	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:230486757G>A	uc010pwb.1	-	3	634	c.634C>T	c.(634-636)CGG>TGG	p.R212W	PGBD5_uc001htv.2_Missense_Mutation_p.R311W	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	212						integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CTGAATTTCCGCTTTTTCCTC	0.572													A	230486757	G	A	230486757	3	1	131	1	0	0	0	0	1	0	0	0	11784	1086	38	1	753	1	PGBD5	1	230486757	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	887460	230486757	18763864	197	76372											
PCNXL2	80003	broad.mit.edu	37	chr1	233231580	233231580	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagccacatatgtcaggacGaactgtaacttgtgaagcag	12	8	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:233231580G>A	uc001hvl.2	-	22	4102	c.3867C>T	c.(3865-3867)TTC>TTT	p.F1289F	PCNXL2_uc001hvm.1_RNA|PCNXL2_uc009xfu.2_Intron|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1289						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				ATGTCAGGACGAACTGTAACT	0.443													A	233231580	G	A	233231580	2	1	131	1	0	0	0	0	0	0	0	1	11592	1049	37	1		1	PCNXL2	1	233231580	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2744823	233231580	16019041	198	76373											
TARBP1	6894	broad.mit.edu	37	chr1	234527354	234527354	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatctccgtgcgagagcagcTgctgcctggtgtactcccag	12	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:234527354T>A	uc001hwd.2	-	30	4835	c.4835A>T	c.(4834-4836)CAG>CTG	p.Q1612L		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	1612					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CGAGAGCAGCTGCTGCCTGGT	0.478													A	234527354	T	A	234527354	3	1	131	1	0	0	0	0	1	0	0	0	15552	1580	55	5	34	5	TARBP1	1	234527354	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1295774	234527354	14723267	199	76374											
TARBP1	6894	broad.mit.edu	37	chr1	234563382	234563382	+	Frame_Shift_Del	DEL	T	T	-													caaggataagttcgctataaTttttagcacttgataaagat							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:234563381_234563381AT>A	uc001hwd.3	-	17	3192	c.3192_3192AT>T	c.(3190-3192)aatfs	p.N1064fs		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	1064					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GTTCGCTATAATTTTTAGCAC	0.358													-	234563382	T	-	234563382	7	5	131	1	0	1	0	1	0	0	0	0	15552	1493	52	0	1726	0	TARBP1	1	234563382	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	36028	234563382	14687239	200	76375											
LYST	1130	broad.mit.edu	37	chr1	235922628	235922631	+	Frame_Shift_Del	DEL	ACAA	ACAA	-													gagaggacagcttccatttcAcaaacagtttttgcagactc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:235922627_235922630CACAA>C	uc001hxj.2	-	22	6698_6701	c.6523_6526TTGTG>G	c.(6523-6528)tgtgaafs	p.C2175fs	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	2175					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GCTTCCATTTCACAAACAGTTTTT	0.466													-	235922631	ACAA	-	235922628	7	5	131	1	0	1	0	1	0	0	0	0	9128	157	6	0	5004	0	LYST	1	235922628	Frame_Shift_Del	DEL	ACAA	TCGA-BR-A4QL-01A-31D-A25D-08	1359246	235922628	13327993	201	76376											
FMN2	56776	broad.mit.edu	37	chr1	240601362	240601362	+	Splice_Site	DEL	T	T	-													tgtgtgtatgatttgacagcTttttggagaccacggcatat							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:240601361_240601361CT>C	uc010pye.2	+	17	5148	c.4923_splice	c.e17-1	p.C1641_splice	FMN2_uc010pyd.2_Splice_Site_p.C1637_splice|FMN2_uc010pyg.2_Splice_Site_p.C233_splice	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1637	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GATTTGACAGCTTTTTGGAGA	0.378													-	240601362	T	-	240601362	8	5	131	1	0	1	0	1	0	0	1	0	5950	1623	56	0	4974	0	FMN2	1	240601362	Splice_Site	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	4678734	240601362	8649259	202	76377											
FH	2271	broad.mit.edu	37	chr1	241672068	241672068	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgtgcattgctgtgggAaaagtatcatttgagctctg	12	6	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:241672068A>G	uc001hyx.2	-	5	605	c.573T>C	c.(571-573)TTT>TTC	p.F191F		NM_000143	NP_000134	P07954	FUMH_HUMAN	fumarate hydratase precursor	191					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			lung(3)|ovary(1)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TTGCTGTGGGAAAAGTATCAT	0.333			Mis|N|F			lieomyomatosis|renal			Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer				G	241672068	A	G	241672068	2	3	131	1	0	0	0	0	0	0	0	1	5875	243	9	3		3	FH	1	241672068	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1070706	241672068	7578553	203	76378											
SCCPDH	51097	broad.mit.edu	37	chr1	246923498	246923499	+	Frame_Shift_Ins	INS	-	-	T													tggttcttctcctttggctaINStttttcaaaacaaggcccaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:246923498_246923499insT	uc001ibr.2	+	9	1306_1307	c.959_960insT	c.(958-960)TATfs	p.Y320fs		NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	320						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			ovary(1)	1	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		TCCTTTGGCTATTTTTCAAAAC	0.287													T	246923499	-	T	246923498	7	5	131	1	0	1	1	0	0	0	0	0	13885	449	16	0	993	0	SCCPDH	1	246923498	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	5251430	246923498	2327123	204	76379	348	2									
SCCPDH	51097	broad.mit.edu	37	chr1	246923499	246923500	+	Frame_Shift_Ins	INS	-	-	T													ggttcttctcctttggctatINSttttcaaaacaaggcccaac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:246923498_246923499A>AT	uc001ibr.3	+	8	1306_1307	c.959_960A>AT	c.(958-960)tatfs	p.Y320fs		NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	Homo sapiens saccharopine dehydrogenase (putative) (SCCPDH), mRNA.	320						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	p.Y320H(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		TCCTTTGGCTATTTTTCAAAAC	0.287													T	246923500	-	T	246923499	7	5	131	1	0	1	1	0	0	0	0	0	13885	1500	52	0	994	0	SCCPDH	1	246923499	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	246923499	2327122	205	76380	348	2									
ZNF496	84838	broad.mit.edu	37	chr1	247473056	247473056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatcctgcaactctggaacGcgtggctcattctcctctcc	8	15	4	1	rs112850226		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:247473056G>A	uc001ico.2	-	7	1302	c.837C>T	c.(835-837)CGC>CGT	p.R279R	ZNF496_uc009xgv.2_Silent_p.R315R|ZNF496_uc001icp.2_Silent_p.R279R|ZNF496_uc001icq.1_Silent_p.R54R	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	279	KRAB.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			ACTCTGGAACGCGTGGCTCAT	0.517													A	247473056	G	A	247473056	2	1	131	1	0	0	0	0	0	0	0	1	17942	1074	38	1		1	ZNF496	1	247473056	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	549557	247473056	1777565	206	76381											
ZNF496	84838	broad.mit.edu	37	chr1	247486457	247486457	+	Frame_Shift_Del	DEL	G	G	-													tcctgtagaaaccactcaccGggggtagctggagggtggtc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:247486457delG	uc001ico.2	-	5	1115	c.650delC	c.(649-651)CCGfs	p.P217fs	ZNF496_uc009xgv.2_Frame_Shift_Del_p.P217fs|ZNF496_uc001icp.2_Frame_Shift_Del_p.P217fs|ZNF496_uc010pyv.1_Frame_Shift_Del_p.P217fs	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	217					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			ACCACTCACCGGGGGTAGCTG	0.522													-	247486457	G	-	247486457	7	5	131	1	0	1	0	1	0	0	0	0	17942	1130	39	0	1133	0	ZNF496	1	247486457	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	13401	247486457	1764164	207	76382											
OR2T3	343173	broad.mit.edu	37	chr1	248636988	248636988	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgttcttctacctgaccctgGctggagctgaggttttcctc	10	12	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:248636988G>C	uc001iel.1	+	1	337	c.337G>C	c.(337-339)GCT>CCT	p.A113P		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	113	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTGACCCTGGCTGGAGCTGA	0.552													C	248636988	G	C	248636988	3	2	131	1	0	0	0	0	1	0	0	0	11023	1203	42	5	339	5	OR2T3	1	248636988	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1150531	248636988	613633	208	76383											
OR2T10	127069	broad.mit.edu	37	chr1	248756419	248756419	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggatgatatagtagtaAgacactgaaatgaccgtcac	11	6	1	5			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr1:248756419A>G	uc010pzn.1	-	1	651	c.651T>C	c.(649-651)TCT>TCC	p.S217S		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T,	217	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TATAGTAGTAAGACACTGAAA	0.453													G	248756419	A	G	248756419	2	3	131	1	0	0	0	0	0	0	0	1	11017	59	3	3		3	OR2T10	1	248756419	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	119431	248756419	494202	209	76384											
FAM110C	642273	broad.mit.edu	37	chr2	45589	45589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcagcccctcgtcgtcgCcgccgctgtgccgggagaag	14	17	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:45589C>T	uc010yim.1	-	1	797	c.797G>A	c.(796-798)GGC>GAC	p.G266D		NM_001077710	NP_001071178	Q1W6H9	F110C_HUMAN	hypothetical protein LOC642273	266						microtubule|microtubule organizing center|spindle pole					0	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		CTCGTCGTCGCCGCCGCTGTG	0.667													T	45589	C	T	45589	3	4	131	1	0	0	0	0	1	0	0	0	5398	739	26	2	176	2	FAM110C	2	45589	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08		45589	243153784	210	76385											
PXDN	7837	broad.mit.edu	37	chr2	1652064	1652064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtgggatcccgtggtccCggccccgctggatgttgatg	17	11	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:1652064C>T	uc002qxa.2	-	17	3552	c.3488G>A	c.(3487-3489)CGG>CAG	p.R1163Q		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1163					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCCGTGGTCCCGGCCCCGCTG	0.602													T	1652064	C	T	1652064	3	4	131	1	0	0	0	0	1	0	0	0	12847	652	23	1	979	1	PXDN	2	1652064	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1606475	1652064	241547309	211	76386											
MYT1L	23040	broad.mit.edu	37	chr2	1796190	1796190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttctgctgctcaatcactTtgttctcctcttcgatggtc	7	13	5	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:1796190T>C	uc002qxe.2	-	24	4150	c.3323A>G	c.(3322-3324)AAA>AGA	p.K1108R	MYT1L_uc002qxd.2_Missense_Mutation_p.K1106R|MYT1L_uc010ewk.2_Missense_Mutation_p.K106R	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1108	Potential.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTCAATCACTTTGTTCTCCTC	0.542													C	1796190	T	C	1796190	3	2	131	1	0	0	0	0	1	0	0	0	10107	1841	64	3	245	3	MYT1L	2	1796190	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	144126	1796190	241403183	212	76387											
RPS7	6201	broad.mit.edu	37	chr2	3628430	3628430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtctataagaagctcacGggcaaggatgttaattttga	12	5	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:3628430G>A	uc002qxw.2	+	7	649	c.543G>A	c.(541-543)ACG>ACA	p.T181T	RPS7_uc002qxy.2_RNA	NM_001011	NP_001002	P62081	RS7_HUMAN	ribosomal protein S7	181					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		AGAAGCTCACGGGCAAGGATG	0.303													A	3628430	G	A	3628430	2	1	131	1	0	0	0	0	0	0	0	1	13660	1103	39	1		1	RPS7	2	3628430	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1832240	3628430	239570943	213	76388											
COLEC11	78989	broad.mit.edu	37	chr2	3691383	3691383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggaggagaagcgctacgCggacgcccagctgtcctgcc	15	13	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:3691383C>T	uc002qya.2	+	7	639	c.491C>T	c.(490-492)GCG>GTG	p.A164V	COLEC11_uc002qxz.2_Missense_Mutation_p.A161V|COLEC11_uc002qyb.2_Missense_Mutation_p.A140V|COLEC11_uc002qyc.2_Missense_Mutation_p.A140V|COLEC11_uc010ewo.2_Missense_Mutation_p.A116V|COLEC11_uc010ewp.2_Missense_Mutation_p.A138V|COLEC11_uc010ewq.2_Missense_Mutation_p.A114V|COLEC11_uc010ewr.2_Missense_Mutation_p.A114V|COLEC11_uc010ews.2_Missense_Mutation_p.A90V	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	collectin sub-family member 11 isoform a	164	C-type lectin.					collagen	mannose binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		AAGCGCTACGCGGACGCCCAG	0.657													T	3691383	C	T	3691383	3	4	131	1	0	0	0	0	1	0	0	0	3711	768	27	1	596	1	COLEC11	2	3691383	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	62953	3691383	239507990	214	76389											
ROCK2	9475	broad.mit.edu	37	chr2	11359113	11359113	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatttttccttgattgtatGgaatcagtttctctacaaga	6	7	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:11359113G>T	uc002rbd.1	-	10	1748	c.1299C>A	c.(1297-1299)TCC>TCA	p.S433S		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	433	Potential.|Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTGATTGTATGGAATCAGTTT	0.284													T	11359113	G	T	11359113	2	4	131	1	0	0	0	0	0	0	0	1	13518	1335	47	5		5	ROCK2	2	11359113	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	7667730	11359113	231840260	215	76390											
FAM84A	151354	broad.mit.edu	37	chr2	14774273	14774274	+	Frame_Shift_Ins	INS	-	-	C													gacaagtttggcgtgaaggcINSccccccgggttgcaccccct					rs78327295		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:14774272_14774273G>GC	uc021ved.1	+	0	169_170	c.169_170G>GC	c.(169-171)gccfs	p.A57fs	FAM84A_uc002rbz.2_Frame_Shift_Ins_p.A57fs|AX747684_uc002rca.1_5'Flank	NM_145175	NP_660158	Q96KN4	FA84A_HUMAN	Homo sapiens family with sequence similarity 84, member A (FAM84A), mRNA.	57										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			TGGCGTGAAGGCCCCCCCGGGT	0.634													C	14774274	-	C	14774273	7	5	131	1	0	1	1	0	0	0	0	0	5641	739	26	0	172	0	FAM84A	2	14774273	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	3415160	14774273	228425100	216	76391											
DDX1	1653	broad.mit.edu	37	chr2	15760382	15760382	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgatgtaaagaaactgtcCgagaagataatgcattttcc	8	7	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:15760382C>T	uc002rce.2	+	17	1545	c.1257C>T	c.(1255-1257)TCC>TCT	p.S419S	DDX1_uc010yjq.1_Silent_p.S327S	NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	419	Necessary for interaction with RELA.|Helicase ATP-binding.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		AGAAACTGTCCGAGAAGATAA	0.368													T	15760382	C	T	15760382	2	4	131	1	0	0	0	0	0	0	0	1	4341	639	23	1		1	DDX1	2	15760382	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	986109	15760382	227438991	217	76392											
SMC6	79677	broad.mit.edu	37	chr2	17899380	17899380	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccttttcttagcaacaacAtctgctttcaatgccataca	4	13	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:17899380A>G	uc002rco.2	-	12	1352	c.1056T>C	c.(1054-1056)GAT>GAC	p.D352D	SMC6_uc010exo.2_Silent_p.D352D|SMC6_uc002rcn.2_Silent_p.D352D|SMC6_uc002rcp.1_Silent_p.D378D|SMC6_uc002rcq.2_Silent_p.D378D|SMC6_uc002rcr.1_Silent_p.D352D	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	352	Potential.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TAGCAACAACATCTGCTTTCA	0.363													G	17899380	A	G	17899380	2	3	131	1	0	0	0	0	0	0	0	1	14787	214	8	3		3	SMC6	2	17899380	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	2138998	17899380	225299993	218	76393											
KCNS3	3790	broad.mit.edu	37	chr2	18112465	18112465	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtgatgattacagtgtggccGataaggagtactactttgat	12	5	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:18112465G>T	uc002rcv.2	+	3	641	c.190G>T	c.(190-192)GAT>TAT	p.D64Y	KCNS3_uc002rcw.2_Missense_Mutation_p.D64Y	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	64	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CAGTGTGGCCGATAAGGAGTA	0.478													T	18112465	G	T	18112465	3	4	131	1	0	0	0	0	1	0	0	0	8090	1058	37	5	192	5	KCNS3	2	18112465	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	213085	18112465	225086908	219	76394											
APOB	338	broad.mit.edu	37	chr2	21232207	21232207	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctagggtctctcggaaTttggccttcatgtgagccaa	10	10	4	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:21232207T>C	uc002red.2	-	26	7661	c.7533A>G	c.(7531-7533)AAA>AAG	p.K2511K		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2511					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTCTCGGAATTTGGCCTTCA	0.438													C	21232207	T	C	21232207	2	2	131	1	0	0	0	0	0	0	0	1	785	1490	52	3		3	APOB	2	21232207	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	3119742	21232207	221967166	220	76395											
ASXL2	55252	broad.mit.edu	37	chr2	25982513	25982513	+	Frame_Shift_Del	DEL	T	T	-													catttagttcttttcatttgTcctacaaaaacagagaagaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:25982513delT	uc002rgs.2	-	8	998	c.777delA	c.(775-777)AGAfs	p.R259fs	ASXL2_uc002rgt.1_5'UTR	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTCATTTGTCCTACAAAAA	0.388													-	25982513	T	-	25982513	7	5	131	1	0	1	0	1	0	0	0	0	1067	1681	58	0	3550	0	ASXL2	2	25982513	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	4750306	25982513	217216860	221	76396											
ASXL2	55252	broad.mit.edu	37	chr2	26101090	26101090	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctacgtcccttttccctcAtgtcgggtcttgaactgact	7	14	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:26101090A>G	uc002rgs.2	-	1	223	c.2T>C	c.(1-3)ATG>ACG	p.M1T		NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTTCCCTCATGTCGGGTCT	0.667													G	26101090	A	G	26101090	3	3	131	1	0	0	0	0	1	0	0	0	1067	217	8	3	4353	3	ASXL2	2	26101090	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	118577	26101090	217098283	222	76397											
EMILIN1	11117	broad.mit.edu	37	chr2	27302078	27302079	+	Frame_Shift_Ins	INS	-	-	C													ggggccccaggcccagattgINSccccccggccagccagccgc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:27302078_27302079insC	uc002rii.3	+	1	573_574	c.145_146insC	c.(145-147)GCCfs	p.A49fs	EMILIN1_uc010eyq.1_Frame_Shift_Ins_p.A49fs	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	49					cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCCAGATTGCCCCCCGGCCA	0.688													C	27302079	-	C	27302078	7	5	131	1	0	1	1	0	0	0	0	0	5093	1319	46	0	147	0	EMILIN1	2	27302078	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1200988	27302078	215897295	223	76398	349	2									
EMILIN1	11117	broad.mit.edu	37	chr2	27302079	27302080	+	Frame_Shift_Ins	INS	-	-	C													gggccccaggcccagattgcINScccccggccagccagccgcc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:27302078_27302079G>GC	uc002rii.4	+	0	644_645	c.145_146G>GC	c.(145-147)gccfs	p.A49fs	EMILIN1_uc010eyq.2_Frame_Shift_Ins_p.A49fs	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.	49					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCCAGATTGCCCCCCGGCCA	0.688													C	27302080	-	C	27302079	7	5	131	1	0	1	1	0	0	0	0	0	5093	739	26	0	148	0	EMILIN1	2	27302079	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	27302079	215897294	224	76399	349	2									
C2orf53	339779	broad.mit.edu	37	chr2	27360918	27360918	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgaaagaaagtaggggAacttgggagagagggagaat	18	2	0	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:27360918A>G	uc002rjb.2	-	3	860	c.280T>C	c.(280-282)TCC>CCC	p.S94P		NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	hypothetical protein LOC339779	94	Pro-rich.										0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAGTAGGGGAACTTGGGAGA	0.323													G	27360918	A	G	27360918	3	3	131	1	0	0	0	0	1	0	0	0	2174	246	9	3	962	3	C2orf53	2	27360918	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	58839	27360918	215838455	225	76400											
MPV17	4358	broad.mit.edu	37	chr2	27535561	27535563	+	In_Frame_Del	DEL	TCT	TCT	-													gctcacctgatccaacaacaTcttcttcagtgcatccactt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:27535561_27535563delTCT	uc002rjr.2	-	3	310_312	c.263_265delAGA	c.(262-267)AAGATG>ATG	p.K88del	MPV17_uc002rjq.2_In_Frame_Del_p.K88del|MPV17_uc002rjs.2_In_Frame_Del_p.K88del|MPV17_uc002rjt.2_RNA	NM_002437	NP_002428	P39210	MPV17_HUMAN	Mpv17 protein	88					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAACAACATCTTCTTCAGTGC	0.522													-	27535563	TCT	-	27535561	7	5	131	1	0	1	0	1	0	0	0	0	9745	1435	50	0	285	0	MPV17	2	27535561	In_Frame_Del	DEL	TCT	TCGA-BR-A4QL-01A-31D-A25D-08	174643	27535561	215663812	226	76401											
SNX17	9784	broad.mit.edu	37	chr2	27597016	27597016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttagtctattcttagttcGagaaaaagaggatggagcct	10	6	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:27597016G>A	uc002rkg.1	+	6	719	c.497G>A	c.(496-498)CGA>CAA	p.R166Q	SNX17_uc010ylj.1_Missense_Mutation_p.R146Q|SNX17_uc010ylk.1_5'UTR|SNX17_uc010eza.1_5'UTR|SNX17_uc002rki.1_RNA|SNX17_uc002rkh.1_5'UTR|SNX17_uc010yll.1_5'UTR|SNX17_uc010ylm.1_5'UTR|SNX17_uc010yln.1_Missense_Mutation_p.R154Q|SNX17_uc010ylo.1_Missense_Mutation_p.R84Q|SNX17_uc010ylp.1_Missense_Mutation_p.R141Q|SNX17_uc010ylq.1_5'UTR	NM_014748	NP_055563	Q15036	SNX17_HUMAN	sorting nexin 17	166	Ras-associating.				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTTAGTTCGAGAAAAAGAG	0.468													A	27597016	G	A	27597016	3	1	131	1	0	0	0	0	1	0	0	0	14888	1058	37	1	519	1	SNX17	2	27597016	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	61455	27597016	215602357	227	76402											
FOSL2	2355	broad.mit.edu	37	chr2	28627027	28627027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattcatccccaccatcaaCgccatcacgaccagccagga	6	18	3	0	rs112541505		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:28627027C>T	uc002rma.2	+	2	965	c.156C>T	c.(154-156)AAC>AAT	p.N52N	FOSL2_uc010ymi.1_Silent_p.N13N	NM_005253	NP_005244	P15408	FOSL2_HUMAN	FOS-like antigen 2	52					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(172;0.155)					CCACCATCAACGCCATCACGA	0.527													T	28627027	C	T	28627027	2	4	131	1	0	0	0	0	0	0	0	1	5988	535	19	1		1	FOSL2	2	28627027	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1030011	28627027	214572346	228	76403											
EHD3	30845	broad.mit.edu	37	chr2	31483572	31483572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagctgatgcgggtgtaCggggccctcatgtggtcctt	15	11	1	1	rs147844646		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:31483572C>T	uc002rnu.2	+	4	1307	c.699C>T	c.(697-699)TAC>TAT	p.Y233Y	EHD3_uc010ymt.1_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	233					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)					TGCGGGTGTACGGGGCCCTCA	0.577													T	31483572	C	T	31483572	2	4	131	1	0	0	0	0	0	0	0	1	4979	547	19	1		1	EHD3	2	31483572	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2856545	31483572	211715801	229	76404											
NLRC4	58484	broad.mit.edu	37	chr2	32460605	32460605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccagggcagcatcagtgCggtgagctgttctagcacgt	14	12	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:32460605C>T	uc002roi.2	-	8	2893	c.2647G>A	c.(2647-2649)GCA>ACA	p.A883T	NLRC4_uc002roj.1_Missense_Mutation_p.A883T|NLRC4_uc010ezt.1_Missense_Mutation_p.A218T	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	883	LRR 10.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGCATCAGTGCGGTGAGCTGT	0.517													T	32460605	C	T	32460605	3	4	131	1	0	0	0	0	1	0	0	0	10469	768	27	1	435	1	NLRC4	2	32460605	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	977033	32460605	210738768	230	76405											
BIRC6	57448	broad.mit.edu	37	chr2	32626547	32626547	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttaggtgcacttaaagtttgAaattaatgcctatgatccag	8	6	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:32626547A>T	uc010ezu.2	+	8	1408	c.1274A>T	c.(1273-1275)GAA>GTA	p.E425V		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	425					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TTAAAGTTTGAAATTAATGCC	0.358													T	32626547	A	T	32626547	3	4	131	1	0	0	0	0	1	0	0	0	1438	246	9	5	1304	5	BIRC6	2	32626547	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	165942	32626547	210572826	231	76406											
FAM98A	25940	broad.mit.edu	37	chr2	33813510	33813510	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgaaagacctcactaccGcctccttcttgagctttttt	5	13	3	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:33813510G>A	uc002rpa.1	-	4	488	c.414C>T	c.(412-414)GGC>GGT	p.G138G	FAM98A_uc010yne.1_Intron|FAM98A_uc010ynd.1_5'Flank|FAM98A_uc002roz.1_Silent_p.G15G	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	hypothetical protein LOC25940	138										ovary(1)	1	all_hematologic(175;0.115)					CCTCACTACCGCCTCCTTCTT	0.418													A	33813510	G	A	33813510	2	1	131	1	0	0	0	0	0	0	0	1	5656	1074	38	1		1	FAM98A	2	33813510	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1186963	33813510	209385863	232	76407											
CRIM1	51232	broad.mit.edu	37	chr2	36739444	36739444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcacggctgtgacatctgtCgctgtaagaaatgtccagag	12	9	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:36739444C>T	uc002rpd.2	+	10	1726	c.1687C>T	c.(1687-1689)CGC>TGC	p.R563C		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	563	Antistasin-like 3.|Extracellular (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TGACATCTGTCGCTGTAAGAA	0.463													T	36739444	C	T	36739444	3	4	131	1	0	0	0	0	1	0	0	0	3873	884	31	1	1725	1	CRIM1	2	36739444	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2925934	36739444	206459929	233	76408											
PKDCC	91461	broad.mit.edu	37	chr2	42282160	42282160	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagcatcgtcaacgccacaGgtgagctctccagggcccat	10	15	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:42282160G>T	uc002rsg.2	+	4	1293	c.1114G>T	c.(1114-1116)GGA>TGA	p.G372*		NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN	protein kinase-like protein SgK493	372	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(1)	1						CAACGCCACAGGTGAGCTCTC	0.592													T	42282160	G	T	42282160	4	4	131	1	0	0	0	0	0	1	0	0	11969	1014	35	5	1128	5	PKDCC	2	42282160	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	5542716	42282160	200917213	234	76409											
MTA3	57504	broad.mit.edu	37	chr2	42909709	42909709	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatatggcaaagacttcAatgacatacggcaagatttt	7	6	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:42909709A>G	uc002rso.1	+	10	1373	c.703A>G	c.(703-705)AAT>GAT	p.N235D	MTA3_uc002rsp.1_Missense_Mutation_p.N235D|MTA3_uc002rsq.2_Missense_Mutation_p.N291D|MTA3_uc002rsr.2_Missense_Mutation_p.N291D	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	291	SANT.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						CAAAGACTTCAATGACATACG	0.358													G	42909709	A	G	42909709	3	3	131	1	0	0	0	0	1	0	0	0	9910	130	5	3	905	3	MTA3	2	42909709	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	627549	42909709	200289664	235	76410											
PRKCE	5581	broad.mit.edu	37	chr2	46313362	46313362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggaccgcctctttttcGtcatggaatatgtaaatggt	9	8	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:46313362G>A	uc002rut.2	+	11	1650	c.1453G>A	c.(1453-1455)GTC>ATC	p.V485I		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	485	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CCTCTTTTTCGTCATGGAATA	0.488													A	46313362	G	A	46313362	3	1	131	1	0	0	0	0	1	0	0	0	12511	1145	40	1	1495	1	PRKCE	2	46313362	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	3403653	46313362	196886011	236	76411											
EPAS1	2034	broad.mit.edu	37	chr2	46605204	46605204	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caccacccccagtgccaccaGcagcagcagcagctgctcca	8	20	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:46605204G>C	uc002ruv.2	+	10	1909	c.1421G>C	c.(1420-1422)AGC>ACC	p.S474T	EPAS1_uc002ruw.2_5'Flank	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	474	Poly-Ser.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AGTGCCACCAGCAGCAGCAGC	0.647													C	46605204	G	C	46605204	3	2	131	1	0	0	0	0	1	0	0	0	5150	971	34	5	1459	5	EPAS1	2	46605204	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	291842	46605204	196594169	237	76412											
FBXO11	80204	broad.mit.edu	37	chr2	48059584	48059585	+	Frame_Shift_Ins	INS	-	-	G													gatttttaacccaaatcccaINSgctaacgcattattggaaat							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:48059584_48059585insG	uc010fbl.2	-	11	1163_1164	c.1049_1050insC	c.(1048-1050)GCTfs	p.A350fs	FBXO11_uc002rwe.2_Frame_Shift_Ins_p.A350fs|FBXO11_uc002rwf.2_Frame_Shift_Ins_p.A350fs|FBXO11_uc002rwg.1_Frame_Shift_Ins_p.A350fs|FBXO11_uc010fbk.2_5'UTR	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	434	PbH1 2.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCCAAATCCCAGCTAACGCATT	0.332													G	48059585	-	G	48059584	7	5	131	1	0	1	1	0	0	0	0	0	5727	175	7	0	1623	0	FBXO11	2	48059584	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1454380	48059584	195139789	238	76413	350	2									
FBXO11	80204	broad.mit.edu	37	chr2	48059585	48059586	+	Frame_Shift_Ins	INS	-	-	G													atttttaacccaaatcccagINSctaacgcattattggaaatt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:48059584_48059585A>AG	uc002rwe.3	-	10	1374_1375	c.1301_1302T>CT	c.(1300-1302)gctfs	p.A434fs	FBXO11_uc010fbl.3_Frame_Shift_Ins_p.A350fs|FBXO11_uc002rwg.2_Frame_Shift_Ins_p.A434fs|FBXO11_uc010fbk.3_5'UTR|FBXO11_uc021vhe.1_Frame_Shift_Ins_p.A234fs	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	434					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCCAAATCCCAGCTAACGCATT	0.332			"Mis, F, D"		DLBCL								G	48059586	-	G	48059585	7	5	131	1	0	1	1	0	0	0	0	0	5727	971	34	0	1624	0	FBXO11	2	48059585	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	48059585	195139788	239	76414	350	2									
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	131	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	6107555	54167140	189032233	240	76415											
TSPYL6	388951	broad.mit.edu	37	chr2	54482354	54482354	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggatctgacctcatacAcctttacaatcagcttgttt	6	11	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:54482354A>G	uc002rxr.2	-	1	1056	c.935T>C	c.(934-936)GTG>GCG	p.V312A	ACYP2_uc002rxq.3_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	TSPY-like 6	312					nucleosome assembly	nucleus					0						GACCTCATACACCTTTACAAT	0.468													G	54482354	A	G	54482354	3	3	131	1	0	0	0	0	1	0	0	0	16660	159	6	3	301	3	TSPYL6	2	54482354	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	315214	54482354	188717019	241	76416											
BCL11A	53335	broad.mit.edu	37	chr2	60688652	60688652	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgaacttggccaccacGgacttgagcgcgctgctggc	12	14	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:60688652G>T	uc002sae.1	-	4	1623	c.1395C>A	c.(1393-1395)TCC>TCA	p.S465S	BCL11A_uc002sab.2_Silent_p.S465S|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Silent_p.S134S|BCL11A_uc010ypj.1_Silent_p.S431S|BCL11A_uc002sad.1_Silent_p.S313S|BCL11A_uc002saf.1_Silent_p.S431S	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	465					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGGCCACCACGGACTTGAGCG	0.483			T	IGH@	B-CLL								T	60688652	G	T	60688652	2	4	131	1	0	0	0	0	0	0	0	1	1363	1103	39	5		5	BCL11A	2	60688652	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	6206298	60688652	182510721	242	76417											
BCL11A	53335	broad.mit.edu	37	chr2	60688858	60688858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctcgcccgtgtggctgcGccggtgcaccaccaggttgc	13	16	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:60688858G>A	uc002sae.1	-	4	1417	c.1189C>T	c.(1189-1191)CGC>TGC	p.R397C	BCL11A_uc002sab.2_Missense_Mutation_p.R397C|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.R66C|BCL11A_uc010ypj.1_Missense_Mutation_p.R363C|BCL11A_uc002sad.1_Missense_Mutation_p.R245C|BCL11A_uc002saf.1_Missense_Mutation_p.R363C	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	397	C2H2-type 2.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GTGTGGCTGCGCCGGTGCACC	0.617			T	IGH@	B-CLL								A	60688858	G	A	60688858	3	1	131	1	0	0	0	0	1	0	0	0	1363	1087	38	1	1428	1	BCL11A	2	60688858	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	206	60688858	182510515	243	76418											
BCL11A	53335	broad.mit.edu	37	chr2	60688969	60688969	+	Frame_Shift_Del	DEL	G	G	-													ggcggattgcagaggagggaGggggggcgtcgccaggaagg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:60688969delG	uc002sae.1	-	4	1306	c.1078delC	c.(1078-1080)CTCfs	p.L360fs	BCL11A_uc002sab.2_Frame_Shift_Del_p.L360fs|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Frame_Shift_Del_p.L326fs|BCL11A_uc002sad.1_Frame_Shift_Del_p.L208fs|BCL11A_uc002saf.1_Frame_Shift_Del_p.L326fs	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	360	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AGAGGAGGGAGGGGGGGCGTC	0.632			T	IGH@	B-CLL								-	60688969	G	-	60688969	7	5	131	1	0	1	0	1	0	0	0	0	1363	1000	35	0	1539	0	BCL11A	2	60688969	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	111	60688969	182510404	244	76419											
USP34	9736	broad.mit.edu	37	chr2	61552563	61552563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaagtcaagaattgaagaCgaacttgaacttcagcacta	7	9	2	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:61552563C>T	uc002sbe.2	-	21	2982	c.2960G>A	c.(2959-2961)CGT>CAT	p.R987H		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	987					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			GAATTGAAGACGAACTTGAAC	0.279													T	61552563	C	T	61552563	3	4	131	1	0	0	0	0	1	0	0	0	17062	536	19	1	7920	1	USP34	2	61552563	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	863594	61552563	181646810	245	76420											
UGP2	7360	broad.mit.edu	37	chr2	64085069	64085069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagagaccccctgaagattCggtaagttttagataaaatg	9	8	0	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:64085069C>T	uc002scm.2	+	3	560	c.254C>T	c.(253-255)TCG>TTG	p.S85L	UGP2_uc002scl.2_Missense_Mutation_p.S74L|UGP2_uc010ypx.1_Missense_Mutation_p.S94L	NM_006759	NP_006750	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2 isoform a	85					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity				0						CCTGAAGATTCGGTAAGTTTT	0.408													T	64085069	C	T	64085069	3	4	131	1	0	0	0	0	1	0	0	0	16940	898	31	1	264	1	UGP2	2	64085069	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2532506	64085069	179114304	246	76421											
MEIS1	4211	broad.mit.edu	37	chr2	66667042	66667042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagctacttgtaccccccgcGagccgggggtggcgggcggg	18	13	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:66667042G>A	uc002sdu.2	+	3	764	c.307G>A	c.(307-309)GAG>AAG	p.E103K	MEIS1_uc002sdt.2_Missense_Mutation_p.E103K|MEIS1_uc002sdv.2_Missense_Mutation_p.E101K|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_Missense_Mutation_p.E38K|MEIS1_uc002sdw.1_5'Flank	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Meis homeobox 1	103							sequence-specific DNA binding transcription factor activity				0						TACCCCCCGCGAGCCGGGGGT	0.473													A	66667042	G	A	66667042	3	1	131	1	0	0	0	0	1	0	0	0	9467	1059	37	1	317	1	MEIS1	2	66667042	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2581973	66667042	176532331	247	76422											
MEIS1	4211	broad.mit.edu	37	chr2	66775109	66775109	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaacagaaaaagcagtTggcacaagacacgggactca	11	8	1	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:66775109T>C	uc002sdu.2	+	9	1380	c.923T>C	c.(922-924)TTG>TCG	p.L308S	MEIS1_uc002sdt.2_Missense_Mutation_p.L308S|MEIS1_uc002sdv.2_Missense_Mutation_p.L306S|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_Missense_Mutation_p.L243S|MEIS1_uc002sdw.1_Missense_Mutation_p.L164S	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Meis homeobox 1	308	Homeobox; TALE-type.						sequence-specific DNA binding transcription factor activity				0						AAAAAGCAGTTGGCACAAGAC	0.423													C	66775109	T	C	66775109	3	2	131	1	0	0	0	0	1	0	0	0	9467	1821	63	3	957	3	MEIS1	2	66775109	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	108067	66775109	176424264	248	76423											
GMCL1	64395	broad.mit.edu	37	chr2	70096881	70096881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggacaggttttaacttcGgcttcgacctacttgtaact	9	9	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:70096881G>A	uc002sfu.2	+	12	1456	c.1249G>A	c.(1249-1251)GGC>AGC	p.G417S		NM_178439	NP_848526	Q96IK5	GMCL1_HUMAN	germ cell-less	417					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				ovary(3)	3						TTTTAACTTCGGCTTCGACCT	0.363													A	70096881	G	A	70096881	3	1	131	1	0	0	0	0	1	0	0	0	6485	1116	39	1	1295	1	GMCL1	2	70096881	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	3321772	70096881	173102492	249	76424											
MXD1	4084	broad.mit.edu	37	chr2	70164383	70164383	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaacttgaagattgtgAcagaaaagccgttcaccaaa	9	8	1	5			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:70164383A>G	uc002sfy.2	+	5	595	c.335A>G	c.(334-336)GAC>GGC	p.D112G	MXD1_uc010yqp.1_Missense_Mutation_p.D112G|MXD1_uc010yqq.1_Missense_Mutation_p.D49G|MXD1_uc010yqr.1_RNA|MXD1_uc010yqs.1_Missense_Mutation_p.D102G	NM_002357	NP_002348	Q05195	MAD1_HUMAN	MAX dimerization protein 1	112					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						GAAGATTGTGACAGAAAAGCC	0.542													G	70164383	A	G	70164383	3	3	131	1	0	0	0	0	1	0	0	0	9999	275	10	3	353	3	MXD1	2	70164383	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	67502	70164383	173034990	250	76425											
TIA1	7072	broad.mit.edu	37	chr2	70454867	70454867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttatcttctgttacttacGatattcttccaaatggtgca	5	8	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:70454867G>A	uc002sgj.3	-	6	615	c.398C>T	c.(397-399)TCA>TTA	p.S133L	TIA1_uc002sgk.3_Missense_Mutation_p.S122L|TIA1_uc002sgl.3_RNA|TIA1_uc002sgm.3_Missense_Mutation_p.S133L	NM_022173	NP_071505	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding	133	RRM 2.				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding				0						TGTTACTTACGATATTCTTCC	0.284													A	70454867	G	A	70454867	3	1	131	1	0	0	0	0	1	0	0	0	15884	1072	37	1	794	1	TIA1	2	70454867	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	290484	70454867	172744506	251	76426											
ATP6V1B1	525	broad.mit.edu	37	chr2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-													tttcttctccctcagatctaCccccccatcaacgtgctccc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:71191573delC	uc002shj.2	+	12	1236	c.1149delC	c.(1147-1149)TACfs	p.Y383fs	ATP6V1B1_uc010fdv.2_Frame_Shift_Del_p.Y366fs|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Frame_Shift_Del_p.Y341fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	383					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1						CTCAGATCTACCCCCCCATCA	0.547											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	71191573	C	-	71191573	7	5	131	1	0	1	0	1	0	0	0	0	1178	518	18	0	1195	0	ATP6V1B1	2	71191573	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	736706	71191573	172007800	252	76427											
ZNF638	27332	broad.mit.edu	37	chr2	71658542	71658542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcaggcaaatcagtggcGtctgatgtccctgagggtaa	12	9	4	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:71658542G>A	uc002shx.2	+	26	6055	c.5736G>A	c.(5734-5736)GCG>GCA	p.A1912A	ZNF638_uc002shy.2_Silent_p.A1912A|ZNF638_uc002shz.2_Silent_p.A1912A|ZNF638_uc002sia.2_Silent_p.A1912A|ZNF638_uc010fed.2_RNA|ZNF638_uc002sic.2_Silent_p.A1009A|ZNF638_uc002sid.2_Silent_p.A281A	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	1912					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						AATCAGTGGCGTCTGATGTCC	0.308													A	71658542	G	A	71658542	2	1	131	1	0	0	0	0	0	0	0	1	18052	1132	40	1		1	ZNF638	2	71658542	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	466969	71658542	171540831	253	76428											
DYSF	8291	broad.mit.edu	37	chr2	71801427	71801427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacagatgccttccgccgcCgccgctggcgccgtcgcatg	13	17	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:71801427C>T	uc002sie.2	+	30	3650	c.3274C>T	c.(3274-3276)CGC>TGC	p.R1092C	DYSF_uc010feg.2_Missense_Mutation_p.R1123C|DYSF_uc010feh.2_Missense_Mutation_p.R1078C|DYSF_uc002sig.3_Missense_Mutation_p.R1078C|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R1092C|DYSF_uc010fef.2_Missense_Mutation_p.R1109C|DYSF_uc010fei.2_Missense_Mutation_p.R1109C|DYSF_uc010fek.2_Missense_Mutation_p.R1110C|DYSF_uc010fej.2_Missense_Mutation_p.R1079C|DYSF_uc010fel.2_Missense_Mutation_p.R1079C|DYSF_uc010feo.2_Missense_Mutation_p.R1124C|DYSF_uc010fem.2_Missense_Mutation_p.R1093C|DYSF_uc010fen.2_Missense_Mutation_p.R1110C|DYSF_uc002sif.2_Missense_Mutation_p.R1093C|DYSF_uc010yqy.1_5'Flank	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1092	Cytoplasmic (Potential).|Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CTTCCGCCGCCGCCGCTGGCG	0.667													T	71801427	C	T	71801427	3	4	131	1	0	0	0	0	1	0	0	0	4859	652	23	1	3584	1	DYSF	2	71801427	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	142885	71801427	171397946	254	76429											
TPRKB	51002	broad.mit.edu	37	chr2	73961623	73961623	+	Frame_Shift_Del	DEL	T	T	-													ttcttctcaagtctcccgcaTtttttacatctttaaataac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:73961622_73961622AT>A	uc002sjn.2	-	1	186	c.75_75AT>T	c.(73-75)aatfs	p.N25fs	TPRKB_uc002sjm.2_Frame_Shift_Del_p.N25fs|TPRKB_uc002sjl.2_Intron|TPRKB_uc002sjo.2_Frame_Shift_Del_p.N25fs|TPRKB_uc010yrm.1_Intron	NM_016058	NP_057142	Q9Y3C4	TPRKB_HUMAN	Homo sapiens TP53RK binding protein (TPRKB), mRNA.	25					protein catabolic process	cytosol|nucleus	protein kinase binding			lung(2)|ovary(1)|skin(1)	4						AGTCTCCCGCATTTTTTACAT	0.403													-	73961623	T	-	73961623	7	5	131	1	0	1	0	1	0	0	0	0	16417	1493	52	0	469	0	TPRKB	2	73961623	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	2160196	73961623	169237750	255	76430											
TET3	200424	broad.mit.edu	37	chr2	74274599	74274599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacgccatcctcggagcccGacacccaccagaaggcccag	9	20	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:74274599G>A	uc002skb.3	+	1	1150	c.1150G>A	c.(1150-1152)GAC>AAC	p.D384N	TET3_uc010fez.1_Missense_Mutation_p.D384N	NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	384							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CTCGGAGCCCGACACCCACCA	0.657													A	74274599	G	A	74274599	3	1	131	1	0	0	0	0	1	0	0	0	15768	1058	37	1	1152	1	TET3	2	74274599	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	312976	74274599	168924774	256	76431											
TET3	200424	broad.mit.edu	37	chr2	74328868	74328868	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacttcctggacgagaacatCggcggcgtggccgtggcccc	14	14	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:74328868C>T	uc002skb.3	+	9	4548	c.4548C>T	c.(4546-4548)ATC>ATT	p.I1516I		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	1516							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						ACGAGAACATCGGCGGCGTGG	0.667													T	74328868	C	T	74328868	2	4	131	1	0	0	0	0	0	0	0	1	15768	874	31	1		1	TET3	2	74328868	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	54269	74328868	168870505	257	76432											
SLC4A5	57835	broad.mit.edu	37	chr2	74491388	74491388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcccggagctctggccGcaggagaccatcctcaatct	9	17	4	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:74491388G>A	uc002sko.1	-	5	603	c.601C>T	c.(601-603)CGG>TGG	p.R201W	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.R201W|SLC4A5_uc010ffc.1_Missense_Mutation_p.R201W|SLC4A5_uc002skp.1_Missense_Mutation_p.R137W|SLC4A5_uc002sks.1_Missense_Mutation_p.R201W	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	201	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						AGCTCTGGCCGCAGGAGACCA	0.552													A	74491388	G	A	74491388	3	1	131	1	0	0	0	0	1	0	0	0	14657	1086	38	1	2900	1	SLC4A5	2	74491388	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	162520	74491388	168707985	258	76433											
DCTN1	1639	broad.mit.edu	37	chr2	74589792	74589792	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaccttgagcttctcgacGgtgtcactcagggacttaag	11	11	3	2	rs115689748	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:74589792G>A	uc002skx.2	-	30	3905	c.3594C>T	c.(3592-3594)ACC>ACT	p.T1198T	SLC4A5_uc002skl.2_RNA|DCTN1_uc002skt.1_Silent_p.T132T|DCTN1_uc002skv.2_Silent_p.T1064T|DCTN1_uc002sku.2_Silent_p.T1059T|DCTN1_uc002skw.1_Silent_p.T1174T|DCTN1_uc010ffd.2_Silent_p.T1173T|DCTN1_uc002sky.2_Silent_p.T1156T	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	1198	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						GCTTCTCGACGGTGTCACTCA	0.542													A	74589792	G	A	74589792	2	1	131	1	0	0	0	0	0	0	0	1	4306	1103	39	1		1	DCTN1	2	74589792	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	98404	74589792	168609581	259	76434											
LRRTM4	80059	broad.mit.edu	37	chr2	77745718	77745718	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagagccacactcccggcaAtaattttgtgaaatgaaaca	8	9	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:77745718A>G	uc002snr.2	-	3	1692	c.1277T>C	c.(1276-1278)ATT>ACT	p.I426T	LRRTM4_uc002snq.2_Missense_Mutation_p.I426T|LRRTM4_uc002sns.2_Missense_Mutation_p.I426T|LRRTM4_uc002snt.2_Missense_Mutation_p.I427T	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	426	Helical; (Potential).					integral to membrane		p.I426F(1)		pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		ACTCCCGGCAATAATTTTGTG	0.493													G	77745718	A	G	77745718	3	3	131	1	0	0	0	0	1	0	0	0	9042	101	4	3	509	3	LRRTM4	2	77745718	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	3155926	77745718	165453655	260	76435											
CTNNA2	1496	broad.mit.edu	37	chr2	80646692	80646693	+	Frame_Shift_Del	DEL	AA	AA	-													ggaagtgaaagaatatgcccAagttttccgtgagcatgcca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:80646692_80646693delAA	uc010ysh.1	+	8	1261_1262	c.1256_1257delAA	c.(1255-1257)CAAfs	p.Q419fs	CTNNA2_uc010yse.1_Frame_Shift_Del_p.Q419fs|CTNNA2_uc010ysf.1_Frame_Shift_Del_p.Q419fs|CTNNA2_uc010ysg.1_Frame_Shift_Del_p.Q419fs|CTNNA2_uc010ysi.1_Frame_Shift_Del_p.Q51fs	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	419					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						GAATATGCCCAAGTTTTCCGTG	0.446													-	80646693	AA	-	80646692	7	5	131	1	0	1	0	1	0	0	0	0	4013	130	5	0	1078	0	CTNNA2	2	80646692	Frame_Shift_Del	DEL	AA	TCGA-BR-A4QL-01A-31D-A25D-08	2900974	80646692	162552681	261	76436											
VAMP5	10791	broad.mit.edu	37	chr2	85818963	85818963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggccgaactgcagcagcGttcagaccaactcctggata	11	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:85818963G>A	uc002spu.1	+	2	202	c.119G>A	c.(118-120)CGT>CAT	p.R40H		NM_006634	NP_006625	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	40	v-SNARE coiled-coil homology.|Cytoplasmic (Potential).				cell differentiation|vesicle-mediated transport	endomembrane system					0						CTGCAGCAGCGTTCAGACCAA	0.582													A	85818963	G	A	85818963	3	1	131	1	0	0	0	0	1	0	0	0	17113	1145	40	1	125	1	VAMP5	2	85818963	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	5172271	85818963	157380410	262	76437											
SFTPB	6439	broad.mit.edu	37	chr2	85892896	85892896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatttgcacaggcccaggtGcatacagatgccgtttgagt	13	9	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:85892896G>A	uc002sqh.2	-	5	421	c.415C>T	c.(415-417)CAC>TAC	p.H139Y	SFTPB_uc002sqi.2_Missense_Mutation_p.H151Y|SFTPB_uc002sqj.2_Missense_Mutation_p.H139Y	NM_198843	NP_942140	P07988	PSPB_HUMAN	surfactant, pulmonary-associated protein B	139	Saposin B-type 1.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				ovary(1)|central_nervous_system(1)	2						AGGCCCAGGTGCATACAGATG	0.647													A	85892896	G	A	85892896	3	1	131	1	0	0	0	0	1	0	0	0	14191	1319	46	2	754	2	SFTPB	2	85892896	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	73933	85892896	157306477	263	76438											
IMMT	10989	broad.mit.edu	37	chr2	86400804	86400804	+	Frame_Shift_Del	DEL	T	T	-													gctggagtatctcccttttgTttttggagttgtgaggcagg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:86400804delT	uc002sqz.3	-	4	778	c.390delA	c.(388-390)AAAfs	p.K130fs	IMMT_uc002sqy.3_5'Flank|IMMT_uc002srb.3_Frame_Shift_Del_p.K130fs|IMMT_uc002sra.3_Frame_Shift_Del_p.K130fs|IMMT_uc010ytd.1_Frame_Shift_Del_p.K130fs|IMMT_uc010yte.1_Frame_Shift_Del_p.K130fs|IMMT_uc002src.1_5'Flank|IMMT_uc002srd.2_Frame_Shift_Del_p.K130fs|IMMT_uc002sre.3_Frame_Shift_Del_p.K130fs|IMMT_uc010ytf.1_Frame_Shift_Del_p.K130fs|IMMT_uc010fgs.1_Frame_Shift_Del_p.K130fs	NM_006839	NP_006830	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial isoform 1	130	Mitochondrial intermembrane (Potential).					integral to mitochondrial inner membrane	protein binding			skin(1)	1						CTCCCTTTTGTTTTTGGAGTT	0.313													-	86400804	T	-	86400804	7	5	131	1	0	1	0	1	0	0	0	0	7718	1722	60	0	1934	0	IMMT	2	86400804	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	507908	86400804	156798569	264	76439											
KDM3A	55818	broad.mit.edu	37	chr2	86676934	86676934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattttgtctgtctaggtgtGtgtggaatttgatggggaat	14	2	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:86676934G>A	uc002sri.3	+	3	518	c.191G>A	c.(190-192)TGT>TAT	p.C64Y	KDM3A_uc010ytj.1_Missense_Mutation_p.C64Y|KDM3A_uc010ytk.1_Intron	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	64					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						GTCTAGGTGTGTGTGGAATTT	0.378													A	86676934	G	A	86676934	3	1	131	1	0	0	0	0	1	0	0	0	8126	1377	48	4	197	4	KDM3A	2	86676934	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	276130	86676934	156522439	265	76440											
ADRA2B	151	broad.mit.edu	37	chr2	96781111	96781111	+	Frame_Shift_Del	DEL	C	C	-													cccagtatcttcaggggtctCcccctcctccttctccccag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:96781111delC	uc002svi.2	-	1	778	c.778delG	c.(778-780)GAGfs	p.E260fs		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	260	Cytoplasmic (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	TCAGGGGTCTCCCCCTCCTCC	0.637													-	96781111	C	-	96781111	7	5	131	1	0	1	0	1	0	0	0	0	338	864	30	0	569	0	ADRA2B	2	96781111	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	10104177	96781111	146418262	266	76441											
EIF5B	9669	broad.mit.edu	37	chr2	99985021	99985021	+	Frame_Shift_Del	DEL	A	A	-													tttatgaagataaaaagaggAaaaaaataccacagcagcta							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:99985020_99985020GA>G	uc002tab.3	+	6	1537	c.1353_1353GA>G	c.(1351-1353)aggfs	p.R451fs		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	451					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	p.K450N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATAAAAAGAGGAAAAAAATAC	0.348													-	99985021	A	-	99985021	7	5	131	1	0	1	0	1	0	0	0	0	5044	247	9	0	1380	0	EIF5B	2	99985021	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	3203910	99985021	143214352	267	76442											
REV1	51455	broad.mit.edu	37	chr2	100058920	100058920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaatgtaggagaggagtcgtCcagctttgatgctgaaacaa	13	6	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:100058920C>T	uc002tad.2	-	5	574	c.362G>A	c.(361-363)GGA>GAA	p.G121E	REV1_uc002tac.2_Missense_Mutation_p.G121E|REV1_uc002tae.1_Missense_Mutation_p.G100E	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	121	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2						GAGGAGTCGTCCAGCTTTGAT	0.418								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	100058920	C	T	100058920	3	4	131	1	0	0	0	0	1	0	0	0	13239	855	30	4	3469	4	REV1	2	100058920	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	73899	100058920	143140453	268	76443											
AFF3	3899	broad.mit.edu	37	chr2	100266104	100266104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacctgtcagagagagcgcGgagagccgttctctgagctg	15	10	2	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:100266104G>A	uc002tag.2	-	12	1404	c.1168C>T	c.(1168-1170)CGC>TGC	p.R390C	AFF3_uc002taf.2_Missense_Mutation_p.R415C|AFF3_uc010fiq.1_Missense_Mutation_p.R390C|AFF3_uc010yvr.1_Missense_Mutation_p.R543C|AFF3_uc002tah.1_Missense_Mutation_p.R415C	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	390					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						GAGAGAGCGCGGAGAGCCGTT	0.363													A	100266104	G	A	100266104	3	1	131	1	0	0	0	0	1	0	0	0	358	1116	39	1	2564	1	AFF3	2	100266104	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	207184	100266104	142933269	269	76444											
NMS	129521	broad.mit.edu	37	chr2	101090004	101090005	+	Splice_Site	INS	-	-	A													tttctcgccaacctaaggtaINSaaaaaatgtgtatatatata							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:101090003_101090004T>TA	uc002tan.1	+	3	190	c.183_splice	c.e3+2	p.K61_splice		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	Homo sapiens neuromedin S (NMS), mRNA.	61					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CAACCTAAGGTAAAAAAatgtg	0.342													A	101090005	-	A	101090004	8	5	131	1	0	1	1	0	0	0	1	0	10502	377	13	0		0	NMS	2	101090004	Splice_Site	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	823900	101090004	142109369	270	76445											
PDCL3	79031	broad.mit.edu	37	chr2	101192912	101192912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgttgctgtcctcagtgcGgcgctctgtcctcatgaaga	12	12	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:101192912G>A	uc002tao.2	+	6	786	c.674G>A	c.(673-675)CGG>CAG	p.R225Q		NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	225					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding				0						TCCTCAGTGCGGCGCTCTGTC	0.478													A	101192912	G	A	101192912	3	1	131	1	0	0	0	0	1	0	0	0	11628	1116	39	1	696	1	PDCL3	2	101192912	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	102908	101192912	142006461	271	76446											
RNF149	284996	broad.mit.edu	37	chr2	101924991	101924991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcacagggccagggcgagCaacgccagagccaacacgcc	13	16	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:101924991C>T	uc002taz.1	-	1	162	c.60G>A	c.(58-60)TTG>TTA	p.L20L	RNF149_uc002tax.1_RNA	NM_173647	NP_775918	Q8NC42	RN149_HUMAN	ring finger protein 149 precursor	20						integral to membrane	ligase activity|zinc ion binding			ovary(1)|breast(1)	2						CCAGGGCGAGCAACGCCAGAG	0.607													T	101924991	C	T	101924991	2	4	131	1	0	0	0	0	0	0	0	1	13450	709	25	2		2	RNF149	2	101924991	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	732079	101924991	141274382	272	76447											
IL1R2	7850	broad.mit.edu	37	chr2	102641036	102641036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaggtgtttctgggaaccGgcacacccttaaccaccatg	10	12	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:102641036G>A	uc002tbm.2	+	7	1022	c.793G>A	c.(793-795)GGC>AGC	p.G265S	IL1R2_uc002tbn.2_Missense_Mutation_p.G265S|IL1R2_uc002tbo.1_Missense_Mutation_p.G265S	NM_004633	NP_004624	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II precursor	265	Extracellular (Potential).|Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			ovary(1)|breast(1)	2					Anakinra(DB00026)	TCTGGGAACCGGCACACCCTT	0.607													A	102641036	G	A	102641036	3	1	131	1	0	0	0	0	1	0	0	0	7659	1116	39	1	815	1	IL1R2	2	102641036	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	716045	102641036	140558337	273	76448											
RANBP2	5903	broad.mit.edu	37	chr2	109381658	109381658	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgcagttcatgcttagtgCgaaatgaagcaaatgctaca	9	7	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:109381658C>T	uc002tem.3	+	20	4789	c.4663C>T	c.(4663-4665)CGA>TGA	p.R1555*		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1555	RanBP2-type 4.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						ATGCTTAGTGCGAAATGAAGC	0.403													T	109381658	C	T	109381658	4	4	131	1	0	0	0	0	0	1	0	0	13028	760	27	1	4741	1	RANBP2	2	109381658	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	6740622	109381658	133817715	274	76449											
SH3RF3	344558	broad.mit.edu	37	chr2	110015252	110015252	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacgccactccttcaccgcGctcagtgtgacgcacagatc	8	16	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:110015252G>A	uc010ywt.1	+	4	1152	c.1152G>A	c.(1150-1152)GCG>GCA	p.A384A		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	384							zinc ion binding			ovary(1)	1						CCTTCACCGCGCTCAGTGTGA	0.597													A	110015252	G	A	110015252	2	1	131	1	0	0	0	0	0	0	0	1	14260	1074	38	1		1	SH3RF3	2	110015252	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	633594	110015252	133184121	275	76450											
PTPN4	5775	broad.mit.edu	37	chr2	120672766	120672767	+	Frame_Shift_Ins	INS	-	-	A													ttgtccaggttgaagattgtINSaaaaatttcttttaagtgca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:120672766_120672767insA	uc002tmf.1	+	11	1547_1548	c.776_777insA	c.(775-777)GTAfs	p.V259fs	PTPN4_uc010flj.1_5'UTR	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	259	FERM.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	TTGAAGATTGTAAAAATTTCTT	0.218													A	120672767	-	A	120672766	7	5	131	1	0	1	1	0	0	0	0	0	12790	1638	57	0	814	0	PTPN4	2	120672766	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	10657514	120672766	122526607	276	76451	351	2									
PTPN4	5775	broad.mit.edu	37	chr2	120672767	120672768	+	Frame_Shift_Ins	INS	-	-	A													tgtccaggttgaagattgtaINSaaaatttcttttaagtgcaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:120672766_120672767T>TA	uc002tmf.1	+	10	1547_1548	c.776_777T>TA	c.(775-777)gtafs	p.V259fs	PTPN4_uc010flj.1_5'UTR	NM_002830	NP_002821	P29074	PTN4_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA.	259	FERM.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTGAAGATTGTAAAAATTTCTT	0.218													A	120672768	-	A	120672767	7	5	131	1	0	1	1	0	0	0	0	0	12790	349	13	0	815	0	PTPN4	2	120672767	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	120672767	122526606	277	76452	351	2									
TSN	7247	broad.mit.edu	37	chr2	122514875	122514875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagagattttaactctactGcaaggggtccatcagggtgc	12	9	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:122514875G>A	uc002tnl.2	+	2	361	c.126G>A	c.(124-126)CTG>CTA	p.L42L	TSN_uc002tnm.2_5'UTR|TSN_uc010yze.1_Silent_p.L42L|TSN_uc010flt.2_Intron	NM_004622	NP_004613	Q15631	TSN_HUMAN	translin	42					DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			breast(2)|large_intestine(1)	3		Ovarian(717;0.0563)|Prostate(154;0.116)				TAACTCTACTGCAAGGGGTCC	0.363													A	122514875	G	A	122514875	2	1	131	1	0	0	0	0	0	0	0	1	16626	1306	46	2		2	TSN	2	122514875	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1842108	122514875	120684498	278	76453											
TSN	7247	broad.mit.edu	37	chr2	122522936	122522936	+	Frame_Shift_Del	DEL	A	A	-													gacggcagcagcttgtgttgAaaaataggaggctctccttg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:122522936delA	uc002tnl.2	+	6	915	c.680delA	c.(679-681)GAAfs	p.E227fs	TSN_uc002tnm.2_Frame_Shift_Del_p.E180fs|TSN_uc010yze.1_3'UTR|TSN_uc010flt.2_RNA	NM_004622	NP_004613	Q15631	TSN_HUMAN	translin	227					DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			breast(2)|large_intestine(1)	3		Ovarian(717;0.0563)|Prostate(154;0.116)				GCTTGTGTTGAAAAATAGGAG	0.512													-	122522936	A	-	122522936	7	5	131	1	0	1	0	1	0	0	0	0	16626	246	9	0	702	0	TSN	2	122522936	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	8061	122522936	120676437	279	76454											
MYO7B	4648	broad.mit.edu	37	chr2	128394393	128394393	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaccacctatcccttcAccaagatctccagctggagc	6	17	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:128394393A>G	uc002top.2	+	46	6207	c.6154A>G	c.(6154-6156)ACC>GCC	p.T2052A	MYO7B_uc002tos.1_Missense_Mutation_p.T162A|MYO7B_uc002tot.2_Missense_Mutation_p.T162A	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	2052	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTATCCCTTCACCAAGATCTC	0.667													G	128394393	A	G	128394393	3	3	131	1	0	0	0	0	1	0	0	0	10083	159	6	3	6332	3	MYO7B	2	128394393	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	5871457	128394393	114804980	280	76455											
HS6ST1	9394	broad.mit.edu	37	chr2	129026306	129026306	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtgccctcgtagcagggCggcagctcctcaggcgtggg	16	14	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:129026306C>T	uc002tpt.3	-	2	700	c.666G>A	c.(664-666)CCG>CCA	p.P222P		NM_004807	NP_004798	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	222	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			pancreas(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CGTAGCAGGGCGGCAGCTCCT	0.662													T	129026306	C	T	129026306	2	4	131	1	0	0	0	0	0	0	0	1	7370	755	27	1		1	HS6ST1	2	129026306	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	631913	129026306	114173067	281	76456											
NCKAP5	344148	broad.mit.edu	37	chr2	133751755	133751755	+	Frame_Shift_Del	DEL	T	T	-													attatattaacagtttcttcTtttttctgctctggagatcc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:133751755delT	uc002ttp.2	-	7	773	c.399delA	c.(397-399)AAAfs	p.K133fs	NCKAP5_uc002ttq.2_Frame_Shift_Del_p.K133fs|NCKAP5_uc002tts.1_Frame_Shift_Del_p.K108fs	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	133	Potential.						protein binding				0						CAGTTTCTTCTTTTTTCTGCT	0.343													-	133751755	T	-	133751755	7	5	131	1	0	1	0	1	0	0	0	0	10223	1606	56	0	5386	0	NCKAP5	2	133751755	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	4725449	133751755	109447618	282	76457											
LCT	3938	broad.mit.edu	37	chr2	136547367	136547367	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtccaccttgtcctgcacAgctgctcaaacacagaggac	9	14	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:136547367A>C	uc002tuu.1	-	16	5348	c.5337T>G	c.(5335-5337)GCT>GCG	p.A1779A		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1779	Extracellular (Potential).|4.|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGTCCTGCACAGCTGCTCAAA	0.522													C	136547367	A	C	136547367	2	2	131	1	0	0	0	0	0	0	0	1	8693	202	7	5		5	LCT	2	136547367	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	2795612	136547367	106652006	283	76458											
GTDC1	79712	broad.mit.edu	37	chr2	144899478	144899478	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaggaaacctgatgggaaaGtaaataacttggcacttggg	12	6	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:144899478G>T	uc002tvp.2	-	6	771	c.492C>A	c.(490-492)TAC>TAA	p.Y164*	GTDC1_uc002tvo.2_Nonsense_Mutation_p.Y164*|GTDC1_uc002tvq.2_Nonsense_Mutation_p.Y164*|GTDC1_uc002tvr.2_Nonsense_Mutation_p.Y164*|GTDC1_uc010fnn.2_Nonsense_Mutation_p.Y164*|GTDC1_uc002tvs.2_Nonsense_Mutation_p.Y132*|GTDC1_uc010fno.2_Nonsense_Mutation_p.Y35*|GTDC1_uc002tvt.1_Nonsense_Mutation_p.Y164*	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	164					biosynthetic process		transferase activity, transferring glycosyl groups			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TGATGGGAAAGTAAATAACTT	0.373													T	144899478	G	T	144899478	4	4	131	1	0	0	0	0	0	1	0	0	6851	1024	36	5	912	5	GTDC1	2	144899478	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	8352111	144899478	98299895	284	76459											
RIF1	55183	broad.mit.edu	37	chr2	152324641	152324643	+	In_Frame_Del	DEL	CTC	CTC	-													aggaaaaagtgttaaaacttCtcctactacacaatctaagg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:152324640_152324642TCTC>T	uc002txm.3	+	30	6888_6890	c.6727_6729TCTC>T	c.(6727-6729)tct>T	p.S2243del	RIF1_uc002txn.3_In_Frame_Del_p.S2243del|RIF1_uc002txl.3_In_Frame_Del_p.S2243del|RIF1_uc002txo.3_In_Frame_Del_p.S2243del|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	2243	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGTTAAAACTTCTCCTACTACAC	0.345													-	152324643	CTC	-	152324641	7	5	131	1	0	1	0	1	0	0	0	0	13359	913	32	0	6846	0	RIF1	2	152324641	In_Frame_Del	DEL	CTC	TCGA-BR-A4QL-01A-31D-A25D-08	7425163	152324641	90874732	285	76460											
GPD2	2820	broad.mit.edu	37	chr2	157352618	157352618	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagttaacagggagcctccTtccagagaagctcagctact	9	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:157352618T>C	uc002tzf.3	+	3	525	c.165T>C	c.(163-165)CCT>CCC	p.P55P	GPD2_uc010zch.1_Intron|GPD2_uc002tzd.3_Silent_p.P55P	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	55					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1						GGGAGCCTCCTTCCAGAGAAG	0.453													C	157352618	T	C	157352618	2	2	131	1	0	0	0	0	0	0	0	1	6606	1596	56	3		3	GPD2	2	157352618	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	5027977	157352618	85846755	286	76461											
CCDC148	130940	broad.mit.edu	37	chr2	159077162	159077162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttcagttcttctagacGctgaagatctctcatttcca	5	11	6	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:159077162G>A	uc002tzq.2	-	11	1578	c.1315C>T	c.(1315-1317)CGT>TGT	p.R439C	CCDC148_uc002tzr.2_Missense_Mutation_p.R287C|CCDC148_uc010foh.2_Missense_Mutation_p.R152C	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	439										ovary(2)	2						TCTTCTAGACGCTGAAGATCT	0.313													A	159077162	G	A	159077162	3	1	131	1	0	0	0	0	1	0	0	0	2782	1087	38	1	476	1	CCDC148	2	159077162	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1724544	159077162	84122211	287	76462											
TANC1	85461	broad.mit.edu	37	chr2	160080864	160080864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtggcgctactcagaaaggGagccaagttaggtcagtgag	16	7	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:160080864G>A	uc002uag.2	+	23	4074	c.3800G>A	c.(3799-3801)GGA>GAA	p.G1267E	TANC1_uc010zcm.1_Missense_Mutation_p.G1259E|TANC1_uc010fom.1_Missense_Mutation_p.G1073E|TANC1_uc010fon.2_Missense_Mutation_p.G111E	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1267	ANK 11.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						CTCAGAAAGGGAGCCAAGTTA	0.597													A	160080864	G	A	160080864	3	1	131	1	0	0	0	0	1	0	0	0	15541	1174	41	4	3882	4	TANC1	2	160080864	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1003702	160080864	83118509	288	76463											
LY75	4065	broad.mit.edu	37	chr2	160667123	160667123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccttgtactggatccacCgtgacccattctcttttgct	7	14	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:160667123C>T	uc002ubc.3	-	32	4682	c.4613G>A	c.(4612-4614)CGG>CAG	p.R1538Q	LY75_uc002ubb.3_Missense_Mutation_p.R1538Q|LY75_uc010fos.2_Missense_Mutation_p.R1538Q	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	1538	Extracellular (Potential).				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		CTGGATCCACCGTGACCCATT	0.393													T	160667123	C	T	160667123	3	4	131	1	0	0	0	0	1	0	0	0	9099	652	23	1	571	1	LY75	2	160667123	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	586259	160667123	82532250	289	76464											
DPP4	1803	broad.mit.edu	37	chr2	162875265	162875265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcagctgataatacttcGcctctttactgaatgacaca	5	11	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:162875265G>A	uc002ubz.2	-	16	1955	c.1394C>T	c.(1393-1395)GCG>GTG	p.A465V	DPP4_uc010fpb.2_Missense_Mutation_p.A141V	NM_001935	NP_001926	P27487	DPP4_HUMAN	dipeptidylpeptidase IV	465	Extracellular (Potential).				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			ovary(3)	3					Sitagliptin(DB01261)	ATAATACTTCGCCTCTTTACT	0.473													A	162875265	G	A	162875265	3	1	131	1	0	0	0	0	1	0	0	0	4729	1087	38	1	950	1	DPP4	2	162875265	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2208142	162875265	80324108	290	76465											
TTC21B	79809	broad.mit.edu	37	chr2	166740436	166740436	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atagcattccaattcattttCgcaatacgcttcagctggtt	6	10	2	0	rs148113339	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:166740436C>T	uc002udk.2	-	26	3685	c.3552G>A	c.(3550-3552)GCG>GCA	p.A1184A	TTC21B_uc002udj.1_RNA	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1184						cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						AATTCATTTTCGCAATACGCT	0.423													T	166740436	C	T	166740436	2	4	131	1	0	0	0	0	0	0	0	1	16685	871	31	1		1	TTC21B	2	166740436	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3865171	166740436	76458937	291	76466											
SCN1A	6323	broad.mit.edu	37	chr2	166908335	166908335	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctatactatgttcctccaaGgaagcattggtgggaggcca	11	9	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:166908335G>A	uc010zcz.1	-	6	876	c.858C>T	c.(856-858)TCC>TCT	p.S286S	SCN1A_uc002udo.3_Silent_p.S155S|SCN1A_uc010fpk.2_Silent_p.S155S	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	286	I.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTTCCTCCAAGGAAGCATTGG	0.383													A	166908335	G	A	166908335	2	1	131	1	0	0	0	0	0	0	0	1	13914	987	35	4		4	SCN1A	2	166908335	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	167899	166908335	76291038	292	76467											
FASTKD1	79675	broad.mit.edu	37	chr2	170393848	170393848	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttccatccatgccaccaaTacctttataaaaaaataaat	2	10	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:170393848T>C	uc002uev.3	-	12	2465	c.2077A>G	c.(2077-2079)ATT>GTT	p.I693V	FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.I636V	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	693					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(4)	4						ATGCCACCAATACCtttataa	0.229													C	170393848	T	C	170393848	3	2	131	1	0	0	0	0	1	0	0	0	5685	1406	49	3	482	3	FASTKD1	2	170393848	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	3485513	170393848	72805525	293	76468											
CYBRD1	79901	broad.mit.edu	37	chr2	172379172	172379172	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactaccgagaggggcttggCtgggatgggagcgcactaga	17	9	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:172379172C>T	uc002ugy.3	+	1	307	c.117C>T	c.(115-117)GGC>GGT	p.G39G	CYBRD1_uc002ugz.3_Silent_p.G39G	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1 isoform 1	39	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding				0						AGGGGCTTGGCTGGGATGGGA	0.642													T	172379172	C	T	172379172	2	4	131	1	0	0	0	0	0	0	0	1	4134	784	28	2		2	CYBRD1	2	172379172	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1985324	172379172	70820201	294	76469											
ATF2	1386	broad.mit.edu	37	chr2	175962206	175962206	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggatgtggctggctgttgtAatgactgcggtcgagattcc	15	7	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:175962206A>T	uc002ujl.2	-	11	1206	c.944T>A	c.(943-945)TTA>TAA	p.L315*	ATF2_uc010fqv.2_Nonsense_Mutation_p.L266*|ATF2_uc002ujv.2_Nonsense_Mutation_p.L62*|ATF2_uc002ujm.2_Nonsense_Mutation_p.L257*|ATF2_uc002ujn.2_RNA|ATF2_uc002ujo.2_Intron|ATF2_uc002ujp.2_RNA|ATF2_uc002ujq.2_Nonsense_Mutation_p.L315*|ATF2_uc002ujr.2_RNA|ATF2_uc010fqu.2_Nonsense_Mutation_p.L297*|ATF2_uc002ujs.2_Nonsense_Mutation_p.L257*|ATF2_uc002ujt.2_RNA|ATF2_uc002uju.2_RNA|ATF2_uc002ujw.1_Nonsense_Mutation_p.L257*|ATF2_uc002ujx.1_RNA	NM_001880	NP_001871	P15336	ATF2_HUMAN	activating transcription factor 2	315					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(1)|breast(1)|pancreas(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.125)			TGGCTGTTGTAATGACTGCGG	0.433													T	175962206	A	T	175962206	4	4	131	1	0	0	0	0	0	1	0	0	1080	372	13	5	589	5	ATF2	2	175962206	Nonsense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	3583034	175962206	67237167	295	76470											
EVX2	344191	broad.mit.edu	37	chr2	176947159	176947159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgtcgtggtgccggcagccGagccgctctctgcgtaccct	13	16	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:176947159G>A	uc010zeu.1	-	2	632	c.446C>T	c.(445-447)TCG>TTG	p.S149L		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	149						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GCCGGCAGCCGAGCCGCTCTC	0.721													A	176947159	G	A	176947159	3	1	131	1	0	0	0	0	1	0	0	0	5295	1059	37	1	990	1	EVX2	2	176947159	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	984953	176947159	66252214	296	76471											
HOXD4	3233	broad.mit.edu	37	chr2	177017378	177017378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacccaagcggtcccgaaCggcctacacccggcagcaag	12	16	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:177017378C>T	uc002uks.2	+	2	725	c.476C>T	c.(475-477)ACG>ATG	p.T159M		NM_014621	NP_055436	P09016	HXD4_HUMAN	homeobox D4	159	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CGGTCCCGAACGGCCTACACC	0.557													T	177017378	C	T	177017378	3	4	131	1	0	0	0	0	1	0	0	0	7324	536	19	1	482	1	HOXD4	2	177017378	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	70219	177017378	66181995	297	76472											
HOXD3	3232	broad.mit.edu	37	chr2	177036848	177036848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggccacctctcgcaccCgtcgtcggccagcgtggact	12	18	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:177036848C>T	uc002ukt.1	+	3	1321	c.1145C>T	c.(1144-1146)CCG>CTG	p.P382L		NM_006898	NP_008829	P31249	HXD3_HUMAN	homeobox D3	382					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CTCTCGCACCCGTCGTCGGCC	0.662													T	177036848	C	T	177036848	3	4	131	1	0	0	0	0	1	0	0	0	7323	652	23	1	1151	1	HOXD3	2	177036848	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	19470	177036848	66162525	298	76473											
HOXD1	3231	broad.mit.edu	37	chr2	177054164	177054164	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgagtggatgaaagtgaagaGgaatgcctctaagaaaggta	14	4	1	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:177054164G>T	uc002ukv.3	+	1	858	c.635G>T	c.(634-636)AGG>ATG	p.R212M	HOXD1_uc010fqy.2_Missense_Mutation_p.R212M|HOXD1_uc010zez.1_Missense_Mutation_p.R212M	NM_024501	NP_078777	Q9GZZ0	HXD1_HUMAN	homeobox D1	212						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		AAAGTGAAGAGGAATGCCTCT	0.662													T	177054164	G	T	177054164	3	4	131	1	0	0	0	0	1	0	0	0	7318	1000	35	5	637	5	HOXD1	2	177054164	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	17316	177054164	66145209	299	76474											
TTC30B	150737	broad.mit.edu	37	chr2	178416830	178416830	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacacctagctcagggtgcTggcggatgccacgctcaata	11	14	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:178416830T>C	uc002uln.2	-	1	695	c.662A>G	c.(661-663)CAG>CGG	p.Q221R	TTC30B_uc010zfc.1_5'UTR	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	221	TPR 4.				cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTCAGGGTGCTGGCGGATGCC	0.537													C	178416830	T	C	178416830	3	2	131	1	0	0	0	0	1	0	0	0	16696	1580	55	3	1339	3	TTC30B	2	178416830	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1362666	178416830	64782543	300	76475											
TTN	7273	broad.mit.edu	37	chr2	179396497	179396497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatggtaccctgtgcgagcGcattctcagtgtgattcgag	12	10	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:179396497G>A	uc010zfg.1	-	307	97365	c.97141C>T	c.(97141-97143)CGC>TGC	p.R32381C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R26076C|TTN_uc010zfi.1_Missense_Mutation_p.R26009C|TTN_uc010zfj.1_Missense_Mutation_p.R25884C|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33308							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTGCGAGCGCATTCTCAGT	0.443													A	179396497	G	A	179396497	3	1	131	1	0	0	0	0	1	0	0	0	16732	1087	38	1	3154	1	TTN	2	179396497	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	979667	179396497	63802876	301	76476											
TTN	7273	broad.mit.edu	37	chr2	179436014	179436014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagaggatgctatttctttCcttgcgttctagatgatagc	9	9	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:179436014C>T	uc010zfg.1	-	275	67365	c.67141G>A	c.(67141-67143)GAA>AAA	p.E22381K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E16076K|TTN_uc010zfi.1_Missense_Mutation_p.E16009K|TTN_uc010zfj.1_Missense_Mutation_p.E15884K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23308							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATTTCTTTCCTTGCGTTCT	0.413													T	179436014	C	T	179436014	3	4	131	1	0	0	0	0	1	0	0	0	16732	864	30	4	33282	4	TTN	2	179436014	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	39517	179436014	63763359	302	76477											
TTN	7273	broad.mit.edu	37	chr2	179454179	179454179	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttctttcacaacaacttccTctgtcttcacccagtcactt	2	16	6	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:179454179T>A	uc010zfg.1	-	253	54793	c.54569A>T	c.(54568-54570)GAG>GTG	p.E18190V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E11885V|TTN_uc010zfi.1_Missense_Mutation_p.E11818V|TTN_uc010zfj.1_Missense_Mutation_p.E11693V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19117							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACAACTTCCTCTGTCTTCAC	0.423													A	179454179	T	A	179454179	3	1	131	1	0	0	0	0	1	0	0	0	16732	1551	54	5	45942	5	TTN	2	179454179	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	18165	179454179	63745194	303	76478											
TTN	7273	broad.mit.edu	37	chr2	179463736	179463736	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcccagttgacagtcaTggagttacgagtcacgctgc	10	12	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:179463736T>C	uc010zfg.1	-	240	49221	c.48997A>G	c.(48997-48999)ATG>GTG	p.M16333V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.M10028V|TTN_uc010zfi.1_Missense_Mutation_p.M9961V|TTN_uc010zfj.1_Missense_Mutation_p.M9836V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17260							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGACAGTCATGGAGTTACGA	0.418													C	179463736	T	C	179463736	3	2	131	1	0	0	0	0	1	0	0	0	16732	1464	51	3	51280	3	TTN	2	179463736	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	9557	179463736	63735637	304	76479											
ZNF385B	151126	broad.mit.edu	37	chr2	180348060	180348060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgggattagcctttgcGctgtccttggaaggaaccat	12	10	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:180348060G>A	uc002unn.3	-	6	1213	c.609C>T	c.(607-609)AGC>AGT	p.S203S	ZNF385B_uc002unj.2_Silent_p.S101S|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Silent_p.S100S|ZNF385B_uc002unm.2_Silent_p.S127S	NM_152520	NP_689733	Q569K4	Z385B_HUMAN	zinc finger protein 385B isoform 1	203						nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TAGCCTTTGCGCTGTCCTTGG	0.453													A	180348060	G	A	180348060	2	1	131	1	0	0	0	0	0	0	0	1	17874	1078	38	1		1	ZNF385B	2	180348060	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	884324	180348060	62851313	305	76480											
ZNF804A	91752	broad.mit.edu	37	chr2	185801480	185801480	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atacaactacgaaaccatcaAtttcctatagctgtaatcct	3	11	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:185801480A>C	uc002uph.2	+	4	1951	c.1357A>C	c.(1357-1359)ATT>CTT	p.I453L		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	453						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						GAAACCATCAATTTCCTATAG	0.338													C	185801480	A	C	185801480	3	2	131	1	0	0	0	0	1	0	0	0	18167	101	4	5	1371	5	ZNF804A	2	185801480	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	5453420	185801480	57397893	306	76481											
FAM171B	165215	broad.mit.edu	37	chr2	187626790	187626790	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttagtctatggccaattgaTggaaccagtaaatcgagaga	11	6	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:187626790T>C	uc002ups.2	+	8	1833	c.1721T>C	c.(1720-1722)ATG>ACG	p.M574T	FAM171B_uc002upr.1_Missense_Mutation_p.M541T|FAM171B_uc002upt.2_Missense_Mutation_p.M43T	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	574	Cytoplasmic (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						GGCCAATTGATGGAACCAGTA	0.443													C	187626790	T	C	187626790	3	2	131	1	0	0	0	0	1	0	0	0	5491	1464	51	3	1751	3	FAM171B	2	187626790	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1825310	187626790	55572583	307	76482											
GTF3C3	9330	broad.mit.edu	37	chr2	197636558	197636558	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctgggtttttcagcatcAaacggagacagaagcgatga	11	7	3	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:197636558A>G	uc002uts.2	-	15	2264	c.2174T>C	c.(2173-2175)TTG>TCG	p.L725S	GTF3C3_uc010zgu.1_Missense_Mutation_p.L696S	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	725						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						TTTCAGCATCAAACGGAGACA	0.418													G	197636558	A	G	197636558	3	3	131	1	0	0	0	0	1	0	0	0	6874	131	5	3	502	3	GTF3C3	2	197636558	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	10009768	197636558	45562815	308	76483											
MARS2	92935	broad.mit.edu	37	chr2	198571099	198571099	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatctattggcctgccttcCtgttaggggccggcatgagc	12	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:198571099C>A	uc002uuq.2	+	1	1013	c.970C>A	c.(970-972)CTG>ATG	p.L324M	uc002uup.2_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	methionine-tRNA synthetase 2 precursor	324					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3					L-Methionine(DB00134)	GCCTGCCTTCCTGTTAGGGGC	0.537													A	198571099	C	A	198571099	3	1	131	1	0	0	0	0	1	0	0	0	9317	680	24	5	972	5	MARS2	2	198571099	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	934541	198571099	44628274	309	76484											
SATB2	23314	broad.mit.edu	37	chr2	200137060	200137060	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgactcggtcagcagctcCtcgtccttatattcagccac	7	15	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:200137060C>A	uc002uuy.1	-	11	2893	c.2076G>T	c.(2074-2076)GAG>GAT	p.E692D	SATB2_uc010fsq.1_Missense_Mutation_p.E574D|SATB2_uc002uuz.1_Missense_Mutation_p.E692D|SATB2_uc002uva.1_Missense_Mutation_p.E692D	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	692						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						TCAGCAGCTCCTCGTCCTTAT	0.557													A	200137060	C	A	200137060	3	1	131	1	0	0	0	0	1	0	0	0	13854	680	24	5	129	5	SATB2	2	200137060	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1565961	200137060	43062313	310	76485											
ALS2CR4	65062	broad.mit.edu	37	chr2	202488987	202488987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagctggtattatgaagaGgctttgatttctttctcttt	10	5	2	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:202488987G>A	uc002uyh.1	-	14	1319	c.1218C>T	c.(1216-1218)GCC>GCT	p.A406A	ALS2CR4_uc002uyg.1_Silent_p.A398A|ALS2CR4_uc010zho.1_Silent_p.A201A	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	430						integral to membrane	protein binding				0						ATTATGAAGAGGCTTTGATTT	0.328													A	202488987	G	A	202488987	2	1	131	1	0	0	0	0	0	0	0	1	554	987	35	4		4	ALS2CR4	2	202488987	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2351927	202488987	40710386	311	76486											
INO80D	54891	broad.mit.edu	37	chr2	206869880	206869883	+	Frame_Shift_Del	DEL	AAGT	AAGT	-													ctggctgatcagagtggcagAagtaaggccaacgttggctg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:206869879_206869882GAAGT>G	uc002vaz.4	-	10	2699_2702	c.2294_2297ACTTC>C	c.(2293-2298)acttctfs	p.T765fs		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	765					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CAGAGTGGCAGAAGTAAGGCCAAC	0.583													-	206869883	AAGT	-	206869880	7	5	131	1	0	1	0	1	0	0	0	0	7749	246	9	0	791	0	INO80D	2	206869880	Frame_Shift_Del	DEL	AAGT	TCGA-BR-A4QL-01A-31D-A25D-08	4380893	206869880	36329493	312	76487											
INO80D	54891	broad.mit.edu	37	chr2	206872047	206872047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaagtcatcaggtagccGtggcaggacatctgaaaagt	12	7	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:206872047G>A	uc002vaz.3	-	10	2284	c.1879C>T	c.(1879-1881)CGG>TGG	p.R627W		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	627					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						TCAGGTAGCCGTGGCAGGACA	0.383													A	206872047	G	A	206872047	3	1	131	1	0	0	0	0	1	0	0	0	7749	1144	40	1	1212	1	INO80D	2	206872047	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2167	206872047	36327326	313	76488											
MDH1B	130752	broad.mit.edu	37	chr2	207611098	207611098	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaaccacccaagttccattCtcaaatttcacaggcataga	5	12	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:207611098C>A	uc002vbs.2	-	8	1324	c.1269G>T	c.(1267-1269)GAG>GAT	p.E423D	MDH1B_uc010ziw.1_RNA|MDH1B_uc010fui.2_Missense_Mutation_p.E423D|MDH1B_uc010fuj.2_Missense_Mutation_p.E325D|MDH1B_uc002vbt.2_RNA	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	423					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			ovary(3)|kidney(1)	4				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AAGTTCCATTCTCAAATTTCA	0.393													A	207611098	C	A	207611098	3	1	131	1	0	0	0	0	1	0	0	0	9409	912	32	5	307	5	MDH1B	2	207611098	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	739051	207611098	35588275	314	76489											
CRYGC	1420	broad.mit.edu	37	chr2	208993062	208993062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagctcgtagaggacccaGcagccctccagcacgtggag	14	14	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:208993062G>A	uc002vco.3	-	3	428	c.390C>T	c.(388-390)TGC>TGT	p.C130C		NM_020989	NP_066269	P07315	CRGC_HUMAN	crystallin, gamma C	130	Beta/gamma crystallin 'Greek key' 4.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens				0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		AGAGGACCCAGCAGCCCTCCA	0.632													A	208993062	G	A	208993062	2	1	131	1	0	0	0	0	0	0	0	1	3916	963	34	2		2	CRYGC	2	208993062	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1381964	208993062	34206311	315	76490											
CRYGB	1419	broad.mit.edu	37	chr2	209010699	209010699	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagtcagtggtgcattcGtagctgcggccctggaaggc	17	10	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:209010699G>A	uc002vcp.3	-	2	84	c.51C>T	c.(49-51)TAC>TAT	p.Y17Y		NM_005210	NP_005201	P07316	CRGB_HUMAN	crystallin, gamma B	17	Beta/gamma crystallin 'Greek key' 1.				visual perception		structural constituent of eye lens				0				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		TGGTGCATTCGTAGCTGCGGC	0.567													A	209010699	G	A	209010699	2	1	131	1	0	0	0	0	0	0	0	1	3915	1140	40	1		1	CRYGB	2	209010699	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	17637	209010699	34188674	316	76491											
MAP2	4133	broad.mit.edu	37	chr2	210560785	210560785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcactgtagtgcaaacCacaactgatgaaggggagtc	10	9	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:210560785C>T	uc002vde.1	+	7	4139	c.3891C>T	c.(3889-3891)ACC>ACT	p.T1297T	MAP2_uc002vdc.1_Silent_p.T1297T|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.T1293T	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1297					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TAGTGCAAACCACAACTGATG	0.512													T	210560785	C	T	210560785	2	4	131	1	0	0	0	0	0	0	0	1	9235	581	21	4		4	MAP2	2	210560785	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1550086	210560785	32638588	317	76492											
CPS1	1373	broad.mit.edu	37	chr2	211464228	211464228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcacagaggtcatcaagGcagaacagccagatgggtta	12	8	3	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:211464228G>A	uc002vee.3	+	14	1624	c.1492G>A	c.(1492-1494)GCA>ACA	p.A498T	CPS1_uc010fur.2_Missense_Mutation_p.A504T|CPS1_uc010fus.2_Missense_Mutation_p.A47T	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	498					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGTCATCAAGGCAGAACAGCC	0.468													A	211464228	G	A	211464228	3	1	131	1	0	0	0	0	1	0	0	0	3823	1203	42	2	1568	2	CPS1	2	211464228	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	903443	211464228	31735145	318	76493											
ATIC	471	broad.mit.edu	37	chr2	216209520	216209520	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgccagagtctgccctcCgagacctcatcgtagccacc	9	16	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:216209520C>T	uc002vex.3	+	13	1420	c.1246C>T	c.(1246-1248)CGA>TGA	p.R416*	ATIC_uc010zjo.1_Nonsense_Mutation_p.R357*|ATIC_uc002vey.3_Nonsense_Mutation_p.R415*	NM_004044	NP_004035	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide	416					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	GTCTGCCCTCCGAGACCTCAT	0.433			T	ALK	ALCL								T	216209520	C	T	216209520	4	4	131	1	0	0	0	0	0	1	0	0	1105	644	23	1	1296	1	ATIC	2	216209520	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4745292	216209520	26989853	319	76494											
FN1	2335	broad.mit.edu	37	chr2	216286852	216286852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgcatgtccattccccaCgaccattcccaacacacgtg	5	17	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:216286852C>T	uc002vfa.2	-	10	1774	c.1508G>A	c.(1507-1509)CGT>CAT	p.R503H	FN1_uc002vfb.2_Missense_Mutation_p.R503H|FN1_uc002vfc.2_Missense_Mutation_p.R503H|FN1_uc002vfd.2_Missense_Mutation_p.R503H|FN1_uc002vfe.2_Missense_Mutation_p.R503H|FN1_uc002vff.2_Missense_Mutation_p.R503H|FN1_uc002vfg.2_Missense_Mutation_p.R503H|FN1_uc002vfh.2_Missense_Mutation_p.R503H|FN1_uc002vfi.2_Missense_Mutation_p.R503H|FN1_uc002vfj.2_Missense_Mutation_p.R503H|FN1_uc002vfl.2_Missense_Mutation_p.R503H	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	503	Collagen-binding.|Fibronectin type-I 7.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCATTCCCCACGACCATTCCC	0.473													T	216286852	C	T	216286852	3	4	131	1	0	0	0	0	1	0	0	0	5962	536	19	1	6106	1	FN1	2	216286852	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	77332	216286852	26912521	320	76495											
SMARCAL1	50485	broad.mit.edu	37	chr2	217315647	217315647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggaagcagtcatgctgCggcgcctcaagtccgacgtc	14	12	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:217315647C>T	uc002vgc.3	+	12	2260	c.1930C>T	c.(1930-1932)CGG>TGG	p.R644W	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.R644W|SMARCAL1_uc010fvg.2_Missense_Mutation_p.R622W	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	644			R -> W (in SIOD).		chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AGTCATGCTGCGGCGCCTCAA	0.602									Schimke_Immuno-Osseous_Dysplasia				T	217315647	C	T	217315647	3	4	131	1	0	0	0	0	1	0	0	0	14773	759	27	1	1968	1	SMARCAL1	2	217315647	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1028795	217315647	25883726	321	76496											
ARPC2	10109	broad.mit.edu	37	chr2	219110150	219110152	+	In_Frame_Del	DEL	AAG	AAG	-													tttgtcttggcaggagttcaAagaaggacgcagagccagcc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:219110150_219110152delAAG	uc002vhd.2	+	8	669_671	c.557_559delAAG	c.(556-561)AAAGAA>AAA	p.E187del	ARPC2_uc002vhe.2_In_Frame_Del_p.E187del|ARPC2_uc002vhf.2_In_Frame_Del_p.E73del	NM_152862	NP_690601	O15144	ARPC2_HUMAN	actin related protein 2/3 complex subunit 2	187					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		CAGGAGTTCAAAGAAGGACGCAG	0.517													-	219110152	AAG	-	219110150	7	5	131	1	0	1	0	1	0	0	0	0	971	14	1	0	583	0	ARPC2	2	219110150	In_Frame_Del	DEL	AAG	TCGA-BR-A4QL-01A-31D-A25D-08	1794503	219110150	24089223	322	76497											
USP37	57695	broad.mit.edu	37	chr2	219362579	219362579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaagcaagtgtgcaaagcGtctagtaaaacaaaaaacac	7	8	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:219362579G>A	uc002vie.2	-	13	1612	c.1159C>T	c.(1159-1161)CGC>TGC	p.R387C	USP37_uc010fvs.1_Missense_Mutation_p.R387C|USP37_uc010zkf.1_Missense_Mutation_p.R387C|USP37_uc002vif.2_Missense_Mutation_p.R387C|USP37_uc002vig.2_Missense_Mutation_p.R315C	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	387					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TGTGCAAAGCGTCTAGTAAAA	0.323													A	219362579	G	A	219362579	3	1	131	1	0	0	0	0	1	0	0	0	17065	1159	40	1	1836	1	USP37	2	219362579	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	252429	219362579	23836794	323	76498											
ZNF142	7701	broad.mit.edu	37	chr2	219508052	219508052	+	Frame_Shift_Del	DEL	G	G	-													ggacacatcaggctgggtctGgggggtccctcgttttcctc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:219508052delG	uc002vin.2	-	8	3623	c.3187delC	c.(3187-3189)CAGfs	p.Q1063fs	ZNF142_uc002vil.2_Frame_Shift_Del_p.Q1024fs|ZNF142_uc010fvt.2_Frame_Shift_Del_p.Q900fs|ZNF142_uc002vim.2_Frame_Shift_Del_p.Q900fs	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	1063					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGCTGGGTCTGGGGGGTCCCT	0.607													-	219508052	G	-	219508052	7	5	131	1	0	1	0	1	0	0	0	0	17728	1357	47	0	1888	0	ZNF142	2	219508052	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	145473	219508052	23691321	324	76499											
RNF25	64320	broad.mit.edu	37	chr2	219529162	219529162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggcaaagtggattggaCggctggtgaggtggatagtt	19	3	0	1	rs140256402	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:219529162C>T	uc002vit.2	-	10	986	c.898G>A	c.(898-900)GTC>ATC	p.V300I	RNF25_uc010fvw.2_Missense_Mutation_p.V188I	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	300					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGATTGGACGGCTGGTGAG	0.567													T	219529162	C	T	219529162	3	4	131	1	0	0	0	0	1	0	0	0	13485	536	19	1	485	1	RNF25	2	219529162	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	21110	219529162	23670211	325	76500											
ACCN4	55515	broad.mit.edu	37	chr2	220400033	220400033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgaggaagtacaaccgcaacGagacctacatacggtatgtg	11	10	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:220400033G>A	uc002vma.2	+	5	1554	c.1540G>A	c.(1540-1542)GAG>AAG	p.E514K	ACCN4_uc002vlz.2_Missense_Mutation_p.E533K|ACCN4_uc002vmb.2_Missense_Mutation_p.E187K	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN	amiloride-sensitive cation channel 4 isoform 2	514	Extracellular (Potential).					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity			ovary(2)	2		Renal(207;0.0183)		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)		CAACCGCAACGAGACCTACAT	0.398													A	220400033	G	A	220400033	3	1	131	1	0	0	0	0	1	0	0	0	131	1059	37	1	1619	1	ACCN4	2	220400033	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	870871	220400033	22799340	326	76501											
TMEM198	130612	broad.mit.edu	37	chr2	220412523	220412523	+	Frame_Shift_Del	DEL	G	G	-													ggtccactggggctgttgctGgggggcggcctgctctgtgc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:220412523delG	uc002vme.2	+	4	1047	c.462delG	c.(460-462)CTGfs	p.L154fs	TMEM198_uc002vmf.2_Frame_Shift_Del_p.L154fs	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	transmembrane protein 198	154	Helical; (Potential).|Leu-rich.					integral to membrane				ovary(1)	1		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCTGTTGCTGGGGGGCGGCC	0.721													-	220412523	G	-	220412523	7	5	131	1	0	1	0	1	0	0	0	0	16116	1335	47	0	468	0	TMEM198	2	220412523	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	12490	220412523	22786850	327	76502											
SLC4A3	6508	broad.mit.edu	37	chr2	220495067	220495067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttctgcagacctggacgaCatgaagagtgagtgagacct	14	8	1	5			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:220495067C>T	uc002vmp.3	+	6	1073	c.804C>T	c.(802-804)GAC>GAT	p.D268D	SLC4A3_uc002vmn.2_Silent_p.D295D|SLC4A3_uc002vmo.3_Silent_p.D295D|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'Flank	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	268	Cytoplasmic.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTGGACGACATGAAGAGTG	0.637													T	220495067	C	T	220495067	2	4	131	1	0	0	0	0	0	0	0	1	14655	477	17	4		4	SLC4A3	2	220495067	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	82544	220495067	22704306	328	76503											
IRS1	3667	broad.mit.edu	37	chr2	227660270	227660270	+	Frame_Shift_Del	DEL	C	C	-													tgcccccaggtccttgtgggCcccccagcagggacgagtgg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:227660270delC	uc002voh.3	-	1	3237	c.3185delG	c.(3184-3186)GGCfs	p.G1062fs		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	1062					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TCCTTGTGGGCCCCCCAGCAG	0.657													-	227660270	C	-	227660270	7	5	131	1	0	1	0	1	0	0	0	0	7840	739	26	0	547	0	IRS1	2	227660270	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	7165203	227660270	15539103	329	76504											
SPHKAP	80309	broad.mit.edu	37	chr2	228881735	228881735	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaccggatgaggacgcgcTactgaccggctgcacgctta	14	12	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:228881735T>C	uc002vpq.2	-	7	3882	c.3835A>G	c.(3835-3837)AGC>GGC	p.S1279G	SPHKAP_uc002vpp.2_Missense_Mutation_p.S1279G|SPHKAP_uc010zlx.1_Missense_Mutation_p.S1279G	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1279						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGGACGCGCTACTGACCGGC	0.507													C	228881735	T	C	228881735	3	2	131	1	0	0	0	0	1	0	0	0	15047	1522	53	3	1291	3	SPHKAP	2	228881735	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1221465	228881735	14317638	330	76505											
ALPPL2	251	broad.mit.edu	37	chr2	233272672	233272672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacgtgcctgcctcggcccGccaggaggggtgccaggaca	16	15	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:233272672G>A	uc002vss.3	+	5	646	c.593G>A	c.(592-594)CGC>CAC	p.R198H		NM_031313	NP_112603	P10696	PPBN_HUMAN	placental-like alkaline phosphatase	198					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			skin(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GCCTCGGCCCGCCAGGAGGGG	0.672													A	233272672	G	A	233272672	3	1	131	1	0	0	0	0	1	0	0	0	549	1087	38	1	611	1	ALPPL2	2	233272672	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	4390937	233272672	9926701	331	76506											
EFHD1	80303	broad.mit.edu	37	chr2	233546345	233546345	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagcagagttgaaagctgaGcaagatgagcggaagcggga	17	5	0	5			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:233546345G>T	uc002vtc.2	+	4	844	c.636G>T	c.(634-636)GAG>GAT	p.E212D	EFHD1_uc010fyf.2_Missense_Mutation_p.E116D|EFHD1_uc002vtd.2_Missense_Mutation_p.E100D	NM_025202	NP_079478	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	212							calcium ion binding|protein binding				0		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		TGAAAGCTGAGCAAGATGAGC	0.542													T	233546345	G	T	233546345	3	4	131	1	0	0	0	0	1	0	0	0	4948	962	34	5	650	5	EFHD1	2	233546345	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	273673	233546345	9653028	332	76507											
UGT1A5	54579	broad.mit.edu	37	chr2	234681073	234681073	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccagtaccattccttggaCgtgattggtttcctcttggc	9	11	1	1	rs114123636	by1000genomes	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:234681073C>T	uc002vuw.2	+	5	1473	c.1473C>T	c.(1471-1473)GAC>GAT	p.D491D	UGT1A8_uc002vup.2_Silent_p.D487D|UGT1A10_uc002vur.2_Silent_p.D487D|UGT1A9_uc002vus.2_Silent_p.D487D|UGT1A7_uc002vut.2_Silent_p.D487D|UGT1A6_uc002vuu.2_Silent_p.D222D|UGT1A6_uc002vuv.3_Silent_p.D489D|UGT1A4_uc002vux.2_Silent_p.D491D|UGT1A3_uc002vuy.2_Silent_p.D491D|UGT1A9_uc002vva.2_RNA|UGT1A1_uc002vvb.2_Silent_p.D490D	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	491					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		ATTCCTTGGACGTGATTGGTT	0.567													T	234681073	C	T	234681073	2	4	131	1	0	0	0	0	0	0	0	1	16945	535	19	1		1	UGT1A5	2	234681073	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1134728	234681073	8518300	333	76508											
AGAP1	116987	broad.mit.edu	37	chr2	237028996	237028996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggcacacggctcccgggacGaggtgaacgagacctgcggg	17	12	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:237028996G>A	uc002vvs.2	+	17	2870	c.2275G>A	c.(2275-2277)GAG>AAG	p.E759K	AGAP1_uc002vvt.2_Missense_Mutation_p.E706K	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	759					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						CTCCCGGGACGAGGTGAACGA	0.716													A	237028996	G	A	237028996	3	1	131	1	0	0	0	0	1	0	0	0	366	1059	37	1	2341	1	AGAP1	2	237028996	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2347923	237028996	6170377	334	76509											
ESPNL	339768	broad.mit.edu	37	chr2	239013386	239013386	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggcccagttcctggtgaAggactgtggcgctgacgtgc	15	12	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:239013386A>C	uc002vxq.3	+	3	685	c.575A>C	c.(574-576)AAG>ACG	p.K192T		NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	192	ANK 6.									pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TTCCTGGTGAAGGACTGTGGC	0.682													C	239013386	A	C	239013386	3	2	131	1	0	0	0	0	1	0	0	0	5255	72	3	5	585	5	ESPNL	2	239013386	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1984390	239013386	4185987	335	76510											
HDAC4	9759	broad.mit.edu	37	chr2	240056118	240056118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagggtgagtctctcggCgtcctgctggcccgccgtgc	17	13	1	1	rs115644432	by1000genomes	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:240056118C>T	uc002vyk.3	-	11	1909	c.1117G>A	c.(1117-1119)GCC>ACC	p.A373T	HDAC4_uc010fyz.1_Missense_Mutation_p.A368T|HDAC4_uc010zoa.1_Missense_Mutation_p.A368T|HDAC4_uc010fza.2_Missense_Mutation_p.A373T|HDAC4_uc010fyy.2_Missense_Mutation_p.A325T|HDAC4_uc010znz.1_Missense_Mutation_p.A256T|HDAC4_uc010fzb.1_RNA	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	373				A -> T (in Ref. 1; AAD29046 and 2; BAA22957).	B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AGTCTCTCGGCGTCCTGCTGG	0.687													T	240056118	C	T	240056118	3	4	131	1	0	0	0	0	1	0	0	0	7009	768	27	1	2205	1	HDAC4	2	240056118	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1042732	240056118	3143255	336	76511											
KIF1A	547	broad.mit.edu	37	chr2	241658494	241658494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgagcacgaaccgctccaCggtgtccttgtcgctgttgt	12	12	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:241658494C>T	uc002vzy.2	-	45	4986	c.4840G>A	c.(4840-4842)GTG>ATG	p.V1614M	KIF1A_uc010fzk.2_Missense_Mutation_p.V1715M|KIF1A_uc002vzw.2_Missense_Mutation_p.V275M|KIF1A_uc002vzx.2_Missense_Mutation_p.V341M	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	1614	PH.				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)		AACCGCTCCACGGTGTCCTTG	0.657													T	241658494	C	T	241658494	3	4	131	1	0	0	0	0	1	0	0	0	8283	536	19	1	244	1	KIF1A	2	241658494	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1602376	241658494	1540879	337	76512											
PASK	23178	broad.mit.edu	37	chr2	242066771	242066771	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccggggctctctattgccAcaggttcctctctccccaag	9	16	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:242066771A>G	uc002wao.1	-	10	1651	c.1559T>C	c.(1558-1560)GTG>GCG	p.V520A	PASK_uc010zol.1_Missense_Mutation_p.V334A|PASK_uc010zom.1_Missense_Mutation_p.V485A|PASK_uc010fzl.1_Missense_Mutation_p.V520A|PASK_uc010zon.1_Missense_Mutation_p.V301A|PASK_uc002wap.2_Missense_Mutation_p.V63A|PASK_uc002waq.2_Missense_Mutation_p.V520A	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	520					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CTCTATTGCCACAGGTTCCTC	0.567													G	242066771	A	G	242066771	3	3	131	1	0	0	0	0	1	0	0	0	11472	159	6	3	2448	3	PASK	2	242066771	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	408277	242066771	1132602	338	76513											
HDLBP	3069	broad.mit.edu	37	chr2	242196109	242196109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattgctggggtcatctgggCgtgggatctggattttggtt	17	5	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr2:242196109C>T	uc002waz.2	-	6	791	c.563G>A	c.(562-564)CGC>CAC	p.R188H	HDLBP_uc002wba.2_Missense_Mutation_p.R188H|HDLBP_uc002wbb.2_Missense_Mutation_p.R209H|HDLBP_uc010fzn.1_5'UTR	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	188	KH 1.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GTCATCTGGGCGTGGGATCTG	0.488													T	242196109	C	T	242196109	3	4	131	1	0	0	0	0	1	0	0	0	7025	768	27	1	3335	1	HDLBP	2	242196109	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	129338	242196109	1003264	339	76514											
SUMF1	285362	broad.mit.edu	37	chr3	4494631	4494631	+	Frame_Shift_Del	DEL	A	A	-													gacttcataggcatccatgtAaaaggcatcaatagtaactc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:4494631delA	uc003bpz.1	-	2	398	c.373delT	c.(373-375)TACfs	p.Y125fs	SUMF1_uc003bps.1_RNA|SUMF1_uc011ass.1_Frame_Shift_Del_p.Y125fs|SUMF1_uc010hby.1_Frame_Shift_Del_p.Y125fs|SUMF1_uc011ast.1_Frame_Shift_Del_p.Y125fs	NM_182760	NP_877437	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1 isoform 1	125						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			upper_aerodigestive_tract(1)	1		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		GCATCCATGTAAAAGGCATCA	0.458													-	4494631	A	-	4494631	7	5	131	1	0	1	0	1	0	0	0	0	15382	362	13	0	783	0	SUMF1	3	4494631	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08		4494631	193527799	340	76515											
ITPR1	3708	broad.mit.edu	37	chr3	4859884	4859884	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaagtaaaggactccacCgaatatactgggcctgagag	12	8	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:4859884C>T	uc003bqa.2	+	57	8190	c.7842C>T	c.(7840-7842)ACC>ACT	p.T2614T	ITPR1_uc010hca.1_Silent_p.T2599T|ITPR1_uc011asu.1_Silent_p.T625T|ITPR1_uc003bqc.2_Silent_p.T1584T|ITPR1_uc010hcc.1_Silent_p.T382T|ITPR1_uc011asv.1_Silent_p.T338T	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	2662	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGGACTCCACCGAATATACTG	0.498													T	4859884	C	T	4859884	2	4	131	1	0	0	0	0	0	0	0	1	7920	639	23	1		1	ITPR1	3	4859884	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	365253	4859884	193162546	341	76516											
GRM7	2917	broad.mit.edu	37	chr3	7721813	7721813	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggggatgctatacatgccGaaagtgtacatcatcatttt	9	8	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:7721813G>A	uc003bqm.2	+	9	2803	c.2529G>A	c.(2527-2529)CCG>CCA	p.P843P	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.P843P|GRM7_uc003bql.2_Silent_p.P843P|GRM7_uc003bqn.1_Silent_p.P426P	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	843	Helical; Name=7; (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	TATACATGCCGAAAGTGTACA	0.493													A	7721813	G	A	7721813	2	1	131	1	0	0	0	0	0	0	0	1	6802	1045	37	1		1	GRM7	3	7721813	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2861929	7721813	190300617	342	76517											
SETD5	55209	broad.mit.edu	37	chr3	9514939	9514939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtatccctgctggagtaccGaaaacggaaacaagaagcta	11	9	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:9514939G>A	uc003brt.2	+	20	3650	c.3215G>A	c.(3214-3216)CGA>CAA	p.R1072Q	SETD5_uc003bru.2_Missense_Mutation_p.R974Q|SETD5_uc003brv.2_Missense_Mutation_p.R961Q|SETD5_uc010hck.2_Missense_Mutation_p.R554Q|SETD5_uc003brx.2_Missense_Mutation_p.R741Q	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	1072										ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CTGGAGTACCGAAAACGGAAA	0.463													A	9514939	G	A	9514939	3	1	131	1	0	0	0	0	1	0	0	0	14134	1058	37	1	3285	1	SETD5	3	9514939	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1793126	9514939	188507491	343	76518											
SETD5	55209	broad.mit.edu	37	chr3	9517295	9517295	+	Frame_Shift_Del	DEL	C	C	-													actgcactgagacctggaaaCcccccctctcacggttcttc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:9517294_9517294AC>A	uc003brt.3	+	22	4283	c.3848_3848AC>A	c.(3847-3849)aacfs	p.N1283fs	SETD5_uc003bru.3_Frame_Shift_Del_p.N1185fs|SETD5_uc003brv.3_Frame_Shift_Del_p.N1172fs|SETD5_uc010hck.3_Frame_Shift_Del_p.N765fs|SETD5_uc003brx.3_Frame_Shift_Del_p.N952fs	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	1283	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGACCTGGAAACCCCCCCTCT	0.552													-	9517295	C	-	9517295	7	5	131	1	0	1	0	1	0	0	0	0	14134	506	18	0	3931	0	SETD5	3	9517295	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	2356	9517295	188505135	344	76519											
TADA3	10474	broad.mit.edu	37	chr3	9832966	9832966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtttcggcctcaagcacaCgcaggcgccggctggcagaa	15	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:9832966C>T	uc003bsx.1	-	2	733	c.185G>A	c.(184-186)CGT>CAT	p.R62H	TADA3_uc010hcn.1_Missense_Mutation_p.R62H|TADA3_uc003bsy.2_Missense_Mutation_p.R62H|ARPC4_uc003bsz.1_5'Flank|ARPC4_uc003bta.1_5'Flank|ARPC4_uc003btb.1_5'Flank|ARPC4_uc003btc.1_5'Flank	NM_006354	NP_006345	O75528	TADA3_HUMAN	transcriptional adaptor 3 isoform a	62	Potential.				estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity				0						CTCAAGCACACGCAGGCGCCG	0.602													T	9832966	C	T	9832966	3	4	131	1	0	0	0	0	1	0	0	0	15509	536	19	1	1149	1	TADA3	3	9832966	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	315671	9832966	188189464	345	76520											
TTLL3	26140	broad.mit.edu	37	chr3	9867614	9867614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggatcgtgaagccaggaGccaagtcccgcggacgaggt	15	11	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:9867614G>A	uc003btg.2	+	8	1072	c.856G>A	c.(856-858)GCC>ACC	p.A286T	ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Missense_Mutation_p.A253T|TTLL3_uc003btf.3_Missense_Mutation_p.A74T|TTLL3_uc010hco.1_Missense_Mutation_p.A222T|TTLL3_uc003bth.3_Missense_Mutation_p.A74T|TTLL3_uc011atj.1_Missense_Mutation_p.A222T|TTLL3_uc003btj.3_Missense_Mutation_p.A74T|TTLL3_uc003bti.3_Missense_Mutation_p.A74T|TTLL3_uc003btk.2_Missense_Mutation_p.A89T	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	286	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			large_intestine(2)	2	Medulloblastoma(99;0.227)					GAAGCCAGGAGCCAAGTCCCG	0.522													A	9867614	G	A	9867614	3	1	131	1	0	0	0	0	1	0	0	0	16725	971	34	2	882	2	TTLL3	3	9867614	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	34648	9867614	188154816	346	76521											
IL17RC	84818	broad.mit.edu	37	chr3	9965696	9965696	+	Frame_Shift_Del	DEL	A	A	-													ccccaaaaccccggtggcacAaaaacctggtgaggcctccc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:9965696delA	uc003bua.2	+	8	1203	c.967delA	c.(967-969)AAAfs	p.K323fs	CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_RNA|IL17RC_uc011ato.1_RNA|IL17RC_uc010hcs.2_Frame_Shift_Del_p.K227fs|IL17RC_uc003btz.2_Frame_Shift_Del_p.K252fs|IL17RC_uc011atp.1_Frame_Shift_Del_p.K108fs|IL17RC_uc003bud.2_5'UTR|IL17RC_uc003bub.2_Frame_Shift_Del_p.K237fs|IL17RC_uc010hct.2_Frame_Shift_Del_p.K252fs|IL17RC_uc010hcu.2_Frame_Shift_Del_p.K252fs|IL17RC_uc010hcv.2_Frame_Shift_Del_p.K237fs|IL17RC_uc011atq.1_Frame_Shift_Del_p.K237fs|IL17RC_uc003buc.2_5'UTR	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C isoform 1 precursor	323	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|pancreas(1)	2						CCGGTGGCACAAAAACCTGGT	0.572													-	9965696	A	-	9965696	7	5	131	1	0	1	0	1	0	0	0	0	7641	131	5	0	997	0	IL17RC	3	9965696	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	98082	9965696	188056734	347	76522											
IRAK2	3656	broad.mit.edu	37	chr3	10268070	10268070	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaggtgttggccgaggtcCtcacgggcatccctgcaatg	13	13	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:10268070C>A	uc003bve.1	+	10	1301	c.1225C>A	c.(1225-1227)CTC>ATC	p.L409I		NM_001570	NP_001561	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	409	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			lung(5)|breast(3)	8						GGCCGAGGTCCTCACGGGCAT	0.537													A	10268070	C	A	10268070	3	1	131	1	0	0	0	0	1	0	0	0	7823	681	24	5	1263	5	IRAK2	3	10268070	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	302374	10268070	187754360	348	76523											
HRH1	3269	broad.mit.edu	37	chr3	11300948	11300948	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctcggtggcggacttgatCgtgggtgccgtcgtcatgcc	15	12	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:11300948C>T	uc010hdr.2	+	2	567	c.225C>T	c.(223-225)ATC>ATT	p.I75I	HRH1_uc010hds.2_Silent_p.I75I|HRH1_uc010hdt.2_Silent_p.I75I|HRH1_uc003bwb.3_Silent_p.I75I	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	75	Helical; Name=2; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			large_intestine(1)|ovary(1)	2					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CGGACTTGATCGTGGGTGCCG	0.572													T	11300948	C	T	11300948	2	4	131	1	0	0	0	0	0	0	0	1	7355	874	31	1		1	HRH1	3	11300948	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1032878	11300948	186721482	349	76524											
VGLL4	9686	broad.mit.edu	37	chr3	11606282	11606282	+	Frame_Shift_Del	DEL	C	C	-													gaggcccacctgctgccgctCccccggggtcagtgtgggcg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:11606282delC	uc003bwf.2	-	4	832	c.466delG	c.(466-468)GAGfs	p.E156fs	VGLL4_uc010hdx.1_Frame_Shift_Del_p.E162fs|VGLL4_uc003bwg.2_Frame_Shift_Del_p.E161fs|VGLL4_uc010hdv.1_Frame_Shift_Del_p.E72fs|VGLL4_uc010hdw.1_Frame_Shift_Del_p.E76fs|VGLL4_uc011aun.1_Frame_Shift_Del_p.E97fs	NM_014667	NP_055482	Q14135	VGLL4_HUMAN	vestigial like 4 isoform b	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		TGCTGCCGCTCCCCCGGGGTC	0.701													-	11606282	C	-	11606282	7	5	131	1	0	1	0	1	0	0	0	0	17158	864	30	0	418	0	VGLL4	3	11606282	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	305334	11606282	186416148	350	76525											
HDAC11	79885	broad.mit.edu	37	chr3	13525045	13525045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtggtgcacacgaggcGctatcttaatgagctcaagg	14	9	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:13525045G>A	uc003bxy.2	+	3	366	c.233G>A	c.(232-234)CGC>CAC	p.R78H	HDAC11_uc010heb.2_Missense_Mutation_p.R50H|HDAC11_uc011aux.1_Intron|HDAC11_uc003bxz.2_Missense_Mutation_p.R50H|HDAC11_uc011auy.1_Missense_Mutation_p.R50H	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	histone deacetylase 11 isoform 1	78	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			ovary(2)	2						CACACGAGGCGCTATCTTAAT	0.647													A	13525045	G	A	13525045	3	1	131	1	0	0	0	0	1	0	0	0	7006	1087	38	1	243	1	HDAC11	3	13525045	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1918763	13525045	184497385	351	76526											
FGD5	152273	broad.mit.edu	37	chr3	14861510	14861510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagaagtggcagccgccaCcctggaggaccatgcacagg	13	14	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:14861510C>T	uc003bzc.2	+	1	1042	c.932C>T	c.(931-933)ACC>ATC	p.T311I	FGD5_uc011avk.1_Missense_Mutation_p.T311I	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	311	Glu-rich.				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						GCAGCCGCCACCCTGGAGGAC	0.567													T	14861510	C	T	14861510	3	4	131	1	0	0	0	0	1	0	0	0	5836	507	18	4	934	4	FGD5	3	14861510	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1336465	14861510	183160920	352	76527											
NR2C2	7182	broad.mit.edu	37	chr3	15062331	15062331	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgtgaggaaaaatttgAcctacagctgccggagcaac	13	8	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:15062331A>G	uc003bzj.3	+	5	665	c.448A>G	c.(448-450)ACC>GCC	p.T150A	NR2C2_uc003bzi.2_Missense_Mutation_p.T169A	NM_003298	NP_003289	P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	150	Nuclear receptor.				cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0						GAAAAATTTGACCTACAGCTG	0.448													G	15062331	A	G	15062331	3	3	131	1	0	0	0	0	1	0	0	0	10623	275	10	3	523	3	NR2C2	3	15062331	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	200821	15062331	182960099	353	76528											
ZFYVE20	64145	broad.mit.edu	37	chr3	15119589	15119589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatggaccttaccttaaagCgtctatcagctcatacactt	5	11	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:15119589C>T	uc003bzm.1	-	11	1605	c.991G>A	c.(991-993)GCT>ACT	p.A331T	ZFYVE20_uc010hek.1_Missense_Mutation_p.A331T	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	331	Necessary for the interaction with RAB4A.|Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						TACCTTAAAGCGTCTATCAGC	0.493													T	15119589	C	T	15119589	3	4	131	1	0	0	0	0	1	0	0	0	17663	768	27	1	1379	1	ZFYVE20	3	15119589	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	57258	15119589	182902841	354	76529											
ANKRD28	23243	broad.mit.edu	37	chr3	15737709	15737709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtatccttgcttatcacGgatccctggatttgcatcgt	9	10	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:15737709G>A	uc003caj.1	-	15	1644	c.1501C>T	c.(1501-1503)CGT>TGT	p.R501C	ANKRD28_uc003cai.1_Missense_Mutation_p.R347C|ANKRD28_uc011avz.1_Missense_Mutation_p.R347C|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.R531C|ANKRD28_uc003cam.2_Missense_Mutation_p.R534C	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	501						nucleoplasm	protein binding			breast(1)	1						TGCTTATCACGGATCCCTGGA	0.383													A	15737709	G	A	15737709	3	1	131	1	0	0	0	0	1	0	0	0	656	1116	39	1	1716	1	ANKRD28	3	15737709	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	618120	15737709	182284721	355	76530											
SATB1	6304	broad.mit.edu	37	chr3	18393620	18393620	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accttcggatcatggagaggTtctcccacagggttctgttt	11	10	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:18393620T>C	uc003cbh.2	-	10	3378	c.1643A>G	c.(1642-1644)AAC>AGC	p.N548S	SATB1_uc003cbi.2_Missense_Mutation_p.N548S|SATB1_uc003cbj.2_Missense_Mutation_p.N548S	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	548	CUT 2.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						CATGGAGAGGTTCTCCCACAG	0.517													C	18393620	T	C	18393620	3	2	131	1	0	0	0	0	1	0	0	0	13853	1725	60	3	656	3	SATB1	3	18393620	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	2655911	18393620	179628810	356	76531											
TOP2B	7155	broad.mit.edu	37	chr3	25674015	25674015	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgttttccttagtctgAgaatcaaaagttggattttc	8	6	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:25674015A>C	uc011awn.1	-	10	1231	c.1188T>G	c.(1186-1188)TCT>TCG	p.S396S	TOP2B_uc003cdj.2_Silent_p.S391S	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	396					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						CCTTAGTCTGAGAATCAAAAG	0.318													C	25674015	A	C	25674015	2	2	131	1	0	0	0	0	0	0	0	1	16363	291	11	5		5	TOP2B	3	25674015	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	7280395	25674015	172348415	357	76532											
EOMES	8320	broad.mit.edu	37	chr3	27759208	27759208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgggaagaaggattgaaCgccgtaccgacctccaggga	13	12	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:27759208C>T	uc003cdx.2	-	6	1414	c.1414G>A	c.(1414-1416)GTT>ATT	p.V472I	EOMES_uc003cdy.3_Missense_Mutation_p.V491I|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.V196I	NM_005442	NP_005433	O95936	EOMES_HUMAN	eomesodermin	472					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|breast(1)	4						AAGGATTGAACGCCGTACCGA	0.507													T	27759208	C	T	27759208	3	4	131	1	0	0	0	0	1	0	0	0	5147	536	19	1	650	1	EOMES	3	27759208	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2085193	27759208	170263222	358	76533											
AZI2	64343	broad.mit.edu	37	chr3	28379465	28379465	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcctcagctggaggagTtctacttctttagattgtag	10	8	4	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:28379465T>C	uc003ceb.2	-	4	934	c.402A>G	c.(400-402)GAA>GAG	p.E134E	AZI2_uc003cec.2_Silent_p.E22E|AZI2_uc003ced.2_Silent_p.E134E|AZI2_uc003cee.3_Silent_p.E134E|AZI2_uc003ceg.2_Silent_p.E134E|AZI2_uc011axd.1_Silent_p.E134E|AZI2_uc003cef.2_Silent_p.E134E	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2 isoform a	134	Potential.					mitochondrion|plasma membrane				ovary(2)	2						GCTGGAGGAGTTCTACTTCTT	0.328													C	28379465	T	C	28379465	2	2	131	1	0	0	0	0	0	0	0	1	1241	1722	60	3		3	AZI2	3	28379465	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	620257	28379465	169642965	359	76534											
DYNC1LI1	51143	broad.mit.edu	37	chr3	32568309	32568309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaagaagcttctccttcCgtaggagatgtaggtgttgt	11	8	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:32568309C>T	uc003cfb.3	-	13	1642	c.1554G>A	c.(1552-1554)ACG>ACA	p.T518T	DYNC1LI1_uc011axh.1_Silent_p.T402T	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain	518					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			ovary(1)	1						CTTCTCCTTCCGTAGGAGATG	0.398													T	32568309	C	T	32568309	2	4	131	1	0	0	0	0	0	0	0	1	4844	639	23	1		1	DYNC1LI1	3	32568309	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4188844	32568309	165454121	360	76535											
ARPP21	10777	broad.mit.edu	37	chr3	35785437	35785437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaggagtcaacagatgcCacaggcagcacagcaagcag	12	11	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:35785437C>T	uc003cgb.2	+	18	2276	c.2012C>T	c.(2011-2013)CCA>CTA	p.P671L	ARPP21_uc003cga.2_Missense_Mutation_p.P652L|ARPP21_uc011axy.1_Missense_Mutation_p.P672L|ARPP21_uc003cgf.2_Missense_Mutation_p.P507L|ARPP21_uc003cgg.2_Missense_Mutation_p.P194L|uc011axz.1_5'Flank|MIR128-2_hsa-mir-128-2|MI0000727_5'Flank	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	671	Gln-rich.					cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						CAACAGATGCCACAGGCAGCA	0.493													T	35785437	C	T	35785437	3	4	131	1	0	0	0	0	1	0	0	0	978	594	21	4	2087	4	ARPP21	3	35785437	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3217128	35785437	162236993	361	76536											
DCLK3	85443	broad.mit.edu	37	chr3	36759553	36759553	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aactcaaagtggcccagctgGatgatgttaaagagctcgtc	11	9	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:36759553G>T	uc003cgi.2	-	4	2192	c.1701C>A	c.(1699-1701)ATC>ATA	p.I567I		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	567	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						GGCCCAGCTGGATGATGTTAA	0.552													T	36759553	G	T	36759553	2	4	131	1	0	0	0	0	0	0	0	1	4293	1164	41	5		5	DCLK3	3	36759553	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	974116	36759553	161262877	362	76537											
PLCD1	5333	broad.mit.edu	37	chr3	38049344	38049344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacatgaggtggacatggcGgtatcctggtgggtggacag	18	6	0	2	rs142785779	by1000genomes	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:38049344G>A	uc003chn.2	-	15	2315	c.2191C>T	c.(2191-2193)CGC>TGC	p.R731C	PLCD1_uc003chm.2_Missense_Mutation_p.R752C	NM_006225	NP_006216	P51178	PLCD1_HUMAN	phospholipase C, delta 1 isoform 2	731					intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGGACATGGCGGTATCCTGGT	0.617													A	38049344	G	A	38049344	3	1	131	1	0	0	0	0	1	0	0	0	12031	1116	39	1	83	1	PLCD1	3	38049344	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1289791	38049344	159973086	363	76538											
ZNF619	285267	broad.mit.edu	37	chr3	40528461	40528461	+	Frame_Shift_Del	DEL	A	A	-													agctacatgatacagggaatAaaacaaagataggggattgc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:40528461delA	uc011azb.1	+	6	858	c.580delA	c.(580-582)AAAfs	p.K194fs	ZNF619_uc010hhz.2_Frame_Shift_Del_p.K145fs|ZNF619_uc003ckj.2_Frame_Shift_Del_p.K138fs|ZNF619_uc011azc.1_Frame_Shift_Del_p.K154fs|ZNF619_uc011azd.1_Frame_Shift_Del_p.K110fs|ZNF619_uc011aza.1_Frame_Shift_Del_p.K96fs	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619 isoform 1	194					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TACAGGGAATAAAACAAAGAT	0.473													-	40528461	A	-	40528461	7	5	131	1	0	1	0	1	0	0	0	0	18040	363	13	0	620	0	ZNF619	3	40528461	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	2479117	40528461	157493969	364	76539											
ULK4	54986	broad.mit.edu	37	chr3	41938397	41938397	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggagattcagcttggctcGggaggcccccatgctcttct	12	12	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:41938397G>A	uc003ckv.3	-	15	1648	c.1447C>T	c.(1447-1449)CGA>TGA	p.R483*	ULK4_uc003ckw.2_Nonsense_Mutation_p.R483*|ULK4_uc003ckx.1_Nonsense_Mutation_p.R483*	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	483							ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGCTTGGCTCGGGAGGCCCCC	0.512													A	41938397	G	A	41938397	4	1	131	1	0	0	0	0	0	1	0	0	16975	1124	39	1	2472	1	ULK4	3	41938397	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1409936	41938397	156084033	365	76540											
NKTR	4820	broad.mit.edu	37	chr3	42680001	42680001	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaacccacaaccaagtcGtccacaaatacttcactgcc	4	16	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:42680001G>A	uc003clo.2	+	13	2952	c.2805G>A	c.(2803-2805)TCG>TCA	p.S935S	NKTR_uc003clm.1_Silent_p.S682S|NKTR_uc003clp.2_Silent_p.S682S|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Silent_p.S825S|NKTR_uc003clr.1_Silent_p.S682S|NKTR_uc003cls.2_Silent_p.S635S	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	935					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CAACCAAGTCGTCCACAAATA	0.458													A	42680001	G	A	42680001	2	1	131	1	0	0	0	0	0	0	0	1	10448	1132	40	1		1	NKTR	3	42680001	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	741604	42680001	155342429	366	76541											
ANO10	55129	broad.mit.edu	37	chr3	43647331	43647331	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaagtatccaaagctgatAaggtcactttcatctttgac	7	9	3	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:43647331A>G	uc003cmv.2	-	2	185	c.14T>C	c.(13-15)TTA>TCA	p.L5S	ANO10_uc011azs.1_Missense_Mutation_p.L5S|ANO10_uc003cmw.2_Missense_Mutation_p.L5S|ANO10_uc010hil.2_Missense_Mutation_p.L5S|ANO10_uc011azt.1_Missense_Mutation_p.L5S	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	transmembrane protein 16K	5	Cytoplasmic (Potential).				cell death	chloride channel complex	chloride channel activity			ovary(2)	2						CAAAGCTGATAAGGTCACTTT	0.353													G	43647331	A	G	43647331	3	3	131	1	0	0	0	0	1	0	0	0	696	372	13	3	2016	3	ANO10	3	43647331	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	967330	43647331	154375099	367	76542											
XCR1	2829	broad.mit.edu	37	chr3	46063377	46063377	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaggcctggttctcacaCggctggctctgaaggtcata	11	13	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:46063377C>T	uc003cpe.2	-	3	287	c.63G>A	c.(61-63)CCG>CCA	p.P21P	uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Silent_p.P21P	NM_005283	NP_005274	P46094	XCR1_HUMAN	XC chemokine receptor 1	21	Extracellular (Potential).				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GGTTCTCACACGGCTGGCTCT	0.552													T	46063377	C	T	46063377	2	4	131	1	0	0	0	0	0	0	0	1	17422	523	19	1		1	XCR1	3	46063377	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2416046	46063377	151959053	368	76543											
LRRC2	79442	broad.mit.edu	37	chr3	46563024	46563024	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taacccacctctttctttaaGgtcttcaatataggctttca	4	11	5	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:46563024G>T	uc010hji.2	-	8	1418	c.1054C>A	c.(1054-1056)CTT>ATT	p.L352I	LRRC2_uc003cpu.3_Missense_Mutation_p.L352I	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	352										ovary(1)	1		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CTTTCTTTAAGGTCTTCAATA	0.308													T	46563024	G	T	46563024	3	4	131	1	0	0	0	0	1	0	0	0	8976	1000	35	5	69	5	LRRC2	3	46563024	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	499647	46563024	151459406	369	76544											
NBEAL2	23218	broad.mit.edu	37	chr3	47042816	47042816	+	Frame_Shift_Del	DEL	C	C	-													cctgaccgacatcaaagaggCccccgtgggggtcctggcca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:47042816delC	uc003cqp.2	+	29	4711	c.4532delC	c.(4531-4533)GCCfs	p.A1511fs	NBEAL2_uc010hjm.1_Frame_Shift_Del_p.A888fs|NBEAL2_uc010hjn.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1511							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ATCAAAGAGGCCCCCGTGGGG	0.607													-	47042816	C	-	47042816	7	5	131	1	0	1	0	1	0	0	0	0	10189	739	26	0	4646	0	NBEAL2	3	47042816	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	479792	47042816	150979614	370	76545											
SETD2	29072	broad.mit.edu	37	chr3	47139450	47139450	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaaatgcaaacttactgaatCcttcttacgagatcgttcct	5	10	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:47139450C>A	uc003cqs.2	-	9	5190	c.5137G>T	c.(5137-5139)GAT>TAT	p.D1713Y	SETD2_uc003cqv.2_Missense_Mutation_p.D1780Y	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1713					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTTACTGAATCCTTCTTACGA	0.418			N|F|S|Mis		clear cell renal carcinoma								A	47139450	C	A	47139450	3	1	131	1	0	0	0	0	1	0	0	0	14131	855	30	5	2609	5	SETD2	3	47139450	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	96634	47139450	150882980	371	76546											
SETD2	29072	broad.mit.edu	37	chr3	47163427	47163427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagatgtgttctctccgCatttcaagagagttagactg	11	8	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:47163427C>T	uc003cqs.2	-	3	2752	c.2699G>A	c.(2698-2700)TGC>TAC	p.C900Y	SETD2_uc003cqv.2_Missense_Mutation_p.C889Y	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	900					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GTTCTCTCCGCATTTCAAGAG	0.388			N|F|S|Mis		clear cell renal carcinoma								T	47163427	C	T	47163427	3	4	131	1	0	0	0	0	1	0	0	0	14131	710	25	2	5071	2	SETD2	3	47163427	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	23977	47163427	150859003	372	76547											
SMARCC1	6599	broad.mit.edu	37	chr3	47629765	47629765	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accccatctgcaggtggtggTggcggtggctgctgctgtgg	18	10	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:47629765T>C	uc003crq.2	-	28	3370	c.3252A>G	c.(3250-3252)CCA>CCG	p.P1084P	SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Silent_p.P975P	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	1084	Pro-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CAGGTGGTGGTGGCGGTGGCT	0.587													C	47629765	T	C	47629765	2	2	131	1	0	0	0	0	0	0	0	1	14775	1683	59	3		3	SMARCC1	3	47629765	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	466338	47629765	150392665	373	76548											
NME6	10201	broad.mit.edu	37	chr3	48336187	48336187	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacctccctctgggctataGcacacagggccacagcgcaa	9	16	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:48336187G>A	uc003csp.3	-	6	552	c.501C>T	c.(499-501)TGC>TGT	p.C167C	NME6_uc003cso.2_Silent_p.C175C|NME6_uc011bbh.1_Missense_Mutation_p.A154V|NME6_uc010hju.2_Silent_p.C69C|NME6_uc011bbi.1_Silent_p.C100C	NM_005793	NP_005784	O75414	NDK6_HUMAN	nucleoside diphosphate kinase type 6	167					anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity				0				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		CTGGGCTATAGCACACAGGGC	0.562													A	48336187	G	A	48336187	2	1	131	1	0	0	0	0	0	0	0	1	10495	963	34	2		2	NME6	3	48336187	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	706422	48336187	149686243	374	76549											
CELSR3	1951	broad.mit.edu	37	chr3	48682920	48682920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaggaagaggagctctgCcacccccagggcggctgcca	14	15	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:48682920C>T	uc003cul.2	-	24	8034	c.7753G>A	c.(7753-7755)GCA>ACA	p.A2585T	CELSR3_uc003cuf.1_Missense_Mutation_p.A2655T|CELSR3_uc010hkf.2_5'Flank|CELSR3_uc010hkg.2_Missense_Mutation_p.A568T	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	2585	Helical; Name=2; (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGAGCTCTGCCACCCCCAGG	0.632													T	48682920	C	T	48682920	3	4	131	1	0	0	0	0	1	0	0	0	3223	739	26	2	2233	2	CELSR3	3	48682920	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	346733	48682920	149339510	375	76550											
CELSR3	1951	broad.mit.edu	37	chr3	48699541	48699543	+	In_Frame_Del	DEL	AAA	AAA	-													tgggaccgtggtgccgaatcAaaaagtctgaagggaggggc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:48699541_48699543delAAA	uc003cul.2	-	1	806_808	c.525_527delTTT	c.(523-528)TTTTTG>TTG	p.F175del	CELSR3_uc003cuf.1_In_Frame_Del_p.F245del	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	175	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGCCGAATCAAAAAGTCTGAAG	0.645													-	48699543	AAA	-	48699541	7	5	131	1	0	1	0	1	0	0	0	0	3223	131	5	0	9551	0	CELSR3	3	48699541	In_Frame_Del	DEL	AAA	TCGA-BR-A4QL-01A-31D-A25D-08	16621	48699541	149322889	376	76551											
IP6K2	51447	broad.mit.edu	37	chr3	48726979	48726980	+	Frame_Shift_Del	DEL	CA	CA	-													catccccctcacctgcatgcCacacacacgcacaccaatga							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:48726979_48726980delCA	uc003cup.2	-	5	1015_1016	c.771_772delTG	c.(769-774)TGTGGCfs	p.C257fs	IP6K2_uc003cuq.2_Frame_Shift_Del_p.C257fs	NM_001005909	NP_001005909	Q9UHH9	IP6K2_HUMAN	inositol hexaphosphate kinase 2 isoform a	257_258					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						ACCTGCATGCCACACACACGCA	0.525													-	48726980	CA	-	48726979	7	5	131	1	0	1	0	1	0	0	0	0	7789	594	21	0	516	0	IP6K2	3	48726979	Frame_Shift_Del	DEL	CA	TCGA-BR-A4QL-01A-31D-A25D-08	27438	48726979	149295451	377	76552											
USP19	10869	broad.mit.edu	37	chr3	49156569	49156569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcctgtggcactggcccCgccagacatcttgagccgct	13	15	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:49156569C>T	uc003cwd.1	-	2	171	c.10G>A	c.(10-12)GGG>AGG	p.G4R	USP19_uc003cwa.2_5'Flank|USP19_uc003cvz.3_Missense_Mutation_p.G4R|USP19_uc011bcg.1_Missense_Mutation_p.G4R|USP19_uc003cwb.2_Missense_Mutation_p.G4R|USP19_uc003cwc.1_5'Flank|USP19_uc011bch.1_Missense_Mutation_p.G4R|USP19_uc011bci.1_Missense_Mutation_p.G4R	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	4	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCACTGGCCCCGCCAGACATC	0.632													T	49156569	C	T	49156569	3	4	131	1	0	0	0	0	1	0	0	0	17047	652	23	1	4046	1	USP19	3	49156569	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	429590	49156569	148865861	378	76553											
LAMB2	3913	broad.mit.edu	37	chr3	49162267	49162267	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaggatccattgggtcAatgttcccactgcactcaca	8	13	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:49162267A>G	uc003cwe.2	-	21	3275	c.2976T>C	c.(2974-2976)ATT>ATC	p.I992I	LAMB2_uc003cwf.1_Silent_p.I992I	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	992	Laminin EGF-like 10.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCATTGGGTCAATGTTCCCAC	0.617													G	49162267	A	G	49162267	2	3	131	1	0	0	0	0	0	0	0	1	8611	126	5	3		3	LAMB2	3	49162267	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	5698	49162267	148860163	379	76554											
BSN	8927	broad.mit.edu	37	chr3	49698693	49698693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagtccccgctgatagcCgtgccccactgcagaagcca	9	17	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:49698693C>T	uc003cxe.3	+	6	9529	c.9415C>T	c.(9415-9417)CGT>TGT	p.R3139C		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	3139					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CGCTGATAGCCGTGCCCCACT	0.612													T	49698693	C	T	49698693	3	4	131	1	0	0	0	0	1	0	0	0	1530	652	23	1	9437	1	BSN	3	49698693	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	536426	49698693	148323737	380	76555											
GMPPB	29925	broad.mit.edu	37	chr3	49760113	49760113	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacacctgtggcttctccacGaaccggtgaatgcggcctgt	11	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:49760113G>A	uc003cxk.1	-	5	702	c.477C>T	c.(475-477)TTC>TTT	p.F159F	AMIGO3_uc003cxj.2_5'Flank|GMPPB_uc003cxl.1_Silent_p.F159F	NM_021971	NP_068806	Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B isoform 2	159					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTTCTCCACGAACCGGTGAA	0.572													A	49760113	G	A	49760113	2	1	131	1	0	0	0	0	0	0	0	1	6495	1049	37	1		1	GMPPB	3	49760113	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	61420	49760113	148262317	381	76556											
TRAIP	10293	broad.mit.edu	37	chr3	49866635	49866635	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgggcttaacaggcaaTgggcggatcatgactgtgtc	14	8	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:49866635T>C	uc003cxs.1	-	15	1417	c.1311A>G	c.(1309-1311)CCA>CCG	p.P437P	TRAIP_uc010hla.1_Silent_p.P338P	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	437	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TAACAGGCAATGGGCGGATCA	0.552													C	49866635	T	C	49866635	2	2	131	1	0	0	0	0	0	0	0	1	16445	1451	51	3		3	TRAIP	3	49866635	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	106522	49866635	148155795	382	76557											
CAMKV	79012	broad.mit.edu	37	chr3	49898957	49898957	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacgttgcttgtgtctcgcTccgagtagtagccctggtcc	11	14	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:49898957T>C	uc003cxt.1	-	5	549	c.356A>G	c.(355-357)GAG>GGG	p.E119G	CAMKV_uc011bcy.1_Missense_Mutation_p.E44G|CAMKV_uc003cxv.1_Missense_Mutation_p.E119G|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Missense_Mutation_p.E119G|CAMKV_uc011bcz.1_Missense_Mutation_p.E82G|CAMKV_uc011bda.1_Intron|CAMKV_uc011bdb.1_RNA	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	119	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGTGTCTCGCTCCGAGTAGTA	0.607													C	49898957	T	C	49898957	3	2	131	1	0	0	0	0	1	0	0	0	2608	1551	54	3	1177	3	CAMKV	3	49898957	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	32322	49898957	148123473	383	76558											
ZMYND10	51364	broad.mit.edu	37	chr3	50381254	50381254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttccacatctccactgCgatcagctcctccaccagtg	6	18	2	0	rs146847253	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:50381254C>T	uc003dag.1	-	3	375	c.229G>A	c.(229-231)GCA>ACA	p.A77T	RASSF1_uc003dad.1_5'Flank|RASSF1_uc003dae.1_5'Flank|RASSF1_uc010hlk.1_5'Flank|RASSF1_uc003daf.1_5'Flank|RASSF1_uc011bdq.1_5'Flank|ZMYND10_uc010hll.1_Missense_Mutation_p.A77T|ZMYND10_uc003dah.1_5'UTR|ZMYND10_uc010hlm.1_Missense_Mutation_p.A34T	NM_015896	NP_056980	O75800	ZMY10_HUMAN	zinc finger, MYND domain-containing 10	77						cytoplasm	protein binding|zinc ion binding			lung(4)|ovary(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ATCTCCACTGCGATCAGCTCC	0.582										TSP Lung(30;0.18)			T	50381254	C	T	50381254	3	4	131	1	0	0	0	0	1	0	0	0	17702	768	27	1	1133	1	ZMYND10	3	50381254	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	482297	50381254	147641176	384	76559											
RBM15B	29890	broad.mit.edu	37	chr3	51429992	51429992	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcctcaagttccagaacctgGacatggcccatagggctaag	10	12	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:51429992G>T	uc003dbd.2	+	1	1262	c.1162G>T	c.(1162-1164)GAC>TAC	p.D388Y		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	388	RRM 2.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCAGAACCTGGACATGGCCCA	0.582													T	51429992	G	T	51429992	3	4	131	1	0	0	0	0	1	0	0	0	13117	1174	41	5	1164	5	RBM15B	3	51429992	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1048738	51429992	146592438	385	76560											
VPRBP	9730	broad.mit.edu	37	chr3	51475715	51475715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcaagatgaaaggagatctCcatgtctccagaagcttcct	8	10	3	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:51475715C>T	uc003dbe.1	-	8	880	c.712G>A	c.(712-714)GAG>AAG	p.E238K	VPRBP_uc003dbg.1_Missense_Mutation_p.E238K	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	238					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AAGGAGATCTCCATGTCTCCA	0.463													T	51475715	C	T	51475715	3	4	131	1	0	0	0	0	1	0	0	0	17182	864	30	4	3720	4	VPRBP	3	51475715	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	45723	51475715	146546715	386	76561											
RAD54L2	23132	broad.mit.edu	37	chr3	51677945	51677945	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcttattaatcagttcaAtgatcccagcaacctcacca	6	13	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:51677945A>G	uc011bdt.1	+	15	2530	c.2405A>G	c.(2404-2406)AAT>AGT	p.N802S	RAD54L2_uc003dbh.2_Missense_Mutation_p.N391S|RAD54L2_uc011bdu.1_Missense_Mutation_p.N496S|RAD54L2_uc003dbj.2_Missense_Mutation_p.N128S	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	802	Helicase C-terminal.					nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AATCAGTTCAATGATCCCAGC	0.507													G	51677945	A	G	51677945	3	3	131	1	0	0	0	0	1	0	0	0	12994	101	4	3	2459	3	RAD54L2	3	51677945	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	202230	51677945	146344485	387	76562											
RAD54L2	23132	broad.mit.edu	37	chr3	51680401	51680401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctatgaggaagacaaacGcacatcagtcccctataccc	7	13	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:51680401G>A	uc011bdt.1	+	18	3055	c.2930G>A	c.(2929-2931)CGC>CAC	p.R977H	RAD54L2_uc003dbh.2_Missense_Mutation_p.R566H|RAD54L2_uc011bdu.1_Missense_Mutation_p.R671H|RAD54L2_uc003dbj.2_Missense_Mutation_p.R303H	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	977						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GAAGACAAACGCACATCAGTC	0.512													A	51680401	G	A	51680401	3	1	131	1	0	0	0	0	1	0	0	0	12994	1087	38	1	2996	1	RAD54L2	3	51680401	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2456	51680401	146342029	388	76563											
TLR9	54106	broad.mit.edu	37	chr3	52255992	52255992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctgggcagaccgggcacGgcagcctgcacctccagcag	15	16	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:52255992G>A	uc003dda.1	-	2	2974	c.2340C>T	c.(2338-2340)GCC>GCT	p.A780A	TLR9_uc003ddb.2_Silent_p.A877A	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	780	Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GACCGGGCACGGCAGCCTGCA	0.657													A	52255992	G	A	52255992	2	1	131	1	0	0	0	0	0	0	0	1	15955	1103	39	1		1	TLR9	3	52255992	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	575591	52255992	145766438	389	76564											
PPM1M	132160	broad.mit.edu	37	chr3	52281754	52281754	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagatgggcggctgcacagcCctggtggctgtgtccctgca	15	13	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:52281754C>A	uc003ddf.3	+	4	536	c.171C>A	c.(169-171)GCC>GCA	p.A57A	PPM1M_uc011bed.1_Silent_p.A218A|PPM1M_uc010hmd.2_Silent_p.A57A|PPM1M_uc003ddg.3_Silent_p.A6A|PPM1M_uc003ddh.3_5'Flank			Q96MI6	PPM1M_HUMAN	RecName: Full=Protein phosphatase 1M;          EC=3.1.3.16; AltName: Full=Protein phosphatase 2C isoform eta;          Short=PP2C-eta;          Short=PP2CE;	57	PP2C-like.				protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding				0				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		GCTGCACAGCCCTGGTGGCTG	0.647													A	52281754	C	A	52281754	2	1	131	1	0	0	0	0	0	0	0	1	12345	610	22	5		5	PPM1M	3	52281754	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	25762	52281754	145740676	390	76565											
DNAH1	25981	broad.mit.edu	37	chr3	52393996	52393996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcgggcagtgctgtcagCgctaatcgtcattgaggtcc	14	11	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:52393996C>T	uc011bef.1	+	27	4733	c.4472C>T	c.(4471-4473)GCG>GTG	p.A1491V		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1491	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTGCTGTCAGCGCTAATCGTC	0.567													T	52393996	C	T	52393996	3	4	131	1	0	0	0	0	1	0	0	0	4597	768	27	1	4574	1	DNAH1	3	52393996	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	112242	52393996	145628434	391	76566											
STAB1	23166	broad.mit.edu	37	chr3	52555418	52555418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccttgtagtgaccgtggcGtgtgcatggacggcatgagt	16	9	0	2	rs142954501		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:52555418G>A	uc003dej.2	+	56	6024	c.5950G>A	c.(5950-5952)GTG>ATG	p.V1984M	STAB1_uc003dek.1_Translation_Start_Site|STAB1_uc003del.2_Translation_Start_Site	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1984	Extracellular (Potential).|Laminin EGF-like 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGACCGTGGCGTGTGCATGGA	0.637													A	52555418	G	A	52555418	3	1	131	1	0	0	0	0	1	0	0	0	15236	1145	40	1	6172	1	STAB1	3	52555418	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	161422	52555418	145467012	392	76567											
SPCS1	28972	broad.mit.edu	37	chr3	52740858	52740858	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaacagttcgggtggactgTctatatagttatggccggat	13	6	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:52740858T>G	uc011bei.1	+	3	552	c.347T>G	c.(346-348)GTC>GGC	p.V116G	GLT8D1_uc003dfj.2_5'Flank|GLT8D1_uc003dfk.2_5'Flank|GLT8D1_uc003dfl.2_5'Flank|GLT8D1_uc003dfm.2_5'Flank|GLT8D1_uc003dfn.2_5'Flank|GLT8D1_uc003dfo.1_5'Flank|GLT8D1_uc010hmm.1_5'Flank	NM_014041	NP_054760	Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog	116	Helical; (Potential).				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to endoplasmic reticulum membrane|microsome|signal peptidase complex	peptidase activity				0				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		GGGTGGACTGTCTATATAGTT	0.428													G	52740858	T	G	52740858	3	3	131	1	0	0	0	0	1	0	0	0	15022	1667	58	5	357	5	SPCS1	3	52740858	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	185440	52740858	145281572	393	76568											
PRKCD	5580	broad.mit.edu	37	chr3	53215749	53215752	+	Splice_Site	DEL	GTAA	GTAA	-													gcaaggctacaaatgcaggcGtaagtgtctccacaggccag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:53215749_53215752delGTAA	uc003dgl.2	+	7	924	c.571_splice	c.e7+1	p.Q191_splice	PRKCD_uc003dgm.2_Splice_Site_p.Q191_splice|PRKCD_uc003dgn.2_Frame_Shift_Del_p.R191fs|PRKCD_uc010hmt.1_5'Flank	NM_006254	NP_006245	Q05655	KPCD_HUMAN	protein kinase C, delta						activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		AAATGCAGGCGTAAGTGTCTCCAC	0.574													-	53215752	GTAA	-	53215749	8	5	131	1	0	1	0	1	0	0	1	0	12509	1159	40	0	590	0	PRKCD	3	53215749	Splice_Site	DEL	GTAA	TCGA-BR-A4QL-01A-31D-A25D-08	474891	53215749	144806681	394	76569											
CACNA1D	776	broad.mit.edu	37	chr3	53700370	53700370	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgctctgtttgcagatatCgtagctgaagaggacccagc	11	9	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:53700370C>T	uc003dgv.3	+	7	1087	c.924C>T	c.(922-924)ATC>ATT	p.I308I	CACNA1D_uc003dgu.3_Silent_p.I308I|CACNA1D_uc003dgy.3_Silent_p.I308I|CACNA1D_uc003dgw.3_5'UTR	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	308	Extracellular (Potential).|I.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTGCAGATATCGTAGCTGAAG	0.567													T	53700370	C	T	53700370	2	4	131	1	0	0	0	0	0	0	0	1	2541	874	31	1		1	CACNA1D	3	53700370	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	484621	53700370	144322060	395	76570											
LRTM1	57408	broad.mit.edu	37	chr3	54952736	54952736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagagttctcgctcccccGcgttgtggttctcaggaggc	12	14	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:54952736G>A	uc003dhl.2	-	3	922	c.788C>T	c.(787-789)GCG>GTG	p.A263V	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	263	Extracellular (Potential).					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TCGCTCCCCCGCGTTGTGGTT	0.627													A	54952736	G	A	54952736	3	1	131	1	0	0	0	0	1	0	0	0	9044	1087	38	1	253	1	LRTM1	3	54952736	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1252366	54952736	143069694	396	76571											
ASB14	142686	broad.mit.edu	37	chr3	57312678	57312678	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctatctggaggcagttaacCgggtcttgattaggcagagc	14	8	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:57312678C>T	uc003diq.2	-	8	1254	c.666G>A	c.(664-666)CCG>CCA	p.P222P	ASB14_uc003dip.1_Silent_p.P101P	NM_001142733	NP_001136205	A6NK59	ASB14_HUMAN	ankyrin repeat and SOCS box-containing 14	386	ANK 10.				intracellular signal transduction						0				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		GGCAGTTAACCGGGTCTTGAT	0.488													T	57312678	C	T	57312678	2	4	131	1	0	0	0	0	0	0	0	1	1018	639	23	1		1	ASB14	3	57312678	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2359942	57312678	140709752	397	76572											
FLNB	2317	broad.mit.edu	37	chr3	58089788	58089789	+	Frame_Shift_Ins	INS	-	-	G													tacagcattgccatcacatgINSggggggacaccacattccaa					rs145086495		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:58089787_58089788T>TG	uc003djj.2	+	9	1750_1751	c.1585_1586T>TG	c.(1585-1587)tggfs	p.W529fs	FLNB_uc010hne.2_Frame_Shift_Ins_p.W529fs|FLNB_uc003djk.2_Frame_Shift_Ins_p.W529fs|FLNB_uc010hnf.2_Frame_Shift_Ins_p.W529fs|FLNB_uc003djl.2_Frame_Shift_Ins_p.W360fs|FLNB_uc003djm.2_Frame_Shift_Ins_p.W360fs	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	529					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGCCATCACATGGGGGGGACAC	0.594													G	58089789	-	G	58089788	7	5	131	1	0	1	1	0	0	0	0	0	5934	1357	47	0	1624	0	FLNB	3	58089788	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	777110	58089788	139932642	398	76573											
ATXN7	6314	broad.mit.edu	37	chr3	63938154	63938156	+	In_Frame_Del	DEL	ATT	ATT	-													accgcaggcatttcaatcacAttatggtaagtgcttaacca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:63938154_63938156delATT	uc003dlw.3	+	5	1047_1049	c.494_496delATT	c.(493-498)CATTAT>CAT	p.Y166del	ATXN7_uc003dlv.2_In_Frame_Del_p.Y166del|ATXN7_uc010hnv.2_In_Frame_Del_p.Y166del	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	166					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TTTCAATCACATTATGGTAAGTG	0.379													-	63938156	ATT	-	63938154	7	5	131	1	0	1	0	1	0	0	0	0	1215	217	8	0	504	0	ATXN7	3	63938154	In_Frame_Del	DEL	ATT	TCGA-BR-A4QL-01A-31D-A25D-08	5848366	63938154	134084276	399	76574											
PRICKLE2	166336	broad.mit.edu	37	chr3	64133162	64133162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaattttggcactgcgcCgggactccttggccctggcg	13	14	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:64133162C>T	uc003dmf.2	-	7	1590	c.1004G>A	c.(1003-1005)CGG>CAG	p.R335Q		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	335						cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGCACTGCGCCGGGACTCCTT	0.597													T	64133162	C	T	64133162	3	4	131	1	0	0	0	0	1	0	0	0	12487	652	23	1	1538	1	PRICKLE2	3	64133162	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	195008	64133162	133889268	400	76575											
ADAMTS9	56999	broad.mit.edu	37	chr3	64672445	64672445	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaaatagaaactgctggccGaaggcagagaggcggtaatg	14	6	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:64672445G>A	uc003dmg.2	-	2	347	c.315C>T	c.(313-315)TTC>TTT	p.F105F	ADAMTS9_uc011bfo.1_Silent_p.F105F|ADAMTS9_uc003dmh.1_5'UTR|ADAMTS9_uc003dmk.1_Silent_p.F105F|uc003dml.2_Intron	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	105					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACTGCTGGCCGAAGGCAGAGA	0.502													A	64672445	G	A	64672445	2	1	131	1	0	0	0	0	0	0	0	1	273	1049	37	1		1	ADAMTS9	3	64672445	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	539283	64672445	133349985	401	76576											
KBTBD8	84541	broad.mit.edu	37	chr3	67049611	67049611	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgcaatcagcccttacTtcaggtatgatgatggtagg	11	8	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:67049611T>C	uc003dmy.2	+	2	276	c.223T>C	c.(223-225)TTC>CTC	p.F75L	KBTBD8_uc011bfv.1_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	T-cell activation kelch repeat protein	75	BTB.									ovary(2)|large_intestine(1)|breast(1)	4		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CAGCCCTTACTTCAGGTATGA	0.428													C	67049611	T	C	67049611	3	2	131	1	0	0	0	0	1	0	0	0	7999	1609	56	3	229	3	KBTBD8	3	67049611	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	2377166	67049611	130972819	402	76577											
SUCLG2	8801	broad.mit.edu	37	chr3	67570955	67570955	+	Frame_Shift_Del	DEL	C	C	-													ccacctcttcaatgtcgacgCccccctgggggctgcccacc					rs61756471	by1000genomes	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:67570954_67570954GC>G	uc021xae.1	-	4	550	c.522_522GC>C	c.(520-522)ggcfs	p.G174fs	SUCLG2_uc010hob.3_Frame_Shift_Del_p.G55fs|SUCLG2_uc003dna.4_Frame_Shift_Del_p.G174fs	NM_001177599	NP_001171070	Q96I99	SUCB2_HUMAN	Homo sapiens succinate-CoA ligase, GDP-forming, beta subunit (SUCLG2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	174	ATP-grasp.			GV -> RS (in Ref. 2; AAC64397).	succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	CAATGTCGACGCCCCCCTGGG	0.507													-	67570955	C	-	67570955	7	5	131	1	0	1	0	1	0	0	0	0	15364	739	26	0	949	0	SUCLG2	3	67570955	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	521344	67570955	130451475	403	76578											
FAM19A4	151647	broad.mit.edu	37	chr3	68782295	68782295	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcacacctctctcttcgctAccgcgttacctaaaacaaat	4	15	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:68782295A>G	uc003dnh.1	-	6	864	c.421T>C	c.(421-423)TAG>CAG	p.*141Q	FAM19A4_uc003dni.1_Nonstop_Mutation_p.*141Q	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine	141						extracellular region				skin(2)	2		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		TCTCTTCGCTACCGCGTTACC	0.493													G	68782295	A	G	68782295	4	3	131	1	0	0	0	0	0	0	0	0	5534	404	14	3	5	3	FAM19A4	3	68782295	Nonstop_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1211340	68782295	129240135	404	76579											
TMF1	7110	broad.mit.edu	37	chr3	69097100	69097100	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatcactggtggtagaagtAcctgatgaaaaggtactaac	10	6	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:69097100A>G	uc003dnn.2	-	2	1003	c.756T>C	c.(754-756)GGT>GGC	p.G252G	TMF1_uc011bfx.1_Silent_p.G252G	NM_007114	NP_009045	P82094	TMF1_HUMAN	TATA element modulatory factor 1	252					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity				0		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TGGTAGAAGTACCTGATGAAA	0.408													G	69097100	A	G	69097100	2	3	131	1	0	0	0	0	0	0	0	1	16225	378	14	3		3	TMF1	3	69097100	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	314805	69097100	128925330	405	76580											
UBA3	9039	broad.mit.edu	37	chr3	69129290	69129292	+	In_Frame_Del	DEL	CTT	CTT	-													ccagcagctcctctattctcCttcttttcttctccctaaaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:69129289_69129291CCTT>C	uc003dno.3	-	1	54_56	c.34_36AAGG>G	c.(34-36)agg>G	p.R13del	UBA3_uc003dnq.3_Intron|UBA3_uc011bfy.2_Intron|UBA3_uc011bfz.2_Intron	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 3 (UBA3), transcript variant 1, mRNA.	13					protein neddylation|proteolysis	nucleus	ATP binding|acid-amino acid ligase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		CCTCTATTCTCCTTCTTTTCTTC	0.665													-	69129292	CTT	-	69129290	7	5	131	1	0	1	0	1	0	0	0	0	16826	681	24	0	1424	0	UBA3	3	69129290	In_Frame_Del	DEL	CTT	TCGA-BR-A4QL-01A-31D-A25D-08	32190	69129290	128893140	406	76581											
CNTN3	5067	broad.mit.edu	37	chr3	74334537	74334537	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcccggacagccgtgtaatAggccaggttgctcttcaggc	13	12	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:74334537A>G	uc003dpm.1	-	19	2703	c.2623T>C	c.(2623-2625)TAT>CAT	p.Y875H		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	875	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GCCGTGTAATAGGCCAGGTTG	0.507													G	74334537	A	G	74334537	3	3	131	1	0	0	0	0	1	0	0	0	3642	420	15	3	479	3	CNTN3	3	74334537	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	5205247	74334537	123687893	407	76582											
ROBO1	6091	broad.mit.edu	37	chr3	78737895	78737895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaagcaacaacctggtcaCggggtttcacaacaaaatgt	8	11	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:78737895C>T	uc003dqe.2	-	9	1281	c.1073G>A	c.(1072-1074)CGT>CAT	p.R358H	ROBO1_uc003dqb.2_Missense_Mutation_p.R319H|ROBO1_uc003dqc.2_Missense_Mutation_p.R322H|ROBO1_uc003dqd.2_Missense_Mutation_p.R322H|ROBO1_uc010hoh.2_Translation_Start_Site|ROBO1_uc003dqf.1_Missense_Mutation_p.R37H	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	358	Extracellular (Potential).|Ig-like C2-type 4.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AACCTGGTCACGGGGTTTCAC	0.428													T	78737895	C	T	78737895	3	4	131	1	0	0	0	0	1	0	0	0	13513	536	19	1	3974	1	ROBO1	3	78737895	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4403358	78737895	119284535	408	76583											
ROBO1	6091	broad.mit.edu	37	chr3	78796030	78796030	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgacatccgaagggttttGtctgaagtcatcccgaagta	10	9	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:78796030G>A	uc003dqe.2	-	5	728	c.520C>T	c.(520-522)CAA>TAA	p.Q174*	ROBO1_uc003dqb.2_Nonsense_Mutation_p.Q135*|ROBO1_uc003dqc.2_Nonsense_Mutation_p.Q135*|ROBO1_uc003dqd.2_Nonsense_Mutation_p.Q135*	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	174	Extracellular (Potential).|Ig-like C2-type 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GAAGGGTTTTGTCTGAAGTCA	0.443													A	78796030	G	A	78796030	4	1	131	1	0	0	0	0	0	1	0	0	13513	1386	48	4	4556	4	ROBO1	3	78796030	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	58135	78796030	119226400	409	76584											
PROS1	5627	broad.mit.edu	37	chr3	93593131	93593131	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaactgatggacatgagtgAgctctaatatcattatgttt	8	6	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:93593131A>G	uc003drb.3	-	15	2330	c.1989T>C	c.(1987-1989)GCT>GCC	p.A663A	PROS1_uc010hoo.2_Silent_p.A532A|PROS1_uc003dqz.3_Silent_p.A532A	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	663	Laminin G-like 2.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GACATGAGTGAGCTCTAATAT	0.343													G	93593131	A	G	93593131	2	3	131	1	0	0	0	0	0	0	0	1	12558	291	11	3		3	PROS1	3	93593131	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	14797101	93593131	104429299	410	76585											
ARL13B	200894	broad.mit.edu	37	chr3	93761893	93761893	+	Frame_Shift_Del	DEL	A	A	-													tgaaagagagaaaaaaaaccAaaaaatggagaaagacagtg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:93761893delA	uc003drc.2	+	7	1119	c.833delA	c.(832-834)CAAfs	p.Q278fs	ARL13B_uc010hop.2_Frame_Shift_Del_p.Q129fs|ARL13B_uc003drd.2_Frame_Shift_Del_p.Q171fs|ARL13B_uc003dre.2_Frame_Shift_Del_p.Q263fs|ARL13B_uc003drf.2_Frame_Shift_Del_p.Q278fs|ARL13B_uc003drg.2_Frame_Shift_Del_p.Q175fs	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 2-like 1 isoform 1	278							GTP binding				0						AAAAAAAACCAAAAAATGGAG	0.328													-	93761893	A	-	93761893	7	5	131	1	0	1	0	1	0	0	0	0	929	130	5	0	859	0	ARL13B	3	93761893	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	168762	93761893	104260537	411	76586											
CLDND1	56650	broad.mit.edu	37	chr3	98235544	98235544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattaaggtgtactctttccGgttggtgtgagcagcccaga	12	9	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:98235544G>A	uc003dsp.2	-	5	1601	c.721C>T	c.(721-723)CGG>TGG	p.R241W	CLDND1_uc003dso.2_Intron|CLDND1_uc003dsq.2_Missense_Mutation_p.R241W|CLDND1_uc003dss.2_Missense_Mutation_p.R241W|CLDND1_uc003dsr.2_Missense_Mutation_p.R146W|CLDND1_uc003dst.2_Missense_Mutation_p.R264W|CLDND1_uc003dsu.2_Missense_Mutation_p.R241W|CLDND1_uc003dsv.2_Missense_Mutation_p.R241W	NM_019895	NP_063948	Q9NY35	CLDN1_HUMAN	claudin domain containing 1 protein isoform a	241						integral to membrane				ovary(1)	1						TACTCTTTCCGGTTGGTGTGA	0.428													A	98235544	G	A	98235544	3	1	131	1	0	0	0	0	1	0	0	0	3493	1115	39	1	44	1	CLDND1	3	98235544	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	4473651	98235544	99786886	412	76587											
GPR15	2838	broad.mit.edu	37	chr3	98251047	98251047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaccttgttctcatgggagCgttgcatttcaaacccggca	10	11	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:98251047C>T	uc011bgy.1	+	1	170	c.170C>T	c.(169-171)GCG>GTG	p.A57V		NM_005290	NP_005281	P49685	GPR15_HUMAN	G protein-coupled receptor 15	57	Cytoplasmic (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CTCATGGGAGCGTTGCATTTC	0.498													T	98251047	C	T	98251047	3	4	131	1	0	0	0	0	1	0	0	0	6655	768	27	1	172	1	GPR15	3	98251047	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	15503	98251047	99771383	413	76588											
CPOX	1371	broad.mit.edu	37	chr3	98300252	98300252	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgagttatctccttaccGggcagttagaggtaaagaca	10	7	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:98300252G>A	uc003dsx.2	-	6	1369	c.1276C>T	c.(1276-1278)CGA>TGA	p.R426*		NM_000097	NP_000088	P36551	HEM6_HUMAN	coproporphyrinogen oxidase precursor	426	Important for dimerization.					mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity				0						TCTCCTTACCGGGCAGTTAGA	0.413													A	98300252	G	A	98300252	4	1	131	1	0	0	0	0	0	1	0	0	3821	1130	39	1	96	1	CPOX	3	98300252	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	49205	98300252	99722178	414	76589											
FILIP1L	11259	broad.mit.edu	37	chr3	99568273	99568274	+	Frame_Shift_Ins	INS	-	-	T													tgttttcttgttgatttagtINStttttttgcaggactgagtg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:99568272_99568273G>GT	uc003dtm.3	-	4	2710_2711	c.2247_2248C>AC	c.(2245-2250)aaactafs	p.K749fs	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Frame_Shift_Ins_p.K749fs|FILIP1L_uc010hpf.3_Frame_Shift_Ins_p.K325fs|FILIP1L_uc010hpg.3_Frame_Shift_Ins_p.K509fs|FILIP1L_uc003dtn.3_Frame_Shift_Ins_p.K509fs|FILIP1L_uc021xbr.1_Frame_Shift_Ins_p.K509fs|FILIP1L_uc003dtp.1_Frame_Shift_Ins_p.K509fs	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	749						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGTTGATTTAGTTTTTTTTGCA	0.406													T	99568274	-	T	99568273	7	5	131	1	0	1	1	0	0	0	0	0	5895	1722	60	0	1189	0	FILIP1L	3	99568273	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1268021	99568273	98454157	415	76590											
TOMM70A	9868	broad.mit.edu	37	chr3	100096645	100096645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaaggtagctcgtagtagCaatgcttctgccatgtattt	10	7	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:100096645C>T	uc003dtw.2	-	6	1428	c.996G>A	c.(994-996)TTG>TTA	p.L332L		NM_014820	NP_055635	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70	332	Cytoplasmic (Potential).|TPR 4.				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			ovary(1)	1						CTCGTAGTAGCAATGCTTCTG	0.378													T	100096645	C	T	100096645	2	4	131	1	0	0	0	0	0	0	0	1	16359	709	25	2		2	TOMM70A	3	100096645	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	528372	100096645	97925785	416	76591											
BOC	91653	broad.mit.edu	37	chr3	112998720	112998720	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaacatgctgggggagagCgagcccagcgccccctctcg	14	15	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:112998720C>T	uc003dzx.2	+	13	2691	c.2070C>T	c.(2068-2070)AGC>AGT	p.S690S	BOC_uc003dzy.2_Silent_p.S690S|BOC_uc003dzz.2_Silent_p.S691S|BOC_uc003eab.2_Silent_p.S391S|BOC_uc003eac.2_Silent_p.S5S	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	690	Fibronectin type-III 2.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			TGGGGGAGAGCGAGCCCAGCG	0.612													T	112998720	C	T	112998720	2	4	131	1	0	0	0	0	0	0	0	1	1481	767	27	1		1	BOC	3	112998720	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	12902075	112998720	85023710	417	76592											
DRD3	1814	broad.mit.edu	37	chr3	113878640	113878640	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagattaaggatgctggcTgtacacatcatgacatccag	10	9	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:113878640T>C	uc003ebd.2	-	4	768	c.345A>G	c.(343-345)ACA>ACG	p.T115T	DRD3_uc010hqn.1_Silent_p.T115T|DRD3_uc003ebb.1_Silent_p.T115T|DRD3_uc003ebc.1_Silent_p.T115T	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	115	Helical; Name=3.				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GGATGCTGGCTGTACACATCA	0.507													C	113878640	T	C	113878640	2	2	131	1	0	0	0	0	0	0	0	1	4758	1567	55	3		3	DRD3	3	113878640	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	879920	113878640	84143790	418	76593											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-													cacctgggggtgtgcctgcaGggggggtcccattgctggca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:114058003delG	uc003ebi.2	-	5	2255	c.2075delC	c.(2074-2076)CCTfs	p.P692fs	ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P619fs	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632													-	114058003	G	-	114058003	7	5	131	1	0	1	0	1	0	0	0	0	17526	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	179363	114058003	83964427	419	76594											
POLQ	10721	broad.mit.edu	37	chr3	121251977	121251977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcattcaaccaggaagccaCaagctccaaattaggaaggg	10	10	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:121251977C>T	uc003eee.3	-	6	949	c.820G>A	c.(820-822)GTG>ATG	p.V274M		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	274	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		CAGGAAGCCACAAGCTCCAAA	0.423								DNA_polymerases_(catalytic_subunits)					T	121251977	C	T	121251977	3	4	131	1	0	0	0	0	1	0	0	0	12208	478	17	4	7052	4	POLQ	3	121251977	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	7193974	121251977	76770453	420	76595											
EAF2	55840	broad.mit.edu	37	chr3	121573659	121573660	+	Frame_Shift_Ins	INS	-	-	A													tcagcagcaacatcactgtaINSaaaaaaacaaggtatgtggt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:121573658_121573659T>TA	uc003een.3	+	2	425_426	c.326_327T>TA	c.(325-327)gtafs	p.V109fs	EAF2_uc003eeo.3_Intron	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	109					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		AACATCACTGTAAAAAAAACAA	0.248													A	121573660	-	A	121573659	7	5	131	1	0	1	1	0	0	0	0	0	4876	349	13	0	337	0	EAF2	3	121573659	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	321682	121573659	76448771	421	76596											
CASR	846	broad.mit.edu	37	chr3	121980530	121980530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacaattgcagctgatgaCgactatgggcggccggggat	16	9	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:121980530C>T	uc003eev.3	+	4	1020	c.648C>T	c.(646-648)GAC>GAT	p.D216D	CASR_uc003eew.3_Silent_p.D216D	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	216	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAGCTGATGACGACTATGGGC	0.537													T	121980530	C	T	121980530	2	4	131	1	0	0	0	0	0	0	0	1	2682	535	19	1		1	CASR	3	121980530	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	406871	121980530	76041900	422	76597											
ALDH1L1	10840	broad.mit.edu	37	chr3	125850310	125850310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagggccagcgtgtagaCggcacccgcatccagggcct	13	15	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:125850310C>T	uc003eim.1	-	13	1730	c.1540G>A	c.(1540-1542)GTC>ATC	p.V514I	ALDH1L1_uc010hse.1_Intron|ALDH1L1_uc011bki.1_Missense_Mutation_p.V413I|ALDH1L1_uc003eio.2_Missense_Mutation_p.V216I	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	514	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AGCGTGTAGACGGCACCCGCA	0.642													T	125850310	C	T	125850310	3	4	131	1	0	0	0	0	1	0	0	0	494	536	19	1	1212	1	ALDH1L1	3	125850310	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3869780	125850310	72172120	423	76598											
PLXNA1	5361	broad.mit.edu	37	chr3	126735391	126735391	+	Frame_Shift_Del	DEL	C	C	-													gtgagatccggtgcctgacaCcccccgggcagagccctggc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:126735391delC	uc003ejg.2	+	15	2981	c.2977delC	c.(2977-2979)CCCfs	p.P993fs		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1016	IPT/TIG 2.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		GTGCCTGACACCCCCCGGGCA	0.627													-	126735391	C	-	126735391	7	5	131	1	0	1	0	1	0	0	0	0	12119	507	18	0	3104	0	PLXNA1	3	126735391	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	885081	126735391	71287039	424	76599											
PLXNA1	5361	broad.mit.edu	37	chr3	126740964	126740964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagtcgctgacactgttcGggcagctgctgaccaagaag	13	10	0	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:126740964G>A	uc003ejg.2	+	21	4010	c.4006G>A	c.(4006-4008)GGG>AGG	p.G1336R		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1359	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		GACACTGTTCGGGCAGCTGCT	0.627													A	126740964	G	A	126740964	3	1	131	1	0	0	0	0	1	0	0	0	12119	1116	39	1	4157	1	PLXNA1	3	126740964	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	5573	126740964	71281466	425	76600											
PODXL2	50512	broad.mit.edu	37	chr3	127358266	127358266	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggctcaggcttccccagCgaagagaatgaagagtctcg	12	12	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:127358266C>T	uc003ejq.2	+	2	273	c.249C>T	c.(247-249)AGC>AGT	p.S83S		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2 precursor	83	Extracellular (Potential).				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			ovary(1)|central_nervous_system(1)	2						GCTTCCCCAGCGAAGAGAATG	0.602													T	127358266	C	T	127358266	2	4	131	1	0	0	0	0	0	0	0	1	12181	767	27	1		1	PODXL2	3	127358266	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	617302	127358266	70664164	426	76601											
ABTB1	80325	broad.mit.edu	37	chr3	127399266	127399266	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccatagaggaggcgcagcAgcgtctgcgggcactcgagg	17	12	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:127399266A>G	uc003ejt.2	+	12	1473	c.1385A>G	c.(1384-1386)CAG>CGG	p.Q462R	ABTB1_uc003ejr.2_Missense_Mutation_p.Q320R|ABTB1_uc003ejs.2_Missense_Mutation_p.Q437R|ABTB1_uc003eju.2_Missense_Mutation_p.Q320R|ABTB1_uc010hsm.2_Missense_Mutation_p.Q189R	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	462	Potential.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0						GAGGCGCAGCAGCGTCTGCGG	0.667													G	127399266	A	G	127399266	3	3	131	1	0	0	0	0	1	0	0	0	102	188	7	3	1431	3	ABTB1	3	127399266	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	41000	127399266	70623164	427	76602											
EEFSEC	60678	broad.mit.edu	37	chr3	127965713	127965713	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatctgatgatgctggtcatCgatgtgaccaaggggatgca	14	7	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:127965713C>T	uc003eki.2	+	2	389	c.351C>T	c.(349-351)ATC>ATT	p.I117I	EEFSEC_uc003ekj.2_Silent_p.I117I	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	117						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1						TGCTGGTCATCGATGTGACCA	0.522													T	127965713	C	T	127965713	2	4	131	1	0	0	0	0	0	0	0	1	4931	874	31	1		1	EEFSEC	3	127965713	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	566447	127965713	70056717	428	76603											
GATA2	2624	broad.mit.edu	37	chr3	128204753	128204753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagtagctaggcctgggcGcaggggactgccactttcca	13	12	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:128204753G>A	uc003ekm.3	-	4	1123	c.688C>T	c.(688-690)CGC>TGC	p.R230C	GATA2_uc003ekn.3_Missense_Mutation_p.R230C|GATA2_uc003eko.2_Missense_Mutation_p.R230C	NM_001145661	NP_001139133	P23769	GATA2_HUMAN	GATA binding protein 2 isoform 1	230					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(13)|lung(1)|skin(1)	15				GBM - Glioblastoma multiforme(114;0.173)		AGGCCTGGGCGCAGGGGACTG	0.642			Mis		AML(CML blast transformation)								A	128204753	G	A	128204753	3	1	131	1	0	0	0	0	1	0	0	0	6254	1087	38	1	770	1	GATA2	3	128204753	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	239040	128204753	69817677	429	76604											
ASTE1	28990	broad.mit.edu	37	chr3	130743281	130743281	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatggaacagcagagaagTtccttaacattttctcgatc	7	10	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:130743281T>C	uc003env.1	-	3	1312	c.870A>G	c.(868-870)GAA>GAG	p.E290E	NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Silent_p.E290E|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	290					DNA repair		nuclease activity				0						AGCAGAGAAGTTCCTTAACAT	0.433													C	130743281	T	C	130743281	2	2	131	1	0	0	0	0	0	0	0	1	1062	1722	60	3		3	ASTE1	3	130743281	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	2538528	130743281	67279149	430	76605											
DNAJC13	23317	broad.mit.edu	37	chr3	132175582	132175582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccaagaaggggatgtcGttgcttcaaatgcggaactt	12	8	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:132175582G>A	uc003eor.2	+	12	1320	c.1255G>A	c.(1255-1257)GTT>ATT	p.V419I	DNAJC13_uc010htq.1_Missense_Mutation_p.V419I|DNAJC13_uc003eos.1_Missense_Mutation_p.V86I	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	419							heat shock protein binding			ovary(1)|breast(1)	2						AGGGGATGTCGTTGCTTCAAA	0.438													A	132175582	G	A	132175582	3	1	131	1	0	0	0	0	1	0	0	0	4632	1145	40	1	1297	1	DNAJC13	3	132175582	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1432301	132175582	65846848	431	76606											
PPP2R3A	5523	broad.mit.edu	37	chr3	135722322	135722322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttttgattcagcagactcCagaggtgatcaaggtaagac	11	7	2	5			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:135722322C>T	uc003eqv.1	+	2	2547	c.1982C>T	c.(1981-1983)CCA>CTA	p.P661L	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	661					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						CAGCAGACTCCAGAGGTGATC	0.363													T	135722322	C	T	135722322	3	4	131	1	0	0	0	0	1	0	0	0	12388	594	21	4	1984	4	PPP2R3A	3	135722322	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3546740	135722322	62300108	432	76607											
ESYT3	83850	broad.mit.edu	37	chr3	138195072	138195072	+	Frame_Shift_Del	DEL	T	T	-													ttgcttcctaaagatttgaaTtttttgttcccatggaagaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:138195072delT	uc003esk.2	+	21	2702	c.2476delT	c.(2476-2478)TTTfs	p.F826fs		NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	826	C2 3.					integral to membrane|plasma membrane					0						AAGATTTGAATTTTTTGTTCC	0.353													-	138195072	T	-	138195072	7	5	131	1	0	1	0	1	0	0	0	0	5266	1493	52	0	2558	0	ESYT3	3	138195072	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	2472750	138195072	59827358	433	76608											
PRR23B	389151	broad.mit.edu	37	chr3	138738987	138738987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagagcccagcggctgagcCggttggggagtccatccgga	17	11	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:138738987C>T	uc003esy.1	-	1	782	c.517G>A	c.(517-519)GGC>AGC	p.G173S		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	proline rich 23B	173										breast(1)	1						GCGGCTGAGCCGGTTGGGGAG	0.652													T	138738987	C	T	138738987	3	4	131	1	0	0	0	0	1	0	0	0	12595	652	23	1	284	1	PRR23B	3	138738987	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	543915	138738987	59283443	434	76609											
ZBTB38	253461	broad.mit.edu	37	chr3	141163979	141163979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccactgacaaaccgtggCgcccttactacaactacaaa	5	14	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:141163979C>T	uc003etw.2	+	8	3731	c.2749C>T	c.(2749-2751)CGC>TGC	p.R917C	ZBTB38_uc010hun.2_Missense_Mutation_p.R914C|ZBTB38_uc010huo.2_Missense_Mutation_p.R917C|ZBTB38_uc003ety.2_Missense_Mutation_p.R917C|ZBTB38_uc010hup.2_Missense_Mutation_p.R918C	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	917					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CAAACCGTGGCGCCCTTACTA	0.507													T	141163979	C	T	141163979	3	4	131	1	0	0	0	0	1	0	0	0	17536	768	27	1	2751	1	ZBTB38	3	141163979	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2424992	141163979	56858451	435	76610											
CHST2	9435	broad.mit.edu	37	chr3	142840163	142840163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagcggcagctggtgtacGtgttcaccacgtggcgctct	13	12	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:142840163G>A	uc003evm.2	+	2	1394	c.505G>A	c.(505-507)GTG>ATG	p.V169M		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	169	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3						GCTGGTGTACGTGTTCACCAC	0.652													A	142840163	G	A	142840163	3	1	131	1	0	0	0	0	1	0	0	0	3404	1145	40	1	507	1	CHST2	3	142840163	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1676184	142840163	55182267	436	76611											
CLRN1	7401	broad.mit.edu	37	chr3	150645745	150645745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtacattagatctgcagctAcattagttgtttctgcgtct	8	8	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:150645745A>G	uc003eyk.1	-	3	968	c.677T>C	c.(676-678)GTA>GCA	p.V226A	CLRN1OS_uc011bny.1_Intron|CLRN1_uc003eyj.2_Intron	NM_174878	NP_777367	P58418	CLRN1_HUMAN	clarin 1 isoform a	226					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane					0			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ATCTGCAGCTACATTAGTTGT	0.358													G	150645745	A	G	150645745	3	3	131	1	0	0	0	0	1	0	0	0	3557	391	14	3	50	3	CLRN1	3	150645745	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	7805582	150645745	47376685	437	76612											
IGSF10	285313	broad.mit.edu	37	chr3	151154554	151154554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcatttgtatatcccagaatCggaggtttggggattctgaa	12	6	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:151154554C>T	uc011bod.1	-	6	7795	c.7795G>A	c.(7795-7797)GAT>AAT	p.D2599N	IGSF10_uc011bob.1_Missense_Mutation_p.D626N|IGSF10_uc011boc.1_Missense_Mutation_p.D578N	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	2599	Ig-like C2-type 12.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATCCCAGAATCGGAGGTTTGG	0.423													T	151154554	C	T	151154554	3	4	131	1	0	0	0	0	1	0	0	0	7597	884	31	1	80	1	IGSF10	3	151154554	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	508809	151154554	46867876	438	76613											
IGSF10	285313	broad.mit.edu	37	chr3	151164291	151164291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacacacgtgggtaactggCgtttactttgtgagtttttt	11	6	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:151164291C>T	uc011bod.1	-	4	3478	c.3478G>A	c.(3478-3480)GCC>ACC	p.A1160T		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1160					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGGTAACTGGCGTTTACTTTG	0.413													T	151164291	C	T	151164291	3	4	131	1	0	0	0	0	1	0	0	0	7597	768	27	1	4453	1	IGSF10	3	151164291	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	9737	151164291	46858139	439	76614											
DHX36	170506	broad.mit.edu	37	chr3	153998375	153998376	+	Frame_Shift_Ins	INS	-	-	T													ttcaatgcttacatttttctINSttttttacccaaatttagtc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:153998374_153998375C>CT	uc003ezy.4	-	21	2641_2642	c.2560_2561G>AG	c.(2560-2562)agafs	p.R854fs	DHX36_uc010hvq.3_Frame_Shift_Ins_p.R840fs|DHX36_uc003ezz.4_Frame_Shift_Ins_p.R825fs	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	854						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTACATTTTTCTTTTTTTACCC	0.297													T	153998376	-	T	153998375	7	5	131	1	0	1	1	0	0	0	0	0	4509	1617	56	0	482	0	DHX36	3	153998375	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	2834084	153998375	44024055	440	76615											
SCHIP1	29970	broad.mit.edu	37	chr3	159583997	159583997	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagacagaagttggcacttGgaagcttctttgatgatggc	12	7	2	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:159583997G>T	uc003fcs.1	+	3	871	c.805G>T	c.(805-807)GGA>TGA	p.G269*	SCHIP1_uc003fcq.1_Nonsense_Mutation_p.G345*|SCHIP1_uc003fcr.1_Nonsense_Mutation_p.G258*|SCHIP1_uc003fct.1_Nonsense_Mutation_p.G256*|SCHIP1_uc010hvz.1_Nonsense_Mutation_p.G229*|SCHIP1_uc003fcu.1_Nonsense_Mutation_p.G26*|SCHIP1_uc003fcv.1_Nonsense_Mutation_p.G42*	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	schwannomin interacting protein 1	269						cytoplasm	identical protein binding|protein binding			ovary(1)|central_nervous_system(1)	2			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			GTTGGCACTTGGAAGCTTCTT	0.408													T	159583997	G	T	159583997	4	4	131	1	0	0	0	0	0	1	0	0	13904	1349	47	5	815	5	SCHIP1	3	159583997	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	5585622	159583997	38438433	441	76616											
SMC4	10051	broad.mit.edu	37	chr3	160141239	160141239	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatgggcgaaaaagatgacCgaaattcaaactcctgaaaa	9	7	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:160141239C>T	uc003fdh.2	+	14	2159	c.2046C>T	c.(2044-2046)ACC>ACT	p.T682T	IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Silent_p.T446T|SMC4_uc003fdi.2_Silent_p.T657T|SMC4_uc003fdj.2_Silent_p.T682T|SMC4_uc010hwd.2_Silent_p.T682T|SMC4_uc003fdl.2_Silent_p.T385T	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	682	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAAAGATGACCGAAATTCAAA	0.279													T	160141239	C	T	160141239	2	4	131	1	0	0	0	0	0	0	0	1	14785	639	23	1		1	SMC4	3	160141239	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	557242	160141239	37881191	442	76617											
SMC4	10051	broad.mit.edu	37	chr3	160150302	160150302	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctgaaggaatcatgttcAggtgtgtaattatgctgagt	11	5	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:160150302A>G	uc003fdh.2	+	22	3642	c.3529A>G	c.(3529-3531)AGT>GGT	p.S1177G	IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.S1152G|SMC4_uc003fdj.2_Missense_Mutation_p.S1177G|SMC4_uc010hwd.2_Missense_Mutation_p.S1119G|SMC4_uc003fdl.2_Missense_Mutation_p.S880G	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	1177					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AATCATGTTCAGGTGTGTAAT	0.388													G	160150302	A	G	160150302	3	3	131	1	0	0	0	0	1	0	0	0	14785	202	7	3	3611	3	SMC4	3	160150302	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	9063	160150302	37872128	443	76618											
TRIM59	286827	broad.mit.edu	37	chr3	160155773	160155774	+	Frame_Shift_Ins	INS	-	-	G													acattttcaatgggaaactaINSttttccacacaaattccttc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:160155773_160155774insG	uc003fdm.2	-	3	1393_1394	c.1198_1199insC	c.(1198-1200)ATAfs	p.I400fs	IFT80_uc003fda.2_Intron	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	tripartite motif-containing 59	400						integral to membrane|intracellular	zinc ion binding				0			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATGGGAAACTATTTTCCACACA	0.337													G	160155774	-	G	160155773	7	5	131	1	0	1	1	0	0	0	0	0	16529	449	16	0	16	0	TRIM59	3	160155773	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	5471	160155773	37866657	444	76619	352	2									
TRIM59	286827	broad.mit.edu	37	chr3	160155774	160155775	+	Frame_Shift_Ins	INS	-	-	G													cattttcaatgggaaactatINStttccacacaaattccttca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:160155773_160155774A>AG	uc003fdm.3	-	2	1393_1394	c.1198_1199T>CT	c.(1198-1200)atafs	p.I400fs	IFT80_uc003fda.3_Intron|TRIM59_uc021xgt.1_Frame_Shift_Ins_p.I400fs	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	Homo sapiens tripartite motif containing 59 (TRIM59), mRNA.	400						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATGGGAAACTATTTTCCACACA	0.337													G	160155775	-	G	160155774	7	5	131	1	0	1	1	0	0	0	0	0	16529	1493	52	0	17	0	TRIM59	3	160155774	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	160155774	37866656	445	76620	352	2									
WDR49	151790	broad.mit.edu	37	chr3	167249049	167249049	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctcccagcactgagaAgtttttgaggttttgtatct	10	8	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:167249049A>G	uc003fev.1	-	9	1322	c.1016T>C	c.(1015-1017)CTT>CCT	p.L339P	WDR49_uc003feu.1_Missense_Mutation_p.L164P|WDR49_uc011bpd.1_Missense_Mutation_p.L403P|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	339										large_intestine(1)|ovary(1)|skin(1)	3						AGCACTGAGAAGTTTTTGAGG	0.448													G	167249049	A	G	167249049	3	3	131	1	0	0	0	0	1	0	0	0	17299	72	3	3	1105	3	WDR49	3	167249049	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	7093275	167249049	30773381	446	76621											
PLD1	5337	broad.mit.edu	37	chr3	171455828	171455829	+	Frame_Shift_Ins	INS	-	-	T													ggtatttacccgtggctcgtINSttttcagtgacatgttaact					rs145738077	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:171455827_171455828G>GT	uc003fhs.3	-	1	361_362	c.14_15C>AC	c.(13-15)aacfs	p.N5fs	PLD1_uc003fht.3_Frame_Shift_Ins_p.N5fs	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	5					Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CCCGTGGCTCGTTTTTCAGTGA	0.411													T	171455829	-	T	171455828	7	5	131	1	0	1	1	0	0	0	0	0	12045	1725	60	0	3314	0	PLD1	3	171455828	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	4206779	171455828	26566602	447	76622											
TNFSF10	8743	broad.mit.edu	37	chr3	172241171	172241171	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccctggacctccatcatagCcatgatcctgtcagagtctg	8	15	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:172241171C>A	uc003fid.2	-	1	99	c.4G>T	c.(4-6)GCT>TCT	p.A2S	TNFSF10_uc003fie.2_Missense_Mutation_p.A2S|TNFSF10_uc010hwu.1_RNA	NM_003810	NP_003801	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily,	2	Cytoplasmic (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			skin(4)|lung(1)	5	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TCCATCATAGCCATGATCCTG	0.527													A	172241171	C	A	172241171	3	1	131	1	0	0	0	0	1	0	0	0	16298	739	26	5	861	5	TNFSF10	3	172241171	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	785343	172241171	25781259	448	76623											
NCEH1	57552	broad.mit.edu	37	chr3	172351781	172351781	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggattggggtgttcacAttttgctgataagatggtgt	15	4	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:172351781A>G	uc011bpx.1	-	5	969	c.831T>C	c.(829-831)AAT>AAC	p.N277N	NCEH1_uc003fig.2_Silent_p.N269N|NCEH1_uc011bpw.1_Silent_p.N104N|NCEH1_uc011bpy.1_Silent_p.N104N	NM_001146276	NP_001139748	Q6PIU2	NCEH1_HUMAN	arylacetamide deacetylase-like 1 isoform a	237	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity				0						GGGTGTTCACATTTTGCTGAT	0.393													G	172351781	A	G	172351781	2	3	131	1	0	0	0	0	0	0	0	1	10215	214	8	3		3	NCEH1	3	172351781	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	110610	172351781	25670649	449	76624											
ACTL6A	86	broad.mit.edu	37	chr3	179298752	179298752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtgattttggtgcagagCggctaaagattccagaagga	13	5	0	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:179298752C>T	uc003fjw.2	+	10	1074	c.901C>T	c.(901-903)CGG>TGG	p.R301W	ACTL6A_uc003fjx.2_Missense_Mutation_p.R259W|ACTL6A_uc003fjy.2_Missense_Mutation_p.R259W	NM_004301	NP_004292	O96019	ACL6A_HUMAN	actin-like 6A isoform 1	301					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			ovary(1)	1	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TGGTGCAGAGCGGCTAAAGAT	0.368													T	179298752	C	T	179298752	3	4	131	1	0	0	0	0	1	0	0	0	198	759	27	1	939	1	ACTL6A	3	179298752	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	6946971	179298752	18723678	450	76625											
LAMP3	27074	broad.mit.edu	37	chr3	182870248	182870248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagttcccagaggcttgcGttgcgttggggtcgatgttg	15	9	0	1	rs151059567	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:182870248G>A	uc003flh.3	-	3	1027	c.803C>T	c.(802-804)ACG>ATG	p.T268M		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	268	Lumenal (Potential).				cell proliferation	integral to membrane|lysosomal membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AGAGGCTTGCGTTGCGTTGGG	0.458													A	182870248	G	A	182870248	3	1	131	1	0	0	0	0	1	0	0	0	8619	1145	40	1	463	1	LAMP3	3	182870248	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	3571496	182870248	15152182	451	76626											
MCF2L2	23101	broad.mit.edu	37	chr3	183035921	183035921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggatagcatgcttctggGcagctctgctgtggccaggc	15	11	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:183035921G>A	uc003fli.1	-	7	778	c.688C>T	c.(688-690)CCC>TCC	p.P230S	MCF2L2_uc003flj.1_Missense_Mutation_p.P230S|MCF2L2_uc003flp.1_Missense_Mutation_p.P265S	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	230					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ATGCTTCTGGGCAGCTCTGCT	0.572													A	183035921	G	A	183035921	3	1	131	1	0	0	0	0	1	0	0	0	9380	1203	42	2	2752	2	MCF2L2	3	183035921	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	165673	183035921	14986509	452	76627											
ABCC5	10057	broad.mit.edu	37	chr3	183665239	183665239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagccgcacagccagccacCgcatcgcacacgtaaacaaa	7	18	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:183665239C>T	uc003fmg.2	-	23	3452	c.3287G>A	c.(3286-3288)CGG>CAG	p.R1096Q	ABCC5_uc011bqt.1_Missense_Mutation_p.R624Q|ABCC5_uc010hxl.2_Missense_Mutation_p.R1053Q	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1096	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGCCAGCCACCGCATCGCACA	0.527													T	183665239	C	T	183665239	3	4	131	1	0	0	0	0	1	0	0	0	56	652	23	1	1058	1	ABCC5	3	183665239	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	629318	183665239	14357191	453	76628											
DVL3	1857	broad.mit.edu	37	chr3	183885455	183885455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatcagggttggaggtccGtgaccgcatgtggctcaaga	15	8	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:183885455G>A	uc003fms.2	+	12	1426	c.1286G>A	c.(1285-1287)CGT>CAT	p.R429H	DVL3_uc011bqw.1_Missense_Mutation_p.R412H|DVL3_uc003fmt.2_Missense_Mutation_p.R100H|DVL3_uc003fmu.2_Missense_Mutation_p.R261H	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	429	DEP.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			TTGGAGGTCCGTGACCGCATG	0.572													A	183885455	G	A	183885455	3	1	131	1	0	0	0	0	1	0	0	0	4837	1145	40	1	1332	1	DVL3	3	183885455	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	220216	183885455	14136975	454	76629											
PSMD2	5708	broad.mit.edu	37	chr3	184018118	184018118	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctggaggaattgcgaaggcaGattcgttcttctacaacttc	10	9	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:184018118G>C	uc003fnn.1	+	3	276	c.243G>C	c.(241-243)CAG>CAC	p.Q81H	PSMD2_uc011brj.1_5'Flank|PSMD2_uc011brk.1_5'Flank	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	81					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TGCGAAGGCAGATTCGTTCTT	0.488													C	184018118	G	C	184018118	3	2	131	1	0	0	0	0	1	0	0	0	12698	933	33	5	253	5	PSMD2	3	184018118	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	132663	184018118	14004312	455	76630											
EHHADH	1962	broad.mit.edu	37	chr3	184910086	184910086	+	Frame_Shift_Del	DEL	T	T	-													gggtttccctgagaagccagTttttttagatagtcacttgg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:184910086delT	uc003fpf.2	-	7	2127	c.2100delA	c.(2098-2100)AAAfs	p.K700fs	EHHADH_uc011brs.1_Frame_Shift_Del_p.K604fs	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	700						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GAGAAGCCAGTTTTTTTAGAT	0.463													-	184910086	T	-	184910086	7	5	131	1	0	1	0	1	0	0	0	0	4982	1722	60	0	75	0	EHHADH	3	184910086	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	891968	184910086	13112344	456	76631											
TBCCD1	55171	broad.mit.edu	37	chr3	186274567	186274567	+	Splice_Site	DEL	A	A	-													actgtaatcattccagttctAaaaaaaagttaaaagaaagc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:186274566_186274566TA>T	uc003fqg.3	-	4	622	c.493_splice	c.e4-1	p.N165_splice	TBCCD1_uc011bry.2_Splice_Site_p.N165_splice|TBCCD1_uc003fqh.3_Splice_Site_p.N69_splice	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	Homo sapiens TBCC domain containing 1 (TBCCD1), transcript variant 2, mRNA.	165					cell morphogenesis|maintenance of Golgi location|maintenance of centrosome location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		ATTCCAGTTCTAAAAAAAAGT	0.328													-	186274567	A	-	186274567	8	5	131	1	0	1	0	1	0	0	1	0	15629	377	13	0		0	TBCCD1	3	186274567	Splice_Site	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	1364481	186274567	11747863	457	76632											
RTP1	132112	broad.mit.edu	37	chr3	186915363	186915363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacctaccctcactctcCgtgttctcactaaggtggaa	7	15	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:186915363C>T	uc003frg.2	+	1	90	c.60C>T	c.(58-60)TCC>TCT	p.S20S		NM_153708	NP_714919	P59025	RTP1_HUMAN	receptor transporting protein 1	20	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)		CCTCACTCTCCGTGTTCTCAC	0.522													T	186915363	C	T	186915363	2	4	131	1	0	0	0	0	0	0	0	1	13733	639	23	1		1	RTP1	3	186915363	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	640796	186915363	11107067	458	76633											
RTP2	344892	broad.mit.edu	37	chr3	187416477	187416477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctgggcttccagtgaaCgatgccctcctggcaggcct	12	15	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:187416477C>T	uc003fro.1	-	2	916	c.487G>A	c.(487-489)GTT>ATT	p.V163I		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	receptor transporting protein 2	163	Cytoplasmic (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding				0	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		TTCCAGTGAACGATGCCCTCC	0.652													T	187416477	C	T	187416477	3	4	131	1	0	0	0	0	1	0	0	0	13734	536	19	1	194	1	RTP2	3	187416477	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	501114	187416477	10605953	459	76634											
TPRG1	285386	broad.mit.edu	37	chr3	189038590	189038590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttggctattcccttgcccGtgggagtattggtttttgag	12	8	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:189038590G>A	uc003frv.1	+	11	2036	c.809G>A	c.(808-810)CGT>CAT	p.R270H	TPRG1_uc003frw.1_Missense_Mutation_p.R270H	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	270											0	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		TCCCTTGCCCGTGGGAGTATT	0.413													A	189038590	G	A	189038590	3	1	131	1	0	0	0	0	1	0	0	0	16415	1145	40	1	827	1	TPRG1	3	189038590	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1622113	189038590	8983840	460	76635											
CCDC50	152137	broad.mit.edu	37	chr3	191087798	191087798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgcaacccgtgcttatGcagatagttactattatgaa	7	10	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:191087798G>A	uc003fsw.2	+	5	1011	c.421G>A	c.(421-423)GCA>ACA	p.A141T	CCDC50_uc003fsv.2_Missense_Mutation_p.A141T	NM_174908	NP_777568	Q8IVM0	CCD50_HUMAN	Ymer protein short isoform	141						cytoplasm	protein binding				0	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		CCGTGCTTATGCAGATAGTTA	0.383													A	191087798	G	A	191087798	3	1	131	1	0	0	0	0	1	0	0	0	2820	1319	46	2	439	2	CCDC50	3	191087798	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2049208	191087798	6934632	461	76636											
C3orf59	151963	broad.mit.edu	37	chr3	192516769	192516769	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttcttcaactgcacctcGctcctggcaaaggacagccg	8	16	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:192516769G>A	uc011bsp.1	-	2	1203	c.882C>T	c.(880-882)AGC>AGT	p.S294S		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	hypothetical protein LOC151963	294											0	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)		ACTGCACCTCGCTCCTGGCAA	0.517													A	192516769	G	A	192516769	2	1	131	1	0	0	0	0	0	0	0	1	2237	1078	38	1		1	C3orf59	3	192516769	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1428971	192516769	5505661	462	76637											
OPA1	4976	broad.mit.edu	37	chr3	193336664	193336664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttatctttaaggttctcCggaagaaacggcgtttagag	10	6	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:193336664C>T	uc003ftm.2	+	5	797	c.563C>T	c.(562-564)CCG>CTG	p.P188L	OPA1_uc003ftg.2_Missense_Mutation_p.P206L|OPA1_uc003fth.2_Missense_Mutation_p.P170L|OPA1_uc003fti.2_Missense_Mutation_p.P188L|OPA1_uc003ftj.2_Missense_Mutation_p.P206L|OPA1_uc003ftk.2_Missense_Mutation_p.P152L|OPA1_uc003ftl.2_Missense_Mutation_p.P170L|OPA1_uc003ftn.2_Missense_Mutation_p.P152L	NM_015560	NP_056375	O60313	OPA1_HUMAN	optic atrophy 1 isoform 1	188	Mitochondrial intermembrane (By similarity).				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding				0	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TAAGGTTCTCCGGAAGAAACG	0.378													T	193336664	C	T	193336664	3	4	131	1	0	0	0	0	1	0	0	0	10871	652	23	1	639	1	OPA1	3	193336664	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	819895	193336664	4685766	463	76638											
ACAP2	23527	broad.mit.edu	37	chr3	195013108	195013108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggtttttttcatatgaCgccctataaagctgaagtcc	9	8	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:195013108C>T	uc003fun.3	-	19	2080	c.1839G>A	c.(1837-1839)GCG>GCA	p.A613A		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	centaurin, beta 2	613					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)	2						TTTCATATGACGCCCTATAAA	0.413													T	195013108	C	T	195013108	2	4	131	1	0	0	0	0	0	0	0	1	119	523	19	1		1	ACAP2	3	195013108	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1676444	195013108	3009322	464	76639											
PCYT1A	5130	broad.mit.edu	37	chr3	195966504	195966504	+	Frame_Shift_Del	DEL	T	T	-													cttctgaatgaggtcaatgcTtttttcctccaccttctgaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:195966504delT	uc003fwg.2	-	9	984	c.811delA	c.(811-813)AGCfs	p.S271fs	uc003fwf.1_5'Flank|PCYT1A_uc003fwh.2_Frame_Shift_Del_p.S271fs	NM_005017	NP_005008	P49585	PCY1A_HUMAN	choline phosphate cytidylyltransferase 1 alpha	271	3 X 11 AA approximate tandem repeats.|Amphipathic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity				0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	AGGTCAATGCTTTTTTCCTCC	0.423													-	195966504	T	-	195966504	7	5	131	1	0	1	0	1	0	0	0	0	11610	1609	56	0	300	0	PCYT1A	3	195966504	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	953396	195966504	2055926	465	76640											
RNF168	165918	broad.mit.edu	37	chr3	196229935	196229935	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtcgactggaagcacggtTtacacagcgtgtggttacac	13	10	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:196229935T>C	uc003fwq.2	-	1	648	c.110A>G	c.(109-111)AAA>AGA	p.K37R	RNF168_uc010iah.2_5'UTR	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	ring finger protein 168	37	RING-type.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GAAGCACGGTTTACACAGCGT	0.587													C	196229935	T	C	196229935	3	2	131	1	0	0	0	0	1	0	0	0	13459	1841	64	3	1629	3	RNF168	3	196229935	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	263431	196229935	1792495	466	76641											
LRRC33	375387	broad.mit.edu	37	chr3	196386950	196386950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtcaggaaacgccctgacgGaggacatggcagccctcatg	13	12	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:196386950G>A	uc003fwv.2	+	3	540	c.436G>A	c.(436-438)GAG>AAG	p.E146K		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	146	Extracellular (Potential).|LRR 4.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CGCCCTGACGGAGGACATGGC	0.662													A	196386950	G	A	196386950	3	1	131	1	0	0	0	0	1	0	0	0	8988	1175	41	4	442	4	LRRC33	3	196386950	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	157015	196386950	1635480	467	76642											
DLG1	1739	broad.mit.edu	37	chr3	196792302	196792302	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatctacctcataatctcGttttggtctagttgtatctt	5	10	5	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:196792302G>A	uc003fxo.3	-	23	2441	c.2251C>T	c.(2251-2253)CGA>TGA	p.R751*	DLG1_uc011bub.1_Nonsense_Mutation_p.R647*|DLG1_uc011buc.1_Nonsense_Mutation_p.R635*|DLG1_uc011bud.1_Nonsense_Mutation_p.R434*|DLG1_uc003fxn.3_Nonsense_Mutation_p.R773*|DLG1_uc011bue.1_Nonsense_Mutation_p.R739*|DLG1_uc010ial.2_Nonsense_Mutation_p.R751*	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	751	Guanylate kinase-like.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TCATAATCTCGTTTTGGTCTA	0.313													A	196792302	G	A	196792302	4	1	131	1	0	0	0	0	0	1	0	0	4554	1153	40	1	479	1	DLG1	3	196792302	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	405352	196792302	1230128	468	76643											
DLG1	1739	broad.mit.edu	37	chr3	196793609	196793609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggttcataagataagacGtattcttcttgaccacctat	6	9	3	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr3:196793609G>A	uc003fxo.3	-	21	2287	c.2097C>T	c.(2095-2097)TAC>TAT	p.Y699Y	DLG1_uc011bub.1_Silent_p.Y595Y|DLG1_uc011buc.1_Silent_p.Y583Y|DLG1_uc011bud.1_Silent_p.Y382Y|DLG1_uc003fxn.3_Silent_p.Y721Y|DLG1_uc011bue.1_Silent_p.Y687Y|DLG1_uc010ial.2_Silent_p.Y699Y	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	699					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		AAGATAAGACGTATTCTTCTT	0.303													A	196793609	G	A	196793609	2	1	131	1	0	0	0	0	0	0	0	1	4554	1140	40	1		1	DLG1	3	196793609	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1307	196793609	1228821	469	76644											
PDE6B	5158	broad.mit.edu	37	chr4	661762	661762	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtgaaggctctggaggagAaggaggaggaggagagggtg	22	2	1	3	rs138682290	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:661762A>G	uc003gap.2	+	21	2523	c.2470A>G	c.(2470-2472)AAG>GAG	p.K824E	PDE6B_uc003gao.3_Missense_Mutation_p.K824E|PDE6B_uc011buy.1_Missense_Mutation_p.K545E|PDE6B_uc011buz.1_Missense_Mutation_p.K256E	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	824					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						TCTGGAGGAGAAGGAGGAGGA	0.562													G	661762	A	G	661762	3	3	131	1	0	0	0	0	1	0	0	0	11646	247	9	3	2552	3	PDE6B	4	661762	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08		661762	190492514	470	76645											
PCGF3	10336	broad.mit.edu	37	chr4	728799	728799	+	Frame_Shift_Del	DEL	C	C	-													attgtgatccaccagagccaCcccctgcagtacatcgggtg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:728798_728798AC>A	uc011bva.1	+	5	663	c.188_188AC>A	c.(187-189)cacfs	p.H63fs	PCGF3_uc003gbc.1_Non-coding_Transcript|PCGF3_uc003gbd.1_Non-coding_Transcript|PCGF3_uc003gbe.3_Frame_Shift_Del_p.H63fs|PCGF3_uc010ibh.3_Frame_Shift_Del_p.H63fs|PCGF3_uc003gbh.3_Frame_Shift_Del_p.H29fs	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN	Homo sapiens polycomb group ring finger 3 (PCGF3), mRNA.	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						CACCAGAGCCACCCCCTGCAG	0.607													-	728799	C	-	728799	7	5	131	1	0	1	0	1	0	0	0	0	11576	506	18	0	195	0	PCGF3	4	728799	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	67037	728799	190425477	471	76646											
OTOP1	133060	broad.mit.edu	37	chr4	4199699	4199699	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcccgatgttcttccacaGgacgtagagcattgtggagg	14	10	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:4199699G>A	uc003ghp.1	-	5	892	c.862C>T	c.(862-864)CTG>TTG	p.L288L		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	288	Helical; (Potential).				biomineral tissue development	extracellular space|integral to membrane				ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTCTTCCACAGGACGTAGAGC	0.562													A	4199699	G	A	4199699	2	1	131	1	0	0	0	0	0	0	0	1	11305	991	35	4		4	OTOP1	4	4199699	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	3470900	4199699	186954577	472	76647											
EVC2	132884	broad.mit.edu	37	chr4	5620262	5620262	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgaactctgcttctcgccaCgcagtctgaaattgctgcag	9	13	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:5620262C>T	uc003gij.2	-	15	2703	c.2649G>A	c.(2647-2649)GCG>GCA	p.A883A	EVC2_uc011bwb.1_Silent_p.A323A|EVC2_uc003gik.2_Silent_p.A803A	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	883						integral to membrane				large_intestine(3)|ovary(2)	5						CTTCTCGCCACGCAGTCTGAA	0.612													T	5620262	C	T	5620262	2	4	131	1	0	0	0	0	0	0	0	1	5286	523	19	1		1	EVC2	4	5620262	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1420563	5620262	185534014	473	76648											
EVC	2121	broad.mit.edu	37	chr4	5803693	5803693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaggacactgatggaggCggcagtggagagcgtctacg	17	8	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:5803693C>T	uc003gil.1	+	16	2505	c.2321C>T	c.(2320-2322)GCG>GTG	p.A774V	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	774					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				CTGATGGAGGCGGCAGTGGAG	0.607													T	5803693	C	T	5803693	3	4	131	1	0	0	0	0	1	0	0	0	5285	768	27	1	2383	1	EVC	4	5803693	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	183431	5803693	185350583	474	76649											
C4orf50	389197	broad.mit.edu	37	chr4	5990091	5990091	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccatggggccattgctcaGggagctcagagcttgcccct	12	13	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:5990091G>T	uc003git.1	-	1	76	c.-14C>A	c.(-16--12)CCCTG>CCATG			NM_207405	NP_997288	Q6ZRC1	CD050_HUMAN	hypothetical protein LOC389197											pancreas(2)|breast(1)	3						CCATTGCTCAGGGAGCTCAGA	0.493													T	5990091	G	T	5990091	1	4	131	1	0	0	0	0	0	0	0	0	2276	1015	35	5		5	C4orf50	4	5990091	Translation_Start_Site	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	186398	5990091	185164185	475	76650											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107463	6107463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtcggccgcgccgtcgcGcagcacgttcagcgtggcct	14	16	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:6107463G>A	uc003giu.3	-	3	637	c.361C>T	c.(361-363)CGC>TGC	p.R121C	JAKMIP1_uc010idb.1_Missense_Mutation_p.R121C|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.R121C|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.R121C|JAKMIP1_uc010ide.2_Missense_Mutation_p.R121C	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	121	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						GCGCCGTCGCGCAGCACGTTC	0.731													A	6107463	G	A	6107463	3	1	131	1	0	0	0	0	1	0	0	0	7940	1087	38	1	2285	1	JAKMIP1	4	6107463	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	117372	6107463	185046813	476	76651											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107671	6107671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctccagcttcgcctcctgCagccgctcgcgcagtttgcc	10	19	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:6107671C>T	uc003giu.3	-	3	429	c.153G>A	c.(151-153)CTG>CTA	p.L51L	JAKMIP1_uc010idb.1_Silent_p.L51L|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Silent_p.L51L|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Silent_p.L51L|JAKMIP1_uc010ide.2_Silent_p.L51L	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	51	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						TCGCCTCCTGCAGCCGCTCGC	0.527													T	6107671	C	T	6107671	2	4	131	1	0	0	0	0	0	0	0	1	7940	697	25	2		2	JAKMIP1	4	6107671	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	208	6107671	185046605	477	76652											
SORCS2	57537	broad.mit.edu	37	chr4	7725544	7725544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgagagccccggcatctacCgcgtgtccgtcagggcagag	14	14	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:7725544C>T	uc003gkb.3	+	19	2545	c.2545C>T	c.(2545-2547)CGC>TGC	p.R849C	SORCS2_uc011bwi.1_Missense_Mutation_p.R677C	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor	849	PKD.|Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2						CGGCATCTACCGCGTGTCCGT	0.522													T	7725544	C	T	7725544	3	4	131	1	0	0	0	0	1	0	0	0	14931	652	23	1	2619	1	SORCS2	4	7725544	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1617873	7725544	183428732	478	76653											
SH3TC1	54436	broad.mit.edu	37	chr4	8228895	8228895	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctgcttggaagccgaggatGactgggaggacccagaggcc	16	10	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:8228895G>A	uc003gkv.3	+	12	1575	c.1474G>A	c.(1474-1476)GAC>AAC	p.D492N	SH3TC1_uc003gkw.3_Missense_Mutation_p.D416N|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	492							binding			large_intestine(2)|pancreas(1)	3						AGCCGAGGATGACTGGGAGGA	0.662													A	8228895	G	A	8228895	3	1	131	1	0	0	0	0	1	0	0	0	14261	1290	45	4	1516	4	SH3TC1	4	8228895	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	503351	8228895	182925381	479	76654											
ACOX3	8310	broad.mit.edu	37	chr4	8398744	8398744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggctgagaagcgaagagCgatggccacggccagcttta	15	9	0	2	rs116281866	by1000genomes	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:8398744C>T	uc010idk.2	-	9	1121	c.976G>A	c.(976-978)GCT>ACT	p.A326T	ACOX3_uc003glc.3_Missense_Mutation_p.A326T|ACOX3_uc003gld.3_Missense_Mutation_p.A326T|ACOX3_uc003gle.1_Missense_Mutation_p.A231T	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	326					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			central_nervous_system(1)	1						AAGCGAAGAGCGATGGCCACG	0.587													T	8398744	C	T	8398744	3	4	131	1	0	0	0	0	1	0	0	0	160	768	27	1	1166	1	ACOX3	4	8398744	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	169849	8398744	182755532	480	76655											
GPR78	27201	broad.mit.edu	37	chr4	8588903	8588903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctccgccggccgttccGccaagtcctggccggcatgg	13	17	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:8588903G>A	uc003glk.2	+	3	1324	c.905G>A	c.(904-906)CGC>CAC	p.R302H	CPZ_uc003gll.2_Intron	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	302	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|ovary(2)	6						CGGCCGTTCCGCCAAGTCCTG	0.662													A	8588903	G	A	8588903	3	1	131	1	0	0	0	0	1	0	0	0	6710	1087	38	1	915	1	GPR78	4	8588903	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	190159	8588903	182565373	481	76656											
CPZ	8532	broad.mit.edu	37	chr4	8608573	8608573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccggctggcggagacccGcggcgcacgcagcgaccaca	14	17	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:8608573G>A	uc003glm.2	+	6	1142	c.1016G>A	c.(1015-1017)CGC>CAC	p.R339H	CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.R202H|CPZ_uc003glo.2_Missense_Mutation_p.R328H|CPZ_uc003glp.2_RNA	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z isoform 1	339					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3						GCGGAGACCCGCGGCGCACGC	0.652													A	8608573	G	A	8608573	3	1	131	1	0	0	0	0	1	0	0	0	3839	1087	38	1	1038	1	CPZ	4	8608573	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	19670	8608573	182545703	482	76657											
WDR1	9948	broad.mit.edu	37	chr4	10080545	10080545	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgccaccgtgtccccgccGgggtgcactgccacaacttc	10	17	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:10080545G>A	uc003gmf.2	-	12	1648	c.1365C>T	c.(1363-1365)CCC>CCT	p.P455P	WDR1_uc003gmg.2_Silent_p.P315P|WDR1_uc010idm.2_RNA|hsa-mir-3138|MI0014161_5'Flank	NM_017491	NP_059830	O75083	WDR1_HUMAN	WD repeat-containing protein 1 isoform 1	455	WD 8.				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			ovary(2)|pancreas(1)	3				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		TGTCCCCGCCGGGGTGCACTG	0.597													A	10080545	G	A	10080545	2	1	131	1	0	0	0	0	0	0	0	1	17269	1103	39	1		1	WDR1	4	10080545	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1471972	10080545	181073731	483	76658											
HS3ST1	9957	broad.mit.edu	37	chr4	11400913	11400913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagttcgaagcattgatctgCggcgacagctttaggaacct	11	9	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:11400913C>T	uc003gmq.2	-	2	1040	c.717G>A	c.(715-717)CCG>CCA	p.P239P		NM_005114	NP_005105	O14792	HS3S1_HUMAN	heparan sulfate D-glucosaminyl	239						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			skin(1)	1						CATTGATCTGCGGCGACAGCT	0.567													T	11400913	C	T	11400913	2	4	131	1	0	0	0	0	0	0	0	1	7363	755	27	1		1	HS3ST1	4	11400913	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1320368	11400913	179753363	484	76659											
CPEB2	132864	broad.mit.edu	37	chr4	15009113	15009113	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatgtcatagcaccaccgaAatttactcgctcaactccat	4	13	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:15009113A>G	uc003gni.1	+	2	623	c.536A>G	c.(535-537)AAA>AGA	p.K179R	CPEB2_uc003gnj.1_Missense_Mutation_p.K179R|CPEB2_uc003gnk.1_Missense_Mutation_p.K179R|CPEB2_uc003gnl.1_Missense_Mutation_p.K179R|CPEB2_uc003gnm.1_Missense_Mutation_p.K179R|CPEB2_uc003gnn.1_Missense_Mutation_p.K179R	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding	179					regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1						GCACCACCGAAATTTACTCGC	0.398													G	15009113	A	G	15009113	3	3	131	1	0	0	0	0	1	0	0	0	3801	14	1	3	1853	3	CPEB2	4	15009113	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	3608200	15009113	176145163	485	76660											
CCKAR	886	broad.mit.edu	37	chr4	26483560	26483560	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgccaggcgttggcgctgaaGatgggcatccagcacaggaa	15	11	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:26483560G>T	uc003gse.1	-	5	1140	c.987C>A	c.(985-987)ATC>ATA	p.I329I		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	329	Helical; Name=6; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			lung(3)|pancreas(1)	4		Breast(46;0.0503)			Ceruletide(DB00403)	TGGCGCTGAAGATGGGCATCC	0.607													T	26483560	G	T	26483560	2	4	131	1	0	0	0	0	0	0	0	1	2880	932	33	5		5	CCKAR	4	26483560	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	11474447	26483560	164670716	486	76661											
TLR1	7096	broad.mit.edu	37	chr4	38800236	38800236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attatgagaaattatcaaaaTcctcagttttgacagtgata	6	5	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:38800236T>C	uc003gtl.2	-	4	491	c.217A>G	c.(217-219)ATT>GTT	p.I73V		NM_003263	NP_003254	Q15399	TLR1_HUMAN	toll-like receptor 1 precursor	73	Extracellular (Potential).|LRR 2.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			lung(2)|skin(2)|prostate(1)	5						ATTATCAAAATCCTCAGTTTT	0.328													C	38800236	T	C	38800236	3	2	131	1	0	0	0	0	1	0	0	0	15946	1435	50	3	2147	3	TLR1	4	38800236	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	12316676	38800236	152354040	487	76662											
N4BP2	55728	broad.mit.edu	37	chr4	40127935	40127935	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaagaaattgccttacaGgaaaaacataatttggtatg	8	5	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:40127935G>A	uc003guy.3	+	12	4850	c.4512G>A	c.(4510-4512)CAG>CAA	p.Q1504Q	N4BP2_uc010ifq.2_Silent_p.Q1424Q|N4BP2_uc010ifr.2_Silent_p.Q1424Q	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	1504						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						TTGCCTTACAGGAAAAACATA	0.279													A	40127935	G	A	40127935	2	1	131	1	0	0	0	0	0	0	0	1	10110	991	35	4		4	N4BP2	4	40127935	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1327699	40127935	151026341	488	76663											
RBM47	54502	broad.mit.edu	37	chr4	40440469	40440469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaggcggcagttgtccaCgctgcagcacacgccgagca	14	13	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:40440469C>T	uc003gvc.2	-	4	1152	c.442G>A	c.(442-444)GTG>ATG	p.V148M	RBM47_uc003gvd.2_Missense_Mutation_p.V148M|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.V110M|RBM47_uc003gvg.1_Missense_Mutation_p.V148M	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	148	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(3)	3						CAGTTGTCCACGCTGCAGCAC	0.627													T	40440469	C	T	40440469	3	4	131	1	0	0	0	0	1	0	0	0	13141	536	19	1	1355	1	RBM47	4	40440469	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	312534	40440469	150713807	489	76664											
LIMCH1	22998	broad.mit.edu	37	chr4	41605923	41605926	+	Splice_Site	DEL	GTAA	GTAA	-													atagtaggaagctgaaaaatGtaagtgttttaacttccaaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:41605922_41605925TGTAA>T	uc003gvz.4	+	3	315	c.-102_splice	c.e3+1		LIMCH1_uc003gvt.1_Splice_Site|LIMCH1_uc003gwe.4_Splice_Site_p.N125_splice|LIMCH1_uc003gvu.4_Splice_Site_p.N125_splice|LIMCH1_uc003gvv.4_Splice_Site_p.N125_splice|LIMCH1_uc003gvw.4_Splice_Site_p.N125_splice|LIMCH1_uc003gvx.4_Splice_Site_p.N125_splice|LIMCH1_uc003gvy.4_Splice_Site|LIMCH1_uc003gwa.4_Intron	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.						actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AGCTGAAAAATGTAAGTGTTTTAA	0.328													-	41605926	GTAA	-	41605923	8	5	131	1	0	1	0	1	0	0	1	0	8797	1391	48	0	394	0	LIMCH1	4	41605923	Splice_Site	DEL	GTAA	TCGA-BR-A4QL-01A-31D-A25D-08	1165454	41605923	149548353	490	76665											
BEND4	389206	broad.mit.edu	37	chr4	42145857	42145857	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acccctttcccaatgtgacaGtgctcctgtctttcgttgta	7	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:42145857G>C	uc003gwn.2	-	3	1222	c.642C>G	c.(640-642)CAC>CAG	p.H214Q	BEND4_uc003gwm.2_Missense_Mutation_p.H214Q|BEND4_uc011byy.1_Missense_Mutation_p.H214Q	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	BEN domain containing 4 isoform a	214											0						CAATGTGACAGTGCTCCTGTC	0.443													C	42145857	G	C	42145857	3	2	131	1	0	0	0	0	1	0	0	0	1400	1020	36	5	978	5	BEND4	4	42145857	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	539934	42145857	149008419	491	76666											
SPATA18	132671	broad.mit.edu	37	chr4	52943043	52943043	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctgtcaaggtcaggagacCgtccccaaaccgctccaagc	10	16	2	1	rs150116592		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:52943043C>A	uc003gzl.2	+	7	1135	c.857C>A	c.(856-858)CCG>CAG	p.P286Q	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.P254Q|SPATA18_uc003gzk.1_Missense_Mutation_p.P286Q	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	286	Ser-rich.				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTCAGGAGACCGTCCCCAAAC	0.672													A	52943043	C	A	52943043	3	1	131	1	0	0	0	0	1	0	0	0	15002	652	23	5	883	5	SPATA18	4	52943043	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	10797186	52943043	138211233	492	76667											
PDGFRA	5156	broad.mit.edu	37	chr4	55129867	55129867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtacctctaggaatgaCggattatttagtcatcgtgg	10	7	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:55129867C>T	uc003han.3	+	4	732	c.401C>T	c.(400-402)ACG>ATG	p.T134M	PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_Missense_Mutation_p.T134M|PDGFRA_uc010igq.1_Missense_Mutation_p.T28M|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	134	Extracellular (Potential).|Ig-like C2-type 2.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTAGGAATGACGGATTATTTA	0.408			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			T	55129867	C	T	55129867	3	4	131	1	0	0	0	0	1	0	0	0	11661	536	19	1	411	1	PDGFRA	4	55129867	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2186824	55129867	136024409	493	76668											
CEP135	9662	broad.mit.edu	37	chr4	56841070	56841070	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactccaacatataatacagCgaagatcttgctctacaagt	6	10	2	1	rs138291324		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:56841070C>T	uc003hbi.2	+	11	1642	c.1408C>T	c.(1408-1410)CGA>TGA	p.R470*	CEP135_uc003hbj.2_Nonsense_Mutation_p.R176*	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	470	Potential.				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)					TATAATACAGCGAAGATCTTG	0.358													T	56841070	C	T	56841070	4	4	131	1	0	0	0	0	0	1	0	0	3247	760	27	1	1446	1	CEP135	4	56841070	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1711203	56841070	134313206	494	76669											
KIAA1211	57482	broad.mit.edu	37	chr4	57179502	57179503	+	Frame_Shift_Ins	INS	-	-	A													cacaagctggctgttaagccINSaaaaaaacagagggtgtcaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:57179502_57179503insA	uc003hbk.2	+	7	885_886	c.494_495insA	c.(493-495)CCAfs	p.P165fs	KIAA1211_uc010iha.2_Frame_Shift_Ins_p.P158fs|KIAA1211_uc011bzz.1_Frame_Shift_Ins_p.P75fs|KIAA1211_uc003hbm.1_Frame_Shift_Ins_p.P51fs	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	165										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					GCTGTTAAGCCAAAAAAACAGA	0.569													A	57179503	-	A	57179502	7	5	131	1	0	1	1	0	0	0	0	0	8215	594	21	0	508	0	KIAA1211	4	57179502	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	338432	57179502	133974774	495	76670	353	2									
KIAA1211	57482	broad.mit.edu	37	chr4	57179503	57179504	+	Frame_Shift_Ins	INS	-	-	A													acaagctggctgttaagccaINSaaaaaacagagggtgtcaaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:57179502_57179503C>CA	uc003hbk.2	+	6	885_886	c.494_495C>CA	c.(493-495)ccafs	p.P165fs	KIAA1211_uc010iha.2_Frame_Shift_Ins_p.P158fs|KIAA1211_uc011bzz.1_Frame_Shift_Ins_p.P75fs|KIAA1211_uc003hbm.1_Frame_Shift_Ins_p.P51fs	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	165										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCTGTTAAGCCAAAAAAACAGA	0.569													A	57179504	-	A	57179503	7	5	131	1	0	1	1	0	0	0	0	0	8215	117	5	0	509	0	KIAA1211	4	57179503	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	57179503	133974773	496	76671	353	2									
KIAA1211	57482	broad.mit.edu	37	chr4	57181497	57181497	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggcccggcagtcaaccTgagccagatcaaggacaccg	12	14	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:57181497T>C	uc003hbk.2	+	8	2220	c.1829T>C	c.(1828-1830)CTG>CCG	p.L610P	KIAA1211_uc010iha.2_Missense_Mutation_p.L603P|KIAA1211_uc011bzz.1_Missense_Mutation_p.L520P|KIAA1211_uc003hbm.1_Missense_Mutation_p.L496P	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	610										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					GCAGTCAACCTGAGCCAGATC	0.677													C	57181497	T	C	57181497	3	2	131	1	0	0	0	0	1	0	0	0	8215	1580	55	3	1847	3	KIAA1211	4	57181497	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1994	57181497	133972779	497	76672											
PAICS	10606	broad.mit.edu	37	chr4	57307843	57307843	+	Frame_Shift_Del	DEL	A	A	-													ccacagtactgaacattggtAaaaaattatatgagggtaaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:57307843delA	uc003hbs.1	+	3	262	c.31delA	c.(31-33)AAAfs	p.K11fs	PAICS_uc011cac.1_Frame_Shift_Del_p.K11fs|PAICS_uc003hbt.1_Frame_Shift_Del_p.K11fs|PAICS_uc003hbu.1_Frame_Shift_Del_p.K11fs|PAICS_uc010ihd.1_Frame_Shift_Del_p.K12fs	NM_006452	NP_006443	P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase,	11	SAICAR synthetase.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	GAACATTGGTAAAAAATTATA	0.358													-	57307843	A	-	57307843	7	5	131	1	0	1	0	1	0	0	0	0	11395	363	13	0	37	0	PAICS	4	57307843	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	126346	57307843	133846433	498	76673											
REST	5978	broad.mit.edu	37	chr4	57798156	57798156	+	Frame_Shift_Del	DEL	A	A	-													gttccacaagaatctagcagAaaaaatgcaaaggaagcctt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:57798155_57798155GA>G	uc003hch.3	+	3	3478	c.3131_3131GA>G	c.(3130-3132)agafs	p.R1044fs	REST_uc003hci.3_Frame_Shift_Del_p.R1044fs|REST_uc010ihf.3_Frame_Shift_Del_p.R718fs	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	1044	Interaction with RCOR1.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GAATCTAGCAGAAAAAATGCA	0.443													-	57798156	A	-	57798156	7	5	131	1	0	1	0	1	0	0	0	0	13234	243	9	0	3142	0	REST	4	57798156	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	490313	57798156	133356120	499	76674											
EPHA5	2044	broad.mit.edu	37	chr4	66467573	66467573	+	Frame_Shift_Del	DEL	T	T	-													tgtcgtaccacagaagggcaTtttttatagtatacacgcac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:66467573delT	uc003hcy.2	-	3	889	c.696delA	c.(694-696)AAAfs	p.K232fs	EPHA5_uc003hcx.2_Frame_Shift_Del_p.K163fs|EPHA5_uc003hcz.2_Frame_Shift_Del_p.K232fs|EPHA5_uc011cah.1_Frame_Shift_Del_p.K232fs|EPHA5_uc011cai.1_Frame_Shift_Del_p.K232fs|EPHA5_uc003hda.2_Frame_Shift_Del_p.K232fs	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	232	Extracellular (Potential).|Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						CAGAAGGGCATTTTTTATAGT	0.448										TSP Lung(17;0.13)			-	66467573	T	-	66467573	7	5	131	1	0	1	0	1	0	0	0	0	5170	1490	52	0	2481	0	EPHA5	4	66467573	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	8669417	66467573	124686703	500	76675											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68930611	68930611	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatttcgtttcactgcgggTggtgttatagttgcaccaaa	10	8	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:68930611T>C	uc003hdt.1	-	8	856	c.807A>G	c.(805-807)CCA>CCG	p.P269P	LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron|SYT14L_uc010ihn.2_5'Flank	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	269	Peptidase S1.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						TCACTGCGGGTGGTGTTATAG	0.348													C	68930611	T	C	68930611	2	2	131	1	0	0	0	0	0	0	0	1	16240	1683	59	3		3	TMPRSS11F	4	68930611	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	2463038	68930611	122223665	501	76676											
YTHDC1	91746	broad.mit.edu	37	chr4	69182036	69182036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccttgtgcacttactactCgtttatctctgtatcttgct	5	12	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:69182036C>T	uc003hdx.2	-	16	2308	c.1955G>A	c.(1954-1956)CGA>CAA	p.R652Q	YTHDC1_uc003hdy.2_Missense_Mutation_p.R634Q	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	652	Arg-rich.									upper_aerodigestive_tract(1)|ovary(1)	2						ACTTACTACTCGTTTATCTCT	0.458													T	69182036	C	T	69182036	3	4	131	1	0	0	0	0	1	0	0	0	17493	884	31	1	236	1	YTHDC1	4	69182036	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	251425	69182036	121972240	502	76677											
AMTN	401138	broad.mit.edu	37	chr4	71394929	71394930	+	Splice_Site	INS	-	-	A													ctaagctcagaggaattggtINSaaaaaaaataaaaatactat							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:71394929_71394930insA	uc003hfk.1	+	7	446	c.357_splice	c.e7+2	p.L119_splice	AMTN_uc010ihy.1_Splice_Site_p.L118_splice	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	amelotin precursor						biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				large_intestine(1)|central_nervous_system(1)	2			Lung(101;0.235)			GAGGAATTGGTAAAAAAAATAA	0.267													A	71394930	-	A	71394929	8	5	131	1	0	1	1	0	0	0	1	0	590	1652	57	0	381	0	AMTN	4	71394929	Splice_Site	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	2212893	71394929	119759347	503	76678											
UTP3	57050	broad.mit.edu	37	chr4	71555158	71555158	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agagttggtggaacaagggaTcattccacccggaaaaggaa	13	7	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:71555158T>A	uc003hfo.2	+	1	963	c.764T>A	c.(763-765)ATC>AAC	p.I255N		NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit processome component	255					brain development|chromatin modification|gene silencing	nucleolus					0			Lung(101;0.235)			GAACAAGGGATCATTCCACCC	0.433													A	71555158	T	A	71555158	3	1	131	1	0	0	0	0	1	0	0	0	17098	1435	50	5	766	5	UTP3	4	71555158	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	160229	71555158	119599118	504	76679											
RUFY3	22902	broad.mit.edu	37	chr4	71660563	71660563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaaagaagattacaaaaCgacaggagcatcccaggaag	10	7	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:71660563C>T	uc003hfr.2	+	14	2104	c.1509C>T	c.(1507-1509)AAC>AAT	p.N503N	RUFY3_uc011cay.1_Silent_p.N439N	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					negative regulation of axonogenesis	filopodium|growth cone					0		all_hematologic(202;0.248)	Lung(101;0.235)			GATTACAAAACGACAGGAGCA	0.363													T	71660563	C	T	71660563	2	4	131	1	0	0	0	0	0	0	0	1	13740	535	19	1		1	RUFY3	4	71660563	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	105405	71660563	119493713	505	76680											
CCDC158	339965	broad.mit.edu	37	chr4	77300523	77300523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagatcgctgagctgacGcatatacatagagttttggt	10	8	0	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:77300523G>A	uc003hkb.3	-	8	1102	c.949C>T	c.(949-951)CGT>TGT	p.R317C	CCDC158_uc003hkd.2_Missense_Mutation_p.R317C	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	317	Potential.									skin(3)|ovary(2)|pancreas(1)	6						CTGAGCTGACGCATATACATA	0.398													A	77300523	G	A	77300523	3	1	131	1	0	0	0	0	1	0	0	0	2790	1087	38	1	2460	1	CCDC158	4	77300523	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	5639960	77300523	113853753	506	76681											
SHROOM3	57619	broad.mit.edu	37	chr4	77660524	77660524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatttcggcaccgtgagCggcccagctcctggtctagc	12	15	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:77660524C>T	uc011cbx.1	+	5	2151	c.1198C>T	c.(1198-1200)CGG>TGG	p.R400W	SHROOM3_uc011cbz.1_Missense_Mutation_p.R224W|SHROOM3_uc003hkf.1_Missense_Mutation_p.R275W|SHROOM3_uc003hkg.2_Missense_Mutation_p.R178W	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	400					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			GCACCGTGAGCGGCCCAGCTC	0.587													T	77660524	C	T	77660524	3	4	131	1	0	0	0	0	1	0	0	0	14295	759	27	1	1216	1	SHROOM3	4	77660524	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	360001	77660524	113493752	507	76682											
CNOT6L	246175	broad.mit.edu	37	chr4	78697453	78697453	+	Frame_Shift_Del	DEL	T	T	-													tctaattctgcccagtgagaTtttttcccattggctacctc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:78697453delT	uc011ccd.1	-	2	230	c.99delA	c.(97-99)AAAfs	p.K33fs	CNOT6L_uc003hks.2_Frame_Shift_Del_p.K33fs|CNOT6L_uc011cce.1_Frame_Shift_Del_p.K33fs	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	33					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			large_intestine(1)	1						CCCAGTGAGATTTTTTCCCAT	0.373													-	78697453	T	-	78697453	7	5	131	1	0	1	0	1	0	0	0	0	3623	1490	52	0	1612	0	CNOT6L	4	78697453	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	1036929	78697453	112456823	508	76683											
FRAS1	80144	broad.mit.edu	37	chr4	79300892	79300892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttcaggcaaaatacacaCccctagtcttcatgtgaatg	6	10	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:79300892C>T	uc003hlb.2	+	27	3745	c.3305C>T	c.(3304-3306)ACC>ATC	p.T1102I	FRAS1_uc003hkw.2_Missense_Mutation_p.T1102I	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1101	CSPG 1.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						AAAATACACACCCCTAGTCTT	0.418													T	79300892	C	T	79300892	3	4	131	1	0	0	0	0	1	0	0	0	6042	507	18	4	3411	4	FRAS1	4	79300892	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	603439	79300892	111853384	509	76684											
FRAS1	80144	broad.mit.edu	37	chr4	79410048	79410049	+	Frame_Shift_Ins	INS	-	-	A													tgcccagcatgcagtttgccINSaaggatttgctcctagtgaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:79410048_79410049insA	uc003hlb.2	+	59	9212_9213	c.8772_8773insA	c.(8770-8775)GCCAAGfs	p.A2924fs		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2919_2920	Calx-beta 4.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TGCAGTTTGCCAAGGATTTGCT	0.54													A	79410049	-	A	79410048	7	5	131	1	0	1	1	0	0	0	0	0	6042	581	21	0	9081	0	FRAS1	4	79410048	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	109156	79410048	111744228	510	76685	354	2									
FRAS1	80144	broad.mit.edu	37	chr4	79410049	79410050	+	Frame_Shift_Ins	INS	-	-	A													gcccagcatgcagtttgccaINSaggatttgctcctagtgaag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:79410048_79410049C>CA	uc003hlb.2	+	58	9212_9213	c.8772_8773C>CA	c.(8770-8775)gccaagfs	p.A2924fs		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2919	Calx-beta 4.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGCAGTTTGCCAAGGATTTGCT	0.54													A	79410050	-	A	79410049	7	5	131	1	0	1	1	0	0	0	0	0	6042	131	5	0	9082	0	FRAS1	4	79410049	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	79410049	111744227	511	76686	354	2									
BMP2K	55589	broad.mit.edu	37	chr4	79786730	79786730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaataacagataccattggaCcaacagaaacctcaattgca	6	10	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:79786730C>T	uc003hlk.2	+	10	1253	c.1087C>T	c.(1087-1089)CCA>TCA	p.P363S	BMP2K_uc010ijl.1_RNA|BMP2K_uc003hlj.2_Missense_Mutation_p.P363S	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	363						nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1						TACCATTGGACCAACAGAAAC	0.373													T	79786730	C	T	79786730	3	4	131	1	0	0	0	0	1	0	0	0	1460	507	18	4	1125	4	BMP2K	4	79786730	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	376681	79786730	111367546	512	76687											
PRDM8	56978	broad.mit.edu	37	chr4	81123250	81123251	+	In_Frame_Ins	INS	-	-	CAG													cggcggcggtggcaaagaccINSagcagcagcagcagcaggag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:81123249_81123250C>CCAG	uc010ijo.3	+	7	1472_1473	c.633_634C>CCAG	c.(631-636)gaccag>gaCCAGag	p.211_212DQ>DQ	PRDM8_uc003hmb.4_In_Frame_Ins_p.211_212DQ>DQ|PRDM8_uc003hmc.4_In_Frame_Ins_p.211_212DQ>DQ	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.	211	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gtggcaaagaccagcagcagca	0.653											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CAG	81123251	-	CAG	81123250	7	5	131	1	0	1	1	0	0	0	0	0	12462	595	21	0	644	0	PRDM8	4	81123250	In_Frame_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1336520	81123250	110031026	513	76688											
THAP9	79725	broad.mit.edu	37	chr4	83838382	83838382	+	Frame_Shift_Del	DEL	T	T	-													tggagaacacctcttggttaTttttttgtaaacagagcatc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:83838382delT	uc003hnt.2	+	5	1136	c.1017delT	c.(1015-1017)TATfs	p.Y339fs	THAP9_uc003hns.1_Frame_Shift_Del_p.Y195fs|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Frame_Shift_Del_p.Y56fs	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	339							DNA binding|metal ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5		Hepatocellular(203;0.114)				CTCTTGGTTATTTTTTTGTAA	0.413													-	83838382	T	-	83838382	7	5	131	1	0	1	0	1	0	0	0	0	15848	1500	52	0	1035	0	THAP9	4	83838382	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	2715132	83838382	107315894	514	76689											
PLAC8	51316	broad.mit.edu	37	chr4	84026090	84026090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagagagtcctcattgcgaCgcttgttccacacagacagc	10	12	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:84026090C>T	uc003hoe.2	-	3	363	c.202G>A	c.(202-204)GTC>ATC	p.V68I	PLAC8_uc011cco.1_Missense_Mutation_p.V68I|PLAC8_uc010ijy.2_RNA|PLAC8_uc010ijz.2_Intron|PLAC8_uc003hod.2_Missense_Mutation_p.V68I	NM_001130716	NP_001124188	Q9NZF1	PLAC8_HUMAN	placenta-specific 8	68										ovary(1)	1		Hepatocellular(203;0.114)				CTCATTGCGACGCTTGTTCCA	0.448													T	84026090	C	T	84026090	3	4	131	1	0	0	0	0	1	0	0	0	12015	536	19	1	153	1	PLAC8	4	84026090	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	187708	84026090	107128186	515	76690											
CDS1	1040	broad.mit.edu	37	chr4	85530586	85530586	+	Frame_Shift_Del	DEL	A	A	-													tacattttctttgtaggtggAaaaactggtggatacgtgga							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:85530585_85530585GA>G	uc011ccv.2	+	2	747	c.249_249GA>G	c.(247-249)tggfs	p.W83fs		NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	83					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TTTGTAGGTGGAAAAACTGGT	0.338													-	85530586	A	-	85530586	7	5	131	1	0	1	0	1	0	0	0	0	3177	247	9	0	260	0	CDS1	4	85530586	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	1504496	85530586	105623690	516	76691											
SPP1	6696	broad.mit.edu	37	chr4	88898240	88898240	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgattctggaagttctgaGgaaaagcaggtaagcatctt	12	6	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:88898240G>T	uc003hra.2	+	3	249	c.84G>T	c.(82-84)GAG>GAT	p.E28D	SPP1_uc003hrb.2_Missense_Mutation_p.E28D|SPP1_uc003hrc.2_Missense_Mutation_p.E28D|SPP1_uc011cde.1_Translation_Start_Site|SPP1_uc003hrd.2_Missense_Mutation_p.E28D	NM_001040058	NP_001035147	P10451	OSTP_HUMAN	secreted phosphoprotein 1 isoform a	28					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			ovary(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		GAAGTTCTGAGGAAAAGCAGG	0.353													T	88898240	G	T	88898240	3	4	131	1	0	0	0	0	1	0	0	0	15085	991	35	5	90	5	SPP1	4	88898240	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	3367654	88898240	102256036	517	76692											
ATOH1	474	broad.mit.edu	37	chr4	94750179	94750179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccgcaaccgccgccgccGccgcagccacctgcaacttt	8	22	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:94750179G>A	uc003hta.1	+	1	102	c.102G>A	c.(100-102)CCG>CCA	p.P34P		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	atonal homolog 1	34	Poly-Pro.				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CGCCGCCGCCGCCGCAGCCAC	0.672													A	94750179	G	A	94750179	2	1	131	1	0	0	0	0	0	0	0	1	1112	1074	38	1		1	ATOH1	4	94750179	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	5851939	94750179	96404097	518	76693											
ATOH1	474	broad.mit.edu	37	chr4	94750450	94750450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccgggccggtgaaagtgCgggaacagctgtgcaagctg	17	11	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:94750450C>T	uc003hta.1	+	1	373	c.373C>T	c.(373-375)CGG>TGG	p.R125W		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	atonal homolog 1	125					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GGTGAAAGTGCGGGAACAGCT	0.692													T	94750450	C	T	94750450	3	4	131	1	0	0	0	0	1	0	0	0	1112	759	27	1	375	1	ATOH1	4	94750450	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	271	94750450	96403826	519	76694											
HPGDS	27306	broad.mit.edu	37	chr4	95239029	95239029	+	Frame_Shift_Del	DEL	T	T	-													caataaacatgttacctgtgTttttggtcaaatatcttgct							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:95239029delT	uc003hte.1	-	3	312	c.221delA	c.(220-222)AACfs	p.N74fs		NM_014485	NP_055300	O60760	HPGDS_HUMAN	prostaglandin D2 synthase, hematopoietic	74	GST N-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			ovary(1)	1					Glutathione(DB00143)	GTTACCTGTGTTTTTGGTCAA	0.308													-	95239029	T	-	95239029	7	5	131	1	0	1	0	1	0	0	0	0	7335	1725	60	0	394	0	HPGDS	4	95239029	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	488579	95239029	95915247	520	76695											
DAPP1	27071	broad.mit.edu	37	chr4	100789277	100789278	+	Frame_Shift_Ins	INS	-	-	A													gtgtactttattacagtcacINSaaataagaaaacagctcaac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:100789277_100789278insA	uc003hvf.3	+	9	868_869	c.778_779insA	c.(778-780)CAAfs	p.Q260fs	DAPP1_uc010ilh.2_3'UTR	NM_014395	NP_055210	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and	260					signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity				0				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		ATTACAGTCACAAATAAGAAAA	0.396													A	100789278	-	A	100789277	7	5	131	1	0	1	1	0	0	0	0	0	4239	479	17	0	812	0	DAPP1	4	100789277	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	5550248	100789277	90364999	521	76696	355	2									
DAPP1	27071	broad.mit.edu	37	chr4	100789278	100789279	+	Frame_Shift_Ins	INS	-	-	A													tgtactttattacagtcacaINSaataagaaaacagctcaacc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:100789277_100789278C>CA	uc003hvf.4	+	8	868_869	c.778_779C>CA	c.(778-780)caafs	p.Q260fs	DAPP1_uc010ilh.3_3'UTR	NM_014395	NP_055210	Q9UN19	DAPP1_HUMAN	Homo sapiens dual adaptor of phosphotyrosine and 3-phosphoinositides (DAPP1), mRNA.	260					signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		ATTACAGTCACAAATAAGAAAA	0.396													A	100789279	-	A	100789278	7	5	131	1	0	1	1	0	0	0	0	0	4239	130	5	0	813	0	DAPP1	4	100789278	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	100789278	90364998	522	76697	355	2									
BANK1	55024	broad.mit.edu	37	chr4	102951317	102951317	+	Frame_Shift_Del	DEL	A	A	-													tggccaatctgagtataaagAaaaaaactgggagtcggtct							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:102951317delA	uc003hvy.3	+	10	2069	c.1795delA	c.(1795-1797)AAAfs	p.K599fs	BANK1_uc003hvx.3_Frame_Shift_Del_p.K584fs|BANK1_uc010ill.2_Frame_Shift_Del_p.K466fs|BANK1_uc003hvz.3_Frame_Shift_Del_p.K569fs	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	599					B cell activation					ovary(2)|skin(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GAGTATAAAGAAAAAAACTGG	0.348													-	102951317	A	-	102951317	7	5	131	1	0	1	0	1	0	0	0	0	1309	247	9	0	1833	0	BANK1	4	102951317	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	2162039	102951317	88202959	523	76698											
SLC39A8	64116	broad.mit.edu	37	chr4	103189225	103189225	+	Frame_Shift_Del	DEL	T	T	-													caggtacatgaacttggctcTttttttccatcctagcagaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:103189224_103189224CT>C	uc003hwb.1	-	5	1382	c.853_853AG>G	c.(853-855)gagfs	p.E285fs	SLC39A8_uc011ceo.1_Frame_Shift_Del_p.E285fs|SLC39A8_uc003hwa.1_Frame_Shift_Del_p.E218fs|SLC39A8_uc003hwc.2_Frame_Shift_Del_p.E285fs	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.	285						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		GAACTTGGCTCTTTTTTTCCA	0.413													-	103189225	T	-	103189225	7	5	131	1	0	1	0	1	0	0	0	0	14624	1606	56	0	619	0	SLC39A8	4	103189225	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	237908	103189225	87965051	524	76699											
SLC39A8	64116	broad.mit.edu	37	chr4	103228644	103228644	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagagtcccaatagccagCcccacaaaaaaggtcaaaat	6	11	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:103228644C>T	uc003hwb.1	-	3	1030	c.501G>A	c.(499-501)GGG>GGA	p.G167G	SLC39A8_uc011ceo.1_Silent_p.G167G|SLC39A8_uc003hwa.1_Silent_p.G100G|SLC39A8_uc003hwc.2_Silent_p.G167G	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter),	167	Helical; (Potential).					integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		CAATAGCCAGCCCCACAAAAA	0.363													T	103228644	C	T	103228644	2	4	131	1	0	0	0	0	0	0	0	1	14624	726	26	2		2	SLC39A8	4	103228644	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	39419	103228644	87925632	525	76700											
NHEDC1	150159	broad.mit.edu	37	chr4	103870465	103870465	+	Frame_Shift_Del	DEL	T	T	-													tattctaatgagttgtaaaaTttttcccccaataatggcac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:103870465delT	uc003hww.2	-	4	453	c.331delA	c.(331-333)ATTfs	p.I111fs	NHEDC1_uc003hwu.2_Frame_Shift_Del_p.I111fs|NHEDC1_uc010ilm.2_5'UTR|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Intron	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	111	Helical; (Potential).					integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)		AGTTGTAAAATTTTTCCCCCA	0.348													-	103870465	T	-	103870465	7	5	131	1	0	1	0	1	0	0	0	0	10400	1493	52	0	1352	0	NHEDC1	4	103870465	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	641821	103870465	87283811	526	76701											
TACR3	6870	broad.mit.edu	37	chr4	104512673	104512673	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agacagcagtagatgatgggAttgtacatggttgagctcat	13	5	1	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:104512673A>T	uc003hxe.1	-	4	1199	c.1056T>A	c.(1054-1056)AAT>AAA	p.N352K		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	352	Helical; Name=7; (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGATGATGGGATTGTACATGG	0.408													T	104512673	A	T	104512673	3	4	131	1	0	0	0	0	1	0	0	0	15504	330	12	5	349	5	TACR3	4	104512673	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	642208	104512673	86641603	527	76702											
TACR3	6870	broad.mit.edu	37	chr4	104640638	104640638	+	Frame_Shift_Del	DEL	G	G	-													gcccagggctgggagggcgcGggggaagccacaggcagtcc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:104640637_104640637CG>C	uc003hxe.1	-	0	337	c.196_196CG>G	c.(196-198)gcgfs	p.A66fs		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	66						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TGGGAGGGCGCGGGGGAAGCC	0.687													-	104640638	G	-	104640638	7	5	131	1	0	1	0	1	0	0	0	0	15504	1103	39	0	1222	0	TACR3	4	104640638	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	127965	104640638	86513638	528	76703											
INTS12	57117	broad.mit.edu	37	chr4	106621122	106621122	+	Frame_Shift_Del	DEL	A	A	-													gcaagaaacctagtgctttcAaaaaaatgggatcaagttcc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:106621121_106621121CA>C	uc003hxw.3	-	2	300	c.42_42TG>G	c.(40-42)ttgfs	p.L14fs	INTS12_uc010ilr.3_Frame_Shift_Del_p.L14fs	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	Homo sapiens integrator complex subunit 12 (INTS12), transcript variant 1, mRNA.	14					snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		CTAGTGCTTTCAAAAAAATGG	0.388													-	106621122	A	-	106621122	7	5	131	1	0	1	0	1	0	0	0	0	7777	131	5	0	1371	0	INTS12	4	106621122	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	1980484	106621122	84533154	529	76704											
NPNT	255743	broad.mit.edu	37	chr4	106861729	106861729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctttgctcgatgttataaCatacgtgggtcctacaagtg	10	8	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:106861729C>T	uc003hya.2	+	7	904	c.699C>T	c.(697-699)AAC>AAT	p.N233N	NPNT_uc011cfc.1_Silent_p.N250N|NPNT_uc011cfd.1_Silent_p.N263N|NPNT_uc011cfe.1_Silent_p.N263N|NPNT_uc010ilt.1_Silent_p.N233N|NPNT_uc011cff.1_Silent_p.N233N|NPNT_uc010ilu.1_Silent_p.N129N	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	233	EGF-like 5; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			skin(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		GATGTTATAACATACGTGGGT	0.423													T	106861729	C	T	106861729	2	4	131	1	0	0	0	0	0	0	0	1	10590	477	17	4		4	NPNT	4	106861729	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	240607	106861729	84292547	530	76705											
ALPK1	80216	broad.mit.edu	37	chr4	113352968	113352968	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtttccagaaaccaactgCgatgtcaaagacaggcaggg	12	9	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:113352968C>T	uc003iap.3	+	11	2544	c.2265C>T	c.(2263-2265)TGC>TGT	p.C755C	ALPK1_uc003ian.3_Silent_p.C755C|ALPK1_uc011cfx.1_Silent_p.C677C|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Silent_p.C583C	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	755							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AAACCAACTGCGATGTCAAAG	0.468													T	113352968	C	T	113352968	2	4	131	1	0	0	0	0	0	0	0	1	544	776	27	1		1	ALPK1	4	113352968	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	6491239	113352968	77801308	531	76706											
NDST4	64579	broad.mit.edu	37	chr4	115773883	115773884	+	Frame_Shift_Ins	INS	-	-	T													caattggctatttttacctgINSttttttgtggaccaattact							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:115773883_115773884insT	uc003ibu.2	-	8	2492_2493	c.1813_1814insA	c.(1813-1815)ACAfs	p.T605fs	NDST4_uc010imw.2_RNA	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	605	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.|PAPS (By similarity).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATTTTTACCTGTTTTTTGTGGA	0.307													T	115773884	-	T	115773883	7	5	131	1	0	1	1	0	0	0	0	0	10258	1377	48	0	832	0	NDST4	4	115773883	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	2420915	115773883	75380393	532	76707	356	2									
NDST4	64579	broad.mit.edu	37	chr4	115773884	115773885	+	Frame_Shift_Ins	INS	-	-	T													aattggctatttttacctgtINStttttgtggaccaattacta							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:115773883_115773884G>GT	uc003ibu.3	-	7	2492_2493	c.1813_1814C>AC	c.(1813-1815)acafs	p.T605fs	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	605	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.T605R(4)|p.T605T(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATTTTTACCTGTTTTTTGTGGA	0.307													T	115773885	-	T	115773884	7	5	131	1	0	1	1	0	0	0	0	0	10258	1725	60	0	833	0	NDST4	4	115773884	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	115773884	75380392	533	76708	356	2									
NDST3	9348	broad.mit.edu	37	chr4	118975891	118975891	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggttctttttggcaacaacTtgaacttttggctgcacaag	10	8	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:118975891T>G	uc003ibx.2	+	2	1229	c.826T>G	c.(826-828)TTG>GTG	p.L276V	NDST3_uc011cgf.1_Missense_Mutation_p.L276V|NDST3_uc003ibw.2_Missense_Mutation_p.L276V	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	276	Lumenal (Potential).|Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						TGGCAACAACTTGAACTTTTG	0.418													G	118975891	T	G	118975891	3	3	131	1	0	0	0	0	1	0	0	0	10257	1606	56	5	828	5	NDST3	4	118975891	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	3202007	118975891	72178385	534	76709											
TRPC3	7222	broad.mit.edu	37	chr4	122853799	122853799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggggctcagagtgagaCgcttgctggccgcgaagcca	15	12	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:122853799C>T	uc003ieg.2	-	2	688	c.614G>A	c.(613-615)CGT>CAT	p.R205H	TRPC3_uc010inr.2_Missense_Mutation_p.R132H|TRPC3_uc003ief.2_Missense_Mutation_p.R132H|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	120	Cytoplasmic (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						CAGAGTGAGACGCTTGCTGGC	0.647													T	122853799	C	T	122853799	3	4	131	1	0	0	0	0	1	0	0	0	16576	536	19	1	2195	1	TRPC3	4	122853799	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3877908	122853799	68300477	535	76710											
ADAD1	132612	broad.mit.edu	37	chr4	123329146	123329146	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagatggaagagtattgcatGacactcatgctgttgttaca	10	7	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:123329146G>A	uc003ieo.2	+	8	1040	c.808G>A	c.(808-810)GAC>AAC	p.D270N	ADAD1_uc003iep.2_Missense_Mutation_p.D270N|ADAD1_uc003ieq.2_Missense_Mutation_p.D252N	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	270	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						AGTATTGCATGACACTCATGC	0.388													A	123329146	G	A	123329146	3	1	131	1	0	0	0	0	1	0	0	0	231	1290	45	4	830	4	ADAD1	4	123329146	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	475347	123329146	67825130	536	76711											
PCDH18	54510	broad.mit.edu	37	chr4	138452697	138452697	+	Frame_Shift_Del	DEL	A	A	-													ctggtccgaacctcgatattAaaaaaatcattggcagagag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:138452697delA	uc003ihe.3	-	1	933	c.546delT	c.(544-546)TTTfs	p.F182fs	PCDH18_uc003ihf.3_Frame_Shift_Del_p.F175fs|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_5'UTR|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	182	Extracellular (Potential).|Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					CCTCGATATTAAAAAAATCAT	0.493													-	138452697	A	-	138452697	7	5	131	1	0	1	0	1	0	0	0	0	11513	359	13	0	2877	0	PCDH18	4	138452697	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	15123551	138452697	52701579	537	76712											
TBC1D9	23158	broad.mit.edu	37	chr4	141578953	141578953	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctcctcaaagacaccttgGtccaccagtgcacctgtggc	9	15	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:141578953G>T	uc010ioj.2	-	12	2207	c.1935C>A	c.(1933-1935)GAC>GAA	p.D645E		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	645	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AGACACCTTGGTCCACCAGTG	0.507													T	141578953	G	T	141578953	3	4	131	1	0	0	0	0	1	0	0	0	15624	1252	44	5	1905	5	TBC1D9	4	141578953	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	3126256	141578953	49575323	538	76713											
C4orf51	646603	broad.mit.edu	37	chr4	146601541	146601541	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactggacaagtccatgtgCagccaattttcttttagagc	8	10	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:146601541C>T	uc003ikk.2	+	1	186	c.186C>T	c.(184-186)TGC>TGT	p.C62C		NM_001080531	NP_001074000	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	62											0						AGTCCATGTGCAGCCAATTTT	0.423													T	146601541	C	T	146601541	2	4	131	1	0	0	0	0	0	0	0	1	2277	718	25	2		2	C4orf51	4	146601541	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	5022588	146601541	44552735	539	76714											
FBXW7	55294	broad.mit.edu	37	chr4	153247289	153247289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcatattgaacacagcGgactgctgcaacatgaccca	8	13	1	2	rs149680468		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:153247289G>A	uc003ims.2	-	10	1662	c.1513C>T	c.(1513-1515)CGC>TGC	p.R505C	FBXW7_uc011cii.1_Missense_Mutation_p.R505C|FBXW7_uc003imt.2_Missense_Mutation_p.R505C|FBXW7_uc011cih.1_Missense_Mutation_p.R329C|FBXW7_uc003imq.2_Missense_Mutation_p.R425C|FBXW7_uc003imr.2_Missense_Mutation_p.R387C	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	505	WD 4.		R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R505C(36)|p.R505L(6)|p.R505G(4)|p.R425C(2)|p.R425G(2)|p.R266G(2)|p.R505H(2)|p.R505S(1)|p.R505P(1)|p.R266C(1)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			Mis|N|D|F		colorectal|endometrial|T-ALL								A	153247289	G	A	153247289	3	1	131	1	0	0	0	0	1	0	0	0	5769	1116	39	1	622	1	FBXW7	4	153247289	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	6645748	153247289	37906987	540	76715											
TDO2	6999	broad.mit.edu	37	chr4	156825180	156825180	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaatttgcagatatacttttAaaaaactccccgtagaaggc	6	8	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:156825180A>T	uc003ipf.1	+	2	110	c.46A>T	c.(46-48)AAA>TAA	p.K16*		NM_005651	NP_005642	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	16					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	ATATACTTTTAAAAAACTCCC	0.353													T	156825180	A	T	156825180	4	4	131	1	0	0	0	0	0	1	0	0	15724	363	13	5	52	5	TDO2	4	156825180	Nonsense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	3577891	156825180	34329096	541	76716											
FNIP2	57600	broad.mit.edu	37	chr4	159782570	159782571	+	Frame_Shift_Ins	INS	-	-	A													tatgatgtccggcactttggINSaaaaaaaccagctctgccag					rs10004242		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:159782570_159782571insA	uc003iqe.3	+	11	1408_1409	c.1225_1226insA	c.(1225-1227)GAAfs	p.E409fs		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	409					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CGGCACTTTGGAAAAAAACCAG	0.406													A	159782571	-	A	159782570	7	5	131	1	0	1	1	0	0	0	0	0	5976	1175	41	0	1267	0	FNIP2	4	159782570	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	2957390	159782570	31371706	542	76717	357	2									
FNIP2	57600	broad.mit.edu	37	chr4	159782571	159782572	+	Frame_Shift_Ins	INS	-	-	A													atgatgtccggcactttggaINSaaaaaaccagctctgccagc					rs10004242		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:159782570_159782571G>GA	uc003iqe.4	+	10	1408_1409	c.1225_1226G>GA	c.(1225-1227)gaafs	p.E409fs		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	409					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CGGCACTTTGGAAAAAAACCAG	0.406													A	159782572	-	A	159782571	7	5	131	1	0	1	1	0	0	0	0	0	5976	246	9	0	1268	0	FNIP2	4	159782571	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	159782571	31371705	543	76718	357	2									
FSTL5	56884	broad.mit.edu	37	chr4	162697165	162697165	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcataatatatttttgAttttgtaaatctaatagcat	4	4	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:162697165A>C	uc003iqh.2	-	5	907	c.471T>G	c.(469-471)AAT>AAG	p.N157K	FSTL5_uc003iqi.2_Missense_Mutation_p.N156K|FSTL5_uc010iqv.2_Missense_Mutation_p.N156K	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	157						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TATATTTTTGATTTTGTAAAT	0.294													C	162697165	A	C	162697165	3	2	131	1	0	0	0	0	1	0	0	0	6080	330	12	5	2120	5	FSTL5	4	162697165	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	2914594	162697165	28457111	544	76719											
TLL1	7092	broad.mit.edu	37	chr4	166910564	166910564	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgatattgccttagatgaTgaagacttaaatatctttca	8	6	2	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:166910564T>C	uc003irh.1	+	2	848	c.201T>C	c.(199-201)GAT>GAC	p.D67D	TLL1_uc011cjn.1_Silent_p.D67D|TLL1_uc011cjo.1_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	67					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CCTTAGATGATGAAGACTTAA	0.333													C	166910564	T	C	166910564	2	2	131	1	0	0	0	0	0	0	0	1	15942	1461	51	3		3	TLL1	4	166910564	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	4213399	166910564	24243712	545	76720											
ANXA10	11199	broad.mit.edu	37	chr4	169083678	169083678	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgtactttttcctccacaGgacctgattggggatatgag	10	8	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:169083678G>A	uc003irm.2	+	4	341	c.196_splice	c.e4-1	p.D66_splice	ANXA10_uc003irn.2_5'Flank	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	annexin A10								calcium ion binding|calcium-dependent phospholipid binding				0		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		TTCCTCCACAGGACCTGATTG	0.388													A	169083678	G	A	169083678	5	1	131	1	0	0	0	0	0	0	1	0	715	1014	35	4	209	4	ANXA10	4	169083678	Splice_Site	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2173114	169083678	22070598	546	76721											
NEK1	4750	broad.mit.edu	37	chr4	170322819	170322819	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacctgagtgccattcttcGttcagggcactttcactgct	9	13	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:170322819G>A	uc003isb.1	-	31	3975	c.3483C>T	c.(3481-3483)AAC>AAT	p.N1161N	NEK1_uc003isc.1_Silent_p.N1117N|NEK1_uc003isd.1_Silent_p.N1189N|NEK1_uc003ise.1_Silent_p.N1145N|NEK1_uc003isf.1_Silent_p.N1092N	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1161					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(3)|ovary(2)|large_intestine(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		GCCATTCTTCGTTCAGGGCAC	0.413													A	170322819	G	A	170322819	2	1	131	1	0	0	0	0	0	0	0	1	10321	1136	40	1		1	NEK1	4	170322819	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1239141	170322819	20831457	547	76722											
GALNTL6	442117	broad.mit.edu	37	chr4	173873245	173873245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccgagtacatttaccagCggcggccggagtacaggcat	13	11	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:173873245C>T	uc003isv.2	+	10	1943	c.1207C>T	c.(1207-1209)CGG>TGG	p.R403W		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	403	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						CATTTACCAGCGGCGGCCGGA	0.512													T	173873245	C	T	173873245	3	4	131	1	0	0	0	0	1	0	0	0	6225	759	27	1	1241	1	GALNTL6	4	173873245	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3550426	173873245	17281031	548	76723											
GALNTL6	442117	broad.mit.edu	37	chr4	173930422	173930422	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctgtgtcaaggatggttctGaaagaacatggtctcatgaa	11	6	4	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:173930422G>A	uc003isv.2	+	11	2201	c.1465G>A	c.(1465-1467)GAA>AAA	p.E489K		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	489	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						GGATGGTTCTGAAAGAACATG	0.552													A	173930422	G	A	173930422	3	1	131	1	0	0	0	0	1	0	0	0	6225	1291	45	4	1503	4	GALNTL6	4	173930422	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	57177	173930422	17223854	549	76724											
ADAM29	11086	broad.mit.edu	37	chr4	175898755	175898755	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttattttattatgttgTctttatcgactttgtaaaaa	5	3	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:175898755T>C	uc003iuc.2	+	5	2749	c.2079T>C	c.(2077-2079)TGT>TGC	p.C693C	ADAM29_uc003iud.2_Silent_p.C693C|ADAM29_uc010irr.2_Silent_p.C693C|ADAM29_uc011cki.1_Silent_p.C693C	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	693	Helical; (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)		TATTATGTTGTCTTTATCGAC	0.343													C	175898755	T	C	175898755	2	2	131	1	0	0	0	0	0	0	0	1	247	1673	58	3		3	ADAM29	4	175898755	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1968333	175898755	15255521	550	76725											
ADAM29	11086	broad.mit.edu	37	chr4	175898771	175898771	+	Frame_Shift_Del	DEL	A	A	-													gttgtctttatcgactttgtAaaaaaagtaaaccaataaaa					rs34732497		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:175898771delA	uc003iuc.2	+	5	2765	c.2095delA	c.(2095-2097)AAAfs	p.K699fs	ADAM29_uc003iud.2_Frame_Shift_Del_p.K699fs|ADAM29_uc010irr.2_Frame_Shift_Del_p.K699fs|ADAM29_uc011cki.1_Frame_Shift_Del_p.K699fs	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	699	Cytoplasmic (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)		TCGACTTTGTAAAAAAAGTAA	0.348													-	175898771	A	-	175898771	7	5	131	1	0	1	0	1	0	0	0	0	247	363	13	0	2097	0	ADAM29	4	175898771	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	16	175898771	15255505	551	76726											
ENPP6	133121	broad.mit.edu	37	chr4	185038136	185038136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatccagaaaatgtcggtcAttccgtgatccgagaaaata	8	10	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:185038136A>G	uc003iwc.2	-	5	870	c.728T>C	c.(727-729)ATG>ACG	p.M243T		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	243	Extracellular (Potential).				lipid catabolic process	extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)	1		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		AATGTCGGTCATTCCGTGATC	0.532													G	185038136	A	G	185038136	3	3	131	1	0	0	0	0	1	0	0	0	5134	217	8	3	610	3	ENPP6	4	185038136	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	9139365	185038136	6116140	552	76727											
CCDC110	256309	broad.mit.edu	37	chr4	186379967	186379967	+	Frame_Shift_Del	DEL	T	T	-													ttcttttagaagctggtgtgTttttttctctaacatttctt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:186379967delT	uc003ixu.3	-	6	1850	c.1774delA	c.(1774-1776)ACAfs	p.T592fs	CCDC110_uc003ixv.3_Frame_Shift_Del_p.T555fs|CCDC110_uc011ckt.1_Frame_Shift_Del_p.T592fs	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	592	Potential.					nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AGCTGGTGTGTTTTTTTCTCT	0.303													-	186379967	T	-	186379967	7	5	131	1	0	1	0	1	0	0	0	0	2747	1725	60	0	735	0	CCDC110	4	186379967	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	1341831	186379967	4774309	553	76728											
TLR3	7098	broad.mit.edu	37	chr4	187004768	187004768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgactgagttagatatgcGctttaatccctttgattgca	8	9	0	4	rs150315296		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:187004768G>A	uc003iyq.2	+	4	2029	c.1928G>A	c.(1927-1929)CGC>CAC	p.R643H	TLR3_uc011ckz.1_Missense_Mutation_p.R366H|TLR3_uc003iyr.2_Missense_Mutation_p.R366H	NM_003265	NP_003256	O15455	TLR3_HUMAN	toll-like receptor 3 precursor	643	Lumenal (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			ovary(2)|prostate(1)|lung(1)|breast(1)	5		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTAGATATGCGCTTTAATCCC	0.433													A	187004768	G	A	187004768	3	1	131	1	0	0	0	0	1	0	0	0	15949	1087	38	1	1938	1	TLR3	4	187004768	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	624801	187004768	4149508	554	76729											
FAT1	2195	broad.mit.edu	37	chr4	187541438	187541438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctacagcagtgacatagCgaatgacatggcccacctca	9	12	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr4:187541438C>T	uc003izf.2	-	10	6490	c.6302G>A	c.(6301-6303)CGC>CAC	p.R2101H		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2101	Extracellular (Potential).|Cadherin 19.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						AGTGACATAGCGAATGACATG	0.468										HNSCC(5;0.00058)			T	187541438	C	T	187541438	3	4	131	1	0	0	0	0	1	0	0	0	5689	768	27	1	7536	1	FAT1	4	187541438	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	536670	187541438	3612838	555	76730											
SDHA	6389	broad.mit.edu	37	chr5	230997	230997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctattgtttccagaggctaCgggcgcacctacttcagctg	10	12	2	1	rs140243793		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:230997C>T	uc003jao.3	+	7	892	c.777C>T	c.(775-777)TAC>TAT	p.Y259Y	SDHA_uc003jan.2_Silent_p.Y259Y|SDHA_uc011clv.1_Silent_p.Y259Y|SDHA_uc011clw.1_Silent_p.Y211Y|SDHA_uc003jap.3_Silent_p.Y259Y|SDHA_uc003jaq.3_Silent_p.Y34Y|SDHA_uc003jar.3_Translation_Start_Site	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	259					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCAGAGGCTACGGGCGCACCT	0.602									Familial_Paragangliomas				T	230997	C	T	230997	2	4	131	1	0	0	0	0	0	0	0	1	13963	547	19	1		1	SDHA	5	230997	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08		230997	180684263	556	76731											
SDHA	6389	broad.mit.edu	37	chr5	233669	233669	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcattaacagtcaaggcgaaAggtttatggagcgatacgcc	11	8	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:233669A>G	uc003jao.3	+	8	1088	c.973A>G	c.(973-975)AGG>GGG	p.R325G	SDHA_uc003jan.2_Missense_Mutation_p.R325G|SDHA_uc011clv.1_Missense_Mutation_p.R325G|SDHA_uc011clw.1_Missense_Mutation_p.R277G|SDHA_uc003jap.3_Missense_Mutation_p.R325G|SDHA_uc003jaq.3_Missense_Mutation_p.R100G|SDHA_uc003jar.3_5'UTR	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	325					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TCAAGGCGAAAGGTTTATGGA	0.507									Familial_Paragangliomas				G	233669	A	G	233669	3	3	131	1	0	0	0	0	1	0	0	0	13963	63	3	3	1003	3	SDHA	5	233669	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	2672	233669	180681591	557	76732											
CLPTM1L	81037	broad.mit.edu	37	chr5	1335244	1335244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgccccagtgagaccttgtCgtaggacacggtgaggggca	15	12	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:1335244C>T	uc003jch.2	-	6	770	c.724G>A	c.(724-726)GAC>AAC	p.D242N	CLPTM1L_uc003jcg.2_Missense_Mutation_p.D109N	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	CLPTM1-like	242	Extracellular (Potential).				apoptosis	integral to membrane				breast(1)|central_nervous_system(1)	2	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GAGACCTTGTCGTAGGACACG	0.637													T	1335244	C	T	1335244	3	4	131	1	0	0	0	0	1	0	0	0	3555	884	31	1	940	1	CLPTM1L	5	1335244	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1101575	1335244	179580016	558	76733											
FASTKD3	79072	broad.mit.edu	37	chr5	7867738	7867738	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagatgctattctccagTatttcttttggcagcccttg	8	9	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:7867738T>C	uc003jeb.2	-	2	596	c.459A>G	c.(457-459)ATA>ATG	p.I153M	FASTKD3_uc011cmp.1_Intron|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	153					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4						TATTCTCCAGTATTTCTTTTG	0.438													C	7867738	T	C	7867738	3	2	131	1	0	0	0	0	1	0	0	0	5687	1628	57	3	1553	3	FASTKD3	5	7867738	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	6532494	7867738	173047522	559	76734											
TRIO	7204	broad.mit.edu	37	chr5	14291209	14291209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggacctgcagaacctcttgCccaaggtgtccaccatgctg	10	15	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:14291209C>T	uc003jff.2	+	5	931	c.925C>T	c.(925-927)CCC>TCC	p.P309S	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.P260S|TRIO_uc003jfh.1_5'Flank	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	309					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GAACCTCTTGCCCAAGGTGTC	0.557													T	14291209	C	T	14291209	3	4	131	1	0	0	0	0	1	0	0	0	16549	739	26	2	943	2	TRIO	5	14291209	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	6423471	14291209	166624051	560	76735											
TRIO	7204	broad.mit.edu	37	chr5	14364895	14364895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctggagcagtgcgtgcaGctgcgccacctgcaggcaga	14	14	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:14364895G>A	uc003jff.2	+	15	2730	c.2724G>A	c.(2722-2724)CAG>CAA	p.Q908Q	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.Q859Q|TRIO_uc003jfh.1_Silent_p.Q557Q	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	908	Spectrin 3.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					AGTGCGTGCAGCTGCGCCACC	0.547											OREG0016458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	14364895	G	A	14364895	2	1	131	1	0	0	0	0	0	0	0	1	16549	962	34	2		2	TRIO	5	14364895	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	73686	14364895	166550365	561	76736											
FAM134B	54463	broad.mit.edu	37	chr5	16475174	16475174	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagaccagctgctgattgCgtctctttgcttggtctgtg	13	9	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:16475174C>T	uc003jfs.2	-	9	1208	c.1170G>A	c.(1168-1170)ACG>ACA	p.T390T	FAM134B_uc003jfr.2_Silent_p.T249T	NM_001034850	NP_001030022	Q9H6L5	F134B_HUMAN	hypothetical protein LOC54463 isoform 1	390					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3						CTGCTGATTGCGTCTCTTTGC	0.493													T	16475174	C	T	16475174	2	4	131	1	0	0	0	0	0	0	0	1	5446	755	27	1		1	FAM134B	5	16475174	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2110279	16475174	164440086	562	76737											
MYO10	4651	broad.mit.edu	37	chr5	16794807	16794807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacaggcagcggtagcactCgttggcgatggcgaagatgt	15	10	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:16794807C>T	uc003jft.3	-	4	883	c.415G>A	c.(415-417)GAG>AAG	p.E139K	MYO10_uc003jfu.2_Missense_Mutation_p.E106K	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	139	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						CGGTAGCACTCGTTGGCGATG	0.657													T	16794807	C	T	16794807	3	4	131	1	0	0	0	0	1	0	0	0	10062	893	31	1	5913	1	MYO10	5	16794807	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	319633	16794807	164120453	563	76738											
BASP1	10409	broad.mit.edu	37	chr5	17275856	17275856	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcaaaacccggcagctcGgaggctgccccctcttccaa	9	17	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:17275856G>A	uc003jfx.2	+	2	710	c.531G>A	c.(529-531)TCG>TCA	p.S177S		NM_006317	NP_006308	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein	177					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding				0						CCGGCAGCTCGGAGGCTGCCC	0.662													A	17275856	G	A	17275856	2	1	131	1	0	0	0	0	0	0	0	1	1317	1103	39	1		1	BASP1	5	17275856	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	481049	17275856	163639404	564	76739											
CDH9	1007	broad.mit.edu	37	chr5	26885830	26885830	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attgcatgtttccttgattaTcgcaggcacacacacggata	8	10	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:26885830T>G	uc003jgs.1	-	11	1944	c.1775A>C	c.(1774-1776)GAT>GCT	p.D592A	CDH9_uc011cnv.1_Missense_Mutation_p.D185A	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	592	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						TCCTTGATTATCGCAGGCACA	0.473													G	26885830	T	G	26885830	3	3	131	1	0	0	0	0	1	0	0	0	3117	1435	50	5	602	5	CDH9	5	26885830	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	9609974	26885830	154029430	565	76740											
PDZD2	23037	broad.mit.edu	37	chr5	31983496	31983496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagaatccaagggcagcGctggctgtgaggtgtccagt	15	9	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:31983496G>A	uc003jhl.2	+	3	1100	c.712G>A	c.(712-714)GCT>ACT	p.A238T	PDZD2_uc003jhm.2_Missense_Mutation_p.A238T|PDZD2_uc011cnx.1_Missense_Mutation_p.A64T	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	238					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CAAGGGCAGCGCTGGCTGTGA	0.572													A	31983496	G	A	31983496	3	1	131	1	0	0	0	0	1	0	0	0	11701	1087	38	1	718	1	PDZD2	5	31983496	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	5097666	31983496	148931764	566	76741											
SKP2	6502	broad.mit.edu	37	chr5	36182090	36182090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaaccaggagatatgggGcatcaaatgccgactgacac	11	9	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:36182090G>A	uc003jkc.1	+	10	1414	c.1232G>A	c.(1231-1233)GGC>GAC	p.G411D	SKP2_uc011cou.1_Missense_Mutation_p.G197D|SKP2_uc003jkd.2_Intron	NM_005983	NP_005974	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2 isoform 1	411					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGATATGGGGCATCAAATGC	0.448													A	36182090	G	A	36182090	3	1	131	1	0	0	0	0	1	0	0	0	14362	1203	42	2	1270	2	SKP2	5	36182090	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	4198594	36182090	144733170	567	76742											
EGFLAM	133584	broad.mit.edu	37	chr5	38407192	38407192	+	Frame_Shift_Del	DEL	G	G	-													ctgtgtcaatgactacacctGggggggctcgcgatgccagt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:38407191_38407191TG>T	uc003jlc.2	+	7	1436	c.1090_1090TG>T	c.(1090-1092)tggfs	p.W364fs	EGFLAM_uc003jlb.2_Frame_Shift_Del_p.W364fs|EGFLAM_uc003jle.2_Frame_Shift_Del_p.W130fs|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	364	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.S367fs*12(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGACTACACCTGGGGGGGCTC	0.542													-	38407192	G	-	38407192	7	5	131	1	0	1	0	1	0	0	0	0	4966	1357	47	0	1135	0	EGFLAM	5	38407192	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	2225102	38407192	142508068	568	76743											
RICTOR	253260	broad.mit.edu	37	chr5	38963142	38963142	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcaaggctgcactggctcGcctaatgagaaaaacaattc	9	10	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:38963142G>A	uc003jlp.2	-	17	1426	c.1402C>T	c.(1402-1404)CGA>TGA	p.R468*	RICTOR_uc003jlo.2_Nonsense_Mutation_p.R468*|RICTOR_uc010ivf.2_Nonsense_Mutation_p.R183*	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	468					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					GCACTGGCTCGCCTAATGAGA	0.358													A	38963142	G	A	38963142	4	1	131	1	0	0	0	0	0	1	0	0	13358	1101	38	1	3812	1	RICTOR	5	38963142	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	555950	38963142	141952118	569	76744											
FBXO4	26272	broad.mit.edu	37	chr5	41941319	41941319	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatacagaggctgaaactcTgactggttttttgaatggca	12	6	1	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:41941319T>C	uc003jmq.2	+	7	1156	c.1100T>C	c.(1099-1101)CTG>CCG	p.L367P	FBXO4_uc003jmr.2_3'UTR	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN	F-box only protein 4 isoform 1	367					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			liver(1)	1		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				GCTGAAACTCTGACTGGTTTT	0.388													C	41941319	T	C	41941319	3	2	131	1	0	0	0	0	1	0	0	0	5748	1580	55	3	1152	3	FBXO4	5	41941319	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	2978177	41941319	138973941	570	76745											
FBXO4	26272	broad.mit.edu	37	chr5	41941337	41941337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgactggttttttgaatgGcattgagtggattcttgaag	12	4	2	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:41941337G>A	uc003jmq.2	+	7	1174	c.1118G>A	c.(1117-1119)GGC>GAC	p.G373D	FBXO4_uc003jmr.2_3'UTR	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN	F-box only protein 4 isoform 1	373					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			liver(1)	1		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TTTTTGAATGGCATTGAGTGG	0.373													A	41941337	G	A	41941337	3	1	131	1	0	0	0	0	1	0	0	0	5748	1203	42	2	1170	2	FBXO4	5	41941337	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	18	41941337	138973923	571	76746											
ZNF131	7690	broad.mit.edu	37	chr5	43174881	43174881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagatctgctccaggacagCcaggtgcacgattcacacat	9	14	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:43174881C>T	uc011cpw.1	+	7	1554	c.1518C>T	c.(1516-1518)AGC>AGT	p.S506S	ZNF131_uc003jnj.3_Silent_p.S227S|ZNF131_uc003jnk.2_Silent_p.S472S|ZNF131_uc003jnn.3_Silent_p.S227S|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	NM_003432	NP_003423	P52739	ZN131_HUMAN	zinc finger protein 131	506						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TCCAGGACAGCCAGGTGCACG	0.493													T	43174881	C	T	43174881	2	4	131	1	0	0	0	0	0	0	0	1	17718	738	26	2		2	ZNF131	5	43174881	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1233544	43174881	137740379	572	76747											
ITGA2	3673	broad.mit.edu	37	chr5	52344542	52344542	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatttatccttgggatgcagTaaagaattttttggaaaaat	8	3	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:52344542T>A	uc003joy.2	+	6	715	c.572T>A	c.(571-573)GTA>GAA	p.V191E	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.V115E|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	191	Extracellular (Potential).|VWFA.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGGGATGCAGTAAAGAATTTT	0.388													A	52344542	T	A	52344542	3	1	131	1	0	0	0	0	1	0	0	0	7875	1638	57	5	594	5	ITGA2	5	52344542	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	9169661	52344542	128570718	573	76748											
SNX18	112574	broad.mit.edu	37	chr5	53814892	53814892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagccacccagtgctggcGcagtgcgacgtcttccagca	12	16	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:53814892G>A	uc003jpj.3	+	1	1300	c.1110G>A	c.(1108-1110)GCG>GCA	p.A370A	SNX18_uc011cqg.1_Silent_p.A370A|SNX18_uc003jpi.3_Silent_p.A370A	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	sorting nexin 18 isoform b	370	PX.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding				0		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CAGTGCTGGCGCAGTGCGACG	0.622													A	53814892	G	A	53814892	2	1	131	1	0	0	0	0	0	0	0	1	14889	1074	38	1		1	SNX18	5	53814892	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1470350	53814892	127100368	574	76749											
DHX29	54505	broad.mit.edu	37	chr5	54603263	54603263	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcggcagcggcagcggTggccggcctggacactggct	19	13	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:54603263T>C	uc003jpx.2	-	1	259	c.139A>G	c.(139-141)ACC>GCC	p.T47A	SKIV2L2_uc003jpy.3_5'Flank|SKIV2L2_uc011cqi.1_5'Flank|DHX29_uc010ivw.2_RNA	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	47	Ala-rich.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GCGGCAGCGGTGGCCGGCCTG	0.687													C	54603263	T	C	54603263	3	2	131	1	0	0	0	0	1	0	0	0	4503	1696	59	3	4078	3	DHX29	5	54603263	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	788371	54603263	126311997	575	76750											
SKIV2L2	23517	broad.mit.edu	37	chr5	54618225	54618225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataagagagatgtagatttcGaaggtacagatgaacccatt	10	5	0	5			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:54618225G>A	uc003jpy.3	+	2	471	c.205G>A	c.(205-207)GAA>AAA	p.E69K	SKIV2L2_uc011cqi.1_Intron	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	69					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)|skin(1)	2		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGTAGATTTCGAAGGTACAGA	0.313													A	54618225	G	A	54618225	3	1	131	1	0	0	0	0	1	0	0	0	14360	1059	37	1	211	1	SKIV2L2	5	54618225	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	14962	54618225	126297035	576	76751											
PLK2	10769	broad.mit.edu	37	chr5	57753012	57753013	+	Frame_Shift_Ins	INS	-	-	A													agatagtgcaccaacctgcaINSaaaaaaagtcatgtcgaatg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:57753011_57753012C>CA	uc003jrn.3	-	6	1184_1185	c.1004_1005G>TG	c.(1003-1005)ttgfs	p.L335fs	PLK2_uc021xyx.1_Frame_Shift_Ins_p.L321fs	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.	335					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	p.L335fs*68(4)		endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CACCAACCTGCAAAAAAAAGTC	0.411													A	57753013	-	A	57753012	7	5	131	1	0	1	1	0	0	0	0	0	12096	131	5	0	1085	0	PLK2	5	57753012	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	3134787	57753012	123162248	577	76752											
CARTPT	9607	broad.mit.edu	37	chr5	71015160	71015160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgctgcccctcctgggcGccgccctgctgctgatgcta	13	17	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:71015160G>A	uc003kbv.1	+	1	167	c.40G>A	c.(40-42)GCC>ACC	p.A14T		NM_004291	NP_004282	Q16568	CART_HUMAN	cocaine- and amphetamine-regulated transcript	14					activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space				ovary(1)	1		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	CCTCCTGGGCGCCGCCCTGCT	0.652													A	71015160	G	A	71015160	3	1	131	1	0	0	0	0	1	0	0	0	2659	1087	38	1	42	1	CARTPT	5	71015160	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	13262148	71015160	109900100	578	76753											
HMGCR	3156	broad.mit.edu	37	chr5	74655087	74655087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcataggaggctacaaCgcccatgcagcaaacattgt	12	10	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:74655087C>T	uc003kdp.2	+	17	2406	c.2250C>T	c.(2248-2250)AAC>AAT	p.N750N	HMGCR_uc011cst.1_Silent_p.N770N|HMGCR_uc003kdq.2_Silent_p.N697N|HMGCR_uc010izo.2_Silent_p.N73N|HMGCR_uc010izp.2_Intron	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	750	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GAGGCTACAACGCCCATGCAG	0.468													T	74655087	C	T	74655087	2	4	131	1	0	0	0	0	0	0	0	1	7231	535	19	1		1	HMGCR	5	74655087	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3639927	74655087	106260173	579	76754											
IQGAP2	10788	broad.mit.edu	37	chr5	75871586	75871586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatgatatattgcattcaCgcactgaggtagggggaaaa	12	5	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:75871586C>T	uc003kek.2	+	5	672	c.450C>T	c.(448-450)CAC>CAT	p.H150H		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	150	CH.				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)		ATTGCATTCACGCACTGAGGT	0.284													T	75871586	C	T	75871586	2	4	131	1	0	0	0	0	0	0	0	1	7815	535	19	1		1	IQGAP2	5	75871586	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1216499	75871586	105043674	580	76755											
AP3B1	8546	broad.mit.edu	37	chr5	77334885	77334885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctattggattaaaaacatGcattttcatgcctataggaa	6	7	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:77334885G>A	uc003kfj.2	-	23	2916	c.2791C>T	c.(2791-2793)CAT>TAT	p.H931Y		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	931					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TTAAAAACATGCATTTTCATG	0.259									Hermansky-Pudlak_syndrome				A	77334885	G	A	77334885	3	1	131	1	0	0	0	0	1	0	0	0	744	1319	46	2	513	2	AP3B1	5	77334885	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1463299	77334885	103580375	581	76756											
BHMT	635	broad.mit.edu	37	chr5	78417152	78417152	+	Frame_Shift_Del	DEL	C	C	-													aaggagatttgcatggcgtgCcccccggcgagtgtgcagtg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:78417151_78417151GC>G	uc003kfu.4	+	4	693	c.588_588GC>G	c.(586-588)gtgfs	p.V196fs	BHMT_uc011cti.2_Intron	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA.	196	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	TGCATGGCGTGCCCCCCGGCG	0.493													-	78417152	C	-	78417152	7	5	131	1	0	1	0	1	0	0	0	0	1425	739	26	0	607	0	BHMT	5	78417152	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	1082267	78417152	102498108	582	76757											
THBS4	7060	broad.mit.edu	37	chr5	79366474	79366474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccccctaaggacaactgCaaatatgtgccaaattctgg	7	11	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:79366474C>T	uc003kgh.2	+	13	1784	c.1461C>T	c.(1459-1461)TGC>TGT	p.C487C	uc003kgi.3_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	487	TSP type-3 1.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGGACAACTGCAAATATGTGC	0.478													T	79366474	C	T	79366474	2	4	131	1	0	0	0	0	0	0	0	1	15853	718	25	2		2	THBS4	5	79366474	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	949322	79366474	101548786	583	76758											
VCAN	1462	broad.mit.edu	37	chr5	82833213	82833213	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caaaacggaattgtctactgCtgtgcaacctaatgaatcta	7	9	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:82833213C>G	uc003kii.3	+	8	4747	c.4391C>G	c.(4390-4392)GCT>GGT	p.A1464G	VCAN_uc003kij.3_Missense_Mutation_p.A477G|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.A128G	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1464	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTGTCTACTGCTGTGCAACCT	0.423													G	82833213	C	G	82833213	3	3	131	1	0	0	0	0	1	0	0	0	17135	797	28	5	4417	5	VCAN	5	82833213	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3466739	82833213	98082047	584	76759											
VCAN	1462	broad.mit.edu	37	chr5	82834710	82834710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggctctggagatgcagCatttagggacacccagactt	13	9	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:82834710C>T	uc003kii.3	+	8	6244	c.5888C>T	c.(5887-5889)GCA>GTA	p.A1963V	VCAN_uc003kij.3_Missense_Mutation_p.A976V|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.A627V	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1963	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGAGATGCAGCATTTAGGGAC	0.453													T	82834710	C	T	82834710	3	4	131	1	0	0	0	0	1	0	0	0	17135	710	25	2	5914	2	VCAN	5	82834710	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1497	82834710	98080550	585	76760											
VCAN	1462	broad.mit.edu	37	chr5	82836247	82836247	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgaggtgccaagcgctaaAgctgttactgctgatggatt	12	9	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:82836247A>C	uc003kii.3	+	8	7781	c.7425A>C	c.(7423-7425)AAA>AAC	p.K2475N	VCAN_uc003kij.3_Missense_Mutation_p.K1488N|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.K1139N	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2475	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CAAGCGCTAAAGCTGTTACTG	0.468													C	82836247	A	C	82836247	3	2	131	1	0	0	0	0	1	0	0	0	17135	69	3	5	7451	5	VCAN	5	82836247	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1537	82836247	98079013	586	76761											
EDIL3	10085	broad.mit.edu	37	chr5	83680199	83680199	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgagcgcttcatgatcccGtctcccggacgtgaccccgg	11	17	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:83680199G>A	uc003kio.1	-	1	413	c.-6C>T	c.(-8--4)GACGG>GATGG		EDIL3_uc003kip.1_Translation_Start_Site	NM_005711	NP_005702	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like						cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			skin(2)	2		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TCATGATCCCGTCTCCCGGAC	0.672													A	83680199	G	A	83680199	1	1	131	1	0	0	0	0	0	0	0	0	4915	1160	40	1		1	EDIL3	5	83680199	Translation_Start_Site	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	843952	83680199	97235061	587	76762											
CETN3	1070	broad.mit.edu	37	chr5	89701581	89701581	+	Frame_Shift_Del	DEL	T	T	-													agaatcttcagtacatcagcTttttttacatcaaaccccaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:89701580_89701580CT>C	uc003kjo.3	-	2	315	c.190_190AG>G	c.(190-192)gctfs	p.A64fs		NM_004365	NP_004356	O15182	CETN3_HUMAN	Homo sapiens centrin, EF-hand protein, 3 (CETN3), mRNA.	64	EF-hand 2.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		AGTACATCAGCTTTTTTTACA	0.313													-	89701581	T	-	89701581	7	5	131	1	0	1	0	1	0	0	0	0	3276	1606	56	0	326	0	CETN3	5	89701581	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	6021382	89701581	91213679	588	76763											
GPR98	84059	broad.mit.edu	37	chr5	90119297	90119297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttaacaaaacagtcgtcGtgctccagaaggatggggta	11	9	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:90119297G>A	uc003kju.2	+	76	16348	c.16252G>A	c.(16252-16254)GTG>ATG	p.V5418M	GPR98_uc003kjt.2_Missense_Mutation_p.V3124M|GPR98_uc003kjw.2_Missense_Mutation_p.V1079M	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5418	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AACAGTCGTCGTGCTCCAGAA	0.478													A	90119297	G	A	90119297	3	1	131	1	0	0	0	0	1	0	0	0	6721	1145	40	1	16554	1	GPR98	5	90119297	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	417716	90119297	90795963	589	76764											
ANKRD32	84250	broad.mit.edu	37	chr5	94024237	94024237	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctatttaccagccttgggGaaaactggtgtgcttgggtc	12	9	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:94024237G>A	uc003kkr.3	+	17	2228	c.2148G>A	c.(2146-2148)GGG>GGA	p.G716G	ANKRD32_uc003kks.2_Silent_p.G80G	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	716										ovary(2)	2		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CAGCCTTGGGGAAAACTGGTG	0.363													A	94024237	G	A	94024237	2	1	131	1	0	0	0	0	0	0	0	1	660	1161	41	4		4	ANKRD32	5	94024237	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	3904940	94024237	86891023	590	76765											
ARSK	153642	broad.mit.edu	37	chr5	94901772	94901772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcaactttatgaagacacGtgggacttcctttctgaatg	8	8	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:94901772G>A	uc003kld.2	+	2	355	c.197G>A	c.(196-198)CGT>CAT	p.R66H	ARSK_uc010jbg.2_Translation_Start_Site|ARSK_uc011cum.1_RNA	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	arylsulfatase K precursor	66						extracellular region	arylsulfatase activity|metal ion binding			pancreas(1)	1		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		ATGAAGACACGTGGGACTTCC	0.393													A	94901772	G	A	94901772	3	1	131	1	0	0	0	0	1	0	0	0	996	1145	40	1	203	1	ARSK	5	94901772	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	877535	94901772	86013488	591	76766											
RHOBTB3	22836	broad.mit.edu	37	chr5	95119641	95119641	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcatccatgaaccttgatAtagttgacctgcttaaaaag	8	8	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:95119641A>G	uc003klm.2	+	10	2134	c.1597A>G	c.(1597-1599)ATA>GTA	p.I533V		NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	533	Interaction with Rab9.			I->K: Abolishes interaction with RAB9A.	retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)|skin(1)	2		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GAACCTTGATATAGTTGACCT	0.368													G	95119641	A	G	95119641	3	3	131	1	0	0	0	0	1	0	0	0	13335	449	16	3	1635	3	RHOBTB3	5	95119641	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	217869	95119641	85795619	592	76767											
RHOBTB3	22836	broad.mit.edu	37	chr5	95119656	95119656	+	Frame_Shift_Del	DEL	A	A	-													ttgatatagttgacctgcttAaaaaggccaaggtaattgac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:95119656delA	uc003klm.2	+	10	2149	c.1612delA	c.(1612-1614)AAAfs	p.K538fs		NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	538	Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)|skin(1)	2		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TGACCTGCTTAAAAAGGCCAA	0.343													-	95119656	A	-	95119656	7	5	131	1	0	1	0	1	0	0	0	0	13335	363	13	0	1650	0	RHOBTB3	5	95119656	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	15	95119656	85795604	593	76768											
ELL2	22936	broad.mit.edu	37	chr5	95234256	95234256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtaggtcttgagtcccccGgccttctggagtgctagggg	16	10	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:95234256G>A	uc003klr.3	-	8	1563	c.1213C>T	c.(1213-1215)CGG>TGG	p.R405W		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	405					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				central_nervous_system(1)	1		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TGAGTCCCCCGGCCTTCTGGA	0.483													A	95234256	G	A	95234256	3	1	131	1	0	0	0	0	1	0	0	0	5063	1115	39	1	729	1	ELL2	5	95234256	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	114600	95234256	85681004	594	76769											
ERAP2	64167	broad.mit.edu	37	chr5	96244744	96244744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagcagccccgcacttctcGaaggtctgagttacttggaa	10	12	2	1	rs150106511		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:96244744G>A	uc003kmq.2	+	14	2802	c.2092G>A	c.(2092-2094)GAA>AAA	p.E698K	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.E698K|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.E647K|ERAP2_uc003kmu.2_RNA	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	698	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CGCACTTCTCGAAGGTCTGAG	0.413													A	96244744	G	A	96244744	3	1	131	1	0	0	0	0	1	0	0	0	5204	1059	37	1	2142	1	ERAP2	5	96244744	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1010488	96244744	84670516	595	76770											
SLCO6A1	133482	broad.mit.edu	37	chr5	101755728	101755728	+	Splice_Site	DEL	A	A	-													ctggaattaaaacaagtcctAaaaaaaaggaggagaaaaac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:101755727_101755727TA>T	uc003knn.3	-	8	1449	c.1277_splice	c.e8-1	p.G426_splice	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Splice_Site_p.G426_splice|SLCO6A1_uc003knq.3_Splice_Site_p.G364_splice	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	426						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAACAAGTCCTAAAAAAAAGG	0.343													-	101755728	A	-	101755728	8	5	131	1	0	1	0	1	0	0	1	0	14732	377	13	0		0	SLCO6A1	5	101755728	Splice_Site	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	5510984	101755728	79159532	596	76771											
NUDT12	83594	broad.mit.edu	37	chr5	102895167	102895167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattgacaattgatctgtcaCacctatagatggaagaaaaa	7	6	2	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:102895167C>T	uc003koi.2	-	3	302	c.209G>A	c.(208-210)TGT>TAT	p.C70Y	NUDT12_uc011cvb.1_Missense_Mutation_p.C52Y|NUDT12_uc010jbq.1_3'UTR	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN	nudix-type motif 12	70	ANK 2.					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity				0		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TGATCTGTCACACCTATAGAT	0.323													T	102895167	C	T	102895167	3	4	131	1	0	0	0	0	1	0	0	0	10728	478	17	4	1199	4	NUDT12	5	102895167	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1139439	102895167	78020093	597	76772											
FBXL17	64839	broad.mit.edu	37	chr5	107559886	107559886	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcctacatattgaagcTcaggacagtgttcagcaaat	9	8	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:107559886T>G	uc011cvc.1	-	5	1957	c.1550A>C	c.(1549-1551)GAG>GCG	p.E517A	FBXL17_uc003kon.3_Missense_Mutation_p.E119A	NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	517											0		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		ATATTGAAGCTCAGGACAGTG	0.388													G	107559886	T	G	107559886	3	3	131	1	0	0	0	0	1	0	0	0	5713	1551	54	5	575	5	FBXL17	5	107559886	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	4664719	107559886	73355374	598	76773											
KCNN2	3781	broad.mit.edu	37	chr5	113698877	113698877	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagcgcaagcggctcagCgactacgcgctcatcttcgg	12	13	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:113698877C>T	uc003kqo.2	+	1	862	c.405C>T	c.(403-405)AGC>AGT	p.S135S		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	135						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		AGCGGCTCAGCGACTACGCGC	0.547													T	113698877	C	T	113698877	2	4	131	1	0	0	0	0	0	0	0	1	8079	767	27	1		1	KCNN2	5	113698877	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	6138991	113698877	67216383	599	76774											
AQPEP	206338	broad.mit.edu	37	chr5	115298452	115298452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgagcgcgtcccaccgtcGgagctgcctggactcaggga	15	14	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:115298452G>A	uc003kro.2	+	1	302	c.138G>A	c.(136-138)TCG>TCA	p.S46S	AQPEP_uc003krp.2_RNA|uc003krn.1_5'UTR	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	46	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						TCCCACCGTCGGAGCTGCCTG	0.701													A	115298452	G	A	115298452	2	1	131	1	0	0	0	0	0	0	0	1	834	1103	39	1		1	AQPEP	5	115298452	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1599575	115298452	65616808	600	76775											
SEMA6A	57556	broad.mit.edu	37	chr5	115783385	115783385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcgccgatgatcacagaCgcagtagacggtgatgcccg	13	11	1	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:115783385C>T	uc010jck.2	-	19	2726	c.2017G>A	c.(2017-2019)GTC>ATC	p.V673I	SEMA6A_uc003krx.3_Missense_Mutation_p.V690I|SEMA6A_uc011cwe.1_Missense_Mutation_p.V52I|SEMA6A_uc003krv.3_Missense_Mutation_p.V100I|SEMA6A_uc003krw.3_Missense_Mutation_p.V150I|SEMA6A_uc010jcj.2_Missense_Mutation_p.V217I	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	673	Cytoplasmic (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGATCACAGACGCAGTAGACG	0.622													T	115783385	C	T	115783385	3	4	131	1	0	0	0	0	1	0	0	0	14039	536	19	1	1079	1	SEMA6A	5	115783385	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	484933	115783385	65131875	601	76776											
ZNF608	57507	broad.mit.edu	37	chr5	123983920	123983920	+	Frame_Shift_Del	DEL	T	T	-													tccgttttgcagttggtagcTtttttgcccttttctttatc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:123983920delT	uc003ktq.1	-	4	2280	c.2157delA	c.(2155-2157)AAAfs	p.K719fs	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Frame_Shift_Del_p.K719fs|ZNF608_uc003ktt.1_Frame_Shift_Del_p.K719fs	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	719						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AGTTGGTAGCTTTTTTGCCCT	0.498													-	123983920	T	-	123983920	7	5	131	1	0	1	0	1	0	0	0	0	18031	1606	56	0	2405	0	ZNF608	5	123983920	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	8200535	123983920	56931340	602	76777											
PHAX	51808	broad.mit.edu	37	chr5	125939525	125939525	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attaacaacatatggggtgcTgtgctgcaggaacagaatca	11	7	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:125939525T>G	uc003kua.1	+	2	382	c.360T>G	c.(358-360)GCT>GCG	p.A120A		NM_032177	NP_115553	Q9H814	PHAX_HUMAN	RNA U, small nuclear RNA export adaptor	120	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding				0						TATGGGGTGCTGTGCTGCAGG	0.478													G	125939525	T	G	125939525	2	3	131	1	0	0	0	0	0	0	0	1	11813	1567	55	5		5	PHAX	5	125939525	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1955605	125939525	54975735	603	76778											
RAPGEF6	51735	broad.mit.edu	37	chr5	130831315	130831315	+	Frame_Shift_Del	DEL	A	A	-													gggtcaccttcaaaatcattAaaatgattatttacccataa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:130831314_130831314TA>T	uc003kvn.2	-	12	1665	c.1459_1459TA>A	c.(1459-1461)aatfs	p.N487fs	RAPGEF6_uc003kvp.2_Frame_Shift_Del_p.N537fs|RAPGEF6_uc003kvo.2_Frame_Shift_Del_p.N487fs|RAPGEF6_uc010jdi.2_Frame_Shift_Del_p.N487fs|RAPGEF6_uc010jdj.2_Frame_Shift_Del_p.N487fs|RAPGEF6_uc003kvq.3_Frame_Shift_Del_p.N204fs|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Frame_Shift_Del_p.N487fs|RAPGEF6_uc010jdk.3_Frame_Shift_Del_p.N487fs	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	487	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCAAAATCATTAAAATGATTA	0.353													-	130831315	A	-	130831315	7	5	131	1	0	1	0	1	0	0	0	0	13048	359	13	0	3897	0	RAPGEF6	5	130831315	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	4891790	130831315	50083945	604	76779											
SHROOM1	134549	broad.mit.edu	37	chr5	132159958	132159958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggggtgtggcttgtgggCctggaaatacctacagaacc	16	8	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:132159958C>T	uc003kxx.2	-	7	2200	c.1395G>A	c.(1393-1395)AGG>AGA	p.R465R	SHROOM1_uc003kxy.1_Silent_p.R465R	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	shroom family member 1	465					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			pancreas(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGCTTGTGGGCCTGGAAATAC	0.567													T	132159958	C	T	132159958	2	4	131	1	0	0	0	0	0	0	0	1	14293	738	26	2		2	SHROOM1	5	132159958	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1328643	132159958	48755302	605	76780											
PHF15	23338	broad.mit.edu	37	chr5	133914490	133914490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgggcctggttcacggaCgactccagacaaagccccca	12	15	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:133914490C>T	uc003kzo.1	+	11	2035	c.1856C>T	c.(1855-1857)ACG>ATG	p.T619M	PHF15_uc011cxt.1_Missense_Mutation_p.T663M|PHF15_uc003kzk.2_Missense_Mutation_p.T679M|PHF15_uc003kzm.2_Missense_Mutation_p.T620M|PHF15_uc003kzn.2_3'UTR	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	619	Pro-rich.				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTTCACGGACGACTCCAGAC	0.657													T	133914490	C	T	133914490	3	4	131	1	0	0	0	0	1	0	0	0	11826	536	19	1	1894	1	PHF15	5	133914490	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1754532	133914490	47000770	606	76781											
TGFBI	7045	broad.mit.edu	37	chr5	135391436	135391436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtacgggaccctgttcaCgatggaccgggtgctgaccc	15	12	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:135391436C>T	uc003lbf.3	+	11	1639	c.1478C>T	c.(1477-1479)ACG>ATG	p.T493M	TGFBI_uc003lbg.3_Missense_Mutation_p.T226M|TGFBI_uc003lbh.3_Missense_Mutation_p.T319M|TGFBI_uc011cyb.1_Missense_Mutation_p.T319M|TGFBI_uc010jed.2_Missense_Mutation_p.T226M	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	493	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACCCTGTTCACGATGGACCGG	0.567													T	135391436	C	T	135391436	3	4	131	1	0	0	0	0	1	0	0	0	15817	536	19	1	1520	1	TGFBI	5	135391436	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1476946	135391436	45523824	607	76782											
PKD2L2	27039	broad.mit.edu	37	chr5	137244597	137244597	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaggatttcttgtttttggAtcacaagttgatgacttttc	8	5	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:137244597A>G	uc003lby.2	+	8	1346	c.1290A>G	c.(1288-1290)GGA>GGG	p.G430G	PKD2L2_uc003lbw.1_Silent_p.G430G|PKD2L2_uc003lbx.2_Intron|PKD2L2_uc011cyi.1_Silent_p.G38G	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	430	Extracellular (Potential).					integral to membrane	calcium ion binding|ion channel activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTGTTTTTGGATCACAAGTTG	0.303													G	137244597	A	G	137244597	2	3	131	1	0	0	0	0	0	0	0	1	11968	320	12	3		3	PKD2L2	5	137244597	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1853161	137244597	43670663	608	76783											
CTNNA1	1495	broad.mit.edu	37	chr5	138145810	138145810	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaacatggttcgggcagctCgagctttgctctctgctgtt	12	11	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:138145810C>T	uc003ldh.2	+	4	480	c.385C>T	c.(385-387)CGA>TGA	p.R129*	CTNNA1_uc011cyx.1_Nonsense_Mutation_p.R26*|CTNNA1_uc011cyy.1_Nonsense_Mutation_p.R6*|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Nonsense_Mutation_p.R129*	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	129	Interaction with JUP and CTNNB1.|Involved in homodimerization.			R -> P (in Ref. 3; AAA18949).	adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCGGGCAGCTCGAGCTTTGCT	0.473													T	138145810	C	T	138145810	4	4	131	1	0	0	0	0	0	1	0	0	4012	876	31	1	395	1	CTNNA1	5	138145810	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	901213	138145810	42769450	609	76784											
CTNNA1	1495	broad.mit.edu	37	chr5	138266535	138266535	+	Frame_Shift_Del	DEL	A	A	-													tcagaggtaaaggaccactcAaaaatacatcggatgtcatc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:138266534_138266534CA>C	uc003ldh.3	+	15	2303	c.2208_2208CA>C	c.(2206-2208)ctcfs	p.L736fs	CTNNA1_uc011cyx.2_Frame_Shift_Del_p.L633fs|CTNNA1_uc011cyy.2_Frame_Shift_Del_p.L613fs|CTNNA1_uc003ldi.3_Frame_Shift_Del_p.L434fs|CTNNA1_uc003ldj.3_Frame_Shift_Del_p.L736fs|CTNNA1_uc003ldl.3_Frame_Shift_Del_p.L366fs	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	736					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGGACCACTCAAAAATACAT	0.468													-	138266535	A	-	138266535	7	5	131	1	0	1	0	1	0	0	0	0	4012	131	5	0	2267	0	CTNNA1	5	138266535	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	120725	138266535	42648725	610	76785											
PCDHA1	56147	broad.mit.edu	37	chr5	140166926	140166926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgataatgctccagaactgGcggtcacttcattgtatttg	9	8	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:140166926G>A	uc003lhb.2	+	1	1051	c.1051G>A	c.(1051-1053)GCG>ACG	p.A351T	PCDHA1_uc003lha.2_Missense_Mutation_p.A351T|PCDHA1_uc003lgz.2_Missense_Mutation_p.A351T	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	351	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGAACTGGCGGTCACTTC	0.483													A	140166926	G	A	140166926	3	1	131	1	0	0	0	0	1	0	0	0	11519	1203	42	2	1053	2	PCDHA1	5	140166926	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1900391	140166926	40748334	611	76786											
PCDHA10	56139	broad.mit.edu	37	chr5	140237715	140237715	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaggtggccctggtggatgtCaacgtgtacctgatcatcgc	14	10	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:140237715C>G	uc003lhx.2	+	1	2082	c.2082C>G	c.(2080-2082)GTC>GTG	p.V694V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Silent_p.V694V	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	694	Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGATGTCAACGTGTACC	0.672													G	140237715	C	G	140237715	2	3	131	1	0	0	0	0	0	0	0	1	11520	813	29	5		5	PCDHA10	5	140237715	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	70789	140237715	40677545	612	76787											
PCDHA11	56138	broad.mit.edu	37	chr5	140250745	140250745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggactttggcgggcgccgCgagcccagaggctgcgctgg	18	14	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:140250745C>T	uc003lia.2	+	1	2915	c.2057C>T	c.(2056-2058)GCG>GTG	p.A686V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A686V	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	686	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGGCGCCGCGAGCCCAGAG	0.667													T	140250745	C	T	140250745	3	4	131	1	0	0	0	0	1	0	0	0	11521	768	27	1	2059	1	PCDHA11	5	140250745	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	13030	140250745	40664515	613	76788											
PCDHA12	56137	broad.mit.edu	37	chr5	140256290	140256290	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactcgttggtgctggacagCgccctggaccgcgagagcgt	15	12	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:140256290C>T	uc003lic.2	+	1	1360	c.1233C>T	c.(1231-1233)AGC>AGT	p.S411S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.S411S	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	411	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGACAGCGCCCTGGACC	0.607													T	140256290	C	T	140256290	2	4	131	1	0	0	0	0	0	0	0	1	11522	767	27	1		1	PCDHA12	5	140256290	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	5545	140256290	40658970	614	76789											
PCDHB1	29930	broad.mit.edu	37	chr5	140431806	140431806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactggtgtacagagcccagGtatcagagaacagccccaat	11	11	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:140431806G>A	uc003lik.1	+	1	828	c.751G>A	c.(751-753)GTA>ATA	p.V251I		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	251	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGAGCCCAGGTATCAGAGAA	0.567													A	140431806	G	A	140431806	3	1	131	1	0	0	0	0	1	0	0	0	11534	1261	44	4	753	4	PCDHB1	5	140431806	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	175516	140431806	40483454	615	76790											
PCDHB2	56133	broad.mit.edu	37	chr5	140474383	140474383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccagaaagcaatggaggcCggagaggggaaggagcgcgt	19	7	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:140474383C>T	uc003lil.2	+	1	147	c.9C>T	c.(7-9)GCC>GCT	p.A3A	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	3					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGGAGGCCGGAGAGGGGA	0.532													T	140474383	C	T	140474383	2	4	131	1	0	0	0	0	0	0	0	1	11542	639	23	1		1	PCDHB2	5	140474383	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	42577	140474383	40440877	616	76791											
PCDHB2	56133	broad.mit.edu	37	chr5	140474556	140474556	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggctggagataggagaacTtgctgtgaggggggccaggg	22	5	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:140474556T>G	uc003lil.2	+	1	320	c.182T>G	c.(181-183)CTT>CGT	p.L61R	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	61	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAGGAGAACTTGCTGTGAGG	0.502													G	140474556	T	G	140474556	3	3	131	1	0	0	0	0	1	0	0	0	11542	1609	56	5	184	5	PCDHB2	5	140474556	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	173	140474556	40440704	617	76792											
PCDHB5	26167	broad.mit.edu	37	chr5	140517067	140517067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcccaggcccaggccgactCgctcactgtctacctggtgg	13	16	2	0	rs150651540		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:140517067C>T	uc003liq.2	+	1	2268	c.2051C>T	c.(2050-2052)TCG>TTG	p.S684L		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	684	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGCCGACTCGCTCACTGTC	0.697													T	140517067	C	T	140517067	3	4	131	1	0	0	0	0	1	0	0	0	11545	893	31	1	2053	1	PCDHB5	5	140517067	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	42511	140517067	40398193	618	76793											
PCDHB6	56130	broad.mit.edu	37	chr5	140530541	140530541	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatccaggttttggacatcAatgacaacgtccccgagttt	9	10	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:140530541A>G	uc003lir.2	+	1	703	c.703A>G	c.(703-705)AAT>GAT	p.N235D	PCDHB6_uc011dah.1_Missense_Mutation_p.N99D	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	235	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGGACATCAATGACAACGT	0.572													G	140530541	A	G	140530541	3	3	131	1	0	0	0	0	1	0	0	0	11546	130	5	3	705	3	PCDHB6	5	140530541	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	13474	140530541	40384719	619	76794											
PCDHB7	56129	broad.mit.edu	37	chr5	140553461	140553461	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataatcgacccgagctgctcCtgtcttcacttactagccca	6	15	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:140553461C>A	uc003lit.2	+	1	1219	c.1045C>A	c.(1045-1047)CTG>ATG	p.L349M		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	349	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGCTGCTCCTGTCTTCACT	0.463													A	140553461	C	A	140553461	3	1	131	1	0	0	0	0	1	0	0	0	11547	680	24	5	1047	5	PCDHB7	5	140553461	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	22920	140553461	40361799	620	76795											
PCDHB7	56129	broad.mit.edu	37	chr5	140554770	140554770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggaagtggaagaaaatcGcccatttcagaataatttgg	11	6	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:140554770G>A	uc003lit.2	+	1	2528	c.2354G>A	c.(2353-2355)CGC>CAC	p.R785H	PCDHB8_uc011dai.1_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	785	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGAAAATCGCCCATTTCAG	0.443													A	140554770	G	A	140554770	3	1	131	1	0	0	0	0	1	0	0	0	11547	1087	38	1	2356	1	PCDHB7	5	140554770	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1309	140554770	40360490	621	76796											
PCDHB8	56128	broad.mit.edu	37	chr5	140559570	140559570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggacaatggcgagcctcCgtgctcggccaccgccacgc	12	17	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:140559570C>T	uc011dai.1	+	1	2141	c.1955C>T	c.(1954-1956)CCG>CTG	p.P652L	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	652	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGAGCCTCCGTGCTCGGCC	0.711													T	140559570	C	T	140559570	3	4	131	1	0	0	0	0	1	0	0	0	11548	652	23	1	1957	1	PCDHB8	5	140559570	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4800	140559570	40355690	622	76797											
PCDHB15	56121	broad.mit.edu	37	chr5	140626234	140626234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgagaattctccagagaCagaagtggccctgtttagga	11	10	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:140626234C>T	uc003lje.2	+	1	1088	c.1088C>T	c.(1087-1089)ACA>ATA	p.T363I		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	363	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCCAGAGACAGAAGTGGCC	0.418													T	140626234	C	T	140626234	3	4	131	1	0	0	0	0	1	0	0	0	11540	478	17	4	1090	4	PCDHB15	5	140626234	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	66664	140626234	40289026	623	76798											
PCDHGA7	56108	broad.mit.edu	37	chr5	140762727	140762727	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggcagcttggtcactgcGggcaggatagaccgggaaga	17	9	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:140762727G>A	uc003lka.1	+	1	261	c.261G>A	c.(259-261)GCG>GCA	p.A87A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Silent_p.A87A	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	87	Cadherin 1.|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)			TGGTCACTGCGGGCAGGATAG	0.572													A	140762727	G	A	140762727	2	1	131	1	0	0	0	0	0	0	0	1	11559	1103	39	1		1	PCDHGA7	5	140762727	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	136493	140762727	40152533	624	76799											
PCDHGA7	56108	broad.mit.edu	37	chr5	140763083	140763083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggaccgggaggaagagcGggttcaccacctggtcctca	15	12	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:140763083G>A	uc003lka.1	+	1	617	c.617G>A	c.(616-618)CGG>CAG	p.R206Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.R206Q	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	206	Extracellular (Potential).|Cadherin 2.				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)			GAGGAAGAGCGGGTTCACCAC	0.622													A	140763083	G	A	140763083	3	1	131	1	0	0	0	0	1	0	0	0	11559	1116	39	1	619	1	PCDHGA7	5	140763083	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	356	140763083	40152177	625	76800											
PCDHGB5	56101	broad.mit.edu	37	chr5	140779342	140779342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctgcgcgtgttggtgggcGaccgaaacgacaacgcaccg	15	13	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:140779342G>A	uc003lkf.1	+	1	1648	c.1648G>A	c.(1648-1650)GAC>AAC	p.D550N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.D550N	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	550	Extracellular (Potential).|Cadherin 5.				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)			GTTGGTGGGCGACCGAAACGA	0.677													A	140779342	G	A	140779342	3	1	131	1	0	0	0	0	1	0	0	0	11566	1058	37	1	1650	1	PCDHGB5	5	140779342	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	16259	140779342	40135918	626	76801											
PCDHGA11	56105	broad.mit.edu	37	chr5	140800995	140800995	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgaagcgcggagtccgcatCgtctccagagggaagacaca	14	12	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:140800995C>T	uc003lkq.1	+	1	459	c.201C>T	c.(199-201)ATC>ATT	p.I67I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Silent_p.I67I|PCDHGA11_uc003lkp.1_Silent_p.I67I	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	67	Extracellular (Potential).|Cadherin 1.				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)			GAGTCCGCATCGTCTCCAGAG	0.612													T	140800995	C	T	140800995	2	4	131	1	0	0	0	0	0	0	0	1	11552	874	31	1		1	PCDHGA11	5	140800995	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	21653	140800995	40114265	627	76802											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811757	140811757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtctctgtgaccgcccaCgaccccgactgtgaagagaa	10	15	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:140811757C>T	uc003lkt.1	+	1	1600	c.1431C>T	c.(1429-1431)CAC>CAT	p.H477H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.H477H	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	477	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCGCCCACGACCCCGACT	0.562													T	140811757	C	T	140811757	2	4	131	1	0	0	0	0	0	0	0	1	11553	535	19	1		1	PCDHGA12	5	140811757	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	10762	140811757	40103503	628	76803											
HDAC3	8841	broad.mit.edu	37	chr5	141008157	141008157	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccatcccgcaggggcacGttcagacagtagtagcggcc	13	13	1	1	rs141006049		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:141008157G>A	uc003llf.2	-	8	726	c.660C>T	c.(658-660)AAC>AAT	p.N220N	HDAC3_uc003lle.1_Silent_p.N163N	NM_003883	NP_003874	O15379	HDAC3_HUMAN	histone deacetylase 3	220	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GCAGGGGCACGTTCAGACAGT	0.542													A	141008157	G	A	141008157	2	1	131	1	0	0	0	0	0	0	0	1	7008	1136	40	1		1	HDAC3	5	141008157	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	196400	141008157	39907103	629	76804											
ARHGAP26	23092	broad.mit.edu	37	chr5	142500657	142500657	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaacagtagcagccatcaTggacatcaaatttcagaaca	7	9	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:142500657T>C	uc011dbj.1	+	18	1678	c.1643T>C	c.(1642-1644)ATG>ACG	p.M548T	ARHGAP26_uc003lmt.2_Missense_Mutation_p.M548T|ARHGAP26_uc003lmw.2_Missense_Mutation_p.M548T	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	GTPase regulator associated with the focal	548	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(1)	1		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGCCATCATGGACATCAAA	0.443													C	142500657	T	C	142500657	3	2	131	1	0	0	0	0	1	0	0	0	875	1464	51	3	1713	3	ARHGAP26	5	142500657	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1492500	142500657	38414603	630	76805											
SH3RF2	153769	broad.mit.edu	37	chr5	145442093	145442093	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccagccaccctcaaggcGtcccagcctgaagcagcgtc	10	18	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:145442093G>A	uc003lnt.2	+	10	2257	c.2019G>A	c.(2017-2019)GCG>GCA	p.A673A	SH3RF2_uc011dbl.1_Silent_p.A673A|SH3RF2_uc003lnu.2_Silent_p.A164A|SH3RF2_uc011dbn.1_Silent_p.A164A|SH3RF2_uc011dbo.1_Silent_p.A130A	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	673							ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCTCAAGGCGTCCCAGCCTG	0.577													A	145442093	G	A	145442093	2	1	131	1	0	0	0	0	0	0	0	1	14259	1132	40	1		1	SH3RF2	5	145442093	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2941436	145442093	35473167	631	76806											
TCERG1	10915	broad.mit.edu	37	chr5	145849218	145849218	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcagtttctgaatggactgAatataaaacagcagatggga	11	5	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:145849218A>T	uc003lob.2	+	7	1350	c.1310A>T	c.(1309-1311)GAA>GTA	p.E437V	TCERG1_uc003loc.2_Missense_Mutation_p.E416V|TCERG1_uc011dbt.1_Missense_Mutation_p.E416V	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	437	WW 2.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATGGACTGAATATAAAACA	0.413													T	145849218	A	T	145849218	3	4	131	1	0	0	0	0	1	0	0	0	15682	246	9	5	1336	5	TCERG1	5	145849218	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	407125	145849218	35066042	632	76807											
CCNJL	79616	broad.mit.edu	37	chr5	159707575	159707575	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccacggtgtagagctgcttGgaggtggtgacgttgtagcg	18	7	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:159707575G>T	uc003lyb.1	-	3	489	c.237C>A	c.(235-237)TCC>TCA	p.S79S	CCNJL_uc011dee.1_Silent_p.S79S|CCNJL_uc003lyc.1_RNA|CCNJL_uc011def.1_Silent_p.S79S	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	cyclin J-like	79	Cyclin N-terminal.					nucleus					0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGCTGCTTGGAGGTGGTGA	0.627													T	159707575	G	T	159707575	2	4	131	1	0	0	0	0	0	0	0	1	2929	1335	47	5		5	CCNJL	5	159707575	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	13858357	159707575	21207685	633	76808											
ATP10B	23120	broad.mit.edu	37	chr5	160042941	160042941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctcacgccggaaactggCccatctccggaagtcctctt	9	16	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:160042941C>T	uc003lym.1	-	17	3404	c.2557G>A	c.(2557-2559)GCC>ACC	p.A853T	ATP10B_uc010jit.1_Missense_Mutation_p.A170T|ATP10B_uc003lyn.2_Missense_Mutation_p.A411T	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	853	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGAAACTGGCCCATCTCCGG	0.507													T	160042941	C	T	160042941	3	4	131	1	0	0	0	0	1	0	0	0	1117	739	26	2	1868	2	ATP10B	5	160042941	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	335366	160042941	20872319	634	76809											
GABRA1	2554	broad.mit.edu	37	chr5	161292758	161292758	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagtgaagactgatatcttCgtcaccagtttcggacccgt	10	10	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:161292758C>T	uc010jiw.2	+	5	687	c.219C>T	c.(217-219)TTC>TTT	p.F73F	GABRA1_uc010jix.2_Silent_p.F73F|GABRA1_uc010jiy.2_Silent_p.F73F|GABRA1_uc003lyx.3_Silent_p.F73F|GABRA1_uc010jiz.2_Silent_p.F73F|GABRA1_uc010jja.2_Silent_p.F73F|GABRA1_uc010jjb.2_Silent_p.F73F	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	73	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CTGATATCTTCGTCACCAGTT	0.398													T	161292758	C	T	161292758	2	4	131	1	0	0	0	0	0	0	0	1	6160	883	31	1		1	GABRA1	5	161292758	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1249817	161292758	19622502	635	76810											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171785810	171785810	+	Frame_Shift_Del	DEL	C	C	-													cagagaaaactcatcctgcaCcccatcctggccttcgaggc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:171785810delC	uc003mbr.2	-	8	805	c.634delG	c.(634-636)GTGfs	p.V212fs		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	212					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCATCCTGCACCCCATCCTGG	0.587													-	171785810	C	-	171785810	7	5	131	1	0	1	0	1	0	0	0	0	14257	507	18	0	2125	0	SH3PXD2B	5	171785810	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	10493052	171785810	9129450	636	76811											
DUSP1	1843	broad.mit.edu	37	chr5	172195819	172195819	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtagctcagcgcactgttCgtggagtggacagggatgga	17	7	1	0	rs138845473		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:172195819C>T	uc003mbv.1	-	4	1298	c.1050G>A	c.(1048-1050)ACG>ACA	p.T350T	DUSP1_uc011dez.1_Silent_p.T208T|DUSP1_uc003mbu.1_Silent_p.T238T	NM_004417	NP_004408	P28562	DUS1_HUMAN	dual specificity phosphatase 1	350	Tyrosine-protein phosphatase.				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			breast(2)|ovary(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		GCGCACTGTTCGTGGAGTGGA	0.622													T	172195819	C	T	172195819	2	4	131	1	0	0	0	0	0	0	0	1	4809	871	31	1		1	DUSP1	5	172195819	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	410009	172195819	8719441	637	76812											
BNIP1	662	broad.mit.edu	37	chr5	172585829	172585829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcagaacttcttcagggaGgagatctcttaaggcaaagg	12	7	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:172585829G>A	uc003mcj.3	+	4	456	c.352G>A	c.(352-354)GGA>AGA	p.G118R	BNIP1_uc003mci.3_Missense_Mutation_p.G161R|BNIP1_uc003mck.3_Intron|BNIP1_uc003mcl.3_Intron	NM_001205	NP_001196	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kD interacting protein 1	118	Cytoplasmic (Potential).				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTTCAGGGAGGAGATCTCTT	0.413													A	172585829	G	A	172585829	3	1	131	1	0	0	0	0	1	0	0	0	1476	1001	35	4	499	4	BNIP1	5	172585829	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	390010	172585829	8329431	638	76813											
GPRIN1	114787	broad.mit.edu	37	chr5	176023843	176023843	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcccgcccgcgagcagcacCgcggccggcgcacactctgc	13	20	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:176023843C>A	uc003meo.1	-	2	3168	c.2993G>T	c.(2992-2994)CGG>CTG	p.R998L		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	998	Interaction with GNAO1 (By similarity).					growth cone|plasma membrane				ovary(2)	2	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGAGCAGCACCGCGGCCGGCG	0.682													A	176023843	C	A	176023843	3	1	131	1	0	0	0	0	1	0	0	0	6729	652	23	5	37	5	GPRIN1	5	176023843	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3438014	176023843	4891417	639	76814											
SLC34A1	6569	broad.mit.edu	37	chr5	176815279	176815279	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccacatcttgcccacagcTggacgagtctgtgataacca	9	14	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:176815279T>C	uc003mgk.3	+	8	943	c.842T>C	c.(841-843)CTG>CCG	p.L281P		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	solute carrier family 34 (sodium phosphate),	281	Extracellular (Potential).				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCCCACAGCTGGACGAGTCT	0.587													C	176815279	T	C	176815279	3	2	131	1	0	0	0	0	1	0	0	0	14567	1594	55	3	868	3	SLC34A1	5	176815279	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	791436	176815279	4099981	640	76815											
DDX41	51428	broad.mit.edu	37	chr5	176940358	176940358	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagcacctgcccacctggAtgacatccaggctggcagcc	12	15	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:176940358A>C	uc003mho.2	-	11	1247	c.1226T>G	c.(1225-1227)ATC>AGC	p.I409S	DOK3_uc003mhi.3_5'Flank|DOK3_uc003mhj.3_5'Flank|DOK3_uc003mhl.2_5'Flank|DDX41_uc003mhm.2_Missense_Mutation_p.I189S|DDX41_uc003mhn.2_Missense_Mutation_p.I278S|DDX41_uc003mhp.2_Missense_Mutation_p.I278S|DDX41_uc003mhq.1_Missense_Mutation_p.I189S	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	409	Helicase C-terminal.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GCCCACCTGGATGACATCCAG	0.597													C	176940358	A	C	176940358	3	2	131	1	0	0	0	0	1	0	0	0	4361	333	12	5	670	5	DDX41	5	176940358	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	125079	176940358	3974902	641	76816											
ZNF354B	117608	broad.mit.edu	37	chr5	178309869	178309869	+	Frame_Shift_Del	DEL	A	A	-													gaaacagcaggacaaaaatgAaaatttacaaataatttcag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:178309869delA	uc003mjl.2	+	5	642	c.416delA	c.(415-417)GAAfs	p.E139fs	ZNF354B_uc003mjm.2_Frame_Shift_Del_p.E139fs	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACAAAAATGAAAATTTACAA	0.328													-	178309869	A	-	178309869	7	5	131	1	0	1	0	1	0	0	0	0	17862	246	9	0	430	0	ZNF354B	5	178309869	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	1369511	178309869	2605391	642	76817											
ZFP2	80108	broad.mit.edu	37	chr5	178359024	178359024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcatcagagaactcataCaggagaaaaaccctatgaat	7	8	3	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:178359024C>T	uc003mjn.1	+	5	1219	c.710C>T	c.(709-711)ACA>ATA	p.T237I	ZFP2_uc010jky.2_Missense_Mutation_p.T237I|ZFP2_uc010jkx.1_Missense_Mutation_p.T237I	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		AGAACTCATACAGGAGAAAAA	0.373													T	178359024	C	T	178359024	3	4	131	1	0	0	0	0	1	0	0	0	17638	478	17	4	712	4	ZFP2	5	178359024	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	49155	178359024	2556236	643	76818											
ZNF354C	30832	broad.mit.edu	37	chr5	178506224	178506224	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcccttctttctcatcagaGaattcatactggagagaaac	6	10	4	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:178506224G>T	uc003mju.2	+	5	906	c.791G>T	c.(790-792)AGA>ATA	p.R264I		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	264	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCTCATCAGAGAATTCATACT	0.388													T	178506224	G	T	178506224	3	4	131	1	0	0	0	0	1	0	0	0	17863	942	33	5	805	5	ZNF354C	5	178506224	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	147200	178506224	2409036	644	76819											
ADAMTS2	9509	broad.mit.edu	37	chr5	178563003	178563003	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatggacaccacctccccGgtctccctggactcgcagta	8	17	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:178563003G>A	uc003mjw.2	-	13	1992	c.1992C>T	c.(1990-1992)ACC>ACT	p.T664T		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	664	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCACCTCCCCGGTCTCCCTGG	0.627													A	178563003	G	A	178563003	2	1	131	1	0	0	0	0	0	0	0	1	265	1103	39	1		1	ADAMTS2	5	178563003	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	56779	178563003	2352257	645	76820											
MAML1	9794	broad.mit.edu	37	chr5	179201504	179201504	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaggcccatggctcccAtgagctcagcagctgccgtg	11	16	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:179201504A>G	uc003mkm.2	+	5	2940	c.2677A>G	c.(2677-2679)ATG>GTG	p.M893V	MAML1_uc003mkn.1_Intron	NM_014757	NP_055572	Q92585	MAML1_HUMAN	mastermind-like 1	893					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			lung(4)|ovary(2)	6	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATGGCTCCCATGAGCTCAGC	0.637													G	179201504	A	G	179201504	3	3	131	1	0	0	0	0	1	0	0	0	9205	217	8	3	2695	3	MAML1	5	179201504	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	638501	179201504	1713756	646	76821											
TRIM41	90933	broad.mit.edu	37	chr5	180661180	180661180	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctccctcccaagtggaccTgacgctggaccctgacacgg	10	18	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:180661180T>G	uc003mne.1	+	6	1992	c.1298T>G	c.(1297-1299)CTG>CGG	p.L433R	TRIM41_uc003mnc.1_3'UTR|TRIM41_uc003mnd.1_Missense_Mutation_p.L433R|TRIM41_uc003mnf.1_RNA|TRIM41_uc003mng.1_Missense_Mutation_p.L13R	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	tripartite motif-containing 41 isoform 1	433	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding				0	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAGTGGACCTGACGCTGGAC	0.667													G	180661180	T	G	180661180	3	3	131	1	0	0	0	0	1	0	0	0	16513	1580	55	5	1320	5	TRIM41	5	180661180	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1459676	180661180	254080	647	76822											
TRIM52	84851	broad.mit.edu	37	chr5	180687359	180687361	+	In_Frame_Del	DEL	TTC	TTC	-													tcatcgtatgcttccagtatTtcttcttctcggtagacatc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr5:180687359_180687361delTTC	uc003mnp.2	-	1	759_761	c.454_456delGAA	c.(454-456)GAAdel	p.E152del	uc003mnq.2_5'Flank	NM_032765	NP_116154	Q96A61	TRI52_HUMAN	tripartite motif-containing 52	152	Glu-rich.					intracellular	zinc ion binding				0	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		CTTCCAGTATTTCTTCTTCTCGG	0.507													-	180687361	TTC	-	180687359	7	5	131	1	0	1	0	1	0	0	0	0	16524	1838	64	0	445	0	TRIM52	5	180687359	In_Frame_Del	DEL	TTC	TCGA-BR-A4QL-01A-31D-A25D-08	26179	180687359	227901	648	76823											
DUSP22	56940	broad.mit.edu	37	chr6	335143	335143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgtgcatcccagcagcGgattcaccatctcaaaacct	6	15	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:335143G>A	uc003msx.2	+	4	607	c.168G>A	c.(166-168)GCG>GCA	p.A56A	DUSP22_uc011dhn.1_Silent_p.A56A|DUSP22_uc003msy.1_Silent_p.A13A	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	56					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TCCCAGCAGCGGATTCACCAT	0.318													A	335143	G	A	335143	2	1	131	1	0	0	0	0	0	0	0	1	4821	1103	39	1		1	DUSP22	6	335143	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08		335143	170779924	649	76824											
DUSP22	56940	broad.mit.edu	37	chr6	345898	345898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaattcattcacgagtgccGgctccgcggtgagagctgcc	12	12	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:345898G>A	uc003msx.2	+	5	672	c.233G>A	c.(232-234)CGG>CAG	p.R78Q	DUSP22_uc011dhn.1_Missense_Mutation_p.R78Q|DUSP22_uc003msy.1_Missense_Mutation_p.R35Q	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	78	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CACGAGTGCCGGCTCCGCGGT	0.423													A	345898	G	A	345898	3	1	131	1	0	0	0	0	1	0	0	0	4821	1116	39	1	251	1	DUSP22	6	345898	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	10755	345898	170769169	650	76825											
FAM50B	26240	broad.mit.edu	37	chr6	3850382	3850382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggagcagcggcgcgagCgcaagcgtaagatctcctgc	15	12	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:3850382C>T	uc003mvu.2	+	2	449	c.337C>T	c.(337-339)CGC>TGC	p.R113C		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	113						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				gcggcGCGAGCGCAAGCGTAA	0.532													T	3850382	C	T	3850382	3	4	131	1	0	0	0	0	1	0	0	0	5578	768	27	1	339	1	FAM50B	6	3850382	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3504484	3850382	167264685	651	76826											
PRPF4B	8899	broad.mit.edu	37	chr6	4032686	4032687	+	Frame_Shift_Ins	INS	-	-	A													aggtcacggtccaaagagagINSaaaatcaaaacggtctgaaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:4032686_4032687insA	uc003mvv.2	+	2	1026_1027	c.935_936insA	c.(934-936)AGAfs	p.R312fs	PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	312	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TCCAAAGAGAGAAAATCAAAAC	0.386													A	4032687	-	A	4032686	7	5	131	1	0	1	1	0	0	0	0	0	12573	942	33	0	941	0	PRPF4B	6	4032686	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	182304	4032686	167082381	652	76827	358	2									
PRPF4B	8899	broad.mit.edu	37	chr6	4032687	4032688	+	Frame_Shift_Ins	INS	-	-	A													ggtcacggtccaaagagagaINSaaatcaaaacggtctgaaac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:4032686_4032687G>GA	uc003mvv.3	+	1	1026_1027	c.935_936G>GA	c.(934-936)agafs	p.R312fs	PRPF4B_uc011dhv.1_Non-coding_Transcript	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA.	312	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TCCAAAGAGAGAAAATCAAAAC	0.386													A	4032688	-	A	4032687	7	5	131	1	0	1	1	0	0	0	0	0	12573	243	9	0	942	0	PRPF4B	6	4032687	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	4032687	167082380	653	76828	358	2									
DSP	1832	broad.mit.edu	37	chr6	7565711	7565711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgctgtacgactggagCgacaagaacaccaacatcgc	11	12	0	1	rs121912992		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:7565711C>T	uc003mxp.1	+	7	1176	c.897C>T	c.(895-897)AGC>AGT	p.S299S	DSP_uc003mxq.1_Silent_p.S299S	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	299	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		S -> R (in ARVD8).		cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACGACTGGAGCGACAAGAACA	0.547													T	7565711	C	T	7565711	2	4	131	1	0	0	0	0	0	0	0	1	4781	767	27	1		1	DSP	6	7565711	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3533024	7565711	163549356	654	76829											
DSP	1832	broad.mit.edu	37	chr6	7578041	7578041	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccagctggcctcatacacCtcaggactggaaactctgct	8	15	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:7578041C>A	uc003mxp.1	+	21	3186	c.2907C>A	c.(2905-2907)ACC>ACA	p.T969T	DSP_uc003mxq.1_Silent_p.T969T	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	969	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCTCATACACCTCAGGACTGG	0.428													A	7578041	C	A	7578041	2	1	131	1	0	0	0	0	0	0	0	1	4781	668	24	5		5	DSP	6	7578041	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	12330	7578041	163537026	655	76830											
SNRNP48	154007	broad.mit.edu	37	chr6	7609096	7609096	+	Frame_Shift_Del	DEL	A	A	-													tagtcataaaagaagaaagcAaaaaatataaatgaagtact							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:7609096delA	uc003mxr.2	+	9	1069	c.1010delA	c.(1009-1011)CAAfs	p.Q337fs	SNRNP48_uc003mxs.2_RNA	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	U11/U12 snRNP 48K	337					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding				0						AGAAGAAAGCAAAAAATATAA	0.289													-	7609096	A	-	7609096	7	5	131	1	0	1	0	1	0	0	0	0	14857	130	5	0	1044	0	SNRNP48	6	7609096	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	31055	7609096	163505971	656	76831											
SYCP2L	221711	broad.mit.edu	37	chr6	10956452	10956453	+	Frame_Shift_Del	DEL	AA	AA	-													caacctttgaaaacttcactAaaaaacggaaaagaaaatat							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:10956451_10956452TAA>T	uc003mzo.3	+	24	2435_2436	c.2139_2140TAA>T	c.(2137-2142)actaaafs	p.T713fs	SYCP2L_uc010jow.3_Frame_Shift_Del_p.T333fs	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	713						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AAAACTTCACTAAAAAACGGAA	0.371													-	10956453	AA	-	10956452	7	5	131	1	0	1	0	1	0	0	0	0	15430	363	13	0	2238	0	SYCP2L	6	10956452	Frame_Shift_Del	DEL	AA	TCGA-BR-A4QL-01A-31D-A25D-08	3347356	10956452	160158615	657	76832											
HIVEP1	3096	broad.mit.edu	37	chr6	12089463	12089463	+	Frame_Shift_Del	DEL	A	A	-													cttaatggggcagaagtttcAaaaaaaggtaaattaaaatc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:12089463delA	uc003nac.2	+	3	266	c.87delA	c.(85-87)TCAfs	p.S29fs		NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	29					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAGAAGTTTCAAAAAAAGGTA	0.259													-	12089463	A	-	12089463	7	5	131	1	0	1	0	1	0	0	0	0	7186	117	5	0	93	0	HIVEP1	6	12089463	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	1133011	12089463	159025604	658	76833											
PHACTR1	221692	broad.mit.edu	37	chr6	13206135	13206135	+	Frame_Shift_Del	DEL	G	G	-													gtcatgatctgtatgcccgtGggggggccagacctctcact							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:13206135delG	uc010jpc.2	+	8	1085	c.753delG	c.(751-753)GTGfs	p.V251fs	PHACTR1_uc011dir.1_Frame_Shift_Del_p.V320fs|PHACTR1_uc003nag.1_Frame_Shift_Del_p.V251fs|PHACTR1_uc003nah.1_Frame_Shift_Del_p.V251fs	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity				0	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GTATGCCCGTGGGGGGGCCAG	0.597													-	13206135	G	-	13206135	7	5	131	1	0	1	0	1	0	0	0	0	11809	1335	47	0	775	0	PHACTR1	6	13206135	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	1116672	13206135	157908932	659	76834											
CCDC90A	63933	broad.mit.edu	37	chr6	13801587	13801587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatatcctttttcacattcGcaatctgagacattacttgc	4	11	3	1	rs145895773		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:13801587G>A	uc003nbd.2	-	4	802	c.674C>T	c.(673-675)GCG>GTG	p.A225V	CCDC90A_uc010jpf.2_RNA	NM_001031713	NP_001026883	Q96AQ8	CC90A_HUMAN	coiled-coil domain containing 90A precursor	225						integral to membrane|mitochondrion					0	Breast(50;0.0027)|Ovarian(93;0.0964)	all_hematologic(90;0.117)				TTTCACATTCGCAATCTGAGA	0.358													A	13801587	G	A	13801587	3	1	131	1	0	0	0	0	1	0	0	0	2868	1087	38	1	429	1	CCDC90A	6	13801587	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	595452	13801587	157313480	660	76835											
RBM24	221662	broad.mit.edu	37	chr6	17292117	17292117	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggagctgcatacgcacaaTactcagcagctgctgctgct	10	13	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:17292117T>C	uc003nbz.3	+	4	482	c.478T>C	c.(478-480)TAC>CAC	p.Y160H	RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Missense_Mutation_p.Y102H|RBM24_uc003nca.2_Missense_Mutation_p.Y115H|RBM24_uc011diy.1_Silent_p.N73N|RBM24_uc011diz.1_Silent_p.N58N	NM_001143942	NP_001137414	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24 isoform 1	160	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			ovary(1)|skin(1)	2	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			ATACGCACAATACTCAGCAgc	0.478													C	17292117	T	C	17292117	3	2	131	1	0	0	0	0	1	0	0	0	13124	1406	49	3	525	3	RBM24	6	17292117	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	3490530	17292117	153822950	661	76836											
MRS2	57380	broad.mit.edu	37	chr6	24412566	24412566	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgtctggagagggtcaactCgttacataccctttaccttt	8	10	2	1	rs148187811		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:24412566C>T	uc003neb.2	+	5	653	c.531C>T	c.(529-531)CTC>CTT	p.L177L	MRS2_uc003nea.2_Silent_p.L177L|MRS2_uc011djl.1_Silent_p.L180L|MRS2_uc011djm.1_RNA|MRS2_uc011djn.1_Silent_p.L127L|MRS2_uc003nec.2_Silent_p.L54L	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN	MRS2-like, magnesium homeostasis factor	177	Mitochondrial matrix (Potential).				ion transport	integral to membrane|mitochondrial inner membrane					0						AGGGTCAACTCGTTACATACC	0.383													T	24412566	C	T	24412566	2	4	131	1	0	0	0	0	0	0	0	1	9851	871	31	1		1	MRS2	6	24412566	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	7120449	24412566	146702501	662	76837											
LRRC16A	55604	broad.mit.edu	37	chr6	25606376	25606376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagaacccaaagcggaagCaggctccaggtctcggagct	13	12	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:25606376C>T	uc011djw.1	+	35	4098	c.3722C>T	c.(3721-3723)GCA>GTA	p.A1241V	LRRC16A_uc010jpx.2_Missense_Mutation_p.A1196V|LRRC16A_uc010jpy.2_Missense_Mutation_p.A1235V	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1241					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						AAAGCGGAAGCAGGCTCCAGG	0.567													T	25606376	C	T	25606376	3	4	131	1	0	0	0	0	1	0	0	0	8971	710	25	2	3860	2	LRRC16A	6	25606376	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1193810	25606376	145508691	663	76838											
SLC17A3	10786	broad.mit.edu	37	chr6	25845699	25845699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtagtcctaacaggttaaCggcaaacagcaagaagaaga	11	7	0	3	rs114720409	by1000genomes	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:25845699C>T	uc003nfi.3	-	11	1284	c.1174G>A	c.(1174-1176)GTT>ATT	p.V392I	SLC17A3_uc003nfk.3_Missense_Mutation_p.V470I	NM_006632	NP_006623	O00476	NPT4_HUMAN	solute carrier family 17 (sodium phosphate),	392	Helical; (Potential).				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity				0						AACAGGTTAACGGCAAACAGC	0.413													T	25845699	C	T	25845699	3	4	131	1	0	0	0	0	1	0	0	0	14418	536	19	1	92	1	SLC17A3	6	25845699	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	239323	25845699	145269368	664	76839											
HIST1H1T	3010	broad.mit.edu	37	chr6	26108248	26108248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccagccggcttcctccctCgcttcttggttggaagtttc	10	14	1	0	rs142806773		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:26108248C>T	uc003ngj.2	-	1	117	c.74G>A	c.(73-75)CGA>CAA	p.R25Q		NM_005323	NP_005314	P22492	H1T_HUMAN	histone cluster 1, H1t	25					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			ovary(2)	2						CTTCCTCCCTCGCTTCTTGGT	0.517													T	26108248	C	T	26108248	3	4	131	1	0	0	0	0	1	0	0	0	7127	884	31	1	553	1	HIST1H1T	6	26108248	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	262549	26108248	145006819	665	76840											
HIST1H1T	3010	broad.mit.edu	37	chr6	26108309	26108309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggcagaagctgcaggcaCggtttcagacataacaacag	11	10	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:26108309C>T	uc003ngj.2	-	1	56	c.13G>A	c.(13-15)GTG>ATG	p.V5M		NM_005323	NP_005314	P22492	H1T_HUMAN	histone cluster 1, H1t	5					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			ovary(2)	2						GCTGCAGGCACGGTTTCAGAC	0.542													T	26108309	C	T	26108309	3	4	131	1	0	0	0	0	1	0	0	0	7127	536	19	1	614	1	HIST1H1T	6	26108309	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	61	26108309	145006758	666	76841											
MRPS18B	28973	broad.mit.edu	37	chr6	30590656	30590656	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcgcccacacgggtatcatCttctatgctccatacacagg	8	14	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:30590656C>A	uc003nqo.2	+	5	559	c.402C>A	c.(400-402)ATC>ATA	p.I134I	MRPS18B_uc011dml.1_Intron|MRPS18B_uc010jsd.1_Silent_p.I111I	NM_014046	NP_054765	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B precursor	134					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			ovary(1)	1						CGGGTATCATCTTCTATGCTC	0.498													A	30590656	C	A	30590656	2	1	131	1	0	0	0	0	0	0	0	1	9829	903	32	5		5	MRPS18B	6	30590656	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4482347	30590656	140524411	667	76842											
DDR1	780	broad.mit.edu	37	chr6	30860096	30860096	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgtaacaacatgcacacGctgggagcccgtctgcctgg	11	14	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:30860096G>A	uc003nrr.2	+	9	1135	c.876G>A	c.(874-876)ACG>ACA	p.T292T	DDR1_uc010jse.2_Silent_p.T292T|DDR1_uc003nrq.2_Silent_p.T292T|DDR1_uc003nrs.2_Silent_p.T292T|DDR1_uc003nrt.2_Silent_p.T292T|DDR1_uc011dms.1_Silent_p.T310T|DDR1_uc003nru.2_Silent_p.T292T|DDR1_uc003nrv.2_Silent_p.T292T|DDR1_uc003nrw.1_Silent_p.T91T|DDR1_uc003nry.1_5'Flank|DDR1_uc003nrx.1_5'Flank	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	292	Extracellular (Potential).				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	ACATGCACACGCTGGGAGCCC	0.672													A	30860096	G	A	30860096	2	1	131	1	0	0	0	0	0	0	0	1	4336	1074	38	1		1	DDR1	6	30860096	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	269440	30860096	140254971	668	76843											
VARS2	57176	broad.mit.edu	37	chr6	30883960	30883960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacaactgtggaaggaacGgggagtgaggagacatgagc	17	5	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:30883960G>A	uc003nsc.1	+	6	1237	c.605G>A	c.(604-606)CGG>CAG	p.R202Q	VARS2_uc003nsd.2_Missense_Mutation_p.R202Q|VARS2_uc011dmx.1_Missense_Mutation_p.R202Q|VARS2_uc011dmy.1_Missense_Mutation_p.R62Q|VARS2_uc011dmz.1_Missense_Mutation_p.R232Q|VARS2_uc011dna.1_Missense_Mutation_p.R202Q|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'Flank	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	202					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						TGGAAGGAACGGGGAGTGAGG	0.562													A	30883960	G	A	30883960	3	1	131	1	0	0	0	0	1	0	0	0	17121	1116	39	1	721	1	VARS2	6	30883960	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	23864	30883960	140231107	669	76844											
DPCR1	135656	broad.mit.edu	37	chr6	30920773	30920773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatatgatgcggacacgccGcacactaacccagaacaccc	7	16	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:30920773G>A	uc003nsg.2	+	3	4061	c.4061G>A	c.(4060-4062)CGC>CAC	p.R1354H		NM_080870	NP_543146	Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	478	Cytoplasmic (Potential).					integral to membrane					0						CGGACACGCCGCACACTAACC	0.517													A	30920773	G	A	30920773	3	1	131	1	0	0	0	0	1	0	0	0	4712	1087	38	1	4071	1	DPCR1	6	30920773	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	36813	30920773	140194294	670	76845											
TCF19	6941	broad.mit.edu	37	chr6	31127312	31127312	+	Frame_Shift_Del	DEL	C	C	-													ggtgatctctacaccttccaCccccccgccggggctggctg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:31127312delC	uc003nss.2	+	2	590	c.66delC	c.(64-66)CACfs	p.H22fs	CCHCR1_uc011dne.1_5'Flank|CCHCR1_uc003nsq.3_5'Flank|CCHCR1_uc003nsp.3_5'Flank|CCHCR1_uc003nsr.3_5'Flank|CCHCR1_uc010jsk.1_5'Flank|TCF19_uc003nst.2_Frame_Shift_Del_p.H22fs	NM_001077511	NP_001070979	Q9Y242	TCF19_HUMAN	transcription factor 19	22					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ACACCTTCCACCCCCCCGCCG	0.687													-	31127312	C	-	31127312	7	5	131	1	0	1	0	1	0	0	0	0	15686	506	18	0	68	0	TCF19	6	31127312	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	206539	31127312	139987755	671	76846											
NFKBIL1	4795	broad.mit.edu	37	chr6	31526079	31526079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacccaagccaaccagggcCgggcccagggaagagcaccc	13	16	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:31526079C>T	uc003nub.2	+	4	956	c.837C>T	c.(835-837)GCC>GCT	p.A279A	NFKBIL1_uc011dnr.1_Silent_p.A241A|NFKBIL1_uc011dns.1_Silent_p.A256A|NFKBIL1_uc011dnt.1_RNA|NFKBIL1_uc003nuc.2_Silent_p.A264A	NM_005007	NP_004998	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene	279					cytoplasmic sequestering of transcription factor		protein binding				0						CAACCAGGGCCGGGCCCAGGG	0.706													T	31526079	C	T	31526079	2	4	131	1	0	0	0	0	0	0	0	1	10381	639	23	1		1	NFKBIL1	6	31526079	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	398767	31526079	139588988	672	76847											
BAT3	7917	broad.mit.edu	37	chr6	31619438	31619438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaggtgtctcacctgggCccccacaataaaggtacgag	12	11	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:31619438C>T	uc003nvg.3	-	2	417	c.103G>A	c.(103-105)GCC>ACC	p.A35T	BAT3_uc003nvf.3_Missense_Mutation_p.A35T|BAT3_uc003nvh.3_Missense_Mutation_p.A35T|BAT3_uc003nvi.3_Missense_Mutation_p.A35T|BAT3_uc011dnw.1_Missense_Mutation_p.A35T|BAT3_uc011dnx.1_Missense_Mutation_p.A35T|BAT3_uc003nvj.1_Missense_Mutation_p.A35T|APOM_uc003nvk.2_5'Flank	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	35	Ubiquitin-like.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0						CTCACCTGGGCCCCCACAATA	0.507													T	31619438	C	T	31619438	3	4	131	1	0	0	0	0	1	0	0	0	1322	739	26	2	3391	2	BAT3	6	31619438	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	93359	31619438	139495629	673	76848											
MSH5	4439	broad.mit.edu	37	chr6	31715180	31715180	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaggaatcctcaacagatgCcactgtaagtggggagagaa	12	8	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:31715180C>A	uc003nwv.1	+	10	862	c.783C>A	c.(781-783)TGC>TGA	p.C261*	MSH5_uc003nwt.1_Nonsense_Mutation_p.C278*|MSH5_uc003nwu.1_Nonsense_Mutation_p.C261*|MSH5_uc003nww.1_Nonsense_Mutation_p.C261*|MSH5_uc003nwx.1_Nonsense_Mutation_p.C278*|MSH5_uc011dof.1_5'UTR	NM_172166	NP_751898	O43196	MSH5_HUMAN	mutS homolog 5 isoform c	261					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3						TCAACAGATGCCACTGTAAGT	0.473								Direct_reversal_of_damage|MMR					A	31715180	C	A	31715180	4	1	131	1	0	0	0	0	0	1	0	0	9873	747	26	5	868	5	MSH5	6	31715180	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	95742	31715180	139399887	674	76849											
TNXB	7148	broad.mit.edu	37	chr6	32035444	32035444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcacactcacccgtgaCgcccacagcagacactgggc	10	17	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:32035444C>T	uc003nzl.2	-	18	6740	c.6538G>A	c.(6538-6540)GTC>ATC	p.V2180I		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2252					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						TCACCCGTGACGCCCACAGCA	0.637													T	32035444	C	T	32035444	3	4	131	1	0	0	0	0	1	0	0	0	16343	536	19	1	8283	1	TNXB	6	32035444	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	320264	32035444	139079623	675	76850											
TNXB	7148	broad.mit.edu	37	chr6	32063940	32063940	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggcactggccgcggcctcGgcagcccccggggcagctgc	16	17	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:32063940G>A	uc003nzl.2	-	3	1892	c.1690C>T	c.(1690-1692)CGA>TGA	p.R564*		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	564	EGF-like 14.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CCGCGGCCTCGGCAGCCCCCG	0.682													A	32063940	G	A	32063940	4	1	131	1	0	0	0	0	0	1	0	0	16343	1124	39	1	13191	1	TNXB	6	32063940	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	28496	32063940	139051127	676	76851											
NOTCH4	4855	broad.mit.edu	37	chr6	32172014	32172014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtccagacactcgtccacGtctccctcacagcgtagccc	8	18	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:32172014G>A	uc003obb.2	-	19	3157	c.3018C>T	c.(3016-3018)GAC>GAT	p.D1006D	NOTCH4_uc003oba.2_5'Flank|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1006	Extracellular (Potential).|EGF-like 26.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						ACTCGTCCACGTCTCCCTCAC	0.607													A	32172014	G	A	32172014	2	1	131	1	0	0	0	0	0	0	0	1	10551	1136	40	1		1	NOTCH4	6	32172014	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	108074	32172014	138943053	677	76852											
HLA-DRA	3122	broad.mit.edu	37	chr6	32407731	32407731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgcccaagaagaaaatgGccataagtggagtccctgtg	13	9	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:32407731G>A	uc003obh.2	+	1	85	c.4G>A	c.(4-6)GCC>ACC	p.A2T	HLA-DRA_uc003obi.2_Missense_Mutation_p.A2T	NM_019111	NP_061984	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR	2					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			ovary(1)|skin(1)	2						GAAGAAAATGGCCATAAGTGG	0.468									T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of				A	32407731	G	A	32407731	3	1	131	1	0	0	0	0	1	0	0	0	7207	1203	42	2	6	2	HLA-DRA	6	32407731	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	235717	32407731	138707336	678	76853											
ITPR3	3710	broad.mit.edu	37	chr6	33634933	33634933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattctgaaggccccgttcCgtgagaaggggggtgaaggt	17	8	1	3	rs139434169	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:33634933C>T	uc011drk.1	+	15	1798	c.1579C>T	c.(1579-1581)CGT>TGT	p.R527C		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	527	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						GGCCCCGTTCCGTGAGAAGGG	0.592													T	33634933	C	T	33634933	3	4	131	1	0	0	0	0	1	0	0	0	7922	652	23	1	1637	1	ITPR3	6	33634933	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1227202	33634933	137480134	679	76854											
ITPR3	3710	broad.mit.edu	37	chr6	33653503	33653503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgggggcacgaggtgagcGaacgtgtgcagagcagtgag	20	8	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:33653503G>A	uc011drk.1	+	41	5785	c.5566G>A	c.(5566-5568)GAA>AAA	p.E1856K	ITPR3_uc003oey.2_5'Flank	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1856	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CGAGGTGAGCGAACGTGTGCA	0.652													A	33653503	G	A	33653503	3	1	131	1	0	0	0	0	1	0	0	0	7922	1059	37	1	5728	1	ITPR3	6	33653503	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	18570	33653503	137461564	680	76855											
GRM4	2914	broad.mit.edu	37	chr6	34059859	34059859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtctggcgctgtggaggcGtagctgatctggggtatctg	18	7	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:34059859G>A	uc003oir.3	-	2	707	c.537C>T	c.(535-537)TAC>TAT	p.Y179Y	GRM4_uc011dsn.1_Silent_p.Y179Y|GRM4_uc010jvh.2_Silent_p.Y179Y|GRM4_uc010jvi.2_Intron|GRM4_uc010jvk.1_Silent_p.Y98Y|GRM4_uc011dsl.1_Silent_p.Y39Y|GRM4_uc003oiq.2_Silent_p.Y46Y|GRM4_uc011dsm.1_Silent_p.Y10Y	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	179	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	CTGTGGAGGCGTAGCTGATCT	0.652													A	34059859	G	A	34059859	2	1	131	1	0	0	0	0	0	0	0	1	6799	1140	40	1		1	GRM4	6	34059859	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	406356	34059859	137055208	681	76856											
GRM4	2914	broad.mit.edu	37	chr6	34100766	34100766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcactgaccttgaagaggcGaaggatgttggccaccatga	14	9	0	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:34100766G>A	uc003oir.3	-	1	678	c.508C>T	c.(508-510)CGC>TGC	p.R170C	GRM4_uc011dsn.1_Missense_Mutation_p.R170C|GRM4_uc010jvh.2_Missense_Mutation_p.R170C|GRM4_uc010jvi.2_5'UTR|GRM4_uc010jvk.1_Missense_Mutation_p.R89C	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	170	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	TTGAAGAGGCGAAGGATGTTG	0.637													A	34100766	G	A	34100766	3	1	131	1	0	0	0	0	1	0	0	0	6799	1058	37	1	2270	1	GRM4	6	34100766	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	40907	34100766	137014301	682	76857											
SCUBE3	222663	broad.mit.edu	37	chr6	35214016	35214016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctggtagaagacattgtgcGagatggccggctctatgcct	14	9	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:35214016G>A	uc003okf.1	+	21	2792	c.2786G>A	c.(2785-2787)CGA>CAA	p.R929Q	SCUBE3_uc003okg.1_Missense_Mutation_p.R928Q|SCUBE3_uc003okh.1_Missense_Mutation_p.R816Q	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	929					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						GACATTGTGCGAGATGGCCGG	0.418													A	35214016	G	A	35214016	3	1	131	1	0	0	0	0	1	0	0	0	13946	1058	37	1	2868	1	SCUBE3	6	35214016	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1113250	35214016	135901051	683	76858											
PPARD	5467	broad.mit.edu	37	chr6	35392205	35392205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccctacaaggagatcagcGtgcacgtcttctaccgctgc	9	15	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:35392205G>A	uc003okm.2	+	7	1036	c.727G>A	c.(727-729)GTG>ATG	p.V243M	PPARD_uc003okl.2_Missense_Mutation_p.V243M|PPARD_uc003okn.2_Missense_Mutation_p.V243M|PPARD_uc011dtb.1_Missense_Mutation_p.V204M|PPARD_uc011dtc.1_Missense_Mutation_p.V145M	NM_006238	NP_006229	Q03181	PPARD_HUMAN	peroxisome proliferative activated receptor,	243					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GGAGATCAGCGTGCACGTCTT	0.587													A	35392205	G	A	35392205	3	1	131	1	0	0	0	0	1	0	0	0	12298	1145	40	1	762	1	PPARD	6	35392205	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	178189	35392205	135722862	684	76859											
C6orf81	221481	broad.mit.edu	37	chr6	35704936	35704936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactggacatccgcaaaagCgtagtcagcctggccacagg	11	13	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:35704936C>T	uc003ola.2	+	1	78	c.51C>T	c.(49-51)AGC>AGT	p.S17S	LOC285847_uc010jvy.1_5'Flank|C6orf81_uc003olb.1_Silent_p.S17S	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	hypothetical protein LOC221481	17							binding			ovary(1)	1						TCCGCAAAAGCGTAGTCAGCC	0.592											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	35704936	C	T	35704936	2	4	131	1	0	0	0	0	0	0	0	1	2372	767	27	1		1	C6orf81	6	35704936	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	312731	35704936	135410131	685	76860											
KCTD20	222658	broad.mit.edu	37	chr6	36442765	36442765	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcaccagagaaagtgacGcttcttgtagatggcacacg	11	10	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:36442765G>A	uc003ome.2	+	3	751	c.360G>A	c.(358-360)ACG>ACA	p.T120T	KCTD20_uc011dtm.1_Intron|KCTD20_uc011dtn.1_Intron|KCTD20_uc010jwk.2_Intron|KCTD20_uc011dto.1_Intron	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerisation domain	120	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)	2						AGAAAGTGACGCTTCTTGTAG	0.423													A	36442765	G	A	36442765	2	1	131	1	0	0	0	0	0	0	0	1	8108	1074	38	1		1	KCTD20	6	36442765	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	737829	36442765	134672302	686	76861											
CPNE5	57699	broad.mit.edu	37	chr6	36710078	36710078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggggggacgcagggggCgtgcgggctggggactgcga	24	8	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:36710078C>T	uc003omr.1	-	21	1816	c.1749G>A	c.(1747-1749)ACG>ACA	p.T583T	CPNE5_uc003omp.1_Silent_p.T291T|CPNE5_uc010jwn.1_Silent_p.T233T|CPNE5_uc003omq.1_Silent_p.T233T	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	copine V	583										skin(1)	1						ACGCAGGGGGCGTGCGGGCTG	0.692													T	36710078	C	T	36710078	2	4	131	1	0	0	0	0	0	0	0	1	3815	755	27	1		1	CPNE5	6	36710078	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	267313	36710078	134404989	687	76862											
ZFAND3	60685	broad.mit.edu	37	chr6	38120035	38120035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgttctgtatgttacatcGcctccccgagcagcacgact	9	13	1	0	rs112599440		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:38120035G>A	uc003onx.2	+	6	969	c.554G>A	c.(553-555)CGC>CAC	p.R185H		NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	185	AN1-type.						DNA binding|zinc ion binding			ovary(1)	1						ATGTTACATCGCCTCCCCGAG	0.572													A	38120035	G	A	38120035	3	1	131	1	0	0	0	0	1	0	0	0	17626	1087	38	1	576	1	ZFAND3	6	38120035	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1409957	38120035	132995032	688	76863											
BTBD9	114781	broad.mit.edu	37	chr6	38548022	38548022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtcccacaagagtatccGtatgtgattgataatggatg	11	7	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:38548022G>A	uc003ooa.3	-	6	1582	c.1006C>T	c.(1006-1008)CGG>TGG	p.R336W	BTBD9_uc003ony.3_Missense_Mutation_p.R268W|BTBD9_uc010jwv.2_Missense_Mutation_p.R268W|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.R336W	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9 isoform a	336					cell adhesion						0						AAGAGTATCCGTATGTGATTG	0.418													A	38548022	G	A	38548022	3	1	131	1	0	0	0	0	1	0	0	0	1548	1144	40	1	951	1	BTBD9	6	38548022	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	427987	38548022	132567045	689	76864											
GLO1	2739	broad.mit.edu	37	chr6	38654677	38654677	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acttgacttacgtcattccaAgaactctagtataaaaatcc	4	10	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:38654677A>T	uc003ooc.2	-	2	280	c.158T>A	c.(157-159)CTT>CAT	p.L53H		NM_006708	NP_006699	Q04760	LGUL_HUMAN	glyoxalase I	53					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			ovary(1)	1					Glutathione(DB00143)	CGTCATTCCAAGAACTCTAGT	0.328													T	38654677	A	T	38654677	3	4	131	1	0	0	0	0	1	0	0	0	6449	72	3	5	416	5	GLO1	6	38654677	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	106655	38654677	132460390	690	76865											
KCNK17	89822	broad.mit.edu	37	chr6	39267230	39267230	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgccacagcctgcagcGtgagcagaaggttccagatg	12	12	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:39267230G>A	uc003ooo.2	-	5	1112	c.972C>T	c.(970-972)CAC>CAT	p.H324H	KCNK17_uc003oop.2_3'UTR	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	324	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(2)	2						aGCCTGCAGCGTGAGCAGAAG	0.328													A	39267230	G	A	39267230	2	1	131	1	0	0	0	0	0	0	0	1	8064	1136	40	1		1	KCNK17	6	39267230	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	612553	39267230	131847837	691	76866											
KCNK17	89822	broad.mit.edu	37	chr6	39267459	39267459	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgccatcccaaagaggatcCacagggacaccatgttcttg	9	12	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:39267459C>A	uc003ooo.2	-	5	883	c.743G>T	c.(742-744)TGG>TTG	p.W248L	KCNK17_uc003oop.2_3'UTR	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	248	Helical; (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(2)	2						AAAGAGGATCCACAGGGACAC	0.572													A	39267459	C	A	39267459	3	1	131	1	0	0	0	0	1	0	0	0	8064	595	21	5	259	5	KCNK17	6	39267459	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	229	39267459	131847608	692	76867											
DAAM2	23500	broad.mit.edu	37	chr6	39856480	39856480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctttctaacgaggagatcCggcaggccatcttgaagatg	12	9	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:39856480C>T	uc003oow.2	+	17	2242	c.2086C>T	c.(2086-2088)CGG>TGG	p.R696W	DAAM2_uc003oox.2_Missense_Mutation_p.R696W|uc003ooz.1_5'Flank	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	696	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					CGAGGAGATCCGGCAGGCCAT	0.557													T	39856480	C	T	39856480	3	4	131	1	0	0	0	0	1	0	0	0	4216	643	23	1	2148	1	DAAM2	6	39856480	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	589021	39856480	131258587	693	76868											
UNC5CL	222643	broad.mit.edu	37	chr6	41002639	41002639	+	Frame_Shift_Del	DEL	G	G	-													tgagacctcattttctagttGgggggtaggctgggacactg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:41002639delG	uc003opi.2	-	2	264	c.175delC	c.(175-177)CAAfs	p.Q59fs	UNC5CL_uc010jxe.1_Frame_Shift_Del_p.Q59fs	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	unc-5 homolog C-like	59	Cytoplasmic (Potential).				signal transduction	cytoplasm|integral to membrane				ovary(2)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTTTCTAGTTGGGGGGTAGGC	0.582													-	41002639	G	-	41002639	7	5	131	1	0	1	0	1	0	0	0	0	16991	1357	47	0	1413	0	UNC5CL	6	41002639	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	1146159	41002639	130112428	694	76869											
TREM1	54210	broad.mit.edu	37	chr6	41250435	41250435	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatttcacatccagggtcTgcccctctttcagttcatac	5	15	5	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:41250435T>C	uc003oqf.1	-	2	168	c.104A>G	c.(103-105)CAG>CGG	p.Q35R	TREM1_uc003oqg.1_Missense_Mutation_p.Q35R	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	35	Extracellular (Potential).|Ig-like V-type.			Q -> K (in Ref. 3; AAL74018).	blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	ATCCAGGGTCTGCCCCTCTTT	0.458													C	41250435	T	C	41250435	3	2	131	1	0	0	0	0	1	0	0	0	16467	1580	55	3	612	3	TREM1	6	41250435	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	247796	41250435	129864632	695	76870											
TRERF1	55809	broad.mit.edu	37	chr6	42236784	42236784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctgagacagcagctggCggagagcactgtcaggggct	16	10	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:42236784C>T	uc003osd.2	-	5	1108	c.545G>A	c.(544-546)CGC>CAC	p.R182H	TRERF1_uc011duq.1_Missense_Mutation_p.R182H|TRERF1_uc003osb.2_Missense_Mutation_p.R21H|TRERF1_uc003osc.2_Missense_Mutation_p.R21H|TRERF1_uc003ose.2_Missense_Mutation_p.R182H	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	182					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGCAGCTGGCGGAGAGCACT	0.602													T	42236784	C	T	42236784	3	4	131	1	0	0	0	0	1	0	0	0	16472	768	27	1	3113	1	TRERF1	6	42236784	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	986349	42236784	128878283	696	76871											
UBR2	23304	broad.mit.edu	37	chr6	42585024	42585024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatggaggatgatcacgagcGagcagtgtcggtgactgctc	15	8	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:42585024G>A	uc011dur.1	+	11	1229	c.1229G>A	c.(1228-1230)CGA>CAA	p.R410Q	UBR2_uc011dus.1_Intron|UBR2_uc010jxv.1_5'UTR|UBR2_uc003osh.2_Intron|UBR2_uc003osf.2_Intron	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	410					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GATCACGAGCGAGCAGTGTCG	0.463													A	42585024	G	A	42585024	3	1	131	1	0	0	0	0	1	0	0	0	16899	1058	37	1	1271	1	UBR2	6	42585024	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	348240	42585024	128530043	697	76872											
PRPH2	5961	broad.mit.edu	37	chr6	42689775	42689775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacagatagccaggtacgGcttcagccagggcttccatc	10	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:42689775G>A	uc003osk.2	-	1	584	c.298C>T	c.(298-300)CCG>TCG	p.P100S		NM_000322	NP_000313	P23942	PRPH2_HUMAN	peripherin 2	100	Helical; (Potential).				cell adhesion|visual perception	integral to membrane				ovary(4)|central_nervous_system(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GCCAGGTACGGCTTCAGCCAG	0.577													A	42689775	G	A	42689775	3	1	131	1	0	0	0	0	1	0	0	0	12577	1203	42	2	754	2	PRPH2	6	42689775	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	104751	42689775	128425292	698	76873											
CUL7	9820	broad.mit.edu	37	chr6	43018130	43018130	+	Frame_Shift_Del	DEL	A	A	-													ggtgcggcctgttgactcccAaaatacctggagcataggga							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:43018130delA	uc003otq.2	-	5	1543	c.1240delT	c.(1240-1242)TGGfs	p.W414fs	CUL7_uc011dvb.1_Frame_Shift_Del_p.W498fs|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	414	Interaction with TP53.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GTTGACTCCCAAAATACCTGG	0.532													-	43018130	A	-	43018130	7	5	131	1	0	1	0	1	0	0	0	0	4060	130	5	0	3944	0	CUL7	6	43018130	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	328355	43018130	128096937	699	76874											
CUL9	23113	broad.mit.edu	37	chr6	43153844	43153844	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggggacagcgggaactggAgttcagcatggctgtgggca	18	9	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:43153844A>G	uc003ouk.2	+	4	977	c.902A>G	c.(901-903)GAG>GGG	p.E301G	CUL9_uc003ouj.1_Missense_Mutation_p.E301G|CUL9_uc003oul.2_Missense_Mutation_p.E301G|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	301					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						CGGGAACTGGAGTTCAGCATG	0.612													G	43153844	A	G	43153844	3	3	131	1	0	0	0	0	1	0	0	0	4061	304	11	3	912	3	CUL9	6	43153844	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	135714	43153844	127961223	700	76875											
SLC22A7	10864	broad.mit.edu	37	chr6	43271815	43271815	+	Frame_Shift_Del	DEL	G	G	-													actgcactggtgggccggctGgggggctctttggccccact							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:43271815delG	uc003out.2	+	10	1524	c.1425delG	c.(1423-1425)CTGfs	p.L475fs	SLC22A7_uc003ous.2_Frame_Shift_Del_p.L473fs	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	solute carrier family 22 member 7 isoform b	475	Helical; (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity				0			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TGGGCCGGCTGGGGGGCTCTT	0.632													-	43271815	G	-	43271815	7	5	131	1	0	1	0	1	0	0	0	0	14459	1335	47	0	1459	0	SLC22A7	6	43271815	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	117971	43271815	127843252	701	76876											
ZNF318	24149	broad.mit.edu	37	chr6	43310528	43310528	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatactcataagcagcagtGggctgatccaactgcttagt	9	9	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:43310528G>A	uc003oux.2	-	7	3240	c.3162C>T	c.(3160-3162)CCC>CCT	p.P1054P	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1054					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AAGCAGCAGTGGGCTGATCCA	0.463													A	43310528	G	A	43310528	2	1	131	1	0	0	0	0	0	0	0	1	17833	1335	47	4		4	ZNF318	6	43310528	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	38713	43310528	127804539	702	76877											
AARS2	57505	broad.mit.edu	37	chr6	44272877	44272877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgctgcagctccccaagcGcatggacatcaagccacaat	10	15	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:44272877G>A	uc010jza.1	-	11	1496	c.1493C>T	c.(1492-1494)GCG>GTG	p.A498V	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	498					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CTCCCCAAGCGCATGGACATC	0.607											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	44272877	G	A	44272877	3	1	131	1	0	0	0	0	1	0	0	0	20	1087	38	1	1512	1	AARS2	6	44272877	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	962349	44272877	126842190	703	76878											
RUNX2	860	broad.mit.edu	37	chr6	45390581	45390581	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acgacaaccgcaccatggtgGagatcatcgccgaccacccg	10	16	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:45390581G>T	uc011dvx.1	+	3	520	c.310G>T	c.(310-312)GAG>TAG	p.E104*	RUNX2_uc011dvy.1_Nonsense_Mutation_p.E104*|RUNX2_uc003oxt.2_Nonsense_Mutation_p.E90*	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	runt-related transcription factor 2 isoform a	104	Runt.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3						CACCATGGTGGAGATCATCGC	0.488													T	45390581	G	T	45390581	4	4	131	1	0	0	0	0	0	1	0	0	13748	1175	41	5	332	5	RUNX2	6	45390581	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1117704	45390581	125724486	704	76879											
PLA2G7	7941	broad.mit.edu	37	chr6	46675819	46675820	+	Frame_Shift_Ins	INS	-	-	A													tggaaatattcagagttgatINSaaaaaagaggggctgaggaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:46675819_46675820insA	uc010jzf.2	-	10	1217_1218	c.948_949insT	c.(946-951)TTTATCfs	p.F316fs	PLA2G7_uc010jzg.1_Intron	NM_005084	NP_005075	Q13093	PAFA_HUMAN	phospholipase A2, group VII	316_317					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding				0			Lung(136;0.192)			TCAGAGTTGATAAAAAAGAGGG	0.347													A	46675820	-	A	46675819	7	5	131	1	0	1	1	0	0	0	0	0	12009	1406	49	0	388	0	PLA2G7	6	46675819	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1285238	46675819	124439248	705	76880	359	2									
PLA2G7	7941	broad.mit.edu	37	chr6	46675820	46675821	+	Frame_Shift_Ins	INS	-	-	A													ggaaatattcagagttgataINSaaaaagaggggctgaggaat							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:46675819_46675820T>TA	uc010jzf.3	-	9	1217_1218	c.948_949A>TA	c.(946-951)tttatcfs	p.F316fs	PLA2G7_uc021zae.1_Frame_Shift_Ins_p.F316fs	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA.	316					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TCAGAGTTGATAAAAAAGAGGG	0.347													A	46675821	-	A	46675820	7	5	131	1	0	1	1	0	0	0	0	0	12009	359	13	0	389	0	PLA2G7	6	46675820	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	46675820	124439247	706	76881	359	2									
PAQR8	85315	broad.mit.edu	37	chr6	52268150	52268150	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggatgtgccccagctcttcCgggagccttacatccgcacc	10	17	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:52268150C>A	uc003pao.3	+	2	313	c.139C>A	c.(139-141)CGG>AGG	p.R47R		NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member	47	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding				0	Lung NSC(77;0.0875)					CCAGCTCTTCCGGGAGCCTTA	0.622													A	52268150	C	A	52268150	2	1	131	1	0	0	0	0	0	0	0	1	11441	643	23	5		5	PAQR8	6	52268150	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	5592330	52268150	118846917	707	76882											
FBXO9	26268	broad.mit.edu	37	chr6	52957325	52957325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagagatgtttttagaacGgcctcgtgttcggtttgatg	14	5	0	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:52957325G>A	uc003pbo.2	+	8	833	c.782G>A	c.(781-783)CGG>CAG	p.R261Q	FBXO9_uc003pbk.2_Missense_Mutation_p.R217Q|FBXO9_uc003pbl.2_Missense_Mutation_p.R251Q|FBXO9_uc003pbm.2_Missense_Mutation_p.R141Q|FBXO9_uc003pbn.2_Missense_Mutation_p.R141Q	NM_012347	NP_036479	Q9UK97	FBX9_HUMAN	F-box only protein 9 isoform 1	261						ubiquitin ligase complex	ubiquitin-protein ligase activity			pancreas(1)	1	Lung NSC(77;0.103)					TTTTTAGAACGGCCTCGTGTT	0.413													A	52957325	G	A	52957325	3	1	131	1	0	0	0	0	1	0	0	0	5762	1116	39	1	815	1	FBXO9	6	52957325	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	689175	52957325	118157742	708	76883											
GCLC	2729	broad.mit.edu	37	chr6	53385602	53385602	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgaagttattgtgcaaagAgcctgattttcttctaatat	7	5	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:53385602A>C	uc003pbw.1	-	3	808	c.420T>G	c.(418-420)GCT>GCG	p.A140A	GCLC_uc003pbx.2_Silent_p.A140A	NM_001498	NP_001489	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	140					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			ovary(1)|central_nervous_system(1)	2	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	TTGTGCAAAGAGCCTGATTTT	0.453													C	53385602	A	C	53385602	2	2	131	1	0	0	0	0	0	0	0	1	6295	291	11	5		5	GCLC	6	53385602	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	428277	53385602	117729465	709	76884											
KIAA1586	57691	broad.mit.edu	37	chr6	56917539	56917539	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttttgcattttttaaatgTgaagaaggtgaaaacagaca	8	3	0	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:56917539T>C	uc003pdj.2	+	4	412	c.242T>C	c.(241-243)GTG>GCG	p.V81A	KIAA1586_uc011dxm.1_Missense_Mutation_p.V54A	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	hypothetical protein LOC57691	81							nucleic acid binding				0	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTTTTAAATGTGAAGAAGGTG	0.308													C	56917539	T	C	56917539	3	2	131	1	0	0	0	0	1	0	0	0	8245	1696	59	3	256	3	KIAA1586	6	56917539	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	3531937	56917539	114197528	710	76885											
ZNF451	26036	broad.mit.edu	37	chr6	57012049	57012049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaattcaggacacaaagtccGagtcattaactcagtggaag	10	8	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:57012049G>A	uc003pdm.1	+	10	1390	c.1166G>A	c.(1165-1167)CGA>CAA	p.R389Q	ZNF451_uc003pdl.2_Missense_Mutation_p.R389Q|ZNF451_uc003pdn.1_Missense_Mutation_p.R389Q|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.R389Q	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CACAAAGTCCGAGTCATTAAC	0.398													A	57012049	G	A	57012049	3	1	131	1	0	0	0	0	1	0	0	0	17919	1058	37	1	1204	1	ZNF451	6	57012049	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	94510	57012049	114103018	711	76886											
KHDRBS2	202559	broad.mit.edu	37	chr6	62604604	62604604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctggcactgttggtgccCcccgggctcgaggggtaggg	17	12	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:62604604C>T	uc003peg.2	-	6	993	c.746G>A	c.(745-747)GGG>GAG	p.G249E		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	249	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		TGTTGGTGCCCCCCGGGCTCG	0.552													T	62604604	C	T	62604604	3	4	131	1	0	0	0	0	1	0	0	0	8147	623	22	4	319	4	KHDRBS2	6	62604604	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	5592555	62604604	108510463	712	76887											
SMAP1	60682	broad.mit.edu	37	chr6	71546674	71546674	+	Frame_Shift_Del	DEL	A	A	-													aagatcagcaactggagcctAaaaaaagtaccagccctaaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:71546673_71546673TA>T	uc003pfr.3	+	6	854	c.606_606TA>T	c.(604-606)cctfs	p.P202fs	SMAP1_uc003pfs.3_Frame_Shift_Del_p.P175fs|SMAP1_uc010kao.3_Frame_Shift_Del_p.P175fs|SMAP1_uc010kap.3_Frame_Shift_Del_p.P192fs	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN	Homo sapiens small ArfGAP 1 (SMAP1), transcript variant 1, mRNA.	202					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						AACTGGAGCCTAAAAAAAGTA	0.328													-	71546674	A	-	71546674	7	5	131	1	0	1	0	1	0	0	0	0	14766	363	13	0	633	0	SMAP1	6	71546674	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	8942070	71546674	99568393	713	76888											
DDX43	55510	broad.mit.edu	37	chr6	74117732	74117732	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgaacaaatagaagagcttAaaaaaggtgtagatatcata	8	3	1	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:74117732A>T	uc003pgw.2	+	9	1431	c.1087A>T	c.(1087-1089)AAA>TAA	p.K363*	DDX43_uc011dyn.1_RNA	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	363	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						AGAAGAGCTTAAAAAAGGTGT	0.323													T	74117732	A	T	74117732	4	4	131	1	0	0	0	0	0	1	0	0	4363	363	13	5	1121	5	DDX43	6	74117732	Nonsense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	2571058	74117732	96997335	714	76889											
COL12A1	1303	broad.mit.edu	37	chr6	75799910	75799910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttctcctctggctcctgCgctaccaggaggtcccggtg	13	14	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:75799910C>T	uc003phs.2	-	63	9023	c.8857G>A	c.(8857-8859)GCA>ACA	p.A2953T	COL12A1_uc003pht.2_Missense_Mutation_p.A1789T	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2953	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CTGGCTCCTGCGCTACCAGGA	0.622													T	75799910	C	T	75799910	3	4	131	1	0	0	0	0	1	0	0	0	3669	768	27	1	350	1	COL12A1	6	75799910	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1682178	75799910	95315157	715	76890											
COL12A1	1303	broad.mit.edu	37	chr6	75834938	75834938	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggattgagattgtgtAaggtatatgatgtcatttct	12	3	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:75834938A>G	uc003phs.2	-	40	6678	c.6512T>C	c.(6511-6513)TTA>TCA	p.L2171S	COL12A1_uc003pht.2_Missense_Mutation_p.L1007S	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2171	Fibronectin type-III 17.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GAGATTGTGTAAGGTATATGA	0.413													G	75834938	A	G	75834938	3	3	131	1	0	0	0	0	1	0	0	0	3669	372	13	3	2787	3	COL12A1	6	75834938	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	35028	75834938	95280129	716	76891											
COL12A1	1303	broad.mit.edu	37	chr6	75890672	75890672	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccttcttcggtggtctccTctccagctaagggaatgctg	10	13	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:75890672T>C	uc003phs.2	-	11	2313	c.2147A>G	c.(2146-2148)GAG>GGG	p.E716G	COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.E374G	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	716	Fibronectin type-III 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GGTGGTCTCCTCTCCAGCTAA	0.448													C	75890672	T	C	75890672	3	2	131	1	0	0	0	0	1	0	0	0	3669	1551	54	3	7268	3	COL12A1	6	75890672	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	55734	75890672	95224395	717	76892											
MYO6	4646	broad.mit.edu	37	chr6	76623869	76623869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttccgcatcccattcatcCgccctgccgaccagtacaaa	5	18	2	0	rs146419641	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:76623869C>T	uc003pih.1	+	34	3808	c.3529C>T	c.(3529-3531)CGC>TGC	p.R1177C	MYO6_uc003pii.1_Missense_Mutation_p.R1154C|MYO6_uc003pij.1_Missense_Mutation_p.R125C	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1186					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CCCATTCATCCGCCCTGCCGA	0.522													T	76623869	C	T	76623869	3	4	131	1	0	0	0	0	1	0	0	0	10081	652	23	1	3659	1	MYO6	6	76623869	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	733197	76623869	94491198	718	76893											
MYO6	4646	broad.mit.edu	37	chr6	76624686	76624686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgagagcagacaggctcGgcccacctatgcaacagcca	11	13	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:76624686G>A	uc003pih.1	+	35	4094	c.3815G>A	c.(3814-3816)CGG>CAG	p.R1272Q	MYO6_uc003pii.1_Missense_Mutation_p.R1249Q|MYO6_uc003pij.1_Missense_Mutation_p.R220Q	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1281					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AGACAGGCTCGGCCCACCTAT	0.517													A	76624686	G	A	76624686	3	1	131	1	0	0	0	0	1	0	0	0	10081	1116	39	1	3949	1	MYO6	6	76624686	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	817	76624686	94490381	719	76894											
IMPG1	3617	broad.mit.edu	37	chr6	76713645	76713645	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgggtgtcaggaccaaaGgctggcagtgatccagcaat	14	8	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:76713645G>A	uc003pik.1	-	11	1288	c.1158C>T	c.(1156-1158)GCC>GCT	p.A386A		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	386					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CAGGACCAAAGGCTGGCAGTG	0.388													A	76713645	G	A	76713645	2	1	131	1	0	0	0	0	0	0	0	1	7728	987	35	4		4	IMPG1	6	76713645	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	88959	76713645	94401422	720	76895											
TBX18	9096	broad.mit.edu	37	chr6	85447043	85447043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggaaggcaggagaggagCaagaggagccagacaaaagg	18	5	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:85447043C>T	uc003pkl.1	-	8	1184	c.1184G>A	c.(1183-1185)TGC>TAC	p.C395Y	TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	395					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.C395F(1)		ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		AGGAGAGGAGCAAGAGGAGCC	0.572													T	85447043	C	T	85447043	3	4	131	1	0	0	0	0	1	0	0	0	15650	710	25	2	643	2	TBX18	6	85447043	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	8733398	85447043	85668024	721	76896											
AKIRIN2	55122	broad.mit.edu	37	chr6	88391420	88391420	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtctgttggaaactcgtTtctaaatgtcttctcttctg	7	9	6	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:88391420T>C	uc003pmk.2	-	2	880	c.297A>G	c.(295-297)GAA>GAG	p.E99E		NM_018064	NP_060534	Q53H80	AKIR2_HUMAN	akirin 2	99					innate immune response|transcription, DNA-dependent	transcriptional repressor complex					0						GGAAACTCGTTTCTAAATGTC	0.353													C	88391420	T	C	88391420	2	2	131	1	0	0	0	0	0	0	0	1	462	1838	64	3		3	AKIRIN2	6	88391420	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	2944377	88391420	82723647	722	76897											
GRIK2	2898	broad.mit.edu	37	chr6	102307246	102307247	+	Frame_Shift_Del	DEL	AG	AG	-													gctattgcattgatctcctcAgagagttatctacaatcctt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:102307245_102307246CAG>C	uc003pqp.4	+	9	1694_1695	c.1401_1402CAG>C	c.(1399-1404)ctcagafs	p.L467fs	GRIK2_uc003pqn.3_Frame_Shift_Del_p.L467fs|GRIK2_uc010kcw.3_Frame_Shift_Del_p.L467fs|GRIK2_uc003pqo.4_Frame_Shift_Del_p.L467fs|GRIK2_uc021zdk.1_Frame_Shift_Del_p.L467fs|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	467					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTGATCTCCTCAGAGAGTTATC	0.381													-	102307247	AG	-	102307246	7	5	131	1	0	1	0	1	0	0	0	0	6774	180	7	0	1440	0	GRIK2	6	102307246	Frame_Shift_Del	DEL	AG	TCGA-BR-A4QL-01A-31D-A25D-08	13915826	102307246	68807821	723	76898											
ZBTB24	9841	broad.mit.edu	37	chr6	109787639	109787639	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagtgagccttcaagttGtctaagcgagcaaactgtaa	9	8	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:109787639G>A	uc003ptl.1	-	7	1677	c.1509C>T	c.(1507-1509)GAC>GAT	p.D503D	MICAL1_uc011eaq.1_5'Flank|ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Silent_p.D447D|ZBTB24_uc010kdt.1_RNA	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24 isoform	503	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CCTTCAAGTTGTCTAAGCGAG	0.458													A	109787639	G	A	109787639	2	1	131	1	0	0	0	0	0	0	0	1	17528	1368	48	4		4	ZBTB24	6	109787639	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	7480393	109787639	61327428	724	76899											
ZBTB24	9841	broad.mit.edu	37	chr6	109796613	109796613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagttttacctgtgtgtgttCgcagatgtttctttagctga	11	6	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:109796613C>T	uc003ptl.1	-	5	1445	c.1277G>A	c.(1276-1278)CGA>CAA	p.R426Q	ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.R370Q|ZBTB24_uc010kdt.1_RNA	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24 isoform	426	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGTGTGTGTTCGCAGATGTTT	0.468													T	109796613	C	T	109796613	3	4	131	1	0	0	0	0	1	0	0	0	17528	884	31	1	828	1	ZBTB24	6	109796613	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	8974	109796613	61318454	725	76900											
REV3L	5980	broad.mit.edu	37	chr6	111709248	111709248	+	Frame_Shift_Del	DEL	A	A	-													atttcctgaagtctcttctgAaattttttttcactttctgt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:111709248delA	uc003puy.3	-	8	1226	c.903delT	c.(901-903)TTTfs	p.F301fs	REV3L_uc003pux.3_Frame_Shift_Del_p.F223fs|REV3L_uc003puz.3_Frame_Shift_Del_p.F223fs	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	301					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTCTCTTCTGAAATTTTTTTT	0.284								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					-	111709248	A	-	111709248	7	5	131	1	0	1	0	1	0	0	0	0	13240	243	9	0	8589	0	REV3L	6	111709248	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	1912635	111709248	59405819	726	76901											
TUBE1	51175	broad.mit.edu	37	chr6	112400892	112400892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcaatcacagtgctctgccGactttctgaatttctctaaa	6	11	4	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:112400892G>A	uc003pvq.2	-	6	506	c.392C>T	c.(391-393)TCG>TTG	p.S131L	TUBE1_uc003pvr.2_Missense_Mutation_p.S56L	NM_016262	NP_057346	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	131					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			ovary(1)	1		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		GTGCTCTGCCGACTTTCTGAA	0.373													A	112400892	G	A	112400892	3	1	131	1	0	0	0	0	1	0	0	0	16760	1059	37	1	1063	1	TUBE1	6	112400892	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	691644	112400892	58714175	727	76902											
ROS1	6098	broad.mit.edu	37	chr6	117642517	117642517	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttataagcactgtcaccccTtccttggcacttttttgatt	5	11	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:117642517T>A	uc003pxp.1	-	35	5881	c.5682A>T	c.(5680-5682)GAA>GAT	p.E1894D	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Missense_Mutation_p.E206D	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1894	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTGTCACCCCTTCCTTGGCAC	0.398			T	GOPC|ROS1	glioblastoma|NSCLC								A	117642517	T	A	117642517	3	1	131	1	0	0	0	0	1	0	0	0	13531	1606	56	5	1397	5	ROS1	6	117642517	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	5241625	117642517	53472550	728	76903											
ROS1	6098	broad.mit.edu	37	chr6	117662759	117662759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatgaggctggtgtctgacCgcacagttgtattaatgagc	12	7	1	3	rs141448347		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:117662759C>T	uc003pxp.1	-	29	4905	c.4706G>A	c.(4705-4707)CGG>CAG	p.R1569Q	ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1569	Fibronectin type-III 7.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGTGTCTGACCGCACAGTTGT	0.428			T	GOPC|ROS1	glioblastoma|NSCLC								T	117662759	C	T	117662759	3	4	131	1	0	0	0	0	1	0	0	0	13531	652	23	1	2397	1	ROS1	6	117662759	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	20242	117662759	53452308	729	76904											
ROS1	6098	broad.mit.edu	37	chr6	117681120	117681121	+	Frame_Shift_Ins	INS	-	-	A													ttgattttgatccatatctaINSaaaaaactatcttgttacca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:117681119_117681120T>TA	uc003pxp.1	-	22	3699_3700	c.3500_3501A>TA	c.(3499-3501)ttafs	p.L1167fs	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1167					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GATCCATATCTAAAAAAACTAT	0.356			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								A	117681121	-	A	117681120	7	5	131	1	0	1	1	0	0	0	0	0	13531	372	13	0	3627	0	ROS1	6	117681120	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	18361	117681120	53433947	730	76905											
NUS1	116150	broad.mit.edu	37	chr6	118014204	118014204	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctttttcttttttaaaGgtattttcaaaagaaataat	4	4	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:118014204G>T	uc003pxw.2	+	2	633	c.416_splice	c.e2-1	p.G139_splice		NM_138459	NP_612468	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1						angiogenesis|cell differentiation	integral to membrane	receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups			central_nervous_system(1)	1		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		CTTTTTTAAAGGTATTTTCAA	0.318													T	118014204	G	T	118014204	5	4	131	1	0	0	0	0	0	0	1	0	10777	1014	35	5	421	5	NUS1	6	118014204	Splice_Site	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	333084	118014204	53100863	731	76906											
FAM184A	79632	broad.mit.edu	37	chr6	119344234	119344234	+	Frame_Shift_Del	DEL	T	T	-													tccttggcatcatcaagctgTttttgaagaacctaagaaag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:119344234delT	uc003pyj.2	-	3	1374	c.1026delA	c.(1024-1026)AAAfs	p.K342fs	FAM184A_uc003pyk.3_Frame_Shift_Del_p.K222fs|FAM184A_uc003pyl.3_Frame_Shift_Del_p.K222fs	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	342	Potential.									ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						CATCAAGCTGTTTTTGAAGAA	0.368													-	119344234	T	-	119344234	7	5	131	1	0	1	0	1	0	0	0	0	5511	1722	60	0	2460	0	FAM184A	6	119344234	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	1330030	119344234	51770833	732	76907											
HSF2	3298	broad.mit.edu	37	chr6	122753116	122753116	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttccacttcttgcattcctCgatgggaaccctgcttcttc	6	14	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:122753116C>T	uc003pyu.2	+	13	1549	c.1362C>T	c.(1360-1362)CTC>CTT	p.L454L	HSF2_uc003pyv.2_Silent_p.L436L	NM_004506	NP_004497	Q03933	HSF2_HUMAN	heat shock transcription factor 2 isoform a	454					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TTGCATTCCTCGATGGGAACC	0.418													T	122753116	C	T	122753116	2	4	131	1	0	0	0	0	0	0	0	1	7396	871	31	1		1	HSF2	6	122753116	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3408882	122753116	48361951	733	76908											
THEMIS	387357	broad.mit.edu	37	chr6	128134568	128134568	+	Frame_Shift_Del	DEL	T	T	-													caggccagaacattcaccacTttttttattccctcacagag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:128134568delT	uc003qbi.2	-	5	1537	c.1218delA	c.(1216-1218)AAAfs	p.K406fs	THEMIS_uc010kfa.2_Frame_Shift_Del_p.K309fs|THEMIS_uc011ebt.1_Frame_Shift_Del_p.K406fs|THEMIS_uc010kfb.2_Frame_Shift_Del_p.K371fs	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	406	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4						CATTCACCACTTTTTTTATTC	0.463													-	128134568	T	-	128134568	7	5	131	1	0	1	0	1	0	0	0	0	15857	1606	56	0	840	0	THEMIS	6	128134568	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	5381452	128134568	42980499	734	76909											
LAMA2	3908	broad.mit.edu	37	chr6	129511427	129511427	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggataattggaaaggctgCgatgagtgtttctgttcagg	15	4	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:129511427C>T	uc003qbn.2	+	11	1650	c.1545C>T	c.(1543-1545)TGC>TGT	p.C515C	LAMA2_uc003qbo.2_Silent_p.C515C	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	515	Laminin EGF-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGAAAGGCTGCGATGAGTGTT	0.443													T	129511427	C	T	129511427	2	4	131	1	0	0	0	0	0	0	0	1	8606	776	27	1		1	LAMA2	6	129511427	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1376859	129511427	41603640	735	76910											
ARHGAP18	93663	broad.mit.edu	37	chr6	129921947	129921947	+	Frame_Shift_Del	DEL	T	T	-													cattcatgactgtcattttaTttttttctttattatctatt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:129921947delT	uc003qbr.2	-	11	1501	c.1412delA	c.(1411-1413)AATfs	p.N471fs	ARHGAP18_uc011ebw.1_Frame_Shift_Del_p.N471fs	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	471	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			ovary(2)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TGTCATTTTATTTTTTTCTTT	0.343													-	129921947	T	-	129921947	7	5	131	1	0	1	0	1	0	0	0	0	868	1493	52	0	599	0	ARHGAP18	6	129921947	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	410520	129921947	41193120	736	76911											
KIAA1244	57221	broad.mit.edu	37	chr6	138619829	138619829	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcctcactgactggaaTgagccacctcattttcactt	7	12	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:138619829T>C	uc003qhu.2	+	22	3735	c.3735T>C	c.(3733-3735)AAT>AAC	p.N1245N		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1245					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTGACTGGAATGAGCCACCTC	0.478													C	138619829	T	C	138619829	2	2	131	1	0	0	0	0	0	0	0	1	8217	1461	51	3		3	KIAA1244	6	138619829	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	8697882	138619829	32495238	737	76912											
HIVEP2	3097	broad.mit.edu	37	chr6	143094745	143094745	+	Frame_Shift_Del	DEL	T	T	-													gatggctcagaatcttgtccTtttttctctgacagtcttag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:143094745delT	uc003qjd.2	-	5	1874	c.1131delA	c.(1129-1131)AAAfs	p.K377fs		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AATCTTGTCCTTTTTTCTCTG	0.433													-	143094745	T	-	143094745	7	5	131	1	0	1	0	1	0	0	0	0	7187	1606	56	0	6233	0	HIVEP2	6	143094745	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	4474916	143094745	28020322	738	76913											
LATS1	9113	broad.mit.edu	37	chr6	150004891	150004891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatttcatgcccactgctcGgggatgactgggctggagca	15	10	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:150004891G>A	uc003qmu.1	-	4	1882	c.1334C>T	c.(1333-1335)CCG>CTG	p.P445L	LATS1_uc010kif.1_Missense_Mutation_p.P340L|LATS1_uc003qmv.1_Missense_Mutation_p.P445L|LATS1_uc003qmw.2_Missense_Mutation_p.P445L|LATS1_uc010kig.1_Missense_Mutation_p.P340L	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	445					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CCCACTGCTCGGGGATGACTG	0.423													A	150004891	G	A	150004891	3	1	131	1	0	0	0	0	1	0	0	0	8646	1116	39	1	2078	1	LATS1	6	150004891	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	6910146	150004891	21110176	739	76914											
PLEKHG1	57480	broad.mit.edu	37	chr6	151161247	151161247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactcccaggcaattgtccGcagcttgctctgtgccttct	9	14	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:151161247G>A	uc003qny.1	+	17	3685	c.3373G>A	c.(3373-3375)GCA>ACA	p.A1125T	PLEKHG1_uc011eem.1_Missense_Mutation_p.A1184T	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	1125					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCAATTGTCCGCAGCTTGCTC	0.498													A	151161247	G	A	151161247	3	1	131	1	0	0	0	0	1	0	0	0	12068	1087	38	1	3431	1	PLEKHG1	6	151161247	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1156356	151161247	19953820	740	76915											
MTHFD1L	25902	broad.mit.edu	37	chr6	151355726	151355726	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagccaaaatagatcgttAcactcaacaggtaaaagttc	6	9	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:151355726A>G	uc003qob.2	+	25	2952	c.2684A>G	c.(2683-2685)TAC>TGC	p.Y895C	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Missense_Mutation_p.Y896C|MTHFD1L_uc003qoc.2_Missense_Mutation_p.Y843C	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	895	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ATAGATCGTTACACTCAACAG	0.418													G	151355726	A	G	151355726	3	3	131	1	0	0	0	0	1	0	0	0	9928	391	14	3	2782	3	MTHFD1L	6	151355726	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	194479	151355726	19759341	741	76916											
RMND1	55005	broad.mit.edu	37	chr6	151766824	151766824	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacgtattgtcagtgtgctGcatgttgtattttcaaattc	9	6	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:151766824G>A	uc003qoi.2	-	2	303	c.123C>T	c.(121-123)TGC>TGT	p.C41C	RMND1_uc011eeq.1_5'Flank|RMND1_uc003qoj.2_Silent_p.C41C|RMND1_uc011eer.1_Silent_p.C41C	NM_017909	NP_060379	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog	41											0		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TCAGTGTGCTGCATGTTGTAT	0.378													A	151766824	G	A	151766824	2	1	131	1	0	0	0	0	0	0	0	1	13396	1311	46	2		2	RMND1	6	151766824	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	411098	151766824	19348243	742	76917											
SYNE1	23345	broad.mit.edu	37	chr6	152776589	152776590	+	Frame_Shift_Ins	INS	-	-	C													ccgcaggagctcctctggatINScccccttttcctccaggccc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:152776589_152776590insC	uc010kiw.2	-	24	3465_3466	c.2863_2864insG	c.(2863-2865)GATfs	p.D955fs	SYNE1_uc003qot.3_Frame_Shift_Ins_p.D962fs|SYNE1_uc003qou.3_Frame_Shift_Ins_p.D955fs|SYNE1_uc010kjb.1_Frame_Shift_Ins_p.D938fs|SYNE1_uc003qow.2_Frame_Shift_Ins_p.D250fs|SYNE1_uc003qox.1_Frame_Shift_Ins_p.D471fs|SYNE1_uc003qoz.2_Frame_Shift_Ins_p.D387fs|SYNE1_uc003qoy.2_Frame_Shift_Ins_p.D522fs	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	955	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)		CTCCTCTGGATCCCCCTTTTCC	0.51										HNSCC(10;0.0054)			C	152776590	-	C	152776589	7	5	131	1	0	1	1	0	0	0	0	0	15442	1435	50	0	24094	0	SYNE1	6	152776589	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1009765	152776589	18338478	743	76918	360	2									
SYNE1	23345	broad.mit.edu	37	chr6	152776590	152776591	+	Frame_Shift_Ins	INS	-	-	C													cgcaggagctcctctggatcINSccccttttcctccaggccct							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:152776589_152776590T>TC	uc021zhb.1	-	21	3086_3087	c.2863_2864A>GA	c.(2863-2865)gatfs	p.D955fs	SYNE1_uc003qot.4_Frame_Shift_Ins_p.D962fs|SYNE1_uc003qou.4_Frame_Shift_Ins_p.D955fs|SYNE1_uc010kjb.1_Frame_Shift_Ins_p.D938fs|SYNE1_uc003qow.3_Frame_Shift_Ins_p.D250fs|SYNE1_uc003qox.1_Frame_Shift_Ins_p.D471fs|SYNE1_uc003qoz.2_Frame_Shift_Ins_p.D387fs|SYNE1_uc003qoy.2_Frame_Shift_Ins_p.D522fs	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	955					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCTCTGGATCCCCCTTTTCC	0.51										HNSCC(10;0.0054)			C	152776591	-	C	152776590	7	5	131	1	0	1	1	0	0	0	0	0	15442	855	30	0	24095	0	SYNE1	6	152776590	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	152776590	18338477	744	76919	360	2									
NOX3	50508	broad.mit.edu	37	chr6	155761274	155761274	+	Splice_Site	DEL	A	A	-													caattcagtggttgtgttctAaaaaaaacaacaacaacaaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:155761273_155761273TA>T	uc003qqm.3	-	6	590	c.487_splice	c.e6-1	p.N163_splice		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	163	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GGTTGTGTTCTaaaaaaaaca	0.358													-	155761274	A	-	155761274	8	5	131	1	0	1	0	1	0	0	1	0	10557	377	13	0		0	NOX3	6	155761274	Splice_Site	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	2984684	155761274	15353793	745	76920											
ARID1B	57492	broad.mit.edu	37	chr6	157527817	157527817	+	Frame_Shift_Del	DEL	C	C	-													ctcctcgcaggcgcccacctCcccccttaagctccgcaggt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:157527817delC	uc003qqn.2	+	20	5640	c.5488delC	c.(5488-5490)CCCfs	p.P1830fs	ARID1B_uc003qqo.2_Frame_Shift_Del_p.P1790fs|ARID1B_uc003qqp.2_Frame_Shift_Del_p.P1777fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1835	Poly-Pro.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCGCCCACCTCCCCCCTTAAG	0.552													-	157527817	C	-	157527817	7	5	131	1	0	1	0	1	0	0	0	0	914	855	30	0	5620	0	ARID1B	6	157527817	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	1766543	157527817	13587250	746	76921											
ARID1B	57492	broad.mit.edu	37	chr6	157528929	157528929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcggaattccttttgcaCgagggccggttgctggatat	13	10	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:157528929C>T	uc003qqn.2	+	20	6752	c.6600C>T	c.(6598-6600)CAC>CAT	p.H2200H	ARID1B_uc003qqo.2_Silent_p.H2160H|ARID1B_uc003qqp.2_Silent_p.H2147H	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2205					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCTTTTGCACGAGGGCCGGT	0.527													T	157528929	C	T	157528929	2	4	131	1	0	0	0	0	0	0	0	1	914	535	19	1		1	ARID1B	6	157528929	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1112	157528929	13586138	747	76922											
TULP4	56995	broad.mit.edu	37	chr6	158900957	158900957	+	Frame_Shift_Del	DEL	C	C	-													acgtcagcaagctgactctgCccccccgcctctgctcctac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:158900956_158900956GC>G	uc003qrf.3	+	6	2557	c.1200_1200GC>G	c.(1198-1200)ctgfs	p.L400fs	TULP4_uc011efo.2_Frame_Shift_Del_p.L400fs|TULP4_uc003qrg.3_Frame_Shift_Del_p.L400fs	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	400	SOCS box.				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.R403fs*91(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AGCTGACTCTGCCCCCCCGCC	0.642													-	158900957	C	-	158900957	7	5	131	1	0	1	0	1	0	0	0	0	16773	739	26	0	1227	0	TULP4	6	158900957	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	1372028	158900957	12214110	748	76923											
TULP4	56995	broad.mit.edu	37	chr6	158924181	158924181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcagggccagcacctggaCgtgtcccgactgcccttcat	11	15	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:158924181C>T	uc003qrf.2	+	13	4843	c.3486C>T	c.(3484-3486)GAC>GAT	p.D1162D	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1162					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AGCACCTGGACGTGTCCCGAC	0.557													T	158924181	C	T	158924181	2	4	131	1	0	0	0	0	0	0	0	1	16773	535	19	1		1	TULP4	6	158924181	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	23224	158924181	12190886	749	76924											
RSPH3	83861	broad.mit.edu	37	chr6	159401904	159401904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgcaaatgctcgggcgGcgattttttgtgatgtctcg	14	8	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:159401904G>A	uc003qrx.2	-	6	1377	c.1187C>T	c.(1186-1188)GCC>GTC	p.A396V	RSPH3_uc010kju.2_Missense_Mutation_p.A300V	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog	396										ovary(1)|skin(1)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TGCTCGGGCGGCGATTTTTTG	0.483													A	159401904	G	A	159401904	3	1	131	1	0	0	0	0	1	0	0	0	13705	1203	42	2	507	2	RSPH3	6	159401904	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	477723	159401904	11713163	750	76925											
IGF2R	3482	broad.mit.edu	37	chr6	160461692	160461694	+	In_Frame_Del	DEL	CCT	CCT	-													tgtgttaaggagaaggaagaCctcctctgcggtgccaccga							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:160461692_160461694delCCT	uc003qta.2	+	11	1564_1566	c.1416_1418delCCT	c.(1414-1419)GACCTC>GAC	p.L474del		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	474	Lumenal (Potential).|3.				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGAAGGAAGACCTCCTCTGCGGT	0.567													-	160461694	CCT	-	160461692	7	5	131	1	0	1	0	1	0	0	0	0	7576	506	18	0	1458	0	IGF2R	6	160461692	In_Frame_Del	DEL	CCT	TCGA-BR-A4QL-01A-31D-A25D-08	1059788	160461692	10653375	751	76926											
SLC22A3	6581	broad.mit.edu	37	chr6	160864677	160864677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagaaatttcggagtttcGctctgttcaggtctgtgtga	11	7	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:160864677G>A	uc003qti.2	+	9	1440	c.1413G>A	c.(1411-1413)TCG>TCA	p.S471S	SLC22A3_uc011efx.1_RNA	NM_021977	NP_068812	O75751	S22A3_HUMAN	solute carrier family 22 member 3	471	Helical; (Potential).					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TCGGAGTTTCGCTCTGTTCAG	0.378													A	160864677	G	A	160864677	2	1	131	1	0	0	0	0	0	0	0	1	14455	1074	38	1		1	SLC22A3	6	160864677	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	402985	160864677	10250390	752	76927											
PARK2	5071	broad.mit.edu	37	chr6	161781122	161781122	+	Splice_Site	DEL	T	T	-													tgctcagcacagactcaccaTttttttccactggtacatgg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:161781121_161781121AT>A	uc021zhu.1	-	12	1517	c.1426_splice	c.e12+1	p.G476_splice	PARK2_uc003qtv.4_Intron|PARK2_uc003qtw.4_Intron|PARK2_uc010kkd.3_Splice_Site_p.G238_splice|PARK2_uc003qtx.4_Splice_Site_p.G429_splice|PARK2_uc021zhs.1_Splice_Site_p.G351_splice|PARK2_uc021zht.1_Splice_Site|PARK2_uc003qty.4_Splice_Site_p.G401_splice|PARK2_uc003qtz.4_Splice_Site_p.G280_splice|PARK2_uc021zhv.1_Splice_Site_p.G350_splice|PARK2_uc021zhw.1_Splice_Site_p.G238_splice|PARK2_uc021zhx.1_Splice_Site|PARK2_uc021zhy.1_Splice_Site_p.G379_splice|PARK2_uc011egf.2_Splice_Site_p.G103_splice	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	429					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CAGACTCACCATTTTTTTCCA	0.517													-	161781122	T	-	161781122	8	5	131	1	0	1	0	1	0	0	1	0	11449	1493	52	0	122	0	PARK2	6	161781122	Splice_Site	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	916445	161781122	9333945	753	76928											
UNC93A	54346	broad.mit.edu	37	chr6	167717522	167717522	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctggtccactttactgtcGactttcaagctatatagaga	7	9	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:167717522G>A	uc003qvq.2	+	5	916	c.741G>A	c.(739-741)TCG>TCA	p.S247S	UNC93A_uc003qvr.2_Silent_p.S205S	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	247						integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ctttactgtcgactttcaagc	0.294													A	167717522	G	A	167717522	2	1	131	1	0	0	0	0	0	0	0	1	16993	1045	37	1		1	UNC93A	6	167717522	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	5936400	167717522	3397545	754	76929											
TTLL2	83887	broad.mit.edu	37	chr6	167754366	167754367	+	Frame_Shift_Ins	INS	-	-	T													gtaaatggacgctcagcagaINStttttttcctaccttcgtag					rs150247166		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:167754366_167754367insT	uc003qvs.1	+	3	1066_1067	c.978_979insT	c.(976-981)AGATTTfs	p.R326fs	TTLL2_uc011egr.1_RNA	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	326_327	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CGCTCAGCAGATTTTTTTCCTA	0.446													T	167754367	-	T	167754366	7	5	131	1	0	1	1	0	0	0	0	0	16724	330	12	0	988	0	TTLL2	6	167754366	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	36844	167754366	3360701	755	76930	361	2									
TTLL2	83887	broad.mit.edu	37	chr6	167754367	167754368	+	Frame_Shift_Ins	INS	-	-	T													taaatggacgctcagcagatINSttttttcctaccttcgtagc					rs150247166		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr6:167754366_167754367A>AT	uc003qvs.1	+	2	1066_1067	c.978_979A>AT	c.(976-981)agatttfs	p.R326fs		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	326	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CGCTCAGCAGATTTTTTTCCTA	0.446													T	167754368	-	T	167754367	7	5	131	1	0	1	1	0	0	0	0	0	16724	1493	52	0	989	0	TTLL2	6	167754367	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	167754367	3360700	756	76931	361	2									
C7orf50	84310	broad.mit.edu	37	chr7	1037311	1037311	+	Frame_Shift_Del	DEL	G	G	-													gcgctgggccctccccggcaGggggggatcagagccctcct							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:1037311delG	uc003sju.2	-	5	605	c.535delC	c.(535-537)CTGfs	p.L179fs	C7orf50_uc003sjs.2_RNA|C7orf50_uc011jvt.1_Frame_Shift_Del_p.L179fs|C7orf50_uc011jvu.1_Frame_Shift_Del_p.L179fs	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN	hypothetical protein LOC84310	179							protein binding				0		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CTCCCCGGCAGGGGGGGATCA	0.721													-	1037311	G	-	1037311	7	5	131	1	0	1	0	1	0	0	0	0	2399	991	35	0	53	0	C7orf50	7	1037311	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08		1037311	158101352	757	76932											
C7orf50	84310	broad.mit.edu	37	chr7	1049627	1049627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcggcccccgagcgcctGgcaggcgggtgctgggccac	17	15	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:1049627G>A	uc003sju.2	-	3	352	c.282C>T	c.(280-282)GCC>GCT	p.A94A	C7orf50_uc003sjs.2_RNA|C7orf50_uc011jvt.1_Silent_p.A94A|C7orf50_uc011jvu.1_Silent_p.A94A	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN	hypothetical protein LOC84310	94							protein binding				0		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CCGAGCGCCTGGCAGGCGGGT	0.667													A	1049627	G	A	1049627	2	1	131	1	0	0	0	0	0	0	0	1	2399	1335	47	4		4	C7orf50	7	1049627	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	12316	1049627	158089036	758	76933											
SDK1	221935	broad.mit.edu	37	chr7	4050642	4050642	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaacgttggccctgagatgAcaggcgtcaccgtgagtggc	14	11	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:4050642A>G	uc003smx.2	+	15	2315	c.2176A>G	c.(2176-2178)ACA>GCA	p.T726A	SDK1_uc010kso.2_Missense_Mutation_p.T2A	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	726	Fibronectin type-III 1.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCTGAGATGACAGGCGTCAC	0.527													G	4050642	A	G	4050642	3	3	131	1	0	0	0	0	1	0	0	0	13968	275	10	3	2234	3	SDK1	7	4050642	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	3001015	4050642	155088021	759	76934											
SDK1	221935	broad.mit.edu	37	chr7	4247845	4247845	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccataccaagtacctggtcAgcatatcagccttcaacgcc	7	15	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:4247845A>C	uc003smx.2	+	37	5468	c.5329A>C	c.(5329-5331)AGC>CGC	p.S1777R	SDK1_uc010kso.2_Missense_Mutation_p.S1033R|SDK1_uc003smy.2_Missense_Mutation_p.S264R	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1777	Fibronectin type-III 11.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTACCTGGTCAGCATATCAGC	0.607													C	4247845	A	C	4247845	3	2	131	1	0	0	0	0	1	0	0	0	13968	188	7	5	5475	5	SDK1	7	4247845	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	197203	4247845	154890818	760	76935											
TNRC18	84629	broad.mit.edu	37	chr7	5372608	5372608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccagccccttcttgggcCgcagcagccccgcaggcgac	11	21	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:5372608C>T	uc003soi.3	-	19	6141	c.5792G>A	c.(5791-5793)CGG>CAG	p.R1931Q		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1931							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTTCTTGGGCCGCAGCAGCCC	0.721													T	5372608	C	T	5372608	3	4	131	1	0	0	0	0	1	0	0	0	16336	652	23	1	3162	1	TNRC18	7	5372608	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1124763	5372608	153766055	761	76936											
RNF216	54476	broad.mit.edu	37	chr7	5781254	5781254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaagatccagaaattcacCgtagtcatcctcagaatcat	5	13	4	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:5781254C>T	uc003soy.1	-	4	413	c.223G>A	c.(223-225)GGT>AGT	p.G75S	RNF216_uc010ksz.1_5'UTR|RNF216_uc010kta.1_Intron|RNF216_uc011jwj.1_Intron|RNF216_uc003sox.1_Missense_Mutation_p.G132S	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	75					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AGAAATTCACCGTAGTCATCC	0.458													T	5781254	C	T	5781254	3	4	131	1	0	0	0	0	1	0	0	0	13480	652	23	1	2433	1	RNF216	7	5781254	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	408646	5781254	153357409	762	76937											
DAGLB	221955	broad.mit.edu	37	chr7	6449620	6449620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tattttgctgaattccgcttCgtgtgaccacttggcgctat	9	10	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:6449620C>T	uc003sqa.2	-	15	2037	c.1867G>A	c.(1867-1869)GAA>AAA	p.E623K	DAGLB_uc003spy.2_Missense_Mutation_p.E169K|DAGLB_uc003spz.2_Missense_Mutation_p.E320K|DAGLB_uc011jwt.1_Missense_Mutation_p.E437K|DAGLB_uc011jwu.1_Missense_Mutation_p.E494K|DAGLB_uc003sqb.2_Missense_Mutation_p.E342K|DAGLB_uc003sqc.2_Missense_Mutation_p.E342K|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.E582K	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	623	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		AATTCCGCTTCGTGTGACCAC	0.592													T	6449620	C	T	6449620	3	4	131	1	0	0	0	0	1	0	0	0	4227	893	31	1	155	1	DAGLB	7	6449620	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	668366	6449620	152689043	763	76938											
DAGLB	221955	broad.mit.edu	37	chr7	6456287	6456287	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccggggtggggagaaggcGtagcacctgacctgcgggta	18	11	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:6456287G>A	uc003sqa.2	-	11	1568	c.1398C>T	c.(1396-1398)TAC>TAT	p.Y466Y	DAGLB_uc003spy.2_Silent_p.Y12Y|DAGLB_uc003spz.2_Silent_p.Y163Y|DAGLB_uc011jwt.1_Silent_p.Y280Y|DAGLB_uc011jwu.1_Silent_p.Y337Y|DAGLB_uc003sqb.2_Silent_p.Y185Y|DAGLB_uc003sqc.2_Silent_p.Y185Y|DAGLB_uc011jwv.1_Intron|DAGLB_uc003sqd.3_Silent_p.Y425Y|DAGLB_uc011jww.1_RNA	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	466	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGGAGAAGGCGTAGCACCTGA	0.607													A	6456287	G	A	6456287	2	1	131	1	0	0	0	0	0	0	0	1	4227	1140	40	1		1	DAGLB	7	6456287	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	6667	6456287	152682376	764	76939											
ETV1	2115	broad.mit.edu	37	chr7	13975473	13975474	+	Frame_Shift_Ins	INS	-	-	G													ctggcgtgctggatggtgtgINSggggggttggagggcctcat							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:13975472_13975473T>TG	uc021zzz.1	-	5	501_502	c.414_415A>CA	c.(412-417)cccacafs	p.P138fs	ETV1_uc021zzt.1_Frame_Shift_Ins_p.P98fs|ETV1_uc021zzu.1_Intron|ETV1_uc021zzv.1_Frame_Shift_Ins_p.P80fs|ETV1_uc021zzw.1_Frame_Shift_Ins_p.P98fs|ETV1_uc021zzx.1_Intron|ETV1_uc021zzy.1_Frame_Shift_Ins_p.P80fs|ETV1_uc022aaa.1_Frame_Shift_Ins_p.P120fs|ETV1_uc022aab.1_Frame_Shift_Ins_p.P138fs|ETV1_uc003ssw.4_Frame_Shift_Ins_p.P138fs|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Frame_Shift_Ins_p.P120fs|ETV1_uc022aad.1_Frame_Shift_Ins_p.P120fs|ETV1_uc010ktv.3_Frame_Shift_Ins_p.P7fs	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	138					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGGATGGTGTGGGGGGGTTGG	0.53			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								G	13975474	-	G	13975473	7	5	131	1	0	1	1	0	0	0	0	0	5277	1335	47	0	1047	0	ETV1	7	13975473	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	7519186	13975473	145163190	765	76940											
HDAC9	9734	broad.mit.edu	37	chr7	18688172	18688172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtacccacaaattgcccCgtcacagacccctgaaccga	8	16	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:18688172C>T	uc003suh.2	+	10	1365	c.1324C>T	c.(1324-1326)CGT>TGT	p.R442C	HDAC9_uc003sue.2_Missense_Mutation_p.R442C|HDAC9_uc011jyd.1_Missense_Mutation_p.R442C|HDAC9_uc003sui.2_Missense_Mutation_p.R445C|HDAC9_uc003suj.2_Missense_Mutation_p.R401C|HDAC9_uc011jya.1_Missense_Mutation_p.R439C|HDAC9_uc003sua.1_Missense_Mutation_p.R420C|HDAC9_uc011jyb.1_Missense_Mutation_p.R398C|HDAC9_uc003sud.1_Missense_Mutation_p.R442C|HDAC9_uc011jyc.1_Missense_Mutation_p.R401C|HDAC9_uc003suf.1_Missense_Mutation_p.R473C|HDAC9_uc010kud.1_Missense_Mutation_p.R445C|HDAC9_uc011jye.1_Missense_Mutation_p.R414C|HDAC9_uc011jyf.1_Missense_Mutation_p.R365C|HDAC9_uc010kue.1_Missense_Mutation_p.R185C	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	442					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	CAAATTGCCCCGTCACAGACC	0.488													T	18688172	C	T	18688172	3	4	131	1	0	0	0	0	1	0	0	0	7014	652	23	1	1371	1	HDAC9	7	18688172	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4712699	18688172	140450491	766	76941											
MACC1	346389	broad.mit.edu	37	chr7	20197933	20197933	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgattctttgtctgcttgaAtttgatcaaaatcttccagg	7	8	4	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:20197933A>T	uc003sus.3	-	5	2360	c.2051T>A	c.(2050-2052)ATT>AAT	p.I684N	MACC1_uc010kug.2_Missense_Mutation_p.I684N	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	684					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3						GTCTGCTTGAATTTGATCAAA	0.348													T	20197933	A	T	20197933	3	4	131	1	0	0	0	0	1	0	0	0	9143	101	4	5	519	5	MACC1	7	20197933	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1509761	20197933	138940730	767	76942											
SP4	6671	broad.mit.edu	37	chr7	21469089	21469089	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacttgctggaaacgcttgGcaacttgttgcctccactcc	8	14	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:21469089G>A	uc003sva.2	+	3	487	c.306G>A	c.(304-306)TGG>TGA	p.W102*	SP4_uc003svb.2_5'UTR	NM_003112	NP_003103	Q02446	SP4_HUMAN	Sp4 transcription factor	102					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(3)|skin(2)	5						GAAACGCTTGGCAACTTGTTG	0.428													A	21469089	G	A	21469089	4	1	131	1	0	0	0	0	0	1	0	0	14966	1212	42	2	316	2	SP4	7	21469089	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1271156	21469089	137669574	768	76943											
GPNMB	10457	broad.mit.edu	37	chr7	23300296	23300296	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacgtatgtgctcaatggaAccttcagccttaacctcact	6	13	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:23300296A>G	uc003swc.2	+	6	1083	c.922A>G	c.(922-924)ACC>GCC	p.T308A	GPNMB_uc003swb.2_Missense_Mutation_p.T308A|GPNMB_uc011jyy.1_Missense_Mutation_p.T250A|GPNMB_uc011jyz.1_Missense_Mutation_p.T209A	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	308	PKD.|Extracellular (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)			GCTCAATGGAACCTTCAGCCT	0.483													G	23300296	A	G	23300296	3	3	131	1	0	0	0	0	1	0	0	0	6620	43	2	3	944	3	GPNMB	7	23300296	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1831207	23300296	135838367	769	76944											
HOXA2	3199	broad.mit.edu	37	chr7	27140390	27140390	+	Frame_Shift_Del	DEL	A	A	-													attgtggtgagtgtgtctgtAaaaaagtctaagctgtcagc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:27140390delA	uc003syh.2	-	2	1361	c.1086delT	c.(1084-1086)TTTfs	p.F362fs		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	362						nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						GTGTGTCTGTAAAAAAGTCTA	0.438													-	27140390	A	-	27140390	7	5	131	1	0	1	0	1	0	0	0	0	7292	359	13	0	48	0	HOXA2	7	27140390	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	3840094	27140390	131998273	770	76945											
GHRHR	2692	broad.mit.edu	37	chr7	31013640	31013640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgcctcccatttcgccaCcatgaccaacttcagctggc	8	18	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:31013640C>T	uc003tbx.2	+	7	686	c.638C>T	c.(637-639)ACC>ATC	p.T213I	GHRHR_uc003tbw.1_Missense_Mutation_p.T213I|GHRHR_uc003tby.2_Missense_Mutation_p.T149I|GHRHR_uc003tbz.2_Intron	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	213	Helical; Name=3; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			ovary(2)|lung(1)|breast(1)|large_intestine(1)	5					Sermorelin(DB00010)	CATTTCGCCACCATGACCAAC	0.622													T	31013640	C	T	31013640	3	4	131	1	0	0	0	0	1	0	0	0	6373	507	18	4	664	4	GHRHR	7	31013640	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3873250	31013640	128125023	771	76946											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31104447	31104448	+	Frame_Shift_Ins	INS	-	-	C													atcctgtgttctcctacaggINScccctgccatgcattctgac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:31104447_31104448insC	uc003tca.1	+	3	275_276	c.52_53insC	c.(52-54)GCCfs	p.A18fs	ADCYAP1R1_uc003tcb.1_Frame_Shift_Ins_p.A18fs|ADCYAP1R1_uc003tcc.1_Frame_Shift_Ins_p.A18fs|ADCYAP1R1_uc003tcd.1_Frame_Shift_Ins_p.A18fs|ADCYAP1R1_uc003tce.1_Frame_Shift_Ins_p.A18fs	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	18					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1						TCTCCTACAGGCCCCTGCCATG	0.569													C	31104448	-	C	31104447	7	5	131	1	0	1	1	0	0	0	0	0	303	1217	42	0	58	0	ADCYAP1R1	7	31104447	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	90807	31104447	128034216	772	76947	362	2									
ADCYAP1R1	117	broad.mit.edu	37	chr7	31104448	31104449	+	Splice_Site	INS	-	-	C													tcctgtgttctcctacaggcINSccctgccatgcattctgact							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:31104447_31104448G>GC	uc003tca.2	+	3	341	c.52_splice	c.e3-1	p.A18_splice	ADCYAP1R1_uc003tcg.3_Splice_Site_p.A18_splice|ADCYAP1R1_uc003tce.2_Splice_Site_p.A18_splice|ADCYAP1R1_uc003tcb.2_Splice_Site_p.A18_splice|ADCYAP1R1_uc003tcc.2_Splice_Site_p.A18_splice	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	18					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TCTCCTACAGGCCCCTGCCATG	0.569													C	31104449	-	C	31104448	8	5	131	1	0	1	1	0	0	0	1	0	303	753	26	0	59	0	ADCYAP1R1	7	31104448	Splice_Site	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	31104448	128034215	773	76948	362	2									
GLI3	2737	broad.mit.edu	37	chr7	42005852	42005852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcaggggcgtcggcggcGgccctcctgtggcagccgcg	20	14	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:42005852G>A	uc011kbh.1	-	15	2910	c.2819C>T	c.(2818-2820)CCG>CTG	p.P940L	GLI3_uc011kbg.1_Missense_Mutation_p.P881L	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	940					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P940T(1)		lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CGTCGGCGGCGGCCCTCCTGT	0.711									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42005852	G	A	42005852	3	1	131	1	0	0	0	0	1	0	0	0	6439	1116	39	1	1927	1	GLI3	7	42005852	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	10901404	42005852	117132811	774	76949											
HECW1	23072	broad.mit.edu	37	chr7	43503275	43503275	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggtatcaaaacattcagCgaaccattgcaacagagagg	9	8	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:43503275C>T	uc003tid.1	+	14	3273	c.2668C>T	c.(2668-2670)CGA>TGA	p.R890*	HECW1_uc011kbi.1_Nonsense_Mutation_p.R856*	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	890	Potential.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						AAACATTCAGCGAACCATTGC	0.488													T	43503275	C	T	43503275	4	4	131	1	0	0	0	0	0	1	0	0	7042	760	27	1	2714	1	HECW1	7	43503275	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1497423	43503275	115635388	775	76950											
URGCP	55665	broad.mit.edu	37	chr7	43916923	43916923	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggcaaaccgcagcccAaacatggtgttgaggagtgt	13	10	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:43916923A>G	uc003tiw.2	-	6	2196	c.2139T>C	c.(2137-2139)TTT>TTC	p.F713F	URGCP_uc003tiu.2_Silent_p.F670F|URGCP_uc003tiv.2_Silent_p.F638F|URGCP_uc003tix.2_Silent_p.F704F|URGCP_uc003tiy.2_Silent_p.F670F|URGCP_uc003tiz.2_Silent_p.F670F|URGCP_uc011kbj.1_Silent_p.F670F	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	713					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						ACCGCAGCCCAAACATGGTGT	0.627													G	43916923	A	G	43916923	2	3	131	1	0	0	0	0	0	0	0	1	17023	127	5	3		3	URGCP	7	43916923	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	413648	43916923	115221740	776	76951											
PGAM2	5224	broad.mit.edu	37	chr7	44105054	44105054	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactcagctctgcatcgaaCcagccacagaaacggttctc	7	15	4	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:44105054C>T	uc003tjs.2	-	1	110	c.75G>A	c.(73-75)TGG>TGA	p.W25*		NM_000290	NP_000281	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2	25					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity				0						CTGCATCGAACCAGCCACAGA	0.597													T	44105054	C	T	44105054	4	4	131	1	0	0	0	0	0	1	0	0	11774	508	18	4	698	4	PGAM2	7	44105054	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	188131	44105054	115033609	777	76952											
GCK	2645	broad.mit.edu	37	chr7	44186118	44186118	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgtgtgcgcagctgctcGgaggcctccccgtggaagag	16	14	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:44186118G>A	uc003tkl.2	-	8	1433	c.963C>T	c.(961-963)TCC>TCT	p.S321S	GCK_uc003tkh.1_5'Flank|GCK_uc003tki.1_5'Flank|GCK_uc003tkj.1_Silent_p.S320S|GCK_uc003tkk.1_Silent_p.S322S	NM_000162	NP_000153	P35557	HXK4_HUMAN	glucokinase isoform 1	321					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			skin(3)|lung(1)	4						GCAGCTGCTCGGAGGCCTCCC	0.647													A	44186118	G	A	44186118	2	1	131	1	0	0	0	0	0	0	0	1	6293	1103	39	1		1	GCK	7	44186118	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	81064	44186118	114952545	778	76953											
GCK	2645	broad.mit.edu	37	chr7	44193002	44193002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccatctccttctgcatccGtctcatcaccttcttcaggt	5	16	6	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:44193002G>A	uc003tkl.2	-	2	576	c.106C>T	c.(106-108)CGG>TGG	p.R36W	GCK_uc003tkj.1_Missense_Mutation_p.R35W|GCK_uc003tkk.1_Missense_Mutation_p.R37W	NM_000162	NP_000153	P35557	HXK4_HUMAN	glucokinase isoform 1	36			R -> W (in MODY2).		cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			skin(3)|lung(1)	4						TTCTGCATCCGTCTCATCACC	0.627													A	44193002	G	A	44193002	3	1	131	1	0	0	0	0	1	0	0	0	6293	1144	40	1	1327	1	GCK	7	44193002	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	6884	44193002	114945661	779	76954											
NPC1L1	29881	broad.mit.edu	37	chr7	44578499	44578499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggctgtgagcagcaggagCgtgcggttgttctggaaata	16	6	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:44578499C>T	uc003tlb.2	-	2	1553	c.1497G>A	c.(1495-1497)ACG>ACA	p.T499T	NPC1L1_uc003tlc.2_Silent_p.T499T|NPC1L1_uc011kbw.1_Silent_p.T499T|NPC1L1_uc003tld.2_Silent_p.T499T	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	499	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	GCAGCAGGAGCGTGCGGTTGT	0.567													T	44578499	C	T	44578499	2	4	131	1	0	0	0	0	0	0	0	1	10571	755	27	1		1	NPC1L1	7	44578499	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	385497	44578499	114560164	780	76955											
MYO1G	64005	broad.mit.edu	37	chr7	45010276	45010276	+	Frame_Shift_Del	DEL	G	G	-													acgccgaggatcccggccccGgggttccatgacactgttga							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:45010276delG	uc003tmh.2	-	9	1276	c.1132delC	c.(1132-1134)CGGfs	p.R378fs	MYO1G_uc003tmf.2_5'Flank|MYO1G_uc003tmg.2_Frame_Shift_Del_p.R140fs|MYO1G_uc010kym.2_Frame_Shift_Del_p.R263fs|MYO1G_uc003tmi.1_Frame_Shift_Del_p.R290fs|MYO1G_uc003tmj.2_Frame_Shift_Del_p.R140fs	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	myosin IG	378	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|ovary(1)|pancreas(1)	4						TCCCGGCCCCGGGGTTCCATG	0.607													-	45010276	G	-	45010276	7	5	131	1	0	1	0	1	0	0	0	0	10074	1115	39	0	1980	0	MYO1G	7	45010276	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	431777	45010276	114128387	781	76956											
IGFBP1	3484	broad.mit.edu	37	chr7	45928424	45928424	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacccggtccgccggctgcgGctgttgcccgatgtgcgccc	14	18	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:45928424G>T	uc003tnp.2	+	1	466	c.173G>T	c.(172-174)GGC>GTC	p.G58V	IGFBP1_uc003tno.3_Missense_Mutation_p.G58V|IGFBP1_uc010kyn.2_Missense_Mutation_p.G58V	NM_000596	NP_000587	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	58	IGFBP N-terminal.					extracellular space	insulin-like growth factor binding			lung(1)	1						GCCGGCTGCGGCTGTTGCCCG	0.776													T	45928424	G	T	45928424	3	4	131	1	0	0	0	0	1	0	0	0	7578	1203	42	5	175	5	IGFBP1	7	45928424	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	918148	45928424	113210239	782	76957											
EGFR	1956	broad.mit.edu	37	chr7	55238900	55238900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcttgaaggctgtccaaCgaatgggtaagtgttcacag	13	7	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:55238900C>T	uc003tqk.2	+	16	2159	c.1913C>T	c.(1912-1914)ACG>ATG	p.T638M	EGFR_uc010kzg.1_Missense_Mutation_p.T593M|EGFR_uc011kco.1_Missense_Mutation_p.T585M|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	638	Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGCTGTCCAACGAATGGGTAA	0.438		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55238900	C	T	55238900	3	4	131	1	0	0	0	0	1	0	0	0	4967	536	19	1	2239	1	EGFR	7	55238900	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	9310476	55238900	103899763	783	76958											
WBSCR17	64409	broad.mit.edu	37	chr7	70597962	70597962	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgcgcacagcgccagcccCatccaggatgcggtcctgaa	12	16	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:70597962C>A	uc003tvy.2	+	1	174	c.174C>A	c.(172-174)CCC>CCA	p.P58P		NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	58	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCGCCAGCCCCATCCAGGATG	0.711													A	70597962	C	A	70597962	2	1	131	1	0	0	0	0	0	0	0	1	17261	581	21	5		5	WBSCR17	7	70597962	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	15359062	70597962	88540701	784	76959											
STX1A	6804	broad.mit.edu	37	chr7	73118587	73118587	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctggacagcgtggagtgCtgggggcccgagatggaggt	19	7	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:73118587C>T	uc003tyx.2	-	6	385	c.358_splice	c.e6-1	p.H120_splice	WBSCR22_uc003tyw.1_3'UTR|STX1A_uc003tyy.2_Splice_Site_p.H120_splice|STX1A_uc010lbj.1_Splice_Site_p.H120_splice	NM_004603	NP_004594	Q16623	STX1A_HUMAN	syntaxin 1A isoform 1						energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				GCGTGGAGTGCTGGGGGCCCG	0.657													T	73118587	C	T	73118587	5	4	131	1	0	0	0	0	0	0	1	0	15342	811	28	2	529	2	STX1A	7	73118587	Splice_Site	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2520625	73118587	86020076	785	76960											
CLDN3	1365	broad.mit.edu	37	chr7	73184217	73184217	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catctggccggtgctctgcaCcacgcagttcatccacaggc	10	16	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:73184217C>G	uc003tzg.3	-	1	384	c.163G>C	c.(163-165)GTG>CTG	p.V55L	RFC2_uc011kfa.1_Intron	NM_001306	NP_001297	O15551	CLD3_HUMAN	claudin 3	55	Extracellular (Potential).				response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity				0		Lung NSC(55;0.159)				GTGCTCTGCACCACGCAGTTC	0.642													G	73184217	C	G	73184217	3	3	131	1	0	0	0	0	1	0	0	0	3486	507	18	5	503	5	CLDN3	7	73184217	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	65630	73184217	85954446	786	76961											
ELN	2006	broad.mit.edu	37	chr7	73480300	73480300	+	Frame_Shift_Del	DEL	G	G	-													ctggccttggaggtgtcctaGggggtgccgggcagttccca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:73480300delG	uc003tzw.2	+	31	2168	c.2077delG	c.(2077-2079)GGGfs	p.G693fs	RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Frame_Shift_Del_p.G687fs|ELN_uc003tzz.2_Frame_Shift_Del_p.G606fs|ELN_uc003tzo.2_Intron|ELN_uc003tzp.2_Intron|ELN_uc003tzq.2_Intron|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Frame_Shift_Del_p.G668fs|ELN_uc003tzt.2_Intron|ELN_uc003tzu.2_Intron|ELN_uc003tzv.2_Intron|ELN_uc003tzx.2_Frame_Shift_Del_p.G677fs|ELN_uc011kff.1_Intron|ELN_uc003tzy.2_Frame_Shift_Del_p.G663fs	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	749					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)	AGGTGTCCTAGGGGGTGCCGG	0.617			T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome						-	73480300	G	-	73480300	7	5	131	1	0	1	0	1	0	0	0	0	5071	1000	35	0	2196	0	ELN	7	73480300	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	296083	73480300	85658363	787	76962											
LIMK1	3984	broad.mit.edu	37	chr7	73535598	73535598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctaccggcgcggcgagagCggactgcctgcccaccctga	13	17	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:73535598C>T	uc003uaa.1	+	16	2076	c.1911C>T	c.(1909-1911)AGC>AGT	p.S637S	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Silent_p.S603S	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	637					actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			stomach(2)|ovary(1)	3		Lung NSC(55;0.137)				GCGGCGAGAGCGGACTGCCTG	0.692													T	73535598	C	T	73535598	2	4	131	1	0	0	0	0	0	0	0	1	8801	767	27	1		1	LIMK1	7	73535598	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	55298	73535598	85603065	788	76963											
CLIP2	7461	broad.mit.edu	37	chr7	73753186	73753186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgcattcgggcacggccaCgcccccgctgaccagccgcg	12	18	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:73753186C>T	uc003uam.2	+	3	857	c.530C>T	c.(529-531)ACG>ATG	p.T177M	CLIP2_uc003uan.2_Missense_Mutation_p.T177M	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	177						microtubule associated complex				skin(3)	3						GGCACGGCCACGCCCCCGCTG	0.672													T	73753186	C	T	73753186	3	4	131	1	0	0	0	0	1	0	0	0	3533	536	19	1	536	1	CLIP2	7	73753186	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	217588	73753186	85385477	789	76964											
POM121C	100101267	broad.mit.edu	37	chr7	75070845	75070845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactgtgggaagtacccccGgacaggaatactgggtctga	13	10	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:75070845G>A	uc010lde.1	-	2	656	c.656C>T	c.(655-657)CCG>CTG	p.P219L	POM121C_uc003udk.3_5'UTR|POM121C_uc003udl.1_RNA			A8CG34	P121C_HUMAN	Homo sapiens POM121-2 mRNA for nuclear pore membrane protein 121-2, partial cds.	219	Required for targeting to the nucleus and nuclear pore complex.|Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding				0						AAGTACCCCCGGACAGGAATA	0.527													A	75070845	G	A	75070845	3	1	131	1	0	0	0	0	1	0	0	0	12240	1131	39	1		1	POM121C	7	75070845	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1317659	75070845	84067818	790	76965											
RHBDD2	57414	broad.mit.edu	37	chr7	75511493	75511493	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctcctgctgggtgcctcGtggctcattccccagacctc	11	16	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:75511493G>A	uc003udw.1	+	2	609	c.525G>A	c.(523-525)TCG>TCA	p.S175S	RHBDD2_uc003udv.1_Silent_p.S34S	NM_001040456	NP_001035546	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2 isoform a	175	Helical; (Potential).					integral to membrane	serine-type endopeptidase activity				0						TGGGTGCCTCGTGGCTCATTC	0.597													A	75511493	G	A	75511493	2	1	131	1	0	0	0	0	0	0	0	1	13317	1132	40	1		1	RHBDD2	7	75511493	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	440648	75511493	83627170	791	76966											
SEMA3E	9723	broad.mit.edu	37	chr7	83029431	83029431	+	Frame_Shift_Del	DEL	T	T	-													caggttatattttccatctgTttttaccaatattggttttt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:83029431delT	uc003uhy.1	-	11	1745	c.1279delA	c.(1279-1281)ACAfs	p.T427fs		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	427	Sema.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				TTTCCATCTGTTTTTACCAAT	0.413													-	83029431	T	-	83029431	7	5	131	1	0	1	0	1	0	0	0	0	14028	1725	60	0	1076	0	SEMA3E	7	83029431	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	7517938	83029431	76109232	792	76967											
GRM3	2913	broad.mit.edu	37	chr7	86469103	86469103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgtacgccttcaaaaCgcggaagtgcccagaaaatt	9	11	1	1	rs141671463		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:86469103C>T	uc003uid.2	+	4	3372	c.2273C>T	c.(2272-2274)ACG>ATG	p.T758M	GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.T630M|GRM3_uc010leh.2_Missense_Mutation_p.T350M	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	758	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane		p.T758M(1)		lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCCTTCAAAACGCGGAAGTGC	0.428													T	86469103	C	T	86469103	3	4	131	1	0	0	0	0	1	0	0	0	6798	536	19	1	2283	1	GRM3	7	86469103	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3439672	86469103	72669560	793	76968											
KIAA1324L	222223	broad.mit.edu	37	chr7	86542523	86542523	+	Splice_Site	DEL	A	A	-													attgatgaaccgtctattctAaaaaaaagagcataaagtaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:86542522_86542522TA>T	uc011kha.2	-	14	1917	c.1732_splice	c.e14-1	p.N578_splice	KIAA1324L_uc003uie.3_Splice_Site_p.N411_splice|KIAA1324L_uc011kgz.2_Splice_Site_p.N464_splice|KIAA1324L_uc003uif.2_Splice_Site_p.N330_splice	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	578						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCGTCTATTCTAAAAAAAAGA	0.413													-	86542523	A	-	86542523	8	5	131	1	0	1	0	1	0	0	1	0	8224	377	13	0		0	KIAA1324L	7	86542523	Splice_Site	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	73420	86542523	72596140	794	76969											
ABCB4	5244	broad.mit.edu	37	chr7	87092178	87092178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgagctatggccatgatgGtacccagcgacataaacaat	10	10	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:87092178G>A	uc003uiv.1	-	4	258	c.182C>T	c.(181-183)ACC>ATC	p.T61I	ABCB4_uc003uiw.1_Missense_Mutation_p.T61I|ABCB4_uc003uix.1_Missense_Mutation_p.T61I|ABCB4_uc003uiy.2_Missense_Mutation_p.T61I	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	61	ABC transmembrane type-1 1.|Helical; (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GGCCATGATGGTACCCAGCGA	0.398													A	87092178	G	A	87092178	3	1	131	1	0	0	0	0	1	0	0	0	43	1261	44	4	3778	4	ABCB4	7	87092178	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	549655	87092178	72046485	795	76970											
ABCB1	5243	broad.mit.edu	37	chr7	87150160	87150160	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgagtcaaagaaacaacGgttcggaagttttctattgc	9	8	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:87150160G>A	uc003uiz.1	-	23	3136	c.2718C>T	c.(2716-2718)ACC>ACT	p.T906T	ABCB1_uc011khc.1_Silent_p.T842T	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	906	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AAGAAACAACGGTTCGGAAGT	0.418													A	87150160	G	A	87150160	2	1	131	1	0	0	0	0	0	0	0	1	40	1103	39	1		1	ABCB1	7	87150160	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	57982	87150160	71988503	796	76971											
AKAP9	10142	broad.mit.edu	37	chr7	91708607	91708607	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagacagtttaaaacatcAattggatgtggttatagctg	10	5	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:91708607A>G	uc003ulg.2	+	31	7385	c.7160A>G	c.(7159-7161)CAA>CGA	p.Q2387R	AKAP9_uc003ulf.2_Missense_Mutation_p.Q2379R|AKAP9_uc003uli.2_Missense_Mutation_p.Q2010R|AKAP9_uc003ulj.2_Missense_Mutation_p.Q157R	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2399	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTAAAACATCAATTGGATGTG	0.368			T	BRAF	papillary thyroid								G	91708607	A	G	91708607	3	3	131	1	0	0	0	0	1	0	0	0	459	130	5	3	7282	3	AKAP9	7	91708607	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	4558447	91708607	67430056	797	76972											
AKAP9	10142	broad.mit.edu	37	chr7	91712892	91712892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaaccttaaagagggaaCactatgttgccgttcagtta	9	8	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:91712892C>T	uc003ulg.2	+	33	8794	c.8569C>T	c.(8569-8571)CAC>TAC	p.H2857Y	AKAP9_uc003ulf.2_Missense_Mutation_p.H2849Y|AKAP9_uc003uli.2_Missense_Mutation_p.H2480Y|AKAP9_uc003ulj.2_Missense_Mutation_p.H627Y|AKAP9_uc003ulk.2_Missense_Mutation_p.H132Y	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2869					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAGAGGGAACACTATGTTGC	0.368			T	BRAF	papillary thyroid								T	91712892	C	T	91712892	3	4	131	1	0	0	0	0	1	0	0	0	459	478	17	4	8699	4	AKAP9	7	91712892	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4285	91712892	67425771	798	76973											
ANKIB1	54467	broad.mit.edu	37	chr7	91936795	91936795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccttcatcctcgcttggCacgccccacagaagatgatt	8	15	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:91936795C>T	uc003ulw.2	+	3	687	c.311C>T	c.(310-312)GCA>GTA	p.A104V		NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	104							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCTCGCTTGGCACGCCCCACA	0.423													T	91936795	C	T	91936795	3	4	131	1	0	0	0	0	1	0	0	0	630	710	25	2	317	2	ANKIB1	7	91936795	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	223903	91936795	67201868	799	76974											
PEG10	23089	broad.mit.edu	37	chr7	94293052	94293052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgatgacatcgagctcCgcggtgctgcagcagctgct	14	11	0	2	rs147863226	by1000genomes	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:94293052C>T	uc011kie.1	+	2	629	c.412C>T	c.(412-414)CGC>TGC	p.R138C		NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	paternally expressed 10 isoform RF1	62					apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CATCGAGCTCCGCGGTGCTGC	0.597													T	94293052	C	T	94293052	3	4	131	1	0	0	0	0	1	0	0	0	11719	652	23	1	418	1	PEG10	7	94293052	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2356257	94293052	64845611	800	76975											
DLX5	1749	broad.mit.edu	37	chr7	96650268	96650268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaccgctggagactgcggcGagttacacgccattgggtcg	14	12	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:96650268G>A	uc003uon.2	-	3	858	c.650C>T	c.(649-651)TCG>TTG	p.S217L		NM_005221	NP_005212	P56178	DLX5_HUMAN	distal-less homeobox 5	217					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					AGACTGCGGCGAGTTACACGC	0.617													A	96650268	G	A	96650268	3	1	131	1	0	0	0	0	1	0	0	0	4574	1059	37	1	223	1	DLX5	7	96650268	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2357216	96650268	62488395	801	76976											
LMTK2	22853	broad.mit.edu	37	chr7	97800879	97800879	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaggcgtatctgcgcagCgagcaggagcacatgcgggg	17	10	1	1	rs138179178		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:97800879C>T	uc003upd.1	+	7	977	c.684C>T	c.(682-684)AGC>AGT	p.S228S		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	228	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ATCTGCGCAGCGAGCAGGAGC	0.607													T	97800879	C	T	97800879	2	4	131	1	0	0	0	0	0	0	0	1	8859	767	27	1		1	LMTK2	7	97800879	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1150611	97800879	61337784	802	76977											
TECPR1	25851	broad.mit.edu	37	chr7	97850995	97850995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcatccagggcatacacCgacgtctgccccgcggacac	9	17	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:97850995C>T	uc003upg.2	-	23	3340	c.3135G>A	c.(3133-3135)TCG>TCA	p.S1045S		NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	1045	TECPR 8.					integral to membrane	protein binding			pancreas(1)	1						GGGCATACACCGACGTCTGCC	0.423													T	97850995	C	T	97850995	2	4	131	1	0	0	0	0	0	0	0	1	15740	639	23	1		1	TECPR1	7	97850995	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	50116	97850995	61287668	803	76978											
TRRAP	8295	broad.mit.edu	37	chr7	98490105	98490105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaaccaacgaacatcttcGtcctcacacaaaaaatgttt	3	13	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:98490105G>A	uc003upp.2	+	5	529	c.320G>A	c.(319-321)CGT>CAT	p.R107H	TRRAP_uc011kis.1_Missense_Mutation_p.R107H	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	107					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAACATCTTCGTCCTCACACA	0.333													A	98490105	G	A	98490105	3	1	131	1	0	0	0	0	1	0	0	0	16598	1145	40	1	334	1	TRRAP	7	98490105	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	639110	98490105	60648558	804	76979											
SMURF1	57154	broad.mit.edu	37	chr7	98636091	98636091	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatgctgcaggatccgcccGaaggcgttgtgttccacgca	12	13	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:98636091G>A	uc003upu.1	-	15	2006	c.1686C>T	c.(1684-1686)TTC>TTT	p.F562F	SMURF1_uc003upv.1_Silent_p.F536F|SMURF1_uc003upt.2_Silent_p.F536F	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	562	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GGATCCGCCCGAAGGCGTTGT	0.507													A	98636091	G	A	98636091	2	1	131	1	0	0	0	0	0	0	0	1	14819	1049	37	1		1	SMURF1	7	98636091	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	145986	98636091	60502572	805	76980											
SMURF1	57154	broad.mit.edu	37	chr7	98655069	98655069	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttttaatctgctgatggcAttggagagcagccgcacaca	10	10	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:98655069A>C	uc003upu.1	-	4	629	c.309T>G	c.(307-309)AAT>AAG	p.N103K	SMURF1_uc003upv.1_Missense_Mutation_p.N103K|SMURF1_uc003upt.2_Missense_Mutation_p.N103K	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	103					BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TGCTGATGGCATTGGAGAGCA	0.443													C	98655069	A	C	98655069	3	2	131	1	0	0	0	0	1	0	0	0	14819	214	8	5	2028	5	SMURF1	7	98655069	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	18978	98655069	60483594	806	76981											
COPS6	10980	broad.mit.edu	37	chr7	99688088	99688088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggggggccacctgacccctCggacatccacgtccataagc	11	16	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:99688088C>T	uc003usu.2	+	4	432	c.401C>T	c.(400-402)TCG>TTG	p.S134L		NM_006833	NP_006824	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	134	MPN.				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CCTGACCCCTCGGACATCCAC	0.532													T	99688088	C	T	99688088	3	4	131	1	0	0	0	0	1	0	0	0	3737	893	31	1	415	1	COPS6	7	99688088	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1033019	99688088	59450575	807	76982											
EPHB4	2050	broad.mit.edu	37	chr7	100405135	100405135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcatctcggcaaggtacCgcatgcccgaggcgatgccc	12	15	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:100405135C>T	uc003uwn.1	-	13	2677	c.2186G>A	c.(2185-2187)CGG>CAG	p.R729Q	EPHB4_uc003uwm.1_Missense_Mutation_p.R636Q|EPHB4_uc010lhj.1_Missense_Mutation_p.R729Q	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	729	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCAAGGTACCGCATGCCCGA	0.592													T	100405135	C	T	100405135	3	4	131	1	0	0	0	0	1	0	0	0	5177	652	23	1	797	1	EPHB4	7	100405135	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	717047	100405135	58733528	808	76983											
AP1S1	1174	broad.mit.edu	37	chr7	100802405	100802406	+	Frame_Shift_Ins	INS	-	-	G													tcctggatgagtttttgatgINSgggggggatgtccaggacac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:100802404_100802405T>TG	uc003uxv.4	+	3	466_467	c.356_357T>TG	c.(355-357)atgfs	p.M119fs	MIR4653_uc022aiy.1_5'Flank	NM_001283	NP_001274	P61966	AP1S1_HUMAN	Homo sapiens adaptor-related protein complex 1, sigma 1 subunit (AP1S1), mRNA.	119					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564													G	100802406	-	G	100802405	7	5	131	1	0	1	1	0	0	0	0	0	736	1348	47	0	371	0	AP1S1	7	100802405	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	397270	100802405	58336258	809	76984											
EMID2	136227	broad.mit.edu	37	chr7	101196619	101196619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttagggtgaacctggcGtgaagggggaagaaggagag	18	5	1	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:101196619G>A	uc010lhy.1	+	11	1228	c.1036G>A	c.(1036-1038)GTG>ATG	p.V346M	EMID2_uc003uyo.1_Missense_Mutation_p.V348M	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	EMI domain containing 2	348	Collagen-like 2.					collagen				ovary(1)	1	Lung NSC(181;0.215)					TGAACCTGGCGTGAAGGGGGA	0.617													A	101196619	G	A	101196619	3	1	131	1	0	0	0	0	1	0	0	0	5092	1145	40	1	1078	1	EMID2	7	101196619	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	394214	101196619	57942044	810	76985											
ORAI2	80228	broad.mit.edu	37	chr7	102087230	102087230	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tactcttcctggccgaggtgGtgctgctctgctggatcaag	13	11	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:102087230G>C	uc010lhz.1	+	4	731	c.496G>C	c.(496-498)GTG>CTG	p.V166L	ORAI2_uc003uzj.2_Missense_Mutation_p.V166L|ORAI2_uc003uzk.2_Missense_Mutation_p.V166L|ORAI2_uc011kks.1_Missense_Mutation_p.V89L	NM_001126340	NP_001119812	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator	166	Helical; (Potential).					integral to membrane	protein binding			ovary(1)|kidney(1)	2						GGCCGAGGTGGTGCTGCTCTG	0.682													C	102087230	G	C	102087230	3	2	131	1	0	0	0	0	1	0	0	0	11258	1261	44	5	502	5	ORAI2	7	102087230	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	890611	102087230	57051433	811	76986											
LRRC17	10234	broad.mit.edu	37	chr7	102575025	102575025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaaggaacaattggaccCgaaaccccaagtgtcaggga	11	9	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:102575025C>T	uc003vau.2	+	2	1054	c.665C>T	c.(664-666)CCG>CTG	p.P222L	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_Missense_Mutation_p.P222L	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17 isoform 1	222					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				ovary(1)	1						CAATTGGACCCGAAACCCCAA	0.423													T	102575025	C	T	102575025	3	4	131	1	0	0	0	0	1	0	0	0	8973	652	23	1	667	1	LRRC17	7	102575025	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	487795	102575025	56563638	812	76987											
PSMC2	5701	broad.mit.edu	37	chr7	103004703	103004703	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgctaatcggactgatgcGtgcttcattcgagttattgg	12	7	1	1	rs144680798		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:103004703G>A	uc003vbs.2	+	8	775	c.705G>A	c.(703-705)GCG>GCA	p.A235A	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Silent_p.A98A	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	235					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0						GGACTGATGCGTGCTTCATTC	0.468													A	103004703	G	A	103004703	2	1	131	1	0	0	0	0	0	0	0	1	12686	1132	40	1		1	PSMC2	7	103004703	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	429678	103004703	56133960	813	76988											
RELN	5649	broad.mit.edu	37	chr7	103185661	103185661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacatatacatttggttcCattgatacagctcccctgtc	6	12	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:103185661C>T	uc003vca.2	-	42	6593	c.6433G>A	c.(6433-6435)GGA>AGA	p.G2145R	RELN_uc010liz.2_Missense_Mutation_p.G2145R	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2145	EGF-like 5.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CATTTGGTTCCATTGATACAG	0.453													T	103185661	C	T	103185661	3	4	131	1	0	0	0	0	1	0	0	0	13220	603	21	4	4045	4	RELN	7	103185661	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	180958	103185661	55953002	814	76989											
RELN	5649	broad.mit.edu	37	chr7	103197465	103197465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgaatcttgtagcattgGtttgggcagtgtatggcaag	14	5	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:103197465G>A	uc003vca.2	-	38	5916	c.5756C>T	c.(5755-5757)ACC>ATC	p.T1919I	RELN_uc010liz.2_Missense_Mutation_p.T1919I	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1919					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGTAGCATTGGTTTGGGCAGT	0.393													A	103197465	G	A	103197465	3	1	131	1	0	0	0	0	1	0	0	0	13220	1261	44	4	4738	4	RELN	7	103197465	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	11804	103197465	55941198	815	76990											
PUS7	54517	broad.mit.edu	37	chr7	105121515	105121515	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaccttccaacctgatacgTagggacagctgtggttccaa	9	12	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:105121515T>C	uc003vcx.2	-	9	1378	c.1159A>G	c.(1159-1161)ACG>GCG	p.T387A	PUS7_uc010lji.2_Missense_Mutation_p.T393A|PUS7_uc003vcy.2_Missense_Mutation_p.T387A|PUS7_uc003vcz.1_Missense_Mutation_p.T387A	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog	387	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1						ACCTGATACGTAGGGACAGCT	0.363													C	105121515	T	C	105121515	3	2	131	1	0	0	0	0	1	0	0	0	12833	1638	57	3	858	3	PUS7	7	105121515	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1924050	105121515	54017148	816	76991											
ATXN7L1	222255	broad.mit.edu	37	chr7	105516905	105516905	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctccggactgggcactttgcGatccagtgtcgccattgctc	11	14	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:105516905G>T	uc003vde.2	-	1	127	c.100C>A	c.(100-102)CGC>AGC	p.R34S	ATXN7L1_uc003vdi.2_Missense_Mutation_p.R34S|CDHR3_uc003vdk.2_5'Flank|uc003vdj.1_5'Flank	NM_020725	NP_065776	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1 isoform 1	34											0						GGCACTTTGCGATCCAGTGTC	0.577													T	105516905	G	T	105516905	3	4	131	1	0	0	0	0	1	0	0	0	1216	1058	37	5	2626	5	ATXN7L1	7	105516905	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	395390	105516905	53621758	817	76992											
PIK3CG	5294	broad.mit.edu	37	chr7	106508275	106508275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggcggacttctaccaccGgctgggaccgcatcacttcc	12	16	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:106508275G>A	uc003vdv.3	+	2	354	c.269G>A	c.(268-270)CGG>CAG	p.R90Q	PIK3CG_uc003vdu.2_Missense_Mutation_p.R90Q|PIK3CG_uc003vdw.2_Missense_Mutation_p.R90Q	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	90					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.R90W(1)		lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						TTCTACCACCGGCTGGGACCG	0.642													A	106508275	G	A	106508275	3	1	131	1	0	0	0	0	1	0	0	0	11916	1116	39	1	271	1	PIK3CG	7	106508275	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	991370	106508275	52630388	818	76993											
LAMB1	3912	broad.mit.edu	37	chr7	107591745	107591745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcctccaaacccaggcAtgcactggcactgccccgtg	11	17	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:107591745A>G	uc003vew.2	-	24	3652	c.3317T>C	c.(3316-3318)ATG>ACG	p.M1106T	LAMB1_uc003vev.2_Missense_Mutation_p.M1130T	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	1106	Laminin EGF-like 12.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAACCCAGGCATGCACTGGCA	0.592													G	107591745	A	G	107591745	3	3	131	1	0	0	0	0	1	0	0	0	8610	217	8	3	2087	3	LAMB1	7	107591745	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1083470	107591745	51546918	819	76994											
NRCAM	4897	broad.mit.edu	37	chr7	107872810	107872810	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattagaaactgcagctccGcgttcgttccttgctgtaca	8	11	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:107872810G>A	uc003vfb.2	-	7	858	c.387C>T	c.(385-387)CGC>CGT	p.R129R	NRCAM_uc003vfc.2_Silent_p.R123R|NRCAM_uc011kmk.1_Silent_p.R124R|NRCAM_uc003vfd.2_Silent_p.R124R|NRCAM_uc003vfe.2_Silent_p.R124R	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	129	Ig-like 1.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						CTGCAGCTCCGCGTTCGTTCC	0.458													A	107872810	G	A	107872810	2	1	131	1	0	0	0	0	0	0	0	1	10644	1074	38	1		1	NRCAM	7	107872810	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	281065	107872810	51265853	820	76995											
WNT16	51384	broad.mit.edu	37	chr7	120971879	120971879	+	Frame_Shift_Del	DEL	G	G	-													agcaagtgaaggctggcactGggggggctgctccgatgatg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:120971878_120971878TG>T	uc003vjw.3	+	2	750	c.493_493TG>T	c.(493-495)tggfs	p.W165fs	WNT16_uc003vjv.3_Frame_Shift_Del_p.W155fs|WNT16_uc010lkl.3_Intron	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA.	165					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	p.C168fs*4(2)|p.H164P(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					AGGCTGGCACTGGGGGGGCTG	0.537													-	120971879	G	-	120971879	7	5	131	1	0	1	0	1	0	0	0	0	17382	1357	47	0	573	0	WNT16	7	120971879	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	13099069	120971879	38166784	821	76996											
IQUB	154865	broad.mit.edu	37	chr7	123142741	123142741	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatttgatacatatacaccAatgttagtcatctgtgtgga	7	6	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:123142741A>G	uc003vkn.2	-	6	1510	c.933T>C	c.(931-933)ATT>ATC	p.I311I	IQUB_uc003vko.2_Silent_p.I311I|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Silent_p.I311I|IQUB_uc003vkq.2_3'UTR	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	311										ovary(3)|large_intestine(1)	4						CATATACACCAATGTTAGTCA	0.323													G	123142741	A	G	123142741	2	3	131	1	0	0	0	0	0	0	0	1	7820	126	5	3		3	IQUB	7	123142741	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	2170862	123142741	35995922	822	76997											
SND1	27044	broad.mit.edu	37	chr7	127338982	127338982	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagagggcttagccaccCggagagaaggcatgagagct	15	9	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:127338982C>A	uc003vmi.2	+	4	629	c.403C>A	c.(403-405)CGG>AGG	p.R135R		NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	135	TNase-like 1.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						CTTAGCCACCCGGAGAGAAGG	0.463													A	127338982	C	A	127338982	2	1	131	1	0	0	0	0	0	0	0	1	14844	643	23	5		5	SND1	7	127338982	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4196241	127338982	31799681	823	76998											
LRRC4	64101	broad.mit.edu	37	chr7	127669747	127669747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aattggtgggtatatactctCgaagccaccaggctagccac	10	11	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:127669747C>T	uc003vmk.2	-	2	1084	c.947G>A	c.(946-948)CGA>CAA	p.R316Q	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	316	Extracellular (Potential).|LRRCT.					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		TATATACTCTCGAAGCCACCA	0.567													T	127669747	C	T	127669747	3	4	131	1	0	0	0	0	1	0	0	0	8997	884	31	1	1018	1	LRRC4	7	127669747	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	330765	127669747	31468916	824	76999											
LRRC4	64101	broad.mit.edu	37	chr7	127669830	127669830	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactccaccaggtacctcagCggggtaaagaggtcatgggg	14	10	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:127669830C>T	uc003vmk.2	-	2	1001	c.864G>A	c.(862-864)CCG>CCA	p.P288P	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	288	LRR 9.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		GGTACCTCAGCGGGGTAAAGA	0.517													T	127669830	C	T	127669830	2	4	131	1	0	0	0	0	0	0	0	1	8997	755	27	1		1	LRRC4	7	127669830	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	83	127669830	31468833	825	77000											
FAM71F1	84691	broad.mit.edu	37	chr7	128359088	128359088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaccctaggattcttgtcaCgcactgcctggtacccaaga	9	13	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:128359088C>T	uc003vno.1	+	3	691	c.638C>T	c.(637-639)ACG>ATG	p.T213M	FAM71F1_uc010llo.1_Missense_Mutation_p.T114M|FAM71F1_uc011koq.1_Missense_Mutation_p.T105M|FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.T114M|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Missense_Mutation_p.T213M	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	testes development-related NYD-SP18	213										skin(1)	1						ATTCTTGTCACGCACTGCCTG	0.537													T	128359088	C	T	128359088	3	4	131	1	0	0	0	0	1	0	0	0	5612	536	19	1	648	1	FAM71F1	7	128359088	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	689258	128359088	30779575	826	77001											
FLNC	2318	broad.mit.edu	37	chr7	128486812	128486812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcaggggagcgggcaccGggggccttggcctagccatc	16	14	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:128486812G>A	uc003vnz.3	+	24	4350	c.4141G>A	c.(4141-4143)GGG>AGG	p.G1381R	FLNC_uc003voa.3_Missense_Mutation_p.G1381R	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1381	Filamin 12.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						AGCGGGCACCGGGGGCCTTGG	0.587													A	128486812	G	A	128486812	3	1	131	1	0	0	0	0	1	0	0	0	5935	1116	39	1	4235	1	FLNC	7	128486812	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	127724	128486812	30651851	827	77002											
TSGA14	95681	broad.mit.edu	37	chr7	130052065	130052065	+	Frame_Shift_Del	DEL	T	T	-													agtctcttgaaaagctcatcTtttttgtatctataatctga							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:130052065delT	uc003vpz.2	-	4	209	c.162delA	c.(160-162)AAAfs	p.K54fs	TSGA14_uc010lmf.2_5'UTR|TSGA14_uc003vqa.2_Frame_Shift_Del_p.K54fs|TSGA14_uc011kpg.1_Frame_Shift_Del_p.K38fs	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN	testis specific, 14	54					G2/M transition of mitotic cell cycle	centrosome|cytosol					0	Melanoma(18;0.0435)					AAAGCTCATCTTTTTTGTATC	0.323													-	130052065	T	-	130052065	7	5	131	1	0	1	0	1	0	0	0	0	16617	1606	56	0	991	0	TSGA14	7	130052065	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	1565253	130052065	29086598	828	77003											
STRA8	346673	broad.mit.edu	37	chr7	134928082	134928082	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaactccccaatagcatcCttcaacctggaagatgggca	7	13	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:134928082C>A	uc011kpx.1	+	4	339	c.339C>A	c.(337-339)TCC>TCA	p.S113S		NM_182489	NP_872295	Q7Z7C7	STRA8_HUMAN	STRA8	113					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus					0						CAATAGCATCCTTCAACCTGG	0.512													A	134928082	C	A	134928082	2	1	131	1	0	0	0	0	0	0	0	1	15322	668	24	5		5	STRA8	7	134928082	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4876017	134928082	24210581	829	77004											
DGKI	9162	broad.mit.edu	37	chr7	137294333	137294333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttgttctcttcttcttcCgatttgaagccttcagggag	9	10	4	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:137294333C>T	uc003vtt.2	-	9	1017	c.1016G>A	c.(1015-1017)CGG>CAG	p.R339Q	DGKI_uc003vtu.2_Missense_Mutation_p.R39Q	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	339					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						CTTCTTCTTCCGATTTGAAGC	0.423													T	137294333	C	T	137294333	3	4	131	1	0	0	0	0	1	0	0	0	4471	652	23	1	2285	1	DGKI	7	137294333	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2366251	137294333	21844330	830	77005											
BRAF	673	broad.mit.edu	37	chr7	140534454	140534454	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagactctaacgataggtttTtgtggtgacttggggttgct	13	5	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:140534454T>C	uc003vwc.3	-	3	520	c.459A>G	c.(457-459)CAA>CAG	p.Q153Q		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	153					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	CGATAGGTTTTTGTGGTGACT	0.413		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				C	140534454	T	C	140534454	2	2	131	1	0	0	0	0	0	0	0	1	1496	1838	64	3		3	BRAF	7	140534454	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	3240121	140534454	18604209	831	77006											
SSBP1	6742	broad.mit.edu	37	chr7	141438980	141438980	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaagccatgtttcgaagacCtgtattacaggtagtcactt	9	8	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:141438980C>A	uc003vwo.1	+	2	92	c.14C>A	c.(13-15)CCT>CAT	p.P5H	FLJ40852_uc011krh.1_5'Flank|FLJ40852_uc010lnm.2_5'Flank|FLJ40852_uc010lnn.2_5'Flank|FLJ40852_uc003vwm.3_5'Flank|FLJ40852_uc010lno.2_5'Flank|SSBP1_uc011kri.1_Missense_Mutation_p.P5H|SSBP1_uc010lnp.1_Missense_Mutation_p.P5H	NM_003143	NP_003134	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1 precursor	5					DNA replication|positive regulation of helicase activity	mitochondrial nucleoid	single-stranded DNA binding			ovary(1)	1	Melanoma(164;0.0171)					TTTCGAAGACCTGTATTACAG	0.338													A	141438980	C	A	141438980	3	1	131	1	0	0	0	0	1	0	0	0	15178	681	24	5	16	5	SSBP1	7	141438980	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	904526	141438980	17699683	832	77007											
TAS2R40	259286	broad.mit.edu	37	chr7	142919509	142919509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaatctctggtttgctgCctggctcaaagtcttctatt	7	11	4	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:142919509C>T	uc011ksx.1	+	1	338	c.338C>T	c.(337-339)GCC>GTC	p.A113V		NM_176882	NP_795363	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	113	Helical; Name=3; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(1)	1	Melanoma(164;0.059)					TGGTTTGCTGCCTGGCTCAAA	0.393													T	142919509	C	T	142919509	3	4	131	1	0	0	0	0	1	0	0	0	15575	739	26	2	340	2	TAS2R40	7	142919509	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1480529	142919509	16219154	833	77008											
FAM115C	285966	broad.mit.edu	37	chr7	143400364	143400364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccctgtcctggggctcccGtgggagtgcatccatccctg	13	15	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:143400364G>A	uc003wdf.2	+	2	360	c.277G>A	c.(277-279)GTG>ATG	p.V93M	FAM115C_uc003wdg.2_Intron|FAM115C_uc011ktk.1_Intron|FAM115C_uc003wdh.2_Missense_Mutation_p.V93M|FAM115C_uc011ktm.1_Intron|uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron	NM_001130025	NP_001123497	A6NFQ2	F115C_HUMAN	hypothetical protein LOC285966 isoform A	93											0						TGGGGCTCCCGTGGGAGTGCA	0.582													A	143400364	G	A	143400364	3	1	131	1	0	0	0	0	1	0	0	0	5406	1145	40	1	279	1	FAM115C	7	143400364	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	480855	143400364	15738299	834	77009											
CNTNAP2	26047	broad.mit.edu	37	chr7	147183036	147183036	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctgacagatgtgtgccCaatcactgtgagcatggtgg	12	10	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:147183036C>T	uc003weu.1	+	11	2196	c.1680C>T	c.(1678-1680)CCC>CCT	p.P560P		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	560	EGF-like 1.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GATGTGTGCCCAATCACTGTG	0.453										HNSCC(39;0.1)			T	147183036	C	T	147183036	2	4	131	1	0	0	0	0	0	0	0	1	3647	581	21	4		4	CNTNAP2	7	147183036	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3782672	147183036	11955627	835	77010											
KRBA1	84626	broad.mit.edu	37	chr7	149430494	149430494	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggagaagctggatcggctCgccacagcgctggcaggcct	16	13	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:149430494C>T	uc003wfz.2	+	18	2850	c.2451C>T	c.(2449-2451)CTC>CTT	p.L817L	KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Silent_p.L424L	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	KRAB A domain containing 1	817	Potential.									ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGATCGGCTCGCCACAGCGC	0.692													T	149430494	C	T	149430494	2	4	131	1	0	0	0	0	0	0	0	1	8439	871	31	1		1	KRBA1	7	149430494	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2247458	149430494	9708169	836	77011											
SSPO	23145	broad.mit.edu	37	chr7	149485991	149485991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaccaggacgactgtggcGatggctctgatgaggagggt	16	8	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:149485991G>A	uc010lpk.2	+	29	4210	c.4210G>A	c.(4210-4212)GAT>AAT	p.D1404N		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1404	LDL-receptor class A 1.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGACTGTGGCGATGGCTCTGA	0.587													A	149485991	G	A	149485991	3	1	131	1	0	0	0	0	1	0	0	0	15188	1058	37	1	4320	1	SSPO	7	149485991	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	55497	149485991	9652672	837	77012											
GIMAP8	155038	broad.mit.edu	37	chr7	150164232	150164233	+	Frame_Shift_Ins	INS	-	-	A													ttgctgcaagatttcattgaINSaaaaaacaaacctctcaagc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:150164231_150164232G>GA	uc003whj.3	+	1	775_776	c.445_446G>GA	c.(445-447)gaafs	p.E149fs		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	149						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.E149K(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AGATTTCATTGAAAAAAACAAA	0.45													A	150164233	-	A	150164232	7	5	131	1	0	1	1	0	0	0	0	0	6385	246	9	0	448	0	GIMAP8	7	150164232	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	678241	150164232	8974431	838	77013											
ABP1	26	broad.mit.edu	37	chr7	150554844	150554844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggggtgccccttcggcGgcactttaattccaacttta	9	13	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:150554844G>A	uc003why.1	+	3	5504	c.1286G>A	c.(1285-1287)CGG>CAG	p.R429Q	ABP1_uc003whz.1_Missense_Mutation_p.R429Q|ABP1_uc003wia.1_Missense_Mutation_p.R429Q	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	429					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CCCCTTCGGCGGCACTTTAAT	0.527													A	150554844	G	A	150554844	3	1	131	1	0	0	0	0	1	0	0	0	98	1116	39	1	1288	1	ABP1	7	150554844	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	390612	150554844	8583819	839	77014											
SLC4A2	6522	broad.mit.edu	37	chr7	150771378	150771378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagccggttctttcctggcCgggtgcgtgggcttaaaggc	15	11	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:150771378C>T	uc003wit.3	+	17	3044	c.2788C>T	c.(2788-2790)CGG>TGG	p.R930W	SLC4A2_uc011kve.1_Missense_Mutation_p.R921W|SLC4A2_uc003wiu.3_Missense_Mutation_p.R916W|SLC4A2_uc003wiv.3_Missense_Mutation_p.R124W	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	930	Membrane (anion exchange).|Cytoplasmic (Potential).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTTCCTGGCCGGGTGCGTGG	0.637													T	150771378	C	T	150771378	3	4	131	1	0	0	0	0	1	0	0	0	14654	643	23	1	2850	1	SLC4A2	7	150771378	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	216534	150771378	8367285	840	77015											
GALNT11	63917	broad.mit.edu	37	chr7	151791468	151791468	+	Frame_Shift_Del	DEL	A	A	-													gggccccacggaccatctccAaaaaaattctatccccgttt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:151791467_151791467CA>C	uc010lqg.1	+	1	385	c.155_155CA>C	c.(154-156)ccafs	p.P52fs	GALNT11_uc011kvm.1_Intron|GALNT11_uc003wku.2_Frame_Shift_Del_p.P52fs|GALNT11_uc003wkv.1_Frame_Shift_Del_p.P52fs|GALNT11_uc011kvn.1_Non-coding_Transcript	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) (GALNT11), mRNA.	52						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		GGACCATCTCCAAAAAAATTC	0.468													-	151791468	A	-	151791468	7	5	131	1	0	1	0	1	0	0	0	0	6209	117	5	0	158	0	GALNT11	7	151791468	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	1020090	151791468	7347195	841	77016											
MLL3	58508	broad.mit.edu	37	chr7	151836879	151836879	+	Splice_Site	DEL	A	A	-													agcatacaggcccagcccctAaaaaaaagtgtgtacatact							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:151836878_151836878TA>T	uc003wla.3	-	56	14563	c.14344_splice	c.e56-1	p.G4782_splice	MLL3_uc003wkz.3_Splice_Site_p.G3896_splice|MLL3_uc003wkx.3_Splice_Site_p.G940_splice|MLL3_uc003wky.3_Splice_Site_p.G2342_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4782	SET.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCCCAGCCCCTAAAAAAAAGT	0.413			N		medulloblastoma								-	151836879	A	-	151836879	8	5	131	1	0	1	0	1	0	0	1	0	9622	377	13	0		0	MLL3	7	151836879	Splice_Site	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	45411	151836879	7301784	842	77017											
MLL3	58508	broad.mit.edu	37	chr7	151877839	151877839	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgggccatatttacagtaTtctgtgtatcagttactcct	7	9	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:151877839T>C	uc003wla.2	-	36	7325	c.7106A>G	c.(7105-7107)AAT>AGT	p.N2369S	MLL3_uc003wkz.2_Missense_Mutation_p.N1430S|MLL3_uc003wky.2_5'Flank	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2369					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ATTTACAGTATTCTGTGTATC	0.418			N		medulloblastoma								C	151877839	T	C	151877839	3	2	131	1	0	0	0	0	1	0	0	0	9622	1493	52	3	7725	3	MLL3	7	151877839	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	40960	151877839	7260824	843	77018											
DPP6	1804	broad.mit.edu	37	chr7	154561207	154561207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgccgccatcaatgattccCgtgtccccatcatggagctc	8	16	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:154561207C>T	uc003wlk.2	+	9	1093	c.964C>T	c.(964-966)CGT>TGT	p.R322C	DPP6_uc003wli.2_Missense_Mutation_p.R258C|DPP6_uc003wlm.2_Missense_Mutation_p.R260C|DPP6_uc011kvq.1_Missense_Mutation_p.R215C	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	322	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CAATGATTCCCGTGTCCCCAT	0.552													T	154561207	C	T	154561207	3	4	131	1	0	0	0	0	1	0	0	0	4730	652	23	1	1114	1	DPP6	7	154561207	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2683368	154561207	4577456	844	77019											
HTR5A	3361	broad.mit.edu	37	chr7	154862986	154862986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgacgtgctttgctgcaCggccagcatctggaacgtga	14	11	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:154862986C>T	uc003wlu.1	+	1	441	c.377C>T	c.(376-378)ACG>ATG	p.T126M	uc011kvt.1_Missense_Mutation_p.V10M|uc003wlt.2_Missense_Mutation_p.V10M	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	126	Helical; Name=3; (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTTTGCTGCACGGCCAGCATC	0.652													T	154862986	C	T	154862986	3	4	131	1	0	0	0	0	1	0	0	0	7450	536	19	1	379	1	HTR5A	7	154862986	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	301779	154862986	4275677	845	77020											
INSIG1	3638	broad.mit.edu	37	chr7	155094088	155094088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatagcttttctagctaCgctgatcacgcagtttctcg	7	13	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:155094088C>T	uc003wly.2	+	4	876	c.665C>T	c.(664-666)ACG>ATG	p.T222M	INSIG1_uc011kvu.1_Missense_Mutation_p.T70M|INSIG1_uc003wlz.2_Intron	NM_005542	NP_005533	O15503	INSI1_HUMAN	insulin induced gene 1 isoform 1	222	Helical; (Potential).				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTCTAGCTACGCTGATCACG	0.433													T	155094088	C	T	155094088	3	4	131	1	0	0	0	0	1	0	0	0	7765	536	19	1	675	1	INSIG1	7	155094088	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	231102	155094088	4044575	846	77021											
CNPY1	285888	broad.mit.edu	37	chr7	155301697	155301697	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttgaaagttctctccttCgtcacagggtcttcctcaag	7	13	5	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:155301697C>T	uc003wmc.1	-	2	181	c.36G>A	c.(34-36)ACG>ACA	p.T12T		NM_001103176	NP_001096646	Q3B7I2	CNPY1_HUMAN	canopy 1 homolog	12											0	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTCTCTCCTTCGTCACAGGGT	0.418													T	155301697	C	T	155301697	2	4	131	1	0	0	0	0	0	0	0	1	3627	871	31	1		1	CNPY1	7	155301697	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	207609	155301697	3836966	847	77022											
RBM33	155435	broad.mit.edu	37	chr7	155534589	155534589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaggaacagcaatttgcGtgaattacccatagcgccgt	10	11	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:155534589G>A	uc010lqk.1	+	13	2494	c.2126G>A	c.(2125-2127)CGT>CAT	p.R709H	RBM33_uc011kvv.1_Missense_Mutation_p.R518H	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	709							nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AGCAATTTGCGTGAATTACCC	0.507													A	155534589	G	A	155534589	3	1	131	1	0	0	0	0	1	0	0	0	13130	1145	40	1	2176	1	RBM33	7	155534589	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	232892	155534589	3604074	848	77023											
DNAJB6	10049	broad.mit.edu	37	chr7	157177650	157177650	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtggcatgggcaacttcaaaTcgatatcaacttcaactaaa	7	9	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:157177650T>A	uc003wnk.2	+	7	722	c.568T>A	c.(568-570)TCG>ACG	p.S190T	DNAJB6_uc003wnj.2_Missense_Mutation_p.S190T|DNAJB6_uc003wnl.2_Missense_Mutation_p.S177T|DNAJB6_uc011kvy.1_Missense_Mutation_p.S141T|DNAJB6_uc011kvz.1_Intron|DNAJB6_uc010lqt.2_Missense_Mutation_p.S190T	NM_058246	NP_490647	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	190	Interaction with KRT18.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding	p.S190S(1)		ovary(2)	2	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CAACTTCAAATCGATATCAAC	0.403													A	157177650	T	A	157177650	3	1	131	1	0	0	0	0	1	0	0	0	4624	1435	50	5	590	5	DNAJB6	7	157177650	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1643061	157177650	1961013	849	77024											
PTPRN2	5799	broad.mit.edu	37	chr7	158109576	158109576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgggcgacacctcgtagCggtaaaagtccattgccgga	12	13	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:158109576C>T	uc003wno.2	-	3	333	c.212G>A	c.(211-213)CGC>CAC	p.R71H	PTPRN2_uc003wnp.2_Missense_Mutation_p.R54H|PTPRN2_uc003wnq.2_Missense_Mutation_p.R71H|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Missense_Mutation_p.R94H	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	71	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CACCTCGTAGCGGTAAAAGTC	0.607													T	158109576	C	T	158109576	3	4	131	1	0	0	0	0	1	0	0	0	12808	768	27	1	2919	1	PTPRN2	7	158109576	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	931926	158109576	1029087	850	77025											
ESYT2	57488	broad.mit.edu	37	chr7	158526907	158526907	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctgctgcggctatgtcatCgcctgaggcctcgtcccatc	11	16	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr7:158526907C>T	uc003wob.1	-	22	2739	c.2673G>A	c.(2671-2673)GCG>GCA	p.A891A	ESYT2_uc003wny.1_RNA|ESYT2_uc003wnz.1_Silent_p.A330A|ESYT2_uc003woa.1_Silent_p.A468A	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain	919						integral to membrane|plasma membrane				central_nervous_system(2)|kidney(1)	3						GCTATGTCATCGCCTGAGGCC	0.527													T	158526907	C	T	158526907	2	4	131	1	0	0	0	0	0	0	0	1	5265	871	31	1		1	ESYT2	7	158526907	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	417331	158526907	611756	851	77026											
ARHGEF10	9639	broad.mit.edu	37	chr8	1876637	1876637	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcagattgccatcgtctcGtttcaaaattccactcccaa	6	13	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:1876637G>A	uc003wpr.2	+	24	2920	c.2742G>A	c.(2740-2742)TCG>TCA	p.S914S	ARHGEF10_uc003wps.2_Silent_p.S876S|ARHGEF10_uc010lre.2_Silent_p.S565S	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	939					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCATCGTCTCGTTTCAAAATT	0.488													A	1876637	G	A	1876637	2	1	131	1	0	0	0	0	0	0	0	1	894	1132	40	1		1	ARHGEF10	8	1876637	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08		1876637	144487385	852	77027											
ARHGEF10	9639	broad.mit.edu	37	chr8	1900959	1900959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtcctcgtggccctgccGgtcccacgtctgcaagggat	14	14	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:1900959G>A	uc003wpr.2	+	28	3664	c.3486G>A	c.(3484-3486)CCG>CCA	p.P1162P	ARHGEF10_uc003wps.2_Silent_p.P1124P|ARHGEF10_uc010lre.2_Silent_p.P813P	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	1187					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGGCCCTGCCGGTCCCACGTC	0.642													A	1900959	G	A	1900959	2	1	131	1	0	0	0	0	0	0	0	1	894	1103	39	1		1	ARHGEF10	8	1900959	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	24322	1900959	144463063	853	77028											
MYOM2	9172	broad.mit.edu	37	chr8	2017398	2017398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttttttctctccaaggGcagactttgacgacactgcg	9	10	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:2017398G>A	uc003wpx.3	+	7	793	c.655G>A	c.(655-657)GCA>ACA	p.A219T	MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	219	Ig-like C2-type 1.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTCTCCAAGGGCAGACTTTGA	0.522													A	2017398	G	A	2017398	3	1	131	1	0	0	0	0	1	0	0	0	10092	1217	42	2	677	2	MYOM2	8	2017398	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	116439	2017398	144346624	854	77029											
CSMD1	64478	broad.mit.edu	37	chr8	3081363	3081363	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacaaaataacacctgctgGgcccgtcagattccctccac	7	15	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:3081363G>T	uc011kwk.1	-	28	4765	c.4375C>A	c.(4375-4377)CCA>ACA	p.P1459T	CSMD1_uc011kwj.1_Missense_Mutation_p.P851T|CSMD1_uc003wqe.2_Missense_Mutation_p.P615T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1459	Extracellular (Potential).|CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACACCTGCTGGGCCCGTCAGA	0.507													T	3081363	G	T	3081363	3	4	131	1	0	0	0	0	1	0	0	0	3944	1232	43	5	6494	5	CSMD1	8	3081363	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1063965	3081363	143282659	855	77030											
CSMD1	64478	broad.mit.edu	37	chr8	3141845	3141845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgtcgtgagccatctccGtgtcgaaaacaatgaaatgg	12	8	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:3141845G>A	uc011kwk.1	-	26	4367	c.3977C>T	c.(3976-3978)ACG>ATG	p.T1326M	CSMD1_uc011kwj.1_Missense_Mutation_p.T718M|CSMD1_uc003wqe.2_Missense_Mutation_p.T482M	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1326	Extracellular (Potential).|CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGCCATCTCCGTGTCGAAAAC	0.562											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	3141845	G	A	3141845	3	1	131	1	0	0	0	0	1	0	0	0	3944	1145	40	1	6900	1	CSMD1	8	3141845	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	60482	3141845	143222177	856	77031											
CSMD1	64478	broad.mit.edu	37	chr8	3224649	3224649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacaggcctgccttgatcGtatgaggcaacaccgacccg	10	14	0	2	rs147113316	by1000genomes	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:3224649G>A	uc011kwk.1	-	20	3413	c.3023C>T	c.(3022-3024)ACG>ATG	p.T1008M	CSMD1_uc011kwj.1_Missense_Mutation_p.T400M|CSMD1_uc003wqe.2_Missense_Mutation_p.T164M	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1008	Extracellular (Potential).|CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCCTTGATCGTATGAGGCAA	0.478													A	3224649	G	A	3224649	3	1	131	1	0	0	0	0	1	0	0	0	3944	1145	40	1	7878	1	CSMD1	8	3224649	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	82804	3224649	143139373	857	77032											
CSMD1	64478	broad.mit.edu	37	chr8	3855509	3855509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgaagaccagcgcaatgGtgtccccgggctcagccaga	13	13	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:3855509G>A	uc011kwk.1	-	5	1124	c.734C>T	c.(733-735)ACC>ATC	p.T245I		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	245	Extracellular (Potential).|CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGCGCAATGGTGTCCCCGGG	0.547													A	3855509	G	A	3855509	3	1	131	1	0	0	0	0	1	0	0	0	3944	1261	44	4	10037	4	CSMD1	8	3855509	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	630860	3855509	142508513	858	77033											
SGK223	157285	broad.mit.edu	37	chr8	8235431	8235431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctcaaggttgtgcaggCcgaccatggtgtaagctggg	18	8	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:8235431C>T	uc003wsh.3	-	2	488	c.488G>A	c.(487-489)GGC>GAC	p.G163D		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	163							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GTTGTGCAGGCCGACCATGGT	0.592													T	8235431	C	T	8235431	3	4	131	1	0	0	0	0	1	0	0	0	14210	739	26	2	3736	2	SGK223	8	8235431	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4379922	8235431	138128591	859	77034											
TNKS	8658	broad.mit.edu	37	chr8	9627729	9627729	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattggtagaccgagcgtcaAtgggctggcatatgctgaat	13	8	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:9627729A>G	uc003wss.2	+	26	3859	c.3854A>G	c.(3853-3855)AAT>AGT	p.N1285S	TNKS_uc011kww.1_Missense_Mutation_p.N1048S	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	1285	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		CCGAGCGTCAATGGGCTGGCA	0.473													G	9627729	A	G	9627729	3	3	131	1	0	0	0	0	1	0	0	0	16316	101	4	3	3956	3	TNKS	8	9627729	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1392298	9627729	136736293	860	77035											
TNKS	8658	broad.mit.edu	37	chr8	9627753	9627753	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggcatatgctgaatatgTcatctacagaggagaacagg	12	7	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:9627753T>C	uc003wss.2	+	26	3883	c.3878T>C	c.(3877-3879)GTC>GCC	p.V1293A	TNKS_uc011kww.1_Missense_Mutation_p.V1056A	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	1293	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		GCTGAATATGTCATCTACAGA	0.468													C	9627753	T	C	9627753	3	2	131	1	0	0	0	0	1	0	0	0	16316	1667	58	3	3980	3	TNKS	8	9627753	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	24	9627753	136736269	861	77036											
SOX7	83595	broad.mit.edu	37	chr8	10583281	10583281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctgttgtagtacgtggcCgtggcatcagccaggacgga	15	9	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:10583281C>T	uc003wtf.2	-	2	1213	c.1134G>A	c.(1132-1134)ACG>ACA	p.T378T	SOX7_uc011kwz.1_Silent_p.T430T	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	378	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)	1				COAD - Colon adenocarcinoma(149;0.0732)		AGTACGTGGCCGTGGCATCAG	0.637													T	10583281	C	T	10583281	2	4	131	1	0	0	0	0	0	0	0	1	14956	639	23	1		1	SOX7	8	10583281	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	955528	10583281	135780741	862	77037											
SOX7	83595	broad.mit.edu	37	chr8	10690428	10690428	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgatggtagctccgagtcCcaggtggttatttttcactt	10	8	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:10690428C>A	uc011kwz.1	-	3	229	c.196G>T	c.(196-198)GGA>TGA	p.G66*	PINX1_uc003wth.2_Nonsense_Mutation_p.G66*|PINX1_uc003wti.2_Nonsense_Mutation_p.G66*	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	Error:Variant_position_missing_in_Q9BT81_after_alignment					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)	1				COAD - Colon adenocarcinoma(149;0.0732)		GCTCCGAGTCCCAGGTGGTTA	0.438													A	10690428	C	A	10690428	4	1	131	1	0	0	0	0	0	1	0	0	14956	632	22	5		5	SOX7	8	10690428	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	107147	10690428	135673594	863	77038											
FAM86B1	85002	broad.mit.edu	37	chr8	12042911	12042911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtggtgaacagctggcacGtctctgggttgcggacggta	17	9	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:12042911G>A	uc010lse.2	-	6	809	c.764C>T	c.(763-765)ACG>ATG	p.T255M	FAM66D_uc011kxp.1_Intron|FAM86B1_uc003wvf.3_RNA|FAM86B1_uc003wvi.3_Missense_Mutation_p.T61M|FAM86B1_uc010lsd.2_RNA|FAM86B1_uc003wvh.3_Missense_Mutation_p.T98M|FAM86B1_uc011kxq.1_Missense_Mutation_p.T61M|FAM86B1_uc010lsf.2_Missense_Mutation_p.T98M|FAM86B1_uc003wvj.3_Missense_Mutation_p.T189M|FAM86B1_uc003wvk.3_Missense_Mutation_p.T289M|FAM86B1_uc010lsg.2_RNA|FAM86B1_uc003wvl.3_RNA	NM_001083537	NP_001077006	Q8N7N1	F86B1_HUMAN	hypothetical protein LOC85002	255											0			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		CAGCTGGCACGTCTCTGGGTT	0.647													A	12042911	G	A	12042911	3	1	131	1	0	0	0	0	1	0	0	0	5644	1145	40	1	134	1	FAM86B1	8	12042911	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1352483	12042911	134321111	864	77039											
LONRF1	91694	broad.mit.edu	37	chr8	12594270	12594270	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attcttctggaatatcaccaTaagctaaggaaaacatacag	6	8	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:12594270T>A	uc003wwd.1	-	6	1454	c.1391A>T	c.(1390-1392)TAT>TTT	p.Y464F	LONRF1_uc011kxv.1_Missense_Mutation_p.Y53F|LONRF1_uc010lsp.1_Missense_Mutation_p.Y64F	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger	464					proteolysis		ATP-dependent peptidase activity|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(644;0.236)		AATATCACCATAAGCTAAGGA	0.318													A	12594270	T	A	12594270	3	1	131	1	0	0	0	0	1	0	0	0	8894	1406	49	5	958	5	LONRF1	8	12594270	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	551359	12594270	133769752	865	77040											
DLC1	10395	broad.mit.edu	37	chr8	13357421	13357421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaacacacttctctttgcGgtccacatttagagttgcat	7	10	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:13357421G>A	uc003wwm.2	-	2	604	c.160C>T	c.(160-162)CGC>TGC	p.R54C	DLC1_uc003wwn.2_Missense_Mutation_p.R54C|DLC1_uc011kxy.1_Missense_Mutation_p.R54C	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	54					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TTCTCTTTGCGGTCCACATTT	0.453													A	13357421	G	A	13357421	3	1	131	1	0	0	0	0	1	0	0	0	4550	1116	39	1	4579	1	DLC1	8	13357421	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	763151	13357421	133006601	866	77041											
MTMR7	9108	broad.mit.edu	37	chr8	17198880	17198880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgacacttactttaggccGggtgtcaacgacataaacga	11	9	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:17198880G>A	uc003wxm.2	-	6	963	c.724C>T	c.(724-726)CGG>TGG	p.R242W	MTMR7_uc003wxn.2_Missense_Mutation_p.R21W	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	242	Myotubularin phosphatase.						protein tyrosine phosphatase activity			skin(1)	1				Colorectal(111;0.112)		ACTTTAGGCCGGGTGTCAACG	0.542													A	17198880	G	A	17198880	3	1	131	1	0	0	0	0	1	0	0	0	9948	1115	39	1	1294	1	MTMR7	8	17198880	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	3841459	17198880	129165142	867	77042											
PCM1	5108	broad.mit.edu	37	chr8	17810569	17810569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaccatcagcttcagaaCgtttacctgatgagaaagtc	9	9	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:17810569C>T	uc003wyi.3	+	9	1584	c.1162C>T	c.(1162-1164)CGT>TGT	p.R388C	PCM1_uc011kyh.1_Missense_Mutation_p.R388C|PCM1_uc003wyj.3_Missense_Mutation_p.R388C|PCM1_uc003wyg.2_Missense_Mutation_p.R388C|PCM1_uc003wyh.2_Missense_Mutation_p.R427C|PCM1_uc010lta.1_Missense_Mutation_p.R427C	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	388					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)		AGCTTCAGAACGTTTACCTGA	0.398			T	RET|JAK2	papillary thyroid|CML|MPD								T	17810569	C	T	17810569	3	4	131	1	0	0	0	0	1	0	0	0	11584	536	19	1	1188	1	PCM1	8	17810569	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	611689	17810569	128553453	868	77043											
SLC18A1	6570	broad.mit.edu	37	chr8	20036930	20036930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggaacttccggcatggcCgaggtgcagagaagagttga	17	7	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:20036930C>T	uc011kyq.1	-	4	661	c.190G>A	c.(190-192)GGC>AGC	p.G64S	SLC18A1_uc003wzm.2_Missense_Mutation_p.G64S|SLC18A1_uc011kyr.1_Missense_Mutation_p.G64S|SLC18A1_uc003wzn.2_Missense_Mutation_p.G64S|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Missense_Mutation_p.G64S	NM_001135691	NP_001129163	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine),	64	Lumenal, vesicle (Potential).				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			ovary(2)	2				Colorectal(74;0.0747)		CCGGCATGGCCGAGGTGCAGA	0.517													T	20036930	C	T	20036930	3	4	131	1	0	0	0	0	1	0	0	0	14425	652	23	1	1443	1	SLC18A1	8	20036930	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2226361	20036930	126327092	869	77044											
HR	55806	broad.mit.edu	37	chr8	21977305	21977305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctggggctccagtggaCgcagggcaaggcccggtggg	20	10	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:21977305C>T	uc003xas.2	-	14	3610	c.2945G>A	c.(2944-2946)CGT>CAT	p.R982H	HR_uc003xat.2_Missense_Mutation_p.R982H	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	982	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTCCAGTGGACGCAGGGCAAG	0.627													T	21977305	C	T	21977305	3	4	131	1	0	0	0	0	1	0	0	0	7347	536	19	1	648	1	HR	8	21977305	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1940375	21977305	124386717	870	77045											
LGI3	203190	broad.mit.edu	37	chr8	22006340	22006340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctaggtcgttaggcttgCgcacgcgctgcgggtcaatg	14	11	2	0	rs143158388	by1000genomes	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:22006340C>T	uc003xav.2	-	8	1269	c.980G>A	c.(979-981)CGC>CAC	p.R327H	LGI3_uc010ltu.2_Missense_Mutation_p.R303H	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	327	EAR 3.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GTTAGGCTTGCGCACGCGCTG	0.617													T	22006340	C	T	22006340	3	4	131	1	0	0	0	0	1	0	0	0	8753	768	27	1	670	1	LGI3	8	22006340	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	29035	22006340	124357682	871	77046											
PHYHIP	9796	broad.mit.edu	37	chr8	22079224	22079224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgctgggattgaagaggCgctgagctgggatctggaag	19	5	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:22079224C>T	uc003xbk.3	-	6	1329	c.635G>A	c.(634-636)CGC>CAC	p.R212H	PHYHIP_uc003xbj.3_Missense_Mutation_p.R212H	NM_001099335	NP_001092805	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	212											0				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		ATTGAAGAGGCGCTGAGCTGG	0.627													T	22079224	C	T	22079224	3	4	131	1	0	0	0	0	1	0	0	0	11866	768	27	1	361	1	PHYHIP	8	22079224	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	72884	22079224	124284798	872	77047											
PIWIL2	55124	broad.mit.edu	37	chr8	22175773	22175773	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctatgcctcgtgggctccttAaaaaagttttatgaggtgag	11	7	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:22175773A>T	uc003xbn.2	+	20	2536	c.2388A>T	c.(2386-2388)TTA>TTT	p.L796F	PIWIL2_uc011kzf.1_Missense_Mutation_p.L796F|PIWIL2_uc010ltv.2_Missense_Mutation_p.L796F	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2	796	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			skin(1)	1				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TGGGCTCCTTAAAAAAGTTTT	0.378													T	22175773	A	T	22175773	3	4	131	1	0	0	0	0	1	0	0	0	11958	359	13	5	2462	5	PIWIL2	8	22175773	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	96549	22175773	124188249	873	77048											
SORBS3	10174	broad.mit.edu	37	chr8	22424653	22424653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggagggagagcaccacGgccgcctgggcatcttccct	15	14	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:22424653G>A	uc003xbv.2	+	16	1610	c.1270G>A	c.(1270-1272)GGC>AGC	p.G424S	SORBS3_uc003xbw.3_Missense_Mutation_p.G82S	NM_005775	NP_005766	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3 isoform 1	424	SH3 1.|Binds to vinculin.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding				0		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AGAGCACCACGGCCGCCTGGG	0.602													A	22424653	G	A	22424653	3	1	131	1	0	0	0	0	1	0	0	0	14929	1116	39	1	1328	1	SORBS3	8	22424653	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	248880	22424653	123939369	874	77049											
SORBS3	10174	broad.mit.edu	37	chr8	22428603	22428603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcctgaccgctgccgccCgctcagcccgtcaccccagc	9	24	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:22428603C>T	uc003xbv.2	+	18	1952	c.1612C>T	c.(1612-1614)CGC>TGC	p.R538C	SORBS3_uc003xbw.3_Missense_Mutation_p.R196C	NM_005775	NP_005766	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3 isoform 1	538					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding				0		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CGCTGCCGCCCGCTCAGCCCG	0.706													T	22428603	C	T	22428603	3	4	131	1	0	0	0	0	1	0	0	0	14929	652	23	1	1678	1	SORBS3	8	22428603	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3950	22428603	123935419	875	77050											
EGR3	1960	broad.mit.edu	37	chr8	22548121	22548121	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcttgcgctcgtcgctgcgCgcaaacttgcgcccgcagaa	12	16	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:22548121C>T	uc003xcm.1	-	2	1387	c.1029G>A	c.(1027-1029)GCG>GCA	p.A343A	EGR3_uc011kzn.1_Silent_p.A305A|EGR3_uc011kzo.1_Silent_p.A289A	NM_004430	NP_004421	Q06889	EGR3_HUMAN	early growth response 3	343	C2H2-type 3.				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CGTCGCTGCGCGCAAACTTGC	0.652													T	22548121	C	T	22548121	2	4	131	1	0	0	0	0	0	0	0	1	4973	755	27	1		1	EGR3	8	22548121	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	119518	22548121	123815901	876	77051											
RHOBTB2	23221	broad.mit.edu	37	chr8	22864673	22864673	+	Frame_Shift_Del	DEL	G	G	-													gacctgagtgagggggagctGgggggcccctcggagccagg					rs139255771		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:22864672_22864672TG>T	uc003xcp.2	+	6	1263	c.980_980TG>T	c.(979-981)ctgfs	p.L327fs	RHOBTB2_uc011kzp.1_Frame_Shift_Del_p.L312fs|RHOBTB2_uc003xcq.2_Frame_Shift_Del_p.L305fs|BC043400_uc003xcr.3_Non-coding_Transcript	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN	Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.	305	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GAGGGGGAGCTGGGGGGCCCC	0.622													-	22864673	G	-	22864673	7	5	131	1	0	1	0	1	0	0	0	0	13334	1335	47	0	1014	0	RHOBTB2	8	22864673	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	316552	22864673	123499349	877	77052											
RHOBTB2	23221	broad.mit.edu	37	chr8	22864803	22864803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagccagctttgacgtgtgcGagagcgtggatgaggctggg	18	8	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:22864803G>A	uc003xcq.2	+	5	1582	c.1045G>A	c.(1045-1047)GAG>AAG	p.E349K	RHOBTB2_uc003xcp.2_Missense_Mutation_p.E371K|RHOBTB2_uc011kzp.1_Missense_Mutation_p.E356K|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	349	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGACGTGTGCGAGAGCGTGGA	0.567													A	22864803	G	A	22864803	3	1	131	1	0	0	0	0	1	0	0	0	13334	1059	37	1	1144	1	RHOBTB2	8	22864803	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	130	22864803	123499219	878	77053											
CHMP7	91782	broad.mit.edu	37	chr8	23106740	23106740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcgaggggagctgcagcGggagtcagacttcatggcca	16	10	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:23106740G>A	uc003xdc.2	+	3	965	c.317G>A	c.(316-318)CGG>CAG	p.R106Q	CHMP7_uc011kzs.1_Intron|CHMP7_uc003xdd.2_5'UTR	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	CHMP family, member 7	106					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity				0		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GAGCTGCAGCGGGAGTCAGAC	0.532													A	23106740	G	A	23106740	3	1	131	1	0	0	0	0	1	0	0	0	3361	1116	39	1	323	1	CHMP7	8	23106740	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	241937	23106740	123257282	879	77054											
LOXL2	4017	broad.mit.edu	37	chr8	23159567	23159567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtagtctccagggggcacGtcagtgatgtcaacccactg	13	11	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:23159567G>A	uc003xdh.1	-	12	2445	c.2106C>T	c.(2104-2106)GAC>GAT	p.D702D	LOXL2_uc010lty.1_Silent_p.D241D	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	702	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CAGGGGGCACGTCAGTGATGT	0.612													A	23159567	G	A	23159567	2	1	131	1	0	0	0	0	0	0	0	1	8900	1136	40	1		1	LOXL2	8	23159567	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	52827	23159567	123204455	880	77055											
LOXL2	4017	broad.mit.edu	37	chr8	23185998	23185998	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccacttgtcgtcgcagacGgtcccccattctccattttt	6	16	1	1	rs146789742		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:23185998G>A	uc003xdh.1	-	6	1386	c.1047C>T	c.(1045-1047)ACC>ACT	p.T349T		NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	349	SRCR 3.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CGTCGCAGACGGTCCCCCATT	0.632													A	23185998	G	A	23185998	2	1	131	1	0	0	0	0	0	0	0	1	8900	1103	39	1		1	LOXL2	8	23185998	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	26431	23185998	123178024	881	77056											
PPP2R2A	5520	broad.mit.edu	37	chr8	26218507	26218507	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtgccagtctttaggccTatggatctaatggttgaggc	13	8	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:26218507T>C	uc003xeu.2	+	6	779	c.477T>C	c.(475-477)CCT>CCC	p.P159P	PPP2R2A_uc003xek.2_Intron|PPP2R2A_uc011laf.1_Silent_p.P169P	NM_002717	NP_002708	P63151	2ABA_HUMAN	alpha isoform of regulatory subunit B55, protein	159					protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			ovary(1)|kidney(1)	2		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TCTTTAGGCCTATGGATCTAA	0.328													C	26218507	T	C	26218507	2	2	131	1	0	0	0	0	0	0	0	1	12384	1509	53	3		3	PPP2R2A	8	26218507	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	3032509	26218507	120145515	882	77057											
PTK2B	2185	broad.mit.edu	37	chr8	27289871	27289871	+	Frame_Shift_Del	DEL	C	C	-													tcagctgggcattgaaggtgCcccccaggtgagtgtctctg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:27289871delC	uc003xfn.1	+	15	1788	c.980delC	c.(979-981)GCCfs	p.A327fs	PTK2B_uc003xfo.1_Frame_Shift_Del_p.A327fs|PTK2B_uc003xfp.1_Frame_Shift_Del_p.A327fs|PTK2B_uc003xfq.1_Frame_Shift_Del_p.A327fs|PTK2B_uc010luq.1_Frame_Shift_Del_p.A98fs|PTK2B_uc003xfr.1_Frame_Shift_Del_p.A73fs	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	327	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		ATTGAAGGTGCCCCCCAGGTG	0.607													-	27289871	C	-	27289871	7	5	131	1	0	1	0	1	0	0	0	0	12763	739	26	0	1014	0	PTK2B	8	27289871	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	1071364	27289871	119074151	883	77058											
PTK2B	2185	broad.mit.edu	37	chr8	27301752	27301752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaagtacagaccccctccGcaaaccaacctcctggctcc	5	20	0	1	rs144972819	by1000genomes	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:27301752G>A	uc003xfn.1	+	28	2986	c.2178G>A	c.(2176-2178)CCG>CCA	p.P726P	PTK2B_uc003xfo.1_Silent_p.P726P|PTK2B_uc003xfp.1_Silent_p.P726P|PTK2B_uc003xfq.1_Silent_p.P726P|PTK2B_uc003xfr.1_Silent_p.P472P	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	726	Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GACCCCCTCCGCAAACCAACC	0.537													A	27301752	G	A	27301752	2	1	131	1	0	0	0	0	0	0	0	1	12763	1074	38	1		1	PTK2B	8	27301752	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	11881	27301752	119062270	884	77059											
CLU	1191	broad.mit.edu	37	chr8	27462724	27462724	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtctatgatgctggacgcGcggctgaagtggtcctgcat	14	10	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:27462724G>A	uc003xfw.1	-	4	604	c.546C>T	c.(544-546)CGC>CGT	p.R182R	CLU_uc010lux.1_Silent_p.R47R|CLU_uc003xfx.1_Silent_p.R182R|CLU_uc003xfy.1_Silent_p.R193R|CLU_uc003xfz.1_Silent_p.R234R	NM_203339	NP_976084	P10909	CLUS_HUMAN	clusterin isoform 2	182					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			ovary(2)	2		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TGCTGGACGCGCGGCTGAAGT	0.607													A	27462724	G	A	27462724	2	1	131	1	0	0	0	0	0	0	0	1	3568	1074	38	1		1	CLU	8	27462724	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	160972	27462724	118901298	885	77060											
ESCO2	157570	broad.mit.edu	37	chr8	27634456	27634456	+	Frame_Shift_Del	DEL	T	T	-													cactccagggtggagcagcaTtttttgttagaaaaaaatct							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:27634455_27634455AT>A	uc003xgg.3	+	2	713	c.630_630AT>A	c.(628-630)gcafs	p.A210fs	ESCO2_uc010luy.1_Non-coding_Transcript|ESCO2_uc003xgh.3_Frame_Shift_Del_p.A210fs	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2), mRNA.	210					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GTGGAGCAGCATTTTTTGTTA	0.388									SC Phocomelia syndrome				-	27634456	T	-	27634456	7	5	131	1	0	1	0	1	0	0	0	0	5249	1493	52	0	637	0	ESCO2	8	27634456	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	171732	27634456	118729566	886	77061											
FZD3	7976	broad.mit.edu	37	chr8	28409242	28409242	+	Frame_Shift_Del	DEL	T	T	-													acatgctttgaatgggccagTttttttcatggtcgtaggaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:28409242delT	uc003xgx.2	+	6	2005	c.1527delT	c.(1525-1527)AGTfs	p.S509fs	FZD3_uc010lvb.2_Frame_Shift_Del_p.S509fs	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3 precursor	509	Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		AATGGGCCAGTTTTTTTCATG	0.353													-	28409242	T	-	28409242	7	5	131	1	0	1	0	1	0	0	0	0	6131	1722	60	0	1541	0	FZD3	8	28409242	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	774786	28409242	117954780	887	77062											
MAK16	84549	broad.mit.edu	37	chr8	33354755	33354756	+	Frame_Shift_Ins	INS	-	-	G													tgttttatttataggatgtgINSgggaaaagagaatttgtcga							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:33354754_33354755T>TG	uc003xjj.3	+	8	684_685	c.644_645T>TG	c.(643-645)gtgfs	p.V215fs	TTI2_uc010lvu.1_Intron	NM_032509	NP_115898	Q9BXY0	MAK16_HUMAN	Homo sapiens MAK16 homolog (S. cerevisiae) (MAK16), mRNA.	215	Asp-rich.					nucleolus				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						TTATAGGATGTGGGGAAAAGAG	0.351													G	33354756	-	G	33354755	7	5	131	1	0	1	1	0	0	0	0	0	9198	1335	47	0	679	0	MAK16	8	33354755	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	4945513	33354755	113009267	888	77063											
UNC5D	137970	broad.mit.edu	37	chr8	35583896	35583897	+	Frame_Shift_Ins	INS	-	-	C													agaatcattccaggacttttINSccccatggaaacaaccacag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:35583896_35583897insC	uc003xjr.1	+	10	1858_1859	c.1530_1531insC	c.(1528-1533)TTTCCCfs	p.F510fs	UNC5D_uc003xjs.1_Frame_Shift_Ins_p.F505fs|UNC5D_uc003xju.1_Frame_Shift_Ins_p.F86fs|UNC5D_uc003xjt.1_Frame_Shift_Ins_p.F268fs	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	510_511	Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCAGGACTTTTCCCCATGGAAA	0.47													C	35583897	-	C	35583896	7	5	131	1	0	1	1	0	0	0	0	0	16992	1780	62	0	1568	0	UNC5D	8	35583896	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	2229141	35583896	110780126	889	77064	363	2									
UNC5D	137970	broad.mit.edu	37	chr8	35583897	35583898	+	Frame_Shift_Ins	INS	-	-	C													gaatcattccaggacttttcINScccatggaaacaaccacagc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:35583896_35583897T>TC	uc003xjr.2	+	9	1858_1859	c.1530_1531T>TC	c.(1528-1533)tttcccfs	p.F510fs	UNC5D_uc003xjs.2_Frame_Shift_Ins_p.F505fs|UNC5D_uc003xju.2_Frame_Shift_Ins_p.F86fs|UNC5D_uc003xjt.1_Frame_Shift_Ins_p.F268fs	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	510					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCAGGACTTTTCCCCATGGAAA	0.47													C	35583898	-	C	35583897	7	5	131	1	0	1	1	0	0	0	0	0	16992	855	30	0	1569	0	UNC5D	8	35583897	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	35583897	110780125	890	77065	363	2									
KCNU1	157855	broad.mit.edu	37	chr8	36691163	36691163	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgcaatgaagtgggaggatCtgaggcgagttgcggtaaga	17	5	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:36691163C>G	uc010lvw.2	+	11	1285	c.1198C>G	c.(1198-1200)CTG>GTG	p.L400V	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	400	RCK N-terminal.|Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GTGGGAGGATCTGAGGCGAGT	0.373													G	36691163	C	G	36691163	3	3	131	1	0	0	0	0	1	0	0	0	8093	912	32	5	1240	5	KCNU1	8	36691163	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1107266	36691163	109672859	891	77066											
KCNU1	157855	broad.mit.edu	37	chr8	36793082	36793082	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcaagctgctgccttcagatCttgtgttttgtgccataccc	8	12	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:36793082C>A	uc010lvw.2	+	27	3181	c.3094C>A	c.(3094-3096)CTT>ATT	p.L1032I		NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1032	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GCCTTCAGATCTTGTGTTTTG	0.428													A	36793082	C	A	36793082	3	1	131	1	0	0	0	0	1	0	0	0	8093	913	32	5	3200	5	KCNU1	8	36793082	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	101919	36793082	109570940	892	77067											
BRF2	55290	broad.mit.edu	37	chr8	37702233	37702233	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccggccgcttcccctggggTaaacctaaggaattatttcc	10	13	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:37702233T>C	uc003xkk.2	-	4	1145	c.1035A>G	c.(1033-1035)TTA>TTG	p.L345L		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	RNA polymerase III transcription initiation	345					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding				0		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			TCCCCTGGGGTAAACCTAAGG	0.612													C	37702233	T	C	37702233	2	2	131	1	0	0	0	0	0	0	0	1	1511	1635	57	3		3	BRF2	8	37702233	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	909151	37702233	108661789	893	77068											
BRF2	55290	broad.mit.edu	37	chr8	37702549	37702549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaacatgaaagccgatctGcaggctgcagcgactgccaa	13	11	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:37702549G>A	uc003xkk.2	-	4	829	c.719C>T	c.(718-720)GCA>GTA	p.A240V		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	RNA polymerase III transcription initiation	240	2.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding				0		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			AAGCCGATCTGCAGGCTGCAG	0.602													A	37702549	G	A	37702549	3	1	131	1	0	0	0	0	1	0	0	0	1511	1319	46	2	544	2	BRF2	8	37702549	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	316	37702549	108661473	894	77069											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37729779	37729779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggctctccgtcagacgcGtttccagcaacagaccatgc	11	14	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:37729779G>A	uc003xkm.1	-	4	2585	c.2541C>T	c.(2539-2541)AAC>AAT	p.N847N	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Silent_p.N176N|RAB11FIP1_uc003xko.1_Silent_p.N176N|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	847					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CGTCAGACGCGTTTCCAGCAA	0.632													A	37729779	G	A	37729779	2	1	131	1	0	0	0	0	0	0	0	1	12893	1136	40	1		1	RAB11FIP1	8	37729779	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	27230	37729779	108634243	895	77070											
ANK1	286	broad.mit.edu	37	chr8	41519420	41519420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctcctgggcggcatcggCgctggacaagtctatctgtc	14	12	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:41519420C>T	uc003xok.2	-	41	5602	c.5518G>A	c.(5518-5520)GCC>ACC	p.A1840T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.A994T|ANK1_uc003xoi.2_Missense_Mutation_p.A1840T|ANK1_uc003xoj.2_Missense_Mutation_p.A1840T|ANK1_uc003xol.2_Missense_Mutation_p.A1678T|ANK1_uc003xom.2_Missense_Mutation_p.A1881T|ANK1_uc011lcl.1_Missense_Mutation_p.A115T|ANK1_uc003xod.2_Missense_Mutation_p.A115T|ANK1_uc003xoc.2_Missense_Mutation_p.A115T|ANK1_uc003xof.2_Intron|MIR486_hsa-mir-486|MI0002470_5'Flank	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1840	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCGGCATCGGCGCTGGACAAG	0.473													T	41519420	C	T	41519420	3	4	131	1	0	0	0	0	1	0	0	0	620	768	27	1	238	1	ANK1	8	41519420	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3789641	41519420	104844602	896	77071											
MYST3	7994	broad.mit.edu	37	chr8	41792210	41792210	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaactggcatgatttcccgActcaacttaaatcctggttt	7	10	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:41792210A>T	uc010lxb.2	-	18	4072	c.3528T>A	c.(3526-3528)AGT>AGA	p.S1176R	MYST3_uc010lxc.2_Missense_Mutation_p.S1176R|MYST3_uc003xon.3_Missense_Mutation_p.S1176R	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1176					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			TGATTTCCCGACTCAACTTAA	0.463													T	41792210	A	T	41792210	3	4	131	1	0	0	0	0	1	0	0	0	10104	272	10	5	2490	5	MYST3	8	41792210	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	272790	41792210	104571812	897	77072											
MYST3	7994	broad.mit.edu	37	chr8	41906068	41906068	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaatcgtaactgctggtgaAagccagaggcagcactgcct	11	12	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:41906068A>C	uc010lxb.2	-	3	972	c.428T>G	c.(427-429)TTT>TGT	p.F143C	MYST3_uc010lxc.2_Missense_Mutation_p.F143C|MYST3_uc003xon.3_Missense_Mutation_p.F143C|MYST3_uc010lxd.2_Missense_Mutation_p.F143C	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	143	H15.|Required for activation of RUNX1-1.|Required for nuclear localization.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CTGCTGGTGAAAGCCAGAGGC	0.478													C	41906068	A	C	41906068	3	2	131	1	0	0	0	0	1	0	0	0	10104	14	1	5	5650	5	MYST3	8	41906068	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	113858	41906068	104457954	898	77073											
SLC20A2	6575	broad.mit.edu	37	chr8	42294547	42294547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaaaggacccgaaacaggCggtgaggacctgcaggaaat	14	9	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:42294547C>T	uc010lxl.2	-	8	2177	c.1483G>A	c.(1483-1485)GCC>ACC	p.A495T	SLC20A2_uc010lxm.2_Missense_Mutation_p.A495T|SLC20A2_uc003xpe.2_Missense_Mutation_p.A495T|SLC20A2_uc011lcu.1_Missense_Mutation_p.A297T	NM_006749	NP_006740	Q08357	S20A2_HUMAN	solute carrier family 20, member 2	495	Helical; (Potential).				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(2)	2	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCGAAACAGGCGGTGAGGACC	0.612													T	42294547	C	T	42294547	3	4	131	1	0	0	0	0	1	0	0	0	14439	768	27	1	491	1	SLC20A2	8	42294547	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	388479	42294547	104069475	899	77074											
RNF170	81790	broad.mit.edu	37	chr8	42716955	42716955	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcaatctcagaacatccTgagactgatcatcttcacca	6	12	4	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:42716955T>C	uc003xpo.2	-	6	917	c.440A>G	c.(439-441)CAG>CGG	p.Q147R	RNF170_uc011lcx.1_Intron|RNF170_uc010lxp.2_Missense_Mutation_p.Q63R|RNF170_uc003xpm.2_Missense_Mutation_p.Q147R|RNF170_uc003xpp.2_Missense_Mutation_p.Q51R|RNF170_uc003xpn.2_Missense_Mutation_p.Q51R|RNF170_uc003xpq.3_Missense_Mutation_p.Q147R	NM_001160223	NP_001153695	Q96K19	RN170_HUMAN	ring finger protein 170 isoform a	147						integral to membrane	zinc ion binding				0	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CAGAACATCCTGAGACTGATC	0.338													C	42716955	T	C	42716955	3	2	131	1	0	0	0	0	1	0	0	0	13462	1580	55	3	555	3	RNF170	8	42716955	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	422408	42716955	103647067	900	77075											
PRKDC	5591	broad.mit.edu	37	chr8	48776075	48776075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaggcgagaatacatcaCgtctagaatcttatagtagc	11	7	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:48776075C>T	uc003xqi.2	-	43	5692	c.5635G>A	c.(5635-5637)GTG>ATG	p.V1879M	PRKDC_uc003xqj.2_Missense_Mutation_p.V1879M|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1879					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GAATACATCACGTCTAGAATC	0.333								NHEJ					T	48776075	C	T	48776075	3	4	131	1	0	0	0	0	1	0	0	0	12521	536	19	1	6931	1	PRKDC	8	48776075	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	6059120	48776075	97587947	901	77076											
PXDNL	137902	broad.mit.edu	37	chr8	52321350	52321350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctctcctgctcctgtcgcGcgcactcggtgggtgggcct	15	15	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:52321350G>A	uc003xqu.3	-	17	2935	c.2834C>T	c.(2833-2835)GCG>GTG	p.A945V	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	945					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTCCTGTCGCGCGCACTCGGT	0.652													A	52321350	G	A	52321350	3	1	131	1	0	0	0	0	1	0	0	0	12848	1087	38	1	1585	1	PXDNL	8	52321350	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	3545275	52321350	94042672	902	77077											
RB1CC1	9821	broad.mit.edu	37	chr8	53568735	53568735	+	Frame_Shift_Del	DEL	T	T	-													tgctcctggctgctgaccaaTttttgtctgtctttctcaag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:53568734_53568734AT>A	uc003xre.4	-	14	4213	c.3655_3655AT>T	c.(3655-3657)ttgfs	p.L1219fs	RB1CC1_uc003xrf.4_Frame_Shift_Del_p.L1219fs	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	1219					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTGCTGACCAATTTTTGTCTG	0.353													-	53568735	T	-	53568735	7	5	131	1	0	1	0	1	0	0	0	0	13099	1490	52	0	1170	0	RB1CC1	8	53568735	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	1247385	53568735	92795287	903	77078											
FAM110B	90362	broad.mit.edu	37	chr8	59059293	59059293	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgaaggtctaccccacGcagggccgcaggagcccgca	12	17	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:59059293G>A	uc003xtj.1	+	5	1384	c.504G>A	c.(502-504)ACG>ACA	p.T168T		NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	168						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				TCTACCCCACGCAGGGCCGCA	0.692													A	59059293	G	A	59059293	2	1	131	1	0	0	0	0	0	0	0	1	5397	1074	38	1		1	FAM110B	8	59059293	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	5490558	59059293	87304729	904	77079											
CHD7	55636	broad.mit.edu	37	chr8	61734586	61734586	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactatatttgaaacaggagCgacctcctgctgatgattgg	10	8	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:61734586C>T	uc003xue.2	+	11	3316	c.2839C>T	c.(2839-2841)CGA>TGA	p.R947*	CHD7_uc003xuf.2_Nonsense_Mutation_p.R60*	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	947	Chromo 2.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAAACAGGAGCGACCTCCTGC	0.403													T	61734586	C	T	61734586	4	4	131	1	0	0	0	0	0	1	0	0	3330	760	27	1	2877	1	CHD7	8	61734586	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2675293	61734586	84629436	905	77080											
CHD7	55636	broad.mit.edu	37	chr8	61769311	61769311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccaagcaggcctttcgcGcacacccacaaggcatctcc	8	18	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:61769311G>A	uc003xue.2	+	34	7949	c.7472G>A	c.(7471-7473)CGC>CAC	p.R2491H		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2491					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGCCTTTCGCGCACACCCACA	0.488													A	61769311	G	A	61769311	3	1	131	1	0	0	0	0	1	0	0	0	3330	1087	38	1	7602	1	CHD7	8	61769311	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	34725	61769311	84594711	906	77081											
YTHDF3	253943	broad.mit.edu	37	chr8	64098806	64098806	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagcagcgtggtccacagcTggagaccagcctatgccata	12	12	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:64098806T>C	uc003xuy.2	+	5	553	c.237T>C	c.(235-237)GCT>GCC	p.A79A	YTHDF3_uc010lys.2_Silent_p.A23A|YTHDF3_uc003xuz.2_Silent_p.A23A|YTHDF3_uc003xva.2_Silent_p.A23A|YTHDF3_uc011len.1_Silent_p.A23A	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	79											0	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			GGTCCACAGCTGGAGACCAGC	0.443													C	64098806	T	C	64098806	2	2	131	1	0	0	0	0	0	0	0	1	17497	1580	55	3		3	YTHDF3	8	64098806	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	2329495	64098806	82265216	907	77082											
BHLHE22	27319	broad.mit.edu	37	chr8	65493427	65493427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagagcctgagcgcctccaCctccaagcgcttggaagcgg	12	15	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:65493427C>T	uc003xvi.2	+	1	614	c.80C>T	c.(79-81)ACC>ATC	p.T27I	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						AGCGCCTCCACCTCCAAGCGC	0.741													T	65493427	C	T	65493427	3	4	131	1	0	0	0	0	1	0	0	0	1421	507	18	4	82	4	BHLHE22	8	65493427	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1394621	65493427	80870595	908	77083											
BHLHE22	27319	broad.mit.edu	37	chr8	65494354	65494354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagctgctgccctgcaccCggcgctcggcgcctacgagc	13	18	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:65494354C>T	uc003xvi.2	+	1	1541	c.1007C>T	c.(1006-1008)CCG>CTG	p.P336L	LOC401463_uc003xvh.2_5'UTR	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	336	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						GCCCTGCACCCGGCGCTCGGC	0.721													T	65494354	C	T	65494354	3	4	131	1	0	0	0	0	1	0	0	0	1421	652	23	1	1009	1	BHLHE22	8	65494354	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	927	65494354	80869668	909	77084											
DNAJC5B	85479	broad.mit.edu	37	chr8	66989096	66989096	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctacttcatgctgtcgagCtggtgggcaaaggtgaaact	12	9	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:66989096C>A	uc003xvs.1	+	4	612	c.321C>A	c.(319-321)AGC>AGA	p.S107R	DNAJC5B_uc003xvt.1_RNA	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	107					protein folding	membrane	heat shock protein binding|unfolded protein binding				0		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			TGCTGTCGAGCTGGTGGGCAA	0.433													A	66989096	C	A	66989096	3	1	131	1	0	0	0	0	1	0	0	0	4651	796	28	5	327	5	DNAJC5B	8	66989096	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1494742	66989096	79374926	910	77085											
PRDM14	63978	broad.mit.edu	37	chr8	70981995	70981995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtagtgtccataggacGggaaaggcgtgtagtacgcg	15	7	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:70981995G>A	uc003xym.2	-	2	303	c.101C>T	c.(100-102)CCG>CTG	p.P34L		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCCATAGGACGGGAAAGGCGT	0.652													A	70981995	G	A	70981995	3	1	131	1	0	0	0	0	1	0	0	0	12455	1116	39	1	1642	1	PRDM14	8	70981995	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	3992899	70981995	75382027	911	77086											
NCOA2	10499	broad.mit.edu	37	chr8	71074996	71074996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagattctccttcatgctgcGcatggaacttctgaatacac	7	12	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:71074996G>A	uc003xyn.1	-	9	1088	c.926C>T	c.(925-927)GCG>GTG	p.A309V		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	309					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TTCATGCTGCGCATGGAACTT	0.448			T	RUNXBP2	AML								A	71074996	G	A	71074996	3	1	131	1	0	0	0	0	1	0	0	0	10229	1087	38	1	3528	1	NCOA2	8	71074996	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	93001	71074996	75289026	912	77087											
TRAM1	23471	broad.mit.edu	37	chr8	71495950	71495950	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattttctgctcttgcaagGccaaaaccaacagtcagtac	7	11	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:71495950G>A	uc003xyo.1	-	9	995	c.825C>T	c.(823-825)GGC>GGT	p.G275G	TRAM1_uc011lfc.1_Silent_p.G244G	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	275	Lumenal (Potential).|TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			ovary(1)	1			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			CTCTTGCAAGGCCAAAACCAA	0.368													A	71495950	G	A	71495950	2	1	131	1	0	0	0	0	0	0	0	1	16448	1190	42	2		2	TRAM1	8	71495950	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	420954	71495950	74868072	913	77088											
EYA1	2138	broad.mit.edu	37	chr8	72127878	72127878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagcgagagtgctttcagGgccagtgtcaaccaggagtc	14	9	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:72127878G>A	uc003xys.3	-	14	1733	c.1446C>T	c.(1444-1446)GCC>GCT	p.A482A	EYA1_uc003xyr.3_Silent_p.A447A|EYA1_uc003xyt.3_Silent_p.A449A|EYA1_uc010lzf.2_Silent_p.A409A|EYA1_uc003xyu.2_Silent_p.A482A|EYA1_uc011lfe.1_Silent_p.A476A|EYA1_uc003xyv.2_Silent_p.A360A	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	482					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GTGCTTTCAGGGCCAGTGTCA	0.527													A	72127878	G	A	72127878	2	1	131	1	0	0	0	0	0	0	0	1	5328	1219	43	4		4	EYA1	8	72127878	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	631928	72127878	74236144	914	77089											
TRPA1	8989	broad.mit.edu	37	chr8	72964968	72964968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcaacggctttggcgtgGccttcccttgcagcaaagtg	13	12	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:72964968G>A	uc003xza.2	-	14	1852	c.1677C>T	c.(1675-1677)GGC>GGT	p.G559G	uc011lff.1_RNA|uc003xyy.2_RNA	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	559	Cytoplasmic (Potential).|ANK 14.					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	CTTTGGCGTGGCCTTCCCTTG	0.463													A	72964968	G	A	72964968	2	1	131	1	0	0	0	0	0	0	0	1	16574	1190	42	2		2	TRPA1	8	72964968	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	837090	72964968	73399054	915	77090											
ZFHX4	79776	broad.mit.edu	37	chr8	77617337	77617338	+	Frame_Shift_Ins	INS	-	-	A													ttataagctttctggaaccaINSaaaaaatccacttctgttta							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:77617336_77617337C>CA	uc003yau.2	+	1	1400_1401	c.1013_1014C>CA	c.(1012-1014)ccafs	p.P338fs	ZFHX4_uc003yat.1_Frame_Shift_Ins_p.P338fs|ZFHX4_uc003yaw.1_Frame_Shift_Ins_p.P338fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	338						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTCTGGAACCAAAAAAATCCA	0.431										HNSCC(33;0.089)			A	77617338	-	A	77617337	7	5	131	1	0	1	1	0	0	0	0	0	17632	117	5	0	1016	0	ZFHX4	8	77617337	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	4652369	77617337	68746685	916	77091											
ZFHX4	79776	broad.mit.edu	37	chr8	77767850	77767850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggatgacaacgccgaccGcagcgaaacgtccagcatag	11	15	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:77767850G>A	uc003yav.2	+	10	8945	c.8558G>A	c.(8557-8559)CGC>CAC	p.R2853H	ZFHX4_uc003yau.1_Missense_Mutation_p.R2898H|ZFHX4_uc003yaw.1_Missense_Mutation_p.R2853H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2853						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACGCCGACCGCAGCGAAACG	0.512										HNSCC(33;0.089)			A	77767850	G	A	77767850	3	1	131	1	0	0	0	0	1	0	0	0	17632	1087	38	1	8727	1	ZFHX4	8	77767850	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	150513	77767850	68596172	917	77092											
RALYL	138046	broad.mit.edu	37	chr8	85799864	85799864	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagaagaagcaattggaagaGagtctagtgctgatccaaga	12	6	1	5			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:85799864G>C	uc003ycq.3	+	9	1127	c.711G>C	c.(709-711)GAG>GAC	p.E237D	RALYL_uc003ycr.3_Missense_Mutation_p.E237D|RALYL_uc003ycs.3_Missense_Mutation_p.E237D|RALYL_uc010lzy.2_Missense_Mutation_p.E226D|RALYL_uc003yct.3_Missense_Mutation_p.E250D|RALYL_uc003ycu.3_Missense_Mutation_p.E164D|RALYL_uc003ycv.3_Intron	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like isoform 2	237	Potential.						identical protein binding|nucleotide binding|RNA binding			ovary(1)	1						AATTGGAAGAGAGTCTAGTGC	0.483													C	85799864	G	C	85799864	3	2	131	1	0	0	0	0	1	0	0	0	13020	933	33	5	780	5	RALYL	8	85799864	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	8032014	85799864	60564158	918	77093											
LRRCC1	85444	broad.mit.edu	37	chr8	86021867	86021867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagattcaactcttcatgccGtcaatcttcattgcaataac	4	11	6	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:86021867G>A	uc003ycw.2	+	2	296	c.142G>A	c.(142-144)GTC>ATC	p.V48I	LRRCC1_uc010lzz.1_Intron|LRRCC1_uc010maa.1_Intron|LRRCC1_uc003ycx.2_Intron|LRRCC1_uc003ycy.2_Missense_Mutation_p.V28I	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	48	LRR 1.				cell division|mitosis	centriole|nucleus					0						TCTTCATGCCGTCAATCTTCA	0.269													A	86021867	G	A	86021867	3	1	131	1	0	0	0	0	1	0	0	0	9026	1145	40	1	148	1	LRRCC1	8	86021867	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	222003	86021867	60342155	919	77094											
DCAF4L2	138009	broad.mit.edu	37	chr8	88886149	88886149	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgagtcccactctgactgtCtttttctgcttgtctgcttc	7	12	4	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:88886149C>A	uc003ydz.2	-	1	148	c.51G>T	c.(49-51)AAG>AAT	p.K17N		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	17										ovary(1)	1						CTCTGACTGTCTTTTTCTGCT	0.537													A	88886149	C	A	88886149	3	1	131	1	0	0	0	0	1	0	0	0	4272	912	32	5	1140	5	DCAF4L2	8	88886149	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2864282	88886149	57477873	920	77095											
MMP16	4325	broad.mit.edu	37	chr8	89086899	89086899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatactaggaggcaagccccGccagaagtaagtaatttgca	11	9	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:89086899G>A	uc003yeb.3	-	7	1438	c.1156C>T	c.(1156-1158)CGG>TGG	p.R386W	MMP16_uc003yec.2_Missense_Mutation_p.R386W	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	386	Extracellular (Potential).|Hemopexin-like 1.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						GGCAAGCCCCGCCAGAAGTAA	0.433													A	89086899	G	A	89086899	3	1	131	1	0	0	0	0	1	0	0	0	9655	1086	38	1	839	1	MMP16	8	89086899	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	200750	89086899	57277123	921	77096											
OSGIN2	734	broad.mit.edu	37	chr8	90937019	90937019	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctttgctgagaatgtagcGctggcaactggaacgctgga	13	9	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:90937019G>A	uc003yeg.2	+	6	1123	c.777G>A	c.(775-777)GCG>GCA	p.A259A	OSGIN2_uc003yeh.2_Silent_p.A303A	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family	259					germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AGAATGTAGCGCTGGCAACTG	0.433													A	90937019	G	A	90937019	2	1	131	1	0	0	0	0	0	0	0	1	11290	1074	38	1		1	OSGIN2	8	90937019	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1850120	90937019	55427003	922	77097											
SLC26A7	115111	broad.mit.edu	37	chr8	92352747	92352747	+	Frame_Shift_Del	DEL	A	A	-													ctcttgctcaaggatctgccAaaaaattcaaatattcaatt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:92352746_92352746CA>C	uc003yez.3	+	7	1232	c.993_993CA>C	c.(991-993)gccfs	p.A331fs	SLC26A7_uc003yex.3_Frame_Shift_Del_p.A331fs|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Frame_Shift_Del_p.A331fs	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	331						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.A331T(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AAGGATCTGCCAAAAAATTCA	0.507													-	92352747	A	-	92352747	7	5	131	1	0	1	0	1	0	0	0	0	14522	131	5	0	1020	0	SLC26A7	8	92352747	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	1415728	92352747	54011275	923	77098											
SLC26A7	115111	broad.mit.edu	37	chr8	92406218	92406218	+	Frame_Shift_Del	DEL	T	T	-													cctagactcagagaaaccaaTtttttttgaatcggtatctg					rs149495064		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:92406217_92406217AT>A	uc003yez.3	+	17	2124	c.1885_1885AT>A	c.(1885-1887)attfs	p.I629fs	SLC26A7_uc003yex.3_Frame_Shift_Del_p.I629fs|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Frame_Shift_Del_p.I629fs	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	629	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGAGAAACCAATTTTTTTTGA	0.338													-	92406218	T	-	92406218	7	5	131	1	0	1	0	1	0	0	0	0	14522	1493	52	0	1952	0	SLC26A7	8	92406218	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	53471	92406218	53957804	924	77099											
FAM92A1	137392	broad.mit.edu	37	chr8	94713478	94713478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaacgaaacaactgcaaaCagctgtctcaaatgtggaga	8	9	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:94713478C>T	uc010maq.2	+	2	156	c.53C>T	c.(52-54)ACA>ATA	p.T18I	FAM92A1_uc003yfu.1_RNA|FAM92A1_uc003yfv.3_RNA	NM_145269	NP_660312	A1XBS5	F92A1_HUMAN	hypothetical protein LOC137392	18											0	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CAACTGCAAACAGCTGTCTCA	0.453													T	94713478	C	T	94713478	3	4	131	1	0	0	0	0	1	0	0	0	5652	478	17	4	59	4	FAM92A1	8	94713478	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2307260	94713478	51650544	925	77100											
INTS8	55656	broad.mit.edu	37	chr8	95837126	95837126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttttaaaccctagatcctGcaccagttcaacttatagtt	4	11	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:95837126G>A	uc003yhb.2	+	2	262	c.136G>A	c.(136-138)GCA>ACA	p.A46T	INTS8_uc003yha.1_Missense_Mutation_p.A46T|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	46					snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					CCTAGATCCTGCACCAGTTCA	0.353													A	95837126	G	A	95837126	3	1	131	1	0	0	0	0	1	0	0	0	7784	1319	46	2	142	2	INTS8	8	95837126	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1123648	95837126	50526896	926	77101											
SDC2	6383	broad.mit.edu	37	chr8	97614732	97614732	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accacgacgctgaatatacaGaacaagatacctgctcagac	7	12	1	4	rs142924782		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:97614732G>T	uc003yhv.1	+	3	900	c.282G>T	c.(280-282)CAG>CAT	p.Q94H	SDC2_uc011lgu.1_Missense_Mutation_p.Q65H	NM_002998	NP_002989	P34741	SDC2_HUMAN	syndecan 2 precursor	94	Extracellular (Potential).					integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding			ovary(2)	2	Breast(36;3.41e-05)				Sargramostim(DB00020)	TGAATATACAGAACAAGATAC	0.423													T	97614732	G	T	97614732	3	4	131	1	0	0	0	0	1	0	0	0	13952	933	33	5	292	5	SDC2	8	97614732	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1777606	97614732	48749290	927	77102											
RGS22	26166	broad.mit.edu	37	chr8	101051172	101051172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgtacttgcgcttgcttgCatactttaaaaggctgaagt	9	8	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:101051172C>T	uc003yjb.1	-	14	2348	c.2153G>A	c.(2152-2154)TGC>TAC	p.C718Y	RGS22_uc003yja.1_Missense_Mutation_p.C537Y|RGS22_uc003yjc.1_Missense_Mutation_p.C706Y|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	718					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CGCTTGCTTGCATACTTTAAA	0.393													T	101051172	C	T	101051172	3	4	131	1	0	0	0	0	1	0	0	0	13305	710	25	2	1697	2	RGS22	8	101051172	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3436440	101051172	45312850	928	77103											
FBXO43	286151	broad.mit.edu	37	chr8	101146187	101146187	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaggctgttcggctacacAgtccccttttcttatatggc	8	13	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:101146187A>G	uc003yjd.2	-	5	2683	c.1970T>C	c.(1969-1971)CTG>CCG	p.L657P	FBXO43_uc003yje.2_Missense_Mutation_p.L623P	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	657	IBR-type.				meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TCGGCTACACAGTCCCCTTTT	0.448													G	101146187	A	G	101146187	3	3	131	1	0	0	0	0	1	0	0	0	5752	188	7	3	160	3	FBXO43	8	101146187	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	95015	101146187	45217835	929	77104											
GRHL2	79977	broad.mit.edu	37	chr8	102678915	102678915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggagggcttcaaggtcaCgctcatggaaatctagccct	13	10	4	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:102678915C>T	uc010mbu.2	+	16	2192	c.1862C>T	c.(1861-1863)ACG>ATG	p.T621M		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	transcription factor CP2-like 3	621						cytoplasm|nucleus	DNA binding			ovary(2)|skin(1)	3	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TTCAAGGTCACGCTCATGGAA	0.547													T	102678915	C	T	102678915	3	4	131	1	0	0	0	0	1	0	0	0	6764	536	19	1	1924	1	GRHL2	8	102678915	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1532728	102678915	43685107	930	77105											
UBR5	51366	broad.mit.edu	37	chr8	103323682	103323682	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgcaatctttggccattgGgtagatggtaccatttccat	9	9	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:103323682G>T	uc003ykr.1	-	20	2494	c.2461C>A	c.(2461-2463)CCA>ACA	p.P821T	UBR5_uc003yks.1_Missense_Mutation_p.P821T	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	821					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTGGCCATTGGGTAGATGGTA	0.378													T	103323682	G	T	103323682	3	4	131	1	0	0	0	0	1	0	0	0	16902	1232	43	5	6098	5	UBR5	8	103323682	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	644767	103323682	43040340	931	77106											
TM7SF4	81501	broad.mit.edu	37	chr8	105360820	105360821	+	Frame_Shift_Ins	INS	-	-	T													cactgatatcttcctaagtcINStttgggagatttacgtgtct							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:105360820_105360821insT	uc003ylx.1	+	2	89_90	c.40_41insT	c.(40-42)CTTfs	p.L14fs		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	14					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTCCTAAGTCTTTGGGAGATT	0.46													T	105360821	-	T	105360820	7	5	131	1	0	1	1	0	0	0	0	0	15973	913	32	0	42	0	TM7SF4	8	105360820	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	2037138	105360820	41003202	932	77107											
TM7SF4	81501	broad.mit.edu	37	chr8	105360884	105360884	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttatccagcatttgggagTttgctgtttggttgctctta	10	7	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:105360884T>C	uc003ylx.1	+	2	153	c.104T>C	c.(103-105)GTT>GCT	p.V35A		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	35	Helical; (Potential).				osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CATTTGGGAGTTTGCTGTTTG	0.517													C	105360884	T	C	105360884	3	2	131	1	0	0	0	0	1	0	0	0	15973	1725	60	3	106	3	TM7SF4	8	105360884	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	64	105360884	41003138	933	77108											
LRP12	29967	broad.mit.edu	37	chr8	105509257	105509257	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacatcccaatgctatgacgAgtaacaggccacagatgagg	10	10	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:105509257A>G	uc003yma.2	-	5	1618	c.1523T>C	c.(1522-1524)CTC>CCC	p.L508P	LRP12_uc003ymb.2_Missense_Mutation_p.L489P|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	508	Helical; (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGCTATGACGAGTAACAGGCC	0.458													G	105509257	A	G	105509257	3	3	131	1	0	0	0	0	1	0	0	0	8954	304	11	3	1068	3	LRP12	8	105509257	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	148373	105509257	40854765	934	77109											
KCNV1	27012	broad.mit.edu	37	chr8	110980553	110980553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgttaataatagcaatagGcaaggccaagacaagaattc	8	7	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:110980553G>A	uc003ynr.3	-	3	1609	c.1267C>T	c.(1267-1269)CCT>TCT	p.P423S	KCNV1_uc010mcw.2_Missense_Mutation_p.P423S	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	423	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ATAGCAATAGGCAAGGCCAAG	0.448													A	110980553	G	A	110980553	3	1	131	1	0	0	0	0	1	0	0	0	8094	1203	42	2	239	2	KCNV1	8	110980553	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	5471296	110980553	35383469	935	77110											
CSMD3	114788	broad.mit.edu	37	chr8	113318290	113318290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttccatctgattggcataCagctgtagtgagttctttgg	11	7	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:113318290C>T	uc003ynu.2	-	51	8176	c.8017G>A	c.(8017-8019)GTA>ATA	p.V2673I	CSMD3_uc003yns.2_Missense_Mutation_p.V1875I|CSMD3_uc003ynt.2_Missense_Mutation_p.V2633I|CSMD3_uc011lhx.1_Missense_Mutation_p.V2569I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2673	Extracellular (Potential).|Sushi 15.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GATTGGCATACAGCTGTAGTG	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113318290	C	T	113318290	3	4	131	1	0	0	0	0	1	0	0	0	3946	478	17	4	3190	4	CSMD3	8	113318290	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2337737	113318290	33045732	936	77111											
EXT1	2131	broad.mit.edu	37	chr8	118830694	118830694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgctctctccttcaatgaCgacgacaggcacagcagtgg	10	13	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:118830694C>T	uc003yok.1	-	7	2385	c.1612G>A	c.(1612-1614)GTC>ATC	p.V538I		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	538	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CCTTCAATGACGACGACAGGC	0.527			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				T	118830694	C	T	118830694	3	4	131	1	0	0	0	0	1	0	0	0	5323	536	19	1	648	1	EXT1	8	118830694	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	5512404	118830694	27533328	937	77112											
ENPP2	5168	broad.mit.edu	37	chr8	120612982	120612982	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcagaatagaaggcatagAccgaaggcctataagaaaat	10	7	1	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:120612982A>G	uc003yot.1	-	11	994	c.908T>C	c.(907-909)GTC>GCC	p.V303A	ENPP2_uc003yos.1_Missense_Mutation_p.V303A|ENPP2_uc010mdd.1_Missense_Mutation_p.V303A	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	autotaxin isoform 2 preproprotein	303					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GAAGGCATAGACCGAAGGCCT	0.378													G	120612982	A	G	120612982	3	3	131	1	0	0	0	0	1	0	0	0	5130	275	10	3	1982	3	ENPP2	8	120612982	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1782288	120612982	25751040	938	77113											
DEPDC6	64798	broad.mit.edu	37	chr8	121013857	121013857	+	Frame_Shift_Del	DEL	A	A	-													actgatggagctgctcaatgAaaagtccccctcctcccagg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:121013857delA	uc003yow.3	+	5	885	c.698delA	c.(697-699)GAAfs	p.E233fs	DEPDC6_uc011lid.1_Frame_Shift_Del_p.E132fs	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	DEP domain containing 6	233					intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding				0	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTGCTCAATGAAAAGTCCCCC	0.512													-	121013857	A	-	121013857	7	5	131	1	0	1	0	1	0	0	0	0	4443	246	9	0	716	0	DEPDC6	8	121013857	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	400875	121013857	25350165	939	77114											
DEPDC6	64798	broad.mit.edu	37	chr8	121015280	121015280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcatgagcagctgtggCagcagcggctacttcagcag	14	11	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:121015280C>T	uc003yow.3	+	6	1042	c.855C>T	c.(853-855)GGC>GGT	p.G285G	DEPDC6_uc011lid.1_Silent_p.G184G	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	DEP domain containing 6	285	Ser-rich.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding				0	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			gcagctgtggcagcagcggct	0.393													T	121015280	C	T	121015280	2	4	131	1	0	0	0	0	0	0	0	1	4443	697	25	2		2	DEPDC6	8	121015280	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1423	121015280	25348742	940	77115											
MTSS1	9788	broad.mit.edu	37	chr8	125565529	125565529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgaggagggcatgctggTgacaccttgggggccctcac	15	11	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:125565529T>C	uc003yrk.2	-	14	2506	c.1972A>G	c.(1972-1974)ACC>GCC	p.T658A	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.T307A|MTSS1_uc011lin.1_Missense_Mutation_p.T432A|MTSS1_uc011lio.1_Missense_Mutation_p.T548A|MTSS1_uc003yri.2_Missense_Mutation_p.T376A|MTSS1_uc003yrj.2_Missense_Mutation_p.T633A|MTSS1_uc003yrl.2_Missense_Mutation_p.T662A	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	658	Pro-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGCATGCTGGTGACACCTTGG	0.637													C	125565529	T	C	125565529	3	2	131	1	0	0	0	0	1	0	0	0	9962	1696	59	3	299	3	MTSS1	8	125565529	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	4550249	125565529	20798493	941	77116											
KIAA0196	9897	broad.mit.edu	37	chr8	126044624	126044624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaccgggtcggtcggttttCggcagaccattcctgcaagg	13	12	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:126044624C>T	uc003yrt.2	-	27	3523	c.3194G>A	c.(3193-3195)CGA>CAA	p.R1065Q	KIAA0196_uc011lir.1_Missense_Mutation_p.R917Q|KIAA0196_uc003yru.1_Intron	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	1065					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GGTCGGTTTTCGGCAGACCAT	0.507													T	126044624	C	T	126044624	3	4	131	1	0	0	0	0	1	0	0	0	8161	884	31	1	297	1	KIAA0196	8	126044624	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	479095	126044624	20319398	942	77117											
MYC	4609	broad.mit.edu	37	chr8	128750777	128750777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagacaacgacggcggtgGcgggagcttctccacggccg	18	12	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:128750777G>A	uc003ysh.1	+	3	782	c.269G>A	c.(268-270)GGC>GAC	p.G90D	MYC_uc003ysi.2_Missense_Mutation_p.G105D	NM_002467	NP_002458	P01106	MYC_HUMAN	myc proto-oncogene protein	90	Poly-Gly.				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		GACGGCGGTGGCGGGAGCTTC	0.677		3	A|T	IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@	Burkitt lymphoma| amplified in other cancers|B-CLL						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	128750777	G	A	128750777	3	1	131	1	0	0	0	0	1	0	0	0	10016	1203	42	2	320	2	MYC	8	128750777	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2706153	128750777	17613245	943	77118											
ASAP1	50807	broad.mit.edu	37	chr8	131149264	131149264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcaggtgagaaggttcaaCttggctggttgcctgttaga	15	6	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:131149264C>T	uc003yta.1	-	13	1129	c.1101G>A	c.(1099-1101)AAG>AAA	p.K367K	ASAP1_uc003ysz.1_Silent_p.K178K|ASAP1_uc011liw.1_Silent_p.K360K	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	367	PH.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						GAAGGTTCAACTTGGCTGGTT	0.438													T	131149264	C	T	131149264	2	4	131	1	0	0	0	0	0	0	0	1	1010	564	20	4		4	ASAP1	8	131149264	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2398487	131149264	15214758	944	77119											
ADCY8	114	broad.mit.edu	37	chr8	131792669	131792669	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatttgtcggtgccttcagcCtgggctccaggctctgtgcc	13	13	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:131792669C>A	uc003ytd.3	-	18	3979	c.3723G>T	c.(3721-3723)CAG>CAT	p.Q1241H	ADCY8_uc010mds.2_Missense_Mutation_p.Q1110H	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	1241	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGCCTTCAGCCTGGGCTCCAG	0.363										HNSCC(32;0.087)			A	131792669	C	A	131792669	3	1	131	1	0	0	0	0	1	0	0	0	300	680	24	5	36	5	ADCY8	8	131792669	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	643405	131792669	14571353	945	77120											
ADCY8	114	broad.mit.edu	37	chr8	131880110	131880110	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accttgaagaaggaagcaaaCtttgtattgccgtgataaat	9	6	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:131880110C>A	uc003ytd.3	-	9	2448	c.2192G>T	c.(2191-2193)AGT>ATT	p.S731I	ADCY8_uc010mds.2_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	731	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGGAAGCAAACTTTGTATTGC	0.353										HNSCC(32;0.087)			A	131880110	C	A	131880110	3	1	131	1	0	0	0	0	1	0	0	0	300	565	20	5	1603	5	ADCY8	8	131880110	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	87441	131880110	14483912	946	77121											
TG	7038	broad.mit.edu	37	chr8	133911046	133911046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctctctctcccacaggccCgacaacctgcgagaaatctc	6	18	3	1	rs145085612		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:133911046C>T	uc003ytw.2	+	14	3262	c.3221C>T	c.(3220-3222)CCG>CTG	p.P1074L	TG_uc010mdw.2_5'UTR	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1074	Thyroglobulin type-1 9.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCCACAGGCCCGACAACCTGC	0.343													T	133911046	C	T	133911046	3	4	131	1	0	0	0	0	1	0	0	0	15810	652	23	1	3275	1	TG	8	133911046	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2030936	133911046	12452976	947	77122											
ZFAT	57623	broad.mit.edu	37	chr8	135521887	135521887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaccacagtcaccgtccctGgtgccatggcaaccaccgag	9	16	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:135521887G>A	uc003yup.2	-	15	3642	c.3467C>T	c.(3466-3468)CCA>CTA	p.P1156L	ZFAT_uc011ljj.1_Missense_Mutation_p.P275L|ZFAT_uc003yun.2_Missense_Mutation_p.P1144L|ZFAT_uc003yuo.2_Missense_Mutation_p.P1144L|ZFAT_uc010meh.2_Intron|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.P1144L|ZFAT_uc010mej.2_Missense_Mutation_p.P1094L	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	1156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CACCGTCCCTGGTGCCATGGC	0.577													A	135521887	G	A	135521887	3	1	131	1	0	0	0	0	1	0	0	0	17629	1348	47	4	272	4	ZFAT	8	135521887	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1610841	135521887	10842135	948	77123											
COL22A1	169044	broad.mit.edu	37	chr8	139703108	139703108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgggggcaccgacatgtcCgggagcaccctgttcagaga	14	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:139703108C>T	uc003yvd.2	-	36	3211	c.2764G>A	c.(2764-2766)GGA>AGA	p.G922R	COL22A1_uc011ljo.1_Missense_Mutation_p.G222R	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	922	Pro-rich.|Gly-rich.|Collagen-like 7.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G922R(1)		ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCGACATGTCCGGGAGCACCC	0.532										HNSCC(7;0.00092)			T	139703108	C	T	139703108	3	4	131	1	0	0	0	0	1	0	0	0	3681	661	23	1	2236	1	COL22A1	8	139703108	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4181221	139703108	6660914	949	77124											
EIF2C2	27161	broad.mit.edu	37	chr8	141561492	141561492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgtggaactgcttgttcCgcatgtcccagacgccctgg	12	14	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:141561492C>T	uc003yvn.2	-	11	1353	c.1313G>A	c.(1312-1314)CGG>CAG	p.R438Q	EIF2C2_uc010men.2_Missense_Mutation_p.R361Q|EIF2C2_uc010meo.2_Missense_Mutation_p.R438Q	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	438					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			CTGCTTGTTCCGCATGTCCCA	0.537													T	141561492	C	T	141561492	3	4	131	1	0	0	0	0	1	0	0	0	5006	652	23	1	1302	1	EIF2C2	8	141561492	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1858384	141561492	4802530	950	77125											
PTK2	5747	broad.mit.edu	37	chr8	141889676	141889676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccgcaggtgactgaggcGgaatccatagcaggccacat	13	11	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:141889676G>A	uc003yvu.2	-	4	486	c.256C>T	c.(256-258)CGC>TGC	p.R86C	PTK2_uc003yvr.2_5'UTR|PTK2_uc003yvs.2_Missense_Mutation_p.R86C|PTK2_uc003yvt.2_Missense_Mutation_p.R108C|PTK2_uc003yvv.2_Intron|PTK2_uc011ljr.1_Missense_Mutation_p.R86C	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	86	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGACTGAGGCGGAATCCATAG	0.502													A	141889676	G	A	141889676	3	1	131	1	0	0	0	0	1	0	0	0	12762	1116	39	1	3018	1	PTK2	8	141889676	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	328184	141889676	4474346	951	77126											
DENND3	22898	broad.mit.edu	37	chr8	142178549	142178549	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatgcagctgggcgacttcAtgaagcgggtccaggagtca	14	10	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:142178549A>G	uc003yvy.2	+	13	2238	c.1960A>G	c.(1960-1962)ATG>GTG	p.M654V	DENND3_uc010mep.2_Missense_Mutation_p.M615V|DENND3_uc003yvz.1_Missense_Mutation_p.M338V	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	654										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCGACTTCATGAAGCGGGT	0.587													G	142178549	A	G	142178549	3	3	131	1	0	0	0	0	1	0	0	0	4432	217	8	3	2006	3	DENND3	8	142178549	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	288873	142178549	4185473	952	77127											
SLC45A4	57210	broad.mit.edu	37	chr8	142222398	142222398	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgccttcgccggccaaCggggaagacaggcctttctg	13	15	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:142222398C>T	uc003ywd.1	-	7	2354	c.2046G>A	c.(2044-2046)CCG>CCA	p.P682P	SLC45A4_uc003ywc.1_Silent_p.P682P|SLC45A4_uc010meq.1_Silent_p.P680P	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	733					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGCCGGCCAACGGGGAAGACA	0.637													T	142222398	C	T	142222398	2	4	131	1	0	0	0	0	0	0	0	1	14643	523	19	1		1	SLC45A4	8	142222398	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	43849	142222398	4141624	953	77128											
SLC45A4	57210	broad.mit.edu	37	chr8	142222470	142222470	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagatcaccaggaatgtggcCgtcaggaagcccaggaaaga	13	9	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:142222470C>T	uc003ywd.1	-	7	2282	c.1974G>A	c.(1972-1974)ACG>ACA	p.T658T	SLC45A4_uc003ywc.1_Silent_p.T658T|SLC45A4_uc010meq.1_Silent_p.T656T	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	709	Helical; (Potential).				transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGAATGTGGCCGTCAGGAAGC	0.657													T	142222470	C	T	142222470	2	4	131	1	0	0	0	0	0	0	0	1	14643	639	23	1		1	SLC45A4	8	142222470	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	72	142222470	4141552	954	77129											
FLJ43860	389690	broad.mit.edu	37	chr8	142446116	142446116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccctgtctgccatggccGccaccaggtccccgaacagt	10	18	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:142446116G>A	uc003ywi.2	-	28	3533	c.3452C>T	c.(3451-3453)GCG>GTG	p.A1151V	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	1151							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGCCATGGCCGCCACCAGGTC	0.687													A	142446116	G	A	142446116	3	1	131	1	0	0	0	0	1	0	0	0	5930	1087	38	1	524	1	FLJ43860	8	142446116	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	223646	142446116	3917906	955	77130											
JRK	8629	broad.mit.edu	37	chr8	143745980	143745980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggctgccgctccgcaaagCgcaggactgcgtcaaaggcc	13	14	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:143745980C>T	uc003ywo.2	-	3	2010	c.1496G>A	c.(1495-1497)CGC>CAC	p.R499H	JRK_uc003ywp.2_Missense_Mutation_p.R499H|JRK_uc010mew.1_Missense_Mutation_p.A500T	NM_001077527	NP_001070995			jerky isoform b												0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				ctccgcaaagcgcaggactgc	0.184													T	143745980	C	T	143745980	3	4	131	1	0	0	0	0	1	0	0	0	7964	768	27	1	308	1	JRK	8	143745980	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1299864	143745980	2618042	956	77131											
LY6H	4062	broad.mit.edu	37	chr8	144239836	144239836	+	Frame_Shift_Del	DEL	A	A	-													accccatcagatagtctgagAaaaagtgtcgcttaacgaag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:144239835_144239835GA>G	uc003yxt.3	-	2	1116	c.369_369TC>C	c.(367-369)ttcfs	p.F123fs	LY6H_uc011lka.2_Frame_Shift_Del_p.F85fs|LY6H_uc011lkb.2_Frame_Shift_Del_p.F106fs|LY6H_uc011lkc.2_Frame_Shift_Del_p.F106fs			O94772	LY6H_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus H (LY6H), transcript variant 3, mRNA.	85					nervous system development|organ morphogenesis	anchored to membrane|plasma membrane				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GATAGTCTGAGAAAAAGTGTC	0.547													-	144239836	A	-	144239836	7	5	131	1	0	1	0	1	0	0	0	0	9097	246	9	0	172	0	LY6H	8	144239836	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	493856	144239836	2124186	957	77132											
TOP1MT	116447	broad.mit.edu	37	chr8	144397975	144397975	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcctcagccacctgcTccttctttgcctggatctgc	8	18	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:144397975T>C	uc003yxz.2	-	12	1494	c.1475A>G	c.(1474-1476)GAG>GGG	p.E492G	TOP1MT_uc011lkd.1_Missense_Mutation_p.E394G|TOP1MT_uc011lke.1_Missense_Mutation_p.E394G|TOP1MT_uc010mfb.2_Missense_Mutation_p.E394G|TOP1MT_uc011lkf.1_Missense_Mutation_p.E287G	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	492					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	AGCCACCTGCTCCTTCTTTGC	0.652													C	144397975	T	C	144397975	3	2	131	1	0	0	0	0	1	0	0	0	16361	1551	54	3	342	3	TOP1MT	8	144397975	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	158139	144397975	1966047	958	77133											
RHPN1	114822	broad.mit.edu	37	chr8	144463997	144463997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctggcctgaaggagggCgactacattgtgtcagtgaa	16	8	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:144463997C>T	uc003yyb.2	+	14	1789	c.1656C>T	c.(1654-1656)GGC>GGT	p.G552G		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	rhophilin 1	577	PDZ.				signal transduction	intracellular				large_intestine(1)	1	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			TGAAGGAGGGCGACTACATTG	0.682													T	144463997	C	T	144463997	2	4	131	1	0	0	0	0	0	0	0	1	13350	755	27	1		1	RHPN1	8	144463997	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	66022	144463997	1900025	959	77134											
SCRIB	23513	broad.mit.edu	37	chr8	144885638	144885638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgcggagcagctgcaccGcctcgccgtgcgtcaggccc	13	18	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:144885638G>A	uc003yzp.1	-	24	3525	c.3518C>T	c.(3517-3519)GCG>GTG	p.A1173V	SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.A1173V	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1173	PDZ 4.|Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CAGCTGCACCGCCTCGCCGTG	0.706													A	144885638	G	A	144885638	3	1	131	1	0	0	0	0	1	0	0	0	13937	1087	38	1	1505	1	SCRIB	8	144885638	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	421641	144885638	1478384	960	77135											
SCRIB	23513	broad.mit.edu	37	chr8	144890805	144890805	+	Frame_Shift_Del	DEL	C	C	-													agagggcgcagaaaccacggCcccctccttgtcctcctcct							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:144890804_144890804GC>G	uc003yzp.1	-	14	2097	c.2090_2090GC>C	c.(2089-2091)gccfs	p.A697fs	SCRIB_uc003yzo.1_Frame_Shift_Del_p.A697fs	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	697	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGAAACCACGGCCCCCTCCTT	0.637													-	144890805	C	-	144890805	7	5	131	1	0	1	0	1	0	0	0	0	13937	739	26	0	2970	0	SCRIB	8	144890805	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	5167	144890805	1473217	961	77136											
EPPK1	83481	broad.mit.edu	37	chr8	144940551	144940551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggatctcgccgcccaccaCgcccgcggccacggcctcct	10	22	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:144940551C>T	uc003zaa.1	-	2	14894	c.14881G>A	c.(14881-14883)GTG>ATG	p.V4961M		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	4961	Plectin 62.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGCCCACCACGCCCGCGGCC	0.721													T	144940551	C	T	144940551	3	4	131	1	0	0	0	0	1	0	0	0	5190	536	19	1	395	1	EPPK1	8	144940551	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	49746	144940551	1423471	962	77137											
EPPK1	83481	broad.mit.edu	37	chr8	144945127	144945127	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttggggtcgaagaagccCttggtgtcgtcagaagggtc	17	7	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:144945127C>T	uc003zaa.1	-	1	2308	c.2295G>A	c.(2293-2295)AAG>AAA	p.K765K		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	765	Plectin 15.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGAAGAAGCCCTTGGTGTCGT	0.627													T	144945127	C	T	144945127	2	4	131	1	0	0	0	0	0	0	0	1	5190	680	24	4		4	EPPK1	8	144945127	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4576	144945127	1418895	963	77138											
PLEC	5339	broad.mit.edu	37	chr8	144991738	144991738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaagcccttggtgtcgtccGaggggtcggtcaggatctcg	16	10	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:144991738G>A	uc003zaf.1	-	32	12832	c.12662C>T	c.(12661-12663)TCG>TTG	p.S4221L	PLEC_uc003zab.1_Missense_Mutation_p.S4084L|PLEC_uc003zac.1_Missense_Mutation_p.S4088L|PLEC_uc003zad.2_Missense_Mutation_p.S4084L|PLEC_uc003zae.1_Missense_Mutation_p.S4052L|PLEC_uc003zag.1_Missense_Mutation_p.S4062L|PLEC_uc003zah.2_Missense_Mutation_p.S4070L|PLEC_uc003zaj.2_Missense_Mutation_p.S4111L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4221	Plectin 26.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GGTGTCGTCCGAGGGGTCGGT	0.612													A	144991738	G	A	144991738	3	1	131	1	0	0	0	0	1	0	0	0	12052	1059	37	1	1396	1	PLEC	8	144991738	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	46611	144991738	1372284	964	77139											
PLEC	5339	broad.mit.edu	37	chr8	144998487	144998487	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctggaaggcctcgtcctcCgccagccgccgcaggcgctc	13	19	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:144998487C>T	uc003zaf.1	-	31	6191	c.6021G>A	c.(6019-6021)GCG>GCA	p.A2007A	PLEC_uc003zab.1_Silent_p.A1870A|PLEC_uc003zac.1_Silent_p.A1874A|PLEC_uc003zad.2_Silent_p.A1870A|PLEC_uc003zae.1_Silent_p.A1838A|PLEC_uc003zag.1_Silent_p.A1848A|PLEC_uc003zah.2_Silent_p.A1856A|PLEC_uc003zaj.2_Silent_p.A1897A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2007	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCTCGTCCTCCGCCAGCCGCC	0.706													T	144998487	C	T	144998487	2	4	131	1	0	0	0	0	0	0	0	1	12052	639	23	1		1	PLEC	8	144998487	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	6749	144998487	1365535	965	77140											
PARP10	84875	broad.mit.edu	37	chr8	145051982	145051982	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctggcgaaatacacgccCttcccgtagaccgtggctgc	11	16	0	1	rs141748737		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:145051982C>T	uc003zal.3	-	11	2856	c.2748G>A	c.(2746-2748)AAG>AAA	p.K916K	PLEC_uc003zaj.2_5'Flank|PARP10_uc003zak.3_Silent_p.K613K|PARP10_uc011lku.1_Silent_p.K928K|PARP10_uc011lkv.1_RNA	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	916	PARP catalytic.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AATACACGCCCTTCCCGTAGA	0.711													T	145051982	C	T	145051982	2	4	131	1	0	0	0	0	0	0	0	1	11455	680	24	4		4	PARP10	8	145051982	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	53495	145051982	1312040	966	77141											
PARP10	84875	broad.mit.edu	37	chr8	145059956	145059956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggggctggccaaggcacaGcaaggctgtactgggagccc	17	12	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:145059956G>A	uc003zal.3	-	3	477	c.369C>T	c.(367-369)TGC>TGT	p.C123C	PARP10_uc003zak.3_5'Flank|PARP10_uc011lku.1_Silent_p.C135C|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Silent_p.C123C|PARP10_uc010mfn.1_Intron|PARP10_uc010mfo.1_Missense_Mutation_p.A16V	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	123						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAAGGCACAGCAAGGCTGTA	0.687													A	145059956	G	A	145059956	2	1	131	1	0	0	0	0	0	0	0	1	11455	963	34	2		2	PARP10	8	145059956	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	7974	145059956	1304066	967	77142											
SPATC1	375686	broad.mit.edu	37	chr8	145101650	145101650	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgggcgggtgcaccctgcGctgaccgagcagctggtgaa	16	12	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:145101650G>A	uc011lkw.1	+	5	1671	c.1569G>A	c.(1567-1569)GCG>GCA	p.A523A	SPATC1_uc011lkx.1_3'UTR	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	523										ovary(1)|central_nervous_system(1)	2	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCACCCTGCGCTGACCGAGC	0.642													A	145101650	G	A	145101650	2	1	131	1	0	0	0	0	0	0	0	1	15016	1074	38	1		1	SPATC1	8	145101650	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	41694	145101650	1262372	968	77143											
OPLAH	26873	broad.mit.edu	37	chr8	145113475	145113475	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgaggtaggcgtcggcaCaggccgtgtgcccccgaggg	19	12	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:145113475C>A	uc003zar.3	-	6	789	c.707G>T	c.(706-708)TGT>TTT	p.C236F	OPLAH_uc003zat.1_Missense_Mutation_p.C14F	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	236							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GGCGTCGGCACAGGCCGTGTG	0.687													A	145113475	C	A	145113475	3	1	131	1	0	0	0	0	1	0	0	0	10876	478	17	5	3249	5	OPLAH	8	145113475	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	11825	145113475	1250547	969	77144											
CPSF1	29894	broad.mit.edu	37	chr8	145619493	145619493	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatgaagtccacgctgTacacctccaggggcttggca	10	15	0	1	rs141624286		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:145619493T>C	uc003zcj.2	-	33	3842	c.3767A>G	c.(3766-3768)TAC>TGC	p.Y1256C	MIR939_hsa-mir-939|MI0005761_5'Flank	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	1256					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	p.Y1256C(1)		skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GTCCACGCTGTACACCTCCAG	0.677													C	145619493	T	C	145619493	3	2	131	1	0	0	0	0	1	0	0	0	3824	1638	57	3	588	3	CPSF1	8	145619493	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	506018	145619493	744529	970	77145											
CPSF1	29894	broad.mit.edu	37	chr8	145623706	145623706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctacctccttccagcaggCggatgcccagtggtgacact	10	15	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:145623706C>T	uc003zcj.2	-	19	1955	c.1880G>A	c.(1879-1881)CGC>CAC	p.R627H		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	627					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TTCCAGCAGGCGGATGCCCAG	0.662													T	145623706	C	T	145623706	3	4	131	1	0	0	0	0	1	0	0	0	3824	768	27	1	2531	1	CPSF1	8	145623706	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4213	145623706	740316	971	77146											
SLC39A4	55630	broad.mit.edu	37	chr8	145640738	145640738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagggcagccaggacgccGccagcactgcccggagcccc	14	18	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:145640738G>A	uc003zcq.2	-	3	640	c.540C>T	c.(538-540)GGC>GGT	p.G180G	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.2_5'Flank|SLC39A4_uc003zco.2_5'UTR|SLC39A4_uc003zcp.2_Silent_p.G155G	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	180	Extracellular (Potential).					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CCAGGACGCCGCCAGCACTGC	0.667													A	145640738	G	A	145640738	2	1	131	1	0	0	0	0	0	0	0	1	14620	1074	38	1		1	SLC39A4	8	145640738	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	17032	145640738	723284	972	77147											
MFSD3	113655	broad.mit.edu	37	chr8	145735316	145735316	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccccttccgagcagcgtccCcacaccgcgcaccttctgcg	8	22	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:145735316C>A	uc003zdi.1	+	1	765	c.600C>A	c.(598-600)CCC>CCA	p.P200P		NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing	200	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGCAGCGTCCCCACACCGCGC	0.706											OREG0019059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	145735316	C	A	145735316	2	1	131	1	0	0	0	0	0	0	0	1	9532	610	22	5		5	MFSD3	8	145735316	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	94578	145735316	628706	973	77148											
ARHGAP39	80728	broad.mit.edu	37	chr8	145757727	145757727	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcctgtgggcaccttcCactggtccacctgcagcttc	10	17	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr8:145757727C>T	uc003zdt.1	-	10	3404	c.2849G>A	c.(2848-2850)TGG>TAG	p.W950*	ARHGAP39_uc011llk.1_Nonsense_Mutation_p.W950*|ARHGAP39_uc003zds.1_Nonsense_Mutation_p.W981*	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	950	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						GGGCACCTTCCACTGGTCCAC	0.667													T	145757727	C	T	145757727	4	4	131	1	0	0	0	0	0	1	0	0	884	595	21	4	414	4	ARHGAP39	8	145757727	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	22411	145757727	606295	974	77149											
DMRT1	1761	broad.mit.edu	37	chr9	847112	847112	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggcacctctcagccaccGccggccagtgtccccaccac	9	20	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:847112G>A	uc003zgv.2	+	2	656	c.507G>A	c.(505-507)CCG>CCA	p.P169P	DMRT1_uc003zgu.1_Silent_p.P169P	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor	169					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		CTCAGCCACCGCCGGCCAGTG	0.617													A	847112	G	A	847112	2	1	131	1	0	0	0	0	0	0	0	1	4585	1074	38	1		1	DMRT1	9	847112	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08		847112	140366319	975	77150											
SMARCA2	6595	broad.mit.edu	37	chr9	2123753	2123753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcggagggaagatgcccGgaacccgaaacggaagcccc	15	14	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:2123753G>A	uc003zhc.2	+	27	3896	c.3797G>A	c.(3796-3798)CGG>CAG	p.R1266Q	SMARCA2_uc003zhd.2_Missense_Mutation_p.R1266Q|SMARCA2_uc010mha.2_Missense_Mutation_p.R1199Q	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1266					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GAAGATGCCCGGAACCCGAAA	0.542													A	2123753	G	A	2123753	3	1	131	1	0	0	0	0	1	0	0	0	14769	1116	39	1	3899	1	SMARCA2	9	2123753	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1276641	2123753	139089678	976	77151											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18777506	18777506	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcccgaggagctgcgCgacctctacagcaagcacct	11	16	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:18777506C>T	uc003zne.3	+	19	3406	c.3279C>T	c.(3277-3279)CGC>CGT	p.R1093R		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	1093						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		AGGAGCTGCGCGACCTCTACA	0.667													T	18777506	C	T	18777506	2	4	131	1	0	0	0	0	0	0	0	1	274	755	27	1		1	ADAMTSL1	9	18777506	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	16653753	18777506	122435925	977	77152											
HAUS6	54801	broad.mit.edu	37	chr9	19070224	19070224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatttgttttacctgttggCtagatcatgtagcgctccca	8	9	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:19070224C>T	uc003znk.2	-	12	1622	c.1369G>A	c.(1369-1371)GCC>ACC	p.A457T	HAUS6_uc011lmz.1_Missense_Mutation_p.A177T|HAUS6_uc003znl.1_Missense_Mutation_p.A321T|HAUS6_uc003znm.1_Missense_Mutation_p.A212T	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	457					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2						TACCTGTTGGCTAGATCATGT	0.274													T	19070224	C	T	19070224	3	4	131	1	0	0	0	0	1	0	0	0	6970	797	28	2	1522	2	HAUS6	9	19070224	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	292718	19070224	122143207	978	77153											
ACER2	340485	broad.mit.edu	37	chr9	19450475	19450475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatctgccttgctgcctaCctgggctgtgtatgctttgc	10	13	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:19450475C>T	uc003zny.1	+	6	827	c.669C>T	c.(667-669)TAC>TAT	p.Y223Y	ACER2_uc003znx.1_RNA|ACER2_uc003znz.1_Silent_p.Y174Y	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	223	Helical; (Potential).				ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						TTGCTGCCTACCTGGGCTGTG	0.532													T	19450475	C	T	19450475	2	4	131	1	0	0	0	0	0	0	0	1	139	518	18	4		4	ACER2	9	19450475	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	380251	19450475	121762956	979	77154											
ELAVL2	1993	broad.mit.edu	37	chr9	23692861	23692861	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccaaactggtcattccGtcaatggtcattggagaaaa	9	10	3	1	rs138657080	by1000genomes	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:23692861G>A	uc003zpu.2	-	7	1049	c.774C>T	c.(772-774)GAC>GAT	p.D258D	ELAVL2_uc003zps.2_Silent_p.D245D|ELAVL2_uc003zpt.2_Silent_p.D245D|ELAVL2_uc003zpv.2_Silent_p.D258D|ELAVL2_uc003zpw.2_Silent_p.D245D	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	258					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TGGTCATTCCGTCAATGGTCA	0.423													A	23692861	G	A	23692861	2	1	131	1	0	0	0	0	0	0	0	1	5050	1136	40	1		1	ELAVL2	9	23692861	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	4242386	23692861	117520570	980	77155											
C9orf82	79886	broad.mit.edu	37	chr9	26884837	26884837	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatcagatcccatcttagaAccatcatctgcttcctcttc	3	14	5	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:26884837A>G	uc003zqc.2	-	4	648	c.636T>C	c.(634-636)GGT>GGC	p.G212G	C9orf82_uc003zqb.2_Silent_p.G67G	NM_024828	NP_079104	Q9H8G2	CI082_HUMAN	hypothetical protein LOC79886	212											0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(42;1.39e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		CCATCTTAGAACCATCATCTG	0.299													G	26884837	A	G	26884837	2	3	131	1	0	0	0	0	0	0	0	1	2499	30	2	3		3	C9orf82	9	26884837	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	3191976	26884837	114328594	981	77156											
DDX58	23586	broad.mit.edu	37	chr9	32487537	32487537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactgttgctatcactgacGcatcaagagaagcacacagc	9	11	2	3	rs139635230		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:32487537G>A	uc003zra.2	-	9	1465	c.1307C>T	c.(1306-1308)GCG>GTG	p.A436V	DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Missense_Mutation_p.A391V|DDX58_uc011lnr.1_Missense_Mutation_p.A233V|DDX58_uc010mji.2_Missense_Mutation_p.A365V	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	436					detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TATCACTGACGCATCAAGAGA	0.453													A	32487537	G	A	32487537	3	1	131	1	0	0	0	0	1	0	0	0	4375	1087	38	1	1510	1	DDX58	9	32487537	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	5602700	32487537	108725894	982	77157											
TOPORS	10210	broad.mit.edu	37	chr9	32541935	32541935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatctctacacttaggctcCgggtcttcctttttctcctt	5	14	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:32541935C>T	uc003zrb.2	-	3	2755	c.2588G>A	c.(2587-2589)CGG>CAG	p.R863Q	TOPORS_uc003zrc.2_Missense_Mutation_p.R796Q	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	863	Lys-rich.|Interaction with UBE2I.|Interaction with TOP1.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ACTTAGGCTCCGGGTCTTCCT	0.313													T	32541935	C	T	32541935	3	4	131	1	0	0	0	0	1	0	0	0	16367	652	23	1	553	1	TOPORS	9	32541935	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	54398	32541935	108671496	983	77158											
TAF1L	138474	broad.mit.edu	37	chr9	32633025	32633025	+	Frame_Shift_Del	DEL	T	T	-													tctgaatgggaaggaaaggcTttttttatatcttccattcg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:32633024_32633024CT>C	uc003zrg.1	-	0	2644	c.2554_2554AG>G	c.(2554-2556)gccfs	p.A852fs	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	852					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.A852fs*14(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAAGGAAAGGCTTTTTTTATA	0.443													-	32633025	T	-	32633025	7	5	131	1	0	1	0	1	0	0	0	0	15520	1606	56	0	2931	0	TAF1L	9	32633025	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	91090	32633025	108580406	984	77159											
C9orf25	203259	broad.mit.edu	37	chr9	34401682	34401684	+	In_Frame_Del	DEL	GGA	GGA	-													acctcagcagaggagtagccGgaggaggagtatctagacat							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:34401682_34401684delGGA	uc011lok.1	-	5	686_688	c.379_381delTCC	c.(379-381)TCCdel	p.S127del	C9orf25_uc003zuj.2_In_Frame_Del_p.S110del|C9orf25_uc003zuk.2_In_Frame_Del_p.S99del|C9orf25_uc011lol.1_In_Frame_Del_p.S116del|C9orf25_uc003zul.2_In_Frame_Del_p.S99del	NM_147202	NP_671735	Q8IW50	CI025_HUMAN	hypothetical protein LOC203259	127											0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.0858)		AGGAGTAGCCGGAGGAGGAGTAT	0.552													-	34401684	GGA	-	34401682	7	5	131	1	0	1	0	1	0	0	0	0	2476	1103	39	0	184	0	C9orf25	9	34401682	In_Frame_Del	DEL	GGA	TCGA-BR-A4QL-01A-31D-A25D-08	1768657	34401682	106811749	985	77160											
ARID3C	138715	broad.mit.edu	37	chr9	34623962	34623962	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgacttccaccaggccGcccttggcggtcaccaggcg	12	15	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:34623962G>A	uc011lon.1	-	3	474	c.474C>T	c.(472-474)GGC>GGT	p.G158G		NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT- like)	158	ARID.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CCACCAGGCCGCCCTTGGCGG	0.662													A	34623962	G	A	34623962	2	1	131	1	0	0	0	0	0	0	0	1	918	1074	38	1		1	ARID3C	9	34623962	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	222280	34623962	106589469	986	77161											
ARID3C	138715	broad.mit.edu	37	chr9	34625737	34625738	+	Splice_Site	INS	-	-	C													cccccacatcatgccactcaINScccctcttttgcatgaagct							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:34625737_34625738insC	uc011lon.1	-	2	391	c.391_splice	c.e2+1	p.G131_splice		NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT- like)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CATGCCACTCACCCCTCTTTTG	0.55													C	34625738	-	C	34625737	8	5	131	1	0	1	1	0	0	0	1	0	918	173	6	0	868	0	ARID3C	9	34625737	Splice_Site	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1775	34625737	106587694	987	77162	364	2									
ARID3C	138715	broad.mit.edu	37	chr9	34625738	34625739	+	Splice_Site	INS	-	-	C													ccccacatcatgccactcacINSccctcttttgcatgaagcta							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:34625737_34625738A>AC	uc011lon.2	-	2	391	c.391_splice	c.e2+1	p.G131_splice		NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	Homo sapiens AT rich interactive domain 3C (BRIGHT-like) (ARID3C), mRNA.	131	ARID.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CATGCCACTCACCCCTCTTTTG	0.55													C	34625739	-	C	34625738	8	5	131	1	0	1	1	0	0	0	1	0	918	521	18	0	869	0	ARID3C	9	34625738	Splice_Site	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	34625738	106587693	988	77163	364	2									
PIGO	84720	broad.mit.edu	37	chr9	35092523	35092523	+	Frame_Shift_Del	DEL	C	C	-													aagcagccaagagagcagtaCcccccgccatgcggaccaga							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:35092522_35092522AC>A	uc003zwd.3	-	6	1758	c.1362_1362GT>T	c.(1360-1362)ggtfs	p.G454fs	PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Frame_Shift_Del_p.G17fs	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	454					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGAGAGCAGTACCCCCCGCCA	0.592													-	35092523	C	-	35092523	7	5	131	1	0	1	0	1	0	0	0	0	11894	507	18	0	1928	0	PIGO	9	35092523	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	466785	35092523	106120908	989	77164											
KIAA1539	80256	broad.mit.edu	37	chr9	35107840	35107840	+	Frame_Shift_Del	DEL	G	G	-													gaagcatttgatggggggcaGgggggactccaggcccccga							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:35107840delG	uc003zwl.2	-	3	757	c.432delC	c.(430-432)CCCfs	p.P144fs	KIAA1539_uc003zwm.2_Frame_Shift_Del_p.P144fs|KIAA1539_uc003zwn.2_Intron|KIAA1539_uc003zwo.2_Frame_Shift_Del_p.P144fs|KIAA1539_uc003zwp.1_Frame_Shift_Del_p.P144fs|KIAA1539_uc010mkk.1_Intron	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	144						nucleus				ovary(2)	2	all_epithelial(49;0.217)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATGGGGGGCAGGGGGGACTCC	0.617													-	35107840	G	-	35107840	7	5	131	1	0	1	0	1	0	0	0	0	8242	987	35	0	1212	0	KIAA1539	9	35107840	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	15317	35107840	106105591	990	77165											
SPAG8	26206	broad.mit.edu	37	chr9	35810882	35810882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctctcacatttcacacctCgaagtggccaatagacgttt	6	14	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:35810882C>T	uc003zye.2	-	3	1152	c.1037G>A	c.(1036-1038)CGA>CAA	p.R346Q	SPAG8_uc003zyf.2_Missense_Mutation_p.R263Q|SPAG8_uc003zyg.2_Missense_Mutation_p.R346Q	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	sperm associated antigen 8 isoform 2	346						acrosomal vesicle|membrane				ovary(1)	1	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			TTTCACACCTCGAAGTGGCCA	0.532													T	35810882	C	T	35810882	3	4	131	1	0	0	0	0	1	0	0	0	14984	884	31	1	691	1	SPAG8	9	35810882	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	703042	35810882	105402549	991	77166											
SPAG8	26206	broad.mit.edu	37	chr9	35811334	35811334	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggttgtttctggggctcccAggggcagtgctgactccagg	16	10	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:35811334A>G	uc003zye.2	-	2	824	c.709T>C	c.(709-711)TGG>CGG	p.W237R	SPAG8_uc003zyf.2_Missense_Mutation_p.W154R|SPAG8_uc003zyg.2_Missense_Mutation_p.W237R	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	sperm associated antigen 8 isoform 2	237						acrosomal vesicle|membrane				ovary(1)	1	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			TGGGGCTCCCAGGGGCAGTGC	0.547													G	35811334	A	G	35811334	3	3	131	1	0	0	0	0	1	0	0	0	14984	188	7	3	1023	3	SPAG8	9	35811334	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	452	35811334	105402097	992	77167											
FRMPD1	22844	broad.mit.edu	37	chr9	37740863	37740863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgcggctgataagctcactCccccaggccccccgtcaggt	10	18	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:37740863C>T	uc004aag.1	+	15	2382	c.2338C>T	c.(2338-2340)CCC>TCC	p.P780S	FRMPD1_uc004aah.1_Missense_Mutation_p.P780S|FRMPD1_uc011lqm.1_Missense_Mutation_p.P602S|FRMPD1_uc011lqn.1_Missense_Mutation_p.P649S	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	780						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		TAAGCTCACTCCCCCAGGCCC	0.642													T	37740863	C	T	37740863	3	4	131	1	0	0	0	0	1	0	0	0	6057	855	30	4	2392	4	FRMPD1	9	37740863	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1929529	37740863	103472568	993	77168											
IGFBPL1	347252	broad.mit.edu	37	chr9	38411500	38411500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcccaccatgttggctGcatggcactggtacacaccc	8	17	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:38411500G>A	uc004aba.2	-	4	757	c.734C>T	c.(733-735)GCA>GTA	p.A245V		NM_001007563	NP_001007564	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like	245	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding				0				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		CATGTTGGCTGCATGGCACTG	0.493													A	38411500	G	A	38411500	3	1	131	1	0	0	0	0	1	0	0	0	7585	1319	46	2	106	2	IGFBPL1	9	38411500	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	670637	38411500	102801931	994	77169											
CBWD3	445571	broad.mit.edu	37	chr9	70490121	70490121	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgctgggaccaacacgccGtaccgcagccgcgcacgccc	11	20	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:70490121G>A	uc004aga.3	-	1	57	c.-52C>T	c.(-54--50)TACGG>TATGG		CBWD3_uc004agc.3_RNA|CBWD3_uc004afy.3_RNA|CBWD3_uc011lrm.1_Translation_Start_Site|CBWD3_uc011lrn.1_RNA|CBWD3_uc004agb.3_Translation_Start_Site|CBWD3_uc010moe.1_RNA|CBWD3_uc004agd.1_Intron|CBWD3_uc004age.2_Translation_Start_Site	NM_201453	NP_958861	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3								ATP binding				0				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		CCAACACGCCGTACCGCAGCC	0.662													A	70490121	G	A	70490121	1	1	131	1	0	0	0	0	0	0	0	0	2714	1160	40	1		1	CBWD3	9	70490121	Translation_Start_Site	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	32078621	70490121	70723310	995	77170											
PGM5	5239	broad.mit.edu	37	chr9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattattggacagaatggcAtcttgtcgacacctgcggtc	11	9	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478													G	70993145	A	G	70993145	3	3	131	1	0	0	0	0	1	0	0	0	11801	217	8	3	298	3	PGM5	9	70993145	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	503024	70993145	70220286	996	77171											
PRKACG	5568	broad.mit.edu	37	chr9	71628114	71628114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgatccagctggttgtggCgaaccacttgtggttcttga	14	9	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:71628114C>T	uc004agy.2	-	1	926	c.895G>A	c.(895-897)GCC>ACC	p.A299T		NM_002732	NP_002723	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic,	299	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			ovary(1)|pancreas(1)|skin(1)	3						CTGGTTGTGGCGAACCACTTG	0.567													T	71628114	C	T	71628114	3	4	131	1	0	0	0	0	1	0	0	0	12499	768	27	1	164	1	PRKACG	9	71628114	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	634969	71628114	69585317	997	77172											
ZFAND5	7763	broad.mit.edu	37	chr9	74975132	74975132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggactgttggaaccactagCtgttcctatttaaaaaaagg	9	7	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:74975132C>T	uc004aiv.2	-	3	435	c.157G>A	c.(157-159)GCT>ACT	p.A53T	ZFAND5_uc010mox.1_5'UTR|ZFAND5_uc010moy.1_Missense_Mutation_p.A53T|ZFAND5_uc004aix.2_Missense_Mutation_p.A53T|ZFAND5_uc004aiw.2_Missense_Mutation_p.A53T|ZFAND5_uc004aiy.2_Missense_Mutation_p.A53T	NM_006007	NP_005998	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	53							DNA binding|zinc ion binding				0						GAACCACTAGCTGTTCCTATT	0.378													T	74975132	C	T	74975132	3	4	131	1	0	0	0	0	1	0	0	0	17627	797	28	2	500	2	ZFAND5	9	74975132	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3347018	74975132	66238299	998	77173											
TRPM6	140803	broad.mit.edu	37	chr9	77377518	77377518	+	Frame_Shift_Del	DEL	A	A	-													aggcaagacagtttctgctgAaaaaggaactcgctttagat							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:77377518delA	uc004ajl.1	-	26	4307	c.4069delT	c.(4069-4071)TCAfs	p.S1357fs	TRPM6_uc004ajk.1_Frame_Shift_Del_p.S1352fs|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Frame_Shift_Del_p.S313fs	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1357	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						GTTTCTGCTGAAAAAGGAACT	0.488													-	77377518	A	-	77377518	7	5	131	1	0	1	0	1	0	0	0	0	16587	246	9	0	2055	0	TRPM6	9	77377518	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	2402386	77377518	63835913	999	77174											
PRUNE2	158471	broad.mit.edu	37	chr9	79328535	79328535	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aatctgtcgtctcggctgctGctcctctgacagatagctgg	11	12	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:79328535G>C	uc010mpk.2	-	7	983	c.859C>G	c.(859-861)CAG>GAG	p.Q287E		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	287					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						CTCGGCTGCTGCTCCTCTGAC	0.483													C	79328535	G	C	79328535	3	2	131	1	0	0	0	0	1	0	0	0	12641	1328	46	5	8459	5	PRUNE2	9	79328535	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1951017	79328535	61884896	1000	77175											
VPS13A	23230	broad.mit.edu	37	chr9	79985472	79985472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttagagaaggcatcactcGtggaggaaaaggcttagttt	12	5	1	1	rs138767500		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:79985472G>A	uc004akr.2	+	65	9145	c.8885G>A	c.(8884-8886)CGT>CAT	p.R2962H	VPS13A_uc004akp.3_Missense_Mutation_p.R2962H|VPS13A_uc004akq.3_Missense_Mutation_p.R2962H|VPS13A_uc004aks.2_Missense_Mutation_p.R2923H	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2962					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						GGCATCACTCGTGGAGGAAAA	0.403													A	79985472	G	A	79985472	3	1	131	1	0	0	0	0	1	0	0	0	17186	1145	40	1	9143	1	VPS13A	9	79985472	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	656937	79985472	61227959	1001	77176											
TLE4	7091	broad.mit.edu	37	chr9	82323523	82323523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcctcaagcctaaggaCcccaatggcagtaccttgtc	9	14	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:82323523C>T	uc004ald.2	+	14	2009	c.1160C>T	c.(1159-1161)ACC>ATC	p.T387I	TLE4_uc004alc.2_Missense_Mutation_p.T362I|TLE4_uc010mpr.2_Missense_Mutation_p.T241I|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Missense_Mutation_p.T330I|TLE4_uc010mps.2_Missense_Mutation_p.T286I|TLE4_uc004alf.2_Missense_Mutation_p.T301I	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						AGCCTAAGGACCCCAATGGCA	0.483													T	82323523	C	T	82323523	3	4	131	1	0	0	0	0	1	0	0	0	15938	507	18	4	1135	4	TLE4	9	82323523	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2338051	82323523	58889908	1002	77177											
HNRNPK	3190	broad.mit.edu	37	chr9	86585140	86585140	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgtaatggtaatgatcCgatcttcggatccttctaaa	7	9	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:86585140C>A	uc004ang.3	-	16	1522	c.1298G>T	c.(1297-1299)CGG>CTG	p.R433L	HNRNPK_uc011lsw.1_Missense_Mutation_p.R193L|HNRNPK_uc004and.3_Missense_Mutation_p.R193L|HNRNPK_uc004ank.3_Missense_Mutation_p.R432L|HNRNPK_uc004anf.3_Missense_Mutation_p.R433L|HNRNPK_uc004anh.3_Missense_Mutation_p.R409L|HNRNPK_uc011lsx.1_Missense_Mutation_p.R409L|HNRNPK_uc004ani.3_Missense_Mutation_p.R432L|HNRNPK_uc004anj.3_Missense_Mutation_p.R432L|HNRNPK_uc004ann.3_Missense_Mutation_p.R408L|HNRNPK_uc004anl.3_Missense_Mutation_p.R433L|HNRNPK_uc004anm.3_Missense_Mutation_p.R433L|uc004ano.1_5'Flank|MIR7-1_hsa-mir-7-1|MI0000263_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	433	KH 3.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			skin(1)	1						GGTAATGATCCGATCTTCGGA	0.413													A	86585140	C	A	86585140	3	1	131	1	0	0	0	0	1	0	0	0	7269	652	23	5	139	5	HNRNPK	9	86585140	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4261617	86585140	54628291	1003	77178											
NTRK2	4915	broad.mit.edu	37	chr9	87342787	87342787	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccactcacatgaacaatgggGactacactctaatagccaag	7	12	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:87342787G>T	uc004aoa.1	+	11	2010	c.1072G>T	c.(1072-1074)GAC>TAC	p.D358Y	NTRK2_uc004anv.1_Missense_Mutation_p.D345Y|NTRK2_uc004any.1_Missense_Mutation_p.D358Y|NTRK2_uc004anz.1_Missense_Mutation_p.D358Y|NTRK2_uc011lsz.1_Missense_Mutation_p.D358Y|NTRK2_uc011lta.1_Missense_Mutation_p.D358Y|NTRK2_uc004aob.1_Missense_Mutation_p.D358Y|NTRK2_uc011ltb.1_Missense_Mutation_p.D202Y	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	358	Extracellular (Potential).|Ig-like C2-type 2.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						GAACAATGGGGACTACACTCT	0.453										TSP Lung(25;0.17)			T	87342787	G	T	87342787	3	4	131	1	0	0	0	0	1	0	0	0	10707	1174	41	5	1102	5	NTRK2	9	87342787	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	757647	87342787	53870644	1004	77179											
SHC3	53358	broad.mit.edu	37	chr9	91652963	91652963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggccattgtgcatgcccGtgaggacaaaggagcccggg	15	12	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:91652963G>A	uc004aqg.2	-	11	1908	c.1601C>T	c.(1600-1602)ACG>ATG	p.T534M		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	534	SH2.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4						GTGCATGCCCGTGAGGACAAA	0.642													A	91652963	G	A	91652963	3	1	131	1	0	0	0	0	1	0	0	0	14272	1145	40	1	191	1	SHC3	9	91652963	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	4310176	91652963	49560468	1005	77180											
SEMA4D	10507	broad.mit.edu	37	chr9	92011709	92011709	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacgtaaagggaagtggcGctgagtggctgcagcacccg	15	11	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:92011709G>A	uc004aqo.1	-	8	929	c.357C>T	c.(355-357)AGC>AGT	p.S119S	SEMA4D_uc011ltm.1_Silent_p.S119S|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Silent_p.S117S	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	119	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						GGGAAGTGGCGCTGAGTGGCT	0.597													A	92011709	G	A	92011709	2	1	131	1	0	0	0	0	0	0	0	1	14034	1078	38	1		1	SEMA4D	9	92011709	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	358746	92011709	49201722	1006	77181											
SYK	6850	broad.mit.edu	37	chr9	93640023	93640023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgctggttatggagatggCagaacttggtcccctcaata	12	8	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:93640023C>T	uc004aqz.2	+	10	1557	c.1352C>T	c.(1351-1353)GCA>GTA	p.A451V	SYK_uc004ara.2_Missense_Mutation_p.A428V|SYK_uc004arb.2_Missense_Mutation_p.A428V|SYK_uc004arc.2_Missense_Mutation_p.A451V|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	451	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						ATGGAGATGGCAGAACTTGGT	0.542			T	ETV6|ITK	MDS|peripheral T-cell lymphoma								T	93640023	C	T	93640023	3	4	131	1	0	0	0	0	1	0	0	0	15435	710	25	2	1386	2	SYK	9	93640023	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1628314	93640023	47573408	1007	77182											
NOL8	55035	broad.mit.edu	37	chr9	95077846	95077846	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacacgatttttgatacctAaacctattaaagaatgcagt	6	7	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:95077846A>G	uc004arv.2	-	7	1398	c.1061T>C	c.(1060-1062)TTA>TCA	p.L354S	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.L286S	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	354					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						TTTGATACCTAAACCTATTAA	0.353													G	95077846	A	G	95077846	3	3	131	1	0	0	0	0	1	0	0	0	10527	372	13	3	2486	3	NOL8	9	95077846	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1437823	95077846	46135585	1008	77183											
FGD3	89846	broad.mit.edu	37	chr9	95738954	95738954	+	Frame_Shift_Del	DEL	C	C	-													ggaacctgactctgagaacaCcccccagaaggctgacaagg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:95738954delC	uc004asw.2	+	3	1044	c.416delC	c.(415-417)ACCfs	p.T139fs	FGD3_uc004asx.2_Frame_Shift_Del_p.T139fs|FGD3_uc004asz.2_Frame_Shift_Del_p.T139fs	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	139					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						TCTGAGAACACCCCCCAGAAG	0.662													-	95738954	C	-	95738954	7	5	131	1	0	1	0	1	0	0	0	0	5834	507	18	0	418	0	FGD3	9	95738954	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	661108	95738954	45474477	1009	77184											
WNK2	65268	broad.mit.edu	37	chr9	96055347	96055347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggcatgaaggtccccaCgatcagcgtgacctccttcc	12	14	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:96055347C>T	uc004ati.1	+	23	5711	c.5711C>T	c.(5710-5712)ACG>ATG	p.T1904M	WNK2_uc011lud.1_Missense_Mutation_p.T1867M|WNK2_uc004atj.2_Missense_Mutation_p.T1867M|WNK2_uc004atk.2_Missense_Mutation_p.T1504M|WNK2_uc004atl.1_Missense_Mutation_p.T461M	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1904					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						AAGGTCCCCACGATCAGCGTG	0.612													T	96055347	C	T	96055347	3	4	131	1	0	0	0	0	1	0	0	0	17375	536	19	1	5686	1	WNK2	9	96055347	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	316393	96055347	45158084	1010	77185											
FAM120A	23196	broad.mit.edu	37	chr9	96278450	96278450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtcctcgcccatcaacccGgcccagagcggcagccccaa	10	20	1	1	rs138093719		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:96278450G>A	uc004atw.2	+	7	1342	c.1317G>A	c.(1315-1317)CCG>CCA	p.P439P	FAM120A_uc004atv.2_Silent_p.P439P|FAM120A_uc004atx.2_Silent_p.P221P|FAM120A_uc004aty.2_Silent_p.P220P|FAM120A_uc004atz.2_Silent_p.P88P|FAM120A_uc010mrf.1_RNA	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	439						cytoplasm|plasma membrane	RNA binding				0						CCATCAACCCGGCCCAGAGCG	0.607													A	96278450	G	A	96278450	2	1	131	1	0	0	0	0	0	0	0	1	5415	1103	39	1		1	FAM120A	9	96278450	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	223103	96278450	44934981	1011	77186											
ZNF169	169841	broad.mit.edu	37	chr9	97063255	97063255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctttggtcagaaggtcaCcctcatcagacaccagagga	11	11	4	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:97063255C>T	uc004aum.1	+	5	1520	c.1415C>T	c.(1414-1416)ACC>ATC	p.T472I		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	472	C2H2-type 9.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				CAGAAGGTCACCCTCATCAGA	0.567													T	97063255	C	T	97063255	3	4	131	1	0	0	0	0	1	0	0	0	17739	507	18	4	1429	4	ZNF169	9	97063255	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	784805	97063255	44150176	1012	77187											
OR13C4	138804	broad.mit.edu	37	chr9	107289041	107289041	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgaattgattccaccagaAagccatgatacagaagtcag	9	8	1	5	rs141582176	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:107289041A>G	uc011lvn.1	-	1	450	c.450T>C	c.(448-450)CTT>CTC	p.L150L		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	150	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TTCCACCAGAAAGCCATGATA	0.423													G	107289041	A	G	107289041	2	3	131	1	0	0	0	0	0	0	0	1	10936	1	1	3		3	OR13C4	9	107289041	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	10225786	107289041	33924390	1013	77188											
ABCA1	19	broad.mit.edu	37	chr9	107548581	107548582	+	Frame_Shift_Ins	INS	-	-	T													gaaattatctttattacctaINSttttttagatgctggacact							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:107548581_107548582insT	uc004bcl.2	-	48	6711_6712	c.6398_6399insA	c.(6397-6399)AATfs	p.N2133fs	NIPSNAP3B_uc004bcj.1_Intron	NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	2133	ABC transporter 2.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTTATTACCTATTTTTTAGATG	0.381													T	107548582	-	T	107548581	7	5	131	1	0	1	1	0	0	0	0	0	28	446	16	0	398	0	ABCA1	9	107548581	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	259540	107548581	33664850	1014	77189	365	2									
ABCA1	19	broad.mit.edu	37	chr9	107548582	107548583	+	Frame_Shift_Ins	INS	-	-	T													aaattatctttattacctatINStttttagatgctggacactg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:107548581_107548582A>AT	uc004bcl.3	-	47	6802_6803	c.6398_6399T>AT	c.(6397-6399)aatfs	p.N2133fs	NIPSNAP3B_uc004bcj.1_Intron	NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	2133	ABC transporter 2.				Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTTATTACCTATTTTTTAGATG	0.381													T	107548583	-	T	107548582	7	5	131	1	0	1	1	0	0	0	0	0	28	1493	52	0	399	0	ABCA1	9	107548582	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	107548582	33664849	1015	77190	365	2									
ABCA1	19	broad.mit.edu	37	chr9	107586833	107586833	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacttggtgcaaggaaaatAccagggcctgggaattccgt	14	8	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:107586833A>G	uc004bcl.2	-	18	2882	c.2569T>C	c.(2569-2571)TAT>CAT	p.Y857H		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	857					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAAGGAAAATACCAGGGCCTG	0.502													G	107586833	A	G	107586833	3	3	131	1	0	0	0	0	1	0	0	0	28	391	14	3	4348	3	ABCA1	9	107586833	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	38251	107586833	33626598	1016	77191											
ZNF462	58499	broad.mit.edu	37	chr9	109687846	109687846	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccaccgccgccgccAccaccaccatcacagccaca	4	25	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:109687846A>G	uc004bcz.2	+	3	1942	c.1653A>G	c.(1651-1653)CCA>CCG	p.P551P	ZNF462_uc010mto.2_Silent_p.P399P|ZNF462_uc004bda.2_Silent_p.P399P	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	551					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						cgccgccgccaccaccaccat	0.438													G	109687846	A	G	109687846	2	3	131	1	0	0	0	0	0	0	0	1	17923	146	6	3		3	ZNF462	9	109687846	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	2101013	109687846	31525585	1017	77192											
ZNF462	58499	broad.mit.edu	37	chr9	109689202	109689202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtggtttgccagctacGttcaacaaaaacactcctaa	9	10	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:109689202G>A	uc004bcz.2	+	3	3298	c.3009G>A	c.(3007-3009)ACG>ACA	p.T1003T	ZNF462_uc010mto.2_Silent_p.T851T|ZNF462_uc004bda.2_Silent_p.T851T	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1003					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						TGCCAGCTACGTTCAACAAAA	0.458													A	109689202	G	A	109689202	2	1	131	1	0	0	0	0	0	0	0	1	17923	1132	40	1		1	ZNF462	9	109689202	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1356	109689202	31524229	1018	77193											
ZNF462	58499	broad.mit.edu	37	chr9	109746636	109746636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaaatgccagctctgctaCtatgagaccaagcacacgga	8	12	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:109746636C>T	uc004bcz.2	+	10	7291	c.7002C>T	c.(7000-7002)TAC>TAT	p.Y2334Y	ZNF462_uc010mto.2_Silent_p.Y2243Y|ZNF462_uc004bda.2_Silent_p.Y2242Y|ZNF462_uc011lvz.1_Silent_p.Y291Y|uc004bdc.1_Intron	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	2334	C2H2-type 26.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						AGCTCTGCTACTATGAGACCA	0.507													T	109746636	C	T	109746636	2	4	131	1	0	0	0	0	0	0	0	1	17923	576	20	4		4	ZNF462	9	109746636	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	57434	109746636	31466795	1019	77194											
ACTL7A	10881	broad.mit.edu	37	chr9	111625268	111625268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggaggtgggccatggCgtgtcctacgtggtccccat	17	10	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:111625268C>T	uc004bdj.1	+	1	666	c.666C>T	c.(664-666)GGC>GGT	p.G222G		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	222						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0						TGGGCCATGGCGTGTCCTACG	0.617													T	111625268	C	T	111625268	2	4	131	1	0	0	0	0	0	0	0	1	200	755	27	1		1	ACTL7A	9	111625268	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1878632	111625268	29588163	1020	77195											
EPB41L4B	54566	broad.mit.edu	37	chr9	112017946	112017946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccggaacacaaacgtgtgCtcttgctcacgtcccttaaa	7	13	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:112017946C>T	uc004bdz.1	-	11	1309	c.1014G>A	c.(1012-1014)GAG>GAA	p.E338E	EPB41L4B_uc004bea.2_Silent_p.E338E	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	338	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						CAAACGTGTGCTCTTGCTCAC	0.547													T	112017946	C	T	112017946	2	4	131	1	0	0	0	0	0	0	0	1	5156	796	28	2		2	EPB41L4B	9	112017946	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	392678	112017946	29195485	1021	77196											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112899061	112899061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggccaagtttgagctgCgtgccttccatgaggacaag	14	9	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:112899061C>T	uc004bei.2	+	9	2125	c.1933C>T	c.(1933-1935)CGT>TGT	p.R645C	PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.R413C|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.R413C|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R223C|AKAP2_uc011lwi.1_Missense_Mutation_p.R271C|AKAP2_uc004bem.2_Missense_Mutation_p.R271C|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R231C|AKAP2_uc011lwj.1_Missense_Mutation_p.R182C|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.R182C	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	182							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						GTTTGAGCTGCGTGCCTTCCA	0.517													T	112899061	C	T	112899061	3	4	131	1	0	0	0	0	1	0	0	0	11410	768	27	1	1267	1	PALM2-AKAP2	9	112899061	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	881115	112899061	28314370	1022	77197											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112899946	112899946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcttgactctggtctggacGaattgtcggtgaggtctcag	14	8	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:112899946G>A	uc004bei.2	+	9	3010	c.2818G>A	c.(2818-2820)GAA>AAA	p.E940K	PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.E708K|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.E708K|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.E518K|AKAP2_uc011lwi.1_Missense_Mutation_p.E566K|AKAP2_uc004bem.2_Missense_Mutation_p.E566K|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.E526K|AKAP2_uc011lwj.1_Missense_Mutation_p.E477K|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.E477K	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	477							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						TGGTCTGGACGAATTGTCGGT	0.498													A	112899946	G	A	112899946	3	1	131	1	0	0	0	0	1	0	0	0	11410	1059	37	1	2152	1	PALM2-AKAP2	9	112899946	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	885	112899946	28313485	1023	77198											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112900545	112900545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatggaggagaccaggccCgaaggaagctatttcagcaa	12	9	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:112900545C>T	uc004bei.2	+	9	3609	c.3417C>T	c.(3415-3417)CCC>CCT	p.P1139P	PALM2-AKAP2_uc004bek.3_Silent_p.P907P|PALM2-AKAP2_uc004bej.3_Silent_p.P907P|PALM2-AKAP2_uc004bel.1_Silent_p.P717P|AKAP2_uc011lwi.1_Silent_p.P765P|AKAP2_uc004bem.2_Silent_p.P765P|PALM2-AKAP2_uc010mtw.1_Silent_p.P725P|AKAP2_uc011lwj.1_Silent_p.P676P|PALM2-AKAP2_uc004ben.2_Silent_p.P676P	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	676							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						AGACCAGGCCCGAAGGAAGCT	0.602													T	112900545	C	T	112900545	2	4	131	1	0	0	0	0	0	0	0	1	11410	639	23	1		1	PALM2-AKAP2	9	112900545	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	599	112900545	28312886	1024	77199											
SVEP1	79987	broad.mit.edu	37	chr9	113341715	113341715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggggccccgggcgcggtctCggggaagaggcggaagctga	22	10	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:113341715C>T	uc010mtz.2	-	1	446	c.109G>A	c.(109-111)GAG>AAG	p.E37K	SVEP1_uc010mua.1_Missense_Mutation_p.E37K|SVEP1_uc004beu.2_Missense_Mutation_p.E37K|uc004bew.1_RNA	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	37					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GGCGCGGTCTCGGGGAAGAGG	0.716													T	113341715	C	T	113341715	3	4	131	1	0	0	0	0	1	0	0	0	15417	893	31	1	10798	1	SVEP1	9	113341715	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	441170	113341715	27871716	1025	77200											
C9orf84	158401	broad.mit.edu	37	chr9	114490105	114490105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagtcaagttcaaagtgatCgttattttctttcttttgga	8	6	4	1	rs41316510	by1000genomes	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:114490105C>T	uc004bfr.2	-	11	1585	c.1450G>A	c.(1450-1452)GAT>AAT	p.D484N	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.D445N|C9orf84_uc010mug.2_Missense_Mutation_p.D430N	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	484										ovary(2)	2						TCAAAGTGATCGTTATTTTCT	0.328													T	114490105	C	T	114490105	3	4	131	1	0	0	0	0	1	0	0	0	2500	884	31	1	2948	1	C9orf84	9	114490105	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1148390	114490105	26723326	1026	77201											
SUSD1	64420	broad.mit.edu	37	chr9	114886564	114886564	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttaaagtactttctctccAggtgcctttctctgtgcaaa	7	10	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:114886564A>G	uc004bfu.2	-	6	900	c.859T>C	c.(859-861)TGG>CGG	p.W287R	SUSD1_uc010mui.2_Missense_Mutation_p.W287R|SUSD1_uc010muj.2_Missense_Mutation_p.W287R	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1 precursor	287	Sushi 2.|Extracellular (Potential).					integral to membrane	calcium ion binding				0						CTTTCTCTCCAGGTGCCTTTC	0.527													G	114886564	A	G	114886564	3	3	131	1	0	0	0	0	1	0	0	0	15404	188	7	3	1432	3	SUSD1	9	114886564	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	396459	114886564	26326867	1027	77202											
ALAD	210	broad.mit.edu	37	chr9	116152751	116152751	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcgtccatccatcatgtcCgacggggctaccacctgaca	9	16	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:116152751C>T	uc011lxf.1	-	7	706	c.504G>A	c.(502-504)TCG>TCA	p.S168S	ALAD_uc011lxe.1_Silent_p.S151S|ALAD_uc004bhl.3_Silent_p.S197S	NM_000031	NP_000022	P13716	HEM2_HUMAN	delta-aminolevulinic acid dehydratase	168					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding				0					Aminolevulinic acid(DB00855)	CCATCATGTCCGACGGGGCTA	0.627													T	116152751	C	T	116152751	2	4	131	1	0	0	0	0	0	0	0	1	483	639	23	1		1	ALAD	9	116152751	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1266187	116152751	25060680	1028	77203											
ZNF618	114991	broad.mit.edu	37	chr9	116770651	116770651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaaggggcccctgagaAccgggcaggtaagtccttgg	17	9	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:116770651A>G	uc004bid.2	+	8	767	c.668A>G	c.(667-669)AAC>AGC	p.N223S	ZNF618_uc004bib.1_Missense_Mutation_p.N191S|ZNF618_uc004bic.2_Missense_Mutation_p.N191S|ZNF618_uc011lxi.1_Missense_Mutation_p.N191S|ZNF618_uc011lxj.1_Missense_Mutation_p.N191S	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCCCCTGAGAACCGGGCAGGT	0.637													G	116770651	A	G	116770651	3	3	131	1	0	0	0	0	1	0	0	0	18039	43	2	3	598	3	ZNF618	9	116770651	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	617900	116770651	24442780	1029	77204											
ZNF618	114991	broad.mit.edu	37	chr9	116811914	116811914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacggccaaggccaacgacGcaggcactgtcagcaagctc	11	15	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:116811914G>A	uc004bid.2	+	15	2431	c.2332G>A	c.(2332-2334)GCA>ACA	p.A778T	ZNF618_uc004bic.2_Missense_Mutation_p.A685T|ZNF618_uc011lxi.1_Missense_Mutation_p.A745T|ZNF618_uc011lxj.1_Missense_Mutation_p.A746T|ZNF618_uc010mvb.2_Missense_Mutation_p.A368T	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	778					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGCCAACGACGCAGGCACTGT	0.632													A	116811914	G	A	116811914	3	1	131	1	0	0	0	0	1	0	0	0	18039	1087	38	1	2107	1	ZNF618	9	116811914	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	41263	116811914	24401517	1030	77205											
COL27A1	85301	broad.mit.edu	37	chr9	116930508	116930508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaccctgtgacgcaggtcGctcacaattactgtacccac	7	15	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:116930508G>A	uc011lxl.1	+	3	673	c.673G>A	c.(673-675)GCT>ACT	p.A225T	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.A75T	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	225	Laminin G-like.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						GACGCAGGTCGCTCACAATTA	0.562													A	116930508	G	A	116930508	3	1	131	1	0	0	0	0	1	0	0	0	3685	1087	38	1	683	1	COL27A1	9	116930508	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	118594	116930508	24282923	1031	77206											
COL27A1	85301	broad.mit.edu	37	chr9	117068923	117068923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccaaagagaaccccgccCgggtctgcagggacctcatg	12	15	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:117068923C>T	uc011lxl.1	+	58	5062	c.5062C>T	c.(5062-5064)CGG>TGG	p.R1688W	COL27A1_uc004bii.2_RNA|COL27A1_uc011lxn.1_5'Flank	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	1688	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						GAACCCCGCCCGGGTCTGCAG	0.612											OREG0019417	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	117068923	C	T	117068923	3	4	131	1	0	0	0	0	1	0	0	0	3685	643	23	1	5292	1	COL27A1	9	117068923	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	138415	117068923	24144508	1032	77207											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123199642	123199642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagctgttcctggaaaccctCggccacacagtaatccacat	7	15	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:123199642C>T	uc004bkf.2	-	25	4067	c.3886G>A	c.(3886-3888)GAG>AAG	p.E1296K	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.E305K|CDK5RAP2_uc004bke.2_Missense_Mutation_p.E581K|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.E1296K|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.E561K|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.E561K|CDK5RAP2_uc011lya.1_Missense_Mutation_p.E561K|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.E1066K|CDK5RAP2_uc004bki.2_Missense_Mutation_p.E1063K	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1296					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						TGGAAACCCTCGGCCACACAG	0.493													T	123199642	C	T	123199642	3	4	131	1	0	0	0	0	1	0	0	0	3146	893	31	1	1851	1	CDK5RAP2	9	123199642	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	6130719	123199642	18013789	1033	77208											
RAB14	51552	broad.mit.edu	37	chr9	123954450	123954450	+	Splice_Site	DEL	T	T	-													cctcatgtattgaacttacaTtttttttctgtaaattgatg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:123954449_123954449AT>A	uc004blc.3	-	3	562	c.106_splice	c.e3+1	p.F36_splice		NM_016322	NP_057406	P61106	RAB14_HUMAN	Homo sapiens RAB14, member RAS oncogene family (RAB14), mRNA.	36					Golgi to endosome transport|embryo development|fibroblast growth factor receptor signaling pathway|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	Golgi membrane|Golgi stack|cytosol|early endosome membrane|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTGAACTTACATTTTTTTTCT	0.294													-	123954450	T	-	123954450	8	5	131	1	0	1	0	1	0	0	1	0	12900	1507	52	0	566	0	RAB14	9	123954450	Splice_Site	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	754808	123954450	17258981	1034	77209											
DAB2IP	153090	broad.mit.edu	37	chr9	124461682	124461682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaccgcaaccacagcttcCgccacatcctgccggggttc	10	17	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:124461682C>T	uc004bln.2	+	3	292	c.223C>T	c.(223-225)CGC>TGC	p.R75C		NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	103	PH.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	p.R75*(1)		ovary(1)|central_nervous_system(1)	2						CCACAGCTTCCGCCACATCCT	0.453													T	124461682	C	T	124461682	3	4	131	1	0	0	0	0	1	0	0	0	4219	652	23	1	233	1	DAB2IP	9	124461682	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	507232	124461682	16751749	1035	77210											
OR1N1	138883	broad.mit.edu	37	chr9	125289508	125289508	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattccgaagagggactgcTgttgctctggaggcgctgat	14	8	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:125289508T>G	uc004bmn.1	-	1	65	c.65A>C	c.(64-66)CAG>CCG	p.Q22P		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)|breast(1)|skin(1)	3						GAGGGACTGCTGTTGCTCTGG	0.502													G	125289508	T	G	125289508	3	3	131	1	0	0	0	0	1	0	0	0	10969	1580	55	5	874	5	OR1N1	9	125289508	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	827826	125289508	15923923	1036	77211											
RABGAP1	23637	broad.mit.edu	37	chr9	125861042	125861042	+	Frame_Shift_Del	DEL	A	A	-													acaaggcagaatctgagattAaaaaaaacagttctatcatt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:125861041_125861041TA>T	uc011lzh.2	+	22	2915	c.2781_2781TA>T	c.(2779-2781)attfs	p.I927fs	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Frame_Shift_Del_p.I266fs	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	927					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AATCTGAGATTAAAAAAAACA	0.398													-	125861042	A	-	125861042	7	5	131	1	0	1	0	1	0	0	0	0	12964	363	13	0	2868	0	RABGAP1	9	125861042	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	571534	125861042	15352389	1037	77212											
MAPKAP1	79109	broad.mit.edu	37	chr9	128206809	128206809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttcattgacggtagcagCgtccgattcaaagtagaggt	11	7	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:128206809C>T	uc004bpv.2	-	11	1747	c.1414G>A	c.(1414-1416)GCT>ACT	p.A472T	MAPKAP1_uc011lzt.1_Missense_Mutation_p.A275T|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Missense_Mutation_p.A275T|MAPKAP1_uc011lzv.1_Missense_Mutation_p.A180T|MAPKAP1_uc004bpw.2_Missense_Mutation_p.A280T|MAPKAP1_uc004bpx.2_Missense_Mutation_p.A280T|MAPKAP1_uc004bpy.2_Missense_Mutation_p.A436T|MAPKAP1_uc004bpz.2_Missense_Mutation_p.A425T|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc004bpu.2_RNA	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated	472	Interaction with ATF2.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			ovary(2)|lung(2)	4						ACGGTAGCAGCGTCCGATTCA	0.468													T	128206809	C	T	128206809	3	4	131	1	0	0	0	0	1	0	0	0	9288	768	27	1	162	1	MAPKAP1	9	128206809	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2345767	128206809	13006622	1038	77213											
ZBTB34	403341	broad.mit.edu	37	chr9	129642094	129642094	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcagcgttggagatgttgActctgttaccgtcggtgctg	13	8	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:129642094A>C	uc004bqm.3	+	2	501	c.404A>C	c.(403-405)GAC>GCC	p.D135A		NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GGAGATGTTGACTCTGTTACC	0.493													C	129642094	A	C	129642094	3	2	131	1	0	0	0	0	1	0	0	0	17534	275	10	5	406	5	ZBTB34	9	129642094	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1435285	129642094	11571337	1039	77214											
RALGPS1	9649	broad.mit.edu	37	chr9	129931041	129931041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccagaagtttgtggaagacGacaactacaagtaagtcccc	9	10	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:129931041G>A	uc004bqo.1	+	10	1099	c.832G>A	c.(832-834)GAC>AAC	p.D278N	RALGPS1_uc011mab.1_Missense_Mutation_p.D278N|RALGPS1_uc011mac.1_Missense_Mutation_p.D278N|RALGPS1_uc004bqq.3_Missense_Mutation_p.D278N	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	278	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			ovary(1)	1						TGTGGAAGACGACAACTACAA	0.537													A	129931041	G	A	129931041	3	1	131	1	0	0	0	0	1	0	0	0	13017	1058	37	1	866	1	RALGPS1	9	129931041	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	288947	129931041	11282390	1040	77215											
FAM129B	64855	broad.mit.edu	37	chr9	130271374	130271374	+	Frame_Shift_Del	DEL	G	G	-													atagcagctctgcatcttcaGggggtggtacgccagccggg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:130271374delG	uc004brh.2	-	10	1400	c.1198delC	c.(1198-1200)CTGfs	p.L400fs	FAM129B_uc004bri.2_Frame_Shift_Del_p.L387fs|FAM129B_uc004brj.3_Frame_Shift_Del_p.L400fs	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	400							protein binding				0						TGCATCTTCAGGGGGTGGTAC	0.662													-	130271374	G	-	130271374	7	5	131	1	0	1	0	1	0	0	0	0	5437	991	35	0	1062	0	FAM129B	9	130271374	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	340333	130271374	10942057	1041	77216											
CDK9	1025	broad.mit.edu	37	chr9	130551706	130551706	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccacccacctgacgtccAtgttcgagtacttggcacca	7	16	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:130551706A>G	uc004bse.2	+	7	1126	c.1003A>G	c.(1003-1005)ATG>GTG	p.M335V		NM_001261	NP_001252	P50750	CDK9_HUMAN	cyclin-dependent kinase 9	335					cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1						CCTGACGTCCATGTTCGAGTA	0.627													G	130551706	A	G	130551706	3	3	131	1	0	0	0	0	1	0	0	0	3151	217	8	3	1029	3	CDK9	9	130551706	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	280332	130551706	10661725	1042	77217											
FAM102A	399665	broad.mit.edu	37	chr9	130710647	130710647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctgtgccagcactcacGtcttgaagcagggatctcca	11	13	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:130710647G>A	uc004bsx.1	-	5	540	c.461C>T	c.(460-462)ACG>ATG	p.T154M	FAM102A_uc004bsw.1_Missense_Mutation_p.T12M|FAM102A_uc004bsy.1_5'Flank	NM_001035254	NP_001030331	Q5T9C2	F102A_HUMAN	early estrogen-induced gene 1 protein isoform a	154										ovary(1)	1						CAGCACTCACGTCTTGAAGCA	0.612													A	130710647	G	A	130710647	3	1	131	1	0	0	0	0	1	0	0	0	5382	1159	40	1	721	1	FAM102A	9	130710647	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	158941	130710647	10502784	1043	77218											
CERCAM	51148	broad.mit.edu	37	chr9	131198171	131198171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcctccaaccccagccccGagatgagctctaggtgaggc	11	16	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:131198171G>A	uc004buz.3	+	12	2173	c.1775G>A	c.(1774-1776)CGA>CAA	p.R592Q	CERCAM_uc004buy.1_Missense_Mutation_p.R514Q|CERCAM_uc010mxz.2_Missense_Mutation_p.R514Q	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule 1	592	Prevents secretion from ER (Potential).				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				pancreas(1)	1						CCCCAGCCCCGAGATGAGCTC	0.657													A	131198171	G	A	131198171	3	1	131	1	0	0	0	0	1	0	0	0	3266	1058	37	1	1821	1	CERCAM	9	131198171	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	487524	131198171	10015260	1044	77219											
PKN3	29941	broad.mit.edu	37	chr9	131482673	131482675	+	Splice_Site	DEL	ACC	ACC	-													cgcctctcctttgccctcagAccaccaactggcaagccctg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:131482672_131482674GACC>G	uc004bvw.3	+	22	2851	c.2458_splice	c.e22-1	p.T820_splice	PKN3_uc010myh.3_Splice_Site_p.D805_splice|PKN3_uc022bom.1_Splice_Site	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	820	AGC-kinase C-terminal.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						TTTGCCCTCAGACCACCAACTGG	0.66													-	131482675	ACC	-	131482673	8	5	131	1	0	1	0	1	0	0	1	0	11981	289	10	0	2544	0	PKN3	9	131482673	Splice_Site	DEL	ACC	TCGA-BR-A4QL-01A-31D-A25D-08	284502	131482673	9730758	1045	77220											
NUP188	23511	broad.mit.edu	37	chr9	131731771	131731771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagaactgcatcagtttgCgcaggatgggcttatttgtc	12	7	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:131731771C>T	uc004bws.1	+	10	912	c.890C>T	c.(889-891)GCG>GTG	p.A297V		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	297					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						CATCAGTTTGCGCAGGATGGG	0.428													T	131731771	C	T	131731771	3	4	131	1	0	0	0	0	1	0	0	0	10758	768	27	1	928	1	NUP188	9	131731771	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	249098	131731771	9481660	1046	77221											
SH3GLB2	56904	broad.mit.edu	37	chr9	131771452	131771452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagagcacccgagctttgCgggtcccactggcagggggg	16	12	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:131771452C>T	uc004bwv.2	-	10	1159	c.1013G>A	c.(1012-1014)CGC>CAC	p.R338H	SH3GLB2_uc004bww.2_Missense_Mutation_p.R347H|SH3GLB2_uc004bwx.1_Missense_Mutation_p.R338H|SH3GLB2_uc011mbm.1_Missense_Mutation_p.R347H	NM_020145	NP_064530	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	338	SH3.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding				0						CCGAGCTTTGCGGGTCCCACT	0.697													T	131771452	C	T	131771452	3	4	131	1	0	0	0	0	1	0	0	0	14254	768	27	1	182	1	SH3GLB2	9	131771452	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	39681	131771452	9441979	1047	77222											
METTL11A	28989	broad.mit.edu	37	chr9	132396542	132396542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctccaggacttcaccccGgagccggactcttacgacgt	12	15	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:132396542G>A	uc004byd.1	+	3	566	c.372G>A	c.(370-372)CCG>CCA	p.P124P	METTL11A_uc010myw.1_Intron|METTL11A_uc011mbs.1_Intron	NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN	methyltransferase like 11A	124					chromosome segregation|N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|spindle organization	nucleus	protein binding|protein methyltransferase activity				0						ACTTCACCCCGGAGCCGGACT	0.587													A	132396542	G	A	132396542	2	1	131	1	0	0	0	0	0	0	0	1	9495	1103	39	1		1	METTL11A	9	132396542	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	625090	132396542	8816889	1048	77223											
TOR1B	27348	broad.mit.edu	37	chr9	132571734	132571734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagggccgagatgagggccCgtggttctgccatagatgaa	16	8	1	5	rs147733415		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:132571734C>T	uc004byk.1	+	5	943	c.883C>T	c.(883-885)CGT>TGT	p.R295C		NM_014506	NP_055321	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B) precursor	295					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding				0		Ovarian(14;0.0586)				GATGAGGGCCCGTGGTTCTGC	0.478													T	132571734	C	T	132571734	3	4	131	1	0	0	0	0	1	0	0	0	16371	652	23	1	901	1	TOR1B	9	132571734	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	175192	132571734	8641697	1049	77224											
LAMC3	10319	broad.mit.edu	37	chr9	133914603	133914603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgtgaccgctgtctgccCgggttccactcgctcagtga	12	13	2	2	rs148513856		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:133914603C>T	uc004caa.1	+	6	1349	c.1251C>T	c.(1249-1251)CCC>CCT	p.P417P		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	417	Laminin EGF-like 3.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GCTGTCTGCCCGGGTTCCACT	0.632													T	133914603	C	T	133914603	2	4	131	1	0	0	0	0	0	0	0	1	8616	639	23	1		1	LAMC3	9	133914603	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1342869	133914603	7298828	1050	77225											
POMT1	10585	broad.mit.edu	37	chr9	134379721	134379721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgactcacctacccgcgggCtgtggtgtaagctaaatgac	12	12	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:134379721C>T	uc004cav.2	+	2	318	c.116C>T	c.(115-117)GCT>GTT	p.A39V	POMT1_uc011mci.1_Missense_Mutation_p.A39V|POMT1_uc004cax.2_Missense_Mutation_p.A39V|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Missense_Mutation_p.A39V|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Missense_Mutation_p.A39V	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	39					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TACCCGCGGGCTGTGGTGTAA	0.532											OREG0019563	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	134379721	C	T	134379721	3	4	131	1	0	0	0	0	1	0	0	0	12245	797	28	2	118	2	POMT1	9	134379721	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	465118	134379721	6833710	1051	77226											
GTF3C4	9329	broad.mit.edu	37	chr9	135553865	135553865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaaacggtaatatcgccGtgtggcagtttcagctgccg	12	9	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:135553865G>A	uc010mzv.2	+	2	1117	c.859G>A	c.(859-861)GTG>ATG	p.V287M	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	287					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TAATATCGCCGTGTGGCAGTT	0.502													A	135553865	G	A	135553865	3	1	131	1	0	0	0	0	1	0	0	0	6875	1145	40	1	865	1	GTF3C4	9	135553865	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1174144	135553865	5659566	1052	77227											
TSC1	7248	broad.mit.edu	37	chr9	135786076	135786076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaggagttccttttccaCctgcttagagacaagggcag	11	11	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:135786076C>T	uc004cca.2	-	12	1379	c.1145G>A	c.(1144-1146)GGT>GAT	p.G382D	TSC1_uc004ccb.3_Missense_Mutation_p.G381D|TSC1_uc011mcq.1_Missense_Mutation_p.G331D|TSC1_uc011mcr.1_Intron|TSC1_uc011mcs.1_Missense_Mutation_p.G261D|TSC1_uc004ccc.1_Missense_Mutation_p.G382D	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	382					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TCCTTTTCCACCTGCTTAGAG	0.463			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				T	135786076	C	T	135786076	3	4	131	1	0	0	0	0	1	0	0	0	16602	521	18	4	2397	4	TSC1	9	135786076	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	232211	135786076	5427355	1053	77228											
TSC1	7248	broad.mit.edu	37	chr9	135786444	135786446	+	In_Frame_Del	DEL	AGG	AGG	-													agatcaggtgggacatttccAggagaagttggaggagtggt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:135786443_135786445CAGG>C	uc004cca.2	-	10	1319_1321	c.1085_1087CCTG>G	c.(1084-1089)cctgga>cGga	p.362_363PG>R	TSC1_uc004ccb.3_In_Frame_Del_p.362_363PG>R|TSC1_uc011mcq.1_In_Frame_Del_p.311_312PG>R|TSC1_uc011mcr.2_Intron|TSC1_uc011mcs.1_In_Frame_Del_p.241_242PG>R|TSC1_uc004ccc.1_In_Frame_Del_p.362_363PG>R|TSC1_uc004cce.1_3'UTR	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	362					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GGGACATTTCCAGGAGAAGTTGG	0.443			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				-	135786446	AGG	-	135786444	7	5	131	1	0	1	0	1	0	0	0	0	16602	175	7	0	2460	0	TSC1	9	135786444	In_Frame_Del	DEL	AGG	TCGA-BR-A4QL-01A-31D-A25D-08	368	135786444	5426987	1054	77229											
GTF3C5	9328	broad.mit.edu	37	chr9	135929331	135929332	+	Splice_Site	INS	-	-	A													gttgtggaatgaaacacggtINSaaaaattcctgaaagctttg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:135929331_135929332insA	uc004cci.3	+	6	1325	c.988_splice	c.e6+2	p.G330_splice	GTF3C5_uc010mzz.2_Splice_Site_p.G205_splice|GTF3C5_uc004ccj.3_Splice_Site_p.G330_splice	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5							transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		TGAAACACGGTAAAAATTCCTG	0.391													A	135929332	-	A	135929331	8	5	131	1	0	1	1	0	0	0	1	0	6876	1652	57	0	1012	0	GTF3C5	9	135929331	Splice_Site	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	142887	135929331	5284100	1055	77230	366	2									
GTF3C5	9328	broad.mit.edu	37	chr9	135929332	135929333	+	Splice_Site	INS	-	-	A													ttgtggaatgaaacacggtaINSaaaattcctgaaagctttgc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:135929331_135929332T>TA	uc004ccj.4	+	6	1325	c.988_splice	c.e6+2	p.G330_splice	GTF3C5_uc010mzz.2_Splice_Site_p.G205_splice|GTF3C5_uc004cci.4_Splice_Site_p.G330_splice	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	330						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		TGAAACACGGTAAAAATTCCTG	0.391													A	135929333	-	A	135929332	8	5	131	1	0	1	1	0	0	0	1	0	6876	377	13	0		0	GTF3C5	9	135929332	Splice_Site	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	135929332	5284099	1056	77231	366	2									
SURF6	6838	broad.mit.edu	37	chr9	136199105	136199105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcctcccggtcagcggcGtgaggttccccttcaccctc	10	17	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:136199105G>A	uc004cdb.3	-	5	764	c.686C>T	c.(685-687)ACG>ATG	p.T229M		NM_006753	NP_006744	O75683	SURF6_HUMAN	surfeit 6	229						granular component	DNA binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		GGTCAGCGGCGTGAGGTTCCC	0.667													A	136199105	G	A	136199105	3	1	131	1	0	0	0	0	1	0	0	0	15403	1145	40	1	403	1	SURF6	9	136199105	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	269773	136199105	5014326	1057	77232											
SURF2	6835	broad.mit.edu	37	chr9	136226922	136226922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggacggtgacgggcctcGcccgcgggaagccttctggg	18	12	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:136226922G>A	uc004cdi.2	+	4	482	c.434G>A	c.(433-435)CGC>CAC	p.R145H		NM_017503	NP_059973	Q15527	SURF2_HUMAN	surfeit 2	145							protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		GACGGGCCTCGCCCGCGGGAA	0.627													A	136226922	G	A	136226922	3	1	131	1	0	0	0	0	1	0	0	0	15401	1087	38	1	448	1	SURF2	9	136226922	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	27817	136226922	4986509	1058	77233											
C9orf96	169436	broad.mit.edu	37	chr9	136266947	136266947	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagtgctcttcagagccacCccgaggaggagccacttctt	11	13	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:136266947C>A	uc004cdk.2	+	13	1340	c.1279C>A	c.(1279-1281)CCC>ACC	p.P427T	C9orf96_uc004cdl.2_Intron	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	427							ATP binding|protein kinase activity			stomach(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TCAGAGCCACCCCGAGGAGGA	0.627													A	136266947	C	A	136266947	3	1	131	1	0	0	0	0	1	0	0	0	2508	623	22	5	1329	5	C9orf96	9	136266947	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	40025	136266947	4946484	1059	77234											
SARDH	1757	broad.mit.edu	37	chr9	136536724	136536724	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccgtgcttggcacccgcGgccatcacagcccggtacac	12	17	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:136536724G>A	uc004cep.3	-	18	2393	c.2259C>T	c.(2257-2259)GCC>GCT	p.A753A	SARDH_uc004ceo.2_Silent_p.A753A|SARDH_uc011mdn.1_Silent_p.A753A|SARDH_uc011mdo.1_Silent_p.A585A|SARDH_uc004cen.2_Silent_p.A181A	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	753					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGGCACCCGCGGCCATCACAG	0.662													A	136536724	G	A	136536724	2	1	131	1	0	0	0	0	0	0	0	1	13841	1103	39	1		1	SARDH	9	136536724	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	269777	136536724	4676707	1060	77235											
WDR5	11091	broad.mit.edu	37	chr9	137005059	137005059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcacagccaaccccttcGtcatccgccactcagagcaa	7	17	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:137005059G>A	uc004cey.2	+	2	231	c.60G>A	c.(58-60)TCG>TCA	p.S20S	WDR5_uc004cez.2_Silent_p.S20S	NM_017588	NP_060058	P61964	WDR5_HUMAN	WD repeat domain 5	20					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding				0		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		CAACCCCTTCGTCATCCGCCA	0.622													A	137005059	G	A	137005059	2	1	131	1	0	0	0	0	0	0	0	1	17300	1132	40	1		1	WDR5	9	137005059	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	468335	137005059	4208372	1061	77236											
WDR5	11091	broad.mit.edu	37	chr9	137019598	137019599	+	Frame_Shift_Ins	INS	-	-	C													ttattgcagatgacgacaacINSccccccgtgtcttttgtgaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:137019597_137019598A>AC	uc004cey.3	+	9	812_813	c.641_642A>AC	c.(640-642)aacfs	p.N214fs	WDR5_uc004cez.3_Frame_Shift_Ins_p.N214fs	NM_017588	NP_438172	P61964	WDR5_HUMAN	Homo sapiens WD repeat domain 5 (WDR5), transcript variant 1, mRNA.	214					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		GATGACGACAACCCCCCCGTGT	0.624													C	137019599	-	C	137019598	7	5	131	1	0	1	1	0	0	0	0	0	17300	506	18	0	676	0	WDR5	9	137019598	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	14539	137019598	4193833	1062	77237											
COL5A1	1289	broad.mit.edu	37	chr9	137703422	137703422	+	Frame_Shift_Del	DEL	C	C	-													gtcccagaggctttcctggaCcccctgggccagtggggctg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:137703422delC	uc004cfe.2	+	46	4049	c.3667delC	c.(3667-3669)CCCfs	p.P1223fs		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1223	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTTTCCTGGACCCCCTGGGCC	0.637											OREG0019605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	137703422	C	-	137703422	7	5	131	1	0	1	0	1	0	0	0	0	3696	507	18	0	3849	0	COL5A1	9	137703422	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	683824	137703422	3510009	1063	77238											
COL5A1	1289	broad.mit.edu	37	chr9	137710579	137710579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctgggaagcccggaccGgatggccttcgagggatccc	15	15	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:137710579G>A	uc004cfe.2	+	55	4690	c.4308G>A	c.(4306-4308)CCG>CCA	p.P1436P		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1436	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGCCCGGACCGGATGGCCTTC	0.697													A	137710579	G	A	137710579	2	1	131	1	0	0	0	0	0	0	0	1	3696	1103	39	1		1	COL5A1	9	137710579	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	7157	137710579	3502852	1064	77239											
OLFM1	10439	broad.mit.edu	37	chr9	137998693	137998693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accctctcgcccctgaaggcGataaccgggtgagtgtcccc	11	16	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:137998693G>A	uc010nar.2	+	5	1091	c.775G>A	c.(775-777)GAT>AAT	p.D259N	OLFM1_uc004cfl.3_Missense_Mutation_p.D241N|OLFM1_uc004cfn.3_Missense_Mutation_p.D10N	NM_014279	NP_055094	Q99784	NOE1_HUMAN	olfactomedin related ER localized protein	259	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			ovary(1)|skin(1)	2		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CCCTGAAGGCGATAACCGGGT	0.617													A	137998693	G	A	137998693	3	1	131	1	0	0	0	0	1	0	0	0	10852	1058	37	1	749	1	OLFM1	9	137998693	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	288114	137998693	3214738	1065	77240											
MRPS2	51116	broad.mit.edu	37	chr9	138395646	138395646	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctcctctttggccccacGgtccgcctgccggacctcat	9	20	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:138395646G>A	uc004cfv.3	+	4	632	c.558G>A	c.(556-558)ACG>ACA	p.T186T	MRPS2_uc004cfw.3_Silent_p.T96T|MRPS2_uc004cfx.3_Silent_p.T101T|MRPS2_uc010nat.2_Silent_p.T167T|uc004cfy.2_Intron	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	186					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome				0				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		TTGGCCCCACGGTCCGCCTGC	0.607													A	138395646	G	A	138395646	2	1	131	1	0	0	0	0	0	0	0	1	9831	1103	39	1		1	MRPS2	9	138395646	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	396953	138395646	2817785	1066	77241											
LCN1	3933	broad.mit.edu	37	chr9	138415728	138415728	+	Splice_Site	DEL	G	G	-													gctgctgtctttctgcagacGggggcaagcacgtggcatac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:138415727_138415727CG>C	uc022bpk.1	+	4	353	c.293_splice	c.e4-1	p.D98_splice	LCN1_uc022bpj.1_Splice_Site_p.D98_splice|LCN1_uc004cfz.2_Splice_Site_p.D98_splice|LCN1_uc004cga.2_Splice_Site_p.D98_splice	NM_001252618	NP_001239547	P31025	LCN1_HUMAN	Homo sapiens lipocalin 1 (LCN1), transcript variant 3, mRNA.	98					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		TTTCTGCAGACGGGGGCAAGC	0.602													-	138415728	G	-	138415728	8	5	131	1	0	1	0	1	0	0	1	0	8680	1116	39	0	309	0	LCN1	9	138415728	Splice_Site	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	20082	138415728	2797703	1067	77242											
CAMSAP1	157922	broad.mit.edu	37	chr9	138703221	138703222	+	Frame_Shift_Del	DEL	TG	TG	-													tgccacaggtggttgtggatTgtgagtgcgtccacactgac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:138703221_138703222delTG	uc004cgr.3	-	17	4742_4743	c.4742_4743delCA	c.(4741-4743)ACAfs	p.T1581fs	CAMSAP1_uc004cgq.3_Frame_Shift_Del_p.T1471fs|CAMSAP1_uc010nbg.2_Frame_Shift_Del_p.T1303fs	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1581	CKK.					cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGTTGTGGATTGTGAGTGCGTC	0.52													-	138703222	TG	-	138703221	7	5	131	1	0	1	0	1	0	0	0	0	2611	1799	63	0	69	0	CAMSAP1	9	138703221	Frame_Shift_Del	DEL	TG	TCGA-BR-A4QL-01A-31D-A25D-08	287493	138703221	2510210	1068	77243											
CARD9	64170	broad.mit.edu	37	chr9	139264798	139264798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgcgcagggagaagatgGtgttggcctgctcctggtgg	17	9	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:139264798G>A	uc004chg.3	-	6	1065	c.899C>T	c.(898-900)ACC>ATC	p.T300I	CARD9_uc011mdw.1_Missense_Mutation_p.T300I|CARD9_uc011mdx.1_Missense_Mutation_p.T196I	NM_052813	NP_434700	Q9H257	CARD9_HUMAN	caspase recruitment domain protein 9 isoform 1	300					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			pancreas(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GGAGAAGATGGTGTTGGCCTG	0.697													A	139264798	G	A	139264798	3	1	131	1	0	0	0	0	1	0	0	0	2652	1261	44	4	796	4	CARD9	9	139264798	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	561577	139264798	1948633	1069	77244											
SEC16A	9919	broad.mit.edu	37	chr9	139370620	139370620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catatctgaactggtcactcGgggaggaagggtccaaattg	13	8	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:139370620G>A	uc004chx.2	-	3	1757	c.1448C>T	c.(1447-1449)CCG>CTG	p.P483L	SEC16A_uc004chv.3_Missense_Mutation_p.P110L|SEC16A_uc004chw.2_Missense_Mutation_p.P483L|SEC16A_uc010nbn.2_Missense_Mutation_p.P483L|SEC16A_uc010nbo.1_Missense_Mutation_p.P483L	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	305					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTGGTCACTCGGGGAGGAAGG	0.552													A	139370620	G	A	139370620	3	1	131	1	0	0	0	0	1	0	0	0	13986	1116	39	1	5745	1	SEC16A	9	139370620	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	105822	139370620	1842811	1070	77245											
C9orf86	55684	broad.mit.edu	37	chr9	139733726	139733726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacagctcccacgaggaccGcagcacccccctggccaggc	12	19	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:139733726G>A	uc004cji.1	+	12	1814	c.1546G>A	c.(1546-1548)GCA>ACA	p.A516T	C9orf86_uc004cjj.1_Missense_Mutation_p.A517T|C9orf86_uc004cjk.1_Intron|C9orf86_uc010nbr.1_Intron|C9orf86_uc004cjl.1_Intron|C9orf86_uc010nbs.1_Missense_Mutation_p.A401T|C9orf86_uc004cjn.1_Missense_Mutation_p.A310T	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN	Rab-like GTP-binding protein 1 isoform 1	516					small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		CACGAGGACCGCAGCACCCCC	0.662													A	139733726	G	A	139733726	3	1	131	1	0	0	0	0	1	0	0	0	2502	1087	38	1	1839	1	C9orf86	9	139733726	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	363106	139733726	1479705	1071	77246											
ABCA2	20	broad.mit.edu	37	chr9	139905490	139905490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcccacgacgccctcaacCgccatggccaccagtccgcg	9	20	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:139905490C>T	uc011mem.1	-	38	6136	c.5988G>A	c.(5986-5988)GCG>GCA	p.A1996A	ABCA2_uc011mel.1_Silent_p.A1997A|ABCA2_uc004ckl.1_Silent_p.A1927A|ABCA2_uc004ckm.1_Silent_p.A2027A	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1996	Helical; (Potential).				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGCCCTCAACCGCCATGGCCA	0.537													T	139905490	C	T	139905490	2	4	131	1	0	0	0	0	0	0	0	1	32	639	23	1		1	ABCA2	9	139905490	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	171764	139905490	1307941	1072	77247											
ABCA2	20	broad.mit.edu	37	chr9	139907184	139907184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgcagtcggaagcggtcGgaggtgaagagcaggtactc	18	8	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:139907184G>A	uc011mem.1	-	30	5206	c.5058C>T	c.(5056-5058)TCC>TCT	p.S1686S	ABCA2_uc011mel.1_Silent_p.S1687S|ABCA2_uc004ckl.1_Silent_p.S1617S|ABCA2_uc004ckm.1_Silent_p.S1717S|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1686					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGAAGCGGTCGGAGGTGAAGA	0.662													A	139907184	G	A	139907184	2	1	131	1	0	0	0	0	0	0	0	1	32	1103	39	1		1	ABCA2	9	139907184	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1694	139907184	1306247	1073	77248											
FUT7	2529	broad.mit.edu	37	chr9	139925737	139925737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctccaggcggccataggGcacaaagatgtccgagtcgc	15	12	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:139925737G>A	uc004ckq.2	-	2	1303	c.454C>T	c.(454-456)CCC>TCC	p.P152S	ABCA2_uc011mel.1_5'Flank|ABCA2_uc011mem.1_5'Flank|ABCA2_uc004ckl.1_5'Flank|ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron	NM_004479	NP_004470	Q11130	FUT7_HUMAN	fucosyltransferase 7	152	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity				0	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CGGCCATAGGGCACAAAGATG	0.677													A	139925737	G	A	139925737	3	1	131	1	0	0	0	0	1	0	0	0	6109	1203	42	2	578	2	FUT7	9	139925737	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	18553	139925737	1287694	1074	77249											
C9orf139	401563	broad.mit.edu	37	chr9	139929339	139929339	+	Missense_Mutation	SNP	G	G	T													ctgggcagggtggctgccatGgggcccaatcgtgcgtggga							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:139929339G>T	uc004ckp.1	+	3	1920	c.406G>T	c.(406-408)GGG>TGG	p.G136W	FUT7_uc004ckq.2_5'Flank	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	hypothetical protein LOC401563	136											0	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		TGGCTGCCATGGGGCCCAATC	0.632													T	139929339	G	T	139929339	3	4	131	1	0	0	0	0	1	0	0	0	2459	1348	47	5	412	5	C9orf139	9	139929339	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	3602	139929339	1284092	1075	77250	367	2									
C9orf139	401563	broad.mit.edu	37	chr9	139929343	139929343	+	Missense_Mutation	SNP	C	C	G													gcagggtggctgccatggggCccaatcgtgcgtgggaacct							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:139929343C>G	uc004ckp.1	+	3	1924	c.410C>G	c.(409-411)GCC>GGC	p.A137G	FUT7_uc004ckq.2_5'Flank	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	hypothetical protein LOC401563	137											0	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		TGCCATGGGGCCCAATCGTGC	0.627													G	139929343	C	G	139929343	3	3	131	1	0	0	0	0	1	0	0	0	2459	739	26	5	416	5	C9orf139	9	139929343	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4	139929343	1284088	1076	77251	367	2									
NOXA1	10811	broad.mit.edu	37	chr9	140327956	140327956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactgtcaccgtgcagtgcGccttcacagtggccctgagg	13	13	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:140327956G>A	uc004cmv.2	+	11	1096	c.961G>A	c.(961-963)GCC>ACC	p.A321T	C9orf167_uc011mew.1_Intron|NOXA1_uc004cmu.2_Missense_Mutation_p.A321T|NOXA1_uc010nch.2_Missense_Mutation_p.A265T	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	321	OPR.		Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity				0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CGTGCAGTGCGCCTTCACAGT	0.706													A	140327956	G	A	140327956	3	1	131	1	0	0	0	0	1	0	0	0	10560	1087	38	1	1003	1	NOXA1	9	140327956	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	398613	140327956	885475	1077	77252											
CACNA1B	774	broad.mit.edu	37	chr9	140777198	140777198	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctgcgcttctcctaggaCgacacggagccctatttcat	9	13	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr9:140777198C>T	uc004cog.2	+	3	538	c.393C>T	c.(391-393)GAC>GAT	p.D131D	uc004cof.1_Intron	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	131	I.|Extracellular (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCTCCTAGGACGACACGGAGC	0.592													T	140777198	C	T	140777198	2	4	131	1	0	0	0	0	0	0	0	1	2539	535	19	1		1	CACNA1B	9	140777198	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	449242	140777198	436233	1078	77253											
DIP2C	22982	broad.mit.edu	37	chr10	372999	372999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgaggtgctgacggcccGcgggtgaaggcccaggtcct	17	12	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:372999G>A	uc001ifp.2	-	31	3961	c.3871C>T	c.(3871-3873)CGG>TGG	p.R1291W		NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	1291						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGACGGCCCGCGGGTGAAGG	0.607													A	372999	G	A	372999	3	1	131	1	0	0	0	0	1	0	0	0	4529	1086	38	1	827	1	DIP2C	10	372999	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08		372999	135161748	1079	77254											
LARP4B	23185	broad.mit.edu	37	chr10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-													agataagcagaattccaatgTttttttaagtacttctcggg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:890939delT	uc001ifs.1	-	5	528	c.487delA	c.(487-489)ACAfs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	163	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						AATTCCAATGTTTTTTTAAGT	0.353													-	890939	T	-	890939	7	5	131	1	0	1	0	1	0	0	0	0	8631	1725	60	0	1781	0	LARP4B	10	890939	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	517940	890939	134643808	1080	77255											
C10orf18	54906	broad.mit.edu	37	chr10	5762725	5762725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttttctgctagacttgaaCgcagtgaaaatggtaagaaa	9	6	1	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:5762725C>T	uc001iij.2	+	5	659	c.34C>T	c.(34-36)CGC>TGC	p.R12C		NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	12										ovary(1)|central_nervous_system(1)	2						TAGACTTGAACGCAGTGAAAA	0.274													T	5762725	C	T	5762725	3	4	131	1	0	0	0	0	1	0	0	0	1596	536	19	1	40	1	C10orf18	10	5762725	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4871786	5762725	129772022	1081	77256											
IL15RA	3601	broad.mit.edu	37	chr10	6008149	6008149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtccagtgggcgacattcGtggccttgttcaacacgcac	11	12	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:6008149G>A	uc001iiv.2	-	2	324	c.242C>T	c.(241-243)ACG>ATG	p.T81M	IL15RA_uc010qau.1_Missense_Mutation_p.T81M|IL15RA_uc001iiw.2_Missense_Mutation_p.T45M|IL15RA_uc001iix.2_Missense_Mutation_p.T45M|IL15RA_uc001iiy.2_Intron	NM_002189	NP_002180	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha isoform 1	81	Sushi.|Extracellular (Potential).				cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity				0						GGCGACATTCGTGGCCTTGTT	0.572													A	6008149	G	A	6008149	3	1	131	1	0	0	0	0	1	0	0	0	7632	1145	40	1	585	1	IL15RA	10	6008149	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	245424	6008149	129526598	1082	77257											
PRKCQ	5588	broad.mit.edu	37	chr10	6533724	6533724	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtcgggctcttgtaattGtagactttaaatctgtgtgg	12	5	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:6533724G>A	uc001ijj.1	-	8	786	c.711C>T	c.(709-711)TAC>TAT	p.Y237Y	PRKCQ_uc009xim.1_Silent_p.Y237Y|PRKCQ_uc001iji.1_Silent_p.Y270Y|PRKCQ_uc009xin.1_Silent_p.Y201Y|PRKCQ_uc010qax.1_Silent_p.Y112Y	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	237	Phorbol-ester/DAG-type 2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						TCTTGTAATTGTAGACTTTAA	0.502													A	6533724	G	A	6533724	2	1	131	1	0	0	0	0	0	0	0	1	12515	1372	48	4		4	PRKCQ	10	6533724	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	525575	6533724	129001023	1083	77258											
TAF3	83860	broad.mit.edu	37	chr10	8006080	8006080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctattaagcactaaagggGacacgctagatgttgtgtta	12	6	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:8006080G>A	uc010qbd.1	+	3	607	c.607G>A	c.(607-609)GAC>AAC	p.D203N		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	203					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1						CACTAAAGGGGACACGCTAGA	0.468													A	8006080	G	A	8006080	3	1	131	1	0	0	0	0	1	0	0	0	15522	1174	41	4	617	4	TAF3	10	8006080	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1472356	8006080	127528667	1084	77259											
USP6NL	9712	broad.mit.edu	37	chr10	11504898	11504898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctccggagaagcactgaCggaaagagtagaaccatgag	12	8	1	5			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:11504898C>T	uc001ikt.3	-	15	2350	c.2029G>A	c.(2029-2031)GTC>ATC	p.V677I	USP6NL_uc001iks.1_Missense_Mutation_p.V694I	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	677						intracellular	Rab GTPase activator activity				0						GAAGCACTGACGGAAAGAGTA	0.527													T	11504898	C	T	11504898	3	4	131	1	0	0	0	0	1	0	0	0	17084	536	19	1	461	1	USP6NL	10	11504898	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3498818	11504898	124029849	1085	77260											
ECHDC3	79746	broad.mit.edu	37	chr10	11805348	11805348	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accatgcggatcgctaggaaGatcgcatcgctgagccgtcc	12	13	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:11805348G>A	uc001ikw.3	+	5	937	c.717G>A	c.(715-717)AAG>AAA	p.K239K	ECHDC3_uc009xix.2_Silent_p.K108K	NM_024693	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl Coenzyme A hydratase domain containing 3	239						mitochondrion	catalytic activity				0						TCGCTAGGAAGATCGCATCGC	0.642													A	11805348	G	A	11805348	2	1	131	1	0	0	0	0	0	0	0	1	4895	933	33	4		4	ECHDC3	10	11805348	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	300450	11805348	123729399	1086	77261											
SEPHS1	22929	broad.mit.edu	37	chr10	13364896	13364896	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccgcaggccttgctcacCgcagccatcttggccagcac	9	17	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:13364896C>T	uc001imk.2	-	8	1262	c.903G>A	c.(901-903)GCG>GCA	p.A301A	SEPHS1_uc001imh.2_Silent_p.A225A|SEPHS1_uc010qbs.1_Silent_p.A253A|SEPHS1_uc001imi.2_Silent_p.A299A|SEPHS1_uc001imj.2_Silent_p.A301A|SEPHS1_uc010qbt.1_Silent_p.A234A	NM_012247	NP_036379	P49903	SPS1_HUMAN	selenophosphate synthetase 1	301					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			skin(1)	1						CCTTGCTCACCGCAGCCATCT	0.582													T	13364896	C	T	13364896	2	4	131	1	0	0	0	0	0	0	0	1	14054	639	23	1		1	SEPHS1	10	13364896	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1559548	13364896	122169851	1087	77262											
C1QL3	389941	broad.mit.edu	37	chr10	16562696	16562696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaaggcgatcttgggcacCgtgctgtaggtggcggcgct	17	9	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:16562696C>T	uc001ioj.1	-	1	1309	c.369G>A	c.(367-369)ACG>ACA	p.T123T		NM_001010908	NP_001010908	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	123	C1q.					collagen				ovary(1)	1						TCTTGGGCACCGTGCTGTAGG	0.582													T	16562696	C	T	16562696	2	4	131	1	0	0	0	0	0	0	0	1	1960	639	23	1		1	C1QL3	10	16562696	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3197800	16562696	118972051	1088	77263											
CUBN	8029	broad.mit.edu	37	chr10	17107573	17107574	+	Frame_Shift_Ins	INS	-	-	A													gcgaggtcggagtcagtcacINSaaacaccagcatcaatgagt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:17107573_17107574insA	uc001ioo.2	-	22	3124_3125	c.3072_3073insT	c.(3070-3075)TTTGTGfs	p.F1024fs		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1024_1025	CUB 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGTCAGTCACAAACACCAGCA	0.421													A	17107574	-	A	17107573	7	5	131	1	0	1	1	0	0	0	0	0	4051	478	17	0	7982	0	CUBN	10	17107573	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	544877	17107573	118427174	1089	77264	368	2									
CUBN	8029	broad.mit.edu	37	chr10	17107574	17107575	+	Frame_Shift_Ins	INS	-	-	A													cgaggtcggagtcagtcacaINSaacaccagcatcaatgagtt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:17107573_17107574C>CA	uc001ioo.3	-	21	3124_3125	c.3072_3073G>TG	c.(3070-3075)tttgtgfs	p.F1024fs		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1024	CUB 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGTCAGTCACAAACACCAGCA	0.421													A	17107575	-	A	17107574	7	5	131	1	0	1	1	0	0	0	0	0	4051	127	5	0	7983	0	CUBN	10	17107574	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	17107574	118427173	1090	77265	368	2									
PTPLA	9200	broad.mit.edu	37	chr10	17636370	17636370	+	Frame_Shift_Del	DEL	A	A	-													ccaacaggatataagatgatAaaaaaattatatctggagaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:17636370delA	uc001ipg.2	-	6	653	c.618delT	c.(616-618)TTTfs	p.F206fs		NM_014241	NP_055056	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like, member A	206	Helical; (Potential).				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			central_nervous_system(1)|skin(1)	2						ATAAGATGATAAAAAAATTAT	0.313													-	17636370	A	-	17636370	7	5	131	1	0	1	0	1	0	0	0	0	12774	359	13	0	256	0	PTPLA	10	17636370	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	528796	17636370	117898377	1091	77266											
MRC1	4360	broad.mit.edu	37	chr10	17908612	17908612	+	Frame_Shift_Del	DEL	G	G	-													ccatgagaaccgggattgcaGggggcttatgggatgttttg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:17908612delG	uc001ipk.2	+	12	1928	c.1825delG	c.(1825-1827)GGGfs	p.G609fs		NM_002438	NP_002429	P22897	MRC1_HUMAN	mannose receptor C type 1 precursor	609	C-type lectin 3.|Extracellular (Potential).				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity				0						CGGGATTGCAGGGGGCTTATG	0.512													-	17908612	G	-	17908612	7	5	131	1	0	1	0	1	0	0	0	0	9756	1000	35	0	1871	0	MRC1	10	17908612	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	272242	17908612	117626135	1092	77267											
C10orf140	387640	broad.mit.edu	37	chr10	21804329	21804329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcagttttacctgtaggaCgagggcttctagctgatttc	10	9	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:21804329C>T	uc009xkd.2	-	4	4676	c.2423G>A	c.(2422-2424)CGT>CAT	p.R808H	uc001iqp.1_Intron	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	hypothetical protein LOC387640	727						nucleus	nucleotide binding			ovary(1)	1						ACCTGTAGGACGAGGGCTTCT	0.438													T	21804329	C	T	21804329	3	4	131	1	0	0	0	0	1	0	0	0	1595	536	19	1	307	1	C10orf140	10	21804329	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3895717	21804329	113730418	1093	77268											
MYO3A	53904	broad.mit.edu	37	chr10	26305796	26305796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccgtcggaacacatccGtaggaacaccgttttggatg	12	11	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:26305796G>A	uc001isn.2	+	7	916	c.556G>A	c.(556-558)GTA>ATA	p.V186I	MYO3A_uc009xko.1_Missense_Mutation_p.V186I|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.V186I|MYO3A_uc001ism.2_Missense_Mutation_p.V186I	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	186	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						GAACACATCCGTAGGAACACC	0.443													A	26305796	G	A	26305796	3	1	131	1	0	0	0	0	1	0	0	0	10076	1145	40	1	574	1	MYO3A	10	26305796	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	4501467	26305796	109228951	1094	77269											
MYO3A	53904	broad.mit.edu	37	chr10	26446278	26446278	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctaaaatggtggtgggcCaacctcattttgtccgttgc	11	9	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:26446278C>T	uc001isn.2	+	26	3193	c.2833C>T	c.(2833-2835)CAA>TAA	p.Q945*	MYO3A_uc009xko.1_Nonsense_Mutation_p.Q945*|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	945	Myosin head-like.				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						GGTGGTGGGCCAACCTCATTT	0.383													T	26446278	C	T	26446278	4	4	131	1	0	0	0	0	0	1	0	0	10076	595	21	4	2927	4	MYO3A	10	26446278	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	140482	26446278	109088469	1095	77270											
GAD2	2572	broad.mit.edu	37	chr10	26570016	26570016	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctctcctggttagagaagaGgtatgtctctcttgactctg	11	9	4	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:26570016G>T	uc001isp.2	+	12	1739	c.1236G>T	c.(1234-1236)GAG>GAT	p.E412D	GAD2_uc001isq.2_Missense_Mutation_p.E412D	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	412					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Glutamic Acid(DB00142)	TTAGAGAAGAGGTATGTCTCT	0.418													T	26570016	G	T	26570016	3	4	131	1	0	0	0	0	1	0	0	0	6180	1014	35	5	1282	5	GAD2	10	26570016	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	123738	26570016	108964731	1096	77271											
PTCHD3	374308	broad.mit.edu	37	chr10	27687763	27687763	+	Frame_Shift_Del	DEL	A	A	-													aaggggccaaaatagtctctAaaaaacaaacttattggatg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:27687763delA	uc001itu.2	-	4	1882	c.1764delT	c.(1762-1764)TTTfs	p.F588fs		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	588					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						AATAGTCTCTAAAAAACAAAC	0.373													-	27687763	A	-	27687763	7	5	131	1	0	1	0	1	0	0	0	0	12734	359	13	0	543	0	PTCHD3	10	27687763	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	1117747	27687763	107846984	1097	77272											
PTCHD3	374308	broad.mit.edu	37	chr10	27702415	27702415	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcgccctgtacctcgcGcacacctgctggtactggat	11	15	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:27702415G>A	uc001itu.2	-	1	883	c.765C>T	c.(763-765)TGC>TGT	p.C255C		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	255					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						TGTACCTCGCGCACACCTGCT	0.622													A	27702415	G	A	27702415	2	1	131	1	0	0	0	0	0	0	0	1	12734	1079	38	1		1	PTCHD3	10	27702415	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	14652	27702415	107832332	1098	77273											
KIAA1462	57608	broad.mit.edu	37	chr10	30315305	30315305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctttcattctcatcaggcGgtcagggtctgctctcctag	9	13	7	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:30315305G>A	uc001iux.2	-	2	3831	c.3772C>T	c.(3772-3774)CGC>TGC	p.R1258C	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.R1120C|KIAA1462_uc009xle.1_Missense_Mutation_p.R1258C	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	1258										ovary(4)	4						CTCATCAGGCGGTCAGGGTCT	0.532													A	30315305	G	A	30315305	3	1	131	1	0	0	0	0	1	0	0	0	8234	1116	39	1	315	1	KIAA1462	10	30315305	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2612890	30315305	105219442	1099	77274											
ZNF438	220929	broad.mit.edu	37	chr10	31137669	31137669	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggttctcaccatgatgaagTttcatgtgtgtgctcaggct	11	9	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:31137669T>C	uc010qdz.1	-	7	2100	c.1665A>G	c.(1663-1665)AAA>AAG	p.K555K	ZNF438_uc001ivn.2_Silent_p.K506K|ZNF438_uc010qdy.1_Silent_p.K545K|ZNF438_uc001ivo.3_Silent_p.K119K|ZNF438_uc009xlg.2_Silent_p.K555K|ZNF438_uc001ivp.3_Silent_p.K545K|ZNF438_uc010qea.1_Silent_p.K555K|ZNF438_uc010qeb.1_Silent_p.K555K|ZNF438_uc010qec.1_Silent_p.K119K	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	555	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				CATGATGAAGTTTCATGTGTG	0.463													C	31137669	T	C	31137669	2	2	131	1	0	0	0	0	0	0	0	1	17907	1722	60	3		3	ZNF438	10	31137669	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	822364	31137669	104397078	1100	77275											
CCDC7	221016	broad.mit.edu	37	chr10	32740786	32740786	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttgcccattccatcgagTaagacaaagaacttactacc	6	12	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:32740786T>C	uc001iwj.2	+	2	786	c.216T>C	c.(214-216)AGT>AGC	p.S72S	CCDC7_uc009xlu.1_RNA|CCDC7_uc001iwk.2_Silent_p.S72S|CCDC7_uc009xlv.2_RNA|CCDC7_uc009xlw.1_RNA|CCDC7_uc009xlx.1_Silent_p.S72S|CCDC7_uc009xly.1_RNA	NM_145023	NP_659460	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	72											0		Breast(68;0.000207)|Prostate(175;0.0107)				TTCCATCGAGTAAGACAAAGA	0.323													C	32740786	T	C	32740786	2	2	131	1	0	0	0	0	0	0	0	1	2842	1635	57	3		3	CCDC7	10	32740786	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1603117	32740786	102793961	1101	77276											
FZD8	8325	broad.mit.edu	37	chr10	35929087	35929087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccccacttcataccggccGccaggaaccatgtgagcgac	10	16	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:35929087G>A	uc001iyz.1	-	1	1276	c.1271C>T	c.(1270-1272)GCG>GTG	p.A424V		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	424	Cytoplasmic (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0						CATACCGGCCGCCAGGAACCA	0.632													A	35929087	G	A	35929087	3	1	131	1	0	0	0	0	1	0	0	0	6136	1087	38	1	817	1	FZD8	10	35929087	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	3188301	35929087	99605660	1102	77277											
PPYR1	5540	broad.mit.edu	37	chr10	47087071	47087071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgcctcctctgccagccGctgaccgccgtctacaccat	8	18	2	1	rs143217098		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:47087071G>A	uc001jee.2	+	3	707	c.288G>A	c.(286-288)CCG>CCA	p.P96P	ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.P96P	NM_005972	NP_005963	P50391	NPY4R_HUMAN	pancreatic polypeptide receptor 1	96	Helical; Name=2; (Potential).				blood circulation|digestion|feeding behavior	integral to plasma membrane				ovary(1)|skin(1)	2						TCTGCCAGCCGCTGACCGCCG	0.562													A	47087071	G	A	47087071	2	1	131	1	0	0	0	0	0	0	0	1	12416	1074	38	1		1	PPYR1	10	47087071	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	11157984	47087071	88447676	1103	77278											
PRKG1	5592	broad.mit.edu	37	chr10	53667314	53667314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagatcctcagcaagcttgCtgatgtccttgaagaggtaa	11	8	1	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:53667314C>T	uc001jjm.2	+	5	895	c.701C>T	c.(700-702)GCT>GTT	p.A234V	PRKG1_uc001jjn.2_Missense_Mutation_p.A249V|PRKG1_uc001jjo.2_Missense_Mutation_p.A249V	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	234	cGMP 2.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AGCAAGCTTGCTGATGTCCTT	0.433													T	53667314	C	T	53667314	3	4	131	1	0	0	0	0	1	0	0	0	12522	797	28	2	1034	2	PRKG1	10	53667314	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	6580243	53667314	81867433	1104	77279											
PCDH15	65217	broad.mit.edu	37	chr10	56077099	56077099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcacgagtgtttggcacaaGgacacaaggaagaaacattg	11	7	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:56077099G>A	uc001jju.1	-	8	1203	c.808C>T	c.(808-810)CTT>TTT	p.L270F	PCDH15_uc010qhq.1_Missense_Mutation_p.L275F|PCDH15_uc010qhr.1_Missense_Mutation_p.L270F|PCDH15_uc010qhs.1_Missense_Mutation_p.L275F|PCDH15_uc010qht.1_Missense_Mutation_p.L270F|PCDH15_uc010qhu.1_Missense_Mutation_p.L270F|PCDH15_uc001jjv.1_Missense_Mutation_p.L248F|PCDH15_uc010qhv.1_Missense_Mutation_p.L270F|PCDH15_uc010qhw.1_Missense_Mutation_p.L233F|PCDH15_uc010qhx.1_Missense_Mutation_p.L270F|PCDH15_uc010qhy.1_Missense_Mutation_p.L275F|PCDH15_uc010qhz.1_Missense_Mutation_p.L270F|PCDH15_uc010qia.1_Missense_Mutation_p.L248F|PCDH15_uc010qib.1_Missense_Mutation_p.L248F|PCDH15_uc001jjw.2_Missense_Mutation_p.L270F	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	270	Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTGGCACAAGGACACAAGGA	0.463										HNSCC(58;0.16)			A	56077099	G	A	56077099	3	1	131	1	0	0	0	0	1	0	0	0	11511	1000	35	4	6807	4	PCDH15	10	56077099	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2409785	56077099	79457648	1105	77280											
RTKN2	219790	broad.mit.edu	37	chr10	63959571	63959571	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaaaggtggtttccgtggTgacataatctcaattttcat	8	7	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:63959571T>C	uc001jlw.2	-	11	1333	c.1236A>G	c.(1234-1236)TCA>TCG	p.S412S	RTKN2_uc009xpf.1_Silent_p.S214S|RTKN2_uc001jlv.2_Silent_p.S66S	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	rhotekin 2	412					signal transduction	intracellular					0	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTTTCCGTGGTGACATAATCT	0.373													C	63959571	T	C	63959571	2	2	131	1	0	0	0	0	0	0	0	1	13723	1683	59	3		3	RTKN2	10	63959571	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	7882472	63959571	71575176	1106	77281											
JMJD1C	221037	broad.mit.edu	37	chr10	64967560	64967560	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccgctgcttttctccacaTgccattcagttttctctttg	5	13	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:64967560T>C	uc001jmn.2	-	10	4169	c.3869A>G	c.(3868-3870)CAT>CGT	p.H1290R	JMJD1C_uc001jml.2_Missense_Mutation_p.H1071R|JMJD1C_uc001jmm.2_Missense_Mutation_p.H1002R|JMJD1C_uc010qiq.1_Missense_Mutation_p.H1108R|JMJD1C_uc009xpi.2_Missense_Mutation_p.H1108R|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.H327R	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1290					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTCTCCACATGCCATTCAGT	0.423													C	64967560	T	C	64967560	3	2	131	1	0	0	0	0	1	0	0	0	7950	1464	51	3	3821	3	JMJD1C	10	64967560	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1007989	64967560	70567187	1107	77282											
H2AFY2	55506	broad.mit.edu	37	chr10	71835526	71835526	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctgaagaaagggacgttcAagtaccggatcagcgtgggc	14	8	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:71835526A>G	uc001jqm.2	+	2	571	c.112A>G	c.(112-114)AAG>GAG	p.K38E	H2AFY2_uc001jqn.2_RNA	NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	38	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			skin(1)	1						AGGGACGTTCAAGTACCGGAT	0.562													G	71835526	A	G	71835526	3	3	131	1	0	0	0	0	1	0	0	0	6930	131	5	3	114	3	H2AFY2	10	71835526	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	6867966	71835526	63699221	1108	77283											
ADAMTS14	140766	broad.mit.edu	37	chr10	72495033	72495033	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgccgctttgactttggCagtggctaccagacctgctt	11	12	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:72495033C>T	uc001jrh.2	+	9	1461	c.1461C>T	c.(1459-1461)GGC>GGT	p.G487G	ADAMTS14_uc001jrg.2_Silent_p.G490G|ADAMTS14_uc001jri.1_Silent_p.G10G	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	487	Disintegrin.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						TTGACTTTGGCAGTGGCTACC	0.597													T	72495033	C	T	72495033	2	4	131	1	0	0	0	0	0	0	0	1	259	697	25	2		2	ADAMTS14	10	72495033	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	659507	72495033	63039714	1109	77284											
ADAMTS14	140766	broad.mit.edu	37	chr10	72520485	72520485	+	Frame_Shift_Del	DEL	C	C	-													ctggagcatctcccctaccaCccccggggggctgccttggg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:72520484_72520484AC>A	uc001jrg.3	+	21	3556	c.3556_3556AC>A	c.(3556-3558)accfs	p.T1186fs	ADAMTS14_uc001jrh.3_Frame_Shift_Del_p.T1183fs	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	1183	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTCCCCTACCACCCCCGGGGG	0.632													-	72520485	C	-	72520485	7	5	131	1	0	1	0	1	0	0	0	0	259	507	18	0	3643	0	ADAMTS14	10	72520485	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	25452	72520485	63014262	1110	77285											
UNC5B	219699	broad.mit.edu	37	chr10	73058904	73058904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaccaaagcgagccccaCgggtgtgatcctggacctct	11	15	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:73058904C>T	uc001jro.2	+	17	3153	c.2708C>T	c.(2707-2709)ACG>ATG	p.T903M	UNC5B_uc001jrp.2_Missense_Mutation_p.T892M|UNC5B_uc001jrq.1_5'Flank	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	903	Cytoplasmic (Potential).|Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						GCGAGCCCCACGGGTGTGATC	0.612													T	73058904	C	T	73058904	3	4	131	1	0	0	0	0	1	0	0	0	16989	536	19	1	2774	1	UNC5B	10	73058904	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	538419	73058904	62475843	1111	77286											
PSAP	5660	broad.mit.edu	37	chr10	73594249	73594249	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattctttcagtccaaggacCgggccggctagagctaaaat	10	11	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:73594249C>T	uc001jsm.2	-	2	158	c.54G>A	c.(52-54)CCG>CCA	p.P18P		NM_002778	NP_002769	P07602	SAP_HUMAN	prosaposin isoform a preproprotein	18	Saposin A-type 1.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			ovary(1)	1						GTCCAAGGACCGGGCCGGCTA	0.587													T	73594249	C	T	73594249	2	4	131	1	0	0	0	0	0	0	0	1	12643	639	23	1		1	PSAP	10	73594249	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	535345	73594249	61940498	1112	77287											
PPP3CB	5532	broad.mit.edu	37	chr10	75238307	75238307	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgccaagaaaaaggtatcGtgtattagcaggtgatcctc	10	8	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:75238307G>A	uc001jue.2	-	3	496	c.361C>T	c.(361-363)CGA>TGA	p.R121*	PPP3CB_uc001juf.2_Nonsense_Mutation_p.R121*|PPP3CB_uc001jug.2_Nonsense_Mutation_p.R121*|PPP3CB_uc001jui.2_Nonsense_Mutation_p.R121*|PPP3CB_uc001juh.2_Nonsense_Mutation_p.R35*	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	121	Catalytic.									skin(1)	1	Prostate(51;0.0119)					AAAAGGTATCGTGTATTAGCA	0.343													A	75238307	G	A	75238307	4	1	131	1	0	0	0	0	0	1	0	0	12398	1153	40	1	1264	1	PPP3CB	10	75238307	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1644058	75238307	60296440	1113	77288											
MYST4	23522	broad.mit.edu	37	chr10	76789460	76789460	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctctggaaaacagctaCgcccaaatcagcccagatca	7	15	3	1	rs146568876		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:76789460C>T	uc001jwn.1	+	18	5371	c.4878C>T	c.(4876-4878)TAC>TAT	p.Y1626Y	MYST4_uc001jwo.1_Silent_p.Y1334Y|MYST4_uc001jwp.1_Silent_p.Y1443Y	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1626	Ser-rich.|Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					AAAACAGCTACGCCCAAATCA	0.527			T	CREBBP	AML								T	76789460	C	T	76789460	2	4	131	1	0	0	0	0	0	0	0	1	10105	547	19	1		1	MYST4	10	76789460	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1551153	76789460	58745287	1114	77289											
ZNF503	84858	broad.mit.edu	37	chr10	77158594	77158594	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccggtggcggcgggcacCggcacgggggcgccaggcgt	22	13	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:77158594C>T	uc001jxg.2	-	2	2190	c.1854G>A	c.(1852-1854)CCG>CCA	p.P618P	C10orf41_uc010qlf.1_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	zinc finger protein 503	618					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					CGGCGGGCACCGGCACGGGGG	0.662													T	77158594	C	T	77158594	2	4	131	1	0	0	0	0	0	0	0	1	17948	639	23	1		1	ZNF503	10	77158594	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	369134	77158594	58376153	1115	77290											
KCNMA1	3778	broad.mit.edu	37	chr10	78651292	78651292	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggactcacccctaagtcCgcaaatggcccatcgagcag	10	14	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:78651292C>T	uc001jxn.2	-	26	3510	c.3333G>A	c.(3331-3333)GCG>GCA	p.A1111A	KCNMA1_uc001jxj.2_Silent_p.A1057A|KCNMA1_uc001jxk.1_Silent_p.A729A|KCNMA1_uc009xrt.1_Silent_p.A902A|KCNMA1_uc001jxl.1_Silent_p.A736A|KCNMA1_uc001jxo.2_Silent_p.A1094A|KCNMA1_uc001jxm.2_Silent_p.A1053A|KCNMA1_uc001jxq.2_Silent_p.A1083A|uc001jxp.2_Intron	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1111	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CCCCTAAGTCCGCAAATGGCC	0.567													T	78651292	C	T	78651292	2	4	131	1	0	0	0	0	0	0	0	1	8073	639	23	1		1	KCNMA1	10	78651292	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1492698	78651292	56883455	1116	77291											
DLG5	9231	broad.mit.edu	37	chr10	79553804	79553804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcctgctcaagcttctgcGccgcctcaaactgctctttg	7	16	4	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:79553804G>A	uc001jzk.2	-	31	5688	c.5618C>T	c.(5617-5619)GCG>GTG	p.A1873V	DLG5_uc001jzi.2_Missense_Mutation_p.A628V|DLG5_uc001jzj.2_Missense_Mutation_p.A1288V	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1873	Guanylate kinase-like.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AAGCTTCTGCGCCGCCTCAAA	0.592													A	79553804	G	A	79553804	3	1	131	1	0	0	0	0	1	0	0	0	4558	1087	38	1	149	1	DLG5	10	79553804	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	902512	79553804	55980943	1117	77292											
ZMIZ1	57178	broad.mit.edu	37	chr10	81053363	81053363	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agacctacccgggcccccggCcccagtcccttcctattcag	8	20	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:81053363C>G	uc001kaf.2	+	12	1755	c.1183C>G	c.(1183-1185)CCC>GCC	p.P395A	ZMIZ1_uc001kag.2_Missense_Mutation_p.P271A|ZMIZ1_uc001kah.1_Missense_Mutation_p.P277A	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	395	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GGGCCCCCGGCCCCAGTCCCT	0.667													G	81053363	C	G	81053363	3	3	131	1	0	0	0	0	1	0	0	0	17693	739	26	5	1213	5	ZMIZ1	10	81053363	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1499559	81053363	54481384	1118	77293											
ZMIZ1	57178	broad.mit.edu	37	chr10	81067262	81067262	+	Frame_Shift_Del	DEL	C	C	-													gggcccccccagctctcccaCcccccggacatgcccaacaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:81067261_81067261AC>A	uc001kaf.2	+	22	3340	c.2768_2768AC>A	c.(2767-2769)cacfs	p.H923fs	ZMIZ1_uc001kag.2_Frame_Shift_Del_p.H799fs|ZMIZ1_uc010qlq.1_Frame_Shift_Del_p.H76fs	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	923	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAGCTCTCCCACCCCCCGGAC	0.607													-	81067262	C	-	81067262	7	5	131	1	0	1	0	1	0	0	0	0	17693	506	18	0	2843	0	ZMIZ1	10	81067262	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	13899	81067262	54467485	1119	77294											
SFTPD	6441	broad.mit.edu	37	chr10	81701716	81701716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccactgctcacctgctgCccctgtgtttccagggactc	8	16	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:81701716C>T	uc001kbh.2	-	5	587	c.544G>A	c.(544-546)GCA>ACA	p.A182T	MBL1P_uc001kbf.2_Intron	NM_003019	NP_003010	P35247	SFTPD_HUMAN	pulmonary surfactant-associated protein D	182	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			skin(1)	1	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TCACCTGCTGCCCCTGTGTTT	0.647													T	81701716	C	T	81701716	3	4	131	1	0	0	0	0	1	0	0	0	14193	739	26	2	599	2	SFTPD	10	81701716	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	634454	81701716	53833031	1120	77295											
FAM190B	54462	broad.mit.edu	37	chr10	86132007	86132007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtggatgacatttccttgtCgtctttgtcatcttctgata	8	8	4	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:86132007C>T	uc001kdh.1	+	2	1393	c.1199C>T	c.(1198-1200)TCG>TTG	p.S400L	FAM190B_uc001kdg.1_Missense_Mutation_p.S400L|FAM190B_uc010qmd.1_Missense_Mutation_p.S400L	NM_018999	NP_061872	Q9H7U1	F190B_HUMAN	granule cell antiserum positive 14	400										ovary(3)|skin(1)	4						ATTTCCTTGTCGTCTTTGTCA	0.333													T	86132007	C	T	86132007	3	4	131	1	0	0	0	0	1	0	0	0	5522	893	31	1	1201	1	FAM190B	10	86132007	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4430291	86132007	49402740	1121	77296											
CYP26A1	1592	broad.mit.edu	37	chr10	94834693	94834693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgttccgaatcgccatgcGcatcctactgggctgcgaac	10	14	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:94834693G>A	uc001kil.2	+	3	617	c.572G>A	c.(571-573)CGC>CAC	p.R191H	CYP26A1_uc001kik.1_Missense_Mutation_p.R122H|CYP26A1_uc001kim.1_Missense_Mutation_p.R89H	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	191					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				ATCGCCATGCGCATCCTACTG	0.652													A	94834693	G	A	94834693	3	1	131	1	0	0	0	0	1	0	0	0	4155	1087	38	1	582	1	CYP26A1	10	94834693	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	8702686	94834693	40700054	1122	77297											
GPR120	338557	broad.mit.edu	37	chr10	95326941	95326941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcctgggcggcgggcgcGggcagtgctgctggcgctca	21	12	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:95326941G>A	uc010qnt.1	+	1	520	c.464G>A	c.(463-465)CGG>CAG	p.R155Q	GPR120_uc010qnu.1_Missense_Mutation_p.R155Q	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	G protein-coupled receptor 120	155	Cytoplasmic (Potential).				negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding				0		Colorectal(252;0.122)				CGGCGGGCGCGGGCAGTGCTG	0.726													A	95326941	G	A	95326941	3	1	131	1	0	0	0	0	1	0	0	0	6636	1116	39	1	466	1	GPR120	10	95326941	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	492248	95326941	40207806	1123	77298											
SORBS1	10580	broad.mit.edu	37	chr10	97117446	97117446	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggccctgaagagggatGtcaccaccttccaagacact	9	14	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:97117446G>A	uc001kkp.2	-	21	2115	c.2070C>T	c.(2068-2070)GAC>GAT	p.D690D	SORBS1_uc001kkk.2_Silent_p.D184D|SORBS1_uc001kkl.2_Silent_p.D292D|SORBS1_uc001kkn.2_Silent_p.D455D|SORBS1_uc001kkm.2_Silent_p.D490D|SORBS1_uc001kko.2_Silent_p.D712D|SORBS1_uc001kkq.2_Silent_p.D541D|SORBS1_uc001kkr.2_Silent_p.D396D|SORBS1_uc001kks.2_Silent_p.D396D|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Silent_p.D437D|SORBS1_uc001kkv.2_Silent_p.D528D|SORBS1_uc001kkw.2_Silent_p.D644D|SORBS1_uc010qoe.1_Silent_p.D405D|SORBS1_uc010qof.1_Silent_p.D758D	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	690				D -> V (in Ref. 1; AAD27647 and 3; AAF22175).	focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GAAGAGGGATGTCACCACCTT	0.517													A	97117446	G	A	97117446	2	1	131	1	0	0	0	0	0	0	0	1	14927	1368	48	4		4	SORBS1	10	97117446	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1790505	97117446	38417301	1124	77299											
ALDH18A1	5832	broad.mit.edu	37	chr10	97371130	97371130	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtccccatactcagttcGgagtgacttcacttcggagg	11	12	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:97371130G>A	uc001kkz.2	-	16	2235	c.1993C>T	c.(1993-1995)CGA>TGA	p.R665*	ALDH18A1_uc001kky.2_Nonsense_Mutation_p.R663*|ALDH18A1_uc010qog.1_Nonsense_Mutation_p.R554*|ALDH18A1_uc010qoh.1_Nonsense_Mutation_p.R453*	NM_002860	NP_002851	P54886	P5CS_HUMAN	pyrroline-5-carboxylate synthetase isoform 1	665	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			pancreas(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	TACTCAGTTCGGAGTGACTTC	0.502													A	97371130	G	A	97371130	4	1	131	1	0	0	0	0	0	1	0	0	489	1124	39	1	406	1	ALDH18A1	10	97371130	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	253684	97371130	38163617	1125	77300											
ZNF518A	9849	broad.mit.edu	37	chr10	97920218	97920218	+	Frame_Shift_Del	DEL	A	A	-													gtacttaaggtttcattgtcAaaaagaactataaatgcttt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:97920218delA	uc001klp.2	+	7	4997	c.4140delA	c.(4138-4140)TCAfs	p.S1380fs	ZNF518A_uc001klo.1_3'UTR|ZNF518A_uc001klq.2_3'UTR|ZNF518A_uc001klr.2_3'UTR	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	1380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TTTCATTGTCAAAAAGAACTA	0.318													-	97920218	A	-	97920218	7	5	131	1	0	1	0	1	0	0	0	0	17959	130	5	0	4141	0	ZNF518A	10	97920218	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	549088	97920218	37614529	1126	77301											
PIK3AP1	118788	broad.mit.edu	37	chr10	98469322	98469322	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatctttagaagaaatccttAccttcggaaatggctttttt	6	7	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:98469322A>G	uc001kmq.2	-	2	558	c.430_splice	c.e2+1	p.D144_splice		NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1							cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		AGAAATCCTTACCTTCGGAAA	0.453													G	98469322	A	G	98469322	5	3	131	1	0	0	0	0	0	0	1	0	11908	405	14	3	2049	3	PIK3AP1	10	98469322	Splice_Site	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	549104	98469322	37065425	1127	77302											
C10orf12	26148	broad.mit.edu	37	chr10	98742785	98742785	+	Frame_Shift_Del	DEL	A	A	-													aatcctagtgcaaaacgttcAaaaaaagaagggcaccctgg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:98742785delA	uc001kmv.2	+	1	1745	c.1638delA	c.(1636-1638)TCAfs	p.S546fs		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	546										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CAAAACGTTCAAAAAAAGAAG	0.443													-	98742785	A	-	98742785	7	5	131	1	0	1	0	1	0	0	0	0	1589	117	5	0	1640	0	C10orf12	10	98742785	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	273463	98742785	36791962	1128	77303											
RRP12	23223	broad.mit.edu	37	chr10	99139503	99139503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggaaatgaggggagaggcGcaggtcacacagggactgga	20	6	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:99139503G>A	uc001knf.2	-	14	1697	c.1558C>T	c.(1558-1560)CGC>TGC	p.R520C	RRP12_uc009xvm.2_Missense_Mutation_p.R238C|RRP12_uc010qou.1_Missense_Mutation_p.R459C|RRP12_uc009xvn.2_Missense_Mutation_p.R420C	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	520						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGGGAGAGGCGCAGGTCACAC	0.607													A	99139503	G	A	99139503	3	1	131	1	0	0	0	0	1	0	0	0	13686	1087	38	1	2419	1	RRP12	10	99139503	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	396718	99139503	36395244	1129	77304											
SFRP5	6425	broad.mit.edu	37	chr10	99531377	99531377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcaggttgggcagccGcatgcgcttgtagcccaccg	13	15	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:99531377G>A	uc001kor.3	-	1	380	c.214C>T	c.(214-216)CGG>TGG	p.R72W		NM_003015	NP_003006	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5 precursor	72	FZ.				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(1)	1		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		TTGGGCAGCCGCATGCGCTTG	0.692													A	99531377	G	A	99531377	3	1	131	1	0	0	0	0	1	0	0	0	14164	1086	38	1	751	1	SFRP5	10	99531377	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	391874	99531377	36003370	1130	77305											
CRTAC1	55118	broad.mit.edu	37	chr10	99625397	99625397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagtggcagctccagcagCggcagcagcagcggcagtgg	17	12	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:99625397C>T	uc001kou.1	-	15	2250	c.1894G>A	c.(1894-1896)GCT>ACT	p.A632T	GOLGA7B_uc001kos.2_Silent_p.S148S|CRTAC1_uc001kot.1_Silent_p.P407P	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	632	Ala-rich.					proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		gctccagcagcggcagcagca	0.488													T	99625397	C	T	99625397	3	4	131	1	0	0	0	0	1	0	0	0	3896	768	27	1	95	1	CRTAC1	10	99625397	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	94020	99625397	35909350	1131	77306											
CNNM1	26507	broad.mit.edu	37	chr10	101089318	101089318	+	Frame_Shift_Del	DEL	G	G	-													ggaggccgcgtgtccctggaGgggggcaccctgcgcgccgc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:101089318delG	uc001kpp.3	+	1	463	c.174delG	c.(172-174)GAGfs	p.E58fs	CNNM1_uc009xwe.2_Frame_Shift_Del_p.E58fs|CNNM1_uc010qpi.1_Frame_Shift_Del_p.E58fs|CNNM1_uc009xwf.2_Frame_Shift_Del_p.E58fs	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	58					ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TGTCCCTGGAGGGGGGCACCC	0.632													-	101089318	G	-	101089318	7	5	131	1	0	1	0	1	0	0	0	0	3612	991	35	0	176	0	CNNM1	10	101089318	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	1463921	101089318	34445429	1132	77307											
CNNM1	26507	broad.mit.edu	37	chr10	101120624	101120624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagcagagggtcccgcaaCgggagcggaagcggcatgac	16	10	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:101120624C>T	uc001kpp.3	+	3	2039	c.1750C>T	c.(1750-1752)CGG>TGG	p.R584W	CNNM1_uc009xwe.2_Missense_Mutation_p.R584W|CNNM1_uc010qpi.1_Missense_Mutation_p.R584W|CNNM1_uc009xwf.2_Missense_Mutation_p.R584W|CNNM1_uc009xwg.2_Translation_Start_Site	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	584					ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GGTCCCGCAACGGGAGCGGAA	0.522													T	101120624	C	T	101120624	3	4	131	1	0	0	0	0	1	0	0	0	3612	527	19	1	1760	1	CNNM1	10	101120624	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	31306	101120624	34414123	1133	77308											
NKX2-3	159296	broad.mit.edu	37	chr10	101295035	101295035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggagcttggcgcacacGcgcccccgccgccgccgcgc	13	21	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:101295035G>A	uc009xwj.2	+	2	851	c.652G>A	c.(652-654)GCG>ACG	p.A218T		NM_145285	NP_660328	Q8TAU0	NKX23_HUMAN	NK2 transcription factor related, locus 3	218						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.45e-08)		TGGCGCACAcgcgcccccgcc	0.547													A	101295035	G	A	101295035	3	1	131	1	0	0	0	0	1	0	0	0	10451	1087	38	1	658	1	NKX2-3	10	101295035	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	174411	101295035	34239712	1134	77309											
ENTPD7	57089	broad.mit.edu	37	chr10	101464363	101464363	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgaattcaccaccgacaaAcacgagcctcagctccattg	7	16	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:101464363A>G	uc001kqa.3	+	13	1916	c.1738A>G	c.(1738-1740)ACA>GCA	p.T580A	ENTPD7_uc009xwl.2_Missense_Mutation_p.T582A	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	580	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CCACCGACAAACACGAGCCTC	0.542													G	101464363	A	G	101464363	3	3	131	1	0	0	0	0	1	0	0	0	5144	43	2	3	1784	3	ENTPD7	10	101464363	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	169328	101464363	34070384	1135	77310											
FGF8	2253	broad.mit.edu	37	chr10	103531218	103531218	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctgcctgctggggcctcAccttggcgatcagcttcccc	10	18	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:103531218A>G	uc001ktp.1	-	5	581	c.411_splice	c.e5+1	p.K137_splice	FGF8_uc001ktq.1_Splice_Site_p.K148_splice|FGF8_uc001ktr.1_Splice_Site_p.K119_splice|FGF8_uc001kts.1_Splice_Site_p.K108_splice|FGF8_uc009xwr.1_Splice_Site_p.K44_splice	NM_033164	NP_149354	P55075	FGF8_HUMAN	fibroblast growth factor 8 isoform E precursor						bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CTGGGGCCTCACCTTGGCGAT	0.612													G	103531218	A	G	103531218	5	3	131	1	0	0	0	0	0	0	1	0	5858	173	6	3	296	3	FGF8	10	103531218	Splice_Site	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	2066855	103531218	32003529	1136	77311											
HPS6	79803	broad.mit.edu	37	chr10	103827533	103827533	+	Frame_Shift_Del	DEL	C	C	-													tatgggaccccagcactccaCccccgactccacctcgggac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:103827532_103827532AC>A	uc001kuj.3	+	0	2409	c.2301_2301AC>A	c.(2299-2301)ccafs	p.P767fs		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.	767						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CCAGCACTCCACCCCCGACTC	0.597									Hermansky-Pudlak syndrome				-	103827533	C	-	103827533	7	5	131	1	0	1	0	1	0	0	0	0	7343	507	18	0	2304	0	HPS6	10	103827533	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	296315	103827533	31707214	1137	77312											
GBF1	8729	broad.mit.edu	37	chr10	104128195	104128195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagacaatcatccagaaaGccatctcaggcttcaggtag	10	10	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:104128195G>A	uc001kux.1	+	22	3100	c.2860G>A	c.(2860-2862)GCC>ACC	p.A954T	GBF1_uc001kuy.1_Missense_Mutation_p.A954T|GBF1_uc001kuz.1_Missense_Mutation_p.A955T	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	954					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CATCCAGAAAGCCATCTCAGG	0.502													A	104128195	G	A	104128195	3	1	131	1	0	0	0	0	1	0	0	0	6271	971	34	2	2942	2	GBF1	10	104128195	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	300662	104128195	31406552	1138	77313											
CNNM2	54805	broad.mit.edu	37	chr10	104836892	104836892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgaacagaactgtgtgacGcacagtaaggccaaccacag	10	11	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:104836892G>A	uc001kwm.2	+	8	2707	c.2583G>A	c.(2581-2583)ACG>ACA	p.T861T	CNNM2_uc001kwn.2_Silent_p.T839T	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	861					ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACTGTGTGACGCACAGTAAGG	0.612													A	104836892	G	A	104836892	2	1	131	1	0	0	0	0	0	0	0	1	3613	1074	38	1		1	CNNM2	10	104836892	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	708697	104836892	30697855	1139	77314											
PDCD11	22984	broad.mit.edu	37	chr10	105162907	105162907	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgcgtattttgggttgCgtgaaagaggtgaatgaact	15	3	0	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:105162907C>T	uc001kwy.1	+	4	354	c.267C>T	c.(265-267)TGC>TGT	p.C89C		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	89	S1 motif 1.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTTTGGGTTGCGTGAAAGAGG	0.458													T	105162907	C	T	105162907	2	4	131	1	0	0	0	0	0	0	0	1	11617	776	27	1		1	PDCD11	10	105162907	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	326015	105162907	30371840	1140	77315											
PDCD11	22984	broad.mit.edu	37	chr10	105185248	105185248	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggaagacggtcactgccCgagtgattggcgggcgagac	17	9	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:105185248C>T	uc001kwy.1	+	20	3358	c.3271C>T	c.(3271-3273)CGA>TGA	p.R1091*		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1091	S1 motif 9.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGTCACTGCCCGAGTGATTGG	0.537													T	105185248	C	T	105185248	4	4	131	1	0	0	0	0	0	1	0	0	11617	644	23	1	3345	1	PDCD11	10	105185248	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	22341	105185248	30349499	1141	77316											
PDCD11	22984	broad.mit.edu	37	chr10	105200090	105200090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagagctgtctttcctccccGgagacactgggaagccagac	11	13	1	3	rs141994658		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:105200090G>A	uc001kwy.1	+	29	4279	c.4192G>A	c.(4192-4194)GGA>AGA	p.G1398R		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1398					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTTCCTCCCCGGAGACACTGG	0.393													A	105200090	G	A	105200090	3	1	131	1	0	0	0	0	1	0	0	0	11617	1117	39	1	4302	1	PDCD11	10	105200090	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	14842	105200090	30334657	1142	77317											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105372688	105372688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagacagtcctgtcaggaaCgcccacggcactgccattgg	13	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:105372688C>T	uc001kxj.1	-	11	1236	c.1096G>A	c.(1096-1098)GTT>ATT	p.V366I	SH3PXD2A_uc010qqr.1_Missense_Mutation_p.V256I|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.V201I|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.V243I|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.V201I|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.V309I	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	394					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CTGTCAGGAACGCCCACGGCA	0.632													T	105372688	C	T	105372688	3	4	131	1	0	0	0	0	1	0	0	0	14256	536	19	1	2237	1	SH3PXD2A	10	105372688	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	172598	105372688	30162059	1143	77318											
VTI1A	143187	broad.mit.edu	37	chr10	114428018	114428019	+	Frame_Shift_Del	DEL	AG	AG	-													tggaaaaccttagtcatgacAgagaaaagatacagcgagca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:114428017_114428018CAG>C	uc001kzz.3	+	5	844_845	c.468_469CAG>C	c.(466-471)gacagafs	p.D156fs	VTI1A_uc001kzy.3_Frame_Shift_Del_p.D156fs	NM_145206	NP_660207	Q96AJ9	VTI1A_HUMAN	Homo sapiens vesicle transport through interaction with t-SNAREs homolog 1A (yeast) (VTI1A), mRNA.	156					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	SNAP receptor activity|protein transporter activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		TTAGTCATGACAGAGAAAAGAT	0.356			T	TCF7L2	colorectal								-	114428019	AG	-	114428018	7	5	131	1	0	1	0	1	0	0	0	0	17232	180	7	0	491	0	VTI1A	10	114428018	Frame_Shift_Del	DEL	AG	TCGA-BR-A4QL-01A-31D-A25D-08	9055330	114428018	21106729	1144	77319											
TCF7L2	6934	broad.mit.edu	37	chr10	114912186	114912186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtaccccggctggtccgCgcgggataactatgtaggtg	14	11	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:114912186C>T	uc001lae.3	+	11	1763	c.1256C>T	c.(1255-1257)GCG>GTG	p.A419V	TCF7L2_uc001lac.3_Missense_Mutation_p.A396V|TCF7L2_uc010qrk.1_Missense_Mutation_p.A396V|TCF7L2_uc010qrl.1_Missense_Mutation_p.A396V|TCF7L2_uc010qrm.1_Missense_Mutation_p.A419V|TCF7L2_uc010qrn.1_Missense_Mutation_p.A362V|TCF7L2_uc001lad.3_Missense_Mutation_p.A392V|TCF7L2_uc001lag.3_Missense_Mutation_p.A443V|TCF7L2_uc001laf.3_Missense_Mutation_p.A396V|TCF7L2_uc010qro.1_Missense_Mutation_p.A396V|TCF7L2_uc001lah.2_Missense_Mutation_p.A401V|TCF7L2_uc010qrp.1_Missense_Mutation_p.A396V|TCF7L2_uc010qrq.1_Missense_Mutation_p.A392V|TCF7L2_uc010qrr.1_Missense_Mutation_p.A334V|TCF7L2_uc010qrs.1_Missense_Mutation_p.A290V|TCF7L2_uc010qrt.1_Missense_Mutation_p.A290V|TCF7L2_uc010qru.1_Missense_Mutation_p.A318V|TCF7L2_uc010qrv.1_Missense_Mutation_p.A236V|TCF7L2_uc010qrw.1_Missense_Mutation_p.A123V|TCF7L2_uc010qrx.1_Missense_Mutation_p.A276V	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	419					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GGCTGGTCCGCGCGGGATAAC	0.527													T	114912186	C	T	114912186	3	4	131	1	0	0	0	0	1	0	0	0	15695	768	27	1	1443	1	TCF7L2	10	114912186	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	484168	114912186	20622561	1145	77320											
NHLRC2	374354	broad.mit.edu	37	chr10	115662308	115662308	+	Frame_Shift_Del	DEL	A	A	-													cccttggagtaacatgggacAaaaaaaggaatttactttat							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:115662307_115662307CA>C	uc001lax.2	+	7	1690	c.1449_1449CA>C	c.(1447-1449)gacfs	p.D483fs	NHLRC2_uc001lay.2_Non-coding_Transcript	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	Homo sapiens NHL repeat containing 2 (NHLRC2), mRNA.	483					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TAACATGGGACAAAAAAAGGA	0.323													-	115662308	A	-	115662308	7	5	131	1	0	1	0	1	0	0	0	0	10406	131	5	0	1480	0	NHLRC2	10	115662308	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	750122	115662308	19872439	1146	77321											
AFAP1L2	84632	broad.mit.edu	37	chr10	116082999	116082999	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agactccgtctttgggatggCaagctgtttccgttctggaa	12	9	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:116082999C>G	uc001lbn.2	-	5	638	c.337G>C	c.(337-339)GCC>CCC	p.A113P	AFAP1L2_uc001lbo.2_Missense_Mutation_p.A113P|AFAP1L2_uc010qse.1_Missense_Mutation_p.A166P|AFAP1L2_uc001lbp.2_Missense_Mutation_p.A113P|AFAP1L2_uc001lbr.1_Missense_Mutation_p.A113P	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	KIAA1914 protein isoform 1	113					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			ovary(1)|breast(1)	2		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TTTGGGATGGCAAGCTGTTTC	0.498													G	116082999	C	G	116082999	3	3	131	1	0	0	0	0	1	0	0	0	355	710	25	5	2179	5	AFAP1L2	10	116082999	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	420691	116082999	19451748	1147	77322											
KIAA1598	57698	broad.mit.edu	37	chr10	118708437	118708437	+	Frame_Shift_Del	DEL	T	T	-													acagacttacctctattgcaTttttctaagacttttctctg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:118708437delT	uc009xyw.2	-	7	1104	c.606delA	c.(604-606)AAAfs	p.K202fs	KIAA1598_uc001lcz.3_Frame_Shift_Del_p.K202fs|KIAA1598_uc010qso.1_Frame_Shift_Del_p.K142fs|KIAA1598_uc010qsp.1_Frame_Shift_Del_p.K202fs|KIAA1598_uc010qsq.1_Frame_Shift_Del_p.K142fs|KIAA1598_uc001lcy.3_Frame_Shift_Del_p.K172fs	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN	shootin1 isoform a	202	Potential.				axon guidance	axon					0				all cancers(201;0.00494)		CTCTATTGCATTTTTCTAAGA	0.318													-	118708437	T	-	118708437	7	5	131	1	0	1	0	1	0	0	0	0	8246	1490	52	0	1333	0	KIAA1598	10	118708437	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	2625438	118708437	16826310	1148	77323											
VAX1	11023	broad.mit.edu	37	chr10	118896129	118896129	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttaggccggtccaagtccaGgcccttgggcaggatgatct	13	12	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:118896129G>T	uc009xyx.2	-	2	528	c.283C>A	c.(283-285)CTG>ATG	p.L95M	VAX1_uc001ldb.1_Missense_Mutation_p.L95M	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1 isoform a	95						nucleus	sequence-specific DNA binding			ovary(2)	2				all cancers(201;0.0108)		TCCAAGTCCAGGCCCTTGGGC	0.657													T	118896129	G	T	118896129	3	4	131	1	0	0	0	0	1	0	0	0	17131	991	35	5	869	5	VAX1	10	118896129	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	187692	118896129	16638618	1149	77324											
INPP5F	22876	broad.mit.edu	37	chr10	121582587	121582587	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatttgggattttaggcccTgaacccactctttttggtaa	8	9	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:121582587T>C	uc001leo.2	+	18	2203	c.2037T>C	c.(2035-2037)CCT>CCC	p.P679P	INPP5F_uc001lep.2_Silent_p.P69P	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	679							phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TTTTAGGCCCTGAACCCACTC	0.368													C	121582587	T	C	121582587	2	2	131	1	0	0	0	0	0	0	0	1	7758	1567	55	3		3	INPP5F	10	121582587	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	2686458	121582587	13952160	1150	77325											
WDR11	55717	broad.mit.edu	37	chr10	122645359	122645359	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcacaacttgaagagcctgAgaaagaagcaacttgcaact	8	10	1	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:122645359A>G	uc010qtf.1	+	15	2120	c.1882A>G	c.(1882-1884)AGA>GGA	p.R628G	WDR11_uc010qte.1_Missense_Mutation_p.R230G|WDR11_uc001lfd.1_Missense_Mutation_p.R146G|WDR11_uc009xzn.2_5'Flank	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	628						integral to membrane					0						GAAGAGCCTGAGAAAGAAGCA	0.473													G	122645359	A	G	122645359	3	3	131	1	0	0	0	0	1	0	0	0	17270	296	11	3	1940	3	WDR11	10	122645359	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1062772	122645359	12889388	1151	77326											
TACC2	10579	broad.mit.edu	37	chr10	123970335	123970335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaactaaaaaaccgaggcCgccttccttaaaaaagaaac	7	11	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:123970335C>T	uc001lfv.2	+	9	6755	c.6395C>T	c.(6394-6396)CCG>CTG	p.P2132L	TACC2_uc001lfw.2_Missense_Mutation_p.P278L|TACC2_uc009xzx.2_Missense_Mutation_p.P2087L|TACC2_uc010qtv.1_Missense_Mutation_p.P2136L|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Missense_Mutation_p.P210L|TACC2_uc001lga.2_Missense_Mutation_p.P210L|TACC2_uc009xzy.2_Missense_Mutation_p.P210L|TACC2_uc001lgb.2_Missense_Mutation_p.P167L|TACC2_uc010qtw.1_Missense_Mutation_p.P227L	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2132						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAACCGAGGCCGCCTTCCTTA	0.547													T	123970335	C	T	123970335	3	4	131	1	0	0	0	0	1	0	0	0	15499	652	23	1	6497	1	TACC2	10	123970335	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1324976	123970335	11564412	1152	77327											
CTBP2	1488	broad.mit.edu	37	chr10	126727587	126727587	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacaaattctgtccaatcGctgtctcttgactttgtgct	6	11	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:126727587G>A	uc009yak.2	-	3	324	c.37C>T	c.(37-39)CGA>TGA	p.R13*	CTBP2_uc009yal.2_Nonsense_Mutation_p.R13*|CTBP2_uc001lif.3_Nonsense_Mutation_p.R13*|CTBP2_uc001lih.3_Nonsense_Mutation_p.R13*	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	13					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTGTCCAATCGCTGTCTCTTG	0.453													A	126727587	G	A	126727587	4	1	131	1	0	0	0	0	0	1	0	0	3998	1095	38	1	3018	1	CTBP2	10	126727587	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2757252	126727587	8807160	1153	77328											
C10orf137	26098	broad.mit.edu	37	chr10	127438079	127438079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgaaagatgctccctgCgaactgcttagagtacagct	10	11	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:127438079C>T	uc001liq.1	+	22	3515	c.3222C>T	c.(3220-3222)TGC>TGT	p.C1074C	C10orf137_uc001lio.1_Silent_p.C1040C|C10orf137_uc001lip.1_Silent_p.C778C|C10orf137_uc001lis.1_Silent_p.C400C|C10orf137_uc001lit.1_5'UTR	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	1074					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATGCTCCCTGCGAACTGCTTA	0.443													T	127438079	C	T	127438079	2	4	131	1	0	0	0	0	0	0	0	1	1594	776	27	1		1	C10orf137	10	127438079	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	710492	127438079	8096668	1154	77329											
DOCK1	1793	broad.mit.edu	37	chr10	128851058	128851058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcttcaagttcatcgtgcGctccaggatcctgttcaatc	7	13	4	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:128851058G>A	uc001ljt.2	+	22	2316	c.2252G>A	c.(2251-2253)CGC>CAC	p.R751H	DOCK1_uc010qun.1_Missense_Mutation_p.R772H	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	751					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTCATCGTGCGCTCCAGGATC	0.458													A	128851058	G	A	128851058	3	1	131	1	0	0	0	0	1	0	0	0	4684	1087	38	1	2338	1	DOCK1	10	128851058	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1412979	128851058	6683689	1155	77330											
MKI67	4288	broad.mit.edu	37	chr10	129902379	129902379	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttttgtcaatagtcatTgactcttcagtgtgacctgg	10	7	4	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:129902379T>C	uc001lke.2	-	13	7920	c.7725A>G	c.(7723-7725)TCA>TCG	p.S2575S	MKI67_uc001lkf.2_Silent_p.S2215S|MKI67_uc009yav.1_Silent_p.S2150S|MKI67_uc009yaw.1_Silent_p.S1725S	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2575	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CAATAGTCATTGACTCTTCAG	0.498													C	129902379	T	C	129902379	2	2	131	1	0	0	0	0	0	0	0	1	9598	1799	63	3		3	MKI67	10	129902379	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1051321	129902379	5632368	1156	77331											
EBF3	253738	broad.mit.edu	37	chr10	131641447	131641447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcttccaccaggtccgccGcccgcttcagtaacacctcc	8	19	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:131641447G>A	uc001lki.1	-	12	1180	c.1121C>T	c.(1120-1122)GCG>GTG	p.A374V		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	383					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CAGGTCCGCCGCCCGCTTCAG	0.602													A	131641447	G	A	131641447	3	1	131	1	0	0	0	0	1	0	0	0	4882	1087	38	1	554	1	EBF3	10	131641447	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1739068	131641447	3893300	1157	77332											
NKX6-2	84504	broad.mit.edu	37	chr10	134598431	134598431	+	Frame_Shift_Del	DEL	C	C	-													cgcgggtcctcacaaggcgtCccccgcgccgccgccgcacg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:134598431delC	uc001llr.2	-	3	908	c.823delG	c.(823-825)GACfs	p.D275fs		NM_177400	NP_796374	Q9C056	NKX62_HUMAN	NK6 transcription factor related, locus 2	275						nucleus	sequence-specific DNA binding transcription factor activity				0		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		CACAAGGCGTCCCCCGCGCCG	0.637													-	134598431	C	-	134598431	7	5	131	1	0	1	0	1	0	0	0	0	10458	855	30	0	14	0	NKX6-2	10	134598431	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	2956984	134598431	936316	1158	77333											
GPR123	84435	broad.mit.edu	37	chr10	134942560	134942560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagggcgccttcgggcacGacccccacctgcacgggtgc	15	16	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr10:134942560G>A	uc001llx.3	+	7	1664	c.1228G>A	c.(1228-1230)GAC>AAC	p.D410N	GPR123_uc001llw.2_Missense_Mutation_p.D1129N	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	410	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CTTCGGGCACGACCCCCACCT	0.682													A	134942560	G	A	134942560	3	1	131	1	0	0	0	0	1	0	0	0	6637	1058	37	1	1250	1	GPR123	10	134942560	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	344129	134942560	592187	1159	77334											
B4GALNT4	338707	broad.mit.edu	37	chr11	375731	375731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgcaggaggagaccagcGcagacatgctgcggccagat	15	13	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:375731G>A	uc001lpb.2	+	10	952	c.943G>A	c.(943-945)GCA>ACA	p.A315T		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	315	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAGACCAGCGCAGACATGCT	0.562													A	375731	G	A	375731	3	1	131	1	0	0	0	0	1	0	0	0	1269	1087	38	1	981	1	B4GALNT4	11	375731	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08		375731	134630785	1160	77335											
MUC6	4588	broad.mit.edu	37	chr11	1013590	1013590	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataggagtggagggggcggcAgcagctgcagcgggcatcca	19	9	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:1013590A>G	uc001lsw.2	-	33	7237	c.7186T>C	c.(7186-7188)TGC>CGC	p.C2396R		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	2396	CTCK.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGGGGCGGCAGCAGCTGCAG	0.647													G	1013590	A	G	1013590	3	3	131	1	0	0	0	0	1	0	0	0	9980	188	7	3	137	3	MUC6	11	1013590	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	637859	1013590	133992926	1161	77336											
MUC2	4583	broad.mit.edu	37	chr11	1084335	1084335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagaaggaatgcccttgcGtccataacaacgacctgtat	10	10	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:1084335G>A	uc001lsx.1	+	19	2494	c.2467G>A	c.(2467-2469)GTC>ATC	p.V823I		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	823						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ATGCCCTTGCGTCCATAACAA	0.622													A	1084335	G	A	1084335	3	1	131	1	0	0	0	0	1	0	0	0	9975	1145	40	1	2541	1	MUC2	11	1084335	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	70745	1084335	133922181	1162	77337											
MUC2	4583	broad.mit.edu	37	chr11	1096474	1096474	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcgacaactaccactgcgatCccaacgacaaggtgtcctgt	8	14	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:1096474C>A	uc001lsx.1	+	37	13612	c.13585C>A	c.(13585-13587)CCC>ACC	p.P4529T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4529	VWFD 4.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCACTGCGATCCCAACGACAA	0.582													A	1096474	C	A	1096474	3	1	131	1	0	0	0	0	1	0	0	0	9975	855	30	5	6625	5	MUC2	11	1096474	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	12139	1096474	133910042	1163	77338											
MUC5B	727897	broad.mit.edu	37	chr11	1251778	1251780	+	In_Frame_Del	DEL	ACA	ACA	-													gcggaagtgcggcctgacggAcaacgagaactgcctgaaag					rs151023614	by1000genomes	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:1251777_1251779GACA>G	uc001lta.3	+	11	1476_1478	c.1417_1419GACA>G	c.(1417-1419)gac>G	p.D473del	MUC5B_uc021qbr.1_Intron|MUC5B_uc009yct.2_In_Frame_Del_p.D473del	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	473	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCCTGACGGACAACGAGAACT	0.65													-	1251780	ACA	-	1251778	7	5	131	1	0	1	0	1	0	0	0	0	9979	275	10	0	1473	0	MUC5B	11	1251778	In_Frame_Del	DEL	ACA	TCGA-BR-A4QL-01A-31D-A25D-08	155304	1251778	133754738	1164	77339											
MUC5B	727897	broad.mit.edu	37	chr11	1278846	1278846	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagcccctgccctgtgaCgcccagggtcagcccccgcc	11	20	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:1278846C>T	uc009ycr.1	+	63	17493	c.17367C>T	c.(17365-17367)GAC>GAT	p.D5789D	MUC5B_uc001ltb.2_Silent_p.D5455D	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	5452	VWFC 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGCCCTGTGACGCCCAGGGTC	0.677													T	1278846	C	T	1278846	2	4	131	1	0	0	0	0	0	0	0	1	9979	535	19	1		1	MUC5B	11	1278846	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	27068	1278846	133727670	1165	77340											
OSBPL5	114879	broad.mit.edu	37	chr11	3125509	3125509	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaacgtgggtagcaccacGcgggacaggtccatgcctgg	15	12	0	0	rs138582624	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:3125509G>A	uc001lxk.2	-	10	1316	c.1158C>T	c.(1156-1158)CGC>CGT	p.R386R	OSBPL5_uc010qxq.1_Silent_p.R297R|OSBPL5_uc009ydw.2_Silent_p.R318R|OSBPL5_uc001lxl.2_Silent_p.R318R|OSBPL5_uc009ydx.2_Silent_p.R410R	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	oxysterol-binding protein-like protein 5 isoform	386					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GTAGCACCACGCGGGACAGGT	0.622													A	3125509	G	A	3125509	2	1	131	1	0	0	0	0	0	0	0	1	11280	1074	38	1		1	OSBPL5	11	3125509	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1846663	3125509	131881007	1166	77341											
RRM1	6240	broad.mit.edu	37	chr11	4148290	4148290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatcaaataaacgccatcGccccattggaattggggtac	8	12	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:4148290G>A	uc001lyw.3	+	14	1815	c.1496G>A	c.(1495-1497)CGC>CAC	p.R499H	RRM1_uc009yej.2_RNA|RRM1_uc009yei.2_Missense_Mutation_p.R459H|RRM1_uc010qyc.1_Missense_Mutation_p.R402H|RRM1_uc010qyd.1_Missense_Mutation_p.R161H	NM_001033	NP_001024	P23921	RIR1_HUMAN	ribonucleoside-diphosphate reductase M1 chain	499					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	AAACGCCATCGCCCCATTGGA	0.408													A	4148290	G	A	4148290	3	1	131	1	0	0	0	0	1	0	0	0	13681	1087	38	1	1550	1	RRM1	11	4148290	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1022781	4148290	130858226	1167	77342											
OR52H1	390067	broad.mit.edu	37	chr11	5566416	5566416	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatccaggacaaagttatagTgaaggaagaacatttgtgta	10	4	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:5566416T>C	uc010qzh.1	-	1	338	c.338A>G	c.(337-339)CAC>CGC	p.H113R	HBG2_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H,	113	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGTTATAGTGAAGGAAGAA	0.458													C	5566416	T	C	5566416	3	2	131	1	0	0	0	0	1	0	0	0	11119	1696	59	3	627	3	OR52H1	11	5566416	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1418126	5566416	129440100	1168	77343											
OR52E4	390081	broad.mit.edu	37	chr11	5905781	5905781	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccccaaaatgctaggaatcTtctggttcaacctccaagag	7	12	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:5905781T>C	uc010qzs.1	+	1	259	c.259T>C	c.(259-261)TTC>CTC	p.F87L	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	87	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTAGGAATCTTCTGGTTCAA	0.453													C	5905781	T	C	5905781	3	2	131	1	0	0	0	0	1	0	0	0	11116	1609	56	3	261	3	OR52E4	11	5905781	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	339365	5905781	129100735	1169	77344											
CNGA4	1262	broad.mit.edu	37	chr11	6261451	6261451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccaccctgaggctgaacCgctttctccgcgcgccccgc	9	21	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:6261451C>T	uc001mco.2	+	4	534	c.427C>T	c.(427-429)CGC>TGC	p.R143C	CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.R103C	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	143	Extracellular (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGCTGAACCGCTTTCTCCG	0.607													T	6261451	C	T	6261451	3	4	131	1	0	0	0	0	1	0	0	0	3599	652	23	1	441	1	CNGA4	11	6261451	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	355670	6261451	128745065	1170	77345											
DNHD1	144132	broad.mit.edu	37	chr11	6592278	6592278	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttgcagcagctgaagggCgcacccccgtgcccctcccg	12	18	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:6592278C>T	uc001mdw.3	+	42	14100	c.13536C>T	c.(13534-13536)GGC>GGT	p.G4512G	DNHD1_uc001mea.3_Silent_p.G781G|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Silent_p.G780G|DNHD1_uc010rao.1_Silent_p.G770G|DNHD1_uc009yfg.2_Silent_p.G137G	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	4512					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AGCTGAAGGGCGCACCCCCGT	0.682													T	6592278	C	T	6592278	2	4	131	1	0	0	0	0	0	0	0	1	4668	755	27	1		1	DNHD1	11	6592278	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	330827	6592278	128414238	1171	77346											
RRP8	23378	broad.mit.edu	37	chr11	6623374	6623374	+	Frame_Shift_Del	DEL	G	G	-													gagtcacttatacataggctGgggggatgctgggaaagaga							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:6623374delG	uc001med.2	-	2	250	c.171delC	c.(169-171)CCCfs	p.P57fs	ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase,	57					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity				0						TACATAGGCTGGGGGGATGCT	0.557													-	6623374	G	-	6623374	7	5	131	1	0	1	0	1	0	0	0	0	13690	1335	47	0	1223	0	RRP8	11	6623374	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	31096	6623374	128383142	1172	77347											
ILK	3611	broad.mit.edu	37	chr11	6629392	6629392	+	Frame_Shift_Del	DEL	C	C	-													aatgaaccgtggggatgacaCccccctgcatctggcagcca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:6629392delC	uc001mee.2	+	3	341	c.206delC	c.(205-207)ACCfs	p.T69fs	ILK_uc001mef.2_Frame_Shift_Del_p.T69fs|ILK_uc010rap.1_Intron|ILK_uc010raq.1_Frame_Shift_Del_p.T69fs|ILK_uc001meg.2_5'UTR|ILK_uc001meh.2_Frame_Shift_Del_p.T69fs|ILK_uc001mei.2_5'Flank	NM_001014794	NP_001014794	Q13418	ILK_HUMAN	integrin-linked kinase	69	Interaction with LIMS1.|ANK 3.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GGGGATGACACCCCCCTGCAT	0.557													-	6629392	C	-	6629392	7	5	131	1	0	1	0	1	0	0	0	0	7713	507	18	0	212	0	ILK	11	6629392	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	6018	6629392	128377124	1173	77348											
DCHS1	8642	broad.mit.edu	37	chr11	6653519	6653519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcagctttggacccagacActgccattaccttcagtatg	7	13	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:6653519A>G	uc001mem.1	-	6	3634	c.3224T>C	c.(3223-3225)GTG>GCG	p.V1075A		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1075	Cadherin 10.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGACCCAGACACTGCCATTAC	0.577													G	6653519	A	G	6653519	3	3	131	1	0	0	0	0	1	0	0	0	4287	159	6	3	6736	3	DCHS1	11	6653519	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	24127	6653519	128352997	1174	77349											
SYT9	143425	broad.mit.edu	37	chr11	7334764	7334764	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcattggataatgatgaCgggagacggagtaacagcaa	14	5	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:7334764C>T	uc001mfe.2	+	3	873	c.636C>T	c.(634-636)GAC>GAT	p.D212D	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	212	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATAATGATGACGGGAGACGGA	0.403													T	7334764	C	T	7334764	2	4	131	1	0	0	0	0	0	0	0	1	15478	535	19	1		1	SYT9	11	7334764	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	681245	7334764	127671752	1175	77350											
TMEM41B	440026	broad.mit.edu	37	chr11	9308018	9308018	+	Frame_Shift_Del	DEL	A	A	-													ttacctagaaaagtaccaatAaaaaaaactttcaatggcac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:9308017_9308017TA>T	uc001mhm.3	-	5	1018	c.691_691TA>A	c.(691-693)attfs	p.I231fs	TMEM41B_uc001mhn.2_Frame_Shift_Del_p.I231fs	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN	Homo sapiens transmembrane protein 41B (TMEM41B), transcript variant 1, mRNA.	231						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		AAAGTACCAATAAAAAAAACT	0.363													-	9308018	A	-	9308018	7	5	131	1	0	1	0	1	0	0	0	0	16162	359	13	0	193	0	TMEM41B	11	9308018	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	1973254	9308018	125698498	1176	77351											
MICAL2	9645	broad.mit.edu	37	chr11	12247894	12247894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagttctacgagctcttccGgggcaccccactgaggcccg	11	16	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:12247894G>A	uc001mjz.2	+	14	2153	c.1865G>A	c.(1864-1866)CGG>CAG	p.R622Q	MICAL2_uc010rch.1_Missense_Mutation_p.R622Q|MICAL2_uc001mka.2_Missense_Mutation_p.R622Q|MICAL2_uc010rci.1_Missense_Mutation_p.R622Q|MICAL2_uc001mkb.2_Missense_Mutation_p.R622Q|MICAL2_uc001mkc.2_Missense_Mutation_p.R622Q|MICAL2_uc001mkd.2_Missense_Mutation_p.R451Q|MICAL2_uc010rcj.1_Missense_Mutation_p.R24Q	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	622						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		GAGCTCTTCCGGGGCACCCCA	0.587													A	12247894	G	A	12247894	3	1	131	1	0	0	0	0	1	0	0	0	9570	1116	39	1	1911	1	MICAL2	11	12247894	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2939876	12247894	122758622	1177	77352											
MICAL2	9645	broad.mit.edu	37	chr11	12247914	12247914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcaccccactgaggcccGtgggtaagcacctgcacaga	14	14	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:12247914G>A	uc001mjz.2	+	14	2173	c.1885G>A	c.(1885-1887)GTG>ATG	p.V629M	MICAL2_uc010rch.1_Missense_Mutation_p.V629M|MICAL2_uc001mka.2_Missense_Mutation_p.V629M|MICAL2_uc010rci.1_Missense_Mutation_p.V629M|MICAL2_uc001mkb.2_Missense_Mutation_p.V629M|MICAL2_uc001mkc.2_Missense_Mutation_p.V629M|MICAL2_uc001mkd.2_Missense_Mutation_p.V458M|MICAL2_uc010rcj.1_Missense_Mutation_p.V31M	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	629						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		ACTGAGGCCCGTGGGTAAGCA	0.572													A	12247914	G	A	12247914	3	1	131	1	0	0	0	0	1	0	0	0	9570	1145	40	1	1931	1	MICAL2	11	12247914	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	20	12247914	122758602	1178	77353											
SAAL1	113174	broad.mit.edu	37	chr11	18105214	18105214	+	Frame_Shift_Del	DEL	T	T	-													gactctgccgagttctctggTtttttctgacactgttccat							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:18105214delT	uc001mnq.2	-	10	1157	c.1107delA	c.(1105-1107)AAAfs	p.K369fs	SAAL1_uc001mnr.2_Frame_Shift_Del_p.K368fs|SAAL1_uc001mns.2_RNA|SAAL1_uc009yhf.2_Frame_Shift_Del_p.K371fs	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	369					acute-phase response	extracellular region	binding				0						AGTTCTCTGGTTTTTTCTGAC	0.368													-	18105214	T	-	18105214	7	5	131	1	0	1	0	1	0	0	0	0	13801	1722	60	0	329	0	SAAL1	11	18105214	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	5857300	18105214	116901302	1179	77354											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955440	18955440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttcatccacctcagacgCgtcctgcagagccctctgga	8	17	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:18955440C>T	uc001mpg.2	-	1	1110	c.892G>A	c.(892-894)GCG>ACG	p.A298T		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	298	Cytoplasmic (Potential).			AS -> TP (in Ref. 2; AAL86880).	acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3						ACCTCAGACGCGTCCTGCAGA	0.562													T	18955440	C	T	18955440	3	4	131	1	0	0	0	0	1	0	0	0	9766	768	27	1	80	1	MRGPRX1	11	18955440	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	850226	18955440	116051076	1180	77355											
E2F8	79733	broad.mit.edu	37	chr11	19256596	19256596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatatcgtaaatgcgtcgaCgttcaacatctacaaagaat	7	9	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:19256596C>T	uc001mpm.2	-	5	983	c.461G>A	c.(460-462)CGT>CAT	p.R154H	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.R154H	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	154	Potential.				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						AATGCGTCGACGTTCAACATC	0.413													T	19256596	C	T	19256596	3	4	131	1	0	0	0	0	1	0	0	0	4873	536	19	1	2178	1	E2F8	11	19256596	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	301156	19256596	115749920	1181	77356											
NAV2	89797	broad.mit.edu	37	chr11	19955389	19955389	+	Frame_Shift_Del	DEL	A	A	-													gcagctgtgcccgagatgccAaaaaagtcctccaagattgc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:19955388_19955388CA>C	uc010rdm.2	+	7	2028	c.1667_1667CA>C	c.(1666-1668)ccafs	p.P556fs	NAV2_uc001mpp.3_Frame_Shift_Del_p.P469fs|NAV2_uc001mpr.4_Frame_Shift_Del_p.P533fs|NAV2_uc021qew.1_Frame_Shift_Del_p.P533fs	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	556						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCCGAGATGCCAAAAAAGTCC	0.552													-	19955389	A	-	19955389	7	5	131	1	0	1	0	1	0	0	0	0	10184	117	5	0	1704	0	NAV2	11	19955389	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	698793	19955389	115051127	1182	77357											
NAV2	89797	broad.mit.edu	37	chr11	20104605	20104605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaagtccccaaaatctgCgtcctctcattcagatattg	7	11	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:20104605C>T	uc001mpr.3	+	26	5748	c.5387C>T	c.(5386-5388)GCG>GTG	p.A1796V	NAV2_uc001mpp.2_Missense_Mutation_p.A1729V|NAV2_uc009yhx.2_Missense_Mutation_p.A857V|NAV2_uc009yhz.2_Missense_Mutation_p.A438V|NAV2_uc001mpu.2_Missense_Mutation_p.A231V	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	1852						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						CCAAAATCTGCGTCCTCTCAT	0.498													T	20104605	C	T	20104605	3	4	131	1	0	0	0	0	1	0	0	0	10184	768	27	1	5598	1	NAV2	11	20104605	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	149216	20104605	114901911	1183	77358											
ANO5	203859	broad.mit.edu	37	chr11	22272355	22272355	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actctgtgatcaagtgtgtgAttattggagactaaatagta	10	4	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:22272355A>T	uc001mqi.2	+	11	1399	c.1082A>T	c.(1081-1083)GAT>GTT	p.D361V	ANO5_uc001mqj.2_Missense_Mutation_p.D360V	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	361	Extracellular (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						CAAGTGTGTGATTATTGGAGA	0.383													T	22272355	A	T	22272355	3	4	131	1	0	0	0	0	1	0	0	0	700	333	12	5	1124	5	ANO5	11	22272355	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	2167750	22272355	112734161	1184	77359											
BDNF	627	broad.mit.edu	37	chr11	27680000	27680000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagagtcccatgggtccGcacacctgggtaggccaagc	12	15	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:27680000G>A	uc010rdu.1	-	2	963	c.112C>T	c.(112-114)CGG>TGG	p.R38W	BDNFOS_uc001mrm.2_RNA|BDNFOS_uc009yij.2_RNA|BDNFOS_uc009yik.2_RNA|BDNFOS_uc009yil.2_RNA|BDNFOS_uc001mrp.2_RNA|BDNFOS_uc009yim.2_RNA|BDNFOS_uc009yin.2_RNA|BDNFOS_uc009yio.2_RNA|BDNFOS_uc009yip.2_RNA|BDNFOS_uc001mrn.2_RNA|BDNFOS_uc009yiq.2_RNA|BDNFOS_uc001mro.2_RNA|BDNFOS_uc009yir.2_RNA|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_RNA|BDNFOS_uc009yiu.2_RNA|BDNFOS_uc009yiv.2_RNA|BDNFOS_uc009yiw.2_RNA|BDNFOS_uc009yix.2_RNA|BDNFOS_uc009yiy.2_RNA|BDNFOS_uc009yiz.2_RNA|BDNFOS_uc001mrq.3_RNA|BDNFOS_uc001mrr.3_RNA|BDNFOS_uc009yja.2_RNA|BDNFOS_uc009yjb.2_RNA|BDNF_uc010rdv.1_Missense_Mutation_p.R38W|BDNF_uc001mrt.2_Missense_Mutation_p.R53W|BDNF_uc010rdw.1_Missense_Mutation_p.R38W|BDNF_uc009yjd.2_Missense_Mutation_p.R38W|BDNF_uc001mru.2_Missense_Mutation_p.R38W|BDNF_uc010rdx.1_Missense_Mutation_p.R38W|BDNF_uc010rdy.1_Missense_Mutation_p.R38W|BDNF_uc009yjg.2_Missense_Mutation_p.R38W|BDNF_uc009yje.2_Missense_Mutation_p.R120W|BDNF_uc009yjf.2_Missense_Mutation_p.R67W|BDNF_uc001mrv.2_Missense_Mutation_p.R38W|BDNF_uc001mrw.3_Missense_Mutation_p.R38W|BDNF_uc001mrx.2_Missense_Mutation_p.R38W|BDNF_uc001mry.3_Missense_Mutation_p.R38W|BDNF_uc001mrz.3_Missense_Mutation_p.R38W|BDNF_uc001msa.2_Missense_Mutation_p.R46W	NM_001143816	NP_001137288	P23560	BDNF_HUMAN	brain-derived neurotrophic factor isoform a	38						extracellular region	growth factor activity				0						CCATGGGTCCGCACACCTGGG	0.507													A	27680000	G	A	27680000	3	1	131	1	0	0	0	0	1	0	0	0	1394	1086	38	1	635	1	BDNF	11	27680000	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	5407645	27680000	107326516	1185	77360											
QSER1	79832	broad.mit.edu	37	chr11	32953667	32953667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccttcagcacttgggggatCccagcagactcctcaagcct	10	15	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:32953667C>T	uc001mty.2	+	4	743	c.476C>T	c.(475-477)TCC>TTC	p.S159F	QSER1_uc001mtz.1_Missense_Mutation_p.S159F|QSER1_uc001mua.2_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	159	Ser-rich.									ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					CTTGGGGGATCCCAGCAGACT	0.443													T	32953667	C	T	32953667	3	4	131	1	0	0	0	0	1	0	0	0	12882	855	30	4	482	4	QSER1	11	32953667	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	5273667	32953667	102052849	1186	77361											
QSER1	79832	broad.mit.edu	37	chr11	32990615	32990615	+	Frame_Shift_Del	DEL	A	A	-													agctacttttacctcatatgAaaaaaatagatggcatgcta							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:32990615delA	uc001mty.2	+	10	5011	c.4744delA	c.(4744-4746)AAAfs	p.K1582fs	QSER1_uc001mtz.1_Frame_Shift_Del_p.K1343fs|QSER1_uc001mua.2_Frame_Shift_Del_p.K1087fs	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1582										ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					ACCTCATATGAAAAAAATAGA	0.279													-	32990615	A	-	32990615	7	5	131	1	0	1	0	1	0	0	0	0	12882	247	9	0	4774	0	QSER1	11	32990615	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	36948	32990615	102015901	1187	77362											
C11orf74	119710	broad.mit.edu	37	chr11	36669606	36669606	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtggagcaggatgtaagCaccagcattccttcctgtat	11	9	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:36669606C>T	uc001mwy.1	+	5	472	c.399C>T	c.(397-399)AGC>AGT	p.S133S	C11orf74_uc010rfd.1_RNA|C11orf74_uc001mww.1_Silent_p.S59S|C11orf74_uc001mwx.1_RNA|C11orf74_uc001mwz.1_Silent_p.S59S|C11orf74_uc010rfe.1_RNA	NM_138787	NP_620142	Q86VG3	CK074_HUMAN	hypothetical protein LOC119710	133											0	all_lung(20;0.226)	all_hematologic(20;0.0118)				AGGATGTAAGCACCAGCATTC	0.458													T	36669606	C	T	36669606	2	4	131	1	0	0	0	0	0	0	0	1	1662	709	25	2		2	C11orf74	11	36669606	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3678991	36669606	98336910	1188	77363											
TTC17	55761	broad.mit.edu	37	chr11	43427343	43427343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcttgtgccaggatccacGaactcagcagtgatgattat	9	9	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:43427343G>A	uc001mxi.2	+	13	1617	c.1603G>A	c.(1603-1605)GAA>AAA	p.E535K	TTC17_uc001mxh.2_Missense_Mutation_p.E535K|TTC17_uc010rfj.1_Missense_Mutation_p.E478K|TTC17_uc001mxj.2_Missense_Mutation_p.E305K	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	535							binding			ovary(5)	5						CAGGATCCACGAACTCAGCAG	0.413													A	43427343	G	A	43427343	3	1	131	1	0	0	0	0	1	0	0	0	16681	1059	37	1	1653	1	TTC17	11	43427343	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	6757737	43427343	91579173	1189	77364											
TTC17	55761	broad.mit.edu	37	chr11	43511893	43511893	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccaggctctgcactatgcGccacaccagatgaaggtgag	12	13	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:43511893G>A	uc001mxi.2	+	22	3149	c.3135G>A	c.(3133-3135)GCG>GCA	p.A1045A	TTC17_uc010rfj.1_Silent_p.A1045A|TTC17_uc001mxl.2_Silent_p.A101A|TTC17_uc001mxm.2_Silent_p.A26A	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1045	TPR 4.						binding			ovary(5)	5						TGCACTATGCGCCACACCAGA	0.567													A	43511893	G	A	43511893	2	1	131	1	0	0	0	0	0	0	0	1	16681	1074	38	1		1	TTC17	11	43511893	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	84550	43511893	91494623	1190	77365											
AMBRA1	55626	broad.mit.edu	37	chr11	46419316	46419316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcaccaggttcagtgcccGtctgagagctgcggtgaatg	15	11	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:46419316G>A	uc010rgu.1	-	18	3941	c.3581C>T	c.(3580-3582)ACG>ATG	p.T1194M	AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.T1165M|AMBRA1_uc001ncu.1_Missense_Mutation_p.T1104M|AMBRA1_uc001ncv.2_Missense_Mutation_p.T1197M|AMBRA1_uc001ncw.2_Missense_Mutation_p.T1075M|AMBRA1_uc001ncx.2_Missense_Mutation_p.T1134M	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	1194					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TTCAGTGCCCGTCTGAGAGCT	0.667													A	46419316	G	A	46419316	3	1	131	1	0	0	0	0	1	0	0	0	565	1145	40	1	319	1	AMBRA1	11	46419316	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2907423	46419316	88587200	1191	77366											
CKAP5	9793	broad.mit.edu	37	chr11	46804910	46804910	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttgtgagaaagccatTgacacaacctgaaaagggaa	9	7	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:46804910T>C	uc001ndi.1	-	18	2273	c.2163A>G	c.(2161-2163)TCA>TCG	p.S721S	CKAP5_uc009ylg.1_Silent_p.S607S|CKAP5_uc001ndj.1_Silent_p.S721S	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	721					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						AGAAAGCCATTGACACAACCT	0.353													C	46804910	T	C	46804910	2	2	131	1	0	0	0	0	0	0	0	1	3445	1799	63	3		3	CKAP5	11	46804910	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	385594	46804910	88201606	1192	77367											
CKAP5	9793	broad.mit.edu	37	chr11	46819663	46819663	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgcatcaattgcctcctgCagggcttgtaccacttgagg	10	11	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:46819663C>T	uc001ndi.1	-	10	1253	c.1143G>A	c.(1141-1143)CTG>CTA	p.L381L	CKAP5_uc009ylg.1_Silent_p.L267L|CKAP5_uc001ndj.1_Silent_p.L381L	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	381	HEAT 2.				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						TTGCCTCCTGCAGGGCTTGTA	0.338													T	46819663	C	T	46819663	2	4	131	1	0	0	0	0	0	0	0	1	3445	697	25	2		2	CKAP5	11	46819663	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	14753	46819663	88186853	1193	77368											
LRP4	4038	broad.mit.edu	37	chr11	46921056	46921057	+	Splice_Site	INS	-	-	G													cggagcacttgcgcatgtctINSggggggatgcgatgggacag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:46921056_46921057insG	uc001ndn.3	-	5	577	c.431_splice	c.e5-1	p.D144_splice	LRP4_uc009ylh.1_Splice_Site_p.D95_splice	NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein						endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		TGCGCATGTCTGGGGGGATGCG	0.599													G	46921057	-	G	46921056	8	5	131	1	0	1	1	0	0	0	1	0	8959	1594	55	0	5424	0	LRP4	11	46921056	Splice_Site	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	101393	46921056	88085460	1194	77369	369	2									
LRP4	4038	broad.mit.edu	37	chr11	46921057	46921058	+	Splice_Site	INS	-	-	G													ggagcacttgcgcatgtctgINSgggggatgcgatgggacagc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:46921056_46921057T>TG	uc001ndn.4	-	5	674	c.431_splice	c.e5-1	p.D144_splice	LRP4_uc009ylh.2_Splice_Site_p.D95_splice	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	144	LDL-receptor class A 3.				Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGCGCATGTCTGGGGGGATGCG	0.599													G	46921058	-	G	46921057	8	5	131	1	0	1	1	0	0	0	1	0	8959	1363	47	0		0	LRP4	11	46921057	Splice_Site	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	46921057	88085459	1195	77370	369	2									
MADD	8567	broad.mit.edu	37	chr11	47312287	47312287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttccacaactgggacctcGggcaccaagtgccacaggaa	11	13	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:47312287G>A	uc001ner.1	+	20	3472	c.3281G>A	c.(3280-3282)CGG>CAG	p.R1094Q	MADD_uc001neq.2_Missense_Mutation_p.R1074Q|MADD_uc001nev.1_Missense_Mutation_p.R1031Q|MADD_uc001nes.1_Missense_Mutation_p.R1051Q|MADD_uc001net.1_Missense_Mutation_p.R1094Q|MADD_uc009yln.1_Missense_Mutation_p.R1031Q|MADD_uc001neu.1_Missense_Mutation_p.R1031Q|MADD_uc001nex.2_Missense_Mutation_p.R1094Q|MADD_uc001nez.2_Missense_Mutation_p.R1031Q|MADD_uc001new.2_Missense_Mutation_p.R1074Q|MADD_uc009ylo.2_Missense_Mutation_p.R12Q	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	1094					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		CTGGGACCTCGGGCACCAAGT	0.498													A	47312287	G	A	47312287	3	1	131	1	0	0	0	0	1	0	0	0	9152	1116	39	1	3355	1	MADD	11	47312287	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	391230	47312287	87694229	1196	77371											
CELF1	10658	broad.mit.edu	37	chr11	47504307	47504307	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccccacacagatgctgcGctgatttgctgcatctgctg	9	13	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:47504307G>A	uc001nfl.2	-	6	637	c.627C>T	c.(625-627)AGC>AGT	p.S209S	CELF1_uc001nfm.2_Silent_p.S209S|CELF1_uc001nfn.2_Silent_p.S209S|CELF1_uc001nfo.1_Silent_p.S235S|CELF1_uc010rhm.1_Silent_p.S208S|CELF1_uc001nfp.2_Silent_p.S236S|CELF1_uc001nfq.1_Silent_p.S209S|CELF1_uc001nfr.1_Silent_p.S209S	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	CUG triplet repeat, RNA-binding protein 1	209					embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|ovary(1)	3						CAGATGCTGCGCTGATTTGCT	0.483													A	47504307	G	A	47504307	2	1	131	1	0	0	0	0	0	0	0	1	3215	1078	38	1		1	CELF1	11	47504307	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	192020	47504307	87502209	1197	77372											
C1QTNF4	114900	broad.mit.edu	37	chr11	47612294	47612294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgcagctcagaggatccCgggccgggggtcgggcccag	19	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:47612294C>T	uc001ngc.2	-	2	336	c.69G>A	c.(67-69)CCG>CCA	p.P23P		NM_031909	NP_114115	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	23						extracellular region					0						CAGAGGATCCCGGGCCGGGGG	0.721													T	47612294	C	T	47612294	2	4	131	1	0	0	0	0	0	0	0	1	1965	639	23	1		1	C1QTNF4	11	47612294	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	107987	47612294	87394222	1198	77373											
OR4C16	219428	broad.mit.edu	37	chr11	55339828	55339828	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttgcctctctacttccatAacccctagaatgattgtgga	6	12	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:55339828A>G	uc010rih.1	+	1	225	c.225A>G	c.(223-225)ATA>ATG	p.I75M		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	75	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)				CTACTTCCATAACCCCTAGAA	0.423													G	55339828	A	G	55339828	3	3	131	1	0	0	0	0	1	0	0	0	11049	352	13	3	227	3	OR4C16	11	55339828	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	7727534	55339828	79666688	1199	77374											
OR8J3	81168	broad.mit.edu	37	chr11	55904902	55904902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaccctcccagttgggtgGcacattcatagaatgaggta	11	9	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:55904902G>A	uc010riz.1	-	1	293	c.293C>T	c.(292-294)GCC>GTC	p.A98V		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	98	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					CAGTTGGGTGGCACATTCATA	0.433													A	55904902	G	A	55904902	3	1	131	1	0	0	0	0	1	0	0	0	11242	1203	42	2	656	2	OR8J3	11	55904902	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	565074	55904902	79101614	1200	77375											
OR8H1	219469	broad.mit.edu	37	chr11	56058538	56058538	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttatttcttctacccaTgatgttcaattgctttaaac	5	8	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:56058538T>C	uc010rje.1	-	1	1	c.1A>G	c.(1-3)ATG>GTG	p.M1V		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	1	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					CTTCTACCCATGATGTTCAAT	0.358													C	56058538	T	C	56058538	3	2	131	1	0	0	0	0	1	0	0	0	11237	1478	51	3	936	3	OR8H1	11	56058538	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	153636	56058538	78947978	1201	77376											
OR8J1	219477	broad.mit.edu	37	chr11	56128015	56128015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctcattctatgaatgtgCcacccaactgggagggttct	9	11	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:56128015C>T	uc010rjh.1	+	1	293	c.293C>T	c.(292-294)GCC>GTC	p.A98V		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	98	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TATGAATGTGCCACCCAACTG	0.418													T	56128015	C	T	56128015	3	4	131	1	0	0	0	0	1	0	0	0	11241	739	26	2	295	2	OR8J1	11	56128015	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	69477	56128015	78878501	1202	77377											
OR8J1	219477	broad.mit.edu	37	chr11	56128086	56128086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctttgatggcctatgacCgctatgtggctatttgtaac	11	8	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:56128086C>T	uc010rjh.1	+	1	364	c.364C>T	c.(364-366)CGC>TGC	p.R122C		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GGCCTATGACCGCTATGTGGC	0.493													T	56128086	C	T	56128086	3	4	131	1	0	0	0	0	1	0	0	0	11241	652	23	1	366	1	OR8J1	11	56128086	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	71	56128086	78878430	1203	77378											
OR5AR1	219493	broad.mit.edu	37	chr11	56431467	56431468	+	Frame_Shift_Ins	INS	-	-	T													gctgtgccacccagtttgctINSttttttgtaggttttgtgga							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:56431466_56431467C>CT	uc010rjm.2	+	0	305_306	c.305_306C>CT	c.(304-306)gctfs	p.A102fs	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						ACCCAGTTTGCTTTTTTTGTAG	0.51													T	56431468	-	T	56431467	7	5	131	1	0	1	1	0	0	0	0	0	11145	1596	56	0	308	0	OR5AR1	11	56431467	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	303381	56431467	78575049	1204	77379											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57070218	57070219	+	Frame_Shift_Ins	INS	-	-	T													actccctccgagccaccgccINSttggagctgctggctgccag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:57070218_57070219insT	uc001njr.2	-	6	4709_4710	c.4397_4398insA	c.(4396-4398)AAGfs	p.K1466fs	TNKS1BP1_uc001njp.2_Frame_Shift_Ins_p.K38fs|TNKS1BP1_uc001njq.2_Frame_Shift_Ins_p.K38fs|TNKS1BP1_uc001njs.2_Frame_Shift_Ins_p.K1466fs	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1466	Tankyrase-binding.|Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				GAGCCACCGCCTTGGAGCTGCT	0.713													T	57070219	-	T	57070218	7	5	131	1	0	1	1	0	0	0	0	0	16317	680	24	0	811	0	TNKS1BP1	11	57070218	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	638751	57070218	77936298	1205	77380											
OR9Q1	219956	broad.mit.edu	37	chr11	57947085	57947085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggatcaccagctccacGctccaatgtatttccttctg	6	14	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:57947085G>A	uc001nmj.2	+	3	485	c.169G>A	c.(169-171)GCT>ACT	p.A57T		NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q,	57	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.222)				CCAGCTCCACGCTCCAATGTA	0.488													A	57947085	G	A	57947085	3	1	131	1	0	0	0	0	1	0	0	0	11255	1087	38	1	171	1	OR9Q1	11	57947085	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	876867	57947085	77059431	1206	77381											
OR5B12	390191	broad.mit.edu	37	chr11	58207126	58207128	+	In_Frame_Del	DEL	AGA	AGA	-													ttcaactacattggatctacAgaaggagagcctgaaagtgt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:58207126_58207128delAGA	uc010rkh.1	-	1	497_499	c.497_499delTCT	c.(496-501)TTCTGT>TGT	p.F166del		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B,	166	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTGGATCTACAGAAGGAGAGCCT	0.424													-	58207128	AGA	-	58207126	7	5	131	1	0	1	0	1	0	0	0	0	11148	188	7	0	449	0	OR5B12	11	58207126	In_Frame_Del	DEL	AGA	TCGA-BR-A4QL-01A-31D-A25D-08	260041	58207126	76799390	1207	77382											
MS4A14	84689	broad.mit.edu	37	chr11	60183894	60183894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagaagaaaatcctcaagaCggcattccttaaaccagcaa	6	10	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:60183894C>T	uc001npj.2	+	5	2018	c.1453C>T	c.(1453-1455)CGG>TGG	p.R485W	MS4A14_uc001npi.2_Missense_Mutation_p.R373W|MS4A14_uc001npn.2_Missense_Mutation_p.R223W|MS4A14_uc001npk.2_Missense_Mutation_p.R468W|MS4A14_uc001npl.2_Missense_Mutation_p.R223W|MS4A14_uc001npm.2_Missense_Mutation_p.R223W	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	485	Gln-rich.					integral to membrane	receptor activity			breast(1)	1						ATCCTCAAGACGGCATTCCTT	0.388													T	60183894	C	T	60183894	3	4	131	1	0	0	0	0	1	0	0	0	9858	527	19	1	1471	1	MS4A14	11	60183894	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1976768	60183894	74822622	1208	77383											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62490153	62490153	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttctgccttgagtcctcGtccatcgaaaccgtaagaga	8	11	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:62490153G>A	uc001nuw.2	-	6	1208	c.1015C>T	c.(1015-1017)CGA>TGA	p.R339*	HNRNPUL2_uc001nuu.1_RNA	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like	339	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding				0						TTGAGTCCTCGTCCATCGAAA	0.418													A	62490153	G	A	62490153	4	1	131	1	0	0	0	0	0	1	0	0	7275	1153	40	1	1264	1	HNRNPUL2	11	62490153	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2306259	62490153	72516363	1209	77384											
ZBTB3	79842	broad.mit.edu	37	chr11	62519825	62519825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaccgtggcatgtcgccGtagtgtgtaagagcatgaga	15	8	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:62519825G>A	uc001nuz.2	-	2	1584	c.1462C>T	c.(1462-1464)CGG>TGG	p.R488W		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	488	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3						GCATGTCGCCGTAGTGTGTAA	0.562													A	62519825	G	A	62519825	3	1	131	1	0	0	0	0	1	0	0	0	17531	1144	40	1	266	1	ZBTB3	11	62519825	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	29672	62519825	72486691	1210	77385											
ATL3	25923	broad.mit.edu	37	chr11	63420050	63420050	+	Splice_Site	DEL	A	A	-													catcagaacaactgcaacctAaaaaaaaggaaaatacaaac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:63420049_63420049TA>T	uc001nxk.1	-	4	682	c.406_splice	c.e4-1	p.V136_splice	ATL3_uc010rms.1_Splice_Site_p.V118_splice	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	Homo sapiens atlastin GTPase 3 (ATL3), mRNA.	136					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AACTGCAACCTAAAAAAAAGG	0.373													-	63420050	A	-	63420050	8	5	131	1	0	1	0	1	0	0	1	0	1108	377	13	0		0	ATL3	11	63420050	Splice_Site	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	900225	63420050	71586466	1211	77386											
FERMT3	83706	broad.mit.edu	37	chr11	63990891	63990891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacattttcctgtcgacgcGggagcgggcccgtggggagg	17	11	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:63990891G>A	uc001nyl.2	+	15	2080	c.1931G>A	c.(1930-1932)CGG>CAG	p.R644Q	FERMT3_uc001nym.2_Missense_Mutation_p.R640Q|NUDT22_uc009ypd.2_5'Flank|NUDT22_uc001nyp.3_5'Flank|NUDT22_uc009ype.2_5'Flank|NUDT22_uc001nyq.3_5'Flank	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	fermitin family homolog 3 long form	644					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			ovary(1)	1						CTGTCGACGCGGGAGCGGGCC	0.592													A	63990891	G	A	63990891	3	1	131	1	0	0	0	0	1	0	0	0	5819	1116	39	1	1985	1	FERMT3	11	63990891	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	570841	63990891	71015625	1212	77387											
CCDC88B	283234	broad.mit.edu	37	chr11	64112079	64112079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccagaggctggaagggaCggtcagggacccagcctggc	17	11	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:64112079C>T	uc001nzy.2	+	14	2110	c.2066C>T	c.(2065-2067)ACG>ATG	p.T689M	CCDC88B_uc009ypo.1_Missense_Mutation_p.T686M|CCDC88B_uc001nzz.1_Missense_Mutation_p.T338M	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88	689					microtubule cytoskeleton organization	cytoplasm	microtubule binding			ovary(3)|skin(1)	4						CTGGAAGGGACGGTCAGGGAC	0.637													T	64112079	C	T	64112079	3	4	131	1	0	0	0	0	1	0	0	0	2864	536	19	1	2120	1	CCDC88B	11	64112079	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	121188	64112079	70894437	1213	77388											
NRXN2	9379	broad.mit.edu	37	chr11	64375286	64375286	+	Frame_Shift_Del	DEL	G	G	-													taaaagtcctcgtcgtccgtGggggggaggctggagtcaaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:64375286delG	uc001oap.2	-	8	1894	c.1383delC	c.(1381-1383)CCCfs	p.P461fs	NRXN2_uc001oar.2_Frame_Shift_Del_p.P1507fs|NRXN2_uc001oas.2_Frame_Shift_Del_p.P1437fs|NRXN2_uc001oao.2_Frame_Shift_Del_p.P147fs|NRXN2_uc001oaq.2_Frame_Shift_Del_p.P1174fs	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	461	Extracellular (Potential).				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						CGTCGTCCGTGGGGGGGAGGC	0.697													-	64375286	G	-	64375286	7	5	131	1	0	1	0	1	0	0	0	0	10666	1335	47	0	621	0	NRXN2	11	64375286	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	263207	64375286	70631230	1214	77389											
NRXN2	9379	broad.mit.edu	37	chr11	64390500	64390500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggggcggccctgatcccGgcccccgatcttgatggcag	15	14	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:64390500G>A	uc001oap.2	-	6	1271	c.760C>T	c.(760-762)CGG>TGG	p.R254W	NRXN2_uc001oar.2_Missense_Mutation_p.R1300W|NRXN2_uc001oas.2_Missense_Mutation_p.R1230W|NRXN2_uc001oao.2_5'UTR|NRXN2_uc001oaq.2_Missense_Mutation_p.R967W	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	254	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						CCCTGATCCCGGCCCCCGATC	0.522													A	64390500	G	A	64390500	3	1	131	1	0	0	0	0	1	0	0	0	10666	1115	39	1	1252	1	NRXN2	11	64390500	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	15214	64390500	70616016	1215	77390											
MEN1	4221	broad.mit.edu	37	chr11	64573118	64573118	+	Frame_Shift_Del	DEL	C	C	-													gcctttcacctggctttgctCccccggccgctcctcgcccg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:64573118delC	uc001obj.2	-	8	1262	c.1189delG	c.(1189-1191)GAGfs	p.E397fs	MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Frame_Shift_Del_p.E397fs|MEN1_uc001obl.2_Frame_Shift_Del_p.E357fs|MEN1_uc001obm.2_Frame_Shift_Del_p.E392fs|MEN1_uc001obn.2_Frame_Shift_Del_p.E397fs|MEN1_uc001obo.2_Frame_Shift_Del_p.E397fs|MEN1_uc001obp.2_Frame_Shift_Del_p.E392fs|MEN1_uc001obq.2_Frame_Shift_Del_p.E397fs|MEN1_uc001obr.2_Frame_Shift_Del_p.E397fs	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	397					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						TGGCTTTGCTCCCCCGGCCGC	0.612			D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1				-	64573118	C	-	64573118	7	5	131	1	0	1	0	1	0	0	0	0	9472	864	30	0	670	0	MEN1	11	64573118	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	182618	64573118	70433398	1216	77391											
CDC42BPG	55561	broad.mit.edu	37	chr11	64597667	64597667	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagctttgataggtaccGttgctgcgcagatggatgac	13	10	0	3	rs142016620		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:64597667G>A	uc001obs.3	-	29	3366	c.3366C>T	c.(3364-3366)AAC>AAT	p.N1122N		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1122	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						GATAGGTACCGTTGCTGCGCA	0.493													A	64597667	G	A	64597667	2	1	131	1	0	0	0	0	0	0	0	1	3074	1159	40	1		1	CDC42BPG	11	64597667	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	24549	64597667	70408849	1217	77392											
SAC3D1	29901	broad.mit.edu	37	chr11	64812092	64812092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagggctaccgcctgccagtAcgtgcaaggtgttagtggag	15	9	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:64812092A>G	uc001ocm.2	+	2	1359	c.970A>G	c.(970-972)ACG>GCG	p.T324A	SAC3D1_uc010rnv.1_Missense_Mutation_p.T311A	NM_013299	NP_037431			SAC3 domain containing 1												0						GCCTGCCAGTACGTGCAAGGT	0.627													G	64812092	A	G	64812092	3	3	131	1	0	0	0	0	1	0	0	0	13802	391	14	3	976	3	SAC3D1	11	64812092	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	214425	64812092	70194424	1218	77393											
SYVN1	84447	broad.mit.edu	37	chr11	64897648	64897648	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgggccgagaaagggctgCtgaagagcaggaacgaagtc	16	8	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:64897648C>T	uc001odb.2	-	13	1329	c.1235_splice	c.e13-1	p.A412_splice	SYVN1_uc001odc.2_Intron|SYVN1_uc009yqc.2_Intron	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	synoviolin 1 isoform b						ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(1)	1						GAAAGGGCTGCTGAAGAGCAG	0.612													T	64897648	C	T	64897648	5	4	131	1	0	0	0	0	0	0	1	0	15484	811	28	2	635	2	SYVN1	11	64897648	Splice_Site	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	85556	64897648	70108868	1219	77394											
EHBP1L1	254102	broad.mit.edu	37	chr11	65350743	65350743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgagtactgatgacccGtaagacagaaattatagttc	10	9	0	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:65350743G>A	uc001oeo.3	+	9	2865	c.2600G>A	c.(2599-2601)CGT>CAT	p.R867H	EHBP1L1_uc001oep.1_Intron	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	867	Glu-rich.									central_nervous_system(1)	1						CTGATGACCCGTAAGACAGAA	0.557													A	65350743	G	A	65350743	3	1	131	1	0	0	0	0	1	0	0	0	4976	1145	40	1	2634	1	EHBP1L1	11	65350743	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	453095	65350743	69655773	1220	77395											
SIPA1	6494	broad.mit.edu	37	chr11	65417119	65417119	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagccatcagtacccagtgcTgacagtgagacacccctgac	9	14	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:65417119T>C	uc001ofb.2	+	11	2780	c.2613T>C	c.(2611-2613)GCT>GCC	p.A871A	SIPA1_uc010rom.1_Silent_p.A769A|SIPA1_uc001ofd.2_Silent_p.A871A	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	871					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity				0						TACCCAGTGCTGACAGTGAGA	0.607													C	65417119	T	C	65417119	2	2	131	1	0	0	0	0	0	0	0	1	14328	1567	55	3		3	SIPA1	11	65417119	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	66376	65417119	69589397	1221	77396											
CST6	1474	broad.mit.edu	37	chr11	65779667	65779667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacccgcaggtgcagaaggCggcgcaggcggccgtggcca	18	14	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:65779667C>T	uc001ogr.2	+	1	206	c.152C>T	c.(151-153)GCG>GTG	p.A51V	CST6_uc001ogq.1_RNA|CST6_uc001ogs.1_5'Flank	NM_001323	NP_001314	Q15828	CYTM_HUMAN	cystatin M precursor	51					anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1						GTGCAGAAGGCGGCGCAGGCG	0.701													T	65779667	C	T	65779667	3	4	131	1	0	0	0	0	1	0	0	0	3976	768	27	1	154	1	CST6	11	65779667	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	362548	65779667	69226849	1222	77397											
CD248	57124	broad.mit.edu	37	chr11	66084119	66084119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccacacagcgctgggccGggcaggggcctccagaggct	18	14	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:66084119G>A	uc001ohm.1	-	1	397	c.380C>T	c.(379-381)CCG>CTG	p.P127L		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	127	C-type lectin.|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	GCGCTGGGCCGGGCAGGGGCC	0.697													A	66084119	G	A	66084119	3	1	131	1	0	0	0	0	1	0	0	0	2989	1116	39	1	1897	1	CD248	11	66084119	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	304452	66084119	68922397	1223	77398											
SPTBN2	6712	broad.mit.edu	37	chr11	66458926	66458926	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcagctcgtacgccgcGgccagcacctgaccccgtgt	12	18	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:66458926G>A	uc001ojd.2	-	26	5466	c.5394C>T	c.(5392-5394)GCC>GCT	p.A1798A		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1798	Spectrin 14.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CGTACGCCGCGGCCAGCACCT	0.701													A	66458926	G	A	66458926	2	1	131	1	0	0	0	0	0	0	0	1	15119	1103	39	1		1	SPTBN2	11	66458926	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	374807	66458926	68547590	1224	77399											
PC	5091	broad.mit.edu	37	chr11	66639172	66639172	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcaccttggccaccttgaTgatgtctgggatgtgcaggt	13	10	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:66639172T>C	uc001ojn.1	-	3	356	c.307A>G	c.(307-309)ATC>GTC	p.I103V	PC_uc001ojo.1_Missense_Mutation_p.I103V|PC_uc001ojp.1_Missense_Mutation_p.I103V	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	103	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GCCACCTTGATGATGTCTGGG	0.652													C	66639172	T	C	66639172	3	2	131	1	0	0	0	0	1	0	0	0	11497	1464	51	3	3305	3	PC	11	66639172	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	180246	66639172	68367344	1225	77400											
RHOD	29984	broad.mit.edu	37	chr11	66838982	66838982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccatgacaacgtccacgCcgtcttccaggaggccgccg	11	17	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:66838982C>T	uc001ojv.2	+	5	627	c.542C>T	c.(541-543)GCC>GTC	p.A181V		NM_014578	NP_055393	O00212	RHOD_HUMAN	ras homolog D precursor	181					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0						AACGTCCACGCCGTCTTCCAG	0.687													T	66838982	C	T	66838982	3	4	131	1	0	0	0	0	1	0	0	0	13337	739	26	2	560	2	RHOD	11	66838982	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	199810	66838982	68167534	1226	77401											
CABP4	57010	broad.mit.edu	37	chr11	67225916	67225916	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctctgctcggggagccGctggcgggtcctgagctgga	18	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:67225916G>A	uc001olo.2	+	5	803	c.726G>A	c.(724-726)CCG>CCA	p.P242P	CABP4_uc001oln.2_Silent_p.P137P	NM_145200	NP_660201	P57796	CABP4_HUMAN	calcium binding protein 4	242					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TCGGGGAGCCGCTGGCGGGTC	0.632													A	67225916	G	A	67225916	2	1	131	1	0	0	0	0	0	0	0	1	2533	1074	38	1		1	CABP4	11	67225916	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	386934	67225916	67780600	1227	77402											
TBX10	347853	broad.mit.edu	37	chr11	67400555	67400555	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacggggctggtagcggTgcatagagttgagaatgatc	17	5	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:67400555T>C	uc001omp.2	-	5	657	c.569A>G	c.(568-570)CAC>CGC	p.H190R		NM_005995	NP_005986	O75333	TBX10_HUMAN	T-box 10	190	T-box.				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						CTGGTAGCGGTGCATAGAGTT	0.582													C	67400555	T	C	67400555	3	2	131	1	0	0	0	0	1	0	0	0	15648	1696	59	3	604	3	TBX10	11	67400555	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	174639	67400555	67605961	1228	77403											
TBX10	347853	broad.mit.edu	37	chr11	67402373	67402373	+	Frame_Shift_Del	DEL	G	G	-													cccaggatcttcacctggaaGggggggaacatcctcctgcg					rs144542807		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:67402373delG	uc001omp.2	-	3	379	c.291delC	c.(289-291)CCCfs	p.P97fs		NM_005995	NP_005986	O75333	TBX10_HUMAN	T-box 10	97	T-box.				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						TCACCTGGAAGGGGGGGAACA	0.677													-	67402373	G	-	67402373	7	5	131	1	0	1	0	1	0	0	0	0	15648	987	35	0	890	0	TBX10	11	67402373	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	1818	67402373	67604143	1229	77404											
SUV420H1	51111	broad.mit.edu	37	chr11	67934466	67934466	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacttgcattgtttttttccTgagtggtatctgcatcagtg	9	7	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:67934466T>C	uc001onm.1	-	10	1413	c.1157A>G	c.(1156-1158)CAG>CGG	p.Q386R	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Missense_Mutation_p.Q214R|SUV420H1_uc009ysf.2_Missense_Mutation_p.Q146R|SUV420H1_uc001ono.1_Missense_Mutation_p.Q386R|SUV420H1_uc001onp.2_Missense_Mutation_p.Q386R|SUV420H1_uc010rqa.1_Missense_Mutation_p.Q363R|SUV420H1_uc001onq.2_Missense_Mutation_p.Q386R	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						GTTTTTTTCCTGAGTGGTATC	0.328													C	67934466	T	C	67934466	3	2	131	1	0	0	0	0	1	0	0	0	15411	1580	55	3	1516	3	SUV420H1	11	67934466	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	532093	67934466	67072050	1230	77405											
LRP5	4041	broad.mit.edu	37	chr11	68153968	68153968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgggccatccgcagggcGtacctggacgggtctggggc	19	12	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:68153968G>A	uc001ont.2	+	6	1275	c.1200G>A	c.(1198-1200)GCG>GCA	p.A400A	LRP5_uc009ysg.2_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	400	LDL-receptor class B 6.|Beta-propeller 2.|Extracellular (Potential).		A -> E (in OPPG).		adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						TCCGCAGGGCGTACCTGGACG	0.642													A	68153968	G	A	68153968	2	1	131	1	0	0	0	0	0	0	0	1	8960	1132	40	1		1	LRP5	11	68153968	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	219502	68153968	66852548	1231	77406											
LRP5	4041	broad.mit.edu	37	chr11	68204455	68204455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgtatcgacggctccgacGagctcatgtgtggtgagcca	13	11	1	1	rs28939709		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:68204455G>A	uc001ont.2	+	19	4174	c.4099G>A	c.(4099-4101)GAG>AAG	p.E1367K	LRP5_uc009ysg.2_Missense_Mutation_p.E777K	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1367	LDL-receptor class A 3.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CGGCTCCGACGAGCTCATGTG	0.632													A	68204455	G	A	68204455	3	1	131	1	0	0	0	0	1	0	0	0	8960	1059	37	1	4173	1	LRP5	11	68204455	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	50487	68204455	66802061	1232	77407											
MTL5	9633	broad.mit.edu	37	chr11	68506209	68506209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcctggaagagttgatccCgaggggaaagcagacccgtt	15	9	0	3	rs138790602	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:68506209C>T	uc001ooc.2	-	6	1016	c.876G>A	c.(874-876)TCG>TCA	p.S292S	MTL5_uc001ood.1_Silent_p.S292S|MTL5_uc009ysi.1_3'UTR	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific isoform	292					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			ovary(2)|breast(1)	3	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GAGTTGATCCCGAGGGGAAAG	0.403													T	68506209	C	T	68506209	2	4	131	1	0	0	0	0	0	0	0	1	9936	639	23	1		1	MTL5	11	68506209	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	301754	68506209	66500307	1233	77408											
PPFIA1	8500	broad.mit.edu	37	chr11	70200480	70200480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctccccgccttcctcccCgagagcccttcggttagacc	7	20	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:70200480C>T	uc001opo.2	+	17	2435	c.2237C>T	c.(2236-2238)CCG>CTG	p.P746L	PPFIA1_uc001opn.1_Missense_Mutation_p.P746L|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	746					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CCTTCCTCCCCGAGAGCCCTT	0.567													T	70200480	C	T	70200480	3	4	131	1	0	0	0	0	1	0	0	0	12309	652	23	1	2299	1	PPFIA1	11	70200480	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1694271	70200480	64806036	1234	77409											
KRTAP5-10	387273	broad.mit.edu	37	chr11	71277026	71277026	+	Frame_Shift_Del	DEL	G	G	-													ggttcctgtgggggctccaaGgggggctgtggttcttgtgg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:71277026delG	uc001oqt.1	+	1	418	c.393delG	c.(391-393)AAGfs	p.K131fs		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	131	7 X 4 AA repeats of C-C-X-P.					keratin filament				skin(1)	1						GGGGCTCCAAGGGGGGCTGTG	0.483													-	71277026	G	-	71277026	7	5	131	1	0	1	0	1	0	0	0	0	8559	991	35	0	395	0	KRTAP5-10	11	71277026	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	1076546	71277026	63729490	1235	77410											
ARAP1	116985	broad.mit.edu	37	chr11	72423533	72423533	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcctcatccccttggtcGtccccagacagttcctctcc	5	19	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:72423533G>A	uc001osu.2	-	6	1017	c.828C>T	c.(826-828)GAC>GAT	p.D276D	ARAP1_uc001osv.2_Silent_p.D276D|ARAP1_uc001osr.2_Silent_p.D36D|ARAP1_uc001oss.2_Silent_p.D31D|ARAP1_uc009yth.2_Silent_p.D31D|ARAP1_uc010rre.1_Silent_p.D31D	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	276					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						CCCCTTGGTCGTCCCCAGACA	0.682													A	72423533	G	A	72423533	2	1	131	1	0	0	0	0	0	0	0	1	838	1136	40	1		1	ARAP1	11	72423533	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1146507	72423533	62582983	1236	77411											
P2RY2	5029	broad.mit.edu	37	chr11	72946018	72946018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccctctactactccttcCgctcgctggacctcagctgc	7	19	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:72946018C>T	uc001otj.2	+	3	1147	c.814C>T	c.(814-816)CGC>TGC	p.R272C	P2RY2_uc001otk.2_Missense_Mutation_p.R272C|P2RY2_uc001otl.2_Missense_Mutation_p.R272C	NM_002564	NP_002555	P41231	P2RY2_HUMAN	purinergic receptor P2Y2	272	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(1)|skin(1)	4					Suramin(DB04786)	CTACTCCTTCCGCTCGCTGGA	0.632													T	72946018	C	T	72946018	3	4	131	1	0	0	0	0	1	0	0	0	11352	652	23	1	816	1	P2RY2	11	72946018	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	522485	72946018	62060498	1237	77412											
PPME1	51400	broad.mit.edu	37	chr11	73950295	73950295	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaggaaaaaggaagatgaCatggaggtgggtaaaaacat	14	2	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:73950295C>T	uc001ouw.2	+	9	927	c.828C>T	c.(826-828)GAC>GAT	p.D276D	PPME1_uc009yty.2_Silent_p.D146D|PPME1_uc001oux.2_Silent_p.D89D	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	276					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity				0	Breast(11;3.29e-05)					AGGAAGATGACATGGAGGTGG	0.403													T	73950295	C	T	73950295	2	4	131	1	0	0	0	0	0	0	0	1	12347	477	17	4		4	PPME1	11	73950295	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1004277	73950295	61056221	1238	77413											
POLD3	10714	broad.mit.edu	37	chr11	74331113	74331113	+	Frame_Shift_Del	DEL	T	T	-													aagggaatatgatgagcaacTtttttggaaaagctgctatg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:74331112_74331112CT>C	uc001ovf.1	+	6	786	c.711_711CT>C	c.(709-711)aacfs	p.N237fs	POLD3_uc009yua.1_Frame_Shift_Del_p.N131fs	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	Homo sapiens polymerase (DNA-directed), delta 3, accessory subunit (POLD3), mRNA.	237					DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair|mismatch repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					TGATGAGCAACTTTTTTGGAA	0.398													-	74331113	T	-	74331113	7	5	131	1	0	1	0	1	0	0	0	0	12192	1609	56	0	738	0	POLD3	11	74331113	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	380818	74331113	60675403	1239	77414											
XRRA1	143570	broad.mit.edu	37	chr11	74638466	74638466	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaaagtctccatatttcacGtagatagttttgatgccatt	6	7	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:74638466G>A	uc009yub.2	-	7	800	c.468C>T	c.(466-468)TAC>TAT	p.Y156Y	XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovo.2_Intron|XRRA1_uc001ovq.3_Silent_p.Y156Y|XRRA1_uc001ovp.3_Translation_Start_Site|XRRA1_uc001ovr.2_Translation_Start_Site	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	156					response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1						CATATTTCACGTAGATAGTTT	0.433													A	74638466	G	A	74638466	2	1	131	1	0	0	0	0	0	0	0	1	17458	1140	40	1		1	XRRA1	11	74638466	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	307353	74638466	60368050	1240	77415											
ARRB1	408	broad.mit.edu	37	chr11	74994515	74994515	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catagcggaaggcgcaggtcAgcgtcacatagactgtgggg	16	9	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:74994515A>G	uc001owe.1	-	5	392	c.170T>C	c.(169-171)CTG>CCG	p.L57P	ARRB1_uc001owf.1_Missense_Mutation_p.L57P	NM_004041	NP_004032	P49407	ARRB1_HUMAN	arrestin beta 1 isoform A	57	Interaction with CHRM2 (By similarity).|Interaction with SRC (By similarity).				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(2)	2						GGCGCAGGTCAGCGTCACATA	0.672													G	74994515	A	G	74994515	3	3	131	1	0	0	0	0	1	0	0	0	980	188	7	3	1134	3	ARRB1	11	74994515	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	356049	74994515	60012001	1241	77416											
MAP6	4135	broad.mit.edu	37	chr11	75298331	75298331	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggttcagggactatacgacCttgattctttggaggctgta	12	7	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:75298331C>A	uc001owu.2	-	4	2280	c.2215G>T	c.(2215-2217)GGT>TGT	p.G739C		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6 isoform 1	739	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding				0	Ovarian(111;0.11)					ACTATACGACCTTGATTCTTT	0.512													A	75298331	C	A	75298331	3	1	131	1	0	0	0	0	1	0	0	0	9264	681	24	5	230	5	MAP6	11	75298331	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	303816	75298331	59708185	1242	77417											
OMP	4975	broad.mit.edu	37	chr11	76814175	76814175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaccaacctcatgacacGccagctgctggaccccactg	7	19	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:76814175G>A	uc010rsk.1	+	1	290	c.290G>A	c.(289-291)CGC>CAC	p.R97H	CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron	NM_006189	NP_006180	P47874	OMP_HUMAN	olfactory marker protein	97					sensory perception of smell|synaptic transmission						0						CTCATGACACGCCAGCTGCTG	0.617													A	76814175	G	A	76814175	3	1	131	1	0	0	0	0	1	0	0	0	10867	1087	38	1	292	1	OMP	11	76814175	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1515844	76814175	58192341	1243	77418											
ME3	10873	broad.mit.edu	37	chr11	86209065	86209065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcgggttcacccctccGcatgccgtgtacagggccag	13	15	1	0	rs149425348	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:86209065G>A	uc001pbz.2	-	5	899	c.645C>T	c.(643-645)TGC>TGT	p.C215C	ME3_uc001pca.2_Silent_p.C215C|ME3_uc009yvk.2_Silent_p.C215C|ME3_uc010rtr.1_RNA	NM_001014811	NP_001014811	Q16798	MAON_HUMAN	mitochondrial malic enzyme 3 precursor	215					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			ovary(1)	1		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	TCACCCCTCCGCATGCCGTGT	0.662													A	86209065	G	A	86209065	2	1	131	1	0	0	0	0	0	0	0	1	9419	1079	38	1		1	ME3	11	86209065	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	9394890	86209065	48797451	1244	77419											
CTSC	1075	broad.mit.edu	37	chr11	88068128	88068128	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaggcaaaccacttgtAgtcattcaacacaatctcaa	4	10	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:88068128A>G	uc001pck.3	-	2	396	c.295T>C	c.(295-297)TAC>CAC	p.Y99H	CTSC_uc001pcl.3_5'UTR|CTSC_uc001pcm.3_Missense_Mutation_p.Y99H|CTSC_uc001pcn.3_Missense_Mutation_p.Y99H	NM_001814	NP_001805	P53634	CATC_HUMAN	cathepsin C isoform a preproprotein	99					immune response	lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AACCACTTGTAGTCATTCAAC	0.383													G	88068128	A	G	88068128	3	3	131	1	0	0	0	0	1	0	0	0	4031	420	15	3	1251	3	CTSC	11	88068128	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1859063	88068128	46938388	1245	77420											
FAT3	120114	broad.mit.edu	37	chr11	92507279	92507279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgcaaaacctttggatgCagagcagaggtccatctata	9	10	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:92507279C>T	uc001pdj.3	+	6	4285	c.4268C>T	c.(4267-4269)GCA>GTA	p.A1423V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1423	Cadherin 13.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTTTGGATGCAGAGCAGAGG	0.423										TCGA Ovarian(4;0.039)			T	92507279	C	T	92507279	3	4	131	1	0	0	0	0	1	0	0	0	5691	710	25	2	4290	2	FAT3	11	92507279	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4439151	92507279	42499237	1246	77421											
FAT3	120114	broad.mit.edu	37	chr11	92533807	92533807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caatgactttgccaaggatcGattcctcatagacagcaatg	8	10	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:92533807G>A	uc001pdj.3	+	9	7645	c.7628G>A	c.(7627-7629)CGA>CAA	p.R2543Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2543	Cadherin 23.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCCAAGGATCGATTCCTCATA	0.483										TCGA Ovarian(4;0.039)			A	92533807	G	A	92533807	3	1	131	1	0	0	0	0	1	0	0	0	5691	1058	37	1	7662	1	FAT3	11	92533807	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	26528	92533807	42472709	1247	77422											
FUT4	2526	broad.mit.edu	37	chr11	94278208	94278208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgagtcgccctcgcactcCccggggctgcgaagcctggc	13	17	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:94278208C>T	uc001pez.2	+	1	1192	c.909C>T	c.(907-909)TCC>TCT	p.S303S	PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.1_5'Flank	NM_002033	NP_002024	P22083	FUT4_HUMAN	fucosyltransferase 4	303	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			skin(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCTCGCACTCCCCGGGGCTGC	0.662													T	94278208	C	T	94278208	2	4	131	1	0	0	0	0	0	0	0	1	6106	610	22	4		4	FUT4	11	94278208	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1744401	94278208	40728308	1248	77423											
PGR	5241	broad.mit.edu	37	chr11	100933308	100933308	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatagatcacatctggttcAatgctcattaacaggttgat	8	8	4	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:100933308A>G	uc001pgh.2	-	4	2825	c.2082T>C	c.(2080-2082)ATT>ATC	p.I694I	PGR_uc001pgg.2_Silent_p.I75I|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	694	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CATCTGGTTCAATGCTCATTA	0.438													G	100933308	A	G	100933308	2	3	131	1	0	0	0	0	0	0	0	1	11805	126	5	3		3	PGR	11	100933308	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	6655100	100933308	34073208	1249	77424											
PGR	5241	broad.mit.edu	37	chr11	100998809	100998809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctggcagccccggccccGccgtcgtaactttcgtcttc	11	18	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:100998809G>A	uc001pgh.2	-	1	1736	c.993C>T	c.(991-993)GGC>GGT	p.G331G	PGR_uc001pgi.2_Silent_p.G331G|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	331	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CCCCGGCCCCGCCGTCGTAAC	0.662													A	100998809	G	A	100998809	2	1	131	1	0	0	0	0	0	0	0	1	11805	1074	38	1		1	PGR	11	100998809	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	65501	100998809	34007707	1250	77425											
PGR	5241	broad.mit.edu	37	chr11	100999101	100999101	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcccttcagaagcggaCccgcagactcctcggactca	10	15	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:100999101C>A	uc001pgh.2	-	1	1444	c.701G>T	c.(700-702)GGT>GTT	p.G234V	PGR_uc001pgi.2_Missense_Mutation_p.G234V|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	234	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CAGAAGCGGACCCGCAGACTC	0.726													A	100999101	C	A	100999101	3	1	131	1	0	0	0	0	1	0	0	0	11805	507	18	5	2132	5	PGR	11	100999101	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	292	100999101	34007415	1251	77426											
MMP10	4319	broad.mit.edu	37	chr11	102647146	102647146	+	Frame_Shift_Del	DEL	G	G	-													ggggttcctcagtagaggcaGggggaggtcctaaaggaaac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:102647146delG	uc001phg.1	-	6	819	c.797delC	c.(796-798)CCTfs	p.P266fs		NM_002425	NP_002416	P09238	MMP10_HUMAN	matrix metalloproteinase 10 preproprotein	266					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		AGTAGAGGCAGGGGGAGGTCC	0.463													-	102647146	G	-	102647146	7	5	131	1	0	1	0	1	0	0	0	0	9649	1000	35	0	653	0	MMP10	11	102647146	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	1648045	102647146	32359370	1252	77427											
C11orf87	399947	broad.mit.edu	37	chr11	109294696	109294696	+	Frame_Shift_Del	DEL	G	G	-													gcagcggcagccgcggtggcGgggggctgccccgacctggc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:109294696delG	uc001pkn.2	+	2	711	c.337delG	c.(337-339)GGGfs	p.G113fs	C11orf87_uc010rwb.1_5'Flank	NM_207645	NP_997528	Q6NUJ2	CK087_HUMAN	hypothetical protein LOC399947 precursor	113	Cytoplasmic (Potential).					integral to membrane				ovary(2)	2						CCGCGGTGGCGGGGGGCTGCC	0.657													-	109294696	G	-	109294696	7	5	131	1	0	1	0	1	0	0	0	0	1669	1116	39	0	339	0	C11orf87	11	109294696	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	6647550	109294696	25711820	1253	77428											
RDX	5962	broad.mit.edu	37	chr11	110128524	110128524	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcataaatattcagacccaaAgcatcaacacctagccacaa	3	13	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:110128524A>C	uc001pku.2	-	7	976	c.666T>G	c.(664-666)GCT>GCG	p.A222A	RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Silent_p.A222A|RDX_uc009yxz.2_Intron|RDX_uc009yya.2_Intron|RDX_uc010rwe.1_Silent_p.A86A	NM_002906	NP_002897	P35241	RADI_HUMAN	radixin	222	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding				0		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TCAGACCCAAAGCATCAACAC	0.338													C	110128524	A	C	110128524	2	2	131	1	0	0	0	0	0	0	0	1	13198	59	3	5		5	RDX	11	110128524	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	833828	110128524	24877992	1254	77429											
C11orf57	55216	broad.mit.edu	37	chr11	111953459	111953460	+	Frame_Shift_Ins	INS	-	-	A													aatccaggaaaaagtctctcINSaaaaaacctgctttattctt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:111953459_111953460insA	uc001pmr.3	+	6	1323_1324	c.642_643insA	c.(640-645)CTCAAAfs	p.L214fs	C11orf57_uc001pmw.3_Frame_Shift_Ins_p.L215fs|C11orf57_uc001pmt.3_Frame_Shift_Ins_p.L215fs|C11orf57_uc001pmv.3_Frame_Shift_Ins_p.L214fs|C11orf57_uc001pms.3_Frame_Shift_Ins_p.L186fs	NM_001082970	NP_001076439	Q6ZUT1	CK057_HUMAN	hypothetical protein LOC55216 isoform b	214_215	Lys-rich.									breast(2)|ovary(1)	3		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AAAAGTCTCTCAAAAAACCTGC	0.411													A	111953460	-	A	111953459	7	5	131	1	0	1	1	0	0	0	0	0	1650	813	29	0	663	0	C11orf57	11	111953459	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1824935	111953459	23053057	1255	77430	370	2									
C11orf57	55216	broad.mit.edu	37	chr11	111953460	111953461	+	Frame_Shift_Ins	INS	-	-	A													atccaggaaaaagtctctcaINSaaaaacctgctttattctta							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:111953459_111953460C>CA	uc001pmw.4	+	5	768_769	c.645_646C>CA	c.(643-648)ctcaaafs	p.L215fs	C11orf57_uc001pmr.4_Frame_Shift_Ins_p.L214fs|C11orf57_uc001pmt.4_Frame_Shift_Ins_p.L215fs|C11orf57_uc001pmv.4_Frame_Shift_Ins_p.L214fs|C11orf57_uc001pms.4_Frame_Shift_Ins_p.L186fs	NM_001082969	NP_060665	Q6ZUT1	CK057_HUMAN	Homo sapiens chromosome 11 open reading frame 57 (C11orf57), transcript variant 2, mRNA.	214	Lys-rich.							p.K216fs*6(2)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AAAAGTCTCTCAAAAAACCTGC	0.411													A	111953461	-	A	111953460	7	5	131	1	0	1	1	0	0	0	0	0	1650	131	5	0	664	0	C11orf57	11	111953460	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	111953460	23053056	1256	77431	370	2									
HTR3B	9177	broad.mit.edu	37	chr11	113803746	113803749	+	Frame_Shift_Del	DEL	TCTA	TCTA	-													aatgacagtgagtgggaactTctatctgtgtcctccacata							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:113803746_113803749delTCTA	uc001pok.2	+	6	694_697	c.627_630delTCTA	c.(625-630)CTTCTAfs	p.L209fs	HTR3B_uc001pol.2_Frame_Shift_Del_p.L198fs	NM_006028	NP_006019	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B	209_210	Extracellular (Potential).				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		AGTGGGAACTTCTATCTGTGTCCT	0.485													-	113803749	TCTA	-	113803746	7	5	131	1	0	1	0	1	0	0	0	0	7445	1770	62	0	649	0	HTR3B	11	113803746	Frame_Shift_Del	DEL	TCTA	TCGA-BR-A4QL-01A-31D-A25D-08	1850286	113803746	21202770	1257	77432											
ZBTB16	7704	broad.mit.edu	37	chr11	114118084	114118084	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agacgcactatagggtgcacAcaggtaccgaaggccaggga	14	10	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:114118084A>C	uc001pop.2	+	6	2053	c.1789A>C	c.(1789-1791)ACA>CCA	p.T597P	ZBTB16_uc001poq.2_Missense_Mutation_p.T597P	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	597					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TAGGGTGCACACAGGTACCGA	0.582													C	114118084	A	C	114118084	3	2	131	1	0	0	0	0	1	0	0	0	17523	159	6	5	1807	5	ZBTB16	11	114118084	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	314338	114118084	20888432	1258	77433											
FAM55A	120400	broad.mit.edu	37	chr11	114393092	114393092	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagggatataatcatgatcTatcagagagtagagctggaa	12	5	3	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:114393092T>C	uc001ppa.2	-	6	1233	c.816A>G	c.(814-816)ATA>ATG	p.I272M	FAM55A_uc010rxd.1_Missense_Mutation_p.I121M	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	414						extracellular region					0		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		AATCATGATCTATCAGAGAGT	0.423													C	114393092	T	C	114393092	3	2	131	1	0	0	0	0	1	0	0	0	5584	1512	53	3	405	3	FAM55A	11	114393092	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	275008	114393092	20613424	1259	77434											
APOA4	337	broad.mit.edu	37	chr11	116692194	116692194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcccttgagctcctccaCgttctggtcgatcttggcct	10	15	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:116692194C>T	uc001pps.1	-	3	684	c.580G>A	c.(580-582)GTG>ATG	p.V194M		NM_000482	NP_000473			apolipoprotein A-IV precursor												0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		AGCTCCTCCACGTTCTGGTCG	0.637													T	116692194	C	T	116692194	3	4	131	1	0	0	0	0	1	0	0	0	783	536	19	1	614	1	APOA4	11	116692194	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2299102	116692194	18314322	1260	77435											
APOA1	335	broad.mit.edu	37	chr11	116707074	116707074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacagggccgagctgttcgCgcagcttgctgaaggtggag	16	10	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:116707074C>T	uc001ppu.1	-	4	333	c.254G>A	c.(253-255)CGC>CAC	p.R85H	APOA1_uc001ppv.1_Missense_Mutation_p.R85H	NM_000039	NP_000030	P02647	APOA1_HUMAN	apolipoprotein A-I preproprotein	85	10 X approximate tandem repeats.|1.				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding				0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GAGCTGTTCGCGCAGCTTGCT	0.602													T	116707074	C	T	116707074	3	4	131	1	0	0	0	0	1	0	0	0	780	768	27	1	553	1	APOA1	11	116707074	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	14880	116707074	18299442	1261	77436											
SIK3	23387	broad.mit.edu	37	chr11	116719913	116719913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcatggacggaggggcGtgctgggtacccgagcccat	17	11	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:116719913G>A	uc001ppy.2	-	21	3460	c.3424C>T	c.(3424-3426)CGC>TGC	p.R1142C	SIK3_uc001ppz.2_Missense_Mutation_p.R981C|SIK3_uc001pqa.2_Missense_Mutation_p.R1082C|SIK3_uc001ppw.2_Missense_Mutation_p.R499C|SIK3_uc001ppx.2_Missense_Mutation_p.R520C	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	1142						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						ACGGAGGGGCGTGCTGGGTAC	0.592													A	116719913	G	A	116719913	3	1	131	1	0	0	0	0	1	0	0	0	14319	1145	40	1	379	1	SIK3	11	116719913	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	12839	116719913	18286603	1262	77437											
SIK3	23387	broad.mit.edu	37	chr11	116745890	116745890	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaccgtgggtcagccacacCcactgtgtgcctcctcattg	9	16	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:116745890C>A	uc001ppy.2	-	11	1273	c.1237G>T	c.(1237-1239)GGT>TGT	p.G413C	SIK3_uc001ppz.2_Missense_Mutation_p.G312C|SIK3_uc001pqa.2_Missense_Mutation_p.G365C	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	413						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						TCAGCCACACCCACTGTGTGC	0.532													A	116745890	C	A	116745890	3	1	131	1	0	0	0	0	1	0	0	0	14319	623	22	5	2606	5	SIK3	11	116745890	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	25977	116745890	18260626	1263	77438											
SIK3	23387	broad.mit.edu	37	chr11	116746643	116746643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctaggaagtgctccgagaCgcagggttttatgtctctta	12	8	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:116746643C>T	uc001ppy.2	-	9	1040	c.1004G>A	c.(1003-1005)CGT>CAT	p.R335H	SIK3_uc001ppz.2_Missense_Mutation_p.R234H|SIK3_uc001pqa.2_Intron	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	335						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						TGCTCCGAGACGCAGGGTTTT	0.483													T	116746643	C	T	116746643	3	4	131	1	0	0	0	0	1	0	0	0	14319	536	19	1	2847	1	SIK3	11	116746643	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	753	116746643	18259873	1264	77439											
PCSK7	9159	broad.mit.edu	37	chr11	117095431	117095431	+	Frame_Shift_Del	DEL	G	G	-													agttacctttccaagctgatGggggccatccactgtcttcc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:117095431delG	uc001pqr.2	-	7	1102	c.901delC	c.(901-903)CATfs	p.H301fs		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	301	Catalytic.|Extracellular (Potential).				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CCAAGCTGATGGGGGCCATCC	0.557			T	IGH@	MLCLS								-	117095431	G	-	117095431	7	5	131	1	0	1	0	1	0	0	0	0	11605	1348	47	0	1500	0	PCSK7	11	117095431	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	348788	117095431	17911085	1265	77440											
IL10RA	3587	broad.mit.edu	37	chr11	117860269	117860269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggctaccgggccagagtgCgggctgtggacggcagccgg	19	11	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:117860269C>T	uc001prv.2	+	3	378	c.301C>T	c.(301-303)CGG>TGG	p.R101W	IL10RA_uc010rxl.1_Missense_Mutation_p.R81W|IL10RA_uc010rxm.1_Missense_Mutation_p.R81W|IL10RA_uc010rxn.1_Intron|IL10RA_uc001prw.2_5'UTR	NM_001558	NP_001549	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha precursor	101	Extracellular (Potential).					integral to membrane|plasma membrane	interleukin-10 receptor activity			ovary(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GGCCAGAGTGCGGGCTGTGGA	0.577													T	117860269	C	T	117860269	3	4	131	1	0	0	0	0	1	0	0	0	7620	759	27	1	311	1	IL10RA	11	117860269	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	764838	117860269	17146247	1266	77441											
MPZL2	10205	broad.mit.edu	37	chr11	118130911	118130911	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggaagtggatctcagagaAgcgtactgtaaggagaaaaa	13	5	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:118130911A>G	uc001psn.2	-	4	583	c.442T>C	c.(442-444)TTC>CTC	p.F148L	MPZL2_uc001pso.2_Missense_Mutation_p.F148L|MPZL2_uc001psp.1_Missense_Mutation_p.F148L	NM_005797	NP_005788	O60487	MPZL2_HUMAN	myelin protein zero-like 2 precursor	148	Extracellular (Potential).				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				skin(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		ATCTCAGAGAAGCGTACTGTA	0.388													G	118130911	A	G	118130911	3	3	131	1	0	0	0	0	1	0	0	0	9750	72	3	3	213	3	MPZL2	11	118130911	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	270642	118130911	16875605	1267	77442											
MLL	4297	broad.mit.edu	37	chr11	118365419	118365419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttttagcaaatggaacGtgtttttccatggttcagtg	9	6	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:118365419G>A	uc001pta.2	+	18	5314	c.5291G>A	c.(5290-5292)CGT>CAT	p.R1764H	MLL_uc001ptb.2_Missense_Mutation_p.R1767H	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1764					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAAATGGAACGTGTTTTTCCA	0.328			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								A	118365419	G	A	118365419	3	1	131	1	0	0	0	0	1	0	0	0	9620	1145	40	1	5361	1	MLL	11	118365419	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	234508	118365419	16641097	1268	77443											
PHLDB1	23187	broad.mit.edu	37	chr11	118499081	118499081	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgctgggggcacggggccgTaggacacggagcccctcacc	16	15	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:118499081T>C	uc001ptr.1	+	7	1895	c.1542T>C	c.(1540-1542)CGT>CGC	p.R514R	PHLDB1_uc001pts.2_Silent_p.R514R|PHLDB1_uc001ptt.2_Silent_p.R514R|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Silent_p.R314R|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	514											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CACGGGGCCGTAGGACACGGA	0.657													C	118499081	T	C	118499081	2	2	131	1	0	0	0	0	0	0	0	1	11851	1625	57	3		3	PHLDB1	11	118499081	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	133662	118499081	16507435	1269	77444											
FOXR1	283150	broad.mit.edu	37	chr11	118850287	118850287	+	Frame_Shift_Del	DEL	C	C	-													cggggaggctctggtcccggCcccctctcaattacttccac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:118850287delC	uc001pui.2	+	4	745	c.520delC	c.(520-522)CCCfs	p.P174fs	FOXR1_uc001puj.2_RNA|FOXR1_uc001puk.2_Intron	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN	forkhead box R1	174	Fork-head.				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CTGGTCCCGGCCCCCTCTCAA	0.592													-	118850287	C	-	118850287	7	5	131	1	0	1	0	1	0	0	0	0	6031	739	26	0	534	0	FOXR1	11	118850287	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	351206	118850287	16156229	1270	77445											
RNF26	79102	broad.mit.edu	37	chr11	119206681	119206681	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctctcgcctagcactgggCtcagaggcctggcgccgagt	13	15	2	1	rs145563235		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:119206681C>A	uc001pwh.2	+	1	1445	c.849C>A	c.(847-849)GGC>GGA	p.G283G		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	ring finger protein 26	283							zinc ion binding			ovary(1)	1		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		TAGCACTGGGCTCAGAGGCCT	0.672													A	119206681	C	A	119206681	2	1	131	1	0	0	0	0	0	0	0	1	13486	784	28	5		5	RNF26	11	119206681	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	356394	119206681	15799835	1271	77446											
MFRP	83552	broad.mit.edu	37	chr11	119213688	119213688	+	Frame_Shift_Del	DEL	G	G	-													atggtgcgaggagacgaggtGggggggtggctctgctccac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:119213688delG	uc001pwj.2	-	10	1310	c.1150delC	c.(1150-1152)CACfs	p.H384fs	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Frame_Shift_Del_p.P308fs	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GAGACGAGGTGGGGGGGTGGC	0.622													-	119213688	G	-	119213688	7	5	131	1	0	1	0	1	0	0	0	0	9526	1348	47	0	605	0	MFRP	11	119213688	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	7007	119213688	15792828	1272	77447											
C11orf63	79864	broad.mit.edu	37	chr11	122774667	122774667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacaaatattcagacctcCgctatgacccgaactggaag	8	11	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:122774667C>T	uc001pym.2	+	3	676	c.379C>T	c.(379-381)CGC>TGC	p.R127C	C11orf63_uc001pyl.1_Missense_Mutation_p.R127C	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	127										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TTCAGACCTCCGCTATGACCC	0.458													T	122774667	C	T	122774667	3	4	131	1	0	0	0	0	1	0	0	0	1654	652	23	1	385	1	C11orf63	11	122774667	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3560979	122774667	12231849	1273	77448											
C11orf63	79864	broad.mit.edu	37	chr11	122775058	122775058	+	Frame_Shift_Del	DEL	A	A	-													atccaaacaacattttgtggAaaaaaacaagctcactttgg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:122775057_122775057GA>G	uc001pym.3	+	2	1066	c.769_769GA>G	c.(769-771)gaafs	p.E257fs	C11orf63_uc001pyl.1_Frame_Shift_Del_p.E257fs	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	257										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ACATTTTGTGGAAAAAAACAA	0.463													-	122775058	A	-	122775058	7	5	131	1	0	1	0	1	0	0	0	0	1654	246	9	0	776	0	C11orf63	11	122775058	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	391	122775058	12231458	1274	77449											
OR10S1	219873	broad.mit.edu	37	chr11	123848364	123848364	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttggggttctccgttgtcAtggtcatcttctcacacaca	10	11	5	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:123848364A>G	uc001pzm.1	-	1	35	c.35T>C	c.(34-36)ATG>ACG	p.M12T		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	12	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTCCGTTGTCATGGTCATCTT	0.468													G	123848364	A	G	123848364	3	3	131	1	0	0	0	0	1	0	0	0	10918	217	8	3	964	3	OR10S1	11	123848364	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1073306	123848364	11158152	1275	77450											
OR8D1	283159	broad.mit.edu	37	chr11	124180467	124180467	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaatcgacgaaggacaAgctgctgaggaaatagtaca	12	7	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:124180467A>G	uc010sag.1	-	1	196	c.196T>C	c.(196-198)TTG>CTG	p.L66L		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	66	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ACGAAGGACAAGCTGCTGAGG	0.468													G	124180467	A	G	124180467	2	3	131	1	0	0	0	0	0	0	0	1	11231	69	3	3		3	OR8D1	11	124180467	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	332103	124180467	10826049	1276	77451											
ROBO3	64221	broad.mit.edu	37	chr11	124744032	124744032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagacacacacagtcagCggtctgcagcccaataccat	9	14	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:124744032C>T	uc001qbc.2	+	12	2043	c.1851C>T	c.(1849-1851)AGC>AGT	p.S617S	ROBO3_uc010saq.1_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.1_5'Flank|ROBO3_uc001qbe.2_5'Flank	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	617	Fibronectin type-III 1.|Extracellular (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ACACAGTCAGCGGTCTGCAGC	0.587													T	124744032	C	T	124744032	2	4	131	1	0	0	0	0	0	0	0	1	13515	767	27	1		1	ROBO3	11	124744032	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	563565	124744032	10262484	1277	77452											
ROBO3	64221	broad.mit.edu	37	chr11	124748587	124748587	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcccgaagggaaaccccctCtcccacaccttcctatggac	6	18	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:124748587C>A	uc001qbc.2	+	23	3620	c.3428C>A	c.(3427-3429)TCT>TAT	p.S1143Y	ROBO3_uc001qbd.2_Missense_Mutation_p.S68Y|ROBO3_uc010sar.1_Missense_Mutation_p.S192Y|ROBO3_uc001qbe.2_Missense_Mutation_p.S68Y|ROBO3_uc001qbf.1_Missense_Mutation_p.S27Y	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	1143	Cytoplasmic (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GAAACCCCCTCTCCCACACCT	0.622													A	124748587	C	A	124748587	3	1	131	1	0	0	0	0	1	0	0	0	13515	913	32	5	3518	5	ROBO3	11	124748587	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4555	124748587	10257929	1278	77453											
SRPR	6734	broad.mit.edu	37	chr11	126136150	126136150	+	Frame_Shift_Del	DEL	C	C	-													cagtccagatcctgaagctgCcccccagacccagtccctcg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:126136149_126136149GC>G	uc001qdh.3	-	6	1043	c.865_865GC>C	c.(865-867)cagfs	p.Q289fs	SRPR_uc010sbm.2_Frame_Shift_Del_p.Q261fs|FOXRED1_uc001qdi.3_5'Flank|FOXRED1_uc010sbn.2_5'Flank|FOXRED1_uc010sbq.2_5'Flank|FOXRED1_uc010sbo.2_5'Flank|FOXRED1_uc010sbp.2_5'Flank|FOXRED1_uc010sbr.2_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.	289					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TCCTGAAGCTGCCCCCCAGAC	0.532													-	126136150	C	-	126136150	7	5	131	1	0	1	0	1	0	0	0	0	15161	726	26	0	1084	0	SRPR	11	126136150	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	1387563	126136150	8870366	1279	77454											
ADAMTS8	11095	broad.mit.edu	37	chr11	130278465	130278465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccaccacatggtcacagcCggccttgacacactggccac	9	17	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:130278465C>T	uc001qgg.3	-	8	2351	c.1993G>A	c.(1993-1995)GGC>AGC	p.G665S	ADAMTS8_uc001qgf.2_Missense_Mutation_p.G146S	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	665	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TGGTCACAGCCGGCCTTGACA	0.627													T	130278465	C	T	130278465	3	4	131	1	0	0	0	0	1	0	0	0	272	652	23	1	684	1	ADAMTS8	11	130278465	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4142315	130278465	4728051	1280	77455											
JAM3	83700	broad.mit.edu	37	chr11	133938946	133938946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggggactacaagccgcgcCgcgctgccgctggcccctca	14	18	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:133938946C>T	uc001qhb.1	+	1	127	c.103C>T	c.(103-105)CGC>TGC	p.R35C	JAM3_uc009zcz.1_Missense_Mutation_p.R35C	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3 precursor	Error:Variant_position_missing_in_Q9BX67_after_alignment					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		CAAGCCGCGCCGCGCTGCCGC	0.741													T	133938946	C	T	133938946	3	4	131	1	0	0	0	0	1	0	0	0	7944	652	23	1	105	1	JAM3	11	133938946	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3660481	133938946	1067570	1281	77456											
NCAPD3	23310	broad.mit.edu	37	chr11	134048586	134048586	+	Frame_Shift_Del	DEL	G	G	-													catgacagaacctctgacctGggggggtggctgagacgctg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr11:134048585_134048585TG>T	uc001qhd.1	-	21	3332	c.2726_2726CA>A	c.(2725-2727)cagfs	p.Q909fs	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	909					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.Q909fs*12(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGG	0.522													-	134048586	G	-	134048586	7	5	131	1	0	1	0	1	0	0	0	0	10206	1357	47	0	1827	0	NCAPD3	11	134048586	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	109640	134048586	957930	1282	77457											
B4GALNT3	283358	broad.mit.edu	37	chr12	662743	662743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggcccaggcccaggcccGctggtgacagccccaggaag	17	15	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:662743G>A	uc001qii.1	+	14	1654	c.1654G>A	c.(1654-1656)GCT>ACT	p.A552T	B4GALNT3_uc001qij.1_Missense_Mutation_p.A455T|B4GALNT3_uc001qik.1_Missense_Mutation_p.A101T	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	552	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GCCCAGGCCCGCTGGTGACAG	0.642													A	662743	G	A	662743	3	1	131	1	0	0	0	0	1	0	0	0	1268	1087	38	1	1708	1	B4GALNT3	12	662743	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08		662743	133189152	1283	77458											
DCP1B	196513	broad.mit.edu	37	chr12	2058419	2058419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccctttcctttggcgggaCggaggtgggttgtgcgaaca	15	10	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:2058419C>T	uc001qjx.1	-	8	1686	c.1606G>A	c.(1606-1608)GTC>ATC	p.V536I	DCP1B_uc010sdy.1_Missense_Mutation_p.V434I	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	536					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TTTGGCGGGACGGAGGTGGGT	0.627													T	2058419	C	T	2058419	3	4	131	1	0	0	0	0	1	0	0	0	4299	536	19	1	255	1	DCP1B	12	2058419	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1395676	2058419	131793476	1284	77459											
CACNA1C	775	broad.mit.edu	37	chr12	2717706	2717706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctccatcgactcccacaCggaagacaagggccccatct	8	18	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:2717706C>T	uc009zdu.1	+	28	3759	c.3446C>T	c.(3445-3447)ACG>ATG	p.T1149M	CACNA1C_uc009zdv.1_Missense_Mutation_p.T1126M|CACNA1C_uc001qkb.2_Missense_Mutation_p.T1129M|CACNA1C_uc001qkc.2_Missense_Mutation_p.T1129M|CACNA1C_uc001qke.2_Missense_Mutation_p.T1129M|CACNA1C_uc001qkf.2_Missense_Mutation_p.T1129M|CACNA1C_uc001qjz.2_Missense_Mutation_p.T1129M|CACNA1C_uc001qkd.2_Missense_Mutation_p.T1129M|CACNA1C_uc001qkg.2_Missense_Mutation_p.T1129M|CACNA1C_uc009zdw.1_Missense_Mutation_p.T1129M|CACNA1C_uc001qkh.2_Missense_Mutation_p.T1129M|CACNA1C_uc001qkl.2_Missense_Mutation_p.T1149M|CACNA1C_uc001qkn.2_Missense_Mutation_p.T1129M|CACNA1C_uc001qko.2_Missense_Mutation_p.T1149M|CACNA1C_uc001qkp.2_Missense_Mutation_p.T1129M|CACNA1C_uc001qkr.2_Missense_Mutation_p.T1129M|CACNA1C_uc001qku.2_Missense_Mutation_p.T1129M|CACNA1C_uc001qkq.2_Missense_Mutation_p.T1129M|CACNA1C_uc001qks.2_Missense_Mutation_p.T1129M|CACNA1C_uc001qkt.2_Missense_Mutation_p.T1129M|CACNA1C_uc001qka.1_Missense_Mutation_p.T664M|CACNA1C_uc001qki.1_Missense_Mutation_p.T865M|CACNA1C_uc001qkj.1_Missense_Mutation_p.T865M|CACNA1C_uc001qkk.1_Missense_Mutation_p.T865M|CACNA1C_uc001qkm.1_Missense_Mutation_p.T865M	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1149	Extracellular (Potential).|III.|Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GACTCCCACACGGAAGACAAG	0.428													T	2717706	C	T	2717706	3	4	131	1	0	0	0	0	1	0	0	0	2540	536	19	1	3664	1	CACNA1C	12	2717706	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	659287	2717706	131134189	1285	77460											
PRMT8	56341	broad.mit.edu	37	chr12	3649780	3649780	+	Frame_Shift_Del	DEL	C	C	-													tcttcccctcaggtgaacagCcccccctcccagccccccca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:3649779_3649779GC>G	uc001qmf.3	+	1	450	c.83_83GC>G	c.(82-84)agcfs	p.S28fs	PRMT8_uc009zed.3_Frame_Shift_Del_p.S19fs|PRMT8_uc009zee.1_Non-coding_Transcript	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA.	28					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGGTGAACAGCCCCCCCTCC	0.662													-	3649780	C	-	3649780	7	5	131	1	0	1	0	1	0	0	0	0	12542	738	26	0	90	0	PRMT8	12	3649780	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	932074	3649780	130202115	1286	77461											
ANO2	57101	broad.mit.edu	37	chr12	5939605	5939605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatccatttacttacaatgCggctgcgggtggcattatca	9	10	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:5939605C>T	uc001qnm.2	-	6	896	c.824G>A	c.(823-825)CGC>CAC	p.R275H		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	280	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						ACTTACAATGCGGCTGCGGGT	0.493													T	5939605	C	T	5939605	3	4	131	1	0	0	0	0	1	0	0	0	697	768	27	1	2256	1	ANO2	12	5939605	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2289825	5939605	127912290	1287	77462											
LPAR5	57121	broad.mit.edu	37	chr12	6729439	6729439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattgcgcgagcgccgcccGcgtcccgttggtggccgagg	18	14	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:6729439G>A	uc009zer.2	-	2	1257	c.976C>T	c.(976-978)CGG>TGG	p.R326W	LPAR5_uc001qps.2_Missense_Mutation_p.R326W|LPAR5_uc010sff.1_Missense_Mutation_p.R326W	NM_001142961	NP_001136433	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	326	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2						AGCGCCGCCCGCGTCCCGTTG	0.721													A	6729439	G	A	6729439	3	1	131	1	0	0	0	0	1	0	0	0	8908	1086	38	1	146	1	LPAR5	12	6729439	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	789834	6729439	127122456	1288	77463											
COPS7A	50813	broad.mit.edu	37	chr12	6839847	6839847	+	Frame_Shift_Del	DEL	A	A	-													cctggtaggttgccaaccttAaaaaaaccattaaagttacg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:6839846_6839846TA>T	uc001qqj.3	+	6	887	c.648_648TA>T	c.(646-648)cttfs	p.L216fs	COPS7A_uc001qqh.3_Frame_Shift_Del_p.L216fs|COPS7A_uc001qqi.3_Frame_Shift_Del_p.L216fs|COPS7A_uc001qqn.4_Frame_Shift_Del_p.L216fs	NM_001164094	NP_057403	Q9UBW8	CSN7A_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis) (COPS7A), transcript variant 2, mRNA.	216					cullin deneddylation	cytoplasm|signalosome				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						TTGCCAACCTTAAAAAAACCA	0.542													-	6839847	A	-	6839847	7	5	131	1	0	1	0	1	0	0	0	0	3738	363	13	0	671	0	COPS7A	12	6839847	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	110408	6839847	127012048	1289	77464											
COPS7A	50813	broad.mit.edu	37	chr12	6840179	6840179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccaggctccgagggagcGccaagatttggtccaagtcg	14	11	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:6840179G>A	uc001qqj.2	+	8	1041	c.802G>A	c.(802-804)GCC>ACC	p.A268T	COPS7A_uc009zex.2_RNA|COPS7A_uc001qqk.2_Missense_Mutation_p.R217H|COPS7A_uc001qql.2_RNA|COPS7A_uc001qqh.2_Missense_Mutation_p.A268T|COPS7A_uc001qqi.2_Missense_Mutation_p.A268T|COPS7A_uc001qqm.2_RNA|COPS7A_uc001qqn.3_Missense_Mutation_p.A268T|COPS7A_uc001qqo.2_Missense_Mutation_p.A268T	NM_001164094	NP_001157566	Q9UBW8	CSN7A_HUMAN	COP9 complex subunit 7a	268					cullin deneddylation	cytoplasm|signalosome				ovary(1)	1						CCGAGGGAGCGCCAAGATTTG	0.527													A	6840179	G	A	6840179	3	1	131	1	0	0	0	0	1	0	0	0	3738	1087	38	1	828	1	COPS7A	12	6840179	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	332	6840179	127011716	1290	77465											
ATN1	1822	broad.mit.edu	37	chr12	7045390	7045390	+	Frame_Shift_Del	DEL	G	G	-													tcagcctctccccctggcctGggggcccaaccactacctgg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:7045390delG	uc001qrw.1	+	5	1197	c.960delG	c.(958-960)CTGfs	p.L320fs	ATN1_uc001qrx.1_Frame_Shift_Del_p.L320fs|ATN1_uc001qry.1_Frame_Shift_Del_p.L319fs	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	320					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						CCCCTGGCCTGGGGGCCCAAC	0.647													-	7045390	G	-	7045390	7	5	131	1	0	1	0	1	0	0	0	0	1111	1335	47	0	974	0	ATN1	12	7045390	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	205211	7045390	126806505	1291	77466											
C1R	715	broad.mit.edu	37	chr12	7242010	7242010	+	Frame_Shift_Del	DEL	G	G	-													tgtagttgcagcgcaggtcaGgggggtaggaccgagggtac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:7242010delG	uc010sfy.1	-	5	706	c.647delC	c.(646-648)CCTfs	p.P216fs	C1R_uc010sfz.1_Frame_Shift_Del_p.P230fs|C1R_uc010sga.1_Frame_Shift_Del_p.P182fs	NM_001733	NP_001724	P00736	C1R_HUMAN	complement component 1, r subcomponent	216	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity				0					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCGCAGGTCAGGGGGGTAGGA	0.597													-	7242010	G	-	7242010	7	5	131	1	0	1	0	1	0	0	0	0	1972	1000	35	0	1177	0	C1R	12	7242010	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	196620	7242010	126609885	1292	77467											
CD163L1	283316	broad.mit.edu	37	chr12	7531681	7531681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccagtgcagccagaattcGacattaagatgtgtaatgtt	9	8	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:7531681G>A	uc001qsy.2	-	9	2290	c.2264C>T	c.(2263-2265)TCG>TTG	p.S755L	CD163L1_uc010sge.1_Missense_Mutation_p.S765L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	755	SRCR 7.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						GCCAGAATTCGACATTAAGAT	0.448													A	7531681	G	A	7531681	3	1	131	1	0	0	0	0	1	0	0	0	2968	1059	37	1	2141	1	CD163L1	12	7531681	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	289671	7531681	126320214	1293	77468											
SLC2A3	6515	broad.mit.edu	37	chr12	8083109	8083109	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcttcttttctgttaaTgagcaaaaatctgggacttt	6	9	4	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:8083109T>G	uc001qtr.2	-	5	902	c.640A>C	c.(640-642)ATT>CTT	p.I214L	SLC2A3_uc001qts.2_Missense_Mutation_p.I214L	NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	214	Cytoplasmic (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		TTTCTGTTAATGAGCAAAAAT	0.423													G	8083109	T	G	8083109	3	3	131	1	0	0	0	0	1	0	0	0	14545	1464	51	5	874	5	SLC2A3	12	8083109	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	551428	8083109	125768786	1294	77469											
PZP	5858	broad.mit.edu	37	chr12	9345170	9345170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctattcagtgtatagtgtgCcgtgatagtctccgtgtggc	12	8	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:9345170C>T	uc001qvl.2	-	12	1449	c.1420G>A	c.(1420-1422)GCA>ACA	p.A474T	PZP_uc009zgl.2_Missense_Mutation_p.A343T	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						GTATAGTGTGCCGTGATAGTC	0.488													T	9345170	C	T	9345170	3	4	131	1	0	0	0	0	1	0	0	0	12869	739	26	2	3128	2	PZP	12	9345170	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1262061	9345170	124506725	1295	77470											
CLEC2D	29121	broad.mit.edu	37	chr12	9847461	9847461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgttccaaatcagatatAcatgtctagatgttacagca	6	7	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:9847461A>G	uc001qwg.1	+	5	589	c.567A>G	c.(565-567)ATA>ATG	p.I189M	CLEC2D_uc001qwf.1_3'UTR|CLEC2D_uc009zgs.1_RNA|CLEC2D_uc001qwh.1_RNA|CLEC2D_uc009zgt.1_RNA|CLEC2D_uc009zgu.1_3'UTR	NM_013269	NP_037401	Q9UHP7	CLC2D_HUMAN	osteoclast inhibitory lectin isoform 1	189	Extracellular (Potential).				cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity				0						AATCAGATATACATGTCTAGA	0.333													G	9847461	A	G	9847461	3	3	131	1	0	0	0	0	1	0	0	0	3508	381	14	3	671	3	CLEC2D	12	9847461	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	502291	9847461	124004434	1296	77471											
PRH1	5554	broad.mit.edu	37	chr12	11035170	11035172	+	In_Frame_Del	DEL	TTG	TTG	-													ccttgttgctgctggcctccTtgttggggtggtccctgctg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:11035169_11035171CTTG>C	uc021qvf.1	-	2	285_287	c.227_229CAAG>G	c.(226-231)caagga>cGga	p.76_77QG>R	PRH1_uc001qzb.4_Non-coding_Transcript|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Non-coding_Transcript|PRB4_uc001qzf.1_Intron	NM_006250	NP_006241	P02810	PRPC_HUMAN	Homo sapiens proline-rich protein HaeIII subfamily 1 (PRH1), mRNA.	76						extracellular space	protein binding			endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		TGCTGGCCTCCTTGTTGGGGTGG	0.606													-	11035172	TTG	-	11035170	7	5	131	1	0	1	0	1	0	0	0	0	12482	1606	56	0	280	0	PRH1	12	11035170	In_Frame_Del	DEL	TTG	TCGA-BR-A4QL-01A-31D-A25D-08	1187709	11035170	122816725	1297	77472											
HEBP1	50865	broad.mit.edu	37	chr12	13142352	13142353	+	Splice_Site	DEL	AG	AG	-													ttcataggcaacttcttcctAgagagagagaaggtacagtg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:13142351_13142352TAG>T	uc001rbd.3	-	2	274	c.79_splice	c.e2-1	p.E27_splice		NM_015987	NP_057071	Q9NRV9	HEBP1_HUMAN	Homo sapiens heme binding protein 1 (HEBP1), mRNA.	27					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		AACTTCTTCCTAGAGAGAGAGA	0.45													-	13142353	AG	-	13142352	8	5	131	1	0	1	0	1	0	0	1	0	7036	435	15	0		0	HEBP1	12	13142352	Splice_Site	DEL	AG	TCGA-BR-A4QL-01A-31D-A25D-08	2107182	13142352	120709543	1298	77473											
GRIN2B	2904	broad.mit.edu	37	chr12	13717474	13717474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggccgtgcgcagcaggcGcaggatgttggagtgtgtgt	18	8	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:13717474G>A	uc001rbt.2	-	13	2877	c.2698C>T	c.(2698-2700)CGC>TGC	p.R900C		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	900	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGCAGCAGGCGCAGGATGTTG	0.582													A	13717474	G	A	13717474	3	1	131	1	0	0	0	0	1	0	0	0	6780	1087	38	1	1760	1	GRIN2B	12	13717474	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	575122	13717474	120134421	1299	77474											
HIST4H4	121504	broad.mit.edu	37	chr12	14923723	14923724	+	Frame_Shift_Ins	INS	-	-	A													agctcaaccgccgaaaccatINSaaagggtgcgaccctggcgt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:14923723_14923724insA	uc001rcf.3	-	1	342_343	c.295_296insT	c.(295-297)TATfs	p.Y99fs	HIST4H4_uc001rce.2_RNA	NM_175054	NP_778224	P62805	H4_HUMAN	histone cluster 4, H4	99					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2						GCCGAAACCATAAAGGGTGCGA	0.574											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	14923724	-	A	14923723	7	5	131	1	0	1	1	0	0	0	0	0	7185	1406	49	0	19	0	HIST4H4	12	14923723	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1206249	14923723	118928172	1300	77475	371	2									
HIST4H4	121504	broad.mit.edu	37	chr12	14923724	14923725	+	Frame_Shift_Ins	INS	-	-	A													gctcaaccgccgaaaccataINSaagggtgcgaccctggcgtt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:14923723_14923724T>TA	uc001rcf.4	-	0	342_343	c.295_296A>TA	c.(295-297)tatfs	p.Y99fs	HIST4H4_uc001rce.3_Non-coding_Transcript	NM_175054	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 4, H4 (HIST4H4), mRNA.	99					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						GCCGAAACCATAAAGGGTGCGA	0.574											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	14923725	-	A	14923724	7	5	131	1	0	1	1	0	0	0	0	0	7185	362	13	0	20	0	HIST4H4	12	14923724	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	14923724	118928171	1301	77476	371	2									
PLEKHA5	54477	broad.mit.edu	37	chr12	19418767	19418767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctctgaagatcacattaatCgcaaatatgcttttaaggta	6	8	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:19418767C>T	uc001reb.2	+	8	780	c.694C>T	c.(694-696)CGC>TGC	p.R232C	PLEKHA5_uc010sie.1_Missense_Mutation_p.R232C|PLEKHA5_uc001rea.2_Missense_Mutation_p.R232C|PLEKHA5_uc009zin.2_5'UTR|PLEKHA5_uc010sif.1_Missense_Mutation_p.R124C|PLEKHA5_uc010sig.1_Missense_Mutation_p.R124C|PLEKHA5_uc010sih.1_Missense_Mutation_p.R124C	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	232	PH.						1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TCACATTAATCGCAAATATGC	0.328													T	19418767	C	T	19418767	3	4	131	1	0	0	0	0	1	0	0	0	12059	884	31	1	724	1	PLEKHA5	12	19418767	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4495043	19418767	114433128	1302	77477											
PDE3A	5139	broad.mit.edu	37	chr12	20523104	20523104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcggtccagctccgtcGtgtccgccgagatgtccggc	16	14	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:20523104G>A	uc001reh.1	+	1	908	c.886G>A	c.(886-888)GTG>ATG	p.V296M		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	296					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CAGCTCCGTCGTGTCCGCCGA	0.622													A	20523104	G	A	20523104	3	1	131	1	0	0	0	0	1	0	0	0	11637	1145	40	1	888	1	PDE3A	12	20523104	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1104337	20523104	113328791	1303	77478											
SLCO1C1	53919	broad.mit.edu	37	chr12	20874789	20874789	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtaggagcctggtggcTtggctatctaatagcaggaa	16	6	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:20874789T>G	uc001rej.3	+	9	1182	c.827T>G	c.(826-828)CTT>CGT	p.L276R	SLCO1C1_uc010sii.1_Missense_Mutation_p.L276R|SLCO1C1_uc010sij.1_Missense_Mutation_p.L227R|SLCO1C1_uc009zip.2_Missense_Mutation_p.L110R|SLCO1C1_uc001rei.2_Missense_Mutation_p.L276R|SLCO1C1_uc010sik.1_Missense_Mutation_p.L158R	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	276	Helical; Name=6; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					GCCTGGTGGCTTGGCTATCTA	0.423													G	20874789	T	G	20874789	3	3	131	1	0	0	0	0	1	0	0	0	14725	1609	56	5	853	5	SLCO1C1	12	20874789	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	351685	20874789	112977106	1304	77479											
SLCO1B3	28234	broad.mit.edu	37	chr12	21229432	21229432	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggctctgattgatacaacGtgtatgaagtggtccaccaa	12	8	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:21229432G>A	uc010sil.1	+	15	2042	c.1977G>A	c.(1975-1977)ACG>ACA	p.T659T	LST-3TM12_uc010sim.1_Silent_p.T598T|LST-3TM12_uc010sin.1_Silent_p.T551T			Q9NPD5	SO1B3_HUMAN	SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					TTGATACAACGTGTATGAAGT	0.358													A	21229432	G	A	21229432	2	1	131	1	0	0	0	0	0	0	0	1	14724	1132	40	1		1	SLCO1B3	12	21229432	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	354643	21229432	112622463	1305	77480											
SLCO1A2	6579	broad.mit.edu	37	chr12	21453486	21453486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacccaacgagtgtcagtggGagttatgatcagatcatctg	12	8	4	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:21453486G>A	uc001rer.2	-	7	957	c.706C>T	c.(706-708)CCC>TCC	p.P236S	SLCO1A2_uc001res.2_Missense_Mutation_p.P236S|SLCO1A2_uc010siq.1_Missense_Mutation_p.P104S|SLCO1A2_uc010sio.1_Missense_Mutation_p.P104S|SLCO1A2_uc010sip.1_Missense_Mutation_p.P104S|SLCO1A2_uc001ret.2_Missense_Mutation_p.P234S|SLCO1A2_uc001reu.2_Missense_Mutation_p.P216S	NM_021094	NP_066580	P46721	SO1A2_HUMAN	organic anion transporting polypeptide A	236	Extracellular (Potential).				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						GTGTCAGTGGGAGTTATGATC	0.363													A	21453486	G	A	21453486	3	1	131	1	0	0	0	0	1	0	0	0	14722	1174	41	4	1338	4	SLCO1A2	12	21453486	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	224054	21453486	112398409	1306	77481											
ST8SIA1	6489	broad.mit.edu	37	chr12	22408261	22408261	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgacggccacagccactcttCttcagaatcccaccatttcc	5	17	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:22408261C>A	uc001rfo.3	-	3	926	c.444G>T	c.(442-444)AAG>AAT	p.K148N	ST8SIA1_uc009zix.2_Intron	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	alpha-2,8-sialyltransferase 1	148	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(3)	3						AGCCACTCTTCTTCAGAATCC	0.522													A	22408261	C	A	22408261	3	1	131	1	0	0	0	0	1	0	0	0	15230	912	32	5	638	5	ST8SIA1	12	22408261	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	954775	22408261	111443634	1307	77482											
ST8SIA1	6489	broad.mit.edu	37	chr12	22487107	22487107	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtccgcgggaacttccaCgccagtacagccatggcccc	12	17	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:22487107C>T	uc001rfo.3	-	1	542	c.60G>A	c.(58-60)GCG>GCA	p.A20A	ST8SIA1_uc009zix.2_Translation_Start_Site|uc001rfp.1_Intron	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	alpha-2,8-sialyltransferase 1	20	Cytoplasmic (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(3)	3						GGAACTTCCACGCCAGTACAG	0.716													T	22487107	C	T	22487107	2	4	131	1	0	0	0	0	0	0	0	1	15230	523	19	1		1	ST8SIA1	12	22487107	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	78846	22487107	111364788	1308	77483											
KRAS	3845	broad.mit.edu	37	chr12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggcactcttgcctacgCcaccagctccaactaccaca	5	18	2	0	rs112445441		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:25398281C>T	uc001rgp.1	-	2	219	c.38G>A	c.(37-39)GGC>GAC	p.G13D	KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	13	GTP.		G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).|G -> D (in a breast carcinoma cell line and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13D(2647)|p.G13C(182)|p.G13S(58)|p.G13R(41)|p.G13V(27)|p.G13A(24)|p.G13G(11)|p.G13E(4)|p.G12_G13insG(4)|p.G13N(3)|p.G13I(1)|p.G13_V14>DI(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(NCIH647_LUNG)|G13D(MDAMB231_BREAST)|G13D(NCIH747_LARGE_INTESTINE)|G13D(T84_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT15_LARGE_INTESTINE)|G13D(HCT116_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25398281	C	T	25398281	3	4	131	1	0	0	0	0	1	0	0	0	8438	739	26	2	668	2	KRAS	12	25398281	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2911174	25398281	108453614	1309	77484											
C12orf71	728858	broad.mit.edu	37	chr12	27235392	27235392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagctgtcgtcctctatgtCgctgttagaggatgaatatg	13	7	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:27235392C>T	uc001rhq.2	-	1	64	c.25G>A	c.(25-27)GAC>AAC	p.D9N		NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN	hypothetical protein LOC728858	9											0						TCCTCTATGTCGCTGTTAGAG	0.463													T	27235392	C	T	27235392	3	4	131	1	0	0	0	0	1	0	0	0	1712	884	31	1	792	1	C12orf71	12	27235392	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1837111	27235392	106616503	1310	77485											
FAR2	55711	broad.mit.edu	37	chr12	29486714	29486714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactttagagcatccagcaCgctcaaagtttaagagcatt	7	10	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:29486714C>T	uc001ris.3	+	12	1682	c.1535C>T	c.(1534-1536)ACG>ATG	p.T512M	FAR2_uc001rit.2_Missense_Mutation_p.T512M|FAR2_uc009zjm.2_Missense_Mutation_p.T415M	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	512					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0						GCATCCAGCACGCTCAAAGTT	0.408													T	29486714	C	T	29486714	3	4	131	1	0	0	0	0	1	0	0	0	5675	536	19	1	1577	1	FAR2	12	29486714	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2251322	29486714	104365181	1311	77486											
OVCH1	341350	broad.mit.edu	37	chr12	29639191	29639191	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaccacacataccctttcctCtctggcttccattcacttct	2	17	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:29639191C>A	uc001rix.1	-	8	983	c.983G>T	c.(982-984)AGA>ATA	p.R328I		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	328	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACCCTTTCCTCTCTGGCTTCC	0.448													A	29639191	C	A	29639191	3	1	131	1	0	0	0	0	1	0	0	0	11323	913	32	5	2505	5	OVCH1	12	29639191	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	152477	29639191	104212704	1312	77487											
KIF21A	55605	broad.mit.edu	37	chr12	39752103	39752103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatttctagctcgattggcGtatttcagggtgtttaacgt	10	6	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:39752103G>A	uc001rly.2	-	8	1238	c.1092C>T	c.(1090-1092)TAC>TAT	p.Y364Y	KIF21A_uc001rlx.2_Silent_p.Y364Y|KIF21A_uc001rlz.2_Silent_p.Y364Y|KIF21A_uc010skl.1_Silent_p.Y364Y|KIF21A_uc001rma.1_Silent_p.Y372Y	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	364					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				CTCGATTGGCGTATTTCAGGG	0.398													A	39752103	G	A	39752103	2	1	131	1	0	0	0	0	0	0	0	1	8288	1140	40	1		1	KIF21A	12	39752103	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	10112912	39752103	94099792	1313	77488											
LRRK2	120892	broad.mit.edu	37	chr12	40740562	40740562	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttactttcagggtttcgTgcacctgaagttgccagagg	12	9	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:40740562T>C	uc001rmg.3	+	42	6238	c.6117T>C	c.(6115-6117)CGT>CGC	p.R2039R	LRRK2_uc009zjw.2_Silent_p.R877R|LRRK2_uc001rmi.2_Silent_p.R872R	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2039	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CAGGGTTTCGTGCACCTGAAG	0.373													C	40740562	T	C	40740562	2	2	131	1	0	0	0	0	0	0	0	1	9033	1683	59	3		3	LRRK2	12	40740562	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	988459	40740562	93111333	1314	77489											
CNTN1	1272	broad.mit.edu	37	chr12	41374776	41374776	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacttctgtggcacttactTggagccgtggttcagacaat	10	11	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:41374776T>C	uc001rmm.1	+	16	1983	c.1870T>C	c.(1870-1872)TGG>CGG	p.W624R	CNTN1_uc001rmn.1_Missense_Mutation_p.W613R	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	624	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GGCACTTACTTGGAGCCGTGG	0.433													C	41374776	T	C	41374776	3	2	131	1	0	0	0	0	1	0	0	0	3640	1812	63	3	1928	3	CNTN1	12	41374776	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	634214	41374776	92477119	1315	77490											
RAPGEF3	10411	broad.mit.edu	37	chr12	48134142	48134142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgaggccaaacatgacGgcaaagaaggaattgagatt	12	6	0	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:48134142G>A	uc009zkp.2	-	21	2582	c.2142C>T	c.(2140-2142)GCC>GCT	p.A714A	uc001rpv.2_RNA|RAPGEF3_uc001rpw.2_Silent_p.A49A|RAPGEF3_uc001rpx.2_Silent_p.A171A|RAPGEF3_uc010sln.1_Intron|RAPGEF3_uc001rpy.2_RNA|RAPGEF3_uc009zkq.2_Silent_p.A714A|RAPGEF3_uc001rpz.3_Silent_p.A756A	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor 3 isoform	714					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			lung(2)|skin(1)|pancreas(1)	4	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CAAACATGACGGCAAAGAAGG	0.607													A	48134142	G	A	48134142	2	1	131	1	0	0	0	0	0	0	0	1	13045	1103	39	1		1	RAPGEF3	12	48134142	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	6759366	48134142	85717753	1316	77491											
CCNT1	904	broad.mit.edu	37	chr12	49110342	49110342	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagcagattggccgcctgCtggcgataagaaagttcttt	12	8	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:49110342C>T	uc001rse.1	-	1	440	c.117G>A	c.(115-117)CAG>CAA	p.Q39Q	CCNT1_uc009zkz.1_5'UTR	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	39					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			ovary(3)|lung(1)|breast(1)|skin(1)	6						TGGCCGCCTGCTGGCGATAAG	0.537											OREG0021767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	49110342	C	T	49110342	2	4	131	1	0	0	0	0	0	0	0	1	2934	796	28	2		2	CCNT1	12	49110342	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	976200	49110342	84741553	1317	77492											
ADCY6	112	broad.mit.edu	37	chr12	49177014	49177014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcccctccggatgaaggcGtcatcctgccaggggcaccg	13	17	1	1	rs147362088		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:49177014G>A	uc001rsh.3	-	1	864	c.204C>T	c.(202-204)GAC>GAT	p.D68D	ADCY6_uc001rsj.3_Silent_p.D68D|ADCY6_uc001rsi.3_Silent_p.D68D	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	68	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0						GGATGAAGGCGTCATCCTGCC	0.711													A	49177014	G	A	49177014	2	1	131	1	0	0	0	0	0	0	0	1	298	1136	40	1		1	ADCY6	12	49177014	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	66672	49177014	84674881	1318	77493											
CACNB3	784	broad.mit.edu	37	chr12	49221650	49221650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtgaccggaactggcagCgcaaccggccttggcccaag	13	14	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:49221650C>T	uc001rsl.1	+	13	1624	c.1423C>T	c.(1423-1425)CGC>TGC	p.R475C	CACNB3_uc010sly.1_Missense_Mutation_p.R462C|CACNB3_uc010slz.1_Missense_Mutation_p.R474C|CACNB3_uc001rsk.1_Missense_Mutation_p.R322C	NM_000725	NP_000716	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3	475					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity				0					Verapamil(DB00661)	GAACTGGCAGCGCAACCGGCC	0.657													T	49221650	C	T	49221650	3	4	131	1	0	0	0	0	1	0	0	0	2554	768	27	1	1473	1	CACNB3	12	49221650	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	44636	49221650	84630245	1319	77494											
MLL2	8085	broad.mit.edu	37	chr12	49448408	49448408	+	Frame_Shift_Del	DEL	C	C	-													gcctcattgggccctgggctCcccccaggggacaccactgg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:49448408delC	uc001rta.3	-	3	303	c.303delG	c.(301-303)GGGfs	p.G101fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	101					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GCCCTGGGCTCCCCCCAGGGG	0.622			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			-	49448408	C	-	49448408	7	5	131	1	0	1	0	1	0	0	0	0	9621	842	30	0	16518	0	MLL2	12	49448408	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	226758	49448408	84403487	1320	77495											
KCNH3	23416	broad.mit.edu	37	chr12	49938099	49938099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctcgcgcactgggtcGcctgcgtctggttttacatt	11	14	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:49938099G>A	uc001ruh.1	+	7	1383	c.1123G>A	c.(1123-1125)GCC>ACC	p.A375T	KCNH3_uc010smj.1_Missense_Mutation_p.A315T	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	375	Helical; Name=Segment S5; (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						GCACTGGGTCGCCTGCGTCTG	0.592													A	49938099	G	A	49938099	3	1	131	1	0	0	0	0	1	0	0	0	8033	1087	38	1	1149	1	KCNH3	12	49938099	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	489691	49938099	83913796	1321	77496											
ACVR1B	91	broad.mit.edu	37	chr12	52345607	52345607	+	Frame_Shift_Del	DEL	G	G	-													cagcggcgggtccgggccccGgggggtccagggtgagtcct							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:52345607delG	uc001rzn.2	+	1	122	c.80delG	c.(79-81)CGGfs	p.R27fs	ACVR1B_uc001rzl.2_Frame_Shift_Del_p.R27fs|ACVR1B_uc001rzm.2_Frame_Shift_Del_p.R27fs|ACVR1B_uc010snn.1_Frame_Shift_Del_p.R27fs	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	27	Extracellular (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TCCGGGCCCCGGGGGGTCCAG	0.692													-	52345607	G	-	52345607	7	5	131	1	0	1	0	1	0	0	0	0	221	1116	39	0	82	0	ACVR1B	12	52345607	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	2407508	52345607	81506288	1322	77497											
ACVR1B	91	broad.mit.edu	37	chr12	52374774	52374774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttacccctctttgtccagcGcacagtggcccgaaccatcg	9	16	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:52374774G>A	uc001rzn.2	+	4	644	c.602G>A	c.(601-603)CGC>CAC	p.R201H	ACVR1B_uc001rzl.2_Missense_Mutation_p.R201H|ACVR1B_uc001rzm.2_Missense_Mutation_p.R201H|ACVR1B_uc010snn.1_Missense_Mutation_p.R201H	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	201	Cytoplasmic (Potential).|GS.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TTTGTCCAGCGCACAGTGGCC	0.498											OREG0021829	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	52374774	G	A	52374774	3	1	131	1	0	0	0	0	1	0	0	0	221	1087	38	1	616	1	ACVR1B	12	52374774	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	29167	52374774	81477121	1323	77498											
KRT86	3892	broad.mit.edu	37	chr12	52695798	52695798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaccgccgccccctaccGtggcatctcctgctaccgcg	8	21	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:52695798G>A	uc010snq.1	+	2	231	c.98G>A	c.(97-99)CGT>CAT	p.R33H	KRT86_uc009zmg.2_Missense_Mutation_p.R33H|KRT81_uc001sac.2_Intron|KRT86_uc001sad.2_Missense_Mutation_p.R33H	NM_002284	NP_002275	O43790	KRT86_HUMAN	keratin 86	33	Head.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCCCCTACCGTGGCATCTCC	0.711													A	52695798	G	A	52695798	3	1	131	1	0	0	0	0	1	0	0	0	8500	1145	40	1	100	1	KRT86	12	52695798	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	321024	52695798	81156097	1324	77499											
KRT6A	3853	broad.mit.edu	37	chr12	52886449	52886449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccttgtcgatgaaggagGcaaacttgttgttgagggtc	13	7	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:52886449G>A	uc001sam.2	-	1	733	c.524C>T	c.(523-525)GCC>GTC	p.A175V		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	175	Coil 1A.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)		GATGAAGGAGGCAAACTTGTT	0.587													A	52886449	G	A	52886449	3	1	131	1	0	0	0	0	1	0	0	0	8480	1203	42	2	1206	2	KRT6A	12	52886449	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	190651	52886449	80965446	1325	77500											
KRT73	319101	broad.mit.edu	37	chr12	53002213	53002213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccctgtgcctgccatccCggccatggagctgttgatga	12	14	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:53002213C>T	uc001sas.2	-	9	1425	c.1390G>A	c.(1390-1392)GGG>AGG	p.G464R		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	464	Tail.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCCATCCCGGCCATGGAG	0.622													T	53002213	C	T	53002213	3	4	131	1	0	0	0	0	1	0	0	0	8486	652	23	1	236	1	KRT73	12	53002213	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	115764	53002213	80849682	1326	77501											
KRT4	3851	broad.mit.edu	37	chr12	53207430	53207430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggagcttgatctgttcgCgctcttccgtccggactttc	11	12	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:53207430C>T	uc001saz.2	-	1	906	c.635G>A	c.(634-636)CGC>CAC	p.R212H		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	keratin 4	138						keratin filament	structural molecule activity	p.R212R(1)		ovary(4)|skin(2)	6						GATCTGTTCGCGCTCTTCCGT	0.572													T	53207430	C	T	53207430	3	4	131	1	0	0	0	0	1	0	0	0	8477	768	27	1	1185	1	KRT4	12	53207430	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	205217	53207430	80644465	1327	77502											
MAP3K12	7786	broad.mit.edu	37	chr12	53875972	53875972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggtagatagtgactggCgcatgttcaggctctgaggc	15	7	2	4	rs149876591		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:53875972C>T	uc001sdm.1	-	14	2332	c.2234G>A	c.(2233-2235)CGC>CAC	p.R745H	MAP3K12_uc001sdn.1_Missense_Mutation_p.R778H	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	745					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						TAGTGACTGGCGCATGTTCAG	0.512											OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	53875972	C	T	53875972	3	4	131	1	0	0	0	0	1	0	0	0	9246	768	27	1	353	1	MAP3K12	12	53875972	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	668542	53875972	79975923	1328	77503											
MAP3K12	7786	broad.mit.edu	37	chr12	53877706	53877708	+	In_Frame_Del	DEL	CCT	CCT	-													ggaactcacctgagctcctcCctcctcctcatcaccagttc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:53877705_53877707CCCT>C	uc001sdn.2	-	7	1617_1619	c.1346_1348AGGG>G	c.(1345-1350)agggag>aGag	p.E451del	MAP3K12_uc001sdm.2_In_Frame_Del_p.E418del	NM_001193511	NP_001180440	Q12852	M3K12_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA.	418	Leucine-zipper 2.				JNK cascade|histone phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CTGAGCTCCTCCCTCCTCCTCAT	0.547													-	53877708	CCT	-	53877706	7	5	131	1	0	1	0	1	0	0	0	0	9246	622	22	0	1359	0	MAP3K12	12	53877706	In_Frame_Del	DEL	CCT	TCGA-BR-A4QL-01A-31D-A25D-08	1734	53877706	79974189	1329	77504											
HOXC13	3229	broad.mit.edu	37	chr12	54338978	54338978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaccatctggttccagaacCggcgggtcaaagagaagaag	12	9	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:54338978C>T	uc001sei.2	+	2	1046	c.931C>T	c.(931-933)CGG>TGG	p.R311W	HOXC13_uc010sop.1_RNA	NM_017410	NP_059106	P31276	HXC13_HUMAN	homeobox C13	311	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						GTTCCAGAACCGGCGGGTCAA	0.572			T	NUP98	AML								T	54338978	C	T	54338978	3	4	131	1	0	0	0	0	1	0	0	0	7312	643	23	1	937	1	HOXC13	12	54338978	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	461272	54338978	79512917	1330	77505											
HOXC8	3224	broad.mit.edu	37	chr12	54403386	54403386	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatggggctcagcaagaggcGagcgtggtgcaatatcccga	15	9	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:54403386G>A	uc001ser.2	+	1	497	c.318G>A	c.(316-318)GCG>GCA	p.A106A		NM_022658	NP_073149	P31273	HXC8_HUMAN	homeobox C8	106						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AGCAAGAGGCGAGCGTGGTGC	0.547													A	54403386	G	A	54403386	2	1	131	1	0	0	0	0	0	0	0	1	7316	1045	37	1		1	HOXC8	12	54403386	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	64408	54403386	79448509	1331	77506											
PPP1R1A	5502	broad.mit.edu	37	chr12	54975883	54975883	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctctccttgctgctgttGccccaggtgatgttcaacca	8	14	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:54975883G>A	uc001sgg.2	-	5	451	c.280C>T	c.(280-282)CAA>TAA	p.Q94*		NM_006741	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	94					glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity				0						TGCTGCTGTTGCCCCAGGTGA	0.602													A	54975883	G	A	54975883	4	1	131	1	0	0	0	0	0	1	0	0	12367	1328	46	2	247	2	PPP1R1A	12	54975883	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	572497	54975883	78876012	1332	77507											
IKZF4	64375	broad.mit.edu	37	chr12	56415292	56415292	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagacatgcatacaccaccCgcactccctcgccgtttcca	6	19	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:56415292C>T	uc001sjb.1	+	2	174	c.15C>T	c.(13-15)CCC>CCT	p.P5P	IKZF4_uc010sqa.1_Intron|IKZF4_uc001sjc.1_Silent_p.P5P|IKZF4_uc001sjd.1_5'UTR|IKZF4_uc009zoi.1_Intron	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	zinc finger protein, subfamily 1A, 4	5					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			ATACACCACCCGCACTCCCTC	0.632													T	56415292	C	T	56415292	2	4	131	1	0	0	0	0	0	0	0	1	7617	639	23	1		1	IKZF4	12	56415292	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1439409	56415292	77436603	1333	77508											
ERBB3	2065	broad.mit.edu	37	chr12	56481671	56481671	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagtgtgccgggggctgcTcaggccctcaggacacagac	15	12	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:56481671T>C	uc001sjh.2	+	6	899	c.706T>C	c.(706-708)TCA>CCA	p.S236P	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.S177P|ERBB3_uc001sji.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	236	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CGGGGGCTGCTCAGGCCCTCA	0.547													C	56481671	T	C	56481671	3	2	131	1	0	0	0	0	1	0	0	0	5208	1551	54	3	859	3	ERBB3	12	56481671	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	66379	56481671	77370224	1334	77509											
ERBB3	2065	broad.mit.edu	37	chr12	56487604	56487604	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggatgctggggcccaGgccctggtcagtgcttgtcc	17	12	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:56487604G>T	uc001sjh.2	+	13	1730	c.1537G>T	c.(1537-1539)GGC>TGC	p.G513C	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.G454C|ERBB3_uc009zok.2_Translation_Start_Site|ERBB3_uc001sjk.2_5'Flank|ERBB3_uc001sjj.1_Missense_Mutation_p.G81C	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	513	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTGGGGCCCAGGCCCTGGTCA	0.577													T	56487604	G	T	56487604	3	4	131	1	0	0	0	0	1	0	0	0	5208	1000	35	5	1718	5	ERBB3	12	56487604	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	5933	56487604	77364291	1335	77510											
PAN2	9924	broad.mit.edu	37	chr12	56720737	56720737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgggttcacagaattggCactgccctacaaaggaggaa	12	9	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:56720737C>T	uc001skx.2	-	7	1299	c.926G>A	c.(925-927)TGC>TAC	p.C309Y	PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.C309Y|PAN2_uc001sky.2_Missense_Mutation_p.C309Y	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	309					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						ACAGAATTGGCACTGCCCTAC	0.502													T	56720737	C	T	56720737	3	4	131	1	0	0	0	0	1	0	0	0	11414	710	25	2	2762	2	PAN2	12	56720737	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	233133	56720737	77131158	1336	77511											
RBMS2	5939	broad.mit.edu	37	chr12	56962790	56962790	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtttccactaaggccataCtggacaagaccacaaacaaa	6	11	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:56962790C>T	uc001sln.2	+	3	464	c.265C>T	c.(265-267)CTG>TTG	p.L89L	RBMS2_uc010sqp.1_5'UTR|RBMS2_uc010sqq.1_5'UTR|RBMS2_uc009zou.2_Intron	NM_002898	NP_002889	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting	89	RRM 1.				RNA processing	nucleus	nucleotide binding|RNA binding				0						TAAGGCCATACTGGACAAGAC	0.453													T	56962790	C	T	56962790	2	4	131	1	0	0	0	0	0	0	0	1	13149	564	20	4		4	RBMS2	12	56962790	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	242053	56962790	76889105	1337	77512											
GPR182	11318	broad.mit.edu	37	chr12	57389547	57389547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcctctcggccatcatccCgctgcctgaggtggtccaca	11	16	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:57389547C>T	uc001smk.2	+	2	648	c.554C>T	c.(553-555)CCG>CTG	p.P185L	RDH16_uc010sqx.1_Intron	NM_007264	NP_009195	O15218	GP182_HUMAN	G protein-coupled receptor 182	185	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(1)	1						GCCATCATCCCGCTGCCTGAG	0.647													T	57389547	C	T	57389547	3	4	131	1	0	0	0	0	1	0	0	0	6677	652	23	1	556	1	GPR182	12	57389547	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	426757	57389547	76462348	1338	77513											
NAB2	4665	broad.mit.edu	37	chr12	57485188	57485188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccagtgcctgctgttcccGtctccagcatcccgctcttc	7	18	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:57485188G>A	uc001smz.2	+	2	742	c.364G>A	c.(364-366)GTC>ATC	p.V122I		NM_005967	NP_005958	Q15742	NAB2_HUMAN	NGFI-A binding protein 2	122					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			upper_aerodigestive_tract(1)|ovary(1)	2						TGCTGTTCCCGTCTCCAGCAT	0.617													A	57485188	G	A	57485188	3	1	131	1	0	0	0	0	1	0	0	0	10132	1145	40	1	370	1	NAB2	12	57485188	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	95641	57485188	76366707	1339	77514											
NAB2	4665	broad.mit.edu	37	chr12	57485461	57485461	+	Frame_Shift_Del	DEL	G	G	-													cccccttctccccccctgcaGggggaggagtccctgagggg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:57485461delG	uc001smz.2	+	2	1015	c.637delG	c.(637-639)GGGfs	p.G213fs		NM_005967	NP_005958	Q15742	NAB2_HUMAN	NGFI-A binding protein 2	213					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			upper_aerodigestive_tract(1)|ovary(1)	2						CCCCCCTGCAGGGGGAGGAGT	0.701													-	57485461	G	-	57485461	7	5	131	1	0	1	0	1	0	0	0	0	10132	1000	35	0	643	0	NAB2	12	57485461	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	273	57485461	76366434	1340	77515											
STAT6	6778	broad.mit.edu	37	chr12	57499332	57499332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaagctccccaccagccGcccctacctcctgctgtagc	7	21	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:57499332G>A	uc009zpe.2	-	8	982	c.731C>T	c.(730-732)GCG>GTG	p.A244V	STAT6_uc009zpf.2_Missense_Mutation_p.A244V|STAT6_uc001sna.2_Missense_Mutation_p.A244V|STAT6_uc010srb.1_Missense_Mutation_p.A134V|STAT6_uc010src.1_Missense_Mutation_p.A134V|STAT6_uc010srd.1_Missense_Mutation_p.A134V|STAT6_uc009zpg.2_Missense_Mutation_p.A293V	NM_003153	NP_003144	P42226	STAT6_HUMAN	signal transducer and activator of transcription	244					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(2)|lung(1)|skin(1)	4						CCCACCAGCCGCCCCTACCTC	0.627													A	57499332	G	A	57499332	3	1	131	1	0	0	0	0	1	0	0	0	15269	1087	38	1	1872	1	STAT6	12	57499332	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	13871	57499332	76352563	1341	77516											
MBD6	114785	broad.mit.edu	37	chr12	57919830	57919830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccactcctcatcacttcGtccctctcagcgtcgtcccc	4	21	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:57919830G>A	uc001soj.1	+	6	1303	c.1079G>A	c.(1078-1080)CGT>CAT	p.R360H	MBD6_uc001sok.1_Missense_Mutation_p.R227H|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	360	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						TCATCACTTCGTCCCTCTCAG	0.647													A	57919830	G	A	57919830	3	1	131	1	0	0	0	0	1	0	0	0	9348	1145	40	1	1093	1	MBD6	12	57919830	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	420498	57919830	75932065	1342	77517											
MBD6	114785	broad.mit.edu	37	chr12	57920756	57920758	+	In_Frame_Del	DEL	CTT	CTT	-													ttcctccaccaccctcagacCttcttccacctccttcagca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:57920756_57920758delCTT	uc001soj.1	+	7	2052_2054	c.1828_1830delCTT	c.(1828-1830)CTTdel	p.L611del	MBD6_uc001sok.1_In_Frame_Del_p.L478del|MBD6_uc001sol.1_RNA	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	611	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						ACCCTCAGACCTTCTTCCACCTC	0.635													-	57920758	CTT	-	57920756	7	5	131	1	0	1	0	1	0	0	0	0	9348	681	24	0	1846	0	MBD6	12	57920756	In_Frame_Del	DEL	CTT	TCGA-BR-A4QL-01A-31D-A25D-08	926	57920756	75931139	1343	77518											
MBD6	114785	broad.mit.edu	37	chr12	57922092	57922092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggagggggtcagggaaaCggggccggaggggaggaggg	26	5	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:57922092C>T	uc001soj.1	+	10	2793	c.2569C>T	c.(2569-2571)CGG>TGG	p.R857W	MBD6_uc001sok.1_Missense_Mutation_p.R725W|MBD6_uc001sol.1_RNA	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	857						chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						GTCAGGGAAACGGGGCCGGAG	0.706													T	57922092	C	T	57922092	3	4	131	1	0	0	0	0	1	0	0	0	9348	527	19	1	2599	1	MBD6	12	57922092	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1336	57922092	75929803	1344	77519											
DCTN2	10540	broad.mit.edu	37	chr12	57927806	57927807	+	Frame_Shift_Ins	INS	-	-	G													agtgacaaggctgctatctgINSggggggtcccagtggttttt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:57927805_57927806T>TG	uc021qzn.1	-	8	746_747	c.614_615A>CA	c.(613-615)ccafs	p.P205fs	DCTN2_uc001som.1_Frame_Shift_Ins_p.P200fs|DCTN2_uc009zpv.1_Frame_Shift_Ins_p.P113fs|DCTN2_uc009zpw.1_Frame_Shift_Ins_p.P113fs	NM_006400	NP_006391	Q13561	DCTN2_HUMAN	Homo sapiens dynactin 2 (p50) (DCTN2), mRNA.	200					G2/M transition of mitotic cell cycle|cell proliferation|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						GGCTGCTATCTGGGGGGGTCCC	0.5													G	57927807	-	G	57927806	7	5	131	1	0	1	1	0	0	0	0	0	4307	1348	47	0	638	0	DCTN2	12	57927806	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	5714	57927806	75924089	1345	77520											
DTX3	196403	broad.mit.edu	37	chr12	58001060	58001060	+	Frame_Shift_Del	DEL	C	C	-													cccccaggagctcgggggctCccccctcctcctccccccct							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:58001060delC	uc001sow.1	+	5	751	c.414delC	c.(412-414)CTCfs	p.L138fs	DTX3_uc001sov.1_Frame_Shift_Del_p.L131fs|DTX3_uc001sox.1_Frame_Shift_Del_p.L131fs|DTX3_uc001soy.1_Frame_Shift_Del_p.L131fs|GEFT_uc009zpy.2_5'Flank	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN	deltex homolog 3	138	Pro-rich.				Notch signaling pathway	cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)	2	Melanoma(17;0.122)					CTCGGGGGctcccccctcctc	0.537													-	58001060	C	-	58001060	7	5	131	1	0	1	0	1	0	0	0	0	4795	842	30	0	420	0	DTX3	12	58001060	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	73254	58001060	75850835	1346	77521											
AVIL	10677	broad.mit.edu	37	chr12	58203443	58203443	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccttttcctttccacacgtaGattttggttccactttggtc	6	12	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:58203443G>T	uc001sqj.1	-	8	905	c.876C>A	c.(874-876)ATC>ATA	p.I292I	AVIL_uc009zqe.1_Silent_p.I285I|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.3_Silent_p.I269I	NM_006576	NP_006567	O75366	AVIL_HUMAN	advillin	292	Gelsolin-like 3.|Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			central_nervous_system(1)	1	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TCCACACGTAGATTTTGGTTC	0.458													T	58203443	G	T	58203443	2	4	131	1	0	0	0	0	0	0	0	1	1227	932	33	5		5	AVIL	12	58203443	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	202383	58203443	75648452	1347	77522											
AVIL	10677	broad.mit.edu	37	chr12	58207051	58207051	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacggaaagtgtctgactcAtggtactggacctctcggtg	12	11	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:58207051A>G	uc001sqj.1	-	3	326	c.297T>C	c.(295-297)CAT>CAC	p.H99H	AVIL_uc009zqe.1_Silent_p.H92H|AVIL_uc001sql.3_Silent_p.H76H	NM_006576	NP_006567	O75366	AVIL_HUMAN	advillin	99	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			central_nervous_system(1)	1	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TGTCTGACTCATGGTACTGGA	0.463													G	58207051	A	G	58207051	2	3	131	1	0	0	0	0	0	0	0	1	1227	214	8	3		3	AVIL	12	58207051	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	3608	58207051	75644844	1348	77523											
AVPR1A	552	broad.mit.edu	37	chr12	63544421	63544421	+	Frame_Shift_Del	DEL	C	C	-													tacgctgctgttgcccagcaCggccaccgcgaaagtcaccg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:63544421delC	uc001sro.1	-	1	2170	c.196delG	c.(196-198)GTGfs	p.V66fs		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	66	Helical; Name=1; (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTGCCCAGCACGGCCACCGCG	0.687													-	63544421	C	-	63544421	7	5	131	1	0	1	0	1	0	0	0	0	1231	536	19	0	1068	0	AVPR1A	12	63544421	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	5337370	63544421	70307474	1349	77524											
WIF1	11197	broad.mit.edu	37	chr12	65514287	65514287	+	Frame_Shift_Del	DEL	A	A	-													gcttttctgaaatcatgtgtAaaaggtgccattttcccctc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:65514287delA	uc001ssk.2	-	2	343	c.198delT	c.(196-198)TTTfs	p.F66fs		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1 precursor	66	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			ovary(2)|lung(1)|skin(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		AATCATGTGTAAAAGGTGCCA	0.383			T	HMGA2	pleomorphic salivary gland adenoma								-	65514287	A	-	65514287	7	5	131	1	0	1	0	1	0	0	0	0	17363	359	13	0	977	0	WIF1	12	65514287	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	1969866	65514287	68337608	1350	77525											
MSRB3	253827	broad.mit.edu	37	chr12	65762800	65762800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaaccaaatttgactccGgttcaggtatgtttacatta	7	8	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:65762800G>A	uc001ssn.2	+	4	368	c.307G>A	c.(307-309)GGT>AGT	p.G103S	MSRB3_uc001ssm.2_Missense_Mutation_p.G96S|MSRB3_uc009zqp.2_Missense_Mutation_p.G96S	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3 isoform 1	103					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		ATTTGACTCCGGTTCAGGTAT	0.318													A	65762800	G	A	65762800	3	1	131	1	0	0	0	0	1	0	0	0	9889	1116	39	1	401	1	MSRB3	12	65762800	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	248513	65762800	68089095	1351	77526											
NUP107	57122	broad.mit.edu	37	chr12	69113183	69113183	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaacacttgaaggctggaaActgtaccatgaccctaatgt	9	10	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:69113183A>G	uc001suf.2	+	13	1261	c.1146A>G	c.(1144-1146)AAA>AAG	p.K382K	NUP107_uc001sug.2_Silent_p.K229K|NUP107_uc010stj.1_Silent_p.K353K	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	382					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AAGGCTGGAAACTGTACCATG	0.418													G	69113183	A	G	69113183	2	3	131	1	0	0	0	0	0	0	0	1	10753	40	2	3		3	NUP107	12	69113183	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	3350383	69113183	64738712	1352	77527											
ZFC3H1	196441	broad.mit.edu	37	chr12	72013181	72013181	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaatggaagaagattatcGcctcgattctattttaaaaa	6	5	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:72013181G>A	uc001swo.2	-	27	5417	c.5058C>T	c.(5056-5058)GGC>GGT	p.G1686G		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	1686					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						GAAGATTATCGCCTCGATTCT	0.343													A	72013181	G	A	72013181	2	1	131	1	0	0	0	0	0	0	0	1	17630	1074	38	1		1	ZFC3H1	12	72013181	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2899998	72013181	61838714	1353	77528											
TPH2	121278	broad.mit.edu	37	chr12	72425063	72425063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttctgacaaggcatgtgTgaaagcctttgacccaaaga	9	10	1	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:72425063T>C	uc009zrw.1	+	10	1331	c.1190T>C	c.(1189-1191)GTG>GCG	p.V397A	TPH2_uc001swy.2_Missense_Mutation_p.V307A	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	397					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			ovary(2)|central_nervous_system(1)|skin(1)	4					L-Tryptophan(DB00150)	AAGGCATGTGTGAAAGCCTTT	0.413													C	72425063	T	C	72425063	3	2	131	1	0	0	0	0	1	0	0	0	16399	1696	59	3	1228	3	TPH2	12	72425063	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	411882	72425063	61426832	1354	77529											
TRHDE	29953	broad.mit.edu	37	chr12	73014965	73014965	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aattttaatggatctcttgtTcaagcatcctaccaacatga	5	9	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:73014965T>A	uc001sxa.2	+	14	2442	c.2412T>A	c.(2410-2412)GTT>GTA	p.V804V		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	804	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						GATCTCTTGTTCAAGCATCCT	0.333													A	73014965	T	A	73014965	2	1	131	1	0	0	0	0	0	0	0	1	16476	1770	62	5		5	TRHDE	12	73014965	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	589902	73014965	60836930	1355	77530											
GLIPR1L2	144321	broad.mit.edu	37	chr12	75804255	75804255	+	Frame_Shift_Del	DEL	A	A	-													cggactgctagagcatggggAaaaaaatgtttgtttacgca					rs144818804	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:75804254_75804254GA>G	uc001sxr.1	+	1	283	c.275_275GA>G	c.(274-276)ggafs	p.G92fs	GLIPR1L2_uc001sxp.1_Frame_Shift_Del_p.G92fs|GLIPR1L2_uc001sxq.1_5'UTR	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	Homo sapiens GLI pathogenesis-related 1 like 2 (GLIPR1L2), mRNA.	92						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						AGAGCATGGGGAAAAAAATGT	0.318													-	75804255	A	-	75804255	7	5	131	1	0	1	0	1	0	0	0	0	6443	233	9	0	282	0	GLIPR1L2	12	75804255	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	2789290	75804255	58047640	1356	77531											
PPFIA2	8499	broad.mit.edu	37	chr12	81661753	81661753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgtagtcaaagttttcatCcagggctataagtgagccat	10	8	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:81661753C>T	uc001szo.1	-	29	3585	c.3424G>A	c.(3424-3426)GAT>AAT	p.D1142N	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	1041										ovary(3)|lung(2)|pancreas(1)	6						AAGTTTTCATCCAGGGCTATA	0.423													T	81661753	C	T	81661753	3	4	131	1	0	0	0	0	1	0	0	0	12310	855	30	4	365	4	PPFIA2	12	81661753	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	5857498	81661753	52190142	1357	77532											
ALX1	8092	broad.mit.edu	37	chr12	85674140	85674140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggagcacgttatggagaCgctggacaatgagtcctttt	12	8	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:85674140C>T	uc001tae.3	+	1	105	c.101C>T	c.(100-102)ACG>ATG	p.T34M		NM_006982	NP_008913	Q15699	ALX1_HUMAN	cartilage paired-class homeoprotein 1	34					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(134;0.134)		GTTATGGAGACGCTGGACAAT	0.567													T	85674140	C	T	85674140	3	4	131	1	0	0	0	0	1	0	0	0	556	536	19	1	103	1	ALX1	12	85674140	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4012387	85674140	48177755	1358	77533											
LUM	4060	broad.mit.edu	37	chr12	91497971	91497971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgacttcgttagcaacacGtagacattcatacatatccg	7	10	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:91497971G>A	uc001tbm.2	-	3	1377	c.988C>T	c.(988-990)CGT>TGT	p.R330C	LUM_uc001tbn.2_RNA	NM_002345	NP_002336	P51884	LUM_HUMAN	lumican precursor	330					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)	2						TTAGCAACACGTAGACATTCA	0.383													A	91497971	G	A	91497971	3	1	131	1	0	0	0	0	1	0	0	0	9085	1145	40	1	32	1	LUM	12	91497971	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	5823831	91497971	42353924	1359	77534											
LUM	4060	broad.mit.edu	37	chr12	91502682	91502682	+	Frame_Shift_Del	DEL	A	A	-													tgcccataaattgataggggAaaatcataatcatagtactg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:91502681_91502681GA>G	uc001tbm.3	-	1	465	c.76_76TC>C	c.(76-78)cccfs	p.P26fs		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	26					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						ATTGATAGGGGAAAATCATAA	0.413													-	91502682	A	-	91502682	7	5	131	1	0	1	0	1	0	0	0	0	9085	243	9	0	949	0	LUM	12	91502682	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	4711	91502682	42349213	1360	77535											
EEA1	8411	broad.mit.edu	37	chr12	93206754	93206754	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaattgcatctgtttccctAcctgctgtttatcttgtaat	6	9	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:93206754A>G	uc001tck.2	-	16	2308	c.2043_splice	c.e16+1	p.Q681_splice		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD						early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						CTGTTTCCCTACCTGCTGTTT	0.353													G	93206754	A	G	93206754	5	3	131	1	0	0	0	0	0	0	1	0	4921	405	14	3	2246	3	EEA1	12	93206754	Splice_Site	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1704072	93206754	40645141	1361	77536											
EEA1	8411	broad.mit.edu	37	chr12	93213103	93213103	+	Frame_Shift_Del	DEL	T	T	-													cttgctcctgtagtgtatggTttttttcttgtaactggtta							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:93213103delT	uc001tck.2	-	14	1974	c.1709delA	c.(1708-1710)AACfs	p.N570fs		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	570	Gln/Glu/Lys-rich.|Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						TAGTGTATGGTTTTTTTCTTG	0.299													-	93213103	T	-	93213103	7	5	131	1	0	1	0	1	0	0	0	0	4921	1725	60	0	2590	0	EEA1	12	93213103	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	6349	93213103	40638792	1362	77537											
PLXNC1	10154	broad.mit.edu	37	chr12	94620984	94620985	+	Frame_Shift_Ins	INS	-	-	G													gaagacccaaggagaacaagINSgggaacagaaccaaccaggc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:94620983_94620984A>AG	uc001tdc.3	+	8	2201_2202	c.1952_1953A>AG	c.(1951-1953)aagfs	p.K651fs		NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	651					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAGGAGAACAAGGGGAACAGAA	0.48													G	94620985	-	G	94620984	7	5	131	1	0	1	1	0	0	0	0	0	12126	991	35	0	1987	0	PLXNC1	12	94620984	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1407881	94620984	39230911	1363	77538											
ELK3	2004	broad.mit.edu	37	chr12	96641143	96641143	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaggctgcggcggcgtcCgccttcctggcctcgtccgt	14	16	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:96641143C>T	uc001teo.1	+	3	912	c.633C>T	c.(631-633)TCC>TCT	p.S211S		NM_005230	NP_005221	P41970	ELK3_HUMAN	ELK3 protein	211	Poly-Ala.				negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	all_cancers(2;0.00173)					CGGCGGCGTCCGCCTTCCTGG	0.582													T	96641143	C	T	96641143	2	4	131	1	0	0	0	0	0	0	0	1	5060	639	23	1		1	ELK3	12	96641143	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2020159	96641143	37210752	1364	77539											
UTP20	27340	broad.mit.edu	37	chr12	101736357	101736357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaagaaaattgctttgtaCggtttttgaggtctgtacta	10	5	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:101736357C>T	uc001tia.1	+	33	4391	c.4235C>T	c.(4234-4236)ACG>ATG	p.T1412M		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	1412					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						TTGCTTTGTACGGTTTTTGAG	0.338													T	101736357	C	T	101736357	3	4	131	1	0	0	0	0	1	0	0	0	17096	536	19	1	4365	1	UTP20	12	101736357	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	5095214	101736357	32115538	1365	77540											
STAB2	55576	broad.mit.edu	37	chr12	104139055	104139055	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcgtgtgacactcaggcaGgtcagtcatgggagtggtca	14	10	4	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:104139055G>T	uc001tjw.2	+	57	6322	c.6136G>T	c.(6136-6138)GTT>TTT	p.V2046F	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2046	Extracellular (Potential).				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CACTCAGGCAGGTCAGTCATG	0.597													T	104139055	G	T	104139055	3	4	131	1	0	0	0	0	1	0	0	0	15237	1014	35	5	6362	5	STAB2	12	104139055	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2402698	104139055	29712840	1366	77541											
NUAK1	9891	broad.mit.edu	37	chr12	106461103	106461103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattactgtccaacagctccGaagactcactgcgctctggg	9	14	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:106461103G>A	uc001tlj.1	-	7	2843	c.1463C>T	c.(1462-1464)TCG>TTG	p.S488L		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	488							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						CAACAGCTCCGAAGACTCACT	0.597													A	106461103	G	A	106461103	3	1	131	1	0	0	0	0	1	0	0	0	10712	1059	37	1	526	1	NUAK1	12	106461103	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2322048	106461103	27390792	1367	77542											
RIC8B	55188	broad.mit.edu	37	chr12	107237716	107237716	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgaaacatccgaaaatttctCaaagatcaggtaactgctta	6	9	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:107237716C>T	uc001tlx.2	+	6	1277	c.1152C>T	c.(1150-1152)CTC>CTT	p.L384L	RIC8B_uc001tlw.2_Silent_p.L384L|RIC8B_uc001tly.2_Silent_p.L344L|RIC8B_uc001tlz.2_RNA|RIC8B_uc009zur.2_RNA	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	resistance to inhibitors of cholinesterase 8	384					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			ovary(1)	1						GAAAATTTCTCAAAGATCAGG	0.333													T	107237716	C	T	107237716	2	4	131	1	0	0	0	0	0	0	0	1	13356	813	29	4		4	RIC8B	12	107237716	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	776613	107237716	26614179	1368	77543											
FICD	11153	broad.mit.edu	37	chr12	108910878	108910878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggccctgctgctgccGctgggggctgtggaggagca	18	12	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:108910878G>A	uc001tmx.1	+	2	275	c.129G>A	c.(127-129)CCG>CCA	p.P43P		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Huntingtin interacting protein E	43	Helical; (Potential).				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity				0						TGCTGCTGCCGCTGGGGGCTG	0.652													A	108910878	G	A	108910878	2	1	131	1	0	0	0	0	0	0	0	1	5887	1074	38	1		1	FICD	12	108910878	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1673162	108910878	24941017	1369	77544											
MYO1H	283446	broad.mit.edu	37	chr12	109839056	109839056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactcgagcgagacccccaGctgtataaatacctctcaca	8	14	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:109839056G>A	uc010sxn.1	+	5	681	c.681G>A	c.(679-681)CAG>CAA	p.Q227Q		NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0						GAGACCCCCAGCTGTATAAAT	0.552													A	109839056	G	A	109839056	2	1	131	1	0	0	0	0	0	0	0	1	10075	962	34	2		2	MYO1H	12	109839056	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	928178	109839056	24012839	1370	77545											
ATXN2	6311	broad.mit.edu	37	chr12	111908405	111908405	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgaacaaggggctgatttGggaactgctgaggactgtag	16	6	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:111908405G>T	uc001tsj.2	-	19	3302	c.3140C>A	c.(3139-3141)CCA>CAA	p.P1047Q	ATXN2_uc001tsh.2_Missense_Mutation_p.P782Q|ATXN2_uc001tsi.2_Missense_Mutation_p.P758Q|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Missense_Mutation_p.P235Q|ATXN2_uc001tsl.1_Missense_Mutation_p.P66Q	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	1047	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						GGGCTGATTTGGGAACTGCTG	0.483													T	111908405	G	T	111908405	3	4	131	1	0	0	0	0	1	0	0	0	1211	1348	47	5	829	5	ATXN2	12	111908405	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2069349	111908405	21943490	1371	77546											
ALDH2	217	broad.mit.edu	37	chr12	112229927	112229927	+	Frame_Shift_Del	DEL	G	G	-													aagagagtgaccttggagctGggggggaagagccccaacat							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:112229926_112229926TG>T	uc001tst.3	+	7	953	c.857_857TG>T	c.(856-858)ctgfs	p.L286fs	ALDH2_uc010syi.2_Frame_Shift_Del_p.L239fs	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	286					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.K289fs*45(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	ACCTTGGAGCTGGGGGGGAAG	0.572			T	HMGA2	leiomyoma								-	112229927	G	-	112229927	7	5	131	1	0	1	0	1	0	0	0	0	496	1335	47	0	888	0	ALDH2	12	112229927	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	321522	112229927	21621968	1372	77547											
TMEM116	89894	broad.mit.edu	37	chr12	112369427	112369427	+	Frame_Shift_Del	DEL	A	A	-													tgttccagtattgtagtttcAaaaaatggtagaagtactgg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:112369427delA	uc001ttc.1	-	13	1392	c.736delT	c.(736-738)TGAfs	p.*246fs	TMEM116_uc001ttd.1_Frame_Shift_Del_p.*338fs|TMEM116_uc001tte.1_Frame_Shift_Del_p.*303fs|TMEM116_uc001ttf.1_Frame_Shift_Del_p.*246fs|TMEM116_uc001ttg.1_RNA|TMEM116_uc001tth.1_Frame_Shift_Del_p.*152fs	NM_138341	NP_612350	Q8NCL8	TM116_HUMAN	transmembrane protein 116	246						integral to membrane				ovary(1)	1						TTGTAGTTTCAAAAAATGGTA	0.393													-	112369427	A	-	112369427	7	5	131	1	0	1	0	1	0	0	0	0	16027	143	5	0	5	0	TMEM116	12	112369427	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	139500	112369427	21482468	1373	77548											
RPH3A	22895	broad.mit.edu	37	chr12	113328777	113328777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacctggctgccatggacGctaatggctactcagaccca	10	14	1	1	rs140115309		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:113328777G>A	uc010syl.1	+	19	2106	c.1744G>A	c.(1744-1746)GCT>ACT	p.A582T	RPH3A_uc001ttz.2_Missense_Mutation_p.A582T|RPH3A_uc001tty.2_Missense_Mutation_p.A578T|RPH3A_uc009zwe.1_Missense_Mutation_p.A577T|RPH3A_uc010sym.1_Missense_Mutation_p.A533T|RPH3A_uc001tua.2_Missense_Mutation_p.A342T	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	582	C2 2.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGCCATGGACGCTAATGGCTA	0.577													A	113328777	G	A	113328777	3	1	131	1	0	0	0	0	1	0	0	0	13551	1087	38	1	1810	1	RPH3A	12	113328777	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	959350	113328777	20523118	1374	77549											
DTX1	1840	broad.mit.edu	37	chr12	113515236	113515236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcgagtacaggcaccatGcggcccgtgcggcgcaactt	12	13	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:113515236G>A	uc001tuk.1	+	2	603	c.267G>A	c.(265-267)ATG>ATA	p.M89I		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	89	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						CAGGCACCATGCGGCCCGTGC	0.697													A	113515236	G	A	113515236	3	1	131	1	0	0	0	0	1	0	0	0	4793	1319	46	2	273	2	DTX1	12	113515236	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	186459	113515236	20336659	1375	77550											
DDX54	79039	broad.mit.edu	37	chr12	113601049	113601049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgggtcctgaccgctgccGcttccggcccacgacctctg	12	17	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:113601049G>A	uc001tup.2	-	16	1997	c.1969C>T	c.(1969-1971)CGG>TGG	p.R657W	DDX54_uc001tuq.3_Missense_Mutation_p.R657W	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	657					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						GACCGCTGCCGCTTCCGGCCC	0.652													A	113601049	G	A	113601049	3	1	131	1	0	0	0	0	1	0	0	0	4372	1086	38	1	699	1	DDX54	12	113601049	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	85813	113601049	20250846	1376	77551											
DDX54	79039	broad.mit.edu	37	chr12	113603823	113603823	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacccgacccagcatgccatCcacaccggccacacctgcac	6	22	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:113603823C>A	uc001tup.2	-	13	1457	c.1429G>T	c.(1429-1431)GAT>TAT	p.D477Y	DDX54_uc001tuq.3_Missense_Mutation_p.D477Y	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	477					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						AGCATGCCATCCACACCGGCC	0.667													A	113603823	C	A	113603823	3	1	131	1	0	0	0	0	1	0	0	0	4372	855	30	5	1251	5	DDX54	12	113603823	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2774	113603823	20248072	1377	77552											
IQCD	115811	broad.mit.edu	37	chr12	113645772	113645772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccacatacgacagcaagGtcaccagctccaccttgtag	8	14	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:113645772G>A	uc001tuv.1	-	2	622	c.200C>T	c.(199-201)ACC>ATC	p.T67I	IQCD_uc001tuu.2_Missense_Mutation_p.T67I	NM_138451	NP_612460	Q96DY2	IQCD_HUMAN	IQ motif containing D	67										ovary(1)	1						CGACAGCAAGGTCACCAGCTC	0.537													A	113645772	G	A	113645772	3	1	131	1	0	0	0	0	1	0	0	0	7805	1261	44	4	851	4	IQCD	12	113645772	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	41949	113645772	20206123	1378	77553											
MAP1LC3B2	643246	broad.mit.edu	37	chr12	117013778	117013778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagaccttcaagcagcggCgcaccttcgaacaaagagta	10	11	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:117013778C>T	uc009zwk.1	+	2	185	c.31C>T	c.(31-33)CGC>TGC	p.R11C		NM_001085481	NP_001078950	A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3	11					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule					0						CAAGCAGCGGCGCACCTTCGA	0.602													T	117013778	C	T	117013778	3	4	131	1	0	0	0	0	1	0	0	0	9232	768	27	1	33	1	MAP1LC3B2	12	117013778	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3368006	117013778	16838117	1379	77554											
NOS1	4842	broad.mit.edu	37	chr12	117672561	117672561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcacgaagatagttgacCgactgcaggaaattgcagag	13	8	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:117672561C>T	uc001twm.1	-	21	3730	c.3044G>A	c.(3043-3045)CGG>CAG	p.R1015Q		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1015	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GATAGTTGACCGACTGCAGGA	0.478													T	117672561	C	T	117672561	3	4	131	1	0	0	0	0	1	0	0	0	10541	652	23	1	1296	1	NOS1	12	117672561	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	658783	117672561	16179334	1380	77555											
KSR2	283455	broad.mit.edu	37	chr12	118198971	118198971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttcttcttcctcatgggCggcgtgcccggcggggtcac	14	13	4	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:118198971C>T	uc001two.2	-	4	799	c.744G>A	c.(742-744)CCG>CCA	p.P248P		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	277	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTCATGGGCGGCGTGCCCG	0.701													T	118198971	C	T	118198971	2	4	131	1	0	0	0	0	0	0	0	1	8582	755	27	1		1	KSR2	12	118198971	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	526410	118198971	15652924	1381	77556											
CCDC60	160777	broad.mit.edu	37	chr12	119916943	119916943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacactgggagctagagtcaCacgtcgcccattcactccca	9	15	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:119916943C>T	uc001txe.2	+	4	851	c.386C>T	c.(385-387)ACA>ATA	p.T129I	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	129										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GCTAGAGTCACACGTCGCCCA	0.483													T	119916943	C	T	119916943	3	4	131	1	0	0	0	0	1	0	0	0	2831	478	17	4	400	4	CCDC60	12	119916943	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1717972	119916943	13934952	1382	77557											
GCN1L1	10985	broad.mit.edu	37	chr12	120576636	120576636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccttccttgccgtgggcaCgagggattcagagaaataca	12	10	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:120576636C>T	uc001txo.2	-	46	6032	c.6019G>A	c.(6019-6021)GTG>ATG	p.V2007M		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2007	HEAT 17.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCGTGGGCACGAGGGATTCA	0.557													T	120576636	C	T	120576636	3	4	131	1	0	0	0	0	1	0	0	0	6299	536	19	1	2048	1	GCN1L1	12	120576636	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	659693	120576636	13275259	1383	77558											
SPPL3	121665	broad.mit.edu	37	chr12	121229361	121229361	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaagtccatattaagggacCtgtggaaaaaaattttgtag	9	5	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:121229361C>A	uc001tzd.2	-	3	583	c.102_splice	c.e3-1	p.R34_splice	SPPL3_uc009zwz.2_Splice_Site_p.R34_splice	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN	signal peptide peptidase 3							integral to membrane	aspartic-type endopeptidase activity				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATTAAGGGACCTGTGGAAAAA	0.313													A	121229361	C	A	121229361	5	1	131	1	0	0	0	0	0	0	1	0	15089	695	24	5	1089	5	SPPL3	12	121229361	Splice_Site	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	652725	121229361	12622534	1384	77559											
RNF34	80196	broad.mit.edu	37	chr12	121868063	121868063	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctcccctcccagagcccGccccgtatttacatacttat	4	18	1	1	rs111862260	by1000genomes	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:121868063G>A	uc001uam.1	+	7	1404	c.1290G>A	c.(1288-1290)CCG>CCA	p.P430P	KDM2B_uc001uaq.2_Intron|KDM2B_uc010szy.1_3'UTR|KDM2B_uc001uar.2_Intron|KDM2B_uc001uas.2_Intron|KDM2B_uc001uat.2_3'UTR|KDM2B_uc001uau.2_3'UTR|KDM2B_uc001uao.2_Intron|KDM2B_uc010szx.1_3'UTR|KDM2B_uc001uap.2_Intron	NM_025126	NP_079402	Q969K3	RNF34_HUMAN	ring finger protein 34 isoform 2	Error:Variant_position_missing_in_Q969K3_after_alignment					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		CCCAGAGCCCGCCCCGTATTT	0.443													A	121868063	G	A	121868063	2	1	131	1	0	0	0	0	0	0	0	1	13489	1102	38	1		1	RNF34	12	121868063	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	638702	121868063	11983832	1385	77560											
HPD	3242	broad.mit.edu	37	chr12	122295334	122295334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgctgcagtagaatgacGtggcctgaatcacagggttg	13	8	2	3	rs140596268		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:122295334G>A	uc001ubj.2	-	4	138	c.98C>T	c.(97-99)GCG>GTG	p.A33V	HPD_uc001ubk.2_Translation_Start_Site	NM_002150	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	33					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GTAGAATGACGTGGCCTGAAT	0.607													A	122295334	G	A	122295334	3	1	131	1	0	0	0	0	1	0	0	0	7332	1145	40	1	1127	1	HPD	12	122295334	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	427271	122295334	11556561	1386	77561											
WDR66	144406	broad.mit.edu	37	chr12	122439464	122439464	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactgtttggcctgaatccCgagggatggaaatccgagcc	12	11	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:122439464C>T	uc009zxk.2	+	21	3439	c.3297C>T	c.(3295-3297)CCC>CCT	p.P1099P		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1099							calcium ion binding			ovary(1)|skin(1)	2	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GCCTGAATCCCGAGGGATGGA	0.498													T	122439464	C	T	122439464	2	4	131	1	0	0	0	0	0	0	0	1	17314	639	23	1		1	WDR66	12	122439464	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	144130	122439464	11412431	1387	77562											
GPR109B	8843	broad.mit.edu	37	chr12	123200619	123200619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctcttgatcttggcatgCcggtccatttgtctctgccg	10	13	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:123200619C>T	uc001ucy.3	-	1	821	c.666G>A	c.(664-666)CGG>CGA	p.R222R	GPR81_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	G protein-coupled receptor 109B	222	Cytoplasmic (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	TCTTGGCATGCCGGTCCATTT	0.537													T	123200619	C	T	123200619	2	4	131	1	0	0	0	0	0	0	0	1	6626	726	26	2		2	GPR109B	12	123200619	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	761155	123200619	10651276	1388	77563											
GPR109B	8843	broad.mit.edu	37	chr12	123200736	123200736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgccaccggaaggtatgGcagatgctgaagctgatgca	14	9	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:123200736G>A	uc001ucy.3	-	1	704	c.549C>T	c.(547-549)TGC>TGT	p.C183C	GPR81_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	G protein-coupled receptor 109B	183	Extracellular (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	GGAAGGTATGGCAGATGCTGA	0.537													A	123200736	G	A	123200736	2	1	131	1	0	0	0	0	0	0	0	1	6626	1195	42	2		2	GPR109B	12	123200736	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	117	123200736	10651159	1389	77564											
HIP1R	9026	broad.mit.edu	37	chr12	123334437	123334437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagggacatttgcatgacCgctacggacagctggtgaat	12	10	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:123334437C>T	uc001udj.1	+	5	432	c.373C>T	c.(373-375)CGC>TGC	p.R125C	HIP1R_uc001udg.1_Missense_Mutation_p.R113C|HIP1R_uc001udi.1_Missense_Mutation_p.R125C|HIP1R_uc001udh.2_Missense_Mutation_p.R125C	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	125	ENTH.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		TTTGCATGACCGCTACGGACA	0.587													T	123334437	C	T	123334437	3	4	131	1	0	0	0	0	1	0	0	0	7115	652	23	1	391	1	HIP1R	12	123334437	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	133701	123334437	10517458	1390	77565											
PITPNM2	57605	broad.mit.edu	37	chr12	123472180	123472180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagccactcgcctgagggCggctgggtcatgatgtgcac	15	11	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:123472180C>T	uc001uej.1	-	21	3280	c.3141G>A	c.(3139-3141)CCG>CCA	p.P1047P	PITPNM2_uc001uek.1_Silent_p.P1041P	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	1047					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CGCCTGAGGGCGGCTGGGTCA	0.667													T	123472180	C	T	123472180	2	4	131	1	0	0	0	0	0	0	0	1	11951	755	27	1		1	PITPNM2	12	123472180	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	137743	123472180	10379715	1391	77566											
NCOR2	9612	broad.mit.edu	37	chr12	124826379	124826379	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccactcacctcggggaccCgcagcgtagttgagtgccag	12	15	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:124826379C>T	uc010tba.1	-	34	5319	c.5202G>A	c.(5200-5202)GCG>GCA	p.A1734A	NCOR2_uc010tay.1_Silent_p.A1733A|NCOR2_uc010taz.1_Silent_p.A1717A|NCOR2_uc010tbb.1_Silent_p.A1726A|NCOR2_uc010tbc.1_Silent_p.A1716A|NCOR2_uc010tax.1_5'Flank	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1734					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTCGGGGACCCGCAGCGTAGT	0.667													T	124826379	C	T	124826379	2	4	131	1	0	0	0	0	0	0	0	1	10236	639	23	1		1	NCOR2	12	124826379	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1354199	124826379	9025516	1392	77567											
RIMBP2	23504	broad.mit.edu	37	chr12	130926898	130926898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccgccgggggctcccaGcccacaataacacttttggc	11	16	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:130926898G>A	uc001uil.2	-	8	1112	c.948C>T	c.(946-948)GGC>GGT	p.G316G	RIMBP2_uc001uim.2_Silent_p.G224G|RIMBP2_uc001uin.1_5'UTR	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	316	Fibronectin type-III 1.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGGGCTCCCAGCCCACAATAA	0.567													A	130926898	G	A	130926898	2	1	131	1	0	0	0	0	0	0	0	1	13363	958	34	2		2	RIMBP2	12	130926898	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	6100519	130926898	2924997	1393	77568											
GOLGA3	2802	broad.mit.edu	37	chr12	133362988	133362988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggcccagctccgcgtcCgcagcctccttggccgcgag	13	18	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr12:133362988C>T	uc001ukz.1	-	15	3619	c.3060G>A	c.(3058-3060)GCG>GCA	p.A1020A	GOLGA3_uc001ula.1_Silent_p.A1020A|GOLGA3_uc001ulb.2_Silent_p.A1020A	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1020	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTCCGCGTCCGCAGCCTCCT	0.667													T	133362988	C	T	133362988	2	4	131	1	0	0	0	0	0	0	0	1	6554	639	23	1		1	GOLGA3	12	133362988	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2436090	133362988	488907	1394	77569											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20235838	20235838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatttaacaaaccaacacagGattccagtggaatgacactg	7	9	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:20235838G>A	uc001umh.2	+	8	1801	c.1792G>A	c.(1792-1794)GAT>AAT	p.D598N	MPHOSPH8_uc001umg.2_Missense_Mutation_p.D598N	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	598					cell cycle	cytoplasm|nucleus					0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ACCAACACAGGATTCCAGTGG	0.463													A	20235838	G	A	20235838	3	1	131	1	0	0	0	0	1	0	0	0	9727	1188	41	4	1822	4	MPHOSPH8	13	20235838	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08		20235838	94934040	1395	77570											
ZMYM2	7750	broad.mit.edu	37	chr13	20657094	20657094	+	Frame_Shift_Del	DEL	A	A	-													gcactgtgtttaggcattggAaaaaaaatcctttaacgatg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:20657094delA	uc001umr.2	+	24	4040	c.3742delA	c.(3742-3744)AAAfs	p.K1248fs	ZMYM2_uc001ums.2_Frame_Shift_Del_p.K1248fs|ZMYM2_uc001umt.2_Frame_Shift_Del_p.K1248fs|ZMYM2_uc001umv.2_Frame_Shift_Del_p.K628fs|ZMYM2_uc001umw.2_Frame_Shift_Del_p.K701fs	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	1248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TAGGCATTGGAAAAAAAATCC	0.363													-	20657094	A	-	20657094	7	5	131	1	0	1	0	1	0	0	0	0	17697	247	9	0	3824	0	ZMYM2	13	20657094	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	421256	20657094	94512784	1396	77571											
SACS	26278	broad.mit.edu	37	chr13	23905080	23905080	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccatgcttgctccaccacaGatgtcacttcttttaagatt	5	12	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:23905080G>T	uc001uon.2	-	10	13524	c.12935C>A	c.(12934-12936)TCT>TAT	p.S4312Y	SACS_uc001uoo.2_Missense_Mutation_p.S4165Y|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4312	J.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTCCACCACAGATGTCACTTC	0.403													T	23905080	G	T	23905080	3	4	131	1	0	0	0	0	1	0	0	0	13804	942	33	5	808	5	SACS	13	23905080	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	3247986	23905080	91264798	1397	77572											
C1QTNF9	338872	broad.mit.edu	37	chr13	24892996	24892996	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcccggggaaggatgggacGagtggagagaagggagaacg	21	5	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:24892996G>A	uc001upj.2	+	3	268	c.207G>A	c.(205-207)ACG>ACA	p.T69T	C1QTNF9_uc001upe.2_RNA	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	69	Collagen-like 1.					collagen	hormone activity				0		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		AGGATGGGACGAGTGGAGAGA	0.463													A	24892996	G	A	24892996	2	1	131	1	0	0	0	0	0	0	0	1	1970	1045	37	1		1	C1QTNF9	13	24892996	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	987916	24892996	90276882	1398	77573											
PARP4	143	broad.mit.edu	37	chr13	25030482	25030482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaaaaaggagtatacctcGctttctttttctggatgttt	8	6	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:25030482G>A	uc001upl.2	-	21	2665	c.2559C>T	c.(2557-2559)AGC>AGT	p.S853S	PARP4_uc010tdc.1_Silent_p.S853S	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	853					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGTATACCTCGCTTTCTTTTT	0.383													A	25030482	G	A	25030482	2	1	131	1	0	0	0	0	0	0	0	1	11463	1078	38	1		1	PARP4	13	25030482	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	137486	25030482	90139396	1399	77574											
FAM123A	219287	broad.mit.edu	37	chr13	25745243	25745243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccttgccgttttccgagCgcccgttcttcttcagcagc	8	17	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:25745243C>T	uc001uqb.2	-	1	615	c.515G>A	c.(514-516)CGC>CAC	p.R172H	FAM123A_uc001uqa.2_Missense_Mutation_p.R172H|FAM123A_uc001uqc.2_Missense_Mutation_p.R172H	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	172										ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GTTTTCCGAGCGCCCGTTCTT	0.706													T	25745243	C	T	25745243	3	4	131	1	0	0	0	0	1	0	0	0	5422	768	27	1	1504	1	FAM123A	13	25745243	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	714761	25745243	89424635	1400	77575											
ATP8A2	51761	broad.mit.edu	37	chr13	26117431	26117431	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgttttttatttttagccTtgttgcccttgggcctgacc	9	9	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:26117431T>C	uc001uqk.2	+	10	924	c.782T>C	c.(781-783)CTT>CCT	p.L261P	ATP8A2_uc010tdi.1_Missense_Mutation_p.L221P|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.L221P	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	221	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ATTTTTAGCCTTGTTGCCCTT	0.363													C	26117431	T	C	26117431	3	2	131	1	0	0	0	0	1	0	0	0	1193	1609	56	3	820	3	ATP8A2	13	26117431	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	372188	26117431	89052447	1401	77576											
ATP8A2	51761	broad.mit.edu	37	chr13	26153014	26153014	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatggaggaaacattatgccAtctggaatactttgccacgg	10	8	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:26153014A>C	uc001uqk.2	+	21	1986	c.1844A>C	c.(1843-1845)CAT>CCT	p.H615P	ATP8A2_uc010tdi.1_Missense_Mutation_p.H575P|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.H125P	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	575	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACATTATGCCATCTGGAATAC	0.388													C	26153014	A	C	26153014	3	2	131	1	0	0	0	0	1	0	0	0	1193	217	8	5	1926	5	ATP8A2	13	26153014	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	35583	26153014	89016864	1402	77577											
GPR12	2835	broad.mit.edu	37	chr13	27332975	27332975	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgctacacatcactgggCgagcgcgctctctgggcgag	16	12	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:27332975C>T	uc010aal.2	-	2	1212	c.990G>A	c.(988-990)TCG>TCA	p.S330S	GPR12_uc010tdl.1_Silent_p.S171S	NM_005288	NP_005279	P47775	GPR12_HUMAN	G protein-coupled receptor 12	330	Cytoplasmic (Potential).					integral to plasma membrane					0	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CATCACTGGGCGAGCGCGCTC	0.542													T	27332975	C	T	27332975	2	4	131	1	0	0	0	0	0	0	0	1	6635	755	27	1		1	GPR12	13	27332975	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1179961	27332975	87836903	1403	77578											
USP12	219333	broad.mit.edu	37	chr13	27645266	27645266	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactcttaactattgcaataTaatggcctcgattgggacca	8	9	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:27645266T>C	uc001uqy.2	-	8	1206	c.953A>G	c.(952-954)TAT>TGT	p.Y318C		NM_182488	NP_872294	O75317	UBP12_HUMAN	ubiquitin thiolesterase 12	318					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)	1		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TATTGCAATATAATGGCCTCG	0.274													C	27645266	T	C	27645266	3	2	131	1	0	0	0	0	1	0	0	0	17040	1406	49	3	167	3	USP12	13	27645266	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	312291	27645266	87524612	1404	77579											
SLC46A3	283537	broad.mit.edu	37	chr13	29292078	29292078	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgttgtcagtggaccggTcaaagtcatagcaaatgcac	11	9	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:29292078T>C	uc001usi.2	-	1	1028	c.58A>G	c.(58-60)ACC>GCC	p.T20A	SLC46A3_uc001usg.2_5'Flank|SLC46A3_uc001usj.2_Missense_Mutation_p.T20A|SLC46A3_uc001ush.2_Missense_Mutation_p.T20A|SLC46A3_uc001usk.2_5'Flank	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3 isoform a	20					transmembrane transport	integral to membrane				central_nervous_system(1)|skin(1)	2		Lung SC(185;0.0367)		all cancers(112;0.159)		AGTGGACCGGTCAAAGTCATA	0.368													C	29292078	T	C	29292078	3	2	131	1	0	0	0	0	1	0	0	0	14646	1667	58	3	1361	3	SLC46A3	13	29292078	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1646812	29292078	85877800	1405	77580											
C13orf33	84935	broad.mit.edu	37	chr13	31480852	31480852	+	Frame_Shift_Del	DEL	G	G	-													cggggagccggcggcggcgcGggggggcttcaacgtcttcg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:31480852delG	uc001uth.3	+	1	541	c.200delG	c.(199-201)CGGfs	p.R67fs	uc001utg.1_Intron	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	hypothetical protein LOC84935	67											0		Lung SC(185;0.0281)		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)		gcggcggcgcgggggggcTTC	0.582													-	31480852	G	-	31480852	7	5	131	1	0	1	0	1	0	0	0	0	1727	1116	39	0	202	0	C13orf33	13	31480852	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	2188774	31480852	83689026	1406	77581											
SPG20	23111	broad.mit.edu	37	chr13	36888472	36888472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttcttctggttgaatccGctctcggagtttagaagcac	9	9	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:36888472G>A	uc001uvn.2	-	7	1645	c.1375C>T	c.(1375-1377)CGG>TGG	p.R459W	SPG20_uc010ten.1_Missense_Mutation_p.R449W|SPG20_uc001uvm.2_Missense_Mutation_p.R459W|SPG20_uc001uvo.2_Missense_Mutation_p.R459W|SPG20_uc001uvq.2_Missense_Mutation_p.R459W	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	459					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		GGTTGAATCCGCTCTCGGAGT	0.458													A	36888472	G	A	36888472	3	1	131	1	0	0	0	0	1	0	0	0	15041	1086	38	1	641	1	SPG20	13	36888472	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	5407620	36888472	78281406	1407	77582											
SMAD9	4093	broad.mit.edu	37	chr13	37427804	37427804	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctcccccgacgtagtacaAgtgcacacctgcagacacaa	7	16	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:37427804A>C	uc001uvw.2	-	6	1355	c.1012T>G	c.(1012-1014)TTG>GTG	p.L338V	SMAD9_uc001uvx.2_Missense_Mutation_p.L301V|SMAD9_uc010tep.1_Missense_Mutation_p.L131V	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	338	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		ACGTAGTACAAGTGCACACCT	0.542													C	37427804	A	C	37427804	3	2	131	1	0	0	0	0	1	0	0	0	14764	69	3	5	399	5	SMAD9	13	37427804	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	539332	37427804	77742074	1408	77583											
POSTN	10631	broad.mit.edu	37	chr13	38171373	38171373	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttcttacaagtgctgaagtAtttctttttggtgcccaaaa	8	7	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:38171373A>T	uc001uwo.3	-	2	284	c.166T>A	c.(166-168)TAC>AAC	p.Y56N	POSTN_uc001uwp.3_Missense_Mutation_p.Y56N|POSTN_uc001uwr.2_Missense_Mutation_p.Y56N|POSTN_uc001uwq.2_Missense_Mutation_p.Y56N|POSTN_uc010teu.1_Missense_Mutation_p.Y56N|POSTN_uc010tev.1_Missense_Mutation_p.Y56N|POSTN_uc010tew.1_Missense_Mutation_p.Y56N|POSTN_uc010tex.1_5'UTR	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	56	EMI.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GTGCTGAAGTATTTCTTTTTG	0.353													T	38171373	A	T	38171373	3	4	131	1	0	0	0	0	1	0	0	0	12259	449	16	5	2432	5	POSTN	13	38171373	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	743569	38171373	76998505	1409	77584											
C13orf23	80209	broad.mit.edu	37	chr13	39586971	39586971	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagggcgcctgcagccccggGaatgagggaagagcaggggt	20	9	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:39586971G>A	uc001uwy.2	-	11	3291	c.2418C>T	c.(2416-2418)TTC>TTT	p.F806F	C13orf23_uc001uwz.2_Silent_p.F784F	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	806										ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)		GCAGCCCCGGGAATGAGGGAA	0.567													A	39586971	G	A	39586971	2	1	131	1	0	0	0	0	0	0	0	1	1721	1165	41	4		4	C13orf23	13	39586971	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1415598	39586971	75582907	1410	77585											
COG6	57511	broad.mit.edu	37	chr13	40273702	40273702	+	Frame_Shift_Del	DEL	A	A	-													aagaaatgcatttgctaagcAaaaaaatattcttcaatagc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:40273702delA	uc001uxh.2	+	13	1331	c.1231delA	c.(1231-1233)AAAfs	p.K411fs	COG6_uc001uxi.2_Frame_Shift_Del_p.K359fs|COG6_uc010acb.2_Frame_Shift_Del_p.K411fs	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	411					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TTTGCTAAGCAAAAAAATATT	0.289													-	40273702	A	-	40273702	7	5	131	1	0	1	0	1	0	0	0	0	3662	131	5	0	1281	0	COG6	13	40273702	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	686731	40273702	74896176	1411	77586											
MTRF1	9617	broad.mit.edu	37	chr13	41834765	41834765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattcacagggatatgctgCagacattgctcaagtgtttg	10	8	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:41834765C>T	uc001uxx.2	-	4	749	c.279G>A	c.(277-279)CTG>CTA	p.L93L	MTRF1_uc001uxy.2_Silent_p.L93L|MTRF1_uc001uxz.2_5'UTR|MTRF1_uc010tff.1_Silent_p.L106L|MTRF1_uc001uyc.1_Silent_p.L93L	NM_004294	NP_004285	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	93					regulation of translational termination	mitochondrion	translation release factor activity, codon specific				0		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		GGATATGCTGCAGACATTGCT	0.448													T	41834765	C	T	41834765	2	4	131	1	0	0	0	0	0	0	0	1	9959	697	25	2		2	MTRF1	13	41834765	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1561063	41834765	73335113	1412	77587											
NAA16	79612	broad.mit.edu	37	chr13	41941577	41941577	+	Splice_Site	DEL	T	T	-													gtgatttttgtttttaagcaTttttttgagataactgatga							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:41941576_41941576AT>A	uc001uyf.2	+	14	1864	c.1540_splice	c.e14-1	p.H514_splice	NAA16_uc010tfg.1_Splice_Site	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	Homo sapiens N(alpha)-acetyltransferase 16, NatA auxiliary subunit (NAA16), transcript variant 1, mRNA.	514					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						GTTTTTAAGCATTTTTTTGAG	0.289													-	41941577	T	-	41941577	8	5	131	1	0	1	0	1	0	0	1	0	10119	1490	52	0	1629	0	NAA16	13	41941577	Splice_Site	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	106812	41941577	73228301	1413	77588											
TNFSF11	8600	broad.mit.edu	37	chr13	43174915	43174915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatatcgttggatcacagCacatcagagcagagaaaggt	10	8	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:43174915C>T	uc001uyu.2	+	3	564	c.415C>T	c.(415-417)CAC>TAC	p.H139Y	TNFSF11_uc001uyt.2_Missense_Mutation_p.H66Y	NM_003701	NP_003692	O14788	TNF11_HUMAN	tumor necrosis factor ligand superfamily, member	139	Extracellular (Potential).	Cleavage (By similarity).			immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding				0		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		TGGATCACAGCACATCAGAGC	0.333													T	43174915	C	T	43174915	3	4	131	1	0	0	0	0	1	0	0	0	16299	710	25	2	425	2	TNFSF11	13	43174915	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1233338	43174915	71994963	1414	77589											
NUFIP1	26747	broad.mit.edu	37	chr13	45563529	45563529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcagctcgggagacgcatGccacccgataggagtctcga	13	12	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:45563529G>A	uc001uzp.2	-	1	85	c.43C>T	c.(43-45)CAT>TAT	p.H15Y	KIAA1704_uc010tfo.1_5'Flank|KIAA1704_uc001uzq.2_5'Flank|KIAA1704_uc001uzr.1_5'Flank|KIAA1704_uc001uzs.2_5'Flank	NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein	15					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding				0		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		GGAGACGCATGCCACCCGATA	0.637													A	45563529	G	A	45563529	3	1	131	1	0	0	0	0	1	0	0	0	10748	1319	46	2	1484	2	NUFIP1	13	45563529	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2388614	45563529	69606349	1415	77590											
SIAH3	283514	broad.mit.edu	37	chr13	46358084	46358084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggggtgggcgtggtggcGgaggtggtggtggtggcggt	28	3	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:46358084G>A	uc001vap.2	-	2	326	c.244C>T	c.(244-246)CGC>TGC	p.R82C		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	seven in absentia homolog 3	82	SIAH-type; degenerate.|His-rich.				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			ovary(1)|skin(1)	2						gcgtggtggcggaggtggtgg	0.428													A	46358084	G	A	46358084	3	1	131	1	0	0	0	0	1	0	0	0	14301	1116	39	1	569	1	SIAH3	13	46358084	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	794555	46358084	68811794	1416	77591											
C13orf18	80183	broad.mit.edu	37	chr13	46917563	46917563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccagaagttttctcctcGctgtgatcctcgcacaccgg	8	14	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:46917563G>A	uc010acl.2	-	15	2551	c.1946C>T	c.(1945-1947)GCG>GTG	p.A649V	C13orf18_uc010tfy.1_Missense_Mutation_p.A172V|C13orf18_uc001vbf.3_Missense_Mutation_p.A582V|C13orf18_uc001vbg.3_Missense_Mutation_p.A377V|C13orf18_uc010tfz.1_Missense_Mutation_p.A492V|C13orf18_uc010acm.2_Missense_Mutation_p.A514V|C13orf18_uc010acn.2_Missense_Mutation_p.A434V|C13orf18_uc001vbe.3_Nonsense_Mutation_p.R598*|C13orf18_uc001vbh.3_Missense_Mutation_p.A649V|C13orf18_uc001vbi.3_Missense_Mutation_p.A492V	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	649											0		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)		TTTTCTCCTCGCTGTGATCCT	0.517													A	46917563	G	A	46917563	3	1	131	1	0	0	0	0	1	0	0	0	1720	1087	38	1	46	1	C13orf18	13	46917563	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	559479	46917563	68252315	1417	77592											
HTR2A	3356	broad.mit.edu	37	chr13	47469818	47469818	+	Frame_Shift_Del	DEL	T	T	-													ctgtcagtaaagcagaccagTttttttcctggagatgaagt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:47469818delT	uc001vbq.2	-	1	358	c.224delA	c.(223-225)AACfs	p.N75fs	HTR2A_uc001vbr.2_Intron|HTR2A_uc010acr.2_Frame_Shift_Del_p.N75fs	NM_000621	NP_000612	P28223	5HT2A_HUMAN	5-hydroxytryptamine receptor 2A isoform 1	75	Extracellular (By similarity).				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGCAGACCAGTTTTTTTCCTG	0.458													-	47469818	T	-	47469818	7	5	131	1	0	1	0	1	0	0	0	0	7441	1725	60	0	1203	0	HTR2A	13	47469818	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	552255	47469818	67700060	1418	77593											
RCBTB2	1102	broad.mit.edu	37	chr13	49085916	49085916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggacgtaccctctggacaCggatgccttgcaaagctgcc	12	13	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:49085916C>T	uc001vch.2	-	9	1144	c.773G>A	c.(772-774)CGT>CAT	p.R258H	RCBTB2_uc010tgg.1_Missense_Mutation_p.R263H|RCBTB2_uc001vci.2_Missense_Mutation_p.R234H|RCBTB2_uc010tgh.1_Missense_Mutation_p.V32M|RCBTB2_uc001vcj.2_Missense_Mutation_p.R262H|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_Missense_Mutation_p.R234H	NM_001268	NP_001259	O95199	RCBT2_HUMAN	regulator of chromosome condensation and BTB	258	RCC1 4.						Ran guanyl-nucleotide exchange factor activity			ovary(2)|lung(2)|skin(1)	5		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CCTCTGGACACGGATGCCTTG	0.493													T	49085916	C	T	49085916	3	4	131	1	0	0	0	0	1	0	0	0	13172	536	19	1	910	1	RCBTB2	13	49085916	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1616098	49085916	66083962	1419	77594											
FNDC3A	22862	broad.mit.edu	37	chr13	49781277	49781277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcagctgaactgtgaatatCgcttccgtgtatgtgccatt	9	9	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:49781277C>T	uc001vcm.2	+	26	3648	c.3343C>T	c.(3343-3345)CGC>TGC	p.R1115C	FNDC3A_uc001vcn.2_Missense_Mutation_p.R1115C|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Missense_Mutation_p.R1059C	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1115	Fibronectin type-III 9.					Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTGTGAATATCGCTTCCGTGT	0.488													T	49781277	C	T	49781277	3	4	131	1	0	0	0	0	1	0	0	0	5969	884	31	1	3452	1	FNDC3A	13	49781277	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	695361	49781277	65388601	1420	77595											
CAB39L	81617	broad.mit.edu	37	chr13	49933960	49933960	+	Frame_Shift_Del	DEL	T	T	-													ttaaatatctgggtcacatcTttttttccctgttaaagaaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:49933960delT	uc001vcw.2	-	4	783	c.285delA	c.(283-285)AAAfs	p.K95fs	CAB39L_uc001vcx.2_Frame_Shift_Del_p.K95fs|CAB39L_uc010adf.2_Frame_Shift_Del_p.K92fs	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	95					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding				0		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		GGGTCACATCTTTTTTTCCCT	0.274													-	49933960	T	-	49933960	7	5	131	1	0	1	0	1	0	0	0	0	2526	1606	56	0	752	0	CAB39L	13	49933960	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	152683	49933960	65235918	1421	77596											
RCBTB1	55213	broad.mit.edu	37	chr13	50140831	50140831	+	Frame_Shift_Del	DEL	T	T	-													ttccacataagccttctagcTttttgggtacaagtgtactc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:50140830_50140830CT>C	uc001vde.1	-	3	462	c.201_201AG>G	c.(199-201)aagfs	p.K67fs		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 (RCBTB1), mRNA.	67					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		AGCCTTCTAGCTTTTTGGGTA	0.403													-	50140831	T	-	50140831	7	5	131	1	0	1	0	1	0	0	0	0	13171	1609	56	0	1435	0	RCBTB1	13	50140831	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	206871	50140831	65029047	1422	77597											
KPNA3	3839	broad.mit.edu	37	chr13	50296165	50296165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatgacccatgtgacgttccGaaggaaggtgatggggatgg	16	6	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:50296165G>A	uc001vdj.2	-	9	1067	c.652C>T	c.(652-654)CGG>TGG	p.R218W		NM_002267	NP_002258	O00505	IMA3_HUMAN	karyopherin alpha 3	218	NLS binding site (major) (By similarity).|ARM 4.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity				0		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		GTGACGTTCCGAAGGAAGGTG	0.478													A	50296165	G	A	50296165	3	1	131	1	0	0	0	0	1	0	0	0	8431	1057	37	1	949	1	KPNA3	13	50296165	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	155334	50296165	64873713	1423	77598											
CCDC70	83446	broad.mit.edu	37	chr13	52439720	52439720	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggacttcagggaagagaTgtggactttccgaggcaaga	15	6	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:52439720T>C	uc001vfu.3	+	2	502	c.206T>C	c.(205-207)ATG>ACG	p.M69T	uc010tgr.1_RNA	NM_031290	NP_112580	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70 precursor	69						extracellular region|plasma membrane					0		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AGGGAAGAGATGTGGACTTTC	0.463													C	52439720	T	C	52439720	3	2	131	1	0	0	0	0	1	0	0	0	2843	1464	51	3	208	3	CCDC70	13	52439720	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	2143555	52439720	62730158	1424	77599											
ATP7B	540	broad.mit.edu	37	chr13	52513215	52513215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatagctctggctgtcttcCggttgtcccccgtgatcaga	10	13	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:52513215C>T	uc001vfw.2	-	17	3828	c.3671G>A	c.(3670-3672)CGG>CAG	p.R1224Q	ATP7B_uc010adv.2_Missense_Mutation_p.R794Q|ATP7B_uc001vfx.2_Missense_Mutation_p.R1017Q|ATP7B_uc001vfy.2_Missense_Mutation_p.R1113Q|ATP7B_uc010tgt.1_Missense_Mutation_p.R1159Q|ATP7B_uc010tgu.1_Missense_Mutation_p.R1176Q|ATP7B_uc010tgv.1_Missense_Mutation_p.R1146Q|ATP7B_uc001vfv.2_Missense_Mutation_p.R496Q|ATP7B_uc010tgs.1_Missense_Mutation_p.R435Q	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1224	Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GGCTGTCTTCCGGTTGTCCCC	0.527									Wilson_disease				T	52513215	C	T	52513215	3	4	131	1	0	0	0	0	1	0	0	0	1191	652	23	1	746	1	ATP7B	13	52513215	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	73495	52513215	62656663	1425	77600											
PCDH8	5100	broad.mit.edu	37	chr13	53421516	53421516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggggtgatggcgatgtcGggtgcgttgtcattgacgtc	18	7	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:53421516G>A	uc001vhi.2	-	1	1259	c.1056C>T	c.(1054-1056)CCC>CCT	p.P352P	PCDH8_uc001vhj.2_Silent_p.P352P	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	352	Extracellular (Potential).|Cadherin 3.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TGGCGATGTCGGGTGCGTTGT	0.736													A	53421516	G	A	53421516	2	1	131	1	0	0	0	0	0	0	0	1	11517	1103	39	1		1	PCDH8	13	53421516	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	908301	53421516	61748362	1426	77601											
PCDH17	27253	broad.mit.edu	37	chr13	58207236	58207236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggactggacgttaagtccCgcggcgacggcaccaagttc	13	12	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:58207236C>T	uc001vhq.1	+	1	1448	c.556C>T	c.(556-558)CGC>TGC	p.R186C	PCDH17_uc010aec.1_Missense_Mutation_p.R186C	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	186	Extracellular (Potential).|Cadherin 2.|Cell attachment site (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGTTAAGTCCCGCGGCGACGG	0.637													T	58207236	C	T	58207236	3	4	131	1	0	0	0	0	1	0	0	0	11512	652	23	1	558	1	PCDH17	13	58207236	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4785720	58207236	56962642	1427	77602											
PCDH17	27253	broad.mit.edu	37	chr13	58298910	58298910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgttgagactgagacttacGaaactgtgaatcccactggg	11	8	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:58298910G>A	uc001vhq.1	+	4	3854	c.2962G>A	c.(2962-2964)GAA>AAA	p.E988K	PCDH17_uc010aec.1_Missense_Mutation_p.E987K|PCDH17_uc001vhr.1_Missense_Mutation_p.E77K	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	988	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGAGACTTACGAAACTGTGAA	0.413													A	58298910	G	A	58298910	3	1	131	1	0	0	0	0	1	0	0	0	11512	1059	37	1	2976	1	PCDH17	13	58298910	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	91674	58298910	56870968	1428	77603											
TBC1D4	9882	broad.mit.edu	37	chr13	75884248	75884248	+	Frame_Shift_Del	DEL	A	A	-													cctcctccatggttggagagAggggggacagtggcagcagc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:75884248delA	uc001vjl.1	-	14	2770	c.2423delT	c.(2422-2424)CTCfs	p.L808fs	TBC1D4_uc010tht.1_Frame_Shift_Del_p.L18fs|TBC1D4_uc010thu.1_Frame_Shift_Del_p.L18fs|TBC1D4_uc010aer.2_Frame_Shift_Del_p.L800fs|TBC1D4_uc010aes.2_Frame_Shift_Del_p.L745fs	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	808						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GGTTGGAGAGAGGGGGGACAG	0.498													-	75884248	A	-	75884248	7	5	131	1	0	1	0	1	0	0	0	0	15619	304	11	0	1505	0	TBC1D4	13	75884248	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	17585338	75884248	39285630	1429	77604											
EDNRB	1910	broad.mit.edu	37	chr13	78475266	78475267	+	Frame_Shift_Ins	INS	-	-	A													ttcacaggtcattagtgtatINSaaaaaaatgcagtgatggcc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:78475266_78475267insA	uc001vko.2	-	4	1135_1136	c.877_878insT	c.(877-879)TATfs	p.Y293fs	EDNRB_uc001vkq.1_Frame_Shift_Ins_p.Y293fs|uc001vkn.1_Intron|EDNRB_uc010aez.1_Frame_Shift_Ins_p.Y293fs|EDNRB_uc001vkp.1_Frame_Shift_Ins_p.Y376fs	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	293	Helical; Name=5; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CATTAGTGTATAAAAAAATGCA	0.342													A	78475267	-	A	78475266	7	5	131	1	0	1	1	0	0	0	0	0	4920	1406	49	0	587	0	EDNRB	13	78475266	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	2591018	78475266	36694612	1430	77605	372	2									
EDNRB	1910	broad.mit.edu	37	chr13	78475267	78475268	+	Frame_Shift_Ins	INS	-	-	A													tcacaggtcattagtgtataINSaaaaaatgcagtgatggcca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:78475266_78475267T>TA	uc001vkp.1	-	4	1300_1301	c.1147_1148A>TA	c.(1147-1149)tatfs	p.Y383fs	EDNRB_uc001vkq.1_Frame_Shift_Ins_p.Y293fs|BC031243_uc001vkn.1_Intron|EDNRB_uc001vko.2_Frame_Shift_Ins_p.Y293fs|EDNRB_uc010aez.1_Frame_Shift_Ins_p.Y293fs	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	293			P -> L (in HSCR2; familial).		activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	p.Y293fs*3(1)|p.N382I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CATTAGTGTATAAAAAAATGCA	0.342													A	78475268	-	A	78475267	7	5	131	1	0	1	1	0	0	0	0	0	4920	362	13	0	588	0	EDNRB	13	78475267	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	78475267	36694611	1431	77606	372	2									
SLITRK1	114798	broad.mit.edu	37	chr13	84454612	84454612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgtggtcgcagctgcagCccccagggcagggtaaactg	16	11	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:84454612C>T	uc001vlk.2	-	1	1917	c.1031G>A	c.(1030-1032)GGC>GAC	p.G344D		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	344	Extracellular (Potential).|LRRNT 2.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCAGCTGCAGCCCCCAGGGCA	0.542													T	84454612	C	T	84454612	3	4	131	1	0	0	0	0	1	0	0	0	14742	739	26	2	1063	2	SLITRK1	13	84454612	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	5979345	84454612	30715266	1432	77607											
SLITRK5	26050	broad.mit.edu	37	chr13	88330138	88330138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccacttgcggagccccgCctacagcgtcagcaccatcg	9	19	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:88330138C>T	uc001vln.2	+	2	2714	c.2495C>T	c.(2494-2496)GCC>GTC	p.A832V	SLITRK5_uc010tic.1_Missense_Mutation_p.A591V	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	832	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CGGAGCCCCGCCTACAGCGTC	0.473													T	88330138	C	T	88330138	3	4	131	1	0	0	0	0	1	0	0	0	14746	739	26	2	2497	2	SLITRK5	13	88330138	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3875526	88330138	26839740	1433	77608											
GPC5	2262	broad.mit.edu	37	chr13	92345484	92345484	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagcagaaaattacaccagTatacttttttgcagtaccta	5	9	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:92345484T>C	uc010tif.1	+	3	735	c.369T>C	c.(367-369)AGT>AGC	p.S123S		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	123						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATTACACCAGTATACTTTTTT	0.433													C	92345484	T	C	92345484	2	2	131	1	0	0	0	0	0	0	0	1	6601	1635	57	3		3	GPC5	13	92345484	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	4015346	92345484	22824394	1434	77609											
DZIP1	22873	broad.mit.edu	37	chr13	96293910	96293910	+	Frame_Shift_Del	DEL	T	T	-													cgtccacagcccccgccaccTtgtccacgtcgatggcgctc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:96293910delT	uc001vmk.2	-	5	1088	c.236delA	c.(235-237)AAGfs	p.K79fs	DZIP1_uc001vml.2_Frame_Shift_Del_p.K79fs|DZIP1_uc001vmn.2_Frame_Shift_Del_p.K68fs	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	79					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CCCCGCCACCTTGTCCACGTC	0.667													-	96293910	T	-	96293910	7	5	131	1	0	1	0	1	0	0	0	0	4863	1609	56	0	2443	0	DZIP1	13	96293910	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	3948426	96293910	18875968	1435	77610											
UGGT2	55757	broad.mit.edu	37	chr13	96511867	96511867	+	Frame_Shift_Del	DEL	T	T	-													taaatgtcggtgagagataaTtttttagcaaccagaatttc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:96511867delT	uc001vmt.2	-	33	3973	c.3803delA	c.(3802-3804)AATfs	p.N1268fs	UGGT2_uc001vms.2_5'Flank	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	1268	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3						TGAGAGATAATTTTTTAGCAA	0.269													-	96511867	T	-	96511867	7	5	131	1	0	1	0	1	0	0	0	0	16939	1493	52	0	775	0	UGGT2	13	96511867	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	217957	96511867	18658011	1436	77611											
IPO5	3843	broad.mit.edu	37	chr13	98637707	98637707	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgttctcctaagacgTctcttgtcctctgcatttga	8	14	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:98637707T>A	uc001vnf.1	+	3	269	c.204T>A	c.(202-204)CGT>CGA	p.R68R	IPO5_uc001vne.2_Silent_p.R86R|IPO5_uc010tik.1_Silent_p.R68R|IPO5_uc010til.1_Silent_p.R8R	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	68	Importin N-terminal.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						TCCTAAGACGTCTCTTGTCCT	0.403													A	98637707	T	A	98637707	2	1	131	1	0	0	0	0	0	0	0	1	7796	1654	58	5		5	IPO5	13	98637707	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	2125840	98637707	16532171	1437	77612											
DOCK9	23348	broad.mit.edu	37	chr13	99520227	99520227	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaatgtagttgttgatctgCttgaagacaaagcccctgtc	9	9	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:99520227C>T	uc001vnt.2	-	29	3187	c.3132G>A	c.(3130-3132)AAG>AAA	p.K1044K	DOCK9_uc001vnw.2_Silent_p.K1043K|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.K1044K|DOCK9_uc010tis.1_Silent_p.K1043K|DOCK9_uc010tit.1_Silent_p.K1044K|DOCK9_uc010tiq.1_Silent_p.K8K|DOCK9_uc010afu.1_Silent_p.K890K	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1044					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGTTGATCTGCTTGAAGACAA	0.433													T	99520227	C	T	99520227	2	4	131	1	0	0	0	0	0	0	0	1	4694	796	28	2		2	DOCK9	13	99520227	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	882520	99520227	15649651	1438	77613											
DOCK9	23348	broad.mit.edu	37	chr13	99536156	99536156	+	Splice_Site	DEL	A	A	-													aatttccggaccataatgctAaaaaaaatatggaagaaaca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:99536155_99536155TA>T	uc001vnt.2	-	22	2441	c.2386_splice	c.e22-1	p.H796_splice	DOCK9_uc001vnw.2_Splice_Site_p.H795_splice|DOCK9_uc021rlw.1_Splice_Site_p.H795_splice|DOCK9_uc001vnv.1_Splice_Site|DOCK9_uc010tir.1_Splice_Site_p.H796_splice|DOCK9_uc010tis.1_Splice_Site_p.H795_splice|DOCK9_uc010tit.1_Splice_Site_p.H796_splice|DOCK9_uc010afu.1_Splice_Site_p.H642_splice	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	796	DHR-1.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACCATAATGCTAAAAAAAATA	0.403													-	99536156	A	-	99536156	8	5	131	1	0	1	0	1	0	0	1	0	4694	377	13	0		0	DOCK9	13	99536156	Splice_Site	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	15929	99536156	15633722	1439	77614											
GPR18	2841	broad.mit.edu	37	chr13	99908125	99908126	+	Frame_Shift_Ins	INS	-	-	T													ttgattgttcagggtgatcaINSttttacagcttgttggtagg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:99908125_99908126insT	uc001voe.3	-	3	502_503	c.1_2insA	c.(1-3)ATGfs	p.M1fs	UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron|GPR18_uc010afv.2_Frame_Shift_Ins_p.M1fs	NM_005292	NP_005283	Q14330	GPR18_HUMAN	G protein-coupled receptor 18	1	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	CAGGGTGATCATTTTACAGCTT	0.327													T	99908126	-	T	99908125	7	5	131	1	0	1	1	0	0	0	0	0	6675	217	8	0	997	0	GPR18	13	99908125	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	371969	99908125	15261753	1440	77615	373	2									
GPR18	2841	broad.mit.edu	37	chr13	99908126	99908127	+	Frame_Shift_Ins	INS	-	-	T													tgattgttcagggtgatcatINStttacagcttgttggtaggc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:99908125_99908126A>AT	uc001voe.4	-	2	660_661	c.1_2T>AT	c.(1-3)atgfs	p.M1fs	UBAC2_uc001voa.4_Intron|UBAC2_uc010tiu.2_Intron|UBAC2_uc001vob.4_Intron|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Intron|UBAC2_uc001voc.3_Intron|UBAC2_uc010tiw.2_Intron|MIR548AN_uc021rly.1_Intron|GPR18_uc010afv.3_Frame_Shift_Ins_p.M1fs|GPR18_uc021rlz.1_Splice_Site_p.M1_splice	NM_005292	NP_005283	Q14330	GPR18_HUMAN	Homo sapiens G protein-coupled receptor 18 (GPR18), transcript variant 1, mRNA.	1						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.M1I(1)		endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	CAGGGTGATCATTTTACAGCTT	0.327													T	99908127	-	T	99908126	7	5	131	1	0	1	1	0	0	0	0	0	6675	1493	52	0	998	0	GPR18	13	99908126	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	99908126	15261752	1441	77616	373	2									
FAM155A	728215	broad.mit.edu	37	chr13	108518676	108518676	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgctgctgctgctgctgcTgccgctgcctctgctgctgc	13	17	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:108518676T>C	uc001vql.2	-	1	785	c.269A>G	c.(268-270)CAG>CGG	p.Q90R		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	90	Poly-Gln.					integral to membrane	binding			skin(1)	1						ctgctgctgctgccgctgcct	0.408													C	108518676	T	C	108518676	3	2	131	1	0	0	0	0	1	0	0	0	5465	1580	55	3	1119	3	FAM155A	13	108518676	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	8610550	108518676	6651202	1442	77617											
LIG4	3981	broad.mit.edu	37	chr13	108861668	108861668	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagaaattttgttaacgttaGtaaggttaggtgcttttaag	10	2	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:108861668G>T	uc001vqn.2	-	2	2222	c.1949C>A	c.(1948-1950)ACT>AAT	p.T650N	LIG4_uc001vqo.2_Missense_Mutation_p.T650N|LIG4_uc010agg.1_Missense_Mutation_p.T583N|LIG4_uc010agf.2_Missense_Mutation_p.T650N|LIG4_uc001vqp.2_Missense_Mutation_p.T650N	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	650					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GTTAACGTTAGTAAGGTTAGG	0.373								NHEJ					T	108861668	G	T	108861668	3	4	131	1	0	0	0	0	1	0	0	0	8783	1029	36	5	790	5	LIG4	13	108861668	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	342992	108861668	6308210	1443	77618											
COL4A1	1282	broad.mit.edu	37	chr13	110828808	110828808	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacagatccttttggtccCggaagtcctggagcacctgg	11	13	0	1	rs148308759		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:110828808C>T	uc001vqw.3	-	36	3143	c.3021G>A	c.(3019-3021)CCG>CCA	p.P1007P	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1007	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTTTTGGTCCCGGAAGTCCTG	0.473													T	110828808	C	T	110828808	2	4	131	1	0	0	0	0	0	0	0	1	3689	639	23	1		1	COL4A1	13	110828808	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1967140	110828808	4341070	1444	77619											
CARS2	79587	broad.mit.edu	37	chr13	111358282	111358282	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccggtgaggctgttgtacacCtgcacacccgtctcccggcc	11	17	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:111358282C>A	uc001vrd.2	-	1	199	c.159G>T	c.(157-159)CAG>CAT	p.Q53H	CARS2_uc010tjm.1_Intron	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial	53					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding				0	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	TGTTGTACACCTGCACACCCG	0.607													A	111358282	C	A	111358282	3	1	131	1	0	0	0	0	1	0	0	0	2658	680	24	5	1595	5	CARS2	13	111358282	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	529474	111358282	3811596	1445	77620											
C13orf16	121793	broad.mit.edu	37	chr13	111980580	111980580	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actacaacgtctccagggacCgatgccaggagctcgggtgc	13	13	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:111980580C>T	uc001vsa.2	+	3	238	c.109C>T	c.(109-111)CGA>TGA	p.R37*		NM_152324	NP_689537	Q8N6K0	CM016_HUMAN	hypothetical protein LOC121793	37	Extracellular (Potential).					integral to membrane					0	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		all cancers(43;0.113)|GBM - Glioblastoma multiforme(44;0.174)|BRCA - Breast invasive adenocarcinoma(86;0.188)			CTCCAGGGACCGATGCCAGGA	0.567													T	111980580	C	T	111980580	4	4	131	1	0	0	0	0	0	1	0	0	1719	644	23	1	115	1	C13orf16	13	111980580	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	622298	111980580	3189298	1446	77621											
C13orf28	122258	broad.mit.edu	37	chr13	113052428	113052428	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgagcgaaatgccaagtacaGcatcaacattatcaacaccg	7	12	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:113052428G>T	uc001vsd.1	+	3	248	c.217G>T	c.(217-219)GCA>TCA	p.A73S		NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN	hypothetical protein LOC122258 precursor	73						extracellular region					0	all_lung(23;0.000633)|Lung NSC(43;0.0161)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0997)|Medulloblastoma(90;0.163)					GCCAAGTACAGCATCAACATT	0.438													T	113052428	G	T	113052428	3	4	131	1	0	0	0	0	1	0	0	0	1724	971	34	5	227	5	C13orf28	13	113052428	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1071848	113052428	2117450	1447	77622											
GAS6	2621	broad.mit.edu	37	chr13	114523858	114523859	+	Frame_Shift_Ins	INS	-	-	G													aggctgcggcgggctccacgINSggggggcaggagtgggccgt					rs77167214		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr13:114523857_114523858C>CG	uc001vug.3	-	6	2171_2172	c.1119_1120G>CG	c.(1117-1122)cccgtgfs	p.P373fs	GAS6_uc001vud.3_Frame_Shift_Ins_p.P672fs|GAS6_uc001vuf.3_Frame_Shift_Ins_p.P399fs	NM_001143946	NP_001137418	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 3, mRNA.	715	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	p.P672P(1)		central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GCGGGCTCCACGGGGGGGCAGG	0.703													G	114523859	-	G	114523858	7	5	131	1	0	1	1	0	0	0	0	0	6249	1103	39	0	24	0	GAS6	13	114523858	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1471430	114523858	646020	1448	77623											
OR4K1	79544	broad.mit.edu	37	chr14	20404217	20404217	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccatatgtaagcctctgcActacagtacaattatgaacc	6	11	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:20404217A>G	uc001vwj.1	+	1	392	c.392A>G	c.(391-393)CAC>CGC	p.H131R		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AAGCCTCTGCACTACAGTACA	0.438													G	20404217	A	G	20404217	3	3	131	1	0	0	0	0	1	0	0	0	11067	159	6	3	394	3	OR4K1	14	20404217	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08		20404217	86945323	1449	77624											
TEP1	7011	broad.mit.edu	37	chr14	20852773	20852773	+	Frame_Shift_Del	DEL	C	C	-													gctcacctgcggcaggtgatCcctttctgtctgcttaggta							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:20852773delC	uc001vxe.2	-	22	3247	c.3207delG	c.(3205-3207)GGGfs	p.G1069fs	TEP1_uc010ahk.2_Frame_Shift_Del_p.G419fs|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Frame_Shift_Del_p.G961fs|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1069					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGCAGGTGATCCCTTTCTGTC	0.557													-	20852773	C	-	20852773	7	5	131	1	0	1	0	1	0	0	0	0	15756	842	30	0	4812	0	TEP1	14	20852773	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	448556	20852773	86496767	1450	77625											
METT11D1	64745	broad.mit.edu	37	chr14	21462740	21462740	+	Frame_Shift_Del	DEL	T	T	-													agccttatattccaggtgtcTttttcagacagtttctacct							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:21462740delT	uc001vyn.2	+	8	933	c.736delT	c.(736-738)TTTfs	p.F246fs	METT11D1_uc001vym.2_Frame_Shift_Del_p.F246fs|METT11D1_uc001vyo.2_Frame_Shift_Del_p.F246fs|METT11D1_uc001vyp.2_Frame_Shift_Del_p.F88fs|METT11D1_uc001vyq.2_Frame_Shift_Del_p.F88fs	NM_022734	NP_073571	Q9H7H0	MET17_HUMAN	methyltransferase 11 domain containing 1 isoform	246					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity				0	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TCCAGGTGTCTTTTTCAGACA	0.418													-	21462740	T	-	21462740	7	5	131	1	0	1	0	1	0	0	0	0	9491	1609	56	0	766	0	METT11D1	14	21462740	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	609967	21462740	85886800	1451	77626											
ZNF219	51222	broad.mit.edu	37	chr14	21561074	21561075	+	Frame_Shift_Del	DEL	GC	GC	-													cagtcgggcctcgcgtagtaGcgcgcgctcttccaactcca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:21561074_21561075delGC	uc001vzr.2	-	3	802_803	c.381_382delGC	c.(379-384)GCGCTAfs	p.A127fs	ZNF219_uc001vzs.2_Frame_Shift_Del_p.A127fs|ZNF219_uc010aik.1_Frame_Shift_Del_p.A127fs	NM_016423	NP_057507	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	127_128					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)	1	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TCGCGTAGTAGCGCGCGCTCTT	0.708											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	21561075	GC	-	21561074	7	5	131	1	0	1	0	1	0	0	0	0	17770	962	34	0	1798	0	ZNF219	14	21561074	Frame_Shift_Del	DEL	GC	TCGA-BR-A4QL-01A-31D-A25D-08	98334	21561074	85788466	1452	77627											
CHD8	57680	broad.mit.edu	37	chr14	21896280	21896280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctggtgttccaatctgCggttttcctccattcctgtc	7	13	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:21896280C>T	uc001was.1	-	4	606	c.512G>A	c.(511-513)CGC>CAC	p.R171H	CHD8_uc001war.1_Missense_Mutation_p.R67H	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	450					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTCCAATCTGCGGTTTTCCTC	0.522													T	21896280	C	T	21896280	3	4	131	1	0	0	0	0	1	0	0	0	3331	768	27	1	6536	1	CHD8	14	21896280	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	335206	21896280	85453260	1453	77628											
SALL2	6297	broad.mit.edu	37	chr14	21992276	21992276	+	Frame_Shift_Del	DEL	G	G	-													tggctgagccctcactccctGggggggtgttttcatcagct							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:21992276delG	uc001wbe.2	-	2	1868	c.1586delC	c.(1585-1587)CCAfs	p.P529fs	SALL2_uc010tly.1_Frame_Shift_Del_p.P527fs|SALL2_uc010tlz.1_Frame_Shift_Del_p.P392fs|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Frame_Shift_Del_p.P394fs|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	sal-like 2	529							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|large_intestine(1)	3	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTCACTCCCTGGGGGGGTGTT	0.527													-	21992276	G	-	21992276	7	5	131	1	0	1	0	1	0	0	0	0	13811	1348	47	0	1441	0	SALL2	14	21992276	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	95996	21992276	85357264	1454	77629											
OR10G3	26533	broad.mit.edu	37	chr14	22038482	22038482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcatgagcacagggtagcGcaggggctgacatattgcca	14	9	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:22038482G>A	uc010tmb.1	-	1	394	c.394C>T	c.(394-396)CGC>TGC	p.R132C		NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G,	132	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|central_nervous_system(1)	2	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		ACAGGGTAGCGCAGGGGCTGA	0.552													A	22038482	G	A	22038482	3	1	131	1	0	0	0	0	1	0	0	0	10900	1087	38	1	550	1	OR10G3	14	22038482	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	46206	22038482	85311058	1455	77630											
CBLN3	643866	broad.mit.edu	37	chr14	24898086	24898087	+	Frame_Shift_Ins	INS	-	-	C													cccagggctgctcccccgggINScccccctgcagcagctcggc					rs147112147		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:24898086_24898087insC	uc001wpg.3	-	1	645_646	c.174_175insG	c.(172-177)GGGCCCfs	p.G58fs	KHNYN_uc010tpc.1_5'Flank|KHNYN_uc001wph.3_5'Flank|KHNYN_uc010alw.2_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	58_59						cell junction|extracellular region|synapse		p.G58G(1)		central_nervous_system(1)	1				GBM - Glioblastoma multiforme(265;0.00159)		GCTCCCCCGGGCCCCCCTGCAG	0.723													C	24898087	-	C	24898086	7	5	131	1	0	1	1	0	0	0	0	0	2706	1203	42	0	454	0	CBLN3	14	24898086	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	2859604	24898086	82451454	1456	77631											
FOXG1	2290	broad.mit.edu	37	chr14	29237391	29237391	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcaccttcatggaccgCgccggctccctctactggcc	10	19	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:29237391C>T	uc001wqe.2	+	1	1105	c.906C>T	c.(904-906)CGC>CGT	p.R302R		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	302				RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TCATGGACCGCGCCGGCTCCC	0.701													T	29237391	C	T	29237391	2	4	131	1	0	0	0	0	0	0	0	1	6007	755	27	1		1	FOXG1	14	29237391	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4339305	29237391	78112149	1457	77632											
PRKD1	5587	broad.mit.edu	37	chr14	30107951	30107951	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcagaagcttcttgcagtActggcacactgtgggccggg	13	11	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:30107951A>G	uc001wqh.2	-	5	1037	c.856T>C	c.(856-858)TAC>CAC	p.Y286H		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	286	Phorbol-ester/DAG-type 2.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TTCTTGCAGTACTGGCACACT	0.473													G	30107951	A	G	30107951	3	3	131	1	0	0	0	0	1	0	0	0	12518	391	14	3	1938	3	PRKD1	14	30107951	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	870560	30107951	77241589	1458	77633											
AKAP6	9472	broad.mit.edu	37	chr14	33015029	33015029	+	Frame_Shift_Del	DEL	A	A	-													cccacgcagcctacattgccAaaaagaggactttttcttaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:33015029delA	uc001wrq.2	+	4	1340	c.1170delA	c.(1168-1170)CCAfs	p.P390fs	AKAP6_uc010aml.2_Frame_Shift_Del_p.P387fs	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	390					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTACATTGCCAAAAAGAGGAC	0.418													-	33015029	A	-	33015029	7	5	131	1	0	1	0	1	0	0	0	0	455	117	5	0	1180	0	AKAP6	14	33015029	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	2907078	33015029	74334511	1459	77634											
AKAP6	9472	broad.mit.edu	37	chr14	33292703	33292703	+	Frame_Shift_Del	DEL	A	A	-													tccatatgtggctgacatggAaaatggcaatattgaaggta							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:33292703delA	uc001wrq.2	+	13	5854	c.5684delA	c.(5683-5685)GAAfs	p.E1895fs		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1895					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GCTGACATGGAAAATGGCAAT	0.353													-	33292703	A	-	33292703	7	5	131	1	0	1	0	1	0	0	0	0	455	246	9	0	5730	0	AKAP6	14	33292703	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	277674	33292703	74056837	1460	77635											
NPAS3	64067	broad.mit.edu	37	chr14	34269285	34269285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgcaggcgaggcgggcgCgcaggcctccagcaagcacc	16	16	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:34269285C>T	uc001wru.2	+	12	1836	c.1772C>T	c.(1771-1773)GCG>GTG	p.A591V	NPAS3_uc001wrs.2_Missense_Mutation_p.A578V|NPAS3_uc001wrt.2_Missense_Mutation_p.A559V|NPAS3_uc001wrv.2_Missense_Mutation_p.A561V	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GAGGCGGGCGCGCAGGCCTCC	0.697													T	34269285	C	T	34269285	3	4	131	1	0	0	0	0	1	0	0	0	10564	768	27	1	1873	1	NPAS3	14	34269285	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	976582	34269285	73080255	1461	77636											
SSTR1	6751	broad.mit.edu	37	chr14	38679518	38679518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacggtgagtcagctgtcGgtcatcctcggctatgccaa	12	13	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:38679518G>A	uc001wul.1	+	3	1541	c.924G>A	c.(922-924)TCG>TCA	p.S308S	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	308	Helical; Name=7; (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			central_nervous_system(3)|ovary(1)|lung(1)	5	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GTCAGCTGTCGGTCATCCTCG	0.552													A	38679518	G	A	38679518	2	1	131	1	0	0	0	0	0	0	0	1	15196	1103	39	1		1	SSTR1	14	38679518	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	4410233	38679518	68670022	1462	77637											
CTAGE5	4253	broad.mit.edu	37	chr14	39748655	39748655	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgacttgacttttttaggaCgagagaaaaagcttgctcta	9	6	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:39748655C>T	uc001wvg.3	+	4	556	c.220C>T	c.(220-222)CGA>TGA	p.R74*	CTAGE5_uc010tqe.1_Nonsense_Mutation_p.R62*|CTAGE5_uc001wuz.3_Nonsense_Mutation_p.R62*|CTAGE5_uc001wuy.3_Translation_Start_Site|CTAGE5_uc001wvb.3_Nonsense_Mutation_p.R45*|CTAGE5_uc001wvc.3_Nonsense_Mutation_p.R45*|CTAGE5_uc001wva.3_Nonsense_Mutation_p.R45*|CTAGE5_uc001wve.1_Nonsense_Mutation_p.R45*|CTAGE5_uc001wvh.3_Nonsense_Mutation_p.R74*|CTAGE5_uc001wvf.3_Translation_Start_Site|CTAGE5_uc001wvi.3_Nonsense_Mutation_p.R74*|CTAGE5_uc010amz.2_Translation_Start_Site|CTAGE5_uc001wvj.3_Nonsense_Mutation_p.R45*	NM_005930	NP_005921	O15320	CTGE5_HUMAN	CTAGE family, member 5 isoform 1	74							enzyme activator activity|protein binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TTTTTTAGGACGAGAGAAAAA	0.294													T	39748655	C	T	39748655	4	4	131	1	0	0	0	0	0	1	0	0	3994	528	19	1	265	1	CTAGE5	14	39748655	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1069137	39748655	67600885	1463	77638											
CTAGE5	4253	broad.mit.edu	37	chr14	39790150	39790150	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagcattccccatatggtcCctcaccattgggttggcctt	9	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:39790150C>A	uc001wvg.3	+	19	1898	c.1562C>A	c.(1561-1563)CCC>CAC	p.P521H	CTAGE5_uc010tqe.1_Missense_Mutation_p.P483H|CTAGE5_uc001wuz.3_Missense_Mutation_p.P509H|CTAGE5_uc001wuy.3_Missense_Mutation_p.P441H|CTAGE5_uc001wvb.3_Intron|CTAGE5_uc001wvc.3_Intron|CTAGE5_uc001wva.3_Missense_Mutation_p.P492H|CTAGE5_uc001wvh.3_Intron|CTAGE5_uc001wvf.3_Missense_Mutation_p.P446H|CTAGE5_uc001wvi.3_Missense_Mutation_p.P526H|CTAGE5_uc010amz.2_Missense_Mutation_p.P137H|CTAGE5_uc001wvj.3_Missense_Mutation_p.P492H	NM_005930	NP_005921	O15320	CTGE5_HUMAN	CTAGE family, member 5 isoform 1	521	Pro-rich.						enzyme activator activity|protein binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		CCATATGGTCCCTCACCATTG	0.428													A	39790150	C	A	39790150	3	1	131	1	0	0	0	0	1	0	0	0	3994	623	22	5	1667	5	CTAGE5	14	39790150	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	41495	39790150	67559390	1464	77639											
FBXO33	254170	broad.mit.edu	37	chr14	39871611	39871611	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accatataacttactgtttaAtttttttgccatcagggtcc	5	9	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:39871611A>T	uc001wvk.2	-	2	1042	c.704T>A	c.(703-705)ATT>AAT	p.I235N		NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	F-box protein 33	235											0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TTACTGTTTAATTTTTTTGCC	0.318													T	39871611	A	T	39871611	3	4	131	1	0	0	0	0	1	0	0	0	5743	101	4	5	975	5	FBXO33	14	39871611	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	81461	39871611	67477929	1465	77640											
KLHL28	54813	broad.mit.edu	37	chr14	45414389	45414389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaagatgtttacaagtgCgatcatcacgaataagatga	8	6	3	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:45414389C>T	uc001wvq.2	-	2	989	c.743G>A	c.(742-744)CGC>CAC	p.R248H	KLHL28_uc001wvr.2_Missense_Mutation_p.R248H|KLHL28_uc001wvt.3_Missense_Mutation_p.R248H	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	248										ovary(1)	1						TTTACAAGTGCGATCATCACG	0.383													T	45414389	C	T	45414389	3	4	131	1	0	0	0	0	1	0	0	0	8382	768	27	1	988	1	KLHL28	14	45414389	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	5542778	45414389	61935151	1466	77641											
FAM179B	23116	broad.mit.edu	37	chr14	45431631	45431631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgacaaccctgcatggcgGctgccccctccgcgctgctt	10	19	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:45431631G>A	uc001wvv.2	+	1	216	c.7G>A	c.(7-9)GCT>ACT	p.A3T	FAM179B_uc001wvw.2_Missense_Mutation_p.A3T|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.A3T|FAM179B_uc001wvu.2_Missense_Mutation_p.A3T	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	3							binding			skin(2)|upper_aerodigestive_tract(1)	3						CTGCATGGCGGCTGCCCCCTC	0.617													A	45431631	G	A	45431631	3	1	131	1	0	0	0	0	1	0	0	0	5506	1203	42	2	9	2	FAM179B	14	45431631	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	17242	45431631	61917909	1467	77642											
FAM179B	23116	broad.mit.edu	37	chr14	45497410	45497410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatttctaaatctacttataAcaagatgagacaaaagagaa	5	5	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:45497410A>G	uc001wvv.2	+	10	3745	c.3536A>G	c.(3535-3537)AAC>AGC	p.N1179S	FAM179B_uc001wvw.2_Missense_Mutation_p.N1179S|FAM179B_uc010anc.2_RNA	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	1179							binding			skin(2)|upper_aerodigestive_tract(1)	3						TCTACTTATAACAAGATGAGA	0.303													G	45497410	A	G	45497410	3	3	131	1	0	0	0	0	1	0	0	0	5506	43	2	3	3574	3	FAM179B	14	45497410	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	65779	45497410	61852130	1468	77643											
FANCM	57697	broad.mit.edu	37	chr14	45605395	45605395	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctcagctggagtcggacgAtgatgtgttgcttgtcgcgg	17	8	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:45605395A>G	uc001wwd.3	+	1	260	c.161A>G	c.(160-162)GAT>GGT	p.D54G	FANCM_uc001wwc.2_Missense_Mutation_p.D54G|FANCM_uc010anf.2_Missense_Mutation_p.D54G|FKBP3_uc010tqf.1_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	54					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						GAGTCGGACGATGATGTGTTG	0.642								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				G	45605395	A	G	45605395	3	3	131	1	0	0	0	0	1	0	0	0	5671	333	12	3	163	3	FANCM	14	45605395	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	107985	45605395	61744145	1469	77644											
C14orf106	55320	broad.mit.edu	37	chr14	45693275	45693275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgaagagtttctttgaCggaaggtctagctttctttt	9	7	4	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:45693275C>T	uc001wwf.2	-	11	2974	c.2515G>A	c.(2515-2517)GTC>ATC	p.V839I		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	839					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						GTTTCTTTGACGGAAGGTCTA	0.368													T	45693275	C	T	45693275	3	4	131	1	0	0	0	0	1	0	0	0	1738	536	19	1	911	1	C14orf106	14	45693275	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	87880	45693275	61656265	1470	77645											
C14orf106	55320	broad.mit.edu	37	chr14	45711515	45711515	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataggaatacaattagtacTgagagtctcagcattagtat	8	5	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:45711515T>C	uc001wwf.2	-	4	1324	c.865A>G	c.(865-867)AGT>GGT	p.S289G	C14orf106_uc010anh.2_RNA	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	289					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						CAATTAGTACTGAGAGTCTCA	0.368													C	45711515	T	C	45711515	3	2	131	1	0	0	0	0	1	0	0	0	1738	1580	55	3	2589	3	C14orf106	14	45711515	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	18240	45711515	61638025	1471	77646											
SOS2	6655	broad.mit.edu	37	chr14	50611935	50611935	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacactgaatttactgcacTgactatctccaatacgccat	5	12	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:50611935T>C	uc001wxs.3	-	16	2718	c.2620A>G	c.(2620-2622)AGT>GGT	p.S874G	SOS2_uc010tql.1_Missense_Mutation_p.S841G|SOS2_uc010tqm.1_RNA	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	874	Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTTACTGCACTGACTATCTCC	0.338													C	50611935	T	C	50611935	3	2	131	1	0	0	0	0	1	0	0	0	14937	1580	55	3	1410	3	SOS2	14	50611935	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	4900420	50611935	56737605	1472	77647											
FRMD6	122786	broad.mit.edu	37	chr14	52178272	52178272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagggaaattgaagcatcGctgactcttggattgaccat	10	7	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:52178272G>A	uc001wzd.2	+	8	1023	c.738G>A	c.(736-738)TCG>TCA	p.S246S	FRMD6_uc001wzb.2_Silent_p.S238S|FRMD6_uc001wzc.2_Silent_p.S238S|FRMD6_uc001wze.2_Silent_p.S169S|FRMD6_uc001wzf.2_5'Flank	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	246	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			ovary(1)|breast(1)|central_nervous_system(1)	3	all_epithelial(31;0.0163)|Breast(41;0.089)					TTGAAGCATCGCTGACTCTTG	0.338													A	52178272	G	A	52178272	2	1	131	1	0	0	0	0	0	0	0	1	6054	1074	38	1		1	FRMD6	14	52178272	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1566337	52178272	55171268	1473	77648											
FERMT2	10979	broad.mit.edu	37	chr14	53360082	53360082	+	Frame_Shift_Del	DEL	T	T	-													actggtcatctagcttcttcTtttttttctttgttggatct							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:53360082delT	uc001xad.2	-	4	510	c.455delA	c.(454-456)AAGfs	p.K152fs	FERMT2_uc001xac.2_Frame_Shift_Del_p.K152fs|FERMT2_uc001xae.2_Frame_Shift_Del_p.K152fs|FERMT2_uc001xaf.2_Frame_Shift_Del_p.K152fs	NM_006832	NP_006823	Q96AC1	FERM2_HUMAN	fermitin family homolog 2 isoform 1	152					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding				0	Breast(41;0.0342)					TAGCTTCTTCTTTTTTTTCTT	0.383													-	53360082	T	-	53360082	7	5	131	1	0	1	0	1	0	0	0	0	5818	1609	56	0	1672	0	FERMT2	14	53360082	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	1181810	53360082	53989458	1474	77649											
PELI2	57161	broad.mit.edu	37	chr14	56645119	56645119	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatttgccctctacaagcgGcccaaggcaaatggtgtcaa	10	11	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:56645119G>A	uc001xch.2	+	2	430	c.144G>A	c.(142-144)CGG>CGA	p.R48R		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	pellino 2	48					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			ovary(1)	1						TCTACAAGCGGCCCAAGGCAA	0.517													A	56645119	G	A	56645119	2	1	131	1	0	0	0	0	0	0	0	1	11722	1190	42	2		2	PELI2	14	56645119	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	3285037	56645119	50704421	1475	77650											
OTX2	5015	broad.mit.edu	37	chr14	57268921	57268921	+	Frame_Shift_Del	DEL	G	G	-													gtcgggactgaggtgctagaGgggggagtgaattggccact							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:57268921delG	uc001xcp.2	-	3	573	c.402delC	c.(400-402)CCCfs	p.P134fs	OTX2_uc010aou.2_Frame_Shift_Del_p.P134fs|OTX2_uc001xcq.2_Frame_Shift_Del_p.P142fs	NM_172337	NP_758840	P32243	OTX2_HUMAN	orthodenticle homeobox 2 isoform b	134			P -> A (in MCOPS5).		axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			ovary(1)	1	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					AGGTGCTAGAGGGGGGAGTGA	0.537													-	57268921	G	-	57268921	7	5	131	1	0	1	0	1	0	0	0	0	11321	987	35	0	471	0	OTX2	14	57268921	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	623802	57268921	50080619	1476	77651											
KIAA0586	9786	broad.mit.edu	37	chr14	58934609	58934610	+	Frame_Shift_Ins	INS	-	-	A													attgtagaaatgaagtcagaINSaaaaaaggatcctcctcagc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:58934608_58934609G>GA	uc010trr.2	+	17	2813_2814	c.2569_2570G>GA	c.(2569-2571)gaafs	p.E857fs	KIAA0586_uc001xdu.4_Frame_Shift_Ins_p.E789fs|KIAA0586_uc010trs.2_Frame_Shift_Ins_p.E719fs|KIAA0586_uc001xdt.4_Frame_Shift_Ins_p.E760fs|KIAA0586_uc001xdv.4_Frame_Shift_Ins_p.E728fs|KIAA0586_uc010trt.2_Frame_Shift_Ins_p.E664fs|KIAA0586_uc010tru.1_Frame_Shift_Ins_p.E664fs	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	728										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AATGAAGTCAGAAAAAAAGGAT	0.386													A	58934610	-	A	58934609	7	5	131	1	0	1	1	0	0	0	0	0	8186	246	9	0	2241	0	KIAA0586	14	58934609	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1665688	58934609	48414931	1477	77652											
DAAM1	23002	broad.mit.edu	37	chr14	59789729	59789729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcattggctgtataaaggCgttaatgaacaactctcaag	8	8	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:59789729C>T	uc001xdz.1	+	6	685	c.560C>T	c.(559-561)GCG>GTG	p.A187V	DAAM1_uc001xea.1_Missense_Mutation_p.A187V|DAAM1_uc001xeb.1_Missense_Mutation_p.A187V	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	187	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TGTATAAAGGCGTTAATGAAC	0.438													T	59789729	C	T	59789729	3	4	131	1	0	0	0	0	1	0	0	0	4215	768	27	1	578	1	DAAM1	14	59789729	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	855120	59789729	47559811	1478	77653											
GPR135	64582	broad.mit.edu	37	chr14	59930994	59930994	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagcgcagcacgcgcgcGtaggtgttcaccggccgcac	14	14	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:59930994G>A	uc010apj.2	-	1	1066	c.951C>T	c.(949-951)TAC>TAT	p.Y317Y	GPR135_uc001xed.2_RNA	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	317	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.134)		GCACGCGCGCGTAGGTGTTCA	0.642													A	59930994	G	A	59930994	2	1	131	1	0	0	0	0	0	0	0	1	6644	1140	40	1		1	GPR135	14	59930994	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	141265	59930994	47418546	1479	77654											
C14orf149	112849	broad.mit.edu	37	chr14	59946072	59946072	+	Splice_Site	DEL	A	A	-													gaacatccaccatgagatctAaaaaaaagatgtgtttggaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:59946071_59946071TA>T	uc001xee.1	-	2	548	c.509_splice	c.e2-1	p.D170_splice	C14orf149_uc010trx.1_Intron	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	Homo sapiens chromosome 14 open reading frame 149 (C14orf149), mRNA.	170							proline racemase activity			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	CCATGAGATCTAAAAAAAAGA	0.333													-	59946072	A	-	59946072	8	5	131	1	0	1	0	1	0	0	1	0	1752	377	13	0		0	C14orf149	14	59946072	Splice_Site	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	15078	59946072	47403468	1480	77655											
PLEKHG3	26030	broad.mit.edu	37	chr14	65207900	65207900	+	Frame_Shift_Del	DEL	C	C	-													cagggccttctggggatggaCcccccaggtgacatggtgga							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:65207899_65207899AC>A	uc001xhp.2	+	15	2066	c.2027_2027AC>A	c.(2026-2028)gacfs	p.D676fs	PLEKHG3_uc001xhn.1_Frame_Shift_Del_p.D499fs|PLEKHG3_uc001xho.1_Frame_Shift_Del_p.D555fs|PLEKHG3_uc010aqh.1_Frame_Shift_Del_p.D97fs|PLEKHG3_uc001xhq.1_Frame_Shift_Del_p.D60fs	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	555					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CTGGGGATGGACCCCCCAGGT	0.612													-	65207900	C	-	65207900	7	5	131	1	0	1	0	1	0	0	0	0	12070	506	18	0	1547	0	PLEKHG3	14	65207900	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	5261828	65207900	42141640	1481	77656											
DCAF5	8816	broad.mit.edu	37	chr14	69521952	69521952	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtggtgacccgcaggggcCccaggtggaaggcgttgtcg	19	10	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:69521952C>A	uc001xkp.2	-	9	1670	c.1451G>T	c.(1450-1452)GGG>GTG	p.G484V	DCAF5_uc001xkq.2_Missense_Mutation_p.G483V	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	484						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2						CCGCAGGGGCCCCAGGTGGAA	0.627													A	69521952	C	A	69521952	3	1	131	1	0	0	0	0	1	0	0	0	4273	623	22	5	1381	5	DCAF5	14	69521952	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4314052	69521952	37827588	1482	77657											
GALNTL1	57452	broad.mit.edu	37	chr14	69800300	69800300	+	Frame_Shift_Del	DEL	G	G	-													tgatgcccagatggacatctGggggggagagaattttggtg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:69800299_69800299TG>T	uc001xlb.2	+	8	1276	c.949_949TG>T	c.(949-951)tggfs	p.W317fs	GALNTL1_uc001xla.2_Frame_Shift_Del_p.W317fs|GALNTL1_uc010aqu.2_Frame_Shift_Del_p.W317fs	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	317	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		GATGGACATCTGGGGGGGAGA	0.473													-	69800300	G	-	69800300	7	5	131	1	0	1	0	1	0	0	0	0	6221	1357	47	0	984	0	GALNTL1	14	69800300	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	278348	69800300	37549240	1483	77658											
MAP3K9	4293	broad.mit.edu	37	chr14	71199761	71199761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccaggggaagcagctgGcacttgccagcttccagcaa	11	14	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:71199761G>A	uc001xmm.2	-	11	2325	c.2325C>T	c.(2323-2325)TGC>TGT	p.C775C	MAP3K9_uc010ttk.1_Silent_p.C503C|MAP3K9_uc001xmk.2_Silent_p.C508C|MAP3K9_uc001xml.2_Silent_p.C789C	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	775					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAAGCAGCTGGCACTTGCCAG	0.652													A	71199761	G	A	71199761	2	1	131	1	0	0	0	0	0	0	0	1	9257	1195	42	2		2	MAP3K9	14	71199761	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1399461	71199761	36149779	1484	77659											
PCNX	22990	broad.mit.edu	37	chr14	71444403	71444403	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccagtgacaaaaggactaGcagtgaaaagattgctatgg	12	6	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:71444403G>T	uc001xmo.2	+	6	1795	c.1349G>T	c.(1348-1350)AGC>ATC	p.S450I	PCNX_uc001xmn.3_Missense_Mutation_p.S450I|PCNX_uc010are.1_Missense_Mutation_p.S450I	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	450						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AAAAGGACTAGCAGTGAAAAG	0.522													T	71444403	G	T	71444403	3	4	131	1	0	0	0	0	1	0	0	0	11591	971	34	5	1371	5	PCNX	14	71444403	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	244642	71444403	35905137	1485	77660											
SIPA1L1	26037	broad.mit.edu	37	chr14	72090950	72090951	+	Frame_Shift_Ins	INS	-	-	G													tcatgaaactggatgaacaaINSggggtgagtttgcctttctg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:72090950_72090951insG	uc001xms.2	+	4	2163_2164	c.1815_1816insG	c.(1813-1818)CAAGGGfs	p.Q605fs	SIPA1L1_uc001xmt.2_Frame_Shift_Ins_p.Q605fs|SIPA1L1_uc001xmu.2_Frame_Shift_Ins_p.Q605fs|SIPA1L1_uc001xmv.2_Frame_Shift_Ins_p.Q605fs|SIPA1L1_uc010ttm.1_Frame_Shift_Ins_p.Q80fs	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	605_606					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGGATGAACAAGGGGTGAGTTT	0.48													G	72090951	-	G	72090950	7	5	131	1	0	1	1	0	0	0	0	0	14329	69	3	0	1825	0	SIPA1L1	14	72090950	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	646547	72090950	35258590	1486	77661	374	2									
SIPA1L1	26037	broad.mit.edu	37	chr14	72090951	72090952	+	Frame_Shift_Ins	INS	-	-	G													catgaaactggatgaacaagINSgggtgagtttgcctttctga							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:72090950_72090951A>AG	uc001xms.3	+	3	2176_2177	c.1815_1816A>AG	c.(1813-1818)caagggfs	p.Q605fs	SIPA1L1_uc001xmt.3_Frame_Shift_Ins_p.Q605fs|SIPA1L1_uc001xmu.3_Frame_Shift_Ins_p.Q605fs|SIPA1L1_uc001xmv.3_Frame_Shift_Ins_p.Q605fs|SIPA1L1_uc010ttm.2_Frame_Shift_Ins_p.Q80fs	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	605					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.Q605E(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGGATGAACAAGGGGTGAGTTT	0.48													G	72090952	-	G	72090951	7	5	131	1	0	1	1	0	0	0	0	0	14329	1000	35	0	1826	0	SIPA1L1	14	72090951	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	72090951	35258589	1487	77662	374	2									
C14orf169	79697	broad.mit.edu	37	chr14	73958888	73958888	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgagccggtgctgcagacCgtgctggaacctggagattt	16	9	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:73958888C>T	uc001xok.1	+	3	1246	c.1167C>T	c.(1165-1167)ACC>ACT	p.T389T	HEATR4_uc010tua.1_Intron	NM_024644	NP_078920	Q9H6W3	NO66_HUMAN	chromosome 14 open reading frame 169	389	JmjC.				negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215)		TGCTGCAGACCGTGCTGGAAC	0.577													T	73958888	C	T	73958888	2	4	131	1	0	0	0	0	0	0	0	1	1758	652	23	1		1	C14orf169	14	73958888	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1867937	73958888	33390652	1488	77663											
HEATR4	399671	broad.mit.edu	37	chr14	73989186	73989186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggggatgccccaggccttCgaggacgcttgctctggatc	15	12	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:73989186C>T	uc010tub.1	-	3	993	c.671G>A	c.(670-672)CGA>CAA	p.R224Q	HEATR4_uc010tua.1_Missense_Mutation_p.R177Q	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)		CCCAGGCCTTCGAGGACGCTT	0.612													T	73989186	C	T	73989186	3	4	131	1	0	0	0	0	1	0	0	0	7030	884	31	1	2473	1	HEATR4	14	73989186	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	30298	73989186	33360354	1489	77664											
C14orf43	91748	broad.mit.edu	37	chr14	74205773	74205773	+	Frame_Shift_Del	DEL	G	G	-													tctgggttcatatctgggttGggggggaaggggtagggtgc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:74205772_74205772TG>T	uc010tud.1	-	0	1187	c.940_940CA>A	c.(940-942)aacfs	p.N314fs	C14orf43_uc001xot.3_Frame_Shift_Del_p.N314fs|C14orf43_uc001xou.3_Frame_Shift_Del_p.N314fs|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	314	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		ATATCTGGGTTGGGGGGGAAG	0.667													-	74205773	G	-	74205773	7	5	131	1	0	1	0	1	0	0	0	0	1774	1335	47	0	2242	0	C14orf43	14	74205773	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	216587	74205773	33143767	1490	77665											
LTBP2	4053	broad.mit.edu	37	chr14	74975410	74975410	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgtggggtgcgcagtgctcCtcccccatgcactcattcac	10	17	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:74975410C>A	uc001xqa.2	-	24	3936	c.3549G>T	c.(3547-3549)GAG>GAT	p.E1183D		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1183	Cys-rich.|EGF-like 12; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CGCAGTGCTCCTCCCCCATGC	0.652													A	74975410	C	A	74975410	3	1	131	1	0	0	0	0	1	0	0	0	9074	680	24	5	1968	5	LTBP2	14	74975410	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	769637	74975410	32374130	1491	77666											
LTBP2	4053	broad.mit.edu	37	chr14	74995223	74995223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcctcaagccaggtgtcCgtgacgacccggaggggctg	16	14	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:74995223C>T	uc001xqa.2	-	12	2718	c.2331G>A	c.(2329-2331)ACG>ACA	p.T777T		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	777					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCCAGGTGTCCGTGACGACCC	0.647													T	74995223	C	T	74995223	2	4	131	1	0	0	0	0	0	0	0	1	9074	639	23	1		1	LTBP2	14	74995223	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	19813	74995223	32354317	1492	77667											
C14orf4	64207	broad.mit.edu	37	chr14	77492225	77492225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccatccttgggcgagtgCgctgtgcccagagtatctgc	13	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:77492225C>T	uc001xsy.2	-	1	2810	c.1911G>A	c.(1909-1911)GCG>GCA	p.A637A		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	chromosome 14 open reading frame 4	637						nucleus					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)		TGGGCGAGTGCGCTGTGCCCA	0.682													T	77492225	C	T	77492225	2	4	131	1	0	0	0	0	0	0	0	1	1773	755	27	1		1	C14orf4	14	77492225	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2497002	77492225	29857315	1493	77668											
AHSA1	10598	broad.mit.edu	37	chr14	77935587	77935587	+	Frame_Shift_Del	DEL	T	T	-													ttggctatggcgcacgcttaTtttagggccagcggcagggg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:77935587delT	uc001xtw.2	+	9	1172	c.1012delT	c.(1012-1014)TTTfs	p.F338fs		NM_012111	NP_036243	O95433	AHSA1_HUMAN	activator of heat shock 90kDa protein ATPase	338					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CGCACGCTTATTTTAGGGCCA	0.597													-	77935587	T	-	77935587	7	5	131	1	0	1	0	1	0	0	0	0	418	1493	52	0	1046	0	AHSA1	14	77935587	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	443362	77935587	29413953	1494	77669											
ALKBH1	8846	broad.mit.edu	37	chr14	78174328	78174328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcgccacagagcccacgGccgctgccatcttccccatc	9	19	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:78174328G>A	uc001xuc.1	-	1	29	c.20C>T	c.(19-21)GCC>GTC	p.A7V	ALKBH1_uc001xud.1_RNA|C14orf156_uc001xue.3_5'Flank	NM_006020	NP_006011	Q13686	ALKB1_HUMAN	alkylated DNA repair protein alkB homolog	7					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(1)|skin(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		AGAGCCCACGGCCGCTGCCAT	0.637													A	78174328	G	A	78174328	3	1	131	1	0	0	0	0	1	0	0	0	526	1203	42	2	1173	2	ALKBH1	14	78174328	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	238741	78174328	29175212	1495	77670											
NRXN3	9369	broad.mit.edu	37	chr14	80328229	80328229	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcccagagcaacggcacGctcatgaaggagaagcagca	12	13	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:80328229G>A	uc001xun.2	+	17	3599	c.3108G>A	c.(3106-3108)ACG>ACA	p.T1036T	NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Silent_p.T612T|NRXN3_uc010asw.2_Silent_p.T434T|NRXN3_uc001xur.3_Silent_p.T407T	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1618	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCAACGGCACGCTCATGAAGG	0.532													A	80328229	G	A	80328229	2	1	131	1	0	0	0	0	0	0	0	1	10667	1074	38	1		1	NRXN3	14	80328229	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2153901	80328229	27021311	1496	77671											
TSHR	7253	broad.mit.edu	37	chr14	81610526	81610526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctcaggcataccggggGcagagggttcctccaaagaa	14	11	1	2	rs145012289	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:81610526G>A	uc001xvd.1	+	10	2280	c.2124G>A	c.(2122-2124)GGG>GGA	p.G708G		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	708	Cytoplasmic (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CATACCGGGGGCAGAGGGTTC	0.493			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 						A	81610526	G	A	81610526	2	1	131	1	0	0	0	0	0	0	0	1	16619	1190	42	2		2	TSHR	14	81610526	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1282297	81610526	25739014	1497	77672											
FOXN3	1112	broad.mit.edu	37	chr14	89878419	89878419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatatccttcactggcagGcgcttggttggagagtcctc	12	10	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:89878419G>A	uc001xxo.3	-	2	539	c.402C>T	c.(400-402)CGC>CGT	p.R134R	FOXN3_uc001xxn.3_Silent_p.R134R|FOXN3_uc010atk.2_Silent_p.R134R|FOXN3_uc001xxp.2_Silent_p.R134R	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	checkpoint suppressor 1 isoform 1	134	Fork-head.				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(2)|ovary(1)	3						TCACTGGCAGGCGCTTGGTTG	0.483													A	89878419	G	A	89878419	2	1	131	1	0	0	0	0	0	0	0	1	6021	1190	42	2		2	FOXN3	14	89878419	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	8267893	89878419	17471121	1498	77673											
TTC7B	145567	broad.mit.edu	37	chr14	91142998	91142998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctcagcacagcgtcccGgttggcctgaaaaaacatgg	11	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:91142998G>A	uc001xyp.2	-	9	1143	c.1021C>T	c.(1021-1023)CGG>TGG	p.R341W	TTC7B_uc010ats.2_RNA	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	341							binding			ovary(2)	2		Melanoma(154;0.222)				ACAGCGTCCCGGTTGGCCTGA	0.537													A	91142998	G	A	91142998	3	1	131	1	0	0	0	0	1	0	0	0	16710	1115	39	1	1558	1	TTC7B	14	91142998	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1264579	91142998	16206542	1499	77674											
CCDC88C	440193	broad.mit.edu	37	chr14	91779774	91779774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccgccgcagcgcctggcGctcagcctccagctcgccca	11	21	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:91779774G>A	uc010aty.2	-	15	2485	c.2386C>T	c.(2386-2388)CGC>TGC	p.R796C		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	796	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				AGCGCCTGGCGCTCAGCCTCC	0.687													A	91779774	G	A	91779774	3	1	131	1	0	0	0	0	1	0	0	0	2865	1087	38	1	3764	1	CCDC88C	14	91779774	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	636776	91779774	15569766	1500	77675											
FBLN5	10516	broad.mit.edu	37	chr14	92347755	92347755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttcctgtgctcacattcGttgatgtctgaaatgcaggg	12	8	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:92347755G>A	uc001xzx.3	-	9	1343	c.870C>T	c.(868-870)AAC>AAT	p.N290N	FBLN5_uc010aud.2_Silent_p.N295N|FBLN5_uc010aue.2_Silent_p.N331N	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	fibulin 5 precursor	290	EGF-like 6; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		all_cancers(154;0.0722)				GCTCACATTCGTTGATGTCTG	0.547													A	92347755	G	A	92347755	2	1	131	1	0	0	0	0	0	0	0	1	5700	1136	40	1		1	FBLN5	14	92347755	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	567981	92347755	15001785	1501	77676											
FAM181A	90050	broad.mit.edu	37	chr14	94394791	94394791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctcccagaagtattccCggctcccgcggggccttcct	10	17	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:94394791C>T	uc001ybz.1	+	3	653	c.346C>T	c.(346-348)CGG>TGG	p.R116W	C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Missense_Mutation_p.R54W|FAM181A_uc001yca.1_Missense_Mutation_p.R54W	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN	hypothetical protein LOC90050	116											0						GAAGTATTCCCGGCTCCCGCG	0.637													T	94394791	C	T	94394791	3	4	131	1	0	0	0	0	1	0	0	0	5508	643	23	1	352	1	FAM181A	14	94394791	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2047036	94394791	12954749	1502	77677											
SERPINA11	256394	broad.mit.edu	37	chr14	94915004	94915004	+	Frame_Shift_Del	DEL	G	G	-													ggctctgagagctgatgcctGgggggttgaggcccctgcag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:94915004delG	uc001ydd.1	-	2	168	c.108delC	c.(106-108)CCCfs	p.P36fs		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1	36					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)	1				COAD - Colon adenocarcinoma(157;0.211)		GCTGATGCCTGGGGGGTTGAG	0.567													-	94915004	G	-	94915004	7	5	131	1	0	1	0	1	0	0	0	0	14088	1335	47	0	1176	0	SERPINA11	14	94915004	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	520213	94915004	12434536	1503	77678											
DEGS2	123099	broad.mit.edu	37	chr14	100615484	100615484	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcccaggcccaggaaggAgctggccagcaggtagacca	15	13	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:100615484A>C	uc001ygx.2	-	2	734	c.646T>G	c.(646-648)TCC>GCC	p.S216A		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	degenerative spermatocyte homolog 2, lipid	216	Helical; (Potential).				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity				0		Melanoma(154;0.212)				CCCAGGAAGGAGCTGGCCAGC	0.647													C	100615484	A	C	100615484	3	2	131	1	0	0	0	0	1	0	0	0	4423	304	11	5	333	5	DEGS2	14	100615484	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	5700480	100615484	6734056	1504	77679											
WDR25	79446	broad.mit.edu	37	chr14	100992378	100992378	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccaaccagattttccacGtaagaaatcccatttggcat	5	12	1	2	rs142505900		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:100992378G>A	uc010avx.2	+	5	1365	c.1272_splice	c.e5+1	p.H424_splice	WDR25_uc001yhm.2_Splice_Site_p.H416_splice|WDR25_uc001yhn.2_Splice_Site_p.H424_splice|WDR25_uc010avy.2_Splice_Site|WDR25_uc001yho.2_Splice_Site_p.H167_splice	NM_001161476	NP_001154948	Q64LD2	WDR25_HUMAN	WD repeat domain 25												0		Melanoma(154;0.212)				GATTTTCCACGTAAGAAATCC	0.542													A	100992378	G	A	100992378	5	1	131	1	0	0	0	0	0	0	1	0	17279	1159	40	1	1287	1	WDR25	14	100992378	Splice_Site	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	376894	100992378	6357162	1505	77680											
PPP2R5C	5527	broad.mit.edu	37	chr14	102372842	102372842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtttccttccttgtaccGcaactcaaagacccattgga	6	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:102372842G>A	uc001yko.2	+	10	1267	c.1127G>A	c.(1126-1128)CGC>CAC	p.R376H	PPP2R5C_uc010txr.1_Missense_Mutation_p.R407H|PPP2R5C_uc001ykk.2_Missense_Mutation_p.R431H|PPP2R5C_uc010txt.1_Missense_Mutation_p.R366H|PPP2R5C_uc001ykn.2_Missense_Mutation_p.R376H|PPP2R5C_uc001ykp.2_Missense_Mutation_p.R376H|PPP2R5C_uc001ykq.2_Intron	NM_002719	NP_002710	Q13362	2A5G_HUMAN	gamma isoform of regulatory subunit B56, protein	376					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity			ovary(1)|breast(1)	2						TCCTTGTACCGCAACTCAAAG	0.398													A	102372842	G	A	102372842	3	1	131	1	0	0	0	0	1	0	0	0	12394	1087	38	1	1534	1	PPP2R5C	14	102372842	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1380464	102372842	4976698	1506	77681											
DYNC1H1	1778	broad.mit.edu	37	chr14	102476662	102476662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccattatgacttcggtcttCgggctttgaagagtgtgctg	13	8	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:102476662C>T	uc001yks.2	+	31	6435	c.6271C>T	c.(6271-6273)CGG>TGG	p.R2091W		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2091	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CTTCGGTCTTCGGGCTTTGAA	0.428													T	102476662	C	T	102476662	3	4	131	1	0	0	0	0	1	0	0	0	4841	875	31	1	6393	1	DYNC1H1	14	102476662	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	103820	102476662	4872878	1507	77682											
TECPR2	9895	broad.mit.edu	37	chr14	102918829	102918829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgcagctgcctcccgaaGccgagatgcgcgcctatgcc	13	16	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:102918829G>A	uc001ylw.1	+	16	3653	c.3505G>A	c.(3505-3507)GCC>ACC	p.A1169T	TECPR2_uc010awl.2_Missense_Mutation_p.A1169T|TECPR2_uc010txx.1_Missense_Mutation_p.A332T	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1169							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						GCCTCCCGAAGCCGAGATGCG	0.682													A	102918829	G	A	102918829	3	1	131	1	0	0	0	0	1	0	0	0	15741	971	34	2	3563	2	TECPR2	14	102918829	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	442167	102918829	4430711	1508	77683											
C14orf73	91828	broad.mit.edu	37	chr14	103566847	103566847	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatgacggcccagctacCggccattcccaggccactcc	9	18	0	2	rs147118623		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:103566847C>T	uc001ymk.2	+	1	367	c.291C>T	c.(289-291)ACC>ACT	p.T97T		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	hypothetical protein LOC91828	97											0		Melanoma(154;0.155)	Epithelial(46;0.221)			GCCCAGCTACCGGCCATTCCC	0.632													T	103566847	C	T	103566847	2	4	131	1	0	0	0	0	0	0	0	1	1779	639	23	1		1	C14orf73	14	103566847	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	648018	103566847	3782693	1509	77684											
C14orf73	91828	broad.mit.edu	37	chr14	103574001	103574001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcaccggttcgtggtcCgcgagtacctggcgcgggcg	18	12	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:103574001C>T	uc001ymk.2	+	9	1811	c.1735C>T	c.(1735-1737)CGC>TGC	p.R579C		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	hypothetical protein LOC91828	579											0		Melanoma(154;0.155)	Epithelial(46;0.221)			GTTCGTGGTCCGCGAGTACCT	0.602													T	103574001	C	T	103574001	3	4	131	1	0	0	0	0	1	0	0	0	1779	652	23	1	1769	1	C14orf73	14	103574001	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	7154	103574001	3775539	1510	77685											
EIF5	1983	broad.mit.edu	37	chr14	103803484	103803484	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagcaaacaataggtaAttcttgtaaagcctgtggct	9	6	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:103803484A>T	uc001ymq.2	+	6	881	c.359A>T	c.(358-360)AAT>ATT	p.N120I	EIF5_uc001ymr.2_Missense_Mutation_p.N120I|EIF5_uc001yms.2_Missense_Mutation_p.N120I|EIF5_uc001ymt.2_Missense_Mutation_p.N120I|EIF5_uc001ymu.2_Missense_Mutation_p.N120I|SNORA28_uc001ymv.1_5'Flank	NM_001969	NP_001960	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	120					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			pancreas(1)|breast(1)|skin(1)	3		Melanoma(154;0.155)	Epithelial(46;0.182)			ACAATAGGTAATTCTTGTAAA	0.368													T	103803484	A	T	103803484	3	4	131	1	0	0	0	0	1	0	0	0	5040	101	4	5	373	5	EIF5	14	103803484	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	229483	103803484	3546056	1511	77686											
MARK3	4140	broad.mit.edu	37	chr14	103934416	103934416	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaatctttcacttgctaAggttaggccgagcagtgatc	10	10	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:103934416A>G	uc001ymz.3	+	12	1823	c.1157A>G	c.(1156-1158)AAG>AGG	p.K386R	MARK3_uc001ymx.3_Missense_Mutation_p.K386R|MARK3_uc001ymw.3_Missense_Mutation_p.K386R|MARK3_uc001yna.3_Splice_Site_p.V371_splice|MARK3_uc001ymy.3_Missense_Mutation_p.K307R|MARK3_uc010awp.2_Missense_Mutation_p.K409R|MARK3_uc010tyb.1_Splice_Site_p.V182_splice	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	386							ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|stomach(1)	4		Melanoma(154;0.155)	Epithelial(46;0.241)			TCACTTGCTAAGGTTAGGCCG	0.443													G	103934416	A	G	103934416	3	3	131	1	0	0	0	0	1	0	0	0	9314	86	3	3	1203	3	MARK3	14	103934416	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	130932	103934416	3415124	1512	77687											
C14orf180	400258	broad.mit.edu	37	chr14	105054178	105054178	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagaggacctcgaggcgCgtgtggttccgagaaccccc	13	16	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:105054178C>T	uc001yow.1	+	3	505	c.204C>T	c.(202-204)CGC>CGT	p.R68R	C14orf180_uc010tyh.1_Silent_p.R68R|C14orf180_uc010awy.1_Silent_p.R68R	NM_001008404	NP_001008404	Q8N912	CN180_HUMAN	hypothetical protein LOC400258	68						integral to membrane					0		Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)		CCTCGAGGCGCGTGTGGTTCC	0.677													T	105054178	C	T	105054178	2	4	131	1	0	0	0	0	0	0	0	1	1763	755	27	1		1	C14orf180	14	105054178	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1119762	105054178	2295362	1513	77688											
KIAA0284	283638	broad.mit.edu	37	chr14	105352923	105352923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcccacgtggagcaggggtCggcgctcaccaagggccccc	16	16	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:105352923C>T	uc010axb.2	+	12	2571	c.2347C>T	c.(2347-2349)CGG>TGG	p.R783W	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.R713W|KIAA0284_uc001yps.2_Missense_Mutation_p.R689W|KIAA0284_uc001ypt.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	783						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GAGCAGGGGTCGGCGCTCACC	0.692													T	105352923	C	T	105352923	3	4	131	1	0	0	0	0	1	0	0	0	8166	875	31	1	2389	1	KIAA0284	14	105352923	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	298745	105352923	1996617	1514	77689											
CDCA4	55038	broad.mit.edu	37	chr14	105478046	105478046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgccacgtcccatcctgcGtcatctcctcttggatctgc	8	17	4	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:105478046G>A	uc001yqa.2	-	2	317	c.221C>T	c.(220-222)ACG>ATG	p.T74M	CDCA4_uc001yqb.2_Missense_Mutation_p.T74M	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	74	SERTA.					nucleus				ovary(1)	1		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		CCCATCCTGCGTCATCTCCTC	0.642													A	105478046	G	A	105478046	3	1	131	1	0	0	0	0	1	0	0	0	3088	1145	40	1	508	1	CDCA4	14	105478046	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	125123	105478046	1871494	1515	77690											
GPR132	29933	broad.mit.edu	37	chr14	105518286	105518286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagcgccagccacgcaGtcaggcagttggccggcacc	14	16	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:105518286G>A	uc001yqd.2	-	4	1087	c.188C>T	c.(187-189)ACT>ATT	p.T63I	GPR132_uc001yqc.2_5'UTR|GPR132_uc001yqe.2_Missense_Mutation_p.T54I	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	63	Helical; Name=1; (Potential).				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CAGCCACGCAGTCAGGCAGTT	0.642													A	105518286	G	A	105518286	3	1	131	1	0	0	0	0	1	0	0	0	6642	1029	36	4	958	4	GPR132	14	105518286	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	40240	105518286	1831254	1516	77691											
JAG2	3714	broad.mit.edu	37	chr14	105612833	105612833	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcaggatctcccgaacccGatcactgtggggagaagggg	15	11	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:105612833G>A	uc001yqg.2	-	22	3002	c.2598C>T	c.(2596-2598)ATC>ATT	p.I866I	JAG2_uc010axf.2_5'UTR|JAG2_uc001yqf.2_Silent_p.I270I|JAG2_uc001yqh.2_Silent_p.I828I	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	866	Extracellular (Potential).				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			lung(3)|breast(2)	5		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCCCGAACCCGATCACTGTGG	0.682													A	105612833	G	A	105612833	2	1	131	1	0	0	0	0	0	0	0	1	7935	1048	37	1		1	JAG2	14	105612833	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	94547	105612833	1736707	1517	77692											
BTBD6	90135	broad.mit.edu	37	chr14	105716436	105716436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctagaggagtttgccaaCggcgctgcccagtcagacat	11	13	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr14:105716436C>T	uc010tyq.1	+	5	993	c.885C>T	c.(883-885)AAC>AAT	p.N295N	BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc010axg.1_Intron|BRF1_uc001yqp.2_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank	NM_033271	NP_150374	Q96KE9	BTBD6_HUMAN	BTB domain protein BDPL	295						cytoplasmic mRNA processing body					0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		AGTTTGCCAACGGCGCTGCCC	0.597													T	105716436	C	T	105716436	2	4	131	1	0	0	0	0	0	0	0	1	1545	535	19	1		1	BTBD6	14	105716436	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	103603	105716436	1633104	1518	77693											
OR4M2	390538	broad.mit.edu	37	chr15	22369050	22369050	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcattcattctatcataCaggtggctctcattgttcga	7	10	5	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:22369050C>T	uc010tzu.1	+	1	475	c.475C>T	c.(475-477)CAG>TAG	p.Q159*	LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	159	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTCTATCATACAGGTGGCTCT	0.507													T	22369050	C	T	22369050	4	4	131	1	0	0	0	0	0	1	0	0	11076	479	17	4	477	4	OR4M2	15	22369050	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08		22369050	80162342	1519	77694											
NIPA1	123606	broad.mit.edu	37	chr15	23049010	23049010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggccagcaggaccagcGtggtaaacacgacgtagtag	14	10	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:23049010G>A	uc001yvc.2	-	5	834	c.809C>T	c.(808-810)ACG>ATG	p.T270M	NIPA1_uc001yvd.2_Missense_Mutation_p.T100M|NIPA1_uc001yve.2_Missense_Mutation_p.T195M	NM_144599	NP_653200	Q7RTP0	NIPA1_HUMAN	non-imprinted in Prader-Willi/Angelman syndrome	270	Helical; (Potential).				cell death	early endosome|integral to membrane|plasma membrane					0		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CAGGACCAGCGTGGTAAACAC	0.602													A	23049010	G	A	23049010	3	1	131	1	0	0	0	0	1	0	0	0	10422	1145	40	1	184	1	NIPA1	15	23049010	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	679960	23049010	79482382	1520	77695											
ATP10A	57194	broad.mit.edu	37	chr15	25925385	25925385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatagcacgtggcacaagacGcattgtaaatcaaagccacg	10	10	1	1	rs146387652		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:25925385G>A	uc010ayu.2	-	20	3855	c.3749C>T	c.(3748-3750)GCG>GTG	p.A1250V		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1250	Extracellular (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGCACAAGACGCATTGTAAAT	0.493													A	25925385	G	A	25925385	3	1	131	1	0	0	0	0	1	0	0	0	1116	1087	38	1	758	1	ATP10A	15	25925385	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2876375	25925385	76606007	1521	77696											
ATP10A	57194	broad.mit.edu	37	chr15	25958891	25958891	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtagacgttgatctcatcGgtaagcgggtgccggatcac	14	9	2	2	rs139578740		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:25958891G>A	uc010ayu.2	-	10	2380	c.2274C>T	c.(2272-2274)ACC>ACT	p.T758T		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	758	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGATCTCATCGGTAAGCGGGT	0.617													A	25958891	G	A	25958891	2	1	131	1	0	0	0	0	0	0	0	1	1116	1103	39	1		1	ATP10A	15	25958891	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	33506	25958891	76572501	1522	77697											
GABRA5	2558	broad.mit.edu	37	chr15	27188486	27188486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgccttcgtcttctcggcGctgatagagtttgccacggt	11	11	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:27188486G>A	uc001zbd.1	+	11	1341	c.1002G>A	c.(1000-1002)GCG>GCA	p.A334A	GABRA5_uc001zbe.1_5'Flank	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	334	Helical; (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTTCTCGGCGCTGATAGAGT	0.542													A	27188486	G	A	27188486	2	1	131	1	0	0	0	0	0	0	0	1	6164	1074	38	1		1	GABRA5	15	27188486	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1229595	27188486	75342906	1523	77698											
HERC2	8924	broad.mit.edu	37	chr15	28437159	28437159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcgctgccgtcaatgagaCgggatgcctggttcacggag	15	11	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:28437159C>T	uc001zbj.2	-	53	8505	c.8399G>A	c.(8398-8400)CGT>CAT	p.R2800H	HERC2_uc001zbk.1_Missense_Mutation_p.R335H	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2800	DOC.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTCAATGAGACGGGATGCCTG	0.597											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	28437159	C	T	28437159	3	4	131	1	0	0	0	0	1	0	0	0	7058	536	19	1	6269	1	HERC2	15	28437159	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1248673	28437159	74094233	1524	77699											
MTMR15	22909	broad.mit.edu	37	chr15	31196885	31196887	+	In_Frame_Del	DEL	CCT	CCT	-													tcatgatgtcagaagggaaaCctcctgacaaaaaaaggcct							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:31196885_31196887delCCT	uc001zff.2	+	2	310_312	c.19_21delCCT	c.(19-21)CCTdel	p.P8del	MTMR15_uc001zfc.3_In_Frame_Del_p.P8del|MTMR15_uc010azw.2_In_Frame_Del_p.P8del|MTMR15_uc001zfd.3_In_Frame_Del_p.P8del|MTMR15_uc001zfe.2_5'UTR	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	8					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		AGAAGGGAAACCTCCTGACAAAA	0.34								Direct_reversal_of_damage|Editing_and_processing_nucleases					-	31196887	CCT	-	31196885	7	5	131	1	0	1	0	1	0	0	0	0	9943	507	18	0	21	0	MTMR15	15	31196885	In_Frame_Del	DEL	CCT	TCGA-BR-A4QL-01A-31D-A25D-08	2759726	31196885	71334507	1525	77700											
RYR3	6263	broad.mit.edu	37	chr15	33858966	33858966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggctgctcggatcatcCggaacactacagccttattc	8	15	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:33858966C>T	uc001zhi.2	+	12	1304	c.1234C>T	c.(1234-1236)CGG>TGG	p.R412W	RYR3_uc010bar.2_Missense_Mutation_p.R412W	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	412	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCGGATCATCCGGAACACTAC	0.537													T	33858966	C	T	33858966	3	4	131	1	0	0	0	0	1	0	0	0	13770	643	23	1	1280	1	RYR3	15	33858966	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2662081	33858966	68672426	1526	77701											
GOLGA8A	23015	broad.mit.edu	37	chr15	34673720	34673720	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctcaccaaggagctgcacGactggctgtgcagtagggtt	13	10	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:34673720G>A	uc001zii.2	-	16	1813	c.1704C>T	c.(1702-1704)GTC>GTT	p.V568V	GOLGA8A_uc001zih.2_Silent_p.V424V|uc001zil.2_5'Flank	NM_181077	NP_851422	A7E2F4	GOG8A_HUMAN	golgi autoantigen, golgin subfamily a, 8A	596	Golgi-targeting domain (By similarity).			V -> I (in Ref. 1; AAF28463, 2; BAA74878, 4; AAI44610/AAI50330/AAI52411 and 5; CAH18214).		Golgi cisterna membrane					0		all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GGAGCTGCACGACTGGCTGTG	0.592													A	34673720	G	A	34673720	2	1	131	1	0	0	0	0	0	0	0	1	6563	1045	37	1		1	GOLGA8A	15	34673720	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	814754	34673720	67857672	1527	77702											
MEIS2	4212	broad.mit.edu	37	chr15	37375970	37375970	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaatgtttgaccttttAccttgctcactgctgttgtc	8	9	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:37375970A>G	uc001zjr.2	-	7	1791	c.754_splice	c.e7+1	p.G252_splice	MEIS2_uc001zjl.2_Splice_Site_p.G239_splice|MEIS2_uc010ucj.1_Splice_Site_p.G239_splice|MEIS2_uc001zjm.2_Splice_Site_p.G164_splice|MEIS2_uc001zjn.2_Splice_Site_p.G106_splice|MEIS2_uc001zjo.2_Splice_Site_p.G252_splice|MEIS2_uc001zjp.2_Splice_Site_p.G252_splice|MEIS2_uc001zjs.2_Splice_Site_p.G252_splice|MEIS2_uc001zju.2_Splice_Site_p.G239_splice|MEIS2_uc001zjt.2_Splice_Site_p.G252_splice	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c						negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)	2		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TTGACCTTTTACCTTGCTCAC	0.502													G	37375970	A	G	37375970	5	3	131	1	0	0	0	0	0	0	1	0	9468	405	14	3	764	3	MEIS2	15	37375970	Splice_Site	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	2702250	37375970	65155422	1528	77703											
PLCB2	5330	broad.mit.edu	37	chr15	40590816	40590816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaatgattgagtggctgcGtcatgtcgtggtggagcagc	16	6	1	2	rs143144314	by1000genomes	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:40590816G>A	uc001zld.2	-	10	1245	c.944C>T	c.(943-945)ACG>ATG	p.T315M	PLCB2_uc010bbo.2_Missense_Mutation_p.T315M|PLCB2_uc010ucm.1_Missense_Mutation_p.T315M	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	315	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GAGTGGCTGCGTCATGTCGTG	0.572													A	40590816	G	A	40590816	3	1	131	1	0	0	0	0	1	0	0	0	12028	1145	40	1	2705	1	PLCB2	15	40590816	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	3214846	40590816	61940576	1529	77704											
DISP2	85455	broad.mit.edu	37	chr15	40659533	40659533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtgctcccagagtagtgCcatctaccaactcctgcact	7	15	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:40659533C>T	uc001zlk.1	+	8	1309	c.1220C>T	c.(1219-1221)GCC>GTC	p.A407V		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	407					smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CAGAGTAGTGCCATCTACCAA	0.577													T	40659533	C	T	40659533	3	4	131	1	0	0	0	0	1	0	0	0	4540	739	26	2	1250	2	DISP2	15	40659533	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	68717	40659533	61871859	1530	77705											
DISP2	85455	broad.mit.edu	37	chr15	40661144	40661144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacctccaggcctccgccGtggttggttcactagccgtc	12	16	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:40661144G>A	uc001zlk.1	+	8	2920	c.2831G>A	c.(2830-2832)CGT>CAT	p.R944H		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	944					smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GGCCTCCGCCGTGGTTGGTTC	0.622													A	40661144	G	A	40661144	3	1	131	1	0	0	0	0	1	0	0	0	4540	1145	40	1	2861	1	DISP2	15	40661144	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1611	40661144	61870248	1531	77706											
C15orf23	90417	broad.mit.edu	37	chr15	40685709	40685709	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgaaagaggaaagagtcCgattcctagaacagcaaacc	10	8	0	5			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:40685709C>T	uc001zll.2	+	9	977	c.862C>T	c.(862-864)CGA>TGA	p.R288*	C15orf23_uc010ucp.1_3'UTR|C15orf23_uc001zlo.2_3'UTR|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	TRAF4 associated factor 1 isoform a	288	Potential.					nucleus	protein binding			ovary(1)|skin(1)	2		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		GGAAAGAGTCCGATTCCTAGA	0.358													T	40685709	C	T	40685709	4	4	131	1	0	0	0	0	0	1	0	0	1785	644	23	1	939	1	C15orf23	15	40685709	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	24565	40685709	61845683	1532	77707											
BAHD1	22893	broad.mit.edu	37	chr15	40750958	40750958	+	Frame_Shift_Del	DEL	C	C	-													taccgcctgacctgcccaagCcccccagcccggccccatcc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:40750957_40750957GC>G	uc001zlu.2	+	1	365	c.294_294GC>G	c.(292-294)aagfs	p.K98fs	BAHD1_uc001zlt.2_Frame_Shift_Del_p.K98fs|BAHD1_uc010bbp.1_Frame_Shift_Del_p.K98fs|BAHD1_uc001zlv.2_Frame_Shift_Del_p.K98fs	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	98					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		ACCTGCCCAAGCCCCCCAGCC	0.652													-	40750958	C	-	40750958	7	5	131	1	0	1	0	1	0	0	0	0	1297	739	26	0	297	0	BAHD1	15	40750958	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	65249	40750958	61780434	1533	77708											
RPAP1	26015	broad.mit.edu	37	chr15	41812993	41812993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcacccactgcaggacccGcatggctgtgcccatggtgt	12	14	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:41812993G>A	uc001zod.2	-	22	3515	c.3391C>T	c.(3391-3393)CGG>TGG	p.R1131W	RPAP1_uc001zoc.2_Missense_Mutation_p.R150W	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1131	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGCAGGACCCGCATGGCTGTG	0.662													A	41812993	G	A	41812993	3	1	131	1	0	0	0	0	1	0	0	0	13541	1086	38	1	806	1	RPAP1	15	41812993	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1062035	41812993	60718399	1534	77709											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42139703	42139703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctggtcagcgactccttcCgggagtactcggcccctggt	12	15	2	0	rs141583854	by1000genomes	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:42139703C>T	uc010bco.2	+	19	2217	c.2116C>T	c.(2116-2118)CGG>TGG	p.R706W	JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.R937W|JMJD7-PLA2G4B_uc010bcn.2_Intron|JMJD7-PLA2G4B_uc001zoq.3_Missense_Mutation_p.R407W	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	706	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						CGACTCCTTCCGGGAGTACTC	0.662													T	42139703	C	T	42139703	3	4	131	1	0	0	0	0	1	0	0	0	7955	643	23	1	2903	1	JMJD7-PLA2G4B	15	42139703	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	326710	42139703	60391689	1535	77710											
TMEM87A	25963	broad.mit.edu	37	chr15	42519917	42519917	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttataactcaccgactgacAtgtcactattctgaacttca	4	12	4	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:42519917A>G	uc010udd.1	-	14	1450	c.1291T>C	c.(1291-1293)TGT>CGT	p.C431R		NM_015497	NP_056312	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A isoform 1	431						integral to membrane				ovary(1)	1		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		ACCGACTGACATGTCACTATT	0.363													G	42519917	A	G	42519917	3	3	131	1	0	0	0	0	1	0	0	0	16207	217	8	3	404	3	TMEM87A	15	42519917	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	380214	42519917	60011475	1536	77711											
ZFP106	64397	broad.mit.edu	37	chr15	42734448	42734448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttatttgaagagaggctcCggtgggtgatggagacacat	16	5	0	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:42734448C>T	uc001zpw.2	-	7	3852	c.3517G>A	c.(3517-3519)GGA>AGA	p.G1173R	ZFP106_uc001zpu.2_Missense_Mutation_p.G358R|ZFP106_uc001zpv.2_Missense_Mutation_p.G358R|ZFP106_uc001zpx.2_Missense_Mutation_p.G401R	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	1173						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		AGAGAGGCTCCGGTGGGTGAT	0.507													T	42734448	C	T	42734448	3	4	131	1	0	0	0	0	1	0	0	0	17634	661	23	1	2186	1	ZFP106	15	42734448	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	214531	42734448	59796944	1537	77712											
ZFP106	64397	broad.mit.edu	37	chr15	42743379	42743379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgaggcttttcccttgccGcactgccattctttccacta	7	15	1	0	rs142329440		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:42743379G>A	uc001zpw.2	-	2	1357	c.1022C>T	c.(1021-1023)GCG>GTG	p.A341V	ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.A124V|ZFP106_uc001zpy.1_Missense_Mutation_p.A364V	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	341						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TTCCCTTGCCGCACTGCCATT	0.468													A	42743379	G	A	42743379	3	1	131	1	0	0	0	0	1	0	0	0	17634	1087	38	1	4701	1	ZFP106	15	42743379	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	8931	42743379	59788013	1538	77713											
UBR1	197131	broad.mit.edu	37	chr15	43237587	43237587	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtctcttggctcctagcaatCtcttctataatgcagtgttg	8	10	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:43237587C>T	uc001zqq.2	-	47	5256	c.5190G>A	c.(5188-5190)GAG>GAA	p.E1730E		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	1730					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TCCTAGCAATCTCTTCTATAA	0.443													T	43237587	C	T	43237587	2	4	131	1	0	0	0	0	0	0	0	1	16898	912	32	4		4	UBR1	15	43237587	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	494208	43237587	59293805	1539	77714											
CCNDBP1	23582	broad.mit.edu	37	chr15	43482524	43482524	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactgatttctttccccagcCctgagaacaatgaccttatt	5	12	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:43482524C>A	uc001zqv.2	+	6	661	c.430C>A	c.(430-432)CCT>ACT	p.P144T	CCNDBP1_uc001zqu.2_Missense_Mutation_p.P16T|CCNDBP1_uc010bdc.2_Missense_Mutation_p.P144T|CCNDBP1_uc010bdb.2_Missense_Mutation_p.P16T|CCNDBP1_uc010udl.1_5'UTR|CCNDBP1_uc001zqw.2_RNA|CCNDBP1_uc001zqx.2_Missense_Mutation_p.P16T|CCNDBP1_uc010bdd.2_Missense_Mutation_p.P16T|CCNDBP1_uc001zqy.2_Missense_Mutation_p.P16T	NM_012142	NP_036274	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1 isoform 1	144	Required for interaction with CCND1.|Interaction with RPLP0.|Interaction with TCF3.				cell cycle	cytoplasm|nucleus	protein binding			ovary(1)|kidney(1)	2		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		TTTCCCCAGCCCTGAGAACAA	0.458													A	43482524	C	A	43482524	3	1	131	1	0	0	0	0	1	0	0	0	2919	637	22	5	452	5	CCNDBP1	15	43482524	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	244937	43482524	59048868	1540	77715											
TUBGCP4	27229	broad.mit.edu	37	chr15	43675642	43675642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcccagccagaagaggaCgaggaggatctgggcattgg	17	8	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:43675642C>T	uc001zro.2	+	7	903	c.663C>T	c.(661-663)GAC>GAT	p.D221D	TUBGCP4_uc001zrn.2_Silent_p.D221D|TUBGCP4_uc010bdh.2_RNA	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	221					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			ovary(3)	3		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CAGAAGAGGACGAGGAGGATC	0.527													T	43675642	C	T	43675642	2	4	131	1	0	0	0	0	0	0	0	1	16765	535	19	1		1	TUBGCP4	15	43675642	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	193118	43675642	58855750	1541	77716											
TUBGCP4	27229	broad.mit.edu	37	chr15	43692300	43692300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcaagctgagctgcagCactgctgggccctacaaatg	14	11	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:43692300C>T	uc001zro.2	+	14	1720	c.1480C>T	c.(1480-1482)CAC>TAC	p.H494Y	TUBGCP4_uc001zrn.2_Missense_Mutation_p.H493Y|TUBGCP4_uc010bdh.2_RNA	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	494					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			ovary(3)	3		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TGAGCTGCAGCACTGCTGGGC	0.453													T	43692300	C	T	43692300	3	4	131	1	0	0	0	0	1	0	0	0	16765	710	25	2	1531	2	TUBGCP4	15	43692300	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	16658	43692300	58839092	1542	77717											
B2M	567	broad.mit.edu	37	chr15	45007689	45007690	+	Frame_Shift_Del	DEL	TA	TA	-													agtcaaatttcctgaattgcTatgtgtctgggtttcatcca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:45007689_45007690delTA	uc001zuc.2	+	2	196_197	c.136_137delTA	c.(136-138)TATfs	p.Y46fs	B2M_uc010uek.1_Frame_Shift_Del_p.Y46fs|B2M_uc010bdx.1_Frame_Shift_Del_p.Y46fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	46	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			ovary(2)|skin(1)	3		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		CCTGAATTGCTATGTGTCTGGG	0.401													-	45007690	TA	-	45007689	7	5	131	1	0	1	0	1	0	0	0	0	1244	1522	53	0	142	0	B2M	15	45007689	Frame_Shift_Del	DEL	TA	TCGA-BR-A4QL-01A-31D-A25D-08	1315389	45007689	57523703	1543	77718											
B2M	567	broad.mit.edu	37	chr15	45007824	45007825	+	Frame_Shift_Ins	INS	-	-	C													cttgtactacactgaattcaINScccccactgaaaaagatgag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:45007824_45007825insC	uc001zuc.2	+	2	331_332	c.271_272insC	c.(271-273)ACCfs	p.T91fs	B2M_uc010uek.1_Frame_Shift_Ins_p.T91fs|B2M_uc010bdx.1_Intron	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	91	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			ovary(2)|skin(1)	3		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		CACTGAATTCACCCCCACTGAA	0.416													C	45007825	-	C	45007824	7	5	131	1	0	1	1	0	0	0	0	0	1244	159	6	0	277	0	B2M	15	45007824	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	135	45007824	57523568	1544	77719	375	2									
B2M	567	broad.mit.edu	37	chr15	45007825	45007826	+	Frame_Shift_Ins	INS	-	-	C													ttgtactacactgaattcacINSccccactgaaaaagatgagt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:45007824_45007825A>AC	uc001zuc.3	+	1	331_332	c.271_272A>AC	c.(271-273)accfs	p.T91fs	B2M_uc010uek.1_Frame_Shift_Ins_p.T91fs|B2M_uc010bdx.1_Intron	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	91	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		CACTGAATTCACCCCCACTGAA	0.416													C	45007826	-	C	45007825	7	5	131	1	0	1	1	0	0	0	0	0	1244	507	18	0	278	0	B2M	15	45007825	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	45007825	57523567	1545	77720	375	2									
DUOX2	50506	broad.mit.edu	37	chr15	45399615	45399615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagcgaccagcacgtcccGcagggtggtatttcggatgt	13	11	0	0	rs140940946	by1000genomes	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:45399615G>A	uc010bea.2	-	14	1824	c.1621C>T	c.(1621-1623)CGG>TGG	p.R541W	DUOX2_uc001zun.2_Missense_Mutation_p.R541W	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	541	Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGCACGTCCCGCAGGGTGGTA	0.537													A	45399615	G	A	45399615	3	1	131	1	0	0	0	0	1	0	0	0	4801	1086	38	1	3109	1	DUOX2	15	45399615	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	391790	45399615	57131777	1546	77721											
DUOX2	50506	broad.mit.edu	37	chr15	45404879	45404879	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagcctgatacacaccgtcGgcgtaattggctggtacgcg	13	11	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:45404879G>T	uc010bea.2	-	4	401	c.198C>A	c.(196-198)GCC>GCA	p.A66A	DUOX2_uc001zun.2_Silent_p.A66A|DUOXA2_uc001zuo.2_5'Flank|DUOXA2_uc010beb.2_5'Flank	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	66	Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ACACACCGTCGGCGTAATTGG	0.682													T	45404879	G	T	45404879	2	4	131	1	0	0	0	0	0	0	0	1	4801	1103	39	5		5	DUOX2	15	45404879	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	5264	45404879	57126513	1547	77722											
PLDN	26258	broad.mit.edu	37	chr15	45884368	45884368	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctccagatgaagggttaataGaggacttgactatagaagac	11	6	0	6			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:45884368G>A	uc001zvq.2	+	2	343	c.118G>A	c.(118-120)GAG>AAG	p.E40K	PLDN_uc001zvr.2_RNA|PLDN_uc001zvs.2_RNA	NM_012388	NP_036520	Q9UL45	PLDN_HUMAN	pallidin	40					post-Golgi vesicle-mediated transport|synaptic vesicle docking involved in exocytosis	BLOC-1 complex|endomembrane system|membrane	identical protein binding|syntaxin-13 binding			skin(1)	1		Lung NSC(122;1.6e-06)|all_lung(180;1.13e-05)|Melanoma(134;0.027)		all cancers(107;6.58e-18)|GBM - Glioblastoma multiforme(94;5.91e-07)		AGGGTTAATAGAGGACTTGAC	0.358													A	45884368	G	A	45884368	3	1	131	1	0	0	0	0	1	0	0	0	12051	943	33	4	124	4	PLDN	15	45884368	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	479489	45884368	56647024	1548	77723											
SLC24A5	283652	broad.mit.edu	37	chr15	48431210	48431211	+	Frame_Shift_Ins	INS	-	-	T													tgaagcagacttaaaaagaaINSttttttgggtattatccctt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:48431210_48431211insT	uc001zwe.2	+	7	989_990	c.916_917insT	c.(916-918)ATTfs	p.I306fs	SLC24A5_uc010bel.2_Frame_Shift_Ins_p.I246fs|uc001zwf.1_5'Flank|SLC24A5_uc001zwk.2_5'Flank	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN	solute carrier family 24, member 5 precursor	306	Helical; Name=6; (Potential).				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity				0		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CTTAAAAAGAATTTTTTGGGTA	0.312													T	48431211	-	T	48431210	7	5	131	1	0	1	1	0	0	0	0	0	14469	101	4	0	942	0	SLC24A5	15	48431210	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	2546842	48431210	54100182	1549	77724	376	2									
SLC24A5	283652	broad.mit.edu	37	chr15	48431211	48431212	+	Frame_Shift_Ins	INS	-	-	T													gaagcagacttaaaaagaatINStttttgggtattatcccttc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:48431210_48431211A>AT	uc001zwe.3	+	6	989_990	c.916_917A>AT	c.(916-918)attfs	p.I306fs	SLC24A5_uc010bel.3_Frame_Shift_Ins_p.I246fs|AK021664_uc001zwf.1_5'Flank|SLC24A5_uc001zwk.3_5'Flank	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN	Homo sapiens solute carrier family 24, member 5 (SLC24A5), mRNA.	306					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CTTAAAAAGAATTTTTTGGGTA	0.312													T	48431212	-	T	48431211	7	5	131	1	0	1	1	0	0	0	0	0	14469	1493	52	0	943	0	SLC24A5	15	48431211	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	48431211	54100181	1550	77725	376	2									
CYP19A1	1588	broad.mit.edu	37	chr15	51503148	51503148	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgtcttcacgtggaatcGtctcagaagtgtaacgagga	11	8	3	1	rs72552260		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:51503148G>A	uc001zyz.3	-	11	1620	c.1369C>T	c.(1369-1371)CGA>TGA	p.R457*	CYP19A1_uc001zza.3_Nonsense_Mutation_p.R457*	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	457					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	ACGTGGAATCGTCTCAGAAGT	0.468													A	51503148	G	A	51503148	4	1	131	1	0	0	0	0	0	1	0	0	4148	1153	40	1	146	1	CYP19A1	15	51503148	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	3071937	51503148	51028244	1551	77726											
MYO5C	55930	broad.mit.edu	37	chr15	52556467	52556467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgccaggattttaaaaaCgtccatctgaaaatcctcct	7	11	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:52556467C>T	uc010bff.2	-	9	1104	c.967G>A	c.(967-969)GTT>ATT	p.V323I	MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA|MYO5C_uc010ugc.1_Silent_p.T222T	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	323	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		ATTTTAAAAACGTCCATCTGA	0.438													T	52556467	C	T	52556467	3	4	131	1	0	0	0	0	1	0	0	0	10080	536	19	1	4393	1	MYO5C	15	52556467	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1053319	52556467	49974925	1552	77727											
UNC13C	440279	broad.mit.edu	37	chr15	54786877	54786877	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagttaaatggttttatAatgaatatgtgcgtgaactt	8	3	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:54786877A>C	uc002ack.2	+	18	5005	c.5005A>C	c.(5005-5007)AAT>CAT	p.N1669H		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1669	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATGGTTTTATAATGAATATGT	0.323													C	54786877	A	C	54786877	3	2	131	1	0	0	0	0	1	0	0	0	16983	362	13	5	5075	5	UNC13C	15	54786877	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	2230410	54786877	47744515	1553	77728											
UNC13C	440279	broad.mit.edu	37	chr15	54916051	54916051	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgttccgcccctttgtggaAgtttgtatactgggacccaa	10	10	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:54916051A>G	uc002ack.2	+	30	6258	c.6258A>G	c.(6256-6258)GAA>GAG	p.E2086E	UNC13C_uc002acm.2_Silent_p.E7E	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	2086	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCTTTGTGGAAGTTTGTATAC	0.388													G	54916051	A	G	54916051	2	3	131	1	0	0	0	0	0	0	0	1	16983	69	3	3		3	UNC13C	15	54916051	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	129174	54916051	47615341	1554	77729											
NEDD4	4734	broad.mit.edu	37	chr15	56144650	56144650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctttgtccaagtagtcGttctggaattgtgatctaca	11	7	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:56144650G>A	uc002adj.2	-	9	2675	c.2375C>T	c.(2374-2376)ACG>ATG	p.T792M	NEDD4_uc002adl.2_Missense_Mutation_p.T373M|NEDD4_uc002adi.2_Missense_Mutation_p.T720M|NEDD4_uc010ugj.1_Missense_Mutation_p.T776M|NEDD4_uc010bfm.2_Missense_Mutation_p.T775M|NEDD4_uc002adk.2_RNA	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	792	Mediates interaction with TNIK (By similarity).|WW 2.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CCAAGTAGTCGTTCTGGAATT	0.378													A	56144650	G	A	56144650	3	1	131	1	0	0	0	0	1	0	0	0	10310	1145	40	1	1652	1	NEDD4	15	56144650	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1228599	56144650	46386742	1555	77730											
RFX7	64864	broad.mit.edu	37	chr15	56386180	56386181	+	Frame_Shift_Ins	INS	-	-	T													actcaacaaaacattggttaINStttttttactgtttgcttgc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:56386180_56386181insT	uc010bfn.2	-	9	3745_3746	c.3745_3746insA	c.(3745-3747)ATAfs	p.I1249fs	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Frame_Shift_Ins_p.I1063fs	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	1152					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						AACATTGGTTATTTTTTTACTG	0.416													T	56386181	-	T	56386180	7	5	131	1	0	1	1	0	0	0	0	0	13268	449	16	0	640	0	RFX7	15	56386180	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	241530	56386180	46145212	1556	77731	377	2									
RFX7	64864	broad.mit.edu	37	chr15	56386181	56386182	+	Frame_Shift_Ins	INS	-	-	T													ctcaacaaaacattggttatINSttttttactgtttgcttgct							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:56386180_56386181A>AT	uc010bfn.3	-	8	3745_3746	c.3745_3746T>AT	c.(3745-3747)atafs	p.I1249fs	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Frame_Shift_Ins_p.I1063fs	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	1152					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AACATTGGTTATTTTTTTACTG	0.416													T	56386182	-	T	56386181	7	5	131	1	0	1	1	0	0	0	0	0	13268	1493	52	0	641	0	RFX7	15	56386181	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	56386181	46145211	1557	77732	377	2									
SLTM	79811	broad.mit.edu	37	chr15	59181694	59181694	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttcataacgaagctgctgTtgttgccttctgagttcctc	9	10	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:59181694T>C	uc002afp.2	-	16	2227	c.2139A>G	c.(2137-2139)CAA>CAG	p.Q713Q	SLTM_uc002afn.2_Silent_p.Q255Q|SLTM_uc002afo.2_Silent_p.Q695Q|SLTM_uc002afq.2_Silent_p.Q282Q|SLTM_uc010bgd.2_Silent_p.Q282Q	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	713	Arg/Glu-rich.|Potential.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						GAAGCTGCTGTTGTTGCCTTC	0.413													C	59181694	T	C	59181694	2	2	131	1	0	0	0	0	0	0	0	1	14754	1722	60	3		3	SLTM	15	59181694	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	2795513	59181694	43349698	1558	77733											
GCNT3	9245	broad.mit.edu	37	chr15	59911278	59911280	+	In_Frame_Del	DEL	AAG	AAG	-													acacattacacctaaccaacAagaagaaggatcctccccct							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:59911278_59911280delAAG	uc002age.2	+	3	1290_1292	c.841_843delAAG	c.(841-843)AAGdel	p.K283del	GCNT3_uc002agd.2_In_Frame_Del_p.K283del	NM_004751	NP_004742	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin	283	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)	2						CCTAACCAACAAGAAGAAGGATC	0.429													-	59911280	AAG	-	59911278	7	5	131	1	0	1	0	1	0	0	0	0	6302	131	5	0	843	0	GCNT3	15	59911278	In_Frame_Del	DEL	AAG	TCGA-BR-A4QL-01A-31D-A25D-08	729584	59911278	42620114	1559	77734											
NARG2	79664	broad.mit.edu	37	chr15	60741266	60741267	+	Frame_Shift_Ins	INS	-	-	T													ttatatactcgtttgataggINStttttttaaaacacatgact							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:60741266_60741267insT	uc002agp.2	-	10	2134_2135	c.1899_1900insA	c.(1897-1902)AAACCTfs	p.K633fs	NARG2_uc002ago.2_Frame_Shift_Ins_p.K496fs|NARG2_uc002agq.3_Frame_Shift_Ins_p.K301fs	NM_024611	NP_078887	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	633_634						nucleus				ovary(1)|lung(1)	2						CGTTTGATAGGTTTTTTTAAAA	0.381													T	60741267	-	T	60741266	7	5	131	1	0	1	1	0	0	0	0	0	10169	1261	44	0	1076	0	NARG2	15	60741266	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	829988	60741266	41790126	1560	77735	378	2									
NARG2	79664	broad.mit.edu	37	chr15	60741267	60741268	+	Frame_Shift_Ins	INS	-	-	T													tatatactcgtttgataggtINSttttttaaaacacatgactc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:60741266_60741267G>GT	uc002agp.3	-	9	2134_2135	c.1899_1900C>AC	c.(1897-1902)aaacctfs	p.K633fs	NARG2_uc002ago.3_Frame_Shift_Ins_p.K496fs|NARG2_uc002agq.4_Frame_Shift_Ins_p.K301fs	NM_024611	NP_001018099	Q659A1	NARG2_HUMAN	Homo sapiens NMDA receptor regulated 2 (NARG2), transcript variant 1, mRNA.	633						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CGTTTGATAGGTTTTTTTAAAA	0.381													T	60741268	-	T	60741267	7	5	131	1	0	1	1	0	0	0	0	0	10169	1722	60	0	1077	0	NARG2	15	60741267	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	60741267	41790125	1561	77736	378	2									
TLN2	83660	broad.mit.edu	37	chr15	63000909	63000909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgcggcagtttgccagccGaggcgagcccatcggccgct	15	14	0	0	rs145362831		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:63000909G>A	uc002alb.3	+	18	2381	c.2381G>A	c.(2380-2382)CGA>CAA	p.R794Q		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	794					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						TTTGCCAGCCGAGGCGAGCCC	0.617													A	63000909	G	A	63000909	3	1	131	1	0	0	0	0	1	0	0	0	15945	1058	37	1	2451	1	TLN2	15	63000909	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2259642	63000909	39530483	1562	77737											
USP3	9960	broad.mit.edu	37	chr15	63824852	63824852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctttttattagtgtgccGgtccaacaaaagcccttggg	9	9	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:63824852G>A	uc002amf.2	+	2	227	c.98G>A	c.(97-99)CGG>CAG	p.R33Q	USP3_uc010uii.1_RNA|USP3_uc002amg.2_5'UTR|USP3_uc002amh.2_Missense_Mutation_p.R11Q|USP3_uc010uij.1_Missense_Mutation_p.R33Q|USP3_uc010uik.1_Intron|USP3_uc010bgs.2_Missense_Mutation_p.R16Q	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN	ubiquitin thiolesterase 3	33	UBP-type.				DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(80;0.0187)		TTAGTGTGCCGGTCCAACAAA	0.363													A	63824852	G	A	63824852	3	1	131	1	0	0	0	0	1	0	0	0	17057	1116	39	1	104	1	USP3	15	63824852	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	823943	63824852	38706540	1563	77738											
SMAD3	4088	broad.mit.edu	37	chr15	67473668	67473668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcggggagacattccacGcctcgcagccatccatgact	11	15	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:67473668G>A	uc002aqj.2	+	6	1046	c.748G>A	c.(748-750)GCC>ACC	p.A250T	SMAD3_uc010ujr.1_Missense_Mutation_p.A145T|SMAD3_uc010ujs.1_Missense_Mutation_p.A206T|SMAD3_uc010ujt.1_Missense_Mutation_p.A55T	NM_005902	NP_005893	P84022	SMAD3_HUMAN	mothers against decapentaplegic homolog 3	250	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GACATTCCACGCCTCGCAGCC	0.592													A	67473668	G	A	67473668	3	1	131	1	0	0	0	0	1	0	0	0	14759	1087	38	1	848	1	SMAD3	15	67473668	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	3648816	67473668	35057724	1564	77739											
LBXCOR1	390598	broad.mit.edu	37	chr15	68122574	68122574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgccgatgatttggaaaCgaggaaatcctatccagacc	10	12	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:68122574C>T	uc002aqy.1	+	5	2321	c.2321C>T	c.(2320-2322)ACG>ATG	p.T774M		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	818					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0						GATTTGGAAACGAGGAAATCC	0.517													T	68122574	C	T	68122574	3	4	131	1	0	0	0	0	1	0	0	0	8655	536	19	1	2339	1	LBXCOR1	15	68122574	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	648906	68122574	34408818	1565	77740											
NOX5	79400	broad.mit.edu	37	chr15	69331226	69331226	+	Frame_Shift_Del	DEL	T	T	-													ctcctcatcaagcggcccccTttttttcactatagacctgg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:69331225_69331225CT>C	uc002ars.2	+	8	1441	c.1400_1400CT>C	c.(1399-1401)cctfs	p.P467fs	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Frame_Shift_Del_p.P421fs|NOX5_uc002arp.2_Frame_Shift_Del_p.P449fs|NOX5_uc010bid.2_Frame_Shift_Del_p.P432fs|NOX5_uc010bie.2_Frame_Shift_Del_p.P267fs|NOX5_uc002arr.2_Frame_Shift_Del_p.P439fs|NOX5_uc010bif.2_Intron	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	467	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AAGCGGCCCCCTTTTTTTCAC	0.542													-	69331226	T	-	69331226	7	5	131	1	0	1	0	1	0	0	0	0	10559	1596	56	0	1468	0	NOX5	15	69331226	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	1208652	69331226	33200166	1566	77741											
PKM2	5315	broad.mit.edu	37	chr15	72511345	72511345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgaatcaatgtccaggcGgcacatgtgctccaggaatg	13	9	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:72511345G>A	uc002atx.1	-	2	335	c.94C>T	c.(94-96)CGC>TGC	p.R32C	PKM2_uc010bit.1_Missense_Mutation_p.R37C|PKM2_uc010uki.1_Missense_Mutation_p.R106C|PKM2_uc002atv.1_Missense_Mutation_p.R67C|PKM2_uc002atw.1_Missense_Mutation_p.R32C|PKM2_uc002aty.1_Missense_Mutation_p.R32C|PKM2_uc010ukj.1_Silent_p.A47A|PKM2_uc010ukk.1_Missense_Mutation_p.R32C|PKM2_uc010biu.1_Missense_Mutation_p.R53C|PKM2_uc002atz.1_RNA	NM_182471	NP_872271	P14618	KPYM_HUMAN	pyruvate kinase, muscle isoform M1	32					glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)	1					Pyruvic acid(DB00119)	ATGTCCAGGCGGCACATGTGC	0.572													A	72511345	G	A	72511345	3	1	131	1	0	0	0	0	1	0	0	0	11977	1116	39	1	1712	1	PKM2	15	72511345	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	3180119	72511345	30020047	1567	77742											
NEO1	4756	broad.mit.edu	37	chr15	73581529	73581529	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtctacactggctggaaggcGaggaatgagaccaaaaatga	13	7	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:73581529G>T	uc002avm.3	+	25	3834	c.3692G>T	c.(3691-3693)CGA>CTA	p.R1231L	NEO1_uc010ukx.1_Missense_Mutation_p.R1220L|NEO1_uc010uky.1_Missense_Mutation_p.R1231L|NEO1_uc010ukz.1_Missense_Mutation_p.R644L|NEO1_uc002avn.3_Missense_Mutation_p.R869L	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	1231	Cytoplasmic (Potential).				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						GCTGGAAGGCGAGGAATGAGA	0.502													T	73581529	G	T	73581529	3	4	131	1	0	0	0	0	1	0	0	0	10336	1058	37	5	3790	5	NEO1	15	73581529	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1070184	73581529	28949863	1568	77743											
CD276	80381	broad.mit.edu	37	chr15	73996677	73996677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggcaacgtgaccacgtcGcagatggccaacgagcaggg	14	12	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:73996677G>A	uc002avv.1	+	6	1467	c.1233G>A	c.(1231-1233)TCG>TCA	p.S411S	CD276_uc010bjd.1_Silent_p.S265S|CD276_uc002avu.1_Silent_p.S411S|CD276_uc002avw.1_Silent_p.S193S|CD276_uc010ulb.1_Silent_p.S357S|CD276_uc002avx.2_RNA	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	CD276 antigen isoform a	411	Extracellular (Potential).|Ig-like C2-type 2.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			skin(1)	1						TGACCACGTCGCAGATGGCCA	0.647											OREG0023265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	73996677	G	A	73996677	2	1	131	1	0	0	0	0	0	0	0	1	2992	1074	38	1		1	CD276	15	73996677	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	415148	73996677	28534715	1569	77744											
LOXL1	4016	broad.mit.edu	37	chr15	74235272	74235272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcccacctgtactccctgCgctgtgctgcggaggagaag	14	13	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:74235272C>T	uc002awc.1	+	2	1516	c.1180C>T	c.(1180-1182)CGC>TGC	p.R394C		NM_005576	NP_005567	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1 preproprotein	394	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding				0						GTACTCCCTGCGCTGTGCTGC	0.587													T	74235272	C	T	74235272	3	4	131	1	0	0	0	0	1	0	0	0	8899	768	27	1	1186	1	LOXL1	15	74235272	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	238595	74235272	28296120	1570	77745											
GOLGA6A	342096	broad.mit.edu	37	chr15	74367334	74367334	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgggggcgccagggatgGgggctcagctgagaaatgaa	19	7	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:74367334G>T	uc002axa.1	-	11	897	c.856C>A	c.(856-858)CCA>ACA	p.P286T		NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	golgi autoantigen, golgin subfamily a, 6	286	Potential.										0						GCCAGGGATGGGGGCTCAGCT	0.537													T	74367334	G	T	74367334	3	4	131	1	0	0	0	0	1	0	0	0	6557	1232	43	5	1257	5	GOLGA6A	15	74367334	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	132062	74367334	28164058	1571	77746											
ISLR	3671	broad.mit.edu	37	chr15	74468067	74468067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacgtgggcactgatgggCgtgccctgcctggcacccct	13	16	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:74468067C>T	uc002axg.1	+	2	1150	c.868C>T	c.(868-870)CGT>TGT	p.R290C	ISLR_uc002axh.1_Missense_Mutation_p.R290C	NM_005545	NP_005536	O14498	ISLR_HUMAN	immunoglobulin superfamily containing	290	Ig-like.				cell adhesion	extracellular region				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						CACTGATGGGCGTGCCCTGCC	0.642													T	74468067	C	T	74468067	3	4	131	1	0	0	0	0	1	0	0	0	7858	768	27	1	870	1	ISLR	15	74468067	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	100733	74468067	28063325	1572	77747											
CCDC33	80125	broad.mit.edu	37	chr15	74627335	74627335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttagaggactcagctcgacGctggggacgagagaagcagg	17	8	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:74627335G>A	uc002axo.2	+	18	2439	c.2045G>A	c.(2044-2046)CGC>CAC	p.R682H	CCDC33_uc002axp.2_Missense_Mutation_p.R538H|CCDC33_uc002axq.2_Missense_Mutation_p.R309H|CCDC33_uc002axr.2_Missense_Mutation_p.R275H	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	885	Potential.						protein binding			ovary(3)|skin(2)	5						TCAGCTCGACGCTGGGGACGA	0.572													A	74627335	G	A	74627335	3	1	131	1	0	0	0	0	1	0	0	0	2806	1087	38	1	2294	1	CCDC33	15	74627335	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	159268	74627335	27904057	1573	77748											
CLK3	1198	broad.mit.edu	37	chr15	74911553	74911553	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctagatgcatcactgtaagCgataccgctcccctgaacca	7	15	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:74911553C>T	uc010uln.1	+	2	921	c.460C>T	c.(460-462)CGA>TGA	p.R154*	CLK3_uc002ayg.3_Nonsense_Mutation_p.R6*|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Nonsense_Mutation_p.R154*|CLK3_uc002ayj.3_Nonsense_Mutation_p.R6*|CLK3_uc002ayk.3_5'UTR	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	154						acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						TCACTGTAAGCGATACCGCTC	0.607													T	74911553	C	T	74911553	4	4	131	1	0	0	0	0	0	1	0	0	3538	760	27	1	466	1	CLK3	15	74911553	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	284218	74911553	27619839	1574	77749											
CSK	1445	broad.mit.edu	37	chr15	75094779	75094779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaactgctggcacctggaCgccgccatgcggccctcctt	11	16	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:75094779C>T	uc010bkb.1	+	14	1461	c.1278C>T	c.(1276-1278)GAC>GAT	p.D426D	CSK_uc002ays.2_Silent_p.D426D|CSK_uc010bkc.1_Silent_p.D235D	NM_001127190	NP_001120662	P41240	CSK_HUMAN	c-src tyrosine kinase	426	Protein kinase.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			lung(2)|central_nervous_system(1)	3						GGCACCTGGACGCCGCCATGC	0.637													T	75094779	C	T	75094779	2	4	131	1	0	0	0	0	0	0	0	1	3943	535	19	1		1	CSK	15	75094779	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	183226	75094779	27436613	1575	77750											
SIN3A	25942	broad.mit.edu	37	chr15	75664484	75664484	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	catttcacggggcacatgctCcttggtccatttatctaccc	7	14	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:75664484C>A	uc002bai.2	-	21	3917	c.3658G>T	c.(3658-3660)GAG>TAG	p.E1220*	SIN3A_uc002baj.2_Nonsense_Mutation_p.E1220*|SIN3A_uc010uml.1_Nonsense_Mutation_p.E1220*	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	1220					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						GGCACATGCTCCTTGGTCCAT	0.502													A	75664484	C	A	75664484	4	1	131	1	0	0	0	0	0	1	0	0	14325	864	30	5	167	5	SIN3A	15	75664484	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	569705	75664484	26866908	1576	77751											
SNX33	257364	broad.mit.edu	37	chr15	75949393	75949393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcattcgcaggcgctgccGcgtggtgggtttcgccctgc	16	14	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:75949393G>A	uc002bau.2	+	2	1658	c.1562G>A	c.(1561-1563)CGC>CAC	p.R521H	SNX33_uc002bav.2_Missense_Mutation_p.R134H	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	sorting nexin 33	521	BAR.				cell communication		phosphatidylinositol binding|protein binding			ovary(1)	1						AGGCGCTGCCGCGTGGTGGGT	0.627													A	75949393	G	A	75949393	3	1	131	1	0	0	0	0	1	0	0	0	14903	1087	38	1	1568	1	SNX33	15	75949393	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	284909	75949393	26581999	1577	77752											
CRABP1	1381	broad.mit.edu	37	chr15	78633425	78633425	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtggccgtagcggctgcGtccaagccgcacgtggagat	15	11	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:78633425G>A	uc002bdp.2	+	2	216	c.111G>A	c.(109-111)GCG>GCA	p.A37A		NM_004378	NP_004369	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	37					multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity				0					Alitretinoin(DB00523)|Etretinate(DB00926)	TAGCGGCTGCGTCCAAGCCGC	0.632													A	78633425	G	A	78633425	2	1	131	1	0	0	0	0	0	0	0	1	3843	1132	40	1		1	CRABP1	15	78633425	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2684032	78633425	23897967	1578	77753											
CTSH	1512	broad.mit.edu	37	chr15	79227367	79227367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttttttccgccagtccaCggaaggtgggtagggaccag	13	11	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:79227367C>T	uc002ben.2	-	6	419	c.322G>A	c.(322-324)GTG>ATG	p.V108M	CTSH_uc010unf.1_RNA|CTSH_uc010bll.1_Intron|CTSH_uc010ung.1_Missense_Mutation_p.V120M	NM_148979	NP_683880	P09668	CATH_HUMAN	cathepsin H isoform b precursor	120					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(2)|large_intestine(1)	3						CGCCAGTCCACGGAAGGTGGG	0.458													T	79227367	C	T	79227367	3	4	131	1	0	0	0	0	1	0	0	0	4036	536	19	1	681	1	CTSH	15	79227367	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	593942	79227367	23304025	1579	77754											
KIAA1024	23251	broad.mit.edu	37	chr15	79760622	79760622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tactaaaacgtaaagaagccGaattcagacgagccaaggtc	9	9	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:79760622G>A	uc002bew.1	+	4	2722	c.2647G>A	c.(2647-2649)GAA>AAA	p.E883K	KIAA1024_uc010unk.1_3'UTR	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	883						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						TAAAGAAGCCGAATTCAGACG	0.433													A	79760622	G	A	79760622	3	1	131	1	0	0	0	0	1	0	0	0	8205	1059	37	1	2657	1	KIAA1024	15	79760622	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	533255	79760622	22770770	1580	77755											
KIAA1199	57214	broad.mit.edu	37	chr15	81173411	81173411	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatttttttgaaaggagctGgggccaccgtggagttattg	13	6	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:81173411G>A	uc002bfw.1	+	5	811	c.551G>A	c.(550-552)TGG>TAG	p.W184*	KIAA1199_uc010unn.1_Nonsense_Mutation_p.W184*	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	184										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						GAAAGGAGCTGGGGCCACCGT	0.463													A	81173411	G	A	81173411	4	1	131	1	0	0	0	0	0	1	0	0	8213	1357	47	4	565	4	KIAA1199	15	81173411	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1412789	81173411	21357981	1581	77756											
IL16	3603	broad.mit.edu	37	chr15	81593805	81593806	+	Frame_Shift_Ins	INS	-	-	A													tgctgagctcagaagaattaINSaaaaaactcatcgaggaggt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:81593804_81593805T>TA	uc021ssh.1	+	13	3370_3371	c.3269_3270T>TA	c.(3268-3270)ttafs	p.L1090fs	IL16_uc010blq.1_Frame_Shift_Ins_p.L1044fs|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Frame_Shift_Ins_p.L1132fs|IL16_uc002bgg.3_Frame_Shift_Ins_p.L1090fs|IL16_uc002bgi.1_Frame_Shift_Ins_p.L480fs|IL16_uc002bgj.3_Frame_Shift_Ins_p.L584fs|IL16_uc021ssi.1_Frame_Shift_Ins_p.L389fs|IL16_uc002bgl.1_Frame_Shift_Ins_p.L389fs|IL16_uc010unq.1_Frame_Shift_Ins_p.L389fs	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	1090	Interaction with HTLV-1 tax.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCAGAAGAATTAAAAAAACTCA	0.46													A	81593806	-	A	81593805	7	5	131	1	0	1	1	0	0	0	0	0	7633	359	13	0	3324	0	IL16	15	81593805	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	420394	81593805	20937587	1582	77757											
AEN	64782	broad.mit.edu	37	chr15	89169555	89169555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggagccgacagcaccagCggttcatggcccggaaggcc	15	13	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:89169555C>T	uc002bmt.2	+	2	266	c.115C>T	c.(115-117)CGG>TGG	p.R39W	AEN_uc010bnl.2_Missense_Mutation_p.R39W|AEN_uc010bnm.1_Missense_Mutation_p.R39W	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN	interferon stimulated exonuclease gene	39					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding				0						ACAGCACCAGCGGTTCATGGC	0.642													T	89169555	C	T	89169555	3	4	131	1	0	0	0	0	1	0	0	0	351	759	27	1	117	1	AEN	15	89169555	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	7575750	89169555	13361837	1583	77758											
FANCI	55215	broad.mit.edu	37	chr15	89848426	89848426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtcctgtcattctgctgCgtgacttgtcccaggatatc	10	11	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:89848426C>T	uc010bnp.1	+	29	3229	c.3139C>T	c.(3139-3141)CGT>TGT	p.R1047C	FANCI_uc002bnm.1_Missense_Mutation_p.R987C|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.R808C|FANCI_uc002bnq.1_Missense_Mutation_p.R460C	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	1047					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					CATTCTGCTGCGTGACTTGTC	0.483								Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				T	89848426	C	T	89848426	3	4	131	1	0	0	0	0	1	0	0	0	5669	768	27	1	3249	1	FANCI	15	89848426	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	678871	89848426	12682966	1584	77759											
C15orf42	90381	broad.mit.edu	37	chr15	90169247	90169247	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgacccagtctccgctgCtgttccaggggaaaacacct	9	15	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:90169247C>T	uc002boe.2	+	21	5557	c.5557C>T	c.(5557-5559)CTG>TTG	p.L1853L	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1853					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GTCTCCGCTGCTGTTCCAGGG	0.562													T	90169247	C	T	90169247	2	4	131	1	0	0	0	0	0	0	0	1	1796	796	28	2		2	C15orf42	15	90169247	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	320821	90169247	12362145	1585	77760											
ANPEP	290	broad.mit.edu	37	chr15	90349232	90349232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctccatgtactcgctgcGgtagaagcccgccaggtcat	11	15	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:90349232G>A	uc002bop.3	-	2	875	c.583C>T	c.(583-585)CGC>TGC	p.R195C		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	195	Extracellular.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)|skin(1)	4	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TACTCGCTGCGGTAGAAGCCC	0.622													A	90349232	G	A	90349232	3	1	131	1	0	0	0	0	1	0	0	0	710	1116	39	1	2400	1	ANPEP	15	90349232	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	179985	90349232	12182160	1586	77761											
CRTC3	64784	broad.mit.edu	37	chr15	91185350	91185350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacccctctgttgaagagaCgtttcgagctgacagactgt	12	10	1	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:91185350C>T	uc002bpp.2	+	15	1944	c.1838C>T	c.(1837-1839)ACG>ATG	p.T613M	CRTC3_uc002bpo.2_Missense_Mutation_p.T612M	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	transducer of regulated CREB protein 3 isoform	613					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	salivary_gland(26)|ovary(1)	27	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GTTGAAGAGACGTTTCGAGCT	0.498			T	MAML2	salivary gland mucoepidermoid								T	91185350	C	T	91185350	3	4	131	1	0	0	0	0	1	0	0	0	3901	536	19	1	1896	1	CRTC3	15	91185350	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	836118	91185350	11346042	1587	77762											
BLM	641	broad.mit.edu	37	chr15	91312684	91312684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagtggggacatgattttcGtcaagattacaaaagaatga	10	5	1	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:91312684G>A	uc002bpr.2	+	12	2520	c.2423G>A	c.(2422-2424)CGT>CAT	p.R808H	BLM_uc010uqh.1_Missense_Mutation_p.R808H|BLM_uc010uqi.1_Missense_Mutation_p.R433H|BLM_uc010bnx.2_Missense_Mutation_p.R808H|BLM_uc002bps.1_Missense_Mutation_p.R370H	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	808	Helicase ATP-binding.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CATGATTTTCGTCAAGATTAC	0.413			Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				A	91312684	G	A	91312684	3	1	131	1	0	0	0	0	1	0	0	0	1445	1145	40	1	2465	1	BLM	15	91312684	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	127334	91312684	11218708	1588	77763											
PRC1	9055	broad.mit.edu	37	chr15	91528045	91528045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatactatggactcctccgCcagcacctcactgaaaacca	5	16	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:91528045C>T	uc002bqm.2	-	2	179	c.22G>A	c.(22-24)GCG>ACG	p.A8T	PRC1_uc002bqn.2_Missense_Mutation_p.A8T|PRC1_uc002bqo.2_Missense_Mutation_p.A8T|PRC1_uc010uqs.1_Missense_Mutation_p.A8T|PRC1_uc010uqt.1_Intron	NM_003981	NP_003972	O43663	PRC1_HUMAN	protein regulator of cytokinesis 1 isoform 1	8	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			ovary(1)|skin(1)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)					GACTCCTCCGCCAGCACCTCA	0.448													T	91528045	C	T	91528045	3	4	131	1	0	0	0	0	1	0	0	0	12446	739	26	2	1896	2	PRC1	15	91528045	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	215361	91528045	11003347	1589	77764											
MCTP2	55784	broad.mit.edu	37	chr15	94901823	94901823	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaaaggacaacaaaaagcAtgaggaacgtctgggcacgt	14	7	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:94901823A>G	uc002btj.2	+	9	1348	c.1283A>G	c.(1282-1284)CAT>CGT	p.H428R	MCTP2_uc010urg.1_3'UTR|MCTP2_uc002bti.2_Missense_Mutation_p.H428R|MCTP2_uc010boj.2_Missense_Mutation_p.H157R|MCTP2_uc010bok.2_Missense_Mutation_p.H428R|MCTP2_uc002btk.3_Missense_Mutation_p.H16R|MCTP2_uc002btl.2_Missense_Mutation_p.H16R	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	428	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AACAAAAAGCATGAGGAACGT	0.507													G	94901823	A	G	94901823	3	3	131	1	0	0	0	0	1	0	0	0	9401	217	8	3	1317	3	MCTP2	15	94901823	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	3373778	94901823	7629569	1590	77765											
IGF1R	3480	broad.mit.edu	37	chr15	99500322	99500322	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgcatgtgctggcagtataAccccaagatgaggccttcct	11	12	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:99500322A>G	uc002bul.2	+	21	3805	c.3755A>G	c.(3754-3756)AAC>AGC	p.N1252S	IGF1R_uc010bon.2_Missense_Mutation_p.N1251S	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	1252	Protein kinase.|Cytoplasmic (Potential).				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TGGCAGTATAACCCCAAGATG	0.582													G	99500322	A	G	99500322	3	3	131	1	0	0	0	0	1	0	0	0	7571	43	2	3	3837	3	IGF1R	15	99500322	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	4598499	99500322	3031070	1591	77766											
LRRK1	79705	broad.mit.edu	37	chr15	101586241	101586241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggacacccacggtatgCggcaccccacagccaacacc	9	19	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:101586241C>T	uc002bwr.2	+	21	3338	c.3019C>T	c.(3019-3021)CGG>TGG	p.R1007W	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1007					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCACGGTATGCGGCACCCCAC	0.562													T	101586241	C	T	101586241	3	4	131	1	0	0	0	0	1	0	0	0	9032	759	27	1	3097	1	LRRK1	15	101586241	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2085919	101586241	945151	1592	77767											
LRRK1	79705	broad.mit.edu	37	chr15	101593491	101593491	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctccgagttccggcaggAggccagcatgctgcacgcgc	13	15	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr15:101593491A>C	uc002bwr.2	+	26	4239	c.3920A>C	c.(3919-3921)GAG>GCG	p.E1307A	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1307	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCGGCAGGAGGCCAGCATG	0.657													C	101593491	A	C	101593491	3	2	131	1	0	0	0	0	1	0	0	0	9032	304	11	5	4018	5	LRRK1	15	101593491	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	7250	101593491	937901	1593	77768											
ITFG3	83986	broad.mit.edu	37	chr16	314628	314628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggagaccggggaggccCggcacagcctgtacatgttc	14	13	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:314628C>T	uc002cgf.2	+	12	1555	c.1360C>T	c.(1360-1362)CGG>TGG	p.R454W	ITFG3_uc002cgg.2_Missense_Mutation_p.R454W|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Missense_Mutation_p.R454W	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	454	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CGGGGAGGCCCGGCACAGCCT	0.642													T	314628	C	T	314628	3	4	131	1	0	0	0	0	1	0	0	0	7871	643	23	1	1398	1	ITFG3	16	314628	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08		314628	90040125	1594	77769											
WFIKKN1	117166	broad.mit.edu	37	chr16	683935	683935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatcatgggtgaggtgcgcGatggcgtggccgtgctggac	18	9	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:683935G>A	uc002cht.1	+	2	1767	c.1525G>A	c.(1525-1527)GAT>AAT	p.D509N	WFIKKN1_uc002chs.1_3'UTR|uc010uuk.1_5'Flank	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz	509	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity				0		Hepatocellular(780;0.00335)				TGAGGTGCGCGATGGCGTGGC	0.677													A	683935	G	A	683935	3	1	131	1	0	0	0	0	1	0	0	0	17355	1058	37	1	1531	1	WFIKKN1	16	683935	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	369307	683935	89670818	1595	77770											
RHOT2	89941	broad.mit.edu	37	chr16	720697	720697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcccgcgtgcgcccaggCgctgacgcgcatcttcaggc	15	16	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:720697C>T	uc002cip.2	+	9	630	c.563C>T	c.(562-564)GCG>GTG	p.A188V	RHOT2_uc002ciq.2_Missense_Mutation_p.A81V|RHOT2_uc010bqy.2_5'Flank	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	ras homolog gene family, member T2	188	EF-hand 1.|Mitochondrial intermembrane (Potential).				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			pancreas(1)	1		Hepatocellular(780;0.0218)				TGCGCCCAGGCGCTGACGCGC	0.682													T	720697	C	T	720697	3	4	131	1	0	0	0	0	1	0	0	0	13344	768	27	1	597	1	RHOT2	16	720697	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	36762	720697	89634056	1596	77771											
CHTF18	63922	broad.mit.edu	37	chr16	847749	847749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcacagcagtcccgagtgCaggtgtgtgtgggggtgttg	19	7	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:847749C>T	uc002cke.3	+	21	2852	c.2789C>T	c.(2788-2790)GCA>GTA	p.A930V	CHTF18_uc002ckf.3_Missense_Mutation_p.A958V|CHTF18_uc010brf.2_Missense_Mutation_p.A512V|CHTF18_uc002ckg.3_Missense_Mutation_p.A448V	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	930					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)				GTCCCGAGTGCAGGTGTGTGT	0.632													T	847749	C	T	847749	3	4	131	1	0	0	0	0	1	0	0	0	3414	710	25	2	2871	2	CHTF18	16	847749	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	127052	847749	89507004	1597	77772											
CACNA1H	8912	broad.mit.edu	37	chr16	1258148	1258148	+	Frame_Shift_Del	DEL	C	C	-													ctcaccattcctggatgcagCccccagcctcccagactctc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:1258148delC	uc002cks.2	+	16	3538	c.3290delC	c.(3289-3291)GCCfs	p.A1097fs	CACNA1H_uc002ckt.2_Frame_Shift_Del_p.A1097fs|CACNA1H_uc002cku.2_5'Flank|CACNA1H_uc010brj.2_5'Flank|CACNA1H_uc002ckv.2_5'Flank	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1097	Cytoplasmic (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTGGATGCAGCCCCCAGCCTC	0.677													-	1258148	C	-	1258148	7	5	131	1	0	1	0	1	0	0	0	0	2545	739	26	0	3348	0	CACNA1H	16	1258148	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	410399	1258148	89096605	1598	77773											
CACNA1H	8912	broad.mit.edu	37	chr16	1270618	1270618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgaggccacgcctcacaGggactccctggagcccacag	12	16	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:1270618G>A	uc002cks.2	+	35	6934	c.6686G>A	c.(6685-6687)AGG>AAG	p.R2229K	CACNA1H_uc002ckt.2_Missense_Mutation_p.R2223K|CACNA1H_uc002cku.2_Missense_Mutation_p.R924K|CACNA1H_uc010brj.2_Missense_Mutation_p.R940K|CACNA1H_uc002ckv.2_Missense_Mutation_p.R918K	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	2229	Cytoplasmic (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ACGCCTCACAGGGACTCCCTG	0.756													A	1270618	G	A	1270618	3	1	131	1	0	0	0	0	1	0	0	0	2545	1000	35	4	6820	4	CACNA1H	16	1270618	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	12470	1270618	89084135	1599	77774											
BAIAP3	8938	broad.mit.edu	37	chr16	1395258	1395258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccaccacagggacagccGctctctggccctggctggca	11	18	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:1395258G>A	uc002clk.1	+	22	2054	c.2054G>A	c.(2053-2055)CGC>CAC	p.R685H	BAIAP3_uc002clj.2_Missense_Mutation_p.R667H|BAIAP3_uc010uuz.1_Missense_Mutation_p.R650H|BAIAP3_uc010uva.1_Missense_Mutation_p.R622H|BAIAP3_uc010uvc.1_Missense_Mutation_p.R614H	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	685	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				AGGGACAGCCGCTCTCTGGCC	0.647													A	1395258	G	A	1395258	3	1	131	1	0	0	0	0	1	0	0	0	1304	1087	38	1	2140	1	BAIAP3	16	1395258	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	124640	1395258	88959495	1600	77775											
GNPTG	84572	broad.mit.edu	37	chr16	1412311	1412311	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctcgtctgccacccccaCgccttgctaggtaggggtgc	11	18	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:1412311C>T	uc002clm.2	+	7	551	c.516C>T	c.(514-516)CAC>CAT	p.H172H		NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphotransferase, gamma	172						extracellular region|Golgi apparatus	protein binding			central_nervous_system(1)	1		Hepatocellular(780;0.0893)				GCCACCCCCACGCCTTGCTAG	0.687													T	1412311	C	T	1412311	2	4	131	1	0	0	0	0	0	0	0	1	6546	535	19	1		1	GNPTG	16	1412311	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	17053	1412311	88942442	1601	77776											
IGFALS	3483	broad.mit.edu	37	chr16	1841250	1841250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgccctccaggtgcaggCtgtgcagcttgcccaggccc	13	16	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:1841250C>T	uc002cmy.2	-	2	1250	c.1169G>A	c.(1168-1170)AGC>AAC	p.S390N	IGFALS_uc010uvn.1_Missense_Mutation_p.S428N|IGFALS_uc010uvo.1_Missense_Mutation_p.S24N	NM_004970	NP_004961	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid	390	LRR 14.				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding				0						CAGGTGCAGGCTGTGCAGCTT	0.667													T	1841250	C	T	1841250	3	4	131	1	0	0	0	0	1	0	0	0	7577	797	28	2	652	2	IGFALS	16	1841250	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	428939	1841250	88513503	1602	77777											
RPL3L	6123	broad.mit.edu	37	chr16	1996656	1996656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggacttggcagtcacgtcGtagctggtggatgcattgtt	14	7	1	0	rs141671269		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:1996656G>A	uc002cnh.2	-	7	968	c.921C>T	c.(919-921)TAC>TAT	p.Y307Y		NM_005061	NP_005052	Q92901	RL3L_HUMAN	ribosomal protein L3-like	307					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome				0						CAGTCACGTCGTAGCTGGTGG	0.642													A	1996656	G	A	1996656	2	1	131	1	0	0	0	0	0	0	0	1	13594	1140	40	1		1	RPL3L	16	1996656	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	155406	1996656	88358097	1603	77778											
TSC2	7249	broad.mit.edu	37	chr16	2105425	2105425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactttgtcctgcagtggatGgatgttggcttgtcctcgga	14	8	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:2105425G>A	uc002con.2	+	6	610	c.504G>A	c.(502-504)ATG>ATA	p.M168I	TSC2_uc010bsd.2_Missense_Mutation_p.M168I|TSC2_uc002coo.2_Missense_Mutation_p.M168I|TSC2_uc010uvv.1_Missense_Mutation_p.M131I|TSC2_uc010uvw.1_Missense_Mutation_p.M119I|TSC2_uc002cop.2_Intron	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	168	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				TGCAGTGGATGGATGTTGGCT	0.552			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				A	2105425	G	A	2105425	3	1	131	1	0	0	0	0	1	0	0	0	16603	1348	47	4	522	4	TSC2	16	2105425	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	108769	2105425	88249328	1604	77779											
CASKIN1	57524	broad.mit.edu	37	chr16	2228903	2228903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccccgccccgcacctacCgcgggccctgcgcgtcctcc	11	23	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:2228903C>T	uc010bsg.1	-	19	4231	c.4199G>A	c.(4198-4200)CGC>CAC	p.R1400H		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1400					signal transduction	cytoplasm				skin(2)	2						ccgcaccTACCGCGGGCCCTG	0.373													T	2228903	C	T	2228903	3	4	131	1	0	0	0	0	1	0	0	0	2666	666	23	1	104	1	CASKIN1	16	2228903	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	123478	2228903	88125850	1605	77780											
ABCA3	21	broad.mit.edu	37	chr16	2328359	2328359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtcccaaagcaggcgccGggccacggggtccatgccag	16	14	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:2328359G>A	uc002cpy.1	-	30	5360	c.4648C>T	c.(4648-4650)CGG>TGG	p.R1550W	ABCA3_uc010bsk.1_Missense_Mutation_p.R1492W	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	1550	ABC transporter 2.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				AGCAGGCGCCGGGCCACGGGG	0.632													A	2328359	G	A	2328359	3	1	131	1	0	0	0	0	1	0	0	0	33	1115	39	1	482	1	ABCA3	16	2328359	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	99456	2328359	88026394	1606	77781											
ABCA3	21	broad.mit.edu	37	chr16	2349441	2349441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtggtcttcccggcaccGttgtggcccagcaggacggt	16	12	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:2349441G>A	uc002cpy.1	-	14	2416	c.1704C>T	c.(1702-1704)AAC>AAT	p.N568N	ABCA3_uc010bsk.1_Silent_p.N510N|ABCA3_uc010bsl.1_Silent_p.N568N	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	568	ABC transporter 1.|ATP 1 (Potential).		N -> D (in SMDP3).		response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				TCCCGGCACCGTTGTGGCCCA	0.637													A	2349441	G	A	2349441	2	1	131	1	0	0	0	0	0	0	0	1	33	1136	40	1		1	ABCA3	16	2349441	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	21082	2349441	88005312	1607	77782											
PRSS21	10942	broad.mit.edu	37	chr16	2871046	2871046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctcaagtacagtttccGcaaggacatctttggagaca	8	11	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:2871046G>A	uc002crt.2	+	5	747	c.641G>A	c.(640-642)CGC>CAC	p.R214H	PRSS21_uc002crs.2_Missense_Mutation_p.R212H|PRSS21_uc002crr.2_Missense_Mutation_p.R214H	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN	testisin isoform 1	214	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			ovary(1)|skin(1)	2						TACAGTTTCCGCAAGGACATC	0.552													A	2871046	G	A	2871046	3	1	131	1	0	0	0	0	1	0	0	0	12618	1087	38	1	659	1	PRSS21	16	2871046	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	521605	2871046	87483707	1608	77783											
CLDN6	9074	broad.mit.edu	37	chr16	3065572	3065572	+	Frame_Shift_Del	DEL	G	G	-													cttttgggcctcagccaccaGggggttatagaagtcccgga							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:3065572delG	uc002csu.3	-	2	511	c.451delC	c.(451-453)CTGfs	p.L151fs		NM_021195	NP_067018	P56747	CLD6_HUMAN	claudin 6	151	Extracellular (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						TCAGCCACCAGGGGGTTATAG	0.627													-	3065572	G	-	3065572	7	5	131	1	0	1	0	1	0	0	0	0	3489	991	35	0	215	0	CLDN6	16	3065572	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	194526	3065572	87289181	1609	77784											
ZNF200	7752	broad.mit.edu	37	chr16	3273976	3273976	+	Frame_Shift_Del	DEL	T	T	-													cgaccaaatcttctcccacaTtttttgcaaccatatggtct							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:3273975_3273975AT>A	uc002cuj.2	-	4	1737	c.1105_1105AT>T	c.(1105-1107)tgtfs	p.C369fs	ZNF200_uc002cum.3_Frame_Shift_Del_p.C368fs|ZNF200_uc002cuk.2_Frame_Shift_Del_p.C369fs|ZNF200_uc010bti.2_Frame_Shift_Del_p.C368fs|ZNF200_uc002cui.2_Frame_Shift_Del_p.C368fs|ZNF200_uc002cul.3_Frame_Shift_Del_p.C368fs	NM_003454	NP_932354	P98182	ZN200_HUMAN	Homo sapiens zinc finger protein 200 (ZNF200), transcript variant 1, mRNA.	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						CTTCTCCCACATTTTTTGCAA	0.458													-	3273976	T	-	3273976	7	5	131	1	0	1	0	1	0	0	0	0	17759	1490	52	0	87	0	ZNF200	16	3273976	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	208404	3273976	87080777	1610	77785											
NLRC3	197358	broad.mit.edu	37	chr16	3613868	3613868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagctcgcacagggtcctcGggggccacagctctgcatcc	13	15	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:3613868G>A	uc010btn.2	-	5	1481	c.1070C>T	c.(1069-1071)CCG>CTG	p.P357L		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	357	NACHT.				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						CAGGGTCCTCGGGGGCCACAG	0.672													A	3613868	G	A	3613868	3	1	131	1	0	0	0	0	1	0	0	0	10468	1116	39	1	2192	1	NLRC3	16	3613868	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	339892	3613868	86740885	1611	77786											
CREBBP	1387	broad.mit.edu	37	chr16	3828769	3828769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctaccaggttttccatgcGgcgatcctttagagctgcgg	13	11	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:3828769G>A	uc002cvv.2	-	9	2077	c.1873C>T	c.(1873-1875)CGC>TGC	p.R625C	CREBBP_uc002cvw.2_Missense_Mutation_p.R587C	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	625	KIX.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTTTCCATGCGGCGATCCTTT	0.463			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				A	3828769	G	A	3828769	3	1	131	1	0	0	0	0	1	0	0	0	3861	1116	39	1	5547	1	CREBBP	16	3828769	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	214901	3828769	86525984	1612	77787											
VASN	114990	broad.mit.edu	37	chr16	4432309	4432309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagccccacctccctgcgCgtggggctgcagcgctacct	13	17	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:4432309C>T	uc002cwj.1	+	2	1586	c.1431C>T	c.(1429-1431)CGC>CGT	p.R477R	CORO7_uc002cwe.2_Intron|CORO7_uc002cwf.2_Intron|CORO7_uc002cwg.3_Intron|CORO7_uc002cwh.3_Intron|CORO7_uc010uxh.1_Intron|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_Intron|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_Intron	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN	slit-like 2 precursor	477	Fibronectin type-III.|Extracellular (Potential).					extracellular region|integral to membrane					0						CCTCCCTGCGCGTGGGGCTGC	0.692													T	4432309	C	T	4432309	2	4	131	1	0	0	0	0	0	0	0	1	17124	755	27	1		1	VASN	16	4432309	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	603540	4432309	85922444	1613	77788											
GLYR1	84656	broad.mit.edu	37	chr16	4862113	4862113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggaggtcttccccatcGcctggaagcagctgctgcag	13	12	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:4862113G>A	uc002cxx.3	-	13	1293	c.1256C>T	c.(1255-1257)GCG>GTG	p.A419V	GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Missense_Mutation_p.A333V|GLYR1_uc002cya.2_Missense_Mutation_p.A413V|GLYR1_uc010uxv.1_Missense_Mutation_p.A338V	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	419				A -> T (in Ref. 7; AAH47223).	pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0						CTTCCCCATCGCCTGGAAGCA	0.572													A	4862113	G	A	4862113	3	1	131	1	0	0	0	0	1	0	0	0	6483	1087	38	1	421	1	GLYR1	16	4862113	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	429804	4862113	85492640	1614	77789											
GRIN2A	2903	broad.mit.edu	37	chr16	9858350	9858350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggcgtatggaatccacGgatttcttccacagctgccg	10	13	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:9858350G>A	uc002czo.3	-	13	3599	c.3051C>T	c.(3049-3051)TCC>TCT	p.S1017S	GRIN2A_uc010uym.1_Silent_p.S1017S|GRIN2A_uc010uyn.1_Silent_p.S860S|GRIN2A_uc002czr.3_Silent_p.S1017S	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1017	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGAATCCACGGATTTCTTCC	0.532													A	9858350	G	A	9858350	2	1	131	1	0	0	0	0	0	0	0	1	6779	1103	39	1		1	GRIN2A	16	9858350	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	4996237	9858350	80496403	1615	77790											
GRIN2A	2903	broad.mit.edu	37	chr16	9943710	9943710	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacgaatggggcctcctccaGggtgacgatgctgagatggt	16	9	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:9943710G>T	uc002czo.3	-	5	1779	c.1231C>A	c.(1231-1233)CTG>ATG	p.L411M	GRIN2A_uc010uym.1_Missense_Mutation_p.L411M|GRIN2A_uc010uyn.1_Missense_Mutation_p.L254M|GRIN2A_uc002czr.3_Missense_Mutation_p.L411M	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	411	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCCTCCTCCAGGGTGACGATG	0.577													T	9943710	G	T	9943710	3	4	131	1	0	0	0	0	1	0	0	0	6779	991	35	5	3199	5	GRIN2A	16	9943710	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	85360	9943710	80411043	1616	77791											
TXNDC11	51061	broad.mit.edu	37	chr16	11829888	11829888	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attacctgatctgaaagccgActtgctgcttgctcaatttc	7	11	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:11829888A>G	uc010buu.1	-	2	518	c.456T>C	c.(454-456)AGT>AGC	p.S152S	TXNDC11_uc002dbg.1_Silent_p.S152S	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	152	Thioredoxin 1.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						CTGAAAGCCGACTTGCTGCTT	0.502													G	11829888	A	G	11829888	2	3	131	1	0	0	0	0	0	0	0	1	16789	272	10	3		3	TXNDC11	16	11829888	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1886178	11829888	78524865	1617	77792											
RSL1D1	26156	broad.mit.edu	37	chr16	11933615	11933615	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgtgggatttcgtcttcGgattcatttgttgctttaac	10	7	2	0	rs144452977	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:11933615G>A	uc002dbp.1	-	8	1156	c.1083C>T	c.(1081-1083)TCC>TCT	p.S361S	RSL1D1_uc010buv.1_Silent_p.S360S|RSL1D1_uc010uyw.1_Silent_p.S141S|RSL1D1_uc010buw.2_RNA	NM_015659	NP_056474	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	361					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0						TTTCGTCTTCGGATTCATTTG	0.398													A	11933615	G	A	11933615	2	1	131	1	0	0	0	0	0	0	0	1	13700	1103	39	1		1	RSL1D1	16	11933615	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	103727	11933615	78421138	1618	77793											
KIAA0430	9665	broad.mit.edu	37	chr16	15710928	15710928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaataaaggcacggtgcCctcgtgggtctggagaagac	13	11	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:15710928C>T	uc002ddr.2	-	15	3251	c.3058G>A	c.(3058-3060)GGC>AGC	p.G1020S	KIAA0430_uc002ddq.2_Missense_Mutation_p.G854S|KIAA0430_uc010uzv.1_Missense_Mutation_p.G1016S|KIAA0430_uc010uzw.1_Missense_Mutation_p.G1019S	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	1019						peroxisome	nucleotide binding|RNA binding				0						GGCACGGTGCCCTCGTGGGTC	0.458													T	15710928	C	T	15710928	3	4	131	1	0	0	0	0	1	0	0	0	8177	623	22	4	2222	4	KIAA0430	16	15710928	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3777313	15710928	74643825	1619	77794											
MYH11	4629	broad.mit.edu	37	chr16	15847322	15847322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtcacgttgtcattcagcGggtccatattcttggtcagc	10	10	5	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:15847322G>A	uc002ddy.2	-	15	1900	c.1793C>T	c.(1792-1794)CCG>CTG	p.P598L	MYH11_uc002ddv.2_Missense_Mutation_p.P605L|MYH11_uc002ddw.2_Missense_Mutation_p.P598L|MYH11_uc002ddx.2_Missense_Mutation_p.P605L|MYH11_uc010bvg.2_Missense_Mutation_p.P430L|MYH11_uc002dea.1_Missense_Mutation_p.P304L	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	598	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						GTCATTCAGCGGGTCCATATT	0.537			T	CBFB	AML								A	15847322	G	A	15847322	3	1	131	1	0	0	0	0	1	0	0	0	10031	1116	39	1	4268	1	MYH11	16	15847322	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	136394	15847322	74507431	1620	77795											
ABCC1	4363	broad.mit.edu	37	chr16	16200615	16200615	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acagctcagcagctcctcctCctatagtggggacatcagca	9	14	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:16200615C>A	uc010bvi.2	+	21	2931	c.2756C>A	c.(2755-2757)TCC>TAC	p.S919Y	ABCC1_uc010bvj.2_Missense_Mutation_p.S860Y|ABCC1_uc010bvk.2_Missense_Mutation_p.S863Y|ABCC1_uc010bvl.2_Missense_Mutation_p.S919Y|ABCC1_uc010bvm.2_Missense_Mutation_p.S804Y|ABCC1_uc002del.3_Missense_Mutation_p.S813Y	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	919	Cytoplasmic.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AGCTCCTCCTCCTATAGTGGG	0.577													A	16200615	C	A	16200615	3	1	131	1	0	0	0	0	1	0	0	0	49	855	30	5	2838	5	ABCC1	16	16200615	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	353293	16200615	74154138	1621	77796											
GPR139	124274	broad.mit.edu	37	chr16	20084857	20084857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtagtagaccacgggcaCgaaacccaagccgcaggccg	13	14	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:20084857C>T	uc002dgu.1	-	1	244	c.82G>A	c.(82-84)GTG>ATG	p.V28M	GPR139_uc010vaw.1_Translation_Start_Site	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	28	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(2)	2						ACCACGGGCACGAAACCCAAG	0.682													T	20084857	C	T	20084857	3	4	131	1	0	0	0	0	1	0	0	0	6648	536	19	1	987	1	GPR139	16	20084857	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3884242	20084857	70269896	1622	77797											
PDILT	204474	broad.mit.edu	37	chr16	20380898	20380898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggcattttgtacctggcGtcagagctcaagtttaggat	12	7	2	1	rs150342728	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:20380898G>A	uc002dhc.1	-	8	1255	c.1032C>T	c.(1030-1032)GAC>GAT	p.D344D		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	344					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1						TGTACCTGGCGTCAGAGCTCA	0.468													A	20380898	G	A	20380898	2	1	131	1	0	0	0	0	0	0	0	1	11674	1136	40	1		1	PDILT	16	20380898	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	296041	20380898	69973855	1623	77798											
PALB2	79728	broad.mit.edu	37	chr16	23647028	23647028	+	Frame_Shift_Del	DEL	T	T	-													caggtgaagtaaatctaatgTtttttaggtcgtgagtagta							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:23647027_23647027GT>G	uc002dlx.1	-	3	1040	c.840_840AC>C	c.(838-840)aacfs	p.N280fs		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	280	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.K279K(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TAAATCTAATGTTTTTTAGGT	0.393			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					-	23647028	T	-	23647028	7	5	131	1	0	1	0	1	0	0	0	0	11406	1725	60	0	2761	0	PALB2	16	23647028	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	3266130	23647028	66707725	1624	77799											
ERN2	10595	broad.mit.edu	37	chr16	23713538	23713538	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcagttccactccccaGggtgggatggaccctcagca	11	15	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:23713538G>A	uc002dma.3	-	11	1451	c.1282C>T	c.(1282-1284)CTG>TTG	p.L428L	ERN2_uc010bxp.2_Silent_p.L428L|ERN2_uc010bxq.1_Silent_p.L236L	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	380	Lumenal (Potential).			L -> P (in Ref. 1; BAB21297).	apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCACTCCCCAGGGTGGGATGG	0.607													A	23713538	G	A	23713538	2	1	131	1	0	0	0	0	0	0	0	1	5238	991	35	4		4	ERN2	16	23713538	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	66510	23713538	66641215	1625	77800											
ERN2	10595	broad.mit.edu	37	chr16	23716327	23716327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgagccagcgtgagatgcGgcagctggcgcaggccgtcc	16	14	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:23716327G>A	uc002dma.3	-	8	1044	c.875C>T	c.(874-876)CCG>CTG	p.P292L	ERN2_uc010bxp.2_Missense_Mutation_p.P292L|ERN2_uc010bxq.1_Missense_Mutation_p.P100L	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	244	Lumenal (Potential).				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CGTGAGATGCGGCAGCTGGCG	0.677													A	23716327	G	A	23716327	3	1	131	1	0	0	0	0	1	0	0	0	5238	1116	39	1	2109	1	ERN2	16	23716327	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2789	23716327	66638426	1626	77801											
PRKCB	5579	broad.mit.edu	37	chr16	24192209	24192209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctgggatggggtgacaaCcaagacattctgtggcactc	12	10	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:24192209C>T	uc002dmd.2	+	13	1690	c.1493C>T	c.(1492-1494)ACC>ATC	p.T498I	PRKCB_uc002dme.2_Missense_Mutation_p.T498I	NM_212535	NP_997700	P05771	KPCB_HUMAN	protein kinase C, beta isoform 1	498	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)	GGGGTGACAACCAAGACATTC	0.522													T	24192209	C	T	24192209	3	4	131	1	0	0	0	0	1	0	0	0	12508	507	18	4	1543	4	PRKCB	16	24192209	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	475882	24192209	66162544	1627	77802											
RBBP6	5930	broad.mit.edu	37	chr16	24582742	24582742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttccaaagaggctagaaCgtcagataaacatgattcca	7	9	2	4	rs138495629	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:24582742C>T	uc002dmh.2	+	18	5395	c.4355C>T	c.(4354-4356)ACG>ATG	p.T1452M	RBBP6_uc002dmi.2_Missense_Mutation_p.T1418M|RBBP6_uc010bxr.2_Missense_Mutation_p.T612M|RBBP6_uc002dmk.2_Missense_Mutation_p.T1285M	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1452	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		GAGGCTAGAACGTCAGATAAA	0.398													T	24582742	C	T	24582742	3	4	131	1	0	0	0	0	1	0	0	0	13103	536	19	1	4479	1	RBBP6	16	24582742	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	390533	24582742	65772011	1628	77803											
GTF3C1	2975	broad.mit.edu	37	chr16	27561201	27561201	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtccaacaacgactccAgcgcgtccattgctacttca	6	16	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:27561201A>G	uc002dov.1	-	1	51	c.11T>C	c.(10-12)CTG>CCG	p.L4P	GTF3C1_uc002dou.2_Missense_Mutation_p.L4P|KIAA0556_uc002dow.2_5'Flank	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	4						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CAACGACTCCAGCGCGTCCAT	0.697													G	27561201	A	G	27561201	3	3	131	1	0	0	0	0	1	0	0	0	6872	188	7	3	6466	3	GTF3C1	16	27561201	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	2978459	27561201	62793552	1629	77804											
KIAA0556	23247	broad.mit.edu	37	chr16	27761168	27761168	+	Frame_Shift_Del	DEL	G	G	-													actctggagagacagacgctGggggtgactttaaaatcccc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:27761168delG	uc002dow.2	+	16	2911	c.2887delG	c.(2887-2889)GGGfs	p.G963fs		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	963										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						GACAGACGCTGGGGGTGACTT	0.582													-	27761168	G	-	27761168	7	5	131	1	0	1	0	1	0	0	0	0	8183	1348	47	0	2949	0	KIAA0556	16	27761168	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	199967	27761168	62593585	1630	77805											
CD19	930	broad.mit.edu	37	chr16	28948671	28948671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctatgagaacgactccaaCcttgggcaggaccagctctc	9	13	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:28948671C>T	uc002drs.2	+	9	1340	c.1278C>T	c.(1276-1278)AAC>AAT	p.N426N	uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.N426N	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen precursor	426	Cytoplasmic (Potential).				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3						ACGACTCCAACCTTGGGCAGG	0.632													T	28948671	C	T	28948671	2	4	131	1	0	0	0	0	0	0	0	1	2973	506	18	4		4	CD19	16	28948671	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1187503	28948671	61406082	1631	77806											
NFATC2IP	84901	broad.mit.edu	37	chr16	28967620	28967620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcttcccactcaaaatcCgttgccgggctgacctggtc	9	15	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:28967620C>T	uc002dru.2	+	5	823	c.808C>T	c.(808-810)CGT>TGT	p.R270C	uc010vct.1_Intron|NFATC2IP_uc002drt.2_Intron|NFATC2IP_uc002drv.2_5'UTR|NFATC2IP_uc010vdh.1_5'Flank	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells,	270						cytoplasm|nucleus				ovary(1)	1						ACTCAAAATCCGTTGCCGGGC	0.612													T	28967620	C	T	28967620	3	4	131	1	0	0	0	0	1	0	0	0	10363	652	23	1	826	1	NFATC2IP	16	28967620	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	18949	28967620	61387133	1632	77807											
SPN	6693	broad.mit.edu	37	chr16	29675364	29675365	+	Frame_Shift_Ins	INS	-	-	C													ccatcaagatgtcatcagtgINSccccaggaaacccctcatgc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:29675364_29675365insC	uc002dtm.2	+	2	451_452	c.315_316insC	c.(313-318)GTGCCCfs	p.V105fs	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Frame_Shift_Ins_p.V105fs|SPN_uc010bzd.2_RNA	NM_001030288	NP_001025459	P16150	LEUK_HUMAN	sialophorin precursor	105_106	Extracellular (Potential).				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)	2						TGTCATCAGTGCCCCAGGAAAC	0.515													C	29675365	-	C	29675364	7	5	131	1	0	1	1	0	0	0	0	0	15072	1306	46	0	317	0	SPN	16	29675364	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	707744	29675364	60679389	1633	77808	379	2									
SPN	6693	broad.mit.edu	37	chr16	29675365	29675366	+	Frame_Shift_Ins	INS	-	-	C													catcaagatgtcatcagtgcINScccaggaaacccctcatgca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:29675364_29675365G>GC	uc021tgd.1	+	0	315_316	c.315_316G>GC	c.(313-318)gtgcccfs	p.V105fs	BOLA2_uc010bzb.1_Intron|SPN_uc002dtm.3_Frame_Shift_Ins_p.V105fs|SPN_uc002dtn.3_Frame_Shift_Ins_p.V105fs	NM_003123	NP_003114	P16150	LEUK_HUMAN	Homo sapiens sialophorin (SPN), transcript variant 2, mRNA.	105					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						TGTCATCAGTGCCCCAGGAAAC	0.515													C	29675366	-	C	29675365	7	5	131	1	0	1	1	0	0	0	0	0	15072	739	26	0	318	0	SPN	16	29675365	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	29675365	60679388	1634	77809	379	2									
SEZ6L2	26470	broad.mit.edu	37	chr16	29884960	29884960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgtaccctggcaggcagCggtactggacgtgggagcca	17	11	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:29884960C>T	uc002duq.3	-	13	2435	c.2195G>A	c.(2194-2196)CGC>CAC	p.R732H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.R662H|SEZ6L2_uc002dur.3_Missense_Mutation_p.R662H|SEZ6L2_uc002dus.3_Missense_Mutation_p.R618H|SEZ6L2_uc010vec.1_Missense_Mutation_p.R732H|SEZ6L2_uc010ved.1_Missense_Mutation_p.R688H	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	732	Sushi 4.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						TGGCAGGCAGCGGTACTGGAC	0.667													T	29884960	C	T	29884960	3	4	131	1	0	0	0	0	1	0	0	0	14144	768	27	1	600	1	SEZ6L2	16	29884960	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	209595	29884960	60469793	1635	77810											
TAOK2	9344	broad.mit.edu	37	chr16	29997691	29997691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagctccaggccgtgcagCgcacgcgggctgagctcacc	15	16	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:29997691C>T	uc002dva.1	+	16	2881	c.2098C>T	c.(2098-2100)CGC>TGC	p.R700C	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.R700C|TAOK2_uc002dvc.1_Missense_Mutation_p.R700C|TAOK2_uc010bzm.1_Missense_Mutation_p.R707C|TAOK2_uc002dvd.1_Missense_Mutation_p.R527C	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	700	Potential.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						GGCCGTGCAGCGCACGCGGGC	0.652													T	29997691	C	T	29997691	3	4	131	1	0	0	0	0	1	0	0	0	15545	768	27	1	2156	1	TAOK2	16	29997691	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	112731	29997691	60357062	1636	77811											
CORO1A	11151	broad.mit.edu	37	chr16	30198155	30198155	+	Frame_Shift_Del	DEL	G	G	-													aggtgtgggagatcccagatGggggcctgatgctgcccctg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:30198155delG	uc002dww.2	+	4	462	c.340delG	c.(340-342)GGGfs	p.G114fs	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010vej.1_Frame_Shift_Del_p.G114fs|CORO1A_uc010bzq.2_Frame_Shift_Del_p.G114fs|CORO1A_uc010bzr.2_Frame_Shift_Del_p.G114fs|CORO1A_uc002dwx.2_Frame_Shift_Del_p.G8fs|CORO1A_uc002dwy.1_Translation_Start_Site|LOC606724_uc002dwz.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	114					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity				0						GATCCCAGATGGGGGCCTGAT	0.652													-	30198155	G	-	30198155	7	5	131	1	0	1	0	1	0	0	0	0	3753	1348	47	0	350	0	CORO1A	16	30198155	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	200464	30198155	60156598	1637	77812											
ZNF689	115509	broad.mit.edu	37	chr16	30616334	30616334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacctgtgtgtgtggtccGgtgattggccaaggaccggc	15	10	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:30616334G>A	uc002dyx.2	-	3	1074	c.754C>T	c.(754-756)CGG>TGG	p.R252W	ZNF689_uc010bzy.2_5'UTR	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	zinc finger protein HIT-39	252	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			TGTGTGGTCCGGTGATTGGCC	0.617													A	30616334	G	A	30616334	3	1	131	1	0	0	0	0	1	0	0	0	18091	1115	39	1	752	1	ZNF689	16	30616334	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	418179	30616334	59738419	1638	77813											
PHKG2	5261	broad.mit.edu	37	chr16	30767987	30767987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcaccccttctttgagcGttgtgaaggcagccaaccct	9	14	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:30767987G>A	uc002dzk.1	+	9	971	c.878G>A	c.(877-879)CGT>CAT	p.R293H	PHKG2_uc002dzi.1_Missense_Mutation_p.R297H|PHKG2_uc002dzj.1_Missense_Mutation_p.R191H	NM_000294	NP_000285	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	293					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)	1			Colorectal(24;0.198)			TTCTTTGAGCGTTGTGAAGGC	0.607													A	30767987	G	A	30767987	3	1	131	1	0	0	0	0	1	0	0	0	11847	1145	40	1	908	1	PHKG2	16	30767987	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	151653	30767987	59586766	1639	77814											
STX4	6810	broad.mit.edu	37	chr16	31050861	31050861	+	Splice_Site	DEL	G	G	-													accaccccatcctctgagcaGggggagatgatcaatcggat							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:31050860_31050860AG>A	uc002eal.3	+	9	927	c.703_splice	c.e9-2	p.G235_splice	STX4_uc002eak.3_Splice_Site_p.G233_splice|STX4_uc002eam.3_Splice_Site_p.G157_splice|BC039500_uc002ean.1_5'Flank	NM_004604	NP_004595	Q12846	STX4_HUMAN	Homo sapiens syntaxin 4 (STX4), mRNA.	235	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology.				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						TCCTCTGAGCAGGGGGAGATG	0.537													-	31050861	G	-	31050861	8	5	131	1	0	1	0	1	0	0	1	0	15346	1014	35	0	736	0	STX4	16	31050861	Splice_Site	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	282874	31050861	59303892	1640	77815											
ZNF646	9726	broad.mit.edu	37	chr16	31089180	31089180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctgcgcaaccacgtgcGggtacattgcaaggctgctc	13	14	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:31089180G>A	uc002eap.2	+	2	1824	c.1535G>A	c.(1534-1536)CGG>CAG	p.R512Q		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	512	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						AACCACGTGCGGGTACATTGC	0.627													A	31089180	G	A	31089180	3	1	131	1	0	0	0	0	1	0	0	0	18059	1116	39	1	1537	1	ZNF646	16	31089180	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	38319	31089180	59265573	1641	77816											
MYST1	84148	broad.mit.edu	37	chr16	31131804	31131804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcactcgcaaccaaaagcGcaagcatgatgagatcaacc	8	12	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:31131804G>A	uc002eay.2	+	3	449	c.431G>A	c.(430-432)CGC>CAC	p.R144H	MYST1_uc002eax.2_Missense_Mutation_p.R144H	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	MYST histone acetyltransferase 1 isoform 1	144					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding			ovary(1)	1						AACCAAAAGCGCAAGCATGAT	0.567													A	31131804	G	A	31131804	3	1	131	1	0	0	0	0	1	0	0	0	10102	1087	38	1	441	1	MYST1	16	31131804	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	42624	31131804	59222949	1642	77817											
PRSS36	146547	broad.mit.edu	37	chr16	31154777	31154777	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggccaggcccctggccgcGgggccttcccgcactctgag	15	17	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:31154777G>T	uc002ebd.2	-	8	1045	c.986C>A	c.(985-987)CCG>CAG	p.P329Q	PRSS36_uc010vff.1_Missense_Mutation_p.P104Q|PRSS36_uc010vfg.1_Missense_Mutation_p.P329Q|PRSS36_uc010vfh.1_Missense_Mutation_p.P329Q	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	protease, serine, 36 precursor	329	Peptidase S1 2.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			ovary(1)	1						CCCTGGCCGCGGGGCCTTCCC	0.667													T	31154777	G	T	31154777	3	4	131	1	0	0	0	0	1	0	0	0	12625	1116	39	5	1613	5	PRSS36	16	31154777	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	22973	31154777	59199976	1643	77818											
ITGAM	3684	broad.mit.edu	37	chr16	31309156	31309156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctaacagtgctgggggacGtaaatggggacaagctgacg	15	9	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:31309156G>A	uc002ebq.2	+	14	1686	c.1588G>A	c.(1588-1590)GTA>ATA	p.V530I	ITGAM_uc002ebr.2_Missense_Mutation_p.V531I|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Intron	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	530	FG-GAP 6.|Extracellular (Potential).|Potential.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						GCTGGGGGACGTAAATGGGGA	0.612													A	31309156	G	A	31309156	3	1	131	1	0	0	0	0	1	0	0	0	7887	1145	40	1	1645	1	ITGAM	16	31309156	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	154379	31309156	59045597	1644	77819											
N4BP1	9683	broad.mit.edu	37	chr16	48585361	48585361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagttaaagataatattcCgagctcctggagctgggtta	12	6	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:48585361C>T	uc002efp.2	-	4	2290	c.2053G>A	c.(2053-2055)GGA>AGA	p.G685R		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Nedd4 binding protein 1	685					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body					0		all_cancers(37;0.179)|all_lung(18;0.11)				GATAATATTCCGAGCTCCTGG	0.413													T	48585361	C	T	48585361	3	4	131	1	0	0	0	0	1	0	0	0	10109	661	23	1	653	1	N4BP1	16	48585361	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	17276205	48585361	41769392	1645	77820											
SNX20	124460	broad.mit.edu	37	chr16	50707922	50707922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgcgaagtcggaatagcGccgttccaggacggccttgt	13	12	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:50707922G>A	uc002egk.2	-	4	519	c.346C>T	c.(346-348)CGC>TGC	p.R116C	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	sorting nexin 20 isoform 1	116	PX.	Phosphatidylinositol 3-phosphate (By similarity).		R->Q: Decreased binding activity to all phospholipids.	cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			ovary(1)	1						TCGGAATAGCGCCGTTCCAGG	0.567													A	50707922	G	A	50707922	3	1	131	1	0	0	0	0	1	0	0	0	14892	1087	38	1	751	1	SNX20	16	50707922	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2122561	50707922	39646831	1646	77821											
CYLD	1540	broad.mit.edu	37	chr16	50826538	50826538	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctgattattcagatgcctCgatttggaaaagactttaaa	8	6	2	3	rs121908388		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:50826538C>T	uc002egp.1	+	16	2687	c.2272C>T	c.(2272-2274)CGA>TGA	p.R758*	CYLD_uc010cbs.1_Nonsense_Mutation_p.R755*|CYLD_uc002egq.1_Nonsense_Mutation_p.R755*|CYLD_uc002egr.1_Nonsense_Mutation_p.R755*	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	758					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.R758*(2)		skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				TCAGATGCCTCGATTTGGAAA	0.264			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial				T	50826538	C	T	50826538	4	4	131	1	0	0	0	0	0	1	0	0	4143	876	31	1	2326	1	CYLD	16	50826538	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	118616	50826538	39528215	1647	77822											
RBL2	5934	broad.mit.edu	37	chr16	53501054	53501054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagaagggtgactgaagttCgtgctgatactggaggactt	14	7	0	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:53501054C>T	uc002ehi.3	+	14	2066	c.1948C>T	c.(1948-1950)CGT>TGT	p.R650C	RBL2_uc010vgv.1_Missense_Mutation_p.R576C|RBL2_uc002ehj.2_Missense_Mutation_p.R360C|RBL2_uc010vgw.1_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	650	Spacer.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						GACTGAAGTTCGTGCTGATAC	0.423													T	53501054	C	T	53501054	3	4	131	1	0	0	0	0	1	0	0	0	13110	884	31	1	2002	1	RBL2	16	53501054	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2674516	53501054	36853699	1648	77823											
MMP2	4313	broad.mit.edu	37	chr16	55522591	55522591	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggcaccactgaggactaCgaccgcgacaagaagtatgg	13	11	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:55522591C>T	uc002ehz.3	+	6	1280	c.969C>T	c.(967-969)TAC>TAT	p.Y323Y	MMP2_uc010vhd.1_Silent_p.Y247Y|MMP2_uc010ccc.2_Silent_p.Y273Y	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	323	Fibronectin type-II 2.|Collagen-binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CTGAGGACTACGACCGCGACA	0.602													T	55522591	C	T	55522591	2	4	131	1	0	0	0	0	0	0	0	1	9658	547	19	1		1	MMP2	16	55522591	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2021537	55522591	34832162	1649	77824											
FAM192A	80011	broad.mit.edu	37	chr16	57201038	57201038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcctgccaacagcttcGcctgggagaacttgttcttg	10	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:57201038G>A	uc010vhk.1	-	5	708	c.449C>T	c.(448-450)GCG>GTG	p.A150V	FAM192A_uc002ekz.3_Missense_Mutation_p.A149V|FAM192A_uc002ekv.3_Missense_Mutation_p.A72V|FAM192A_uc002ekw.3_Missense_Mutation_p.A149V|FAM192A_uc002ekx.3_Missense_Mutation_p.A149V|FAM192A_uc002eky.3_Missense_Mutation_p.A149V	NM_024946	NP_079222	Q9GZU8	F192A_HUMAN	NEFA-interacting nuclear protein NIP30	150						nucleus					0						CAACAGCTTCGCCTGGGAGAA	0.438													A	57201038	G	A	57201038	3	1	131	1	0	0	0	0	1	0	0	0	5523	1087	38	1	327	1	FAM192A	16	57201038	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1678447	57201038	33153715	1650	77825											
CNGB1	1258	broad.mit.edu	37	chr16	57935308	57935308	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacagagcgaagcctcttcAgcatgtcaaagatcatctgc	8	12	5	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:57935308A>G	uc002emt.2	-	29	2989	c.2924T>C	c.(2923-2925)CTG>CCG	p.L975P	CNGB1_uc010cdh.2_Missense_Mutation_p.L969P	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	975	Helical; Name=H6; (Potential).|cAMP (By similarity).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						AAGCCTCTTCAGCATGTCAAA	0.572													G	57935308	A	G	57935308	3	3	131	1	0	0	0	0	1	0	0	0	3600	188	7	3	851	3	CNGB1	16	57935308	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	734270	57935308	32419445	1651	77826											
TPPP3	51673	broad.mit.edu	37	chr16	67424238	67424238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctggtgtccgtcagccGgtctacagcaccccctgttt	10	15	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:67424238G>A	uc002esz.2	-	3	1205	c.370C>T	c.(370-372)CGG>TGG	p.R124W	TPPP3_uc002eta.2_Missense_Mutation_p.R124W|TPPP3_uc002etb.2_Missense_Mutation_p.R124W	NM_016140	NP_057224	Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family	124					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TCCGTCAGCCGGTCTACAGCA	0.617													A	67424238	G	A	67424238	3	1	131	1	0	0	0	0	1	0	0	0	16412	1115	39	1	164	1	TPPP3	16	67424238	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	9488930	67424238	22930515	1652	77827											
HSD11B2	3291	broad.mit.edu	37	chr16	67470747	67470747	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtacttcatccactactaCctgcctgaaggcctgcggcg	9	14	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:67470747C>T	uc002etd.2	+	5	1175	c.1059C>T	c.(1057-1059)TAC>TAT	p.Y353Y		NM_000196	NP_000187	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	353					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	TCCACTACTACCTGCCTGAAG	0.642													T	67470747	C	T	67470747	2	4	131	1	0	0	0	0	0	0	0	1	7377	518	18	4		4	HSD11B2	16	67470747	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	46509	67470747	22884006	1653	77828											
CTCF	10664	broad.mit.edu	37	chr16	67670706	67670706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaccacccgccaagaagCggagaggacgaccccctggc	11	19	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:67670706C>T	uc002etl.2	+	11	2241	c.1951C>T	c.(1951-1953)CGG>TGG	p.R651W	CTCF_uc010cek.2_Missense_Mutation_p.R323W|CTCF_uc002etm.1_Missense_Mutation_p.R140W	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	651					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CGCCAAGAAGCGGAGAGGACG	0.592													T	67670706	C	T	67670706	3	4	131	1	0	0	0	0	1	0	0	0	4000	759	27	1	1985	1	CTCF	16	67670706	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	199959	67670706	22684047	1654	77829											
CENPT	80152	broad.mit.edu	37	chr16	67865197	67865197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcgggctggaggtctgcGggccaagccaggcctctgca	17	13	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:67865197G>A	uc002eun.3	-	10	1174	c.625C>T	c.(625-627)CGC>TGC	p.R209C	CENPT_uc002eum.3_Missense_Mutation_p.R209C|CENPT_uc010vkc.1_5'UTR|CENPT_uc010vkd.1_5'UTR|CENPT_uc010vke.1_Missense_Mutation_p.R106C	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	centromere protein T	209					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GGAGGTCTGCGGGCCAAGCCA	0.597													A	67865197	G	A	67865197	3	1	131	1	0	0	0	0	1	0	0	0	3242	1116	39	1	1088	1	CENPT	16	67865197	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	194491	67865197	22489556	1655	77830											
ESRP2	80004	broad.mit.edu	37	chr16	68264452	68264452	+	Frame_Shift_Del	DEL	G	G	-													ccacagtggtgggggagactGgggggctagggtgggagaga							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:68264452delG	uc010cfa.1	-	14	2122	c.1934delC	c.(1933-1935)CCAfs	p.P645fs	ESRP2_uc002evp.1_RNA|ESRP2_uc002evq.1_Frame_Shift_Del_p.P635fs	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	RNA binding motif protein 35B	645					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1						GGGGGAGACTGGGGGGCTAGG	0.592													-	68264452	G	-	68264452	7	5	131	1	0	1	0	1	0	0	0	0	5259	1348	47	0	257	0	ESRP2	16	68264452	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	399255	68264452	22090301	1656	77831											
SMPD3	55512	broad.mit.edu	37	chr16	68395144	68395144	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgaagacaccatcagtcGcatggctactggcaggtggt	12	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:68395144G>A	uc002ewa.2	-	9	2355	c.1933C>T	c.(1933-1935)CGA>TGA	p.R645*	SMPD3_uc010cfe.2_Nonsense_Mutation_p.R628*|SMPD3_uc010vlh.1_Nonsense_Mutation_p.R637*	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	645	Lumenal (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	ACCATCAGTCGCATGGCTACT	0.637													A	68395144	G	A	68395144	4	1	131	1	0	0	0	0	0	1	0	0	14806	1095	38	1	38	1	SMPD3	16	68395144	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	130692	68395144	21959609	1657	77832											
SMPD3	55512	broad.mit.edu	37	chr16	68405487	68405487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcttaatgctcccggggaCggcccgggccaccccatcgc	11	19	1	0	rs149257689		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:68405487C>T	uc002ewa.2	-	3	1020	c.598G>A	c.(598-600)GTC>ATC	p.V200I	SMPD3_uc010cfe.2_Missense_Mutation_p.V200I|SMPD3_uc010vlh.1_Missense_Mutation_p.V200I	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	200	Lumenal (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CTCCCGGGGACGGCCCGGGCC	0.652													T	68405487	C	T	68405487	3	4	131	1	0	0	0	0	1	0	0	0	14806	536	19	1	1397	1	SMPD3	16	68405487	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	10343	68405487	21949266	1658	77833											
CDH3	1001	broad.mit.edu	37	chr16	68713830	68713830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcatgttcaccattcacCggagcacaggcaccatcagc	7	16	4	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:68713830C>T	uc002ewf.2	+	7	1952	c.820C>T	c.(820-822)CGG>TGG	p.R274W	CDH3_uc010vli.1_Missense_Mutation_p.R219W	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	274	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CACCATTCACCGGAGCACAGG	0.557													T	68713830	C	T	68713830	3	4	131	1	0	0	0	0	1	0	0	0	3111	643	23	1	846	1	CDH3	16	68713830	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	308343	68713830	21640923	1659	77834											
TMCO7	79613	broad.mit.edu	37	chr16	68941412	68941412	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagggccgggtggagcatctCggggacttgctgtcccactg	16	12	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:68941412C>T	uc002ewi.3	+	10	1746	c.1734C>T	c.(1732-1734)CTC>CTT	p.L578L		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	578						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		TGGAGCATCTCGGGGACTTGC	0.488													T	68941412	C	T	68941412	2	4	131	1	0	0	0	0	0	0	0	1	15998	871	31	1		1	TMCO7	16	68941412	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	227582	68941412	21413341	1660	77835											
TMCO7	79613	broad.mit.edu	37	chr16	69117396	69117396	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctcatgcaggtgctgagCgccgtcctcaaggatctcta	10	13	4	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:69117396C>T	uc002ewi.3	+	18	3129	c.3117C>T	c.(3115-3117)AGC>AGT	p.S1039S		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	1039						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		AGGTGCTGAGCGCCGTCCTCA	0.587													T	69117396	C	T	69117396	2	4	131	1	0	0	0	0	0	0	0	1	15998	767	27	1		1	TMCO7	16	69117396	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	175984	69117396	21237357	1661	77836											
MTSS1L	92154	broad.mit.edu	37	chr16	70712206	70712206	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagaagcggccccgctcctcGatcagcgcccggcgcacggc	13	19	1	1	rs3813907		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:70712206G>A	uc002ezj.2	-	8	833	c.573C>T	c.(571-573)ATC>ATT	p.I191I	MTSS1L_uc002ezk.1_Silent_p.I108I	NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	191	IMD.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1						CCCGCTCCTCGATCAGCGCCC	0.677													A	70712206	G	A	70712206	2	1	131	1	0	0	0	0	0	0	0	1	9963	1048	37	1		1	MTSS1L	16	70712206	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1594810	70712206	19642547	1662	77837											
CHST4	10164	broad.mit.edu	37	chr16	71570593	71570593	+	Frame_Shift_Del	DEL	A	A	-													tcagcacaatgctactgcctAaaaaaatgaagctcctgctg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:71570593delA	uc002fan.2	+	2	194	c.13delA	c.(13-15)AAAfs	p.K5fs	CHST4_uc002fao.2_Frame_Shift_Del_p.K5fs	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	5	Cytoplasmic (Potential).				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity				0						GCTACTGCCTAAAAAAATGAA	0.463													-	71570593	A	-	71570593	7	5	131	1	0	1	0	1	0	0	0	0	3406	363	13	0	15	0	CHST4	16	71570593	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	858387	71570593	18784160	1663	77838											
DHX38	9785	broad.mit.edu	37	chr16	72141380	72141380	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttccacttcatggacccGcccccggaggacaacatgct	9	16	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:72141380G>A	uc002fcb.2	+	20	3097	c.2742G>A	c.(2740-2742)CCG>CCA	p.P914P	DHX38_uc010vmp.1_Silent_p.P226P	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	914					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)				TCATGGACCCGCCCCCGGAGG	0.632													A	72141380	G	A	72141380	2	1	131	1	0	0	0	0	0	0	0	1	4511	1074	38	1		1	DHX38	16	72141380	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	570787	72141380	18213373	1664	77839											
ZFHX3	463	broad.mit.edu	37	chr16	72831391	72831392	+	In_Frame_Ins	INS	-	-	TGC													gttgttgttgttgttgctgtINStgctgctgctgttgttgctg					rs144937928		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:72831391_72831392insTGC	uc002fck.2	-	9	5862_5863	c.5189_5190insGCA	c.(5188-5190)CAA>CAGCAA	p.1730_1730Q>QQ	ZFHX3_uc002fcl.2_In_Frame_Ins_p.816_816Q>QQ	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1730	Poly-Gln.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				gttgttgctgttgctgctgctg	0.401													TGC	72831392	-	TGC	72831391	7	5	131	1	0	1	1	0	0	0	0	0	17631	1722	60	0	5929	0	ZFHX3	16	72831391	In_Frame_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	690011	72831391	17523362	1665	77840	380	2									
ZFHX3	463	broad.mit.edu	37	chr16	72831392	72831393	+	In_Frame_Ins	INS	-	-	TGC													ttgttgttgttgttgctgttINSgctgctgctgttgttgctgc					rs144937928		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:72831391_72831392T>TTGC	uc002fck.3	-	8	5862_5863	c.5189_5190A>GCAA	c.(5188-5190)caa>cGCAA	p.Q1730R	ZFHX3_uc002fcl.3_In_Frame_Ins_p.Q816R	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1730	Poly-Gln.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gttgttgctgttgctgctgctg	0.525													TGC	72831393	-	TGC	72831392	7	5	131	1	0	1	1	0	0	0	0	0	17631	1812	63	0	5930	0	ZFHX3	16	72831392	In_Frame_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	72831392	17523361	1666	77841	380	2									
CNTNAP4	85445	broad.mit.edu	37	chr16	76528929	76528929	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaactgcattgattctcagTattactgcaattgtgatgct	8	7	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:76528929T>C	uc002feu.1	+	16	2588	c.2203T>C	c.(2203-2205)TAT>CAT	p.Y735H	CNTNAP4_uc002fev.1_Missense_Mutation_p.Y599H|CNTNAP4_uc010chb.1_Missense_Mutation_p.Y662H|CNTNAP4_uc002fex.1_Missense_Mutation_p.Y738H|CNTNAP4_uc002few.2_Missense_Mutation_p.Y710H	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	735	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						TGATTCTCAGTATTACTGCAA	0.363													C	76528929	T	C	76528929	3	2	131	1	0	0	0	0	1	0	0	0	3649	1638	57	3	2270	3	CNTNAP4	16	76528929	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	3697537	76528929	13825824	1667	77842											
ADAMTS18	170692	broad.mit.edu	37	chr16	77369733	77369733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaccacttcgaccaggcGgaccactggccgtggatggg	14	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:77369733G>A	uc002ffc.3	-	12	2198	c.1779C>T	c.(1777-1779)TCC>TCT	p.S593S	ADAMTS18_uc010chc.1_Silent_p.S181S|ADAMTS18_uc002ffe.1_Silent_p.S289S	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	593	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TCGACCAGGCGGACCACTGGC	0.572													A	77369733	G	A	77369733	2	1	131	1	0	0	0	0	0	0	0	1	263	1103	39	1		1	ADAMTS18	16	77369733	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	840804	77369733	12985020	1668	77843											
MBTPS1	8720	broad.mit.edu	37	chr16	84129294	84129294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagccgtctgctcgaatGccttcccgtagcatgccaga	10	15	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:84129294G>A	uc002fhi.2	-	4	1040	c.538C>T	c.(538-540)CAT>TAT	p.H180Y		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	180					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2						CTGCTCGAATGCCTTCCCGTA	0.592													A	84129294	G	A	84129294	3	1	131	1	0	0	0	0	1	0	0	0	9361	1319	46	2	2700	2	MBTPS1	16	84129294	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	6759561	84129294	6225459	1669	77844											
KIAA0182	23199	broad.mit.edu	37	chr16	85682290	85682291	+	Frame_Shift_Ins	INS	-	-	C													ggccacagcgtgcccagcacINScccccccgtggtgaccatcg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:85682289_85682290A>AC	uc002fix.3	+	2	432_433	c.358_359A>AC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688													C	85682291	-	C	85682290	7	5	131	1	0	1	1	0	0	0	0	0	8159	507	18	0	369	0	KIAA0182	16	85682290	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1552996	85682290	4672463	1670	77845											
FOXF1	2294	broad.mit.edu	37	chr16	86544636	86544636	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgccaggcgctcaagcccaTgtacagcatgatgaacgggc	12	12	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:86544636T>C	uc002fjl.2	+	1	504	c.461T>C	c.(460-462)ATG>ACG	p.M154T	uc002fjk.1_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	154					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0						CTCAAGCCCATGTACAGCATG	0.672													C	86544636	T	C	86544636	3	2	131	1	0	0	0	0	1	0	0	0	6005	1464	51	3	463	3	FOXF1	16	86544636	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	862346	86544636	3810117	1671	77846											
JPH3	57338	broad.mit.edu	37	chr16	87678038	87678038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacgcctctccggcggtggCcggcagcccggccgtgtccc	15	19	1	0	rs142120839	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:87678038C>T	uc002fkd.2	+	2	811	c.557C>T	c.(556-558)GCC>GTC	p.A186V	JPH3_uc010vou.1_RNA	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	186	Cytoplasmic (Potential).			A -> D (in Ref. 1; BAB11983).	calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CCGGCGGTGGCCGGCAGCCCG	0.697													T	87678038	C	T	87678038	3	4	131	1	0	0	0	0	1	0	0	0	7962	739	26	2	563	2	JPH3	16	87678038	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1133402	87678038	2676715	1672	77847											
C16orf7	9605	broad.mit.edu	37	chr16	89777020	89777021	+	Missense_Mutation	DNP	GC	GC	AT													cattgtggatctcctccaccGcggtcttcagctgctgcagc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr16:89777020_89777021GC>AT	uc002fom.1	-	10	1356_1357	c.1231_1232GC>AT	c.(1231-1233)GCG>ATG	p.A411M	C16orf7_uc002fol.1_Missense_Mutation_p.A341M|uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	411					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CTCCTCCACCGCGGTCTTCAGC	0.658													AT	89777021	GC	AT	89777020	3	1	131	1	0	0	0	0	1	0	0	0	1828	1087	38	1	687	1	C16orf7	16	89777020	Missense_Mutation	DNP	GC	TCGA-BR-A4QL-01A-31D-A25D-08	2098982	89777020	577733	1673	77848											
SCARF1	8578	broad.mit.edu	37	chr17	1548210	1548210	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcgtctttctggcaggcGtccggcccctcacagatggc	11	16	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:1548210G>A	uc002fsz.1	-	3	233	c.183C>T	c.(181-183)GAC>GAT	p.D61D	SCARF1_uc002fsy.1_Silent_p.D61D|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Silent_p.D61D	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	61	EGF-like 1.|Extracellular (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCTGGCAGGCGTCCGGCCCCT	0.642													A	1548210	G	A	1548210	2	1	131	1	0	0	0	0	0	0	0	1	13883	1136	40	1		1	SCARF1	17	1548210	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08		1548210	79647000	1674	77849											
WDR81	124997	broad.mit.edu	37	chr17	1637421	1637421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgtctacacccagcaccGcaagagcgtcttcttcgtgg	9	16	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:1637421G>A	uc002fti.2	+	7	1670	c.1409G>A	c.(1408-1410)CGC>CAC	p.R470H	WDR81_uc002fth.2_Missense_Mutation_p.R646H|WDR81_uc010vqp.1_Missense_Mutation_p.R494H|WDR81_uc002ftj.2_Missense_Mutation_p.R1697H|WDR81_uc010vqq.1_Missense_Mutation_p.R328H	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN	WD repeat domain 81 isoform 4	470										skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACCCAGCACCGCAAGAGCGTC	0.677													A	1637421	G	A	1637421	3	1	131	1	0	0	0	0	1	0	0	0	17327	1087	38	1	5178	1	WDR81	17	1637421	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	89211	1637421	79557789	1675	77850											
KIAA0664	23277	broad.mit.edu	37	chr17	2597526	2597526	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacgtcctcctcggtgaaCgcgggcttgtggcgactgtc	14	13	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:2597526C>T	uc002fuy.1	-	18	2951	c.2865G>A	c.(2863-2865)GCG>GCA	p.A955A	KIAA0664_uc002fux.1_Silent_p.A888A|KIAA0664_uc010ckc.1_5'UTR	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	955							binding			breast(2)	2						CCTCGGTGAACGCGGGCTTGT	0.637													T	2597526	C	T	2597526	2	4	131	1	0	0	0	0	0	0	0	1	8189	523	19	1		1	KIAA0664	17	2597526	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	960105	2597526	78597684	1676	77851											
OR1A2	26189	broad.mit.edu	37	chr17	3101552	3101552	+	Frame_Shift_Del	DEL	T	T	-													tggctcccacctcacagttgTttttttatattatggtacaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:3101552delT	uc002fvd.1	+	1	740	c.740delT	c.(739-741)GTTfs	p.V247fs		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A,	247	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						CTCACAGTTGTTTTTTTATAT	0.453													-	3101552	T	-	3101552	7	5	131	1	0	1	0	1	0	0	0	0	10950	1725	60	0	742	0	OR1A2	17	3101552	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	504026	3101552	78093658	1677	77852											
ITGAE	3682	broad.mit.edu	37	chr17	3651333	3651333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggagaccttcaggcgaaCcacaggccgggagctaaaca	12	12	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:3651333C>T	uc002fwo.3	-	17	2137	c.2038G>A	c.(2038-2040)GTT>ATT	p.V680I		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	680	FG-GAP 7.|Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TTCAGGCGAACCACAGGCCGG	0.512													T	3651333	C	T	3651333	3	4	131	1	0	0	0	0	1	0	0	0	7885	507	18	4	1561	4	ITGAE	17	3651333	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	549781	3651333	77543877	1678	77853											
CAMTA2	23125	broad.mit.edu	37	chr17	4880409	4880409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagacaggaatcggcgggctCgatactcaaagagcacagaa	13	9	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:4880409C>T	uc002gah.1	-	11	1952	c.1844G>A	c.(1843-1845)CGA>CAA	p.R615Q	CAMTA2_uc010cku.1_Missense_Mutation_p.R638Q|CAMTA2_uc002gag.1_Missense_Mutation_p.R614Q|CAMTA2_uc002gai.1_Missense_Mutation_p.R617Q|CAMTA2_uc010ckv.1_Missense_Mutation_p.R262Q	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	615	IPT/TIG.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						TCGGCGGGCTCGATACTCAAA	0.592													T	4880409	C	T	4880409	3	4	131	1	0	0	0	0	1	0	0	0	2614	884	31	1	1866	1	CAMTA2	17	4880409	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1229076	4880409	76314801	1679	77854											
CAMTA2	23125	broad.mit.edu	37	chr17	4886166	4886166	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accttcttgcgattgtagagGatgatggagccattctgagg	13	7	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:4886166G>A	uc002gah.1	-	5	333	c.225C>T	c.(223-225)ATC>ATT	p.I75I	CAMTA2_uc010cku.1_Silent_p.I98I|CAMTA2_uc002gag.1_Silent_p.I98I|CAMTA2_uc002gai.1_Silent_p.I77I|CAMTA2_uc010ckv.1_5'Flank|CAMTA2_uc010vsu.1_5'UTR	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	75	CG-1.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						GATTGTAGAGGATGATGGAGC	0.537													A	4886166	G	A	4886166	2	1	131	1	0	0	0	0	0	0	0	1	2614	1164	41	4		4	CAMTA2	17	4886166	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	5757	4886166	76309044	1680	77855											
BCL6B	255877	broad.mit.edu	37	chr17	6930069	6930069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggagcccgttttaaccGgccagcaaacctgaaaacgc	10	14	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:6930069G>A	uc002geg.2	+	7	1157	c.1100G>A	c.(1099-1101)CGG>CAG	p.R367Q	BCL6B_uc010clt.1_Missense_Mutation_p.R368Q	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	367	C2H2-type 2.					nucleus	zinc ion binding			skin(1)	1						CGTTTTAACCGGCCAGCAAAC	0.572													A	6930069	G	A	6930069	3	1	131	1	0	0	0	0	1	0	0	0	1377	1116	39	1	1122	1	BCL6B	17	6930069	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2043903	6930069	74265141	1681	77856											
PHF23	79142	broad.mit.edu	37	chr17	7139520	7139520	+	Frame_Shift_Del	DEL	G	G	-													tcttcagagtctgtatcactGgggggtgcctggggaggccc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:7139519_7139519TG>T	uc002gfa.3	-	3	954	c.727_727CA>A	c.(727-729)agtfs	p.S243fs	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Frame_Shift_Del_p.S176fs|PHF23_uc010cma.3_Frame_Shift_Del_p.S113fs	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	Homo sapiens PHD finger protein 23 (PHF23), mRNA.	243							zinc ion binding	p.P242L(1)		breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						TCTGTATCACTGGGGGGTGCC	0.552													-	7139520	G	-	7139520	7	5	131	1	0	1	0	1	0	0	0	0	11835	1335	47	0	493	0	PHF23	17	7139520	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	209451	7139520	74055690	1682	77857											
YBX2	51087	broad.mit.edu	37	chr17	7193758	7193758	+	Frame_Shift_Del	DEL	G	G	-													tggggcaactgagggaggccGggggatgaatcggcgggact							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:7193758delG	uc002gfq.2	-	5	613	c.556delC	c.(556-558)CGGfs	p.R186fs		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	186	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding				0						GAGGGAGGCCGGGGGATGAAT	0.652													-	7193758	G	-	7193758	7	5	131	1	0	1	0	1	0	0	0	0	17467	1115	39	0	554	0	YBX2	17	7193758	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	54238	7193758	74001452	1683	77858											
GPS2	2874	broad.mit.edu	37	chr17	7217257	7217258	+	Frame_Shift_Del	DEL	CT	CT	-													gggtccaaacatttgtttggCtctgtcagctgccatgaggg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:7217257_7217258delCT	uc002gfv.1	-	5	710_711	c.447_448delAG	c.(445-450)AGAGCCfs	p.R149fs	GPS2_uc002gfw.1_Frame_Shift_Del_p.R111fs|GPS2_uc002gfx.1_Frame_Shift_Del_p.R149fs|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_Frame_Shift_Del_p.R149fs	NM_004489	NP_004480	Q13227	GPS2_HUMAN	G protein pathway suppressor 2	149_150					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			ovary(2)|pancreas(1)	3		Prostate(122;0.157)				ATTTGTTTGGCTCTGTCAGCTG	0.53													-	7217258	CT	-	7217257	7	5	131	1	0	1	0	1	0	0	0	0	6733	797	28	0	559	0	GPS2	17	7217257	Frame_Shift_Del	DEL	CT	TCGA-BR-A4QL-01A-31D-A25D-08	23499	7217257	73977953	1684	77859											
GPS2	2874	broad.mit.edu	37	chr17	7231005	7231005	+	Frame_Shift_Del	DEL	C	C	-													cccagcaactgtgcgctccaCgcccacgcggtccccttcac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:7231004_7231004AC>A	uc002gga.1	-	1	489	c.482_482GT>T	c.(481-483)gtgfs	p.V161fs	GPS2_uc002ggb.1_Frame_Shift_Del_p.V161fs|GPS2_uc002ggc.1_5'Flank	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				TGTGCGCTCCACGCCCACGCG	0.652													-	7231005	C	-	7231005	7	5	131	1	0	1	0	1	0	0	0	0	6733	536	19	0		0	GPS2	17	7231005	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	13748	7231005	73964205	1685	77860											
C17orf74	201243	broad.mit.edu	37	chr17	7329696	7329696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgttcgtcgccgccgccGccgccaccgccgttgtcgcc	12	20	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:7329696G>A	uc002ggw.2	+	3	459	c.386G>A	c.(385-387)CGC>CAC	p.R129H	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	129	Arg-rich.					integral to membrane					0		Prostate(122;0.157)				cgccgccgccgccgccaccgc	0.413													A	7329696	G	A	7329696	3	1	131	1	0	0	0	0	1	0	0	0	1879	1087	38	1	396	1	C17orf74	17	7329696	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	98691	7329696	73865514	1686	77861											
ZBTB4	57659	broad.mit.edu	37	chr17	7365565	7365565	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtagaaagtgactttggcAgcccctatcccctccatccg	10	14	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:7365565A>G	uc002ghc.3	-	4	2986	c.2736T>C	c.(2734-2736)GCT>GCC	p.A912A	ZBTB4_uc002ghd.3_Silent_p.A912A	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	912					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TGACTTTGGCAGCCCCTATCC	0.642													G	7365565	A	G	7365565	2	3	131	1	0	0	0	0	0	0	0	1	17538	175	7	3		3	ZBTB4	17	7365565	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	35869	7365565	73829645	1687	77862											
POLR2A	5430	broad.mit.edu	37	chr17	7417102	7417102	+	Frame_Shift_Del	DEL	C	C	-													cccagcctcacccaagtacaCcccaaccagtccttcttaca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:7417101_7417101AC>A	uc002ghf.4	+	28	5904	c.5518_5518AC>A	c.(5518-5520)accfs	p.T1840fs		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	1840	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACCCAAGTACACCCCAACCAG	0.567													-	7417102	C	-	7417102	7	5	131	1	0	1	0	1	0	0	0	0	12214	507	18	0	5633	0	POLR2A	17	7417102	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	51537	7417102	73778108	1688	77863											
TRAPPC1	58485	broad.mit.edu	37	chr17	7833935	7833935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggttgcttcagccagcccGggcggagaagaagggcagag	17	9	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:7833935G>A	uc002gjo.1	-	4	543	c.427C>T	c.(427-429)CGG>TGG	p.R143W	KCNAB3_uc002gjm.1_5'Flank|KCNAB3_uc010vul.1_5'Flank|CNTROB_uc002gjp.2_5'Flank|CNTROB_uc002gjq.2_5'Flank	NM_021210	NP_067033	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	143					ER to Golgi vesicle-mediated transport	endoplasmic reticulum					0		Prostate(122;0.173)				CAGCCAGCCCGGGCGGAGAAG	0.597													A	7833935	G	A	7833935	3	1	131	1	0	0	0	0	1	0	0	0	16453	1115	39	1	14	1	TRAPPC1	17	7833935	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	416833	7833935	73361275	1689	77864											
ALOX12B	242	broad.mit.edu	37	chr17	7976235	7976235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccgcggggcctcctccaCgaagtgaatgtccgggaagt	13	14	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:7976235C>T	uc002gjy.1	-	15	2221	c.1960G>A	c.(1960-1962)GTG>ATG	p.V654M		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	654	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0						GCCTCCTCCACGAAGTGAATG	0.682										Multiple Myeloma(8;0.094)			T	7976235	C	T	7976235	3	4	131	1	0	0	0	0	1	0	0	0	537	536	19	1	149	1	ALOX12B	17	7976235	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	142300	7976235	73218975	1690	77865											
VAMP2	6844	broad.mit.edu	37	chr17	8065661	8065661	+	Frame_Shift_Del	DEL	G	G	-													cctccccagccggggcagcaGggggggccgtggcagcggta							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:8065660_8065660AG>A	uc010cnt.1	-	1	126	c.30_30CT>T	c.(28-30)cctfs	p.P10fs		NM_014232	NP_055047	P63027	VAMP2_HUMAN	Homo sapiens vesicle-associated membrane protein 2 (synaptobrevin 2) (VAMP2), mRNA.	10					energy reserve metabolic process|glutamate secretion|post-Golgi vesicle-mediated transport|regulation of insulin secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to plasma membrane|synaptic vesicle membrane|synaptosome										Botulinum Toxin Type B(DB00042)	CCGGGGCAGCAGGGGGGGCCG	0.697													-	8065661	G	-	8065661	7	5	131	1	0	1	0	1	0	0	0	0	17110	1000	35	0	337	0	VAMP2	17	8065661	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	89426	8065661	73129549	1691	77866											
PFAS	5198	broad.mit.edu	37	chr17	8172397	8172397	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctgaatcccaatgggtccCcagggggcgtggctggcatc	14	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:8172397C>A	uc002gkr.2	+	28	3973	c.3832C>A	c.(3832-3834)CCA>ACA	p.P1278T	PFAS_uc010vuv.1_Missense_Mutation_p.P854T|PFAS_uc002gks.2_3'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1278	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAATGGGTCCCCAGGGGGCGT	0.642													A	8172397	C	A	8172397	3	1	131	1	0	0	0	0	1	0	0	0	11754	623	22	5	3938	5	PFAS	17	8172397	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	106736	8172397	73022813	1692	77867											
ARHGEF15	22899	broad.mit.edu	37	chr17	8219412	8219412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgagcggctcccgctgccGtccttcctgctactgccctt	10	17	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:8219412G>A	uc002glc.2	+	9	1771	c.1650G>A	c.(1648-1650)CCG>CCA	p.P550P	ARHGEF15_uc002gld.2_Silent_p.P550P|ARHGEF15_uc010vuw.1_Silent_p.P439P	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	550	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						TCCCGCTGCCGTCCTTCCTGC	0.677													A	8219412	G	A	8219412	2	1	131	1	0	0	0	0	0	0	0	1	898	1132	40	1		1	ARHGEF15	17	8219412	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	47015	8219412	72975798	1693	77868											
MYH10	4628	broad.mit.edu	37	chr17	8408178	8408178	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttgggcttgtagctctcGcacaactttaagggcattgt	10	8	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:8408178G>A	uc002gll.2	-	26	3436	c.3340C>T	c.(3340-3342)CGA>TGA	p.R1114*	MYH10_uc002glm.2_Nonsense_Mutation_p.R1145*|MYH10_uc010cnx.2_Nonsense_Mutation_p.R1123*	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1114	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						TGTAGCTCTCGCACAACTTTA	0.493													A	8408178	G	A	8408178	4	1	131	1	0	0	0	0	0	1	0	0	10030	1095	38	1	2654	1	MYH10	17	8408178	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	188766	8408178	72787032	1694	77869											
MFSD6L	162387	broad.mit.edu	37	chr17	8700837	8700837	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggacaggagcaaggccaaCcagagcaacagggccacaca	12	12	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:8700837C>T	uc002glp.1	-	1	1750	c.1602G>A	c.(1600-1602)TGG>TGA	p.W534*		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing	534	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1						GCAAGGCCAACCAGAGCAACA	0.607													T	8700837	C	T	8700837	4	4	131	1	0	0	0	0	0	1	0	0	9536	508	18	4	162	4	MFSD6L	17	8700837	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	292659	8700837	72494373	1695	77870											
WDR16	146845	broad.mit.edu	37	chr17	9489257	9489257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtctggagagtacatcGcctccggacaagtcacattc	10	13	2	1	rs141718755	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:9489257G>A	uc002gly.2	+	2	307	c.238G>A	c.(238-240)GCC>ACC	p.A80T	WDR16_uc002glz.2_Intron|WDR16_uc010coc.2_Missense_Mutation_p.A90T	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN	WD40-repeat protein upregulated in HCC isoform	80	WD 1.					cytoplasm|intracellular membrane-bounded organelle	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						AGAGTACATCGCCTCCGGACA	0.478													A	9489257	G	A	9489257	3	1	131	1	0	0	0	0	1	0	0	0	17273	1087	38	1	244	1	WDR16	17	9489257	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	788420	9489257	71705953	1696	77871											
DHRS7C	201140	broad.mit.edu	37	chr17	9694592	9694592	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggagcatcagcatggccaTgactcccatcttgttctggg	13	11	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:9694592T>C	uc010vvb.1	-	1	10	c.10A>G	c.(10-12)ATG>GTG	p.M4V	DHRS7C_uc010cof.2_Missense_Mutation_p.M4V	NM_001105571	NP_001099041	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	4						extracellular region	binding|oxidoreductase activity				0						AGCATGGCCATGACTCCCATC	0.577													C	9694592	T	C	9694592	3	2	131	1	0	0	0	0	1	0	0	0	4497	1464	51	3	949	3	DHRS7C	17	9694592	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	205335	9694592	71500618	1697	77872											
MYH4	4622	broad.mit.edu	37	chr17	10348335	10348335	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcttcccacccttcagCgccagctgctcagcctcatc	6	19	4	0	rs141762664		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:10348335C>T	uc002gmn.2	-	37	5535	c.5424G>A	c.(5422-5424)GCG>GCA	p.A1808A	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1808	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						CACCCTTCAGCGCCAGCTGCT	0.557													T	10348335	C	T	10348335	2	4	131	1	0	0	0	0	0	0	0	1	10037	755	27	1		1	MYH4	17	10348335	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	653743	10348335	70846875	1698	77873											
MYH3	4621	broad.mit.edu	37	chr17	10533718	10533718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaggttcttcttcatccGctcaaggtgggcgctggtgt	12	11	4	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:10533718G>A	uc002gmq.1	-	36	5421	c.5344C>T	c.(5344-5346)CGG>TGG	p.R1782W		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1782	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TTCTTCATCCGCTCAAGGTGG	0.577													A	10533718	G	A	10533718	3	1	131	1	0	0	0	0	1	0	0	0	10036	1086	38	1	498	1	MYH3	17	10533718	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	185383	10533718	70661492	1699	77874											
MYH3	4621	broad.mit.edu	37	chr17	10533732	10533732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatccgctcaaggtgggcgCtggtgtcctgctccttcttc	11	14	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:10533732C>T	uc002gmq.1	-	36	5407	c.5330G>A	c.(5329-5331)AGC>AAC	p.S1777N		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1777	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						AAGGTGGGCGCTGGTGTCCTG	0.587													T	10533732	C	T	10533732	3	4	131	1	0	0	0	0	1	0	0	0	10036	797	28	2	512	2	MYH3	17	10533732	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	14	10533732	70661478	1700	77875											
MAP2K4	6416	broad.mit.edu	37	chr17	12011144	12011144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatggaactcatgtctacctCgtttgataagttttacaaat	6	7	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:12011144C>T	uc002gnj.2	+	5	620	c.551C>T	c.(550-552)TCG>TTG	p.S184L	MAP2K4_uc002gnk.2_Missense_Mutation_p.S195L|MAP2K4_uc010vvi.1_Missense_Mutation_p.S66L|MAP2K4_uc010vvj.1_Missense_Mutation_p.S56L	NM_003010	NP_003001	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	184	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S184L(2)|p.?(1)		large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	58		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ATGTCTACCTCGTTTGATAAG	0.299			D|Mis|N		pancreatic|breast|colorectal								T	12011144	C	T	12011144	3	4	131	1	0	0	0	0	1	0	0	0	9239	893	31	1	569	1	MAP2K4	17	12011144	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1477412	12011144	69184066	1701	77876											
MYOCD	93649	broad.mit.edu	37	chr17	12656041	12656041	+	Frame_Shift_Del	DEL	C	C	-													ggacaccttcaatgatgcctCcccctccttcggcctgcacc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:12656041delC	uc002gnn.2	+	10	1735	c.1436delC	c.(1435-1437)TCCfs	p.S479fs	MYOCD_uc002gno.2_Frame_Shift_Del_p.S479fs|MYOCD_uc002gnp.1_Frame_Shift_Del_p.S383fs|MYOCD_uc002gnq.2_Frame_Shift_Del_p.S198fs	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	479	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AATGATGCCTCCCCCTCCTTC	0.627													-	12656041	C	-	12656041	7	5	131	1	0	1	0	1	0	0	0	0	10087	855	30	0	1474	0	MYOCD	17	12656041	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	644897	12656041	68539169	1702	77877											
TRIM16	10626	broad.mit.edu	37	chr17	15554526	15554526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacagtgggctgtggtggGcagggcagtatcgccagttg	18	8	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:15554526G>A	uc002gox.2	-	4	955	c.398C>T	c.(397-399)GCC>GTC	p.A133V	TRIM16_uc002gor.1_Missense_Mutation_p.A133V|TRIM16_uc002goy.2_Intron	NM_006470	NP_006461	O95361	TRI16_HUMAN	tripartite motif-containing 16	133	B box-type 2.				histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding			ovary(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		GCTGTGGTGGGCAGGGCAGTA	0.577													A	15554526	G	A	15554526	3	1	131	1	0	0	0	0	1	0	0	0	16488	1203	42	2	1320	2	TRIM16	17	15554526	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2898485	15554526	65640684	1703	77878											
MPRIP	23164	broad.mit.edu	37	chr17	17046886	17046886	+	Frame_Shift_Del	DEL	C	C	-													acaggacttcaccaatgaagCccccccagctcctctcccag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:17046886delC	uc002gqu.1	+	9	1108	c.1052delC	c.(1051-1053)GCCfs	p.A351fs	MPRIP_uc002gqv.1_Frame_Shift_Del_p.A351fs|MPRIP_uc002gqw.1_Intron	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	351	Interaction with F-actin (By similarity).					cytoplasm|cytoskeleton	actin binding				0						ACCAATGAAGCCCCCCCAGCT	0.652													-	17046886	C	-	17046886	7	5	131	1	0	1	0	1	0	0	0	0	9743	739	26	0	1086	0	MPRIP	17	17046886	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	1492360	17046886	64148324	1704	77879											
NT5M	56953	broad.mit.edu	37	chr17	17250190	17250191	+	Frame_Shift_Ins	INS	-	-	C													ccagcacctgcagctgcagcINSccccccgccgcaggctgcac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:17250189_17250190G>GC	uc002grf.3	+	4	800_801	c.615_616G>GC	c.(613-618)cagcccfs	p.Q205fs	NT5M_uc002grg.3_Frame_Shift_Ins_p.Q211fs	NM_020201	NP_064586	Q9NPB1	NT5M_HUMAN	Homo sapiens 5',3'-nucleotidase, mitochondrial (NT5M), nuclear gene encoding mitochondrial protein, mRNA.	205					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding	p.L204P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TGCAGCTGCAGCCCCCCCGCCG	0.673													C	17250191	-	C	17250190	7	5	131	1	0	1	1	0	0	0	0	0	10694	739	26	0	634	0	NT5M	17	17250190	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	203304	17250190	63945020	1705	77880											
RAI1	10743	broad.mit.edu	37	chr17	17698048	17698048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtgagcgggactgtccgCggctgctgctcagcgccctg	17	14	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:17698048C>T	uc002grm.2	+	3	2255	c.1786C>T	c.(1786-1788)CGG>TGG	p.R596W	RAI1_uc002grn.1_Missense_Mutation_p.R596W	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	596						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GGACTGTCCGCGGCTGCTGCT	0.637													T	17698048	C	T	17698048	3	4	131	1	0	0	0	0	1	0	0	0	13007	759	27	1	1788	1	RAI1	17	17698048	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	447858	17698048	63497162	1706	77881											
MYO15A	51168	broad.mit.edu	37	chr17	18023050	18023050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctacggctacgacgattaCgaacccccatatgcgccccc	9	17	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:18023050C>T	uc010vxh.1	+	2	1274	c.936C>T	c.(934-936)TAC>TAT	p.Y312Y		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	312	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					ACGACGATTACGAACCCCCAT	0.612													T	18023050	C	T	18023050	2	4	131	1	0	0	0	0	0	0	0	1	10063	547	19	1		1	MYO15A	17	18023050	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	325002	18023050	63172160	1707	77882											
TOP3A	7156	broad.mit.edu	37	chr17	18180995	18180995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccctgcctcacctggagCggtgttctcatcgacccact	8	18	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:18180995C>T	uc002gsx.1	-	18	3050	c.2821G>A	c.(2821-2823)GCT>ACT	p.A941T	TOP3A_uc010cpz.1_Missense_Mutation_p.A393T|TOP3A_uc010vxr.1_Missense_Mutation_p.A471T|TOP3A_uc002gsw.1_Missense_Mutation_p.A393T|TOP3A_uc010vxs.1_Missense_Mutation_p.A839T	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	941					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3						TCACCTGGAGCGGTGTTCTCA	0.572													T	18180995	C	T	18180995	3	4	131	1	0	0	0	0	1	0	0	0	16364	768	27	1	192	1	TOP3A	17	18180995	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	157945	18180995	63014215	1708	77883											
MAPK7	5598	broad.mit.edu	37	chr17	19284209	19284209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacgcgctggtaccgtgcGcccgagctcatgctctcttt	11	16	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:19284209G>A	uc002gvn.2	+	4	1073	c.687G>A	c.(685-687)GCG>GCA	p.A229A	B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.3_5'Flank|MAPK7_uc002gvo.2_Silent_p.A90A|MAPK7_uc002gvq.2_Silent_p.A229A|MAPK7_uc002gvp.2_Silent_p.A229A	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	229	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GGTACCGTGCGCCCGAGCTCA	0.567													A	19284209	G	A	19284209	2	1	131	1	0	0	0	0	0	0	0	1	9282	1074	38	1		1	MAPK7	17	19284209	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1103214	19284209	61911001	1709	77884											
RNF112	7732	broad.mit.edu	37	chr17	19315988	19315988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctcccgggctgtgagccGccctgctgtcctgagtgccg	14	16	1	2	rs149061657	by1000genomes	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:19315988G>A	uc010vyw.1	+	3	472	c.273G>A	c.(271-273)CCG>CCA	p.P91P	RNF112_uc010vyu.1_Silent_p.P91P|RNF112_uc010vyv.1_Silent_p.P91P|RNF112_uc010vyx.1_Silent_p.P43P	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	91							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2						GCTGTGAGCCGCCCTGCTGTC	0.657													A	19315988	G	A	19315988	2	1	131	1	0	0	0	0	0	0	0	1	13426	1074	38	1		1	RNF112	17	19315988	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	31779	19315988	61879222	1710	77885											
ALDH3A2	224	broad.mit.edu	37	chr17	19566732	19566732	+	Frame_Shift_Del	DEL	A	A	-													ttcttccaatagtgcctgtgAaaaatgtagatgaggccata							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:19566732delA	uc002gwb.1	+	7	1248	c.1027delA	c.(1027-1029)AAAfs	p.K343fs	ALDH3A2_uc002gwa.1_Frame_Shift_Del_p.K343fs|ALDH3A2_uc010cqr.1_Frame_Shift_Del_p.K150fs|ALDH3A2_uc002gwc.1_Frame_Shift_Del_p.K343fs|ALDH3A2_uc002gwd.1_Frame_Shift_Del_p.K150fs	NM_000382	NP_000373	P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3A2 isoform 2	343	Cytoplasmic.				cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(2)	2	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	AGTGCCTGTGAAAAATGTAGA	0.363													-	19566732	A	-	19566732	7	5	131	1	0	1	0	1	0	0	0	0	498	247	9	0	1053	0	ALDH3A2	17	19566732	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	250744	19566732	61628478	1711	77886											
WSB1	26118	broad.mit.edu	37	chr17	25637145	25637145	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaaatgaccggtgggtaCgatctgtatcttttagccat	11	8	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:25637145C>T	uc002gzd.1	+	7	1259	c.943C>T	c.(943-945)CGA>TGA	p.R315*	WSB1_uc002gze.1_Nonsense_Mutation_p.R169*|WSB1_uc002gzf.1_RNA	NM_015626	NP_056441	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box-containing 1 isoform 1	315	WD 6.				intracellular signal transduction	intracellular	protein binding				0	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CCGGTGGGTACGATCTGTATC	0.418													T	25637145	C	T	25637145	4	4	131	1	0	0	0	0	0	1	0	0	17401	528	19	1	969	1	WSB1	17	25637145	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	6070413	25637145	55558065	1712	77887											
RAB34	83871	broad.mit.edu	37	chr17	27042713	27042713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgaacctctcctgcccagCggtatcccaactggaaggaa	9	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:27042713C>T	uc002hce.2	-	5	949	c.325G>A	c.(325-327)GCT>ACT	p.A109T	RAB34_uc002hcg.2_Missense_Mutation_p.A109T|RAB34_uc002hcf.2_Missense_Mutation_p.A110T|RAB34_uc010was.1_Missense_Mutation_p.A166T|RAB34_uc010wat.1_Missense_Mutation_p.A166T|RAB34_uc002hch.2_Missense_Mutation_p.A109T|RAB34_uc010wau.1_Missense_Mutation_p.A87T|RAB34_uc010wav.1_Missense_Mutation_p.A167T	NM_031934	NP_114140	Q9BZG1	RAB34_HUMAN	Ras-related protein RAB34 isoform 1	109	GTP (By similarity).				protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding				0	Lung NSC(42;0.00431)					TCCTGCCCAGCGGTATCCCAA	0.547													T	27042713	C	T	27042713	3	4	131	1	0	0	0	0	1	0	0	0	12924	768	27	1	542	1	RAB34	17	27042713	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1405568	27042713	54152497	1713	77888											
FLOT2	2319	broad.mit.edu	37	chr17	27215973	27215973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtgcttacctctgagtgtCggagatacaccaccaggccc	11	13	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:27215973C>T	uc002hdc.2	-	2	244	c.121G>A	c.(121-123)GAC>AAC	p.D41N		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	flotillin 2	41					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction					0	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CTCTGAGTGTCGGAGATACAC	0.592													T	27215973	C	T	27215973	3	4	131	1	0	0	0	0	1	0	0	0	5937	884	31	1	1205	1	FLOT2	17	27215973	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	173260	27215973	53979237	1714	77889											
PHF12	57649	broad.mit.edu	37	chr17	27233246	27233247	+	Frame_Shift_Del	DEL	GA	GA	-													acagggccctggtggggcttGagagagagcttctcggccaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:27233245_27233246TGA>T	uc002hdg.1	-	14	3500_3501	c.2970_2971TCA>A	c.(2968-2973)ctcaagfs	p.L990fs	PHF12_uc010wbb.1_Frame_Shift_Del_p.L972fs	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	990					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TGGTGGGGCTTGAGAGAGAGCT	0.604													-	27233247	GA	-	27233246	7	5	131	1	0	1	0	1	0	0	0	0	11823	1277	45	0	48	0	PHF12	17	27233246	Frame_Shift_Del	DEL	GA	TCGA-BR-A4QL-01A-31D-A25D-08	17273	27233246	53961964	1715	77890											
PHF12	57649	broad.mit.edu	37	chr17	27248714	27248714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagaaaatacctgttacaCgtgaagcagactttgacggg	11	7	0	4	rs149472520	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:27248714C>T	uc002hdg.1	-	5	1358	c.828G>A	c.(826-828)ACG>ACA	p.T276T	PHF12_uc010wbb.1_Silent_p.T258T|PHF12_uc002hdi.1_Silent_p.T272T|PHF12_uc002hdj.1_Silent_p.T276T|PHF12_uc010crw.1_Translation_Start_Site|PHF12_uc002hdh.1_Silent_p.T59T	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	276	PHD-type 2; atypical.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			ACCTGTTACACGTGAAGCAGA	0.398													T	27248714	C	T	27248714	2	4	131	1	0	0	0	0	0	0	0	1	11823	523	19	1		1	PHF12	17	27248714	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	15468	27248714	53946496	1716	77891											
SEZ6	124925	broad.mit.edu	37	chr17	27285070	27285070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcactggtaagtgaccaCggtgccgtgcactagctcag	13	11	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:27285070C>T	uc002hdp.2	-	11	2391	c.2197G>A	c.(2197-2199)GTG>ATG	p.V733M	SEZ6_uc010crx.1_5'Flank|SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.V733M|SEZ6_uc002hdq.1_Missense_Mutation_p.V608M	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	seizure related 6 homolog isoform 1	733	Extracellular (Potential).|Sushi 3.					integral to membrane|plasma membrane				large_intestine(1)|central_nervous_system(1)	2	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TAAGTGACCACGGTGCCGTGC	0.607													T	27285070	C	T	27285070	3	4	131	1	0	0	0	0	1	0	0	0	14142	536	19	1	828	1	SEZ6	17	27285070	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	36356	27285070	53910140	1717	77892											
SEZ6	124925	broad.mit.edu	37	chr17	27308688	27308688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcataggggactctgactccGgactccagggtccctccttg	12	14	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:27308688G>A	uc002hdp.2	-	2	619	c.425C>T	c.(424-426)CCG>CTG	p.P142L	SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.P142L|SEZ6_uc002hdq.1_Missense_Mutation_p.P17L|SEZ6_uc010crz.1_Missense_Mutation_p.P142L	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	seizure related 6 homolog isoform 1	142	Pro-rich.|Extracellular (Potential).					integral to membrane|plasma membrane				large_intestine(1)|central_nervous_system(1)	2	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CTCTGACTCCGGACTCCAGGG	0.647													A	27308688	G	A	27308688	3	1	131	1	0	0	0	0	1	0	0	0	14142	1116	39	1	2636	1	SEZ6	17	27308688	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	23618	27308688	53886522	1718	77893											
MYO18A	399687	broad.mit.edu	37	chr17	27493048	27493048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgggctgcaccttgagcCgcacgctgtcccctgactgc	12	15	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:27493048C>T	uc002hdt.1	-	2	1069	c.911G>A	c.(910-912)CGG>CAG	p.R304Q	MYO18A_uc010csa.1_Missense_Mutation_p.R304Q|MYO18A_uc002hdu.1_Missense_Mutation_p.R304Q	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	304	PDZ.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CACCTTGAGCCGCACGCTGTC	0.612													T	27493048	C	T	27493048	3	4	131	1	0	0	0	0	1	0	0	0	10065	652	23	1	5417	1	MYO18A	17	27493048	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	184360	27493048	53702162	1719	77894											
MYO18A	399687	broad.mit.edu	37	chr17	27493332	27493332	+	Frame_Shift_Del	DEL	G	G	-													ggtgggggcaggggcaccacGgggggcaggcgcaggtcgac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:27493332delG	uc002hdt.1	-	2	785	c.627delC	c.(625-627)CCCfs	p.P209fs	MYO18A_uc010csa.1_Frame_Shift_Del_p.P209fs|MYO18A_uc002hdu.1_Frame_Shift_Del_p.P209fs	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	209					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGGGCACCACGGGGGGCAGGC	0.662													-	27493332	G	-	27493332	7	5	131	1	0	1	0	1	0	0	0	0	10065	1103	39	0	5701	0	MYO18A	17	27493332	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	284	27493332	53701878	1720	77895											
TAOK1	57551	broad.mit.edu	37	chr17	27869613	27869613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggctttgcagaatgagcGcacagaacgaatacgaagcc	12	9	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:27869613G>A	uc002hdz.1	+	20	2773	c.2579G>A	c.(2578-2580)CGC>CAC	p.R860H	TAOK1_uc010wbe.1_Missense_Mutation_p.R712H|TAOK1_uc010wbf.1_Missense_Mutation_p.R860H	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	860	Potential.			R -> C (in Ref. 1; AAG38502).	mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)			CAGAATGAGCGCACAGAACGA	0.378													A	27869613	G	A	27869613	3	1	131	1	0	0	0	0	1	0	0	0	15544	1087	38	1	2653	1	TAOK1	17	27869613	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	376281	27869613	53325597	1721	77896											
SSH2	85464	broad.mit.edu	37	chr17	27958582	27958582	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaattaaacttaggtctgcGctacttagctgggagtcctt	9	9	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:27958582G>A	uc002heo.1	-	15	3549	c.3549C>T	c.(3547-3549)AGC>AGT	p.S1183S	SSH2_uc010wbh.1_Silent_p.S1210S	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	1183					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						TTAGGTCTGCGCTACTTAGCT	0.507													A	27958582	G	A	27958582	2	1	131	1	0	0	0	0	0	0	0	1	15184	1078	38	1		1	SSH2	17	27958582	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	88969	27958582	53236628	1722	77897											
SSH2	85464	broad.mit.edu	37	chr17	27959375	27959376	+	Frame_Shift_Ins	INS	-	-	G													gaggacaaatgaatgttctgINSggggggcttcatcacttttc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:27959374_27959375T>TG	uc002heo.1	-	14	2756_2757	c.2756_2757A>CA	c.(2755-2757)ccafs	p.P919fs	SSH2_uc010wbh.1_Frame_Shift_Ins_p.P946fs	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	919					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.48													G	27959376	-	G	27959375	7	5	131	1	0	1	1	0	0	0	0	0	15184	1348	47	0	1519	0	SSH2	17	27959375	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	793	27959375	53235835	1723	77898											
SLC6A4	6532	broad.mit.edu	37	chr17	28525491	28525491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttacacagcattcaagcGgatgtccccacaaggaattt	9	10	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:28525491G>A	uc002hey.3	-	15	2420	c.1876C>T	c.(1876-1878)CGC>TGC	p.R626C	SLC6A4_uc010csg.2_RNA	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	626	Required for serotonin uptake activity.|Cytoplasmic (Potential).				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GCATTCAAGCGGATGTCCCCA	0.438													A	28525491	G	A	28525491	3	1	131	1	0	0	0	0	1	0	0	0	14686	1116	39	1	20	1	SLC6A4	17	28525491	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	566116	28525491	52669719	1724	77899											
LRRC37B	114659	broad.mit.edu	37	chr17	30348267	30348267	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgtgggtcaaggacccGctccagctgacctctaaccc	11	15	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:30348267G>A	uc002hgu.2	+	1	113	c.102G>A	c.(100-102)CCG>CCA	p.P34P	LRRC37B_uc010wbx.1_Intron|LRRC37B_uc010csu.2_Silent_p.P34P	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	34	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TCAAGGACCCGCTCCAGCTGA	0.617													A	30348267	G	A	30348267	2	1	131	1	0	0	0	0	0	0	0	1	8994	1074	38	1		1	LRRC37B	17	30348267	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1822776	30348267	50846943	1725	77900											
RHBDL3	162494	broad.mit.edu	37	chr17	30621430	30621430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgcgagcacaggtttggCgctacctgacatacatcttc	10	12	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:30621430C>T	uc002hhe.1	+	5	651	c.637C>T	c.(637-639)CGC>TGC	p.R213C	RHBDL3_uc010csw.1_Missense_Mutation_p.R205C|RHBDL3_uc010csx.1_Missense_Mutation_p.R213C|RHBDL3_uc010csy.1_Missense_Mutation_p.R115C|RHBDL3_uc002hhf.1_Missense_Mutation_p.R115C	NM_138328	NP_612201	P58872	RHBL3_HUMAN	rhomboid protease 3	213					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)				ACAGGTTTGGCGCTACCTGAC	0.473													T	30621430	C	T	30621430	3	4	131	1	0	0	0	0	1	0	0	0	13323	768	27	1	655	1	RHBDL3	17	30621430	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	273163	30621430	50573780	1726	77901											
ZNF207	7756	broad.mit.edu	37	chr17	30687623	30687623	+	Frame_Shift_Del	DEL	A	A	-													tttttttttaacagaaagtcAaaaaaagaagcaacaagatg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:30687622_30687622CA>C	uc010csz.3	+	4	669	c.322_322CA>C	c.(322-324)caafs	p.Q108fs	ZNF207_uc002hhj.4_Frame_Shift_Del_p.Q105fs|ZNF207_uc002hhh.4_Frame_Shift_Del_p.Q105fs|ZNF207_uc002hhi.4_Frame_Shift_Del_p.Q105fs|ZNF207_uc002hhk.1_Frame_Shift_Del_p.Q105fs|ZNF207_uc002hhl.1_Non-coding_Transcript			O43670	ZN207_HUMAN	Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.	105						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AACAGAAAGTCAAAAAAAGAA	0.299													-	30687623	A	-	30687623	7	5	131	1	0	1	0	1	0	0	0	0	17762	130	5	0	328	0	ZNF207	17	30687623	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	66193	30687623	50507587	1727	77902											
PSMD11	5717	broad.mit.edu	37	chr17	30804557	30804557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacagaagcattaaaatgcGtggctcaggctagcaagaac	11	8	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:30804557G>A	uc010cta.1	+	9	908	c.868G>A	c.(868-870)GTG>ATG	p.V290M	PSMD11_uc010wbz.1_Missense_Mutation_p.V290M|PSMD11_uc002hhm.2_Missense_Mutation_p.V290M	NM_002815	NP_002806	O00231	PSD11_HUMAN	proteasome 26S non-ATPase subunit 11	290	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			ATTAAAATGCGTGGCTCAGGC	0.408													A	30804557	G	A	30804557	3	1	131	1	0	0	0	0	1	0	0	0	12694	1145	40	1	902	1	PSMD11	17	30804557	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	116934	30804557	50390653	1728	77903											
ZNF830	91603	broad.mit.edu	37	chr17	33289371	33289371	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagatgcaagagtacgaaaGgttgatgctccaaaagatca	11	6	1	4	rs138078734	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:33289371G>T	uc002hih.3	+	1	823	c.786G>T	c.(784-786)AAG>AAT	p.K262N	CCT6B_uc002hig.2_5'Flank|CCT6B_uc010ctg.2_5'Flank|CCT6B_uc010wcc.1_5'Flank	NM_052857	NP_443089	Q96NB3	ZN830_HUMAN	coiled-coil domain containing 16	262					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)	1		Ovarian(249;0.17)				GAGTACGAAAGGTTGATGCTC	0.463													T	33289371	G	T	33289371	3	4	131	1	0	0	0	0	1	0	0	0	18181	991	35	5	788	5	ZNF830	17	33289371	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2484814	33289371	47905839	1729	77904											
AMAC1	146861	broad.mit.edu	37	chr17	33521221	33521221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagcaggccactggtggCatcagagggctggcagcgct	15	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:33521221C>T	uc002hjd.2	-	1	192	c.106G>A	c.(106-108)GCC>ACC	p.A36T		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	36						integral to membrane					0				BRCA - Breast invasive adenocarcinoma(366;0.0917)		CCACTGGTGGCATCAGAGGGC	0.667													T	33521221	C	T	33521221	3	4	131	1	0	0	0	0	1	0	0	0	559	710	25	2	914	2	AMAC1	17	33521221	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	231850	33521221	47673989	1730	77905											
SLFN12	55106	broad.mit.edu	37	chr17	33749996	33749996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaagagtgactcttcccaCatctagaaccaactcggcat	6	14	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:33749996C>T	uc002hji.3	-	2	429	c.52G>A	c.(52-54)GTG>ATG	p.V18M	SLFN12_uc002hjj.3_Missense_Mutation_p.V18M|SLFN12_uc010cts.2_Missense_Mutation_p.V18M	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	schlafen family member 12	18							ATP binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACTCTTCCCACATCTAGAACC	0.393													T	33749996	C	T	33749996	3	4	131	1	0	0	0	0	1	0	0	0	14734	478	17	4	1696	4	SLFN12	17	33749996	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	228775	33749996	47445214	1731	77906											
HNF1B	6928	broad.mit.edu	37	chr17	36059174	36059174	+	Frame_Shift_Del	DEL	G	G	-													ccgggaggtgtgggaatactGggggggttcctgcttgtgtg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:36059174delG	uc002hok.3	-	8	1782	c.1561delC	c.(1561-1563)CAGfs	p.Q521fs	HNF1B_uc010wdi.1_Frame_Shift_Del_p.Q495fs	NM_000458	NP_000449	P35680	HNF1B_HUMAN	hepatocyte nuclear factor 1-beta isoform 1	521					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGGGAATACTGGGGGGGTTCC	0.517									Hereditary_Prostate_Cancer				-	36059174	G	-	36059174	7	5	131	1	0	1	0	1	0	0	0	0	7252	1357	47	0	120	0	HNF1B	17	36059174	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	2309178	36059174	45136036	1732	77907											
CASC3	22794	broad.mit.edu	37	chr17	38319960	38319960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgggcagcatggtggcCggtctggtgagactgttaag	18	7	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:38319960C>T	uc010cwt.1	+	7	1307	c.1012C>T	c.(1012-1014)CGG>TGG	p.R338W	CASC3_uc010cws.1_Missense_Mutation_p.R338W|CASC3_uc002hue.2_Missense_Mutation_p.R338W	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	338					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						GCATGGTGGCCGGTCTGGTGA	0.557													T	38319960	C	T	38319960	3	4	131	1	0	0	0	0	1	0	0	0	2661	643	23	1	1038	1	CASC3	17	38319960	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2260786	38319960	42875250	1733	77908											
KRT27	342574	broad.mit.edu	37	chr17	38938526	38938526	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggccgtgctcattccCtgtgaaggcagcacaggaag	15	10	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:38938526C>A	uc002hvg.2	-	1	261	c.220G>T	c.(220-222)GGG>TGG	p.G74W		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	74	Head.|Gly-rich.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)				TGCTCATTCCCTGTGAAGGCA	0.582													A	38938526	C	A	38938526	3	1	131	1	0	0	0	0	1	0	0	0	8464	681	24	5	1191	5	KRT27	17	38938526	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	618566	38938526	42256684	1734	77909											
KRT39	390792	broad.mit.edu	37	chr17	39116561	39116561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagctctccagaaggctgcGgtatgtggtaatctcacatt	11	10	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:39116561G>A	uc002hvo.1	-	6	1225	c.1189C>T	c.(1189-1191)CGC>TGC	p.R397C	KRT39_uc010wfm.1_Missense_Mutation_p.R130C	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	397	Coil 2.|Rod.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)				AGAAGGCTGCGGTATGTGGTA	0.478													A	39116561	G	A	39116561	3	1	131	1	0	0	0	0	1	0	0	0	8476	1116	39	1	294	1	KRT39	17	39116561	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	178035	39116561	42078649	1735	77910											
KRT31	3881	broad.mit.edu	37	chr17	39551220	39551220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtcactgcggatctccGccagctgggactccacgttg	12	15	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:39551220G>A	uc002hwn.2	-	6	1030	c.977C>T	c.(976-978)GCG>GTG	p.A326V	KRT31_uc010cxn.2_Missense_Mutation_p.A326V	NM_002277	NP_002268	Q15323	K1H1_HUMAN	keratin 31	326	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000496)				GCGGATCTCCGCCAGCTGGGA	0.617													A	39551220	G	A	39551220	3	1	131	1	0	0	0	0	1	0	0	0	8467	1087	38	1	281	1	KRT31	17	39551220	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	434659	39551220	41643990	1736	77911											
KRT17	3872	broad.mit.edu	37	chr17	39777997	39777997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccacctggcctcgcagggCgttcatctcctatggaaaaa	9	14	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:39777997C>T	uc002hxh.2	-	4	803	c.682G>A	c.(682-684)GCC>ACC	p.A228T	JUP_uc010wfs.1_Intron	NM_000422	NP_000413	Q04695	K1C17_HUMAN	keratin 17	228	Coil 1B.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2		Breast(137;0.000307)				CCTCGCAGGGCGTTCATCTCC	0.597									Steatocystoma_Multiplex				T	39777997	C	T	39777997	3	4	131	1	0	0	0	0	1	0	0	0	8454	768	27	1	636	1	KRT17	17	39777997	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	226777	39777997	41417213	1737	77912											
KCNH4	23415	broad.mit.edu	37	chr17	40328259	40328259	+	Frame_Shift_Del	DEL	C	C	-													tggaggaggaggcagcgagaCccccccacggaggccacctt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:40328258_40328258AC>A	uc002hzb.2	-	4	976	c.643_643GT>T	c.(643-645)tctfs	p.S215fs		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	215					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCAGCGAGACCCCCCCACG	0.602													-	40328259	C	-	40328259	7	5	131	1	0	1	0	1	0	0	0	0	8034	494	18	0	2459	0	KCNH4	17	40328259	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	550262	40328259	40866951	1738	77913											
STAT5A	6776	broad.mit.edu	37	chr17	40453375	40453375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtacgcctgctggtgggcGggaagctgaacgtgcacatg	16	11	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:40453375G>A	uc002hzj.1	+	10	1714	c.1072G>A	c.(1072-1074)GGG>AGG	p.G358R	STAT5A_uc010cya.1_Missense_Mutation_p.G358R|STAT5A_uc010cyb.1_Missense_Mutation_p.G358R|STAT5A_uc010cyc.1_Missense_Mutation_p.G328R	NM_003152	NP_003143	P42229	STA5A_HUMAN	signal transducer and activator of transcription	358					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GCTGGTGGGCGGGAAGCTGAA	0.557													A	40453375	G	A	40453375	3	1	131	1	0	0	0	0	1	0	0	0	15267	1116	39	1	1102	1	STAT5A	17	40453375	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	125116	40453375	40741835	1739	77914											
HSD17B1	3292	broad.mit.edu	37	chr17	40705488	40705488	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgggcctgctggggccGctggaggcgctgggggagga	23	10	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:40705488G>A	uc002hzw.2	+	3	1265	c.297G>A	c.(295-297)CCG>CCA	p.P99P	HSD17B1_uc002hzx.2_Silent_p.P99P|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_Silent_p.S31S|HSD17B1_uc010cyi.2_Silent_p.P130P	NM_000413	NP_000404	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	99					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity				0		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	TGCTGGGGCCGCTGGAGGCGC	0.672													A	40705488	G	A	40705488	2	1	131	1	0	0	0	0	0	0	0	1	7378	1074	38	1		1	HSD17B1	17	40705488	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	252113	40705488	40489722	1740	77915											
TUBG1	7283	broad.mit.edu	37	chr17	40765935	40765935	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacatgaacaatgacctcatCggcctcatcgcctcgctcat	6	15	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:40765935C>T	uc002ian.2	+	8	1160	c.762C>T	c.(760-762)ATC>ATT	p.I254I		NM_001070	NP_001061	P23258	TBG1_HUMAN	tubulin, gamma 1	254					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		ATGACCTCATCGGCCTCATCG	0.592													T	40765935	C	T	40765935	2	4	131	1	0	0	0	0	0	0	0	1	16761	874	31	1		1	TUBG1	17	40765935	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	60447	40765935	40429275	1741	77916											
TUBG2	27175	broad.mit.edu	37	chr17	40814996	40814996	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgtatacacacagggcttCgtgctgtgtcactccatcgc	9	14	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:40814996C>T	uc010wgr.1	+	5	661	c.405C>T	c.(403-405)TTC>TTT	p.F135F	TUBG2_uc002iaq.2_5'UTR|TUBG2_uc002iar.2_Intron|TUBG2_uc002ias.2_5'UTR|TUBG2_uc002iap.2_Intron	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	135					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CACAGGGCTTCGTGCTGTGTC	0.348													T	40814996	C	T	40814996	2	4	131	1	0	0	0	0	0	0	0	1	16762	883	31	1		1	TUBG2	17	40814996	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	49061	40814996	40380214	1742	77917											
CNTNAP1	8506	broad.mit.edu	37	chr17	40844682	40844682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccggccctgggttctgcGgcctatgccactgcagacct	11	16	2	1	rs144243880		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:40844682G>A	uc002iay.2	+	17	2912	c.2696G>A	c.(2695-2697)CGG>CAG	p.R899Q	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	899	Laminin G-like 3.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGGGTTCTGCGGCCTATGCCA	0.577													A	40844682	G	A	40844682	3	1	131	1	0	0	0	0	1	0	0	0	3646	1116	39	1	2762	1	CNTNAP1	17	40844682	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	29686	40844682	40350528	1743	77918											
WNK4	65266	broad.mit.edu	37	chr17	40939870	40939871	+	Frame_Shift_Ins	INS	-	-	G													ccctgcccttcagccccctgINSggggggtgccatccagcctg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:40939869_40939870T>TG	uc002ibj.3	+	7	1883_1884	c.1815_1816T>TG	c.(1813-1818)cctgggfs	p.P605fs	WNK4_uc010wgx.2_Frame_Shift_Ins_p.P269fs|WNK4_uc002ibk.1_Frame_Shift_Ins_p.P377fs|WNK4_uc010wgy.1_Intron	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	605					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.L605I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCAGCCCCCTGGGGGGGTGCC	0.634													G	40939871	-	G	40939870	7	5	131	1	0	1	1	0	0	0	0	0	17377	1348	47	0	1846	0	WNK4	17	40939870	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	95188	40939870	40255340	1744	77919											
AOC3	8639	broad.mit.edu	37	chr17	41004138	41004138	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttgaccctgcccgctggActatccagaaggtgttctat	9	14	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:41004138A>G	uc002ibv.2	+	1	938	c.778A>G	c.(778-780)ACT>GCT	p.T260A		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	260	Extracellular (Potential).				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			central_nervous_system(2)|ovary(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TGCCCGCTGGACTATCCAGAA	0.597													G	41004138	A	G	41004138	3	3	131	1	0	0	0	0	1	0	0	0	728	275	10	3	780	3	AOC3	17	41004138	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	64268	41004138	40191072	1745	77920											
AOC3	8639	broad.mit.edu	37	chr17	41004674	41004674	+	Frame_Shift_Del	DEL	C	C	-													tttgaacagaaccagggcctCcccctgcggcgacaccactc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:41004673_41004673TC>T	uc002ibv.3	+	0	1473	c.1313_1313TC>T	c.(1312-1314)ctcfs	p.L438fs		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	438					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)	AACCAGGGCCTCCCCCTGCGG	0.552													-	41004674	C	-	41004674	7	5	131	1	0	1	0	1	0	0	0	0	728	842	30	0	1316	0	AOC3	17	41004674	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	536	41004674	40190536	1746	77921											
AOC3	8639	broad.mit.edu	37	chr17	41006671	41006671	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtggggtcacccccggggcTaccgcatccagatgctcagc	13	15	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:41006671T>A	uc002ibv.2	+	2	1967	c.1807T>A	c.(1807-1809)TAC>AAC	p.Y603N		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	603	Extracellular (Potential).				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			central_nervous_system(2)|ovary(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CCCCCGGGGCTACCGCATCCA	0.647													A	41006671	T	A	41006671	3	1	131	1	0	0	0	0	1	0	0	0	728	1522	53	5	1813	5	AOC3	17	41006671	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1997	41006671	40188539	1747	77922											
AARSD1	80755	broad.mit.edu	37	chr17	41108509	41108509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgacgctctgctcaatgGcagctacttgctctgcagtc	9	13	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:41108509G>A	uc002icc.2	-	5	461	c.458C>T	c.(457-459)GCC>GTC	p.A153V	AARSD1_uc002icd.2_Missense_Mutation_p.A266V|AARSD1_uc002ice.2_Missense_Mutation_p.A236V|AARSD1_uc002icf.2_Missense_Mutation_p.A327V|AARSD1_uc010whg.1_Missense_Mutation_p.A327V|AARSD1_uc010cyu.1_Missense_Mutation_p.A153V	NM_025267	NP_079543	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	153					alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding				0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CTGCTCAATGGCAGCTACTTG	0.488													A	41108509	G	A	41108509	3	1	131	1	0	0	0	0	1	0	0	0	21	1203	42	2	812	2	AARSD1	17	41108509	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	101838	41108509	40086701	1748	77923											
RUNDC1	146923	broad.mit.edu	37	chr17	41141481	41141481	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagatcgtcaacccagccCgagtcaaagaacagttggtt	9	12	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:41141481C>T	uc002ici.1	+	3	793	c.781C>T	c.(781-783)CGA>TGA	p.R261*	RUNDC1_uc010whi.1_Nonsense_Mutation_p.R31*	NM_173079	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	261											0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CAACCCAGCCCGAGTCAAAGA	0.483													T	41141481	C	T	41141481	4	4	131	1	0	0	0	0	0	1	0	0	13742	644	23	1	791	1	RUNDC1	17	41141481	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	32972	41141481	40053729	1749	77924											
NBR1	4077	broad.mit.edu	37	chr17	41343459	41343459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgagctgagaagaaacaaCgtaaagcagaggtcaaggaa	13	6	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:41343459C>T	uc010czd.2	+	10	1074	c.934C>T	c.(934-936)CGT>TGT	p.R312C	NBR1_uc010diz.2_Missense_Mutation_p.R312C|NBR1_uc010whu.1_Missense_Mutation_p.R312C|NBR1_uc010whv.1_Missense_Mutation_p.R312C|NBR1_uc010whw.1_Missense_Mutation_p.R291C|NBR1_uc010whx.1_Missense_Mutation_p.R121C	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	312					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GAAGAAACAACGTAAAGCAGA	0.403													T	41343459	C	T	41343459	3	4	131	1	0	0	0	0	1	0	0	0	10200	536	19	1	968	1	NBR1	17	41343459	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	201978	41343459	39851751	1750	77925											
UBTF	7343	broad.mit.edu	37	chr17	42288502	42288502	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcccccaagacccgctgctGctcctcctcaggcaggctct	8	19	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:42288502G>C	uc002igb.2	-	11	1175	c.1108C>G	c.(1108-1110)CAG>GAG	p.Q370E	UBTF_uc002igc.2_Missense_Mutation_p.Q333E|UBTF_uc010czs.2_Missense_Mutation_p.Q370E|UBTF_uc002igd.2_Missense_Mutation_p.Q333E|UBTF_uc010czt.2_Missense_Mutation_p.Q370E|UBTF_uc002ige.2_Missense_Mutation_p.Q333E	NM_014233	NP_055048	P17480	UBF1_HUMAN	upstream binding transcription factor, RNA	370					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ACCCGCTGCTGCTCCTCCTCA	0.637													C	42288502	G	C	42288502	3	2	131	1	0	0	0	0	1	0	0	0	16906	1328	46	5	1226	5	UBTF	17	42288502	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	945043	42288502	38906708	1751	77926											
SLC4A1	6521	broad.mit.edu	37	chr17	42330695	42330695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaggtccaggtggaagCcggagcccttgaccatcttg	14	12	1	1	rs121912748		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:42330695C>T	uc002igf.3	-	17	2251	c.2102G>A	c.(2101-2103)GGC>GAC	p.G701D		NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	701	Membrane (anion exchange).|Helical; (Potential).		G -> D (in AR-dRTA).		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAGGTGGAAGCCGGAGCCCTT	0.637													T	42330695	C	T	42330695	3	4	131	1	0	0	0	0	1	0	0	0	14650	739	26	2	649	2	SLC4A1	17	42330695	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	42193	42330695	38864515	1752	77927											
FZD2	2535	broad.mit.edu	37	chr17	42636425	42636425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagaccgaaaagctggagCggctcatggtgcgcatcggc	14	12	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:42636425C>T	uc002igx.1	+	1	1501	c.1369C>T	c.(1369-1371)CGG>TGG	p.R457W		NM_001466	NP_001457	Q14332	FZD2_HUMAN	frizzled 2 precursor	457	Cytoplasmic (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AAAGCTGGAGCGGCTCATGGT	0.617													T	42636425	C	T	42636425	3	4	131	1	0	0	0	0	1	0	0	0	6130	759	27	1	1371	1	FZD2	17	42636425	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	305730	42636425	38558785	1753	77928											
PLCD3	113026	broad.mit.edu	37	chr17	43192542	43192542	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggggcgttgggggcagggTgcagggtcgcaggcgggtgg	26	6	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:43192542T>G	uc002iib.2	-	11	1745	c.1631A>C	c.(1630-1632)CAC>CCC	p.H544P		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	544	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	GGGGGCAGGGTGCAGGGTCGC	0.672													G	43192542	T	G	43192542	3	3	131	1	0	0	0	0	1	0	0	0	12032	1696	59	5	762	5	PLCD3	17	43192542	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	556117	43192542	38002668	1754	77929											
TBKBP1	9755	broad.mit.edu	37	chr17	45786619	45786619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcccctcagcccgcggcGcgccttcgagggcatccggc	14	19	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:45786619G>A	uc002ilu.2	+	8	2369	c.1520G>A	c.(1519-1521)CGC>CAC	p.R507H		NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	507					innate immune response						0						AGCCCGCGGCGCGCCTTCGAG	0.751													A	45786619	G	A	45786619	3	1	131	1	0	0	0	0	1	0	0	0	15635	1087	38	1	1550	1	TBKBP1	17	45786619	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2594077	45786619	35408591	1755	77930											
HOXB5	3215	broad.mit.edu	37	chr17	46670643	46670643	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgaggacgcgctggcctcGtctatttcggtgaaattggc	13	11	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:46670643G>A	uc002inr.2	-	1	461	c.402C>T	c.(400-402)GAC>GAT	p.D134D		NM_002147	NP_002138	P09067	HXB5_HUMAN	homeobox B5	134						nucleus	sequence-specific DNA binding				0						CGCTGGCCTCGTCTATTTCGG	0.682													A	46670643	G	A	46670643	2	1	131	1	0	0	0	0	0	0	0	1	7304	1136	40	1		1	HOXB5	17	46670643	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	884024	46670643	34524567	1756	77931											
HOXB6	3216	broad.mit.edu	37	chr17	46674002	46674002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaacgtgtgtatgtctggcGgcctcgccggccgctgggcc	16	13	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:46674002G>A	uc002ins.1	-	4	773	c.448C>T	c.(448-450)CGC>TGC	p.R150C	HOXB5_uc002inr.2_5'Flank|HOXB6_uc010dbh.1_Missense_Mutation_p.R150C|HOXB6_uc002int.1_3'UTR	NM_018952	NP_061825	P17509	HXB6_HUMAN	homeobox B6	150	Homeobox.			GR -> A (in Ref. 7; AAA36004).	anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TATGTCTGGCGGCCTCGCCGG	0.657													A	46674002	G	A	46674002	3	1	131	1	0	0	0	0	1	0	0	0	7305	1116	39	1	230	1	HOXB6	17	46674002	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	3359	46674002	34521208	1757	77932											
COL1A1	1277	broad.mit.edu	37	chr17	48267382	48267382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggggccagggggtccagCgggtccggcagggccagggg	22	10	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:48267382C>T	uc002iqm.2	-	36	2665	c.2539G>A	c.(2539-2541)GCT>ACT	p.A847T		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	847	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	GGGGGTCCAGCGGGTCCGGCA	0.672			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						T	48267382	C	T	48267382	3	4	131	1	0	0	0	0	1	0	0	0	3677	768	27	1	1919	1	COL1A1	17	48267382	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1593380	48267382	32927828	1758	77933											
XYLT2	64132	broad.mit.edu	37	chr17	48434499	48434499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctacctggtgacgcaggcGgtgcagccctcagcccaggg	16	14	1	1	rs145129008		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:48434499G>A	uc002iqo.2	+	9	1936	c.1827G>A	c.(1825-1827)GCG>GCA	p.A609A	XYLT2_uc010dbo.2_Intron	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	609	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			pancreas(1)	1	Breast(11;7.18e-19)					TGACGCAGGCGGTGCAGCCCT	0.647													A	48434499	G	A	48434499	2	1	131	1	0	0	0	0	0	0	0	1	17461	1103	39	1		1	XYLT2	17	48434499	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	167117	48434499	32760711	1759	77934											
EPN3	55040	broad.mit.edu	37	chr17	48618282	48618282	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactcccatgctctcctccTctgagccctggggcaggacc	10	17	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:48618282T>G	uc002ira.3	+	7	1543	c.1108T>G	c.(1108-1110)TCT>GCT	p.S370A	SPATA20_uc002irc.2_5'Flank|EPN3_uc010wms.1_Missense_Mutation_p.S398A|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.S343A	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	epsin 3	370	5 X 3 AA repeats of [DE]-P-W.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			ovary(1)	1	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GCTCTCCTCCTCTGAGCCCTG	0.677													G	48618282	T	G	48618282	3	3	131	1	0	0	0	0	1	0	0	0	5187	1551	54	5	1130	5	EPN3	17	48618282	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	183783	48618282	32576928	1760	77935											
KIF2B	84643	broad.mit.edu	37	chr17	51901717	51901717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggacggataatgcatggCaagttttccctcgttgattt	10	8	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:51901717C>T	uc002iua.2	+	1	1479	c.1323C>T	c.(1321-1323)GGC>GGT	p.G441G	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	441	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						TAATGCATGGCAAGTTTTCCC	0.507													T	51901717	C	T	51901717	2	4	131	1	0	0	0	0	0	0	0	1	8298	697	25	2		2	KIF2B	17	51901717	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3283435	51901717	29293493	1761	77936											
TOM1L1	10040	broad.mit.edu	37	chr17	53014489	53014489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactaccagtgagccttctgCcccatctcaagatctcctcg	7	16	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:53014489C>T	uc002iud.2	+	10	1110	c.935C>T	c.(934-936)GCC>GTC	p.A312V	TOM1L1_uc002iuc.2_Missense_Mutation_p.A312V|TOM1L1_uc010dca.1_Missense_Mutation_p.A312V|TOM1L1_uc010wnb.1_Missense_Mutation_p.A305V|TOM1L1_uc010wnc.1_Missense_Mutation_p.A235V|TOM1L1_uc010dbz.2_Missense_Mutation_p.A235V|TOM1L1_uc010wnd.1_Missense_Mutation_p.A200V|TOM1L1_uc010dcb.1_RNA	NM_005486	NP_005477	O75674	TM1L1_HUMAN	target of myb1-like 1	312					intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			ovary(1)	1						GAGCCTTCTGCCCCATCTCAA	0.453													T	53014489	C	T	53014489	3	4	131	1	0	0	0	0	1	0	0	0	16349	739	26	2	973	2	TOM1L1	17	53014489	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1112772	53014489	28180721	1762	77937											
VEZF1	7716	broad.mit.edu	37	chr17	56056587	56056588	+	In_Frame_Ins	INS	-	-	TGT													ccctggccagcttgtcacatINSgttgttgttgttgttgttgc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:56056586_56056587A>ATGT	uc002ivf.1	-	4	1207_1208	c.1064_1065T>ACAT	c.(1063-1065)cat>cACAT	p.H355H	VEZF1_uc010dcn.1_In_Frame_Ins_p.H205H	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.	355					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						AGCTTGTCACAtgttgttgttg	0.475													TGT	56056588	-	TGT	56056587	7	5	131	1	0	1	1	0	0	0	0	0	17152	1464	51	0	509	0	VEZF1	17	56056587	In_Frame_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	3042098	56056587	25138623	1763	77938											
VEZF1	7716	broad.mit.edu	37	chr17	56056610	56056610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgttgttgttgttgctgCtgctgctgctgctgctgctg	14	8	0	0	rs145983359	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:56056610C>T	uc002ivf.1	-	5	1184	c.1041G>A	c.(1039-1041)CAG>CAA	p.Q347Q	VEZF1_uc010dcn.1_Silent_p.Q197Q	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	zinc finger protein 161	347	Poly-Gln.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2						gttgttgctgctgctgctgct	0.303													T	56056610	C	T	56056610	2	4	131	1	0	0	0	0	0	0	0	1	17152	796	28	2		2	VEZF1	17	56056610	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	23	56056610	25138600	1764	77939											
OR4D1	26689	broad.mit.edu	37	chr17	56233200	56233200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgatgctgaggtcccactCgggaaaggcaaggaggaagg	18	7	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:56233200C>T	uc010wno.1	+	1	686	c.686C>T	c.(685-687)TCG>TTG	p.S229L	MSX2P1_uc002ivn.2_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AGGTCCCACTCGGGAAAGGCA	0.507													T	56233200	C	T	56233200	3	4	131	1	0	0	0	0	1	0	0	0	11053	893	31	1	688	1	OR4D1	17	56233200	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	176590	56233200	24962010	1765	77940											
MKS1	54903	broad.mit.edu	37	chr17	56291642	56291642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatagggccccaggtctgCcatgatgtgcattgtctgaa	11	9	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:56291642C>T	uc002ivr.1	-	6	697	c.622G>A	c.(622-624)GCA>ACA	p.A208T	MKS1_uc010wnq.1_Missense_Mutation_p.A5T|MKS1_uc002ivs.1_Missense_Mutation_p.A208T	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome type 1 protein isoform 1	208					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1						CCCAGGTCTGCCATGATGTGC	0.522													T	56291642	C	T	56291642	3	4	131	1	0	0	0	0	1	0	0	0	9609	739	26	2	1109	2	MKS1	17	56291642	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	58442	56291642	24903568	1766	77941											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	131	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	143519	56435161	24760049	1767	77942											
RAD51C	5889	broad.mit.edu	37	chr17	56811500	56811500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagggatttagagatactGttgttacttctgcatgttca	9	7	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:56811500G>A	uc002iwu.2	+	9	1090	c.1048G>A	c.(1048-1050)GTT>ATT	p.V350I	RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_RNA	NM_058216	NP_478123	O43502	RA51C_HUMAN	RAD51 homolog C isoform 1	350					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TAGAGATACTGTTGTTACTTC	0.348								Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2				A	56811500	G	A	56811500	3	1	131	1	0	0	0	0	1	0	0	0	12988	1377	48	4	1086	4	RAD51C	17	56811500	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	376339	56811500	24383710	1768	77943											
TBX4	9496	broad.mit.edu	37	chr17	59560345	59560345	+	Frame_Shift_Del	DEL	C	C	-													ggaggatcactatttccgttCcccccctccctacgaccagc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:59560345delC	uc002izi.2	+	8	1151	c.1106delC	c.(1105-1107)TCCfs	p.S369fs	TBX4_uc010ddo.2_Frame_Shift_Del_p.S370fs|TBX4_uc010woy.1_Frame_Shift_Del_p.S370fs	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	369					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						TATTTCCGTTCCCCCCCTCCC	0.577													-	59560345	C	-	59560345	7	5	131	1	0	1	0	1	0	0	0	0	15657	855	30	0	1136	0	TBX4	17	59560345	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	2748845	59560345	21634865	1769	77944											
TLK2	11011	broad.mit.edu	37	chr17	60598172	60598172	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttccaaccagagcttgtgCagcgtcggatccttgagtga	11	11	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:60598172C>T	uc010ddp.2	+	3	388	c.120C>T	c.(118-120)TGC>TGT	p.C40C	TLK2_uc002izx.3_5'UTR|TLK2_uc002izz.3_Silent_p.C40C|TLK2_uc002jaa.3_Silent_p.C40C|TLK2_uc010wpd.1_Silent_p.C40C	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	40					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2						AGAGCTTGTGCAGCGTCGGAT	0.323													T	60598172	C	T	60598172	2	4	131	1	0	0	0	0	0	0	0	1	15941	718	25	2		2	TLK2	17	60598172	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1037827	60598172	20597038	1770	77945											
TANC2	26115	broad.mit.edu	37	chr17	61498206	61498206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaaccagcccagcccagcCgtccattcaagcaccgtcat	7	17	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:61498206C>T	uc002jal.3	+	25	4886	c.4863C>T	c.(4861-4863)GCC>GCT	p.A1621A	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Silent_p.A732A	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1621							binding			ovary(2)	2						CCAGCCCAGCCGTCCATTCAA	0.572													T	61498206	C	T	61498206	2	4	131	1	0	0	0	0	0	0	0	1	15542	639	23	1		1	TANC2	17	61498206	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	900034	61498206	19697004	1771	77946											
CCDC47	57003	broad.mit.edu	37	chr17	61824306	61824306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaacttcttttgctcacGcctcaatgcagcctcctaga	5	15	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:61824306G>A	uc002jbs.3	-	13	1723	c.1387C>T	c.(1387-1389)CGT>TGT	p.R463C	CCDC47_uc010ddx.2_Missense_Mutation_p.R463C	NM_020198	NP_064583	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47 precursor	463	Potential.					integral to membrane	protein binding				0						TTTTGCTCACGCCTCAATGCA	0.383													A	61824306	G	A	61824306	3	1	131	1	0	0	0	0	1	0	0	0	2818	1087	38	1	68	1	CCDC47	17	61824306	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	326100	61824306	19370904	1772	77947											
FTSJ3	117246	broad.mit.edu	37	chr17	61898289	61898289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttcggggtccagtatcCgatgtttcgctagagaggga	15	9	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:61898289C>T	uc002jbz.2	-	17	2060	c.1982G>A	c.(1981-1983)CGG>CAG	p.R661Q	FTSJ3_uc002jca.2_Missense_Mutation_p.R661Q	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	661					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						GTCCAGTATCCGATGTTTCGC	0.488													T	61898289	C	T	61898289	3	4	131	1	0	0	0	0	1	0	0	0	6089	652	23	1	577	1	FTSJ3	17	61898289	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	73983	61898289	19296921	1773	77948											
SMARCD2	6603	broad.mit.edu	37	chr17	61912912	61912912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtattggaaatgtagatccGaagctttcgcttttgctaaa	9	7	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:61912912G>A	uc010deb.1	-	5	900	c.583C>T	c.(583-585)CGG>TGG	p.R195W	SMARCD2_uc010wpt.1_Missense_Mutation_p.R147W|SMARCD2_uc010dea.1_Missense_Mutation_p.R120W|SMARCD2_uc010dec.1_Missense_Mutation_p.R174W	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	SWI/SNF-related matrix-associated	195					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0						ATGTAGATCCGAAGCTTTCGC	0.522													A	61912912	G	A	61912912	3	1	131	1	0	0	0	0	1	0	0	0	14778	1057	37	1	1048	1	SMARCD2	17	61912912	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	14623	61912912	19282298	1774	77949											
CSH1	1442	broad.mit.edu	37	chr17	61972557	61972557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgaggatctgcccagtcCggcggctgccgtcttccagc	13	15	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:61972557C>T	uc002jcs.1	-	5	595	c.479G>A	c.(478-480)CGG>CAG	p.R160Q	CSH2_uc002jck.2_Intron|CSH1_uc002jcp.1_Silent_p.P150P|CSH1_uc002jcq.1_Missense_Mutation_p.R121Q|CSH1_uc002jcr.1_3'UTR|CSH1_uc002jct.1_Missense_Mutation_p.R126Q|CSH1_uc002jcu.1_Silent_p.P244P|CSH1_uc002jcv.1_Missense_Mutation_p.R65Q|CSH1_uc002jcw.2_Silent_p.P159P|CSH1_uc002jcy.2_3'UTR	NM_001317	NP_001308	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 isoform 1	160					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			skin(1)	1						CTGCCCAGTCCGGCGGCTGCC	0.547									Russell-Silver_syndrome				T	61972557	C	T	61972557	3	4	131	1	0	0	0	0	1	0	0	0	3940	652	23	1	178	1	CSH1	17	61972557	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	59645	61972557	19222653	1775	77950											
LRRC37A3	374819	broad.mit.edu	37	chr17	62856650	62856651	+	Frame_Shift_Ins	INS	-	-	T													tggggctggacttccgagccINSttttttcttcggcagtgttc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:62856650_62856651insT	uc002jey.2	-	11	4144_4145	c.3613_3614insA	c.(3613-3615)AGGfs	p.R1205fs	LRRC37A3_uc010wqg.1_Frame_Shift_Ins_p.R323fs|LRRC37A3_uc002jex.1_Frame_Shift_Ins_p.R182fs|LRRC37A3_uc010wqf.1_Frame_Shift_Ins_p.R243fs|LRRC37A3_uc010dek.1_Frame_Shift_Ins_p.R211fs	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1205	Extracellular (Potential).					integral to membrane					0						ACTTCCGAGCCTTTTTTCTTCG	0.559													T	62856651	-	T	62856650	7	5	131	1	0	1	1	0	0	0	0	0	8993	681	24	0	1306	0	LRRC37A3	17	62856650	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	884093	62856650	18338560	1776	77951	381	2									
LRRC37A3	374819	broad.mit.edu	37	chr17	62856651	62856652	+	Frame_Shift_Ins	INS	-	-	T													ggggctggacttccgagcctINStttttcttcggcagtgttct							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:62856650_62856651C>CT	uc002jey.2	-	10	4229_4230	c.3613_3614G>AG	c.(3613-3615)aggfs	p.R1205fs	LRRC37A3_uc010wqg.1_Frame_Shift_Ins_p.R323fs|LRRC37A3_uc002jex.1_Frame_Shift_Ins_p.R182fs|LRRC37A3_uc010wqf.1_Frame_Shift_Ins_p.R243fs|LRRC37A3_uc010dek.1_Frame_Shift_Ins_p.R211fs|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1205						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACTTCCGAGCCTTTTTTCTTCG	0.559													T	62856652	-	T	62856651	7	5	131	1	0	1	1	0	0	0	0	0	8993	1608	56	0	1307	0	LRRC37A3	17	62856651	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	62856651	18338559	1777	77952	381	2									
AXIN2	8313	broad.mit.edu	37	chr17	63532585	63532585	+	Frame_Shift_Del	DEL	C	C	-													tgcgggggtgcccgctgttgCccccccacagatggtgccgg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:63532584_63532584GC>G	uc002jfi.3	-	7	2284	c.1995_1995GC>C	c.(1993-1995)ggcfs	p.G665fs	AXIN2_uc002jfh.3_Frame_Shift_Del_p.G600fs	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	665					Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCGCTGTTGCCCCCCCACA	0.657									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				-	63532585	C	-	63532585	7	5	131	1	0	1	0	1	0	0	0	0	1237	739	26	0	553	0	AXIN2	17	63532585	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	675934	63532585	17662625	1778	77953											
KPNA2	3838	broad.mit.edu	37	chr17	66040473	66040473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaggaagctgtgtgggccGtgaccaactataccagtggt	13	8	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:66040473G>A	uc002jgk.2	+	9	1333	c.1201G>A	c.(1201-1203)GTG>ATG	p.V401M	KPNA2_uc002jgl.2_Missense_Mutation_p.V401M	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	401	NLS binding site (minor) (By similarity).|ARM 8.				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			central_nervous_system(2)	2	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTGTGGGCCGTGACCAACTA	0.388													A	66040473	G	A	66040473	3	1	131	1	0	0	0	0	1	0	0	0	8430	1145	40	1	1231	1	KPNA2	17	66040473	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2507888	66040473	15154737	1779	77954											
FAM20A	54757	broad.mit.edu	37	chr17	66533689	66533689	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtcgactatgacactctGctgtccatgggccactatgc	10	14	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:66533689G>A	uc002jho.2	-	11	1843	c.1555C>T	c.(1555-1557)CAG>TAG	p.Q519*	FAM20A_uc010wqp.1_Nonsense_Mutation_p.Q381*|PRKAR1A_uc002jhm.2_Intron|FAM20A_uc002jhn.2_Nonsense_Mutation_p.Q230*	NM_017565	NP_060035	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	519						extracellular region					0	Breast(10;1.64e-13)					ATGACACTCTGCTGTCCATGG	0.567													A	66533689	G	A	66533689	4	1	131	1	0	0	0	0	0	1	0	0	5537	1328	46	2	74	2	FAM20A	17	66533689	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	493216	66533689	14661521	1780	77955											
KCNJ16	3773	broad.mit.edu	37	chr17	68128923	68128923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacagtgaagggaggatgaCgatggcatttaaagacctca	13	6	1	4	rs145663054	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:68128923C>T	uc002jin.2	+	5	1181	c.695C>T	c.(694-696)ACG>ATG	p.T232M	KCNJ16_uc002jio.2_Missense_Mutation_p.T232M|KCNJ16_uc002jip.2_Missense_Mutation_p.T232M|KCNJ16_uc002jiq.2_Missense_Mutation_p.T264M	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel J16	232	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Breast(10;2.96e-09)					GGGAGGATGACGATGGCATTT	0.478													T	68128923	C	T	68128923	3	4	131	1	0	0	0	0	1	0	0	0	8050	536	19	1	697	1	KCNJ16	17	68128923	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1595234	68128923	13066287	1781	77956											
KCNJ16	3773	broad.mit.edu	37	chr17	68129127	68129127	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaatctagaagctcctatgTtccccgagaaattctctggg	8	12	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:68129127T>A	uc002jin.2	+	5	1385	c.899T>A	c.(898-900)GTT>GAT	p.V300D	KCNJ16_uc002jio.2_Missense_Mutation_p.V300D|KCNJ16_uc002jip.2_Missense_Mutation_p.V300D|KCNJ16_uc002jiq.2_Missense_Mutation_p.V332D	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel J16	300	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Breast(10;2.96e-09)					AGCTCCTATGTTCCCCGAGAA	0.408													A	68129127	T	A	68129127	3	1	131	1	0	0	0	0	1	0	0	0	8050	1725	60	5	901	5	KCNJ16	17	68129127	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	204	68129127	13066083	1782	77957											
C17orf80	55028	broad.mit.edu	37	chr17	71233115	71233115	+	Frame_Shift_Del	DEL	G	G	-													ccacaacttatcagtccccaGggggaaagactctcacaagg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:71233115delG	uc002jjm.3	+	3	1688	c.1494delG	c.(1492-1494)CAGfs	p.Q498fs	C17orf80_uc010wqu.1_Frame_Shift_Del_p.Q498fs|C17orf80_uc010dfj.2_Frame_Shift_Del_p.Q498fs|C17orf80_uc002jjk.1_Frame_Shift_Del_p.Q498fs|C17orf80_uc002jjl.3_Frame_Shift_Del_p.Q498fs	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	lung cancer-related protein 8 isoform a	498	Extracellular (Potential).					integral to membrane				skin(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)			TCAGTCCCCAGGGGGAAAGAC	0.458													-	71233115	G	-	71233115	7	5	131	1	0	1	0	1	0	0	0	0	1885	991	35	0	1496	0	C17orf80	17	71233115	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	3103988	71233115	9962095	1783	77958											
RAB37	326624	broad.mit.edu	37	chr17	72739292	72739292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacaccgctgggcaggaaCggttccgaagcgtcacccat	14	13	1	0	rs148960641		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:72739292C>T	uc002jlk.2	+	4	327	c.271C>T	c.(271-273)CGG>TGG	p.R91W	RAB37_uc002jlc.2_Missense_Mutation_p.R84W|RAB37_uc010dfu.2_Missense_Mutation_p.R84W|RAB37_uc002jld.2_Missense_Mutation_p.R84W|RAB37_uc010wrb.1_Missense_Mutation_p.R59W|RAB37_uc010wrc.1_Missense_Mutation_p.R96W|RAB37_uc010wrd.1_Missense_Mutation_p.R59W|RAB37_uc010wre.1_Missense_Mutation_p.R54W|RAB37_uc002jll.3_RNA	NM_001006638	NP_001006639	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family isoform 2	91					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			ovary(1)	1						TGGGCAGGAACGGTTCCGAAG	0.597													T	72739292	C	T	72739292	3	4	131	1	0	0	0	0	1	0	0	0	12927	527	19	1	588	1	RAB37	17	72739292	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1506177	72739292	8455918	1784	77959											
GGA3	23163	broad.mit.edu	37	chr17	73239146	73239146	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccagggtgtcctttacctTggacttctcctcatcatcaa	7	14	4	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:73239146T>C	uc002jni.1	-	6	535	c.526A>G	c.(526-528)AAG>GAG	p.K176E	GGA3_uc002jnj.1_Missense_Mutation_p.K143E|GGA3_uc010wrw.1_Missense_Mutation_p.K54E|GGA3_uc002jnk.1_Missense_Mutation_p.K104E|GGA3_uc010wrx.1_Missense_Mutation_p.K54E|GGA3_uc010wry.1_Missense_Mutation_p.K104E|GGA3_uc010wrz.1_Intron	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	176	GAT.|Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TCCTTTACCTTGGACTTCTCC	0.552													C	73239146	T	C	73239146	3	2	131	1	0	0	0	0	1	0	0	0	6354	1821	63	3	1781	3	GGA3	17	73239146	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	499854	73239146	7956064	1785	77960											
GRB2	2885	broad.mit.edu	37	chr17	73316454	73316454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgcttcttgactcttagaCgttccggttcacgggggtga	12	9	3	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:73316454C>T	uc002jnx.3	-	6	1006	c.649G>A	c.(649-651)GTC>ATC	p.V217I	GRB2_uc002jny.3_Missense_Mutation_p.V176I	NM_002086	NP_002077	P62993	GRB2_HUMAN	growth factor receptor-bound protein 2 isoform	217					axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			ovary(3)	3	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	GACTCTTAGACGTTCCGGTTC	0.473													T	73316454	C	T	73316454	3	4	131	1	0	0	0	0	1	0	0	0	6758	536	19	1	8	1	GRB2	17	73316454	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	77308	73316454	7878756	1786	77961											
KIAA0195	9772	broad.mit.edu	37	chr17	73486331	73486331	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtgaatggcgtcctgcCcatcctccccctgctctttc	8	18	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:73486331C>A	uc002jnz.3	+	10	1246	c.971C>A	c.(970-972)CCC>CAC	p.P324H	KIAA0195_uc010wsa.1_Missense_Mutation_p.P334H|KIAA0195_uc010wsb.1_5'UTR	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	324	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCGTCCTGCCCATCCTCCCC	0.672													A	73486331	C	A	73486331	3	1	131	1	0	0	0	0	1	0	0	0	8160	623	22	5	1005	5	KIAA0195	17	73486331	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	169877	73486331	7708879	1787	77962											
GALR2	8811	broad.mit.edu	37	chr17	74071131	74071131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgcgcggcggccaggCggtcagcactaccaacctgt	14	15	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:74071131C>T	uc002jqm.1	+	1	248	c.167C>T	c.(166-168)GCG>GTG	p.A56V	SRP68_uc010wsu.1_5'Flank|SRP68_uc002jqk.1_5'Flank|SRP68_uc002jql.1_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	56	Cytoplasmic (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0						GGCGGCCAGGCGGTCAGCACT	0.657													T	74071131	C	T	74071131	3	4	131	1	0	0	0	0	1	0	0	0	6228	768	27	1	169	1	GALR2	17	74071131	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	584800	74071131	7124079	1788	77963											
GALR2	8811	broad.mit.edu	37	chr17	74072797	74072797	+	Frame_Shift_Del	DEL	G	G	-													ggcagccatcgggctcatctGggggctgtcgctgctcttct							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:74072797delG	uc002jqm.1	+	2	530	c.449delG	c.(448-450)TGGfs	p.W150fs	ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	150	Helical; Name=4; (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0						GGGCTCATCTGGGGGCTGTCG	0.692													-	74072797	G	-	74072797	7	5	131	1	0	1	0	1	0	0	0	0	6228	1357	47	0	455	0	GALR2	17	74072797	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	1666	74072797	7122413	1789	77964											
PRPSAP1	5635	broad.mit.edu	37	chr17	74328436	74328437	+	Frame_Shift_Ins	INS	-	-	C													gtaggggaagtaggggatgaINSccccaataatgttcctggca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:74328436_74328437insC	uc010wta.1	-	4	816_817	c.370_371insG	c.(370-372)GTCfs	p.V124fs	PRPSAP1_uc010wtb.1_Frame_Shift_Ins_p.V21fs	NM_002766	NP_002757	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate	95					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			ovary(1)	1						GTAGGGGATGACCCCAATAATG	0.495													C	74328437	-	C	74328436	7	5	131	1	0	1	1	0	0	0	0	0	12581	275	10	0	814	0	PRPSAP1	17	74328436	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	255639	74328436	6866774	1790	77965	382	2									
PRPSAP1	5635	broad.mit.edu	37	chr17	74328437	74328438	+	Frame_Shift_Ins	INS	-	-	C													taggggaagtaggggatgacINScccaataatgttcctggcac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:74328436_74328437A>AC	uc010wtb.1	-	3	282_283	c.61_62T>GT	c.(61-63)gtcfs	p.V21fs	PRPSAP1_uc010wta.1_Frame_Shift_Ins_p.V124fs	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.	95					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						GTAGGGGATGACCCCAATAATG	0.495													C	74328438	-	C	74328437	7	5	131	1	0	1	1	0	0	0	0	0	12581	507	18	0	815	0	PRPSAP1	17	74328437	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	74328437	6866773	1791	77966	382	2									
USP36	57602	broad.mit.edu	37	chr17	76799940	76799942	+	In_Frame_Del	DEL	GGA	GGA	-													tgaggcagcgccgtcgagatGgaggagcagctccgtggttc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:76799940_76799942delGGA	uc002jvz.1	-	16	2660_2662	c.2335_2337delTCC	c.(2335-2337)TCCdel	p.S779del	USP36_uc002jwa.1_In_Frame_Del_p.S779del|USP36_uc002jwb.1_In_Frame_Del_p.S391del|USP36_uc002jwc.1_In_Frame_Del_p.S479del|USP36_uc002jvy.1_5'Flank	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	779					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CCGTCGAGATGGAGGAGCAGCTC	0.64													-	76799942	GGA	-	76799940	7	5	131	1	0	1	0	1	0	0	0	0	17064	1335	47	0	1054	0	USP36	17	76799940	In_Frame_Del	DEL	GGA	TCGA-BR-A4QL-01A-31D-A25D-08	2471503	76799940	4395270	1792	77967											
TIMP2	7077	broad.mit.edu	37	chr17	76851906	76851906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccagaggcactcgtccGgggaggagatgtagcacggg	16	11	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:76851906G>A	uc002jwf.2	-	5	808	c.506C>T	c.(505-507)CCG>CTG	p.P169L	TIMP2_uc002jwe.2_Missense_Mutation_p.P92L|TIMP2_uc010wty.1_Missense_Mutation_p.P92L	NM_003255	NP_003246	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2 precursor	169							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			GCACTCGTCCGGGGAGGAGAT	0.637													A	76851906	G	A	76851906	3	1	131	1	0	0	0	0	1	0	0	0	15915	1116	39	1	160	1	TIMP2	17	76851906	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	51966	76851906	4343304	1793	77968											
ENPP7	339221	broad.mit.edu	37	chr17	77707394	77707394	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctaccacgccacgctgggCatccagaggtggtgggacaa	13	14	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:77707394C>T	uc002jxa.2	+	2	362	c.342C>T	c.(340-342)GGC>GGT	p.G114G		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	114					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCACGCTGGGCATCCAGAGGT	0.592													T	77707394	C	T	77707394	2	4	131	1	0	0	0	0	0	0	0	1	5135	697	25	2		2	ENPP7	17	77707394	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	855488	77707394	3487816	1794	77969											
ENPP7	339221	broad.mit.edu	37	chr17	77709291	77709291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggactacggaccaaaCgggatgctgctccctaaaga	10	13	0	1	rs149462169	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:77709291C>T	uc002jxa.2	+	3	869	c.849C>T	c.(847-849)AAC>AAT	p.N283N		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	283					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ACGGACCAAACGGGATGCTGC	0.587													T	77709291	C	T	77709291	2	4	131	1	0	0	0	0	0	0	0	1	5135	535	19	1		1	ENPP7	17	77709291	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1897	77709291	3485919	1795	77970											
TBC1D16	125058	broad.mit.edu	37	chr17	77922699	77922699	+	Frame_Shift_Del	DEL	C	C	-													ctccacattgggattgtcttCcccccggaagaactggttgt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:77922699delC	uc002jxj.2	-	8	1629	c.1513delG	c.(1513-1515)GAAfs	p.E505fs	TBC1D16_uc002jxh.2_Frame_Shift_Del_p.E143fs|TBC1D16_uc002jxi.2_Frame_Shift_Del_p.E130fs|TBC1D16_uc002jxk.1_Frame_Shift_Del_p.E143fs	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	505	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GGATTGTCTTCCCCCCGGAAG	0.572													-	77922699	C	-	77922699	7	5	131	1	0	1	0	1	0	0	0	0	15602	864	30	0	810	0	TBC1D16	17	77922699	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	213408	77922699	3272511	1796	77971											
GAA	2548	broad.mit.edu	37	chr17	78090851	78090851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaccccagtgctccaggcCgggaaggccgaagtgactgg	14	13	1	1	rs150431943	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:78090851C>T	uc002jxo.2	+	17	2456	c.2274C>T	c.(2272-2274)GCC>GCT	p.A758A	GAA_uc002jxp.2_Silent_p.A758A|GAA_uc002jxq.2_Silent_p.A758A	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	758					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	TGCTCCAGGCCGGGAAGGCCG	0.647													T	78090851	C	T	78090851	2	4	131	1	0	0	0	0	0	0	0	1	6147	639	23	1		1	GAA	17	78090851	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	168152	78090851	3104359	1797	77972											
SLC26A11	284129	broad.mit.edu	37	chr17	78195370	78195370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccgtagagatgccttcttCggtgacggcgctgggtcagg	15	11	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:78195370C>T	uc002jyb.1	+	3	280	c.11C>T	c.(10-12)TCG>TTG	p.S4L	SGSH_uc002jxz.3_5'Flank|SGSH_uc002jya.3_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.1_Missense_Mutation_p.S4L|SLC26A11_uc002jyd.1_Missense_Mutation_p.S4L|SLC26A11_uc010dhv.1_Missense_Mutation_p.S4L	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	solute carrier family 26, member 11	4	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity				0	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			ATGCCTTCTTCGGTGACGGCG	0.687													T	78195370	C	T	78195370	3	4	131	1	0	0	0	0	1	0	0	0	14516	893	31	1	13	1	SLC26A11	17	78195370	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	104519	78195370	2999840	1798	77973											
RNF213	57674	broad.mit.edu	37	chr17	78314019	78314019	+	Frame_Shift_Del	DEL	C	C	-													ccagcacaaggtcttcgtcaCcccccaggcacccctcgagg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:78314019delC	uc002jyh.1	+	1	294	c.71delC	c.(70-72)ACCfs	p.T24fs		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTCTTCGTCACCCCCCAGGCA	0.637													-	78314019	C	-	78314019	7	5	131	1	0	1	0	1	0	0	0	0	13477	507	18	0	6269	0	RNF213	17	78314019	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	118649	78314019	2881191	1799	77974											
AATK	9625	broad.mit.edu	37	chr17	79094123	79094123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaggctgcgcaggttgcGcgcgctctggctctcagcca	15	14	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:79094123G>A	uc010dia.2	-	11	3693	c.3613C>T	c.(3613-3615)CGC>TGC	p.R1205C	AATK_uc010dhz.2_RNA	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1205						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CGCAGGTTGCGCGCGCTCTGG	0.657													A	79094123	G	A	79094123	3	1	131	1	0	0	0	0	1	0	0	0	26	1087	38	1	527	1	AATK	17	79094123	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	780104	79094123	2101087	1800	77975											
AATK	9625	broad.mit.edu	37	chr17	79095729	79095729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgctgggcggccctccgCgctcccacctcctctagctc	10	22	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:79095729C>T	uc010dia.2	-	11	2087	c.2007G>A	c.(2005-2007)GCG>GCA	p.A669A	AATK_uc010dhz.2_RNA	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	669						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CGGCCCTCCGCGCTCCCACCT	0.706													T	79095729	C	T	79095729	2	4	131	1	0	0	0	0	0	0	0	1	26	755	27	1		1	AATK	17	79095729	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1606	79095729	2099481	1801	77976											
SLC38A10	124565	broad.mit.edu	37	chr17	79220706	79220706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcctgggtttatcctcctCgtcctcctgcctctgctggt	9	16	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:79220706C>T	uc002jzz.1	-	15	2596	c.2221G>A	c.(2221-2223)GAG>AAG	p.E741K	SLC38A10_uc002jzy.1_Missense_Mutation_p.E659K	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	741					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TTATCCTCCTCGTCCTCCTGC	0.652													T	79220706	C	T	79220706	3	4	131	1	0	0	0	0	1	0	0	0	14602	893	31	1	1146	1	SLC38A10	17	79220706	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	124977	79220706	1974504	1802	77977											
SLC38A10	124565	broad.mit.edu	37	chr17	79234119	79234119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcttcctctgccaagtcctCggggacctcctcgctcacag	10	17	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:79234119C>T	uc002jzz.1	-	11	1582	c.1207G>A	c.(1207-1209)GAG>AAG	p.E403K	SLC38A10_uc002jzy.1_Missense_Mutation_p.E321K|SLC38A10_uc002kab.2_Missense_Mutation_p.E403K	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	403					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCCAAGTCCTCGGGGACCTCC	0.662													T	79234119	C	T	79234119	3	4	131	1	0	0	0	0	1	0	0	0	14602	893	31	1	2454	1	SLC38A10	17	79234119	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	13413	79234119	1961091	1803	77978											
TSPAN10	83882	broad.mit.edu	37	chr17	79612444	79612445	+	Frame_Shift_Ins	INS	-	-	T													cctgttacgtggcttctctgINSggggcatccttgccttcctg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:79612444_79612445insT	uc010die.2	+	2	553_554	c.463_464insT	c.(463-465)GGGfs	p.G155fs	TSPAN10_uc002kaw.1_Frame_Shift_Ins_p.G155fs|TSPAN10_uc010did.1_RNA	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	tetraspanin 10	155						integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGGCTTCTCTGGGGGCATCCTT	0.688													T	79612445	-	T	79612444	7	5	131	1	0	1	1	0	0	0	0	0	16631	1348	47	0	469	0	TSPAN10	17	79612444	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	378325	79612444	1582766	1804	77979											
DCXR	51181	broad.mit.edu	37	chr17	79994510	79994510	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccccgggctattaagccccTggccacaatctggaatcgca	9	15	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:79994510T>C	uc002kdg.2	-	5	373	c.358A>G	c.(358-360)AGG>GGG	p.R120G		NM_016286	NP_057370	Q7Z4W1	DCXR_HUMAN	dicarbonyl/L-xylulose reductase	120					D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process	membrane	binding|L-xylulose reductase (NADP+) activity				0	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			ATTAAGCCCCTGGCCACAATC	0.612													C	79994510	T	C	79994510	3	2	131	1	0	0	0	0	1	0	0	0	4319	1579	55	3	392	3	DCXR	17	79994510	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	382066	79994510	1200700	1805	77980											
DUS1L	64118	broad.mit.edu	37	chr17	80018606	80018606	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtagggctggcagatccaGtggaagggcaagtcgccggt	17	8	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:80018606G>A	uc002kdq.2	-	9	1412	c.993C>T	c.(991-993)CAC>CAT	p.H331H	DUS1L_uc002kdp.2_Silent_p.H200H|DUS1L_uc002kdr.2_Silent_p.H331H|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	PP3111 protein	331					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			skin(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GGCAGATCCAGTGGAAGGGCA	0.677													A	80018606	G	A	80018606	2	1	131	1	0	0	0	0	0	0	0	1	4805	1020	36	4		4	DUS1L	17	80018606	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	24096	80018606	1176604	1806	77981											
FASN	2194	broad.mit.edu	37	chr17	80041487	80041487	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcctgcagcttctcttcCgccaaggagttcaagaccag	10	14	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:80041487C>T	uc002kdu.2	-	31	5364	c.5247G>A	c.(5245-5247)GCG>GCA	p.A1749A	FASN_uc002kdv.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	1749	Enoyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GCTTCTCTTCCGCCAAGGAGT	0.612													T	80041487	C	T	80041487	2	4	131	1	0	0	0	0	0	0	0	1	5683	639	23	1		1	FASN	17	80041487	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	22881	80041487	1153723	1807	77982											
FASN	2194	broad.mit.edu	37	chr17	80049207	80049207	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaagggcatggcggtggcGgggacagccgcgatgtcgtt	20	9	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr17:80049207G>A	uc002kdu.2	-	9	1500	c.1383C>T	c.(1381-1383)CCC>CCT	p.P461P	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	461	Acyl and malonyl transferases (By similarity).			AVPA -> LSPT (in Ref. 2; AAA73576).	energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TGGCGGTGGCGGGGACAGCCG	0.697													A	80049207	G	A	80049207	2	1	131	1	0	0	0	0	0	0	0	1	5683	1103	39	1		1	FASN	17	80049207	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	7720	80049207	1146003	1808	77983											
ADCYAP1	116	broad.mit.edu	37	chr18	909505	909505	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cgctctccaagcgccactcgGacgggatcttcacggacagc	11	16	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:909505G>C	uc010dkg.2	+	5	519	c.400G>C	c.(400-402)GAC>CAC	p.D134H	ADCYAP1_uc010dkh.2_Missense_Mutation_p.D134H	NM_001099733	NP_001093203	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide	134					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding				0						GCGCCACTCGGACGGGATCTT	0.627													C	909505	G	C	909505	3	2	131	1	0	0	0	0	1	0	0	0	302	1174	41	5	414	5	ADCYAP1	18	909505	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08		909505	77167743	1809	77984											
TMEM200C	645369	broad.mit.edu	37	chr18	5891840	5891840	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccggtggccttgggccAgtagcccaccaccgccatgg	14	16	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:5891840A>G	uc002kmx.1	-	1	264	c.223T>C	c.(223-225)TGG>CGG	p.W75R		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	transmembrane protein 200C	75						integral to membrane					0						GCCTTGGGCCAGTAGCCCACC	0.662													G	5891840	A	G	5891840	3	3	131	1	0	0	0	0	1	0	0	0	16122	188	7	3	1646	3	TMEM200C	18	5891840	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	4982335	5891840	72185408	1810	77985											
LAMA1	284217	broad.mit.edu	37	chr18	6950849	6950849	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcctttgccaaggtcaaAcatgaagtggaggcggcccc	12	12	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:6950849A>C	uc002knm.2	-	58	8423	c.8329T>G	c.(8329-8331)TTT>GTT	p.F2777V	LAMA1_uc002knk.2_Missense_Mutation_p.F107V|LAMA1_uc002knl.2_Missense_Mutation_p.F230V|LAMA1_uc010wzj.1_Missense_Mutation_p.F2253V	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2777	Laminin G-like 4.				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)	CCAAGGTCAAACATGAAGTGG	0.577													C	6950849	A	C	6950849	3	2	131	1	0	0	0	0	1	0	0	0	8605	43	2	5	922	5	LAMA1	18	6950849	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1059009	6950849	71126399	1811	77986											
LAMA1	284217	broad.mit.edu	37	chr18	6958539	6958539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcattgtgagcagtgacGtcccctctccctctggaatt	8	13	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:6958539G>A	uc002knm.2	-	55	7995	c.7901C>T	c.(7900-7902)ACG>ATG	p.T2634M	LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Missense_Mutation_p.T87M|LAMA1_uc010wzj.1_Missense_Mutation_p.T2110M	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2634	Laminin G-like 3.				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)	GAGCAGTGACGTCCCCTCTCC	0.458													A	6958539	G	A	6958539	3	1	131	1	0	0	0	0	1	0	0	0	8605	1145	40	1	1362	1	LAMA1	18	6958539	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	7690	6958539	71118709	1812	77987											
ANKRD12	23253	broad.mit.edu	37	chr18	9254358	9254358	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgatgagtatgagttcaaaGatgatgatgatgaagaaatt	11	1	1	9			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:9254358G>T	uc002knv.2	+	9	1350	c.1093G>T	c.(1093-1095)GAT>TAT	p.D365Y	ANKRD12_uc002knw.2_Missense_Mutation_p.D342Y|ANKRD12_uc002knx.2_Missense_Mutation_p.D342Y|ANKRD12_uc010dkx.1_Missense_Mutation_p.D72Y	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	365						nucleus				ovary(2)|central_nervous_system(1)	3						TGAGTTCAAAGATGATGATGA	0.348													T	9254358	G	T	9254358	3	4	131	1	0	0	0	0	1	0	0	0	640	942	33	5	1123	5	ANKRD12	18	9254358	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2295819	9254358	68822890	1813	77988											
TUBB6	84617	broad.mit.edu	37	chr18	12325616	12325616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgcgccgctcaccagccgCggcagccagcagtaccgggc	13	18	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:12325616C>T	uc002kqw.2	+	4	873	c.828C>T	c.(826-828)CGC>CGT	p.R276R	TUBB6_uc002kqv.2_Silent_p.R204R|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Silent_p.R239R|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	276					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)		TCACCAGCCGCGGCAGCCAGC	0.682													T	12325616	C	T	12325616	2	4	131	1	0	0	0	0	0	0	0	1	16757	755	27	1		1	TUBB6	18	12325616	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3071258	12325616	65751632	1814	77989											
SPIRE1	56907	broad.mit.edu	37	chr18	12453139	12453140	+	Splice_Site	INS	-	-	A													tcggcaacaaaagcagagctINSaaaaaatacaaatttaagag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:12453139_12453140insA	uc002kre.2	-	14	1824	c.1777_splice	c.e14-1	p.L593_splice	SPIRE1_uc002krc.2_Splice_Site|SPIRE1_uc010wzw.1_Splice_Site_p.L459_splice|SPIRE1_uc010wzx.1_Splice_Site_p.L382_splice|SPIRE1_uc010wzy.1_Splice_Site_p.L579_splice	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	spire homolog 1 isoform a							cytoskeleton|perinuclear region of cytoplasm	actin binding				0						AAAGCAGAGCTAAAAAATACAA	0.342													A	12453140	-	A	12453139	8	5	131	1	0	1	1	0	0	0	1	0	15070	1536	53	0	511	0	SPIRE1	18	12453139	Splice_Site	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	127523	12453139	65624109	1815	77990	383	2									
SPIRE1	56907	broad.mit.edu	37	chr18	12453140	12453141	+	Splice_Site	INS	-	-	A													cggcaacaaaagcagagctaINSaaaaatacaaatttaagagg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:12453139_12453140T>TA	uc002kre.3	-	14	1824	c.1777_splice	c.e14-1	p.L593_splice	SPIRE1_uc002krc.3_Splice_Site|SPIRE1_uc010wzw.2_Splice_Site_p.L459_splice|SPIRE1_uc010wzx.2_Splice_Site_p.L382_splice|SPIRE1_uc010wzy.2_Splice_Site_p.L579_splice	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	Homo sapiens spire homolog 1 (Drosophila) (SPIRE1), transcript variant 1, mRNA.	593						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						AAAGCAGAGCTAAAAAATACAA	0.342													A	12453141	-	A	12453140	8	5	131	1	0	1	1	0	0	0	1	0	15070	377	13	0		0	SPIRE1	18	12453140	Splice_Site	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	12453140	65624108	1816	77991	383	2									
RIOK3	8780	broad.mit.edu	37	chr18	21057190	21057190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagaacctacccaccctcaCggcctggagttcttgttccg	9	15	2	1	rs56187215		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:21057190C>T	uc002kui.3	+	11	1919	c.1302C>T	c.(1300-1302)CAC>CAT	p.H434H	RIOK3_uc010dls.2_Silent_p.H434H|RIOK3_uc010xas.1_Silent_p.H418H|RIOK3_uc010xat.1_Silent_p.H178H	NM_003831	NP_003822	O14730	RIOK3_HUMAN	sudD suppressor of bimD6 homolog	434	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCCACCCTCACGGCCTGGAGT	0.413													T	21057190	C	T	21057190	2	4	131	1	0	0	0	0	0	0	0	1	13379	535	19	1		1	RIOK3	18	21057190	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	8604050	21057190	57020058	1817	77992											
ZNF521	25925	broad.mit.edu	37	chr18	22807137	22807137	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagccttcctcacactgacTgcacttctgagtgtccttca	6	14	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:22807137T>C	uc002kvk.2	-	4	992	c.745A>G	c.(745-747)AGT>GGT	p.S249G	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.S249G|ZNF521_uc002kvl.2_Missense_Mutation_p.S29G	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	249	C2H2-type 6.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCACACTGACTGCACTTCTGA	0.547			T	PAX5	ALL								C	22807137	T	C	22807137	3	2	131	1	0	0	0	0	1	0	0	0	17962	1580	55	3	3210	3	ZNF521	18	22807137	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1749947	22807137	55270111	1818	77993											
KCTD1	284252	broad.mit.edu	37	chr18	24039669	24039669	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagcctgcattgacagagTtacacatcacgtcgccgatc	8	14	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:24039669T>C	uc002kvw.2	-	4	1090	c.530A>G	c.(529-531)AAC>AGC	p.N177S	KCTD1_uc010xbj.1_Missense_Mutation_p.N785S|KCTD1_uc010xbk.1_Missense_Mutation_p.N177S|KCTD1_uc002kvy.2_Missense_Mutation_p.N95S	NM_001136205	NP_001129677	Q719H9	KCTD1_HUMAN	potassium channel tetramerisation domain	177					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			ovary(1)	1	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			ATTGACAGAGTTACACATCAC	0.502													C	24039669	T	C	24039669	3	2	131	1	0	0	0	0	1	0	0	0	8096	1725	60	3	251	3	KCTD1	18	24039669	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1232532	24039669	54037579	1819	77994											
C18orf34	374864	broad.mit.edu	37	chr18	30926269	30926270	+	Frame_Shift_Ins	INS	-	-	A													ttcttgatctctgttgttttINSaaagcttcttcagcgtctgc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:30926269_30926270insA	uc002kxn.2	-	8	705_706	c.563_564insT	c.(562-564)TTAfs	p.L188fs	C18orf34_uc010xbr.1_Frame_Shift_Ins_p.L188fs|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Frame_Shift_Ins_p.L188fs|C18orf34_uc002kxp.2_Frame_Shift_Ins_p.L188fs	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	188	Potential.									ovary(1)	1						TCTGTTGTTTTAAAGCTTCTTC	0.401													A	30926270	-	A	30926269	7	5	131	1	0	1	1	0	0	0	0	0	1902	1751	61	0	2099	0	C18orf34	18	30926269	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	6886600	30926269	47150979	1820	77995	384	2									
C18orf34	374864	broad.mit.edu	37	chr18	30926270	30926271	+	Frame_Shift_Ins	INS	-	-	A													tcttgatctctgttgttttaINSaagcttcttcagcgtctgcc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:30926269_30926270T>TA	uc010xbr.1	-	7	705_706	c.563_564A>TA	c.(562-564)ttafs	p.L188fs	C18orf34_uc002kxn.2_Frame_Shift_Ins_p.L188fs|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Frame_Shift_Ins_p.L188fs|C18orf34_uc002kxp.3_Frame_Shift_Ins_p.L188fs	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	188										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						TCTGTTGTTTTAAAGCTTCTTC	0.401													A	30926271	-	A	30926270	7	5	131	1	0	1	1	0	0	0	0	0	1902	372	13	0	2100	0	C18orf34	18	30926270	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	30926270	47150978	1821	77996	384	2									
FHOD3	80206	broad.mit.edu	37	chr18	34310626	34310626	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaactgctgcagatggAaaaaggcaagagatcattgt	11	5	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:34310626A>G	uc002kzt.1	+	16	2956	c.2859A>G	c.(2857-2859)GGA>GGG	p.G953G	FHOD3_uc002kzs.1_Silent_p.G970G|FHOD3_uc010dmz.1_Silent_p.G685G|FHOD3_uc010dnb.1_5'UTR	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	953	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CTGCAGATGGAAAAAGGCAAG	0.413													G	34310626	A	G	34310626	2	3	131	1	0	0	0	0	0	0	0	1	5883	233	9	3		3	FHOD3	18	34310626	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	3384356	34310626	43766622	1822	77997											
SYT4	6860	broad.mit.edu	37	chr18	40851770	40851770	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggactgatagcagagagagaTcagtaactcaccccgtcctg	11	11	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:40851770T>A	uc002law.2	-	3	1246	c.877A>T	c.(877-879)ATC>TTC	p.I293F	SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Missense_Mutation_p.I275F|SYT4_uc010dnh.2_Intron	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	293	Phospholipid binding (Probable).|C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(5)	5						CAGAGAGAGATCAGTAACTCA	0.383													A	40851770	T	A	40851770	3	1	131	1	0	0	0	0	1	0	0	0	15473	1435	50	5	408	5	SYT4	18	40851770	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	6541144	40851770	37225478	1823	77998											
SETBP1	26040	broad.mit.edu	37	chr18	42281385	42281385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctgccggtctcctcagCcaagcccccagctgctcctg	8	20	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:42281385C>T	uc010dni.2	+	2	370	c.74C>T	c.(73-75)GCC>GTC	p.A25V	SETBP1_uc002lay.2_Missense_Mutation_p.A25V	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	25						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GTCTCCTCAGCCAAGCCCCCA	0.617									Schinzel-Giedion_syndrome				T	42281385	C	T	42281385	3	4	131	1	0	0	0	0	1	0	0	0	14129	739	26	2	76	2	SETBP1	18	42281385	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1429615	42281385	35795863	1824	77999											
SETBP1	26040	broad.mit.edu	37	chr18	42281469	42281469	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggatcccggtgggcggagAgcgcatggagccagaggagg	22	8	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:42281469A>G	uc010dni.2	+	2	454	c.158A>G	c.(157-159)GAG>GGG	p.E53G	SETBP1_uc002lay.2_Missense_Mutation_p.E53G	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	53						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GTGGGCGGAGAGCGCATGGAG	0.622									Schinzel-Giedion_syndrome				G	42281469	A	G	42281469	3	3	131	1	0	0	0	0	1	0	0	0	14129	304	11	3	160	3	SETBP1	18	42281469	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	84	42281469	35795779	1825	78000											
SETBP1	26040	broad.mit.edu	37	chr18	42531549	42531549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaaacagccatcaagcaCcccaggcctgtttctagcca	6	17	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:42531549C>T	uc010dni.2	+	4	2540	c.2244C>T	c.(2242-2244)CAC>CAT	p.H748H		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	748						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCATCAAGCACCCCAGGCCTG	0.562									Schinzel-Giedion_syndrome				T	42531549	C	T	42531549	2	4	131	1	0	0	0	0	0	0	0	1	14129	506	18	4		4	SETBP1	18	42531549	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	250080	42531549	35545699	1826	78001											
SETBP1	26040	broad.mit.edu	37	chr18	42531687	42531687	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaacctgagccctgccagCactgaaaccaatttttcaga	8	13	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:42531687C>T	uc010dni.2	+	4	2678	c.2382C>T	c.(2380-2382)AGC>AGT	p.S794S		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	794						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCCCTGCCAGCACTGAAACCA	0.488									Schinzel-Giedion_syndrome				T	42531687	C	T	42531687	2	4	131	1	0	0	0	0	0	0	0	1	14129	709	25	2		2	SETBP1	18	42531687	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	138	42531687	35545561	1827	78002											
SMAD2	4087	broad.mit.edu	37	chr18	45395688	45395688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagattaaaagcatattcgCagttttcaattgccttgagt	7	6	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:45395688C>T	uc002lcy.2	-	4	694	c.446G>A	c.(445-447)TGC>TAC	p.C149Y	SMAD2_uc002lcz.2_Missense_Mutation_p.C149Y|SMAD2_uc010xdc.1_Missense_Mutation_p.C119Y|SMAD2_uc010xdd.1_Missense_Mutation_p.C119Y	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Sma- and Mad-related protein 2 isoform 1	149	MH1.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			large_intestine(3)|lung(1)|central_nervous_system(1)	5						AGCATATTCGCAGTTTTCAAT	0.388													T	45395688	C	T	45395688	3	4	131	1	0	0	0	0	1	0	0	0	14758	710	25	2	989	2	SMAD2	18	45395688	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2864001	45395688	32681560	1828	78003											
ZBTB7C	201501	broad.mit.edu	37	chr18	45567085	45567085	+	Frame_Shift_Del	DEL	C	C	-													gtcatcctcctcccccccgtCccccccaggctccatgatct					rs115080210	by1000genomes	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:45567085delC	uc002lda.2	-	1	410	c.394delG	c.(394-396)GACfs	p.D132fs	ZBTB7C_uc002ldb.2_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dnu.2_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dnv.2_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010dnw.2_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dnx.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dny.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dnz.1_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010dob.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doc.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dod.1_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010doe.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dof.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dog.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doh.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010doi.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doj.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dok.1_Frame_Shift_Del_p.D181fs|ZBTB7C_uc010dol.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010doa.1_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010don.1_Frame_Shift_Del_p.D140fs|ZBTB7C_uc010doo.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dop.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doq.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dor.1_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010dos.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dot.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dou.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dom.1_Frame_Shift_Del_p.D141fs	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	132	Glu-rich.|Asp-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						tcccccccgtcccccCCAGGC	0.289													-	45567085	C	-	45567085	7	5	131	1	0	1	0	1	0	0	0	0	17552	855	30	0	1473	0	ZBTB7C	18	45567085	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	171397	45567085	32510163	1829	78004											
ACAA2	10449	broad.mit.edu	37	chr18	47322226	47322226	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggttcctccacataaaacaActtcagcttctttaacacaa	3	13	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:47322226A>G	uc002ldw.3	-	4	735	c.338T>C	c.(337-339)GTT>GCT	p.V113A	ACAA2_uc002ldx.3_Missense_Mutation_p.V110A	NM_006111	NP_006102	P42765	THIM_HUMAN	acetyl-coenzyme A acyltransferase 2	113					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1						ACATAAAACAACTTCAGCTTC	0.368													G	47322226	A	G	47322226	3	3	131	1	0	0	0	0	1	0	0	0	105	43	2	3	883	3	ACAA2	18	47322226	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1755141	47322226	30755022	1830	78005											
MAPK4	5596	broad.mit.edu	37	chr18	48256134	48256134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcccgaggacctgccggaCaataaactgggcgacctcaa	11	13	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:48256134C>T	uc002lev.2	+	6	2674	c.1674C>T	c.(1672-1674)GAC>GAT	p.D558D	MAPK4_uc010xdm.1_Silent_p.D347D|MAPK4_uc010doz.2_3'UTR	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	558					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)		ACCTGCCGGACAATAAACTGG	0.617													T	48256134	C	T	48256134	2	4	131	1	0	0	0	0	0	0	0	1	9280	477	17	4		4	MAPK4	18	48256134	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	933908	48256134	29821114	1831	78006											
DCC	1630	broad.mit.edu	37	chr18	50936875	50936875	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcccaattgatgactggattAtggaaacaatcagtggtgat	10	6	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:50936875A>T	uc002lfe.1	+	20	3576	c.2989A>T	c.(2989-2991)ATG>TTG	p.M997L	DCC_uc010xdr.1_Missense_Mutation_p.M825L|DCC_uc010dpf.1_Missense_Mutation_p.M632L	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	997	Extracellular (Potential).|Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGACTGGATTATGGAAACAAT	0.363													T	50936875	A	T	50936875	3	4	131	1	0	0	0	0	1	0	0	0	4282	449	16	5	3067	5	DCC	18	50936875	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	2680741	50936875	27140373	1832	78007											
CDH20	28316	broad.mit.edu	37	chr18	59221697	59221697	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagcactgtccacagctaCgtgctggccaagctctacga	9	14	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:59221697C>T	uc010dps.1	+	11	2187	c.2175C>T	c.(2173-2175)TAC>TAT	p.Y725Y	CDH20_uc002lif.2_Silent_p.Y719Y	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	725	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				TCCACAGCTACGTGCTGGCCA	0.657													T	59221697	C	T	59221697	2	4	131	1	0	0	0	0	0	0	0	1	3106	547	19	1		1	CDH20	18	59221697	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	8284822	59221697	18855551	1833	78008											
KIAA1468	57614	broad.mit.edu	37	chr18	59855209	59855209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtccctggagcagccggCgttgggggcgctggaggtcg	22	10	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:59855209C>T	uc002lil.2	+	1	686	c.471C>T	c.(469-471)GGC>GGT	p.G157G	PIGN_uc002lii.3_5'Flank|PIGN_uc002lij.3_5'Flank|KIAA1468_uc002lik.1_Silent_p.G157G|KIAA1468_uc010xel.1_Silent_p.G157G	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	157							binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				GAGCAGCCGGCGTTGGGGGCG	0.662											OREG0025032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	59855209	C	T	59855209	2	4	131	1	0	0	0	0	0	0	0	1	8236	755	27	1		1	KIAA1468	18	59855209	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	633512	59855209	18222039	1834	78009											
SERPINB5	5268	broad.mit.edu	37	chr18	61156698	61156698	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattaaggatctcacagatgGcaagtaccctttaattgttc	7	8	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:61156698G>A	uc002liz.3	+	4	566	c.424_splice	c.e4+1	p.G142_splice	SERPINB5_uc002liy.2_Splice_Site_p.G142_splice	NM_002639	NP_002630	P36952	SPB5_HUMAN	serine (or cysteine) proteinase inhibitor, clade						cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)	1						CTCACAGATGGCAAGTACCCT	0.378													A	61156698	G	A	61156698	5	1	131	1	0	0	0	0	0	0	1	0	14104	1217	42	2	435	2	SERPINB5	18	61156698	Splice_Site	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1301489	61156698	16920550	1835	78010											
SERPINB7	8710	broad.mit.edu	37	chr18	61463517	61463517	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggactacattgagtgtgcCgaaaaattatacgatgccaa	9	7	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:61463517C>T	uc002ljl.2	+	5	450	c.354C>T	c.(352-354)GCC>GCT	p.A118A	SERPINB7_uc002ljm.2_Silent_p.A118A|SERPINB7_uc010xet.1_Silent_p.A101A|SERPINB7_uc010dqg.2_Silent_p.A118A	NM_001040147	NP_001035237	O75635	SPB7_HUMAN	serine (or cysteine) proteinase inhibitor, clade	118					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			lung(2)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)				TTGAGTGTGCCGAAAAATTAT	0.308													T	61463517	C	T	61463517	2	4	131	1	0	0	0	0	0	0	0	1	14106	639	23	1		1	SERPINB7	18	61463517	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	306819	61463517	16613731	1836	78011											
SERPINB2	5055	broad.mit.edu	37	chr18	61570186	61570186	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagtggaccagcaaagacAaaatggctgaagatgaagtt	11	6	0	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:61570186A>G	uc010xeu.1	+	9	1228	c.895A>G	c.(895-897)AAA>GAA	p.K299E	SERPINB2_uc002ljo.2_Missense_Mutation_p.K299E|SERPINB2_uc010dqh.2_Missense_Mutation_p.K229E|SERPINB2_uc002ljp.1_Missense_Mutation_p.K104E|SERPINB2_uc002ljq.1_Missense_Mutation_p.K104E	NM_001143818	NP_001137290	P05120	PAI2_HUMAN	serine (or cysteine) proteinase inhibitor, clade	299					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			lung(1)|skin(1)	2		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CAGCAAAGACAAAATGGCTGA	0.348													G	61570186	A	G	61570186	3	3	131	1	0	0	0	0	1	0	0	0	14101	131	5	3	921	3	SERPINB2	18	61570186	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	106669	61570186	16507062	1837	78012											
CDH7	1005	broad.mit.edu	37	chr18	63526952	63526953	+	Frame_Shift_Ins	INS	-	-	A													tcttttcctaggttatccagINSaaaatcagtgctgtggataa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:63526952_63526953insA	uc002ljz.2	+	10	1828_1829	c.1503_1504insA	c.(1501-1506)CAGAAAfs	p.Q501fs	CDH7_uc002lka.2_Frame_Shift_Ins_p.Q501fs|CDH7_uc002lkb.2_Frame_Shift_Ins_p.Q501fs	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	501_502	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				AGGTTATCCAGAAAATCAGTGC	0.361													A	63526953	-	A	63526952	7	5	131	1	0	1	1	0	0	0	0	0	3115	933	33	0	1537	0	CDH7	18	63526952	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1956766	63526952	14550296	1838	78013	385	2									
CDH7	1005	broad.mit.edu	37	chr18	63526953	63526954	+	Frame_Shift_Ins	INS	-	-	A													cttttcctaggttatccagaINSaaatcagtgctgtggataaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:63526952_63526953G>GA	uc002lkb.3	+	9	1929_1930	c.1503_1504G>GA	c.(1501-1506)cagaaafs	p.Q501fs	CDH7_uc002ljz.3_Frame_Shift_Ins_p.Q501fs|CDH7_uc002lka.3_Frame_Shift_Ins_p.Q501fs	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	501	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGGTTATCCAGAAAATCAGTGC	0.361													A	63526954	-	A	63526953	7	5	131	1	0	1	1	0	0	0	0	0	3115	247	9	0	1538	0	CDH7	18	63526953	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	63526953	14550295	1839	78014	385	2									
DOK6	220164	broad.mit.edu	37	chr18	67365809	67365809	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacggtcgggactcaacgtgGttcacgtttgagtcaggaag	14	8	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:67365809G>A	uc002lkl.2	+	5	769	c.579G>A	c.(577-579)TGG>TGA	p.W193*		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	docking protein 6	193	IRS-type PTB.						insulin receptor binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				ACTCAACGTGGTTCACGTTTG	0.473													A	67365809	G	A	67365809	4	1	131	1	0	0	0	0	0	1	0	0	4701	1270	44	4	597	4	DOK6	18	67365809	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	3838856	67365809	10711439	1840	78015											
RTTN	25914	broad.mit.edu	37	chr18	67788837	67788837	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtttagaagttctagtgaAgaattttttctttgttcctt	7	5	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:67788837A>C	uc002lkp.2	-	26	3551	c.3483T>G	c.(3481-3483)TCT>TCG	p.S1161S	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.S249S	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1161							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				GTTCTAGTGAAGAATTTTTTC	0.299													C	67788837	A	C	67788837	2	2	131	1	0	0	0	0	0	0	0	1	13737	59	3	5		5	RTTN	18	67788837	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	423028	67788837	10288411	1841	78016											
RTTN	25914	broad.mit.edu	37	chr18	67869206	67869207	+	Frame_Shift_Ins	INS	-	-	T													atcctgttaagatttcagggINSttttttgacaattctgaaaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:67869206_67869207insT	uc002lkp.2	-	4	478_479	c.410_411insA	c.(409-411)AACfs	p.N137fs	RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Frame_Shift_Ins_p.N137fs	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	137							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				AGATTTCAGGGTTTTTTGACAA	0.356													T	67869207	-	T	67869206	7	5	131	1	0	1	1	0	0	0	0	0	13737	1252	44	0	6453	0	RTTN	18	67869206	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	80369	67869206	10208042	1842	78017	386	2									
RTTN	25914	broad.mit.edu	37	chr18	67869207	67869208	+	Frame_Shift_Ins	INS	-	-	T													tcctgttaagatttcagggtINStttttgacaattctgaaaag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:67869206_67869207G>GT	uc002lkp.2	-	3	478_479	c.410_411C>AC	c.(409-411)aacfs	p.N137fs	RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Frame_Shift_Ins_p.N137fs	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	137							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGATTTCAGGGTTTTTTGACAA	0.356													T	67869208	-	T	67869207	7	5	131	1	0	1	1	0	0	0	0	0	13737	1725	60	0	6454	0	RTTN	18	67869207	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	67869207	10208041	1843	78018	386	2									
CBLN2	147381	broad.mit.edu	37	chr18	70209264	70209264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgcacggggcagcaggcGggcagtagcagcaacagcag	17	13	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:70209264G>A	uc002lku.2	-	2	367	c.132C>T	c.(130-132)CCC>CCT	p.P44P	CBLN2_uc002lkv.2_Silent_p.P44P	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	44	Helical; (Potential).					integral to membrane					0		Esophageal squamous(42;0.131)				GGCAGCAGGCGGGCAGTAGCA	0.582													A	70209264	G	A	70209264	2	1	131	1	0	0	0	0	0	0	0	1	2705	1103	39	1		1	CBLN2	18	70209264	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2340057	70209264	7867984	1844	78019											
KCNG2	26251	broad.mit.edu	37	chr18	77624158	77624158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcggccggcggcgcctgcGcgacgtggtggacaacccgc	18	16	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:77624158G>A	uc010xfl.1	+	1	491	c.491G>A	c.(490-492)CGC>CAC	p.R164H		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	164	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		cggcgccTGCGCGACGTGGTG	0.368													A	77624158	G	A	77624158	3	1	131	1	0	0	0	0	1	0	0	0	8028	1087	38	1	493	1	KCNG2	18	77624158	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	7414894	77624158	453090	1845	78020											
PQLC1	80148	broad.mit.edu	37	chr18	77679291	77679291	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtctccacaaacagggcGgagtcaatggacaggtaggt	15	8	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:77679291G>A	uc002lnl.2	-	5	673	c.501C>T	c.(499-501)TCC>TCT	p.S167S	PQLC1_uc010dre.2_Silent_p.S84S|PQLC1_uc002lnk.2_Silent_p.S149S|PQLC1_uc010xfm.1_Intron	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1 isoform 1	167						integral to membrane				large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		CAAACAGGGCGGAGTCAATGG	0.637													A	77679291	G	A	77679291	2	1	131	1	0	0	0	0	0	0	0	1	12418	1103	39	1		1	PQLC1	18	77679291	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	55133	77679291	397957	1846	78021											
C18orf22	79863	broad.mit.edu	37	chr18	77798609	77798609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgcagagaagtgccgcGcacatgaggtgatgaccttt	13	10	0	4	rs143262320	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr18:77798609G>A	uc002lns.2	+	4	621	c.483G>A	c.(481-483)GCG>GCA	p.A161A	C18orf22_uc010drh.2_Silent_p.A161A|C18orf22_uc010dri.1_Intron|C18orf22_uc002lnt.2_5'Flank	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	hypothetical protein LOC79863 precursor	161					rRNA processing	mitochondrion					0		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)		GAAGTGCCGCGCACATGAGGT	0.498													A	77798609	G	A	77798609	2	1	131	1	0	0	0	0	0	0	0	1	1898	1074	38	1		1	C18orf22	18	77798609	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	119318	77798609	278639	1847	78022											
HCN2	610	broad.mit.edu	37	chr19	608110	608110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtgggtgccacctgctaCgccatgttcatcggccacgc	11	14	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:608110C>T	uc002lpe.2	+	4	1418	c.1365C>T	c.(1363-1365)TAC>TAT	p.Y455Y		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic	455	Helical; Name=Segment S6; (Potential).				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCTGCTACGCCATGTTCA	0.662													T	608110	C	T	608110	2	4	131	1	0	0	0	0	0	0	0	1	6997	547	19	1		1	HCN2	19	608110	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08		608110	58520873	1848	78023											
MED16	10025	broad.mit.edu	37	chr19	871999	871999	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatccgaggtggccgtataCacgggcaggcagctgggctt	16	10	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:871999C>T	uc002lqd.1	-	12	2176	c.2025G>A	c.(2023-2025)GTG>GTA	p.V675V	MED16_uc010drw.1_Intron|MED16_uc002lqe.2_Silent_p.V664V|MED16_uc002lqf.2_Silent_p.V664V	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	675	WD 4.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCCGTATACACGGGCAGGC	0.592													T	871999	C	T	871999	2	4	131	1	0	0	0	0	0	0	0	1	9434	465	17	4		4	MED16	19	871999	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	263889	871999	58256984	1849	78024											
SBNO2	22904	broad.mit.edu	37	chr19	1123582	1123582	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgtgccccagctcctcCgcctcctcctcctcagcctc	6	22	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:1123582C>T	uc002lrk.3	-	7	817	c.579G>A	c.(577-579)GCG>GCA	p.A193A	SBNO2_uc002lrj.3_Silent_p.A136A|SBNO2_uc010dse.2_Silent_p.A186A|SBNO2_uc010xgj.1_Silent_p.A136A|SBNO2_uc010dsf.2_Silent_p.A136A	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 isoform 1	193	Poly-Glu.				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent						0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGctcctccgcctcctcct	0.527													T	1123582	C	T	1123582	2	4	131	1	0	0	0	0	0	0	0	1	13863	639	23	1		1	SBNO2	19	1123582	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	251583	1123582	58005401	1850	78025											
PCSK4	54760	broad.mit.edu	37	chr19	1483414	1483414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggatggagttgtggaggccGgcgcaggccgatacgttttc	17	9	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:1483414G>A	uc002ltb.1	-	12	1502	c.1440C>T	c.(1438-1440)GCC>GCT	p.A480A	PCSK4_uc002lsz.2_5'UTR|PCSK4_uc002lta.2_Silent_p.A292A	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	480					proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGGAGGCCGGCGCAGGCCG	0.682													A	1483414	G	A	1483414	2	1	131	1	0	0	0	0	0	0	0	1	11602	1103	39	1		1	PCSK4	19	1483414	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	359832	1483414	57645569	1851	78026											
TLE2	7089	broad.mit.edu	37	chr19	3028804	3028805	+	Splice_Site	INS	-	-	G													ccggactggagcggggtctgINSgggggggtgtgggggaaacg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:3028803_3028804T>TG	uc010dth.3	-	2	288	c.25_splice	c.e2-1	p.T9_splice	TLE2_uc002lww.3_Splice_Site_p.T9_splice|TLE2_uc010xhc.2_Splice_Site|TLE2_uc010dti.3_Splice_Site_p.T22_splice|TLE2_uc010xhd.1_Splice_Site_p.T9_splice	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	9	Gln-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCGGGGTCTGGGGGGGGTGT	0.624													G	3028805	-	G	3028804	8	5	131	1	0	1	1	0	0	0	1	0	15936	1363	47	0		0	TLE2	19	3028804	Splice_Site	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1545390	3028804	56100179	1852	78027											
S1PR4	8698	broad.mit.edu	37	chr19	3179235	3179235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctttgccaccatggtgCggccggtggccgagagcggg	18	12	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:3179235C>T	uc002lxg.2	+	1	470	c.445C>T	c.(445-447)CGG>TGG	p.R149W		NM_003775	NP_003766	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4 precursor	149	Cytoplasmic (By similarity).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			lung(1)|skin(1)	2						CACCATGGTGCGGCCGGTGGC	0.692													T	3179235	C	T	3179235	3	4	131	1	0	0	0	0	1	0	0	0	13796	759	27	1	447	1	S1PR4	19	3179235	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	150431	3179235	55949748	1853	78028											
TJP3	27134	broad.mit.edu	37	chr19	3730369	3730369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagacagtgaaacgtccccGgaggatccacctgcccgcca	10	16	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:3730369G>A	uc010xhv.1	+	4	335	c.335G>A	c.(334-336)CGG>CAG	p.R112Q	TJP3_uc010xhs.1_Missense_Mutation_p.R93Q|TJP3_uc010xht.1_Missense_Mutation_p.R57Q|TJP3_uc010xhu.1_Missense_Mutation_p.R102Q|TJP3_uc010xhw.1_Missense_Mutation_p.R112Q	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	93	PDZ 1.					tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AAACGTCCCCGGAGGATCCAC	0.557													A	3730369	G	A	3730369	3	1	131	1	0	0	0	0	1	0	0	0	15928	1116	39	1	349	1	TJP3	19	3730369	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	551134	3730369	55398614	1854	78029											
ANKRD24	170961	broad.mit.edu	37	chr19	4207553	4207553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcacacagacctgtgccGtctcctactgcagcaagggg	12	13	2	1	rs146188452	by1000genomes	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:4207553G>A	uc010dtt.1	+	9	869	c.593G>A	c.(592-594)CGT>CAT	p.R198H	ANKRD24_uc002lzs.2_Missense_Mutation_p.R169H|ANKRD24_uc002lzt.2_Missense_Mutation_p.R170H	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	198	ANK 4.										0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GACCTGTGCCGTCTCCTACTG	0.493											OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	4207553	G	A	4207553	3	1	131	1	0	0	0	0	1	0	0	0	653	1145	40	1	623	1	ANKRD24	19	4207553	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	477184	4207553	54921430	1855	78030											
SEMA6B	10501	broad.mit.edu	37	chr19	4556000	4556000	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggagtctgaagactcacGctgtagttggcgcacaccgg	14	11	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:4556000G>A	uc010duc.1	-	5	509	c.471C>T	c.(469-471)AGC>AGT	p.S157S	SEMA6B_uc010dud.2_Silent_p.S157S|SEMA6B_uc010xih.1_Silent_p.S157S	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	157	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGACTCACGCTGTAGTTGG	0.592													A	4556000	G	A	4556000	2	1	131	1	0	0	0	0	0	0	0	1	14040	1101	38	1		1	SEMA6B	19	4556000	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	348447	4556000	54572983	1856	78031											
HSD11B1L	374875	broad.mit.edu	37	chr19	5687962	5687962	+	Frame_Shift_Del	DEL	G	G	-													gccgcggcagcctgagcaccGgggggtgcccctccagtccc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:5687962delG	uc002mck.2	+	8	954	c.704delG	c.(703-705)CGGfs	p.R235fs	HSD11B1L_uc002mcu.2_3'UTR|HSD11B1L_uc002mcl.2_Frame_Shift_Del_p.R154fs|HSD11B1L_uc002mcm.2_3'UTR|HSD11B1L_uc002mcq.2_Frame_Shift_Del_p.R101fs|HSD11B1L_uc002mcr.2_3'UTR|HSD11B1L_uc002mcs.2_3'UTR|HSD11B1L_uc010dug.2_3'UTR|HSD11B1L_uc002mct.2_3'UTR|HSD11B1L_uc002mco.2_3'UTR|HSD11B1L_uc002mcn.2_3'UTR|HSD11B1L_uc002mcp.2_3'UTR|RPL36_uc002mcv.2_5'Flank|RPL36_uc002mcw.2_5'Flank	NM_198533	NP_940935	Q7Z5J1	DHI1L_HUMAN	short-chain dehydrogenase/reductase 10 isoform	235						extracellular region	binding|oxidoreductase activity				0						CCTGAGCACCGGGGGGTGCCC	0.682													-	5687962	G	-	5687962	7	5	131	1	0	1	0	1	0	0	0	0	7376	1116	39	0	893	0	HSD11B1L	19	5687962	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	1131962	5687962	53441021	1857	78032											
INSR	3643	broad.mit.edu	37	chr19	7143042	7143042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggggaaagctgccaccGtgggcacggccaccgtcaca	14	13	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:7143042G>A	uc002mgd.1	-	12	2436	c.2327C>T	c.(2326-2328)ACG>ATG	p.T776M	INSR_uc002mge.1_Missense_Mutation_p.T764M	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	776	Fibronectin type-III 2.|Extracellular (Potential).				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGCTGCCACCGTGGGCACGGC	0.582													A	7143042	G	A	7143042	3	1	131	1	0	0	0	0	1	0	0	0	7773	1145	40	1	1865	1	INSR	19	7143042	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1455080	7143042	51985941	1858	78033											
INSR	3643	broad.mit.edu	37	chr19	7170609	7170609	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctggcgccccttggtTcctgaaacttcttccatctt	6	16	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:7170609T>A	uc002mgd.1	-	6	1531	c.1422A>T	c.(1420-1422)GGA>GGT	p.G474G	INSR_uc002mge.1_Silent_p.G474G|INSR_uc002mgf.2_Silent_p.G474G	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	474					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCCCCTTGGTTCCTGAAACTT	0.428													A	7170609	T	A	7170609	2	1	131	1	0	0	0	0	0	0	0	1	7773	1770	62	5		5	INSR	19	7170609	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	27567	7170609	51958374	1859	78034											
ARHGEF18	23370	broad.mit.edu	37	chr19	7521235	7521235	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctggctatcctgctgacCgacgtacttttgctgctaca	8	13	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:7521235C>T	uc002mgi.2	+	8	1816	c.1563C>T	c.(1561-1563)ACC>ACT	p.T521T	ARHGEF18_uc010xjm.1_Silent_p.T363T|ARHGEF18_uc002mgh.2_Silent_p.T363T|ARHGEF18_uc002mgj.1_Silent_p.T164T	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	521	PH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				TCCTGCTGACCGACGTACTTT	0.458													T	7521235	C	T	7521235	2	4	131	1	0	0	0	0	0	0	0	1	901	639	23	1		1	ARHGEF18	19	7521235	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	350626	7521235	51607748	1860	78035											
ZNF358	140467	broad.mit.edu	37	chr19	7585043	7585043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttcgggcagagctcggcGctgctgcagcaccagcgcac	14	16	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:7585043G>A	uc002mgn.2	+	2	1085	c.915G>A	c.(913-915)GCG>GCA	p.A305A	MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	305	C2H2-type 6.				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						AGAGCTCGGCGCTGCTGCAGC	0.701													A	7585043	G	A	7585043	2	1	131	1	0	0	0	0	0	0	0	1	17864	1074	38	1		1	ZNF358	19	7585043	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	63808	7585043	51543940	1861	78036											
LRRC8E	80131	broad.mit.edu	37	chr19	7963631	7963631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccagcaattgctgcctcGggggatccctgagcagattg	14	11	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:7963631G>A	uc002mir.2	+	3	325	c.224G>A	c.(223-225)CGG>CAG	p.R75Q		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	75						integral to membrane				lung(1)|pancreas(1)	2						TTGCTGCCTCGGGGGATCCCT	0.507													A	7963631	G	A	7963631	3	1	131	1	0	0	0	0	1	0	0	0	9025	1116	39	1	230	1	LRRC8E	19	7963631	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	378588	7963631	51165352	1862	78037											
ADAMTS10	81794	broad.mit.edu	37	chr19	8651494	8651494	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcttcgaggctctggaccTggtctggcccctgtcgcagt	15	13	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:8651494T>C	uc002mkj.1	-	20	2625	c.2351A>G	c.(2350-2352)CAG>CGG	p.Q784R	ADAMTS10_uc002mki.1_Missense_Mutation_p.Q271R|ADAMTS10_uc002mkk.1_Missense_Mutation_p.Q416R	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	784	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						GCTCTGGACCTGGTCTGGCCC	0.617											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	8651494	T	C	8651494	3	2	131	1	0	0	0	0	1	0	0	0	256	1580	55	3	988	3	ADAMTS10	19	8651494	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	687863	8651494	50477489	1863	78038											
MUC16	94025	broad.mit.edu	37	chr19	9083880	9083880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagggatggctggagtgtcCgggagtaaagtagggaagga	20	3	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:9083880C>T	uc002mkp.2	-	1	8139	c.7935G>A	c.(7933-7935)CCG>CCA	p.P2645P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2645	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTGGAGTGTCCGGGAGTAAAG	0.493													T	9083880	C	T	9083880	2	4	131	1	0	0	0	0	0	0	0	1	9973	639	23	1		1	MUC16	19	9083880	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	432386	9083880	50045103	1864	78039											
OR1M1	125963	broad.mit.edu	37	chr19	9204168	9204168	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccatccctaagatgctggTgagccttcaaaccgggagca	10	13	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:9204168T>C	uc010xkj.1	+	1	248	c.248T>C	c.(247-249)GTG>GCG	p.V83A		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M,	83	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3						AAGATGCTGGTGAGCCTTCAA	0.532													C	9204168	T	C	9204168	3	2	131	1	0	0	0	0	1	0	0	0	10968	1696	59	3	250	3	OR1M1	19	9204168	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	120288	9204168	49924815	1865	78040											
C19orf66	55337	broad.mit.edu	37	chr19	10200705	10200705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccacgtctggtggcgccgCgtgccccagcggaaggaggt	17	13	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:10200705C>T	uc002mmu.3	+	5	664	c.366C>T	c.(364-366)CGC>CGT	p.R122R	C19orf66_uc002mmv.3_Silent_p.R122R|C19orf66_uc002mmw.3_Silent_p.R71R	NM_018381	NP_060851	Q9NUL5	CS066_HUMAN	hypothetical protein LOC55337	122											0						GGTGGCGCCGCGTGCCCCAGC	0.577													T	10200705	C	T	10200705	2	4	131	1	0	0	0	0	0	0	0	1	1946	755	27	1		1	C19orf66	19	10200705	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	996537	10200705	48928278	1866	78041											
CDKN2D	1032	broad.mit.edu	37	chr19	10677960	10677960	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccccgtgctccactaggAccttcagggtgtccaggaat	11	14	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:10677960A>G	uc002mpa.2	-	2	577	c.275T>C	c.(274-276)GTC>GCC	p.V92A	KRI1_uc002mox.1_5'Flank|KRI1_uc002moy.1_5'Flank|CDKN2D_uc002mpb.2_Missense_Mutation_p.V92A	NM_001800	NP_001791	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D	92	ANK 2.				anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding				0			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CTCCACTAGGACCTTCAGGGT	0.597									Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System				G	10677960	A	G	10677960	3	3	131	1	0	0	0	0	1	0	0	0	3166	275	10	3	229	3	CDKN2D	19	10677960	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	477255	10677960	48451023	1867	78042											
SLC44A2	57153	broad.mit.edu	37	chr19	10753993	10753994	+	Frame_Shift_Ins	INS	-	-	TAAG													tgacggctcggccgagaggcINScttacttcatgtcttccacc					rs17403917		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:10753993_10753994insTAAG	uc002mpf.2	+	22	2192_2193	c.2053_2054insTAAG	c.(2053-2055)CCTfs	p.P685fs	SLC44A2_uc002mpe.3_Frame_Shift_Ins_p.P683fs|SLC44A2_uc002mpg.1_3'UTR|SLC44A2_uc002mph.2_Frame_Shift_Ins_p.P234fs|SLC44A2_uc002mpi.2_3'UTR	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	solute carrier family 44, member 2 isoform 1	685	Cytoplasmic (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			ovary(1)	1			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GGCCGAGAGGCCTTACTTCATG	0.604													TAAG	10753994	-	TAAG	10753993	7	5	131	1	0	1	1	0	0	0	0	0	14636	739	26	0	2174	0	SLC44A2	19	10753993	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	76033	10753993	48374990	1868	78043	387	2									
SLC44A2	57153	broad.mit.edu	37	chr19	10753994	10753995	+	Frame_Shift_Ins	INS	-	-	TAAG													gacggctcggccgagaggccINSttacttcatgtcttccaccc					rs17403917		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:10753993_10753994C>CTAAG	uc002mpf.3	+	21	2192_2193	c.2053_2054C>CTAAG	c.(2053-2055)cctfs	p.P685fs	SLC44A2_uc002mpe.4_Frame_Shift_Ins_p.P683fs|SLC44A2_uc002mpg.1_3'UTR|SLC44A2_uc002mph.3_Frame_Shift_Ins_p.P234fs|SLC44A2_uc002mpi.3_3'UTR	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	685					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GGCCGAGAGGCCTTACTTCATG	0.604													TAAG	10753995	-	TAAG	10753994	7	5	131	1	0	1	1	0	0	0	0	0	14636	681	24	0	2175	0	SLC44A2	19	10753994	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	10753994	48374989	1869	78044	387	2									
MAN2B1	4125	broad.mit.edu	37	chr19	12772078	12772078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtaggcgcactgacctgcGcatttaccagccggatgagc	14	12	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:12772078G>A	uc002mub.2	-	7	1098	c.1022C>T	c.(1021-1023)GCG>GTG	p.A341V	MAN2B1_uc010dyv.1_Missense_Mutation_p.A341V	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	341					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						ACTGACCTGCGCATTTACCAG	0.517													A	12772078	G	A	12772078	3	1	131	1	0	0	0	0	1	0	0	0	9216	1087	38	1	2085	1	MAN2B1	19	12772078	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2018084	12772078	46356905	1870	78045											
PRDX2	7001	broad.mit.edu	37	chr19	12910705	12910705	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtctgtgtactggaaggccTggaccagccgcagagcctca	13	13	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:12910705T>C	uc002mvd.2	-	5	629	c.479A>G	c.(478-480)CAG>CGG	p.Q160R		NM_005809	NP_005800	P32119	PRDX2_HUMAN	peroxiredoxin 2 isoform a	160	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity				0						CTGGAAGGCCTGGACCAGCCG	0.502													C	12910705	T	C	12910705	3	2	131	1	0	0	0	0	1	0	0	0	12465	1580	55	3	125	3	PRDX2	19	12910705	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	138627	12910705	46218278	1871	78046											
GCDH	2639	broad.mit.edu	37	chr19	13008170	13008170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgattcagaagaagctggCagacatgctcactgagatta	11	8	2	5			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:13008170C>T	uc002mvq.2	+	10	1087	c.1010C>T	c.(1009-1011)GCA>GTA	p.A337V	GCDH_uc010xms.1_Missense_Mutation_p.A304V|GCDH_uc002mvp.2_Missense_Mutation_p.A337V|GCDH_uc010xmt.1_Missense_Mutation_p.A171V|GCDH_uc010xmu.1_Missense_Mutation_p.A293V	NM_000159	NP_000150	Q92947	GCDH_HUMAN	glutaryl-Coenzyme A dehydrogenase isoform a	337					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding				0						AAGAAGCTGGCAGACATGCTC	0.622													T	13008170	C	T	13008170	3	4	131	1	0	0	0	0	1	0	0	0	6287	710	25	2	1044	2	GCDH	19	13008170	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	97465	13008170	46120813	1872	78047											
NACC1	112939	broad.mit.edu	37	chr19	13248179	13248181	+	In_Frame_Del	DEL	CTT	CTT	-													ctgcggcggctcctggcctcCttctttgaccggtaaggccc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:13248179_13248181delCTT	uc002mwm.2	+	4	1383_1385	c.1215_1217delCTT	c.(1213-1218)TCCTTC>TCC	p.F407del		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	transcriptional repressor NAC1	407	BEN.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body					0						TCCTGGCCTCCTTCTTTGACCGG	0.65													-	13248181	CTT	-	13248179	7	5	131	1	0	1	0	1	0	0	0	0	10135	668	24	0	1225	0	NACC1	19	13248179	In_Frame_Del	DEL	CTT	TCGA-BR-A4QL-01A-31D-A25D-08	240009	13248179	45880804	1873	78048											
CC2D1A	54862	broad.mit.edu	37	chr19	14034191	14034191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgactttgccctggtccagCggcctggcccgggtctgtct	13	15	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:14034191C>T	uc002mxo.2	+	15	1986	c.1687C>T	c.(1687-1689)CGG>TGG	p.R563W	CC2D1A_uc002mxp.2_Missense_Mutation_p.R563W|CC2D1A_uc010dzh.2_Missense_Mutation_p.R132W|CC2D1A_uc002mxq.1_Missense_Mutation_p.R208W	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	563					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCTGGTCCAGCGGCCTGGCCC	0.687													T	14034191	C	T	14034191	3	4	131	1	0	0	0	0	1	0	0	0	2726	759	27	1	1745	1	CC2D1A	19	14034191	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	786012	14034191	45094792	1874	78049											
PRKACA	5566	broad.mit.edu	37	chr19	14217673	14217673	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgccgagggtcttgattcGttcaaactgatccaagtggg	13	9	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:14217673G>A	uc002myc.2	-	3	336	c.136C>T	c.(136-138)CGA>TGA	p.R46*	PRKACA_uc002myb.2_Nonsense_Mutation_p.R38*|PRKACA_uc010xnm.1_Translation_Start_Site|PRKACA_uc002myd.2_Translation_Start_Site	NM_002730	NP_002721	P17612	KAPCA_HUMAN	cAMP-dependent protein kinase catalytic subunit	46	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			lung(1)	1						GTCTTGATTCGTTCAAACTGA	0.602													A	14217673	G	A	14217673	4	1	131	1	0	0	0	0	0	1	0	0	12497	1153	40	1	951	1	PRKACA	19	14217673	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	183482	14217673	44911310	1875	78050											
BRD4	23476	broad.mit.edu	37	chr19	15355182	15355182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatggggtcaaagacgctgCctgggagctggggctccagg	18	10	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:15355182C>T	uc002nar.2	-	13	2663	c.2441G>A	c.(2440-2442)GGC>GAC	p.G814D		NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	814					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)			AAAGACGCTGCCTGGGAGCTG	0.667			T	NUT|C15orf55	lethal midline carcinoma of young people								T	15355182	C	T	15355182	3	4	131	1	0	0	0	0	1	0	0	0	1504	739	26	2	1679	2	BRD4	19	15355182	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1137509	15355182	43773801	1876	78051											
WIZ	58525	broad.mit.edu	37	chr19	15536330	15536330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgggcccaggggccacgGtgggaggcccgtcctcagcc	17	16	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:15536330G>A	uc002nbc.2	-	5	1876	c.1853C>T	c.(1852-1854)ACC>ATC	p.T618I	WIZ_uc002nba.3_Missense_Mutation_p.T485I|WIZ_uc002nbb.3_Missense_Mutation_p.T444I	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	1301						nucleus	zinc ion binding				0						AGGGGCCACGGTGGGAGGCCC	0.697													A	15536330	G	A	15536330	3	1	131	1	0	0	0	0	1	0	0	0	17372	1261	44	4	1069	4	WIZ	19	15536330	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	181148	15536330	43592653	1877	78052											
CYP4F12	66002	broad.mit.edu	37	chr19	15795637	15795637	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctcttcaggatgaagatggGaaggcattgtcagatgagga	14	5	3	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:15795637G>A	uc002nbl.2	+	8	991	c.930G>A	c.(928-930)GGG>GGA	p.G310G		NM_023944	NP_076433			cytochrome P450, family 4, subfamily F,											skin(3)|ovary(2)|central_nervous_system(2)	7	Acute lymphoblastic leukemia(2;0.0367)					ATGAAGATGGGAAGGCATTGT	0.388													A	15795637	G	A	15795637	2	1	131	1	0	0	0	0	0	0	0	1	4187	1161	41	4		4	CYP4F12	19	15795637	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	259307	15795637	43333346	1878	78053											
HSH2D	84941	broad.mit.edu	37	chr19	16268143	16268143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcccctcttggagagaccCgccagaaactctggaggagc	11	13	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:16268143C>T	uc002ndp.3	+	8	1129	c.598C>T	c.(598-600)CGC>TGC	p.R200C	HSH2D_uc002ndr.2_Missense_Mutation_p.R143C|HSH2D_uc010ead.2_RNA	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	200						cytoplasm|nucleus					0						TGGAGAGACCCGCCAGAAACT	0.552													T	16268143	C	T	16268143	3	4	131	1	0	0	0	0	1	0	0	0	7400	652	23	1	616	1	HSH2D	19	16268143	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	472506	16268143	42860840	1879	78054											
CPAMD8	27151	broad.mit.edu	37	chr19	17100545	17100545	+	Frame_Shift_Del	DEL	C	C	-													gtagctgggcaggtactgagCccccacaggcttcccgttca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:17100545delC	uc002nfb.2	-	13	1476	c.1444delG	c.(1444-1446)GCTfs	p.A482fs		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	435						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						AGGTACTGAGCCCCCACAGGC	0.592													-	17100545	C	-	17100545	7	5	131	1	0	1	0	1	0	0	0	0	3795	739	26	0	4474	0	CPAMD8	19	17100545	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	832402	17100545	42028438	1880	78055											
ABHD8	79575	broad.mit.edu	37	chr19	17411739	17411739	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcgcatgtcctcagccagCgcatagaaggtgtaggctgc	13	12	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:17411739C>T	uc002ngb.3	-	2	927	c.687G>A	c.(685-687)GCG>GCA	p.A229A		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	229							hydrolase activity				0						CCTCAGCCAGCGCATAGAAGG	0.602													T	17411739	C	T	17411739	2	4	131	1	0	0	0	0	0	0	0	1	87	755	27	1		1	ABHD8	19	17411739	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	311194	17411739	41717244	1881	78056											
GLT25D1	79709	broad.mit.edu	37	chr19	17683348	17683348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattcttgccagtgccattgCgcgcccacagcaccctccag	9	17	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:17683348C>T	uc002nhc.1	+	6	898	c.886C>T	c.(886-888)CGC>TGC	p.R296C	GLT25D1_uc010eax.1_Intron	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	glycosyltransferase 25 domain containing 1	296					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity				0						AGTGCCATTGCGCGCCCACAG	0.557													T	17683348	C	T	17683348	3	4	131	1	0	0	0	0	1	0	0	0	6466	768	27	1	908	1	GLT25D1	19	17683348	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	271609	17683348	41445635	1882	78057											
B3GNT3	10331	broad.mit.edu	37	chr19	17922600	17922600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtgactcagaatgagcGgtacccaccctattgtgggg	15	9	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:17922600G>A	uc002nhk.1	+	3	873	c.788G>A	c.(787-789)CGG>CAG	p.R263Q	B3GNT3_uc002nhl.1_Missense_Mutation_p.R263Q|B3GNT3_uc010ebd.1_Missense_Mutation_p.R263Q|B3GNT3_uc010ebe.1_Missense_Mutation_p.R263Q	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal	263	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			upper_aerodigestive_tract(1)	1						CAGAATGAGCGGTACCCACCC	0.602													A	17922600	G	A	17922600	3	1	131	1	0	0	0	0	1	0	0	0	1258	1116	39	1	794	1	B3GNT3	19	17922600	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	239252	17922600	41206383	1883	78058											
JAK3	3718	broad.mit.edu	37	chr19	17948862	17948862	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaaggacccatggcccAggttctcatgctgaatggtg	14	9	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:17948862A>C	uc002nhn.3	-	12	1680	c.1580T>G	c.(1579-1581)CTG>CGG	p.L527R	JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.L527R	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	527	Protein kinase 1.		L -> P (in a gastric adenocarcinoma sample; somatic mutation).		B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.L527P(1)		haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						CCCATGGCCCAGGTTCTCATG	0.572		2	Mis		acute megakaryocytic leukemia|								C	17948862	A	C	17948862	3	2	131	1	0	0	0	0	1	0	0	0	7939	188	7	5	1846	5	JAK3	19	17948862	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	26262	17948862	41180121	1884	78059											
KCNN1	3780	broad.mit.edu	37	chr19	18092827	18092827	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaacaagatcaccttcaacAcgcgcttcgtcatgaagaca	6	13	4	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:18092827A>G	uc002nht.2	+	5	1118	c.808A>G	c.(808-810)ACG>GCG	p.T270A	KCNN1_uc010xqa.1_Missense_Mutation_p.T270A	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance	270					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity				0						CACCTTCAACACGCGCTTCGT	0.612													G	18092827	A	G	18092827	3	3	131	1	0	0	0	0	1	0	0	0	8078	159	6	3	818	3	KCNN1	19	18092827	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	143965	18092827	41036156	1885	78060											
KIAA1683	80726	broad.mit.edu	37	chr19	18378115	18378115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcccggaggcgtgggaCgcggcgggacgccgtcttgc	18	14	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:18378115C>T	uc002nin.2	-	3	451	c.235G>A	c.(235-237)GTC>ATC	p.V79I	KIAA1683_uc010ebn.2_Missense_Mutation_p.V79I|KIAA1683_uc010xqe.1_Missense_Mutation_p.V33I	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	79						mitochondrion				ovary(2)	2						AGGCGTGGGACGCGGCGGGAC	0.632													T	18378115	C	T	18378115	3	4	131	1	0	0	0	0	1	0	0	0	8251	536	19	1	3876	1	KIAA1683	19	18378115	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	285288	18378115	40750868	1886	78061											
GDF15	9518	broad.mit.edu	37	chr19	18499097	18499097	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatctgtcttcccacagtGcggctgggatccggcggcca	12	15	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:18499097G>A	uc002niv.2	+	2	311	c.279G>A	c.(277-279)GTG>GTA	p.V93V		NM_004864	NP_004855	Q99988	GDF15_HUMAN	growth differentiation factor 15	93					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)	1						TTCCCACAGTGCGGCTGGGAT	0.577											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	18499097	G	A	18499097	2	1	131	1	0	0	0	0	0	0	0	1	6313	1333	46	2		2	GDF15	19	18499097	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	120982	18499097	40629886	1887	78062											
ELL	8178	broad.mit.edu	37	chr19	18569015	18569015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatgggaggcggcattacCggacgagcacccgcttcagc	16	12	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:18569015C>T	uc002njh.2	-	6	941	c.869G>A	c.(868-870)CGG>CAG	p.R290Q	ELL_uc010ebq.2_Missense_Mutation_p.R233Q|ELL_uc002njg.2_Missense_Mutation_p.R157Q	NM_006532	NP_006523	P55199	ELL_HUMAN	elongation factor RNA polymerase II	290					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			lung(1)	1				GBM - Glioblastoma multiforme(1328;7.81e-07)		GCGGCATTACCGGACGAGCAC	0.627			T	MLL	AL								T	18569015	C	T	18569015	3	4	131	1	0	0	0	0	1	0	0	0	5062	666	23	1	1024	1	ELL	19	18569015	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	69918	18569015	40559968	1888	78063											
KLHL26	55295	broad.mit.edu	37	chr19	18779108	18779108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacgagatgcagtctccgCgcaccgccgtgcgctcggat	13	15	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:18779108C>T	uc002njz.1	+	3	928	c.901C>T	c.(901-903)CGC>TGC	p.R301C		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	301										ovary(1)	1						GCAGTCTCCGCGCACCGCCGT	0.662													T	18779108	C	T	18779108	3	4	131	1	0	0	0	0	1	0	0	0	8381	768	27	1	911	1	KLHL26	19	18779108	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	210093	18779108	40349875	1889	78064											
SFRS14	10147	broad.mit.edu	37	chr19	19112468	19112468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggcctgtcataggcaattCgaactggttcatggactaga	12	8	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:19112468C>T	uc002nkx.2	-	8	3091	c.2945G>A	c.(2944-2946)CGA>CAA	p.R982Q	SFRS14_uc002nkz.1_Missense_Mutation_p.R996Q|SFRS14_uc002nla.1_Missense_Mutation_p.R982Q|SFRS14_uc002nlb.2_Missense_Mutation_p.R982Q|SFRS14_uc010xqk.1_Missense_Mutation_p.R751Q	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	982					mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)			ATAGGCAATTCGAACTGGTTC	0.403													T	19112468	C	T	19112468	3	4	131	1	0	0	0	0	1	0	0	0	14170	884	31	1	315	1	SFRS14	19	19112468	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	333360	19112468	40016515	1890	78065											
NR2C2AP	126382	broad.mit.edu	37	chr19	19312842	19312842	+	Frame_Shift_Del	DEL	G	G	-													tccacttcagcagctggtatGgggaaagtgtgagcgtgggc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:19312841_19312841TG>T	uc002nlx.3	-	4	682	c.313_313CA>A	c.(313-315)atafs	p.I105fs	NR2C2AP_uc010xqq.1_Non-coding_Transcript	NM_176880	NP_795361	Q86WQ0	NR2CA_HUMAN	Homo sapiens nuclear receptor 2C2-associated protein (NR2C2AP), mRNA.	105					cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			GCAGCTGGTATGGGGAAAGTG	0.582													-	19312842	G	-	19312842	7	5	131	1	0	1	0	1	0	0	0	0	10624	1335	47	0	111	0	NR2C2AP	19	19312842	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	200374	19312842	39816141	1891	78066											
HAPLN4	404037	broad.mit.edu	37	chr19	19371881	19371881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgccgtcgtgaccgtgggcGgctgcctcatagtggtagcg	16	12	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:19371881G>A	uc002nmb.2	-	3	280	c.225C>T	c.(223-225)GCC>GCT	p.A75A	HAPLN4_uc002nmc.2_Silent_p.A75A	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	75	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)			GACCGTGGGCGGCTGCCTCAT	0.662													A	19371881	G	A	19371881	2	1	131	1	0	0	0	0	0	0	0	1	6957	1103	39	1		1	HAPLN4	19	19371881	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	59039	19371881	39757102	1892	78067											
ATP13A1	57130	broad.mit.edu	37	chr19	19762529	19762529	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggctgcaggatcagcgtGtgggccttttcaatgaagtg	16	7	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:19762529G>A	uc002nnh.3	-	17	2332	c.2304C>T	c.(2302-2304)CAC>CAT	p.H768H	ATP13A1_uc002nne.2_5'UTR|ATP13A1_uc002nnf.3_Silent_p.H136H|ATP13A1_uc002nng.2_Silent_p.H650H	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	768	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						GGATCAGCGTGTGGGCCTTTT	0.612													A	19762529	G	A	19762529	2	1	131	1	0	0	0	0	0	0	0	1	1123	1368	48	4		4	ATP13A1	19	19762529	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	390648	19762529	39366454	1893	78068											
ZNF536	9745	broad.mit.edu	37	chr19	30934862	30934862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaagaaccgcaagtacccGtgcccactctgcggcaagcg	11	16	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:30934862G>A	uc002nsu.1	+	2	531	c.393G>A	c.(391-393)CCG>CCA	p.P131P	ZNF536_uc010edd.1_Silent_p.P131P	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	131	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GCAAGTACCCGTGCCCACTCT	0.627													A	30934862	G	A	30934862	2	1	131	1	0	0	0	0	0	0	0	1	17971	1132	40	1		1	ZNF536	19	30934862	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	11172333	30934862	28194121	1894	78069											
TSHZ3	57616	broad.mit.edu	37	chr19	31767913	31767913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatatgcatccgctcctggGggctcaggtctgacatgatg	13	10	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:31767913G>A	uc002nsy.3	-	2	2851	c.2786C>T	c.(2785-2787)CCC>CTC	p.P929L		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	929	Homeobox; atypical.				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					CCGCTCCTGGGGGCTCAGGTC	0.592													A	31767913	G	A	31767913	3	1	131	1	0	0	0	0	1	0	0	0	16622	1232	43	4	463	4	TSHZ3	19	31767913	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	833051	31767913	27361070	1895	78070											
KIAA0355	9710	broad.mit.edu	37	chr19	34833075	34833075	+	Frame_Shift_Del	DEL	C	C	-													agcccattggaccgcagcagCccccgccccagcctcgggca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:34833075delC	uc002nvd.3	+	10	3095	c.2236delC	c.(2236-2238)CCCfs	p.P746fs		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	746										ovary(1)	1	Esophageal squamous(110;0.162)					ACCGCAGCAGCCCCCGCCCCA	0.627													-	34833075	C	-	34833075	7	5	131	1	0	1	0	1	0	0	0	0	8170	739	26	0	2270	0	KIAA0355	19	34833075	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	3065162	34833075	24295908	1896	78071											
ATP4A	495	broad.mit.edu	37	chr19	36046232	36046232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccgtgacggccacaatcGcaccctgcaggcagtgggtg	13	16	0	1	rs145835787		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:36046232G>A	uc002oal.1	-	15	2191	c.2162C>T	c.(2161-2163)GCG>GTG	p.A721V	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	721	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGCCACAATCGCACCCTGCAG	0.642													A	36046232	G	A	36046232	3	1	131	1	0	0	0	0	1	0	0	0	1145	1087	38	1	977	1	ATP4A	19	36046232	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1213157	36046232	23082751	1897	78072											
ATP4A	495	broad.mit.edu	37	chr19	36050958	36050958	+	Frame_Shift_Del	DEL	C	C	-													gcggtcgcccgtgttcaccaCcaggccctgcacggtgcctg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:36050957_36050957AC>A	uc002oal.1	-	6	835	c.806_806GT>T	c.(805-807)gtgfs	p.V269fs	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	269					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CGTGTTCACCACCAGGCCCTG	0.642													-	36050958	C	-	36050958	7	5	131	1	0	1	0	1	0	0	0	0	1145	507	18	0	2366	0	ATP4A	19	36050958	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	4726	36050958	23078025	1898	78073											
HAUS5	23354	broad.mit.edu	37	chr19	36106176	36106176	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acactcaagacacccagcgtCgagctctcctcctccgggcc	8	19	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:36106176C>T	uc002oam.1	+	6	424	c.373C>T	c.(373-375)CGA>TGA	p.R125*		NM_015302	NP_056117	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	125					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle					0						CACCCAGCGTCGAGCTCTCCT	0.632													T	36106176	C	T	36106176	4	4	131	1	0	0	0	0	0	1	0	0	6969	876	31	1	395	1	HAUS5	19	36106176	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	55218	36106176	23022807	1899	78074											
MLL4	9757	broad.mit.edu	37	chr19	36223432	36223432	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgacctggacttcgcGgccagcctgctggggactga	15	13	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:36223432G>A	uc010eei.2	+	29	5982	c.5982G>A	c.(5980-5982)GCG>GCA	p.A1994A		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1994					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGACTTCGCGGCCAGCCTGC	0.677													A	36223432	G	A	36223432	2	1	131	1	0	0	0	0	0	0	0	1	9623	1103	39	1		1	MLL4	19	36223432	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	117256	36223432	22905551	1900	78075											
MLL4	9757	broad.mit.edu	37	chr19	36228635	36228635	+	Frame_Shift_Del	DEL	G	G	-													agaggatgaggtgcagctcaGgtcaaccaggtatggagtgt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:36228635delG	uc010eei.2	+	35	7649	c.7649delG	c.(7648-7650)AGGfs	p.R2550fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2550					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGCAGCTCAGGTCAACCAGG	0.597													-	36228635	G	-	36228635	7	5	131	1	0	1	0	1	0	0	0	0	9623	1000	35	0	7783	0	MLL4	19	36228635	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	5203	36228635	22900348	1901	78076											
TMEM149	79713	broad.mit.edu	37	chr19	36230720	36230720	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgggtgttggggactccGcagaccaagccaggataggg	18	8	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:36230720G>A	uc002obc.2	-	4	713	c.612C>T	c.(610-612)TGC>TGT	p.C204C	TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Silent_p.C204C|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Silent_p.C284C	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	transmembrane protein 149 precursor	204	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding|receptor activity				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGGGACTCCGCAGACCAAGC	0.602													A	36230720	G	A	36230720	2	1	131	1	0	0	0	0	0	0	0	1	16059	1079	38	1		1	TMEM149	19	36230720	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2085	36230720	22898263	1902	78077											
NPHS1	4868	broad.mit.edu	37	chr19	36333366	36333366	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagcgccagcctgggccagTttggcatggtgaatccgcag	14	11	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:36333366T>C	uc002oby.2	-	18	2421	c.2421A>G	c.(2419-2421)AAA>AAG	p.K807K		NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	807	Ig-like C2-type 7.|Extracellular (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTGGGCCAGTTTGGCATGGT	0.592													C	36333366	T	C	36333366	2	2	131	1	0	0	0	0	0	0	0	1	10582	1722	60	3		3	NPHS1	19	36333366	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	102646	36333366	22795617	1903	78078											
NPHS1	4868	broad.mit.edu	37	chr19	36339017	36339017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcacccgggtcccagcccGgagcttctggccctctgggg	13	18	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:36339017G>A	uc002oby.2	-	11	1366	c.1366C>T	c.(1366-1368)CGG>TGG	p.R456W		NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	456	Extracellular (Potential).|Ig-like C2-type 5.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTCCCAGCCCGGAGCTTCTGG	0.622													A	36339017	G	A	36339017	3	1	131	1	0	0	0	0	1	0	0	0	10582	1115	39	1	2435	1	NPHS1	19	36339017	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	5651	36339017	22789966	1904	78079											
KIRREL2	84063	broad.mit.edu	37	chr19	36351456	36351456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctccggtgctcggggcccGcgggccaaggttagaggtcg	17	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:36351456G>A	uc002ocb.3	+	7	1027	c.815G>A	c.(814-816)CGC>CAC	p.R272H	KIRREL2_uc002obz.3_Missense_Mutation_p.R272H|KIRREL2_uc002oca.3_Missense_Mutation_p.R222H|KIRREL2_uc002occ.3_Missense_Mutation_p.R219H|KIRREL2_uc002ocd.3_Missense_Mutation_p.R269H	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	272	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCGGGGCCCGCGGGCCAAGG	0.652													A	36351456	G	A	36351456	3	1	131	1	0	0	0	0	1	0	0	0	8325	1087	38	1	841	1	KIRREL2	19	36351456	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	12439	36351456	22777527	1905	78080											
APLP1	333	broad.mit.edu	37	chr19	36370282	36370282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggaggagcagcagctccGcgaactgcagcggcacggct	15	14	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:36370282G>A	uc002oce.2	+	17	2030	c.1892G>A	c.(1891-1893)CGC>CAC	p.R631H	APLP1_uc010xsz.1_Missense_Mutation_p.R592H|APLP1_uc002ocf.2_Missense_Mutation_p.R632H|APLP1_uc002ocg.2_Missense_Mutation_p.R535H|APLP1_uc010xta.1_Missense_Mutation_p.R625H	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	631	Cytoplasmic (Potential).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			ovary(2)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGCAGCTCCGCGAACTGCAG	0.667													A	36370282	G	A	36370282	3	1	131	1	0	0	0	0	1	0	0	0	778	1087	38	1	1961	1	APLP1	19	36370282	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	18826	36370282	22758701	1906	78081											
ZNF567	163081	broad.mit.edu	37	chr19	37211524	37211524	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttataagagaaacctcaTtgtccatcaaagaactcaca	5	10	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:37211524T>G	uc010xtl.1	+	6	2120	c.1898T>G	c.(1897-1899)ATT>AGT	p.I633S	ZNF567_uc002oep.3_Missense_Mutation_p.I602S|ZNF567_uc002oeq.1_Intron	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	zinc finger protein 567	633	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAAACCTCATTGTCCATCAA	0.333													G	37211524	T	G	37211524	3	3	131	1	0	0	0	0	1	0	0	0	17995	1493	52	5	1815	5	ZNF567	19	37211524	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	841242	37211524	21917459	1907	78082											
ZNF607	84775	broad.mit.edu	37	chr19	38190535	38190535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacattcataaggtttctcaCgagcattaattttctgatgc	6	9	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:38190535C>T	uc002ohc.1	-	5	1093	c.497G>A	c.(496-498)CGT>CAT	p.R166H	ZNF607_uc002ohb.1_Missense_Mutation_p.R165H	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			AGGTTTCTCACGAGCATTAAT	0.383													T	38190535	C	T	38190535	3	4	131	1	0	0	0	0	1	0	0	0	18030	536	19	1	1597	1	ZNF607	19	38190535	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	979011	38190535	20938448	1908	78083											
SIPA1L3	23094	broad.mit.edu	37	chr19	38609985	38609986	+	Frame_Shift_Ins	INS	-	-	C													aagacgctcctcctttcggcINSccccccatccccagtggaac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:38609984_38609985G>GC	uc002ohk.3	+	8	2839_2840	c.2330_2331G>GC	c.(2329-2331)ggcfs	p.G777fs		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	777	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.G777A(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCTCCTTTCGGCCCCCCCATCC	0.535													C	38609986	-	C	38609985	7	5	131	1	0	1	1	0	0	0	0	0	14331	726	26	0	2357	0	SIPA1L3	19	38609985	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	419450	38609985	20518998	1909	78084											
MAP4K1	11184	broad.mit.edu	37	chr19	39108029	39108029	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtaggccacgatgttggcGtgccggcaagttttcaatat	13	8	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:39108029G>A	uc002oix.1	-	3	321	c.213C>T	c.(211-213)CAC>CAT	p.H71H	MAP4K1_uc002oiy.1_Silent_p.H71H|EIF3K_uc010xuh.1_5'Flank|EIF3K_uc002oiz.1_5'Flank|EIF3K_uc010xui.1_5'Flank	NM_007181	NP_009112	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase	71	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			skin(4)|lung(3)|ovary(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGATGTTGGCGTGCCGGCAAG	0.557													A	39108029	G	A	39108029	2	1	131	1	0	0	0	0	0	0	0	1	9259	1136	40	1		1	MAP4K1	19	39108029	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	498044	39108029	20020954	1910	78085											
CAPN12	147968	broad.mit.edu	37	chr19	39233692	39233692	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggctcccctgacacacGtctgtgcggctcatgtcttc	9	17	3	1	rs149932497		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:39233692G>A	uc002ojd.1	-	2	597	c.288C>T	c.(286-288)GAC>GAT	p.D96D		NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	96	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCTGACACACGTCTGTGCGGC	0.522													A	39233692	G	A	39233692	2	1	131	1	0	0	0	0	0	0	0	1	2625	1136	40	1		1	CAPN12	19	39233692	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	125663	39233692	19895291	1911	78086											
LRFN1	57622	broad.mit.edu	37	chr19	39798594	39798594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccttcgagggcccaccgcGgcccgagactcctccccgga	11	20	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:39798594G>A	uc002okw.2	-	2	1995	c.1995C>T	c.(1993-1995)GCC>GCT	p.A665A		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	665	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGCCCACCGCGGCCCGAGACT	0.721													A	39798594	G	A	39798594	2	1	131	1	0	0	0	0	0	0	0	1	8937	1103	39	1		1	LRFN1	19	39798594	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	564902	39798594	19330389	1912	78087											
SUPT5H	6829	broad.mit.edu	37	chr19	39963854	39963854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtccccaggggctcacggcGcccgggcggcatgacctcga	15	17	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:39963854G>A	uc002olo.3	+	24	2449	c.2270G>A	c.(2269-2271)CGC>CAC	p.R757H	SUPT5H_uc002olp.3_Missense_Mutation_p.R757H|SUPT5H_uc002olq.3_Missense_Mutation_p.R753H|SUPT5H_uc002oln.3_Missense_Mutation_p.R757H|SUPT5H_uc002olr.3_Missense_Mutation_p.R757H|SUPT5H_uc002ols.1_Missense_Mutation_p.R380H|SUPT5H_uc010egp.1_Silent_p.A122A	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	757	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.|CTR1-1; approximate.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCTCACGGCGCCCGGGCGGC	0.667													A	39963854	G	A	39963854	3	1	131	1	0	0	0	0	1	0	0	0	15396	1087	38	1	2360	1	SUPT5H	19	39963854	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	165260	39963854	19165129	1913	78088											
FCGBP	8857	broad.mit.edu	37	chr19	40364397	40364397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcacagggcaggagtcacCgcagagctcatagtggctgt	14	11	3	1	rs148917660	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:40364397C>T	uc002omp.3	-	31	14253	c.14245G>A	c.(14245-14247)GGT>AGT	p.G4749S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4749	TIL 11.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGGAGTCACCGCAGAGCTCA	0.647													T	40364397	C	T	40364397	3	4	131	1	0	0	0	0	1	0	0	0	5778	652	23	1	1996	1	FCGBP	19	40364397	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	400543	40364397	18764586	1914	78089											
FCGBP	8857	broad.mit.edu	37	chr19	40424533	40424533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagggagactggcaggcgcGagcgctggttgtcaacctgc	16	11	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:40424533G>A	uc002omp.3	-	4	1678	c.1670C>T	c.(1669-1671)TCG>TTG	p.S557L		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	557	VWFD 1.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGCAGGCGCGAGCGCTGGTT	0.582													A	40424533	G	A	40424533	3	1	131	1	0	0	0	0	1	0	0	0	5778	1059	37	1	14679	1	FCGBP	19	40424533	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	60136	40424533	18704450	1915	78090											
HIPK4	147746	broad.mit.edu	37	chr19	40886655	40886655	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggtgccttctcctctcGgaagaaggggctgctgccgg	14	13	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:40886655G>A	uc002onp.2	-	3	1528	c.1243C>T	c.(1243-1245)CGA>TGA	p.R415*		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	415						cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TTCTCCTCTCGGAAGAAGGGG	0.632													A	40886655	G	A	40886655	4	1	131	1	0	0	0	0	0	1	0	0	7119	1124	39	1	615	1	HIPK4	19	40886655	Nonsense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	462122	40886655	18242328	1916	78091											
PRX	57716	broad.mit.edu	37	chr19	40900561	40900561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctgtggccgcctcgcccGcctgtgcctctcggcttagc	12	19	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:40900561G>A	uc002onr.2	-	7	3967	c.3698C>T	c.(3697-3699)GCG>GTG	p.A1233V	PRX_uc002onq.2_Missense_Mutation_p.A1094V|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1233	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGCCTCGCCCGCCTGTGCCTC	0.682													A	40900561	G	A	40900561	3	1	131	1	0	0	0	0	1	0	0	0	12642	1087	38	1	691	1	PRX	19	40900561	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	13906	40900561	18228422	1917	78092											
LTBP4	8425	broad.mit.edu	37	chr19	41116547	41116547	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggtaccaggctgcaccgcaCggagccagctgccagggtga	16	13	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:41116547C>G	uc002ooh.1	+	15	1995	c.1995C>G	c.(1993-1995)CAC>CAG	p.H665Q	LTBP4_uc002oog.1_Missense_Mutation_p.H628Q|LTBP4_uc002ooi.1_Missense_Mutation_p.H598Q|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc010xvo.1_Missense_Mutation_p.T37R|LTBP4_uc010ehb.1_5'Flank|LTBP4_uc002ook.1_5'Flank|LTBP4_uc002ool.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	665	Cys-rich.|EGF-like 5; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGCACCGCACGGAGCCAGCT	0.687													G	41116547	C	G	41116547	3	3	131	1	0	0	0	0	1	0	0	0	9076	535	19	5	2346	5	LTBP4	19	41116547	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	215986	41116547	18012436	1918	78093											
LTBP4	8425	broad.mit.edu	37	chr19	41133678	41133678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggacggctgcaccaacGgccgctgcgtgcgcgtcccc	13	18	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:41133678G>A	uc002ooh.1	+	33	4636	c.4636G>A	c.(4636-4638)GGC>AGC	p.G1546S	LTBP4_uc002oog.1_Missense_Mutation_p.G1509S|LTBP4_uc002ooi.1_Missense_Mutation_p.G1479S|LTBP4_uc002ooj.1_Missense_Mutation_p.G419S|LTBP4_uc002ook.1_Missense_Mutation_p.G680S|LTBP4_uc002ool.1_Missense_Mutation_p.G558S|LTBP4_uc010xvp.1_Missense_Mutation_p.G306S	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1546	EGF-like 15.			G -> D (in Ref. 1; CAA73944).	growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGCACCAACGGCCGCTGCGT	0.682													A	41133678	G	A	41133678	3	1	131	1	0	0	0	0	1	0	0	0	9076	1116	39	1	5054	1	LTBP4	19	41133678	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	17131	41133678	17995305	1919	78094											
NUMBL	9253	broad.mit.edu	37	chr19	41188655	41188655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggttttgtcgtccaccactCggagcccatcggctgacacc	10	15	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:41188655C>T	uc002oon.2	-	5	545	c.377G>A	c.(376-378)CGA>CAA	p.R126Q	NUMBL_uc010xvq.1_Missense_Mutation_p.R85Q|NUMBL_uc002ooo.2_Missense_Mutation_p.R126Q|NUMBL_uc010xvr.1_Missense_Mutation_p.R85Q	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	126	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			lung(3)|ovary(1)|breast(1)	5			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			GTCCACCACTCGGAGCCCATC	0.652													T	41188655	C	T	41188655	3	4	131	1	0	0	0	0	1	0	0	0	10752	884	31	1	1476	1	NUMBL	19	41188655	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	54977	41188655	17940328	1920	78095											
ADCK4	79934	broad.mit.edu	37	chr19	41211331	41211331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctccgacaggaaggggctgGagtccagcccagaaccaccc	12	16	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:41211331G>A	uc002oor.2	-	6	691	c.389C>T	c.(388-390)TCC>TTC	p.S130F	ADCK4_uc002ooq.1_Intron|ADCK4_uc002oos.2_Missense_Mutation_p.S130F	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4 isoform a	130						integral to membrane	protein serine/threonine kinase activity				0			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GAAGGGGCTGGAGTCCAGCCC	0.468													A	41211331	G	A	41211331	3	1	131	1	0	0	0	0	1	0	0	0	290	1174	41	4	1285	4	ADCK4	19	41211331	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	22676	41211331	17917652	1921	78096											
AXL	558	broad.mit.edu	37	chr19	41758814	41758814	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtcatcttacctttcaTgaaacatggagacctacaca	7	10	3	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:41758814T>C	uc010ehj.2	+	16	2058	c.1868T>C	c.(1867-1869)ATG>ACG	p.M623T	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehk.2_Missense_Mutation_p.M614T	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	623	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						TTACCTTTCATGAAACATGGA	0.493													C	41758814	T	C	41758814	3	2	131	1	0	0	0	0	1	0	0	0	1238	1464	51	3	1930	3	AXL	19	41758814	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	547483	41758814	17370169	1922	78097											
CCDC97	90324	broad.mit.edu	37	chr19	41826288	41826288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaggcctgggttcccgactCggaggagaggctgatcctgc	17	11	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:41826288C>T	uc002oqg.2	+	4	946	c.824C>T	c.(823-825)TCG>TTG	p.S275L	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	275											0						GTTCCCGACTCGGAGGAGAGG	0.632													T	41826288	C	T	41826288	3	4	131	1	0	0	0	0	1	0	0	0	2875	893	31	1	838	1	CCDC97	19	41826288	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	67474	41826288	17302695	1923	78098											
CEACAM5	1048	broad.mit.edu	37	chr19	42219022	42219022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtaaacaatcagagcctccCggtcagtcccaggctgcagc	11	14	2	1	rs113097830	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:42219022C>T	uc002ork.2	+	3	678	c.557C>T	c.(556-558)CCG>CTG	p.P186L	CEACAM5_uc010ehz.1_Missense_Mutation_p.P186L|CEACAM5_uc002orj.1_Missense_Mutation_p.P186L|CEACAM5_uc002orl.2_Missense_Mutation_p.P186L	NM_004363	NP_004354	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion	186	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				skin(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CAGAGCCTCCCGGTCAGTCCC	0.522													T	42219022	C	T	42219022	3	4	131	1	0	0	0	0	1	0	0	0	3195	652	23	1	567	1	CEACAM5	19	42219022	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	392734	42219022	16909961	1924	78099											
DMRTC2	63946	broad.mit.edu	37	chr19	42354689	42354689	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtggggctgaaagattcAtcccaggctcctcgtgtgac	12	12	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:42354689A>G	uc002ors.2	+	8	995	c.912A>G	c.(910-912)TCA>TCG	p.S304S	DMRTC2_uc002orr.1_Silent_p.S232S|DMRTC2_uc010xwe.1_Silent_p.S355S	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	304	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0						TGAAAGATTCATCCCAGGCTC	0.642													G	42354689	A	G	42354689	2	3	131	1	0	0	0	0	0	0	0	1	4591	204	8	3		3	DMRTC2	19	42354689	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	135667	42354689	16774294	1925	78100											
ARHGEF1	9138	broad.mit.edu	37	chr19	42398554	42398554	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accggcggtcggacgagcctGccaagaccaagaaggggctg	16	12	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:42398554G>T	uc002orx.2	+	10	884	c.775G>T	c.(775-777)GCC>TCC	p.A259S	ARHGEF1_uc002orw.1_Missense_Mutation_p.A259S|ARHGEF1_uc002ory.2_Missense_Mutation_p.A226S|ARHGEF1_uc002orz.2_Missense_Mutation_p.A97S|ARHGEF1_uc002osa.2_Missense_Mutation_p.A274S|ARHGEF1_uc002osb.2_Missense_Mutation_p.A241S|ARHGEF1_uc002osc.2_5'Flank|ARHGEF1_uc002osd.2_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	259				EPA -> DPP (in Ref. 1; AAB17896).	cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GGACGAGCCTGCCAAGACCAA	0.627													T	42398554	G	T	42398554	3	4	131	1	0	0	0	0	1	0	0	0	893	1319	46	5	858	5	ARHGEF1	19	42398554	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	43865	42398554	16730429	1926	78101											
DEDD2	162989	broad.mit.edu	37	chr19	42703893	42703893	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaacacgtccagctgccgCgccagcgcctggggccgccg	13	19	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:42703893C>T	uc002osu.1	-	5	746	c.678G>A	c.(676-678)GCG>GCA	p.A226A	DEDD2_uc002osv.1_RNA|DEDD2_uc002osw.1_Silent_p.A221A|DEDD2_uc002osx.1_3'UTR|DEDD2_uc002osy.1_Silent_p.A226A	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN	death effector domain-containing  DNA binding	226					activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity				0		Prostate(69;0.0704)				CCAGCTGCCGCGCCAGCGCCT	0.657													T	42703893	C	T	42703893	2	4	131	1	0	0	0	0	0	0	0	1	4385	755	27	1		1	DEDD2	19	42703893	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	305339	42703893	16425090	1927	78102											
ZNF526	116115	broad.mit.edu	37	chr19	42729656	42729656	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtgtagactgtggccgCggctttggcacagaactcac	12	12	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:42729656C>T	uc002osz.1	+	3	1257	c.1101C>T	c.(1099-1101)CGC>CGT	p.R367R		NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	zinc finger protein 526	367	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0704)				ACTGTGGCCGCGGCTTTGGCA	0.597													T	42729656	C	T	42729656	2	4	131	1	0	0	0	0	0	0	0	1	17964	755	27	1		1	ZNF526	19	42729656	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	25763	42729656	16399327	1928	78103											
CIC	23152	broad.mit.edu	37	chr19	42794441	42794441	+	Frame_Shift_Del	DEL	C	C	-													tcctcctttacccactgccgCcccccactggaccctgagcc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:42794441delC	uc002otf.1	+	10	1561	c.1521delC	c.(1519-1521)CGCfs	p.R507fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CCCACTGCCGCCCCCCACTGG	0.622			T	DUX4	soft tissue sarcoma								-	42794441	C	-	42794441	7	5	131	1	0	1	0	1	0	0	0	0	3424	726	26	0	1559	0	CIC	19	42794441	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	64785	42794441	16334542	1929	78104											
LIPE	3991	broad.mit.edu	37	chr19	42911849	42911849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagatggtgaccgtgagcGtggggtcggcagtcagtggc	20	7	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:42911849G>A	uc002otr.2	-	5	2028	c.1751C>T	c.(1750-1752)ACG>ATG	p.T584M	uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	584					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				GACCGTGAGCGTGGGGTCGGC	0.642													A	42911849	G	A	42911849	3	1	131	1	0	0	0	0	1	0	0	0	8821	1145	40	1	1503	1	LIPE	19	42911849	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	117408	42911849	16217134	1930	78105											
CEACAM8	1088	broad.mit.edu	37	chr19	43093151	43093151	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatttacccctgcatggtaaTaggtgtctgaaggggaaatg	13	6	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:43093151T>A	uc002oud.2	-	4	845	c.743A>T	c.(742-744)TAT>TTT	p.Y248F	uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion	248	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				ovary(1)	1		Prostate(69;0.00899)				TGCATGGTAATAGGTGTCTGA	0.502													A	43093151	T	A	43093151	3	1	131	1	0	0	0	0	1	0	0	0	3198	1406	49	5	314	5	CEACAM8	19	43093151	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	181302	43093151	16035832	1931	78106											
IRGC	56269	broad.mit.edu	37	chr19	44223371	44223371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtccaacctctcgccgGcccgctacgactttcccacg	9	18	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:44223371G>A	uc002oxh.2	+	2	808	c.661G>A	c.(661-663)GCC>ACC	p.A221T		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	221						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.0435)				CCTCTCGCCGGCCCGCTACGA	0.701													A	44223371	G	A	44223371	3	1	131	1	0	0	0	0	1	0	0	0	7838	1203	42	2	663	2	IRGC	19	44223371	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1130220	44223371	14905612	1932	78107											
CLPTM1	1209	broad.mit.edu	37	chr19	45477826	45477826	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaactcagacggctgctacgAgcactttgctgagctcgata	11	11	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:45477826A>G	uc002pai.2	+	4	455	c.440A>G	c.(439-441)GAG>GGG	p.E147G	CLPTM1_uc010ejv.1_Missense_Mutation_p.E45G|CLPTM1_uc010xxf.1_Missense_Mutation_p.E45G|CLPTM1_uc010xxg.1_Missense_Mutation_p.E133G	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	147	Extracellular (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GGCTGCTACGAGCACTTTGCT	0.577													G	45477826	A	G	45477826	3	3	131	1	0	0	0	0	1	0	0	0	3554	304	11	3	454	3	CLPTM1	19	45477826	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1254455	45477826	13651157	1933	78108											
PPP1R13L	10848	broad.mit.edu	37	chr19	45900258	45900259	+	Frame_Shift_Ins	INS	-	-	G													gccgtcggtggccgccttccINSggggggaccctcggctgccg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:45900258_45900259insG	uc002pbn.2	-	4	333_334	c.256_257insC	c.(256-258)CGGfs	p.R86fs	PPP1R13L_uc002pbo.2_Frame_Shift_Ins_p.R86fs|PPP1R13L_uc002pbp.2_Frame_Shift_Ins_p.R86fs	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	86	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGCCGCCTTCCGGGGGGACCCT	0.688													G	45900259	-	G	45900258	7	5	131	1	0	1	1	0	0	0	0	0	12358	652	23	0	2269	0	PPP1R13L	19	45900258	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	422432	45900258	13228725	1934	78109											
PPP5C	5536	broad.mit.edu	37	chr19	46887054	46887054	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagacagagaagattacagtAtgtggggacacccatggcca	12	9	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:46887054A>G	uc002pem.2	+	6	777	c.717A>G	c.(715-717)GTA>GTG	p.V239V	PPP5C_uc010xya.1_Silent_p.V106V|PPP5C_uc002pen.2_Silent_p.V217V|PPP5C_uc010xyb.1_Silent_p.V97V	NM_006247	NP_006238	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	239	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			lung(1)|pancreas(1)	2		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		AGATTACAGTATGTGGGGACA	0.552													G	46887054	A	G	46887054	2	3	131	1	0	0	0	0	0	0	0	1	12406	436	16	3		3	PPP5C	19	46887054	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	986796	46887054	12241929	1935	78110											
ZC3H4	23211	broad.mit.edu	37	chr19	47569825	47569825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctcggggggtggggtggCggtggtggcagcgggggctg	25	8	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:47569825C>T	uc002pga.3	-	15	3738	c.3700G>A	c.(3700-3702)GCC>ACC	p.A1234T	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1234							nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGTGGGGTGGCGGTGGTGGCA	0.716													T	47569825	C	T	47569825	3	4	131	1	0	0	0	0	1	0	0	0	17567	768	27	1	215	1	ZC3H4	19	47569825	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	682771	47569825	11559158	1936	78111											
SLC8A2	6543	broad.mit.edu	37	chr19	47969508	47969508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacgggcagcagcaccccCggctggcagcggtaggaccc	14	17	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:47969508C>T	uc002pgx.2	-	2	431	c.153G>A	c.(151-153)CCG>CCA	p.P51P	SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Silent_p.P51P	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	51	Extracellular (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GCAGCACCCCCGGCTGGCAGC	0.701													T	47969508	C	T	47969508	2	4	131	1	0	0	0	0	0	0	0	1	14707	639	23	1		1	SLC8A2	19	47969508	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	399683	47969508	11159475	1937	78112											
EHD2	30846	broad.mit.edu	37	chr19	48220237	48220237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacccggacaagcccttccGcaaactcaaccctttcggaa	8	16	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:48220237G>A	uc002phj.3	+	2	618	c.368G>A	c.(367-369)CGC>CAC	p.R123H	EHD2_uc010xyu.1_Intron	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	123					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		AAGCCCTTCCGCAAACTCAAC	0.537													A	48220237	G	A	48220237	3	1	131	1	0	0	0	0	1	0	0	0	4978	1087	38	1	370	1	EHD2	19	48220237	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	250729	48220237	10908746	1938	78113											
CCDC114	93233	broad.mit.edu	37	chr19	48806955	48806955	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggtcactctcccccatcaGctgggacagtttattcaggg	11	12	4	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:48806955G>T	uc002pir.2	-	8	1512	c.829C>A	c.(829-831)CTG>ATG	p.L277M	CCDC114_uc002piq.2_Missense_Mutation_p.L86M|CCDC114_uc002pio.2_Missense_Mutation_p.L314M|CCDC114_uc002pis.1_5'Flank|CCDC114_uc002pit.1_Missense_Mutation_p.L314M|CCDC114_uc002piu.1_Missense_Mutation_p.L314M	NM_144577	NP_653178	Q96M63	CC114_HUMAN	coiled-coil domain containing 114 isoform 2	277										ovary(1)	1		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TCCCCCATCAGCTGGGACAGT	0.652													T	48806955	G	T	48806955	3	4	131	1	0	0	0	0	1	0	0	0	2751	962	34	5	1211	5	CCDC114	19	48806955	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	586718	48806955	10322028	1939	78114											
GRIN2D	2906	broad.mit.edu	37	chr19	48946554	48946554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggagagcctgggcggcgCgtcgctgggcggcctggagc	20	13	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:48946554C>T	uc002pjc.3	+	13	3459	c.3371C>T	c.(3370-3372)GCG>GTG	p.A1124V	GRIN2D_uc010elx.2_Missense_Mutation_p.A359V|GRWD1_uc002pjd.2_5'Flank	NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	1124	Cytoplasmic (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CTGGGCGGCGCGTCGCTGGGC	0.592													T	48946554	C	T	48946554	3	4	131	1	0	0	0	0	1	0	0	0	6782	768	27	1	3417	1	GRIN2D	19	48946554	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	139599	48946554	10182429	1940	78115											
GRWD1	83743	broad.mit.edu	37	chr19	48954443	48954443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcccttcctgctcagtggCggggatgatggggccctcaa	15	12	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:48954443C>T	uc002pjd.2	+	6	1211	c.978C>T	c.(976-978)GGC>GGT	p.G326G		NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	326	WD 3.					nucleolus				ovary(1)	1		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		TGCTCAGTGGCGGGGATGATG	0.637													T	48954443	C	T	48954443	2	4	131	1	0	0	0	0	0	0	0	1	6811	755	27	1		1	GRWD1	19	48954443	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	7889	48954443	10174540	1941	78116											
CYTH2	9266	broad.mit.edu	37	chr19	48981555	48981555	+	Frame_Shift_Del	DEL	C	C	-													aaggagccccgaggaatcatCcccctggagaatctgagcat							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:48981555delC	uc002pjj.3	+	11	1212	c.912delC	c.(910-912)ATCfs	p.I304fs	CYTH2_uc002pji.2_RNA	NM_017457	NP_059431	Q99418	CYH2_HUMAN	cytohesin 2 isoform 1	304	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						GAGGAATCATCCCCCTGGAGA	0.448													-	48981555	C	-	48981555	7	5	131	1	0	1	0	1	0	0	0	0	4204	845	30	0	950	0	CYTH2	19	48981555	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	27112	48981555	10147428	1942	78117											
FAM83E	54854	broad.mit.edu	37	chr19	49104392	49104392	+	Frame_Shift_Del	DEL	G	G	-													ttgccccccaagtcctgcccGgggggcccagtctgacggcc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:49104391_49104391CG>C	uc002pjn.2	-	4	1477	c.1412_1412CG>G	c.(1411-1413)cggfs	p.R471fs		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	471										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		AAGTCCTGCCCGGGGGGCCCA	0.652													-	49104392	G	-	49104392	7	5	131	1	0	1	0	1	0	0	0	0	5637	1115	39	0	29	0	FAM83E	19	49104392	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	122837	49104392	10024591	1943	78118											
SPHK2	56848	broad.mit.edu	37	chr19	49131530	49131530	+	Frame_Shift_Del	DEL	G	G	-													ccggagcagtgaaccagcacGgggggtaggttgaggatacc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:49131530delG	uc002pjr.2	+	6	1234	c.868delG	c.(868-870)GGGfs	p.G290fs	SPHK2_uc010xzt.1_Frame_Shift_Del_p.G231fs|SPHK2_uc002pjs.2_Frame_Shift_Del_p.G290fs|SPHK2_uc002pjt.2_Frame_Shift_Del_p.G84fs|SPHK2_uc002pju.2_Frame_Shift_Del_p.G254fs|SPHK2_uc002pjv.2_Frame_Shift_Del_p.G254fs|SPHK2_uc002pjw.2_Frame_Shift_Del_p.G352fs|SPHK2_uc010xzu.1_Frame_Shift_Del_p.G254fs	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	290	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			lung(1)	1		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GAACCAGCACGGGGGGTAGGT	0.622													-	49131530	G	-	49131530	7	5	131	1	0	1	0	1	0	0	0	0	15046	1116	39	0	886	0	SPHK2	19	49131530	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	27138	49131530	9997453	1944	78119											
FUT2	2524	broad.mit.edu	37	chr19	49206867	49206867	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggaagggggtggtggcCgaccggcgatacctacagca	18	9	0	0	rs138643842		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:49206867C>T	uc002pke.3	+	2	765	c.654C>T	c.(652-654)GCC>GCT	p.A218A	FUT2_uc010emc.2_Silent_p.A218A	NM_001097638	NP_001091107	Q10981	FUT2_HUMAN	fucosyltransferase 2	218	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			central_nervous_system(1)	1		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GGGTGGTGGCCGACCGGCGAT	0.617													T	49206867	C	T	49206867	2	4	131	1	0	0	0	0	0	0	0	1	6104	639	23	1		1	FUT2	19	49206867	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	75337	49206867	9922116	1945	78120											
IZUMO1	284359	broad.mit.edu	37	chr19	49247735	49247735	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttggaatcgagcaacataGgtggcaaaggtttccttttg	11	6	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:49247735G>T	uc002pkj.2	-	4	920	c.372C>A	c.(370-372)ACC>ACA	p.T124T	IZUMO1_uc010eme.2_RNA|IZUMO1_uc010emf.2_RNA	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1 precursor	124	Extracellular (Potential).				fusion of sperm to egg plasma membrane	integral to membrane				ovary(1)	1		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GAGCAACATAGGTGGCAAAGG	0.517													T	49247735	G	T	49247735	2	4	131	1	0	0	0	0	0	0	0	1	7933	987	35	5		5	IZUMO1	19	49247735	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	40868	49247735	9881248	1946	78121											
FUT1	2523	broad.mit.edu	37	chr19	49254455	49254455	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtggaaagctgtcttgAtggatatggaggaagaagat	14	4	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:49254455A>G	uc002pkk.2	-	4	1059	c.84T>C	c.(82-84)CAT>CAC	p.H28H		NM_000148	NP_000139	P19526	FUT1_HUMAN	fucosyltransferase 1	28	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			ovary(1)	1		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGCTGTCTTGATGGATATGGA	0.592													G	49254455	A	G	49254455	2	3	131	1	0	0	0	0	0	0	0	1	6101	330	12	3		3	FUT1	19	49254455	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	6720	49254455	9874528	1947	78122											
CGB5	93659	broad.mit.edu	37	chr19	49548486	49548486	+	Frame_Shift_Del	DEL	C	C	-													cctcttcctcaaaggcccctCcccccagccttccaagtcca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:49548486delC	uc002ply.2	+	3	798	c.433delC	c.(433-435)CCCfs	p.P145fs	CGB_uc010yad.1_Intron|CGB5_uc002plz.2_Frame_Shift_Del_p.P131fs	NM_033043	NP_149032	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 5	145					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity				0		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	AAAGGCCCCTCCCCCCAGCCT	0.632													-	49548486	C	-	49548486	7	5	131	1	0	1	0	1	0	0	0	0	3299	855	30	0	443	0	CGB5	19	49548486	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	294031	49548486	9580497	1948	78123											
PPFIA3	8541	broad.mit.edu	37	chr19	49637338	49637338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccacaataagcggctgtcCgagacggtggacaagctgct	13	11	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:49637338C>T	uc002pmr.2	+	11	1625	c.1293C>T	c.(1291-1293)TCC>TCT	p.S431S	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Silent_p.S355S|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Silent_p.S299S	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	431	Potential.					cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		AGCGGCTGTCCGAGACGGTGG	0.637													T	49637338	C	T	49637338	2	4	131	1	0	0	0	0	0	0	0	1	12311	639	23	1		1	PPFIA3	19	49637338	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	88852	49637338	9491645	1949	78124											
HRC	3270	broad.mit.edu	37	chr19	49656860	49656860	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctctcctcgtcttcttcCtcctcctcctcctccttgtc	2	22	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:49656860C>T	uc002pmv.2	-	1	1822	c.1635G>A	c.(1633-1635)GAG>GAA	p.E545E		NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	545					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		cgtcttcttcctcctcctcct	0.333													T	49656860	C	T	49656860	2	4	131	1	0	0	0	0	0	0	0	1	7352	680	24	4		4	HRC	19	49656860	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	19522	49656860	9472123	1950	78125											
SLC17A7	57030	broad.mit.edu	37	chr19	49933806	49933806	+	Frame_Shift_Del	DEL	G	G	-													cggacagggggtgggggcctGgggggctgaaatgtgctgtg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:49933806delG	uc002pnp.2	-	12	1825	c.1653delC	c.(1651-1653)CCCfs	p.P551fs	SLC17A7_uc002pno.2_Frame_Shift_Del_p.P213fs	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	551	Cytoplasmic (Potential).|Pro-rich.				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			ovary(1)|pancreas(1)|skin(1)	3		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GTGGGGGCCTGGGGGGCTGAA	0.642													-	49933806	G	-	49933806	7	5	131	1	0	1	0	1	0	0	0	0	14422	1335	47	0	33	0	SLC17A7	19	49933806	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	276946	49933806	9195177	1951	78126											
PRR12	57479	broad.mit.edu	37	chr19	50128756	50128756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccgaggacctgggccaGgaggaggtggtccagcagtg	20	10	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:50128756G>A	uc002poo.3	+	14	6003	c.6003G>A	c.(6001-6003)CAG>CAA	p.Q2001Q		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	1180							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ACCTGGGCCAGGAGGAGGTGG	0.677													A	50128756	G	A	50128756	2	1	131	1	0	0	0	0	0	0	0	1	12584	991	35	4		4	PRR12	19	50128756	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	194950	50128756	9000227	1952	78127											
SCAF1	58506	broad.mit.edu	37	chr19	50155638	50155638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcgagaaggccccggcGcccgccccgccgccctctgg	15	20	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:50155638G>A	uc002poq.2	+	7	2116	c.1992G>A	c.(1990-1992)GCG>GCA	p.A664A		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	664	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		Aggccccggcgcccgccccgc	0.607													A	50155638	G	A	50155638	2	1	131	1	0	0	0	0	0	0	0	1	13868	1074	38	1		1	SCAF1	19	50155638	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	26882	50155638	8973345	1953	78128											
SCAF1	58506	broad.mit.edu	37	chr19	50155754	50155754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacctcttcgccatcaagcGgaccatcacggtgggccggc	12	16	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:50155754G>A	uc002poq.2	+	7	2232	c.2108G>A	c.(2107-2109)CGG>CAG	p.R703Q		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	703	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GCCATCAAGCGGACCATCACG	0.687													A	50155754	G	A	50155754	3	1	131	1	0	0	0	0	1	0	0	0	13868	1116	39	1	2130	1	SCAF1	19	50155754	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	116	50155754	8973229	1954	78129											
C19orf41	126123	broad.mit.edu	37	chr19	50666366	50666366	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgacccagggcctccAgcaccaaggggtcgcactgc	14	15	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:50666366A>G	uc002prp.1	-	1	173	c.86T>C	c.(85-87)CTG>CCG	p.L29P		NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN	hypothetical protein LOC126123 precursor	29	Extracellular (Potential).					integral to membrane					0		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)		CAGGGCCTCCAGCACCAAGGG	0.711													G	50666366	A	G	50666366	3	3	131	1	0	0	0	0	1	0	0	0	1924	188	7	3	607	3	C19orf41	19	50666366	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	510612	50666366	8462617	1955	78130											
MYH14	79784	broad.mit.edu	37	chr19	50735200	50735200	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgcagccgacctcctcctCgagccctgctcccactaccg	7	22	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:50735200C>T	uc002prr.1	+	9	1010	c.963C>T	c.(961-963)CTC>CTT	p.L321L	MYH14_uc010enu.1_Silent_p.L329L|MYH14_uc002prq.1_Silent_p.L329L	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	321	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		ACCTCCTCCTCGAGCCCTGCT	0.627													T	50735200	C	T	50735200	2	4	131	1	0	0	0	0	0	0	0	1	10033	871	31	1		1	MYH14	19	50735200	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	68834	50735200	8393783	1956	78131											
KCNC3	3748	broad.mit.edu	37	chr19	50826646	50826646	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacccccgccagggcacacaGcgccccgaccagcatccccg	9	23	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:50826646G>T	uc002pru.1	-	2	1859	c.1564C>A	c.(1564-1566)CTG>ATG	p.L522M	KCNC3_uc002prt.1_Missense_Mutation_p.L158M	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Shaw-related voltage-gated potassium channel	522	Helical; Name=Segment S6; (Potential).				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		AGGGCACACAGCGCCCCGACC	0.602													T	50826646	G	T	50826646	3	4	131	1	0	0	0	0	1	0	0	0	8016	962	34	5	721	5	KCNC3	19	50826646	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	91446	50826646	8302337	1957	78132											
MYBPC2	4606	broad.mit.edu	37	chr19	50939882	50939882	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctggacccaggtgtacacCgtggagctgcacattgggaa	13	12	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:50939882C>A	uc002psf.2	+	5	405	c.354C>A	c.(352-354)ACC>ACA	p.T118T		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	118	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGGTGTACACCGTGGAGCTGC	0.597													A	50939882	C	A	50939882	2	1	131	1	0	0	0	0	0	0	0	1	10012	639	23	5		5	MYBPC2	19	50939882	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	113236	50939882	8189101	1958	78133											
SHANK1	50944	broad.mit.edu	37	chr19	51217127	51217127	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccatcccgggcccggaagtcAatgtgggccccgcccaggca	13	17	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:51217127A>T	uc002psx.1	-	5	739	c.720T>A	c.(718-720)ATT>ATA	p.I240I		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	240	ANK 1.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCCGGAAGTCAATGTGGGCCC	0.667													T	51217127	A	T	51217127	2	4	131	1	0	0	0	0	0	0	0	1	14264	126	5	5		5	SHANK1	19	51217127	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	277245	51217127	7911856	1959	78134											
KLK10	5655	broad.mit.edu	37	chr19	51520463	51520463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagagcgagacctgccaggGctgcgagccgcgcgcgcacg	17	14	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:51520463G>A	uc002puy.2	-	3	253	c.172C>T	c.(172-174)CCC>TCC	p.P58S	KLK10_uc002puz.2_Missense_Mutation_p.P58S|KLK10_uc002pva.2_Missense_Mutation_p.P58S	NM_145888	NP_665895	O43240	KLK10_HUMAN	kallikrein-related peptidase 10 preproprotein	58	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			lung(2)	2		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		ACCTGCCAGGGCTGCGAGCCG	0.672											OREG0025646	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	51520463	G	A	51520463	3	1	131	1	0	0	0	0	1	0	0	0	8398	1203	42	2	674	2	KLK10	19	51520463	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	303336	51520463	7608520	1960	78135											
ZNF836	162962	broad.mit.edu	37	chr19	52658574	52658574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctagtgttgattgatgacGaaagaccttgccacattcat	9	8	1	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:52658574G>A	uc010ydi.1	-	5	2736	c.2362C>T	c.(2362-2364)CGT>TGT	p.R788C	ZNF836_uc010ydj.1_Missense_Mutation_p.R788C	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	788	C2H2-type 21.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GATTGATGACGAAAGACCTTG	0.433													A	52658574	G	A	52658574	3	1	131	1	0	0	0	0	1	0	0	0	18184	1058	37	1	450	1	ZNF836	19	52658574	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1138111	52658574	6470409	1961	78136											
PPP2R1A	5518	broad.mit.edu	37	chr19	52723442	52723442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccttggtttctcctgtagGgagtggagttctttgatgag	13	7	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:52723442G>A	uc002pyp.2	+	11	1462	c.1303G>A	c.(1303-1305)GGA>AGA	p.G435R	PPP2R1A_uc010ydk.1_Missense_Mutation_p.G380R|PPP2R1A_uc002pyq.2_Missense_Mutation_p.G256R	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	435	HEAT 11.|PP2A subunit C binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TCTCCTGTAGGGAGTGGAGTT	0.522			Mis		clear cell ovarian carcinoma								A	52723442	G	A	52723442	3	1	131	1	0	0	0	0	1	0	0	0	12382	1246	43	4	1345	4	PPP2R1A	19	52723442	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	64868	52723442	6405541	1962	78137											
ZNF480	147657	broad.mit.edu	37	chr19	52817449	52817449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccatagaattctctcaggCggagtggaaatgcctggacc	13	10	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:52817449C>T	uc010ydl.1	+	3	186	c.116C>T	c.(115-117)GCG>GTG	p.A39V	ZNF480_uc002pyv.2_Intron|ZNF480_uc010ydm.1_Missense_Mutation_p.A39V|ZNF480_uc010epn.2_Intron|uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TTCTCTCAGGCGGAGTGGAAA	0.473													T	52817449	C	T	52817449	3	4	131	1	0	0	0	0	1	0	0	0	17932	768	27	1	122	1	ZNF480	19	52817449	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	94007	52817449	6311534	1963	78138											
ZNF816A	125893	broad.mit.edu	37	chr19	53453156	53453156	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaggctttgccacactcAttacacttgtaaggtttctc	7	10	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:53453156A>G	uc002qal.1	-	5	2173	c.1872T>C	c.(1870-1872)AAT>AAC	p.N624N	ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Silent_p.N608N	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN	zinc finger protein 816A	624	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0313)		TGCCACACTCATTACACTTGT	0.383													G	53453156	A	G	53453156	2	3	131	1	0	0	0	0	0	0	0	1	18174	214	8	3		3	ZNF816A	19	53453156	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	635707	53453156	5675827	1964	78139											
NLRP12	91662	broad.mit.edu	37	chr19	54301519	54301519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtttctggagtctgcaggCgggatgttgcagcccctcag	14	11	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:54301519C>T	uc002qch.3	-	8	3125	c.2905G>A	c.(2905-2907)GCC>ACC	p.A969T	NLRP12_uc010eqw.2_Intron|NLRP12_uc002qci.3_Intron|NLRP12_uc002qcj.3_Missense_Mutation_p.A970T|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	969					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGTCTGCAGGCGGGATGTTGC	0.587													T	54301519	C	T	54301519	3	4	131	1	0	0	0	0	1	0	0	0	10474	768	27	1	292	1	NLRP12	19	54301519	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	848363	54301519	4827464	1965	78140											
LILRA6	79168	broad.mit.edu	37	chr19	54742958	54742958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccactgtgtaatccttggcGtgtgaggctggggatggtgg	17	7	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:54742958G>A	uc002qeu.1	-	8	1441	c.1317C>T	c.(1315-1317)CAC>CAT	p.H439H	LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Silent_p.H283H	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor,	439	Extracellular (Potential).					integral to membrane	receptor activity			skin(2)	2	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AATCCTTGGCGTGTGAGGCTG	0.597													A	54742958	G	A	54742958	2	1	131	1	0	0	0	0	0	0	0	1	8789	1136	40	1		1	LILRA6	19	54742958	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	441439	54742958	4386025	1966	78141											
LILRA3	11026	broad.mit.edu	37	chr19	54803262	54803262	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acactggatggtcacattccCtcctgaggtcaccacagggc	10	14	2	1	rs150090129	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:54803262C>A	uc002qfd.2	-	4	480	c.415G>T	c.(415-417)GGG>TGG	p.G139W	LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Missense_Mutation_p.G139W	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor,	139	Ig-like C2-type 2.				defense response	extracellular region|plasma membrane	antigen binding|receptor activity			ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTCACATTCCCTCCTGAGGTC	0.542													A	54803262	C	A	54803262	3	1	131	1	0	0	0	0	1	0	0	0	8786	681	24	5	920	5	LILRA3	19	54803262	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	60304	54803262	4325721	1967	78142											
LILRA1	11024	broad.mit.edu	37	chr19	55106616	55106616	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acccagccctgtggtgacctCaggagggaacgtgaccctcc	12	15	1	2	rs138781448	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:55106616C>T	uc002qgh.1	+	5	592	c.410C>T	c.(409-411)TCA>TTA	p.S137L	LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.S137L	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	137	Ig-like C2-type 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		GTGGTGACCTCAGGAGGGAAC	0.532													T	55106616	C	T	55106616	3	4	131	1	0	0	0	0	1	0	0	0	8784	838	29	4	424	4	LILRA1	19	55106616	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	303354	55106616	4022367	1968	78143											
NLRP2	55655	broad.mit.edu	37	chr19	55481624	55481624	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtctttgaaaagatgcacCgaatggatctgtctgagaga	12	6	3	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:55481624C>T	uc002qij.2	+	2	327	c.241C>T	c.(241-243)CGA>TGA	p.R81*	NLRP2_uc010yfp.1_Nonsense_Mutation_p.R58*|NLRP2_uc010esn.2_Nonsense_Mutation_p.R81*|NLRP2_uc010eso.2_Nonsense_Mutation_p.R81*|NLRP2_uc010esp.2_Nonsense_Mutation_p.R81*	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	81	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AAAGATGCACCGAATGGATCT	0.522													T	55481624	C	T	55481624	4	4	131	1	0	0	0	0	0	1	0	0	10477	644	23	1	243	1	NLRP2	19	55481624	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	375008	55481624	3647359	1969	78144											
PTPRH	5794	broad.mit.edu	37	chr19	55693262	55693262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcactgatgcaggaataCgtactgagcctgggaagcag	14	8	0	2	rs140496718		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:55693262C>T	uc002qjq.2	-	20	3281	c.3208G>A	c.(3208-3210)GTA>ATA	p.V1070I	PTPRH_uc010esv.2_Missense_Mutation_p.V892I|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1070	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGCAGGAATACGTACTGAGCC	0.622													T	55693262	C	T	55693262	3	4	131	1	0	0	0	0	1	0	0	0	12803	536	19	1	143	1	PTPRH	19	55693262	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	211638	55693262	3435721	1970	78145											
PTPRH	5794	broad.mit.edu	37	chr19	55696967	55696967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtctggggaggagggaaCgccgtgatccggccaggcct	19	10	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:55696967C>T	uc002qjq.2	-	18	3038	c.2965G>A	c.(2965-2967)GTT>ATT	p.V989I	PTPRH_uc010esv.2_Missense_Mutation_p.V811I	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	989	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GAGGAGGGAACGCCGTGATCC	0.607													T	55696967	C	T	55696967	3	4	131	1	0	0	0	0	1	0	0	0	12803	536	19	1	394	1	PTPRH	19	55696967	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3705	55696967	3432016	1971	78146											
TMEM86B	255043	broad.mit.edu	37	chr19	55739642	55739642	+	Frame_Shift_Del	DEL	C	C	-													cctggaggagctgggtgtagCccccgcttggggacatgacc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:55739642delC	uc002qju.2	-	2	738	c.215delG	c.(214-216)GGCfs	p.G72fs	TMEM86B_uc002qjt.2_Frame_Shift_Del_p.G71fs	NM_173804	NP_776165	Q8N661	TM86B_HUMAN	transmembrane protein 86B	72					ether lipid metabolic process	cytoplasmic part|integral to membrane	alkenylglycerophosphocholine hydrolase activity|alkenylglycerophosphoethanolamine hydrolase activity				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		CTGGGTGTAGCCCCCGCTTGG	0.662													-	55739642	C	-	55739642	7	5	131	1	0	1	0	1	0	0	0	0	16206	739	26	0	473	0	TMEM86B	19	55739642	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	42675	55739642	3389341	1972	78147											
FIZ1	84922	broad.mit.edu	37	chr19	56104134	56104134	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttccctttcccgggcggcGgtcgccgcctcctccccgcc	12	21	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:56104134G>A	uc002qli.3	-	3	1263	c.1173C>T	c.(1171-1173)ACC>ACT	p.T391T	FIZ1_uc002qlj.3_Silent_p.T391T	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CCCGGGCGGCGGTCGCCGCCT	0.741													A	56104134	G	A	56104134	2	1	131	1	0	0	0	0	0	0	0	1	5900	1103	39	1		1	FIZ1	19	56104134	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	364492	56104134	3024849	1973	78148											
U2AF2	11338	broad.mit.edu	37	chr19	56173906	56173907	+	Frame_Shift_Ins	INS	-	-	G													tcaacgcccagatgcgcctgINSggggggctgacccaggcccc					rs149491308		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:56173905_56173906T>TG	uc002qlu.3	+	5	1579_1580	c.524_525T>TG	c.(523-525)ctgfs	p.L175fs	U2AF2_uc002qlt.3_Frame_Shift_Ins_p.L175fs	NM_007279	NP_009210	P26368	U2AF2_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.	175	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CAGATGCGCCTGGGGGGGCTGA	0.604													G	56173907	-	G	56173906	7	5	131	1	0	1	1	0	0	0	0	0	16820	1335	47	0	547	0	U2AF2	19	56173906	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	69772	56173906	2955077	1974	78149											
NLRP4	147945	broad.mit.edu	37	chr19	56390204	56390204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgctgtaaggatctcgCgtctgttctcacctgcagta	9	13	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:56390204C>T	uc002qmd.3	+	9	3163	c.2741C>T	c.(2740-2742)GCG>GTG	p.A914V	NLRP4_uc002qmf.2_Missense_Mutation_p.A839V|NLRP4_uc010etf.2_Missense_Mutation_p.A689V	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	914							ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAGGATCTCGCGTCTGTTCTC	0.542													T	56390204	C	T	56390204	3	4	131	1	0	0	0	0	1	0	0	0	10479	768	27	1	2771	1	NLRP4	19	56390204	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	216298	56390204	2738779	1975	78150											
ZNF444	55311	broad.mit.edu	37	chr19	56671150	56671150	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgagtgcggcaaaacgtcCctgaaaccagctcacctgct	9	16	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:56671150C>A	uc002qmm.2	+	5	931	c.564C>A	c.(562-564)TCC>TCA	p.S188S	ZNF444_uc002qmn.1_Silent_p.S187S	NM_018337	NP_060807	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	188	C2H2-type 1.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		GCAAAACGTCCCTGAAACCAG	0.716													A	56671150	C	A	56671150	2	1	131	1	0	0	0	0	0	0	0	1	17914	610	22	5		5	ZNF444	19	56671150	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	280946	56671150	2457833	1976	78151											
ZNF256	10172	broad.mit.edu	37	chr19	58452730	58452730	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttgctccagtatgaactttCcagtgtgagatgaggtagga	12	7	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:58452730C>A	uc002qqu.2	-	3	1681	c.1446G>T	c.(1444-1446)TGG>TGT	p.W482C	ZNF256_uc010euj.2_Missense_Mutation_p.W329C	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	482	C2H2-type 10.				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TATGAACTTTCCAGTGTGAGA	0.448													A	58452730	C	A	58452730	3	1	131	1	0	0	0	0	1	0	0	0	17796	856	30	5	441	5	ZNF256	19	58452730	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1781580	58452730	676253	1977	78152											
ZNF497	162968	broad.mit.edu	37	chr19	58867745	58867745	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgcggaaggccttgccGcattctgcgcaggcgaaggg	16	13	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:58867745G>A	uc002qsh.1	-	3	1446	c.1257C>T	c.(1255-1257)TGC>TGT	p.C419C	A1BG_uc002qsd.3_5'Flank|A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Silent_p.C419C|uc002qsj.1_5'Flank|uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	419	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		AGGCCTTGCCGCATTCTGCGC	0.711													A	58867745	G	A	58867745	2	1	131	1	0	0	0	0	0	0	0	1	17943	1079	38	1		1	ZNF497	19	58867745	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	415015	58867745	261238	1978	78153											
ZNF324	25799	broad.mit.edu	37	chr19	58982407	58982407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagacactcacagagcatgCgttgctggggaggcagccca	13	11	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr19:58982407C>T	uc002qsw.1	+	4	642	c.548C>T	c.(547-549)GCG>GTG	p.A183V	ZNF324_uc002qsx.1_5'UTR	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ACAGAGCATGCGTTGCTGGGG	0.657													T	58982407	C	T	58982407	3	4	131	1	0	0	0	0	1	0	0	0	17841	768	27	1	558	1	ZNF324	19	58982407	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	114662	58982407	146576	1979	78154											
DEFB125	245938	broad.mit.edu	37	chr20	76799	76799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactcgacgaccagcatttcCtgtgattcacctagaggata	8	11	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:76799C>T	uc002wcw.2	+	2	212	c.212C>T	c.(211-213)CCT>CTT	p.P71L		NM_153325	NP_697020	Q8N687	DB125_HUMAN	defensin, beta 125 preproprotein	71					defense response to bacterium	extracellular region				ovary(1)|central_nervous_system(1)|skin(1)	3		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			CCAGCATTTCCTGTGATTCAC	0.363													T	76799	C	T	76799	3	4	131	1	0	0	0	0	1	0	0	0	4411	681	24	4	218	4	DEFB125	20	76799	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08		76799	62948721	1980	78155											
SIRPB1	10326	broad.mit.edu	37	chr20	1559235	1559235	+	Frame_Shift_Del	DEL	G	G	-													accacatgatgggccccacaGggatcagggacgtcatagca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:1559235delG	uc010gai.2	-	2	281	c.182delC	c.(181-183)CCTfs	p.P61fs	SIRPB1_uc002wfk.3_Frame_Shift_Del_p.P61fs	NM_006065	NP_006056	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1 isoform 1	61	Extracellular (Potential).|Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			ovary(1)	1						GGGCCCCACAGGGATCAGGGA	0.537													-	1559235	G	-	1559235	7	5	131	1	0	1	0	1	0	0	0	0	14333	1000	35	0	1030	0	SIRPB1	20	1559235	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	1482436	1559235	61466285	1981	78156											
TGM6	343641	broad.mit.edu	37	chr20	2384126	2384126	+	Frame_Shift_Del	DEL	C	C	-													ctggcaggttctggatgccaCcccccaggaggagagtgaag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:2384126delC	uc002wfy.1	+	8	1134	c.1073delC	c.(1072-1074)ACCfs	p.T358fs	TGM6_uc010gal.1_Frame_Shift_Del_p.T358fs	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	358					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	CTGGATGCCACCCCCCAGGAG	0.582													-	2384126	C	-	2384126	7	5	131	1	0	1	0	1	0	0	0	0	15831	507	18	0	1103	0	TGM6	20	2384126	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	824891	2384126	60641394	1982	78157											
SLC4A11	83959	broad.mit.edu	37	chr20	3211445	3211445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcccagagaagagcgcGtagagcaggcccccgatgct	15	13	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:3211445G>A	uc002wig.2	-	10	1311	c.1263C>T	c.(1261-1263)TAC>TAT	p.Y421Y	SLC4A11_uc010zqe.1_Silent_p.Y448Y|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Silent_p.Y405Y	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	421	Helical; (Potential).|Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						AGAAGAGCGCGTAGAGCAGGC	0.682													A	3211445	G	A	3211445	2	1	131	1	0	0	0	0	0	0	0	1	14652	1140	40	1		1	SLC4A11	20	3211445	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	827319	3211445	59814075	1983	78158											
JAG1	182	broad.mit.edu	37	chr20	10629262	10629262	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgttgatttcattctgacAgtgacccccattcaaacagg	7	11	4	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:10629262A>G	uc002wnw.2	-	12	2020	c.1504T>C	c.(1504-1506)TGT>CGT	p.C502R	JAG1_uc010gcd.1_Missense_Mutation_p.C60R	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	502	EGF-like 8; calcium-binding (Potential).|Extracellular (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						TCATTCTGACAGTGACCCCCA	0.488									Alagille_Syndrome				G	10629262	A	G	10629262	3	3	131	1	0	0	0	0	1	0	0	0	7934	188	7	3	2212	3	JAG1	20	10629262	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	7417817	10629262	52396258	1984	78159											
ISM1	140862	broad.mit.edu	37	chr20	13279773	13279773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaggacgccagcgggccCaaggagaagctggagatcta	16	9	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:13279773C>T	uc010gce.1	+	6	1068	c.1062C>T	c.(1060-1062)CCC>CCT	p.P354P	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	354	AMOP.					extracellular region					0						CCAGCGGGCCCAAGGAGAAGC	0.647													T	13279773	C	T	13279773	2	4	131	1	0	0	0	0	0	0	0	1	7860	581	21	4		4	ISM1	20	13279773	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2650511	13279773	49745747	1985	78160											
DSTN	11034	broad.mit.edu	37	chr20	17581420	17581420	+	Frame_Shift_Del	DEL	T	T	-													agctgatgaagtatgtcgcaTtttttatgacatgaaagttc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:17581420delT	uc002wpr.2	+	2	296	c.41delT	c.(40-42)ATTfs	p.I14fs	DSTN_uc002wpq.2_5'UTR|DSTN_uc010gck.2_5'UTR	NM_006870	NP_006861	P60981	DEST_HUMAN	destrin isoform a	14	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			large_intestine(1)|skin(1)	2						GTATGTCGCATTTTTTATGAC	0.348													-	17581420	T	-	17581420	7	5	131	1	0	1	0	1	0	0	0	0	4784	1493	52	0	47	0	DSTN	20	17581420	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	4301647	17581420	45444100	1986	78161											
GZF1	64412	broad.mit.edu	37	chr20	23346169	23346171	+	In_Frame_Del	DEL	GAA	GAA	-													ttcccatgcgagctgtgcggGaagaagttcaagcgcaagaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:23346169_23346171delGAA	uc010gdb.2	+	3	1323_1325	c.1149_1151delGAA	c.(1147-1152)GGGAAG>GGG	p.K385del	GZF1_uc002wsy.2_In_Frame_Del_p.K385del|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_In_Frame_Del_p.K385del	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	385	C2H2-type 3.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AGCTGTGCGGGAAGAAGTTCAAG	0.67													-	23346171	GAA	-	23346169	7	5	131	1	0	1	0	1	0	0	0	0	6914	1161	41	0	1151	0	GZF1	20	23346169	In_Frame_Del	DEL	GAA	TCGA-BR-A4QL-01A-31D-A25D-08	5764749	23346169	39679351	1987	78162											
ENTPD6	955	broad.mit.edu	37	chr20	25187894	25187894	+	Frame_Shift_Del	DEL	G	G	-													agcatcaccagggcagccccGggggcccggtggggtcagca					rs146711180		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:25187893_25187893CG>C	uc002wuj.2	+	2	416	c.236_236CG>C	c.(235-237)ccgfs	p.P79fs	ENTPD6_uc010zsy.1_Frame_Shift_Del_p.P79fs|ENTPD6_uc010gdj.1_Frame_Shift_Del_p.P51fs|ENTPD6_uc002wum.2_Frame_Shift_Del_p.P62fs|ENTPD6_uc010zta.1_Frame_Shift_Del_p.P79fs|ENTPD6_uc002wuk.2_Frame_Shift_Del_p.P78fs|ENTPD6_uc002wul.2_Frame_Shift_Del_p.P78fs|ENTPD6_uc010ztb.1_Frame_Shift_Del_p.P51fs|ENTPD6_uc010ztc.1_Frame_Shift_Del_p.P51fs|ENTPD6_uc002wuo.2_Intron|ENTPD6_uc010zsz.1_Intron|ENTPD6_uc010ztd.1_5'Flank	NM_001247	NP_001238	O75354	ENTP6_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.	79						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						AGGGCAGCCCCGGGGGCCCGG	0.657													-	25187894	G	-	25187894	7	5	131	1	0	1	0	1	0	0	0	0	5143	1103	39	0	250	0	ENTPD6	20	25187894	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	1841725	25187894	37837626	1988	78163											
NINL	22981	broad.mit.edu	37	chr20	25442243	25442243	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgattcaggcattcaagtTcaactctaagtttttggatt	7	8	4	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:25442243T>C	uc002wux.1	-	21	3685	c.3611A>G	c.(3610-3612)GAA>GGA	p.E1204G	NINL_uc010gdn.1_Missense_Mutation_p.E855G|NINL_uc002wuw.1_5'Flank	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	1204	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GCATTCAAGTTCAACTCTAAG	0.438													C	25442243	T	C	25442243	3	2	131	1	0	0	0	0	1	0	0	0	10420	1783	62	3	553	3	NINL	20	25442243	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	254349	25442243	37583277	1989	78164											
DEFB118	117285	broad.mit.edu	37	chr20	29960908	29960908	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taagcagcaagaaagatatgGttgaagagtctgaggcggga	15	4	1	5			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:29960908G>T	uc002wvr.2	+	2	333	c.307G>T	c.(307-309)GTT>TTT	p.V103F		NM_054112	NP_473453	Q96PH6	DB118_HUMAN	beta-defensin 118 precursor	103					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				ovary(3)|pancreas(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GAAAGATATGGTTGAAGAGTC	0.458													T	29960908	G	T	29960908	3	4	131	1	0	0	0	0	1	0	0	0	4406	1261	44	5	313	5	DEFB118	20	29960908	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	4518665	29960908	33064612	1990	78165											
SNTA1	6640	broad.mit.edu	37	chr20	32000508	32000508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggcttggatggcagtcGcccacgacctcgcactagcc	12	16	0	0	rs139467962		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:32000508G>A	uc002wzd.1	-	4	1054	c.782C>T	c.(781-783)GCG>GTG	p.A261V	SNTA1_uc010zuf.1_Intron	NM_003098	NP_003089	Q13424	SNTA1_HUMAN	acidic alpha 1 syntrophin	261	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			skin(1)	1						GATGGCAGTCGCCCACGACCT	0.607													A	32000508	G	A	32000508	3	1	131	1	0	0	0	0	1	0	0	0	14871	1087	38	1	755	1	SNTA1	20	32000508	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2039600	32000508	31025012	1991	78166											
CEP250	11190	broad.mit.edu	37	chr20	34092805	34092805	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctacaagcctctgtcctggAgcgggactcagaacagcaaa	10	13	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:34092805A>C	uc002xcm.2	+	31	7279	c.6608A>C	c.(6607-6609)GAG>GCG	p.E2203A	CEP250_uc010zve.1_Missense_Mutation_p.E1571A	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	2203	Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TCTGTCCTGGAGCGGGACTCA	0.607													C	34092805	A	C	34092805	3	2	131	1	0	0	0	0	1	0	0	0	3252	304	11	5	6714	5	CEP250	20	34092805	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	2092297	34092805	28932715	1992	78167											
DLGAP4	22839	broad.mit.edu	37	chr20	35127677	35127677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaacggttcccacctctcGgaggacaacggacccaaagc	11	14	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:35127677G>A	uc002xff.2	+	9	2478	c.2043G>A	c.(2041-2043)TCG>TCA	p.S681S	DLGAP4_uc010zvp.1_Silent_p.S681S|DLGAP4_uc002xfg.2_Intron|DLGAP4_uc002xfh.2_Intron|DLGAP4_uc002xfi.2_5'UTR|DLGAP4_uc002xfj.2_5'UTR	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCACCTCTCGGAGGACAACG	0.468													A	35127677	G	A	35127677	2	1	131	1	0	0	0	0	0	0	0	1	4562	1103	39	1		1	DLGAP4	20	35127677	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1034872	35127677	27897843	1993	78168											
C20orf117	140710	broad.mit.edu	37	chr20	35444330	35444330	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctgccaagctctccccGcactctccgccacccagcgc	7	22	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:35444330G>A	uc002xgd.1	-	5	1128	c.801C>T	c.(799-801)TGC>TGT	p.C267C	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	267											0		Myeloproliferative disorder(115;0.00874)				AGCTCTCCCCGCACTCTCCGC	0.667													A	35444330	G	A	35444330	2	1	131	1	0	0	0	0	0	0	0	1	2083	1079	38	1		1	C20orf117	20	35444330	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	316653	35444330	27581190	1994	78169											
C20orf117	140710	broad.mit.edu	37	chr20	35444560	35444560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctcctcggctgacagcgCgctgtccaggtccccataga	11	16	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:35444560C>T	uc002xgd.1	-	5	898	c.571G>A	c.(571-573)GCG>ACG	p.A191T	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	191											0		Myeloproliferative disorder(115;0.00874)				GCTGACAGCGCGCTGTCCAGG	0.617													T	35444560	C	T	35444560	3	4	131	1	0	0	0	0	1	0	0	0	2083	768	27	1	3806	1	C20orf117	20	35444560	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	230	35444560	27580960	1995	78170											
KIAA0406	9675	broad.mit.edu	37	chr20	36640541	36640541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgtgtattcttcaagtaTagatgtcacaatctctctca	5	9	5	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:36640541T>C	uc002xhl.2	-	3	1887	c.1678A>G	c.(1678-1680)ATA>GTA	p.I560V	KIAA0406_uc002xhm.2_Missense_Mutation_p.I560V	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	560							binding				0		Myeloproliferative disorder(115;0.00874)				TCTTCAAGTATAGATGTCACA	0.433													C	36640541	T	C	36640541	3	2	131	1	0	0	0	0	1	0	0	0	8173	1406	49	3	1619	3	KIAA0406	20	36640541	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1195981	36640541	26384979	1996	78171											
PPP1R16B	26051	broad.mit.edu	37	chr20	37536791	37536791	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcggacctccacctacaaCggggacatcagggagaccag	12	14	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:37536791C>T	uc002xje.2	+	10	1338	c.1149C>T	c.(1147-1149)AAC>AAT	p.N383N	PPP1R16B_uc010ggc.2_Silent_p.N341N	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	383					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				CCACCTACAACGGGGACATCA	0.592													T	37536791	C	T	37536791	2	4	131	1	0	0	0	0	0	0	0	1	12366	535	19	1		1	PPP1R16B	20	37536791	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	896250	37536791	25488729	1997	78172											
PLCG1	5335	broad.mit.edu	37	chr20	39798904	39798904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtggcccagacagcagacGccagggtgagattctgctgg	15	10	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:39798904G>A	uc002xjp.1	+	24	2924	c.2803G>A	c.(2803-2805)GCC>ACC	p.A935T	PLCG1_uc002xjo.1_Missense_Mutation_p.A935T|PLCG1_uc010zwe.1_Missense_Mutation_p.A561T|PLCG1_uc010ggf.2_Missense_Mutation_p.A259T	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	935					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				GACAGCAGACGCCAGGGTGAG	0.647													A	39798904	G	A	39798904	3	1	131	1	0	0	0	0	1	0	0	0	12035	1087	38	1	2897	1	PLCG1	20	39798904	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2262113	39798904	23226616	1998	78173											
CHD6	84181	broad.mit.edu	37	chr20	40045241	40045241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcaccttgtggatctggGccgccaatgctgcgccgttg	14	13	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:40045241G>A	uc002xka.1	-	33	6651	c.6473C>T	c.(6472-6474)GCC>GTC	p.A2158V	CHD6_uc002xjz.1_5'Flank	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2158					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				GTGGATCTGGGCCGCCAATGC	0.517													A	40045241	G	A	40045241	3	1	131	1	0	0	0	0	1	0	0	0	3329	1203	42	2	1694	2	CHD6	20	40045241	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	246337	40045241	22980279	1999	78174											
PABPC1L	80336	broad.mit.edu	37	chr20	43545401	43545401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccctgtggcccaggtggCgtgtgacgagcatggctccc	14	15	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:43545401C>T	uc010ggv.1	+	3	474	c.392C>T	c.(391-393)GCG>GTG	p.A131V	PABPC1L_uc010zwq.1_RNA	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	poly(A)-binding protein, cytoplasmic 1-like	131	RRM 2.						nucleotide binding|RNA binding			ovary(1)	1						GCCCAGGTGGCGTGTGACGAG	0.562													T	43545401	C	T	43545401	3	4	131	1	0	0	0	0	1	0	0	0	11364	768	27	1	402	1	PABPC1L	20	43545401	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3500160	43545401	19480119	2000	78175											
C20orf165	128497	broad.mit.edu	37	chr20	44515246	44515246	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgtgcctgctcccaccgCgccccctccacagcaccctc	7	23	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:44515246C>T	uc002xqf.2	-	2	603	c.594G>A	c.(592-594)GCG>GCA	p.A198A		NM_080608	NP_542175	Q9BR10	CT165_HUMAN	chromosome 20 open reading frame 165	198						integral to membrane					0		Myeloproliferative disorder(115;0.0122)				GCTCCCACCGCGCCCCCTCCA	0.622													T	44515246	C	T	44515246	2	4	131	1	0	0	0	0	0	0	0	1	2094	755	27	1		1	C20orf165	20	44515246	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	969845	44515246	18510274	2001	78176											
CTSA	5476	broad.mit.edu	37	chr20	44527008	44527008	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgaacattgctcctcagggCgccggccacatggttcccac	10	16	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:44527008C>T	uc002xqj.3	+	15	1836	c.1362C>T	c.(1360-1362)GGC>GGT	p.G454G	CTSA_uc002xqh.2_Silent_p.G472G|CTSA_uc002xqi.2_RNA|CTSA_uc010zxi.1_Silent_p.G455G|CTSA_uc002xqk.3_Silent_p.G454G	NM_001127695	NP_001121167	P10619	PPGB_HUMAN	cathepsin A isoform b precursor	454					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CTCCTCAGGGCGCCGGCCACA	0.572													T	44527008	C	T	44527008	2	4	131	1	0	0	0	0	0	0	0	1	4029	755	27	1		1	CTSA	20	44527008	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	11762	44527008	18498512	2002	78177											
ZNF335	63925	broad.mit.edu	37	chr20	44598221	44598221	+	Frame_Shift_Del	DEL	G	G	-													cactagagtgcacaagtgctGggggaccgcctgtcacccct							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:44598220_44598220TG>T	uc002xqw.3	-	2	435	c.312_312CA>A	c.(310-312)ccafs	p.P104fs	ZNF335_uc010zxk.2_Intron|ZNF335_uc002xqx.1_Frame_Shift_Del_p.P72fs|ZNF335_uc002xqy.3_5'Flank	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCACAAGTGCTGGGGGACCGC	0.612											OREG0025987	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	44598221	G	-	44598221	7	5	131	1	0	1	0	1	0	0	0	0	17849	1348	47	0	3821	0	ZNF335	20	44598221	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	71213	44598221	18427299	2003	78178											
MMP9	4318	broad.mit.edu	37	chr20	44639150	44639150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actactcggaagacttgccgCgggcggtgattgacgacgcc	14	12	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:44639150C>T	uc002xqz.2	+	3	419	c.400C>T	c.(400-402)CGG>TGG	p.R134W		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	134					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	AGACTTGCCGCGGGCGGTGAT	0.617													T	44639150	C	T	44639150	3	4	131	1	0	0	0	0	1	0	0	0	9669	759	27	1	410	1	MMP9	20	44639150	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	40929	44639150	18386370	2004	78179											
MMP9	4318	broad.mit.edu	37	chr20	44641102	44641102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggcggcgcatgagttcgGccacgcgctgggcttagatc	16	12	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:44641102G>A	uc002xqz.2	+	8	1230	c.1211G>A	c.(1210-1212)GGC>GAC	p.G404D		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	404					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CATGAGTTCGGCCACGCGCTG	0.642													A	44641102	G	A	44641102	3	1	131	1	0	0	0	0	1	0	0	0	9669	1203	42	2	1241	2	MMP9	20	44641102	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1952	44641102	18384418	2005	78180											
SLC12A5	57468	broad.mit.edu	37	chr20	44669091	44669091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccatgctgaacaacatgcGtgtttacggcacctgtgtgc	11	11	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:44669091G>A	uc010zxl.1	+	7	837	c.761G>A	c.(760-762)CGT>CAT	p.R254H	SLC12A5_uc002xra.2_Missense_Mutation_p.R231H|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.R231H	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	254	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AACAACATGCGTGTTTACGGC	0.547													A	44669091	G	A	44669091	3	1	131	1	0	0	0	0	1	0	0	0	14386	1145	40	1	843	1	SLC12A5	20	44669091	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	27989	44669091	18356429	2006	78181											
SLC12A5	57468	broad.mit.edu	37	chr20	44671923	44671923	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgatatgacctcctacTtcaccctgctggttggcatc	8	13	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:44671923T>G	uc010zxl.1	+	9	1343	c.1267T>G	c.(1267-1269)TTC>GTC	p.F423V	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.F400V	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	423	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GACCTCCTACTTCACCCTGCT	0.562													G	44671923	T	G	44671923	3	3	131	1	0	0	0	0	1	0	0	0	14386	1609	56	5	1357	5	SLC12A5	20	44671923	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	2832	44671923	18353597	2007	78182											
ELMO2	63916	broad.mit.edu	37	chr20	44997547	44997547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctcatatttattaggtgCgatgaagtttaaggtctcat	8	7	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:44997547C>T	uc002xrt.1	-	21	2155	c.1945G>A	c.(1945-1947)GCA>ACA	p.A649T	ELMO2_uc010zxq.1_Missense_Mutation_p.A381T|ELMO2_uc002xrs.1_Missense_Mutation_p.A396T|ELMO2_uc002xru.1_Missense_Mutation_p.A649T|ELMO2_uc010zxr.1_Missense_Mutation_p.A661T|ELMO2_uc010zxs.1_Missense_Mutation_p.A466T	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	649	PH.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				TTATTAGGTGCGATGAAGTTT	0.458													T	44997547	C	T	44997547	3	4	131	1	0	0	0	0	1	0	0	0	5066	768	27	1	225	1	ELMO2	20	44997547	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	325624	44997547	18027973	2008	78183											
ELMO2	63916	broad.mit.edu	37	chr20	45017707	45017707	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcttggttccactttccacGagccttgtcagcacaatgat	8	12	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:45017707G>T	uc002xrt.1	-	7	606	c.396C>A	c.(394-396)CTC>CTA	p.L132L	ELMO2_uc002xru.1_Silent_p.L132L|ELMO2_uc010zxr.1_Silent_p.L132L|ELMO2_uc010zxs.1_5'UTR|ELMO2_uc002xrw.2_5'Flank|ELMO2_uc002xrx.1_Silent_p.L132L	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	132					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CACTTTCCACGAGCCTTGTCA	0.522													T	45017707	G	T	45017707	2	4	131	1	0	0	0	0	0	0	0	1	5066	1045	37	5		5	ELMO2	20	45017707	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	20160	45017707	18007813	2009	78184											
SLC2A10	81031	broad.mit.edu	37	chr20	45354006	45354006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcgctgtggttggcttcGccatttccctctcctccatg	10	16	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:45354006G>A	uc002xsl.2	+	2	428	c.331G>A	c.(331-333)GCC>ACC	p.A111T		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	111	Helical; Name=4; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GGTTGGCTTCGCCATTTCCCT	0.652													A	45354006	G	A	45354006	3	1	131	1	0	0	0	0	1	0	0	0	14539	1087	38	1	337	1	SLC2A10	20	45354006	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	336299	45354006	17671514	2010	78185											
SULF2	55959	broad.mit.edu	37	chr20	46295140	46295140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaggtttcggggctgggCggcatcacccaggcctacgt	17	11	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:46295140C>T	uc002xto.2	-	12	1999	c.1669G>A	c.(1669-1671)GCC>ACC	p.A557T	SULF2_uc002xtr.2_Missense_Mutation_p.A557T|SULF2_uc002xtq.2_Missense_Mutation_p.A557T|SULF2_uc010zyd.1_5'Flank	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	557					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						CGGGGCTGGGCGGCATCACCC	0.647													T	46295140	C	T	46295140	3	4	131	1	0	0	0	0	1	0	0	0	15370	768	27	1	983	1	SULF2	20	46295140	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	941134	46295140	16730380	2011	78186											
SULF2	55959	broad.mit.edu	37	chr20	46307454	46307454	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccgtgtccagcagcttgaGgatggatttcccgtccatat	10	12	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:46307454G>T	uc002xto.2	-	8	1489	c.1159C>A	c.(1159-1161)CTC>ATC	p.L387I	SULF2_uc002xtr.2_Missense_Mutation_p.L387I|SULF2_uc002xtq.2_Missense_Mutation_p.L387I	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	387					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						AGCAGCTTGAGGATGGATTTC	0.607													T	46307454	G	T	46307454	3	4	131	1	0	0	0	0	1	0	0	0	15370	1000	35	5	1509	5	SULF2	20	46307454	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	12314	46307454	16718066	2012	78187											
ARFGEF2	10564	broad.mit.edu	37	chr20	47605105	47605105	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtaaagatctgccagaagaGtatctctcaagcatctatga	8	8	4	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:47605105G>T	uc002xtx.3	+	18	2591	c.2439G>T	c.(2437-2439)GAG>GAT	p.E813D	ARFGEF2_uc010zyf.1_Missense_Mutation_p.E106D	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	813					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGCCAGAAGAGTATCTCTCAA	0.313													T	47605105	G	T	47605105	3	4	131	1	0	0	0	0	1	0	0	0	853	1020	36	5	2509	5	ARFGEF2	20	47605105	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1297651	47605105	15420415	2013	78188											
SLC9A8	23315	broad.mit.edu	37	chr20	48472053	48472053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgcacttcatgtggacccCgtgctcaacatgctggtctt	9	12	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:48472053C>T	uc002xuv.1	+	8	858	c.648C>T	c.(646-648)CCC>CCT	p.P216P	SLC9A8_uc010zym.1_5'UTR|SLC9A8_uc010zyj.1_Silent_p.P232P|SLC9A8_uc010zyk.1_Missense_Mutation_p.R205C|SLC9A8_uc010zyl.1_Missense_Mutation_p.R177C|SLC9A8_uc010gib.1_Missense_Mutation_p.R171C	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	216						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			ATGTGGACCCCGTGCTCAACA	0.473													T	48472053	C	T	48472053	2	4	131	1	0	0	0	0	0	0	0	1	14720	639	23	1		1	SLC9A8	20	48472053	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	866948	48472053	14553467	2014	78189											
PTPN1	5770	broad.mit.edu	37	chr20	49196318	49196318	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctccccggccacccaaaCgaatcctggagccacacaat	6	19	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:49196318C>T	uc002xvl.2	+	8	1117	c.943C>T	c.(943-945)CGA>TGA	p.R315*	PTPN1_uc010zys.1_Nonsense_Mutation_p.R242*	NM_002827	NP_002818	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type	315					blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding				0		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	GCCACCCAAACGAATCCTGGA	0.567											OREG0026029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	49196318	C	T	49196318	4	4	131	1	0	0	0	0	0	1	0	0	12779	528	19	1	973	1	PTPN1	20	49196318	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	724265	49196318	13829202	2015	78190											
ADNP	23394	broad.mit.edu	37	chr20	49520470	49520470	+	Frame_Shift_Del	DEL	T	T	-													caacccaatgtcactaagtaTttttttcacagttttccggg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:49520470delT	uc002xvt.1	-	3	409	c.64delA	c.(64-66)ATAfs	p.I22fs	ADNP_uc002xvu.1_Frame_Shift_Del_p.I22fs	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	22						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						TCACTAAGTATTTTTTTCACA	0.313													-	49520470	T	-	49520470	7	5	131	1	0	1	0	1	0	0	0	0	323	1493	52	0	3256	0	ADNP	20	49520470	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	324152	49520470	13505050	2016	78191											
ZFP64	55734	broad.mit.edu	37	chr20	50769076	50769077	+	Frame_Shift_Ins	INS	-	-	GG													cggacaccgcgaggactgagINSggggggcgatcagactgacc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:50769075_50769076A>AGG	uc002xwl.3	-	5	2004_2005	c.1655_1656T>CCT	c.(1654-1656)cctfs	p.P552fs	ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Frame_Shift_Ins_p.P550fs|ZFP64_uc002xwn.3_Frame_Shift_Ins_p.P498fs	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673													GG	50769077	-	GG	50769076	7	5	131	1	0	1	1	0	0	0	0	0	17649	1000	35	0	1585	0	ZFP64	20	50769076	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1248606	50769076	12256444	2017	78192											
C20orf43	51507	broad.mit.edu	37	chr20	55093208	55093208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccacaaagaggtccatcGctgacagtgaagaatcggag	13	9	0	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:55093208G>A	uc002xxt.2	+	9	915	c.808G>A	c.(808-810)GCT>ACT	p.A270T	C20orf43_uc010zzf.1_Missense_Mutation_p.A300T|C20orf43_uc002xxu.2_Missense_Mutation_p.A269T|C20orf43_uc002xxv.2_3'UTR|GCNT7_uc010zzg.1_Intron	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	hypothetical protein LOC51507	270										ovary(1)	1			Colorectal(105;0.202)			GAGGTCCATCGCTGACAGTGA	0.542													A	55093208	G	A	55093208	3	1	131	1	0	0	0	0	1	0	0	0	2112	1087	38	1	842	1	C20orf43	20	55093208	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	4324132	55093208	7932312	2018	78193											
STX16	8675	broad.mit.edu	37	chr20	57246273	57246273	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtggaagagcgggaaCgagagattcgccagattgta	16	5	0	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:57246273C>T	uc002xzi.2	+	7	1447	c.712C>T	c.(712-714)CGA>TGA	p.R238*	STX16_uc010zzq.1_Nonsense_Mutation_p.R52*|STX16_uc002xzk.2_Nonsense_Mutation_p.R221*|STX16_uc002xzm.2_Nonsense_Mutation_p.R234*|STX16_uc002xzj.2_Nonsense_Mutation_p.R217*|STX16_uc002xzl.2_Nonsense_Mutation_p.R52*	NM_001001433	NP_001001433	O14662	STX16_HUMAN	syntaxin 16 isoform a	238	t-SNARE coiled-coil homology.|Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			ovary(1)	1	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			AGAGCGGGAACGAGAGATTCG	0.473													T	57246273	C	T	57246273	4	4	131	1	0	0	0	0	0	1	0	0	15338	528	19	1	738	1	STX16	20	57246273	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2153065	57246273	5779247	2019	78194											
GNAS	2778	broad.mit.edu	37	chr20	57485424	57485424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaggacccacgcgtgaccCgggccaagtacttcattcga	12	13	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:57485424C>T	uc002xzw.2	+	12	3220	c.2935C>T	c.(2935-2937)CGG>TGG	p.R979W	GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.R277W|GNAS_uc002xzx.2_Missense_Mutation_p.R277W|GNAS_uc010gjr.2_Missense_Mutation_p.R227W|GNAS_uc002xzy.2_Missense_Mutation_p.R262W|GNAS_uc002yaa.2_Missense_Mutation_p.R322W|GNAS_uc010zzt.1_Missense_Mutation_p.R337W|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.R227W|GNAS_uc002yae.2_Missense_Mutation_p.R261W	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	336					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ACGCGTGACCCGGGCCAAGTA	0.443			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			T	57485424	C	T	57485424	3	4	131	1	0	0	0	0	1	0	0	0	6510	643	23	1	3869	1	GNAS	20	57485424	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	239151	57485424	5540096	2020	78195											
ZNF831	128611	broad.mit.edu	37	chr20	57766438	57766438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacatcgtgggcactctgCctgtcctgtcgccgggcctg	13	14	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:57766438C>T	uc002yan.2	+	1	364	c.364C>T	c.(364-366)CCT>TCT	p.P122S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	122						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					GGGCACTCTGCCTGTCCTGTC	0.682													T	57766438	C	T	57766438	3	4	131	1	0	0	0	0	1	0	0	0	18182	739	26	2	366	2	ZNF831	20	57766438	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	281014	57766438	5259082	2021	78196											
TAF4	6874	broad.mit.edu	37	chr20	60575303	60575303	+	Frame_Shift_Del	DEL	T	T	-													tgtaattccgttataccatgTtttttacctaaaggtcaggc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:60575303delT	uc002ybs.2	-	11	2664	c.2664delA	c.(2662-2664)AAAfs	p.K888fs		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	888					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TTATACCATGTTTTTTACCTA	0.353													-	60575303	T	-	60575303	7	5	131	1	0	1	0	1	0	0	0	0	15523	1722	60	0	613	0	TAF4	20	60575303	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	2808865	60575303	2450217	2022	78197											
OSBPL2	9885	broad.mit.edu	37	chr20	60854258	60854258	+	Frame_Shift_Del	DEL	C	C	-													tcggaacaggtcagtcaccaCccccccatcagtgcgttcca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:60854257_60854257AC>A	uc002yck.1	+	6	738	c.536_536AC>A	c.(535-537)cacfs	p.H179fs	OSBPL2_uc002ycl.1_Frame_Shift_Del_p.H167fs|OSBPL2_uc011aah.1_Frame_Shift_Del_p.H87fs|OSBPL2_uc002ycm.1_5'UTR	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA.	179					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTCAGTCACCACCCCCCCATC	0.463													-	60854258	C	-	60854258	7	5	131	1	0	1	0	1	0	0	0	0	11278	506	18	0	559	0	OSBPL2	20	60854258	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	278955	60854258	2171262	2023	78198											
LAMA5	3911	broad.mit.edu	37	chr20	60887229	60887229	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgggtgtgaggtctcacCggggacgcccggtagtagag	18	10	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:60887229C>T	uc002ycq.2	-	69	9571	c.9504G>A	c.(9502-9504)CCG>CCA	p.P3168P		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3168	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGGTCTCACCGGGGACGCCC	0.687													T	60887229	C	T	60887229	2	4	131	1	0	0	0	0	0	0	0	1	8609	666	23	1		1	LAMA5	20	60887229	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	32971	60887229	2138291	2024	78199											
DIDO1	11083	broad.mit.edu	37	chr20	61512527	61512528	+	Frame_Shift_Del	DEL	TC	TC	-													cgaggccacccctggaagcaTctctctcgggcagggcaccc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:61512527_61512528delTC	uc002ydr.1	-	16	5044_5045	c.4780_4781delGA	c.(4780-4782)GATfs	p.D1594fs	DIDO1_uc002yds.1_Frame_Shift_Del_p.D1594fs	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1594					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CCTGGAAGCATCTCTCTCGGGC	0.713													-	61512528	TC	-	61512527	7	5	131	1	0	1	0	1	0	0	0	0	4522	1435	50	0	1945	0	DIDO1	20	61512527	Frame_Shift_Del	DEL	TC	TCGA-BR-A4QL-01A-31D-A25D-08	625298	61512527	1512993	2025	78200											
BHLHE23	128408	broad.mit.edu	37	chr20	61637728	61637728	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagcccgtccagcgcgtcGtttaggtcgtgcatgcgccg	14	15	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:61637728G>A	uc002yeb.2	-	1	660	c.351C>T	c.(349-351)AAC>AAT	p.N117N		NM_080606	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix domain containing, class	117	Helix-loop-helix motif.				transcription, DNA-dependent	nucleus	DNA binding				0						CCAGCGCGTCGTTTAGGTCGT	0.368													A	61637728	G	A	61637728	2	1	131	1	0	0	0	0	0	0	0	1	1422	1136	40	1		1	BHLHE23	20	61637728	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	125201	61637728	1387792	2026	78201											
COL20A1	57642	broad.mit.edu	37	chr20	61941805	61941805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagagtacctggtctccGtgttccccatctatgagggc	11	13	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:61941805G>A	uc011aau.1	+	11	1436	c.1336G>A	c.(1336-1338)GTG>ATG	p.V446M	COL20A1_uc011aav.1_Missense_Mutation_p.V267M	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	446	Fibronectin type-III 2.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					CCTGGTCTCCGTGTTCCCCAT	0.687													A	61941805	G	A	61941805	3	1	131	1	0	0	0	0	1	0	0	0	3679	1145	40	1	1374	1	COL20A1	20	61941805	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	304077	61941805	1083715	2027	78202											
CHRNA4	1137	broad.mit.edu	37	chr20	61981737	61981737	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaagaccctgcgtacccaGgtgggcatggtgtgcgtgcg	17	10	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:61981737G>T	uc002yes.2	-	5	1204	c.1026C>A	c.(1024-1026)ACC>ACA	p.T342T	CHRNA4_uc002yet.1_Silent_p.T166T|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.T271T|CHRNA4_uc002yev.1_Silent_p.T166T|CHRNA4_uc010gkf.1_Silent_p.T166T	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	342	Cytoplasmic (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TGCGTACCCAGGTGGGCATGG	0.617													T	61981737	G	T	61981737	2	4	131	1	0	0	0	0	0	0	0	1	3385	987	35	5		5	CHRNA4	20	61981737	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	39932	61981737	1043783	2028	78203											
DNAJC5	80331	broad.mit.edu	37	chr20	62560719	62560719	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgacaacccggaggccgcGgacaagtttaaggagatcaa	12	12	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:62560719G>A	uc002yhf.2	+	3	332	c.162G>A	c.(160-162)GCG>GCA	p.A54A	DNAJC5_uc002yhg.1_Silent_p.A54A|DNAJC5_uc002yhh.2_RNA	NM_025219	NP_079495	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	54	J.				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			pancreas(1)	1	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGGAGGCCGCGGACAAGTTTA	0.552													A	62560719	G	A	62560719	2	1	131	1	0	0	0	0	0	0	0	1	4650	1103	39	1		1	DNAJC5	20	62560719	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	578982	62560719	464801	2029	78204											
UCKL1	54963	broad.mit.edu	37	chr20	62571561	62571561	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgtccaccgccgtggtgatGattctcactcgcggaaatgc	11	12	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:62571561G>A	uc010gkn.2	-	14	1552	c.1509C>T	c.(1507-1509)ATC>ATT	p.I503I	UCKL1_uc002yhj.2_Silent_p.I146I|UCKL1_uc011abm.1_Silent_p.I488I|UCKL1_uc011abn.1_RNA	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	503					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCGTGGTGATGATTCTCACTC	0.592													A	62571561	G	A	62571561	2	1	131	1	0	0	0	0	0	0	0	1	16922	1280	45	4		4	UCKL1	20	62571561	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	10842	62571561	453959	2030	78205											
ZNF512B	57473	broad.mit.edu	37	chr20	62597786	62597786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccggcatggccttggtgaCgggcatgggcctgctgactg	17	11	0	2	rs148308453		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr20:62597786C>T	uc002yhl.1	-	5	796	c.742G>A	c.(742-744)GTC>ATC	p.V248I		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCCTTGGTGACGGGCATGGGC	0.597													T	62597786	C	T	62597786	3	4	131	1	0	0	0	0	1	0	0	0	17954	536	19	1	1988	1	ZNF512B	20	62597786	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	26225	62597786	427734	2031	78206											
TPTE	7179	broad.mit.edu	37	chr21	10951271	10951271	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataatcaaacttacctttcTacaaatactcgaagaagaac	3	9	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr21:10951271T>C	uc002yip.1	-	10	809	c.441A>G	c.(439-441)GTA>GTG	p.V147V	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.V129V|TPTE_uc002yir.1_Silent_p.V109V|TPTE_uc010gkv.1_Silent_p.V9V	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	147	Helical; (Potential).				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTACCTTTCTACAAATACTC	0.229													C	10951271	T	C	10951271	2	2	131	1	0	0	0	0	0	0	0	1	16427	1509	53	3		3	TPTE	21	10951271	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08		10951271	37178624	2032	78207											
TPTE	7179	broad.mit.edu	37	chr21	10996060	10996060	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctcagaaacagagcctgaGgaatcttttctgatcacaga	9	9	4	5			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr21:10996060G>T	uc002yis.1	-	12		c.2126C>A						P56180	TPTE_HUMAN	Homo sapiens putative tyrosine phosphatase mRNA, complete cds.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGAGCCTGAGGAATCTTTTC	0.383													T	10996060	G	T	10996060	1	4	131	0	1	0	0	0	0	0	0	0	16427	1015	35	5		5	TPTE	21	10996060	RNA	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	44789	10996060	37133835	2033	78208											
NCAM2	4685	broad.mit.edu	37	chr21	22370819	22370819	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcggccggggcagcgaaaGgttctctctccagggctgga	17	11	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr21:22370819G>T	uc002yld.1	+	1	187	c.-62G>T	c.(-64--60)AAGGT>AATGT		NCAM2_uc011acb.1_Translation_Start_Site	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor						neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GGCAGCGAAAGGTTCTCTCTC	0.423													T	22370819	G	T	22370819	1	4	131	1	0	0	0	0	0	0	0	0	10203	1015	35	5		5	NCAM2	21	22370819	Translation_Start_Site	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	11374759	22370819	25759076	2034	78209											
GABPA	2551	broad.mit.edu	37	chr21	27137032	27137032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatcagcctgaactggttgCacagaaatggggacagcgta	12	8	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr21:27137032C>T	uc002ylx.3	+	9	1597	c.1070C>T	c.(1069-1071)GCA>GTA	p.A357V	GABPA_uc002yly.3_Missense_Mutation_p.A357V	NM_002040	NP_002031	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha	357	ETS.				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			ovary(1)|central_nervous_system(1)	2						GAACTGGTTGCACAGAAATGG	0.388													T	27137032	C	T	27137032	3	4	131	1	0	0	0	0	1	0	0	0	6157	710	25	2	1100	2	GABPA	21	27137032	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4766213	27137032	20992863	2035	78210											
SYNJ1	8867	broad.mit.edu	37	chr21	34058147	34058147	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acactatgtaatttttctgcCtttcctcccttaaccatttg	3	12	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr21:34058147C>A	uc002yqh.2	-	9	1146	c.1146G>T	c.(1144-1146)AAG>AAT	p.K382N	SYNJ1_uc011ads.1_Missense_Mutation_p.K343N|SYNJ1_uc002yqf.2_Missense_Mutation_p.K343N|SYNJ1_uc002yqg.2_Missense_Mutation_p.K343N|SYNJ1_uc002yqi.2_Missense_Mutation_p.K382N	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	343	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						ATTTTTCTGCCTTTCCTCCCT	0.338													A	34058147	C	A	34058147	3	1	131	1	0	0	0	0	1	0	0	0	15449	680	24	5	3822	5	SYNJ1	21	34058147	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	6921115	34058147	14071748	2036	78211											
PIGP	51227	broad.mit.edu	37	chr21	38444815	38444815	+	Frame_Shift_Del	DEL	T	T	-													cgacggtgaattttccaccaTttttcctggggctttagaca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr21:38444815delT	uc002yvw.1	-	1	289	c.73delA	c.(73-75)ATGfs	p.M25fs	TTC3_uc002yvz.2_5'Flank|TTC3_uc011aee.1_5'Flank|PIGP_uc002yvy.1_RNA|PIGP_uc002yvx.1_Frame_Shift_Del_p.M1fs|TTC3_uc011aed.1_5'Flank|TTC3_uc010gne.1_5'Flank	NM_153681	NP_710148	P57054	PIGP_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	25					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity				0		Myeloproliferative disorder(46;0.0412)				TTTTCCACCATTTTTCCTGGG	0.488													-	38444815	T	-	38444815	7	5	131	1	0	1	0	1	0	0	0	0	11895	1493	52	0	419	0	PIGP	21	38444815	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	4386668	38444815	9685080	2037	78212											
KCNJ6	3763	broad.mit.edu	37	chr21	38997730	38997730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaggacaggtgtgaaccGgtaaccccacaggatctcac	12	12	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr21:38997730G>A	uc011aej.1	-	4	1056	c.1003C>T	c.(1003-1005)CGG>TGG	p.R335W	KCNJ6_uc002ywo.2_Missense_Mutation_p.R335W	NM_002240	NP_002231	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel J6	335	Cytoplasmic (By similarity).				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1					Halothane(DB01159)	GGTGTGAACCGGTAACCCCAC	0.527													A	38997730	G	A	38997730	3	1	131	1	0	0	0	0	1	0	0	0	8055	1115	39	1	272	1	KCNJ6	21	38997730	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	552915	38997730	9132165	2038	78213											
BRWD1	54014	broad.mit.edu	37	chr21	40627704	40627704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaacttgtccactacgacGcagaccaatatttggagggg	10	10	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr21:40627704G>A	uc002yxk.1	-	19	2261	c.2122C>T	c.(2122-2124)CGT>TGT	p.R708C	BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.R708C|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_Missense_Mutation_p.R161C|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_Intron|BRWD1_uc010goi.1_Missense_Mutation_p.R428C	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCACTACGACGCAGACCAATA	0.438													A	40627704	G	A	40627704	3	1	131	1	0	0	0	0	1	0	0	0	1525	1087	38	1	5175	1	BRWD1	21	40627704	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1629974	40627704	7502191	2039	78214											
MX1	4599	broad.mit.edu	37	chr21	42824678	42824680	+	In_Frame_Del	DEL	AGA	AGA	-													tgcattgcagaaggtcagagAgaaggagctggaagaagaaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr21:42824678_42824680delAGA	uc002yzh.2	+	18	2587_2589	c.1640_1642delAGA	c.(1639-1644)GAGAAG>GAG	p.K548del	MX1_uc002yzi.2_In_Frame_Del_p.K548del|MX1_uc010goq.2_In_Frame_Del_p.K548del	NM_001144925	NP_001138397	P20591	MX1_HUMAN	myxovirus resistance protein 1	548					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				AAGGTCAGAGAGAAGGAGCTGGA	0.507													-	42824680	AGA	-	42824678	7	5	131	1	0	1	0	1	0	0	0	0	9997	304	11	0	1686	0	MX1	21	42824678	In_Frame_Del	DEL	AGA	TCGA-BR-A4QL-01A-31D-A25D-08	2196974	42824678	5305217	2040	78215											
ZNF295	49854	broad.mit.edu	37	chr21	43413803	43413803	+	Frame_Shift_Del	DEL	T	T	-													tcatcatcttctacaaacacTttttttctattaggacacgt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr21:43413803delT	uc002zab.3	-	3	616	c.402delA	c.(400-402)AAAfs	p.K134fs	ZNF295_uc002yzz.3_Frame_Shift_Del_p.K134fs|ZNF295_uc002yzy.3_Frame_Shift_Del_p.K134fs|ZNF295_uc002zaa.3_Frame_Shift_Del_p.K134fs|ZNF295_uc010gov.1_Frame_Shift_Del_p.K134fs|ZNF295_uc002zac.2_Frame_Shift_Del_p.K134fs	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	134					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CTACAAACACTTTTTTTCTAT	0.378													-	43413803	T	-	43413803	7	5	131	1	0	1	0	1	0	0	0	0	17824	1606	56	0	2802	0	ZNF295	21	43413803	Frame_Shift_Del	DEL	T	TCGA-BR-A4QL-01A-31D-A25D-08	589125	43413803	4716092	2041	78216											
UMODL1	89766	broad.mit.edu	37	chr21	43508547	43508547	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctccaccctgctgggtgaCattgcgaagcgtgtctatga	12	11	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr21:43508547C>T	uc002zaf.1	+	5	747	c.747C>T	c.(745-747)GAC>GAT	p.D249D	UMODL1_uc002zad.1_Silent_p.D177D|UMODL1_uc002zae.1_Silent_p.D177D|UMODL1_uc002zag.1_Silent_p.D249D|UMODL1_uc010gow.1_Silent_p.D41D|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Intron|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Silent_p.D41D	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	249	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						TGCTGGGTGACATTGCGAAGC	0.637													T	43508547	C	T	43508547	2	4	131	1	0	0	0	0	0	0	0	1	16977	477	17	4		4	UMODL1	21	43508547	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	94744	43508547	4621348	2042	78217											
ABCG1	9619	broad.mit.edu	37	chr21	43702507	43702507	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaacaaccctccagtcAtgttcttcgatgagcccacc	8	14	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr21:43702507A>G	uc002zaq.2	+	6	818	c.712A>G	c.(712-714)ATG>GTG	p.M238V	ABCG1_uc002zan.2_Missense_Mutation_p.M240V|ABCG1_uc002zam.2_Missense_Mutation_p.M216V|ABCG1_uc002zao.2_Missense_Mutation_p.M235V|ABCG1_uc002zap.2_Missense_Mutation_p.M238V|ABCG1_uc002zar.2_Missense_Mutation_p.M249V|ABCG1_uc011aev.1_Missense_Mutation_p.M249V	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	238	Cytoplasmic (Potential).|ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			ovary(2)|central_nervous_system(1)	3					Adenosine triphosphate(DB00171)	CCCTCCAGTCATGTTCTTCGA	0.617													G	43702507	A	G	43702507	3	3	131	1	0	0	0	0	1	0	0	0	68	217	8	3	902	3	ABCG1	21	43702507	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	193960	43702507	4427388	2043	78218											
TRPM2	7226	broad.mit.edu	37	chr21	45784127	45784127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccaaccgatgcctttggcGacatcgtcttcacgggcctg	11	14	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr21:45784127G>A	uc002zet.1	+	4	598	c.385G>A	c.(385-387)GAC>AAC	p.D129N	TRPM2_uc002zeu.1_Missense_Mutation_p.D129N|TRPM2_uc002zew.1_Missense_Mutation_p.D129N|TRPM2_uc010gpt.1_Missense_Mutation_p.D129N	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	129	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TGCCTTTGGCGACATCGTCTT	0.567													A	45784127	G	A	45784127	3	1	131	1	0	0	0	0	1	0	0	0	16583	1058	37	1	395	1	TRPM2	21	45784127	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2081620	45784127	2345768	2044	78219											
TRPM2	7226	broad.mit.edu	37	chr21	45833790	45833790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtgtgaacttcaacccGgagcactgcagccccaatgg	11	14	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr21:45833790G>A	uc002zet.1	+	21	3192	c.2979G>A	c.(2977-2979)CCG>CCA	p.P993P	TRPM2_uc002zeu.1_Silent_p.P993P|TRPM2_uc002zew.1_Silent_p.P993P|TRPM2_uc010gpt.1_Silent_p.P993P|TRPM2_uc002zex.1_Silent_p.P779P|TRPM2_uc002zey.1_Silent_p.P506P	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	993	Extracellular (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						ACTTCAACCCGGAGCACTGCA	0.642													A	45833790	G	A	45833790	2	1	131	1	0	0	0	0	0	0	0	1	16583	1103	39	1		1	TRPM2	21	45833790	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	49663	45833790	2296105	2045	78220											
C21orf29	54084	broad.mit.edu	37	chr21	45924736	45924736	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccaggaaataatcttctcCcaccgagaaaaactcccagt	5	14	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr21:45924736C>A	uc002zfe.1	-	11	1849	c.1783G>T	c.(1783-1785)GGA>TGA	p.G595*	C21orf29_uc010gpv.1_Nonsense_Mutation_p.G527*	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	595	EAR 6.				cell adhesion	extracellular region	structural molecule activity				0						TAATCTTCTCCCACCGAGAAA	0.453													A	45924736	C	A	45924736	4	1	131	1	0	0	0	0	0	1	0	0	2124	632	22	5	234	5	C21orf29	21	45924736	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	90946	45924736	2205159	2046	78221											
C21orf29	54084	broad.mit.edu	37	chr21	45947323	45947323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagccccacctgagggatgCggaacacctcaatgcccagg	12	14	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr21:45947323C>T	uc002zfe.1	-	7	1067	c.1001G>A	c.(1000-1002)CGC>CAC	p.R334H	C21orf29_uc010gpv.1_Missense_Mutation_p.R266H	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	334	EAR 1.				cell adhesion	extracellular region	structural molecule activity				0						CTGAGGGATGCGGAACACCTC	0.522													T	45947323	C	T	45947323	3	4	131	1	0	0	0	0	1	0	0	0	2124	768	27	1	1032	1	C21orf29	21	45947323	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	22587	45947323	2182572	2047	78222											
KRTAP10-10	353333	broad.mit.edu	37	chr21	46057780	46057780	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaggcctgctgtgtgcCtgtctgctctaagtccgtct	11	14	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr21:46057780C>A	uc002zfq.2	+	1	508	c.446C>A	c.(445-447)CCT>CAT	p.P149H	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	keratin associated protein 10-10	149	15 X 5 AA repeats of C-C-X(3).|10.					keratin filament					0						TGCTGTGTGCCTGTCTGCTCT	0.577													A	46057780	C	A	46057780	3	1	131	1	0	0	0	0	1	0	0	0	8506	681	24	5	448	5	KRTAP10-10	21	46057780	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	110457	46057780	2072115	2048	78223											
PCBP3	54039	broad.mit.edu	37	chr21	47333910	47333910	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctaccgcccaaagcccgccTccacccctgtcatttttgca	5	20	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr21:47333910T>A	uc002zhq.1	+	8	771	c.646T>A	c.(646-648)TCC>ACC	p.S216T	PCBP3_uc010gqb.2_Missense_Mutation_p.S216T|PCBP3_uc002zhp.1_Missense_Mutation_p.S216T|PCBP3_uc010gqc.1_Intron|PCBP3_uc002zhs.1_Intron|PCBP3_uc002zhr.1_Missense_Mutation_p.S216T|PCBP3_uc002zht.1_Missense_Mutation_p.S184T	NM_020528	NP_065389	P57721	PCBP3_HUMAN	poly(rC) binding protein 3 isoform 1	216					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			skin(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		AAAGCCCGCCTCCACCCCTGT	0.622													A	47333910	T	A	47333910	3	1	131	1	0	0	0	0	1	0	0	0	11502	1551	54	5	676	5	PCBP3	21	47333910	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1276130	47333910	795985	2049	78224											
CECR1	51816	broad.mit.edu	37	chr22	17687997	17687997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacgttctgcacccgcttcCgataatcctccagcagaatc	7	15	1	2	rs77563738	by1000genomes	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:17687997C>T	uc002zmk.1	-	2	718	c.506G>A	c.(505-507)CGG>CAG	p.R169Q	CECR1_uc010gqu.1_Missense_Mutation_p.R169Q|CECR1_uc011agi.1_Missense_Mutation_p.R127Q|CECR1_uc011agj.1_Missense_Mutation_p.R127Q	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	cat eye syndrome critical region protein 1	169	PRB domain.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			ovary(1)	1		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CACCCGCTTCCGATAATCCTC	0.512													T	17687997	C	T	17687997	3	4	131	1	0	0	0	0	1	0	0	0	3205	652	23	1	1095	1	CECR1	22	17687997	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08		17687997	33616569	2050	78225											
HIRA	7290	broad.mit.edu	37	chr22	19344515	19344515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgggagagaggagacggCgaccacaggtggagaacact	18	7	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:19344515C>T	uc002zpf.1	-	19	2514	c.2294G>A	c.(2293-2295)CGC>CAC	p.R765H	HIRA_uc011agx.1_Missense_Mutation_p.R631H|HIRA_uc010grn.1_Intron|HIRA_uc010gro.1_Missense_Mutation_p.R721H|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	765	Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					GAGGAGACGGCGACCACAGGT	0.587													T	19344515	C	T	19344515	3	4	131	1	0	0	0	0	1	0	0	0	7120	768	27	1	787	1	HIRA	22	19344515	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1656518	19344515	31960051	2051	78226											
COMT	1312	broad.mit.edu	37	chr22	19956139	19956139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccagacttcctagcacaCgtgcgcgggagcagctgctt	13	14	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:19956139C>T	uc002zqu.2	+	6	945	c.696C>T	c.(694-696)CAC>CAT	p.H232H	COMT_uc002zqv.2_Silent_p.H232H|COMT_uc002zqw.2_Silent_p.H232H|COMT_uc011ahd.1_Silent_p.H232H|COMT_uc002zqx.2_Silent_p.H232H	NM_000754	NP_000745	P21964	COMT_HUMAN	catechol-O-methyltransferase isoform MB-COMT	232					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			ovary(1)	1	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	TCCTAGCACACGTGCGCGGGA	0.607													T	19956139	C	T	19956139	2	4	131	1	0	0	0	0	0	0	0	1	3725	535	19	1		1	COMT	22	19956139	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	611624	19956139	31348427	2052	78227											
ZNF74	7625	broad.mit.edu	37	chr22	20759882	20759882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcaggtgtcccctcttcGcccagcaacgcgttcccgag	9	19	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:20759882G>A	uc010gsm.2	+	6	771	c.559G>A	c.(559-561)GCC>ACC	p.A187T	ZNF74_uc002zsg.2_Missense_Mutation_p.A116T|ZNF74_uc002zsh.2_Missense_Mutation_p.A187T|ZNF74_uc002zsi.2_Missense_Mutation_p.A116T|ZNF74_uc010gsn.2_Missense_Mutation_p.A116T	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	187					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TCCCCTCTTCGCCCAGCAACG	0.667													A	20759882	G	A	20759882	3	1	131	1	0	0	0	0	1	0	0	0	18124	1087	38	1	577	1	ZNF74	22	20759882	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	803743	20759882	30544684	2053	78228											
KLHL22	84861	broad.mit.edu	37	chr22	20796462	20796462	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtcaggggtcccgcggggCggctcaaggagcagggagcg	21	11	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:20796462C>T	uc002zsl.1	-	7	1912	c.1803G>A	c.(1801-1803)CCG>CCA	p.P601P	KLHL22_uc011ahr.1_Silent_p.P458P	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	601					cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TCCCGCGGGGCGGCTCAAGGA	0.652													T	20796462	C	T	20796462	2	4	131	1	0	0	0	0	0	0	0	1	8377	755	27	1		1	KLHL22	22	20796462	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	36580	20796462	30508104	2054	78229											
HIC2	23119	broad.mit.edu	37	chr22	21799658	21799658	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggtccactggcatggggcgGcccccccgcagccagcggct	16	17	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:21799658G>C	uc002zur.3	+	3	704	c.474G>C	c.(472-474)CGG>CGC	p.R158R	HIC2_uc002zus.3_Silent_p.R158R	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	158					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GCATGGGGCGGCCCCCCCGCA	0.716													C	21799658	G	C	21799658	2	2	131	1	0	0	0	0	0	0	0	1	7102	1190	42	5		5	HIC2	22	21799658	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1003196	21799658	29504908	2055	78230											
GNAZ	2781	broad.mit.edu	37	chr22	23438488	23438489	+	Frame_Shift_Ins	INS	-	-	G													ccttcaagatggtggacgtgINSggggggcagaggtcagagcg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:23438487_23438488T>TG	uc002zwu.1	+	1	1142_1143	c.605_606T>TG	c.(604-606)gtgfs	p.V202fs	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	202						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	p.D201D(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		ATGGTGGACGTGGGGGGGCAGA	0.574													G	23438489	-	G	23438488	7	5	131	1	0	1	1	0	0	0	0	0	6514	1335	47	0	608	0	GNAZ	22	23438488	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1638830	23438488	27866078	2056	78231											
CABIN1	23523	broad.mit.edu	37	chr22	24573647	24573647	+	Frame_Shift_Del	DEL	C	C	-													cccagccgggctaagtcccgCcccctgcccaacatgccaaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:24573647delC	uc002zzi.1	+	36	6508	c.6381delC	c.(6379-6381)CGCfs	p.R2127fs	CABIN1_uc002zzj.1_Frame_Shift_Del_p.R2048fs|CABIN1_uc002zzl.1_Frame_Shift_Del_p.R2127fs|CABIN1_uc010gul.1_Frame_Shift_Del_p.R65fs	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2127	Required for interaction with calcineurin (By similarity).				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						CTAAGTCCCGCCCCCTGCCCA	0.687													-	24573647	C	-	24573647	7	5	131	1	0	1	0	1	0	0	0	0	2528	726	26	0	6519	0	CABIN1	22	24573647	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	1135159	24573647	26730919	2057	78232											
UPB1	51733	broad.mit.edu	37	chr22	24911250	24911250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcggtgaacatttgctacGggcggcaccaccccctcaac	10	16	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:24911250G>A	uc003aaf.2	+	6	824	c.703G>A	c.(703-705)GGG>AGG	p.G235R	UPB1_uc003aae.2_Missense_Mutation_p.G167R|UPB1_uc011ajt.1_Missense_Mutation_p.G235R	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	beta-ureidopropionase	235	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			ovary(2)	2	Colorectal(2;0.0339)					CATTTGCTACGGGCGGCACCA	0.557													A	24911250	G	A	24911250	3	1	131	1	0	0	0	0	1	0	0	0	16999	1116	39	1	725	1	UPB1	22	24911250	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	337603	24911250	26393316	2058	78233											
CRYBB1	1414	broad.mit.edu	37	chr22	27008142	27008142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccctggaagttttccagttCgaagaccaccagctgcagga	11	12	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:27008142C>T	uc003acy.1	-	3	263	c.193G>A	c.(193-195)GAA>AAA	p.E65K		NM_001887	NP_001878	P53674	CRBB1_HUMAN	crystallin, beta B1	65	Beta/gamma crystallin 'Greek key' 1.				visual perception		structural constituent of eye lens			ovary(1)	1						TTTTCCAGTTCGAAGACCACC	0.537													T	27008142	C	T	27008142	3	4	131	1	0	0	0	0	1	0	0	0	3910	893	31	1	581	1	CRYBB1	22	27008142	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2096892	27008142	24296424	2059	78234											
TBC1D10A	83874	broad.mit.edu	37	chr22	30690039	30690039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggctgaggtgcttgtgggCcaccggcgacaccttctgca	14	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:30690039C>T	uc011akt.1	-	7	790	c.766G>A	c.(766-768)GCC>ACC	p.A256T	GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_Missense_Mutation_p.A114T|TBC1D10A_uc003ahj.3_Missense_Mutation_p.A168T|TBC1D10A_uc010gvu.2_Missense_Mutation_p.A263T|TBC1D10A_uc003ahk.3_Missense_Mutation_p.A256T	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	256	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			ovary(1)	1						TGCTTGTGGGCCACCGGCGAC	0.602													T	30690039	C	T	30690039	3	4	131	1	0	0	0	0	1	0	0	0	15595	739	26	2	772	2	TBC1D10A	22	30690039	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3681897	30690039	20614527	2060	78235											
PES1	23481	broad.mit.edu	37	chr22	30980630	30980630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggcacttgccagtccgcGggaaggtggaaaacaggaag	16	9	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:30980630G>A	uc003aij.1	-	5	517	c.443C>T	c.(442-444)CCG>CTG	p.P148L	PES1_uc003aik.1_Missense_Mutation_p.P148L|PES1_uc003ail.1_Missense_Mutation_p.P148L|PES1_uc003aim.1_Missense_Mutation_p.P148L|PES1_uc003ain.1_Missense_Mutation_p.P9L|PES1_uc003aio.1_Missense_Mutation_p.P9L	NM_014303	NP_055118	O00541	PESC_HUMAN	pescadillo homolog 1, containing BRCT domain	148	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						GCCAGTCCGCGGGAAGGTGGA	0.607													A	30980630	G	A	30980630	3	1	131	1	0	0	0	0	1	0	0	0	11733	1116	39	1	1367	1	PES1	22	30980630	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	290591	30980630	20323936	2061	78236											
OSBP2	23762	broad.mit.edu	37	chr22	31289120	31289120	+	Frame_Shift_Del	DEL	C	C	-													tggtctcaggtgagccaccaCcccccctcagctgcgcacta							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:31289120delC	uc003aiy.1	+	9	1985	c.1881delC	c.(1879-1881)CACfs	p.H627fs	OSBP2_uc011ala.1_Frame_Shift_Del_p.H461fs|OSBP2_uc010gwc.1_Frame_Shift_Del_p.H454fs|OSBP2_uc011alb.1_Frame_Shift_Del_p.H578fs|OSBP2_uc003aiz.1_Frame_Shift_Del_p.H626fs|OSBP2_uc003aja.1_Frame_Shift_Del_p.H260fs|OSBP2_uc011alc.1_Frame_Shift_Del_p.H369fs|OSBP2_uc003ajb.2_Frame_Shift_Del_p.H172fs|OSBP2_uc011ald.1_Frame_Shift_Del_p.H171fs|OSBP2_uc010gwd.1_Frame_Shift_Del_p.H172fs	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	627					lipid transport	membrane	lipid binding			breast(1)|skin(1)	2						TGAGCCACCACCCCCCCTCAG	0.597													-	31289120	C	-	31289120	7	5	131	1	0	1	0	1	0	0	0	0	11274	506	18	0	1915	0	OSBP2	22	31289120	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	308490	31289120	20015446	2062	78237											
SELM	140606	broad.mit.edu	37	chr22	31501001	31501001	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctctgggggcttcgcgggCgcccacacgtactcgggggg	17	14	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:31501001C>T	uc011ali.1	-	6	453	c.393G>A	c.(391-393)GCG>GCA	p.A131A	SELM_uc011alj.1_RNA|INPP5J_uc010gwf.2_5'Flank	NM_080430	NP_536355	Q8WWX9	SELM_HUMAN	selenoprotein M precursor	131						endoplasmic reticulum|Golgi apparatus|nucleus|perinuclear region of cytoplasm					0						GCTTCGCGGGCGCCCACACGT	0.667													T	31501001	C	T	31501001	2	4	131	1	0	0	0	0	0	0	0	1	14017	755	27	1		1	SELM	22	31501001	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	211881	31501001	19803565	2063	78238											
RASD2	23551	broad.mit.edu	37	chr22	35943100	35943100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcaaccaccccttccccGccatgcgcaggctgtccatc	8	20	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:35943100G>A	uc003anx.2	+	2	449	c.244G>A	c.(244-246)GCC>ACC	p.A82T	RASD2_uc003any.2_Missense_Mutation_p.A82T	NM_014310	NP_055125	Q96D21	RHES_HUMAN	RASD family, member 2 precursor	82					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			lung(2)|skin(1)	3						CCCCTTCCCCGCCATGCGCAG	0.642													A	35943100	G	A	35943100	3	1	131	1	0	0	0	0	1	0	0	0	13067	1087	38	1	246	1	RASD2	22	35943100	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	4442099	35943100	15361466	2064	78239											
TMPRSS6	164656	broad.mit.edu	37	chr22	37482393	37482393	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaggcccttcttccagacGaccgccatgatggcccccga	10	17	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:37482393G>A	uc003aqs.1	-	8	1044	c.930C>T	c.(928-930)GTC>GTT	p.V310V	TMPRSS6_uc003aqt.1_Silent_p.V301V|TMPRSS6_uc003aqu.2_Silent_p.V301V	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	310	CUB 1.|Extracellular (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)|skin(1)	6						TCTTCCAGACGACCGCCATGA	0.672													A	37482393	G	A	37482393	2	1	131	1	0	0	0	0	0	0	0	1	16248	1045	37	1		1	TMPRSS6	22	37482393	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1539293	37482393	13822173	2065	78240											
ELFN2	114794	broad.mit.edu	37	chr22	37769234	37769234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccatgtacacctcctcccGgtggtgcttcttgtagggcc	12	14	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:37769234G>A	uc003asq.3	-	3	3127	c.2341C>T	c.(2341-2343)CGG>TGG	p.R781W		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	781	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					ACCTCCTCCCGGTGGTGCTTC	0.602													A	37769234	G	A	37769234	3	1	131	1	0	0	0	0	1	0	0	0	5058	1115	39	1	125	1	ELFN2	22	37769234	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	286841	37769234	13535332	2066	78241											
ELFN2	114794	broad.mit.edu	37	chr22	37771065	37771065	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctggcgaggctggcaaaGgtggcaccgtccaggcggct	18	11	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:37771065G>T	uc003asq.3	-	3	1296	c.510C>A	c.(508-510)ACC>ACA	p.T170T		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	170	LRR 5.|Extracellular (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					GGCTGGCAAAGGTGGCACCGT	0.647													T	37771065	G	T	37771065	2	4	131	1	0	0	0	0	0	0	0	1	5058	987	35	5		5	ELFN2	22	37771065	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1831	37771065	13533501	2067	78242											
SOX10	6663	broad.mit.edu	37	chr22	38373922	38373922	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgggggagccctctcctgGgtgccggtggtccaagtggg	18	11	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:38373922G>T	uc003aun.1	-	3	927	c.649C>A	c.(649-651)CCA>ACA	p.P217T	POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Missense_Mutation_p.P217T	NM_006941	NP_008872	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	217						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity				0	Melanoma(58;0.045)					CCCTCTCCTGGGTGCCGGTGG	0.687													T	38373922	G	T	38373922	3	4	131	1	0	0	0	0	1	0	0	0	14941	1232	43	5	759	5	SOX10	22	38373922	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	602857	38373922	12930644	2068	78243											
KCNJ4	3761	broad.mit.edu	37	chr22	38824088	38824088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgacgaagcggttgcggCgcttccgccggggcacgtgg	17	12	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:38824088C>T	uc003avs.1	-	2	147	c.50G>A	c.(49-51)CGC>CAC	p.R17H	KCNJ4_uc003avt.1_Missense_Mutation_p.R17H	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	17	Cytoplasmic (By similarity).			KR -> NG (in Ref. 3; AAC60632).	synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					GCGGTTGCGGCGCTTCCGCCG	0.642													T	38824088	C	T	38824088	3	4	131	1	0	0	0	0	1	0	0	0	8053	768	27	1	1291	1	KCNJ4	22	38824088	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	450166	38824088	12480478	2069	78244											
CBX6	23466	broad.mit.edu	37	chr22	39262729	39262729	+	Frame_Shift_Del	DEL	G	G	-													gccgggggacggggctaccaGgggggcgggcggaggcttgt							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:39262729delG	uc003awl.2	-	5	787	c.724delC	c.(724-726)CTGfs	p.L242fs		NM_014292	NP_055107	O95503	CBX6_HUMAN	chromobox homolog 6	242					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex					0	Melanoma(58;0.04)					GGGGCTACCAGGGGGGCGGGC	0.687													-	39262729	G	-	39262729	7	5	131	1	0	1	0	1	0	0	0	0	2722	991	35	0	518	0	CBX6	22	39262729	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	438641	39262729	12041837	2070	78245											
CACNA1I	8911	broad.mit.edu	37	chr22	40055783	40055783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctccctctactttgtcGccctcatgaccttcggcaac	8	17	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:40055783G>A	uc003ayc.2	+	14	2530	c.2530G>A	c.(2530-2532)GCC>ACC	p.A844T	CACNA1I_uc003ayd.2_Missense_Mutation_p.A809T|CACNA1I_uc003aye.2_Missense_Mutation_p.A759T|CACNA1I_uc003ayf.2_Missense_Mutation_p.A724T	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	844	Helical; Name=S6 of repeat II; (Potential).|II.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CTACTTTGTCGCCCTCATGAC	0.582													A	40055783	G	A	40055783	3	1	131	1	0	0	0	0	1	0	0	0	2546	1087	38	1	2584	1	CACNA1I	22	40055783	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	793054	40055783	11248783	2071	78246											
EP300	2033	broad.mit.edu	37	chr22	41572350	41572350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgcgatctgatggatggtCgggatgcgtttctcacgctg	14	10	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:41572350C>T	uc003azl.3	+	30	5274	c.4879C>T	c.(4879-4881)CGG>TGG	p.R1627W		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1627	Binding region for E1A adenovirus.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.R1627W(1)		haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						GATGGATGGTCGGGATGCGTT	0.577			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				T	41572350	C	T	41572350	3	4	131	1	0	0	0	0	1	0	0	0	5148	875	31	1	4997	1	EP300	22	41572350	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1516567	41572350	9732216	2072	78247											
RANGAP1	5905	broad.mit.edu	37	chr22	41650492	41650492	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctcctcgtcctcGtcatcactgcagaaagagct	6	17	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:41650492G>A	uc003azs.2	-	10	2550	c.1080C>T	c.(1078-1080)GAC>GAT	p.D360D	RANGAP1_uc003azt.2_Silent_p.D360D|RANGAP1_uc003azu.2_Silent_p.D360D|RANGAP1_uc003azr.2_5'Flank|RANGAP1_uc010gyk.2_5'Flank|RANGAP1_uc011aoz.1_Silent_p.D305D	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	360	Asp/Glu-rich (highly acidic).|Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						cctcgtcctcGTCATCACTGC	0.294													A	41650492	G	A	41650492	2	1	131	1	0	0	0	0	0	0	0	1	13033	1136	40	1		1	RANGAP1	22	41650492	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	78142	41650492	9654074	2073	78248											
ZC3H7B	23264	broad.mit.edu	37	chr22	41745305	41745305	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctgctgcagcagtactcaGgtgaggggcaggcggtgcag	19	9	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:41745305G>T	uc003azw.2	+	16	2164	c.1948G>T	c.(1948-1950)GGC>TGC	p.G650C	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	666					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						GCAGTACTCAGGTGAGGGGCA	0.672													T	41745305	G	T	41745305	3	4	131	1	0	0	0	0	1	0	0	0	17570	1014	35	5	2006	5	ZC3H7B	22	41745305	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	94813	41745305	9559261	2074	78249											
PHF5A	84844	broad.mit.edu	37	chr22	41864625	41864625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacaccagcctgcttgcgGcaaaagatcaaatcaggatg	9	12	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:41864625G>A	uc003bab.2	-	1	84	c.33C>T	c.(31-33)TGC>TGT	p.C11C	ACO2_uc003bac.2_5'Flank|ACO2_uc003bad.2_5'Flank	NM_032758	NP_116147	Q7RTV0	PHF5A_HUMAN	PHD-finger 5A	11					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity				0						CCTGCTTGCGGCAAAAGATCA	0.577													A	41864625	G	A	41864625	2	1	131	1	0	0	0	0	0	0	0	1	11837	1195	42	2		2	PHF5A	22	41864625	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	119320	41864625	9439941	2075	78250											
SREBF2	6721	broad.mit.edu	37	chr22	42271637	42271637	+	Frame_Shift_Del	DEL	C	C	-													tcagaatgtccttctgatgtCccccccagcctctgactcag					rs79727196		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:42271636_42271636TC>T	uc003bbi.3	+	6	1463	c.1294_1294TC>T	c.(1294-1296)tccfs	p.S432fs	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	432	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCTTCTGATGTCCCCCCCAGC	0.522													-	42271637	C	-	42271637	7	5	131	1	0	1	0	1	0	0	0	0	15141	855	30	0	1321	0	SREBF2	22	42271637	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	407012	42271637	9032929	2076	78251											
POLDIP3	84271	broad.mit.edu	37	chr22	42988010	42988011	+	Frame_Shift_Ins	INS	-	-	T													atgcggtgatggcatcgtccINStttttcacaaacaccacctc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:42988010_42988011insT	uc003bcu.2	-	7	1070_1071	c.971_972insA	c.(970-972)AAGfs	p.K324fs	POLDIP3_uc011app.1_Frame_Shift_Ins_p.K245fs|POLDIP3_uc003bcv.2_Frame_Shift_Ins_p.K295fs|POLDIP3_uc011apq.1_Frame_Shift_Ins_p.K341fs|POLDIP3_uc010gza.2_RNA|POLDIP3_uc011apr.1_RNA|POLDIP3_uc010gzb.1_Intron	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN	DNA polymerase delta interacting protein 3	324	RRM.				positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding				0						TGGCATCGTCCTTTTTCACAAA	0.54													T	42988011	-	T	42988010	7	5	131	1	0	1	1	0	0	0	0	0	12195	680	24	0	305	0	POLDIP3	22	42988010	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	716373	42988010	8316556	2077	78252	388	2									
POLDIP3	84271	broad.mit.edu	37	chr22	42988011	42988012	+	Frame_Shift_Ins	INS	-	-	T													tgcggtgatggcatcgtcctINSttttcacaaacaccacctcc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:42988010_42988011C>CT	uc011apq.2	-	6	1121_1122	c.1022_1023G>AG	c.(1021-1023)aagfs	p.K341fs	POLDIP3_uc011app.2_Frame_Shift_Ins_p.K245fs|POLDIP3_uc011apr.2_Non-coding_Transcript|POLDIP3_uc003bcu.3_Frame_Shift_Ins_p.K324fs|POLDIP3_uc003bcv.3_Frame_Shift_Ins_p.K295fs|POLDIP3_uc010gza.3_Non-coding_Transcript	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 3 (POLDIP3), transcript variant 1, mRNA.	324	RRM.				positive regulation of translation	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						TGGCATCGTCCTTTTTCACAAA	0.54													T	42988012	-	T	42988011	7	5	131	1	0	1	1	0	0	0	0	0	12195	1609	56	0	306	0	POLDIP3	22	42988011	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	42988011	8316555	2078	78253	388	2									
A4GALT	53947	broad.mit.edu	37	chr22	43089474	43089474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctcccagcgcccctgcaCggccgcgtaccagtcggcca	13	19	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:43089474C>T	uc003bdb.2	-	3	745	c.484G>A	c.(484-486)GTG>ATG	p.V162M	A4GALT_uc010gzd.2_Missense_Mutation_p.V162M	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	162	Lumenal (Potential).				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			central_nervous_system(2)	2						CGCCCCTGCACGGCCGCGTAC	0.657													T	43089474	C	T	43089474	3	4	131	1	0	0	0	0	1	0	0	0	6	536	19	1	581	1	A4GALT	22	43089474	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	101463	43089474	8215092	2079	78254											
EFCAB6	64800	broad.mit.edu	37	chr22	44004420	44004420	+	Frame_Shift_Del	DEL	C	C	-													aatatcaaaaccgtacagtgCgttctttatgtcccggcgtc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:44004420delC	uc003bdy.1	-	22	2838	c.2623delG	c.(2623-2625)GCAfs	p.A875fs	EFCAB6_uc003bdz.1_Frame_Shift_Del_p.A723fs|EFCAB6_uc010gzi.1_Frame_Shift_Del_p.A723fs|EFCAB6_uc010gzj.1_Intron	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	875	EF-hand 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				CCGTACAGTGCGTTCTTTATG	0.433													-	44004420	C	-	44004420	7	5	131	1	0	1	0	1	0	0	0	0	4939	768	27	0	1926	0	EFCAB6	22	44004420	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	914946	44004420	7300146	2080	78255											
C22orf9	23313	broad.mit.edu	37	chr22	45599828	45599828	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctagccaccagctccacacaGaccatctctccttcccctac	3	21	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:45599828G>T	uc003bfx.1	-	6	621	c.555C>A	c.(553-555)GTC>GTA	p.V185V	C22orf9_uc010gzw.1_Silent_p.V37V|C22orf9_uc003bfv.1_Silent_p.V194V|C22orf9_uc003bfw.1_Silent_p.V190V|C22orf9_uc010gzx.2_Silent_p.V167V|MIR1249_hsa-mir-1249|MI0006384_5'Flank	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	hypothetical protein LOC23313 isoform b	185							protein binding				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)		GCTCCACACAGACCATCTCTC	0.582													T	45599828	G	T	45599828	2	4	131	1	0	0	0	0	0	0	0	1	2151	929	33	5		5	C22orf9	22	45599828	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1595408	45599828	5704738	2081	78256											
FAM118A	55007	broad.mit.edu	37	chr22	45719261	45719261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaaagtgacaaaggacCgggacctgttggttgtcgcc	16	8	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:45719261C>T	uc003bfz.3	+	4	869	c.253C>T	c.(253-255)CGG>TGG	p.R85W	FAM118A_uc003bga.3_Missense_Mutation_p.R85W	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	85						integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GACAAAGGACCGGGACCTGTT	0.587													T	45719261	C	T	45719261	3	4	131	1	0	0	0	0	1	0	0	0	5411	643	23	1	259	1	FAM118A	22	45719261	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	119433	45719261	5585305	2082	78257											
CELSR1	9620	broad.mit.edu	37	chr22	46760452	46760452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctagcaagcctggctgcGcccccgctctcctggtccgg	12	18	1	0	rs141928741		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:46760452G>A	uc003bhw.1	-	33	8736	c.8736C>T	c.(8734-8736)GGC>GGT	p.G2912G		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2912	Cytoplasmic (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCCTGGCTGCGCCCCCGCTCT	0.692													A	46760452	G	A	46760452	2	1	131	1	0	0	0	0	0	0	0	1	3221	1074	38	1		1	CELSR1	22	46760452	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1041191	46760452	4544114	2083	78258											
TTLL8	164714	broad.mit.edu	37	chr22	50469119	50469120	+	Frame_Shift_Ins	INS	-	-	G													taagggtgccagcaaggccaINSgggggagccccttctcttcc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:50469119_50469120insG	uc011ark.1	-	12	1942_1943	c.1942_1943insC	c.(1942-1944)CTGfs	p.L648fs		NM_001080447	NP_001073916			tubulin tyrosine ligase-like family, member 8											ovary(2)	2		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CAGCAAGGCCAGGGGGAGCCCC	0.703													G	50469120	-	G	50469119	7	5	131	1	0	1	1	0	0	0	0	0	16730	188	7	0	572	0	TTLL8	22	50469119	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	3708667	50469119	835447	2084	78259											
SBF1	6305	broad.mit.edu	37	chr22	50885769	50885769	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtcaaagaaggccttctcGtccacagtcttaggggcacc	10	13	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chr22:50885769G>A	uc003blh.2	-	40	5760	c.5565C>T	c.(5563-5565)GAC>GAT	p.D1855D	SBF1_uc003ble.2_Silent_p.D319D|SBF1_uc003blf.2_Silent_p.D331D|SBF1_uc011arx.1_Silent_p.D1493D	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1829	PH.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		AGGCCTTCTCGTCCACAGTCT	0.652													A	50885769	G	A	50885769	2	1	131	1	0	0	0	0	0	0	0	1	13858	1136	40	1		1	SBF1	22	50885769	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	416650	50885769	418797	2085	78260											
PPP2R3B	28227	broad.mit.edu	37	chrX	306252	306252	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgtgcccccacgcaccGtggtcattgtgccgcgccag	11	19	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:306252G>A	uc004cpg.2	-	7	1236	c.1035C>T	c.(1033-1035)CAC>CAT	p.H345H	PPP2R3B_uc011mha.1_Silent_p.H184H	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	345					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCCACGCACCGTGGTCATTGT	0.667													A	306252	G	A	306252	2	1	131	1	0	0	0	0	0	0	0	1	12389	1159	40	1		1	PPP2R3B	23	306252	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08		306252	154964308	2086	78261											
SHOX	6473	broad.mit.edu	37	chrX	601806	601806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcaacatgggagccttacGgatgcctttccaacaggtag	11	11	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:601806G>A	uc004cph.1	+	5	1308	c.617G>A	c.(616-618)CGG>CAG	p.R206Q	SHOX_uc004cpi.2_Missense_Mutation_p.R206Q	NM_000451	NP_000442	O15266	SHOX_HUMAN	short stature homeobox isoform SHOXa	206					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAGCCTTACGGATGCCTTTC	0.567													A	601806	G	A	601806	3	1	131	1	0	0	0	0	1	0	0	0	14288	1116	39	1	631	1	SHOX	23	601806	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	295554	601806	154668754	2087	78262											
ARSF	416	broad.mit.edu	37	chrX	3002316	3002316	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcttgaactgcgactccCgaagtgaccagtgccaccat	10	13	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:3002316C>T	uc004cre.1	+	6	660	c.439C>T	c.(439-441)CGA>TGA	p.R147*	ARSF_uc004crf.1_Nonsense_Mutation_p.R147*	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	147						extracellular region	arylsulfatase activity|metal ion binding			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGCGACTCCCGAAGTGACCA	0.478													T	3002316	C	T	3002316	4	4	131	1	0	0	0	0	0	1	0	0	991	644	23	1	457	1	ARSF	23	3002316	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	2400510	3002316	152268244	2088	78263											
MXRA5	25878	broad.mit.edu	37	chrX	3235295	3235295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgatgcgcgcgttggctgCtgcacgctgcacgttcagct	14	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:3235295C>T	uc004crg.3	-	6	6584	c.6427G>A	c.(6427-6429)GCA>ACA	p.A2143T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2143						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCGTTGGCTGCTGCACGCTGC	0.711													T	3235295	C	T	3235295	3	4	131	1	0	0	0	0	1	0	0	0	10003	797	28	2	2067	2	MXRA5	23	3235295	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	232979	3235295	152035265	2089	78264											
MXRA5	25878	broad.mit.edu	37	chrX	3240108	3240108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtattaactgtgttatcCacccaagctgtaggaaccag	11	9	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:3240108C>T	uc004crg.3	-	5	3775	c.3618G>A	c.(3616-3618)GTG>GTA	p.V1206V		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1206						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGTGTTATCCACCCAAGCTG	0.458													T	3240108	C	T	3240108	2	4	131	1	0	0	0	0	0	0	0	1	10003	581	21	4		4	MXRA5	23	3240108	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4813	3240108	152030452	2090	78265											
NLGN4X	57502	broad.mit.edu	37	chrX	5821129	5821129	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaacgtacccagttttggcGaagttcgtccagtaggtcat	11	9	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:5821129G>A	uc010ndh.2	-	5	2091	c.1590C>T	c.(1588-1590)TTC>TTT	p.F530F	NLGN4X_uc004crp.2_Silent_p.F550F|NLGN4X_uc004crq.2_Silent_p.F530F|NLGN4X_uc010ndi.2_Silent_p.F567F|NLGN4X_uc004crr.2_Silent_p.F530F|NLGN4X_uc010ndj.2_Silent_p.F530F	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	530	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						CAGTTTTGGCGAAGTTCGTCC	0.512													A	5821129	G	A	5821129	2	1	131	1	0	0	0	0	0	0	0	1	10464	1049	37	1		1	NLGN4X	23	5821129	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2581021	5821129	149449431	2091	78266											
STS	412	broad.mit.edu	37	chrX	7267953	7267953	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccatctggaaggccttttTcttcacccccaacttcaacc	4	16	4	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:7267953T>C	uc004cry.3	+	10	1648	c.1403T>C	c.(1402-1404)TTC>TCC	p.F468S		NM_000351	NP_000342	P08842	STS_HUMAN	steryl-sulfatase precursor	468	Lumenal.				female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			central_nervous_system(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	AAGGCCTTTTTCTTCACCCCC	0.483									Ichthyosis				C	7267953	T	C	7267953	3	2	131	1	0	0	0	0	1	0	0	0	15331	1783	62	3	1441	3	STS	23	7267953	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	1446824	7267953	148002607	2092	78267											
SHROOM2	357	broad.mit.edu	37	chrX	9900722	9900722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaaggccactgtctgtgaGcgtggaagccagcatgtgag	15	10	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:9900722G>A	uc004csu.1	+	6	3489	c.3399G>A	c.(3397-3399)GAG>GAA	p.E1133E	SHROOM2_uc004csv.2_5'UTR|SHROOM2_uc011mic.1_5'UTR|SHROOM2_uc004csw.1_5'UTR	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	1133					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				CTGTCTGTGAGCGTGGAAGCC	0.657													A	9900722	G	A	9900722	2	1	131	1	0	0	0	0	0	0	0	1	14294	962	34	2		2	SHROOM2	23	9900722	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2632769	9900722	145369838	2093	78268											
WWC3	55841	broad.mit.edu	37	chrX	10094192	10094192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccactggactcgggcaCgcccaacacttactgctcca	8	19	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:10094192C>T	uc004csx.3	+	15	2150	c.1952C>T	c.(1951-1953)ACG>ATG	p.T651M	WWC3_uc010nds.2_Missense_Mutation_p.T315M|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	651	C2.									ovary(4)	4						GACTCGGGCACGCCCAACACT	0.597													T	10094192	C	T	10094192	3	4	131	1	0	0	0	0	1	0	0	0	17410	536	19	1	2006	1	WWC3	23	10094192	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	193470	10094192	145176368	2094	78269											
TMSL3	7117	broad.mit.edu	37	chrX	12994449	12994449	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactgaagaagacagagacGcaagagaaaaatccactgcc	9	9	0	5			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:12994449G>A	uc004cvf.2	+	2	147	c.69G>A	c.(67-69)ACG>ACA	p.T23T		NM_021109	NP_066932			thymosin, beta 4												0		all_cancers(2;6.48e-24)|all_epithelial(2;3.86e-25)|Colorectal(2;8.52e-12)|all_lung(2;3.73e-07)|Lung NSC(2;7.99e-07)|Renal(2;0.0243)|Hepatocellular(203;0.0411)		Epithelial(2;5.28e-11)|OV - Ovarian serous cystadenocarcinoma(123;8.9e-10)|all cancers(2;3.21e-09)|STAD - Stomach adenocarcinoma(1;0.0201)		AGACAGAGACGCAAGAGAAAA	0.547													A	12994449	G	A	12994449	2	1	131	1	0	0	0	0	0	0	0	1	16256	1074	38	1		1	TMSL3	23	12994449	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	2900257	12994449	142276111	2095	78270											
TXLNG	55787	broad.mit.edu	37	chrX	16850848	16850849	+	Frame_Shift_Ins	INS	-	-	AG													agaagctgatgaaaaacatcINSagagagagagagagtttgta							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:16850848_16850849insAG	uc004cxq.1	+	6	1018_1019	c.967_968insAG	c.(967-969)CAGfs	p.Q323fs	TXLNG_uc010ney.1_Frame_Shift_Ins_p.Q191fs|TXLNG_uc004cxr.1_5'Flank	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	323	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1						TGAAAAACATCAGAGAGAGAGA	0.386													AG	16850849	-	AG	16850848	7	5	131	1	0	1	1	0	0	0	0	0	16786	827	29	0	989	0	TXLNG	23	16850848	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	3856399	16850848	138419712	2096	78271	389	2									
TXLNG	55787	broad.mit.edu	37	chrX	16850849	16850850	+	Frame_Shift_Ins	INS	-	-	AG													gaagctgatgaaaaacatcaINSgagagagagagagtttgtaa							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:16850848_16850849C>CAG	uc004cxq.2	+	5	1023_1024	c.967_968C>CAG	c.(967-969)cagfs	p.Q323fs	TXLNG_uc010ney.2_Frame_Shift_Ins_p.Q191fs|TXLNG_uc004cxr.1_5'Flank	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	Homo sapiens taxilin gamma (TXLNG), transcript variant 1, mRNA.	323					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						TGAAAAACATCAGAGAGAGAGA	0.386													AG	16850850	-	AG	16850849	7	5	131	1	0	1	1	0	0	0	0	0	16786	188	7	0	990	0	TXLNG	23	16850849	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	16850849	138419711	2097	78272	389	2									
TXLNG	55787	broad.mit.edu	37	chrX	16859880	16859880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctccggccatcgagtcGgttgactaagatgaggtgtg	14	9	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:16859880G>A	uc004cxq.1	+	10	1629	c.1578G>A	c.(1576-1578)TCG>TCA	p.S526S	TXLNG_uc010ney.1_Silent_p.S394S	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	526					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1						CCATCGAGTCGGTTGACTAAG	0.478													A	16859880	G	A	16859880	2	1	131	1	0	0	0	0	0	0	0	1	16786	1103	39	1		1	TXLNG	23	16859880	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	9031	16859880	138410680	2098	78273											
RBBP7	5931	broad.mit.edu	37	chrX	16870926	16870926	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagggattgaatgagagGcagttgacttcggcagtgtg	16	5	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:16870926G>A	uc004cxt.2	-	7	1189	c.831C>T	c.(829-831)TGC>TGT	p.C277C	RBBP7_uc004cxs.1_Silent_p.C321C|RBBP7_uc004cxu.2_Silent_p.C268C|RBBP7_uc010nez.2_3'UTR	NM_002893	NP_002884	Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	277	WD 5.				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			upper_aerodigestive_tract(1)|ovary(1)	2	Hepatocellular(33;0.0997)					TGAATGAGAGGCAGTTGACTT	0.478													A	16870926	G	A	16870926	2	1	131	1	0	0	0	0	0	0	0	1	13104	1195	42	2		2	RBBP7	23	16870926	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	11046	16870926	138399634	2099	78274											
RAI2	10742	broad.mit.edu	37	chrX	17818678	17818678	+	Frame_Shift_Del	DEL	C	C	-													tgcatttcccatggactcttCcccttggctgttgatgtcat					rs35491582		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:17818677_17818677TC>T	uc022btm.1	-	0	1454	c.1454_1454GA>A	c.(1453-1455)gaafs	p.E485fs	RAI2_uc004cyf.3_Frame_Shift_Del_p.E485fs|RAI2_uc004cyg.3_Frame_Shift_Del_p.E485fs|RAI2_uc011miy.2_Frame_Shift_Del_p.E435fs|RAI2_uc022btl.1_Frame_Shift_Del_p.E485fs|RAI2_uc004cyh.4_Frame_Shift_Del_p.E485fs|RAI2_uc010nfa.3_Frame_Shift_Del_p.E485fs	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	485					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CATGGACTCTTCCCCTTGGCT	0.478													-	17818678	C	-	17818678	7	5	131	1	0	1	0	1	0	0	0	0	13009	864	30	0	143	0	RAI2	23	17818678	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	947752	17818678	137451882	2100	78275											
ZNF645	158506	broad.mit.edu	37	chrX	22291518	22291518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggctcatatcaaacgccGccataagagagctcgaaaac	8	12	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:22291518G>A	uc004dai.1	+	1	459	c.410G>A	c.(409-411)CGC>CAC	p.R137H		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	137	C2H2-type.					intracellular	zinc ion binding			lung(1)|pancreas(1)	2						ATCAAACGCCGCCATAAGAGA	0.443													A	22291518	G	A	22291518	3	1	131	1	0	0	0	0	1	0	0	0	18058	1087	38	1	412	1	ZNF645	23	22291518	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	4472840	22291518	132979042	2101	78276											
POLA1	5422	broad.mit.edu	37	chrX	24750565	24750565	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctccctttcagtcacacTtctgtggtatgtattttttt	6	10	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:24750565T>C	uc004dbl.2	+	16	1770	c.1747T>C	c.(1747-1749)TTC>CTC	p.F583L	POLA1_uc004dbn.2_Missense_Mutation_p.F447L	NM_016937	NP_058633	P09884	DPOLA_HUMAN	DNA-directed DNA polymerase alpha 1	583					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)	TCAGTCACACTTCTGTGGTAT	0.368													C	24750565	T	C	24750565	3	2	131	1	0	0	0	0	1	0	0	0	12187	1609	56	3	1809	3	POLA1	23	24750565	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	2459047	24750565	130519995	2102	78277											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29973787	29973787	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctccataggcaatcagcaTacctactgtaacatccctat	4	14	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:29973787T>C	uc004dby.2	+	11	2449	c.1941T>C	c.(1939-1941)CAT>CAC	p.H647H		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	647	Cytoplasmic (Potential).				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						GCAATCAGCATACCTACTGTA	0.517													C	29973787	T	C	29973787	2	2	131	1	0	0	0	0	0	0	0	1	7661	1403	49	3		3	IL1RAPL1	23	29973787	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	5223222	29973787	125296773	2103	78278											
TAB3	257397	broad.mit.edu	37	chrX	30870981	30870981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attaacttcagacttcaaccGctctagctcctctttctcaa	3	14	5	1	rs147799245		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:30870981G>A	uc004dcj.2	-	7	2287	c.1624C>T	c.(1624-1626)CGG>TGG	p.R542W	TAB3_uc004dck.2_Missense_Mutation_p.R542W|TAB3_uc010ngl.2_Missense_Mutation_p.R542W	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	542	Potential.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			ovary(1)	1						GACTTCAACCGCTCTAGCTCC	0.463													A	30870981	G	A	30870981	3	1	131	1	0	0	0	0	1	0	0	0	15494	1086	38	1	534	1	TAB3	23	30870981	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	897194	30870981	124399579	2104	78279											
CXorf22	170063	broad.mit.edu	37	chrX	35989784	35989784	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccctcactctcagaagcGgaaatagaagaggagctgtc	10	11	3	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:35989784G>A	uc004ddj.2	+	12	2111	c.2052G>A	c.(2050-2052)GCG>GCA	p.A684A	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	684										large_intestine(1)|lung(1)|ovary(1)	3						TCTCAGAAGCGGAAATAGAAG	0.418													A	35989784	G	A	35989784	2	1	131	1	0	0	0	0	0	0	0	1	4102	1103	39	1		1	CXorf22	23	35989784	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	5118803	35989784	119280776	2105	78280											
FAM47C	442444	broad.mit.edu	37	chrX	37027114	37027114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactccggtgtccagtctcCgcccggagcctccagagact	11	16	1	2	rs143691874		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:37027114C>T	uc004ddl.1	+	1	645	c.631C>T	c.(631-633)CGC>TGC	p.R211C		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	211										ovary(3)	3						GTCCAGTCTCCGCCCGGAGCC	0.647													T	37027114	C	T	37027114	3	4	131	1	0	0	0	0	1	0	0	0	5571	652	23	1	633	1	FAM47C	23	37027114	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1037330	37027114	118243446	2106	78281											
FAM47C	442444	broad.mit.edu	37	chrX	37027775	37027775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatctctgcctggagcctcCcaagactcgcggatctcatc	8	17	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:37027775C>T	uc004ddl.1	+	1	1306	c.1292C>T	c.(1291-1293)CCC>CTC	p.P431L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	431										ovary(3)	3						CTGGAGCCTCCCAAGACTCGC	0.612													T	37027775	C	T	37027775	3	4	131	1	0	0	0	0	1	0	0	0	5571	623	22	4	1294	4	FAM47C	23	37027775	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	661	37027775	118242785	2107	78282											
USP9X	8239	broad.mit.edu	37	chrX	41025387	41025387	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttcaaagctgtgaattgtCgagaaggaaaactagtagca	10	6	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:41025387C>T	uc004dfb.2	+	16	2881	c.2248C>T	c.(2248-2250)CGA>TGA	p.R750*	USP9X_uc004dfc.2_Nonsense_Mutation_p.R750*	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	750					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						TGTGAATTGTCGAGAAGGAAA	0.373													T	41025387	C	T	41025387	4	4	131	1	0	0	0	0	0	1	0	0	17087	876	31	1	2306	1	USP9X	23	41025387	Nonsense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3997612	41025387	114245173	2108	78283											
USP9X	8239	broad.mit.edu	37	chrX	41075795	41075795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccattgagagaagtgtacGgaaacagaacgtacaattca	10	7	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:41075795G>A	uc004dfb.2	+	35	6608	c.5975G>A	c.(5974-5976)CGG>CAG	p.R1992Q	USP9X_uc004dfc.2_Missense_Mutation_p.R1992Q	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1992					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						AGAAGTGTACGGAAACAGAAC	0.368													A	41075795	G	A	41075795	3	1	131	1	0	0	0	0	1	0	0	0	17087	1116	39	1	6109	1	USP9X	23	41075795	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	50408	41075795	114194765	2109	78284											
NDUFB11	54539	broad.mit.edu	37	chrX	47003890	47003890	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttctcatacaagttttcGtcctcgggttctgggtcctc	8	13	2	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:47003890G>A	uc004dhd.2	-	1	720	c.189C>T	c.(187-189)GAC>GAT	p.D63D	NDUFB11_uc004dhc.2_Silent_p.D63D|RBM10_uc004dhe.1_5'Flank|RBM10_uc004dhf.2_5'Flank|RBM10_uc004dhg.2_5'Flank|RBM10_uc004dhh.2_5'Flank|RBM10_uc010nhq.2_5'Flank|RBM10_uc004dhi.2_5'Flank	NM_001135998	NP_001129470	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	63					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I					0						ACAAGTTTTCGTCCTCGGGTT	0.657											OREG0019755	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	47003890	G	A	47003890	2	1	131	1	0	0	0	0	0	0	0	1	10280	1136	40	1		1	NDUFB11	23	47003890	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	5928095	47003890	108266670	2110	78285											
GLOD5	392465	broad.mit.edu	37	chrX	48629416	48629416	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaaaggaatttgaacccaAagccgctcacccagttcctg	10	12	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:48629416A>G	uc011mmh.1	+	3	316	c.275A>G	c.(274-276)AAA>AGA	p.K92R		NM_001080489	NP_001073958			glyoxalase domain containing 5												0						TTTGAACCCAAAGCCGCTCAC	0.512													G	48629416	A	G	48629416	3	3	131	1	0	0	0	0	1	0	0	0	6451	14	1	3	285	3	GLOD5	23	48629416	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1625526	48629416	106641144	2111	78286											
GATA1	2623	broad.mit.edu	37	chrX	48649621	48649621	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatcaggggttttcttcccCtctgggcctgagggcttgga	14	10	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:48649621C>A	uc004dkq.3	+	2	196	c.105C>A	c.(103-105)CCC>CCA	p.P35P		NM_002049	NP_002040	P15976	GATA1_HUMAN	GATA binding protein 1	35					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M1fs(7)|p.F34fs*3(2)|p.P35fs*4(2)|p.F33fs*23(1)|p.F33fs*90(1)		haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						TTTTCTTCCCCTCTGGGCCTG	0.647			Mis|F		megakaryoblastic leukemia of Downs Syndrome								A	48649621	C	A	48649621	2	1	131	1	0	0	0	0	0	0	0	1	6253	668	24	5		5	GATA1	23	48649621	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	20205	48649621	106620939	2112	78287											
HDAC6	10013	broad.mit.edu	37	chrX	48678589	48678589	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctggggggctgccaggtgtCacctgagggttatgcccacc	16	12	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:48678589C>T	uc011mmi.1	+	23	2359	c.2264C>T	c.(2263-2265)TCA>TTA	p.S755L	HDAC6_uc004dks.1_Missense_Mutation_p.S755L|HDAC6_uc010nig.1_Missense_Mutation_p.S603L|HDAC6_uc004dkt.1_Missense_Mutation_p.S755L|HDAC6_uc011mmk.1_Missense_Mutation_p.S736L|HDAC6_uc004dkv.1_Missense_Mutation_p.S403L|HDAC6_uc004dkw.1_Missense_Mutation_p.S403L|HDAC6_uc004dkx.1_Missense_Mutation_p.S118L	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	755	Histone deacetylase 2.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4					Vorinostat(DB02546)	TGCCAGGTGTCACCTGAGGGT	0.577													T	48678589	C	T	48678589	3	4	131	1	0	0	0	0	1	0	0	0	7011	838	29	4	2350	4	HDAC6	23	48678589	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	28968	48678589	106591971	2113	78288											
TFE3	7030	broad.mit.edu	37	chrX	48891050	48891050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgttgaatcgcctgcgacGctcaactttggagaggggag	14	8	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:48891050G>A	uc004dmb.3	-	8	1304	c.1066C>T	c.(1066-1068)CGT>TGT	p.R356C	TFE3_uc004dmc.3_Missense_Mutation_p.R251C|TFE3_uc004dme.1_RNA	NM_006521	NP_006512	P19532	TFE3_HUMAN	transcription factor E3	356	Basic motif.				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						CGCCTGCGACGCTCAACTTTG	0.527			T	SFPQ|ASPSCR1|PRCC|NONO|CLTC	papillary renal|alveolar soft part sarcoma|renal								A	48891050	G	A	48891050	3	1	131	1	0	0	0	0	1	0	0	0	15797	1087	38	1	673	1	TFE3	23	48891050	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	212461	48891050	106379510	2114	78289											
CCDC120	90060	broad.mit.edu	37	chrX	48925127	48925127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcctgccccgcagtggcGgtggaacaggctggggggag	22	10	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:48925127G>A	uc010nik.2	+	10	1879	c.1372G>A	c.(1372-1374)GGT>AGT	p.G458S	CCDC120_uc011mmq.1_Missense_Mutation_p.G446S|CCDC120_uc004dmf.2_Missense_Mutation_p.G458S|CCDC120_uc010nil.2_Missense_Mutation_p.G458S|CCDC120_uc011mmr.1_Missense_Mutation_p.G458S|CCDC120_uc011mms.1_Missense_Mutation_p.G446S	NM_033626	NP_296375	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120 isoform 3	458	Pro-rich.						protein binding			pancreas(1)	1						CCGCAGTGGCGGTGGAACAGG	0.706													A	48925127	G	A	48925127	3	1	131	1	0	0	0	0	1	0	0	0	2756	1116	39	1	1402	1	CCDC120	23	48925127	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	34077	48925127	106345433	2115	78290											
GPKOW	27238	broad.mit.edu	37	chrX	48972303	48972304	+	Frame_Shift_Ins	INS	-	-	C													cacaaaccgcacacgcaggtINSccctgtgcaaccagtgctga							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:48972303_48972304insC	uc004dmr.2	-	8	1088_1089	c.1081_1082insG	c.(1081-1083)GACfs	p.D361fs		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	361						nucleus	nucleic acid binding			ovary(2)	2						CACACGCAGGTCCCTGTGCAAC	0.574													C	48972304	-	C	48972303	7	5	131	1	0	1	1	0	0	0	0	0	6613	1667	58	0	364	0	GPKOW	23	48972303	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	47176	48972303	106298257	2116	78291	390	2									
GPKOW	27238	broad.mit.edu	37	chrX	48972304	48972305	+	Frame_Shift_Ins	INS	-	-	C													acaaaccgcacacgcaggtcINScctgtgcaaccagtgctgac							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:48972303_48972304T>TC	uc004dmr.3	-	7	1088_1089	c.1081_1082A>GA	c.(1081-1083)gacfs	p.D361fs		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	Homo sapiens G patch domain and KOW motifs (GPKOW), mRNA.	361						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CACACGCAGGTCCCTGTGCAAC	0.574													C	48972305	-	C	48972304	7	5	131	1	0	1	1	0	0	0	0	0	6613	855	30	0	365	0	GPKOW	23	48972304	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	48972304	106298256	2117	78292	390	2									
GPKOW	27238	broad.mit.edu	37	chrX	48973476	48973476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggctccccacagccagaCgaaccatggcccgaacattg	9	18	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:48973476C>T	uc004dmr.2	-	6	828	c.821G>A	c.(820-822)CGT>CAT	p.R274H		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	274						nucleus	nucleic acid binding			ovary(2)	2						CACAGCCAGACGAACCATGGC	0.547													T	48973476	C	T	48973476	3	4	131	1	0	0	0	0	1	0	0	0	6613	536	19	1	633	1	GPKOW	23	48973476	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1172	48973476	106297084	2118	78293											
MAGIX	79917	broad.mit.edu	37	chrX	49021225	49021225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggttagagacatgtaacGcacctccccaattgatccag	9	11	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:49021225G>A	uc010nin.1	+	4	351	c.304G>A	c.(304-306)GCA>ACA	p.A102T	MAGIX_uc010nio.1_Intron|MAGIX_uc004dmt.2_Intron|MAGIX_uc004dmu.2_Missense_Mutation_p.A43T|MAGIX_uc004dmw.2_Intron	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked isoform a	102											0						GACATGTAACGCACCTCCCCA	0.537													A	49021225	G	A	49021225	3	1	131	1	0	0	0	0	1	0	0	0	9193	1087	38	1	358	1	MAGIX	23	49021225	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	47749	49021225	106249335	2119	78294											
CACNA1F	778	broad.mit.edu	37	chrX	49078999	49078999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgcccttgtccttggcaGtgcctgcatctccactggcc	9	18	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:49078999G>A	uc004dnb.2	-	17	2365	c.2303C>T	c.(2302-2304)ACT>ATT	p.T768I	CACNA1F_uc010nip.2_Missense_Mutation_p.T757I	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	768	Cytoplasmic (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	GTCCTTGGCAGTGCCTGCATC	0.572													A	49078999	G	A	49078999	3	1	131	1	0	0	0	0	1	0	0	0	2543	1029	36	4	3758	4	CACNA1F	23	49078999	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	57774	49078999	106191561	2120	78295											
CACNA1F	778	broad.mit.edu	37	chrX	49079419	49079419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggagggcctgggggaacGtgtcaaaggtgcttcgcttg	18	7	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:49079419G>A	uc004dnb.2	-	15	2149	c.2087C>T	c.(2086-2088)ACG>ATG	p.T696M	CACNA1F_uc010nip.2_Missense_Mutation_p.T685M	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	696	Extracellular (Potential).|II.				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	CTGGGGGAACGTGTCAAAGGT	0.567													A	49079419	G	A	49079419	3	1	131	1	0	0	0	0	1	0	0	0	2543	1145	40	1	3982	1	CACNA1F	23	49079419	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	420	49079419	106191141	2121	78296											
CCNB3	85417	broad.mit.edu	37	chrX	50052149	50052149	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactgagaaggagacactttTccaagagctatctgtattgc	9	9	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:50052149T>C	uc004dox.3	+	6	1278	c.980T>C	c.(979-981)TTC>TCC	p.F327S	CCNB3_uc004doy.2_Missense_Mutation_p.F327S|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	327					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					GAGACACTTTTCCAAGAGCTA	0.443													C	50052149	T	C	50052149	3	2	131	1	0	0	0	0	1	0	0	0	2914	1783	62	3	994	3	CCNB3	23	50052149	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	972730	50052149	105218411	2122	78297											
CCNB3	85417	broad.mit.edu	37	chrX	50090755	50090755	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttactcctggccctctacaTgaagaagctcggatactggg	10	12	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:50090755T>C	uc004dox.3	+	11	4239	c.3941T>C	c.(3940-3942)ATG>ACG	p.M1314T	CCNB3_uc004doy.2_Missense_Mutation_p.M1314T|CCNB3_uc004doz.2_Missense_Mutation_p.M210T|CCNB3_uc010njq.2_Missense_Mutation_p.M206T|CCNB3_uc004dpa.2_Missense_Mutation_p.M153T	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	1314					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					GCCCTCTACATGAAGAAGCTC	0.498													C	50090755	T	C	50090755	3	2	131	1	0	0	0	0	1	0	0	0	2914	1464	51	3	3975	3	CCNB3	23	50090755	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	38606	50090755	105179805	2123	78298											
IQSEC2	23096	broad.mit.edu	37	chrX	53279669	53279669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctggagctctcaaggctctCgttatctccaccatcagagt	9	13	4	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:53279669C>T	uc004dsd.2	-	5	2290	c.2089G>A	c.(2089-2091)GAG>AAG	p.E697K	IQSEC2_uc004dsc.2_Missense_Mutation_p.E492K	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	687					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						TCAAGGCTCTCGTTATCTCCA	0.582													T	53279669	C	T	53279669	3	4	131	1	0	0	0	0	1	0	0	0	7818	893	31	1	2421	1	IQSEC2	23	53279669	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3188914	53279669	101990891	2124	78299											
HUWE1	10075	broad.mit.edu	37	chrX	53657955	53657955	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtgattagaaaagccaTgggccagtcgtatgtgtgta	12	7	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:53657955T>C	uc004dsp.2	-	12	1196	c.794A>G	c.(793-795)CAT>CGT	p.H265R		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	265					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						AGAAAAGCCATGGGCCAGTCG	0.378													C	53657955	T	C	53657955	3	2	131	1	0	0	0	0	1	0	0	0	7461	1464	51	3	12622	3	HUWE1	23	53657955	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	378286	53657955	101612605	2125	78300											
FGD1	2245	broad.mit.edu	37	chrX	54472562	54472563	+	Frame_Shift_Ins	INS	-	-	G													taggtcttgtctcgggtctgINSgggggattcggggggttcag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:54472561_54472562T>TG	uc004dtg.3	-	17	3600_3601	c.2866_2867A>CA	c.(2866-2868)cagfs	p.Q956fs		NM_004463	NP_004454	P98174	FGD1_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.	956					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTCTCGGGTCTGGGGGGATTCG	0.634													G	54472563	-	G	54472562	7	5	131	1	0	1	1	0	0	0	0	0	5832	1357	47	0	23	0	FGD1	23	54472562	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	814607	54472562	100797998	2126	78301											
TRO	7216	broad.mit.edu	37	chrX	54949891	54949891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaaggctgccagcagggGcccaaattctgtctctgaga	12	11	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:54949891G>A	uc004dtq.2	+	3	1033	c.926G>A	c.(925-927)GGC>GAC	p.G309D	TRO_uc011moj.1_Missense_Mutation_p.G252D|TRO_uc004dts.2_Missense_Mutation_p.G309D|TRO_uc004dtr.2_Missense_Mutation_p.G309D|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	309					embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						GCCAGCAGGGGCCCAAATTCT	0.562													A	54949891	G	A	54949891	3	1	131	1	0	0	0	0	1	0	0	0	16571	1203	42	2	932	2	TRO	23	54949891	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	477329	54949891	100320669	2127	78302											
MAGEH1	28986	broad.mit.edu	37	chrX	55478849	55478849	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcgccgccgtaatgcgagAgccgcagaagagaaccgcaa	14	13	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:55478849A>G	uc004dum.2	+	1	312	c.42A>G	c.(40-42)AGA>AGG	p.R14R		NM_014061	NP_054780	Q9H213	MAGH1_HUMAN	melanoma antigen, family H, 1 protein	14	MAGE.				apoptosis					ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						GTAATGCGAGAGCCGCAGAAG	0.602													G	55478849	A	G	55478849	2	3	131	1	0	0	0	0	0	0	0	1	9188	301	11	3		3	MAGEH1	23	55478849	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	528958	55478849	99791711	2128	78303											
MTMR8	55613	broad.mit.edu	37	chrX	63444306	63444306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctggcacaaggctctgCggacgactaaacggacctgt	12	13	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:63444306C>T	uc011mou.1	-	11	2059	c.1991G>A	c.(1990-1992)CGC>CAC	p.R664H	ASB12_uc004dvp.1_Missense_Mutation_p.R280H|ASB12_uc004dvq.1_Missense_Mutation_p.R289H|ASB12_uc004dvr.1_Missense_Mutation_p.R289H	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	Error:Variant_position_missing_in_Q96EF0_after_alignment						nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						CAAGGCTCTGCGGACGACTAA	0.488													T	63444306	C	T	63444306	3	4	131	1	0	0	0	0	1	0	0	0	9949	768	27	1		1	MTMR8	23	63444306	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	7965457	63444306	91826254	2129	78304											
ZC3H12B	340554	broad.mit.edu	37	chrX	64722913	64722913	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaatccttgggttggaAtgtgcaatgattccagggag	16	5	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:64722913A>G	uc010nko.2	+	5	2311	c.2302A>G	c.(2302-2304)ATG>GTG	p.M768V		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	768							endonuclease activity|nucleic acid binding|zinc ion binding			lung(1)|kidney(1)|pancreas(1)	3						TTGGGTTGGAATGTGCAATGA	0.473													G	64722913	A	G	64722913	3	3	131	1	0	0	0	0	1	0	0	0	17559	101	4	3	2353	3	ZC3H12B	23	64722913	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	1278607	64722913	90547647	2130	78305											
MSN	4478	broad.mit.edu	37	chrX	64949377	64949377	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctaccctgaggatgtgtcCgaggaattgattcaggacat	11	8	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:64949377C>T	uc004dwf.2	+	4	468	c.270C>T	c.(268-270)TCC>TCT	p.S90S		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	90	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						AGGATGTGTCCGAGGAATTGA	0.517			T	ALK	ALCL								T	64949377	C	T	64949377	2	4	131	1	0	0	0	0	0	0	0	1	9885	639	23	1		1	MSN	23	64949377	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	226464	64949377	90321183	2131	78306											
DLG3	1741	broad.mit.edu	37	chrX	69669611	69669611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacagccgggcggtggaggCgctgaaggaggcaggccctg	19	11	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:69669611C>T	uc004dyi.1	+	4	933	c.605C>T	c.(604-606)GCG>GTG	p.A202V	DLG3_uc004dyj.1_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	202	PDZ 1.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					GCGGTGGAGGCGCTGAAGGAG	0.637													T	69669611	C	T	69669611	3	4	131	1	0	0	0	0	1	0	0	0	4556	768	27	1	619	1	DLG3	23	69669611	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	4720234	69669611	85600949	2132	78307											
NLGN3	54413	broad.mit.edu	37	chrX	70384062	70384062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccagatccaggccctccGctgggtgagcgagaatattg	13	11	0	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:70384062G>A	uc004dzd.1	+	5	997	c.797G>A	c.(796-798)CGC>CAC	p.R266H	NLGN3_uc010nlb.1_Missense_Mutation_p.R226H|NLGN3_uc004dzb.2_Missense_Mutation_p.R246H|NLGN3_uc004dzc.2_Missense_Mutation_p.R129H|NLGN3_uc011mps.1_Missense_Mutation_p.R226H|NLGN3_uc004dze.2_Missense_Mutation_p.R64H|NLGN3_uc011mpr.1_Missense_Mutation_p.R226H	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	266	Extracellular (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)					CAGGCCCTCCGCTGGGTGAGC	0.572													A	70384062	G	A	70384062	3	1	131	1	0	0	0	0	1	0	0	0	10463	1087	38	1	815	1	NLGN3	23	70384062	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	714451	70384062	84886498	2133	78308											
RGAG4	340526	broad.mit.edu	37	chrX	71349920	71349920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgatgcacccaggaagttttCggcgtggtaaccacttgtgg	13	9	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:71349920C>T	uc010nlh.1	-	1	1832	c.1471G>A	c.(1471-1473)GAA>AAA	p.E491K	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	491										ovary(2)|skin(1)	3	Renal(35;0.156)					AGGAAGTTTTCGGCGTGGTAA	0.547													T	71349920	C	T	71349920	3	4	131	1	0	0	0	0	1	0	0	0	13275	893	31	1	242	1	RGAG4	23	71349920	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	965858	71349920	83920640	2134	78309											
KIAA2022	340533	broad.mit.edu	37	chrX	73963005	73963005	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaattagtgtcccgagccaTatagcgactacagtccttga	9	10	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:73963005T>C	uc004eby.2	-	3	2004	c.1387A>G	c.(1387-1389)ATG>GTG	p.M463V		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	463					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						TCCCGAGCCATATAGCGACTA	0.448													C	73963005	T	C	73963005	3	2	131	1	0	0	0	0	1	0	0	0	8269	1406	49	3	3171	3	KIAA2022	23	73963005	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	2613085	73963005	81307555	2135	78310											
MAGT1	84061	broad.mit.edu	37	chrX	77112909	77112909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctcagctgaaaaacccCgcacctgtaactcatatgta	6	13	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:77112909C>T	uc004fof.2	-	4	634	c.572G>A	c.(571-573)CGG>CAG	p.R191Q	MAGT1_uc004fog.3_Intron	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	159					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				upper_aerodigestive_tract(1)	1						TGAAAAACCCCGCACCTGTAA	0.448													T	77112909	C	T	77112909	3	4	131	1	0	0	0	0	1	0	0	0	9196	652	23	1	559	1	MAGT1	23	77112909	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3149904	77112909	78157651	2136	78311											
P2RY10	27334	broad.mit.edu	37	chrX	78216537	78216537	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcccatcctgagaagcacaGacttaaacaacaacaagtcc	5	13	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:78216537G>A	uc004ede.2	+	4	889	c.520G>A	c.(520-522)GAC>AAC	p.D174N	P2RY10_uc004edf.2_Missense_Mutation_p.D174N	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	174	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5						GAGAAGCACAGACTTAAACAA	0.498													A	78216537	G	A	78216537	3	1	131	1	0	0	0	0	1	0	0	0	11347	942	33	4	522	4	P2RY10	23	78216537	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1103628	78216537	77054023	2137	78312											
ZNF711	7552	broad.mit.edu	37	chrX	84510642	84510642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagattgtgtttcaggagtcGactctcccacaatggtatca	9	9	3	1	rs3747423		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:84510642G>A	uc004eeo.2	+	4	804	c.457G>A	c.(457-459)GAC>AAC	p.D153N	ZNF711_uc004eep.2_Missense_Mutation_p.D153N|ZNF711_uc004eeq.2_Missense_Mutation_p.D153N	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	153					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			ovary(3)|skin(1)	4						TTCAGGAGTCGACTCTCCCAC	0.448													A	84510642	G	A	84510642	3	1	131	1	0	0	0	0	1	0	0	0	18113	1058	37	1	463	1	ZNF711	23	84510642	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	6294105	84510642	70759918	2138	78313											
DACH2	117154	broad.mit.edu	37	chrX	85403798	85403798	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaacagtgccggaggcggCggcaggggcaacaccaacac	15	13	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:85403798C>T	uc004eew.2	+	1	344	c.174C>T	c.(172-174)GGC>GGT	p.G58G	DACH2_uc004eex.2_Silent_p.G58G|DACH2_uc010nmq.2_5'UTR	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	58	Poly-Gly.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						CCGGAGGCGGCGGCAGGGGCA	0.572													T	85403798	C	T	85403798	2	4	131	1	0	0	0	0	0	0	0	1	4221	755	27	1		1	DACH2	23	85403798	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	893156	85403798	69866762	2139	78314											
DIAPH2	1730	broad.mit.edu	37	chrX	96167391	96167391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgagctggaaaagcttctgGacaaaaaacagtaagaataa	9	5	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:96167391G>A	uc004efu.3	+	6	1048	c.652G>A	c.(652-654)GAC>AAC	p.D218N	DIAPH2_uc004eft.3_Missense_Mutation_p.D218N|DIAPH2_uc004efs.2_Missense_Mutation_p.D225N	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	218	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						AAAGCTTCTGGACAAAAAACA	0.313													A	96167391	G	A	96167391	3	1	131	1	0	0	0	0	1	0	0	0	4519	1174	41	4	674	4	DIAPH2	23	96167391	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	10763593	96167391	59103169	2140	78315											
SYTL4	94121	broad.mit.edu	37	chrX	99934400	99934400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggagctctcccccttccCcacctttacctgtaagggat	7	17	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:99934400C>T	uc004egd.3	-	17	1924	c.1568G>A	c.(1567-1569)GGG>GAG	p.G523E	SYTL4_uc004egc.2_5'Flank|SYTL4_uc010nnb.2_Missense_Mutation_p.G195E|SYTL4_uc010nnc.2_Missense_Mutation_p.G523E|SYTL4_uc004ege.3_Missense_Mutation_p.G523E|SYTL4_uc004egf.3_Missense_Mutation_p.G523E	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	523	C2 2.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			ovary(2)	2					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCCCCTTCCCCACCTTTACC	0.512													T	99934400	C	T	99934400	3	4	131	1	0	0	0	0	1	0	0	0	15482	623	22	4	459	4	SYTL4	23	99934400	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	3767009	99934400	55336160	2141	78316											
DRP2	1821	broad.mit.edu	37	chrX	100492712	100492712	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaggagttgtcagctcagcTgcccctacagggggatgtgg	16	9	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:100492712T>A	uc004egz.2	+	5	755	c.386T>A	c.(385-387)CTG>CAG	p.L129Q	DRP2_uc011mrh.1_Missense_Mutation_p.L51Q	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	129	Spectrin 1.				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						TCAGCTCAGCTGCCCCTACAG	0.552													A	100492712	T	A	100492712	3	1	131	1	0	0	0	0	1	0	0	0	4764	1580	55	5	396	5	DRP2	23	100492712	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	558312	100492712	54777848	2142	78317											
ARMCX2	9823	broad.mit.edu	37	chrX	100911088	100911088	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtcattagtaatagtcAtgtttgttagaaattttagt	9	2	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:100911088A>G	uc004eid.2	-	3	1842	c.1487T>C	c.(1486-1488)ATG>ACG	p.M496T	ARMCX2_uc004eie.3_Missense_Mutation_p.M496T|ARMCX2_uc004eif.3_Missense_Mutation_p.M496T|ARMCX2_uc004eig.3_Missense_Mutation_p.M496T|ARMCX2_uc010nnt.2_Missense_Mutation_p.M496T	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	ALEX2 protein	496						integral to membrane	binding			ovary(6)	6						AGTAATAGTCATGTTTGTTAG	0.403													G	100911088	A	G	100911088	3	3	131	1	0	0	0	0	1	0	0	0	960	217	8	3	415	3	ARMCX2	23	100911088	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	418376	100911088	54359472	2143	78318											
ARMCX2	9823	broad.mit.edu	37	chrX	100911473	100911473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcgcttctgcatggcaaCgggtcttcttcccctccctc	11	16	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:100911473C>T	uc004eid.2	-	3	1457	c.1102G>A	c.(1102-1104)GTT>ATT	p.V368I	ARMCX2_uc004eie.3_Missense_Mutation_p.V368I|ARMCX2_uc004eif.3_Missense_Mutation_p.V368I|ARMCX2_uc004eig.3_Missense_Mutation_p.V368I|ARMCX2_uc010nnt.2_Missense_Mutation_p.V368I	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	ALEX2 protein	368						integral to membrane	binding			ovary(6)	6						TGCATGGCAACGGGTCTTCTT	0.552													T	100911473	C	T	100911473	3	4	131	1	0	0	0	0	1	0	0	0	960	536	19	1	800	1	ARMCX2	23	100911473	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	385	100911473	54359087	2144	78319											
BHLHB9	80823	broad.mit.edu	37	chrX	102003967	102003967	+	Frame_Shift_Del	DEL	A	A	-													aagagcccaggccaaaactgAaaaaaaggctgctatacaag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:102003966_102003966GA>G	uc022cbi.1	+	0	43	c.43_43GA>G	c.(43-45)gaafs	p.E15fs	BHLHB9_uc010nog.3_Frame_Shift_Del_p.E15fs|BHLHB9_uc011mrq.2_Frame_Shift_Del_p.E15fs|BHLHB9_uc011mrr.2_Frame_Shift_Del_p.E15fs|BHLHB9_uc011mrs.2_Frame_Shift_Del_p.E15fs|BHLHB9_uc011mrt.2_Frame_Shift_Del_p.E15fs|BHLHB9_uc004ejo.3_Frame_Shift_Del_p.E15fs|BHLHB9_uc011mru.2_Frame_Shift_Del_p.E15fs|BHLHB9_uc011mrv.2_Frame_Shift_Del_p.E15fs	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	15						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGCCAAAACTGAAAAAAAGGC	0.502													-	102003967	A	-	102003967	7	5	131	1	0	1	0	1	0	0	0	0	1420	246	9	0	46	0	BHLHB9	23	102003967	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	1092494	102003967	53266593	2145	78320											
TCEAL3	85012	broad.mit.edu	37	chrX	102864512	102864512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgtacaggatccattcGccccaaggggacaacggggt	14	10	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:102864512G>A	uc004ekq.2	+	3	782	c.520G>A	c.(520-522)GCC>ACC	p.A174T	TCEAL3_uc004ekr.2_Missense_Mutation_p.A174T	NM_001006933	NP_001006934	Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						GGATCCATTCGCCCCAAGGGG	0.512													A	102864512	G	A	102864512	3	1	131	1	0	0	0	0	1	0	0	0	15669	1087	38	1	522	1	TCEAL3	23	102864512	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	860545	102864512	52406048	2146	78321											
RNF128	79589	broad.mit.edu	37	chrX	105970199	105970199	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cggtggctgcggcttttccaGattgctggcatggtgcttcc	14	11	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:105970199G>T	uc004eml.2	+	1	306	c.56G>T	c.(55-57)AGA>ATA	p.R19I	RNF128_uc004emk.2_Intron	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	ring finger protein 128 isoform 1	19						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			ovary(1)|central_nervous_system(1)	2						GGCTTTTCCAGATTGCTGGCA	0.726													T	105970199	G	T	105970199	3	4	131	1	0	0	0	0	1	0	0	0	13436	942	33	5	468	5	RNF128	23	105970199	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	3105687	105970199	49300361	2147	78322											
TSC22D3	1831	broad.mit.edu	37	chrX	106957756	106957756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacagagccacttacaccGcagaaccaccaggggcctcg	11	15	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:106957756G>A	uc004eng.2	-	3	648	c.398C>T	c.(397-399)GCG>GTG	p.A133V	TSC22D3_uc004enf.2_Missense_Mutation_p.A76V|TSC22D3_uc004enh.2_Missense_Mutation_p.A199V|TSC22D3_uc004eni.2_Missense_Mutation_p.A199V|TSC22D3_uc004enj.2_Missense_Mutation_p.A199V	NM_004089	NP_004080	Q99576	T22D3_HUMAN	TSC22 domain family, member 3 isoform 2	133							sequence-specific DNA binding transcription factor activity				0						CACTTACACCGCAGAACCACC	0.562													A	106957756	G	A	106957756	3	1	131	1	0	0	0	0	1	0	0	0	16606	1087	38	1	10	1	TSC22D3	23	106957756	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	987557	106957756	48312804	2148	78323											
TEX13B	56156	broad.mit.edu	37	chrX	107224317	107224317	+	Frame_Shift_Del	DEL	C	C	-													ccacaggctagcatcagaggCcccccagttgaaaggcatct							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:107224317delC	uc004enn.1	-	3	1025	c.932delG	c.(931-933)GGCfs	p.G311fs		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	testis expressed 13B	311										ovary(1)	1						GCATCAGAGGCCCCCCAGTTG	0.562													-	107224317	C	-	107224317	7	5	131	1	0	1	0	1	0	0	0	0	15774	739	26	0	10	0	TEX13B	23	107224317	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	266561	107224317	48046243	2149	78324											
DCX	1641	broad.mit.edu	37	chrX	110653323	110653323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaatggtgtaaatgtaacGcactccctgaggcaggttga	11	8	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:110653323G>A	uc004epd.2	-	2	719	c.547C>T	c.(547-549)CGT>TGT	p.R183C	DCX_uc011msv.1_Missense_Mutation_p.R183C|DCX_uc004epe.2_Missense_Mutation_p.R102C|DCX_uc004epf.2_Missense_Mutation_p.R102C|DCX_uc004epg.2_Missense_Mutation_p.R102C	NM_000555	NP_000546	O43602	DCX_HUMAN	doublecortin isoform a	183	Doublecortin 1.		R -> S (in LISX1).		axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			central_nervous_system(2)|lung(1)|skin(1)	4						TAAATGTAACGCACTCCCTGA	0.522													A	110653323	G	A	110653323	3	1	131	1	0	0	0	0	1	0	0	0	4318	1087	38	1	817	1	DCX	23	110653323	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	3429006	110653323	44617237	2150	78325											
ALG13	79868	broad.mit.edu	37	chrX	110970903	110970904	+	Frame_Shift_Ins	INS	-	-	C													ggagtcccagtatggatttaINSccccagggaatggacagatg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:110970903_110970904insC	uc011msy.1	+	18	2186_2187	c.2152_2153insC	c.(2152-2154)ACCfs	p.T718fs	ALG13_uc011msx.1_Frame_Shift_Ins_p.T614fs|ALG13_uc011msz.1_Frame_Shift_Ins_p.T640fs|ALG13_uc011mta.1_Frame_Shift_Ins_p.T614fs|ALG13_uc011mtb.1_Frame_Shift_Ins_p.T614fs			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	718					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1						GTATGGATTTACCCCAGGGAAT	0.396													C	110970904	-	C	110970903	7	5	131	1	0	1	1	0	0	0	0	0	515	391	14	0	2364	0	ALG13	23	110970903	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	317580	110970903	44299657	2151	78326	391	2									
ALG13	79868	broad.mit.edu	37	chrX	110970904	110970905	+	Frame_Shift_Ins	INS	-	-	C													gagtcccagtatggatttacINScccagggaatggacagatgc							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:110970903_110970904A>AC	uc011msy.2	+	17	2253_2254	c.2152_2153A>AC	c.(2152-2154)accfs	p.T718fs	ALG13_uc011msx.2_Frame_Shift_Ins_p.T614fs|ALG13_uc011msz.2_Frame_Shift_Ins_p.T640fs|ALG13_uc011mta.2_Frame_Shift_Ins_p.T614fs|ALG13_uc011mtb.2_Frame_Shift_Ins_p.T614fs	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	718					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						GTATGGATTTACCCCAGGGAAT	0.396													C	110970905	-	C	110970904	7	5	131	1	0	1	1	0	0	0	0	0	515	507	18	0	2365	0	ALG13	23	110970904	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	110970904	44299656	2152	78327	391	2									
TRPC5	7224	broad.mit.edu	37	chrX	111195335	111195335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgcccaccacttccttgCgtatggcatagagcaatgca	9	14	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:111195335C>T	uc004epl.1	-	2	1233	c.314G>A	c.(313-315)CGC>CAC	p.R105H	TRPC5_uc004epm.1_Missense_Mutation_p.R105H	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	105	ANK 3.|Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						CACTTCCTTGCGTATGGCATA	0.542													T	111195335	C	T	111195335	3	4	131	1	0	0	0	0	1	0	0	0	16579	768	27	1	2647	1	TRPC5	23	111195335	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	224431	111195335	44075225	2153	78328											
SLC6A14	11254	broad.mit.edu	37	chrX	115572199	115572199	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctttgttctttctggagTgttcactgggacaatttgct	9	8	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:115572199T>G	uc004eqi.2	+	3	384	c.280T>G	c.(280-282)TGT>GGT	p.C94G	SLC6A14_uc011mtm.1_RNA	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid	94					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)|pancreas(1)	3					L-Proline(DB00172)	CTTTCTGGAGTGTTCACTGGG	0.388													G	115572199	T	G	115572199	3	3	131	1	0	0	0	0	1	0	0	0	14677	1696	59	5	290	5	SLC6A14	23	115572199	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	4376864	115572199	39698361	2154	78329											
SLC6A14	11254	broad.mit.edu	37	chrX	115582694	115582694	+	Frame_Shift_Del	DEL	A	A	-													tatcatcttacaataagttcAaaaacaactgcttctctgat							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:115582694delA	uc004eqi.2	+	8	1122	c.1018delA	c.(1018-1020)AAAfs	p.K340fs		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid	340					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)|pancreas(1)	3					L-Proline(DB00172)	CAATAAGTTCAAAAACAACTG	0.398													-	115582694	A	-	115582694	7	5	131	1	0	1	0	1	0	0	0	0	14677	131	5	0	1048	0	SLC6A14	23	115582694	Frame_Shift_Del	DEL	A	TCGA-BR-A4QL-01A-31D-A25D-08	10495	115582694	39687866	2155	78330											
KLHL13	90293	broad.mit.edu	37	chrX	117043339	117043339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttaggtggaagaaggtgcGcttttcatttaaagatgcaa	11	5	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:117043339G>A	uc004eql.2	-	5	1353	c.1291C>T	c.(1291-1293)CGC>TGC	p.R431C	KLHL13_uc004eqk.2_Missense_Mutation_p.R380C|KLHL13_uc011mtn.1_Missense_Mutation_p.R271C|KLHL13_uc011mto.1_Missense_Mutation_p.R425C|KLHL13_uc011mtp.1_Missense_Mutation_p.R433C|KLHL13_uc004eqm.2_Missense_Mutation_p.R380C|KLHL13_uc011mtq.1_Missense_Mutation_p.R415C	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	431	Kelch 2.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)|skin(1)	2						AAGAAGGTGCGCTTTTCATTT	0.398													A	117043339	G	A	117043339	3	1	131	1	0	0	0	0	1	0	0	0	8369	1087	38	1	688	1	KLHL13	23	117043339	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1460645	117043339	38227221	2156	78331											
PGRMC1	10857	broad.mit.edu	37	chrX	118370513	118370513	+	Frame_Shift_Del	DEL	C	C	-													acagcgacgacgacgagccgCcccctctgccccgcctcaag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:118370513delC	uc004erb.2	+	1	303	c.187delC	c.(187-189)CCCfs	p.P63fs	PGRMC1_uc011mts.1_Frame_Shift_Del_p.P63fs	NM_006667	NP_006658	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	63	Cytoplasmic (Potential).					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding				0						CGACGAGCCGCCCCCTCTGCC	0.697													-	118370513	C	-	118370513	7	5	131	1	0	1	0	1	0	0	0	0	11806	739	26	0	189	0	PGRMC1	23	118370513	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	1327174	118370513	36900047	2157	78332											
RNF113A	7737	broad.mit.edu	37	chrX	119005267	119005267	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccacgggtttcgccgaacGggtggatttataaaccacgc	11	12	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:119005267G>T	uc004esb.2	-	1	525	c.310C>A	c.(310-312)CGT>AGT	p.R104S	NDUFA1_uc004esc.3_5'Flank	NM_006978	NP_008909	O15541	R113A_HUMAN	ring finger protein 113A	104							nucleic acid binding|zinc ion binding			breast(2)	2						TTCGCCGAACGGGTGGATTTA	0.557													T	119005267	G	T	119005267	3	4	131	1	0	0	0	0	1	0	0	0	13427	1116	39	5	725	5	RNF113A	23	119005267	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	634754	119005267	36265293	2158	78333											
AKAP14	158798	broad.mit.edu	37	chrX	119037280	119037280	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaatacacaagacaagaacTacgaggatgaattgactcaa	8	8	1	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:119037280T>G	uc004ese.2	+	3	232	c.94T>G	c.(94-96)TAC>GAC	p.Y32D	AKAP14_uc004esd.2_Missense_Mutation_p.Y32D|AKAP14_uc004esf.2_Missense_Mutation_p.Y32D	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14 isoform a	32						cytoplasm					0						AGACAAGAACTACGAGGATGA	0.408													G	119037280	T	G	119037280	3	3	131	1	0	0	0	0	1	0	0	0	450	1522	53	5	96	5	AKAP14	23	119037280	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	32013	119037280	36233280	2159	78334											
RHOXF2B	727940	broad.mit.edu	37	chrX	119293304	119293304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggagcgcattttccaaCgcgagcagttccccagtgag	12	12	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:119293304C>T	uc004esl.3	+	2	653	c.463C>T	c.(463-465)CGC>TGC	p.R155C		NM_001099685	NP_001093155	P0C7M4	RHF2B_HUMAN	Rhox homeobox family, member 2B	155	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CATTTTCCAACGCGAGCAGTT	0.657													T	119293304	C	T	119293304	3	4	131	1	0	0	0	0	1	0	0	0	13349	536	19	1	1352	1	RHOXF2B	23	119293304	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	256024	119293304	35977256	2160	78335											
FAM70A	55026	broad.mit.edu	37	chrX	119410901	119410901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaccagtgatctccacccGgctggacagggaggagcatg	13	14	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:119410901G>A	uc004eso.3	-	8	813	c.586C>T	c.(586-588)CGG>TGG	p.R196W	FAM70A_uc004esp.3_Missense_Mutation_p.R172W|FAM70A_uc010nqo.2_Intron	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	hypothetical protein LOC55026 isoform 1	196						integral to membrane				lung(1)|breast(1)	2						ATCTCCACCCGGCTGGACAGG	0.582													A	119410901	G	A	119410901	3	1	131	1	0	0	0	0	1	0	0	0	5605	1130	39	1	475	1	FAM70A	23	119410901	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	117597	119410901	35859659	2161	78336											
CUL4B	8450	broad.mit.edu	37	chrX	119680445	119680446	+	Frame_Shift_Ins	INS	-	-	A													gcatctatcaatcttctttaINSaaaaaagaacgctatccaat							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:119680444_119680445T>TA	uc004esw.3	-	5	1294_1295	c.857_858A>TA	c.(856-858)ttafs	p.L286fs	CUL4B_uc010nqq.3_5'UTR|CUL4B_uc004esv.3_Frame_Shift_Ins_p.L268fs	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	286					DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAATCTTCTTTAAAAAAAGAAC	0.327													A	119680446	-	A	119680445	7	5	131	1	0	1	1	0	0	0	0	0	4058	372	13	0	1952	0	CUL4B	23	119680445	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	269544	119680445	35590115	2162	78337											
CUL4B	8450	broad.mit.edu	37	chrX	119691798	119691798	+	Missense_Mutation	SNP	T	T	A													cctggtagagttcttctaaaTtgtacttaattgaagtacta							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:119691798T>A	uc004esw.2	-	4	1144	c.707A>T	c.(706-708)AAT>ATT	p.N236I	CUL4B_uc004esv.2_Missense_Mutation_p.N218I	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	cullin 4B isoform 1	236					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3						TTCTTCTAAATTGTACTTAAT	0.328													A	119691798	T	A	119691798	3	1	131	1	0	0	0	0	1	0	0	0	4058	1493	52	5	2110	5	CUL4B	23	119691798	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	11353	119691798	35578762	2163	78338	392	2									
CUL4B	8450	broad.mit.edu	37	chrX	119691804	119691804	+	Missense_Mutation	SNP	T	T	C													agagttcttctaaattgtacTtaattgaagtactattctga							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:119691804T>C	uc004esw.2	-	4	1138	c.701A>G	c.(700-702)AAG>AGG	p.K234R	CUL4B_uc004esv.2_Missense_Mutation_p.K216R	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	cullin 4B isoform 1	234					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3						TAAATTGTACTTAATTGAAGT	0.323													C	119691804	T	C	119691804	3	2	131	1	0	0	0	0	1	0	0	0	4058	1609	56	3	2116	3	CUL4B	23	119691804	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	6	119691804	35578756	2164	78339	392	2									
GLUD2	2747	broad.mit.edu	37	chrX	120182193	120182193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggctttattggtcctggcGttgatgtgcctgctccagac	13	10	0	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:120182193G>A	uc004eto.2	+	1	732	c.655G>A	c.(655-657)GTT>ATT	p.V219I		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	219					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)	TGGTCCTGGCGTTGATGTGCC	0.458													A	120182193	G	A	120182193	3	1	131	1	0	0	0	0	1	0	0	0	6477	1145	40	1	657	1	GLUD2	23	120182193	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	490389	120182193	35088367	2165	78340											
STAG2	10735	broad.mit.edu	37	chrX	123176474	123176475	+	Frame_Shift_Ins	INS	-	-	G													actctgagataattcgaaaaINSatgactgaagaattcgatga							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:123176474_123176475insG	uc004etz.3	+	6	780_781	c.441_442insG	c.(439-444)AAAATGfs	p.K147fs	STAG2_uc004eua.2_Frame_Shift_Ins_p.K147fs|STAG2_uc004eub.2_Frame_Shift_Ins_p.K147fs|STAG2_uc004euc.2_Frame_Shift_Ins_p.K147fs|STAG2_uc004eud.2_Frame_Shift_Ins_p.K147fs|STAG2_uc004eue.2_Frame_Shift_Ins_p.K147fs	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	147_148					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						TAATTCGAAAAATGACTGAAGA	0.292													G	123176475	-	G	123176474	7	5	131	1	0	1	1	0	0	0	0	0	15242	11	1	0	459	0	STAG2	23	123176474	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	2994281	123176474	32094086	2166	78341	393	2									
STAG2	10735	broad.mit.edu	37	chrX	123176475	123176476	+	Frame_Shift_Ins	INS	-	-	G													ctctgagataattcgaaaaaINStgactgaagaattcgatgag							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:123176474_123176475A>AG	uc004eua.3	+	6	845_846	c.441_442A>AG	c.(439-444)aaaatgfs	p.K147fs	STAG2_uc004etz.4_Frame_Shift_Ins_p.K147fs|STAG2_uc004eub.3_Frame_Shift_Ins_p.K147fs|STAG2_uc004euc.3_Frame_Shift_Ins_p.K147fs|STAG2_uc004eud.3_Frame_Shift_Ins_p.K147fs|STAG2_uc004eue.3_Frame_Shift_Ins_p.K147fs	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	147					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TAATTCGAAAAATGACTGAAGA	0.292													G	123176476	-	G	123176475	7	5	131	1	0	1	1	0	0	0	0	0	15242	101	4	0	460	0	STAG2	23	123176475	Frame_Shift_Ins	INS	-	TCGA-BR-A4QL-01A-31D-A25D-08	1	123176475	32094085	2167	78342	393	2									
ODZ1	10178	broad.mit.edu	37	chrX	123539072	123539072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgctggcaaaagtgacacGcagggaaccatctggattca	11	12	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:123539072G>A	uc004euj.2	-	26	5243	c.5179C>T	c.(5179-5181)CGT>TGT	p.R1727C	ODZ1_uc011muj.1_Missense_Mutation_p.R1733C|ODZ1_uc010nqy.2_Missense_Mutation_p.R1734C	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1727	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						AAAGTGACACGCAGGGAACCA	0.537													A	123539072	G	A	123539072	3	1	131	1	0	0	0	0	1	0	0	0	10834	1087	38	1	3022	1	ODZ1	23	123539072	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	362597	123539072	31731488	2168	78343											
OCRL	4952	broad.mit.edu	37	chrX	128703273	128703273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggttccagcctggtgtgaccGaattctttggagaggaacaa	13	8	1	2	rs137853260		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:128703273G>A	uc004euq.2	+	15	1664	c.1499G>A	c.(1498-1500)CGA>CAA	p.R500Q	OCRL_uc004eur.2_Missense_Mutation_p.R500Q	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	500			R -> G (in OCRL).		regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			lung(2)|ovary(1)|kidney(1)	4						TGGTGTGACCGAATTCTTTGG	0.428													A	128703273	G	A	128703273	3	1	131	1	0	0	0	0	1	0	0	0	10823	1058	37	1	1557	1	OCRL	23	128703273	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	5164201	128703273	26567287	2169	78344											
OCRL	4952	broad.mit.edu	37	chrX	128723844	128723844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctcccagcttccgagatGccatagaaatgttttccgtt	8	11	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:128723844G>A	uc004euq.2	+	23	2657	c.2492G>A	c.(2491-2493)TGC>TAC	p.C831Y	OCRL_uc004eur.2_Missense_Mutation_p.C823Y|OCRL_uc010nrb.2_Intron	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	831	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			lung(2)|ovary(1)|kidney(1)	4						CTTCCGAGATGCCATAGAAAT	0.413													A	128723844	G	A	128723844	3	1	131	1	0	0	0	0	1	0	0	0	10823	1319	46	2	2582	2	OCRL	23	128723844	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	20571	128723844	26546716	2170	78345											
UTP14A	10813	broad.mit.edu	37	chrX	129055422	129055422	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgccagagcttgaggcccatGgagtttctgaaagtgaggga	15	7	1	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:129055422G>C	uc004euz.2	+	11	1235	c.1207G>C	c.(1207-1209)GGA>CGA	p.G403R	UTP14A_uc011mup.1_Missense_Mutation_p.G351R|UTP14A_uc011muq.1_Missense_Mutation_p.G349R|UTP14A_uc004eva.1_Missense_Mutation_p.G109R	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	403					rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2						TGAGGCCCATGGAGTTTCTGA	0.507													C	129055422	G	C	129055422	3	2	131	1	0	0	0	0	1	0	0	0	17092	1349	47	5	1249	5	UTP14A	23	129055422	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	331578	129055422	26215138	2171	78346											
BCORL1	63035	broad.mit.edu	37	chrX	129190011	129190011	+	Frame_Shift_Del	DEL	C	C	-													tggaggcttggacgacagatCccccccaggctcctctgaga					rs137862942		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:129190011delC	uc004evb.1	+	13	5150	c.5036delC	c.(5035-5037)TCCfs	p.S1679fs	BCORL1_uc004evc.1_Frame_Shift_Del_p.S515fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1679					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						GACGACAGATCCCCCCCAGGC	0.602													-	129190011	C	-	129190011	7	5	131	1	0	1	0	1	0	0	0	0	1387	855	30	0	5308	0	BCORL1	23	129190011	Frame_Shift_Del	DEL	C	TCGA-BR-A4QL-01A-31D-A25D-08	134589	129190011	26080549	2172	78347											
RAB33A	9363	broad.mit.edu	37	chrX	129306239	129306239	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccagacaagactgaagccaCcatcggcgtggacttcaggg	12	13	1	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:129306239C>A	uc004evl.2	+	1	467	c.203C>A	c.(202-204)ACC>AAC	p.T68N	RAB33A_uc010nre.2_RNA	NM_004794	NP_004785	Q14088	RB33A_HUMAN	Ras-related protein Rab-33A	68					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding				0						ACTGAAGCCACCATCGGCGTG	0.592													A	129306239	C	A	129306239	3	1	131	1	0	0	0	0	1	0	0	0	12922	507	18	5	205	5	RAB33A	23	129306239	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	116228	129306239	25964321	2173	78348											
GPR119	139760	broad.mit.edu	37	chrX	129518465	129518465	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgatgtgacaggaactttcCctgggcctctctgggccaca	11	13	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:129518465C>A	uc011muv.1	-	1	957	c.957G>T	c.(955-957)AGG>AGT	p.R319S		NM_178471	NP_848566	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	319	Cytoplasmic (Potential).					integral to membrane|plasma membrane	lipid binding			ovary(2)	2						AGGAACTTTCCCTGGGCCTCT	0.537													A	129518465	C	A	129518465	3	1	131	1	0	0	0	0	1	0	0	0	6634	622	22	5	54	5	GPR119	23	129518465	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	212226	129518465	25752095	2174	78349											
OR13H1	347468	broad.mit.edu	37	chrX	130678359	130678359	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggctcaaacgagtgtctcCttggctttggccacagcaga	11	11	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:130678359C>T	uc011muw.1	+	1	312	c.312C>T	c.(310-312)TCC>TCT	p.S104S	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H,	104	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Acute lymphoblastic leukemia(192;0.000636)					CGAGTGTCTCCTTGGCTTTGG	0.512													T	130678359	C	T	130678359	2	4	131	1	0	0	0	0	0	0	0	1	10943	668	24	4		4	OR13H1	23	130678359	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1159894	130678359	24592201	2175	78350											
RAP2C	57826	broad.mit.edu	37	chrX	131351264	131351264	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagatttgccaacccctccActccctaacaccactacctt	3	19	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:131351264A>T	uc004ewp.2	-	2	817	c.33T>A	c.(31-33)AGT>AGA	p.S11R	uc004ewr.1_5'Flank|RAP2C_uc004ewo.2_Intron|RAP2C_uc010nrk.2_Intron|RAP2C_uc004ewq.3_Missense_Mutation_p.S11R	NM_021183	NP_067006	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family precursor	11	GTP (By similarity).				negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					CAACCCCTCCACTCCCTAACA	0.517													T	131351264	A	T	131351264	3	4	131	1	0	0	0	0	1	0	0	0	13042	156	6	5	526	5	RAP2C	23	131351264	Missense_Mutation	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	672905	131351264	23919296	2176	78351											
GPC4	2239	broad.mit.edu	37	chrX	132439845	132439845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtggttgggcgttcctcGgggtgatgtggtctgaagcg	19	7	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:132439845G>A	uc004exc.1	-	6	1322	c.1110C>T	c.(1108-1110)CCC>CCT	p.P370P	GPC4_uc011mvg.1_Silent_p.P300P	NM_001448	NP_001439	O75487	GPC4_HUMAN	glypican 4 precursor	370					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	Acute lymphoblastic leukemia(192;0.000127)					GGCGTTCCTCGGGGTGATGTG	0.542													A	132439845	G	A	132439845	2	1	131	1	0	0	0	0	0	0	0	1	6600	1103	39	1		1	GPC4	23	132439845	Silent	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1088581	132439845	22830715	2177	78352											
MAP7D3	79649	broad.mit.edu	37	chrX	135314194	135314194	+	Frame_Shift_Del	DEL	G	G	-													gaatacttccacattcacctGggggggtgcatccacacttg							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:135314193_135314193TG>T	uc004ezt.3	-	7	1144	c.923_923CA>A	c.(922-924)cagfs	p.Q308fs	MAP7D3_uc004ezs.3_Frame_Shift_Del_p.Q273fs|MAP7D3_uc011mwc.2_Frame_Shift_Del_p.Q290fs|MAP7D3_uc010nsa.2_Frame_Shift_Del_p.Q266fs	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGC	0.537													-	135314194	G	-	135314194	7	5	131	1	0	1	0	1	0	0	0	0	9269	1357	47	0	1752	0	MAP7D3	23	135314194	Frame_Shift_Del	DEL	G	TCGA-BR-A4QL-01A-31D-A25D-08	2874349	135314194	19956366	2178	78353											
GPR112	139378	broad.mit.edu	37	chrX	135428783	135428783	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcttctaccacaaggaTatcagaaaccagtttctcca	8	11	3	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:135428783T>C	uc004ezu.1	+	6	3209	c.2918T>C	c.(2917-2919)ATA>ACA	p.I973T	GPR112_uc010nsb.1_Missense_Mutation_p.I768T|GPR112_uc010nsc.1_Missense_Mutation_p.I740T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	973	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					ACCACAAGGATATCAGAAACC	0.498													C	135428783	T	C	135428783	3	2	131	1	0	0	0	0	1	0	0	0	6629	1406	49	3	2928	3	GPR112	23	135428783	Missense_Mutation	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	114589	135428783	19841777	2179	78354											
VGLL1	51442	broad.mit.edu	37	chrX	135630815	135630815	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagccacaaccagaagtaccTgtcacaaaccgtgccgccaa	7	15	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:135630815T>C	uc004ezy.2	+	3	452	c.282T>C	c.(280-282)CCT>CCC	p.P94P	MIR934_hsa-mir-934|MI0005756_5'Flank	NM_016267	NP_057351	Q99990	VGLL1_HUMAN	vestigial like 1	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity				0	Acute lymphoblastic leukemia(192;0.000127)					CAGAAGTACCTGTCACAAACC	0.517													C	135630815	T	C	135630815	2	2	131	1	0	0	0	0	0	0	0	1	17155	1567	55	3		3	VGLL1	23	135630815	Silent	SNP	T	TCGA-BR-A4QL-01A-31D-A25D-08	202032	135630815	19639745	2180	78355											
MCF2	4168	broad.mit.edu	37	chrX	138729031	138729031	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttacagttttctggaaacgtAatgatccaagcattgtcctt	7	8	1	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:138729031A>T	uc011mwn.1	-	3	318	c.312T>A	c.(310-312)ATT>ATA	p.I104I	MCF2_uc004faw.2_Silent_p.I19I|MCF2_uc011mwo.1_Silent_p.I19I			P10911	MCF2_HUMAN	SubName: Full=MCF.2 cell line derived transforming sequence;	Error:Variant_position_missing_in_P10911_after_alignment					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					CTGGAAACGTAATGATCCAAG	0.328													T	138729031	A	T	138729031	2	4	131	1	0	0	0	0	0	0	0	1	9378	358	13	5		5	MCF2	23	138729031	Silent	SNP	A	TCGA-BR-A4QL-01A-31D-A25D-08	3098216	138729031	16541529	2181	78356											
MAMLD1	10046	broad.mit.edu	37	chrX	149671777	149671777	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccactactgcctagctgCgacgccacaggtaagtcact	9	15	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:149671777C>T	uc004fee.1	+	5	2350	c.2274C>T	c.(2272-2274)TGC>TGT	p.C758C	MAMLD1_uc011mxu.1_Intron|MAMLD1_uc011mxv.1_Silent_p.C733C|MAMLD1_uc011mxw.1_Silent_p.C644C	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	758					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					tgcctagctgcgacgccacag	0.199													T	149671777	C	T	149671777	2	4	131	1	0	0	0	0	0	0	0	1	9208	776	27	1		1	MAMLD1	23	149671777	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	10942746	149671777	5598783	2182	78357											
HMGB3	3149	broad.mit.edu	37	chrX	150154642	150154642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcaagaagaagaaggatcCtaatgctcccaaaaggccac	10	10	0	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:150154642C>A	uc004fep.2	+	3	361	c.269C>A	c.(268-270)CCT>CAT	p.P90H	HMGB3_uc004feq.2_Missense_Mutation_p.P90H|HMGB3_uc004fer.2_Missense_Mutation_p.P90H	NM_005342	NP_005333	O15347	HMGB3_HUMAN	high-mobility group box 3	90					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding				0	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAAGGATCCTAATGCTCCC	0.403													A	150154642	C	A	150154642	3	1	131	1	0	0	0	0	1	0	0	0	7227	681	24	5	275	5	HMGB3	23	150154642	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	482865	150154642	5115918	2183	78358											
GPR50	9248	broad.mit.edu	37	chrX	150349152	150349152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaccccgatgaatgtccGgaatgttccattacctggtg	11	10	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:150349152G>A	uc010ntg.1	+	2	1232	c.1097G>A	c.(1096-1098)CGG>CAG	p.R366Q	uc004fes.1_5'Flank	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	366	Cytoplasmic (Potential).|Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAATGTCCGGAATGTTCCA	0.617													A	150349152	G	A	150349152	3	1	131	1	0	0	0	0	1	0	0	0	6697	1116	39	1	1103	1	GPR50	23	150349152	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	194510	150349152	4921408	2184	78359											
CETN2	1069	broad.mit.edu	37	chrX	151996414	151996414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtctttttcatgatgcGcaggaactcttgctcactga	10	10	4	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:151996414G>A	uc004fgq.2	-	5	537	c.490C>T	c.(490-492)CGC>TGC	p.R164C	CETN2_uc004fgr.2_Missense_Mutation_p.R93C	NM_004344	NP_004335	P41208	CETN2_HUMAN	caltractin	164	EF-hand 4.				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding				0	Acute lymphoblastic leukemia(192;6.56e-05)					TTCATGATGCGCAGGAACTCT	0.393								Direct_reversal_of_damage|NER					A	151996414	G	A	151996414	3	1	131	1	0	0	0	0	1	0	0	0	3275	1087	38	1	32	1	CETN2	23	151996414	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	1647262	151996414	3274146	2185	78360											
ATP2B3	492	broad.mit.edu	37	chrX	152825205	152825205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggactctcctctcaaagccGtgcagatgttgtgggtgaac	12	10	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:152825205G>A	uc004fht.1	+	16	2770	c.2644G>A	c.(2644-2646)GTG>ATG	p.V882M	ATP2B3_uc004fhs.1_Missense_Mutation_p.V882M|ATP2B3_uc010nuf.1_5'Flank|ATP2B3_uc004fhu.1_5'Flank	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	882	Helical; (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTCAAAGCCGTGCAGATGTT	0.617													A	152825205	G	A	152825205	3	1	131	1	0	0	0	0	1	0	0	0	1141	1145	40	1	2706	1	ATP2B3	23	152825205	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	828791	152825205	2445355	2186	78361											
IDH3G	3421	broad.mit.edu	37	chrX	153053016	153053018	+	In_Frame_Del	DEL	TGA	TGA	-													gcgcagggacttggccttggTgatgatcttcaggctctcca							TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:153053016_153053018delTGA	uc004fip.2	-	8	761_763	c.575_577delTCA	c.(574-579)ATCACC>ACC	p.I192del	IDH3G_uc004fio.2_In_Frame_Del_p.I134del|IDH3G_uc004fiq.2_In_Frame_Del_p.I192del|IDH3G_uc010num.2_In_Frame_Del_p.I134del|IDH3G_uc004fir.2_In_Frame_Del_p.I134del|IDH3G_uc004fit.1_In_Frame_Del_p.I192del|IDH3G_uc004fis.2_In_Frame_Del_p.I134del|IDH3G_uc004fiu.2_5'UTR	NM_004135	NP_004126	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma isoform	192					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	TTGGCCTTGGTGATGATCTTCAG	0.586													-	153053018	TGA	-	153053016	7	5	131	1	0	1	0	1	0	0	0	0	7498	1696	59	0	691	0	IDH3G	23	153053016	In_Frame_Del	DEL	TGA	TCGA-BR-A4QL-01A-31D-A25D-08	227811	153053016	2217544	2187	78362											
L1CAM	3897	broad.mit.edu	37	chrX	153131206	153131206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccaggtccaccggccGccacttgaccagcacggcac	12	18	0	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:153131206G>A	uc004fjb.2	-	19	2608	c.2500C>T	c.(2500-2502)CGG>TGG	p.R834W	L1CAM_uc004fjc.2_Missense_Mutation_p.R834W|L1CAM_uc010nuo.2_Missense_Mutation_p.R829W	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	834	Extracellular (Potential).|Fibronectin type-III 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCACCGGCCGCCACTTGACC	0.587													A	153131206	G	A	153131206	3	1	131	1	0	0	0	0	1	0	0	0	8588	1086	38	1	1313	1	L1CAM	23	153131206	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	78190	153131206	2139354	2188	78363											
HCFC1	3054	broad.mit.edu	37	chrX	153219633	153219633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggaaaggagccagcagcGcggtgccagcctggggggtg	20	9	0	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:153219633G>A	uc004fjp.2	-	17	4745	c.4217C>T	c.(4216-4218)GCG>GTG	p.A1406V		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1406					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCCAGCAGCGCGGTGCCAGC	0.672													A	153219633	G	A	153219633	3	1	131	1	0	0	0	0	1	0	0	0	6991	1087	38	1	1930	1	HCFC1	23	153219633	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	88427	153219633	2050927	2189	78364											
HCFC1	3054	broad.mit.edu	37	chrX	153227748	153227748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagactgggcttattccacGtcagggtgtctgcagagaga	14	8	2	3			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:153227748G>A	uc004fjp.2	-	5	1250	c.722C>T	c.(721-723)ACG>ATG	p.T241M		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	241	Kelch 4.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTATTCCACGTCAGGGTGTC	0.567													A	153227748	G	A	153227748	3	1	131	1	0	0	0	0	1	0	0	0	6991	1145	40	1	5473	1	HCFC1	23	153227748	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	8115	153227748	2042812	2190	78365											
MECP2	4204	broad.mit.edu	37	chrX	153296753	153296753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagctttgggagatttggGcttcttaggtggtttctgct	15	5	2	1	rs62621666		TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:153296753G>A	uc004fjv.2	-	4	752	c.526C>T	c.(526-528)CCC>TCC	p.P176S	MECP2_uc004fjw.2_Missense_Mutation_p.P188S	NM_004992	NP_004983	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 1	176					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAGATTTGGGCTTCTTAGGT	0.607													A	153296753	G	A	153296753	3	1	131	1	0	0	0	0	1	0	0	0	9423	1203	42	2	938	2	MECP2	23	153296753	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	69005	153296753	1973807	2191	78366											
OPN1LW	5956	broad.mit.edu	37	chrX	153420113	153420113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcggcagctcgtaccccGgggtgcagtcttacatgatt	12	12	2	1			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:153420113G>A	uc004fjz.3	+	4	676	c.643G>A	c.(643-645)GGG>AGG	p.G215R		NM_020061	NP_064445	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	215	Extracellular.				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCGTACCCCGGGGTGCAGTC	0.607													A	153420113	G	A	153420113	3	1	131	1	0	0	0	0	1	0	0	0	10877	1116	39	1	657	1	OPN1LW	23	153420113	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	123360	153420113	1850447	2192	78367											
OPN1LW	5956	broad.mit.edu	37	chrX	153421957	153421957	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccctgccggcctactttgcCaaaagtgccactatctacaa	7	15	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:153421957C>A	uc004fjz.3	+	5	966	c.933C>A	c.(931-933)GCC>GCA	p.A311A		NM_020061	NP_064445	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	311	Helical; Name=7; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTACTTTGCCAAAAGTGCCA	0.537													A	153421957	C	A	153421957	2	1	131	1	0	0	0	0	0	0	0	1	10877	581	21	5		5	OPN1LW	23	153421957	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	1844	153421957	1848603	2193	78368											
FLNA	2316	broad.mit.edu	37	chrX	153593797	153593797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcagctgtctccttcaccCgcacacccttgggctggagg	11	15	3	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:153593797C>T	uc004fkk.2	-	10	1736	c.1487G>A	c.(1486-1488)CGG>CAG	p.R496Q	FLNA_uc010nuu.1_Missense_Mutation_p.R496Q	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	496	Filamin 3.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCCTTCACCCGCACACCCTT	0.667													T	153593797	C	T	153593797	3	4	131	1	0	0	0	0	1	0	0	0	5933	652	23	1	6612	1	FLNA	23	153593797	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	171840	153593797	1676763	2194	78369											
PLXNA3	55558	broad.mit.edu	37	chrX	153689624	153689624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgagaaatttttcacgtcCaagatcgtgcgcatgtgcgc	12	10	1	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:153689624C>T	uc004flm.2	+	3	953	c.780C>T	c.(778-780)TCC>TCT	p.S260S		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	260	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTTTCACGTCCAAGATCGTGC	0.592													T	153689624	C	T	153689624	2	4	131	1	0	0	0	0	0	0	0	1	12121	581	21	4		4	PLXNA3	23	153689624	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	95827	153689624	1580936	2195	78370											
SLC10A3	8273	broad.mit.edu	37	chrX	153715994	153715994	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atagctgcagcatggccaagGccagcaggctgttctgcacc	12	13	1	0			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:153715994G>T	uc004flq.2	-	3	1550	c.1286C>A	c.(1285-1287)GCC>GAC	p.A429D	UBL4A_uc004flo.2_5'Flank|SLC10A3_uc004flr.2_Missense_Mutation_p.A400D|SLC10A3_uc004flp.2_Missense_Mutation_p.A429D	NM_001142392	NP_001135864	P09131	P3_HUMAN	solute carrier family 10, member 3 isoform 1	429	Helical; (Potential).				organic anion transport	integral to membrane	bile acid:sodium symporter activity			ovary(1)|skin(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATGGCCAAGGCCAGCAGGCT	0.652													T	153715994	G	T	153715994	3	4	131	1	0	0	0	0	1	0	0	0	14375	1203	42	5	151	5	SLC10A3	23	153715994	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	26370	153715994	1554566	2196	78371											
DKC1	1736	broad.mit.edu	37	chrX	154001491	154001491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtgatcatggagagagaCacttaccctcggaagtgggg	15	7	1	4			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:154001491C>T	uc004fmm.2	+	11	1332	c.1122C>T	c.(1120-1122)GAC>GAT	p.D374D	DKC1_uc010nvf.2_Silent_p.D374D|SNORA56_uc004fmo.2_5'Flank	NM_001363	NP_001354	O60832	DKC1_HUMAN	dyskerin isoform 1	374					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity				0	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGAGAGAGACACTTACCCTC	0.418									Congenital_Dyskeratosis				T	154001491	C	T	154001491	2	4	131	1	0	0	0	0	0	0	0	1	4542	477	17	4		4	DKC1	23	154001491	Silent	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	285497	154001491	1269069	2197	78372											
TMLHE	55217	broad.mit.edu	37	chrX	154754197	154754197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactggcagtatccaggctgCgctggtgagtcttagagttg	14	9	1	2	rs145371120	byFrequency	TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:154754197C>T	uc004fnn.2	-	3	444	c.278G>A	c.(277-279)CGC>CAC	p.R93H	TMLHE_uc004fno.2_Missense_Mutation_p.R93H|TMLHE_uc004fnp.3_Missense_Mutation_p.R93H	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	93					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			ovary(1)	1	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	ATCCAGGCTGCGCTGGTGAGT	0.488													T	154754197	C	T	154754197	3	4	131	1	0	0	0	0	1	0	0	0	16229	768	27	1	1151	1	TMLHE	23	154754197	Missense_Mutation	SNP	C	TCGA-BR-A4QL-01A-31D-A25D-08	752706	154754197	516363	2198	78373											
SPRY3	10251	broad.mit.edu	37	chrX	155004342	155004342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcacaccaacactgtgtGcagaaagatctcttctggta	10	10	2	2			TCGA-BR-A4QL-01A-31D-A25D-08	TCGA-BR-A4QL-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4185ac3-7bc5-4881-a6fc-c72a990ce069	99b2d1f8-974a-4bcf-ad2d-84d93081945a	g.chrX:155004342G>A	uc004fnq.1	+	2	1263	c.809G>A	c.(808-810)TGC>TAC	p.C270Y	SPRY3_uc010nvl.1_Missense_Mutation_p.C171Y	NM_005840	NP_005831	O43610	SPY3_HUMAN	sprouty homolog 3	270	Cys-rich.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane					0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AACACTGTGTGCAGAAAGATC	0.562													A	155004342	G	A	155004342	3	1	131	1	0	0	0	0	1	0	0	0	15106	1319	46	2	811	2	SPRY3	23	155004342	Missense_Mutation	SNP	G	TCGA-BR-A4QL-01A-31D-A25D-08	250145	155004342	266218	2199	78374											
PRAMEF1	65121	broad.mit.edu	37	chr1	12854440	12854440	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctggccacgtctgataAgaaagcttcgttgttacctg	10	10	1	2			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:12854440A>C	uc001auj.1	+	3	767	c.664A>C	c.(664-666)AGA>CGA	p.R222R		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	222											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACGTCTGATAAGAAAGCTTCG	0.403													C	12854440	A	C	12854440	2	2	132	1	0	0	0	0	0	0	0	1	12425	64	3	5		5	PRAMEF1	1	12854440	Silent	SNP	A	TCGA-BR-A4QM-01A-12D-A25D-08		12854440	236396181	1	78375											
GRHL3	57822	broad.mit.edu	37	chr1	24669504	24669504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacttctccagcctgcagCgctctggaggggtgaggcca	14	13	2	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:24669504C>T	uc001biy.2	+	11	1469	c.1423C>T	c.(1423-1425)CGC>TGC	p.R475C	GRHL3_uc001bix.2_Missense_Mutation_p.R470C|GRHL3_uc001biz.2_Missense_Mutation_p.R377C	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	470					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CAGCCTGCAGCGCTCTGGAGG	0.652													T	24669504	C	T	24669504	3	4	132	1	0	0	0	0	1	0	0	0	6765	768	27	1	1486	1	GRHL3	1	24669504	Missense_Mutation	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	11815064	24669504	224581117	2	78376											
CSMD2	114784	broad.mit.edu	37	chr1	34042979	34042979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgctgtgtcccaccaggCggtagccggcgttgcagcca	13	15	0	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:34042979C>T	uc001bxn.1	-	50	7528	c.7499G>A	c.(7498-7500)CGC>CAC	p.R2500H	CSMD2_uc001bxm.1_Missense_Mutation_p.R2498H	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2500	Sushi 14.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCCACCAGGCGGTAGCCGGC	0.642													T	34042979	C	T	34042979	3	4	132	1	0	0	0	0	1	0	0	0	3945	768	27	1	3044	1	CSMD2	1	34042979	Missense_Mutation	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	9373475	34042979	215207642	3	78377											
LRRC8B	23507	broad.mit.edu	37	chr1	90058454	90058454	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaccttactcatctggagcTcattggtaattacctggaaa	7	9	3	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:90058454T>C	uc001dni.2	+	8	2771	c.2264T>C	c.(2263-2265)CTC>CCC	p.L755P	LRRC8B_uc001dnh.2_Missense_Mutation_p.L755P|LRRC8B_uc001dnj.2_Missense_Mutation_p.L755P	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	755	LRR 13.					integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		CATCTGGAGCTCATTGGTAAT	0.423													C	90058454	T	C	90058454	3	2	132	1	0	0	0	0	1	0	0	0	9022	1551	54	3	2270	3	LRRC8B	1	90058454	Missense_Mutation	SNP	T	TCGA-BR-A4QM-01A-12D-A25D-08	56015475	90058454	159192167	4	78378											
LRRC8C	84230	broad.mit.edu	37	chr1	90180288	90180288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatgtaacaaagtggaaaGccttccagatgaactctact	7	10	1	2			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:90180288G>A	uc001dnl.3	+	3	2401	c.2159G>A	c.(2158-2160)AGC>AAC	p.S720N		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member	720	LRR 14.					endoplasmic reticulum membrane|integral to membrane				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AAAGTGGAAAGCCTTCCAGAT	0.353													A	90180288	G	A	90180288	3	1	132	1	0	0	0	0	1	0	0	0	9023	971	34	2	2165	2	LRRC8C	1	90180288	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	121834	90180288	159070333	5	78379											
FLG	2312	broad.mit.edu	37	chr1	152284143	152284143	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgaatgtccctcactAtcactggcctgactaccact	5	16	3	2			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:152284143A>G	uc001ezu.1	-	3	3255	c.3219T>C	c.(3217-3219)GAT>GAC	p.D1073D	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1073	Filaggrin 6.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCCTCACTATCACTGGCCT	0.577									Ichthyosis				G	152284143	A	G	152284143	2	3	132	1	0	0	0	0	0	0	0	1	5922	446	16	3		3	FLG	1	152284143	Silent	SNP	A	TCGA-BR-A4QM-01A-12D-A25D-08	62103855	152284143	96966478	6	78380											
FLG2	388698	broad.mit.edu	37	chr1	152324606	152324606	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccccctgagtgcacttcacTgtcactggactcactgtggc	10	15	3	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:152324606T>G	uc001ezw.3	-	3	5729	c.5656A>C	c.(5656-5658)AGT>CGT	p.S1886R	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1886							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCACTTCACTGTCACTGGAC	0.502													G	152324606	T	G	152324606	3	3	132	1	0	0	0	0	1	0	0	0	5923	1580	55	5	1523	5	FLG2	1	152324606	Missense_Mutation	SNP	T	TCGA-BR-A4QM-01A-12D-A25D-08	40463	152324606	96926015	7	78381											
CD1C	911	broad.mit.edu	37	chr1	158262412	158262412	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagaagcctggctgtccagtCgccccagccttgggtctggc	13	15	1	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:158262412C>A	uc001fru.2	+	4	929	c.637C>A	c.(637-639)CGC>AGC	p.R213S	CD1C_uc001frv.2_Missense_Mutation_p.R16S	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	213	Extracellular (Potential).|Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					GCTGTCCAGTCGCCCCAGCCT	0.522													A	158262412	C	A	158262412	3	1	132	1	0	0	0	0	1	0	0	0	2976	884	31	5	651	5	CD1C	1	158262412	Missense_Mutation	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	5937806	158262412	90988209	8	78382											
ZNF281	23528	broad.mit.edu	37	chr1	200378016	200378016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgtctccgcaggtgatagGagcttcggaaagcagcacta	12	10	1	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:200378016G>A	uc001gve.2	-	2	925	c.818C>T	c.(817-819)TCC>TTC	p.S273F	uc010ppi.1_5'Flank|ZNF281_uc001gvf.1_Missense_Mutation_p.S273F|ZNF281_uc001gvg.1_Missense_Mutation_p.S237F	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	273	C2H2-type 1.				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)	2						CAGGTGATAGGAGCTTCGGAA	0.468													A	200378016	G	A	200378016	3	1	132	1	0	0	0	0	1	0	0	0	17815	1174	41	4	1873	4	ZNF281	1	200378016	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	42115604	200378016	48872605	9	78383											
SYT14	255928	broad.mit.edu	37	chr1	210334256	210334256	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataacaaacgcagcatgaaaAgaaaagagatgataggctgg	11	5	0	4			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:210334256A>G	uc009xcv.2	+	8	1609	c.1537A>G	c.(1537-1539)AGA>GGA	p.R513G	SYT14_uc001hhs.3_Missense_Mutation_p.R577G|SYT14_uc001hht.3_Missense_Mutation_p.R532G|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.R558G|SYT14_uc010pso.1_Missense_Mutation_p.R475G|SYT14_uc010psp.1_Missense_Mutation_p.R51G	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN	synaptotagmin XIV isoform 4	513	Cytoplasmic (Potential).|C2 2.					integral to membrane				ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.085)		CAGCATGAAAAGAAAAGAGAT	0.388													G	210334256	A	G	210334256	3	3	132	1	0	0	0	0	1	0	0	0	15467	64	3	3	1767	3	SYT14	1	210334256	Missense_Mutation	SNP	A	TCGA-BR-A4QM-01A-12D-A25D-08	9956240	210334256	38916365	10	78384											
ESRRG	2104	broad.mit.edu	37	chr1	216850654	216850654	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtagagaggtggcgagtcaAgtccgttctgatggccattc	15	8	2	2			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:216850654A>C	uc001hkw.1	-	2	402	c.236T>G	c.(235-237)CTT>CGT	p.L79R	ESRRG_uc001hky.1_Missense_Mutation_p.L56R|ESRRG_uc009xdp.1_Missense_Mutation_p.L56R|ESRRG_uc001hkz.1_Missense_Mutation_p.L56R|ESRRG_uc010puc.1_Missense_Mutation_p.L56R|ESRRG_uc001hla.1_Missense_Mutation_p.L56R|ESRRG_uc001hlb.1_Missense_Mutation_p.L56R|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.L56R|ESRRG_uc001hld.1_Missense_Mutation_p.L56R|ESRRG_uc001hkx.1_Missense_Mutation_p.L84R|ESRRG_uc009xdo.1_Missense_Mutation_p.L56R|ESRRG_uc001hle.1_Missense_Mutation_p.L56R	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	79					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TGGCGAGTCAAGTCCGTTCTG	0.567													C	216850654	A	C	216850654	3	2	132	1	0	0	0	0	1	0	0	0	5262	72	3	5	1164	5	ESRRG	1	216850654	Missense_Mutation	SNP	A	TCGA-BR-A4QM-01A-12D-A25D-08	6516398	216850654	32399967	11	78385											
WNT3A	89780	broad.mit.edu	37	chr1	228246882	228246882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggagaccctgcggccgCgctacacctacttcaaggtg	14	13	1	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:228246882C>T	uc001hrq.1	+	4	853	c.775C>T	c.(775-777)CGC>TGC	p.R259C	WNT3A_uc001hrp.1_Missense_Mutation_p.R259C	NM_033131	NP_149122	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family,	259					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			ovary(1)	1		Prostate(94;0.0405)				CCTGCGGCCGCGCTACACCTA	0.657													T	228246882	C	T	228246882	3	4	132	1	0	0	0	0	1	0	0	0	17386	768	27	1	789	1	WNT3A	1	228246882	Missense_Mutation	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	11396228	228246882	21003739	12	78386											
HEATR1	55127	broad.mit.edu	37	chr1	236723047	236723047	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtaagctttactaaggagCgcgcgccagaacttcacggt	11	11	1	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:236723047C>T	uc001hyd.1	-	34	4862	c.4737G>A	c.(4735-4737)GCG>GCA	p.A1579A	HEATR1_uc009xgh.1_Silent_p.A741A	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1579					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TACTAAGGAGCGCGCGCCAGA	0.433													T	236723047	C	T	236723047	2	4	132	1	0	0	0	0	0	0	0	1	7027	755	27	1		1	HEATR1	1	236723047	Silent	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	8476165	236723047	12527574	13	78387											
OR2G2	81470	broad.mit.edu	37	chr1	247752194	247752194	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggcatcgccaagtggAtcatttcatctgcgaggtcc	12	11	3	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:247752194A>G	uc010pyy.1	+	1	533	c.533A>G	c.(532-534)GAT>GGT	p.D178G		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	178	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CGCCAAGTGGATCATTTCATC	0.537													G	247752194	A	G	247752194	3	3	132	1	0	0	0	0	1	0	0	0	10998	333	12	3	535	3	OR2G2	1	247752194	Missense_Mutation	SNP	A	TCGA-BR-A4QM-01A-12D-A25D-08	11029147	247752194	1498427	14	78388											
FNDC4	64838	broad.mit.edu	37	chr2	27717235	27717235	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacttgctgggaaatggagtAgccaatgacgatgttgcctt	12	7	0	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr2:27717235A>C	uc002rkx.2	-	3	638	c.232T>G	c.(232-234)TAC>GAC	p.Y78D	GCKR_uc002rky.2_5'Flank|GCKR_uc010ezd.2_5'Flank|GCKR_uc010ylu.1_5'Flank	NM_022823	NP_073734	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	78	Extracellular (Potential).|Fibronectin type-III.					integral to membrane					0	Acute lymphoblastic leukemia(172;0.155)					GAAATGGAGTAGCCAATGACG	0.552													C	27717235	A	C	27717235	3	2	132	1	0	0	0	0	1	0	0	0	5971	420	15	5	492	5	FNDC4	2	27717235	Missense_Mutation	SNP	A	TCGA-BR-A4QM-01A-12D-A25D-08		27717235	215482138	15	78389											
KCMF1	56888	broad.mit.edu	37	chr2	85276556	85276556	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaattcctctggcccttcCgcttctcagttacaacaact	4	15	2	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr2:85276556C>T	uc002sox.3	+	6	1013	c.669C>T	c.(667-669)TCC>TCT	p.S223S		NM_020122	NP_064507	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	223						intracellular	ligase activity|zinc ion binding			ovary(2)	2						CTGGCCCTTCCGCTTCTCAGT	0.527													T	85276556	C	T	85276556	2	4	132	1	0	0	0	0	0	0	0	1	8000	639	23	1		1	KCMF1	2	85276556	Silent	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	57559321	85276556	157922817	16	78390											
TTN	7273	broad.mit.edu	37	chr2	179605766	179605766	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caatttcctgctctgagtcaAgtgcttcaactgcgggaccc	9	13	3	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr2:179605766A>T	uc010zfh.1	-	46	11905	c.11681T>A	c.(11680-11682)CTT>CAT	p.L3894H	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.L3827H|TTN_uc010zfj.1_Missense_Mutation_p.L3702H|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	3835							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTGAGTCAAGTGCTTCAAC	0.443													T	179605766	A	T	179605766	3	4	132	1	0	0	0	0	1	0	0	0	16732	72	3	5	92595	5	TTN	2	179605766	Missense_Mutation	SNP	A	TCGA-BR-A4QM-01A-12D-A25D-08	94329210	179605766	63593607	17	78391											
SLC11A1	6556	broad.mit.edu	37	chr2	219251895	219251895	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtttcagaatcccactctgGggtggcgtcctcatcaccat	10	13	4	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr2:219251895G>T	uc002vhv.2	+	6	853	c.513G>T	c.(511-513)TGG>TGT	p.W171C	SLC11A1_uc010zkb.1_3'UTR|SLC11A1_uc010fvp.1_Missense_Mutation_p.W171C|SLC11A1_uc010fvq.1_Missense_Mutation_p.W104C|SLC11A1_uc010zkc.1_Missense_Mutation_p.W104C|SLC11A1_uc002vhu.1_5'UTR|SLC11A1_uc002vhw.2_Missense_Mutation_p.W53C|SLC11A1_uc010fvr.2_5'UTR	NM_000578	NP_000569	P49279	NRAM1_HUMAN	natural resistance-associated macrophage protein	171	Helical; (Potential).				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			ovary(3)|central_nervous_system(1)	4		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCACTCTGGGGTGGCGTCC	0.602													T	219251895	G	T	219251895	3	4	132	1	0	0	0	0	1	0	0	0	14380	1241	43	5	535	5	SLC11A1	2	219251895	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	39646129	219251895	23947478	18	78392											
ITGA9	3680	broad.mit.edu	37	chr3	37555268	37555268	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgcagatgggctcttacttCggctcctccttgtgcgcagt	11	12	1	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr3:37555268C>T	uc003chd.2	+	9	965	c.912C>T	c.(910-912)TTC>TTT	p.F304F	ITGA9_uc003chc.2_Silent_p.F304F	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	304	Extracellular (Potential).|FG-GAP 5.				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GCTCTTACTTCGGCTCCTCCT	0.552													T	37555268	C	T	37555268	2	4	132	1	0	0	0	0	0	0	0	1	7883	883	31	1		1	ITGA9	3	37555268	Silent	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08		37555268	160467162	19	78393											
SCN5A	6331	broad.mit.edu	37	chr3	38640419	38640419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgctgaccttccagtgcGctggtgaggacgctgactgc	15	11	0	3			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr3:38640419G>A	uc003cio.2	-	13	2207	c.2013C>T	c.(2011-2013)AGC>AGT	p.S671S	SCN5A_uc003cin.2_Silent_p.S671S|SCN5A_uc003cil.3_Silent_p.S671S|SCN5A_uc010hhi.2_Silent_p.S671S|SCN5A_uc010hhk.2_Silent_p.S671S|SCN5A_uc011ayr.1_Silent_p.S671S|SCN5A_uc010hhj.1_Silent_p.S282S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	671					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTTCCAGTGCGCTGGTGAGGA	0.637													A	38640419	G	A	38640419	2	1	132	1	0	0	0	0	0	0	0	1	13922	1078	38	1		1	SCN5A	3	38640419	Silent	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	1085151	38640419	159382011	20	78394											
RHOA	387	broad.mit.edu	37	chr3	49412905	49412905	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatatctgccacatagttctCaaacactgtgggcacataca	7	11	2	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr3:49412905C>T	uc003cwu.2	-	2	394	c.118G>A	c.(118-120)GAG>AAG	p.E40K	RHOA_uc010hku.2_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	40	Effector region (Potential).				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	ACATAGTTCTCAAACACTGTG	0.438													T	49412905	C	T	49412905	3	4	132	1	0	0	0	0	1	0	0	0	13331	835	29	4	479	4	RHOA	3	49412905	Missense_Mutation	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	10772486	49412905	148609525	21	78395											
CACNA2D3	55799	broad.mit.edu	37	chr3	54604065	54604065	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggactccgtctgactatCgcgaagcaaacagtctcatc	8	12	2	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr3:54604065C>T	uc003dhf.2	+	8	870	c.822C>T	c.(820-822)ATC>ATT	p.I274I	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Silent_p.I180I|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Silent_p.I8I	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	274	Extracellular (Potential).|VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GTCTGACTATCGCGAAGCAAA	0.463													T	54604065	C	T	54604065	2	4	132	1	0	0	0	0	0	0	0	1	2550	874	31	1		1	CACNA2D3	3	54604065	Silent	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	5191160	54604065	143418365	22	78396											
ROBO1	6091	broad.mit.edu	37	chr3	78684982	78684982	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgccacttcttgtttcTgctgtcccagtggtttccag	10	12	2	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr3:78684982T>C	uc003dqe.2	-	23	3522	c.3314A>G	c.(3313-3315)CAG>CGG	p.Q1105R	ROBO1_uc003dqb.2_Missense_Mutation_p.Q1066R|ROBO1_uc003dqc.2_Missense_Mutation_p.Q1005R|ROBO1_uc003dqd.2_Missense_Mutation_p.Q1060R|ROBO1_uc010hoh.2_Missense_Mutation_p.Q297R|ROBO1_uc011bgl.1_Missense_Mutation_p.Q677R	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1105	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTCTTGTTTCTGCTGTCCCAG	0.493													C	78684982	T	C	78684982	3	2	132	1	0	0	0	0	1	0	0	0	13513	1580	55	3	1677	3	ROBO1	3	78684982	Missense_Mutation	SNP	T	TCGA-BR-A4QM-01A-12D-A25D-08	24080917	78684982	119337448	23	78397											
GRAMD1C	54762	broad.mit.edu	37	chr3	113652378	113652378	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactgtataaagaaagtcgGgaagcacgattttatttggt	10	5	0	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr3:113652378G>A	uc003eaq.3	+	12	1306	c.1230G>A	c.(1228-1230)CGG>CGA	p.R410R	GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA|GRAMD1C_uc003ear.2_Silent_p.R243R|GRAMD1C_uc003eas.2_Silent_p.R205R|GRAMD1C_uc003eat.2_Silent_p.R69R	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	410						integral to membrane				ovary(2)|skin(1)	3						AAGAAAGTCGGGAAGCACGAT	0.333													A	113652378	G	A	113652378	2	1	132	1	0	0	0	0	0	0	0	1	6749	1219	43	4		4	GRAMD1C	3	113652378	Silent	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	34967396	113652378	84370052	24	78398											
ZNF80	7634	broad.mit.edu	37	chr3	113955522	113955522	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttccacactcgctgcactCatagggcttctctccagtgt	7	15	2	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr3:113955522C>T	uc010hqo.2	-	1	904	c.400G>A	c.(400-402)GAG>AAG	p.E134K	ZNF80_uc003ebf.2_RNA	NM_007136	NP_009067	P51504	ZNF80_HUMAN	zinc finger protein 80	134	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TCGCTGCACTCATAGGGCTTC	0.542													T	113955522	C	T	113955522	3	4	132	1	0	0	0	0	1	0	0	0	18165	835	29	4	425	4	ZNF80	3	113955522	Missense_Mutation	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	303144	113955522	84066908	25	78399											
MYLK	4638	broad.mit.edu	37	chr3	123376108	123376108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgttgaaagaggtgctgcGgcatgtggctagttccttcc	14	9	0	2			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr3:123376108G>A	uc003ego.2	-	24	4435	c.4153C>T	c.(4153-4155)CGC>TGC	p.R1385C	MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Missense_Mutation_p.R185C|MYLK_uc011bjw.1_Missense_Mutation_p.R1385C|MYLK_uc003egp.2_Missense_Mutation_p.R1316C|MYLK_uc003egq.2_Missense_Mutation_p.R1385C|MYLK_uc003egr.2_Missense_Mutation_p.R1316C|MYLK_uc003egs.2_Missense_Mutation_p.R1209C	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1385	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GAGGTGCTGCGGCATGTGGCT	0.537													A	123376108	G	A	123376108	3	1	132	1	0	0	0	0	1	0	0	0	10056	1116	39	1	1635	1	MYLK	3	123376108	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	9420586	123376108	74646322	26	78400											
CHST2	9435	broad.mit.edu	37	chr3	142840282	142840282	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaaactgtatccgggggaCgccgtttccctgcagggggc	14	12	0	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr3:142840282C>T	uc003evm.2	+	2	1513	c.624C>T	c.(622-624)GAC>GAT	p.D208D		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	208	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3						ATCCGGGGGACGCCGTTTCCC	0.607													T	142840282	C	T	142840282	2	4	132	1	0	0	0	0	0	0	0	1	3404	535	19	1		1	CHST2	3	142840282	Silent	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	19464174	142840282	55182148	27	78401											
DHX15	1665	broad.mit.edu	37	chr4	24558017	24558017	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catagcttcacgaagtaacaTcccatcagtcatatacctat	4	12	3	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr4:24558017T>C	uc003gqx.2	-	4	886	c.718A>G	c.(718-720)ATG>GTG	p.M240V		NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	240	Helicase ATP-binding.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)				CGAAGTAACATCCCATCAGTC	0.383													C	24558017	T	C	24558017	3	2	132	1	0	0	0	0	1	0	0	0	4501	1435	50	3	1713	3	DHX15	4	24558017	Missense_Mutation	SNP	T	TCGA-BR-A4QM-01A-12D-A25D-08		24558017	166596259	28	78402											
TLR10	81793	broad.mit.edu	37	chr4	38777160	38777160	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagctctggagcatcaccctCtgctgtcataacaatactac	6	14	4	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr4:38777160C>T	uc003gti.2	-	2	431	c.52G>A	c.(52-54)GAG>AAG	p.E18K	TLR10_uc003gtj.2_Missense_Mutation_p.E18K|TLR10_uc003gtk.2_Missense_Mutation_p.E18K	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	18					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2						GCATCACCCTCTGCTGTCATA	0.418													T	38777160	C	T	38777160	3	4	132	1	0	0	0	0	1	0	0	0	15947	922	32	4	2387	4	TLR10	4	38777160	Missense_Mutation	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	14219143	38777160	152377116	29	78403											
ADAMTS3	9508	broad.mit.edu	37	chr4	73156747	73156747	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccagaacttccacaggttTtggtgcagtgttcccattct	9	11	1	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr4:73156747T>C	uc003hgk.1	-	20	2793	c.2756A>G	c.(2755-2757)AAA>AGA	p.K919R		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	919	TSP type-1 3.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCCACAGGTTTTGGTGCAGTG	0.488													C	73156747	T	C	73156747	3	2	132	1	0	0	0	0	1	0	0	0	267	1841	64	3	873	3	ADAMTS3	4	73156747	Missense_Mutation	SNP	T	TCGA-BR-A4QM-01A-12D-A25D-08	34379587	73156747	117997529	30	78404											
ANXA3	306	broad.mit.edu	37	chr4	79500235	79500235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagaggtcaaatgcacagcGgcagctgattgttaaggaat	13	6	1	2	rs146728751	byFrequency	TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr4:79500235G>A	uc003hld.2	+	4	468	c.158G>A	c.(157-159)CGG>CAG	p.R53Q	ANXA3_uc003hle.2_Missense_Mutation_p.R14Q|ANXA3_uc010ijk.2_Missense_Mutation_p.R14Q	NM_005139	NP_005130	P12429	ANXA3_HUMAN	annexin A3	53	Annexin 1.				defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity				0						AATGCACAGCGGCAGCTGATT	0.383													A	79500235	G	A	79500235	3	1	132	1	0	0	0	0	1	0	0	0	719	1116	39	1	168	1	ANXA3	4	79500235	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	6343488	79500235	111654041	31	78405											
WDFY3	23001	broad.mit.edu	37	chr4	85661555	85661555	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcatccagtgacaatccctgTgatcttctctttgactaaag	7	11	2	3			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr4:85661555T>A	uc003hpd.2	-	39	6657	c.6249A>T	c.(6247-6249)TCA>TCT	p.S2083S		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2083						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACAATCCCTGTGATCTTCTCT	0.348													A	85661555	T	A	85661555	2	1	132	1	0	0	0	0	0	0	0	1	17267	1683	59	5		5	WDFY3	4	85661555	Silent	SNP	T	TCGA-BR-A4QM-01A-12D-A25D-08	6161320	85661555	105492721	32	78406											
PTPN13	5783	broad.mit.edu	37	chr4	87643423	87643423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaagagatcatgctaaaaCggcaagaggaagaactgatg	11	6	2	4			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr4:87643423C>T	uc003hpz.2	+	10	1924	c.1444C>T	c.(1444-1446)CGG>TGG	p.R482W	PTPN13_uc003hpy.2_Missense_Mutation_p.R482W|PTPN13_uc003hqa.2_Missense_Mutation_p.R482W|PTPN13_uc003hqb.2_Missense_Mutation_p.R482W	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	482	Potential.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CATGCTAAAACGGCAAGAGGA	0.433													T	87643423	C	T	87643423	3	4	132	1	0	0	0	0	1	0	0	0	12782	527	19	1	1478	1	PTPN13	4	87643423	Missense_Mutation	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	1981868	87643423	103510853	33	78407											
ADAD1	132612	broad.mit.edu	37	chr4	123336638	123336638	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttttacttagtcaacagaCctcatattagtttagtaccc	5	9	2	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr4:123336638C>A	uc003ieo.2	+	11	1586	c.1354C>A	c.(1354-1356)CCT>ACT	p.P452T	ADAD1_uc003iep.2_Missense_Mutation_p.P441T|ADAD1_uc003ieq.2_Missense_Mutation_p.P434T	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	452	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						AGTCAACAGACCTCATATTAG	0.383													A	123336638	C	A	123336638	3	1	132	1	0	0	0	0	1	0	0	0	231	507	18	5	1388	5	ADAD1	4	123336638	Missense_Mutation	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	35693215	123336638	67817638	34	78408											
FAT4	79633	broad.mit.edu	37	chr4	126238415	126238415	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggacgagggcaccaacgcGgacatccgctatcgcctgca	13	15	0	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr4:126238415G>A	uc003ifj.3	+	1	849	c.849G>A	c.(847-849)GCG>GCA	p.A283A		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	283	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GCACCAACGCGGACATCCGCT	0.672											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	126238415	G	A	126238415	2	1	132	1	0	0	0	0	0	0	0	1	5692	1103	39	1		1	FAT4	4	126238415	Silent	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	2901777	126238415	64915861	35	78409											
FAT4	79633	broad.mit.edu	37	chr4	126370752	126370752	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taagtacagatgtcacaataTttgtgacagacatcaatgac	7	7	2	4			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr4:126370752T>G	uc003ifj.3	+	9	8581	c.8581T>G	c.(8581-8583)TTT>GTT	p.F2861V	FAT4_uc011cgp.1_Missense_Mutation_p.F1159V|FAT4_uc003ifi.1_Missense_Mutation_p.F339V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2861	Cadherin 27.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGTCACAATATTTGTGACAGA	0.398													G	126370752	T	G	126370752	3	3	132	1	0	0	0	0	1	0	0	0	5692	1493	52	5	8615	5	FAT4	4	126370752	Missense_Mutation	SNP	T	TCGA-BR-A4QM-01A-12D-A25D-08	132337	126370752	64783524	36	78410											
DCHS2	54798	broad.mit.edu	37	chr4	155157788	155157788	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgctttccttgacatgGgtgtgatagctcaggctgct	15	8	1	2			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr4:155157788G>T	uc003inw.2	-	25	6651	c.6651C>A	c.(6649-6651)ACC>ACA	p.T2217T		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2217	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCTTGACATGGGTGTGATAGC	0.478													T	155157788	G	T	155157788	2	4	132	1	0	0	0	0	0	0	0	1	4288	1219	43	5		5	DCHS2	4	155157788	Silent	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	28787036	155157788	35996488	37	78411											
FAM105B	90268	broad.mit.edu	37	chr5	14681649	14681649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactgtgcactgagggccaCgctgttccaggccatgagcc	12	13	0	2			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr5:14681649C>T	uc003jfk.2	+	4	553	c.401C>T	c.(400-402)ACG>ATG	p.T134M		NM_138348	NP_612357	Q96BN8	F105B_HUMAN	hypothetical protein LOC90268	134										ovary(2)	2	Lung NSC(4;0.00696)					CTGAGGGCCACGCTGTTCCAG	0.562													T	14681649	C	T	14681649	3	4	132	1	0	0	0	0	1	0	0	0	5388	536	19	1	415	1	FAM105B	5	14681649	Missense_Mutation	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08		14681649	166233611	38	78412											
MEF2C	4208	broad.mit.edu	37	chr5	88018596	88018596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaacaggagatctccccGcctcgtggcgcgtgtgttgt	13	12	2	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr5:88018596G>A	uc003kjj.2	-	11	1920	c.1247C>T	c.(1246-1248)GCG>GTG	p.A416V	MEF2C_uc003kji.2_Missense_Mutation_p.A408V|MEF2C_uc003kjk.2_Missense_Mutation_p.A416V|MEF2C_uc003kjm.2_Missense_Mutation_p.A406V|MEF2C_uc003kjl.2_Missense_Mutation_p.A426V	NM_002397	NP_002388	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C isoform 1	416					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(3)|breast(2)|ovary(1)|large_intestine(1)	7		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		AGATCTCCCCGCCTCGTGGCG	0.562										HNSCC(66;0.2)			A	88018596	G	A	88018596	3	1	132	1	0	0	0	0	1	0	0	0	9457	1087	38	1	178	1	MEF2C	5	88018596	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	73336947	88018596	92896664	39	78413											
AQPEP	206338	broad.mit.edu	37	chr5	115298413	115298413	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctggcgctggccgtactCgccgccttgtacggccactg	13	16	0	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr5:115298413C>T	uc003kro.2	+	1	263	c.99C>T	c.(97-99)CTC>CTT	p.L33L	AQPEP_uc003krp.2_RNA|uc003krn.1_5'UTR	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	33	Helical; Signal-anchor for type II membrane protein; (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						TGGCCGTACTCGCCGCCTTGT	0.692													T	115298413	C	T	115298413	2	4	132	1	0	0	0	0	0	0	0	1	834	871	31	1		1	AQPEP	5	115298413	Silent	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	27279817	115298413	65616847	40	78414											
PCDHA5	56143	broad.mit.edu	37	chr5	140203412	140203412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcgcgggcgtcggcgggCgctgtgggtcccgaggctgc	19	13	1	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr5:140203412C>T	uc003lhl.2	+	1	2052	c.2052C>T	c.(2050-2052)GGC>GGT	p.G684G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.G684G|PCDHA5_uc003lhj.1_Silent_p.G684G	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	684	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCGGCGGGCGCTGTGGGTC	0.662													T	140203412	C	T	140203412	2	4	132	1	0	0	0	0	0	0	0	1	11527	755	27	1		1	PCDHA5	5	140203412	Silent	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	24904999	140203412	40711848	41	78415											
PCDHA12	56137	broad.mit.edu	37	chr5	140256720	140256720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgacgctgcaggtgttcGtgctggacgagaacgacaac	14	10	0	2			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr5:140256720G>A	uc003lic.2	+	1	1790	c.1663G>A	c.(1663-1665)GTG>ATG	p.V555M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.V555M	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	555	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGTGTTCGTGCTGGACGA	0.701													A	140256720	G	A	140256720	3	1	132	1	0	0	0	0	1	0	0	0	11522	1145	40	1	1665	1	PCDHA12	5	140256720	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	53308	140256720	40658540	42	78416											
PCDHB8	56128	broad.mit.edu	37	chr5	140558894	140558894	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactatcaccgtcactgacTtagggacacccaggctgaca	8	14	3	2			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr5:140558894T>C	uc011dai.1	+	1	1465	c.1279T>C	c.(1279-1281)TTA>CTA	p.L427L	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	427	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTCACTGACTTAGGGACACC	0.517													C	140558894	T	C	140558894	2	2	132	1	0	0	0	0	0	0	0	1	11548	1606	56	3		3	PCDHB8	5	140558894	Silent	SNP	T	TCGA-BR-A4QM-01A-12D-A25D-08	302174	140558894	40356366	43	78417											
RNF145	153830	broad.mit.edu	37	chr5	158630531	158630531	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggatctgctggaaaaaggagCtgacatcccatctgtacagg	12	9	2	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr5:158630531C>G	uc003lxp.2	-	2	408	c.95G>C	c.(94-96)AGC>ACC	p.S32T	RNF145_uc011ddy.1_Missense_Mutation_p.S46T|RNF145_uc003lxo.1_Missense_Mutation_p.S60T|RNF145_uc011ddz.1_Missense_Mutation_p.S49T|RNF145_uc010jiq.1_Missense_Mutation_p.S62T|RNF145_uc011dea.1_Missense_Mutation_p.S48T	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	32						integral to membrane	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAAAAGGAGCTGACATCCCA	0.438													G	158630531	C	G	158630531	3	3	132	1	0	0	0	0	1	0	0	0	13447	797	28	5	1936	5	RNF145	5	158630531	Missense_Mutation	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	18071637	158630531	22284729	44	78418											
RGS14	10636	broad.mit.edu	37	chr5	176797932	176797932	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctgacggcgctggagcgcgTggtacgaatctcagccaagc	15	12	1	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr5:176797932T>A	uc003mgf.2	+	11	1336	c.1154T>A	c.(1153-1155)GTG>GAG	p.V385E	RGS14_uc003mgh.2_Missense_Mutation_p.V233E|RGS14_uc003mgi.2_Missense_Mutation_p.V156E|RGS14_uc003mgj.2_5'Flank	NM_006480	NP_006471	O43566	RGS14_HUMAN	regulator of G-protein signalling 14	385	RBD 2.|Necessary for interaction with RABGEF1 (By similarity).				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			lung(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGAGCGCGTGGTACGAATC	0.692													A	176797932	T	A	176797932	3	1	132	1	0	0	0	0	1	0	0	0	13297	1696	59	5	1196	5	RGS14	5	176797932	Missense_Mutation	SNP	T	TCGA-BR-A4QM-01A-12D-A25D-08	18167401	176797932	4117328	45	78419											
OR2Y1	134083	broad.mit.edu	37	chr5	180166621	180166621	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaacccgcaccccaggaggcGatagccagggtctggcagag	14	13	1	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr5:180166621G>A	uc003mmf.1	-	1	438	c.438C>T	c.(436-438)ATC>ATT	p.I146I		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y,	146	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCAGGAGGCGATAGCCAGGG	0.572													A	180166621	G	A	180166621	2	1	132	1	0	0	0	0	0	0	0	1	11035	1048	37	1		1	OR2Y1	5	180166621	Silent	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	3368689	180166621	748639	46	78420											
UBR2	23304	broad.mit.edu	37	chr6	42625808	42625808	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctagcatactagctatgctGgaaacactacaaaatgctcc	6	12	0	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr6:42625808G>A	uc011dur.1	+	27	2919	c.2919G>A	c.(2917-2919)CTG>CTA	p.L973L	UBR2_uc011dus.1_Silent_p.L618L|UBR2_uc003osh.2_RNA	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	973					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TAGCTATGCTGGAAACACTAC	0.378													A	42625808	G	A	42625808	2	1	132	1	0	0	0	0	0	0	0	1	16899	1335	47	4		4	UBR2	6	42625808	Silent	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08		42625808	128489259	47	78421											
UBE2CBP	90025	broad.mit.edu	37	chr6	83767606	83767606	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatctccaacaacaaactgTagcccacggcaagaggaagg	9	13	1	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr6:83767606T>C	uc003pjp.2	-	2	321	c.213A>G	c.(211-213)CTA>CTG	p.L71L	UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjr.2_Silent_p.L39L	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN	ubiquitin-conjugating enzyme E2C binding	71						cytoplasm	ligase activity			ovary(1)	1		all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548)		BRCA - Breast invasive adenocarcinoma(397;0.0944)		CAACAAACTGTAGCCCACGGC	0.483											OREG0017549	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	83767606	T	C	83767606	2	2	132	1	0	0	0	0	0	0	0	1	16844	1625	57	3		3	UBE2CBP	6	83767606	Silent	SNP	T	TCGA-BR-A4QM-01A-12D-A25D-08	41141798	83767606	87347461	48	78422											
GRIK2	2898	broad.mit.edu	37	chr6	102074313	102074313	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccttcacacagctcatcAgcaaacgcagtgcagtccat	9	14	3	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr6:102074313A>G	uc003pqp.3	+	3	591	c.342A>G	c.(340-342)TCA>TCG	p.S114S	GRIK2_uc003pqn.2_Silent_p.S114S|GRIK2_uc003pqo.3_Silent_p.S114S|GRIK2_uc010kcw.2_Silent_p.S114S	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	114	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ACAGCTCATCAGCAAACGCAG	0.517													G	102074313	A	G	102074313	2	3	132	1	0	0	0	0	0	0	0	1	6774	175	7	3		3	GRIK2	6	102074313	Silent	SNP	A	TCGA-BR-A4QM-01A-12D-A25D-08	18306707	102074313	69040754	49	78423											
AP1S1	1174	broad.mit.edu	37	chr7	100799921	100799921	+	Frame_Shift_Del	DEL	A	A	-													gcagggaaaactgcggctgcAaaaatggtacctggccactt							TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr7:100799921delA	uc003uxv.3	+	2	160	c.50delA	c.(49-51)CAAfs	p.Q17fs		NM_001283	NP_001274	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1	17					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)					CTGCGGCTGCAAAAATGGTAC	0.547													-	100799921	A	-	100799921	7	5	132	1	0	1	0	1	0	0	0	0	736	130	5	0	56	0	AP1S1	7	100799921	Frame_Shift_Del	DEL	A	TCGA-BR-A4QM-01A-12D-A25D-08		100799921	58338742	50	78424											
DGKI	9162	broad.mit.edu	37	chr7	137237196	137237196	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagggagatccgaatcataGctggggccaacctacagggc	13	11	2	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr7:137237196G>T	uc003vtt.2	-	20	2067	c.2066C>A	c.(2065-2067)GCT>GAT	p.A689D	DGKI_uc003vtu.2_Missense_Mutation_p.A389D	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	689					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						CCGAATCATAGCTGGGGCCAA	0.517													T	137237196	G	T	137237196	3	4	132	1	0	0	0	0	1	0	0	0	4471	971	34	5	1191	5	DGKI	7	137237196	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	36437275	137237196	21901467	51	78425											
CNBD1	168975	broad.mit.edu	37	chr8	88365898	88365898	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttgtttatatggggaaacTtaaggagaaggagtcctttg	12	4	0	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr8:88365898T>A	uc003ydy.2	+	10	1235	c.1187T>A	c.(1186-1188)CTT>CAT	p.L396H		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	396	cNMP.									ovary(3)	3						ATGGGGAAACTTAAGGAGAAG	0.323													A	88365898	T	A	88365898	3	1	132	1	0	0	0	0	1	0	0	0	3591	1609	56	5	1225	5	CNBD1	8	88365898	Missense_Mutation	SNP	T	TCGA-BR-A4QM-01A-12D-A25D-08		88365898	57998124	52	78426											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885868	88885868	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcgggtatacccggagcTcaggggtcgtcaggcctcgc	16	12	2	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr8:88885868T>C	uc003ydz.2	-	1	429	c.332A>G	c.(331-333)GAG>GGG	p.E111G		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	111										ovary(1)	1						TACCCGGAGCTCAGGGGTCGT	0.547													C	88885868	T	C	88885868	3	2	132	1	0	0	0	0	1	0	0	0	4272	1551	54	3	859	3	DCAF4L2	8	88885868	Missense_Mutation	SNP	T	TCGA-BR-A4QM-01A-12D-A25D-08	519970	88885868	57478154	53	78427											
RIMS2	9699	broad.mit.edu	37	chr8	104898169	104898169	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacccatagatagaccagacTtgaggcgtactgactcacta	8	11	1	5			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr8:104898169T>C	uc003yls.2	+	2	917	c.676T>C	c.(676-678)TTG>CTG	p.L226L	RIMS2_uc003ylp.2_Silent_p.L448L|RIMS2_uc003ylw.2_Silent_p.L256L|RIMS2_uc003ylq.2_Silent_p.L256L|RIMS2_uc003ylr.2_Silent_p.L256L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	479					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAGACCAGACTTGAGGCGTAC	0.463										HNSCC(12;0.0054)			C	104898169	T	C	104898169	2	2	132	1	0	0	0	0	0	0	0	1	13368	1606	56	3		3	RIMS2	8	104898169	Silent	SNP	T	TCGA-BR-A4QM-01A-12D-A25D-08	16012301	104898169	41465853	54	78428											
C9orf150	286343	broad.mit.edu	37	chr9	12821406	12821406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaacctcagagccacagacGtcaggctcatgcgccagttg	10	13	3	2	rs143572342	byFrequency	TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr9:12821406G>A	uc003zkw.2	+	2	1037	c.334G>A	c.(334-336)GTC>ATC	p.V112I		NM_203403	NP_981948	Q8IV03	CI150_HUMAN	hypothetical protein LOC286343	115											0				GBM - Glioblastoma multiforme(1;1.64e-13)		AGCCACAGACGTCAGGCTCAT	0.478													A	12821406	G	A	12821406	3	1	132	1	0	0	0	0	1	0	0	0	2462	1145	40	1	340	1	C9orf150	9	12821406	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08		12821406	128392025	55	78429											
MCM10	55388	broad.mit.edu	37	chr10	13234491	13234491	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccatcaagtccatctcGgcctcagcactcttgaagca	7	16	4	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr10:13234491G>A	uc001ima.2	+	13	1772	c.1671G>A	c.(1669-1671)TCG>TCA	p.S557S	MCM10_uc001imb.2_Silent_p.S556S|MCM10_uc001imc.2_Silent_p.S556S	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	557					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						AGTCCATCTCGGCCTCAGCAC	0.512													A	13234491	G	A	13234491	2	1	132	1	0	0	0	0	0	0	0	1	9385	1103	39	1		1	MCM10	10	13234491	Silent	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08		13234491	122300256	56	78430											
VIM	7431	broad.mit.edu	37	chr10	17276765	17276765	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaggagtccactgagtAccggagacaggtgcagtccc	13	11	0	2			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr10:17276765A>G	uc001iou.2	+	6	1369	c.956A>G	c.(955-957)TAC>TGC	p.Y319C	VIM_uc001iov.1_Missense_Mutation_p.Y319C|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.Y319C|VIM_uc001ioy.1_Missense_Mutation_p.Y319C|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Intron|VIM_uc001ipc.1_Missense_Mutation_p.Y319C	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	319	Rod.|Coil 2.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TCCACTGAGTACCGGAGACAG	0.517													G	17276765	A	G	17276765	3	3	132	1	0	0	0	0	1	0	0	0	17163	391	14	3	974	3	VIM	10	17276765	Missense_Mutation	SNP	A	TCGA-BR-A4QM-01A-12D-A25D-08	4042274	17276765	118257982	57	78431											
CACNB2	783	broad.mit.edu	37	chr10	18789768	18789768	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaatgactggtggatagggCgattggtaaaagaaggctgt	15	4	0	2			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr10:18789768C>T	uc001ipr.2	+	5	544	c.484C>T	c.(484-486)CGA>TGA	p.R162*	CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Nonsense_Mutation_p.R162*|CACNB2_uc001ipt.2_Nonsense_Mutation_p.R162*|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Nonsense_Mutation_p.R134*|CACNB2_uc001ipv.2_Nonsense_Mutation_p.R134*|CACNB2_uc009xka.1_Nonsense_Mutation_p.R134*|CACNB2_uc001ipw.2_Nonsense_Mutation_p.R107*|CACNB2_uc001ipx.2_Nonsense_Mutation_p.R107*|CACNB2_uc009xkb.1_Nonsense_Mutation_p.R108*|CACNB2_uc010qcm.1_Nonsense_Mutation_p.R108*|CACNB2_uc001ipz.2_Nonsense_Mutation_p.R108*|CACNB2_uc001ipy.2_Nonsense_Mutation_p.R108*|CACNB2_uc010qcn.1_Nonsense_Mutation_p.R114*|CACNB2_uc010qco.1_Nonsense_Mutation_p.R114*|CACNB2_uc001iqa.2_Nonsense_Mutation_p.R114*	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	162	SH3.				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GTGGATAGGGCGATTGGTAAA	0.393													T	18789768	C	T	18789768	4	4	132	1	0	0	0	0	0	1	0	0	2553	760	27	1	722	1	CACNB2	10	18789768	Nonsense_Mutation	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	1513003	18789768	116744979	58	78432											
MYST4	23522	broad.mit.edu	37	chr10	76789439	76789439	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgtcaacagcccaagtgtCcctgctctggaaaacagcta	8	13	3	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr10:76789439C>T	uc001jwn.1	+	18	5350	c.4857C>T	c.(4855-4857)GTC>GTT	p.V1619V	MYST4_uc001jwo.1_Silent_p.V1327V|MYST4_uc001jwp.1_Silent_p.V1436V	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1619	Ser-rich.|Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					GCCCAAGTGTCCCTGCTCTGG	0.552			T	CREBBP	AML								T	76789439	C	T	76789439	2	4	132	1	0	0	0	0	0	0	0	1	10105	842	30	4		4	MYST4	10	76789439	Silent	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	57999671	76789439	58745308	59	78433											
ZMIZ1	57178	broad.mit.edu	37	chr10	81052021	81052021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgcagcagcggcagtgGcagcagcagcagccacagct	14	15	0	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr10:81052021G>A	uc001kaf.2	+	11	1437	c.865G>A	c.(865-867)GCA>ACA	p.A289T	ZMIZ1_uc001kag.2_Missense_Mutation_p.A165T|ZMIZ1_uc001kah.1_Missense_Mutation_p.A165T	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	289	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			agcggcagtggcagcagcagc	0.498													A	81052021	G	A	81052021	3	1	132	1	0	0	0	0	1	0	0	0	17693	1203	42	2	891	2	ZMIZ1	10	81052021	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	4262582	81052021	54482726	60	78434											
RRP12	23223	broad.mit.edu	37	chr10	99126349	99126349	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcattgtcctcctcgTcctctgagtcagctaaaatc	5	16	3	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr10:99126349T>C	uc001knf.2	-	28	3384	c.3245A>G	c.(3244-3246)GAC>GGC	p.D1082G	RRP12_uc001kne.2_Missense_Mutation_p.D97G|RRP12_uc009xvl.2_Missense_Mutation_p.D199G|RRP12_uc009xvm.2_Missense_Mutation_p.D800G|RRP12_uc010qou.1_Missense_Mutation_p.D1021G|RRP12_uc009xvn.2_Missense_Mutation_p.D982G	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	1082	Glu-rich.					integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GTCCTCCTCGTCCTCTGAGTC	0.607													C	99126349	T	C	99126349	3	2	132	1	0	0	0	0	1	0	0	0	13686	1667	58	3	676	3	RRP12	10	99126349	Missense_Mutation	SNP	T	TCGA-BR-A4QM-01A-12D-A25D-08	18074328	99126349	36408398	61	78435											
SEC23IP	11196	broad.mit.edu	37	chr10	121658153	121658153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccttttacaactggatcCcaagatgtctcgaatgcatt	6	12	1	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr10:121658153C>T	uc001leu.1	+	2	450	c.378C>T	c.(376-378)TCC>TCT	p.S126S	SEC23IP_uc010qtc.1_Intron	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	126	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CAACTGGATCCCAAGATGTCT	0.473													T	121658153	C	T	121658153	2	4	132	1	0	0	0	0	0	0	0	1	13993	610	22	4		4	SEC23IP	10	121658153	Silent	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	22531804	121658153	13876594	62	78436											
MUC5B	727897	broad.mit.edu	37	chr11	1263878	1263878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgcgtccactggatccaCggccaccccgacctccaccc	8	21	0	0	rs142667139	by1000genomes	TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr11:1263878C>T	uc009ycr.1	+	47	7973	c.7847C>T	c.(7846-7848)ACG>ATG	p.T2616M	MUC5B_uc001ltb.2_Missense_Mutation_p.T1926M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1923	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTGGATCCACGGCCACCCCG	0.652													T	1263878	C	T	1263878	3	4	132	1	0	0	0	0	1	0	0	0	9979	536	19	1	5899	1	MUC5B	11	1263878	Missense_Mutation	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08		1263878	133742638	63	78437											
MRGPRE	116534	broad.mit.edu	37	chr11	3249928	3249928	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccagcagcccaccgaggccGagcccctcggtgagggacag	14	17	0	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr11:3249928G>A	uc001lxq.3	-	2	409	c.99C>T	c.(97-99)CTC>CTT	p.L33L		NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	33	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCGAGGCCGAGCCCCTCGG	0.647													A	3249928	G	A	3249928	2	1	132	1	0	0	0	0	0	0	0	1	9764	1045	37	1		1	MRGPRE	11	3249928	Silent	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	1986050	3249928	131756588	64	78438											
UBQLN3	50613	broad.mit.edu	37	chr11	5528945	5528945	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccagctgcacctgaaagTgagcctcaggctgcagctgc	12	14	1	2			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr11:5528945T>G	uc001may.1	-	2	1930	c.1844A>C	c.(1843-1845)CAC>CCC	p.H615P	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	615	UBA.									ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCTGAAAGTGAGCCTCAGG	0.557													G	5528945	T	G	5528945	3	3	132	1	0	0	0	0	1	0	0	0	16895	1696	59	5	127	5	UBQLN3	11	5528945	Missense_Mutation	SNP	T	TCGA-BR-A4QM-01A-12D-A25D-08	2279017	5528945	129477571	65	78439											
KCNA4	3739	broad.mit.edu	37	chr11	30032974	30032974	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggtcagtgcccagtgTgatgaagtaaggcaaaatgg	15	7	1	2			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr11:30032974T>C	uc001msk.2	-	2	2404	c.1252A>G	c.(1252-1254)ACA>GCA	p.T418A		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	418	Helical; Name=Segment S3; (Potential).					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GTGCCCAGTGTGATGAAGTAA	0.507													C	30032974	T	C	30032974	3	2	132	1	0	0	0	0	1	0	0	0	8005	1696	59	3	713	3	KCNA4	11	30032974	Missense_Mutation	SNP	T	TCGA-BR-A4QM-01A-12D-A25D-08	24504029	30032974	104973542	66	78440											
ACCSL	390110	broad.mit.edu	37	chr11	44069816	44069816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgagtcgcttaatatgccGgatgatcaacctcctacagt	8	11	2	2			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr11:44069816G>A	uc001mxw.1	+	1	286	c.230G>A	c.(229-231)CGG>CAG	p.R77Q	ACCSL_uc009ykr.2_5'UTR	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	77							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						TTAATATGCCGGATGATCAAC	0.577													A	44069816	G	A	44069816	3	1	132	1	0	0	0	0	1	0	0	0	134	1116	39	1	232	1	ACCSL	11	44069816	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	14036842	44069816	90936700	67	78441											
OR4A47	403253	broad.mit.edu	37	chr11	48510618	48510618	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgggaataattccatatccTtccaatcttgcatggcccag	7	11	1	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr11:48510618T>G	uc010rhx.1	+	1	274	c.274T>G	c.(274-276)TTC>GTC	p.F92V		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	92	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TTCCATATCCTTCCAATCTTG	0.428													G	48510618	T	G	48510618	3	3	132	1	0	0	0	0	1	0	0	0	11042	1609	56	5	276	5	OR4A47	11	48510618	Missense_Mutation	SNP	T	TCGA-BR-A4QM-01A-12D-A25D-08	4440802	48510618	86495898	68	78442											
VSIG2	23584	broad.mit.edu	37	chr11	124620670	124620670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatctggtgggttgttgaCttggcagaggtaggttccag	16	5	1	2			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr11:124620670C>T	uc001qas.2	-	3	443	c.367G>A	c.(367-369)GTC>ATC	p.V123I	VSIG2_uc001qat.2_Missense_Mutation_p.V123I	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	123	Extracellular (Potential).|Ig-like V-type.					integral to plasma membrane|membrane fraction				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GGGTTGTTGACTTGGCAGAGG	0.547													T	124620670	C	T	124620670	3	4	132	1	0	0	0	0	1	0	0	0	17221	565	20	4	636	4	VSIG2	11	124620670	Missense_Mutation	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	76110052	124620670	10385846	69	78443											
CLEC2D	29121	broad.mit.edu	37	chr12	9840550	9840550	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatgtcttcaagctgcatgCccagaaagctggattggttt	11	8	2	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr12:9840550C>T	uc001qwg.1	+	3	247	c.225C>T	c.(223-225)TGC>TGT	p.C75C	CLEC2D_uc001qwf.1_Silent_p.C75C|CLEC2D_uc009zgs.1_RNA|CLEC2D_uc001qwh.1_RNA|CLEC2D_uc009zgt.1_RNA|CLEC2D_uc009zgu.1_Silent_p.C33C	NM_013269	NP_037401	Q9UHP7	CLC2D_HUMAN	osteoclast inhibitory lectin isoform 1	75	Extracellular (Potential).				cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity				0						AAGCTGCATGCCCAGAAAGCT	0.328													T	9840550	C	T	9840550	2	4	132	1	0	0	0	0	0	0	0	1	3508	747	26	2		2	CLEC2D	12	9840550	Silent	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08		9840550	124011345	70	78444											
C12orf72	254013	broad.mit.edu	37	chr12	31820774	31820774	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttctggacctatagaactcgAgtactgattggtgaccctgg	11	9	1	3			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr12:31820774A>T	uc009zjr.2	+	4	848	c.639A>T	c.(637-639)CGA>CGT	p.R213R	C12orf72_uc001rkl.2_Silent_p.R213R|C12orf72_uc001rkm.2_Silent_p.R213R	NM_001135864	NP_001129336	Q8IXQ9	MET20_HUMAN	hypothetical protein LOC254013	213						cytoplasm	protein methyltransferase activity				0						ATAGAACTCGAGTACTGATTG	0.473													T	31820774	A	T	31820774	2	4	132	1	0	0	0	0	0	0	0	1	1713	291	11	5		5	C12orf72	12	31820774	Silent	SNP	A	TCGA-BR-A4QM-01A-12D-A25D-08	21980224	31820774	102031121	71	78445											
COL2A1	1280	broad.mit.edu	37	chr12	48371127	48371127	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcctctgtctccttgcttGccagttggaccagcggggcc	11	15	3	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr12:48371127G>T	uc001rqu.2	-	46	3430	c.3249C>A	c.(3247-3249)GGC>GGA	p.G1083G	COL2A1_uc001rqt.2_5'Flank|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.G1014G	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1083	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTCCTTGCTTGCCAGTTGGAC	0.632													T	48371127	G	T	48371127	2	4	132	1	0	0	0	0	0	0	0	1	3687	1306	46	5		5	COL2A1	12	48371127	Silent	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	16550353	48371127	85480768	72	78446											
NCKAP5L	57701	broad.mit.edu	37	chr12	50185782	50185782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaaggtgggccctggggcGtaggggacgggcggctgggc	23	9	0	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr12:50185782G>A	uc009zlk.2	-	13	4047	c.3845C>T	c.(3844-3846)ACG>ATG	p.T1282M	NCKAP5L_uc001rvc.3_Missense_Mutation_p.T486M|NCKAP5L_uc001rvb.2_3'UTR	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1278	Pro-rich.									central_nervous_system(1)	1						GCCCTGGGGCGTAGGGGACGG	0.721													A	50185782	G	A	50185782	3	1	132	1	0	0	0	0	1	0	0	0	10224	1145	40	1	163	1	NCKAP5L	12	50185782	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	1814655	50185782	83666113	73	78447											
ERBB3	2065	broad.mit.edu	37	chr12	56482341	56482341	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccctagataactttgtggtgGatcaaacatcctgtgtcagg	10	9	2	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr12:56482341G>T	uc001sjh.2	+	8	1082	c.889G>T	c.(889-891)GAT>TAT	p.D297Y	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.D238Y|ERBB3_uc001sji.2_5'UTR	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	297	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTTTGTGGTGGATCAAACATC	0.512													T	56482341	G	T	56482341	3	4	132	1	0	0	0	0	1	0	0	0	5208	1174	41	5	1050	5	ERBB3	12	56482341	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	6296559	56482341	77369554	74	78448											
C12orf12	196477	broad.mit.edu	37	chr12	91348279	91348279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacccccagttagagcacaCgggtggttggaaccaaaagc	12	12	0	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr12:91348279C>T	uc001tbj.2	-	1	675	c.241G>A	c.(241-243)GTG>ATG	p.V81M		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	81										central_nervous_system(1)|pancreas(1)	2						TTAGAGCACACGGGTGGTTGG	0.622													T	91348279	C	T	91348279	3	4	132	1	0	0	0	0	1	0	0	0	1676	536	19	1	983	1	C12orf12	12	91348279	Missense_Mutation	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	34865938	91348279	42503616	75	78449											
BTBD11	121551	broad.mit.edu	37	chr12	107712922	107712922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacaacagctttgacactGtcaacactgccctggtggaa	10	12	1	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr12:107712922G>A	uc001tmk.1	+	1	726	c.205G>A	c.(205-207)GTC>ATC	p.V69I	BTBD11_uc009zut.1_Missense_Mutation_p.V69I|BTBD11_uc001tmj.2_Missense_Mutation_p.V69I	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	69						integral to membrane	DNA binding			skin(2)|ovary(1)	3						CTTTGACACTGTCAACACTGC	0.657													A	107712922	G	A	107712922	3	1	132	1	0	0	0	0	1	0	0	0	1539	1377	48	4	207	4	BTBD11	12	107712922	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	16364643	107712922	26138973	76	78450											
WSCD2	9671	broad.mit.edu	37	chr12	108589694	108589694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggcactctacctgactGctgggagccttgtcttcctt	9	14	2	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr12:108589694G>A	uc001tms.2	+	2	829	c.85G>A	c.(85-87)GCT>ACT	p.A29T	WSCD2_uc001tmt.2_Missense_Mutation_p.A29T	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	29	Helical; (Potential).					integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						CTACCTGACTGCTGGGAGCCT	0.607													A	108589694	G	A	108589694	3	1	132	1	0	0	0	0	1	0	0	0	17404	1319	46	2	87	2	WSCD2	12	108589694	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	876772	108589694	25262201	77	78451											
FICD	11153	broad.mit.edu	37	chr12	108912824	108912824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaacacaggtcctggtcGgacaccacatccctccccat	8	17	0	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr12:108912824G>A	uc001tmx.1	+	3	1095	c.949G>A	c.(949-951)GGA>AGA	p.G317R		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Huntingtin interacting protein E	317	Fido.				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity				0						GGTCCTGGTCGGACACCACAT	0.607													A	108912824	G	A	108912824	3	1	132	1	0	0	0	0	1	0	0	0	5887	1117	39	1	955	1	FICD	12	108912824	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	323130	108912824	24939071	78	78452											
WSB2	55884	broad.mit.edu	37	chr12	118490136	118490136	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgctcctccaacggccagGggatcagtttgacgatgcag	12	12	1	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr12:118490136G>T	uc001twr.2	-	2	259	c.161C>A	c.(160-162)CCC>CAC	p.P54H	WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_5'UTR|WSB2_uc009zws.1_Missense_Mutation_p.P54H	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	54					intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAACGGCCAGGGGATCAGTTT	0.532													T	118490136	G	T	118490136	3	4	132	1	0	0	0	0	1	0	0	0	17402	1232	43	5	1085	5	WSB2	12	118490136	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	9577312	118490136	15361759	79	78453											
LPAR6	10161	broad.mit.edu	37	chr13	48986434	48986434	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cggactttgaggacgcagatGaaaatgtatatggcaacaca	11	7	0	3			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr13:48986434G>C	uc010acu.2	-	1	1220	c.126C>G	c.(124-126)TTC>TTG	p.F42L	RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Missense_Mutation_p.F42L|LPAR6_uc001vcf.2_Missense_Mutation_p.F42L	NM_001162498	NP_001155970	P43657	LPAR6_HUMAN	G-protein coupled purinergic receptor P2Y5	42	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.?(4)		ovary(4)	4						GGACGCAGATGAAAATGTATA	0.363													C	48986434	G	C	48986434	3	2	132	1	0	0	0	0	1	0	0	0	8909	1281	45	5	912	5	LPAR6	13	48986434	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08		48986434	66183444	80	78454											
GPC5	2262	broad.mit.edu	37	chr13	92345752	92345752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattccccaaagagtaatgGgacagatggggaggtccctg	13	8	0	2			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr13:92345752G>A	uc010tif.1	+	3	1003	c.637G>A	c.(637-639)GGA>AGA	p.G213R		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	213						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AAGAGTAATGGGACAGATGGG	0.517													A	92345752	G	A	92345752	3	1	132	1	0	0	0	0	1	0	0	0	6601	1233	43	4	647	4	GPC5	13	92345752	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	43359318	92345752	22824126	81	78455											
PRKD1	5587	broad.mit.edu	37	chr14	30135292	30135292	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaataacttaccttcacattTaagaccttgacgtaccagcc	4	12	1	2			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr14:30135292T>G	uc001wqh.2	-	3	707	c.526A>C	c.(526-528)AAA>CAA	p.K176Q		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	176	Phorbol-ester/DAG-type 1.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCTTCACATTTAAGACCTTGA	0.323													G	30135292	T	G	30135292	3	3	132	1	0	0	0	0	1	0	0	0	12518	1763	61	5	2276	5	PRKD1	14	30135292	Missense_Mutation	SNP	T	TCGA-BR-A4QM-01A-12D-A25D-08		30135292	77214248	82	78456											
NIPA2	81614	broad.mit.edu	37	chr15	23006451	23006454	+	Frame_Shift_Del	DEL	CACT	CACT	-													cacaatgattgtaaagaagcCactcaaagtaccaatgacat							TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr15:23006450_23006453CCACT>C	uc001yvb.3	-	9	1708_1711	c.851_854AGTGG>G	c.(850-855)agtggcfs	p.S284fs	NIPA2_uc001yux.3_Frame_Shift_Del_p.S284fs|NIPA2_uc001yuy.3_Frame_Shift_Del_p.S284fs|NIPA2_uc001yuz.3_Frame_Shift_Del_p.S284fs|NIPA2_uc010ayb.3_Frame_Shift_Del_p.S265fs|NIPA2_uc001yva.3_Frame_Shift_Del_p.S265fs	NM_001184889	NP_112184	Q8N8Q9	NIPA2_HUMAN	Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 2 (NIPA2), transcript variant 5, mRNA.	284						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		TGTAAAGAAGCCACTCAAAGTACC	0.368													-	23006454	CACT	-	23006451	7	5	132	1	0	1	0	1	0	0	0	0	10423	594	21	0	233	0	NIPA2	15	23006451	Frame_Shift_Del	DEL	CACT	TCGA-BR-A4QM-01A-12D-A25D-08		23006451	79524941	83	78457											
PLCB2	5330	broad.mit.edu	37	chr15	40583514	40583514	+	Frame_Shift_Del	DEL	C	C	-													cgagcttgcaggccccgacgCcccccacgcccggtggcccg							TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr15:40583514delC	uc001zld.2	-	26	3123	c.2822delG	c.(2821-2823)GGCfs	p.G941fs	PLCB2_uc001zlc.2_5'UTR|PLCB2_uc010bbo.2_Frame_Shift_Del_p.G937fs|PLCB2_uc010ucm.1_Frame_Shift_Del_p.G926fs	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	941					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGCCCCGACGCCCCCCACGCC	0.428													-	40583514	C	-	40583514	7	5	132	1	0	1	0	1	0	0	0	0	12028	739	26	0	763	0	PLCB2	15	40583514	Frame_Shift_Del	DEL	C	TCGA-BR-A4QM-01A-12D-A25D-08	17577063	40583514	61947878	84	78458											
UNC13C	440279	broad.mit.edu	37	chr15	54586259	54586259	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatggatgtctggtacaacTtaggtgatttttttttttat	8	3	1	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr15:54586259T>C	uc002ack.2	+	9	3985	c.3985T>C	c.(3985-3987)TTA>CTA	p.L1329L	UNC13C_uc002acl.2_Silent_p.L159L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1329					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGGTACAACTTAGGTGATTT	0.348													C	54586259	T	C	54586259	2	2	132	1	0	0	0	0	0	0	0	1	16983	1606	56	3		3	UNC13C	15	54586259	Silent	SNP	T	TCGA-BR-A4QM-01A-12D-A25D-08	14002745	54586259	47945133	85	78459											
HAPLN3	145864	broad.mit.edu	37	chr15	89424847	89424847	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcacacgccgcggggagacCagggccggctcgtagcggta	17	14	0	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr15:89424847C>A	uc002bnc.2	-	3	362	c.234G>T	c.(232-234)CTG>CTT	p.L78L	HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Silent_p.L140L	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	78	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	Lung NSC(78;0.0392)|all_lung(78;0.077)					GCGGGGAGACCAGGGCCGGCT	0.657													A	89424847	C	A	89424847	2	1	132	1	0	0	0	0	0	0	0	1	6956	581	21	5		5	HAPLN3	15	89424847	Silent	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	34838588	89424847	13106545	86	78460											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1817631	1817631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgtggatcggcgatggcGtatgggtgtccatccgcctg	17	10	0	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr16:1817631G>A	uc002cmk.2	+	27	3421	c.3301G>A	c.(3301-3303)GTA>ATA	p.V1101I	MAPK8IP3_uc002cml.2_Missense_Mutation_p.V1095I|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.V1102I	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	1101					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						CGGCGATGGCGTATGGGTGTC	0.622													A	1817631	G	A	1817631	3	1	132	1	0	0	0	0	1	0	0	0	9286	1145	40	1	3423	1	MAPK8IP3	16	1817631	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08		1817631	88537122	87	78461											
GLYR1	84656	broad.mit.edu	37	chr16	4882797	4882812	+	Frame_Shift_Del	DEL	CTGAGGAACTCTTCGA	CTGAGGAACTCTTCGA	-													ggtctttccctttggctctcCtgaggaactcttcgacagca							TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr16:4882796_4882811CCTGAGGAACTCTTCGA>C	uc002cxx.4	-	3	295_310	c.258_273TCGAAGAGTTCCTCAGG>G	c.(256-273)gtcgaagagttcctcaggfs	p.V86fs	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Frame_Shift_Del_p.V17fs|GLYR1_uc002cya.2_Frame_Shift_Del_p.V86fs|GLYR1_uc010uxv.1_Frame_Shift_Del_p.V86fs	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	86					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CTTTGGCTCTCCTGAGGAACTCTTCGACAGCATCTA	0.431													-	4882812	CTGAGGAACTCTTCGA	-	4882797	7	5	132	1	0	1	0	1	0	0	0	0	6483	681	24	0	1441	0	GLYR1	16	4882797	Frame_Shift_Del	DEL	CTGAGGAACTCTTCGA	TCGA-BR-A4QM-01A-12D-A25D-08	3065166	4882797	85471956	88	78462											
ZNF423	23090	broad.mit.edu	37	chr16	49671764	49671764	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgctggggcttgtccgcGtggatggtcttcaggtggat	16	9	3	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr16:49671764G>A	uc002efs.2	-	5	1597	c.1299C>T	c.(1297-1299)CAC>CAT	p.H433H	ZNF423_uc010vgn.1_Silent_p.H316H	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	433	C2H2-type 9; degenerate.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GCTTGTCCGCGTGGATGGTCT	0.587													A	49671764	G	A	49671764	2	1	132	1	0	0	0	0	0	0	0	1	17895	1136	40	1		1	ZNF423	16	49671764	Silent	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	44788967	49671764	40682989	89	78463											
CDH1	999	broad.mit.edu	37	chr16	68849586	68849586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaagagagtggaagtgtccGaggactttggcgtgggccag	17	6	0	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr16:68849586G>A	uc002ewg.1	+	10	1613	c.1489G>A	c.(1489-1491)GAG>AAG	p.E497K	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.E436K	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	497	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GGAAGTGTCCGAGGACTTTGG	0.512			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				A	68849586	G	A	68849586	3	1	132	1	0	0	0	0	1	0	0	0	3095	1059	37	1	1527	1	CDH1	16	68849586	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	19177822	68849586	21505167	90	78464											
HYDIN	54768	broad.mit.edu	37	chr16	70989374	70989374	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttgttgctgttggccacagCttccagcacaatggagtcga	12	10	0	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr16:70989374C>G	uc002ezr.2	-	40	6345	c.6217G>C	c.(6217-6219)GCT>CCT	p.A2073P		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2074										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TTGGCCACAGCTTCCAGCACA	0.562													G	70989374	C	G	70989374	3	3	132	1	0	0	0	0	1	0	0	0	7467	797	28	5	9333	5	HYDIN	16	70989374	Missense_Mutation	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	2139788	70989374	19365379	91	78465											
DNAH9	1770	broad.mit.edu	37	chr17	11666890	11666890	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgagcattattttgtgtttGctgccatctgggctttcggc	11	8	1	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr17:11666890G>T	uc002gne.2	+	36	7197	c.7129G>T	c.(7129-7131)GCT>TCT	p.A2377S	DNAH9_uc010coo.2_Missense_Mutation_p.A1671S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2377					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTTGTGTTTGCTGCCATCTG	0.478													T	11666890	G	T	11666890	3	4	132	1	0	0	0	0	1	0	0	0	4608	1319	46	5	7271	5	DNAH9	17	11666890	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08		11666890	69528320	92	78466											
CCT6B	10693	broad.mit.edu	37	chr17	33267619	33267619	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccatgttttgcaagagaatCtaaggaaaatggatcaattc	8	6	2	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr17:33267619C>T	uc002hig.2	-	8	1001	c.907G>A	c.(907-909)GAT>AAT	p.D303N	CCT6B_uc010ctg.2_Missense_Mutation_p.D266N|CCT6B_uc010wcc.1_Missense_Mutation_p.D258N	NM_006584	NP_006575	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B	303					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			pancreas(1)	1		Ovarian(249;0.17)				GCAAGAGAATCTAAGGAAAAT	0.229													T	33267619	C	T	33267619	3	4	132	1	0	0	0	0	1	0	0	0	2958	913	32	4	713	4	CCT6B	17	33267619	Missense_Mutation	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	21600729	33267619	47927591	93	78467											
RNF43	54894	broad.mit.edu	37	chr17	56448391	56448391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgcacaggtacagcgggtGggactgcagagagagacaga	16	7	0	3			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr17:56448391G>A	uc002iwf.2	-	2	2212	c.256C>T	c.(256-258)CAC>TAC	p.H86Y	RNF43_uc010wnv.1_Intron|RNF43_uc002iwh.3_Missense_Mutation_p.H86Y|RNF43_uc002iwg.3_Missense_Mutation_p.H86Y|RNF43_uc010dcw.2_5'UTR	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	86	Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TACAGCGGGTGGGACTGCAGA	0.572													A	56448391	G	A	56448391	3	1	132	1	0	0	0	0	1	0	0	0	13495	1348	47	4	2127	4	RNF43	17	56448391	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	23180772	56448391	24746819	94	78468											
RNF43	54894	broad.mit.edu	37	chr17	56492797	56492798	+	Frame_Shift_Ins	INS	-	-	A													ttcaaggggatcactctgatINSaatagctttctgttctgctg							TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr17:56492797_56492798insA	uc002iwf.2	-	1	2097_2098	c.141_142insT	c.(139-144)ATTATCfs	p.I47fs	RNF43_uc010wnv.1_Frame_Shift_Ins_p.I47fs|RNF43_uc002iwh.3_Frame_Shift_Ins_p.I47fs|RNF43_uc002iwg.3_Frame_Shift_Ins_p.I47fs|RNF43_uc010dcw.2_Intron	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	47_48	Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATCACTCTGATAATAGCTTTCT	0.505													A	56492798	-	A	56492797	7	5	132	1	0	1	1	0	0	0	0	0	13495	1406	49	0	2245	0	RNF43	17	56492797	Frame_Shift_Ins	INS	-	TCGA-BR-A4QM-01A-12D-A25D-08	44406	56492797	24702413	95	78469	394	2									
RNF43	54894	broad.mit.edu	37	chr17	56492798	56492799	+	Frame_Shift_Ins	INS	-	-	A													tcaaggggatcactctgataINSatagctttctgttctgctga							TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr17:56492797_56492798T>TA	uc002iwf.3	-	0	2097_2098	c.141_142A>TA	c.(139-144)attatcfs	p.I47fs	RNF43_uc010wnv.2_Frame_Shift_Ins_p.I47fs|RNF43_uc002iwh.4_Frame_Shift_Ins_p.I47fs|RNF43_uc002iwg.4_Frame_Shift_Ins_p.I47fs|RNF43_uc010dcw.3_Intron	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	47			I -> V (in dbSNP:rs3744093).			endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.I48T(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATCACTCTGATAATAGCTTTCT	0.505													A	56492799	-	A	56492798	7	5	132	1	0	1	1	0	0	0	0	0	13495	358	13	0	2246	0	RNF43	17	56492798	Frame_Shift_Ins	INS	-	TCGA-BR-A4QM-01A-12D-A25D-08	1	56492798	24702412	96	78470	394	2									
SLC39A11	201266	broad.mit.edu	37	chr17	70732808	70732808	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggcactctcaaaggtagCagatgccgtcttttctatag	9	11	3	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr17:70732808C>A	uc002jjb.2	-	7	788	c.673G>T	c.(673-675)GCT>TCT	p.A225S	SLC39A11_uc002jja.2_Missense_Mutation_p.A218S	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11 isoform 1	225					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						TCAAAGGTAGCAGATGCCGTC	0.522													A	70732808	C	A	70732808	3	1	132	1	0	0	0	0	1	0	0	0	14614	710	25	5	371	5	SLC39A11	17	70732808	Missense_Mutation	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	14240010	70732808	10462402	97	78471											
LAMA1	284217	broad.mit.edu	37	chr18	7117677	7117677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctctctgccggcactgcgCggcgacacacagcagcaaga	11	16	1	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr18:7117677C>T	uc002knm.2	-	1	137	c.43G>A	c.(43-45)GCG>ACG	p.A15T	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	15					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)	CGGCACTGCGCGGCGACACAC	0.602													T	7117677	C	T	7117677	3	4	132	1	0	0	0	0	1	0	0	0	8605	768	27	1	9436	1	LAMA1	18	7117677	Missense_Mutation	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08		7117677	70959571	98	78472											
MIB1	57534	broad.mit.edu	37	chr18	19427012	19427012	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcattcgaaataagaagggTcaatcgccacttgatctctg	9	9	2	2			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr18:19427012T>A	uc002ktq.2	+	16	2319	c.2319T>A	c.(2317-2319)GGT>GGA	p.G773G	MIB1_uc002ktp.2_Silent_p.G412G	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	773					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)			ATAAGAAGGGTCAATCGCCAC	0.448													A	19427012	T	A	19427012	2	1	132	1	0	0	0	0	0	0	0	1	9566	1654	58	5		5	MIB1	18	19427012	Silent	SNP	T	TCGA-BR-A4QM-01A-12D-A25D-08	12309335	19427012	58650236	99	78473											
DCC	1630	broad.mit.edu	37	chr18	50912418	50912418	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgttttttctccagagtcaAgttcccattatgtaatctcc	5	11	3	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr18:50912418A>C	uc002lfe.1	+	16	2952	c.2365A>C	c.(2365-2367)AGT>CGT	p.S789R	DCC_uc010xdr.1_Missense_Mutation_p.S637R|DCC_uc010dpf.1_Missense_Mutation_p.S444R	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	789	Extracellular (Potential).|Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCCAGAGTCAAGTTCCCATTA	0.343													C	50912418	A	C	50912418	3	2	132	1	0	0	0	0	1	0	0	0	4282	72	3	5	2427	5	DCC	18	50912418	Missense_Mutation	SNP	A	TCGA-BR-A4QM-01A-12D-A25D-08	31485406	50912418	27164830	100	78474											
THEG	51298	broad.mit.edu	37	chr19	375955	375955	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggttcccgagtgaccttcGcctgctgtcccccatacacc	8	18	0	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr19:375955G>A	uc002lol.2	-	1	55	c.16C>T	c.(16-18)CGA>TGA	p.R6*	THEG_uc002lom.2_Nonsense_Mutation_p.R6*	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Theg homolog isoform 1	6					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			ovary(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGACCTTCGCCTGCTGTCC	0.682													A	375955	G	A	375955	4	1	132	1	0	0	0	0	0	1	0	0	15854	1095	38	1	1155	1	THEG	19	375955	Nonsense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08		375955	58753028	101	78475											
MUC16	94025	broad.mit.edu	37	chr19	9070919	9070919	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagcacctgtgggcacataAgaaaaggcagtatttgtctc	10	8	1	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr19:9070919A>G	uc002mkp.2	-	3	16731	c.16527T>C	c.(16525-16527)TCT>TCC	p.S5509S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5511	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGGGCACATAAGAAAAGGCAG	0.498													G	9070919	A	G	9070919	2	3	132	1	0	0	0	0	0	0	0	1	9973	59	3	3		3	MUC16	19	9070919	Silent	SNP	A	TCGA-BR-A4QM-01A-12D-A25D-08	8694964	9070919	50058064	102	78476											
NFIX	4784	broad.mit.edu	37	chr19	13192536	13192536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccctgcacttcccctccaCgtccatcatccagcagtcga	6	19	1	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr19:13192536C>T	uc010xmx.1	+	8	1198	c.1145C>T	c.(1144-1146)ACG>ATG	p.T382M	NFIX_uc002mwd.2_Missense_Mutation_p.T374M|NFIX_uc002mwe.2_Missense_Mutation_p.T366M|NFIX_uc002mwf.2_Missense_Mutation_p.T336M|NFIX_uc002mwg.1_Missense_Mutation_p.T373M			Q14938	NFIX_HUMAN	RecName: Full=Nuclear factor 1;	374					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			TTCCCCTCCACGTCCATCATC	0.627													T	13192536	C	T	13192536	3	4	132	1	0	0	0	0	1	0	0	0	10374	536	19	1	1151	1	NFIX	19	13192536	Missense_Mutation	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	4121617	13192536	45936447	103	78477											
ATP13A1	57130	broad.mit.edu	37	chr19	19756753	19756753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacggtgctgttgaccaggCttggctcaaactccttgtac	11	11	1	2			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr19:19756753C>T	uc002nnh.3	-	24	3318	c.3290G>A	c.(3289-3291)AGC>AAC	p.S1097N	GMIP_uc002nnd.2_5'Flank|GMIP_uc010xrb.1_5'Flank|GMIP_uc010xrc.1_5'Flank|ATP13A1_uc002nne.2_Missense_Mutation_p.S237N|ATP13A1_uc002nnf.3_Missense_Mutation_p.S465N|ATP13A1_uc002nng.2_Missense_Mutation_p.S979N	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	1097	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						GTTGACCAGGCTTGGCTCAAA	0.567													T	19756753	C	T	19756753	3	4	132	1	0	0	0	0	1	0	0	0	1123	797	28	2	336	2	ATP13A1	19	19756753	Missense_Mutation	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	6564217	19756753	39372230	104	78478											
ZNF676	163223	broad.mit.edu	37	chr19	22364350	22364350	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagaatcttctatgccttGctctggccaaaactcttggg	9	10	4	1			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr19:22364350G>A	uc002nqs.1	-	3	487	c.169C>T	c.(169-171)CAA>TAA	p.Q57*		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTATGCCTTGCTCTGGCCAA	0.299													A	22364350	G	A	22364350	4	1	132	1	0	0	0	0	0	1	0	0	18080	1328	46	2	1601	2	ZNF676	19	22364350	Nonsense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	2607597	22364350	36764633	105	78479											
ZNF568	374900	broad.mit.edu	37	chr19	37441098	37441098	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atccttcagccagaagcaaaAtcttattgagcacgagaaaa	7	9	2	3			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr19:37441098A>C	uc002ofc.2	+	7	1558	c.1043A>C	c.(1042-1044)AAT>ACT	p.N348T	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.N272T|ZNF568_uc010efe.2_Missense_Mutation_p.N272T|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	348	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGAAGCAAAATCTTATTGAG	0.388													C	37441098	A	C	37441098	3	2	132	1	0	0	0	0	1	0	0	0	17996	101	4	5	1061	5	ZNF568	19	37441098	Missense_Mutation	SNP	A	TCGA-BR-A4QM-01A-12D-A25D-08	15076748	37441098	21687885	106	78480											
ATP1A3	478	broad.mit.edu	37	chr19	42489213	42489213	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacagccacgccggtgatgaGctggatgaagtgctcaatct	13	10	2	3			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr19:42489213G>T	uc002osg.2	-	8	1004	c.850C>A	c.(850-852)CTC>ATC	p.L284I	ATP1A3_uc010xwf.1_Missense_Mutation_p.L295I|ATP1A3_uc010xwg.1_Missense_Mutation_p.L254I|ATP1A3_uc010xwh.1_Missense_Mutation_p.L297I|ATP1A3_uc002osh.2_Missense_Mutation_p.L284I	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	284	Helical; (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						CCGGTGATGAGCTGGATGAAG	0.597													T	42489213	G	T	42489213	3	4	132	1	0	0	0	0	1	0	0	0	1130	971	34	5	2255	5	ATP1A3	19	42489213	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	5048115	42489213	16639770	107	78481											
RSPH6A	81492	broad.mit.edu	37	chr19	46307639	46307639	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccaccttcctcctcctcGtcgccctcctcctcactaaa	3	22	1	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr19:46307639G>A	uc002pdm.2	-	3	1667	c.1524C>T	c.(1522-1524)GAC>GAT	p.D508D	RSPH6A_uc002pdl.2_Silent_p.D244D	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	508	Glu-rich.					intracellular				ovary(1)|central_nervous_system(1)	2						CCTCCTCCTCGTCGCCCTCCT	0.662													A	46307639	G	A	46307639	2	1	132	1	0	0	0	0	0	0	0	1	13707	1136	40	1		1	RSPH6A	19	46307639	Silent	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	3818426	46307639	12821344	108	78482											
CNOT3	4849	broad.mit.edu	37	chr19	54656241	54656241	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcagaggtgaacataccGctgtcgctgggtgtctgtcc	13	11	2	2			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr19:54656241G>A	uc002qdj.1	+	15	2093	c.1782G>A	c.(1780-1782)CCG>CCA	p.P594P	CNOT3_uc010yel.1_Silent_p.P594P|CNOT3_uc002qdi.2_Silent_p.P507P|CNOT3_uc002qdk.1_Silent_p.P594P|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_Silent_p.P49P	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	594	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGAACATACCGCTGTCGCTGG	0.652													A	54656241	G	A	54656241	2	1	132	1	0	0	0	0	0	0	0	1	3620	1074	38	1		1	CNOT3	19	54656241	Silent	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	8348602	54656241	4472742	109	78483											
SYCP2	10388	broad.mit.edu	37	chr20	58440688	58440688	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagacacttttagccaatgaAgttttcaaaagatgaagcct	7	7	1	4			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr20:58440688A>C	uc002yaz.2	-	42	4537	c.4398T>G	c.(4396-4398)ACT>ACG	p.T1466T		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1466					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TAGCCAATGAAGTTTTCAAAA	0.254													C	58440688	A	C	58440688	2	2	132	1	0	0	0	0	0	0	0	1	15429	59	3	5		5	SYCP2	20	58440688	Silent	SNP	A	TCGA-BR-A4QM-01A-12D-A25D-08		58440688	4584832	110	78484											
BAGE2	85319	broad.mit.edu	37	chr21	11098713	11098713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcttaccactccagccGccatcttactgctccggccg	7	19	2	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr21:11098713G>A	uc002yit.1	-	1	213	c.5C>T	c.(4-6)GCG>GTG	p.A2V	BAGE_uc002yix.2_RNA	NM_182482	NP_872288			B melanoma antigen family, member 2 precursor												0			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		cactccagccgccatcttact	0													A	11098713	G	A	11098713	3	1	132	1	0	0	0	0	1	0	0	0	1292	1087	38	1	340	1	BAGE2	21	11098713	Missense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08		11098713	37031182	111	78485											
SAMSN1	64092	broad.mit.edu	37	chr21	15872912	15872912	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttttgctgttactccttcGgtttgcctttattttcttgg	7	8	1	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr21:15872912G>A	uc002yju.1	-	6	788	c.706C>T	c.(706-708)CGA>TGA	p.R236*	SAMSN1_uc010gky.1_Nonsense_Mutation_p.R68*|SAMSN1_uc002yjv.1_Nonsense_Mutation_p.R304*	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization	236					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			ovary(3)|pancreas(1)	4				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTACTCCTTCGGTTTGCCTTT	0.423													A	15872912	G	A	15872912	4	1	132	1	0	0	0	0	0	1	0	0	13830	1124	39	1	427	1	SAMSN1	21	15872912	Nonsense_Mutation	SNP	G	TCGA-BR-A4QM-01A-12D-A25D-08	4774199	15872912	32256983	112	78486											
KRTAP10-10	353333	broad.mit.edu	37	chr21	46058077	46058077	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagcctctgctctggccagaAgtccagctgctgacagccct	10	16	2	2			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr21:46058077A>T	uc002zfq.2	+	1	805	c.743A>T	c.(742-744)AAG>ATG	p.K248M	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	keratin associated protein 10-10	248						keratin filament					0						TCTGGCCAGAAGTCCAGCTGC	0.667													T	46058077	A	T	46058077	3	4	132	1	0	0	0	0	1	0	0	0	8506	72	3	5	745	5	KRTAP10-10	21	46058077	Missense_Mutation	SNP	A	TCGA-BR-A4QM-01A-12D-A25D-08	30185165	46058077	2071818	113	78487											
COL6A2	1292	broad.mit.edu	37	chr21	47539015	47539015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggcgggcctgggccccgCggacccaaaggcgagccggt	18	14	0	0	rs61735827	byFrequency	TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr21:47539015C>T	uc002zia.1	+	14	1333	c.1251C>T	c.(1249-1251)CGC>CGT	p.R417R	COL6A2_uc002zhy.1_Silent_p.R417R|COL6A2_uc002zhz.1_Silent_p.R417R|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	417	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	p.R417R(1)		central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTGGGCCCCGCGGACCCAAAG	0.662													T	47539015	C	T	47539015	2	4	132	1	0	0	0	0	0	0	0	1	3700	755	27	1		1	COL6A2	21	47539015	Silent	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	1480938	47539015	590880	114	78488											
WDR13	64743	broad.mit.edu	37	chrX	48457987	48457987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcccaggccccctggcagCgtggtgcccacgtcagcagc	15	17	1	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chrX:48457987C>T	uc004dkh.1	+	5	552	c.405C>T	c.(403-405)AGC>AGT	p.S135S	WDR13_uc010nif.1_Silent_p.S13S|WDR13_uc004dki.1_Silent_p.S43S|WDR13_uc004dkj.1_Silent_p.S135S|WDR13_uc004dkk.1_Silent_p.S43S|WDR13_uc004dkl.3_Silent_p.S43S|WDR13_uc011mme.1_Silent_p.S13S	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	135						cytoplasm|nucleus				ovary(2)	2						CCCCTGGCAGCGTGGTGCCCA	0.622													T	48457987	C	T	48457987	2	4	132	1	0	0	0	0	0	0	0	1	17272	767	27	1		1	WDR13	23	48457987	Silent	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08		48457987	106812573	115	78489											
PLXNB3	5365	broad.mit.edu	37	chrX	153037379	153037379	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccatcctgggctccaacCtgggccgggccttcgccgat	11	17	1	0			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chrX:153037379C>T	uc004fii.2	+	15	2752	c.2578C>T	c.(2578-2580)CTG>TTG	p.L860L	PLXNB3_uc011mzb.1_3'UTR|PLXNB3_uc011mzc.1_Silent_p.L542L|PLXNB3_uc010nuk.2_Silent_p.L883L|PLXNB3_uc011mzd.1_Silent_p.L499L|PLXNB3_uc004fij.1_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	860	IPT/TIG 1.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTCCAACCTGGGCCGGGC	0.701													T	153037379	C	T	153037379	2	4	132	1	0	0	0	0	0	0	0	1	12125	680	24	4		4	PLXNB3	23	153037379	Silent	SNP	C	TCGA-BR-A4QM-01A-12D-A25D-08	104579392	153037379	2233181	116	78490											
C1QC	714	broad.mit.edu	37	chr1	22974057	22974057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactttgtctaccacgcgtcGcatacagccaacctgtgcgt	8	14	1	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr1:22974057G>A	uc001bgc.3	+	3	622	c.519G>A	c.(517-519)TCG>TCA	p.S173S	C1QC_uc001bga.3_Silent_p.S173S|C1QC_uc001bgb.2_Silent_p.S173S	NM_172369	NP_758957	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	173	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCACGCGTCGCATACAGCCA	0.582													A	22974057	G	A	22974057	2	1	133	1	0	0	0	0	0	0	0	1	1957	1074	38	1		1	C1QC	1	22974057	Silent	SNP	G	TCGA-CD-5798-01A-11D-1600-08		22974057	226276564	1	78491											
SMAP2	64744	broad.mit.edu	37	chr1	40887656	40887656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccctttcagatgacccaGcagatggctgggatgaactt	10	11	2	4			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr1:40887656G>A	uc001cfj.2	+	10	1238	c.1173G>A	c.(1171-1173)CAG>CAA	p.Q391Q	SMAP2_uc001cfk.2_Silent_p.Q361Q|SMAP2_uc010oji.1_Silent_p.Q308Q|SMAP2_uc010ojj.1_Silent_p.Q207Q	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	391	Interaction with PICALM (By similarity).|Met-rich.				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			AGATGACCCAGCAGATGGCTG	0.517													A	40887656	G	A	40887656	2	1	133	1	0	0	0	0	0	0	0	1	14767	962	34	2		2	SMAP2	1	40887656	Silent	SNP	G	TCGA-CD-5798-01A-11D-1600-08	17913599	40887656	208362965	2	78492											
NOTCH2	4853	broad.mit.edu	37	chr1	120539720	120539720	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacatacaggctgtcacaGtactggcctgtgaagccctg	12	12	1	1	rs150410907		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr1:120539720G>A	uc001eik.2	-	4	907	c.651C>T	c.(649-651)TAC>TAT	p.Y217Y	NOTCH2_uc001eil.2_Silent_p.Y217Y|NOTCH2_uc001eim.3_Silent_p.Y134Y	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	217	Extracellular (Potential).|EGF-like 5; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCTGTCACAGTACTGGCCTG	0.572			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				A	120539720	G	A	120539720	2	1	133	1	0	0	0	0	0	0	0	1	10548	1024	36	4		4	NOTCH2	1	120539720	Silent	SNP	G	TCGA-CD-5798-01A-11D-1600-08	79652064	120539720	128710901	3	78493											
ECM1	1893	broad.mit.edu	37	chr1	150484934	150484934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactcgggatgagtgctttgCccgtcgggctccttacccca	11	14	0	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr1:150484934C>T	uc001eus.2	+	8	1389	c.1190C>T	c.(1189-1191)GCC>GTC	p.A397V	ECM1_uc001eut.2_Missense_Mutation_p.A272V|ECM1_uc001euu.2_Missense_Mutation_p.A426V|ECM1_uc001euv.2_Missense_Mutation_p.A424V|ECM1_uc009wlu.2_Missense_Mutation_p.A157V	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	397	2 X approximate repeats.|2.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GAGTGCTTTGCCCGTCGGGCT	0.567													T	150484934	C	T	150484934	3	4	133	1	0	0	0	0	1	0	0	0	4897	739	26	2	1220	2	ECM1	1	150484934	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08	29945214	150484934	98765687	4	78494											
NCSTN	23385	broad.mit.edu	37	chr1	160326122	160326122	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctatcctcaggcaggacCtaaggtcctacttgggtaag	11	10	2	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr1:160326122C>T	uc001fvx.2	+	14	1748	c.1624C>T	c.(1624-1626)CTA>TTA	p.L542L	NCSTN_uc001fvy.2_Silent_p.L522L|NCSTN_uc010pjf.1_Silent_p.L404L|NCSTN_uc001fvz.2_Silent_p.L322L|NCSTN_uc010pjg.1_Silent_p.L284L	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	542	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGGCAGGACCTAAGGTCCTA	0.428													T	160326122	C	T	160326122	2	4	133	1	0	0	0	0	0	0	0	1	10241	680	24	4		4	NCSTN	1	160326122	Silent	SNP	C	TCGA-CD-5798-01A-11D-1600-08	9841188	160326122	88924499	5	78495											
TADA1	117143	broad.mit.edu	37	chr1	166833124	166833124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttttccaggttttgctgcGgaaccccctggccaaggcaa	12	12	0	0	rs141542819		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr1:166833124G>A	uc001gdw.2	-	4	451	c.267C>T	c.(265-267)TCC>TCT	p.S89S	TADA1_uc001gdv.2_5'Flank|TADA1_uc009wve.2_Silent_p.S89S	NM_053053	NP_444281	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1-like	89					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(1)	1						GTTTTGCTGCGGAACCCCCTG	0.378													A	166833124	G	A	166833124	2	1	133	1	0	0	0	0	0	0	0	1	15506	1103	39	1		1	TADA1	1	166833124	Silent	SNP	G	TCGA-CD-5798-01A-11D-1600-08	6507002	166833124	82417497	6	78496											
NAV1	89796	broad.mit.edu	37	chr1	201618003	201618003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgaaggtcttcaagtcCggcagcgtggacagccgtgt	15	10	2	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr1:201618003C>T	uc001gwu.2	+	1	554	c.207C>T	c.(205-207)TCC>TCT	p.S69S		NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	69					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						TCTTCAAGTCCGGCAGCGTGG	0.448													T	201618003	C	T	201618003	2	4	133	1	0	0	0	0	0	0	0	1	10183	639	23	1		1	NAV1	1	201618003	Silent	SNP	C	TCGA-CD-5798-01A-11D-1600-08	34784879	201618003	47632618	7	78497											
TARBP1	6894	broad.mit.edu	37	chr1	234603278	234603278	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctggtgaaaatggaagaatCtttgtttcatacagctccaa	8	7	3	2			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr1:234603278C>A	uc001hwd.2	-	4	1218	c.1218G>T	c.(1216-1218)AAG>AAT	p.K406N		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	406					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ATGGAAGAATCTTTGTTTCAT	0.373													A	234603278	C	A	234603278	3	1	133	1	0	0	0	0	1	0	0	0	15552	912	32	5	3755	5	TARBP1	1	234603278	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08	32985275	234603278	14647343	8	78498											
PPPDE1	51029	broad.mit.edu	37	chr1	244855285	244855285	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgcttatcatttaatgcAtaaaaactgcaatcattttt	3	7	2	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr1:244855285A>G	uc001iao.2	+	4	578	c.314A>G	c.(313-315)CAT>CGT	p.H105R	PPPDE1_uc001iap.2_Missense_Mutation_p.H72R	NM_016076	NP_057160	Q9BSY9	PPDE1_HUMAN	PPPDE peptidase domain containing 1	105	PPPDE peptidase.									breast(3)	3						CATTTAATGCATAAAAACTGC	0.313													G	244855285	A	G	244855285	3	3	133	1	0	0	0	0	1	0	0	0	12408	217	8	3	328	3	PPPDE1	1	244855285	Missense_Mutation	SNP	A	TCGA-CD-5798-01A-11D-1600-08	10252007	244855285	4395336	9	78499											
OR2L3	391192	broad.mit.edu	37	chr1	248224128	248224128	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatccatgattcttctcatcTtcttggacacccatctccac	3	15	5	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr1:248224128T>C	uc001idx.1	+	1	145	c.145T>C	c.(145-147)TTC>CTC	p.F49L	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	49	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTTCTCATCTTCTTGGACAC	0.413													C	248224128	T	C	248224128	3	2	133	1	0	0	0	0	1	0	0	0	11008	1609	56	3	147	3	OR2L3	1	248224128	Missense_Mutation	SNP	T	TCGA-CD-5798-01A-11D-1600-08	3368843	248224128	1026493	10	78500											
LPIN1	23175	broad.mit.edu	37	chr2	11964841	11964841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactttccctgttcggataCcttcagtaacttcacctttt	5	12	2	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr2:11964841C>T	uc010yjn.1	+	21	2871	c.2597C>T	c.(2596-2598)ACC>ATC	p.T866I	LPIN1_uc010yjm.1_Missense_Mutation_p.T951I|LPIN1_uc002rbt.2_Missense_Mutation_p.T866I|LPIN1_uc010yjo.1_Missense_Mutation_p.T367I	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	866					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGTTCGGATACCTTCAGTAAC	0.478													T	11964841	C	T	11964841	3	4	133	1	0	0	0	0	1	0	0	0	8918	507	18	4	2671	4	LPIN1	2	11964841	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08		11964841	231234532	11	78501											
XDH	7498	broad.mit.edu	37	chr2	31572580	31572580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgtcaacctcactcttccGagcatgatactgagagcttg	8	12	3	2			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr2:31572580G>A	uc002rnv.1	-	26	3020	c.2941C>T	c.(2941-2943)CGG>TGG	p.R981W		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	981					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TCACTCTTCCGAGCATGATAC	0.483													A	31572580	G	A	31572580	3	1	133	1	0	0	0	0	1	0	0	0	17423	1057	37	1	1104	1	XDH	2	31572580	Missense_Mutation	SNP	G	TCGA-CD-5798-01A-11D-1600-08	19607739	31572580	211626793	12	78502											
VIT	5212	broad.mit.edu	37	chr2	37035950	37035950	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaagcctgacatcctcaaCgccatcaagagggtgggcta	11	12	2	2			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr2:37035950C>T	uc002rpl.2	+	15	1946	c.1725C>T	c.(1723-1725)AAC>AAT	p.N575N	VIT_uc002rpm.2_Silent_p.N553N|VIT_uc010ezv.2_Silent_p.N531N|VIT_uc010ezw.2_Silent_p.N532N	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	560	VWFA 2.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				ACATCCTCAACGCCATCAAGA	0.592													T	37035950	C	T	37035950	2	4	133	1	0	0	0	0	0	0	0	1	17168	535	19	1		1	VIT	2	37035950	Silent	SNP	C	TCGA-CD-5798-01A-11D-1600-08	5463370	37035950	206163423	13	78503											
NMS	129521	broad.mit.edu	37	chr2	101099720	101099720	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctttttttaggattcaGtggtgaaagaaagctggatc	10	4	2	2			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr2:101099720G>A	uc002tan.1	+	10	463	c.456G>A	c.(454-456)CAG>CAA	p.Q152Q		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	neuromedin S precursor	152					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				ovary(1)	1						TTAGGATTCAGTGGTGAAAGA	0.348													A	101099720	G	A	101099720	2	1	133	1	0	0	0	0	0	0	0	1	10502	1020	36	4		4	NMS	2	101099720	Silent	SNP	G	TCGA-CD-5798-01A-11D-1600-08	64063770	101099720	142099653	14	78504											
MFSD9	84804	broad.mit.edu	37	chr2	103335364	103335364	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caccttgggccgcaccccaaAgcgctcctccagggccagga	11	18	0	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr2:103335364A>C	uc002tcb.2	-	6	1008	c.940T>G	c.(940-942)TTT>GTT	p.F314V	MFSD9_uc010fja.2_RNA	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing	314					transmembrane transport	integral to membrane|plasma membrane	transporter activity			ovary(2)|breast(2)	4						CGCACCCCAAAGCGCTCCTCC	0.582													C	103335364	A	C	103335364	3	2	133	1	0	0	0	0	1	0	0	0	9539	72	3	5	488	5	MFSD9	2	103335364	Missense_Mutation	SNP	A	TCGA-CD-5798-01A-11D-1600-08	2235644	103335364	139864009	15	78505											
TUBA3E	112714	broad.mit.edu	37	chr2	130951728	130951728	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacacgatctgcccaatcagGcgattgaggttggtgtacgt	13	9	2	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr2:130951728G>T	uc002tqv.2	-	4	788	c.687C>A	c.(685-687)CGC>CGA	p.R229R		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	229					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1	Colorectal(110;0.1)					GCCCAATCAGGCGATTGAGGT	0.537													T	130951728	G	T	130951728	2	4	133	1	0	0	0	0	0	0	0	1	16745	1190	42	5		5	TUBA3E	2	130951728	Silent	SNP	G	TCGA-CD-5798-01A-11D-1600-08	27616364	130951728	112247645	16	78506											
YSK4	80122	broad.mit.edu	37	chr2	135745629	135745629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagagtcggatccatcaaCgacttaactagggctcccgg	11	12	1	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr2:135745629C>T	uc002tue.1	-	7	844	c.813G>A	c.(811-813)TCG>TCA	p.S271S	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.S158S|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_5'UTR|YSK4_uc002tui.3_Silent_p.S288S	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	271							ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)		GATCCATCAACGACTTAACTA	0.483													T	135745629	C	T	135745629	2	4	133	1	0	0	0	0	0	0	0	1	17492	523	19	1		1	YSK4	2	135745629	Silent	SNP	C	TCGA-CD-5798-01A-11D-1600-08	4793901	135745629	107453744	17	78507											
TTN	7273	broad.mit.edu	37	chr2	179402435	179402435	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcaggtataaacaccttcatCttcctgttcctctgtcatta	5	12	4	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr2:179402435C>T	uc010zfg.1	-	304	92019	c.91795G>A	c.(91795-91797)GAT>AAT	p.D30599N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D24294N|TTN_uc010zfi.1_Missense_Mutation_p.D24227N|TTN_uc010zfj.1_Missense_Mutation_p.D24102N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31526							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACCTTCATCTTCCTGTTCC	0.438													T	179402435	C	T	179402435	3	4	133	1	0	0	0	0	1	0	0	0	16732	913	32	4	8512	4	TTN	2	179402435	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08	43656806	179402435	63796938	18	78508											
TTN	7273	broad.mit.edu	37	chr2	179472999	179472999	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actctgaagacataggtgagTccttctaataagccatctac	7	10	3	3			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr2:179472999T>C	uc010zfg.1	-	224	45131	c.44907A>G	c.(44905-44907)GGA>GGG	p.G14969G	uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G8664G|TTN_uc010zfi.1_Silent_p.G8597G|TTN_uc010zfj.1_Silent_p.G8472G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15896							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATAGGTGAGTCCTTCTAATA	0.428													C	179472999	T	C	179472999	2	2	133	1	0	0	0	0	0	0	0	1	16732	1654	58	3		3	TTN	2	179472999	Silent	SNP	T	TCGA-CD-5798-01A-11D-1600-08	70564	179472999	63726374	19	78509											
ITGA4	3676	broad.mit.edu	37	chr2	182343498	182343498	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttagattatgtgaaaaaaTttggagaaaattttgcatca	7	2	1	3			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr2:182343498T>A	uc002unu.2	+	5	1334	c.571T>A	c.(571-573)TTT>ATT	p.F191I	ITGA4_uc010zfl.1_Missense_Mutation_p.F191I	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	191	FG-GAP 3.|Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGTGAAAAAATTTGGAGAAAA	0.244													A	182343498	T	A	182343498	3	1	133	1	0	0	0	0	1	0	0	0	7878	1493	52	5	589	5	ITGA4	2	182343498	Missense_Mutation	SNP	T	TCGA-CD-5798-01A-11D-1600-08	2870499	182343498	60855875	20	78510											
DNER	92737	broad.mit.edu	37	chr2	230312248	230312248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttcttcacaagcagatcCgaagtatcctgtgaaaaaac	6	10	2	2			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr2:230312248C>T	uc002vpv.2	-	8	1417	c.1270G>A	c.(1270-1272)GGA>AGA	p.G424R	DNER_uc010zly.1_Missense_Mutation_p.G152R	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	424	Extracellular (Potential).|EGF-like 5.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CAAGCAGATCCGAAGTATCCT	0.453													T	230312248	C	T	230312248	3	4	133	1	0	0	0	0	1	0	0	0	4667	661	23	1	967	1	DNER	2	230312248	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08	47968750	230312248	12887125	21	78511											
COPG	22820	broad.mit.edu	37	chr3	128987415	128987415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagaaaaaccttttgacCtcaagtctgtgcccctggcc	7	14	3	2			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr3:128987415C>T	uc003els.2	+	17	1826	c.1726C>T	c.(1726-1728)CTC>TTC	p.L576F	COPG_uc010htb.2_Missense_Mutation_p.L482F	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	576					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4						ACCTTTTGACCTCAAGTCTGT	0.562													T	128987415	C	T	128987415	3	4	133	1	0	0	0	0	1	0	0	0	3731	681	24	4	1792	4	COPG	3	128987415	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08		128987415	69035015	22	78512											
TRIML1	339976	broad.mit.edu	37	chr4	189061023	189061023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcccaccactgccaaggCgctctccgatgacgagcagg	12	15	1	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr4:189061023C>T	uc003izm.1	+	1	426	c.311C>T	c.(310-312)GCG>GTG	p.A104V		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	104					multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ACTGCCAAGGCGCTCTCCGAT	0.642													T	189061023	C	T	189061023	3	4	133	1	0	0	0	0	1	0	0	0	16547	768	27	1	313	1	TRIML1	4	189061023	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08		189061023	2093253	23	78513											
SLC9A3	6550	broad.mit.edu	37	chr5	475096	475096	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgctgaggcggaagggcatCaggcggcagaaggtgccggg	20	9	1	2			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr5:475096C>T	uc003jbe.2	-	16	2515	c.2403G>A	c.(2401-2403)CTG>CTA	p.L801L	SLC9A3_uc011clx.1_Silent_p.L792L|LOC25845_uc003jbd.2_5'Flank|LOC25845_uc010itb.1_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	801	Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGAAGGGCATCAGGCGGCAGA	0.711													T	475096	C	T	475096	2	4	133	1	0	0	0	0	0	0	0	1	14713	813	29	4		4	SLC9A3	5	475096	Silent	SNP	C	TCGA-CD-5798-01A-11D-1600-08		475096	180440164	24	78514			1	36		3	3	147	C		1.104192e-07
SLC9A3	6550	broad.mit.edu	37	chr5	475129	475129	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtgccgggagagtagggaatCtgcgtgcgggccctctgcga	18	10	2	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr5:475129C>G	uc003jbe.2	-	16	2482	c.2370G>C	c.(2368-2370)CAG>CAC	p.Q790H	SLC9A3_uc011clx.1_Missense_Mutation_p.Q781H|LOC25845_uc003jbd.2_5'Flank|LOC25845_uc010itb.1_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	790	Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGTAGGGAATCTGCGTGCGGG	0.706													G	475129	C	G	475129	3	3	133	1	0	0	0	0	1	0	0	0	14713	912	32	5	142	5	SLC9A3	5	475129	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08	33	475129	180440131	25	78515			1	36		3	3	147	C		1.104192e-07
SLC9A3	6550	broad.mit.edu	37	chr5	475242	475242	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cggagaaaacacagggttgtCaattcctaggagagagggca	14	7	1	2			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr5:475242C>G	uc003jbe.2	-	16	2369	c.2257G>C	c.(2257-2259)GAC>CAC	p.D753H	SLC9A3_uc011clx.1_Missense_Mutation_p.D744H|LOC25845_uc003jbd.2_5'Flank|LOC25845_uc010itb.1_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	753	Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACAGGGTTGTCAATTCCTAGG	0.687													G	475242	C	G	475242	3	3	133	1	0	0	0	0	1	0	0	0	14713	826	29	5	255	5	SLC9A3	5	475242	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08	113	475242	180440018	26	78516			1	36		3	3	147	C		1.104192e-07
CTNND2	1501	broad.mit.edu	37	chr5	10992707	10992707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacaggggagatggagggcGtgcgggaggaggagtagggc	24	5	0	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr5:10992707G>A	uc003jfa.1	-	19	3312	c.3167C>T	c.(3166-3168)ACG>ATG	p.T1056M	CTNND2_uc010itt.2_Missense_Mutation_p.T965M|CTNND2_uc011cmy.1_Missense_Mutation_p.T719M|CTNND2_uc011cmz.1_Missense_Mutation_p.T623M|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.T648M	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1056					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						GATGGAGGGCGTGCGGGAGGA	0.582													A	10992707	G	A	10992707	3	1	133	1	0	0	0	0	1	0	0	0	4020	1145	40	1	526	1	CTNND2	5	10992707	Missense_Mutation	SNP	G	TCGA-CD-5798-01A-11D-1600-08	10517465	10992707	169922553	27	78517											
DNAH5	1767	broad.mit.edu	37	chr5	13717530	13717530	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccaccccagggcaccgaacTtgcgcctctcctggacagtg	10	17	1	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr5:13717530T>A	uc003jfd.2	-	73	12641	c.12599A>T	c.(12598-12600)AAG>ATG	p.K4200M	DNAH5_uc003jfc.2_Missense_Mutation_p.K368M	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4200	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K4200T(1)		ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GGCACCGAACTTGCGCCTCTC	0.552									Kartagener_syndrome				A	13717530	T	A	13717530	3	1	133	1	0	0	0	0	1	0	0	0	4604	1609	56	5	1303	5	DNAH5	5	13717530	Missense_Mutation	SNP	T	TCGA-CD-5798-01A-11D-1600-08	2724823	13717530	167197730	28	78518											
ZFYVE16	9765	broad.mit.edu	37	chr5	79733463	79733463	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttaaatgattcaaattcaaGagatgaaaatttcaaattac	4	5	3	3			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr5:79733463G>A	uc003kgr.3	+	4	1261	c.959G>A	c.(958-960)AGA>AAA	p.R320K	ZFYVE16_uc010jak.1_Missense_Mutation_p.R320K|ZFYVE16_uc003kgp.2_Missense_Mutation_p.R320K|ZFYVE16_uc003kgq.3_Missense_Mutation_p.R320K|ZFYVE16_uc003kgs.3_Missense_Mutation_p.R320K	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	320					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity				0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TCAAATTCAAGAGATGAAAAT	0.343													A	79733463	G	A	79733463	3	1	133	1	0	0	0	0	1	0	0	0	17661	942	33	4	965	4	ZFYVE16	5	79733463	Missense_Mutation	SNP	G	TCGA-CD-5798-01A-11D-1600-08	66015933	79733463	101181797	29	78519											
PCDHA9	9752	broad.mit.edu	37	chr5	140229950	140229950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgagcatcccgttccgcGtggggctgtacacgggcgag	17	13	0	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr5:140229950G>A	uc003lhu.2	+	1	2594	c.1870G>A	c.(1870-1872)GTG>ATG	p.V624M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.V624M	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	624	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.V624M(1)		large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGTTCCGCGTGGGGCTGTA	0.672													A	140229950	G	A	140229950	3	1	133	1	0	0	0	0	1	0	0	0	11531	1145	40	1	1872	1	PCDHA9	5	140229950	Missense_Mutation	SNP	G	TCGA-CD-5798-01A-11D-1600-08	60496487	140229950	40685310	30	78520											
PCDHAC2	56134	broad.mit.edu	37	chr5	140346755	140346755	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgtggcggtgagcgccgttgAggtggaaatattggacatca	16	7	1	2			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr5:140346755A>T	uc003lii.2	+	1	644	c.404A>T	c.(403-405)GAG>GTG	p.E135V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.E135V	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	135	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGCCGTTGAGGTGGAAATA	0.622													T	140346755	A	T	140346755	3	4	133	1	0	0	0	0	1	0	0	0	11533	304	11	5	406	5	PCDHAC2	5	140346755	Missense_Mutation	SNP	A	TCGA-CD-5798-01A-11D-1600-08	116805	140346755	40568505	31	78521											
PCDHGA5	56110	broad.mit.edu	37	chr5	140745345	140745345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaccccgacagcggcgAcaacgctcgagtcacctact	9	17	1	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr5:140745345A>G	uc003lju.1	+	1	1448	c.1448A>G	c.(1447-1449)GAC>GGC	p.D483G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.D483G	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	483	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGCGGCGACAACGCTCGA	0.542													G	140745345	A	G	140745345	3	3	133	1	0	0	0	0	1	0	0	0	11557	275	10	3	1450	3	PCDHGA5	5	140745345	Missense_Mutation	SNP	A	TCGA-CD-5798-01A-11D-1600-08	398590	140745345	40169915	32	78522											
GABRG2	2566	broad.mit.edu	37	chr5	161576230	161576230	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttgtttcatctttgtcTtctctgctctggtggagtat	9	8	5	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr5:161576230T>G	uc003lyz.3	+	8	1397	c.1039T>G	c.(1039-1041)TTC>GTC	p.F347V	GABRG2_uc010jjc.2_Missense_Mutation_p.F387V|GABRG2_uc003lyy.3_Missense_Mutation_p.F347V|GABRG2_uc011dej.1_Missense_Mutation_p.F252V	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	347	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CATCTTTGTCTTCTCTGCTCT	0.448													G	161576230	T	G	161576230	3	3	133	1	0	0	0	0	1	0	0	0	6172	1609	56	5	1193	5	GABRG2	5	161576230	Missense_Mutation	SNP	T	TCGA-CD-5798-01A-11D-1600-08	20830885	161576230	19339030	33	78523											
TDP2	51567	broad.mit.edu	37	chr6	24654688	24654688	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggtacttggaaaaggaatAatctcttggctttttaattt	8	4	1	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr6:24654688A>C	uc003nej.2	-	5	613	c.588T>G	c.(586-588)ATT>ATG	p.I196M	TDP2_uc003nei.2_Missense_Mutation_p.I84M|TDP2_uc010jpu.1_Missense_Mutation_p.I196M	NM_016614	NP_057698	O95551	TYDP2_HUMAN	TRAF and TNF receptor-associated protein	196					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			ovary(1)|lung(1)	2						GAAAAGGAATAATCTCTTGGC	0.284								Direct_reversal_of_damage|Editing_and_processing_nucleases					C	24654688	A	C	24654688	3	2	133	1	0	0	0	0	1	0	0	0	15726	358	13	5	512	5	TDP2	6	24654688	Missense_Mutation	SNP	A	TCGA-CD-5798-01A-11D-1600-08		24654688	146460379	34	78524											
PRSS35	167681	broad.mit.edu	37	chr6	84233267	84233267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacttgagaaaggtaccccGgattgtcagtgaaaggactt	12	8	1	2			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr6:84233267G>A	uc003pjz.2	+	2	270	c.107G>A	c.(106-108)CGG>CAG	p.R36Q	PRSS35_uc010kbm.2_Missense_Mutation_p.R36Q	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35 precursor	36					proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		AAGGTACCCCGGATTGTCAGT	0.453													A	84233267	G	A	84233267	3	1	133	1	0	0	0	0	1	0	0	0	12624	1116	39	1	109	1	PRSS35	6	84233267	Missense_Mutation	SNP	G	TCGA-CD-5798-01A-11D-1600-08	59578579	84233267	86881800	35	78525											
CNR1	1268	broad.mit.edu	37	chr6	88854252	88854252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggagaggcagcacggCgatcacaatggctatggtcc	14	12	1	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr6:88854252C>T	uc011dzq.1	-	2	4305	c.742G>A	c.(742-744)GCC>ACC	p.A248T	CNR1_uc010kbz.2_Missense_Mutation_p.A248T|CNR1_uc011dzr.1_Missense_Mutation_p.A248T|CNR1_uc011dzs.1_Missense_Mutation_p.A248T|CNR1_uc003pmq.3_Missense_Mutation_p.A248T|CNR1_uc011dzt.1_Missense_Mutation_p.A248T|CNR1_uc010kca.2_Missense_Mutation_p.A215T	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	248	Helical; Name=4; (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GGCAGCACGGCGATCACAATG	0.527													T	88854252	C	T	88854252	3	4	133	1	0	0	0	0	1	0	0	0	3631	768	27	1	680	1	CNR1	6	88854252	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08	4620985	88854252	82260815	36	78526											
MICAL1	64780	broad.mit.edu	37	chr6	109767510	109767510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctggagaggcggatctgccGacgggtgggctggctgggat	21	8	1	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr6:109767510G>A	uc003ptj.2	-	18	2664	c.2410C>T	c.(2410-2412)CGG>TGG	p.R804W	MICAL1_uc003ptk.2_Missense_Mutation_p.R804W|MICAL1_uc010kdr.2_Missense_Mutation_p.R718W|MICAL1_uc011eaq.1_Missense_Mutation_p.R823W	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	804					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CGGATCTGCCGACGGGTGGGC	0.662													A	109767510	G	A	109767510	3	1	133	1	0	0	0	0	1	0	0	0	9569	1057	37	1	821	1	MICAL1	6	109767510	Missense_Mutation	SNP	G	TCGA-CD-5798-01A-11D-1600-08	20913258	109767510	61347557	37	78527											
DNAH11	8701	broad.mit.edu	37	chr7	21628979	21628979	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatcaacccttggttaaattCagtgccataaatggtcttct	6	9	4	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr7:21628979C>A	uc003svc.2	+	12	2158	c.2127C>A	c.(2125-2127)TTC>TTA	p.F709L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	709	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TGGTTAAATTCAGTGCCATAA	0.318									Kartagener_syndrome				A	21628979	C	A	21628979	3	1	133	1	0	0	0	0	1	0	0	0	4599	825	29	5	2173	5	DNAH11	7	21628979	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08		21628979	137509684	38	78528											
NFE2L3	9603	broad.mit.edu	37	chr7	26225016	26225022	+	Frame_Shift_Del	DEL	AAGTAGA	AAGTAGA	-													gattctttcaatagcatgttAagtagatattatctgacaga							TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr7:26225015_26225021TAAGTAGA>T	uc003sxq.3	+	3	1969_1975	c.1697_1703TAAGTAGA>T	c.(1696-1704)ttaagtagafs	p.L566fs		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 3 (NFE2L3), mRNA.	566					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AATAGCATGTTAAGTAGATATTATCTG	0.411													-	26225022	AAGTAGA	-	26225016	7	5	133	1	0	1	0	1	0	0	0	0	10369	359	13	0	1712	0	NFE2L3	7	26225016	Frame_Shift_Del	DEL	AAGTAGA	TCGA-CD-5798-01A-11D-1600-08	4596037	26225016	132913647	39	78529											
INHBA	3624	broad.mit.edu	37	chr7	41739722	41739722	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagctttctgatcgcgttcAgaagcgccgccttgggtacc	12	12	2	2			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr7:41739722A>T	uc003thq.2	-	1	486	c.251T>A	c.(250-252)CTG>CAG	p.L84Q	LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Missense_Mutation_p.L84Q|LOC285954_uc003ths.2_Intron	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	84					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			lung(5)|ovary(1)	6						GATCGCGTTCAGAAGCGCCGC	0.517										TSP Lung(11;0.080)			T	41739722	A	T	41739722	3	4	133	1	0	0	0	0	1	0	0	0	7741	188	7	5	1037	5	INHBA	7	41739722	Missense_Mutation	SNP	A	TCGA-CD-5798-01A-11D-1600-08	15514706	41739722	117398941	40	78530											
DNAJC2	27000	broad.mit.edu	37	chr7	102968125	102968125	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttagttatgcaagtgaagtaGtcattatctccttcttttat	6	6	3	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr7:102968125G>C	uc003vbo.2	-	4	659	c.408C>G	c.(406-408)GAC>GAG	p.D136E	PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_5'UTR|DNAJC2_uc010lix.2_Missense_Mutation_p.D136E|DNAJC2_uc003vbp.2_5'UTR|DNAJC2_uc003vbq.1_RNA	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	136	J.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			kidney(1)	1						AAGTGAAGTAGTCATTATCTC	0.338													C	102968125	G	C	102968125	3	2	133	1	0	0	0	0	1	0	0	0	4639	1020	36	5	1513	5	DNAJC2	7	102968125	Missense_Mutation	SNP	G	TCGA-CD-5798-01A-11D-1600-08	61228403	102968125	56170538	41	78531											
BLK	640	broad.mit.edu	37	chr8	11400743	11400743	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctccgacaggatggggctgGtaagtagcaaaaagccggac	14	9	1	0	rs151045602		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr8:11400743G>C	uc003wty.2	+	2	591	c.10G>C	c.(10-12)GTA>CTA	p.V4L	BLK_uc003wtz.2_Intron	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	4					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|stomach(1)|ovary(1)	3			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GATGGGGCTGGTAAGTAGCAA	0.612													C	11400743	G	C	11400743	3	2	133	1	0	0	0	0	1	0	0	0	1444	1261	44	5	12	5	BLK	8	11400743	Missense_Mutation	SNP	G	TCGA-CD-5798-01A-11D-1600-08		11400743	134963279	42	78532											
FZD3	7976	broad.mit.edu	37	chr8	28385012	28385012	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattttatgcagtctgctaCatgatggtatccttaatttt	6	6	1	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr8:28385012C>T	uc003xgx.2	+	5	1213	c.735C>T	c.(733-735)TAC>TAT	p.Y245Y	FZD3_uc010lvb.2_Silent_p.Y245Y	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3 precursor	245	Helical; Name=2; (Potential).				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		CAGTCTGCTACATGATGGTAT	0.383													T	28385012	C	T	28385012	2	4	133	1	0	0	0	0	0	0	0	1	6131	489	17	4		4	FZD3	8	28385012	Silent	SNP	C	TCGA-CD-5798-01A-11D-1600-08	16984269	28385012	117979010	43	78533											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37730604	37730604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaggggacagatgcctgGccagagctagaaggaagagg	17	7	1	5			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr8:37730604G>A	uc003xkm.1	-	4	1760	c.1716C>T	c.(1714-1716)GGC>GGT	p.G572G	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	572	Ser-rich.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CAGATGCCTGGCCAGAGCTAG	0.557													A	37730604	G	A	37730604	2	1	133	1	0	0	0	0	0	0	0	1	12893	1190	42	2		2	RAB11FIP1	8	37730604	Silent	SNP	G	TCGA-CD-5798-01A-11D-1600-08	9345592	37730604	108633418	44	78534											
C8orf86	389649	broad.mit.edu	37	chr8	38374012	38374012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgcgagtctctcccagtGgcctgtattctcataagcct	9	12	2	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr8:38374012G>A	uc003xlx.1	-	2	359	c.334C>T	c.(334-336)CAC>TAC	p.H112Y		NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN	hypothetical protein LOC389649	112											0						CTCTCCCAGTGGCCTGTATTC	0.448													A	38374012	G	A	38374012	3	1	133	1	0	0	0	0	1	0	0	0	2442	1348	47	4	345	4	C8orf86	8	38374012	Missense_Mutation	SNP	G	TCGA-CD-5798-01A-11D-1600-08	643408	38374012	107990010	45	78535											
CYP7B1	9420	broad.mit.edu	37	chr8	65509340	65509340	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtataaccaacaattgTtttatttccataagtgcaaa	4	6	0	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr8:65509340T>G	uc003xvj.2	-	6	1584	c.1380A>C	c.(1378-1380)AAA>AAC	p.K460N		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	460					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				CCAACAATTGTTTTATTTCCA	0.353													G	65509340	T	G	65509340	3	3	133	1	0	0	0	0	1	0	0	0	4197	1722	60	5	144	5	CYP7B1	8	65509340	Missense_Mutation	SNP	T	TCGA-CD-5798-01A-11D-1600-08	27135328	65509340	80854682	46	78536											
NIPAL2	79815	broad.mit.edu	37	chr8	99224702	99224702	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttttatagaaatacaggaGaatgcagaaaattaatattt	6	3	1	3			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr8:99224702G>A	uc003yil.1	-	6	842	c.586C>T	c.(586-588)CTC>TTC	p.L196F	NIPAL2_uc011lgw.1_5'UTR|NIPAL2_uc003yim.1_Missense_Mutation_p.L196F	NM_024759	NP_079035	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	196	Helical; (Potential).					integral to membrane					0						AAATACAGGAGAATGCAGAAA	0.299													A	99224702	G	A	99224702	3	1	133	1	0	0	0	0	1	0	0	0	10425	942	33	4	548	4	NIPAL2	8	99224702	Missense_Mutation	SNP	G	TCGA-CD-5798-01A-11D-1600-08	33715362	99224702	47139320	47	78537											
RECK	8434	broad.mit.edu	37	chr9	36087862	36087862	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttcttgaaagctcacaatCtgttcaccctggagtcactg	7	11	5	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr9:36087862C>T	uc003zyv.2	+	9	895	c.809C>T	c.(808-810)TCT>TTT	p.S270F	RECK_uc003zyw.2_Missense_Mutation_p.S142F|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	270	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AGCTCACAATCTGTTCACCCT	0.458													T	36087862	C	T	36087862	3	4	133	1	0	0	0	0	1	0	0	0	13200	913	32	4	843	4	RECK	9	36087862	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08		36087862	105125569	48	78538											
ASTN2	23245	broad.mit.edu	37	chr9	119976957	119976957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggcgacgcttctgccaaCgtcgctgggcgtacagcgcc	14	15	1	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr9:119976957C>T	uc004bjs.1	-	3	796	c.695G>A	c.(694-696)CGT>CAT	p.R232H	ASTN2_uc004bjr.1_Missense_Mutation_p.R232H|ASTN2_uc004bjt.1_Missense_Mutation_p.R232H	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	232	Cytoplasmic (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						CTTCTGCCAACGTCGCTGGGC	0.632													T	119976957	C	T	119976957	3	4	133	1	0	0	0	0	1	0	0	0	1065	536	19	1	3483	1	ASTN2	9	119976957	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08	83889095	119976957	21236474	49	78539											
CDK9	1025	broad.mit.edu	37	chr9	130551812	130551812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccagacggagtttgagcGcgtcttctgagggccggcgc	15	12	2	3			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr9:130551812G>A	uc004bse.2	+	7	1232	c.1109G>A	c.(1108-1110)CGC>CAC	p.R370H		NM_001261	NP_001252	P50750	CDK9_HUMAN	cyclin-dependent kinase 9	370					cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1						GAGTTTGAGCGCGTCTTCTGA	0.562													A	130551812	G	A	130551812	3	1	133	1	0	0	0	0	1	0	0	0	3151	1087	38	1	1135	1	CDK9	9	130551812	Missense_Mutation	SNP	G	TCGA-CD-5798-01A-11D-1600-08	10574855	130551812	10661619	50	78540											
EHMT1	79813	broad.mit.edu	37	chr9	140646788	140646788	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtggctgatcagatggaCggggagtccgaggaggagca	19	6	1	2			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr9:140646788C>T	uc011mfc.1	+	7	1213	c.1176C>T	c.(1174-1176)GAC>GAT	p.D392D	EHMT1_uc004coa.2_Silent_p.D392D|EHMT1_uc004cob.1_Silent_p.D361D	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	392					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ATCAGATGGACGGGGAGTCCG	0.572													T	140646788	C	T	140646788	2	4	133	1	0	0	0	0	0	0	0	1	4983	535	19	1		1	EHMT1	9	140646788	Silent	SNP	C	TCGA-CD-5798-01A-11D-1600-08	10094976	140646788	566643	51	78541											
ZNF33A	7581	broad.mit.edu	37	chr10	38345151	38345151	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgcaatgaatgtgggaAattcttcaggcacaaatcat	9	6	3	2			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr10:38345151A>C	uc001izh.2	+	5	2274	c.2096A>C	c.(2095-2097)AAA>ACA	p.K699T	ZNF33A_uc001izg.2_Missense_Mutation_p.K700T|ZNF33A_uc010qev.1_Missense_Mutation_p.K706T|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	699	C2H2-type 14.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						GAATGTGGGAAATTCTTCAGG	0.383													C	38345151	A	C	38345151	3	2	133	1	0	0	0	0	1	0	0	0	17851	14	1	5	2113	5	ZNF33A	10	38345151	Missense_Mutation	SNP	A	TCGA-CD-5798-01A-11D-1600-08		38345151	97189596	52	78542											
GPAM	57678	broad.mit.edu	37	chr10	113917036	113917036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaatctcgctgttcctcccCaaagtcactgtcttcatctt	5	15	5	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr10:113917036C>T	uc009xxy.1	-	19	2290	c.2092G>A	c.(2092-2094)GGG>AGG	p.G698R	GPAM_uc001kzp.2_Missense_Mutation_p.G698R|GPAM_uc001kzq.1_Missense_Mutation_p.G698R	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	698	Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential).				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			ovary(1)|skin(1)	2				Epithelial(162;0.0306)|all cancers(201;0.123)		TGTTCCTCCCCAAAGTCACTG	0.463													T	113917036	C	T	113917036	3	4	133	1	0	0	0	0	1	0	0	0	6588	594	21	4	410	4	GPAM	10	113917036	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08	75571885	113917036	21617711	53	78543											
STIM1	6786	broad.mit.edu	37	chr11	4112528	4112528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagggatttgacccattccGattcggagtcctccctccac	9	15	0	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr11:4112528G>A	uc001lyv.2	+	12	2126	c.1558G>A	c.(1558-1560)GAT>AAT	p.D520N	STIM1_uc009yef.2_Missense_Mutation_p.R532Q|STIM1_uc009yeg.2_Missense_Mutation_p.D347N	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	520	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			pancreas(1)	1		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GACCCATTCCGATTCGGAGTC	0.468													A	4112528	G	A	4112528	3	1	133	1	0	0	0	0	1	0	0	0	15282	1058	37	1	1604	1	STIM1	11	4112528	Missense_Mutation	SNP	G	TCGA-CD-5798-01A-11D-1600-08		4112528	130893988	54	78544											
CKAP5	9793	broad.mit.edu	37	chr11	46799045	46799045	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaattttttacatgttgctTaatatttgggcccatggcta	7	6	0	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr11:46799045T>G	uc001ndi.1	-	23	2916	c.2806A>C	c.(2806-2808)AAG>CAG	p.K936Q	CKAP5_uc009ylg.1_Missense_Mutation_p.K822Q|CKAP5_uc001ndj.1_Missense_Mutation_p.K936Q	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	936	HEAT 6.				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						ACATGTTGCTTAATATTTGGG	0.428													G	46799045	T	G	46799045	3	3	133	1	0	0	0	0	1	0	0	0	3445	1763	61	5	3380	5	CKAP5	11	46799045	Missense_Mutation	SNP	T	TCGA-CD-5798-01A-11D-1600-08	42686517	46799045	88207471	55	78545											
LRP4	4038	broad.mit.edu	37	chr11	46918479	46918479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcgtcctccccatcacagCgccaggacaggcggacacag	11	16	1	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr11:46918479C>T	uc001ndn.3	-	8	1009	c.863G>A	c.(862-864)CGC>CAC	p.R288H		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	288	Extracellular (Potential).|LDL-receptor class A 7.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		CCCATCACAGCGCCAGGACAG	0.577													T	46918479	C	T	46918479	3	4	133	1	0	0	0	0	1	0	0	0	8959	768	27	1	4978	1	LRP4	11	46918479	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08	119434	46918479	88088037	56	78546											
OR5T2	219464	broad.mit.edu	37	chr11	56000616	56000616	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaagaatgaacaacaccatGactcaaggggatgttaactg	9	7	1	3			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr11:56000616G>T	uc010rjc.1	-	1	46	c.46C>A	c.(46-48)CAT>AAT	p.H16N		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	16	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					ACAACACCATGACTCAAGGGG	0.348													T	56000616	G	T	56000616	3	4	133	1	0	0	0	0	1	0	0	0	11182	1290	45	5	1032	5	OR5T2	11	56000616	Missense_Mutation	SNP	G	TCGA-CD-5798-01A-11D-1600-08	9082137	56000616	79005900	57	78547											
ATM	472	broad.mit.edu	37	chr11	108192027	108192027	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttttcttttttgctactaGagtaaaagaagtggaagaga	9	4	2	3			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr11:108192027G>A	uc001pkb.1	+	45	6838	c.6453_splice	c.e45-1	p.R2151_splice	ATM_uc009yxr.1_Splice_Site_p.R2151_splice|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Splice_Site_p.R803_splice|ATM_uc001pkg.1_Splice_Site_p.R508_splice	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1						cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTTGCTACTAGAGTAAAAGAA	0.398			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			A	108192027	G	A	108192027	5	1	133	1	0	0	0	0	0	0	1	0	1109	956	33	4	6626	4	ATM	11	108192027	Splice_Site	SNP	G	TCGA-CD-5798-01A-11D-1600-08	52191411	108192027	26814489	58	78548											
CXCR5	643	broad.mit.edu	37	chr11	118765330	118765333	+	Frame_Shift_Del	DEL	TCTC	TCTC	-													cctagctggcgcaggagcagTctctctgagtcagagaatgc							TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr11:118765329_118765332GTCTC>G	uc001pue.4	+	1	1252_1255	c.1076_1079GTCTC>G	c.(1075-1080)agtctcfs	p.S359fs	CXCR5_uc001puf.3_Frame_Shift_Del_p.S314fs	NM_001716	NP_116743	P32302	CXCR5_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 5 (CXCR5), transcript variant 1, mRNA.	359					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CGCAGGAGCAGTCTCTCTGAGTCA	0.603													-	118765333	TCTC	-	118765330	7	5	133	1	0	1	0	1	0	0	0	0	4094	1664	58	0	1083	0	CXCR5	11	118765330	Frame_Shift_Del	DEL	TCTC	TCGA-CD-5798-01A-11D-1600-08	10573303	118765330	16241186	59	78549											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6439826	6439826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaaaccaatgaagaggaggGataaaaggcaaagaccaaag	11	5	0	3			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr12:6439826G>A	uc001qnu.2	-	7	958	c.677C>T	c.(676-678)TCC>TTC	p.S226F	TNFRSF1A_uc001qnt.2_Missense_Mutation_p.S118F|TNFRSF1A_uc010sey.1_5'UTR|TNFRSF1A_uc010sez.1_Missense_Mutation_p.S118F|TNFRSF1A_uc009zek.2_Missense_Mutation_p.S183F	NM_001065	NP_001056	P19438	TNR1A_HUMAN	tumor necrosis factor receptor 1 precursor	226	Helical; (Potential).				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			lung(2)|skin(1)	3						GAAGAGGAGGGATAAAAGGCA	0.562													A	6439826	G	A	6439826	3	1	133	1	0	0	0	0	1	0	0	0	16290	1174	41	4	706	4	TNFRSF1A	12	6439826	Missense_Mutation	SNP	G	TCGA-CD-5798-01A-11D-1600-08		6439826	127412069	60	78550											
TAS2R9	50835	broad.mit.edu	37	chr12	10962536	10962536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatggccaagctgatcaggaTgatgtcaatcaaggaaatat	11	6	3	2			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr12:10962536T>C	uc001qyx.2	-	1	232	c.139A>G	c.(139-141)ATC>GTC	p.I47V	TAS2R8_uc010shh.1_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	47	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			skin(1)	1						CTGATCAGGATGATGTCAATC	0.413													C	10962536	T	C	10962536	3	2	133	1	0	0	0	0	1	0	0	0	15585	1464	51	3	803	3	TAS2R9	12	10962536	Missense_Mutation	SNP	T	TCGA-CD-5798-01A-11D-1600-08	4522710	10962536	122889359	61	78551											
EPS8	2059	broad.mit.edu	37	chr12	15784459	15784459	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgttttgacgtgttAtatttgctgggacctttgac	11	7	0	2			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr12:15784459A>T	uc009zif.2	-	18	2055	c.1961T>A	c.(1960-1962)ATA>AAA	p.I654K	EPS8_uc001rdb.2_Missense_Mutation_p.I654K|EPS8_uc009zig.2_Missense_Mutation_p.I394K|EPS8_uc010shv.1_Missense_Mutation_p.I394K	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	654					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TTGACGTGTTATATTTGCTGG	0.557													T	15784459	A	T	15784459	3	4	133	1	0	0	0	0	1	0	0	0	5194	449	16	5	523	5	EPS8	12	15784459	Missense_Mutation	SNP	A	TCGA-CD-5798-01A-11D-1600-08	4821923	15784459	118067436	62	78552											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr12:25398284C>T	uc001rgp.1	-	2	216	c.35G>A	c.(34-36)GGT>GAT	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25398284	C	T	25398284	3	4	133	1	0	0	0	0	1	0	0	0	8438	507	18	4	671	4	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08	9613825	25398284	108453611	63	78553											
SHMT2	6472	broad.mit.edu	37	chr12	57626616	57626616	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccactactcacaagactcttCgaggggccaggtcaggctcc	10	15	3	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr12:57626616C>T	uc001snf.1	+	7	857	c.847C>T	c.(847-849)CGA>TGA	p.R283*	SHMT2_uc001sng.1_Nonsense_Mutation_p.R179*|SHMT2_uc001snh.1_Nonsense_Mutation_p.R122*|SHMT2_uc009zpk.1_Nonsense_Mutation_p.R273*|SHMT2_uc001sni.1_Nonsense_Mutation_p.R262*|SHMT2_uc010srg.1_Nonsense_Mutation_p.R292*|SHMT2_uc001snj.1_Nonsense_Mutation_p.R187*|SHMT2_uc010srh.1_Nonsense_Mutation_p.R262*|SHMT2_uc001snk.1_Nonsense_Mutation_p.R187*|SHMT2_uc010sri.1_Nonsense_Mutation_p.R262*|SHMT2_uc001snl.2_Nonsense_Mutation_p.R187*|SHMT2_uc010srj.1_5'Flank	NM_005412	NP_005403	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2	283						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			ovary(1)|central_nervous_system(1)	2					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CAAGACTCTTCGAGGGGCCAG	0.602													T	57626616	C	T	57626616	4	4	133	1	0	0	0	0	0	1	0	0	14286	876	31	1	873	1	SHMT2	12	57626616	Nonsense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08	32228332	57626616	76225279	64	78554											
PLXNC1	10154	broad.mit.edu	37	chr12	94562997	94562997	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgatccattccgacctgacAtccgtttatggcaccgtggt	9	12	0	2			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr12:94562997A>T	uc001tdc.2	+	2	1380	c.1131A>T	c.(1129-1131)ACA>ACT	p.T377T		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	377	Extracellular (Potential).|Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						CCGACCTGACATCCGTTTATG	0.433													T	94562997	A	T	94562997	2	4	133	1	0	0	0	0	0	0	0	1	12126	204	8	5		5	PLXNC1	12	94562997	Silent	SNP	A	TCGA-CD-5798-01A-11D-1600-08	36936381	94562997	39288898	65	78555											
ACACB	32	broad.mit.edu	37	chr12	109613985	109613985	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaagaattggttttccattgAtgatcaaagcttctgaaggt	9	5	2	4			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr12:109613985A>T	uc001tob.2	+	9	1473	c.1354A>T	c.(1354-1356)ATG>TTG	p.M452L	ACACB_uc001toc.2_Missense_Mutation_p.M452L	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	452	Biotin carboxylation.|ATP-grasp.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	TTTTCCATTGATGATCAAAGC	0.512													T	109613985	A	T	109613985	3	4	133	1	0	0	0	0	1	0	0	0	107	333	12	5	1384	5	ACACB	12	109613985	Missense_Mutation	SNP	A	TCGA-CD-5798-01A-11D-1600-08	15050988	109613985	24237910	66	78556											
KCTD10	83892	broad.mit.edu	37	chr12	109889615	109889615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatccgggcttcgggaaactCcacctgtgttcccacagtat	9	13	0	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr12:109889615C>T	uc001toi.1	-	7	815	c.727G>A	c.(727-729)GAG>AAG	p.E243K	KCTD10_uc001toh.1_RNA|KCTD10_uc009zvi.1_Missense_Mutation_p.E217K|KCTD10_uc001toj.1_Missense_Mutation_p.E252K|KCTD10_uc001tok.1_Missense_Mutation_p.E62K	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	potassium channel tetramerisation domain	243	PCNA-binding (By similarity).				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity				0						TCGGGAAACTCCACCTGTGTT	0.582													T	109889615	C	T	109889615	3	4	133	1	0	0	0	0	1	0	0	0	8097	864	30	4	218	4	KCTD10	12	109889615	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08	275630	109889615	23962280	67	78557											
TMEM132D	121256	broad.mit.edu	37	chr12	129694077	129694077	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacttgccttaatcacgtcTtcatcagacgatctacactc	4	14	5	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr12:129694077T>C	uc009zyl.1	-	5	1759	c.1431A>G	c.(1429-1431)GAA>GAG	p.E477E		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	477	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TAATCACGTCTTCATCAGACG	0.532													C	129694077	T	C	129694077	2	2	133	1	0	0	0	0	0	0	0	1	16044	1606	56	3		3	TMEM132D	12	129694077	Silent	SNP	T	TCGA-CD-5798-01A-11D-1600-08	19804462	129694077	4157818	68	78558											
TMEM132D	121256	broad.mit.edu	37	chr12	130184802	130184802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgcacctctcgggtctctCggaaagcaaagaccctcagg	10	16	3	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr12:130184802C>T	uc009zyl.1	-	2	849	c.521G>A	c.(520-522)CGA>CAA	p.R174Q		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	174	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCGGGTCTCTCGGAAAGCAAA	0.682													T	130184802	C	T	130184802	3	4	133	1	0	0	0	0	1	0	0	0	16044	884	31	1	2810	1	TMEM132D	12	130184802	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08	490725	130184802	3667093	69	78559											
SACS	26278	broad.mit.edu	37	chr13	23910025	23910025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaatctctaaacatgcgtcCgggactaatggatgtggccc	10	11	1	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr13:23910025C>T	uc001uon.2	-	10	8579	c.7990G>A	c.(7990-7992)GGA>AGA	p.G2664R	SACS_uc001uoo.2_Missense_Mutation_p.G2517R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2664					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACATGCGTCCGGGACTAATG	0.418													T	23910025	C	T	23910025	3	4	133	1	0	0	0	0	1	0	0	0	13804	661	23	1	5753	1	SACS	13	23910025	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08		23910025	91259853	70	78560											
DCLK1	9201	broad.mit.edu	37	chr13	36700222	36700222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctcggctgtatctctgcGccttatcccgctcgtcgaag	9	16	1	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr13:36700222G>A	uc001uvf.2	-	2	286	c.53C>T	c.(52-54)GCG>GTG	p.A18V		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	18					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GTATCTCTGCGCCTTATCCCG	0.622													A	36700222	G	A	36700222	3	1	133	1	0	0	0	0	1	0	0	0	4291	1087	38	1	2204	1	DCLK1	13	36700222	Missense_Mutation	SNP	G	TCGA-CD-5798-01A-11D-1600-08	12790197	36700222	78469656	71	78561											
KLF12	11278	broad.mit.edu	37	chr13	74419995	74419995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctcccatcctccaaaagCggcacgacaatagtgttgtt	7	14	1	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr13:74419995C>T	uc001vjf.2	-	4	861	c.639G>A	c.(637-639)CCG>CCA	p.P213P	KLF12_uc010aeq.2_Silent_p.P213P|KLF12_uc001vjg.3_Silent_p.P213P	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	213					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		CCTCCAAAAGCGGCACGACAA	0.468													T	74419995	C	T	74419995	2	4	133	1	0	0	0	0	0	0	0	1	8340	755	27	1		1	KLF12	13	74419995	Silent	SNP	C	TCGA-CD-5798-01A-11D-1600-08	37719773	74419995	40749883	72	78562											
POTEG	404785	broad.mit.edu	37	chr14	19553604	19553604	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcaggagcaagatgggcaAgtggtgccgccactgcttcc	13	12	1	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr14:19553604A>G	uc001vuz.1	+	1	240	c.188A>G	c.(187-189)AAG>AGG	p.K63R	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	63										ovary(1)	1						AAGATGGGCAAGTGGTGCCGC	0.602													G	19553604	A	G	19553604	3	3	133	1	0	0	0	0	1	0	0	0	12266	72	3	3	190	3	POTEG	14	19553604	Missense_Mutation	SNP	A	TCGA-CD-5798-01A-11D-1600-08		19553604	87795936	73	78563											
LRFN5	145581	broad.mit.edu	37	chr14	42356791	42356791	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcctgcaattcactggatTtctcctgaagggaagcttat	10	9	2	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr14:42356791T>G	uc001wvm.2	+	3	2161	c.963T>G	c.(961-963)ATT>ATG	p.I321M	LRFN5_uc010ana.2_Missense_Mutation_p.I321M	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	321	Extracellular (Potential).|Ig-like.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTCACTGGATTTCTCCTGAAG	0.453										HNSCC(30;0.082)			G	42356791	T	G	42356791	3	3	133	1	0	0	0	0	1	0	0	0	8941	1829	64	5	965	5	LRFN5	14	42356791	Missense_Mutation	SNP	T	TCGA-CD-5798-01A-11D-1600-08	22803187	42356791	64992749	74	78564											
ATP6V1D	51382	broad.mit.edu	37	chr14	67815774	67815774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctacattatctttcttcGctcgaatcttcacttgcgct	5	13	4	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr14:67815774G>A	uc001xjf.2	-	4	463	c.287C>T	c.(286-288)GCG>GTG	p.A96V	ATP6V1D_uc001xje.2_RNA	NM_015994	NP_057078	Q9Y5K8	VATD_HUMAN	H(+)-transporting two-sector ATPase	96					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)|lung(1)	2				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		ATCTTTCTTCGCTCGAATCTT	0.358													A	67815774	G	A	67815774	3	1	133	1	0	0	0	0	1	0	0	0	1182	1087	38	1	480	1	ATP6V1D	14	67815774	Missense_Mutation	SNP	G	TCGA-CD-5798-01A-11D-1600-08	25458983	67815774	39533766	75	78565											
FLRT2	23768	broad.mit.edu	37	chr14	86088964	86088964	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgacccccggcctgcctcTcttcaccccagccccaagta	6	22	2	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr14:86088964T>G	uc001xvr.2	+	2	1873	c.1106T>G	c.(1105-1107)CTC>CGC	p.L369R	FLRT2_uc010atd.2_Missense_Mutation_p.L369R	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	369	Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GGCCTGCCTCTCTTCACCCCA	0.562													G	86088964	T	G	86088964	3	3	133	1	0	0	0	0	1	0	0	0	5939	1551	54	5	1108	5	FLRT2	14	86088964	Missense_Mutation	SNP	T	TCGA-CD-5798-01A-11D-1600-08	18273190	86088964	21260576	76	78566											
RIN3	79890	broad.mit.edu	37	chr14	93118175	93118175	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggaaattgccctgcacgcCctttgccgcccacctctgat	8	16	1	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr14:93118175C>A	uc001yap.2	+	6	933	c.781C>A	c.(781-783)CCT>ACT	p.P261T	RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Missense_Mutation_p.P186T|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	261	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				CCCTGCACGCCCTTTGCCGCC	0.468													A	93118175	C	A	93118175	3	1	133	1	0	0	0	0	1	0	0	0	13373	623	22	5	803	5	RIN3	14	93118175	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08	7029211	93118175	14231365	77	78567											
TRAF3	7187	broad.mit.edu	37	chr14	103371927	103371927	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgatggatcaggggtcctctCgacgtcatttgggagatgca	14	8	3	2			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr14:103371927C>T	uc001ymc.1	+	12	1866	c.1513C>T	c.(1513-1515)CGA>TGA	p.R505*	TRAF3_uc001yme.1_Nonsense_Mutation_p.R480*|TRAF3_uc001ymd.1_Nonsense_Mutation_p.R505*|TRAF3_uc010txy.1_Nonsense_Mutation_p.R422*	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3 isoform 1	505	MATH.				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		GGGGTCCTCTCGACGTCATTT	0.517													T	103371927	C	T	103371927	4	4	133	1	0	0	0	0	0	1	0	0	16436	876	31	1	1551	1	TRAF3	14	103371927	Nonsense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08	10253752	103371927	3977613	78	78568											
POLG	5428	broad.mit.edu	37	chr15	89872248	89872248	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaccttgtgtttgccctGcttggctgctatccacagac	10	13	0	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr15:89872248G>A	uc002bns.3	-	4	1231	c.949C>T	c.(949-951)CAG>TAG	p.Q317*	POLG_uc002bnr.3_Nonsense_Mutation_p.Q317*	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	317					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TGTTTGCCCTGCTTGGCTGCT	0.592								DNA_polymerases_(catalytic_subunits)					A	89872248	G	A	89872248	4	1	133	1	0	0	0	0	0	1	0	0	12200	1328	46	2	2850	2	POLG	15	89872248	Nonsense_Mutation	SNP	G	TCGA-CD-5798-01A-11D-1600-08		89872248	12659144	79	78569											
TBL3	10607	broad.mit.edu	37	chr16	2028044	2028044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggatcggccccacaccGtgctgactgtcatccagggt	11	16	1	1	rs149719588	by1000genomes	TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr16:2028044G>A	uc002cnu.1	+	19	2146	c.2044G>A	c.(2044-2046)GTG>ATG	p.V682M	TBL3_uc002cnv.1_Missense_Mutation_p.V568M|TBL3_uc010bsb.1_Intron|TBL3_uc010bsc.1_Missense_Mutation_p.V549M|TBL3_uc010uvt.1_Missense_Mutation_p.V151M|TBL3_uc002cnw.1_RNA	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	682					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						GCCCCACACCGTGCTGACTGT	0.677													A	2028044	G	A	2028044	3	1	133	1	0	0	0	0	1	0	0	0	15640	1145	40	1	2118	1	TBL3	16	2028044	Missense_Mutation	SNP	G	TCGA-CD-5798-01A-11D-1600-08		2028044	88326709	80	78570											
ZNF598	90850	broad.mit.edu	37	chr16	2048404	2048404	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcctgccacgcgctcttcttGttcttcttggacttggtgct	10	13	4	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr16:2048404G>C	uc002cof.1	-	14	2559	c.2544C>G	c.(2542-2544)AAC>AAG	p.N848K	ZNF598_uc002coe.1_Missense_Mutation_p.N212K	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	848						intracellular	zinc ion binding			lung(1)|breast(1)	2						CGCTCTTCTTGTTCTTCTTGG	0.657													C	2048404	G	C	2048404	3	2	133	1	0	0	0	0	1	0	0	0	18025	1368	48	5	174	5	ZNF598	16	2048404	Missense_Mutation	SNP	G	TCGA-CD-5798-01A-11D-1600-08	20360	2048404	88306349	81	78571											
ABAT	18	broad.mit.edu	37	chr16	8866677	8866677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatcggaaaaagaagaagaCggtggccgggatcatcgtgg	15	6	1	3			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr16:8866677C>T	uc002czc.3	+	12	1023	c.857C>T	c.(856-858)ACG>ATG	p.T286M	ABAT_uc002czd.3_Missense_Mutation_p.T286M|ABAT_uc010buh.2_Missense_Mutation_p.T228M|ABAT_uc010bui.2_Missense_Mutation_p.T286M	NM_020686	NP_065737	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase precursor	286					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)	AAGAAGAAGACGGTGGCCGGG	0.552													T	8866677	C	T	8866677	3	4	133	1	0	0	0	0	1	0	0	0	27	536	19	1	899	1	ABAT	16	8866677	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08	6818273	8866677	81488076	82	78572											
TNRC6A	27327	broad.mit.edu	37	chr16	24816169	24816169	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaaacttgaattctgttagAcaggtaagtccagatgtgta	9	6	1	3			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr16:24816169A>T	uc002dmm.2	+	13	4095	c.3981A>T	c.(3979-3981)AGA>AGT	p.R1327S	TNRC6A_uc010bxs.2_Missense_Mutation_p.R1074S|TNRC6A_uc002dmn.2_Intron|TNRC6A_uc002dmo.2_Intron|TNRC6A_uc002dmp.2_Intron|TNRC6A_uc002dmq.2_5'UTR	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1327	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		ATTCTGTTAGACAGGTAAGTC	0.403													T	24816169	A	T	24816169	3	4	133	1	0	0	0	0	1	0	0	0	16337	272	10	5	4031	5	TNRC6A	16	24816169	Missense_Mutation	SNP	A	TCGA-CD-5798-01A-11D-1600-08	15949492	24816169	65538584	83	78573											
PSKH1	5681	broad.mit.edu	37	chr16	67943097	67943097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggagctgcgtgtgctgcgtCgggtgcgtcatgccaacatc	15	12	1	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr16:67943097C>T	uc002euv.2	+	2	615	c.445C>T	c.(445-447)CGG>TGG	p.R149W	PSKH1_uc010cet.2_Missense_Mutation_p.R149W	NM_006742	NP_006733	P11801	KPSH1_HUMAN	protein serine kinase H1	149	Protein kinase.					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		TGTGCTGCGTCGGGTGCGTCA	0.607													T	67943097	C	T	67943097	3	4	133	1	0	0	0	0	1	0	0	0	12664	875	31	1	447	1	PSKH1	16	67943097	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08	43126928	67943097	22411656	84	78574											
ATXN7L3	56970	broad.mit.edu	37	chr17	42271971	42271971	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccgtcccactgaagccggCtgatcagggcctggctgtca	13	14	2	2			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr17:42271971C>A	uc002iga.2	-	11	900	c.809G>T	c.(808-810)AGC>ATC	p.S270I	ATXN7L3_uc010wiv.1_Missense_Mutation_p.S52I|ATXN7L3_uc002ifz.2_Missense_Mutation_p.S277I	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3 isoform b	270					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTGAAGCCGGCTGATCAGGGC	0.557													A	42271971	C	A	42271971	3	1	133	1	0	0	0	0	1	0	0	0	1218	797	28	5	242	5	ATXN7L3	17	42271971	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08		42271971	38923239	85	78575											
NPEPPS	9520	broad.mit.edu	37	chr17	45681404	45681408	+	Frame_Shift_Del	DEL	CTCTT	CTCTT	-													gacttggattacagaatgacCtcttctccttggtgagcatc							TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr17:45681403_45681407CCTCTT>C	uc002ilr.4	+	15	2086_2090	c.1863_1867CCTCTT>C	c.(1861-1869)gacctcttcfs	p.D621fs	NPEPPS_uc010wkt.2_Frame_Shift_Del_p.D617fs|NPEPPS_uc010wku.2_Frame_Shift_Del_p.D585fs|NPEPPS_uc010wkv.2_Frame_Shift_Del_p.D175fs|NPEPPS_uc002ils.1_Frame_Shift_Del_p.D54fs	NM_006310	NP_006301	P55786	PSA_HUMAN	Homo sapiens aminopeptidase puromycin sensitive (NPEPPS), mRNA.	621					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TACAGAATGACCTCTTCTCCTTGGT	0.41													-	45681408	CTCTT	-	45681404	7	5	133	1	0	1	0	1	0	0	0	0	10575	681	24	0	1926	0	NPEPPS	17	45681404	Frame_Shift_Del	DEL	CTCTT	TCGA-CD-5798-01A-11D-1600-08	3409433	45681404	35513806	86	78576											
EPB41L3	23136	broad.mit.edu	37	chr18	5398077	5398077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaattctgttggttttcgCgcagactctaataaactgaa	8	7	2	3			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr18:5398077C>T	uc002kmt.1	-	17	2501	c.2415G>A	c.(2413-2415)GCG>GCA	p.A805A	EPB41L3_uc010wzh.1_Silent_p.A636A|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Silent_p.A110A|EPB41L3_uc010wzf.1_Silent_p.A102A|EPB41L3_uc010wzg.1_Silent_p.A77A|EPB41L3_uc010dkr.2_Silent_p.A197A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	805	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						TTGGTTTTCGCGCAGACTCTA	0.448													T	5398077	C	T	5398077	2	4	133	1	0	0	0	0	0	0	0	1	5154	755	27	1		1	EPB41L3	18	5398077	Silent	SNP	C	TCGA-CD-5798-01A-11D-1600-08		5398077	72679171	87	78577											
EPB41L3	23136	broad.mit.edu	37	chr18	5424307	5424307	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactttccataaacgcttggCagctcgatggtttggcagct	10	10	0	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr18:5424307C>A	uc002kmt.1	-	10	1203	c.1117G>T	c.(1117-1119)GCC>TCC	p.A373S	EPB41L3_uc010wzh.1_Missense_Mutation_p.A373S|EPB41L3_uc002kmu.1_Missense_Mutation_p.A373S|EPB41L3_uc010dkq.1_Missense_Mutation_p.A264S|EPB41L3_uc010dkr.2_5'Flank	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	373	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						AAACGCTTGGCAGCTCGATGG	0.294													A	5424307	C	A	5424307	3	1	133	1	0	0	0	0	1	0	0	0	5154	710	25	5	2198	5	EPB41L3	18	5424307	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08	26230	5424307	72652941	88	78578											
MEF2B	100271849	broad.mit.edu	37	chr19	19260200	19260202	+	In_Frame_Del	DEL	CTT	CTT	-													agcacgctcagctcataggcCttcttcatcagcccgaactt							TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr19:19260199_19260201CCTT>C	uc002nlp.2	-	4	819_821	c.92_94AAGG>G	c.(91-96)aaggcc>aGcc	p.31_32KA>S	MEF2B_uc002nll.2_In_Frame_Del_p.31_32KA>S|MEF2B_uc010xqo.1_In_Frame_Del_p.31_32KA>S|MEF2B_uc010xqp.1_In_Frame_Del_p.31_32KA>S|MEF2B_uc002nlo.2_In_Frame_Del_p.31_32KA>S|MEF2B_uc002nlk.2_In_Frame_Del_p.31_32KA>S	NM_005919	NP_005910			Homo sapiens MEF2BNB-MEF2B readthrough (MEF2BNB-MEF2B), transcript variant 1, mRNA.											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			AGCTCATAGGCCTTCTTCATCAG	0.567													-	19260202	CTT	-	19260200	7	5	133	1	0	1	0	1	0	0	0	0	9456	680	24	0	1041	0	MEF2B	19	19260200	In_Frame_Del	DEL	CTT	TCGA-CD-5798-01A-11D-1600-08		19260200	39868783	89	78579											
ZNF345	25850	broad.mit.edu	37	chr19	37367987	37367987	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgacatcagcgaattcatacTggtgagaaaccttatgaatg	9	8	2	2			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr19:37367987T>A	uc002oex.2	+	3	633	c.255T>A	c.(253-255)ACT>ACA	p.T85T	ZNF345_uc002oey.3_Silent_p.T85T|ZNF345_uc002oez.2_Intron	NM_003419	NP_003410	Q14585	ZN345_HUMAN	zinc finger protein 345	85					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAATTCATACTGGTGAGAAAC	0.398													A	37367987	T	A	37367987	2	1	133	1	0	0	0	0	0	0	0	1	17856	1567	55	5		5	ZNF345	19	37367987	Silent	SNP	T	TCGA-CD-5798-01A-11D-1600-08	18107787	37367987	21760996	90	78580											
ZNF585A	199704	broad.mit.edu	37	chr19	37643342	37643342	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatttctctcctgtatgagTtttctgatgtgtaatgagat	9	5	2	4			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr19:37643342T>G	uc002ofo.1	-	5	1690	c.1459A>C	c.(1459-1461)ACT>CCT	p.T487P	ZNF585A_uc002ofm.1_Missense_Mutation_p.T432P|ZNF585A_uc002ofn.1_Missense_Mutation_p.T432P	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	487	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTGTATGAGTTTTCTGATGT	0.408													G	37643342	T	G	37643342	3	3	133	1	0	0	0	0	1	0	0	0	18014	1725	60	5	854	5	ZNF585A	19	37643342	Missense_Mutation	SNP	T	TCGA-CD-5798-01A-11D-1600-08	275355	37643342	21485641	91	78581											
EGLN2	112398	broad.mit.edu	37	chr19	41313417	41313417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactgtctggtattttgatGccaaggagcgggcagcagcc	13	10	2	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr19:41313417G>A	uc010ehd.2	+	11	2130	c.1129G>A	c.(1129-1131)GCC>ACC	p.A377T	EGLN2_uc002opg.3_Missense_Mutation_p.A377T|EGLN2_uc002oph.2_Missense_Mutation_p.A377T|EGLN2_uc002opi.2_Missense_Mutation_p.A377T	NM_080732	NP_542770	Q96KS0	EGLN2_HUMAN	EGL nine (C.elegans) homolog 2	377					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GTATTTTGATGCCAAGGAGCG	0.537											OREG0025478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	41313417	G	A	41313417	3	1	133	1	0	0	0	0	1	0	0	0	4969	1319	46	2	1143	2	EGLN2	19	41313417	Missense_Mutation	SNP	G	TCGA-CD-5798-01A-11D-1600-08	3670075	41313417	17815566	92	78582											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596469	58596469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtccccatcctcggggtgCggcctcttggttcccagttt	11	16	1	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr19:58596469C>T	uc002qri.2	-	7	1425	c.1116G>A	c.(1114-1116)CCG>CCA	p.P372P	ZSCAN18_uc002qrj.3_Silent_p.P371P|ZSCAN18_uc010yhs.1_Silent_p.P236P|ZSCAN18_uc002qrh.2_Silent_p.P372P|ZSCAN18_uc010yht.1_Silent_p.P428P|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	372					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCTCGGGGTGCGGCCTCTTGG	0.721													T	58596469	C	T	58596469	2	4	133	1	0	0	0	0	0	0	0	1	18227	755	27	1		1	ZSCAN18	19	58596469	Silent	SNP	C	TCGA-CD-5798-01A-11D-1600-08	17283052	58596469	532514	93	78583											
GHRH	2691	broad.mit.edu	37	chr20	35884866	35884866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccagcaccttccggtagCtgttggtgaagatggcatct	13	11	1	2			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chr20:35884866C>T	uc002xgr.2	-	2	119	c.119G>A	c.(118-120)AGC>AAC	p.S40N	GHRH_uc002xgs.2_Missense_Mutation_p.S40N|GHRH_uc002xgt.2_Missense_Mutation_p.S40N	NM_021081	NP_066567	P01286	SLIB_HUMAN	growth hormone releasing hormone preproprotein	40					activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food	extracellular space|terminal button	growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding			ovary(1)	1		Myeloproliferative disorder(115;0.00878)				CTTCCGGTAGCTGTTGGTGAA	0.622													T	35884866	C	T	35884866	3	4	133	1	0	0	0	0	1	0	0	0	6372	797	28	2	219	2	GHRH	20	35884866	Missense_Mutation	SNP	C	TCGA-CD-5798-01A-11D-1600-08		35884866	27140654	94	78584											
RBBP7	5931	broad.mit.edu	37	chrX	16870931	16870931	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggattgaatgagaggcagtTgacttcggcagtgtgcgcat	16	6	0	3			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chrX:16870931T>G	uc004cxt.2	-	7	1184	c.826A>C	c.(826-828)AAC>CAC	p.N276H	RBBP7_uc004cxs.1_Missense_Mutation_p.N320H|RBBP7_uc004cxu.2_Missense_Mutation_p.N267H|RBBP7_uc010nez.2_3'UTR	NM_002893	NP_002884	Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	276	WD 5.				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	p.N276S(1)		upper_aerodigestive_tract(1)|ovary(1)	2	Hepatocellular(33;0.0997)					GAGAGGCAGTTGACTTCGGCA	0.483													G	16870931	T	G	16870931	3	3	133	1	0	0	0	0	1	0	0	0	13104	1812	63	5	475	5	RBBP7	23	16870931	Missense_Mutation	SNP	T	TCGA-CD-5798-01A-11D-1600-08		16870931	138399629	95	78585											
ITIH5L	347365	broad.mit.edu	37	chrX	54785304	54785304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggggtcgtcacgccggcCgtgggctccccatccgtcag	15	16	2	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chrX:54785304C>T	uc004dtj.2	-	8	1233	c.1203G>A	c.(1201-1203)ACG>ACA	p.T401T		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	401	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						TCACGCCGGCCGTGGGCTCCC	0.607													T	54785304	C	T	54785304	2	4	133	1	0	0	0	0	0	0	0	1	7908	639	23	1		1	ITIH5L	23	54785304	Silent	SNP	C	TCGA-CD-5798-01A-11D-1600-08	37914373	54785304	100485256	96	78586											
ERCC6L	54821	broad.mit.edu	37	chrX	71426048	71426049	+	Frame_Shift_Del	DEL	GT	GT	-													ttccagaggatcctcttgcaGtgcctcttgcttaggcccct							TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chrX:71426047_71426048AGT>A	uc004eaq.1	-	1	2666_2667	c.2569_2570ACT>T	c.(2569-2571)ctgfs	p.L857fs	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Frame_Shift_Del_p.L734fs	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	857					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ATCCTCTTGCAGTGCCTCTTGC	0.361													-	71426049	GT	-	71426048	7	5	133	1	0	1	0	1	0	0	0	0	5218	1020	36	0	1187	0	ERCC6L	23	71426048	Frame_Shift_Del	DEL	GT	TCGA-CD-5798-01A-11D-1600-08	16640744	71426048	83844512	97	78587											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685736	125685736	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccggctttccacaggtggaAgtagccgtccaaggacaccg	12	14	0	0			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chrX:125685736A>C	uc004eul.2	-	1	1107	c.856T>G	c.(856-858)TTC>GTC	p.F286V		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	286	WD 3.									skin(3)|ovary(1)	4						CACAGGTGGAAGTAGCCGTCC	0.607													C	125685736	A	C	125685736	3	2	133	1	0	0	0	0	1	0	0	0	4264	72	3	5	539	5	DCAF12L1	23	125685736	Missense_Mutation	SNP	A	TCGA-CD-5798-01A-11D-1600-08	54259688	125685736	29584824	98	78588											
CDR1	1038	broad.mit.edu	37	chrX	139865818	139865818	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagtgtcttccagaaagaAatccaggtcttccagtcagt	8	10	4	2			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chrX:139865818A>C	uc004fbg.1	-	1	906	c.714T>G	c.(712-714)ATT>ATG	p.I238M	uc004fbf.1_RNA	NM_004065	NP_004056	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1,	238											0	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCAGAAAGAAATCCAGGTCT	0.423													C	139865818	A	C	139865818	3	2	133	1	0	0	0	0	1	0	0	0	3171	10	1	5	78	5	CDR1	23	139865818	Missense_Mutation	SNP	A	TCGA-CD-5798-01A-11D-1600-08	14180082	139865818	15404742	99	78589											
IRAK1	3654	broad.mit.edu	37	chrX	153284492	153284492	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagggcttgggaccaggccGagctcaggccctgaatgggt	17	11	1	1			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ea9a63-bf9e-42a8-bb3d-77580f4ba745	66b0705b-4698-4bae-a0a4-90724d7a16f1	g.chrX:153284492G>A	uc004fjs.1	-	4	553	c.474C>T	c.(472-474)CTC>CTT	p.L158L	IRAK1_uc004fjr.1_Silent_p.L158L|IRAK1_uc004fjt.1_Silent_p.L158L|IRAK1_uc010nur.2_Silent_p.L158L|IRAK1_uc004fju.2_Silent_p.L184L	NM_001569	NP_001560	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	158	ProST region.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGACCAGGCCGAGCTCAGGCC	0.622													A	153284492	G	A	153284492	2	1	133	1	0	0	0	0	0	0	0	1	7821	1045	37	1		1	IRAK1	23	153284492	Silent	SNP	G	TCGA-CD-5798-01A-11D-1600-08	13418674	153284492	1986068	100	78590											
CROCC	9696	broad.mit.edu	37	chr1	17280823	17280823	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agatggagcggcagaaacgaGatgcccagagccggcaggag	17	9	0	4			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr1:17280823G>C	uc001azt.2	+	22	3361	c.3292G>C	c.(3292-3294)GAT>CAT	p.D1098H	CROCC_uc009voz.1_Missense_Mutation_p.D697H|CROCC_uc001azu.2_Missense_Mutation_p.D401H	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	1098	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCAGAAACGAGATGCCCAGAG	0.632													C	17280823	G	C	17280823	3	2	134	1	0	0	0	0	1	0	0	0	3893	942	33	5	3378	5	CROCC	1	17280823	Missense_Mutation	SNP	G	TCGA-CD-5799-01A-11D-1600-08		17280823	231969798	1	78591											
OR6N1	128372	broad.mit.edu	37	chr1	158735615	158735615	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcaagctgtagatgaagggGttgaggaagggtgtgagcac	18	5	0	4			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr1:158735615G>T	uc010piq.1	-	1	858	c.858C>A	c.(856-858)AAC>AAA	p.N286K		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					AGATGAAGGGGTTGAGGAAGG	0.527													T	158735615	G	T	158735615	3	4	134	1	0	0	0	0	1	0	0	0	11206	1252	44	5	83	5	OR6N1	1	158735615	Missense_Mutation	SNP	G	TCGA-CD-5799-01A-11D-1600-08	141454792	158735615	90515006	2	78592											
PIGM	93183	broad.mit.edu	37	chr1	160001391	160001391	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggtagtcgatgtccgtatAcctcacgtgcagggtccggt	13	11	1	0			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr1:160001391A>G	uc001fuv.1	-	1	393	c.139T>C	c.(139-141)TAT>CAT	p.Y47H		NM_145167	NP_660150	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	47	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGTCCGTATACCTCACGTGC	0.622													G	160001391	A	G	160001391	3	3	134	1	0	0	0	0	1	0	0	0	11892	391	14	3	1136	3	PIGM	1	160001391	Missense_Mutation	SNP	A	TCGA-CD-5799-01A-11D-1600-08	1265776	160001391	89249230	3	78593											
WDR33	55339	broad.mit.edu	37	chr2	128477550	128477550	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtcccaaagggccatgAggtccaggatgcctctgcat	13	11	1	2			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr2:128477550A>G	uc002tpg.1	-	16	2232	c.2049T>C	c.(2047-2049)CCT>CCC	p.P683P		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	683	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AAGGGCCATGAGGTCCAGGAT	0.632													G	128477550	A	G	128477550	2	3	134	1	0	0	0	0	0	0	0	1	17284	291	11	3		3	WDR33	2	128477550	Silent	SNP	A	TCGA-CD-5799-01A-11D-1600-08		128477550	114721823	4	78594											
CCDC141	285025	broad.mit.edu	37	chr2	179736940	179736940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttaagctgccatgccagccGaaggaggctaagttcttccc	10	12	1	0	rs146458136		TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr2:179736940G>A	uc002unf.1	-	3	331	c.274C>T	c.(274-276)CGG>TGG	p.R92W		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	92	Potential.						protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CATGCCAGCCGAAGGAGGCTA	0.468													A	179736940	G	A	179736940	3	1	134	1	0	0	0	0	1	0	0	0	2775	1057	37	1	2397	1	CCDC141	2	179736940	Missense_Mutation	SNP	G	TCGA-CD-5799-01A-11D-1600-08	51259390	179736940	63462433	5	78595											
DUSP19	142679	broad.mit.edu	37	chr2	183948285	183948286	+	Splice_Site	INS	-	-	A													cactgaaaaagaataaggtaINSaaaaaatgctttaagtctgg							TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr2:183948284_183948285T>TA	uc002upd.3	+	2	648	c.273_splice	c.e2+2	p.K91_splice	DUSP19_uc010frp.3_Splice_Site_p.K91_splice|DUSP19_uc010zfr.2_Intron|DUSP19_uc002upe.3_Splice_Site_p.K91_splice	NM_080876	NP_543152	Q8WTR2	DUS19_HUMAN	Homo sapiens dual specificity phosphatase 19 (DUSP19), transcript variant 1, mRNA.	91					JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						AAGAATAAGGTAAAAAAATGCT	0.302													A	183948286	-	A	183948285	8	5	134	1	0	1	1	0	0	0	1	0	4818	377	13	0		0	DUSP19	2	183948285	Splice_Site	INS	-	TCGA-CD-5799-01A-11D-1600-08	4211345	183948285	59251088	6	78596											
CTLA4	1493	broad.mit.edu	37	chr2	204735471	204735471	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcggcaacctacatgaTggggaatgagttgaccttcc	12	10	0	3	rs1065442		TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr2:204735471T>C	uc002vak.1	+	2	429	c.272T>C	c.(271-273)ATG>ACG	p.M91T	CTLA4_uc002val.1_Missense_Mutation_p.M91T|CTLA4_uc010fty.1_Intron|CTLA4_uc010ftz.1_Intron	NM_005214	NP_005205	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	91	Ig-like V-type.|Extracellular (Potential).				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm					0					Abatacept(DB01281)	ACCTACATGATGGGGAATGAG	0.547													C	204735471	T	C	204735471	3	2	134	1	0	0	0	0	1	0	0	0	4011	1464	51	3	278	3	CTLA4	2	204735471	Missense_Mutation	SNP	T	TCGA-CD-5799-01A-11D-1600-08	20787186	204735471	38463902	7	78597											
SLC16A14	151473	broad.mit.edu	37	chr2	230902153	230902153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttctataattcgaatgcaCggctgaataagtaaaaagag	9	5	1	2	rs111580291		TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr2:230902153C>T	uc002vqd.1	-	5	1839	c.1476G>A	c.(1474-1476)CCG>CCA	p.P492P	FBXO36_uc010fxi.1_Intron	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	492	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TTCGAATGCACGGCTGAATAA	0.328													T	230902153	C	T	230902153	2	4	134	1	0	0	0	0	0	0	0	1	14407	523	19	1		1	SLC16A14	2	230902153	Silent	SNP	C	TCGA-CD-5799-01A-11D-1600-08	26166682	230902153	12297220	8	78598											
CAND2	23066	broad.mit.edu	37	chr3	12858630	12858630	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctctttggtggaggtcagTggccctgtgctctcagagct	14	11	3	1			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr3:12858630T>C	uc003bxk.2	+	10	2248	c.2199T>C	c.(2197-2199)AGT>AGC	p.S733S	CAND2_uc003bxj.2_Silent_p.S640S	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	733	HEAT 16.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						TGGAGGTCAGTGGCCCTGTGC	0.652													C	12858630	T	C	12858630	2	2	134	1	0	0	0	0	0	0	0	1	2616	1693	59	3		3	CAND2	3	12858630	Silent	SNP	T	TCGA-CD-5799-01A-11D-1600-08		12858630	185163800	9	78599											
ITIH3	3699	broad.mit.edu	37	chr3	52837878	52837878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctcctcacagcaagaacGcccatggcgaggagaaggag	12	14	1	2			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr3:52837878G>A	uc003dfv.2	+	14	1753	c.1717G>A	c.(1717-1719)GCC>ACC	p.A573T	ITIH3_uc011bek.1_Intron	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	573					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CAGCAAGAACGCCCATGGCGA	0.627													A	52837878	G	A	52837878	3	1	134	1	0	0	0	0	1	0	0	0	7905	1087	38	1	1771	1	ITIH3	3	52837878	Missense_Mutation	SNP	G	TCGA-CD-5799-01A-11D-1600-08	39979248	52837878	145184552	10	78600											
PLXNA1	5361	broad.mit.edu	37	chr3	126724992	126724992	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtttgcgtctgtggacttCgtcttctacaactgcagcgt	10	10	3	0			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr3:126724992C>T	uc003ejg.2	+	7	1903	c.1899C>T	c.(1897-1899)TTC>TTT	p.F633F		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	656	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CTGTGGACTTCGTCTTCTACA	0.607													T	126724992	C	T	126724992	2	4	134	1	0	0	0	0	0	0	0	1	12119	883	31	1		1	PLXNA1	3	126724992	Silent	SNP	C	TCGA-CD-5799-01A-11D-1600-08	73887114	126724992	71297438	11	78601											
GHSR	2693	broad.mit.edu	37	chr3	172165804	172165804	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcgacgctcagcgctgtgaTggtgagcaccgtggcgtagg	16	11	1	2			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr3:172165804T>A	uc003fib.1	-	1	400	c.400A>T	c.(400-402)ATC>TTC	p.I134F	GHSR_uc011bpv.1_Missense_Mutation_p.I134F	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	134	Helical; Name=3; (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			lung(3)|ovary(1)|central_nervous_system(1)	5	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AGCGCTGTGATGGTGAGCACC	0.612													A	172165804	T	A	172165804	3	1	134	1	0	0	0	0	1	0	0	0	6375	1464	51	5	782	5	GHSR	3	172165804	Missense_Mutation	SNP	T	TCGA-CD-5799-01A-11D-1600-08	45440812	172165804	25856626	12	78602											
PSMD2	5708	broad.mit.edu	37	chr3	184024196	184024196	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atttgtagcgaacactttgaCtccaaagagaaggaggaaga	11	6	0	3			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr3:184024196C>G	uc003fnn.1	+	15	1896	c.1863C>G	c.(1861-1863)GAC>GAG	p.D621E	PSMD2_uc011brj.1_Missense_Mutation_p.D462E|PSMD2_uc011brk.1_Missense_Mutation_p.D491E	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	621					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	AACACTTTGACTCCaaagaga	0.383													G	184024196	C	G	184024196	3	3	134	1	0	0	0	0	1	0	0	0	12698	564	20	5	1921	5	PSMD2	3	184024196	Missense_Mutation	SNP	C	TCGA-CD-5799-01A-11D-1600-08	11858392	184024196	13998234	13	78603											
MAST4	375449	broad.mit.edu	37	chr5	66429354	66429354	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcatagcttgttggttacCtccatggggcacataaagct	9	11	1	0			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr5:66429354C>T	uc003jut.1	+	16	1607	c.1539C>T	c.(1537-1539)ACC>ACT	p.T513T	MAST4_uc003juu.1_Silent_p.T523T|MAST4_uc011cra.1_Silent_p.T496T|MAST4_uc003juv.2_Silent_p.T508T|MAST4_uc003juw.2_Silent_p.T508T	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	705	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TGTTGGTTACCTCCATGGGGC	0.418													T	66429354	C	T	66429354	2	4	134	1	0	0	0	0	0	0	0	1	9327	668	24	4		4	MAST4	5	66429354	Silent	SNP	C	TCGA-CD-5799-01A-11D-1600-08		66429354	114485906	14	78604											
PCDHA11	56138	broad.mit.edu	37	chr5	140249981	140249981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcgcgggatgggggttcGccttctctgtgggccacggc	17	12	1	0			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr5:140249981G>A	uc003lia.2	+	1	2151	c.1293G>A	c.(1291-1293)TCG>TCA	p.S431S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.S431S	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	431	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGGGGTTCGCCTTCTCTGT	0.622													A	140249981	G	A	140249981	2	1	134	1	0	0	0	0	0	0	0	1	11521	1074	38	1		1	PCDHA11	5	140249981	Silent	SNP	G	TCGA-CD-5799-01A-11D-1600-08	73820627	140249981	40665279	15	78605											
PCDHA11	56138	broad.mit.edu	37	chr5	140250857	140250857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatacggcgctgtggtggtcGgcaacgcccactgagggcgc	16	12	0	1			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr5:140250857G>A	uc003lia.2	+	1	3027	c.2169G>A	c.(2167-2169)TCG>TCA	p.S723S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.S723S	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	723	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGTGGTCGGCAACGCCCA	0.672													A	140250857	G	A	140250857	2	1	134	1	0	0	0	0	0	0	0	1	11521	1103	39	1		1	PCDHA11	5	140250857	Silent	SNP	G	TCGA-CD-5799-01A-11D-1600-08	876	140250857	40664403	16	78606											
MXD3	83463	broad.mit.edu	37	chr5	176734800	176734800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttggtctgagtctgagcGctcagaggagaggcctgagg	16	9	3	5			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr5:176734800G>A	uc003mgb.2	-	5	948	c.487C>T	c.(487-489)CGC>TGC	p.R163C	MXD3_uc010jkk.2_Missense_Mutation_p.R163C|MXD3_uc003mga.3_Missense_Mutation_p.R163C|MXD3_uc003mgc.2_Missense_Mutation_p.R153C	NM_031300	NP_112590	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3 isoform a	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGTCTGAGCGCTCAGAGGAG	0.721													A	176734800	G	A	176734800	3	1	134	1	0	0	0	0	1	0	0	0	10000	1087	38	1	222	1	MXD3	5	176734800	Missense_Mutation	SNP	G	TCGA-CD-5799-01A-11D-1600-08	36483943	176734800	4180460	17	78607											
MBOAT1	154141	broad.mit.edu	37	chr6	20113188	20113188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccatgccacaaagcagaCaggatgaaggttagcaccgt	10	11	0	2			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr6:20113188C>T	uc003ncx.1	-	11	1333	c.1128G>A	c.(1126-1128)CTG>CTA	p.L376L	MBOAT1_uc011dji.1_Silent_p.L227L	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain	376	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			ACAAAGCAGACAGGATGAAGG	0.468													T	20113188	C	T	20113188	2	4	134	1	0	0	0	0	0	0	0	1	9356	465	17	4		4	MBOAT1	6	20113188	Silent	SNP	C	TCGA-CD-5799-01A-11D-1600-08		20113188	151001879	18	78608											
OPN5	221391	broad.mit.edu	37	chr6	47776100	47776100	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaaactggtggtttgaaaGcaaccaagaagaagtctctg	11	8	1	3			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr6:47776100G>T	uc003ozc.2	+	5	972	c.967G>T	c.(967-969)GCA>TCA	p.A323S	OPN5_uc003ozd.2_Missense_Mutation_p.A158S	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	opsin 5 isoform 1	323	Cytoplasmic (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			ovary(1)	1						TGGTTTGAAAGCAACCAAGAA	0.418													T	47776100	G	T	47776100	3	4	134	1	0	0	0	0	1	0	0	0	10883	971	34	5	985	5	OPN5	6	47776100	Missense_Mutation	SNP	G	TCGA-CD-5799-01A-11D-1600-08	27662912	47776100	123338967	19	78609											
WRN	7486	broad.mit.edu	37	chr8	31014945	31014945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcatgcacttatcccaagCggtgaaagctggctgccccc	11	14	0	1	rs146861737		TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr8:31014945C>T	uc003xio.3	+	33	4669	c.3881C>T	c.(3880-3882)GCG>GTG	p.A1294V	WRN_uc010lvk.2_Missense_Mutation_p.A761V	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	1294					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTATCCCAAGCGGTGAAAGCT	0.488			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				T	31014945	C	T	31014945	3	4	134	1	0	0	0	0	1	0	0	0	17399	768	27	1	4007	1	WRN	8	31014945	Missense_Mutation	SNP	C	TCGA-CD-5799-01A-11D-1600-08		31014945	115349077	20	78610											
CDKN2A	1029	broad.mit.edu	37	chr9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctcccgggcagcgtcgtGcacgggtcgggtgagagtgg	19	12	0	1	rs121913385		TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr9:21971111G>A	uc003zpk.2	-	2	459	c.247C>T	c.(247-249)CAC>TAC	p.H83Y	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.A138V	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	83	ANK 3.		H -> N (in a lung tumor).|H -> Y (in a pancreas and a head and neck tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.H83Y(28)|p.?(13)|p.H83fs*2(2)|p.H83P(2)|p.H83N(1)|p.V82fs*62(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.A138V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.H83R(1)|p.H83Q(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(JHH2_LIVER)|H83Y(HS944T_SKIN)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			A	21971111	G	A	21971111	3	1	134	1	0	0	0	0	1	0	0	0	3161	1319	46	2	231	2	CDKN2A	9	21971111	Missense_Mutation	SNP	G	TCGA-CD-5799-01A-11D-1600-08		21971111	119242320	21	78611											
LINGO2	158038	broad.mit.edu	37	chr9	27949698	27949698	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgagacacattgagcacGcgtaggaagcggagcccttg	13	10	1	2	rs138682295		TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr9:27949698G>A	uc003zqu.1	-	2	1166	c.972C>T	c.(970-972)CGC>CGT	p.R324R	LINGO2_uc010mjf.1_Silent_p.R324R|LINGO2_uc003zqv.1_Silent_p.R324R	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	324	Extracellular (Potential).|LRR 12.					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CATTGAGCACGCGTAGGAAGC	0.542													A	27949698	G	A	27949698	2	1	134	1	0	0	0	0	0	0	0	1	8815	1074	38	1		1	LINGO2	9	27949698	Silent	SNP	G	TCGA-CD-5799-01A-11D-1600-08	5978587	27949698	113263733	22	78612											
NOL8	55035	broad.mit.edu	37	chr9	95073453	95073453	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccattcctctcctggatggCtctgctcctgagtcgatgtc	9	15	2	1			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr9:95073453C>G	uc004arv.2	-	8	2784	c.2447G>C	c.(2446-2448)AGC>ACC	p.S816T	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Missense_Mutation_p.S48T|NOL8_uc011ltw.1_Missense_Mutation_p.S748T	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	816					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						TCCTGGATGGCTCTGCTCCTG	0.488													G	95073453	C	G	95073453	3	3	134	1	0	0	0	0	1	0	0	0	10527	797	28	5	1096	5	NOL8	9	95073453	Missense_Mutation	SNP	C	TCGA-CD-5799-01A-11D-1600-08	67123755	95073453	46139978	23	78613											
OR1J4	26219	broad.mit.edu	37	chr9	125281714	125281714	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctttatgcagggtgtgtaActcagatgtattttttcata	8	5	3	1			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr9:125281714A>C	uc011lyw.1	+	1	295	c.295A>C	c.(295-297)ACT>CCT	p.T99P		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J,	99	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGGGTGTGTAACTCAGATGTA	0.423													C	125281714	A	C	125281714	3	2	134	1	0	0	0	0	1	0	0	0	10961	43	2	5	297	5	OR1J4	9	125281714	Missense_Mutation	SNP	A	TCGA-CD-5799-01A-11D-1600-08	30208261	125281714	15931717	24	78614											
KNDC1	85442	broad.mit.edu	37	chr10	135000076	135000076	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaggggccagcagaggcCcctgcagaccctcgagatgc	14	15	0	3			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr10:135000076C>T	uc001llz.1	+	6	1225	c.1224C>T	c.(1222-1224)GCC>GCT	p.A408A	KNDC1_uc001lma.1_Silent_p.A343A	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	408					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAGCAGAGGCCCCTGCAGACC	0.672													T	135000076	C	T	135000076	2	4	134	1	0	0	0	0	0	0	0	1	8426	610	22	4		4	KNDC1	10	135000076	Silent	SNP	C	TCGA-CD-5799-01A-11D-1600-08		135000076	534671	25	78615											
OR52N4	390072	broad.mit.edu	37	chr11	5776432	5776432	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgccaccttcctgagaggGgtattactcattattccctt	7	12	1	1			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr11:5776432G>A	uc001mbu.2	+	1	510	c.462G>A	c.(460-462)GGG>GGA	p.G154G	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TCCTGAGAGGGGTATTACTCA	0.493													A	5776432	G	A	5776432	2	1	134	1	0	0	0	0	0	0	0	1	11129	1219	43	4		4	OR52N4	11	5776432	Silent	SNP	G	TCGA-CD-5799-01A-11D-1600-08		5776432	129230084	26	78616											
CCDC34	91057	broad.mit.edu	37	chr11	27360462	27360462	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtggctgacttatcacaGgtcttttactcttccttcct	7	11	3	1			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr11:27360462G>T	uc001mrh.1	-	6	1082	c.1028C>A	c.(1027-1029)CCT>CAT	p.P343H		NM_030771	NP_110398	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34 isoform 1	343											0						ACTTATCACAGGTCTTTTACT	0.418													T	27360462	G	T	27360462	3	4	134	1	0	0	0	0	1	0	0	0	2807	1000	35	5	97	5	CCDC34	11	27360462	Missense_Mutation	SNP	G	TCGA-CD-5799-01A-11D-1600-08	21584030	27360462	107646054	27	78617											
PICALM	8301	broad.mit.edu	37	chr11	85714475	85714475	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaaatgttgttccaaagcaTcaagaagactgctaggggcc	10	9	1	2			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr11:85714475T>C	uc001pbm.2	-	9	1113	c.827A>G	c.(826-828)GAT>GGT	p.D276G	PICALM_uc001pbl.2_Missense_Mutation_p.D276G|PICALM_uc001pbn.2_Missense_Mutation_p.D276G|PICALM_uc010rtl.1_Missense_Mutation_p.D225G|PICALM_uc010rtk.1_5'UTR|PICALM_uc001pbo.1_5'UTR	NM_007166	NP_009097	Q13492	PICAL_HUMAN	phosphatidylinositol-binding clathrin assembly	276					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			urinary_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TTCCAAAGCATCAAGAAGACT	0.368			T	MLLT10|MLL	TALL|AML|								C	85714475	T	C	85714475	3	2	134	1	0	0	0	0	1	0	0	0	11880	1435	50	3	1207	3	PICALM	11	85714475	Missense_Mutation	SNP	T	TCGA-CD-5799-01A-11D-1600-08	58354013	85714475	49292041	28	78618											
KSR2	283455	broad.mit.edu	37	chr12	118198881	118198881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggatttgctccgatgcagCgcggtgaatcccgggatcaa	14	10	1	1			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr12:118198881C>T	uc001two.2	-	4	889	c.834G>A	c.(832-834)GCG>GCA	p.A278A		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	307					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCGATGCAGCGCGGTGAATC	0.662													T	118198881	C	T	118198881	2	4	134	1	0	0	0	0	0	0	0	1	8582	755	27	1		1	KSR2	12	118198881	Silent	SNP	C	TCGA-CD-5799-01A-11D-1600-08		118198881	15653014	29	78619											
TUBGCP3	10426	broad.mit.edu	37	chr13	113176722	113176722	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgtggtccagcaagctgtActttttattgagaacatcca	8	9	0	1			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr13:113176722A>G	uc001vse.1	-	14	1844	c.1657T>C	c.(1657-1659)TAC>CAC	p.Y553H	TUBGCP3_uc010tjq.1_Missense_Mutation_p.Y543H|TUBGCP3_uc001vsf.2_Missense_Mutation_p.Y553H	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	553					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					AGCAAGCTGTACTTTTTATTG	0.428													G	113176722	A	G	113176722	3	3	134	1	0	0	0	0	1	0	0	0	16764	391	14	3	1102	3	TUBGCP3	13	113176722	Missense_Mutation	SNP	A	TCGA-CD-5799-01A-11D-1600-08		113176722	1993156	30	78620											
MCF2L	23263	broad.mit.edu	37	chr13	113742712	113742712	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccagccagctgcaggcTtgtagaggtgaggctgtctt	14	10	1	3			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr13:113742712T>C	uc001vsu.2	+	24	2953	c.2931T>C	c.(2929-2931)GCT>GCC	p.A977A	MCF2L_uc001vsq.2_Silent_p.A977A|MCF2L_uc010tjr.1_Silent_p.A920A|MCF2L_uc001vsr.2_Silent_p.A924A|MCF2L_uc001vss.3_Silent_p.A918A|MCF2L_uc010tjs.1_Silent_p.A918A	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	950					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGCTGCAGGCTTGTAGAGGTG	0.547													C	113742712	T	C	113742712	2	2	134	1	0	0	0	0	0	0	0	1	9379	1596	56	3		3	MCF2L	13	113742712	Silent	SNP	T	TCGA-CD-5799-01A-11D-1600-08	565990	113742712	1427166	31	78621											
GABRB3	2562	broad.mit.edu	37	chr15	26866506	26866506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtgaagacggatcatgCggtttttcactgtcactcca	11	10	3	2			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr15:26866506C>T	uc001zaz.2	-	4	558	c.416G>A	c.(415-417)CGC>CAC	p.R139H	GABRB3_uc010uae.1_Missense_Mutation_p.R54H|GABRB3_uc001zba.2_Missense_Mutation_p.R139H|GABRB3_uc001zbb.2_Missense_Mutation_p.R195H|GABRB3_uc001zbc.2_RNA	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	139	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACGGATCATGCGGTTTTTCAC	0.488													T	26866506	C	T	26866506	3	4	134	1	0	0	0	0	1	0	0	0	6168	768	27	1	1029	1	GABRB3	15	26866506	Missense_Mutation	SNP	C	TCGA-CD-5799-01A-11D-1600-08		26866506	75664886	32	78622											
OTUD7A	161725	broad.mit.edu	37	chr15	31818561	31818561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcacttaccccccgcccGtgccgccattcttgctgaag	9	18	1	1			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr15:31818561G>A	uc001zfq.2	-	6	956	c.863C>T	c.(862-864)ACG>ATG	p.T288M	OTUD7A_uc001zfr.2_Missense_Mutation_p.T295M	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	288	OTU.|Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CCCCCCGCCCGTGCCGCCATT	0.672													A	31818561	G	A	31818561	3	1	134	1	0	0	0	0	1	0	0	0	11318	1145	40	1	1941	1	OTUD7A	15	31818561	Missense_Mutation	SNP	G	TCGA-CD-5799-01A-11D-1600-08	4952055	31818561	70712831	33	78623											
TTBK2	146057	broad.mit.edu	37	chr15	43102862	43102862	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagagatatggtctagaaAgatgctgaattctggaggga	14	3	2	5			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr15:43102862A>G	uc001zqo.2	-	9	1211	c.772T>C	c.(772-774)TTT>CTT	p.F258L	TTBK2_uc010bcy.2_Missense_Mutation_p.F189L|TTBK2_uc001zqp.2_Missense_Mutation_p.F258L|TTBK2_uc010bcz.1_Missense_Mutation_p.F223L	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	258	Protein kinase.				cell death		ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TGGTCTAGAAAGATGCTGAAT	0.393													G	43102862	A	G	43102862	3	3	134	1	0	0	0	0	1	0	0	0	16674	72	3	3	2990	3	TTBK2	15	43102862	Missense_Mutation	SNP	A	TCGA-CD-5799-01A-11D-1600-08	11284301	43102862	59428530	34	78624											
FBN1	2200	broad.mit.edu	37	chr15	48787704	48787704	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttggatccaaagtactttcaGaagaacattcacaaataaaa	5	7	2	2			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr15:48787704G>T	uc001zwx.1	-	21	2829	c.2501C>A	c.(2500-2502)TCT>TAT	p.S834Y		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	834	EGF-like 13; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGTACTTTCAGAAGAACATTC	0.348													T	48787704	G	T	48787704	3	4	134	1	0	0	0	0	1	0	0	0	5702	942	33	5	6298	5	FBN1	15	48787704	Missense_Mutation	SNP	G	TCGA-CD-5799-01A-11D-1600-08	5684842	48787704	53743688	35	78625											
AGBL1	123624	broad.mit.edu	37	chr15	86697783	86697783	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgggctctgcgtgtgtttGcctccagtggtaagtgactc	13	10	2	1			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr15:86697783G>T	uc002blz.1	+	3	327	c.247G>T	c.(247-249)GCC>TCC	p.A83S		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	83					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						GCGTGTGTTTGCCTCCAGTGG	0.522													T	86697783	G	T	86697783	3	4	134	1	0	0	0	0	1	0	0	0	375	1319	46	5	253	5	AGBL1	15	86697783	Missense_Mutation	SNP	G	TCGA-CD-5799-01A-11D-1600-08	37910079	86697783	15833609	36	78626											
CDH1	999	broad.mit.edu	37	chr16	68847277	68847277	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caccacactgaaagtgactgAtgctgatgcccccaataccc	7	15	0	4			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr16:68847277A>T	uc002ewg.1	+	9	1323	c.1199A>T	c.(1198-1200)GAT>GTT	p.D400V	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Intron	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	400	Cadherin 3.|Extracellular (Potential).		Missing (in a gastric carcinoma sample; loss of heterozygosity).		adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(5)|p.T399fs*17(3)|p.D400del(1)|p.D400Y(1)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AAAGTGACTGATGCTGATGCC	0.473			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				T	68847277	A	T	68847277	3	4	134	1	0	0	0	0	1	0	0	0	3095	333	12	5	1233	5	CDH1	16	68847277	Missense_Mutation	SNP	A	TCGA-CD-5799-01A-11D-1600-08		68847277	21507476	37	78627											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	15	11	1	2	rs11540652		TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr17:7577538C>T	uc002gim.2	-	7	937	c.743G>A	c.(742-744)CGG>CAG	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577538	C	T	7577538	3	4	134	1	0	0	0	0	1	0	0	0	16378	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-CD-5799-01A-11D-1600-08		7577538	73617672	38	78628											
KSR1	8844	broad.mit.edu	37	chr17	25936339	25936339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtttgggatctcaggcGtggtccgagagggacggtga	19	7	1	2			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr17:25936339G>A	uc010crg.2	+	17	2309	c.1864G>A	c.(1864-1866)GTG>ATG	p.V622M	KSR1_uc002gzm.2_Missense_Mutation_p.V401M|KSR1_uc002gzn.2_5'Flank	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras	757	Protein kinase.				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GATCTCAGGCGTGGTCCGAGA	0.542													A	25936339	G	A	25936339	3	1	134	1	0	0	0	0	1	0	0	0	8581	1145	40	1	1918	1	KSR1	17	25936339	Missense_Mutation	SNP	G	TCGA-CD-5799-01A-11D-1600-08	18358801	25936339	55258871	39	78629											
EPB41L3	23136	broad.mit.edu	37	chr18	5438045	5438045	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaatacctggtgatatcTtcagatagttgggcagggtc	11	7	3	2			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr18:5438045T>A	uc002kmt.1	-	6	680	c.594A>T	c.(592-594)GAA>GAT	p.E198D	EPB41L3_uc010wzh.1_Missense_Mutation_p.E198D|EPB41L3_uc002kmu.1_Missense_Mutation_p.E198D|EPB41L3_uc010dkq.1_Missense_Mutation_p.E89D|EPB41L3_uc010dks.1_Missense_Mutation_p.E220D|EPB41L3_uc002kmv.1_Missense_Mutation_p.E89D	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	198	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						TGGTGATATCTTCAGATAGTT	0.408													A	5438045	T	A	5438045	3	1	134	1	0	0	0	0	1	0	0	0	5154	1606	56	5	2737	5	EPB41L3	18	5438045	Missense_Mutation	SNP	T	TCGA-CD-5799-01A-11D-1600-08		5438045	72639203	40	78630											
SMAD4	4089	broad.mit.edu	37	chr18	48591917	48591931	+	In_Frame_Del	DEL	TCGCTTTTGTTTGGG	TCGCTTTTGTTTGGG	-													gtggacccttctggaggagaTcgcttttgtttgggtcaact					rs80338963	byFrequency	TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr18:48591917_48591931delTCGCTTTTGTTTGGG	uc010xdp.1	+	9	1618_1632	c.1080_1094delTCGCTTTTGTTTGGG	c.(1078-1095)GATCGCTTTTGTTTGGGT>GAT	p.RFCLG361del	SMAD4_uc002lfb.3_In_Frame_Del_p.RFCLG206del	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	361_365	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.R361C(6)|p.R361H(3)|p.?(2)|p.F362fs*2(1)|p.R361S(1)|p.C363R(1)|p.C363S(1)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CTGGAGGAGATCGCTTTTGTTTGGGTCAACTCTCC	0.409									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				-	48591931	TCGCTTTTGTTTGGG	-	48591917	7	5	134	1	0	1	0	1	0	0	0	0	14760	1432	50	0	1110	0	SMAD4	18	48591917	In_Frame_Del	DEL	TCGCTTTTGTTTGGG	TCGA-CD-5799-01A-11D-1600-08	43153872	48591917	29485331	41	78631											
C3	718	broad.mit.edu	37	chr19	6710823	6710823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgggctctcgcacctggcGtcccgccttcaacagcctgc	11	19	2	0			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr19:6710823G>A	uc002mfm.2	-	13	1575	c.1513C>T	c.(1513-1515)CGC>TGC	p.R505C		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	505					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CGCACCTGGCGTCCCGCCTTC	0.652													A	6710823	G	A	6710823	3	1	134	1	0	0	0	0	1	0	0	0	2204	1145	40	1	3594	1	C3	19	6710823	Missense_Mutation	SNP	G	TCGA-CD-5799-01A-11D-1600-08		6710823	52418160	42	78632											
INSR	3643	broad.mit.edu	37	chr19	7132258	7132258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgcacgctgtagttccccGgtgacagcccacgcagcctg	11	16	0	1			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr19:7132258G>A	uc002mgd.1	-	14	2862	c.2753C>T	c.(2752-2754)CCG>CTG	p.P918L	INSR_uc002mge.1_Missense_Mutation_p.P906L	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	918	Fibronectin type-III 3.|Extracellular (Potential).				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTAGTTCCCCGGTGACAGCCC	0.607													A	7132258	G	A	7132258	3	1	134	1	0	0	0	0	1	0	0	0	7773	1116	39	1	1431	1	INSR	19	7132258	Missense_Mutation	SNP	G	TCGA-CD-5799-01A-11D-1600-08	421435	7132258	51996725	43	78633											
COL5A3	50509	broad.mit.edu	37	chr19	10100039	10100039	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggggccctcatgtcctgggtGaccctggggaagaaacattc	14	11	1	2			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr19:10100039G>T	uc002mmq.1	-	26	2136	c.2050C>A	c.(2050-2052)CAC>AAC	p.H684N		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	684	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			TGTCCTGGGTGACCCTGGGGA	0.582													T	10100039	G	T	10100039	3	4	134	1	0	0	0	0	1	0	0	0	3698	1290	45	5	3355	5	COL5A3	19	10100039	Missense_Mutation	SNP	G	TCGA-CD-5799-01A-11D-1600-08	2967781	10100039	49028944	44	78634											
ZNF257	113835	broad.mit.edu	37	chr19	22271685	22271685	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctacaaatgtgaagagtgtgGaaaagcctttaaccggtctt	10	7	1	2			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr19:22271685G>C	uc010ecx.2	+	4	1302	c.1133G>C	c.(1132-1134)GGA>GCA	p.G378A	ZNF257_uc010ecy.2_Missense_Mutation_p.G346A	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	378	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAAGAGTGTGGAAAAGCCTTT	0.373													C	22271685	G	C	22271685	3	2	134	1	0	0	0	0	1	0	0	0	17797	1174	41	5	1147	5	ZNF257	19	22271685	Missense_Mutation	SNP	G	TCGA-CD-5799-01A-11D-1600-08	12171646	22271685	36857298	45	78635											
TSKS	60385	broad.mit.edu	37	chr19	50249743	50249743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacctcagctcttcgatgcCggtgaacagcttctgcaatt	8	14	3	1			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr19:50249743C>T	uc002ppm.2	-	6	987	c.976G>A	c.(976-978)GGC>AGC	p.G326S		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	326							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TCTTCGATGCCGGTGAACAGC	0.697													T	50249743	C	T	50249743	3	4	134	1	0	0	0	0	1	0	0	0	16623	652	23	1	826	1	TSKS	19	50249743	Missense_Mutation	SNP	C	TCGA-CD-5799-01A-11D-1600-08	27978058	50249743	8879240	46	78636											
AURKC	6795	broad.mit.edu	37	chr19	57746374	57746374	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctatgagctgctggtgggatAtccaccctttgagagcgcct	12	11	0	2			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr19:57746374A>T	uc002qoe.2	+	6	896	c.707A>T	c.(706-708)TAT>TTT	p.Y236F	AURKC_uc002qoc.2_Missense_Mutation_p.Y217F|AURKC_uc002qod.2_Missense_Mutation_p.Y202F|AURKC_uc010etv.2_Missense_Mutation_p.Y233F	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	236	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		CTGGTGGGATATCCACCCTTT	0.527													T	57746374	A	T	57746374	3	4	134	1	0	0	0	0	1	0	0	0	1224	449	16	5	734	5	AURKC	19	57746374	Missense_Mutation	SNP	A	TCGA-CD-5799-01A-11D-1600-08	7496631	57746374	1382609	47	78637											
C20orf177	63939	broad.mit.edu	37	chr20	58519694	58519694	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaattgctagtgctctgtcCaagccactacctcaccagga	7	14	2	0			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr20:58519694C>A	uc002yba.2	+	5	1111	c.696C>A	c.(694-696)TCC>TCA	p.S232S	C20orf177_uc010zzx.1_Silent_p.S75S|C20orf177_uc002ybc.2_Silent_p.S232S	NM_022106	NP_071389	Q9NTX9	CT177_HUMAN	hypothetical protein LOC63939	232										ovary(2)|breast(1)	3	all_lung(29;0.00693)		BRCA - Breast invasive adenocarcinoma(7;1.22e-08)			GTGCTCTGTCCAAGCCACTAC	0.522													A	58519694	C	A	58519694	2	1	134	1	0	0	0	0	0	0	0	1	2096	581	21	5		5	C20orf177	20	58519694	Silent	SNP	C	TCGA-CD-5799-01A-11D-1600-08		58519694	4505826	48	78638											
PRPF6	24148	broad.mit.edu	37	chr20	62658497	62658497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggagaaggcgcgggaaGcctataaccagggggtacgt	17	7	0	2			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr20:62658497G>A	uc002yho.2	+	16	2359	c.2191G>A	c.(2191-2193)GCC>ACC	p.A731T	PRPF6_uc002yhp.2_Missense_Mutation_p.A691T	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	731	HAT 8.				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GGCGCGGGAAGCCTATAACCA	0.617													A	62658497	G	A	62658497	3	1	134	1	0	0	0	0	1	0	0	0	12574	971	34	2	2253	2	PRPF6	20	62658497	Missense_Mutation	SNP	G	TCGA-CD-5799-01A-11D-1600-08	4138803	62658497	367023	49	78639											
TIAM1	7074	broad.mit.edu	37	chr21	32493037	32493037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtcagtgtccccaccaccGgggggctgctgggactcttt	14	14	2	0			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr21:32493037G>A	uc002yow.1	-	29	4897	c.4425C>T	c.(4423-4425)CCC>CCT	p.P1475P	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Silent_p.P1415P	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1475					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CCCCACCACCGGGGGGCTGCT	0.572													A	32493037	G	A	32493037	2	1	134	1	0	0	0	0	0	0	0	1	15887	1103	39	1		1	TIAM1	21	32493037	Silent	SNP	G	TCGA-CD-5799-01A-11D-1600-08		32493037	15636858	50	78640											
SFRS15	57466	broad.mit.edu	37	chr21	33044158	33044158	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaagatcttcttccaaAcctttcttggtctctacctg	4	13	4	1			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr21:33044158A>C	uc002ypd.2	-	20	3424	c.2998T>G	c.(2998-3000)TTT>GTT	p.F1000V	SFRS15_uc002ype.2_Missense_Mutation_p.F978V|SFRS15_uc010glu.2_Missense_Mutation_p.F985V	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	1000						nucleus	nucleotide binding|RNA binding				0						CTTCTTCCAAACCTTTCTTGG	0.443													C	33044158	A	C	33044158	3	2	134	1	0	0	0	0	1	0	0	0	14171	43	2	5	449	5	SFRS15	21	33044158	Missense_Mutation	SNP	A	TCGA-CD-5799-01A-11D-1600-08	551121	33044158	15085737	51	78641											
GTPBP1	9567	broad.mit.edu	37	chr22	39122390	39122390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatccatccatcgcaagcGcatgcctgtcaaggaggtgc	10	13	1	0			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr22:39122390G>A	uc003awg.2	+	8	1500	c.1346G>A	c.(1345-1347)CGC>CAC	p.R449H		NM_004286	NP_004277	O00178	GTPB1_HUMAN	GTP binding protein 1	449					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			ovary(1)	1	Melanoma(58;0.04)					CATCGCAAGCGCATGCCTGTC	0.552													A	39122390	G	A	39122390	3	1	134	1	0	0	0	0	1	0	0	0	6878	1087	38	1	1376	1	GTPBP1	22	39122390	Missense_Mutation	SNP	G	TCGA-CD-5799-01A-11D-1600-08		39122390	12182176	52	78642											
SSX1	6756	broad.mit.edu	37	chrX	48116745	48116745	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatcagagaagagaagcaaGgtgacgtgacctggaggggg	18	6	1	4			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chrX:48116745G>T	uc004djb.1	+	2	160	c.69G>T	c.(67-69)AAG>AAT	p.K23N		NM_005635	NP_005626	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	23	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)	soft_tissue(1169)	1169						AGAGAAGCAAGGTGACGTGAC	0.562													T	48116745	G	T	48116745	3	4	134	1	0	0	0	0	1	0	0	0	15202	1014	35	5	71	5	SSX1	23	48116745	Missense_Mutation	SNP	G	TCGA-CD-5799-01A-11D-1600-08		48116745	107153815	53	78643											
SERPINA7	6906	broad.mit.edu	37	chrX	105279201	105279201	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggaagaacaaagagtgcCagagcattcttgctgtagtc	12	7	1	3			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chrX:105279201C>T	uc004eme.1	-	2	814	c.798G>A	c.(796-798)CTG>CTA	p.L266L	SERPINA7_uc010npd.2_Silent_p.L266L|SERPINA7_uc010npe.1_Silent_p.L266L	NM_000354	NP_000345	P05543	THBG_HUMAN	serine (or cysteine) proteinase inhibitor, clade	266					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity				0					Levothyroxine(DB00451)|Liothyronine(DB00279)	CAAAGAGTGCCAGAGCATTCT	0.463													T	105279201	C	T	105279201	2	4	134	1	0	0	0	0	0	0	0	1	14094	581	21	4		4	SERPINA7	23	105279201	Silent	SNP	C	TCGA-CD-5799-01A-11D-1600-08	57162456	105279201	49991359	54	78644											
MAGEC1	9947	broad.mit.edu	37	chrX	140995215	140995215	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggatgcactcccaatctccTctccagagtcctgagagtgc	10	14	2	2			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chrX:140995215T>A	uc004fbt.2	+	4	2311	c.2025T>A	c.(2023-2025)CCT>CCA	p.P675P	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	675							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAATCTCCTCTCCAGAGTC	0.572										HNSCC(15;0.026)			A	140995215	T	A	140995215	2	1	134	1	0	0	0	0	0	0	0	1	9180	1538	54	5		5	MAGEC1	23	140995215	Silent	SNP	T	TCGA-CD-5799-01A-11D-1600-08	35716014	140995215	14275345	55	78645											
S100PBP	64766	broad.mit.edu	37	chr1	33291908	33291908	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggaagatgacccatcatatGagcagtcttctggggaagat	12	7	3	4			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr1:33291908G>A	uc001bvz.2	+	3	485	c.208G>A	c.(208-210)GAG>AAG	p.E70K	S100PBP_uc001bwa.1_Missense_Mutation_p.E70K|S100PBP_uc001bwb.1_Missense_Mutation_p.E70K|S100PBP_uc001bwc.2_Missense_Mutation_p.E70K|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	70						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCCATCATATGAGCAGTCTTC	0.453													A	33291908	G	A	33291908	3	1	135	1	0	0	0	0	1	0	0	0	13791	1291	45	4	210	4	S100PBP	1	33291908	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08		33291908	215958713	1	78646											
MAP7D1	55700	broad.mit.edu	37	chr1	36645160	36645160	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaacggttccagcccaggTaaagcccccattcctctcgc	8	18	1	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr1:36645160T>C	uc001bzz.2	+	14	2446	c.2230_splice	c.e14+2	p.E744_splice	MAP7D1_uc001caa.2_Splice_Site_p.E711_splice|MAP7D1_uc001cab.2_Splice_Site_p.E706_splice|MAP7D1_uc001cac.2_Splice_Site_p.E443_splice|MAP7D1_uc001cad.2_Splice_Site_p.E280_splice	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1							cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)				CCAGCCCAGGTAAAGccccca	0.388													C	36645160	T	C	36645160	5	2	135	1	0	0	0	0	0	0	1	0	9267	1652	57	3	2286	3	MAP7D1	1	36645160	Splice_Site	SNP	T	TCGA-CD-5800-01A-11D-1600-08	3353252	36645160	212605461	2	78647											
STK40	83931	broad.mit.edu	37	chr1	36807526	36807526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagcagcagctgctgacGcatgtagttctcaaactcgt	11	12	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr1:36807526G>A	uc001cak.1	-	12	1545	c.1138C>T	c.(1138-1140)CGT>TGT	p.R380C	STK40_uc001cal.1_Missense_Mutation_p.R385C|STK40_uc001cam.1_Missense_Mutation_p.R380C|STK40_uc009vva.1_3'UTR|STK40_uc001can.1_3'UTR	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	380						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1		Myeloproliferative disorder(586;0.0393)				AGCTGCTGACGCATGTAGTTC	0.612													A	36807526	G	A	36807526	3	1	135	1	0	0	0	0	1	0	0	0	15306	1087	38	1	173	1	STK40	1	36807526	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	162366	36807526	212443095	3	78648											
HIVEP3	59269	broad.mit.edu	37	chr1	41990510	41990511	+	Frame_Shift_Ins	INS	-	-	C													gggcttcttgcagcgaattcINScacactcctcacaaacatat							TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr1:41990509_41990510T>TC	uc001cgz.4	-	5	6492_6493	c.5279_5280A>GA	c.(5278-5280)ggafs	p.G1760fs	HIVEP3_uc001cha.4_Frame_Shift_Ins_p.G1760fs|HIVEP3_uc001cgy.3_Intron	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1760	ZAS2.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGCAGCGAATTCCACACTCCTC	0.495													C	41990511	-	C	41990510	7	5	135	1	0	1	1	0	0	0	0	0	7188	855	30	0	1957	0	HIVEP3	1	41990510	Frame_Shift_Ins	INS	-	TCGA-CD-5800-01A-11D-1600-08	5182984	41990510	207260111	4	78649											
GLIS1	148979	broad.mit.edu	37	chr1	54059815	54059815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcttctcgcccgagtgcactCgcatgtggatgagcagcttg	13	12	1	1	rs145199173		TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr1:54059815C>T	uc001cvr.1	-	3	1328	c.761G>A	c.(760-762)CGA>CAA	p.R254Q		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	254	C2H2-type 2; atypical.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			skin(1)	1						CGAGTGCACTCGCATGTGGAT	0.652													T	54059815	C	T	54059815	3	4	135	1	0	0	0	0	1	0	0	0	6445	884	31	1	1133	1	GLIS1	1	54059815	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	12069305	54059815	195190806	5	78650											
DIRAS3	9077	broad.mit.edu	37	chr1	68512693	68512693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcagagcgcggttgccGtcgccactcttgctgtcggt	14	14	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr1:68512693G>A	uc001ded.2	-	2	583	c.288C>T	c.(286-288)GAC>GAT	p.D96D	uc001deb.1_Intron|uc001dec.1_Intron	NM_004675	NP_004666	O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	96					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			skin(1)	1						CGCGGTTGCCGTCGCCACTCT	0.592													A	68512693	G	A	68512693	2	1	135	1	0	0	0	0	0	0	0	1	4532	1136	40	1		1	DIRAS3	1	68512693	Silent	SNP	G	TCGA-CD-5800-01A-11D-1600-08	14452878	68512693	180737928	6	78651											
ELTD1	64123	broad.mit.edu	37	chr1	79386012	79386012	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgcatatggcaagacaaatCagtgaaataattattcctag	7	6	1	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr1:79386012C>T	uc001diq.3	-	10	1473	c.1317G>A	c.(1315-1317)CTG>CTA	p.L439L		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	439	Helical; Name=1; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CAAGACAAATCAGTGAAATAA	0.308													T	79386012	C	T	79386012	2	4	135	1	0	0	0	0	0	0	0	1	5084	813	29	4		4	ELTD1	1	79386012	Silent	SNP	C	TCGA-CD-5800-01A-11D-1600-08	10873319	79386012	169864609	7	78652											
VAV3	10451	broad.mit.edu	37	chr1	108152584	108152584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaataatctactggtttggGcacctaggatataaaaaagc	9	6	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr1:108152584G>A	uc001dvk.1	-	22	2038	c.1984C>T	c.(1984-1986)CCC>TCC	p.P662S	VAV3_uc010ouu.1_Missense_Mutation_p.P66S|VAV3_uc001dvj.1_Missense_Mutation_p.P102S|VAV3_uc010ouv.1_Missense_Mutation_p.P66S|VAV3_uc010ouw.1_Missense_Mutation_p.P662S	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	662					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ACTGGTTTGGGCACCTAGGAT	0.348													A	108152584	G	A	108152584	3	1	135	1	0	0	0	0	1	0	0	0	17130	1203	42	2	583	2	VAV3	1	108152584	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	28766572	108152584	141098037	8	78653											
MAGI3	260425	broad.mit.edu	37	chr1	114133188	114133189	+	Frame_Shift_Ins	INS	-	-	A													caaatagctccatggactttINSagaaattatatgatgagaga							TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr1:114133187_114133188T>TA	uc001edk.3	+	4	1026_1027	c.845_846T>TA	c.(844-846)tttfs	p.F282fs	MAGI3_uc001edh.3_Frame_Shift_Ins_p.F282fs|MAGI3_uc001edi.4_Frame_Shift_Ins_p.F282fs|MAGI3_uc010owm.2_Frame_Shift_Ins_p.F282fs|MAGI3_uc001edj.3_Frame_Shift_Ins_p.F3fs	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	282	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCATGGACTTTAGAAATTATA	0.416													A	114133189	-	A	114133188	7	5	135	1	0	1	1	0	0	0	0	0	9192	1751	61	0	864	0	MAGI3	1	114133188	Frame_Shift_Ins	INS	-	TCGA-CD-5800-01A-11D-1600-08	5980604	114133188	135117433	9	78654											
TTF2	8458	broad.mit.edu	37	chr1	117618400	117618400	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagaaaggtgtctcctgcCtcaggtgtttccaagaaggt	11	9	2	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr1:117618400C>T	uc001egy.2	+	5	1214	c.1194C>T	c.(1192-1194)GCC>GCT	p.A398A	TTF2_uc001egx.1_Silent_p.A398A	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	398					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGTCTCCTGCCTCAGGTGTTT	0.493													T	117618400	C	T	117618400	2	4	135	1	0	0	0	0	0	0	0	1	16716	668	24	4		4	TTF2	1	117618400	Silent	SNP	C	TCGA-CD-5800-01A-11D-1600-08	3485212	117618400	131632221	10	78655											
DENND4B	9909	broad.mit.edu	37	chr1	153914789	153914789	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggcactgactcgggcagCgggaacgcctcattgtcctc	13	14	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr1:153914789C>T	uc001fdd.1	-	5	1085	c.684G>A	c.(682-684)CCG>CCA	p.P228P		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	228	UDENN.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACTCGGGCAGCGGGAACGCCT	0.637													T	153914789	C	T	153914789	2	4	135	1	0	0	0	0	0	0	0	1	4434	755	27	1		1	DENND4B	1	153914789	Silent	SNP	C	TCGA-CD-5800-01A-11D-1600-08	36296389	153914789	95335832	11	78656											
TIPRL	261726	broad.mit.edu	37	chr1	168169139	168169139	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatgatttatgtatttcctAgcatgttccaccttccctct	4	11	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr1:168169139A>G	uc001gfg.2	+	7	821	c.676_splice	c.e7-2	p.H226_splice	TIPRL_uc001gfh.2_Splice_Site_p.T227_splice	NM_152902	NP_690866	O75663	TIPRL_HUMAN	TIP41, TOR signalling pathway regulator-like						DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			ovary(1)	1	all_hematologic(923;0.215)					TGTATTTCCTAGCATGTTCCA	0.313													G	168169139	A	G	168169139	5	3	135	1	0	0	0	0	0	0	1	0	15923	434	15	3	725	3	TIPRL	1	168169139	Splice_Site	SNP	A	TCGA-CD-5800-01A-11D-1600-08	14254350	168169139	81081482	12	78657											
RABGAP1L	9910	broad.mit.edu	37	chr1	174606593	174606593	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tactttaaagatactggaggAgatggtcaagaatcgctcta	10	6	2	3			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr1:174606593A>T	uc001gjx.2	+	14	1986	c.1791A>T	c.(1789-1791)GGA>GGT	p.G597G		NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	597	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4						ATACTGGAGGAGATGGTCAAG	0.363													T	174606593	A	T	174606593	2	4	135	1	0	0	0	0	0	0	0	1	12965	291	11	5		5	RABGAP1L	1	174606593	Silent	SNP	A	TCGA-CD-5800-01A-11D-1600-08	6437454	174606593	74644028	13	78658											
CEP350	9857	broad.mit.edu	37	chr1	179989418	179989418	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caacagctgcttctttgtccAgcagaattgaaagtgaagcc	9	10	1	3			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr1:179989418A>C	uc001gnt.2	+	12	2892	c.2509A>C	c.(2509-2511)AGC>CGC	p.S837R	CEP350_uc009wxl.2_Missense_Mutation_p.S836R|CEP350_uc001gnu.2_Missense_Mutation_p.S671R	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	837						centrosome|nucleus|spindle				ovary(4)	4						TTCTTTGTCCAGCAGAATTGA	0.443													C	179989418	A	C	179989418	3	2	135	1	0	0	0	0	1	0	0	0	3254	188	7	5	2551	5	CEP350	1	179989418	Missense_Mutation	SNP	A	TCGA-CD-5800-01A-11D-1600-08	5382825	179989418	69261203	14	78659											
ASPM	259266	broad.mit.edu	37	chr1	197112225	197112225	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggataaaataggattaactGactctgattctagatcctga	9	6	2	4			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr1:197112225G>A	uc001gtu.2	-	3	1414	c.1157C>T	c.(1156-1158)TCA>TTA	p.S386L	ASPM_uc001gtv.2_Missense_Mutation_p.S386L|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	386					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						AGGATTAACTGACTCTGATTC	0.279													A	197112225	G	A	197112225	3	1	135	1	0	0	0	0	1	0	0	0	1056	1294	45	4	9380	4	ASPM	1	197112225	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	17122807	197112225	52138396	15	78660											
WDR64	128025	broad.mit.edu	37	chr1	241959588	241959588	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccactagtctaagatttctTccactgattggcgtagaagc	8	11	2	3			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr1:241959588T>A	uc001hzf.1	+	16	1890	c.1737T>A	c.(1735-1737)CTT>CTA	p.L579L	WDR64_uc001hzg.1_Silent_p.L492L	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1026										skin(1)	1	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TAAGATTTCTTCCACTGATTG	0.398													A	241959588	T	A	241959588	2	1	135	1	0	0	0	0	0	0	0	1	17312	1770	62	5		5	WDR64	1	241959588	Silent	SNP	T	TCGA-CD-5800-01A-11D-1600-08	44847363	241959588	7291033	16	78661											
PPM1B	5495	broad.mit.edu	37	chr2	44428441	44428441	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcatgcaaggatggagagtgGaaatggaagatgcacacaca	14	6	0	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr2:44428441G>C	uc002rtt.2	+	2	531	c.103G>C	c.(103-105)GAA>CAA	p.E35Q	PPM1B_uc002rts.2_Missense_Mutation_p.E35Q|PPM1B_uc002rtu.2_Missense_Mutation_p.E35Q|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.E35Q|PPM1B_uc002rtx.2_Missense_Mutation_p.E35Q	NM_002706	NP_002697	O75688	PPM1B_HUMAN	protein phosphatase 1B isoform 1	35					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATGGAGAGTGGAAATGGAAGA	0.463													C	44428441	G	C	44428441	3	2	135	1	0	0	0	0	1	0	0	0	12336	1175	41	5	105	5	PPM1B	2	44428441	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08		44428441	198770932	17	78662											
PROM2	150696	broad.mit.edu	37	chr2	95952270	95952270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgcaggaggaggcccaagGactcagaaaccttcaccagg	13	12	2	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr2:95952270G>A	uc002suh.1	+	17	2124	c.1991G>A	c.(1990-1992)GGA>GAA	p.G664E	PROM2_uc002sui.2_Missense_Mutation_p.G664E|PROM2_uc002suj.2_Missense_Mutation_p.G318E|PROM2_uc002suk.2_Missense_Mutation_p.G664E|PROM2_uc002sul.2_Missense_Mutation_p.G190E|PROM2_uc002sum.2_RNA	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	664	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1						GAGGCCCAAGGACTCAGAAAC	0.627													A	95952270	G	A	95952270	3	1	135	1	0	0	0	0	1	0	0	0	12556	1174	41	4	2057	4	PROM2	2	95952270	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	51523829	95952270	147247103	18	78663											
LONRF2	164832	broad.mit.edu	37	chr2	100912008	100912008	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttatgttaaagtttctgcttGccaataactgtaacaaaaaa	5	6	1	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr2:100912008G>T	uc002tal.3	-	8	2124	c.1484C>A	c.(1483-1485)GCA>GAA	p.A495E	LONRF2_uc010yvs.1_RNA	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger	495					proteolysis		ATP-dependent peptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2						GTTTCTGCTTGCCAATAACTG	0.368													T	100912008	G	T	100912008	3	4	135	1	0	0	0	0	1	0	0	0	8895	1319	46	5	800	5	LONRF2	2	100912008	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	4959738	100912008	142287365	19	78664											
DPP10	57628	broad.mit.edu	37	chr2	116538567	116538567	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacatttcttattattctgTgaaggtaagataatacatga	6	5	2	3			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr2:116538567T>C	uc002tla.1	+	16	1936	c.1479T>C	c.(1477-1479)TGT>TGC	p.C493C	DPP10_uc002tlb.1_Silent_p.C443C|DPP10_uc002tlc.1_Silent_p.C489C|DPP10_uc002tle.2_Silent_p.C497C|DPP10_uc002tlf.1_Silent_p.C486C	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	493	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						TATTATTCTGTGAAGGTAAGA	0.279													C	116538567	T	C	116538567	2	2	135	1	0	0	0	0	0	0	0	1	4727	1702	59	3		3	DPP10	2	116538567	Silent	SNP	T	TCGA-CD-5800-01A-11D-1600-08	15626559	116538567	126660806	20	78665											
KCNJ3	3760	broad.mit.edu	37	chr2	155566118	155566118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgtgtgcttgtctagtctCggcagacacctgagggtgag	14	9	3	3			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr2:155566118C>T	uc002tyv.1	+	2	901	c.706C>T	c.(706-708)CGG>TGG	p.R236W	KCNJ3_uc010zce.1_Intron	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	236	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	TGTCTAGTCTCGGCAGACACC	0.453													T	155566118	C	T	155566118	3	4	135	1	0	0	0	0	1	0	0	0	8052	875	31	1	712	1	KCNJ3	2	155566118	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	39027551	155566118	87633255	21	78666											
SCN1A	6323	broad.mit.edu	37	chr2	166847826	166847826	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aattggctttgtcacccggtCataggaaggtggacaagctg	13	8	2	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr2:166847826C>T	uc010zcz.1	-	26	5944	c.5926G>A	c.(5926-5928)GAC>AAC	p.D1976N		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1987						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTCACCCGGTCATAGGAAGGT	0.343													T	166847826	C	T	166847826	3	4	135	1	0	0	0	0	1	0	0	0	13914	826	29	4	74	4	SCN1A	2	166847826	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	11281708	166847826	76351547	22	78667											
XIRP2	129446	broad.mit.edu	37	chr2	168100087	168100087	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaaagaaattaagggaaatGttaaaagaagtataaaatgt	8	1	1	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr2:168100087G>T	uc002udx.2	+	8	2203	c.2185G>T	c.(2185-2187)GTT>TTT	p.V729F	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.V554F|XIRP2_uc010fpq.2_Missense_Mutation_p.V507F|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	554	Xin 6.				actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TAAGGGAAATGTTAAAAGAAG	0.363													T	168100087	G	T	168100087	3	4	135	1	0	0	0	0	1	0	0	0	17427	1377	48	5	2215	5	XIRP2	2	168100087	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	1252261	168100087	75099286	23	78668											
TTN	7273	broad.mit.edu	37	chr2	179482993	179482993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtttcttgcactcacaCggaataggtactcaactcct	6	13	4	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr2:179482993C>T	uc010zfg.1	-	201	39712	c.39488G>A	c.(39487-39489)CGT>CAT	p.R13163H	TTN_uc010zfh.1_Missense_Mutation_p.R6858H|TTN_uc010zfi.1_Missense_Mutation_p.R6791H|TTN_uc010zfj.1_Missense_Mutation_p.R6666H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14090							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCACTCACACGGAATAGGTA	0.438													T	179482993	C	T	179482993	3	4	135	1	0	0	0	0	1	0	0	0	16732	536	19	1	60945	1	TTN	2	179482993	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	11382906	179482993	63716380	24	78669											
ADAM23	8745	broad.mit.edu	37	chr2	207429756	207429756	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaccagaatgtgactgcaCagaatcctggggtggctgca	14	9	0	3			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr2:207429756C>A	uc002vbq.2	+	14	1581	c.1358C>A	c.(1357-1359)ACA>AAA	p.T453K	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	453	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGTGACTGCACAGAATCCTGG	0.353													A	207429756	C	A	207429756	3	1	135	1	0	0	0	0	1	0	0	0	245	478	17	5	1412	5	ADAM23	2	207429756	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	27946763	207429756	35769617	25	78670											
ITGA9	3680	broad.mit.edu	37	chr3	37845379	37845379	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggggtggatcatcgccatCagtttgttggtgggaatcct	15	7	2	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr3:37845379C>T	uc003chd.2	+	27	3008	c.2955C>T	c.(2953-2955)ATC>ATT	p.I985I		NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	985	Helical; (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TCATCGCCATCAGTTTGTTGG	0.557													T	37845379	C	T	37845379	2	4	135	1	0	0	0	0	0	0	0	1	7883	816	29	4		4	ITGA9	3	37845379	Silent	SNP	C	TCGA-CD-5800-01A-11D-1600-08		37845379	160177051	26	78671											
CCDC13	152206	broad.mit.edu	37	chr3	42788762	42788762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagaccttctgtgccatcCgcagctcctgcttcacagac	8	15	2	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr3:42788762C>T	uc003cly.3	-	6	791	c.707G>A	c.(706-708)CGG>CAG	p.R236Q	CCDC13_uc003clz.2_Missense_Mutation_p.R236Q|CCDC13_uc011azq.1_3'UTR	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	236	Potential.									ovary(1)	1						CTGTGCCATCCGCAGCTCCTG	0.592													T	42788762	C	T	42788762	3	4	135	1	0	0	0	0	1	0	0	0	2765	652	23	1	1484	1	CCDC13	3	42788762	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	4943383	42788762	155233668	27	78672											
KLHL18	23276	broad.mit.edu	37	chr3	47378200	47378200	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtggaggcctacaacccGgagacagacacatggaccag	12	12	0	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr3:47378200G>A	uc003crd.2	+	7	1200	c.1074G>A	c.(1072-1074)CCG>CCA	p.P358P	KLHL18_uc003crc.2_Silent_p.P358P|KLHL18_uc011bav.1_Silent_p.P246P|KLHL18_uc010hjq.1_Silent_p.P214P	NM_025010	NP_079286	O94889	KLH18_HUMAN	kelch-like 18	358	Kelch 2.										0		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CCTACAACCCGGAGACAGACA	0.597													A	47378200	G	A	47378200	2	1	135	1	0	0	0	0	0	0	0	1	8373	1103	39	1		1	KLHL18	3	47378200	Silent	SNP	G	TCGA-CD-5800-01A-11D-1600-08	4589438	47378200	150644230	28	78673											
MAP4	4134	broad.mit.edu	37	chr3	47913507	47913507	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgcaacagtctgagtgctCttggacccagatctggaggc	12	10	3	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr3:47913507C>A	uc003csb.2	-	11	2932	c.2406G>T	c.(2404-2406)AAG>AAT	p.K802N	MAP4_uc003csc.3_Missense_Mutation_p.K802N|MAP4_uc003crw.2_5'Flank|MAP4_uc003crx.2_Missense_Mutation_p.K62N|MAP4_uc011bbe.1_Missense_Mutation_p.K553N|MAP4_uc003cry.2_Missense_Mutation_p.K537N|MAP4_uc003csa.3_Missense_Mutation_p.K537N|MAP4_uc003crz.3_RNA|MAP4_uc003csd.2_Missense_Mutation_p.K537N	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	802					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TCTGAGTGCTCTTGGACCCAG	0.577													A	47913507	C	A	47913507	3	1	135	1	0	0	0	0	1	0	0	0	9258	912	32	5	1239	5	MAP4	3	47913507	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	535307	47913507	150108923	29	78674											
C3orf63	23272	broad.mit.edu	37	chr3	56657367	56657367	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactatatcaatagaagttcTctcttcagaatcaaggtaag	6	7	5	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr3:56657367T>C	uc003did.3	-	23	4629	c.4528A>G	c.(4528-4530)AGA>GGA	p.R1510G	C3orf63_uc003dib.3_Missense_Mutation_p.R629G|C3orf63_uc003dic.3_Missense_Mutation_p.R1134G|C3orf63_uc003die.3_3'UTR	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	1571										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		ATAGAAGTTCTCTCTTCAGAA	0.318													C	56657367	T	C	56657367	3	2	135	1	0	0	0	0	1	0	0	0	2239	1559	54	3	305	3	C3orf63	3	56657367	Missense_Mutation	SNP	T	TCGA-CD-5800-01A-11D-1600-08	8743860	56657367	141365063	30	78675											
PROS1	5627	broad.mit.edu	37	chr3	93646135	93646135	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacctccctggcttcttcttTattgcacagttcttcgatgc	7	13	3	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr3:93646135T>C	uc003drb.3	-	2	534	c.193A>G	c.(193-195)AAA>GAA	p.K65E	PROS1_uc010hoo.2_Translation_Start_Site|PROS1_uc003dqz.3_Translation_Start_Site	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	65	Gla.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GCTTCTTCTTTATTGCACAGT	0.413													C	93646135	T	C	93646135	3	2	135	1	0	0	0	0	1	0	0	0	12558	1763	61	3	1893	3	PROS1	3	93646135	Missense_Mutation	SNP	T	TCGA-CD-5800-01A-11D-1600-08	36988768	93646135	104376295	31	78676											
EPHB1	2047	broad.mit.edu	37	chr3	134851754	134851754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggcagctgggcctgaCggagtgccgcgtctccatca	14	15	2	1	rs56396912		TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr3:134851754C>T	uc003eqt.2	+	5	1380	c.1160C>T	c.(1159-1161)ACG>ATG	p.T387M	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_Translation_Start_Site	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	387	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.T387M(4)|p.T387T(1)		lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						CTGGGCCTGACGGAGTGCCGC	0.612													T	134851754	C	T	134851754	3	4	135	1	0	0	0	0	1	0	0	0	5174	536	19	1	1178	1	EPHB1	3	134851754	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	41205619	134851754	63170676	32	78677											
NLGN1	22871	broad.mit.edu	37	chr3	173322864	173322864	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctatatttaaatatatAtgtcccgactgaggatggtg	9	7	0	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr3:173322864A>G	uc003fio.1	+	3	899	c.476A>G	c.(475-477)TAT>TGT	p.Y159C	NLGN1_uc010hww.1_Missense_Mutation_p.Y159C|NLGN1_uc003fip.1_Missense_Mutation_p.Y159C	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	159	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTAAATATATATGTCCCGACT	0.343													G	173322864	A	G	173322864	3	3	135	1	0	0	0	0	1	0	0	0	10461	449	16	3	478	3	NLGN1	3	173322864	Missense_Mutation	SNP	A	TCGA-CD-5800-01A-11D-1600-08	38471110	173322864	24699566	33	78678											
SPON2	10417	broad.mit.edu	37	chr4	1165840	1165840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccttgcccagggcggcgGccgggctggggttttccatc	18	13	0	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr4:1165840G>A	uc003gcn.3	-	1	47	c.20C>T	c.(19-21)GCC>GTC	p.A7V	SPON2_uc003gco.3_Missense_Mutation_p.A7V|SPON2_uc010ibr.2_Missense_Mutation_p.A7V|SPON2_uc003gcm.1_5'Flank	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	7					axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CAGGGCGGCGGCCGGGCTGGG	0.726													A	1165840	G	A	1165840	3	1	135	1	0	0	0	0	1	0	0	0	15082	1203	42	2	995	2	SPON2	4	1165840	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08		1165840	189988436	34	78679											
FAM53A	152877	broad.mit.edu	37	chr4	1656730	1656730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcattttcaggaagtccaagGatgggcgtgtccacctggcg	13	10	2	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr4:1656730G>A	uc011bve.1	-	4	1055	c.857C>T	c.(856-858)TCC>TTC	p.S286F	FAM53A_uc010ibw.2_Missense_Mutation_p.S286F	NM_001013622	NP_001013644	Q6NSI3	FA53A_HUMAN	dorsal neural-tube nuclear protein	286						nucleus					0		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			GAAGTCCAAGGATGGGCGTGT	0.637													A	1656730	G	A	1656730	3	1	135	1	0	0	0	0	1	0	0	0	5579	1174	41	4	347	4	FAM53A	4	1656730	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	490890	1656730	189497546	35	78680											
LAP3	51056	broad.mit.edu	37	chr4	17609194	17609194	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attgagttcttacttcgtttCagtcaagacaatgcttagtt	7	7	3	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr4:17609194C>T	uc003gph.1	+	13	1704	c.1542C>T	c.(1540-1542)TTC>TTT	p.F514F		NM_015907	NP_056991	P28838	AMPL_HUMAN	leucine aminopeptidase 3	514					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding				0						TACTTCGTTTCAGTCAAGACA	0.393													T	17609194	C	T	17609194	2	4	135	1	0	0	0	0	0	0	0	1	8623	825	29	4		4	LAP3	4	17609194	Silent	SNP	C	TCGA-CD-5800-01A-11D-1600-08	15952464	17609194	173545082	36	78681											
NCAPG	64151	broad.mit.edu	37	chr4	17814759	17814759	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggatgatgaatgcccaGtggttaatggtgtgtgtagt	14	5	0	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr4:17814759G>C	uc003gpp.2	+	3	711	c.535G>C	c.(535-537)GTG>CTG	p.V179L	NCAPG_uc011bxj.1_5'UTR|DCAF16_uc003gpn.2_5'Flank	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	chromosome condensation protein G	179	HEAT 3.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			large_intestine(1)	1				STAD - Stomach adenocarcinoma(129;0.18)		TGAATGCCCAGTGGTTAATGG	0.318													C	17814759	G	C	17814759	3	2	135	1	0	0	0	0	1	0	0	0	10207	1029	36	5	545	5	NCAPG	4	17814759	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	205565	17814759	173339517	37	78682											
PCDH7	5099	broad.mit.edu	37	chr4	31144151	31144151	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtgcactcgtgagtgtgatGagtatggccactcagactcc	12	10	1	4			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr4:31144151G>A	uc011bxx.1	+	3	4432	c.3424G>A	c.(3424-3426)GAG>AAG	p.E1142K	PCDH7_uc011bxw.1_Missense_Mutation_p.E1095K	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	Error:Variant_position_missing_in_O60245_after_alignment					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						TGAGTGTGATGAGTATGGCCA	0.507													A	31144151	G	A	31144151	3	1	135	1	0	0	0	0	1	0	0	0	11516	1291	45	4	3543	4	PCDH7	4	31144151	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	13329392	31144151	160010125	38	78683											
ARAP2	116984	broad.mit.edu	37	chr4	36069743	36069743	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctgtgtcctccaggcagTtgaaactccgatgttttcgg	11	11	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr4:36069743T>G	uc003gsq.1	-	33	5239	c.4901A>C	c.(4900-4902)AAC>ACC	p.N1634T	ARAP2_uc003gso.2_Intron	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1634					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						CTCCAGGCAGTTGAAACTCCG	0.512													G	36069743	T	G	36069743	3	3	135	1	0	0	0	0	1	0	0	0	839	1725	60	5	217	5	ARAP2	4	36069743	Missense_Mutation	SNP	T	TCGA-CD-5800-01A-11D-1600-08	4925592	36069743	155084533	39	78684											
EPHA5	2044	broad.mit.edu	37	chr4	66467877	66467877	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtcccgcagggtaaatTtgagttctatgaagattctg	11	7	2	3			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr4:66467877T>G	uc003hcy.2	-	3	585	c.392A>C	c.(391-393)AAA>ACA	p.K131T	EPHA5_uc003hcx.2_Missense_Mutation_p.K62T|EPHA5_uc003hcz.2_Missense_Mutation_p.K131T|EPHA5_uc011cah.1_Missense_Mutation_p.K131T|EPHA5_uc011cai.1_Missense_Mutation_p.K131T|EPHA5_uc003hda.2_Missense_Mutation_p.K131T	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	131	Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						CAGGGTAAATTTGAGTTCTAT	0.428										TSP Lung(17;0.13)			G	66467877	T	G	66467877	3	3	135	1	0	0	0	0	1	0	0	0	5170	1841	64	5	2785	5	EPHA5	4	66467877	Missense_Mutation	SNP	T	TCGA-CD-5800-01A-11D-1600-08	30398134	66467877	124686399	40	78685											
BMP2K	55589	broad.mit.edu	37	chr4	79793071	79793071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgcattcggtatatcaacCacaaccttctgcatcacagt	5	12	3	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr4:79793071C>T	uc003hlk.2	+	12	1743	c.1577C>T	c.(1576-1578)CCA>CTA	p.P526L	BMP2K_uc003hlj.2_Missense_Mutation_p.P526L|BMP2K_uc003hll.2_5'Flank	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	526	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1						GTATATCAACCACAACCTTCT	0.323													T	79793071	C	T	79793071	3	4	135	1	0	0	0	0	1	0	0	0	1460	594	21	4	1623	4	BMP2K	4	79793071	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	13325194	79793071	111361205	41	78686											
UNC5C	8633	broad.mit.edu	37	chr4	96127903	96127903	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagctcctgggggcccacagCtcaccacaggggtcaaaagt	13	13	2	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr4:96127903C>A	uc003htp.1	-	11	1932	c.1778G>T	c.(1777-1779)AGC>ATC	p.S593I	UNC5C_uc010ilc.1_Missense_Mutation_p.S612I	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	593	Cytoplasmic (Potential).|ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GGGCCCACAGCTCACCACAGG	0.532													A	96127903	C	A	96127903	3	1	135	1	0	0	0	0	1	0	0	0	16990	797	28	5	1041	5	UNC5C	4	96127903	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	16334832	96127903	95026373	42	78687											
METTL14	57721	broad.mit.edu	37	chr4	119618350	119618350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaataggtacttacaagccGatatagaagcctttgacatc	7	9	0	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr4:119618350G>A	uc003icf.2	+	7	633	c.517G>A	c.(517-519)GAT>AAT	p.D173N	METTL14_uc003icg.2_Missense_Mutation_p.D135N	NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN	methyltransferase like 14	173						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity				0						CTTACAAGCCGATATAGAAGC	0.323													A	119618350	G	A	119618350	3	1	135	1	0	0	0	0	1	0	0	0	9498	1058	37	1	543	1	METTL14	4	119618350	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	23490447	119618350	71535926	43	78688											
MFAP3L	9848	broad.mit.edu	37	chr4	170913336	170913336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccagaagtgaagatgacGcgcaaggtcaccgtgttgtt	12	9	2	4			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr4:170913336G>A	uc003isp.3	-	3	601	c.423C>T	c.(421-423)CGC>CGT	p.R141R	MFAP3L_uc003isn.3_Silent_p.R38R	NM_021647	NP_067679	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like isoform	141	Extracellular (Potential).|Ig-like C2-type.					integral to membrane|plasma membrane				ovary(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		TGAAGATGACGCGCAAGGTCA	0.527													A	170913336	G	A	170913336	2	1	135	1	0	0	0	0	0	0	0	1	9516	1074	38	1		1	MFAP3L	4	170913336	Silent	SNP	G	TCGA-CD-5800-01A-11D-1600-08	51294986	170913336	20240940	44	78689											
ODZ3	55714	broad.mit.edu	37	chr4	183696162	183696162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacactaccaaacagagccGcacgttctggctggcaccgc	9	16	2	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr4:183696162G>A	uc003ivd.1	+	23	5197	c.5160G>A	c.(5158-5160)CCG>CCA	p.P1720P		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1720	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AAACAGAGCCGCACGTTCTGG	0.493													A	183696162	G	A	183696162	2	1	135	1	0	0	0	0	0	0	0	1	10836	1074	38	1		1	ODZ3	4	183696162	Silent	SNP	G	TCGA-CD-5800-01A-11D-1600-08	12782826	183696162	7458114	45	78690											
TERT	7015	broad.mit.edu	37	chr5	1264673	1264673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcttccgcaagttcaccaCgcagccatactcagggacac	8	15	3	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr5:1264673C>T	uc003jcb.1	-	11	2747	c.2689G>A	c.(2689-2691)GTG>ATG	p.V897M	TERT_uc003jbz.1_Missense_Mutation_p.V93M|TERT_uc003jca.1_Missense_Mutation_p.V885M|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	897	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AAGTTCACCACGCAGCCATAC	0.622									TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic				T	1264673	C	T	1264673	3	4	135	1	0	0	0	0	1	0	0	0	15761	536	19	1	733	1	TERT	5	1264673	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08		1264673	179650587	46	78691											
KIAA0947	23379	broad.mit.edu	37	chr5	5461956	5461956	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaccaacacccaagcctgatCttcttagagaaaataacaat	5	11	2	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr5:5461956C>T	uc003jdm.3	+	13	2731	c.2509C>T	c.(2509-2511)CTT>TTT	p.L837F		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	837										ovary(1)|central_nervous_system(1)	2						CAAGCCTGATCTTCTTAGAGA	0.403													T	5461956	C	T	5461956	3	4	135	1	0	0	0	0	1	0	0	0	8202	913	32	4	2559	4	KIAA0947	5	5461956	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	4197283	5461956	175453304	47	78692											
DNAH5	1767	broad.mit.edu	37	chr5	13754330	13754330	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctacaagtcttttagtttGtgcagcaaactcttggcttt	7	9	2	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr5:13754330G>A	uc003jfd.2	-	62	10579	c.10537C>T	c.(10537-10539)CAA>TAA	p.Q3513*	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3513					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)					CTTTTAGTTTGTGCAGCAAAC	0.393									Kartagener_syndrome				A	13754330	G	A	13754330	4	1	135	1	0	0	0	0	0	1	0	0	4604	1386	48	4	3409	4	DNAH5	5	13754330	Nonsense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	8292374	13754330	167160930	48	78693											
CCNH	902	broad.mit.edu	37	chr5	86700776	86700776	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aattctattaagaaagtcatCagctgttttcctcaaaatct	4	8	5	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr5:86700776C>T	uc003kjb.2	-	5	806	c.574G>A	c.(574-576)GAT>AAT	p.D192N	CCNH_uc003kiy.1_Intron|CCNH_uc003kiz.1_Missense_Mutation_p.D139N|CCNH_uc003kja.2_Missense_Mutation_p.D139N	NM_001239	NP_001230	P51946	CCNH_HUMAN	cyclin H	192					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			ovary(2)|kidney(1)	3		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		AGAAAGTCATCAGCTGTTTTC	0.408								Direct_reversal_of_damage|NER					T	86700776	C	T	86700776	3	4	135	1	0	0	0	0	1	0	0	0	2925	826	29	4	417	4	CCNH	5	86700776	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	72946446	86700776	94214484	49	78694											
SRFBP1	153443	broad.mit.edu	37	chr5	121356468	121356468	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagaatcagtgtttttccaCtctttatctggatctaaaag	6	7	4	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr5:121356468C>T	uc003kst.1	+	6	1110	c.1038C>T	c.(1036-1038)CAC>CAT	p.H346H		NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm					0		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TGTTTTTCCACTCTTTATCTG	0.313													T	121356468	C	T	121356468	2	4	135	1	0	0	0	0	0	0	0	1	15143	564	20	4		4	SRFBP1	5	121356468	Silent	SNP	C	TCGA-CD-5800-01A-11D-1600-08	34655692	121356468	59558792	50	78695											
PCDHB6	56130	broad.mit.edu	37	chr5	140530019	140530019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgggggagctggcttcgCggggcgctcgggttgttttc	21	8	0	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr5:140530019C>T	uc003lir.2	+	1	181	c.181C>T	c.(181-183)CGG>TGG	p.R61W	PCDHB6_uc011dah.1_Intron	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	61	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGCTTCGCGGGGCGCTCG	0.507													T	140530019	C	T	140530019	3	4	135	1	0	0	0	0	1	0	0	0	11546	759	27	1	183	1	PCDHB6	5	140530019	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	19173551	140530019	40385241	51	78696											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725213	140725213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgacagccagcgacagcgGgaaccctccactcagcagca	12	15	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr5:140725213G>A	uc003ljm.1	+	1	1613	c.1613G>A	c.(1612-1614)GGG>GAG	p.G538E	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.G298E|PCDHGA3_uc011dap.1_Missense_Mutation_p.G538E	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	538	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGACAGCGGGAACCCTCCA	0.572													A	140725213	G	A	140725213	3	1	135	1	0	0	0	0	1	0	0	0	11555	1232	43	4	1615	4	PCDHGA3	5	140725213	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	195194	140725213	40190047	52	78697											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755983	140755983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcccaactatgccgacaCgcttatcaaccaggagagct	8	15	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr5:140755983C>T	uc003ljy.1	+	1	2333	c.2333C>T	c.(2332-2334)ACG>ATG	p.T778M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.T778M	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	778	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGCCGACACGCTTATCAAC	0.507													T	140755983	C	T	140755983	3	4	135	1	0	0	0	0	1	0	0	0	11558	536	19	1	2335	1	PCDHGA6	5	140755983	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	30770	140755983	40159277	53	78698											
CSF1R	1436	broad.mit.edu	37	chr5	149447874	149447874	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgaagaggaactcatcCgggggatgcgtgtgggctcc	18	8	1	2	rs145267004		TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr5:149447874C>T	uc003lrl.2	-	10	1725	c.1530G>A	c.(1528-1530)CCG>CCA	p.P510P	CSF1R_uc011dcd.1_Silent_p.P362P|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Silent_p.P510P	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	510	Extracellular (Potential).				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGAACTCATCCGGGGGATGCG	0.458													T	149447874	C	T	149447874	2	4	135	1	0	0	0	0	0	0	0	1	3932	639	23	1		1	CSF1R	5	149447874	Silent	SNP	C	TCGA-CD-5800-01A-11D-1600-08	8691891	149447874	31467386	54	78699											
DNAH8	1769	broad.mit.edu	37	chr6	38702323	38702323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatatagacaatgcagccccGgataaactaaaaggactgtg	9	8	0	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr6:38702323G>A	uc003ooe.1	+	3	633	c.33G>A	c.(31-33)CCG>CCA	p.P11P	DNAH8_uc003ood.1_Silent_p.P228P	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8									p.P11P(1)		skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						ATGCAGCCCCGGATAAACTAA	0.353													A	38702323	G	A	38702323	2	1	135	1	0	0	0	0	0	0	0	1	4607	1103	39	1		1	DNAH8	6	38702323	Silent	SNP	G	TCGA-CD-5800-01A-11D-1600-08		38702323	132412744	55	78700											
PGC	5225	broad.mit.edu	37	chr6	41711094	41711094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccattggtggagtaggtgGacgactcgctggggttgaag	18	7	0	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr6:41711094G>A	uc003ora.1	-	4	411	c.362C>T	c.(361-363)TCC>TTC	p.S121F		NM_002630	NP_002621	P20142	PEPC_HUMAN	progastricsin (pepsinogen C) precursor	121					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity				0	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GGAGTAGGTGGACGACTCGCT	0.642													A	41711094	G	A	41711094	3	1	135	1	0	0	0	0	1	0	0	0	11785	1174	41	4	1137	4	PGC	6	41711094	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	3008771	41711094	129403973	56	78701											
CD164	8763	broad.mit.edu	37	chr6	109691643	109691643	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taactgtcttggaagttgtaGaaggggagggctgaactgtg	16	4	1	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr6:109691643G>A	uc003pte.2	-	5	579	c.398C>T	c.(397-399)TCT>TTT	p.S133F	CD164_uc003ptd.2_Missense_Mutation_p.S133F|CD164_uc003ptf.2_Intron|CD164_uc011eap.1_Missense_Mutation_p.S133F|CD164_uc010kdn.2_Missense_Mutation_p.S120F	NM_006016	NP_006007	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin isoform 1	133	Thr-rich.|Extracellular (Potential).				hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding				0		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		GGAAGTTGTAGAAGGGGAGGG	0.378													A	109691643	G	A	109691643	3	1	135	1	0	0	0	0	1	0	0	0	2969	942	33	4	254	4	CD164	6	109691643	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	67980549	109691643	61423424	57	78702											
SYNE1	23345	broad.mit.edu	37	chr6	152642497	152642497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccattttttcaatgttctgtCggtgatttgtggcttctgtt	9	7	3	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr6:152642497C>T	uc010kiw.2	-	84	16714	c.16112G>A	c.(16111-16113)CGA>CAA	p.R5371Q	SYNE1_uc003qot.3_Missense_Mutation_p.R5300Q|SYNE1_uc003qou.3_Missense_Mutation_p.R5371Q|SYNE1_uc010kiz.2_Missense_Mutation_p.R1126Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5371	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)		AATGTTCTGTCGGTGATTTGT	0.393										HNSCC(10;0.0054)			T	152642497	C	T	152642497	3	4	135	1	0	0	0	0	1	0	0	0	15442	884	31	1	10606	1	SYNE1	6	152642497	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	42950854	152642497	18472570	58	78703											
ADAP1	11033	broad.mit.edu	37	chr7	944770	944770	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccggctcaaaaactgcccgTtgtcccggccacgcttccag	9	17	1	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr7:944770T>G	uc003sjo.3	-	5	604	c.428A>C	c.(427-429)AAC>ACC	p.N143T	ADAP1_uc003sjm.3_5'UTR|ADAP1_uc011jvs.1_Missense_Mutation_p.N48T|ADAP1_uc003sjn.3_Missense_Mutation_p.N71T|ADAP1_uc010ksc.2_Missense_Mutation_p.N71T	NM_006869	NP_006860	O75689	ADAP1_HUMAN	centaurin, alpha 1	143	PH 1.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			upper_aerodigestive_tract(1)	1						AAACTGCCCGTTGTCCCGGCC	0.562													G	944770	T	G	944770	3	3	135	1	0	0	0	0	1	0	0	0	279	1725	60	5	724	5	ADAP1	7	944770	Missense_Mutation	SNP	T	TCGA-CD-5800-01A-11D-1600-08		944770	158193893	59	78704											
HIBADH	11112	broad.mit.edu	37	chr7	27672037	27672037	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aataattctgtcagctttttCagcaacatctgctggggaag	9	8	4	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr7:27672037C>T	uc003szf.2	-	3	475	c.280G>A	c.(280-282)GAA>AAA	p.E94K	HIBADH_uc003szg.2_Missense_Mutation_p.E45K|HIBADH_uc003szh.2_5'UTR|HIBADH_uc003szi.2_Missense_Mutation_p.E45K	NM_152740	NP_689953	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase precursor	94					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			ovary(2)	2			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	TCAGCTTTTTCAGCAACATCT	0.363													T	27672037	C	T	27672037	3	4	135	1	0	0	0	0	1	0	0	0	7099	835	29	4	754	4	HIBADH	7	27672037	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	26727267	27672037	131466626	60	78705											
EEPD1	80820	broad.mit.edu	37	chr7	36194426	36194426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagcatcgtggacttcCgccgtgagcatgggcccttt	11	15	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr7:36194426C>T	uc003tfa.2	+	2	1133	c.493C>T	c.(493-495)CGC>TGC	p.R165C		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	165					DNA repair		DNA binding				0						CGTGGACTTCCGCCGTGAGCA	0.607													T	36194426	C	T	36194426	3	4	135	1	0	0	0	0	1	0	0	0	4932	652	23	1	495	1	EEPD1	7	36194426	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	8522389	36194426	122944237	61	78706											
C7orf42	55069	broad.mit.edu	37	chr7	66410149	66410149	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtgaatatctcagtctcaAtcaccctaaccctggaccca	6	15	3	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr7:66410149A>G	uc003tvk.2	+	3	610	c.346A>G	c.(346-348)ATC>GTC	p.I116V	C7orf42_uc010lah.2_RNA|C7orf42_uc003tvl.2_Missense_Mutation_p.I116V	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN	hypothetical protein LOC55069	116						integral to membrane				ovary(1)	1						CTCAGTCTCAATCACCCTAAC	0.577													G	66410149	A	G	66410149	3	3	135	1	0	0	0	0	1	0	0	0	2392	101	4	3	352	3	C7orf42	7	66410149	Missense_Mutation	SNP	A	TCGA-CD-5800-01A-11D-1600-08	30215723	66410149	92728514	62	78707											
HGF	3082	broad.mit.edu	37	chr7	81372669	81372669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatttgaccttcacttacCgcatgttttaattgcacagt	5	9	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr7:81372669C>T	uc003uhl.2	-	7	1030	c.865G>A	c.(865-867)GCT>ACT	p.A289T	HGF_uc003uhm.2_Missense_Mutation_p.A284T|HGF_uc003uhn.1_Missense_Mutation_p.E289K|HGF_uc003uho.1_Missense_Mutation_p.E284K	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	289					epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						CTTCACTTACCGCATGTTTTA	0.448													T	81372669	C	T	81372669	3	4	135	1	0	0	0	0	1	0	0	0	7085	666	23	1	1381	1	HGF	7	81372669	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	14962520	81372669	77765994	63	78708											
MGC26647	219557	broad.mit.edu	37	chr7	88423644	88423644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgggaggagtaggtcagGtgcaacttggtgtaagttat	15	4	2	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr7:88423644G>A	uc003ujv.2	-	2	795	c.613C>T	c.(613-615)CCT>TCT	p.P205S	ZNF804B_uc011khi.1_Intron	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	hypothetical protein LOC219557	205											0	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		STAD - Stomach adenocarcinoma(171;0.229)			AGTAGGTCAGGTGCAACTTGG	0.408													A	88423644	G	A	88423644	3	1	135	1	0	0	0	0	1	0	0	0	9550	1261	44	4	152	4	MGC26647	7	88423644	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	7050975	88423644	70715019	64	78709											
CDHR3	222256	broad.mit.edu	37	chr7	105658403	105658403	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccagtatccaaatgtattttGgattaatcccaagacaggag	8	8	0	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr7:105658403G>C	uc003vdl.3	+	12	1646	c.1538G>C	c.(1537-1539)TGG>TCG	p.W513S	CDHR3_uc003vdk.2_Intron|CDHR3_uc003vdm.3_Missense_Mutation_p.W500S|CDHR3_uc011klt.1_Missense_Mutation_p.W425S|CDHR3_uc003vdn.2_Intron	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	513	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						AATGTATTTTGGATTAATCCC	0.512													C	105658403	G	C	105658403	3	2	135	1	0	0	0	0	1	0	0	0	3120	1357	47	5	1584	5	CDHR3	7	105658403	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	17234759	105658403	53480260	65	78710											
PIK3CG	5294	broad.mit.edu	37	chr7	106508257	106508257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctggagaccagcgtggCggcggacttctaccaccggc	15	14	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr7:106508257C>T	uc003vdv.3	+	2	336	c.251C>T	c.(250-252)GCG>GTG	p.A84V	PIK3CG_uc003vdu.2_Missense_Mutation_p.A84V|PIK3CG_uc003vdw.2_Missense_Mutation_p.A84V	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	84					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						ACCAGCGTGGCGGCGGACTTC	0.637													T	106508257	C	T	106508257	3	4	135	1	0	0	0	0	1	0	0	0	11916	768	27	1	253	1	PIK3CG	7	106508257	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	849854	106508257	52630406	66	78711											
HBP1	26959	broad.mit.edu	37	chr7	106836508	106836508	+	Frame_Shift_Del	DEL	A	A	-													tgagtgccacttctcctaatAagtgcaaaagaccaatgaat							TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr7:106836507_106836507TA>T	uc003vdy.3	+	8	1482	c.1296_1296TA>T	c.(1294-1296)aatfs	p.N432fs	HBP1_uc011klv.2_Frame_Shift_Del_p.N442fs|HBP1_uc003vdz.3_Frame_Shift_Del_p.N432fs|HBP1_uc003vea.3_Frame_Shift_Del_p.N432fs|HBP1_uc003veb.1_Frame_Shift_Del_p.N432fs	NM_012257	NP_036389	O60381	HBP1_HUMAN	Homo sapiens HMG-box transcription factor 1 (HBP1), transcript variant 2, mRNA.	432					Wnt receptor signaling pathway|cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						CTTCTCCTAATAAGTGCAAAA	0.403													-	106836508	A	-	106836508	7	5	135	1	0	1	0	1	0	0	0	0	6985	363	13	0	1327	0	HBP1	7	106836508	Frame_Shift_Del	DEL	A	TCGA-CD-5800-01A-11D-1600-08	328251	106836508	52302155	67	78712											
IMPDH1	3614	broad.mit.edu	37	chr7	128038597	128038597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggccagagggtagtctcgGttcttcttcaggtcggtgcg	16	9	4	1	rs1042253		TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr7:128038597G>A	uc011kol.1	-	7	796	c.690C>T	c.(688-690)AAC>AAT	p.N230N	IMPDH1_uc011kom.1_Silent_p.N225N|IMPDH1_uc003vmt.2_Silent_p.N205N|IMPDH1_uc003vmu.2_Silent_p.N315N|IMPDH1_uc003vmw.2_Silent_p.N305N|IMPDH1_uc011kon.1_Silent_p.N282N|IMPDH1_uc003vmv.2_Silent_p.N279N|IMPDH1_uc003vmx.2_Silent_p.N238N|IMPDH1_uc003vmy.2_Silent_p.N246N	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	inosine monophosphate dehydrogenase 1 isoform e	230	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			skin(2)|lung(1)|central_nervous_system(1)	4					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	GGTAGTCTCGGTTCTTCTTCA	0.572											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	128038597	G	A	128038597	2	1	135	1	0	0	0	0	0	0	0	1	7726	1252	44	4		4	IMPDH1	7	128038597	Silent	SNP	G	TCGA-CD-5800-01A-11D-1600-08	21202089	128038597	31100066	68	78713											
C7orf49	78996	broad.mit.edu	37	chr7	134852517	134852517	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccagagcaacatcaactatCtcagcctcattcatgcagta	5	14	4	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr7:134852517C>T	uc003vsl.2	-	3	447	c.180G>A	c.(178-180)GAG>GAA	p.E60E	C7orf49_uc003vsh.2_Intron|C7orf49_uc003vsj.2_Silent_p.E31E|C7orf49_uc003vsk.2_RNA|C7orf49_uc003vsm.2_RNA|C7orf49_uc003vsn.2_Silent_p.E59E|C7orf49_uc003vso.2_Silent_p.E5E	NM_024033	NP_076938	Q9BWK5	MRI_HUMAN	modulator of retrovirus infection	60						cytoplasm				large_intestine(1)|ovary(1)	2						CATCAACTATCTCAGCCTCAT	0.478													T	134852517	C	T	134852517	2	4	135	1	0	0	0	0	0	0	0	1	2398	912	32	4		4	C7orf49	7	134852517	Silent	SNP	C	TCGA-CD-5800-01A-11D-1600-08	6813920	134852517	24286146	69	78714											
TAS2R4	50832	broad.mit.edu	37	chr7	141478883	141478883	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtgacttctgcttccttgCtaatacactccttgaggaga	8	10	1	3			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr7:141478883C>A	uc003vwq.1	+	1	595	c.595C>A	c.(595-597)CTA>ATA	p.L199I		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	taste receptor T2R4	199	Cytoplasmic (Potential).				sensory perception of taste	cilium membrane	taste receptor activity				0	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TGCTTCCTTGCTAATACACTC	0.423													A	141478883	C	A	141478883	3	1	135	1	0	0	0	0	1	0	0	0	15574	796	28	5	597	5	TAS2R4	7	141478883	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	6626366	141478883	17659780	70	78715											
SHH	6469	broad.mit.edu	37	chr7	155596246	155596246	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagaccttcttggcgccgTcgtcgcggtccaggaaagtg	14	11	1	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr7:155596246T>C	uc003wmk.1	-	3	888	c.737A>G	c.(736-738)GAC>GGC	p.D246G	SHH_uc003wmh.1_Intron|SHH_uc003wmi.1_Intron|SHH_uc003wmj.1_Missense_Mutation_p.D159G	NM_000193	NP_000184	Q15465	SHH_HUMAN	sonic hedgehog preproprotein	246					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|lung(1)	4	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTGGCGCCGTCGTCGCGGTC	0.687													C	155596246	T	C	155596246	3	2	135	1	0	0	0	0	1	0	0	0	14279	1667	58	3	655	3	SHH	7	155596246	Missense_Mutation	SNP	T	TCGA-CD-5800-01A-11D-1600-08	14117363	155596246	3542417	71	78716											
PTPRN2	5799	broad.mit.edu	37	chr7	157874021	157874021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacatcctcagtggtcacGttttggacattggcgctcac	9	13	3	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr7:157874021G>A	uc003wno.2	-	11	1813	c.1692C>T	c.(1690-1692)AAC>AAT	p.N564N	PTPRN2_uc003wnp.2_Silent_p.N547N|PTPRN2_uc003wnq.2_Silent_p.N535N|PTPRN2_uc003wnr.2_Silent_p.N526N|PTPRN2_uc011kwa.1_Silent_p.N587N	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	564	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CAGTGGTCACGTTTTGGACAT	0.363													A	157874021	G	A	157874021	2	1	135	1	0	0	0	0	0	0	0	1	12808	1136	40	1		1	PTPRN2	7	157874021	Silent	SNP	G	TCGA-CD-5800-01A-11D-1600-08	2277775	157874021	1264642	72	78717											
RP1	6101	broad.mit.edu	37	chr8	55534700	55534700	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccagcctccaggcagtgatCctgagctctggagctgtggt	13	13	1	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr8:55534700C>T	uc003xsd.1	+	3	787	c.639C>T	c.(637-639)ATC>ATT	p.I213I	RP1_uc011ldy.1_Silent_p.I213I	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	213	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGGCAGTGATCCTGAGCTCTG	0.438													T	55534700	C	T	55534700	2	4	135	1	0	0	0	0	0	0	0	1	13532	845	30	4		4	RP1	8	55534700	Silent	SNP	C	TCGA-CD-5800-01A-11D-1600-08		55534700	90829322	73	78718											
RP1	6101	broad.mit.edu	37	chr8	55539117	55539117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaacatgctacaaccagggCaaattctttagcttctttga	6	10	2	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr8:55539117C>T	uc003xsd.1	+	4	2823	c.2675C>T	c.(2674-2676)GCA>GTA	p.A892V	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	892					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACAACCAGGGCAAATTCTTTA	0.333													T	55539117	C	T	55539117	3	4	135	1	0	0	0	0	1	0	0	0	13532	710	25	2	2685	2	RP1	8	55539117	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	4417	55539117	90824905	74	78719											
CHD7	55636	broad.mit.edu	37	chr8	61765949	61765949	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgaactgaaaggtgttgAggtcggcgcagacactgggt	15	6	0	4			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr8:61765949A>G	uc003xue.2	+	31	7142	c.6665A>G	c.(6664-6666)GAG>GGG	p.E2222G		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2222	Glu-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAAGGTGTTGAGGTCGGCGCA	0.502													G	61765949	A	G	61765949	3	3	135	1	0	0	0	0	1	0	0	0	3330	304	11	3	6783	3	CHD7	8	61765949	Missense_Mutation	SNP	A	TCGA-CD-5800-01A-11D-1600-08	6226832	61765949	84598073	75	78720											
MTFR1	9650	broad.mit.edu	37	chr8	66631645	66631645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctttattcagccccacGtgtccaagcattgtctggga	10	12	2	0	rs143063031		TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr8:66631645G>A	uc003xvo.1	+	7	1044	c.934G>A	c.(934-936)GTG>ATG	p.V312M	PDE7A_uc003xvq.2_Silent_p.H443H|PDE7A_uc003xvp.2_Silent_p.H417H	NM_014637	NP_055452	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1 isoform 1	Error:Variant_position_missing_in_Q15390_after_alignment						mitochondrion|plasma membrane				pancreas(1)	1			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TCAGCCCCACGTGTCCAAGCA	0.458													A	66631645	G	A	66631645	3	1	135	1	0	0	0	0	1	0	0	0	9925	1136	40	1		1	MTFR1	8	66631645	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	4865696	66631645	79732377	76	78721											
DNAJC5B	85479	broad.mit.edu	37	chr8	66989024	66989024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagcatatacgacaagtaCggatcgctgggactctacgt	11	9	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr8:66989024C>T	uc003xvs.1	+	4	540	c.249C>T	c.(247-249)TAC>TAT	p.Y83Y	DNAJC5B_uc003xvt.1_RNA	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	83	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding				0		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			ACGACAAGTACGGATCGCTGG	0.463													T	66989024	C	T	66989024	2	4	135	1	0	0	0	0	0	0	0	1	4651	547	19	1		1	DNAJC5B	8	66989024	Silent	SNP	C	TCGA-CD-5800-01A-11D-1600-08	357379	66989024	79374998	77	78722											
TRIM55	84675	broad.mit.edu	37	chr8	67049353	67049353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctcagtgatggcatcgcCatcctcgtgggcagcaacga	13	12	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr8:67049353C>T	uc003xvv.2	+	4	757	c.531C>T	c.(529-531)GCC>GCT	p.A177A	TRIM55_uc003xvu.2_Silent_p.A177A|TRIM55_uc003xvw.2_Silent_p.A177A|TRIM55_uc003xvx.2_Silent_p.A177A	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	177	Potential.					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			ATGGCATCGCCATCCTCGTGG	0.507													T	67049353	C	T	67049353	2	4	135	1	0	0	0	0	0	0	0	1	16526	581	21	4		4	TRIM55	8	67049353	Silent	SNP	C	TCGA-CD-5800-01A-11D-1600-08	60329	67049353	79314669	78	78723											
ZFHX4	79776	broad.mit.edu	37	chr8	77765033	77765033	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaattgttttccaatgttcTtattttaaagagtcaccaag	5	6	2	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr8:77765033T>G	uc003yav.2	+	10	6128	c.5741T>G	c.(5740-5742)CTT>CGT	p.L1914R	ZFHX4_uc003yau.1_Missense_Mutation_p.L1959R|ZFHX4_uc003yaw.1_Missense_Mutation_p.L1914R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1914	C2H2-type 14.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCAATGTTCTTATTTTAAAG	0.398										HNSCC(33;0.089)			G	77765033	T	G	77765033	3	3	135	1	0	0	0	0	1	0	0	0	17632	1609	56	5	5910	5	ZFHX4	8	77765033	Missense_Mutation	SNP	T	TCGA-CD-5800-01A-11D-1600-08	10715680	77765033	68598989	79	78724											
CA13	377677	broad.mit.edu	37	chr8	86171655	86171655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgttgttgtttagttctgCgtggtggtcctctcactgga	12	8	2	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr8:86171655C>T	uc003ydg.2	+	3	583	c.241C>T	c.(241-243)CGT>TGT	p.R81C	CA13_uc003ydf.1_RNA	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	81					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0						TTTAGTTCTGCGTGGTGGTCC	0.458													T	86171655	C	T	86171655	3	4	135	1	0	0	0	0	1	0	0	0	2514	768	27	1	251	1	CA13	8	86171655	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	8406622	86171655	60192367	80	78725											
SLC26A7	115111	broad.mit.edu	37	chr8	92352728	92352728	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctatgtggcctcactggcTcttgctcaaggatctgccaa	11	12	4	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr8:92352728T>C	uc003yex.2	+	9	1253	c.975T>C	c.(973-975)GCT>GCC	p.A325A	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Silent_p.A325A|SLC26A7_uc003yfa.2_Silent_p.A325A	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	325	Helical; (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CCTCACTGGCTCTTGCTCAAG	0.502													C	92352728	T	C	92352728	2	2	135	1	0	0	0	0	0	0	0	1	14522	1538	54	3		3	SLC26A7	8	92352728	Silent	SNP	T	TCGA-CD-5800-01A-11D-1600-08	6181073	92352728	54011294	81	78726											
KCNK9	51305	broad.mit.edu	37	chr8	140630698	140630698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctgcggtgccaccgagcGgccgccatagtcctgcgagc	14	15	1	0	rs145490321		TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr8:140630698G>A	uc003yvf.1	-	2	992	c.928C>T	c.(928-930)CGC>TGC	p.R310C	KCNK9_uc003yvg.1_Missense_Mutation_p.R310C|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	310	Cytoplasmic (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GCCACCGAGCGGCCGCCATAG	0.622													A	140630698	G	A	140630698	3	1	135	1	0	0	0	0	1	0	0	0	8072	1116	39	1	200	1	KCNK9	8	140630698	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	48277970	140630698	5733324	82	78727											
OR13C4	138804	broad.mit.edu	37	chr9	107289090	107289090	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaccaccttgttcatgatgAtggggtatctcagagggtta	11	8	2	3			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr9:107289090A>G	uc011lvn.1	-	1	401	c.401T>C	c.(400-402)ATC>ACC	p.I134T		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	134	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GTTCATGATGATGGGGTATCT	0.453													G	107289090	A	G	107289090	3	3	135	1	0	0	0	0	1	0	0	0	10936	333	12	3	557	3	OR13C4	9	107289090	Missense_Mutation	SNP	A	TCGA-CD-5800-01A-11D-1600-08		107289090	33924341	83	78728											
OR13D1	286365	broad.mit.edu	37	chr9	107457263	107457263	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggatcataggctgtctgacCtccctattgcaaacagttct	8	11	3	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr9:107457263C>A	uc011lvs.1	+	1	561	c.561C>A	c.(559-561)ACC>ACA	p.T187T		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D,	187	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GCTGTCTGACCTCCCTATTGC	0.438													A	107457263	C	A	107457263	2	1	135	1	0	0	0	0	0	0	0	1	10940	668	24	5		5	OR13D1	9	107457263	Silent	SNP	C	TCGA-CD-5800-01A-11D-1600-08	168173	107457263	33756168	84	78729											
SURF2	6835	broad.mit.edu	37	chr9	136227269	136227269	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccactgatgagagcaggagaGagacgaccgtgtaccgaggg	16	9	0	4			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr9:136227269G>A	uc004cdi.2	+	5	694	c.646G>A	c.(646-648)GAG>AAG	p.E216K		NM_017503	NP_059973	Q15527	SURF2_HUMAN	surfeit 2	216							protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		GAGCAGGAGAGAGACGACCGT	0.552													A	136227269	G	A	136227269	3	1	135	1	0	0	0	0	1	0	0	0	15401	943	33	4	664	4	SURF2	9	136227269	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	28770006	136227269	4986162	85	78730											
SEC16A	9919	broad.mit.edu	37	chr9	139342536	139342536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtatttgacagcactcacCgatttgttcttgtcatctgg	9	10	4	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr9:139342536C>T	uc004chx.2	-	24	6699	c.6390G>A	c.(6388-6390)TCG>TCA	p.S2130S	SEC16A_uc004chp.2_5'Flank|SEC16A_uc004chq.2_5'Flank|SEC16A_uc011mea.1_5'Flank|SEC16A_uc004chr.2_Silent_p.S136S|SEC16A_uc004chs.2_5'UTR|SEC16A_uc004cht.2_Silent_p.S161S|SEC16A_uc004chu.2_Silent_p.S315S|SEC16A_uc004chv.3_Silent_p.S1520S|SEC16A_uc004chw.2_Silent_p.S2130S|SEC16A_uc010nbn.2_Silent_p.S2130S	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1952	Required for interaction with SEC23A.|Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CAGCACTCACCGATTTGTTCT	0.388													T	139342536	C	T	139342536	2	4	135	1	0	0	0	0	0	0	0	1	13986	666	23	1		1	SEC16A	9	139342536	Silent	SNP	C	TCGA-CD-5800-01A-11D-1600-08	3115267	139342536	1870895	86	78731											
ITIH2	3698	broad.mit.edu	37	chr10	7759715	7759715	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggctcctatgagcacaggatCtatctgcaacctggacggct	11	12	2	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr10:7759715C>T	uc001ijs.2	+	6	756	c.594C>T	c.(592-594)ATC>ATT	p.I198I		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	198					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3						AGCACAGGATCTATCTGCAAC	0.507													T	7759715	C	T	7759715	2	4	135	1	0	0	0	0	0	0	0	1	7904	903	32	4		4	ITIH2	10	7759715	Silent	SNP	C	TCGA-CD-5800-01A-11D-1600-08		7759715	127775032	87	78732											
PGBD3	267004	broad.mit.edu	37	chr10	50732318	50732318	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctctgccccctccacctcGtcatcttcctcctcttcctc	3	23	4	0	rs141391984	byFrequency	TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr10:50732318G>A	uc001jht.2	-	1	9	c.-246C>T	c.(-248--244)GACGA>GATGA		ERCC6_uc001jhs.3_Silent_p.D386D|PGBD3_uc009xoe.2_Silent_p.D386D|PGBD3_uc001jhu.2_Silent_p.D386D	NM_170753	NP_736609	Q8N328	PGBD3_HUMAN	hypothetical protein LOC267004											pancreas(1)|breast(1)|skin(1)	3						cctccacctcgtcatcttcct	0.423													A	50732318	G	A	50732318	1	1	135	1	0	0	0	0	0	0	0	0	11782	1136	40	1		1	PGBD3	10	50732318	Translation_Start_Site	SNP	G	TCGA-CD-5800-01A-11D-1600-08	42972603	50732318	84802429	88	78733											
A1CF	29974	broad.mit.edu	37	chr10	52603780	52603780	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtataagctcatcctcaaAaaggtctcggggaagttttc	10	8	3	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr10:52603780A>C	uc001jjj.2	-	4	390	c.202T>G	c.(202-204)TTT>GTT	p.F68V	A1CF_uc010qhn.1_Missense_Mutation_p.F76V|A1CF_uc001jji.2_Missense_Mutation_p.F68V|A1CF_uc001jjh.2_Missense_Mutation_p.F76V|A1CF_uc010qho.1_Missense_Mutation_p.F76V|A1CF_uc009xov.2_Missense_Mutation_p.F68V|A1CF_uc001jjk.1_Missense_Mutation_p.F68V	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	apobec-1 complementation factor isoform 2	68	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			central_nervous_system(1)	1						TCATCCTCAAAAAGGTCTCGG	0.393													C	52603780	A	C	52603780	3	2	135	1	0	0	0	0	1	0	0	0	2	14	1	5	1622	5	A1CF	10	52603780	Missense_Mutation	SNP	A	TCGA-CD-5800-01A-11D-1600-08	1871462	52603780	82930967	89	78734											
RUFY2	55680	broad.mit.edu	37	chr10	70143864	70143864	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attttcacttcgtaattgatGattttcttcctggagtttaa	6	6	2	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr10:70143864G>A	uc001job.2	-	9	1198	c.871C>T	c.(871-873)CAT>TAT	p.H291Y	RUFY2_uc001jnz.1_RNA|RUFY2_uc001joc.2_Missense_Mutation_p.H222Y|RUFY2_uc010qiw.1_Missense_Mutation_p.H198Y|RUFY2_uc001jod.1_Missense_Mutation_p.H256Y|RUFY2_uc009xpv.1_Missense_Mutation_p.H139Y	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain-containing 2 isoform a	305	Potential.					nucleus	metal ion binding			ovary(1)	1						CGTAATTGATGATTTTCTTCC	0.318													A	70143864	G	A	70143864	3	1	135	1	0	0	0	0	1	0	0	0	13739	1290	45	4	1207	4	RUFY2	10	70143864	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	17540084	70143864	65390883	90	78735											
BLNK	29760	broad.mit.edu	37	chr10	97983645	97983645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcaaagcagtcagggcCggcagggtggaggtgagcct	17	9	2	1	rs149698554		TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr10:97983645C>T	uc001kls.3	-	6	640	c.462G>A	c.(460-462)CCG>CCA	p.P154P	BLNK_uc001kme.3_Silent_p.P72P|BLNK_uc001klt.3_Silent_p.P68P|BLNK_uc009xvc.2_Intron|BLNK_uc001klu.3_Silent_p.P72P|BLNK_uc001klv.3_Intron|BLNK_uc001klw.3_RNA|BLNK_uc001klx.3_Silent_p.P154P|BLNK_uc001kly.3_Silent_p.P154P|BLNK_uc001klz.3_Intron|BLNK_uc001kma.3_Silent_p.P154P|BLNK_uc001kmb.3_Intron|BLNK_uc001kmc.3_RNA|BLNK_uc001kmd.3_Silent_p.P72P|BLNK_uc009xvd.2_Intron	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	B-cell linker isoform 1	154	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			skin(2)	2		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CAGTCAGGGCCGGCAGGGTGG	0.547													T	97983645	C	T	97983645	2	4	135	1	0	0	0	0	0	0	0	1	1447	639	23	1		1	BLNK	10	97983645	Silent	SNP	C	TCGA-CD-5800-01A-11D-1600-08	27839781	97983645	37551102	91	78736											
HPS1	3257	broad.mit.edu	37	chr10	100183378	100183378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacaccatggtgatgttcCtcctgctcttcaccagcaag	8	13	2	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr10:100183378C>T	uc010qpf.1	-	16	1826	c.1580G>A	c.(1579-1581)AGG>AAG	p.R527K	HPS1_uc001kpi.1_Missense_Mutation_p.R527K|HPS1_uc001kpj.1_Missense_Mutation_p.R434K|HPS1_uc001kpk.1_Missense_Mutation_p.R351K|HPS1_uc010qpg.1_Missense_Mutation_p.R147K|HPS1_uc009xwb.2_RNA	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1 protein isoform a	527					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			skin(1)	1		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		GGTGATGTTCCTCCTGCTCTT	0.617									Hermansky-Pudlak_syndrome				T	100183378	C	T	100183378	3	4	135	1	0	0	0	0	1	0	0	0	7339	681	24	4	542	4	HPS1	10	100183378	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	2199733	100183378	35351369	92	78737											
ABLIM1	3983	broad.mit.edu	37	chr10	116361626	116361626	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atgtggaaatgtttggtctgGacccgaagcacttcaccctt	10	10	2	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr10:116361626G>C	uc010qsg.1	-	2	438	c.339C>G	c.(337-339)GTC>GTG	p.V113V	ABLIM1_uc010qsh.1_Silent_p.V53V|ABLIM1_uc010qsi.1_Silent_p.V53V|ABLIM1_uc010qsk.1_Silent_p.V37V|ABLIM1_uc009xyp.2_Silent_p.V47V|ABLIM1_uc001lbz.1_Silent_p.V36V	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	113	LIM zinc-binding 1.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GTTTGGTCTGGACCCGAAGCA	0.557													C	116361626	G	C	116361626	2	2	135	1	0	0	0	0	0	0	0	1	94	1161	41	5		5	ABLIM1	10	116361626	Silent	SNP	G	TCGA-CD-5800-01A-11D-1600-08	16178248	116361626	19173121	93	78738											
KNDC1	85442	broad.mit.edu	37	chr10	135015105	135015105	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcactgtcacggggaaacttCgaggtggggtttcggcctca	15	10	2	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr10:135015105C>T	uc001llz.1	+	17	3091	c.3090C>T	c.(3088-3090)TTC>TTT	p.F1030F	KNDC1_uc001lma.1_Silent_p.F965F|KNDC1_uc001lmb.1_Silent_p.F442F	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1030					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGGGAAACTTCGAGGTGGGGT	0.657													T	135015105	C	T	135015105	2	4	135	1	0	0	0	0	0	0	0	1	8426	883	31	1		1	KNDC1	10	135015105	Silent	SNP	C	TCGA-CD-5800-01A-11D-1600-08	18653479	135015105	519642	94	78739											
ART1	417	broad.mit.edu	37	chr11	3681342	3681342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggccaccgtgaggctggGgggctttgcttctgcctccc	15	15	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr11:3681342G>A	uc001lye.1	+	3	694	c.593G>A	c.(592-594)GGG>GAG	p.G198E	ART1_uc009yeb.1_Missense_Mutation_p.G198E	NM_004314	NP_004305	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1 precursor	198					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GTGAGGCTGGGGGGCTTTGCT	0.682													A	3681342	G	A	3681342	3	1	135	1	0	0	0	0	1	0	0	0	997	1232	43	4	599	4	ART1	11	3681342	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08		3681342	131325174	95	78740											
OR51M1	390059	broad.mit.edu	37	chr11	5410661	5410661	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tattcgctcagtcctcaattCatgctgctatccaacattac	4	13	3	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr11:5410661C>T	uc010qzc.1	+	1	33	c.33C>T	c.(31-33)TTC>TTT	p.F11F	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M,	11						integral to membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCCTCAATTCATGCTGCTAT	0.398													T	5410661	C	T	5410661	2	4	135	1	0	0	0	0	0	0	0	1	11103	825	29	4		4	OR51M1	11	5410661	Silent	SNP	C	TCGA-CD-5800-01A-11D-1600-08	1729319	5410661	129595855	96	78741											
MICAL2	9645	broad.mit.edu	37	chr11	12241844	12241844	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagactttgccaccaacTaccagctgccatccttagac	6	16	0	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr11:12241844T>A	uc001mjz.2	+	9	1333	c.1045T>A	c.(1045-1047)TAC>AAC	p.Y349N	MICAL2_uc010rch.1_Missense_Mutation_p.Y349N|MICAL2_uc001mka.2_Missense_Mutation_p.Y349N|MICAL2_uc010rci.1_Missense_Mutation_p.Y349N|MICAL2_uc001mkb.2_Missense_Mutation_p.Y349N|MICAL2_uc001mkc.2_Missense_Mutation_p.Y349N|MICAL2_uc001mkd.2_Missense_Mutation_p.Y178N|MICAL2_uc010rcj.1_5'Flank	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	349						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		TGCCACCAACTACCAGCTGCC	0.537													A	12241844	T	A	12241844	3	1	135	1	0	0	0	0	1	0	0	0	9570	1522	53	5	1071	5	MICAL2	11	12241844	Missense_Mutation	SNP	T	TCGA-CD-5800-01A-11D-1600-08	6831183	12241844	122764672	97	78742											
SPTY2D1	144108	broad.mit.edu	37	chr11	18636652	18636652	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacagggccagaactaactGtgggtcgagcaacccctgtg	13	12	0	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr11:18636652G>T	uc001moy.2	-	3	1385	c.1169C>A	c.(1168-1170)ACA>AAA	p.T390K	SPTY2D1_uc010rdi.1_Missense_Mutation_p.T390K	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	390	Ser-rich.									breast(1)	1						AGAACTAACTGTGGGTCGAGC	0.587													T	18636652	G	T	18636652	3	4	135	1	0	0	0	0	1	0	0	0	15125	1377	48	5	904	5	SPTY2D1	11	18636652	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	6394808	18636652	116369864	98	78743											
LIN7C	55327	broad.mit.edu	37	chr11	27520261	27520261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgactccatttcttctaagaCtttgggtgtgtatcgtacca	8	10	2	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr11:27520261C>T	uc001mrl.2	-	5	556	c.529G>A	c.(529-531)GTC>ATC	p.V177I	LIN7C_uc009yii.2_Missense_Mutation_p.V153I	NM_018362	NP_060832	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C	177					exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction					0						TCTTCTAAGACTTTGGGTGTG	0.388													T	27520261	C	T	27520261	3	4	135	1	0	0	0	0	1	0	0	0	8812	565	20	4	68	4	LIN7C	11	27520261	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	8883609	27520261	107486255	99	78744											
KIF18A	81930	broad.mit.edu	37	chr11	28090850	28090850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taagagtcccatttctttttCgacacgatggagccaattag	8	9	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr11:28090850C>T	uc001msc.2	-	11	1728	c.1546G>A	c.(1546-1548)GAA>AAA	p.E516K		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	516					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			ovary(2)	2						ATTTCTTTTTCGACACGATGG	0.388													T	28090850	C	T	28090850	3	4	135	1	0	0	0	0	1	0	0	0	8280	893	31	1	1178	1	KIF18A	11	28090850	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	570589	28090850	106915666	100	78745											
DDB1	1642	broad.mit.edu	37	chr11	61071504	61071504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgtccactcatagagccGcacctgggaagggcattgtc	12	11	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr11:61071504G>A	uc001nrc.3	-	22	2891	c.2665C>T	c.(2665-2667)CGG>TGG	p.R889W	DDB1_uc010rle.1_Missense_Mutation_p.R200W|DDB1_uc010rlf.1_Missense_Mutation_p.R889W	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	889	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						TCATAGAGCCGCACCTGGGAA	0.547								NER					A	61071504	G	A	61071504	3	1	135	1	0	0	0	0	1	0	0	0	4323	1086	38	1	781	1	DDB1	11	61071504	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	32980654	61071504	73935012	101	78746											
CST6	1474	broad.mit.edu	37	chr11	65780867	65780867	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaagcacaactgtgtgcagaTgtgataagtccccgagggcg	13	9	0	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr11:65780867T>A	uc001ogr.2	+	3	500	c.446T>A	c.(445-447)ATG>AAG	p.M149K	CST6_uc001ogs.1_3'UTR	NM_001323	NP_001314	Q15828	CYTM_HUMAN	cystatin M precursor	149					anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1						TGTGTGCAGATGTGATAAGTC	0.562													A	65780867	T	A	65780867	3	1	135	1	0	0	0	0	1	0	0	0	3976	1464	51	5	456	5	CST6	11	65780867	Missense_Mutation	SNP	T	TCGA-CD-5800-01A-11D-1600-08	4709363	65780867	69225649	102	78747											
CPT1A	1374	broad.mit.edu	37	chr11	68566686	68566686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgtgtatacagacttacGtaatttgtagcccaccagga	8	9	0	1	rs146551320		TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr11:68566686G>A	uc001oog.3	-	6	863	c.693C>T	c.(691-693)TAC>TAT	p.Y231Y	CPT1A_uc001oof.3_Silent_p.Y231Y|CPT1A_uc009ysj.2_Silent_p.Y231Y	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	231	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ACAGACTTACGTAATTTGTAG	0.398													A	68566686	G	A	68566686	2	1	135	1	0	0	0	0	0	0	0	1	3831	1159	40	1		1	CPT1A	11	68566686	Silent	SNP	G	TCGA-CD-5800-01A-11D-1600-08	2785819	68566686	66439830	103	78748											
INTS4	92105	broad.mit.edu	37	chr11	77635908	77635908	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtacagcataagagttcatGaagagcctctcgaatatctc	8	9	3	3			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr11:77635908G>A	uc001oys.2	-	12	1430	c.1402C>T	c.(1402-1404)CAT>TAT	p.H468Y	INTS4_uc001oyt.2_RNA|INTS4_uc001oyu.1_Missense_Mutation_p.H468Y	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	468	HEAT 8.				snRNA processing	integrator complex	protein binding			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AAGAGTTCATGAAGAGCCTCT	0.383													A	77635908	G	A	77635908	3	1	135	1	0	0	0	0	1	0	0	0	7780	1290	45	4	1537	4	INTS4	11	77635908	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	9069222	77635908	57370608	104	78749											
DDI1	414301	broad.mit.edu	37	chr11	103907617	103907617	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttctctctccaggtcagcCccgactttgagctccgaaac	7	17	3	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr11:103907617C>A	uc001phr.2	+	1	310	c.67C>A	c.(67-69)CCC>ACC	p.P23T	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	23	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCAGGTCAGCCCCGACTTTGA	0.512													A	103907617	C	A	103907617	3	1	135	1	0	0	0	0	1	0	0	0	4328	623	22	5	69	5	DDI1	11	103907617	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	26271709	103907617	31098899	105	78750											
LAYN	143903	broad.mit.edu	37	chr11	111414845	111414845	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acctcttgccatctgatggtGacttctggattgggctcagg	12	10	4	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr11:111414845G>T	uc001plr.1	+	3	643	c.307G>T	c.(307-309)GAC>TAC	p.D103Y	LAYN_uc001plp.1_Missense_Mutation_p.D95Y|LAYN_uc001plq.1_Missense_Mutation_p.D103Y|LAYN_uc001pls.1_Missense_Mutation_p.D95Y|LAYN_uc010rwg.1_Silent_p.V2V|LAYN_uc010rwh.1_5'UTR	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	layilin	103	C-type lectin.|Extracellular (Potential).					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding				0		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		ATCTGATGGTGACTTCTGGAT	0.483													T	111414845	G	T	111414845	3	4	135	1	0	0	0	0	1	0	0	0	8649	1290	45	5	289	5	LAYN	11	111414845	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	7507228	111414845	23591671	106	78751											
SLCO1C1	53919	broad.mit.edu	37	chr12	20903643	20903643	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccagtgtattttggagttttGattgatacttcatgcctcaa	8	7	2	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr12:20903643G>C	uc001rej.3	+	15	2188	c.1833G>C	c.(1831-1833)TTG>TTC	p.L611F	SLCO1C1_uc010sii.1_Missense_Mutation_p.L611F|SLCO1C1_uc010sij.1_Missense_Mutation_p.L562F|SLCO1C1_uc009zip.2_Missense_Mutation_p.L445F|SLCO1C1_uc001rei.2_Missense_Mutation_p.L611F|SLCO1C1_uc010sik.1_Missense_Mutation_p.L493F	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	611	Helical; Name=11; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					TTGGAGTTTTGATTGATACTT	0.343													C	20903643	G	C	20903643	3	2	135	1	0	0	0	0	1	0	0	0	14725	1281	45	5	1883	5	SLCO1C1	12	20903643	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08		20903643	112948252	107	78752											
ALG10B	144245	broad.mit.edu	37	chr12	38714150	38714150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttgtggcttcatgtttcGgcaaacaaatatcatctggg	9	7	3	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr12:38714150G>A	uc001rln.3	+	3	696	c.557G>A	c.(556-558)CGG>CAG	p.R186Q	ALG10B_uc001rlo.3_Missense_Mutation_p.R156Q|ALG10B_uc010skk.1_Missense_Mutation_p.R126Q	NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	asparagine-linked glycosylation 10 homolog B	186	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			ovary(2)|skin(1)	3	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTCATGTTTCGGCAAACAAAT	0.383													A	38714150	G	A	38714150	3	1	135	1	0	0	0	0	1	0	0	0	512	1116	39	1	567	1	ALG10B	12	38714150	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	17810507	38714150	95137745	108	78753											
DNAJC22	79962	broad.mit.edu	37	chr12	49743129	49743129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atactgcccattagcgtggcCgccagcattacagctcagag	10	13	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr12:49743129C>T	uc001rua.2	+	2	875	c.474C>T	c.(472-474)GCC>GCT	p.A158A	DNAJC22_uc001rub.2_Silent_p.A158A	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	158	Helical; (Potential).				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)	1						TTAGCGTGGCCGCCAGCATTA	0.547													T	49743129	C	T	49743129	2	4	135	1	0	0	0	0	0	0	0	1	4641	639	23	1		1	DNAJC22	12	49743129	Silent	SNP	C	TCGA-CD-5800-01A-11D-1600-08	11028979	49743129	84108766	109	78754											
B4GALNT1	2583	broad.mit.edu	37	chr12	58024855	58024855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctatgagcagctggtcaGctggggactggctcctggca	17	10	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr12:58024855G>A	uc001spg.1	-	4	830	c.398C>T	c.(397-399)GCT>GTT	p.A133V	B4GALNT1_uc010sru.1_Missense_Mutation_p.A78V|B4GALNT1_uc010srv.1_Missense_Mutation_p.A133V|B4GALNT1_uc001sph.2_Missense_Mutation_p.A133V|B4GALNT1_uc001spi.2_Missense_Mutation_p.A133V	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	133	Lumenal (Potential).				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity				0	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CAGCTGGTCAGCTGGGGACTG	0.642													A	58024855	G	A	58024855	3	1	135	1	0	0	0	0	1	0	0	0	1266	971	34	2	1235	2	B4GALNT1	12	58024855	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	8281726	58024855	75827040	110	78755											
TRHDE	29953	broad.mit.edu	37	chr12	73056851	73056851	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctcaagaacttcatgaaaaActatgatggggtagctgctg	11	7	2	3			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr12:73056851A>T	uc001sxa.2	+	19	2981	c.2951A>T	c.(2950-2952)AAC>ATC	p.N984I		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	984	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						TTCATGAAAAACTATGATGGG	0.398													T	73056851	A	T	73056851	3	4	135	1	0	0	0	0	1	0	0	0	16476	43	2	5	3025	5	TRHDE	12	73056851	Missense_Mutation	SNP	A	TCGA-CD-5800-01A-11D-1600-08	15031996	73056851	60795044	111	78756											
SELPLG	6404	broad.mit.edu	37	chr12	109017971	109017971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtggcctgtctccggtccCgggcaagcaggggacccaag	16	14	1	0	rs149021318	byFrequency	TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr12:109017971C>T	uc001tni.2	-	2	273	c.113G>A	c.(112-114)CGG>CAG	p.R38Q	SELPLG_uc001tnh.2_Missense_Mutation_p.R38Q|SELPLG_uc010sxe.1_Missense_Mutation_p.R54Q	NM_003006	NP_002997	Q14242	SELPL_HUMAN	selectin P ligand	38	Extracellular (Potential).			Missing (in Ref. 3; BAC05283).	blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding				0						TCTCCGGTCCCGGGCAAGCAG	0.572													T	109017971	C	T	109017971	3	4	135	1	0	0	0	0	1	0	0	0	14020	652	23	1	1103	1	SELPLG	12	109017971	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	35961120	109017971	24833924	112	78757											
WDR66	144406	broad.mit.edu	37	chr12	122398586	122398586	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttcgctctcatcgcaaaagCattcgaagtctcctgtttgg	8	12	2	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr12:122398586C>G	uc009zxk.2	+	14	2371	c.2229C>G	c.(2227-2229)AGC>AGG	p.S743R		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	743							calcium ion binding			ovary(1)|skin(1)	2	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ATCGCAAAAGCATTCGAAGTC	0.483													G	122398586	C	G	122398586	3	3	135	1	0	0	0	0	1	0	0	0	17314	709	25	5	2279	5	WDR66	12	122398586	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	13380615	122398586	11453309	113	78758											
CLIP1	6249	broad.mit.edu	37	chr12	122845543	122845543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgctgctcacagaggagGccactgagctcatggagctg	14	12	2	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr12:122845543G>A	uc001ucg.1	-	4	1074	c.968C>T	c.(967-969)GCC>GTC	p.A323V	CLIP1_uc001uch.1_Missense_Mutation_p.A323V|CLIP1_uc001uci.1_Missense_Mutation_p.A323V|CLIP1_uc001ucj.1_Missense_Mutation_p.A24V|CLIP1_uc010tae.1_Missense_Mutation_p.A323V	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	323	Ser-rich.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CACAGAGGAGGCCACTGAGCT	0.617													A	122845543	G	A	122845543	3	1	135	1	0	0	0	0	1	0	0	0	3532	1203	42	2	3399	2	CLIP1	12	122845543	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	446957	122845543	11006352	114	78759											
EP400	57634	broad.mit.edu	37	chr12	132514347	132514347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgaggatcttgaggcaggGcctgagagagcacgctgcgc	16	9	1	4			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr12:132514347G>A	uc001ujn.2	+	27	5518	c.5483G>A	c.(5482-5484)GGC>GAC	p.G1828D	EP400_uc001ujl.2_Missense_Mutation_p.G1827D|EP400_uc001ujm.2_Missense_Mutation_p.G1747D|SNORA49_uc001ujo.2_5'Flank	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1864					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTGAGGCAGGGCCTGAGAGAG	0.657													A	132514347	G	A	132514347	3	1	135	1	0	0	0	0	1	0	0	0	5149	1203	42	2	5586	2	EP400	12	132514347	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	9668804	132514347	1337548	115	78760											
FREM2	341640	broad.mit.edu	37	chr13	39266549	39266549	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tattgaaagtggaggacagaGacagcttacacatttctctt	9	7	1	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr13:39266549G>A	uc001uwv.2	+	1	5377	c.5068G>A	c.(5068-5070)GAC>AAC	p.D1690N		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1690	Extracellular (Potential).|CSPG 12.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGAGGACAGAGACAGCTTACA	0.473													A	39266549	G	A	39266549	3	1	135	1	0	0	0	0	1	0	0	0	6045	942	33	4	5070	4	FREM2	13	39266549	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08		39266549	75903329	116	78761											
THSD1	55901	broad.mit.edu	37	chr13	52952350	52952350	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggaaatggggatttgatccgGaacttgtttgctgcagcttc	13	7	0	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr13:52952350G>C	uc001vgo.2	-	5	2300	c.1755C>G	c.(1753-1755)TTC>TTG	p.F585L	THSD1_uc001vgp.2_Missense_Mutation_p.F532L|THSD1_uc010tgz.1_Missense_Mutation_p.F206L|THSD1_uc010aea.2_Missense_Mutation_p.F46L	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	585	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ATTTGATCCGGAACTTGTTTG	0.572													C	52952350	G	C	52952350	3	2	135	1	0	0	0	0	1	0	0	0	15874	1165	41	5	807	5	THSD1	13	52952350	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	13685801	52952350	62217528	117	78762											
DIAPH3	81624	broad.mit.edu	37	chr13	60240797	60240797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaagagccaagaagttccGtttccttttttctgttgctt	7	8	1	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr13:60240797G>A	uc001vht.2	-	28	3722	c.3503C>T	c.(3502-3504)ACG>ATG	p.T1168M	DIAPH3_uc001vhs.2_RNA	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	1168					actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAGAAGTTCCGTTTCCTTTTT	0.383													A	60240797	G	A	60240797	3	1	135	1	0	0	0	0	1	0	0	0	4520	1145	40	1	82	1	DIAPH3	13	60240797	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	7288447	60240797	54929081	118	78763											
EDNRB	1910	broad.mit.edu	37	chr13	78492651	78492651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccagatccgcgacaggcCgcaggcaagaaccagcgcaa	11	16	0	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr13:78492651C>T	uc001vko.2	-	1	316	c.58G>A	c.(58-60)GGC>AGC	p.G20S	uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.G20S|EDNRB_uc010aez.1_Missense_Mutation_p.G20S|EDNRB_uc001vkp.1_Missense_Mutation_p.G103S|EDNRB_uc010afa.1_Missense_Mutation_p.G20S	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	20					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CGCGACAGGCCGCAGGCAAGA	0.642											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	78492651	C	T	78492651	3	4	135	1	0	0	0	0	1	0	0	0	4920	652	23	1	1419	1	EDNRB	13	78492651	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	18251854	78492651	36677227	119	78764											
OR4N2	390429	broad.mit.edu	37	chr14	20295827	20295827	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctggatgcatcctacTccttcattgtggctccccgg	8	16	1	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr14:20295827T>G	uc010tkv.1	+	1	220	c.220T>G	c.(220-222)TCC>GCC	p.S74A		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	74	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGCATCCTACTCCTTCATTGT	0.483													G	20295827	T	G	20295827	3	3	135	1	0	0	0	0	1	0	0	0	11077	1551	54	5	222	5	OR4N2	14	20295827	Missense_Mutation	SNP	T	TCGA-CD-5800-01A-11D-1600-08		20295827	87053713	120	78765											
LRFN5	145581	broad.mit.edu	37	chr14	42356201	42356201	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgttcagtggtctttccaatCttcatcatttgatactgaac	6	9	5	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr14:42356201C>T	uc001wvm.2	+	3	1571	c.373C>T	c.(373-375)CTT>TTT	p.L125F	LRFN5_uc010ana.2_Missense_Mutation_p.L125F	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	125	Extracellular (Potential).|LRR 4.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCTTTCCAATCTTCATCATTT	0.383										HNSCC(30;0.082)			T	42356201	C	T	42356201	3	4	135	1	0	0	0	0	1	0	0	0	8941	913	32	4	375	4	LRFN5	14	42356201	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	22060374	42356201	64993339	121	78766											
COQ6	51004	broad.mit.edu	37	chr14	74428508	74428508	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acactgctcttctggctgctAcagacttactaaaaaggctc	7	12	2	1	rs150656371		TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr14:74428508A>G	uc001xph.2	+	11	1359	c.1279A>G	c.(1279-1281)ACA>GCA	p.T427A	ENTPD5_uc001xpi.2_Intron|COQ6_uc001xpe.2_Missense_Mutation_p.T352A|COQ6_uc001xpf.2_Missense_Mutation_p.T352A|COQ6_uc010tuk.1_Missense_Mutation_p.T402A|COQ6_uc001xpg.2_Intron	NM_182476	NP_872282	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 homolog isoform a	427					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen				0				BRCA - Breast invasive adenocarcinoma(234;0.00337)		TCTGGCTGCTACAGACTTACT	0.498													G	74428508	A	G	74428508	3	3	135	1	0	0	0	0	1	0	0	0	3749	391	14	3	1321	3	COQ6	14	74428508	Missense_Mutation	SNP	A	TCGA-CD-5800-01A-11D-1600-08	32072307	74428508	32921032	122	78767											
TRIP11	9321	broad.mit.edu	37	chr14	92469890	92469890	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttgtaacgcttgatattctGtttcctttcccctgtatgtt	6	10	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr14:92469890G>C	uc001xzy.2	-	11	5218	c.4430C>G	c.(4429-4431)ACA>AGA	p.T1477R	TRIP11_uc010auf.1_Missense_Mutation_p.T1213R	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1477	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		TTGATATTCTGTTTCCTTTCC	0.368			T	PDGFRB	AML								C	92469890	G	C	92469890	3	2	135	1	0	0	0	0	1	0	0	0	16552	1377	48	5	1553	5	TRIP11	14	92469890	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	18041382	92469890	14879650	123	78768											
SERPINA1	5265	broad.mit.edu	37	chr14	94847294	94847294	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtttcccctcatcaggcagGaagaagatggcggtggcatt	13	9	2	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr14:94847294G>A	uc001ycx.3	-	3	1092	c.831C>T	c.(829-831)TTC>TTT	p.F277F	SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Silent_p.F277F|SERPINA1_uc010aux.2_Silent_p.F277F|SERPINA1_uc001ycy.3_Silent_p.F277F|SERPINA1_uc010auy.2_Silent_p.F277F|SERPINA1_uc001ycz.3_Silent_p.F277F|SERPINA1_uc010auz.2_Silent_p.F277F|SERPINA1_uc010ava.2_Silent_p.F277F|SERPINA1_uc001ydb.3_Silent_p.F277F|SERPINA1_uc010avb.2_Silent_p.F277F|SERPINA1_uc001ydc.3_Silent_p.F277F|SERPINA1_uc001yda.1_Silent_p.F277F	NM_000295	NP_000286	P01009	A1AT_HUMAN	serine proteinase inhibitor, clade A, member 1	277					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			skin(1)	1		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	CATCAGGCAGGAAGAAGATGG	0.488									Alpha-1-Antitrypsin_Deficiency				A	94847294	G	A	94847294	2	1	135	1	0	0	0	0	0	0	0	1	14086	1165	41	4		4	SERPINA1	14	94847294	Silent	SNP	G	TCGA-CD-5800-01A-11D-1600-08	2377404	94847294	12502246	124	78769											
RTL1	388015	broad.mit.edu	37	chr14	101349151	101349151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtgaaccactcggctcCgtgtaactggtcaaacagtt	9	10	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr14:101349151C>T	uc010txj.1	-	1	2034	c.1975G>A	c.(1975-1977)GGA>AGA	p.G659R	uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	659										pancreas(1)	1						CACTCGGCTCCGTGTAACTGG	0.532													T	101349151	C	T	101349151	3	4	135	1	0	0	0	0	1	0	0	0	13724	661	23	1	2105	1	RTL1	14	101349151	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	6501857	101349151	6000389	125	78770											
CCPG1	9236	broad.mit.edu	37	chr15	55651934	55651934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaaaacttattgatgaaCtgatcaagttcgttccagtg	9	6	1	3			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr15:55651934C>T	uc002acv.1	-	8	2202	c.2037G>A	c.(2035-2037)CAG>CAA	p.Q679Q	CCPG1_uc002acy.2_Silent_p.Q679Q|CCPG1_uc002acu.1_Silent_p.Q535Q|CCPG1_uc002acw.1_Silent_p.Q404Q|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Silent_p.Q679Q|CCPG1_uc002acz.1_Silent_p.Q679Q	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2	679	Lumenal (Potential).				cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)		TATTGATGAACTGATCAAGTT	0.333													T	55651934	C	T	55651934	2	4	135	1	0	0	0	0	0	0	0	1	2938	564	20	4		4	CCPG1	15	55651934	Silent	SNP	C	TCGA-CD-5800-01A-11D-1600-08		55651934	46879458	126	78771											
GTF3C1	2975	broad.mit.edu	37	chr16	27480772	27480772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagttggtgtgggaggcttgCgcaggtttcacctccatgct	14	9	1	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr16:27480772C>T	uc002dov.1	-	32	4954	c.4914G>A	c.(4912-4914)GCG>GCA	p.A1638A	GTF3C1_uc002dou.2_Silent_p.A1638A	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1638						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						GGGAGGCTTGCGCAGGTTTCA	0.602													T	27480772	C	T	27480772	2	4	135	1	0	0	0	0	0	0	0	1	6872	755	27	1		1	GTF3C1	16	27480772	Silent	SNP	C	TCGA-CD-5800-01A-11D-1600-08		27480772	62873981	127	78772											
SLC9A5	6553	broad.mit.edu	37	chr16	67293838	67293838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcggaggcctctacaagCcgcgccgtagggtgagagca	15	12	2	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr16:67293838C>T	uc002esm.2	+	12	1894	c.1831C>T	c.(1831-1833)CCG>TCG	p.P611S	SLC9A5_uc010cee.2_Missense_Mutation_p.P316S|SLC9A5_uc010vji.1_Missense_Mutation_p.P115S|uc002esn.1_5'Flank	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	611					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CCTCTACAAGCCGCGCCGTAG	0.597													T	67293838	C	T	67293838	3	4	135	1	0	0	0	0	1	0	0	0	14717	739	26	2	1877	2	SLC9A5	16	67293838	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	39813066	67293838	23060915	128	78773											
NQO1	1728	broad.mit.edu	37	chr16	69745175	69745175	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttggaagccacagaaatgcaGaatgccactctgaggataca	10	9	1	3			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr16:69745175G>C	uc002exp.2	-	6	720	c.529C>G	c.(529-531)CTG>GTG	p.L177V	NQO1_uc010cfm.2_Missense_Mutation_p.L156V|NQO1_uc002exq.2_Missense_Mutation_p.L143V|NQO1_uc002exr.2_Missense_Mutation_p.L139V|NQO1_uc010vll.1_Missense_Mutation_p.L105V	NM_000903	NP_000894	P15559	NQO1_HUMAN	NAD(P)H menadione oxidoreductase 1,	177					nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity				0					Dicumarol(DB00266)|Menadione(DB00170)	CAGAAATGCAGAATGCCACTC	0.453													C	69745175	G	C	69745175	3	2	135	1	0	0	0	0	1	0	0	0	10611	933	33	5	299	5	NQO1	16	69745175	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	2451337	69745175	20609578	129	78774											
COG4	25839	broad.mit.edu	37	chr16	70515668	70515668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgacccctttaccttaccCggttaaaggtggatttcagc	8	12	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr16:70515668C>T	uc002ezc.2	-	17	2116	c.2105G>A	c.(2104-2106)CGG>CAG	p.R702Q	COG4_uc002eza.2_Missense_Mutation_p.R39Q|COG4_uc002ezb.2_Missense_Mutation_p.R158Q|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.R681Q|COG4_uc002eze.2_Missense_Mutation_p.R396Q	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	698	D domain.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				TTACCTTACCCGGTTAAAGGT	0.572													T	70515668	C	T	70515668	3	4	135	1	0	0	0	0	1	0	0	0	3660	666	23	1	276	1	COG4	16	70515668	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	770493	70515668	19839085	130	78775											
ANKRD11	29123	broad.mit.edu	37	chr16	89350371	89350371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctgtagtctgtcactggcGagtcccagctgtcctcccct	9	17	2	0	rs145730800		TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr16:89350371G>A	uc002fmx.1	-	9	3040	c.2579C>T	c.(2578-2580)TCG>TTG	p.S860L	ANKRD11_uc002fmy.1_Missense_Mutation_p.S860L|ANKRD11_uc002fnc.1_Missense_Mutation_p.S860L|ANKRD11_uc002fnb.1_Missense_Mutation_p.S817L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	860	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGTCACTGGCGAGTCCCAGCT	0.537													A	89350371	G	A	89350371	3	1	135	1	0	0	0	0	1	0	0	0	639	1059	37	1	5432	1	ANKRD11	16	89350371	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	18834703	89350371	1004382	131	78776											
RPA1	6117	broad.mit.edu	37	chr17	1782886	1782886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcaagagctatgaagacGccactaaaatcacagtgagg	10	9	2	4			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr17:1782886G>A	uc002fto.2	+	11	1100	c.985G>A	c.(985-987)GCC>ACC	p.A329T		NM_002945	NP_002936	P27694	RFA1_HUMAN	replication protein A1	329					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding				0						CTATGAAGACGCCACTAAAAT	0.488								NER					A	1782886	G	A	1782886	3	1	135	1	0	0	0	0	1	0	0	0	13536	1087	38	1	1027	1	RPA1	17	1782886	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08		1782886	79412324	132	78777											
NUP88	4927	broad.mit.edu	37	chr17	5312217	5312217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtctctcctagagatgcGgtatacgcccttctggaaag	11	11	2	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr17:5312217G>A	uc002gbo.1	-	5	719	c.693C>T	c.(691-693)ACC>ACT	p.T231T	NUP88_uc010vsx.1_Silent_p.T231T|NUP88_uc010cle.1_Silent_p.T230T|NUP88_uc010vsy.1_Silent_p.T231T	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	231					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1						CTAGAGATGCGGTATACGCCC	0.323													A	5312217	G	A	5312217	2	1	135	1	0	0	0	0	0	0	0	1	10771	1103	39	1		1	NUP88	17	5312217	Silent	SNP	G	TCGA-CD-5800-01A-11D-1600-08	3529331	5312217	75882993	133	78778											
TP53	7157	broad.mit.edu	37	chr17	7578526	7578526	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggtcttggccagttggCaaaacatcttgttgagggca	14	8	2	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr17:7578526C>A	uc002gim.2	-	5	598	c.404G>T	c.(403-405)TGC>TTC	p.C135F	TP53_uc002gig.1_Missense_Mutation_p.C135F|TP53_uc002gih.2_Missense_Mutation_p.C135F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C3F|TP53_uc010cng.1_Missense_Mutation_p.C3F|TP53_uc002gii.1_Missense_Mutation_p.C3F|TP53_uc010cnh.1_Missense_Mutation_p.C135F|TP53_uc010cni.1_Missense_Mutation_p.C135F|TP53_uc002gij.2_Missense_Mutation_p.C135F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C42F|TP53_uc002gio.2_Missense_Mutation_p.C3F|TP53_uc010vug.1_Missense_Mutation_p.C96F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	135	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C135Y(51)|p.C135F(34)|p.C135W(19)|p.C135S(10)|p.C135fs*35(9)|p.0?(7)|p.C135*(7)|p.C135G(6)|p.C135R(6)|p.C135C(5)|p.C135fs*14(2)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*36(1)|p.C135fs*15(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.C42Y(1)|p.C3Y(1)|p.M133fs*13(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCCAGTTGGCAAAACATCTT	0.572		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7578526	C	A	7578526	3	1	135	1	0	0	0	0	1	0	0	0	16378	710	25	5	894	5	TP53	17	7578526	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	2266309	7578526	73616684	134	78779											
KDM6B	23135	broad.mit.edu	37	chr17	7748912	7748912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggggcccgcgctgcaCgggaagcctttgcccttggg	15	15	0	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr17:7748912C>T	uc002giw.1	+	4	416	c.40C>T	c.(40-42)CGG>TGG	p.R14W	KDM6B_uc002gix.2_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	14					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						CCGCGCTGCACGGGAAGCCTT	0.642													T	7748912	C	T	7748912	3	4	135	1	0	0	0	0	1	0	0	0	8138	527	19	1	42	1	KDM6B	17	7748912	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	170386	7748912	73446298	135	78780											
MMP28	79148	broad.mit.edu	37	chr17	34093640	34093640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcgccagtagcggtcatctCggaagaagatgatggagcca	15	9	2	3			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr17:34093640C>T	uc002hjy.1	-	10	1701	c.1442G>A	c.(1441-1443)CGA>CAA	p.R481Q	MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	matrix metalloproteinase 28 isoform 1	481	Hemopexin-like 4.				proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCGGTCATCTCGGAAGAAGAT	0.672													T	34093640	C	T	34093640	3	4	135	1	0	0	0	0	1	0	0	0	9665	884	31	1	124	1	MMP28	17	34093640	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	26344728	34093640	47101570	136	78781											
CCL5	6352	broad.mit.edu	37	chr17	34199417	34199417	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagttgatgtactcccgaacCcatttcttctctgggttggc	10	11	2	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr17:34199417C>G	uc002hkf.2	-	3	308	c.240G>C	c.(238-240)TGG>TGC	p.W80C		NM_002985	NP_002976	P13501	CCL5_HUMAN	small inducible cytokine A5 precursor	80					activation of phospholipase D activity|cell-cell signaling|cellular protein complex assembly|chemokine-mediated signaling pathway|dendritic cell chemotaxis|eosinophil chemotaxis|immune response|leukocyte cell-cell adhesion|macrophage chemotaxis|negative regulation of T cell apoptosis|negative regulation of viral genome replication|neutrophil activation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of homotypic cell-cell adhesion|positive regulation of innate immune response|positive regulation of macrophage chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of T cell apoptosis|positive regulation of T cell chemotaxis|positive regulation of T cell proliferation|positive regulation of translational initiation|positive regulation of tyrosine phosphorylation of STAT protein|positive regulation of viral genome replication|protein tetramerization|regulation of chronic inflammatory response|response to virus	extracellular space	CCR1 chemokine receptor binding|CCR4 chemokine receptor binding|CCR5 chemokine receptor binding|chemoattractant activity|chemokine activity|chemokine receptor antagonist activity|protein homodimerization activity|protein self-association|receptor signaling protein tyrosine kinase activator activity				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0183)		ACTCCCGAACCCATTTCTTCT	0.502													G	34199417	C	G	34199417	3	3	135	1	0	0	0	0	1	0	0	0	2905	624	22	5	39	5	CCL5	17	34199417	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	105777	34199417	46995793	137	78782											
ACLY	47	broad.mit.edu	37	chr17	40049326	40049326	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccactgagggctcgtctcGggagcagacatagtcaaagt	13	10	2	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr17:40049326G>A	uc002hyg.2	-	15	1724	c.1561C>T	c.(1561-1563)CGA>TGA	p.R521*	ACLY_uc002hyh.2_Nonsense_Mutation_p.R511*|ACLY_uc002hyi.2_Nonsense_Mutation_p.R575*|ACLY_uc010wfx.1_Nonsense_Mutation_p.R565*|ACLY_uc010wfy.1_Nonsense_Mutation_p.R250*	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	521					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				GGCTCGTCTCGGGAGCAGACA	0.557													A	40049326	G	A	40049326	4	1	135	1	0	0	0	0	0	1	0	0	143	1124	39	1	1804	1	ACLY	17	40049326	Nonsense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	5849909	40049326	41145884	138	78783											
DHX58	79132	broad.mit.edu	37	chr17	40261296	40261296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccgcgtacctggctgcGcctgtggcagaggttgtact	14	14	0	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr17:40261296G>A	uc002hyw.3	-	6	893	c.670C>T	c.(670-672)CGC>TGC	p.R224C	DHX58_uc002hyv.3_RNA|DHX58_uc010wgf.1_Missense_Mutation_p.R217C	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	224					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding				0		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACCTGGCTGCGCCTGTGGCAG	0.398													A	40261296	G	A	40261296	3	1	135	1	0	0	0	0	1	0	0	0	4514	1087	38	1	1402	1	DHX58	17	40261296	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	211970	40261296	40933914	139	78784											
RUNDC1	146923	broad.mit.edu	37	chr17	41141403	41141403	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aactggacatgaatctgaatGaggacatcagttccctgtcc	9	10	2	3			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr17:41141403G>A	uc002ici.1	+	3	715	c.703G>A	c.(703-705)GAG>AAG	p.E235K	RUNDC1_uc010whi.1_Missense_Mutation_p.E5K	NM_173079	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	235	Potential.										0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GAATCTGAATGAGGACATCAG	0.458													A	41141403	G	A	41141403	3	1	135	1	0	0	0	0	1	0	0	0	13742	1291	45	4	713	4	RUNDC1	17	41141403	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	880107	41141403	40053807	140	78785											
PTPRM	5797	broad.mit.edu	37	chr18	7567872	7567872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggacttttgctaactgcggCgggcgagacgttctcaggta	14	10	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr18:7567872C>T	uc002knn.3	+	1	559	c.56C>T	c.(55-57)GCG>GTG	p.A19V	PTPRM_uc010dkv.2_Missense_Mutation_p.A19V	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	19					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				CTAACTGCGGCGGGCGAGACG	0.388													T	7567872	C	T	7567872	3	4	135	1	0	0	0	0	1	0	0	0	12806	768	27	1	58	1	PTPRM	18	7567872	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08		7567872	70509376	141	78786											
PTPRM	5797	broad.mit.edu	37	chr18	8069752	8069752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcaaatcactatccgctggGagccatttggatataatgta	10	8	1	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr18:8069752G>A	uc002knn.3	+	8	1704	c.1201G>A	c.(1201-1203)GAG>AAG	p.E401K	PTPRM_uc010dkv.2_Missense_Mutation_p.E401K|PTPRM_uc010wzl.1_Missense_Mutation_p.E188K	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	401	Fibronectin type-III 2.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				TATCCGCTGGGAGCCATTTGG	0.418													A	8069752	G	A	8069752	3	1	135	1	0	0	0	0	1	0	0	0	12806	1175	41	4	1231	4	PTPRM	18	8069752	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	501880	8069752	70007496	142	78787											
NPC1	4864	broad.mit.edu	37	chr18	21124448	21124448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagccaccgagctcagcaCgatcaagatgcccgcgatgc	11	15	2	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr18:21124448C>T	uc002kum.3	-	13	2264	c.1990G>A	c.(1990-1992)GTG>ATG	p.V664M	NPC1_uc010xaz.1_Missense_Mutation_p.V397M|NPC1_uc010xba.1_Missense_Mutation_p.V509M	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	664	SSD.|Helical; (Potential).		V -> M (in NPC1).		autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAGCTCAGCACGATCAAGATG	0.532													T	21124448	C	T	21124448	3	4	135	1	0	0	0	0	1	0	0	0	10570	536	19	1	1898	1	NPC1	18	21124448	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	13054696	21124448	56952800	143	78788											
ZNF521	25925	broad.mit.edu	37	chr18	22805849	22805849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtaacatgcttcagcaagGattcttggttggggaattcc	12	7	2	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr18:22805849G>A	uc002kvk.2	-	4	2280	c.2033C>T	c.(2032-2034)TCC>TTC	p.S678F	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.S678F|ZNF521_uc002kvl.2_Missense_Mutation_p.S458F	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	678	C2H2-type 15.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTTCAGCAAGGATTCTTGGTT	0.423			T	PAX5	ALL								A	22805849	G	A	22805849	3	1	135	1	0	0	0	0	1	0	0	0	17962	1174	41	4	1922	4	ZNF521	18	22805849	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	1681401	22805849	55271399	144	78789											
ZNF397OS	100101467	broad.mit.edu	37	chr18	32834016	32834016	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atagagcttttccctagtgtCaacgctctgttgtgtaatat	8	8	2	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr18:32834016C>G	uc002kym.2	-	4	1111	c.883G>C	c.(883-885)GAC>CAC	p.D295H	ZNF397_uc010dmq.2_Intron|ZNF397_uc010dmr.2_Intron|ZNF397_uc002kyj.2_Intron|ZNF397OS_uc002kyl.2_5'Flank|ZNF397OS_uc010xce.1_Missense_Mutation_p.D295H	NM_001112734	NP_001106205	Q86W11	ZSC30_HUMAN	zinc finger protein 397 opposite strand	295					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TCCCTAGTGTCAACGCTCTGT	0.428													G	32834016	C	G	32834016	3	3	135	1	0	0	0	0	1	0	0	0	17881	826	29	5	605	5	ZNF397OS	18	32834016	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	10028167	32834016	45243232	145	78790											
KIAA1632	57724	broad.mit.edu	37	chr18	43438665	43438665	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccaaggtgaggcactcCtgcaggaactcttccatggt	11	13	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr18:43438665C>T	uc002lbm.2	-	41	7192	c.7092G>A	c.(7090-7092)CAG>CAA	p.Q2364Q	KIAA1632_uc010xcq.1_Silent_p.Q918Q|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Silent_p.Q1239Q	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	2364					autophagy						0						TGAGGCACTCCTGCAGGAACT	0.468													T	43438665	C	T	43438665	2	4	135	1	0	0	0	0	0	0	0	1	8249	680	24	4		4	KIAA1632	18	43438665	Silent	SNP	C	TCGA-CD-5800-01A-11D-1600-08	10604649	43438665	34638583	146	78791											
C3	718	broad.mit.edu	37	chr19	6712411	6712411	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agagccatcagggttcgtcaCgaacacctgtgatgtggggt	14	9	2	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr19:6712411C>G	uc002mfm.2	-	11	1188	c.1126G>C	c.(1126-1128)GTG>CTG	p.V376L		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	376					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGGTTCGTCACGAACACCTGT	0.657													G	6712411	C	G	6712411	3	3	135	1	0	0	0	0	1	0	0	0	2204	536	19	5	3989	5	C3	19	6712411	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08		6712411	52416572	147	78792											
VAV1	7409	broad.mit.edu	37	chr19	6833745	6833745	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaggaactatgaagaagGtaagactttcccgtggtcct	10	10	0	3			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr19:6833745G>A	uc002mfu.1	+	18	1828	c.1731_splice	c.e18+1	p.K577_splice	VAV1_uc010xjh.1_Splice_Site_p.K545_splice|VAV1_uc010dva.1_Splice_Site_p.K577_splice|VAV1_uc002mfv.1_Splice_Site_p.K522_splice	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						TATGAAGAAGGTAAGACTTTC	0.542													A	6833745	G	A	6833745	5	1	135	1	0	0	0	0	0	0	1	0	17128	1275	44	4	1802	4	VAV1	19	6833745	Splice_Site	SNP	G	TCGA-CD-5800-01A-11D-1600-08	121334	6833745	52295238	148	78793											
CCDC151	115948	broad.mit.edu	37	chr19	11545634	11545634	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtaactcagccacctgagaGtgcacagagggcttccctgc	11	13	1	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr19:11545634G>T	uc002mrs.2	-	1	347	c.204C>A	c.(202-204)CAC>CAA	p.H68Q	CCDC151_uc010dxz.2_Missense_Mutation_p.H68Q|PRKCSH_uc002mrt.2_5'Flank|PRKCSH_uc002mru.2_5'Flank|PRKCSH_uc010xlz.1_5'Flank|PRKCSH_uc010dya.2_5'Flank|PRKCSH_uc002mrv.1_5'Flank|PRKCSH_uc010dyb.2_5'Flank	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	68										ovary(1)	1						CCACCTGAGAGTGCACAGAGG	0.567											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	11545634	G	T	11545634	3	4	135	1	0	0	0	0	1	0	0	0	2786	1020	36	5	1635	5	CCDC151	19	11545634	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	4711889	11545634	47583349	149	78794											
MEF2B	100271849	broad.mit.edu	37	chr19	19261546	19261546	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatttttttcctccccatcGtcccaggctgagtggaatga	10	11	0	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr19:19261546G>A	uc002nlm.2	-	2	113	c.-1C>T	c.(-3-1)GACGA>GATGA		MEF2B_uc002nln.2_Missense_Mutation_p.T47M|MEF2B_uc002nll.2_Translation_Start_Site|LOC729991-MEF2B_uc010xqo.1_Translation_Start_Site|LOC729991-MEF2B_uc010xqp.1_Translation_Start_Site|LOC729991-MEF2B_uc002nlo.2_Translation_Start_Site|LOC729991-MEF2B_uc002nlp.2_Translation_Start_Site|MEF2B_uc002nlk.2_Translation_Start_Site	NM_001145785	NP_001139257			myocyte enhancer factor 2B isoform a											skin(1)	1			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			CCTCCCCATCGTCCCAGGCTG	0.557													A	19261546	G	A	19261546	1	1	135	1	0	0	0	0	0	0	0	0	9456	1160	40	1		1	MEF2B	19	19261546	Translation_Start_Site	SNP	G	TCGA-CD-5800-01A-11D-1600-08	7715912	19261546	39867437	150	78795											
ZNF208	7757	broad.mit.edu	37	chr19	22156661	22156661	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttgtagggtttctctccaGtatgaattttcttatgataa	7	5	2	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr19:22156661G>T	uc002nqp.2	-	4	1324	c.1175C>A	c.(1174-1176)ACT>AAT	p.T392N	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTCTCTCCAGTATGAATTTT	0.388													T	22156661	G	T	22156661	3	4	135	1	0	0	0	0	1	0	0	0	17763	1029	36	5	2671	5	ZNF208	19	22156661	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	2895115	22156661	36972322	151	78796											
HNRNPL	3191	broad.mit.edu	37	chr19	39321782	39321782	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagtcagcgtctctcgaaatCttgttgaagcactctaccat	7	12	4	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr19:39321782C>T	uc002ojj.1	-	7	992	c.912G>A	c.(910-912)AAG>AAA	p.K304K	ECH1_uc002oji.2_Silent_p.K95K|ECH1_uc010xuk.1_Silent_p.K95K|HNRNPL_uc010ege.1_Intron	NM_001005335	NP_001005335	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	Error:Variant_position_missing_in_P14866_after_alignment					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CTCTCGAAATCTTGTTGAAGC	0.537													T	39321782	C	T	39321782	2	4	135	1	0	0	0	0	0	0	0	1	7270	912	32	4		4	HNRNPL	19	39321782	Silent	SNP	C	TCGA-CD-5800-01A-11D-1600-08	17165121	39321782	19807201	152	78797											
GRIK5	2901	broad.mit.edu	37	chr19	42558546	42558546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggccagaggcttcacacCgatctcctggctgcggttca	11	14	3	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr19:42558546C>T	uc002osj.1	-	8	1017	c.982G>A	c.(982-984)GGT>AGT	p.G328S	GRIK5_uc010eib.1_Missense_Mutation_p.G247S	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	328	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GGCTTCACACCGATCTCCTGG	0.652													T	42558546	C	T	42558546	3	4	135	1	0	0	0	0	1	0	0	0	6777	652	23	1	2008	1	GRIK5	19	42558546	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	3236764	42558546	16570437	153	78798											
CCDC61	729440	broad.mit.edu	37	chr19	46498688	46498688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgaccaatcagaagcgAgaacgccggatcctggggcg	15	11	1	3			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr19:46498688A>G	uc002pdw.2	+	2	86	c.86A>G	c.(85-87)GAG>GGG	p.E29G		NM_001080402	NP_001073871			coiled-coil domain containing 61											ovary(1)	1		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		ATCAGAAGCGAGAACGCCGGA	0.612													G	46498688	A	G	46498688	3	3	135	1	0	0	0	0	1	0	0	0	2832	304	11	3	92	3	CCDC61	19	46498688	Missense_Mutation	SNP	A	TCGA-CD-5800-01A-11D-1600-08	3940142	46498688	12630295	154	78799											
ZNF160	90338	broad.mit.edu	37	chr19	53571594	53571595	+	Frame_Shift_Ins	INS	-	-	T													attcattacatttgtaaggtINStttttcccagtatggattgc							TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr19:53571593_53571594G>GT	uc010eqk.3	-	6	2609_2610	c.2193_2194C>AC	c.(2191-2196)aaacctfs	p.K731fs	ZNF160_uc002qaq.4_Frame_Shift_Ins_p.K731fs|ZNF160_uc002qar.4_Frame_Shift_Ins_p.K731fs	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	731					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CATTTGTAAGGTTTTTTCCCAG	0.45													T	53571595	-	T	53571594	7	5	135	1	0	1	1	0	0	0	0	0	17736	1722	60	0	267	0	ZNF160	19	53571594	Frame_Shift_Ins	INS	-	TCGA-CD-5800-01A-11D-1600-08	7072906	53571594	5557389	155	78800											
CHMP2A	27243	broad.mit.edu	37	chr19	59065483	59065483	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtctctagtttctgtcGctcgcggtccagctcccgca	11	15	2	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr19:59065483G>A	uc002qti.2	-	1	523	c.97C>T	c.(97-99)CGA>TGA	p.R33*	CHMP2A_uc002qtj.2_Nonsense_Mutation_p.R33*|CHMP2A_uc002qtk.2_Nonsense_Mutation_p.R33*	NM_198426	NP_940818	O43633	CHM2A_HUMAN	chromatin modifying protein 2A	33	Potential.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		AGTTTCTGTCGCTCGCGGTCC	0.582													A	59065483	G	A	59065483	4	1	135	1	0	0	0	0	0	1	0	0	3354	1095	38	1	591	1	CHMP2A	19	59065483	Nonsense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	5493889	59065483	63500	156	78801											
TGM6	343641	broad.mit.edu	37	chr20	2384268	2384268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcagtcaccgccatccgcGagggtgatgtgcacctggct	12	15	2	1	rs148470870	byFrequency	TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr20:2384268G>A	uc002wfy.1	+	9	1196	c.1135G>A	c.(1135-1137)GAG>AAG	p.E379K	TGM6_uc010gal.1_Missense_Mutation_p.E379K	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	379					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	CGCCATCCGCGAGGGTGATGT	0.637													A	2384268	G	A	2384268	3	1	135	1	0	0	0	0	1	0	0	0	15831	1059	37	1	1169	1	TGM6	20	2384268	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08		2384268	60641252	157	78802											
COMMD7	149951	broad.mit.edu	37	chr20	31291840	31291840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcacctatatacacattttCggtttgatttcctttcttaa	3	10	2	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr20:31291840C>T	uc002wya.3	-	8	1128	c.511G>A	c.(511-513)GAA>AAA	p.E171K	COMMD7_uc010ged.2_Missense_Mutation_p.E170K|COMMD7_uc002wyb.2_Missense_Mutation_p.E171K	NM_053041	NP_444269	Q86VX2	COMD7_HUMAN	COMM domain containing 7 isoform 1	171	COMM.			E -> K (in Ref. 1; AAS22244 and 5; AAH47440).	negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway		NF-kappaB binding			breast(1)	1						TACACATTTTCGGTTTGATTT	0.368													T	31291840	C	T	31291840	3	4	135	1	0	0	0	0	1	0	0	0	3721	893	31	1	99	1	COMMD7	20	31291840	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	28907572	31291840	31733680	158	78803											
DLGAP4	22839	broad.mit.edu	37	chr20	35060202	35060202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcccctgtttgcagggaccGaccgcaacccctacctgctg	10	17	0	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr20:35060202G>A	uc002xff.2	+	3	517	c.82G>A	c.(82-84)GAC>AAC	p.D28N	DLGAP4_uc010zvp.1_Missense_Mutation_p.D28N	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	28					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TGCAGGGACCGACCGCAACCC	0.697													A	35060202	G	A	35060202	3	1	135	1	0	0	0	0	1	0	0	0	4562	1058	37	1	84	1	DLGAP4	20	35060202	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	3768362	35060202	27965318	159	78804											
SALL4	57167	broad.mit.edu	37	chr20	50407885	50407885	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacttacacttgtgcttgtaGagggccgcctcgtctttggg	12	10	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr20:50407885G>A	uc002xwh.3	-	2	1238	c.1137C>T	c.(1135-1137)CTC>CTT	p.L379L	SALL4_uc010gii.2_Silent_p.L379L|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	379					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TGTGCTTGTAGAGGGCCGCCT	0.552													A	50407885	G	A	50407885	2	1	135	1	0	0	0	0	0	0	0	1	13813	929	33	4		4	SALL4	20	50407885	Silent	SNP	G	TCGA-CD-5800-01A-11D-1600-08	15347683	50407885	12617635	160	78805											
SPO11	23626	broad.mit.edu	37	chr20	55918512	55918512	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaaaatttggaggatggaTataaaaataaatcagaagaa	8	1	1	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr20:55918512T>C	uc002xye.2	+	13	1280	c.1187T>C	c.(1186-1188)ATA>ACA	p.I396T	SPO11_uc002xyf.2_Missense_Mutation_p.I358T	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	meiotic recombination protein SPO11 isoform a	396					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			breast(2)|skin(1)	3	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			GGAGGATGGATATAAAAATAA	0.303								Editing_and_processing_nucleases					C	55918512	T	C	55918512	3	2	135	1	0	0	0	0	1	0	0	0	15076	1406	49	3	1237	3	SPO11	20	55918512	Missense_Mutation	SNP	T	TCGA-CD-5800-01A-11D-1600-08	5510627	55918512	7107008	161	78806											
GNAS	2778	broad.mit.edu	37	chr20	57430185	57430185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcgggggctgcttcggtcGatctgagagtccccagccca	13	14	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr20:57430185G>A	uc002xzw.2	+	1	2150	c.1865G>A	c.(1864-1866)CGA>CAA	p.R622Q	GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGCTTCGGTCGATCTGAGAGT	0.612			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			A	57430185	G	A	57430185	3	1	135	1	0	0	0	0	1	0	0	0	6510	1058	37	1	2609	1	GNAS	20	57430185	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	1511673	57430185	5595335	162	78807											
LAMA5	3911	broad.mit.edu	37	chr20	60907448	60907448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggaagaagcgtgcctgttCggctgtgagcctcacgctgg	15	11	1	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr20:60907448C>T	uc002ycq.2	-	28	3599	c.3532G>A	c.(3532-3534)GAA>AAA	p.E1178K		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1178	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGTGCCTGTTCGGCTGTGAGC	0.622													T	60907448	C	T	60907448	3	4	135	1	0	0	0	0	1	0	0	0	8609	893	31	1	7767	1	LAMA5	20	60907448	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	3477263	60907448	2118072	163	78808											
EEF1A2	1917	broad.mit.edu	37	chr20	62126392	62126392	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgctcccgcgtctgcccattCttggagatgcccgcctcgaa	10	16	2	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr20:62126392C>T	uc002yfd.1	-	3	488	c.387G>A	c.(385-387)AAG>AAA	p.K129K	EEF1A2_uc002yfe.1_Silent_p.K129K|EEF1A2_uc010gkg.1_Silent_p.K129K	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	129						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TCTGCCCATTCTTGGAGATGC	0.672													T	62126392	C	T	62126392	2	4	135	1	0	0	0	0	0	0	0	1	4924	912	32	4		4	EEF1A2	20	62126392	Silent	SNP	C	TCGA-CD-5800-01A-11D-1600-08	1218944	62126392	899128	164	78809											
C20orf135	140701	broad.mit.edu	37	chr20	62493340	62493340	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccaagctggtggcctgtgaCggcaacgagatcgacactat	13	11	0	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr20:62493340C>G	uc002ygx.1	+	1	775	c.447C>G	c.(445-447)GAC>GAG	p.D149E		NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN	hypothetical protein LOC140701	149							hydrolase activity				0	all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					TGGCCTGTGACGGCAACGAGA	0.701													G	62493340	C	G	62493340	3	3	135	1	0	0	0	0	1	0	0	0	2088	535	19	5	449	5	C20orf135	20	62493340	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	366948	62493340	532180	165	78810											
TPTE	7179	broad.mit.edu	37	chr21	10970031	10970031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctttcgcaggtgcctcctCggttgctcctttaaattcac	7	13	2	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr21:10970031C>T	uc002yip.1	-	6	465	c.97G>A	c.(97-99)GAG>AAG	p.E33K	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.E33K|TPTE_uc002yir.1_Missense_Mutation_p.E33K|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	33					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGTGCCTCCTCGGTTGCTCCT	0.393													T	10970031	C	T	10970031	3	4	135	1	0	0	0	0	1	0	0	0	16427	893	31	1	1634	1	TPTE	21	10970031	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08		10970031	37159864	166	78811											
RUNX1	861	broad.mit.edu	37	chr21	36171641	36171641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagagagggttgtcatgccGctggcacgtccaggtgaaat	15	9	1	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr21:36171641G>A	uc002yuh.2	-	5	2421	c.843C>T	c.(841-843)AGC>AGT	p.S281S	RUNX1_uc002yui.2_Silent_p.S217S|RUNX1_uc010gmu.2_Silent_p.S308S|RUNX1_uc010gmv.2_Silent_p.S308S|RUNX1_uc002yuj.3_Silent_p.S176S|RUNX1_uc002yuk.3_Silent_p.S308S|RUNX1_uc002yul.1_Silent_p.S73S|RUNX1_uc002yum.1_Silent_p.S112S	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	281	Pro/Ser/Thr-rich.			Missing: No DNA-binding.	myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.Y281*(1)		haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						TTGTCATGCCGCTGGCACGTC	0.547			T	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4	AML|preB- ALL|T-ALL				Platelet_disorder_associated_with_Myeloid_Malignancies				A	36171641	G	A	36171641	2	1	135	1	0	0	0	0	0	0	0	1	13746	1078	38	1		1	RUNX1	21	36171641	Silent	SNP	G	TCGA-CD-5800-01A-11D-1600-08	25201610	36171641	11958254	167	78812											
DSCAM	1826	broad.mit.edu	37	chr21	41710048	41710048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcacggtcacgtggacgCtctggctggtggagagttgt	15	9	3	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr21:41710048C>T	uc002yyq.1	-	8	2215	c.1763G>A	c.(1762-1764)AGC>AAC	p.S588N	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	588	Extracellular (Potential).|Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACGTGGACGCTCTGGCTGGT	0.502													T	41710048	C	T	41710048	3	4	135	1	0	0	0	0	1	0	0	0	4768	797	28	2	4379	2	DSCAM	21	41710048	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	5538407	41710048	6419847	168	78813											
C22orf31	25770	broad.mit.edu	37	chr22	29456681	29456681	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtagctggtgctggggcatTaatgttctgctttgcacatg	14	7	1	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr22:29456681T>C	uc003aej.1	-	2	281	c.154A>G	c.(154-156)AAT>GAT	p.N52D		NM_015370	NP_056185	O95567	CV031_HUMAN	hypothetical protein LOC25770	52											0						GCTGGGGCATTAATGTTCTGC	0.488													C	29456681	T	C	29456681	3	2	135	1	0	0	0	0	1	0	0	0	2143	1754	61	3	726	3	C22orf31	22	29456681	Missense_Mutation	SNP	T	TCGA-CD-5800-01A-11D-1600-08		29456681	21847885	169	78814											
SSTR3	6753	broad.mit.edu	37	chr22	37602944	37602944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgttggcatagggcagcGccaccaccaggaagtagagc	14	11	0	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chr22:37602944G>A	uc003ara.2	-	2	961	c.899C>T	c.(898-900)GCG>GTG	p.A300V	SSTR3_uc003arb.2_Missense_Mutation_p.A300V	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	300	Helical; Name=7; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1						ATAGGGCAGCGCCACCACCAG	0.622													A	37602944	G	A	37602944	3	1	135	1	0	0	0	0	1	0	0	0	15198	1087	38	1	361	1	SSTR3	22	37602944	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08	8146263	37602944	13701622	170	78815											
SHROOM2	357	broad.mit.edu	37	chrX	9905182	9905182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcttccagaattgagcGggtgatggacaacaacacca	9	10	2	3			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chrX:9905182G>A	uc004csu.1	+	7	3686	c.3596G>A	c.(3595-3597)CGG>CAG	p.R1199Q	SHROOM2_uc004csv.2_Missense_Mutation_p.R34Q|SHROOM2_uc011mic.1_Missense_Mutation_p.R34Q|SHROOM2_uc004csw.1_Missense_Mutation_p.R34Q	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	1199					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				AGAATTGAGCGGGTGATGGAC	0.582													A	9905182	G	A	9905182	3	1	135	1	0	0	0	0	1	0	0	0	14294	1116	39	1	3622	1	SHROOM2	23	9905182	Missense_Mutation	SNP	G	TCGA-CD-5800-01A-11D-1600-08		9905182	145365378	171	78816											
PHKA2	5256	broad.mit.edu	37	chrX	18926989	18926989	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acaatcttttagctgctcaaCcagcttctcacagtccacgt	5	14	3	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chrX:18926989C>G	uc004cyv.3	-	21	2720	c.2290G>C	c.(2290-2292)GTT>CTT	p.V764L	PHKA2_uc004cyu.3_Missense_Mutation_p.V62L	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	764					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					AGCTGCTCAACCAGCTTCTCA	0.403													G	18926989	C	G	18926989	3	3	135	1	0	0	0	0	1	0	0	0	11844	507	18	5	1469	5	PHKA2	23	18926989	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	9021807	18926989	136343571	172	78817											
CXorf58	254158	broad.mit.edu	37	chrX	23953497	23953497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgttacagagaccagtaaCgcaagagatccataagcacc	8	11	1	2			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chrX:23953497C>T	uc004daz.1	+	7	1084	c.740C>T	c.(739-741)ACG>ATG	p.T247M	CXorf58_uc011mju.1_Missense_Mutation_p.T247M	NM_152761	NP_689974	Q96LI9	CX058_HUMAN	hypothetical protein LOC254158	247											0						AGACCAGTAACGCAAGAGATC	0.368													T	23953497	C	T	23953497	3	4	135	1	0	0	0	0	1	0	0	0	4114	536	19	1	762	1	CXorf58	23	23953497	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	5026508	23953497	131317063	173	78818											
CCNB3	85417	broad.mit.edu	37	chrX	50051783	50051783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagtgacagtgatgatgCgtttgttatagagccaatga	14	4	0	6			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chrX:50051783C>T	uc004dox.3	+	6	912	c.614C>T	c.(613-615)GCG>GTG	p.A205V	CCNB3_uc004doy.2_Missense_Mutation_p.A205V|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	205					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					AGTGATGATGCGTTTGTTATA	0.403													T	50051783	C	T	50051783	3	4	135	1	0	0	0	0	1	0	0	0	2914	768	27	1	628	1	CCNB3	23	50051783	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	26098286	50051783	105218777	174	78819											
RAB40A	142684	broad.mit.edu	37	chrX	102755046	102755046	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttaaggtactggggagCgggagcttgtccaccagatg	14	9	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chrX:102755046C>T	uc004ekk.2	-	3	981	c.639G>A	c.(637-639)CCG>CCA	p.P213P		NM_080879	NP_543155	Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	213	SOCS box.				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0						TACTGGGGAGCGGGAGCTTGT	0.587													T	102755046	C	T	102755046	2	4	135	1	0	0	0	0	0	0	0	1	12939	755	27	1		1	RAB40A	23	102755046	Silent	SNP	C	TCGA-CD-5800-01A-11D-1600-08	52703263	102755046	52515514	175	78820											
ZIC3	7547	broad.mit.edu	37	chrX	136652214	136652214	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacttcctcctaattttaaCgaatggtacgtctgaggaca	9	9	1	1			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chrX:136652214C>A	uc004fak.2	+	3	1894	c.1389C>A	c.(1387-1389)AAC>AAA	p.N463K		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	463					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					CTAATTTTAACGAATGGTACG	0.403													A	136652214	C	A	136652214	3	1	135	1	0	0	0	0	1	0	0	0	17677	535	19	5	1399	5	ZIC3	23	136652214	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	33897168	136652214	18618346	176	78821											
PLXNB3	5365	broad.mit.edu	37	chrX	153036318	153036318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatttggccctacgcgtgCggaaccttcaacatttccga	9	14	1	0			TCGA-CD-5800-01A-11D-1600-08	TCGA-CD-5800-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4438b658-ee94-44a8-9623-8cc28409bd05	9e13e9e2-7455-414a-bf94-70929fe16f6b	g.chrX:153036318C>T	uc004fii.2	+	11	2290	c.2116C>T	c.(2116-2118)CGG>TGG	p.R706W	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.1_Missense_Mutation_p.R388W|PLXNB3_uc010nuk.2_Missense_Mutation_p.R729W|PLXNB3_uc011mzd.1_Missense_Mutation_p.R345W	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	706	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTACGCGTGCGGAACCTTCA	0.642													T	153036318	C	T	153036318	3	4	135	1	0	0	0	0	1	0	0	0	12125	759	27	1	2272	1	PLXNB3	23	153036318	Missense_Mutation	SNP	C	TCGA-CD-5800-01A-11D-1600-08	16384104	153036318	2234242	177	78822											
WDR8	49856	broad.mit.edu	37	chr1	3553603	3553603	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacgaagatgctcacgtaatCtttgcagtcgcgccgttctg	11	11	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:3553603C>T	uc001ako.2	-	5	580	c.472G>A	c.(472-474)GAT>AAT	p.D158N	WDR8_uc001akn.3_Missense_Mutation_p.D158N|WDR8_uc010nzi.1_Missense_Mutation_p.D158N	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN	WD repeat domain 8	158						centrosome	protein binding				0	all_cancers(77;0.0128)|all_epithelial(69;0.00526)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;4.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.16e-22)|GBM - Glioblastoma multiforme(42;1.05e-14)|Colorectal(212;1.19e-05)|BRCA - Breast invasive adenocarcinoma(365;2.67e-05)|COAD - Colon adenocarcinoma(227;5.82e-05)|Kidney(185;0.000364)|KIRC - Kidney renal clear cell carcinoma(229;0.00223)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CTCACGTAATCTTTGCAGTCG	0.567													T	3553603	C	T	3553603	3	4	136	1	0	0	0	0	1	0	0	0	17326	913	32	4	942	4	WDR8	1	3553603	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08		3553603	245697018	1	78823											
TAS1R1	80835	broad.mit.edu	37	chr1	6631246	6631246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgtgctgccaccacagccGccctgctgagccctttcctg	9	19	0	1	rs139619592		TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:6631246G>A	uc001ant.2	+	2	469	c.469G>A	c.(469-471)GCC>ACC	p.A157T	TAS1R1_uc001anu.2_Missense_Mutation_p.A157T|TAS1R1_uc001anv.2_Missense_Mutation_p.A157T|TAS1R1_uc001anw.2_Missense_Mutation_p.A157T	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	157	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)		CACCACAGCCGCCCTGCTGAG	0.607													A	6631246	G	A	6631246	3	1	136	1	0	0	0	0	1	0	0	0	15559	1087	38	1	475	1	TAS1R1	1	6631246	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	3077643	6631246	242619375	2	78824											
MIIP	60672	broad.mit.edu	37	chr1	12091346	12091346	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgctgggctgggacatTtttcctccgaagtctgagaa	12	10	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:12091346T>G	uc001ato.1	+	9	1146	c.966T>G	c.(964-966)ATT>ATG	p.I322M		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	invasion inhibitory protein 45	322										ovary(1)	1						GCTGGGACATTTTTCCTCCGA	0.612													G	12091346	T	G	12091346	3	3	136	1	0	0	0	0	1	0	0	0	9585	1829	64	5	996	5	MIIP	1	12091346	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	5460100	12091346	237159275	3	78825											
VPS13D	55187	broad.mit.edu	37	chr1	12336474	12336474	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcattgtgttgttggagcaGcatacccgcgaggttctggt	14	8	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:12336474G>A	uc001atv.2	+	19	2970	c.2829G>A	c.(2827-2829)CAG>CAA	p.Q943Q	VPS13D_uc001atw.2_Silent_p.Q943Q|VPS13D_uc001atx.2_Silent_p.Q131Q	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	943					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGTTGGAGCAGCATACCCGCG	0.488											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	12336474	G	A	12336474	2	1	136	1	0	0	0	0	0	0	0	1	17189	962	34	2		2	VPS13D	1	12336474	Silent	SNP	G	TCGA-CD-5801-01A-11D-1600-08	245128	12336474	236914147	4	78826											
VPS13D	55187	broad.mit.edu	37	chr1	12338075	12338075	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacacgacatgatttctttgAatctttgcatagaggtcaag	8	8	3	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:12338075A>C	uc001atv.2	+	19	4571	c.4430A>C	c.(4429-4431)GAA>GCA	p.E1477A	VPS13D_uc001atw.2_Missense_Mutation_p.E1477A|VPS13D_uc001atx.2_Missense_Mutation_p.E665A	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1477					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GATTTCTTTGAATCTTTGCAT	0.463													C	12338075	A	C	12338075	3	2	136	1	0	0	0	0	1	0	0	0	17189	246	9	5	4500	5	VPS13D	1	12338075	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	1601	12338075	236912546	5	78827											
PRAMEF4	400735	broad.mit.edu	37	chr1	12942969	12942969	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcatccagcccatcgagcaCagcttggaaggcctccagac	10	15	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:12942969C>A	uc001aun.2	-	2	318	c.247G>T	c.(247-249)GTG>TTG	p.V83L		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	PRAME family member 4	83										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCGAGCACAGCTTGGAAG	0.622													A	12942969	C	A	12942969	3	1	136	1	0	0	0	0	1	0	0	0	12437	478	17	5	1201	5	PRAMEF4	1	12942969	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	604894	12942969	236307652	6	78828											
SPEN	23013	broad.mit.edu	37	chr1	16255927	16255927	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatactgttgccagccccaaAgactgtcaggagcttgccag	10	12	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:16255927A>T	uc001axk.1	+	11	3396	c.3192A>T	c.(3190-3192)AAA>AAT	p.K1064N	SPEN_uc010obp.1_Missense_Mutation_p.K1023N	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1064					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCAGCCCCAAAGACTGTCAGG	0.458													T	16255927	A	T	16255927	3	4	136	1	0	0	0	0	1	0	0	0	15037	69	3	5	3234	5	SPEN	1	16255927	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	3312958	16255927	232994694	7	78829											
KIF17	57576	broad.mit.edu	37	chr1	20998458	20998458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggctggtttttgtgatgaCgggatgtgggatcttccaga	16	5	1	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:20998458C>T	uc001bdr.3	-	12	2813	c.2695G>A	c.(2695-2697)GTC>ATC	p.V899I	KIF17_uc001bdp.3_Missense_Mutation_p.V177I|KIF17_uc001bdq.3_Missense_Mutation_p.V177I|KIF17_uc009vpx.2_Missense_Mutation_p.V269I|KIF17_uc001bds.3_Missense_Mutation_p.V899I	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	899					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TTTGTGATGACGGGATGTGGG	0.577													T	20998458	C	T	20998458	3	4	136	1	0	0	0	0	1	0	0	0	8279	536	19	1	410	1	KIF17	1	20998458	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	4742531	20998458	228252163	8	78830											
MAN1C1	57134	broad.mit.edu	37	chr1	26012981	26012981	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttatgcaatggggaaaaaCgaactccgtccactaacaaa	8	10	0	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:26012981C>T	uc001bkm.2	+	2	921	c.591C>T	c.(589-591)AAC>AAT	p.N197N	MAN1C1_uc009vry.1_Silent_p.N17N	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	197	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(1)	1		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		TGGGGAAAAACGAACTCCGTC	0.493													T	26012981	C	T	26012981	2	4	136	1	0	0	0	0	0	0	0	1	9213	535	19	1		1	MAN1C1	1	26012981	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	5014523	26012981	223237640	9	78831											
YTHDF2	51441	broad.mit.edu	37	chr1	29069898	29069898	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggatggtaatggagtaggAcagtctcaggctggttctgg	17	5	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:29069898A>C	uc001brc.2	+	4	1613	c.1116A>C	c.(1114-1116)GGA>GGC	p.G372G	YTHDF2_uc001brd.2_Silent_p.G369G|YTHDF2_uc010ofx.1_Silent_p.G322G|YTHDF2_uc001bre.2_Silent_p.G322G	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	372					humoral immune response					ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGAGTAGGACAGTCTCAGG	0.522													C	29069898	A	C	29069898	2	2	136	1	0	0	0	0	0	0	0	1	17496	262	10	5		5	YTHDF2	1	29069898	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	3056917	29069898	220180723	10	78832											
CSMD2	114784	broad.mit.edu	37	chr1	33988919	33988919	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacttacatggccatctaaAgcccagtgatcatctttgaa	7	10	3	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:33988919A>C	uc001bxn.1	-	66	10094	c.10065T>G	c.(10063-10065)GCT>GCG	p.A3355A	CSMD2_uc001bxm.1_Silent_p.A3499A	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3355	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCCATCTAAAGCCCAGTGAT	0.468													C	33988919	A	C	33988919	2	2	136	1	0	0	0	0	0	0	0	1	3945	59	3	5		5	CSMD2	1	33988919	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	4919021	33988919	215261702	11	78833											
OSCP1	127700	broad.mit.edu	37	chr1	36888482	36888482	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctcttcacttcttcaccTttgttgttgaacattctaca	3	12	5	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:36888482T>C	uc001cap.2	-	7	748	c.666A>G	c.(664-666)AAA>AAG	p.K222K	OSCP1_uc001caq.2_Silent_p.K212K	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN	oxidored-nitro domain-containing protein isoform	222					transport	basal plasma membrane				ovary(2)|central_nervous_system(1)|pancreas(1)	4						CTTCTTCACCTTTGTTGTTGA	0.398													C	36888482	T	C	36888482	2	2	136	1	0	0	0	0	0	0	0	1	11286	1606	56	3		3	OSCP1	1	36888482	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	2899563	36888482	212362139	12	78834											
MACF1	23499	broad.mit.edu	37	chr1	39798125	39798125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaagagccaccctaaggcCacagcaagccagagtgagaa	11	12	0	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:39798125C>T	uc010oiu.1	+	1	1316	c.1185C>T	c.(1183-1185)GCC>GCT	p.A395A	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1960					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACCCTAAGGCCACAGCAAGCC	0.468													T	39798125	C	T	39798125	2	4	136	1	0	0	0	0	0	0	0	1	9144	581	21	4		4	MACF1	1	39798125	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	2909643	39798125	209452496	13	78835											
PIK3R3	8503	broad.mit.edu	37	chr1	46511630	46511630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctttcttgctactctcacGaattaagaatgcaccatcag	5	12	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:46511630G>A	uc001cpb.3	-	9	1903	c.1147C>T	c.(1147-1149)CGT>TGT	p.R383C	PIK3R3_uc009vyb.2_Missense_Mutation_p.R324C|PIK3R3_uc009vyc.2_Missense_Mutation_p.R400C|PIK3R3_uc001cpc.3_Missense_Mutation_p.R383C|PIK3R3_uc010olw.1_Missense_Mutation_p.R429C|PIK3R3_uc010olv.1_Missense_Mutation_p.R173C	NM_003629	NP_003620	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3	383	SH2 2.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					CTACTCTCACGAATTAAGAAT	0.393													A	46511630	G	A	46511630	3	1	136	1	0	0	0	0	1	0	0	0	11920	1058	37	1	246	1	PIK3R3	1	46511630	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	6713505	46511630	202738991	14	78836											
C1orf168	199920	broad.mit.edu	37	chr1	57257967	57257967	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggagtaagccccatgccTttttgcccttccagatggat	9	12	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:57257967T>C	uc001cym.3	-	2	925	c.519A>G	c.(517-519)AAA>AAG	p.K173K	C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Silent_p.K173K	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	hypothetical protein LOC199920	173										ovary(3)|skin(2)	5						GCCCCATGCCTTTTTGCCCTT	0.493													C	57257967	T	C	57257967	2	2	136	1	0	0	0	0	0	0	0	1	2012	1606	56	3		3	C1orf168	1	57257967	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	10746337	57257967	191992654	15	78837											
CACHD1	57685	broad.mit.edu	37	chr1	65146982	65146982	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acctggagaatgacagagatGaaagggacgacgacagccac	13	9	0	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:65146982G>A	uc001dbo.1	+	25	3400	c.3295G>A	c.(3295-3297)GAA>AAA	p.E1099K	CACHD1_uc001dbp.1_Missense_Mutation_p.E854K|CACHD1_uc001dbq.1_Missense_Mutation_p.E854K|CACHD1_uc010opa.1_Missense_Mutation_p.E343K	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	1150	Cytoplasmic (Potential).				calcium ion transport	integral to membrane				ovary(2)	2						TGACAGAGATGAAAGGGACGA	0.428													A	65146982	G	A	65146982	3	1	136	1	0	0	0	0	1	0	0	0	2537	1291	45	4	3393	4	CACHD1	1	65146982	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	7889015	65146982	184103639	16	78838											
IL12RB2	3595	broad.mit.edu	37	chr1	67793930	67793930	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagaagcaatgtaaagacaTttattgtgactatttggact	9	5	0	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:67793930T>G	uc001ddu.2	+	5	1167	c.527T>G	c.(526-528)ATT>AGT	p.I176S	IL12RB2_uc010oqi.1_Missense_Mutation_p.I176S|IL12RB2_uc010oqj.1_Missense_Mutation_p.I176S|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.I176S|IL12RB2_uc010oqm.1_Missense_Mutation_p.I176S|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	176	Extracellular (Potential).|Fibronectin type-III 1.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						TGTAAAGACATTTATTGTGAC	0.398													G	67793930	T	G	67793930	3	3	136	1	0	0	0	0	1	0	0	0	7627	1493	52	5	541	5	IL12RB2	1	67793930	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	2646948	67793930	181456691	17	78839											
LRRC7	57554	broad.mit.edu	37	chr1	70555444	70555444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaaagaatcctggccttgGatttagtatcagtggtggaa	12	5	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:70555444G>A	uc001dep.2	+	23	4403	c.4373G>A	c.(4372-4374)GGA>GAA	p.G1458E	LRRC7_uc009wbg.2_Missense_Mutation_p.G742E|LRRC7_uc001deq.2_Missense_Mutation_p.G652E	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1458	PDZ.					centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						CCTGGCCTTGGATTTAGTATC	0.289													A	70555444	G	A	70555444	3	1	136	1	0	0	0	0	1	0	0	0	9020	1174	41	4	4463	4	LRRC7	1	70555444	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	2761514	70555444	178695177	18	78840											
WDR63	126820	broad.mit.edu	37	chr1	85546958	85546958	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagtattaaccaccaagaccCaagaaatatttaactgccga	5	10	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:85546958C>A	uc001dkt.2	+	4	336	c.145C>A	c.(145-147)CAA>AAA	p.Q49K	WDR63_uc009wcl.2_Missense_Mutation_p.Q49K	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	49										upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CACCAAGACCCAAGAAATATT	0.343													A	85546958	C	A	85546958	3	1	136	1	0	0	0	0	1	0	0	0	17311	595	21	5	155	5	WDR63	1	85546958	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	14991514	85546958	163703663	19	78841											
COL24A1	255631	broad.mit.edu	37	chr1	86487966	86487966	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccctggtggtcctggtaaaCcaacagcaccctaagagaag	10	12	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:86487966C>G	uc001dlj.2	-	18	2255	c.2213G>C	c.(2212-2214)GGT>GCT	p.G738A	COL24A1_uc010osd.1_Missense_Mutation_p.G38A|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	738					cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCTGGTAAACCAACAGCACC	0.398													G	86487966	C	G	86487966	3	3	136	1	0	0	0	0	1	0	0	0	3683	507	18	5	3103	5	COL24A1	1	86487966	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	941008	86487966	162762655	20	78842											
LRRC8C	84230	broad.mit.edu	37	chr1	90178825	90178825	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actgcaggggctctggataaAaaggaaggtgagcaggctaa	15	6	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:90178825A>T	uc001dnl.3	+	3	938	c.696A>T	c.(694-696)AAA>AAT	p.K232N		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member	232						endoplasmic reticulum membrane|integral to membrane				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CTCTGGATAAAAAGGAAGGTG	0.448													T	90178825	A	T	90178825	3	4	136	1	0	0	0	0	1	0	0	0	9023	11	1	5	702	5	LRRC8C	1	90178825	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	3690859	90178825	159071796	21	78843											
BRDT	676	broad.mit.edu	37	chr1	92442816	92442816	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattaaggcactgtagtgagAttcttaaagaaatgcttgca	9	5	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:92442816A>G	uc001dok.3	+	6	1184	c.835A>G	c.(835-837)ATT>GTT	p.I279V	BRDT_uc001dol.3_Missense_Mutation_p.I279V|BRDT_uc010osz.1_Missense_Mutation_p.I283V|BRDT_uc009wdf.2_Missense_Mutation_p.I206V|BRDT_uc010ota.1_Missense_Mutation_p.I233V|BRDT_uc010otb.1_Missense_Mutation_p.I233V|BRDT_uc001dom.3_Missense_Mutation_p.I279V	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CTGTAGTGAGATTCTTAAAGA	0.338													G	92442816	A	G	92442816	3	3	136	1	0	0	0	0	1	0	0	0	1508	333	12	3	853	3	BRDT	1	92442816	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	2263991	92442816	156807805	22	78844											
AMY2B	280	broad.mit.edu	37	chr1	104115765	104115765	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagcagtacctgtggaagTtacttcaaccctggaagtag	10	9	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:104115765T>G	uc001duq.2	+	5	1012	c.396T>G	c.(394-396)AGT>AGG	p.S132R	AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.S132R|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	132					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CCTGTGGAAGTTACTTCAACC	0.403													G	104115765	T	G	104115765	3	3	136	1	0	0	0	0	1	0	0	0	595	1722	60	5	406	5	AMY2B	1	104115765	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	11672949	104115765	145134856	23	78845											
AMY2B	280	broad.mit.edu	37	chr1	104117951	104117951	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggagcctctattcttAccttctgggatgctaggtag	12	9	3	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:104117951A>G	uc001duq.2	+	8	1601	c.985A>G	c.(985-987)ACC>GCC	p.T329A	AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.T329A|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	329					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CTCTATTCTTACCTTCTGGGA	0.388													G	104117951	A	G	104117951	3	3	136	1	0	0	0	0	1	0	0	0	595	391	14	3	1007	3	AMY2B	1	104117951	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	2186	104117951	145132670	24	78846											
AKNAD1	254268	broad.mit.edu	37	chr1	109394496	109394496	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattttcactttgggagcaAtcttagagaaatcagggagc	11	6	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:109394496A>C	uc001dwa.2	-	2	1060	c.791T>G	c.(790-792)ATT>AGT	p.I264S	AKNAD1_uc010ovb.1_Intron|AKNAD1_uc001dwb.2_RNA	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	264										ovary(3)	3						TTTGGGAGCAATCTTAGAGAA	0.398													C	109394496	A	C	109394496	3	2	136	1	0	0	0	0	1	0	0	0	464	101	4	5	1779	5	AKNAD1	1	109394496	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	5276545	109394496	139856125	25	78847											
CAPZA1	829	broad.mit.edu	37	chr1	113212713	113212713	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaatcgactggaacaagAtactcagctacaagattggc	8	10	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:113212713A>G	uc001ecj.1	+	10	1212	c.820A>G	c.(820-822)ATA>GTA	p.I274V		NM_006135	NP_006126	P52907	CAZA1_HUMAN	F-actin capping protein alpha-1 subunit	274					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding				0	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGAACAAGATACTCAGCTA	0.428													G	113212713	A	G	113212713	3	3	136	1	0	0	0	0	1	0	0	0	2640	333	12	3	858	3	CAPZA1	1	113212713	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	3818217	113212713	136037908	26	78848											
LRIG2	9860	broad.mit.edu	37	chr1	113655213	113655213	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctcagatttcctggcagaaAgatggtggtactgactttcc	10	10	1	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:113655213A>T	uc001edf.1	+	14	2109	c.1911A>T	c.(1909-1911)AAA>AAT	p.K637N	LRIG2_uc009wgn.1_Missense_Mutation_p.K534N	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	637	Ig-like C2-type 2.|Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CCTGGCAGAAAGATGGTGGTA	0.493													T	113655213	A	T	113655213	3	4	136	1	0	0	0	0	1	0	0	0	8945	69	3	5	1965	5	LRIG2	1	113655213	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	442500	113655213	135595408	27	78849											
TRIM45	80263	broad.mit.edu	37	chr1	117656011	117656011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctccacaggcgcagcgagCggttttctggcccccgctgg	14	16	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:117656011C>T	uc001egz.2	-	5	2152	c.1564G>A	c.(1564-1566)GCT>ACT	p.A522T	TRIM45_uc009whe.2_Missense_Mutation_p.A504T|TRIM45_uc001eha.2_Missense_Mutation_p.A418T	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	tripartite motif-containing 45 isoform 1	522						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GCGCAGCGAGCGGTTTTCTGG	0.617													T	117656011	C	T	117656011	3	4	136	1	0	0	0	0	1	0	0	0	16517	768	27	1	186	1	TRIM45	1	117656011	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	4000798	117656011	131594610	28	78850											
ADAM30	11085	broad.mit.edu	37	chr1	120436891	120436891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaggcgaaacattatgatgGacacaacccaaattgacgag	9	8	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:120436891G>A	uc001eij.2	-	1	2223	c.2069C>T	c.(2068-2070)TCC>TTC	p.S690F		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	690	Helical; (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CATTATGATGGACACAACCCA	0.453													A	120436891	G	A	120436891	3	1	136	1	0	0	0	0	1	0	0	0	248	1174	41	4	307	4	ADAM30	1	120436891	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	2780880	120436891	128813730	29	78851											
SETDB1	9869	broad.mit.edu	37	chr1	150936034	150936034	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagcgtcaagtggcagtaaaAtcaacccgaggctttgctct	10	10	3	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:150936034A>T	uc001evu.2	+	20	3676	c.3486A>T	c.(3484-3486)AAA>AAT	p.K1162N	SETDB1_uc001evv.2_Missense_Mutation_p.K1162N|SETDB1_uc009wmg.1_Missense_Mutation_p.K1162N	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	1162	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGCAGTAAAATCAACCCGAG	0.483													T	150936034	A	T	150936034	3	4	136	1	0	0	0	0	1	0	0	0	14138	98	4	5	3560	5	SETDB1	1	150936034	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	30499143	150936034	98314587	30	78852											
POGZ	23126	broad.mit.edu	37	chr1	151378288	151378288	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtggtgccgcagcatgaAacgcacagcccactcatagg	12	13	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:151378288A>C	uc001eyd.1	-	19	3529	c.3223T>G	c.(3223-3225)TTC>GTC	p.F1075V	POGZ_uc001eye.1_Missense_Mutation_p.F1022V|POGZ_uc010pdb.1_Missense_Mutation_p.F1066V|POGZ_uc001eyf.1_Missense_Mutation_p.F1031V|POGZ_uc010pdc.1_Missense_Mutation_p.F1013V|POGZ_uc009wmv.1_Missense_Mutation_p.F980V|POGZ_uc010pdd.1_Missense_Mutation_p.F566V	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1075	HTH CENPB-type.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGCAGCATGAAACGCACAGCC	0.522													C	151378288	A	C	151378288	3	2	136	1	0	0	0	0	1	0	0	0	12186	14	1	5	1013	5	POGZ	1	151378288	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	442254	151378288	97872333	31	78853											
FLG	2312	broad.mit.edu	37	chr1	152286342	152286342	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatgactggctctgtcttcAtcatgggacctggggtgtct	12	11	5	1	rs140261784	byFrequency	TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:152286342A>C	uc001ezu.1	-	3	1056	c.1020T>G	c.(1018-1020)GAT>GAG	p.D340E	uc001ezv.2_RNA	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	340	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGTCTTCATCATGGGACC	0.562									Ichthyosis				C	152286342	A	C	152286342	3	2	136	1	0	0	0	0	1	0	0	0	5922	214	8	5	11169	5	FLG	1	152286342	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	908054	152286342	96964279	32	78854											
FLG2	388698	broad.mit.edu	37	chr1	152325738	152325738	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgagccccctgagtgcacTtcactgtcactggactcact	9	15	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:152325738T>G	uc001ezw.3	-	3	4597	c.4524A>C	c.(4522-4524)GAA>GAC	p.E1508D	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1508	Filaggrin 5.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGTGCACTTCACTGTCAC	0.502													G	152325738	T	G	152325738	3	3	136	1	0	0	0	0	1	0	0	0	5923	1606	56	5	2655	5	FLG2	1	152325738	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	39396	152325738	96924883	33	78855											
C1orf43	25912	broad.mit.edu	37	chr1	154180073	154180073	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggggactgagttaggtcTttggctgctgactggtgatg	16	6	2	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:154180073T>C	uc001fei.2	-	7	1008	c.618A>G	c.(616-618)AAA>AAG	p.K206K	C1orf189_uc001fee.1_5'Flank|C1orf43_uc001fef.1_Silent_p.K103K|C1orf43_uc001feg.2_Silent_p.K172K|C1orf43_uc001feh.2_Silent_p.K154K|C1orf43_uc001fej.2_Silent_p.K188K|C1orf43_uc009wos.1_3'UTR	NM_001098616	NP_001092086	Q9BWL3	CA043_HUMAN	hypothetical protein LOC25912 isoform 3	206						integral to membrane	coenzyme binding|oxidoreductase activity				0	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					GAGTTAGGTCTTTGGCTGCTG	0.502													C	154180073	T	C	154180073	2	2	136	1	0	0	0	0	0	0	0	1	2040	1606	56	3		3	C1orf43	1	154180073	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1854335	154180073	95070548	34	78856											
ADAR	103	broad.mit.edu	37	chr1	154574777	154574777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtggcagactcctgccaCgtggtgaaggatgctggaac	14	10	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:154574777C>T	uc001ffh.2	-	2	541	c.341G>A	c.(340-342)CGT>CAT	p.R114H	ADAR_uc001ffj.2_Missense_Mutation_p.R114H|ADAR_uc001ffi.2_Missense_Mutation_p.R114H|ADAR_uc001ffk.2_Translation_Start_Site|ADAR_uc001ffl.1_Translation_Start_Site|ADAR_uc001ffm.1_Intron|ADAR_uc001ffn.1_Intron	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	114					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		ACTCCTGCCACGTGGTGAAGG	0.537													T	154574777	C	T	154574777	3	4	136	1	0	0	0	0	1	0	0	0	281	536	19	1	3395	1	ADAR	1	154574777	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	394704	154574777	94675844	35	78857											
PBXIP1	57326	broad.mit.edu	37	chr1	154919262	154919262	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctggtgcatcaggctctgAagctcttccttttgggccta	12	11	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:154919262A>C	uc001ffr.2	-	10	947	c.888T>G	c.(886-888)CTT>CTG	p.L296L	PBXIP1_uc001ffs.2_Silent_p.L267L|PBXIP1_uc010pep.1_Silent_p.L141L	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	296	Potential.				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCAGGCTCTGAAGCTCTTCCT	0.552													C	154919262	A	C	154919262	2	2	136	1	0	0	0	0	0	0	0	1	11496	233	9	5		5	PBXIP1	1	154919262	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	344485	154919262	94331359	36	78858											
OR10Z1	128368	broad.mit.edu	37	chr1	158576882	158576882	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcatcaccatctcctaCgcctacatcttggcagcaat	4	15	5	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:158576882C>T	uc010pio.1	+	1	654	c.654C>T	c.(652-654)TAC>TAT	p.Y218Y		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	218	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					CCATCTCCTACGCCTACATCT	0.512													T	158576882	C	T	158576882	2	4	136	1	0	0	0	0	0	0	0	1	10923	547	19	1		1	OR10Z1	1	158576882	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	3657620	158576882	90673739	37	78859											
SPTA1	6708	broad.mit.edu	37	chr1	158614075	158614075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctttgtccaaatcgtcccGtttcttcatcaaagcctcca	5	14	3	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:158614075G>A	uc001fst.1	-	30	4505	c.4306C>T	c.(4306-4308)CGG>TGG	p.R1436W		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1436	Spectrin 14.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					AAATCGTCCCGTTTCTTCATC	0.368													A	158614075	G	A	158614075	3	1	136	1	0	0	0	0	1	0	0	0	15115	1144	40	1	3045	1	SPTA1	1	158614075	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	37193	158614075	90636546	38	78860											
OLFML2B	25903	broad.mit.edu	37	chr1	161968040	161968040	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtccctgacgggtggctGcaggcctccgggtgacactg	16	12	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:161968040G>T	uc001gbu.2	-	6	1473	c.1049C>A	c.(1048-1050)GCA>GAA	p.A350E	OLFML2B_uc010pkq.1_Missense_Mutation_p.A351E	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	350										skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ACGGGTGGCTGCAGGCCTCCG	0.587													T	161968040	G	T	161968040	3	4	136	1	0	0	0	0	1	0	0	0	10858	1319	46	5	1215	5	OLFML2B	1	161968040	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	3353965	161968040	87282581	39	78861											
DUSP27	92235	broad.mit.edu	37	chr1	167096038	167096038	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagaatccaatttggatttcAcaagaaagacttgggagcgg	12	6	1	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:167096038A>T	uc001geb.1	+	5	1670	c.1670A>T	c.(1669-1671)CAC>CTC	p.H557L		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	557					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						TTTGGATTTCACAAGAAAGAC	0.552													T	167096038	A	T	167096038	3	4	136	1	0	0	0	0	1	0	0	0	4824	159	6	5	1688	5	DUSP27	1	167096038	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	5127998	167096038	82154583	40	78862											
SELE	6401	broad.mit.edu	37	chr1	169694904	169694904	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttaaaggatgtaagaaggcTtttggtagcttccatctgat	10	6	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:169694904T>C	uc001ggm.3	-	13	1971	c.1814A>G	c.(1813-1815)AAG>AGG	p.K605R	C1orf112_uc001ggj.2_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	selectin E precursor	605	Cytoplasmic (Potential).				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			ovary(3)|skin(2)	5	all_hematologic(923;0.208)					GTAAGAAGGCTTTTGGTAGCT	0.388													C	169694904	T	C	169694904	3	2	136	1	0	0	0	0	1	0	0	0	14013	1609	56	3	22	3	SELE	1	169694904	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	2598866	169694904	79555717	41	78863											
C1orf156	92342	broad.mit.edu	37	chr1	169762022	169762022	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagtacaagcttacaaaacTcagaccactcaccagaaaaa	4	11	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:169762022T>C	uc001ggn.2	-	2	1093	c.815A>G	c.(814-816)GAG>GGG	p.E272G	C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_5'Flank|uc010plt.1_5'Flank|C1orf112_uc001ggp.2_5'Flank|C1orf112_uc001ggq.2_5'Flank|C1orf112_uc009wvt.2_5'Flank	NM_033418	NP_219486	O95568	MET18_HUMAN	hypothetical protein MGC9084	272						cytoplasm	protein methyltransferase activity				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTACAAAACTCAGACCACTC	0.323													C	169762022	T	C	169762022	3	2	136	1	0	0	0	0	1	0	0	0	2006	1551	54	3	307	3	C1orf156	1	169762022	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	67118	169762022	79488599	42	78864											
METTL13	51603	broad.mit.edu	37	chr1	171755119	171755119	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggttgattacagtggccctTcaccgaggtcagcagtatga	12	9	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:171755119T>C	uc001ghz.2	+	3	1361	c.1014T>C	c.(1012-1014)CTT>CTC	p.L338L	METTL13_uc001gia.2_Silent_p.L252L|METTL13_uc001gib.2_Silent_p.L182L|METTL13_uc010pml.1_Silent_p.L337L	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN	CGI-01 protein isoform 1	338							methyltransferase activity|protein binding			kidney(1)	1						CAGTGGCCCTTCACCGAGGTC	0.617													C	171755119	T	C	171755119	2	2	136	1	0	0	0	0	0	0	0	1	9497	1770	62	3		3	METTL13	1	171755119	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1993097	171755119	77495502	43	78865											
SLC9A11	284525	broad.mit.edu	37	chr1	173570870	173570870	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctggctgcccgcagagtaAatcaggtctgttactttcat	10	10	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:173570870A>C	uc001giz.2	-	2	469	c.46T>G	c.(46-48)TTA>GTA	p.L16V	SLC9A11_uc010pmq.1_Intron	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	16					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						CCGCAGAGTAAATCAGGTCTG	0.418													C	173570870	A	C	173570870	3	2	136	1	0	0	0	0	1	0	0	0	14711	11	1	5	3436	5	SLC9A11	1	173570870	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	1815751	173570870	75679751	44	78866											
TNN	63923	broad.mit.edu	37	chr1	175054550	175054550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtttccaggtctgcaccCggggactgagtataagatca	11	10	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:175054550C>T	uc001gkl.1	+	6	1357	c.1244C>T	c.(1243-1245)CCG>CTG	p.P415L	TNN_uc010pmx.1_Missense_Mutation_p.P415L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	415	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGTCTGCACCCGGGGACTGAG	0.602													T	175054550	C	T	175054550	3	4	136	1	0	0	0	0	1	0	0	0	16320	652	23	1	1262	1	TNN	1	175054550	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	1483680	175054550	74196071	45	78867											
CEP350	9857	broad.mit.edu	37	chr1	180022921	180022921	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggaggacaagatagcTtttctaaatttactatggag	9	6	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:180022921T>G	uc001gnt.2	+	24	5409	c.5026T>G	c.(5026-5028)TTT>GTT	p.F1676V	CEP350_uc009wxl.2_Missense_Mutation_p.F1675V	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1676						centrosome|nucleus|spindle				ovary(4)	4						ACAAGATAGCTTTTCTAAATT	0.398													G	180022921	T	G	180022921	3	3	136	1	0	0	0	0	1	0	0	0	3254	1609	56	5	5116	5	CEP350	1	180022921	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	4968371	180022921	69227700	46	78868											
FAM5C	339479	broad.mit.edu	37	chr1	190129816	190129816	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acctttgtcttggcaggctgAtgaggggttgtttatgacac	13	7	1	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:190129816A>C	uc001gse.1	-	7	1398	c.1166T>G	c.(1165-1167)ATC>AGC	p.I389S	FAM5C_uc010pot.1_Missense_Mutation_p.I287S	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	389						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					TGGCAGGCTGATGAGGGGTTG	0.383													C	190129816	A	C	190129816	3	2	136	1	0	0	0	0	1	0	0	0	5594	333	12	5	1142	5	FAM5C	1	190129816	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	10106895	190129816	59120805	47	78869											
ASPM	259266	broad.mit.edu	37	chr1	197086984	197086984	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttttaacattaataattTtctctgtgctaagactcttc	3	8	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:197086984T>G	uc001gtu.2	-	17	4257	c.4000A>C	c.(4000-4002)AAA>CAA	p.K1334Q	ASPM_uc001gtv.2_Missense_Mutation_p.K1334Q|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1334					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						ATTAATAATTTTCTCTGTGCT	0.303													G	197086984	T	G	197086984	3	3	136	1	0	0	0	0	1	0	0	0	1056	1850	64	5	6481	5	ASPM	1	197086984	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	6957168	197086984	52163637	48	78870											
KIF14	9928	broad.mit.edu	37	chr1	200587269	200587269	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaaatgtttctttgtattTcttatcagccatcatttcaa	4	7	5	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:200587269T>G	uc010ppk.1	-	2	1022	c.583A>C	c.(583-585)AAA>CAA	p.K195Q	KIF14_uc010ppj.1_5'UTR	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	195	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						TCTTTGTATTTCTTATCAGCC	0.368													G	200587269	T	G	200587269	3	3	136	1	0	0	0	0	1	0	0	0	8276	1792	62	5	4479	5	KIF14	1	200587269	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	3500285	200587269	48663352	49	78871											
CAMSAP1L1	23271	broad.mit.edu	37	chr1	200816802	200816802	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatctatgtcttatgtTgatggcttcatagggacatg	9	7	5	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:200816802T>G	uc001gvl.2	+	11	1530	c.1260T>G	c.(1258-1260)GTT>GTG	p.V420V	CAMSAP1L1_uc001gvk.2_Silent_p.V409V|CAMSAP1L1_uc001gvm.2_Silent_p.V393V	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	420						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TGTCTTATGTTGATGGCTTCA	0.318													G	200816802	T	G	200816802	2	3	136	1	0	0	0	0	0	0	0	1	2612	1799	63	5		5	CAMSAP1L1	1	200816802	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	229533	200816802	48433819	50	78872											
LMOD1	25802	broad.mit.edu	37	chr1	201869385	201869385	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttcctctttttaccttctcAtcctcctttttcatgtctgt	3	13	4	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:201869385A>T	uc001gxb.2	-	2	1004	c.756T>A	c.(754-756)GAT>GAA	p.D252E	LMOD1_uc010ppu.1_Missense_Mutation_p.D201E	NM_012134	NP_036266	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	252	8 X approximate tandem repeats.|6.				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			ovary(1)|pancreas(1)|skin(1)	3						TTACCTTCTCATCCTCCTTTT	0.383													T	201869385	A	T	201869385	3	4	136	1	0	0	0	0	1	0	0	0	8856	214	8	5	1054	5	LMOD1	1	201869385	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	1052583	201869385	47381236	51	78873											
FMOD	2331	broad.mit.edu	37	chr1	203317106	203317106	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agggaacgaagggcaggtacTtgaggttgcgattgtcacag	16	6	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:203317106T>G	uc001gzr.2	-	2	429	c.293A>C	c.(292-294)AAG>ACG	p.K98T	FMOD_uc010pqi.1_RNA	NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	98	LRRNT.				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGGCAGGTACTTGAGGTTGCG	0.582													G	203317106	T	G	203317106	3	3	136	1	0	0	0	0	1	0	0	0	5959	1609	56	5	845	5	FMOD	1	203317106	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1447721	203317106	45933515	52	78874											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209950798	209950798	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgcctgcaaggggacagAgacctgtgcagcttggatac	14	9	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:209950798A>G	uc001hho.2	+	12	1445	c.1155A>G	c.(1153-1155)AGA>AGG	p.R385R	TRAF3IP3_uc001hhl.2_Silent_p.R365R|TRAF3IP3_uc001hhm.1_Intron|TRAF3IP3_uc001hhn.2_Silent_p.R365R|TRAF3IP3_uc009xcr.2_Silent_p.R385R	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	385	Cytoplasmic (Potential).|Potential.					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AAGGGGACAGAGACCTGTGCA	0.512													G	209950798	A	G	209950798	2	3	136	1	0	0	0	0	0	0	0	1	16439	301	11	3		3	TRAF3IP3	1	209950798	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	6633692	209950798	39299823	53	78875											
VASH2	79805	broad.mit.edu	37	chr1	213147373	213147373	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcccccagaaggagacAggcaagccccccgaggaggc	13	16	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:213147373A>T	uc001hjy.2	+	6	1160	c.956A>T	c.(955-957)CAG>CTG	p.Q319L	VASH2_uc001hjv.2_RNA|VASH2_uc001hjx.2_Missense_Mutation_p.Q254L|VASH2_uc010ptn.1_Missense_Mutation_p.Q215L|VASH2_uc001hjw.2_Missense_Mutation_p.Q275L	NM_001136475	NP_001129947	Q86V25	VASH2_HUMAN	vasohibin 2 isoform 3	319					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm					0				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		AGAAGGAGACAGGCAAGCCCC	0.552													T	213147373	A	T	213147373	3	4	136	1	0	0	0	0	1	0	0	0	17123	188	7	5	978	5	VASH2	1	213147373	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	3196575	213147373	36103248	54	78876											
CENPF	1063	broad.mit.edu	37	chr1	214815833	214815833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgtctttggctccattGgacgagagtaattcctacga	10	10	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:214815833G>A	uc001hkm.2	+	12	4326	c.4152G>A	c.(4150-4152)TTG>TTA	p.L1384L		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGGCTCCATTGGACGAGAGTA	0.423													A	214815833	G	A	214815833	2	1	136	1	0	0	0	0	0	0	0	1	3231	1339	47	4		4	CENPF	1	214815833	Silent	SNP	G	TCGA-CD-5801-01A-11D-1600-08	1668460	214815833	34434788	55	78877											
TP53BP2	7159	broad.mit.edu	37	chr1	223971971	223971971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggttcataatcccaaagcGcataaatgactcctttattc	6	10	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:223971971G>A	uc010pvb.1	-	17	3501	c.3209C>T	c.(3208-3210)GCG>GTG	p.A1070V	TP53BP2_uc001hod.2_Missense_Mutation_p.A941V|TP53BP2_uc010puz.1_Missense_Mutation_p.A303V|TP53BP2_uc010pva.1_Missense_Mutation_p.A709V	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	1064	Mediates interaction with APC2.|SH3.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		ATCCCAAAGCGCATAAATGAC	0.403													A	223971971	G	A	223971971	3	1	136	1	0	0	0	0	1	0	0	0	16381	1087	38	1	203	1	TP53BP2	1	223971971	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	9156138	223971971	25278650	56	78878											
PARP1	142	broad.mit.edu	37	chr1	226553738	226553738	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatgatctcggcttcttcagAatctctgtcaaccacctgga	8	12	5	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:226553738A>T	uc001hqd.3	-	18	2593	c.2422T>A	c.(2422-2424)TCT>ACT	p.S808T		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	808	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCTTCTTCAGAATCTCTGTCA	0.448								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					T	226553738	A	T	226553738	3	4	136	1	0	0	0	0	1	0	0	0	11454	246	9	5	646	5	PARP1	1	226553738	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	2581767	226553738	22696883	57	78879											
PARP1	142	broad.mit.edu	37	chr1	226570854	226570854	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgttttttaaccttcaAtttcttgaggtaagagattt	7	6	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:226570854A>C	uc001hqd.3	-	8	1213	c.1042T>G	c.(1042-1044)TTG>GTG	p.L348V		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	348					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TTAACCTTCAATTTCTTGAGG	0.498								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					C	226570854	A	C	226570854	3	2	136	1	0	0	0	0	1	0	0	0	11454	98	4	5	2066	5	PARP1	1	226570854	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	17116	226570854	22679767	58	78880											
C1orf198	84886	broad.mit.edu	37	chr1	230979513	230979513	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtccaggctggaggaccTgctgccttgggaggacttga	17	10	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:230979513T>C	uc001hub.2	-	3	558	c.514A>G	c.(514-516)AGG>GGG	p.R172G	C1orf198_uc009xfh.1_Missense_Mutation_p.R42G|C1orf198_uc001huc.1_5'UTR|C1orf198_uc001hud.1_Missense_Mutation_p.R134G	NM_032800	NP_116189	Q9H425	CA198_HUMAN	hypothetical protein LOC84886 isoform 1	172											0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CTGGAGGACCTGCTGCCTTGG	0.667													C	230979513	T	C	230979513	3	2	136	1	0	0	0	0	1	0	0	0	2026	1579	55	3	477	3	C1orf198	1	230979513	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	4408659	230979513	18271108	59	78881											
SIPA1L2	57568	broad.mit.edu	37	chr1	232564266	232564266	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagcatctcccaccactgtcTgatgctgagttgctgtggac	10	13	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:232564266T>A	uc001hvg.2	-	15	4459	c.4301A>T	c.(4300-4302)CAG>CTG	p.Q1434L	SIPA1L2_uc001hvf.2_Missense_Mutation_p.Q508L	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1434					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CACCACTGTCTGATGCTGAGT	0.438													A	232564266	T	A	232564266	3	1	136	1	0	0	0	0	1	0	0	0	14330	1580	55	5	895	5	SIPA1L2	1	232564266	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1584753	232564266	16686355	60	78882											
RYR2	6262	broad.mit.edu	37	chr1	237730077	237730077	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcctttgatggcttcaaggTgagtggactttgtcctgtgc	13	8	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:237730077T>C	uc001hyl.1	+	28	3543	c.3423_splice	c.e28+2	p.K1141_splice		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCTTCAAGGTGAGTGGACTT	0.532													C	237730077	T	C	237730077	5	2	136	1	0	0	0	0	0	0	1	0	13769	1710	59	3	3535	3	RYR2	1	237730077	Splice_Site	SNP	T	TCGA-CD-5801-01A-11D-1600-08	5165811	237730077	11520544	61	78883											
RYR2	6262	broad.mit.edu	37	chr1	237806673	237806673	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcagaattaggtccatttTgagatccctcattcccctgg	7	12	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:237806673T>C	uc001hyl.1	+	48	7388	c.7268T>C	c.(7267-7269)TTG>TCG	p.L2423S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2423	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGTCCATTTTGAGATCCCTC	0.418													C	237806673	T	C	237806673	3	2	136	1	0	0	0	0	1	0	0	0	13769	1821	63	3	7458	3	RYR2	1	237806673	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	76596	237806673	11443948	62	78884											
ZNF496	84838	broad.mit.edu	37	chr1	247486469	247486469	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactcaccgggggtagctggAgggtggtcacctgctgtgtg	17	10	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr1:247486469A>G	uc001ico.2	-	5	1103	c.638T>C	c.(637-639)CTC>CCC	p.L213P	ZNF496_uc009xgv.2_Missense_Mutation_p.L213P|ZNF496_uc001icp.2_Missense_Mutation_p.L213P|ZNF496_uc010pyv.1_Missense_Mutation_p.L213P	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	213					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GGGTAGCTGGAGGGTGGTCAC	0.522													G	247486469	A	G	247486469	3	3	136	1	0	0	0	0	1	0	0	0	17942	304	11	3	1145	3	ZNF496	1	247486469	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	9679796	247486469	1764152	63	78885											
TPO	7173	broad.mit.edu	37	chr2	1507813	1507813	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttccagtgtctctgcgcggAcccctacgagttaggagacg	12	13	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:1507813A>T	uc002qww.2	+	14	2571	c.2480A>T	c.(2479-2481)GAC>GTC	p.D827V	TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.D770V|TPO_uc002qwr.2_Missense_Mutation_p.D827V|TPO_uc002qwx.2_Missense_Mutation_p.D770V|TPO_uc010yio.1_Missense_Mutation_p.D654V|TPO_uc010yip.1_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	827	Extracellular (Potential).|EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCTGCGCGGACCCCTACGAG	0.572													T	1507813	A	T	1507813	3	4	136	1	0	0	0	0	1	0	0	0	16407	275	10	5	2530	5	TPO	2	1507813	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08		1507813	241691560	64	78886											
TAF1B	9014	broad.mit.edu	37	chr2	10074061	10074061	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaactttttgagaaaaAatacagtgtaaaaagaaaga	8	2	0	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:10074061A>C	uc002qzz.2	+	15	1815	c.1715A>C	c.(1714-1716)AAA>ACA	p.K572T	TAF1B_uc010yja.1_Missense_Mutation_p.K317T|TAF1B_uc010exd.2_Missense_Mutation_p.K317T	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	TBP-associated factor 1B	572					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|breast(1)|pancreas(1)	3	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTTGAGAAAAAATACAGTGTA	0.303													C	10074061	A	C	10074061	3	2	136	1	0	0	0	0	1	0	0	0	15517	14	1	5	1773	5	TAF1B	2	10074061	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	8566248	10074061	233125312	65	78887											
ODC1	4953	broad.mit.edu	37	chr2	10584276	10584276	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaacttcactatcaaaagTcatcatctggactccattat	3	12	6	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:10584276T>C	uc010exg.1	-	5	828	c.394A>G	c.(394-396)ACT>GCT	p.T132A	ODC1_uc002ran.1_5'Flank|ODC1_uc002rao.1_Missense_Mutation_p.T132A|ODC1_uc010yjd.1_Missense_Mutation_p.T2A	NM_002539	NP_002530	P11926	DCOR_HUMAN	ornithine decarboxylase 1	132					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	CTATCAAAAGTCATCATCTGG	0.428													C	10584276	T	C	10584276	3	2	136	1	0	0	0	0	1	0	0	0	10825	1667	58	3	1023	3	ODC1	2	10584276	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	510215	10584276	232615097	66	78888											
APOB	338	broad.mit.edu	37	chr2	21225959	21225959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccttgataaacccactcaGcattgttctgcagatttctt	5	13	3	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:21225959G>T	uc002red.2	-	29	12463	c.12335C>A	c.(12334-12336)GCT>GAT	p.A4112D		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4112					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AACCCACTCAGCATTGTTCTG	0.488													T	21225959	G	T	21225959	3	4	136	1	0	0	0	0	1	0	0	0	785	971	34	5	1360	5	APOB	2	21225959	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	10641683	21225959	221973414	67	78889											
APOB	338	broad.mit.edu	37	chr2	21233516	21233516	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaaatattcttgcaaggtcTcaaaaaatgggaggttaatg	9	5	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:21233516T>A	uc002red.2	-	26	6352	c.6224A>T	c.(6223-6225)GAG>GTG	p.E2075V		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2075	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGCAAGGTCTCAAAAAATGG	0.353													A	21233516	T	A	21233516	3	1	136	1	0	0	0	0	1	0	0	0	785	1551	54	5	7483	5	APOB	2	21233516	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	7557	21233516	221965857	68	78890											
APOB	338	broad.mit.edu	37	chr2	21233884	21233884	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttttcctagacacgagatgAtgacttgtggagcctttgta	10	8	0	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:21233884A>T	uc002red.2	-	26	5984	c.5856T>A	c.(5854-5856)CAT>CAA	p.H1952Q		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1952					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACACGAGATGATGACTTGTGG	0.478													T	21233884	A	T	21233884	3	4	136	1	0	0	0	0	1	0	0	0	785	330	12	5	7851	5	APOB	2	21233884	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	368	21233884	221965489	69	78891											
APOB	338	broad.mit.edu	37	chr2	21234742	21234742	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattcagctcattctccagCaccaggagactacacttcaa	6	14	4	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:21234742C>T	uc002red.2	-	26	5126	c.4998G>A	c.(4996-4998)GTG>GTA	p.V1666V		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1666					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATTCTCCAGCACCAGGAGAC	0.463													T	21234742	C	T	21234742	2	4	136	1	0	0	0	0	0	0	0	1	785	697	25	2		2	APOB	2	21234742	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	858	21234742	221964631	70	78892											
ITSN2	50618	broad.mit.edu	37	chr2	24523025	24523025	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcatagttggctttccgtTtgtcctcaaaagtaactgaa	8	9	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:24523025T>G	uc002rfe.2	-	12	1355	c.1097A>C	c.(1096-1098)AAA>ACA	p.K366T	ITSN2_uc002rff.2_Missense_Mutation_p.K366T|ITSN2_uc002rfg.2_Missense_Mutation_p.K366T|ITSN2_uc010eyd.2_Missense_Mutation_p.K391T	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	366	Potential.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTTTCCGTTTGTCCTCAAA	0.458													G	24523025	T	G	24523025	3	3	136	1	0	0	0	0	1	0	0	0	7927	1841	64	5	4163	5	ITSN2	2	24523025	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	3288283	24523025	218676348	71	78893											
NLRC4	58484	broad.mit.edu	37	chr2	32476658	32476658	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtctccttctgatgtcTgatgaaaaagacctattaga	7	9	3	5			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:32476658T>A	uc002roi.2	-	4	521	c.275A>T	c.(274-276)CAG>CTG	p.Q92L	NLRC4_uc002roj.1_Missense_Mutation_p.Q92L|NLRC4_uc010ezt.1_Intron	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	92					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCTGATGTCTGATGAAAAAG	0.438													A	32476658	T	A	32476658	3	1	136	1	0	0	0	0	1	0	0	0	10469	1580	55	5	2823	5	NLRC4	2	32476658	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	7953633	32476658	210722715	72	78894											
YIPF4	84272	broad.mit.edu	37	chr2	32526534	32526534	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtacttttggtggttggAtcatttgaagtggtgtctac	12	6	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:32526534A>G	uc002rok.2	+	5	834	c.567A>G	c.(565-567)GGA>GGG	p.G189G		NM_032312	NP_115688	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	189						endoplasmic reticulum|integral to membrane	protein binding				0	Acute lymphoblastic leukemia(172;0.155)					TGGTGGTTGGATCATTTGAAG	0.348													G	32526534	A	G	32526534	2	3	136	1	0	0	0	0	0	0	0	1	17477	320	12	3		3	YIPF4	2	32526534	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	49876	32526534	210672839	73	78895											
BIRC6	57448	broad.mit.edu	37	chr2	32678936	32678936	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcacatctctcactggacTtttggaagttgaacctctgc	7	11	4	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:32678936T>C	uc010ezu.2	+	23	4813	c.4679T>C	c.(4678-4680)CTT>CCT	p.L1560P		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1560					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CTCACTGGACTTTTGGAAGTT	0.398													C	32678936	T	C	32678936	3	2	136	1	0	0	0	0	1	0	0	0	1438	1609	56	3	4769	3	BIRC6	2	32678936	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	152402	32678936	210520437	74	78896											
TTC27	55622	broad.mit.edu	37	chr2	32855667	32855667	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcaatgactcaaaatattTttaattcaacaacaaccgct	2	9	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:32855667T>C	uc002rom.2	+	2	397	c.166T>C	c.(166-168)TTT>CTT	p.F56L	TTC27_uc010ymx.1_Missense_Mutation_p.F6L	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	56							protein binding			central_nervous_system(1)	1						TCAAAATATTTTTAATTCAAC	0.358													C	32855667	T	C	32855667	3	2	136	1	0	0	0	0	1	0	0	0	16692	1841	64	3	172	3	TTC27	2	32855667	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	176731	32855667	210343706	75	78897											
PLEKHH2	130271	broad.mit.edu	37	chr2	43924480	43924480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaacctgagttcactgaaGgaaaagacatggaaggtatt	11	5	1	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:43924480G>A	uc010yny.1	+	7	756	c.673G>A	c.(673-675)GGA>AGA	p.G225R	PLEKHH2_uc002rte.3_Missense_Mutation_p.G225R|PLEKHH2_uc002rtf.3_Missense_Mutation_p.G224R	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	225						cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTTCACTGAAGGAAAAGACAT	0.358													A	43924480	G	A	43924480	3	1	136	1	0	0	0	0	1	0	0	0	12077	1001	35	4	695	4	PLEKHH2	2	43924480	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	11068813	43924480	199274893	76	78898											
PREPL	9581	broad.mit.edu	37	chr2	44549015	44549015	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcctccaggctgaatatctAgaataatattaggggtctga	10	7	2	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:44549015A>T	uc002ruf.2	-	13	2080	c.2045T>A	c.(2044-2046)CTA>CAA	p.L682Q	PREPL_uc002rug.2_Missense_Mutation_p.L616Q|PREPL_uc002ruh.2_Missense_Mutation_p.L620Q|PREPL_uc010fax.2_Missense_Mutation_p.L682Q|PREPL_uc002rui.3_Missense_Mutation_p.L593Q|PREPL_uc002ruj.1_Missense_Mutation_p.L593Q|PREPL_uc002ruk.1_Missense_Mutation_p.L682Q	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like isoform C	682					proteolysis	cytosol	serine-type endopeptidase activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTGAATATCTAGAATAATATT	0.413													T	44549015	A	T	44549015	3	4	136	1	0	0	0	0	1	0	0	0	12475	420	15	5	146	5	PREPL	2	44549015	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	624535	44549015	198650358	77	78899											
FSHR	2492	broad.mit.edu	37	chr2	49191026	49191026	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attgtcttctgccagagaggAtctctgacccctagcctgag	10	12	3	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:49191026A>T	uc002rww.2	-	10	1008	c.934T>A	c.(934-936)TCC>ACC	p.S312T	FSHR_uc002rwx.2_Missense_Mutation_p.S250T|FSHR_uc010fbn.2_Missense_Mutation_p.S286T	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	312	Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GCCAGAGAGGATCTCTGACCC	0.403									Gonadal_Dysgenesis_46_XX				T	49191026	A	T	49191026	3	4	136	1	0	0	0	0	1	0	0	0	6073	333	12	5	1157	5	FSHR	2	49191026	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	4642011	49191026	194008347	78	78900											
SPTBN1	6711	broad.mit.edu	37	chr2	54872493	54872493	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctcaccgtgcagaccaAgttcatggagttgctggagc	13	12	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:54872493A>C	uc002rxu.2	+	21	4646	c.4397A>C	c.(4396-4398)AAG>ACG	p.K1466T	SPTBN1_uc002rxx.2_Missense_Mutation_p.K1453T	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1466	Spectrin 12.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			GTGCAGACCAAGTTCATGGAG	0.557													C	54872493	A	C	54872493	3	2	136	1	0	0	0	0	1	0	0	0	15118	72	3	5	4588	5	SPTBN1	2	54872493	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	5681467	54872493	188326880	79	78901											
REL	5966	broad.mit.edu	37	chr2	61145345	61145345	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctccaaatactgcagaAttaaggatttgtcgtgtaaa	10	6	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:61145345A>C	uc002sam.1	+	6	779	c.555A>C	c.(553-555)GAA>GAC	p.E185D	REL_uc002san.1_Missense_Mutation_p.E185D	NM_002908	NP_002899	Q04864	REL_HUMAN	v-rel reticuloendotheliosis viral oncogene	185	RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			ATACTGCAGAATTAAGGATTT	0.308			A		Hodgkin Lymphoma								C	61145345	A	C	61145345	3	2	136	1	0	0	0	0	1	0	0	0	13215	98	4	5	577	5	REL	2	61145345	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	6272852	61145345	182054028	80	78902											
ZNF638	27332	broad.mit.edu	37	chr2	71654264	71654264	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgactttggatgaagtaacTgaagaggatgaagactctct	12	5	1	6			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:71654264T>C	uc002shx.2	+	24	5584	c.5265T>C	c.(5263-5265)ACT>ACC	p.T1755T	ZNF638_uc002shy.2_Silent_p.T1755T|ZNF638_uc002shz.2_Silent_p.T1755T|ZNF638_uc002sia.2_Silent_p.T1755T|ZNF638_uc002sib.1_3'UTR|ZNF638_uc010fed.2_Intron|ZNF638_uc002sic.2_Silent_p.T852T|ZNF638_uc002sid.2_Silent_p.T124T	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	1755					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						ATGAAGTAACTGAAGAGGATG	0.388													C	71654264	T	C	71654264	2	2	136	1	0	0	0	0	0	0	0	1	18052	1567	55	3		3	ZNF638	2	71654264	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	10508919	71654264	171545109	81	78903											
HK2	3099	broad.mit.edu	37	chr2	75104388	75104388	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgctctttggggggaagcTcagcccagagcttctcaaca	12	12	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:75104388T>G	uc002snd.2	+	8	2897	c.971T>G	c.(970-972)CTC>CGC	p.L324R		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	324	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2						GGGGGGAAGCTCAGCCCAGAG	0.547													G	75104388	T	G	75104388	3	3	136	1	0	0	0	0	1	0	0	0	7191	1551	54	5	1001	5	HK2	2	75104388	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	3450124	75104388	168094985	82	78904											
CHST10	9486	broad.mit.edu	37	chr2	101023091	101023091	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctagccaccatgaacatgAaaatcacccaaaagcatgcg	7	12	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:101023091A>G	uc002tam.2	-	3	406	c.47T>C	c.(46-48)TTC>TCC	p.F16S		NM_004854	NP_004845	O43529	CHSTA_HUMAN	HNK-1 sulfotransferase	16	Helical; Signal-anchor for type II membrane protein; (Potential).				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				ovary(1)	1						CATGAACATGAAAATCACCCA	0.478													G	101023091	A	G	101023091	3	3	136	1	0	0	0	0	1	0	0	0	3398	246	9	3	1043	3	CHST10	2	101023091	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	25918703	101023091	142176282	83	78905											
NPAS2	4862	broad.mit.edu	37	chr2	101582145	101582145	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acctccaatcataggataccTgccttttgaagtgctgggaa	9	10	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:101582145T>A	uc002tap.1	+	10	1110	c.824T>A	c.(823-825)CTG>CAG	p.L275Q	NPAS2_uc010yvt.1_Missense_Mutation_p.L340Q	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	275	PAS 2.				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4						ATAGGATACCTGCCTTTTGAA	0.562													A	101582145	T	A	101582145	3	1	136	1	0	0	0	0	1	0	0	0	10563	1580	55	5	858	5	NPAS2	2	101582145	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	559054	101582145	141617228	84	78906											
SLC9A2	6549	broad.mit.edu	37	chr2	103281748	103281748	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatcgagccactgtttgttTtcctgtacagttatttgtcc	8	9	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:103281748T>G	uc002tca.2	+	3	1085	c.943T>G	c.(943-945)TTC>GTC	p.F315V		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	315	Helical; Name=I/M7; (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						ACTGTTTGTTTTCCTGTACAG	0.443													G	103281748	T	G	103281748	3	3	136	1	0	0	0	0	1	0	0	0	14712	1841	64	5	953	5	SLC9A2	2	103281748	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1699603	103281748	139917625	85	78907											
RANBP2	5903	broad.mit.edu	37	chr2	109371385	109371385	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcccctggagtctgtaAaagagatgcttaattcagtc	10	9	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:109371385A>C	uc002tem.3	+	16	2353	c.2227A>C	c.(2227-2229)AAA>CAA	p.K743Q		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	743					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						GGAGTCTGTAAAAGAGATGCT	0.333													C	109371385	A	C	109371385	3	2	136	1	0	0	0	0	1	0	0	0	13028	15	1	5	2289	5	RANBP2	2	109371385	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	6089637	109371385	133827988	86	78908											
THSD7B	80731	broad.mit.edu	37	chr2	138033526	138033526	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatggagcccttgcatcttAgtgccagagtctgtctggca	11	10	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:138033526A>G	uc002tva.1	+	11	2337	c.2337A>G	c.(2335-2337)TTA>TTG	p.L779L	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.L669L	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTTGCATCTTAGTGCCAGAGT	0.418													G	138033526	A	G	138033526	2	3	136	1	0	0	0	0	0	0	0	1	15877	417	15	3		3	THSD7B	2	138033526	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	28662141	138033526	105165847	87	78909											
LRP1B	53353	broad.mit.edu	37	chr2	141032079	141032079	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaacctcacattttggtccTtcatagcgcgttggacagac	8	12	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:141032079T>A	uc002tvj.1	-	85	14028	c.13056A>T	c.(13054-13056)GAA>GAT	p.E4352D		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4352	Extracellular (Potential).|EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTTTGGTCCTTCATAGCGCG	0.428										TSP Lung(27;0.18)			A	141032079	T	A	141032079	3	1	136	1	0	0	0	0	1	0	0	0	8955	1606	56	5	771	5	LRP1B	2	141032079	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	2998553	141032079	102167294	88	78910											
LRP1B	53353	broad.mit.edu	37	chr2	141128301	141128301	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcacagttctcttcatcActgccatccacacagtcatg	4	15	5	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:141128301A>G	uc002tvj.1	-	71	11958	c.10986T>C	c.(10984-10986)AGT>AGC	p.S3662S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3662	Extracellular (Potential).|LDL-receptor class A 29.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTCTTCATCACTGCCATCCA	0.398										TSP Lung(27;0.18)			G	141128301	A	G	141128301	2	3	136	1	0	0	0	0	0	0	0	1	8955	156	6	3		3	LRP1B	2	141128301	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	96222	141128301	102071072	89	78911											
RIF1	55183	broad.mit.edu	37	chr2	152319680	152319680	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaactcccccataccctacaAgtcggaggcaaacctttatt	6	14	0	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:152319680A>T	uc002txm.2	+	30	3776	c.3646A>T	c.(3646-3648)AGT>TGT	p.S1216C	RIF1_uc002txl.2_Missense_Mutation_p.S1216C|RIF1_uc002txn.2_Missense_Mutation_p.S1216C|RIF1_uc002txo.2_Missense_Mutation_p.S1216C|RIF1_uc002txp.2_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1216					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATACCCTACAAGTCGGAGGCA	0.388													T	152319680	A	T	152319680	3	4	136	1	0	0	0	0	1	0	0	0	13359	72	3	5	3760	5	RIF1	2	152319680	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	11191379	152319680	90879693	90	78912											
NEB	4703	broad.mit.edu	37	chr2	152573961	152573961	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gattggttactttcttggcaAattctatatctggaggatca	9	6	4	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:152573961A>C	uc010fnx.2	-	10	982	c.791T>G	c.(790-792)TTT>TGT	p.F264C		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	264	Nebulin 6.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTCTTGGCAAATTCTATATC	0.423													C	152573961	A	C	152573961	3	2	136	1	0	0	0	0	1	0	0	0	10302	14	1	5	25587	5	NEB	2	152573961	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	254281	152573961	90625412	91	78913											
LY75	4065	broad.mit.edu	37	chr2	160706613	160706613	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgcaaaccaatccataAagtagcttccatatccggaa	6	13	0	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:160706613A>C	uc002ubc.3	-	23	3097	c.3028T>G	c.(3028-3030)TTA>GTA	p.L1010V	LY75_uc002ubb.3_Missense_Mutation_p.L1010V|LY75_uc010fos.2_Missense_Mutation_p.L1010V	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	1010	Extracellular (Potential).|C-type lectin 6.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		CCAATCCATAAAGTAGCTTCC	0.338													C	160706613	A	C	160706613	3	2	136	1	0	0	0	0	1	0	0	0	9099	11	1	5	2192	5	LY75	2	160706613	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	8132652	160706613	82492760	92	78914											
SLC38A11	151258	broad.mit.edu	37	chr2	165796034	165796034	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaaagtccaataatgaAgtggcgaccaataaacacgt	10	7	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:165796034A>C	uc002ucv.1	-	7	832	c.295T>G	c.(295-297)TTC>GTC	p.F99V	SLC38A11_uc002ucu.1_Missense_Mutation_p.F77V|SLC38A11_uc002ucw.1_Missense_Mutation_p.F99V	NM_173512	NP_775783	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	99	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane		p.L99H(1)		ovary(1)	1						CCAATAATGAAGTGGCGACCA	0.333													C	165796034	A	C	165796034	3	2	136	1	0	0	0	0	1	0	0	0	14603	72	3	5	953	5	SLC38A11	2	165796034	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	5089421	165796034	77403339	93	78915											
CSRNP3	80034	broad.mit.edu	37	chr2	166451672	166451672	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaagtttccagcagtgaaAgtgctgacagtggggacagt	14	6	0	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:166451672A>C	uc002udf.2	+	4	473	c.97A>C	c.(97-99)AGT>CGT	p.S33R	CSRNP3_uc002udg.2_Missense_Mutation_p.S33R	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	33	Ser-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						CAGCAGTGAAAGTGCTGACAG	0.453													C	166451672	A	C	166451672	3	2	136	1	0	0	0	0	1	0	0	0	3965	72	3	5	99	5	CSRNP3	2	166451672	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	655638	166451672	76747701	94	78916											
XIRP2	129446	broad.mit.edu	37	chr2	168099931	168099931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaaagtcaagaagaatcaGcggtaactatcagtaaggac	9	7	4	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:168099931G>A	uc002udx.2	+	8	2047	c.2029G>A	c.(2029-2031)GCG>ACG	p.A677T	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.A502T|XIRP2_uc010fpq.2_Missense_Mutation_p.A455T|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	502					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AGAAGAATCAGCGGTAACTAT	0.433													A	168099931	G	A	168099931	3	1	136	1	0	0	0	0	1	0	0	0	17427	971	34	2	2059	2	XIRP2	2	168099931	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	1648259	168099931	75099442	95	78917											
B3GALT1	8708	broad.mit.edu	37	chr2	168725733	168725733	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgacctatcaacccacatTcttttgaatttcttatcaac	2	13	4	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:168725733T>G	uc002udz.1	+	2	535	c.184T>G	c.(184-186)TCT>GCT	p.S62A		NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta	62	Lumenal (Potential).				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(2)|pancreas(1)|skin(1)	4						CAACCCACATTCTTTTGAATT	0.408													G	168725733	T	G	168725733	3	3	136	1	0	0	0	0	1	0	0	0	1247	1783	62	5	186	5	B3GALT1	2	168725733	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	625802	168725733	74473640	96	78918											
KLHL23	151230	broad.mit.edu	37	chr2	170592685	170592685	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctccagcagaagaggctgaGttctatgatcctttaaaaga	10	8	1	5			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:170592685G>C	uc002ufh.1	+	4	1499	c.1161G>C	c.(1159-1161)GAG>GAC	p.E387D	KLHL23_uc002ufi.1_Missense_Mutation_p.E387D	NM_144711	NP_653312	Q8NBE8	KLH23_HUMAN	kelch-like 23	387	Kelch 3.										0						AAGAGGCTGAGTTCTATGATC	0.403													C	170592685	G	C	170592685	3	2	136	1	0	0	0	0	1	0	0	0	8378	1020	36	5	1163	5	KLHL23	2	170592685	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	1866952	170592685	72606688	97	78919											
MYO3B	140469	broad.mit.edu	37	chr2	171073866	171073866	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagtacacgtctgcggagAaacacatctgttggcacccc	9	14	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:171073866A>G	uc002ufy.2	+	6	707	c.564A>G	c.(562-564)AGA>AGG	p.R188R	MYO3B_uc002ufv.2_Silent_p.R175R|MYO3B_uc010fqb.1_Silent_p.R175R|MYO3B_uc002ufz.2_Silent_p.R188R|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002uga.2_Silent_p.R175R	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	188	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						GTCTGCGGAGAAACACATCTG	0.423													G	171073866	A	G	171073866	2	3	136	1	0	0	0	0	0	0	0	1	10077	243	9	3		3	MYO3B	2	171073866	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	481181	171073866	72125507	98	78920											
DCAF17	80067	broad.mit.edu	37	chr2	172336628	172336628	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaatagatgctgaaggaaaAgctcacctggatttccactg	9	9	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:172336628A>G	uc002ugx.2	+	13	1576	c.1347A>G	c.(1345-1347)AAA>AAG	p.K449K	DCAF17_uc010zdq.1_RNA|DCAF17_uc010fqf.1_Silent_p.K382K|DCAF17_uc010zdr.1_RNA|DCAF17_uc010fqg.2_Silent_p.K169K	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17 isoform 1	449						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus					0						CTGAAGGAAAAGCTCACCTGG	0.383													G	172336628	A	G	172336628	2	3	136	1	0	0	0	0	0	0	0	1	4269	69	3	3		3	DCAF17	2	172336628	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	1262762	172336628	70862745	99	78921											
SLC25A12	8604	broad.mit.edu	37	chr2	172683315	172683315	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agattactcatacctgtctcTgaagttctgccaggttgtaa	8	9	3	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:172683315T>C	uc002uhh.2	-	9	1012	c.923A>G	c.(922-924)CAG>CGG	p.Q308R	SLC25A12_uc010fqh.2_Missense_Mutation_p.Q201R	NM_003705	NP_003696	O75746	CMC1_HUMAN	solute carrier family 25, member 12	308					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TACCTGTCTCTGAAGTTCTGC	0.398													C	172683315	T	C	172683315	3	2	136	1	0	0	0	0	1	0	0	0	14474	1580	55	3	1153	3	SLC25A12	2	172683315	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	346687	172683315	70516058	100	78922											
HAT1	8520	broad.mit.edu	37	chr2	172822019	172822019	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaacaggaggagaaaactTtacctttcagatatataagg	8	7	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:172822019T>G	uc002uhi.2	+	5	546	c.470T>G	c.(469-471)TTT>TGT	p.F157C	HAT1_uc010fqi.2_5'UTR|HAT1_uc002uhj.2_Missense_Mutation_p.F72C	NM_003642	NP_003633	O14929	HAT1_HUMAN	histone acetyltransferase 1	157					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			large_intestine(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GGAGAAAACTTTACCTTTCAG	0.323													G	172822019	T	G	172822019	3	3	136	1	0	0	0	0	1	0	0	0	6964	1841	64	5	488	5	HAT1	2	172822019	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	138704	172822019	70377354	101	78923											
TTN	7273	broad.mit.edu	37	chr2	179435725	179435725	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggccctcaggtaattctttcTtctcaacaatataaccagtg	6	11	4	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:179435725T>A	uc010zfg.1	-	275	67654	c.67430A>T	c.(67429-67431)AAG>ATG	p.K22477M	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K16172M|TTN_uc010zfi.1_Missense_Mutation_p.K16105M|TTN_uc010zfj.1_Missense_Mutation_p.K15980M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23404							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAATTCTTTCTTCTCAACAAT	0.418													A	179435725	T	A	179435725	3	1	136	1	0	0	0	0	1	0	0	0	16732	1609	56	5	32993	5	TTN	2	179435725	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	6613706	179435725	63763648	102	78924											
TTN	7273	broad.mit.edu	37	chr2	179490044	179490044	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaaatcttttgctgttAgttggacttccccagcatct	7	9	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:179490044A>C	uc010zfg.1	-	190	37024	c.36800T>G	c.(36799-36801)CTA>CGA	p.L12267R	TTN_uc010zfh.1_Missense_Mutation_p.L5962R|TTN_uc010zfi.1_Missense_Mutation_p.L5895R|TTN_uc010zfj.1_Missense_Mutation_p.L5770R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13194							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTGCTGTTAGTTGGACTTC	0.378													C	179490044	A	C	179490044	3	2	136	1	0	0	0	0	1	0	0	0	16732	420	15	5	63677	5	TTN	2	179490044	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	54319	179490044	63709329	103	78925											
TTN	7273	broad.mit.edu	37	chr2	179592845	179592845	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaattctaacctttcacaGttaagatgccactgcatgca	6	10	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:179592845G>T	uc010zfg.1	-	64	16198	c.15974C>A	c.(15973-15975)ACT>AAT	p.T5325N	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T1986N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6252							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTTCACAGTTAAGATGCC	0.368													T	179592845	G	T	179592845	3	4	136	1	0	0	0	0	1	0	0	0	16732	1029	36	5	85007	5	TTN	2	179592845	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	102801	179592845	63606528	104	78926											
TTN	7273	broad.mit.edu	37	chr2	179598199	179598199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgtggcgggatctcctGctgtcacctggatcagttct	12	12	4	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:179598199G>A	uc010zfg.1	-	51	12313	c.12089C>T	c.(12088-12090)GCA>GTA	p.A4030V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A691V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4957							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGATCTCCTGCTGTCACCTG	0.473													A	179598199	G	A	179598199	3	1	136	1	0	0	0	0	1	0	0	0	16732	1319	46	2	88944	2	TTN	2	179598199	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	5354	179598199	63601174	105	78927											
TTN	7273	broad.mit.edu	37	chr2	179600525	179600525	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtggcttatcaatgatgAtcaactctgcttggcagatg	10	7	3	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:179600525A>G	uc010zfg.1	-	47	11140	c.10916T>C	c.(10915-10917)ATC>ACC	p.I3639T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I300T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4566							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCAATGATGATCAACTCTGC	0.398													G	179600525	A	G	179600525	3	3	136	1	0	0	0	0	1	0	0	0	16732	333	12	3	90133	3	TTN	2	179600525	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	2326	179600525	63598848	106	78928											
TTN	7273	broad.mit.edu	37	chr2	179642153	179642153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatctcattttaccttccaCagttaaaatcactgaaattg	3	9	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:179642153C>T	uc010zfg.1	-	26	4863	c.4639G>A	c.(4639-4641)GTG>ATG	p.V1547M	TTN_uc010zfh.1_Missense_Mutation_p.V1501M|TTN_uc010zfi.1_Missense_Mutation_p.V1501M|TTN_uc010zfj.1_Missense_Mutation_p.V1501M|TTN_uc002unb.2_Missense_Mutation_p.V1547M|uc002unc.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1547							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACCTTCCACAGTTAAAATC	0.378													T	179642153	C	T	179642153	3	4	136	1	0	0	0	0	1	0	0	0	16732	478	17	4	106697	4	TTN	2	179642153	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	41628	179642153	63557220	107	78929											
ANKAR	150709	broad.mit.edu	37	chr2	190541514	190541514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcttagactatagagagGtccatcaaatgataagagag	9	8	2	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:190541514G>A	uc002uqw.1	+	1	85	c.85G>A	c.(85-87)GTC>ATC	p.V29I	ANKAR_uc002uqu.2_Intron|ANKAR_uc002uqv.1_Missense_Mutation_p.V100I	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	100						integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTATAGAGAGGTCCATCAAAT	0.413													A	190541514	G	A	190541514	3	1	136	1	0	0	0	0	1	0	0	0	623	1261	44	4	300	4	ANKAR	2	190541514	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	10899361	190541514	52657859	108	78930											
DNAH7	56171	broad.mit.edu	37	chr2	196682507	196682507	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacaattcccagaagcTgatcttgcattccctcaggg	7	15	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:196682507T>G	uc002utj.3	-	50	9439	c.9338A>C	c.(9337-9339)CAG>CCG	p.Q3113P		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3113	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TCCCAGAAGCTGATCTTGCAT	0.333													G	196682507	T	G	196682507	3	3	136	1	0	0	0	0	1	0	0	0	4606	1580	55	5	2800	5	DNAH7	2	196682507	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	6140993	196682507	46516866	109	78931											
DNAH7	56171	broad.mit.edu	37	chr2	196729698	196729698	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgtagttgatgagccaGcttctgtctgtattgtccag	11	7	2	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:196729698G>T	uc002utj.3	-	41	6782	c.6681C>A	c.(6679-6681)AGC>AGA	p.S2227R		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2227					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TGATGAGCCAGCTTCTGTCTG	0.348													T	196729698	G	T	196729698	3	4	136	1	0	0	0	0	1	0	0	0	4606	962	34	5	5493	5	DNAH7	2	196729698	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	47191	196729698	46469675	110	78932											
HECW2	57520	broad.mit.edu	37	chr2	197183343	197183343	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggcctccccagcactgccTtcttcttgcggtgggctctc	11	16	3	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:197183343T>G	uc002utm.1	-	9	2454	c.2271A>C	c.(2269-2271)GAA>GAC	p.E757D	HECW2_uc002utl.1_Missense_Mutation_p.E401D	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	757	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						CAGCACTGCCTTCTTCTTGCG	0.662													G	197183343	T	G	197183343	3	3	136	1	0	0	0	0	1	0	0	0	7043	1606	56	5	2531	5	HECW2	2	197183343	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	453645	197183343	46016030	111	78933											
SGOL2	151246	broad.mit.edu	37	chr2	201434462	201434462	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaacaatattaaatcaaagAcattacctgatattccctct	2	10	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:201434462A>C	uc002uvw.2	+	6	663	c.550A>C	c.(550-552)ACA>CCA	p.T184P	SGOL2_uc002uvv.3_Missense_Mutation_p.T184P|SGOL2_uc010zhd.1_Missense_Mutation_p.T184P|SGOL2_uc010zhe.1_Missense_Mutation_p.T184P	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2 isoform 1	184					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)|skin(2)	4						TAAATCAAAGACATTACCTGA	0.323													C	201434462	A	C	201434462	3	2	136	1	0	0	0	0	1	0	0	0	14217	275	10	5	568	5	SGOL2	2	201434462	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	4251119	201434462	41764911	112	78934											
SGOL2	151246	broad.mit.edu	37	chr2	201437583	201437583	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtacatgacctagaaaaAgataacttcttctctctaac	6	9	3	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:201437583A>C	uc002uvw.2	+	7	2627	c.2514A>C	c.(2512-2514)AAA>AAC	p.K838N	SGOL2_uc010zhd.1_Missense_Mutation_p.K838N|SGOL2_uc010zhe.1_Missense_Mutation_p.K838N	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2 isoform 1	838					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)|skin(2)	4						ACCTAGAAAAAGATAACTTCT	0.313													C	201437583	A	C	201437583	3	2	136	1	0	0	0	0	1	0	0	0	14217	69	3	5	2536	5	SGOL2	2	201437583	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	3121	201437583	41761790	113	78935											
ALS2	57679	broad.mit.edu	37	chr2	202590090	202590090	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgttacctgtagactccTtgaccgcacatttttccttc	5	13	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:202590090T>G	uc002uyo.2	-	20	3692	c.3336A>C	c.(3334-3336)CAA>CAC	p.Q1112H	ALS2_uc002uyp.3_Missense_Mutation_p.Q1112H|ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	1112	MORN 3.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7						TGTAGACTCCTTGACCGCACA	0.388													G	202590090	T	G	202590090	3	3	136	1	0	0	0	0	1	0	0	0	550	1606	56	5	1697	5	ALS2	2	202590090	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1152507	202590090	40609283	114	78936											
MAP2	4133	broad.mit.edu	37	chr2	210558070	210558070	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaatgaccttacccaaAgatgctcacattccagttgt	8	11	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:210558070A>G	uc002vde.1	+	7	1424	c.1176A>G	c.(1174-1176)AAA>AAG	p.K392K	MAP2_uc002vdc.1_Silent_p.K392K|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.K388K	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	392					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CCTTACCCAAAGATGCTCACA	0.433													G	210558070	A	G	210558070	2	3	136	1	0	0	0	0	0	0	0	1	9235	69	3	3		3	MAP2	2	210558070	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	7967980	210558070	32641303	115	78937											
MAP2	4133	broad.mit.edu	37	chr2	210574811	210574811	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggaacccccaagtctgccAtcttggtgccgagtgagaag	12	12	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:210574811A>G	uc002vde.1	+	12	5154	c.4906A>G	c.(4906-4908)ATC>GTC	p.I1636V	MAP2_uc002vdd.1_Missense_Mutation_p.I337V|MAP2_uc002vdf.1_Missense_Mutation_p.I280V|MAP2_uc002vdg.1_Missense_Mutation_p.I280V|MAP2_uc002vdh.1_Missense_Mutation_p.I337V|MAP2_uc002vdi.1_Missense_Mutation_p.I1632V	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1636					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CAAGTCTGCCATCTTGGTGCC	0.557													G	210574811	A	G	210574811	3	3	136	1	0	0	0	0	1	0	0	0	9235	217	8	3	5115	3	MAP2	2	210574811	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	16741	210574811	32624562	116	78938											
C2orf67	151050	broad.mit.edu	37	chr2	211019060	211019060	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taatgtagaattagatctcaTtaaaaaaacagtctggtaat	6	4	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:211019060T>G	uc002vds.2	-	2	455	c.247A>C	c.(247-249)ATG>CTG	p.M83L	C2orf67_uc002vdt.2_Missense_Mutation_p.M83L|C2orf67_uc002vdw.2_Missense_Mutation_p.M83L|C2orf67_uc002vdy.1_Missense_Mutation_p.M83L|C2orf67_uc002vdv.2_Missense_Mutation_p.M83L|C2orf67_uc002vdx.1_Missense_Mutation_p.M83L	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	83										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)		TTAGATCTCATTAAAAAAACA	0.313													G	211019060	T	G	211019060	3	3	136	1	0	0	0	0	1	0	0	0	2186	1493	52	5	2772	5	C2orf67	2	211019060	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	444249	211019060	32180313	117	78939											
CPS1	1373	broad.mit.edu	37	chr2	211540529	211540529	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggcatggccgtctcaAgaaggacagaatcccagcct	11	13	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:211540529A>G	uc002vee.3	+	36	4371	c.4239A>G	c.(4237-4239)CAA>CAG	p.Q1413Q	CPS1_uc010fur.2_Silent_p.Q1419Q|CPS1_uc010fus.2_Silent_p.Q962Q	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	1413					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGCCGTCTCAAGAAGGACAGA	0.438													G	211540529	A	G	211540529	2	3	136	1	0	0	0	0	0	0	0	1	3823	69	3	3		3	CPS1	2	211540529	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	521469	211540529	31658844	118	78940											
ERBB4	2066	broad.mit.edu	37	chr2	212566700	212566700	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatgtacttactacaatttTcagcttttctgttgtcccgg	6	9	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:212566700T>C	uc002veg.1	-	12	1579	c.1481A>G	c.(1480-1482)GAA>GGA	p.E494G	ERBB4_uc002veh.1_Missense_Mutation_p.E494G|ERBB4_uc010zji.1_Missense_Mutation_p.E494G|ERBB4_uc010zjj.1_Missense_Mutation_p.E494G|ERBB4_uc010fut.1_Missense_Mutation_p.E494G	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	494	Extracellular (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACTACAATTTTCAGCTTTTCT	0.343										TSP Lung(8;0.080)			C	212566700	T	C	212566700	3	2	136	1	0	0	0	0	1	0	0	0	5209	1783	62	3	2513	3	ERBB4	2	212566700	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1026171	212566700	30632673	119	78941											
ABCA12	26154	broad.mit.edu	37	chr2	215840618	215840618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcccatggcagtggtaaCaaagacgatggggaggataa	15	6	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:215840618C>T	uc002vew.2	-	34	5492	c.5272G>A	c.(5272-5274)GTT>ATT	p.V1758I	ABCA12_uc002vev.2_Missense_Mutation_p.V1440I|ABCA12_uc010zjn.1_Missense_Mutation_p.V685I	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1758	Helical; (Potential).				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCAGTGGTAACAAAGACGATG	0.498													T	215840618	C	T	215840618	3	4	136	1	0	0	0	0	1	0	0	0	30	478	17	4	2595	4	ABCA12	2	215840618	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	3273918	215840618	27358755	120	78942											
XRCC5	7520	broad.mit.edu	37	chr2	217001884	217001884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggccatagttcgatatgCttatgacaaaagagctaatc	10	7	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:217001884C>T	uc002vfy.2	+	11	1327	c.1187C>T	c.(1186-1188)GCT>GTT	p.A396V	XRCC5_uc002vfz.2_Missense_Mutation_p.A282V	NM_021141	NP_066964	P13010	XRCC5_HUMAN	ATP-dependent DNA helicase II	396	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			lung(1)|kidney(1)	2		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GTTCGATATGCTTATGACAAA	0.398								Direct_reversal_of_damage|NHEJ					T	217001884	C	T	217001884	3	4	136	1	0	0	0	0	1	0	0	0	17453	797	28	2	1229	2	XRCC5	2	217001884	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	1161266	217001884	26197489	121	78943											
USP37	57695	broad.mit.edu	37	chr2	219341575	219341575	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacttactttttccaggtcTtcctgctgctgttcgttgcc	7	12	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:219341575T>C	uc002vie.2	-	19	2484	c.2031A>G	c.(2029-2031)GAA>GAG	p.E677E	USP37_uc010fvs.1_Silent_p.E677E|USP37_uc010zkf.1_Silent_p.E677E|USP37_uc002vif.2_Silent_p.E677E|USP37_uc002vig.2_Silent_p.E583E	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	677					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTTCCAGGTCTTCCTGCTGCT	0.383													C	219341575	T	C	219341575	2	2	136	1	0	0	0	0	0	0	0	1	17065	1606	56	3		3	USP37	2	219341575	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	2339691	219341575	23857798	122	78944											
ZFAND2B	130617	broad.mit.edu	37	chr2	220072471	220072471	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcacattgacagagactgTcgctctgatccagcacagca	10	12	1	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:220072471T>C	uc002vka.2	+	3	424	c.252T>C	c.(250-252)TGT>TGC	p.C84C	ZFAND2B_uc010zkt.1_Silent_p.C84C|ZFAND2B_uc010fwd.1_Silent_p.C84C|ZFAND2B_uc002vjy.1_Silent_p.C84C|ZFAND2B_uc002vjz.1_Silent_p.C84C|ZFAND2B_uc002vkb.1_5'UTR	NM_138802	NP_620157	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	84						endoplasmic reticulum	protein binding|zinc ion binding				0		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAGAGACTGTCGCTCTGATC	0.547													C	220072471	T	C	220072471	2	2	136	1	0	0	0	0	0	0	0	1	17625	1673	58	3		3	ZFAND2B	2	220072471	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	730896	220072471	23126902	123	78945											
WDR69	164781	broad.mit.edu	37	chr2	228769686	228769686	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttgtcatttaacacctcAggagacagaatcatcacggg	8	11	4	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:228769686A>C	uc002vpn.1	+	8	769	c.690A>C	c.(688-690)TCA>TCC	p.S230S	WDR69_uc010zlw.1_Silent_p.S215S|WDR69_uc002vpo.1_RNA	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	WD repeat domain 69	230	WD 4.									breast(1)	1		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TTAACACCTCAGGAGACAGAA	0.408													C	228769686	A	C	228769686	2	2	136	1	0	0	0	0	0	0	0	1	17316	175	7	5		5	WDR69	2	228769686	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	8697215	228769686	14429687	124	78946											
SPHKAP	80309	broad.mit.edu	37	chr2	228890176	228890176	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttaggacaacaatttcattTtcttttggttgttggacatt	7	6	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:228890176T>G	uc002vpq.2	-	5	422	c.375A>C	c.(373-375)GAA>GAC	p.E125D	SPHKAP_uc002vpp.2_Missense_Mutation_p.E125D|SPHKAP_uc010zlx.1_Missense_Mutation_p.E125D	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	125						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAATTTCATTTTCTTTTGGTT	0.363													G	228890176	T	G	228890176	3	3	136	1	0	0	0	0	1	0	0	0	15047	1838	64	5	4759	5	SPHKAP	2	228890176	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	120490	228890176	14309197	125	78947											
SLC16A14	151473	broad.mit.edu	37	chr2	230902235	230902235	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcatatttttgcgtgatgTcatagatccaccctacaaaa	5	9	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:230902235T>G	uc002vqd.1	-	5	1757	c.1394A>C	c.(1393-1395)GAC>GCC	p.D465A	FBXO36_uc010fxi.1_Intron	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	465	Cytoplasmic (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TTGCGTGATGTCATAGATCCA	0.338													G	230902235	T	G	230902235	3	3	136	1	0	0	0	0	1	0	0	0	14407	1667	58	5	142	5	SLC16A14	2	230902235	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	2012059	230902235	12297138	126	78948											
CAB39	51719	broad.mit.edu	37	chr2	231678800	231678800	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagttacttcattcagaaAattatgtgacaaaaagacag	7	5	2	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:231678800A>C	uc002vqx.2	+	7	1096	c.664A>C	c.(664-666)AAT>CAT	p.N222H	CAB39_uc010fxr.2_Missense_Mutation_p.N222H|CAB39_uc010fxq.2_Missense_Mutation_p.N222H|CAB39_uc002vqy.2_5'UTR	NM_016289	NP_057373	Q9Y376	CAB39_HUMAN	calcium binding protein 39	222					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)	1		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		TCATTCAGAAAATTATGTGAC	0.204													C	231678800	A	C	231678800	3	2	136	1	0	0	0	0	1	0	0	0	2525	14	1	5	686	5	CAB39	2	231678800	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	776565	231678800	11520573	127	78949											
COL6A3	1293	broad.mit.edu	37	chr2	238289663	238289663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgaacaccagggaggagtCgaaagcgatctcttccagct	12	10	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:238289663C>T	uc002vwl.2	-	5	2077	c.1792G>A	c.(1792-1794)GAC>AAC	p.D598N	COL6A3_uc002vwo.2_Missense_Mutation_p.D392N|COL6A3_uc010znj.1_Missense_Mutation_p.D191N|COL6A3_uc002vwq.2_Missense_Mutation_p.D392N|COL6A3_uc002vwr.2_Missense_Mutation_p.D191N|COL6A3_uc010znk.1_Missense_Mutation_p.D598N	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	598	VWFA 3.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGGAGGAGTCGAAAGCGATC	0.592													T	238289663	C	T	238289663	3	4	136	1	0	0	0	0	1	0	0	0	3701	884	31	1	7948	1	COL6A3	2	238289663	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	6610863	238289663	4909710	128	78950											
PPP1R7	5510	broad.mit.edu	37	chr2	242105831	242105831	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttagccacaatggcatcgAggtcatcgagggcctggaga	13	11	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr2:242105831A>C	uc002wat.1	+	8	809	c.794A>C	c.(793-795)GAG>GCG	p.E265A	PPP1R7_uc010fzm.1_Missense_Mutation_p.E249A|PPP1R7_uc002war.2_Missense_Mutation_p.E259A|PPP1R7_uc002was.2_Missense_Mutation_p.E265A|PPP1R7_uc002wau.1_Missense_Mutation_p.E222A|PPP1R7_uc002wav.1_Missense_Mutation_p.E191A	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	265	LRR 9.					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			ovary(3)	3		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		AATGGCATCGAGGTCATCGAG	0.617													C	242105831	A	C	242105831	3	2	136	1	0	0	0	0	1	0	0	0	12376	304	11	5	824	5	PPP1R7	2	242105831	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	3816168	242105831	1093542	129	78951											
CHL1	10752	broad.mit.edu	37	chr3	447378	447378	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggaagttctacagcaacttTtccccttcgggcataaacac	7	12	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:447378T>A	uc003bou.2	+	27	3882	c.3611T>A	c.(3610-3612)TTT>TAT	p.F1204Y	CHL1_uc003bot.2_Missense_Mutation_p.F1220Y|CHL1_uc011asi.1_Missense_Mutation_p.F1167Y	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	1204	Cytoplasmic (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ACAGCAACTTTTCCCCTTCGG	0.428													A	447378	T	A	447378	3	1	136	1	0	0	0	0	1	0	0	0	3349	1841	64	5	3761	5	CHL1	3	447378	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08		447378	197575052	130	78952											
LMCD1	29995	broad.mit.edu	37	chr3	8543665	8543665	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctcaacccaggagttaaaaAggtgagtggaaagctgtttg	12	7	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:8543665A>T	uc003bqq.2	+	1	155	c.41A>T	c.(40-42)AAG>ATG	p.K14M	uc003bqp.2_5'Flank|LMCD1_uc011atd.1_Translation_Start_Site|LMCD1_uc011ate.1_Translation_Start_Site	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	14					positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GGAGTTAAAAAGGTGAGTGGA	0.522													T	8543665	A	T	8543665	3	4	136	1	0	0	0	0	1	0	0	0	8844	86	3	5	43	5	LMCD1	3	8543665	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	8096287	8543665	189478765	131	78953											
SRGAP3	9901	broad.mit.edu	37	chr3	9055164	9055164	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatgagggtaggcccgaAgcagatggccaggttgtagg	18	7	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:9055164A>C	uc003brf.1	-	17	2651	c.1975T>G	c.(1975-1977)TTC>GTC	p.F659V	SRGAP3_uc003brg.1_Missense_Mutation_p.F635V	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	659	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GTAGGCCCGAAGCAGATGGCC	0.527			T	RAF1	pilocytic astrocytoma								C	9055164	A	C	9055164	3	2	136	1	0	0	0	0	1	0	0	0	15146	72	3	5	1348	5	SRGAP3	3	9055164	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	511499	9055164	188967266	132	78954											
SLC6A11	6538	broad.mit.edu	37	chr3	10861460	10861460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtactacatcatcatcctggCatgggccattttttacctga	7	11	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:10861460C>T	uc003bvz.2	+	3	489	c.455C>T	c.(454-456)GCA>GTA	p.A152V	SLC6A11_uc003bvy.1_Missense_Mutation_p.A152V	NM_014229	NP_055044	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter	152	Extracellular (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.229)		ATCATCCTGGCATGGGCCATT	0.493													T	10861460	C	T	10861460	3	4	136	1	0	0	0	0	1	0	0	0	14674	710	25	2	465	2	SLC6A11	3	10861460	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	1806296	10861460	187160970	133	78955											
KCNH8	131096	broad.mit.edu	37	chr3	19492867	19492867	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgggctccatggaagttcTtaaagacagcatggtgctgg	13	9	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:19492867T>G	uc003cbk.1	+	10	1991	c.1796T>G	c.(1795-1797)CTT>CGT	p.L599R	KCNH8_uc011awe.1_3'UTR|KCNH8_uc010hex.1_Missense_Mutation_p.L60R|KCNH8_uc011awf.1_3'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	599	cNMP.|Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						ATGGAAGTTCTTAAAGACAGC	0.448													G	19492867	T	G	19492867	3	3	136	1	0	0	0	0	1	0	0	0	8038	1609	56	5	1834	5	KCNH8	3	19492867	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	8631407	19492867	178529563	134	78956											
CMTM6	54918	broad.mit.edu	37	chr3	32525568	32525568	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcaagtaggaacataaAacttgctataaatccaaaca	5	7	1	0	rs112118640		TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:32525568A>C	uc003cfa.1	-	4	602	c.436T>G	c.(436-438)TTT>GTT	p.F146V		NM_017801	NP_060271	Q9NX76	CKLF6_HUMAN	CKLF-like MARVEL transmembrane domain containing	146	MARVEL.|Helical; (Potential).				chemotaxis	extracellular space|integral to membrane	cytokine activity				0						AGGAACATAAAACTTGCTATA	0.378													C	32525568	A	C	32525568	3	2	136	1	0	0	0	0	1	0	0	0	3587	14	1	5	119	5	CMTM6	3	32525568	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	13032701	32525568	165496862	135	78957											
GOLGA4	2803	broad.mit.edu	37	chr3	37368800	37368800	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaaaaaaacaagaaatAttccttgatagtagcccagc	7	7	0	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:37368800A>G	uc003cgv.2	+	14	5727	c.5423A>G	c.(5422-5424)TAT>TGT	p.Y1808C	GOLGA4_uc010hgr.1_Missense_Mutation_p.Y1369C|GOLGA4_uc003cgw.2_Missense_Mutation_p.Y1830C|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.Y1689C	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	1808	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						AACAAGAAATATTCCTTGATA	0.383													G	37368800	A	G	37368800	3	3	136	1	0	0	0	0	1	0	0	0	6555	449	16	3	5547	3	GOLGA4	3	37368800	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	4843232	37368800	160653630	136	78958											
ITGA9	3680	broad.mit.edu	37	chr3	37574896	37574896	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcacgacggacagcagcctGtgaactgcctgaacgtcacc	11	14	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:37574896G>T	uc003chd.2	+	14	1518	c.1465G>T	c.(1465-1467)GTG>TTG	p.V489L	ITGA9_uc003chc.2_Missense_Mutation_p.V489L	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	489	Extracellular (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		ACAGCAGCCTGTGAACTGCCT	0.567													T	37574896	G	T	37574896	3	4	136	1	0	0	0	0	1	0	0	0	7883	1377	48	5	1519	5	ITGA9	3	37574896	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	206096	37574896	160447534	137	78959											
SCN11A	11280	broad.mit.edu	37	chr3	38950547	38950547	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catcttttccttggcctctaTctctgcagctacattcttgt	5	13	4	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:38950547T>A	uc011ays.1	-	9	1439	c.1240A>T	c.(1240-1242)ATA>TTA	p.I414L		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	414					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTGGCCTCTATCTCTGCAGCT	0.493													A	38950547	T	A	38950547	3	1	136	1	0	0	0	0	1	0	0	0	13913	1435	50	5	4207	5	SCN11A	3	38950547	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1375651	38950547	159071883	138	78960											
SLC25A38	54977	broad.mit.edu	37	chr3	39433052	39433052	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtcatgctgggggtgggcTctcgctctgttgcaggggtc	17	10	3	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:39433052T>C	uc003cjo.2	+	4	798	c.397T>C	c.(397-399)TCT>CCT	p.S133P		NM_017875	NP_060345	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	133	Solcar 2.|Helical; Name=3; (Potential).				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGGGGTGGGCTCTCGCTCTGT	0.527													C	39433052	T	C	39433052	3	2	136	1	0	0	0	0	1	0	0	0	14502	1551	54	3	411	3	SLC25A38	3	39433052	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	482505	39433052	158589378	139	78961											
ZNF621	285268	broad.mit.edu	37	chr3	40573631	40573631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcaggaacgtttctcagCactttgattttaaaaggaag	8	7	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:40573631C>T	uc003ckm.2	+	5	586	c.370C>T	c.(370-372)CAC>TAC	p.H124Y	ZNF621_uc003ckn.2_Missense_Mutation_p.H124Y|ZNF621_uc003cko.2_Missense_Mutation_p.H89Y|ZNF621_uc011aze.1_Missense_Mutation_p.H116Y	NM_001098414	NP_001091884	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CGTTTCTCAGCACTTTGATTT	0.403													T	40573631	C	T	40573631	3	4	136	1	0	0	0	0	1	0	0	0	18042	710	25	2	384	2	ZNF621	3	40573631	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	1140579	40573631	157448799	140	78962											
NME6	10201	broad.mit.edu	37	chr3	48336623	48336623	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactcccacggatagaatcTggggccacatggcgtgctcg	12	12	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:48336623T>C	uc003csp.3	-	5	387	c.336A>G	c.(334-336)CCA>CCG	p.P112P	NME6_uc003cso.2_Silent_p.P120P|NME6_uc011bbh.1_Missense_Mutation_p.Q99R|NME6_uc010hju.2_Silent_p.P14P|NME6_uc011bbi.1_Intron	NM_005793	NP_005784	O75414	NDK6_HUMAN	nucleoside diphosphate kinase type 6	112					anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity				0				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GGATAGAATCTGGGGCCACAT	0.587													C	48336623	T	C	48336623	2	2	136	1	0	0	0	0	0	0	0	1	10495	1567	55	3		3	NME6	3	48336623	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	7762992	48336623	149685807	141	78963											
PBRM1	55193	broad.mit.edu	37	chr3	52620667	52620667	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attcacagacaaaaacatccTcatctcggaagttttctggg	7	10	4	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:52620667T>A	uc003des.2	-	20	3173	c.3161A>T	c.(3160-3162)GAG>GTG	p.E1054V	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.E1054V|PBRM1_uc003der.2_Missense_Mutation_p.E1022V|PBRM1_uc003det.2_Missense_Mutation_p.E1069V|PBRM1_uc003deu.2_Missense_Mutation_p.E1069V|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.E1054V|PBRM1_uc010hmk.1_Missense_Mutation_p.E1029V|PBRM1_uc003dey.2_Missense_Mutation_p.E1029V|PBRM1_uc003dez.1_Missense_Mutation_p.E1053V|PBRM1_uc003dfb.1_Missense_Mutation_p.E966V|PBRM1_uc003dfa.1_Missense_Mutation_p.E400V	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	1054	BAH 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AAAAACATCCTCATCTCGGAA	0.398			Mis|N|F|S|D|O		clear cell renal carcinoma|breast								A	52620667	T	A	52620667	3	1	136	1	0	0	0	0	1	0	0	0	11491	1551	54	5	1783	5	PBRM1	3	52620667	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	4284044	52620667	145401763	142	78964											
IL17RD	54756	broad.mit.edu	37	chr3	57131970	57131970	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcacatgacatcatttaaAaccaagcccgaatcaaattt	4	10	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:57131970A>C	uc003dil.2	-	12	1850	c.1761T>G	c.(1759-1761)GTT>GTG	p.V587V	IL17RD_uc003dik.2_Silent_p.V563V|IL17RD_uc010hna.2_Silent_p.V443V|IL17RD_uc011bex.1_Silent_p.V443V	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D precursor	587	Cytoplasmic (Potential).					Golgi membrane|integral to membrane|plasma membrane	receptor activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CATCATTTAAAACCAAGCCCG	0.557													C	57131970	A	C	57131970	2	2	136	1	0	0	0	0	0	0	0	1	7642	1	1	5		5	IL17RD	3	57131970	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	4511303	57131970	140890460	143	78965											
EPHA3	2042	broad.mit.edu	37	chr3	89498524	89498524	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggagatgtccaatcaggaTgtaagtatttgtggtctatg	13	4	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:89498524T>C	uc003dqy.2	+	14	2721	c.2496T>C	c.(2494-2496)GAT>GAC	p.D832D	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	832	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCAATCAGGATGTAAGTATTT	0.438										TSP Lung(6;0.00050)			C	89498524	T	C	89498524	2	2	136	1	0	0	0	0	0	0	0	1	5168	1478	51	3		3	EPHA3	3	89498524	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	32366554	89498524	108523906	144	78966											
PROS1	5627	broad.mit.edu	37	chr3	93596037	93596037	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caacagataacagaatatccTgaagagcagagcaaagattc	8	8	0	6			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:93596037T>A	uc003drb.3	-	14	1986	c.1645_splice	c.e14-1	p.D549_splice	PROS1_uc010hoo.2_Splice_Site_p.D418_splice|PROS1_uc003dqz.3_Splice_Site_p.D418_splice	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein						leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CAGAATATCCTGAAGAGCAGA	0.338													A	93596037	T	A	93596037	5	1	136	1	0	0	0	0	0	0	1	0	12558	1594	55	5	395	5	PROS1	3	93596037	Splice_Site	SNP	T	TCGA-CD-5801-01A-11D-1600-08	4097513	93596037	104426393	145	78967											
OR5H1	26341	broad.mit.edu	37	chr3	97852429	97852429	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tacagtctgagaaataagcaAgtcacagtttcattcacaaa	6	8	4	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:97852429A>T	uc011bgt.1	+	1	888	c.888A>T	c.(886-888)CAA>CAT	p.Q296H		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						GAAATAAGCAAGTCACAGTTT	0.323													T	97852429	A	T	97852429	3	4	136	1	0	0	0	0	1	0	0	0	11159	69	3	5	890	5	OR5H1	3	97852429	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	4256392	97852429	100170001	146	78968											
ZBTB11	27107	broad.mit.edu	37	chr3	101371354	101371354	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttaccttcatggttgttcAtgtgtctcctatactctctt	6	10	4	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:101371354A>C	uc003dve.3	-	10	2860	c.2630T>G	c.(2629-2631)ATG>AGG	p.M877R		NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	877	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						ATGGTTGTTCATGTGTCTCCT	0.398													C	101371354	A	C	101371354	3	2	136	1	0	0	0	0	1	0	0	0	17521	217	8	5	539	5	ZBTB11	3	101371354	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	3518925	101371354	96651076	147	78969											
ALCAM	214	broad.mit.edu	37	chr3	105243281	105243281	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taatgcaaggatcagtgatgAaaagagatttgtgtgcatgc	12	4	1	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:105243281A>C	uc003dvx.2	+	3	863	c.323A>C	c.(322-324)GAA>GCA	p.E108A	ALCAM_uc003dvv.2_Missense_Mutation_p.E108A|ALCAM_uc003dvw.1_Missense_Mutation_p.E108A|ALCAM_uc003dvy.2_Missense_Mutation_p.E108A|ALCAM_uc011bhh.1_Missense_Mutation_p.E57A	NM_001627	NP_001618	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	108	Extracellular (Potential).|Ig-like V-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(2)|breast(1)	3						ATCAGTGATGAAAAGAGATTT	0.413													C	105243281	A	C	105243281	3	2	136	1	0	0	0	0	1	0	0	0	487	246	9	5	333	5	ALCAM	3	105243281	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	3871927	105243281	92779149	148	78970											
IFT57	55081	broad.mit.edu	37	chr3	107881466	107881466	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctacagtttcttgcttcAgttttgttaagctctgttta	6	8	4	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:107881466A>G	uc003dwx.3	-	11	1396	c.1148T>C	c.(1147-1149)CTG>CCG	p.L383P		NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	estrogen-related receptor beta like 1	383	pDED.				activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			ovary(1)|skin(1)|pancreas(1)	3			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			TTCTTGCTTCAGTTTTGTTAA	0.363													G	107881466	A	G	107881466	3	3	136	1	0	0	0	0	1	0	0	0	7562	188	7	3	145	3	IFT57	3	107881466	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	2638185	107881466	90140964	149	78971											
MYH15	22989	broad.mit.edu	37	chr3	108118049	108118049	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagccgggtaacctcaAttctgctcttagcttcagaa	7	12	6	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:108118049A>T	uc003dxa.1	-	35	4919	c.4862T>A	c.(4861-4863)ATT>AAT	p.I1621N		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1621	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						GGTAACCTCAATTCTGCTCTT	0.478													T	108118049	A	T	108118049	3	4	136	1	0	0	0	0	1	0	0	0	10034	101	4	5	1010	5	MYH15	3	108118049	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	236583	108118049	89904381	150	78972											
GRAMD1C	54762	broad.mit.edu	37	chr3	113652477	113652477	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatactgtatcatccgatcTtcaaaacagaaatgcaggct	7	9	3	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:113652477T>G	uc003eaq.3	+	12	1405	c.1329T>G	c.(1327-1329)TCT>TCG	p.S443S	GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA|GRAMD1C_uc003ear.2_Silent_p.S276S|GRAMD1C_uc003eas.2_Silent_p.S238S|GRAMD1C_uc003eat.2_Silent_p.S102S	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	443						integral to membrane				ovary(2)|skin(1)	3						TCATCCGATCTTCAAAACAGA	0.299													G	113652477	T	G	113652477	2	3	136	1	0	0	0	0	0	0	0	1	6749	1596	56	5		5	GRAMD1C	3	113652477	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	5534428	113652477	84369953	151	78973											
ZDHHC23	254887	broad.mit.edu	37	chr3	113672689	113672689	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcttgtcctgctgcctgtcTtccttcatgtggcttcctgg	10	14	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:113672689T>G	uc003eau.2	+	3	603	c.304T>G	c.(304-306)TTC>GTC	p.F102V	ZDHHC23_uc003eav.2_Missense_Mutation_p.F96V	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC domain containing 23	102	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			ovary(2)	2						GCTGCCTGTCTTCCTTCATGT	0.512													G	113672689	T	G	113672689	3	3	136	1	0	0	0	0	1	0	0	0	17611	1609	56	5	310	5	ZDHHC23	3	113672689	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	20212	113672689	84349741	152	78974											
ZDHHC23	254887	broad.mit.edu	37	chr3	113675244	113675244	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatacttgcccttttgatcTtcttgctcacctcggtgtat	6	11	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:113675244T>G	uc003eau.2	+	4	1230	c.931T>G	c.(931-933)TTC>GTC	p.F311V	ZDHHC23_uc003eav.2_Missense_Mutation_p.F305V|ZDHHC23_uc003eaw.1_5'Flank	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC domain containing 23	311	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			ovary(2)	2						CCTTTTGATCTTCTTGCTCAC	0.388													G	113675244	T	G	113675244	3	3	136	1	0	0	0	0	1	0	0	0	17611	1609	56	5	941	5	ZDHHC23	3	113675244	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	2555	113675244	84347186	153	78975											
ADPRH	141	broad.mit.edu	37	chr3	119306346	119306346	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaatgggaaaattacctaaAacttagagggattttggatg	10	4	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:119306346A>G	uc003ecs.2	+	5	993	c.695A>G	c.(694-696)AAA>AGA	p.K232R	ADPRH_uc010hqv.2_Missense_Mutation_p.K232R|ADPRH_uc011bjb.1_Missense_Mutation_p.K125R|ADPRH_uc003ect.2_Missense_Mutation_p.K232R	NM_001125	NP_001116	P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	232					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			ovary(1)	1		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		AATTACCTAAAACTTAGAGGG	0.408													G	119306346	A	G	119306346	3	3	136	1	0	0	0	0	1	0	0	0	331	14	1	3	705	3	ADPRH	3	119306346	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	5631102	119306346	78716084	154	78976											
PLA1A	51365	broad.mit.edu	37	chr3	119325745	119325745	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcctagctgtgggcagctAgtagaaggaagcagtgacct	13	8	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:119325745A>G	uc003ecu.2	+	2	237	c.198A>G	c.(196-198)CTA>CTG	p.L66L	PLA1A_uc003ecv.2_Silent_p.L66L|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Intron	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN	phospholipase A1 member A precursor	66					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						GTGGGCAGCTAGTAGAAGGAA	0.483													G	119325745	A	G	119325745	2	3	136	1	0	0	0	0	0	0	0	1	11988	407	15	3		3	PLA1A	3	119325745	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	19399	119325745	78696685	155	78977											
PARP9	83666	broad.mit.edu	37	chr3	122264287	122264287	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcttactcaccactgtaaTtgttcaaactcagcatcttg	4	11	5	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:122264287T>G	uc010hri.2	-	7	1626	c.1481A>C	c.(1480-1482)AAT>ACT	p.N494T	PARP9_uc003eff.3_Missense_Mutation_p.N459T|PARP9_uc011bjs.1_Missense_Mutation_p.N459T|PARP9_uc003efg.2_Missense_Mutation_p.N39T|PARP9_uc003efi.2_Missense_Mutation_p.N459T|PARP9_uc003efh.2_Missense_Mutation_p.N494T|PARP9_uc003efj.2_Missense_Mutation_p.N459T	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	494					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)|pancreas(1)|prostate(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0519)		ACCACTGTAATTGTTCAAACT	0.443													G	122264287	T	G	122264287	3	3	136	1	0	0	0	0	1	0	0	0	11466	1493	52	5	1156	5	PARP9	3	122264287	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	2938542	122264287	75758143	156	78978											
DIRC2	84925	broad.mit.edu	37	chr3	122591434	122591434	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttattttttctcacattTtatcatacaggtaagaaatt	3	6	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:122591434T>G	uc003efw.3	+	8	1450	c.1311T>G	c.(1309-1311)TTT>TTG	p.F437L	DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Missense_Mutation_p.F275L	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	437					transport	integral to membrane					0				GBM - Glioblastoma multiforme(114;0.0614)		TTCTCACATTTTATCATACAG	0.299													G	122591434	T	G	122591434	3	3	136	1	0	0	0	0	1	0	0	0	4534	1838	64	5	1341	5	DIRC2	3	122591434	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	327147	122591434	75430996	157	78979											
PODXL2	50512	broad.mit.edu	37	chr3	127379476	127379476	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaagaagccaagcctcAggtccgtgacttttctctca	8	13	3	3	rs115568415	byFrequency	TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:127379476A>C	uc003ejq.2	+	3	629	c.605A>C	c.(604-606)CAG>CCG	p.Q202P		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2 precursor	202	Extracellular (Potential).				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			ovary(1)|central_nervous_system(1)	2						GCCAAGCCTCAGGTCCGTGAC	0.418													C	127379476	A	C	127379476	3	2	136	1	0	0	0	0	1	0	0	0	12181	188	7	5	615	5	PODXL2	3	127379476	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	4788042	127379476	70642954	158	78980											
IFT122	55764	broad.mit.edu	37	chr3	129182431	129182431	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctcctgaacagaagtctgtCtccaaacacaaatcaagcag	6	12	4	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:129182431C>G	uc003emm.2	+	6	584	c.378C>G	c.(376-378)GTC>GTG	p.V126V	IFT122_uc003eml.2_Silent_p.V177V|IFT122_uc003emn.2_Silent_p.V126V|IFT122_uc003emo.2_Silent_p.V74V|IFT122_uc003emp.2_5'UTR|IFT122_uc010htc.2_Silent_p.V177V|IFT122_uc011bky.1_5'UTR|IFT122_uc003emq.2_Silent_p.V74V|IFT122_uc003emr.2_5'UTR|IFT122_uc011bla.1_5'UTR|IFT122_uc011bkx.1_Silent_p.V74V|IFT122_uc011bkz.1_RNA	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	126	WD 3.				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						AGAAGTCTGTCTCCAAACACA	0.338													G	129182431	C	G	129182431	2	3	136	1	0	0	0	0	0	0	0	1	7555	900	32	5		5	IFT122	3	129182431	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	1802955	129182431	68839999	159	78981											
STAG1	10274	broad.mit.edu	37	chr3	136162135	136162135	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaaaatactataccttcctCtccttgaacaggttcttcta	3	12	4	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:136162135C>T	uc003era.1	-	15	1832	c.1540G>A	c.(1540-1542)GAG>AAG	p.E514K	STAG1_uc003erb.1_Missense_Mutation_p.E514K|STAG1_uc003erc.1_Missense_Mutation_p.E288K|STAG1_uc010hua.1_Missense_Mutation_p.E377K	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	514					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						ATACCTTCCTCTCCTTGAACA	0.358													T	136162135	C	T	136162135	3	4	136	1	0	0	0	0	1	0	0	0	15241	922	32	4	2316	4	STAG1	3	136162135	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	6979704	136162135	61860295	160	78982											
DZIP1L	199221	broad.mit.edu	37	chr3	137786411	137786411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggcattctcctccgagGtctctgtgtcagaccagtcc	11	14	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:137786411G>A	uc003erq.2	-	14	2327	c.1964C>T	c.(1963-1965)ACC>ATC	p.T655I		NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	655						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						CTCCTCCGAGGTCTCTGTGTC	0.637													A	137786411	G	A	137786411	3	1	136	1	0	0	0	0	1	0	0	0	4864	1261	44	4	351	4	DZIP1L	3	137786411	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	1624276	137786411	60236019	161	78983											
CLSTN2	64084	broad.mit.edu	37	chr3	140275381	140275381	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaacccctcgcagtccatCctggtgatggaaggtgacga	11	12	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:140275381C>T	uc003etn.2	+	11	1891	c.1701C>T	c.(1699-1701)ATC>ATT	p.I567I	CLSTN2_uc003etm.2_Silent_p.I567I	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	567	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						CGCAGTCCATCCTGGTGATGG	0.517										HNSCC(16;0.037)			T	140275381	C	T	140275381	2	4	136	1	0	0	0	0	0	0	0	1	3562	845	30	4		4	CLSTN2	3	140275381	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	2488970	140275381	57747049	162	78984											
IGSF10	285313	broad.mit.edu	37	chr3	151155183	151155183	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaaccattgcttgctatcAgatactgataactttgtggt	8	7	1	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:151155183A>G	uc011bod.1	-	6	7166	c.7166T>C	c.(7165-7167)CTG>CCG	p.L2389P	IGSF10_uc011bob.1_Missense_Mutation_p.L416P|IGSF10_uc011boc.1_Missense_Mutation_p.L368P	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	2389	Ig-like C2-type 10.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTTGCTATCAGATACTGATA	0.388													G	151155183	A	G	151155183	3	3	136	1	0	0	0	0	1	0	0	0	7597	188	7	3	709	3	IGSF10	3	151155183	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	10879802	151155183	46867247	163	78985											
KCNAB1	7881	broad.mit.edu	37	chr3	156170727	156170727	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtcaaatttcagatgaggTaagttacctttggcctctat	9	7	3	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:156170727T>C	uc003far.2	+	3	421	c.357_splice	c.e3+2	p.E119_splice	KCNAB1_uc011bon.1_Splice_Site_p.E119_splice|KCNAB1_uc003fas.2_Splice_Site_p.E108_splice|KCNAB1_uc003fat.2_Splice_Site_p.E101_splice|KCNAB1_uc010hvt.1_Splice_Site_p.E101_splice	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related							cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCAGATGAGGTAAGTTACCTT	0.368													C	156170727	T	C	156170727	5	2	136	1	0	0	0	0	0	0	1	0	8009	1652	57	3	840	3	KCNAB1	3	156170727	Splice_Site	SNP	T	TCGA-CD-5801-01A-11D-1600-08	5015544	156170727	41851703	164	78986											
SHOX2	6474	broad.mit.edu	37	chr3	157818055	157818055	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagcatacctttatggagttGattttcttgttttctacatt	6	6	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:157818055G>C	uc003fbr.2	-	3	740	c.601C>G	c.(601-603)CAA>GAA	p.Q201E	SHOX2_uc003fbs.2_Missense_Mutation_p.Q225E|SHOX2_uc010hvw.2_Missense_Mutation_p.Q201E	NM_006884	NP_006875	O60902	SHOX2_HUMAN	short stature homeobox 2 isoform a	201					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTATGGAGTTGATTTTCTTGT	0.308													C	157818055	G	C	157818055	3	2	136	1	0	0	0	0	1	0	0	0	14289	1299	45	5	406	5	SHOX2	3	157818055	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	1647328	157818055	40204375	165	78987											
PIK3CA	5290	broad.mit.edu	37	chr3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtgcaacctacgtgaaTgtaaatattcgagacattga	8	7	0	3	rs121913284		TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:178921553T>A	uc003fjk.2	+	5	1192	c.1035T>A	c.(1033-1035)AAT>AAA	p.N345K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	345					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N345K(29)|p.N345I(2)|p.N345S(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCTACGTGAATGTAAATATTC	0.308		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178921553	T	A	178921553	3	1	136	1	0	0	0	0	1	0	0	0	11913	1461	51	5	1049	5	PIK3CA	3	178921553	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	21103498	178921553	19100877	166	78988											
USP13	8975	broad.mit.edu	37	chr3	179426569	179426569	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atggctttccagtggttggaAgtgtgccagatgcgacctgc	14	9	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:179426569A>T	uc003fkh.2	+	6	710	c.629A>T	c.(628-630)AAG>ATG	p.K210M	USP13_uc003fkf.2_Missense_Mutation_p.K210M	NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	210	UBP-type.				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AGTGGTTGGAAGTGTGCCAGA	0.493													T	179426569	A	T	179426569	3	4	136	1	0	0	0	0	1	0	0	0	17041	72	3	5	651	5	USP13	3	179426569	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	505016	179426569	18595861	167	78989											
EIF2B5	8893	broad.mit.edu	37	chr3	183861999	183861999	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagcatgaagctcttggtaTttccatggccaaggtgaata	11	7	1	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:183861999T>C	uc003fmp.2	+	14	2346	c.1982T>C	c.(1981-1983)ATT>ACT	p.I661T	EIF2B5_uc003fmq.2_Missense_Mutation_p.I382T|EIF2B5_uc003fmr.2_Missense_Mutation_p.I69T	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B,	661	W2.				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			ovary(5)	5	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCTCTTGGTATTTCCATGGCC	0.478													C	183861999	T	C	183861999	3	2	136	1	0	0	0	0	1	0	0	0	5004	1493	52	3	2036	3	EIF2B5	3	183861999	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	4435430	183861999	14160431	168	78990											
PSMD2	5708	broad.mit.edu	37	chr3	184023845	184023845	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatctgtcctgtagggaAgggtgaggccatcgaggcaa	15	7	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:184023845A>C	uc003fnn.1	+	14	1739	c.1706A>C	c.(1705-1707)AAG>ACG	p.K569T	PSMD2_uc011brj.1_Missense_Mutation_p.K410T|PSMD2_uc011brk.1_Missense_Mutation_p.K439T	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	569	PC 5.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CCTGTAGGGAAGGGTGAGGCC	0.532											OREG0015947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	184023845	A	C	184023845	3	2	136	1	0	0	0	0	1	0	0	0	12698	72	3	5	1760	5	PSMD2	3	184023845	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	161846	184023845	13998585	169	78991											
VPS8	23355	broad.mit.edu	37	chr3	184700383	184700383	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttccgttattggaggcaatGatggcccctcagaagctgtc	11	10	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:184700383G>A	uc003fpb.1	+	40	3615	c.3444G>A	c.(3442-3444)ATG>ATA	p.M1148I	VPS8_uc010hyd.1_Missense_Mutation_p.M1058I|VPS8_uc010hye.1_Missense_Mutation_p.M577I	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	1150							zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TGGAGGCAATGATGGCCCCTC	0.393													A	184700383	G	A	184700383	3	1	136	1	0	0	0	0	1	0	0	0	17215	1290	45	4	3604	4	VPS8	3	184700383	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	676538	184700383	13322047	170	78992											
MAP3K13	9175	broad.mit.edu	37	chr3	185191526	185191526	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacccctccagcgctacctCgaaaaacaaggcctctgcag	8	17	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:185191526C>T	uc010hyf.2	+	12	2673	c.2407C>T	c.(2407-2409)CGA>TGA	p.R803*	MAP3K13_uc011brt.1_Nonsense_Mutation_p.R596*|MAP3K13_uc011bru.1_Nonsense_Mutation_p.R659*|MAP3K13_uc003fpi.2_Nonsense_Mutation_p.R803*|MAP3K13_uc010hyg.2_Nonsense_Mutation_p.R493*	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	803					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGCGCTACCTCGAAAAACAAG	0.507													T	185191526	C	T	185191526	4	4	136	1	0	0	0	0	0	1	0	0	9247	876	31	1	2445	1	MAP3K13	3	185191526	Nonsense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	491143	185191526	12830904	171	78993											
RPL35A	6165	broad.mit.edu	37	chr3	197678096	197678098	+	In_Frame_Del	DEL	TCT	TCT	-													aaccaaagggagcacacagcTcttcttaaaattgaaggtgt					rs116840807		TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr3:197678095_197678097CTCT>C	uc003fyr.3	+	2	150_152	c.77_79CTCT>C	c.(76-81)gctctt>gCtt	p.L28del	IQCG_uc003fyo.3_5'Flank|IQCG_uc003fyp.3_Intron|IQCG_uc003fyq.4_5'Flank|RPL35A_uc003fys.3_In_Frame_Del_p.L28del	NM_000996	NP_000987	P18077	RL35A_HUMAN	Homo sapiens ribosomal protein L35a (RPL35A), mRNA.	28					endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome|tRNA binding			lung(1)|prostate(1)|urinary_tract(1)	3	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;1.04e-23)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.182)		GAGCACACAGCTCTTCTTAAAAT	0.419													-	197678098	TCT	-	197678096	7	5	136	1	0	1	0	1	0	0	0	0	13585	1538	54	0	84	0	RPL35A	3	197678096	In_Frame_Del	DEL	TCT	TCGA-CD-5801-01A-11D-1600-08	12486570	197678096	344334	172	78994											
POLN	353497	broad.mit.edu	37	chr4	2077220	2077220	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcttccacttcaaacagcAgctcatcatggatctgggcc	8	13	5	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr4:2077220A>G	uc003ger.2	-	22	2414	c.2414T>C	c.(2413-2415)CTG>CCG	p.L805P	POLN_uc010icg.1_Missense_Mutation_p.L253P	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	805					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TTCAAACAGCAGCTCATCATG	0.622								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					G	2077220	A	G	2077220	3	3	136	1	0	0	0	0	1	0	0	0	12207	188	7	3	300	3	POLN	4	2077220	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08		2077220	189077056	173	78995											
JAKMIP1	152789	broad.mit.edu	37	chr4	6082037	6082037	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcgctgacagcttttcTttctgcagccacagggagac	11	13	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr4:6082037T>C	uc003giu.3	-	7	1380	c.1104A>G	c.(1102-1104)AAA>AAG	p.K368K	JAKMIP1_uc010idb.1_Silent_p.K368K|JAKMIP1_uc010idc.1_Silent_p.K203K|JAKMIP1_uc010idd.1_Silent_p.K368K|JAKMIP1_uc011bwc.1_Silent_p.K203K|JAKMIP1_uc003giv.3_Silent_p.K368K|JAKMIP1_uc010ide.2_Silent_p.K368K	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	368	Mediates interaction with TYK2 and GABBR1.|Potential.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						ACAGCTTTTCTTTCTGCAGCC	0.582													C	6082037	T	C	6082037	2	2	136	1	0	0	0	0	0	0	0	1	7940	1606	56	3		3	JAKMIP1	4	6082037	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	4004817	6082037	185072239	174	78996											
SLC10A4	201780	broad.mit.edu	37	chr4	48490855	48490855	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatgaagatacagatattTcttataaaaaactaaaagaa	5	3	1	5			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr4:48490855T>C	uc003gyc.2	+	3	1432	c.1213T>C	c.(1213-1215)TCT>CCT	p.S405P	ZAR1_uc003gyd.2_5'Flank	NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	405	Extracellular (Potential).					integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)	1						TACAGATATTTCTTATAAAAA	0.358													C	48490855	T	C	48490855	3	2	136	1	0	0	0	0	1	0	0	0	14376	1783	62	3	1223	3	SLC10A4	4	48490855	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	42408818	48490855	142663421	175	78997											
UGT2B7	7364	broad.mit.edu	37	chr4	69964267	69964267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcctgtcaggaagacccaCtacattatctgagacaatgg	8	10	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr4:69964267C>T	uc003heg.3	+	2	777	c.731C>T	c.(730-732)ACT>ATT	p.T244I	UGT2B7_uc010ihq.2_Missense_Mutation_p.T244I	NM_001074	NP_001065	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2B7 precursor	244					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|skin(1)	2						GGAAGACCCACTACATTATCT	0.353													T	69964267	C	T	69964267	3	4	136	1	0	0	0	0	1	0	0	0	16959	565	20	4	737	4	UGT2B7	4	69964267	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	21473412	69964267	121190009	176	78998											
UGT2B7	7364	broad.mit.edu	37	chr4	69973826	69973826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcatccaatcctaggtcatCcaaagaccagagcttttata	5	11	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr4:69973826C>T	uc003heg.3	+	5	1142	c.1096C>T	c.(1096-1098)CCA>TCA	p.P366S	UGT2B7_uc010ihq.2_Intron	NM_001074	NP_001065	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2B7 precursor	366					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|skin(1)	2						CCTAGGTCATCCAAAGACCAG	0.418													T	69973826	C	T	69973826	3	4	136	1	0	0	0	0	1	0	0	0	16959	855	30	4	1114	4	UGT2B7	4	69973826	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	9559	69973826	121180450	177	78999											
ANKRD17	26057	broad.mit.edu	37	chr4	74019707	74019707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttccacatgtccagcacttCcagcttccataagaggggta	8	13	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr4:74019707C>T	uc003hgp.2	-	6	1241	c.1124G>A	c.(1123-1125)GGA>GAA	p.G375E	ANKRD17_uc003hgo.2_Missense_Mutation_p.G262E|ANKRD17_uc003hgq.2_Missense_Mutation_p.G375E|ANKRD17_uc003hgr.2_Missense_Mutation_p.G375E|ANKRD17_uc011cbd.1_Missense_Mutation_p.G4E	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	375	ANK 5.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCCAGCACTTCCAGCTTCCAT	0.443													T	74019707	C	T	74019707	3	4	136	1	0	0	0	0	1	0	0	0	646	855	30	4	6803	4	ANKRD17	4	74019707	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	4045881	74019707	117134569	178	79000											
NAAA	27163	broad.mit.edu	37	chr4	76846936	76846936	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtctccgaaacagggcagcGatagcattctcccaccacca	8	15	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr4:76846936G>A	uc003hjb.2	-	5	682	c.618C>T	c.(616-618)ATC>ATT	p.I206I	NAAA_uc003hja.2_Silent_p.I206I|NAAA_uc003hjc.3_Silent_p.I206I|NAAA_uc003hjd.3_Intron|NAAA_uc011cbq.1_Silent_p.I105I	NM_014435	NP_055250	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase isoform 1	206					lipid metabolic process	lysosome	hydrolase activity			skin(1)	1						ACAGGGCAGCGATAGCATTCT	0.433													A	76846936	G	A	76846936	2	1	136	1	0	0	0	0	0	0	0	1	10127	1048	37	1		1	NAAA	4	76846936	Silent	SNP	G	TCGA-CD-5801-01A-11D-1600-08	2827229	76846936	114307340	179	79001											
NUP54	53371	broad.mit.edu	37	chr4	77053844	77053844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagtaccatttggcgaacGctcaacaacataaataacaa	6	9	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr4:77053844G>A	uc003hjs.2	-	6	867	c.739C>T	c.(739-741)CGT>TGT	p.R247C	NUP54_uc010ije.2_5'UTR|NUP54_uc011cbs.1_Missense_Mutation_p.R67C|NUP54_uc011cbt.1_Missense_Mutation_p.R199C|NUP54_uc003hjt.2_Missense_Mutation_p.R67C	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	247	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				ovary(1)|lung(1)	2						TTTGGCGAACGCTCAACAACA	0.373													A	77053844	G	A	77053844	3	1	136	1	0	0	0	0	1	0	0	0	10767	1087	38	1	812	1	NUP54	4	77053844	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	206908	77053844	114100432	180	79002											
PRKG2	5593	broad.mit.edu	37	chr4	82064024	82064024	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaatggggatgatgaggaaAatctggccaccttctccttc	12	9	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr4:82064024A>C	uc003hmh.2	-	10	1345	c.1331T>G	c.(1330-1332)TTT>TGT	p.F444C	PRKG2_uc011ccf.1_Missense_Mutation_p.F24C|PRKG2_uc011ccg.1_Missense_Mutation_p.F24C|PRKG2_uc011cch.1_Intron	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	444					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						TGATGAGGAAAATCTGGCCAC	0.468													C	82064024	A	C	82064024	3	2	136	1	0	0	0	0	1	0	0	0	12523	14	1	5	993	5	PRKG2	4	82064024	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	5010180	82064024	109090252	181	79003											
SEC31A	22872	broad.mit.edu	37	chr4	83774845	83774845	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caggaggctatctccttcatTttcaagcctggttcccaaaa	7	12	3	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr4:83774845T>A	uc003hnf.2	-	18	2196	c.2032A>T	c.(2032-2034)AAT>TAT	p.N678Y	SEC31A_uc003hne.2_Missense_Mutation_p.N411Y|SEC31A_uc011ccl.1_Missense_Mutation_p.N639Y|SEC31A_uc003hnl.2_Missense_Mutation_p.N639Y|SEC31A_uc003hng.2_Missense_Mutation_p.N678Y|SEC31A_uc003hnh.2_Missense_Mutation_p.N678Y|SEC31A_uc003hni.2_Missense_Mutation_p.N678Y|SEC31A_uc003hnj.2_Missense_Mutation_p.N639Y|SEC31A_uc011ccm.1_Missense_Mutation_p.N673Y|SEC31A_uc011ccn.1_Missense_Mutation_p.N678Y|SEC31A_uc003hnk.2_Missense_Mutation_p.N639Y|SEC31A_uc003hnm.2_Missense_Mutation_p.N678Y|SEC31A_uc003hnn.1_Missense_Mutation_p.N678Y	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	678	WD 7.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				TCTCCTTCATTTTCAAGCCTG	0.388													A	83774845	T	A	83774845	3	1	136	1	0	0	0	0	1	0	0	0	13998	1841	64	5	1670	5	SEC31A	4	83774845	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1710821	83774845	107379431	182	79004											
PTPN13	5783	broad.mit.edu	37	chr4	87684297	87684297	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggagattcagacatggAtgaagccacttactccagca	10	11	1	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr4:87684297A>T	uc003hpz.2	+	24	4451	c.3971A>T	c.(3970-3972)GAT>GTT	p.D1324V	PTPN13_uc003hpy.2_Missense_Mutation_p.D1324V|PTPN13_uc003hqa.2_Missense_Mutation_p.D1305V|PTPN13_uc003hqb.2_Missense_Mutation_p.D1133V	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1324						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAGACATGGATGAAGCCACT	0.373													T	87684297	A	T	87684297	3	4	136	1	0	0	0	0	1	0	0	0	12782	333	12	5	4061	5	PTPN13	4	87684297	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	3909452	87684297	103469979	183	79005											
TACR3	6870	broad.mit.edu	37	chr4	104511116	104511116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaactttgatgaaaggaCaccagcgaaatgctctcttg	10	8	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr4:104511116C>T	uc003hxe.1	-	5	1264	c.1121G>A	c.(1120-1122)TGT>TAT	p.C374Y		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	374	Cytoplasmic (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GATGAAAGGACACCAGCGAAA	0.453													T	104511116	C	T	104511116	3	4	136	1	0	0	0	0	1	0	0	0	15504	478	17	4	280	4	TACR3	4	104511116	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	16826819	104511116	86643160	184	79006											
PPA2	27068	broad.mit.edu	37	chr4	106320269	106320269	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accttatataatctaaaccaAttaagagtagcttccaggta	5	8	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr4:106320269A>C	uc003hxl.2	-	8	728	c.708T>G	c.(706-708)AAT>AAG	p.N236K	PPA2_uc003hxm.2_Missense_Mutation_p.N218K|PPA2_uc003hxn.2_Missense_Mutation_p.N207K|PPA2_uc003hxo.2_Missense_Mutation_p.N134K|PPA2_uc003hxp.2_Missense_Mutation_p.N70K|PPA2_uc003hxq.2_Missense_Mutation_p.N143K|PPA2_uc003hxr.2_Missense_Mutation_p.N143K	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN	inorganic pyrophosphatase 2 isoform 1 precursor	236					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			pancreas(1)	1		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		ATCTAAACCAATTAAGAGTAG	0.294													C	106320269	A	C	106320269	3	2	136	1	0	0	0	0	1	0	0	0	12287	98	4	5	316	5	PPA2	4	106320269	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	1809153	106320269	84834007	185	79007											
TBCK	93627	broad.mit.edu	37	chr4	107016730	107016730	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagggccctgggtaagcTccccttctgcagtgaaggca	13	11	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr4:107016730T>A	uc010ilv.2	-	25	2845	c.2480A>T	c.(2479-2481)GAG>GTG	p.E827V	TBCK_uc003hyb.2_Missense_Mutation_p.E570V|TBCK_uc003hye.2_Missense_Mutation_p.E788V|TBCK_uc003hyc.2_Missense_Mutation_p.E764V|TBCK_uc003hyd.2_Missense_Mutation_p.E655V|TBCK_uc003hyf.2_Missense_Mutation_p.E827V	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	827	Rhodanese.					intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						CTGGGTAAGCTCCCCTTCTGC	0.453													A	107016730	T	A	107016730	3	1	136	1	0	0	0	0	1	0	0	0	15633	1551	54	5	209	5	TBCK	4	107016730	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	696461	107016730	84137546	186	79008											
ANK2	287	broad.mit.edu	37	chr4	114279513	114279513	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagatatcctgccccgacTcttctgaaccagctgtacaa	7	14	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr4:114279513T>C	uc003ibe.3	+	38	9839	c.9739T>C	c.(9739-9741)TCT>CCT	p.S3247P	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.S549P|ANK2_uc011cgb.1_Missense_Mutation_p.S3262P	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3214					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)		CTGCCCCGACTCTTCTGAACC	0.483													C	114279513	T	C	114279513	3	2	136	1	0	0	0	0	1	0	0	0	621	1551	54	3	9954	3	ANK2	4	114279513	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	7262783	114279513	76874763	187	79009											
ANK2	287	broad.mit.edu	37	chr4	114302620	114302620	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttctccaggacaacaAtgagtaaagccatcacacag	7	11	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr4:114302620A>T	uc003ibe.3	+	46	11967	c.11867A>T	c.(11866-11868)AAT>ATT	p.N3956I	ANK2_uc003ibd.3_Missense_Mutation_p.N1862I|ANK2_uc003ibf.3_Missense_Mutation_p.N1871I|ANK2_uc011cgc.1_Missense_Mutation_p.N1047I|ANK2_uc003ibg.3_Missense_Mutation_p.N947I|ANK2_uc003ibh.3_Missense_Mutation_p.N576I|ANK2_uc011cgd.1_Missense_Mutation_p.N1258I|ANK2_uc010imr.2_Missense_Mutation_p.M130L|ANK2_uc010ims.2_Missense_Mutation_p.M69L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3923				NN -> SM (in Ref. 5; AC093879).	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)		CAGGACAACAATGAGTAAAGC	0.478													T	114302620	A	T	114302620	3	4	136	1	0	0	0	0	1	0	0	0	621	101	4	5	12114	5	ANK2	4	114302620	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	23107	114302620	76851656	188	79010											
MYOZ2	51778	broad.mit.edu	37	chr4	120107204	120107204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgagctactattgctaaCagatcccaggtttatgtcct	7	9	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr4:120107204C>T	uc003icp.3	+	6	857	c.644C>T	c.(643-645)ACA>ATA	p.T215I		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	myozenin 2	215							protein phosphatase 2B binding				0						CTATTGCTAACAGATCCCAGG	0.383													T	120107204	C	T	120107204	3	4	136	1	0	0	0	0	1	0	0	0	10096	478	17	4	662	4	MYOZ2	4	120107204	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	5804584	120107204	71047072	189	79011											
PDE5A	8654	broad.mit.edu	37	chr4	120423782	120423782	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctctgtctccttgatcaAaaaattcagttgctacaagt	5	10	5	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr4:120423782A>C	uc003idh.2	-	19	2515	c.2360T>G	c.(2359-2361)TTT>TGT	p.F787C	uc003ide.3_Intron|PDE5A_uc003idf.2_Missense_Mutation_p.F745C|PDE5A_uc003idg.2_Missense_Mutation_p.F735C	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	787	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	TCCTTGATCAAAAAATTCAGT	0.313													C	120423782	A	C	120423782	3	2	136	1	0	0	0	0	1	0	0	0	11644	14	1	5	279	5	PDE5A	4	120423782	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	316578	120423782	70730494	190	79012											
PDE5A	8654	broad.mit.edu	37	chr4	120488237	120488237	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agttttggtaccttttcatcTttttcagtaaatgtcccacc	5	10	3	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr4:120488237T>G	uc003idh.2	-	4	1049	c.894A>C	c.(892-894)AAA>AAC	p.K298N	PDE5A_uc003idf.2_Missense_Mutation_p.K256N|PDE5A_uc003idg.2_Missense_Mutation_p.K246N	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	298	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	CCTTTTCATCTTTTTCAGTAA	0.378													G	120488237	T	G	120488237	3	3	136	1	0	0	0	0	1	0	0	0	11644	1606	56	5	1805	5	PDE5A	4	120488237	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	64455	120488237	70666039	191	79013											
DCLK2	166614	broad.mit.edu	37	chr4	151168778	151168778	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacaatctccaggaagatcTcttcgaccagatcttggctg	9	11	3	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr4:151168778T>C	uc003ilm.3	+	13	1902	c.1802T>C	c.(1801-1803)CTC>CCC	p.L601P	DCLK2_uc003iln.3_Missense_Mutation_p.L600P|DCLK2_uc003ilo.3_Missense_Mutation_p.L618P|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	601	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					CAGGAAGATCTCTTCGACCAG	0.488													C	151168778	T	C	151168778	3	2	136	1	0	0	0	0	1	0	0	0	4292	1551	54	3	1852	3	DCLK2	4	151168778	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	30680541	151168778	39985498	192	79014											
PET112L	5188	broad.mit.edu	37	chr4	152638205	152638205	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagcaattgggagcctctGctgggtaatttggtagcctg	13	9	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr4:152638205G>A	uc003iml.2	-	4	475	c.463C>T	c.(463-465)CAG>TAG	p.Q155*	PET112L_uc003imm.3_Nonsense_Mutation_p.Q155*	NM_004564	NP_004555	O75879	GATB_HUMAN	PET112-like precursor	155						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding				0	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)			L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGGAGCCTCTGCTGGGTAATT	0.478													A	152638205	G	A	152638205	4	1	136	1	0	0	0	0	0	1	0	0	11734	1328	46	2	1250	2	PET112L	4	152638205	Nonsense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	1469427	152638205	38516071	193	79015											
TDO2	6999	broad.mit.edu	37	chr4	156841122	156841122	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtgatagctcctacttcAgcagtgatgaatcagattaa	8	8	2	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr4:156841122A>G	uc003ipf.1	+	12	1265	c.1201A>G	c.(1201-1203)AGC>GGC	p.S401G		NM_005651	NP_005642	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	401					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	CTCCTACTTCAGCAGTGATGA	0.353													G	156841122	A	G	156841122	3	3	136	1	0	0	0	0	1	0	0	0	15724	188	7	3	1247	3	TDO2	4	156841122	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	4202917	156841122	34313154	194	79016											
CCDC111	201973	broad.mit.edu	37	chr4	185593465	185593465	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaggattttctttcaataAaatgttcacagaaaaggcta	6	6	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr4:185593465A>C	uc003iwk.2	+	7	1128	c.695A>C	c.(694-696)AAA>ACA	p.K232T	CCDC111_uc010isd.1_RNA|CCDC111_uc003iwj.2_Missense_Mutation_p.K232T|CCDC111_uc003iwl.2_Missense_Mutation_p.K232T|CCDC111_uc003iwm.2_Missense_Mutation_p.K103T|CCDC111_uc003iwn.2_Missense_Mutation_p.K57T	NM_152683	NP_689896	Q96LW4	CC111_HUMAN	coiled-coil domain containing 111	232					DNA replication, synthesis of RNA primer		DNA primase activity			central_nervous_system(1)	1		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		TCTTTCAATAAAATGTTCACA	0.448													C	185593465	A	C	185593465	3	2	136	1	0	0	0	0	1	0	0	0	2748	14	1	5	713	5	CCDC111	4	185593465	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	28752343	185593465	5560811	195	79017											
IRX1	79192	broad.mit.edu	37	chr5	3599747	3599747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatcgacctggaaagcatcGacattgacaagatcgacgag	11	9	0	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr5:3599747G>A	uc003jde.2	+	2	737	c.685G>A	c.(685-687)GAC>AAC	p.D229N		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	229						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						GGAAAGCATCGACATTGACAA	0.642													A	3599747	G	A	3599747	3	1	136	1	0	0	0	0	1	0	0	0	7843	1058	37	1	691	1	IRX1	5	3599747	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08		3599747	177315513	196	79018											
FASTKD3	79072	broad.mit.edu	37	chr5	7868084	7868084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaagggcacagacgctccTtgactaccttgtgaacatga	9	12	0	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr5:7868084T>C	uc003jeb.2	-	2	250	c.113A>G	c.(112-114)AAG>AGG	p.K38R	FASTKD3_uc011cmp.1_5'UTR|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	38					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4						CAGACGCTCCTTGACTACCTT	0.403													C	7868084	T	C	7868084	3	2	136	1	0	0	0	0	1	0	0	0	5687	1609	56	3	1899	3	FASTKD3	5	7868084	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	4268337	7868084	173047176	197	79019											
DNAH5	1767	broad.mit.edu	37	chr5	13769199	13769199	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttctgtacctcagccTtgaccttttcagcagcctgt	6	15	4	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr5:13769199T>G	uc003jfd.2	-	58	9809	c.9767A>C	c.(9766-9768)AAG>ACG	p.K3256T	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3256	Stalk (By similarity).|Potential.				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)					TACCTCAGCCTTGACCTTTTC	0.428									Kartagener_syndrome				G	13769199	T	G	13769199	3	3	136	1	0	0	0	0	1	0	0	0	4604	1609	56	5	4195	5	DNAH5	5	13769199	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	5901115	13769199	167146061	198	79020											
ANKH	56172	broad.mit.edu	37	chr5	14758683	14758683	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catggtgcagtttattgataAtgtagtatcctaaatcacta	7	6	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr5:14758683A>C	uc003jfm.3	-	3	669	c.338T>G	c.(337-339)ATT>AGT	p.I113S		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	progressive ankylosis protein	113	Extracellular (Potential).				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			upper_aerodigestive_tract(1)	1						TTTATTGATAATGTAGTATCC	0.413													C	14758683	A	C	14758683	3	2	136	1	0	0	0	0	1	0	0	0	627	101	4	5	1180	5	ANKH	5	14758683	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	989484	14758683	166156577	199	79021											
PRDM9	56979	broad.mit.edu	37	chr5	23526783	23526783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagtcaagtatggagagtGtggacaaggtttcagtgtta	13	3	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr5:23526783G>A	uc003jgo.2	+	11	1768	c.1586G>A	c.(1585-1587)TGT>TAT	p.C529Y		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	529	C2H2-type 2; degenerate.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						TATGGAGAGTGTGGACAAGGT	0.468										HNSCC(3;0.000094)			A	23526783	G	A	23526783	3	1	136	1	0	0	0	0	1	0	0	0	12463	1377	48	4	1624	4	PRDM9	5	23526783	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	8768100	23526783	157388477	200	79022											
PDZD2	23037	broad.mit.edu	37	chr5	32077580	32077580	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccaggaatctctgggaAagctgaccactggagatgct	13	9	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr5:32077580A>C	uc003jhl.2	+	19	3938	c.3550A>C	c.(3550-3552)AAG>CAG	p.K1184Q	PDZD2_uc003jhm.2_Missense_Mutation_p.K1184Q|PDZD2_uc011cnx.1_Missense_Mutation_p.K1010Q	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1184					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						ATCTCTGGGAAAGCTGACCAC	0.498													C	32077580	A	C	32077580	3	2	136	1	0	0	0	0	1	0	0	0	11701	15	1	5	3620	5	PDZD2	5	32077580	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	8550797	32077580	148837680	201	79023											
ADAMTS12	81792	broad.mit.edu	37	chr5	33616123	33616123	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttccagctccctcaattTccatcactcttatgtccctt	3	15	3	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr5:33616123T>C	uc003jia.1	-	15	2361	c.2198A>G	c.(2197-2199)GAA>GGA	p.E733G	ADAMTS12_uc010iuq.1_Missense_Mutation_p.E648G	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	733	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TCCCTCAATTTCCATCACTCT	0.438										HNSCC(64;0.19)			C	33616123	T	C	33616123	3	2	136	1	0	0	0	0	1	0	0	0	257	1783	62	3	2626	3	ADAMTS12	5	33616123	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1538543	33616123	147299137	202	79024											
ADAMTS12	81792	broad.mit.edu	37	chr5	33891900	33891900	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccatagcaaagcgccccaAagttaaggagctgagccacc	9	14	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr5:33891900A>C	uc003jia.1	-	1	225	c.62T>G	c.(61-63)TTT>TGT	p.F21C	ADAMTS12_uc010iuq.1_Missense_Mutation_p.F21C|ADAMTS12_uc003jib.1_Missense_Mutation_p.F21C	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	21					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						AAGCGCCCCAAAGTTAAGGAG	0.488										HNSCC(64;0.19)			C	33891900	A	C	33891900	3	2	136	1	0	0	0	0	1	0	0	0	257	14	1	5	4818	5	ADAMTS12	5	33891900	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	275777	33891900	147023360	203	79025											
SPEF2	79925	broad.mit.edu	37	chr5	35654723	35654723	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagatgacgagtacattaaAaaaatccagaagcgccttga	8	8	1	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr5:35654723A>G	uc003jjo.2	+	7	984	c.873A>G	c.(871-873)AAA>AAG	p.K291K	SPEF2_uc003jjn.1_Silent_p.K291K|SPEF2_uc003jjq.3_Silent_p.K291K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	291					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTACATTAAAAAAATCCAGA	0.398													G	35654723	A	G	35654723	2	3	136	1	0	0	0	0	0	0	0	1	15034	11	1	3		3	SPEF2	5	35654723	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	1762823	35654723	145260537	204	79026											
UGT3A1	133688	broad.mit.edu	37	chr5	35965721	35965721	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaactaaagaacatcagaaAattcttcactcggccccaga	6	11	3	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr5:35965721A>T	uc003jjv.1	-	4	767	c.610T>A	c.(610-612)TTT>ATT	p.F204I	UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.F204I|UGT3A1_uc011cor.1_Missense_Mutation_p.F170I|UGT3A1_uc003jjy.1_Missense_Mutation_p.F150I	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	204	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACATCAGAAAATTCTTCACT	0.473													T	35965721	A	T	35965721	3	4	136	1	0	0	0	0	1	0	0	0	16960	14	1	5	1059	5	UGT3A1	5	35965721	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	310998	35965721	144949539	205	79027											
UGT3A2	167127	broad.mit.edu	37	chr5	36066860	36066860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccccagggagaaggaagCccactagaagaagcactcgc	13	12	0	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr5:36066860C>T	uc003jjz.1	-	1	125	c.32G>A	c.(31-33)GGC>GAC	p.G11D	UGT3A2_uc011cos.1_Missense_Mutation_p.G11D|UGT3A2_uc011cot.1_5'UTR	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	11						integral to membrane	glucuronosyltransferase activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGAAGGAAGCCCACTAGAAG	0.612													T	36066860	C	T	36066860	3	4	136	1	0	0	0	0	1	0	0	0	16961	739	26	2	1567	2	UGT3A2	5	36066860	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	101139	36066860	144848400	206	79028											
C5orf42	65250	broad.mit.edu	37	chr5	37108536	37108536	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccagcacttccatgtttTtttgtatgctgcagactatg	8	10	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr5:37108536T>C	uc011cpa.1	-	51	9507	c.9276A>G	c.(9274-9276)AAA>AAG	p.K3092K	C5orf42_uc003jko.1_Silent_p.K123K|C5orf42_uc003jkp.1_RNA|C5orf42_uc011coy.1_Silent_p.K1610K|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Silent_p.K2185K	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	3092										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)			TTCCATGTTTTTTTGTATGCT	0.398													C	37108536	T	C	37108536	2	2	136	1	0	0	0	0	0	0	0	1	2301	1838	64	3		3	C5orf42	5	37108536	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1041676	37108536	143806724	207	79029											
C5orf34	375444	broad.mit.edu	37	chr5	43503793	43503793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaacacctttgtaccaaacCattttcactagttcaggata	5	10	2	0	rs145557336	byFrequency	TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr5:43503793C>T	uc003jnz.1	-	6	1319	c.1002G>A	c.(1000-1002)ATG>ATA	p.M334I		NM_198566	NP_940968	Q96MH7	CE034_HUMAN	hypothetical protein LOC375444	334										breast(1)	1	Lung NSC(6;2.07e-05)					TGTACCAAACCATTTTCACTA	0.378													T	43503793	C	T	43503793	3	4	136	1	0	0	0	0	1	0	0	0	2293	594	21	4	950	4	C5orf34	5	43503793	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	6395257	43503793	137411467	208	79030											
SFRS12	140890	broad.mit.edu	37	chr5	65458386	65458386	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaccaagggcccttgctTttaatggagttatgtttgga	11	7	0	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr5:65458386T>G	uc003juo.2	+	6	1033	c.373T>G	c.(373-375)TTT>GTT	p.F125V	SFRS12_uc003jun.2_Missense_Mutation_p.F241V|SFRS12_uc010iwy.2_Missense_Mutation_p.F125V	NM_139168	NP_631907	Q8WXA9	SREK1_HUMAN	splicing factor, arginine/serine-rich 12 isoform	125	RRM.				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding				0		Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234)		Lung(70;0.00449)		GGCCCTTGCTTTTAATGGAGT	0.373													G	65458386	T	G	65458386	3	3	136	1	0	0	0	0	1	0	0	0	14167	1841	64	5	739	5	SFRS12	5	65458386	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	21954593	65458386	115456874	209	79031											
ANKRA2	57763	broad.mit.edu	37	chr5	72858699	72858699	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatatccagatttgttgatGtatccatgatttcaactgta	6	7	1	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr5:72858699G>T	uc003kcu.1	-	2	654	c.8C>A	c.(7-9)ACA>AAA	p.T3K	UTP15_uc003kcw.1_5'Flank|UTP15_uc011cso.1_5'Flank|UTP15_uc011csp.1_5'Flank|ANKRA2_uc003kcv.2_Missense_Mutation_p.T3K	NM_023039	NP_075526	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	3						cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding				0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		ATTTGTTGATGTATCCATGAT	0.393													T	72858699	G	T	72858699	3	4	136	1	0	0	0	0	1	0	0	0	636	1377	48	5	965	5	ANKRA2	5	72858699	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	7400313	72858699	108056561	210	79032											
ENC1	8507	broad.mit.edu	37	chr5	73931059	73931059	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccatttgttgattgtggggtCataatgttctacctgcttta	9	7	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr5:73931059C>T	uc003kdc.3	-	2	2383	c.1252G>A	c.(1252-1254)GAC>AAC	p.D418N	ENC1_uc011css.1_Missense_Mutation_p.D345N	NM_003633	NP_003624	O14682	ENC1_HUMAN	ectodermal-neural cortex (with BTB-like domain)	418	Kelch 3.				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			ovary(1)|pancreas(1)|skin(1)	3		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		ATTGTGGGGTCATAATGTTCT	0.552													T	73931059	C	T	73931059	3	4	136	1	0	0	0	0	1	0	0	0	5113	826	29	4	521	4	ENC1	5	73931059	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	1072360	73931059	106984201	211	79033											
ARSK	153642	broad.mit.edu	37	chr5	94927138	94927138	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcccttcatcaattagatcTtcttcagaaaactattgtca	5	10	6	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr5:94927138T>G	uc003kld.2	+	6	1063	c.905T>G	c.(904-906)CTT>CGT	p.L302R	ARSK_uc010jbg.2_Missense_Mutation_p.L143R|ARSK_uc011cum.1_RNA	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	arylsulfatase K precursor	302						extracellular region	arylsulfatase activity|metal ion binding			pancreas(1)	1		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CAATTAGATCTTCTTCAGAAA	0.348													G	94927138	T	G	94927138	3	3	136	1	0	0	0	0	1	0	0	0	996	1609	56	5	927	5	ARSK	5	94927138	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	20996079	94927138	85988122	212	79034											
PPIP5K2	23262	broad.mit.edu	37	chr5	102494226	102494226	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacagacatgacctcaaaatAtatgcctctgatgaaggacg	8	9	2	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr5:102494226A>G	uc003kod.3	+	16	2205	c.1686A>G	c.(1684-1686)ATA>ATG	p.I562M	PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.I562M	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	562					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)|skin(1)	2						ACCTCAAAATATATGCCTCTG	0.333													G	102494226	A	G	102494226	3	3	136	1	0	0	0	0	1	0	0	0	12333	439	16	3	1744	3	PPIP5K2	5	102494226	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	7567088	102494226	78421034	213	79035											
PCDHGC4	56098	broad.mit.edu	37	chr5	140865158	140865158	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccgcggcagcagctggacTtggaaattggggaggcagct	16	9	0	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr5:140865158T>G	uc003lky.1	+	1	418	c.418T>G	c.(418-420)TTG>GTG	p.L140V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.L140V	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	140	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTGGACTTGGAAATTGG	0.542													G	140865158	T	G	140865158	3	3	136	1	0	0	0	0	1	0	0	0	11570	1606	56	5	420	5	PCDHGC4	5	140865158	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	38370932	140865158	40050102	214	79036											
NR3C1	2908	broad.mit.edu	37	chr5	142661596	142661596	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcaatagttaaggagaTtttcaaccacctgcaagaga	10	7	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr5:142661596T>G	uc003lmz.2	-	9	2684	c.2192A>C	c.(2191-2193)AAT>ACT	p.N731T	NR3C1_uc003lmy.2_Missense_Mutation_p.N732T|NR3C1_uc003lna.2_Intron|NR3C1_uc003lnb.2_Missense_Mutation_p.N731T|NR3C1_uc011dbk.1_Missense_Mutation_p.N334T|NR3C1_uc003lnc.2_Missense_Mutation_p.N731T|NR3C1_uc003lnd.2_Missense_Mutation_p.N731T|NR3C1_uc003lne.2_Missense_Mutation_p.N731T|NR3C1_uc003lnf.2_Missense_Mutation_p.N732T	NM_000176	NP_000167	P04150	GCR_HUMAN	glucocorticoid receptor isoform alpha	731	Steroid-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	GTTAAGGAGATTTTCAACCAC	0.358													G	142661596	T	G	142661596	3	3	136	1	0	0	0	0	1	0	0	0	10630	1493	52	5	197	5	NR3C1	5	142661596	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1796438	142661596	38253664	215	79037											
WWC1	23286	broad.mit.edu	37	chr5	167841353	167841353	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgctttcttggcccccagGatcgccaacctgaagatcca	8	15	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr5:167841353G>A	uc003lzu.2	+	9	1035	c.942G>A	c.(940-942)AGG>AGA	p.R314R	WWC1_uc003lzv.2_Silent_p.R314R|WWC1_uc011den.1_Silent_p.R314R|WWC1_uc003lzw.2_Silent_p.R113R	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	314	Potential.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TGGCCCCCAGGATCGCCAACC	0.547													A	167841353	G	A	167841353	2	1	136	1	0	0	0	0	0	0	0	1	17408	1188	41	4		4	WWC1	5	167841353	Silent	SNP	G	TCGA-CD-5801-01A-11D-1600-08	25179757	167841353	13073907	216	79038											
MAK	4117	broad.mit.edu	37	chr6	10804105	10804105	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaactgaagatctcagtaAaacttcaggggcacgatacc	8	9	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:10804105A>G	uc003mzl.2	-	6	740	c.511T>C	c.(511-513)TTA>CTA	p.L171L	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Silent_p.L171L|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	171	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				GATCTCAGTAAAACTTCAGGG	0.418													G	10804105	A	G	10804105	2	3	136	1	0	0	0	0	0	0	0	1	9197	11	1	3		3	MAK	6	10804105	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08		10804105	160310962	217	79039											
SLC17A1	6568	broad.mit.edu	37	chr6	25799054	25799054	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttagcccagtcctgaaTttctgctgtagcaactataa	6	10	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:25799054T>G	uc003nfh.3	-	12	1479	c.1363A>C	c.(1363-1365)ATT>CTT	p.I455L	SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Missense_Mutation_p.I453L|SLC17A1_uc010jqc.1_Missense_Mutation_p.I399L	NM_005074	NP_005065	Q14916	NPT1_HUMAN	solute carrier family 17 (sodium phosphate),	455					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(3)|pancreas(1)	4						CAGTCCTGAATTTCTGCTGTA	0.433													G	25799054	T	G	25799054	3	3	136	1	0	0	0	0	1	0	0	0	14416	1493	52	5	44	5	SLC17A1	6	25799054	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	14994949	25799054	145316013	218	79040											
HIST1H2AC	8334	broad.mit.edu	37	chr6	26124540	26124540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcgctggtctccagttccCggtgggccgagtgcaccgcc	14	16	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:26124540C>T	uc003ngm.2	+	1	168	c.80C>T	c.(79-81)CCG>CTG	p.P27L	HIST1H2BC_uc003ngk.3_5'Flank|HIST1H2BC_uc003ngl.2_5'Flank|HIST1H2AC_uc003ngn.2_RNA|HIST1H2AC_uc003ngo.2_RNA|HIST1H2AC_uc003ngp.2_Missense_Mutation_p.P27L	NM_003512	NP_003503	Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	27					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CTCCAGTTCCCGGTGGGCCGA	0.612													T	26124540	C	T	26124540	3	4	136	1	0	0	0	0	1	0	0	0	7130	652	23	1	82	1	HIST1H2AC	6	26124540	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	325486	26124540	144990527	219	79041											
BTN3A1	11119	broad.mit.edu	37	chr6	26410259	26410259	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagtatccagtatgcatcTcgtaagtgcctctgacattt	8	9	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:26410259T>C	uc003nhv.2	+	7	1331	c.963T>C	c.(961-963)TCT>TCC	p.S321S	BTN3A1_uc011dkj.1_Silent_p.S321S|BTN3A1_uc011dkk.1_Silent_p.S269S|BTN3A1_uc010jqj.2_Silent_p.S321S	NM_007048	NP_008979	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1 isoform a	321	Cytoplasmic (Potential).				lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						AGTATGCATCTCGTAAGTGCC	0.468													C	26410259	T	C	26410259	2	2	136	1	0	0	0	0	0	0	0	1	1562	1565	54	3		3	BTN3A1	6	26410259	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	285719	26410259	144704808	220	79042											
MAS1L	116511	broad.mit.edu	37	chr6	29455004	29455004	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atggaagagcccagaaagctTtagaaatatgacacatgcct	9	8	0	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:29455004T>G	uc011dlq.1	-	1	676	c.676A>C	c.(676-678)AAG>CAG	p.K226Q		NM_052967	NP_443199	P35410	MAS1L_HUMAN	MAS1 oncogene-like	226	Helical; Name=5; (Potential).					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			ovary(7)|lung(2)	9						CCAGAAAGCTTTAGAAATATG	0.443													G	29455004	T	G	29455004	3	3	136	1	0	0	0	0	1	0	0	0	9321	1850	64	5	462	5	MAS1L	6	29455004	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	3044745	29455004	141660063	221	79043											
DHX16	8449	broad.mit.edu	37	chr6	30630751	30630751	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccacactcatggcagccacTctccggggttgggtgcaggc	14	14	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:30630751T>C	uc003nqz.2	-	8	1577	c.1365A>G	c.(1363-1365)AGA>AGG	p.R455R	DHX16_uc003nqy.2_5'Flank|DHX16_uc011dmo.1_Silent_p.R395R	NM_003587	NP_003578	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	455	Helicase ATP-binding.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(2)|kidney(2)	4						TGGCAGCCACTCTCCGGGGTT	0.527													C	30630751	T	C	30630751	2	2	136	1	0	0	0	0	0	0	0	1	4502	1548	54	3		3	DHX16	6	30630751	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1175747	30630751	140484316	222	79044											
ITPR3	3710	broad.mit.edu	37	chr6	33632880	33632880	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggcctttgccatcgtgtcAgtgcccgtgtctgagatccg	13	12	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:33632880A>G	uc011drk.1	+	13	1518	c.1299A>G	c.(1297-1299)TCA>TCG	p.S433S		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	433	Cytoplasmic (Potential).|MIR 5.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CCATCGTGTCAGTGCCCGTGT	0.567													G	33632880	A	G	33632880	2	3	136	1	0	0	0	0	0	0	0	1	7922	175	7	3		3	ITPR3	6	33632880	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	3002129	33632880	137482187	223	79045											
FTSJD2	23070	broad.mit.edu	37	chr6	37430704	37430704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgcggaacacggattcCgacgtcaacttggtggtccc	12	13	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:37430704C>T	uc003ons.2	+	13	1678	c.1425C>T	c.(1423-1425)TCC>TCT	p.S475S		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	FtsJ methyltransferase domain containing 2	475					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						ACACGGATTCCGACGTCAACT	0.502													T	37430704	C	T	37430704	2	4	136	1	0	0	0	0	0	0	0	1	6091	639	23	1		1	FTSJD2	6	37430704	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	3797824	37430704	133684363	224	79046											
DNAH8	1769	broad.mit.edu	37	chr6	38690577	38690577	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtataaagcattccgcaCgacgggggatggagaaggat	15	6	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:38690577C>T	uc003ooe.1	+	1	26	c.-574C>T	c.(-576--572)CACGA>CATGA		DNAH8_uc003ood.1_Translation_Start_Site	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GCATTCCGCACGACGGGGGAT	0.483													T	38690577	C	T	38690577	1	4	136	1	0	0	0	0	0	0	0	0	4607	551	19	1		1	DNAH8	6	38690577	Translation_Start_Site	SNP	C	TCGA-CD-5801-01A-11D-1600-08	1259873	38690577	132424490	225	79047											
DNAH8	1769	broad.mit.edu	37	chr6	38950132	38950132	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttaaggagcgacgaaAatttggccccttaggatgga	12	6	0	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:38950132A>C	uc003ooe.1	+	84	12794	c.12194A>C	c.(12193-12195)AAA>ACA	p.K4065T	DNAH8_uc003oog.1_Missense_Mutation_p.K514T	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GAGCGACGAAAATTTGGCCCC	0.343													C	38950132	A	C	38950132	3	2	136	1	0	0	0	0	1	0	0	0	4607	14	1	5	12520	5	DNAH8	6	38950132	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	259555	38950132	132164935	226	79048											
HSP90AB1	3326	broad.mit.edu	37	chr6	44220806	44220806	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatctccaatagacttgtgTcttcaccttgctgcattgtg	7	11	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:44220806T>C	uc003oxa.1	+	11	1840	c.1756T>C	c.(1756-1758)TCT>CCT	p.S586P	HSP90AB1_uc011dvr.1_Missense_Mutation_p.S576P|HSP90AB1_uc003oxb.1_Missense_Mutation_p.S586P|HSP90AB1_uc011dvs.1_Missense_Mutation_p.S406P|HSP90AB1_uc003oxc.1_Missense_Mutation_p.S224P	NM_007355	NP_031381	P08238	HS90B_HUMAN	heat shock 90kDa protein 1, beta	586					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			lung(3)|breast(1)	4	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TAGACTTGTGTCTTCACCTTG	0.473													C	44220806	T	C	44220806	3	2	136	1	0	0	0	0	1	0	0	0	7402	1667	58	3	1794	3	HSP90AB1	6	44220806	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	5270674	44220806	126894261	227	79049											
TCTE1	202500	broad.mit.edu	37	chr6	44254189	44254189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctatcaggttggcggtcaCagccagtggtaggtcagggg	17	8	4	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:44254189C>T	uc003oxi.2	-	3	514	c.358G>A	c.(358-360)GTG>ATG	p.V120M	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	t-complex-associated testis expressed 1	120										ovary(2)|skin(2)	4	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTGGCGGTCACAGCCAGTGGT	0.592													T	44254189	C	T	44254189	3	4	136	1	0	0	0	0	1	0	0	0	15714	478	17	4	1159	4	TCTE1	6	44254189	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	33383	44254189	126860878	228	79050											
TDRD6	221400	broad.mit.edu	37	chr6	46661814	46661814	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagaatttgtagagtataaAaacagggatgccatttcggc	11	5	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:46661814A>T	uc003oyj.2	+	1	5949	c.5949A>T	c.(5947-5949)AAA>AAT	p.K1983N	TDRD6_uc010jze.2_Missense_Mutation_p.K1977N	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1983					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			TAGAGTATAAAAACAGGGATG	0.393													T	46661814	A	T	46661814	3	4	136	1	0	0	0	0	1	0	0	0	15731	11	1	5	5951	5	TDRD6	6	46661814	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	2407625	46661814	124453253	229	79051											
TDRD6	221400	broad.mit.edu	37	chr6	46663629	46663629	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgtgtggtcaagtctaAgaaacacatggtctaaatgt	11	5	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:46663629A>C	uc003oyj.2	+	2	6118	c.6118A>C	c.(6118-6120)AGA>CGA	p.R2040R	TDRD6_uc010jze.2_Silent_p.R2034R	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	2040	Tudor 8.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			GTCAAGTCTAAGAAACACATG	0.363													C	46663629	A	C	46663629	2	2	136	1	0	0	0	0	0	0	0	1	15731	64	3	5		5	TDRD6	6	46663629	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	1815	46663629	124451438	230	79052											
EFHC1	114327	broad.mit.edu	37	chr6	52288746	52288746	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattcttttcttcttcagaaAacagccttccacagaagtca	4	12	5	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:52288746A>G	uc003pap.3	+	2	281	c.66A>G	c.(64-66)AAA>AAG	p.K22K	EFHC1_uc011dwv.1_5'UTR|EFHC1_uc011dww.1_Silent_p.K3K	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	22						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)					TTCTTCAGAAAACAGCCTTCC	0.378													G	52288746	A	G	52288746	2	3	136	1	0	0	0	0	0	0	0	1	4946	11	1	3		3	EFHC1	6	52288746	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	5625117	52288746	118826321	231	79053											
DST	667	broad.mit.edu	37	chr6	56434681	56434681	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttccaaagattttcctaaAtcctctgcaccaaaagaagg	5	11	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:56434681A>C	uc003pdf.2	-	48	7522	c.7494T>G	c.(7492-7494)GAT>GAG	p.D2498E	DST_uc003pcz.3_Missense_Mutation_p.D2320E|DST_uc011dxj.1_Missense_Mutation_p.D2349E|DST_uc011dxk.1_Missense_Mutation_p.D2360E|DST_uc003pcy.3_Missense_Mutation_p.D1994E	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	4406					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)			ATTTTCCTAAATCCTCTGCAC	0.313													C	56434681	A	C	56434681	3	2	136	1	0	0	0	0	1	0	0	0	4783	98	4	5	9733	5	DST	6	56434681	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	4145935	56434681	114680386	232	79054											
LCA5	167691	broad.mit.edu	37	chr6	80197201	80197201	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacttctaacatttcctgaAttctgaccttctccttttgg	6	11	3	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:80197201A>C	uc003pix.2	-	8	2049	c.1614T>G	c.(1612-1614)AAT>AAG	p.N538K	LCA5_uc003piy.2_Missense_Mutation_p.N538K	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	538					protein transport	cilium axoneme|microtubule basal body	protein binding				0		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		CATTTCCTGAATTCTGACCTT	0.423													C	80197201	A	C	80197201	3	2	136	1	0	0	0	0	1	0	0	0	8656	98	4	5	483	5	LCA5	6	80197201	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	23762520	80197201	90917866	233	79055											
GABRR1	2569	broad.mit.edu	37	chr6	89907959	89907959	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtagagggtcatcgtaaAgtcctgggagcagaagggca	16	7	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:89907959A>C	uc003pna.2	-	5	807	c.352T>G	c.(352-354)TTT>GTT	p.F118V	GABRR1_uc011dzv.1_Missense_Mutation_p.F95V	NM_002042	NP_002033	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 1	118	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GTCATCGTAAAGTCCTGGGAG	0.557													C	89907959	A	C	89907959	3	2	136	1	0	0	0	0	1	0	0	0	6176	72	3	5	1111	5	GABRR1	6	89907959	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	9710758	89907959	81207108	234	79056											
ASCC3	10973	broad.mit.edu	37	chr6	101214491	101214491	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgcatgtcaccagtcaattCtttcacaatgatgcctagtg	7	11	4	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:101214491C>T	uc003pqk.2	-	10	2016	c.1687G>A	c.(1687-1689)GAA>AAA	p.E563K	ASCC3_uc011eai.1_Missense_Mutation_p.E465K|ASCC3_uc003pql.2_Missense_Mutation_p.E563K	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	563	Helicase ATP-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CCAGTCAATTCTTTCACAATG	0.363													T	101214491	C	T	101214491	3	4	136	1	0	0	0	0	1	0	0	0	1033	922	32	4	5053	4	ASCC3	6	101214491	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	11306532	101214491	69900576	235	79057											
GRIK2	2898	broad.mit.edu	37	chr6	102124587	102124587	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacctgctgatacaaaggatGcaaaacccttactaaaagaa	6	9	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:102124587G>T	uc003pqp.3	+	4	880	c.631G>T	c.(631-633)GCA>TCA	p.A211S	GRIK2_uc003pqn.2_Missense_Mutation_p.A211S|GRIK2_uc003pqo.3_Missense_Mutation_p.A211S|GRIK2_uc010kcw.2_Missense_Mutation_p.A211S	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	211	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TACAAAGGATGCAAAACCCTT	0.368													T	102124587	G	T	102124587	3	4	136	1	0	0	0	0	1	0	0	0	6774	1319	46	5	645	5	GRIK2	6	102124587	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	910096	102124587	68990480	236	79058											
ZBTB24	9841	broad.mit.edu	37	chr6	109798005	109798005	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcagtgagtgcttggTggtcagagccttgctgcaca	13	11	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:109798005T>C	uc003ptl.1	-	3	1249	c.1081A>G	c.(1081-1083)ACC>GCC	p.T361A	ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Intron|ZBTB24_uc010kdt.1_RNA	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24 isoform	361	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		GAGTGCTTGGTGGTCAGAGCC	0.602													C	109798005	T	C	109798005	3	2	136	1	0	0	0	0	1	0	0	0	17528	1696	59	3	1032	3	ZBTB24	6	109798005	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	7673418	109798005	61317062	237	79059											
AKD1	221264	broad.mit.edu	37	chr6	109954220	109954220	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttacatggtggtcctggcAtaggtggaagcagataggga	15	6	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:109954220A>C	uc003ptn.2	-	12	1237	c.1160T>G	c.(1159-1161)ATG>AGG	p.M387R	AKD1_uc003ptr.3_Missense_Mutation_p.M387R	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	387					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						TGGTCCTGGCATAGGTGGAAG	0.368													C	109954220	A	C	109954220	3	2	136	1	0	0	0	0	1	0	0	0	460	217	8	5	4707	5	AKD1	6	109954220	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	156215	109954220	61160847	238	79060											
SLC16A10	117247	broad.mit.edu	37	chr6	111543321	111543321	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatccatagtaagaagcaAagagagatcagtaaaaccac	9	7	1	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:111543321A>C	uc003pus.2	+	6	1606	c.1431A>C	c.(1429-1431)CAA>CAC	p.Q477H	SLC16A10_uc003put.2_Missense_Mutation_p.Q163H	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	solute carrier family 16, member 10	477	Extracellular (Potential).				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity				0		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		GTAAGAAGCAAAGAGAGATCA	0.433													C	111543321	A	C	111543321	3	2	136	1	0	0	0	0	1	0	0	0	14403	11	1	5	1453	5	SLC16A10	6	111543321	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	1589101	111543321	59571746	239	79061											
RFX6	222546	broad.mit.edu	37	chr6	117245856	117245856	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcatttgattcgaatgcTtctcgatgaatacattctcc	5	9	3	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:117245856T>G	uc003pxm.2	+	15	1643	c.1580T>G	c.(1579-1581)CTT>CGT	p.L527R		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	527					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						ATTCGAATGCTTCTCGATGAA	0.388													G	117245856	T	G	117245856	3	3	136	1	0	0	0	0	1	0	0	0	13267	1609	56	5	1638	5	RFX6	6	117245856	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	5702535	117245856	53869211	240	79062											
ROS1	6098	broad.mit.edu	37	chr6	117715842	117715842	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatctactaaatgttttaAagatctctttcttagagaag	5	6	4	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:117715842A>C	uc003pxp.1	-	9	1115	c.916T>G	c.(916-918)TTA>GTA	p.L306V	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	306	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAATGTTTTAAAGATCTCTTT	0.348			T	GOPC|ROS1	glioblastoma|NSCLC								C	117715842	A	C	117715842	3	2	136	1	0	0	0	0	1	0	0	0	13531	11	1	5	6267	5	ROS1	6	117715842	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	469986	117715842	53399225	241	79063											
DCBLD1	285761	broad.mit.edu	37	chr6	117842710	117842710	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaataacatgtttggaacgAgctagccattatttgaagac	8	6	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:117842710A>C	uc003pxs.2	+	4	608	c.483A>C	c.(481-483)CGA>CGC	p.R161R	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Silent_p.R161R	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	161	LCCL.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(1)	1		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		GTTTGGAACGAGCTAGCCATT	0.318													C	117842710	A	C	117842710	2	2	136	1	0	0	0	0	0	0	0	1	4280	291	11	5		5	DCBLD1	6	117842710	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	126868	117842710	53272357	242	79064											
L3MBTL3	84456	broad.mit.edu	37	chr6	130407341	130407341	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggttgtagacaaaaggaaCcctatgtttattagagtagc	11	5	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:130407341C>T	uc003qbt.2	+	16	1634	c.1464C>T	c.(1462-1464)AAC>AAT	p.N488N	L3MBTL3_uc003qbu.2_Silent_p.N463N	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 isoform a	488	MBT 3.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		ACAAAAGGAACCCTATGTTTA	0.393													T	130407341	C	T	130407341	2	4	136	1	0	0	0	0	0	0	0	1	8593	506	18	4		4	L3MBTL3	6	130407341	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	12564631	130407341	40707726	243	79065											
EPB41L2	2037	broad.mit.edu	37	chr6	131191232	131191232	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcccaacctctgcccgcttcTtctcctccactatattcaga	3	18	4	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:131191232T>A	uc003qch.2	-	15	2260	c.2078A>T	c.(2077-2079)AAG>ATG	p.K693M	EPB41L2_uc003qce.1_Missense_Mutation_p.K71M|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_Missense_Mutation_p.K623M|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc010kfl.1_Missense_Mutation_p.K623M|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_Missense_Mutation_p.K90M	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	693					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGCCCGCTTCTTCTCCTCCAC	0.403													A	131191232	T	A	131191232	3	1	136	1	0	0	0	0	1	0	0	0	5153	1609	56	5	959	5	EPB41L2	6	131191232	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	783891	131191232	39923835	244	79066											
UTRN	7402	broad.mit.edu	37	chr6	145069618	145069618	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccgtgggagacttactcattGactcgctgcaggatcacatt	10	11	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:145069618G>A	uc003qkt.2	+	54	8268	c.8176G>A	c.(8176-8178)GAC>AAC	p.D2726N		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2726	Spectrin 20.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTTACTCATTGACTCGCTGCA	0.443													A	145069618	G	A	145069618	3	1	136	1	0	0	0	0	1	0	0	0	17100	1290	45	4	8390	4	UTRN	6	145069618	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	13878386	145069618	26045449	245	79067											
ARID1B	57492	broad.mit.edu	37	chr6	157256693	157256693	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaacttaatacagcaagaaAgaccatcaagtttaccagta	6	8	1	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr6:157256693A>G	uc003qqn.2	+	4	1959	c.1807A>G	c.(1807-1809)AGA>GGA	p.R603G	ARID1B_uc003qqo.2_Missense_Mutation_p.R616G|ARID1B_uc003qqp.2_Missense_Mutation_p.R603G|ARID1B_uc003qqq.1_Missense_Mutation_p.R31G	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	661					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ACAGCAAGAAAGACCATCAAG	0.373													G	157256693	A	G	157256693	3	3	136	1	0	0	0	0	1	0	0	0	914	64	3	3	2038	3	ARID1B	6	157256693	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	12187075	157256693	13858374	246	79068											
SUN1	23353	broad.mit.edu	37	chr7	892458	892458	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttttagcaggtctctccTtacggggccagggcaatttc	10	12	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:892458T>G	uc011jvp.1	+	10	1001	c.922T>G	c.(922-924)TTA>GTA	p.L308V	GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.L225V|SUN1_uc011jvq.1_Missense_Mutation_p.L205V|SUN1_uc003sjg.2_Missense_Mutation_p.L213V|SUN1_uc011jvr.1_Missense_Mutation_p.L117V|SUN1_uc003sji.2_Missense_Mutation_p.L146V|SUN1_uc003sjk.2_5'UTR	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	335	Helical.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						AGGTCTCTCCTTACGGGGCCA	0.493													G	892458	T	G	892458	3	3	136	1	0	0	0	0	1	0	0	0	15388	1606	56	5	1139	5	SUN1	7	892458	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08		892458	158246205	247	79069											
GLCCI1	113263	broad.mit.edu	37	chr7	8125957	8125957	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctgaccttatgctcaAgaactcccctaactctggcc	6	15	3	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:8125957A>G	uc003srk.2	+	8	1992	c.1433A>G	c.(1432-1434)AAG>AGG	p.K478R		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	478											0		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CTTATGCTCAAGAACTCCCCT	0.493													G	8125957	A	G	8125957	3	3	136	1	0	0	0	0	1	0	0	0	6431	72	3	3	1463	3	GLCCI1	7	8125957	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	7233499	8125957	151012706	248	79070											
DNAH11	8701	broad.mit.edu	37	chr7	21779255	21779255	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatgtcgcctgcatgaatccGatggtgggcagcttcaccat	11	11	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:21779255G>A	uc003svc.2	+	49	7930	c.7899G>A	c.(7897-7899)CCG>CCA	p.P2633P		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2633	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GCATGAATCCGATGGTGGGCA	0.423									Kartagener_syndrome				A	21779255	G	A	21779255	2	1	136	1	0	0	0	0	0	0	0	1	4599	1045	37	1		1	DNAH11	7	21779255	Silent	SNP	G	TCGA-CD-5801-01A-11D-1600-08	13653298	21779255	137359408	249	79071											
CRHR2	1395	broad.mit.edu	37	chr7	30693214	30693214	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcctcacggctgagcgCacctgtggggaaggcagagg	15	12	2	2	rs143275254		TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:30693214C>T	uc003tbn.2	-	12	1342	c.1098G>A	c.(1096-1098)GTG>GTA	p.V366V	CRHR2_uc010kvw.1_3'UTR|CRHR2_uc010kvx.1_Silent_p.V365V|CRHR2_uc010kvy.1_Silent_p.V202V|CRHR2_uc003tbo.2_Silent_p.V352V|CRHR2_uc003tbp.2_Silent_p.V393V	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	366	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(2)|ovary(1)|skin(1)	4						CGGCTGAGCGCACCTGTGGGG	0.647													T	30693214	C	T	30693214	2	4	136	1	0	0	0	0	0	0	0	1	3872	697	25	2		2	CRHR2	7	30693214	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	8913959	30693214	128445449	250	79072											
AMPH	273	broad.mit.edu	37	chr7	38530710	38530710	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaaggacccatccacgagTttttgatggaagtcttccca	9	11	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:38530710T>G	uc003tgu.2	-	5	405	c.336A>C	c.(334-336)AAA>AAC	p.K112N	AMPH_uc003tgv.2_Missense_Mutation_p.K112N	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	112	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						CATCCACGAGTTTTTGATGGA	0.393													G	38530710	T	G	38530710	3	3	136	1	0	0	0	0	1	0	0	0	588	1722	60	5	1819	5	AMPH	7	38530710	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	7837496	38530710	120607953	251	79073											
C7orf36	57002	broad.mit.edu	37	chr7	39612132	39612132	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataatgctgagtttaacaaaAactgtagcaagagccatagt	8	6	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:39612132A>C	uc003thc.3	+	3	517	c.508A>C	c.(508-510)AAC>CAC	p.N170H		NM_020192	NP_064577	Q9NRH1	CG036_HUMAN	hypothetical protein LOC57002	170											0						GTTTAACAAAAACTGTAGCAA	0.383													C	39612132	A	C	39612132	3	2	136	1	0	0	0	0	1	0	0	0	2390	14	1	5	518	5	C7orf36	7	39612132	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	1081422	39612132	119526531	252	79074											
INHBA	3624	broad.mit.edu	37	chr7	41739626	41739626	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccgaggtctgctccataAgttcattcatttctgccctc	6	14	5	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:41739626A>G	uc003thq.2	-	1	582	c.347T>C	c.(346-348)CTT>CCT	p.L116P	LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Missense_Mutation_p.L116P|LOC285954_uc003ths.2_Intron	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	116					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			lung(5)|ovary(1)	6						CTGCTCCATAAGTTCATTCAT	0.532										TSP Lung(11;0.080)			G	41739626	A	G	41739626	3	3	136	1	0	0	0	0	1	0	0	0	7741	72	3	3	941	3	INHBA	7	41739626	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	2127494	41739626	117399037	253	79075											
GLI3	2737	broad.mit.edu	37	chr7	42005486	42005486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctgggaggacagggggacGagtggaagtttcgggactgg	21	5	0	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:42005486G>A	uc011kbh.1	-	15	3276	c.3185C>T	c.(3184-3186)TCG>TTG	p.S1062L	GLI3_uc011kbg.1_Missense_Mutation_p.S1003L	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1062					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						ACAGGGGGACGAGTGGAAGTT	0.637									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42005486	G	A	42005486	3	1	136	1	0	0	0	0	1	0	0	0	6439	1059	37	1	1561	1	GLI3	7	42005486	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	265860	42005486	117133177	254	79076											
HECW1	23072	broad.mit.edu	37	chr7	43490478	43490478	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtaagccagcttccttcccTgaggcctgaacatcatcact	7	14	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:43490478T>G	uc003tid.1	+	12	3055	c.2450T>G	c.(2449-2451)CTG>CGG	p.L817R	HECW1_uc011kbi.1_Intron	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	817					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.R817Q(1)		ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						CTTCCTTCCCTGAGGCCTGAA	0.428													G	43490478	T	G	43490478	3	3	136	1	0	0	0	0	1	0	0	0	7042	1580	55	5	2488	5	HECW1	7	43490478	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1484992	43490478	115648185	255	79077											
HECW1	23072	broad.mit.edu	37	chr7	43581478	43581478	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attcacccaggccctgtgatTtgagtgacctggaatatttg	10	9	1	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:43581478T>G	uc003tid.1	+	26	4734	c.4129T>G	c.(4129-4131)TTG>GTG	p.L1377V	HECW1_uc011kbi.1_Missense_Mutation_p.L1343V	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1377	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GCCCTGTGATTTGAGTGACCT	0.423													G	43581478	T	G	43581478	3	3	136	1	0	0	0	0	1	0	0	0	7042	1838	64	5	4223	5	HECW1	7	43581478	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	91000	43581478	115557185	256	79078											
URGCP	55665	broad.mit.edu	37	chr7	43918314	43918314	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccacgctgtcttcccggaAgctccccatgccccttgggg	11	17	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:43918314A>G	uc003tiw.2	-	6	805	c.748T>C	c.(748-750)TTC>CTC	p.F250L	URGCP_uc003tiu.2_Missense_Mutation_p.F207L|URGCP_uc003tiv.2_Missense_Mutation_p.F175L|URGCP_uc003tix.2_Missense_Mutation_p.F241L|URGCP_uc003tiy.2_Missense_Mutation_p.F207L|URGCP_uc003tiz.2_Missense_Mutation_p.F207L|URGCP_uc011kbj.1_Missense_Mutation_p.F207L	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	250					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						TCTTCCCGGAAGCTCCCCATG	0.617													G	43918314	A	G	43918314	3	3	136	1	0	0	0	0	1	0	0	0	17023	72	3	3	2051	3	URGCP	7	43918314	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	336836	43918314	115220349	257	79079											
ADCY1	107	broad.mit.edu	37	chr7	45688316	45688316	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggggactgctactactgCgtgtcgggcctcacccagcc	12	16	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:45688316C>T	uc003tne.3	+	5	1086	c.1068C>T	c.(1066-1068)TGC>TGT	p.C356C	ADCY1_uc003tnd.2_Silent_p.C131C	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	356	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCTACTACTGCGTGTCGGGCC	0.577													T	45688316	C	T	45688316	2	4	136	1	0	0	0	0	0	0	0	1	292	776	27	1		1	ADCY1	7	45688316	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	1770002	45688316	113450347	258	79080											
ABCA13	154664	broad.mit.edu	37	chr7	48311482	48311482	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttatcatttgtggaattttTtgagaaattattgttgccta	7	3	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:48311482T>G	uc003toq.2	+	17	2244	c.2219T>G	c.(2218-2220)TTT>TGT	p.F740C	ABCA13_uc010kyr.2_Missense_Mutation_p.F243C	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	740					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GTGGAATTTTTTGAGAAATTA	0.368													G	48311482	T	G	48311482	3	3	136	1	0	0	0	0	1	0	0	0	31	1841	64	5	2114	5	ABCA13	7	48311482	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	2623166	48311482	110827181	259	79081											
ABCA13	154664	broad.mit.edu	37	chr7	48319313	48319313	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctgaatggataacttccaCaagaactttgtttcagccac	6	11	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:48319313C>A	uc003toq.2	+	18	8547	c.8522C>A	c.(8521-8523)ACA>AAA	p.T2841K	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2841					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						ATAACTTCCACAAGAACTTTG	0.353													A	48319313	C	A	48319313	3	1	136	1	0	0	0	0	1	0	0	0	31	478	17	5	8421	5	ABCA13	7	48319313	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	7831	48319313	110819350	260	79082											
POM121L12	285877	broad.mit.edu	37	chr7	53104142	53104142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccgtgctggtccagcccGccccatccgccatctgggac	10	19	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:53104142G>A	uc003tpz.2	+	1	794	c.778G>A	c.(778-780)GCC>ACC	p.A260T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	260											0						GGTCCAGCCCGCCCCATCCGC	0.657													A	53104142	G	A	53104142	3	1	136	1	0	0	0	0	1	0	0	0	12241	1087	38	1	780	1	POM121L12	7	53104142	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	4784829	53104142	106034521	261	79083											
CHCHD2	51142	broad.mit.edu	37	chr7	56170610	56170610	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgaaaccctcacagagcTtgatgtcaccctggttctgg	9	12	3	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:56170610T>G	uc003tsa.2	-	3	476	c.395A>C	c.(394-396)AAG>ACG	p.K132T	PSPH_uc003trj.2_Intron	NM_016139	NP_057223	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain	132	CHCH.					mitochondrion					0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTCACAGAGCTTGATGTCACC	0.498													G	56170610	T	G	56170610	3	3	136	1	0	0	0	0	1	0	0	0	3316	1609	56	5	68	5	CHCHD2	7	56170610	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	3066468	56170610	102968053	262	79084											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73950527	73950527	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccaaagacaccacgaagcTggagccagccagcccgccag	10	16	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:73950527T>C	uc003uaq.2	+	11	1724	c.1331T>C	c.(1330-1332)CTG>CCG	p.L444P	GTF2IRD1_uc010lbq.2_Missense_Mutation_p.L476P|GTF2IRD1_uc003uap.2_Missense_Mutation_p.L444P|GTF2IRD1_uc003uar.1_Missense_Mutation_p.L444P	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	444						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						ACCACGAAGCTGGAGCCAGCC	0.642													C	73950527	T	C	73950527	3	2	136	1	0	0	0	0	1	0	0	0	6868	1580	55	3	1369	3	GTF2IRD1	7	73950527	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	17779917	73950527	85188136	263	79085											
NCF1	653361	broad.mit.edu	37	chr7	74193722	74193722	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtccccacctcctcgacTtcttcaaggtgcgccctgat	8	17	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:74193722T>G	uc003ubb.2	+	4	419	c.349T>G	c.(349-351)TTC>GTC	p.F117V	NCF1_uc010lbs.1_Missense_Mutation_p.F117V|NCF1_uc011kfh.1_Intron	NM_000265	NP_000256	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	117	PX.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			skin(1)	1						CCTCCTCGACTTCTTCAAGGT	0.502													G	74193722	T	G	74193722	3	3	136	1	0	0	0	0	1	0	0	0	10216	1609	56	5	363	5	NCF1	7	74193722	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	243195	74193722	84944941	264	79086											
AKAP9	10142	broad.mit.edu	37	chr7	91667822	91667822	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatactgcatcatcaaagcaAgcacatgctgtgtgtcagca	8	10	3	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:91667822A>C	uc003ulg.2	+	17	4653	c.4428A>C	c.(4426-4428)CAA>CAC	p.Q1476H	AKAP9_uc003ule.2_Missense_Mutation_p.Q1488H|AKAP9_uc003ulf.2_Missense_Mutation_p.Q1476H|AKAP9_uc003uli.2_Missense_Mutation_p.Q1101H	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1488					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CATCAAAGCAAGCACATGCTG	0.338			T	BRAF	papillary thyroid								C	91667822	A	C	91667822	3	2	136	1	0	0	0	0	1	0	0	0	459	69	3	5	4494	5	AKAP9	7	91667822	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	17474100	91667822	67470841	265	79087											
AKAP9	10142	broad.mit.edu	37	chr7	91730334	91730334	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaatgactctttacttcaAactctgagccctgattctga	6	10	4	5			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:91730334A>C	uc003ulg.2	+	45	11286	c.11061A>C	c.(11059-11061)CAA>CAC	p.Q3687H	AKAP9_uc003ulf.2_Missense_Mutation_p.Q3679H|AKAP9_uc003uli.2_Missense_Mutation_p.Q3310H|AKAP9_uc003ulj.2_Missense_Mutation_p.Q1457H|AKAP9_uc003ull.2_Missense_Mutation_p.Q583H	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3691					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTTACTTCAAACTCTGAGCC	0.388			T	BRAF	papillary thyroid								C	91730334	A	C	91730334	3	2	136	1	0	0	0	0	1	0	0	0	459	11	1	5	11239	5	AKAP9	7	91730334	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	62512	91730334	67408329	266	79088											
SAMD9L	219285	broad.mit.edu	37	chr7	92764157	92764157	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttcagcctcttttctAgatgctaccagtgactttaa	5	11	5	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:92764157A>G	uc003umh.1	-	5	2344	c.1128T>C	c.(1126-1128)TCT>TCC	p.S376S	SAMD9L_uc003umj.1_Silent_p.S376S|SAMD9L_uc003umi.1_Silent_p.S376S|SAMD9L_uc010lfb.1_Silent_p.S376S|SAMD9L_uc003umk.1_Silent_p.S376S|SAMD9L_uc010lfc.1_Silent_p.S376S|SAMD9L_uc010lfd.1_Silent_p.S376S|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	376										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCTCTTTTCTAGATGCTACCA	0.423													G	92764157	A	G	92764157	2	3	136	1	0	0	0	0	0	0	0	1	13827	407	15	3		3	SAMD9L	7	92764157	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	1033823	92764157	66374506	267	79089											
ARPC1B	10095	broad.mit.edu	37	chr7	98985726	98985726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaccgcaacgcctacgtGtggacgctgaagggccgcac	13	14	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:98985726G>A	uc003upz.2	+	4	323	c.234G>A	c.(232-234)GTG>GTA	p.V78V	ARPC1A_uc011kit.1_RNA|ARPC1B_uc003uqa.2_Silent_p.V78V|ARPC1B_uc003uqb.2_Silent_p.V78V|ARPC1B_uc003uqc.2_Silent_p.V78V|ARPC1B_uc003uqd.2_5'Flank	NM_005720	NP_005711	O15143	ARC1B_HUMAN	actin related protein 2/3 complex subunit 1B	78	WD 2.				cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton				0	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			ACGCCTACGTGTGGACGCTGA	0.642													A	98985726	G	A	98985726	2	1	136	1	0	0	0	0	0	0	0	1	970	1364	48	4		4	ARPC1B	7	98985726	Silent	SNP	G	TCGA-CD-5801-01A-11D-1600-08	6221569	98985726	60152937	268	79090											
CYP3A43	64816	broad.mit.edu	37	chr7	99447302	99447302	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aattggattttttggatcccTttttactcttaatatgtatg	6	5	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:99447302T>G	uc003urx.1	+	7	758	c.655T>G	c.(655-657)TTT>GTT	p.F219V	CYP3A43_uc003ury.1_Missense_Mutation_p.F219V|CYP3A43_uc003urz.1_Missense_Mutation_p.F219V|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_Missense_Mutation_p.L81R	NM_057095	NP_476436	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A,	219			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	TTTGGATCCCTTTTTACTCTT	0.219													G	99447302	T	G	99447302	3	3	136	1	0	0	0	0	1	0	0	0	4179	1609	56	5	681	5	CYP3A43	7	99447302	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	461576	99447302	59691361	269	79091											
MCM7	4176	broad.mit.edu	37	chr7	99693469	99693469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgggagagcagtgcagcaGgtagctgtatgttctgctcc	14	10	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:99693469G>A	uc003usw.1	-	11	2033	c.1523C>T	c.(1522-1524)CCT>CTT	p.P508L	MCM7_uc003usv.1_Missense_Mutation_p.P332L|MCM7_uc003usx.1_Missense_Mutation_p.P332L|uc003usy.1_5'Flank|MIR25_hsa-mir-25|MI0000082_5'Flank|uc003usz.1_5'Flank|MIR93_hsa-mir-93|MI0000095_5'Flank|uc003uta.1_5'Flank|MIR106B_hsa-mir-106b|MI0000734_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	508	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CAGTGCAGCAGGTAGCTGTAT	0.607													A	99693469	G	A	99693469	3	1	136	1	0	0	0	0	1	0	0	0	9392	1000	35	4	656	4	MCM7	7	99693469	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	246167	99693469	59445194	270	79092											
LAMB4	22798	broad.mit.edu	37	chr7	107748104	107748104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgttgagggttcaatatccGagtatttggagtcacaaaca	10	7	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:107748104G>A	uc010ljo.1	-	6	647	c.563C>T	c.(562-564)TCG>TTG	p.S188L	LAMB4_uc003vey.2_Missense_Mutation_p.S188L	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	188	Laminin N-terminal.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						TTCAATATCCGAGTATTTGGA	0.348													A	107748104	G	A	107748104	3	1	136	1	0	0	0	0	1	0	0	0	8613	1059	37	1	4838	1	LAMB4	7	107748104	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	8054635	107748104	51390559	271	79093											
CFTR	1080	broad.mit.edu	37	chr7	117235072	117235072	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tactgtccacaagagcttaaTttttgtgctaatttggtgct	8	7	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:117235072T>G	uc003vjd.2	+	15	2711	c.2579T>G	c.(2578-2580)ATT>AGT	p.I860S	CFTR_uc011knq.1_Missense_Mutation_p.I266S	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	860	Helical; Name=7; (Potential).|ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AAGAGCTTAATTTTTGTGCTA	0.338									Cystic_Fibrosis				G	117235072	T	G	117235072	3	3	136	1	0	0	0	0	1	0	0	0	3294	1493	52	5	2637	5	CFTR	7	117235072	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	9486968	117235072	41903591	272	79094											
CFTR	1080	broad.mit.edu	37	chr7	117243768	117243768	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctaatcacagtgtcgaaaaTtttacaccacaaaatgttac	4	9	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:117243768T>G	uc003vjd.2	+	17	2972	c.2840T>G	c.(2839-2841)ATT>AGT	p.I947S	CFTR_uc011knq.1_Missense_Mutation_p.I353S	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	947	Cytoplasmic (Potential).|ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GTGTCGAAAATTTTACACCAC	0.403									Cystic_Fibrosis				G	117243768	T	G	117243768	3	3	136	1	0	0	0	0	1	0	0	0	3294	1493	52	5	2906	5	CFTR	7	117243768	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	8696	117243768	41894895	273	79095											
WNT16	51384	broad.mit.edu	37	chr7	120965524	120965524	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacaggggcttctcaaaagAcctccctatggtgggttttg	11	10	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:120965524A>G	uc003vjv.2	+	1	104	c.55A>G	c.(55-57)ACC>GCC	p.T19A		NM_016087	NP_057171	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family,	Error:Variant_position_missing_in_Q9UBV4_after_alignment					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			lung(2)|ovary(2)|large_intestine(1)	5	all_neural(327;0.117)					TTCTCAAAAGACCTCCCTATG	0.448													G	120965524	A	G	120965524	3	3	136	1	0	0	0	0	1	0	0	0	17382	275	10	3	57	3	WNT16	7	120965524	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	3721756	120965524	38173139	274	79096											
LMOD2	442721	broad.mit.edu	37	chr7	123302476	123302476	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtaaacgtcgagtccaactTcataacgggaaaggggatcc	11	10	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:123302476T>C	uc003vky.2	+	2	993	c.836T>C	c.(835-837)TTC>TCC	p.F279S		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	279						cytoskeleton	actin binding|tropomyosin binding				0						GAGTCCAACTTCATAACGGGA	0.547													C	123302476	T	C	123302476	3	2	136	1	0	0	0	0	1	0	0	0	8857	1783	62	3	842	3	LMOD2	7	123302476	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	2336952	123302476	35836187	275	79097											
PAX4	5078	broad.mit.edu	37	chr7	127253104	127253104	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcatttcccacttgagcttCtcttgccgacgccatttggc	8	14	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:127253104C>T	uc010lld.1	-	6	869	c.663G>A	c.(661-663)GAG>GAA	p.E221E	PAX4_uc003vmf.2_Silent_p.E219E|PAX4_uc003vmg.1_Silent_p.E221E|PAX4_uc003vmh.2_Silent_p.E219E	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	229	Homeobox.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						ACTTGAGCTTCTCTTGCCGAC	0.448													T	127253104	C	T	127253104	2	4	136	1	0	0	0	0	0	0	0	1	11481	912	32	4		4	PAX4	7	127253104	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	3950628	127253104	31885559	276	79098											
PLXNA4	91584	broad.mit.edu	37	chr7	131815261	131815261	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtctaagctcatgagggTtatgacttgttctagtttgt	11	6	3	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:131815261T>G	uc003vra.3	-	32	5891	c.5662A>C	c.(5662-5664)ACC>CCC	p.T1888P	PLXNA4_uc003vqz.3_Missense_Mutation_p.T173P	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1888	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						CTCATGAGGGTTATGACTTGT	0.532													G	131815261	T	G	131815261	3	3	136	1	0	0	0	0	1	0	0	0	12122	1725	60	5	26	5	PLXNA4	7	131815261	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	4562157	131815261	27323402	277	79099											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138455901	138455901	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaactgaaccaatccgagcTctccgagctcagccacacag	8	15	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:138455901T>C	uc003vuf.2	-	2	330	c.92A>G	c.(91-93)GAG>GGG	p.E31G	ATP6V0A4_uc003vug.2_Missense_Mutation_p.E31G|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.E31G	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	31	Cytoplasmic (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1						CAATCCGAGCTCTCCGAGCTC	0.478													C	138455901	T	C	138455901	3	2	136	1	0	0	0	0	1	0	0	0	1170	1551	54	3	2510	3	ATP6V0A4	7	138455901	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	6640640	138455901	20682762	278	79100											
LUC7L2	51631	broad.mit.edu	37	chr7	139092001	139092001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtctgctctgcctatttaGgacttcatgataatgacaga	8	8	3	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:139092001G>A	uc003vux.2	+	6	966	c.592G>A	c.(592-594)GGA>AGA	p.G198R	LUC7L2_uc011kqs.1_Missense_Mutation_p.G195R|LUC7L2_uc011kqt.1_Missense_Mutation_p.G264R|LUC7L2_uc003vuy.2_Missense_Mutation_p.G197R|LUC7L2_uc003vuz.1_Missense_Mutation_p.G145R|LUC7L2_uc003vva.2_Missense_Mutation_p.G145R	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN	LUC7-like 2	198	C2H2-type; atypical.						enzyme binding|metal ion binding				0	Melanoma(164;0.242)					TGCCTATTTAGGACTTCATGA	0.398													A	139092001	G	A	139092001	3	1	136	1	0	0	0	0	1	0	0	0	9083	1001	35	4	614	4	LUC7L2	7	139092001	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	636100	139092001	20046662	279	79101											
BRAF	673	broad.mit.edu	37	chr7	140453134	140453134	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacccactccatcgagattTcactgtagctagaccaaaat	7	12	1	2	rs121913377		TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:140453134T>C	uc003vwc.3	-	15	1862	c.1801A>G	c.(1801-1803)AAA>GAA	p.K601E		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	601	Protein kinase.		K -> Q (in CFC syndrome).|K -> E (in colorectal cancer).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.K601E(47)|p.V600_K601>E(8)|p.K601N(7)|p.K601del(4)|p.K601Q(3)|p.T599_R603>I(2)|p.V600_W604del(1)|p.K601K(1)|p.K601L(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.K601I(1)	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	CATCGAGATTTCACTGTAGCT	0.368		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				C	140453134	T	C	140453134	3	2	136	1	0	0	0	0	1	0	0	0	1496	1792	62	3	515	3	BRAF	7	140453134	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1361133	140453134	18685529	280	79102											
TAS2R5	54429	broad.mit.edu	37	chr7	141491039	141491039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtggaagacagtgtgtgCtcggagatgctggggcccat	16	9	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:141491039C>T	uc003vwr.1	+	1	1023	c.878C>T	c.(877-879)GCT>GTT	p.A293V		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	taste receptor T2R5	293	Cytoplasmic (Potential).				chemosensory behavior|sensory perception of taste		taste receptor activity				0	Melanoma(164;0.0171)					ACAGTGTGTGCTCGGAGATGC	0.493													T	141491039	C	T	141491039	3	4	136	1	0	0	0	0	1	0	0	0	15580	797	28	2	880	2	TAS2R5	7	141491039	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	1037905	141491039	17647624	281	79103											
PRSS1	5644	broad.mit.edu	37	chr7	142460771	142460771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagctccaaggagttgtctCctggggtgatggctgtgccc	14	11	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:142460771C>T	uc003wak.2	+	5	661	c.644C>T	c.(643-645)TCC>TTC	p.S215F	uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.S155F	NM_002769	NP_002760	P07477	TRY1_HUMAN	protease, serine, 1 preproprotein	215	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GGAGTTGTCTCCTGGGGTGAT	0.502									Hereditary_Pancreatitis				T	142460771	C	T	142460771	3	4	136	1	0	0	0	0	1	0	0	0	12614	855	30	4	662	4	PRSS1	7	142460771	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	969732	142460771	16677892	282	79104											
ZNF425	155054	broad.mit.edu	37	chr7	148801048	148801048	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttgccgcacatcacacaagAgaatggcttttggccactgt	9	11	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:148801048A>T	uc003wfj.2	-	4	1988	c.1915T>A	c.(1915-1917)TCT>ACT	p.S639T		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	639	C2H2-type 16.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ATCACACAAGAGAATGGCTTT	0.537													T	148801048	A	T	148801048	3	4	136	1	0	0	0	0	1	0	0	0	17896	304	11	5	347	5	ZNF425	7	148801048	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	6340277	148801048	10337615	283	79105											
MLL3	58508	broad.mit.edu	37	chr7	151860106	151860106	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttccaacagggattgatggtGaatcaggaacaaatgaagga	12	5	1	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr7:151860106G>A	uc003wla.2	-	43	10775	c.10556C>T	c.(10555-10557)TCA>TTA	p.S3519L	MLL3_uc003wkz.2_Missense_Mutation_p.S2580L|MLL3_uc003wky.2_Missense_Mutation_p.S1028L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3519					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GATTGATGGTGAATCAGGAAC	0.468			N		medulloblastoma								A	151860106	G	A	151860106	3	1	136	1	0	0	0	0	1	0	0	0	9622	1294	45	4	4247	4	MLL3	7	151860106	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	3059058	151860106	7278557	284	79106											
MYOM2	9172	broad.mit.edu	37	chr8	2063895	2063895	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctctagttcttattggagaTggtatgctatatcgaatatt	8	5	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr8:2063895T>A	uc003wpx.3	+	26	3462	c.3324T>A	c.(3322-3324)GAT>GAA	p.D1108E	MYOM2_uc011kwi.1_Missense_Mutation_p.D533E	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	1108					muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TTATTGGAGATGGTATGCTAT	0.343													A	2063895	T	A	2063895	3	1	136	1	0	0	0	0	1	0	0	0	10092	1478	51	5	3422	5	MYOM2	8	2063895	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08		2063895	144300127	285	79107											
XKR6	286046	broad.mit.edu	37	chr8	10755462	10755462	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaacttggtcaagatgctcTtagagtgaagactcatactg	9	8	4	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr8:10755462T>G	uc003wtk.1	-	3	1953	c.1926A>C	c.(1924-1926)TAA>TAC	p.*642Y		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	642						integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CAAGATGCTCTTAGAGTGAAG	0.448													G	10755462	T	G	10755462	4	3	136	1	0	0	0	0	0	0	0	0	17432	1616	56	5	3	5	XKR6	8	10755462	Nonstop_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	8691567	10755462	135608560	286	79108											
FBXO16	157574	broad.mit.edu	37	chr8	28340913	28340913	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtccaggtgctcatcttTgtctgcattttgggaccatc	11	10	3	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr8:28340913T>A	uc003xgu.2	-	2	149	c.51A>T	c.(49-51)ACA>ACT	p.T17T	ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Silent_p.T16T|FBXO16_uc003xgw.2_Silent_p.T16T	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN	F-box only protein 16	17										ovary(1)	1		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TGCTCATCTTTGTCTGCATTT	0.398													A	28340913	T	A	28340913	2	1	136	1	0	0	0	0	0	0	0	1	5729	1799	63	5		5	FBXO16	8	28340913	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	17585451	28340913	118023109	287	79109											
WHSC1L1	54904	broad.mit.edu	37	chr8	38146168	38146168	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaacattctgttcaggcacTccgattccaagccacaaggg	9	13	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr8:38146168T>C	uc003xli.2	-	19	3856	c.3338A>G	c.(3337-3339)GAG>GGG	p.E1113G	WHSC1L1_uc011lbm.1_Missense_Mutation_p.E1113G|WHSC1L1_uc010lwe.2_Missense_Mutation_p.E1064G	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	1113	AWS.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GTTCAGGCACTCCGATTCCAA	0.498			T	NUP98	AML								C	38146168	T	C	38146168	3	2	136	1	0	0	0	0	1	0	0	0	17360	1551	54	3	999	3	WHSC1L1	8	38146168	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	9805255	38146168	108217854	288	79110											
KCNB2	9312	broad.mit.edu	37	chr8	73848915	73848915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggagggaggctcttgagcGggccaaaaggaacggaagca	17	7	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr8:73848915G>A	uc003xzb.2	+	3	1913	c.1325G>A	c.(1324-1326)CGG>CAG	p.R442Q		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	442	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			GCTCTTGAGCGGGCCAAAAGG	0.448													A	73848915	G	A	73848915	3	1	136	1	0	0	0	0	1	0	0	0	8013	1116	39	1	1331	1	KCNB2	8	73848915	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	35702747	73848915	72515107	289	79111											
MATN2	4147	broad.mit.edu	37	chr8	99030226	99030226	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctcctgtcttcagggaaAgatgtctgccaagctataga	10	10	4	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr8:99030226A>G	uc003yic.2	+	12	1932	c.1701A>G	c.(1699-1701)AAA>AAG	p.K567K	MATN2_uc010mbh.1_Silent_p.K526K|MATN2_uc003yid.2_Silent_p.K567K|MATN2_uc003yie.1_Silent_p.K567K|MATN2_uc010mbi.1_Silent_p.K400K|MATN2_uc010mbj.1_Silent_p.K66K	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	567	EGF-like 9.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CTTCAGGGAAAGATGTCTGCC	0.483													G	99030226	A	G	99030226	2	3	136	1	0	0	0	0	0	0	0	1	9334	69	3	3		3	MATN2	8	99030226	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	25181311	99030226	47333796	290	79112											
RIMS2	9699	broad.mit.edu	37	chr8	105026758	105026758	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcctcgtactgggtctgtCcagacaagcccatcaagtac	8	14	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr8:105026758C>T	uc003yls.2	+	17	2710	c.2469C>T	c.(2467-2469)GTC>GTT	p.V823V	RIMS2_uc003ylp.2_Silent_p.V1083V|RIMS2_uc003ylw.2_Silent_p.V897V|RIMS2_uc003ylq.2_Silent_p.V897V|RIMS2_uc003ylr.2_Silent_p.V922V	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1145					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTGGGTCTGTCCAGACAAGCC	0.413										HNSCC(12;0.0054)			T	105026758	C	T	105026758	2	4	136	1	0	0	0	0	0	0	0	1	13368	842	30	4		4	RIMS2	8	105026758	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	5996532	105026758	41337264	291	79113											
TM7SF4	81501	broad.mit.edu	37	chr8	105361784	105361784	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagcttgccagggtttgAggttcacttgaaactgcacg	11	9	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr8:105361784A>G	uc003ylx.1	+	2	1053	c.1004A>G	c.(1003-1005)GAG>GGG	p.E335G		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	335					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCAGGGTTTGAGGTTCACTTG	0.363													G	105361784	A	G	105361784	3	3	136	1	0	0	0	0	1	0	0	0	15973	304	11	3	1006	3	TM7SF4	8	105361784	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	335026	105361784	41002238	292	79114											
EBAG9	9166	broad.mit.edu	37	chr8	110569190	110569190	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attaagaagagagaaccattGaattttggcatcccagatgg	10	6	0	5			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr8:110569190G>T	uc003ynf.2	+	5	583	c.348G>T	c.(346-348)TTG>TTT	p.L116F	EBAG9_uc010mcn.1_RNA|EBAG9_uc003yng.2_Missense_Mutation_p.L116F	NM_198120	NP_936056	O00559	RCAS1_HUMAN	estrogen receptor binding site associated	116	Cytoplasmic (Potential).				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity				0			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			GAGAACCATTGAATTTTGGCA	0.328													T	110569190	G	T	110569190	3	4	136	1	0	0	0	0	1	0	0	0	4879	1281	45	5	362	5	EBAG9	8	110569190	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	5207406	110569190	35794832	293	79115											
KLHL38	340359	broad.mit.edu	37	chr8	124664441	124664441	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcatgcaggcgaggactgCaggagggcatcgttggcgat	18	8	0	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr8:124664441C>A	uc003yqs.1	-	1	750	c.726G>T	c.(724-726)CTG>CTT	p.L242L		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	kelch-like 38	242											0						GCGAGGACTGCAGGAGGGCAT	0.557													A	124664441	C	A	124664441	2	1	136	1	0	0	0	0	0	0	0	1	8390	697	25	5		5	KLHL38	8	124664441	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	14095251	124664441	21699581	294	79116											
FAM91A1	157769	broad.mit.edu	37	chr8	124801950	124801950	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcataacaaagatctagTtgcgcaaactgcacagccag	9	11	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr8:124801950T>G	uc003yqv.2	+	15	1437	c.1376T>G	c.(1375-1377)GTT>GGT	p.V459G	FAM91A1_uc011lik.1_Missense_Mutation_p.V459G|FAM91A1_uc011lil.1_Missense_Mutation_p.V217G	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	459										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AAAGATCTAGTTGCGCAAACT	0.348													G	124801950	T	G	124801950	3	3	136	1	0	0	0	0	1	0	0	0	5651	1725	60	5	1434	5	FAM91A1	8	124801950	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	137509	124801950	21562072	295	79117											
FER1L6	654463	broad.mit.edu	37	chr8	124985675	124985675	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctctctctcctcaggTctttcaccacaagctgatag	6	15	5	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr8:124985675T>C	uc003yqw.2	+	7	655	c.449T>C	c.(448-450)GTC>GCC	p.V150A		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	150	C2 1.|Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCTCCTCAGGTCTTTCACCAC	0.493													C	124985675	T	C	124985675	3	2	136	1	0	0	0	0	1	0	0	0	5815	1681	58	3	471	3	FER1L6	8	124985675	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	183725	124985675	21378347	296	79118											
BAI1	575	broad.mit.edu	37	chr8	143623495	143623495	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcccggcgggcccctgccCgacttccccaaccactcact	7	21	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr8:143623495C>T	uc003ywm.2	+	27	4083	c.3900C>T	c.(3898-3900)CCC>CCT	p.P1300P		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1300	Cytoplasmic (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGCCCCTGCCCGACTTCCCCA	0.647													T	143623495	C	T	143623495	2	4	136	1	0	0	0	0	0	0	0	1	1298	639	23	1		1	BAI1	8	143623495	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	18637820	143623495	2740527	297	79119											
PTPRD	5789	broad.mit.edu	37	chr9	8521506	8521506	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctggcatgatttcatgAttagtgggtgggatagagaa	14	6	1	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:8521506A>T	uc003zkk.2	-	19	1443	c.732T>A	c.(730-732)AAT>AAA	p.N244K	PTPRD_uc003zkp.2_Missense_Mutation_p.N244K|PTPRD_uc003zkq.2_Missense_Mutation_p.N244K|PTPRD_uc003zkr.2_Missense_Mutation_p.N238K|PTPRD_uc003zks.2_Missense_Mutation_p.N234K|PTPRD_uc003zkl.2_Missense_Mutation_p.N244K|PTPRD_uc003zkm.2_Missense_Mutation_p.N231K|PTPRD_uc003zkn.2_Missense_Mutation_p.N244K|PTPRD_uc003zko.2_Missense_Mutation_p.N241K	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	244	Extracellular (Potential).|Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGATTTCATGATTAGTGGGTG	0.453										TSP Lung(15;0.13)			T	8521506	A	T	8521506	3	4	136	1	0	0	0	0	1	0	0	0	12799	330	12	5	5182	5	PTPRD	9	8521506	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08		8521506	132691925	298	79120											
NFIB	4781	broad.mit.edu	37	chr9	14307364	14307364	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgatttcaggcttttcactGagaagctcatctttgactgc	8	9	4	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:14307364G>A	uc003zle.2	-	2	621	c.186C>T	c.(184-186)CTC>CTT	p.L62L	NFIB_uc003zlf.2_Silent_p.L62L|NFIB_uc011lmo.1_Silent_p.L62L	NM_005596	NP_005587	O00712	NFIB_HUMAN	nuclear factor I/B	62	CTF/NF-I.				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity				0				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GCTTTTCACTGAGAAGCTCAT	0.458			T	MYB|HGMA2	adenoid cystic carcinoma|lipoma								A	14307364	G	A	14307364	2	1	136	1	0	0	0	0	0	0	0	1	10371	1277	45	4		4	NFIB	9	14307364	Silent	SNP	G	TCGA-CD-5801-01A-11D-1600-08	5785858	14307364	126906067	299	79121											
PTPLAD2	401494	broad.mit.edu	37	chr9	21029331	21029331	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctgactgtcatatttgtAaatatccaagagtggccaca	7	8	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:21029331A>G	uc010miq.1	-	2	151	c.105T>C	c.(103-105)TTT>TTC	p.F35F	PTPLAD2_uc003zoj.1_5'UTR|PTPLAD2_uc010mir.1_Silent_p.F35F	NM_001010915	NP_001010915	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain	35	Helical; (Potential).				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			skin(1)	1				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TCATATTTGTAAATATCCAAG	0.313													G	21029331	A	G	21029331	2	3	136	1	0	0	0	0	0	0	0	1	12776	359	13	3		3	PTPLAD2	9	21029331	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	6721967	21029331	120184100	300	79122											
IFNA5	3442	broad.mit.edu	37	chr9	21304795	21304795	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtatttcttctctgtcAgatagagggtgattctttga	11	6	4	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:21304795A>G	uc011lnh.1	-	1	461	c.461T>C	c.(460-462)CTG>CCG	p.L154P		NM_002169	NP_002160	P01569	IFNA5_HUMAN	interferon, alpha 5 precursor	154					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			ovary(1)	1				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTTCTCTGTCAGATAGAGGGT	0.438													G	21304795	A	G	21304795	3	3	136	1	0	0	0	0	1	0	0	0	7540	188	7	3	112	3	IFNA5	9	21304795	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	275464	21304795	119908636	301	79123											
UBAP2	55833	broad.mit.edu	37	chr9	33943446	33943446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcgaatacaagctgatggGaatctgattactattttcac	7	8	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:33943446G>A	uc003ztq.1	-	15	1800	c.1687C>T	c.(1687-1689)CCC>TCC	p.P563S	UBAP2_uc011loc.1_Missense_Mutation_p.P472S|UBAP2_uc011lod.1_Missense_Mutation_p.P296S|UBAP2_uc011loe.1_Missense_Mutation_p.P318S|UBAP2_uc011lof.1_Missense_Mutation_p.P488S|UBAP2_uc011log.1_Missense_Mutation_p.P509S|UBAP2_uc003ztr.2_Missense_Mutation_p.P435S|UBAP2_uc003zts.2_Missense_Mutation_p.P196S	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	563										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		AAGCTGATGGGAATCTGATTA	0.393													A	33943446	G	A	33943446	3	1	136	1	0	0	0	0	1	0	0	0	16834	1174	41	4	1732	4	UBAP2	9	33943446	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	12638651	33943446	107269985	302	79124											
TMEM8B	51754	broad.mit.edu	37	chr9	35846984	35846984	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctacaccttcaccatgttcTtctccacggtatgcggtggt	8	13	4	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:35846984T>G	uc003zym.2	+	11	1826	c.811T>G	c.(811-813)TTC>GTC	p.F271V	TMEM8B_uc003zyk.2_Missense_Mutation_p.F271V|TMEM8B_uc003zyl.2_Missense_Mutation_p.F438V|TMEM8B_uc003zyn.2_Missense_Mutation_p.L166R|TMEM8B_uc003zyo.2_Missense_Mutation_p.F271V	NM_001042589	NP_001036054	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B isoform a	271	Helical; (Potential).				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			ovary(1)	1						CACCATGTTCTTCTCCACGGT	0.547													G	35846984	T	G	35846984	3	3	136	1	0	0	0	0	1	0	0	0	16212	1609	56	5	829	5	TMEM8B	9	35846984	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1903538	35846984	105366447	303	79125											
RECK	8434	broad.mit.edu	37	chr9	36112368	36112368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgggcgcacttaccccaGtgcctgcattgctcgctgtg	12	13	0	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:36112368G>A	uc003zyv.2	+	16	2041	c.1955G>A	c.(1954-1956)AGT>AAT	p.S652N	RECK_uc003zyw.2_Missense_Mutation_p.S524N|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	652	Kazal-like 1.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ACTTACCCCAGTGCCTGCATT	0.488													A	36112368	G	A	36112368	3	1	136	1	0	0	0	0	1	0	0	0	13200	1029	36	4	2017	4	RECK	9	36112368	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	265384	36112368	105101063	304	79126											
ZCCHC7	84186	broad.mit.edu	37	chr9	37356915	37356915	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaacccccaccatgatataAggaagggccgtgcctcatgg	11	12	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:37356915A>G	uc003zzq.2	+	9	1455	c.1282A>G	c.(1282-1284)AGG>GGG	p.R428G	ZCCHC7_uc011lqh.1_Missense_Mutation_p.R138G|ZCCHC7_uc011lqi.1_Missense_Mutation_p.R427G|ZCCHC7_uc010mlt.2_Missense_Mutation_p.R427G	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	428							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(29;0.0137)		CCATGATATAAGGAAGGGCCG	0.398													G	37356915	A	G	37356915	3	3	136	1	0	0	0	0	1	0	0	0	17590	63	3	3	1312	3	ZCCHC7	9	37356915	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	1244547	37356915	103856516	305	79127											
ZNF658	26149	broad.mit.edu	37	chr9	40784134	40784134	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctctggttcaggaattcatCttctaaagaccatggctctt	7	11	6	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:40784134C>A	uc004abs.2	-	4	363	c.211G>T	c.(211-213)GAT>TAT	p.D71Y	ZNF658_uc010mmm.1_Missense_Mutation_p.D71Y|ZNF658_uc010mmn.1_Missense_Mutation_p.D71Y	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	zinc finger protein 658	71	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGGAATTCATCTTCTAAAGAC	0.433													A	40784134	C	A	40784134	3	1	136	1	0	0	0	0	1	0	0	0	18066	913	32	5	2976	5	ZNF658	9	40784134	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	3427219	40784134	100429297	306	79128											
TRPM3	80036	broad.mit.edu	37	chr9	73151027	73151027	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcgagtttgtcactgaTggagaagctcttcctggtgt	12	9	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:73151027T>C	uc004aid.2	-	25	5210	c.4966A>G	c.(4966-4968)ATC>GTC	p.I1656V	TRPM3_uc004ahu.2_Missense_Mutation_p.I1498V|TRPM3_uc004ahv.2_Missense_Mutation_p.I1458V|TRPM3_uc004ahw.2_Missense_Mutation_p.I1528V|TRPM3_uc004ahx.2_Missense_Mutation_p.I1515V|TRPM3_uc004ahy.2_Missense_Mutation_p.I1518V|TRPM3_uc004ahz.2_Missense_Mutation_p.I1505V|TRPM3_uc004aia.2_Missense_Mutation_p.I1503V|TRPM3_uc004aib.2_Missense_Mutation_p.I1493V|TRPM3_uc004aic.2_Intron	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1681	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						TTGTCACTGATGGAGAAGCTC	0.577													C	73151027	T	C	73151027	3	2	136	1	0	0	0	0	1	0	0	0	16584	1464	51	3	161	3	TRPM3	9	73151027	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	32366893	73151027	68062404	307	79129											
TRPM3	80036	broad.mit.edu	37	chr9	73151754	73151754	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattgtccagagggtctatAtcacagtggagctcatccat	10	9	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:73151754A>C	uc004aid.2	-	25	4483	c.4239T>G	c.(4237-4239)GAT>GAG	p.D1413E	TRPM3_uc004ahu.2_Missense_Mutation_p.D1255E|TRPM3_uc004ahv.2_Missense_Mutation_p.D1215E|TRPM3_uc004ahw.2_Missense_Mutation_p.D1285E|TRPM3_uc004ahx.2_Missense_Mutation_p.D1272E|TRPM3_uc004ahy.2_Missense_Mutation_p.D1275E|TRPM3_uc004ahz.2_Missense_Mutation_p.D1262E|TRPM3_uc004aia.2_Missense_Mutation_p.D1260E|TRPM3_uc004aib.2_Missense_Mutation_p.D1250E|TRPM3_uc004aic.2_Intron	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1438	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						GAGGGTCTATATCACAGTGGA	0.507													C	73151754	A	C	73151754	3	2	136	1	0	0	0	0	1	0	0	0	16584	446	16	5	888	5	TRPM3	9	73151754	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	727	73151754	68061677	308	79130											
ALDH1A1	216	broad.mit.edu	37	chr9	75567908	75567908	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtaagtctggcgtgcctgaGgatgacatttctgattcggc	14	8	2	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:75567908G>T	uc004ajd.2	-	1	62	c.9C>A	c.(7-9)TCC>TCA	p.S3S	ALDH1A1_uc011lsh.1_Intron	NM_000689	NP_000680	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1A1	3					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			ovary(3)|lung(1)	4					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GCGTGCCTGAGGATGACATTT	0.428													T	75567908	G	T	75567908	2	4	136	1	0	0	0	0	0	0	0	1	490	987	35	5		5	ALDH1A1	9	75567908	Silent	SNP	G	TCGA-CD-5801-01A-11D-1600-08	2416154	75567908	65645523	309	79131											
PRUNE2	158471	broad.mit.edu	37	chr9	79325825	79325825	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agggtgtggtgaggcccagcAccttctcccacggggctgtc	15	13	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:79325825A>T	uc010mpk.2	-	8	1489	c.1365T>A	c.(1363-1365)GGT>GGA	p.G455G		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	455					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						GAGGCCCAGCACCTTCTCCCA	0.607													T	79325825	A	T	79325825	2	4	136	1	0	0	0	0	0	0	0	1	12641	146	6	5		5	PRUNE2	9	79325825	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	3757917	79325825	61887606	310	79132											
C9orf103	414328	broad.mit.edu	37	chr9	86258448	86258448	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtagctctgaagtgtgAggagtcgggaaaggaagcaa	17	4	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:86258448A>G	uc004amu.1	+	5	331	c.317A>G	c.(316-318)GAG>GGG	p.E106G	C9orf103_uc004amt.1_Missense_Mutation_p.E60G|C9orf103_uc010mpv.1_Missense_Mutation_p.E60G	NM_001001551	NP_001001551	Q5T6J7	GNTK_HUMAN	gluconokinase-like protein	106					carbohydrate metabolic process	cytoplasm	ATP binding|gluconokinase activity|shikimate kinase activity				0						CTGAAGTGTGAGGAGTCGGGA	0.512													G	86258448	A	G	86258448	3	3	136	1	0	0	0	0	1	0	0	0	2446	304	11	3	189	3	C9orf103	9	86258448	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	6932623	86258448	54954983	311	79133											
KIF27	55582	broad.mit.edu	37	chr9	86457159	86457159	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaagtcttacactctgaTggtgctagttgccgccgaat	9	10	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:86457159T>G	uc004ana.2	-	17	3858	c.3714A>C	c.(3712-3714)CCA>CCC	p.P1238P	KIF27_uc010mpw.2_Silent_p.P1172P|KIF27_uc010mpx.2_Silent_p.P1141P	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	1238					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						TACACTCTGATGGTGCTAGTT	0.408													G	86457159	T	G	86457159	2	3	136	1	0	0	0	0	0	0	0	1	8296	1451	51	5		5	KIF27	9	86457159	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	198711	86457159	54756272	312	79134											
ZNF782	158431	broad.mit.edu	37	chr9	99580994	99580994	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggttctctggtgtattctTaggcctgactttgcactgaa	11	8	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:99580994T>G	uc004awp.1	-	6	1592	c.1311A>C	c.(1309-1311)CTA>CTC	p.L437L	ZNF782_uc011lup.1_Silent_p.L305L	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	437	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				GGTGTATTCTTAGGCCTGACT	0.418													G	99580994	T	G	99580994	2	3	136	1	0	0	0	0	0	0	0	1	18152	1741	61	5		5	ZNF782	9	99580994	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	13123835	99580994	41632437	313	79135											
TEX10	54881	broad.mit.edu	37	chr9	103111616	103111616	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaattttactttttgaaaAtcatgttggcgttttctttt	5	5	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:103111616A>C	uc004bas.2	-	2	245	c.30T>G	c.(28-30)GAT>GAG	p.D10E	TEX10_uc011lvf.1_5'Flank|TEX10_uc011lvg.1_Missense_Mutation_p.D13E|TEX10_uc011lvh.1_Intron|TEX10_uc004bat.2_Missense_Mutation_p.D10E	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10 isoform 1	10						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		CTTTTTGAAAATCATGTTGGC	0.294													C	103111616	A	C	103111616	3	2	136	1	0	0	0	0	1	0	0	0	15769	98	4	5	2815	5	TEX10	9	103111616	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	3530622	103111616	38101815	314	79136											
TMEFF1	8577	broad.mit.edu	37	chr9	103204421	103204421	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcgtgtccctgcgggatttCaaacagctgaagaagtgctg	13	9	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:103204421C>T	uc004bay.1	+	1	234	c.201C>T	c.(199-201)TTC>TTT	p.F67F	C9orf30_uc004baw.2_Silent_p.F67F|C9orf30_uc004bax.2_RNA	NM_003692	NP_003683	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two	Error:Variant_position_missing_in_Q8IYR6_after_alignment					multicellular organismal development	integral to membrane|plasma membrane					0		Acute lymphoblastic leukemia(62;0.0452)				TGCGGGATTTCAAACAGCTGA	0.527													T	103204421	C	T	103204421	2	4	136	1	0	0	0	0	0	0	0	1	16010	825	29	4		4	TMEFF1	9	103204421	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	92805	103204421	38009010	315	79137											
SLC44A1	23446	broad.mit.edu	37	chr9	108136917	108136917	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctatcaacagcaccaacttCtgcacctcagcaaaggatgc	7	14	3	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:108136917C>A	uc004bcn.2	+	13	1754	c.1533C>A	c.(1531-1533)TTC>TTA	p.F511L	SLC44A1_uc010mtk.1_Missense_Mutation_p.F511L|SLC44A1_uc004bco.1_Missense_Mutation_p.F303L	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	CDW92 antigen	511	Mitochondrial intermembrane (Potential).					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(3)|ovary(1)	4					Choline(DB00122)	GCACCAACTTCTGCACCTCAG	0.413													A	108136917	C	A	108136917	3	1	136	1	0	0	0	0	1	0	0	0	14635	912	32	5	1583	5	SLC44A1	9	108136917	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	4932496	108136917	33076514	316	79138											
LPAR1	1902	broad.mit.edu	37	chr9	113637849	113637849	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaggtggcgctcatttctTtgtcgcggtaggagtaaatg	13	6	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:113637849T>G	uc004bfa.2	-	5	1202	c.947A>C	c.(946-948)AAA>ACA	p.K316T	LPAR1_uc011lwm.1_Missense_Mutation_p.K317T|LPAR1_uc004bfb.2_Missense_Mutation_p.K316T|LPAR1_uc004bfc.2_Missense_Mutation_p.K316T|LPAR1_uc011lwn.1_Missense_Mutation_p.K298T|LPAR1_uc011lwo.1_Missense_Mutation_p.K317T|LPAR1_uc010mub.2_Missense_Mutation_p.K316T	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	316	Cytoplasmic (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				ovary(2)	2						GCTCATTTCTTTGTCGCGGTA	0.557													G	113637849	T	G	113637849	3	3	136	1	0	0	0	0	1	0	0	0	8904	1841	64	5	151	5	LPAR1	9	113637849	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	5500932	113637849	27575582	317	79139											
LPAR1	1902	broad.mit.edu	37	chr9	113704450	113704450	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcattcatggctgtgaacTaaaagaaaaaggagaaaaga	10	4	2	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:113704450T>C	uc004bfa.2	-	4	301	c.46_splice	c.e4-1	p.F16_splice	LPAR1_uc011lwm.1_Splice_Site_p.F17_splice|LPAR1_uc004bfb.2_Splice_Site_p.F16_splice|LPAR1_uc004bfc.2_Splice_Site_p.F16_splice|LPAR1_uc011lwn.1_Splice_Site|LPAR1_uc011lwo.1_Splice_Site_p.F17_splice|LPAR1_uc010mub.2_Splice_Site_p.F16_splice	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1						positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				ovary(2)	2						GGCTGTGAACTAAAAGAAAAA	0.368													C	113704450	T	C	113704450	5	2	136	1	0	0	0	0	0	0	1	0	8904	1536	53	3	1058	3	LPAR1	9	113704450	Splice_Site	SNP	T	TCGA-CD-5801-01A-11D-1600-08	66601	113704450	27508981	318	79140											
SNX30	401548	broad.mit.edu	37	chr9	115579987	115579987	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattctcttctttgcagagTactcgggtggagtttgacct	10	10	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:115579987T>C	uc004bgj.3	+	3	499	c.351T>C	c.(349-351)AGT>AGC	p.S117S		NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	117	PX.				cell communication|protein transport	cytoplasm	phosphatidylinositol binding				0						CTTTGCAGAGTACTCGGGTGG	0.428													C	115579987	T	C	115579987	2	2	136	1	0	0	0	0	0	0	0	1	14900	1635	57	3		3	SNX30	9	115579987	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1875537	115579987	25633444	319	79141											
DBC1	1620	broad.mit.edu	37	chr9	121929915	121929915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagccaaattccccgaagGgcatgttccagccctccgaa	10	14	0	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:121929915G>A	uc004bkc.2	-	8	2189	c.1733C>T	c.(1732-1734)CCC>CTC	p.P578L		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	578					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						TTCCCCGAAGGGCATGTTCCA	0.542													A	121929915	G	A	121929915	3	1	136	1	0	0	0	0	1	0	0	0	4247	1232	43	4	556	4	DBC1	9	121929915	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	6349928	121929915	19283516	320	79142											
NDUFA8	4702	broad.mit.edu	37	chr9	124914536	124914536	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttttacctaaagaagtccAaagcacacttgttgaccagt	6	9	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:124914536A>G	uc004blv.2	-	2	345	c.203T>C	c.(202-204)TTG>TCG	p.L68S		NM_014222	NP_055037	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	68	CHCH 1.				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)	1					NADH(DB00157)	AAAGAAGTCCAAAGCACACTT	0.413													G	124914536	A	G	124914536	3	3	136	1	0	0	0	0	1	0	0	0	10271	131	5	3	327	3	NDUFA8	9	124914536	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	2984621	124914536	16298895	321	79143											
PTGES2	80142	broad.mit.edu	37	chr9	130884681	130884681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggccccccatgaagggcCggtccttgcccacagcagcc	11	18	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:130884681C>T	uc004bti.2	-	6	1443	c.965G>A	c.(964-966)CGG>CAG	p.R322Q	PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_Missense_Mutation_p.R131Q|PTGES2_uc004btl.2_Missense_Mutation_p.R131Q|PTGES2_uc004btm.2_RNA	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	322	GST C-terminal.|Cytoplasmic (Potential).				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity				0						CATGAAGGGCCGGTCCTTGCC	0.647													T	130884681	C	T	130884681	3	4	136	1	0	0	0	0	1	0	0	0	12747	652	23	1	176	1	PTGES2	9	130884681	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	5970145	130884681	10328750	322	79144											
CCBL1	883	broad.mit.edu	37	chr9	131600576	131600576	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaccagcacattcctgAgcgggtctatctcctgaccc	8	16	3	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:131600576A>G	uc004bwh.2	-	4	457	c.272T>C	c.(271-273)CTC>CCC	p.L91P	CCBL1_uc004bwf.2_Missense_Mutation_p.L125P|CCBL1_uc004bwg.2_Intron|CCBL1_uc010myn.2_Missense_Mutation_p.L91P|CCBL1_uc004bwj.2_Intron|CCBL1_uc011mbl.1_Missense_Mutation_p.L185P|CCBL1_uc004bwi.2_RNA|CCBL1_uc010myo.2_Missense_Mutation_p.L91P	NM_004059	NP_004050	Q16773	KAT1_HUMAN	kynurenine aminotransferase I isoform a	91					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	CACATTCCTGAGCGGGTCTAT	0.592													G	131600576	A	G	131600576	3	3	136	1	0	0	0	0	1	0	0	0	2732	304	11	3	1036	3	CCBL1	9	131600576	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	715895	131600576	9612855	323	79145											
OLFM1	10439	broad.mit.edu	37	chr9	138011358	138011358	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctccacaggtgtggtaCatggacggctatcacaacaa	9	12	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:138011358C>T	uc010nar.2	+	6	1108	c.792C>T	c.(790-792)TAC>TAT	p.Y264Y	OLFM1_uc004cfl.3_Silent_p.Y246Y|OLFM1_uc004cfn.3_Silent_p.Y15Y	NM_014279	NP_055094	Q99784	NOE1_HUMAN	olfactomedin related ER localized protein	264	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			ovary(1)|skin(1)	2		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		AGGTGTGGTACATGGACGGCT	0.532													T	138011358	C	T	138011358	2	4	136	1	0	0	0	0	0	0	0	1	10852	489	17	4		4	OLFM1	9	138011358	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	6410782	138011358	3202073	324	79146											
MAMDC4	158056	broad.mit.edu	37	chr9	139748065	139748065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccctgcgctcgccaaccCtgcgagaggcagcctcctct	10	19	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr9:139748065C>T	uc004cjs.2	+	4	447	c.397C>T	c.(397-399)CTG>TTG	p.L133L	MAMDC4_uc011mej.1_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	133	Extracellular (Potential).|MAM 1.				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTCGCCAACCCTGCGAGAGGC	0.682													T	139748065	C	T	139748065	2	4	136	1	0	0	0	0	0	0	0	1	9204	680	24	4		4	MAMDC4	9	139748065	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	1736707	139748065	1465366	325	79147											
DIP2C	22982	broad.mit.edu	37	chr10	408454	408454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttctgtcgaggcttagGcaagtttgtgacgcaggtgt	14	8	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr10:408454G>A	uc001ifp.2	-	22	2860	c.2770C>T	c.(2770-2772)CCT>TCT	p.P924S	DIP2C_uc009xhi.1_Missense_Mutation_p.P310S|DIP2C_uc010pzz.1_Missense_Mutation_p.P245S	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	924						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGAGGCTTAGGCAAGTTTGTG	0.567													A	408454	G	A	408454	3	1	136	1	0	0	0	0	1	0	0	0	4529	1203	42	2	1964	2	DIP2C	10	408454	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08		408454	135126293	326	79148											
UPF2	26019	broad.mit.edu	37	chr10	12077149	12077149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgatgtttctttttttcttCctcttcttttttctttgatt	3	7	5	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr10:12077149C>T	uc001ila.2	-	1	748	c.274G>A	c.(274-276)GAA>AAA	p.E92K	UPF2_uc001ilb.2_Missense_Mutation_p.E92K|UPF2_uc001ilc.2_Missense_Mutation_p.E92K|UPF2_uc009xiz.1_Missense_Mutation_p.E92K	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	92	Potential.|Glu/Lys-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				tttttttcttcctcttctttt	0.308													T	12077149	C	T	12077149	3	4	136	1	0	0	0	0	1	0	0	0	17001	864	30	4	3628	4	UPF2	10	12077149	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	11668695	12077149	123457598	327	79149											
NMT2	9397	broad.mit.edu	37	chr10	15174868	15174868	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acttatgaacccgaccagttTtttatttgaagacactctga	6	9	1	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr10:15174868T>G	uc001inz.1	-	6	751	c.667A>C	c.(667-669)AAA>CAA	p.K223Q	NMT2_uc001ioa.1_Missense_Mutation_p.K210Q|NMT2_uc009xjo.1_Missense_Mutation_p.K223Q|NMT2_uc010qbz.1_Missense_Mutation_p.K35Q	NM_004808	NP_004799	O60551	NMT2_HUMAN	N-myristoyltransferase 2	223					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			ovary(1)	1						CCGACCAGTTTTTTATTTGAA	0.468													G	15174868	T	G	15174868	3	3	136	1	0	0	0	0	1	0	0	0	10504	1850	64	5	857	5	NMT2	10	15174868	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	3097719	15174868	120359879	328	79150											
ITGA8	8516	broad.mit.edu	37	chr10	15639293	15639293	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactcacagctcagtggtcgAaatccctacaattgcaaaga	7	11	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr10:15639293A>G	uc001ioc.1	-	21	2124	c.2124T>C	c.(2122-2124)TTT>TTC	p.F708F	ITGA8_uc010qcb.1_Silent_p.F693F	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	708	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						TCAGTGGTCGAAATCCCTACA	0.502													G	15639293	A	G	15639293	2	3	136	1	0	0	0	0	0	0	0	1	7882	243	9	3		3	ITGA8	10	15639293	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	464425	15639293	119895454	329	79151											
MASTL	84930	broad.mit.edu	37	chr10	27470425	27470425	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagatatcccttggccagaAggtgaagaaaagttatctga	10	6	1	5			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr10:27470425A>C	uc001itm.2	+	11	3036	c.2397A>C	c.(2395-2397)GAA>GAC	p.E799D	MASTL_uc001itl.2_Missense_Mutation_p.E798D|MASTL_uc009xkw.1_Missense_Mutation_p.E760D|MASTL_uc009xkx.1_RNA	NM_032844	NP_116233	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine	799	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						CTTGGCCAGAAGGTGAAGAAA	0.294													C	27470425	A	C	27470425	3	2	136	1	0	0	0	0	1	0	0	0	9328	69	3	5	2439	5	MASTL	10	27470425	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	11831132	27470425	108064322	330	79152											
ERCC6	2074	broad.mit.edu	37	chr10	50678377	50678377	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acttggcgtctctgcaatgcTtagagttcttaggcttttgc	10	9	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr10:50678377T>G	uc001jhs.3	-	18	3783	c.3629A>C	c.(3628-3630)AAG>ACG	p.K1210T	ERCC6_uc009xod.2_Missense_Mutation_p.K370T|ERCC6_uc010qgr.1_Missense_Mutation_p.K580T|ERCC6_uc001jhr.3_Missense_Mutation_p.K578T	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	1210					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						TCTGCAATGCTTAGAGTTCTT	0.423								Direct_reversal_of_damage|NER					G	50678377	T	G	50678377	3	3	136	1	0	0	0	0	1	0	0	0	5217	1609	56	5	868	5	ERCC6	10	50678377	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	23207952	50678377	84856370	331	79153											
ANK3	288	broad.mit.edu	37	chr10	61828586	61828586	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcggactgcatcttttttTcttcttcagagaggcggtcc	9	11	4	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr10:61828586T>C	uc001jky.2	-	37	12245	c.12053A>G	c.(12052-12054)GAA>GGA	p.E4018G	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	4018					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CATCTTTTTTTCTTCTTCAGA	0.458													C	61828586	T	C	61828586	3	2	136	1	0	0	0	0	1	0	0	0	622	1783	62	3	1421	3	ANK3	10	61828586	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	11150209	61828586	73706161	332	79154											
PCBD1	5092	broad.mit.edu	37	chr10	72644971	72644971	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcctgcagggccactcTtgtcatgaacccaaaggcct	9	15	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr10:72644971T>G	uc001jrn.1	-	3	405	c.154A>C	c.(154-156)AGA>CGA	p.R52R		NM_000281	NP_000272	P61457	PHS_HUMAN	pterin-4 alpha-carbinolamine	52					L-phenylalanine catabolic process|regulation of transcription, DNA-dependent|tetrahydrobiopterin biosynthetic process|transcription, DNA-dependent	cytosol|nucleus	4-alpha-hydroxytetrahydrobiopterin dehydratase activity|identical protein binding|transcription coactivator activity				0						AGGGCCACTCTTGTCATGAAC	0.507													G	72644971	T	G	72644971	2	3	136	1	0	0	0	0	0	0	0	1	11498	1617	56	5		5	PCBD1	10	72644971	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	10816385	72644971	62889776	333	79155											
CDHR1	92211	broad.mit.edu	37	chr10	85955269	85955269	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaggccaacttcgccccGcacttcttcgacaacggggt	10	16	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr10:85955269G>A	uc001kcv.2	+	2	75	c.75G>A	c.(73-75)CCG>CCA	p.P25P	CDHR1_uc001kcw.2_Silent_p.P25P	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	25	Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						ACTTCGCCCCGCACTTCTTCG	0.612													A	85955269	G	A	85955269	2	1	136	1	0	0	0	0	0	0	0	1	3118	1074	38	1		1	CDHR1	10	85955269	Silent	SNP	G	TCGA-CD-5801-01A-11D-1600-08	13310298	85955269	49579478	334	79156											
GRID1	2894	broad.mit.edu	37	chr10	87628808	87628808	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgggggtcgcagagcaGggaggagatgcggtggttgt	20	6	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr10:87628808G>T	uc001kdl.1	-	6	1011	c.910C>A	c.(910-912)CTG>ATG	p.L304M	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	304	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	TCGCAGAGCAGGGAGGAGATG	0.577										Multiple Myeloma(13;0.14)			T	87628808	G	T	87628808	3	4	136	1	0	0	0	0	1	0	0	0	6771	991	35	5	2163	5	GRID1	10	87628808	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	1673539	87628808	47905939	335	79157											
TCTN3	26123	broad.mit.edu	37	chr10	97440352	97440352	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actggtatgagacagcaggaAgtacagtttatagcctgcag	12	7	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr10:97440352A>C	uc001klb.3	-	13	1711	c.1467T>G	c.(1465-1467)ACT>ACG	p.T489T	TCTN3_uc001kla.3_Silent_p.T333T|TCTN3_uc010qoi.1_Silent_p.T341T	NM_015631	NP_056446	Q6NUS6	TECT3_HUMAN	tectonic 3 isoform a precursor	489	Extracellular (Potential).				apoptosis	integral to membrane					0		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		GACAGCAGGAAGTACAGTTTA	0.458													C	97440352	A	C	97440352	2	2	136	1	0	0	0	0	0	0	0	1	15721	59	3	5		5	TCTN3	10	97440352	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	9811544	97440352	38094395	336	79158											
ZNF518A	9849	broad.mit.edu	37	chr10	97919522	97919522	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaatattgctgaaaatttTtaaccctgttttaaatgtga	6	4	0	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr10:97919522T>G	uc001klp.2	+	6	4300	c.3443T>G	c.(3442-3444)TTT>TGT	p.F1148C	ZNF518A_uc001klo.1_Missense_Mutation_p.F618C|ZNF518A_uc001klq.2_Missense_Mutation_p.F1148C|ZNF518A_uc001klr.2_Missense_Mutation_p.F1148C	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	1148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CTGAAAATTTTTAACCCTGTT	0.353													G	97919522	T	G	97919522	3	3	136	1	0	0	0	0	1	0	0	0	17959	1841	64	5	3445	5	ZNF518A	10	97919522	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	479170	97919522	37615225	337	79159											
C10orf28	27291	broad.mit.edu	37	chr10	99968636	99968636	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcatgcaaacatcagatggAatattgaatcccagcagcgg	10	9	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr10:99968636A>C	uc001kow.3	+	4	1060	c.765A>C	c.(763-765)GGA>GGC	p.G255G	C10orf28_uc001kox.3_Silent_p.G255G|C10orf28_uc001koy.3_Silent_p.G255G|C10orf28_uc009xvx.2_Silent_p.G255G|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	255							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		CATCAGATGGAATATTGAATC	0.393													C	99968636	A	C	99968636	2	2	136	1	0	0	0	0	0	0	0	1	1601	233	9	5		5	C10orf28	10	99968636	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	2049114	99968636	35566111	338	79160											
GSTO2	119391	broad.mit.edu	37	chr10	106058933	106058933	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctggatatcagccatgaAgtgggaccccacagtctgtg	12	11	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr10:106058933A>C	uc001kyb.2	+	7	1251	c.623A>C	c.(622-624)AAG>ACG	p.K208T	GSTO2_uc010qqx.1_Missense_Mutation_p.K174T|GSTO2_uc001kyc.2_Missense_Mutation_p.K180T|GSTO2_uc010qqy.1_Missense_Mutation_p.E110D	NM_183239	NP_899062	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	208	GST C-terminal.				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TCAGCCATGAAGTGGGACCCC	0.517													C	106058933	A	C	106058933	3	2	136	1	0	0	0	0	1	0	0	0	6843	72	3	5	645	5	GSTO2	10	106058933	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	6090297	106058933	29475814	339	79161											
TCF7L2	6934	broad.mit.edu	37	chr10	114710655	114710655	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttagctgatgtcaaatcgtCtctagtcaatgaatcagaaa	7	7	4	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr10:114710655C>T	uc001lae.3	+	1	647	c.140C>T	c.(139-141)TCT>TTT	p.S47F	TCF7L2_uc001lac.3_Missense_Mutation_p.S47F|TCF7L2_uc010qrk.1_Missense_Mutation_p.S47F|TCF7L2_uc010qrl.1_Missense_Mutation_p.S47F|TCF7L2_uc010qrm.1_Missense_Mutation_p.S47F|TCF7L2_uc010qrn.1_Missense_Mutation_p.S47F|TCF7L2_uc001lad.3_Missense_Mutation_p.S47F|TCF7L2_uc001lag.3_Missense_Mutation_p.S47F|TCF7L2_uc001laf.3_Missense_Mutation_p.S47F|TCF7L2_uc010qro.1_Missense_Mutation_p.S47F|TCF7L2_uc001lah.2_Missense_Mutation_p.S47F|TCF7L2_uc010qrp.1_Missense_Mutation_p.S47F|TCF7L2_uc010qrq.1_Missense_Mutation_p.S47F|TCF7L2_uc010qrr.1_5'Flank|TCF7L2_uc010qrs.1_5'Flank|TCF7L2_uc010qrt.1_5'Flank	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	47	CTNNB1-binding (By similarity).				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GTCAAATCGTCTCTAGTCAAT	0.498													T	114710655	C	T	114710655	3	4	136	1	0	0	0	0	1	0	0	0	15695	913	32	4	142	4	TCF7L2	10	114710655	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	8651722	114710655	20824092	340	79162											
NHLRC2	374354	broad.mit.edu	37	chr10	115636359	115636359	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacattaagagtgctgttctTcgatacaacatcacccaccc	5	13	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr10:115636359T>G	uc001lax.1	+	3	623	c.411T>G	c.(409-411)CTT>CTG	p.L137L		NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	137	Thioredoxin.				cell redox homeostasis					ovary(1)	1				Epithelial(162;0.017)|all cancers(201;0.0187)		GTGCTGTTCTTCGATACAACA	0.403													G	115636359	T	G	115636359	2	3	136	1	0	0	0	0	0	0	0	1	10406	1770	62	5		5	NHLRC2	10	115636359	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	925704	115636359	19898388	341	79163											
ADRB1	153	broad.mit.edu	37	chr10	115804230	115804230	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggggctgctggtggtgccGttcggggccaccatcgtggt	18	10	0	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr10:115804230G>A	uc001lba.2	+	1	425	c.339G>A	c.(337-339)CCG>CCA	p.P113P		NM_000684	NP_000675	P08588	ADRB1_HUMAN	beta-1-adrenergic receptor	113	Helical; Name=2; (By similarity).				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	TGGTGGTGCCGTTCGGGGCCA	0.667													A	115804230	G	A	115804230	2	1	136	1	0	0	0	0	0	0	0	1	340	1132	40	1		1	ADRB1	10	115804230	Silent	SNP	G	TCGA-CD-5801-01A-11D-1600-08	167871	115804230	19730517	342	79164											
PRAP1	118471	broad.mit.edu	37	chr10	135165920	135165920	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaccggaggaagaccaAgaccacatctaccaccccca	9	16	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr10:135165920A>G	uc001lmp.2	+	5	510	c.432A>G	c.(430-432)CAA>CAG	p.Q144Q	PRAP1_uc001lmr.2_Silent_p.Q135Q|PRAP1_uc001lmq.1_Silent_p.Q116Q	NM_145202	NP_660203	Q96NZ9	PRAP1_HUMAN	proline-rich acidic protein 1 isoform 1	144						extracellular region					0		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.08e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.88e-06)|Epithelial(32;9.48e-06)		AGGAAGACCAAGACCACATCT	0.672													G	135165920	A	G	135165920	2	3	136	1	0	0	0	0	0	0	0	1	12441	69	3	3		3	PRAP1	10	135165920	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	19361690	135165920	368827	343	79165											
OR51A7	119687	broad.mit.edu	37	chr11	4928908	4928908	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgctttgctcaagaattcttCattcatggattcactgtcat	6	9	6	1	rs142232152	byFrequency	TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:4928908C>A	uc010qyq.1	+	1	309	c.309C>A	c.(307-309)TTC>TTA	p.F103L		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A,	103	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGAATTCTTCATTCATGGAT	0.438													A	4928908	C	A	4928908	3	1	136	1	0	0	0	0	1	0	0	0	11088	825	29	5	311	5	OR51A7	11	4928908	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08		4928908	130077608	344	79166											
UBQLNL	143630	broad.mit.edu	37	chr11	5536993	5536993	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agcaaggttcctggccagctCcagagtctgcaataggatct	11	11	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:5536993C>A	uc001maz.3	-	1	964	c.679G>T	c.(679-681)GAG>TAG	p.E227*	HBG2_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	227										large_intestine(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CTGGCCAGCTCCAGAGTCTGC	0.453													A	5536993	C	A	5536993	4	1	136	1	0	0	0	0	0	1	0	0	16897	864	30	5	752	5	UBQLNL	11	5536993	Nonsense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	608085	5536993	129469523	345	79167											
DNHD1	144132	broad.mit.edu	37	chr11	6588890	6588890	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcgttctgcgacctgagTgcctggcaggtgccctggca	16	13	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:6588890T>C	uc001mdw.3	+	36	12715	c.12151T>C	c.(12151-12153)TGC>CGC	p.C4051R	DNHD1_uc001mea.3_Missense_Mutation_p.C320R|DNHD1_uc001meb.2_Missense_Mutation_p.C319R|DNHD1_uc001mec.2_Missense_Mutation_p.C319R|DNHD1_uc010rao.1_Missense_Mutation_p.C309R|DNHD1_uc009yfg.2_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	4051					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCGACCTGAGTGCCTGGCAGG	0.612													C	6588890	T	C	6588890	3	2	136	1	0	0	0	0	1	0	0	0	4668	1696	59	3	12294	3	DNHD1	11	6588890	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1051897	6588890	128417626	346	79168											
ST5	6764	broad.mit.edu	37	chr11	8732693	8732693	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatactctgacacaggaagcCagtccttggcatcagggaag	11	10	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:8732693C>T	uc001mgt.2	-	10	2444	c.2258G>A	c.(2257-2259)TGG>TAG	p.W753*	ST5_uc009yfr.2_Nonsense_Mutation_p.W333*|ST5_uc001mgu.2_Nonsense_Mutation_p.W333*|ST5_uc001mgv.2_Nonsense_Mutation_p.W753*|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Nonsense_Mutation_p.W266*|ST5_uc009yfs.2_RNA	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	753	UDENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CACAGGAAGCCAGTCCTTGGC	0.592													T	8732693	C	T	8732693	4	4	136	1	0	0	0	0	0	1	0	0	15219	595	21	4	1199	4	ST5	11	8732693	Nonsense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	2143803	8732693	126273823	347	79169											
MICAL2	9645	broad.mit.edu	37	chr11	12262590	12262590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctttcttctcccaggaaCgccgtgtctcagggataggt	11	13	3	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:12262590C>T	uc001mjz.2	+	18	2506	c.2218C>T	c.(2218-2220)CGC>TGC	p.R740C	MICAL2_uc010rch.1_Intron|MICAL2_uc001mka.2_Missense_Mutation_p.R740C|MICAL2_uc010rci.1_Missense_Mutation_p.R740C|MICAL2_uc001mkb.2_Intron|MICAL2_uc001mkc.2_Intron|MICAL2_uc001mkd.2_Intron|MICAL2_uc010rcj.1_Intron|MICAL2_uc001mkf.2_RNA	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	740						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		CTCCCAGGAACGCCGTGTCTC	0.577													T	12262590	C	T	12262590	3	4	136	1	0	0	0	0	1	0	0	0	9570	536	19	1	2280	1	MICAL2	11	12262590	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	3529897	12262590	122743926	348	79170											
MICALCL	84953	broad.mit.edu	37	chr11	12345546	12345546	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagaagacacttagaagaAgaaagaagctagaaaaagca	10	4	0	8			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:12345546A>C	uc001mkg.1	+	5	1855	c.1564A>C	c.(1564-1566)AGA>CGA	p.R522R		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	522	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)		ACTTAGAAGAAGAAAGAAGCT	0.338													C	12345546	A	C	12345546	2	2	136	1	0	0	0	0	0	0	0	1	9572	64	3	5		5	MICALCL	11	12345546	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	82956	12345546	122660970	349	79171											
SAAL1	113174	broad.mit.edu	37	chr11	18124847	18124847	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcaagctccgtcagcTgctcctcatcatctgagcta	6	15	6	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:18124847T>C	uc001mnq.2	-	2	232	c.182A>G	c.(181-183)CAG>CGG	p.Q61R	SAAL1_uc001mnr.2_Missense_Mutation_p.Q61R|SAAL1_uc001mns.2_RNA|SAAL1_uc009yhf.2_Missense_Mutation_p.Q61R	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	61					acute-phase response	extracellular region	binding				0						CTCCGTCAGCTGCTCCTCATC	0.388													C	18124847	T	C	18124847	3	2	136	1	0	0	0	0	1	0	0	0	13801	1580	55	3	1286	3	SAAL1	11	18124847	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	5779301	18124847	116881669	350	79172											
PRMT3	10196	broad.mit.edu	37	chr11	20473684	20473684	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttttatgcagggctatttTcttctgtttgagtctatgtt	8	5	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:20473684T>A	uc001mqb.2	+	11	1219	c.1002T>A	c.(1000-1002)TTT>TTA	p.F334L	PRMT3_uc001mqc.2_Missense_Mutation_p.F257L|PRMT3_uc010rdn.1_Missense_Mutation_p.F272L	NM_005788	NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3 isoform 1	334							zinc ion binding				0						AGGGCTATTTTCTTCTGTTTG	0.338													A	20473684	T	A	20473684	3	1	136	1	0	0	0	0	1	0	0	0	12538	1780	62	5	1044	5	PRMT3	11	20473684	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	2348837	20473684	114532832	351	79173											
ANO5	203859	broad.mit.edu	37	chr11	22301112	22301112	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtgtttttagttaaatTtttgctggcctggatgatac	10	4	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:22301112T>G	uc001mqi.2	+	22	2860	c.2543T>G	c.(2542-2544)TTT>TGT	p.F848C	ANO5_uc001mqj.2_Missense_Mutation_p.F847C	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	848	Helical; (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						TTAGTTAAATTTTTGCTGGCC	0.363													G	22301112	T	G	22301112	3	3	136	1	0	0	0	0	1	0	0	0	700	1841	64	5	2629	5	ANO5	11	22301112	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1827428	22301112	112705404	352	79174											
PAMR1	25891	broad.mit.edu	37	chr11	35454104	35454104	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagatatcagaaggggcagTgggttcccagctggcacaga	15	9	1	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:35454104T>G	uc001mwg.2	-	11	2006	c.1963A>C	c.(1963-1965)ACT>CCT	p.T655P	PAMR1_uc001mwf.2_Missense_Mutation_p.T672P|PAMR1_uc010rew.1_Missense_Mutation_p.T544P|PAMR1_uc010rex.1_Missense_Mutation_p.T615P	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	655	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						GAAGGGGCAGTGGGTTCCCAG	0.587													G	35454104	T	G	35454104	3	3	136	1	0	0	0	0	1	0	0	0	11413	1696	59	5	203	5	PAMR1	11	35454104	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	13152992	35454104	99552412	353	79175											
OR5T3	390154	broad.mit.edu	37	chr11	56019824	56019824	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgacaggcttcacagatgAttttgagctgcaagtcttcc	9	9	2	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:56019824A>C	uc010rjd.1	+	1	149	c.149A>C	c.(148-150)GAT>GCT	p.D50A		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	50	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					TTCACAGATGATTTTGAGCTG	0.378													C	56019824	A	C	56019824	3	2	136	1	0	0	0	0	1	0	0	0	11183	333	12	5	151	5	OR5T3	11	56019824	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	20565720	56019824	78986692	354	79176											
GLYAT	10249	broad.mit.edu	37	chr11	58480280	58480280	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgagttctggtgatccaAggaattcctgacagttttgg	12	6	1	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:58480280A>G	uc001nnb.2	-	4	424	c.269T>C	c.(268-270)CTT>CCT	p.L90P	GLYAT_uc001nnc.2_Missense_Mutation_p.L90P	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase isoform a	90					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity				0		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TGGTGATCCAAGGAATTCCTG	0.398													G	58480280	A	G	58480280	3	3	136	1	0	0	0	0	1	0	0	0	6479	72	3	3	637	3	GLYAT	11	58480280	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	2460456	58480280	76526236	355	79177											
GLYATL1	92292	broad.mit.edu	37	chr11	58723472	58723472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtggcaccaatggacttGctacccacagaatctagttc	9	11	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:58723472G>A	uc001nnf.2	+	8	1257	c.881G>A	c.(880-882)TGC>TAC	p.C294Y	uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.C325Y|GLYATL1_uc001nni.1_Missense_Mutation_p.C294Y|GLYATL1_uc001nnj.1_Missense_Mutation_p.C294Y			Q969I3	GLYL1_HUMAN	SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	294						mitochondrion	glycine N-acyltransferase activity			ovary(1)	1					Glycine(DB00145)	CAATGGACTTGCTACCCACAG	0.423													A	58723472	G	A	58723472	3	1	136	1	0	0	0	0	1	0	0	0	6480	1319	46	2	1000	2	GLYATL1	11	58723472	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	243192	58723472	76283044	356	79178											
OR5A1	219982	broad.mit.edu	37	chr11	59211523	59211523	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaccctctcatttacagTttgaggaacaaagagatcaa	7	9	2	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:59211523T>C	uc001nnx.1	+	1	882	c.882T>C	c.(880-882)AGT>AGC	p.S294S		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	294	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2						TCATTTACAGTTTGAGGAACA	0.453													C	59211523	T	C	59211523	2	2	136	1	0	0	0	0	0	0	0	1	11139	1722	60	3		3	OR5A1	11	59211523	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	488051	59211523	75794993	357	79179											
RAB3IL1	5866	broad.mit.edu	37	chr11	61675527	61675527	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctactgcaggcacccaccTtctgcgctctgtgcagctcc	9	18	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:61675527T>G	uc001nso.2	-	2	421	c.263A>C	c.(262-264)AAG>ACG	p.K88T	RAB3IL1_uc001nsp.2_Missense_Mutation_p.K135T	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	88	Potential.						protein binding			skin(2)|central_nervous_system(1)	3						GGCACCCACCTTCTGCGCTCT	0.637													G	61675527	T	G	61675527	3	3	136	1	0	0	0	0	1	0	0	0	12937	1623	56	5	921	5	RAB3IL1	11	61675527	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	2464004	61675527	73330989	358	79180											
AHNAK	79026	broad.mit.edu	37	chr11	62289401	62289401	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttggggcccttgatgtcaActtcagggcccttgaggtcg	13	11	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:62289401A>C	uc001ntl.2	-	5	12788	c.12488T>G	c.(12487-12489)GTT>GGT	p.V4163G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4163					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CTTGATGTCAACTTCAGGGCC	0.507													C	62289401	A	C	62289401	3	2	136	1	0	0	0	0	1	0	0	0	414	43	2	5	5304	5	AHNAK	11	62289401	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	613874	62289401	72717115	359	79181											
AHNAK	79026	broad.mit.edu	37	chr11	62298592	62298592	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggacctctgatgtccacatcTggaacctgcatttcaccctc	7	15	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:62298592T>A	uc001ntl.2	-	5	3597	c.3297A>T	c.(3295-3297)CCA>CCT	p.P1099P	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1099					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TGTCCACATCTGGAACCTGCA	0.453													A	62298592	T	A	62298592	2	1	136	1	0	0	0	0	0	0	0	1	414	1567	55	5		5	AHNAK	11	62298592	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	9191	62298592	72707924	360	79182											
EML3	256364	broad.mit.edu	37	chr11	62376884	62376884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcagctcctcaaggctgcGgatgccagacgggatgtaca	14	12	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:62376884G>A	uc001ntu.1	-	6	1008	c.700C>T	c.(700-702)CGC>TGC	p.R234C	EML3_uc001ntr.1_Missense_Mutation_p.R206C|EML3_uc001nts.1_Missense_Mutation_p.R206C|EML3_uc001ntt.1_Missense_Mutation_p.R118C|EML3_uc010rly.1_Missense_Mutation_p.R234C|EML3_uc009yny.1_Missense_Mutation_p.R17C	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	234						cytoplasm|microtubule	protein binding			ovary(1)	1						TCAAGGCTGCGGATGCCAGAC	0.577													A	62376884	G	A	62376884	3	1	136	1	0	0	0	0	1	0	0	0	5098	1116	39	1	2058	1	EML3	11	62376884	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	78292	62376884	72629632	361	79183											
RTN3	10313	broad.mit.edu	37	chr11	63521149	63521149	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacagctgaactgctcatttTcagtgtcccgattgtctatg	8	10	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:63521149T>G	uc001nxq.2	+	7	3150	c.2963T>G	c.(2962-2964)TTC>TGC	p.F988C	RTN3_uc001nxo.2_Missense_Mutation_p.F192C|RTN3_uc001nxm.2_Missense_Mutation_p.F211C|RTN3_uc001nxn.2_Missense_Mutation_p.F969C|RTN3_uc001nxp.2_Missense_Mutation_p.F192C|RTN3_uc009yov.2_Missense_Mutation_p.F876C|RTN3_uc010rmt.1_RNA|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	988	Helical; (Potential).|Interaction with FADD.|Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1						CTGCTCATTTTCAGTGTCCCG	0.378													G	63521149	T	G	63521149	3	3	136	1	0	0	0	0	1	0	0	0	13727	1783	62	5	2989	5	RTN3	11	63521149	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1144265	63521149	71485367	362	79184											
SF1	7536	broad.mit.edu	37	chr11	64536752	64536752	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaactcccgaagctgcatcTtccgtagatcattctggtcc	7	15	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:64536752T>G	uc001obb.1	-	7	1099	c.722A>C	c.(721-723)AAG>ACG	p.K241T	SF1_uc010rnm.1_5'Flank|SF1_uc010rnn.1_Missense_Mutation_p.K215T|SF1_uc001oaz.1_Missense_Mutation_p.K366T|SF1_uc001oba.1_Missense_Mutation_p.K241T|SF1_uc001obc.1_Missense_Mutation_p.K241T|SF1_uc001obd.1_Missense_Mutation_p.K241T|SF1_uc001obe.1_Missense_Mutation_p.K126T|SF1_uc010rno.1_Missense_Mutation_p.K126T	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	241					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3						AAGCTGCATCTTCCGTAGATC	0.473													G	64536752	T	G	64536752	3	3	136	1	0	0	0	0	1	0	0	0	14145	1609	56	5	1363	5	SF1	11	64536752	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1015603	64536752	70469764	363	79185											
PPP2R5B	5526	broad.mit.edu	37	chr11	64694201	64694201	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgtgccggcttccgagCtgcacgagctgctgagccgg	15	13	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:64694201C>T	uc001oby.2	+	3	802	c.217C>T	c.(217-219)CTG>TTG	p.L73L	PPP2R5B_uc001obz.2_Silent_p.L73L	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	73					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2						GGCTTCCGAGCTGCACGAGCT	0.662													T	64694201	C	T	64694201	2	4	136	1	0	0	0	0	0	0	0	1	12393	796	28	2		2	PPP2R5B	11	64694201	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	157449	64694201	70312315	364	79186											
B3GNT1	11041	broad.mit.edu	37	chr11	66113606	66113606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttattgtgctgattttcagCctccttttggggatggaact	10	8	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:66113606C>T	uc001ohr.2	-	2	1307	c.1162G>A	c.(1162-1164)GCT>ACT	p.A388T	BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank	NM_006876	NP_006867	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal	388	Lumenal (Potential).				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity				0						TGATTTTCAGCCTCCTTTTGG	0.512													T	66113606	C	T	66113606	3	4	136	1	0	0	0	0	1	0	0	0	1256	739	26	2	89	2	B3GNT1	11	66113606	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	1419405	66113606	68892910	365	79187											
PC	5091	broad.mit.edu	37	chr11	66617526	66617526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcttcggcctctgcccggCtcaatccattctgcaccata	8	16	3	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:66617526C>T	uc001ojn.1	-	18	2829	c.2780G>A	c.(2779-2781)AGC>AAC	p.S927N	PC_uc001ojo.1_Missense_Mutation_p.S927N|PC_uc001ojp.1_Missense_Mutation_p.S927N|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	927					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CTCTGCCCGGCTCAATCCATT	0.642													T	66617526	C	T	66617526	3	4	136	1	0	0	0	0	1	0	0	0	11497	797	28	2	772	2	PC	11	66617526	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	503920	66617526	68388990	366	79188											
KRTAP5-8	57830	broad.mit.edu	37	chr11	71249236	71249236	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgtgtgccagcctgTtcctgctccagctgtggctc	12	14	0	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:71249236T>G	uc001oqr.1	+	1	166	c.135T>G	c.(133-135)TGT>TGG	p.C45W		NM_021046	NP_066384	O75690	KRA58_HUMAN	keratin associated protein 5-8	45	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis				0						TGCCAGCCTGTTCCTGCTCCA	0.692													G	71249236	T	G	71249236	3	3	136	1	0	0	0	0	1	0	0	0	8567	1731	60	5	137	5	KRTAP5-8	11	71249236	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	4631710	71249236	63757280	367	79189											
KRTAP5-9	3846	broad.mit.edu	37	chr11	71259851	71259851	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agcccgtgtgctgctgtgttCcagcctgttcctgctctagc	11	14	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:71259851C>A	uc001oqs.1	+	1	386	c.148C>A	c.(148-150)CCA>ACA	p.P50T		NM_005553	NP_005544	P26371	KRA59_HUMAN	keratin associated protein 5-9	50	3.|8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament					0						CTGCTGTGTTCCAGCCTGTTC	0.647													A	71259851	C	A	71259851	3	1	136	1	0	0	0	0	1	0	0	0	8568	855	30	5	150	5	KRTAP5-9	11	71259851	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	10615	71259851	63746665	368	79190											
INPPL1	3636	broad.mit.edu	37	chr11	71939801	71939801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaagcccccgctgccccCgcgctctggctccaccagca	10	20	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:71939801C>T	uc001osf.2	+	4	575	c.428C>T	c.(427-429)CCG>CTG	p.P143L	INPPL1_uc001osg.2_5'UTR	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	143					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						CCGCTGCCCCCGCGCTCTGGC	0.672													T	71939801	C	T	71939801	3	4	136	1	0	0	0	0	1	0	0	0	7761	652	23	1	442	1	INPPL1	11	71939801	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	679950	71939801	63066715	369	79191											
RAB6A	5870	broad.mit.edu	37	chr11	73388969	73388978	+	Frame_Shift_Del	DEL	CTGGTTGCTC	CTGGTTGCTC	-													ggaacagcctccttcactgaCtggttgctcctgaggctttt							TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:73388968_73388977ACTGGTTGCTC>A	uc001ouf.3	-	7	1114_1123	c.593_602GAGCAACCAGT>T	c.(592-603)gagcaaccagtcfs	p.E198fs	RAB6A_uc021qnd.1_Frame_Shift_Del_p.E165fs|RAB6A_uc001oue.3_Frame_Shift_Del_p.E198fs|RAB6A_uc009yts.3_Frame_Shift_Del_p.E94fs	NM_198896	NP_942599	P20340	RAB6A_HUMAN	Homo sapiens RAB6A, member RAS oncogene family (RAB6A), transcript variant 2, mRNA.	198					minus-end-directed organelle transport along microtubule|peptidyl-cysteine methylation|protein targeting to Golgi|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	Golgi membrane|cytoplasmic vesicle|cytosol|trans-Golgi network	GTP binding|GTPase activity|protein domain specific binding			large_intestine(2)|lung(2)	4						TCCTTCACTGACTGGTTGCTCCTGAGGCTT	0.424													-	73388978	CTGGTTGCTC	-	73388969	7	5	136	1	0	1	0	1	0	0	0	0	12951	565	20	0	29	0	RAB6A	11	73388969	Frame_Shift_Del	DEL	CTGGTTGCTC	TCGA-CD-5801-01A-11D-1600-08	1449168	73388969	61617547	370	79192											
KCTD14	65987	broad.mit.edu	37	chr11	77727862	77727862	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacacaggacctctgaaTaatatgcatcctgctcctca	6	12	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:77727862T>C	uc001oyw.3	-	2	570	c.545A>G	c.(544-546)TAT>TGT	p.Y182C		NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	potassium channel tetramerisation domain	182						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			GACCTCTGAATAATATGCATC	0.532													C	77727862	T	C	77727862	3	2	136	1	0	0	0	0	1	0	0	0	8101	1406	49	3	226	3	KCTD14	11	77727862	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	4338893	77727862	57278654	371	79193											
NOX4	50507	broad.mit.edu	37	chr11	89073338	89073338	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttgtatggtttccagtcatCcctttaaaatgaaaataaca	5	8	1	1	rs55696571		TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:89073338C>A	uc001pct.2	-	15	1578	c.1339G>T	c.(1339-1341)GAT>TAT	p.D447Y	NOX4_uc009yvr.2_Missense_Mutation_p.D422Y|NOX4_uc001pcu.2_Missense_Mutation_p.D373Y|NOX4_uc001pcw.2_Missense_Mutation_p.D140Y|NOX4_uc001pcx.2_Missense_Mutation_p.D100Y|NOX4_uc001pcv.2_Missense_Mutation_p.D407Y|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.D281Y|NOX4_uc009yvp.2_Missense_Mutation_p.D211Y|NOX4_uc010rtv.1_Missense_Mutation_p.D383Y|NOX4_uc009yvq.2_Missense_Mutation_p.D423Y	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a	447	Cytoplasmic (Potential).|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TTCCAGTCATCCCTTTAAAAT	0.328													A	89073338	C	A	89073338	3	1	136	1	0	0	0	0	1	0	0	0	10558	869	30	5	413	5	NOX4	11	89073338	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	11345476	89073338	45933178	372	79194											
AMOTL1	154810	broad.mit.edu	37	chr11	94528193	94528193	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtccccttctgcttgTtatagccccagtagtcctgt	9	14	1	0	rs138638061	by1000genomes	TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:94528193T>C	uc001pfb.2	+	2	236	c.66T>C	c.(64-66)TGT>TGC	p.C22C	AMOTL1_uc001pfc.2_Intron	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	22						cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CTTCTGCTTGTTATAGCCCCA	0.507													C	94528193	T	C	94528193	2	2	136	1	0	0	0	0	0	0	0	1	583	1731	60	3		3	AMOTL1	11	94528193	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	5454855	94528193	40478323	373	79195											
FAM76B	143684	broad.mit.edu	37	chr11	95516419	95516419	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagagccagcataataactTtccatcaaccttttaagaaa	4	10	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:95516419T>G	uc001pfn.2	-	5	685	c.373A>C	c.(373-375)AAG>CAG	p.K125Q	FAM76B_uc001pfm.2_RNA	NM_144664	NP_653265	Q5HYJ3	FA76B_HUMAN	hypothetical protein LOC143684	125											0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CATAATAACTTTCCATCAACC	0.348													G	95516419	T	G	95516419	3	3	136	1	0	0	0	0	1	0	0	0	5625	1850	64	5	670	5	FAM76B	11	95516419	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	988226	95516419	39490097	374	79196											
JRKL	8690	broad.mit.edu	37	chr11	96125232	96125232	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaatagaactaattccagaGaaacatattaatcatgcagc	6	7	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:96125232G>A	uc009ywu.2	+	2	1671	c.1419G>A	c.(1417-1419)GAG>GAA	p.E473E	CCDC82_uc001pfx.3_5'Flank|CCDC82_uc009ywr.2_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Silent_p.E473E	NM_003772	NP_003763	Q9Y4A0	JERKL_HUMAN	jerky homolog-like	473					central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		TAATTCCAGAGAAACATATTA	0.393													A	96125232	G	A	96125232	2	1	136	1	0	0	0	0	0	0	0	1	7965	933	33	4		4	JRKL	11	96125232	Silent	SNP	G	TCGA-CD-5801-01A-11D-1600-08	608813	96125232	38881284	375	79197											
DYNC2H1	79659	broad.mit.edu	37	chr11	102984309	102984309	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagtgctggtgtttttcaAgctgcgacctgaagtaatta	10	6	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:102984309A>G	uc001pho.2	+	2	383	c.239A>G	c.(238-240)AAG>AGG	p.K80R	DYNC2H1_uc001phn.1_Missense_Mutation_p.K80R|DYNC2H1_uc009yxe.1_Missense_Mutation_p.K80R	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	80	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTGTTTTTCAAGCTGCGACCT	0.303													G	102984309	A	G	102984309	3	3	136	1	0	0	0	0	1	0	0	0	4846	72	3	3	245	3	DYNC2H1	11	102984309	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	6859077	102984309	32022207	376	79198											
DYNC2H1	79659	broad.mit.edu	37	chr11	102984404	102984404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagttctctttaccaagcaGtacggcaagtattcgcacca	7	11	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:102984404G>A	uc001pho.2	+	2	478	c.334G>A	c.(334-336)GTA>ATA	p.V112I	DYNC2H1_uc001phn.1_Missense_Mutation_p.V112I|DYNC2H1_uc009yxe.1_Missense_Mutation_p.V112I	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	112	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTACCAAGCAGTACGGCAAGT	0.328													A	102984404	G	A	102984404	3	1	136	1	0	0	0	0	1	0	0	0	4846	1029	36	4	340	4	DYNC2H1	11	102984404	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	95	102984404	32022112	377	79199											
PDGFD	80310	broad.mit.edu	37	chr11	103814315	103814315	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtatcaaattctgcaatttTtttgtccagagcatccgcaa	6	9	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:103814315T>G	uc001phq.2	-	5	1009	c.637A>C	c.(637-639)AAA>CAA	p.K213Q	PDGFD_uc001php.2_Missense_Mutation_p.K207Q	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	213					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TCTGCAATTTTTTTGTCCAGA	0.433													G	103814315	T	G	103814315	3	3	136	1	0	0	0	0	1	0	0	0	11660	1850	64	5	487	5	PDGFD	11	103814315	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	829911	103814315	31192201	378	79200											
ARHGAP20	57569	broad.mit.edu	37	chr11	110462822	110462822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaggtgagtgctagaacctCgccagaaggcccagtttatg	12	11	0	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:110462822C>T	uc001pkz.1	-	11	1307	c.1022G>A	c.(1021-1023)CGA>CAA	p.R341Q	ARHGAP20_uc001pky.1_Missense_Mutation_p.R318Q|ARHGAP20_uc009yyb.1_Missense_Mutation_p.R305Q|ARHGAP20_uc001pla.1_Missense_Mutation_p.R305Q|ARHGAP20_uc001plb.2_5'Flank	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	341					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GCTAGAACCTCGCCAGAAGGC	0.418													T	110462822	C	T	110462822	3	4	136	1	0	0	0	0	1	0	0	0	870	884	31	1	2577	1	ARHGAP20	11	110462822	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	6648507	110462822	24543694	379	79201											
BCO2	83875	broad.mit.edu	37	chr11	112065392	112065392	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtagattggagcaaatTtattgctgtgaatggagcaa	13	4	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:112065392T>G	uc001pnf.2	+	5	767	c.650T>G	c.(649-651)TTT>TGT	p.F217C	BCO2_uc001pne.1_Missense_Mutation_p.F44C|BCO2_uc001png.2_Intron|BCO2_uc001pnh.2_Missense_Mutation_p.F183C|BCO2_uc010rwt.1_Missense_Mutation_p.F112C|BCO2_uc009yyn.2_Missense_Mutation_p.F183C|BCO2_uc001pni.2_Missense_Mutation_p.F183C	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	217					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						TGGAGCAAATTTATTGCTGTG	0.373													G	112065392	T	G	112065392	3	3	136	1	0	0	0	0	1	0	0	0	1385	1841	64	5	668	5	BCO2	11	112065392	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1602570	112065392	22941124	380	79202											
FAM55D	54827	broad.mit.edu	37	chr11	114453400	114453400	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgaagcacctgccatcAgcgctggggaagacatcctg	11	13	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:114453400A>G	uc001ppc.2	-	3	621	c.440T>C	c.(439-441)CTG>CCG	p.L147P	FAM55D_uc001ppd.2_Intron	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	147						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		ACCTGCCATCAGCGCTGGGGA	0.587													G	114453400	A	G	114453400	3	3	136	1	0	0	0	0	1	0	0	0	5587	188	7	3	1210	3	FAM55D	11	114453400	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	2388008	114453400	20553116	381	79203											
C2CD2L	9854	broad.mit.edu	37	chr11	118981567	118981567	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctgtagttggaagtcaAcctggaggaaatccctggtg	13	8	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:118981567A>C	uc001pvo.2	+	4	940	c.581A>C	c.(580-582)AAC>ACC	p.N194T	DPAGT1_uc010ryz.1_5'Flank|C2CD2L_uc001pvn.2_Missense_Mutation_p.N194T	NM_014807	NP_055622	O14523	C2C2L_HUMAN	transmembrane protein 24	194						integral to membrane					0						TTGGAAGTCAACCTGGAGGAA	0.547													C	118981567	A	C	118981567	3	2	136	1	0	0	0	0	1	0	0	0	2153	43	2	5	595	5	C2CD2L	11	118981567	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	4528167	118981567	16024949	382	79204											
GRIK4	2900	broad.mit.edu	37	chr11	120673464	120673464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctctccatcaccctggccAagaaccgcatcaaccgcgct	8	18	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:120673464A>G	uc001pxn.2	+	4	432	c.145A>G	c.(145-147)AAG>GAG	p.K49E	GRIK4_uc009zav.1_Missense_Mutation_p.K49E|GRIK4_uc009zaw.1_Missense_Mutation_p.K49E|GRIK4_uc009zax.1_Missense_Mutation_p.K49E	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	49	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CACCCTGGCCAAGAACCGCAT	0.582											OREG0021427	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	120673464	A	G	120673464	3	3	136	1	0	0	0	0	1	0	0	0	6776	131	5	3	151	3	GRIK4	11	120673464	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	1691897	120673464	14333052	383	79205											
TBCEL	219899	broad.mit.edu	37	chr11	120916421	120916421	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatcaacctagtggaagaAgtttcatgcaagtattatgt	10	5	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:120916421A>C	uc009zay.2	+	2	100	c.22A>C	c.(22-24)AGT>CGT	p.S8R	TBCEL_uc001pxo.2_Missense_Mutation_p.S8R|TBCEL_uc001pxp.2_5'UTR|TBCEL_uc001pxq.2_RNA	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	8						cytoplasm|cytoskeleton				skin(1)	1		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TAGTGGAAGAAGTTTCATGCA	0.353													C	120916421	A	C	120916421	3	2	136	1	0	0	0	0	1	0	0	0	15632	72	3	5	24	5	TBCEL	11	120916421	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	242957	120916421	14090095	384	79206											
CHEK1	1111	broad.mit.edu	37	chr11	125513723	125513723	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtcacttcaggtggtgtgtCagagtctcccagtggatttt	12	8	4	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:125513723C>T	uc009zbo.2	+	9	1743	c.851C>T	c.(850-852)TCA>TTA	p.S284L	CHEK1_uc010sbh.1_Missense_Mutation_p.S300L|CHEK1_uc010sbi.1_Missense_Mutation_p.S284L|CHEK1_uc001qcf.3_Missense_Mutation_p.S284L|CHEK1_uc009zbp.2_Missense_Mutation_p.S284L|CHEK1_uc001qcg.3_Missense_Mutation_p.S284L|CHEK1_uc009zbq.2_Missense_Mutation_p.S284L|CHEK1_uc001qci.1_RNA|CHEK1_uc001qcj.2_5'Flank	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	checkpoint kinase 1	284					cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|skin(1)	6	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		GGTGGTGTGTCAGAGTCTCCC	0.378								Other_conserved_DNA_damage_response_genes					T	125513723	C	T	125513723	3	4	136	1	0	0	0	0	1	0	0	0	3334	838	29	4	881	4	CHEK1	11	125513723	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	4597302	125513723	9492793	385	79207											
CDON	50937	broad.mit.edu	37	chr11	125864268	125864268	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttgaatgggagtgttattgTtacttgatggaatgtactaa	11	3	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr11:125864268T>A	uc009zbw.2	-	14	2689	c.2561A>T	c.(2560-2562)AAC>ATC	p.N854I	CDON_uc001qdb.3_Missense_Mutation_p.N231I|CDON_uc001qdc.3_Missense_Mutation_p.N854I	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	854	Extracellular (Potential).|Fibronectin type-III 3.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		AGTGTTATTGTTACTTGATGG	0.343													A	125864268	T	A	125864268	3	1	136	1	0	0	0	0	1	0	0	0	3170	1725	60	5	1261	5	CDON	11	125864268	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	350545	125864268	9142248	386	79208											
KDM5A	5927	broad.mit.edu	37	chr12	401986	401986	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcattctcatcatcagacTcctctgctcctgaccagtca	5	16	5	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:401986T>C	uc001qif.1	-	27	5168	c.4805A>G	c.(4804-4806)GAG>GGG	p.E1602G	KDM5A_uc001qie.1_Missense_Mutation_p.E1607G	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	1602					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						ATCATCAGACTCCTCTGCTCC	0.478			T 	NUP98	AML								C	401986	T	C	401986	3	2	136	1	0	0	0	0	1	0	0	0	8133	1551	54	3	275	3	KDM5A	12	401986	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08		401986	133449909	387	79209											
ITFG2	55846	broad.mit.edu	37	chr12	2929369	2929369	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agggcagctggtgtccctcaAgaaatggatgctggagggtc	16	8	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:2929369A>C	uc001qlb.1	+	5	588	c.524A>C	c.(523-525)AAG>ACG	p.K175T	ITFG2_uc010seb.1_5'UTR|ITFG2_uc010sec.1_RNA	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	175											0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GTGTCCCTCAAGAAATGGATG	0.602													C	2929369	A	C	2929369	3	2	136	1	0	0	0	0	1	0	0	0	7870	72	3	5	542	5	ITFG2	12	2929369	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	2527383	2929369	130922526	388	79210											
GRIN2B	2904	broad.mit.edu	37	chr12	13717464	13717464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagccatgttcttggccgtgCgcagcaggcgcaggatgttg	15	10	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:13717464C>T	uc001rbt.2	-	13	2887	c.2708G>A	c.(2707-2709)CGC>CAC	p.R903H		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	903	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTTGGCCGTGCGCAGCAGGCG	0.582													T	13717464	C	T	13717464	3	4	136	1	0	0	0	0	1	0	0	0	6780	768	27	1	1750	1	GRIN2B	12	13717464	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	10788095	13717464	120134431	389	79211											
PIK3C2G	5288	broad.mit.edu	37	chr12	18691172	18691172	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acccacagcattttcaagatTttgtggaactttgctgtcgt	8	9	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:18691172T>G	uc001rdt.2	+	24	3399	c.3283T>G	c.(3283-3285)TTT>GTT	p.F1095V	PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.F1136V|PIK3C2G_uc010sic.1_Missense_Mutation_p.F914V	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2 gamma	1095	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21		Hepatocellular(102;0.194)				TTTTCAAGATTTTGTGGAACT	0.393													G	18691172	T	G	18691172	3	3	136	1	0	0	0	0	1	0	0	0	11911	1841	64	5	3373	5	PIK3C2G	12	18691172	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	4973708	18691172	115160723	390	79212											
KCNJ8	3764	broad.mit.edu	37	chr12	21918912	21918912	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaacagtgttgccaaatttGgagtaatccacagaatacac	7	8	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:21918912G>T	uc001rff.2	-	3	1358	c.1020C>A	c.(1018-1020)TCC>TCA	p.S340S		NM_004982	NP_004973	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel J8	340	Cytoplasmic (By similarity).					voltage-gated potassium channel complex					0					Levosimendan(DB00922)	TGCCAAATTTGGAGTAATCCA	0.493													T	21918912	G	T	21918912	2	4	136	1	0	0	0	0	0	0	0	1	8056	1335	47	5		5	KCNJ8	12	21918912	Silent	SNP	G	TCGA-CD-5801-01A-11D-1600-08	3227740	21918912	111932983	391	79213											
ITPR2	3709	broad.mit.edu	37	chr12	26875410	26875410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcagcatccaaggacaCacgcatggcattcttctcca	7	15	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:26875410C>T	uc001rhg.2	-	5	862	c.445G>A	c.(445-447)GTG>ATG	p.V149M	ITPR2_uc001rhh.1_Missense_Mutation_p.V87M|ITPR2_uc001rhi.1_Missense_Mutation_p.V149M	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	149	MIR 1.|Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					TCCAAGGACACACGCATGGCA	0.383													T	26875410	C	T	26875410	3	4	136	1	0	0	0	0	1	0	0	0	7921	478	17	4	7872	4	ITPR2	12	26875410	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	4956498	26875410	106976485	392	79214											
FGD4	121512	broad.mit.edu	37	chr12	32791654	32791654	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcagtatatggagaagtcAaaaccttggcagaaagcttg	10	7	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:32791654A>C	uc001rkz.2	+	16	2445	c.1968A>C	c.(1966-1968)TCA>TCC	p.S656S	FGD4_uc001rlc.2_Silent_p.S741S|FGD4_uc001rky.2_Silent_p.S408S|FGD4_uc001rla.2_Silent_p.S312S|FGD4_uc010ske.1_Silent_p.S768S|FGD4_uc001rlb.1_RNA	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	656	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGGAGAAGTCAAAACCTTGGC	0.433													C	32791654	A	C	32791654	2	2	136	1	0	0	0	0	0	0	0	1	5835	117	5	5		5	FGD4	12	32791654	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	5916244	32791654	101060241	393	79215											
SFRS2IP	9169	broad.mit.edu	37	chr12	46320310	46320310	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaccaaagtttttattccaAgaatttcctgaattttcatt	4	7	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:46320310A>G	uc001rox.2	-	11	3461	c.3174T>C	c.(3172-3174)TCT>TCC	p.S1058S	SFRS2IP_uc001row.2_Silent_p.S743S|SFRS2IP_uc001roy.1_Silent_p.S1132S	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	1058					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		TTTTATTCCAAGAATTTCCTG	0.398													G	46320310	A	G	46320310	2	3	136	1	0	0	0	0	0	0	0	1	14177	59	3	3		3	SFRS2IP	12	46320310	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	13528656	46320310	87531585	394	79216											
LACRT	90070	broad.mit.edu	37	chr12	55026976	55026976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggactcacaggtcccagcttCctgggcaggatcagcacccg	12	15	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:55026976C>T	uc001sgi.1	-	2	138	c.100G>A	c.(100-102)GAA>AAA	p.E34K		NM_033277	NP_150593	Q9GZZ8	LACRT_HUMAN	lacritin precursor	34					calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			central_nervous_system(1)	1						GTCCCAGCTTCCTGGGCAGGA	0.582													T	55026976	C	T	55026976	3	4	136	1	0	0	0	0	1	0	0	0	8596	864	30	4	332	4	LACRT	12	55026976	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	8706666	55026976	78824919	395	79217											
OR6C4	341418	broad.mit.edu	37	chr12	55945482	55945482	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctagcaatcttaccaccaAtcatcctgatgacccaggta	5	14	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:55945482A>C	uc010spp.1	+	1	472	c.472A>C	c.(472-474)ATC>CTC	p.I158L		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTTACCACCAATCATCCTGAT	0.478													C	55945482	A	C	55945482	3	2	136	1	0	0	0	0	1	0	0	0	11193	101	4	5	474	5	OR6C4	12	55945482	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	918506	55945482	77906413	396	79218											
ESYT1	23344	broad.mit.edu	37	chr12	56530645	56530645	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctcagcagctctggtccaAactccagactctatatgaaa	7	12	3	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:56530645A>C	uc001sjq.2	+	16	1800	c.1750A>C	c.(1750-1752)AAC>CAC	p.N584H	ESYT1_uc001sjr.2_Missense_Mutation_p.N594H	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	584						integral to membrane				ovary(4)|skin(1)	5						CTCTGGTCCAAACTCCAGACT	0.527													C	56530645	A	C	56530645	3	2	136	1	0	0	0	0	1	0	0	0	5264	14	1	5	1842	5	ESYT1	12	56530645	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	585163	56530645	77321250	397	79219											
MYO1A	4640	broad.mit.edu	37	chr12	57437101	57437101	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcacaaagctctctctacttCttctgaattcaagcccacca	4	15	5	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:57437101C>A	uc001smw.3	-	11	1177	c.934G>T	c.(934-936)GAA>TAA	p.E312*	MYO1A_uc010sqz.1_Nonsense_Mutation_p.E150*|MYO1A_uc009zpd.2_Nonsense_Mutation_p.E312*	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	myosin IA	312	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|urinary_tract(1)	7						CTCTCTACTTCTTCTGAATTC	0.507													A	57437101	C	A	57437101	4	1	136	1	0	0	0	0	0	1	0	0	10068	922	32	5	2269	5	MYO1A	12	57437101	Nonsense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	906456	57437101	76414794	398	79220											
DPY19L2	283417	broad.mit.edu	37	chr12	64061913	64061913	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccggagctgcgccagggaAttacggacgaactggaaggg	16	10	0	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:64061913A>G	uc001srp.1	-	1	442	c.261T>C	c.(259-261)AAT>AAC	p.N87N	DPY19L2_uc009zqk.1_RNA	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	87					multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GCGCCAGGGAATTACGGACGA	0.612													G	64061913	A	G	64061913	2	3	136	1	0	0	0	0	0	0	0	1	4741	98	4	3		3	DPY19L2	12	64061913	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	6624812	64061913	69789982	399	79221											
WIF1	11197	broad.mit.edu	37	chr12	65460501	65460501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagtccaccattcatacatCgtggggtacaaagggcttat	9	9	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:65460501C>T	uc001ssk.2	-	6	795	c.650G>A	c.(649-651)CGA>CAA	p.R217Q		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1 precursor	217	EGF-like 2.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			ovary(2)|lung(1)|skin(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		ATTCATACATCGTGGGGTACA	0.423			T	HMGA2	pleomorphic salivary gland adenoma								T	65460501	C	T	65460501	3	4	136	1	0	0	0	0	1	0	0	0	17363	884	31	1	509	1	WIF1	12	65460501	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	1398588	65460501	68391394	400	79222											
NUP107	57122	broad.mit.edu	37	chr12	69085815	69085815	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgttccgggctgttcacaaAcacagagccccacagtataa	9	13	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:69085815A>C	uc001suf.2	+	5	486	c.371A>C	c.(370-372)AAC>ACC	p.N124T	NUP107_uc001sug.2_Intron|NUP107_uc010stj.1_Missense_Mutation_p.N95T	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	124					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CTGTTCACAAACACAGAGCCC	0.403													C	69085815	A	C	69085815	3	2	136	1	0	0	0	0	1	0	0	0	10753	43	2	5	389	5	NUP107	12	69085815	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	3625314	69085815	64766080	401	79223											
SLC35E3	55508	broad.mit.edu	37	chr12	69141776	69141776	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agtttaatttccttggaatgGtgtttgctgctcttggtgtt	11	5	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:69141776G>C	uc001suh.2	+	2	691	c.469G>C	c.(469-471)GTG>CTG	p.V157L		NM_018656	NP_061126	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E2	157	Helical; (Potential).					integral to membrane					0	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			CCTTGGAATGGTGTTTGCTGC	0.308													C	69141776	G	C	69141776	3	2	136	1	0	0	0	0	1	0	0	0	14586	1261	44	5	475	5	SLC35E3	12	69141776	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	55961	69141776	64710119	402	79224											
PTPRR	5801	broad.mit.edu	37	chr12	71092045	71092045	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tataaaatcaagaagcttacTtggtaaaatggtcttatagc	7	5	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:71092045T>G	uc001swi.1	-	8	1695	c.1279A>C	c.(1279-1281)AAT>CAT	p.N427H	PTPRR_uc001swh.1_Missense_Mutation_p.N182H|PTPRR_uc009zrs.2_Missense_Mutation_p.N276H|PTPRR_uc010stq.1_Missense_Mutation_p.N315H|PTPRR_uc010str.1_Missense_Mutation_p.N276H	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	427	Tyrosine-protein phosphatase.|Cytoplasmic (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AGAAGCTTACTTGGTAAAATG	0.204													G	71092045	T	G	71092045	3	3	136	1	0	0	0	0	1	0	0	0	12810	1623	56	5	722	5	PTPRR	12	71092045	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1950269	71092045	62759850	403	79225											
GLIPR1L2	144321	broad.mit.edu	37	chr12	75816695	75816695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgtagaggaacactgaCgagaagaccttatgaaccag	11	7	0	5			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:75816695C>T	uc001sxr.1	+	4	604	c.596C>T	c.(595-597)ACG>ATG	p.T199M	GLIPR1L2_uc001sxp.1_Missense_Mutation_p.T199M|GLIPR1L2_uc001sxq.1_Missense_Mutation_p.T92M	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	199						integral to membrane				ovary(1)	1						GGAACACTGACGAGAAGACCT	0.294													T	75816695	C	T	75816695	3	4	136	1	0	0	0	0	1	0	0	0	6443	536	19	1	610	1	GLIPR1L2	12	75816695	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	4724650	75816695	58035200	404	79226											
E2F7	144455	broad.mit.edu	37	chr12	77423918	77423918	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcagaggctgcagaagcaAgtgagacatccacttgtcca	11	11	0	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:77423918A>C	uc001sym.3	-	10	1813	c.1577T>G	c.(1576-1578)CTT>CGT	p.L526R	E2F7_uc009zse.2_Missense_Mutation_p.L13R	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	526					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						TGCAGAAGCAAGTGAGACATC	0.527													C	77423918	A	C	77423918	3	2	136	1	0	0	0	0	1	0	0	0	4872	72	3	5	1174	5	E2F7	12	77423918	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	1607223	77423918	56427977	405	79227											
SLC5A8	160728	broad.mit.edu	37	chr12	101576638	101576638	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcgatctgaagtaaggttTgattagatcttccacagtta	10	6	2	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:101576638T>C	uc001thz.3	-	9	1498	c.1108A>G	c.(1108-1110)AAA>GAA	p.K370E		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	370	Cytoplasmic (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						AAGTAAGGTTTGATTAGATCT	0.358													C	101576638	T	C	101576638	3	2	136	1	0	0	0	0	1	0	0	0	14671	1821	63	3	752	3	SLC5A8	12	101576638	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	24152720	101576638	32275257	406	79228											
NUP37	79023	broad.mit.edu	37	chr12	102512287	102512287	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcagcatttcttgaggcatCttgcttcatcttgtatgtca	9	9	5	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:102512287C>T	uc001tjc.2	-	1	75	c.10G>A	c.(10-12)GAT>AAT	p.D4N	NUP37_uc009zub.1_Missense_Mutation_p.D4N|C12orf48_uc001tjd.2_5'Flank|C12orf48_uc001tje.2_5'Flank|C12orf48_uc001tjg.2_5'Flank|C12orf48_uc010swa.1_5'Flank|C12orf48_uc001tjf.2_5'Flank|C12orf48_uc001tjh.2_5'Flank|C12orf48_uc010swb.1_5'Flank|C12orf48_uc001tji.2_5'Flank	NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	4					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			ovary(1)	1						CTTGAGGCATCTTGCTTCATC	0.393													T	102512287	C	T	102512287	3	4	136	1	0	0	0	0	1	0	0	0	10764	913	32	4	1006	4	NUP37	12	102512287	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	935649	102512287	31339608	407	79229											
MED13L	23389	broad.mit.edu	37	chr12	116446774	116446774	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaatggtattaagggtcTcttttgcagcttgtctcctt	10	7	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:116446774T>C	uc001tvw.2	-	10	1499	c.1444A>G	c.(1444-1446)AGA>GGA	p.R482G		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	482					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ATTAAGGGTCTCTTTTGCAGC	0.463													C	116446774	T	C	116446774	3	2	136	1	0	0	0	0	1	0	0	0	9431	1559	54	3	5276	3	MED13L	12	116446774	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	13934487	116446774	17405121	408	79230											
SBNO1	55206	broad.mit.edu	37	chr12	123805055	123805055	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggggaggtcttcagctaatTtttctagcttatcaagcagg	12	7	4	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:123805055T>G	uc010tap.1	-	18	2591	c.2591A>C	c.(2590-2592)AAA>ACA	p.K864T	SBNO1_uc010tao.1_Missense_Mutation_p.K863T|SBNO1_uc010taq.1_Intron	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	864	Potential.						ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTCAGCTAATTTTTCTAGCTT	0.453													G	123805055	T	G	123805055	3	3	136	1	0	0	0	0	1	0	0	0	13862	1841	64	5	1646	5	SBNO1	12	123805055	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	7358281	123805055	10046840	409	79231											
GTF2H3	2967	broad.mit.edu	37	chr12	124130078	124130078	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgaatcgttccaacaaacTtgctgtgatagcaagtcaca	7	10	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:124130078T>C	uc001ufo.1	+	3	196	c.170T>C	c.(169-171)CTT>CCT	p.L57P	GTF2H3_uc010tau.1_Missense_Mutation_p.L16P	NM_001516	NP_001507	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3,	57					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		TCCAACAAACTTGCTGTGATA	0.383								NER					C	124130078	T	C	124130078	3	2	136	1	0	0	0	0	1	0	0	0	6864	1609	56	3	180	3	GTF2H3	12	124130078	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	325023	124130078	9721817	410	79232											
SCARB1	949	broad.mit.edu	37	chr12	125294827	125294827	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgcactgatcggaatgccaGaagtcaacctggggggaagc	14	9	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:125294827G>A	uc001ugo.3	-	6	988	c.735C>T	c.(733-735)TTC>TTT	p.F245F	SCARB1_uc001ugn.3_Silent_p.F245F|SCARB1_uc001ugm.3_Silent_p.F245F|SCARB1_uc010tbd.1_Silent_p.F245F|SCARB1_uc010tbe.1_Silent_p.F204F|SCARB1_uc001ugp.3_Silent_p.F245F	NM_005505	NP_005496	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1 isoform 1	245	Extracellular (Potential).				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			kidney(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CGGAATGCCAGAAGTCAACCT	0.567													A	125294827	G	A	125294827	2	1	136	1	0	0	0	0	0	0	0	1	13881	933	33	4		4	SCARB1	12	125294827	Silent	SNP	G	TCGA-CD-5801-01A-11D-1600-08	1164749	125294827	8557068	411	79233											
FZD10	11211	broad.mit.edu	37	chr12	130647613	130647613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatcgagatcccgatgtgCaaggacatcggctacaacat	9	13	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:130647613C>T	uc001uii.2	+	1	582	c.126C>T	c.(124-126)TGC>TGT	p.C42C	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	42	FZ.|Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TCCCGATGTGCAAGGACATCG	0.642													T	130647613	C	T	130647613	2	4	136	1	0	0	0	0	0	0	0	1	6129	718	25	2		2	FZD10	12	130647613	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	5352786	130647613	3204282	412	79234											
CHFR	55743	broad.mit.edu	37	chr12	133433083	133433083	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggactcactgtcaacgtcTgacagctccagcaggtcctc	10	14	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr12:133433083T>C	uc001ulf.2	-	10	1320	c.1236A>G	c.(1234-1236)TCA>TCG	p.S412S	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Silent_p.S400S|CHFR_uc010tbs.1_Silent_p.S412S|CHFR_uc001uld.2_Silent_p.S371S|CHFR_uc010tbt.1_Silent_p.S320S	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	412					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TGTCAACGTCTGACAGCTCCA	0.512													C	133433083	T	C	133433083	2	2	136	1	0	0	0	0	0	0	0	1	3337	1567	55	3		3	CHFR	12	133433083	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	2785470	133433083	418812	413	79235											
NBEA	26960	broad.mit.edu	37	chr13	35692531	35692531	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggatgaaaatattcatgaTgtgctacagttactggtggc	11	6	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr13:35692531T>C	uc001uvb.2	+	17	2369	c.2163T>C	c.(2161-2163)GAT>GAC	p.D721D		NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	721						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATATTCATGATGTGCTACAGT	0.318													C	35692531	T	C	35692531	2	2	136	1	0	0	0	0	0	0	0	1	10187	1461	51	3		3	NBEA	13	35692531	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08		35692531	79477347	414	79236											
NBEA	26960	broad.mit.edu	37	chr13	36242525	36242525	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccattctcctgagcagtgaCggccagaacctggtcaccgg	12	14	2	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr13:36242525C>T	uc001uvb.2	+	57	8825	c.8619C>T	c.(8617-8619)GAC>GAT	p.D2873D	NBEA_uc010abi.2_Silent_p.D1531D|NBEA_uc010tef.1_Silent_p.D666D|NBEA_uc001uvd.2_Silent_p.D451D	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2873	WD 4.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGAGCAGTGACGGCCAGAACC	0.423													T	36242525	C	T	36242525	2	4	136	1	0	0	0	0	0	0	0	1	10187	535	19	1		1	NBEA	13	36242525	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	549994	36242525	78927353	415	79237											
FREM2	341640	broad.mit.edu	37	chr13	39338478	39338478	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taccagaattttcgtctgaaTtgggcatggatctcctttga	9	8	2	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr13:39338478T>G	uc001uwv.2	+	3	5610	c.5301T>G	c.(5299-5301)AAT>AAG	p.N1767K		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1767	Calx-beta 1.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTCGTCTGAATTGGGCATGGA	0.343													G	39338478	T	G	39338478	3	3	136	1	0	0	0	0	1	0	0	0	6045	1490	52	5	5311	5	FREM2	13	39338478	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	3095953	39338478	75831400	416	79238											
HNRNPA1L2	144983	broad.mit.edu	37	chr13	53216635	53216635	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttgccgtcatgtctaAgtcagcgtctccaaaagagc	8	13	5	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr13:53216635A>C	uc001vgx.1	+	7	1081	c.8A>C	c.(7-9)AAG>ACG	p.K3T	HNRNPA1L2_uc001vgy.1_Missense_Mutation_p.K3T|HNRNPA1L2_uc001vgz.1_Missense_Mutation_p.K3T	NM_001011724	NP_001011724	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like	3					mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding				0						GTCATGTCTAAGTCAGCGTCT	0.433													C	53216635	A	C	53216635	3	2	136	1	0	0	0	0	1	0	0	0	7258	72	3	5	10	5	HNRNPA1L2	13	53216635	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	13878157	53216635	61953243	417	79239											
PCDH17	27253	broad.mit.edu	37	chr13	58298873	58298873	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taccgcacaaatctctttgtAcctacagttgaagctaatgt	6	10	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr13:58298873A>C	uc001vhq.1	+	4	3817	c.2925A>C	c.(2923-2925)GTA>GTC	p.V975V	PCDH17_uc010aec.1_Silent_p.V974V|PCDH17_uc001vhr.1_Silent_p.V64V	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	975	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATCTCTTTGTACCTACAGTTG	0.448													C	58298873	A	C	58298873	2	2	136	1	0	0	0	0	0	0	0	1	11512	378	14	5		5	PCDH17	13	58298873	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	5082238	58298873	56871005	418	79240											
PCDH9	5101	broad.mit.edu	37	chr13	67205388	67205388	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagtcctcttgtccggAgaggcctggtcatagaattc	11	11	3	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr13:67205388A>G	uc001vik.2	-	4	3986	c.3294T>C	c.(3292-3294)TCT>TCC	p.S1098S	PCDH9_uc010aei.2_RNA|PCDH9_uc001vil.2_Silent_p.S1064S|PCDH9_uc010thl.1_Silent_p.S1056S	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	1098	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCTTGTCCGGAGAGGCCTGGT	0.512													G	67205388	A	G	67205388	2	3	136	1	0	0	0	0	0	0	0	1	11518	291	11	3		3	PCDH9	13	67205388	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	8906515	67205388	47964490	419	79241											
MYCBP2	23077	broad.mit.edu	37	chr13	77715012	77715012	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggttcagactttggtttgAccaactgagttcctggtggt	13	7	1	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr13:77715012A>G	uc001vkf.2	-	51	7347	c.7256T>C	c.(7255-7257)GTC>GCC	p.V2419A	MYCBP2_uc010aev.2_Missense_Mutation_p.V1823A	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTTTGGTTTGACCAACTGAGT	0.408													G	77715012	A	G	77715012	3	3	136	1	0	0	0	0	1	0	0	0	10018	275	10	3	6802	3	MYCBP2	13	77715012	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	10509624	77715012	37454866	420	79242											
SLITRK5	26050	broad.mit.edu	37	chr13	88330472	88330472	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaaactaaacgttgagccGgactacctcgaagtgctgga	11	10	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr13:88330472G>A	uc001vln.2	+	2	3048	c.2829G>A	c.(2827-2829)CCG>CCA	p.P943P	SLITRK5_uc010tic.1_Silent_p.P702P	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	943	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACGTTGAGCCGGACTACCTCG	0.468													A	88330472	G	A	88330472	2	1	136	1	0	0	0	0	0	0	0	1	14746	1103	39	1		1	SLITRK5	13	88330472	Silent	SNP	G	TCGA-CD-5801-01A-11D-1600-08	10615460	88330472	26839406	421	79243											
DOCK9	23348	broad.mit.edu	37	chr13	99519764	99519764	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggttgcacactacacggagAaattcaaacttgtattcaaa	7	8	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr13:99519764A>G	uc001vnt.2	-	30	3259	c.3204T>C	c.(3202-3204)TTT>TTC	p.F1068F	DOCK9_uc001vnw.2_Silent_p.F1067F|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.F1068F|DOCK9_uc010tis.1_Silent_p.F1067F|DOCK9_uc010tit.1_Silent_p.F1068F|DOCK9_uc010tiq.1_Silent_p.F32F|DOCK9_uc010afu.1_Silent_p.F914F	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1068					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTACACGGAGAAATTCAAACT	0.358													G	99519764	A	G	99519764	2	3	136	1	0	0	0	0	0	0	0	1	4694	243	9	3		3	DOCK9	13	99519764	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	11189292	99519764	15650114	422	79244											
OR4M1	441670	broad.mit.edu	37	chr14	20248901	20248901	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accatcatgaatcgacgtctCtgctgtatcctggtggctct	9	12	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr14:20248901C>T	uc010tku.1	+	1	420	c.420C>T	c.(418-420)CTC>CTT	p.L140L		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	140	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCGACGTCTCTGCTGTATCC	0.517													T	20248901	C	T	20248901	2	4	136	1	0	0	0	0	0	0	0	1	11075	900	32	4		4	OR4M1	14	20248901	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08		20248901	87100639	423	79245											
RPGRIP1	57096	broad.mit.edu	37	chr14	21794020	21794020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtcttgggaacctcagaacGagctgtggattgaaatcacc	11	9	3	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr14:21794020G>A	uc001wag.2	+	16	2398	c.2398G>A	c.(2398-2400)GAG>AAG	p.E800K	RPGRIP1_uc001wah.2_Missense_Mutation_p.E442K|RPGRIP1_uc001wai.2_Intron|RPGRIP1_uc001wak.2_Missense_Mutation_p.E275K|RPGRIP1_uc010aim.2_Missense_Mutation_p.E183K|RPGRIP1_uc001wal.2_Missense_Mutation_p.E159K|RPGRIP1_uc001wam.2_Missense_Mutation_p.E117K	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	800					response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		ACCTCAGAACGAGCTGTGGAT	0.502													A	21794020	G	A	21794020	3	1	136	1	0	0	0	0	1	0	0	0	13549	1059	37	1	2460	1	RPGRIP1	14	21794020	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	1545119	21794020	85555520	424	79246											
PSMB11	122706	broad.mit.edu	37	chr14	23511989	23511989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggatctccctatgcctaCggcgtgctagaccgtggcta	11	13	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr14:23511989C>T	uc010ake.1	+	1	614	c.555C>T	c.(553-555)TAC>TAT	p.Y185Y		NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN	proteasome beta 11 subunit precursor	185					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity				0	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CCTATGCCTACGGCGTGCTAG	0.642													T	23511989	C	T	23511989	2	4	136	1	0	0	0	0	0	0	0	1	12676	547	19	1		1	PSMB11	14	23511989	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	1717969	23511989	83837551	425	79247											
TGM1	7051	broad.mit.edu	37	chr14	24727813	24727813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtccatggtaagggatGtgtctgtgtcgtgggcggag	18	5	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr14:24727813G>A	uc001wod.2	-	8	1350	c.1226C>T	c.(1225-1227)ACA>ATA	p.T409I	TGM1_uc010tog.1_Intron	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	409					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GGTAAGGGATGTGTCTGTGTC	0.577													A	24727813	G	A	24727813	3	1	136	1	0	0	0	0	1	0	0	0	15826	1377	48	4	1259	4	TGM1	14	24727813	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	1215824	24727813	82621727	426	79248											
NOVA1	4857	broad.mit.edu	37	chr14	26949249	26949249	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgactggttctgtcttggcCacattttggggcatttctcg	11	10	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr14:26949249C>A	uc001wpy.2	-	3	699	c.381G>T	c.(379-381)GTG>GTT	p.V127V	NOVA1_uc001wpz.2_Silent_p.V127V|NOVA1_uc001wqa.2_Silent_p.V5V|NOVA1_uc001wqb.2_Silent_p.V127V	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	130					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5				GBM - Glioblastoma multiforme(265;0.0135)		CTGTCTTGGCCACATTTTGGG	0.433													A	26949249	C	A	26949249	2	1	136	1	0	0	0	0	0	0	0	1	10554	581	21	5		5	NOVA1	14	26949249	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	2221436	26949249	80400291	427	79249											
STRN3	29966	broad.mit.edu	37	chr14	31416341	31416341	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taggagattcacctccattcAggatctgttctaaattcttt	6	9	5	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr14:31416341A>T	uc001wqu.2	-	5	887	c.671T>A	c.(670-672)CTG>CAG	p.L224Q	STRN3_uc001wqv.2_Missense_Mutation_p.L224Q|STRN3_uc010tpj.1_RNA	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	nuclear autoantigen isoform 1	224					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ACCTCCATTCAGGATCTGTTC	0.323													T	31416341	A	T	31416341	3	4	136	1	0	0	0	0	1	0	0	0	15329	188	7	5	1778	5	STRN3	14	31416341	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	4467092	31416341	75933199	428	79250											
ERO1L	30001	broad.mit.edu	37	chr14	53119797	53119797	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tataatttacttgatttcatGaagtatttccagaagtaaca	5	5	1	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr14:53119797G>A	uc001wzv.2	-	12	1271	c.1045C>T	c.(1045-1047)CAT>TAT	p.H349Y	ERO1L_uc001wzw.2_RNA|ERO1L_uc010aof.2_RNA	NM_014584	NP_055399	Q96HE7	ERO1A_HUMAN	ERO1-like precursor	349					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor				0	Breast(41;0.226)					TTGATTTCATGAAGTATTTCC	0.244													A	53119797	G	A	53119797	3	1	136	1	0	0	0	0	1	0	0	0	5239	1290	45	4	381	4	ERO1L	14	53119797	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	21703456	53119797	54229743	429	79251											
TMEM30B	161291	broad.mit.edu	37	chr14	61747020	61747020	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taggtgatgttgacgcggtaGgcgccccgcggcagcccggc	17	13	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr14:61747020G>T	uc001xfl.2	-	1	1511	c.846C>A	c.(844-846)GCC>GCA	p.A282A	PRKCH_uc010tsa.1_Intron|TMEM30B_uc010apr.1_RNA	NM_001017970	NP_001017970	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	282						integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		TGACGCGGTAGGCGCCCCGCG	0.662													T	61747020	G	T	61747020	2	4	136	1	0	0	0	0	0	0	0	1	16151	987	35	5		5	TMEM30B	14	61747020	Silent	SNP	G	TCGA-CD-5801-01A-11D-1600-08	8627223	61747020	45602520	430	79252											
SYNE2	23224	broad.mit.edu	37	chr14	64593322	64593322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctccactccagacgctgGctcttgagttgaagaaactt	8	13	2	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr14:64593322G>A	uc001xgm.2	+	73	13944	c.13714G>A	c.(13714-13716)GCT>ACT	p.A4572T	SYNE2_uc001xgl.2_Missense_Mutation_p.A4572T|SYNE2_uc010apy.2_Missense_Mutation_p.A957T|SYNE2_uc010apz.1_Missense_Mutation_p.A464T	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4572	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCAGACGCTGGCTCTTGAGTT	0.498													A	64593322	G	A	64593322	3	1	136	1	0	0	0	0	1	0	0	0	15443	1203	42	2	14000	2	SYNE2	14	64593322	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	2846302	64593322	42756218	431	79253											
PLEKHG3	26030	broad.mit.edu	37	chr14	65210268	65210268	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggccagggaccaagctcAccggtggccctgctggggca	16	13	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr14:65210268A>G	uc001xho.1	+	17	3776	c.3507A>G	c.(3505-3507)TCA>TCG	p.S1169S	PLEKHG3_uc001xhn.1_Silent_p.S1113S|PLEKHG3_uc001xhp.2_Silent_p.S1290S|PLEKHG3_uc010aqh.1_Silent_p.S711S|PLEKHG3_uc001xhq.1_Silent_p.S674S	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	1169					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GACCAAGCTCACCGGTGGCCC	0.662													G	65210268	A	G	65210268	2	3	136	1	0	0	0	0	0	0	0	1	12070	146	6	3		3	PLEKHG3	14	65210268	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	616946	65210268	42139272	432	79254											
SPTB	6710	broad.mit.edu	37	chr14	65264532	65264532	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgggactggatggtaaaaAgtagaacttccagattcccc	10	10	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr14:65264532A>C	uc001xht.2	-	9	1151	c.1097T>G	c.(1096-1098)CTT>CGT	p.L366R	SPTB_uc001xhr.2_Missense_Mutation_p.L366R|SPTB_uc001xhs.2_Missense_Mutation_p.L366R|SPTB_uc001xhu.2_Missense_Mutation_p.L366R	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	366	Spectrin 1.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GATGGTAAAAAGTAGAACTTC	0.423													C	65264532	A	C	65264532	3	2	136	1	0	0	0	0	1	0	0	0	15117	72	3	5	6066	5	SPTB	14	65264532	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	54264	65264532	42085008	433	79255											
NRXN3	9369	broad.mit.edu	37	chr14	79432563	79432563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagctgaaggctcgttttgGactgaggaacatcatcgctg	13	8	1	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr14:79432563G>A	uc001xun.2	+	9	1963	c.1472G>A	c.(1471-1473)GGA>GAA	p.G491E	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.G616E	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	864	Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCTCGTTTTGGACTGAGGAAC	0.468													A	79432563	G	A	79432563	3	1	136	1	0	0	0	0	1	0	0	0	10667	1174	41	4	1498	4	NRXN3	14	79432563	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	14168031	79432563	27916977	434	79256											
STON2	85439	broad.mit.edu	37	chr14	81864716	81864716	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtggcaatcacatggtccAaagtcgtcatgctaaaaagg	12	8	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr14:81864716A>G	uc010tvu.1	-	1	212	c.11T>C	c.(10-12)TTG>TCG	p.L4S	STON2_uc001xvk.1_Missense_Mutation_p.L4S|STON2_uc010atc.1_Missense_Mutation_p.L4S	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	4					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CACATGGTCCAAAGTCGTCAT	0.532													G	81864716	A	G	81864716	3	3	136	1	0	0	0	0	1	0	0	0	15317	131	5	3	2724	3	STON2	14	81864716	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	2432153	81864716	25484824	435	79257											
FLRT2	23768	broad.mit.edu	37	chr14	86089254	86089254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtttagtagggggcatcGttcaggagcgcatagtcagc	14	8	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr14:86089254G>A	uc001xvr.2	+	2	2163	c.1396G>A	c.(1396-1398)GTT>ATT	p.V466I	FLRT2_uc010atd.2_Missense_Mutation_p.V466I	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	466	Fibronectin type-III.|Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGGGGGCATCGTTCAGGAGCG	0.498													A	86089254	G	A	86089254	3	1	136	1	0	0	0	0	1	0	0	0	5939	1145	40	1	1398	1	FLRT2	14	86089254	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	4224538	86089254	21260286	436	79258											
KCNK13	56659	broad.mit.edu	37	chr14	90650597	90650597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgcctacatcatgaagtcGtgccaccagcggcagctccg	10	15	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr14:90650597G>A	uc001xye.1	+	2	919	c.477G>A	c.(475-477)TCG>TCA	p.S159S		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	159	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				TCATGAAGTCGTGCCACCAGC	0.602													A	90650597	G	A	90650597	2	1	136	1	0	0	0	0	0	0	0	1	8061	1132	40	1		1	KCNK13	14	90650597	Silent	SNP	G	TCGA-CD-5801-01A-11D-1600-08	4561343	90650597	16698943	437	79259											
TRIP11	9321	broad.mit.edu	37	chr14	92488050	92488050	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatgactaatcccataagcGaatgaagatgatgcagtggt	11	6	0	5			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr14:92488050G>A	uc001xzy.2	-	4	1226	c.438C>T	c.(436-438)TTC>TTT	p.F146F		NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	146	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		TCCCATAAGCGAATGAAGATG	0.448			T	PDGFRB	AML								A	92488050	G	A	92488050	2	1	136	1	0	0	0	0	0	0	0	1	16552	1049	37	1		1	TRIP11	14	92488050	Silent	SNP	G	TCGA-CD-5801-01A-11D-1600-08	1837453	92488050	14861490	438	79260											
TRIP11	9321	broad.mit.edu	37	chr14	92491681	92491681	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaagttgatttcggtaActtgtagattgctgctttat	10	4	0	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr14:92491681A>C	uc001xzy.2	-	3	1073	c.285T>G	c.(283-285)AGT>AGG	p.S95R		NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	95	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		GATTTCGGTAACTTGTAGATT	0.294			T	PDGFRB	AML								C	92491681	A	C	92491681	3	2	136	1	0	0	0	0	1	0	0	0	16552	40	2	5	5730	5	TRIP11	14	92491681	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	3631	92491681	14857859	439	79261											
KIAA1409	57578	broad.mit.edu	37	chr14	94063712	94063712	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttacattgcagtggaaaaAgttgctgtaatttgtagatt	9	3	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr14:94063712A>C	uc001ybv.1	+	21	2750	c.2667A>C	c.(2665-2667)AAA>AAC	p.K889N	KIAA1409_uc001ybs.1_Missense_Mutation_p.K889N	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1066						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		CAGTGGAAAAAGTTGCTGTAA	0.423													C	94063712	A	C	94063712	3	2	136	1	0	0	0	0	1	0	0	0	8230	69	3	5	2749	5	KIAA1409	14	94063712	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	1572031	94063712	13285828	440	79262											
SETD3	84193	broad.mit.edu	37	chr14	99932051	99932051	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggacttactctgcagcagcTcactggtcaggttcaagatt	10	10	4	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr14:99932051T>C	uc001ygc.2	-	2	262	c.92A>G	c.(91-93)GAG>GGG	p.E31G	SETD3_uc001ygd.2_Missense_Mutation_p.E31G|SETD3_uc001ygf.2_Missense_Mutation_p.E31G	NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	SET domain containing 3 isoform a	31					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity				0		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CTGCAGCAGCTCACTGGTCAG	0.498													C	99932051	T	C	99932051	3	2	136	1	0	0	0	0	1	0	0	0	14132	1551	54	3	1786	3	SETD3	14	99932051	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	5868339	99932051	7417489	441	79263											
AHNAK2	113146	broad.mit.edu	37	chr14	105419971	105419971	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccctgctctgtgtcttctGtggctttttctctgcctgtc	8	13	4	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr14:105419971G>T	uc010axc.1	-	7	1937	c.1817C>A	c.(1816-1818)ACA>AAA	p.T606K	AHNAK2_uc001ypx.2_Missense_Mutation_p.T506K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	606						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)			TGTGTCTTCTGTGGCTTTTTC	0.483													T	105419971	G	T	105419971	3	4	136	1	0	0	0	0	1	0	0	0	415	1377	48	5	15574	5	AHNAK2	14	105419971	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	5487920	105419971	1929569	442	79264											
RTF1	23168	broad.mit.edu	37	chr15	41772842	41772842	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggatggggctccaaggagatCtctgaacttggaagactaca	13	8	1	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr15:41772842C>T	uc001zny.2	+	18	2102	c.2090C>T	c.(2089-2091)TCT>TTT	p.S697F		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Paf1/RNA polymerase II complex component	697					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CCAAGGAGATCTCTGAACTTG	0.557													T	41772842	C	T	41772842	3	4	136	1	0	0	0	0	1	0	0	0	13721	913	32	4	2160	4	RTF1	15	41772842	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08		41772842	60758550	443	79265											
MGA	23269	broad.mit.edu	37	chr15	42003309	42003309	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggcatcatctcagaaaAtcaggcgaataactttgttg	8	8	4	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr15:42003309A>C	uc001zog.1	+	8	2937	c.2846A>C	c.(2845-2847)AAT>ACT	p.N949T	MGA_uc010ucy.1_Missense_Mutation_p.N949T|MGA_uc010ucz.1_Missense_Mutation_p.N949T	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 2	949						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ATCTCAGAAAATCAGGCGAAT	0.408													C	42003309	A	C	42003309	3	2	136	1	0	0	0	0	1	0	0	0	9540	101	4	5	2872	5	MGA	15	42003309	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	230467	42003309	60528083	444	79266											
MGA	23269	broad.mit.edu	37	chr15	42032110	42032110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacttgtttcaggttaatGgtaagagttacccgcaggct	11	9	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr15:42032110G>A	uc010uda.1	+	3	268	c.142G>A	c.(142-144)GGT>AGT	p.G48S	MGA_uc010ucy.1_Intron|MGA_uc010ucz.1_Intron	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	1413						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCAGGTTAATGGTAAGAGTTA	0.443													A	42032110	G	A	42032110	3	1	136	1	0	0	0	0	1	0	0	0	9540	1363	47	4		4	MGA	15	42032110	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	28801	42032110	60499282	445	79267											
SEMA6D	80031	broad.mit.edu	37	chr15	48056380	48056380	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttccttttcagcatccctggTtctgctgtctgtgcatttag	8	11	3	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr15:48056380T>A	uc010bek.2	+	11	1335	c.975T>A	c.(973-975)GGT>GGA	p.G325G	SEMA6D_uc001zvw.2_Silent_p.G325G|SEMA6D_uc001zvx.1_Silent_p.G325G|SEMA6D_uc001zvy.2_Silent_p.G325G|SEMA6D_uc001zvz.2_Silent_p.G325G|SEMA6D_uc001zwa.2_Silent_p.G325G|SEMA6D_uc001zwb.2_Silent_p.G325G|SEMA6D_uc001zwc.2_Silent_p.G325G	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	325	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GCATCCCTGGTTCTGCTGTCT	0.458													A	48056380	T	A	48056380	2	1	136	1	0	0	0	0	0	0	0	1	14042	1712	60	5		5	SEMA6D	15	48056380	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	6024270	48056380	54475012	446	79268											
MYEF2	50804	broad.mit.edu	37	chr15	48435171	48435171	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttatgccattcattattctGcaggctttttcagctgattc	6	9	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr15:48435171G>T	uc001zwi.3	-	17	1861	c.1737C>A	c.(1735-1737)TGC>TGA	p.C579*	MYEF2_uc001zwg.3_Nonsense_Mutation_p.C117*|MYEF2_uc001zwh.3_Nonsense_Mutation_p.C167*|MYEF2_uc001zwj.3_Nonsense_Mutation_p.C555*	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	579	RRM 3.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TCATTATTCTGCAGGCTTTTT	0.393													T	48435171	G	T	48435171	4	4	136	1	0	0	0	0	0	1	0	0	10024	1311	46	5	69	5	MYEF2	15	48435171	Nonsense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	378791	48435171	54096221	447	79269											
UNC13C	440279	broad.mit.edu	37	chr15	54786926	54786926	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggatgctgttcctgaatActccttgtaagtagtgattt	9	7	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr15:54786926A>C	uc002ack.2	+	18	5054	c.5054A>C	c.(5053-5055)TAC>TCC	p.Y1685S		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1685	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTTCCTGAATACTCCTTGTAA	0.353													C	54786926	A	C	54786926	3	2	136	1	0	0	0	0	1	0	0	0	16983	391	14	5	5124	5	UNC13C	15	54786926	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	6351755	54786926	47744466	448	79270											
BBS4	585	broad.mit.edu	37	chr15	73029293	73029293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcagctgcatacaggaCgctcccctcaggtaggacca	10	14	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr15:73029293C>T	uc002avb.2	+	15	1482	c.1439C>T	c.(1438-1440)ACG>ATG	p.T480M	BBS4_uc010ukv.1_Missense_Mutation_p.T468M|BBS4_uc002avc.2_Missense_Mutation_p.T308M|BBS4_uc002avd.2_Missense_Mutation_p.T488M	NM_033028	NP_149017	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	480	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity				0						GCATACAGGACGCTCCCCTCA	0.522									Bardet-Biedl_syndrome				T	73029293	C	T	73029293	3	4	136	1	0	0	0	0	1	0	0	0	1339	536	19	1	1497	1	BBS4	15	73029293	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	18242367	73029293	29502099	449	79271											
CPEB1	64506	broad.mit.edu	37	chr15	83221347	83221347	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggacagacttctctagttcGaagaccagatacacataccc	7	13	1	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr15:83221347G>A	uc002bit.2	-	8	1415	c.1278C>T	c.(1276-1278)TTC>TTT	p.F426F	CPEB1_uc002biq.2_Silent_p.F286F|CPEB1_uc002bir.2_Silent_p.F291F|CPEB1_uc002bis.2_Silent_p.F286F|CPEB1_uc010uod.1_Silent_p.F135F|CPEB1_uc010uoe.1_Silent_p.F364F|CPEB1_uc002biu.2_Silent_p.F388F|CPEB1_uc010uof.1_Silent_p.F286F|CPEB1_uc002biv.2_Silent_p.F361F|CPEB1_uc002bip.2_Silent_p.F135F	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	366	RRM 1.|Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)			TCTCTAGTTCGAAGACCAGAT	0.493													A	83221347	G	A	83221347	2	1	136	1	0	0	0	0	0	0	0	1	3800	1049	37	1		1	CPEB1	15	83221347	Silent	SNP	G	TCGA-CD-5801-01A-11D-1600-08	10192054	83221347	19310045	450	79272											
AGBL1	123624	broad.mit.edu	37	chr15	87531292	87531292	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccattacaaactttttcaAgatgaaccttcttctgcatg	5	10	3	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr15:87531292A>C	uc002blz.1	+	23	3238	c.3158A>C	c.(3157-3159)AAG>ACG	p.K1053T		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1053					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						aactttttcaagatgaacctt	0.045													C	87531292	A	C	87531292	3	2	136	1	0	0	0	0	1	0	0	0	375	72	3	5	3244	5	AGBL1	15	87531292	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	4309945	87531292	15000100	451	79273											
WDR93	56964	broad.mit.edu	37	chr15	90244983	90244983	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaccttctgtgatgtcAttcccaagaggaagtcagac	10	11	3	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr15:90244983A>C	uc002boj.2	+	2	107	c.6A>C	c.(4-6)TCA>TCC	p.S2S	WDR93_uc002bok.3_Silent_p.S2S|WDR93_uc010bnr.2_Silent_p.S2S	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	2					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			ovary(2)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CTGTGATGTCATTCCCAAGAG	0.458													C	90244983	A	C	90244983	2	2	136	1	0	0	0	0	0	0	0	1	17337	204	8	5		5	WDR93	15	90244983	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	2713691	90244983	12286409	452	79274											
IFT140	9742	broad.mit.edu	37	chr16	1574665	1574665	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaggtggtaggaggccgccAggtttcctgtctcgttggct	16	10	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr16:1574665A>C	uc002cmb.2	-	24	3391	c.3029T>G	c.(3028-3030)CTG>CGG	p.L1010R	IFT140_uc002clz.2_Missense_Mutation_p.L623R	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1010	TPR 5.									ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)				GGAGGCCGCCAGGTTTCCTGT	0.622													C	1574665	A	C	1574665	3	2	136	1	0	0	0	0	1	0	0	0	7556	188	7	5	1391	5	IFT140	16	1574665	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08		1574665	88780088	453	79275											
TRAF7	84231	broad.mit.edu	37	chr16	2222327	2222327	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggaagccccccatctttgAggtggacccccgagggtgcc	14	15	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr16:2222327A>C	uc002cow.2	+	8	710	c.611A>C	c.(610-612)GAG>GCG	p.E204A		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	204					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						CCCATCTTTGAGGTGGACCCC	0.677													C	2222327	A	C	2222327	3	2	136	1	0	0	0	0	1	0	0	0	16443	304	11	5	637	5	TRAF7	16	2222327	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	647662	2222327	88132426	454	79276											
ADCY9	115	broad.mit.edu	37	chr16	4016903	4016903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgagaaccacctcctggcCgatgaggctggcgggccgcc	15	15	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr16:4016903C>T	uc002cvx.2	-	11	3474	c.2935G>A	c.(2935-2937)GGC>AGC	p.G979S		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	979	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						ACCTCCTGGCCGATGAGGCTG	0.582													T	4016903	C	T	4016903	3	4	136	1	0	0	0	0	1	0	0	0	301	652	23	1	1130	1	ADCY9	16	4016903	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	1794576	4016903	86337850	455	79277											
TNP2	7142	broad.mit.edu	37	chr16	11362947	11362947	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agctgtgggctccagttgggTtgcggtggctggccgggctc	19	10	0	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr16:11362947T>A	uc002das.2	-	1	214	c.173A>T	c.(172-174)AAC>ATC	p.N58I	C16orf75_uc002daq.1_Intron	NM_005425	NP_005416	Q05952	STP2_HUMAN	transition protein 2 (during histone to	58					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding				0						TCCAGTTGGGTTGCGGTGGCT	0.612													A	11362947	T	A	11362947	3	1	136	1	0	0	0	0	1	0	0	0	16331	1725	60	5	251	5	TNP2	16	11362947	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	7346044	11362947	78991806	456	79278											
TMC7	79905	broad.mit.edu	37	chr16	19041646	19041646	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccctggcgtatttgttaaGcacaatcgcctccctggccc	9	16	0	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr16:19041646G>T	uc002dfq.2	+	6	942	c.812G>T	c.(811-813)AGC>ATC	p.S271I	TMC7_uc010vao.1_Missense_Mutation_p.S271I|TMC7_uc002dfp.2_Missense_Mutation_p.S271I|TMC7_uc010vap.1_Missense_Mutation_p.S161I	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7 isoform a	271	Helical; (Potential).					integral to membrane				skin(2)|ovary(1)	3						TATTTGTTAAGCACAATCGCC	0.473													T	19041646	G	T	19041646	3	4	136	1	0	0	0	0	1	0	0	0	15987	971	34	5	834	5	TMC7	16	19041646	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	7678699	19041646	71313107	457	79279											
GTF3C1	2975	broad.mit.edu	37	chr16	27492434	27492434	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggagtgtgtctgggatttCaaggttagaattccttaggg	14	5	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr16:27492434C>T	uc002dov.1	-	27	4202	c.4162G>A	c.(4162-4164)GAA>AAA	p.E1388K	GTF3C1_uc002dou.2_Missense_Mutation_p.E1388K	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1388						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						TCTGGGATTTCAAGGTTAGAA	0.478													T	27492434	C	T	27492434	3	4	136	1	0	0	0	0	1	0	0	0	6872	835	29	4	2211	4	GTF3C1	16	27492434	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	8450788	27492434	62862319	458	79280											
SPN	6693	broad.mit.edu	37	chr16	29675643	29675643	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gactctctggagacctccacTgggaccactggaccccctgt	10	16	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr16:29675643T>A	uc002dtm.2	+	2	730	c.594T>A	c.(592-594)ACT>ACA	p.T198T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Silent_p.T198T|SPN_uc010bzd.2_RNA	NM_001030288	NP_001025459	P16150	LEUK_HUMAN	sialophorin precursor	198	Extracellular (Potential).				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)	2						AGACCTCCACTGGGACCACTG	0.572													A	29675643	T	A	29675643	2	1	136	1	0	0	0	0	0	0	0	1	15072	1567	55	5		5	SPN	16	29675643	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	2183209	29675643	60679110	459	79281											
MAZ	4150	broad.mit.edu	37	chr16	29818187	29818187	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcccgcttctttgcctcCcagggctgcgcccagagtcc	10	18	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr16:29818187C>T	uc002dty.2	+	1	333	c.165C>T	c.(163-165)TCC>TCT	p.S55S	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Silent_p.S32S|MAZ_uc010vdx.1_Silent_p.S32S|MAZ_uc002dtw.2_Silent_p.S55S|MAZ_uc002dtx.2_Silent_p.S55S|MAZ_uc010bzg.2_Silent_p.S55S|MAZ_uc002dtz.1_5'Flank|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank	NM_002383	NP_002374	P56270	MAZ_HUMAN	MYC-associated zinc finger protein isoform 1	55					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1						TCTTTGCCTCCCAGGGCTGCG	0.453													T	29818187	C	T	29818187	2	4	136	1	0	0	0	0	0	0	0	1	9340	610	22	4		4	MAZ	16	29818187	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	142544	29818187	60536566	460	79282											
NETO2	81831	broad.mit.edu	37	chr16	47143516	47143516	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccacagtgctgcaaaacTtggccttcaggttttcaata	9	10	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr16:47143516T>G	uc002eer.1	-	7	1146	c.761A>C	c.(760-762)AAG>ACG	p.K254T	NETO2_uc002eeq.1_Missense_Mutation_p.K27T|NETO2_uc010vgf.1_Missense_Mutation_p.K111T|NETO2_uc002ees.1_Missense_Mutation_p.K247T	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	neuropilin- and tolloid-like protein 2	254	Extracellular (Potential).|CUB 2.					integral to membrane	receptor activity				0		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				GCTGCAAAACTTGGCCTTCAG	0.423										HNSCC(25;0.065)			G	47143516	T	G	47143516	3	3	136	1	0	0	0	0	1	0	0	0	10340	1609	56	5	828	5	NETO2	16	47143516	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	17325329	47143516	43211237	461	79283											
CMIP	80790	broad.mit.edu	37	chr16	81641288	81641288	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acgattcctgggggaactgtCttactgcaggtaggagaaat	13	7	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr16:81641288C>T	uc002fgp.2	+	2	489	c.417C>T	c.(415-417)GTC>GTT	p.V139V	CMIP_uc002fgq.1_Silent_p.V45V|CMIP_uc010vnq.1_5'Flank	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	105	PH.					cytoplasm|nucleus					0						GGGGAACTGTCTTACTGCAGG	0.498													T	81641288	C	T	81641288	2	4	136	1	0	0	0	0	0	0	0	1	3578	900	32	4		4	CMIP	16	81641288	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	34497772	81641288	8713465	462	79284											
PLCG2	5336	broad.mit.edu	37	chr16	81944213	81944213	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactgacaacctcaccttcAgcagcatctatgccctcatc	5	16	4	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr16:81944213A>C	uc002fgt.2	+	18	1974	c.1822A>C	c.(1822-1824)AGC>CGC	p.S608R	PLCG2_uc010chg.1_Missense_Mutation_p.S608R	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	608	SH2 1.			TFSSI -> RFRRM (in Ref. 1; CAA32194/ AAA60112 and 3; AAQ76815).	intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						CCTCACCTTCAGCAGCATCTA	0.652													C	81944213	A	C	81944213	3	2	136	1	0	0	0	0	1	0	0	0	12036	188	7	5	1888	5	PLCG2	16	81944213	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	302925	81944213	8410540	463	79285											
USP10	9100	broad.mit.edu	37	chr16	84797843	84797843	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gattttgttcagactccaatCaccggcatttttggtggaca	9	9	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr16:84797843C>T	uc002fii.2	+	10	1948	c.1806C>T	c.(1804-1806)ATC>ATT	p.I602I	USP10_uc010voe.1_Silent_p.I606I|USP10_uc010vof.1_Silent_p.I164I|USP10_uc002fij.2_Silent_p.I128I	NM_005153	NP_005144	Q14694	UBP10_HUMAN	ubiquitin specific protease 10	602					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						AGACTCCAATCACCGGCATTT	0.488													T	84797843	C	T	84797843	2	4	136	1	0	0	0	0	0	0	0	1	17038	816	29	4		4	USP10	16	84797843	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	2853630	84797843	5556910	464	79286											
FBXO31	79791	broad.mit.edu	37	chr16	87369863	87369863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcctccctcagccacgtcCgaaactccttccaaaagaac	4	17	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr16:87369863C>T	uc002fjw.2	-	6	784	c.740G>A	c.(739-741)CGG>CAG	p.R247Q	FBXO31_uc010vot.1_Missense_Mutation_p.R75Q|FBXO31_uc002fjv.2_Missense_Mutation_p.R139Q	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	247					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CAGCCACGTCCGAAACTCCTT	0.547													T	87369863	C	T	87369863	3	4	136	1	0	0	0	0	1	0	0	0	5741	652	23	1	895	1	FBXO31	16	87369863	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	2572020	87369863	2984890	465	79287											
SMYD4	114826	broad.mit.edu	37	chr17	1703659	1703659	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgtggcaaaagacacccagTgtgagaagcagccctcccag	11	12	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:1703659T>A	uc002ftm.3	-	5	1197	c.1029A>T	c.(1027-1029)ACA>ACT	p.T343T	SMYD4_uc002ftn.1_Silent_p.T198T	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	343							zinc ion binding			skin(3)|kidney(2)	5						AGACACCCAGTGTGAGAAGCA	0.488													A	1703659	T	A	1703659	2	1	136	1	0	0	0	0	0	0	0	1	14824	1683	59	5		5	SMYD4	17	1703659	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08		1703659	79491551	466	79288											
OR1A1	8383	broad.mit.edu	37	chr17	3119805	3119805	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaatcgggacatgaaggcTgccctgcggaaactcttcaa	11	10	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:3119805T>C	uc010vrc.1	+	1	891	c.891T>C	c.(889-891)GCT>GCC	p.A297A		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A,	297	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						ACATGAAGGCTGCCCTGCGGA	0.438													C	3119805	T	C	3119805	2	2	136	1	0	0	0	0	0	0	0	1	10949	1567	55	3		3	OR1A1	17	3119805	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1416146	3119805	78075405	467	79289											
ALOX15	246	broad.mit.edu	37	chr17	4534935	4534935	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacgctgggccgcaggTactcgtagggcatgtccagc	13	15	0	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:4534935T>C	uc002fyh.2	-	14	1963	c.1949A>G	c.(1948-1950)TAC>TGC	p.Y650C	ALOX15_uc010vsd.1_Missense_Mutation_p.Y611C|ALOX15_uc010vse.1_Missense_Mutation_p.Y672C	NM_001140	NP_001131	P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	650	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			skin(3)|ovary(1)|lung(1)	5				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GGGCCGCAGGTACTCGTAGGG	0.567													C	4534935	T	C	4534935	3	2	136	1	0	0	0	0	1	0	0	0	538	1638	57	3	43	3	ALOX15	17	4534935	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1415130	4534935	76660275	468	79290											
NUP88	4927	broad.mit.edu	37	chr17	5308509	5308509	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcataaccatagttatcTtcagccgcaggatgcatggg	10	10	3	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:5308509T>G	uc002gbo.1	-	6	938	c.912A>C	c.(910-912)GAA>GAC	p.E304D	NUP88_uc010vsx.1_Missense_Mutation_p.E304D|NUP88_uc010cle.1_Missense_Mutation_p.E303D|NUP88_uc010vsy.1_Missense_Mutation_p.E304D	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	304					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1						CATAGTTATCTTCAGCCGCAG	0.443													G	5308509	T	G	5308509	3	3	136	1	0	0	0	0	1	0	0	0	10771	1606	56	5	1361	5	NUP88	17	5308509	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	773574	5308509	75886701	469	79291											
CLEC10A	10462	broad.mit.edu	37	chr17	6978394	6978394	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagtgactctcctggctggtCtgacccaggccagcctcgca	11	16	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:6978394C>T	uc002gek.2	-	9	1233	c.930G>A	c.(928-930)CAG>CAA	p.Q310Q	CLEC10A_uc002gej.2_Silent_p.Q286Q|CLEC10A_uc002gel.2_Silent_p.Q283Q|CLEC10A_uc010clv.1_3'UTR	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN	C-type lectin, superfamily member 14 isoform 1	310	Extracellular (Potential).				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding				0						CCTGGCTGGTCTGACCCAGGC	0.637													T	6978394	C	T	6978394	2	4	136	1	0	0	0	0	0	0	0	1	3495	912	32	4		4	CLEC10A	17	6978394	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	1669885	6978394	74216816	470	79292											
MYH10	4628	broad.mit.edu	37	chr17	8411923	8411923	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attcctgattttggccaagtTtttcgccttttcttcctctt	5	11	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:8411923T>G	uc002gll.2	-	24	3166	c.3070A>C	c.(3070-3072)AAC>CAC	p.N1024H	MYH10_uc002glm.2_Missense_Mutation_p.N1055H|MYH10_uc010cnx.2_Missense_Mutation_p.N1033H	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1024	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						TTGGCCAAGTTTTTCGCCTTT	0.423													G	8411923	T	G	8411923	3	3	136	1	0	0	0	0	1	0	0	0	10030	1841	64	5	2932	5	MYH10	17	8411923	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1433529	8411923	72783287	471	79293											
MYH13	8735	broad.mit.edu	37	chr17	10215260	10215260	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttctctcgcctcagtgtcTctaactggtccaccacctcc	6	17	3	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:10215260T>C	uc002gmk.1	-	32	4589	c.4499A>G	c.(4498-4500)GAG>GGG	p.E1500G		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1500	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						CCTCAGTGTCTCTAACTGGTC	0.542													C	10215260	T	C	10215260	3	2	136	1	0	0	0	0	1	0	0	0	10032	1551	54	3	1357	3	MYH13	17	10215260	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1803337	10215260	70979950	472	79294											
MED9	55090	broad.mit.edu	37	chr17	17394653	17394653	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctcaaaagcaagttccaGgagatgcgcaagctcatcag	10	12	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:17394653G>A	uc002grh.1	+	2	341	c.285G>A	c.(283-285)CAG>CAA	p.Q95Q		NM_018019	NP_060489	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	95					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding				0						GCAAGTTCCAGGAGATGCGCA	0.587													A	17394653	G	A	17394653	2	1	136	1	0	0	0	0	0	0	0	1	9454	991	35	4		4	MED9	17	17394653	Silent	SNP	G	TCGA-CD-5801-01A-11D-1600-08	7179393	17394653	63800557	473	79295											
LRRC48	83450	broad.mit.edu	37	chr17	17900913	17900913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaccaggagcagggcaaaCgcaagattgccaaattcgag	11	9	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:17900913C>T	uc010vxd.1	+	10	1343	c.964C>T	c.(964-966)CGC>TGC	p.R322C	LRRC48_uc002gsa.2_Missense_Mutation_p.R322C|LRRC48_uc010vxc.1_Missense_Mutation_p.R322C|LRRC48_uc002gsb.2_Missense_Mutation_p.R322C|LRRC48_uc010vxe.1_RNA	NM_001130090	NP_001123562	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48 isoform a	322						cytoplasm				pancreas(1)	1	all_neural(463;0.228)					GCAGGGCAAACGCAAGATTGC	0.567													T	17900913	C	T	17900913	3	4	136	1	0	0	0	0	1	0	0	0	9005	536	19	1	990	1	LRRC48	17	17900913	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	506260	17900913	63294297	474	79296											
CYTSB	92521	broad.mit.edu	37	chr17	20108508	20108508	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatacaaaagatggaagaAaaccaccatagcactgcaga	8	8	0	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:20108508A>C	uc002gwq.2	+	4	1291	c.1146A>C	c.(1144-1146)GAA>GAC	p.E382D	CYTSB_uc010cqx.2_Missense_Mutation_p.E382D|CYTSB_uc002gwr.2_Missense_Mutation_p.E382D|CYTSB_uc002gws.2_Missense_Mutation_p.E382D|CYTSB_uc002gwv.2_Missense_Mutation_p.E301D|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.E158D|CYTSB_uc002gwt.2_Missense_Mutation_p.E301D|CYTSB_uc002gwu.2_Missense_Mutation_p.E301D	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	382				E -> G (in Ref. 2; AAW29999/AAW30000/ AAW30002).		nucleus					0						AGATGGAAGAAAACCACCATA	0.438													C	20108508	A	C	20108508	3	2	136	1	0	0	0	0	1	0	0	0	4210	11	1	5	1200	5	CYTSB	17	20108508	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	2207595	20108508	61086702	475	79297											
PROCA1	147011	broad.mit.edu	37	chr17	27031404	27031404	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgatgacatgggagcaggTtgggcccgcgccccgggagc	17	13	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:27031404T>G	uc002hcb.3	-	4	486	c.283A>C	c.(283-285)ACC>CCC	p.T95P	PROCA1_uc010crv.2_Missense_Mutation_p.T21P|PROCA1_uc002hca.1_Missense_Mutation_p.T93P	NM_152465	NP_689678	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	121					lipid catabolic process		calcium ion binding|phospholipase A2 activity			ovary(1)	1	Lung NSC(42;0.00431)					TGGGAGCAGGTTGGGCCCGCG	0.642													G	27031404	T	G	27031404	3	3	136	1	0	0	0	0	1	0	0	0	12546	1725	60	5	741	5	PROCA1	17	27031404	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	6922896	27031404	54163806	476	79298											
CDK12	51755	broad.mit.edu	37	chr17	37627139	37627139	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttatttttccagtaggaaaTccatgaagtccagaagtaga	8	6	0	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:37627139T>G	uc010cvv.2	+	2	1640	c.1054T>G	c.(1054-1056)TCC>GCC	p.S352A	CDK12_uc010wef.1_Missense_Mutation_p.S351A|CDK12_uc002hrw.3_Missense_Mutation_p.S352A	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	352					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.S352F(1)		ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						CAGTAGGAAATCCATGAAGTC	0.353										TCGA Ovarian(9;0.13)			G	37627139	T	G	37627139	3	3	136	1	0	0	0	0	1	0	0	0	3128	1435	50	5	1060	5	CDK12	17	37627139	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	10595735	37627139	43568071	477	79299											
GRB7	2886	broad.mit.edu	37	chr17	37901697	37901697	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtgcctcagataatacccTggtggccatggacttctctg	10	11	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:37901697T>C	uc002hsr.2	+	11	1365	c.1115T>C	c.(1114-1116)CTG>CCG	p.L372P	GRB7_uc002hss.2_Missense_Mutation_p.L372P|GRB7_uc010cwc.2_Missense_Mutation_p.L372P|GRB7_uc002hst.2_Missense_Mutation_p.L372P	NM_005310	NP_005301	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	372					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GATAATACCCTGGTGGCCATG	0.622													C	37901697	T	C	37901697	3	2	136	1	0	0	0	0	1	0	0	0	6759	1580	55	3	1153	3	GRB7	17	37901697	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	274558	37901697	43293513	478	79300											
KRT40	125115	broad.mit.edu	37	chr17	39140420	39140420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgggatgtagcacaggtacCggggagacaagctgtttcca	14	9	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:39140420C>T	uc010cxh.1	-	3	267	c.106G>A	c.(106-108)GGT>AGT	p.G36S	KRT40_uc002hvq.1_RNA	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	type I hair keratin KA36	36	Head.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)				GCACAGGTACCGGGGAGACAA	0.572													T	39140420	C	T	39140420	3	4	136	1	0	0	0	0	1	0	0	0	8478	652	23	1	1217	1	KRT40	17	39140420	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	1238723	39140420	42054790	479	79301											
KRT34	3885	broad.mit.edu	37	chr17	39535633	39535633	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgggcctgcagctcgatcTccagggcgttgactgtgcgt	15	12	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:39535633T>C	uc002hwm.2	-	5	986	c.974A>G	c.(973-975)GAG>GGG	p.E325G		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	325	Rod.|Coil 2.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)				CAGCTCGATCTCCAGGGCGTT	0.607													C	39535633	T	C	39535633	3	2	136	1	0	0	0	0	1	0	0	0	8471	1551	54	3	348	3	KRT34	17	39535633	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	395213	39535633	41659577	480	79302											
RND2	8153	broad.mit.edu	37	chr17	41180175	41180175	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctggccacactgagggagcTgtccaagcagaggcttatcc	12	13	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:41180175T>A	uc002icn.2	+	4	505	c.398T>A	c.(397-399)CTG>CAG	p.L133Q		NM_005440	NP_005431	P52198	RND2_HUMAN	Rho family GTPase 2 precursor	133					small GTPase mediated signal transduction	acrosomal membrane	GTP binding|GTPase activity				0		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CTGAGGGAGCTGTCCAAGCAG	0.562													A	41180175	T	A	41180175	3	1	136	1	0	0	0	0	1	0	0	0	13420	1580	55	5	412	5	RND2	17	41180175	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1644542	41180175	40015035	481	79303											
SLC4A1	6521	broad.mit.edu	37	chr17	42338113	42338113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcctccagttgcacccagCgcgccgcctccatccatctc	6	21	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:42338113C>T	uc002igf.3	-	5	388	c.239G>A	c.(238-240)CGC>CAC	p.R80H	SLC4A1_uc002igg.3_Missense_Mutation_p.R80H	NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	80	Cytoplasmic.				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TTGCACCCAGCGCGCCGCCTC	0.617													T	42338113	C	T	42338113	3	4	136	1	0	0	0	0	1	0	0	0	14650	768	27	1	2560	1	SLC4A1	17	42338113	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	1157938	42338113	38857097	482	79304											
CCDC43	124808	broad.mit.edu	37	chr17	42756257	42756257	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccctctctgtgtccttttTttttccttttccttgcgctc	4	15	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:42756257T>G	uc002ihc.2	-	5	686	c.642A>C	c.(640-642)AAA>AAC	p.K214N	CCDC43_uc010czw.1_3'UTR	NM_144609	NP_653210	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43 isoform 1	214	Potential.										0		Prostate(33;0.0322)				GTGTCCTTTTTTTTTCCTTTT	0.473													G	42756257	T	G	42756257	3	3	136	1	0	0	0	0	1	0	0	0	2815	1838	64	5	36	5	CCDC43	17	42756257	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	418144	42756257	38438953	483	79305											
OSBPL7	114881	broad.mit.edu	37	chr17	45896428	45896428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggacatgaccgacagcCggacatcgatggagccatgg	14	10	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:45896428C>T	uc002ilx.1	-	5	496	c.293G>A	c.(292-294)CGG>CAG	p.R98Q	OSBPL7_uc002ilw.1_5'Flank	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	98	PH.				lipid transport		lipid binding				0						GACCGACAGCCGGACATCGAT	0.557													T	45896428	C	T	45896428	3	4	136	1	0	0	0	0	1	0	0	0	11282	652	23	1	2311	1	OSBPL7	17	45896428	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	3140171	45896428	35298782	484	79306											
SNX11	29916	broad.mit.edu	37	chr17	46189961	46189961	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattacagtgcgtgttcaggAcccccgagtgcagaatgagg	14	9	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:46189961A>G	uc002inf.1	+	4	422	c.68A>G	c.(67-69)GAC>GGC	p.D23G	SNX11_uc010wlg.1_Missense_Mutation_p.D15G|SNX11_uc010wlh.1_Missense_Mutation_p.D15G|SNX11_uc010wli.1_5'UTR|SNX11_uc010wlj.1_Intron|SNX11_uc002ing.1_Missense_Mutation_p.D23G|SNX11_uc002inh.1_Missense_Mutation_p.D23G	NM_152244	NP_689450	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	23	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding				0						CGTGTTCAGGACCCCCGAGTG	0.488													G	46189961	A	G	46189961	3	3	136	1	0	0	0	0	1	0	0	0	14882	275	10	3	74	3	SNX11	17	46189961	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	293533	46189961	35005249	485	79307											
HOXB1	3211	broad.mit.edu	37	chr17	46607133	46607133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccctccgggcccggctcaGgtacttgttgaaatggaact	11	13	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:46607133G>A	uc002ink.1	-	2	688	c.682C>T	c.(682-684)CTG>TTG	p.L228L		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	228	Homeobox.					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCCCGGCTCAGGTACTTGTTG	0.572													A	46607133	G	A	46607133	2	1	136	1	0	0	0	0	0	0	0	1	7299	991	35	4		4	HOXB1	17	46607133	Silent	SNP	G	TCGA-CD-5801-01A-11D-1600-08	417172	46607133	34588077	486	79308											
B4GALNT2	124872	broad.mit.edu	37	chr17	47241594	47241594	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccagaagcccctggaaaTtaaagacaatcacgtggagt	10	10	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:47241594T>C	uc002ion.2	+	8	1150	c.1091T>C	c.(1090-1092)ATT>ACT	p.I364T	B4GALNT2_uc010wlt.1_Missense_Mutation_p.I278T|B4GALNT2_uc010wlu.1_Missense_Mutation_p.I304T	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	364	Lumenal (Potential).				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2			all cancers(6;0.000316)			CCCCTGGAAATTAAAGACAAT	0.522													C	47241594	T	C	47241594	3	2	136	1	0	0	0	0	1	0	0	0	1267	1493	52	3	1139	3	B4GALNT2	17	47241594	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	634461	47241594	33953616	487	79309											
DLX3	1747	broad.mit.edu	37	chr17	48069187	48069187	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctccccgttcttgtagagTttcttgaacttggaacggcg	10	11	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:48069187T>G	uc002ipy.2	-	3	784	c.558A>C	c.(556-558)AAA>AAC	p.K186N		NM_005220	NP_005211	O60479	DLX3_HUMAN	distal-less homeobox 3	186	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TCTTGTAGAGTTTCTTGAACT	0.532													G	48069187	T	G	48069187	3	3	136	1	0	0	0	0	1	0	0	0	4572	1722	60	5	309	5	DLX3	17	48069187	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	827593	48069187	33126023	488	79310											
EPN3	55040	broad.mit.edu	37	chr17	48614290	48614290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accagggcgtcaacgtgcgcGagaaggtcaagcaggtgatg	16	9	2	2	rs141972412		TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:48614290G>A	uc002ira.3	+	2	808	c.373G>A	c.(373-375)GAG>AAG	p.E125K	EPN3_uc010wms.1_Missense_Mutation_p.E180K|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.E125K	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	epsin 3	125	ENTH.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			ovary(1)	1	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CAACGTGCGCGAGAAGGTCAA	0.637													A	48614290	G	A	48614290	3	1	136	1	0	0	0	0	1	0	0	0	5187	1059	37	1	375	1	EPN3	17	48614290	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	545103	48614290	32580920	489	79311											
MRC2	9902	broad.mit.edu	37	chr17	60741993	60741993	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtcagagtcaccccggcttGcaataccagcctccctgccc	9	18	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:60741993G>C	uc002jad.2	+	2	605	c.203G>C	c.(202-204)TGC>TCC	p.C68S	MRC2_uc002jac.2_Missense_Mutation_p.C68S	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	68	Extracellular (Potential).|Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						ACCCCGGCTTGCAATACCAGC	0.637													C	60741993	G	C	60741993	3	2	136	1	0	0	0	0	1	0	0	0	9758	1319	46	5	209	5	MRC2	17	60741993	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	12127703	60741993	20453217	490	79312											
ABCA5	23461	broad.mit.edu	37	chr17	67250625	67250625	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaagaataatctcctaAaaatacctatagaaacacaa	3	9	2	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:67250625A>C	uc002jif.2	-	31	5293	c.4075T>G	c.(4075-4077)TTA>GTA	p.L1359V	ABCA5_uc002jib.2_Missense_Mutation_p.L325V|ABCA5_uc002jic.2_Missense_Mutation_p.L582V|ABCA5_uc002jid.2_Missense_Mutation_p.L276V|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.L1359V	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	1359	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					TAATCTCCTAAAAATACCTAT	0.358													C	67250625	A	C	67250625	3	2	136	1	0	0	0	0	1	0	0	0	35	11	1	5	885	5	ABCA5	17	67250625	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	6508632	67250625	13944585	491	79313											
KCNJ16	3773	broad.mit.edu	37	chr17	68129047	68129047	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccgcaaagcagtagccaaAgataactttgagattttggt	10	7	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:68129047A>C	uc002jin.2	+	5	1305	c.819A>C	c.(817-819)AAA>AAC	p.K273N	KCNJ16_uc002jio.2_Missense_Mutation_p.K273N|KCNJ16_uc002jip.2_Missense_Mutation_p.K273N|KCNJ16_uc002jiq.2_Missense_Mutation_p.K305N	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel J16	273	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Breast(10;2.96e-09)					CAGTAGCCAAAGATAACTTTG	0.448													C	68129047	A	C	68129047	3	2	136	1	0	0	0	0	1	0	0	0	8050	69	3	5	821	5	KCNJ16	17	68129047	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	878422	68129047	13066163	492	79314											
EVPL	2125	broad.mit.edu	37	chr17	74005091	74005093	+	In_Frame_Del	DEL	CCT	CCT	-													tagctggcgccgccggcccaCctcctcatccaggctcccgc							TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:74005090_74005092ACCT>A	uc010wss.1	-	21	4488_4490	c.4260_4262AGGT>T	c.(4258-4263)gaggtg>gaTg	p.1420_1421EV>D	EVPL_uc002jqi.2_In_Frame_Del_p.1398_1399EV>D|EVPL_uc010wst.1_In_Frame_Del_p.868_869EV>D	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1398	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	p.G1421S(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCGCCGGCCCACCTCCTCATCCA	0.69													-	74005093	CCT	-	74005091	7	5	136	1	0	1	0	1	0	0	0	0	5292	507	18	0	1910	0	EVPL	17	74005091	In_Frame_Del	DEL	CCT	TCGA-CD-5801-01A-11D-1600-08	5876044	74005091	7190119	493	79315											
C1QTNF1	114897	broad.mit.edu	37	chr17	77043792	77043793	+	Missense_Mutation	DNP	GC	GC	AT													gtgggccggaagaagcccatGcacagcaaccactactacca							TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:77043792_77043793GC>AT	uc002jwp.2	+	4	808_809	c.468_469GC>AT	c.(466-471)ATGCAC>ATATAC	p.156_157MH>IY	C1QTNF1_uc002jwq.2_Missense_Mutation_p.74_75MH>IY|C1QTNF1_uc002jwr.3_Missense_Mutation_p.166_167MH>IY|C1QTNF1_uc002jws.2_Missense_Mutation_p.156_157MH>IY|C1QTNF1_uc002jwt.2_Missense_Mutation_p.254_255MH>IY	NM_030968	NP_112230	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	156_157	C1q.					collagen				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			AGAAGCCCATGCACAGCAACCA	0.599													AT	77043793	GC	AT	77043792	3	1	136	1	0	0	0	0	1	0	0	0	1962	1319	46	2	478	2	C1QTNF1	17	77043792	Missense_Mutation	DNP	GC	TCGA-CD-5801-01A-11D-1600-08	3038701	77043792	4151418	494	79316											
RNF213	57674	broad.mit.edu	37	chr17	78324165	78324165	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agacagattttgaagatggaAtccgtagcgcccagctcatt	10	9	1	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr17:78324165A>T	uc002jyh.1	+	6	4595	c.4372A>T	c.(4372-4374)ATC>TTC	p.I1458F		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGAAGATGGAATCCGTAGCGC	0.353													T	78324165	A	T	78324165	3	4	136	1	0	0	0	0	1	0	0	0	13477	101	4	5	10590	5	RNF213	17	78324165	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	1280373	78324165	2871045	495	79317											
MAPRE2	10982	broad.mit.edu	37	chr18	32707044	32707044	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgcaggtcatacagcttaAtgaacaggtaatgcatcagc	9	9	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr18:32707044A>C	uc002kyg.2	+	5	923	c.743A>C	c.(742-744)AAT>ACT	p.N248T	MAPRE2_uc010xcb.1_Missense_Mutation_p.N205T|MAPRE2_uc010xcc.1_Missense_Mutation_p.N236T|MAPRE2_uc002kyf.2_Missense_Mutation_p.N248T|MAPRE2_uc002kyh.2_Missense_Mutation_p.N195T|MAPRE2_uc010xcd.1_Missense_Mutation_p.N205T	NM_014268	NP_055083	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family,	248	DCTN1-binding.|EB1 C-terminal.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			ovary(1)	1						ATACAGCTTAATGAACAGGTA	0.527													C	32707044	A	C	32707044	3	2	136	1	0	0	0	0	1	0	0	0	9295	101	4	5	855	5	MAPRE2	18	32707044	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08		32707044	45370204	496	79318											
ZNF532	55205	broad.mit.edu	37	chr18	56587298	56587298	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgagcagtgtcaatccAgtccctgtttacatcccaaa	8	12	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr18:56587298A>G	uc002lho.2	+	4	2326	c.1779A>G	c.(1777-1779)CCA>CCG	p.P593P	ZNF532_uc002lhp.2_Silent_p.P591P|ZNF532_uc010xeg.1_Silent_p.P591P|ZNF532_uc002lhr.2_Silent_p.P591P|ZNF532_uc002lhs.2_Silent_p.P591P	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	593					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						GTGTCAATCCAGTCCCTGTTT	0.557													G	56587298	A	G	56587298	2	3	136	1	0	0	0	0	0	0	0	1	17969	175	7	3		3	ZNF532	18	56587298	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	23880254	56587298	21489950	497	79319											
ZNF407	55628	broad.mit.edu	37	chr18	72344603	72344603	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctacaaataggacagattTggaaatccatgtgaaaaggt	10	5	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr18:72344603T>C	uc002llw.2	+	1	1685	c.1628T>C	c.(1627-1629)TTG>TCG	p.L543S	ZNF407_uc010xfc.1_Missense_Mutation_p.L543S|ZNF407_uc010dqu.1_Missense_Mutation_p.L543S|ZNF407_uc002llu.2_Missense_Mutation_p.L542S	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	543	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGGACAGATTTGGAAATCCAT	0.463													C	72344603	T	C	72344603	3	2	136	1	0	0	0	0	1	0	0	0	17884	1821	63	3	1630	3	ZNF407	18	72344603	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	15757305	72344603	5732645	498	79320											
JSRP1	126306	broad.mit.edu	37	chr19	2252554	2252554	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttccgcggcctctctttcTtaggtctctcctccttccgc	6	18	3	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:2252554T>G	uc002lvi.1	-	6	805	c.770A>C	c.(769-771)AAG>ACG	p.K257T	JSRP1_uc002lvj.1_Missense_Mutation_p.K257T	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	257	Arg-rich.					sarcoplasmic reticulum membrane				pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCTCTTTCTTAGGTCTCTC	0.706													G	2252554	T	G	2252554	3	3	136	1	0	0	0	0	1	0	0	0	7966	1609	56	5	229	5	JSRP1	19	2252554	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08		2252554	56876429	499	79321											
SPPL2B	56928	broad.mit.edu	37	chr19	2337467	2337467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcagctgcgcaactggaCggcctccctgctctgctccg	11	18	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:2337467C>T	uc002lvs.2	+	3	292	c.212C>T	c.(211-213)ACG>ATG	p.T71M	SPPL2B_uc010dsw.1_Missense_Mutation_p.T43M|SPPL2B_uc010dsy.1_Missense_Mutation_p.T43M|SPPL2B_uc010dsz.1_Missense_Mutation_p.T71M|SPPL2B_uc002lvr.2_Missense_Mutation_p.T71M|SPPL2B_uc010dta.1_5'Flank|SPPL2B_uc002lvu.2_5'Flank	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	signal peptide peptidase-like 2B isoform 2	71	Cytoplasmic (Potential).|PA.					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCAACTGGACGGCCTCCCTG	0.642													T	2337467	C	T	2337467	3	4	136	1	0	0	0	0	1	0	0	0	15088	536	19	1	222	1	SPPL2B	19	2337467	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	84913	2337467	56791516	500	79322											
MAP2K2	5605	broad.mit.edu	37	chr19	4117551	4117551	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggctttctgggtgagaaAggcttccagccgcttcttct	11	11	3	1	rs121434498		TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:4117551A>C	uc002lzk.2	-	2	423	c.169T>G	c.(169-171)TTT>GTT	p.F57V		NM_030662	NP_109587	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	57			F -> C (in CFC syndrome).		activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGTGAGAAAGGCTTCCAGC	0.597									Cardiofaciocutaneous_syndrome				C	4117551	A	C	4117551	3	2	136	1	0	0	0	0	1	0	0	0	9237	72	3	5	1073	5	MAP2K2	19	4117551	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	1780084	4117551	55011432	501	79323											
KDM4B	23030	broad.mit.edu	37	chr19	5135478	5135478	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcttcacctctggcggtgaGaacacggagccgctgcctgc	13	14	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:5135478G>A	uc002mbq.3	+	15	2440	c.2214G>A	c.(2212-2214)GAG>GAA	p.E738E	KDM4B_uc010xim.1_Silent_p.E772E|KDM4B_uc002mbr.3_Silent_p.E496E	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	738	PHD-type 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						CTGGCGGTGAGAACACGGAGC	0.637													A	5135478	G	A	5135478	2	1	136	1	0	0	0	0	0	0	0	1	8129	933	33	4		4	KDM4B	19	5135478	Silent	SNP	G	TCGA-CD-5801-01A-11D-1600-08	1017927	5135478	53993505	502	79324											
PTPRS	5802	broad.mit.edu	37	chr19	5244113	5244113	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagacgcggtagccgcggaTcaggccgttgggctccaccg	16	13	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:5244113T>C	uc002mbv.2	-	11	1603	c.1369A>G	c.(1369-1371)ATC>GTC	p.I457V	PTPRS_uc002mbu.1_Missense_Mutation_p.I444V|PTPRS_uc010xin.1_Missense_Mutation_p.I444V|PTPRS_uc002mbw.2_Missense_Mutation_p.I444V|PTPRS_uc002mbx.2_Missense_Mutation_p.I448V|PTPRS_uc002mby.2_Missense_Mutation_p.I444V	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	457	Extracellular (Potential).|Fibronectin type-III 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TAGCCGCGGATCAGGCCGTTG	0.682													C	5244113	T	C	5244113	3	2	136	1	0	0	0	0	1	0	0	0	12811	1435	50	3	4589	3	PTPRS	19	5244113	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	108635	5244113	53884870	503	79325											
FBN3	84467	broad.mit.edu	37	chr19	8167646	8167646	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcctcacagggtctattcCaggcctggccaatgttgtag	12	11	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:8167646C>T	uc002mjf.2	-	39	5072	c.5051G>A	c.(5050-5052)TGG>TAG	p.W1684*		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1684	TB 7.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GGGTCTATTCCAGGCCTGGCC	0.542													T	8167646	C	T	8167646	4	4	136	1	0	0	0	0	0	1	0	0	5704	595	21	4	3478	4	FBN3	19	8167646	Nonsense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	2923533	8167646	50961337	504	79326											
FBN3	84467	broad.mit.edu	37	chr19	8196690	8196690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccgttcacgcagatgcCgggcgtctggcactcgtcaa	14	13	3	1	rs143761441		TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:8196690C>T	uc002mjf.2	-	14	1759	c.1738G>A	c.(1738-1740)GGC>AGC	p.G580S		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	580	EGF-like 7; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						ACGCAGATGCCGGGCGTCTGG	0.552													T	8196690	C	T	8196690	3	4	136	1	0	0	0	0	1	0	0	0	5704	652	23	1	6891	1	FBN3	19	8196690	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	29044	8196690	50932293	505	79327											
MUC16	94025	broad.mit.edu	37	chr19	9048508	9048508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagtgaccagagaggtcacCactcctggtacctcaggtga	11	12	2	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:9048508C>T	uc002mkp.2	-	5	33327	c.33123G>A	c.(33121-33123)GTG>GTA	p.V11041V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11043	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GAGAGGTCACCACTCCTGGTA	0.488													T	9048508	C	T	9048508	2	4	136	1	0	0	0	0	0	0	0	1	9973	581	21	4		4	MUC16	19	9048508	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	851818	9048508	50080475	506	79328											
MUC16	94025	broad.mit.edu	37	chr19	9069337	9069337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctttggaggtgtgtgtcCggatggctgggagtggattg	18	5	0	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:9069337C>T	uc002mkp.2	-	3	18313	c.18109G>A	c.(18109-18111)GGA>AGA	p.G6037R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6039	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGTGTGTGTCCGGATGGCTGG	0.448													T	9069337	C	T	9069337	3	4	136	1	0	0	0	0	1	0	0	0	9973	661	23	1	25742	1	MUC16	19	9069337	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	20829	9069337	50059646	507	79329											
MUC16	94025	broad.mit.edu	37	chr19	9076788	9076788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacttctgggttgggtgtgGtagttgagattgagttggtt	16	4	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:9076788G>A	uc002mkp.2	-	3	10862	c.10658C>T	c.(10657-10659)ACC>ATC	p.T3553I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3554	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTTGGGTGTGGTAGTTGAGAT	0.547													A	9076788	G	A	9076788	3	1	136	1	0	0	0	0	1	0	0	0	9973	1261	44	4	33193	4	MUC16	19	9076788	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	7451	9076788	50052195	508	79330											
MUC16	94025	broad.mit.edu	37	chr19	9086693	9086693	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctgtgactccttcagtagTtgactcagaaaggacagagg	11	8	3	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:9086693T>G	uc002mkp.2	-	1	5326	c.5122A>C	c.(5122-5124)ACT>CCT	p.T1708P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1708	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCTTCAGTAGTTGACTCAGAA	0.488													G	9086693	T	G	9086693	3	3	136	1	0	0	0	0	1	0	0	0	9973	1725	60	5	38737	5	MUC16	19	9086693	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	9905	9086693	50042290	509	79331											
MUC16	94025	broad.mit.edu	37	chr19	9090185	9090185	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggggtctctctgtttTcatgctaggacttgtctcca	11	10	4	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:9090185T>C	uc002mkp.2	-	1	1834	c.1630A>G	c.(1630-1632)AAA>GAA	p.K544E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	544	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTCTCTGTTTTCATGCTAGGA	0.532													C	9090185	T	C	9090185	3	2	136	1	0	0	0	0	1	0	0	0	9973	1792	62	3	42229	3	MUC16	19	9090185	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	3492	9090185	50038798	510	79332											
ZNF560	147741	broad.mit.edu	37	chr19	9577597	9577597	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctctgctgcatgagtttTtaagtgttgagttagtacac	9	7	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:9577597T>G	uc002mlp.1	-	10	2236	c.2026A>C	c.(2026-2028)AAA>CAA	p.K676Q	ZNF560_uc010dwr.1_Missense_Mutation_p.K570Q	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	676	C2H2-type 12.				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						GCATGAGTTTTTAAGTGTTGA	0.358													G	9577597	T	G	9577597	3	3	136	1	0	0	0	0	1	0	0	0	17988	1850	64	5	350	5	ZNF560	19	9577597	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	487412	9577597	49551386	511	79333											
ZNF846	162993	broad.mit.edu	37	chr19	9868802	9868802	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggatctagtgaaggcTtttccacattccatacatac	7	11	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:9868802T>C	uc002mmb.1	-	6	1482	c.951A>G	c.(949-951)AAA>AAG	p.K317K	ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Silent_p.K188K|ZNF846_uc002mmc.1_Silent_p.K188K	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	317	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TAGTGAAGGCTTTTCCACATT	0.398													C	9868802	T	C	9868802	2	2	136	1	0	0	0	0	0	0	0	1	18189	1606	56	3		3	ZNF846	19	9868802	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	291205	9868802	49260181	512	79334											
OLFM2	93145	broad.mit.edu	37	chr19	9967528	9967528	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtcagtcatccaggagccGaagcgggaccccatggcccg	14	14	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:9967528G>A	uc002mmp.2	-	5	670	c.642C>T	c.(640-642)TTC>TTT	p.F214F	OLFM2_uc002mmo.2_Silent_p.F136F	NM_058164	NP_477512	O95897	NOE2_HUMAN	olfactomedin 2 precursor	214	Olfactomedin-like.					extracellular region				large_intestine(1)|skin(1)	2						TCCAGGAGCCGAAGCGGGACC	0.652													A	9967528	G	A	9967528	2	1	136	1	0	0	0	0	0	0	0	1	10853	1049	37	1		1	OLFM2	19	9967528	Silent	SNP	G	TCGA-CD-5801-01A-11D-1600-08	98726	9967528	49161455	513	79335											
DNM2	1785	broad.mit.edu	37	chr19	10908118	10908118	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaacagattgtaaaacTcaaagagccgagtttgaagt	9	5	1	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:10908118T>C	uc002mps.1	+	10	1423	c.1259T>C	c.(1258-1260)CTC>CCC	p.L420P	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Intron|DNM2_uc002mpv.1_Missense_Mutation_p.L420P|DNM2_uc002mpu.1_Intron|DNM2_uc010dxl.1_Intron|DNM2_uc002mpw.2_Missense_Mutation_p.L153P	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	420					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			ATTGTAAAACTCAAAGAGCCG	0.502													C	10908118	T	C	10908118	3	2	136	1	0	0	0	0	1	0	0	0	4672	1551	54	3	1440	3	DNM2	19	10908118	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	940590	10908118	48220865	514	79336											
ZNF823	55552	broad.mit.edu	37	chr19	11832957	11832957	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatggcttctctccagtgtgAgttgtctcatgattttgaaa	9	7	2	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:11832957A>G	uc002msm.2	-	4	1518	c.1392T>C	c.(1390-1392)ACT>ACC	p.T464T	ZNF823_uc010xmd.1_Silent_p.T282T|ZNF823_uc010dyi.1_Silent_p.T420T	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	ZFP-36 for a zinc finger protein	464	C2H2-type 11; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CTCCAGTGTGAGTTGTCTCAT	0.403										HNSCC(68;0.2)			G	11832957	A	G	11832957	2	3	136	1	0	0	0	0	0	0	0	1	18176	291	11	3		3	ZNF823	19	11832957	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	924839	11832957	47296026	515	79337											
ZNF20	7568	broad.mit.edu	37	chr19	12246374	12246374	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaactttccatgttttTcctaaaacacagacccggag	6	11	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:12246374T>C	uc002mtf.1	-	3	284	c.141A>G	c.(139-141)GGA>GGG	p.G47G	ZNF20_uc002mte.1_Silent_p.G12G|ZNF20_uc002mtg.1_Silent_p.G47G	NM_021143	NP_066966	P17024	ZNF20_HUMAN	zinc finger protein 20	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCCATGTTTTTCCTAAAACAC	0.358													C	12246374	T	C	12246374	2	2	136	1	0	0	0	0	0	0	0	1	17758	1797	62	3		3	ZNF20	19	12246374	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	413417	12246374	46882609	516	79338											
ZNF564	163050	broad.mit.edu	37	chr19	12637395	12637395	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taactgaacgtttttccacaTtgcttacattcatagggttt	6	8	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:12637395T>G	uc002mty.2	-	4	1737	c.1527A>C	c.(1525-1527)CAA>CAC	p.Q509H	ZNF709_uc002mtx.3_Intron	NM_144976	NP_659413	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	509	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTTTTCCACATTGCTTACATT	0.353													G	12637395	T	G	12637395	3	3	136	1	0	0	0	0	1	0	0	0	17992	1490	52	5	138	5	ZNF564	19	12637395	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	391021	12637395	46491588	517	79339											
DDX39	10212	broad.mit.edu	37	chr19	14521953	14521953	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaacacttcttcatccttcTtgatggagagaccaccgaag	7	12	4	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:14521953T>A	uc010xnp.1	-	5	506	c.461A>T	c.(460-462)AAG>ATG	p.K154M	DDX39_uc002myo.2_Missense_Mutation_p.K154M|DDX39_uc010dzl.2_RNA|DDX39_uc010dzm.1_Missense_Mutation_p.K154M	NM_005804	NP_005795	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39	154	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding				0						TTCATCCTTCTTGATGGAGAG	0.587													A	14521953	T	A	14521953	3	1	136	1	0	0	0	0	1	0	0	0	4357	1609	56	5	850	5	DDX39	19	14521953	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1884558	14521953	44607030	518	79340											
EMR3	84658	broad.mit.edu	37	chr19	14758024	14758024	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagtcagcgtcacagacTtggagagagacacgttcctt	12	9	2	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:14758024T>C	uc002mzi.3	-	8	999	c.851A>G	c.(850-852)AAG>AGG	p.K284R	EMR3_uc010dzp.2_Missense_Mutation_p.K232R|EMR3_uc010xnv.1_Missense_Mutation_p.K158R	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	egf-like module-containing mucin-like receptor	284	Extracellular (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(5)|skin(1)	6						CGTCACAGACTTGGAGAGAGA	0.468													C	14758024	T	C	14758024	3	2	136	1	0	0	0	0	1	0	0	0	5106	1609	56	3	1143	3	EMR3	19	14758024	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	236071	14758024	44370959	519	79341											
TSSK6	83983	broad.mit.edu	37	chr19	19625642	19625642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgacgtagagcacgacgcCcatgctccacacatcgtact	8	15	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:19625642C>T	uc002nmr.2	-	1	828	c.595G>A	c.(595-597)GGC>AGC	p.G199S	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	199	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1						AGCACGACGCCCATGCTCCAC	0.657													T	19625642	C	T	19625642	3	4	136	1	0	0	0	0	1	0	0	0	16669	623	22	4	230	4	TSSK6	19	19625642	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	4867618	19625642	39503341	520	79342											
ZNF14	7561	broad.mit.edu	37	chr19	19822523	19822523	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttatttccagtgtgaatttTttcatgttctcgaagggaac	8	7	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:19822523T>G	uc002nnk.1	-	4	1721	c.1567A>C	c.(1567-1569)AAA>CAA	p.K523Q		NM_021030	NP_066358	P17017	ZNF14_HUMAN	zinc finger protein 14	523	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Renal(1328;0.0474)				GTGTGAATTTTTTCATGTTCT	0.408													G	19822523	T	G	19822523	3	3	136	1	0	0	0	0	1	0	0	0	17725	1850	64	5	365	5	ZNF14	19	19822523	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	196881	19822523	39306460	521	79343											
ZNF43	7594	broad.mit.edu	37	chr19	21991547	21991547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagttaaaggctttgccaCattcttcacatttgtagggt	9	9	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:21991547C>T	uc002nqj.2	-	4	1422	c.1292G>A	c.(1291-1293)TGT>TAT	p.C431Y	ZNF43_uc010ecv.2_Missense_Mutation_p.C425Y|ZNF43_uc002nql.2_Missense_Mutation_p.C425Y|ZNF43_uc002nqm.2_Missense_Mutation_p.C425Y|ZNF43_uc002nqk.2_Missense_Mutation_p.C361Y	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	431	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GGCTTTGCCACATTCTTCACA	0.388													T	21991547	C	T	21991547	3	4	136	1	0	0	0	0	1	0	0	0	17900	478	17	4	1141	4	ZNF43	19	21991547	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	2169024	21991547	37137436	522	79344											
ZNF208	7757	broad.mit.edu	37	chr19	22156857	22156857	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccttatgtgtaataagggTtgagaccttactgaaggctt	11	6	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:22156857T>C	uc002nqp.2	-	4	1128	c.979A>G	c.(979-981)ACC>GCC	p.T327A	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTAATAAGGGTTGAGACCTTA	0.393													C	22156857	T	C	22156857	3	2	136	1	0	0	0	0	1	0	0	0	17763	1725	60	3	2867	3	ZNF208	19	22156857	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	165310	22156857	36972126	523	79345											
ZNF257	113835	broad.mit.edu	37	chr19	22270892	22270892	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatgagaatttacaattaAgaaagggctgtaaaagtgtg	10	3	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:22270892A>G	uc010ecx.2	+	4	509	c.340A>G	c.(340-342)AGA>GGA	p.R114G	ZNF257_uc010ecy.2_Missense_Mutation_p.R82G	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTACAATTAAGAAAGGGCTG	0.358													G	22270892	A	G	22270892	3	3	136	1	0	0	0	0	1	0	0	0	17797	64	3	3	354	3	ZNF257	19	22270892	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	114035	22270892	36858091	524	79346											
ZNF181	339318	broad.mit.edu	37	chr19	35232041	35232041	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttggcaaacagtcaatccTcaatcgccactggagaattc	7	12	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:35232041T>G	uc002nvu.3	+	4	1218	c.755T>G	c.(754-756)CTC>CGC	p.L252R	ZNF181_uc010xsa.1_Missense_Mutation_p.L251R|ZNF181_uc010xsb.1_Missense_Mutation_p.L251R|ZNF181_uc010xsc.1_Missense_Mutation_p.L187R	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	zinc finger protein 181 isoform 1	252	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CAGTCAATCCTCAATCGCCAC	0.448													G	35232041	T	G	35232041	3	3	136	1	0	0	0	0	1	0	0	0	17746	1551	54	5	769	5	ZNF181	19	35232041	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	12961149	35232041	23896942	525	79347											
FFAR1	2864	broad.mit.edu	37	chr19	35842879	35842879	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcacctgggtctggtctTtgggttggaggctccaggag	17	8	3	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:35842879T>G	uc002nzc.2	+	1	435	c.425T>G	c.(424-426)TTT>TGT	p.F142C		NM_005303	NP_005294	O14842	FFAR1_HUMAN	free fatty acid receptor 1	142	Helical; Name=4; (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)	1	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GGTCTGGTCTTTGGGTTGGAG	0.662													G	35842879	T	G	35842879	3	3	136	1	0	0	0	0	1	0	0	0	5827	1841	64	5	427	5	FFAR1	19	35842879	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	610838	35842879	23286104	526	79348											
ZNF585A	199704	broad.mit.edu	37	chr19	37642537	37642537	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaacactgatttctgaacgAagcctttcccacagatgcca	7	12	1	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:37642537A>C	uc002ofo.1	-	5	2495	c.2264T>G	c.(2263-2265)TTC>TGC	p.F755C	ZNF585A_uc002ofm.1_Missense_Mutation_p.F700C|ZNF585A_uc002ofn.1_Missense_Mutation_p.F700C	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	755	C2H2-type 22.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTCTGAACGAAGCCTTTCCC	0.488													C	37642537	A	C	37642537	3	2	136	1	0	0	0	0	1	0	0	0	18014	246	9	5	49	5	ZNF585A	19	37642537	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	1799658	37642537	21486446	527	79349											
ZNF780A	284323	broad.mit.edu	37	chr19	40580508	40580508	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttccacattccttacatTcaaagggtttctcaccagta	4	13	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:40580508T>C	uc002omy.2	-	6	2066	c.1841A>G	c.(1840-1842)GAA>GGA	p.E614G	ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.E614G|ZNF780A_uc010xvh.1_Missense_Mutation_p.E615G	NM_001010880	NP_001010880	O75290	Z780A_HUMAN	zinc finger protein 780A isoform b	614	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTCCTTACATTCAAAGGGTTT	0.418													C	40580508	T	C	40580508	3	2	136	1	0	0	0	0	1	0	0	0	18149	1783	62	3	215	3	ZNF780A	19	40580508	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	2937971	40580508	18548475	528	79350											
CYP2A13	1553	broad.mit.edu	37	chr19	41596320	41596320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacctgcaggcgccaatatcGatcccaccttcttcctgagc	7	17	1	1	rs146392271		TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:41596320G>A	uc002opt.2	+	4	514	c.505G>A	c.(505-507)GAT>AAT	p.D169N		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A,	169					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			ovary(2)|skin(1)	3					Clomipramine(DB01242)|Nicotine(DB00184)	CGCCAATATCGATCCCACCTT	0.552													A	41596320	G	A	41596320	3	1	136	1	0	0	0	0	1	0	0	0	4161	1058	37	1	519	1	CYP2A13	19	41596320	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	1015812	41596320	17532663	529	79351											
ZNF223	7766	broad.mit.edu	37	chr19	44564948	44564948	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccactttctaagggaggaAaagttttggatgatggatat	11	4	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:44564948A>C	uc002oyf.1	+	4	442	c.189A>C	c.(187-189)GAA>GAC	p.E63D	ZNF284_uc010ejd.2_RNA	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	63	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0352)				TAAGGGAGGAAAAGTTTTGGA	0.398													C	44564948	A	C	44564948	3	2	136	1	0	0	0	0	1	0	0	0	17774	11	1	5	199	5	ZNF223	19	44564948	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	2968628	44564948	14564035	530	79352											
ZNF225	7768	broad.mit.edu	37	chr19	44636097	44636097	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acaaaaggaggttggatcttGactttcatcagagggtccac	11	8	3	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:44636097G>A	uc002oyj.1	+	5	1573	c.1330G>A	c.(1330-1332)GAC>AAC	p.D444N	ZNF225_uc010eje.1_Missense_Mutation_p.D361N|ZNF225_uc010ejf.1_Missense_Mutation_p.D444N	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	444	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				GTTGGATCTTGACTTTCATCA	0.453													A	44636097	G	A	44636097	3	1	136	1	0	0	0	0	1	0	0	0	17776	1290	45	4	1344	4	ZNF225	19	44636097	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	71149	44636097	14492886	531	79353											
ZFP112	7771	broad.mit.edu	37	chr19	44833807	44833807	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgccctccaagatggaTacccttgactttttatataa	7	9	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:44833807T>G	uc010ejj.2	-	5	634	c.521A>C	c.(520-522)TAT>TCT	p.Y174S	ZFP112_uc002ozc.3_Missense_Mutation_p.Y168S|ZFP112_uc010xwy.1_Missense_Mutation_p.Y191S|ZFP112_uc010xwz.1_Missense_Mutation_p.Y173S	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN	zinc finger protein 228 isoform 1	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)	5						CCAAGATGGATACCCTTGACT	0.368													G	44833807	T	G	44833807	3	3	136	1	0	0	0	0	1	0	0	0	17635	1406	49	5	2224	5	ZFP112	19	44833807	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	197710	44833807	14295176	532	79354											
ZNF180	7733	broad.mit.edu	37	chr19	44981801	44981801	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattctttaaaatcaaaggtTtttcctcctccatgaatttt	3	9	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:44981801T>G	uc002ozf.3	-	5	1179	c.897A>C	c.(895-897)AAA>AAC	p.K299N	ZNF180_uc002ozh.3_5'UTR|ZNF180_uc002ozi.3_Missense_Mutation_p.K272N|ZNF180_uc002ozg.3_Missense_Mutation_p.K298N|ZNF180_uc010ejm.2_Missense_Mutation_p.K274N	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				AATCAAAGGTTTTTCCTCCTC	0.343													G	44981801	T	G	44981801	3	3	136	1	0	0	0	0	1	0	0	0	17745	1838	64	5	1185	5	ZNF180	19	44981801	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	147994	44981801	14147182	533	79355											
ZNF180	7733	broad.mit.edu	37	chr19	44982338	44982338	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctttgaagttgaatcTttttttccaactgcagttgc	7	9	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:44982338T>C	uc002ozf.3	-	5	642	c.360A>G	c.(358-360)AAA>AAG	p.K120K	ZNF180_uc002ozh.3_5'UTR|ZNF180_uc002ozi.3_Silent_p.K93K|ZNF180_uc002ozg.3_Silent_p.K119K|ZNF180_uc010ejm.2_Silent_p.K95K	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	120	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				AAGTTGAATCTTTTTTTCCAA	0.338													C	44982338	T	C	44982338	2	2	136	1	0	0	0	0	0	0	0	1	17745	1606	56	3		3	ZNF180	19	44982338	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	537	44982338	14146645	534	79356											
PNMAL1	55228	broad.mit.edu	37	chr19	46973452	46973452	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggctctgagatcgccatgcTttcagcatcacccacctcag	8	16	4	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:46973452T>G	uc002peq.3	-	2	1147	c.841A>C	c.(841-843)AGC>CGC	p.S281R	PNMAL1_uc002per.3_Missense_Mutation_p.S281R	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	PNMA-like 1 isoform a	281											0		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ATCGCCATGCTTTCAGCATCA	0.527													G	46973452	T	G	46973452	3	3	136	1	0	0	0	0	1	0	0	0	12157	1609	56	5	508	5	PNMAL1	19	46973452	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1991114	46973452	12155531	535	79357											
DHDH	27294	broad.mit.edu	37	chr19	49447725	49447725	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgacaacggggcaggcatgAgttatgaggccaagcacgtc	14	9	0	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:49447725A>T	uc002ple.1	+	6	896	c.856A>T	c.(856-858)AGT>TGT	p.S286C		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	dimeric dihydrodiol dehydrogenase	286					carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GGCAGGCATGAGTTATGAGGC	0.627													T	49447725	A	T	49447725	3	4	136	1	0	0	0	0	1	0	0	0	4479	304	11	5	878	5	DHDH	19	49447725	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	2474273	49447725	9681258	536	79358											
NR1H2	7376	broad.mit.edu	37	chr19	50881883	50881883	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcagggcagcagcagcTcagcctctgggcctggggct	17	14	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:50881883T>C	uc010enw.2	+	7	856	c.580T>C	c.(580-582)TCA>CCA	p.S194P	NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Missense_Mutation_p.S193P|NR1H2_uc002psa.3_Missense_Mutation_p.S96P	NM_007121	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	193	Poly-Ser.				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CAGCAGCAGCTCAGCCTCTGG	0.607													C	50881883	T	C	50881883	3	2	136	1	0	0	0	0	1	0	0	0	10617	1551	54	3	591	3	NR1H2	19	50881883	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	1434158	50881883	8247100	537	79359											
ZNF880	400713	broad.mit.edu	37	chr19	52888022	52888022	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaagttttgtctaaccAatcatcatagaatgcacacg	7	10	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:52888022A>G	uc002pzc.2	+	4	1238	c.1189A>G	c.(1189-1191)AAT>GAT	p.N397D		NM_001145434	NP_001138906	Q6PDB4	ZN880_HUMAN	zinc finger protein LOC400713	397	C2H2-type 8.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0						TTGTCTAACCAATCATCATAG	0.403													G	52888022	A	G	52888022	3	3	136	1	0	0	0	0	1	0	0	0	18194	130	5	3	1203	3	ZNF880	19	52888022	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	2006139	52888022	6240961	538	79360											
ZNF808	388558	broad.mit.edu	37	chr19	53057134	53057134	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagtgtaatgagtgtggcaAggtctttcgtcaaaattcag	11	6	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:53057134A>C	uc010epq.1	+	5	1142	c.965A>C	c.(964-966)AAG>ACG	p.K322T	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	322	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GAGTGTGGCAAGGTCTTTCGT	0.383													C	53057134	A	C	53057134	3	2	136	1	0	0	0	0	1	0	0	0	18170	72	3	5	975	5	ZNF808	19	53057134	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	169112	53057134	6071849	539	79361											
ZNF160	90338	broad.mit.edu	37	chr19	53571418	53571418	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgccacactcattacatTtgtaacgcttttctccagtg	5	13	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:53571418T>G	uc010eqk.2	-	7	2785	c.2369A>C	c.(2368-2370)AAA>ACA	p.K790T	ZNF160_uc002qaq.3_Missense_Mutation_p.K790T|ZNF160_uc002qar.3_Missense_Mutation_p.K790T	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	790	C2H2-type 20.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(134;0.02)		CTCATTACATTTGTAACGCTT	0.448													G	53571418	T	G	53571418	3	3	136	1	0	0	0	0	1	0	0	0	17736	1841	64	5	91	5	ZNF160	19	53571418	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	514284	53571418	5557565	540	79362											
ZNF677	342926	broad.mit.edu	37	chr19	53741755	53741755	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcaccagatggtataattcCtctttattattttcctttgg	5	8	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:53741755C>A	uc002qbf.1	-	5	410	c.225G>T	c.(223-225)GAG>GAT	p.E75D	ZNF677_uc002qbg.1_Missense_Mutation_p.E75D	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)		GGTATAATTCCTCTTTATTAT	0.348													A	53741755	C	A	53741755	3	1	136	1	0	0	0	0	1	0	0	0	18081	680	24	5	1533	5	ZNF677	19	53741755	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	170337	53741755	5387228	541	79363											
PRPF31	26121	broad.mit.edu	37	chr19	54627955	54627955	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggggcccagcgcaagacgCtgtcgggcttctcgtctacc	13	15	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:54627955C>T	uc002qdh.2	+	8	1171	c.775C>T	c.(775-777)CTG>TTG	p.L259L	PRPF31_uc010yek.1_Silent_p.L259L	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31 homolog	259	Nop.				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			ovary(1)	1	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCGCAAGACGCTGTCGGGCTT	0.652													T	54627955	C	T	54627955	2	4	136	1	0	0	0	0	0	0	0	1	12566	796	28	2		2	PRPF31	19	54627955	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	886200	54627955	4501028	542	79364											
KIR3DL1	3811	broad.mit.edu	37	chr19	55341674	55341674	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caccccctacagataccatcTtgtacacggaacttccaaat	4	15	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:55341674T>G	uc002qhk.3	+	9	1342	c.1279T>G	c.(1279-1281)TTG>GTG	p.L427V	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.L352V|KIR3DL1_uc010esf.2_Missense_Mutation_p.L332V|KIR3DL1_uc010yfo.1_Missense_Mutation_p.L369V|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_5'Flank|KIR2DS4_uc002qhm.1_5'Flank	NM_013289	NP_037421	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three	427	Cytoplasmic (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5				GBM - Glioblastoma multiforme(193;0.0192)		AGATACCATCTTGTACACGGA	0.512													G	55341674	T	G	55341674	3	3	136	1	0	0	0	0	1	0	0	0	8320	1606	56	5	1313	5	KIR3DL1	19	55341674	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	713719	55341674	3787309	543	79365											
KIR2DS4	3809	broad.mit.edu	37	chr19	55349282	55349282	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acggttctgttcctcactccCcctatcagttgtcagctccc	6	17	4	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:55349282C>A	uc002qhm.1	+	3	368	c.322C>A	c.(322-324)CCC>ACC	p.P108T	KIR2DS4_uc010yfj.1_Missense_Mutation_p.P101T|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Missense_Mutation_p.P108T|KIR2DS4_uc002qhn.1_Missense_Mutation_p.P55T	NM_012314	NP_036446	P43632	KI2S4_HUMAN	killer cell immunoglobulin-like receptor, two	108	Extracellular (Potential).					integral to plasma membrane	receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		TCCTCACTCCCCCTATCAGTT	0.507													A	55349282	C	A	55349282	3	1	136	1	0	0	0	0	1	0	0	0	8319	623	22	5	332	5	KIR2DS4	19	55349282	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	7608	55349282	3779701	544	79366											
BRSK1	84446	broad.mit.edu	37	chr19	55813018	55813018	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgaagtggagcccgaaaaaAggctcagtgtgagttgaggg	16	6	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:55813018A>C	uc002qkg.2	+	8	1094	c.817A>C	c.(817-819)AGG>CGG	p.R273R	BRSK1_uc002qkf.2_Silent_p.R289R|BRSK1_uc002qkh.2_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	273	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCCCGAAAAAAGGCTCAGTGT	0.577													C	55813018	A	C	55813018	2	2	136	1	0	0	0	0	0	0	0	1	1523	63	3	5		5	BRSK1	19	55813018	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	463736	55813018	3315965	545	79367											
NLRP9	338321	broad.mit.edu	37	chr19	56243492	56243492	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgttaccaatataaatgaAaacttcttcaaagaaattca	3	6	3	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:56243492A>C	uc002qly.2	-	2	1733	c.1705T>G	c.(1705-1707)TTC>GTC	p.F569V		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	569						cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ATATAAATGAAAACTTCTTCA	0.343													C	56243492	A	C	56243492	3	2	136	1	0	0	0	0	1	0	0	0	10484	14	1	5	1302	5	NLRP9	19	56243492	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	430474	56243492	2885491	546	79368											
ZNF211	10520	broad.mit.edu	37	chr19	58152729	58152729	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgcaatgaatgtggaaAattctttacctactactcca	6	8	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr19:58152729A>G	uc002qpq.2	+	3	1055	c.875A>G	c.(874-876)AAA>AGA	p.K292R	ZNF211_uc010yhb.1_Missense_Mutation_p.K296R|ZNF211_uc002qpp.2_Missense_Mutation_p.K305R|ZNF211_uc002qpr.2_Missense_Mutation_p.K356R|ZNF211_uc002qps.2_Missense_Mutation_p.K357R|ZNF211_uc002qpt.2_Missense_Mutation_p.K304R|ZNF211_uc010yhc.1_Missense_Mutation_p.K304R|ZNF211_uc010yhd.1_Missense_Mutation_p.K231R|ZNF211_uc010yhe.1_Missense_Mutation_p.K283R	NM_198855	NP_942152	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 2	292	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAATGTGGAAAATTCTTTACC	0.413													G	58152729	A	G	58152729	3	3	136	1	0	0	0	0	1	0	0	0	17764	14	1	3	928	3	ZNF211	19	58152729	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	1909237	58152729	976254	547	79369											
DEFB129	140881	broad.mit.edu	37	chr20	210029	210029	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaaaatgttgtgttggaCcaaaagtggttaaattgatt	10	2	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr20:210029C>A	uc002wda.2	+	2	174	c.169C>A	c.(169-171)CCA>ACA	p.P57T		NM_080831	NP_543021	Q9H1M3	DB129_HUMAN	beta defensin 129 precursor	57					defense response to bacterium	extracellular region				ovary(1)	1		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TTGTGTTGGACCAAAAGTGGT	0.378													A	210029	C	A	210029	3	1	136	1	0	0	0	0	1	0	0	0	4415	507	18	5	175	5	DEFB129	20	210029	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08		210029	62815491	548	79370											
TGM3	7053	broad.mit.edu	37	chr20	2315813	2315813	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtatgagaagtacctgaAgtcagacaacatgatccgga	10	8	2	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr20:2315813A>G	uc002wfx.3	+	11	1791	c.1694A>G	c.(1693-1695)AAG>AGG	p.K565R		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	565					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	p.K565K(1)		large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	AAGTACCTGAAGTCAGACAAC	0.557													G	2315813	A	G	2315813	3	3	136	1	0	0	0	0	1	0	0	0	15828	72	3	3	1736	3	TGM3	20	2315813	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	2105784	2315813	60709707	549	79371											
GPCPD1	56261	broad.mit.edu	37	chr20	5559187	5559187	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatctccaagctattggacaTtttgtggagtacagtgggag	12	6	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr20:5559187T>G	uc002wme.3	-	8	757	c.544A>C	c.(544-546)ATG>CTG	p.M182L	GPCPD1_uc002wmd.3_Missense_Mutation_p.M1L	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	hypothetical protein LOC56261	182					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity				0						CTATTGGACATTTTGTGGAGT	0.453													G	5559187	T	G	5559187	3	3	136	1	0	0	0	0	1	0	0	0	6603	1493	52	5	1526	5	GPCPD1	20	5559187	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	3243374	5559187	57466333	550	79372											
PLCB1	23236	broad.mit.edu	37	chr20	8630095	8630095	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtagtcttccatcttcaaGggtgagcatgtgtgttatgc	11	7	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr20:8630095G>T	uc002wnb.2	+	7	596	c.593G>T	c.(592-594)AGG>ATG	p.R198M	PLCB1_uc010zrb.1_Missense_Mutation_p.R97M|PLCB1_uc010gbv.1_Missense_Mutation_p.R198M|PLCB1_uc002wmz.1_Missense_Mutation_p.R198M|PLCB1_uc002wna.2_Missense_Mutation_p.R198M|PLCB1_uc002wnc.1_Missense_Mutation_p.R97M	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	198					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						CCATCTTCAAGGGTGAGCATG	0.254													T	8630095	G	T	8630095	3	4	136	1	0	0	0	0	1	0	0	0	12027	1014	35	5	619	5	PLCB1	20	8630095	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	3070908	8630095	54395425	551	79373											
ANKRD5	63926	broad.mit.edu	37	chr20	10035216	10035216	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattaccagtggttatactaAgaaagtggatatcacattta	8	5	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr20:10035216A>G	uc002wno.2	+	10	2534	c.2141A>G	c.(2140-2142)AAG>AGG	p.K714R	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.K714R|ANKRD5_uc010gbz.2_Missense_Mutation_p.K525R	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	714							calcium ion binding			ovary(1)|breast(1)	2						GGTTATACTAAGAAAGTGGAT	0.363													G	10035216	A	G	10035216	3	3	136	1	0	0	0	0	1	0	0	0	676	72	3	3	2171	3	ANKRD5	20	10035216	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	1405121	10035216	52990304	552	79374											
C20orf26	26074	broad.mit.edu	37	chr20	20056254	20056254	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcagctgcacgttcgcaaAgccaggtacagttggagtca	11	12	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr20:20056254A>G	uc002wru.2	+	6	637	c.561A>G	c.(559-561)AAA>AAG	p.K187K	C20orf26_uc010gcw.1_Silent_p.K141K|C20orf26_uc010zse.1_Silent_p.K187K|C20orf26_uc010zsf.1_Silent_p.K187K	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	187										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		ACGTTCGCAAAGCCAGGTACA	0.483													G	20056254	A	G	20056254	2	3	136	1	0	0	0	0	0	0	0	1	2106	69	3	3		3	C20orf26	20	20056254	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	10021038	20056254	42969266	553	79375											
NKX2-2	4821	broad.mit.edu	37	chr20	21494272	21494272	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcaggtctaagatgtccttGaccgaaaaccccgtctttgt	10	11	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr20:21494272G>A	uc002wsi.2	-	1	393	c.36C>T	c.(34-36)GTC>GTT	p.V12V		NM_002509	NP_002500	O95096	NKX22_HUMAN	NK2 transcription factor related, locus 2	12					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			pancreas(1)|skin(1)	2						AGATGTCCTTGACCGAAAACC	0.572													A	21494272	G	A	21494272	2	1	136	1	0	0	0	0	0	0	0	1	10450	1277	45	4		4	NKX2-2	20	21494272	Silent	SNP	G	TCGA-CD-5801-01A-11D-1600-08	1438018	21494272	41531248	554	79376											
TMEM90B	79953	broad.mit.edu	37	chr20	24523780	24523780	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgctggtgcacagtaaaaTcagtgatgctggcaagagga	13	7	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr20:24523780T>C	uc002wtw.1	+	2	680	c.47T>C	c.(46-48)ATC>ACC	p.I16T		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	transmembrane protein 90B	16	Cytoplasmic (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane					0						CACAGTAAAATCAGTGATGCT	0.517													C	24523780	T	C	24523780	3	2	136	1	0	0	0	0	1	0	0	0	16216	1435	50	3	49	3	TMEM90B	20	24523780	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	3029508	24523780	38501740	555	79377											
HCK	3055	broad.mit.edu	37	chr20	30674564	30674564	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcaaacttcatgcggtGgtcaccaaggagcccatcta	10	12	4	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr20:30674564G>A	uc002wxh.2	+	9	1140	c.969G>A	c.(967-969)GTG>GTA	p.V323V	HCK_uc010gdy.2_Silent_p.V302V|HCK_uc002wxi.2_Silent_p.V301V	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	323	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TTCATGCGGTGGTCACCAAGG	0.572													A	30674564	G	A	30674564	2	1	136	1	0	0	0	0	0	0	0	1	6994	1335	47	4		4	HCK	20	30674564	Silent	SNP	G	TCGA-CD-5801-01A-11D-1600-08	6150784	30674564	32350956	556	79378											
RALY	22913	broad.mit.edu	37	chr20	32660008	32660008	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agatgtggagaccatcttctCtaagtatggccgtgtggccg	13	9	2	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr20:32660008C>T	uc002xab.2	+	3	426	c.128C>T	c.(127-129)TCT>TTT	p.S43F	RALY_uc010zui.1_Missense_Mutation_p.S43F|RALY_uc002xac.2_Missense_Mutation_p.S43F|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.S43F	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	RNA binding protein (autoantigenic,	43	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(1)	1						ACCATCTTCTCTAAGTATGGC	0.512													T	32660008	C	T	32660008	3	4	136	1	0	0	0	0	1	0	0	0	13019	913	32	4	130	4	RALY	20	32660008	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	1985444	32660008	30365512	557	79379											
C20orf152	140894	broad.mit.edu	37	chr20	34571996	34571996	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgcaataaccaaggacgAggatggcagcagtgccttcc	12	10	0	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr20:34571996A>C	uc002xes.1	+	5	656	c.500A>C	c.(499-501)GAG>GCG	p.E167A	C20orf152_uc002xer.1_Missense_Mutation_p.E167A|C20orf152_uc010gfp.1_Intron			Q96M20	CT152_HUMAN	SubName: Full=C20orf152 protein;	167	cNMP.										0	Breast(12;0.00631)					ACCAAGGACGAGGATGGCAGC	0.542													C	34571996	A	C	34571996	3	2	136	1	0	0	0	0	1	0	0	0	2092	304	11	5	518	5	C20orf152	20	34571996	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	1911988	34571996	28453524	558	79380											
EMILIN3	90187	broad.mit.edu	37	chr20	39990482	39990482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccttgaagtgagctgcccGtcccttctgccagctgtccc	10	17	1	2	rs148759441		TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr20:39990482G>A	uc002xjy.1	-	4	1951	c.1727C>T	c.(1726-1728)ACG>ATG	p.T576M		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	576						proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)				TGAGCTGCCCGTCCCTTCTGC	0.612													A	39990482	G	A	39990482	3	1	136	1	0	0	0	0	1	0	0	0	5095	1145	40	1	577	1	EMILIN3	20	39990482	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	5418486	39990482	23035038	559	79381											
ADNP	23394	broad.mit.edu	37	chr20	49509420	49509420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttttatagggcactgcagCttgaggtgaactttttacag	10	6	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr20:49509420C>T	uc002xvt.1	-	5	2176	c.1831G>A	c.(1831-1833)GCT>ACT	p.A611T	ADNP_uc002xvu.1_Missense_Mutation_p.A611T	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	611						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						GGCACTGCAGCTTGAGGTGAA	0.433													T	49509420	C	T	49509420	3	4	136	1	0	0	0	0	1	0	0	0	323	797	28	2	1481	2	ADNP	20	49509420	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	9518938	49509420	13516100	560	79382											
BCAS1	8537	broad.mit.edu	37	chr20	52601953	52601953	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttgcatcctttggaattcTtgccagccccttgggtctcc	10	13	2	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr20:52601953T>C	uc002xws.2	-	7	1351	c.1013A>G	c.(1012-1014)AAG>AGG	p.K338R	BCAS1_uc010zza.1_Missense_Mutation_p.K96R|BCAS1_uc010zzb.1_Missense_Mutation_p.K286R|BCAS1_uc010gim.2_Missense_Mutation_p.K286R|BCAS1_uc002xwt.2_Missense_Mutation_p.K338R|BCAS1_uc010gil.1_Missense_Mutation_p.K338R	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	338						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TTTGGAATTCTTGCCAGCCCC	0.517													C	52601953	T	C	52601953	3	2	136	1	0	0	0	0	1	0	0	0	1350	1609	56	3	765	3	BCAS1	20	52601953	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	3092533	52601953	10423567	561	79383											
MC3R	4159	broad.mit.edu	37	chr20	54824097	54824097	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctggccgtggtcaggaaCggcaacctgcactccccgat	11	15	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr20:54824097C>T	uc002xxb.2	+	1	310	c.198C>T	c.(196-198)AAC>AAT	p.N66N		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	103	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	p.N103N(1)		ovary(2)|breast(2)	4			Colorectal(105;0.202)			TGGTCAGGAACGGCAACCTGC	0.562													T	54824097	C	T	54824097	2	4	136	1	0	0	0	0	0	0	0	1	9365	535	19	1		1	MC3R	20	54824097	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	2222144	54824097	8201423	562	79384											
CASS4	57091	broad.mit.edu	37	chr20	55012519	55012519	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcccactccaggccccgtTtatgagcagatgaggagttg	11	13	0	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr20:55012519T>G	uc002xxp.2	+	3	561	c.336T>G	c.(334-336)GTT>GTG	p.V112V	CASS4_uc002xxq.3_Silent_p.V112V|CASS4_uc002xxr.2_Silent_p.V112V|CASS4_uc010zze.1_Intron|CASS4_uc010gio.2_Silent_p.V112V	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	112					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						CAGGCCCCGTTTATGAGCAGA	0.617													G	55012519	T	G	55012519	2	3	136	1	0	0	0	0	0	0	0	1	2683	1828	64	5		5	CASS4	20	55012519	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	188422	55012519	8013001	563	79385											
CDH26	60437	broad.mit.edu	37	chr20	58559774	58559774	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtcctttacttcctcattTctcaaacaccattactgaaa	2	12	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr20:58559774T>C	uc002ybe.2	+	6	922	c.622T>C	c.(622-624)TCT>CCT	p.S208P	CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	208	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CTTCCTCATTTCTCAAACACC	0.373													C	58559774	T	C	58559774	3	2	136	1	0	0	0	0	1	0	0	0	3110	1783	62	3	644	3	CDH26	20	58559774	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	3547255	58559774	4465746	564	79386											
CDH26	60437	broad.mit.edu	37	chr20	58559811	58559811	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaaagtggtttccgggTtgatcgccttagtggagaaa	14	5	0	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr20:58559811T>G	uc002ybe.2	+	6	959	c.659T>G	c.(658-660)GTT>GGT	p.V220G	CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	220	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GGTTTCCGGGTTGATCGCCTT	0.378													G	58559811	T	G	58559811	3	3	136	1	0	0	0	0	1	0	0	0	3110	1725	60	5	681	5	CDH26	20	58559811	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	37	58559811	4465709	565	79387											
TAF4	6874	broad.mit.edu	37	chr20	60587991	60587991	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgataggtgttccaggtgcCtgaaaaataagcagagtcac	11	7	1	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr20:60587991C>T	uc002ybs.2	-	3	1522	c.1522_splice	c.e3-1	p.A508_splice		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4						interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TTCCAGGTGCCTGAAAAATAA	0.478													T	60587991	C	T	60587991	5	4	136	1	0	0	0	0	0	0	1	0	15523	695	24	4	1788	4	TAF4	20	60587991	Splice_Site	SNP	C	TCGA-CD-5801-01A-11D-1600-08	2028180	60587991	2437529	566	79388											
TCFL5	10732	broad.mit.edu	37	chr20	61485451	61485451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agttgtggccttgtcagtctCggcattgcagaacggcacta	12	10	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr20:61485451C>T	uc002ydp.2	-	5	1390	c.1297G>A	c.(1297-1299)GAG>AAG	p.E433K	TCFL5_uc002ydo.2_Missense_Mutation_p.E206K|TCFL5_uc002ydq.2_Missense_Mutation_p.E432K	NM_006602	NP_006593	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 protein	433	Helix-loop-helix motif.				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1	Breast(26;5.68e-08)					TTGTCAGTCTCGGCATTGCAG	0.488													T	61485451	C	T	61485451	3	4	136	1	0	0	0	0	1	0	0	0	15696	893	31	1	213	1	TCFL5	20	61485451	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	897460	61485451	1540069	567	79389											
DIDO1	11083	broad.mit.edu	37	chr20	61513128	61513128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgagtgtcgaaggccctctCcgggtcgtactcctcctcag	11	15	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr20:61513128C>T	uc002ydr.1	-	16	4444	c.4180G>A	c.(4180-4182)GAG>AAG	p.E1394K	DIDO1_uc002yds.1_Missense_Mutation_p.E1394K	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1394					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					AAGGCCCTCTCCGGGTCGTAC	0.602													T	61513128	C	T	61513128	3	4	136	1	0	0	0	0	1	0	0	0	4522	864	30	4	2546	4	DIDO1	20	61513128	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	27677	61513128	1512392	568	79390											
YTHDF1	54915	broad.mit.edu	37	chr20	61834292	61834292	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccaaacgccgcgtttcTgttgcgtggggcaacccagc	12	15	1	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr20:61834292T>C	uc002yeh.2	-	4	1294	c.1000A>G	c.(1000-1002)AGA>GGA	p.R334G	YTHDF1_uc011aaq.1_Missense_Mutation_p.R284G	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	334										ovary(2)	2						GCCGCGTTTCTGTTGCGTGGG	0.647													C	61834292	T	C	61834292	3	2	136	1	0	0	0	0	1	0	0	0	17495	1588	55	3	687	3	YTHDF1	20	61834292	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	321164	61834292	1191228	569	79391											
GRIK1	2897	broad.mit.edu	37	chr21	31027143	31027143	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttaccagggttgtgaaaAagtagtgatagtactcggtc	11	7	0	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr21:31027143A>C	uc002yno.1	-	5	1231	c.767T>G	c.(766-768)TTT>TGT	p.F256C	GRIK1_uc002ynn.2_Missense_Mutation_p.F256C|GRIK1_uc011acs.1_Missense_Mutation_p.F256C|GRIK1_uc011act.1_Missense_Mutation_p.F200C|GRIK1_uc010glq.1_Missense_Mutation_p.F114C|GRIK1_uc002ynr.2_Missense_Mutation_p.F256C	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	256	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GGTTGTGAAAAAGTAGTGATA	0.408													C	31027143	A	C	31027143	3	2	136	1	0	0	0	0	1	0	0	0	6773	14	1	5	2201	5	GRIK1	21	31027143	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08		31027143	17102752	570	79392											
ERG	2078	broad.mit.edu	37	chr21	39795341	39795341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcacctgacctgctggcaCgataactctgcgctcgttcg	12	14	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr21:39795341C>T	uc010gnw.2	-	5	695	c.400G>A	c.(400-402)GTG>ATG	p.V134M	ERG_uc002yxa.2_Missense_Mutation_p.V127M|ERG_uc011aek.1_Missense_Mutation_p.V35M|ERG_uc010gnv.2_Missense_Mutation_p.V35M|ERG_uc010gnx.2_Missense_Mutation_p.V134M|ERG_uc011ael.1_Missense_Mutation_p.V134M|ERG_uc002yxb.2_Missense_Mutation_p.V134M|ERG_uc011aem.1_Missense_Mutation_p.V127M|ERG_uc002yxc.3_Missense_Mutation_p.V134M	NM_001136155	NP_001129627	P11308	ERG_HUMAN	ets-related isoform 4	134	PNT.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828		Prostate(19;3.6e-06)				CCTGCTGGCACGATAACTCTG	0.612													T	39795341	C	T	39795341	3	4	136	1	0	0	0	0	1	0	0	0	5222	536	19	1	1092	1	ERG	21	39795341	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	8768198	39795341	8334554	571	79393											
BACE2	25825	broad.mit.edu	37	chr21	42647325	42647325	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctgcagtgtctgaaaTttccgggcctttctcaacag	11	10	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr21:42647325T>G	uc002yyw.2	+	9	1794	c.1331T>G	c.(1330-1332)ATT>AGT	p.I444S	BACE2_uc002yyx.2_Missense_Mutation_p.I394S|BACE2_uc002yyy.2_Missense_Mutation_p.F388V|BACE2_uc010goo.2_RNA	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2 isoform A	444	Extracellular (Potential).				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GTGTCTGAAATTTCCGGGCCT	0.512													G	42647325	T	G	42647325	3	3	136	1	0	0	0	0	1	0	0	0	1282	1493	52	5	1365	5	BACE2	21	42647325	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	2851984	42647325	5482570	572	79394											
COL6A2	1292	broad.mit.edu	37	chr21	47546039	47546039	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgagaagcacgagagtgaAaacctctactccatcgcctg	9	13	1	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr21:47546039A>C	uc002zia.1	+	26	2392	c.2310A>C	c.(2308-2310)GAA>GAC	p.E770D	COL6A2_uc002zhy.1_Missense_Mutation_p.E770D|COL6A2_uc002zhz.1_Missense_Mutation_p.E770D|COL6A2_uc002zib.1_Missense_Mutation_p.E176D|COL6A2_uc002zic.1_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	770	VWFA 2.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACGAGAGTGAAAACCTCTACT	0.597													C	47546039	A	C	47546039	3	2	136	1	0	0	0	0	1	0	0	0	3700	11	1	5	2408	5	COL6A2	21	47546039	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	4898714	47546039	583856	573	79395											
MYO18B	84700	broad.mit.edu	37	chr22	26423450	26423450	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcccaaggaggatcccgctCacctgtctgactcgtcctca	9	16	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr22:26423450C>T	uc003abz.1	+	43	7760	c.7510C>T	c.(7510-7512)CAC>TAC	p.H2504Y	MYO18B_uc003aca.1_Missense_Mutation_p.H2385Y|MYO18B_uc010guy.1_Missense_Mutation_p.H2386Y|MYO18B_uc010guz.1_Missense_Mutation_p.H2384Y|MYO18B_uc011aka.1_Missense_Mutation_p.H1658Y|MYO18B_uc011akb.1_Missense_Mutation_p.H2017Y|MYO18B_uc010gva.1_Missense_Mutation_p.H487Y|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2504						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						GGATCCCGCTCACCTGTCTGA	0.542													T	26423450	C	T	26423450	3	4	136	1	0	0	0	0	1	0	0	0	10066	826	29	4	7676	4	MYO18B	22	26423450	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08		26423450	24881116	574	79396											
TRIOBP	11078	broad.mit.edu	37	chr22	38120199	38120199	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctcccaatagagctgcaCgagacaaccccacaacatcc	5	18	1	2			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr22:38120199C>T	uc003atr.2	+	7	1907	c.1636C>T	c.(1636-1638)CGA>TGA	p.R546*	TRIOBP_uc003atu.2_Nonsense_Mutation_p.R374*|TRIOBP_uc003atq.1_Nonsense_Mutation_p.R546*|TRIOBP_uc003ats.1_Nonsense_Mutation_p.R374*	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	546					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					TAGAGCTGCACGAGACAACCC	0.587													T	38120199	C	T	38120199	4	4	136	1	0	0	0	0	0	1	0	0	16550	528	19	1	1654	1	TRIOBP	22	38120199	Nonsense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	11696749	38120199	13184367	575	79397											
XRCC6	2547	broad.mit.edu	37	chr22	42054327	42054327	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccttggccttggatttgaTggagccggaacaagcagtgg	16	8	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr22:42054327T>G	uc003bao.1	+	11	1563	c.1493T>G	c.(1492-1494)ATG>AGG	p.M498R	XRCC6_uc003bap.1_Missense_Mutation_p.M457R|XRCC6_uc011apc.1_Missense_Mutation_p.M448R|XRCC6_uc003baq.1_Missense_Mutation_p.M498R|XRCC6_uc003bar.1_Missense_Mutation_p.M498R|XRCC6_uc003bas.1_Missense_Mutation_p.M448R	NM_001469	NP_001460	P12956	XRCC6_HUMAN	ATP-dependent DNA helicase II, 70 kDa subunit	498					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			skin(2)|ovary(1)|lung(1)|kidney(1)	5						TTGGATTTGATGGAGCCGGAA	0.468								Direct_reversal_of_damage|NHEJ					G	42054327	T	G	42054327	3	3	136	1	0	0	0	0	1	0	0	0	17454	1464	51	5	1531	5	XRCC6	22	42054327	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	3934128	42054327	9250239	576	79398											
LMF2	91289	broad.mit.edu	37	chr22	50941834	50941834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacagctacttctttcgccGggtggtcctcgaactactgg	10	13	1	0	rs144527949		TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chr22:50941834G>A	uc003blp.2	-	14	2141	c.2110C>T	c.(2110-2112)CGG>TGG	p.R704W	LMF2_uc010hba.2_Missense_Mutation_p.R526W|LMF2_uc003blo.2_Missense_Mutation_p.R679W	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	704						endoplasmic reticulum membrane|integral to membrane				breast(1)	1		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTTTCGCCGGGTGGTCCTC	0.672													A	50941834	G	A	50941834	3	1	136	1	0	0	0	0	1	0	0	0	8846	1115	39	1	17	1	LMF2	22	50941834	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	8887507	50941834	362732	577	79399											
MSL3	10943	broad.mit.edu	37	chrX	11779011	11779011	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcctggtgtggactctgtcTtaaaaggcctccccactgaa	10	12	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chrX:11779011T>A	uc004cuw.2	+	4	442	c.337T>A	c.(337-339)TTA>ATA	p.L113I	MSL3_uc004cuv.1_Missense_Mutation_p.L113I|MSL3_uc004cux.2_Missense_Mutation_p.L54I|MSL3_uc011mig.1_5'UTR|MSL3_uc011mih.1_Missense_Mutation_p.L101I|MSL3_uc004cuy.2_5'UTR|MSL3_uc011mii.1_5'UTR	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3-like 1 isoform a	113					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGACTCTGTCTTAAAAGGCCT	0.418													A	11779011	T	A	11779011	3	1	136	1	0	0	0	0	1	0	0	0	9879	1606	56	5	351	5	MSL3	23	11779011	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08		11779011	143491549	578	79400											
KLHL15	80311	broad.mit.edu	37	chrX	24006435	24006435	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcatctcgcgtaattcatcTtgctcttattctcccaacag	5	13	5	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chrX:24006435T>G	uc004dba.3	-	4	1674	c.1418A>C	c.(1417-1419)AAG>ACG	p.K473T		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	kelch-like 15	473	Kelch 3.									ovary(1)|breast(1)	2						GTAATTCATCTTGCTCTTATT	0.458													G	24006435	T	G	24006435	3	3	136	1	0	0	0	0	1	0	0	0	8371	1609	56	5	400	5	KLHL15	23	24006435	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	12227424	24006435	131264125	579	79401											
ZFX	7543	broad.mit.edu	37	chrX	24226360	24226360	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaatcgctgacgaagtTtatatggaagtgatcgtagg	13	5	0	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chrX:24226360T>G	uc004dbf.2	+	7	1224	c.966T>G	c.(964-966)GTT>GTG	p.V322V	ZFX_uc004dbd.1_Silent_p.V322V|ZFX_uc010nfx.1_Silent_p.V93V|ZFX_uc004dbe.2_Silent_p.V322V|ZFX_uc011mjv.1_Silent_p.V361V|ZFX_uc010nfy.1_Intron|ZFX_uc010nfz.2_Silent_p.V25V	NM_003410	NP_003401	P17010	ZFX_HUMAN	zinc finger protein, X-linked	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(2)	2						CTGACGAAGTTTATATGGAAG	0.443													G	24226360	T	G	24226360	2	3	136	1	0	0	0	0	0	0	0	1	17658	1828	64	5		5	ZFX	23	24226360	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	219925	24226360	131044200	580	79402											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29301159	29301159	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttatggttatatcagaacaAattactcccttgcccaaagt	5	9	1	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chrX:29301159A>C	uc004dby.2	+	3	695	c.187A>C	c.(187-189)AAT>CAT	p.N63H		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	63	Ig-like C2-type 1.|Extracellular (Potential).				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						TATCAGAACAAATTACTCCCT	0.418													C	29301159	A	C	29301159	3	2	136	1	0	0	0	0	1	0	0	0	7661	14	1	5	193	5	IL1RAPL1	23	29301159	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	5074799	29301159	125969401	581	79403											
KDM6A	7403	broad.mit.edu	37	chrX	44928861	44928861	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagttcacattcggcaggtcCtaatggtgaacgacctctct	10	11	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chrX:44928861C>G	uc004dge.3	+	17	2336	c.1961C>G	c.(1960-1962)CCT>CGT	p.P654R	KDM6A_uc010nhk.2_Missense_Mutation_p.P620R|KDM6A_uc011mkz.1_Missense_Mutation_p.P706R|KDM6A_uc011mla.1_Missense_Mutation_p.P609R|KDM6A_uc011mlb.1_Missense_Mutation_p.P661R|KDM6A_uc011mlc.1_Missense_Mutation_p.P358R|KDM6A_uc011mld.1_Missense_Mutation_p.P293R	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	654					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TCGGCAGGTCCTAATGGTGAA	0.443			D|N|F|S		renal|oesophageal SCC|MM								G	44928861	C	G	44928861	3	3	136	1	0	0	0	0	1	0	0	0	8137	681	24	5	2027	5	KDM6A	23	44928861	Missense_Mutation	SNP	C	TCGA-CD-5801-01A-11D-1600-08	15627702	44928861	110341699	582	79404											
FGD1	2245	broad.mit.edu	37	chrX	54472631	54472632	+	Frame_Shift_Ins	INS	-	-	G													tcctccatctccctgtcctcINSagacagtgtgggccccgggc							TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chrX:54472631_54472632insG	uc004dtg.2	-	18	3530_3531	c.2796_2797insC	c.(2794-2799)TCTGAGfs	p.S932fs		NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	932_933					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						TCCCTGTCCTCAGACAGTGTGG	0.644													G	54472632	-	G	54472631	7	5	136	1	0	1	1	0	0	0	0	0	5832	835	29	0	92	0	FGD1	23	54472631	Frame_Shift_Ins	INS	-	TCGA-CD-5801-01A-11D-1600-08	9543770	54472631	100797929	583	79405											
ITIH5L	347365	broad.mit.edu	37	chrX	54785174	54785174	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgggctattccccggtTttccagggacaggcggcgca	15	14	0	0			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chrX:54785174T>C	uc004dtj.2	-	8	1363	c.1333A>G	c.(1333-1335)AAC>GAC	p.N445D		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	445	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						ATTCCCCGGTTTTCCAGGGAC	0.582													C	54785174	T	C	54785174	3	2	136	1	0	0	0	0	1	0	0	0	7908	1841	64	3	2632	3	ITIH5L	23	54785174	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	312543	54785174	100485386	584	79406											
TRO	7216	broad.mit.edu	37	chrX	54955296	54955296	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgaggccagagcccaagaAaatgcagatgccagcaccaa	10	11	0	4			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chrX:54955296A>C	uc004dtq.2	+	12	2246	c.2139A>C	c.(2137-2139)GAA>GAC	p.E713D	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.E244D|TRO_uc004dtw.2_Missense_Mutation_p.E316D|TRO_uc004dtx.2_Missense_Mutation_p.E96D	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	713					embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						GAGCCCAAGAAAATGCAGATG	0.493													C	54955296	A	C	54955296	3	2	136	1	0	0	0	0	1	0	0	0	16571	11	1	5	2181	5	TRO	23	54955296	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	170122	54955296	100315264	585	79407											
ZC4H2	55906	broad.mit.edu	37	chrX	64140008	64140008	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaagtcagggagcctctgCaggcccagagtcatgcgcag	13	13	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chrX:64140008C>T	uc004dvu.2	-	3	439	c.351G>A	c.(349-351)CTG>CTA	p.L117L	ZC4H2_uc004dvv.2_Silent_p.L94L|ZC4H2_uc011mov.1_Silent_p.L94L|ZC4H2_uc011mow.1_Silent_p.L117L|ZC4H2_uc004dvw.1_Silent_p.L117L	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	117							metal ion binding|protein binding			ovary(1)	1						GGAGCCTCTGCAGGCCCAGAG	0.522													T	64140008	C	T	64140008	2	4	136	1	0	0	0	0	0	0	0	1	17575	697	25	2		2	ZC4H2	23	64140008	Silent	SNP	C	TCGA-CD-5801-01A-11D-1600-08	9184712	64140008	91130552	586	79408											
RLIM	51132	broad.mit.edu	37	chrX	73812787	73812787	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccgactcactgctctccaAgattggtttcctctttgccc	7	15	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chrX:73812787A>G	uc004ebu.2	-	5	653	c.363T>C	c.(361-363)TCT>TCC	p.S121S	RLIM_uc004ebw.2_Silent_p.S121S	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	121					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						CTGCTCTCCAAGATTGGTTTC	0.393													G	73812787	A	G	73812787	2	3	136	1	0	0	0	0	0	0	0	1	13390	59	3	3		3	RLIM	23	73812787	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	9672779	73812787	81457773	587	79409											
KLHL4	56062	broad.mit.edu	37	chrX	86773290	86773290	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagatttggagatgatggctGatgacaatatagaagattct	11	3	1	7			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chrX:86773290G>A	uc004efb.2	+	1	576	c.394G>A	c.(394-396)GAT>AAT	p.D132N	KLHL4_uc004efa.2_Missense_Mutation_p.D132N	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	132						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GATGATGGCTGATGACAATAT	0.363													A	86773290	G	A	86773290	3	1	136	1	0	0	0	0	1	0	0	0	8391	1290	45	4	396	4	KLHL4	23	86773290	Missense_Mutation	SNP	G	TCGA-CD-5801-01A-11D-1600-08	12960503	86773290	68497270	588	79410											
TCEAL5	340543	broad.mit.edu	37	chrX	102529262	102529262	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtcctcaccttcagacTtgccctgcttttcctggttt	7	14	2	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chrX:102529262T>G	uc004ejz.1	-	3	525	c.230A>C	c.(229-231)AAG>ACG	p.K77T		NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	77	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(1)|breast(1)	2						ACCTTCAGACTTGCCCTGCTT	0.418													G	102529262	T	G	102529262	3	3	136	1	0	0	0	0	1	0	0	0	15671	1609	56	5	394	5	TCEAL5	23	102529262	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	15755972	102529262	52741298	589	79411											
CXorf57	55086	broad.mit.edu	37	chrX	105855681	105855681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtatatcaaaatattcttaAagttggcattcaaatgagaa	6	5	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chrX:105855681A>G	uc004emi.3	+	1	522	c.371A>G	c.(370-372)AAA>AGA	p.K124R	CXorf57_uc004emj.3_Missense_Mutation_p.K124R|CXorf57_uc004emh.2_Missense_Mutation_p.K124R	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	hypothetical protein LOC55086	124										ovary(1)|lung(1)|breast(1)	3						AATATTCTTAAAGTTGGCATT	0.453													G	105855681	A	G	105855681	3	3	136	1	0	0	0	0	1	0	0	0	4113	14	1	3	373	3	CXorf57	23	105855681	Missense_Mutation	SNP	A	TCGA-CD-5801-01A-11D-1600-08	3326419	105855681	49414879	590	79412											
KIAA1210	57481	broad.mit.edu	37	chrX	118221482	118221482	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgaatctgagaaaacTtggtgcttgacttcaggctt	9	10	2	3			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chrX:118221482T>C	uc004era.3	-	11	3711	c.3711A>G	c.(3709-3711)CAA>CAG	p.Q1237Q		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	1237										ovary(4)|skin(1)	5						CTGAGAAAACTTGGTGCTTGA	0.478													C	118221482	T	C	118221482	2	2	136	1	0	0	0	0	0	0	0	1	8214	1606	56	3		3	KIAA1210	23	118221482	Silent	SNP	T	TCGA-CD-5801-01A-11D-1600-08	12365801	118221482	37049078	591	79413											
THOC2	57187	broad.mit.edu	37	chrX	122830587	122830587	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacaagagttttgtcttgaTtttaactgacttttgattga	7	4	1	5			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chrX:122830587T>G	uc004etu.2	-	6	483	c.451A>C	c.(451-453)ATC>CTC	p.I151L	THOC2_uc011muh.1_Missense_Mutation_p.I72L|THOC2_uc011mui.1_Missense_Mutation_p.I36L	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	151					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						TTTGTCTTGATTTTAACTGAC	0.358													G	122830587	T	G	122830587	3	3	136	1	0	0	0	0	1	0	0	0	15862	1493	52	5	4462	5	THOC2	23	122830587	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	4609105	122830587	32439973	592	79414											
USP26	83844	broad.mit.edu	37	chrX	132162027	132162027	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagccattattattttgtaaAgttaaatgcaggtgattttg	8	3	0	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chrX:132162027A>C	uc010nrm.1	-	6	692	c.222T>G	c.(220-222)ACT>ACG	p.T74T	USP26_uc011mvf.1_Silent_p.T74T	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	74					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					TATTTTGTAAAGTTAAATGCA	0.328													C	132162027	A	C	132162027	2	2	136	1	0	0	0	0	0	0	0	1	17054	59	3	5		5	USP26	23	132162027	Silent	SNP	A	TCGA-CD-5801-01A-11D-1600-08	9331440	132162027	23108533	593	79415											
ARHGEF6	9459	broad.mit.edu	37	chrX	135862980	135862980	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggatcacagatggtctttTtaggggactctaaaactccc	9	11	3	1			TCGA-CD-5801-01A-11D-1600-08	TCGA-CD-5801-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6097aab1-54ce-4157-85fd-3543fe555da7	797549d4-068f-4f51-9d73-4f187492e0bf	g.chrX:135862980T>G	uc004fab.2	-	1	524	c.62A>C	c.(61-63)AAA>ACA	p.K21T		NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	21	CH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					GATGGTCTTTTTAGGGGACTC	0.458													G	135862980	T	G	135862980	3	3	136	1	0	0	0	0	1	0	0	0	910	1841	64	5	2356	5	ARHGEF6	23	135862980	Missense_Mutation	SNP	T	TCGA-CD-5801-01A-11D-1600-08	3700953	135862980	19407580	594	79416											
NEXN	91624	broad.mit.edu	37	chr1	78395101	78395101	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agaaatggaaaggcaaagaaGagaagatgaaaaaaggaaag	13	1	0	5			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr1:78395101G>C	uc001dic.3	+	9	1262	c.965G>C	c.(964-966)AGA>ACA	p.R322T	NEXN_uc001dia.3_Missense_Mutation_p.R308T|NEXN_uc009wcb.1_Missense_Mutation_p.R244T|NEXN_uc001dib.3_Missense_Mutation_p.R258T|NEXN_uc001did.1_Missense_Mutation_p.R232T|NEXN_uc001dif.1_Missense_Mutation_p.R214T	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	322	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			ovary(2)	2				Colorectal(170;0.114)		aggcaaagaagagaagatgaa	0.229													C	78395101	G	C	78395101	3	2	137	1	0	0	0	0	1	0	0	0	10355	942	33	5	995	5	NEXN	1	78395101	Missense_Mutation	SNP	G	TCGA-CD-5802-01A-11D-1600-08		78395101	170855520	1	79417											
COL24A1	255631	broad.mit.edu	37	chr1	86591541	86591541	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaatgagtgccattgctcatCatgaacactgtagttgaaaa	8	7	2	3			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr1:86591541C>T	uc001dlj.2	-	3	520	c.478G>A	c.(478-480)GAT>AAT	p.D160N	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.D160N	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	160	TSP N-terminal.|Laminin G-like.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		CATTGCTCATCATGAACACTG	0.343													T	86591541	C	T	86591541	3	4	137	1	0	0	0	0	1	0	0	0	3683	826	29	4	4898	4	COL24A1	1	86591541	Missense_Mutation	SNP	C	TCGA-CD-5802-01A-11D-1600-08	8196440	86591541	162659080	2	79418											
LRRC8B	23507	broad.mit.edu	37	chr1	90058582	90058582	+	Frame_Shift_Del	DEL	A	A	-													ctgtaacagaacgtttacagAcgtgcttagacaaatgttga							TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr1:90058581_90058581GA>G	uc001dni.3	+	7	2898	c.2391_2391GA>G	c.(2389-2391)cagfs	p.Q797fs	LRRC8B_uc001dnh.3_Frame_Shift_Del_p.Q797fs|LRRC8B_uc001dnj.3_Frame_Shift_Del_p.Q797fs	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	797						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		AACGTTTACAGACGTGCTTAG	0.433													-	90058582	A	-	90058582	7	5	137	1	0	1	0	1	0	0	0	0	9022	275	10	0	2398	0	LRRC8B	1	90058582	Frame_Shift_Del	DEL	A	TCGA-CD-5802-01A-11D-1600-08	3467041	90058582	159192039	3	79419											
BPNT1	10380	broad.mit.edu	37	chr1	220242771	220242771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaggatcaacccagaccaCgagctaaaattaaaaagaga	8	9	1	3			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr1:220242771C>T	uc001hma.2	-	5	509	c.337G>A	c.(337-339)GTG>ATG	p.V113M	BPNT1_uc010pug.1_Missense_Mutation_p.V58M|BPNT1_uc010puh.1_Missense_Mutation_p.V77M|BPNT1_uc001hmb.3_Missense_Mutation_p.V113M	NM_006085	NP_006076	O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	113					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0558)		ACCCAGACCACGAGCTAAAAT	0.313													T	220242771	C	T	220242771	3	4	137	1	0	0	0	0	1	0	0	0	1494	536	19	1	609	1	BPNT1	1	220242771	Missense_Mutation	SNP	C	TCGA-CD-5802-01A-11D-1600-08	130184189	220242771	29007850	4	79420											
KCNF1	3754	broad.mit.edu	37	chr2	11053370	11053370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacgtgagcctcacgctcaCgcacctgggtgcccgcatga	11	16	2	2			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr2:11053370C>T	uc002rax.2	+	1	1308	c.818C>T	c.(817-819)ACG>ATG	p.T273M		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	273						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CTCACGCTCACGCACCTGGGT	0.632													T	11053370	C	T	11053370	3	4	137	1	0	0	0	0	1	0	0	0	8026	536	19	1	820	1	KCNF1	2	11053370	Missense_Mutation	SNP	C	TCGA-CD-5802-01A-11D-1600-08		11053370	232146003	5	79421											
GDF7	151449	broad.mit.edu	37	chr2	20871059	20871059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactccatggcaccagacgcGgcgccggcctcctgctgtgt	12	16	0	1			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr2:20871059G>A	uc002rdz.1	+	2	1803	c.1227G>A	c.(1225-1227)GCG>GCA	p.A409A		NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7 preproprotein	409					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCAGACGCGGCGCCGGCCT	0.612													A	20871059	G	A	20871059	2	1	137	1	0	0	0	0	0	0	0	1	6318	1103	39	1		1	GDF7	2	20871059	Silent	SNP	G	TCGA-CD-5802-01A-11D-1600-08	9817689	20871059	222328314	6	79422											
TCF23	150921	broad.mit.edu	37	chr2	27373194	27373194	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctggccctgcctggccGcccttcctgcgtggactccg	12	18	0	0			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr2:27373194G>A	uc010ylg.1	+	2	426	c.426G>A	c.(424-426)CCG>CCA	p.P142P		NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN	transcription factor 23	142					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCCTGGCCGCCCTTCCTGC	0.622													A	27373194	G	A	27373194	2	1	137	1	0	0	0	0	0	0	0	1	15689	1074	38	1		1	TCF23	2	27373194	Silent	SNP	G	TCGA-CD-5802-01A-11D-1600-08	6502135	27373194	215826179	7	79423											
GPR39	2863	broad.mit.edu	37	chr2	133175294	133175294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagtccagcatcttcggcGccttcgtggtctacctcgtg	10	15	2	0			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr2:133175294G>A	uc002ttl.2	+	1	1148	c.679G>A	c.(679-681)GCC>ACC	p.A227T		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	227	Helical; Name=5; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						CATCTTCGGCGCCTTCGTGGT	0.612													A	133175294	G	A	133175294	3	1	137	1	0	0	0	0	1	0	0	0	6693	1087	38	1	681	1	GPR39	2	133175294	Missense_Mutation	SNP	G	TCGA-CD-5802-01A-11D-1600-08	105802100	133175294	110024079	8	79424											
ZC3H15	55854	broad.mit.edu	37	chr2	187368933	187368934	+	Frame_Shift_Ins	INS	-	-	GA													ttcattagaagatctaattgINSagagagaggtaactggtatc							TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr2:187368932_187368933T>TGA	uc002upo.3	+	5	933_934	c.708_709T>TGA	c.(706-711)attgagfs	p.I236fs		NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	Homo sapiens zinc finger CCCH-type containing 15 (ZC3H15), mRNA.	236	Required for interaction with DRG1 (By similarity).					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	p.L235L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			AAGATCTAATTGAGAGAGAGGT	0.327													GA	187368934	-	GA	187368933	7	5	137	1	0	1	1	0	0	0	0	0	17564	1291	45	0	731	0	ZC3H15	2	187368933	Frame_Shift_Ins	INS	-	TCGA-CD-5802-01A-11D-1600-08	54193639	187368933	55830440	9	79425											
TNS1	7145	broad.mit.edu	37	chr2	218683433	218683433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggctgggtgggcgtccGgggaccctggtcactgctct	17	12	2	1			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr2:218683433G>A	uc002vgt.2	-	24	3708	c.3310C>T	c.(3310-3312)CGG>TGG	p.R1104W	TNS1_uc002vgr.2_Missense_Mutation_p.R1091W|TNS1_uc002vgs.2_Missense_Mutation_p.R1083W|TNS1_uc010zjv.1_Missense_Mutation_p.R1083W	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1104	Ser-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GTGGGCGTCCGGGGACCCTGG	0.612													A	218683433	G	A	218683433	3	1	137	1	0	0	0	0	1	0	0	0	16340	1115	39	1	1937	1	TNS1	2	218683433	Missense_Mutation	SNP	G	TCGA-CD-5802-01A-11D-1600-08	31314500	218683433	24515940	10	79426											
KCNH8	131096	broad.mit.edu	37	chr3	19384207	19384207	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaattgaaaataaataacGtaggtggtatgtgtgtacag	10	3	0	1			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr3:19384207G>A	uc003cbk.1	+	4	765	c.570_splice	c.e4+1	p.N190_splice	KCNH8_uc011awe.1_Splice_Site_p.N190_splice|KCNH8_uc010hex.1_Splice_Site	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,							integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						AATAAATAACGTAGGTGGTAT	0.453													A	19384207	G	A	19384207	5	1	137	1	0	0	0	0	0	0	1	0	8038	1159	40	1	585	1	KCNH8	3	19384207	Splice_Site	SNP	G	TCGA-CD-5802-01A-11D-1600-08		19384207	178638223	11	79427											
C3orf72	401089	broad.mit.edu	37	chr3	138669287	138669287	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gctgtcccctttcctagcggGaccccgaaacacccggcggc	11	18	0	0			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr3:138669287G>C	uc003esx.1	+	3	532	c.401G>C	c.(400-402)GGA>GCA	p.G134A	C3orf72_uc011bmr.1_3'UTR	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	134											0						TTCCTAGCGGGACCCCGAAAC	0.667													C	138669287	G	C	138669287	3	2	137	1	0	0	0	0	1	0	0	0	2244	1174	41	5	411	5	C3orf72	3	138669287	Missense_Mutation	SNP	G	TCGA-CD-5802-01A-11D-1600-08	119285080	138669287	59353143	12	79428											
GHSR	2693	broad.mit.edu	37	chr3	172165669	172165669	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctccaccccgactagcacgaAgatgggcccggcgctgcaga	12	16	0	2			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr3:172165669A>T	uc003fib.1	-	1	535	c.535T>A	c.(535-537)TTC>ATC	p.F179I	GHSR_uc011bpv.1_Missense_Mutation_p.F179I	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	179	Helical; Name=4; (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			lung(3)|ovary(1)|central_nervous_system(1)	5	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ACTAGCACGAAGATGGGCCCG	0.662													T	172165669	A	T	172165669	3	4	137	1	0	0	0	0	1	0	0	0	6375	72	3	5	647	5	GHSR	3	172165669	Missense_Mutation	SNP	A	TCGA-CD-5802-01A-11D-1600-08	33496382	172165669	25856761	13	79429											
TBCCD1	55171	broad.mit.edu	37	chr3	186272188	186272190	+	In_Frame_Del	DEL	AGA	AGA	-													aaagggaataataaatacatAgaattcacaaggtggtaaaa					rs144228045		TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr3:186272187_186272189TAGA>T	uc003fqg.3	-	5	1527_1529	c.1398_1400TCTA>A	c.(1396-1401)ttctat>ttAt	p.466_467FY>L	TBCCD1_uc011bry.2_In_Frame_Del_p.466_467FY>L|TBCCD1_uc003fqh.3_In_Frame_Del_p.370_371FY>L	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	Homo sapiens TBCC domain containing 1 (TBCCD1), transcript variant 2, mRNA.	466					cell morphogenesis|maintenance of Golgi location|maintenance of centrosome location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding	p.F466L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		AATAAATACATAGAATTCACAAG	0.443													-	186272190	AGA	-	186272188	7	5	137	1	0	1	0	1	0	0	0	0	15629	420	15	0	282	0	TBCCD1	3	186272188	In_Frame_Del	DEL	AGA	TCGA-CD-5802-01A-11D-1600-08	14106519	186272188	11750242	14	79430											
TBCCD1	55171	broad.mit.edu	37	chr3	186272346	186272346	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgaaaaggggcaaaagttActgtctggttcccagagaga	12	6	1	3			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr3:186272346A>G	uc003fqg.2	-	6	1370	c.1241T>C	c.(1240-1242)GTA>GCA	p.V414A	TBCCD1_uc011bry.1_Missense_Mutation_p.V414A|TBCCD1_uc003fqh.2_Missense_Mutation_p.V318A	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	414	C-CAP/cofactor C-like.				cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			large_intestine(1)|ovary(1)	2	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		GGCAAAAGTTACTGTCTGGTT	0.458													G	186272346	A	G	186272346	3	3	137	1	0	0	0	0	1	0	0	0	15629	391	14	3	440	3	TBCCD1	3	186272346	Missense_Mutation	SNP	A	TCGA-CD-5802-01A-11D-1600-08	158	186272346	11750084	15	79431											
RFC4	5984	broad.mit.edu	37	chr3	186509621	186509621	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagtctccttctgacacttTaacaagataagctattccct	4	11	2	2			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr3:186509621T>C	uc003fqz.2	-	8	917	c.694A>G	c.(694-696)AAA>GAA	p.K232E	RFC4_uc011bsc.1_Missense_Mutation_p.K232E|RFC4_uc011bsd.1_Missense_Mutation_p.K232E	NM_002916	NP_002907	P35249	RFC4_HUMAN	replication factor C 4	232					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TCTGACACTTTAACAAGATAA	0.323													C	186509621	T	C	186509621	3	2	137	1	0	0	0	0	1	0	0	0	13247	1763	61	3	413	3	RFC4	3	186509621	Missense_Mutation	SNP	T	TCGA-CD-5802-01A-11D-1600-08	237275	186509621	11512809	16	79432											
C4orf50	389197	broad.mit.edu	37	chr4	5969171	5969171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgtcatctcagacttgaCgtccaggtggtggcttgtct	12	11	3	2			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr4:5969171C>T	uc003git.1	-	5	517	c.427G>A	c.(427-429)GTC>ATC	p.V143I		NM_207405	NP_997288	Q6ZRC1	CD050_HUMAN	hypothetical protein LOC389197	143										pancreas(2)|breast(1)	3						TCAGACTTGACGTCCAGGTGG	0.512													T	5969171	C	T	5969171	3	4	137	1	0	0	0	0	1	0	0	0	2276	536	19	1	415	1	C4orf50	4	5969171	Missense_Mutation	SNP	C	TCGA-CD-5802-01A-11D-1600-08		5969171	185185105	17	79433											
ASB5	140458	broad.mit.edu	37	chr4	177142387	177142387	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agttcccaaatgaggaatttCttggtcaacatctatgcccc	7	11	3	1			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr4:177142387C>A	uc003iuq.1	-	5	605	c.589G>T	c.(589-591)GAA>TAA	p.E197*	ASB5_uc003iup.1_Nonsense_Mutation_p.E144*	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box-containing protein	197					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)		TGAGGAATTTCTTGGTCAACA	0.418													A	177142387	C	A	177142387	4	1	137	1	0	0	0	0	0	1	0	0	1026	922	32	5	412	5	ASB5	4	177142387	Nonsense_Mutation	SNP	C	TCGA-CD-5802-01A-11D-1600-08	171173216	177142387	14011889	18	79434											
KIAA0947	23379	broad.mit.edu	37	chr5	5463022	5463022	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggattatagttcaggggactCtgtttctgaatgttctagta	11	5	4	1			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr5:5463022C>T	uc003jdm.3	+	13	3797	c.3575C>T	c.(3574-3576)TCT>TTT	p.S1192F		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1192										ovary(1)|central_nervous_system(1)	2						TCAGGGGACTCTGTTTCTGAA	0.373													T	5463022	C	T	5463022	3	4	137	1	0	0	0	0	1	0	0	0	8202	913	32	4	3625	4	KIAA0947	5	5463022	Missense_Mutation	SNP	C	TCGA-CD-5802-01A-11D-1600-08		5463022	175452238	19	79435											
ENC1	8507	broad.mit.edu	37	chr5	73931260	73931260	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atcttttgagaccccattttCagacccccgccccccagtaa	5	17	2	2	rs144525141		TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr5:73931260C>G	uc003kdc.3	-	2	2182	c.1051G>C	c.(1051-1053)GAA>CAA	p.E351Q	ENC1_uc011css.1_Missense_Mutation_p.E278Q	NM_003633	NP_003624	O14682	ENC1_HUMAN	ectodermal-neural cortex (with BTB-like domain)	351	Kelch 2.				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			ovary(1)|pancreas(1)|skin(1)	3		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		ACCCCATTTTCAGACCCCCGC	0.532													G	73931260	C	G	73931260	3	3	137	1	0	0	0	0	1	0	0	0	5113	835	29	5	722	5	ENC1	5	73931260	Missense_Mutation	SNP	C	TCGA-CD-5802-01A-11D-1600-08	68468238	73931260	106984000	20	79436											
F12	2161	broad.mit.edu	37	chr5	176832124	176832124	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctggccacagctgcttgctCagttctataccatatctcat	6	13	4	0			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr5:176832124C>T	uc003mgo.3	-	6	509	c.460G>A	c.(460-462)GAG>AAG	p.E154K	F12_uc011dfy.1_5'Flank|F12_uc003mgn.3_5'Flank|F12_uc010jkl.2_RNA	NM_000505	NP_000496	P00748	FA12_HUMAN	coagulation factor XII precursor	154	Fibronectin type-I.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGCTTGCTCAGTTCTATAC	0.562									Hereditary_Angioedema				T	176832124	C	T	176832124	3	4	137	1	0	0	0	0	1	0	0	0	5339	835	29	4	1423	4	F12	5	176832124	Missense_Mutation	SNP	C	TCGA-CD-5802-01A-11D-1600-08	102900864	176832124	4083136	21	79437											
HIST1H1E	3008	broad.mit.edu	37	chr6	26156976	26156976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggaagccaagcctaagGctaaaaaggcaggcgcggcc	15	11	0	0			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr6:26156976G>A	uc003ngq.2	+	1	418	c.358G>A	c.(358-360)GCT>ACT	p.A120T	HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	histone cluster 1, H1e	120					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			large_intestine(1)|ovary(1)	2						CAAGCCTAAGGCTAAAAAGGC	0.642													A	26156976	G	A	26156976	3	1	137	1	0	0	0	0	1	0	0	0	7126	1203	42	2	360	2	HIST1H1E	6	26156976	Missense_Mutation	SNP	G	TCGA-CD-5802-01A-11D-1600-08		26156976	144958091	22	79438											
ZNF187	7741	broad.mit.edu	37	chr6	28240525	28240525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagtacaggaacagcaggttCggcatgagtgtgaagttaca	14	6	0	2			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr6:28240525C>T	uc011dld.1	+	4	766	c.496C>T	c.(496-498)CGG>TGG	p.R166W	ZNF187_uc011dlc.1_Missense_Mutation_p.R167W|ZNF187_uc003nku.3_Missense_Mutation_p.R32W|ZNF187_uc003nkw.3_Missense_Mutation_p.R13W|ZNF187_uc011dle.1_Missense_Mutation_p.R13W|ZNF187_uc011dlf.1_Intron|ZNF187_uc011dlg.1_Missense_Mutation_p.R13W	NM_001111039	NP_001104509	Q16670	ZN187_HUMAN	zinc finger protein 187 isoform b	166					viral reproduction	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ACAGCAGGTTCGGCATGAGTG	0.478													T	28240525	C	T	28240525	3	4	137	1	0	0	0	0	1	0	0	0	17750	875	31	1	504	1	ZNF187	6	28240525	Missense_Mutation	SNP	C	TCGA-CD-5802-01A-11D-1600-08	2083549	28240525	142874542	23	79439											
ZFP57	346171	broad.mit.edu	37	chr6	29643828	29643828	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actgccacatcctcaaaggtGactggcttctggaagaacag	10	11	2	2			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr6:29643828G>A	uc011dlw.1	-	2	283	c.132C>T	c.(130-132)GTC>GTT	p.V44V	ZFP57_uc003nnl.3_Silent_p.V24V	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	16	KRAB.				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)|skin(2)	5						CCTCAAAGGTGACTGGCTTCT	0.378													A	29643828	G	A	29643828	2	1	137	1	0	0	0	0	0	0	0	1	17648	1277	45	4		4	ZFP57	6	29643828	Silent	SNP	G	TCGA-CD-5802-01A-11D-1600-08	1403303	29643828	141471239	24	79440											
RING1	6015	broad.mit.edu	37	chr6	33177736	33177736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagaagctggtgtccaagcGatccctacggccagacccca	10	14	0	2			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr6:33177736G>A	uc003odk.2	+	4	478	c.284G>A	c.(283-285)CGA>CAA	p.R95Q	RING1_uc011dqx.1_Missense_Mutation_p.R95Q|RING1_uc003odl.2_Missense_Mutation_p.R66Q	NM_002931	NP_002922	Q06587	RING1_HUMAN	ring finger protein 1	95	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GTGTCCAAGCGATCCCTACGG	0.562													A	33177736	G	A	33177736	3	1	137	1	0	0	0	0	1	0	0	0	13374	1058	37	1	294	1	RING1	6	33177736	Missense_Mutation	SNP	G	TCGA-CD-5802-01A-11D-1600-08	3533908	33177736	137937331	25	79441											
SMOC2	64094	broad.mit.edu	37	chr6	168910683	168910683	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctctgcgcatctgacggaaGgaccttcctttcccgttgtg	10	13	2	1			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr6:168910683G>T	uc003qws.1	+	2	193	c.173G>T	c.(172-174)AGG>ATG	p.R58M	SMOC2_uc003qwr.1_Missense_Mutation_p.R58M	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	58	Kazal-like.				signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TCTGACGGAAGGACCTTCCTT	0.468													T	168910683	G	T	168910683	3	4	137	1	0	0	0	0	1	0	0	0	14802	1000	35	5	179	5	SMOC2	6	168910683	Missense_Mutation	SNP	G	TCGA-CD-5802-01A-11D-1600-08	135732947	168910683	2204384	26	79442											
RNF216	54476	broad.mit.edu	37	chr7	5781105	5781105	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaagaaggctaccttcttcCaagatgatgactttctgctc	7	10	2	4			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr7:5781105C>A	uc003soy.1	-	4	562	c.372G>T	c.(370-372)TTG>TTT	p.L124F	RNF216_uc010ksz.1_5'UTR|RNF216_uc010kta.1_Intron|RNF216_uc011jwj.1_Intron|RNF216_uc003sox.1_Missense_Mutation_p.L181F	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	124					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TACCTTCTTCCAAGATGATGA	0.458													A	5781105	C	A	5781105	3	1	137	1	0	0	0	0	1	0	0	0	13480	593	21	5	2284	5	RNF216	7	5781105	Missense_Mutation	SNP	C	TCGA-CD-5802-01A-11D-1600-08		5781105	153357558	27	79443											
CREB5	9586	broad.mit.edu	37	chr7	28844124	28844124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacatccgcccctgcacacCggcaaccaagcacaggtaga	8	18	0	1			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr7:28844124C>T	uc003szq.2	+	8	1401	c.1011C>T	c.(1009-1011)ACC>ACT	p.T337T	CREB5_uc003szo.2_Silent_p.T304T|CREB5_uc003szr.2_Silent_p.T330T|CREB5_uc003szs.2_Silent_p.T198T	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	337					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						CCCTGCACACCGGCAACCAAG	0.363													T	28844124	C	T	28844124	2	4	137	1	0	0	0	0	0	0	0	1	3860	639	23	1		1	CREB5	7	28844124	Silent	SNP	C	TCGA-CD-5802-01A-11D-1600-08	23063019	28844124	130294539	28	79444											
ESCO2	157570	broad.mit.edu	37	chr8	27660907	27660907	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatggcaagttatttgcaacCaagtactgcaacacccctaa	7	11	0	0			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr8:27660907C>G	uc003xgg.2	+	11	1841	c.1758C>G	c.(1756-1758)ACC>ACG	p.T586T	ESCO2_uc010luy.1_Intron	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	establishment of cohesion 1 homolog 2	586					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			central_nervous_system(1)	1		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TATTTGCAACCAAGTACTGCA	0.358									SC_Phocomelia_syndrome				G	27660907	C	G	27660907	2	3	137	1	0	0	0	0	0	0	0	1	5249	581	21	5		5	ESCO2	8	27660907	Silent	SNP	C	TCGA-CD-5802-01A-11D-1600-08		27660907	118703115	29	79445											
SULF1	23213	broad.mit.edu	37	chr8	70536309	70536309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaagaaacattgctaagcGtcatgatgaaggccacaagg	10	9	1	3			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr8:70536309G>A	uc010lza.1	+	15	2444	c.1727G>A	c.(1726-1728)CGT>CAT	p.R576H	SULF1_uc003xyd.2_Missense_Mutation_p.R576H|SULF1_uc003xye.2_Missense_Mutation_p.R576H|SULF1_uc003xyf.2_Missense_Mutation_p.R576H|SULF1_uc003xyg.2_Missense_Mutation_p.R576H|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	576					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATTGCTAAGCGTCATGATGAA	0.498													A	70536309	G	A	70536309	3	1	137	1	0	0	0	0	1	0	0	0	15369	1145	40	1	1769	1	SULF1	8	70536309	Missense_Mutation	SNP	G	TCGA-CD-5802-01A-11D-1600-08	42875402	70536309	75827713	30	79446											
FREM1	158326	broad.mit.edu	37	chr9	14748594	14748594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatgcccttctcccatgtGctgtgcttgctttggttgga	10	11	1	0			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr9:14748594G>A	uc003zlm.2	-	31	6191	c.5601C>T	c.(5599-5601)AGC>AGT	p.S1867S	FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_Intron|FREM1_uc003zll.2_Silent_p.S403S	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	1867					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		TCTCCCATGTGCTGTGCTTGC	0.493													A	14748594	G	A	14748594	2	1	137	1	0	0	0	0	0	0	0	1	6044	1310	46	2		2	FREM1	9	14748594	Silent	SNP	G	TCGA-CD-5802-01A-11D-1600-08		14748594	126464837	31	79447											
C9orf131	138724	broad.mit.edu	37	chr9	35045805	35045805	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccttaccaggggtttgcAaaaggtgttagccaaatgcc	10	10	0	0			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr9:35045805A>G	uc003zvw.2	+	2	3208	c.3179A>G	c.(3178-3180)CAA>CGA	p.Q1060R	C9orf131_uc003zvu.2_Missense_Mutation_p.Q1012R|C9orf131_uc003zvv.2_Missense_Mutation_p.Q987R|C9orf131_uc003zvx.2_Missense_Mutation_p.Q1025R	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	hypothetical protein LOC138724 isoform A	1060											0	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGGGGTTTGCAAAAGGTGTTA	0.512													G	35045805	A	G	35045805	3	3	137	1	0	0	0	0	1	0	0	0	2457	130	5	3	3201	3	C9orf131	9	35045805	Missense_Mutation	SNP	A	TCGA-CD-5802-01A-11D-1600-08	20297211	35045805	106167626	32	79448											
DAPK1	1612	broad.mit.edu	37	chr9	90321137	90321137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggggaagttgctgtccGtggagaccccacgggcgctg	16	12	0	1			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr9:90321137G>A	uc004apc.2	+	26	3289	c.3151G>A	c.(3151-3153)GTG>ATG	p.V1051M	DAPK1_uc004apd.2_Missense_Mutation_p.V1051M|DAPK1_uc011ltg.1_Missense_Mutation_p.V985M|DAPK1_uc011lth.1_Missense_Mutation_p.V788M|DAPK1_uc004apg.2_Missense_Mutation_p.V28M	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1051					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						GTTGCTGTCCGTGGAGACCCC	0.642									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				A	90321137	G	A	90321137	3	1	137	1	0	0	0	0	1	0	0	0	4235	1145	40	1	3249	1	DAPK1	9	90321137	Missense_Mutation	SNP	G	TCGA-CD-5802-01A-11D-1600-08	55275332	90321137	50892294	33	79449											
ANKS6	203286	broad.mit.edu	37	chr9	101536246	101536246	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtctgccttcccgttgtgAcgcgtccgggaccgatcaga	14	13	2	2			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr9:101536246A>G	uc004ayu.2	-	9	1755	c.1734T>C	c.(1732-1734)CGT>CGC	p.R578R	ANKS6_uc004ayt.2_Silent_p.R277R|ANKS6_uc004ayv.1_Silent_p.R40R|ANKS6_uc004ayw.1_Silent_p.R160R|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	578										ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				TCCCGTTGTGACGCGTCCGGG	0.627													G	101536246	A	G	101536246	2	3	137	1	0	0	0	0	0	0	0	1	692	262	10	3		3	ANKS6	9	101536246	Silent	SNP	A	TCGA-CD-5802-01A-11D-1600-08	11215109	101536246	39677185	34	79450											
USP54	159195	broad.mit.edu	37	chr10	75258563	75258563	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcgaggaccaggggttcGggaccctggaacaggatctg	15	10	2	0			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr10:75258563G>A	uc001juo.2	-	22	4896	c.4879C>T	c.(4879-4881)CGA>TGA	p.R1627*	PPP3CB_uc001juf.2_5'Flank|PPP3CB_uc001jue.2_5'Flank|PPP3CB_uc001jug.2_5'Flank|PPP3CB_uc001jui.2_5'Flank|PPP3CB_uc001juh.2_5'Flank|USP54_uc010qkk.1_Nonsense_Mutation_p.R762*|USP54_uc001juk.2_Nonsense_Mutation_p.R715*|USP54_uc001jul.2_Nonsense_Mutation_p.R668*|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1627					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					CCAGGGGTTCGGGACCCTGGA	0.552													A	75258563	G	A	75258563	4	1	137	1	0	0	0	0	0	1	0	0	17082	1124	39	1	179	1	USP54	10	75258563	Nonsense_Mutation	SNP	G	TCGA-CD-5802-01A-11D-1600-08		75258563	60276184	35	79451											
PRR5L	79899	broad.mit.edu	37	chr11	36484155	36484155	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaacaagtgcctgctcctgCcacccagcttccccccgccc	7	21	0	1			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr11:36484155C>A	uc001mwo.3	+	9	1365	c.976C>A	c.(976-978)CCA>ACA	p.P326T	PRR5L_uc001mwp.2_Missense_Mutation_p.P326T|PRR5L_uc009ykk.2_Missense_Mutation_p.P198T|PRR5L_uc010rfc.1_3'UTR	NM_001160167	NP_001153639	Q6MZQ0	PRR5L_HUMAN	protor-2 isoform a	326										ovary(1)	1						CCTGCTCCTGCCACCCAGCTT	0.677													A	36484155	C	A	36484155	3	1	137	1	0	0	0	0	1	0	0	0	12602	739	26	5	1012	5	PRR5L	11	36484155	Missense_Mutation	SNP	C	TCGA-CD-5802-01A-11D-1600-08		36484155	98522361	36	79452											
ARFGAP2	84364	broad.mit.edu	37	chr11	47196833	47196833	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atttggtgttggcatcattgGctgtgcatccatgttggcga	13	7	1	0			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr11:47196833G>C	uc001ndt.2	-	4	311	c.296C>G	c.(295-297)GCC>GGC	p.A99G	ARFGAP2_uc010rha.1_5'Flank|ARFGAP2_uc010rhb.1_Missense_Mutation_p.A99G|ARFGAP2_uc001ndu.2_Intron|ARFGAP2_uc010rhc.1_Intron|ARFGAP2_uc010rhd.1_Missense_Mutation_p.A99G|ARFGAP2_uc001ndv.1_3'UTR	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating	99	Required for interaction with coatomer.|Arf-GAP.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			ovary(1)	1						GGCATCATTGGCTGTGCATCC	0.547													C	47196833	G	C	47196833	3	2	137	1	0	0	0	0	1	0	0	0	850	1203	42	5	1321	5	ARFGAP2	11	47196833	Missense_Mutation	SNP	G	TCGA-CD-5802-01A-11D-1600-08	10712678	47196833	87809683	37	79453											
MS4A14	84689	broad.mit.edu	37	chr11	60183690	60183690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcagcgcatgccatattaCctgaagcctcaacatcccat	5	14	2	1			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr11:60183690C>T	uc001npj.2	+	5	1814	c.1249C>T	c.(1249-1251)CCT>TCT	p.P417S	MS4A14_uc001npi.2_Missense_Mutation_p.P305S|MS4A14_uc001npn.2_Missense_Mutation_p.P155S|MS4A14_uc001npk.2_Missense_Mutation_p.P400S|MS4A14_uc001npl.2_Missense_Mutation_p.P155S|MS4A14_uc001npm.2_Missense_Mutation_p.P155S	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	417						integral to membrane	receptor activity			breast(1)	1						tgccatATTACCTGAAGCCTC	0.234													T	60183690	C	T	60183690	3	4	137	1	0	0	0	0	1	0	0	0	9858	507	18	4	1267	4	MS4A14	11	60183690	Missense_Mutation	SNP	C	TCGA-CD-5802-01A-11D-1600-08	12986857	60183690	74822826	38	79454											
FIBP	9158	broad.mit.edu	37	chr11	65655421	65655421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacctctcgatgagtagtgCctgccgggagggcggaatct	15	11	2	1			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr11:65655421C>T	uc001ogd.2	-	2	389	c.268G>A	c.(268-270)GCA>ACA	p.A90T	FIBP_uc009yqu.2_Missense_Mutation_p.A87T|FIBP_uc001oge.2_Missense_Mutation_p.A90T|FIBP_uc010roq.1_Missense_Mutation_p.A90T|FIBP_uc010ror.1_Missense_Mutation_p.A90T|CCDC85B_uc001ogf.2_5'Flank	NM_198897	NP_942600	O43427	FIBP_HUMAN	FGF intracellular binding protein isoform a	90					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.166)		ATGAGTAGTGCCTGCCGGGAG	0.433													T	65655421	C	T	65655421	3	4	137	1	0	0	0	0	1	0	0	0	5886	739	26	2	862	2	FIBP	11	65655421	Missense_Mutation	SNP	C	TCGA-CD-5802-01A-11D-1600-08	5471731	65655421	69351095	39	79455											
WNK1	65125	broad.mit.edu	37	chr12	1005298	1005298	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taagtcagaagatgcaaagtCtgttcattttgaatccagca	8	7	3	3			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr12:1005298C>T	uc001qio.3	+	24	6152	c.5645C>T	c.(5644-5646)TCT>TTT	p.S1882F	WNK1_uc001qip.3_Missense_Mutation_p.S1634F|WNK1_uc001qir.3_Missense_Mutation_p.S1055F	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1882					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GATGCAAAGTCTGTTCATTTT	0.423													T	1005298	C	T	1005298	3	4	137	1	0	0	0	0	1	0	0	0	17374	913	32	4	7241	4	WNK1	12	1005298	Missense_Mutation	SNP	C	TCGA-CD-5802-01A-11D-1600-08		1005298	132846597	40	79456											
GALNT8	26290	broad.mit.edu	37	chr12	4853826	4853826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctgccacagcagacgtgGtcgccatcttggatgctcac	11	13	2	1			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr12:4853826G>A	uc001qne.1	+	4	912	c.820G>A	c.(820-822)GTC>ATC	p.V274I		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	274	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(1)|skin(1)	4						AGCAGACGTGGTCGCCATCTT	0.498													A	4853826	G	A	4853826	3	1	137	1	0	0	0	0	1	0	0	0	6219	1261	44	4	834	4	GALNT8	12	4853826	Missense_Mutation	SNP	G	TCGA-CD-5802-01A-11D-1600-08	3848528	4853826	128998069	41	79457											
GSG1	83445	broad.mit.edu	37	chr12	13241798	13241798	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccagtagtcctttctcacctCtcttggctggtggtgtaagt	10	11	2	0			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr12:13241798C>T	uc001rbn.2	-	4	652	c.479G>A	c.(478-480)AGA>AAA	p.R160K	GSG1_uc001rbj.2_Missense_Mutation_p.R124K|GSG1_uc001rbk.2_Missense_Mutation_p.R124K|GSG1_uc001rbl.2_Missense_Mutation_p.R147K|GSG1_uc001rbm.2_Missense_Mutation_p.R124K|GSG1_uc001rbo.2_Missense_Mutation_p.R160K|GSG1_uc001rbp.2_Missense_Mutation_p.R137K|GSG1_uc001rbq.1_Missense_Mutation_p.R160K	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	germ cell associated 1 isoform 4	147						endoplasmic reticulum membrane|integral to membrane					0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TTTCTCACCTCTCTTGGCTGG	0.527													T	13241798	C	T	13241798	3	4	137	1	0	0	0	0	1	0	0	0	6820	913	32	4	749	4	GSG1	12	13241798	Missense_Mutation	SNP	C	TCGA-CD-5802-01A-11D-1600-08	8387972	13241798	120610097	42	79458											
DGKA	1606	broad.mit.edu	37	chr12	56334503	56334503	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttccatctatcccagtgtCctggtgagaccctcggcagc	9	15	2	1			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr12:56334503C>T	uc001sij.2	+	12	1278	c.1014C>T	c.(1012-1014)GTC>GTT	p.V338V	DGKA_uc009zoc.1_Silent_p.V338V|DGKA_uc001sih.1_Silent_p.V226V|DGKA_uc001sii.1_Silent_p.V196V|DGKA_uc009zod.1_Silent_p.V257V|DGKA_uc001sik.2_Silent_p.V338V|DGKA_uc001sil.2_Silent_p.V338V|DGKA_uc001sim.2_Silent_p.V338V|DGKA_uc001sin.2_Silent_p.V338V|DGKA_uc009zof.2_5'UTR|DGKA_uc001sio.2_Silent_p.V80V	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	338					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	ATCCCAGTGTCCTGGTGAGAC	0.572											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	56334503	C	T	56334503	2	4	137	1	0	0	0	0	0	0	0	1	4465	842	30	4		4	DGKA	12	56334503	Silent	SNP	C	TCGA-CD-5802-01A-11D-1600-08	43092705	56334503	77517392	43	79459											
DGKA	1606	broad.mit.edu	37	chr12	56335359	56335359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacctcctaaaggatggtcCtgagatagggtgagcacagg	13	9	0	2			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr12:56335359C>T	uc001sij.2	+	15	1505	c.1241C>T	c.(1240-1242)CCT>CTT	p.P414L	DGKA_uc001sih.1_Missense_Mutation_p.P302L|DGKA_uc001sii.1_Missense_Mutation_p.P272L|DGKA_uc009zod.1_Missense_Mutation_p.P333L|DGKA_uc001sik.2_Missense_Mutation_p.P414L|DGKA_uc001sil.2_Missense_Mutation_p.P414L|DGKA_uc001sim.2_Missense_Mutation_p.P414L|DGKA_uc001sin.2_Missense_Mutation_p.P414L|DGKA_uc009zof.2_Missense_Mutation_p.P60L|DGKA_uc001sio.2_Missense_Mutation_p.P156L	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	414	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	AAGGATGGTCCTGAGATAGGG	0.473													T	56335359	C	T	56335359	3	4	137	1	0	0	0	0	1	0	0	0	4465	681	24	4	1295	4	DGKA	12	56335359	Missense_Mutation	SNP	C	TCGA-CD-5802-01A-11D-1600-08	856	56335359	77516536	44	79460											
SUOX	6821	broad.mit.edu	37	chr12	56397752	56397752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtcaacagccagcggccCtttaatgcagagcctccccc	9	16	1	1			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr12:56397752C>T	uc001six.2	+	6	905	c.579C>T	c.(577-579)CCC>CCT	p.P193P	SUOX_uc001siy.2_Silent_p.P193P|SUOX_uc001siz.2_Silent_p.P193P|SUOX_uc001sja.2_Silent_p.P193P	NM_000456	NP_000447	P51687	SUOX_HUMAN	sulfite oxidase precursor	193	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GCCAGCGGCCCTTTAATGCAG	0.547													T	56397752	C	T	56397752	2	4	137	1	0	0	0	0	0	0	0	1	15392	668	24	4		4	SUOX	12	56397752	Silent	SNP	C	TCGA-CD-5802-01A-11D-1600-08	62393	56397752	77454143	45	79461											
MLXIP	22877	broad.mit.edu	37	chr12	122615390	122615390	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctctgtgattcttgcaGcacatctgggaaatgcagac	9	11	4	2			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr12:122615390G>A	uc001ubq.2	+	7	911	c.911_splice	c.e7-1	p.A304_splice	MLXIP_uc001ubr.2_Splice_Site_p.A55_splice|MLXIP_uc001ubs.1_5'Flank|MLXIP_uc001ubt.2_5'Flank	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	MLX interacting protein						regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			ovary(2)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GATTCTTGCAGCACATCTGGG	0.502											OREG0022218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	122615390	G	A	122615390	5	1	137	1	0	0	0	0	0	0	1	0	9636	985	34	2	936	2	MLXIP	12	122615390	Splice_Site	SNP	G	TCGA-CD-5802-01A-11D-1600-08	66217638	122615390	11236505	46	79462											
MYCBP2	23077	broad.mit.edu	37	chr13	77671839	77671839	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaagaggagacttagacttCattgtgttatgcatggacat	12	5	1	3			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr13:77671839C>T	uc001vkf.2	-	57	9427	c.9336G>A	c.(9334-9336)ATG>ATA	p.M3112I	MYCBP2_uc010aev.2_Missense_Mutation_p.M2516I|MYCBP2_uc001vkg.1_Missense_Mutation_p.M635I|MYCBP2_uc010aew.2_Missense_Mutation_p.M498I	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACTTAGACTTCATTGTGTTAT	0.388													T	77671839	C	T	77671839	3	4	137	1	0	0	0	0	1	0	0	0	10018	826	29	4	4698	4	MYCBP2	13	77671839	Missense_Mutation	SNP	C	TCGA-CD-5802-01A-11D-1600-08		77671839	37498039	47	79463											
FANCM	57697	broad.mit.edu	37	chr14	45657009	45657009	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaatgagagctatttacatGaaatctttgcgtagtccaat	8	6	1	2			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr14:45657009G>A	uc001wwd.3	+	19	4797	c.4698G>A	c.(4696-4698)ATG>ATA	p.M1566I	FANCM_uc010anf.2_Missense_Mutation_p.M1540I|FANCM_uc001wwe.3_Missense_Mutation_p.M1102I|FANCM_uc010ang.2_Missense_Mutation_p.M780I	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1566					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						CTATTTACATGAAATCTTTGC	0.259								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				A	45657009	G	A	45657009	3	1	137	1	0	0	0	0	1	0	0	0	5671	1290	45	4	4772	4	FANCM	14	45657009	Missense_Mutation	SNP	G	TCGA-CD-5802-01A-11D-1600-08		45657009	61692531	48	79464											
ZFYVE26	23503	broad.mit.edu	37	chr14	68250043	68250043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggttctcagttgtcctcgGggagctcggtgtagaaagtg	16	7	1	1			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr14:68250043G>A	uc001xka.2	-	21	3965	c.3826C>T	c.(3826-3828)CCG>TCG	p.P1276S	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.P1276S	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1276					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTTGTCCTCGGGGAGCTCGGT	0.577													A	68250043	G	A	68250043	3	1	137	1	0	0	0	0	1	0	0	0	17665	1232	43	4	3881	4	ZFYVE26	14	68250043	Missense_Mutation	SNP	G	TCGA-CD-5802-01A-11D-1600-08	22593034	68250043	39099497	49	79465											
TJP1	7082	broad.mit.edu	37	chr15	30065540	30065545	+	In_Frame_Del	DEL	TCCAAA	TCCAAA	-													cgtccaccagatattgcaatTccaaatccaaatccaggagc							TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr15:30065539_30065544TTCCAAA>T	uc001zcr.3	-	2	576_581	c.101_106TTTGGAA>A	c.(100-108)tttggaatt>tAtt	p.34_36FGI>Y	TJP1_uc010azl.3_In_Frame_Del_p.22_24FGI>Y|TJP1_uc001zcq.3_In_Frame_Del_p.38_40FGI>Y|TJP1_uc001zcs.3_In_Frame_Del_p.34_36FGI>Y	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	34	PDZ 1.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GATATTGCAATTCCAAATCCAAATCC	0.364													-	30065545	TCCAAA	-	30065540	7	5	137	1	0	1	0	1	0	0	0	0	15926	1770	62	0	5245	0	TJP1	15	30065540	In_Frame_Del	DEL	TCCAAA	TCGA-CD-5802-01A-11D-1600-08		30065540	72465852	50	79466											
MAPKBP1	23005	broad.mit.edu	37	chr15	42115796	42115796	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaccaccagttccatggcCaagatatcccgcagtatctc	6	17	1	1			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr15:42115796C>A	uc001zok.3	+	30	4054	c.3768C>A	c.(3766-3768)GCC>GCA	p.A1256A	MAPKBP1_uc001zoj.3_Silent_p.A1250A|MAPKBP1_uc010bcj.2_Silent_p.A757A|MAPKBP1_uc010bci.2_Intron|MAPKBP1_uc010udb.1_Silent_p.A1089A|MAPKBP1_uc010bck.2_Silent_p.A467A|MAPKBP1_uc010bcl.2_Silent_p.A757A	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	1256										central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GTTCCATGGCCAAGATATCCC	0.617													A	42115796	C	A	42115796	2	1	137	1	0	0	0	0	0	0	0	1	9292	581	21	5		5	MAPKBP1	15	42115796	Silent	SNP	C	TCGA-CD-5802-01A-11D-1600-08	12050256	42115796	60415596	51	79467											
C17orf85	55421	broad.mit.edu	37	chr17	3716433	3716434	+	Nonsense_Mutation	DNP	GC	GC	AT													gctcttcttttggcgagactGctctttctccttaatcagag							TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr17:3716433_3716434GC>AT	uc010ckl.1	-	13	1790_1791	c.1767_1768GC>AT	c.(1765-1770)GAGCAG>GAATAG	p.Q590*	C17orf85_uc002fwr.2_Nonsense_Mutation_p.Q300*|C17orf85_uc002fwq.2_Nonsense_Mutation_p.Q310*	NM_001114118	NP_001107590	Q53F19	CQ085_HUMAN	ELG protein isoform a	590							nucleotide binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		TGGCGAGACTGCTCTTTCTCCT	0.515													AT	3716434	GC	AT	3716433	4	1	137	1	0	0	0	0	0	1	0	0	1888	1328	46	2	98	2	C17orf85	17	3716433	Nonsense_Mutation	DNP	GC	TCGA-CD-5802-01A-11D-1600-08		3716433	77478777	52	79468											
RHBDL3	162494	broad.mit.edu	37	chr17	30615917	30615917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggctgagcctctcgcagcGacttatccgccatgtggcct	13	14	1	1			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr17:30615917G>A	uc002hhe.1	+	4	415	c.401G>A	c.(400-402)CGA>CAA	p.R134Q	RHBDL3_uc010csw.1_Missense_Mutation_p.R126Q|RHBDL3_uc010csx.1_Missense_Mutation_p.R134Q|RHBDL3_uc010csy.1_Missense_Mutation_p.R36Q|RHBDL3_uc002hhf.1_Missense_Mutation_p.R36Q	NM_138328	NP_612201	P58872	RHBL3_HUMAN	rhomboid protease 3	134					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)				CTCTCGCAGCGACTTATCCGC	0.602													A	30615917	G	A	30615917	3	1	137	1	0	0	0	0	1	0	0	0	13323	1058	37	1	415	1	RHBDL3	17	30615917	Missense_Mutation	SNP	G	TCGA-CD-5802-01A-11D-1600-08	26899484	30615917	50579293	53	79469											
EFTUD2	9343	broad.mit.edu	37	chr17	42940215	42940215	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcacccggccaaaggcGtgaaactggactccatcatc	9	15	2	1	rs149288120		TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr17:42940215G>A	uc002ihn.2	-	16	1734	c.1473C>T	c.(1471-1473)CAC>CAT	p.H491H	EFTUD2_uc010wje.1_Silent_p.H456H|EFTUD2_uc010wjf.1_Silent_p.H481H	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	491						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				GGCCAAAGGCGTGAAACTGGA	0.557													A	42940215	G	A	42940215	2	1	137	1	0	0	0	0	0	0	0	1	4961	1136	40	1		1	EFTUD2	17	42940215	Silent	SNP	G	TCGA-CD-5802-01A-11D-1600-08	12324298	42940215	38254995	54	79470											
ABCA9	10350	broad.mit.edu	37	chr17	67004307	67004317	+	Frame_Shift_Del	DEL	CCAGTGCTTGG	CCAGTGCTTGG	-													aaagtacagggaaacatccaCcagtgcttggccaaaccagt					rs143208550	byFrequency	TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr17:67004306_67004316ACCAGTGCTTGG>A	uc002jhu.3	-	23	3351_3361	c.3208_3218CCAAGCACTGGT>T	c.(3208-3219)caagcactggtgfs	p.Q1070fs	ABCA9_uc010dez.3_Frame_Shift_Del_p.Q1070fs	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1070					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGAAACATCCACCAGTGCTTGGCCAAACCAG	0.37													-	67004317	CCAGTGCTTGG	-	67004307	7	5	137	1	0	1	0	1	0	0	0	0	39	507	18	0	1721	0	ABCA9	17	67004307	Frame_Shift_Del	DEL	CCAGTGCTTGG	TCGA-CD-5802-01A-11D-1600-08	24064092	67004307	14190903	55	79471											
PPP4R1	9989	broad.mit.edu	37	chr18	9595144	9595144	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactctgagctgtagtcatcCacaccaactatcagagacat	7	12	3	2			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr18:9595144C>T	uc002koe.1	-	3	178	c.60G>A	c.(58-60)GTG>GTA	p.V20V	PPP4R1_uc010wzo.1_5'UTR|PPP4R1_uc002kod.1_Intron|PPP4R1_uc010wzp.1_Intron	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	20	HEAT 1.				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			skin(1)	1						TGTAGTCATCCACACCAACTA	0.423													T	9595144	C	T	9595144	2	4	137	1	0	0	0	0	0	0	0	1	12403	581	21	4		4	PPP4R1	18	9595144	Silent	SNP	C	TCGA-CD-5802-01A-11D-1600-08		9595144	68482104	56	79472											
SUPT5H	6829	broad.mit.edu	37	chr19	39960816	39960816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcaagatgggggaccacGtgaaggtgattgctggccga	15	8	1	3			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr19:39960816G>A	uc002olo.3	+	17	1611	c.1432G>A	c.(1432-1434)GTG>ATG	p.V478M	SUPT5H_uc002olp.3_Missense_Mutation_p.V478M|SUPT5H_uc002olq.3_Missense_Mutation_p.V474M|SUPT5H_uc002oln.3_Missense_Mutation_p.V478M|SUPT5H_uc002olr.3_Missense_Mutation_p.V478M|SUPT5H_uc002ols.1_Missense_Mutation_p.V101M|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	478	KOW 3.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGGGACCACGTGAAGGTGAT	0.537													A	39960816	G	A	39960816	3	1	137	1	0	0	0	0	1	0	0	0	15396	1145	40	1	1494	1	SUPT5H	19	39960816	Missense_Mutation	SNP	G	TCGA-CD-5802-01A-11D-1600-08		39960816	19168167	57	79473											
LTBP4	8425	broad.mit.edu	37	chr19	41122902	41122902	+	Frame_Shift_Del	DEL	C	C	-													cctgtgaccctggctatcagCccacgccagggggcggatgc							TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr19:41122901_41122901GC>G	uc002ooh.1	+	22	3120	c.3120_3120GC>G	c.(3118-3120)cagfs	p.Q1040fs	LTBP4_uc002oog.1_Frame_Shift_Del_p.Q1003fs|LTBP4_uc002ooi.1_Frame_Shift_Del_p.Q973fs|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Intron|LTBP4_uc002ool.1_Intron|LTBP4_uc002oom.1_Intron|LTBP4_uc010xvp.1_Intron	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	1040	Cys-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGGCTATCAGCCCACGCCAG	0.592													-	41122902	C	-	41122902	7	5	137	1	0	1	0	1	0	0	0	0	9076	739	26	0	3504	0	LTBP4	19	41122902	Frame_Shift_Del	DEL	C	TCGA-CD-5802-01A-11D-1600-08	1162086	41122902	18006081	58	79474											
CKM	1158	broad.mit.edu	37	chr19	45815134	45815134	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttctccgtcatgctcttcaGagggtagtacttccctttga	8	12	4	2			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr19:45815134G>A	uc002pbd.2	-	5	600	c.526C>T	c.(526-528)CTG>TTG	p.L176L		NM_001824	NP_001815	P06732	KCRM_HUMAN	muscle creatine kinase	176	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			skin(1)	1		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	ATGCTCTTCAGAGGGTAGTAC	0.607													A	45815134	G	A	45815134	2	1	137	1	0	0	0	0	0	0	0	1	3448	933	33	4		4	CKM	19	45815134	Silent	SNP	G	TCGA-CD-5802-01A-11D-1600-08	4692232	45815134	13313849	59	79475											
EMILIN3	90187	broad.mit.edu	37	chr20	39991532	39991532	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccctcagggatgaccccaAagcccacagggacagcagga	12	15	1	1			TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr20:39991532A>G	uc002xjy.1	-	4	901	c.677T>C	c.(676-678)TTT>TCT	p.F226S		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	226						proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)				GATGACCCCAAAGCCCACAGG	0.607													G	39991532	A	G	39991532	3	3	137	1	0	0	0	0	1	0	0	0	5095	14	1	3	1627	3	EMILIN3	20	39991532	Missense_Mutation	SNP	A	TCGA-CD-5802-01A-11D-1600-08		39991532	23033988	60	79476											
SREBF2	6721	broad.mit.edu	37	chr22	42262865	42262866	+	Frame_Shift_Del	DEL	GA	GA	-													atttgtcagtaatcaagtggGagagttccctgacttgtttt							TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chr22:42262864_42262865GGA>G	uc003bbi.3	+	1	287_288	c.118_119GGA>G	c.(118-120)ggafs	p.G40fs	bK250D10.C22.8_uc003bba.1_Intron	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	40	Transcriptional activation (acidic).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TAATCAAGTGGGAGAGTTCCCT	0.45													-	42262866	GA	-	42262865	7	5	137	1	0	1	0	1	0	0	0	0	15141	1174	41	0	125	0	SREBF2	22	42262865	Frame_Shift_Del	DEL	GA	TCGA-CD-5802-01A-11D-1600-08		42262865	9041701	61	79477											
IDH3G	3421	broad.mit.edu	37	chrX	153052343	153052343	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccgcgcagacattgttgacGatgttgccatagagattggg	13	9	0	3	rs141309746		TCGA-CD-5802-01A-11D-1600-08	TCGA-CD-5802-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b44966-0f72-4c4f-8783-ab3ffe7f17b2	af722e36-4912-45c4-b431-a2ceff596bac	g.chrX:153052343G>A	uc004fip.2	-	10	1023	c.837C>T	c.(835-837)ATC>ATT	p.I279I	IDH3G_uc004fio.2_Silent_p.I221I|IDH3G_uc004fiq.2_Silent_p.I279I|IDH3G_uc010num.2_Silent_p.I221I|IDH3G_uc004fir.2_Silent_p.I221I|IDH3G_uc004fit.1_Silent_p.I279I|IDH3G_uc004fis.2_Silent_p.I221I|IDH3G_uc004fiu.2_Silent_p.I55I	NM_004135	NP_004126	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma isoform	279					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CATTGTTGACGATGTTGCCAT	0.607													A	153052343	G	A	153052343	2	1	137	1	0	0	0	0	0	0	0	1	7498	1048	37	1		1	IDH3G	23	153052343	Silent	SNP	G	TCGA-CD-5802-01A-11D-1600-08		153052343	2218217	62	79478											
ARID1A	8289	broad.mit.edu	37	chr1	27059176	27059176	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcttgttgtaggagctatctCaagattcatttgggtctcag	10	7	4	1			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr1:27059176C>T	uc001bmv.1	+	4	2186	c.1813C>T	c.(1813-1815)CAA>TAA	p.Q605*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q605*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q605*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q222*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	605					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGAGCTATCTCAAGATTCATT	0.483			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								T	27059176	C	T	27059176	4	4	138	1	0	0	0	0	0	1	0	0	913	827	29	4	1827	4	ARID1A	1	27059176	Nonsense_Mutation	SNP	C	TCGA-CD-5803-01A-11D-1600-08		27059176	222191445	1	79479											
VAV3	10451	broad.mit.edu	37	chr1	108247235	108247235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttgtgtgctctcgctcCacacttaaaacataaatagc	5	11	2	0			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr1:108247235C>T	uc001dvk.1	-	17	1696	c.1642G>A	c.(1642-1644)GGA>AGA	p.G548R	VAV3_uc010ouw.1_Missense_Mutation_p.G548R|VAV3_uc001dvl.1_Missense_Mutation_p.G372R|VAV3_uc010oux.1_Missense_Mutation_p.G548R	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	548	Phorbol-ester/DAG-type.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GCTCTCGCTCCACACTTAAAA	0.353													T	108247235	C	T	108247235	3	4	138	1	0	0	0	0	1	0	0	0	17130	603	21	4	970	4	VAV3	1	108247235	Missense_Mutation	SNP	C	TCGA-CD-5803-01A-11D-1600-08	81188059	108247235	141003386	2	79480											
OR2T27	403239	broad.mit.edu	37	chr1	248813773	248813773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcaaccagcagatcttgCggctcatgaggacaggatag	11	10	3	2			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr1:248813773C>T	uc010pzo.1	-	1	413	c.413G>A	c.(412-414)CGC>CAC	p.R138H		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAGATCTTGCGGCTCATGAG	0.557													T	248813773	C	T	248813773	3	4	138	1	0	0	0	0	1	0	0	0	11021	768	27	1	543	1	OR2T27	1	248813773	Missense_Mutation	SNP	C	TCGA-CD-5803-01A-11D-1600-08	140566538	248813773	436848	3	79481											
CNTNAP5	129684	broad.mit.edu	37	chr2	125660527	125660527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctggatgcatgtcttccGtccagtacaaccacatagca	8	12	1	0			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr2:125660527G>A	uc002tno.2	+	22	3866	c.3502G>A	c.(3502-3504)GTC>ATC	p.V1168I	CNTNAP5_uc010flu.2_Missense_Mutation_p.V1169I	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	1168	Extracellular (Potential).|Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.V1168I(1)		ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CATGTCTTCCGTCCAGTACAA	0.493													A	125660527	G	A	125660527	3	1	138	1	0	0	0	0	1	0	0	0	3650	1145	40	1	3588	1	CNTNAP5	2	125660527	Missense_Mutation	SNP	G	TCGA-CD-5803-01A-11D-1600-08		125660527	117538846	4	79482											
FANCD2	2177	broad.mit.edu	37	chr3	10081483	10081483	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acatcatcaccagcctacctGagatcctaggggattcccag	8	14	2	1			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr3:10081483G>A	uc003buw.2	+	9	727	c.649G>A	c.(649-651)GAG>AAG	p.E217K	FANCD2_uc003bux.1_Missense_Mutation_p.E217K|FANCD2_uc003buy.1_Missense_Mutation_p.E217K|FANCD2_uc003buv.2_Missense_Mutation_p.E217K	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	217	Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CAGCCTACCTGAGATCCTAGG	0.502			D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				A	10081483	G	A	10081483	3	1	138	1	0	0	0	0	1	0	0	0	5665	1291	45	4	679	4	FANCD2	3	10081483	Missense_Mutation	SNP	G	TCGA-CD-5803-01A-11D-1600-08		10081483	187940947	5	79483											
SLC6A20	54716	broad.mit.edu	37	chr3	45814049	45814049	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggctccgtggagcgtgaggCccctgatgaggtagatgatg	17	8	0	5			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr3:45814049C>A	uc011bai.1	-	5	765	c.641G>T	c.(640-642)GGC>GTC	p.G214V	SLC6A20_uc003cow.2_5'Flank|SLC6A20_uc011baj.1_Intron	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	solute carrier family 6, member 20 isoform 1	214	Helical; Name=5; (Potential).				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GAGCGTGAGGCCCCTGATGAG	0.607													A	45814049	C	A	45814049	3	1	138	1	0	0	0	0	1	0	0	0	14684	739	26	5	1165	5	SLC6A20	3	45814049	Missense_Mutation	SNP	C	TCGA-CD-5803-01A-11D-1600-08	35732566	45814049	152208381	6	79484											
RASA2	5922	broad.mit.edu	37	chr3	141305519	141305519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagagctcaaggaagaactCggattggaaaaaagaatttt	10	4	1	3			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr3:141305519C>T	uc003etz.1	+	19	1858	c.1858C>T	c.(1858-1860)CGG>TGG	p.R620W	RASA2_uc010huq.1_Missense_Mutation_p.R620W|RASA2_uc003eua.1_Missense_Mutation_p.R620W|RASA2_uc011bnc.1_Missense_Mutation_p.R212W	NM_006506	NP_006497	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	620	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			ovary(2)|lung(2)|breast(1)|skin(1)	6						AGGAAGAACTCGGATTGGAAA	0.348													T	141305519	C	T	141305519	3	4	138	1	0	0	0	0	1	0	0	0	13061	875	31	1	1932	1	RASA2	3	141305519	Missense_Mutation	SNP	C	TCGA-CD-5803-01A-11D-1600-08	95491470	141305519	56716911	7	79485											
OTOL1	131149	broad.mit.edu	37	chr3	161221712	161221712	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgtacccagaggaaacTtctggaatttcaccataaat	6	9	2	1			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr3:161221712T>C	uc011bpb.1	+	4	1416	c.1416T>C	c.(1414-1416)ACT>ACC	p.T472T		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	otolin-1 precursor	472	C1q.					collagen					0						CAGAGGAAACTTCTGGAATTT	0.393													C	161221712	T	C	161221712	2	2	138	1	0	0	0	0	0	0	0	1	11304	1596	56	3		3	OTOL1	3	161221712	Silent	SNP	T	TCGA-CD-5803-01A-11D-1600-08	19916193	161221712	36800718	8	79486											
SPATA18	132671	broad.mit.edu	37	chr4	52945045	52945045	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcttgatctatatgattctCaaagcagtgtcaatgtaagt	7	6	4	2			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr4:52945045C>A	uc003gzl.2	+	8	1443	c.1165C>A	c.(1165-1167)CAA>AAA	p.Q389K	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.Q357K|SPATA18_uc003gzk.1_Missense_Mutation_p.Q389K	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	389					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ATATGATTCTCAAAGCAGTGT	0.383													A	52945045	C	A	52945045	3	1	138	1	0	0	0	0	1	0	0	0	15002	827	29	5	1195	5	SPATA18	4	52945045	Missense_Mutation	SNP	C	TCGA-CD-5803-01A-11D-1600-08		52945045	138209231	9	79487											
PDGFRA	5156	broad.mit.edu	37	chr4	55155048	55155048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccggatggccaagcctgaCcacgctaccagtgaagtgtg	12	12	0	2			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr4:55155048C>T	uc003han.3	+	20	3088	c.2757C>T	c.(2755-2757)GAC>GAT	p.D919D	PDGFRA_uc003haa.2_Silent_p.D679D	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	919	Protein kinase.|Cytoplasmic (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCAAGCCTGACCACGCTACCA	0.562			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			T	55155048	C	T	55155048	2	4	138	1	0	0	0	0	0	0	0	1	11661	506	18	4		4	PDGFRA	4	55155048	Silent	SNP	C	TCGA-CD-5803-01A-11D-1600-08	2210003	55155048	135999228	10	79488											
KIAA1211	57482	broad.mit.edu	37	chr4	57189672	57189672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttcgggagcagcaggcgaCgcgggaggagagaaagcaag	19	7	0	1			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr4:57189672C>T	uc003hbk.2	+	9	3708	c.3317C>T	c.(3316-3318)ACG>ATG	p.T1106M	KIAA1211_uc010iha.2_Missense_Mutation_p.T1099M	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	1106										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					CAGCAGGCGACGCGGGAGGAG	0.507													T	57189672	C	T	57189672	3	4	138	1	0	0	0	0	1	0	0	0	8215	536	19	1	3339	1	KIAA1211	4	57189672	Missense_Mutation	SNP	C	TCGA-CD-5803-01A-11D-1600-08	2034624	57189672	133964604	11	79489											
AGXT2	64902	broad.mit.edu	37	chr5	35033593	35033593	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacctgtcccaccagggagtTccatcttgtaggtccctacg	9	14	1	0			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr5:35033593T>C	uc003jjf.2	-	6	726	c.647A>G	c.(646-648)GAA>GGA	p.E216G	AGXT2_uc011com.1_Missense_Mutation_p.E216G|AGXT2_uc011con.1_Missense_Mutation_p.E124G	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	alanine-glyoxylate aminotransferase 2 precursor	216					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(3)|skin(1)	4	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	ACCAGGGAGTTCCATCTTGTA	0.473													C	35033593	T	C	35033593	3	2	138	1	0	0	0	0	1	0	0	0	405	1783	62	3	933	3	AGXT2	5	35033593	Missense_Mutation	SNP	T	TCGA-CD-5803-01A-11D-1600-08		35033593	145881667	12	79490											
WNT8A	7478	broad.mit.edu	37	chr5	137426675	137426675	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtgctgtacggtcaaGtgtgaccagtgtaggcatgt	15	7	1	1			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr5:137426675G>A	uc003lcd.1	+	6	974	c.969G>A	c.(967-969)AAG>AAA	p.K323K	BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Silent_p.K341K|WNT8A_uc011cyk.1_Silent_p.K341K	NM_058244	NP_490645	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family,	323					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			ovary(1)|lung(1)|breast(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTACGGTCAAGTGTGACCAGT	0.562													A	137426675	G	A	137426675	2	1	138	1	0	0	0	0	0	0	0	1	17393	1020	36	4		4	WNT8A	5	137426675	Silent	SNP	G	TCGA-CD-5803-01A-11D-1600-08	102393082	137426675	43488585	13	79491											
KDM3B	51780	broad.mit.edu	37	chr5	137734048	137734048	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tctgccagctcgtaatgtctGagaaggaggccatgatgatg	13	8	2	3			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr5:137734048G>C	uc003lcy.1	+	10	3213	c.3013G>C	c.(3013-3015)GAG>CAG	p.E1005Q	KDM3B_uc010jew.1_Missense_Mutation_p.E661Q|KDM3B_uc011cys.1_Missense_Mutation_p.E37Q	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	1005					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						CGTAATGTCTGAGAAGGAGGC	0.473													C	137734048	G	C	137734048	3	2	138	1	0	0	0	0	1	0	0	0	8127	1291	45	5	3051	5	KDM3B	5	137734048	Missense_Mutation	SNP	G	TCGA-CD-5803-01A-11D-1600-08	307373	137734048	43181212	14	79492											
PCDHA8	56140	broad.mit.edu	37	chr5	140222519	140222519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagttccaggtgagcgcgcGcgacgcgggcgtgccgcctc	17	15	0	1			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr5:140222519G>A	uc003lhs.2	+	1	1613	c.1613G>A	c.(1612-1614)CGC>CAC	p.R538H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.R538H	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	538	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCGCGCGCGACGCGGGC	0.667													A	140222519	G	A	140222519	3	1	138	1	0	0	0	0	1	0	0	0	11530	1087	38	1	1615	1	PCDHA8	5	140222519	Missense_Mutation	SNP	G	TCGA-CD-5803-01A-11D-1600-08	2488471	140222519	40692741	15	79493											
CNR1	1268	broad.mit.edu	37	chr6	88854334	88854334	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcctcttataggccaggggCctgtgaatggatatgtacct	11	9	1	1			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr6:88854334C>A	uc011dzq.1	-	2	4223	c.660G>T	c.(658-660)AGG>AGT	p.R220S	CNR1_uc010kbz.2_Missense_Mutation_p.R220S|CNR1_uc011dzr.1_Missense_Mutation_p.R220S|CNR1_uc011dzs.1_Missense_Mutation_p.R220S|CNR1_uc003pmq.3_Missense_Mutation_p.R220S|CNR1_uc011dzt.1_Missense_Mutation_p.R220S|CNR1_uc010kca.2_Missense_Mutation_p.R187S	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	220	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AGGCCAGGGGCCTGTGAATGG	0.582													A	88854334	C	A	88854334	3	1	138	1	0	0	0	0	1	0	0	0	3631	738	26	5	762	5	CNR1	6	88854334	Missense_Mutation	SNP	C	TCGA-CD-5803-01A-11D-1600-08		88854334	82260733	16	79494											
KRIT1	889	broad.mit.edu	37	chr7	91864228	91864228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtatggatttattaccaCtttatctacctagaaaggga	7	6	1	1			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr7:91864228C>T	uc003ulq.1	-	7	910	c.739G>A	c.(739-741)GTG>ATG	p.V247M	KRIT1_uc010lev.1_Missense_Mutation_p.V40M|KRIT1_uc003ulr.1_Missense_Mutation_p.V247M|KRIT1_uc003uls.1_Missense_Mutation_p.V247M|KRIT1_uc003ult.1_Missense_Mutation_p.V247M|KRIT1_uc003ulu.1_Missense_Mutation_p.V247M|KRIT1_uc003ulv.1_Missense_Mutation_p.V247M	NM_194456	NP_919438	O00522	KRIT1_HUMAN	krev interaction trapped 1 isoform 1	247					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			ovary(2)|lung(1)	3	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTATTACCACTTTATCTACC	0.308									Familial_Cerebral_Cavernous_Angioma				T	91864228	C	T	91864228	3	4	138	1	0	0	0	0	1	0	0	0	8445	565	20	4	1515	4	KRIT1	7	91864228	Missense_Mutation	SNP	C	TCGA-CD-5803-01A-11D-1600-08		91864228	67274435	17	79495											
ORAI2	80228	broad.mit.edu	37	chr7	102079422	102079422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgagtgctgagcttaacGtgcctatcgacccctctgct	9	14	1	2			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr7:102079422G>A	uc010lhz.1	+	3	254	c.19G>A	c.(19-21)GTG>ATG	p.V7M	ORAI2_uc003uzj.2_Missense_Mutation_p.V7M|ORAI2_uc003uzk.2_Missense_Mutation_p.V7M|ORAI2_uc011kks.1_Intron	NM_001126340	NP_001119812	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator	7						integral to membrane	protein binding			ovary(1)|kidney(1)	2						TGAGCTTAACGTGCCTATCGA	0.607													A	102079422	G	A	102079422	3	1	138	1	0	0	0	0	1	0	0	0	11258	1145	40	1	21	1	ORAI2	7	102079422	Missense_Mutation	SNP	G	TCGA-CD-5803-01A-11D-1600-08	10215194	102079422	57059241	18	79496											
JHDM1D	80853	broad.mit.edu	37	chr7	139829297	139829297	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaataaagttcgtacctacAtaacgttccacatccatcac	4	12	1	0			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr7:139829297A>G	uc003vvm.2	-	4	559	c.555T>C	c.(553-555)TAT>TAC	p.Y185Y		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	185					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)					TCGTACCTACATAACGTTCCA	0.348													G	139829297	A	G	139829297	2	3	138	1	0	0	0	0	0	0	0	1	7948	224	8	3		3	JHDM1D	7	139829297	Silent	SNP	A	TCGA-CD-5803-01A-11D-1600-08	37749875	139829297	19309366	19	79497											
ATAD2	29028	broad.mit.edu	37	chr8	124357296	124357296	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tacttggtgctgttctcttaGcttcacgaatcacctagtag	8	10	3	0			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr8:124357296G>C	uc003yqh.3	-	19	2654	c.2546C>G	c.(2545-2547)GCT>GGT	p.A849G	ATAD2_uc011lii.1_Missense_Mutation_p.A640G|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.A849G	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	849					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGTTCTCTTAGCTTCACGAAT	0.388													C	124357296	G	C	124357296	3	2	138	1	0	0	0	0	1	0	0	0	1071	971	34	5	1666	5	ATAD2	8	124357296	Missense_Mutation	SNP	G	TCGA-CD-5803-01A-11D-1600-08		124357296	22006726	20	79498											
TG	7038	broad.mit.edu	37	chr8	133906122	133906122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccccgggaggctttcgcGgagcagtttctgcgtgggag	17	12	1	0			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr8:133906122G>A	uc003ytw.2	+	11	2990	c.2949G>A	c.(2947-2949)GCG>GCA	p.A983A		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	983	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGCTTTCGCGGAGCAGTTTC	0.602													A	133906122	G	A	133906122	2	1	138	1	0	0	0	0	0	0	0	1	15810	1103	39	1		1	TG	8	133906122	Silent	SNP	G	TCGA-CD-5803-01A-11D-1600-08	9548826	133906122	12457900	21	79499											
ADARB2	105	broad.mit.edu	37	chr10	1230815	1230815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctaccctgccatacagccGcgcccaccgtgcagacagca	8	19	0	1			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr10:1230815G>A	uc009xhq.2	-	9	2403	c.2029C>T	c.(2029-2031)CGG>TGG	p.R677W	ADARB2_uc009xhp.2_Missense_Mutation_p.R61W|ADARB2_uc001igl.3_Missense_Mutation_p.R39W|ADARB2_uc001igm.3_Missense_Mutation_p.R186W	NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	677	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCATACAGCCGCGCCCACCGT	0.662													A	1230815	G	A	1230815	3	1	138	1	0	0	0	0	1	0	0	0	283	1086	38	1	198	1	ADARB2	10	1230815	Missense_Mutation	SNP	G	TCGA-CD-5803-01A-11D-1600-08		1230815	134303932	22	79500											
OR56B4	196335	broad.mit.edu	37	chr11	6129249	6129249	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggtggacattggcctggccAccaccatcatgcccaagatc	10	14	1	1			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr11:6129249A>T	uc010qzx.1	+	1	241	c.241A>T	c.(241-243)ACC>TCC	p.T81S		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B,	81	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCCTGGCCACCACCATCAT	0.493													T	6129249	A	T	6129249	3	4	138	1	0	0	0	0	1	0	0	0	11138	159	6	5	243	5	OR56B4	11	6129249	Missense_Mutation	SNP	A	TCGA-CD-5803-01A-11D-1600-08		6129249	128877267	23	79501											
NLRP14	338323	broad.mit.edu	37	chr11	7064427	7064427	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagaagggtggtgatgtcacAttgacctgccaaacaaccac	11	10	1	3			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr11:7064427A>T	uc001mfb.1	+	4	1493	c.1170A>T	c.(1168-1170)ACA>ACT	p.T390T		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	390	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTGATGTCACATTGACCTGCC	0.498													T	7064427	A	T	7064427	2	4	138	1	0	0	0	0	0	0	0	1	10476	204	8	5		5	NLRP14	11	7064427	Silent	SNP	A	TCGA-CD-5803-01A-11D-1600-08	935178	7064427	127942089	24	79502											
KBTBD4	55709	broad.mit.edu	37	chr11	47595060	47595060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatatggcatctttcccggGcacagacaccagggtgtgct	11	11	1	1			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr11:47595060G>A	uc001nfx.2	-	4	1150	c.979C>T	c.(979-981)CCC>TCC	p.P327S	NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Missense_Mutation_p.P352S|KBTBD4_uc001nfz.2_Missense_Mutation_p.P343S|KBTBD4_uc001nfy.2_Missense_Mutation_p.P327S	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	327	Kelch 2.									ovary(1)|central_nervous_system(1)	2						TCTTTCCCGGGCACAGACACC	0.547													A	47595060	G	A	47595060	3	1	138	1	0	0	0	0	1	0	0	0	7995	1203	42	2	581	2	KBTBD4	11	47595060	Missense_Mutation	SNP	G	TCGA-CD-5803-01A-11D-1600-08	40530633	47595060	87411456	25	79503											
SLC22A8	9376	broad.mit.edu	37	chr11	62763206	62763206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagacagaaggtcatgcggCgcagcatgggtatccggaac	14	9	1	2			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr11:62763206C>T	uc001nwo.2	-	7	1107	c.971G>A	c.(970-972)CGC>CAC	p.R324H	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_Missense_Mutation_p.R324H|SLC22A8_uc009yom.2_Missense_Mutation_p.R201H|SLC22A8_uc010rmm.1_Missense_Mutation_p.R233H|SLC22A8_uc009yon.2_Missense_Mutation_p.R324H	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN	solute carrier family 22 member 8	324	Cytoplasmic (Potential).				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			skin(2)|ovary(1)	3						GGTCATGCGGCGCAGCATGGG	0.592													T	62763206	C	T	62763206	3	4	138	1	0	0	0	0	1	0	0	0	14460	768	27	1	677	1	SLC22A8	11	62763206	Missense_Mutation	SNP	C	TCGA-CD-5803-01A-11D-1600-08	15168146	62763206	72243310	26	79504											
PYROXD1	79912	broad.mit.edu	37	chr12	21593302	21593302	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctctttttaaaaataagTtggctactcactttccatcg	4	10	3	0			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr12:21593302T>G	uc001rew.2	+	2	212	c.85T>G	c.(85-87)TTG>GTG	p.L29V	PYROXD1_uc009ziq.2_5'UTR|PYROXD1_uc009zir.2_Intron	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase	29							oxidoreductase activity			ovary(1)	1						TAAAAATAAGTTGGCTACTCA	0.299													G	21593302	T	G	21593302	3	3	138	1	0	0	0	0	1	0	0	0	12866	1739	60	5	91	5	PYROXD1	12	21593302	Missense_Mutation	SNP	T	TCGA-CD-5803-01A-11D-1600-08		21593302	112258593	27	79505											
AVIL	10677	broad.mit.edu	37	chr12	58193602	58193602	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttttggcagggtttacatcCtcaggcagctcctgattctg	10	10	2	1			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr12:58193602C>G	uc001sqj.1	-	18	2351	c.2322G>C	c.(2320-2322)GAG>GAC	p.E774D	AVIL_uc009zqe.1_Missense_Mutation_p.E767D	NM_006576	NP_006567	O75366	AVIL_HUMAN	advillin	774	Headpiece (By similarity).|HP.				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			central_nervous_system(1)	1	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GGTTTACATCCTCAGGCAGCT	0.443													G	58193602	C	G	58193602	3	3	138	1	0	0	0	0	1	0	0	0	1227	680	24	5	145	5	AVIL	12	58193602	Missense_Mutation	SNP	C	TCGA-CD-5803-01A-11D-1600-08	36600300	58193602	75658293	28	79506											
NOS1	4842	broad.mit.edu	37	chr12	117768788	117768788	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acccgctccttcaccagaaaTcccaggcccccaactttgcg	6	19	1	1			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr12:117768788T>A	uc001twm.1	-	2	773	c.87A>T	c.(85-87)GGA>GGT	p.G29G		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	29	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCACCAGAAATCCCAGGCCCC	0.562													A	117768788	T	A	117768788	2	1	138	1	0	0	0	0	0	0	0	1	10541	1422	50	5		5	NOS1	12	117768788	Silent	SNP	T	TCGA-CD-5803-01A-11D-1600-08	59575186	117768788	16083107	29	79507											
CABP1	9478	broad.mit.edu	37	chr12	121098064	121098064	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatcaactgccgggatctgGgcaactgcatgcgcaccatg	11	13	2	0			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr12:121098064G>T	uc001tyu.2	+	3	818	c.751G>T	c.(751-753)GGC>TGC	p.G251C	CABP1_uc001tyv.2_Missense_Mutation_p.G108C|CABP1_uc001tyw.2_Missense_Mutation_p.G48C|CABP1_uc001tyx.2_Missense_Mutation_p.G93C	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN	calcium binding protein 1 isoform 3	251	EF-hand 1.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCGGGATCTGGGCAACTGCAT	0.567													T	121098064	G	T	121098064	3	4	138	1	0	0	0	0	1	0	0	0	2531	1232	43	5	994	5	CABP1	12	121098064	Missense_Mutation	SNP	G	TCGA-CD-5803-01A-11D-1600-08	3329276	121098064	12753831	30	79508											
ERCC5	2073	broad.mit.edu	37	chr13	103515071	103515071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggaagggaactgacaccGgcatctccaacttgtacaaa	9	10	1	1			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr13:103515071G>A	uc001vpw.2	+	8	2015	c.1572G>A	c.(1570-1572)CCG>CCA	p.P524P	ERCC5_uc001vpu.1_Silent_p.P978P|ERCC5_uc010tjb.1_Silent_p.P524P|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Silent_p.P356P	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	524					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AACTGACACCGGCATCTCCAA	0.463			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				A	103515071	G	A	103515071	2	1	138	1	0	0	0	0	0	0	0	1	5216	1103	39	1		1	ERCC5	13	103515071	Silent	SNP	G	TCGA-CD-5803-01A-11D-1600-08		103515071	11654807	31	79509											
SPG11	80208	broad.mit.edu	37	chr15	44867122	44867122	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcaagatcatacagacagAggacctgtcgacagtagttc	11	9	1	3			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr15:44867122A>G	uc001ztx.2	-	31	6015	c.5984T>C	c.(5983-5985)CTC>CCC	p.L1995P	SPG11_uc010bdw.2_Intron|SPG11_uc010ueh.1_Intron|SPG11_uc010uei.1_Missense_Mutation_p.L1995P|SPG11_uc001zty.1_Missense_Mutation_p.L724P	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	1995	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ATACAGACAGAGGACCTGTCG	0.488													G	44867122	A	G	44867122	3	3	138	1	0	0	0	0	1	0	0	0	15040	304	11	3	1387	3	SPG11	15	44867122	Missense_Mutation	SNP	A	TCGA-CD-5803-01A-11D-1600-08		44867122	57664270	32	79510											
MYEF2	50804	broad.mit.edu	37	chr15	48460981	48460981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctattggccttcttacttcCtgtagatttttcctttaagt	5	9	2	1			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr15:48460981C>T	uc001zwi.3	-	2	341	c.217G>A	c.(217-219)GGA>AGA	p.G73R	MYEF2_uc001zwj.3_Missense_Mutation_p.G73R|MYEF2_uc001zwl.2_5'UTR	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	73					transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TTCTTACTTCCTGTAGATTTT	0.363													T	48460981	C	T	48460981	3	4	138	1	0	0	0	0	1	0	0	0	10024	690	24	4	1649	4	MYEF2	15	48460981	Missense_Mutation	SNP	C	TCGA-CD-5803-01A-11D-1600-08	3593859	48460981	54070411	33	79511											
CHRNA3	1136	broad.mit.edu	37	chr15	78909415	78909416	+	Missense_Mutation	DNP	GC	GC	CT													gatcttctgtgcagggacacGcatgaactctgccccaccat							TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr15:78909415_78909416GC>CT	uc002bec.2	-	4	513_514	c.327_328GC>AG	c.(325-330)ATGCGT>ATAGGT	p.109_110MR>IG	CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.109_110MR>IG	NM_000743	NP_000734	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3	109_110	Extracellular (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|ovary(1)	4						GCAGGGACACGCATGAACTCTG	0.559													CT	78909416	GC	CT	78909415	3	2	138	1	0	0	0	0	1	0	0	0	3384	1087	38	5	1286	5	CHRNA3	15	78909415	Missense_Mutation	DNP	GC	TCGA-CD-5803-01A-11D-1600-08	30448434	78909415	23621977	34	79512											
SCNN1G	6340	broad.mit.edu	37	chr16	23197794	23197794	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgactgccgtggccctcatcCtctggcagtgcgccctcctc	10	18	2	1			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr16:23197794C>G	uc002dlm.1	+	2	341	c.202C>G	c.(202-204)CTC>GTC	p.L68V		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma	68	Helical; (By similarity).				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GGCCCTCATCCTCTGGCAGTG	0.592													G	23197794	C	G	23197794	3	3	138	1	0	0	0	0	1	0	0	0	13930	681	24	5	204	5	SCNN1G	16	23197794	Missense_Mutation	SNP	C	TCGA-CD-5803-01A-11D-1600-08		23197794	67156959	35	79513											
DSC2	1824	broad.mit.edu	37	chr18	28671077	28671077	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttctcttggcgcgccttaGaactttttctttagtatgtc	7	10	3	1			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr18:28671077G>A	uc002kwl.3	-	4	842	c.388C>T	c.(388-390)CTA>TTA	p.L130L	DSC2_uc002kwk.3_Silent_p.L130L	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	130					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GCGCGCCTTAGAACTTTTTCT	0.363													A	28671077	G	A	28671077	2	1	138	1	0	0	0	0	0	0	0	1	4766	933	33	4		4	DSC2	18	28671077	Silent	SNP	G	TCGA-CD-5803-01A-11D-1600-08		28671077	49406171	36	79514											
SMAD4	4089	broad.mit.edu	37	chr18	48591920	48591949	+	In_Frame_Del	DEL	CTTTTGTTTGGGTCAACTCTCCAATGTCCA	CTTTTGTTTGGGTCAACTCTCCAATGTCCA	-													gacccttctggaggagatcgCttttgtttgggtcaactctc					rs139569694	byFrequency	TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr18:48591919_48591948GCTTTTGTTTGGGTCAACTCTCCAATGTCCA>G	uc010xdp.2	+	8	1620_1649	c.1082_1111GCTTTTGTTTGGGTCAACTCTCCAATGTCCA>G	c.(1081-1113)cgcttttgtttgggtcaactctccaatgtccac>cGac	p.FCLGQLSNVH362del	SMAD4_uc002lfb.4_In_Frame_Del_p.FCLGQLSNVH207del	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	362	MH2.				BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.R361H(24)|p.R361C(7)|p.Q366*(6)|p.F362fs*2(2)|p.N369D(2)|p.?(2)|p.R361S(2)|p.C363R(2)|p.C363S(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGAGGAGATCGCTTTTGTTTGGGTCAACTCTCCAATGTCCACAGGACAGA	0.396													-	48591949	CTTTTGTTTGGGTCAACTCTCCAATGTCCA	-	48591920	7	5	138	1	0	1	0	1	0	0	0	0	14760	784	28	0	1113	0	SMAD4	18	48591920	In_Frame_Del	DEL	CTTTTGTTTGGGTCAACTCTCCAATGTCCA	TCGA-CD-5803-01A-11D-1600-08	19920843	48591920	29485328	37	79515											
TMPRSS9	360200	broad.mit.edu	37	chr19	2389803	2389803	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggagcccactgtggctgAcgtacacctcgtgcccagga	12	14	0	1			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr19:2389803A>G	uc010xgx.1	+	1	20	c.20A>G	c.(19-21)GAC>GGC	p.D7G	TMPRSS9_uc002lvv.1_Missense_Mutation_p.D7G	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	7	Cytoplasmic (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGTGGCTGACGTACACCTC	0.622													G	2389803	A	G	2389803	3	3	138	1	0	0	0	0	1	0	0	0	16250	275	10	3	22	3	TMPRSS9	19	2389803	Missense_Mutation	SNP	A	TCGA-CD-5803-01A-11D-1600-08		2389803	56739180	38	79516											
PTPRS	5802	broad.mit.edu	37	chr19	5258067	5258067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgaggagtagcgcacgcCggcgctgttggtggccacac	17	11	0	1			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr19:5258067C>T	uc002mbv.2	-	8	901	c.667G>A	c.(667-669)GGC>AGC	p.G223S	PTPRS_uc002mbu.1_Missense_Mutation_p.G214S|PTPRS_uc010xin.1_Missense_Mutation_p.G214S|PTPRS_uc002mbw.2_Missense_Mutation_p.G214S|PTPRS_uc002mbx.2_Missense_Mutation_p.G214S|PTPRS_uc002mby.2_Missense_Mutation_p.G214S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	223	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TAGCGCACGCCGGCGCTGTTG	0.617													T	5258067	C	T	5258067	3	4	138	1	0	0	0	0	1	0	0	0	12811	652	23	1	5303	1	PTPRS	19	5258067	Missense_Mutation	SNP	C	TCGA-CD-5803-01A-11D-1600-08	2868264	5258067	53870916	39	79517											
SLC5A5	6528	broad.mit.edu	37	chr19	18001723	18001723	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcgcagcaccctggccccGggattgttgtggtgggacct	15	12	0	0	rs149937279		TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr19:18001723G>A	uc002nhr.3	+	14	2027	c.1680G>A	c.(1678-1680)CCG>CCA	p.P560P		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium iodide	560	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4						CCCTGGCCCCGGGATTGTTGT	0.602													A	18001723	G	A	18001723	2	1	138	1	0	0	0	0	0	0	0	1	14668	1103	39	1		1	SLC5A5	19	18001723	Silent	SNP	G	TCGA-CD-5803-01A-11D-1600-08	12743656	18001723	41127260	40	79518											
ZNF461	92283	broad.mit.edu	37	chr19	37130636	37130636	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtgactaaaaaataaaTggtaactgaagatttttcta	8	3	1	3			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr19:37130636T>A	uc002oem.2	-	6	839	c.611A>T	c.(610-612)CAT>CTT	p.H204L	ZNF461_uc002oen.2_Missense_Mutation_p.H173L|ZNF461_uc010xtj.1_Missense_Mutation_p.H181L	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	gonadotropin inducible transcription repressor	204	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAAAAATAAATGGTAACTGAA	0.299													A	37130636	T	A	37130636	3	1	138	1	0	0	0	0	1	0	0	0	17922	1464	51	5	1084	5	ZNF461	19	37130636	Missense_Mutation	SNP	T	TCGA-CD-5803-01A-11D-1600-08	19128913	37130636	21998347	41	79519											
CCDC114	93233	broad.mit.edu	37	chr19	48806042	48806042	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accttgtccatgcgctgctgCaacaccttctgctgctgctc	8	16	1	0			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr19:48806042C>A	uc002pir.2	-	10	1721	c.1038G>T	c.(1036-1038)TTG>TTT	p.L346F	CCDC114_uc002piq.2_Missense_Mutation_p.L155F|CCDC114_uc002pio.2_Missense_Mutation_p.L383F|CCDC114_uc002pis.1_Missense_Mutation_p.L26F|CCDC114_uc002pit.1_Missense_Mutation_p.L383F	NM_144577	NP_653178	Q96M63	CC114_HUMAN	coiled-coil domain containing 114 isoform 2	346	Potential.									ovary(1)	1		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TGCGCTGCTGCAACACCTTCT	0.617													A	48806042	C	A	48806042	3	1	138	1	0	0	0	0	1	0	0	0	2751	709	25	5	994	5	CCDC114	19	48806042	Missense_Mutation	SNP	C	TCGA-CD-5803-01A-11D-1600-08	11675406	48806042	10322941	42	79520											
ZNF132	7691	broad.mit.edu	37	chr19	58946280	58946280	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagagctcttcataagtgcGtccctgtccttgtaccatct	7	12	3	1	rs150467107	byFrequency	TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr19:58946280G>A	uc002qst.3	-	3	932	c.531C>T	c.(529-531)GAC>GAT	p.D177D		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	177						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TCATAAGTGCGTCCCTGTCCT	0.537													A	58946280	G	A	58946280	2	1	138	1	0	0	0	0	0	0	0	1	17719	1136	40	1		1	ZNF132	19	58946280	Silent	SNP	G	TCGA-CD-5803-01A-11D-1600-08	10140238	58946280	182703	43	79521											
TLR8	51311	broad.mit.edu	37	chrX	12939190	12939190	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataaatgataatatgttaaaGttttttaactggacattact	5	3	0	1			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chrX:12939190G>T	uc004cve.2	+	2	2099	c.2031G>T	c.(2029-2031)AAG>AAT	p.K677N	TLR8_uc004cvd.2_Missense_Mutation_p.K695N	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	677	Extracellular (Potential).|LRR 20.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						ATATGTTAAAGTTTTTTAACT	0.368													T	12939190	G	T	12939190	3	4	138	1	0	0	0	0	1	0	0	0	15954	1020	36	5	2037	5	TLR8	23	12939190	Missense_Mutation	SNP	G	TCGA-CD-5803-01A-11D-1600-08		12939190	142331370	44	79522											
COL4A5	1287	broad.mit.edu	37	chrX	107802349	107802349	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggattgcctggatttccagGtccagaagggcctccggggc	15	11	0	1			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chrX:107802349G>T	uc004enz.1	+	3	399	c.197G>T	c.(196-198)GGT>GTT	p.G66V	COL4A5_uc011mso.1_Missense_Mutation_p.G66V	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	66	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						GGATTTCCAGGTCCAGAAGGG	0.468									Alport_syndrome_with_Diffuse_Leiomyomatosis				T	107802349	G	T	107802349	3	4	138	1	0	0	0	0	1	0	0	0	3694	1261	44	5	207	5	COL4A5	23	107802349	Missense_Mutation	SNP	G	TCGA-CD-5803-01A-11D-1600-08	94863159	107802349	47468211	45	79523											
AGRN	375790	broad.mit.edu	37	chr1	970694	970711	+	Splice_Site	DEL	GCCTCCTGATGGTGAGTA	GCCTCCTGATGGTGAGTA	-													ttcactccagtgcctccgacGcctcctgatggtgagtaggg							TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr1:970693_970710CGCCTCCTGATGGTGAGTA>C	uc001ack.2	+	3	561	c.511_splice	c.e3+1	p.A171_splice		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	171					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GTGCCTCCGACGCCTCCTGATGGTGAGTAGGGCTGAGT	0.587													-	970711	GCCTCCTGATGGTGAGTA	-	970694	8	5	139	1	0	1	0	1	0	0	1	0	397	1074	38	0	511	0	AGRN	1	970694	Splice_Site	DEL	GCCTCCTGATGGTGAGTA	TCGA-CD-5804-01A-12D-2053-08		970694	248279927	1	79524											
KAZ	23254	broad.mit.edu	37	chr1	15386799	15386799	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacacactccctctgcaacGtaaggccagcagcagcgggg	13	14	1	0			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr1:15386799G>A	uc001avm.3	+	6	1328	c.1047_splice	c.e6+1	p.N349_splice	KAZ_uc009vog.1_Splice_Site_p.N349_splice|KAZ_uc010obj.1_Splice_Site_p.N349_splice|KAZ_uc001avo.2_Splice_Site_p.N343_splice|KAZ_uc001avp.2_Splice_Site_p.N255_splice|KAZ_uc001avq.2_Splice_Site_p.N255_splice|KAZ_uc001avr.2_Intron	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E						keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0						CCTCTGCAACGTAAGGCCAGC	0.677													A	15386799	G	A	15386799	5	1	139	1	0	0	0	0	0	0	1	0	7988	1159	40	1	1282	1	KAZ	1	15386799	Splice_Site	SNP	G	TCGA-CD-5804-01A-12D-2053-08	14416105	15386799	233863822	2	79525											
ZYG11B	79699	broad.mit.edu	37	chr1	53262458	53262458	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagctcttcattgtcagggTaagtctataatctcctccat	7	10	5	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr1:53262458T>C	uc001cuj.2	+	8	1680	c.1485_splice	c.e8+2	p.R495_splice	ZYG11B_uc009vzg.2_Splice_Site|ZYG11B_uc010onj.1_Splice_Site_p.R486_splice|ZYG11B_uc009vzh.2_Splice_Site	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B								protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						ATTGTCAGGGTAAGTCTATAA	0.323													C	53262458	T	C	53262458	5	2	139	1	0	0	0	0	0	0	1	0	18250	1652	57	3	1517	3	ZYG11B	1	53262458	Splice_Site	SNP	T	TCGA-CD-5804-01A-12D-2053-08	37875659	53262458	195988163	3	79526											
KIAA0907	22889	broad.mit.edu	37	chr1	155903624	155903624	+	Frame_Shift_Del	DEL	C	C	-													tggggctggagctggttggtCccatttgctgcggcgcctac							TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr1:155903624delC	uc001fmi.1	-	2	79	c.55delG	c.(55-57)GACfs	p.D19fs	KIAA0907_uc001fmj.1_Frame_Shift_Del_p.D19fs|KIAA0907_uc009wrk.1_Frame_Shift_Del_p.D19fs|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Frame_Shift_Del_p.D19fs|KIAA0907_uc001fmm.2_Frame_Shift_Del_p.D19fs|KIAA0907_uc001fmo.2_Frame_Shift_Del_p.D19fs	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	19											0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GCTGGTTGGTCCCATTTGCTG	0.572													-	155903624	C	-	155903624	7	5	139	1	0	1	0	1	0	0	0	0	8199	855	30	0	1841	0	KIAA0907	1	155903624	Frame_Shift_Del	DEL	C	TCGA-CD-5804-01A-12D-2053-08	102641166	155903624	93346997	4	79527											
MNDA	4332	broad.mit.edu	37	chr1	158813155	158813155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcggcacctgcacccaccGcaagaaacaaactgacatcg	8	15	0	2			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr1:158813155G>A	uc001fsz.1	+	3	552	c.352G>A	c.(352-354)GCA>ACA	p.A118T		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	118					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					TGCACCCACCGCAAGAAACAA	0.443													A	158813155	G	A	158813155	3	1	139	1	0	0	0	0	1	0	0	0	9676	1087	38	1	358	1	MNDA	1	158813155	Missense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08	2909531	158813155	90437466	5	79528											
GPR161	23432	broad.mit.edu	37	chr1	168066199	168066199	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccttgcgtgccttgacccTggccacgcggaagatgaagc	12	14	0	3			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr1:168066199T>C	uc001gfc.2	-	5	960	c.646A>G	c.(646-648)AGG>GGG	p.R216G	GPR161_uc001gfb.2_Missense_Mutation_p.R84G|GPR161_uc010pll.1_Missense_Mutation_p.R126G|GPR161_uc010plm.1_Missense_Mutation_p.R102G|GPR161_uc009wvo.2_Missense_Mutation_p.R233G|GPR161_uc001gfd.2_Missense_Mutation_p.R216G|GPR161_uc010pln.1_Missense_Mutation_p.R236G|GPR161_uc001gfe.1_Missense_Mutation_p.R216G	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161 isoform 2	216	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_hematologic(923;0.215)					GCCTTGACCCTGGCCACGCGG	0.612													C	168066199	T	C	168066199	3	2	139	1	0	0	0	0	1	0	0	0	6665	1579	55	3	959	3	GPR161	1	168066199	Missense_Mutation	SNP	T	TCGA-CD-5804-01A-12D-2053-08	9253044	168066199	81184422	6	79529											
LAMC1	3915	broad.mit.edu	37	chr1	183094538	183094538	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctgccttagcctgcaAttgcaatctgtatgggacca	8	12	2	0			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr1:183094538A>C	uc001gpy.3	+	15	2911	c.2654A>C	c.(2653-2655)AAT>ACT	p.N885T		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	885	Laminin EGF-like 9.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTAGCCTGCAATTGCAATCTG	0.428													C	183094538	A	C	183094538	3	2	139	1	0	0	0	0	1	0	0	0	8614	101	4	5	2712	5	LAMC1	1	183094538	Missense_Mutation	SNP	A	TCGA-CD-5804-01A-12D-2053-08	15028339	183094538	66156083	7	79530											
MAP4K4	9448	broad.mit.edu	37	chr2	102460728	102460729	+	Frame_Shift_Ins	INS	-	-	T													aactgctggcagagagacagINSaagcggattgagcagcagaa							TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr2:102460728_102460729insT	uc002tbg.2	+	12	1243_1244	c.1188_1189insT	c.(1186-1191)CAGAAGfs	p.Q396fs	MAP4K4_uc002tbc.2_Frame_Shift_Ins_p.Q396fs|MAP4K4_uc002tbd.2_Frame_Shift_Ins_p.Q396fs|MAP4K4_uc002tbe.2_Frame_Shift_Ins_p.Q396fs|MAP4K4_uc002tbf.2_Frame_Shift_Ins_p.Q396fs|MAP4K4_uc010yvy.1_Frame_Shift_Ins_p.Q396fs|MAP4K4_uc002tbh.2_Frame_Shift_Ins_p.Q396fs|MAP4K4_uc002tbi.2_Frame_Shift_Ins_p.Q249fs|MAP4K4_uc010yvz.1_Frame_Shift_Ins_p.Q376fs|MAP4K4_uc002tbk.2_5'UTR|MAP4K4_uc002tbj.1_Frame_Shift_Ins_p.Q292fs	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	396_397					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						CAGAGAGACAGAAGCGGATTGA	0.48													T	102460729	-	T	102460728	7	5	139	1	0	1	1	0	0	0	0	0	9262	933	33	0	1234	0	MAP4K4	2	102460728	Frame_Shift_Ins	INS	-	TCGA-CD-5804-01A-12D-2053-08		102460728	140738645	8	79531											
MAP2	4133	broad.mit.edu	37	chr2	210560612	210560612	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agagtgaggaagaagagataGaagcccagggagaatatgat	15	3	0	7			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr2:210560612G>C	uc002vde.1	+	7	3966	c.3718G>C	c.(3718-3720)GAA>CAA	p.E1240Q	MAP2_uc002vdc.1_Missense_Mutation_p.E1240Q|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.E1236Q	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1240					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGAAGAGATAGAAGCCCAGGG	0.493													C	210560612	G	C	210560612	3	2	139	1	0	0	0	0	1	0	0	0	9235	943	33	5	3732	5	MAP2	2	210560612	Missense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08	108099884	210560612	32638761	9	79532											
IRS1	3667	broad.mit.edu	37	chr2	227662551	227662551	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctctcagtgcgtgatcGgcgggtcagccccacctggc	14	14	2	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr2:227662551G>A	uc002voh.3	-	1	956	c.904C>T	c.(904-906)CGA>TGA	p.R302*		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	302	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTGCGTGATCGGCGGGTCAGC	0.682											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	227662551	G	A	227662551	4	1	139	1	0	0	0	0	0	1	0	0	7840	1124	39	1	2828	1	IRS1	2	227662551	Nonsense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08	17101939	227662551	15536822	10	79533											
ANO7	50636	broad.mit.edu	37	chr2	242147068	242147068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctggctgctctccagcGcctgtgccctggcccaggta	11	16	2	0	rs137878201		TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr2:242147068G>A	uc002wax.2	+	11	1325	c.1222G>A	c.(1222-1224)GCC>ACC	p.A408T		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	408	Extracellular (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						GCTCTCCAGCGCCTGTGCCCT	0.622													A	242147068	G	A	242147068	3	1	139	1	0	0	0	0	1	0	0	0	702	1087	38	1	1336	1	ANO7	2	242147068	Missense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08	14484517	242147068	1052305	11	79534											
COL8A1	1295	broad.mit.edu	37	chr3	99513454	99513454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taccaggacctcaaggccttCggggtcctaaaggagacaag	12	11	1	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr3:99513454C>T	uc003dtg.1	+	5	954	c.709C>T	c.(709-711)CGG>TGG	p.R237W	COL8A1_uc003dth.1_Missense_Mutation_p.R237W|COL8A1_uc003dti.1_Missense_Mutation_p.R238W	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	237	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						TCAAGGCCTTCGGGGTCCTAA	0.632													T	99513454	C	T	99513454	3	4	139	1	0	0	0	0	1	0	0	0	3705	875	31	1	715	1	COL8A1	3	99513454	Missense_Mutation	SNP	C	TCGA-CD-5804-01A-12D-2053-08		99513454	98508976	12	79535											
C3orf22	152065	broad.mit.edu	37	chr3	126272213	126272213	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcttactctggtgagacttCttgcaggcactggagtccat	10	10	3	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr3:126272213C>G	uc003ejb.2	-	2	350	c.21G>C	c.(19-21)AAG>AAC	p.K7N		NM_152533	NP_689746	Q8N5N4	CC022_HUMAN	hypothetical protein LOC152065	7											0				GBM - Glioblastoma multiforme(114;0.147)		GGTGAGACTTCTTGCAGGCAC	0.572													G	126272213	C	G	126272213	3	3	139	1	0	0	0	0	1	0	0	0	2215	912	32	5	416	5	C3orf22	3	126272213	Missense_Mutation	SNP	C	TCGA-CD-5804-01A-12D-2053-08	26758759	126272213	71750217	13	79536											
EHHADH	1962	broad.mit.edu	37	chr3	184911202	184911202	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgctagctggtttttgtcCgagtctacagcaatcacagg	11	9	2	0			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr3:184911202C>T	uc003fpf.2	-	7	1011	c.984G>A	c.(982-984)TCG>TCA	p.S328S	EHHADH_uc011brs.1_Silent_p.S232S	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	328	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GGTTTTTGTCCGAGTCTACAG	0.463													T	184911202	C	T	184911202	2	4	139	1	0	0	0	0	0	0	0	1	4982	639	23	1		1	EHHADH	3	184911202	Silent	SNP	C	TCGA-CD-5804-01A-12D-2053-08	58638989	184911202	13111228	14	79537											
CCKAR	886	broad.mit.edu	37	chr4	26483541	26483541	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcggtgtcgtaggcccGccaggcgttggcgctgaaga	19	10	0	2			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr4:26483541G>T	uc003gse.1	-	5	1159	c.1006C>A	c.(1006-1008)CGG>AGG	p.R336R		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	336	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			lung(3)|pancreas(1)	4		Breast(46;0.0503)			Ceruletide(DB00403)	TCGTAGGCCCGCCAGGCGTTG	0.602													T	26483541	G	T	26483541	2	4	139	1	0	0	0	0	0	0	0	1	2880	1086	38	5		5	CCKAR	4	26483541	Silent	SNP	G	TCGA-CD-5804-01A-12D-2053-08		26483541	164670735	15	79538											
LPHN3	23284	broad.mit.edu	37	chr4	62845476	62845476	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctgattgggatcaacCgaactgaccaaccagtaagc	8	12	2	2			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr4:62845476C>T	uc010ihh.2	+	15	2970	c.2797C>T	c.(2797-2799)CGA>TGA	p.R933*	LPHN3_uc003hcq.3_Nonsense_Mutation_p.R933*|LPHN3_uc003hct.2_Nonsense_Mutation_p.R326*	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	920	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						TGGGATCAACCGAACTGACCA	0.443													T	62845476	C	T	62845476	4	4	139	1	0	0	0	0	0	1	0	0	8917	644	23	1	2855	1	LPHN3	4	62845476	Nonsense_Mutation	SNP	C	TCGA-CD-5804-01A-12D-2053-08	36361935	62845476	128308800	16	79539											
AGPAT9	84803	broad.mit.edu	37	chr4	84502749	84502749	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgagtcacccatggaaaaAgggctctctggtctacgagg	13	9	3	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr4:84502749A>G	uc003how.2	+	4	461	c.243A>G	c.(241-243)AAA>AAG	p.K81K	AGPAT9_uc003hox.2_Silent_p.K81K|AGPAT9_uc003hoy.2_Silent_p.K81K	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	81					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			skin(1)	1		Hepatocellular(203;0.114)				CCATGGAAAAAGGGCTCTCTG	0.433													G	84502749	A	G	84502749	2	3	139	1	0	0	0	0	0	0	0	1	392	69	3	3		3	AGPAT9	4	84502749	Silent	SNP	A	TCGA-CD-5804-01A-12D-2053-08	21657273	84502749	106651527	17	79540											
DNAH5	1767	broad.mit.edu	37	chr5	13753603	13753603	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaacagaagatcacgaaaCtcttggttaaatggaccaga	8	7	2	3			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr5:13753603C>A	uc003jfd.2	-	63	10653	c.10611G>T	c.(10609-10611)GAG>GAT	p.E3537D	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3537					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)					GATCACGAAACTCTTGGTTAA	0.383									Kartagener_syndrome				A	13753603	C	A	13753603	3	1	139	1	0	0	0	0	1	0	0	0	4604	564	20	5	3331	5	DNAH5	5	13753603	Missense_Mutation	SNP	C	TCGA-CD-5804-01A-12D-2053-08		13753603	167161657	18	79541											
DNAH5	1767	broad.mit.edu	37	chr5	13844951	13844951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagaattaggcgaaccttttCgtggaacttgacagatttaa	9	6	0	3	rs116524991	byFrequency	TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr5:13844951C>T	uc003jfd.2	-	32	5308	c.5266G>A	c.(5266-5268)GAA>AAA	p.E1756K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1756	Stem (By similarity).				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)					CGAACCTTTTCGTGGAACTTG	0.463									Kartagener_syndrome				T	13844951	C	T	13844951	3	4	139	1	0	0	0	0	1	0	0	0	4604	893	31	1	8800	1	DNAH5	5	13844951	Missense_Mutation	SNP	C	TCGA-CD-5804-01A-12D-2053-08	91348	13844951	167070309	19	79542											
CDH10	1008	broad.mit.edu	37	chr5	24509821	24509821	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctatagagattttcacTatggtagtatctttaaatgg	7	5	4	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr5:24509821T>C	uc003jgr.1	-	7	1442	c.1110A>G	c.(1108-1110)ATA>ATG	p.I370M	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	370	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		AGATTTTCACTATGGTAGTAT	0.383										HNSCC(23;0.051)			C	24509821	T	C	24509821	3	2	139	1	0	0	0	0	1	0	0	0	3096	1512	53	3	1280	3	CDH10	5	24509821	Missense_Mutation	SNP	T	TCGA-CD-5804-01A-12D-2053-08	10664870	24509821	156405439	20	79543											
C5orf20	140947	broad.mit.edu	37	chr5	134782298	134782298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaagaaaaatgaagtctcGgatgggcagagcttaactgc	11	8	2	3			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr5:134782298G>A	uc003lav.2	-	1	741	c.501C>T	c.(499-501)TCC>TCT	p.S167S		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	dendritic cell nuclear protein 1	167	Ser-rich.					nucleus					0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGAAGTCTCGGATGGGCAGA	0.473													A	134782298	G	A	134782298	2	1	139	1	0	0	0	0	0	0	0	1	2284	1103	39	1		1	C5orf20	5	134782298	Silent	SNP	G	TCGA-CD-5804-01A-12D-2053-08	110272477	134782298	46132962	21	79544											
PCDHA6	56142	broad.mit.edu	37	chr5	140207815	140207815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacacggcaccttcgtgggcCggatcgcgcaggacctgggg	16	13	0	0			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr5:140207815C>T	uc003lho.2	+	1	166	c.139C>T	c.(139-141)CGG>TGG	p.R47W	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.R47W|PCDHA6_uc011dab.1_Missense_Mutation_p.R47W	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	47	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGTGGGCCGGATCGCGCA	0.662													T	140207815	C	T	140207815	3	4	139	1	0	0	0	0	1	0	0	0	11528	643	23	1	141	1	PCDHA6	5	140207815	Missense_Mutation	SNP	C	TCGA-CD-5804-01A-12D-2053-08	5425517	140207815	40707445	22	79545											
PCDHB10	56126	broad.mit.edu	37	chr5	140573466	140573466	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctccgacgtcaatgacaaCgcccccgccttcacccaaac	6	19	3	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr5:140573466C>T	uc003lix.2	+	1	1515	c.1341C>T	c.(1339-1341)AAC>AAT	p.N447N		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	447	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATGACAACGCCCCCGCCT	0.597													T	140573466	C	T	140573466	2	4	139	1	0	0	0	0	0	0	0	1	11535	535	19	1		1	PCDHB10	5	140573466	Silent	SNP	C	TCGA-CD-5804-01A-12D-2053-08	365651	140573466	40341794	23	79546											
PCDHB14	56122	broad.mit.edu	37	chr5	140604275	140604275	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaccgaccttcaagaacTttttcactctagtttctgaa	5	10	4	3			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr5:140604275T>A	uc003ljb.2	+	1	1198	c.1198T>A	c.(1198-1200)TTT>ATT	p.F400I	PCDHB14_uc011dal.1_Missense_Mutation_p.F247I	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	400	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCAAGAACTTTTTCACTCT	0.448													A	140604275	T	A	140604275	3	1	139	1	0	0	0	0	1	0	0	0	11539	1609	56	5	1200	5	PCDHB14	5	140604275	Missense_Mutation	SNP	T	TCGA-CD-5804-01A-12D-2053-08	30809	140604275	40310985	24	79547											
STK32A	202374	broad.mit.edu	37	chr5	146752830	146752830	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgggatgcagtttttcagaaGaggctcattccaggtttcat	11	7	3	2			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr5:146752830G>C	uc010jgn.1	+	10	1156	c.876G>C	c.(874-876)AAG>AAC	p.K292N	STK32A_uc003lom.2_Missense_Mutation_p.K292N|STK32A_uc011dbw.1_Missense_Mutation_p.K292N	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A isoform 1	292							ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTTCAGAAGAGGCTCATTC	0.303													C	146752830	G	C	146752830	3	2	139	1	0	0	0	0	1	0	0	0	15296	933	33	5	943	5	STK32A	5	146752830	Missense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08	6148555	146752830	34162430	25	79548											
GPX6	257202	broad.mit.edu	37	chr6	28478622	28478622	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattggatgtactcctcgccGttgagggtgagggctccata	13	9	0	2			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr6:28478622G>A	uc011dlj.1	-	2	197	c.147C>T	c.(145-147)AAC>AAT	p.N49N	GPX6_uc010jrg.1_RNA	NM_182701	NP_874360	P59796	GPX6_HUMAN	glutathione peroxidase 6 precursor	49					response to oxidative stress	extracellular region	glutathione peroxidase activity			ovary(3)|pancreas(1)|skin(1)	5					Glutathione(DB00143)	ACTCCTCGCCGTTGAGGGTGA	0.458													A	28478622	G	A	28478622	2	1	139	1	0	0	0	0	0	0	0	1	6744	1136	40	1		1	GPX6	6	28478622	Silent	SNP	G	TCGA-CD-5804-01A-12D-2053-08		28478622	142636445	26	79549											
PRIM2	5558	broad.mit.edu	37	chr6	57512667	57512667	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cctctctggaaatggatatgGaaggactagaggattacttt	11	6	1	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr6:57512667G>T	uc003pdx.2	+	15	1582	c.1495G>T	c.(1495-1497)GAA>TAA	p.E499*		NM_000947	NP_000938	P49643	PRI2_HUMAN	DNA primase polypeptide 2	499					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AATGGATATGGAAGGACTAGA	0.388													T	57512667	G	T	57512667	4	4	139	1	0	0	0	0	0	1	0	0	12491	1175	41	5	1545	5	PRIM2	6	57512667	Nonsense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08	29034045	57512667	113602400	27	79550											
BAI3	577	broad.mit.edu	37	chr6	70070788	70070788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaggatattggtccttgccGagcagccacaataacaggaa	10	9	0	0	rs144968426		TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr6:70070788G>A	uc003pev.3	+	29	4071	c.3623G>A	c.(3622-3624)CGA>CAA	p.R1208Q	BAI3_uc010kak.2_Missense_Mutation_p.R1208Q|BAI3_uc011dxx.1_Missense_Mutation_p.R414Q	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1208	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				GGTCCTTGCCGAGCAGCCACA	0.358													A	70070788	G	A	70070788	3	1	139	1	0	0	0	0	1	0	0	0	1300	1058	37	1	3729	1	BAI3	6	70070788	Missense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08	12558121	70070788	101044279	28	79551											
COL12A1	1303	broad.mit.edu	37	chr6	75828817	75828817	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcctgggaccgaccgtccgtGaccacaaccaacaccttagg	9	16	0	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr6:75828817G>T	uc003phs.2	-	46	7462	c.7296C>A	c.(7294-7296)GTC>GTA	p.V2432V	COL12A1_uc003pht.2_Silent_p.V1268V	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2432	VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GACCGTCCGTGACCACAACCA	0.493													T	75828817	G	T	75828817	2	4	139	1	0	0	0	0	0	0	0	1	3669	1277	45	5		5	COL12A1	6	75828817	Silent	SNP	G	TCGA-CD-5804-01A-12D-2053-08	5758029	75828817	95286250	29	79552											
LAMA4	3910	broad.mit.edu	37	chr6	112499358	112499358	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatatcatgggcttgctctAccagctgacttgcgtggtta	10	10	3	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr6:112499358A>G	uc003pvu.2	-	10	1463	c.1154T>C	c.(1153-1155)GTA>GCA	p.V385A	LAMA4_uc003pvv.2_Missense_Mutation_p.V378A|LAMA4_uc003pvt.2_Missense_Mutation_p.V378A	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	385	Potential.|Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGCTTGCTCTACCAGCTGACT	0.378													G	112499358	A	G	112499358	3	3	139	1	0	0	0	0	1	0	0	0	8608	391	14	3	4437	3	LAMA4	6	112499358	Missense_Mutation	SNP	A	TCGA-CD-5804-01A-12D-2053-08	36670541	112499358	58615709	30	79553											
WBSCR17	64409	broad.mit.edu	37	chr7	70800611	70800611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccggctactctttcccCggctgaagaagaaaaggcta	9	13	1	3			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr7:70800611C>T	uc003tvy.2	+	2	314	c.314C>T	c.(313-315)CCG>CTG	p.P105L	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	105	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ACTCTTTCCCCGGCTGAAGAA	0.473													T	70800611	C	T	70800611	3	4	139	1	0	0	0	0	1	0	0	0	17261	652	23	1	320	1	WBSCR17	7	70800611	Missense_Mutation	SNP	C	TCGA-CD-5804-01A-12D-2053-08		70800611	88338052	31	79554											
AP4M1	9179	broad.mit.edu	37	chr7	99699356	99699356	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgatttcccaattcttcAttctgtcctccaagggggac	7	13	3	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr7:99699356A>G	uc003utb.3	+	1	227	c.19A>G	c.(19-21)ATT>GTT	p.I7V	MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'UTR|MCM7_uc003usx.1_5'UTR|AP4M1_uc011kjg.1_Missense_Mutation_p.I7V|AP4M1_uc010lgl.1_Missense_Mutation_p.I7V|AP4M1_uc003utc.3_Missense_Mutation_p.I7V|AP4M1_uc010lgm.2_5'UTR|AP4M1_uc003utd.2_Missense_Mutation_p.I7V|AP4M1_uc011kjh.1_5'Flank|AP4M1_uc003ute.3_5'Flank|AP4M1_uc003utf.3_5'Flank	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	7					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCAATTCTTCATTCTGTCCTC	0.632													G	99699356	A	G	99699356	3	3	139	1	0	0	0	0	1	0	0	0	753	217	8	3	21	3	AP4M1	7	99699356	Missense_Mutation	SNP	A	TCGA-CD-5804-01A-12D-2053-08	28898745	99699356	59439307	32	79555											
MOGAT3	346606	broad.mit.edu	37	chr7	100842085	100842085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagcacgtagttccgatcCgggggcagctctgctgtttt	12	13	1	0			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr7:100842085C>T	uc003uyc.2	-	4	482	c.315G>A	c.(313-315)CCG>CCA	p.P105P	MOGAT3_uc010lhr.2_Silent_p.P105P	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	105					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			ovary(2)	2	Lung NSC(181;0.168)|all_lung(186;0.215)					AGTTCCGATCCGGGGGCAGCT	0.587													T	100842085	C	T	100842085	2	4	139	1	0	0	0	0	0	0	0	1	9696	639	23	1		1	MOGAT3	7	100842085	Silent	SNP	C	TCGA-CD-5804-01A-12D-2053-08	1142729	100842085	58296578	33	79556											
TMEM140	55281	broad.mit.edu	37	chr7	134849342	134849342	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacctgagaatcggcttctAtaacttctgcctgtggaatg	9	10	2	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr7:134849342A>G	uc003vsi.2	+	2	430	c.149A>G	c.(148-150)TAT>TGT	p.Y50C	C7orf49_uc003vsh.2_Intron	NM_018295	NP_060765	Q9NV12	TM140_HUMAN	transmembrane protein 140	50	Extracellular (Potential).					integral to membrane				large_intestine(1)	1						ATCGGCTTCTATAACTTCTGC	0.572													G	134849342	A	G	134849342	3	3	139	1	0	0	0	0	1	0	0	0	16052	449	16	3	151	3	TMEM140	7	134849342	Missense_Mutation	SNP	A	TCGA-CD-5804-01A-12D-2053-08	34007257	134849342	24289321	34	79557											
CNTNAP2	26047	broad.mit.edu	37	chr7	147092772	147092772	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaaggatgcatgcagctcAttcaagtggacgatcaactt	9	10	3	0			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr7:147092772A>C	uc003weu.1	+	10	2086	c.1570A>C	c.(1570-1572)ATT>CTT	p.I524L		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	524	Extracellular (Potential).|Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CATGCAGCTCATTCAAGTGGA	0.428										HNSCC(39;0.1)			C	147092772	A	C	147092772	3	2	139	1	0	0	0	0	1	0	0	0	3647	217	8	5	1608	5	CNTNAP2	7	147092772	Missense_Mutation	SNP	A	TCGA-CD-5804-01A-12D-2053-08	12243430	147092772	12045891	35	79558											
PXDNL	137902	broad.mit.edu	37	chr8	52721826	52721826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcttaaagcaaaggcaccGgctggggcagggcaaccctg	14	12	1	0			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr8:52721826G>A	uc003xqu.3	-	1	180	c.79C>T	c.(79-81)CGG>TGG	p.R27W		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	27	LRRNT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CAAAGGCACCGGCTGGGGCAG	0.582													A	52721826	G	A	52721826	3	1	139	1	0	0	0	0	1	0	0	0	12848	1115	39	1	4404	1	PXDNL	8	52721826	Missense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08		52721826	93642196	36	79559											
CHD7	55636	broad.mit.edu	37	chr8	61757606	61757606	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggatggccagactcgagcCttggtcaaccattccggtag	13	12	1	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr8:61757606C>T	uc003xue.2	+	22	5511	c.5034C>T	c.(5032-5034)GCC>GCT	p.A1678A		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1678					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGACTCGAGCCTTGGTCAACC	0.478													T	61757606	C	T	61757606	2	4	139	1	0	0	0	0	0	0	0	1	3330	668	24	4		4	CHD7	8	61757606	Silent	SNP	C	TCGA-CD-5804-01A-12D-2053-08	9035780	61757606	84606416	37	79560											
TTPA	7274	broad.mit.edu	37	chr8	63973833	63973833	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgaatgctctcagaaatgCtgctgagataatcttcagac	8	8	3	4			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr8:63973833C>A	uc003xux.1	-	5	847	c.815G>T	c.(814-816)AGC>ATC	p.S272I		NM_000370	NP_000361	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	272					lipid metabolic process		transporter activity|vitamin E binding				0	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	CTCAGAAATGCTGCTGAGATA	0.358													A	63973833	C	A	63973833	3	1	139	1	0	0	0	0	1	0	0	0	16733	797	28	5	25	5	TTPA	8	63973833	Missense_Mutation	SNP	C	TCGA-CD-5804-01A-12D-2053-08	2216227	63973833	82390189	38	79561											
VCPIP1	80124	broad.mit.edu	37	chr8	67578740	67578740	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaacagttcgccctggttcaTgtcccggagaagcttggccc	12	13	1	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr8:67578740T>A	uc003xwn.2	-	1	713	c.454A>T	c.(454-456)ATG>TTG	p.M152L	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	152					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CCCTGGTTCATGTCCCGGAGA	0.542													A	67578740	T	A	67578740	3	1	139	1	0	0	0	0	1	0	0	0	17138	1464	51	5	3226	5	VCPIP1	8	67578740	Missense_Mutation	SNP	T	TCGA-CD-5804-01A-12D-2053-08	3604907	67578740	78785282	39	79562											
LINGO2	158038	broad.mit.edu	37	chr9	27949433	27949433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctgcaacttcttttcacGgattttgggttttttgcagg	10	7	2	0			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr9:27949433G>A	uc003zqu.1	-	2	1431	c.1237C>T	c.(1237-1239)CGT>TGT	p.R413C	LINGO2_uc010mjf.1_Missense_Mutation_p.R413C|LINGO2_uc003zqv.1_Missense_Mutation_p.R413C	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	413	Ig-like C2-type.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TTCTTTTCACGGATTTTGGGT	0.488													A	27949433	G	A	27949433	3	1	139	1	0	0	0	0	1	0	0	0	8815	1116	39	1	587	1	LINGO2	9	27949433	Missense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08		27949433	113263998	40	79563											
ANKRD20A3	441425	broad.mit.edu	37	chr9	42368565	42368565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacgccgcggaggtggagCgctgcttggcgcgcaggagc	20	12	0	0			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr9:42368565C>T	uc004acd.2	+	1	263	c.151C>T	c.(151-153)CGC>TGC	p.R51C	ANKRD20A3_uc010mmv.2_Missense_Mutation_p.R51C	NM_001012419	NP_001012419	Q5VUR7	A20A3_HUMAN	ankyrin repeat domain 20 family, member A3	51											0						GGAGGTGGAGCGCTGCTTGGC	0.682													T	42368565	C	T	42368565	3	4	139	1	0	0	0	0	1	0	0	0	649	768	27	1	153	1	ANKRD20A3	9	42368565	Missense_Mutation	SNP	C	TCGA-CD-5804-01A-12D-2053-08	14419132	42368565	98844866	41	79564											
CDK20	23552	broad.mit.edu	37	chr9	90584120	90584120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccctaccttggaagctgCgatgcgctggtgaggagggt	15	11	0	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr9:90584120C>T	uc004apr.2	-	7	1138	c.832G>A	c.(832-834)GCA>ACA	p.A278T	CDK20_uc004aps.2_Missense_Mutation_p.A257T|CDK20_uc004apt.2_Missense_Mutation_p.A270T|CDK20_uc004apu.2_Silent_p.S215S	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	cell cycle related kinase isoform 3	278	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						TTGGAAGCTGCGATGCGCTGG	0.602													T	90584120	C	T	90584120	3	4	139	1	0	0	0	0	1	0	0	0	3137	768	27	1	216	1	CDK20	9	90584120	Missense_Mutation	SNP	C	TCGA-CD-5804-01A-12D-2053-08	48215555	90584120	50629311	42	79565											
WNK2	65268	broad.mit.edu	37	chr9	96061535	96061535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgatggaggcggagcgcGtggccaaggtgatttccagc	17	9	0	2			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr9:96061535G>A	uc004ati.1	+	25	6218	c.6218G>A	c.(6217-6219)CGT>CAT	p.R2073H	WNK2_uc011lud.1_Missense_Mutation_p.R2036H|WNK2_uc004atj.2_Missense_Mutation_p.R2036H|WNK2_uc004atk.2_Intron|WNK2_uc004atl.1_Missense_Mutation_p.R630H	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2073					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						GGCGGAGCGCGTGGCCAAGGT	0.647													A	96061535	G	A	96061535	3	1	139	1	0	0	0	0	1	0	0	0	17375	1145	40	1	6201	1	WNK2	9	96061535	Missense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08	5477415	96061535	45151896	43	79566											
COL15A1	1306	broad.mit.edu	37	chr9	101824554	101824554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactgatccccattcctgccGacagccctccaccccctgcg	6	21	0	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr9:101824554G>A	uc004azb.1	+	38	3765	c.3559G>A	c.(3559-3561)GAC>AAC	p.D1187N		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1187	Nonhelical region 10 (NC10).			Missing (in Ref. 2; AAC78500).	angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				CATTCCTGCCGACAGCCCTCC	0.438													A	101824554	G	A	101824554	3	1	139	1	0	0	0	0	1	0	0	0	3672	1058	37	1	3709	1	COL15A1	9	101824554	Missense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08	5763019	101824554	39388877	44	79567											
IKBKAP	8518	broad.mit.edu	37	chr9	111642444	111642444	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgccatataatttttctgGgctggagatgcagaatggaa	11	5	1	2			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr9:111642444G>A	uc004bdm.3	-	32	3868	c.3348C>T	c.(3346-3348)GCC>GCT	p.A1116A	IKBKAP_uc004bdl.2_Silent_p.A767A|IKBKAP_uc011lwc.1_Silent_p.A1002A|IKBKAP_uc010mtq.2_Silent_p.A767A|IKBKAP_uc004bdk.2_Silent_p.A120A|IKBKAP_uc010mtp.2_RNA	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	1116					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						AATTTTTCTGGGCTGGAGATG	0.438													A	111642444	G	A	111642444	2	1	139	1	0	0	0	0	0	0	0	1	7610	1246	43	4		4	IKBKAP	9	111642444	Silent	SNP	G	TCGA-CD-5804-01A-12D-2053-08	9817890	111642444	29570987	45	79568											
HSDL2	84263	broad.mit.edu	37	chr9	115221775	115221775	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gatctgaaaagcaagggtggGaatgtcggatatggagagcc	16	5	1	2			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr9:115221775G>T	uc004bga.1	+	10	1155	c.1062G>T	c.(1060-1062)GGG>GGT	p.G354G	HSDL2_uc011lwv.1_Silent_p.G233G|HSDL2_uc004bgb.1_Silent_p.G188G|HSDL2_uc004bgc.1_Silent_p.G281G|HSDL2_uc011lww.1_Silent_p.G149G	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	354	SCP2.					peroxisome	oxidoreductase activity|sterol binding				0						GCAAGGGTGGGAATGTCGGAT	0.398													T	115221775	G	T	115221775	2	4	139	1	0	0	0	0	0	0	0	1	7394	1161	41	5		5	HSDL2	9	115221775	Silent	SNP	G	TCGA-CD-5804-01A-12D-2053-08	3579331	115221775	25991656	46	79569											
PAPPA	5069	broad.mit.edu	37	chr9	119106854	119106854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcatgtgagaaaactgactGtccagagctggctgtggaga	14	8	0	4			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr9:119106854G>A	uc004bjn.2	+	14	4025	c.3644G>A	c.(3643-3645)TGT>TAT	p.C1215Y	PAPPA_uc011lxq.1_Missense_Mutation_p.C590Y	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1215	Sushi 1.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						AAAACTGACTGTCCAGAGCTG	0.557													A	119106854	G	A	119106854	3	1	139	1	0	0	0	0	1	0	0	0	11432	1377	48	4	3698	4	PAPPA	9	119106854	Missense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08	3885079	119106854	22106577	47	79570											
UBAC1	10422	broad.mit.edu	37	chr9	138838155	138838155	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccactgcatctgggttcagCgctaacagcttctgcgccac	9	15	3	0			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr9:138838155C>T	uc004cgt.2	-	5	722	c.504G>A	c.(502-504)GCG>GCA	p.A168A	UBAC1_uc004cgs.1_Silent_p.A168A|UBAC1_uc004cgu.2_RNA	NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	ubiquitin associated domain containing 1	168						Golgi apparatus|plasma membrane	protein binding			skin(2)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		CTGGGTTCAGCGCTAACAGCT	0.512													T	138838155	C	T	138838155	2	4	139	1	0	0	0	0	0	0	0	1	16831	755	27	1		1	UBAC1	9	138838155	Silent	SNP	C	TCGA-CD-5804-01A-12D-2053-08	19731301	138838155	2375276	48	79571											
PRKCQ	5588	broad.mit.edu	37	chr10	6520982	6520982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgtacaaaacatgtgcGtcagaaacggatgctcccag	11	9	1	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr10:6520982G>A	uc001ijj.1	-	12	1400	c.1325C>T	c.(1324-1326)ACG>ATG	p.T442M	PRKCQ_uc009xim.1_Missense_Mutation_p.T442M|PRKCQ_uc001iji.1_Missense_Mutation_p.T475M|PRKCQ_uc009xin.1_Missense_Mutation_p.T406M|PRKCQ_uc010qax.1_Missense_Mutation_p.T317M	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	442	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						AAACATGTGCGTCAGAAACGG	0.498													A	6520982	G	A	6520982	3	1	139	1	0	0	0	0	1	0	0	0	12515	1145	40	1	823	1	PRKCQ	10	6520982	Missense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08		6520982	129013765	49	79572											
COL17A1	1308	broad.mit.edu	37	chr10	105819938	105819938	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccttggtcatgatgagCagctccatctccttcttggc	9	13	3	2			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr10:105819938C>A	uc001kxr.2	-	14	1249	c.1080G>T	c.(1078-1080)CTG>CTT	p.L360L	COL17A1_uc010qqv.1_Silent_p.L344L	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	360	Cytoplasmic (Potential).|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCATGATGAGCAGCTCCATCT	0.532													A	105819938	C	A	105819938	2	1	139	1	0	0	0	0	0	0	0	1	3674	697	25	5		5	COL17A1	10	105819938	Silent	SNP	C	TCGA-CD-5804-01A-12D-2053-08	99298956	105819938	29714809	50	79573											
SORCS3	22986	broad.mit.edu	37	chr10	106970990	106970990	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggactgcagccttggtcaaaGctaccttaacagcactgggt	11	11	1	0			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr10:106970990G>T	uc001kyi.1	+	17	2584	c.2357G>T	c.(2356-2358)AGC>ATC	p.S786I	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	786	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTTGGTCAAAGCTACCTTAAC	0.473													T	106970990	G	T	106970990	3	4	139	1	0	0	0	0	1	0	0	0	14932	971	34	5	2423	5	SORCS3	10	106970990	Missense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08	1151052	106970990	28563757	51	79574											
PWWP2B	170394	broad.mit.edu	37	chr10	134219292	134219292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagcagcgacagcctggacGaggccagatcgtccggctcg	15	14	0	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr10:134219292G>A	uc001lll.3	+	2	1317	c.1288G>A	c.(1288-1290)GAG>AAG	p.E430K	PWWP2B_uc009ybe.2_Missense_Mutation_p.E430K	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2 isoform 1	430											0		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CAGCCTGGACGAGGCCAGATC	0.697													A	134219292	G	A	134219292	3	1	139	1	0	0	0	0	1	0	0	0	12846	1059	37	1	1294	1	PWWP2B	10	134219292	Missense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08	27248302	134219292	1315455	52	79575											
NLRP6	171389	broad.mit.edu	37	chr11	281566	281566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagccagaggaggaggaggAgggagaggagcccaactacc	18	8	0	3			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr11:281566A>G	uc010qvs.1	+	4	1832	c.1832A>G	c.(1831-1833)GAG>GGG	p.E611G	NLRP6_uc010qvt.1_Missense_Mutation_p.E611G	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.					cytoplasm	ATP binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662													G	281566	A	G	281566	3	3	139	1	0	0	0	0	1	0	0	0	10481	304	11	3	1846	3	NLRP6	11	281566	Missense_Mutation	SNP	A	TCGA-CD-5804-01A-12D-2053-08		281566	134724950	53	79576											
MICALCL	84953	broad.mit.edu	37	chr11	12316180	12316180	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcacttttttcctccctcaGactcaaagacaaatcttttg	3	13	4	2			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr11:12316180G>A	uc001mkg.1	+	3	1493	c.1202G>A	c.(1201-1203)AGA>AAA	p.R401K		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	401					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)		TCCTCCCTCAGACTCAAAGAC	0.463													A	12316180	G	A	12316180	3	1	139	1	0	0	0	0	1	0	0	0	9572	942	33	4	1208	4	MICALCL	11	12316180	Missense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08	12034614	12316180	122690336	54	79577											
ANO3	63982	broad.mit.edu	37	chr11	26552873	26552873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccccttcagccgtgcaCggattcaccagtgagttccc	10	16	2	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr11:26552873C>T	uc001mqt.3	+	8	1004	c.859C>T	c.(859-861)CGG>TGG	p.R287W	ANO3_uc010rdr.1_Missense_Mutation_p.R271W|ANO3_uc010rds.1_Missense_Mutation_p.R126W|ANO3_uc010rdt.1_Missense_Mutation_p.R141W	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	287	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CAGCCGTGCACGGATTCACCA	0.453													T	26552873	C	T	26552873	3	4	139	1	0	0	0	0	1	0	0	0	698	527	19	1	889	1	ANO3	11	26552873	Missense_Mutation	SNP	C	TCGA-CD-5804-01A-12D-2053-08	14236693	26552873	108453643	55	79578											
TTC17	55761	broad.mit.edu	37	chr11	43515387	43515387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcagcccgagtttgtccCagccaagaaccgaatccaga	9	14	1	2			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr11:43515387C>T	uc001mxi.2	+	24	3373	c.3359C>T	c.(3358-3360)CCA>CTA	p.P1120L	TTC17_uc010rfj.1_Missense_Mutation_p.P1120L|TTC17_uc001mxl.2_Missense_Mutation_p.P176L|TTC17_uc001mxm.2_Missense_Mutation_p.P101L	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1120							binding			ovary(5)	5						GAGTTTGTCCCAGCCAAGAAC	0.488													T	43515387	C	T	43515387	3	4	139	1	0	0	0	0	1	0	0	0	16681	594	21	4	3453	4	TTC17	11	43515387	Missense_Mutation	SNP	C	TCGA-CD-5804-01A-12D-2053-08	16962514	43515387	91491129	56	79579											
SCGB1D4	404552	broad.mit.edu	37	chr11	62064987	62064987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcttaaaagatatctgatCggtgcagtgcttcacttcca	7	9	3	2	rs149931773	byFrequency	TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr11:62064987C>T	uc001ntd.1	-	2	253	c.199G>A	c.(199-201)GAT>AAT	p.D67N		NM_206998	NP_996881	Q6XE38	SG1D4_HUMAN	secretoglobin family 1D member 4 precursor	67						extracellular region	binding				0						GATATCTGATCGGTGCAGTGC	0.443													T	62064987	C	T	62064987	3	4	139	1	0	0	0	0	1	0	0	0	13898	884	31	1	60	1	SCGB1D4	11	62064987	Missense_Mutation	SNP	C	TCGA-CD-5804-01A-12D-2053-08	18549600	62064987	72941529	57	79580											
PYGM	5837	broad.mit.edu	37	chr11	64519413	64519413	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacggttgtacagggtgatgAcatggaggcagttgaggagc	17	6	0	3			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr11:64519413A>G	uc001oax.3	-	14	2568	c.1751T>C	c.(1750-1752)GTC>GCC	p.V584A	PYGM_uc001oay.3_Missense_Mutation_p.V496A	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	584					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	CAGGGTGATGACATGGAGGCA	0.498													G	64519413	A	G	64519413	3	3	139	1	0	0	0	0	1	0	0	0	12862	275	10	3	805	3	PYGM	11	64519413	Missense_Mutation	SNP	A	TCGA-CD-5804-01A-12D-2053-08	2454426	64519413	70487103	58	79581											
FAT3	120114	broad.mit.edu	37	chr11	92532764	92532764	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccttttatacagcatctgtCaatgaagacatcagaatgaa	6	9	3	4			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr11:92532764C>T	uc001pdj.3	+	9	6602	c.6585C>T	c.(6583-6585)GTC>GTT	p.V2195V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2195	Cadherin 20.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGCATCTGTCAATGAAGACA	0.428										TCGA Ovarian(4;0.039)			T	92532764	C	T	92532764	2	4	139	1	0	0	0	0	0	0	0	1	5691	813	29	4		4	FAT3	11	92532764	Silent	SNP	C	TCGA-CD-5804-01A-12D-2053-08	28013351	92532764	42473752	59	79582											
DBX2	440097	broad.mit.edu	37	chr12	45444341	45444341	+	Frame_Shift_Del	DEL	C	C	-													ctggaaggtacagtctcggtCccccggagcccggcccggca							TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr12:45444341delC	uc001rok.1	-	1	542	c.370delG	c.(370-372)GACfs	p.D124fs		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	124						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		CAGTCTCGGTCCCCCGGAGCC	0.716													-	45444341	C	-	45444341	7	5	139	1	0	1	0	1	0	0	0	0	4260	855	30	0	665	0	DBX2	12	45444341	Frame_Shift_Del	DEL	C	TCGA-CD-5804-01A-12D-2053-08		45444341	88407554	60	79583											
PDE1B	5153	broad.mit.edu	37	chr12	54968991	54968993	+	In_Frame_Del	DEL	TTC	TTC	-													ccaaggccctcatggaggaaTtcttccgtcaggtagcgtgg							TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr12:54968990_54968992ATTC>A	uc001sgd.2	+	10	1566_1568	c.1173_1175ATTC>A	c.(1171-1176)gaattc>gaAc	p.F393del	PDE1B_uc010soz.2_In_Frame_Del_p.F256del|PDE1B_uc010spa.1_In_Frame_Del_p.F352del|PDE1B_uc001sge.3_In_Frame_Del_p.F373del|PDE1B_uc001sgf.3_In_Frame_Del_p.F256del|PDE1B_uc009znq.3_In_Frame_Del_p.F189del	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	393	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.F392L(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TCATGGAGGAATTCTTCCGTCAG	0.581													-	54968993	TTC	-	54968991	7	5	139	1	0	1	0	1	0	0	0	0	11634	1493	52	0	1269	0	PDE1B	12	54968991	In_Frame_Del	DEL	TTC	TCGA-CD-5804-01A-12D-2053-08	9524650	54968991	78882904	61	79584											
ARL1	400	broad.mit.edu	37	chr12	101799750	101799750	+	Frame_Shift_Del	DEL	A	A	-													gactggaaaatatacttgagAaaaagccacctaaaaaataa							TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr12:101799750delA	uc001tib.2	-	2	163	c.14delT	c.(13-15)TTCfs	p.F5fs	ARL1_uc010svn.1_Intron|ARL1_uc010svo.1_RNA|ARL1_uc001tic.2_Frame_Shift_Del_p.F5fs	NM_001177	NP_001168	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	5					small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding			central_nervous_system(1)	1		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		TATACTTGAGAAAAAGCCACC	0.313													-	101799750	A	-	101799750	7	5	139	1	0	1	0	1	0	0	0	0	925	246	9	0	551	0	ARL1	12	101799750	Frame_Shift_Del	DEL	A	TCGA-CD-5804-01A-12D-2053-08	46830759	101799750	32052145	62	79585											
TMEM132D	121256	broad.mit.edu	37	chr12	129558572	129558572	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctgaggagacggcggtgaAggtggtaaattttacccttt	14	6	1	3			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr12:129558572A>G	uc009zyl.1	-	9	3476	c.3148T>C	c.(3148-3150)TTC>CTC	p.F1050L	TMEM132D_uc001uia.2_Missense_Mutation_p.F588L	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	1050	Cytoplasmic (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACGGCGGTGAAGGTGGTAAAT	0.507													G	129558572	A	G	129558572	3	3	139	1	0	0	0	0	1	0	0	0	16044	72	3	3	155	3	TMEM132D	12	129558572	Missense_Mutation	SNP	A	TCGA-CD-5804-01A-12D-2053-08	27758822	129558572	4293323	63	79586											
MIPEP	4285	broad.mit.edu	37	chr13	24384033	24384033	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaacctttttagattcacAaagacgagacaccatatttt	4	9	1	3			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr13:24384033A>C	uc001uox.3	-	15	1784	c.1684T>G	c.(1684-1686)TGT>GGT	p.C562G		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase precursor	562					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TTAGATTCACAAAGACGAGAC	0.358													C	24384033	A	C	24384033	3	2	139	1	0	0	0	0	1	0	0	0	9592	130	5	5	477	5	MIPEP	13	24384033	Missense_Mutation	SNP	A	TCGA-CD-5804-01A-12D-2053-08		24384033	90785845	64	79587											
USPL1	10208	broad.mit.edu	37	chr13	31231880	31231880	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accctaaagatatatcagttGcccctcgtactctttcacag	5	13	3	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr13:31231880G>T	uc001utc.2	+	9	2098	c.1666G>T	c.(1666-1668)GCC>TCC	p.A556S	USPL1_uc001utd.2_Missense_Mutation_p.A227S|USPL1_uc001ute.1_Missense_Mutation_p.A227S	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	556					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(2)|skin(1)	3		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TATATCAGTTGCCCCTCGTAC	0.423													T	31231880	G	T	31231880	3	4	139	1	0	0	0	0	1	0	0	0	17089	1319	46	5	1696	5	USPL1	13	31231880	Missense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08	6847847	31231880	83937998	65	79588											
KL	9365	broad.mit.edu	37	chr13	33638175	33638175	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactctggaaagattttgtcCagaagaattcaccgtgtgta	9	7	2	3			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr13:33638175C>A	uc001uus.2	+	5	2899	c.2891C>A	c.(2890-2892)CCA>CAA	p.P964Q		NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	964	Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGATTTTGTCCAGAAGAATTC	0.408													A	33638175	C	A	33638175	3	1	139	1	0	0	0	0	1	0	0	0	8331	594	21	5	2909	5	KL	13	33638175	Missense_Mutation	SNP	C	TCGA-CD-5804-01A-12D-2053-08	2406295	33638175	81531703	66	79589											
OR4K1	79544	broad.mit.edu	37	chr14	20404281	20404281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctatttcctgggcggtgggCgttcttcattctgtgagcca	12	10	4	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr14:20404281C>T	uc001vwj.1	+	1	456	c.456C>T	c.(454-456)GGC>GGT	p.G152G		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGGCGGTGGGCGTTCTTCATT	0.458													T	20404281	C	T	20404281	2	4	139	1	0	0	0	0	0	0	0	1	11067	755	27	1		1	OR4K1	14	20404281	Silent	SNP	C	TCGA-CD-5804-01A-12D-2053-08		20404281	86945259	67	79590											
MDGA2	161357	broad.mit.edu	37	chr14	47314968	47314968	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcaagcaaagatacttaCtcttagttgctaggtcttgt	7	8	3	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr14:47314968C>T	uc001wwj.3	-	16	2978	c.2782_splice	c.e16+1	p.N928_splice	MDGA2_uc001wwh.3_Splice_Site_p.N130_splice|MDGA2_uc001wwi.3_Splice_Site_p.N699_splice	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1						spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						AAGATACTTACTCTTAGTTGC	0.299													T	47314968	C	T	47314968	5	4	139	1	0	0	0	0	0	0	1	0	9407	579	20	4	95	4	MDGA2	14	47314968	Splice_Site	SNP	C	TCGA-CD-5804-01A-12D-2053-08	26910687	47314968	60034572	68	79591											
NIN	51199	broad.mit.edu	37	chr14	51219348	51219348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatagcatttctgttagaCgttgattaagttcttgcagt	10	6	2	2			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr14:51219348C>T	uc001wym.2	-	21	5029	c.4838G>A	c.(4837-4839)CGT>CAT	p.R1613H	NIN_uc001wyi.2_Missense_Mutation_p.R1613H|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.R900H|NIN_uc010tqp.1_Missense_Mutation_p.R1619H|NIN_uc001wyo.2_Missense_Mutation_p.R1613H	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1613	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					TTCTGTTAGACGTTGATTAAG	0.368			T	PDGFRB	MPD								T	51219348	C	T	51219348	3	4	139	1	0	0	0	0	1	0	0	0	10417	536	19	1	1755	1	NIN	14	51219348	Missense_Mutation	SNP	C	TCGA-CD-5804-01A-12D-2053-08	3904380	51219348	56130192	69	79592											
RGS6	9628	broad.mit.edu	37	chr14	72941366	72941366	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacaacagaaatggatatcCgaaaatgtcgacgtttgaag	9	7	0	2			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr14:72941366C>T	uc001xna.3	+	10	1175	c.652C>T	c.(652-654)CGA>TGA	p.R218*	RGS6_uc010ttn.1_Nonsense_Mutation_p.R218*|RGS6_uc001xmx.3_Nonsense_Mutation_p.R218*|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Nonsense_Mutation_p.R218*|RGS6_uc010ttp.1_Nonsense_Mutation_p.R149*|RGS6_uc001xmz.1_Nonsense_Mutation_p.R79*	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	218					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AATGGATATCCGAAAATGTCG	0.363													T	72941366	C	T	72941366	4	4	139	1	0	0	0	0	0	1	0	0	13309	644	23	1	686	1	RGS6	14	72941366	Nonsense_Mutation	SNP	C	TCGA-CD-5804-01A-12D-2053-08	21722018	72941366	34408174	70	79593											
EIF2B2	8892	broad.mit.edu	37	chr14	75469999	75469999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgatggagctgatccGcagagagggcaggaggatga	19	6	0	4			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr14:75469999G>A	uc001xrc.1	+	2	267	c.185G>A	c.(184-186)CGC>CAC	p.R62H		NM_014239	NP_055054	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B,	62					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00661)		GAGCTGATCCGCAGAGAGGGC	0.592													A	75469999	G	A	75469999	3	1	139	1	0	0	0	0	1	0	0	0	5001	1087	38	1	191	1	EIF2B2	14	75469999	Missense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08	2528633	75469999	31879541	71	79594											
GABRB3	2562	broad.mit.edu	37	chr15	26793117	26793117	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gggaggcttctgtcccccagGaatcgcccatgcccttctcg	11	16	2	0			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr15:26793117G>C	uc001zaz.2	-	9	1387	c.1245C>G	c.(1243-1245)TTC>TTG	p.F415L	GABRB3_uc010uae.1_Missense_Mutation_p.F330L|GABRB3_uc001zba.2_Missense_Mutation_p.F415L|GABRB3_uc001zbb.2_Missense_Mutation_p.F471L	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	415	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGTCCCCCAGGAATCGCCCAT	0.502													C	26793117	G	C	26793117	3	2	139	1	0	0	0	0	1	0	0	0	6168	1165	41	5	180	5	GABRB3	15	26793117	Missense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08		26793117	75738275	72	79595											
SLC12A1	6557	broad.mit.edu	37	chr15	48533736	48533736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaagatgccatccccagaGgaaccatgctggccattttc	8	15	0	2			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr15:48533736G>A	uc001zwn.3	+	10	1456	c.1240G>A	c.(1240-1242)GGA>AGA	p.G414R	SLC12A1_uc010uew.1_Missense_Mutation_p.G220R|SLC12A1_uc010bem.2_Missense_Mutation_p.G414R|SLC12A1_uc001zwq.3_Missense_Mutation_p.G185R|SLC12A1_uc001zwr.3_Missense_Mutation_p.G141R	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	414	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CATCCCCAGAGGAACCATGCT	0.418													A	48533736	G	A	48533736	3	1	139	1	0	0	0	0	1	0	0	0	14382	1001	35	4	1374	4	SLC12A1	15	48533736	Missense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08	21740619	48533736	53997656	73	79596											
DNAH3	55567	broad.mit.edu	37	chr16	21073986	21073986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatttccagcagctcatcGtttgataggaagaagaatct	9	7	2	4			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr16:21073986G>A	uc010vbe.1	-	25	3537	c.3537C>T	c.(3535-3537)AAC>AAT	p.N1179N		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1179	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GCAGCTCATCGTTTGATAGGA	0.433													A	21073986	G	A	21073986	2	1	139	1	0	0	0	0	0	0	0	1	4603	1136	40	1		1	DNAH3	16	21073986	Silent	SNP	G	TCGA-CD-5804-01A-12D-2053-08		21073986	69280767	74	79597											
SALL1	6299	broad.mit.edu	37	chr16	51174686	51174696	+	Frame_Shift_Del	DEL	CGCAGATGTTG	CGCAGATGTTG	-													cttggtggagaacctgttccCgcagatgttgcacttgaatg					rs148915594		TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr16:51174685_51174695CCGCAGATGTTG>C	uc021tif.1	-	1	1469_1479	c.1147_1157CAACATCTGCGG>G	c.(1147-1158)aacatctgcgggfs	p.N383fs	SALL1_uc021tid.1_Frame_Shift_Del_p.N383fs|SALL1_uc021tie.1_Frame_Shift_Del_p.N480fs|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	480					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G483W(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAACCTGTTCCCGCAGATGTTGCACTTGAAT	0.517													-	51174696	CGCAGATGTTG	-	51174686	7	5	139	1	0	1	0	1	0	0	0	0	13810	652	23	0	2535	0	SALL1	16	51174686	Frame_Shift_Del	DEL	CGCAGATGTTG	TCGA-CD-5804-01A-12D-2053-08	30100700	51174686	39180067	75	79598											
TP53	7157	broad.mit.edu	37	chr17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcggaacatctcgaagcGctcacgcccacggatctgca	9	16	4	0			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr17:7574018G>A	uc002gim.2	-	10	1203	c.1009C>T	c.(1009-1011)CGC>TGC	p.R337C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.R205C|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.R337C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	337	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R337C(12)|p.0?(7)|p.R337L(5)|p.R337H(2)|p.?(1)|p.I332fs*5(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATCTCGAAGCGCTCACGCCCA	0.448		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7574018	G	A	7574018	3	1	139	1	0	0	0	0	1	0	0	0	16378	1087	38	1	180	1	TP53	17	7574018	Missense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08		7574018	73621192	76	79599											
CHD3	1107	broad.mit.edu	37	chr17	7809236	7809236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgatgcgctgggggatGccaccacaggatgccttcac	14	12	1	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr17:7809236G>A	uc002gje.2	+	28	4437	c.4287G>A	c.(4285-4287)ATG>ATA	p.M1429I	CHD3_uc002gjd.2_Missense_Mutation_p.M1488I|CHD3_uc002gjf.2_Missense_Mutation_p.M1429I|CHD3_uc002gjh.2_Missense_Mutation_p.M5I|SCARNA21_uc002gji.1_5'Flank	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1429					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				GCTGGGGGATGCCACCACAGG	0.582													A	7809236	G	A	7809236	3	1	139	1	0	0	0	0	1	0	0	0	3326	1319	46	2	4678	2	CHD3	17	7809236	Missense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08	235218	7809236	73385974	77	79600											
RPL26	6154	broad.mit.edu	37	chr17	8280949	8280949	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttcctacttggcgagatTtggctttccgttcgaggatc	10	11	0	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr17:8280949T>C	uc002glh.1	-	4	467	c.371A>G	c.(370-372)AAA>AGA	p.K124R	KRBA2_uc002glg.1_5'Flank	NM_000987	NP_000978	P61254	RL26_HUMAN	ribosomal protein L26	124					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0						TTGGCGAGATTTGGCTTTCCG	0.368													C	8280949	T	C	8280949	3	2	139	1	0	0	0	0	1	0	0	0	13573	1841	64	3	70	3	RPL26	17	8280949	Missense_Mutation	SNP	T	TCGA-CD-5804-01A-12D-2053-08	471713	8280949	72914261	78	79601											
DNAH9	1770	broad.mit.edu	37	chr17	11532791	11532791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaggtggagttcagcggcGtcagagggaatgctctgagt	17	6	3	2			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr17:11532791G>A	uc002gne.2	+	7	1476	c.1408G>A	c.(1408-1410)GTC>ATC	p.V470I		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	470	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTTCAGCGGCGTCAGAGGGAA	0.458													A	11532791	G	A	11532791	3	1	139	1	0	0	0	0	1	0	0	0	4608	1145	40	1	1434	1	DNAH9	17	11532791	Missense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08	3251842	11532791	69662419	79	79602											
SGK494	124923	broad.mit.edu	37	chr17	26940280	26940280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtatctacgcccctacCttcactgcaaatacagcttt	6	13	2	0			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr17:26940280C>T	uc002hbr.1	-	3	440	c.408G>A	c.(406-408)AAG>AAA	p.K136K	SGK494_uc010waq.1_Silent_p.K136K|SGK494_uc010war.1_RNA|uc010crq.1_5'Flank|uc002hbs.1_Intron	NM_144610	NP_653211			uncharacterized serine/threonine-protein kinase												0						ACGCCCCTACCTTCACTGCAA	0.443											OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	26940280	C	T	26940280	2	4	139	1	0	0	0	0	0	0	0	1	14213	695	24	4		4	SGK494	17	26940280	Silent	SNP	C	TCGA-CD-5804-01A-12D-2053-08	15407489	26940280	54254930	80	79603											
USP36	57602	broad.mit.edu	37	chr17	76795809	76795809	+	Frame_Shift_Del	DEL	C	C	-													ttcctggaccacatcagactCccgctctccattccaagaca							TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr17:76795808_76795808TC>T	uc002jvz.1	-	17	3390	c.3065_3065GA>A	c.(3064-3066)gagfs	p.E1022fs	USP36_uc002jwa.1_Frame_Shift_Del_p.E1022fs|USP36_uc002jvy.1_Frame_Shift_Del_p.E82fs	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	1020					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CACATCAGACTCCCGCTCTCC	0.488													-	76795809	C	-	76795809	7	5	139	1	0	1	0	1	0	0	0	0	17064	864	30	0	319	0	USP36	17	76795809	Frame_Shift_Del	DEL	C	TCGA-CD-5804-01A-12D-2053-08	49855529	76795809	4399401	81	79604											
SMAD4	4089	broad.mit.edu	37	chr18	48591825	48591825	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtgttccattgcttactttGaaatggatgttcaggtagga	12	5	1	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr18:48591825G>A	uc010xdp.1	+	9	1526	c.988G>A	c.(988-990)GAA>AAA	p.E330K	SMAD4_uc002lfb.3_Missense_Mutation_p.E175K	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	330	MH2.		E -> G (in JPS).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(2)|p.E330A(2)|p.E330Q(1)|p.E330*(1)|p.E330K(1)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGCTTACTTTGAAATGGATGT	0.428									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				A	48591825	G	A	48591825	3	1	139	1	0	0	0	0	1	0	0	0	14760	1291	45	4	1018	4	SMAD4	18	48591825	Missense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08		48591825	29485423	82	79605											
CYP4F2	8529	broad.mit.edu	37	chr19	15989716	15989716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggaccaccttcatctcCgccatcgcgaacgtctgccc	8	19	3	0			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr19:15989716C>T	uc002nbs.1	-	13	1478	c.1428G>A	c.(1426-1428)GCG>GCA	p.A476A	CYP4F2_uc010xot.1_Silent_p.A327A	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	476					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2						CCTTCATCTCCGCCATCGCGA	0.672													T	15989716	C	T	15989716	2	4	139	1	0	0	0	0	0	0	0	1	4188	639	23	1		1	CYP4F2	19	15989716	Silent	SNP	C	TCGA-CD-5804-01A-12D-2053-08		15989716	43139267	83	79606											
FAM129C	199786	broad.mit.edu	37	chr19	17644504	17644517	+	Splice_Site	DEL	TCCTTGGGTAAGGG	TCCTTGGGTAAGGG	-													tggatgctctctgccctgaaTccttgggtaagggtcccggg							TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr19:17644503_17644516ATCCTTGGGTAAGGG>A	uc021uqj.1	+	5	658	c.520_splice	c.e5+1	p.G174_splice	FAM129C_uc021uqi.1_Splice_Site_p.G174_splice|FAM129C_uc010xps.2_Splice_Site_p.G143_splice|FAM129C_uc010xpt.2_Splice_Site	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.	174										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TCTGCCCTGAATCCTTGGGTAAGGGTCCCGGGGT	0.584													-	17644517	TCCTTGGGTAAGGG	-	17644504	8	5	139	1	0	1	0	1	0	0	1	0	5438	1435	50	0	532	0	FAM129C	19	17644504	Splice_Site	DEL	TCCTTGGGTAAGGG	TCGA-CD-5804-01A-12D-2053-08	1654788	17644504	41484479	84	79607											
UNC13A	23025	broad.mit.edu	37	chr19	17751464	17751464	+	Frame_Shift_Del	DEL	A	A	-													tacttggaggagaggcaggcAaagtggctggagagagggag							TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr19:17751464delA	uc002nhd.2	-	22	2907	c.2907delT	c.(2905-2907)TTTfs	p.F969fs		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	881					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						AGAGGCAGGCAAAGTGGCTGG	0.597													-	17751464	A	-	17751464	7	5	139	1	0	1	0	1	0	0	0	0	16981	127	5	0	2556	0	UNC13A	19	17751464	Frame_Shift_Del	DEL	A	TCGA-CD-5804-01A-12D-2053-08	106960	17751464	41377519	85	79608											
JAK3	3718	broad.mit.edu	37	chr19	17951134	17951134	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccccagtcttgagcttgtTgatggcaaagtccagactgt	11	11	1	3			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr19:17951134T>C	uc002nhn.3	-	9	1259	c.1159A>G	c.(1159-1161)AAC>GAC	p.N387D	JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.N387D|JAK3_uc010xpx.1_Missense_Mutation_p.N387D	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	387	SH2; atypical.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						TTGAGCTTGTTGATGGCAAAG	0.567		2	Mis		acute megakaryocytic leukemia|								C	17951134	T	C	17951134	3	2	139	1	0	0	0	0	1	0	0	0	7939	1812	63	3	2279	3	JAK3	19	17951134	Missense_Mutation	SNP	T	TCGA-CD-5804-01A-12D-2053-08	199670	17951134	41177849	86	79609											
RYR1	6261	broad.mit.edu	37	chr19	38939333	38939333	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggatgtggagggcatgggCccccctgagatcaagtacgg	17	10	1	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr19:38939333C>T	uc002oit.2	+	11	1132	c.1002C>T	c.(1000-1002)GGC>GGT	p.G334G	RYR1_uc002oiu.2_Silent_p.G334G	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	334	Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGGCATGGGCCCCCCTGAGA	0.637													T	38939333	C	T	38939333	2	4	139	1	0	0	0	0	0	0	0	1	13768	726	26	2		2	RYR1	19	38939333	Silent	SNP	C	TCGA-CD-5804-01A-12D-2053-08	20988199	38939333	20189650	87	79610											
DHX34	9704	broad.mit.edu	37	chr19	47878931	47878931	+	Frame_Shift_Del	DEL	C	C	-													cgaggacagggctggcccagCccccccaggggccagtgatg							TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr19:47878931delC	uc010xyn.1	+	10	2614	c.2273delC	c.(2272-2274)GCCfs	p.A758fs	DHX34_uc010xyo.1_5'Flank	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	758						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCTGGCCCAGCCCCCCCAGGG	0.716													-	47878931	C	-	47878931	7	5	139	1	0	1	0	1	0	0	0	0	4507	739	26	0	2307	0	DHX34	19	47878931	Frame_Shift_Del	DEL	C	TCGA-CD-5804-01A-12D-2053-08	8939598	47878931	11250052	88	79611											
GLTSCR1	29998	broad.mit.edu	37	chr19	48184530	48184531	+	Frame_Shift_Ins	INS	-	-	T													ccctgcagatgttcctgcccINScaggtaagcagggcggggca							TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr19:48184530_48184531insT	uc002phh.3	+	6	2297_2298	c.2103_2104insT	c.(2101-2106)CCCCAGfs	p.P701fs	GLTSCR1_uc002phi.3_Frame_Shift_Ins_p.P459fs	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	701_702							protein binding			pancreas(3)	3		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		TGTTCCTGCCCCAGGTAAGCAG	0.668													T	48184531	-	T	48184530	7	5	139	1	0	1	1	0	0	0	0	0	6474	610	22	0	2117	0	GLTSCR1	19	48184530	Frame_Shift_Ins	INS	-	TCGA-CD-5804-01A-12D-2053-08	305599	48184530	10944453	89	79612											
SHANK1	50944	broad.mit.edu	37	chr19	51170296	51170296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatgggggtccccaggagCggcggaggccccctgggtca	19	12	1	0			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr19:51170296C>T	uc002psx.1	-	22	4940	c.4921G>A	c.(4921-4923)GCT>ACT	p.A1641T	SHANK1_uc002psw.1_Missense_Mutation_p.A1025T	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1641					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCCCCAGGAGCGGCGGAGGCC	0.741													T	51170296	C	T	51170296	3	4	139	1	0	0	0	0	1	0	0	0	14264	768	27	1	1572	1	SHANK1	19	51170296	Missense_Mutation	SNP	C	TCGA-CD-5804-01A-12D-2053-08	2985766	51170296	7958687	90	79613											
HAS1	3036	broad.mit.edu	37	chr19	52216778	52216778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccagtagcccacgtaggCgccggcccccgcggccaagt	12	19	0	0			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr19:52216778C>T	uc002pxo.1	-	5	1674	c.1639G>A	c.(1639-1641)GCC>ACC	p.A547T	HAS1_uc010epc.1_Missense_Mutation_p.A147T|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxn.1_Missense_Mutation_p.A554T|HAS1_uc002pxp.1_Missense_Mutation_p.A546T	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	547	Helical; Name=7; (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCCACGTAGGCGCCGGCCCCC	0.731													T	52216778	C	T	52216778	3	4	139	1	0	0	0	0	1	0	0	0	6961	768	27	1	101	1	HAS1	19	52216778	Missense_Mutation	SNP	C	TCGA-CD-5804-01A-12D-2053-08	1046482	52216778	6912205	91	79614											
ZNF808	388558	broad.mit.edu	37	chr19	53056403	53056403	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaggtcttgtcaacaggGcaaggcaatagagaagtgat	14	5	2	2			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr19:53056403G>A	uc010epq.1	+	5	411	c.234G>A	c.(232-234)GGG>GGA	p.G78G	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TGTCAACAGGGCAAGGCAATA	0.363													A	53056403	G	A	53056403	2	1	139	1	0	0	0	0	0	0	0	1	18170	1190	42	2		2	ZNF808	19	53056403	Silent	SNP	G	TCGA-CD-5804-01A-12D-2053-08	839625	53056403	6072580	92	79615											
BRSK1	84446	broad.mit.edu	37	chr19	55800942	55800942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggcccgaaagttcttcCgccagattgtgtctgcgctg	13	11	2	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr19:55800942C>T	uc002qkg.2	+	4	689	c.412C>T	c.(412-414)CGC>TGC	p.R138C	BRSK1_uc002qkf.2_Missense_Mutation_p.R154C	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	138	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AAAGTTCTTCCGCCAGATTGT	0.602													T	55800942	C	T	55800942	3	4	139	1	0	0	0	0	1	0	0	0	1523	652	23	1	426	1	BRSK1	19	55800942	Missense_Mutation	SNP	C	TCGA-CD-5804-01A-12D-2053-08	2744539	55800942	3328041	93	79616											
C20orf7	79133	broad.mit.edu	37	chr20	13775515	13775515	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaacagaaatacctactgTcagcgttttagctgatgaag	9	7	1	4			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr20:13775515T>C	uc002wom.2	+	5	440	c.407T>C	c.(406-408)GTC>GCC	p.V136A	C20orf7_uc002wol.1_Missense_Mutation_p.V136A|C20orf7_uc002won.2_Intron|C20orf7_uc002woo.2_RNA	NM_024120	NP_077025	Q5TEU4	CT007_HUMAN	hypothetical protein LOC79133 isoform 1	136					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity				0		Myeloproliferative disorder(85;0.00878)				ATACCTACTGTCAGCGTTTTA	0.323													C	13775515	T	C	13775515	3	2	139	1	0	0	0	0	1	0	0	0	2115	1667	58	3	445	3	C20orf7	20	13775515	Missense_Mutation	SNP	T	TCGA-CD-5804-01A-12D-2053-08		13775515	49250005	94	79617											
CBFA2T2	9139	broad.mit.edu	37	chr20	32232209	32232209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtggctgcaatatcgcGcgatactgtggctctttctg	12	10	2	0	rs150139351	byFrequency	TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr20:32232209G>A	uc002wzg.1	+	12	2109	c.1572G>A	c.(1570-1572)GCG>GCA	p.A524A	CBFA2T2_uc010zug.1_Silent_p.A298A|CBFA2T2_uc002wze.1_Silent_p.A515A|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.A495A|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA|CBFA2T2_uc002wzk.1_Silent_p.A72A	NM_005093	NP_005084	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit	524	MYND-type.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)|skin(1)	2						GCAATATCGCGCGATACTGTG	0.617													A	32232209	G	A	32232209	2	1	139	1	0	0	0	0	0	0	0	1	2697	1074	38	1		1	CBFA2T2	20	32232209	Silent	SNP	G	TCGA-CD-5804-01A-12D-2053-08	18456694	32232209	30793311	95	79618											
BMP7	655	broad.mit.edu	37	chr20	55748277	55748277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtctgcacgatggcgtgGttggtggcgttcatgtagga	17	7	2	0			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr20:55748277G>A	uc010gip.1	-	6	1654	c.1125C>T	c.(1123-1125)AAC>AAT	p.N375N	BMP7_uc010giq.1_Silent_p.N309N|BMP7_uc002xyc.2_Silent_p.N375N	NM_001719	NP_001710	P18075	BMP7_HUMAN	bone morphogenetic protein 7 precursor	375					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			skin(1)	1	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CGATGGCGTGGTTGGTGGCGT	0.642													A	55748277	G	A	55748277	2	1	139	1	0	0	0	0	0	0	0	1	1465	1252	44	4		4	BMP7	20	55748277	Silent	SNP	G	TCGA-CD-5804-01A-12D-2053-08	23516068	55748277	7277243	96	79619											
FBXO7	25793	broad.mit.edu	37	chr22	32881120	32881120	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcggggtgtataagctgcaGtacatgcatcctctctgcga	12	10	1	0			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr22:32881120G>T	uc003amq.2	+	4	994	c.711G>T	c.(709-711)CAG>CAT	p.Q237H	FBXO7_uc003amp.1_Missense_Mutation_p.Q123H|FBXO7_uc003amr.2_Missense_Mutation_p.Q123H|FBXO7_uc003ams.2_Missense_Mutation_p.Q81H|FBXO7_uc003amt.2_Missense_Mutation_p.Q158H|FBXO7_uc003amu.2_Missense_Mutation_p.Q123H	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	F-box only protein 7 isoform 1	237					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)	1						ATAAGCTGCAGTACATGCATC	0.493													T	32881120	G	T	32881120	3	4	139	1	0	0	0	0	1	0	0	0	5760	1020	36	5	766	5	FBXO7	22	32881120	Missense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08		32881120	18423446	97	79620											
ZC3H7B	23264	broad.mit.edu	37	chr22	41752693	41752693	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcaagaacagcaacagcaaGaagcagtggcagcagcacat	12	10	0	2			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr22:41752693G>A	uc003azw.2	+	22	2778	c.2562G>A	c.(2560-2562)AAG>AAA	p.K854K	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	870	C2H2-type.				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						GCAACAGCAAGAAGCAGTGGC	0.637													A	41752693	G	A	41752693	2	1	139	1	0	0	0	0	0	0	0	1	17570	933	33	4		4	ZC3H7B	22	41752693	Silent	SNP	G	TCGA-CD-5804-01A-12D-2053-08	8871573	41752693	9551873	98	79621											
PANX2	56666	broad.mit.edu	37	chr22	50616142	50616142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggcatcaagacgcgccGgcagtggcgccgctcgcagt	17	13	1	1	rs139331786		TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr22:50616142G>A	uc003bjn.3	+	2	1001	c.1001G>A	c.(1000-1002)CGG>CAG	p.R334Q	PANX2_uc003bjp.3_Missense_Mutation_p.R200Q|PANX2_uc003bjo.3_Missense_Mutation_p.R334Q	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	334	Cytoplasmic (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		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)		AAGACGCGCCGGCAGTGGCGC	0.557													A	50616142	G	A	50616142	3	1	139	1	0	0	0	0	1	0	0	0	11421	1116	39	1	1007	1	PANX2	22	50616142	Missense_Mutation	SNP	G	TCGA-CD-5804-01A-12D-2053-08	8863449	50616142	688424	99	79622											
PLXNB2	23654	broad.mit.edu	37	chr22	50728614	50728614	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctccccgctgccgtcctcgtAgaacaggcggagggagatgt	14	13	0	2			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr22:50728614A>T	uc003bkv.3	-	3	506	c.400T>A	c.(400-402)TAC>AAC	p.Y134N		NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	134	Extracellular (Potential).|Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGTCCTCGTAGAACAGGCGG	0.662													T	50728614	A	T	50728614	3	4	139	1	0	0	0	0	1	0	0	0	12124	420	15	5	5256	5	PLXNB2	22	50728614	Missense_Mutation	SNP	A	TCGA-CD-5804-01A-12D-2053-08	112472	50728614	575952	100	79623											
PIGA	5277	broad.mit.edu	37	chrX	15342927	15342956	+	In_Frame_Del	DEL	GCTCACATAAAATAATAAGGTTTTCTGGAA	GCTCACATAAAATAATAAGGTTTTCTGGAA	-													acacaaagattttactgaagGctcacataaaataataaggt							TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chrX:15342926_15342955GGCTCACATAAAATAATAAGGTTTTCTGGAA>G	uc004cwr.3	-	4	1136_1165	c.1020_1049TTCCAGAAAACCTTATTATTTTATGTGAGCC>C	c.(1018-1050)cttccagaaaaccttattattttatgtgagcct>ctCt	p.PENLIILCEP341del	PIGA_uc010neu.3_Intron|PIGA_uc010nev.3_In_Frame_Del_p.PENLIILCEP172del|PIGA_uc004cwq.3_In_Frame_Del_p.PENLIILCEP26del|PIGA_uc004cws.3_In_Frame_Del_p.PENLIILCEP26del|PIGA_uc011miq.2_In_Frame_Del_p.PENLIILCEP107del	NM_002641	NP_002632	P37287	PIGA_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class A (PIGA), transcript variant 1, mRNA.	341					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding	p.I346V(2)		endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					TTTTACTGAAGGCTCACATAAAATAATAAGGTTTTCTGGAAGCACCTCAG	0.378													-	15342956	GCTCACATAAAATAATAAGGTTTTCTGGAA	-	15342927	7	5	139	1	0	1	0	1	0	0	0	0	11884	1203	42	0	414	0	PIGA	23	15342927	In_Frame_Del	DEL	GCTCACATAAAATAATAAGGTTTTCTGGAA	TCGA-CD-5804-01A-12D-2053-08		15342927	139927633	101	79624											
MAP3K15	389840	broad.mit.edu	37	chrX	19390935	19390935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcttccaaggctgagctctCgtctggaacactgtggacaa	11	11	3	1			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chrX:19390935C>T	uc004czk.1	-	23	3006	c.1369G>A	c.(1369-1371)GAG>AAG	p.E457K	MAP3K15_uc004czj.1_Missense_Mutation_p.E417K|MAP3K15_uc004czi.1_5'UTR	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	982							ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)					GCTGAGCTCTCGTCTGGAACA	0.622													T	19390935	C	T	19390935	3	4	139	1	0	0	0	0	1	0	0	0	9249	893	31	1	1029	1	MAP3K15	23	19390935	Missense_Mutation	SNP	C	TCGA-CD-5804-01A-12D-2053-08	4048008	19390935	135879625	102	79625											
DIAPH2	1730	broad.mit.edu	37	chrX	96136668	96136668	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtatatcagatgagaaacttCttaattgcctagaatccctc	6	9	2	3			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chrX:96136668C>A	uc004efu.3	+	5	934	c.538C>A	c.(538-540)CTT>ATT	p.L180I	DIAPH2_uc004eft.3_Missense_Mutation_p.L180I|DIAPH2_uc004efs.2_Missense_Mutation_p.L187I|RPA4_uc004efv.3_5'Flank	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	180	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						TGAGAAACTTCTTAATTGCCT	0.378													A	96136668	C	A	96136668	3	1	139	1	0	0	0	0	1	0	0	0	4519	913	32	5	556	5	DIAPH2	23	96136668	Missense_Mutation	SNP	C	TCGA-CD-5804-01A-12D-2053-08	76745733	96136668	59133892	103	79626											
CAMTA1	23261	broad.mit.edu	37	chr1	7805036	7805036	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtacaatgagctggctggccAgttatctagcggatgctgac	13	9	1	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:7805036A>T	uc001aoi.2	+	17	4531	c.4324A>T	c.(4324-4326)AGT>TGT	p.S1442C	CAMTA1_uc010nzv.1_Missense_Mutation_p.S529C|CAMTA1_uc001aok.3_Missense_Mutation_p.S485C|CAMTA1_uc001aoj.2_Missense_Mutation_p.S398C|CAMTA1_uc009vmf.2_Missense_Mutation_p.S46C	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTGGCTGGCCAGTTATCTAGC	0.517													T	7805036	A	T	7805036	3	4	140	1	0	0	0	0	1	0	0	0	2613	188	7	5	4390	5	CAMTA1	1	7805036	Missense_Mutation	SNP	A	TCGA-CD-5813-01A-11D-1600-08		7805036	241445585	1	79627											
VPS13D	55187	broad.mit.edu	37	chr1	12336690	12336690	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgcagacatatggtgctgaTtttgaccttttgatggcttc	10	7	0	4			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:12336690T>A	uc001atv.2	+	19	3186	c.3045T>A	c.(3043-3045)GAT>GAA	p.D1015E	VPS13D_uc001atw.2_Missense_Mutation_p.D1015E|VPS13D_uc001atx.2_Missense_Mutation_p.D203E	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1015					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATGGTGCTGATTTTGACCTTT	0.478											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	12336690	T	A	12336690	3	1	140	1	0	0	0	0	1	0	0	0	17189	1490	52	5	3115	5	VPS13D	1	12336690	Missense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08	4531654	12336690	236913931	2	79628											
HP1BP3	50809	broad.mit.edu	37	chr1	21072091	21072091	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcttctgatgactcatcttCatcttcatcctcatctctag	3	13	9	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:21072091C>T	uc001bdw.1	-	12	1452	c.1312G>A	c.(1312-1314)GAA>AAA	p.E438K	HP1BP3_uc001bdv.1_Missense_Mutation_p.E400K|HP1BP3_uc010odh.1_Missense_Mutation_p.E400K|HP1BP3_uc001bdy.1_Missense_Mutation_p.E438K|HP1BP3_uc010odf.1_Missense_Mutation_p.E97K|HP1BP3_uc010odg.1_Missense_Mutation_p.E286K	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	HP1-BP74	438					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|skin(1)	2		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GACTCATCTTCATCTTCATCC	0.438													T	21072091	C	T	21072091	3	4	140	1	0	0	0	0	1	0	0	0	7328	835	29	4	357	4	HP1BP3	1	21072091	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	8735401	21072091	228178530	3	79629											
HSPG2	3339	broad.mit.edu	37	chr1	22203131	22203131	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacattcattgcacaagcgCcccaccacattgttctgcag	7	15	2	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:22203131C>A	uc001bfj.2	-	22	2740	c.2700G>T	c.(2698-2700)GGG>GGT	p.G900G	HSPG2_uc009vqd.2_Silent_p.G901G	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	900	Laminin EGF-like 4; truncated.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGCACAAGCGCCCCACCACAT	0.582													A	22203131	C	A	22203131	2	1	140	1	0	0	0	0	0	0	0	1	7430	726	26	5		5	HSPG2	1	22203131	Silent	SNP	C	TCGA-CD-5813-01A-11D-1600-08	1131040	22203131	227047490	4	79630											
LUZP1	7798	broad.mit.edu	37	chr1	23419314	23419314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctttactgtgctcctgagCagccggggggtagcgactca	14	12	1	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:23419314C>T	uc001bgk.2	-	4	1825	c.1441G>A	c.(1441-1443)GCT>ACT	p.A481T	LUZP1_uc010odv.1_Missense_Mutation_p.A481T|LUZP1_uc001bgl.2_Missense_Mutation_p.A481T|LUZP1_uc001bgm.1_Missense_Mutation_p.A481T	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	481						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TGCTCCTGAGCAGCCGGGGGG	0.567													T	23419314	C	T	23419314	3	4	140	1	0	0	0	0	1	0	0	0	9086	710	25	2	1797	2	LUZP1	1	23419314	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	1216183	23419314	225831307	5	79631											
EIF3I	8668	broad.mit.edu	37	chr1	32694410	32694410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgccctctcccccaactAtgaccatgtaagagaacccc	6	17	1	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:32694410A>G	uc001bur.3	+	9	1255	c.722A>G	c.(721-723)TAT>TGT	p.Y241C	EIF3I_uc009vuc.2_Missense_Mutation_p.Y241C|EIF3I_uc001bus.2_Missense_Mutation_p.Y193C	NM_003757	NP_003748	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3,	241						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				TCCCCCAACTATGACCATGTA	0.517													G	32694410	A	G	32694410	3	3	140	1	0	0	0	0	1	0	0	0	5019	449	16	3	752	3	EIF3I	1	32694410	Missense_Mutation	SNP	A	TCGA-CD-5813-01A-11D-1600-08	9275096	32694410	216556211	6	79632											
ZFYVE9	9372	broad.mit.edu	37	chr1	52734219	52734219	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgatgcagccaaattaaCaatgaatggaacttcctctg	8	9	1	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:52734219C>A	uc001cto.2	+	7	2712	c.2540C>A	c.(2539-2541)ACA>AAA	p.T847K	ZFYVE9_uc001ctp.2_Missense_Mutation_p.T788K	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	847					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						GCCAAATTAACAATGAATGGA	0.507													A	52734219	C	A	52734219	3	1	140	1	0	0	0	0	1	0	0	0	17668	478	17	5	2569	5	ZFYVE9	1	52734219	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	20039809	52734219	196516402	7	79633											
LRRC7	57554	broad.mit.edu	37	chr1	70504992	70504992	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctccctggtgagcgccacagAaatggccatgtttagaaggg	13	10	0	3			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:70504992A>T	uc001dep.2	+	19	3401	c.3371A>T	c.(3370-3372)GAA>GTA	p.E1124V	LRRC7_uc009wbg.2_Missense_Mutation_p.E408V|LRRC7_uc001deq.2_Missense_Mutation_p.E365V	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1124						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						AGCGCCACAGAAATGGCCATG	0.592													T	70504992	A	T	70504992	3	4	140	1	0	0	0	0	1	0	0	0	9020	246	9	5	3445	5	LRRC7	1	70504992	Missense_Mutation	SNP	A	TCGA-CD-5813-01A-11D-1600-08	17770773	70504992	178745629	8	79634											
CD2	914	broad.mit.edu	37	chr1	117297531	117297531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcaatatatgatacaaaaGgaaaaaatgtgttggaaaaa	7	2	1	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:117297531G>A	uc001egu.3	+	2	369	c.340G>A	c.(340-342)GGA>AGA	p.G114R	CD2_uc010owz.1_Missense_Mutation_p.G114R|CD2_uc010oxa.1_Missense_Mutation_p.G114R	NM_001767	NP_001758	P06729	CD2_HUMAN	CD2 molecule precursor	114	Extracellular (Potential).|LFA-3 (CD58) binding region 2.|Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			breast(1)	1	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	TGATACAAAAGGAAAAAATGT	0.308													A	117297531	G	A	117297531	3	1	140	1	0	0	0	0	1	0	0	0	2979	1001	35	4	346	4	CD2	1	117297531	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	46792539	117297531	131953090	9	79635											
ANXA9	8416	broad.mit.edu	37	chr1	150955588	150955588	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caaccagtagcaccatgtctGtgactggcgggaagatggca	13	10	1	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:150955588G>C	uc001ewa.2	+	3	477	c.7G>C	c.(7-9)GTG>CTG	p.V3L		NM_003568	NP_003559	O76027	ANXA9_HUMAN	annexin A9	3					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity				0	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACCATGTCTGTGACTGGCGG	0.592													C	150955588	G	C	150955588	3	2	140	1	0	0	0	0	1	0	0	0	725	1377	48	5	9	5	ANXA9	1	150955588	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	33658057	150955588	98295033	10	79636											
ZNF687	57592	broad.mit.edu	37	chr1	151260227	151260227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggccaagtacagggggcgGcacagtgatatcacggaccc	15	11	1	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:151260227G>A	uc001exq.2	+	2	1558	c.1460G>A	c.(1459-1461)GGC>GAC	p.G487D	ZNF687_uc001exp.1_Missense_Mutation_p.G496D|ZNF687_uc009wmo.2_Missense_Mutation_p.G487D|ZNF687_uc009wmp.2_Missense_Mutation_p.G487D	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACAGGGGGCGGCACAGTGATA	0.602													A	151260227	G	A	151260227	3	1	140	1	0	0	0	0	1	0	0	0	18089	1203	42	2	1462	2	ZNF687	1	151260227	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	304639	151260227	97990394	11	79637											
HRNR	388697	broad.mit.edu	37	chr1	152187485	152187485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggccacggctggaagaaCgacctgagccagacccatgt	13	12	0	3			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:152187485C>T	uc001ezt.1	-	3	6696	c.6620G>A	c.(6619-6621)CGT>CAT	p.R2207H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2207	24.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGGAAGAACGACCTGAGCC	0.597													T	152187485	C	T	152187485	3	4	140	1	0	0	0	0	1	0	0	0	7359	536	19	1	1936	1	HRNR	1	152187485	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	927258	152187485	97063136	12	79638											
FLG	2312	broad.mit.edu	37	chr1	152281606	152281606	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgactgtcactgtcctggCtaacactggatccctggttc	9	14	1	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:152281606C>A	uc001ezu.1	-	3	5792	c.5756G>T	c.(5755-5757)AGC>ATC	p.S1919I		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1919	Ser-rich.|Filaggrin 11.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGTCCTGGCTAACACTGGA	0.562									Ichthyosis				A	152281606	C	A	152281606	3	1	140	1	0	0	0	0	1	0	0	0	5922	797	28	5	6433	5	FLG	1	152281606	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	94121	152281606	96969015	13	79639											
SEMA4A	64218	broad.mit.edu	37	chr1	156128511	156128511	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcctctctccccatttaggAacttcaagattcctacctgt	5	14	2	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:156128511A>T	uc001fnl.2	+	6	568	c.464A>T	c.(463-465)GAA>GTA	p.E155V	SEMA4A_uc009wrq.2_Missense_Mutation_p.E155V|SEMA4A_uc001fnm.2_Missense_Mutation_p.E155V|SEMA4A_uc001fnn.2_Missense_Mutation_p.E23V|SEMA4A_uc001fno.2_Missense_Mutation_p.E155V	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	155	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					CCCATTTAGGAACTTCAAGAT	0.542													T	156128511	A	T	156128511	3	4	140	1	0	0	0	0	1	0	0	0	14031	260	9	5	482	5	SEMA4A	1	156128511	Missense_Mutation	SNP	A	TCGA-CD-5813-01A-11D-1600-08	3846905	156128511	93122110	14	79640											
MEF2D	4209	broad.mit.edu	37	chr1	156452386	156452386	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcacatagcacgctcagcTcatacgccttcttcatcagg	7	14	6	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:156452386T>G	uc001fpc.2	-	3	491	c.101A>C	c.(100-102)GAG>GCG	p.E34A	MEF2D_uc001fpb.2_Missense_Mutation_p.E34A|MEF2D_uc001fpd.2_Missense_Mutation_p.E34A|MEF2D_uc001fpe.1_Missense_Mutation_p.E34A|MEF2D_uc009wsa.2_RNA	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	34	MADS-box.				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACGCTCAGCTCATACGCCTT	0.547													G	156452386	T	G	156452386	3	3	140	1	0	0	0	0	1	0	0	0	9458	1551	54	5	1504	5	MEF2D	1	156452386	Missense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08	323875	156452386	92798235	15	79641											
SPTA1	6708	broad.mit.edu	37	chr1	158621190	158621190	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctccttctggtgttagaagTccttcaaatagtagatcatc	8	9	3	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:158621190T>C	uc001fst.1	-	24	3643	c.3444A>G	c.(3442-3444)GGA>GGG	p.G1148G		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1148	Spectrin 11.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GTGTTAGAAGTCCTTCAAATA	0.453													C	158621190	T	C	158621190	2	2	140	1	0	0	0	0	0	0	0	1	15115	1654	58	3		3	SPTA1	1	158621190	Silent	SNP	T	TCGA-CD-5813-01A-11D-1600-08	2168804	158621190	90629431	16	79642											
PBX1	5087	broad.mit.edu	37	chr1	164815824	164815824	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctttttcccttctaggctAatggaggttggcaggatgct	11	10	1	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:164815824A>G	uc001gct.2	+	9	1462	c.1204A>G	c.(1204-1206)AAT>GAT	p.N402D	PBX1_uc010pku.1_Intron|PBX1_uc010pkv.1_Missense_Mutation_p.N319D|PBX1_uc001gcs.2_3'UTR|PBX1_uc010pkw.1_Intron	NM_002585	NP_002576	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	402					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	soft_tissue(3)|lung(1)|skin(1)	5						CTTCTAGGCTAATGGAGGTTG	0.438			T	TCF3|EWSR1	pre B-ALL|myoepithelioma								G	164815824	A	G	164815824	3	3	140	1	0	0	0	0	1	0	0	0	11492	362	13	3	1238	3	PBX1	1	164815824	Missense_Mutation	SNP	A	TCGA-CD-5813-01A-11D-1600-08	6194634	164815824	84434797	17	79643											
HMCN1	83872	broad.mit.edu	37	chr1	186092230	186092230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggaatctatccgccagcGcgtcctcagctctggctctc	10	15	4	0	rs141573564	by1000genomes	TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:186092230G>A	uc001grq.1	+	81	12606	c.12377G>A	c.(12376-12378)CGC>CAC	p.R4126H		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4126	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ATCCGCCAGCGCGTCCTCAGC	0.537													A	186092230	G	A	186092230	3	1	140	1	0	0	0	0	1	0	0	0	7220	1087	38	1	12699	1	HMCN1	1	186092230	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	21276406	186092230	63158391	18	79644											
ELF3	1999	broad.mit.edu	37	chr1	201981493	201981501	+	In_Frame_Del	DEL	TCAGTTGGA	TCAGTTGGA	-													ttccagctcttctgatgagcTcagttggatcattgagctgc							TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:201981492_201981500CTCAGTTGGA>C	uc001gxg.4	+	2	3598_3606	c.406_414CTCAGTTGGA>C	c.(406-414)ctcagttgg>C	p.LSW136del	ELF3_uc001gxi.4_In_Frame_Del_p.LSW136del|ELF3_uc001gxh.4_In_Frame_Del_p.LSW136del	NM_004433	NP_004424	P78545	ELF3_HUMAN	Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA.	136					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TTCTGATGAGCTCAGTTGGATCATTGAGC	0.579													-	201981501	TCAGTTGGA	-	201981493	7	5	140	1	0	1	0	1	0	0	0	0	5055	1551	54	0	417	0	ELF3	1	201981493	In_Frame_Del	DEL	TCAGTTGGA	TCGA-CD-5813-01A-11D-1600-08	15889263	201981493	47269128	19	79645											
REN	5972	broad.mit.edu	37	chr1	204125386	204125386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgagatgtaggatgcacCggtgtctaccaatgccaggc	12	11	1	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:204125386C>T	uc001haq.2	-	8	924	c.880G>A	c.(880-882)GGT>AGT	p.G294S		NM_000537	NP_000528	P00797	RENI_HUMAN	renin preproprotein	294					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			skin(3)|central_nervous_system(1)	4	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TAGGATGCACCGGTGTCTACC	0.483													T	204125386	C	T	204125386	3	4	140	1	0	0	0	0	1	0	0	0	13224	652	23	1	352	1	REN	1	204125386	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	2143893	204125386	45125235	20	79646											
TMCC2	9911	broad.mit.edu	37	chr1	205210799	205210799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccagatgagaaggagcGctctccggagatgcatcgcg	13	13	1	3			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:205210799G>A	uc001hbz.1	+	3	818	c.374G>A	c.(373-375)CGC>CAC	p.R125H	TMCC2_uc010prf.1_Missense_Mutation_p.R47H	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	125						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GAGAAGGAGCGCTCTCCGGAG	0.652													A	205210799	G	A	205210799	3	1	140	1	0	0	0	0	1	0	0	0	15990	1087	38	1	380	1	TMCC2	1	205210799	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	1085413	205210799	44039822	21	79647											
CAPN2	824	broad.mit.edu	37	chr1	223958166	223958166	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaaaatttaccgagaaatCgacgttgacaggtctggtac	10	8	1	3			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:223958166C>T	uc001hob.3	+	18	2066	c.1842C>T	c.(1840-1842)ATC>ATT	p.I614I	CAPN2_uc010puy.1_Silent_p.I536I|CAPN2_uc001hoc.2_Silent_p.I195I	NM_001748	NP_001739	P17655	CAN2_HUMAN	calpain 2 isoform 1	614	Domain IV.|EF-hand 2.				proteolysis	cytoplasm|plasma membrane				lung(3)|breast(1)|skin(1)	5				GBM - Glioblastoma multiforme(131;0.109)		ACCGAGAAATCGACGTTGACA	0.418													T	223958166	C	T	223958166	2	4	140	1	0	0	0	0	0	0	0	1	2627	874	31	1		1	CAPN2	1	223958166	Silent	SNP	C	TCGA-CD-5813-01A-11D-1600-08	18747367	223958166	25292455	22	79648											
KIAA1804	84451	broad.mit.edu	37	chr1	233511747	233511748	+	Frame_Shift_Ins	INS	-	-	A													atgtaaaaaggaattttaagINSaaaaaaggttgtacctgggg							TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:233511747_233511748insA	uc001hvt.3	+	7	2022_2023	c.1761_1762insA	c.(1759-1764)AAGAAAfs	p.K587fs	KIAA1804_uc001hvu.3_Frame_Shift_Ins_p.K33fs	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	587_588					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GGAATTTTAAGAAAAAAGGTTG	0.351													A	233511748	-	A	233511747	7	5	140	1	0	1	1	0	0	0	0	0	8259	933	33	0	1787	0	KIAA1804	1	233511747	Frame_Shift_Ins	INS	-	TCGA-CD-5813-01A-11D-1600-08	9553581	233511747	15738874	23	79649	395	2									
KIAA1804	84451	broad.mit.edu	37	chr1	233511748	233511749	+	Frame_Shift_Ins	INS	-	-	A													tgtaaaaaggaattttaagaINSaaaaaggttgtacctgggga							TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:233511747_233511748G>GA	uc001hvt.4	+	6	2022_2023	c.1761_1762G>GA	c.(1759-1764)aagaaafs	p.K587fs	KIAA1804_uc001hvu.4_Frame_Shift_Ins_p.K33fs	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	587					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GGAATTTTAAGAAAAAAGGTTG	0.351													A	233511749	-	A	233511748	7	5	140	1	0	1	1	0	0	0	0	0	8259	247	9	0	1788	0	KIAA1804	1	233511748	Frame_Shift_Ins	INS	-	TCGA-CD-5813-01A-11D-1600-08	1	233511748	15738873	24	79650	395	2									
KCNK1	3775	broad.mit.edu	37	chr1	233802387	233802387	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggaggtaaggccttctgCatcatctactccgtcattgg	11	10	4	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:233802387C>T	uc010pxo.1	+	2	570	c.402C>T	c.(400-402)TGC>TGT	p.C134C	KCNK1_uc001hvw.2_RNA|KCNK1_uc001hvx.2_RNA	NM_002245	NP_002236	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	134	Helical; (Potential).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			central_nervous_system(1)	1		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	AGGCCTTCTGCATCATCTACT	0.567													T	233802387	C	T	233802387	2	4	140	1	0	0	0	0	0	0	0	1	8058	718	25	2		2	KCNK1	1	233802387	Silent	SNP	C	TCGA-CD-5813-01A-11D-1600-08	290639	233802387	15448234	25	79651											
NLRP3	114548	broad.mit.edu	37	chr1	247587155	247587155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctttgccgtagattaccGtaagaagtacagaaagtacg	10	7	1	3	rs138946894	byFrequency	TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr1:247587155G>A	uc001icr.2	+	5	548	c.410G>A	c.(409-411)CGT>CAT	p.R137H	NLRP3_uc001ics.2_Missense_Mutation_p.R137H|NLRP3_uc001icu.2_Missense_Mutation_p.R137H|NLRP3_uc001icw.2_Missense_Mutation_p.R137H|NLRP3_uc001icv.2_Missense_Mutation_p.R137H|NLRP3_uc010pyw.1_Missense_Mutation_p.R135H|NLRP3_uc001ict.1_Missense_Mutation_p.R135H	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	137					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTAGATTACCGTAAGAAGTAC	0.507													A	247587155	G	A	247587155	3	1	140	1	0	0	0	0	1	0	0	0	10478	1145	40	1	420	1	NLRP3	1	247587155	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	13784768	247587155	1663466	26	79652											
ROCK2	9475	broad.mit.edu	37	chr2	11332458	11332458	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agaatttgctagtaataacaGattctttgccgttgaaatat	7	5	1	3			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr2:11332458G>C	uc002rbd.1	-	32	4428	c.3979C>G	c.(3979-3981)CTG>GTG	p.L1327V		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	1327	PH.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AGTAATAACAGATTCTTTGCC	0.358													C	11332458	G	C	11332458	3	2	140	1	0	0	0	0	1	0	0	0	13518	933	33	5	195	5	ROCK2	2	11332458	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08		11332458	231866915	27	79653											
AGBL5	60509	broad.mit.edu	37	chr2	27278683	27278683	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgaactcccagagttccTctgagcaccagcccagttcc	8	16	2	3			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr2:27278683T>C	uc002rie.2	+	7	1259	c.1042T>C	c.(1042-1044)TCT>CCT	p.S348P	AGBL5_uc002ric.2_Missense_Mutation_p.S348P|AGBL5_uc002rid.2_Missense_Mutation_p.S348P|AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	348					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGAGTTCCTCTGAGCACCA	0.557													C	27278683	T	C	27278683	3	2	140	1	0	0	0	0	1	0	0	0	378	1551	54	3	1064	3	AGBL5	2	27278683	Missense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08	15946225	27278683	215920690	28	79654											
ALK	238	broad.mit.edu	37	chr2	29416542	29416542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcacgtgtcccccttccaCggccggccctctagggactc	9	18	2	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr2:29416542C>T	uc002rmy.2	-	29	5318	c.4411G>A	c.(4411-4413)GTG>ATG	p.V1471M	ALK_uc010ymo.1_Missense_Mutation_p.V403M	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	1471	Cytoplasmic (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.V1471fs*45(1)	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCCCCTTCCACGGCCGGCCCT	0.587			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				T	29416542	C	T	29416542	3	4	140	1	0	0	0	0	1	0	0	0	525	536	19	1	455	1	ALK	2	29416542	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	2137859	29416542	213782831	29	79655											
QPCT	25797	broad.mit.edu	37	chr2	37580008	37580008	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccagtatctctgaaatgtGgcaaaatgacttacagccat	7	10	1	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr2:37580008G>T	uc002rqg.2	+	2	319	c.197G>T	c.(196-198)TGG>TTG	p.W66L	QPCT_uc002rqh.2_Intron	NM_012413	NP_036545	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase precursor	66					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)	1		Ovarian(717;0.051)|all_hematologic(82;0.21)				TCTGAAATGTGGCAAAATGAC	0.463													T	37580008	G	T	37580008	3	4	140	1	0	0	0	0	1	0	0	0	12874	1357	47	5	203	5	QPCT	2	37580008	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	8163466	37580008	205619365	30	79656											
PRKCE	5581	broad.mit.edu	37	chr2	46386767	46386767	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgacgaagaatccccacaAgcgcctgggctgtgtggcat	12	12	0	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr2:46386767A>C	uc002rut.2	+	14	2140	c.1943A>C	c.(1942-1944)AAG>ACG	p.K648T		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	648	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			AATCCCCACAAGCGCCTGGGC	0.547													C	46386767	A	C	46386767	3	2	140	1	0	0	0	0	1	0	0	0	12511	72	3	5	1997	5	PRKCE	2	46386767	Missense_Mutation	SNP	A	TCGA-CD-5813-01A-11D-1600-08	8806759	46386767	196812606	31	79657											
CALM2	805	broad.mit.edu	37	chr2	47388867	47388867	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgaaacatttaccttcaTagtttacttgaccatcacca	4	11	2	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr2:47388867T>C	uc002rvt.2	-	5	574	c.416A>G	c.(415-417)TAT>TGT	p.Y139C	C2orf61_uc010fbd.2_Intron|CALM2_uc010fbe.2_RNA	NM_001743	NP_001734	P62158	CALM_HUMAN	calmodulin 2	139	4.|EF-hand 4.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	p.0?(2)			0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	TTTACCTTCATAGTTTACTTG	0.398													C	47388867	T	C	47388867	3	2	140	1	0	0	0	0	1	0	0	0	2585	1406	49	3	41	3	CALM2	2	47388867	Missense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08	1002100	47388867	195810506	32	79658											
GTDC1	79712	broad.mit.edu	37	chr2	144966261	144966261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgcaggaagggtataaaCgacacagtctcctaactctt	8	10	2	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr2:144966261C>T	uc002tvp.2	-	4	367	c.88G>A	c.(88-90)GTT>ATT	p.V30I	GTDC1_uc002tvo.2_Missense_Mutation_p.V30I|GTDC1_uc002tvq.2_Missense_Mutation_p.V30I|GTDC1_uc002tvr.2_Missense_Mutation_p.V30I|GTDC1_uc010fnn.2_Missense_Mutation_p.V30I|GTDC1_uc002tvs.2_5'UTR|GTDC1_uc010fno.2_Intron|GTDC1_uc002tvt.1_Missense_Mutation_p.V30I	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	30					biosynthetic process		transferase activity, transferring glycosyl groups			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0914)		AGGGTATAAACGACACAGTCT	0.433													T	144966261	C	T	144966261	3	4	140	1	0	0	0	0	1	0	0	0	6851	536	19	1	1324	1	GTDC1	2	144966261	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	97577394	144966261	98233112	33	79659											
PHOSPHO2	493911	broad.mit.edu	37	chr2	170557915	170557915	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatcatactcattcttgcaAtagatgcccaaagaatcttt	4	9	4	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr2:170557915A>G	uc002ufg.2	+	4	822	c.434A>G	c.(433-435)AAT>AGT	p.N145S	KLHL23_uc002ufh.1_Intron	NM_001008489	NP_001008489	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	145							metal ion binding|pyridoxal phosphatase activity			skin(1)	1						CATTCTTGCAATAGATGCCCA	0.313													G	170557915	A	G	170557915	3	3	140	1	0	0	0	0	1	0	0	0	11857	101	4	3	436	3	PHOSPHO2	2	170557915	Missense_Mutation	SNP	A	TCGA-CD-5813-01A-11D-1600-08	25591654	170557915	72641458	34	79660											
TTN	7273	broad.mit.edu	37	chr2	179395102	179395102	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tggttttgaggaaattggttCaggagcttttggttcagttt	13	3	2	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr2:179395102C>G	uc010zfg.1	-	307	98760	c.98536G>C	c.(98536-98538)GAA>CAA	p.E32846Q	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E26541Q|TTN_uc010zfi.1_Missense_Mutation_p.E26474Q|TTN_uc010zfj.1_Missense_Mutation_p.E26349Q|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33773							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAATTGGTTCAGGAGCTTTT	0.383													G	179395102	C	G	179395102	3	3	140	1	0	0	0	0	1	0	0	0	16732	835	29	5	1759	5	TTN	2	179395102	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	8837187	179395102	63804271	35	79661											
TTN	7273	broad.mit.edu	37	chr2	179411375	179411375	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtagattcagaccctttgcTaattacgcctgctgcattct	7	11	2	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr2:179411375T>G	uc010zfg.1	-	290	87300	c.87076A>C	c.(87076-87078)AGC>CGC	p.S29026R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S22721R|TTN_uc010zfi.1_Missense_Mutation_p.S22654R|TTN_uc010zfj.1_Missense_Mutation_p.S22529R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29953							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACCCTTTGCTAATTACGCCT	0.413													G	179411375	T	G	179411375	3	3	140	1	0	0	0	0	1	0	0	0	16732	1522	53	5	13287	5	TTN	2	179411375	Missense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08	16273	179411375	63787998	36	79662											
HIBCH	26275	broad.mit.edu	37	chr2	191069954	191069954	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggactctggtctttatcaatTaaaactgtcaagagaagata	8	6	4	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr2:191069954T>C	uc002uru.2	-	14	1133	c.1050A>G	c.(1048-1050)TTA>TTG	p.L350L	HIBCH_uc002urv.2_Silent_p.*339*	NM_014362	NP_055177	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-Coenzyme A hydrolase isoform	350					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CTTTATCAATTAAAACTGTCA	0.308													C	191069954	T	C	191069954	2	2	140	1	0	0	0	0	0	0	0	1	7100	1761	61	3		3	HIBCH	2	191069954	Silent	SNP	T	TCGA-CD-5813-01A-11D-1600-08	11658579	191069954	52129419	37	79663											
HECW2	57520	broad.mit.edu	37	chr2	197172769	197172769	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctgtttacgtgatccacGtagaagatcctgccgtggct	11	10	1	3	rs141027520		TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr2:197172769G>A	uc002utm.1	-	11	2658	c.2475C>T	c.(2473-2475)TAC>TAT	p.Y825Y	HECW2_uc002utl.1_Silent_p.Y469Y	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	825	Interaction with TP73.|WW 1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						CGTGATCCACGTAGAAGATCC	0.552													A	197172769	G	A	197172769	2	1	140	1	0	0	0	0	0	0	0	1	7043	1140	40	1		1	HECW2	2	197172769	Silent	SNP	G	TCGA-CD-5813-01A-11D-1600-08	6102815	197172769	46026604	38	79664											
ERBB4	2066	broad.mit.edu	37	chr2	212295795	212295795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgccaaatcccgatgaaCgagtcgtctttcttccaggt	10	12	2	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr2:212295795C>T	uc002veg.1	-	21	2616	c.2518G>A	c.(2518-2520)GTT>ATT	p.V840I	ERBB4_uc002veh.1_Missense_Mutation_p.V840I|ERBB4_uc010zji.1_Missense_Mutation_p.V830I|ERBB4_uc010zjj.1_Missense_Mutation_p.V830I	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	840	Protein kinase.|Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TCCCGATGAACGAGTCGTCTT	0.393										TSP Lung(8;0.080)			T	212295795	C	T	212295795	3	4	140	1	0	0	0	0	1	0	0	0	5209	536	19	1	1440	1	ERBB4	2	212295795	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	15123026	212295795	30903578	39	79665											
ABCA12	26154	broad.mit.edu	37	chr2	215884365	215884365	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaagctggctgctatttcGgtgcccagctctgccgcttc	11	13	1	0	rs143605938		TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr2:215884365G>A	uc002vew.2	-	12	1663	c.1443C>T	c.(1441-1443)ACC>ACT	p.T481T	ABCA12_uc002vev.2_Silent_p.T163T|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	481					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGCTATTTCGGTGCCCAGCT	0.433													A	215884365	G	A	215884365	2	1	140	1	0	0	0	0	0	0	0	1	30	1103	39	1		1	ABCA12	2	215884365	Silent	SNP	G	TCGA-CD-5813-01A-11D-1600-08	3588570	215884365	27315008	40	79666											
SP100	6672	broad.mit.edu	37	chr2	231371119	231371119	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catccaagaactggaagctaAgtatacgctgcggtggatat	11	8	0	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr2:231371119A>C	uc002vqt.2	+	22	2113	c.1972A>C	c.(1972-1974)AGT>CGT	p.S658R	SP100_uc002vqs.2_Missense_Mutation_p.S658R|SP100_uc002vqu.1_Missense_Mutation_p.S658R|SP100_uc010fxp.1_5'UTR	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	658	SAND.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTGGAAGCTAAGTATACGCTG	0.448													C	231371119	A	C	231371119	3	2	140	1	0	0	0	0	1	0	0	0	14960	72	3	5	2058	5	SP100	2	231371119	Missense_Mutation	SNP	A	TCGA-CD-5813-01A-11D-1600-08	15486754	231371119	11828254	41	79667											
UGT1A5	54579	broad.mit.edu	37	chr2	234622228	234622228	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctatattcctagattActaacgaccaattcagacca	3	13	1	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr2:234622228A>G	uc002vuw.2	+	1	591	c.591A>G	c.(589-591)TTA>TTG	p.L197L	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Silent_p.L197L	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	197					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TTCCTAGATTACTAACGACCA	0.458													G	234622228	A	G	234622228	2	3	140	1	0	0	0	0	0	0	0	1	16945	388	14	3		3	UGT1A5	2	234622228	Silent	SNP	A	TCGA-CD-5813-01A-11D-1600-08	3251109	234622228	8577145	42	79668											
CNTN4	152330	broad.mit.edu	37	chr3	2861193	2861193	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgacaactttaaaacaagaAcaagaagcactgtgtctgtc	7	8	1	3			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr3:2861193A>G	uc003bpc.2	+	6	603	c.382A>G	c.(382-384)ACA>GCA	p.T128A	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.T128A	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	128	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TAAAACAAGAACAAGAAGCAC	0.408													G	2861193	A	G	2861193	3	3	140	1	0	0	0	0	1	0	0	0	3643	43	2	3	396	3	CNTN4	3	2861193	Missense_Mutation	SNP	A	TCGA-CD-5813-01A-11D-1600-08		2861193	195161237	43	79669											
KAT2B	8850	broad.mit.edu	37	chr3	20193869	20193869	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caagaataggtactacgtgtCtaagaaattattcatggcag	9	6	2	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr3:20193869C>G	uc003cbq.2	+	18	2797	c.2351C>G	c.(2350-2352)TCT>TGT	p.S784C		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	784	Bromo.				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TACTACGTGTCTAAGAAATTA	0.403													G	20193869	C	G	20193869	3	3	140	1	0	0	0	0	1	0	0	0	7982	913	32	5	2421	5	KAT2B	3	20193869	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	17332676	20193869	177828561	44	79670											
LAMB2	3913	broad.mit.edu	37	chr3	49162318	49162318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccacctggccttgatggGtccccaaagtgcccaggggc	14	15	0	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr3:49162318G>A	uc003cwe.2	-	21	3224	c.2925C>T	c.(2923-2925)GAC>GAT	p.D975D	LAMB2_uc003cwf.1_Silent_p.D975D	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	975	Laminin EGF-like 9.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCTTGATGGGTCCCCAAAGT	0.612													A	49162318	G	A	49162318	2	1	140	1	0	0	0	0	0	0	0	1	8611	1252	44	4		4	LAMB2	3	49162318	Silent	SNP	G	TCGA-CD-5813-01A-11D-1600-08	28968449	49162318	148860112	45	79671											
PBRM1	55193	broad.mit.edu	37	chr3	52613217	52613217	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggacatcttctttttccTgttgtaaagaaaactggctg	9	8	2	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr3:52613217T>G	uc003des.2	-	21	3400	c.3388_splice	c.e21-1	p.E1130_splice	PBRM1_uc003dex.2_Splice_Site|PBRM1_uc003deq.2_Splice_Site_p.E1130_splice|PBRM1_uc003der.2_Splice_Site_p.E1098_splice|PBRM1_uc003det.2_Splice_Site_p.E1145_splice|PBRM1_uc003deu.2_Splice_Site_p.E1145_splice|PBRM1_uc003dev.2_Splice_Site|PBRM1_uc003dew.2_Splice_Site_p.E1130_splice|PBRM1_uc010hmk.1_Splice_Site_p.E1105_splice|PBRM1_uc003dey.2_Splice_Site_p.E1105_splice|PBRM1_uc003dez.1_Splice_Site_p.E1129_splice	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4						chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTCTTTTTCCTGTTGTAAAGA	0.398			Mis|N|F|S|D|O		clear cell renal carcinoma|breast								G	52613217	T	G	52613217	5	3	140	1	0	0	0	0	0	0	1	0	11491	1594	55	5	1554	5	PBRM1	3	52613217	Splice_Site	SNP	T	TCGA-CD-5813-01A-11D-1600-08	3450899	52613217	145409213	46	79672											
CADPS	8618	broad.mit.edu	37	chr3	62739191	62739191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaacatctcatagagttgCtccttgctcagaatcagctc	8	11	3	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr3:62739191C>T	uc003dll.2	-	3	1173	c.813G>A	c.(811-813)GAG>GAA	p.E271E	CADPS_uc003dlm.2_Silent_p.E271E|CADPS_uc003dln.2_Silent_p.E271E	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	271					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CATAGAGTTGCTCCTTGCTCA	0.537													T	62739191	C	T	62739191	2	4	140	1	0	0	0	0	0	0	0	1	2570	796	28	2		2	CADPS	3	62739191	Silent	SNP	C	TCGA-CD-5813-01A-11D-1600-08	10125974	62739191	135283239	47	79673											
PRICKLE2	166336	broad.mit.edu	37	chr3	64133178	64133178	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgggactccttggcccTggcgttctggaaggcggaat	16	12	1	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr3:64133178T>C	uc003dmf.2	-	7	1574	c.988A>G	c.(988-990)AGG>GGG	p.R330G		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	330						cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TCCTTGGCCCTGGCGTTCTGG	0.582													C	64133178	T	C	64133178	3	2	140	1	0	0	0	0	1	0	0	0	12487	1579	55	3	1554	3	PRICKLE2	3	64133178	Missense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08	1393987	64133178	133889252	48	79674											
MAGI1	9223	broad.mit.edu	37	chr3	66023967	66023967	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagtccagtggttcttcttcTggatcactttggacatgatg	10	8	4	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr3:66023967T>A	uc003dmn.2	-	1	543	c.17A>T	c.(16-18)CAG>CTG	p.Q6L	MAGI1_uc003dmm.2_Missense_Mutation_p.Q6L|MAGI1_uc003dmo.2_Missense_Mutation_p.Q6L|MAGI1_uc003dmp.2_Missense_Mutation_p.Q6L|MAGI1_uc003dmr.2_Missense_Mutation_p.Q6L	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	6					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GTTCTTCTTCTGGATCACTTT	0.597													A	66023967	T	A	66023967	3	1	140	1	0	0	0	0	1	0	0	0	9190	1580	55	5	4697	5	MAGI1	3	66023967	Missense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08	1890789	66023967	131998463	49	79675											
CRYBG3	131544	broad.mit.edu	37	chr3	97596094	97596094	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtatgcttccgcagaagcaaGacaaacacagtctgtcttgt	9	10	2	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr3:97596094G>C	uc003drx.2	+	1	276	c.212G>C	c.(211-213)AGA>ACA	p.R71T		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						GCAGAAGCAAGACAAACACAG	0.423													C	97596094	G	C	97596094	3	2	140	1	0	0	0	0	1	0	0	0	3913	942	33	5	214	5	CRYBG3	3	97596094	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	31572127	97596094	100426336	50	79676											
EPHB1	2047	broad.mit.edu	37	chr3	134514496	134514496	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggccctggattatctactacTgctcctcctggcatccgcag	9	15	1	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr3:134514496T>A	uc003eqt.2	+	1	243	c.23T>A	c.(22-24)CTG>CAG	p.L8Q	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Missense_Mutation_p.L8Q	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	8						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						TATCTACTACTGCTCCTCCTG	0.697													A	134514496	T	A	134514496	3	1	140	1	0	0	0	0	1	0	0	0	5174	1580	55	5	25	5	EPHB1	3	134514496	Missense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08	36918402	134514496	63507934	51	79677											
EPHB1	2047	broad.mit.edu	37	chr3	134968251	134968251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggatgactggctcagcGccatcaaaatggtccagtac	11	12	2	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr3:134968251G>A	uc003eqt.2	+	15	2984	c.2764G>A	c.(2764-2766)GCC>ACC	p.A922T	EPHB1_uc003equ.2_Missense_Mutation_p.A483T	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	922	Cytoplasmic (Potential).|SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						CTGGCTCAGCGCCATCAAAAT	0.577													A	134968251	G	A	134968251	3	1	140	1	0	0	0	0	1	0	0	0	5174	1087	38	1	2822	1	EPHB1	3	134968251	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	453755	134968251	63054179	52	79678											
PPP2R3A	5523	broad.mit.edu	37	chr3	135801212	135801212	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aattctgggaactagatactGatcacgacctctacatcagc	7	11	4	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr3:135801212G>A	uc003eqv.1	+	8	3302	c.2737G>A	c.(2737-2739)GAT>AAT	p.D913N	PPP2R3A_uc011blz.1_Missense_Mutation_p.D177N|PPP2R3A_uc003eqw.1_Missense_Mutation_p.D292N|PPP2R3A_uc011bma.1_RNA	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	913					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						ACTAGATACTGATCACGACCT	0.358													A	135801212	G	A	135801212	3	1	140	1	0	0	0	0	1	0	0	0	12388	1290	45	4	2899	4	PPP2R3A	3	135801212	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	832961	135801212	62221218	53	79679											
STAG1	10274	broad.mit.edu	37	chr3	136062737	136062737	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgaatctggtctcccatgGgccgactgttctcccgcagt	10	14	3	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr3:136062737G>T	uc003era.1	-	30	3675	c.3383C>A	c.(3382-3384)CCC>CAC	p.P1128H	STAG1_uc003erb.1_Missense_Mutation_p.P1128H	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1128					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						GTCTCCCATGGGCCGACTGTT	0.468													T	136062737	G	T	136062737	3	4	140	1	0	0	0	0	1	0	0	0	15241	1232	43	5	413	5	STAG1	3	136062737	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	261525	136062737	61959693	54	79680											
REST	5978	broad.mit.edu	37	chr4	57797539	57797539	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggaaggagcaagtccttattGaagttggcttagtgcctgtt	13	6	0	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr4:57797539G>T	uc003hch.2	+	4	2862	c.2515G>T	c.(2515-2517)GAA>TAA	p.E839*	REST_uc003hci.2_Nonsense_Mutation_p.E839*|REST_uc010ihf.2_Nonsense_Mutation_p.E513*	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	839					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Glioma(25;0.08)|all_neural(26;0.181)					AGTCCTTATTGAAGTTGGCTT	0.438													T	57797539	G	T	57797539	4	4	140	1	0	0	0	0	0	1	0	0	13234	1291	45	5	2525	5	REST	4	57797539	Nonsense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08		57797539	133356737	55	79681											
TET2	54790	broad.mit.edu	37	chr4	106158510	106158510	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttgcagatgtgtaggTaagtgccagaaatgtactga	11	7	1	3			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr4:106158510T>C	uc003hxk.2	+	3	3795	c.3409_splice	c.e3+2	p.E1137_splice	TET2_uc011cez.1_Splice_Site_p.E1158_splice|TET2_uc003hxj.2_Splice_Site|TET2_uc010ilp.1_Splice_Site_p.E1137_splice|TET2_uc003hxi.1_Silent_p.G1137G	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a						cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GATGTGTAGGTAAGTGCCAGA	0.343			Mis N|F		MDS								C	106158510	T	C	106158510	5	2	140	1	0	0	0	0	0	0	1	0	15767	1652	57	3	3413	3	TET2	4	106158510	Splice_Site	SNP	T	TCGA-CD-5813-01A-11D-1600-08	48360971	106158510	84995766	56	79682											
ANKRD50	57182	broad.mit.edu	37	chr4	125590479	125590479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggcatttgtttaggtGgtgcagcagtcccggatttg	14	8	0	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr4:125590479G>A	uc003ifg.3	-	3	4219	c.3953C>T	c.(3952-3954)CCA>CTA	p.P1318L	ANKRD50_uc011cgo.1_Missense_Mutation_p.P1139L|ANKRD50_uc010inw.2_Missense_Mutation_p.P1318L	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1318										central_nervous_system(1)	1						TTGTTTAGGTGGTGCAGCAGT	0.398													A	125590479	G	A	125590479	3	1	140	1	0	0	0	0	1	0	0	0	677	1348	47	4	340	4	ANKRD50	4	125590479	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	19431969	125590479	65563797	57	79683											
CCT5	22948	broad.mit.edu	37	chr5	10262642	10262642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgctttgtgtgtcatccGgaacctcatccgcgataatc	9	12	2	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr5:10262642G>A	uc003jeq.2	+	9	1400	c.1229G>A	c.(1228-1230)CGG>CAG	p.R410Q	CCT5_uc003jer.2_Missense_Mutation_p.R410Q|CCT5_uc010its.2_Missense_Mutation_p.R410Q|CCT5_uc011cmr.1_Missense_Mutation_p.R355Q|CCT5_uc011cms.1_Missense_Mutation_p.R372Q|CCT5_uc011cmt.1_Missense_Mutation_p.R317Q	NM_012073	NP_036205	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	410					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			ovary(2)	2						TGTGTCATCCGGAACCTCATC	0.483													A	10262642	G	A	10262642	3	1	140	1	0	0	0	0	1	0	0	0	2956	1116	39	1	1263	1	CCT5	5	10262642	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08		10262642	170652618	58	79684											
CDH18	1016	broad.mit.edu	37	chr5	19591325	19591325	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagctgaaccaacttgagcTgactcaggaacatatagctg	9	10	1	3			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr5:19591325T>C	uc003jgc.2	-	6	1217	c.840A>G	c.(838-840)TCA>TCG	p.S280S	CDH18_uc003jgd.2_Silent_p.S280S|CDH18_uc011cnm.1_Silent_p.S280S	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	280	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CAACTTGAGCTGACTCAGGAA	0.353													C	19591325	T	C	19591325	2	2	140	1	0	0	0	0	0	0	0	1	3103	1567	55	3		3	CDH18	5	19591325	Silent	SNP	T	TCGA-CD-5813-01A-11D-1600-08	9328683	19591325	161323935	59	79685											
CDH9	1007	broad.mit.edu	37	chr5	26889953	26889953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattttatttacctgcccagGttttgcattttcacaaacaa	5	9	1	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr5:26889953G>A	uc003jgs.1	-	9	1673	c.1504C>T	c.(1504-1506)CCT>TCT	p.P502S	CDH9_uc011cnv.1_Missense_Mutation_p.P95S	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	502	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						ACCTGCCCAGGTTTTGCATTT	0.308													A	26889953	G	A	26889953	3	1	140	1	0	0	0	0	1	0	0	0	3117	1261	44	4	881	4	CDH9	5	26889953	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	7298628	26889953	154025307	60	79686											
TTC37	9652	broad.mit.edu	37	chr5	94849310	94849310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtagtgtgcctgaagagatCcatggtgtcataacttccaa	10	8	1	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr5:94849310C>T	uc003klb.2	-	27	3013	c.2743G>A	c.(2743-2745)GAT>AAT	p.D915N		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	915							binding			ovary(3)|pancreas(1)	4						CTGAAGAGATCCATGGTGTCA	0.333													T	94849310	C	T	94849310	3	4	140	1	0	0	0	0	1	0	0	0	16702	855	30	4	2019	4	TTC37	5	94849310	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	67959357	94849310	86065950	61	79687											
SLC25A46	91137	broad.mit.edu	37	chr5	110091222	110091222	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacaccttctactgaaatcGtaagtatcaaaaaatggcat	6	8	2	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr5:110091222G>A	uc003koz.2	+	6	687	c.620_splice	c.e6+1	p.S207_splice	SLC25A46_uc011cvi.1_Splice_Site_p.S116_splice	NM_138773	NP_620128	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46						transport	integral to membrane|mitochondrial inner membrane					0		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		TACTGAAATCGTAAGTATCAA	0.269													A	110091222	G	A	110091222	5	1	140	1	0	0	0	0	0	0	1	0	14511	1159	40	1	643	1	SLC25A46	5	110091222	Splice_Site	SNP	G	TCGA-CD-5813-01A-11D-1600-08	15241912	110091222	70824038	62	79688											
YTHDC2	64848	broad.mit.edu	37	chr5	112884712	112884712	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attgtggatcttctagaatcTtacaggtaaaactttgtact	7	6	3	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr5:112884712T>A	uc003kqn.2	+	12	1866	c.1683T>A	c.(1681-1683)TCT>TCA	p.S561S	YTHDC2_uc010jce.1_Silent_p.S561S|YTHDC2_uc010jcf.1_Silent_p.S261S	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	561	ANK 2.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTCTAGAATCTTACAGGTAAA	0.318													A	112884712	T	A	112884712	2	1	140	1	0	0	0	0	0	0	0	1	17494	1596	56	5		5	YTHDC2	5	112884712	Silent	SNP	T	TCGA-CD-5813-01A-11D-1600-08	2793490	112884712	68030548	63	79689											
KCNN2	3781	broad.mit.edu	37	chr5	113822818	113822818	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aatacaaagctagtgaaaaaGatagatcatgcaaaagtaag	8	4	1	3			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr5:113822818G>C	uc003kqo.2	+	6	1783	c.1326G>C	c.(1324-1326)AAG>AAC	p.K442N	KCNN2_uc003kqp.2_Missense_Mutation_p.K94N|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	442	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TAGTGAAAAAGATAGATCATG	0.338													C	113822818	G	C	113822818	3	2	140	1	0	0	0	0	1	0	0	0	8079	933	33	5	1348	5	KCNN2	5	113822818	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	938106	113822818	67092442	64	79690											
PCDH12	51294	broad.mit.edu	37	chr5	141334943	141334943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgccttgattacgcagcGtcctgtacagggtcggggtg	16	9	0	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr5:141334943G>A	uc003llx.2	-	1	3685	c.2474C>T	c.(2473-2475)ACG>ATG	p.T825M		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	825	Cytoplasmic (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTACGCAGCGTCCTGTACAG	0.622													A	141334943	G	A	141334943	3	1	140	1	0	0	0	0	1	0	0	0	11510	1145	40	1	1096	1	PCDH12	5	141334943	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	27512125	141334943	39580317	65	79691											
JAKMIP2	9832	broad.mit.edu	37	chr5	147024547	147024547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattgcttttcggtttcccGcacacgttttaactgggaag	9	10	0	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr5:147024547G>A	uc003loq.1	-	6	1331	c.949C>T	c.(949-951)CGG>TGG	p.R317W	JAKMIP2_uc011dbx.1_Missense_Mutation_p.R275W|JAKMIP2_uc003lor.1_Missense_Mutation_p.R317W|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.R317W	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	317	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGTTTCCCGCACACGTTTT	0.498													A	147024547	G	A	147024547	3	1	140	1	0	0	0	0	1	0	0	0	7941	1086	38	1	1547	1	JAKMIP2	5	147024547	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	5689604	147024547	33890713	66	79692											
ODZ2	57451	broad.mit.edu	37	chr5	167643779	167643779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtcttgctcaggtattgCagtagacaagaatgggctca	11	8	3	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr5:167643779C>T	uc010jjd.2	+	22	4058	c.4058C>T	c.(4057-4059)GCA>GTA	p.A1353V	ODZ2_uc003lzr.3_Missense_Mutation_p.A1123V|ODZ2_uc003lzt.3_Missense_Mutation_p.A726V|ODZ2_uc010jje.2_Missense_Mutation_p.A617V	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TCAGGTATTGCAGTAGACAAG	0.517													T	167643779	C	T	167643779	3	4	140	1	0	0	0	0	1	0	0	0	10835	710	25	2	4144	2	ODZ2	5	167643779	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	20619232	167643779	13271481	67	79693											
DDX41	51428	broad.mit.edu	37	chr5	176941731	176941731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctccatctgctctttcacGgacatgcccccaatgcagag	8	15	4	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr5:176941731G>A	uc003mho.2	-	9	927	c.906C>T	c.(904-906)TCC>TCT	p.S302S	DDX41_uc003mhm.2_Silent_p.S82S|DDX41_uc003mhn.2_Silent_p.S171S|DDX41_uc003mhp.2_Silent_p.S171S|DDX41_uc003mhq.1_Silent_p.S82S	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	302	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GCTCTTTCACGGACATGCCCC	0.622													A	176941731	G	A	176941731	2	1	140	1	0	0	0	0	0	0	0	1	4361	1103	39	1		1	DDX41	5	176941731	Silent	SNP	G	TCGA-CD-5813-01A-11D-1600-08	9297952	176941731	3973529	68	79694											
GCM2	9247	broad.mit.edu	37	chr6	10876784	10876784	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaatgacagttagggcatGccttctctgcaaagcccaga	10	11	1	3	rs35786951	byFrequency	TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr6:10876784G>T	uc003mzn.3	-	3	422	c.350C>A	c.(349-351)GCA>GAA	p.A117E	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	glial cells missing homolog 2	117	GCM.				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GTTAGGGCATGCCTTCTCTGC	0.493													T	10876784	G	T	10876784	3	4	140	1	0	0	0	0	1	0	0	0	6298	1319	46	5	1182	5	GCM2	6	10876784	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08		10876784	160238283	69	79695											
UBR2	23304	broad.mit.edu	37	chr6	42562022	42562061	+	Splice_Site	DEL	TCTGAAATTGAGGAAGAAGAGGTAAAAACATTTTCACAAA	TCTGAAATTGAGGAAGAAGAGGTAAAAACATTTTCACAAA	-													aaaaacatgaacttaacaccTctgaaattgaggaagaagag					rs6905054	byFrequency	TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr6:42562021_42562060CTCTGAAATTGAGGAAGAAGAGGTAAAAACATTTTCACAAA>C	uc011dur.2	+	4	829	c.531_splice	c.e4+1	p.E177_splice	UBR2_uc003osf.3_Splice_Site_p.E177_splice	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	177					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AACTTAACACCTCTGAAATTGAGGAAGAAGAGGTAAAAACATTTTCACAAAGTTGTTTTT	0.367													-	42562061	TCTGAAATTGAGGAAGAAGAGGTAAAAACATTTTCACAAA	-	42562022	8	5	140	1	0	1	0	1	0	0	1	0	16899	1551	54	0	525	0	UBR2	6	42562022	Splice_Site	DEL	TCTGAAATTGAGGAAGAAGAGGTAAAAACATTTTCACAAA	TCGA-CD-5813-01A-11D-1600-08	31685238	42562022	128553045	70	79696											
BAI3	577	broad.mit.edu	37	chr6	70049307	70049307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggccatgacagataaaCgctccatattgtttcaaata	6	9	2	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr6:70049307C>T	uc003pev.3	+	26	3818	c.3370C>T	c.(3370-3372)CGC>TGC	p.R1124C	BAI3_uc010kak.2_Missense_Mutation_p.R1124C|BAI3_uc011dxx.1_Missense_Mutation_p.R330C|BAI3_uc003pex.1_Missense_Mutation_p.R254C	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1124	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R1124C(1)		lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				GACAGATAAACGCTCCATATT	0.468													T	70049307	C	T	70049307	3	4	140	1	0	0	0	0	1	0	0	0	1300	536	19	1	3464	1	BAI3	6	70049307	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	27487285	70049307	101065760	71	79697											
LMBRD1	55788	broad.mit.edu	37	chr6	70428852	70428852	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caaaacatcaactcacttttGatttaatcgtttgaatgtgt	5	7	2	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr6:70428852G>C	uc003pfa.2	-	8	873	c.758C>G	c.(757-759)TCA>TGA	p.S253*	LMBRD1_uc003pey.2_Nonsense_Mutation_p.S49*|LMBRD1_uc003pez.2_Nonsense_Mutation_p.S180*|LMBRD1_uc010kal.2_Nonsense_Mutation_p.S180*|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	253	Cytoplasmic (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1						ACTCACTTTTGATTTAATCGT	0.353													C	70428852	G	C	70428852	4	2	140	1	0	0	0	0	0	1	0	0	8842	1294	45	5	900	5	LMBRD1	6	70428852	Nonsense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	379545	70428852	100686215	72	79698											
DOPEY1	23033	broad.mit.edu	37	chr6	83847707	83847707	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acaagaaaaaatcttcaaatGaaaaactcaaacaaaccagt	3	8	3	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr6:83847707G>C	uc003pjs.1	+	21	4206	c.3946G>C	c.(3946-3948)GAA>CAA	p.E1316Q	DOPEY1_uc011dyy.1_Missense_Mutation_p.E1307Q|DOPEY1_uc010kbl.1_Missense_Mutation_p.E1307Q|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1316					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ATCTTCAAATGAAAAACTCAA	0.368													C	83847707	G	C	83847707	3	2	140	1	0	0	0	0	1	0	0	0	4707	1291	45	5	4020	5	DOPEY1	6	83847707	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	13418855	83847707	87267360	73	79699											
C6orf168	84553	broad.mit.edu	37	chr6	99797102	99797102	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgccatgatcccaccgtaAtcctgcaaagggaaagcgat	9	13	0	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr6:99797102A>C	uc003ppj.3	-	1	430	c.147T>G	c.(145-147)GAT>GAG	p.D49E		NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	hypothetical protein LOC84553	49										ovary(2)|central_nervous_system(1)	3		all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.073)		TCCCACCGTAATCCTGCAAAG	0.587													C	99797102	A	C	99797102	3	2	140	1	0	0	0	0	1	0	0	0	2343	98	4	5	1106	5	C6orf168	6	99797102	Missense_Mutation	SNP	A	TCGA-CD-5813-01A-11D-1600-08	15949395	99797102	71317965	74	79700											
DGKB	1607	broad.mit.edu	37	chr7	14775679	14775679	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacttaccgcctgataggagAgcaggcttactttttaccat	8	10	0	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr7:14775679A>T	uc003ssz.2	-	4	496	c.309T>A	c.(307-309)GCT>GCA	p.A103A	DGKB_uc011jxt.1_Silent_p.A96A|DGKB_uc003sta.2_Silent_p.A103A|DGKB_uc011jxu.1_Silent_p.A103A|DGKB_uc011jxv.1_Silent_p.A103A	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	103					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)	CTGATAGGAGAGCAGGCTTAC	0.343													T	14775679	A	T	14775679	2	4	140	1	0	0	0	0	0	0	0	1	4466	291	11	5		5	DGKB	7	14775679	Silent	SNP	A	TCGA-CD-5813-01A-11D-1600-08		14775679	144362984	75	79701											
PRPS1L1	221823	broad.mit.edu	37	chr7	18067043	18067043	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatggtgatgatatgatcCgcacctgctatagagagcat	10	9	0	4			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr7:18067043C>T	uc003stz.2	-	1	444	c.363G>A	c.(361-363)GCG>GCA	p.A121A		NM_175886	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like	121					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			ovary(1)	1	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TGATATGATCCGCACCTGCTA	0.468													T	18067043	C	T	18067043	2	4	140	1	0	0	0	0	0	0	0	1	12579	639	23	1		1	PRPS1L1	7	18067043	Silent	SNP	C	TCGA-CD-5813-01A-11D-1600-08	3291364	18067043	141071620	76	79702											
C7orf31	136895	broad.mit.edu	37	chr7	25176344	25176344	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcctccagagaacgtcggttCtgaattaatcgggcaattcg	11	10	1	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr7:25176344C>G	uc003sxn.1	-	10	1581	c.1020G>C	c.(1018-1020)CAG>CAC	p.Q340H	C7orf31_uc003sxm.1_Missense_Mutation_p.Q182H	NM_138811	NP_620166	Q8N865	CG031_HUMAN	hypothetical protein LOC136895	340											0						AACGTCGGTTCTGAATTAATC	0.428													G	25176344	C	G	25176344	3	3	140	1	0	0	0	0	1	0	0	0	2387	912	32	5	756	5	C7orf31	7	25176344	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	7109301	25176344	133962319	77	79703											
PDE1C	5137	broad.mit.edu	37	chr7	31815302	31815302	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caacgtaaggcgacacgtggAgctggtgcttggggctggtg	18	8	0	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr7:31815302A>T	uc003tcm.1	-	17	2405	c.1936T>A	c.(1936-1938)TCC>ACC	p.S646T	PDE1C_uc003tcn.1_Missense_Mutation_p.S646T|PDE1C_uc003tco.1_Missense_Mutation_p.S706T	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	646					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			CGACACGTGGAGCTGGTGCTT	0.498													T	31815302	A	T	31815302	3	4	140	1	0	0	0	0	1	0	0	0	11635	319	11	5		5	PDE1C	7	31815302	Missense_Mutation	SNP	A	TCGA-CD-5813-01A-11D-1600-08	6638958	31815302	127323361	78	79704											
HECW1	23072	broad.mit.edu	37	chr7	43547678	43547678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaggtgatggcctattcgCggaaagagctccagcgaaac	12	10	1	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr7:43547678C>T	uc003tid.1	+	23	4419	c.3814C>T	c.(3814-3816)CGG>TGG	p.R1272W	HECW1_uc011kbi.1_Missense_Mutation_p.R1238W	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1272	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GGCCTATTCGCGGAAAGAGCT	0.542													T	43547678	C	T	43547678	3	4	140	1	0	0	0	0	1	0	0	0	7042	759	27	1	3896	1	HECW1	7	43547678	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	11732376	43547678	115590985	79	79705											
VWC2	375567	broad.mit.edu	37	chr7	49951740	49951740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcacatggagaatcgagCggcaggccatgtgcacgaga	15	9	0	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr7:49951740C>T	uc003tot.1	+	4	1493	c.937C>T	c.(937-939)CGG>TGG	p.R313W		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	313					negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space					0						GAGAATCGAGCGGCAGGCCAT	0.483													T	49951740	C	T	49951740	3	4	140	1	0	0	0	0	1	0	0	0	17240	759	27	1	947	1	VWC2	7	49951740	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	6404062	49951740	109186923	80	79706											
GBAS	2631	broad.mit.edu	37	chr7	56062651	56062651	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggattcttctctcagattGggcagctgtacatggtgcac	12	9	3	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr7:56062651G>T	uc003tre.1	+	8	690	c.682G>T	c.(682-684)GGG>TGG	p.G228W	GBAS_uc003trf.1_Missense_Mutation_p.G189W	NM_001483	NP_001474	O75323	NIPS2_HUMAN	nipsnap homolog 2	228						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			central_nervous_system(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTCTCAGATTGGGCAGCTGTA	0.448													T	56062651	G	T	56062651	3	4	140	1	0	0	0	0	1	0	0	0	6269	1348	47	5	712	5	GBAS	7	56062651	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	6110911	56062651	103076012	81	79707											
TYW1	55253	broad.mit.edu	37	chr7	66474641	66474641	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccattattaatctaaaagaAtatgatccagatgatcatct	5	7	3	4			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr7:66474641A>T	uc003tvn.2	+	4	494	c.345A>T	c.(343-345)GAA>GAT	p.E115D	TYW1_uc010lai.2_RNA	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	radical S-adenosyl methionine and flavodoxin	115	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			skin(1)	1		Lung NSC(55;0.0846)|all_lung(88;0.183)				ATCTAAAAGAATATGATCCAG	0.348													T	66474641	A	T	66474641	3	4	140	1	0	0	0	0	1	0	0	0	16815	98	4	5	359	5	TYW1	7	66474641	Missense_Mutation	SNP	A	TCGA-CD-5813-01A-11D-1600-08	10411990	66474641	92664022	82	79708											
SLC26A3	1811	broad.mit.edu	37	chr7	107408210	107408210	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcaccaaagagctgataCctgactgggattaaactttg	9	8	1	3			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr7:107408210C>T	uc003ver.2	-	19	2416	c.2205_splice	c.e19+1	p.Q735_splice	SLC26A3_uc003ves.2_Splice_Site_p.Q622_splice	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3						excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)|skin(1)	4						AGAGCTGATACCTGACTGGGA	0.333													T	107408210	C	T	107408210	5	4	140	1	0	0	0	0	0	0	1	0	14518	521	18	4	100	4	SLC26A3	7	107408210	Splice_Site	SNP	C	TCGA-CD-5813-01A-11D-1600-08	40933569	107408210	51730453	83	79709											
NUP205	23165	broad.mit.edu	37	chr7	135301844	135301844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttattatttctagtacgtcGaaaaattctaaatattcttg	4	5	3	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr7:135301844G>A	uc003vsw.2	+	26	3570	c.3539G>A	c.(3538-3540)CGA>CAA	p.R1180Q	NUP205_uc003vsx.2_5'Flank	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1180					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						CTAGTACGTCGAAAAATTCTA	0.343													A	135301844	G	A	135301844	3	1	140	1	0	0	0	0	1	0	0	0	10759	1058	37	1	3641	1	NUP205	7	135301844	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	27893634	135301844	23836819	84	79710											
TRIM24	8805	broad.mit.edu	37	chr7	138269538	138269538	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacttgaaaattattttgaaGaacttctaaagaacctctat	4	6	2	4			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr7:138269538G>A	uc003vuc.2	+	19	3210	c.2995G>A	c.(2995-2997)GAA>AAA	p.E999K	TRIM24_uc003vub.2_Missense_Mutation_p.E965K	NM_015905	NP_056989	O15164	TIF1A_HUMAN	transcriptional intermediary factor 1 alpha	999					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						TTATTTTGAAGAACTTCTAAA	0.313													A	138269538	G	A	138269538	3	1	140	1	0	0	0	0	1	0	0	0	16495	943	33	4	3069	4	TRIM24	7	138269538	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	2967694	138269538	20869125	85	79711											
CASP2	835	broad.mit.edu	37	chr7	143000938	143000938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgcaggatcccctgggtgCgaggagagtgatgccggtaa	16	10	0	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr7:143000938C>T	uc003wco.2	+	9	1176	c.1029C>T	c.(1027-1029)TGC>TGT	p.C343C	CASP2_uc003wcp.2_3'UTR|CASP2_uc011kta.1_Silent_p.C227C|CASP2_uc003wcq.2_RNA|CASP2_uc011ktb.1_Silent_p.C93C	NM_032982	NP_116764	P42575	CASP2_HUMAN	caspase 2 isoform 1 preproprotein	343					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			lung(2)|ovary(1)	3	Melanoma(164;0.059)					CCCCTGGGTGCGAGGAGAGTG	0.498													T	143000938	C	T	143000938	2	4	140	1	0	0	0	0	0	0	0	1	2671	776	27	1		1	CASP2	7	143000938	Silent	SNP	C	TCGA-CD-5813-01A-11D-1600-08	4731400	143000938	16137725	86	79712											
ARFGEF1	10565	broad.mit.edu	37	chr8	68123821	68123821	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttggttgaatagaatcatgAatatctacagacttctgtga	8	6	3	5			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr8:68123821A>T	uc003xxo.1	-	34	5106	c.4716T>A	c.(4714-4716)ATT>ATA	p.I1572I	ARFGEF1_uc003xxl.1_Silent_p.I1026I|ARFGEF1_uc003xxn.1_Silent_p.I549I	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1572					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	p.I1572V(1)		ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TAGAATCATGAATATCTACAG	0.323													T	68123821	A	T	68123821	2	4	140	1	0	0	0	0	0	0	0	1	852	242	9	5		5	ARFGEF1	8	68123821	Silent	SNP	A	TCGA-CD-5813-01A-11D-1600-08		68123821	78240201	87	79713											
PREX2	80243	broad.mit.edu	37	chr8	68999988	68999988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aattccagattcagctgatgGacttggcttccagatccggg	11	10	1	3			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr8:68999988G>A	uc003xxv.1	+	19	2084	c.2057G>A	c.(2056-2058)GGA>GAA	p.G686E	PREX2_uc003xxu.1_Missense_Mutation_p.G686E|PREX2_uc011lez.1_Missense_Mutation_p.G621E	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	686	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						TCAGCTGATGGACTTGGCTTC	0.433													A	68999988	G	A	68999988	3	1	140	1	0	0	0	0	1	0	0	0	12477	1174	41	4	2131	4	PREX2	8	68999988	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	876167	68999988	77364034	88	79714											
PAG1	55824	broad.mit.edu	37	chr8	81897177	81897177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctacattaacactttgaCgacattttttgtttctgtcc	4	10	2	1	rs138317242		TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr8:81897177C>T	uc003ybz.2	-	7	1421	c.710G>A	c.(709-711)CGT>CAT	p.R237H		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid	237	Cytoplasmic (Potential).				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity				0	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			AACACTTTGACGACATTTTTT	0.473													T	81897177	C	T	81897177	3	4	140	1	0	0	0	0	1	0	0	0	11388	536	19	1	600	1	PAG1	8	81897177	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	12897189	81897177	64466845	89	79715											
CDH17	1015	broad.mit.edu	37	chr8	95186360	95186360	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagagagatggctcccgtttTgttgttgatctgaaagtaca	11	6	1	4			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr8:95186360T>A	uc003ygh.2	-	6	678	c.553A>T	c.(553-555)AAA>TAA	p.K185*	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Nonsense_Mutation_p.K185*	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	185	Extracellular (Potential).|Cadherin 2.					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GCTCCCGTTTTGTTGTTGATC	0.493													A	95186360	T	A	95186360	4	1	140	1	0	0	0	0	0	1	0	0	3102	1821	63	5	1997	5	CDH17	8	95186360	Nonsense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08	13289183	95186360	51177662	90	79716											
PLEKHF2	79666	broad.mit.edu	37	chr8	96166441	96166459	+	Frame_Shift_Del	DEL	TTGTTTAATGATATTCTTG	TTGTTTAATGATATTCTTG	-													ccaaagcaaggcagtttttcTtgtttaatgatattcttgta							TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr8:96166440_96166458CTTGTTTAATGATATTCTTG>C	uc022ayk.1	+	0	168_186	c.168_186CTTGTTTAATGATATTCTTG>C	c.(166-186)ttcttgtttaatgatattcttfs	p.F56fs	PLEKHF2_uc003yhn.2_Frame_Shift_Del_p.F56fs	NM_024613	NP_078889	Q9H8W4	PKHF2_HUMAN	Homo sapiens pleckstrin homology domain containing, family F (with FYVE domain) member 2 (PLEKHF2), mRNA.	56	PH.					transport vesicle	metal ion binding|protein binding	p.L57V(2)		breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					GGCAGTTTTTCTTGTTTAATGATATTCTTGTATATGGCA	0.365													-	96166459	TTGTTTAATGATATTCTTG	-	96166441	7	5	140	1	0	1	0	1	0	0	0	0	12067	1606	56	0	171	0	PLEKHF2	8	96166441	Frame_Shift_Del	DEL	TTGTTTAATGATATTCTTG	TCGA-CD-5813-01A-11D-1600-08	980081	96166441	50197581	91	79717											
PTDSS1	9791	broad.mit.edu	37	chr8	97318782	97318782	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcatcacagctcccacagtGaggtaattctgcacaagcct	9	13	2	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr8:97318782G>A	uc003yht.1	+	8	1107	c.1005G>A	c.(1003-1005)GTG>GTA	p.V335V	PTDSS1_uc003yhu.1_Silent_p.V189V	NM_014754	NP_055569	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	335					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			ovary(1)	1	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CTCCCACAGTGAGGTAATTCT	0.393													A	97318782	G	A	97318782	2	1	140	1	0	0	0	0	0	0	0	1	12736	1277	45	4		4	PTDSS1	8	97318782	Silent	SNP	G	TCGA-CD-5813-01A-11D-1600-08	1152341	97318782	49045240	92	79718											
DPYS	1807	broad.mit.edu	37	chr8	105441868	105441868	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcatggtgccattctttattCcagtagtgagtgccatctgt	10	9	2	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr8:105441868C>A	uc003yly.3	-	5	984	c.855G>T	c.(853-855)TGG>TGT	p.W285C		NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	285					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATTCTTTATTCCAGTAGTGAG	0.468													A	105441868	C	A	105441868	3	1	140	1	0	0	0	0	1	0	0	0	4746	856	30	5	724	5	DPYS	8	105441868	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	8123086	105441868	40922154	93	79719											
ZFPM2	23414	broad.mit.edu	37	chr8	106456569	106456569	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacacagtcagagaaaccGgggcaacctggagttgagac	13	10	1	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr8:106456569G>A	uc003ymd.2	+	3	284	c.261G>A	c.(259-261)CCG>CCA	p.P87P		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	87					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGAGAAACCGGGGCAACCTG	0.443													A	106456569	G	A	106456569	2	1	140	1	0	0	0	0	0	0	0	1	17655	1103	39	1		1	ZFPM2	8	106456569	Silent	SNP	G	TCGA-CD-5813-01A-11D-1600-08	1014701	106456569	39907453	94	79720											
KCNV1	27012	broad.mit.edu	37	chr8	110984700	110984700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccgcacacacaggaagcGgaggacaaactccccggtga	12	14	0	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr8:110984700G>A	uc003ynr.3	-	2	1120	c.778C>T	c.(778-780)CGC>TGC	p.R260C	KCNV1_uc010mcw.2_Missense_Mutation_p.R260C	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	260	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CACAGGAAGCGGAGGACAAAC	0.532													A	110984700	G	A	110984700	3	1	140	1	0	0	0	0	1	0	0	0	8094	1116	39	1	732	1	KCNV1	8	110984700	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	4528131	110984700	35379322	95	79721											
CSMD3	114788	broad.mit.edu	37	chr8	114326985	114326985	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctttctatagtgccattAagtccttttaaagttccacc	7	10	1	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr8:114326985A>G	uc003ynu.2	-	2	375	c.216T>C	c.(214-216)CTT>CTC	p.L72L	CSMD3_uc003ynt.2_Silent_p.L32L|CSMD3_uc011lhx.1_Silent_p.L72L|CSMD3_uc010mcx.1_Silent_p.L72L|CSMD3_uc003ynx.3_Silent_p.L72L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	72	Extracellular (Potential).|CUB 1.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TAGTGCCATTAAGTCCTTTTA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	114326985	A	G	114326985	2	3	140	1	0	0	0	0	0	0	0	1	3946	349	13	3		3	CSMD3	8	114326985	Silent	SNP	A	TCGA-CD-5813-01A-11D-1600-08	3342285	114326985	32037037	96	79722											
ASAP1	50807	broad.mit.edu	37	chr8	131073151	131073151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttctcctggcttaggcgGcaaatctccaatttggggct	11	11	2	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr8:131073151G>A	uc003yta.1	-	27	2894	c.2866C>T	c.(2866-2868)CCG>TCG	p.P956S	ASAP1_uc003ysz.1_Missense_Mutation_p.P767S|ASAP1_uc011liw.1_Missense_Mutation_p.P949S	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	956	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						GGCTTAGGCGGCAAATCTCCA	0.572													A	131073151	G	A	131073151	3	1	140	1	0	0	0	0	1	0	0	0	1010	1203	42	2	535	2	ASAP1	8	131073151	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	16746166	131073151	15290871	97	79723											
KIAA1432	57589	broad.mit.edu	37	chr9	5763255	5763255	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctctggctgagctgtggtgGtgcagggatgaaagtttggc	17	7	1	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr9:5763255G>C	uc003zji.2	+	18	2084	c.1991G>C	c.(1990-1992)GGT>GCT	p.G664A	KIAA1432_uc003zjh.2_Missense_Mutation_p.G664A|KIAA1432_uc003zjl.3_Missense_Mutation_p.G627A|KIAA1432_uc003zjj.1_Missense_Mutation_p.G206A	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN	connexin 43-interacting protein 150 isoform a	743						integral to membrane					0		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AGCTGTGGTGGTGCAGGGATG	0.522													C	5763255	G	C	5763255	3	2	140	1	0	0	0	0	1	0	0	0	8233	1261	44	5	2061	5	KIAA1432	9	5763255	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08		5763255	135450176	98	79724											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18777842	18777842	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttctgcactgtgaggccatCggccacccaaggcctaccat	9	16	1	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr9:18777842C>T	uc003zne.3	+	19	3742	c.3615C>T	c.(3613-3615)ATC>ATT	p.I1205I		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	1205	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		GTGAGGCCATCGGCCACCCAA	0.622													T	18777842	C	T	18777842	2	4	140	1	0	0	0	0	0	0	0	1	274	874	31	1		1	ADAMTSL1	9	18777842	Silent	SNP	C	TCGA-CD-5813-01A-11D-1600-08	13014587	18777842	122435589	99	79725											
TRPM6	140803	broad.mit.edu	37	chr9	77397699	77397699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcttttggcgaaaggatgGccttgcgtgccactccaaag	12	11	1	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr9:77397699G>A	uc004ajl.1	-	22	3228	c.2990C>T	c.(2989-2991)GCC>GTC	p.A997V	TRPM6_uc004ajk.1_Missense_Mutation_p.A992V|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.A283V	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	997	Extracellular (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						CGAAAGGATGGCCTTGCGTGC	0.438													A	77397699	G	A	77397699	3	1	140	1	0	0	0	0	1	0	0	0	16587	1203	42	2	3150	2	TRPM6	9	77397699	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	58619857	77397699	63815732	100	79726											
CYLC2	1539	broad.mit.edu	37	chr9	105767382	105767382	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagaagaaaagctagatGcaaagaaagatagcaaaaaa	9	3	0	5			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr9:105767382G>C	uc004bbs.2	+	5	539	c.469G>C	c.(469-471)GCA>CCA	p.A157P		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	157	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.|1.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)				aaagctagatgcaaagaaaga	0.065													C	105767382	G	C	105767382	3	2	140	1	0	0	0	0	1	0	0	0	4142	1319	46	5	487	5	CYLC2	9	105767382	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	28369683	105767382	35446049	101	79727											
OR13C8	138802	broad.mit.edu	37	chr9	107332160	107332160	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggaaaacataaggccTtctccacctgctcagcccac	7	15	2	1	rs150811269	byFrequency	TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr9:107332160T>C	uc011lvo.1	+	1	712	c.712T>C	c.(712-714)TTC>CTC	p.F238L		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C,	238	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						ACATAAGGCCTTCTCCACCTG	0.413													C	107332160	T	C	107332160	3	2	140	1	0	0	0	0	1	0	0	0	10938	1609	56	3	714	3	OR13C8	9	107332160	Missense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08	1564778	107332160	33881271	102	79728											
DFNB31	25861	broad.mit.edu	37	chr9	117188662	117188662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggatgttgagaaagctcCgcccattcacttctagaatc	9	10	2	2	rs139193948	byFrequency	TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr9:117188662C>T	uc004biz.3	-	4	1644	c.995G>A	c.(994-996)CGG>CAG	p.R332Q	DFNB31_uc004bix.2_5'Flank|DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Missense_Mutation_p.R332Q	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	332	PDZ 2.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						GAGAAAGCTCCGCCCATTCAC	0.557													T	117188662	C	T	117188662	3	4	140	1	0	0	0	0	1	0	0	0	4455	652	23	1	1764	1	DFNB31	9	117188662	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	9856502	117188662	24024769	103	79729											
TNC	3371	broad.mit.edu	37	chr9	117786383	117786383	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtccttgtcaaaggtggagaAggatctgccattgtggtagg	15	6	2	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr9:117786383A>T	uc004bjj.3	-	27	6726	c.6364T>A	c.(6364-6366)TTC>ATC	p.F2122I	TNC_uc010mvf.2_Missense_Mutation_p.F1849I	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	2122	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						AAGGTGGAGAAGGATCTGCCA	0.498													T	117786383	A	T	117786383	3	4	140	1	0	0	0	0	1	0	0	0	16267	72	3	5	249	5	TNC	9	117786383	Missense_Mutation	SNP	A	TCGA-CD-5813-01A-11D-1600-08	597721	117786383	23427048	104	79730											
SCAI	286205	broad.mit.edu	37	chr9	127733666	127733666	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacccgaaaaatcttgtgcaTcctcatggtggctgaacaaa	8	10	2	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr9:127733666T>G	uc004bpe.2	-	17	1738	c.1657A>C	c.(1657-1659)ATG>CTG	p.M553L	SCAI_uc004bpd.2_Missense_Mutation_p.M576L|SCAI_uc010mwu.2_RNA	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion isoform 2	553				M -> T (in Ref. 1; BAC05217).	negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			ovary(2)|breast(2)|central_nervous_system(1)	5						ATCTTGTGCATCCTCATGGTG	0.333													G	127733666	T	G	127733666	3	3	140	1	0	0	0	0	1	0	0	0	13869	1435	50	5	171	5	SCAI	9	127733666	Missense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08	9947283	127733666	13479765	105	79731											
HSPA14	51182	broad.mit.edu	37	chr10	14881921	14881921	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggatggccgggctggtgtGgttgcaaatgatgccggtga	18	6	0	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr10:14881921G>A	uc001inf.2	+	2	216	c.75G>A	c.(73-75)GTG>GTA	p.V25V	CDNF_uc001inb.1_5'Flank|CDNF_uc010qbv.1_5'Flank|CDNF_uc001inc.1_5'Flank|HSPA14_uc001ind.2_5'UTR|HSPA14_uc001ine.2_Silent_p.V25V|HSPA14_uc010qbw.1_Silent_p.V25V	NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14 isoform 1	25					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			ovary(2)|breast(2)|lung(1)	5						GGGCTGGTGTGGTTGCAAATG	0.433													A	14881921	G	A	14881921	2	1	140	1	0	0	0	0	0	0	0	1	7407	1335	47	4		4	HSPA14	10	14881921	Silent	SNP	G	TCGA-CD-5813-01A-11D-1600-08		14881921	120652826	106	79732											
PCDH15	65217	broad.mit.edu	37	chr10	56424016	56424016	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtccagagataaaactgtcGaaacatcttctgtcaaagtt	7	8	3	1	rs137853001		TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr10:56424016G>A	uc001jju.1	-	2	402	c.7C>T	c.(7-9)CGA>TGA	p.R3*	PCDH15_uc010qhq.1_Nonsense_Mutation_p.R3*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.R3*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.R3*|PCDH15_uc010qht.1_Nonsense_Mutation_p.R3*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.R3*|PCDH15_uc001jjv.1_Nonsense_Mutation_p.R3*|PCDH15_uc010qhv.1_Nonsense_Mutation_p.R3*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.R3*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.R3*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.R3*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.R3*|PCDH15_uc010qia.1_Nonsense_Mutation_p.R3*|PCDH15_uc010qib.1_Nonsense_Mutation_p.R3*|PCDH15_uc001jjw.2_Nonsense_Mutation_p.R3*	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	3					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TAAAACTGTCGAAACATCTTC	0.373										HNSCC(58;0.16)			A	56424016	G	A	56424016	4	1	140	1	0	0	0	0	0	1	0	0	11511	1066	37	1	7651	1	PCDH15	10	56424016	Nonsense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	41542095	56424016	79110731	107	79733											
KIAA1274	27143	broad.mit.edu	37	chr10	72299481	72299481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggcctcacctaccaccGcatccccatgccggacttct	6	20	2	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr10:72299481G>A	uc001jrd.3	+	15	2152	c.1871G>A	c.(1870-1872)CGC>CAC	p.R624H	KIAA1274_uc001jre.3_5'UTR	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	624										ovary(2)|central_nervous_system(1)	3						ACCTACCACCGCATCCCCATG	0.667													A	72299481	G	A	72299481	3	1	140	1	0	0	0	0	1	0	0	0	8220	1087	38	1	1925	1	KIAA1274	10	72299481	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	15875465	72299481	63235266	108	79734											
UNC5B	219699	broad.mit.edu	37	chr10	73048388	73048388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgagtgtgcccactggcGtagccgcgagtgcatggcgc	15	13	0	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr10:73048388G>A	uc001jro.2	+	7	1410	c.965G>A	c.(964-966)CGT>CAT	p.R322H	UNC5B_uc001jrp.2_Missense_Mutation_p.R322H	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	322	TSP type-1 2.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						GCCCACTGGCGTAGCCGCGAG	0.627													A	73048388	G	A	73048388	3	1	140	1	0	0	0	0	1	0	0	0	16989	1145	40	1	991	1	UNC5B	10	73048388	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	748907	73048388	62486359	109	79735											
CNNM1	26507	broad.mit.edu	37	chr10	101147700	101147700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccacaacccggggcacaCcccagacccctaaggatgac	8	20	0	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr10:101147700C>T	uc001kpp.3	+	8	2753	c.2464C>T	c.(2464-2466)CCC>TCC	p.P822S	CNNM1_uc010qpi.1_Missense_Mutation_p.P843S|CNNM1_uc009xwf.2_Missense_Mutation_p.P822S|CNNM1_uc009xwg.2_Missense_Mutation_p.P222S	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	822					ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CCGGGGCACACCCCAGACCCC	0.642													T	101147700	C	T	101147700	3	4	140	1	0	0	0	0	1	0	0	0	3612	507	18	4	2494	4	CNNM1	10	101147700	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	28099312	101147700	34387047	110	79736											
ABCC2	1244	broad.mit.edu	37	chr10	101590609	101590609	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattcatagaaactggaaagGtgaacaccacacagaaaagt	8	7	1	3			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr10:101590609G>A	uc001kqf.2	+	21	3022	c.2883_splice	c.e21+1	p.K961_splice		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),							apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AACTGGAAAGGTGAACACCAC	0.343													A	101590609	G	A	101590609	5	1	140	1	0	0	0	0	0	0	1	0	53	1275	44	4	2966	4	ABCC2	10	101590609	Splice_Site	SNP	G	TCGA-CD-5813-01A-11D-1600-08	442909	101590609	33944138	111	79737											
TRIM5	85363	broad.mit.edu	37	chr11	5686494	5686494	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caggatgccagtacaataatTgaaattcacaaatgtctggt	8	7	2	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr11:5686494T>A	uc001mbm.1	-	8	1284	c.1027A>T	c.(1027-1029)AAT>TAT	p.N343Y	TRIM78P_uc009yer.2_RNA|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Intron|TRIM5_uc001mbo.2_Intron|TRIM5_uc001mbp.2_3'UTR	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	343	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GTACAATAATTGAAATTCACA	0.443													A	5686494	T	A	5686494	3	1	140	1	0	0	0	0	1	0	0	0	16522	1812	63	5	548	5	TRIM5	11	5686494	Missense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08		5686494	129320022	112	79738											
OR10A4	283297	broad.mit.edu	37	chr11	6898541	6898541	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctgggatcctatgtccgCatcctctccactatcttcag	6	15	3	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr11:6898541C>T	uc010rat.1	+	1	663	c.663C>T	c.(661-663)CGC>CGT	p.R221R		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A,	221	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTATGTCCGCATCCTCTCCA	0.512													T	6898541	C	T	6898541	2	4	140	1	0	0	0	0	0	0	0	1	10892	697	25	2		2	OR10A4	11	6898541	Silent	SNP	C	TCGA-CD-5813-01A-11D-1600-08	1212047	6898541	128107975	113	79739											
AHNAK	79026	broad.mit.edu	37	chr11	62291859	62291859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatttctttgacttgccttCgatattaagcttaggaccgg	9	8	1	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr11:62291859C>T	uc001ntl.2	-	5	10330	c.10030G>A	c.(10030-10032)GAA>AAA	p.E3344K	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3344					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GACTTGCCTTCGATATTAAGC	0.428													T	62291859	C	T	62291859	3	4	140	1	0	0	0	0	1	0	0	0	414	893	31	1	7762	1	AHNAK	11	62291859	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	55393318	62291859	72714657	114	79740											
CCDC88B	283234	broad.mit.edu	37	chr11	64108164	64108164	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagccgcccctttggtTggagaagagattcctgcgcc	14	11	0	3			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr11:64108164T>C	uc001nzy.2	+	2	190	c.146T>C	c.(145-147)TTG>TCG	p.L49S	CCDC88B_uc009ypo.1_Missense_Mutation_p.L49S|CCDC88B_uc001nzz.1_5'Flank	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88	49					microtubule cytoskeleton organization	cytoplasm	microtubule binding			ovary(3)|skin(1)	4						CCCCTTTGGTTGGAGAAGAGA	0.527													C	64108164	T	C	64108164	3	2	140	1	0	0	0	0	1	0	0	0	2864	1821	63	3	152	3	CCDC88B	11	64108164	Missense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08	1816305	64108164	70898352	115	79741											
SNX15	29907	broad.mit.edu	37	chr11	64802601	64802601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccccctctgatccccaCcccgccccctgatgaccccc	5	26	1	3			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr11:64802601C>T	uc001oci.3	+	8	1096	c.443C>T	c.(442-444)ACC>ATC	p.T148I	SNX15_uc009ypy.2_Missense_Mutation_p.T148I|SNX15_uc001ocj.2_Missense_Mutation_p.T148I|SNX15_uc001ock.2_Missense_Mutation_p.T148I	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	sorting nexin 15 isoform A	148					cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			ovary(1)	1						CTGATCCCCACCCCGCCCCCT	0.642													T	64802601	C	T	64802601	3	4	140	1	0	0	0	0	1	0	0	0	14886	507	18	4	461	4	SNX15	11	64802601	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	694437	64802601	70203915	116	79742											
GRM5	2915	broad.mit.edu	37	chr11	88780945	88780945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccaataatgatgtcaccCggcatgtgagccaccaccct	8	15	1	2	rs78028403	byFrequency	TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr11:88780945C>T	uc001pcq.2	-	1	296	c.96G>A	c.(94-96)CCG>CCA	p.P32P	GRM5_uc009yvm.2_Silent_p.P32P|GRM5_uc009yvn.1_Silent_p.P32P	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	32	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.P32L(1)		central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TGATGTCACCCGGCATGTGAG	0.498													T	88780945	C	T	88780945	2	4	140	1	0	0	0	0	0	0	0	1	6800	639	23	1		1	GRM5	11	88780945	Silent	SNP	C	TCGA-CD-5813-01A-11D-1600-08	23978344	88780945	46225571	117	79743											
FAT3	120114	broad.mit.edu	37	chr11	92495088	92495088	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggtggtggttcaggttctaGatgaaaatgacaacaagccc	13	7	2	3			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr11:92495088G>T	uc001pdj.3	+	4	3753	c.3736G>T	c.(3736-3738)GAT>TAT	p.D1246Y		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1246	Cadherin 11.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCAGGTTCTAGATGAAAATGA	0.473										TCGA Ovarian(4;0.039)			T	92495088	G	T	92495088	3	4	140	1	0	0	0	0	1	0	0	0	5691	942	33	5	3750	5	FAT3	11	92495088	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	3714143	92495088	42511428	118	79744											
TBCEL	219899	broad.mit.edu	37	chr11	120957792	120957792	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agataaaatttacgtggaatCcaaaacaaaataacctctac	4	8	1	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr11:120957792C>A	uc009zay.2	+	8	1340	c.1262C>A	c.(1261-1263)TCC>TAC	p.S421Y	TBCEL_uc001pxo.2_Missense_Mutation_p.S421Y|TBCEL_uc001pxp.2_Missense_Mutation_p.S277Y|TBCEL_uc001pxq.2_RNA	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	421	Ubiquitin-like.					cytoplasm|cytoskeleton				skin(1)	1		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TACGTGGAATCCAAAACAAAA	0.418													A	120957792	C	A	120957792	3	1	140	1	0	0	0	0	1	0	0	0	15632	855	30	5	1288	5	TBCEL	11	120957792	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	28462704	120957792	14048724	119	79745											
HSPA8	3312	broad.mit.edu	37	chr11	122931927	122931927	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacatagcttggagtggttcGgtttccctgatcattggcaa	12	8	1	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr11:122931927G>C	uc001pyo.2	-	2	184	c.106C>G	c.(106-108)CGA>GGA	p.R36G	HSPA8_uc009zbc.2_5'Flank|HSPA8_uc001pyp.2_Missense_Mutation_p.R36G|HSPA8_uc010rzu.1_Missense_Mutation_p.R36G|HSPA8_uc009zbd.1_Missense_Mutation_p.R36G|HSPA8_uc010rzv.1_Missense_Mutation_p.R36G	NM_006597	NP_006588	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8 isoform 1	36					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			central_nervous_system(7)|lung(1)	8		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGAGTGGTTCGGTTTCCCTGA	0.488													C	122931927	G	C	122931927	3	2	140	1	0	0	0	0	1	0	0	0	7416	1124	39	5	1866	5	HSPA8	11	122931927	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	1974135	122931927	12074589	120	79746											
OR10S1	219873	broad.mit.edu	37	chr11	123847671	123847671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccggccctgggctgtgCggatgcgcaacacagctgcc	15	15	0	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr11:123847671C>T	uc001pzm.1	-	1	728	c.728G>A	c.(727-729)CGC>CAC	p.R243H		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	243	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTGGGCTGTGCGGATGCGCAA	0.602													T	123847671	C	T	123847671	3	4	140	1	0	0	0	0	1	0	0	0	10918	768	27	1	271	1	OR10S1	11	123847671	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	915744	123847671	11158845	121	79747											
CD163	9332	broad.mit.edu	37	chr12	7649556	7649556	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccttactggcgttaactcGaccaatggctgtgacggcag	11	12	0	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr12:7649556G>A	uc001qsz.3	-	5	1080	c.952C>T	c.(952-954)CGA>TGA	p.R318*	CD163_uc001qta.3_Nonsense_Mutation_p.R318*|CD163_uc009zfw.2_Nonsense_Mutation_p.R318*	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	318	SRCR 3.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						GCGTTAACTCGACCAATGGCT	0.517													A	7649556	G	A	7649556	4	1	140	1	0	0	0	0	0	1	0	0	2967	1066	37	1	2566	1	CD163	12	7649556	Nonsense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08		7649556	126202339	122	79748											
LOH12CR1	118426	broad.mit.edu	37	chr12	12618516	12618516	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaactctgttcagcttcatgCaggagcgccagaaaagatac	9	10	3	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr12:12618516C>A	uc001ral.2	+	4	763	c.397C>A	c.(397-399)CAG>AAG	p.Q133K	LOH12CR1_uc009zhu.2_Missense_Mutation_p.Q85K	NM_058169	NP_477517	Q969J3	L12R1_HUMAN	LOH1CR12	133										ovary(1)	1		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		CAGCTTCATGCAGGAGCGCCA	0.512													A	12618516	C	A	12618516	3	1	140	1	0	0	0	0	1	0	0	0	8891	711	25	5	411	5	LOH12CR1	12	12618516	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	4968960	12618516	121233379	123	79749											
C12orf39	80763	broad.mit.edu	37	chr12	21684076	21684077	+	Frame_Shift_Ins	INS	-	-	A													tttttttcttacagatgaagINSaaaaaaactttgatcaaacc							TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr12:21684076_21684077insA	uc001rfa.1	+	6	449_450	c.298_299insA	c.(298-300)GAAfs	p.E100fs	C12orf39_uc009ziv.1_RNA|C12orf39_uc009ziw.1_RNA	NM_030572	NP_085049	Q9BT56	SPXN_HUMAN	spexin precursor	100						extracellular region|nucleus|transport vesicle					0						TACAGATGAAGAAAAAAACTTT	0.282													A	21684077	-	A	21684076	7	5	140	1	0	1	1	0	0	0	0	0	1684	943	33	0	320	0	C12orf39	12	21684076	Frame_Shift_Ins	INS	-	TCGA-CD-5813-01A-11D-1600-08	9065560	21684076	112167819	124	79750	396	2									
C12orf39	80763	broad.mit.edu	37	chr12	21684077	21684078	+	Frame_Shift_Ins	INS	-	-	A													ttttttcttacagatgaagaINSaaaaaactttgatcaaacca							TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr12:21684076_21684077G>GA	uc001rfa.1	+	5	449_450	c.298_299G>GA	c.(298-300)gaafs	p.E100fs	C12orf39_uc009ziv.1_Non-coding_Transcript|C12orf39_uc009ziw.1_Non-coding_Transcript	NM_030572	NP_085049	Q9BT56	SPXN_HUMAN	Homo sapiens chromosome 12 open reading frame 39 (C12orf39), mRNA.	100						extracellular region|nucleus|transport vesicle				endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						TACAGATGAAGAAAAAAACTTT	0.282													A	21684078	-	A	21684077	7	5	140	1	0	1	1	0	0	0	0	0	1684	246	9	0	321	0	C12orf39	12	21684077	Frame_Shift_Ins	INS	-	TCGA-CD-5813-01A-11D-1600-08	1	21684077	112167818	125	79751	396	2									
BHLHE41	79365	broad.mit.edu	37	chr12	26277452	26277452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcgggaacttacacttacCttggtgtcgtctcgtttcat	8	10	2	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr12:26277452C>T	uc001rhb.2	-	2	417	c.126G>A	c.(124-126)AAG>AAA	p.K42K		NM_030762	NP_110389	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix domain containing, class	42					cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						TTACACTTACCTTGGTGTCGT	0.448													T	26277452	C	T	26277452	2	4	140	1	0	0	0	0	0	0	0	1	1424	695	24	4		4	BHLHE41	12	26277452	Silent	SNP	C	TCGA-CD-5813-01A-11D-1600-08	4593375	26277452	107574443	126	79752											
DDX23	9416	broad.mit.edu	37	chr12	49239430	49239460	+	Frame_Shift_Del	DEL	GCTTTCTATCTTTAGATGGGGAAGACTTCCG	GCTTTCTATCTTTAGATGGGGAAGACTTCCG	-													tctatcccttgaacgatgccGctttctatctttagatgggg							TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr12:49239429_49239459CGCTTTCTATCTTTAGATGGGGAAGACTTCCG>C	uc001rsm.3	-	1	198_228	c.107_137CGGAAGTCTTCCCCATCTAAAGATAGAAAGCG>G	c.(106-138)cggaagtcttccccatctaaagatagaaagcggfs	p.R36fs		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA.	36	Arg-rich.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.S39P(2)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TGAACGATGCCGCTTTCTATCTTTAGATGGGGAAGACTTCCGGTCCCGGTC	0.511													-	49239460	GCTTTCTATCTTTAGATGGGGAAGACTTCCG	-	49239430	7	5	140	1	0	1	0	1	0	0	0	0	4350	1086	38	0	2390	0	DDX23	12	49239430	Frame_Shift_Del	DEL	GCTTTCTATCTTTAGATGGGGAAGACTTCCG	TCGA-CD-5813-01A-11D-1600-08	22961978	49239430	84612465	127	79753											
ATP5B	506	broad.mit.edu	37	chr12	57037245	57037245	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatcatttcatggtataaaTcattgccttcacgggtcctc	6	11	4	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr12:57037245T>C	uc001slr.2	-	5	839	c.734A>G	c.(733-735)GAT>GGT	p.D245G		NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	245					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1						ATGGTATAAATCATTGCCTTC	0.428													C	57037245	T	C	57037245	3	2	140	1	0	0	0	0	1	0	0	0	1148	1435	50	3	879	3	ATP5B	12	57037245	Missense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08	7797815	57037245	76814650	128	79754											
NACA	4666	broad.mit.edu	37	chr12	57106973	57106973	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgggataaatcttcgAtctacagggtagaaaataca	9	7	2	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr12:57106973A>G	uc001slz.2	-	6	732	c.383T>C	c.(382-384)ATC>ACC	p.I128T	NACA_uc001sly.2_Missense_Mutation_p.I128T|NACA_uc009zoy.1_Missense_Mutation_p.I1991T|NACA_uc001smc.2_Missense_Mutation_p.I128T|NACA_uc001sma.2_Missense_Mutation_p.I838T|NACA_uc001smb.2_Missense_Mutation_p.I128T|NACA_uc010squ.1_RNA	NM_001113201	NP_001106672	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha	128	NAC-A/B.				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	p.I128M(1)		ovary(1)	1						TAAATCTTCGATCTACAGGGT	0.378			T	BCL6	NHL								G	57106973	A	G	57106973	3	3	140	1	0	0	0	0	1	0	0	0	10133	347	12	3	276	3	NACA	12	57106973	Missense_Mutation	SNP	A	TCGA-CD-5813-01A-11D-1600-08	69728	57106973	76744922	129	79755											
R3HDM2	22864	broad.mit.edu	37	chr12	57674203	57674204	+	In_Frame_Ins	INS	-	-	GTT													gtgggtgggagagcaggaagINSttgctgctgctgctgctgct							TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr12:57674202_57674203A>AGTT	uc009zpm.1	-	11	1275_1276	c.1240_1241T>AACT	c.(1240-1242)ctt>AACTt	p.L414N	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_In_Frame_Ins_p.L75N|R3HDM2_uc001snr.2_In_Frame_Ins_p.L141N|R3HDM2_uc001sns.2_In_Frame_Ins_p.L414N|R3HDM2_uc001snt.2_In_Frame_Ins_p.L428N	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	414	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAGAGCAGGAAGTtgctgctgc	0.574													GTT	57674204	-	GTT	57674203	7	5	140	1	0	1	1	0	0	0	0	0	12888	1029	36	0	1734	0	R3HDM2	12	57674203	In_Frame_Ins	INS	-	TCGA-CD-5813-01A-11D-1600-08	567230	57674203	76177692	130	79756											
CAND1	55832	broad.mit.edu	37	chr12	67675753	67675753	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatcaagttggatgatgaTagtgaaaggaaagtagtgaa	12	3	1	4			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr12:67675753T>C	uc001stn.2	+	2	569	c.132T>C	c.(130-132)GAT>GAC	p.D44D		NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	44	HEAT 2.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TGGATGATGATAGTGAAAGGA	0.284													C	67675753	T	C	67675753	2	2	140	1	0	0	0	0	0	0	0	1	2615	1403	49	3		3	CAND1	12	67675753	Silent	SNP	T	TCGA-CD-5813-01A-11D-1600-08	10001550	67675753	66176142	131	79757											
LRRIQ1	84125	broad.mit.edu	37	chr12	85500366	85500366	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaattgtctcttactggaaAcccacttcttcaagaaacaa	5	10	3	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr12:85500366A>C	uc001tac.2	+	15	3461	c.3350A>C	c.(3349-3351)AAC>ACC	p.N1117T	LRRIQ1_uc001tab.1_Missense_Mutation_p.N1117T	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1117	LRRCT.									ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		CTTACTGGAAACCCACTTCTT	0.333													C	85500366	A	C	85500366	3	2	140	1	0	0	0	0	1	0	0	0	9029	43	2	5	3404	5	LRRIQ1	12	85500366	Missense_Mutation	SNP	A	TCGA-CD-5813-01A-11D-1600-08	17824613	85500366	48351529	132	79758											
NR1H4	9971	broad.mit.edu	37	chr12	100897210	100897210	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatccaattcaaattagTcctcactgcagctgtacgcc	6	12	2	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr12:100897210T>C	uc001tht.1	+	1	73	c.45T>C	c.(43-45)AGT>AGC	p.S15S	NR1H4_uc001thp.1_Intron|NR1H4_uc001thq.1_Intron|NR1H4_uc010svj.1_Intron|NR1H4_uc001thr.1_Intron|NR1H4_uc010svk.1_Intron|NR1H4_uc001ths.1_Silent_p.S15S	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	15					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						TTCAAATTAGTCCTCACTGCA	0.448													C	100897210	T	C	100897210	2	2	140	1	0	0	0	0	0	0	0	1	10619	1682	58	3		3	NR1H4	12	100897210	Silent	SNP	T	TCGA-CD-5813-01A-11D-1600-08	15396844	100897210	32954685	133	79759											
IFT81	28981	broad.mit.edu	37	chr12	110600787	110600787	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggaggccaaggagaagTtagccagcctagagagagaa	14	7	1	3			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr12:110600787T>C	uc001tqi.2	+	11	1235	c.1105T>C	c.(1105-1107)TTA>CTA	p.L369L	IFT81_uc001tqh.2_Silent_p.L369L|IFT81_uc001tqj.2_RNA|IFT81_uc001tqg.2_Silent_p.L369L	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81-like isoform 1	369	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1						CAAGGAGAAGTTAGCCAGCCT	0.408													C	110600787	T	C	110600787	2	2	140	1	0	0	0	0	0	0	0	1	7565	1722	60	3		3	IFT81	12	110600787	Silent	SNP	T	TCGA-CD-5813-01A-11D-1600-08	9703577	110600787	23251108	134	79760											
RNF17	56163	broad.mit.edu	37	chr13	25367266	25367266	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgttacgatacataccCaccgctagaaaagaaaaagg	7	9	1	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr13:25367266C>G	uc001upr.2	+	10	1063	c.1022C>G	c.(1021-1023)CCA>CGA	p.P341R	RNF17_uc010tdd.1_Missense_Mutation_p.P200R|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.P341R|RNF17_uc001ups.2_Missense_Mutation_p.P280R|RNF17_uc001upq.1_Missense_Mutation_p.P341R	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	341					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GATACATACCCACCGCTAGAA	0.348													G	25367266	C	G	25367266	3	3	140	1	0	0	0	0	1	0	0	0	13461	594	21	5	1060	5	RNF17	13	25367266	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08		25367266	89802612	135	79761											
CPB2	1361	broad.mit.edu	37	chr13	46632517	46632517	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaactggatgcaccttcctCtgtaacgaaattgttaaggt	10	8	1	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr13:46632517C>T	uc001vaw.2	-	9	864	c.797_splice	c.e9-1	p.E266_splice	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Splice_Site_p.E229_splice	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a						blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GCACCTTCCTCTGTAACGAAA	0.428													T	46632517	C	T	46632517	5	4	140	1	0	0	0	0	0	0	1	0	3797	927	32	4	487	4	CPB2	13	46632517	Splice_Site	SNP	C	TCGA-CD-5813-01A-11D-1600-08	21265251	46632517	68537361	136	79762											
TMTC4	84899	broad.mit.edu	37	chr13	101266575	101266575	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagctttctgtacctgtaTtgtcgaggagtataatcatg	9	8	2	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr13:101266575T>C	uc001vou.2	-	15	2049	c.1889A>G	c.(1888-1890)AAT>AGT	p.N630S	TMTC4_uc001vot.2_Missense_Mutation_p.N649S|TMTC4_uc010tja.1_Missense_Mutation_p.N519S	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	630	TPR 6.					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGTACCTGTATTGTCGAGGAG	0.463													C	101266575	T	C	101266575	3	2	140	1	0	0	0	0	1	0	0	0	16260	1493	52	3	352	3	TMTC4	13	101266575	Missense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08	54634058	101266575	13903303	137	79763											
ARID4A	5926	broad.mit.edu	37	chr14	58811468	58811468	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcctccagcagctttataAgtttatggaagacagaggta	9	8	0	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr14:58811468A>C	uc001xdp.2	+	12	1216	c.962A>C	c.(961-963)AAG>ACG	p.K321T	ARID4A_uc001xdo.2_Missense_Mutation_p.K321T|ARID4A_uc001xdq.2_Missense_Mutation_p.K321T|ARID4A_uc010apg.1_5'UTR	NM_002892	NP_002883	P29374	ARI4A_HUMAN	retinoblastoma-binding protein 1 isoform I	321	ARID.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|lung(1)	6						CAGCTTTATAAGTTTATGGAA	0.328													C	58811468	A	C	58811468	3	2	140	1	0	0	0	0	1	0	0	0	919	72	3	5	1004	5	ARID4A	14	58811468	Missense_Mutation	SNP	A	TCGA-CD-5813-01A-11D-1600-08		58811468	48538072	138	79764											
C14orf115	55237	broad.mit.edu	37	chr14	74824989	74824989	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggggagctcctgccactaagGatgcccctgtcccgttggca	13	14	0	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr14:74824989G>T	uc001xpw.3	+	2	1694	c.1503G>T	c.(1501-1503)AGG>AGT	p.R501S		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	501					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		TGCCACTAAGGATGCCCCTGT	0.672													T	74824989	G	T	74824989	3	4	140	1	0	0	0	0	1	0	0	0	1740	1165	41	5	1505	5	C14orf115	14	74824989	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	16013521	74824989	32524551	139	79765											
DYNC1H1	1778	broad.mit.edu	37	chr14	102507909	102507909	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacccctctgtacctgtttcAgcacccattggccaggccat	7	17	2	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr14:102507909A>G	uc001yks.2	+	65	12106	c.11942_splice	c.e65-2	p.T3981_splice		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1						cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TACCTGTTTCAGCACCCATTG	0.587													G	102507909	A	G	102507909	5	3	140	1	0	0	0	0	0	0	1	0	4841	202	7	3	12198	3	DYNC1H1	14	102507909	Splice_Site	SNP	A	TCGA-CD-5813-01A-11D-1600-08	27682920	102507909	4841631	140	79766											
APBA2	321	broad.mit.edu	37	chr15	29346923	29346923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccccagcaggcacgaggCgaggcccaagtcgctgaacc	13	16	0	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr15:29346923C>T	uc001zck.2	+	3	1043	c.836C>T	c.(835-837)GCG>GTG	p.A279V	APBA2_uc010azj.2_Missense_Mutation_p.A279V|APBA2_uc010uat.1_Missense_Mutation_p.A279V|APBA2_uc001zcl.2_Missense_Mutation_p.A279V|APBA2_uc010uas.1_Missense_Mutation_p.A279V	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	279					nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGGCACGAGGCGAGGCCCAAG	0.667													T	29346923	C	T	29346923	3	4	140	1	0	0	0	0	1	0	0	0	757	768	27	1	838	1	APBA2	15	29346923	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08		29346923	73184469	141	79767											
TRPM1	4308	broad.mit.edu	37	chr15	31355442	31355442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaagacgatggacaccaCgttagggcccccctccacca	8	17	0	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr15:31355442C>T	uc001zfm.2	-	7	906	c.778G>A	c.(778-780)GTG>ATG	p.V260M	TRPM1_uc010azy.2_Missense_Mutation_p.V173M|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	260	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ATGGACACCACGTTAGGGCCC	0.607													T	31355442	C	T	31355442	3	4	140	1	0	0	0	0	1	0	0	0	16582	536	19	1	4117	1	TRPM1	15	31355442	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	2008519	31355442	71175950	142	79768											
RYR3	6263	broad.mit.edu	37	chr15	34105725	34105725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaactgttatcaaagcaaCggaaacgggcagtggtggcc	12	9	1	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr15:34105725C>T	uc001zhi.2	+	74	10517	c.10447C>T	c.(10447-10449)CGG>TGG	p.R3483W	RYR3_uc010bar.2_Missense_Mutation_p.R3478W	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3483					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R3483W(1)		ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCAAAGCAACGGAAACGGGC	0.512													T	34105725	C	T	34105725	3	4	140	1	0	0	0	0	1	0	0	0	13770	527	19	1	10741	1	RYR3	15	34105725	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	2750283	34105725	68425667	143	79769											
SLC12A6	9990	broad.mit.edu	37	chr15	34543254	34543254	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggtaattactccaaagAttctctgcagtgggaaaaat	10	6	1	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr15:34543254A>T	uc001zhw.2	-	10	1502	c.1338T>A	c.(1336-1338)AAT>AAA	p.N446K	SLC12A6_uc001zhv.2_Missense_Mutation_p.N395K|SLC12A6_uc001zhx.2_Missense_Mutation_p.N431K|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.N387K|SLC12A6_uc001zib.2_Missense_Mutation_p.N437K|SLC12A6_uc001zic.2_Missense_Mutation_p.N446K|SLC12A6_uc010bau.2_Missense_Mutation_p.N446K|SLC12A6_uc001zid.2_Missense_Mutation_p.N387K|SLC12A6_uc001zht.2_5'Flank|SLC12A6_uc001zhu.2_Missense_Mutation_p.N258K	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	446	Cytoplasmic (Potential).				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TACTCCAAAGATTCTCTGCAG	0.368													T	34543254	A	T	34543254	3	4	140	1	0	0	0	0	1	0	0	0	14387	330	12	5	2178	5	SLC12A6	15	34543254	Missense_Mutation	SNP	A	TCGA-CD-5813-01A-11D-1600-08	437529	34543254	67988138	144	79770											
LCMT2	9836	broad.mit.edu	37	chr15	43621774	43621774	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagctgccagaatgaaataaTgggcgcacttcagatgccac	10	10	1	3			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr15:43621774T>C	uc001zrg.2	-	1	1118	c.914A>G	c.(913-915)CAT>CGT	p.H305R	LCMT2_uc010udn.1_5'UTR|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	305					tRNA processing		methyltransferase activity|protein binding				0		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	AATGAAATAATGGGCGCACTT	0.498													C	43621774	T	C	43621774	3	2	140	1	0	0	0	0	1	0	0	0	8679	1464	51	3	1150	3	LCMT2	15	43621774	Missense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08	9078520	43621774	58909618	145	79771											
MYO1E	4643	broad.mit.edu	37	chr15	59506484	59506484	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtttttcattaacaaaAttgatacaaaactgttcaaa	4	6	2	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr15:59506484A>C	uc002aga.2	-	12	1590	c.1218T>G	c.(1216-1218)AAT>AAG	p.N406K		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	406	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)		CATTAACAAAATTGATACAAA	0.289													C	59506484	A	C	59506484	3	2	140	1	0	0	0	0	1	0	0	0	10072	98	4	5	2176	5	MYO1E	15	59506484	Missense_Mutation	SNP	A	TCGA-CD-5813-01A-11D-1600-08	15884710	59506484	43024908	146	79772											
CORO2B	10391	broad.mit.edu	37	chr15	69011828	69011828	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaggctcccatcaaagaaaaGaagagtgttgtggtcaacgg	12	7	2	3			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr15:69011828G>T	uc002arj.3	+	11	1277	c.1248G>T	c.(1246-1248)AAG>AAT	p.K416N	CORO2B_uc010bic.2_Missense_Mutation_p.K411N|CORO2B_uc002ark.2_Missense_Mutation_p.K183N	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	416					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			ovary(3)|skin(2)|large_intestine(1)	6						TCAAAGAAAAGAAGAGTGTTG	0.423													T	69011828	G	T	69011828	3	4	140	1	0	0	0	0	1	0	0	0	3757	933	33	5	1290	5	CORO2B	15	69011828	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	9505344	69011828	33519564	147	79773											
MYO9A	4649	broad.mit.edu	37	chr15	72338496	72338496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgtggaagaaaaccccGttccatcatcctgcgacgtt	10	12	1	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr15:72338496G>A	uc002atl.3	-	2	882	c.409C>T	c.(409-411)CGG>TGG	p.R137W	MYO9A_uc010biq.2_Intron|MYO9A_uc002ato.2_Missense_Mutation_p.R137W|MYO9A_uc002atn.1_Missense_Mutation_p.R137W	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	137					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						AGAAAACCCCGTTCCATCATC	0.428													A	72338496	G	A	72338496	3	1	140	1	0	0	0	0	1	0	0	0	10084	1144	40	1	7401	1	MYO9A	15	72338496	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	3326668	72338496	30192896	148	79774											
CSPG4	1464	broad.mit.edu	37	chr15	75980816	75980816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgactgcctctgaggcacGtgctgtggccccataggtca	12	14	2	1	rs140979403		TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr15:75980816G>A	uc002baw.2	-	3	2683	c.2590C>T	c.(2590-2592)CGT>TGT	p.R864C		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	864	CSPG 4.|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						TCTGAGGCACGTGCTGTGGCC	0.577													A	75980816	G	A	75980816	3	1	140	1	0	0	0	0	1	0	0	0	3960	1145	40	1	4410	1	CSPG4	15	75980816	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	3642320	75980816	26550576	149	79775											
C16orf42	115939	broad.mit.edu	37	chr16	1400082	1400082	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcctcctgggggctcTccttggcattggccaagaac	10	15	2	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr16:1400082T>C	uc002cll.2	-	4	748	c.680A>G	c.(679-681)GAG>GGG	p.E227G	GNPTG_uc002clm.2_5'Flank	NM_001001410	NP_001001410	Q9UJK0	TSR3_HUMAN	hypothetical protein LOC115939	227					rRNA processing						0		Hepatocellular(780;0.0893)				CTGGGGGCTCTCCTTGGCATT	0.662													C	1400082	T	C	1400082	3	2	140	1	0	0	0	0	1	0	0	0	1813	1551	54	3	270	3	C16orf42	16	1400082	Missense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08		1400082	88954671	150	79776											
ATXN2L	11273	broad.mit.edu	37	chr16	28844803	28844803	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accctaatgctaaggagttcAatcctacaaagcctctgctg	7	12	2	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr16:28844803A>T	uc002drc.2	+	15	2167	c.1999A>T	c.(1999-2001)AAT>TAT	p.N667Y	uc010vct.1_Intron|ATXN2L_uc002drb.2_Missense_Mutation_p.N667Y|ATXN2L_uc002dqy.2_Missense_Mutation_p.N667Y|ATXN2L_uc002dra.2_Missense_Mutation_p.N667Y|ATXN2L_uc002dqz.2_Missense_Mutation_p.N667Y|ATXN2L_uc010vdb.1_Missense_Mutation_p.N673Y|ATXN2L_uc002dre.2_Missense_Mutation_p.N667Y|ATXN2L_uc002drf.2_Missense_Mutation_p.N76Y|ATXN2L_uc002drg.2_5'Flank	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	667						membrane				upper_aerodigestive_tract(1)|ovary(1)	2						TAAGGAGTTCAATCCTACAAA	0.473													T	28844803	A	T	28844803	3	4	140	1	0	0	0	0	1	0	0	0	1212	130	5	5	2057	5	ATXN2L	16	28844803	Missense_Mutation	SNP	A	TCGA-CD-5813-01A-11D-1600-08	27444721	28844803	61509950	151	79777											
KCTD19	146212	broad.mit.edu	37	chr16	67325250	67325250	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaccaccttggctgtgaTggctttggggtccttttgcc	14	10	0	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr16:67325250T>C	uc002esu.2	-	14	2578	c.2527A>G	c.(2527-2529)ATC>GTC	p.I843V	KCTD19_uc002est.2_Missense_Mutation_p.I615V|KCTD19_uc010vjj.1_Missense_Mutation_p.I586V	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	843						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TTGGCTGTGATGGCTTTGGGG	0.552													C	67325250	T	C	67325250	3	2	140	1	0	0	0	0	1	0	0	0	8106	1464	51	3	265	3	KCTD19	16	67325250	Missense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08	38480447	67325250	23029503	152	79778											
FAM65A	79567	broad.mit.edu	37	chr16	67573777	67573777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtccattgaacgcttcctgcGacgactggagttccatgcca	10	13	0	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr16:67573777G>A	uc010vjp.1	+	6	545	c.449G>A	c.(448-450)CGA>CAA	p.R150Q	FAM65A_uc010cei.1_5'UTR|FAM65A_uc002eth.2_Missense_Mutation_p.R130Q|FAM65A_uc010cej.2_Missense_Mutation_p.R133Q|FAM65A_uc002eti.1_Missense_Mutation_p.R93Q|FAM65A_uc010vjq.1_Missense_Mutation_p.R144Q|FAM65A_uc002etj.1_Missense_Mutation_p.R129Q|FAM65A_uc002etk.2_Missense_Mutation_p.R129Q	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	134						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CGCTTCCTGCGACGACTGGAG	0.617													A	67573777	G	A	67573777	3	1	140	1	0	0	0	0	1	0	0	0	5599	1058	37	1	407	1	FAM65A	16	67573777	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	248527	67573777	22780976	153	79779											
CDH1	999	broad.mit.edu	37	chr16	68845760	68845760	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaccactgggctggaccgaGaggtcaggggtcaggaggat	17	9	3	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr16:68845760G>A	uc002ewg.1	+	7	1130	c.1006G>A	c.(1006-1008)GAG>AAG	p.E336K	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.E336K	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	336	Cadherin 2.|Extracellular (Potential).		E -> D.		adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.E336E(1)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GCTGGACCGAGAGGTCAGGGG	0.507			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				A	68845760	G	A	68845760	3	1	140	1	0	0	0	0	1	0	0	0	3095	943	33	4	1032	4	CDH1	16	68845760	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	1271983	68845760	21508993	154	79780											
CYB5B	80777	broad.mit.edu	37	chr16	69458604	69458604	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agtatgtccggttcaatggcGactgcggaagctagcggcag	15	9	1	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr16:69458604G>T	uc002exg.1	+	1	107	c.18G>T	c.(16-18)GCG>GCT	p.A6A	CYB5B_uc002exf.2_Silent_p.A6A|CYB5B_uc010cfl.1_Silent_p.A6A	NM_030579	NP_085056	O43169	CYB5B_HUMAN	cytochrome b5 outer mitochondrial membrane	2					electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding				0		Ovarian(137;0.101)				GTTCAATGGCGACTGCGGAAG	0.582													T	69458604	G	T	69458604	2	4	140	1	0	0	0	0	0	0	0	1	4123	1045	37	5		5	CYB5B	16	69458604	Silent	SNP	G	TCGA-CD-5813-01A-11D-1600-08	612844	69458604	20896149	155	79781											
DHX38	9785	broad.mit.edu	37	chr16	72139930	72139930	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccccaggattggcatggaTgctctgcagatctatcccat	9	12	2	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr16:72139930T>C	uc002fcb.2	+	19	2869	c.2514T>C	c.(2512-2514)GAT>GAC	p.D838D	DHX38_uc010vmp.1_Silent_p.D150D	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	838	Helicase C-terminal.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)				TTGGCATGGATGCTCTGCAGA	0.587													C	72139930	T	C	72139930	2	2	140	1	0	0	0	0	0	0	0	1	4511	1461	51	3		3	DHX38	16	72139930	Silent	SNP	T	TCGA-CD-5813-01A-11D-1600-08	2681326	72139930	18214823	156	79782											
IRF8	3394	broad.mit.edu	37	chr16	85948116	85948116	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtacaccacctacgacgcGcaccattcaggtacggggtg	13	13	1	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr16:85948116G>A	uc002fjh.2	+	6	648	c.591G>A	c.(589-591)GCG>GCA	p.A197A	IRF8_uc010chp.2_Intron	NM_002163	NP_002154	Q02556	IRF8_HUMAN	interferon regulatory factor 8	197			A -> T (in a breast cancer sample; somatic mutation).		interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.A197T(1)		breast(2)|ovary(1)	3		Prostate(104;0.0771)				CCTACGACGCGCACCATTCAG	0.607													A	85948116	G	A	85948116	2	1	140	1	0	0	0	0	0	0	0	1	7836	1074	38	1		1	IRF8	16	85948116	Silent	SNP	G	TCGA-CD-5813-01A-11D-1600-08	13808186	85948116	4406637	157	79783											
ZNF594	84622	broad.mit.edu	37	chr17	5086827	5086827	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagccttcccacatttaTtgcataaatatggcttcccc	5	12	0	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr17:5086827T>C	uc010cla.1	-	2	881	c.725A>G	c.(724-726)AAT>AGT	p.N242S		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	242	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						CCCACATTTATTGCATAAATA	0.428													C	5086827	T	C	5086827	3	2	140	1	0	0	0	0	1	0	0	0	18021	1493	52	3	1702	3	ZNF594	17	5086827	Missense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08		5086827	76108383	158	79784											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	9	16	3	0	rs28934574		TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr17:7577094G>A	uc002gim.2	-	8	1038	c.844C>T	c.(844-846)CGG>TGG	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	282	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7577094	G	A	7577094	3	1	140	1	0	0	0	0	1	0	0	0	16378	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	2490267	7577094	73618116	159	79785											
KSR1	8844	broad.mit.edu	37	chr17	25932711	25932711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcgcctgctggagatggaCggccacaaccaggaccacct	11	14	0	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr17:25932711C>T	uc010crg.2	+	15	1966	c.1521C>T	c.(1519-1521)GAC>GAT	p.D507D	KSR1_uc002gzj.1_RNA|KSR1_uc002gzm.2_Silent_p.D286D	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras	642	Protein kinase.				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TGGAGATGGACGGCCACAACC	0.652													T	25932711	C	T	25932711	2	4	140	1	0	0	0	0	0	0	0	1	8581	535	19	1		1	KSR1	17	25932711	Silent	SNP	C	TCGA-CD-5813-01A-11D-1600-08	18355617	25932711	55262499	160	79786											
SLC25A39	51629	broad.mit.edu	37	chr17	42397752	42397752	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccatcgctcccagagcgAcctggcgttgggtctttacc	10	16	1	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr17:42397752A>G	uc002ign.2	-	10	1008	c.854T>C	c.(853-855)GTC>GCC	p.V285A	SLC25A39_uc002igm.2_Missense_Mutation_p.V277A|SLC25A39_uc002igo.2_Missense_Mutation_p.V277A|SLC25A39_uc010wiw.1_Missense_Mutation_p.V262A|SLC25A39_uc010czu.2_Missense_Mutation_p.V153A	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39 isoform a	285	Solcar 3.				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				upper_aerodigestive_tract(1)	1		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCCCAGAGCGACCTGGCGTTG	0.662													G	42397752	A	G	42397752	3	3	140	1	0	0	0	0	1	0	0	0	14503	275	10	3	237	3	SLC25A39	17	42397752	Missense_Mutation	SNP	A	TCGA-CD-5813-01A-11D-1600-08	16465041	42397752	38797458	161	79787											
COL1A1	1277	broad.mit.edu	37	chr17	48265261	48265261	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggccagggggaccctggagGccagagaagccacggtgacc	18	12	0	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr17:48265261G>T	uc002iqm.2	-	45	3471	c.3345C>A	c.(3343-3345)GGC>GGA	p.G1115G		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	1115	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	GACCCTGGAGGCCAGAGAAGC	0.632			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						T	48265261	G	T	48265261	2	4	140	1	0	0	0	0	0	0	0	1	3677	1190	42	5		5	COL1A1	17	48265261	Silent	SNP	G	TCGA-CD-5813-01A-11D-1600-08	5867509	48265261	32929949	162	79788											
MYCBPAP	84073	broad.mit.edu	37	chr17	48600347	48600347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctttgaaaccctagaaggCgagaaaacctcctcagaact	7	12	1	4			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr17:48600347C>T	uc010wmr.1	+	11	1596	c.1434C>T	c.(1432-1434)GGC>GGT	p.G478G	MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	441					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCCTAGAAGGCGAGAAAACCT	0.512													T	48600347	C	T	48600347	2	4	140	1	0	0	0	0	0	0	0	1	10019	755	27	1		1	MYCBPAP	17	48600347	Silent	SNP	C	TCGA-CD-5813-01A-11D-1600-08	335086	48600347	32594863	163	79789											
ABCA8	10351	broad.mit.edu	37	chr17	66883510	66883511	+	Frame_Shift_Ins	INS	-	-	T													ttattgtaagtagcatgtctINStcgaagtttgaaatgtagct							TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr17:66883509_66883510C>CT	uc002jhq.3	-	24	3622_3623	c.3282_3283G>AG	c.(3280-3285)gaagacfs	p.E1094fs	ABCA8_uc002jhp.3_Frame_Shift_Ins_p.E1054fs|ABCA8_uc010wqq.2_Frame_Shift_Ins_p.E1094fs|ABCA8_uc010wqr.2_Frame_Shift_Ins_p.E1033fs	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1054						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGTAGCATGTCTTCGAAGTTTG	0.342													T	66883511	-	T	66883510	7	5	140	1	0	1	1	0	0	0	0	0	38	1606	56	0	1647	0	ABCA8	17	66883510	Frame_Shift_Ins	INS	-	TCGA-CD-5813-01A-11D-1600-08	18283163	66883510	14311700	164	79790											
ASXL3	80816	broad.mit.edu	37	chr18	31226286	31226286	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggatggtacagatatggcCgaggcaaatgcccatggaga	14	7	0	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr18:31226286C>T	uc010dmg.1	+	4	379	c.324C>T	c.(322-324)GCC>GCT	p.A108A	ASXL3_uc002kxq.2_5'UTR	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						CAGATATGGCCGAGGCAAATG	0.388													T	31226286	C	T	31226286	2	4	140	1	0	0	0	0	0	0	0	1	1068	639	23	1		1	ASXL3	18	31226286	Silent	SNP	C	TCGA-CD-5813-01A-11D-1600-08		31226286	46850962	165	79791											
NOL4	8715	broad.mit.edu	37	chr18	31685107	31685107	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accgcttctcttggtaggaaGgcatagctctctgaaatctg	10	10	3	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr18:31685107G>C	uc010dmi.2	-	3	661	c.432C>G	c.(430-432)GCC>GCG	p.A144A	NOL4_uc002kxr.3_5'UTR|NOL4_uc010xbt.1_Silent_p.A70A|NOL4_uc010dmh.2_Silent_p.A70A|NOL4_uc010xbu.1_Silent_p.A144A|NOL4_uc002kxt.3_Silent_p.A144A|NOL4_uc010xbw.1_Silent_p.A30A	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	144						nucleolus	RNA binding			ovary(3)	3						TTGGTAGGAAGGCATAGCTCT	0.373													C	31685107	G	C	31685107	2	2	140	1	0	0	0	0	0	0	0	1	10524	987	35	5		5	NOL4	18	31685107	Silent	SNP	G	TCGA-CD-5813-01A-11D-1600-08	458821	31685107	46392141	166	79792											
ELP2	55250	broad.mit.edu	37	chr18	33725918	33725918	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttattttttagatggtgtCctacagcagccagtgagatt	9	6	0	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr18:33725918C>T	uc002kzk.1	+	10	910	c.900C>T	c.(898-900)GTC>GTT	p.V300V	ELP2_uc010xcg.1_Silent_p.V365V|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Silent_p.V274V|ELP2_uc010xch.1_Silent_p.V339V|ELP2_uc002kzn.1_Silent_p.V274V|ELP2_uc002kzo.1_Silent_p.V230V	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	300	WD 6.				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4						TAGATGGTGTCCTACAGCAGC	0.373													T	33725918	C	T	33725918	2	4	140	1	0	0	0	0	0	0	0	1	5080	842	30	4		4	ELP2	18	33725918	Silent	SNP	C	TCGA-CD-5813-01A-11D-1600-08	2040811	33725918	44351330	167	79793											
NARS	4677	broad.mit.edu	37	chr18	55270137	55270137	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaagattggttcattaatGgtgtctgtcatcagtctctc	9	8	5	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr18:55270137G>A	uc002lgs.2	-	12	1518	c.1290C>T	c.(1288-1290)ACC>ACT	p.T430T	NARS_uc002lgt.2_Silent_p.T429T|NARS_uc010xea.1_Silent_p.T181T	NM_004539	NP_004530	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	430					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding				0		Colorectal(73;0.227)			L-Asparagine(DB00174)	GTTCATTAATGGTGTCTGTCA	0.443													A	55270137	G	A	55270137	2	1	140	1	0	0	0	0	0	0	0	1	10170	1335	47	4		4	NARS	18	55270137	Silent	SNP	G	TCGA-CD-5813-01A-11D-1600-08	21544219	55270137	22807111	168	79794											
KIAA1543	57662	broad.mit.edu	37	chr19	7673088	7673088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccagcctccaggacctggCcagtggggccgcgctggccg	16	16	0	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr19:7673088C>T	uc002mgv.3	+	5	799	c.698C>T	c.(697-699)GCC>GTC	p.A233V	KIAA1543_uc002mgu.3_Missense_Mutation_p.A260V	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	233	CH.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						CAGGACCTGGCCAGTGGGGCC	0.637													T	7673088	C	T	7673088	3	4	140	1	0	0	0	0	1	0	0	0	8243	739	26	2	805	2	KIAA1543	19	7673088	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08		7673088	51455895	169	79795											
ZNF708	7562	broad.mit.edu	37	chr19	21476317	21476317	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatgagaggacagaataaagCttttgccacattcttcacac	8	9	2	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr19:21476317C>G	uc002npq.1	-	4	1649	c.1451G>C	c.(1450-1452)AGC>ACC	p.S484T	ZNF708_uc002npr.1_Missense_Mutation_p.S420T|ZNF708_uc010ecs.1_Missense_Mutation_p.S420T	NM_021269	NP_067092	P17019	ZN708_HUMAN	zinc finger protein 708	484	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(4)|skin(2)	6						CAGAATAAAGCTTTTGCCACA	0.338													G	21476317	C	G	21476317	3	3	140	1	0	0	0	0	1	0	0	0	18109	797	28	5	244	5	ZNF708	19	21476317	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	13803229	21476317	37652666	170	79796											
ERF	2077	broad.mit.edu	37	chr19	42752808	42752808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtcttcactccagcgccGcttaaagcgtagcttgaggg	11	12	2	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr19:42752808G>A	uc002ote.3	-	4	1614	c.1456C>T	c.(1456-1458)CGG>TGG	p.R486W	ERF_uc002otd.3_Missense_Mutation_p.R217W	NM_006494	NP_006485	P50548	ERF_HUMAN	Ets2 repressor factor	486					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4		Prostate(69;0.00682)				CTCCAGCGCCGCTTAAAGCGT	0.682													A	42752808	G	A	42752808	3	1	140	1	0	0	0	0	1	0	0	0	5221	1086	38	1	194	1	ERF	19	42752808	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	21276491	42752808	16376175	171	79797											
RELB	5971	broad.mit.edu	37	chr19	45540895	45540895	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtggttggggagaccccCggccctgaaccactgacact	13	15	0	3			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr19:45540895C>T	uc002paj.1	+	13	1713	c.1587C>T	c.(1585-1587)CCC>CCT	p.P529P	SFRS16_uc002pak.2_5'Flank|SFRS16_uc002pal.2_5'Flank|SFRS16_uc010xxh.1_5'Flank|SFRS16_uc002pam.2_5'Flank|SFRS16_uc002pan.1_5'Flank	NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B	529						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GGGAGACCCCCGGCCCTGAAC	0.677													T	45540895	C	T	45540895	2	4	140	1	0	0	0	0	0	0	0	1	13217	639	23	1		1	RELB	19	45540895	Silent	SNP	C	TCGA-CD-5813-01A-11D-1600-08	2788087	45540895	13588088	172	79798											
RSPH6A	81492	broad.mit.edu	37	chr19	46303761	46303761	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggagcgcacaacggccactGagtactgcgggcagaggctg	16	11	0	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr19:46303761G>A	uc002pdm.2	-	5	2002	c.1859C>T	c.(1858-1860)TCA>TTA	p.S620L	RSPH6A_uc002pdl.2_Missense_Mutation_p.S356L	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	620	Glu-rich.					intracellular				ovary(1)|central_nervous_system(1)	2						AACGGCCACTGAGTACTGCGG	0.652													A	46303761	G	A	46303761	3	1	140	1	0	0	0	0	1	0	0	0	13707	1294	45	4	302	4	RSPH6A	19	46303761	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	762866	46303761	12825222	173	79799											
LIG1	3978	broad.mit.edu	37	chr19	48626468	48626468	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaactcggcgatctgctcGatgtccttggtgtccaggga	14	10	1	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr19:48626468G>A	uc002pia.1	-	22	2232	c.2112C>T	c.(2110-2112)ATC>ATT	p.I704I	LIG1_uc010xze.1_Silent_p.I397I|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Silent_p.I636I|LIG1_uc010xzg.1_Silent_p.I673I	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	704					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CGATCTGCTCGATGTCCTTGG	0.617								NER					A	48626468	G	A	48626468	2	1	140	1	0	0	0	0	0	0	0	1	8781	1048	37	1		1	LIG1	19	48626468	Silent	SNP	G	TCGA-CD-5813-01A-11D-1600-08	2322707	48626468	10502515	174	79800											
PRMT1	3276	broad.mit.edu	37	chr19	50189487	50189487	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgctgccacaagaggacCggcttctccaccagtgaggc	11	15	1	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr19:50189487C>T	uc010enf.1	+	9	939	c.897C>T	c.(895-897)ACC>ACT	p.T299T	PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Silent_p.T275T|PRMT1_uc002ppe.2_Silent_p.T281T|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Silent_p.T246T|PRMT1_uc010yba.1_RNA|PRMT1_uc010ybb.1_5'Flank|C19orf76_uc002pph.2_5'Flank	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	HMT1 hnRNP methyltransferase-like 2 isoform 1	280						cytoplasm	protein methyltransferase activity			ovary(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		ACAAGAGGACCGGCTTCTCCA	0.507													T	50189487	C	T	50189487	2	4	140	1	0	0	0	0	0	0	0	1	12535	639	23	1		1	PRMT1	19	50189487	Silent	SNP	C	TCGA-CD-5813-01A-11D-1600-08	1563019	50189487	8939496	175	79801											
ZNF615	284370	broad.mit.edu	37	chr19	52496341	52496341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtaataagatcatttttgCgcaaagagaattttccacat	7	6	1	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr19:52496341C>T	uc002pye.1	-	6	2280	c.1988G>A	c.(1987-1989)CGC>CAC	p.R663H	ZNF615_uc002pyf.1_Missense_Mutation_p.R674H|ZNF615_uc002pyg.1_Missense_Mutation_p.R555H|ZNF615_uc002pyh.1_Missense_Mutation_p.R674H|ZNF615_uc010epi.1_Missense_Mutation_p.R670H|ZNF615_uc010ydg.1_Missense_Mutation_p.R668H	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	663	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ATCATTTTTGCGCAAAGAGAA	0.408													T	52496341	C	T	52496341	3	4	140	1	0	0	0	0	1	0	0	0	18037	768	27	1	211	1	ZNF615	19	52496341	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	2306854	52496341	6632642	176	79802											
NLRP12	91662	broad.mit.edu	37	chr19	54304551	54304551	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccccgaggtcccccaGctcattcaggctcaggtcca	9	18	3	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr19:54304551G>T	uc002qch.3	-	7	2906	c.2686C>A	c.(2686-2688)CTG>ATG	p.L896M	NLRP12_uc010eqw.2_Missense_Mutation_p.L179M|NLRP12_uc002qci.3_Missense_Mutation_p.L896M|NLRP12_uc002qcj.3_Missense_Mutation_p.L897M|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	896	LRR 3.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGGTCCCCCAGCTCATTCAGG	0.622													T	54304551	G	T	54304551	3	4	140	1	0	0	0	0	1	0	0	0	10474	962	34	5	515	5	NLRP12	19	54304551	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	1808210	54304551	4824432	177	79803											
NLRP2	55655	broad.mit.edu	37	chr19	55493754	55493754	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagaaactaatgctagacTgggcagaggacaacctcatc	9	12	1	3			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr19:55493754T>G	uc002qij.2	+	6	774	c.688T>G	c.(688-690)TGG>GGG	p.W230G	NLRP2_uc010yfp.1_Missense_Mutation_p.W207G|NLRP2_uc010esn.2_Missense_Mutation_p.W206G|NLRP2_uc010eso.2_Missense_Mutation_p.W227G|NLRP2_uc010esp.2_Missense_Mutation_p.W208G	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	230	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AATGCTAGACTGGGCAGAGGA	0.572													G	55493754	T	G	55493754	3	3	140	1	0	0	0	0	1	0	0	0	10477	1580	55	5	706	5	NLRP2	19	55493754	Missense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08	1189203	55493754	3635229	178	79804											
BRSK1	84446	broad.mit.edu	37	chr19	55816953	55816953	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	catcgtccatgcctttctgtCggtgaggggcctgggtcccc	13	14	1	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr19:55816953C>G	uc002qkg.2	+	16	2166	c.1889C>G	c.(1888-1890)TCG>TGG	p.S630W	BRSK1_uc002qkf.2_Missense_Mutation_p.S646W|BRSK1_uc002qkh.2_Missense_Mutation_p.S325W	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	630					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCCTTTCTGTCGGTGAGGGGC	0.557													G	55816953	C	G	55816953	3	3	140	1	0	0	0	0	1	0	0	0	1523	898	31	5	1951	5	BRSK1	19	55816953	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	323199	55816953	3312030	179	79805											
ZNF154	7710	broad.mit.edu	37	chr19	58213860	58213860	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctttctgtagtgagggttcTctgctgctgaacaagtgtgt	12	7	3	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr19:58213860T>A	uc010euf.2	-	3	697	c.457A>T	c.(457-459)AGA>TGA	p.R153*	ZNF776_uc002qpx.2_Intron|ZNF154_uc002qpy.2_RNA	NM_001085384	NP_001078853	Q13106	ZN154_HUMAN	zinc finger protein 154	153	C2H2-type 2; degenerate.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGAGGGTTCTCTGCTGCTGA	0.448													A	58213860	T	A	58213860	4	1	140	1	0	0	0	0	0	1	0	0	17732	1559	54	5	860	5	ZNF154	19	58213860	Nonsense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08	2396907	58213860	915123	180	79806											
C20orf26	26074	broad.mit.edu	37	chr20	20079326	20079326	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacagctgttgggttcatgAgtgtgtgctcaagagtgaac	14	7	2	3			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr20:20079326A>C	uc002wru.2	+	8	803	c.727A>C	c.(727-729)AGT>CGT	p.S243R	C20orf26_uc010gcw.1_Missense_Mutation_p.S197R|C20orf26_uc010zse.1_Missense_Mutation_p.S243R|C20orf26_uc010zsf.1_Missense_Mutation_p.S243R	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	243										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		TGGGTTCATGAGTGTGTGCTC	0.368													C	20079326	A	C	20079326	3	2	140	1	0	0	0	0	1	0	0	0	2106	304	11	5	753	5	C20orf26	20	20079326	Missense_Mutation	SNP	A	TCGA-CD-5813-01A-11D-1600-08		20079326	42946194	181	79807											
SEMG1	6406	broad.mit.edu	37	chr20	43836886	43836886	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcccaaagcagtatttatagCcaaactgaagagaaagcaca	7	9	0	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr20:43836886C>G	uc002xni.2	+	2	1005	c.948C>G	c.(946-948)AGC>AGG	p.S316R	SEMG1_uc002xnj.2_Intron|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.S316R	NM_003007	NP_002998	P04279	SEMG1_HUMAN	semenogelin I preproprotein	316	58 AA repeat 1.				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(2)	2		Myeloproliferative disorder(115;0.0122)				GTATTTATAGCCAAACTGAAG	0.368													G	43836886	C	G	43836886	3	3	140	1	0	0	0	0	1	0	0	0	14044	738	26	5	954	5	SEMG1	20	43836886	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08	23757560	43836886	19188634	182	79808											
TPTE	7179	broad.mit.edu	37	chr21	10996084	10996084	+	RNA	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttttctgatcacagatctTttggttttcccttgcccagt	6	11	4	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr21:10996084T>A	uc002yis.1	-	12		c.2102A>T						P56180	TPTE_HUMAN	Homo sapiens putative tyrosine phosphatase mRNA, complete cds.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCACAGATCTTTTGGTTTTCC	0.368													A	10996084	T	A	10996084	1	1	140	0	1	0	0	0	0	0	0	0	16427	1856	64	5		5	TPTE	21	10996084	RNA	SNP	T	TCGA-CD-5813-01A-11D-1600-08		10996084	37133811	183	79809											
SAMSN1	64092	broad.mit.edu	37	chr21	15858410	15858410	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctcaaggataggggctcAggttcattttcttgctcttg	12	8	5	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr21:15858410A>G	uc002yju.1	-	8	1027	c.945T>C	c.(943-945)CCT>CCC	p.P315P	SAMSN1_uc010gky.1_Silent_p.P147P|SAMSN1_uc002yjv.1_Silent_p.P383P	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization	315					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			ovary(3)|pancreas(1)	4				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ATAGGGGCTCAGGTTCATTTT	0.388													G	15858410	A	G	15858410	2	3	140	1	0	0	0	0	0	0	0	1	13830	175	7	3		3	SAMSN1	21	15858410	Silent	SNP	A	TCGA-CD-5813-01A-11D-1600-08	4862326	15858410	32271485	184	79810											
DOPEY2	9980	broad.mit.edu	37	chr21	37603142	37603142	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgggagcccaagcccaTcactgtgcctcagttcaagc	9	15	4	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr21:37603142T>A	uc002yvg.2	+	14	2139	c.2060T>A	c.(2059-2061)ATC>AAC	p.I687N	DOPEY2_uc011aeb.1_Missense_Mutation_p.I687N	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	687					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						CCCAAGCCCATCACTGTGCCT	0.557													A	37603142	T	A	37603142	3	1	140	1	0	0	0	0	1	0	0	0	4708	1435	50	5	2110	5	DOPEY2	21	37603142	Missense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08	21744732	37603142	10526753	185	79811											
COL18A1	80781	broad.mit.edu	37	chr21	46900409	46900409	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacatggagggatctggctTcgggggcgatctggaggccc	18	9	2	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr21:46900409T>C	uc011afs.1	+	11	2693	c.2672T>C	c.(2671-2673)TTC>TCC	p.F891S	COL18A1_uc002zhg.2_Missense_Mutation_p.F476S|COL18A1_uc002zhi.2_Missense_Mutation_p.F656S	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	891	Nonhelical region 3 (NC3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGATCTGGCTTCGGGGGCGAT	0.637													C	46900409	T	C	46900409	3	2	140	1	0	0	0	0	1	0	0	0	3675	1783	62	3	2828	3	COL18A1	21	46900409	Missense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08	9297267	46900409	1229486	186	79812											
YDJC	150223	broad.mit.edu	37	chr22	21982820	21982820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgcacgccatcctgggCaagctgggcccgcagcgtgg	15	14	0	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr22:21982820C>T	uc002zvb.2	-	5	896	c.859G>A	c.(859-861)GCC>ACC	p.A287T	YDJC_uc002zvc.2_RNA|YDJC_uc002zvd.2_3'UTR	NM_001017964	NP_001017964	A8MPS7	YDJC_HUMAN	YdjC homolog	287					carbohydrate metabolic process		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds				0	Colorectal(54;0.105)					CCATCCTGGGCAAGCTGGGCC	0.687													T	21982820	C	T	21982820	3	4	140	1	0	0	0	0	1	0	0	0	17468	710	25	2	116	2	YDJC	22	21982820	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08		21982820	29321746	187	79813											
FBXO7	25793	broad.mit.edu	37	chr22	32894361	32894361	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcctggtcctggggagacGcccagccagtttcctccact	10	15	0	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr22:32894361G>A	uc003amq.2	+	9	1696	c.1413G>A	c.(1411-1413)ACG>ACA	p.T471T	FBXO7_uc003amr.2_Silent_p.T357T|FBXO7_uc003ams.2_Silent_p.T315T|FBXO7_uc003amt.2_Silent_p.T392T|FBXO7_uc003amu.2_Silent_p.T357T|FBXO7_uc003amv.2_Silent_p.T170T	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	F-box only protein 7 isoform 1	471					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)	1						CTGGGGAGACGCCCAGCCAGT	0.557													A	32894361	G	A	32894361	2	1	140	1	0	0	0	0	0	0	0	1	5760	1074	38	1		1	FBXO7	22	32894361	Silent	SNP	G	TCGA-CD-5813-01A-11D-1600-08	10911541	32894361	18410205	188	79814											
TCF20	6942	broad.mit.edu	37	chr22	42609403	42609403	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaccattgctaggtggccTttgagtggctgcaggatcat	12	11	1	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr22:42609403T>G	uc003bcj.1	-	1	2043	c.1909A>C	c.(1909-1911)AGG>CGG	p.R637R	TCF20_uc003bck.1_Silent_p.R637R|TCF20_uc003bnt.2_Silent_p.R637R	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	637					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						CTAGGTGGCCTTTGAGTGGCT	0.552													G	42609403	T	G	42609403	2	3	140	1	0	0	0	0	0	0	0	1	15687	1608	56	5		5	TCF20	22	42609403	Silent	SNP	T	TCGA-CD-5813-01A-11D-1600-08	9715042	42609403	8695163	189	79815											
TCF20	6942	broad.mit.edu	37	chr22	42611293	42611293	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttccgtggtaactgctttGctcccgaaaggactgcatac	10	11	0	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chr22:42611293G>A	uc003bcj.1	-	1	153	c.19C>T	c.(19-21)CAA>TAA	p.Q7*	TCF20_uc003bck.1_Nonsense_Mutation_p.Q7*|TCF20_uc003bnt.2_Nonsense_Mutation_p.Q7*	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						TAACTGCTTTGCTCCCGAAAG	0.517													A	42611293	G	A	42611293	4	1	140	1	0	0	0	0	0	1	0	0	15687	1328	46	2	5901	2	TCF20	22	42611293	Nonsense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	1890	42611293	8693273	190	79816											
MXRA5	25878	broad.mit.edu	37	chrX	3238447	3238447	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctggaataacttttctctctCtcattactggggcaggagaa	9	9	3	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chrX:3238447C>A	uc004crg.3	-	5	5436	c.5279G>T	c.(5278-5280)AGA>ATA	p.R1760I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1760						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTTTCTCTCTCTCATTACTGG	0.502													A	3238447	C	A	3238447	3	1	140	1	0	0	0	0	1	0	0	0	10003	913	32	5	3219	5	MXRA5	23	3238447	Missense_Mutation	SNP	C	TCGA-CD-5813-01A-11D-1600-08		3238447	152032113	191	79817											
ASB11	140456	broad.mit.edu	37	chrX	15315756	15315756	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacctccaaggcatgcctcGtggagagaagacacccggtt	12	12	0	3			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chrX:15315756G>T	uc004cwp.1	-	3	309	c.309C>A	c.(307-309)CAC>CAA	p.H103Q	ASB11_uc004cwo.1_Missense_Mutation_p.H82Q|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Intron	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box-containing protein	103	ANK 2.				intracellular signal transduction					breast(2)|skin(1)	3	Hepatocellular(33;0.183)					GGCATGCCTCGTGGAGAGAAG	0.433													T	15315756	G	T	15315756	3	4	140	1	0	0	0	0	1	0	0	0	1015	1136	40	5	682	5	ASB11	23	15315756	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	12077309	15315756	139954804	192	79818											
PHEX	5251	broad.mit.edu	37	chrX	22050995	22050995	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgaggggagatttcctgaCggcagtttcttaagctgtcc	14	9	1	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chrX:22050995C>T	uc004dah.2	+	1	75	c.-128C>T	c.(-130--126)GACGG>GATGG		PHEX_uc011mjr.1_Translation_Start_Site	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase						biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3						GATTTCCTGACGGCAGTTTCT	0.438													T	22050995	C	T	22050995	1	4	140	1	0	0	0	0	0	0	0	0	11819	551	19	1		1	PHEX	23	22050995	Translation_Start_Site	SNP	C	TCGA-CD-5813-01A-11D-1600-08	6735239	22050995	133219565	193	79819											
ZCCHC16	340595	broad.mit.edu	37	chrX	111698562	111698562	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagagtgtcactgatatgatGgacaatcttccagacctgat	10	8	2	5			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chrX:111698562G>T	uc004epo.1	+	3	1047	c.606G>T	c.(604-606)ATG>ATT	p.M202I		NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	202							nucleic acid binding|zinc ion binding			ovary(1)	1						CTGATATGATGGACAATCTTC	0.468													T	111698562	G	T	111698562	3	4	140	1	0	0	0	0	1	0	0	0	17581	1348	47	5	608	5	ZCCHC16	23	111698562	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	89647567	111698562	43571998	194	79820											
KIAA1210	57481	broad.mit.edu	37	chrX	118221772	118221772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgcctcaatagcagcccGctcgaaatttgaggacagtt	10	11	2	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chrX:118221772G>A	uc004era.3	-	11	3421	c.3421C>T	c.(3421-3423)CGG>TGG	p.R1141W		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	1141										ovary(4)|skin(1)	5						ATAGCAGCCCGCTCGAAATTT	0.468													A	118221772	G	A	118221772	3	1	140	1	0	0	0	0	1	0	0	0	8214	1086	38	1	1724	1	KIAA1210	23	118221772	Missense_Mutation	SNP	G	TCGA-CD-5813-01A-11D-1600-08	6523210	118221772	37048788	195	79821											
C1GALT1C1	29071	broad.mit.edu	37	chrX	119760150	119760150	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctaaggcggtataccccaTacatcatcacatgcatctga	6	14	3	1			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chrX:119760150T>C	uc004esy.2	-	3	1219	c.872A>G	c.(871-873)TAT>TGT	p.Y291C	C1GALT1C1_uc004esz.2_Missense_Mutation_p.Y291C	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	291	Lumenal (Potential).					integral to membrane					0						GTATACCCCATACATCATCAC	0.418													C	119760150	T	C	119760150	3	2	140	1	0	0	0	0	1	0	0	0	1953	1406	49	3	88	3	C1GALT1C1	23	119760150	Missense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08	1538378	119760150	35510410	196	79822											
XIAP	331	broad.mit.edu	37	chrX	123019704	123019704	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagataccgtgcggtgcttTagttgtcatgcagctgtaga	14	7	1	2			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chrX:123019704T>G	uc010nqu.2	+	2	318	c.192T>G	c.(190-192)TTT>TTG	p.F64L	XIAP_uc004etx.2_Missense_Mutation_p.F64L|XIAP_uc010nqv.2_Intron	NM_001167	NP_001158	P98170	XIAP_HUMAN	baculoviral IAP repeat-containing protein 4	64	BIR 1.				anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			ovary(1)|lung(1)	2						TGCGGTGCTTTAGTTGTCATG	0.433									X-linked_Lymphoproliferative_syndrome				G	123019704	T	G	123019704	3	3	140	1	0	0	0	0	1	0	0	0	17425	1751	61	5	194	5	XIAP	23	123019704	Missense_Mutation	SNP	T	TCGA-CD-5813-01A-11D-1600-08	3259554	123019704	32250856	197	79823											
CXorf40B	541578	broad.mit.edu	37	chrX	149101841	149101841	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtacattgtcacttaccCgctatcactcctcgaccaaa	5	14	2	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chrX:149101841C>T	uc004fdy.2	-	4	768	c.252G>A	c.(250-252)GCG>GCA	p.A84A	CXorf40B_uc011mxs.1_RNA	NM_001013845	NP_001013867	Q96DE9	CX04B_HUMAN	hypothetical protein LOC541578	84											0	Acute lymphoblastic leukemia(192;6.56e-05)					GTCACTTACCCGCTATCACTC	0.532													T	149101841	C	T	149101841	2	4	140	1	0	0	0	0	0	0	0	1	4109	666	23	1		1	CXorf40B	23	149101841	Silent	SNP	C	TCGA-CD-5813-01A-11D-1600-08	26082137	149101841	6168719	198	79824											
FLNA	2316	broad.mit.edu	37	chrX	153594996	153594996	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggttcttgtcgttattggcGgtcacttttgcctgcagtgg	13	9	2	0			TCGA-CD-5813-01A-11D-1600-08	TCGA-CD-5813-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a778f73-34b4-41f5-a6eb-26fe3fc275d3	291659ca-12d2-4907-8c16-0b3b8b2b294c	g.chrX:153594996G>A	uc004fkk.2	-	7	1248	c.999C>T	c.(997-999)ACC>ACT	p.T333T	FLNA_uc010nuu.1_Silent_p.T333T	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	333	Filamin 1.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGTTATTGGCGGTCACTTTTG	0.627													A	153594996	G	A	153594996	2	1	140	1	0	0	0	0	0	0	0	1	5933	1103	39	1		1	FLNA	23	153594996	Silent	SNP	G	TCGA-CD-5813-01A-11D-1600-08	4493155	153594996	1675564	199	79825											
CSMD2	114784	broad.mit.edu	37	chr1	34008458	34008458	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcactgaacacaactcGggcattacttggagtcccag	9	13	1	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:34008458G>A	uc001bxn.1	-	57	8736	c.8707C>T	c.(8707-8709)CGA>TGA	p.R2903*	CSMD2_uc001bxm.1_Nonsense_Mutation_p.R3047*	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2903	Sushi 21.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AACACAACTCGGGCATTACTT	0.512													A	34008458	G	A	34008458	4	1	141	1	0	0	0	0	0	1	0	0	3945	1124	39	1	1808	1	CSMD2	1	34008458	Nonsense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08		34008458	215242163	1	79826											
NDUFS5	4725	broad.mit.edu	37	chr1	39500125	39500125	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gataaaggaaggaaagtacaCccctccacctcaccacattg	7	13	1	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:39500125C>G	uc001ccx.2	+	3	349	c.278C>G	c.(277-279)ACC>AGC	p.T93S	NDUFS5_uc001ccy.2_Missense_Mutation_p.T93S	NM_004552	NP_004543	O43920	NDUS5_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 5,	93					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)		NADH(DB00157)	GGAAAGTACACCCCTCCACCT	0.512													G	39500125	C	G	39500125	3	3	141	1	0	0	0	0	1	0	0	0	10295	507	18	5	284	5	NDUFS5	1	39500125	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	5491667	39500125	209750496	2	79827											
SYT6	148281	broad.mit.edu	37	chr1	114682479	114682479	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagggactggaggcctccttGttcctccagggcatccagca	13	13	0	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:114682479G>C	uc001eev.2	-	2	265	c.15C>G	c.(13-15)AAC>AAG	p.N5K		NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN	synaptotagmin VI	90	Cytoplasmic (Potential).				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCCTCCTTGTTCCTCCAGG	0.572													C	114682479	G	C	114682479	3	2	141	1	0	0	0	0	1	0	0	0	15475	1368	48	5	1286	5	SYT6	1	114682479	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	75182354	114682479	134568142	3	79828											
SETDB1	9869	broad.mit.edu	37	chr1	150900360	150900361	+	Missense_Mutation	DNP	GC	GC	AA													gatggattgtgtacagcaacGcaagaagcagctagcagagt							TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:150900360_150900361GC>AA	uc001evu.2	+	2	360_361	c.170_171GC>AA	c.(169-171)CGC>CAA	p.R57Q	SETDB1_uc009wmf.2_Missense_Mutation_p.R57Q|SETDB1_uc001evv.2_Missense_Mutation_p.R57Q|SETDB1_uc001evw.3_Missense_Mutation_p.R57Q|SETDB1_uc009wmg.1_Missense_Mutation_p.R57Q	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	57	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTACAGCAACGCAAGAAGCAGC	0.48													AA	150900361	GC	AA	150900360	3	1	141	1	0	0	0	0	1	0	0	0	14138	1087	38	1	172	1	SETDB1	1	150900360	Missense_Mutation	DNP	GC	TCGA-CD-8524-01A-11D-2340-08	36217881	150900360	98350261	4	79829											
TCHH	7062	broad.mit.edu	37	chr1	152080373	152080373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggagctgttcctcctcgcGgaattttctgtcgcgctcct	11	14	1	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:152080373G>A	uc001ezp.2	-	2	5320	c.5320C>T	c.(5320-5322)CGC>TGC	p.R1774C	TCHH_uc009wne.1_Missense_Mutation_p.R1774C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1774	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCCTCGCGGAATTTTCTG	0.597													A	152080373	G	A	152080373	3	1	141	1	0	0	0	0	1	0	0	0	15697	1116	39	1	515	1	TCHH	1	152080373	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	1180013	152080373	97170248	5	79830											
LMNA	4000	broad.mit.edu	37	chr1	156106743	156106743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaattggcagatcaagcGccagaatggagatgatccct	13	9	1	4			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:156106743G>A	uc001fni.2	+	8	1661	c.1412G>A	c.(1411-1413)CGC>CAC	p.R471H	LMNA_uc001fnf.1_Missense_Mutation_p.R471H|LMNA_uc001fng.2_Missense_Mutation_p.R471H|LMNA_uc001fnh.2_Missense_Mutation_p.R471H|LMNA_uc009wro.1_Missense_Mutation_p.R471H|LMNA_uc010pgz.1_Missense_Mutation_p.R359H|LMNA_uc001fnj.2_Missense_Mutation_p.R390H|LMNA_uc001fnk.2_Missense_Mutation_p.R372H|LMNA_uc009wrp.2_3'UTR|LMNA_uc010pha.1_Missense_Mutation_p.R127H	NM_170707	NP_733821	P02545	LMNA_HUMAN	lamin A/C isoform 1 precursor	471	Tail.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity|structural molecule activity			ovary(2)	2	Hepatocellular(266;0.158)					CAGATCAAGCGCCAGAATGGA	0.582									Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome				A	156106743	G	A	156106743	3	1	141	1	0	0	0	0	1	0	0	0	8848	1087	38	1	1442	1	LMNA	1	156106743	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	4026370	156106743	93143878	6	79831											
OR10T2	128360	broad.mit.edu	37	chr1	158368662	158368662	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgctgaggctaaataaagCcagctctttcacatgggtgt	11	8	2	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:158368662C>A	uc010pih.1	-	1	595	c.595G>T	c.(595-597)GCT>TCT	p.A199S		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T,	199	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					CTAAATAAAGCCAGCTCTTTC	0.448													A	158368662	C	A	158368662	3	1	141	1	0	0	0	0	1	0	0	0	10919	739	26	5	351	5	OR10T2	1	158368662	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	2261919	158368662	90881959	7	79832											
ADCY10	55811	broad.mit.edu	37	chr1	167847720	167847720	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cccaatactgatacaatggtCcagaatctgcaacacctttc	5	13	1	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:167847720C>A	uc001ger.2	-	12	1668	c.1370G>T	c.(1369-1371)GGA>GTA	p.G457V	ADCY10_uc009wvk.2_Missense_Mutation_p.G365V|ADCY10_uc010plj.1_Missense_Mutation_p.G304V|ADCY10_uc009wvl.2_Missense_Mutation_p.G456V	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	457					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						ATACAATGGTCCAGAATCTGC	0.403													A	167847720	C	A	167847720	3	1	141	1	0	0	0	0	1	0	0	0	293	855	30	5	3550	5	ADCY10	1	167847720	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	9479058	167847720	81402901	8	79833											
C1orf156	92342	broad.mit.edu	37	chr1	169762816	169762816	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccagatggtcttctatagtGaaattaaactgaaaggtcat	8	6	3	3			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:169762816G>A	uc001ggn.2	-	2	299	c.21C>T	c.(19-21)TTC>TTT	p.F7F	C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_5'Flank|uc010plt.1_5'Flank|C1orf112_uc001ggp.2_5'Flank|C1orf112_uc001ggq.2_5'Flank|C1orf112_uc009wvt.2_5'Flank	NM_033418	NP_219486	O95568	MET18_HUMAN	hypothetical protein MGC9084	7						cytoplasm	protein methyltransferase activity				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTCTATAGTGAAATTAAACT	0.358													A	169762816	G	A	169762816	2	1	141	1	0	0	0	0	0	0	0	1	2006	1281	45	4		4	C1orf156	1	169762816	Silent	SNP	G	TCGA-CD-8524-01A-11D-2340-08	1915096	169762816	79487805	9	79834											
ASTN1	460	broad.mit.edu	37	chr1	176926896	176926896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttatctttgctgcagtcgCgcaccggcccaaaggaatct	10	13	2	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:176926896C>T	uc001glc.2	-	11	2017	c.1805G>A	c.(1804-1806)CGC>CAC	p.R602H	ASTN1_uc001glb.1_Missense_Mutation_p.R602H|ASTN1_uc001gld.1_Missense_Mutation_p.R602H|ASTN1_uc009wwx.1_Missense_Mutation_p.R602H	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	610	EGF-like 2.				cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						GCTGCAGTCGCGCACCGGCCC	0.552													T	176926896	C	T	176926896	3	4	141	1	0	0	0	0	1	0	0	0	1064	768	27	1	2135	1	ASTN1	1	176926896	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	7164080	176926896	72323725	10	79835											
PGBD5	79605	broad.mit.edu	37	chr1	230472930	230472930	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgtagttcttgcctgcCgcgttccggcacaggctcct	11	13	1	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:230472930C>T	uc010pwb.1	-	4	792	c.792G>A	c.(790-792)GCG>GCA	p.A264A	PGBD5_uc001htv.2_Silent_p.A363A	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	264						integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TCTTGCCTGCCGCGTTCCGGC	0.577													T	230472930	C	T	230472930	2	4	141	1	0	0	0	0	0	0	0	1	11784	639	23	1		1	PGBD5	1	230472930	Silent	SNP	C	TCGA-CD-8524-01A-11D-2340-08	53546034	230472930	18777691	11	79836											
RYR2	6262	broad.mit.edu	37	chr1	237586436	237586436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacagccattccgactacGccatgtcacaacaggaaaat	9	12	1	0	rs35041432		TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:237586436G>A	uc001hyl.1	+	12	1013	c.893G>A	c.(892-894)CGC>CAC	p.R298H		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	298	Cytoplasmic (By similarity).|MIR 4.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCCGACTACGCCATGTCACA	0.428													A	237586436	G	A	237586436	3	1	141	1	0	0	0	0	1	0	0	0	13769	1087	38	1	939	1	RYR2	1	237586436	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	7113506	237586436	11664185	12	79837											
RYR2	6262	broad.mit.edu	37	chr1	237947447	237947447	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atgggaagcgccaaacgcatCgagagggtctattttgaaat	12	7	1	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:237947447C>A	uc001hyl.1	+	90	12555	c.12435C>A	c.(12433-12435)ATC>ATA	p.I4145I	RYR2_uc010pya.1_Silent_p.I560I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4145					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCAAACGCATCGAGAGGGTCT	0.498													A	237947447	C	A	237947447	2	1	141	1	0	0	0	0	0	0	0	1	13769	874	31	5		5	RYR2	1	237947447	Silent	SNP	C	TCGA-CD-8524-01A-11D-2340-08	361011	237947447	11303174	13	79838											
OR2M3	127062	broad.mit.edu	37	chr1	248367138	248367138	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtactatggagcagctttgTtcatgtacatacggcccaca	9	10	1	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:248367138T>G	uc010pzg.1	+	1	769	c.769T>G	c.(769-771)TTC>GTC	p.F257V		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	257	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGCAGCTTTGTTCATGTACAT	0.493													G	248367138	T	G	248367138	3	3	141	1	0	0	0	0	1	0	0	0	11011	1725	60	5	771	5	OR2M3	1	248367138	Missense_Mutation	SNP	T	TCGA-CD-8524-01A-11D-2340-08	10419691	248367138	883483	14	79839											
NTSR2	23620	broad.mit.edu	37	chr2	11800223	11800223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcctgcgggcatggtacGgcagccagcagatgacatac	14	11	0	3	rs139725500		TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:11800223G>A	uc002rbq.3	-	3	1009	c.935C>T	c.(934-936)CCG>CTG	p.P312L		NM_012344	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	312	Helical; Name=6; (Potential).				sensory perception	integral to plasma membrane					0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GGCATGGTACGGCAGCCAGCA	0.562													A	11800223	G	A	11800223	3	1	141	1	0	0	0	0	1	0	0	0	10711	1116	39	1	305	1	NTSR2	2	11800223	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08		11800223	231399150	15	79840											
SNX17	9784	broad.mit.edu	37	chr2	27598553	27598553	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccgggtcacccgcatgCgatgctggcgggtcacctcc	12	17	2	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:27598553C>T	uc002rkg.1	+	10	1177	c.955C>T	c.(955-957)CGA>TGA	p.R319*	SNX17_uc010ylj.1_Nonsense_Mutation_p.R299*|SNX17_uc010ylk.1_Nonsense_Mutation_p.R105*|SNX17_uc010eza.1_Nonsense_Mutation_p.R105*|SNX17_uc002rki.1_RNA|SNX17_uc002rkh.1_Nonsense_Mutation_p.R105*|SNX17_uc010yll.1_Nonsense_Mutation_p.R105*|SNX17_uc010ylm.1_Nonsense_Mutation_p.R105*|SNX17_uc010yln.1_Nonsense_Mutation_p.R307*|SNX17_uc010ylo.1_Nonsense_Mutation_p.R237*|SNX17_uc010ylp.1_Nonsense_Mutation_p.R294*|SNX17_uc010ylq.1_Nonsense_Mutation_p.R105*	NM_014748	NP_055563	Q15036	SNX17_HUMAN	sorting nexin 17	319					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCCGCATGCGATGCTGGCG	0.672													T	27598553	C	T	27598553	4	4	141	1	0	0	0	0	0	1	0	0	14888	760	27	1	993	1	SNX17	2	27598553	Nonsense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	15798330	27598553	215600820	16	79841											
LTBP1	4052	broad.mit.edu	37	chr2	33589410	33589410	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaaagatgtatacgaccGgctgagtcaaacggtatgtt	11	6	1	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:33589410G>A	uc002ros.2	+	30	4530	c.4530G>A	c.(4528-4530)CCG>CCA	p.P1510P	LTBP1_uc002rot.2_Silent_p.P1184P|LTBP1_uc002rou.2_Silent_p.P1183P|LTBP1_uc002rov.2_Silent_p.P1130P|LTBP1_uc010ymz.1_Silent_p.P1141P|LTBP1_uc010yna.1_Silent_p.P1088P|LTBP1_uc010ynb.1_Silent_p.P407P	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1509					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTATACGACCGGCTGAGTCAA	0.403													A	33589410	G	A	33589410	2	1	141	1	0	0	0	0	0	0	0	1	9073	1103	39	1		1	LTBP1	2	33589410	Silent	SNP	G	TCGA-CD-8524-01A-11D-2340-08	5990857	33589410	209609963	17	79842											
PSME4	23198	broad.mit.edu	37	chr2	54120866	54120874	+	In_Frame_Del	DEL	AATGATAGA	AATGATAGA	-													cttttccttttctgtcttctAatgatagaaaagtaattaac							TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:54120865_54120873TAATGATAGA>T	uc002rxp.2	-	34	4032_4040	c.3976_3984TCTATCATTA>A	c.(3976-3984)ctatcatta>A	p.LSL1326del	PSME4_uc010yop.1_In_Frame_Del_p.LSL1212del|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_In_Frame_Del_p.LSL701del|PSME4_uc010fbv.1_In_Frame_Del_p.LSL470del	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1326					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTCTGTCTTCTAATGATAGAAAAGTAATT	0.278													-	54120874	AATGATAGA	-	54120866	7	5	141	1	0	1	0	1	0	0	0	0	12709	372	13	0	1596	0	PSME4	2	54120866	In_Frame_Del	DEL	AATGATAGA	TCGA-CD-8524-01A-11D-2340-08	20531456	54120866	189078507	18	79843											
PEX13	5194	broad.mit.edu	37	chr2	61259050	61259050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctttacagacggctacagCggatgttaggtttaagaaga	11	6	1	3			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:61259050C>T	uc002sau.3	+	2	672	c.589C>T	c.(589-591)CGG>TGG	p.R197W		NM_002618	NP_002609	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	197	Targeting to peroxisomes.|Lumenal (Potential).				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			ACGGCTACAGCGGATGTTAGG	0.453													T	61259050	C	T	61259050	3	4	141	1	0	0	0	0	1	0	0	0	11741	759	27	1	595	1	PEX13	2	61259050	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	7138184	61259050	181940323	19	79844											
GYPC	2995	broad.mit.edu	37	chr2	127413868	127413868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgagaagccccaacagcaCggcgtggcctctcagcctcg	12	16	1	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:127413868C>T	uc002tnq.2	+	1	185	c.29C>T	c.(28-30)ACG>ATG	p.T10M	GYPC_uc002tnr.2_Missense_Mutation_p.T10M|GYPC_uc010flv.2_RNA|GYPC_uc010flw.1_Missense_Mutation_p.T10M	NM_002101	NP_002092	P04921	GLPC_HUMAN	glycophorin C isoform 1	10	Extracellular.					cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)	1	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		CCCAACAGCACGGCGTGGCCT	0.637													T	127413868	C	T	127413868	3	4	141	1	0	0	0	0	1	0	0	0	6910	536	19	1	31	1	GYPC	2	127413868	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	66154818	127413868	115785505	20	79845											
LRP1B	53353	broad.mit.edu	37	chr2	141243057	141243057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttttccaatccaatcgaCagcaagtgcattggggaccg	10	10	0	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:141243057C>T	uc002tvj.1	-	59	10252	c.9280G>A	c.(9280-9282)GTC>ATC	p.V3094I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3094	Extracellular (Potential).|LDL-receptor class B 28.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCCAATCGACAGCAAGTGCA	0.378										TSP Lung(27;0.18)			T	141243057	C	T	141243057	3	4	141	1	0	0	0	0	1	0	0	0	8955	478	17	4	4651	4	LRP1B	2	141243057	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	13829189	141243057	101956316	21	79846											
GALNT13	114805	broad.mit.edu	37	chr2	155115621	155115621	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcaggaatggatatctgGggtggagagaatcttgaaat	15	3	2	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:155115621G>A	uc002tyr.3	+	8	1512	c.945G>A	c.(943-945)TGG>TGA	p.W315*	GALNT13_uc002tyt.3_Nonsense_Mutation_p.W315*|GALNT13_uc010foc.1_Nonsense_Mutation_p.W134*|GALNT13_uc010fod.2_Nonsense_Mutation_p.W68*	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	315	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						TGGATATCTGGGGTGGAGAGA	0.383													A	155115621	G	A	155115621	4	1	141	1	0	0	0	0	0	1	0	0	6211	1241	43	4	967	4	GALNT13	2	155115621	Nonsense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	13872564	155115621	88083752	22	79847											
SCN1A	6323	broad.mit.edu	37	chr2	166848014	166848014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggtggcgtctgtaagcaCgctgaataatgacagcagat	12	7	1	3	rs3749029		TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:166848014C>T	uc010zcz.1	-	26	5756	c.5738G>A	c.(5737-5739)CGT>CAT	p.R1913H		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1924						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTGTAAGCACGCTGAATAAT	0.388													T	166848014	C	T	166848014	3	4	141	1	0	0	0	0	1	0	0	0	13914	536	19	1	262	1	SCN1A	2	166848014	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	11732393	166848014	76351359	23	79848											
TTN	7273	broad.mit.edu	37	chr2	179473038	179473038	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acattggctttcaaggcattCagaaggcttttgttgacacg	10	8	2	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:179473038C>G	uc010zfg.1	-	224	45092	c.44868G>C	c.(44866-44868)CTG>CTC	p.L14956L	uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L8651L|TTN_uc010zfi.1_Silent_p.L8584L|TTN_uc010zfj.1_Silent_p.L8459L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15883							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAAGGCATTCAGAAGGCTTT	0.428													G	179473038	C	G	179473038	2	3	141	1	0	0	0	0	0	0	0	1	16732	813	29	5		5	TTN	2	179473038	Silent	SNP	C	TCGA-CD-8524-01A-11D-2340-08	12625024	179473038	63726335	24	79849											
TTN	7273	broad.mit.edu	37	chr2	179482698	179482698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtctcttaattcaatgaCgtagtttgtgatctcagcac	7	9	3	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:179482698C>T	uc010zfg.1	-	202	39900	c.39676G>A	c.(39676-39678)GTC>ATC	p.V13226I	TTN_uc010zfh.1_Missense_Mutation_p.V6921I|TTN_uc010zfi.1_Missense_Mutation_p.V6854I|TTN_uc010zfj.1_Missense_Mutation_p.V6729I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14153							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTCAATGACGTAGTTTGTG	0.453													T	179482698	C	T	179482698	3	4	141	1	0	0	0	0	1	0	0	0	16732	536	19	1	60753	1	TTN	2	179482698	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	9660	179482698	63716675	25	79850											
TTN	7273	broad.mit.edu	37	chr2	179640548	179640548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagacttgagctccacagCggtaatggcttcataatagc	10	10	1	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:179640548C>T	uc010zfg.1	-	28	6267	c.6043G>A	c.(6043-6045)GCT>ACT	p.A2015T	TTN_uc010zfh.1_Missense_Mutation_p.A1969T|TTN_uc010zfi.1_Missense_Mutation_p.A1969T|TTN_uc010zfj.1_Missense_Mutation_p.A1969T|TTN_uc002unb.2_Missense_Mutation_p.A2015T|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2015							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTCCACAGCGGTAATGGCT	0.453													T	179640548	C	T	179640548	3	4	141	1	0	0	0	0	1	0	0	0	16732	768	27	1	105285	1	TTN	2	179640548	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	157850	179640548	63558825	26	79851											
ERBB4	2066	broad.mit.edu	37	chr2	212251665	212251665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggggcaaacacggtggGgtcagcactgtacctctggg	15	10	3	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:212251665G>A	uc002veg.1	-	27	3492	c.3394C>T	c.(3394-3396)CCC>TCC	p.P1132S	ERBB4_uc002veh.1_Missense_Mutation_p.P1116S|ERBB4_uc010zji.1_Missense_Mutation_p.P1122S|ERBB4_uc010zjj.1_Missense_Mutation_p.P1106S	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1132	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AACACGGTGGGGTCAGCACTG	0.532										TSP Lung(8;0.080)			A	212251665	G	A	212251665	3	1	141	1	0	0	0	0	1	0	0	0	5209	1232	43	4	540	4	ERBB4	2	212251665	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	32611117	212251665	30947708	27	79852											
SMARCAL1	50485	broad.mit.edu	37	chr2	217297484	217297484	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgctgctcgctgacgacAtgggcctggggaagaccatc	14	13	0	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:217297484A>G	uc002vgc.3	+	8	1708	c.1378A>G	c.(1378-1380)ATG>GTG	p.M460V	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.M460V|SMARCAL1_uc010fvg.2_Missense_Mutation_p.M460V	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	460	Helicase ATP-binding.|ATP (By similarity).				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CGCTGACGACATGGGCCTGGG	0.602									Schimke_Immuno-Osseous_Dysplasia				G	217297484	A	G	217297484	3	3	141	1	0	0	0	0	1	0	0	0	14773	217	8	3	1400	3	SMARCAL1	2	217297484	Missense_Mutation	SNP	A	TCGA-CD-8524-01A-11D-2340-08	5045819	217297484	25901889	28	79853											
PTPRN	5798	broad.mit.edu	37	chr2	220162661	220162661	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggccccagggctgccagGcgctccttgtcttgctgccg	13	16	2	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:220162661G>A	uc002vkz.2	-	13	1922	c.1833C>T	c.(1831-1833)CGC>CGT	p.R611R	PTPRN_uc010zlc.1_Silent_p.R521R|PTPRN_uc002vla.2_Silent_p.R582R	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	611	Cytoplasmic (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGGCTGCCAGGCGCTCCTTGT	0.642													A	220162661	G	A	220162661	2	1	141	1	0	0	0	0	0	0	0	1	12807	1190	42	2		2	PTPRN	2	220162661	Silent	SNP	G	TCGA-CD-8524-01A-11D-2340-08	2865177	220162661	23036712	29	79854											
ARMC9	80210	broad.mit.edu	37	chr2	232141438	232141438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactgcctgtctgactacaCgctggagtactcggtggctt	12	11	1	2	rs116712981	byFrequency	TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:232141438C>T	uc002vrq.3	+	15	1536	c.1424C>T	c.(1423-1425)ACG>ATG	p.T475M	ARMC9_uc002vrp.3_Missense_Mutation_p.T475M|ARMC9_uc002vrr.1_RNA	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	475							binding			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TCTGACTACACGCTGGAGTAC	0.562													T	232141438	C	T	232141438	3	4	141	1	0	0	0	0	1	0	0	0	958	536	19	1	1478	1	ARMC9	2	232141438	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	11978777	232141438	11057935	30	79855											
UGT1A10	54575	broad.mit.edu	37	chr2	234545590	234545590	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaatacttaaaggagagttCttttgatgcagtgtttctgg	11	4	2	3			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:234545590C>A	uc002vur.2	+	1	468	c.422C>A	c.(421-423)TCT>TAT	p.S141Y	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.S141Y	NM_019075	NP_061948	Q9HAW8	UD110_HUMAN	UDP glycosyltransferase 1 family, polypeptide	141					flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding			ovary(2)|skin(1)	3		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		AAGGAGAGTTCTTTTGATGCA	0.373													A	234545590	C	A	234545590	3	1	141	1	0	0	0	0	1	0	0	0	16942	913	32	5	424	5	UGT1A10	2	234545590	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	2404152	234545590	8653783	31	79856											
KLHL30	377007	broad.mit.edu	37	chr2	239049766	239049766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcagaaggtctgcggccGctacctgcagcagcaactgg	15	12	1	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:239049766G>A	uc002vxr.1	+	1	350	c.317G>A	c.(316-318)CGC>CAC	p.R106H		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	kelch-like 30	124											0		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GTCTGCGGCCGCTACCTGCAG	0.677													A	239049766	G	A	239049766	3	1	141	1	0	0	0	0	1	0	0	0	8384	1087	38	1	373	1	KLHL30	2	239049766	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	4504176	239049766	4149607	32	79857											
SCN5A	6331	broad.mit.edu	37	chr3	38651357	38651357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccatgaagagctgcaggcCgatgagggcaaagacgctga	15	10	0	5			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr3:38651357C>T	uc003cio.2	-	7	996	c.802G>A	c.(802-804)GGC>AGC	p.G268S	SCN5A_uc003cin.2_Missense_Mutation_p.G268S|SCN5A_uc003cil.3_Missense_Mutation_p.G268S|SCN5A_uc010hhi.2_Missense_Mutation_p.G268S|SCN5A_uc010hhk.2_Missense_Mutation_p.G268S|SCN5A_uc011ayr.1_Missense_Mutation_p.G268S|SCN5A_uc010hhl.1_Missense_Mutation_p.G91S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	268	Helical; Name=S5 of repeat I; (Potential).				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGCTGCAGGCCGATGAGGGCA	0.602													T	38651357	C	T	38651357	3	4	141	1	0	0	0	0	1	0	0	0	13922	652	23	1	5336	1	SCN5A	3	38651357	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08		38651357	159371073	33	79858											
GRM2	2912	broad.mit.edu	37	chr3	51749144	51749144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttggtgatggtattggccGctacaacatcttcacctatc	8	11	2	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr3:51749144G>A	uc010hlv.2	+	4	1594	c.1355G>A	c.(1354-1356)CGC>CAC	p.R452H	GRM2_uc003dbo.3_5'UTR|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	452	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GGTATTGGCCGCTACAACATC	0.577													A	51749144	G	A	51749144	3	1	141	1	0	0	0	0	1	0	0	0	6797	1087	38	1	1365	1	GRM2	3	51749144	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	13097787	51749144	146273286	34	79859											
SFMBT1	51460	broad.mit.edu	37	chr3	52946639	52946639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacggctgggtttgtaggCtgcattgataagtaaagtga	14	5	0	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr3:52946639C>T	uc003dgf.2	-	17	2214	c.1645G>A	c.(1645-1647)GCC>ACC	p.A549T	SFMBT1_uc010hmr.2_Missense_Mutation_p.A496T|SFMBT1_uc003dgg.2_Missense_Mutation_p.A549T|SFMBT1_uc003dgh.2_Missense_Mutation_p.A549T	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	549					regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GGTTTGTAGGCTGCATTGATA	0.478													T	52946639	C	T	52946639	3	4	141	1	0	0	0	0	1	0	0	0	14157	797	28	2	979	2	SFMBT1	3	52946639	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	1197495	52946639	145075791	35	79860											
SENP7	57337	broad.mit.edu	37	chr3	101062557	101062557	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgatttcagcttcatttcTtcagcaacagcaacaccagc	5	13	4	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr3:101062557T>G	uc003dut.2	-	14	2190	c.2079A>C	c.(2077-2079)GAA>GAC	p.E693D	SENP7_uc003duu.2_Missense_Mutation_p.E628D|SENP7_uc003duv.2_Missense_Mutation_p.E660D|SENP7_uc003duw.2_Missense_Mutation_p.E627D|SENP7_uc003dux.2_Missense_Mutation_p.E529D	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	693					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						GCTTCATTTCTTCAGCAACAG	0.353													G	101062557	T	G	101062557	3	3	141	1	0	0	0	0	1	0	0	0	14051	1606	56	5	1117	5	SENP7	3	101062557	Missense_Mutation	SNP	T	TCGA-CD-8524-01A-11D-2340-08	48115918	101062557	96959873	36	79861											
SEC61A1	29927	broad.mit.edu	37	chr3	127785877	127785877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatcaagctcttctatacGtccaacatccccatcatcct	2	18	4	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr3:127785877G>A	uc003ekb.2	+	9	1042	c.858G>A	c.(856-858)ACG>ACA	p.T286T	RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Intron|SEC61A1_uc003ekc.2_Silent_p.T233T|SEC61A1_uc003ekd.2_Silent_p.T166T|SEC61A1_uc003ekg.2_5'UTR	NM_013336	NP_037468	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit	286	Cytoplasmic (Potential).				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			ovary(1)	1						TCTTCTATACGTCCAACATCC	0.547													A	127785877	G	A	127785877	2	1	141	1	0	0	0	0	0	0	0	1	14000	1132	40	1		1	SEC61A1	3	127785877	Silent	SNP	G	TCGA-CD-8524-01A-11D-2340-08	26723320	127785877	70236553	37	79862											
SEC61A1	29927	broad.mit.edu	37	chr3	127785925	127785925	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctggtgtccaacctttaTgtcatctcccaaatgctctc	6	15	3	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr3:127785925T>C	uc003ekb.2	+	9	1090	c.906T>C	c.(904-906)TAT>TAC	p.Y302Y	RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Intron|SEC61A1_uc003ekc.2_Silent_p.Y249Y|SEC61A1_uc003ekd.2_Silent_p.Y182Y|SEC61A1_uc003ekg.2_5'UTR	NM_013336	NP_037468	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit	302	Helical; (Potential).				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			ovary(1)	1						CCAACCTTTATGTCATCTCCC	0.542													C	127785925	T	C	127785925	2	2	141	1	0	0	0	0	0	0	0	1	14000	1471	51	3		3	SEC61A1	3	127785925	Silent	SNP	T	TCGA-CD-8524-01A-11D-2340-08	48	127785925	70236505	38	79863											
MRPS22	56945	broad.mit.edu	37	chr3	139067023	139067023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacaagacaggcagttgagGcagctaaagtacgattaaaa	10	7	0	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr3:139067023G>A	uc003etb.2	+	3	369	c.361G>A	c.(361-363)GCA>ACA	p.A121T	MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.A120T|MRPS22_uc003ete.2_Missense_Mutation_p.A80T	NM_020191	NP_064576	P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	121						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			ovary(2)|skin(1)	3						GGCAGTTGAGGCAGCTAAAGT	0.358													A	139067023	G	A	139067023	3	1	141	1	0	0	0	0	1	0	0	0	9833	1203	42	2	371	2	MRPS22	3	139067023	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	11281098	139067023	58955407	39	79864											
ZNF595	152687	broad.mit.edu	37	chr4	60009	60009	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcaaataaaagagccctgCaatttgaagatacatgagac	9	7	0	4			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:60009C>A	uc003fzv.1	+	3	345	c.189C>A	c.(187-189)TGC>TGA	p.C63*	ZNF595_uc003fzu.1_RNA|ZNF718_uc003fzt.3_Nonsense_Mutation_p.Y63*|ZNF595_uc010iay.1_RNA|ZNF595_uc011bus.1_Intron|ZNF595_uc011but.1_Intron	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN	zinc finger protein 595	63					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AAGAGCCCTGCAATTTGAAGA	0.458													A	60009	C	A	60009	4	1	141	1	0	0	0	0	0	1	0	0	18022	718	25	5	199	5	ZNF595	4	60009	Nonsense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08		60009	191094267	40	79865											
PDE6B	5158	broad.mit.edu	37	chr4	619713	619713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcttcatgtaccgccagCgcaacggcgtggccgagctg	13	15	2	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:619713C>T	uc003gap.2	+	1	351	c.298C>T	c.(298-300)CGC>TGC	p.R100C	PDE6B_uc003gao.3_Missense_Mutation_p.R100C	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	100	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						GTACCGCCAGCGCAACGGCGT	0.672													T	619713	C	T	619713	3	4	141	1	0	0	0	0	1	0	0	0	11646	768	27	1	300	1	PDE6B	4	619713	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	559704	619713	190534563	41	79866											
CPLX1	10815	broad.mit.edu	37	chr4	780405	780405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgggatggccttcttggGccgcgtcaagctcccctcgg	15	15	2	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:780405G>A	uc003gbi.2	-	4	480	c.289C>T	c.(289-291)CCC>TCC	p.P97S	CPLX1_uc003gbj.2_Missense_Mutation_p.P76S	NM_006651	NP_006642	O14810	CPLX1_HUMAN	complexin 1	97					glutamate secretion	cytosol					0				Colorectal(103;0.187)		GCCTTCTTGGGCCGCGTCAAG	0.697													A	780405	G	A	780405	3	1	141	1	0	0	0	0	1	0	0	0	3804	1203	42	2	119	2	CPLX1	4	780405	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	160692	780405	190373871	42	79867											
TLR1	7096	broad.mit.edu	37	chr4	38799339	38799339	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataagtgtctccaactcagTaaggtgcccacaattttcaa	6	10	3	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:38799339T>C	uc003gtl.2	-	4	1388	c.1114A>G	c.(1114-1116)ACT>GCT	p.T372A		NM_003263	NP_003254	Q15399	TLR1_HUMAN	toll-like receptor 1 precursor	372	Extracellular (Potential).|LRR 6.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			lung(2)|skin(2)|prostate(1)	5						TCCAACTCAGTAAGGTGCCCA	0.363													C	38799339	T	C	38799339	3	2	141	1	0	0	0	0	1	0	0	0	15946	1638	57	3	1250	3	TLR1	4	38799339	Missense_Mutation	SNP	T	TCGA-CD-8524-01A-11D-2340-08	38018934	38799339	152354937	43	79868											
POLR2B	5431	broad.mit.edu	37	chr4	57873014	57873014	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttgcttaaagaagtgcggaTctatgcacagaaatttattg	9	5	1	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:57873014T>A	uc003hcl.1	+	10	1293	c.1250T>A	c.(1249-1251)ATC>AAC	p.I417N	POLR2B_uc011cae.1_Missense_Mutation_p.I410N|POLR2B_uc011caf.1_Missense_Mutation_p.I342N|POLR2B_uc003hcm.1_5'Flank	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	417					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)					GAAGTGCGGATCTATGCACAG	0.333													A	57873014	T	A	57873014	3	1	141	1	0	0	0	0	1	0	0	0	12215	1435	50	5	1288	5	POLR2B	4	57873014	Missense_Mutation	SNP	T	TCGA-CD-8524-01A-11D-2340-08	19073675	57873014	133281262	44	79869											
FAM13A	10144	broad.mit.edu	37	chr4	89912232	89912232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaaggtacttgaggaggCagtagtgggtgtctggcagc	18	6	1	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:89912232C>T	uc003hse.1	-	4	705	c.497G>A	c.(496-498)TGC>TAC	p.C166Y	FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsh.1_5'UTR|FAM13A_uc003hsi.2_Missense_Mutation_p.C166Y|FAM13A_uc003hsj.2_Missense_Mutation_p.C166Y	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	166	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						CTTGAGGAGGCAGTAGTGGGT	0.408													T	89912232	C	T	89912232	3	4	141	1	0	0	0	0	1	0	0	0	5452	710	25	2	2691	2	FAM13A	4	89912232	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	32039218	89912232	101242044	45	79870											
COL25A1	84570	broad.mit.edu	37	chr4	109841761	109841761	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggaggccctagaggaccCtaaaaaagaaaaacgattca	9	11	1	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:109841761C>T	uc003hze.1	-	11	1240	c.709_splice	c.e11-1	p.G237_splice	COL25A1_uc003hzg.2_Splice_Site_p.G237_splice|COL25A1_uc003hzd.2_Splice_Site|COL25A1_uc003hzf.2_Splice_Site_p.G18_splice	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1							collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTAGAGGACCCTAAAAAAGAA	0.368													T	109841761	C	T	109841761	5	4	141	1	0	0	0	0	0	0	1	0	3684	695	24	4	1448	4	COL25A1	4	109841761	Splice_Site	SNP	C	TCGA-CD-8524-01A-11D-2340-08	19929529	109841761	81312515	46	79871											
SEC24B	10427	broad.mit.edu	37	chr4	110437729	110437729	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttgtttgttttagatgtgTctcataatgcagtggaagct	10	5	1	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:110437729T>A	uc003hzk.2	+	11	2114	c.2059T>A	c.(2059-2061)TCT>ACT	p.S687T	SEC24B_uc003hzl.2_Missense_Mutation_p.S652T|SEC24B_uc011cfp.1_Missense_Mutation_p.S717T|SEC24B_uc011cfq.1_Missense_Mutation_p.S686T|SEC24B_uc011cfr.1_Missense_Mutation_p.S651T	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	687					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTTAGATGTGTCTCATAATGC	0.318													A	110437729	T	A	110437729	3	1	141	1	0	0	0	0	1	0	0	0	13995	1667	58	5	2101	5	SEC24B	4	110437729	Missense_Mutation	SNP	T	TCGA-CD-8524-01A-11D-2340-08	595968	110437729	80716547	47	79872											
C4orf31	79625	broad.mit.edu	37	chr4	121966864	121966864	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccatctggaattactgaCgaatcatgaaaaaatgcctt	7	9	2	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:121966864C>T	uc003idq.1	-	2	656	c.129G>A	c.(127-129)TCG>TCA	p.S43S		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	43											0						GAATTACTGACGAATCATGAA	0.428													T	121966864	C	T	121966864	2	4	141	1	0	0	0	0	0	0	0	1	2261	523	19	1		1	C4orf31	4	121966864	Silent	SNP	C	TCGA-CD-8524-01A-11D-2340-08	11529135	121966864	69187412	48	79873											
TRPC3	7222	broad.mit.edu	37	chr4	122853759	122853759	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcgtaagcgtagaagtcGtcgtcctgcagctcctgctc	11	13	0	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:122853759G>A	uc003ieg.2	-	2	728	c.654C>T	c.(652-654)GAC>GAT	p.D218D	TRPC3_uc010inr.2_Silent_p.D145D|TRPC3_uc003ief.2_Silent_p.D145D|TRPC3_uc011cgl.1_Translation_Start_Site	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	133	Cytoplasmic (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						CGTAGAAGTCGTCGTCCTGCA	0.627													A	122853759	G	A	122853759	2	1	141	1	0	0	0	0	0	0	0	1	16576	1136	40	1		1	TRPC3	4	122853759	Silent	SNP	G	TCGA-CD-8524-01A-11D-2340-08	886895	122853759	68300517	49	79874											
PCDH10	57575	broad.mit.edu	37	chr4	134072543	134072543	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagaattactacaccatcgtTaccgaagcccccctggaccg	7	15	0	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:134072543T>A	uc003iha.2	+	1	2074	c.1248T>A	c.(1246-1248)GTT>GTA	p.V416V	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.V416V	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	416	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		ACACCATCGTTACCGAAGCCC	0.607													A	134072543	T	A	134072543	2	1	141	1	0	0	0	0	0	0	0	1	11507	1741	61	5		5	PCDH10	4	134072543	Silent	SNP	T	TCGA-CD-8524-01A-11D-2340-08	11218784	134072543	57081733	50	79875											
PCDH10	57575	broad.mit.edu	37	chr4	134073243	134073243	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtcccggccaagcgcgacCcccagcggccttatgagctg	13	16	0	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:134073243C>A	uc003iha.2	+	1	2774	c.1948C>A	c.(1948-1950)CCC>ACC	p.P650T	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.P650T	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	650	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)		CAAGCGCGACCCCCAGCGGCC	0.662													A	134073243	C	A	134073243	3	1	141	1	0	0	0	0	1	0	0	0	11507	623	22	5	1950	5	PCDH10	4	134073243	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	700	134073243	57081033	51	79876											
CTSO	1519	broad.mit.edu	37	chr4	156849542	156849542	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accatctactccccaagaacTtccccaggaattccgcacaa	4	17	1	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:156849542T>C	uc003ipg.2	-	7	926	c.877A>G	c.(877-879)AGT>GGT	p.S293G		NM_001334	NP_001325	P43234	CATO_HUMAN	cathepsin O preproprotein	293					proteolysis	lysosome	cysteine-type endopeptidase activity				0	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CCCCAAGAACTTCCCCAGGAA	0.348													C	156849542	T	C	156849542	3	2	141	1	0	0	0	0	1	0	0	0	4040	1609	56	3	96	3	CTSO	4	156849542	Missense_Mutation	SNP	T	TCGA-CD-8524-01A-11D-2340-08	22776299	156849542	34304734	52	79877											
NEIL3	55247	broad.mit.edu	37	chr4	178231192	178231192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcggtgaccggcgtgcggGgaagcgctctgcggagtctg	20	10	2	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:178231192G>A	uc003iut.2	+	1	202	c.85G>A	c.(85-87)GGA>AGA	p.G29R	NEIL3_uc010irs.2_5'UTR	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3	29					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CGGCGTGCGGGGAAGCGCTCT	0.672								BER_DNA_glycosylases					A	178231192	G	A	178231192	3	1	141	1	0	0	0	0	1	0	0	0	10320	1233	43	4	87	4	NEIL3	4	178231192	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	21381650	178231192	12923084	53	79878											
CLDN22	53842	broad.mit.edu	37	chr4	184240855	184240855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctagcagaagagaaagtcCagcaaaccagcccagaaaca	8	12	0	3			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:184240855C>T	uc010isa.1	-	1	1073	c.517G>A	c.(517-519)GGA>AGA	p.G173R	WWC2_uc010irx.2_3'UTR|WWC2_uc003ivk.3_3'UTR|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_3'UTR|WWC2_uc003ivn.3_3'UTR|WWC2_uc010irz.2_3'UTR|WWC2_uc003ivo.3_3'UTR	NM_001111319	NP_001104789	Q8N7P3	CLD22_HUMAN	claudin 22	173	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGAGAAAGTCCAGCAAACCAG	0.587													T	184240855	C	T	184240855	3	4	141	1	0	0	0	0	1	0	0	0	3483	603	21	4	149	4	CLDN22	4	184240855	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	6009663	184240855	6913421	54	79879											
ENPP6	133121	broad.mit.edu	37	chr4	185074834	185074835	+	Frame_Shift_Ins	INS	-	-	GGTGG													tgtcaaaggacttgttggtgINSgtggggtcccacatgtagtt							TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:185074833_185074834T>TGGTGG	uc003iwc.3	-	1	436_437	c.294_295A>CCACCA	c.(292-297)accaccfs	p.T98fs		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	98					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GACTTGTTGGTGGTGGGGTCCC	0.5													GGTGG	185074835	-	GGTGG	185074834	7	5	141	1	0	1	1	0	0	0	0	0	5134	1335	47	0	1056	0	ENPP6	4	185074834	Frame_Shift_Ins	INS	-	TCGA-CD-8524-01A-11D-2340-08	833979	185074834	6079442	55	79880											
C5orf28	64417	broad.mit.edu	37	chr5	43446368	43446370	+	In_Frame_Del	DEL	TGG	TGG	-													ttttgaagacatcatttgtcTggttcctgttaaatacataa							TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr5:43446367_43446369CTGG>C	uc003jny.3	-	2	746_748	c.603_605CCAG>G	c.(601-606)accaga>acGa	p.R202del	C5orf28_uc003jnv.4_In_Frame_Del_p.R202del|C5orf28_uc003jnx.3_In_Frame_Del_p.R202del	NM_022483	NP_071928	Q0VDI3	CE028_HUMAN	Homo sapiens chromosome 5 open reading frame 28 (C5orf28), mRNA.	202						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					CATCATTTGTCTGGTTCCTGTTA	0.384													-	43446370	TGG	-	43446368	7	5	141	1	0	1	0	1	0	0	0	0	2289	1588	55	0	47	0	C5orf28	5	43446368	In_Frame_Del	DEL	TGG	TCGA-CD-8524-01A-11D-2340-08		43446368	137468892	56	79881											
KCNN2	3781	broad.mit.edu	37	chr5	113699632	113699632	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattccttagctctgaaatgCcttatcagtctctccacgat	5	12	3	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr5:113699632C>A	uc003kqo.2	+	2	973	c.516C>A	c.(514-516)TGC>TGA	p.C172*		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	172	Helical; Name=Segment S2; (Potential).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CTCTGAAATGCCTTATCAGTC	0.483													A	113699632	C	A	113699632	4	1	141	1	0	0	0	0	0	1	0	0	8079	747	26	5	522	5	KCNN2	5	113699632	Nonsense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	70253264	113699632	67215628	57	79882											
MEGF10	84466	broad.mit.edu	37	chr5	126754837	126754837	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgactgctctaccccatgccCtctgggaacctatgggataa	9	13	2	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr5:126754837C>G	uc003kuh.3	+	12	1693	c.1331C>G	c.(1330-1332)CCT>CGT	p.P444R	MEGF10_uc010jdc.1_Missense_Mutation_p.P444R|MEGF10_uc010jdd.1_Missense_Mutation_p.P444R|MEGF10_uc003kui.3_Missense_Mutation_p.P444R	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	444	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACCCCATGCCCTCTGGGAACC	0.448													G	126754837	C	G	126754837	3	3	141	1	0	0	0	0	1	0	0	0	9460	681	24	5	1369	5	MEGF10	5	126754837	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	13055205	126754837	54160423	58	79883											
TGFBI	7045	broad.mit.edu	37	chr5	135391437	135391437	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtacgggaccctgttcacGatggaccgggtgctgacccc	14	13	1	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr5:135391437G>A	uc003lbf.3	+	11	1640	c.1479G>A	c.(1477-1479)ACG>ACA	p.T493T	TGFBI_uc003lbg.3_Silent_p.T226T|TGFBI_uc003lbh.3_Silent_p.T319T|TGFBI_uc011cyb.1_Silent_p.T319T|TGFBI_uc010jed.2_Silent_p.T226T	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	493	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCCTGTTCACGATGGACCGGG	0.572													A	135391437	G	A	135391437	2	1	141	1	0	0	0	0	0	0	0	1	15817	1045	37	1		1	TGFBI	5	135391437	Silent	SNP	G	TCGA-CD-8524-01A-11D-2340-08	8636600	135391437	45523823	59	79884											
PCDHA12	56137	broad.mit.edu	37	chr5	140256590	140256590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagctacgtgtcggtgcaCgcggagagcggcaaggtgta	17	9	0	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr5:140256590C>T	uc003lic.2	+	1	1660	c.1533C>T	c.(1531-1533)CAC>CAT	p.H511H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.H511H	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	511	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCGGTGCACGCGGAGAGCG	0.706													T	140256590	C	T	140256590	2	4	141	1	0	0	0	0	0	0	0	1	11522	535	19	1		1	PCDHA12	5	140256590	Silent	SNP	C	TCGA-CD-8524-01A-11D-2340-08	4865153	140256590	40658670	60	79885											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308104	140308104	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaacagtgactataaacTtgtttgtggtagataggaat	11	4	0	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr5:140308104T>G	uc003lih.2	+	1	1803	c.1627T>G	c.(1627-1629)TTG>GTG	p.L543V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.L543V	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	543	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTATAAACTTGTTTGTGGT	0.478													G	140308104	T	G	140308104	3	3	141	1	0	0	0	0	1	0	0	0	11532	1606	56	5	1629	5	PCDHAC1	5	140308104	Missense_Mutation	SNP	T	TCGA-CD-8524-01A-11D-2340-08	51514	140308104	40607156	61	79886											
PCDHB2	56133	broad.mit.edu	37	chr5	140475135	140475135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctatgaggtgcagatccCggaggacagccccgttggat	14	11	1	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr5:140475135C>T	uc003lil.2	+	1	899	c.761C>T	c.(760-762)CCG>CTG	p.P254L	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	254	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCAGATCCCGGAGGACAGC	0.517													T	140475135	C	T	140475135	3	4	141	1	0	0	0	0	1	0	0	0	11542	652	23	1	763	1	PCDHB2	5	140475135	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	167031	140475135	40440125	62	79887											
POU4F3	5459	broad.mit.edu	37	chr5	145719186	145719186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggcggcggtggatatcGtctcccacggcaagaaccat	12	13	2	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr5:145719186G>A	uc003loa.2	+	2	285	c.196G>A	c.(196-198)GTC>ATC	p.V66I		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	66					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGGATATCGTCTCCCACGG	0.602													A	145719186	G	A	145719186	3	1	141	1	0	0	0	0	1	0	0	0	12280	1145	40	1	202	1	POU4F3	5	145719186	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	5244051	145719186	35196074	63	79888											
HIST1H4H	8365	broad.mit.edu	37	chr6	26285677	26285677	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcaaaaccttgcgatgacgCttagctcctcccttacccaa	6	16	0	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr6:26285677C>A	uc003nhm.2	-	1	51	c.51G>T	c.(49-51)AAG>AAT	p.K17N	HIST1H4H_uc003nhl.1_RNA	NM_003543	NP_003534	P62805	H4_HUMAN	histone cluster 1, H4h	17					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2						TGCGATGACGCTTAGCTCCTC	0.507										HNSCC(76;0.23)			A	26285677	C	A	26285677	3	1	141	1	0	0	0	0	1	0	0	0	7172	796	28	5	264	5	HIST1H4H	6	26285677	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08		26285677	144829390	64	79889											
OR2W1	26692	broad.mit.edu	37	chr6	29012625	29012625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaggagaaggcactcaaCtgagcccaaccacatgtaaa	9	12	1	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr6:29012625C>T	uc003nlw.2	-	1	328	c.328G>A	c.(328-330)GTT>ATT	p.V110I		NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						AGGCACTCAACTGAGCCCAAC	0.433													T	29012625	C	T	29012625	3	4	141	1	0	0	0	0	1	0	0	0	11032	565	20	4	638	4	OR2W1	6	29012625	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	2726948	29012625	142102442	65	79890											
C6orf153	88745	broad.mit.edu	37	chr6	42995125	42995125	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaatggcacagcaggaaCgaaagcaacagcaggagctg	13	8	0	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr6:42995125C>T	uc003otp.1	+	6	561	c.553C>T	c.(553-555)CGA>TGA	p.R185*		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	hypothetical protein LOC88745	185	Potential.				ribosomal small subunit biogenesis|rRNA processing	nucleolus					0			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ACAGCAGGAACGAAAGCAACA	0.532													T	42995125	C	T	42995125	4	4	141	1	0	0	0	0	0	1	0	0	2338	528	19	1	575	1	C6orf153	6	42995125	Nonsense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	13982500	42995125	128119942	66	79891											
RCAN2	10231	broad.mit.edu	37	chr6	46190976	46190976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcttcctctatgtcactgtCgcacacgtgcacgacgacac	7	15	3	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr6:46190976C>T	uc003oyb.1	-	4	811	c.496G>A	c.(496-498)GAC>AAC	p.D166N	RCAN2_uc003oyc.1_Missense_Mutation_p.D212N|RCAN2_uc003oyd.1_Missense_Mutation_p.D212N	NM_005822	NP_005813	Q14206	RCAN2_HUMAN	Down syndrome critical region gene 1-like 1	166					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding				0						ATGTCACTGTCGCACACGTGC	0.537													T	46190976	C	T	46190976	3	4	141	1	0	0	0	0	1	0	0	0	13169	884	31	1	101	1	RCAN2	6	46190976	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	3195851	46190976	124924091	67	79892											
PKHD1	5314	broad.mit.edu	37	chr6	51913367	51913367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgctgtcgtctctgtgtcGtcaccaggaccagtccagat	10	14	2	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr6:51913367G>A	uc003pah.1	-	23	2606	c.2330C>T	c.(2329-2331)ACG>ATG	p.T777M	PKHD1_uc003pai.2_Missense_Mutation_p.T777M	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	777	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TCTCTGTGTCGTCACCAGGAC	0.527													A	51913367	G	A	51913367	3	1	141	1	0	0	0	0	1	0	0	0	11971	1145	40	1	10113	1	PKHD1	6	51913367	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	5722391	51913367	119201700	68	79893											
TMEM30A	55754	broad.mit.edu	37	chr6	75968636	75968636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaaatcctcatttatgaatCcattattatctgggtcagaa	5	7	3	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr6:75968636C>T	uc003phw.2	-	6	1030	c.752G>A	c.(751-753)GGA>GAA	p.G251E	TMEM30A_uc003phx.2_Missense_Mutation_p.G215E	NM_018247	NP_060717	Q9NV96	CC50A_HUMAN	transmembrane protein 30A isoform 1	251						integral to membrane					0						ATTTATGAATCCATTATTATC	0.388													T	75968636	C	T	75968636	3	4	141	1	0	0	0	0	1	0	0	0	16150	855	30	4	341	4	TMEM30A	6	75968636	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	24055269	75968636	95146431	69	79894											
ASCC3	10973	broad.mit.edu	37	chr6	101076966	101076966	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attttgccagcttctgctgaCtccatcccacttctctggcg	7	15	2	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr6:101076966C>A	uc003pqk.2	-	27	4629	c.4300G>T	c.(4300-4302)GTC>TTC	p.V1434F		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1434	Helicase ATP-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTTCTGCTGACTCCATCCCAC	0.453													A	101076966	C	A	101076966	3	1	141	1	0	0	0	0	1	0	0	0	1033	565	20	5	2372	5	ASCC3	6	101076966	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	25108330	101076966	70038101	70	79895											
FIG4	9896	broad.mit.edu	37	chr6	110048334	110048334	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttgtcaggttcttagaaggCtattatattgtgttaataac	8	4	2	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr6:110048334C>G	uc003ptt.2	+	4	527	c.312C>G	c.(310-312)GGC>GGG	p.G104G	FIG4_uc011eau.1_Intron	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	104					cell death	endosome membrane	protein binding			ovary(1)	1		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TCTTAGAAGGCTATTATATTG	0.323													G	110048334	C	G	110048334	2	3	141	1	0	0	0	0	0	0	0	1	5888	784	28	5		5	FIG4	6	110048334	Silent	SNP	C	TCGA-CD-8524-01A-11D-2340-08	8971368	110048334	61066733	71	79896											
HIVEP2	3097	broad.mit.edu	37	chr6	143092978	143092978	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagttgctttcttggctgggGctgcgggagaggcctgtgcc	17	9	1	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr6:143092978G>C	uc003qjd.2	-	5	3641	c.2898C>G	c.(2896-2898)AGC>AGG	p.S966R		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	966	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTTGGCTGGGGCTGCGGGAGA	0.512													C	143092978	G	C	143092978	3	2	141	1	0	0	0	0	1	0	0	0	7187	1194	42	5	4466	5	HIVEP2	6	143092978	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	33044644	143092978	28022089	72	79897											
STX11	8676	broad.mit.edu	37	chr6	144508051	144508051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccaaggccatcaaggcccGgggcgaggtcatccactgca	13	15	2	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr6:144508051G>A	uc003qks.3	+	2	479	c.287G>A	c.(286-288)CGG>CAG	p.R96Q		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	96				RG -> PP (in Ref. 1; AAD02107).	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		ATCAAGGCCCGGGGCGAGGTC	0.677									Familial_Hemophagocytic_Lymphohistiocytosis				A	144508051	G	A	144508051	3	1	141	1	0	0	0	0	1	0	0	0	15336	1116	39	1	289	1	STX11	6	144508051	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	1415073	144508051	26607016	73	79898											
MAP3K4	4216	broad.mit.edu	37	chr6	161512447	161512447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgcaacaggataagcaatGccattgaccgcgtggaccac	10	11	0	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr6:161512447G>A	uc003qtn.2	+	12	3152	c.3010G>A	c.(3010-3012)GCC>ACC	p.A1004T	MAP3K4_uc010kkc.1_Missense_Mutation_p.A1004T|MAP3K4_uc003qto.2_Missense_Mutation_p.A1004T|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.A457T|MAP3K4_uc003qtp.2_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1004					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GATAAGCAATGCCATTGACCG	0.398													A	161512447	G	A	161512447	3	1	141	1	0	0	0	0	1	0	0	0	9252	1319	46	2	3056	2	MAP3K4	6	161512447	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	17004396	161512447	9602620	74	79899											
SDK1	221935	broad.mit.edu	37	chr7	4188957	4188957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgaccgcacgcagcctccGgctccagtgggtcccgggca	14	16	0	1	rs141114121		TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr7:4188957G>A	uc003smx.2	+	30	4626	c.4487G>A	c.(4486-4488)CGG>CAG	p.R1496Q	SDK1_uc010kso.2_Missense_Mutation_p.R772Q|SDK1_uc003smy.2_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1496	Fibronectin type-III 9.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGCAGCCTCCGGCTCCAGTGG	0.672													A	4188957	G	A	4188957	3	1	141	1	0	0	0	0	1	0	0	0	13968	1116	39	1	4605	1	SDK1	7	4188957	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08		4188957	154949706	75	79900											
SLC29A4	222962	broad.mit.edu	37	chr7	5327609	5327609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggcgtcccagctttcacGgatactagtaagtaggcgtg	14	9	1	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr7:5327609G>A	uc003sod.2	+	2	323	c.162G>A	c.(160-162)ACG>ACA	p.T54T	SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Silent_p.T54T|SLC29A4_uc003soe.2_Silent_p.T54T	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (nucleoside	54	Extracellular (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			liver(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CAGCTTTCACGGATACTAGTA	0.647													A	5327609	G	A	5327609	2	1	141	1	0	0	0	0	0	0	0	1	14537	1103	39	1		1	SLC29A4	7	5327609	Silent	SNP	G	TCGA-CD-8524-01A-11D-2340-08	1138652	5327609	153811054	76	79901											
CCDC129	223075	broad.mit.edu	37	chr7	31682400	31682400	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggactgtcagctagagtcGgatgggccagattccaaaag	13	9	1	2	rs146986060		TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr7:31682400G>A	uc003tcj.1	+	11	2409	c.1416G>A	c.(1414-1416)TCG>TCA	p.S472S	CCDC129_uc011kad.1_Silent_p.S482S|CCDC129_uc003tci.1_Silent_p.S323S|CCDC129_uc011kae.1_Silent_p.S498S|CCDC129_uc003tck.1_Silent_p.S380S	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	472											0						AGCTAGAGTCGGATGGGCCAG	0.502													A	31682400	G	A	31682400	2	1	141	1	0	0	0	0	0	0	0	1	2764	1103	39	1		1	CCDC129	7	31682400	Silent	SNP	G	TCGA-CD-8524-01A-11D-2340-08	26354791	31682400	127456263	77	79902											
GRB10	2887	broad.mit.edu	37	chr7	50737431	50737431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactcacctgctttgcggcGgcctggctcggaggtaaaga	13	12	1	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr7:50737431G>A	uc003tpi.2	-	4	523	c.492C>T	c.(490-492)GCC>GCT	p.A164A	GRB10_uc003tph.3_Silent_p.A106A|GRB10_uc003tpj.2_Silent_p.A164A|GRB10_uc003tpk.2_Silent_p.A164A|GRB10_uc010kzb.2_Silent_p.A106A|GRB10_uc003tpl.2_Silent_p.A158A|GRB10_uc003tpm.2_Silent_p.A106A|GRB10_uc003tpn.2_Silent_p.A106A	NM_005311	NP_005302	Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10 isoform	164					insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity			lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6	Glioma(55;0.08)|all_neural(89;0.245)					GCTTTGCGGCGGCCTGGCTCG	0.587									Russell-Silver_syndrome				A	50737431	G	A	50737431	2	1	141	1	0	0	0	0	0	0	0	1	6756	1103	39	1		1	GRB10	7	50737431	Silent	SNP	G	TCGA-CD-8524-01A-11D-2340-08	19055031	50737431	108401232	78	79903											
FZD1	8321	broad.mit.edu	37	chr7	90895618	90895618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacggcgatgtgctgagcGgagtgtgcttcgtggggctt	19	7	0	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr7:90895618G>A	uc003ula.2	+	1	1836	c.1423G>A	c.(1423-1425)GGA>AGA	p.G475R		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	475	Extracellular (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGTGCTGAGCGGAGTGTGCTT	0.622													A	90895618	G	A	90895618	3	1	141	1	0	0	0	0	1	0	0	0	6128	1117	39	1	1425	1	FZD1	7	90895618	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	40158187	90895618	68243045	79	79904											
ABP1	26	broad.mit.edu	37	chr7	150557647	150557647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcagcagcagcatctacCaccagaacgacccctggcac	9	16	1	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr7:150557647C>T	uc003why.1	+	5	6133	c.1915C>T	c.(1915-1917)CAC>TAC	p.H639Y	ABP1_uc003whz.1_Missense_Mutation_p.H639Y|ABP1_uc003wia.1_Missense_Mutation_p.H658Y	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	639					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CAGCATCTACCACCAGAACGA	0.617													T	150557647	C	T	150557647	3	4	141	1	0	0	0	0	1	0	0	0	98	594	21	4	1925	4	ABP1	7	150557647	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	59662029	150557647	8581016	80	79905											
CSMD1	64478	broad.mit.edu	37	chr8	3855478	3855478	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaatcatatccttcttcTagctgaaagtcagtgaagac	7	8	4	4			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:3855478T>C	uc011kwk.1	-	5	1155	c.765A>G	c.(763-765)CTA>CTG	p.L255L		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	255	Extracellular (Potential).|CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATCCTTCTTCTAGCTGAAAGT	0.522													C	3855478	T	C	3855478	2	2	141	1	0	0	0	0	0	0	0	1	3944	1509	53	3		3	CSMD1	8	3855478	Silent	SNP	T	TCGA-CD-8524-01A-11D-2340-08		3855478	142508544	81	79906											
SGK223	157285	broad.mit.edu	37	chr8	8234511	8234517	+	Frame_Shift_Del	DEL	CTGACAC	CTGACAC	-													cgccatgactgtgatggtggCtgacacctggggagttgggt							TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:8234510_8234516GCTGACAC>G	uc003wsh.4	-	1	1403_1409	c.1403_1409GTGTCAGC>C	c.(1402-1410)gtgtcagccfs	p.V468fs		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	468							ATP binding|non-membrane spanning protein tyrosine kinase activity										TGTGATGGTGGCTGACACCTGGGGAGT	0.657													-	8234517	CTGACAC	-	8234511	7	5	141	1	0	1	0	1	0	0	0	0	14210	797	28	0	2816	0	SGK223	8	8234511	Frame_Shift_Del	DEL	CTGACAC	TCGA-CD-8524-01A-11D-2340-08	4379033	8234511	138129511	82	79907											
TUSC3	7991	broad.mit.edu	37	chr8	15480610	15480610	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcttttagctgaaaaagtaGagcagctgatggaatggagt	12	4	1	3			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:15480610G>T	uc003wwt.2	+	2	370	c.160G>T	c.(160-162)GAG>TAG	p.E54*	TUSC3_uc003wwr.2_Nonsense_Mutation_p.E54*|TUSC3_uc003wws.2_Nonsense_Mutation_p.E54*|TUSC3_uc003wwu.2_Nonsense_Mutation_p.E54*|TUSC3_uc003wwv.2_Nonsense_Mutation_p.E54*|TUSC3_uc003www.2_Nonsense_Mutation_p.E54*|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Nonsense_Mutation_p.E54*	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	54					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		TGAAAAAGTAGAGCAGCTGAT	0.333													T	15480610	G	T	15480610	4	4	141	1	0	0	0	0	0	1	0	0	16775	943	33	5	166	5	TUSC3	8	15480610	Nonsense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	7246099	15480610	130883412	83	79908											
ADRA1A	148	broad.mit.edu	37	chr8	26721669	26721669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgaccacgatgcccagcGttttggccgctttcttctcc	9	16	2	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:26721669G>A	uc003xfh.1	-	1	1254	c.818C>T	c.(817-819)ACG>ATG	p.T273M	ADRA1A_uc003xfc.1_Missense_Mutation_p.T273M|ADRA1A_uc010lul.1_Missense_Mutation_p.T273M|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.T273M|ADRA1A_uc010lum.1_Missense_Mutation_p.T273M|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.T273M	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	273	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GATGCCCAGCGTTTTGGCCGC	0.582													A	26721669	G	A	26721669	3	1	141	1	0	0	0	0	1	0	0	0	334	1145	40	1	881	1	ADRA1A	8	26721669	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	11241059	26721669	119642353	84	79909											
ZNF395	55893	broad.mit.edu	37	chr8	28206254	28206254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcagtccagaaagcgctgGcaggccttcttccaccggca	11	15	2	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:28206254G>A	uc003xgq.2	-	10	1612	c.1524C>T	c.(1522-1524)TGC>TGT	p.C508C	ZNF395_uc003xgt.2_Silent_p.C508C|ZNF395_uc003xgr.2_Silent_p.C508C|ZNF395_uc003xgs.2_Silent_p.C508C	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	508					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GAAAGCGCTGGCAGGCCTTCT	0.627													A	28206254	G	A	28206254	2	1	141	1	0	0	0	0	0	0	0	1	17878	1195	42	2		2	ZNF395	8	28206254	Silent	SNP	G	TCGA-CD-8524-01A-11D-2340-08	1484585	28206254	118157768	85	79910											
UNC5D	137970	broad.mit.edu	37	chr8	35588560	35588560	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actcataccacacggtgccaTcccagaggagaattcttggg	10	12	2	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:35588560T>A	uc003xjr.1	+	11	2040	c.1712T>A	c.(1711-1713)ATC>AAC	p.I571N	UNC5D_uc003xjs.1_Missense_Mutation_p.I566N|UNC5D_uc003xju.1_Missense_Mutation_p.I147N	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	571	ZU5.|Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CACGGTGCCATCCCAGAGGAG	0.378													A	35588560	T	A	35588560	3	1	141	1	0	0	0	0	1	0	0	0	16992	1435	50	5	1754	5	UNC5D	8	35588560	Missense_Mutation	SNP	T	TCGA-CD-8524-01A-11D-2340-08	7382306	35588560	110775462	86	79911											
ZMAT4	79698	broad.mit.edu	37	chr8	40554921	40554921	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgtcggcatcacttccCtgcgcagggagaaagaaagg	12	11	1	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:40554921C>T	uc003xnr.2	-	4	339	c.193_splice	c.e4-1	p.G65_splice	ZMAT4_uc003xns.2_Splice_Site_p.G65_splice	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	zinc finger, matrin type 4 isoform a							nucleus	DNA binding|zinc ion binding			pancreas(1)|central_nervous_system(1)|skin(1)	3	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CATCACTTCCCTGCGCAGGGA	0.453													T	40554921	C	T	40554921	5	4	141	1	0	0	0	0	0	0	1	0	17691	695	24	4	513	4	ZMAT4	8	40554921	Splice_Site	SNP	C	TCGA-CD-8524-01A-11D-2340-08	4966361	40554921	105809101	87	79912											
SNTG1	54212	broad.mit.edu	37	chr8	51571221	51571221	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agattatgtgcaagatcctcAaggtatgatcaatatgtagt	9	5	2	3			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:51571221A>T	uc010lxy.1	+	16	1407	c.1036A>T	c.(1036-1038)AAG>TAG	p.K346*	SNTG1_uc003xqs.1_Nonsense_Mutation_p.K346*|SNTG1_uc010lxz.1_Nonsense_Mutation_p.K346*|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	346	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CAAGATCCTCAAGGTATGATC	0.368													T	51571221	A	T	51571221	4	4	141	1	0	0	0	0	0	1	0	0	14874	131	5	5	1086	5	SNTG1	8	51571221	Nonsense_Mutation	SNP	A	TCGA-CD-8524-01A-11D-2340-08	11016300	51571221	94792801	88	79913											
SDCBP	6386	broad.mit.edu	37	chr8	59484832	59484832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttaaatgaagaagaaataCgtgcaaatgtggccgtggtt	12	4	0	3	rs144425100	byFrequency	TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:59484832C>T	uc003xtn.2	+	4	349	c.199C>T	c.(199-201)CGT>TGT	p.R67C	SDCBP_uc003xto.2_Missense_Mutation_p.R67C|SDCBP_uc003xtr.2_Missense_Mutation_p.R67C|SDCBP_uc003xtp.2_Missense_Mutation_p.R61C|SDCBP_uc003xtq.2_Missense_Mutation_p.R67C|SDCBP_uc003xts.2_Missense_Mutation_p.R74C|SDCBP_uc011led.1_Missense_Mutation_p.R67C	NM_005625	NP_005616	O00560	SDCB1_HUMAN	syntenin isoform 1	67					actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding				0		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AGAAGAAATACGTGCAAATGT	0.338													T	59484832	C	T	59484832	3	4	141	1	0	0	0	0	1	0	0	0	13955	536	19	1	209	1	SDCBP	8	59484832	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	7913611	59484832	86879190	89	79914											
TRIM55	84675	broad.mit.edu	37	chr8	67040664	67040664	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtatatggacttcagaggaaCctgctggtggaaaatatcat	11	6	2	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:67040664C>A	uc003xvv.2	+	2	520	c.294C>A	c.(292-294)AAC>AAA	p.N98K	TRIM55_uc003xvu.2_Missense_Mutation_p.N98K|TRIM55_uc003xvw.2_Missense_Mutation_p.N98K|TRIM55_uc003xvx.2_Missense_Mutation_p.N98K	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	98						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TTCAGAGGAACCTGCTGGTGG	0.488													A	67040664	C	A	67040664	3	1	141	1	0	0	0	0	1	0	0	0	16526	506	18	5	300	5	TRIM55	8	67040664	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	7555832	67040664	79323358	90	79915											
C8orf34	116328	broad.mit.edu	37	chr8	69621266	69621266	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaagaaaggacagaagagTcactaccaatactccattct	8	9	2	3			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:69621266T>C	uc010lyz.2	+	9	1070	c.1021T>C	c.(1021-1023)TCA>CCA	p.S341P	C8orf34_uc003xyb.2_Missense_Mutation_p.S316P	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	341					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GACAGAAGAGTCACTACCAAT	0.333													C	69621266	T	C	69621266	3	2	141	1	0	0	0	0	1	0	0	0	2422	1667	58	3	976	3	C8orf34	8	69621266	Missense_Mutation	SNP	T	TCGA-CD-8524-01A-11D-2340-08	2580602	69621266	76742756	91	79916											
XKR9	389668	broad.mit.edu	37	chr8	71646321	71646321	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgtataagtatggaattcTtatataggattgttgttgga	10	2	1	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:71646321T>C	uc003xyq.2	+	5	1318	c.784T>C	c.(784-786)TTA>CTA	p.L262L	XKR9_uc010lze.2_Silent_p.L262L|XKR9_uc010lzd.2_Silent_p.L130L	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related	262	Helical; (Potential).					integral to membrane				ovary(1)|skin(1)	2	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TATGGAATTCTTATATAGGAT	0.284													C	71646321	T	C	71646321	2	2	141	1	0	0	0	0	0	0	0	1	17435	1606	56	3		3	XKR9	8	71646321	Silent	SNP	T	TCGA-CD-8524-01A-11D-2340-08	2025055	71646321	74717701	92	79917											
ATAD2	29028	broad.mit.edu	37	chr8	124371477	124371477	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttgggggttgaatttTaaatttttcaaagacttctg	8	5	2	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:124371477T>C	uc003yqh.3	-	11	1474	c.1366A>G	c.(1366-1368)AAA>GAA	p.K456E	ATAD2_uc011lii.1_Missense_Mutation_p.K247E|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.K456E	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GGTTGAATTTTAAATTTTTCA	0.323													C	124371477	T	C	124371477	3	2	141	1	0	0	0	0	1	0	0	0	1071	1763	61	3	2878	3	ATAD2	8	124371477	Missense_Mutation	SNP	T	TCGA-CD-8524-01A-11D-2340-08	52725156	124371477	21992545	93	79918											
BNC2	54796	broad.mit.edu	37	chr9	16435946	16435946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattcatcaggactttttcaCtcacttcgctgtgaatgtgc	7	10	4	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr9:16435946C>T	uc003zml.2	-	6	2386	c.2246G>A	c.(2245-2247)AGT>AAT	p.S749N	BNC2_uc011lmw.1_Missense_Mutation_p.S654N|BNC2_uc003zmm.2_Missense_Mutation_p.S707N|BNC2_uc003zmq.1_Missense_Mutation_p.S763N|BNC2_uc003zmr.1_Missense_Mutation_p.S786N|BNC2_uc003zmp.1_Missense_Mutation_p.S777N|BNC2_uc010mij.1_Missense_Mutation_p.S671N|BNC2_uc011lmv.1_Missense_Mutation_p.S575N|BNC2_uc003zmo.1_Missense_Mutation_p.S671N|BNC2_uc003zmj.2_Missense_Mutation_p.S514N|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.S514N|BNC2_uc003zmn.1_Missense_Mutation_p.S514N	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	749					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		GACTTTTTCACTCACTTCGCT	0.512													T	16435946	C	T	16435946	3	4	141	1	0	0	0	0	1	0	0	0	1475	565	20	4	1061	4	BNC2	9	16435946	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08		16435946	124777485	94	79919											
BNC2	54796	broad.mit.edu	37	chr9	16436469	16436469	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccctggagtgagtaaacTtctataaaatggaggaactg	10	7	1	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr9:16436469T>G	uc003zml.2	-	6	1863	c.1723A>C	c.(1723-1725)AGT>CGT	p.S575R	BNC2_uc011lmw.1_Missense_Mutation_p.S480R|BNC2_uc003zmm.2_Missense_Mutation_p.S533R|BNC2_uc003zmq.1_Missense_Mutation_p.S589R|BNC2_uc003zmr.1_Missense_Mutation_p.S612R|BNC2_uc003zmp.1_Missense_Mutation_p.S603R|BNC2_uc010mij.1_Missense_Mutation_p.S497R|BNC2_uc011lmv.1_Missense_Mutation_p.S401R|BNC2_uc003zmo.1_Missense_Mutation_p.S497R|BNC2_uc003zmj.2_Missense_Mutation_p.S340R|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.S340R|BNC2_uc003zmn.1_Missense_Mutation_p.S340R	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	575	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		GTGAGTAAACTTCTATAAAAT	0.517													G	16436469	T	G	16436469	3	3	141	1	0	0	0	0	1	0	0	0	1475	1609	56	5	1584	5	BNC2	9	16436469	Missense_Mutation	SNP	T	TCGA-CD-8524-01A-11D-2340-08	523	16436469	124776962	95	79920											
APBA1	320	broad.mit.edu	37	chr9	72131493	72131493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcgtagagccgcaggcCgtcgcgtgcgtccagctcgg	15	15	0	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr9:72131493C>T	uc004ahh.2	-	2	910	c.634G>A	c.(634-636)GGC>AGC	p.G212S		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	212					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						AGCCGCAGGCCGTCGCGTGCG	0.716													T	72131493	C	T	72131493	3	4	141	1	0	0	0	0	1	0	0	0	756	652	23	1	1927	1	APBA1	9	72131493	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	55695024	72131493	69081938	96	79921											
ASTN2	23245	broad.mit.edu	37	chr9	120053656	120053656	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcaacaatctccgagggCtcctggagagtgggggcggt	15	11	2	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr9:120053656C>A	uc004bjs.1	-	2	680	c.579G>T	c.(577-579)GAG>GAT	p.E193D	ASTN2_uc004bjr.1_Missense_Mutation_p.E193D|ASTN2_uc004bjt.1_Missense_Mutation_p.E193D	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	193	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						TCTCCGAGGGCTCCTGGAGAG	0.612													A	120053656	C	A	120053656	3	1	141	1	0	0	0	0	1	0	0	0	1065	796	28	5	3603	5	ASTN2	9	120053656	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	47922163	120053656	21159775	97	79922											
TLR4	7099	broad.mit.edu	37	chr9	120475046	120475046	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctttagacctgtccctgaacCctatgaactttatccaacca	4	14	0	3			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr9:120475046C>G	uc004bjz.2	+	3	931	c.640C>G	c.(640-642)CCT>GCT	p.P214A	TLR4_uc004bka.2_Missense_Mutation_p.P174A|TLR4_uc004bkb.2_Missense_Mutation_p.P14A	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	214	LRR 7.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						GTCCCTGAACCCTATGAACTT	0.358													G	120475046	C	G	120475046	3	3	141	1	0	0	0	0	1	0	0	0	15950	623	22	5	650	5	TLR4	9	120475046	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	421390	120475046	20738385	98	79923											
NR6A1	2649	broad.mit.edu	37	chr9	127298387	127298387	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcggcaaagcagggcaaaTagttctgcctgtgtcacagc	13	10	2	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr9:127298387T>C	uc004bor.1	-	7	1027	c.849A>G	c.(847-849)CTA>CTG	p.L283L	NR6A1_uc004boq.1_Silent_p.L278L|NR6A1_uc010mwq.1_Silent_p.L279L	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	283					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						GCAGGGCAAATAGTTCTGCCT	0.527													C	127298387	T	C	127298387	2	2	141	1	0	0	0	0	0	0	0	1	10637	1393	49	3		3	NR6A1	9	127298387	Silent	SNP	T	TCGA-CD-8524-01A-11D-2340-08	6823341	127298387	13915044	99	79924											
ENG	2022	broad.mit.edu	37	chr9	130587127	130587127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggccagcggtagctccaCgaaggatgccacaatgctgg	14	12	0	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr9:130587127C>T	uc004bsj.3	-	7	1356	c.943G>A	c.(943-945)GTG>ATG	p.V315M	ENG_uc011mam.1_Missense_Mutation_p.V126M|ENG_uc004bsk.3_Missense_Mutation_p.V315M	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	endoglin isoform 1 precursor	315	Extracellular (Potential).				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding				0						GGTAGCTCCACGAAGGATGCC	0.473									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				T	130587127	C	T	130587127	3	4	141	1	0	0	0	0	1	0	0	0	5117	536	19	1	1095	1	ENG	9	130587127	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	3288740	130587127	10626304	100	79925											
SETX	23064	broad.mit.edu	37	chr9	135205035	135205035	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatacactgtcttgcactttCattggttctttagaaaatgt	6	7	3	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr9:135205035C>A	uc004cbk.2	-	10	2133	c.1950G>T	c.(1948-1950)ATG>ATT	p.M650I	SETX_uc004cbj.2_Missense_Mutation_p.M269I|SETX_uc010mzt.2_Missense_Mutation_p.M269I	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	650					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTTGCACTTTCATTGGTTCTT	0.348													A	135205035	C	A	135205035	3	1	141	1	0	0	0	0	1	0	0	0	14141	826	29	5	6151	5	SETX	9	135205035	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	4617908	135205035	6008396	101	79926											
KCNT1	57582	broad.mit.edu	37	chr9	138683644	138683644	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggctgtgtcctttgcagaCgagatgaacgaccaccagaa	11	12	0	4			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr9:138683644C>T	uc011mdq.1	+	30	3578	c.3504C>T	c.(3502-3504)GAC>GAT	p.D1168D	KCNT1_uc011mdr.1_Silent_p.D1016D|KCNT1_uc010nbf.2_Silent_p.D1144D	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1168						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCTTTGCAGACGAGATGAACG	0.642													T	138683644	C	T	138683644	2	4	141	1	0	0	0	0	0	0	0	1	8091	550	19	1		1	KCNT1	9	138683644	Silent	SNP	C	TCGA-CD-8524-01A-11D-2340-08	3478609	138683644	2529787	102	79927											
PNPLA7	375775	broad.mit.edu	37	chr9	140437937	140437937	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggtgagaattcttcacGtcaaactccgtgaggtcggc	13	10	3	2	rs139510260	byFrequency	TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr9:140437937G>A	uc004cnf.2	-	5	715	c.378C>T	c.(376-378)GAC>GAT	p.D126D	PNPLA7_uc010ncj.1_Silent_p.D151D	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	126					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AATTCTTCACGTCAAACTCCG	0.602													A	140437937	G	A	140437937	2	1	141	1	0	0	0	0	0	0	0	1	12170	1136	40	1		1	PNPLA7	9	140437937	Silent	SNP	G	TCGA-CD-8524-01A-11D-2340-08	1754293	140437937	775494	103	79928											
CALML3	810	broad.mit.edu	37	chr10	5567124	5567124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgacaaggatggggacGgctgcatcaccacccgcgag	14	11	1	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr10:5567124G>A	uc001iie.1	+	1	201	c.76G>A	c.(76-78)GGC>AGC	p.G26S	uc001iid.1_5'Flank	NM_005185	NP_005176	P27482	CALL3_HUMAN	calmodulin-like 3	26	1.|EF-hand 1.						calcium ion binding				0						GGATGGGGACGGCTGCATCAC	0.652													A	5567124	G	A	5567124	3	1	141	1	0	0	0	0	1	0	0	0	2587	1116	39	1	78	1	CALML3	10	5567124	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08		5567124	129967623	104	79929											
GDF2	2658	broad.mit.edu	37	chr10	48413661	48413661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtcatccttgtagaggaCggagatggggctcagtttgg	15	7	2	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr10:48413661C>T	uc001jfa.1	-	2	1370	c.1207G>A	c.(1207-1209)GTC>ATC	p.V403I		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	403					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3						TTGTAGAGGACGGAGATGGGG	0.597													T	48413661	C	T	48413661	3	4	141	1	0	0	0	0	1	0	0	0	6314	536	19	1	86	1	GDF2	10	48413661	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	42846537	48413661	87121086	105	79930											
MAPK8	5599	broad.mit.edu	37	chr10	49635141	49635141	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agccaccaccaaagatccctGacaagcagttagatgaaagg	9	11	0	4			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr10:49635141G>A	uc009xnz.2	+	10	1239	c.1015G>A	c.(1015-1017)GAC>AAC	p.D339N	MAPK8_uc001jgl.2_Missense_Mutation_p.D339N|MAPK8_uc001jgm.2_Missense_Mutation_p.D339N|MAPK8_uc001jgo.2_Missense_Mutation_p.D339N|MAPK8_uc009xoa.2_Missense_Mutation_p.D263N|MAPK8_uc001jgn.2_Missense_Mutation_p.D339N|MAPK8_uc010qgk.1_Missense_Mutation_p.D339N|MAPK8_uc001jgp.2_Missense_Mutation_p.D339N|MAPK8_uc001jgq.2_Missense_Mutation_p.D339N	NM_139047	NP_620635	P45983	MK08_HUMAN	mitogen-activated protein kinase 8 isoform JNK1	339					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		AAAGATCCCTGACAAGCAGTT	0.388													A	49635141	G	A	49635141	3	1	141	1	0	0	0	0	1	0	0	0	9283	1290	45	4	1125	4	MAPK8	10	49635141	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	1221480	49635141	85899606	106	79931											
C10orf54	64115	broad.mit.edu	37	chr10	73521515	73521515	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggaggccgactccagcccGtggcgctgagccaggtcgtg	16	14	0	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr10:73521515G>A	uc001jsd.2	-	2	492	c.351C>T	c.(349-351)CAC>CAT	p.H117H	CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_Translation_Start_Site|C10orf54_uc009xqm.2_Intron|C10orf54_uc001jsf.1_Silent_p.H117H	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	platelet receptor Gi24 precursor	117	Ig-like.|Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)|central_nervous_system(1)	3						ACTCCAGCCCGTGGCGCTGAG	0.652													A	73521515	G	A	73521515	2	1	141	1	0	0	0	0	0	0	0	1	1607	1136	40	1		1	C10orf54	10	73521515	Silent	SNP	G	TCGA-CD-8524-01A-11D-2340-08	23886374	73521515	62013232	107	79932											
ZCCHC24	219654	broad.mit.edu	37	chr10	81146112	81146112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcagcccgtcactgcacgcGacggcagtagtagcccagga	14	14	1	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr10:81146112G>A	uc001kak.2	-	4	902	c.715C>T	c.(715-717)CGC>TGC	p.R239C	ZCCHC24_uc010qlr.1_Missense_Mutation_p.S179L|ZCCHC24_uc009xrw.2_RNA	NM_153367	NP_699198	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	239							nucleic acid binding|zinc ion binding			breast(1)	1						CACTGCACGCGACGGCAGTAG	0.701													A	81146112	G	A	81146112	3	1	141	1	0	0	0	0	1	0	0	0	17585	1058	37	1	14	1	ZCCHC24	10	81146112	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	7624597	81146112	54388635	108	79933											
NRG3	10718	broad.mit.edu	37	chr10	83635660	83635660	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacagcacggaacactgcGgcccctgcgacggtcccgtc	11	18	0	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr10:83635660G>A	uc001kco.2	+	1	591	c.564G>A	c.(562-564)GCG>GCA	p.A188A	NRG3_uc010qlz.1_Silent_p.A188A|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	188	Ser/Thr-rich.|Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GGAACACTGCGGCCCCTGCGA	0.716													A	83635660	G	A	83635660	2	1	141	1	0	0	0	0	0	0	0	1	10649	1103	39	1		1	NRG3	10	83635660	Silent	SNP	G	TCGA-CD-8524-01A-11D-2340-08	2489548	83635660	51899087	109	79934											
FAM22D	728130	broad.mit.edu	37	chr10	89118032	89118032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctggggtcctatgttccagGaacctgtttactttcaaatt	8	9	2	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr10:89118032G>A	uc001kes.2	+	1	556	c.10G>A	c.(10-12)GAA>AAA	p.E4K	FAM22D_uc009xte.1_Missense_Mutation_p.E4K	NM_001009610	NP_001009610	Q5VT03	FA22D_HUMAN	hypothetical protein LOC728130	4											0						TATGTTCCAGGAACCTGTTTA	0.532													A	89118032	G	A	89118032	3	1	141	1	0	0	0	0	1	0	0	0	5544	1175	41	4	12	4	FAM22D	10	89118032	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	5482372	89118032	46416715	110	79935											
SORCS1	114815	broad.mit.edu	37	chr10	108923823	108923823	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtcagtctcagctcctccatCcggaagcgggtggctttgtc	12	13	2	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr10:108923823C>A	uc001kym.2	-	1	470	c.462G>T	c.(460-462)CGG>CGT	p.R154R	SORCS1_uc001kyl.2_Silent_p.R154R|SORCS1_uc009xxs.2_Silent_p.R154R|SORCS1_uc001kyn.1_Silent_p.R154R|SORCS1_uc001kyo.2_Silent_p.R154R	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	154	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCTCCTCCATCCGGAAGCGGG	0.652													A	108923823	C	A	108923823	2	1	141	1	0	0	0	0	0	0	0	1	14930	842	30	5		5	SORCS1	10	108923823	Silent	SNP	C	TCGA-CD-8524-01A-11D-2340-08	19805791	108923823	26610924	111	79936											
BBOX1	8424	broad.mit.edu	37	chr11	27148884	27148884	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcttacttcatggccgaCgtagctatgaagcaggaact	12	10	1	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr11:27148884C>G	uc001mre.1	+	9	1416	c.1048C>G	c.(1048-1050)CGT>GGT	p.R350G	BBOX1_uc009yih.1_Missense_Mutation_p.R350G|BBOX1_uc001mrg.1_Missense_Mutation_p.R350G	NM_003986	NP_003977	O75936	BODG_HUMAN	gamma-butyrobetaine dioxygenase	350					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1					Succinic acid(DB00139)|Vitamin C(DB00126)	TCATGGCCGACGTAGCTATGA	0.413													G	27148884	C	G	27148884	3	3	141	1	0	0	0	0	1	0	0	0	1334	536	19	5	1074	5	BBOX1	11	27148884	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08		27148884	107857632	112	79937											
OR4C13	283092	broad.mit.edu	37	chr11	49974634	49974634	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctcctgcgtggtcatactGtactccttaaagacccacag	8	13	2	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr11:49974634G>T	uc010rhz.1	+	1	660	c.660G>T	c.(658-660)CTG>CTT	p.L220L		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	220	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						TGGTCATACTGTACTCCTTAA	0.483													T	49974634	G	T	49974634	2	4	141	1	0	0	0	0	0	0	0	1	11047	1364	48	5		5	OR4C13	11	49974634	Silent	SNP	G	TCGA-CD-8524-01A-11D-2340-08	22825750	49974634	85031882	113	79938											
OR4C12	283093	broad.mit.edu	37	chr11	50003129	50003129	+	Frame_Shift_Del	DEL	T	T	-													taatcattatctgaagtcacTttttttctccaaagcttcct							TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr11:50003128_50003128CT>C	uc010ria.2	-	0	944	c.910_910AG>G	c.(910-912)gtgfs	p.V304fs		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V304fs*5(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TCTGAAGTCACTTTTTTTCTC	0.343													-	50003129	T	-	50003129	7	5	141	1	0	1	0	1	0	0	0	0	11046	1606	56	0	24	0	OR4C12	11	50003129	Frame_Shift_Del	DEL	T	TCGA-CD-8524-01A-11D-2340-08	28495	50003129	85003387	114	79939											
SSRP1	6749	broad.mit.edu	37	chr11	57099148	57099148	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggttctcacctctcaAtgctgctgaaggtatactga	11	9	2	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr11:57099148A>G	uc001njt.2	-	9	1484	c.1217T>C	c.(1216-1218)ATT>ACT	p.I406T		NM_003146	NP_003137	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	406					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			ovary(2)	2						TCACCTCTCAATGCTGCTGAA	0.532													G	57099148	A	G	57099148	3	3	141	1	0	0	0	0	1	0	0	0	15193	101	4	3	948	3	SSRP1	11	57099148	Missense_Mutation	SNP	A	TCGA-CD-8524-01A-11D-2340-08	7096019	57099148	77907368	115	79940											
OR5B12	390191	broad.mit.edu	37	chr11	58206946	58206946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcgtccttcaggtgagcGcatcttcatgatggtgataa	12	9	3	3			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr11:58206946G>A	uc010rkh.1	-	1	679	c.679C>T	c.(679-681)CGC>TGC	p.R227C		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCAGGTGAGCGCATCTTCATG	0.403													A	58206946	G	A	58206946	3	1	141	1	0	0	0	0	1	0	0	0	11148	1087	38	1	269	1	OR5B12	11	58206946	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	1107798	58206946	76799570	116	79941											
C11orf2	738	broad.mit.edu	37	chr11	64876186	64876186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccacctgcagggtctcCgggcggccttcctgggctgc	14	17	1	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr11:64876186C>T	uc001ocr.1	+	5	1283	c.1243C>T	c.(1243-1245)CGG>TGG	p.R415W	C11orf2_uc001ocs.1_Missense_Mutation_p.R291W	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	415					lipid transport|protein transport	Golgi apparatus|integral to membrane					0						GCAGGGTCTCCGGGCGGCCTT	0.741													T	64876186	C	T	64876186	3	4	141	1	0	0	0	0	1	0	0	0	1633	643	23	1	1261	1	C11orf2	11	64876186	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	6669240	64876186	70130330	117	79942											
TYR	7299	broad.mit.edu	37	chr11	88961040	88961040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcctctcaaagcagcatGcacaatgccttgcacatcta	7	13	2	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr11:88961040G>A	uc001pcs.2	+	3	1168	c.1086G>A	c.(1084-1086)ATG>ATA	p.M362I		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	362	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AAAGCAGCATGCACAATGCCT	0.393									Oculocutaneous_Albinism				A	88961040	G	A	88961040	3	1	141	1	0	0	0	0	1	0	0	0	16810	1319	46	2	1096	2	TYR	11	88961040	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	24084854	88961040	46045476	118	79943											
MMP7	4316	broad.mit.edu	37	chr11	102395690	102395690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgctaccatccgtccagCgttcatcctcatcgaagtga	8	14	2	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr11:102395690C>T	uc001phb.2	-	4	637	c.590G>A	c.(589-591)CGC>CAC	p.R197H	MMP7_uc009yxd.2_Missense_Mutation_p.R197H	NM_002423	NP_002414	P09237	MMP7_HUMAN	matrix metalloproteinase 7 preproprotein	197					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(1)	1	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		ATCCGTCCAGCGTTCATCCTC	0.478													T	102395690	C	T	102395690	3	4	141	1	0	0	0	0	1	0	0	0	9667	768	27	1	225	1	MMP7	11	102395690	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	13434650	102395690	32610826	119	79944											
BCO2	83875	broad.mit.edu	37	chr11	112070509	112070509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtgatatgttctattgCttctacagagaaagggaaac	10	7	2	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr11:112070509C>T	uc001pnf.2	+	6	941	c.824C>T	c.(823-825)GCT>GTT	p.A275V	BCO2_uc001pne.1_Missense_Mutation_p.A102V|BCO2_uc001png.2_Missense_Mutation_p.A202V|BCO2_uc001pnh.2_Missense_Mutation_p.A241V|BCO2_uc010rwt.1_Missense_Mutation_p.A170V|BCO2_uc009yyn.2_Missense_Mutation_p.A241V|BCO2_uc001pni.2_Missense_Mutation_p.A241V	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	275					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						TGTTCTATTGCTTCTACAGAG	0.443													T	112070509	C	T	112070509	3	4	141	1	0	0	0	0	1	0	0	0	1385	797	28	2	846	2	BCO2	11	112070509	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	9674819	112070509	22936007	120	79945											
PPFIBP1	8496	broad.mit.edu	37	chr12	27841317	27841317	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggacttggcagaatatgcGcccaatctcagaggcagtgg	14	9	1	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr12:27841317G>A	uc001ric.1	+	25	2852	c.2475G>A	c.(2473-2475)GCG>GCA	p.A825A	PPFIBP1_uc010sjr.1_Silent_p.A656A|PPFIBP1_uc001rib.1_Silent_p.A819A|PPFIBP1_uc001ria.2_Silent_p.A794A|PPFIBP1_uc001rid.1_Silent_p.A672A|PPFIBP1_uc001rif.1_Silent_p.A332A	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	825	SAM 3.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)					CAGAATATGCGCCCAATCTCA	0.473													A	27841317	G	A	27841317	2	1	141	1	0	0	0	0	0	0	0	1	12313	1074	38	1		1	PPFIBP1	12	27841317	Silent	SNP	G	TCGA-CD-8524-01A-11D-2340-08		27841317	106010578	121	79946											
IGFBP6	3489	broad.mit.edu	37	chr12	53495871	53495871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgaggtccctgctggtgtGtggatcggatgggcaagtcc	17	10	0	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr12:53495871G>A	uc001sbu.1	+	4	709	c.643G>A	c.(643-645)GTG>ATG	p.V215M	SOAT2_uc001sbv.2_5'Flank|SOAT2_uc009zms.2_5'Flank	NM_002178	NP_002169	P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	215	Thyroglobulin type-1.				negative regulation of cell proliferation|regulation of cell growth|signal transduction					ovary(1)	1						CTGCTGGTGTGTGGATCGGAT	0.637													A	53495871	G	A	53495871	3	1	141	1	0	0	0	0	1	0	0	0	7583	1377	48	4	657	4	IGFBP6	12	53495871	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	25654554	53495871	80356024	122	79947											
CAPS2	84698	broad.mit.edu	37	chr12	75693618	75693618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaataaaatcacaattaccGtgatacgatcctaccatcaa	3	10	2	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr12:75693618G>A	uc001sxk.3	-	10	1107	c.910C>T	c.(910-912)CGT>TGT	p.R304C	CAPS2_uc001sxm.3_Missense_Mutation_p.R72C|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.3_Nonsense_Mutation_p.R72*|CAPS2_uc001sxj.3_Nonsense_Mutation_p.R247*|CAPS2_uc001sxl.3_Missense_Mutation_p.R285C	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	304							calcium ion binding			ovary(2)	2						CACAATTACCGTGATACGATC	0.269													A	75693618	G	A	75693618	3	1	141	1	0	0	0	0	1	0	0	0	2638	1159	40	1	799	1	CAPS2	12	75693618	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	22197747	75693618	58158277	123	79948											
NAV3	89795	broad.mit.edu	37	chr12	78401201	78401201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatagccacccgaataccgCgacagtggcaccattcattt	7	14	1	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr12:78401201C>T	uc001syp.2	+	8	2056	c.1883C>T	c.(1882-1884)GCG>GTG	p.A628V	NAV3_uc001syo.2_Missense_Mutation_p.A628V	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	628						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CCGAATACCGCGACAGTGGCA	0.488										HNSCC(70;0.22)			T	78401201	C	T	78401201	3	4	141	1	0	0	0	0	1	0	0	0	10185	768	27	1	1913	1	NAV3	12	78401201	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	2707583	78401201	55450694	124	79949											
NAV3	89795	broad.mit.edu	37	chr12	78513089	78513089	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcatctctacaaagatctcCttcagatgcaggaaaaagca	6	10	4	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr12:78513089C>A	uc001syp.2	+	15	3286	c.3113C>A	c.(3112-3114)CCT>CAT	p.P1038H	NAV3_uc001syo.2_Missense_Mutation_p.P1038H|NAV3_uc010sub.1_Missense_Mutation_p.P538H|NAV3_uc009zsf.2_Missense_Mutation_p.P46H	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1038	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CAAAGATCTCCTTCAGATGCA	0.433										HNSCC(70;0.22)			A	78513089	C	A	78513089	3	1	141	1	0	0	0	0	1	0	0	0	10185	681	24	5	3171	5	NAV3	12	78513089	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	111888	78513089	55338806	125	79950											
C12orf12	196477	broad.mit.edu	37	chr12	91347392	91347392	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaagtgcagcttataaagttCtctctcttttcttcagcctc	5	11	4	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr12:91347392C>A	uc001tbj.2	-	1	1562	c.1128G>T	c.(1126-1128)GAG>GAT	p.E376D		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	376	Glu-rich.									central_nervous_system(1)|pancreas(1)	2						TTATAAAGTTCTCTCTCTTTT	0.418													A	91347392	C	A	91347392	3	1	141	1	0	0	0	0	1	0	0	0	1676	912	32	5	96	5	C12orf12	12	91347392	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	12834303	91347392	42504503	126	79951											
SGCG	6445	broad.mit.edu	37	chr13	23777913	23777913	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagtatgtctacaaaattgGcatttatggctggagaaagc	10	6	2	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr13:23777913G>T	uc001uom.2	+	2	235	c.80G>T	c.(79-81)GGC>GTC	p.G27V	SGCG_uc009zzv.2_Missense_Mutation_p.G27V|SGCG_uc009zzw.2_Missense_Mutation_p.G27V	NM_000231	NP_000222	Q13326	SGCG_HUMAN	gamma sarcoglycan	27	Cytoplasmic (Potential).				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma					0		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		TACAAAATTGGCATTTATGGC	0.438													T	23777913	G	T	23777913	3	4	141	1	0	0	0	0	1	0	0	0	14203	1203	42	5	82	5	SGCG	13	23777913	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08		23777913	91391965	127	79952											
EDNRB	1910	broad.mit.edu	37	chr13	78477310	78477310	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcatgaaagctgtcttcTgaacgggatgaagcaagcag	12	9	2	3			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr13:78477310T>G	uc001vko.2	-	3	1040	c.782A>C	c.(781-783)CAG>CCG	p.Q261P	EDNRB_uc001vkq.1_Missense_Mutation_p.Q261P|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.Q261P|EDNRB_uc001vkp.1_Missense_Mutation_p.Q344P	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	261	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	AGCTGTCTTCTGAACGGGATG	0.403													G	78477310	T	G	78477310	3	3	141	1	0	0	0	0	1	0	0	0	4920	1580	55	5	687	5	EDNRB	13	78477310	Missense_Mutation	SNP	T	TCGA-CD-8524-01A-11D-2340-08	54699397	78477310	36692568	128	79953											
DNAJC3	5611	broad.mit.edu	37	chr13	96416105	96416105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacgagaagcctgttgaaGctattagggtttgttctgaa	13	5	1	3			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr13:96416105G>A	uc001vmq.2	+	9	1081	c.973G>A	c.(973-975)GCT>ACT	p.A325T	DNAJC3_uc001vmr.2_Missense_Mutation_p.A274T	NM_006260	NP_006251	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	325	TPR 8.				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding				0	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			GCCTGTTGAAGCTATTAGGGT	0.398													A	96416105	G	A	96416105	3	1	141	1	0	0	0	0	1	0	0	0	4647	971	34	2	1007	2	DNAJC3	13	96416105	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	17938795	96416105	18753773	129	79954											
NUDT14	256281	broad.mit.edu	37	chr14	105643099	105643099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggcgctccacctcacccGcatacacagctgcgtgggaa	11	16	1	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr14:105643099G>A	uc010tyn.1	-	4	314	c.200C>T	c.(199-201)GCG>GTG	p.A67V	NUDT14_uc001yqi.2_RNA	NM_177533	NP_803877	O95848	NUD14_HUMAN	nudix-type motif 14	67	Nudix hydrolase.					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity			skin(1)	1		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CACCTCACCCGCATACACAGC	0.682										HNSCC(42;0.11)			A	105643099	G	A	105643099	3	1	141	1	0	0	0	0	1	0	0	0	10730	1087	38	1	476	1	NUDT14	14	105643099	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08		105643099	1706441	130	79955											
THBS1	7057	broad.mit.edu	37	chr15	39879632	39879632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaatggaattcagcagcGcggccgctcctgcgatagcc	13	13	1	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr15:39879632G>A	uc001zkh.2	+	8	1384	c.1205G>A	c.(1204-1206)CGC>CAC	p.R402H	THBS1_uc010bbi.2_5'Flank	NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	402	TSP type-1 1.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ATTCAGCAGCGCGGCCGCTCC	0.582													A	39879632	G	A	39879632	3	1	141	1	0	0	0	0	1	0	0	0	15850	1087	38	1	1231	1	THBS1	15	39879632	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08		39879632	62651760	131	79956											
IQCH	64799	broad.mit.edu	37	chr15	67664965	67664965	+	Frame_Shift_Del	DEL	C	C	-													agatactaaaggaatcacgtCagagacacctggagaatttt							TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr15:67664965delC	uc002aqo.1	+	9	1317	c.1270delC	c.(1270-1272)CAGfs	p.Q424fs	IQCH_uc010ujv.1_Frame_Shift_Del_p.Q243fs|IQCH_uc002aqn.1_Frame_Shift_Del_p.Q251fs|IQCH_uc002aqq.1_Frame_Shift_Del_p.Q172fs|IQCH_uc002aqp.1_Frame_Shift_Del_p.Q176fs	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	424										skin(3)|ovary(1)	4				Colorectal(3;0.0856)		GGAATCACGTCAGAGACACCT	0.463													-	67664965	C	-	67664965	7	5	141	1	0	1	0	1	0	0	0	0	7811	827	29	0	1432	0	IQCH	15	67664965	Frame_Shift_Del	DEL	C	TCGA-CD-8524-01A-11D-2340-08	27785333	67664965	34866427	132	79957											
ACAN	176	broad.mit.edu	37	chr15	89401508	89401508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccggaattcagtggcctaCcaagtggcatagctgaggtc	12	11	1	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr15:89401508C>T	uc010upo.1	+	12	6066	c.5692C>T	c.(5692-5694)CCA>TCA	p.P1898S	ACAN_uc010upp.1_Missense_Mutation_p.P1898S|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	1898					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGTGGCCTACCAAGTGGCAT	0.517													T	89401508	C	T	89401508	3	4	141	1	0	0	0	0	1	0	0	0	117	507	18	4	5734	4	ACAN	15	89401508	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	21736543	89401508	13129884	133	79958											
COQ7	10229	broad.mit.edu	37	chr16	19083427	19083427	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtcgggccagtcattcAggtgggtgcttcttcatctc	12	12	5	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr16:19083427A>G	uc002dfr.2	+	2	311	c.251A>G	c.(250-252)CAG>CGG	p.Q84R	COQ7_uc002dfs.2_Missense_Mutation_p.Q70R	NM_016138	NP_057222	Q99807	COQ7_HUMAN	COQ7 protein	84	1.|2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			skin(1)	1						CCAGTCATTCAGGTGGGTGCT	0.498											OREG0023656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	19083427	A	G	19083427	3	3	141	1	0	0	0	0	1	0	0	0	3750	202	7	3	257	3	COQ7	16	19083427	Missense_Mutation	SNP	A	TCGA-CD-8524-01A-11D-2340-08		19083427	71271326	134	79959											
JPH3	57338	broad.mit.edu	37	chr16	87678214	87678214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagcaagcagagctcctttCgcagcgaggcgggcatgagc	15	12	0	2	rs142136496		TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr16:87678214C>T	uc002fkd.2	+	2	987	c.733C>T	c.(733-735)CGC>TGC	p.R245C	JPH3_uc010vou.1_RNA	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	245	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GAGCTCCTTTCGCAGCGAGGC	0.662													T	87678214	C	T	87678214	3	4	141	1	0	0	0	0	1	0	0	0	7962	884	31	1	739	1	JPH3	16	87678214	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	68594787	87678214	2676539	135	79960											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	8	12	2	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:7578212G>A	uc002gim.2	-	6	831	c.637C>T	c.(637-639)CGA>TGA	p.R213*	TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	213	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7578212	G	A	7578212	4	1	141	1	0	0	0	0	0	1	0	0	16378	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08		7578212	73616998	136	79961											
MYH10	4628	broad.mit.edu	37	chr17	8526399	8526399	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caactccaccataacttcatCtccccgttcttctttgatac	2	16	4	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:8526399C>T	uc002gll.2	-	2	262	c.166G>A	c.(166-168)GAT>AAT	p.D56N	MYH10_uc002glm.2_Missense_Mutation_p.D56N|MYH10_uc010cnx.2_Missense_Mutation_p.D56N	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	56	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						ATAACTTCATCTCCCCGTTCT	0.448													T	8526399	C	T	8526399	3	4	141	1	0	0	0	0	1	0	0	0	10030	913	32	4	5924	4	MYH10	17	8526399	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	948187	8526399	72668811	137	79962											
MYH1	4619	broad.mit.edu	37	chr17	10399670	10399670	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccctccatcttcttcttgAgcctaatggcatcattcctg	5	15	4	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:10399670A>G	uc002gmo.2	-	34	4947	c.4853T>C	c.(4852-4854)CTC>CCC	p.L1618P	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1618	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						CTTCTTCTTGAGCCTAATGGC	0.493													G	10399670	A	G	10399670	3	3	141	1	0	0	0	0	1	0	0	0	10029	304	11	3	994	3	MYH1	17	10399670	Missense_Mutation	SNP	A	TCGA-CD-8524-01A-11D-2340-08	1873271	10399670	70795540	138	79963											
MYH3	4621	broad.mit.edu	37	chr17	10545981	10545981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagcttgttcttgaaggaGgtgtctgttgccttggggaa	14	6	2	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:10545981G>A	uc002gmq.1	-	15	1718	c.1641C>T	c.(1639-1641)ACC>ACT	p.T547T		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	547	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TCTTGAAGGAGGTGTCTGTTG	0.507													A	10545981	G	A	10545981	2	1	141	1	0	0	0	0	0	0	0	1	10036	987	35	4		4	MYH3	17	10545981	Silent	SNP	G	TCGA-CD-8524-01A-11D-2340-08	146311	10545981	70649229	139	79964											
DUSP14	11072	broad.mit.edu	37	chr17	35872423	35872423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaggactctcatggcccctCggatgatttccgagggagac	12	12	1	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:35872423C>T	uc002hnx.2	+	3	343	c.49C>T	c.(49-51)CGG>TGG	p.R17W	DUSP14_uc002hny.2_Missense_Mutation_p.R4W|DUSP14_uc002hnz.2_Missense_Mutation_p.R4W	NM_007026	NP_008957	O95147	DUS14_HUMAN	dual specificity phosphatase 14	17							MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Breast(25;0.00637)|Ovarian(249;0.15)				CATGGCCCCTCGGATGATTTC	0.567													T	35872423	C	T	35872423	3	4	141	1	0	0	0	0	1	0	0	0	4814	875	31	1	51	1	DUSP14	17	35872423	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	25326442	35872423	45322787	140	79965											
GPR179	440435	broad.mit.edu	37	chr17	36495312	36495312	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atccttacctgggtgctgttGagatcacacaggtgtgtgtt	12	8	1	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:36495312G>A	uc002hpz.2	-	2	912	c.891C>T	c.(889-891)CTC>CTT	p.L297L		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	297	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGGTGCTGTTGAGATCACACA	0.582													A	36495312	G	A	36495312	2	1	141	1	0	0	0	0	0	0	0	1	6674	1277	45	4		4	GPR179	17	36495312	Silent	SNP	G	TCGA-CD-8524-01A-11D-2340-08	622889	36495312	44699898	141	79966											
PLCD3	113026	broad.mit.edu	37	chr17	43192475	43192475	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcctacctgcctcccgaatGagtttcttggctttgcgctc	8	15	1	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:43192475G>T	uc002iib.2	-	11	1812	c.1698C>A	c.(1696-1698)CTC>CTA	p.L566L		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	566	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	CCTCCCGAATGAGTTTCTTGG	0.652													T	43192475	G	T	43192475	2	4	141	1	0	0	0	0	0	0	0	1	12032	1294	45	5		5	PLCD3	17	43192475	Silent	SNP	G	TCGA-CD-8524-01A-11D-2340-08	6697163	43192475	38002735	142	79967											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	141	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-CD-8524-01A-11D-2340-08	13193909	56386384	24808826	143	79968											
NUP85	79902	broad.mit.edu	37	chr17	73227457	73227457	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgccctgagcaactggtggTttgtggcccacctgacagac	12	13	0	3			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:73227457T>C	uc002jng.1	+	12	1377	c.1117T>C	c.(1117-1119)TTT>CTT	p.F373L	NUP85_uc010dgd.1_Missense_Mutation_p.F328L|NUP85_uc010wrv.1_Missense_Mutation_p.F327L|NUP85_uc002jnh.1_5'UTR	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	373					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CAACTGGTGGTTTGTGGCCCA	0.572													C	73227457	T	C	73227457	3	2	141	1	0	0	0	0	1	0	0	0	10770	1725	60	3	1163	3	NUP85	17	73227457	Missense_Mutation	SNP	T	TCGA-CD-8524-01A-11D-2340-08	16841073	73227457	7967753	144	79969											
UNC13D	201294	broad.mit.edu	37	chr17	73838569	73838569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtgatgacctgcgtgcGgtgggtctcctcctcgggga	17	11	1	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:73838569G>A	uc002jpp.2	-	6	894	c.514C>T	c.(514-516)CGC>TGC	p.R172C	UNC13D_uc010wsk.1_Missense_Mutation_p.R172C|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_5'UTR	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	172	C2 1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			upper_aerodigestive_tract(1)|skin(1)	2			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCTGCGTGCGGTGGGTCTCC	0.657									Familial_Hemophagocytic_Lymphohistiocytosis				A	73838569	G	A	73838569	3	1	141	1	0	0	0	0	1	0	0	0	16984	1116	39	1	2866	1	UNC13D	17	73838569	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	611112	73838569	7356641	145	79970											
CYTH1	9267	broad.mit.edu	37	chr17	76677070	76677070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactggttttttggagtcctCcacttcccggatactcagat	8	12	1	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:76677070C>T	uc002jvw.2	-	11	1014	c.943G>A	c.(943-945)GAG>AAG	p.E315K	CYTH1_uc010wtv.1_RNA	NM_017456	NP_059430	Q15438	CYH1_HUMAN	cytohesin 1 isoform 2	316	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						TTGGAGTCCTCCACTTCCCGG	0.393													T	76677070	C	T	76677070	3	4	141	1	0	0	0	0	1	0	0	0	4203	864	30	4	262	4	CYTH1	17	76677070	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	2838501	76677070	4518140	146	79971											
CSNK1D	1453	broad.mit.edu	37	chr17	80209374	80209374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtcaaaacgcaaggaacGgcagaaattcaggtatgtgg	13	7	2	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:80209374G>A	uc002kej.2	-	6	1082	c.766C>T	c.(766-768)CGT>TGT	p.R256C	SLC16A3_uc002kee.2_Intron|CSNK1D_uc002kef.2_Missense_Mutation_p.R256C|CSNK1D_uc002kei.2_Missense_Mutation_p.R256C|CSNK1D_uc010wvj.1_Missense_Mutation_p.R53C|CSNK1D_uc010dil.2_RNA|CSNK1D_uc002keh.2_Missense_Mutation_p.R121C|CSNK1D_uc010dim.1_Missense_Mutation_p.R53C	NM_001893	NP_001884	P48730	KC1D_HUMAN	casein kinase 1, delta isoform 1	256	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)	2	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			CGCAAGGAACGGCAGAAATTC	0.498													A	80209374	G	A	80209374	3	1	141	1	0	0	0	0	1	0	0	0	3952	1116	39	1	534	1	CSNK1D	17	80209374	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	3532304	80209374	985836	147	79972											
ZNF750	79755	broad.mit.edu	37	chr17	80789023	80789023	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagtgcgctggaggctgcCttgttggagaggtcgtacag	16	10	0	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:80789023C>T	uc002kga.2	-	2	1619	c.1308G>A	c.(1306-1308)AAG>AAA	p.K436K	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	436						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGGAGGCTGCCTTGTTGGAGA	0.632													T	80789023	C	T	80789023	2	4	141	1	0	0	0	0	0	0	0	1	18129	680	24	4		4	ZNF750	17	80789023	Silent	SNP	C	TCGA-CD-8524-01A-11D-2340-08	579649	80789023	406187	148	79973											
LAMA3	3909	broad.mit.edu	37	chr18	21422634	21422634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgggatcaagtgattgccGaaggccagattgagtttgac	14	8	1	4			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr18:21422634G>A	uc002kuq.2	+	29	3609	c.3523G>A	c.(3523-3525)GAA>AAA	p.E1175K	LAMA3_uc002kur.2_Missense_Mutation_p.E1175K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1175	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTGATTGCCGAAGGCCAGAT	0.537													A	21422634	G	A	21422634	3	1	141	1	0	0	0	0	1	0	0	0	8607	1059	37	1	3637	1	LAMA3	18	21422634	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08		21422634	56654614	149	79974											
TCEB3B	51224	broad.mit.edu	37	chr18	44561290	44561290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggctcctgggggccgtcgCgttttctgggaagccccagg	17	12	1	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr18:44561290C>T	uc002lcr.1	-	1	699	c.346G>A	c.(346-348)GCG>ACG	p.A116T	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	116					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GGGGCCGTCGCGTTTTCTGGG	0.662													T	44561290	C	T	44561290	3	4	141	1	0	0	0	0	1	0	0	0	15679	768	27	1	1919	1	TCEB3B	18	44561290	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	23138656	44561290	33515958	150	79975											
GTF2F1	2962	broad.mit.edu	37	chr19	6380962	6380963	+	Frame_Shift_Del	DEL	CC	CC	-													gcagggtggaggaggtgctgCcaccctctgcgctgggcgtg							TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr19:6380962_6380963delCC	uc002meq.2	-	11	1468_1469	c.1183_1184delGG	c.(1183-1185)GGCfs	p.G395fs	GTF2F1_uc010xjb.1_Frame_Shift_Del_p.G216fs|GTF2F1_uc010xjc.1_Frame_Shift_Del_p.G310fs	NM_002096	NP_002087	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1,	395					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding				0						GGAGGTGCTGCCACCCTCTGCG	0.683													-	6380963	CC	-	6380962	7	5	141	1	0	1	0	1	0	0	0	0	6858	739	26	0	381	0	GTF2F1	19	6380962	Frame_Shift_Del	DEL	CC	TCGA-CD-8524-01A-11D-2340-08		6380962	52748021	151	79976											
ACTL9	284382	broad.mit.edu	37	chr19	8808509	8808509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcgtagacagacagcacCgactgcgatgccacgtacat	12	12	0	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr19:8808509C>T	uc002mkl.2	-	1	664	c.543G>A	c.(541-543)TCG>TCA	p.S181S		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	181						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						CAGACAGCACCGACTGCGATG	0.657													T	8808509	C	T	8808509	2	4	141	1	0	0	0	0	0	0	0	1	203	639	23	1		1	ACTL9	19	8808509	Silent	SNP	C	TCGA-CD-8524-01A-11D-2340-08	2427547	8808509	50320474	152	79977											
MUC16	94025	broad.mit.edu	37	chr19	9015690	9015690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgcatgtcctcctcgtaCttcaggttggtgatggtgaa	11	9	1	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr19:9015690C>T	uc002mkp.2	-	29	38337	c.38133G>A	c.(38131-38133)AAG>AAA	p.K12711K	MUC16_uc010xki.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCTCCTCGTACTTCAGGTTGG	0.517													T	9015690	C	T	9015690	2	4	141	1	0	0	0	0	0	0	0	1	9973	564	20	4		4	MUC16	19	9015690	Silent	SNP	C	TCGA-CD-8524-01A-11D-2340-08	207181	9015690	50113293	153	79978											
PRX	57716	broad.mit.edu	37	chr19	40900469	40900469	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgctcggcccctgggggctGctcctcagcaccctcgcccc	11	21	1	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr19:40900469G>T	uc002onr.2	-	7	4059	c.3790C>A	c.(3790-3792)CAG>AAG	p.Q1264K	PRX_uc002onq.2_Missense_Mutation_p.Q1125K|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1264					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTGGGGGCTGCTCCTCAGCA	0.711													T	40900469	G	T	40900469	3	4	141	1	0	0	0	0	1	0	0	0	12642	1328	46	5	599	5	PRX	19	40900469	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	31884779	40900469	18228514	154	79979											
ZNF284	342909	broad.mit.edu	37	chr19	44590963	44590963	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtaagtttaatcttgacttGcaccagagggtccacacggg	11	9	1	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr19:44590963G>T	uc002oyg.1	+	5	1548	c.1332G>T	c.(1330-1332)TTG>TTT	p.L444F	ZNF284_uc010ejd.2_RNA	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	zinc finger protein 284	444	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				ATCTTGACTTGCACCAGAGGG	0.433													T	44590963	G	T	44590963	3	4	141	1	0	0	0	0	1	0	0	0	17818	1310	46	5	1346	5	ZNF284	19	44590963	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	3690494	44590963	14538020	155	79980											
ZNF613	79898	broad.mit.edu	37	chr19	52448840	52448840	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcatacaggataaagactcTgttaacatggtgactctgca	8	9	3	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr19:52448840T>G	uc002pxz.1	+	6	2127	c.1704T>G	c.(1702-1704)TCT>TCG	p.S568S	ZNF613_uc002pya.1_Silent_p.S532S	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		ATAAAGACTCTGTTAACATGG	0.443													G	52448840	T	G	52448840	2	3	141	1	0	0	0	0	0	0	0	1	18035	1567	55	5		5	ZNF613	19	52448840	Silent	SNP	T	TCGA-CD-8524-01A-11D-2340-08	7857877	52448840	6680143	156	79981											
TTYH1	57348	broad.mit.edu	37	chr19	54930476	54930476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattgtcgcccttctcgccGgctggtaatggggccccagg	14	14	1	0			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr19:54930476G>A	uc002qfq.2	+	2	393	c.301G>A	c.(301-303)GGC>AGC	p.G101S	TTYH1_uc010yey.1_Missense_Mutation_p.G150S|TTYH1_uc002qfr.2_Missense_Mutation_p.G101S|TTYH1_uc002qft.2_Missense_Mutation_p.G101S|TTYH1_uc002qfu.1_5'UTR	NM_020659	NP_065710	Q9H313	TTYH1_HUMAN	tweety 1 isoform 1	101	Helical; Name=2; (Potential).				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CCTTCTCGCCGGCTGGTAATG	0.716													A	54930476	G	A	54930476	3	1	141	1	0	0	0	0	1	0	0	0	16736	1116	39	1	307	1	TTYH1	19	54930476	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	2481636	54930476	4198507	157	79982											
SBK2	646643	broad.mit.edu	37	chr19	56041244	56041244	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcccccgcagaagcgcGtcggccgcggcggccaggcc	16	18	0	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr19:56041244G>A	uc010ygc.1	-	3	903	c.903C>T	c.(901-903)GAC>GAT	p.D301D		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	SH3-binding domain kinase family, member 2	301	Protein kinase.						ATP binding|protein serine/threonine kinase activity				0						GCAGAAGCGCGTCGGCCGCGG	0.746													A	56041244	G	A	56041244	2	1	141	1	0	0	0	0	0	0	0	1	13861	1136	40	1		1	SBK2	19	56041244	Silent	SNP	G	TCGA-CD-8524-01A-11D-2340-08	1110768	56041244	3087739	158	79983											
ZNF446	55663	broad.mit.edu	37	chr19	58989053	58989053	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctccctgcagcccagaagaCagaggaaccacttgggagcc	12	14	0	3			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr19:58989053C>G	uc002qsz.2	+	3	509	c.392C>G	c.(391-393)ACA>AGA	p.T131R	ZNF446_uc002qta.2_Missense_Mutation_p.T131R|ZNF446_uc010eur.2_Missense_Mutation_p.T131R	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	131					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCCCAGAAGACAGAGGAACCA	0.607													G	58989053	C	G	58989053	3	3	141	1	0	0	0	0	1	0	0	0	17916	478	17	5	398	5	ZNF446	19	58989053	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	2947809	58989053	139930	159	79984											
NEURL2	140825	broad.mit.edu	37	chr20	44519149	44519149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagccctggccggctgcggCccaccaggcggtcccgggga	17	16	0	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr20:44519149C>T	uc002xqg.1	-	1	753	c.482G>A	c.(481-483)GGC>GAC	p.G161D	C20orf165_uc002xqf.2_5'Flank|CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN	neuralized-like protein 2	161	NHR.				intracellular signal transduction						0		Myeloproliferative disorder(115;0.0122)				CCGGCTGCGGCCCACCAGGCG	0.672													T	44519149	C	T	44519149	3	4	141	1	0	0	0	0	1	0	0	0	10346	739	26	2	383	2	NEURL2	20	44519149	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08		44519149	18506371	160	79985											
ZBTB46	140685	broad.mit.edu	37	chr20	62421650	62421650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccgagatgagagcttccGtgctgctgctggacgaggcg	17	11	0	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr20:62421650G>A	uc002ygv.1	-	2	662	c.461C>T	c.(460-462)ACG>ATG	p.T154M	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GAGAGCTTCCGTGCTGCTGCT	0.632													A	62421650	G	A	62421650	3	1	141	1	0	0	0	0	1	0	0	0	17544	1145	40	1	1324	1	ZBTB46	20	62421650	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	17902501	62421650	603870	161	79986											
OLIG2	10215	broad.mit.edu	37	chr21	34399314	34399314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaccccgagtgactgcccGccggagctgagcgccgagct	13	17	0	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr21:34399314G>A	uc002yqx.1	+	2	302	c.144G>A	c.(142-144)CCG>CCA	p.P48P		NM_005806	NP_005797	Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	48						cytoplasm|nucleus|plasma membrane	DNA binding			central_nervous_system(2)	2						GTGACTGCCCGCCGGAGCTGA	0.682			T	TRA@	T-ALL								A	34399314	G	A	34399314	2	1	141	1	0	0	0	0	0	0	0	1	10861	1074	38	1		1	OLIG2	21	34399314	Silent	SNP	G	TCGA-CD-8524-01A-11D-2340-08		34399314	13730581	162	79987											
SMARCB1	6598	broad.mit.edu	37	chr22	24135750	24135750	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgtctgttacagatcaCggatacacgactctagccac	8	11	3	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr22:24135750C>T	uc002zyb.2	+	3	444	c.237C>T	c.(235-237)CAC>CAT	p.H79H	SMARCB1_uc002zyg.2_Silent_p.H79H|SMARCB1_uc011ajb.1_Silent_p.H70H|SMARCB1_uc002zya.2_Silent_p.H79H|SMARCB1_uc002zyc.2_Silent_p.H70H|SMARCB1_uc002zyd.2_Silent_p.H70H|SMARCB1_uc002zye.1_Silent_p.H42H|SMARCB1_uc002zyf.1_RNA|SMARCB1_uc010gue.1_Intron	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	79					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TTACAGATCACGGATACACGA	0.537			D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis				T	24135750	C	T	24135750	2	4	141	1	0	0	0	0	0	0	0	1	14774	535	19	1		1	SMARCB1	22	24135750	Silent	SNP	C	TCGA-CD-8524-01A-11D-2340-08		24135750	27168816	163	79988											
ELFN2	114794	broad.mit.edu	37	chr22	37770469	37770469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggcaggtgtggttgaagCggcggctgttgcgcagcgag	19	8	1	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr22:37770469C>T	uc003asq.3	-	3	1892	c.1106G>A	c.(1105-1107)CGC>CAC	p.R369H		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	369	Fibronectin type-III.|Extracellular (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					GTGGTTGAAGCGGCGGCTGTT	0.617													T	37770469	C	T	37770469	3	4	141	1	0	0	0	0	1	0	0	0	5058	768	27	1	1360	1	ELFN2	22	37770469	Missense_Mutation	SNP	C	TCGA-CD-8524-01A-11D-2340-08	13634719	37770469	13534097	164	79989											
SHROOM2	357	broad.mit.edu	37	chrX	9864517	9864517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcctcaacgctcacagcGcagcggagaaggcagggact	13	13	2	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chrX:9864517G>A	uc004csu.1	+	4	2659	c.2569G>A	c.(2569-2571)GCA>ACA	p.A857T		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	857					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				CGCTCACAGCGCAGCGGAGAA	0.652													A	9864517	G	A	9864517	3	1	141	1	0	0	0	0	1	0	0	0	14294	1087	38	1	2583	1	SHROOM2	23	9864517	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08		9864517	145406043	165	79990											
PHEX	5251	broad.mit.edu	37	chrX	22244602	22244602	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaaaatattgctgataatGgaggcctgcgggaagctttt	13	5	0	2			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chrX:22244602G>T	uc004dah.2	+	19	2145	c.1942G>T	c.(1942-1944)GGA>TGA	p.G648*	PHEX_uc011mjr.1_Nonsense_Mutation_p.G648*|PHEX_uc011mjs.1_Nonsense_Mutation_p.G551*	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	648					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3						TGCTGATAATGGAGGCCTGCG	0.418													T	22244602	G	T	22244602	4	4	141	1	0	0	0	0	0	1	0	0	11819	1349	47	5	2016	5	PHEX	23	22244602	Nonsense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	12380085	22244602	133025958	166	79991											
DMD	1756	broad.mit.edu	37	chrX	32490330	32490330	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcatagtcggtgacactaAgttgaggtatggagagtttg	13	4	1	3			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chrX:32490330A>C	uc004dda.1	-	22	3144	c.2900T>G	c.(2899-2901)CTT>CGT	p.L967R	DMD_uc004dcz.2_Missense_Mutation_p.L844R|DMD_uc004dcy.1_Missense_Mutation_p.L963R|DMD_uc004ddb.1_Missense_Mutation_p.L959R|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	967	Spectrin 6.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGTGACACTAAGTTGAGGTAT	0.443													C	32490330	A	C	32490330	3	2	141	1	0	0	0	0	1	0	0	0	4580	72	3	5	8632	5	DMD	23	32490330	Missense_Mutation	SNP	A	TCGA-CD-8524-01A-11D-2340-08	10245728	32490330	122780230	167	79992											
ATRX	546	broad.mit.edu	37	chrX	76939922	76939922	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgttacatgcagtgaccaAgtccaacaaaggctctgggt	11	10	1	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chrX:76939922A>C	uc004ecp.3	-	9	1058	c.826T>G	c.(826-828)TTG>GTG	p.L276V	ATRX_uc004ecq.3_Missense_Mutation_p.L238V|ATRX_uc004eco.3_Missense_Mutation_p.L61V|ATRX_uc004ecr.2_Missense_Mutation_p.L237V|ATRX_uc010nlx.1_Missense_Mutation_p.L276V|ATRX_uc010nly.1_Missense_Mutation_p.L221V	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	276	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	GCAGTGACCAAGTCCAACAAA	0.373			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76939922	A	C	76939922	3	2	141	1	0	0	0	0	1	0	0	0	1208	69	3	5	6760	5	ATRX	23	76939922	Missense_Mutation	SNP	A	TCGA-CD-8524-01A-11D-2340-08	44449592	76939922	78330638	168	79993											
TRPC5	7224	broad.mit.edu	37	chrX	111195328	111195328	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctccacagcgcccaccacTtccttgcgtatggcatagag	9	15	0	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chrX:111195328T>G	uc004epl.1	-	2	1240	c.321A>C	c.(319-321)GAA>GAC	p.E107D	TRPC5_uc004epm.1_Missense_Mutation_p.E107D	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	107	ANK 3.|Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						CGCCCACCACTTCCTTGCGTA	0.532													G	111195328	T	G	111195328	3	3	141	1	0	0	0	0	1	0	0	0	16579	1606	56	5	2640	5	TRPC5	23	111195328	Missense_Mutation	SNP	T	TCGA-CD-8524-01A-11D-2340-08	34255406	111195328	44075232	169	79994											
ODZ1	10178	broad.mit.edu	37	chrX	124030034	124030034	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccatgccgagaaacgctgtGcatgtctgtttggtagccag	13	10	1	1			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chrX:124030034G>T	uc004euj.2	-	2	338	c.274C>A	c.(274-276)CAC>AAC	p.H92N	ODZ1_uc011muj.1_Missense_Mutation_p.H92N|ODZ1_uc010nqy.2_Missense_Mutation_p.H92N	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	92	Teneurin N-terminal.|Cytoplasmic (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						GAAACGCTGTGCATGTCTGTT	0.468													T	124030034	G	T	124030034	3	4	141	1	0	0	0	0	1	0	0	0	10834	1319	46	5	8048	5	ODZ1	23	124030034	Missense_Mutation	SNP	G	TCGA-CD-8524-01A-11D-2340-08	12834706	124030034	31240526	170	79995											
GPATCH3	63906	broad.mit.edu	37	chr1	27223851	27223851	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcctcaggctctccacAggggctggctggtatatctg	11	12	4	0			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr1:27223851A>G	uc001bne.2	-	2	846	c.817T>C	c.(817-819)TGT>CGT	p.C273R	GPATCH3_uc009vsp.1_Missense_Mutation_p.C84R	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	G patch domain containing 3	273	Glu-rich.					intracellular	nucleic acid binding				0		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GGCTCTCCACAGGGGCTGGCT	0.527													G	27223851	A	G	27223851	3	3	142	1	0	0	0	0	1	0	0	0	6592	188	7	3	784	3	GPATCH3	1	27223851	Missense_Mutation	SNP	A	TCGA-CD-8525-01A-11D-2340-08		27223851	222026770	1	79996											
ERI3	79033	broad.mit.edu	37	chr1	44785405	44785405	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttagctttaggatggggaaCtcgatgatttcctggagtgc	13	6	0	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr1:44785405C>T	uc001clt.2	-	4	742	c.501G>A	c.(499-501)GAG>GAA	p.E167E	ERI3_uc010okv.1_5'UTR|ERI3_uc009vxg.2_Silent_p.E167E|ERI3_uc010okw.1_Silent_p.E89E|ERI3_uc001clu.2_Silent_p.E89E	NM_024066	NP_076971	O43414	ERI3_HUMAN	prion protein interacting protein	167	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding			ovary(2)|large_intestine(1)	3						GGATGGGGAACTCGATGATTT	0.423													T	44785405	C	T	44785405	2	4	142	1	0	0	0	0	0	0	0	1	5229	564	20	4		4	ERI3	1	44785405	Silent	SNP	C	TCGA-CD-8525-01A-11D-2340-08	17561554	44785405	204465216	2	79997											
SPATA1	64173	broad.mit.edu	37	chr1	84991560	84991560	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaattatatttgcttcctgtAatggaccatttaggaaatgt	8	5	0	0			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr1:84991560A>G	uc001djz.1	+	6	613	c.414A>G	c.(412-414)GTA>GTG	p.V138V	SPATA1_uc001djx.2_Silent_p.V138V|SPATA1_uc001djy.1_RNA	NM_001081472	NP_001074941			spermatogenesis associated 1											central_nervous_system(1)	1				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		TGCTTCCTGTAATGGACCATT	0.333													G	84991560	A	G	84991560	2	3	142	1	0	0	0	0	0	0	0	1	14997	349	13	3		3	SPATA1	1	84991560	Silent	SNP	A	TCGA-CD-8525-01A-11D-2340-08	40206155	84991560	164259061	3	79998											
ADAM30	11085	broad.mit.edu	37	chr1	120438121	120438121	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagcatttaatacactttttTtatatattacaaatctgcct	3	7	1	0			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr1:120438121T>A	uc001eij.2	-	1	993	c.839A>T	c.(838-840)AAA>ATA	p.K280I		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	280	Peptidase M12B.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TACACTTTTTTTATATATTAC	0.343													A	120438121	T	A	120438121	3	1	142	1	0	0	0	0	1	0	0	0	248	1841	64	5	1537	5	ADAM30	1	120438121	Missense_Mutation	SNP	T	TCGA-CD-8525-01A-11D-2340-08	35446561	120438121	128812500	4	79999											
RC3H1	149041	broad.mit.edu	37	chr1	173931083	173931083	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgggtatataggtgggtacTgctgtggctgtgtgccatac	15	6	0	0			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr1:173931083T>C	uc001gju.3	-	11	2069	c.1982A>G	c.(1981-1983)CAG>CGG	p.Q661R	RC3H1_uc010pms.1_Missense_Mutation_p.Q661R|RC3H1_uc001gjv.2_Missense_Mutation_p.Q661R|RC3H1_uc010pmt.1_Missense_Mutation_p.Q661R	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	661	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						AGGTGGGTACTGCTGTGGCTG	0.498													C	173931083	T	C	173931083	3	2	142	1	0	0	0	0	1	0	0	0	13166	1580	55	3	1455	3	RC3H1	1	173931083	Missense_Mutation	SNP	T	TCGA-CD-8525-01A-11D-2340-08	53492962	173931083	75319538	5	80000											
ACTN2	88	broad.mit.edu	37	chr1	236902782	236902782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgctgcagaccaagctgCggatcagcaaccgtcctgcc	10	16	1	1	rs1150181		TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr1:236902782C>T	uc001hyf.2	+	10	1261	c.1057C>T	c.(1057-1059)CGG>TGG	p.R353W	ACTN2_uc001hyg.2_Missense_Mutation_p.R145W|ACTN2_uc009xgi.1_Missense_Mutation_p.R353W|ACTN2_uc010pxu.1_Intron|ACTN2_uc001hyh.2_Missense_Mutation_p.R41W	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	353	Spectrin 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GACCAAGCTGCGGATCAGCAA	0.612													T	236902782	C	T	236902782	3	4	142	1	0	0	0	0	1	0	0	0	205	759	27	1	1095	1	ACTN2	1	236902782	Missense_Mutation	SNP	C	TCGA-CD-8525-01A-11D-2340-08	62971699	236902782	12347839	6	80001											
OR2L8	391190	broad.mit.edu	37	chr1	248112505	248112505	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaagcactacttttggcaTctatggcctatgatcgttac	8	10	1	2			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr1:248112505T>G	uc001idt.1	+	1	346	c.346T>G	c.(346-348)TCT>GCT	p.S116A	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	116	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACTTTTGGCATCTATGGCCTA	0.438													G	248112505	T	G	248112505	3	3	142	1	0	0	0	0	1	0	0	0	11009	1435	50	5	348	5	OR2L8	1	248112505	Missense_Mutation	SNP	T	TCGA-CD-8525-01A-11D-2340-08	11209723	248112505	1138116	7	80002											
OR2M4	26245	broad.mit.edu	37	chr1	248402353	248402353	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcactggcattgatggaAaatatttccatggttctcct	7	9	2	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr1:248402353A>C	uc010pzh.1	+	1	123	c.123A>C	c.(121-123)GAA>GAC	p.E41D		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M,	41	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATTGATGGAAAATATTTCCA	0.473													C	248402353	A	C	248402353	3	2	142	1	0	0	0	0	1	0	0	0	11012	11	1	5	125	5	OR2M4	1	248402353	Missense_Mutation	SNP	A	TCGA-CD-8525-01A-11D-2340-08	289848	248402353	848268	8	80003											
PXDN	7837	broad.mit.edu	37	chr2	1677555	1677555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgtccagcaagtttaggCgggaatctgtcttcatgctc	10	11	3	0			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr2:1677555C>T	uc002qxa.2	-	9	942	c.878G>A	c.(877-879)CGC>CAC	p.R293H	PXDN_uc002qxb.1_Missense_Mutation_p.R293H|PXDN_uc002qxc.1_Missense_Mutation_p.R110H	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	293	Ig-like C2-type 1.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAAGTTTAGGCGGGAATCTGT	0.507													T	1677555	C	T	1677555	3	4	142	1	0	0	0	0	1	0	0	0	12847	768	27	1	3621	1	PXDN	2	1677555	Missense_Mutation	SNP	C	TCGA-CD-8525-01A-11D-2340-08		1677555	241521818	9	80004											
WDR35	57539	broad.mit.edu	37	chr2	20113327	20113327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatcattcctttatcccaCtggactatggcataaggggc	8	10	1	0			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr2:20113327C>T	uc002rdi.2	-	28	3646	c.3538G>A	c.(3538-3540)GTG>ATG	p.V1180M	WDR35_uc002rdj.2_Missense_Mutation_p.V1169M|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_3'UTR	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	1180										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTATCCCACTGGACTATGG	0.368													T	20113327	C	T	20113327	3	4	142	1	0	0	0	0	1	0	0	0	17286	565	20	4	11	4	WDR35	2	20113327	Missense_Mutation	SNP	C	TCGA-CD-8525-01A-11D-2340-08	18435772	20113327	223086046	10	80005											
C1QL2	165257	broad.mit.edu	37	chr2	119914557	119914557	+	Splice_Site	DEL	C	C	-													tgcaatggcgctggcccggaCctggggacaagcggtgggag							TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr2:119914556_119914556AC>A	uc002tlo.2	-	2	1311	c.685_splice	c.e2-1	p.V229_splice		NM_182528	NP_872334	Q7Z5L3	C1QL2_HUMAN	Homo sapiens complement component 1, q subcomponent-like 2 (C1QL2), mRNA.	229	C1q.					collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						GCTGGCCCGGACCTGGGGACA	0.657										HNSCC(49;0.14)			-	119914557	C	-	119914557	8	5	142	1	0	1	0	1	0	0	1	0	1959	521	18	0	182	0	C1QL2	2	119914557	Splice_Site	DEL	C	TCGA-CD-8525-01A-11D-2340-08	99801230	119914557	123284816	11	80006											
BAZ2B	29994	broad.mit.edu	37	chr2	160303427	160303427	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgaagcagtagtggatagtaCagatgtgttgataccaatta	11	4	0	3			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr2:160303427C>G	uc002uao.2	-	6	914	c.562G>C	c.(562-564)GTA>CTA	p.V188L	BAZ2B_uc002uap.2_Missense_Mutation_p.V186L|BAZ2B_uc002uas.1_Missense_Mutation_p.V125L|BAZ2B_uc002uau.1_Missense_Mutation_p.V186L|BAZ2B_uc002uaq.1_Missense_Mutation_p.V116L|BAZ2B_uc002uat.3_Missense_Mutation_p.V125L|BAZ2B_uc010fop.1_Missense_Mutation_p.V186L	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	188	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						GTGGATAGTACAGATGTGTTG	0.318													G	160303427	C	G	160303427	3	3	142	1	0	0	0	0	1	0	0	0	1332	478	17	5	6072	5	BAZ2B	2	160303427	Missense_Mutation	SNP	C	TCGA-CD-8525-01A-11D-2340-08	40388870	160303427	82895946	12	80007											
XIRP2	129446	broad.mit.edu	37	chr2	168105100	168105100	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgcaacaatattcccaaaaaGaagcctcgaactctcagaat	5	11	1	2			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr2:168105100G>C	uc002udx.2	+	8	7216	c.7198G>C	c.(7198-7200)GAA>CAA	p.E2400Q	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E2225Q|XIRP2_uc010fpq.2_Missense_Mutation_p.E2178Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2225					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TTCCCAAAAAGAAGCCTCGAA	0.473													C	168105100	G	C	168105100	3	2	142	1	0	0	0	0	1	0	0	0	17427	943	33	5	7228	5	XIRP2	2	168105100	Missense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08	7801673	168105100	75094273	13	80008											
TTN	7273	broad.mit.edu	37	chr2	179407078	179407078	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agccacacggaacacatactCatttccttcggtgagtctgg	9	12	2	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr2:179407078C>T	uc010zfg.1	-	298	89925	c.89701G>A	c.(89701-89703)GAG>AAG	p.E29901K	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E23596K|TTN_uc010zfi.1_Missense_Mutation_p.E23529K|TTN_uc010zfj.1_Missense_Mutation_p.E23404K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30828							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACACATACTCATTTCCTTCG	0.512													T	179407078	C	T	179407078	3	4	142	1	0	0	0	0	1	0	0	0	16732	835	29	4	10630	4	TTN	2	179407078	Missense_Mutation	SNP	C	TCGA-CD-8525-01A-11D-2340-08	11301978	179407078	63792295	14	80009											
DGKD	8527	broad.mit.edu	37	chr2	234356752	234356752	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtacagcagattctcttctAtgaagactcggttgcagccc	10	11	2	3			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr2:234356752A>G	uc002vui.1	+	13	1451	c.1439A>G	c.(1438-1440)TAT>TGT	p.Y480C	DGKD_uc002vuj.1_Missense_Mutation_p.Y436C|DGKD_uc010fyh.1_Missense_Mutation_p.Y347C|DGKD_uc010fyi.1_RNA	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	480					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ATTCTCTTCTATGAAGACTCG	0.562													G	234356752	A	G	234356752	3	3	142	1	0	0	0	0	1	0	0	0	4467	449	16	3	1513	3	DGKD	2	234356752	Missense_Mutation	SNP	A	TCGA-CD-8525-01A-11D-2340-08	54949674	234356752	8842621	15	80010											
CCDC71	64925	broad.mit.edu	37	chr3	49200783	49200783	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcagctttggccagtgttcGagctaccttggcctgggctg	14	11	0	0			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr3:49200783G>A	uc003cwg.3	-	2	997	c.859C>T	c.(859-861)CGA>TGA	p.R287*		NM_022903	NP_075054	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	287	Potential.									ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCAGTGTTCGAGCTACCTTG	0.547													A	49200783	G	A	49200783	4	1	142	1	0	0	0	0	0	1	0	0	2844	1066	37	1	548	1	CCDC71	3	49200783	Nonsense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08		49200783	148821647	16	80011											
TMEM45A	55076	broad.mit.edu	37	chr3	100275725	100275725	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgtatttcttctttgggctGttgggtgtggcagatatctt	12	5	3	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr3:100275725G>C	uc003dtz.1	+	3	625	c.312G>C	c.(310-312)CTG>CTC	p.L104L	TMEM45A_uc003dua.1_Silent_p.L120L	NM_018004	NP_060474	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	104	Helical; (Potential).					integral to membrane				skin(2)|ovary(1)	3						TCTTTGGGCTGTTGGGTGTGG	0.428													C	100275725	G	C	100275725	2	2	142	1	0	0	0	0	0	0	0	1	16166	1364	48	5		5	TMEM45A	3	100275725	Silent	SNP	G	TCGA-CD-8525-01A-11D-2340-08	51074942	100275725	97746705	17	80012											
ALG1L	200810	broad.mit.edu	37	chr3	125648331	125648331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacccagctctcatcccatCggagctgctgcgactcccgc	9	19	1	0	rs145742427	byFrequency	TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr3:125648331C>T	uc003eig.1	-	6	592	c.428G>A	c.(427-429)CGA>CAA	p.R143Q	LOC100125556_uc003eif.3_RNA|LOC100125556_uc003eid.3_RNA|LOC100125556_uc003eie.3_RNA	NM_001015050	NP_001015050	Q6GMV1	ALG1L_HUMAN	asparagine-linked glycosylation 1-like	143							transferase activity, transferring glycosyl groups				0						CTCATCCCATCGGAGCTGCTG	0.532													T	125648331	C	T	125648331	3	4	142	1	0	0	0	0	1	0	0	0	517	884	31	1	139	1	ALG1L	3	125648331	Missense_Mutation	SNP	C	TCGA-CD-8525-01A-11D-2340-08	25372606	125648331	72374099	18	80013											
PIK3CB	5291	broad.mit.edu	37	chr3	138426123	138426123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattggattcaacatttcttCgagttcatctaaaacatgca	5	9	4	0			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr3:138426123C>T	uc011bmq.1	-	9	1408	c.1408G>A	c.(1408-1410)GAA>AAA	p.E470K	PIK3CB_uc011bmn.1_5'UTR|PIK3CB_uc011bmo.1_Intron|PIK3CB_uc011bmp.1_Missense_Mutation_p.E74K	NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	470	C2 PI3K-type.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						AACATTTCTTCGAGTTCATCT	0.313													T	138426123	C	T	138426123	3	4	142	1	0	0	0	0	1	0	0	0	11914	893	31	1	1858	1	PIK3CB	3	138426123	Missense_Mutation	SNP	C	TCGA-CD-8525-01A-11D-2340-08	12777792	138426123	59596307	19	80014											
PACRGL	133015	broad.mit.edu	37	chr4	20714515	20714515	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaagctattcctttgctaccTagactgattcctgtgctaaa	6	10	0	2			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr4:20714515T>A	uc010iek.2	+	6	862	c.471T>A	c.(469-471)CCT>CCA	p.P157P	PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Silent_p.P205P|PACRGL_uc003gpz.2_Silent_p.P157P|PACRGL_uc011bxm.1_Silent_p.P104P|PACRGL_uc003gqa.2_Intron|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Silent_p.P157P|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Intron|PACRGL_uc003gpy.2_Silent_p.P104P	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like isoform 1	157							binding				0						CTTTGCTACCTAGACTGATTC	0.348													A	20714515	T	A	20714515	2	1	142	1	0	0	0	0	0	0	0	1	11371	1509	53	5		5	PACRGL	4	20714515	Silent	SNP	T	TCGA-CD-8525-01A-11D-2340-08		20714515	170439761	20	80015											
RANBP3L	202151	broad.mit.edu	37	chr5	36249774	36249777	+	Frame_Shift_Del	DEL	CTGT	CTGT	-													attcatgaacaggcaaccgaCtgtctgtgagtccaactaga							TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr5:36249773_36249776ACTGT>A	uc011cow.2	-	14	1946_1949	c.1453_1456ACAGT>T	c.(1453-1458)cagtcgfs	p.Q485fs	RANBP3L_uc003jkh.3_Frame_Shift_Del_p.Q460fs	NM_001161429	NP_001154901	Q86VV4	RNB3L_HUMAN	Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA.	460					intracellular transport			p.R459fs*>6(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CAGGCAACCGACTGTCTGTGAGTC	0.319													-	36249777	CTGT	-	36249774	7	5	142	1	0	1	0	1	0	0	0	0	13030	564	20	0	21	0	RANBP3L	5	36249774	Frame_Shift_Del	DEL	CTGT	TCGA-CD-8525-01A-11D-2340-08		36249774	144665486	21	80016											
HEATR7B2	133558	broad.mit.edu	37	chr5	41000403	41000403	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cggtctaataccccatagagCtcctggaggcccaaaaaggg	11	12	1	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr5:41000403C>G	uc003jmj.3	-	39	4891	c.4401G>C	c.(4399-4401)GAG>GAC	p.E1467D	HEATR7B2_uc003jmi.3_Missense_Mutation_p.E1022D	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1467							binding			ovary(6)|central_nervous_system(2)	8						CCCCATAGAGCTCCTGGAGGC	0.488													G	41000403	C	G	41000403	3	3	142	1	0	0	0	0	1	0	0	0	7035	796	28	5	372	5	HEATR7B2	5	41000403	Missense_Mutation	SNP	C	TCGA-CD-8525-01A-11D-2340-08	4750629	41000403	139914857	22	80017											
HCN1	348980	broad.mit.edu	37	chr5	45303801	45303801	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacatttttttacccacggcTccttctcgtatgatataatc	4	11	1	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr5:45303801T>C	uc003jok.2	-	6	1543	c.1518A>G	c.(1516-1518)GGA>GGG	p.G506G		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	506	cAMP.|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						TACCCACGGCTCCTTCTCGTA	0.403													C	45303801	T	C	45303801	2	2	142	1	0	0	0	0	0	0	0	1	6996	1538	54	3		3	HCN1	5	45303801	Silent	SNP	T	TCGA-CD-8525-01A-11D-2340-08	4303398	45303801	135611459	23	80018											
BRD8	10902	broad.mit.edu	37	chr5	137488173	137488173	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ataagagctcactgttacctCagagagaaagtggaggaggt	13	6	2	3			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr5:137488173C>T	uc003lcf.1	-	21	2909	c.2854G>A	c.(2854-2856)GAG>AAG	p.E952K	BRD8_uc003lcc.1_Intron	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	952					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACTGTTACCTCAGAGAGAAAG	0.448													T	137488173	C	T	137488173	3	4	142	1	0	0	0	0	1	0	0	0	1506	835	29	4	881	4	BRD8	5	137488173	Missense_Mutation	SNP	C	TCGA-CD-8525-01A-11D-2340-08	92184372	137488173	43427087	24	80019											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308819	140308819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtacaatgctgccgacctgcGaaatcttgccactggggtag	12	11	1	0			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr5:140308819G>A	uc003lih.2	+	1	2518	c.2342G>A	c.(2341-2343)CGA>CAA	p.R781Q	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.R781Q	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	781	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGACCTGCGAAATCTTGCC	0.468													A	140308819	G	A	140308819	3	1	142	1	0	0	0	0	1	0	0	0	11532	1058	37	1	2344	1	PCDHAC1	5	140308819	Missense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08	2820646	140308819	40606441	25	80020											
PCDHB11	56125	broad.mit.edu	37	chr5	140580416	140580416	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcaattaccagtccaatcCcagaaaatacgccagagacc	5	14	1	2			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr5:140580416C>A	uc003liy.2	+	1	1069	c.1069C>A	c.(1069-1071)CCA>ACA	p.P357T	PCDHB11_uc011daj.1_5'UTR	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	357	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGTCCAATCCCAGAAAATAC	0.423													A	140580416	C	A	140580416	3	1	142	1	0	0	0	0	1	0	0	0	11536	623	22	5	1071	5	PCDHB11	5	140580416	Missense_Mutation	SNP	C	TCGA-CD-8525-01A-11D-2340-08	271597	140580416	40334844	26	80021											
PCDHGA11	56105	broad.mit.edu	37	chr5	140803086	140803086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctctctcattgcggactcGcagaagagtcacctgatttt	9	11	3	3			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr5:140803086G>A	uc003lkq.1	+	1	2550	c.2292G>A	c.(2290-2292)TCG>TCA	p.S764S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Silent_p.S764S|PCDHGA11_uc003lkp.1_Intron|PCDHGB8P_uc011daz.1_5'Flank	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	764	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCGGACTCGCAGAAGAGTC	0.552													A	140803086	G	A	140803086	2	1	142	1	0	0	0	0	0	0	0	1	11552	1074	38	1		1	PCDHGA11	5	140803086	Silent	SNP	G	TCGA-CD-8525-01A-11D-2340-08	222670	140803086	40112174	27	80022											
HAVCR2	84868	broad.mit.edu	37	chr5	156514152	156514152	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacccaaaggttgtgagggTtgctgcctgctgctgacata	12	10	0	2			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr5:156514152T>C	uc003lwk.1	-	7	1011	c.867A>G	c.(865-867)CAA>CAG	p.Q289Q		NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	T cell immunoglobulin mucin 3 precursor	289	Cytoplasmic (Potential).					integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTGTGAGGGTTGCTGCCTGC	0.428													C	156514152	T	C	156514152	2	2	142	1	0	0	0	0	0	0	0	1	6974	1722	60	3		3	HAVCR2	5	156514152	Silent	SNP	T	TCGA-CD-8525-01A-11D-2340-08	15711066	156514152	24401108	28	80023											
BTN3A3	10384	broad.mit.edu	37	chr6	26452383	26452383	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcctctatatcctgttttcaGaattttgaccttggagccca	7	11	2	2			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr6:26452383G>T	uc003nhz.2	+	11	1679	c.1499G>T	c.(1498-1500)AGA>ATA	p.R500I	BTN3A3_uc003nia.2_Missense_Mutation_p.R458I|BTN3A3_uc011dkn.1_Missense_Mutation_p.R451I	NM_006994	NP_008925	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3 isoform a	500	B30.2/SPRY.|Cytoplasmic (Potential).					integral to membrane					0						CCTGTTTTCAGAATTTTGACC	0.478													T	26452383	G	T	26452383	3	4	142	1	0	0	0	0	1	0	0	0	1564	942	33	5	1533	5	BTN3A3	6	26452383	Missense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08		26452383	144662684	29	80024											
KCNQ5	56479	broad.mit.edu	37	chr6	73900379	73900379	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agatgtcattgaacaatattCtgctggtcatctggacatgt	9	7	4	2			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr6:73900379C>G	uc003pgk.2	+	12	2008	c.1661C>G	c.(1660-1662)TCT>TGT	p.S554C	KCNQ5_uc011dyh.1_Missense_Mutation_p.S573C|KCNQ5_uc011dyi.1_Missense_Mutation_p.S564C|KCNQ5_uc010kat.2_Missense_Mutation_p.S545C|KCNQ5_uc011dyj.1_Missense_Mutation_p.S444C|KCNQ5_uc011dyk.1_Missense_Mutation_p.S304C	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	554					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GAACAATATTCTGCTGGTCAT	0.343													G	73900379	C	G	73900379	3	3	142	1	0	0	0	0	1	0	0	0	8086	913	32	5	1768	5	KCNQ5	6	73900379	Missense_Mutation	SNP	C	TCGA-CD-8525-01A-11D-2340-08	47447996	73900379	97214688	30	80025											
COL10A1	1300	broad.mit.edu	37	chr6	116442804	116442804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtgggtccctgttgtcCaggttttcctggcacagaaa	11	11	0	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr6:116442804C>T	uc003pwm.2	-	3	571	c.475G>A	c.(475-477)GGA>AGA	p.G159R	NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	type X collagen alpha 1 precursor	159	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)	1		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		CCCTGTTGTCCAGGTTTTCCT	0.597													T	116442804	C	T	116442804	3	4	142	1	0	0	0	0	1	0	0	0	3666	603	21	4	1571	4	COL10A1	6	116442804	Missense_Mutation	SNP	C	TCGA-CD-8525-01A-11D-2340-08	42542425	116442804	54672263	31	80026											
RNF146	81847	broad.mit.edu	37	chr6	127608243	127608243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggagaaatgaacatggacGtcgcaggaagattaagcgag	14	5	0	3			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr6:127608243G>A	uc003qav.2	+	3	644	c.485G>A	c.(484-486)CGT>CAT	p.R162H	RNF146_uc003qat.2_Missense_Mutation_p.R161H|RNF146_uc003qau.2_Missense_Mutation_p.R161H|RNF146_uc003qaw.2_Missense_Mutation_p.R161H	NM_030963	NP_112225	Q9NTX7	RN146_HUMAN	ring finger protein 146	162	WWE.				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GAACATGGACGTCGCAGGAAG	0.388													A	127608243	G	A	127608243	3	1	142	1	0	0	0	0	1	0	0	0	13448	1145	40	1	484	1	RNF146	6	127608243	Missense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08	11165439	127608243	43506824	32	80027											
PTPRK	5796	broad.mit.edu	37	chr6	128388735	128388735	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agccaaaggagggttccaaaAgccttggtaggtccgattgt	13	8	0	0			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr6:128388735A>C	uc003qbk.2	-	12	2453	c.2086T>G	c.(2086-2088)TTT>GTT	p.F696V	PTPRK_uc003qbj.2_Missense_Mutation_p.F696V|PTPRK_uc010kfc.2_Missense_Mutation_p.F696V|PTPRK_uc011ebu.1_Missense_Mutation_p.F696V|PTPRK_uc003qbl.1_Missense_Mutation_p.F566V|PTPRK_uc011ebv.1_Missense_Mutation_p.F696V	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	696	Extracellular (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GGGTTCCAAAAGCCTTGGTAG	0.547													C	128388735	A	C	128388735	3	2	142	1	0	0	0	0	1	0	0	0	12805	72	3	5	2334	5	PTPRK	6	128388735	Missense_Mutation	SNP	A	TCGA-CD-8525-01A-11D-2340-08	780492	128388735	42726332	33	80028											
SUMO4	387082	broad.mit.edu	37	chr6	149721793	149721793	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaattgatgtgtttcaacAgcctacgggaggtgtctact	10	8	2	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr6:149721793A>C	uc003qml.2	+	1	299	c.266A>C	c.(265-267)CAG>CCG	p.Q89P	TAB2_uc011eec.1_Intron|TAB2_uc003qmj.2_Intron|TAB2_uc003qmk.3_Intron	NM_001002255	NP_001002255	Q6EEV6	SUMO4_HUMAN	SMT3 suppressor of mif two 3 homolog 4	89	Ubiquitin-like.										0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;7.91e-12)|GBM - Glioblastoma multiforme(68;0.0282)		GTGTTTCAACAGCCTACGGGA	0.423													C	149721793	A	C	149721793	3	2	142	1	0	0	0	0	1	0	0	0	15387	188	7	5	268	5	SUMO4	6	149721793	Missense_Mutation	SNP	A	TCGA-CD-8525-01A-11D-2340-08	21333058	149721793	21393274	34	80029											
RSPH3	83861	broad.mit.edu	37	chr6	159401861	159401861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggctgccaaaaacagaCgggagaaggtcagccaggta	14	9	1	3	rs148058820	by1000genomes	TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr6:159401861C>T	uc003qrx.2	-	6	1420	c.1230G>A	c.(1228-1230)CCG>CCA	p.P410P	RSPH3_uc010kju.2_Silent_p.P314P	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog	410										ovary(1)|skin(1)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		CAAAAACAGACGGGAGAAGGT	0.423													T	159401861	C	T	159401861	2	4	142	1	0	0	0	0	0	0	0	1	13705	523	19	1		1	RSPH3	6	159401861	Silent	SNP	C	TCGA-CD-8525-01A-11D-2340-08	9680068	159401861	11713206	35	80030											
IQUB	154865	broad.mit.edu	37	chr7	123143002	123143002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaataaaaacattacctgcGtatccctacaaaatatactg	3	10	0	0			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr7:123143002G>A	uc003vkn.2	-	5	1440	c.863C>T	c.(862-864)ACG>ATG	p.T288M	IQUB_uc003vko.2_Missense_Mutation_p.T288M|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Missense_Mutation_p.T288M|IQUB_uc003vkq.2_3'UTR	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	288										ovary(3)|large_intestine(1)	4						CATTACCTGCGTATCCCTACA	0.343													A	123143002	G	A	123143002	3	1	142	1	0	0	0	0	1	0	0	0	7820	1145	40	1	1548	1	IQUB	7	123143002	Missense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08		123143002	35995661	36	80031											
GPR37	2861	broad.mit.edu	37	chr7	124404795	124404795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagggtcccgcaagaaacGctgccccctgctcctccctg	11	17	0	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr7:124404795G>A	uc003vli.2	-	1	887	c.236C>T	c.(235-237)GCG>GTG	p.A79V		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	79	Extracellular (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						CGCAAGAAACGCTGCCCCCTG	0.731													A	124404795	G	A	124404795	3	1	142	1	0	0	0	0	1	0	0	0	6691	1087	38	1	1613	1	GPR37	7	124404795	Missense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08	1261793	124404795	34733868	37	80032											
GRM8	2918	broad.mit.edu	37	chr7	126882910	126882910	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	taatgcctgcacgaatgttaGagactgctccaaagcatagg	10	9	0	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr7:126882910G>C	uc003vlr.2	-	1	660	c.349C>G	c.(349-351)CTA>GTA	p.L117V	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.L117V|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	117	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ACGAATGTTAGAGACTGCTCC	0.488										HNSCC(24;0.065)			C	126882910	G	C	126882910	3	2	142	1	0	0	0	0	1	0	0	0	6803	933	33	5	2467	5	GRM8	7	126882910	Missense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08	2478115	126882910	32255753	38	80033											
PHYHIP	9796	broad.mit.edu	37	chr8	22085733	22085733	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacttgttggaattcttAttctccttcttgttaaggtc	7	7	3	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr8:22085733A>C	uc003xbk.3	-	3	832	c.138T>G	c.(136-138)AAT>AAG	p.N46K	PHYHIP_uc003xbj.3_Missense_Mutation_p.N46K	NM_001099335	NP_001092805	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	46	Fibronectin type-III.										0				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TGGAATTCTTATTCTCCTTCT	0.537													C	22085733	A	C	22085733	3	2	142	1	0	0	0	0	1	0	0	0	11866	446	16	5	870	5	PHYHIP	8	22085733	Missense_Mutation	SNP	A	TCGA-CD-8525-01A-11D-2340-08		22085733	124278289	39	80034											
ANK1	286	broad.mit.edu	37	chr8	41548080	41548080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcacaggcaccaggttcCcagagagttctgcaaacagg	10	12	3	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr8:41548080C>T	uc003xok.2	-	32	3980	c.3896G>A	c.(3895-3897)GGG>GAG	p.G1299E	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.G615E|ANK1_uc003xoi.2_Missense_Mutation_p.G1299E|ANK1_uc003xoj.2_Missense_Mutation_p.G1299E|ANK1_uc003xol.2_Missense_Mutation_p.G1299E|ANK1_uc003xom.2_Missense_Mutation_p.G1340E	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1299					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CACCAGGTTCCCAGAGAGTTC	0.567													T	41548080	C	T	41548080	3	4	142	1	0	0	0	0	1	0	0	0	620	623	22	4	2119	4	ANK1	8	41548080	Missense_Mutation	SNP	C	TCGA-CD-8525-01A-11D-2340-08	19462347	41548080	104815942	40	80035											
RP1	6101	broad.mit.edu	37	chr8	55533671	55533671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcggagacccccaattcGgcggggtcagggtggtggtc	18	10	1	2			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr8:55533671G>A	uc003xsd.1	+	2	293	c.145G>A	c.(145-147)GGC>AGC	p.G49S	RP1_uc011ldy.1_Missense_Mutation_p.G49S	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	49	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCCCCAATTCGGCGGGGTCAG	0.547													A	55533671	G	A	55533671	3	1	142	1	0	0	0	0	1	0	0	0	13532	1116	39	1	147	1	RP1	8	55533671	Missense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08	13985591	55533671	90830351	41	80036											
TMEM64	169200	broad.mit.edu	37	chr8	91643833	91643833	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgttctgcaatgacatcttCcattgtccgcagggtggtac	10	11	2	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr8:91643833C>A	uc003yen.2	-	2	898	c.898G>T	c.(898-900)GAA>TAA	p.E300*	TMEM64_uc003yeo.2_Nonsense_Mutation_p.E39*|TMEM64_uc011lgf.1_Intron	NM_001008495	NP_001008495	Q6YI46	TMM64_HUMAN	transmembrane protein 64 isoform 1	300						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(11;0.0598)			ATGACATCTTCCATTGTCCGC	0.418													A	91643833	C	A	91643833	4	1	142	1	0	0	0	0	0	1	0	0	16190	864	30	5	252	5	TMEM64	8	91643833	Nonsense_Mutation	SNP	C	TCGA-CD-8525-01A-11D-2340-08	36110162	91643833	54720189	42	80037											
MAMDC2	256691	broad.mit.edu	37	chr9	72785529	72785529	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cctacacaggaccaaagggaGatcacactactggggtaggt	12	10	1	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr9:72785529G>C	uc004ahm.2	+	11	2250	c.1633G>C	c.(1633-1635)GAT>CAT	p.D545H	MAMDC2_uc004ahn.2_RNA|uc004aho.1_Intron|uc004ahp.1_RNA	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	MAM domain containing 2 precursor	545	MAM 4.					endoplasmic reticulum|membrane				central_nervous_system(1)|pancreas(1)	2						ACCAAAGGGAGATCACACTAC	0.463													C	72785529	G	C	72785529	3	2	142	1	0	0	0	0	1	0	0	0	9203	942	33	5	1675	5	MAMDC2	9	72785529	Missense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08		72785529	68427902	43	80038											
ITIH2	3698	broad.mit.edu	37	chr10	7745363	7745363	+	Translation_Start_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgatatcctccccagaccatCtgctttggggagcttggcaa	10	12	1	2			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr10:7745363C>G	uc001ijs.2	+	1	128	c.-34C>G	c.(-36--32)ATCTG>ATGTG			NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide						hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3						CCCAGACCATCTGCTTTGGGG	0.418													G	7745363	C	G	7745363	1	3	142	1	0	0	0	0	0	0	0	0	7904	928	32	5		5	ITIH2	10	7745363	Translation_Start_Site	SNP	C	TCGA-CD-8525-01A-11D-2340-08		7745363	127789384	44	80039											
SLC16A9	220963	broad.mit.edu	37	chr10	61432672	61432672	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagagactgcagacaggacCtaaaaaaagaaatgaaacct	8	8	0	4			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr10:61432672C>A	uc010qig.1	-	3	646	c.197_splice	c.e3-1	p.S66_splice		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	solute carrier family 16 (monocarboxylic acid						urate metabolic process	integral to membrane|plasma membrane	symporter activity			skin(2)|ovary(1)	3						CAGACAGGACCTAAAAAAAGA	0.363													A	61432672	C	A	61432672	5	1	142	1	0	0	0	0	0	0	1	0	14415	695	24	5	1349	5	SLC16A9	10	61432672	Splice_Site	SNP	C	TCGA-CD-8525-01A-11D-2340-08	53687309	61432672	74102075	45	80040											
PCGF5	84333	broad.mit.edu	37	chr10	93021088	93021088	+	Frame_Shift_Del	DEL	A	A	-													ctttatttcctttagggtttAatgaagaaattcattcgatg							TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr10:93021087_93021087TA>T	uc001khi.3	+	6	887	c.479_479TA>T	c.(478-480)ttafs	p.L160fs	PCGF5_uc001khh.3_Frame_Shift_Del_p.L160fs|PCGF5_uc010qnk.2_Frame_Shift_Del_p.L160fs	NM_032373	NP_115749	Q86SE9	PCGF5_HUMAN	Homo sapiens polycomb group ring finger 5 (PCGF5), mRNA.	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|centrosome	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						CTTTAGGGTTTAATGAAGAAA	0.308													-	93021088	A	-	93021088	7	5	142	1	0	1	0	1	0	0	0	0	11577	359	13	0	502	0	PCGF5	10	93021088	Frame_Shift_Del	DEL	A	TCGA-CD-8525-01A-11D-2340-08	31588416	93021088	42513659	46	80041											
SCGB1C1	147199	broad.mit.edu	37	chr11	193135	193135	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccctcctgctggtggccctCaccctgttctgcatctgccg	10	18	3	0			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr11:193135C>T	uc001loa.1	+	1	56	c.36C>T	c.(34-36)CTC>CTT	p.L12L		NM_145651	NP_663626	Q8TD33	SG1C1_HUMAN	secretoglobin, family 1C, member 1 precursor	12						extracellular region	binding			skin(1)	1		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGGTGGCCCTCACCCTGTTCT	0.612													T	193135	C	T	193135	2	4	142	1	0	0	0	0	0	0	0	1	13895	813	29	4		4	SCGB1C1	11	193135	Silent	SNP	C	TCGA-CD-8525-01A-11D-2340-08		193135	134813381	47	80042											
MUC6	4588	broad.mit.edu	37	chr11	1016412	1016414	+	In_Frame_Del	DEL	GAG	GAG	-													cagaaggactgggagaaaatGaggaggacagctgattagtt							TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr11:1016411_1016413TGAG>T	uc001lsw.2	-	30	6439_6441	c.6388_6390CTCA>A	c.(6388-6390)tca>A	p.S2130del		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	2130	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.S2130delS(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGGAGAAAATGAGGAGGACAGC	0.522													-	1016414	GAG	-	1016412	7	5	142	1	0	1	0	1	0	0	0	0	9980	1294	45	0	942	0	MUC6	11	1016412	In_Frame_Del	DEL	GAG	TCGA-CD-8525-01A-11D-2340-08	823277	1016412	133990104	48	80043											
OR2AG1	144125	broad.mit.edu	37	chr11	6806527	6806527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcccttgcggactttctgCgcagagaaaacaccatctcc	9	14	2	1	rs147955834	byFrequency	TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr11:6806527C>T	uc001mer.1	+	1	259	c.259C>T	c.(259-261)CGC>TGC	p.R87C		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG,	87	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGACTTTCTGCGCAGAGAAAA	0.567													T	6806527	C	T	6806527	3	4	142	1	0	0	0	0	1	0	0	0	10984	768	27	1	261	1	OR2AG1	11	6806527	Missense_Mutation	SNP	C	TCGA-CD-8525-01A-11D-2340-08	5790115	6806527	128199989	49	80044											
SPTY2D1	144108	broad.mit.edu	37	chr11	18637507	18637507	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgttgcctgcctcttctttGacttttcctcaataggaatc	6	12	3	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr11:18637507G>C	uc001moy.2	-	3	530	c.314C>G	c.(313-315)TCA>TGA	p.S105*	SPTY2D1_uc010rdi.1_Nonsense_Mutation_p.S105*	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	105										breast(1)	1						CCTCTTCTTTGACTTTTCCTC	0.438													C	18637507	G	C	18637507	4	2	142	1	0	0	0	0	0	1	0	0	15125	1294	45	5	1759	5	SPTY2D1	11	18637507	Nonsense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08	11830980	18637507	116369009	50	80045											
NUP160	23279	broad.mit.edu	37	chr11	47819349	47819349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acccttgcggtaattgtggcGatagatgtgaaaggcataca	12	7	0	2			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr11:47819349G>A	uc001ngm.2	-	27	3356	c.3271C>T	c.(3271-3273)CGC>TGC	p.R1091C	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	1091					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						TAATTGTGGCGATAGATGTGA	0.413													A	47819349	G	A	47819349	3	1	142	1	0	0	0	0	1	0	0	0	10757	1058	37	1	1079	1	NUP160	11	47819349	Missense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08	29181842	47819349	87187167	51	80046											
MMP20	9313	broad.mit.edu	37	chr11	102482570	102482570	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacggcgctactccaggcctGcaaggccatctccactgctt	10	16	1	0			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr11:102482570G>T	uc001phc.2	-	3	452	c.439C>A	c.(439-441)CAG>AAG	p.Q147K		NM_004771	NP_004762	O60882	MMP20_HUMAN	matrix metalloproteinase 20 preproprotein	147					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			urinary_tract(1)|skin(1)	2	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CTCCAGGCCTGCAAGGCCATC	0.438													T	102482570	G	T	102482570	3	4	142	1	0	0	0	0	1	0	0	0	9659	1328	46	5	1044	5	MMP20	11	102482570	Missense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08	54663221	102482570	32523946	52	80047											
SIK3	23387	broad.mit.edu	37	chr11	116719989	116719989	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctatccatgcagttcccTatgacaggctctgaggagac	9	12	2	3			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr11:116719989T>G	uc001ppy.2	-	21	3384	c.3348A>C	c.(3346-3348)ATA>ATC	p.I1116I	SIK3_uc001ppz.2_Silent_p.I955I|SIK3_uc001pqa.2_Silent_p.I1056I|SIK3_uc001ppw.2_Silent_p.I473I|SIK3_uc001ppx.2_Silent_p.I494I	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	1116						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						TGCAGTTCCCTATGACAGGCT	0.552													G	116719989	T	G	116719989	2	3	142	1	0	0	0	0	0	0	0	1	14319	1512	53	5		5	SIK3	11	116719989	Silent	SNP	T	TCGA-CD-8525-01A-11D-2340-08	14237419	116719989	18286527	53	80048											
CDON	50937	broad.mit.edu	37	chr11	125891151	125891151	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aattaaactcacctgccacaGatactgtcgcagggccactc	7	14	1	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr11:125891151G>A	uc009zbw.2	-	3	469	c.341C>T	c.(340-342)TCT>TTT	p.S114F	CDON_uc001qdc.3_Missense_Mutation_p.S114F|CDON_uc001qdd.3_RNA|CDON_uc009zbx.2_Missense_Mutation_p.S114F	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	114	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ACCTGCCACAGATACTGTCGC	0.383													A	125891151	G	A	125891151	3	1	142	1	0	0	0	0	1	0	0	0	3170	942	33	4	3525	4	CDON	11	125891151	Missense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08	9171162	125891151	9115365	54	80049											
OS9	10956	broad.mit.edu	37	chr12	58114598	58114598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaggcccagaaggaacGccagcggcagaaagagctgg	16	9	0	5			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr12:58114598G>A	uc001spj.2	+	15	1969	c.1910G>A	c.(1909-1911)CGC>CAC	p.R637H	OS9_uc010srx.1_Missense_Mutation_p.R376H|OS9_uc001spk.2_Missense_Mutation_p.R622H|OS9_uc001spl.2_Missense_Mutation_p.R582H|OS9_uc001spm.2_Missense_Mutation_p.R567H|OS9_uc001spn.2_Missense_Mutation_p.R583H|OS9_uc010sry.1_Missense_Mutation_p.R550H|OS9_uc010srz.1_Missense_Mutation_p.R508H	NM_006812	NP_006803	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum	637					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			ovary(1)	1	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CAGAAGGAACGCCAGCGGCAG	0.637													A	58114598	G	A	58114598	3	1	142	1	0	0	0	0	1	0	0	0	11272	1087	38	1	1968	1	OS9	12	58114598	Missense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08		58114598	75737297	55	80050											
FAM71C	196472	broad.mit.edu	37	chr12	100042226	100042226	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatgctgctggcccgaccaGctgctgtctgtgacaatgcc	11	14	2	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr12:100042226G>T	uc001tgn.2	+	1	696	c.274G>T	c.(274-276)GCT>TCT	p.A92S	ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN	hypothetical protein LOC196472	92											0				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		GGCCCGACCAGCTGCTGTCTG	0.552													T	100042226	G	T	100042226	3	4	142	1	0	0	0	0	1	0	0	0	5609	971	34	5	276	5	FAM71C	12	100042226	Missense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08	41927628	100042226	33809669	56	80051											
MED13L	23389	broad.mit.edu	37	chr12	116424993	116424993	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctggatgttctcccaggtCctgcccgtgcgcttcttttg	11	13	2	0			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr12:116424993C>T	uc001tvw.2	-	18	4090	c.4035G>A	c.(4033-4035)AGG>AGA	p.R1345R		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1345					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCTCCCAGGTCCTGCCCGTGC	0.547													T	116424993	C	T	116424993	2	4	142	1	0	0	0	0	0	0	0	1	9431	854	30	4		4	MED13L	12	116424993	Silent	SNP	C	TCGA-CD-8525-01A-11D-2340-08	16382767	116424993	17426902	57	80052											
SOHLH2	54937	broad.mit.edu	37	chr13	36764191	36764191	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgccattccttaaagattcaGagctagaaacaagagaaaat	7	7	1	4			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr13:36764191G>C	uc001uvj.2	-	6	622	c.533C>G	c.(532-534)TCT>TGT	p.S178C	SOHLH2_uc010tei.1_Missense_Mutation_p.S255C	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	178					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TAAAGATTCAGAGCTAGAAAC	0.353													C	36764191	G	C	36764191	3	2	142	1	0	0	0	0	1	0	0	0	14924	942	33	5	768	5	SOHLH2	13	36764191	Missense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08		36764191	78405687	58	80053											
FAM48A	55578	broad.mit.edu	37	chr13	37598543	37598543	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcgatgttttacacccttccCcaataccgaagactgaactg	6	13	0	2			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr13:37598543C>G	uc001uwg.2	-	18	1614	c.1366G>C	c.(1366-1368)GGG>CGG	p.G456R	FAM48A_uc010abt.2_Missense_Mutation_p.G457R|FAM48A_uc001uwh.2_Missense_Mutation_p.G457R|FAM48A_uc001uwi.2_Missense_Mutation_p.G456R|FAM48A_uc001uwj.2_Missense_Mutation_p.G457R|FAM48A_uc001uwk.2_Missense_Mutation_p.G456R|FAM48A_uc010tes.1_Missense_Mutation_p.G420R|FAM48A_uc001uwl.1_Missense_Mutation_p.G456R|FAM48A_uc001uwd.2_5'Flank|FAM48A_uc001uwe.2_5'UTR|FAM48A_uc001uwf.2_Missense_Mutation_p.G34R	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	456					autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		ACACCCTTCCCCAATACCGAA	0.378													G	37598543	C	G	37598543	3	3	142	1	0	0	0	0	1	0	0	0	5572	623	22	5	1009	5	FAM48A	13	37598543	Missense_Mutation	SNP	C	TCGA-CD-8525-01A-11D-2340-08	834352	37598543	77571335	59	80054											
CPB2	1361	broad.mit.edu	37	chr13	46656606	46656606	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgatactgttcatagtaCgatgcggaggctcgggggct	16	7	1	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr13:46656606C>T	uc001vaw.2	-	4	421	c.354G>A	c.(352-354)TCG>TCA	p.S118S	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Silent_p.S118S	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a	118					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GTTCATAGTACGATGCGGAGG	0.438													T	46656606	C	T	46656606	2	4	142	1	0	0	0	0	0	0	0	1	3797	523	19	1		1	CPB2	13	46656606	Silent	SNP	C	TCGA-CD-8525-01A-11D-2340-08	9058063	46656606	68513272	60	80055											
TTLL5	23093	broad.mit.edu	37	chr14	76368562	76368562	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctttgtgcccatcaccagctCtacaggttagtgggcaccag	10	13	2	0			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr14:76368562C>G	uc001xrx.2	+	31	4023	c.3818C>G	c.(3817-3819)TCT>TGT	p.S1273C	TTLL5_uc001xsa.2_Missense_Mutation_p.S347C	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1273					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		ATCACCAGCTCTACAGGTTAG	0.557													G	76368562	C	G	76368562	3	3	142	1	0	0	0	0	1	0	0	0	16727	913	32	5	3936	5	TTLL5	14	76368562	Missense_Mutation	SNP	C	TCGA-CD-8525-01A-11D-2340-08		76368562	30980978	61	80056											
SNW1	22938	broad.mit.edu	37	chr14	78217691	78217691	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactgtccttgtcgagcaaTtgcatcatatttaatttttc	6	8	1	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr14:78217691T>C	uc001xuf.2	-	3	328	c.301A>G	c.(301-303)ATT>GTT	p.I101V	SNW1_uc010tvm.1_Missense_Mutation_p.I26V|SNW1_uc010asu.2_Intron|SNW1_uc010tvn.1_Missense_Mutation_p.I101V	NM_012245	NP_036377	Q13573	SNW1_HUMAN	SKI-interacting protein	101					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TGTCGAGCAATTGCATCATAT	0.378													C	78217691	T	C	78217691	3	2	142	1	0	0	0	0	1	0	0	0	14879	1493	52	3	1357	3	SNW1	14	78217691	Missense_Mutation	SNP	T	TCGA-CD-8525-01A-11D-2340-08	1849129	78217691	29131849	62	80057											
C14orf177	283598	broad.mit.edu	37	chr14	99182681	99182681	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcacctgcagagcctaagAcataacaagcagcatgccct	8	14	0	2			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr14:99182681A>G	uc001yfz.1	+	3	572	c.153A>G	c.(151-153)AGA>AGG	p.R51R		NM_182560	NP_872366	Q52M58	CN177_HUMAN	hypothetical protein LOC283598	51											0		Melanoma(154;0.128)				AGAGCCTAAGACATAACAAGC	0.488													G	99182681	A	G	99182681	2	3	142	1	0	0	0	0	0	0	0	1	1760	272	10	3		3	C14orf177	14	99182681	Silent	SNP	A	TCGA-CD-8525-01A-11D-2340-08	20964990	99182681	8166859	63	80058											
OTUD7A	161725	broad.mit.edu	37	chr15	31776753	31776753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggccacggagtcggcgcGcgtcttgtccttctccttgc	13	14	2	0			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr15:31776753G>A	uc001zfq.2	-	11	1618	c.1525C>T	c.(1525-1527)CGC>TGC	p.R509C	OTUD7A_uc001zfr.2_Missense_Mutation_p.R516C	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	509	Nuclear localization signal (Potential).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GAGTCGGCGCGCGTcttgtcc	0.483													A	31776753	G	A	31776753	3	1	142	1	0	0	0	0	1	0	0	0	11318	1087	38	1	1259	1	OTUD7A	15	31776753	Missense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08		31776753	70754639	64	80059											
VPS18	57617	broad.mit.edu	37	chr15	41192978	41192978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatggagttctgcgtgaaCgtgctgggggagactgagca	16	7	1	3			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr15:41192978C>T	uc001zne.2	+	4	2301	c.1962C>T	c.(1960-1962)AAC>AAT	p.N654N		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	654	Clathrin.				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TCTGCGTGAACGTGCTGGGGG	0.617													T	41192978	C	T	41192978	2	4	142	1	0	0	0	0	0	0	0	1	17191	535	19	1		1	VPS18	15	41192978	Silent	SNP	C	TCGA-CD-8525-01A-11D-2340-08	9416225	41192978	61338414	65	80060											
ASB7	140460	broad.mit.edu	37	chr15	101170193	101170193	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaccccattggctgtttcaAtaagtatttctggaagtagt	9	7	2	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr15:101170193A>G	uc002bwk.2	+	5	1532	c.763A>G	c.(763-765)ATA>GTA	p.I255V	ASB7_uc002bwj.2_Missense_Mutation_p.I255V	NM_198243	NP_937886	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box-containing protein 7	255					intracellular signal transduction					skin(1)	1	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			GGCTGTTTCAATAAGTATTTC	0.368													G	101170193	A	G	101170193	3	3	142	1	0	0	0	0	1	0	0	0	1028	101	4	3	769	3	ASB7	15	101170193	Missense_Mutation	SNP	A	TCGA-CD-8525-01A-11D-2340-08	59977215	101170193	1361199	66	80061											
KIAA0430	9665	broad.mit.edu	37	chr16	15732982	15732982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggcagcgtctgctcaggacGagaaaagcaattagagaatt	12	7	2	2			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr16:15732982G>A	uc002ddr.2	-	2	302	c.109C>T	c.(109-111)CGT>TGT	p.R37C	KIAA0430_uc002ddq.2_Missense_Mutation_p.R36C|KIAA0430_uc010uzv.1_Missense_Mutation_p.R36C|KIAA0430_uc010uzw.1_Missense_Mutation_p.R36C|KIAA0430_uc010uzx.1_Missense_Mutation_p.R36C	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	36						peroxisome	nucleotide binding|RNA binding				0						TGCTCAGGACGAGAAAAGCAA	0.443													A	15732982	G	A	15732982	3	1	142	1	0	0	0	0	1	0	0	0	8177	1058	37	1	5226	1	KIAA0430	16	15732982	Missense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08		15732982	74621771	67	80062											
RABEP2	79874	broad.mit.edu	37	chr16	28926046	28926046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcttcgccttcagctcctCgatctccttttccatgggca	7	16	2	0			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr16:28926046C>T	uc002drq.2	-	4	538	c.490G>A	c.(490-492)GAG>AAG	p.E164K	uc010vct.1_Intron|RABEP2_uc010vdf.1_Missense_Mutation_p.E93K|RABEP2_uc010byn.2_Missense_Mutation_p.E164K|RABEP2_uc002drr.2_Missense_Mutation_p.E164K	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	164	Potential.				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			ovary(1)|breast(1)|skin(1)	3						TTCAGCTCCTCGATCTCCTTT	0.642													T	28926046	C	T	28926046	3	4	142	1	0	0	0	0	1	0	0	0	12962	893	31	1	1259	1	RABEP2	16	28926046	Missense_Mutation	SNP	C	TCGA-CD-8525-01A-11D-2340-08	13193064	28926046	61428707	68	80063											
OSGIN1	29948	broad.mit.edu	37	chr16	83998836	83998836	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaggactccagccccctcTtccaggtgagcggcttcctg	10	18	1	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr16:83998836T>G	uc002fha.2	+	7	1290	c.907T>G	c.(907-909)TTC>GTC	p.F303V	OSGIN1_uc002fhb.2_Missense_Mutation_p.F220V|OSGIN1_uc002fhc.2_Missense_Mutation_p.F220V	NM_013370	NP_037502	Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	303					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity				0						CAGCCCCCTCTTCCAGGTGAG	0.677													G	83998836	T	G	83998836	3	3	142	1	0	0	0	0	1	0	0	0	11289	1609	56	5	933	5	OSGIN1	16	83998836	Missense_Mutation	SNP	T	TCGA-CD-8525-01A-11D-2340-08	55072790	83998836	6355917	69	80064											
FOXF1	2294	broad.mit.edu	37	chr16	86544645	86544645	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcaagcccatgtacagcaTgatgaacgggctcggcttca	11	12	2	2			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr16:86544645T>C	uc002fjl.2	+	1	513	c.470T>C	c.(469-471)ATG>ACG	p.M157T	uc002fjk.1_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	157					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0						ATGTACAGCATGATGAACGGG	0.682													C	86544645	T	C	86544645	3	2	142	1	0	0	0	0	1	0	0	0	6005	1464	51	3	472	3	FOXF1	16	86544645	Missense_Mutation	SNP	T	TCGA-CD-8525-01A-11D-2340-08	2545809	86544645	3810108	70	80065											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	9	15	2	1	rs121912666		TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr17:7578190T>C	uc002gim.2	-	6	853	c.659A>G	c.(658-660)TAT>TGT	p.Y220C	TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.2_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.1_Missense_Mutation_p.Y181C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	220	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(205)|p.Y220N(12)|p.Y220H(9)|p.Y220S(9)|p.0?(7)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(2)|p.Y127C(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.?(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGCGGCTCATAGGGCACCAC	0.557		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C	7578190	T	C	7578190	3	2	142	1	0	0	0	0	1	0	0	0	16378	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-CD-8525-01A-11D-2340-08		7578190	73617020	71	80066											
KRT28	162605	broad.mit.edu	37	chr17	38954574	38954574	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgcagagcgtcagctcGtccaggactcgccgtaatcc	11	15	1	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr17:38954574G>A	uc002hvh.1	-	3	669	c.603C>T	c.(601-603)GAC>GAT	p.D201D		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	201	Rod.|Coil 1B.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				GCGTCAGCTCGTCCAGGACTC	0.502													A	38954574	G	A	38954574	2	1	142	1	0	0	0	0	0	0	0	1	8465	1136	40	1		1	KRT28	17	38954574	Silent	SNP	G	TCGA-CD-8525-01A-11D-2340-08	31376384	38954574	42240636	72	80067											
TTC25	83538	broad.mit.edu	37	chr17	40094927	40094927	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcagaagccgatctacgccaGggagcgggaccggaagctga	16	11	1	2			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr17:40094927G>C	uc002hyj.3	+	6	832	c.743G>C	c.(742-744)AGG>ACG	p.R248T	TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Intron	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25	248						cytoplasm	protein binding			ovary(1)	1		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				ATCTACGCCAGGGAGCGGGAC	0.572													C	40094927	G	C	40094927	3	2	142	1	0	0	0	0	1	0	0	0	16690	1000	35	5	765	5	TTC25	17	40094927	Missense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08	1140353	40094927	41100283	73	80068											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	142	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-CD-8525-01A-11D-2340-08	16291457	56386384	24808826	74	80069											
C17orf55	284185	broad.mit.edu	37	chr17	79279118	79279119	+	Frame_Shift_Ins	INS	-	-	G													gtgggaaacagcaggaggccINSgggggagcagtgaacggagc							TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr17:79279118_79279119insG	uc002kac.1	-	4	475_476	c.46_47insC	c.(46-48)CGGfs	p.R16fs		NM_178519	NP_848614			hypothetical protein LOC284185												0	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGCAGGAGGCCGGGGGAGCAGT	0.624													G	79279119	-	G	79279118	7	5	142	1	0	1	1	0	0	0	0	0	1863	652	23	0	751	0	C17orf55	17	79279118	Frame_Shift_Ins	INS	-	TCGA-CD-8525-01A-11D-2340-08	22892734	79279118	1916092	75	80070											
CNDP2	55748	broad.mit.edu	37	chr18	72173101	72173101	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagctccctgatggctcggaGatcccgctccctcctattct	8	17	1	2			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr18:72173101G>C	uc002llm.1	+	4	384	c.222G>C	c.(220-222)GAG>GAC	p.E74D	CNDP2_uc002lln.1_Intron|CNDP2_uc002llo.2_Missense_Mutation_p.E74D|CNDP2_uc002llp.1_5'Flank	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2	74						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			ovary(2)|skin(1)	3		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		ATGGCTCGGAGATCCCGCTCC	0.542													C	72173101	G	C	72173101	3	2	142	1	0	0	0	0	1	0	0	0	3594	933	33	5	232	5	CNDP2	18	72173101	Missense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08		72173101	5904147	76	80071											
LONP1	9361	broad.mit.edu	37	chr19	5694792	5694792	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctccacttgcttctgcaGgttgcggacaccgctctcgc	9	16	3	0			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr19:5694792G>A	uc002mcx.2	-	14	2167	c.2134C>T	c.(2134-2136)CTG>TTG	p.L712L	LONP1_uc002mcy.2_Silent_p.L648L|LONP1_uc010duh.2_Silent_p.L453L|LONP1_uc010dui.2_Silent_p.L696L|LONP1_uc002mcz.2_Silent_p.L516L	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	712					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						TGCTTCTGCAGGTTGCGGACA	0.637													A	5694792	G	A	5694792	2	1	142	1	0	0	0	0	0	0	0	1	8892	991	35	4		4	LONP1	19	5694792	Silent	SNP	G	TCGA-CD-8525-01A-11D-2340-08		5694792	53434191	77	80072											
CRTC1	23373	broad.mit.edu	37	chr19	18871039	18871039	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcggtggcgccggccaggGtaaggcagggacactccgcc	16	14	0	0			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr19:18871039G>A	uc002nkb.3	+	8	974	c.886_splice	c.e8+1	p.G296_splice	CRTC1_uc010ebv.2_Splice_Site_p.G312_splice|CRTC1_uc010ebw.2_Splice_Site_p.G161_splice|CRTC1_uc002nkc.3_Splice_Site_p.G161_splice	NM_015321	NP_056136	Q6UUV9	CRTC1_HUMAN	mucoepidermoid carcinoma translocated 1 isoform						interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519						GCCGGCCAGGGTAAGGCAGGG	0.652													A	18871039	G	A	18871039	5	1	142	1	0	0	0	0	0	0	1	0	3899	1275	44	4	969	4	CRTC1	19	18871039	Splice_Site	SNP	G	TCGA-CD-8525-01A-11D-2340-08	13176247	18871039	40257944	78	80073											
NDUFA13	51079	broad.mit.edu	37	chr19	19645850	19645850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctaccaccaggcgttccCgttgcccgctctctcccgga	8	21	1	0			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr19:19645850C>T	uc010xqy.1	+	5	831	c.572C>T	c.(571-573)CCG>CTG	p.P191L	NDUFA13_uc010xqx.1_3'UTR|YJEFN3_uc002nmt.1_Missense_Mutation_p.P109L|YJEFN3_uc010ecf.1_Missense_Mutation_p.P59L|YJEFN3_uc002nmu.1_RNA	NM_015965	NP_057049	Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	Error:Variant_position_missing_in_Q9P0J0_after_alignment					apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm	ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding				0					NADH(DB00157)	CAGGCGTTCCCGTTGCCCGCT	0.498													T	19645850	C	T	19645850	3	4	142	1	0	0	0	0	1	0	0	0	10263	652	23	1		1	NDUFA13	19	19645850	Missense_Mutation	SNP	C	TCGA-CD-8525-01A-11D-2340-08	774811	19645850	39483133	79	80074											
ZNF226	7769	broad.mit.edu	37	chr19	44680182	44680182	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcgtaccagtgtaatgAgtgtaaaaaacccttcagtg	9	7	1	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr19:44680182A>G	uc002oyp.2	+	6	911	c.767A>G	c.(766-768)GAG>GGG	p.E256G	ZNF226_uc002oyq.2_Missense_Mutation_p.E139G|ZNF226_uc002oyr.2_Missense_Mutation_p.E139G|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.E256G|ZNF226_uc002oyt.2_Missense_Mutation_p.E256G	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN	zinc finger protein 226 isoform a	256	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				CAGTGTAATGAGTGTAAAAAA	0.383													G	44680182	A	G	44680182	3	3	142	1	0	0	0	0	1	0	0	0	17777	304	11	3	835	3	ZNF226	19	44680182	Missense_Mutation	SNP	A	TCGA-CD-8525-01A-11D-2340-08	25034332	44680182	14448801	80	80075											
TPRX1	284355	broad.mit.edu	37	chr19	48305321	48305321	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgggattggagctgggactGagcctgagcctgggcctgag	18	9	0	3			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr19:48305321G>A	uc002php.1	-	2	1018	c.947C>T	c.(946-948)TCA>TTA	p.S316L		NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox	316	Gly-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		agctgggactgagcctgagcc	0.368													A	48305321	G	A	48305321	3	1	142	1	0	0	0	0	1	0	0	0	16419	1294	45	4	292	4	TPRX1	19	48305321	Missense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08	3625139	48305321	10823662	81	80076											
LILRA3	11026	broad.mit.edu	37	chr19	54802685	54802685	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtacagaacaaatctgtcGtagccggcatcagagccaca	9	11	2	2			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr19:54802685G>A	uc002qfd.2	-	5	821	c.756C>T	c.(754-756)TAC>TAT	p.Y252Y	LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Silent_p.Y188Y	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor,	252	Ig-like C2-type 3.				defense response	extracellular region|plasma membrane	antigen binding|receptor activity			ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAAATCTGTCGTAGCCGGCAT	0.627													A	54802685	G	A	54802685	2	1	142	1	0	0	0	0	0	0	0	1	8786	1140	40	1		1	LILRA3	19	54802685	Silent	SNP	G	TCGA-CD-8525-01A-11D-2340-08	6497364	54802685	4326298	82	80077											
YDJC	150223	broad.mit.edu	37	chr22	21984216	21984216	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gctggtcacagccccggccaGaaaggcctccacgataccct	10	17	1	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr22:21984216G>C	uc002zvb.2	-	1	125	c.88C>G	c.(88-90)CTG>GTG	p.L30V	YDJC_uc002zvc.2_RNA|YDJC_uc002zvd.2_Missense_Mutation_p.L30V|CCDC116_uc011aih.1_5'Flank|CCDC116_uc002zve.2_5'Flank	NM_001017964	NP_001017964	A8MPS7	YDJC_HUMAN	YdjC homolog	30					carbohydrate metabolic process		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds				0	Colorectal(54;0.105)					GCCCCGGCCAGAAAGGCCTCC	0.706													C	21984216	G	C	21984216	3	2	142	1	0	0	0	0	1	0	0	0	17468	933	33	5	903	5	YDJC	22	21984216	Missense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08		21984216	29320350	83	80078											
MKL1	57591	broad.mit.edu	37	chr22	40859227	40859227	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agagagagaggcacttacgcGgcatgatcccttggctcacc	12	12	1	3			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chr22:40859227G>C	uc003ayv.1	-	1	212	c.5C>G	c.(4-6)CCG>CGG	p.P2R	MKL1_uc003ayw.1_Missense_Mutation_p.P2R|MKL1_uc010gye.1_Missense_Mutation_p.P2R|MKL1_uc010gyf.1_Missense_Mutation_p.P2R|MKL1_uc003ayy.1_RNA	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	2	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GCACTTACGCGGCATGATCCC	0.527			T	RBM15	acute megakaryocytic leukemia								C	40859227	G	C	40859227	3	2	142	1	0	0	0	0	1	0	0	0	9601	1116	39	5	2838	5	MKL1	22	40859227	Missense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08	18875011	40859227	10445339	84	80079											
AWAT1	158833	broad.mit.edu	37	chrX	69454559	69454559	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaatcatggctcattccaAgcagcctagtcacttccaga	8	12	3	2			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chrX:69454559A>G	uc004dxy.2	+	1	55	c.14A>G	c.(13-15)AAG>AGG	p.K5R		NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN	wax synthase 1	5					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			ovary(3)	3						GCTCATTCCAAGCAGCCTAGT	0.502													G	69454559	A	G	69454559	3	3	142	1	0	0	0	0	1	0	0	0	1234	72	3	3	16	3	AWAT1	23	69454559	Missense_Mutation	SNP	A	TCGA-CD-8525-01A-11D-2340-08		69454559	85816001	85	80080											
PCDH19	57526	broad.mit.edu	37	chrX	99662948	99662948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacggtgcccaggcgcggCgggtcgccaccgtctagcgc	15	17	1	0			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chrX:99662948C>T	uc010nmz.2	-	1	2324	c.648G>A	c.(646-648)CCG>CCA	p.P216P	PCDH19_uc004efw.3_Silent_p.P216P|PCDH19_uc004efx.3_Silent_p.P216P	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	216	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						CCAGGCGCGGCGGGTCGCCAC	0.612													T	99662948	C	T	99662948	2	4	142	1	0	0	0	0	0	0	0	1	11514	755	27	1		1	PCDH19	23	99662948	Silent	SNP	C	TCGA-CD-8525-01A-11D-2340-08	30208389	99662948	55607612	86	80081											
DRP2	1821	broad.mit.edu	37	chrX	100490873	100490873	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagctgctgtcaccagccctGcacctcctcaagatggtgct	10	15	2	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chrX:100490873G>T	uc004egz.2	+	4	511	c.142G>T	c.(142-144)GCA>TCA	p.A48S	DRP2_uc011mrh.1_5'UTR	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	48					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						CACCAGCCCTGCACCTCCTCA	0.557													T	100490873	G	T	100490873	3	4	142	1	0	0	0	0	1	0	0	0	4764	1319	46	5	148	5	DRP2	23	100490873	Missense_Mutation	SNP	G	TCGA-CD-8525-01A-11D-2340-08	827925	100490873	54779687	87	80082											
SLC6A14	11254	broad.mit.edu	37	chrX	115574828	115574828	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtaactcactgtaatgtgAgtacagtgaataaaggaata	9	4	1	2			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chrX:115574828A>G	uc004eqi.2	+	5	630	c.526A>G	c.(526-528)AGT>GGT	p.S176G	SLC6A14_uc011mtm.1_RNA	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid	176	Extracellular (Potential).				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)|pancreas(1)	3					L-Proline(DB00172)	CTGTAATGTGAGTACAGTGAA	0.323													G	115574828	A	G	115574828	3	3	142	1	0	0	0	0	1	0	0	0	14677	304	11	3	544	3	SLC6A14	23	115574828	Missense_Mutation	SNP	A	TCGA-CD-8525-01A-11D-2340-08	15083955	115574828	39695732	88	80083											
ODZ1	10178	broad.mit.edu	37	chrX	123554435	123554435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgaagttataaacatagtCccttgttatcaagttcaggg	10	6	2	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chrX:123554435C>T	uc004euj.2	-	24	4751	c.4687G>A	c.(4687-4689)GAC>AAC	p.D1563N	ODZ1_uc011muj.1_Missense_Mutation_p.D1569N|ODZ1_uc010nqy.2_Missense_Mutation_p.D1570N	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1563	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TAAACATAGTCCCTTGTTATC	0.458													T	123554435	C	T	123554435	3	4	142	1	0	0	0	0	1	0	0	0	10834	855	30	4	3522	4	ODZ1	23	123554435	Missense_Mutation	SNP	C	TCGA-CD-8525-01A-11D-2340-08	7979607	123554435	31716125	89	80084											
DDX26B	203522	broad.mit.edu	37	chrX	134715497	134715497	+	Frame_Shift_Del	DEL	A	A	-													gtaccttgagaaggtactagAaaaaataaattcccaccacc							TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chrX:134715496_134715496GA>G	uc004eyw.4	+	16	2884	c.2521_2521GA>G	c.(2521-2523)gaafs	p.E841fs	DDX26B_uc004eyx.4_Frame_Shift_Del_p.E442fs	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	841										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGGTACTAGAAAAAATAAA	0.333													-	134715497	A	-	134715497	7	5	142	1	0	1	0	1	0	0	0	0	4353	246	9	0	2588	0	DDX26B	23	134715497	Frame_Shift_Del	DEL	A	TCGA-CD-8525-01A-11D-2340-08	11161062	134715497	20555063	90	80085											
ATP11C	286410	broad.mit.edu	37	chrX	138845548	138845548	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcgacagagttattgggctGccttttaaattcttcaccat	7	9	2	1			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chrX:138845548G>T	uc004faz.2	-	21	2529	c.2430C>A	c.(2428-2430)GGC>GGA	p.G810G	ATP11C_uc004fax.2_Silent_p.G18G|ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Silent_p.G810G	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	810	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					TTATTGGGCTGCCTTTTAAAT	0.378													T	138845548	G	T	138845548	2	4	142	1	0	0	0	0	0	0	0	1	1121	1306	46	5		5	ATP11C	23	138845548	Silent	SNP	G	TCGA-CD-8525-01A-11D-2340-08	4130051	138845548	16425012	91	80086											
GPR50	9248	broad.mit.edu	37	chrX	150349598	150349598	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagctaccagccatgctgagCccaccactgctgactatccc	7	18	0	2			TCGA-CD-8525-01A-11D-2340-08	TCGA-CD-8525-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e	2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2	g.chrX:150349598C>A	uc010ntg.1	+	2	1678	c.1543C>A	c.(1543-1545)CCC>ACC	p.P515T		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	515	Cytoplasmic (Potential).|Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CCATGCTGAGCCCACCACTGC	0.612													A	150349598	C	A	150349598	3	1	142	1	0	0	0	0	1	0	0	0	6697	739	26	5	1549	5	GPR50	23	150349598	Missense_Mutation	SNP	C	TCGA-CD-8525-01A-11D-2340-08	11504050	150349598	4920962	92	80087											
PRKAA2	5563	broad.mit.edu	37	chr1	57140083	57140083	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atcaattaacaggccataaaGtggcagttaaaatcttaaat	6	6	2	0			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr1:57140083G>C	uc001cyk.3	+	2	195	c.124G>C	c.(124-126)GTG>CTG	p.V42L		NM_006252	NP_006243	P54646	AAPK2_HUMAN	AMP-activated protein kinase alpha 2 catalytic	42	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(4)|ovary(1)|stomach(1)	6						AGGCCATAAAGTGGCAGTTAA	0.303													C	57140083	G	C	57140083	3	2	143	1	0	0	0	0	1	0	0	0	12494	1029	36	5	130	5	PRKAA2	1	57140083	Missense_Mutation	SNP	G	TCGA-CD-8526-01A-11D-2340-08		57140083	192110538	1	80088											
JUN	3725	broad.mit.edu	37	chr1	59247812	59247813	+	Frame_Shift_Del	DEL	TC	TC	-													gttaacgtggttcatgacttTctgtttaagctgtgccacct							TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr1:59247811_59247812TTC>T	uc001cze.3	-	0	1974_1975	c.931_932GAA>A	c.(931-933)aaafs	p.K311fs		NM_002228	NP_002219	P05412	JUN_HUMAN	Homo sapiens jun proto-oncogene (JUN), mRNA.	311					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|SMAD protein import into nucleus|SMAD protein signal transduction|Toll signaling pathway|innate immune response|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	GTTCATGACTTTCTGTTTAAGC	0.53			A		sarcoma						OREG0013518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	59247813	TC	-	59247812	7	5	143	1	0	1	0	1	0	0	0	0	7969	1792	62	0	68	0	JUN	1	59247812	Frame_Shift_Del	DEL	TC	TCGA-CD-8526-01A-11D-2340-08	2107729	59247812	190002809	2	80089											
AMY2B	280	broad.mit.edu	37	chr1	104120126	104120126	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attaaggatgttaatgattgGgttgggccaccaaataataa	10	4	0	1			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr1:104120126G>T	uc001duq.2	+	10	1732	c.1116G>T	c.(1114-1116)TGG>TGT	p.W372C	AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.W372C|AMY2B_uc001dus.1_RNA	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	372					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTAATGATTGGGTTGGGCCAC	0.378													T	104120126	G	T	104120126	3	4	143	1	0	0	0	0	1	0	0	0	595	1241	43	5	1146	5	AMY2B	1	104120126	Missense_Mutation	SNP	G	TCGA-CD-8526-01A-11D-2340-08	44872314	104120126	145130495	3	80090											
OR10J1	26476	broad.mit.edu	37	chr1	159410369	159410369	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgcctacctcaagcccaagtCagagaacaccagagaacatg	8	13	2	2			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr1:159410369C>G	uc010piv.1	+	1	821	c.821C>G	c.(820-822)TCA>TGA	p.S274*	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	274	Extracellular (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					AAGCCCAAGTCAGAGAACACC	0.527													G	159410369	C	G	159410369	4	3	143	1	0	0	0	0	0	1	0	0	10910	838	29	5	823	5	OR10J1	1	159410369	Nonsense_Mutation	SNP	C	TCGA-CD-8526-01A-11D-2340-08	55290243	159410369	89840252	4	80091											
OR2T12	127064	broad.mit.edu	37	chr1	248458178	248458178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagagcaggtggcaaaggCcttcttgcgggcttctgtag	15	8	2	2			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr1:248458178C>A	uc010pzj.1	-	1	703	c.703G>T	c.(703-705)GCC>TCC	p.A235S		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	235	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GTGGCAAAGGCCTTCTTGCGG	0.517													A	248458178	C	A	248458178	3	1	143	1	0	0	0	0	1	0	0	0	11019	739	26	5	262	5	OR2T12	1	248458178	Missense_Mutation	SNP	C	TCGA-CD-8526-01A-11D-2340-08	89047809	248458178	792443	5	80092											
CNNM4	26504	broad.mit.edu	37	chr2	97474375	97474375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgcacagacgtctcaactGcagcaaccttggcaggcagc	10	15	1	1			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr2:97474375G>A	uc002swx.2	+	6	2124	c.2026G>A	c.(2026-2028)GCA>ACA	p.A676T	CNNM4_uc010yuy.1_Missense_Mutation_p.A163T	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	cyclin M4	676					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|ovary(1)	3						CGTCTCAACTGCAGCAACCTT	0.607													A	97474375	G	A	97474375	3	1	143	1	0	0	0	0	1	0	0	0	3615	1319	46	2	2048	2	CNNM4	2	97474375	Missense_Mutation	SNP	G	TCGA-CD-8526-01A-11D-2340-08		97474375	145724998	6	80093											
LCT	3938	broad.mit.edu	37	chr2	136566777	136566778	+	Frame_Shift_Del	DEL	TC	TC	-													caaaggtctggaaacaaaagTctgcgtagctgtcaaacaag							TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr2:136566776_136566777GTC>G	uc002tuu.1	-	7	3151_3152	c.3140_3141GAC>C	c.(3139-3141)gacfs	p.D1047fs		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1047	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGAAACAAAAGTCTGCGTAGCT	0.505													-	136566778	TC	-	136566777	7	5	143	1	0	1	0	1	0	0	0	0	8693	1667	58	0	2683	0	LCT	2	136566777	Frame_Shift_Del	DEL	TC	TCGA-CD-8526-01A-11D-2340-08	39092402	136566777	106632596	7	80094											
LRP2	4036	broad.mit.edu	37	chr2	170127594	170127595	+	Frame_Shift_Ins	INS	-	-	A													cgaatagcaacttgggatgaINSaaaaatgaggaaattctgaa							TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr2:170127593_170127594G>GA	uc002ues.3	-	15	2353_2354	c.2140_2141C>TC	c.(2140-2142)tcafs	p.S714fs	LRP2_uc010zdf.1_Intron	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	714					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AACTTGGGATGAAAAAATGAGG	0.441													A	170127595	-	A	170127594	7	5	143	1	0	1	1	0	0	0	0	0	8956	246	9	0	12083	0	LRP2	2	170127594	Frame_Shift_Ins	INS	-	TCGA-CD-8526-01A-11D-2340-08	33560817	170127594	73071779	8	80095											
TTN	7273	broad.mit.edu	37	chr2	179641252	179641252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctgttccatatttgttaGtggctctgcaagtaatgata	9	6	2	1			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr2:179641252G>A	uc010zfg.1	-	28	5563	c.5339C>T	c.(5338-5340)ACT>ATT	p.T1780I	TTN_uc010zfh.1_Missense_Mutation_p.T1734I|TTN_uc010zfi.1_Missense_Mutation_p.T1734I|TTN_uc010zfj.1_Missense_Mutation_p.T1734I|TTN_uc002unb.2_Missense_Mutation_p.T1780I|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1780							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATTTGTTAGTGGCTCTGCA	0.433													A	179641252	G	A	179641252	3	1	143	1	0	0	0	0	1	0	0	0	16732	1029	36	4	105989	4	TTN	2	179641252	Missense_Mutation	SNP	G	TCGA-CD-8526-01A-11D-2340-08	9513658	179641252	63558121	9	80096											
TRAIP	10293	broad.mit.edu	37	chr3	49867138	49867138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacaaaaatagggaaggcaCcaaccagttcctcatctggc	10	11	2	0			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr3:49867138C>T	uc003cxs.1	-	13	1254	c.1148G>A	c.(1147-1149)GGT>GAT	p.G383D	TRAIP_uc010hla.1_Missense_Mutation_p.G284D	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	383	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGAAGGCACCAACCAGTTC	0.577													T	49867138	C	T	49867138	3	4	143	1	0	0	0	0	1	0	0	0	16445	507	18	4	273	4	TRAIP	3	49867138	Missense_Mutation	SNP	C	TCGA-CD-8526-01A-11D-2340-08		49867138	148155292	10	80097											
GPR171	29909	broad.mit.edu	37	chr3	150916325	150916325	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tttgagaggtgatagtacagGataggatcaaagcacaggtt	13	4	1	2			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr3:150916325G>C	uc003eyq.3	-	3	1089	c.849C>G	c.(847-849)ATC>ATG	p.I283M	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_013308	NP_037440	O14626	GP171_HUMAN	G protein-coupled receptor 171	283	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GATAGTACAGGATAGGATCAA	0.438													C	150916325	G	C	150916325	3	2	143	1	0	0	0	0	1	0	0	0	6668	1164	41	5	114	5	GPR171	3	150916325	Missense_Mutation	SNP	G	TCGA-CD-8526-01A-11D-2340-08	101049187	150916325	47106105	11	80098											
MED12L	116931	broad.mit.edu	37	chr3	151129252	151129252	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccgagtggctatgttcagCagcaggcctcgccgtacctg	13	13	1	0			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr3:151129252C>A	uc003eyp.2	+	39	6030	c.5992C>A	c.(5992-5994)CAG>AAG	p.Q1998K	MED12L_uc011bnz.1_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1998	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTATGTTCAGCAGCAGGCCTC	0.527													A	151129252	C	A	151129252	3	1	143	1	0	0	0	0	1	0	0	0	9429	711	25	5	6146	5	MED12L	3	151129252	Missense_Mutation	SNP	C	TCGA-CD-8526-01A-11D-2340-08	212927	151129252	46893178	12	80099											
FAM175A	84142	broad.mit.edu	37	chr4	84383771	84383771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcttgtgtatctaacaaccGagatctcttgaattgccatc	7	10	3	2			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr4:84383771G>A	uc003hou.2	-	9	1146	c.1081C>T	c.(1081-1083)CGG>TGG	p.R361W	MRPS18C_uc011ccu.1_Intron|FAM175A_uc003hot.2_Missense_Mutation_p.R189W|FAM175A_uc003hov.2_Missense_Mutation_p.R252W	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN	coiled-coil domain containing 98	361					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			kidney(1)	1						TCTAACAACCGAGATCTCTTG	0.393													A	84383771	G	A	84383771	3	1	143	1	0	0	0	0	1	0	0	0	5497	1057	37	1	152	1	FAM175A	4	84383771	Missense_Mutation	SNP	G	TCGA-CD-8526-01A-11D-2340-08		84383771	106770505	13	80100											
RXFP3	51289	broad.mit.edu	37	chr5	33938220	33938220	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgtggtctacagcggggggCgctacgacctgctgcccagc	15	14	1	0			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr5:33938220C>A	uc003jic.1	+	1	1732	c.1375C>A	c.(1375-1377)CGC>AGC	p.R459S		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	459	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						CAGCGGGGGGCGCTACGACCT	0.597													A	33938220	C	A	33938220	3	1	143	1	0	0	0	0	1	0	0	0	13761	768	27	5	1377	5	RXFP3	5	33938220	Missense_Mutation	SNP	C	TCGA-CD-8526-01A-11D-2340-08		33938220	146977040	14	80101											
REEP2	51308	broad.mit.edu	37	chr5	137781275	137781275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaacccatcaaaaaagcGcccaaagctgaggtgagggc	11	12	1	2			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr5:137781275G>A	uc003lcz.2	+	7	800	c.678G>A	c.(676-678)GCG>GCA	p.A226A	REEP2_uc003lda.2_Silent_p.A228A|REEP2_uc011cyt.1_Silent_p.A187A	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	226						integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCAAAAAAGCGCCCAAAGCTG	0.592													A	137781275	G	A	137781275	2	1	143	1	0	0	0	0	0	0	0	1	13205	1074	38	1		1	REEP2	5	137781275	Silent	SNP	G	TCGA-CD-8526-01A-11D-2340-08	103843055	137781275	43133985	15	80102											
PCDHB8	56128	broad.mit.edu	37	chr5	140559227	140559227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgggcgcttcagaccgcGgctccccggctttgagcagc	16	14	1	2			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr5:140559227G>A	uc011dai.1	+	1	1798	c.1612G>A	c.(1612-1614)GGC>AGC	p.G538S	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	538	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAGACCGCGGCTCCCCGGC	0.667													A	140559227	G	A	140559227	3	1	143	1	0	0	0	0	1	0	0	0	11548	1116	39	1	1614	1	PCDHB8	5	140559227	Missense_Mutation	SNP	G	TCGA-CD-8526-01A-11D-2340-08	2777952	140559227	40356033	16	80103											
SYNPO	11346	broad.mit.edu	37	chr5	150029689	150029689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccctgcctcggccctcgCgctcctcaccgggcctctac	9	22	2	0			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr5:150029689C>T	uc003lsn.2	+	3	2958	c.2584C>T	c.(2584-2586)CGC>TGC	p.R862C	SYNPO_uc003lso.3_Missense_Mutation_p.R618C|SYNPO_uc003lsp.2_Missense_Mutation_p.R618C	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	862	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGGCCCTCGCGCTCCTCACC	0.701													T	150029689	C	T	150029689	3	4	143	1	0	0	0	0	1	0	0	0	15453	768	27	1	2590	1	SYNPO	5	150029689	Missense_Mutation	SNP	C	TCGA-CD-8526-01A-11D-2340-08	9470462	150029689	30885571	17	80104											
RPS18	6222	broad.mit.edu	37	chr6	33244009	33244009	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacctggagcgactgaagaaGattcgggcccatagagggct	15	9	0	4			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr6:33244009G>A	uc003odp.1	+	5	393	c.348G>A	c.(346-348)AAG>AAA	p.K116K	RPS18_uc010jum.1_RNA|RPS18_uc003odq.1_RNA|B3GALT4_uc003odr.2_5'Flank	NM_022551	NP_072045	P62269	RS18_HUMAN	ribosomal protein S18	116					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome				0						GACTGAAGAAGATTCGGGCCC	0.562													A	33244009	G	A	33244009	2	1	143	1	0	0	0	0	0	0	0	1	13628	933	33	4		4	RPS18	6	33244009	Silent	SNP	G	TCGA-CD-8526-01A-11D-2340-08		33244009	137871058	18	80105											
PHIP	55023	broad.mit.edu	37	chr6	79655835	79655835	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cactcggttgcttctggttcGaaccacagaactagattctg	9	11	2	2			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr6:79655835G>C	uc003pir.2	-	38	4739	c.4513C>G	c.(4513-4515)CGA>GGA	p.R1505G	PHIP_uc003piq.2_Missense_Mutation_p.R529G|PHIP_uc011dyp.1_Missense_Mutation_p.R1504G|IRAK1BP1_uc010kbg.1_RNA|PHIP_uc003pio.3_Missense_Mutation_p.R391G	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1505					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CTTCTGGTTCGAACCACAGAA	0.433													C	79655835	G	C	79655835	3	2	143	1	0	0	0	0	1	0	0	0	11842	1066	37	5	964	5	PHIP	6	79655835	Missense_Mutation	SNP	G	TCGA-CD-8526-01A-11D-2340-08	46411826	79655835	91459232	19	80106											
UTRN	7402	broad.mit.edu	37	chr6	144858781	144858781	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctagatgagattatctgttgGttaacaaaggctgagcatgc	11	6	1	3			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr6:144858781G>C	uc003qkt.2	+	43	6389	c.6297G>C	c.(6295-6297)TGG>TGC	p.W2099C		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2099					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTATCTGTTGGTTAACAAAGG	0.348													C	144858781	G	C	144858781	3	2	143	1	0	0	0	0	1	0	0	0	17100	1270	44	5	6467	5	UTRN	6	144858781	Missense_Mutation	SNP	G	TCGA-CD-8526-01A-11D-2340-08	65202946	144858781	26256286	20	80107											
PURB	5814	broad.mit.edu	37	chr7	44924114	44924114	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgttcctggatttctttcatCtcatccgcataccggcaaaa	6	13	3	0			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr7:44924114C>G	uc003tme.2	-	1	847	c.834G>C	c.(832-834)GAG>GAC	p.E278D		NM_033224	NP_150093	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	278					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding				0						TTTCTTTCATCTCATCCGCAT	0.592													G	44924114	C	G	44924114	3	3	143	1	0	0	0	0	1	0	0	0	12828	912	32	5	108	5	PURB	7	44924114	Missense_Mutation	SNP	C	TCGA-CD-8526-01A-11D-2340-08		44924114	114214549	21	80108											
NOS3	4846	broad.mit.edu	37	chr7	150706297	150706297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgatccacgtgcacaggCggaagatgttccaggctaca	12	11	1	2			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr7:150706297C>T	uc003wif.2	+	19	2562	c.2266C>T	c.(2266-2268)CGG>TGG	p.R756W	NOS3_uc011kuy.1_Missense_Mutation_p.R550W	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	756	FAD-binding FR-type.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			central_nervous_system(5)|large_intestine(2)|skin(1)	8	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CGTGCACAGGCGGAAGATGTT	0.627											OREG0018442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	150706297	C	T	150706297	3	4	143	1	0	0	0	0	1	0	0	0	10544	759	27	1	2618	1	NOS3	7	150706297	Missense_Mutation	SNP	C	TCGA-CD-8526-01A-11D-2340-08	105782183	150706297	8432366	22	80109											
TERF1	7013	broad.mit.edu	37	chr8	73934526	73934526	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagaatatttggtgatccaAattctcatatggtaattatt	6	4	1	2	rs147608592	byFrequency	TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr8:73934526A>G	uc003xzd.2	+	4	638	c.613A>G	c.(613-615)AAT>GAT	p.N205D	TERF1_uc003xze.2_Missense_Mutation_p.N205D	NM_017489	NP_059523	P54274	TERF1_HUMAN	telomeric repeat binding factor 1 isoform 1	205	TRFH dimerization.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			ovary(1)|lung(1)|skin(1)	3	Breast(64;0.218)		Epithelial(68;0.0984)			TGGTGATCCAAATTCTCATAT	0.299													G	73934526	A	G	73934526	3	3	143	1	0	0	0	0	1	0	0	0	15758	14	1	3	627	3	TERF1	8	73934526	Missense_Mutation	SNP	A	TCGA-CD-8526-01A-11D-2340-08		73934526	72429496	23	80110											
FAM135B	51059	broad.mit.edu	37	chr8	139263141	139263141	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggacggtcaccgagatcacaGacaggtggaaatagtcgaac	13	9	2	2			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr8:139263141G>T	uc003yuy.2	-	6	656	c.485C>A	c.(484-486)TCT>TAT	p.S162Y	FAM135B_uc003yux.2_Missense_Mutation_p.S63Y|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	162										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CGAGATCACAGACAGGTGGAA	0.597										HNSCC(54;0.14)			T	139263141	G	T	139263141	3	4	143	1	0	0	0	0	1	0	0	0	5449	942	33	5	3795	5	FAM135B	8	139263141	Missense_Mutation	SNP	G	TCGA-CD-8526-01A-11D-2340-08	65328615	139263141	7100881	24	80111											
PTPRD	5789	broad.mit.edu	37	chr9	8486014	8486014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttgccaagataactggaCggaggttgaagtggtgcctt	15	6	0	2			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr9:8486014C>T	uc003zkk.2	-	27	3514	c.2803G>A	c.(2803-2805)GTC>ATC	p.V935I	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.V926I|PTPRD_uc003zkm.2_Missense_Mutation_p.V922I|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	935	Fibronectin type-III 7.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GATAACTGGACGGAGGTTGAA	0.483										TSP Lung(15;0.13)			T	8486014	C	T	8486014	3	4	143	1	0	0	0	0	1	0	0	0	12799	536	19	1	3079	1	PTPRD	9	8486014	Missense_Mutation	SNP	C	TCGA-CD-8526-01A-11D-2340-08		8486014	132727417	25	80112											
PLIN2	123	broad.mit.edu	37	chr9	19120904	19120904	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcagtgagagggaggTactgttctaccaacagctct	10	11	3	1			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr9:19120904T>C	uc003zno.2	-	5	748	c.569A>G	c.(568-570)TAC>TGC	p.Y190C	PLIN2_uc011lna.1_Missense_Mutation_p.Y162C|PLIN2_uc011lnb.1_Intron	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	adipose differentiation-related protein	190					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				ovary(2)	2						GAGAGGGAGGTACTGTTCTAC	0.413													C	19120904	T	C	19120904	3	2	143	1	0	0	0	0	1	0	0	0	12090	1638	57	3	760	3	PLIN2	9	19120904	Missense_Mutation	SNP	T	TCGA-CD-8526-01A-11D-2340-08	10634890	19120904	122092527	26	80113											
PCGF6	84108	broad.mit.edu	37	chr10	105108736	105108736	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacaagatgtatggggtcagCtcagagagattaatcaggcg	13	7	3	3			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr10:105108736C>G	uc001kwt.2	-	2	449	c.381G>C	c.(379-381)GAG>GAC	p.E127D	PCGF6_uc001kwu.2_Missense_Mutation_p.E127D|PCGF6_uc009xxk.2_RNA|PCGF6_uc009xxl.2_RNA|PCGF6_uc009xxm.2_RNA	NM_001011663	NP_001011663	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6 isoform a	127					negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)	1		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		ATGGGGTCAGCTCAGAGAGAT	0.323													G	105108736	C	G	105108736	3	3	143	1	0	0	0	0	1	0	0	0	11578	796	28	5	707	5	PCGF6	10	105108736	Missense_Mutation	SNP	C	TCGA-CD-8526-01A-11D-2340-08		105108736	30426011	27	80114											
PDCD11	22984	broad.mit.edu	37	chr10	105202182	105202182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatcgagaaggcccgtgcCgtggctgagagggcccttaa	16	10	0	3	rs140340054	by1000genomes	TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr10:105202182C>T	uc001kwy.1	+	32	5007	c.4920C>T	c.(4918-4920)GCC>GCT	p.A1640A		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1640					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGGCCCGTGCCGTGGCTGAGA	0.582													T	105202182	C	T	105202182	2	4	143	1	0	0	0	0	0	0	0	1	11617	639	23	1		1	PDCD11	10	105202182	Silent	SNP	C	TCGA-CD-8526-01A-11D-2340-08	93446	105202182	30332565	28	80115											
TCERG1L	256536	broad.mit.edu	37	chr10	132944832	132944832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcctgttgaggtctccgcGgtccttcaggtccatgggct	13	12	2	1			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr10:132944832G>A	uc001lkp.2	-	7	1212	c.1126C>T	c.(1126-1128)CGC>TGC	p.R376C	TCERG1L_uc009yax.1_RNA	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	376										large_intestine(2)|ovary(2)	4		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		AGGTCTCCGCGGTCCTTCAGG	0.547													A	132944832	G	A	132944832	3	1	143	1	0	0	0	0	1	0	0	0	15683	1116	39	1	658	1	TCERG1L	10	132944832	Missense_Mutation	SNP	G	TCGA-CD-8526-01A-11D-2340-08	27742650	132944832	2589915	29	80116											
PKP3	11187	broad.mit.edu	37	chr11	404544	404544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccactgtagaagggctatcGgaaggaggacttcctgggcc	14	10	0	1			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr11:404544G>A	uc001lpc.2	+	13	2445	c.2369G>A	c.(2368-2370)CGG>CAG	p.R790Q		NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	plakophilin 3	790					cell adhesion	desmosome|nucleus	binding			skin(1)	1		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGGGCTATCGGAAGGAGGAC	0.632													A	404544	G	A	404544	3	1	143	1	0	0	0	0	1	0	0	0	11986	1116	39	1	2419	1	PKP3	11	404544	Missense_Mutation	SNP	G	TCGA-CD-8526-01A-11D-2340-08		404544	134601972	30	80117											
TRIM48	79097	broad.mit.edu	37	chr11	55036792	55036792	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agggcccatcactggactgaGggacaggctcaaccaattct	11	12	3	1			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr11:55036792G>C	uc010rid.1	+	5	739	c.653G>C	c.(652-654)AGG>ACG	p.R218T		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	tripartite motif-containing 48	202						intracellular	zinc ion binding				0						ACTGGACTGAGGGACAGGCTC	0.498													C	55036792	G	C	55036792	3	2	143	1	0	0	0	0	1	0	0	0	16520	1000	35	5	671	5	TRIM48	11	55036792	Missense_Mutation	SNP	G	TCGA-CD-8526-01A-11D-2340-08	54632248	55036792	79969724	31	80118											
NAALADL1	10004	broad.mit.edu	37	chr11	64822123	64822123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaggagttgggaaaggtttCgtcgggtgagctcagcccat	15	9	1	1			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr11:64822123C>T	uc001ocn.2	-	5	707	c.691G>A	c.(691-693)GAA>AAA	p.E231K	NAALADL1_uc010rnw.1_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic	231	Extracellular (Potential).				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity				0						GGAAAGGTTTCGTCGGGTGAG	0.612											OREG0032001	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	T	64822123	C	T	64822123	3	4	143	1	0	0	0	0	1	0	0	0	10129	893	31	1	1587	1	NAALADL1	11	64822123	Missense_Mutation	SNP	C	TCGA-CD-8526-01A-11D-2340-08	9785331	64822123	70184393	32	80119											
ABCB9	23457	broad.mit.edu	37	chr12	123430687	123430687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctcattggcgaagctcCggacagtcttcatggcactg	10	14	3	0			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr12:123430687C>T	uc001udm.3	-	6	1446	c.1136G>A	c.(1135-1137)CGG>CAG	p.R379Q	ABCB9_uc010tai.1_5'Flank|ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Missense_Mutation_p.R379Q|ABCB9_uc010taj.1_Missense_Mutation_p.R379Q|ABCB9_uc001udp.2_Missense_Mutation_p.R379Q|ABCB9_uc001udq.2_Missense_Mutation_p.R161Q|ABCB9_uc001udr.2_Missense_Mutation_p.R379Q	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	379	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GGCGAAGCTCCGGACAGTCTT	0.587													T	123430687	C	T	123430687	3	4	143	1	0	0	0	0	1	0	0	0	48	652	23	1	1192	1	ABCB9	12	123430687	Missense_Mutation	SNP	C	TCGA-CD-8526-01A-11D-2340-08		123430687	10421208	33	80120											
NALCN	259232	broad.mit.edu	37	chr13	101707679	101707679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggtcatccccactttcgtCgctctccacagtcagctgcc	7	17	3	0			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr13:101707679C>T	uc001vox.1	-	44	5374	c.5185G>A	c.(5185-5187)GAC>AAC	p.D1729N		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1729	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCACTTTCGTCGCTCTCCACA	0.473													T	101707679	C	T	101707679	3	4	143	1	0	0	0	0	1	0	0	0	10148	884	31	1	35	1	NALCN	13	101707679	Missense_Mutation	SNP	C	TCGA-CD-8526-01A-11D-2340-08		101707679	13462199	34	80121											
TTLL5	23093	broad.mit.edu	37	chr14	76330134	76330134	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagctatcagcttcaatttGccctgcagcaacttgaacaa	7	12	2	1			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr14:76330134G>T	uc001xrx.2	+	29	3656	c.3451G>T	c.(3451-3453)GCC>TCC	p.A1151S	TTLL5_uc010ask.1_Missense_Mutation_p.A1166S|TTLL5_uc001xrz.2_Missense_Mutation_p.A726S|TTLL5_uc001xsa.2_Missense_Mutation_p.A225S	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1151					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		GCTTCAATTTGCCCTGCAGCA	0.522													T	76330134	G	T	76330134	3	4	143	1	0	0	0	0	1	0	0	0	16727	1319	46	5	3561	5	TTLL5	14	76330134	Missense_Mutation	SNP	G	TCGA-CD-8526-01A-11D-2340-08		76330134	31019406	35	80122											
ZFP106	64397	broad.mit.edu	37	chr15	42743712	42743712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattccaattatttgtactaCgtacactggatttccagttt	5	8	0	0			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr15:42743712C>T	uc001zpw.2	-	2	1024	c.689G>A	c.(688-690)CGT>CAT	p.R230H	ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.R13H|ZFP106_uc001zpy.1_Missense_Mutation_p.R253H	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	230						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		ATTTGTACTACGTACACTGGA	0.413													T	42743712	C	T	42743712	3	4	143	1	0	0	0	0	1	0	0	0	17634	536	19	1	5034	1	ZFP106	15	42743712	Missense_Mutation	SNP	C	TCGA-CD-8526-01A-11D-2340-08		42743712	59787680	36	80123											
FAH	2184	broad.mit.edu	37	chr15	80450463	80450463	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacctcagcatcatcaagcAcctctttactggtcctgtcc	7	15	4	0			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr15:80450463A>G	uc002bfj.2	+	3	225	c.143A>G	c.(142-144)CAC>CGC	p.H48R	FAH_uc002bfk.1_Missense_Mutation_p.H48R|FAH_uc002bfm.1_Missense_Mutation_p.H48R|FAH_uc002bfn.1_5'UTR|FAH_uc010unl.1_Missense_Mutation_p.H48R|FAH_uc002bfl.1_Missense_Mutation_p.H48R	NM_000137	NP_000128	P16930	FAAA_HUMAN	fumarylacetoacetase	48					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding				0						ATCATCAAGCACCTCTTTACT	0.532									Tyrosinemia_type_1				G	80450463	A	G	80450463	3	3	143	1	0	0	0	0	1	0	0	0	5371	159	6	3	149	3	FAH	15	80450463	Missense_Mutation	SNP	A	TCGA-CD-8526-01A-11D-2340-08	37706751	80450463	22080929	37	80124											
DVL2	1856	broad.mit.edu	37	chr17	7133213	7133213	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagaggagctctcgtatccGgccaggtggcgctccagcct	14	13	1	1	rs150085753		TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr17:7133213G>A	uc002gez.1	-	5	852	c.570C>T	c.(568-570)GCC>GCT	p.A190A	DVL2_uc010vtr.1_Silent_p.A184A|DVL2_uc010vts.1_Silent_p.A92A|DVL2_uc010clz.1_3'UTR	NM_004422	NP_004413	O14641	DVL2_HUMAN	dishevelled 2	190					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			lung(1)|kidney(1)	2						TCTCGTATCCGGCCAGGTGGC	0.637													A	7133213	G	A	7133213	2	1	143	1	0	0	0	0	0	0	0	1	4836	1103	39	1		1	DVL2	17	7133213	Silent	SNP	G	TCGA-CD-8526-01A-11D-2340-08		7133213	74061997	38	80125											
TP53	7157	broad.mit.edu	37	chr17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacaggcacaaacacgcaCctcaaagctgttccgtccca	8	15	1	0	rs121912657		TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr17:7577124C>T	uc002gim.2	-	8	1008	c.814G>A	c.(814-816)GTG>ATG	p.V272M	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.V272M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V140M|TP53_uc010cng.1_Missense_Mutation_p.V140M|TP53_uc002gii.1_Missense_Mutation_p.V140M|TP53_uc010cnh.1_Missense_Mutation_p.V272M|TP53_uc010cni.1_Missense_Mutation_p.V272M|TP53_uc002gij.2_Missense_Mutation_p.V272M	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	272	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		V -> M (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V272M(67)|p.V272L(24)|p.V272E(8)|p.0?(7)|p.V272A(7)|p.V272G(4)|p.V272fs*73(4)|p.V272V(3)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAAACACGCACCTCAAAGCTG	0.527		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577124	C	T	7577124	3	4	143	1	0	0	0	0	1	0	0	0	16378	507	18	4	472	4	TP53	17	7577124	Missense_Mutation	SNP	C	TCGA-CD-8526-01A-11D-2340-08	443911	7577124	73618086	39	80126											
XAB2	56949	broad.mit.edu	37	chr19	7684501	7684501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaggctcccaaacactgCggctggcacgctctgctgct	10	16	2	0			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr19:7684501C>T	uc002mgx.2	-	19	2565	c.2539G>A	c.(2539-2541)GCA>ACA	p.A847T		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	847					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						CCAAACACTGCGGCTGGCACG	0.647								Direct_reversal_of_damage|NER					T	7684501	C	T	7684501	3	4	143	1	0	0	0	0	1	0	0	0	17415	768	27	1	32	1	XAB2	19	7684501	Missense_Mutation	SNP	C	TCGA-CD-8526-01A-11D-2340-08		7684501	51444482	40	80127											
CARM1	10498	broad.mit.edu	37	chr19	11015670	11015671	+	Frame_Shift_Del	DEL	AG	AG	-													tgctcagtgtcccgagagacAgagtgcagccgtgtgggcaa							TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr19:11015669_11015670CAG>C	uc002mpz.3	+	1	389_390	c.263_264CAG>C	c.(262-264)acafs	p.T88fs	CARM1_uc010dxn.3_Non-coding_Transcript	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA.	88					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCCCGAGAGACAGAGTGCAGCC	0.574													-	11015671	AG	-	11015670	7	5	143	1	0	1	0	1	0	0	0	0	2655	175	7	0	270	0	CARM1	19	11015670	Frame_Shift_Del	DEL	AG	TCGA-CD-8526-01A-11D-2340-08	3331169	11015670	48113313	41	80128											
FFAR3	2865	broad.mit.edu	37	chr19	35850476	35850476	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtggcggggctgttggcGgccacgctgctcaacttcct	16	12	1	0			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr19:35850476G>A	uc002nzd.2	+	2	759	c.684G>A	c.(682-684)GCG>GCA	p.A228A	FFAR3_uc010xsu.1_Intron	NM_005304	NP_005295	O14843	FFAR3_HUMAN	free fatty acid receptor 3	228	Helical; Name=6; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding				0	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GGCTGTTGGCGGCCACGCTGC	0.637													A	35850476	G	A	35850476	2	1	143	1	0	0	0	0	0	0	0	1	5829	1103	39	1		1	FFAR3	19	35850476	Silent	SNP	G	TCGA-CD-8526-01A-11D-2340-08	24834806	35850476	23278507	42	80129											
PRX	57716	broad.mit.edu	37	chr19	40901644	40901645	+	Frame_Shift_Ins	INS	-	-	G													cttgcccattttagcggctgINSggacctgcccctgcaggcca							TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr19:40901643_40901644T>TG	uc002onr.3	-	6	2884_2885	c.2615_2616A>CA	c.(2614-2616)ccafs	p.P872fs	PRX_uc002onq.3_Frame_Shift_Ins_p.P733fs|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	872					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTTTAGCGGCTGGGACCTGCCC	0.629													G	40901645	-	G	40901644	7	5	143	1	0	1	1	0	0	0	0	0	12642	1348	47	0	1774	0	PRX	19	40901644	Frame_Shift_Ins	INS	-	TCGA-CD-8526-01A-11D-2340-08	5051168	40901644	18227339	43	80130											
CYP2A6	1548	broad.mit.edu	37	chr19	41352841	41352841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaattgggatccagcgtgCgctggttgtgctccaccttc	14	11	0	0			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr19:41352841C>T	uc002opl.3	-	5	791	c.770G>A	c.(769-771)CGC>CAC	p.R257H	CYP2A6_uc010ehe.1_Missense_Mutation_p.R53H|CYP2A6_uc010ehf.1_RNA	NM_000762	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A,	257					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	ATCCAGCGTGCGCTGGTTGTG	0.572													T	41352841	C	T	41352841	3	4	143	1	0	0	0	0	1	0	0	0	4162	768	27	1	734	1	CYP2A6	19	41352841	Missense_Mutation	SNP	C	TCGA-CD-8526-01A-11D-2340-08	451197	41352841	17776142	44	80131											
ZNF772	400720	broad.mit.edu	37	chr19	57985198	57985198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagcaagtatgggtttgCggctaaaggttttcccacat	12	8	0	1			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr19:57985198C>T	uc002qot.2	-	5	1175	c.914G>A	c.(913-915)CGC>CAC	p.R305H	ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Missense_Mutation_p.R264H|ZNF772_uc010ygz.1_Missense_Mutation_p.R193H|ZNF772_uc010yha.1_Missense_Mutation_p.R251H|ZNF772_uc002qou.2_Missense_Mutation_p.R193H	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	zinc finger protein 772 isoform 1	305	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TATGGGTTTGCGGCTAAAGGT	0.458													T	57985198	C	T	57985198	3	4	143	1	0	0	0	0	1	0	0	0	18142	768	27	1	559	1	ZNF772	19	57985198	Missense_Mutation	SNP	C	TCGA-CD-8526-01A-11D-2340-08	16632357	57985198	1143785	45	80132											
AP1B1	162	broad.mit.edu	37	chr22	29747700	29747700	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacacgcagctgacctgggcGatgttggcctgagaggccag	15	12	0	2	rs147984110		TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr22:29747700G>A	uc003afj.2	-	8	1237	c.1053C>T	c.(1051-1053)ATC>ATT	p.I351I	AP1B1_uc003afi.2_Silent_p.I351I|AP1B1_uc003afk.2_Silent_p.I351I|AP1B1_uc003afl.2_Silent_p.I351I|AP1B1_uc011ako.1_5'Flank	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	351					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						TGACCTGGGCGATGTTGGCCT	0.572													A	29747700	G	A	29747700	2	1	143	1	0	0	0	0	0	0	0	1	731	1048	37	1		1	AP1B1	22	29747700	Silent	SNP	G	TCGA-CD-8526-01A-11D-2340-08		29747700	21556866	46	80133											
PPPDE2	27351	broad.mit.edu	37	chr22	41997112	41997112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtcctgttagctctggcCgttgggtctgcccacggagc	14	13	2	0	rs144622202		TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr22:41997112C>T	uc003ban.1	-	6	569	c.496G>A	c.(496-498)GGC>AGC	p.G166S	uc003bam.1_5'Flank|PPPDE2_uc011apb.1_RNA	NM_015704	NP_056519	Q6ICB0	PPDE2_HUMAN	PPPDE peptidase domain containing 2	166											0						TAGCTCTGGCCGTTGGGTCTG	0.532													T	41997112	C	T	41997112	3	4	143	1	0	0	0	0	1	0	0	0	12409	652	23	1	14	1	PPPDE2	22	41997112	Missense_Mutation	SNP	C	TCGA-CD-8526-01A-11D-2340-08	12249412	41997112	9307454	47	80134											
C22orf40	150383	broad.mit.edu	37	chr22	46644115	46644115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtcccacatagctgtacgGagctgtcaaggtacagagtt	11	10	1	1			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chr22:46644115G>A	uc003bhe.2	-	2	108	c.67C>T	c.(67-69)CCG>TCG	p.P23S	C22orf40_uc003bhc.2_Missense_Mutation_p.P23S|C22orf40_uc003bhd.2_Missense_Mutation_p.P23S|C22orf40_uc003bhf.2_RNA|uc003bhg.1_5'Flank	NM_207327	NP_997210	Q6NVV7	CV040_HUMAN	hypothetical protein LOC150383	23											0						TAGCTGTACGGAGCTGTCAAG	0.582													A	46644115	G	A	46644115	3	1	143	1	0	0	0	0	1	0	0	0	2148	1174	41	4	316	4	C22orf40	22	46644115	Missense_Mutation	SNP	G	TCGA-CD-8526-01A-11D-2340-08	4647003	46644115	4660451	48	80135											
NLGN4X	57502	broad.mit.edu	37	chrX	5811225	5811225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctttttgtagtacagcGccgcaaaagctaagatgttg	10	8	0	1			TCGA-CD-8526-01A-11D-2340-08	TCGA-CD-8526-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da9892ce-21ca-435e-a73c-38ba1612bebb	bf2b79e2-2d4d-4714-ba49-9da643c998a5	g.chrX:5811225G>A	uc010ndh.2	-	6	2585	c.2084C>T	c.(2083-2085)GCG>GTG	p.A695V	NLGN4X_uc004crp.2_Missense_Mutation_p.A715V|NLGN4X_uc004crq.2_Missense_Mutation_p.A695V|NLGN4X_uc010ndi.2_Missense_Mutation_p.A732V|NLGN4X_uc004crr.2_Missense_Mutation_p.A695V|NLGN4X_uc010ndj.2_Missense_Mutation_p.A695V	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	695	Helical; (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						GTAGTACAGCGCCGCAAAAGC	0.507													A	5811225	G	A	5811225	3	1	143	1	0	0	0	0	1	0	0	0	10464	1087	38	1	370	1	NLGN4X	23	5811225	Missense_Mutation	SNP	G	TCGA-CD-8526-01A-11D-2340-08		5811225	149459335	49	80136											
MIB2	142678	broad.mit.edu	37	chr1	1564542	1564542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggcctccccggcagcgcGgagctgacggtgggcgcggc	19	15	0	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:1564542G>A	uc001agg.2	+	17	2533	c.2406G>A	c.(2404-2406)GCG>GCA	p.A802A	MIB2_uc001agh.2_Silent_p.A788A|MIB2_uc001agi.2_Silent_p.A798A|MIB2_uc001agj.2_Silent_p.A643A|MIB2_uc001agk.2_Silent_p.A737A|MIB2_uc001agl.1_Silent_p.A758A|MIB2_uc001agm.2_Silent_p.A679A|MIB2_uc010nyq.1_Silent_p.A758A|MIB2_uc009vkh.2_Silent_p.A608A|MIB2_uc001agn.2_Silent_p.A434A|MIB2_uc001ago.2_5'UTR	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	mindbomb homolog 2	802					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCGGCAGCGCGGAGCTGACGG	0.771													A	1564542	G	A	1564542	2	1	144	1	0	0	0	0	0	0	0	1	9567	1103	39	1		1	MIB2	1	1564542	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08		1564542	247686079	1	80137											
PRDM16	63976	broad.mit.edu	37	chr1	3328498	3328498	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gcggggcccgaggagaagttCgagagccgcctggaggactc	18	11	0	2	rs35579804		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:3328498C>G	uc001akf.2	+	9	1817	c.1737C>G	c.(1735-1737)TTC>TTG	p.F579L	PRDM16_uc001akc.2_Missense_Mutation_p.F579L|PRDM16_uc001akd.2_Missense_Mutation_p.F579L|PRDM16_uc001ake.2_Missense_Mutation_p.F579L|PRDM16_uc009vlh.2_Missense_Mutation_p.F280L	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	579					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGGAGAAGTTCGAGAGCCGCC	0.662			T	EVI1	MDS|AML								G	3328498	C	G	3328498	3	3	144	1	0	0	0	0	1	0	0	0	12457	883	31	5	1771	5	PRDM16	1	3328498	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	1763956	3328498	245922123	2	80138											
DNAJC11	55735	broad.mit.edu	37	chr1	6706039	6706039	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagtttgttgtcacaaagCtggagagacacagagacaga	11	8	1	3			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:6706039C>T	uc001aof.2	-	8	811	c.705_splice	c.e8-1	p.C235_splice	DNAJC11_uc010nzt.1_Splice_Site_p.C197_splice|DNAJC11_uc001aog.2_Splice_Site_p.C235_splice|DNAJC11_uc010nzu.1_Splice_Site_p.C145_splice	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11						protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCACAAAGCTGGAGAGACA	0.532													T	6706039	C	T	6706039	5	4	144	1	0	0	0	0	0	0	1	0	4630	811	28	2	1011	2	DNAJC11	1	6706039	Splice_Site	SNP	C	TCGA-CD-8527-01A-11D-2340-08	3377541	6706039	242544582	3	80139											
CAMTA1	23261	broad.mit.edu	37	chr1	7724156	7724156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacatccggcactcgccaCccggggagcggagcttcagc	12	17	1	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:7724156C>T	uc001aoi.2	+	9	1756	c.1549C>T	c.(1549-1551)CCC>TCC	p.P517S		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCACTCGCCACCCGGGGAGCG	0.592													T	7724156	C	T	7724156	3	4	144	1	0	0	0	0	1	0	0	0	2613	507	18	4	1583	4	CAMTA1	1	7724156	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	1018117	7724156	241526465	4	80140											
NBPF3	84224	broad.mit.edu	37	chr1	21806543	21806543	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttacttttcctacttttccaGgctcagcagggagctgctgg	10	11	1	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:21806543G>C	uc001ber.2	+	11	1559	c.1209_splice	c.e11-1	p.R403_splice	NBPF3_uc001bes.2_Splice_Site_p.R347_splice|NBPF3_uc009vqb.2_Splice_Site_p.R391_splice|NBPF3_uc010odm.1_Splice_Site_p.R333_splice	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3							cytoplasm				upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TACTTTTCCAGGCTCAGCAGG	0.448													C	21806543	G	C	21806543	5	2	144	1	0	0	0	0	0	0	1	0	10197	1014	35	5	1246	5	NBPF3	1	21806543	Splice_Site	SNP	G	TCGA-CD-8527-01A-11D-2340-08	14082387	21806543	227444078	5	80141											
GJA4	2701	broad.mit.edu	37	chr1	35260778	35260778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggccaaaaacccccaagtCgtcccagcagctctgcttct	7	16	2	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:35260778C>T	uc001bya.2	+	2	1052	c.964C>T	c.(964-966)CGT>TGT	p.R322C	GJA4_uc009vul.2_Missense_Mutation_p.R398C|GJA4_uc009vum.1_Missense_Mutation_p.R322C	NM_002060	NP_002051	P35212	CXA4_HUMAN	connexin 37	322	Cytoplasmic (Potential).				cell-cell junction assembly	integral to plasma membrane				central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ACCCCCAAGTCGTCCCAGCAG	0.592													T	35260778	C	T	35260778	3	4	144	1	0	0	0	0	1	0	0	0	6403	884	31	1	966	1	GJA4	1	35260778	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	13454235	35260778	213989843	6	80142											
RIMS3	9783	broad.mit.edu	37	chr1	41092239	41092239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggaagactgggacaggcGcctggtgagggatccgagtg	19	8	0	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:41092239G>A	uc001cfu.1	-	8	1346	c.877C>T	c.(877-879)CGC>TGC	p.R293C	RIMS3_uc001cfv.1_Missense_Mutation_p.R293C	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	293					neurotransmitter transport	cell junction|synapse					0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			TGGGACAGGCGCCTGGTGAGG	0.637													A	41092239	G	A	41092239	3	1	144	1	0	0	0	0	1	0	0	0	13369	1087	38	1	53	1	RIMS3	1	41092239	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	5831461	41092239	208158382	7	80143											
CC2D1B	200014	broad.mit.edu	37	chr1	52825375	52825375	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccctgagccagatgccatAccttcccaatcctcatgagc	7	16	1	3			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:52825375A>G	uc001ctq.1	-	8	1080	c.942_splice	c.e8+1	p.K314_splice	CC2D1B_uc001ctr.2_5'Flank|CC2D1B_uc001cts.2_Splice_Site_p.K5_splice	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B											ovary(2)	2						cagatgCCATACCTTCCCAAT	0.403													G	52825375	A	G	52825375	5	3	144	1	0	0	0	0	0	0	1	0	2727	405	14	3	1700	3	CC2D1B	1	52825375	Splice_Site	SNP	A	TCGA-CD-8527-01A-11D-2340-08	11733136	52825375	196425246	8	80144											
TMEM48	55706	broad.mit.edu	37	chr1	54298164	54298164	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaacatttgaaaactcaccTgcatagaactccacattgaa	4	10	1	3			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:54298164T>C	uc001cvs.2	-	3	520	c.279A>G	c.(277-279)GCA>GCG	p.A93A	TMEM48_uc010onu.1_Silent_p.A93A|TMEM48_uc001cvt.2_5'UTR|TMEM48_uc009vzk.2_RNA|TMEM48_uc010onv.1_5'UTR	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	transmembrane protein 48	93	Cytoplasmic (Potential).				mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			ovary(1)|pancreas(1)	2						AAAACTCACCTGCATAGAACT	0.303													C	54298164	T	C	54298164	2	2	144	1	0	0	0	0	0	0	0	1	16169	1594	55	3		3	TMEM48	1	54298164	Silent	SNP	T	TCGA-CD-8527-01A-11D-2340-08	1472789	54298164	194952457	9	80145											
GFI1	2672	broad.mit.edu	37	chr1	92946613	92946613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagggggaagggctgggcttCgtccagcgatgggcacattg	18	9	0	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:92946613C>T	uc001dou.3	-	4	495	c.331G>A	c.(331-333)GAA>AAA	p.E111K	GFI1_uc001dov.3_Missense_Mutation_p.E111K|GFI1_uc001dow.3_Missense_Mutation_p.E111K	NM_001127215	NP_001120687	Q99684	GFI1_HUMAN	growth factor independent 1	111					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(1)	1		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		GGCTGGGCTTCGTCCAGCGAT	0.677													T	92946613	C	T	92946613	3	4	144	1	0	0	0	0	1	0	0	0	6339	893	31	1	953	1	GFI1	1	92946613	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	38648449	92946613	156304008	10	80146											
FNDC7	163479	broad.mit.edu	37	chr1	109271412	109271412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagagtcctgcaccatgCggggcttgccctgtggctca	14	13	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:109271412C>T	uc001dvx.2	+	8	1528	c.1528C>T	c.(1528-1530)CGG>TGG	p.R510W	FNDC7_uc010ova.1_Missense_Mutation_p.R277W	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	511	Fibronectin type-III 6.					extracellular region				ovary(1)|skin(1)	2		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTGCACCATGCGGGGCTTGCC	0.577													T	109271412	C	T	109271412	3	4	144	1	0	0	0	0	1	0	0	0	5973	759	27	1	1558	1	FNDC7	1	109271412	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	16324799	109271412	139979209	11	80147											
CELSR2	1952	broad.mit.edu	37	chr1	109794328	109794328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaatgcccgcctggaatacCgccttgctggggtgggacat	13	12	0	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:109794328C>T	uc001dxa.3	+	1	1688	c.1627C>T	c.(1627-1629)CGC>TGC	p.R543C		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	543	Cadherin 4.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCTGGAATACCGCCTTGCTGG	0.557													T	109794328	C	T	109794328	3	4	144	1	0	0	0	0	1	0	0	0	3222	652	23	1	1629	1	CELSR2	1	109794328	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	522916	109794328	139456293	12	80148											
RSBN1	54665	broad.mit.edu	37	chr1	114309057	114309057	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catttggtttagtttagcttCatctacccactgtacgcact	6	11	2	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:114309057C>T	uc001edq.2	-	7	1990	c.1954G>A	c.(1954-1956)GAA>AAA	p.E652K	RSBN1_uc001edr.2_RNA	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	652						nucleus				ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTTTAGCTTCATCTACCCAC	0.348													T	114309057	C	T	114309057	3	4	144	1	0	0	0	0	1	0	0	0	13696	835	29	4	458	4	RSBN1	1	114309057	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	4514729	114309057	134941564	13	80149											
PDE4DIP	9659	broad.mit.edu	37	chr1	144906453	144906453	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttaatctgtatgttccTggtcagagactccatatcag	7	9	4	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:144906453T>G	uc001elw.3	-	18	2695	c.2404A>C	c.(2404-2406)AGG>CGG	p.R802R	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.R868R|PDE4DIP_uc001emc.1_Silent_p.R802R|PDE4DIP_uc001emd.1_Silent_p.R802R|PDE4DIP_uc001emb.1_Silent_p.R965R|PDE4DIP_uc001eme.1_Intron|PDE4DIP_uc001emf.1_Silent_p.R587R	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	802	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTATGTTCCTGGTCAGAGAC	0.438			T	PDGFRB	MPD								G	144906453	T	G	144906453	2	3	144	1	0	0	0	0	0	0	0	1	11643	1579	55	5		5	PDE4DIP	1	144906453	Silent	SNP	T	TCGA-CD-8527-01A-11D-2340-08	30597396	144906453	104344168	14	80150											
RPRD2	23248	broad.mit.edu	37	chr1	150443610	150443610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacccctgtacgggatgaacGgagtgggacacccacccagg	13	13	0	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:150443610G>A	uc009wlr.2	+	11	2387	c.2186G>A	c.(2185-2187)CGG>CAG	p.R729Q	RPRD2_uc010pcc.1_Missense_Mutation_p.R703Q|RPRD2_uc001eup.3_Missense_Mutation_p.R703Q	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	729	Ser-rich.						protein binding			ovary(1)	1						CGGGATGAACGGAGTGGGACA	0.547													A	150443610	G	A	150443610	3	1	144	1	0	0	0	0	1	0	0	0	13617	1116	39	1	2228	1	RPRD2	1	150443610	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	5537157	150443610	98807011	15	80151											
MUC1	4582	broad.mit.edu	37	chr1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatcgtgggctggcggggTggtggagcccagggctggcc	21	10	0	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:155161799T>G	uc010pft.1	-	2	400	c.334A>C	c.(334-336)ACC>CCC	p.T112P	RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_5'Flank|MUC1_uc001fhz.2_5'Flank|MUC1_uc010pfb.1_Intron|MUC1_uc010pfc.1_Intron|MUC1_uc009wph.2_Intron|MUC1_uc010pfd.1_Intron|MUC1_uc010pfe.1_Intron|MUC1_uc010pff.1_Intron|MUC1_uc009wpi.2_Intron|MUC1_uc010pfg.1_Intron|MUC1_uc010pfh.1_Intron|MUC1_uc010pfi.1_Intron|MUC1_uc010pfj.1_Intron|MUC1_uc010pfk.1_Intron|MUC1_uc010pfl.1_Intron|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Intron|MUC1_uc001fip.2_Intron|MUC1_uc009wqg.2_Intron|MUC1_uc009wpo.2_Intron|MUC1_uc009wps.2_Intron|MUC1_uc009wpt.2_Intron|MUC1_uc001fic.2_Intron|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Intron|MUC1_uc009wpv.2_Intron|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Intron|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Intron|MUC1_uc001fid.2_Intron|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Intron|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Intron|MUC1_uc001fiq.2_Intron|MUC1_uc009wpz.2_Intron|MUC1_uc010pfn.1_Intron|MUC1_uc009wqa.2_Intron|MUC1_uc010pfo.1_Intron|MUC1_uc010pfp.1_Intron|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Intron|MUC1_uc009wqc.2_Intron|MUC1_uc009wqd.2_Intron|MUC1_uc009wqb.2_Intron|MUC1_uc010pfq.1_Intron|MUC1_uc010pfr.1_Intron|MUC1_uc001fit.2_Intron|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Intron|MUC1_uc009wpm.2_Intron|MUC1_uc009wpp.2_Intron|MUC1_uc010pfs.1_Intron|MUC1_uc001fik.2_Intron|MUC1_uc001fio.2_Intron|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Intron|MUC1_uc001fis.1_Intron|uc009wqh.2_5'Flank|MUC1_uc001fiv.1_Missense_Mutation_p.T121P|MUC1_uc001fiw.1_Missense_Mutation_p.T112P			P15941	MUC1_HUMAN	SubName: Full=MUC1 isoform M13;	112	Extracellular (Potential).|3.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711			T	IGH@	B-NHL								G	155161799	T	G	155161799	3	3	144	1	0	0	0	0	1	0	0	0	9970	1711	59	5		5	MUC1	1	155161799	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	4718189	155161799	94088822	16	80152											
CLK2	1196	broad.mit.edu	37	chr1	155234561	155234561	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcttcacactgcgctcatctCgcttctaggagcagaggaga	10	12	5	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:155234561C>A	uc001fjy.2	-	9	1228	c.938G>T	c.(937-939)CGA>CTA	p.R313L	RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Missense_Mutation_p.R312L|CLK2_uc001fjx.2_Missense_Mutation_p.R85L|CLK2_uc009wqm.2_Missense_Mutation_p.R313L	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	313	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCGCTCATCTCGCTTCTAGGA	0.507								Other_conserved_DNA_damage_response_genes					A	155234561	C	A	155234561	3	1	144	1	0	0	0	0	1	0	0	0	3537	884	31	5	581	5	CLK2	1	155234561	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	72762	155234561	94016060	17	80153											
OR10K2	391107	broad.mit.edu	37	chr1	158390237	158390237	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagccactagtcccatacaCaccccatgtcccattagcac	5	18	0	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:158390237C>A	uc010pii.1	-	1	420	c.420G>T	c.(418-420)GTG>GTT	p.V140V		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	140	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					GTCCCATACACACCCCATGTC	0.498													A	158390237	C	A	158390237	2	1	144	1	0	0	0	0	0	0	0	1	10914	465	17	5		5	OR10K2	1	158390237	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	3155676	158390237	90860384	18	80154											
OR10X1	128367	broad.mit.edu	37	chr1	158549497	158549497	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagggacctgtccacccaagTtagacccatgatgatcagat	10	11	1	4			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:158549497T>G	uc010pin.1	-	1	193	c.193A>C	c.(193-195)ACT>CCT	p.T65P		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	65	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TCCACCCAAGTTAGACCCATG	0.478													G	158549497	T	G	158549497	3	3	144	1	0	0	0	0	1	0	0	0	10922	1725	60	5	782	5	OR10X1	1	158549497	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	159260	158549497	90701124	19	80155											
SPTA1	6708	broad.mit.edu	37	chr1	158637761	158637761	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caatcatctcttggccagttTtctgtatgttttccagctgg	8	10	3	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:158637761T>G	uc001fst.1	-	15	2124	c.1925A>C	c.(1924-1926)AAA>ACA	p.K642T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	642	Spectrin 7.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TTGGCCAGTTTTCTGTATGTT	0.473													G	158637761	T	G	158637761	3	3	144	1	0	0	0	0	1	0	0	0	15115	1841	64	5	5486	5	SPTA1	1	158637761	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	88264	158637761	90612860	20	80156											
DDR2	4921	broad.mit.edu	37	chr1	162741839	162741839	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcggtgttgtgaagccagtCcagcccagtggccctgaggg	16	11	0	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:162741839C>T	uc001gcf.2	+	14	1995	c.1530C>T	c.(1528-1530)GTC>GTT	p.V510V	DDR2_uc001gcg.2_Silent_p.V510V	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	510	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			TGAAGCCAGTCCAGCCCAGTG	0.577													T	162741839	C	T	162741839	2	4	144	1	0	0	0	0	0	0	0	1	4337	842	30	4		4	DDR2	1	162741839	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	4104078	162741839	86508782	21	80157											
QSOX1	5768	broad.mit.edu	37	chr1	180163458	180163458	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcctccatgcaccggGtggggagtcccaacgccgct	13	16	0	0	rs143337247	byFrequency	TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:180163458G>T	uc001gnz.2	+	11	1474	c.1399G>T	c.(1399-1401)GTG>TTG	p.V467L	QSOX1_uc001gny.2_Missense_Mutation_p.V467L|QSOX1_uc001goa.2_Missense_Mutation_p.V467L|QSOX1_uc001goc.2_Missense_Mutation_p.V9L	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	467	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						CATGCACCGGGTGGGGAGTCC	0.627													T	180163458	G	T	180163458	3	4	144	1	0	0	0	0	1	0	0	0	12883	1261	44	5	1441	5	QSOX1	1	180163458	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	17421619	180163458	69087163	22	80158											
LAMC2	3918	broad.mit.edu	37	chr1	183190066	183190066	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagctctgcagaatacagtGtccataagatcacctctacc	7	13	3	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:183190066G>T	uc001gqa.2	+	5	924	c.610G>T	c.(610-612)GTC>TTC	p.V204F	LAMC2_uc001gpz.3_Missense_Mutation_p.V204F|LAMC2_uc010poa.1_5'UTR	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	204					cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						AGAATACAGTGTCCATAAGAT	0.448													T	183190066	G	T	183190066	3	4	144	1	0	0	0	0	1	0	0	0	8615	1377	48	5	628	5	LAMC2	1	183190066	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	3026608	183190066	66060555	23	80159											
CDC73	79577	broad.mit.edu	37	chr1	193111146	193111147	+	Frame_Shift_Del	DEL	AG	AG	-													tgacccgagatattgtcagcAgagagagagtatggaggaca					rs80356649		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:193111145_193111146CAG>C	uc001gtb.3	+	6	921_922	c.678_679CAG>C	c.(676-681)agcagafs	p.S226fs		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	Homo sapiens cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CDC73), mRNA.	226					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						ATATTGTCAGCAGAGAGAGAGT	0.396													-	193111147	AG	-	193111146	7	5	144	1	0	1	0	1	0	0	0	0	3085	180	7	0	705	0	CDC73	1	193111146	Frame_Shift_Del	DEL	AG	TCGA-CD-8527-01A-11D-2340-08	9921080	193111146	56139475	24	80160											
ATP2B4	493	broad.mit.edu	37	chr1	203680140	203680140	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcatagcttaccgggacttCgatgacacagagccctcttg	10	12	1	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:203680140C>T	uc001gzw.2	+	12	2819	c.1935C>T	c.(1933-1935)TTC>TTT	p.F645F	ATP2B4_uc001gzv.2_Silent_p.F645F|ATP2B4_uc009xaq.2_Silent_p.F645F	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	645	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCGGGACTTCGATGACACAG	0.532													T	203680140	C	T	203680140	2	4	144	1	0	0	0	0	0	0	0	1	1142	883	31	1		1	ATP2B4	1	203680140	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	10568994	203680140	45570481	25	80161											
CENPF	1063	broad.mit.edu	37	chr1	214820722	214820722	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgaattgacaaaaatggaCaaaatgtcctttgttgaaaa	7	5	0	3			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:214820722C>A	uc001hkm.2	+	13	7983	c.7809C>A	c.(7807-7809)GAC>GAA	p.D2603E		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2699	Potential.|Sufficient for self-association.|Sufficient for centromere localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAAAAATGGACAAAATGTCCT	0.348													A	214820722	C	A	214820722	3	1	144	1	0	0	0	0	1	0	0	0	3231	477	17	5	7855	5	CENPF	1	214820722	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	11140582	214820722	34429899	26	80162											
GJC2	57165	broad.mit.edu	37	chr1	228345589	228345589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctgacggctgtgggcggcGaggccatctactcggacgag	17	11	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:228345589G>A	uc001hsk.2	+	2	305	c.130G>A	c.(130-132)GAG>AAG	p.E44K		NM_020435	NP_065168	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	44	Helical; (Potential).				cell death	connexon complex|integral to membrane					0		Prostate(94;0.0405)				TGTGGGCGGCGAGGCCATCTA	0.647													A	228345589	G	A	228345589	3	1	144	1	0	0	0	0	1	0	0	0	6415	1059	37	1	132	1	GJC2	1	228345589	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	13524867	228345589	20905032	27	80163											
TTC13	79573	broad.mit.edu	37	chr1	231047280	231047280	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taaggataagattaagttgcAgacagcatcagcctcctaga	9	8	1	3			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:231047280A>T	uc001huf.3	-	20	2276	c.2245T>A	c.(2245-2247)TGC>AGC	p.C749S	TTC13_uc009xfi.2_Missense_Mutation_p.C696S|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.C695S|TTC13_uc009xfk.1_Missense_Mutation_p.C638S	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	749							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ATTAAGTTGCAGACAGCATCA	0.289													T	231047280	A	T	231047280	3	4	144	1	0	0	0	0	1	0	0	0	16677	188	7	5	353	5	TTC13	1	231047280	Missense_Mutation	SNP	A	TCGA-CD-8527-01A-11D-2340-08	2701691	231047280	18203341	28	80164											
NID1	4811	broad.mit.edu	37	chr1	236157005	236157005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcggccgtcgcgatccaCgcaccagcagtagccggtgc	13	17	0	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:236157005C>T	uc001hxo.2	-	13	2797	c.2695G>A	c.(2695-2697)GTG>ATG	p.V899M	NID1_uc009xgd.2_Missense_Mutation_p.V766M|NID1_uc009xgc.2_Translation_Start_Site	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	899	Thyroglobulin type-1.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCGCGATCCACGCACCAGCAG	0.692													T	236157005	C	T	236157005	3	4	144	1	0	0	0	0	1	0	0	0	10414	536	19	1	1080	1	NID1	1	236157005	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	5109725	236157005	13093616	29	80165											
CHRM3	1131	broad.mit.edu	37	chr1	240072345	240072345	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttggaatctgggctactggCtgtgctacatcaacagcacc	10	11	2	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:240072345C>A	uc001hyp.2	+	5	2373	c.1594C>A	c.(1594-1596)CTG>ATG	p.L532M		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	532	Helical; Name=7; (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GGGCTACTGGCTGTGCTACAT	0.483													A	240072345	C	A	240072345	3	1	144	1	0	0	0	0	1	0	0	0	3378	796	28	5	1596	5	CHRM3	1	240072345	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	3915340	240072345	9178276	30	80166											
OR2T3	343173	broad.mit.edu	37	chr1	248637589	248637589	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaggagcatgatgcagtcaaGaatgaaccaagaaaagtagt	12	5	1	4			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:248637589G>C	uc001iel.1	+	1	938	c.938G>C	c.(937-939)AGA>ACA	p.R313T		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	313	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGCAGTCAAGAATGAACCAA	0.483													C	248637589	G	C	248637589	3	2	144	1	0	0	0	0	1	0	0	0	11023	942	33	5	940	5	OR2T3	1	248637589	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	8565244	248637589	613032	31	80167											
GREB1	9687	broad.mit.edu	37	chr2	11770190	11770190	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactttgtcttcagccaaccTggaggccagctggagagcat	11	12	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:11770190T>C	uc002rbk.1	+	26	4866	c.4566T>C	c.(4564-4566)CCT>CCC	p.P1522P	GREB1_uc002rbp.1_Silent_p.P520P	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1522						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCAGCCAACCTGGAGGCCAGC	0.552													C	11770190	T	C	11770190	2	2	144	1	0	0	0	0	0	0	0	1	6760	1567	55	3		3	GREB1	2	11770190	Silent	SNP	T	TCGA-CD-8527-01A-11D-2340-08		11770190	231429183	32	80168											
NTSR2	23620	broad.mit.edu	37	chr2	11802131	11802131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggaggctgcggatccggCgcacgtctttatgtctcacc	13	13	2	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:11802131C>T	uc002rbq.3	-	2	934	c.860G>A	c.(859-861)CGC>CAC	p.R287H		NM_012344	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	287	Cytoplasmic (Potential).				sensory perception	integral to plasma membrane					0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GCGGATCCGGCGCACGTCTTT	0.488													T	11802131	C	T	11802131	3	4	144	1	0	0	0	0	1	0	0	0	10711	768	27	1	384	1	NTSR2	2	11802131	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	31941	11802131	231397242	33	80169											
TRIB2	28951	broad.mit.edu	37	chr2	12880542	12880542	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcatggctgcccggcttaCgtaagcccagagatcttgaa	11	11	1	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:12880542C>T	uc002rbv.3	+	3	2090	c.654C>T	c.(652-654)TAC>TAT	p.Y218Y	TRIB2_uc010yjp.1_Silent_p.Y82Y	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	tribbles homolog 2	218	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			stomach(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCCCGGCTTACGTAAGCCCAG	0.582													T	12880542	C	T	12880542	2	4	144	1	0	0	0	0	0	0	0	1	16480	547	19	1		1	TRIB2	2	12880542	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	1078411	12880542	230318831	34	80170											
NT5C1B	93034	broad.mit.edu	37	chr2	18757571	18757571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccccatcaaaggctacaCggagctgagtgtcacagtaa	9	12	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:18757571C>T	uc002rcz.2	-	9	1492	c.1388G>A	c.(1387-1389)CGT>CAT	p.R463H	NT5C1B_uc002rcy.2_Missense_Mutation_p.R463H|NT5C1B_uc010exr.2_Missense_Mutation_p.R405H|NT5C1B_uc010yju.1_Missense_Mutation_p.R403H|NT5C1B_uc002rda.2_Missense_Mutation_p.R403H|NT5C1B_uc010yjv.1_Missense_Mutation_p.R480H|NT5C1B_uc010yjw.1_Missense_Mutation_p.R446H|NT5C1B_uc010exs.2_Missense_Mutation_p.R465H	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 1	463					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AAAGGCTACACGGAGCTGAGT	0.443													T	18757571	C	T	18757571	3	4	144	1	0	0	0	0	1	0	0	0	10686	536	19	1	452	1	NT5C1B	2	18757571	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	5877029	18757571	224441802	35	80171											
APOB	338	broad.mit.edu	37	chr2	21250815	21250815	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccttctattttggctgagGctgggtcaagtgatggaaga	13	7	2	3			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:21250815G>T	uc002red.2	-	14	2080	c.1952C>A	c.(1951-1953)GCC>GAC	p.A651D		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	651	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTGGCTGAGGCTGGGTCAAG	0.398													T	21250815	G	T	21250815	3	4	144	1	0	0	0	0	1	0	0	0	785	1203	42	5	11803	5	APOB	2	21250815	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	2493244	21250815	221948558	36	80172											
SIX3	6496	broad.mit.edu	37	chr2	45171770	45171770	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgagcccggctgccccacGcacggctcggcagagtcgcc	14	19	0	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:45171770G>A	uc002run.1	+	2	1077	c.870G>A	c.(868-870)ACG>ACA	p.T290T		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	290					visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCTGCCCCACGCACGGCTCGG	0.716													A	45171770	G	A	45171770	2	1	144	1	0	0	0	0	0	0	0	1	14348	1074	38	1		1	SIX3	2	45171770	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	23920955	45171770	198027603	37	80173											
ALMS1	7840	broad.mit.edu	37	chr2	73677634	73677634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccagaagactgtgatacCaattttaccctctactttct	5	11	2	4			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:73677634C>T	uc002sje.1	+	10	4094	c.3983C>T	c.(3982-3984)CCA>CTA	p.P1328L	ALMS1_uc002sjf.1_Missense_Mutation_p.P1284L|ALMS1_uc002sjg.2_Missense_Mutation_p.P714L|ALMS1_uc002sjh.1_Missense_Mutation_p.P714L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1326	17.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						ACTGTGATACCAATTTTACCC	0.443													T	73677634	C	T	73677634	3	4	144	1	0	0	0	0	1	0	0	0	535	594	21	4	4007	4	ALMS1	2	73677634	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	28505864	73677634	169521739	38	80174											
SLC4A5	57835	broad.mit.edu	37	chr2	74452025	74452025	+	Frame_Shift_Del	DEL	T	T	-													tcctcttcttgtctgtctccTttttttccttctctgggagg							TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:74452024_74452024CT>C	uc002sko.1	-	23	3239	c.3237_3237AG>G	c.(3235-3237)aagfs	p.K1079fs	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Frame_Shift_Del_p.K1063fs|SLC4A5_uc010ffc.1_Frame_Shift_Del_p.K982fs|SLC4A5_uc002skp.1_Frame_Shift_Del_p.K961fs|SLC4A5_uc002sks.1_Frame_Shift_Del_p.R971fs	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	1079						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGTCTGTCTCCTTTTTTTCCT	0.517													-	74452025	T	-	74452025	7	5	144	1	0	1	0	1	0	0	0	0	14657	1609	56	0	189	0	SLC4A5	2	74452025	Frame_Shift_Del	DEL	T	TCGA-CD-8527-01A-11D-2340-08	774391	74452025	168747348	39	80175											
SNRNP200	23020	broad.mit.edu	37	chr2	96953698	96953698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatatcgctcgcatcaaccGgccagccgactaagcaaaga	8	13	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:96953698G>A	uc002svu.2	-	25	3354	c.3268C>T	c.(3268-3270)CGG>TGG	p.R1090W	SNRNP200_uc010yuj.1_5'Flank|SNRNP200_uc002svw.1_Missense_Mutation_p.R162W	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1090	SEC63 1.		R -> L (in RP33).			catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						CGCATCAACCGGCCAGCCGAC	0.507													A	96953698	G	A	96953698	3	1	144	1	0	0	0	0	1	0	0	0	14852	1115	39	1	3226	1	SNRNP200	2	96953698	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	22501673	96953698	146245675	40	80176											
CNTNAP5	129684	broad.mit.edu	37	chr2	125262120	125262120	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgacagaacgcgtagcTgaaatcctcacaggtactgt	9	9	1	3			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:125262120T>C	uc002tno.2	+	8	1675	c.1311T>C	c.(1309-1311)GCT>GCC	p.A437A	CNTNAP5_uc010flu.2_Silent_p.A438A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	437	Laminin G-like 2.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		AACGCGTAGCTGAAATCCTCA	0.493													C	125262120	T	C	125262120	2	2	144	1	0	0	0	0	0	0	0	1	3650	1567	55	3		3	CNTNAP5	2	125262120	Silent	SNP	T	TCGA-CD-8527-01A-11D-2340-08	28308422	125262120	117937253	41	80177											
UGGT1	56886	broad.mit.edu	37	chr2	128932357	128932357	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcctagggctactttcAgctgaaagccaacccaggag	10	12	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:128932357A>C	uc002tps.2	+	31	3642	c.3464A>C	c.(3463-3465)CAG>CCG	p.Q1155P	UGGT1_uc002tpr.2_Missense_Mutation_p.Q1131P	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	1155					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1						GGCTACTTTCAGCTGAAAGCC	0.393													C	128932357	A	C	128932357	3	2	144	1	0	0	0	0	1	0	0	0	16938	188	7	5	3586	5	UGGT1	2	128932357	Missense_Mutation	SNP	A	TCGA-CD-8527-01A-11D-2340-08	3670237	128932357	114267016	42	80178											
LRP1B	53353	broad.mit.edu	37	chr2	141027915	141027915	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaatctttccattagtgcaGctgcaacaacaaagaaaaaa	6	9	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:141027915G>T	uc002tvj.1	-	86	14115	c.13143C>A	c.(13141-13143)AAC>AAA	p.N4381K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4381	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTAGTGCAGCTGCAACAAC	0.398										TSP Lung(27;0.18)			T	141027915	G	T	141027915	3	4	144	1	0	0	0	0	1	0	0	0	8955	985	34	5	680	5	LRP1B	2	141027915	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	12095558	141027915	102171458	43	80179											
LRP1B	53353	broad.mit.edu	37	chr2	141356374	141356374	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatctcatgatacttggatgTtgttcattccagttggtcca	9	8	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:141356374T>G	uc002tvj.1	-	43	7992	c.7020A>C	c.(7018-7020)CAA>CAC	p.Q2340H		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2340	Extracellular (Potential).|LDL-receptor class B 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACTTGGATGTTGTTCATTCC	0.338										TSP Lung(27;0.18)			G	141356374	T	G	141356374	3	3	144	1	0	0	0	0	1	0	0	0	8955	1722	60	5	6975	5	LRP1B	2	141356374	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	328459	141356374	101842999	44	80180											
GALNT13	114805	broad.mit.edu	37	chr2	155115555	155115555	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccctactatggctggtggCctattttctattgacagaaa	8	10	1	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:155115555C>A	uc002tyr.3	+	8	1446	c.879C>A	c.(877-879)GGC>GGA	p.G293G	GALNT13_uc002tyt.3_Silent_p.G293G|GALNT13_uc010foc.1_Silent_p.G112G|GALNT13_uc010fod.2_Silent_p.G46G	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	293	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						TGGCTGGTGGCCTATTTTCTA	0.358													A	155115555	C	A	155115555	2	1	144	1	0	0	0	0	0	0	0	1	6211	726	26	5		5	GALNT13	2	155115555	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	13759181	155115555	88083818	45	80181											
SCN3A	6328	broad.mit.edu	37	chr2	166010963	166010963	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttatcactcagtaccTgagcttcttcctgttgcttt	6	11	3	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:166010963T>C	uc002ucx.2	-	11	1871	c.1379A>G	c.(1378-1380)CAG>CGG	p.Q460R	SCN3A_uc002ucy.2_Missense_Mutation_p.Q460R|SCN3A_uc002ucz.2_Missense_Mutation_p.Q460R|SCN3A_uc002uda.1_Missense_Mutation_p.Q329R|SCN3A_uc002udb.1_Missense_Mutation_p.Q329R	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	460						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	ACTCAGTACCTGAGCTTCTTC	0.368													C	166010963	T	C	166010963	3	2	144	1	0	0	0	0	1	0	0	0	13918	1594	55	3	4695	3	SCN3A	2	166010963	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	10895408	166010963	77188410	46	80182											
SCN1A	6323	broad.mit.edu	37	chr2	166848165	166848165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccactctctcctagaacccGctttgtaaaagcaaataaga	5	12	1	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:166848165G>A	uc010zcz.1	-	26	5605	c.5587C>T	c.(5587-5589)CGG>TGG	p.R1863W		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1874						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCTAGAACCCGCTTTGTAAAA	0.473													A	166848165	G	A	166848165	3	1	144	1	0	0	0	0	1	0	0	0	13914	1086	38	1	413	1	SCN1A	2	166848165	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	837202	166848165	76351208	47	80183											
SCN9A	6335	broad.mit.edu	37	chr2	167089905	167089905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttaaagctctcagtgtcCgaagggatttaatggggcca	12	8	2	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:167089905C>T	uc010fpl.2	-	21	4177	c.3836G>A	c.(3835-3837)CGG>CAG	p.R1279Q	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1290	Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).|III.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCTCAGTGTCCGAAGGGATTT	0.343													T	167089905	C	T	167089905	3	4	144	1	0	0	0	0	1	0	0	0	13925	652	23	1	2125	1	SCN9A	2	167089905	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	241740	167089905	76109468	48	80184											
FASTKD1	79675	broad.mit.edu	37	chr2	170411638	170411638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctattttaatcttacctaaGcagtaattctctaagtttcg	4	8	3	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:170411638G>A	uc002uev.3	-	7	1598	c.1210C>T	c.(1210-1212)CTT>TTT	p.L404F	FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.L390F	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	404					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(4)	4						TCTTACCTAAGCAGTAATTCT	0.318													A	170411638	G	A	170411638	3	1	144	1	0	0	0	0	1	0	0	0	5685	971	34	2	1369	2	FASTKD1	2	170411638	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	3321733	170411638	72787735	49	80185											
MAP1D	254042	broad.mit.edu	37	chr2	172945099	172945099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgatcacgtcgaggggcGcgcagatcctgaccaaacta	11	12	2	3			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:172945099G>A	uc002uhk.2	+	10	1046	c.973G>A	c.(973-975)GCG>ACG	p.A325T	MAP1D_uc010zdw.1_Missense_Mutation_p.A207T	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	methionine aminopeptidase 1D precursor	325					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GTCGAGGGGCGCGCAGATCCT	0.602													A	172945099	G	A	172945099	3	1	144	1	0	0	0	0	1	0	0	0	9229	1087	38	1	1011	1	MAP1D	2	172945099	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	2533461	172945099	70254274	50	80186											
AGPS	8540	broad.mit.edu	37	chr2	178386012	178386012	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttagggtgacgcagacttaCgatgcaggtgcttgtatcta	12	7	1	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:178386012C>T	uc002ull.2	+	18	1760	c.1713C>T	c.(1711-1713)TAC>TAT	p.Y571Y	AGPS_uc010zfb.1_Silent_p.Y481Y	NM_003659	NP_003650	O00116	ADAS_HUMAN	alkyldihydroxyacetone phosphate synthase	571					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			ovary(2)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			CGCAGACTTACGATGCAGGTG	0.398													T	178386012	C	T	178386012	2	4	144	1	0	0	0	0	0	0	0	1	394	547	19	1		1	AGPS	2	178386012	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	5440913	178386012	64813361	51	80187											
TTN	7273	broad.mit.edu	37	chr2	179430415	179430415	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggctgcatttcaacaacgTaccccaggactctgctaccg	9	14	2	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:179430415T>C	uc010zfg.1	-	275	72964	c.72740A>G	c.(72739-72741)TAC>TGC	p.Y24247C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y17942C|TTN_uc010zfi.1_Missense_Mutation_p.Y17875C|TTN_uc010zfj.1_Missense_Mutation_p.Y17750C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25174							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAACAACGTACCCCAGGAC	0.473													C	179430415	T	C	179430415	3	2	144	1	0	0	0	0	1	0	0	0	16732	1638	57	3	27683	3	TTN	2	179430415	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	1044403	179430415	63768958	52	80188											
ZNF385B	151126	broad.mit.edu	37	chr2	180634389	180634389	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacctcacagaaggagaaaaGaattttctttttctctttgc	6	9	3	3			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:180634389G>T	uc002unn.3	-	3	698	c.94C>A	c.(94-96)CTT>ATT	p.L32I		NM_152520	NP_689733	Q569K4	Z385B_HUMAN	zinc finger protein 385B isoform 1	32						nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			AAGGAGAAAAGAATTTTCTTT	0.473													T	180634389	G	T	180634389	3	4	144	1	0	0	0	0	1	0	0	0	17874	942	33	5	1382	5	ZNF385B	2	180634389	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	1203974	180634389	62564984	53	80189											
MARCH4	57574	broad.mit.edu	37	chr2	217234856	217234856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtcattgaagagcatgCggcagcggcacttgaggaga	15	8	2	4			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:217234856C>T	uc002vgb.2	-	1	1895	c.128G>A	c.(127-129)CGC>CAC	p.R43H		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4	43						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GAAGAGCATGCGGCAGCGGCA	0.652													T	217234856	C	T	217234856	3	4	144	1	0	0	0	0	1	0	0	0	9303	768	27	1	1120	1	MARCH4	2	217234856	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	36600467	217234856	25964517	54	80190											
CCDC108	255101	broad.mit.edu	37	chr2	219894339	219894339	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcggagcgctccccaAggttgacccagctgaagttg	13	13	0	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:219894339A>C	uc002vjl.1	-	11	1520	c.1436T>G	c.(1435-1437)CTT>CGT	p.L479R	CCDC108_uc010fwa.1_5'UTR|CCDC108_uc010zkp.1_Missense_Mutation_p.L468R|CCDC108_uc010zkq.1_Missense_Mutation_p.L414R	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	479						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGCTCCCCAAGGTTGACCCA	0.557											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	219894339	A	C	219894339	3	2	144	1	0	0	0	0	1	0	0	0	2743	72	3	5	4441	5	CCDC108	2	219894339	Missense_Mutation	SNP	A	TCGA-CD-8527-01A-11D-2340-08	2659483	219894339	23305034	55	80191											
EPHA4	2043	broad.mit.edu	37	chr2	222301249	222301249	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacgatgcacatagctcataTcagataaatacttcatccca	4	12	3	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:222301249T>A	uc002vmq.2	-	13	2258	c.2216A>T	c.(2215-2217)GAT>GTT	p.D739V	EPHA4_uc002vmr.2_Missense_Mutation_p.D739V|EPHA4_uc010zlm.1_Missense_Mutation_p.D680V|EPHA4_uc010zln.1_Missense_Mutation_p.D739V	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	739	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ATAGCTCATATCAGATAAATA	0.478													A	222301249	T	A	222301249	3	1	144	1	0	0	0	0	1	0	0	0	5169	1435	50	5	764	5	EPHA4	2	222301249	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	2406910	222301249	20898124	56	80192											
COL4A3	1285	broad.mit.edu	37	chr2	228173944	228173944	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgtttgtgaaggtcctgcGatcgccatagccgttcacag	11	11	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:228173944G>A	uc002vom.1	+	50	4827	c.4665G>A	c.(4663-4665)GCG>GCA	p.A1555A	COL4A3_uc002von.1_Silent_p.A1555A|COL4A3_uc002voo.1_Intron|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron|COL4A3_uc010fxf.1_5'UTR	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1555	Required for the anti-angiogenic activity of tumstatin.|Collagen IV NC1.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAGGTCCTGCGATCGCCATAG	0.468													A	228173944	G	A	228173944	2	1	144	1	0	0	0	0	0	0	0	1	3691	1045	37	1		1	COL4A3	2	228173944	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	5872695	228173944	15025429	57	80193											
SPHKAP	80309	broad.mit.edu	37	chr2	228860405	228860405	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtacatctctggtatcaaggCtgtcactgtagagggcaaga	12	8	3	2	rs141675542		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:228860405C>G	uc002vpq.2	-	8	4501	c.4454G>C	c.(4453-4455)AGC>ACC	p.S1485T	SPHKAP_uc002vpp.2_Missense_Mutation_p.S1485T|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1485						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGTATCAAGGCTGTCACTGTA	0.537													G	228860405	C	G	228860405	3	3	144	1	0	0	0	0	1	0	0	0	15047	797	28	5	668	5	SPHKAP	2	228860405	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	686461	228860405	14338968	58	80194											
TRIP12	9320	broad.mit.edu	37	chr2	230652221	230652221	+	Frame_Shift_Del	DEL	T	T	-													gattttggggagaaacttacTttttttctatccaatctagg							TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:230652221delT	uc002vpw.1	-	32	4879	c.4770delA	c.(4768-4770)AAAfs	p.K1590fs	TRIP12_uc002vpx.1_Frame_Shift_Del_p.K1638fs|TRIP12_uc002vpy.1_Frame_Shift_Del_p.K1320fs	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1590					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGAAACTTACTTTTTTTCTAT	0.358													-	230652221	T	-	230652221	7	5	144	1	0	1	0	1	0	0	0	0	16553	1623	56	0	1248	0	TRIP12	2	230652221	Frame_Shift_Del	DEL	T	TCGA-CD-8527-01A-11D-2340-08	1791816	230652221	12547152	59	80195											
SP110	3431	broad.mit.edu	37	chr2	231077646	231077646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggttgtggtgggggcagcGccagtggggtatggagggag	25	4	0	0	rs114017623	by1000genomes	TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:231077646G>A	uc002vqh.3	-	4	653	c.413C>T	c.(412-414)GCG>GTG	p.A138V	SP110_uc002vqg.3_Missense_Mutation_p.A138V|SP110_uc002vqi.3_Missense_Mutation_p.A138V|SP110_uc010fxk.2_Missense_Mutation_p.A138V	NM_004509	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform a	138					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TGGGGGCAGCGCCAGTGGGGT	0.572													A	231077646	G	A	231077646	3	1	144	1	0	0	0	0	1	0	0	0	14961	1087	38	1	1856	1	SP110	2	231077646	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	425425	231077646	12121727	60	80196											
NCKIPSD	51517	broad.mit.edu	37	chr3	48718855	48718855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccagtgtttctccgcacCagctccatcagctcggcccc	9	18	2	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:48718855C>T	uc003cun.2	-	5	1051	c.957G>A	c.(955-957)CTG>CTA	p.L319L	NCKIPSD_uc003cum.2_Silent_p.L312L|NCKIPSD_uc010hkh.1_Silent_p.L319L	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain isoform	319					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTCTCCGCACCAGCTCCATCA	0.637													T	48718855	C	T	48718855	2	4	144	1	0	0	0	0	0	0	0	1	10225	581	21	4		4	NCKIPSD	3	48718855	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08		48718855	149303575	61	80197											
CISH	1154	broad.mit.edu	37	chr3	50645297	50645297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaggatcggggctgtcgCttcgggtatcagcagtgcag	17	9	1	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:50645297C>T	uc003dax.2	-	3	699	c.518G>A	c.(517-519)AGC>AAC	p.S173N	CISH_uc010hlq.2_Missense_Mutation_p.S190N	NM_145071	NP_659508	Q9NSE2	CISH_HUMAN	cytokine-inducible SH2-containing protein	173					intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular					0				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GGGGCTGTCGCTTCGGGTATC	0.627													T	50645297	C	T	50645297	3	4	144	1	0	0	0	0	1	0	0	0	3437	797	28	2	262	2	CISH	3	50645297	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	1926442	50645297	147377133	62	80198											
PRICKLE2	166336	broad.mit.edu	37	chr3	64139012	64139012	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgtgccagtgtcgcccCtcagcttctgtgcattcatc	8	14	4	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:64139012C>T	uc003dmf.2	-	6	1219	c.633G>A	c.(631-633)GAG>GAA	p.E211E		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	211	LIM zinc-binding 2.					cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		AGTGTCGCCCCTCAGCTTCTG	0.498													T	64139012	C	T	64139012	2	4	144	1	0	0	0	0	0	0	0	1	12487	680	24	4		4	PRICKLE2	3	64139012	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	13493715	64139012	133883418	63	80199											
ROBO2	6092	broad.mit.edu	37	chr3	77542474	77542474	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatttcgttgtcaagtccaAggagatcctcaaccaactgt	8	10	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:77542474A>G	uc003dpy.3	+	5	1390	c.747A>G	c.(745-747)CAA>CAG	p.Q249Q	ROBO2_uc003dpz.2_Silent_p.Q249Q|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.Q249Q	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	249	Ig-like C2-type 3.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTCAAGTCCAAGGAGATCCTC	0.418													G	77542474	A	G	77542474	2	3	144	1	0	0	0	0	0	0	0	1	13514	69	3	3		3	ROBO2	3	77542474	Silent	SNP	A	TCGA-CD-8527-01A-11D-2340-08	13403462	77542474	120479956	64	80200											
GABRR3	200959	broad.mit.edu	37	chr3	97731269	97731269	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcatggatgaaggatcttTtagagtggacaaaaaagata	10	3	2	3			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:97731269T>C	uc011bgr.1	-	4	449	c.449A>G	c.(448-450)AAA>AGA	p.K150R		NM_001105580	NP_001099050	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 3	150	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0						GAAGGATCTTTTAGAGTGGAC	0.438													C	97731269	T	C	97731269	3	2	144	1	0	0	0	0	1	0	0	0	6178	1841	64	3	977	3	GABRR3	3	97731269	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	20188795	97731269	100291161	65	80201											
DPPA4	55211	broad.mit.edu	37	chr3	109046852	109046852	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attctattcccattggaggcTttttattaagaccttgttcc	6	9	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:109046852T>G	uc003dxq.3	-	7	953	c.898A>C	c.(898-900)AGC>CGC	p.S300R	DPPA4_uc011bho.1_3'UTR	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	300						nucleus	protein binding			upper_aerodigestive_tract(1)	1						CATTGGAGGCTTTTTATTAAG	0.368													G	109046852	T	G	109046852	3	3	144	1	0	0	0	0	1	0	0	0	4736	1609	56	5	20	5	DPPA4	3	109046852	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	11315583	109046852	88975578	66	80202											
CD96	10225	broad.mit.edu	37	chr3	111264137	111264145	+	In_Frame_Del	DEL	TCTGCACTT	TCTGCACTT	-													gagaatgggtcaaaatggacTctgcacttaaggaatatgtc							TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:111264136_111264144CTCTGCACTT>C	uc003dxw.3	+	1	475_483	c.305_313CTCTGCACTT>C	c.(304-315)actctgcactta>aCta	p.LHL103del	CD96_uc003dxv.3_In_Frame_Del_p.LHL103del|CD96_uc003dxx.3_In_Frame_Del_p.LHL103del|CD96_uc010hpy.1_In_Frame_Del_p.LHL103del	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	103	Ig-like V-type 1.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TCAAAATGGACTCTGCACTTAAGGAATAT	0.45									Opitz Trigonocephaly syndrome				-	111264145	TCTGCACTT	-	111264137	7	5	144	1	0	1	0	1	0	0	0	0	3048	1538	54	0	312	0	CD96	3	111264137	In_Frame_Del	DEL	TCTGCACTT	TCGA-CD-8527-01A-11D-2340-08	2217285	111264137	86758293	67	80203											
PHLDB2	90102	broad.mit.edu	37	chr3	111603429	111603429	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actctcttggagggctggaaGgtcggaaggcatctggctcg	16	9	2	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:111603429G>C	uc010hqa.2	+	2	916	c.505G>C	c.(505-507)GGT>CGT	p.G169R	PHLDB2_uc003dyc.2_Missense_Mutation_p.G196R|PHLDB2_uc003dyd.2_Missense_Mutation_p.G169R|PHLDB2_uc003dyg.2_Missense_Mutation_p.G169R|PHLDB2_uc003dyh.2_Missense_Mutation_p.G169R|PHLDB2_uc003dye.3_Missense_Mutation_p.G169R|PHLDB2_uc003dyf.3_Missense_Mutation_p.G169R	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	169						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						AGGGCTGGAAGGTCGGAAGGC	0.552													C	111603429	G	C	111603429	3	2	144	1	0	0	0	0	1	0	0	0	11852	1000	35	5	592	5	PHLDB2	3	111603429	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	339292	111603429	86419001	68	80204											
MYLK	4638	broad.mit.edu	37	chr3	123375981	123375981	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atggcagcctaccttcaggtTtctctcctaccgttgtgagt	9	12	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:123375981T>G	uc003ego.2	-	24	4562	c.4280A>C	c.(4279-4281)AAA>ACA	p.K1427T	MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Missense_Mutation_p.K227T|MYLK_uc011bjw.1_Missense_Mutation_p.K1427T|MYLK_uc003egp.2_Missense_Mutation_p.K1358T|MYLK_uc003egq.2_Missense_Mutation_p.K1427T|MYLK_uc003egr.2_Missense_Mutation_p.K1358T|MYLK_uc003egs.2_Missense_Mutation_p.K1251T	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1427	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACCTTCAGGTTTCTCTCCTAC	0.478													G	123375981	T	G	123375981	3	3	144	1	0	0	0	0	1	0	0	0	10056	1841	64	5	1508	5	MYLK	3	123375981	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	11772552	123375981	74646449	69	80205											
ALDH1L1	10840	broad.mit.edu	37	chr3	125877314	125877314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatagatgatggagccatgcCggggggcactgattatctcc	14	9	1	3	rs139977408		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:125877314C>T	uc003eim.1	-	3	486	c.296G>A	c.(295-297)CGG>CAG	p.R99Q	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.R99Q|ALDH1L1_uc003eio.2_5'Flank|ALDH1L1_uc010hsf.1_Missense_Mutation_p.R125Q|ALDH1L1_uc003eip.1_Missense_Mutation_p.R8Q|ALDH1L1_uc011bkj.1_Intron	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	99	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GGAGCCATGCCGGGGGGCACT	0.597													T	125877314	C	T	125877314	3	4	144	1	0	0	0	0	1	0	0	0	494	652	23	1	2496	1	ALDH1L1	3	125877314	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	2501333	125877314	72145116	70	80206											
ZIC1	7545	broad.mit.edu	37	chr3	147127956	147127956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtgaccacctttggcgcGtcccgccaccactccgcggg	13	18	0	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:147127956G>A	uc003ewe.2	+	1	776	c.57G>A	c.(55-57)GCG>GCA	p.A19A		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	19					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A19A(1)		ovary(1)|central_nervous_system(1)	2						CCTTTGGCGCGTCCCGCCACC	0.731													A	147127956	G	A	147127956	2	1	144	1	0	0	0	0	0	0	0	1	17675	1132	40	1		1	ZIC1	3	147127956	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	21250642	147127956	50894474	71	80207											
MED12L	116931	broad.mit.edu	37	chr3	151082925	151082925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagatcctcagtgacaatgCggccaatcgctacagctttg	9	12	1	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:151082925C>T	uc003eyp.2	+	20	3049	c.3011C>T	c.(3010-3012)GCG>GTG	p.A1004V	MED12L_uc011bnz.1_Missense_Mutation_p.A864V|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.A167V	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1004					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTGACAATGCGGCCAATCGC	0.473													T	151082925	C	T	151082925	3	4	144	1	0	0	0	0	1	0	0	0	9429	768	27	1	3089	1	MED12L	3	151082925	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	3954969	151082925	46939505	72	80208											
IFT80	57560	broad.mit.edu	37	chr3	159995162	159995162	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccagcctgaagaagtacTatttcagcctcctgtatgtt	9	10	1	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:159995162T>C	uc011boy.1	-	18	2464	c.2031A>G	c.(2029-2031)ATA>ATG	p.I677M	IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Missense_Mutation_p.I540M|IFT80_uc003fdd.1_Missense_Mutation_p.I360M|IFT80_uc003fde.1_Missense_Mutation_p.I540M	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	WD repeat domain 56	677						cilium axoneme|microtubule basal body				ovary(1)	1			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAAGAAGTACTATTTCAGCCT	0.353													C	159995162	T	C	159995162	3	2	144	1	0	0	0	0	1	0	0	0	7564	1512	53	3	314	3	IFT80	3	159995162	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	8912237	159995162	38027268	73	80209											
USP13	8975	broad.mit.edu	37	chr3	179462842	179462842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacccagatgaactgatcGcttatgaactaacgagaagg	9	9	1	5	rs144016604	byFrequency	TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:179462842G>A	uc003fkh.2	+	13	1627	c.1546G>A	c.(1546-1548)GCT>ACT	p.A516T	USP13_uc003fkf.2_Missense_Mutation_p.A516T	NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	516					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TGAACTGATCGCTTATGAACT	0.483													A	179462842	G	A	179462842	3	1	144	1	0	0	0	0	1	0	0	0	17041	1087	38	1	1596	1	USP13	3	179462842	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	19467680	179462842	18559588	74	80210											
TP63	8626	broad.mit.edu	37	chr3	189584565	189584565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggaagacagagtgtgctGgtaccttatgagccacccca	11	11	0	3			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:189584565G>A	uc003fry.2	+	6	950	c.861G>A	c.(859-861)CTG>CTA	p.L287L	TP63_uc003frx.2_Silent_p.L287L|TP63_uc003frz.2_Silent_p.L287L|TP63_uc010hzc.1_Silent_p.L287L|TP63_uc003fsa.2_Silent_p.L193L|TP63_uc003fsb.2_Silent_p.L193L|TP63_uc003fsc.2_Silent_p.L193L|TP63_uc003fsd.2_Silent_p.L193L|TP63_uc010hzd.1_Silent_p.L108L|TP63_uc003fse.1_Silent_p.L168L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	287					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGAGTGTGCTGGTACCTTATG	0.463									Hay-Wells_syndrome	HNSCC(45;0.13)			A	189584565	G	A	189584565	2	1	144	1	0	0	0	0	0	0	0	1	16389	1335	47	4		4	TP63	3	189584565	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	10121723	189584565	8437865	75	80211											
FGF12	2257	broad.mit.edu	37	chr3	191888291	191888291	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgagggcttggttttcTtcactctgttccccttcata	9	10	4	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:191888291T>C	uc003fsx.2	-	4	1395	c.569A>G	c.(568-570)AAG>AGG	p.K190R	FGF12_uc003fsy.2_Missense_Mutation_p.K128R	NM_021032	NP_066360	P61328	FGF12_HUMAN	fibroblast growth factor 12 isoform 1	190				K -> E (in Ref. 2; AAB18786).	cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			ovary(1)|skin(1)|lung(1)|pancreas(1)	4	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		CTTGGTTTTCTTCACTCTGTT	0.428													C	191888291	T	C	191888291	3	2	144	1	0	0	0	0	1	0	0	0	5841	1609	56	3	170	3	FGF12	3	191888291	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	2303726	191888291	6134139	76	80212											
C3orf43	255798	broad.mit.edu	37	chr3	196242124	196242124	+	Translation_Start_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacaaaaacaaagcaaaacaAaaaaagcaataaatgtttga	4	5	0	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:196242124A>T	uc003fws.2	-	1	114	c.-43T>A	c.(-45--41)TTTTG>TTATG		C3orf43_uc003fwr.2_Translation_Start_Site	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	hypothetical protein LOC255798							integral to membrane				ovary(1)	1	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00298)		aagcaaaacaaaaaaagcaaT	0.348													T	196242124	A	T	196242124	1	4	144	1	0	0	0	0	0	0	0	0	2230	29	1	5		5	C3orf43	3	196242124	Translation_Start_Site	SNP	A	TCGA-CD-8527-01A-11D-2340-08	4353833	196242124	1780306	77	80213											
PDS5A	23244	broad.mit.edu	37	chr4	39910138	39910138	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaatagcttcttctggatcAtgtgatctaacctttaaata	6	8	4	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr4:39910138A>G	uc003guv.3	-	11	1650	c.1110T>C	c.(1108-1110)CAT>CAC	p.H370H	PDS5A_uc010ifo.2_Silent_p.H330H|PDS5A_uc003guw.3_Silent_p.H370H	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	370					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						CTTCTGGATCATGTGATCTAA	0.343													G	39910138	A	G	39910138	2	3	144	1	0	0	0	0	0	0	0	1	11691	214	8	3		3	PDS5A	4	39910138	Silent	SNP	A	TCGA-CD-8527-01A-11D-2340-08		39910138	151244138	78	80214											
ANKRD17	26057	broad.mit.edu	37	chr4	73984530	73984530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctagccacaatggagTgttccccttcttgttacgta	9	11	1	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr4:73984530T>C	uc003hgp.2	-	22	4180	c.4063A>G	c.(4063-4065)ACT>GCT	p.T1355A	ANKRD17_uc003hgo.2_Missense_Mutation_p.T1242A|ANKRD17_uc003hgq.2_Missense_Mutation_p.T1104A|ANKRD17_uc003hgr.2_Missense_Mutation_p.T1354A|ANKRD17_uc011cbd.1_Missense_Mutation_p.T920A	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1355	ANK 24.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CACAATGGAGTGTTCCCCTTC	0.393													C	73984530	T	C	73984530	3	2	144	1	0	0	0	0	1	0	0	0	646	1696	59	3	3800	3	ANKRD17	4	73984530	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	34074392	73984530	117169746	79	80215											
SEC31A	22872	broad.mit.edu	37	chr4	83784523	83784523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagttcaaggtattttccaCgagaatcatcctcaaagttt	7	8	3	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr4:83784523C>T	uc003hnf.2	-	12	1621	c.1457G>A	c.(1456-1458)CGT>CAT	p.R486H	SEC31A_uc003hne.2_Missense_Mutation_p.R258H|SEC31A_uc011ccl.1_Missense_Mutation_p.R486H|SEC31A_uc003hnl.2_Missense_Mutation_p.R486H|SEC31A_uc003hng.2_Missense_Mutation_p.R486H|SEC31A_uc003hnh.2_Missense_Mutation_p.R486H|SEC31A_uc003hni.2_Missense_Mutation_p.R486H|SEC31A_uc003hnj.2_Missense_Mutation_p.R486H|SEC31A_uc011ccm.1_Missense_Mutation_p.R481H|SEC31A_uc011ccn.1_Missense_Mutation_p.R486H|SEC31A_uc003hnk.2_Missense_Mutation_p.R486H|SEC31A_uc003hnm.2_Missense_Mutation_p.R486H|SEC31A_uc003hnn.1_Missense_Mutation_p.R486H|SEC31A_uc003hno.2_Missense_Mutation_p.R486H	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	486					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				GTATTTTCCACGAGAATCATC	0.308													T	83784523	C	T	83784523	3	4	144	1	0	0	0	0	1	0	0	0	13998	536	19	1	2269	1	SEC31A	4	83784523	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	9799993	83784523	107369753	80	80216											
FAT4	79633	broad.mit.edu	37	chr4	126336957	126336957	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacactacccagaacaattcTtcaggtcagtatatttaaat	5	9	3	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr4:126336957T>A	uc003ifj.3	+	5	6839	c.6839T>A	c.(6838-6840)CTT>CAT	p.L2280H	FAT4_uc011cgp.1_Missense_Mutation_p.L578H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2280	Extracellular (Potential).|Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AGAACAATTCTTCAGGTCAGT	0.358													A	126336957	T	A	126336957	3	1	144	1	0	0	0	0	1	0	0	0	5692	1609	56	5	6857	5	FAT4	4	126336957	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	42552434	126336957	64817319	81	80217											
LRAT	9227	broad.mit.edu	37	chr4	155665763	155665763	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagaaggtggtctccaacaaGcgtctcatcctgggcgttat	11	11	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr4:155665763G>C	uc003iom.1	+	1	612	c.285G>C	c.(283-285)AAG>AAC	p.K95N	uc003iol.2_Intron|LRAT_uc003ion.1_Missense_Mutation_p.K95N	NM_004744	NP_004735	O95237	LRAT_HUMAN	lecithin retinol acyltransferase	95	Cytoplasmic (By similarity).				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)	1	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TCTCCAACAAGCGTCTCATCC	0.577													C	155665763	G	C	155665763	3	2	144	1	0	0	0	0	1	0	0	0	8930	962	34	5	287	5	LRAT	4	155665763	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	29328806	155665763	35488513	82	80218											
CPE	1363	broad.mit.edu	37	chr4	166385547	166385547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctattaatcttttaggtgagCctgaatttaaatacattggg	8	5	1	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr4:166385547C>T	uc003irg.3	+	2	590	c.313C>T	c.(313-315)CCT>TCT	p.P105S		NM_001873	NP_001864	P16870	CBPE_HUMAN	carboxypeptidase E preproprotein	105					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTAGGTGAGCCTGAATTTAA	0.378											OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	166385547	C	T	166385547	3	4	144	1	0	0	0	0	1	0	0	0	3799	739	26	2	319	2	CPE	4	166385547	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	10719784	166385547	24768729	83	80219											
HAND2	9464	broad.mit.edu	37	chr4	174450016	174450016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatgtagctggtggccaggCgcagggtcttgattttggag	17	7	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr4:174450016C>T	uc003ith.1	-	1	1363	c.425G>A	c.(424-426)CGC>CAC	p.R142H	NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Silent_p.A107A|HAND2_uc010ire.1_Missense_Mutation_p.R142H	NM_021973	NP_068808	P61296	HAND2_HUMAN	basic helix-loop-helix transcription factor	142	Helix-loop-helix motif.				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			skin(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GGTGGCCAGGCGCAGGGTCTT	0.612													T	174450016	C	T	174450016	3	4	144	1	0	0	0	0	1	0	0	0	6950	768	27	1	236	1	HAND2	4	174450016	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	8064469	174450016	16704260	84	80220											
ZDHHC11	79844	broad.mit.edu	37	chr5	850567	850587	+	In_Frame_Del	DEL	CCACGAAGACAGCCCAGGTCA	CCACGAAGACAGCCCAGGTCA	-													gaaggtggccgaggaaaggcCcacgaagacagcccaggtca					rs147806046	by1000genomes	TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:850566_850586CCCACGAAGACAGCCCAGGTCA>C	uc011cma.1	-	0	516_536	c.132_152TGACCTGGGCTGTCTTCGTGGG>G	c.(130-153)gtgacctgggctgtcttcgtgggc>gtGc	p.TWAVFVG45del		NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Homo sapiens zinc finger, DHHC-type containing 11 (ZDHHC11), mRNA.	45						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CGAGGAAAGGCCCACGAAGACAGCCCAGGTCACCACCTGGA	0.552													-	850587	CCACGAAGACAGCCCAGGTCA	-	850567	7	5	144	1	0	1	0	1	0	0	0	0	17598	623	22	0	1135	0	ZDHHC11	5	850567	In_Frame_Del	DEL	CCACGAAGACAGCCCAGGTCA	TCGA-CD-8527-01A-11D-2340-08		850567	180064693	85	80221											
ZDHHC11	79844	broad.mit.edu	37	chr5	850680	850680	+	Frame_Shift_Del	DEL	G	G	-													cattattgagtatggcttctGgggtgacggaacactggctc							TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:850680delG	uc011cma.1	-	1	422	c.38delC	c.(37-39)CCAfs	p.P13fs	ZDHHC11_uc003jbj.2_5'Flank	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	13						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)|pancreas(1)	2			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TATGGCTTCTGGGGTGACGGA	0.627													-	850680	G	-	850680	7	5	144	1	0	1	0	1	0	0	0	0	17598	1348	47	0	1248	0	ZDHHC11	5	850680	Frame_Shift_Del	DEL	G	TCGA-CD-8527-01A-11D-2340-08	113	850680	180064580	86	80222											
LPCAT1	79888	broad.mit.edu	37	chr5	1466949	1466949	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccacccccagggccgtcttGaggatgcaggacaggtcacc	13	15	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:1466949G>A	uc003jcm.2	-	13	1452	c.1335C>T	c.(1333-1335)CTC>CTT	p.L445L	LPCAT1_uc003jcl.2_Silent_p.L19L	NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	445	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GGGCCGTCTTGAGGATGCAGG	0.622													A	1466949	G	A	1466949	2	1	144	1	0	0	0	0	0	0	0	1	8910	1277	45	4		4	LPCAT1	5	1466949	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	616269	1466949	179448311	87	80223											
IRX2	153572	broad.mit.edu	37	chr5	2748955	2748955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcggcgcctccaagccGgtaagcggcgacgaggtcac	15	14	1	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:2748955G>A	uc003jda.2	-	3	1109	c.867C>T	c.(865-867)ACC>ACT	p.T289T	IRX2_uc003jdb.2_Silent_p.T289T	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	289						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		CCTCCAAGCCGGTAAGCGGCG	0.552													A	2748955	G	A	2748955	2	1	144	1	0	0	0	0	0	0	0	1	7844	1103	39	1		1	IRX2	5	2748955	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	1282006	2748955	178166305	88	80224											
HMGCS1	3157	broad.mit.edu	37	chr5	43298855	43298855	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccataagattctgaaccacAgtcatgcaaagagagttaat	7	8	2	3			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:43298855A>G	uc003jnr.3	-	3	420	c.213T>C	c.(211-213)ACT>ACC	p.T71T	HMGCS1_uc003jnq.3_Silent_p.T71T	NM_001098272	NP_001091742	Q01581	HMCS1_HUMAN	hydroxymethylglutaryl-CoA synthase 1	71					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity				0						TCTGAACCACAGTCATGCAAA	0.428													G	43298855	A	G	43298855	2	3	144	1	0	0	0	0	0	0	0	1	7232	175	7	3		3	HMGCS1	5	43298855	Silent	SNP	A	TCGA-CD-8527-01A-11D-2340-08	40549900	43298855	137616405	89	80225											
CMYA5	202333	broad.mit.edu	37	chr5	79025857	79025857	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcatttgctaatgaggtaaaGaaggaagatgtgtattctgc	11	4	2	3			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:79025857G>T	uc003kgc.2	+	2	1341	c.1269G>T	c.(1267-1269)AAG>AAT	p.K423N		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	423						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATGAGGTAAAGAAGGAAGATG	0.478													T	79025857	G	T	79025857	3	4	144	1	0	0	0	0	1	0	0	0	3590	933	33	5	1275	5	CMYA5	5	79025857	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	35727002	79025857	101889403	90	80226											
EPB41L4A	64097	broad.mit.edu	37	chr5	111504783	111504783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaatgagaatgcctgatgcGgattgggtcaccttgtgtcc	13	9	1	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:111504783G>A	uc003kpv.1	-	21	2033	c.1759C>T	c.(1759-1761)CGC>TGC	p.R587C	EPB41L4A_uc003kpp.1_Missense_Mutation_p.R214C|EPB41L4A_uc003kpu.1_RNA	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	587						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TGCCTGATGCGGATTGGGTCA	0.473													A	111504783	G	A	111504783	3	1	144	1	0	0	0	0	1	0	0	0	5155	1116	39	1	313	1	EPB41L4A	5	111504783	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	32478926	111504783	69410477	91	80227											
SEMA6A	57556	broad.mit.edu	37	chr5	115783307	115783307	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcttggtgacgctgctcaTggagccccggcgcgagtggg	18	11	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:115783307T>C	uc010jck.2	-	19	2804	c.2095A>G	c.(2095-2097)ATG>GTG	p.M699V	SEMA6A_uc003krx.3_Missense_Mutation_p.M716V|SEMA6A_uc011cwe.1_Missense_Mutation_p.M78V|SEMA6A_uc003krv.3_Missense_Mutation_p.M126V|SEMA6A_uc003krw.3_Missense_Mutation_p.M176V|SEMA6A_uc010jcj.2_Missense_Mutation_p.M243V	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	699	Cytoplasmic (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ACGCTGCTCATGGAGCCCCGG	0.617													C	115783307	T	C	115783307	3	2	144	1	0	0	0	0	1	0	0	0	14039	1464	51	3	1001	3	SEMA6A	5	115783307	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	4278524	115783307	65131953	92	80228											
DMXL1	1657	broad.mit.edu	37	chr5	118580164	118580164	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtatttgacctttgtcaaCgacaacagaggcagcttttc	8	9	1	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:118580164C>T	uc003ksd.2	+	42	8933	c.8752C>T	c.(8752-8754)CGA>TGA	p.R2918*	DMXL1_uc010jcl.1_Nonsense_Mutation_p.R2939*|DMXL1_uc010jcm.1_RNA|DMXL1_uc003kse.1_Nonsense_Mutation_p.R92*	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2918	WD 14.									ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CCTTTGTCAACGACAACAGAG	0.433													T	118580164	C	T	118580164	4	4	144	1	0	0	0	0	0	1	0	0	4594	528	19	1	8918	1	DMXL1	5	118580164	Nonsense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	2796857	118580164	62335096	93	80229											
SLC12A2	6558	broad.mit.edu	37	chr5	127522312	127522312	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatcagagtgtccttaccTtctattcataaatgttctat	4	9	5	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:127522312T>G	uc003kus.2	+	27	3792	c.3628T>G	c.(3628-3630)TTC>GTC	p.F1210V	SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.F1194V	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	1210	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			ovary(3)	3		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGTCCTTACCTTCTATTCATA	0.423													G	127522312	T	G	127522312	3	3	144	1	0	0	0	0	1	0	0	0	14383	1609	56	5	3734	5	SLC12A2	5	127522312	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	8942148	127522312	53392948	94	80230											
VDAC1	7416	broad.mit.edu	37	chr5	133309533	133309533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcaggctggagttgttcaCtttagcctaatcaaggaaat	9	7	3	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:133309533C>T	uc003kyp.1	-	8	808	c.709G>A	c.(709-711)GTG>ATG	p.V237M	VDAC1_uc003kyq.1_Missense_Mutation_p.V237M|VDAC1_uc003kyr.1_Missense_Mutation_p.V237M	NM_003374	NP_003365	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	237	Beta stranded.				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	GAGTTGTTCACTTTAGCCTAA	0.358													T	133309533	C	T	133309533	3	4	144	1	0	0	0	0	1	0	0	0	17143	565	20	4	150	4	VDAC1	5	133309533	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	5787221	133309533	47605727	95	80231											
FAM13B	51306	broad.mit.edu	37	chr5	137278591	137278591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctcgagaacttgacaatCggagatccagagccagtttt	10	10	0	4	rs142996518	byFrequency	TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:137278591C>T	uc003lbz.2	-	21	3029	c.2495G>A	c.(2494-2496)CGA>CAA	p.R832Q	FAM13B_uc003lcb.2_Missense_Mutation_p.R708Q|FAM13B_uc003lca.2_Missense_Mutation_p.R804Q	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	hypothetical protein LOC51306 isoform 1	832					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						ACTTGACAATCGGAGATCCAG	0.328													T	137278591	C	T	137278591	3	4	144	1	0	0	0	0	1	0	0	0	5453	884	31	1	264	1	FAM13B	5	137278591	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	3969058	137278591	43636669	96	80232											
PCDHA3	56145	broad.mit.edu	37	chr5	140183159	140183159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagaaacaggatgtggacGttgatctctcagccaaagtg	13	7	2	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:140183159G>A	uc003lhf.2	+	1	2377	c.2377G>A	c.(2377-2379)GTT>ATT	p.V793I	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.V793I	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	793	Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGTGGACGTTGATCTCTC	0.428													A	140183159	G	A	140183159	3	1	144	1	0	0	0	0	1	0	0	0	11525	1145	40	1	2379	1	PCDHA3	5	140183159	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	2904568	140183159	40732101	97	80233											
PCDHB11	56125	broad.mit.edu	37	chr5	140581715	140581715	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaagaaaactccacctttCgaaatagctttggatttaat	7	7	0	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:140581715C>T	uc003liy.2	+	1	2368	c.2368C>T	c.(2368-2370)CGA>TGA	p.R790*	PCDHB11_uc011daj.1_Nonsense_Mutation_p.R425*	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	790	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCACCTTTCGAAATAGCTT	0.323													T	140581715	C	T	140581715	4	4	144	1	0	0	0	0	0	1	0	0	11536	876	31	1	2370	1	PCDHB11	5	140581715	Nonsense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	398556	140581715	40333545	98	80234											
PCDHGA11	56105	broad.mit.edu	37	chr5	140802438	140802438	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctcagcagcaacgtgtcGctgagcctgttcgtgctgga	12	14	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:140802438G>A	uc003lkq.1	+	1	1902	c.1644G>A	c.(1642-1644)TCG>TCA	p.S548S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Silent_p.S548S|PCDHGA11_uc003lkp.1_Silent_p.S548S	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	548	Extracellular (Potential).|Cadherin 5.				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)			GCAACGTGTCGCTGAGCCTGT	0.607													A	140802438	G	A	140802438	2	1	144	1	0	0	0	0	0	0	0	1	11552	1074	38	1		1	PCDHGA11	5	140802438	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	220723	140802438	40112822	99	80235											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812049	140812049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacggacggttccactggcGtggagctggctccccgctcc	13	17	0	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:140812049G>A	uc003lkt.1	+	1	1892	c.1723G>A	c.(1723-1725)GTG>ATG	p.V575M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.V575M	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	575	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCACTGGCGTGGAGCTGGC	0.662													A	140812049	G	A	140812049	3	1	144	1	0	0	0	0	1	0	0	0	11553	1145	40	1	1725	1	PCDHGA12	5	140812049	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	9611	140812049	40103211	100	80236											
TBC1D9B	23061	broad.mit.edu	37	chr5	179297278	179297278	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccctgtcacgaactccttgAagttgatcagcgagtccttg	9	12	2	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:179297278A>T	uc003mlh.2	-	16	2739	c.2702T>A	c.(2701-2703)TTC>TAC	p.F901Y	TBC1D9B_uc003mli.2_Missense_Mutation_p.F901Y|TBC1D9B_uc003mlj.2_Missense_Mutation_p.F901Y|TBC1D9B_uc003mlg.2_Missense_Mutation_p.F77Y|TBC1D9B_uc011dgv.1_Missense_Mutation_p.F77Y|TBC1D9B_uc011dgw.1_Missense_Mutation_p.F77Y|TBC1D9B_uc003mlk.1_Missense_Mutation_p.F59Y	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	901	EF-hand.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAACTCCTTGAAGTTGATCAG	0.597													T	179297278	A	T	179297278	3	4	144	1	0	0	0	0	1	0	0	0	15625	246	9	5	1078	5	TBC1D9B	5	179297278	Missense_Mutation	SNP	A	TCGA-CD-8527-01A-11D-2340-08	38485229	179297278	1617982	101	80237											
SCGN	10590	broad.mit.edu	37	chr6	25665223	25665223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcttctgctctttcgccGggaaaacccactggacagca	8	14	3	0	rs151030217		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:25665223G>A	uc003nfb.2	+	4	502	c.299G>A	c.(298-300)CGG>CAG	p.R100Q	SCGN_uc010jpz.2_Missense_Mutation_p.G10R	NM_006998	NP_008929	O76038	SEGN_HUMAN	secretagogin precursor	100						extracellular region|transport vesicle membrane	calcium ion binding			ovary(2)|pancreas(1)	3						CTCTTTCGCCGGGAAAACCCA	0.483													A	25665223	G	A	25665223	3	1	144	1	0	0	0	0	1	0	0	0	13903	1116	39	1	313	1	SCGN	6	25665223	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08		25665223	145449844	102	80238											
HIST1H2BF	8343	broad.mit.edu	37	chr6	26199793	26199793	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtgtttatttatcatgcctGaacctgctaagtccgctcct	7	11	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:26199793G>A	uc003ngx.2	+	1	7	c.7G>A	c.(7-9)GAA>AAA	p.E3K	HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank	NM_003522	NP_003513	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	3					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0		all_hematologic(11;0.196)				TATCATGCCTGAACCTGCTAA	0.488													A	26199793	G	A	26199793	3	1	144	1	0	0	0	0	1	0	0	0	7145	1291	45	4	9	4	HIST1H2BF	6	26199793	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	534570	26199793	144915274	103	80239											
BTN2A2	10385	broad.mit.edu	37	chr6	26392925	26392925	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgggccctgtcctcccctgaGaggattctccctttgaagga	11	14	1	2	rs139419531		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:26392925G>T	uc003nhq.2	+	8	1388	c.1302G>T	c.(1300-1302)GAG>GAT	p.E434D	BTN2A2_uc011dkg.1_3'UTR|BTN2A2_uc003nhr.2_Missense_Mutation_p.E318D|BTN2A2_uc011dkh.1_Missense_Mutation_p.E224D|BTN2A2_uc003nhs.2_Intron|BTN2A2_uc003nht.2_Missense_Mutation_p.E434D|BTN2A2_uc011dki.1_3'UTR	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	434	B30.2/SPRY.|Cytoplasmic (Potential).				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						CCTCCCCTGAGAGGATTCTCC	0.542													T	26392925	G	T	26392925	3	4	144	1	0	0	0	0	1	0	0	0	1561	933	33	5	1328	5	BTN2A2	6	26392925	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	193132	26392925	144722142	104	80240											
GABBR1	2550	broad.mit.edu	37	chr6	29591187	29591187	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtgtggctgatgggtgCgttcggaagaaagtggggaa	20	3	0	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:29591187C>T	uc003nmt.3	-	8	1194	c.858G>A	c.(856-858)ACG>ACA	p.T286T	GABBR1_uc003nmp.3_Silent_p.T169T|GABBR1_uc003nms.3_Silent_p.T169T|GABBR1_uc003nmu.3_Silent_p.T224T|GABBR1_uc011dlr.1_Silent_p.T109T|GABBR1_uc011dls.1_Silent_p.T286T	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	286	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	CTGATGGGTGCGTTCGGAAGA	0.562													T	29591187	C	T	29591187	2	4	144	1	0	0	0	0	0	0	0	1	6155	755	27	1		1	GABBR1	6	29591187	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	3198262	29591187	141523880	105	80241											
GTF2H4	2968	broad.mit.edu	37	chr6	30878477	30878477	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgatgacacaagtcagctggGaccagacaagcatgcccggg	13	11	1	3			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:30878477G>T	uc003nsa.1	+	5	617	c.410G>T	c.(409-411)GGA>GTA	p.G137V	GTF2H4_uc010jsf.2_Missense_Mutation_p.G137V|GTF2H4_uc011dmv.1_Missense_Mutation_p.G81V|GTF2H4_uc003nsb.1_5'UTR|GTF2H4_uc011dmw.1_Missense_Mutation_p.G143V	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4,	137					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3						AGTCAGCTGGGACCAGACAAG	0.498								NER					T	30878477	G	T	30878477	3	4	144	1	0	0	0	0	1	0	0	0	6865	1174	41	5	424	5	GTF2H4	6	30878477	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	1287290	30878477	140236590	106	80242											
VARS2	57176	broad.mit.edu	37	chr6	30886684	30886684	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgttcatccagacgactcgCgatacacagtaatacccagt	7	14	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:30886684C>T	uc003nsc.1	+	10	1698	c.1066C>T	c.(1066-1068)CGA>TGA	p.R356*	VARS2_uc011dmx.1_Nonsense_Mutation_p.R356*|VARS2_uc011dmy.1_Nonsense_Mutation_p.R216*|VARS2_uc011dmz.1_Nonsense_Mutation_p.R386*|VARS2_uc011dna.1_Nonsense_Mutation_p.R356*|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'UTR|VARS2_uc010jsg.1_5'Flank	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	356					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						AGACGACTCGCGATACACAGT	0.527													T	30886684	C	T	30886684	4	4	144	1	0	0	0	0	0	1	0	0	17121	760	27	1	1198	1	VARS2	6	30886684	Nonsense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	8207	30886684	140228383	107	80243											
GRM4	2914	broad.mit.edu	37	chr6	34101106	34101106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgagccccggccatgcacCgggaacaggcctcccagtgt	12	16	1	1	rs140904979	byFrequency	TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:34101106C>T	uc003oir.3	-	1	338	c.168G>A	c.(166-168)CCG>CCA	p.P56P	GRM4_uc011dsn.1_Silent_p.P56P|GRM4_uc010jvh.2_Silent_p.P56P|GRM4_uc010jvi.2_5'UTR|GRM4_uc010jvk.1_5'UTR	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	56	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	GGCCATGCACCGGGAACAGGC	0.607													T	34101106	C	T	34101106	2	4	144	1	0	0	0	0	0	0	0	1	6799	639	23	1		1	GRM4	6	34101106	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	3214422	34101106	137013961	108	80244											
MAPK13	5603	broad.mit.edu	37	chr6	36104269	36104269	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccccccaggacctgaaGccaggcaacctggctgtgaa	10	16	0	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:36104269G>A	uc003ols.2	+	6	554	c.456G>A	c.(454-456)AAG>AAA	p.K152K	MAPK13_uc003olt.2_RNA	NM_002754	NP_002745	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	152	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)	3						AGGACCTGAAGCCAGGCAACC	0.383													A	36104269	G	A	36104269	2	1	144	1	0	0	0	0	0	0	0	1	9275	962	34	2		2	MAPK13	6	36104269	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	2003163	36104269	135010798	109	80245											
ZNF318	24149	broad.mit.edu	37	chr6	43322584	43322584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgaagattgggacggctacGagtagcttgtttggttattg	14	5	0	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:43322584G>A	uc003oux.2	-	4	2566	c.2488C>T	c.(2488-2490)CGT>TGT	p.R830C	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	830					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGACGGCTACGAGTAGCTTGT	0.522													A	43322584	G	A	43322584	3	1	144	1	0	0	0	0	1	0	0	0	17833	1058	37	1	4379	1	ZNF318	6	43322584	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	7218315	43322584	127792483	110	80246											
FILIP1	27145	broad.mit.edu	37	chr6	76124567	76124569	+	In_Frame_Del	DEL	TTC	TTC	-													catcctccttcctatttgatTtcttcttcttttttgcatct							TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:76124566_76124568TTTC>T	uc010kbe.3	-	2	660_662	c.130_132GAAA>A	c.(130-132)aaa>A	p.K44del	FILIP1_uc003phy.1_In_Frame_Del_p.K41del|FILIP1_uc003pia.3_In_Frame_Del_p.K41del	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	41										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCCTATTTGATTTCTTCTTCTTT	0.433													-	76124569	TTC	-	76124567	7	5	144	1	0	1	0	1	0	0	0	0	5894	1841	64	0	3539	0	FILIP1	6	76124567	In_Frame_Del	DEL	TTC	TCGA-CD-8527-01A-11D-2340-08	32801983	76124567	94990500	111	80247											
PHIP	55023	broad.mit.edu	37	chr6	79711671	79711671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccctgcaattttcacgGccaggaactaatctttgata	6	12	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:79711671G>A	uc003pir.2	-	17	2050	c.1824C>T	c.(1822-1824)GGC>GGT	p.G608G	PHIP_uc011dyp.1_Silent_p.G608G	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	608					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AATTTTCACGGCCAGGAACTA	0.443													A	79711671	G	A	79711671	2	1	144	1	0	0	0	0	0	0	0	1	11842	1190	42	2		2	PHIP	6	79711671	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	3587104	79711671	91403396	112	80248											
TBX18	9096	broad.mit.edu	37	chr6	85446530	85446530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagggggcaacatctgcCgatccgtcatggtcccactc	10	16	2	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:85446530C>T	uc003pkl.1	-	8	1697	c.1697G>A	c.(1696-1698)CGG>CAG	p.R566Q	TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	566					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CAACATCTGCCGATCCGTCAT	0.527													T	85446530	C	T	85446530	3	4	144	1	0	0	0	0	1	0	0	0	15650	652	23	1	130	1	TBX18	6	85446530	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	5734859	85446530	85668537	113	80249											
HTR1E	3354	broad.mit.edu	37	chr6	87725488	87725488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgctgatgatccttaccGtctggaccatctccattttc	7	15	2	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:87725488G>A	uc003pli.2	+	2	1139	c.436G>A	c.(436-438)GTC>ATC	p.V146I		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	146	Helical; Name=4; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)|skin(1)	3		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GATCCTTACCGTCTGGACCAT	0.582													A	87725488	G	A	87725488	3	1	144	1	0	0	0	0	1	0	0	0	7439	1145	40	1	438	1	HTR1E	6	87725488	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	2278958	87725488	83389579	114	80250											
LAMA2	3908	broad.mit.edu	37	chr6	129513974	129513974	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagctactactggagcgcGccggctccctatctgggaaa	11	14	1	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:129513974G>A	uc003qbn.2	+	12	1863	c.1758G>A	c.(1756-1758)GCG>GCA	p.A586A	LAMA2_uc003qbo.2_Silent_p.A586A	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	586	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACTGGAGCGCGCCGGCTCCCT	0.547													A	129513974	G	A	129513974	2	1	144	1	0	0	0	0	0	0	0	1	8606	1074	38	1		1	LAMA2	6	129513974	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	41788486	129513974	41601093	115	80251											
EPB41L2	2037	broad.mit.edu	37	chr6	131190857	131190857	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggtatcttttgggcacctAcattttcctggatcactgtt	9	10	2	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:131190857A>G	uc003qch.2	-	15	2635	c.2453T>C	c.(2452-2454)GTA>GCA	p.V818A	EPB41L2_uc003qce.1_Missense_Mutation_p.V196A|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_Missense_Mutation_p.V215A	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	818					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTGGGCACCTACATTTTCCTG	0.512													G	131190857	A	G	131190857	3	3	144	1	0	0	0	0	1	0	0	0	5153	391	14	3	584	3	EPB41L2	6	131190857	Missense_Mutation	SNP	A	TCGA-CD-8527-01A-11D-2340-08	1676883	131190857	39924210	116	80252											
SYNE1	23345	broad.mit.edu	37	chr6	152671429	152671429	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagctcactgttgtagtcTtcatggtctttgactttcgc	10	9	4	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:152671429T>G	uc010kiw.2	-	72	12377	c.11775A>C	c.(11773-11775)GAA>GAC	p.E3925D	SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Missense_Mutation_p.E3925D|SYNE1_uc010kja.1_Missense_Mutation_p.E630D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3925	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)		TGTTGTAGTCTTCATGGTCTT	0.498										HNSCC(10;0.0054)			G	152671429	T	G	152671429	3	3	144	1	0	0	0	0	1	0	0	0	15442	1606	56	5	14991	5	SYNE1	6	152671429	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	21480572	152671429	18443638	117	80253											
MYCT1	80177	broad.mit.edu	37	chr6	153019200	153019200	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatggctaataacacaacaAgtttagggagtccatggcca	9	8	0	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:153019200A>C	uc003qpd.3	+	1	171	c.163A>C	c.(163-165)AGT>CGT	p.S55R	MYCT1_uc010kjc.1_Missense_Mutation_p.S55R|MYCT1_uc003qpc.3_Missense_Mutation_p.S55R	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	myc target 1	55						nucleus				ovary(1)	1		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TAACACAACAAGTTTAGGGAG	0.313													C	153019200	A	C	153019200	3	2	144	1	0	0	0	0	1	0	0	0	10022	72	3	5	165	5	MYCT1	6	153019200	Missense_Mutation	SNP	A	TCGA-CD-8527-01A-11D-2340-08	347771	153019200	18095867	118	80254											
DLL1	28514	broad.mit.edu	37	chr6	170597377	170597377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgcacactttctccccaCgctccccacaggtgaagtgg	10	15	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:170597377C>T	uc003qxm.2	-	4	1090	c.620G>A	c.(619-621)CGT>CAT	p.R207H	DLL1_uc011ehc.1_Missense_Mutation_p.R207H	NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	207	Extracellular (Potential).|DSL.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TTTCTCCCCACGCTCCCCACA	0.622													T	170597377	C	T	170597377	3	4	144	1	0	0	0	0	1	0	0	0	4566	536	19	1	1583	1	DLL1	6	170597377	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	17578177	170597377	517690	119	80255											
TMEM195	392636	broad.mit.edu	37	chr7	15405188	15405188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggcttcaggtgaccaaatCggtacagcattaagaacatc	10	9	1	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:15405188C>T	uc003stb.1	-	12	1384	c.1214G>A	c.(1213-1215)CGA>CAA	p.R405Q		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	405					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0						GTGACCAAATCGGTACAGCAT	0.408													T	15405188	C	T	15405188	3	4	144	1	0	0	0	0	1	0	0	0	16114	884	31	1	131	1	TMEM195	7	15405188	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08		15405188	143733475	120	80256											
ABCB5	340273	broad.mit.edu	37	chr7	20793081	20793081	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctccaaaaacccaaaatTttattgttggatgaggccac	6	10	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:20793081T>G	uc003suw.3	+	18	2739	c.2193T>G	c.(2191-2193)ATT>ATG	p.I731M	ABCB5_uc010kuh.2_Missense_Mutation_p.I1176M	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	731	Cytoplasmic (Potential).|ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						AACCCAAAATTTTATTGTTGG	0.393													G	20793081	T	G	20793081	3	3	144	1	0	0	0	0	1	0	0	0	44	1829	64	5	3671	5	ABCB5	7	20793081	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	5387893	20793081	138345582	121	80257											
LANCL2	55915	broad.mit.edu	37	chr7	55493072	55493072	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaacggctattccttcctGtccctttaccgtctcacgca	7	16	1	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:55493072G>T	uc003tqp.2	+	7	1712	c.1134G>T	c.(1132-1134)CTG>CTT	p.L378L		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	378					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			ovary(1)|skin(1)	2	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			ATTCCTTCCTGTCCCTTTACC	0.552													T	55493072	G	T	55493072	2	4	144	1	0	0	0	0	0	0	0	1	8621	1364	48	5		5	LANCL2	7	55493072	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	34699991	55493072	103645591	122	80258											
AUTS2	26053	broad.mit.edu	37	chr7	70231287	70231287	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcccccacgccatcccaccCaccgccatcatgccgacgcc	5	24	1	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:70231287C>A	uc003tvw.3	+	9	2399	c.1656C>A	c.(1654-1656)CCC>CCA	p.P552P	AUTS2_uc003tvx.3_Silent_p.P552P|AUTS2_uc011keg.1_5'UTR	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	552										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCATCCCACCCACCGCCATCA	0.448													A	70231287	C	A	70231287	2	1	144	1	0	0	0	0	0	0	0	1	1225	581	21	5		5	AUTS2	7	70231287	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	14738215	70231287	88907376	123	80259											
AUTS2	26053	broad.mit.edu	37	chr7	70254894	70254894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagagggagagagaccacTcggaatcccgcaaggacctg	14	10	0	3			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:70254894T>C	uc003tvw.3	+	19	3435	c.2692T>C	c.(2692-2694)TCG>CCG	p.S898P	AUTS2_uc003tvx.3_Missense_Mutation_p.S874P|AUTS2_uc011keg.1_Missense_Mutation_p.S350P	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	898										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GAGAGACCACTCGGAATCCCG	0.657													C	70254894	T	C	70254894	3	2	144	1	0	0	0	0	1	0	0	0	1225	1551	54	3	2911	3	AUTS2	7	70254894	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	23607	70254894	88883769	124	80260											
ABCB4	5244	broad.mit.edu	37	chr7	87069090	87069090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccagggcacgtgcaatggCgatcctctgcttctgcccac	10	15	2	0	rs140631210		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:87069090C>T	uc003uiv.1	-	14	1700	c.1624G>A	c.(1624-1626)GCC>ACC	p.A542T	ABCB4_uc003uiw.1_Missense_Mutation_p.A542T|ABCB4_uc003uix.1_Missense_Mutation_p.A542T	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	542	ABC transporter 1.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CGTGCAATGGCGATCCTCTGC	0.532													T	87069090	C	T	87069090	3	4	144	1	0	0	0	0	1	0	0	0	43	768	27	1	2296	1	ABCB4	7	87069090	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	16814196	87069090	72069573	125	80261											
CYP3A4	1576	broad.mit.edu	37	chr7	99377613	99377613	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtgagctcaaaaacactcAccttatggtaggacaaaata	8	8	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:99377613A>G	uc003urv.1	-	2	269	c.165_splice	c.e2+1	p.K55_splice	CYP3A4_uc003urw.1_Splice_Site_p.K55_splice|CYP3A4_uc011kiz.1_Splice_Site_p.K55_splice|CYP3A4_uc011kja.1_Intron|CYP3A4_uc011kjb.1_Intron	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A,						alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			central_nervous_system(3)|ovary(1)	4	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	AAAAACACTCACCTTATGGTA	0.418													G	99377613	A	G	99377613	5	3	144	1	0	0	0	0	0	0	1	0	4178	173	6	3	1392	3	CYP3A4	7	99377613	Splice_Site	SNP	A	TCGA-CD-8527-01A-11D-2340-08	12308523	99377613	59761050	126	80262											
AZGP1	563	broad.mit.edu	37	chr7	99565777	99565777	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcaggaagcagtgagtaCcttgccggtccaggatattt	14	8	0	1	rs112067579		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:99565777C>T	uc003ush.2	-	3	657	c.613_splice	c.e3+1	p.D205_splice		NM_001185	NP_001176	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc						antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GCAGTGAGTACCTTGCCGGTC	0.542													T	99565777	C	T	99565777	5	4	144	1	0	0	0	0	0	0	1	0	1239	521	18	4	290	4	AZGP1	7	99565777	Splice_Site	SNP	C	TCGA-CD-8527-01A-11D-2340-08	188164	99565777	59572886	127	80263											
AP4M1	9179	broad.mit.edu	37	chr7	99700524	99700524	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgattactgtggctccctgGgcgaggggaccatctcccgc	14	14	1	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:99700524G>T	uc003utb.3	+	4	500	c.292G>T	c.(292-294)GGC>TGC	p.G98C	MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Missense_Mutation_p.G98C|AP4M1_uc010lgl.1_Missense_Mutation_p.G98C|AP4M1_uc003utc.3_Missense_Mutation_p.G105C|AP4M1_uc010lgm.2_Intron|AP4M1_uc003utd.2_Missense_Mutation_p.G98C|AP4M1_uc011kjh.1_Missense_Mutation_p.G50C|AP4M1_uc003ute.3_5'UTR|AP4M1_uc003utf.3_5'UTR	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	98					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGCTCCCTGGGCGAGGGGAC	0.562													T	99700524	G	T	99700524	3	4	144	1	0	0	0	0	1	0	0	0	753	1232	43	5	306	5	AP4M1	7	99700524	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	134747	99700524	59438139	128	80264											
C7orf51	222950	broad.mit.edu	37	chr7	100086295	100086295	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agggacgggacgcccaccaaGaccactccttgtgaaatccc	10	15	0	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:100086295G>C	uc003uvd.1	+	4	1110	c.951G>C	c.(949-951)AAG>AAC	p.K317N	C7orf51_uc003uve.1_Missense_Mutation_p.K99N	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	317	Pro-rich.									skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGCCCACCAAGACCACTCCTT	0.687													C	100086295	G	C	100086295	3	2	144	1	0	0	0	0	1	0	0	0	2400	933	33	5	961	5	C7orf51	7	100086295	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	385771	100086295	59052368	129	80265											
CUX1	1523	broad.mit.edu	37	chr7	101844897	101844897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccgcagctcctgaggccGgtgcctctgctctgccgaac	11	18	2	1	rs141755950		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:101844897G>A	uc003uyx.3	+	18	2358	c.2320G>A	c.(2320-2322)GGT>AGT	p.G774S	CUX1_uc003uys.3_Missense_Mutation_p.G785S|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	774					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						TCCTGAGGCCGGTGCCTCTGC	0.682													A	101844897	G	A	101844897	3	1	144	1	0	0	0	0	1	0	0	0	4064	1116	39	1	2457	1	CUX1	7	101844897	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	1758602	101844897	57293766	130	80266											
SLC26A4	5172	broad.mit.edu	37	chr7	107350529	107350529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaagctggagcaatgcgGgttctttgacgacaacatta	11	7	1	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:107350529G>A	uc003vep.2	+	19	2344	c.2120G>A	c.(2119-2121)GGG>GAG	p.G707E	SLC26A4_uc011kmb.1_Missense_Mutation_p.G294E|SLC26A4_uc011kmc.1_Missense_Mutation_p.G268E|SLC26A4_uc011kmd.1_Missense_Mutation_p.G276E	NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	707	STAS.|Cytoplasmic (Potential).				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)	7						GAGCAATGCGGGTTCTTTGAC	0.333									Pendred_syndrome				A	107350529	G	A	107350529	3	1	144	1	0	0	0	0	1	0	0	0	14519	1232	43	4	2190	4	SLC26A4	7	107350529	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	5505632	107350529	51788134	131	80267											
TMEM168	64418	broad.mit.edu	37	chr7	112424808	112424811	+	Frame_Shift_Del	DEL	TATT	TATT	-													agaatgcatgttcacttctcTatttacttcttccagtcttg							TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:112424808_112424811delTATT	uc003vgn.2	-	2	462_465	c.70_73delAATA	c.(70-75)AATAGAfs	p.N24fs	TMEM168_uc010lju.2_Frame_Shift_Del_p.N24fs|TMEM168_uc011kmr.1_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	transmembrane protein 168	24_25						integral to membrane|transport vesicle				ovary(1)|central_nervous_system(1)	2						TTCACTTCTCTATTTACTTCTTCC	0.382													-	112424811	TATT	-	112424808	7	5	144	1	0	1	0	1	0	0	0	0	16080	1530	53	0	2036	0	TMEM168	7	112424808	Frame_Shift_Del	DEL	TATT	TCGA-CD-8527-01A-11D-2340-08	5074279	112424808	46713855	132	80268											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138453530	138453530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtggagaacttacctccaGggtaatcatttcccgtggga	11	9	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:138453530G>T	uc003vuf.2	-	4	524	c.286C>A	c.(286-288)CTG>ATG	p.L96M	ATP6V0A4_uc003vug.2_Missense_Mutation_p.L96M|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.L96M	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	96	Cytoplasmic (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1						CTTACCTCCAGGGTAATCATT	0.512													T	138453530	G	T	138453530	3	4	144	1	0	0	0	0	1	0	0	0	1170	991	35	5	2308	5	ATP6V0A4	7	138453530	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	26028722	138453530	20685133	133	80269											
OR2F1	26211	broad.mit.edu	37	chr7	143657472	143657472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgatactcggccatcatgCatggagggctgtgtgctagg	15	9	1	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:143657472C>T	uc003wds.1	+	1	453	c.409C>T	c.(409-411)CAT>TAT	p.H137Y		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F,	137	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	Melanoma(164;0.0903)					GGCCATCATGCATGGAGGGCT	0.572													T	143657472	C	T	143657472	3	4	144	1	0	0	0	0	1	0	0	0	10996	710	25	2	411	2	OR2F1	7	143657472	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	5203942	143657472	15481191	134	80270											
ZNF398	57541	broad.mit.edu	37	chr7	148851197	148851197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtggagatccacagccGgcgactcctacacctggaag	13	12	0	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:148851197G>A	uc003wfl.2	+	2	460	c.185G>A	c.(184-186)CGG>CAG	p.R62Q	ZNF398_uc011kul.1_5'UTR|ZNF398_uc011kum.1_Missense_Mutation_p.R67Q	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	zinc finger 398 isoform a	62					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			ATCCACAGCCGGCGACTCCTA	0.577													A	148851197	G	A	148851197	3	1	144	1	0	0	0	0	1	0	0	0	17882	1116	39	1	191	1	ZNF398	7	148851197	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	5193725	148851197	10287466	135	80271											
SSPO	23145	broad.mit.edu	37	chr7	149486358	149486358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgactgtggagatggcaCggatgagccgagctatccgt	16	8	0	3			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:149486358C>T	uc010lpk.2	+	30	4334	c.4334C>T	c.(4333-4335)ACG>ATG	p.T1445M		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1445	LDL-receptor class A 2.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAGATGGCACGGATGAGCCG	0.692													T	149486358	C	T	149486358	3	4	144	1	0	0	0	0	1	0	0	0	15188	536	19	1	4448	1	SSPO	7	149486358	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	635161	149486358	9652305	136	80272											
RARRES2	5919	broad.mit.edu	37	chr7	150036113	150036113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatggggcagtggaccaaccGgcccagaactttgtcctcag	12	12	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:150036113G>A	uc003wha.2	-	4	454	c.337C>T	c.(337-339)CGG>TGG	p.R113W	RARRES2_uc010lpp.1_Missense_Mutation_p.R113W	NM_002889	NP_002880	Q99969	RARR2_HUMAN	chemerin preproprotein	113					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TGGACCAACCGGCCCAGAACT	0.597													A	150036113	G	A	150036113	3	1	144	1	0	0	0	0	1	0	0	0	13056	1115	39	1	162	1	RARRES2	7	150036113	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	549755	150036113	9102550	137	80273											
CSMD1	64478	broad.mit.edu	37	chr8	2964055	2964055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaacagtgcataccttcaCatgttgggagagaaccctca	9	11	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:2964055C>T	uc011kwk.1	-	46	7337	c.6947G>A	c.(6946-6948)TGT>TAT	p.C2316Y	CSMD1_uc011kwj.1_Missense_Mutation_p.C1708Y|CSMD1_uc010lrg.2_Missense_Mutation_p.C384Y	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2316	Extracellular (Potential).|Sushi 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATACCTTCACATGTTGGGAG	0.433													T	2964055	C	T	2964055	3	4	144	1	0	0	0	0	1	0	0	0	3944	478	17	4	3850	4	CSMD1	8	2964055	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08		2964055	143399967	138	80274											
CSMD1	64478	broad.mit.edu	37	chr8	2976048	2976048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattgccccacgctgtaatcCgagttgatcatgtacccatt	8	12	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:2976048C>T	uc011kwk.1	-	42	6696	c.6306G>A	c.(6304-6306)TCG>TCA	p.S2102S	CSMD1_uc011kwj.1_Silent_p.S1494S|CSMD1_uc010lrg.2_Silent_p.S170S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2102	Extracellular (Potential).|Sushi 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGCTGTAATCCGAGTTGATCA	0.418													T	2976048	C	T	2976048	2	4	144	1	0	0	0	0	0	0	0	1	3944	639	23	1		1	CSMD1	8	2976048	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	11993	2976048	143387974	139	80275											
CSMD1	64478	broad.mit.edu	37	chr8	3087592	3087592	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagggtctggttgccaaaAgaaccggttattcagctgca	13	8	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:3087592A>C	uc011kwk.1	-	27	4708	c.4318T>G	c.(4318-4320)TTT>GTT	p.F1440V	CSMD1_uc011kwj.1_Missense_Mutation_p.F832V|CSMD1_uc003wqe.2_Missense_Mutation_p.F596V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1440	Extracellular (Potential).|Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGTTGCCAAAAGAACCGGTTA	0.473													C	3087592	A	C	3087592	3	2	144	1	0	0	0	0	1	0	0	0	3944	72	3	5	6555	5	CSMD1	8	3087592	Missense_Mutation	SNP	A	TCGA-CD-8527-01A-11D-2340-08	111544	3087592	143276430	140	80276											
DCTN6	10671	broad.mit.edu	37	chr8	30038094	30038094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagtcatccctgagaataCggtgatctatggtgcagact	11	8	2	4			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:30038094C>T	uc003xhy.2	+	6	509	c.422C>T	c.(421-423)ACG>ATG	p.T141M		NM_006571	NP_006562	O00399	DCTN6_HUMAN	dynactin 6	141						centrosome	transferase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		CCTGAGAATACGGTGATCTAT	0.438													T	30038094	C	T	30038094	3	4	144	1	0	0	0	0	1	0	0	0	4311	536	19	1	444	1	DCTN6	8	30038094	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	26950502	30038094	116325928	141	80277											
C8orf41	80185	broad.mit.edu	37	chr8	33369638	33369638	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caacttcccgagatctcggaGtggtccatggttgctccaag	11	12	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:33369638G>T	uc003xjl.3	-	1	1019	c.494C>A	c.(493-495)ACT>AAT	p.T165N	C8orf41_uc003xjk.3_Missense_Mutation_p.T165N|C8orf41_uc010lvv.2_Missense_Mutation_p.T165N|C8orf41_uc003xjm.3_Missense_Mutation_p.T165N|C8orf41_uc003xjn.1_Missense_Mutation_p.T165N	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	hypothetical protein LOC80185	165							binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		AGATCTCGGAGTGGTCCATGG	0.522													T	33369638	G	T	33369638	3	4	144	1	0	0	0	0	1	0	0	0	2427	1029	36	5	1060	5	C8orf41	8	33369638	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	3331544	33369638	112994384	142	80278											
CYP7A1	1581	broad.mit.edu	37	chr8	59410926	59410926	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtaaaaacatgaccatgtttCctttgatttgctctgaggaa	8	7	1	3			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:59410926C>A	uc003xtm.3	-	2	246	c.183G>T	c.(181-183)AGG>AGT	p.R61S		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	61					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GACCATGTTTCCTTTGATTTG	0.413									Neonatal_Giant_Cell_Hepatitis				A	59410926	C	A	59410926	3	1	144	1	0	0	0	0	1	0	0	0	4196	854	30	5	1351	5	CYP7A1	8	59410926	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	26041288	59410926	86953096	143	80279											
CSPP1	79848	broad.mit.edu	37	chr8	67988734	67988734	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggaaagttgtcagcgaaGctttctgaaaacagtaagat	11	6	2	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:67988734G>A	uc003xxi.2	+	3	256	c.225G>A	c.(223-225)AAG>AAA	p.K75K	CSPP1_uc003xxg.1_Silent_p.K75K|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Silent_p.K75K	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	75						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGTCAGCGAAGCTTTCTGAAA	0.348													A	67988734	G	A	67988734	2	1	144	1	0	0	0	0	0	0	0	1	3962	962	34	2		2	CSPP1	8	67988734	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	8577808	67988734	78375288	144	80280											
JPH1	56704	broad.mit.edu	37	chr8	75157411	75157411	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttgacgtaatcagggcCtggccaaaaaaaaaagaaaa	9	7	1	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:75157411C>T	uc003yae.2	-	4	1299	c.1259_splice	c.e4-1	p.G420_splice	JPH1_uc003yaf.2_Splice_Site_p.G420_splice|JPH1_uc003yag.1_Splice_Site_p.G284_splice	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1						calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TAATCAGGGCCTGGCCaaaaa	0.313													T	75157411	C	T	75157411	5	4	144	1	0	0	0	0	0	0	1	0	7960	695	24	4	735	4	JPH1	8	75157411	Splice_Site	SNP	C	TCGA-CD-8527-01A-11D-2340-08	7168677	75157411	71206611	145	80281											
TRPS1	7227	broad.mit.edu	37	chr8	116427261	116427261	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgctttcttgttctcctccTaataatctgctcaccgttgt	6	13	4	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:116427261T>C	uc003ynz.2	-	6	3295	c.2836A>G	c.(2836-2838)AGG>GGG	p.R946G	TRPS1_uc011lhy.1_Missense_Mutation_p.R950G|TRPS1_uc003yny.2_Missense_Mutation_p.R959G|TRPS1_uc010mcy.2_Missense_Mutation_p.R946G	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	946					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GTTCTCCTCCTAATAATCTGC	0.433									Langer-Giedion_syndrome				C	116427261	T	C	116427261	3	2	144	1	0	0	0	0	1	0	0	0	16590	1521	53	3	1013	3	TRPS1	8	116427261	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	41269850	116427261	29936761	146	80282											
WISP1	8840	broad.mit.edu	37	chr8	134232990	134232990	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgcccccacccgcggcgCgtgagcatacctggccactg	13	17	0	1	rs150221105	byFrequency	TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:134232990C>T	uc003yub.2	+	3	592	c.516C>T	c.(514-516)CGC>CGT	p.R172R	WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	172	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ACCCGCGGCGCGTGAGCATAC	0.672													T	134232990	C	T	134232990	2	4	144	1	0	0	0	0	0	0	0	1	17369	755	27	1		1	WISP1	8	134232990	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	17805729	134232990	12131032	147	80283											
ARC	23237	broad.mit.edu	37	chr8	143694717	143694717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgtctggtacaggtcccGcttgcgccacaggaactggt	14	12	1	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:143694717G>A	uc003ywn.1	-	1	1117	c.916C>T	c.(916-918)CGG>TGG	p.R306W		NM_015193	NP_056008	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated	306					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)	1	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TACAGGTCCCGCTTGCGCCAC	0.662													A	143694717	G	A	143694717	3	1	144	1	0	0	0	0	1	0	0	0	841	1086	38	1	278	1	ARC	8	143694717	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	9461727	143694717	2669305	148	80284											
CYP11B1	1584	broad.mit.edu	37	chr8	143958607	143958607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacttctggattcagccGcaatcggttgaagcgccatt	10	12	2	1	rs140336749		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:143958607G>A	uc003yxi.2	-	3	434	c.427C>T	c.(427-429)CGG>TGG	p.R143W	CYP11B1_uc010mex.2_5'Flank|CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.R143W|CYP11B1_uc010mey.2_Missense_Mutation_p.R214W	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	143					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GGATTCAGCCGCAATCGGTTG	0.612									Familial_Hyperaldosteronism_type_I				A	143958607	G	A	143958607	3	1	144	1	0	0	0	0	1	0	0	0	4145	1086	38	1	1112	1	CYP11B1	8	143958607	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	263890	143958607	2405415	149	80285											
CYP11B2	1585	broad.mit.edu	37	chr8	143999227	143999227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagccagggcgctgccacGcacacctctgcctttgccct	10	18	1	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:143999227G>A	uc003yxk.1	-	1	33	c.30C>T	c.(28-30)TGC>TGT	p.C10C		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	10					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GCGCTGCCACGCACACCTCTG	0.612									Familial_Hyperaldosteronism_type_I				A	143999227	G	A	143999227	2	1	144	1	0	0	0	0	0	0	0	1	4146	1079	38	1		1	CYP11B2	8	143999227	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	40620	143999227	2364795	150	80286											
NAPRT1	93100	broad.mit.edu	37	chr8	144659548	144659548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgatcaagcgaagccgCgctgcgttggtggccaccag	14	14	1	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:144659548C>T	uc003yym.3	-	4	484	c.459G>A	c.(457-459)GCG>GCA	p.A153A	NAPRT1_uc003yyn.3_Silent_p.A153A|NAPRT1_uc011lkh.1_Silent_p.A153A|NAPRT1_uc003yyo.3_Silent_p.A153A	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain	153					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGCGAAGCCGCGCTGCGTTGG	0.677													T	144659548	C	T	144659548	2	4	144	1	0	0	0	0	0	0	0	1	10165	755	27	1		1	NAPRT1	8	144659548	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	660321	144659548	1704474	151	80287											
PTPRD	5789	broad.mit.edu	37	chr9	8518099	8518099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgtaccaaaatggtggtcGaactcaacattcgtgcctgg	10	10	1	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr9:8518099G>A	uc003zkk.2	-	20	2003	c.1292C>T	c.(1291-1293)TCG>TTG	p.S431L	PTPRD_uc003zkp.2_Missense_Mutation_p.S431L|PTPRD_uc003zkq.2_Missense_Mutation_p.S431L|PTPRD_uc003zkr.2_Missense_Mutation_p.S425L|PTPRD_uc003zks.2_Missense_Mutation_p.S421L|PTPRD_uc003zkl.2_Missense_Mutation_p.S431L|PTPRD_uc003zkm.2_Missense_Mutation_p.S418L|PTPRD_uc003zkn.2_Missense_Mutation_p.S431L|PTPRD_uc003zko.2_Missense_Mutation_p.S428L	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	431	Fibronectin type-III 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATGGTGGTCGAACTCAACAT	0.502										TSP Lung(15;0.13)			A	8518099	G	A	8518099	3	1	144	1	0	0	0	0	1	0	0	0	12799	1059	37	1	4618	1	PTPRD	9	8518099	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08		8518099	132695332	152	80288											
SPTLC1	10558	broad.mit.edu	37	chr9	94808310	94808310	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctttatgaatttgtccgcaCttttccttcaacactgcaaa	5	11	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr9:94808310C>G	uc004arl.1	-	12	1145	c.1107G>C	c.(1105-1107)AAG>AAC	p.K369N	SPTLC1_uc011ltv.1_Missense_Mutation_p.K369N	NM_006415	NP_006406	O15269	SPTC1_HUMAN	serine palmitoyltransferase subunit 1 isoform a	369	Cytoplasmic (Potential).					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			ovary(1)|breast(1)	2					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TTTGTCCGCACTTTTCCTTCA	0.299													G	94808310	C	G	94808310	3	3	144	1	0	0	0	0	1	0	0	0	15122	564	20	5	330	5	SPTLC1	9	94808310	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	86290211	94808310	46405121	153	80289											
SPTAN1	6709	broad.mit.edu	37	chr9	131329031	131329031	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcagaaaatggacccaagTggggtcaaagtgctggaaac	12	7	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr9:131329031T>C	uc004bvl.3	+	2	125	c.12T>C	c.(10-12)AGT>AGC	p.S4S	SPTAN1_uc011mbg.1_Silent_p.S4S|SPTAN1_uc011mbh.1_Silent_p.S16S|SPTAN1_uc004bvm.3_Silent_p.S4S|SPTAN1_uc004bvn.3_Silent_p.S4S	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	4					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TGGACCCAAGTGGGGTCAAAG	0.468													C	131329031	T	C	131329031	2	2	144	1	0	0	0	0	0	0	0	1	15116	1693	59	3		3	SPTAN1	9	131329031	Silent	SNP	T	TCGA-CD-8527-01A-11D-2340-08	36520721	131329031	9884400	154	80290											
DOLK	22845	broad.mit.edu	37	chr9	131708026	131708026	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattgtctatctgtgtagtGtatgcttccaggagggacac	12	7	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr9:131708026G>A	uc004bwr.2	-	1	1987	c.1557C>T	c.(1555-1557)TAC>TAT	p.Y519Y	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	dolichol kinase	519	Cytoplasmic (Potential).				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity				0						TCTGTGTAGTGTATGCTTCCA	0.478													A	131708026	G	A	131708026	2	1	144	1	0	0	0	0	0	0	0	1	4703	1372	48	4		4	DOLK	9	131708026	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	378995	131708026	9505405	155	80291											
KIAA1217	56243	broad.mit.edu	37	chr10	24832909	24832910	+	Frame_Shift_Ins	INS	-	-	A													accagtttgaaagccccaagINSaaaaagtttaaattcaaatt							TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:24832909_24832910insA	uc001iru.3	+	19	5113_5114	c.4710_4711insA	c.(4708-4713)AAGAAAfs	p.K1570fs	KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Frame_Shift_Ins_p.K1253fs|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Frame_Shift_Ins_p.K406fs	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1570_1571					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						AAAGCCCCAAGAAAAAGTTTAA	0.465													A	24832910	-	A	24832909	7	5	144	1	0	1	1	0	0	0	0	0	8216	933	33	0	4784	0	KIAA1217	10	24832909	Frame_Shift_Ins	INS	-	TCGA-CD-8527-01A-11D-2340-08		24832909	110701838	156	80292	397	2									
KIAA1217	56243	broad.mit.edu	37	chr10	24832910	24832911	+	Frame_Shift_Ins	INS	-	-	A													ccagtttgaaagccccaagaINSaaaagtttaaattcaaattc							TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:24832909_24832910G>GA	uc001iru.4	+	18	5113_5114	c.4710_4711G>GA	c.(4708-4713)aagaaafs	p.K1570fs	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Frame_Shift_Ins_p.K1253fs|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Frame_Shift_Ins_p.K406fs	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1570					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAAGCCCCAAGAAAAAGTTTAA	0.465													A	24832911	-	A	24832910	7	5	144	1	0	1	1	0	0	0	0	0	8216	247	9	0	4785	0	KIAA1217	10	24832910	Frame_Shift_Ins	INS	-	TCGA-CD-8527-01A-11D-2340-08	1	24832910	110701837	157	80293	397	2									
KIAA1462	57608	broad.mit.edu	37	chr10	30318557	30318557	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggcaggacctgacattcGcaattcttcttcccaaactg	7	13	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:30318557G>A	uc001iux.2	-	2	579	c.520C>T	c.(520-522)CGA>TGA	p.R174*	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Nonsense_Mutation_p.R36*|KIAA1462_uc009xle.1_Nonsense_Mutation_p.R174*	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	174										ovary(4)	4						CCTGACATTCGCAATTCTTCT	0.547													A	30318557	G	A	30318557	4	1	144	1	0	0	0	0	0	1	0	0	8234	1095	38	1	3567	1	KIAA1462	10	30318557	Nonsense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	5485647	30318557	105216190	158	80294											
AGAP7	653268	broad.mit.edu	37	chr10	51472611	51472611	+	Silent	SNP	C	C	G													ctgtcatcaaggaatattgtCgaacacaagctgtattgttg							TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:51472611C>G	uc001jio.2	-	4	495	c.369G>C	c.(367-369)TCG>TCC	p.S123S	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	123					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						GGAATATTGTCGAACACAAGC	0.378													G	51472611	C	G	51472611	2	3	144	1	0	0	0	0	0	0	0	1	373	871	31	5		5	AGAP7	10	51472611	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	21154054	51472611	84062136	159	80295	398	2									
AGAP7	653268	broad.mit.edu	37	chr10	51472618	51472618	+	Missense_Mutation	SNP	A	A	G													caaggaatattgtcgaacacAagctgtattgttgactgaaa							TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:51472618A>G	uc001jio.2	-	4	488	c.362T>C	c.(361-363)TTG>TCG	p.L121S	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	121					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						TGTCGAACACAAGCTGTATTG	0.383													G	51472618	A	G	51472618	3	3	144	1	0	0	0	0	1	0	0	0	373	131	5	3	1645	3	AGAP7	10	51472618	Missense_Mutation	SNP	A	TCGA-CD-8527-01A-11D-2340-08	7	51472618	84062129	160	80296	398	2									
BICC1	80114	broad.mit.edu	37	chr10	60546751	60546751	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtaatcggcaaaggtggCaacaatattaaaaaagtgat	9	5	0	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:60546751C>T	uc001jki.1	+	5	456	c.456C>T	c.(454-456)GGC>GGT	p.G152G		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	152	KH 1.				multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						GCAAAGGTGGCAACAATATTA	0.378													T	60546751	C	T	60546751	2	4	144	1	0	0	0	0	0	0	0	1	1427	697	25	2		2	BICC1	10	60546751	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	9074133	60546751	74987996	161	80297											
EIF4EBP2	1979	broad.mit.edu	37	chr10	72179853	72179853	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacgacaggaaacatgcagTtggtaagagaatggcgatgt	13	6	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:72179853T>C	uc001jrb.2	+	2	626	c.329T>C	c.(328-330)GTT>GCT	p.V110A		NM_004096	NP_004087	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E	110					negative regulation of translational initiation|translation		eukaryotic initiation factor 4E binding				0						AAACATGCAGTTGGTAAGAGA	0.408													C	72179853	T	C	72179853	3	2	144	1	0	0	0	0	1	0	0	0	5033	1725	60	3	335	3	EIF4EBP2	10	72179853	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	11633102	72179853	63354894	162	80298											
PRF1	5551	broad.mit.edu	37	chr10	72360440	72360440	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggcattttcacagagggtGcaggtgccgtcgggccgcag	17	10	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:72360440G>T	uc009xqg.2	-	2	380	c.219C>A	c.(217-219)TGC>TGA	p.C73*	PRF1_uc001jrf.3_Nonsense_Mutation_p.C73*	NM_001083116	NP_001076585	P14222	PERF_HUMAN	perforin 1 precursor	73	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						CACAGAGGGTGCAGGTGCCGT	0.682			M			various leukaemia|lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial_Hemophagocytic_Lymphohistiocytosis				T	72360440	G	T	72360440	4	4	144	1	0	0	0	0	0	1	0	0	12478	1311	46	5	1456	5	PRF1	10	72360440	Nonsense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	180587	72360440	63174307	163	80299											
ZCCHC24	219654	broad.mit.edu	37	chr10	81146114	81146114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccgtcactgcacgcgaCggcagtagtagcccaggacc	12	16	1	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:81146114C>T	uc001kak.2	-	4	900	c.713G>A	c.(712-714)CGT>CAT	p.R238H	ZCCHC24_uc010qlr.1_Silent_p.P178P|ZCCHC24_uc009xrw.2_RNA	NM_153367	NP_699198	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	238							nucleic acid binding|zinc ion binding			breast(1)	1						CTGCACGCGACGGCAGTAGTA	0.697													T	81146114	C	T	81146114	3	4	144	1	0	0	0	0	1	0	0	0	17585	536	19	1	16	1	ZCCHC24	10	81146114	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	8785674	81146114	54388633	164	80300											
ZFYVE27	118813	broad.mit.edu	37	chr10	99511150	99511150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagtctctcttcccaggaCctcacaccgggcagcgtgga	11	14	3	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:99511150C>T	uc001koo.2	+	8	1007	c.807C>T	c.(805-807)GAC>GAT	p.D269D	ZFYVE27_uc001kon.2_Silent_p.D274D|ZFYVE27_uc001koq.2_Silent_p.D183D|ZFYVE27_uc010qpa.1_Silent_p.D151D|ZFYVE27_uc001kop.2_Silent_p.D269D|ZFYVE27_uc010qpb.1_Silent_p.D176D|ZFYVE27_uc010qpc.1_RNA|ZFYVE27_uc010qpd.1_Silent_p.D237D|ZFYVE27_uc001kok.1_RNA|ZFYVE27_uc001kol.1_Silent_p.D269D|ZFYVE27_uc001kom.1_Silent_p.D269D	NM_144588	NP_653189	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27 isoform	269	Extracellular (Potential).				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			ovary(1)	1		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CTTCCCAGGACCTCACACCGG	0.582													T	99511150	C	T	99511150	2	4	144	1	0	0	0	0	0	0	0	1	17666	506	18	4		4	ZFYVE27	10	99511150	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	18365036	99511150	36023597	165	80301											
FAM178A	55719	broad.mit.edu	37	chr10	102709894	102709894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatttgttaaagaaaatggTcttgaagaaaaaggctgaac	10	3	1	5			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:102709894T>C	uc001krt.3	+	16	3724	c.3182T>C	c.(3181-3183)GTC>GCC	p.V1061A	FAM178A_uc001krs.2_Missense_Mutation_p.V1061A	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	1061											0						AAGAAAATGGTCTTGAAGAAA	0.373													C	102709894	T	C	102709894	3	2	144	1	0	0	0	0	1	0	0	0	5503	1667	58	3	3244	3	FAM178A	10	102709894	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	3198744	102709894	32824853	166	80302											
MGEA5	10724	broad.mit.edu	37	chr10	103563707	103563707	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgttatcccagattactggaGctctcttaataatcttagaa	6	8	2	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:103563707G>C	uc001ktv.2	-	7	1264	c.821C>G	c.(820-822)GCT>GGT	p.A274G	MGEA5_uc010qqe.1_Missense_Mutation_p.A274G|MGEA5_uc009xws.2_Missense_Mutation_p.A274G|MGEA5_uc001ktw.2_Missense_Mutation_p.A274G|MGEA5_uc009xwt.2_Intron	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	274					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		GATTACTGGAGCTCTCTTAAT	0.398													C	103563707	G	C	103563707	3	2	144	1	0	0	0	0	1	0	0	0	9555	971	34	5	1969	5	MGEA5	10	103563707	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	853813	103563707	31971040	167	80303											
PSD	5662	broad.mit.edu	37	chr10	104173948	104173948	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gacttgagaggcatccggctCcctggcctgcaggggcaggg	17	12	0	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:104173948C>A	uc001kvg.1	-	5	1658	c.1131G>T	c.(1129-1131)GGG>GGT	p.G377G	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Silent_p.G377G	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	377					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCATCCGGCTCCCTGGCCTGC	0.587													A	104173948	C	A	104173948	2	1	144	1	0	0	0	0	0	0	0	1	12646	842	30	5		5	PSD	10	104173948	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	610241	104173948	31360799	168	80304											
GPR26	2849	broad.mit.edu	37	chr10	125426576	125426576	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagacgctggtgctgctggTggacctgcaccccaggtgag	16	12	0	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:125426576T>C	uc001lhh.2	+	1	706	c.653T>C	c.(652-654)GTG>GCG	p.V218A		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	218	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GTGCTGCTGGTGGACCTGCAC	0.642													C	125426576	T	C	125426576	3	2	144	1	0	0	0	0	1	0	0	0	6684	1696	59	3	655	3	GPR26	10	125426576	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	21252628	125426576	10108171	169	80305											
PPP2R2D	55844	broad.mit.edu	37	chr10	133754196	133754196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttaggatcacggcgctaCgggtacacgttgcctttgct	11	11	1	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:133754196C>T	uc001lks.2	+	3	619	c.376C>T	c.(376-378)CGG>TGG	p.R126W	PPP2R2D_uc001lkr.2_Translation_Start_Site|PPP2R2D_uc001lkt.2_Translation_Start_Site|PPP2R2D_uc009yay.2_Translation_Start_Site	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B,	159					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			skin(1)	1		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		CACGGCGCTACGGGTACACGT	0.423													T	133754196	C	T	133754196	3	4	144	1	0	0	0	0	1	0	0	0	12387	527	19	1	387	1	PPP2R2D	10	133754196	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	8327620	133754196	1780551	170	80306											
APBB1	322	broad.mit.edu	37	chr11	6432422	6432422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaccctcccccatggcGctgcgcaggtccttgggtcc	10	20	0	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:6432422G>A	uc001mdb.1	-	2	256	c.156C>T	c.(154-156)AGC>AGT	p.S52S	APBB1_uc001mdc.1_Silent_p.S52S|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	52					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCCCCATGGCGCTGCGCAGGT	0.697													A	6432422	G	A	6432422	2	1	144	1	0	0	0	0	0	0	0	1	759	1078	38	1		1	APBB1	11	6432422	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08		6432422	128574094	171	80307											
EIF3F	8665	broad.mit.edu	37	chr11	8009011	8009011	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccggctgcggctccgGttcccgctgcggctccagcc	13	19	0	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:8009011G>C	uc001mfw.2	+	1	145	c.112G>C	c.(112-114)GTT>CTT	p.V38L	EIF3F_uc010rbj.1_5'UTR	NM_003754	NP_003745	O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3,	38						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(1)	1				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		tgcggctccggttcccgctgc	0.343											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	8009011	G	C	8009011	3	2	144	1	0	0	0	0	1	0	0	0	5016	1261	44	5	114	5	EIF3F	11	8009011	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	1576589	8009011	126997505	172	80308											
TMEM41B	440026	broad.mit.edu	37	chr11	9335967	9335967	+	Frame_Shift_Del	DEL	C	C	-													agcgcccaactgcgatcgttCggcgactctgcctttcgcca							TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:9335967delC	uc001mhm.2	-	1	330	c.22delG	c.(22-24)GAAfs	p.E8fs	TMEM41B_uc001mhn.1_Frame_Shift_Del_p.E8fs	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B isoform 1	8						integral to membrane					0				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TGCGATCGTTCGGCGACTCTG	0.672													-	9335967	C	-	9335967	7	5	144	1	0	1	0	1	0	0	0	0	16162	893	31	0	897	0	TMEM41B	11	9335967	Frame_Shift_Del	DEL	C	TCGA-CD-8527-01A-11D-2340-08	1326956	9335967	125670549	173	80309											
SBF2	81846	broad.mit.edu	37	chr11	9989983	9989983	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattttcctgtattaattccTgaacccgggcttcattaatc	5	11	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:9989983T>C	uc001mib.2	-	14	1643	c.1505A>G	c.(1504-1506)CAG>CGG	p.Q502R	SBF2_uc001mif.3_Missense_Mutation_p.Q258R|SBF2_uc001mih.3_Missense_Mutation_p.Q31R	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	502					myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TATTAATTCCTGAACCCGGGC	0.448													C	9989983	T	C	9989983	3	2	144	1	0	0	0	0	1	0	0	0	13859	1580	55	3	4152	3	SBF2	11	9989983	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	654016	9989983	125016533	174	80310											
DBX1	120237	broad.mit.edu	37	chr11	20177850	20177850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccgggactgctcgagtgCgcgggcgaggggggcagcgg	21	11	0	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:20177850C>T	uc001mpw.1	-	4	1059	c.1059G>A	c.(1057-1059)GCG>GCA	p.A353A		NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	314					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TGCTCGAGTGCGCGGGCGAGG	0.706													T	20177850	C	T	20177850	2	4	144	1	0	0	0	0	0	0	0	1	4259	755	27	1		1	DBX1	11	20177850	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	10187867	20177850	114828666	175	80311											
SLC17A6	57084	broad.mit.edu	37	chr11	22380965	22380965	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttttctatttcagggttttCggagctgccatacttcttac	7	10	3	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:22380965C>T	uc001mqk.2	+	4	878	c.465C>T	c.(463-465)TTC>TTT	p.F155F		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	155	Helical; (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						TCAGGGTTTTCGGAGCTGCCA	0.363													T	22380965	C	T	22380965	2	4	144	1	0	0	0	0	0	0	0	1	14421	883	31	1		1	SLC17A6	11	22380965	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	2203115	22380965	112625551	176	80312											
ALX4	60529	broad.mit.edu	37	chr11	44286723	44286723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttgttgccgagccaggacGggttctgaatctgggagagg	17	8	2	2	rs149897209	byFrequency	TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:44286723G>A	uc001myb.2	-	4	1021	c.917C>T	c.(916-918)CCG>CTG	p.P306L		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	306					hair follicle development						0						GAGCCAGGACGGGTTCTGAAT	0.682													A	44286723	G	A	44286723	3	1	144	1	0	0	0	0	1	0	0	0	558	1116	39	1	322	1	ALX4	11	44286723	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	21905758	44286723	90719793	177	80313											
GYLTL1B	120071	broad.mit.edu	37	chr11	45949133	45949133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctgcctattctctctaCgactacctcaggtgggcctg	9	15	3	0	rs139156494	byFrequency	TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:45949133C>T	uc001nbv.1	+	11	1704	c.1593C>T	c.(1591-1593)TAC>TAT	p.Y531Y	GYLTL1B_uc001nbw.1_Silent_p.Y500Y|GYLTL1B_uc001nbx.1_Silent_p.Y531Y|GYLTL1B_uc001nby.1_Silent_p.Y214Y|GYLTL1B_uc001nbz.1_5'Flank	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	531	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)		ATTCTCTCTACGACTACCTCA	0.597													T	45949133	C	T	45949133	2	4	144	1	0	0	0	0	0	0	0	1	6907	547	19	1		1	GYLTL1B	11	45949133	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	1662410	45949133	89057383	178	80314											
ARHGAP1	392	broad.mit.edu	37	chr11	46701257	46701257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggggctcaggaagctccCggaggaaggtcttgaggatg	18	8	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:46701257C>T	uc001ndd.2	-	11	1037	c.968G>A	c.(967-969)CGG>CAG	p.R323Q		NM_004308	NP_004299	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	323	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			skin(1)	1		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		AGGAAGCTCCCGGAGGAAGGT	0.612													T	46701257	C	T	46701257	3	4	144	1	0	0	0	0	1	0	0	0	861	652	23	1	363	1	ARHGAP1	11	46701257	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	752124	46701257	88305259	179	80315											
OR8K1	390157	broad.mit.edu	37	chr11	56113601	56113601	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attacagacaaccctgggctGcaggctccactgtttggact	10	12	0	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:56113601G>A	uc010rjg.1	+	1	87	c.87G>A	c.(85-87)CTG>CTA	p.L29L		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K,	29	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					ACCCTGGGCTGCAGGCTCCAC	0.463										HNSCC(65;0.19)			A	56113601	G	A	56113601	2	1	144	1	0	0	0	0	0	0	0	1	11243	1306	46	2		2	OR8K1	11	56113601	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	9412344	56113601	78892915	180	80316											
OR5M10	390167	broad.mit.edu	37	chr11	56344314	56344314	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtatggcaaggattacatctCtgttccgtaggctatagatc	10	8	1	1	rs2852414		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:56344314C>G	uc001niz.1	-	1	884	c.884G>C	c.(883-885)AGA>ACA	p.R295T		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	295	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GATTACATCTCTGTTCCGTAG	0.398													G	56344314	C	G	56344314	3	3	144	1	0	0	0	0	1	0	0	0	11173	913	32	5	67	5	OR5M10	11	56344314	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	230713	56344314	78662202	181	80317											
GAL3ST3	89792	broad.mit.edu	37	chr11	65810589	65810589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaacctcctccacctggcGgatgaggcccgccaggtagg	13	14	0	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:65810589G>A	uc001ogv.2	-	2	845	c.685C>T	c.(685-687)CGC>TGC	p.R229C	GAL3ST3_uc001ogw.2_Missense_Mutation_p.R229C	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	229	Lumenal (Potential).				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(1)	1						TCCACCTGGCGGATGAGGCCC	0.662													A	65810589	G	A	65810589	3	1	144	1	0	0	0	0	1	0	0	0	6199	1116	39	1	614	1	GAL3ST3	11	65810589	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	9466275	65810589	69195927	182	80318											
DNAJB13	374407	broad.mit.edu	37	chr11	73679403	73679403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcccagggccccaacatcaTcccagcagacatcattttca	6	16	3	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:73679403T>C	uc001ouo.2	+	6	1371	c.620T>C	c.(619-621)ATC>ACC	p.I207T		NM_153614	NP_705842	P59910	DJB13_HUMAN	testis spermatogenesis apoptosis-related protein	207					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding				0	Breast(11;7.42e-05)					CCCAACATCATCCCAGCAGAC	0.393													C	73679403	T	C	73679403	3	2	144	1	0	0	0	0	1	0	0	0	4618	1435	50	3	642	3	DNAJB13	11	73679403	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	7868814	73679403	61327113	183	80319											
GRM5	2915	broad.mit.edu	37	chr11	88258490	88258490	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcttacctgctcattgttgCtctcccaccattccccatac	4	17	2	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:88258490C>G	uc001pcq.2	-	8	2913	c.2713G>C	c.(2713-2715)GCA>CCA	p.A905P	GRM5_uc009yvm.2_Intron	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	905	Cytoplasmic (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTCATTGTTGCTCTCCCACCA	0.507													G	88258490	C	G	88258490	3	3	144	1	0	0	0	0	1	0	0	0	6800	797	28	5	933	5	GRM5	11	88258490	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	14579087	88258490	46748026	184	80320											
AKAP3	10566	broad.mit.edu	37	chr12	4737889	4737889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgattctccgggtttgaacCgaacatcttggaactctgct	9	10	3	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:4737889C>T	uc001qnb.3	-	4	408	c.179G>A	c.(178-180)CGG>CAG	p.R60Q		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	60					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						GGGTTTGAACCGAACATCTTG	0.502													T	4737889	C	T	4737889	3	4	144	1	0	0	0	0	1	0	0	0	452	652	23	1	2390	1	AKAP3	12	4737889	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08		4737889	129114006	185	80321											
ZNF705A	440077	broad.mit.edu	37	chr12	8328533	8328533	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagacgcatccaccagtatgAcaatggtaagttttatagct	8	8	0	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:8328533A>G	uc001qud.1	+	4	385	c.313A>G	c.(313-315)ACA>GCA	p.T105A		NM_001004328	NP_001004328	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				Kidney(36;0.0877)		CACCAGTATGACAATGGTAAG	0.358													G	8328533	A	G	8328533	3	3	144	1	0	0	0	0	1	0	0	0	18105	275	10	3	327	3	ZNF705A	12	8328533	Missense_Mutation	SNP	A	TCGA-CD-8527-01A-11D-2340-08	3590644	8328533	125523362	186	80322											
LRRK2	120892	broad.mit.edu	37	chr12	40629471	40629471	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcataatgccagtgtaaacTtgtcagtgattggactgaag	10	6	2	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:40629471T>C	uc001rmg.3	+	4	512	c.391T>C	c.(391-393)TTG>CTG	p.L131L		NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	131					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CAGTGTAAACTTGTCAGTGAT	0.303													C	40629471	T	C	40629471	2	2	144	1	0	0	0	0	0	0	0	1	9033	1606	56	3		3	LRRK2	12	40629471	Silent	SNP	T	TCGA-CD-8527-01A-11D-2340-08	32300938	40629471	93222424	187	80323											
LRRK2	120892	broad.mit.edu	37	chr12	40761458	40761458	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttctagagatacaatcttGcttgaccgtttgggacatca	8	8	3	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:40761458G>T	uc001rmg.3	+	51	7596	c.7475G>T	c.(7474-7476)TGC>TTC	p.C2492F	LRRK2_uc009zjw.2_Missense_Mutation_p.C1330F|LRRK2_uc001rmi.2_3'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2492					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATACAATCTTGCTTGACCGTT	0.299													T	40761458	G	T	40761458	3	4	144	1	0	0	0	0	1	0	0	0	9033	1319	46	5	7677	5	LRRK2	12	40761458	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	131987	40761458	93090437	188	80324											
KCNH3	23416	broad.mit.edu	37	chr12	49948186	49948186	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaaggccaatgccgacgTgaaggggctgacgtactgcg	16	9	0	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:49948186T>C	uc001ruh.1	+	11	2245	c.1985T>C	c.(1984-1986)GTG>GCG	p.V662A	KCNH3_uc010smj.1_Missense_Mutation_p.V602A	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	662	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						AATGCCGACGTGAAGGGGCTG	0.652													C	49948186	T	C	49948186	3	2	144	1	0	0	0	0	1	0	0	0	8033	1696	59	3	2027	3	KCNH3	12	49948186	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	9186728	49948186	83903709	189	80325											
KRT6B	3854	broad.mit.edu	37	chr12	52844237	52844237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatgtttctcagctccgaGtccagacgaccccgttcccc	8	17	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:52844237G>A	uc001sak.2	-	2	756	c.708C>T	c.(706-708)GAC>GAT	p.D236D		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	236	Coil 1B.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCAGCTCCGAGTCCAGACGAC	0.557													A	52844237	G	A	52844237	2	1	144	1	0	0	0	0	0	0	0	1	8481	1020	36	4		4	KRT6B	12	52844237	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	2896051	52844237	81007658	190	80326											
KRT79	338785	broad.mit.edu	37	chr12	53225307	53225307	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacccaggtaggcctcaaagAggggctccaggttgttcctg	13	11	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:53225307A>G	uc001sbb.2	-	2	614	c.581T>C	c.(580-582)CTC>CCC	p.L194P	KRT79_uc001sba.2_5'Flank	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	194	Rod.|Linker 1.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4						GGCCTCAAAGAGGGGCTCCAG	0.607													G	53225307	A	G	53225307	3	3	144	1	0	0	0	0	1	0	0	0	8492	304	11	3	1058	3	KRT79	12	53225307	Missense_Mutation	SNP	A	TCGA-CD-8527-01A-11D-2340-08	381070	53225307	80626588	191	80327											
MFSD5	84975	broad.mit.edu	37	chr12	53647497	53647497	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcttcatggcagccagccTgcttggctcttccctgtacc	9	16	2	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:53647497T>C	uc001sci.1	+	2	1069	c.878T>C	c.(877-879)CTG>CCG	p.L293P	MFSD5_uc001sch.1_Missense_Mutation_p.L400P	NM_032889	NP_116278	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing	293	Helical; (Potential).				transport	integral to membrane				skin(2)|ovary(1)	3						GCAGCCAGCCTGCTTGGCTCT	0.572													C	53647497	T	C	53647497	3	2	144	1	0	0	0	0	1	0	0	0	9534	1580	55	3	1205	3	MFSD5	12	53647497	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	422190	53647497	80204398	192	80328											
ERBB3	2065	broad.mit.edu	37	chr12	56481648	56481648	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaccccaaccagtgctgccAtgatgagtgtgccgggggct	13	13	0	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:56481648A>G	uc001sjh.2	+	6	876	c.683A>G	c.(682-684)CAT>CGT	p.H228R	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.H169R|ERBB3_uc001sji.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	228	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAGTGCTGCCATGATGAGTGT	0.537													G	56481648	A	G	56481648	3	3	144	1	0	0	0	0	1	0	0	0	5208	217	8	3	836	3	ERBB3	12	56481648	Missense_Mutation	SNP	A	TCGA-CD-8527-01A-11D-2340-08	2834151	56481648	77370247	193	80329											
TMEM5	10329	broad.mit.edu	37	chr12	64202655	64202655	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctgtgcaccacggtgctcCtctgcagttactcaagtcca	8	14	3	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:64202655C>A	uc001srq.1	+	6	1219	c.1115C>A	c.(1114-1116)CCT>CAT	p.P372H	TMEM5_uc001srr.1_Missense_Mutation_p.P269H|TMEM5_uc001srs.1_Missense_Mutation_p.P112H	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	372	Extracellular (Potential).					integral to plasma membrane					0		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		CACGGTGCTCCTCTGCAGTTA	0.448													A	64202655	C	A	64202655	3	1	144	1	0	0	0	0	1	0	0	0	16171	681	24	5	1137	5	TMEM5	12	64202655	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	7721007	64202655	69649240	194	80330											
TMTC2	160335	broad.mit.edu	37	chr12	83358805	83358805	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctgttttcctcatgcagagGgctacttctccaggagaaca	9	11	3	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:83358805G>C	uc001szt.2	+	5	2033	c.1601G>C	c.(1600-1602)GGG>GCG	p.G534A	TMTC2_uc001szr.1_Missense_Mutation_p.G534A|TMTC2_uc001szs.1_Missense_Mutation_p.G534A|TMTC2_uc010suk.1_Missense_Mutation_p.G289A	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	534	TPR 3.					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						TCATGCAGAGGGCTACTTCTC	0.348													C	83358805	G	C	83358805	3	2	144	1	0	0	0	0	1	0	0	0	16258	1232	43	5	1619	5	TMTC2	12	83358805	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	19156150	83358805	50493090	195	80331											
PRDM4	11108	broad.mit.edu	37	chr12	108134917	108134917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttggcccatggctgccgCtatgtccctgggtaggaaga	14	11	0	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:108134917C>T	uc001tmp.2	-	10	2167	c.1730G>A	c.(1729-1731)AGC>AAC	p.S577N	PRDM4_uc010sww.1_5'UTR|PRDM4_uc001tmq.2_RNA	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	577					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						ATGGCTGCCGCTATGTCCCTG	0.488													T	108134917	C	T	108134917	3	4	144	1	0	0	0	0	1	0	0	0	12459	797	28	2	687	2	PRDM4	12	108134917	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	24776112	108134917	25716978	196	80332											
SSH1	54434	broad.mit.edu	37	chr12	109182208	109182208	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctggtgtggtccaggcggtaGaagaaaggaggggggctctt	19	6	1	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:109182208G>T	uc001tnm.2	-	15	2793	c.2706C>A	c.(2704-2706)TTC>TTA	p.F902L	SSH1_uc001tnl.2_Missense_Mutation_p.F590L	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	902	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4						CCAGGCGGTAGAAGAAAGGAG	0.587													T	109182208	G	T	109182208	3	4	144	1	0	0	0	0	1	0	0	0	15183	933	33	5	447	5	SSH1	12	109182208	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	1047291	109182208	24669687	197	80333											
TMEM116	89894	broad.mit.edu	37	chr12	112374526	112374526	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaggctgagtacaaagctGcccaggaaaatggcgatacc	13	9	0	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:112374526G>T	uc001ttc.1	-	10	938	c.282C>A	c.(280-282)GGC>GGA	p.G94G	TMEM116_uc001ttd.1_Silent_p.G186G|TMEM116_uc001tte.1_Silent_p.G151G|TMEM116_uc001ttf.1_Silent_p.G94G|TMEM116_uc001ttg.1_Intron|TMEM116_uc001tth.1_Intron|TMEM116_uc001tti.1_Silent_p.G186G	NM_138341	NP_612350	Q8NCL8	TM116_HUMAN	transmembrane protein 116	94	Helical; (Potential).					integral to membrane				ovary(1)	1						GTACAAAGCTGCCCAGGAAAA	0.483													T	112374526	G	T	112374526	2	4	144	1	0	0	0	0	0	0	0	1	16027	1306	46	5		5	TMEM116	12	112374526	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	3192318	112374526	21477369	198	80334											
TRAFD1	10906	broad.mit.edu	37	chr12	112587666	112587666	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agctgcccaggaggcgtgtcAgacaccagggtatttattag	13	9	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:112587666A>T	uc001ttp.2	+	9	1356	c.1270A>T	c.(1270-1272)AGA>TGA	p.R424*	TRAFD1_uc001tto.2_Nonsense_Mutation_p.R424*|TRAFD1_uc010syj.1_RNA	NM_006700	NP_006691	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	424					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding				0						GAGGCGTGTCAGACACCAGGG	0.577													T	112587666	A	T	112587666	4	4	144	1	0	0	0	0	0	1	0	0	16444	180	7	5	1300	5	TRAFD1	12	112587666	Nonsense_Mutation	SNP	A	TCGA-CD-8527-01A-11D-2340-08	213140	112587666	21264229	199	80335											
NOS1	4842	broad.mit.edu	37	chr12	117710313	117710313	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctctaggagcatgttggaCacggcggggaggccgtacca	15	10	1	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:117710313C>T	uc001twm.1	-	10	2402	c.1716G>A	c.(1714-1716)GTG>GTA	p.V572V		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	572					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCATGTTGGACACGGCGGGGA	0.612													T	117710313	C	T	117710313	2	4	144	1	0	0	0	0	0	0	0	1	10541	465	17	4		4	NOS1	12	117710313	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	5122647	117710313	16141582	200	80336											
NOS1	4842	broad.mit.edu	37	chr12	117715775	117715775	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccctcttacttggggtgcctGatgggaacttccaacaccag	10	13	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:117715775G>T	uc001twm.1	-	9	2339	c.1653C>A	c.(1651-1653)ATC>ATA	p.I551I		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	551					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGGGGTGCCTGATGGGAACTT	0.607													T	117715775	G	T	117715775	2	4	144	1	0	0	0	0	0	0	0	1	10541	1280	45	5		5	NOS1	12	117715775	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	5462	117715775	16136120	201	80337											
GCN1L1	10985	broad.mit.edu	37	chr12	120599753	120599753	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcaaactcctcccgcgtcAccaggcgcagtgcagggttc	12	15	1	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:120599753A>G	uc001txo.2	-	21	2286	c.2273T>C	c.(2272-2274)GTG>GCG	p.V758A		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	758					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCCGCGTCACCAGGCGCAG	0.582													G	120599753	A	G	120599753	3	3	144	1	0	0	0	0	1	0	0	0	6299	159	6	3	5894	3	GCN1L1	12	120599753	Missense_Mutation	SNP	A	TCGA-CD-8527-01A-11D-2340-08	2883978	120599753	13252142	202	80338											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37678834	37678834	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgcattgatgctggcaTatcggacagtgccaatgagg	14	7	0	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr13:37678834T>C	uc001uwm.1	-	1	968	c.560A>G	c.(559-561)TAT>TGT	p.Y187C		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	187	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)	1		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GATGCTGGCATATCGGACAGT	0.448													C	37678834	T	C	37678834	3	2	144	1	0	0	0	0	1	0	0	0	3951	1406	49	3	457	3	CSNK1A1L	13	37678834	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08		37678834	77491044	203	80339											
PCDH17	27253	broad.mit.edu	37	chr13	58209157	58209157	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccaacaacctgactgtccCtcaggggcacgcgggctgcc	11	17	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr13:58209157C>A	uc001vhq.1	+	1	3369	c.2477C>A	c.(2476-2478)CCT>CAT	p.P826H	PCDH17_uc010aec.1_Missense_Mutation_p.P826H	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	826	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTGACTGTCCCTCAGGGGCAC	0.602													A	58209157	C	A	58209157	3	1	144	1	0	0	0	0	1	0	0	0	11512	681	24	5	2479	5	PCDH17	13	58209157	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	20530323	58209157	56960721	204	80340											
PCDH20	64881	broad.mit.edu	37	chr13	61988055	61988055	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggcccggctgtaactcccGaggcagctgaagggtcccac	14	14	0	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr13:61988055G>A	uc001vid.3	-	2	541	c.177C>T	c.(175-177)CTC>CTT	p.L59L	PCDH20_uc010thj.1_Silent_p.L59L	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	32					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGTAACTCCCGAGGCAGCTGA	0.607													A	61988055	G	A	61988055	2	1	144	1	0	0	0	0	0	0	0	1	11515	1045	37	1		1	PCDH20	13	61988055	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	3778898	61988055	53181823	205	80341											
NALCN	259232	broad.mit.edu	37	chr13	101910814	101910814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccgccaggtagaactcgtCgtactgcctcctgaagtttt	9	13	0	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr13:101910814C>T	uc001vox.1	-	11	1435	c.1246G>A	c.(1246-1248)GAC>AAC	p.D416N	NALCN_uc001voy.2_Missense_Mutation_p.D131N|NALCN_uc001voz.2_Missense_Mutation_p.D416N|NALCN_uc001vpa.2_Missense_Mutation_p.D416N	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	416	Extracellular (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAGAACTCGTCGTACTGCCTC	0.547													T	101910814	C	T	101910814	3	4	144	1	0	0	0	0	1	0	0	0	10148	884	31	1	4106	1	NALCN	13	101910814	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	39922759	101910814	13259064	206	80342											
APEX1	328	broad.mit.edu	37	chr14	20923813	20923813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtaacgggaatgccgaaGcgtgggaaaaagggagcggt	17	6	0	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr14:20923813G>A	uc001vxg.2	+	2	341	c.9G>A	c.(7-9)AAG>AAA	p.K3K	OSGEP_uc001vxf.2_5'Flank|APEX1_uc001vxh.2_Silent_p.K3K|APEX1_uc001vxi.2_Silent_p.K3K|APEX1_uc001vxj.2_Silent_p.K3K	NM_001641	NP_001632	P27695	APEX1_HUMAN	APEX nuclease 1	3	Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli.				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			ovary(2)|breast(2)	4	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	GAATGCCGAAGCGTGGGAAAA	0.552								Direct_reversal_of_damage|Other_BER_factors					A	20923813	G	A	20923813	2	1	144	1	0	0	0	0	0	0	0	1	769	962	34	2		2	APEX1	14	20923813	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08		20923813	86425727	207	80343											
NYNRIN	57523	broad.mit.edu	37	chr14	24884516	24884516	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggaggaagcaccccatagcCtatacctcaaaacccctcct	7	16	1	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr14:24884516C>A	uc001wpf.3	+	9	3879	c.3561C>A	c.(3559-3561)GCC>GCA	p.A1187A		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	1187					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						ACCCCATAGCCTATACCTCAA	0.637													A	24884516	C	A	24884516	2	1	144	1	0	0	0	0	0	0	0	1	10796	668	24	5		5	NYNRIN	14	24884516	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	3960703	24884516	82465024	208	80344											
FOXG1	2290	broad.mit.edu	37	chr14	29237317	29237317	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagctgcggcgccgctccAccacctcgcgggccaagctg	13	18	0	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr14:29237317A>G	uc001wqe.2	+	1	1031	c.832A>G	c.(832-834)ACC>GCC	p.T278A		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	278					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GCGCCGCTCCACCACCTCGCG	0.697													G	29237317	A	G	29237317	3	3	144	1	0	0	0	0	1	0	0	0	6007	159	6	3	834	3	FOXG1	14	29237317	Missense_Mutation	SNP	A	TCGA-CD-8527-01A-11D-2340-08	4352801	29237317	78112223	209	80345											
CTAGE5	4253	broad.mit.edu	37	chr14	39818141	39818141	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttctcgagattattttccAccaggggatttcccaggtcc	9	12	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr14:39818141A>G	uc001wvg.3	+	23	2544	c.2208A>G	c.(2206-2208)CCA>CCG	p.P736P	CTAGE5_uc001wuz.3_Silent_p.P724P|CTAGE5_uc001wuy.3_Silent_p.P656P|CTAGE5_uc001wvb.3_Silent_p.P664P|CTAGE5_uc001wvc.3_Silent_p.P638P|CTAGE5_uc001wva.3_Silent_p.P707P|CTAGE5_uc001wvh.3_Silent_p.P693P|CTAGE5_uc001wvf.3_Silent_p.P661P|CTAGE5_uc001wvi.3_Silent_p.P741P|CTAGE5_uc010amz.2_Silent_p.P352P|CTAGE5_uc001wvj.3_Silent_p.P707P	NM_005930	NP_005921	O15320	CTGE5_HUMAN	CTAGE family, member 5 isoform 1	736	Pro-rich.						enzyme activator activity|protein binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		ATTATTTTCCACCAGGGGATT	0.443													G	39818141	A	G	39818141	2	3	144	1	0	0	0	0	0	0	0	1	3994	146	6	3		3	CTAGE5	14	39818141	Silent	SNP	A	TCGA-CD-8527-01A-11D-2340-08	10580824	39818141	67531399	210	80346											
RBM25	58517	broad.mit.edu	37	chr14	73572625	73572630	+	In_Frame_Del	DEL	CGAGAG	CGAGAG	-													aaagagagagagagagagaaCgagagcgagaacgagaacgg							TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr14:73572624_73572629ACGAGAG>A	uc010ttu.2	+	11	1488_1493	c.1212_1217ACGAGAG>A	c.(1210-1218)gaacgagag>gaAg	p.404_406ERE>E	RBM25_uc001xno.3_In_Frame_Del_p.404_406ERE>E|RBM25_uc001xnp.3_In_Frame_Del_p.199_201ERE>E	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	404	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		gagagagagaacgagagcgagaacga	0.447													-	73572630	CGAGAG	-	73572625	7	5	144	1	0	1	0	1	0	0	0	0	13125	528	19	0	1251	0	RBM25	14	73572625	In_Frame_Del	DEL	CGAGAG	TCGA-CD-8527-01A-11D-2340-08	33754484	73572625	33776915	211	80347											
NRXN3	9369	broad.mit.edu	37	chr14	79270092	79270092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgggctgctggtggctaCgacctccagggactctgccg	14	12	1	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr14:79270092C>T	uc001xun.2	+	6	1546	c.1055C>T	c.(1054-1056)ACG>ATG	p.T352M	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.T486M	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	725	Laminin G-like 4.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTGGTGGCTACGACCTCCAGG	0.552													T	79270092	C	T	79270092	3	4	144	1	0	0	0	0	1	0	0	0	10667	536	19	1	1069	1	NRXN3	14	79270092	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	5697467	79270092	28079448	212	80348											
NRXN3	9369	broad.mit.edu	37	chr14	79432747	79432748	+	Frame_Shift_Ins	INS	-	-	G													ttgcagtcgagcttgtcaagINSgggtaagtagaagggatcac							TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr14:79432746_79432747A>AG	uc001xun.3	+	8	2146_2147	c.1655_1656A>AG	c.(1654-1656)aagfs	p.K552fs	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Frame_Shift_Ins_p.K677fs	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	145					angiogenesis|cell adhesion	integral to membrane		p.V551V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GAGCTTGTCAAGGGGTAAGTAG	0.421													G	79432748	-	G	79432747	7	5	144	1	0	1	1	0	0	0	0	0	10667	991	35	0	1682	0	NRXN3	14	79432747	Frame_Shift_Ins	INS	-	TCGA-CD-8527-01A-11D-2340-08	162655	79432747	27916793	213	80349											
KIAA1409	57578	broad.mit.edu	37	chr14	94152946	94152946	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcgatggagtgtgtgaGgcagtacatcaacgaagtgc	15	7	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr14:94152946G>T	uc001ybv.1	+	42	6583	c.6500G>T	c.(6499-6501)AGG>ATG	p.R2167M	KIAA1409_uc001ybs.1_Missense_Mutation_p.R2145M	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2322						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		GAGTGTGTGAGGCAGTACATC	0.517													T	94152946	G	T	94152946	3	4	144	1	0	0	0	0	1	0	0	0	8230	1000	35	5	6596	5	KIAA1409	14	94152946	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	14720199	94152946	13196594	214	80350											
EML1	2009	broad.mit.edu	37	chr14	100363543	100363543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttccgacgggagagaccGtctacttcatcgcatccgtg	11	13	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr14:100363543G>A	uc001ygs.2	+	7	808	c.739G>A	c.(739-741)GTC>ATC	p.V247I	EML1_uc010avt.1_Missense_Mutation_p.V234I|EML1_uc010tww.1_Missense_Mutation_p.V235I|EML1_uc001ygq.2_Missense_Mutation_p.V266I|EML1_uc001ygr.2_Missense_Mutation_p.V266I	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	247						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GGGAGAGACCGTCTACTTCAT	0.488													A	100363543	G	A	100363543	3	1	144	1	0	0	0	0	1	0	0	0	5096	1145	40	1	826	1	EML1	14	100363543	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	6210597	100363543	6985997	215	80351											
AHNAK2	113146	broad.mit.edu	37	chr14	105406981	105406981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagaaggggcttctccaGgggccactactgatgtctgc	12	12	3	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr14:105406981G>A	uc010axc.1	-	7	14927	c.14807C>T	c.(14806-14808)CCT>CTT	p.P4936L	AHNAK2_uc001ypx.2_Missense_Mutation_p.P4836L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4936						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)			GGCTTCTCCAGGGGCCACTAC	0.562													A	105406981	G	A	105406981	3	1	144	1	0	0	0	0	1	0	0	0	415	1000	35	4	2584	4	AHNAK2	14	105406981	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	5043438	105406981	1942559	216	80352											
BMF	90427	broad.mit.edu	37	chr15	40398015	40398015	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccataaaagagtcgctggggTtcctcagtcaccccacaagg	10	13	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr15:40398015T>A	uc001zkv.2	-	2	359	c.273A>T	c.(271-273)GAA>GAT	p.E91D	BMF_uc001zkt.2_Missense_Mutation_p.E91D|BMF_uc001zku.2_Missense_Mutation_p.E91D|BMF_uc001zkw.2_Missense_Mutation_p.E91D	NM_033503	NP_277038	Q96LC9	BMF_HUMAN	Bcl2 modifying factor isoform bmf-1	91					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding			ovary(1)	1		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		GTCGCTGGGGTTCCTCAGTCA	0.587													A	40398015	T	A	40398015	3	1	144	1	0	0	0	0	1	0	0	0	1454	1722	60	5	293	5	BMF	15	40398015	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08		40398015	62133377	217	80353											
CILP	8483	broad.mit.edu	37	chr15	65489691	65489691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcttccccactgtctgcCgatgagtgccccccatgttg	9	16	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr15:65489691C>T	uc002aon.2	-	9	3114	c.2933G>A	c.(2932-2934)CGG>CAG	p.R978Q		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	978					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						CACTGTCTGCCGATGAGTGCC	0.562													T	65489691	C	T	65489691	3	4	144	1	0	0	0	0	1	0	0	0	3429	652	23	1	625	1	CILP	15	65489691	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	25091676	65489691	37041701	218	80354											
MEGF11	84465	broad.mit.edu	37	chr15	66190400	66190400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatatagctggagttatgacCgcaaccttcttggaccacac	9	11	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr15:66190400C>T	uc002apm.2	-	23	3148	c.3007G>A	c.(3007-3009)GGT>AGT	p.G1003S	MEGF11_uc002apl.2_Missense_Mutation_p.G928S	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11 precursor	1003						basolateral plasma membrane|integral to membrane				pancreas(1)	1						GAGTTATGACCGCAACCTTCT	0.458													T	66190400	C	T	66190400	3	4	144	1	0	0	0	0	1	0	0	0	9461	652	23	1	131	1	MEGF11	15	66190400	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	700709	66190400	36340992	219	80355											
PARP6	56965	broad.mit.edu	37	chr15	72543197	72543197	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcactggaaggcaaaGgtgctgccatagagcttctt	10	12	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr15:72543197G>T	uc002auc.2	-	17	1866	c.1407C>A	c.(1405-1407)ACC>ACA	p.T469T	PARP6_uc002aua.2_Silent_p.T315T|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Silent_p.T470T	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	469	PARP catalytic.						NAD+ ADP-ribosyltransferase activity				0						GGAAGGCAAAGGTGCTGCCAT	0.592													T	72543197	G	T	72543197	2	4	144	1	0	0	0	0	0	0	0	1	11464	987	35	5		5	PARP6	15	72543197	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	6352797	72543197	29988195	220	80356											
AKAP13	11214	broad.mit.edu	37	chr15	86225395	86225395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttgttttctagattcacGgcccttccacagtaccttcc	6	15	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr15:86225395G>A	uc002blv.1	+	15	5278	c.5108G>A	c.(5107-5109)CGG>CAG	p.R1703Q	AKAP13_uc002blt.1_Missense_Mutation_p.R1685Q|AKAP13_uc002blu.1_Missense_Mutation_p.R1707Q|AKAP13_uc010bnf.1_Missense_Mutation_p.R325Q|AKAP13_uc002blw.1_Missense_Mutation_p.R170Q|AKAP13_uc002blx.1_5'UTR|AKAP13_uc010bne.1_Missense_Mutation_p.R356Q	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	1703					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						CTAGATTCACGGCCCTTCCAC	0.338													A	86225395	G	A	86225395	3	1	144	1	0	0	0	0	1	0	0	0	449	1116	39	1	5232	1	AKAP13	15	86225395	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	13682198	86225395	16305997	221	80357											
VPS33B	26276	broad.mit.edu	37	chr15	91543197	91543197	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggccctgccagcttcgccgCtctagcacctgggaaggtgt	13	14	1	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr15:91543197C>A	uc002bqp.1	-	21	1944	c.1590G>T	c.(1588-1590)GAG>GAT	p.E530D	VPS33B_uc002bqq.1_Missense_Mutation_p.E439D|VPS33B_uc010uqu.1_Missense_Mutation_p.E503D	NM_018668	NP_061138	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33B (yeast homolog))	530					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			ovary(2)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)					AGCTTCGCCGCTCTAGCACCT	0.527													A	91543197	C	A	91543197	3	1	144	1	0	0	0	0	1	0	0	0	17199	796	28	5	275	5	VPS33B	15	91543197	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	5317802	91543197	10988195	222	80358											
LRRK1	79705	broad.mit.edu	37	chr15	101569258	101569258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgaccctatttggctctcCgaatgtctgcagaggatctt	9	12	3	1	rs137936039	by1000genomes	TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr15:101569258C>T	uc002bwr.2	+	20	3103	c.2784C>T	c.(2782-2784)TCC>TCT	p.S928S	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	928					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTTGGCTCTCCGAATGTCTGC	0.552													T	101569258	C	T	101569258	2	4	144	1	0	0	0	0	0	0	0	1	9032	639	23	1		1	LRRK1	15	101569258	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	10026061	101569258	962134	223	80359											
RAB11FIP3	9727	broad.mit.edu	37	chr16	539001	539001	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgctttcctcacgcccagGtaatgacgccttgttccagc	8	17	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:539001G>T	uc002chf.2	+	5	1604	c.1265_splice	c.e5+1	p.S422_splice	RAB11FIP3_uc010uuf.1_Splice_Site_p.S126_splice|RAB11FIP3_uc010uug.1_Splice_Site_p.S112_splice	NM_014700	NP_055515	O75154	RFIP3_HUMAN	rab11-family interacting protein 3 isoform 1						cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding				0		Hepatocellular(16;0.0218)				TCACGCCCAGGTAATGACGCC	0.567													T	539001	G	T	539001	5	4	144	1	0	0	0	0	0	0	1	0	12895	1275	44	5	1303	5	RAB11FIP3	16	539001	Splice_Site	SNP	G	TCGA-CD-8527-01A-11D-2340-08		539001	89815752	224	80360											
MSLNL	401827	broad.mit.edu	37	chr16	824912	824912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcagccgggggcagcgccGcaggttctccagcatgtggg	18	12	2	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:824912G>A	uc002cjz.1	-	7	1660	c.1660C>T	c.(1660-1662)CGG>TGG	p.R554W		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	203	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4						GGGCAGCGCCGCAGGTTCTCC	0.697													A	824912	G	A	824912	3	1	144	1	0	0	0	0	1	0	0	0	9882	1086	38	1	1541	1	MSLNL	16	824912	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	285911	824912	89529841	225	80361											
EME2	197342	broad.mit.edu	37	chr16	1825267	1825267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcagaggccaagctcggGcagggcaggccccatgggga	18	12	0	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:1825267G>A	uc002cmq.1	+	5	653	c.653G>A	c.(652-654)GGC>GAC	p.G218D	MRPS34_uc002cmn.2_5'Flank|MRPS34_uc002cmo.2_5'Flank|MRPS34_uc002cmp.1_5'Flank|EME2_uc010brw.1_Intron	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	essential meiotic endonuclease 1 homolog 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			lung(1)|central_nervous_system(1)|pancreas(1)	3						CCAAGCTCGGGCAGGGCAGGC	0.672								Direct_reversal_of_damage|Homologous_recombination					A	1825267	G	A	1825267	3	1	144	1	0	0	0	0	1	0	0	0	5089	1203	42	2	671	2	EME2	16	1825267	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	1000355	1825267	88529486	226	80362											
HS3ST6	64711	broad.mit.edu	37	chr16	1961699	1961699	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggcacgcgtgggtgtggCcggcccttggacttgcccag	18	12	0	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:1961699C>T	uc002cnf.2	-	2	828	c.828G>A	c.(826-828)CGG>CGA	p.R276R		NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine)	276											0						GTGGGTGTGGCCGGCCCTTGG	0.677													T	1961699	C	T	1961699	2	4	144	1	0	0	0	0	0	0	0	1	7369	726	26	2		2	HS3ST6	16	1961699	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	136432	1961699	88393054	227	80363											
ZNF598	90850	broad.mit.edu	37	chr16	2052336	2052336	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcgatctcggtgcggaAggcgtgggtgaactgctccg	18	9	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:2052336A>C	uc002cof.1	-	7	781	c.766T>G	c.(766-768)TTC>GTC	p.F256V	ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	256						intracellular	zinc ion binding			lung(1)|breast(1)	2						TCGGTGCGGAAGGCGTGGGTG	0.637													C	2052336	A	C	2052336	3	2	144	1	0	0	0	0	1	0	0	0	18025	72	3	5	1980	5	ZNF598	16	2052336	Missense_Mutation	SNP	A	TCGA-CD-8527-01A-11D-2340-08	90637	2052336	88302417	228	80364											
CCNF	899	broad.mit.edu	37	chr16	2495531	2495531	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgtgcctgcacctgacCgtggagtgtgtggaccggta	15	11	0	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:2495531C>T	uc002cqd.1	+	10	1090	c.1002C>T	c.(1000-1002)ACC>ACT	p.T334T	CCNF_uc002cqe.1_Silent_p.T26T	NM_001761	NP_001752	P41002	CCNF_HUMAN	cyclin F	334	Cyclin N-terminal.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			central_nervous_system(1)|kidney(1)	2		Ovarian(90;0.17)				TGCACCTGACCGTGGAGTGTG	0.607													T	2495531	C	T	2495531	2	4	144	1	0	0	0	0	0	0	0	1	2922	639	23	1		1	CCNF	16	2495531	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	443195	2495531	87859222	229	80365											
CORO7	79585	broad.mit.edu	37	chr16	4457673	4457673	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccaggccctggcagtcGccagagttttacctgcaaga	12	13	0	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:4457673G>A	uc002cwh.3	-	5	436	c.316C>T	c.(316-318)CGA>TGA	p.R106*	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Nonsense_Mutation_p.R106*|CORO7_uc002cwg.3_5'UTR|CORO7_uc010uxh.1_Nonsense_Mutation_p.R88*|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_5'UTR|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_5'UTR|CORO7_uc010btr.1_RNA	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	106	WD 1.					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						CCTGGCAGTCGCCAGAGTTTT	0.652													A	4457673	G	A	4457673	4	1	144	1	0	0	0	0	0	1	0	0	3759	1095	38	1	2557	1	CORO7	16	4457673	Nonsense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	1962142	4457673	85897080	230	80366											
NAGPA	51172	broad.mit.edu	37	chr16	5080423	5080423	+	Frame_Shift_Del	DEL	C	C	-													gccgtctgcatgaaagagcaCcagctgccctttccggtcgt							TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:5080423delC	uc002cyg.2	-	4	775	c.754delG	c.(754-756)GTGfs	p.V252fs	NAGPA_uc010buc.2_5'Flank|NAGPA_uc002cyf.2_Frame_Shift_Del_p.V110fs|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_Intron	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester	252	Lumenal (Potential).				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity				0					N-Acetyl-D-glucosamine(DB00141)	TGAAAGAGCACCAGCTGCCCT	0.597													-	5080423	C	-	5080423	7	5	144	1	0	1	0	1	0	0	0	0	10144	507	18	0	821	0	NAGPA	16	5080423	Frame_Shift_Del	DEL	C	TCGA-CD-8527-01A-11D-2340-08	622750	5080423	85274330	231	80367											
CP110	9738	broad.mit.edu	37	chr16	19548520	19548520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcatgaaccatatgccaGcagtcagtgtatagcaagtc	10	10	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:19548520G>A	uc002dgl.3	+	4	1776	c.1529G>A	c.(1528-1530)AGC>AAC	p.S510N	CP110_uc002dgk.3_Missense_Mutation_p.S510N			O43303	CP110_HUMAN	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;	510	Interaction with CEP76.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding				0						CCATATGCCAGCAGTCAGTGT	0.453													A	19548520	G	A	19548520	3	1	144	1	0	0	0	0	1	0	0	0	3788	971	34	2	1539	2	CP110	16	19548520	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	14468097	19548520	70806233	232	80368											
SCNN1G	6340	broad.mit.edu	37	chr16	23200994	23200994	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtggtgggattccaactggTaagatttcaccttctcattc	9	9	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:23200994T>A	uc002dlm.1	+	3	757	c.618_splice	c.e3+2	p.L206_splice		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma						excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TTCCAACTGGTAAGATTTCAC	0.517													A	23200994	T	A	23200994	5	1	144	1	0	0	0	0	0	0	1	0	13930	1652	57	5	626	5	SCNN1G	16	23200994	Splice_Site	SNP	T	TCGA-CD-8527-01A-11D-2340-08	3652474	23200994	67153759	233	80369											
SCNN1G	6340	broad.mit.edu	37	chr16	23205501	23205501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctccataggaatttcacGcttttccaccacccgatgca	5	15	1	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:23205501G>A	uc002dlm.1	+	5	958	c.819G>A	c.(817-819)ACG>ACA	p.T273T		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma	273	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GGAATTTCACGCTTTTCCACC	0.488													A	23205501	G	A	23205501	2	1	144	1	0	0	0	0	0	0	0	1	13930	1074	38	1		1	SCNN1G	16	23205501	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	4507	23205501	67149252	234	80370											
IRX6	79190	broad.mit.edu	37	chr16	55360314	55360314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgctctgtctcagatgtgGcatcaggctccaccccagcg	10	15	3	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:55360314G>A	uc002ehy.2	+	2	645	c.112G>A	c.(112-114)GCA>ACA	p.A38T	IRX6_uc002ehx.2_Missense_Mutation_p.A38T|IRX6_uc010ccb.1_RNA	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	38						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						CTCAGATGTGGCATCAGGCTC	0.622													A	55360314	G	A	55360314	3	1	144	1	0	0	0	0	1	0	0	0	7848	1203	42	2	118	2	IRX6	16	55360314	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	32154813	55360314	34994439	235	80371											
SLC6A2	6530	broad.mit.edu	37	chr16	55725948	55725948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcacatcgacttctaccGcttgaaagaggccacggtca	9	14	2	2	rs147833183		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:55725948G>A	uc002eif.2	+	6	1013	c.902G>A	c.(901-903)CGC>CAC	p.R301H	SLC6A2_uc010ccd.2_Missense_Mutation_p.R301H|SLC6A2_uc002eig.2_Missense_Mutation_p.R301H|SLC6A2_uc002eih.2_Missense_Mutation_p.R301H|SLC6A2_uc002eii.2_Missense_Mutation_p.R196H|SLC6A2_uc002eij.2_Intron	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	301					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GACTTCTACCGCTTGAAAGAG	0.542													A	55725948	G	A	55725948	3	1	144	1	0	0	0	0	1	0	0	0	14683	1087	38	1	1011	1	SLC6A2	16	55725948	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	365634	55725948	34628805	236	80372											
CDH11	1009	broad.mit.edu	37	chr16	65032498	65032498	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggcacgttggcatgatAggtctcgtgcaggaactccg	13	11	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:65032498A>T	uc002eoi.2	-	4	924	c.490T>A	c.(490-492)TAT>AAT	p.Y164N	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.Y164N|CDH11_uc010vin.1_Missense_Mutation_p.Y38N|CDH11_uc010vio.1_Missense_Mutation_p.Y164N	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	164	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTGGCATGATAGGTCTCGTGC	0.592			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			T	65032498	A	T	65032498	3	4	144	1	0	0	0	0	1	0	0	0	3097	420	15	5	1940	5	CDH11	16	65032498	Missense_Mutation	SNP	A	TCGA-CD-8527-01A-11D-2340-08	9306550	65032498	25322255	237	80373											
KIAA0182	23199	broad.mit.edu	37	chr16	85691162	85691162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcacctggatatgggccGgcccccggtgccggcggagg	18	14	0	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:85691162G>A	uc002fix.2	+	8	1666	c.1592G>A	c.(1591-1593)CGG>CAG	p.R531Q	KIAA0182_uc002fiw.2_Missense_Mutation_p.R427Q|KIAA0182_uc002fiy.2_Missense_Mutation_p.R458Q	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	531							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						GATATGGGCCGGCCCCCGGTG	0.682													A	85691162	G	A	85691162	3	1	144	1	0	0	0	0	1	0	0	0	8159	1116	39	1	1622	1	KIAA0182	16	85691162	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	20658664	85691162	4663591	238	80374											
ANKRD11	29123	broad.mit.edu	37	chr16	89350272	89350272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctcgcttctcccgggccCggctgtcccgcctcctctcc	9	21	3	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:89350272C>T	uc002fmx.1	-	9	3139	c.2678G>A	c.(2677-2679)CGG>CAG	p.R893Q	ANKRD11_uc002fmy.1_Missense_Mutation_p.R893Q|ANKRD11_uc002fnc.1_Missense_Mutation_p.R893Q|ANKRD11_uc002fnb.1_Missense_Mutation_p.R850Q	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	893	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTCCCGGGCCCGGCTGTCCCG	0.547													T	89350272	C	T	89350272	3	4	144	1	0	0	0	0	1	0	0	0	639	652	23	1	5333	1	ANKRD11	16	89350272	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	3659110	89350272	1004481	239	80375											
GAS8	2622	broad.mit.edu	37	chr16	90094048	90094048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attatttccaccaaaggcacCgaaaaagaaagggaagaaag	9	7	0	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:90094048C>T	uc002fqi.1	+	2	130	c.8C>T	c.(7-9)CCG>CTG	p.P3L	GAS8_uc010vps.1_5'UTR|GAS8_uc002fqh.2_5'UTR|GAS8_uc010vpt.1_Missense_Mutation_p.P3L|GAS8_uc010vpu.1_5'UTR|GAS8_uc010vpv.1_Intron|GAS8_uc010cjc.1_5'UTR|GAS8_uc010vpw.1_5'UTR|GAS8_uc002fqj.1_5'UTR	NM_001481	NP_001472	O95995	GAS8_HUMAN	growth arrest-specific 8	3	Regulates microtubule-binding (By similarity).				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CCAAAGGCACCGAAAAAGAAA	0.527													T	90094048	C	T	90094048	3	4	144	1	0	0	0	0	1	0	0	0	6251	652	23	1	14	1	GAS8	16	90094048	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	743776	90094048	260705	240	80376											
GAS8	2622	broad.mit.edu	37	chr16	90106768	90106768	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccatccaggaggtgcagCagaagacagggttcaagaac	13	10	1	3			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:90106768C>T	uc002fqi.1	+	9	1194	c.1072C>T	c.(1072-1074)CAG>TAG	p.Q358*	GAS8_uc010vps.1_Nonsense_Mutation_p.Q333*|GAS8_uc002fqh.2_Nonsense_Mutation_p.Q275*|GAS8_uc010vpv.1_Nonsense_Mutation_p.Q329*|GAS8_uc010cjc.1_Nonsense_Mutation_p.Q275*|GAS8_uc010vpw.1_Nonsense_Mutation_p.Q275*|GAS8_uc002fqj.1_Nonsense_Mutation_p.Q166*|LOC100130015_uc002fql.2_3'UTR|uc002fqm.1_5'Flank	NM_001481	NP_001472	O95995	GAS8_HUMAN	growth arrest-specific 8	358	Potential.				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		GGAGGTGCAGCAGAAGACAGG	0.622													T	90106768	C	T	90106768	4	4	144	1	0	0	0	0	0	1	0	0	6251	711	25	2	1106	2	GAS8	16	90106768	Nonsense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	12720	90106768	247985	241	80377											
ALOX12	239	broad.mit.edu	37	chr17	6905132	6905133	+	Splice_Site	INS	-	-	A													ctgcaccccatcttcaaggtINSacttattaatctattaaatc							TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:6905132_6905133insA	uc002gdx.3	+	8	1214	c.1161_splice	c.e8+2	p.K387_splice	uc002gdy.1_RNA	NM_000697	NP_000688	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase						anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			central_nervous_system(1)	1						ATCTTCAAGGTACTTATTAATC	0.48													A	6905133	-	A	6905132	8	5	144	1	0	1	1	0	0	0	1	0	536	1652	57	0	1193	0	ALOX12	17	6905132	Splice_Site	INS	-	TCGA-CD-8527-01A-11D-2340-08		6905132	74290078	242	80378	399	2									
ALOX12	239	broad.mit.edu	37	chr17	6905133	6905134	+	Splice_Site	INS	-	-	A													tgcaccccatcttcaaggtaINScttattaatctattaaatca							TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:6905132_6905133T>TA	uc002gdx.4	+	8	1214	c.1161_splice	c.e8+2	p.K387_splice	LOC100506713_uc021tou.1_Intron|LOC100506713_uc002gdy.2_Non-coding_Transcript	NM_000697	NP_000688	P18054	LOX12_HUMAN	Homo sapiens arachidonate 12-lipoxygenase (ALOX12), mRNA.	387	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATCTTCAAGGTACTTATTAATC	0.48													A	6905134	-	A	6905133	8	5	144	1	0	1	1	0	0	0	1	0	536	406	14	0		0	ALOX12	17	6905133	Splice_Site	INS	-	TCGA-CD-8527-01A-11D-2340-08	1	6905133	74290077	243	80379	399	2									
DHRS7C	201140	broad.mit.edu	37	chr17	9674955	9674955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcctccgcacggtgcgCatcacctcctccgccacctc	6	21	2	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:9674955C>T	uc010vvb.1	-	6	789	c.789G>A	c.(787-789)ATG>ATA	p.M263I	DHRS7C_uc010cof.2_Missense_Mutation_p.M262I	NM_001105571	NP_001099041	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	263						extracellular region	binding|oxidoreductase activity				0						GCACGGTGCGCATCACCTCCT	0.612													T	9674955	C	T	9674955	3	4	144	1	0	0	0	0	1	0	0	0	4497	710	25	2	153	2	DHRS7C	17	9674955	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	2769822	9674955	71520255	244	80380											
NR1D1	9572	broad.mit.edu	37	chr17	38252140	38252140	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcgtcagctgttgtggaaActgggagaagcccaccaggg	16	9	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:38252140A>C	uc002htz.1	-	5	1431	c.805T>G	c.(805-807)TTT>GTT	p.F269V	NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_Intron	NM_021724	NP_068370	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	269					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			skin(1)	1	Colorectal(19;0.000442)					TGTTGTGGAAACTGGGAGAAG	0.667													C	38252140	A	C	38252140	3	2	144	1	0	0	0	0	1	0	0	0	10615	43	2	5	1055	5	NR1D1	17	38252140	Missense_Mutation	SNP	A	TCGA-CD-8527-01A-11D-2340-08	28577185	38252140	42943070	245	80381											
KRT35	3886	broad.mit.edu	37	chr17	39633826	39633826	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgatctcacactccagccgGgcccggacgtccagcagcac	10	17	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:39633826G>C	uc002hws.2	-	6	1207	c.1164C>G	c.(1162-1164)GCC>GCG	p.A388A		NM_002280	NP_002271	Q92764	KRT35_HUMAN	keratin 35	388	Rod.|Coil 2.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			ovary(1)|skin(1)	2		Breast(137;0.000286)				ACTCCAGCCGGGCCCGGACGT	0.602													C	39633826	G	C	39633826	2	2	144	1	0	0	0	0	0	0	0	1	8472	1219	43	5		5	KRT35	17	39633826	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	1381686	39633826	41561384	246	80382											
KRT36	8689	broad.mit.edu	37	chr17	39643639	39643639	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagctcaatctctagcgcGttgaccgtacgtctcagctc	9	14	3	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:39643639G>A	uc002hwt.2	-	5	951	c.951C>T	c.(949-951)AAC>AAT	p.N317N		NM_003771	NP_003762	O76013	KRT36_HUMAN	keratin 36	317	Rod.|Coil 2.					intermediate filament	protein binding|structural constituent of epidermis				0		Breast(137;0.000286)				TCTCTAGCGCGTTGACCGTAC	0.627													A	39643639	G	A	39643639	2	1	144	1	0	0	0	0	0	0	0	1	8473	1136	40	1		1	KRT36	17	39643639	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	9813	39643639	41551571	247	80383											
KRT17	3872	broad.mit.edu	37	chr17	39776787	39776787	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagccacgcagatacttaCgttctttcttgtactgagtc	8	11	2	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:39776787C>T	uc002hxh.2	-	7	1325	c.1204_splice	c.e7+1	p.P402_splice	JUP_uc010wfs.1_Intron	NM_000422	NP_000413	Q04695	K1C17_HUMAN	keratin 17						epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2		Breast(137;0.000307)				CAGATACTTACGTTCTTTCTT	0.572									Steatocystoma_Multiplex				T	39776787	C	T	39776787	5	4	144	1	0	0	0	0	0	0	1	0	8454	550	19	1	101	1	KRT17	17	39776787	Splice_Site	SNP	C	TCGA-CD-8527-01A-11D-2340-08	133148	39776787	41418423	248	80384											
COASY	80347	broad.mit.edu	37	chr17	40714969	40714970	+	Missense_Mutation	DNP	CG	CG	TT													agtccagaatctcgcccaccCgccagaagtcgtgttgacag							TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:40714969_40714970CG>TT	uc002hzz.2	+	2	486_487	c.329_330CG>TT	c.(328-330)CCG>CTT	p.P110L	COASY_uc010cyj.2_Missense_Mutation_p.P139L|COASY_uc002iab.2_5'UTR|COASY_uc002iad.2_Missense_Mutation_p.P110L|COASY_uc002iac.2_Missense_Mutation_p.P110L|COASY_uc002iae.2_5'Flank	NM_001042529	NP_001035994	Q13057	COASY_HUMAN	coenzyme A synthase isoform a	110					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity				0		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CTCGCCCACCCGCCAGAAGTCG	0.554													TT	40714970	CG	TT	40714969	3	4	144	1	0	0	0	0	1	0	0	0	3652	652	23	1	422	1	COASY	17	40714969	Missense_Mutation	DNP	CG	TCGA-CD-8527-01A-11D-2340-08	938182	40714969	40480241	249	80385											
WNK4	65266	broad.mit.edu	37	chr17	40939912	40939912	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtcccatctctgcctgCcctcggtgagagggggtcgc	14	14	1	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:40939912C>A	uc002ibj.2	+	8	1879	c.1858C>A	c.(1858-1860)CCC>ACC	p.P620T	WNK4_uc010wgx.1_Missense_Mutation_p.P284T|WNK4_uc002ibk.1_Missense_Mutation_p.P392T|WNK4_uc010wgy.1_Intron	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	620					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TCTCTGCCTGCCCTCGGTGAG	0.627													A	40939912	C	A	40939912	3	1	144	1	0	0	0	0	1	0	0	0	17377	739	26	5	1888	5	WNK4	17	40939912	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	224943	40939912	40255298	250	80386											
WNK4	65266	broad.mit.edu	37	chr17	40946850	40946850	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacagccttctccacctcctCatcttctcctggaactcctt	4	18	4	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:40946850C>T	uc002ibj.2	+	14	2432	c.2411C>T	c.(2410-2412)TCA>TTA	p.S804L	WNK4_uc010wgx.1_Missense_Mutation_p.S468L|WNK4_uc002ibk.1_Missense_Mutation_p.S576L	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	804					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TCCACCTCCTCATCTTCTCCT	0.567													T	40946850	C	T	40946850	3	4	144	1	0	0	0	0	1	0	0	0	17377	838	29	4	2465	4	WNK4	17	40946850	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	6938	40946850	40248360	251	80387											
AARSD1	80755	broad.mit.edu	37	chr17	41116247	41116247	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacagcaggagaccacggtgGtggtgaactgaacagagagg	17	7	0	4			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:41116247G>C	uc002icc.2	-	2	50	c.47C>G	c.(46-48)ACC>AGC	p.T16S	AARSD1_uc002icd.2_Missense_Mutation_p.T129S|AARSD1_uc002ice.2_Missense_Mutation_p.T99S|AARSD1_uc002icf.2_Missense_Mutation_p.T190S|AARSD1_uc010whg.1_Missense_Mutation_p.T190S|AARSD1_uc010cyu.1_Missense_Mutation_p.T16S	NM_025267	NP_079543	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	16					alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding				0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GACCACGGTGGTGGTGAACTG	0.468													C	41116247	G	C	41116247	3	2	144	1	0	0	0	0	1	0	0	0	21	1261	44	5	1235	5	AARSD1	17	41116247	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	169397	41116247	40078963	252	80388											
IMP5	162540	broad.mit.edu	37	chr17	43922821	43922821	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacccccagagcccatcatCgactacaacatgctggtcat	7	16	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:43922821C>T	uc010wka.1	+	1	549	c.549C>T	c.(547-549)ATC>ATT	p.I183I	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	183	Extracellular (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		AGCCCATCATCGACTACAACA	0.637													T	43922821	C	T	43922821	2	4	144	1	0	0	0	0	0	0	0	1	7721	874	31	1		1	IMP5	17	43922821	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	2806574	43922821	37272389	253	80389											
MAPT	4137	broad.mit.edu	37	chr17	44101420	44101420	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtggtgtctggggacacGtctccacggcatctcagcaa	12	13	3	0	rs116567476	by1000genomes	TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:44101420G>A	uc002ijr.3	+	14	2480	c.2160G>A	c.(2158-2160)ACG>ACA	p.T720T	MAPT_uc010dau.2_Silent_p.T738T|MAPT_uc002ijs.3_Silent_p.T403T|MAPT_uc002ijx.3_Silent_p.T374T|MAPT_uc002ijt.3_Silent_p.T345T|MAPT_uc002iju.3_Silent_p.T314T|MAPT_uc002ijv.3_Silent_p.T321T	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	720					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)				CTGGGGACACGTCTCCACGGC	0.607													A	44101420	G	A	44101420	2	1	144	1	0	0	0	0	0	0	0	1	9297	1132	40	1		1	MAPT	17	44101420	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	178599	44101420	37093790	254	80390											
CD79B	974	broad.mit.edu	37	chr17	62007664	62007664	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgccggaggcgctgttcAtgtagcagtgcattttcacc	11	11	2	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:62007664A>G	uc002jdq.1	-	3	283	c.200T>C	c.(199-201)ATG>ACG	p.M67T	CD79B_uc002jdo.1_Missense_Mutation_p.M41T|CD79B_uc002jdp.1_Missense_Mutation_p.M68T|CD79B_uc002jdr.1_Intron	NM_000626	NP_000617	P40259	CD79B_HUMAN	CD79B antigen isoform 1 precursor	67	Extracellular (Potential).|Ig-like V-type.				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity				0						GGCGCTGTTCATGTAGCAGTG	0.582			Mis|O		DLBCL								G	62007664	A	G	62007664	3	3	144	1	0	0	0	0	1	0	0	0	3037	217	8	3	505	3	CD79B	17	62007664	Missense_Mutation	SNP	A	TCGA-CD-8527-01A-11D-2340-08	17906244	62007664	19187546	255	80391											
MAP2K6	5608	broad.mit.edu	37	chr17	67519770	67519770	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaattgatgcaggttgcaaAccatacatggccgtaagtac	9	9	0	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:67519770A>G	uc002jij.2	+	8	939	c.651A>G	c.(649-651)AAA>AAG	p.K217K		NM_002758	NP_002749	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	217	Protein kinase.				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|pancreas(1)	5	Breast(10;6.05e-10)					CAGGTTGCAAACCATACATGG	0.453													G	67519770	A	G	67519770	2	3	144	1	0	0	0	0	0	0	0	1	9241	40	2	3		3	MAP2K6	17	67519770	Silent	SNP	A	TCGA-CD-8527-01A-11D-2340-08	5512106	67519770	13675440	256	80392											
AANAT	15	broad.mit.edu	37	chr17	74464954	74464954	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtttcgctgcctcaccccGgaggacgctgtcagcgcctt	12	15	2	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:74464954G>T	uc002jro.2	+	2	360	c.126G>T	c.(124-126)CCG>CCT	p.P42P	AANAT_uc010wte.1_RNA	NM_001088	NP_001079	Q16613	SNAT_HUMAN	arylalkylamine N-acetyltransferase	42	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity				0						GCCTCACCCCGGAGGACGCTG	0.647													T	74464954	G	T	74464954	2	4	144	1	0	0	0	0	0	0	0	1	18	1103	39	5		5	AANAT	17	74464954	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	6945184	74464954	6730256	257	80393											
TBC1D16	125058	broad.mit.edu	37	chr17	77926603	77926603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaaccgcaggccggcgtcgGagctggacggggggctggtg	22	10	0	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:77926603G>A	uc002jxj.2	-	4	910	c.794C>T	c.(793-795)TCC>TTC	p.S265F	TBC1D16_uc002jxh.2_5'Flank|TBC1D16_uc002jxi.2_5'Flank|TBC1D16_uc002jxk.1_5'Flank	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	265	Ser-rich.					intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GCCGGCGTCGGAGCTGGACGG	0.672													A	77926603	G	A	77926603	3	1	144	1	0	0	0	0	1	0	0	0	15602	1174	41	4	1545	4	TBC1D16	17	77926603	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	3461649	77926603	3268607	258	80394											
THOC1	9984	broad.mit.edu	37	chr18	225119	225119	+	Frame_Shift_Del	DEL	G	G	-													tttgaaaatctttctccatcGggggggttttcagatagtag							TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr18:225119delG	uc002kkj.3	-	14	1147	c.1107delC	c.(1105-1107)CCCfs	p.P369fs	THOC1_uc002kkk.3_RNA|THOC1_uc002kkl.2_3'UTR|THOC1_uc002kkh.3_5'UTR	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	THO complex 1	369					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			ovary(1)	1		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTTCTCCATCGGGGGGGTTTT	0.388													-	225119	G	-	225119	7	5	144	1	0	1	0	1	0	0	0	0	15861	1103	39	0	898	0	THOC1	18	225119	Frame_Shift_Del	DEL	G	TCGA-CD-8527-01A-11D-2340-08		225119	77852129	259	80395											
DCC	1630	broad.mit.edu	37	chr18	50994306	50994306	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctctatgtccactctggAgaggtcgctggctgcacgcc	13	13	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr18:50994306A>G	uc002lfe.1	+	25	4249	c.3662A>G	c.(3661-3663)GAG>GGG	p.E1221G	DCC_uc010dpf.1_Missense_Mutation_p.E856G	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1221	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCCACTCTGGAGAGGTCGCTG	0.522													G	50994306	A	G	50994306	3	3	144	1	0	0	0	0	1	0	0	0	4282	304	11	3	3760	3	DCC	18	50994306	Missense_Mutation	SNP	A	TCGA-CD-8527-01A-11D-2340-08	50769187	50994306	27082942	260	80396											
MKNK2	2872	broad.mit.edu	37	chr19	2046617	2046617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaccagggcgggctgagCactgcaggccaaagtcagag	14	13	2	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr19:2046617C>T	uc002lus.2	-	3	370	c.125G>A	c.(124-126)TGC>TAC	p.C42Y	MKNK2_uc010xgu.1_5'UTR|MKNK2_uc010xgv.1_5'UTR|MKNK2_uc002lur.2_Missense_Mutation_p.C42Y	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	MAP kinase-interacting serine/threonine kinase 2	42					cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(1)|breast(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGGCTGAGCACTGCAGGCC	0.706													T	2046617	C	T	2046617	3	4	144	1	0	0	0	0	1	0	0	0	9605	710	25	2	1415	2	MKNK2	19	2046617	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08		2046617	57082366	261	80397											
THOP1	7064	broad.mit.edu	37	chr19	2807486	2807486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggagcaggagcgtgcGgtgattctggagctgaagcg	20	7	1	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr19:2807486G>A	uc002lwj.2	+	8	1088	c.933G>A	c.(931-933)GCG>GCA	p.A311A	THOP1_uc010xgz.1_Silent_p.A190A|THOP1_uc002lwk.2_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	311					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGCGTGCGGTGATTCTGG	0.682													A	2807486	G	A	2807486	2	1	144	1	0	0	0	0	0	0	0	1	15868	1103	39	1		1	THOP1	19	2807486	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	760869	2807486	56321497	262	80398											
ZNF560	147741	broad.mit.edu	37	chr19	9578389	9578389	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcagatgtaccaaaggCtttaccacattccttacacc	6	14	0	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr19:9578389C>G	uc002mlp.1	-	10	1444	c.1234G>C	c.(1234-1236)GCC>CCC	p.A412P	ZNF560_uc010dwr.1_Missense_Mutation_p.A306P	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	412	C2H2-type 4.				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						GTACCAAAGGCTTTACCACAT	0.448													G	9578389	C	G	9578389	3	3	144	1	0	0	0	0	1	0	0	0	17988	797	28	5	1142	5	ZNF560	19	9578389	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	6770903	9578389	49550594	263	80399											
RYR1	6261	broad.mit.edu	37	chr19	39008073	39008073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggctcatggcagacattGgggggctggccgagtcaggt	18	9	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr19:39008073G>A	uc002oit.2	+	66	9890	c.9760G>A	c.(9760-9762)GGG>AGG	p.G3254R	RYR1_uc002oiu.2_Missense_Mutation_p.G3254R|RYR1_uc002oiv.1_Missense_Mutation_p.G174R|RYR1_uc010xuf.1_Missense_Mutation_p.G174R	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3254					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCAGACATTGGGGGGCTGGC	0.652													A	39008073	G	A	39008073	3	1	144	1	0	0	0	0	1	0	0	0	13768	1348	47	4	10022	4	RYR1	19	39008073	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	29429684	39008073	20120910	264	80400											
DLL3	10683	broad.mit.edu	37	chr19	39998199	39998199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccggagccgtcagtccaCgcactcccggatgcactcaa	9	18	2	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr19:39998199C>T	uc002olx.2	+	7	1672	c.1614C>T	c.(1612-1614)CAC>CAT	p.H538H	DLL3_uc002olw.2_Silent_p.H538H	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	538	Cytoplasmic (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGTCAGTCCACGCACTCCCGG	0.692													T	39998199	C	T	39998199	2	4	144	1	0	0	0	0	0	0	0	1	4567	535	19	1		1	DLL3	19	39998199	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	990126	39998199	19130784	265	80401											
CCDC8	83987	broad.mit.edu	37	chr19	46915929	46915929	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctccagggtgcggccctcttCttccaggaactgggtcagcc	12	15	3	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr19:46915929C>T	uc002pep.2	-	1	991	c.139G>A	c.(139-141)GAA>AAA	p.E47K		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	47						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		cggccctcttcttccaggaac	0.169													T	46915929	C	T	46915929	3	4	144	1	0	0	0	0	1	0	0	0	2853	922	32	4	1481	4	CCDC8	19	46915929	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	6917730	46915929	12213054	266	80402											
ZNF615	284370	broad.mit.edu	37	chr19	52496650	52496650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttctctcctgtatgagtgCgccgatgtacattgagatga	11	8	1	3	rs147205148		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr19:52496650C>T	uc002pye.1	-	6	1971	c.1679G>A	c.(1678-1680)CGC>CAC	p.R560H	ZNF615_uc002pyf.1_Missense_Mutation_p.R571H|ZNF615_uc002pyg.1_Missense_Mutation_p.R452H|ZNF615_uc002pyh.1_Missense_Mutation_p.R571H|ZNF615_uc010epi.1_Missense_Mutation_p.R567H|ZNF615_uc010ydg.1_Missense_Mutation_p.R565H	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	560	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTATGAGTGCGCCGATGTAC	0.448													T	52496650	C	T	52496650	3	4	144	1	0	0	0	0	1	0	0	0	18037	768	27	1	520	1	ZNF615	19	52496650	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	5580721	52496650	6632333	267	80403											
ZNF471	57573	broad.mit.edu	37	chr19	57035986	57035987	+	Frame_Shift_Ins	INS	-	-	A													ttataatcacacatcagataINSaaaaaagcttctccaaaaat							TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr19:57035985_57035986T>TA	uc002qnh.3	+	4	682_683	c.549_550T>TA	c.(547-552)gataaafs	p.D183fs		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	Homo sapiens zinc finger protein 471 (ZNF471), mRNA.	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ACACATCAGATAAAAAAAGCTT	0.297													A	57035987	-	A	57035986	7	5	144	1	0	1	1	0	0	0	0	0	17927	363	13	0	564	0	ZNF471	19	57035986	Frame_Shift_Ins	INS	-	TCGA-CD-8527-01A-11D-2340-08	4539336	57035986	2092997	268	80404											
AURKC	6795	broad.mit.edu	37	chr19	57743527	57743527	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaggttctcttcaagtcGcagatagagaaggaaggact	12	7	2	3			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr19:57743527G>A	uc002qoe.2	+	3	420	c.231G>A	c.(229-231)TCG>TCA	p.S77S	AURKC_uc002qoc.2_Silent_p.S58S|AURKC_uc002qod.2_Silent_p.S43S|AURKC_uc010etv.2_Silent_p.S74S	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	77	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TCTTCAAGTCGCAGATAGAGA	0.517													A	57743527	G	A	57743527	2	1	144	1	0	0	0	0	0	0	0	1	1224	1074	38	1		1	AURKC	19	57743527	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	707541	57743527	1385456	269	80405											
SIGLEC1	6614	broad.mit.edu	37	chr20	3670819	3670819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtggagagtcaggctggCgagcggctcgctgtccactc	16	11	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr20:3670819C>T	uc002wja.2	-	18	4684	c.4684G>A	c.(4684-4686)GCC>ACC	p.A1562T	SIGLEC1_uc002wjb.1_Missense_Mutation_p.A201T|SIGLEC1_uc002wiz.3_Missense_Mutation_p.A1562T	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1562	Ig-like C2-type 16.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						GTCAGGCTGGCGAGCGGCTCG	0.657													T	3670819	C	T	3670819	3	4	144	1	0	0	0	0	1	0	0	0	14305	768	27	1	461	1	SIGLEC1	20	3670819	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08		3670819	59354701	270	80406											
LRRN4	164312	broad.mit.edu	37	chr20	6033406	6033406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtctgcccagctggggcGcagcaccgtcagcagcagca	15	14	2	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr20:6033406G>A	uc002wmo.2	-	2	264	c.40C>T	c.(40-42)CGC>TGC	p.R14C	LRRN4_uc002wmp.2_Missense_Mutation_p.R14C	NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	14						integral to membrane				skin(3)	3						CAGCTGGGGCGCAGCACCGTC	0.672													A	6033406	G	A	6033406	3	1	144	1	0	0	0	0	1	0	0	0	9037	1087	38	1	2198	1	LRRN4	20	6033406	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	2362587	6033406	56992114	271	80407											
PLCB1	23236	broad.mit.edu	37	chr20	8665706	8665706	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactatttcattaattcctcGcacaacacctacctcacagg	3	15	2	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr20:8665706G>A	uc002wnb.2	+	10	993	c.990G>A	c.(988-990)TCG>TCA	p.S330S	PLCB1_uc010zrb.1_Silent_p.S229S|PLCB1_uc002wna.2_Silent_p.S330S|PLCB1_uc002wnc.1_Silent_p.S229S	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	330	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						TTAATTCCTCGCACAACACCT	0.418													A	8665706	G	A	8665706	2	1	144	1	0	0	0	0	0	0	0	1	12027	1074	38	1		1	PLCB1	20	8665706	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	2632300	8665706	54359814	272	80408											
ISM1	140862	broad.mit.edu	37	chr20	13279607	13279607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacacagacagctgtgagcGctggatgagctgcaaaagcg	14	9	0	4			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr20:13279607G>A	uc010gce.1	+	6	902	c.896G>A	c.(895-897)CGC>CAC	p.R299H	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	299	AMOP.					extracellular region					0						AGCTGTGAGCGCTGGATGAGC	0.557													A	13279607	G	A	13279607	3	1	144	1	0	0	0	0	1	0	0	0	7860	1087	38	1	918	1	ISM1	20	13279607	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	4613901	13279607	49745913	273	80409											
KIF3B	9371	broad.mit.edu	37	chr20	30919058	30919058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggaagtcgggatcctcctCctcttcctcaggaacccctg	9	15	2	0	rs141907829	by1000genomes	TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr20:30919058C>T	uc002wxq.2	+	9	2347	c.2180C>T	c.(2179-2181)TCC>TTC	p.S727F	KIF3B_uc010ztw.1_Missense_Mutation_p.S665F	NM_004798	NP_004789	O15066	KIF3B_HUMAN	kinesin family member 3B	727	Poly-Ser.|Globular.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			central_nervous_system(3)|ovary(2)	5			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGATCCTCCTCCTCTTCCTCA	0.498													T	30919058	C	T	30919058	3	4	144	1	0	0	0	0	1	0	0	0	8301	855	30	4	2210	4	KIF3B	20	30919058	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	17639451	30919058	32106462	274	80410											
C20orf117	140710	broad.mit.edu	37	chr20	35467810	35467810	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatatagacgtcccgcatcTccagcatctcggcccgcagc	8	18	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr20:35467810T>C	uc002xgd.1	-	2	335	c.8A>G	c.(7-9)GAG>GGG	p.E3G		NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	3											0		Myeloproliferative disorder(115;0.00874)				GTCCCGCATCTCCAGCATCTC	0.627													C	35467810	T	C	35467810	3	2	144	1	0	0	0	0	1	0	0	0	2083	1551	54	3	4381	3	C20orf117	20	35467810	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	4548752	35467810	27557710	275	80411											
SLC32A1	140679	broad.mit.edu	37	chr20	37356767	37356767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgctcaagggcctcttcGcgctcgtcgcctacctcacc	10	18	3	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr20:37356767G>A	uc002xjc.2	+	2	1326	c.1063G>A	c.(1063-1065)GCG>ACG	p.A355T		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	355	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GGGCCTCTTCGCGCTCGTCGC	0.622													A	37356767	G	A	37356767	3	1	144	1	0	0	0	0	1	0	0	0	14565	1087	38	1	1069	1	SLC32A1	20	37356767	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	1888957	37356767	25668753	276	80412											
MMP9	4318	broad.mit.edu	37	chr20	44640827	44640827	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggggagctgtgcgtcttccCcttcactttcctgggtaagg	14	11	2	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr20:44640827C>A	uc002xqz.2	+	7	1068	c.1049C>A	c.(1048-1050)CCC>CAC	p.P350H		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	350	Fibronectin type-II 3.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TGCGTCTTCCCCTTCACTTTC	0.607													A	44640827	C	A	44640827	3	1	144	1	0	0	0	0	1	0	0	0	9669	623	22	5	1075	5	MMP9	20	44640827	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	7284060	44640827	18384693	277	80413											
ZNFX1	57169	broad.mit.edu	37	chr20	47866105	47866105	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtgaggatggtgatctgGgaaggcaggtattcctggca	17	5	1	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr20:47866105G>A	uc002xui.2	-	14	3703	c.3456C>T	c.(3454-3456)TCC>TCT	p.S1152S		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1152							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGGTGATCTGGGAAGGCAGGT	0.527													A	47866105	G	A	47866105	2	1	144	1	0	0	0	0	0	0	0	1	18202	1219	43	4		4	ZNFX1	20	47866105	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	3225278	47866105	15159415	278	80414											
PPP1R3D	5509	broad.mit.edu	37	chr20	58514447	58514447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtccgagcaagtgacacgCtccaggcacacgagctgccg	13	14	0	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr20:58514447C>T	uc002ybb.2	-	1	906	c.540G>A	c.(538-540)GAG>GAA	p.E180E	C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	180	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity				0	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			AAGTGACACGCTCCAGGCACA	0.662													T	58514447	C	T	58514447	2	4	144	1	0	0	0	0	0	0	0	1	12374	796	28	2		2	PPP1R3D	20	58514447	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	10648342	58514447	4511073	279	80415											
NTSR1	4923	broad.mit.edu	37	chr20	61341129	61341129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaccaagaagttcatcagCgccatctggctcgcctcggc	10	16	3	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr20:61341129C>T	uc002ydf.2	+	1	941	c.570C>T	c.(568-570)AGC>AGT	p.S190S		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	190	Helical; Name=4; (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			AGTTCATCAGCGCCATCTGGC	0.662													T	61341129	C	T	61341129	2	4	144	1	0	0	0	0	0	0	0	1	10710	767	27	1		1	NTSR1	20	61341129	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	2826682	61341129	1684391	280	80416											
NCAM2	4685	broad.mit.edu	37	chr21	22782720	22782720	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagaagagataaattagtctTacctgctaaaaacacgacca	7	8	1	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr21:22782720T>A	uc002yld.1	+	10	1571	c.1322T>A	c.(1321-1323)TTA>TAA	p.L441*	NCAM2_uc011acb.1_Nonsense_Mutation_p.L299*	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	441	Ig-like C2-type 5.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAATTAGTCTTACCTGCTAAA	0.313													A	22782720	T	A	22782720	4	1	144	1	0	0	0	0	0	1	0	0	10203	1764	61	5	1360	5	NCAM2	21	22782720	Nonsense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08		22782720	25347175	281	80417											
SEC14L3	266629	broad.mit.edu	37	chr22	30857304	30857304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcagacttacagacgccGgcctctgagcaggtgaggtt	16	10	1	4			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr22:30857304G>A	uc003ahy.2	-	11	1163	c.1074C>T	c.(1072-1074)GCC>GCT	p.A358A	SEC14L3_uc003ahz.2_Silent_p.A281A|SEC14L3_uc003aia.2_Silent_p.A299A|SEC14L3_uc003aib.2_Silent_p.A299A	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	SEC14-like 3	358	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			ovary(3)|pancreas(1)|skin(1)	5					Vitamin E(DB00163)	TACAGACGCCGGCCTCTGAGC	0.607													A	30857304	G	A	30857304	2	1	144	1	0	0	0	0	0	0	0	1	13983	1103	39	1		1	SEC14L3	22	30857304	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08		30857304	20447262	282	80418											
TST	7263	broad.mit.edu	37	chr22	37407215	37407215	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaggcggtgactcccttGcggcacgtggcaatgagagg	17	10	0	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr22:37407215G>A	uc003aqg.2	-	2	1447	c.747C>T	c.(745-747)CGC>CGT	p.R249R	TST_uc003aqh.2_Silent_p.R249R	NM_003312	NP_003303	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase	249	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity				0						TGACTCCCTTGCGGCACGTGG	0.627													A	37407215	G	A	37407215	2	1	144	1	0	0	0	0	0	0	0	1	16670	1306	46	2		2	TST	22	37407215	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	6549911	37407215	13897351	283	80419											
TMPRSS6	164656	broad.mit.edu	37	chr22	37499393	37499393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacatcccctccggctccGcttcctcgccatcacctccg	6	21	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr22:37499393G>A	uc003aqs.1	-	2	206	c.92C>T	c.(91-93)GCG>GTG	p.A31V	TMPRSS6_uc003aqt.1_Missense_Mutation_p.A22V|TMPRSS6_uc003aqu.2_Missense_Mutation_p.A22V	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	31	Cytoplasmic (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)|skin(1)	6						CTCCGGCTCCGCTTCCTCGCC	0.662													A	37499393	G	A	37499393	3	1	144	1	0	0	0	0	1	0	0	0	16248	1087	38	1	2411	1	TMPRSS6	22	37499393	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	92178	37499393	13805173	284	80420											
ELFN2	114794	broad.mit.edu	37	chr22	37769679	37769679	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgatggaaccactggaCgacacgctgcaggtcttgcg	12	12	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr22:37769679C>T	uc003asq.3	-	3	2682	c.1896G>A	c.(1894-1896)TCG>TCA	p.S632S		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	632	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					AACCACTGGACGACACGCTGC	0.642													T	37769679	C	T	37769679	2	4	144	1	0	0	0	0	0	0	0	1	5058	523	19	1		1	ELFN2	22	37769679	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	270286	37769679	13534887	285	80421											
SOX10	6663	broad.mit.edu	37	chr22	38373971	38373971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtgggcctggatggcggcGgtcccaccttgctcggcctc	15	14	0	0	rs143057951		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr22:38373971G>A	uc003aun.1	-	3	878	c.600C>T	c.(598-600)ACC>ACT	p.T200T	POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Silent_p.T200T	NM_006941	NP_008872	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	200						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity				0	Melanoma(58;0.045)					GGATGGCGGCGGTCCCACCTT	0.701													A	38373971	G	A	38373971	2	1	144	1	0	0	0	0	0	0	0	1	14941	1103	39	1		1	SOX10	22	38373971	Silent	SNP	G	TCGA-CD-8527-01A-11D-2340-08	604292	38373971	12930595	286	80422											
ZBED4	9889	broad.mit.edu	37	chr22	50280130	50280130	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccgtgcgctaaagcccttCgaggctgcgagccgggagat	15	12	0	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr22:50280130C>T	uc003bix.2	+	2	3290	c.2820C>T	c.(2818-2820)TTC>TTT	p.F940F		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	940						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TAAAGCCCTTCGAGGCTGCGA	0.592													T	50280130	C	T	50280130	2	4	144	1	0	0	0	0	0	0	0	1	17517	883	31	1		1	ZBED4	22	50280130	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	11906159	50280130	1024436	287	80423											
MLC1	23209	broad.mit.edu	37	chr22	50506890	50506890	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgggtaatccttaaacAtctccacgattctcatgatg	8	11	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr22:50506890A>T	uc003bjg.1	-	10	1139	c.866T>A	c.(865-867)ATG>AAG	p.M289K	MLC1_uc011arl.1_Missense_Mutation_p.M237K|MLC1_uc003bjh.1_Missense_Mutation_p.M289K|MLC1_uc011arm.1_Missense_Mutation_p.M259K|MLC1_uc011arn.1_Missense_Mutation_p.M210K|MLC1_uc011aro.1_Missense_Mutation_p.M255K	NM_139202	NP_631941	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with	289						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			pancreas(1)	1		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		ATCCTTAAACATCTCCACGAT	0.512													T	50506890	A	T	50506890	3	4	144	1	0	0	0	0	1	0	0	0	9612	217	8	5	279	5	MLC1	22	50506890	Missense_Mutation	SNP	A	TCGA-CD-8527-01A-11D-2340-08	226760	50506890	797676	288	80424											
CSF2RA	1438	broad.mit.edu	37	chrX	1407666	1407666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaggaagggagggtaccGctgctcagaatttctcctgt	12	11	2	1	rs148928173		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:1407666G>A	uc010nct.2	+	7	680	c.358G>A	c.(358-360)GCT>ACT	p.A120T	CSF2RA_uc011mhb.1_Missense_Mutation_p.A120T|CSF2RA_uc004cpq.2_Missense_Mutation_p.A120T|CSF2RA_uc004cpn.2_Missense_Mutation_p.A120T|CSF2RA_uc004cpo.2_Missense_Mutation_p.A120T|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Missense_Mutation_p.A120T|CSF2RA_uc010ncv.2_Missense_Mutation_p.A120T|CSF2RA_uc004cpr.2_Missense_Mutation_p.A120T	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	120	Extracellular (Potential).					extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GGAGGGTACCGCTGCTCAGAA	0.512													A	1407666	G	A	1407666	3	1	144	1	0	0	0	0	1	0	0	0	3934	1087	38	1	372	1	CSF2RA	23	1407666	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08		1407666	153862894	289	80425											
MAGEB3	4114	broad.mit.edu	37	chrX	30254145	30254145	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcagatcactgcaactaacaAgaaaaaagtatccttttcat	4	9	3	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:30254145A>T	uc004dca.1	+	5	841	c.104A>T	c.(103-105)AAG>ATG	p.K35M		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	35											0						GCAACTAACAAGAAAAAAGTA	0.517													T	30254145	A	T	30254145	3	4	144	1	0	0	0	0	1	0	0	0	9177	72	3	5	106	5	MAGEB3	23	30254145	Missense_Mutation	SNP	A	TCGA-CD-8527-01A-11D-2340-08	28846479	30254145	125016415	290	80426											
FAM47C	442444	broad.mit.edu	37	chrX	37028749	37028749	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtctccgcccagagcctcttGagactcgcgtatctcatctc	8	16	4	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:37028749G>C	uc004ddl.1	+	1	2280	c.2266G>C	c.(2266-2268)GAG>CAG	p.E756Q		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	756										ovary(3)	3						AGAGCCTCTTGAGACTCGCGT	0.622													C	37028749	G	C	37028749	3	2	144	1	0	0	0	0	1	0	0	0	5571	1291	45	5	2268	5	FAM47C	23	37028749	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	6774604	37028749	118241811	291	80427											
SSX5	6758	broad.mit.edu	37	chrX	48054788	48054788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtacaaaggcatcgtctcCgttcatggcaccgggagcac	11	14	2	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:48054788C>T	uc004dja.1	-	2	60	c.7G>A	c.(7-9)GGA>AGA	p.G3R	SSX5_uc004diz.1_Missense_Mutation_p.G3R	NM_175723	NP_783729	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5 isoform b	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding				0						GCATCGTCTCCGTTCATGGCA	0.532													T	48054788	C	T	48054788	3	4	144	1	0	0	0	0	1	0	0	0	15207	661	23	1	710	1	SSX5	23	48054788	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	11026039	48054788	107215772	292	80428											
CACNA1F	778	broad.mit.edu	37	chrX	49076976	49076976	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcttcctctttctccacaCcaggcacctgaggacaggaa	7	16	3	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:49076976C>A	uc004dnb.2	-	19	2437	c.2375G>T	c.(2374-2376)GGT>GTT	p.G792V	CACNA1F_uc010nip.2_Missense_Mutation_p.G781V	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	792	Cytoplasmic (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	TTTCTCCACACCAGGCACCTG	0.572													A	49076976	C	A	49076976	3	1	144	1	0	0	0	0	1	0	0	0	2543	507	18	5	3678	5	CACNA1F	23	49076976	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	1022188	49076976	106193584	293	80429											
TRO	7216	broad.mit.edu	37	chrX	54957106	54957106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggtggcctcagcaccagcGatggctttggcagtaggcct	15	11	1	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:54957106G>A	uc004dtq.2	+	12	4056	c.3949G>A	c.(3949-3951)GAT>AAT	p.D1317N	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.D848N|TRO_uc004dtw.2_Missense_Mutation_p.D920N|TRO_uc004dtx.2_Missense_Mutation_p.D700N	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	1317	51.|62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						CAGCACCAGCGATGGCTTTGG	0.557													A	54957106	G	A	54957106	3	1	144	1	0	0	0	0	1	0	0	0	16571	1058	37	1	3991	1	TRO	23	54957106	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	5880130	54957106	100313454	294	80430											
ZC3H12B	340554	broad.mit.edu	37	chrX	64722868	64722868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccagtcatggtacggagcGtgcctgaaaagatggagcag	15	8	1	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:64722868G>A	uc010nko.2	+	5	2266	c.2257G>A	c.(2257-2259)GTG>ATG	p.V753M		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	753							endonuclease activity|nucleic acid binding|zinc ion binding			lung(1)|kidney(1)|pancreas(1)	3						GGTACGGAGCGTGCCTGAAAA	0.507													A	64722868	G	A	64722868	3	1	144	1	0	0	0	0	1	0	0	0	17559	1145	40	1	2308	1	ZC3H12B	23	64722868	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	9765762	64722868	90547692	295	80431											
OPHN1	4983	broad.mit.edu	37	chrX	67339099	67339099	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcaggcatacctgaggtagAatttcaaggagctggtgatt	12	6	2	3			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:67339099A>T	uc004dww.3	-	16	1646	c.1352T>A	c.(1351-1353)TTC>TAC	p.F451Y	OPHN1_uc011mpg.1_Missense_Mutation_p.F451Y	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	451	Rho-GAP.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2						CCTGAGGTAGAATTTCAAGGA	0.398													T	67339099	A	T	67339099	3	4	144	1	0	0	0	0	1	0	0	0	10875	246	9	5	1092	5	OPHN1	23	67339099	Missense_Mutation	SNP	A	TCGA-CD-8527-01A-11D-2340-08	2616231	67339099	87931461	296	80432											
DACH2	117154	broad.mit.edu	37	chrX	86069814	86069814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taagcaagccaccactagtgAcagtggcctgaggatgttaa	11	9	0	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:86069814A>G	uc004eew.2	+	10	1831	c.1661A>G	c.(1660-1662)GAC>GGC	p.D554G	DACH2_uc004eex.2_Missense_Mutation_p.D541G|DACH2_uc010nmq.2_Missense_Mutation_p.D420G|DACH2_uc011mra.1_Missense_Mutation_p.D387G|DACH2_uc010nmr.2_Missense_Mutation_p.D335G|DACH2_uc004eey.2_Missense_Mutation_p.D247G|DACH2_uc004eez.2_Missense_Mutation_p.D237G	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	554	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						ACCACTAGTGACAGTGGCCTG	0.378													G	86069814	A	G	86069814	3	3	144	1	0	0	0	0	1	0	0	0	4221	275	10	3	1699	3	DACH2	23	86069814	Missense_Mutation	SNP	A	TCGA-CD-8527-01A-11D-2340-08	18730715	86069814	69200746	297	80433											
GUCY2F	2986	broad.mit.edu	37	chrX	108631760	108631760	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcggaccggcacttctggcaTgtgccgcatcttgaaagtgc	12	12	2	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:108631760T>A	uc004eod.3	-	15	3190	c.2914A>T	c.(2914-2916)ATG>TTG	p.M972L	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	972	Guanylate cyclase.|Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						ACTTCTGGCATGTGCCGCATC	0.468													A	108631760	T	A	108631760	3	1	144	1	0	0	0	0	1	0	0	0	6898	1464	51	5	432	5	GUCY2F	23	108631760	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	22561946	108631760	46638800	298	80434											
ACSL4	2182	broad.mit.edu	37	chrX	108911351	108911351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtaactgtcccagcacCacatgattctgtcagtccat	6	13	3	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:108911351C>T	uc004eoi.2	-	12	1922	c.1417G>A	c.(1417-1419)GGT>AGT	p.G473S	ACSL4_uc004eoj.2_Missense_Mutation_p.G432S|ACSL4_uc004eok.2_Missense_Mutation_p.G432S|ACSL4_uc010npp.1_Missense_Mutation_p.G473S	NM_022977	NP_075266	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	473	Cytoplasmic (Potential).				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(1)|lung(1)|ovary(1)	3					Icosapent(DB00159)|Troglitazone(DB00197)	GTCCCAGCACCACATGATTCT	0.453													T	108911351	C	T	108911351	3	4	144	1	0	0	0	0	1	0	0	0	179	594	21	4	742	4	ACSL4	23	108911351	Missense_Mutation	SNP	C	TCGA-CD-8527-01A-11D-2340-08	279591	108911351	46359209	299	80435											
GLUD2	2747	broad.mit.edu	37	chrX	120181760	120181760	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatggtggagggcttcttCgatcgcggcgccagcatcgt	15	10	1	1			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:120181760C>T	uc004eto.2	+	1	299	c.222C>T	c.(220-222)TTC>TTT	p.F74F		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	74					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)	AGGGCTTCTTCGATCGCGGCG	0.662													T	120181760	C	T	120181760	2	4	144	1	0	0	0	0	0	0	0	1	6477	883	31	1		1	GLUD2	23	120181760	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	11270409	120181760	35088800	300	80436											
ARHGAP36	158763	broad.mit.edu	37	chrX	130222707	130222707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagaccgcccattgctccGtgtgccccgggagaaggagg	15	13	0	2	rs145932994		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:130222707G>A	uc004evz.2	+	12	1937	c.1592G>A	c.(1591-1593)CGT>CAT	p.R531H	ARHGAP36_uc004ewa.2_Missense_Mutation_p.R519H|ARHGAP36_uc004ewb.2_Missense_Mutation_p.R500H|ARHGAP36_uc004ewc.2_Missense_Mutation_p.R395H	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	531					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3						CCATTGCTCCGTGTGCCCCGG	0.577													A	130222707	G	A	130222707	3	1	144	1	0	0	0	0	1	0	0	0	883	1145	40	1	1634	1	ARHGAP36	23	130222707	Missense_Mutation	SNP	G	TCGA-CD-8527-01A-11D-2340-08	10040947	130222707	25047853	301	80437											
ZNF75D	7626	broad.mit.edu	37	chrX	134426208	134426208	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttatgatgaagctcctcaccTctttcatatacaggctgggt	8	10	3	2			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:134426208T>A	uc004eyp.2	-	4	3258	c.603A>T	c.(601-603)AGA>AGT	p.R201S	ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'UTR|ZNF75D_uc004eyo.2_Intron	NM_007131	NP_009062	P51815	ZN75D_HUMAN	zinc finger protein 75	201					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GCTCCTCACCTCTTTCATATA	0.458													A	134426208	T	A	134426208	3	1	144	1	0	0	0	0	1	0	0	0	18131	1565	54	5	945	5	ZNF75D	23	134426208	Missense_Mutation	SNP	T	TCGA-CD-8527-01A-11D-2340-08	4203501	134426208	20844352	302	80438											
MAGEC2	51438	broad.mit.edu	37	chrX	141291507	141291507	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggaccctgtggaggaccCtgtggaggactactgggaat	16	8	0	0			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:141291507C>T	uc004fbu.1	-	3	615	c.267G>A	c.(265-267)CAG>CAA	p.Q89Q		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	89	Ser-rich.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					gtggaggaccctgtggaggac	0.423										HNSCC(46;0.14)			T	141291507	C	T	141291507	2	4	144	1	0	0	0	0	0	0	0	1	9181	680	24	4		4	MAGEC2	23	141291507	Silent	SNP	C	TCGA-CD-8527-01A-11D-2340-08	6865299	141291507	13979053	303	80439											
SLC45A1	50651	broad.mit.edu	37	chr1	8390936	8390936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaccttggccatcccggaCgcagccggaggagggggtcc	16	14	0	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr1:8390936C>T	uc001apb.2	+	4	1383	c.1383C>T	c.(1381-1383)GAC>GAT	p.D461D	SLC45A1_uc001apc.2_Silent_p.D159D	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	461					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCCCGGACGCAGCCGGAG	0.607													T	8390936	C	T	8390936	2	4	145	1	0	0	0	0	0	0	0	1	14640	535	19	1		1	SLC45A1	1	8390936	Silent	SNP	C	TCGA-CD-8528-01A-11D-2340-08		8390936	240859685	1	80440											
PRAMEF12	390999	broad.mit.edu	37	chr1	12837182	12837182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcccccttggagacagtcGtaatgaccgaatgcctgctg	12	12	0	2			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr1:12837182G>A	uc001aui.2	+	3	919	c.892G>A	c.(892-894)GTA>ATA	p.V298I		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	298										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGACAGTCGTAATGACCGA	0.542													A	12837182	G	A	12837182	3	1	145	1	0	0	0	0	1	0	0	0	12428	1145	40	1	902	1	PRAMEF12	1	12837182	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08	4446246	12837182	236413439	2	80441											
ATP13A2	23400	broad.mit.edu	37	chr1	17323520	17323520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccggctcatacctgtgCgggtcaccactgccaggacg	11	17	2	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr1:17323520C>T	uc001baa.2	-	12	1380	c.1190G>A	c.(1189-1191)CGC>CAC	p.R397H	ATP13A2_uc001bab.2_Missense_Mutation_p.R392H|ATP13A2_uc001bac.2_Missense_Mutation_p.R392H|ATP13A2_uc009vpa.1_Missense_Mutation_p.R110H|ATP13A2_uc001bad.1_Missense_Mutation_p.R110H	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	397	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CATACCTGTGCGGGTCACCAC	0.527													T	17323520	C	T	17323520	3	4	145	1	0	0	0	0	1	0	0	0	1124	768	27	1	2660	1	ATP13A2	1	17323520	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	4486338	17323520	231927101	3	80442											
COL11A1	1301	broad.mit.edu	37	chr1	103488310	103488310	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacttacgcttgtttctgtAatatcagtttctgctggtac	7	9	3	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr1:103488310A>G	uc001dul.2	-	8	1551	c.1233T>C	c.(1231-1233)ATT>ATC	p.I411I	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Silent_p.I423I|COL11A1_uc001dun.2_Silent_p.I372I|COL11A1_uc009weh.2_Intron	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	411	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGTTTCTGTAATATCAGTTT	0.338													G	103488310	A	G	103488310	2	3	145	1	0	0	0	0	0	0	0	1	3667	358	13	3		3	COL11A1	1	103488310	Silent	SNP	A	TCGA-CD-8528-01A-11D-2340-08	86164790	103488310	145762311	4	80443											
MAN1A2	10905	broad.mit.edu	37	chr1	117963257	117963257	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctacttgcagcatattacCtatcaggagaggaggtgagc	12	9	1	2			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr1:117963257C>A	uc001ehd.1	+	5	1562	c.841C>A	c.(841-843)CTA>ATA	p.L281I	MAN1A2_uc009whg.1_Missense_Mutation_p.L71I	NM_006699	NP_006690	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	281	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity				0	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		AGCATATTACCTATCAGGAGA	0.363													A	117963257	C	A	117963257	3	1	145	1	0	0	0	0	1	0	0	0	9211	680	24	5	859	5	MAN1A2	1	117963257	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	14474947	117963257	131287364	5	80444											
HSD3B2	3284	broad.mit.edu	37	chr1	119964589	119964589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatggcccactccatacccGtacagcaaaaagcttgctga	7	14	0	1	rs114527791	by1000genomes	TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr1:119964589G>A	uc001ehs.2	+	3	1238	c.465G>A	c.(463-465)CCG>CCA	p.P155P	HSD3B2_uc001eht.2_Silent_p.P155P|HSD3B2_uc001ehu.2_Intron	NM_000198	NP_000189	P26439	3BHS2_HUMAN	3 beta-hydroxysteroid dehydrogenase 2	155			P -> L (in AH2; nonsalt-wasting form).		androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CTCCATACCCGTACAGCAAAA	0.498													A	119964589	G	A	119964589	2	1	145	1	0	0	0	0	0	0	0	1	7391	1132	40	1		1	HSD3B2	1	119964589	Silent	SNP	G	TCGA-CD-8528-01A-11D-2340-08	2001332	119964589	129286032	6	80445											
FMO5	2330	broad.mit.edu	37	chr1	146696558	146696558	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccaagccttcttctacgcAgcacttgatggaagagagcc	9	12	2	2			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr1:146696558A>G	uc001epi.2	-	2	453	c.64T>C	c.(64-66)TGC>CGC	p.C22R	FMO5_uc001eph.3_Missense_Mutation_p.C22R|FMO5_uc001epj.2_Missense_Mutation_p.C22R|FMO5_uc001epk.3_Missense_Mutation_p.C22R	NM_001461	NP_001452	P49326	FMO5_HUMAN	flavin containing monooxygenase 5 isoform 1	22						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			ovary(3)	3	all_hematologic(923;0.0487)					TCTTCTACGCAGCACTTGATG	0.502													G	146696558	A	G	146696558	3	3	145	1	0	0	0	0	1	0	0	0	5958	188	7	3	1712	3	FMO5	1	146696558	Missense_Mutation	SNP	A	TCGA-CD-8528-01A-11D-2340-08	26731969	146696558	102554063	7	80446											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150532570	150532570	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagctctccacattgcccCctggtggtacaggcccggct	11	16	1	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr1:150532570C>T	uc001eux.2	+	19	3359	c.3123C>T	c.(3121-3123)CCC>CCT	p.P1041P	ADAMTSL4_uc009wlw.2_Silent_p.P1064P|ADAMTSL4_uc010pcg.1_Silent_p.P1002P|ADAMTSL4_uc009wlx.2_Silent_p.P204P	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	1041	PLAC.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CACATTGCCCCCTGGTGGTAC	0.617											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	150532570	C	T	150532570	2	4	145	1	0	0	0	0	0	0	0	1	277	610	22	4		4	ADAMTSL4	1	150532570	Silent	SNP	C	TCGA-CD-8528-01A-11D-2340-08	3836012	150532570	98718051	8	80447											
FLG	2312	broad.mit.edu	37	chr1	152277422	152277422	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acgcggaatgcctgagtgtcTggagctgtctgctgactgct	14	10	2	2			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr1:152277422T>A	uc001ezu.1	-	3	9976	c.9940A>T	c.(9940-9942)AGA>TGA	p.R3314*		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3314	Filaggrin 20.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGAGTGTCTGGAGCTGTCT	0.562									Ichthyosis				A	152277422	T	A	152277422	4	1	145	1	0	0	0	0	0	1	0	0	5922	1588	55	5	2249	5	FLG	1	152277422	Nonsense_Mutation	SNP	T	TCGA-CD-8528-01A-11D-2340-08	1744852	152277422	96973199	9	80448											
FLG	2312	broad.mit.edu	37	chr1	152285533	152285533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttcctacttgtcctgggcCccgatgattgtccctggccc	11	15	0	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr1:152285533C>T	uc001ezu.1	-	3	1865	c.1829G>A	c.(1828-1830)GGG>GAG	p.G610E	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	610	Filaggrin 3.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGGGCCCCGATGATTG	0.572									Ichthyosis				T	152285533	C	T	152285533	3	4	145	1	0	0	0	0	1	0	0	0	5922	623	22	4	10360	4	FLG	1	152285533	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	8111	152285533	96965088	10	80449											
DEDD	9191	broad.mit.edu	37	chr1	161092952	161092952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctctccctcgggctggccGcttgctacacatctgaggac	12	15	2	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr1:161092952G>A	uc001fxz.2	-	5	666	c.493C>T	c.(493-495)CGG>TGG	p.R165W	NIT1_uc001fxw.2_Intron|DEDD_uc009wty.2_Missense_Mutation_p.R165W|DEDD_uc001fya.2_Missense_Mutation_p.R165W|DEDD_uc001fyb.2_Missense_Mutation_p.R165W|DEDD_uc010pkb.1_Missense_Mutation_p.R122W|DEDD_uc001fyc.2_Missense_Mutation_p.R5W	NM_001039712	NP_001034801	O75618	DEDD_HUMAN	death effector domain-containing protein	165					apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding				0	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CGGGCTGGCCGCTTGCTACAC	0.547													A	161092952	G	A	161092952	3	1	145	1	0	0	0	0	1	0	0	0	4384	1086	38	1	471	1	DEDD	1	161092952	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08	8807419	161092952	88157669	11	80450											
SLC9A11	284525	broad.mit.edu	37	chr1	173556830	173556830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttagtgaattcacagaaCgaagaggatctataatgcca	8	6	2	3			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr1:173556830C>T	uc001giz.2	-	5	920	c.497G>A	c.(496-498)CGT>CAT	p.R166H	SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	166					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						ATTCACAGAACGAAGAGGATC	0.294													T	173556830	C	T	173556830	3	4	145	1	0	0	0	0	1	0	0	0	14711	536	19	1	2973	1	SLC9A11	1	173556830	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	12463878	173556830	75693791	12	80451											
SRGAP2	23380	broad.mit.edu	37	chr1	206566910	206566910	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttccttttcagcgtcaagcCaagtacacggagaataagct	8	10	2	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr1:206566910C>G	uc001hdy.2	+	4	783	c.450C>G	c.(448-450)GCC>GCG	p.A150A	SRGAP2_uc009xbt.2_Silent_p.A74A|SRGAP2_uc010prt.1_Silent_p.A74A|SRGAP2_uc001hdx.2_Silent_p.A150A|SRGAP2_uc010pru.1_Silent_p.A74A|SRGAP2_uc010prv.1_Silent_p.A74A	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	237					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)					AGCGTCAAGCCAAGTACACGG	0.413													G	206566910	C	G	206566910	2	3	145	1	0	0	0	0	0	0	0	1	15145	581	21	5		5	SRGAP2	1	206566910	Silent	SNP	C	TCGA-CD-8528-01A-11D-2340-08	33010080	206566910	42683711	13	80452											
CENPF	1063	broad.mit.edu	37	chr1	214819047	214819047	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtttggaaaaggactcacAggcactgtctttgacaaaat	10	7	2	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr1:214819047A>G	uc001hkm.2	+	13	6308	c.6134A>G	c.(6133-6135)CAG>CGG	p.Q2045R		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2141	Potential.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGGACTCACAGGCACTGTCT	0.428													G	214819047	A	G	214819047	3	3	145	1	0	0	0	0	1	0	0	0	3231	188	7	3	6180	3	CENPF	1	214819047	Missense_Mutation	SNP	A	TCGA-CD-8528-01A-11D-2340-08	8252137	214819047	34431574	14	80453											
ZNF124	7678	broad.mit.edu	37	chr1	247320073	247320073	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catagggtttctgtgcaataTgagttttctcgtgtttctga	10	6	3	2			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr1:247320073T>A	uc001ick.2	-	4	990	c.851A>T	c.(850-852)CAT>CTT	p.H284L	ZNF124_uc001ici.2_Intron|ZNF124_uc001icj.1_Missense_Mutation_p.H222L	NM_003431	NP_003422	Q15973	ZN124_HUMAN	zinc finger protein 124	284	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			CTGTGCAATATGAGTTTTCTC	0.443													A	247320073	T	A	247320073	3	1	145	1	0	0	0	0	1	0	0	0	17717	1464	51	5	208	5	ZNF124	1	247320073	Missense_Mutation	SNP	T	TCGA-CD-8528-01A-11D-2340-08	32501026	247320073	1930548	15	80454											
OR2T1	26696	broad.mit.edu	37	chr1	248569964	248569964	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccttctgcaattcccgggaGattaaccacttcttctgtga	7	13	3	2			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr1:248569964G>T	uc010pzm.1	+	1	669	c.669G>T	c.(667-669)GAG>GAT	p.E223D		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	223	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTCCCGGGAGATTAACCACT	0.507													T	248569964	G	T	248569964	3	4	145	1	0	0	0	0	1	0	0	0	11016	933	33	5	671	5	OR2T1	1	248569964	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08	1249891	248569964	680657	16	80455											
TPO	7173	broad.mit.edu	37	chr2	1507810	1507810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcttccagtgtctctgcgCggacccctacgagttaggag	13	13	1	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr2:1507810C>T	uc002qww.2	+	14	2568	c.2477C>T	c.(2476-2478)GCG>GTG	p.A826V	TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.A769V|TPO_uc002qwr.2_Missense_Mutation_p.A826V|TPO_uc002qwx.2_Missense_Mutation_p.A769V|TPO_uc010yio.1_Missense_Mutation_p.A653V|TPO_uc010yip.1_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	826	Extracellular (Potential).|EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGTCTCTGCGCGGACCCCTAC	0.572													T	1507810	C	T	1507810	3	4	145	1	0	0	0	0	1	0	0	0	16407	768	27	1	2527	1	TPO	2	1507810	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08		1507810	241691563	17	80456											
C2orf44	80304	broad.mit.edu	37	chr2	24261172	24261172	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctaccaaaattagtaatAgttggtctgtcaagaaacat	6	7	2	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr2:24261172A>C	uc002rep.2	-	2	1324	c.1193T>G	c.(1192-1194)CTA>CGA	p.L398R	C2orf44_uc010eya.2_Missense_Mutation_p.L398R	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	hypothetical protein LOC80304 isoform 1	398							protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATTAGTAATAGTTGGTCTGT	0.353													C	24261172	A	C	24261172	3	2	145	1	0	0	0	0	1	0	0	0	2168	420	15	5	984	5	C2orf44	2	24261172	Missense_Mutation	SNP	A	TCGA-CD-8528-01A-11D-2340-08	22753362	24261172	218938201	18	80457											
NCOA1	8648	broad.mit.edu	37	chr2	24964833	24964833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacccccgtcttcctcagGgtgctccacagcaattcccc	8	18	2	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr2:24964833G>A	uc002rfk.2	+	17	3742	c.3484G>A	c.(3484-3486)GGT>AGT	p.G1162S	NCOA1_uc010eye.2_Missense_Mutation_p.G1162S|NCOA1_uc002rfi.2_Missense_Mutation_p.G1011S|NCOA1_uc002rfj.2_Missense_Mutation_p.G1162S|NCOA1_uc002rfl.2_Missense_Mutation_p.G1162S|NCOA1_uc010eyf.2_Missense_Mutation_p.G55S	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	1162									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCCTCAGGGTGCTCCACA	0.522			T	PAX3	alveolar rhadomyosarcoma								A	24964833	G	A	24964833	3	1	145	1	0	0	0	0	1	0	0	0	10228	1232	43	4	3542	4	NCOA1	2	24964833	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08	703661	24964833	218234540	19	80458											
C2orf39	92749	broad.mit.edu	37	chr2	26677608	26677608	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccacagtgatcccttcCtccaagcagaacctctggga	8	15	1	3			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr2:26677608C>T	uc002rhg.2	+	15	2087	c.2013C>T	c.(2011-2013)TCC>TCT	p.S671S		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	671											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATCCCTTCCTCCAAGCAGA	0.592													T	26677608	C	T	26677608	2	4	145	1	0	0	0	0	0	0	0	1	2164	668	24	4		4	C2orf39	2	26677608	Silent	SNP	C	TCGA-CD-8528-01A-11D-2340-08	1712775	26677608	216521765	20	80459											
TTN	7273	broad.mit.edu	37	chr2	179417913	179417913	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatatattttcctgtatcaTtgcgagtaacttgaggaatg	9	5	1	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr2:179417913T>C	uc010zfg.1	-	284	82234	c.82010A>G	c.(82009-82011)AAT>AGT	p.N27337S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N21032S|TTN_uc010zfi.1_Missense_Mutation_p.N20965S|TTN_uc010zfj.1_Missense_Mutation_p.N20840S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28264							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTGTATCATTGCGAGTAAC	0.408													C	179417913	T	C	179417913	3	2	145	1	0	0	0	0	1	0	0	0	16732	1493	52	3	18377	3	TTN	2	179417913	Missense_Mutation	SNP	T	TCGA-CD-8528-01A-11D-2340-08	152740305	179417913	63781460	21	80460											
CRYGD	1421	broad.mit.edu	37	chr2	208988895	208988895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccatccactgctggtggtCggcatagtcgccgcggcgca	14	15	0	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr2:208988895C>T	uc002vcn.3	-	2	309	c.193G>A	c.(193-195)GAC>AAC	p.D65N		NM_006891	NP_008822	P07320	CRGD_HUMAN	crystallin, gamma D	65	Beta/gamma crystallin 'Greek key' 2.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens				0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TGCTGGTGGTCGGCATAGTCG	0.662													T	208988895	C	T	208988895	3	4	145	1	0	0	0	0	1	0	0	0	3917	884	31	1	339	1	CRYGD	2	208988895	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	29570982	208988895	34210478	22	80461											
SCG2	7857	broad.mit.edu	37	chr2	224463718	224463718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgggcaagtggctttcatCgccattttctttttgctgaa	9	10	2	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr2:224463718C>T	uc002vnm.2	-	2	416	c.283G>A	c.(283-285)GAT>AAT	p.D95N		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	95					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			ovary(1)	1		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGGCTTTCATCGCCATTTTCT	0.463													T	224463718	C	T	224463718	3	4	145	1	0	0	0	0	1	0	0	0	13891	884	31	1	1574	1	SCG2	2	224463718	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	15474823	224463718	18735655	23	80462											
CNTN6	27255	broad.mit.edu	37	chr3	1414148	1414148	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggagtggctcattttgaaaGgattggaggagtaagttact	14	3	1	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr3:1414148G>T	uc003boz.2	+	13	1925	c.1658G>T	c.(1657-1659)AGG>ATG	p.R553M	CNTN6_uc011asj.1_Missense_Mutation_p.R481M|CNTN6_uc003bpa.2_Missense_Mutation_p.R553M	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	553	Ig-like C2-type 6.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CATTTTGAAAGGATTGGAGGA	0.358													T	1414148	G	T	1414148	3	4	145	1	0	0	0	0	1	0	0	0	3645	1000	35	5	1704	5	CNTN6	3	1414148	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08		1414148	196608282	24	80463											
CPNE9	151835	broad.mit.edu	37	chr3	9756630	9756630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtgtacgactgggaccGggatggaaggtagaactgcc	16	7	0	2			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr3:9756630G>A	uc003bsd.2	+	10	854	c.683G>A	c.(682-684)CGG>CAG	p.R228Q		NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	copine-like protein	228	C2 2.									ovary(2)	2	Medulloblastoma(99;0.227)					GACTGGGACCGGGATGGAAGG	0.453													A	9756630	G	A	9756630	3	1	145	1	0	0	0	0	1	0	0	0	3819	1116	39	1	721	1	CPNE9	3	9756630	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08	8342482	9756630	188265800	25	80464											
BSN	8927	broad.mit.edu	37	chr3	49680203	49680203	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacccagggccagcctgcccCcagcaaggggacacctaaga	11	17	0	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr3:49680203C>A	uc003cxe.3	+	3	1250	c.1136C>A	c.(1135-1137)CCC>CAC	p.P379H		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	379					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAGCCTGCCCCCAGCAAGGGG	0.652													A	49680203	C	A	49680203	3	1	145	1	0	0	0	0	1	0	0	0	1530	623	22	5	1146	5	BSN	3	49680203	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	39923573	49680203	148342227	26	80465											
PCOLCE2	26577	broad.mit.edu	37	chr3	142567080	142567080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttcgtttggttcagcagCggagaacatggccatgaagc	12	9	2	2			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr3:142567080C>T	uc003evd.2	-	3	623	c.427G>A	c.(427-429)GCT>ACT	p.A143T		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	143	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			ovary(2)|skin(1)	3						GGTTCAGCAGCGGAGAACATG	0.458													T	142567080	C	T	142567080	3	4	145	1	0	0	0	0	1	0	0	0	11595	768	27	1	848	1	PCOLCE2	3	142567080	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	92886877	142567080	55455350	27	80466											
MME	4311	broad.mit.edu	37	chr3	154832866	154832866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcggaggctggttgaaaCgtaatgtcattcccgagacc	12	10	1	2			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr3:154832866C>T	uc010hvr.1	+	4	491	c.280C>T	c.(280-282)CGT>TGT	p.R94C	MME_uc003fab.1_Missense_Mutation_p.R94C|MME_uc003fac.1_Missense_Mutation_p.R94C|MME_uc003fad.1_Missense_Mutation_p.R94C|MME_uc003fae.1_Missense_Mutation_p.R94C	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	94	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CTGGTTGAAACGTAATGTCAT	0.448													T	154832866	C	T	154832866	3	4	145	1	0	0	0	0	1	0	0	0	9645	536	19	1	290	1	MME	3	154832866	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	12265786	154832866	43189564	28	80467											
FGF12	2257	broad.mit.edu	37	chr3	192053209	192053209	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctagccttcactccttGgatggccactacacgcaggc	11	14	1	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr3:192053209G>A	uc003fsx.2	-	3	1181	c.355C>T	c.(355-357)CAA>TAA	p.Q119*	FGF12_uc003fsy.2_Nonsense_Mutation_p.Q57*	NM_021032	NP_066360	P61328	FGF12_HUMAN	fibroblast growth factor 12 isoform 1	119					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			ovary(1)|skin(1)|lung(1)|pancreas(1)	4	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TTCACTCCTTGGATGGCCACT	0.458													A	192053209	G	A	192053209	4	1	145	1	0	0	0	0	0	1	0	0	5841	1357	47	4	388	4	FGF12	3	192053209	Nonsense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08	37220343	192053209	5969221	29	80468											
KIAA1530	57654	broad.mit.edu	37	chr4	1345537	1345537	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacgaatgctcggagtctggCagaaaggaagagagaagagg	16	6	1	4			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr4:1345537C>G	uc003gde.3	+	4	911	c.464C>G	c.(463-465)GCA>GGA	p.A155G		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	155											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			CGGAGTCTGGCAGAAAGGAAG	0.373											OREG0016033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	1345537	C	G	1345537	3	3	145	1	0	0	0	0	1	0	0	0	8241	710	25	5	474	5	KIAA1530	4	1345537	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08		1345537	189808739	30	80469											
FRAS1	80144	broad.mit.edu	37	chr4	79396677	79396677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatatgccatcgtcctgtgtCgcaccgagcaaggcaccgcc	10	15	0	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr4:79396677C>T	uc003hlb.2	+	54	8208	c.7768C>T	c.(7768-7770)CGC>TGC	p.R2590C		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2589	Calx-beta 1.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						CGTCCTGTGTCGCACCGAGCA	0.577													T	79396677	C	T	79396677	3	4	145	1	0	0	0	0	1	0	0	0	6042	884	31	1	8057	1	FRAS1	4	79396677	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	78051140	79396677	111757599	31	80470											
LEF1	51176	broad.mit.edu	37	chr4	108991888	108991888	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttctttccgtgctaattcAtaatatttagcctgctcttc	4	11	3	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr4:108991888A>G	uc003hyt.1	-	9	1702	c.1047T>C	c.(1045-1047)TAT>TAC	p.Y349Y	LEF1_uc011cfj.1_Silent_p.Y206Y|LEF1_uc011cfk.1_Silent_p.Y253Y|LEF1_uc003hyu.1_Silent_p.Y321Y|LEF1_uc003hyv.1_Silent_p.Y321Y|LEF1_uc010imb.1_RNA|LEF1_uc003hys.1_RNA|LEF1_uc010ima.1_Silent_p.Y37Y|LEF1_uc003hyw.1_RNA	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1 isoform 1	349	HMG box.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		GTGCTAATTCATAATATTTAG	0.418													G	108991888	A	G	108991888	2	3	145	1	0	0	0	0	0	0	0	1	8714	224	8	3		3	LEF1	4	108991888	Silent	SNP	A	TCGA-CD-8528-01A-11D-2340-08	29595211	108991888	82162388	32	80471											
HAND2	9464	broad.mit.edu	37	chr4	174450016	174450016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatgtagctggtggccaggCgcagggtcttgattttggag	17	7	1	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr4:174450016C>T	uc003ith.1	-	1	1363	c.425G>A	c.(424-426)CGC>CAC	p.R142H	NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Silent_p.A107A|HAND2_uc010ire.1_Missense_Mutation_p.R142H	NM_021973	NP_068808	P61296	HAND2_HUMAN	basic helix-loop-helix transcription factor	142	Helix-loop-helix motif.				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			skin(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GGTGGCCAGGCGCAGGGTCTT	0.612													T	174450016	C	T	174450016	3	4	145	1	0	0	0	0	1	0	0	0	6950	768	27	1	236	1	HAND2	4	174450016	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	65458128	174450016	16704260	33	80472											
FAT1	2195	broad.mit.edu	37	chr4	187557880	187557880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggggccctcatccttgtcGgtggctatgacgtgatagag	14	9	1	3			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr4:187557880G>A	uc003izf.2	-	5	4019	c.3831C>T	c.(3829-3831)ACC>ACT	p.T1277T		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1277	Extracellular (Potential).|Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CATCCTTGTCGGTGGCTATGA	0.493										HNSCC(5;0.00058)			A	187557880	G	A	187557880	2	1	145	1	0	0	0	0	0	0	0	1	5689	1103	39	1		1	FAT1	4	187557880	Silent	SNP	G	TCGA-CD-8528-01A-11D-2340-08	13107864	187557880	3596396	34	80473											
UGT3A1	133688	broad.mit.edu	37	chr5	35965682	35965682	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgtcaaatgtagactgcaTgtcccattggctcctggaga	11	9	1	2			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr5:35965682T>C	uc003jjv.1	-	4	806	c.649A>G	c.(649-651)ATG>GTG	p.M217V	UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.M217V|UGT3A1_uc011cor.1_Missense_Mutation_p.M183V|UGT3A1_uc003jjy.1_Missense_Mutation_p.M163V	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	217	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTAGACTGCATGTCCCATTGG	0.448													C	35965682	T	C	35965682	3	2	145	1	0	0	0	0	1	0	0	0	16960	1464	51	3	1020	3	UGT3A1	5	35965682	Missense_Mutation	SNP	T	TCGA-CD-8528-01A-11D-2340-08		35965682	144949578	35	80474											
C5orf42	65250	broad.mit.edu	37	chr5	37170433	37170433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgaagttgatctgttgcaGcttgaataaaacaaaaattg	8	5	1	3			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr5:37170433G>A	uc011cpa.1	-	33	6403	c.6172C>T	c.(6172-6174)CTG>TTG	p.L2058L	C5orf42_uc011coy.1_Silent_p.L558L|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Silent_p.L1133L|C5orf42_uc003jkr.1_Silent_p.L91L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	2058										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)			ATCTGTTGCAGCTTGAATAAA	0.338													A	37170433	G	A	37170433	2	1	145	1	0	0	0	0	0	0	0	1	2301	985	34	2		2	C5orf42	5	37170433	Silent	SNP	G	TCGA-CD-8528-01A-11D-2340-08	1204751	37170433	143744827	36	80475											
CHSY3	337876	broad.mit.edu	37	chr5	129241195	129241195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccacccctgcctgtcatcGcgctaccgggtgtggacgac	12	17	1	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr5:129241195G>A	uc003kvd.2	+	1	673	c.673G>A	c.(673-675)GCG>ACG	p.A225T		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	225	Lumenal (Potential).|Pro-rich.					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GCCTGTCATCGCGCTACCGGG	0.612													A	129241195	G	A	129241195	3	1	145	1	0	0	0	0	1	0	0	0	3413	1087	38	1	675	1	CHSY3	5	129241195	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08	92070762	129241195	51674065	37	80476											
SLC36A2	153201	broad.mit.edu	37	chr5	150696616	150696616	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccaccagggagatgaccAggtccaggcgggggatgagg	18	10	0	3			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr5:150696616A>C	uc003lty.2	-	10	1344	c.1214T>G	c.(1213-1215)CTG>CGG	p.L405R	GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Missense_Mutation_p.L207R	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	solute carrier family 36, member 2	405	Helical; (Potential).				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGATGACCAGGTCCAGGCG	0.607													C	150696616	A	C	150696616	3	2	145	1	0	0	0	0	1	0	0	0	14594	188	7	5	241	5	SLC36A2	5	150696616	Missense_Mutation	SNP	A	TCGA-CD-8528-01A-11D-2340-08	21455421	150696616	30218644	38	80477											
EEF1E1	9521	broad.mit.edu	37	chr6	8097522	8097522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaacagtgtgtggatgtcaTttttactggagtgcccatct	10	8	3	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr6:8097522T>C	uc003mxz.2	-	2	340	c.266A>G	c.(265-267)AAT>AGT	p.N89S	EEF1E1_uc011dic.1_Missense_Mutation_p.N89S	NM_004280	NP_004271	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1	89	GST C-terminal.				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus					0	Ovarian(93;0.0398)					GTGGATGTCATTTTTACTGGA	0.403													C	8097522	T	C	8097522	3	2	145	1	0	0	0	0	1	0	0	0	4927	1493	52	3	310	3	EEF1E1	6	8097522	Missense_Mutation	SNP	T	TCGA-CD-8528-01A-11D-2340-08		8097522	163017545	39	80478											
HIVEP1	3096	broad.mit.edu	37	chr6	12125570	12125570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatgctctaaatttgtcGttatagaacctataagtgaa	8	6	1	2			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr6:12125570G>A	uc003nac.2	+	4	5721	c.5542G>A	c.(5542-5544)GTT>ATT	p.V1848I	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1848					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TAAATTTGTCGTTATAGAACC	0.338													A	12125570	G	A	12125570	3	1	145	1	0	0	0	0	1	0	0	0	7186	1145	40	1	5552	1	HIVEP1	6	12125570	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08	4028048	12125570	158989497	40	80479											
CRISP3	10321	broad.mit.edu	37	chr6	49704128	49704128	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcatgtttctggcaggGggagatactgctctcctcag	12	10	4	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr6:49704128G>C	uc003ozs.2	-	3	180	c.165C>G	c.(163-165)CCC>CCG	p.P55P		NM_006061	NP_006052	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3 precursor	55					innate immune response	proteinaceous extracellular matrix|specific granule				skin(2)	2	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTCTGGCAGGGGGAGATACTG	0.473													C	49704128	G	C	49704128	2	2	145	1	0	0	0	0	0	0	0	1	3881	1219	43	5		5	CRISP3	6	49704128	Silent	SNP	G	TCGA-CD-8528-01A-11D-2340-08	37578558	49704128	121410939	41	80480											
REV3L	5980	broad.mit.edu	37	chr6	111652933	111652933	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatcatgcctaacttggtaAagtaaatctggaggtactct	8	7	3	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr6:111652933A>G	uc003puy.3	-	24	8303	c.7980T>C	c.(7978-7980)CTT>CTC	p.L2660L	REV3L_uc003pux.3_Silent_p.L2582L|REV3L_uc003puz.3_Silent_p.L2582L|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2660					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TAACTTGGTAAAGTAAATCTG	0.363								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					G	111652933	A	G	111652933	2	3	145	1	0	0	0	0	0	0	0	1	13240	1	1	3		3	REV3L	6	111652933	Silent	SNP	A	TCGA-CD-8528-01A-11D-2340-08	61948805	111652933	59462134	42	80481											
PDE1C	5137	broad.mit.edu	37	chr7	31917586	31917586	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttcactcgtattaccttTaatgcctcaataacagctgg	5	11	2	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr7:31917586T>G	uc003tcm.1	-	5	958	c.489A>C	c.(487-489)TTA>TTC	p.L163F	PDE1C_uc003tcn.1_Missense_Mutation_p.L163F|PDE1C_uc003tco.1_Missense_Mutation_p.L223F|PDE1C_uc003tcr.2_Missense_Mutation_p.L163F|PDE1C_uc003tcs.2_Missense_Mutation_p.L163F	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	163					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			GTATTACCTTTAATGCCTCAA	0.333													G	31917586	T	G	31917586	3	3	145	1	0	0	0	0	1	0	0	0	11635	1751	61	5	1467	5	PDE1C	7	31917586	Missense_Mutation	SNP	T	TCGA-CD-8528-01A-11D-2340-08		31917586	127221077	43	80482											
KIAA1324L	222223	broad.mit.edu	37	chr7	86542424	86542424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacccgactgttcagaacCgagggcacaggcacggcatg	13	12	1	2			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr7:86542424C>T	uc011kha.1	-	14	2013	c.1828G>A	c.(1828-1830)GGT>AGT	p.G610S	KIAA1324L_uc003uif.1_Missense_Mutation_p.G370S|KIAA1324L_uc011kgz.1_Missense_Mutation_p.G496S|KIAA1324L_uc003uie.2_Missense_Mutation_p.G443S	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	610	Extracellular (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)					TGTTCAGAACCGAGGGCACAG	0.507													T	86542424	C	T	86542424	3	4	145	1	0	0	0	0	1	0	0	0	8224	652	23	1	1297	1	KIAA1324L	7	86542424	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	54624838	86542424	72596239	44	80483											
OR2F2	135948	broad.mit.edu	37	chr7	143632642	143632642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagttatttttctccctggCcttgggtgggattgagtttg	12	8	1	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr7:143632642C>T	uc011ktv.1	+	1	317	c.317C>T	c.(316-318)GCC>GTC	p.A106V		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F,	106	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	Melanoma(164;0.0903)					TTCTCCCTGGCCTTGGGTGGG	0.547													T	143632642	C	T	143632642	3	4	145	1	0	0	0	0	1	0	0	0	10997	739	26	2	319	2	OR2F2	7	143632642	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	57090218	143632642	15506021	45	80484											
PDIA4	9601	broad.mit.edu	37	chr7	148701057	148701057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatagcggtcgctggggacGtcgttggcagtggcgtccat	16	9	0	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr7:148701057G>A	uc003wff.2	-	10	2049	c.1767C>T	c.(1765-1767)GAC>GAT	p.D589D		NM_004911	NP_004902	P13667	PDIA4_HUMAN	protein disulfide isomerase A4 precursor	589	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			lung(5)|ovary(1)	6	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CGCTGGGGACGTCGTTGGCAG	0.577													A	148701057	G	A	148701057	2	1	145	1	0	0	0	0	0	0	0	1	11670	1136	40	1		1	PDIA4	7	148701057	Silent	SNP	G	TCGA-CD-8528-01A-11D-2340-08	5068415	148701057	10437606	46	80485											
GALNTL5	168391	broad.mit.edu	37	chr7	151684285	151684285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actatcacctggaaacttttCggggaaaggttaaaataata	8	6	1	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr7:151684285C>T	uc003wkp.2	+	5	800	c.577C>T	c.(577-579)CGG>TGG	p.R193W	GALNTL5_uc003wkq.2_Intron|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Missense_Mutation_p.R82W	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	193	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GGAAACTTTTCGGGGAAAGGT	0.378													T	151684285	C	T	151684285	3	4	145	1	0	0	0	0	1	0	0	0	6224	875	31	1	591	1	GALNTL5	7	151684285	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	2983228	151684285	7454378	47	80486											
PTPRN2	5799	broad.mit.edu	37	chr7	157931093	157931093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctactccatggtccacgCcttgcatcaggccagccatc	9	16	1	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr7:157931093C>T	uc003wno.2	-	7	1146	c.1025G>A	c.(1024-1026)GGC>GAC	p.G342D	PTPRN2_uc003wnp.2_Missense_Mutation_p.G325D|PTPRN2_uc003wnq.2_Missense_Mutation_p.G342D|PTPRN2_uc003wnr.2_Missense_Mutation_p.G304D|PTPRN2_uc011kwa.1_Missense_Mutation_p.G365D	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	342	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ATGGTCCACGCCTTGCATCAG	0.672													T	157931093	C	T	157931093	3	4	145	1	0	0	0	0	1	0	0	0	12808	739	26	2	2090	2	PTPRN2	7	157931093	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	6246808	157931093	1207570	48	80487											
PTPRN2	5799	broad.mit.edu	37	chr7	157959936	157959936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggtaggtcagcgcagaCgtgtgggccacataggtcag	18	8	2	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr7:157959936C>T	uc003wno.2	-	6	718	c.597G>A	c.(595-597)ACG>ACA	p.T199T	PTPRN2_uc003wnp.2_Silent_p.T182T|PTPRN2_uc003wnq.2_Silent_p.T199T|PTPRN2_uc003wnr.2_Silent_p.T161T|PTPRN2_uc011kwa.1_Silent_p.T222T	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	199	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCAGCGCAGACGTGTGGGCCA	0.622													T	157959936	C	T	157959936	2	4	145	1	0	0	0	0	0	0	0	1	12808	523	19	1		1	PTPRN2	7	157959936	Silent	SNP	C	TCGA-CD-8528-01A-11D-2340-08	28843	157959936	1178727	49	80488											
SLC25A37	51312	broad.mit.edu	37	chr8	23429083	23429083	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatctcaggcgggctggcCggggccctcgccgcggccgc	16	17	2	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr8:23429083C>T	uc003xdo.2	+	4	885	c.732C>T	c.(730-732)GCC>GCT	p.A244A	SLC25A37_uc003xdp.2_RNA|SLC25A37_uc010ltz.2_RNA|SLC25A37_uc003xdq.2_RNA|SLC25A37_uc003xdr.1_RNA|uc003xds.2_5'Flank	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25, member 37	244	Solcar 3.|Helical; Name=5; (Potential).				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		GCGGGCTGGCCGGGGCCCTCG	0.647													T	23429083	C	T	23429083	2	4	145	1	0	0	0	0	0	0	0	1	14501	639	23	1		1	SLC25A37	8	23429083	Silent	SNP	C	TCGA-CD-8528-01A-11D-2340-08		23429083	122934939	50	80489											
KCNU1	157855	broad.mit.edu	37	chr8	36698509	36698509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaatacaagtccctctttaCggatggtttctggtaccaat	8	10	2	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr8:36698509C>T	uc010lvw.2	+	16	1778	c.1691C>T	c.(1690-1692)ACG>ATG	p.T564M	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	564	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCCCTCTTTACGGATGGTTTC	0.403													T	36698509	C	T	36698509	3	4	145	1	0	0	0	0	1	0	0	0	8093	536	19	1	1753	1	KCNU1	8	36698509	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	13269426	36698509	109665513	51	80490											
MCM4	4173	broad.mit.edu	37	chr8	48889314	48889314	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgatttcctgacagtgacTgggaagaccgtgcgcttgct	13	9	0	4			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr8:48889314T>C	uc003xqk.1	+	17	2663	c.2568T>C	c.(2566-2568)ACT>ACC	p.T856T	MCM4_uc003xql.1_Silent_p.T856T|MCM4_uc011ldi.1_Silent_p.T843T	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	856					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TGACAGTGACTGGGAAGACCG	0.493													C	48889314	T	C	48889314	2	2	145	1	0	0	0	0	0	0	0	1	9389	1567	55	3		3	MCM4	8	48889314	Silent	SNP	T	TCGA-CD-8528-01A-11D-2340-08	12190805	48889314	97474708	52	80491											
NSMAF	8439	broad.mit.edu	37	chr8	59535981	59535981	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggcaggatgctctgtgAagctacagtatcataaacag	10	8	3	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr8:59535981A>T	uc003xtt.2	-	8	673	c.459T>A	c.(457-459)CTT>CTA	p.L153L	NSMAF_uc011lee.1_Silent_p.L184L|NSMAF_uc003xtu.2_Silent_p.L153L	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	153					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)				ATGCTCTGTGAAGCTACAGTA	0.338													T	59535981	A	T	59535981	2	4	145	1	0	0	0	0	0	0	0	1	10674	233	9	5		5	NSMAF	8	59535981	Silent	SNP	A	TCGA-CD-8528-01A-11D-2340-08	10646667	59535981	86828041	53	80492											
EFR3A	23167	broad.mit.edu	37	chr8	132997219	132997219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatttgccaatgttccatcGttgtggaatcatggcactgg	10	8	1	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr8:132997219G>A	uc003yte.2	+	16	1982	c.1781G>A	c.(1780-1782)CGT>CAT	p.R594H		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A	594						plasma membrane	binding			ovary(3)|breast(1)|central_nervous_system(1)	5	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			ATGTTCCATCGTTGTGGAATC	0.383													A	132997219	G	A	132997219	3	1	145	1	0	0	0	0	1	0	0	0	4958	1145	40	1	1843	1	EFR3A	8	132997219	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08	73461238	132997219	13366803	54	80493											
ZNF658	26149	broad.mit.edu	37	chr9	40774433	40774433	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtattcaacagcggtggttTtgtcacaggatgtcccatat	10	8	2	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr9:40774433T>A	uc004abs.2	-	5	994	c.842A>T	c.(841-843)AAA>ATA	p.K281I	ZNF658_uc010mmm.1_Missense_Mutation_p.K281I|ZNF658_uc010mmn.1_Missense_Mutation_p.K281I	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	zinc finger protein 658	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGCGGTGGTTTTGTCACAGGA	0.373													A	40774433	T	A	40774433	3	1	145	1	0	0	0	0	1	0	0	0	18066	1841	64	5	2341	5	ZNF658	9	40774433	Missense_Mutation	SNP	T	TCGA-CD-8528-01A-11D-2340-08		40774433	100438998	55	80494											
PHF2	5253	broad.mit.edu	37	chr9	96428068	96428068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgggatgagtatgagtacGtgtcggatgacggtgagctc	17	6	0	4			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr9:96428068G>A	uc004aub.2	+	15	2185	c.2038G>A	c.(2038-2040)GTG>ATG	p.V680M	PHF2_uc011lug.1_Missense_Mutation_p.V563M|PHF2_uc004auc.2_Missense_Mutation_p.V99M	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	680					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GTATGAGTACGTGTCGGATGA	0.587													A	96428068	G	A	96428068	3	1	145	1	0	0	0	0	1	0	0	0	11830	1145	40	1	2096	1	PHF2	9	96428068	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08	55653635	96428068	44785363	56	80495											
ANKS6	203286	broad.mit.edu	37	chr9	101533322	101533322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaatttaacaggcctgaCgggtgtctacaagaataagg	12	6	1	2	rs138782444	by1000genomes	TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr9:101533322C>T	uc004ayu.2	-	10	1849	c.1828G>A	c.(1828-1830)GTC>ATC	p.V610I	ANKS6_uc004ayt.2_Missense_Mutation_p.V309I|ANKS6_uc004ayv.1_Missense_Mutation_p.V72I|ANKS6_uc004ayw.1_Missense_Mutation_p.V192I|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	610										ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				ACAGGCCTGACGGGTGTCTAC	0.577													T	101533322	C	T	101533322	3	4	145	1	0	0	0	0	1	0	0	0	692	536	19	1	811	1	ANKS6	9	101533322	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	5105254	101533322	39680109	57	80496											
TNC	3371	broad.mit.edu	37	chr9	117825304	117825304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgggatttccatggaacGcaggctgccaggaaccgtga	14	11	0	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr9:117825304G>A	uc004bjj.3	-	13	4287	c.3925C>T	c.(3925-3927)CGT>TGT	p.R1309C	TNC_uc010mvf.2_Missense_Mutation_p.R1309C	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1309	Fibronectin type-III 8.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						TCCATGGAACGCAGGCTGCCA	0.592													A	117825304	G	A	117825304	3	1	145	1	0	0	0	0	1	0	0	0	16267	1087	38	1	2744	1	TNC	9	117825304	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08	16291982	117825304	23388127	58	80497											
ASTN2	23245	broad.mit.edu	37	chr9	119976939	119976939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcgctcttctgggggatgCggcgacgcttctgccaacgt	14	12	3	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr9:119976939C>T	uc004bjs.1	-	3	814	c.713G>A	c.(712-714)CGC>CAC	p.R238H	ASTN2_uc004bjr.1_Missense_Mutation_p.R238H|ASTN2_uc004bjt.1_Missense_Mutation_p.R238H	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	238	Cytoplasmic (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						CTGGGGGATGCGGCGACGCTT	0.637													T	119976939	C	T	119976939	3	4	145	1	0	0	0	0	1	0	0	0	1065	768	27	1	3465	1	ASTN2	9	119976939	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	2151635	119976939	21236492	59	80498											
CACNA1B	774	broad.mit.edu	37	chr9	140777327	140777327	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcatggacttcgtggtcgtCctcacagggtaggcaagctg	14	10	2	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr9:140777327C>T	uc004cog.2	+	3	667	c.522C>T	c.(520-522)GTC>GTT	p.V174V	uc004cof.1_RNA	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	174	Helical; Name=S3 of repeat I; (Potential).|I.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCGTGGTCGTCCTCACAGGGT	0.612													T	140777327	C	T	140777327	2	4	145	1	0	0	0	0	0	0	0	1	2539	842	30	4		4	CACNA1B	9	140777327	Silent	SNP	C	TCGA-CD-8528-01A-11D-2340-08	20800388	140777327	436104	60	80499											
OSBPL5	114879	broad.mit.edu	37	chr11	3115056	3115056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgatgctggtgctaccccCgaagaagggctgcggggcca	16	11	0	2			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr11:3115056C>T	uc001lxk.2	-	16	1887	c.1729G>A	c.(1729-1731)GGG>AGG	p.G577R	OSBPL5_uc010qxq.1_Missense_Mutation_p.G488R|OSBPL5_uc009ydw.2_Missense_Mutation_p.G509R|OSBPL5_uc001lxl.2_Missense_Mutation_p.G509R|OSBPL5_uc009ydx.2_Missense_Mutation_p.G601R|OSBPL5_uc001lxj.2_Missense_Mutation_p.G31R	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	oxysterol-binding protein-like protein 5 isoform	577					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GTGCTACCCCCGAAGAAGGGC	0.627													T	3115056	C	T	3115056	3	4	145	1	0	0	0	0	1	0	0	0	11280	652	23	1	938	1	OSBPL5	11	3115056	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08		3115056	131891460	61	80500											
OR4A47	403253	broad.mit.edu	37	chr11	48510483	48510483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgctcattgtagtgaccGtaactgtcagtgagaccctg	10	11	2	2	rs142333570	byFrequency	TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr11:48510483G>A	uc010rhx.1	+	1	139	c.139G>A	c.(139-141)GTA>ATA	p.V47I		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	47	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGTAGTGACCGTAACTGTCAG	0.418													A	48510483	G	A	48510483	3	1	145	1	0	0	0	0	1	0	0	0	11042	1145	40	1	141	1	OR4A47	11	48510483	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08	45395427	48510483	86496033	62	80501											
OR5M3	219482	broad.mit.edu	37	chr11	56237295	56237295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccttccttctgctgagcGcattcgcagaatggcaatga	10	12	1	3			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr11:56237295G>A	uc010rjk.1	-	1	679	c.679C>T	c.(679-681)CGC>TGC	p.R227C		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TCTGCTGAGCGCATTCGCAGA	0.418													A	56237295	G	A	56237295	3	1	145	1	0	0	0	0	1	0	0	0	11175	1087	38	1	246	1	OR5M3	11	56237295	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08	7726812	56237295	78769221	63	80502											
DSCAML1	57453	broad.mit.edu	37	chr11	117651260	117651260	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccggcagcgttctccgcGgtgcagaagtagtcattgtc	13	11	2	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr11:117651260G>A	uc001prh.1	-	2	494	c.492C>T	c.(490-492)ACC>ACT	p.T164T	DSCAML1_uc001pri.1_5'UTR	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	104	Extracellular (Potential).|Ig-like C2-type 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CGTTCTCCGCGGTGCAGAAGT	0.622													A	117651260	G	A	117651260	2	1	145	1	0	0	0	0	0	0	0	1	4769	1103	39	1		1	DSCAML1	11	117651260	Silent	SNP	G	TCGA-CD-8528-01A-11D-2340-08	61413965	117651260	17355256	64	80503											
CACNA1C	775	broad.mit.edu	37	chr12	2788847	2788847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaacaacaccgccctgggtCgcctccctcgccccgccggc	9	23	0	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr12:2788847C>T	uc009zdu.1	+	44	5786	c.5473C>T	c.(5473-5475)CGC>TGC	p.R1825C	CACNA1C_uc009zdv.1_Missense_Mutation_p.R1774C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1777C|CACNA1C_uc001qkc.2_Missense_Mutation_p.R1796C|CACNA1C_uc001qke.2_Missense_Mutation_p.R1766C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1785C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1777C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1796C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1783C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1818C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1785C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1825C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1777C|CACNA1C_uc001qko.2_Missense_Mutation_p.R1797C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1777C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1794C|CACNA1C_uc001qku.2_Missense_Mutation_p.R1777C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1805C|CACNA1C_uc001qks.2_Missense_Mutation_p.R1777C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1796C|CACNA1C_uc001qki.1_Missense_Mutation_p.R1513C|CACNA1C_uc001qkj.1_Missense_Mutation_p.R1513C|CACNA1C_uc001qkk.1_Missense_Mutation_p.R1513C|CACNA1C_uc001qkm.1_Missense_Mutation_p.R1502C|CACNA1C_uc010sea.1_Missense_Mutation_p.R468C|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.R95C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1825	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGCCCTGGGTCGCCTCCCTCG	0.677													T	2788847	C	T	2788847	3	4	145	1	0	0	0	0	1	0	0	0	2540	884	31	1	5878	1	CACNA1C	12	2788847	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08		2788847	131063048	65	80504											
ACRBP	84519	broad.mit.edu	37	chr12	6748124	6748124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaggggtgctcaccttcCgattgcggtttctcatcaga	13	11	3	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr12:6748124C>T	uc001qpu.1	-	9	1553	c.1505G>A	c.(1504-1506)CGG>CAG	p.R502Q	LPAR5_uc001qps.2_5'Flank|LPAR5_uc010sff.1_5'UTR|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Missense_Mutation_p.R469Q	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	proacrosin binding protein sp32 precursor	502						acrosomal vesicle|extracellular region				central_nervous_system(1)	1						GCTCACCTTCCGATTGCGGTT	0.532													T	6748124	C	T	6748124	3	4	145	1	0	0	0	0	1	0	0	0	170	652	23	1	134	1	ACRBP	12	6748124	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	3959277	6748124	127103771	66	80505											
CDCA3	83461	broad.mit.edu	37	chr12	6958779	6958779	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agggcttgtcggagctctggCtggccacaggggtttctgtg	17	9	2	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr12:6958779C>G	uc001qrg.2	-	4	622	c.494G>C	c.(493-495)AGC>ACC	p.S165T	CDCA3_uc001qre.2_Missense_Mutation_p.S165T|uc001qrf.1_5'Flank|USP5_uc001qri.3_5'Flank|USP5_uc001qrh.3_5'Flank	NM_031299	NP_112589	Q99618	CDCA3_HUMAN	cell division cycle associated 3	165					cell division|mitosis	cytosol					0						GGAGCTCTGGCTGGCCACAGG	0.512													G	6958779	C	G	6958779	3	3	145	1	0	0	0	0	1	0	0	0	3087	797	28	5	324	5	CDCA3	12	6958779	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	210655	6958779	126893116	67	80506											
ABCC9	10060	broad.mit.edu	37	chr12	22001093	22001093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaagatctaccttcgtcttCgtcctccatctgggctttgg	8	12	3	1	rs143685061		TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr12:22001093C>T	uc001rfi.1	-	23	2877	c.2857G>A	c.(2857-2859)GAA>AAA	p.E953K	ABCC9_uc001rfh.2_Missense_Mutation_p.E953K|ABCC9_uc001rfj.1_Missense_Mutation_p.E917K	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	953	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCTTCGTCTTCGTCCTCCATC	0.418													T	22001093	C	T	22001093	3	4	145	1	0	0	0	0	1	0	0	0	59	893	31	1	1998	1	ABCC9	12	22001093	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	15042314	22001093	111850802	68	80507											
C12orf40	283461	broad.mit.edu	37	chr12	40114807	40114807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtttccacagttgcagtgCaattcagcccacattttgca	7	12	1	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr12:40114807C>T	uc001rmc.2	+	13	1880	c.1713C>T	c.(1711-1713)TGC>TGT	p.C571C	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	hypothetical protein LOC283461	571								p.C571G(1)		ovary(6)	6						AGTTGCAGTGCAATTCAGCCC	0.388													T	40114807	C	T	40114807	2	4	145	1	0	0	0	0	0	0	0	1	1686	718	25	2		2	C12orf40	12	40114807	Silent	SNP	C	TCGA-CD-8528-01A-11D-2340-08	18113714	40114807	93737088	69	80508											
CNTN1	1272	broad.mit.edu	37	chr12	41387064	41387064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaacagaattaaaacagaCggtgctggtatgtatataca	8	6	1	2	rs147943881		TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr12:41387064C>T	uc001rmm.1	+	17	2219	c.2106C>T	c.(2104-2106)GAC>GAT	p.D702D	CNTN1_uc001rmn.1_Silent_p.D691D	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	702					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTAAAACAGACGGTGCTGGTA	0.368													T	41387064	C	T	41387064	2	4	145	1	0	0	0	0	0	0	0	1	3640	535	19	1		1	CNTN1	12	41387064	Silent	SNP	C	TCGA-CD-8528-01A-11D-2340-08	1272257	41387064	92464831	70	80509											
TMTC2	160335	broad.mit.edu	37	chr12	83251144	83251144	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgatgtcggggccagtctcTtctttctcctctccttgctc	8	16	4	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr12:83251144T>G	uc001szt.2	+	2	871	c.439T>G	c.(439-441)TTC>GTC	p.F147V	TMTC2_uc001szr.1_Missense_Mutation_p.F147V|TMTC2_uc001szs.1_Missense_Mutation_p.F147V|TMTC2_uc010suk.1_Intron	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	147	Helical; (Potential).					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						GGCCAGTCTCTTCTTTCTCCT	0.552													G	83251144	T	G	83251144	3	3	145	1	0	0	0	0	1	0	0	0	16258	1609	56	5	445	5	TMTC2	12	83251144	Missense_Mutation	SNP	T	TCGA-CD-8528-01A-11D-2340-08	41864080	83251144	50600751	71	80510											
DNAH10	196385	broad.mit.edu	37	chr12	124416550	124416550	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggccaggtctctttttatCgggcatatccctaatatctg	9	10	2	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr12:124416550C>T	uc001uft.3	+	75	12862	c.12837C>T	c.(12835-12837)ATC>ATT	p.I4279I	DNAH10_uc001ufu.3_Silent_p.I192I	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4279					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTCTTTTTATCGGGCATATCC	0.478													T	124416550	C	T	124416550	2	4	145	1	0	0	0	0	0	0	0	1	4598	874	31	1		1	DNAH10	12	124416550	Silent	SNP	C	TCGA-CD-8528-01A-11D-2340-08	41165406	124416550	9435345	72	80511											
NUPL1	9818	broad.mit.edu	37	chr13	25883397	25883397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccccaggaatagcaacaaCtataactacaggattaactc	6	11	0	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr13:25883397C>T	uc001uqi.2	+	3	509	c.263C>T	c.(262-264)ACT>ATT	p.T88I	NUPL1_uc001uqg.1_Missense_Mutation_p.T88I|NUPL1_uc001uqj.2_Intron	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1 isoform a	88	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore					0		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		ATAGCAACAACTATAACTACA	0.318													T	25883397	C	T	25883397	3	4	145	1	0	0	0	0	1	0	0	0	10774	565	20	4	273	4	NUPL1	13	25883397	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08		25883397	89286481	73	80512											
TUBGCP3	10426	broad.mit.edu	37	chr13	113212621	113212621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgggctgactgggcactcCgatcttggtagctcagggga	15	10	3	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr13:113212621C>T	uc001vse.1	-	5	624	c.437G>A	c.(436-438)CGG>CAG	p.R146Q	TUBGCP3_uc010tjq.1_Missense_Mutation_p.R136Q|TUBGCP3_uc001vsf.2_Missense_Mutation_p.R146Q|TUBGCP3_uc001vsg.1_Missense_Mutation_p.R146Q	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	146					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CTGGGCACTCCGATCTTGGTA	0.602													T	113212621	C	T	113212621	3	4	145	1	0	0	0	0	1	0	0	0	16764	652	23	1	2358	1	TUBGCP3	13	113212621	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	87329224	113212621	1957257	74	80513											
MAPK1IP1L	93487	broad.mit.edu	37	chr14	55529793	55529793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggcgccaggaatgggagGgcagtatcctacccctaata	13	10	0	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr14:55529793G>A	uc001xbq.1	+	3	640	c.476G>A	c.(475-477)GGG>GAG	p.G159E		NM_144578	NP_653179	Q8NDC0	MISSL_HUMAN	MAPK-interacting and spindle-stabilizing	159	Pro-rich.										0						GGAATGGGAGGGCAGTATCCT	0.597													A	55529793	G	A	55529793	3	1	145	1	0	0	0	0	1	0	0	0	9278	1232	43	4	482	4	MAPK1IP1L	14	55529793	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08		55529793	51819747	75	80514											
PLD4	122618	broad.mit.edu	37	chr14	105398406	105398406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttcggcaagggcgtgcgCgtgcgcctgctggtcggctg	18	13	0	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr14:105398406C>T	uc001ypu.1	+	9	1257	c.1116C>T	c.(1114-1116)CGC>CGT	p.R372R	PLD4_uc010tyl.1_Silent_p.R379R	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	phospholipase D4	372					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|skin(1)	2		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	AGGGCGTGCGCGTGCGCCTGC	0.711													T	105398406	C	T	105398406	2	4	145	1	0	0	0	0	0	0	0	1	12048	755	27	1		1	PLD4	14	105398406	Silent	SNP	C	TCGA-CD-8528-01A-11D-2340-08	49868613	105398406	1951134	76	80515											
ATP10A	57194	broad.mit.edu	37	chr15	25928567	25928567	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagaagattagataccactGgtcaatcatggtagatgcag	10	6	2	4			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr15:25928567G>T	uc010ayu.2	-	17	3464	c.3358C>A	c.(3358-3360)CAG>AAG	p.Q1120K		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1120	Helical; (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGATACCACTGGTCAATCATG	0.498													T	25928567	G	T	25928567	3	4	145	1	0	0	0	0	1	0	0	0	1116	1357	47	5	1161	5	ATP10A	15	25928567	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08		25928567	76602825	77	80516											
CSPG4	1464	broad.mit.edu	37	chr15	75968312	75968312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcttccctgcttccgtcCgggcggcctcggggacactg	14	16	0	0	rs149670354		TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr15:75968312C>T	uc002baw.2	-	10	6641	c.6548G>A	c.(6547-6549)CGG>CAG	p.R2183Q		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	2183	Extracellular (Potential).|Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						TGCTTCCGTCCGGGCGGCCTC	0.697													T	75968312	C	T	75968312	3	4	145	1	0	0	0	0	1	0	0	0	3960	652	23	1	424	1	CSPG4	15	75968312	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	50039745	75968312	26563080	78	80517											
HBQ1	3049	broad.mit.edu	37	chr16	231013	231013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctggtaaccctcgcccGgcactaccccggagacttca	9	18	1	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr16:231013G>A	uc002cfz.2	+	3	486	c.335G>A	c.(334-336)CGG>CAG	p.R112Q		NM_005331	NP_005322	P09105	HBAT_HUMAN	theta 1 globin	112						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				ACCCTCGCCCGGCACTACCCC	0.701													A	231013	G	A	231013	3	1	145	1	0	0	0	0	1	0	0	0	6986	1116	39	1	345	1	HBQ1	16	231013	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08		231013	90123740	79	80518											
ACSM3	6296	broad.mit.edu	37	chr16	20793081	20793081	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagcaccaactgtatacCgaatgcttgtacagaatgat	8	9	1	2			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr16:20793081C>T	uc002dhr.2	+	7	1178	c.991C>T	c.(991-993)CGA>TGA	p.R331*	ACSM3_uc002dhq.2_Nonsense_Mutation_p.R331*|ACSM3_uc010vba.1_Nonsense_Mutation_p.R360*|ERI2_uc002dhs.2_Intron	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	SA hypertension-associated homolog isoform 1	331					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			ovary(1)	1						AACTGTATACCGAATGCTTGT	0.378													T	20793081	C	T	20793081	4	4	145	1	0	0	0	0	0	1	0	0	185	644	23	1	1013	1	ACSM3	16	20793081	Nonsense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	20562068	20793081	69561672	80	80519											
MYST1	84148	broad.mit.edu	37	chr16	31131779	31131779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcgcagagcagcctgagCgcaagatcactcgcaaccaa	10	14	1	3			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr16:31131779C>T	uc002eay.2	+	3	424	c.406C>T	c.(406-408)CGC>TGC	p.R136C	MYST1_uc002eax.2_Missense_Mutation_p.R136C	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	MYST histone acetyltransferase 1 isoform 1	136					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding			ovary(1)	1						GCAGCCTGAGCGCAAGATCAC	0.567													T	31131779	C	T	31131779	3	4	145	1	0	0	0	0	1	0	0	0	10102	768	27	1	416	1	MYST1	16	31131779	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	10338698	31131779	59222974	81	80520											
ABCC11	85320	broad.mit.edu	37	chr16	48247385	48247385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactgcagacttggaattcGtgagacctttgactgcaata	9	9	1	3	rs148839428		TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr16:48247385G>A	uc002eff.1	-	9	1675	c.1325C>T	c.(1324-1326)ACG>ATG	p.T442M	ABCC11_uc002efg.1_Missense_Mutation_p.T442M|ABCC11_uc002efh.1_Missense_Mutation_p.T442M|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	442	Cytoplasmic (Potential).|ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CTTGGAATTCGTGAGACCTTT	0.552									Cerumen_Type				A	48247385	G	A	48247385	3	1	145	1	0	0	0	0	1	0	0	0	51	1145	40	1	2907	1	ABCC11	16	48247385	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08	17115606	48247385	42107368	82	80521											
NEURL4	84461	broad.mit.edu	37	chr17	7231011	7231011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgtgcgctccacgcccaCgcggtccccttcaccaagct	8	19	1	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr17:7231011C>T	uc002gga.1	-	2	482	c.475G>A	c.(475-477)GTG>ATG	p.V159M	NEURL4_uc002ggb.1_Missense_Mutation_p.V159M|NEURL4_uc002ggc.1_5'Flank	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	159	NHR 1.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						TCCACGCCCACGCGGTCCCCT	0.657													T	7231011	C	T	7231011	3	4	145	1	0	0	0	0	1	0	0	0	10347	536	19	1	4325	1	NEURL4	17	7231011	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08		7231011	73964199	83	80522											
TP53	7157	broad.mit.edu	37	chr17	7578479	7578479	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacgcgggtgccgggcggggGtgtggaatcaacccacagct	18	11	1	0	rs28934874		TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr17:7578479G>T	uc002gim.2	-	5	645	c.451C>A	c.(451-453)CCC>ACC	p.P151T	TP53_uc002gig.1_Missense_Mutation_p.P151T|TP53_uc002gih.2_Missense_Mutation_p.P151T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P19T|TP53_uc010cng.1_Missense_Mutation_p.P19T|TP53_uc002gii.1_Missense_Mutation_p.P19T|TP53_uc010cnh.1_Missense_Mutation_p.P151T|TP53_uc010cni.1_Missense_Mutation_p.P151T|TP53_uc002gij.2_Missense_Mutation_p.P151T|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P58T|TP53_uc002gio.2_Missense_Mutation_p.P19T|TP53_uc010vug.1_Missense_Mutation_p.P112T	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	151	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> R (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151S(61)|p.P151H(25)|p.P151T(13)|p.P151P(12)|p.P151A(10)|p.P152fs*18(9)|p.0?(7)|p.P151fs*30(7)|p.P151L(6)|p.P151R(6)|p.T150fs*16(3)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P58A(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P19A(1)|p.P152fs*14(1)|p.T150_P151delTP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGGCGGGGGTGTGGAATCA	0.612		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7578479	G	T	7578479	3	4	145	1	0	0	0	0	1	0	0	0	16378	1261	44	5	847	5	TP53	17	7578479	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08	347468	7578479	73616731	84	80523											
ULK2	9706	broad.mit.edu	37	chr17	19689396	19689396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaccacaggctcctgccGgagctacaacaaaaagttta	7	14	0	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr17:19689396G>A	uc002gwm.3	-	21	2614	c.2105C>T	c.(2104-2106)CCG>CTG	p.P702L	ULK2_uc002gwn.2_Missense_Mutation_p.P702L	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	702					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GGCTCCTGCCGGAGCTACAAC	0.498													A	19689396	G	A	19689396	3	1	145	1	0	0	0	0	1	0	0	0	16973	1116	39	1	1033	1	ULK2	17	19689396	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08	12110917	19689396	61505814	85	80524											
TAOK1	57551	broad.mit.edu	37	chr17	27844528	27844528	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaggagtggctttcaaagCagaaggagaatatacagcat	11	6	1	2			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr17:27844528C>T	uc002hdz.1	+	16	1956	c.1762C>T	c.(1762-1764)CAG>TAG	p.Q588*	TAOK1_uc010wbe.1_Intron|TAOK1_uc010wbf.1_Nonsense_Mutation_p.Q588*	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	588	Potential.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)			GCTTTCAAAGCAGAAGGAGAA	0.388													T	27844528	C	T	27844528	4	4	145	1	0	0	0	0	0	1	0	0	15544	711	25	2	1820	2	TAOK1	17	27844528	Nonsense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	8155132	27844528	53350682	86	80525											
ADAP2	55803	broad.mit.edu	37	chr17	29281526	29281526	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttcaagaaaaggtggttcGccctggattgccatgagcgg	13	9	1	2			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr17:29281526G>T	uc002hfx.2	+	9	1114	c.835G>T	c.(835-837)GCC>TCC	p.A279S	ADAP2_uc010csk.2_Missense_Mutation_p.A285S|ADAP2_uc002hfy.2_Missense_Mutation_p.A278S|ADAP2_uc010csl.2_RNA	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	centaurin-alpha 2 protein	279	PH 2.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		ovary(1)	1						AAGGTGGTTCGCCCTGGATTG	0.537													T	29281526	G	T	29281526	3	4	145	1	0	0	0	0	1	0	0	0	280	1087	38	5	869	5	ADAP2	17	29281526	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08	1436998	29281526	51913684	87	80526											
EZH1	2145	broad.mit.edu	37	chr17	40864502	40864503	+	Frame_Shift_Del	DEL	CT	CT	-													gtctgacagcgagagttagcCtctgagaagggaagaaataa							TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr17:40864502_40864503delCT	uc002iaz.2	-	12	1350_1351	c.1205_1206delAG	c.(1204-1206)GAGfs	p.E402fs	EZH1_uc002iba.2_Frame_Shift_Del_p.E393fs|EZH1_uc010wgt.1_Frame_Shift_Del_p.E332fs|EZH1_uc010wgu.1_Frame_Shift_Del_p.E408fs|EZH1_uc010wgv.1_Frame_Shift_Del_p.E362fs|EZH1_uc010wgw.1_Frame_Shift_Del_p.E263fs|EZH1_uc010cyp.2_Frame_Shift_Del_p.E303fs|EZH1_uc010cyq.2_Frame_Shift_Del_p.E319fs|EZH1_uc010cyo.1_Frame_Shift_Del_p.E65fs|EZH1_uc010cyr.1_Frame_Shift_Del_p.E54fs	NM_001991	NP_001982	Q92800	EZH1_HUMAN	enhancer of zeste homolog 1	402					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			ovary(3)	3		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		GAGAGTTAGCCTCTGAGAAGGG	0.465													-	40864503	CT	-	40864502	7	5	145	1	0	1	0	1	0	0	0	0	5333	695	24	0	1077	0	EZH1	17	40864502	Frame_Shift_Del	DEL	CT	TCGA-CD-8528-01A-11D-2340-08	11582976	40864502	40330708	88	80527											
MED13	9969	broad.mit.edu	37	chr17	60061595	60061595	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccaattttccaacagtccaaCtctgacggtaaatacactct	4	13	2	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr17:60061595C>G	uc002izo.2	-	15	2902	c.2825G>C	c.(2824-2826)AGT>ACT	p.S942T		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	942					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						AACAGTCCAACTCTGACGGTA	0.403													G	60061595	C	G	60061595	3	3	145	1	0	0	0	0	1	0	0	0	9430	565	20	5	3763	5	MED13	17	60061595	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	19197093	60061595	21133615	89	80528											
SYNGR2	9144	broad.mit.edu	37	chr17	76168001	76168001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaccgagggctaccagcCgccccctgtgtactgagcgg	13	16	0	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr17:76168001C>T	uc002juu.1	+	4	686	c.659C>T	c.(658-660)CCG>CTG	p.P220L	SYNGR2_uc002jut.2_Missense_Mutation_p.R250C|SYNGR2_uc002juv.1_3'UTR|SYNGR2_uc010dhi.1_RNA	NM_004710	NP_004701	O43760	SNG2_HUMAN	synaptogyrin 2	220						integral to plasma membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			GGCTACCAGCCGCCCCCTGTG	0.647													T	76168001	C	T	76168001	3	4	145	1	0	0	0	0	1	0	0	0	15446	652	23	1	673	1	SYNGR2	17	76168001	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	16106406	76168001	5027209	90	80529											
DSEL	92126	broad.mit.edu	37	chr18	65181679	65181679	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagcatacttttcttcAgcttttggttgggtctgaaa	10	6	3	2			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr18:65181679A>G	uc002lke.1	-	2	1421	c.197T>C	c.(196-198)CTG>CCG	p.L66P		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	56						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				ACTTTTCTTCAGCTTTTGGTT	0.378													G	65181679	A	G	65181679	3	3	145	1	0	0	0	0	1	0	0	0	4775	188	7	3	3475	3	DSEL	18	65181679	Missense_Mutation	SNP	A	TCGA-CD-8528-01A-11D-2340-08		65181679	12895569	91	80530											
NFATC1	4772	broad.mit.edu	37	chr18	77171139	77171139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcccacgccgtccccgcaCggctccccgcgggtcagcgt	12	21	1	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr18:77171139C>T	uc010xfg.1	+	2	1317	c.864C>T	c.(862-864)CAC>CAT	p.H288H	NFATC1_uc002lnc.1_Silent_p.H288H|NFATC1_uc010xff.1_Silent_p.H288H|NFATC1_uc002lnd.2_Silent_p.H288H|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Silent_p.H288H|NFATC1_uc010xfi.1_Silent_p.H275H|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Silent_p.H275H|NFATC1_uc002lng.2_Silent_p.H275H|NFATC1_uc010xfk.1_Silent_p.H275H	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	288	3 X SP repeats.|3.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CGTCCCCGCACGGCTCCCCGC	0.692													T	77171139	C	T	77171139	2	4	145	1	0	0	0	0	0	0	0	1	10361	535	19	1		1	NFATC1	18	77171139	Silent	SNP	C	TCGA-CD-8528-01A-11D-2340-08	11989460	77171139	906109	92	80531											
ELANE	1991	broad.mit.edu	37	chr19	853309	853309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagcccataacctctcgcGgcgggagcccacccggcagg	15	16	1	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr19:853309G>A	uc002lqb.2	+	3	310	c.272G>A	c.(271-273)CGG>CAG	p.R91Q		NM_001972	NP_001963	P08246	ELNE_HUMAN	neutrophil elastase preproprotein	91	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			pancreas(1)	1					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	AACCTCTCGCGGCGGGAGCCC	0.672									Kostmann_syndrome				A	853309	G	A	853309	3	1	145	1	0	0	0	0	1	0	0	0	5048	1116	39	1	282	1	ELANE	19	853309	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08		853309	58275674	93	80532											
HMHA1	23526	broad.mit.edu	37	chr19	1079752	1079752	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtggccgacgcgaagacGcagaagcaggagctggagga	18	9	0	2			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr19:1079752G>T	uc002lqz.1	+	12	1656	c.1425G>T	c.(1423-1425)ACG>ACT	p.T475T	HMHA1_uc010xgd.1_Silent_p.T491T|HMHA1_uc010xge.1_Silent_p.T315T|HMHA1_uc002lra.1_Silent_p.T315T|HMHA1_uc002lrb.1_Silent_p.T358T|HMHA1_uc002lrc.1_Silent_p.T110T	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	475	Potential.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCGAAGACGCAGAAGCAGG	0.682													T	1079752	G	T	1079752	2	4	145	1	0	0	0	0	0	0	0	1	7240	1074	38	5		5	HMHA1	19	1079752	Silent	SNP	G	TCGA-CD-8528-01A-11D-2340-08	226443	1079752	58049231	94	80533											
CLEC17A	388512	broad.mit.edu	37	chr19	14705596	14705596	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacctcgccgctgtcacctgTccacctcctcaactgggtga	9	17	2	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr19:14705596T>C	uc010dzn.1	+	7	464	c.387T>C	c.(385-387)TGT>TGC	p.C129C	CLEC17A_uc002mzh.1_Silent_p.C112C|CLEC17A_uc010xnt.1_RNA|CLEC17A_uc010xnu.1_Silent_p.C129C|CLEC17A_uc010dzo.1_Silent_p.C129C			Q6ZS10	CL17A_HUMAN	SubName: Full=CLEC17A protein;	129	Cytoplasmic (Potential).					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity				0						CTGTCACCTGTCCACCTCCTC	0.488													C	14705596	T	C	14705596	2	2	145	1	0	0	0	0	0	0	0	1	3501	1673	58	3		3	CLEC17A	19	14705596	Silent	SNP	T	TCGA-CD-8528-01A-11D-2340-08	13625844	14705596	44423387	95	80534											
ZNF568	374900	broad.mit.edu	37	chr19	37488168	37488168	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattcacatcttattcgacaTcagagtgtccatactgggga	9	9	3	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr19:37488168T>C	uc010efg.2	+	10	2090	c.1533T>C	c.(1531-1533)CAT>CAC	p.H511H	ZNF568_uc010xtn.1_Silent_p.H449H|uc010efi.2_Silent_p.H329H|uc010efj.2_Silent_p.H329H			Q3ZCX4	ZN568_HUMAN	SubName: Full=cDNA FLJ57578, moderately similar to Mus musculus zinc finger protein 568 (Zfp568), mRNA;	548	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTATTCGACATCAGAGTGTCC	0.448													C	37488168	T	C	37488168	2	2	145	1	0	0	0	0	0	0	0	1	17996	1450	50	3		3	ZNF568	19	37488168	Silent	SNP	T	TCGA-CD-8528-01A-11D-2340-08	22782572	37488168	21640815	96	80535											
PRX	57716	broad.mit.edu	37	chr19	40900427	40900427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggatggcgagagctccacgtCgggcagtgagaggcagaagg	19	8	0	3			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr19:40900427C>T	uc002onr.2	-	7	4101	c.3832G>A	c.(3832-3834)GAC>AAC	p.D1278N	PRX_uc002onq.2_Missense_Mutation_p.D1139N|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1278					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCTCCACGTCGGGCAGTGAG	0.687													T	40900427	C	T	40900427	3	4	145	1	0	0	0	0	1	0	0	0	12642	884	31	1	557	1	PRX	19	40900427	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	3412259	40900427	18228556	97	80536											
CYP2A13	1553	broad.mit.edu	37	chr19	41600977	41600977	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagaaggggcagtttaagaaGagtgatgcttttgtgccctt	13	5	0	4			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr19:41600977G>C	uc002opt.2	+	8	1284	c.1275G>C	c.(1273-1275)AAG>AAC	p.K425N		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A,	425					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			ovary(2)|skin(1)	3					Clomipramine(DB01242)|Nicotine(DB00184)	AGTTTAAGAAGAGTGATGCTT	0.577													C	41600977	G	C	41600977	3	2	145	1	0	0	0	0	1	0	0	0	4161	933	33	5	1305	5	CYP2A13	19	41600977	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08	700550	41600977	17528006	98	80537											
SHANK1	50944	broad.mit.edu	37	chr19	51171798	51171798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcggccacggcgggcggcGgctgcggggaggccggggac	24	13	0	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr19:51171798G>A	uc002psx.1	-	22	3438	c.3419C>T	c.(3418-3420)CCG>CTG	p.P1140L	SHANK1_uc002psw.1_Missense_Mutation_p.P524L	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1140					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ggcgggcggcggctgcgggga	0.443													A	51171798	G	A	51171798	3	1	145	1	0	0	0	0	1	0	0	0	14264	1116	39	1	3074	1	SHANK1	19	51171798	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08	9570821	51171798	7957185	99	80538											
LILRA5	353514	broad.mit.edu	37	chr19	54823401	54823401	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctggctcagcccagagggTggctttggagaggttccctg	16	11	1	2			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr19:54823401T>C	uc002qfe.2	-	4	262	c.142A>G	c.(142-144)ACC>GCC	p.T48A	LILRA5_uc002qff.2_Missense_Mutation_p.T36A|LILRA5_uc010yev.1_Missense_Mutation_p.T48A|LILRA5_uc010yew.1_Missense_Mutation_p.T36A|LILRA5_uc002qfh.1_Missense_Mutation_p.T36A|LILRA5_uc002qfg.1_Missense_Mutation_p.T48A	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor subfamily	48	Extracellular (Potential).				innate immune response	extracellular region|integral to membrane	receptor activity			upper_aerodigestive_tract(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCCCAGAGGGTGGCTTTGGAG	0.617													C	54823401	T	C	54823401	3	2	145	1	0	0	0	0	1	0	0	0	8788	1696	59	3	859	3	LILRA5	19	54823401	Missense_Mutation	SNP	T	TCGA-CD-8528-01A-11D-2340-08	3651603	54823401	4305582	100	80539											
JAG1	182	broad.mit.edu	37	chr20	10639259	10639259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagtcatcacaggtcacgCggatctgatactcaaagtgg	11	9	5	1	rs121918351		TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr20:10639259C>T	uc002wnw.2	-	4	1067	c.551G>A	c.(550-552)CGC>CAC	p.R184H		NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	184	Extracellular (Potential).		R -> C (in ALGS1).|R -> H (in ALGS1).|R -> G (in ALGS1).|R -> L (in ALGS1).		angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						ACAGGTCACGCGGATCTGATA	0.522									Alagille_Syndrome				T	10639259	C	T	10639259	3	4	145	1	0	0	0	0	1	0	0	0	7934	768	27	1	3197	1	JAG1	20	10639259	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08		10639259	52386261	101	80540											
SSTR4	6754	broad.mit.edu	37	chr20	23016919	23016919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgctgatggtcgtggtcGtctttgtgctctgctggatg	16	7	2	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr20:23016919G>A	uc002wsr.2	+	1	863	c.799G>A	c.(799-801)GTC>ATC	p.V267I		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	267	Helical; Name=6; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGTCGTGGTCGTCTTTGTGCT	0.607													A	23016919	G	A	23016919	3	1	145	1	0	0	0	0	1	0	0	0	15199	1145	40	1	801	1	SSTR4	20	23016919	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08	12377660	23016919	40008601	102	80541											
SEMG2	6407	broad.mit.edu	37	chr20	43850987	43850987	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agtaaactacaaacttcactCcatcctgcacatcaagacag	4	13	2	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr20:43850987C>A	uc010ggz.2	+	2	771	c.714C>A	c.(712-714)CTC>CTA	p.L238L	SEMG2_uc002xnk.2_Silent_p.L238L|SEMG2_uc002xnl.2_Silent_p.L238L	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	238	2-2.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				AAACTTCACTCCATCCTGCAC	0.378													A	43850987	C	A	43850987	2	1	145	1	0	0	0	0	0	0	0	1	14045	842	30	5		5	SEMG2	20	43850987	Silent	SNP	C	TCGA-CD-8528-01A-11D-2340-08	20834068	43850987	19174533	103	80542											
ARFGEF2	10564	broad.mit.edu	37	chr20	47639687	47639687	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaccctgcgacgagcaaaaAggaggatgcagagcacatgg	13	10	0	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr20:47639687A>C	uc002xtx.3	+	35	4876	c.4724A>C	c.(4723-4725)AAG>ACG	p.K1575T	ARFGEF2_uc010zyf.1_Missense_Mutation_p.K868T	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	1575					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACGAGCAAAAAGGAGGATGCA	0.478													C	47639687	A	C	47639687	3	2	145	1	0	0	0	0	1	0	0	0	853	72	3	5	4862	5	ARFGEF2	20	47639687	Missense_Mutation	SNP	A	TCGA-CD-8528-01A-11D-2340-08	3788700	47639687	15385833	104	80543											
CBLN4	140689	broad.mit.edu	37	chr20	54579014	54579014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccgcaccgccgagaaggCgaccttggagttggccgccc	14	16	0	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr20:54579014C>T	uc002xxa.2	-	1	999	c.214G>A	c.(214-216)GCC>ACC	p.A72T		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	72	C1q.					cell junction|extracellular region|synapse		p.A72T(1)		ovary(3)|pancreas(1)	4			Colorectal(105;0.202)			GCCGAGAAGGCGACCTTGGAG	0.637													T	54579014	C	T	54579014	3	4	145	1	0	0	0	0	1	0	0	0	2707	768	27	1	403	1	CBLN4	20	54579014	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	6939327	54579014	8446506	105	80544											
ZNF831	128611	broad.mit.edu	37	chr20	57766931	57766931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggactctgcccccatggCgtcacctgggctcccagcgg	13	16	2	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr20:57766931C>T	uc002yan.2	+	1	857	c.857C>T	c.(856-858)GCG>GTG	p.A286V		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	286						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					GCCCCCATGGCGTCACCTGGG	0.662													T	57766931	C	T	57766931	3	4	145	1	0	0	0	0	1	0	0	0	18182	768	27	1	859	1	ZNF831	20	57766931	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	3187917	57766931	5258589	106	80545											
GTPBP5	26164	broad.mit.edu	37	chr20	60768650	60768650	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaagcatcaggaactcccGgggaagaagctgctctctga	12	12	2	2			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr20:60768650G>A	uc002yce.3	+	2	212	c.174G>A	c.(172-174)CCG>CCA	p.P58P	GTPBP5_uc011aab.1_Intron|GTPBP5_uc011aac.1_Intron|GTPBP5_uc011aad.1_5'UTR|GTPBP5_uc011aae.1_Intron|GTPBP5_uc011aaf.1_Silent_p.P58P|GTPBP5_uc011aag.1_Silent_p.P58P	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	GTP binding protein 5	58	Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding				0	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			AGGAACTCCCGGGGAAGAAGC	0.627													A	60768650	G	A	60768650	2	1	145	1	0	0	0	0	0	0	0	1	6883	1103	39	1		1	GTPBP5	20	60768650	Silent	SNP	G	TCGA-CD-8528-01A-11D-2340-08	3001719	60768650	2256870	107	80546											
TIAM1	7074	broad.mit.edu	37	chr21	32493107	32493107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatcaatggtaaacctgtttCgagccagccgccgcctcctc	8	15	1	0			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr21:32493107C>T	uc002yow.1	-	29	4827	c.4355G>A	c.(4354-4356)CGA>CAA	p.R1452Q	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.R1392Q	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1452					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						AAACCTGTTTCGAGCCAGCCG	0.552													T	32493107	C	T	32493107	3	4	145	1	0	0	0	0	1	0	0	0	15887	884	31	1	424	1	TIAM1	21	32493107	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08		32493107	15636788	108	80547											
C21orf63	59271	broad.mit.edu	37	chr21	33867373	33867373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctttgcaagtcctatcccGaaggtgctatgggaagcaga	12	9	0	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr21:33867373G>A	uc002ypr.1	+	5	1081	c.671G>A	c.(670-672)CGA>CAA	p.R224Q	C21orf63_uc002yps.1_RNA|C21orf63_uc010glw.1_Missense_Mutation_p.R224Q|C21orf63_uc002ypt.1_RNA|C21orf63_uc002ypu.1_Missense_Mutation_p.R129Q|C21orf63_uc011adq.1_5'UTR	NM_058187	NP_478067	P58658	CU063_HUMAN	hypothetical protein LOC59271 precursor	224	SUEL-type lectin 2.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(2)|pancreas(1)	3						GTCCTATCCCGAAGGTGCTAT	0.488													A	33867373	G	A	33867373	3	1	145	1	0	0	0	0	1	0	0	0	2131	1058	37	1	689	1	C21orf63	21	33867373	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08	1374266	33867373	14262522	109	80548											
SEC14L2	23541	broad.mit.edu	37	chr22	30812329	30812329	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacagaggtgctgcccaacCagaggtacaactcccacctg	10	14	0	3			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr22:30812329C>T	uc003ahr.2	+	11	1191	c.1018C>T	c.(1018-1020)CAG>TAG	p.Q340*	SEC14L2_uc003ahq.2_Nonsense_Mutation_p.Q340*|SEC14L2_uc011akx.1_Nonsense_Mutation_p.Q286*|SEC14L2_uc003ahs.2_Nonsense_Mutation_p.Q266*|SEC14L2_uc011aky.1_Nonsense_Mutation_p.Q257*|SEC14L2_uc003aht.2_RNA|SEC14L2_uc003ahu.3_Intron|SEC14L2_uc010gvv.2_RNA|SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Nonsense_Mutation_p.Q33*|MTP18_uc003ahv.1_Nonsense_Mutation_p.Q164*|MTP18_uc010gvy.1_Intron	NM_012429	NP_036561	O76054	S14L2_HUMAN	SEC14-like 2 isoform 1	340	GOLD.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding				0					Vitamin E(DB00163)	GCTGCCCAACCAGAGGTACAA	0.547													T	30812329	C	T	30812329	4	4	145	1	0	0	0	0	0	1	0	0	13982	595	21	4	1060	4	SEC14L2	22	30812329	Nonsense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08		30812329	20492237	110	80549											
SEC14L4	284904	broad.mit.edu	37	chr22	30891385	30891385	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtacacagggcagccttcGtagtcgtagccacaaagacc	10	12	0	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chr22:30891385G>A	uc003aid.2	-	5	379	c.279C>T	c.(277-279)TAC>TAT	p.Y93Y	SEC14L4_uc011akz.1_Silent_p.Y93Y|SEC14L4_uc003aie.2_Silent_p.Y78Y|SEC14L4_uc003aif.2_Silent_p.Y39Y	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	SEC14p-like protein TAP3 isoform a	93	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			skin(1)	1					Vitamin E(DB00163)	GGCAGCCTTCGTAGTCGTAGC	0.562													A	30891385	G	A	30891385	2	1	145	1	0	0	0	0	0	0	0	1	13984	1140	40	1		1	SEC14L4	22	30891385	Silent	SNP	G	TCGA-CD-8528-01A-11D-2340-08	79056	30891385	20413181	111	80550											
GRPR	2925	broad.mit.edu	37	chrX	16142390	16142390	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagcaggtacctggctgacaGatggctatttggcaggattg	14	8	0	2			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chrX:16142390G>T	uc004cxj.2	+	1	967	c.314G>T	c.(313-315)AGA>ATA	p.R105I		NM_005314	NP_005305	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	105	Extracellular (Potential).				cell proliferation	integral to plasma membrane	bombesin receptor activity			ovary(3)|lung(1)	4	Hepatocellular(33;0.183)					CTGGCTGACAGATGGCTATTT	0.532											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	16142390	G	T	16142390	3	4	145	1	0	0	0	0	1	0	0	0	6808	942	33	5	316	5	GRPR	23	16142390	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08		16142390	139128170	112	80551											
FAM47C	442444	broad.mit.edu	37	chrX	37029349	37029349	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaagctaagaagtgatgaaCctttgattgaccccaagctc	8	9	0	5			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chrX:37029349C>A	uc004ddl.1	+	1	2880	c.2866C>A	c.(2866-2868)CCT>ACT	p.P956T		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	956										ovary(3)	3						AAGTGATGAACCTTTGATTGA	0.443													A	37029349	C	A	37029349	3	1	145	1	0	0	0	0	1	0	0	0	5571	507	18	5	2868	5	FAM47C	23	37029349	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	20886959	37029349	118241211	113	80552											
RPS6KA6	27330	broad.mit.edu	37	chrX	83359569	83359569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtatatcactagcctcccGttccgagaaacatttttgtt	6	10	1	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chrX:83359569G>A	uc004eej.1	-	17	1629	c.1552C>T	c.(1552-1554)CGG>TGG	p.R518W	RPS6KA6_uc011mqt.1_Missense_Mutation_p.R518W|RPS6KA6_uc011mqu.1_Missense_Mutation_p.R415W	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	518	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						CTAGCCTCCCGTTCCGAGAAA	0.353													A	83359569	G	A	83359569	3	1	145	1	0	0	0	0	1	0	0	0	13655	1144	40	1	709	1	RPS6KA6	23	83359569	Missense_Mutation	SNP	G	TCGA-CD-8528-01A-11D-2340-08	46330220	83359569	71910991	114	80553											
MUM1L1	139221	broad.mit.edu	37	chrX	105450999	105450999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatgaagatgccagggaacCgatggctgtaacttcccaga	11	9	0	3			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chrX:105450999C>T	uc004emf.1	+	4	2223	c.1574C>T	c.(1573-1575)CCG>CTG	p.P525L	MUM1L1_uc004emg.1_Missense_Mutation_p.P525L	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	525										ovary(2)|pancreas(1)|skin(1)	4						GCCAGGGAACCGATGGCTGTA	0.448													T	105450999	C	T	105450999	3	4	145	1	0	0	0	0	1	0	0	0	9986	652	23	1	1576	1	MUM1L1	23	105450999	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	22091430	105450999	49819561	115	80554											
ODZ1	10178	broad.mit.edu	37	chrX	123540329	123540329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcattggtcaggtgtccctCggggtcatacctgaggaatg	14	9	2	1			TCGA-CD-8528-01A-11D-2340-08	TCGA-CD-8528-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1428870-65bf-45a5-b321-578ad94288c1	07bd0343-e5c6-48bf-ae2a-1d3d56b624ea	g.chrX:123540329C>T	uc004euj.2	-	25	5036	c.4972G>A	c.(4972-4974)GAG>AAG	p.E1658K	ODZ1_uc011muj.1_Missense_Mutation_p.E1664K|ODZ1_uc010nqy.2_Missense_Mutation_p.E1665K	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1658	Extracellular (Potential).|YD 5.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						AGGTGTCCCTCGGGGTCATAC	0.488													T	123540329	C	T	123540329	3	4	145	1	0	0	0	0	1	0	0	0	10834	893	31	1	3233	1	ODZ1	23	123540329	Missense_Mutation	SNP	C	TCGA-CD-8528-01A-11D-2340-08	18089330	123540329	31730231	116	80555											
KAZ	23254	broad.mit.edu	37	chr1	15386779	15386779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaactcccctcgacaccGgacacactccctctgcaacg	5	20	2	0	rs147538261		TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:15386779G>A	uc001avm.3	+	6	1309	c.1028G>A	c.(1027-1029)CGG>CAG	p.R343Q	KAZ_uc009vog.1_Missense_Mutation_p.R343Q|KAZ_uc010obj.1_Missense_Mutation_p.R343Q|KAZ_uc001avo.2_Missense_Mutation_p.R337Q|KAZ_uc001avp.2_Missense_Mutation_p.R249Q|KAZ_uc001avq.2_Missense_Mutation_p.R249Q|KAZ_uc001avr.2_Missense_Mutation_p.R246Q	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	343					keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0						CCTCGACACCGGACACACTCC	0.692													A	15386779	G	A	15386779	3	1	146	1	0	0	0	0	1	0	0	0	7988	1116	39	1	1262	1	KAZ	1	15386779	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08		15386779	233863842	1	80556											
MAP3K6	9064	broad.mit.edu	37	chr1	27689455	27689455	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgccacagagccctcaagCtgtaccagcggcagcagcac	12	16	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:27689455C>T	uc001bny.1	-	7	1278	c.1029G>A	c.(1027-1029)CAG>CAA	p.Q343Q	MAP3K6_uc009vsw.1_Silent_p.Q335Q|MAP3K6_uc001bnz.1_5'Flank	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	343					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCCTCAAGCTGTACCAGCG	0.632													T	27689455	C	T	27689455	2	4	146	1	0	0	0	0	0	0	0	1	9254	796	28	2		2	MAP3K6	1	27689455	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	12302676	27689455	221561166	2	80557											
CSMD2	114784	broad.mit.edu	37	chr1	34049315	34049315	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgagggagatgttatagtcGggctccactctcaccagcca	12	11	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:34049315G>C	uc001bxn.1	-	48	7202	c.7173C>G	c.(7171-7173)CCC>CCG	p.P2391P	CSMD2_uc001bxm.1_Silent_p.P2389P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2391	CUB 14.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTTATAGTCGGGCTCCACTC	0.502													C	34049315	G	C	34049315	2	2	146	1	0	0	0	0	0	0	0	1	3945	1103	39	5		5	CSMD2	1	34049315	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	6359860	34049315	215201306	3	80558											
MACF1	23499	broad.mit.edu	37	chr1	39797109	39797109	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agcagctccgggagctacagGatgccctggccttaataagc	12	12	0	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:39797109G>C	uc010oiu.1	+	1	300	c.169G>C	c.(169-171)GAT>CAT	p.D57H	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1622					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAGCTACAGGATGCCCTGGC	0.507													C	39797109	G	C	39797109	3	2	146	1	0	0	0	0	1	0	0	0	9144	1174	41	5	4940	5	MACF1	1	39797109	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	5747794	39797109	209453512	4	80559											
TIE1	7075	broad.mit.edu	37	chr1	43774661	43774661	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgtcctttctccccagaccgGatcccccagatcctcaacat	5	18	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:43774661G>T	uc001ciu.2	+	8	1126	c.1047G>T	c.(1045-1047)CGG>CGT	p.R349R	TIE1_uc010okd.1_Silent_p.R349R|TIE1_uc010oke.1_Silent_p.R304R|TIE1_uc009vwq.2_Silent_p.R305R|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.1_5'UTR|TIE1_uc010okc.1_Intron	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	349	Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCCAGACCGGATCCCCCAGA	0.592													T	43774661	G	T	43774661	2	4	146	1	0	0	0	0	0	0	0	1	15890	1161	41	5		5	TIE1	1	43774661	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	3977552	43774661	205475960	5	80560											
TIE1	7075	broad.mit.edu	37	chr1	43783012	43783012	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcggggaggggaacttcgGccaggtcatccgggccatga	16	11	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:43783012G>T	uc001ciu.2	+	15	2631	c.2552G>T	c.(2551-2553)GGC>GTC	p.G851V	TIE1_uc010oke.1_Missense_Mutation_p.G806V|TIE1_uc009vwq.2_Missense_Mutation_p.G807V|TIE1_uc010okg.1_Missense_Mutation_p.G496V	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	851	ATP (By similarity).|Cytoplasmic (Potential).|Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGAACTTCGGCCAGGTCATC	0.612													T	43783012	G	T	43783012	3	4	146	1	0	0	0	0	1	0	0	0	15890	1203	42	5	2610	5	TIE1	1	43783012	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	8351	43783012	205467609	6	80561											
PODN	127435	broad.mit.edu	37	chr1	53542984	53542984	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgccacgtgcccaagcAcctgccgcctgccctgtaca	9	20	0	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:53542984A>T	uc001cuv.2	+	6	855	c.848A>T	c.(847-849)CAC>CTC	p.H283L	PODN_uc001cuw.2_Missense_Mutation_p.H264L|PODN_uc010onr.1_Missense_Mutation_p.H264L|PODN_uc010ons.1_Intron	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	235	LRR 6.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2						GTGCCCAAGCACCTGCCGCCT	0.662													T	53542984	A	T	53542984	3	4	146	1	0	0	0	0	1	0	0	0	12178	159	6	5	870	5	PODN	1	53542984	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	9759972	53542984	195707637	7	80562											
LRRC7	57554	broad.mit.edu	37	chr1	70303923	70303923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtagacttgtcaaattgCggatcttggagttaagagaa	11	5	3	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:70303923C>T	uc001dep.2	+	5	520	c.490C>T	c.(490-492)CGG>TGG	p.R164W	LRRC7_uc001deo.1_Missense_Mutation_p.R202W|LRRC7_uc009wbg.2_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	164	LRR 7.					centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TGTCAAATTGCGGATCTTGGA	0.244													T	70303923	C	T	70303923	3	4	146	1	0	0	0	0	1	0	0	0	9020	759	27	1	508	1	LRRC7	1	70303923	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	16760939	70303923	178946698	8	80563											
ELTD1	64123	broad.mit.edu	37	chr1	79383697	79383697	+	Frame_Shift_Del	DEL	G	G	-													catgcaaaagcagctaaaaaGaagtagtgtagcagtccggc							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:79383696_79383696AG>A	uc001diq.4	-	10	1657	c.1501_1501CT>T	c.(1501-1503)tttfs	p.F501fs		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	501					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCAGCTAAAAAGAAGTAGTGT	0.333													-	79383697	G	-	79383697	7	5	146	1	0	1	0	1	0	0	0	0	5084	933	33	0	592	0	ELTD1	1	79383697	Frame_Shift_Del	DEL	G	TCGA-CD-8529-01A-11D-2340-08	9079774	79383697	169866924	9	80564											
LRRC8B	23507	broad.mit.edu	37	chr1	90058373	90058373	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttcagtgcaaaaagctgcAgtgtttacttttggggaaaa	11	5	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:90058373A>G	uc001dni.2	+	8	2690	c.2183A>G	c.(2182-2184)CAG>CGG	p.Q728R	LRRC8B_uc001dnh.2_Missense_Mutation_p.Q728R|LRRC8B_uc001dnj.2_Missense_Mutation_p.Q728R	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	728	LRR 12.					integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		AAAAAGCTGCAGTGTTTACTT	0.413													G	90058373	A	G	90058373	3	3	146	1	0	0	0	0	1	0	0	0	9022	188	7	3	2189	3	LRRC8B	1	90058373	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	10674676	90058373	159192248	10	80565											
RTCD1	8634	broad.mit.edu	37	chr1	100741243	100741243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccagcctgttcaagaacCtaaagaccaagcatttggca	7	12	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:100741243C>T	uc001dtc.2	+	7	922	c.704C>T	c.(703-705)CCT>CTT	p.P235L	RTCD1_uc001dtd.2_Missense_Mutation_p.P248L	NM_003729	NP_003720	O00442	RTC1_HUMAN	RNA terminal phosphate cyclase domain 1 isoform	235					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)		GTTCAAGAACCTAAAGACCAA	0.363													T	100741243	C	T	100741243	3	4	146	1	0	0	0	0	1	0	0	0	13718	681	24	4	773	4	RTCD1	1	100741243	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	10682870	100741243	148509378	11	80566											
GPSM2	29899	broad.mit.edu	37	chr1	109465061	109465061	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aatcagtgcagatactattgGagatgaagggttctttgact	11	5	2	4			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:109465061G>C	uc010ovc.1	+	13	1959	c.1463G>C	c.(1462-1464)GGA>GCA	p.G488A	AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Missense_Mutation_p.G488A|GPSM2_uc010ove.1_Missense_Mutation_p.G488A	NM_013296	NP_037428	P81274	GPSM2_HUMAN	LGN protein	488					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		GATACTATTGGAGATGAAGGG	0.338													C	109465061	G	C	109465061	3	2	146	1	0	0	0	0	1	0	0	0	6735	1174	41	5	1509	5	GPSM2	1	109465061	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	8723818	109465061	139785560	12	80567											
KCND3	3752	broad.mit.edu	37	chr1	112525166	112525166	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccagcagggtgtccggGtagcgctccagcgtggtcct	15	14	0	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:112525166G>C	uc001ebu.1	-	2	663	c.183C>G	c.(181-183)TAC>TAG	p.Y61*	KCND3_uc001ebv.1_Nonsense_Mutation_p.Y61*	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	61	Cytoplasmic (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGGTGTCCGGGTAGCGCTCCA	0.632													C	112525166	G	C	112525166	4	2	146	1	0	0	0	0	0	1	0	0	8020	1256	44	5	1812	5	KCND3	1	112525166	Nonsense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	3060105	112525166	136725455	13	80568											
PDZK1	5174	broad.mit.edu	37	chr1	145747082	145747082	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccccgagaatgtaaactgtcCaagcaagaagggcaaaacta	9	10	0	2	rs150154026		TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:145747082C>G	uc001eon.1	+	3	136	c.39C>G	c.(37-39)TCC>TCG	p.S13S	NBPF10_uc001emp.3_Intron|PDZK1_uc001eoo.1_Silent_p.S13S|PDZK1_uc010oza.1_Silent_p.S13S	NM_002614	NP_002605	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	13	PDZ 1.				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity				0	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GTAAACTGTCCAAGCAAGAAG	0.453													G	145747082	C	G	145747082	2	3	146	1	0	0	0	0	0	0	0	1	11707	581	21	5		5	PDZK1	1	145747082	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	33221916	145747082	103503539	14	80569											
THEM5	284486	broad.mit.edu	37	chr1	151820670	151820670	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atacttactttttgaacctgAtgttgagacttagtgtgaac	8	6	0	4			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:151820670A>T	uc009wnd.2	-	4	695	c.563T>A	c.(562-564)ATC>AAC	p.I188N		NM_182578	NP_872384	Q8N1Q8	THEM5_HUMAN	thioesterase superfamily member 5	188							hydrolase activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTTGAACCTGATGTTGAGACT	0.552													T	151820670	A	T	151820670	3	4	146	1	0	0	0	0	1	0	0	0	15856	333	12	5	192	5	THEM5	1	151820670	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	6073588	151820670	97429951	15	80570											
ADAM15	8751	broad.mit.edu	37	chr1	155034398	155034398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgagctggctgaccgaCccaatccccctacccgccct	9	19	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:155034398C>T	uc001fgr.1	+	21	2472	c.2371C>T	c.(2371-2373)CCC>TCC	p.P791S	EFNA3_uc010pew.1_5'Flank|ADAM15_uc001fgq.1_Missense_Mutation_p.P475S|ADAM15_uc001fgt.1_Missense_Mutation_p.P790S|ADAM15_uc010pev.1_Intron|ADAM15_uc001fgs.1_Intron|ADAM15_uc001fgu.1_Missense_Mutation_p.P766S|ADAM15_uc001fgw.1_Intron|ADAM15_uc001fgv.1_Intron|ADAM15_uc001fgx.1_Intron|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_Intron|EFNA4_uc001fhc.2_5'Flank|EFNA4_uc001fhd.2_5'Flank|EFNA4_uc001fhe.2_5'Flank	NM_207197	NP_997080	Q13444	ADA15_HUMAN	a disintegrin and metalloproteinase domain 15	791	Cytoplasmic (Potential).				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			central_nervous_system(3)|skin(2)|ovary(1)	6	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GGCTGACCGACCCAATCCCCC	0.647											OREG0013848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	155034398	C	T	155034398	3	4	146	1	0	0	0	0	1	0	0	0	237	507	18	4	2453	4	ADAM15	1	155034398	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	3213728	155034398	94216223	16	80571											
ASH1L	55870	broad.mit.edu	37	chr1	155490999	155490999	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcaggtcgacatacatagttCtccaagttctttggaggttt	10	8	2	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:155490999C>T	uc009wqq.2	-	2	792	c.312G>A	c.(310-312)GAG>GAA	p.E104E	ASH1L_uc001fkt.2_Silent_p.E104E|ASH1L_uc009wqr.1_Silent_p.E104E	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	104					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATACATAGTTCTCCAAGTTCT	0.363													T	155490999	C	T	155490999	2	4	146	1	0	0	0	0	0	0	0	1	1041	912	32	4		4	ASH1L	1	155490999	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	456601	155490999	93759622	17	80572											
KIAA0907	22889	broad.mit.edu	37	chr1	155895441	155895441	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acctgatgtaaatatacataGgttcaaaagcttctcggcca	7	9	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:155895441G>C	uc001fmi.1	-	7	899	c.875C>G	c.(874-876)CCT>CGT	p.P292R	KIAA0907_uc001fmj.1_Missense_Mutation_p.P292R|KIAA0907_uc009wrk.1_Intron|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.P292R|KIAA0907_uc001fmm.2_3'UTR	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	292											0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			AATATACATAGGTTCAAAAGC	0.463													C	155895441	G	C	155895441	3	2	146	1	0	0	0	0	1	0	0	0	8199	1000	35	5	1001	5	KIAA0907	1	155895441	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	404442	155895441	93355180	18	80573											
ARHGEF2	9181	broad.mit.edu	37	chr1	155935499	155935499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggagcccaggagggactgCcggaagctgtcggaggggta	20	9	0	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:155935499C>T	uc001fmt.2	-	5	511	c.393G>A	c.(391-393)CGG>CGA	p.R131R	ARHGEF2_uc001fmr.2_Silent_p.R104R|ARHGEF2_uc001fms.2_Silent_p.R131R|ARHGEF2_uc001fmu.2_Silent_p.R176R|ARHGEF2_uc010pgt.1_Silent_p.R104R|ARHGEF2_uc010pgu.1_Silent_p.R176R	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	131					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGAGGGACTGCCGGAAGCTGT	0.612													T	155935499	C	T	155935499	2	4	146	1	0	0	0	0	0	0	0	1	903	726	26	2		2	ARHGEF2	1	155935499	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	40058	155935499	93315122	19	80574											
FCRL3	115352	broad.mit.edu	37	chr1	157667565	157667565	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agactgaattcactgtgatcTtctctaaattataactatta	4	7	3	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:157667565T>C	uc001frb.2	-	5	735	c.443A>G	c.(442-444)AAG>AGG	p.K148R	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.K148R|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Missense_Mutation_p.K148R	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	148	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					CACTGTGATCTTCTCTAAATT	0.343													C	157667565	T	C	157667565	3	2	146	1	0	0	0	0	1	0	0	0	5796	1609	56	3	1805	3	FCRL3	1	157667565	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	1732066	157667565	91583056	20	80575											
OR10K1	391109	broad.mit.edu	37	chr1	158435864	158435864	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catctgcccttccactcctcCaaccagctccatcacttctt	2	20	3	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:158435864C>A	uc010pij.1	+	1	513	c.513C>A	c.(511-513)TCC>TCA	p.S171S		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K,	171	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TCCACTCCTCCAACCAGCTCC	0.527													A	158435864	C	A	158435864	2	1	146	1	0	0	0	0	0	0	0	1	10913	581	21	5		5	OR10K1	1	158435864	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	768299	158435864	90814757	21	80576											
SPTA1	6708	broad.mit.edu	37	chr1	158581078	158581078	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgccaaagtaggaattggtGaagccaacgtagtcatagcc	11	8	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:158581078G>T	uc001fst.1	-	52	7435	c.7236C>A	c.(7234-7236)TTC>TTA	p.F2412L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2412				GRSHLSGYDYVGFTNSYFGN -> VEAISLAMTTLASPIPT LATNKQLLVDRRKS (in Ref. 1; AAA60577/ AAA60994).	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					AGGAATTGGTGAAGCCAACGT	0.483													T	158581078	G	T	158581078	3	4	146	1	0	0	0	0	1	0	0	0	15115	1281	45	5	27	5	SPTA1	1	158581078	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	145214	158581078	90669543	22	80577											
PYHIN1	149628	broad.mit.edu	37	chr1	158908216	158908234	+	Frame_Shift_Del	DEL	AAAGGAATAATCCCATCTA	AAAGGAATAATCCCATCTA	-													aaattgaatccattccagtcAaaggaataatcccatctaaa							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:158908215_158908233CAAAGGAATAATCCCATCTA>C	uc001ftb.3	+	2	544_562	c.294_312CAAAGGAATAATCCCATCTA>C	c.(292-312)gtcaaaggaataatcccatctfs	p.V98fs	PYHIN1_uc001fta.4_Frame_Shift_Del_p.V98fs|PYHIN1_uc001ftc.3_Frame_Shift_Del_p.V89fs|PYHIN1_uc001ftd.3_Frame_Shift_Del_p.V98fs|PYHIN1_uc001fte.3_Frame_Shift_Del_p.V89fs	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	98					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CCATTCCAGTCAAAGGAATAATCCCATCTAAAAAGACGA	0.438													-	158908234	AAAGGAATAATCCCATCTA	-	158908216	7	5	146	1	0	1	0	1	0	0	0	0	12865	131	5	0	301	0	PYHIN1	1	158908216	Frame_Shift_Del	DEL	AAAGGAATAATCCCATCTA	TCGA-CD-8529-01A-11D-2340-08	327138	158908216	90342405	23	80578											
POU2F1	5451	broad.mit.edu	37	chr1	167334762	167334762	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtgcctgtaggaggagcaatCtcaacagcccaggcgcaggc	14	12	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:167334762C>G	uc001gec.2	+	4	279	c.117C>G	c.(115-117)ATC>ATG	p.I39M	POU2F1_uc010plg.1_RNA|POU2F1_uc001ged.2_Missense_Mutation_p.I37M|POU2F1_uc001gee.2_Missense_Mutation_p.I39M|POU2F1_uc010plh.1_Missense_Mutation_p.I39M|POU2F1_uc001gef.2_Missense_Mutation_p.I51M	NM_002697	NP_002688	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	39					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|skin(2)|breast(1)	5						GAGGAGCAATCTCAACAGCCC	0.448													G	167334762	C	G	167334762	3	3	146	1	0	0	0	0	1	0	0	0	12271	903	32	5	123	5	POU2F1	1	167334762	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	8426546	167334762	81915859	24	80579											
TIPRL	261726	broad.mit.edu	37	chr1	168165873	168165873	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgaatgacacgagactttAccatgaggtatttattgttg	9	5	0	4			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:168165873A>C	uc001gfg.2	+	5	750	c.605A>C	c.(604-606)TAC>TCC	p.Y202S	TIPRL_uc001gfh.2_Missense_Mutation_p.Y202S	NM_152902	NP_690866	O75663	TIPRL_HUMAN	TIP41, TOR signalling pathway regulator-like	202	Interaction with PPP2CA.				DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			ovary(1)	1	all_hematologic(923;0.215)					ACGAGACTTTACCATGAGGTA	0.328													C	168165873	A	C	168165873	3	2	146	1	0	0	0	0	1	0	0	0	15923	391	14	5	648	5	TIPRL	1	168165873	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	831111	168165873	81084748	25	80580											
NME7	29922	broad.mit.edu	37	chr1	169267893	169267893	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaagcatctgtgcgtgcCactccagagtttgcaggtcc	11	12	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:169267893C>T	uc001gfu.2	-	6	787	c.549G>A	c.(547-549)GTG>GTA	p.V183V	NME7_uc010plq.1_RNA|NME7_uc001gft.2_Silent_p.V147V|NME7_uc001gfv.1_Silent_p.V183V	NM_013330	NP_037462	Q9Y5B8	NDK7_HUMAN	nucleoside diphosphate kinase 7 isoform a	183					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)	1	all_hematologic(923;0.208)					CTGTGCGTGCCACTCCAGAGT	0.458													T	169267893	C	T	169267893	2	4	146	1	0	0	0	0	0	0	0	1	10496	581	21	4		4	NME7	1	169267893	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	1102020	169267893	79982728	26	80581											
F5	2153	broad.mit.edu	37	chr1	169511612	169511612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaggaaggtcctcccaggGcctcattccggaaggagaac	13	12	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:169511612G>A	uc001ggg.1	-	13	2861	c.2716C>T	c.(2716-2718)CCC>TCC	p.P906S		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	906	2 X 17 AA tandem repeats.|1-1.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCCTCCCAGGGCCTCATTCCG	0.488													A	169511612	G	A	169511612	3	1	146	1	0	0	0	0	1	0	0	0	5348	1203	42	2	4010	2	F5	1	169511612	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	243719	169511612	79739009	27	80582											
SELP	6403	broad.mit.edu	37	chr1	169580849	169580849	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctggagccataggcaaaaGcagtgagcggatgaacacag	14	8	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:169580849G>T	uc001ggi.3	-	7	1093	c.1028C>A	c.(1027-1029)GCT>GAT	p.A343D	SELP_uc001ggh.2_Missense_Mutation_p.A178D|SELP_uc009wvr.2_Missense_Mutation_p.A343D	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	343	Sushi 3.|Extracellular (Potential).				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ATAGGCAAAAGCAGTGAGCGG	0.527													T	169580849	G	T	169580849	3	4	146	1	0	0	0	0	1	0	0	0	14019	971	34	5	1504	5	SELP	1	169580849	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	69237	169580849	79669772	28	80583											
FASLG	356	broad.mit.edu	37	chr1	172635113	172635113	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atctgagctctctctggtcaAttttgaggaatctcagacgt	9	9	5	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:172635113A>T	uc001gis.2	+	4	960	c.803A>T	c.(802-804)AAT>ATT	p.N268I	FASLG_uc001git.2_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	fas ligand	268	Extracellular (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			lung(2)|breast(1)	3						TCTCTGGTCAATTTTGAGGAA	0.448													T	172635113	A	T	172635113	3	4	146	1	0	0	0	0	1	0	0	0	5682	101	4	5	817	5	FASLG	1	172635113	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	3054264	172635113	76615508	29	80584											
TNN	63923	broad.mit.edu	37	chr1	175087841	175087841	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccagggaggttccagtggGgaaggagcagagcagcactg	18	8	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:175087841G>T	uc001gkl.1	+	11	2644	c.2531G>T	c.(2530-2532)GGG>GTG	p.G844V		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	844	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTTCCAGTGGGGAAGGAGCAG	0.617													T	175087841	G	T	175087841	3	4	146	1	0	0	0	0	1	0	0	0	16320	1232	43	5	2569	5	TNN	1	175087841	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	2452728	175087841	74162780	30	80585											
MR1	3140	broad.mit.edu	37	chr1	181022743	181022743	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cctcttgtgatgaaagctgtCtctgggtccattgtccttgt	10	10	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:181022743C>G	uc001goq.1	+	5	920	c.915C>G	c.(913-915)GTC>GTG	p.V305V	MR1_uc001gor.1_Silent_p.V260V|MR1_uc001gos.1_Silent_p.V213V|MR1_uc010pns.1_Intron	NM_001531	NP_001522	Q95460	HMR1_HUMAN	major histocompatibility complex, class	305	Helical; (Potential).				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			skin(1)	1						TGAAAGCTGTCTCTGGGTCCA	0.493													G	181022743	C	G	181022743	2	3	146	1	0	0	0	0	0	0	0	1	9752	900	32	5		5	MR1	1	181022743	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	5934902	181022743	68227878	31	80586											
PTGS2	5743	broad.mit.edu	37	chr1	186645623	186645623	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtattagcctgcttgtctGgaacaactgctcatcacccc	7	14	3	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:186645623G>A	uc001gsb.2	-	7	1083	c.946C>T	c.(946-948)CAG>TAG	p.Q316*	PTGS2_uc009wyo.2_Nonsense_Mutation_p.Q163*	NM_000963	NP_000954	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 precursor	316					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|central_nervous_system(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	CTGCTTGTCTGGAACAACTGC	0.418													A	186645623	G	A	186645623	4	1	146	1	0	0	0	0	0	1	0	0	12756	1357	47	4	884	4	PTGS2	1	186645623	Nonsense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	5622880	186645623	62604998	32	80587											
FAM5C	339479	broad.mit.edu	37	chr1	190195232	190195232	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgattcctcaaagtcactgTtgtaagctttccaggtttca	7	10	3	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:190195232T>C	uc001gse.1	-	6	1173	c.941A>G	c.(940-942)AAC>AGC	p.N314S	FAM5C_uc010pot.1_Missense_Mutation_p.N212S	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	314						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					AAAGTCACTGTTGTAAGCTTT	0.353													C	190195232	T	C	190195232	3	2	146	1	0	0	0	0	1	0	0	0	5594	1725	60	3	1371	3	FAM5C	1	190195232	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	3549609	190195232	59055389	33	80588											
RGS18	64407	broad.mit.edu	37	chr1	192127852	192127852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagttaatacatggttcaGgaaaagaagaaacaagcaaa	8	5	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:192127852G>A	uc001gsg.2	+	1	261	c.85G>A	c.(85-87)GGA>AGA	p.G29R		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	regulator of G-protein signalling 18	29					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)	3						ACATGGTTCAGGAAAAGAAGA	0.279													A	192127852	G	A	192127852	3	1	146	1	0	0	0	0	1	0	0	0	13300	1001	35	4	87	4	RGS18	1	192127852	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	1932620	192127852	57122769	34	80589											
CAMSAP1L1	23271	broad.mit.edu	37	chr1	200819236	200819236	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaaaatgttaatctgatTgaagtttccctctcagattt	5	8	2	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:200819236T>G	uc001gvl.2	+	12	3642	c.3372T>G	c.(3370-3372)ATT>ATG	p.I1124M	CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.I1113M|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.I1097M	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	1124						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TTAATCTGATTGAAGTTTCCC	0.413													G	200819236	T	G	200819236	3	3	146	1	0	0	0	0	1	0	0	0	2612	1800	63	5	3381	5	CAMSAP1L1	1	200819236	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	8691384	200819236	48431385	35	80590											
CENPF	1063	broad.mit.edu	37	chr1	214795534	214795534	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctccaactggagaaagcaaaAgtggaattaattgaaaaaga	9	5	0	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:214795534A>T	uc001hkm.2	+	7	1152	c.978A>T	c.(976-978)AAA>AAT	p.K326N		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	326	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).|Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAAAGCAAAAGTGGAATTAA	0.388													T	214795534	A	T	214795534	3	4	146	1	0	0	0	0	1	0	0	0	3231	69	3	5	1000	5	CENPF	1	214795534	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	13976298	214795534	34455087	36	80591											
USH2A	7399	broad.mit.edu	37	chr1	215848522	215848522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaggtatgcccagctgaaTtccaagtgtagattttatat	8	7	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:215848522T>C	uc001hku.1	-	63	13118	c.12731A>G	c.(12730-12732)AAT>AGT	p.N4244S		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4244	Extracellular (Potential).|Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCCAGCTGAATTCCAAGTGTA	0.318										HNSCC(13;0.011)			C	215848522	T	C	215848522	3	2	146	1	0	0	0	0	1	0	0	0	17033	1493	52	3	2917	3	USH2A	1	215848522	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	1052988	215848522	33402099	37	80592											
ESRRG	2104	broad.mit.edu	37	chr1	216680463	216680463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcttcataatcctgcaGcgcttcatgtaagacatcct	7	13	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:216680463G>A	uc001hkw.1	-	7	1361	c.1195C>T	c.(1195-1197)CTG>TTG	p.L399L	ESRRG_uc001hky.1_Silent_p.L376L|ESRRG_uc009xdp.1_Silent_p.L376L|ESRRG_uc001hkz.1_Silent_p.L337L|ESRRG_uc010puc.1_Silent_p.L376L|ESRRG_uc001hla.1_Silent_p.L376L|ESRRG_uc001hlb.1_Silent_p.L376L|ESRRG_uc010pud.1_Silent_p.L207L|ESRRG_uc001hlc.1_Silent_p.L376L|ESRRG_uc001hld.1_Silent_p.L376L|ESRRG_uc001hkx.1_Silent_p.L411L|ESRRG_uc009xdo.1_Silent_p.L376L	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	399					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TAATCCTGCAGCGCTTCATGT	0.478													A	216680463	G	A	216680463	2	1	146	1	0	0	0	0	0	0	0	1	5262	962	34	2		2	ESRRG	1	216680463	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	831941	216680463	32570158	38	80593											
PARP1	142	broad.mit.edu	37	chr1	226555962	226555962	+	Frame_Shift_Del	DEL	G	G	-													cccaaagtcgtgggggatcaGggtgtaaaagcgatttgaga							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:226555961_226555961AG>A	uc001hqd.4	-	15	2387	c.2216_2216CT>T	c.(2215-2217)ctgfs	p.L739fs		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	739	PARP alpha-helical.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding	p.T738T(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GTGGGGGATCAGGGTGTAAAA	0.567								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					-	226555962	G	-	226555962	7	5	146	1	0	1	0	1	0	0	0	0	11454	991	35	0	861	0	PARP1	1	226555962	Frame_Shift_Del	DEL	G	TCGA-CD-8529-01A-11D-2340-08	9875499	226555962	22694659	39	80594											
URB2	9816	broad.mit.edu	37	chr1	229772997	229772997	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacttactgtccctggtcaaGagtgacttccctatccagct	7	13	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:229772997G>A	uc001hts.1	+	4	2773	c.2637G>A	c.(2635-2637)AAG>AAA	p.K879K	URB2_uc009xfd.1_Silent_p.K879K	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	879						nucleolus				central_nervous_system(2)|ovary(1)	3						CCCTGGTCAAGAGTGACTTCC	0.502													A	229772997	G	A	229772997	2	1	146	1	0	0	0	0	0	0	0	1	17022	933	33	4		4	URB2	1	229772997	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	3217035	229772997	19477624	40	80595											
LYST	1130	broad.mit.edu	37	chr1	235976313	235976313	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aggtatcttccataccagtgGaaggagagacagaagaagag	13	6	1	4			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:235976313G>C	uc001hxj.2	-	4	416	c.241C>G	c.(241-243)CCA>GCA	p.P81A	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.P81A	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	81					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CATACCAGTGGAAGGAGAGAC	0.378									Chediak-Higashi_syndrome				C	235976313	G	C	235976313	3	2	146	1	0	0	0	0	1	0	0	0	9128	1174	41	5	11364	5	LYST	1	235976313	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	6203316	235976313	13274308	41	80596											
OPN3	23596	broad.mit.edu	37	chr1	241761205	241761205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatccaacagaccaggaagGtgaatatcattaaaaagcac	8	9	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:241761205G>A	uc001hza.2	-	3	933	c.788C>T	c.(787-789)ACC>ATC	p.T263I	OPN3_uc001hzb.2_RNA|OPN3_uc001hzc.2_RNA	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	opsin 3	263	Helical; Name=6; (Potential).				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity				0	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GACCAGGAAGGTGAATATCAT	0.393													A	241761205	G	A	241761205	3	1	146	1	0	0	0	0	1	0	0	0	10881	1261	44	4	428	4	OPN3	1	241761205	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	5784892	241761205	7489416	42	80597											
OR2L3	391192	broad.mit.edu	37	chr1	248224783	248224783	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaagatccctgcgatctcCaacagaggacaaggttctgg	10	12	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:248224783C>A	uc001idx.1	+	1	800	c.800C>A	c.(799-801)CCA>CAA	p.P267Q	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTGCGATCTCCAACAGAGGAC	0.507													A	248224783	C	A	248224783	3	1	146	1	0	0	0	0	1	0	0	0	11008	594	21	5	802	5	OR2L3	1	248224783	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	6463578	248224783	1025838	43	80598											
PGBD2	267002	broad.mit.edu	37	chr1	249212076	249212076	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctgtgggcatagagccagtGaggctgaccagtcgtcactc	14	11	1	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr1:249212076G>T	uc001ifh.2	+	3	1440	c.1293G>T	c.(1291-1293)GTG>GTT	p.V431V	PGBD2_uc001ifg.2_Silent_p.V180V|PGBD2_uc009xhd.2_Silent_p.V428V	NM_170725	NP_733843	Q6P3X8	PGBD2_HUMAN	hypothetical protein LOC267002 isoform a	431										ovary(1)	1	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TAGAGCCAGTGAGGCTGACCA	0.542													T	249212076	G	T	249212076	2	4	146	1	0	0	0	0	0	0	0	1	11781	1277	45	5		5	PGBD2	1	249212076	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	987293	249212076	38545	44	80599											
CALM2	805	broad.mit.edu	37	chr2	47389473	47389473	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttcttcttcactgtctgtGtctttcatttttcttgccat	4	10	7	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:47389473G>T	uc002rvt.2	-	4	395	c.237C>A	c.(235-237)GAC>GAA	p.D79E	C2orf61_uc010fbd.2_Intron|CALM2_uc010fbe.2_Intron	NM_001743	NP_001734	P62158	CALM_HUMAN	calmodulin 2	79	EF-hand 2.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	p.0?(2)			0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	CACTGTCTGTGTCTTTCATTT	0.368													T	47389473	G	T	47389473	3	4	146	1	0	0	0	0	1	0	0	0	2585	1368	48	5	224	5	CALM2	2	47389473	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08		47389473	195809900	45	80600											
NRXN1	9378	broad.mit.edu	37	chr2	50318609	50318609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatctgtcccaacattaaaCttaactccaatttttccctg	2	13	2	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:50318609C>T	uc010fbp.2	-	3	1272	c.465G>A	c.(463-465)AAG>AAA	p.K155K	NRXN1_uc002rxb.3_Silent_p.K862K|NRXN1_uc010fbq.2_Silent_p.K1230K|NRXN1_uc002rxe.3_Silent_p.K1190K	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	155	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAACATTAAACTTAACTCCAA	0.378													T	50318609	C	T	50318609	2	4	146	1	0	0	0	0	0	0	0	1	10665	564	20	4		4	NRXN1	2	50318609	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	2929136	50318609	192880764	46	80601											
CLEC4F	165530	broad.mit.edu	37	chr2	71039583	71039583	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgctcgcagctctgacctgcTcctccttggaggccacagat	10	15	1	2	rs145897327	byFrequency	TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:71039583T>A	uc002shf.2	-	5	1612	c.1535A>T	c.(1534-1536)GAG>GTG	p.E512V	CLEC4F_uc010yqv.1_Missense_Mutation_p.E512V	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	C-type lectin, superfamily member 13	512	Extracellular (Potential).|C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(5)	5						TCTGACCTGCTCCTCCTTGGA	0.522													A	71039583	T	A	71039583	3	1	146	1	0	0	0	0	1	0	0	0	3516	1551	54	5	246	5	CLEC4F	2	71039583	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	20720974	71039583	172159790	47	80602											
RTKN	6242	broad.mit.edu	37	chr2	74659594	74659594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtctcccccttgctcacCgccggcttgtcttccccagc	7	21	3	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:74659594C>T	uc002sle.2	-	2	428	c.311G>A	c.(310-312)CGG>CAG	p.R104Q	RTKN_uc002slc.2_Missense_Mutation_p.R91Q|RTKN_uc002sld.2_Missense_Mutation_p.R54Q|RTKN_uc010ffe.1_Intron|RTKN_uc010fff.1_Missense_Mutation_p.R91Q|RTKN_uc010ffg.1_Missense_Mutation_p.R104Q	NM_001015055	NP_001015055	Q9BST9	RTKN_HUMAN	rhotekin isoform a	104					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			skin(1)	1						CCTTGCTCACCGCCGGCTTGT	0.637													T	74659594	C	T	74659594	3	4	146	1	0	0	0	0	1	0	0	0	13722	666	23	1	1424	1	RTKN	2	74659594	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	3620011	74659594	168539779	48	80603											
CNGA3	1261	broad.mit.edu	37	chr2	99013226	99013226	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagctggccgtggtggcTgatgatggggtcacccagtt	17	9	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:99013226T>A	uc002syt.2	+	8	2010	c.1593T>A	c.(1591-1593)GCT>GCA	p.A531A	CNGA3_uc002syu.2_Silent_p.A513A|CNGA3_uc010fij.2_Silent_p.A535A	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	531	cGMP.				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						CCGTGGTGGCTGATGATGGGG	0.557													A	99013226	T	A	99013226	2	1	146	1	0	0	0	0	0	0	0	1	3598	1567	55	5		5	CNGA3	2	99013226	Silent	SNP	T	TCGA-CD-8529-01A-11D-2340-08	24353632	99013226	144186147	49	80604											
AFF3	3899	broad.mit.edu	37	chr2	100185340	100185340	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atctgctttatgcttcattcGtttagcttcttgcataaaat	5	8	3	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:100185340G>C	uc002tag.2	-	18	3192	c.2956C>G	c.(2956-2958)CGA>GGA	p.R986G	AFF3_uc002taf.2_Missense_Mutation_p.R1011G	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	986					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						TGCTTCATTCGTTTAGCTTCT	0.378													C	100185340	G	C	100185340	3	2	146	1	0	0	0	0	1	0	0	0	358	1153	40	5	752	5	AFF3	2	100185340	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	1172114	100185340	143014033	50	80605											
ST6GAL2	84620	broad.mit.edu	37	chr2	107460196	107460196	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctgggtgggcgcggggcaGcgcctggcgtgcgtccaggc	22	12	0	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:107460196G>T	uc002tdq.2	-	2	357	c.238C>A	c.(238-240)CTG>ATG	p.L80M	ST6GAL2_uc002tdr.2_Missense_Mutation_p.L80M|ST6GAL2_uc002tds.3_Missense_Mutation_p.L80M	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	80	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						GCGCGGGGCAGCGCCTGGCGT	0.662													T	107460196	G	T	107460196	3	4	146	1	0	0	0	0	1	0	0	0	15221	962	34	5	1458	5	ST6GAL2	2	107460196	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	7274856	107460196	135739177	51	80606											
RANBP2	5903	broad.mit.edu	37	chr2	109389389	109389389	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgaagagaaggcaaaagcaGatacgttaaaacttccacct	8	8	0	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:109389389G>C	uc002tem.3	+	23	8305	c.8179G>C	c.(8179-8181)GAT>CAT	p.D2727H		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	2727	Interaction with SUMO1.|2 X 50 AA approximate repeats.|2.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						GGCAAAAGCAGATACGTTAAA	0.348													C	109389389	G	C	109389389	3	2	146	1	0	0	0	0	1	0	0	0	13028	942	33	5	8269	5	RANBP2	2	109389389	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	1929193	109389389	133809984	52	80607											
BUB1	699	broad.mit.edu	37	chr2	111395577	111395577	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacattctaagagcagtacAattagcctattacgtagggc	8	8	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:111395577A>C	uc002tgc.2	-	25	3334	c.3222T>G	c.(3220-3222)ATT>ATG	p.I1074M	BUB1_uc010yxh.1_Missense_Mutation_p.I1054M|BUB1_uc010fkb.2_Missense_Mutation_p.I1017M	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	1074	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AGAGCAGTACAATTAGCCTAT	0.343													C	111395577	A	C	111395577	3	2	146	1	0	0	0	0	1	0	0	0	1570	126	5	5	39	5	BUB1	2	111395577	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	2006188	111395577	131803796	53	80608											
RIF1	55183	broad.mit.edu	37	chr2	152320512	152320512	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgagaagactcttggggaaaCtagtgctaatgcagaaactg	12	6	1	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:152320512C>G	uc002txm.2	+	30	4608	c.4478C>G	c.(4477-4479)ACT>AGT	p.T1493S	RIF1_uc002txl.2_Missense_Mutation_p.T1493S|RIF1_uc002txn.2_Missense_Mutation_p.T1493S|RIF1_uc002txo.2_Missense_Mutation_p.T1493S|RIF1_uc002txp.2_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1493					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CTTGGGGAAACTAGTGCTAAT	0.378													G	152320512	C	G	152320512	3	3	146	1	0	0	0	0	1	0	0	0	13359	565	20	5	4592	5	RIF1	2	152320512	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	40924935	152320512	90878861	54	80609											
SCN3A	6328	broad.mit.edu	37	chr2	165987898	165987898	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atggcaatgatcttgagaacCatttctgctgtgaaaatccc	8	9	2	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:165987898C>G	uc002ucx.2	-	16	2913	c.2421G>C	c.(2419-2421)ATG>ATC	p.M807I	SCN3A_uc002ucy.2_Missense_Mutation_p.M758I|SCN3A_uc002ucz.2_Missense_Mutation_p.M758I|SCN3A_uc002uda.1_Missense_Mutation_p.M627I|SCN3A_uc002udb.1_Missense_Mutation_p.M627I	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	807	Helical; Name=S2 of repeat II; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	TCTTGAGAACCATTTCTGCTG	0.373													G	165987898	C	G	165987898	3	3	146	1	0	0	0	0	1	0	0	0	13918	594	21	5	3633	5	SCN3A	2	165987898	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	13667386	165987898	77211475	55	80610											
SCN2A	6326	broad.mit.edu	37	chr2	166201292	166201292	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacatgcatgactttttccaCtccttcctgatcgtgttccg	6	14	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:166201292C>A	uc002udc.2	+	16	3080	c.2790C>A	c.(2788-2790)CAC>CAA	p.H930Q	SCN2A_uc002udd.2_Missense_Mutation_p.H930Q|SCN2A_uc002ude.2_Missense_Mutation_p.H930Q	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	930	II.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	ACTTTTTCCACTCCTTCCTGA	0.502													A	166201292	C	A	166201292	3	1	146	1	0	0	0	0	1	0	0	0	13916	564	20	5	2944	5	SCN2A	2	166201292	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	213394	166201292	76998081	56	80611											
PHOSPHO2	493911	broad.mit.edu	37	chr2	170558070	170558070	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taaagaatgatgatgttgccAtgccacggaaaggatatacc	10	7	0	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:170558070A>T	uc002ufg.2	+	4	977	c.589A>T	c.(589-591)ATG>TTG	p.M197L	KLHL23_uc002ufh.1_Intron	NM_001008489	NP_001008489	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	197							metal ion binding|pyridoxal phosphatase activity			skin(1)	1						TGATGTTGCCATGCCACGGAA	0.378													T	170558070	A	T	170558070	3	4	146	1	0	0	0	0	1	0	0	0	11857	217	8	5	591	5	PHOSPHO2	2	170558070	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	4356778	170558070	72641303	57	80612											
DCAF17	80067	broad.mit.edu	37	chr2	172337582	172337582	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgtttaccagatgatatgTgacactggggaagaagaaga	12	4	0	6			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:172337582T>G	uc002ugx.2	+	14	1750	c.1521T>G	c.(1519-1521)TGT>TGG	p.C507W	DCAF17_uc010zdq.1_RNA|DCAF17_uc010zdr.1_RNA|DCAF17_uc010fqg.2_Missense_Mutation_p.C227W	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17 isoform 1	507						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus					0						AGATGATATGTGACACTGGGG	0.418													G	172337582	T	G	172337582	3	3	146	1	0	0	0	0	1	0	0	0	4269	1702	59	5	1575	5	DCAF17	2	172337582	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	1779512	172337582	70861791	58	80613											
DLX1	1745	broad.mit.edu	37	chr2	172950413	172950413	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgagaagagatgaccaTgaccaccatgccagaaagtc	10	13	0	5			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:172950413T>A	uc002uhl.2	+	1	206	c.8T>A	c.(7-9)ATG>AAG	p.M3K	DLX1_uc010fqj.1_Missense_Mutation_p.M3K|DLX1_uc002uhm.2_Missense_Mutation_p.M3K	NM_178120	NP_835221	P56177	DLX1_HUMAN	distal-less homeobox 1 isoform 1	3						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GAGATGACCATGACCACCATG	0.547													A	172950413	T	A	172950413	3	1	146	1	0	0	0	0	1	0	0	0	4570	1464	51	5	10	5	DLX1	2	172950413	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	612831	172950413	70248960	59	80614											
TTC30A	92104	broad.mit.edu	37	chr2	178481441	178481441	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	atcagtcataactacttattCcatcctataatctcataaat	1	10	3	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:178481441C>G	uc002ulo.2	-	1	2254	c.1989G>C	c.(1987-1989)TGG>TGC	p.W663C		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	663					cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			ACTACTTATTCCATCCTATAA	0.348													G	178481441	C	G	178481441	3	3	146	1	0	0	0	0	1	0	0	0	16695	856	30	5	12	5	TTC30A	2	178481441	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	5531028	178481441	64717932	60	80615											
SSFA2	6744	broad.mit.edu	37	chr2	182763743	182763743	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atctgattttgttcgtagcaAtaatatcttggccaaagaga	8	6	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:182763743A>T	uc002uoi.2	+	6	729	c.407A>T	c.(406-408)AAT>ATT	p.N136I	SSFA2_uc002uoh.2_Missense_Mutation_p.N136I|SSFA2_uc002uoj.2_Missense_Mutation_p.N136I|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_5'UTR|SSFA2_uc002uol.2_5'UTR	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	136						cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GTTCGTAGCAATAATATCTTG	0.313													T	182763743	A	T	182763743	3	4	146	1	0	0	0	0	1	0	0	0	15182	101	4	5	429	5	SSFA2	2	182763743	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	4282302	182763743	60435630	61	80616											
PMS1	5378	broad.mit.edu	37	chr2	190742011	190742011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacagggagaagcagtgcGtctatccagacaattaccca	11	10	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:190742011G>A	uc002urh.3	+	13	3177	c.2648G>A	c.(2647-2649)CGT>CAT	p.R883H	PMS1_uc002urk.3_Missense_Mutation_p.R844H|PMS1_uc002uri.3_Missense_Mutation_p.R721H|PMS1_uc010zgc.1_Missense_Mutation_p.R707H|PMS1_uc010zgd.1_Missense_Mutation_p.R707H|PMS1_uc002urj.2_RNA|PMS1_uc010frz.2_Missense_Mutation_p.R199H|PMS1_uc002url.2_Missense_Mutation_p.R506H|PMS1_uc002urm.2_RNA	NM_000534	NP_000525	P54277	PMS1_HUMAN	postmeiotic segregation 1 isoform a	883					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GAAGCAGTGCGTCTATCCAGA	0.388			Mis|N			colorectal|endometrial|ovarian		Direct_reversal_of_damage|MMR					A	190742011	G	A	190742011	3	1	146	1	0	0	0	0	1	0	0	0	12142	1145	40	1	2694	1	PMS1	2	190742011	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	7978268	190742011	52457362	62	80617											
MYO1B	4430	broad.mit.edu	37	chr2	192141703	192141703	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcttttagaacctctcaatGaggagaccttcatcaacaac	5	11	4	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:192141703G>A	uc010fsg.2	+	2	337	c.82G>A	c.(82-84)GAG>AAG	p.E28K	MYO1B_uc002usq.2_Missense_Mutation_p.E28K|MYO1B_uc002usr.2_Missense_Mutation_p.E28K|MYO1B_uc002uss.1_Missense_Mutation_p.E28K	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	28	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			ACCTCTCAATGAGGAGACCTT	0.418													A	192141703	G	A	192141703	3	1	146	1	0	0	0	0	1	0	0	0	10069	1291	45	4	84	4	MYO1B	2	192141703	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	1399692	192141703	51057670	63	80618											
ABCA12	26154	broad.mit.edu	37	chr2	215866456	215866456	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gttctctaatttcagtcttaGaatatctaaagaggcaaagc	7	7	4	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:215866456G>C	uc002vew.2	-	21	2909	c.2689C>G	c.(2689-2691)CTA>GTA	p.L897V	ABCA12_uc002vev.2_Missense_Mutation_p.L579V|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	897					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCAGTCTTAGAATATCTAAA	0.313													C	215866456	G	C	215866456	3	2	146	1	0	0	0	0	1	0	0	0	30	933	33	5	5230	5	ABCA12	2	215866456	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	23724753	215866456	27332917	64	80619											
PECR	55825	broad.mit.edu	37	chr2	216930156	216930156	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccattgttcaccaagaaattGatcttaccaaaagtatctaa	4	9	3	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:216930156G>A	uc002vft.2	-	3	371	c.303C>T	c.(301-303)ATC>ATT	p.I101I	PECR_uc010zjq.1_RNA|PECR_uc002vfr.2_5'UTR|PECR_uc002vfs.2_5'UTR|PECR_uc002vfu.1_Silent_p.I120I	NM_018441	NP_060911	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	101					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity				0		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	CCAAGAAATTGATCTTACCAA	0.403													A	216930156	G	A	216930156	2	1	146	1	0	0	0	0	0	0	0	1	11717	1280	45	4		4	PECR	2	216930156	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	1063700	216930156	26269217	65	80620											
TNS1	7145	broad.mit.edu	37	chr2	218713225	218713225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccataggctccatggggtagGacttgtccagaccgttggtc	13	11	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:218713225G>A	uc002vgt.2	-	17	2038	c.1640C>T	c.(1639-1641)TCC>TTC	p.S547F	TNS1_uc002vgr.2_Missense_Mutation_p.S547F|TNS1_uc002vgs.2_Missense_Mutation_p.S547F|TNS1_uc010zjv.1_Missense_Mutation_p.S547F|TNS1_uc010fvj.1_Missense_Mutation_p.S615F|TNS1_uc010fvk.1_Missense_Mutation_p.S672F|TNS1_uc010fvi.1_Missense_Mutation_p.S234F	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	547						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CATGGGGTAGGACTTGTCCAG	0.667													A	218713225	G	A	218713225	3	1	146	1	0	0	0	0	1	0	0	0	16340	1174	41	4	3635	4	TNS1	2	218713225	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	1783069	218713225	24486148	66	80621											
SLC11A1	6556	broad.mit.edu	37	chr2	219254705	219254705	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcatcaacctctttgtcaTggctgtctttgggcaggcct	9	11	5	0	rs138751863		TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:219254705T>C	uc002vhv.2	+	9	1248	c.908T>C	c.(907-909)ATG>ACG	p.M303T	SLC11A1_uc010fvp.1_Missense_Mutation_p.M303T|SLC11A1_uc010fvq.1_Missense_Mutation_p.M236T|SLC11A1_uc010zkc.1_Missense_Mutation_p.M236T|SLC11A1_uc002vhu.1_Missense_Mutation_p.M98T|SLC11A1_uc002vhw.2_Missense_Mutation_p.M185T|SLC11A1_uc010fvr.2_Missense_Mutation_p.M98T	NM_000578	NP_000569	P49279	NRAM1_HUMAN	natural resistance-associated macrophage protein	303	Helical; (Potential).				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			ovary(3)|central_nervous_system(1)	4		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCTTTGTCATGGCTGTCTTT	0.557													C	219254705	T	C	219254705	3	2	146	1	0	0	0	0	1	0	0	0	14380	1464	51	3	942	3	SLC11A1	2	219254705	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	541480	219254705	23944668	67	80622											
CCDC108	255101	broad.mit.edu	37	chr2	219868898	219868898	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcctcttcttcctcctcttcCtcctccaactcttcttcttc	0	20	6	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:219868898C>G	uc002vjl.1	-	33	5415	c.5331G>C	c.(5329-5331)GAG>GAC	p.E1777D	uc010fvz.1_5'Flank|MIR375_hsa-mir-375|MI0000783_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1777	Glu-rich.					integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		cctcctcttcctcctccaact	0.144													G	219868898	C	G	219868898	3	3	146	1	0	0	0	0	1	0	0	0	2743	680	24	5	458	5	CCDC108	2	219868898	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	614193	219868898	23330475	68	80623											
CCDC108	255101	broad.mit.edu	37	chr2	219892492	219892492	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcagctctctggagtcacCcagaaggggcagtcagacct	12	13	3	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:219892492C>T	uc002vjl.1	-	13	2175	c.2091G>A	c.(2089-2091)TGG>TGA	p.W697*	CCDC108_uc010fwa.1_Nonsense_Mutation_p.W140*|CCDC108_uc010zkp.1_Nonsense_Mutation_p.W686*|CCDC108_uc010zkq.1_Nonsense_Mutation_p.W632*	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	697						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGGAGTCACCCAGAAGGGGC	0.632													T	219892492	C	T	219892492	4	4	146	1	0	0	0	0	0	1	0	0	2743	624	22	4	3778	4	CCDC108	2	219892492	Nonsense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	23594	219892492	23306881	69	80624											
MYEOV2	150678	broad.mit.edu	37	chr2	241066106	241066106	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgatattgtgctgtcttcGctgacctctcgcctgcttct	8	13	3	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr2:241066106G>T	uc002vyu.1	-	5	633	c.633C>A	c.(631-633)AGC>AGA	p.S211R		NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN	hypothetical protein LOC150678 isoform 1	Error:Variant_position_missing_in_Q8WXC6_after_alignment											0		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TGCTGTCTTCGCTGACCTCTC	0.473													T	241066106	G	T	241066106	3	4	146	1	0	0	0	0	1	0	0	0	10026	1078	38	5	129	5	MYEOV2	2	241066106	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	21173614	241066106	2133267	70	80625											
SETMAR	6419	broad.mit.edu	37	chr3	4354664	4354671	+	Frame_Shift_Del	DEL	CTCCCTGC	CTCCCTGC	-													cggatgcatttgtgtcaaaaCtccctgcctccctggcactt					rs112091561		TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:4354663_4354670ACTCCCTGC>A	uc011asp.2	+	1	305_312	c.238_245ACTCCCTGC>A	c.(238-246)actccctgcfs	p.T80fs	SUMF1_uc003bps.2_Intron|SETMAR_uc003bpw.4_Frame_Shift_Del_p.T67fs|SETMAR_uc011asq.2_Frame_Shift_Del_p.T80fs|SETMAR_uc003bpy.4_Intron|SETMAR_uc011asr.2_5'UTR|SETMAR_uc010hbx.3_5'UTR	NM_006515	NP_006506	Q53H47	SETMR_HUMAN	Homo sapiens SET domain and mariner transposase fusion gene (SETMAR), transcript variant 1, mRNA.	67	Histone-lysine N-methyltransferase.|Pre-SET.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		TTGTGTCAAAACTCCCTGCCTCCCTGGC	0.457								Chromatin Structure					-	4354671	CTCCCTGC	-	4354664	7	5	146	1	0	1	0	1	0	0	0	0	14140	565	20	0	245	0	SETMAR	3	4354664	Frame_Shift_Del	DEL	CTCCCTGC	TCGA-CD-8529-01A-11D-2340-08		4354664	193667766	71	80626											
VGLL4	9686	broad.mit.edu	37	chr3	11600159	11600159	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccgctttgatctggagccaCgtgtcacccagagctttggc	12	13	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:11600159C>G	uc003bwf.2	-	6	1110	c.744G>C	c.(742-744)ACG>ACC	p.T248T	VGLL4_uc010hdx.1_Silent_p.T254T|VGLL4_uc003bwg.2_Silent_p.T253T|VGLL4_uc010hdv.1_Silent_p.T164T|VGLL4_uc010hdw.1_Silent_p.T168T|VGLL4_uc011aun.1_Silent_p.T189T	NM_014667	NP_055482	Q14135	VGLL4_HUMAN	vestigial like 4 isoform b	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		TCTGGAGCCACGTGTCACCCA	0.657													G	11600159	C	G	11600159	2	3	146	1	0	0	0	0	0	0	0	1	17158	523	19	5		5	VGLL4	3	11600159	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	7245495	11600159	186422271	72	80627											
KAT2B	8850	broad.mit.edu	37	chr3	20168959	20168959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagatggccgtgttattgGtggtatctgtttccgtatgt	12	5	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:20168959G>A	uc003cbq.2	+	11	2113	c.1667G>A	c.(1666-1668)GGT>GAT	p.G556D		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	556	N-acetyltransferase.				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CGTGTTATTGGTGGTATCTGT	0.368													A	20168959	G	A	20168959	3	1	146	1	0	0	0	0	1	0	0	0	7982	1261	44	4	1709	4	KAT2B	3	20168959	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	8568800	20168959	177853471	73	80628											
STT3B	201595	broad.mit.edu	37	chr3	31663715	31663715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttttgagcactatttggGggatgacatgaaaagggaaa	13	3	0	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:31663715G>A	uc011axe.1	+	10	1454	c.1454G>A	c.(1453-1455)GGG>GAG	p.G485E		NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	source of immunodominant MHC-associated	485					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding				0						CACTATTTGGGGGATGACATG	0.428													A	31663715	G	A	31663715	3	1	146	1	0	0	0	0	1	0	0	0	15333	1232	43	4	1492	4	STT3B	3	31663715	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	11494756	31663715	166358715	74	80629											
SCN11A	11280	broad.mit.edu	37	chr3	38950566	38950566	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atctctgcagctacattcttGttctgctcctcatatgccat	5	13	4	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:38950566G>C	uc011ays.1	-	9	1420	c.1221C>G	c.(1219-1221)AAC>AAG	p.N407K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	407					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTACATTCTTGTTCTGCTCCT	0.468													C	38950566	G	C	38950566	3	2	146	1	0	0	0	0	1	0	0	0	13913	1368	48	5	4226	5	SCN11A	3	38950566	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	7286851	38950566	159071864	75	80630											
SCN11A	11280	broad.mit.edu	37	chr3	38951693	38951694	+	Missense_Mutation	DNP	CA	CA	GC													tacattcatattgtatggaaCaggcactagatattggaaac							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:38951693_38951694CA>GC	uc011ays.1	-	8	1163_1164	c.964_965TG>GC	c.(964-966)TGT>GCT	p.C322A		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	322	I.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTGTATGGAACAGGCACTAGAT	0.396													GC	38951694	CA	GC	38951693	3	3	146	1	0	0	0	0	1	0	0	0	13913	478	17	5	4486	5	SCN11A	3	38951693	Missense_Mutation	DNP	CA	TCGA-CD-8529-01A-11D-2340-08	1127	38951693	159070737	76	80631											
COL7A1	1294	broad.mit.edu	37	chr3	48614351	48614351	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgcctgaatctcctttctctCcctaaggaagacaaggatgc	8	13	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:48614351C>G	uc003ctz.2	-	66	5571	c.5570G>C	c.(5569-5571)GGA>GCA	p.G1857A		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1857	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCTTTCTCTCCCTAAGGAAG	0.562													G	48614351	C	G	48614351	3	3	146	1	0	0	0	0	1	0	0	0	3704	869	30	5	3476	5	COL7A1	3	48614351	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	9662658	48614351	149408079	77	80632											
COL7A1	1294	broad.mit.edu	37	chr3	48614432	48614432	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgggggactttaccttcctcCcgtcttctccagggtcccca	9	16	2	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:48614432C>G	uc003ctz.2	-	65	5562	c.5561G>C	c.(5560-5562)GGG>GCG	p.G1854A		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1854	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACCTTCCTCCCGTCTTCTCC	0.552													G	48614432	C	G	48614432	3	3	146	1	0	0	0	0	1	0	0	0	3704	623	22	5	3489	5	COL7A1	3	48614432	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	81	48614432	149407998	78	80633											
COL7A1	1294	broad.mit.edu	37	chr3	48625317	48625317	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtcgctggctccagcccGtccaggtgatagctgctgag	14	12	0	2	rs138537589	by1000genomes	TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:48625317G>A	uc003ctz.2	-	21	2767	c.2766C>T	c.(2764-2766)GAC>GAT	p.D922D		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	922	Fibronectin type-III 8.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTCCAGCCCGTCCAGGTGAT	0.667													A	48625317	G	A	48625317	2	1	146	1	0	0	0	0	0	0	0	1	3704	1136	40	1		1	COL7A1	3	48625317	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	10885	48625317	149397113	79	80634											
BSN	8927	broad.mit.edu	37	chr3	49700849	49700849	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgcaaggtcggcaggcagCtccaggaccacagcagtcac	13	14	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:49700849C>A	uc003cxe.3	+	7	11372	c.11258C>A	c.(11257-11259)GCT>GAT	p.A3753D		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	3753					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CGGCAGGCAGCTCCAGGACCA	0.642													A	49700849	C	A	49700849	3	1	146	1	0	0	0	0	1	0	0	0	1530	797	28	5	11284	5	BSN	3	49700849	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	1075532	49700849	148321581	80	80635											
UBA7	7318	broad.mit.edu	37	chr3	49847796	49847796	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggatccagtgggtaggtgagCgggatcacctgtaagtctgg	17	7	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:49847796C>G	uc003cxr.2	-	13	1704	c.1533G>C	c.(1531-1533)CCG>CCC	p.P511P		NM_003335	NP_003326	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	511	1-2.|2 approximate repeats.				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)		GGTAGGTGAGCGGGATCACCT	0.597													G	49847796	C	G	49847796	2	3	146	1	0	0	0	0	0	0	0	1	16830	755	27	5		5	UBA7	3	49847796	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	146947	49847796	148174634	81	80636											
LMOD3	56203	broad.mit.edu	37	chr3	69171378	69171378	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttgtcagtttgatctttctGaatcattcccacgggaaggc	9	10	4	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:69171378G>A	uc003dns.2	-	1	369	c.160C>T	c.(160-162)CAG>TAG	p.Q54*	LMOD3_uc003dnt.2_Nonsense_Mutation_p.Q54*	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	54						cytoplasm|cytoskeleton	tropomyosin binding			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TGATCTTTCTGAATCATTCCC	0.458													A	69171378	G	A	69171378	4	1	146	1	0	0	0	0	0	1	0	0	8858	1299	45	4	1534	4	LMOD3	3	69171378	Nonsense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	19323582	69171378	128851052	82	80637											
OR5K4	403278	broad.mit.edu	37	chr3	98073414	98073414	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaggtaaagcattttcTacctgtgcatcccactttct	8	10	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:98073414T>A	uc011bgv.1	+	1	717	c.717T>A	c.(715-717)TCT>TCA	p.S239S		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K,	239	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						AAGCATTTTCTACCTGTGCAT	0.373													A	98073414	T	A	98073414	2	1	146	1	0	0	0	0	0	0	0	1	11169	1509	53	5		5	OR5K4	3	98073414	Silent	SNP	T	TCGA-CD-8529-01A-11D-2340-08	28902036	98073414	99949016	83	80638											
MYH15	22989	broad.mit.edu	37	chr3	108135665	108135665	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatagatacattactttggtCtccttttccagctgccctct	5	12	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:108135665C>A	uc003dxa.1	-	30	4059	c.4002G>T	c.(4000-4002)GAG>GAT	p.E1334D		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1334	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						TTACTTTGGTCTCCTTTTCCA	0.393													A	108135665	C	A	108135665	3	1	146	1	0	0	0	0	1	0	0	0	10034	912	32	5	1890	5	MYH15	3	108135665	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	10062251	108135665	89886765	84	80639											
DPPA4	55211	broad.mit.edu	37	chr3	109050752	109050752	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagcttcaattgttggcacCaggcccgcagaatgtcccgg	11	13	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:109050752C>A	uc003dxq.3	-	3	360	c.305G>T	c.(304-306)TGG>TTG	p.W102L	DPPA4_uc011bho.1_Missense_Mutation_p.W102L|DPPA4_uc011bhp.1_Missense_Mutation_p.W102L	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	102						nucleus	protein binding			upper_aerodigestive_tract(1)	1						TTGTTGGCACCAGGCCCGCAG	0.532													A	109050752	C	A	109050752	3	1	146	1	0	0	0	0	1	0	0	0	4736	595	21	5	629	5	DPPA4	3	109050752	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	915087	109050752	88971678	85	80640											
DPPA4	55211	broad.mit.edu	37	chr3	109050776	109050776	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgcagaatgtcccggtgaAtcagattaacaggtggcagt	12	10	1	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:109050776A>C	uc003dxq.3	-	3	336	c.281T>G	c.(280-282)ATT>AGT	p.I94S	DPPA4_uc011bho.1_Missense_Mutation_p.I94S|DPPA4_uc011bhp.1_Missense_Mutation_p.I94S	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	94						nucleus	protein binding			upper_aerodigestive_tract(1)	1						GTCCCGGTGAATCAGATTAAC	0.547													C	109050776	A	C	109050776	3	2	146	1	0	0	0	0	1	0	0	0	4736	101	4	5	653	5	DPPA4	3	109050776	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	24	109050776	88971654	86	80641											
NDUFB4	4710	broad.mit.edu	37	chr3	120315275	120315275	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctcgacccagccgaataCaacatatctccggaaacccg	6	17	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:120315275C>T	uc003edu.2	+	1	148	c.69C>T	c.(67-69)TAC>TAT	p.Y23Y	NDUFB4_uc003edt.2_Silent_p.Y23Y	NM_004547	NP_004538	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	23					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	CAGCCGAATACAACATATCTC	0.597													T	120315275	C	T	120315275	2	4	146	1	0	0	0	0	0	0	0	1	10283	489	17	4		4	NDUFB4	3	120315275	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	11264499	120315275	77707155	87	80642											
COL6A6	131873	broad.mit.edu	37	chr3	130300458	130300458	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcaactcaggagaaagggCagactttgcttgaaggtcag	12	8	3	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:130300458C>A	uc010htl.2	+	8	3632	c.3601C>A	c.(3601-3603)CAG>AAG	p.Q1201K	COL6A6_uc003eni.3_5'Flank	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1201	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GGAGAAAGGGCAGACTTTGCT	0.458													A	130300458	C	A	130300458	3	1	146	1	0	0	0	0	1	0	0	0	3703	711	25	5	3631	5	COL6A6	3	130300458	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	9985183	130300458	67721972	88	80643											
RAB6B	51560	broad.mit.edu	37	chr3	133558433	133558433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgacgtcgtcgatccaCttagaggtctgttggaagga	13	9	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:133558433C>T	uc003epy.2	-	5	699	c.318G>A	c.(316-318)AAG>AAA	p.K106K	RAB6B_uc011blu.1_Silent_p.K93K	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	106					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			pancreas(1)	1						CGTCGATCCACTTAGAGGTCT	0.547													T	133558433	C	T	133558433	2	4	146	1	0	0	0	0	0	0	0	1	12952	564	20	4		4	RAB6B	3	133558433	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	3257975	133558433	64463997	89	80644											
XRN1	54464	broad.mit.edu	37	chr3	142141456	142141456	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcaggatggtaacatatgttCcataaagaagaggcagtgca	12	6	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:142141456C>A	uc003eus.2	-	8	1002	c.935G>T	c.(934-936)GGA>GTA	p.G312V	XRN1_uc003eut.2_Missense_Mutation_p.G312V|XRN1_uc003euu.2_Missense_Mutation_p.G312V|XRN1_uc003euv.1_Missense_Mutation_p.G173V|XRN1_uc003euw.2_Missense_Mutation_p.G312V|XRN1_uc011bnh.1_Missense_Mutation_p.G102V	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	312					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						AACATATGTTCCATAAAGAAG	0.358													A	142141456	C	A	142141456	3	1	146	1	0	0	0	0	1	0	0	0	17456	855	30	5	4325	5	XRN1	3	142141456	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	8583023	142141456	55880974	90	80645											
CP	1356	broad.mit.edu	37	chr3	148899805	148899805	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgagtacctggtaatgttggAgtaactgtagaactctctgt	11	6	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:148899805A>T	uc003ewy.3	-	14	2794	c.2541T>A	c.(2539-2541)ACT>ACA	p.T847T	CP_uc011bnr.1_RNA|CP_uc003eww.3_5'Flank|CP_uc003ewx.3_Silent_p.T628T|CP_uc003ewz.2_Silent_p.T847T	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	847	Plastocyanin-like 5.|F5/8 type A 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTAATGTTGGAGTAACTGTAG	0.468													T	148899805	A	T	148899805	2	4	146	1	0	0	0	0	0	0	0	1	3787	291	11	5		5	CP	3	148899805	Silent	SNP	A	TCGA-CD-8529-01A-11D-2340-08	6758349	148899805	49122625	91	80646											
TSC22D2	9819	broad.mit.edu	37	chr3	150127780	150127780	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttgaccagactgcggagcggGacagcggcctgggcgccacc	16	14	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:150127780G>C	uc003exv.2	+	1	993	c.643G>C	c.(643-645)GAC>CAC	p.D215H	TSC22D2_uc003exw.2_RNA|TSC22D2_uc003exx.2_Missense_Mutation_p.D215H	NM_014779	NP_055594	O75157	T22D2_HUMAN	TSC22 domain family, member 2	215							sequence-specific DNA binding transcription factor activity			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGCGGAGCGGGACAGCGGCCT	0.607													C	150127780	G	C	150127780	3	2	146	1	0	0	0	0	1	0	0	0	16605	1174	41	5	645	5	TSC22D2	3	150127780	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	1227975	150127780	47894650	92	80647											
CCNL1	57018	broad.mit.edu	37	chr3	156867644	156867644	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catggcttggaggctggagaAaatccacccagggttgaaag	14	8	0	2	rs148365707	byFrequency	TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:156867644A>C	uc003fbf.2	-	8	1601	c.1002T>G	c.(1000-1002)TTT>TTG	p.F334L	CCNL1_uc003fbd.1_Missense_Mutation_p.F334L|CCNL1_uc003fbe.2_Missense_Mutation_p.F128L|CCNL1_uc003fbg.2_RNA|CCNL1_uc011bor.1_RNA|CCNL1_uc003fbi.1_Missense_Mutation_p.F179L	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	cyclin L1	334					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			lung(3)|breast(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			AGGCTGGAGAAAATCCACCCA	0.393													C	156867644	A	C	156867644	3	2	146	1	0	0	0	0	1	0	0	0	2931	11	1	5	594	5	CCNL1	3	156867644	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	6739864	156867644	41154786	93	80648											
TRA2B	6434	broad.mit.edu	37	chr3	185643391	185643391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaccgggtataatgccttCgggagcttcttctggatcta	12	9	3	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:185643391C>T	uc003fpv.2	-	3	470	c.194G>A	c.(193-195)CGA>CAA	p.R65Q	TRA2B_uc003fpt.2_5'Flank|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_5'UTR|TRA2B_uc003fpw.2_Missense_Mutation_p.R65Q	NM_004593	NP_004584	P62995	TRA2B_HUMAN	splicing factor, arginine/serine-rich 10	65	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)	2						ATAATGCCTTCGGGAGCTTCT	0.463													T	185643391	C	T	185643391	3	4	146	1	0	0	0	0	1	0	0	0	16431	884	31	1	700	1	TRA2B	3	185643391	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	28775747	185643391	12379039	94	80649											
AHSG	197	broad.mit.edu	37	chr3	186334974	186334974	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggtttcctctctccgagcAgactcagccgaggacgtgcg	12	14	2	1	rs145054587		TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:186334974A>G	uc003fqk.3	+	4	491	c.410_splice	c.e4-2	p.D137_splice	AHSG_uc003fqj.2_Splice_Site_p.D137_splice|AHSG_uc003fql.3_Silent_p.A137A|AHSG_uc003fqm.3_Splice_Site_p.D136_splice|AHSG_uc010hyp.2_Splice_Site_p.D100_splice	NM_001622	NP_001613	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein						acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding				0	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CTCTCCGAGCAGACTCAGCCG	0.642											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	186334974	A	G	186334974	5	3	146	1	0	0	0	0	0	0	1	0	420	202	7	3	422	3	AHSG	3	186334974	Splice_Site	SNP	A	TCGA-CD-8529-01A-11D-2340-08	691583	186334974	11687456	95	80650											
ATP13A3	79572	broad.mit.edu	37	chr3	194147850	194147851	+	Frame_Shift_Ins	INS	-	-	A													caaggttgctgtttgacccaINSaaaaaaacccaaagattgaa							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:194147849_194147850C>CA	uc003fty.4	-	27	3481_3482	c.3079_3080G>TG	c.(3079-3081)tggfs	p.W1027fs	ATP13A3_uc003ftx.4_5'Flank	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	1027					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CTGTTTGACCCAAAAAAAACCC	0.381													A	194147851	-	A	194147850	7	5	146	1	0	1	1	0	0	0	0	0	1125	130	5	0	621	0	ATP13A3	3	194147850	Frame_Shift_Ins	INS	-	TCGA-CD-8529-01A-11D-2340-08	7812876	194147850	3874580	96	80651											
PPP1R2	5504	broad.mit.edu	37	chr3	195269755	195269755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtcgacattcccgcgggGctgttcggccgacgccacca	12	17	0	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr3:195269755G>A	uc003fup.2	-	1	470	c.94C>T	c.(94-96)CCC>TCC	p.P32S	PPP1R2_uc003fuq.3_Missense_Mutation_p.P32S	NM_006241	NP_006232	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory subunit 2	32					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			urinary_tract(1)	1	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		TTCCCGCGGGGCTGTTCGGCC	0.682													A	195269755	G	A	195269755	3	1	146	1	0	0	0	0	1	0	0	0	12370	1203	42	2	547	2	PPP1R2	3	195269755	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	1121905	195269755	2752675	97	80652											
PIGG	54872	broad.mit.edu	37	chr4	533012	533012	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccagttttcacgtacatcGttttggtgacatctctgcgt	8	10	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr4:533012G>T	uc003gak.3	+	13	2942	c.2806G>T	c.(2806-2808)GTT>TTT	p.V936F	PIGG_uc003gaj.3_Missense_Mutation_p.V928F|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.V803F|PIGG_uc003gal.3_Missense_Mutation_p.V847F	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	936	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	p.V928I(1)		central_nervous_system(2)|ovary(1)|skin(1)	4						CACGTACATCGTTTTGGTGAC	0.398													T	533012	G	T	533012	3	4	146	1	0	0	0	0	1	0	0	0	11888	1145	40	5	2856	5	PIGG	4	533012	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08		533012	190621264	98	80653											
HTT	3064	broad.mit.edu	37	chr4	3190712	3190712	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggttggtattcttttagaaGacattgttacaaaacagctg	9	5	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr4:3190712G>C	uc011bvq.1	+	41	5411	c.5266G>C	c.(5266-5268)GAC>CAC	p.D1756H		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1754					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCTTTTAGAAGACATTGTTAC	0.378													C	3190712	G	C	3190712	3	2	146	1	0	0	0	0	1	0	0	0	7457	942	33	5	5418	5	HTT	4	3190712	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	2657700	3190712	187963564	99	80654											
HGFAC	3083	broad.mit.edu	37	chr4	3446393	3446393	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacgggggcacctgccacctGatcgtggccaccgggaccac	13	16	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr4:3446393G>A	uc003ghc.2	+	7	777	c.774G>A	c.(772-774)CTG>CTA	p.L258L	HGFAC_uc010icw.2_Silent_p.L258L	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	258	EGF-like 2.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTGCCACCTGATCGTGGCCA	0.721													A	3446393	G	A	3446393	2	1	146	1	0	0	0	0	0	0	0	1	7086	1277	45	4		4	HGFAC	4	3446393	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	255681	3446393	187707883	100	80655											
CRMP1	1400	broad.mit.edu	37	chr4	5830377	5830377	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggcactccataccctcgaAgatgttgtactccaccgcct	8	15	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr4:5830377A>G	uc003gip.2	-	13	1401	c.1300T>C	c.(1300-1302)TTC>CTC	p.F434L	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Missense_Mutation_p.F346L|CRMP1_uc003giq.2_Missense_Mutation_p.F434L|CRMP1_uc003gir.2_Missense_Mutation_p.F429L|CRMP1_uc003gis.2_Missense_Mutation_p.F548L	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	434					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		ATACCCTCGAAGATGTTGTAC	0.512													G	5830377	A	G	5830377	3	3	146	1	0	0	0	0	1	0	0	0	3890	72	3	3	430	3	CRMP1	4	5830377	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	2383984	5830377	185323899	101	80656											
KIAA0232	9778	broad.mit.edu	37	chr4	6862720	6862720	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtctaaagtctgttcttactCtagctcttcttcatcatcca	4	12	8	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr4:6862720C>G	uc003gjr.3	+	7	1074	c.611C>G	c.(610-612)TCT>TGT	p.S204C	KIAA0232_uc003gjq.3_Missense_Mutation_p.S204C	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	204	Poly-Ser.						ATP binding			ovary(2)	2						TGTTCTTACTCTAGCTCTTCT	0.438													G	6862720	C	G	6862720	3	3	146	1	0	0	0	0	1	0	0	0	8163	913	32	5	629	5	KIAA0232	4	6862720	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	1032343	6862720	184291556	102	80657											
GABRA2	2555	broad.mit.edu	37	chr4	46307710	46307711	+	Missense_Mutation	DNP	TC	TC	AA													aagtccaaatataagtgaccTctgaagttgtatatgcatct							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr4:46307710_46307711TC>AA	uc003gxc.3	-	6	1250_1251	c.577_578GA>TT	c.(577-579)GAG>TTG	p.E193L	GABRA2_uc010igc.2_Missense_Mutation_p.E193L|GABRA2_uc011bzc.1_Missense_Mutation_p.E138L|GABRA2_uc003gxe.2_Missense_Mutation_p.E193L	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	193	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATAAGTGACCTCTGAAGTTGTA	0.366													AA	46307711	TC	AA	46307710	3	1	146	1	0	0	0	0	1	0	0	0	6161	1551	54	5	793	5	GABRA2	4	46307710	Missense_Mutation	DNP	TC	TCGA-CD-8529-01A-11D-2340-08	39444990	46307710	144846566	103	80658											
KDR	3791	broad.mit.edu	37	chr4	55980320	55980320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagggtattcccagttgaaGtcaatccccacatttagttc	8	10	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr4:55980320G>A	uc003has.2	-	6	1073	c.771C>T	c.(769-771)GAC>GAT	p.D257D	KDR_uc003hat.1_Silent_p.D257D|KDR_uc011bzx.1_Silent_p.D257D	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	257	Ig-like C2-type 3.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CCCAGTTGAAGTCAATCCCCA	0.403			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			A	55980320	G	A	55980320	2	1	146	1	0	0	0	0	0	0	0	1	8139	1020	36	4		4	KDR	4	55980320	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	9672610	55980320	135173956	104	80659											
IGJ	3512	broad.mit.edu	37	chr4	71522076	71522076	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tagcaggcatctggggttaaGgctgtttccaccattttggt	12	8	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr4:71522076G>C	uc003hfn.3	-	4	591	c.450C>G	c.(448-450)GCC>GCG	p.A150A	IGJ_uc010ihz.2_Silent_p.A166A	NM_144646	NP_653247	P01591	IGJ_HUMAN	immunoglobulin J chain	150					immune response	extracellular region	antigen binding				0			Lung(101;0.235)			CTGGGGTTAAGGCTGTTTCCA	0.443													C	71522076	G	C	71522076	2	2	146	1	0	0	0	0	0	0	0	1	7592	987	35	5		5	IGJ	4	71522076	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	15541756	71522076	119632200	105	80660											
MRPL1	65008	broad.mit.edu	37	chr4	78871018	78871018	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taatgaagtttgtaggcacaGaccgctgaatttgggtaagt	12	5	0	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr4:78871018G>A	uc003hku.2	+	8	1043	c.845G>A	c.(844-846)AGA>AAA	p.R282K	MRPL1_uc010iji.1_Intron	NM_020236	NP_064621	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1 precursor	282							RNA binding				0						TGTAGGCACAGACCGCTGAAT	0.348													A	78871018	G	A	78871018	3	1	146	1	0	0	0	0	1	0	0	0	9774	942	33	4	875	4	MRPL1	4	78871018	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	7348942	78871018	112283258	106	80661											
HELQ	113510	broad.mit.edu	37	chr4	84342825	84342825	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atacagtccaaatgttggtcTctttgagcaaggtataaaga	9	6	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr4:84342825T>A	uc003hom.2	-	15	3019	c.2840A>T	c.(2839-2841)GAG>GTG	p.E947V	HELQ_uc010ikb.2_Missense_Mutation_p.E880V|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	947							ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)|skin(1)	3						AATGTTGGTCTCTTTGAGCAA	0.353								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	84342825	T	A	84342825	3	1	146	1	0	0	0	0	1	0	0	0	7047	1551	54	5	481	5	HELQ	4	84342825	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	5471807	84342825	106811451	107	80662											
GPRIN3	285513	broad.mit.edu	37	chr4	90170714	90170714	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaactcacaggacacctgaTctttgctgctactgaggacg	10	11	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr4:90170714T>G	uc003hsm.1	-	2	1067	c.548A>C	c.(547-549)GAT>GCT	p.D183A		NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	183										ovary(3)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GGACACCTGATCTTTGCTGCT	0.507													G	90170714	T	G	90170714	3	3	146	1	0	0	0	0	1	0	0	0	6731	1435	50	5	1786	5	GPRIN3	4	90170714	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	5827889	90170714	100983562	108	80663											
DKK2	27123	broad.mit.edu	37	chr4	107956604	107956604	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgcagatcgattggcggcctGaccaggcgtctccccgccca	12	17	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr4:107956604G>A	uc003hyi.2	-	1	850	c.145C>T	c.(145-147)CAG>TAG	p.Q49*	DKK2_uc010ilw.1_Intron|DKK2_uc003hyj.1_Nonsense_Mutation_p.Q49*	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	49					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TTGGCGGCCTGACCAGGCGTC	0.597													A	107956604	G	A	107956604	4	1	146	1	0	0	0	0	0	1	0	0	4545	1299	45	4	650	4	DKK2	4	107956604	Nonsense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	17785890	107956604	83197672	109	80664											
CFI	3426	broad.mit.edu	37	chr4	110663684	110663684	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttcatagaaacgatttccGtaaaacttagagcagttgct	7	7	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr4:110663684G>T	uc003hzr.3	-	12	1705	c.1497C>A	c.(1495-1497)TAC>TAA	p.Y499*	CFI_uc003hzq.2_Nonsense_Mutation_p.Y296*|CFI_uc011cft.1_Nonsense_Mutation_p.Y507*|CFI_uc003hzs.3_Nonsense_Mutation_p.Y492*	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	499	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AACGATTTCCGTAAAACTTAG	0.358													T	110663684	G	T	110663684	4	4	146	1	0	0	0	0	0	1	0	0	3289	1140	40	5	262	5	CFI	4	110663684	Nonsense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	2707080	110663684	80490592	110	80665											
CFI	3426	broad.mit.edu	37	chr4	110663715	110663715	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagttgcttattagtttaActtcaccccactgaagtgaa	7	9	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr4:110663715A>G	uc003hzr.3	-	12	1674	c.1466T>C	c.(1465-1467)GTT>GCT	p.V489A	CFI_uc003hzq.2_Missense_Mutation_p.V286A|CFI_uc011cft.1_Missense_Mutation_p.V497A|CFI_uc003hzs.3_Missense_Mutation_p.V482A	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	489	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TATTAGTTTAACTTCACCCCA	0.343													G	110663715	A	G	110663715	3	3	146	1	0	0	0	0	1	0	0	0	3289	43	2	3	293	3	CFI	4	110663715	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	31	110663715	80490561	111	80666											
ENPEP	2028	broad.mit.edu	37	chr4	111397885	111397885	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtccactacgacctgcaCgtgaagcccctgttggagga	11	14	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr4:111397885C>T	uc003iab.3	+	1	657	c.315C>T	c.(313-315)CAC>CAT	p.H105H		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	105	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ACGACCTGCACGTGAAGCCCC	0.617													T	111397885	C	T	111397885	2	4	146	1	0	0	0	0	0	0	0	1	5128	535	19	1		1	ENPEP	4	111397885	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	734170	111397885	79756391	112	80667											
TLL1	7092	broad.mit.edu	37	chr4	166935594	166935594	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgctttttttcagggggatGtttctggataccattctccc	9	10	3	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr4:166935594G>C	uc003irh.1	+	8	1571	c.924G>C	c.(922-924)ATG>ATC	p.M308I	TLL1_uc011cjn.1_Missense_Mutation_p.M308I|TLL1_uc011cjo.1_Missense_Mutation_p.M132I	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	308	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCAGGGGGATGTTTCTGGATA	0.418													C	166935594	G	C	166935594	3	2	146	1	0	0	0	0	1	0	0	0	15942	1377	48	5	954	5	TLL1	4	166935594	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	55537709	166935594	24218682	113	80668											
CDH10	1008	broad.mit.edu	37	chr5	24537494	24537494	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaatgaacttacctacaAcagacatttcgggaacacta	6	9	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:24537494A>T	uc003jgr.1	-	3	853	c.521T>A	c.(520-522)GTT>GAT	p.V174D	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	174	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		CTTACCTACAACAGACATTTC	0.323										HNSCC(23;0.051)			T	24537494	A	T	24537494	3	4	146	1	0	0	0	0	1	0	0	0	3096	43	2	5	1885	5	CDH10	5	24537494	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08		24537494	156377766	114	80669											
SUB1	10923	broad.mit.edu	37	chr5	32599137	32599150	+	Frame_Shift_Del	DEL	GGATGGATCCTGAA	GGATGGATCCTGAA	-													aattgatattagagaatattGgatggatcctgaaggtgaaa							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:32599136_32599149TGGATGGATCCTGAA>T	uc003jhs.2	+	3	393_406	c.265_278TGGATGGATCCTGAA>T	c.(265-279)tggatggatcctgaafs	p.W89fs	SUB1_uc003jht.2_Non-coding_Transcript	NM_006713	NP_006704	P53999	TCP4_HUMAN	Homo sapiens SUB1 homolog (S. cerevisiae) (SUB1), mRNA.	89	Interaction with ssDNA.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus|transcription factor complex	protein binding|single-stranded DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TAGAGAATATTGGATGGATCCTGAAGGTGAAATG	0.35													-	32599150	GGATGGATCCTGAA	-	32599137	7	5	146	1	0	1	0	1	0	0	0	0	15361	1357	47	0	276	0	SUB1	5	32599137	Frame_Shift_Del	DEL	GGATGGATCCTGAA	TCGA-CD-8529-01A-11D-2340-08	8061643	32599137	148316123	115	80670											
UGT3A1	133688	broad.mit.edu	37	chr5	35955903	35955903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccatgggcacaccatgaCggatggcctccattacgctg	10	15	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:35955903C>T	uc003jjv.1	-	6	1296	c.1139G>A	c.(1138-1140)CGT>CAT	p.R380H	UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.R380H|UGT3A1_uc011cor.1_Missense_Mutation_p.R346H	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	380	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACACCATGACGGATGGCCTC	0.493													T	35955903	C	T	35955903	3	4	146	1	0	0	0	0	1	0	0	0	16960	536	19	1	440	1	UGT3A1	5	35955903	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	3356766	35955903	144959357	116	80671											
EGFLAM	133584	broad.mit.edu	37	chr5	38407142	38407142	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctctttgacatgccttgTgatgaaactctctgctctgc	9	11	3	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:38407142T>G	uc003jlc.1	+	8	1365	c.1041T>G	c.(1039-1041)TGT>TGG	p.C347W	EGFLAM_uc003jlb.1_Missense_Mutation_p.C347W|EGFLAM_uc003jle.1_Missense_Mutation_p.C113W|EGFLAM_uc003jlf.1_Intron	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	347	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					ACATGCCTTGTGATGAAACTC	0.557													G	38407142	T	G	38407142	3	3	146	1	0	0	0	0	1	0	0	0	4966	1702	59	5	1085	5	EGFLAM	5	38407142	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	2451239	38407142	142508118	117	80672											
C6	729	broad.mit.edu	37	chr5	41161823	41161823	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatcacagcaggattttccTtcactgattctaaccactca	4	13	4	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:41161823T>C	uc003jmk.2	-	10	1640	c.1430A>G	c.(1429-1431)AAG>AGG	p.K477R	C6_uc003jml.1_Missense_Mutation_p.K477R	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	477	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGGATTTTCCTTCACTGATTC	0.428													C	41161823	T	C	41161823	3	2	146	1	0	0	0	0	1	0	0	0	2315	1609	56	3	1410	3	C6	5	41161823	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	2754681	41161823	139753437	118	80673											
ANKRD55	79722	broad.mit.edu	37	chr5	55471985	55471985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacaagtcagtaccaggtaGgtggccaggcataaacttgt	12	9	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:55471985G>A	uc003jqu.2	-	4	458	c.306C>T	c.(304-306)ACC>ACT	p.T102T		NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	101	ANK 3.									skin(1)	1		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GTACCAGGTAGGTGGCCAGGC	0.517													A	55471985	G	A	55471985	2	1	146	1	0	0	0	0	0	0	0	1	681	987	35	4		4	ANKRD55	5	55471985	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	14310162	55471985	125443275	119	80674											
DIMT1L	27292	broad.mit.edu	37	chr5	61690434	61690434	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaacataagtatagcacaCctgaaaagaaagcagaaagg	9	6	0	4			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:61690434C>T	uc003jta.2	-	7	576	c.447G>A	c.(445-447)AGG>AGA	p.R149R	DIMT1L_uc011cqq.1_Silent_p.R149R	NM_014473	NP_055288	Q9UNQ2	DIMT1_HUMAN	dimethyladenosine transferase	149						nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			central_nervous_system(1)	1		Lung NSC(810;8.94e-06)|Prostate(74;0.0235)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.122)		GTATAGCACACCTGAAAAGAA	0.358													T	61690434	C	T	61690434	2	4	146	1	0	0	0	0	0	0	0	1	4523	521	18	4		4	DIMT1L	5	61690434	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	6218449	61690434	119224826	120	80675											
SPZ1	84654	broad.mit.edu	37	chr5	79616240	79616260	+	RNA	DEL	TTAACAATCTCTTAAAAGAAA	TTAACAATCTCTTAAAAGAAA	-													acaacagactgcacagaagtTtaacaatctcttaaaagaaa							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:79616239_79616259TTTAACAATCTCTTAAAAGAAA>T	uc011ctk.1	-	1		c.1256_1276TTTCTTTTAAGAGATTGTTAAA>A			SPZ1_uc003kgn.3_In_Frame_Del_p.FNNLLKE69del			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TGCACAGAAGTTTAACAATCTCTTAAAAGAAATTAAAGATA	0.38													-	79616260	TTAACAATCTCTTAAAAGAAA	-	79616240	6	5	146	0	1	1	0	1	0	0	0	0	15126	1841	64	0		0	SPZ1	5	79616240	RNA	DEL	TTAACAATCTCTTAAAAGAAA	TCGA-CD-8529-01A-11D-2340-08	17925806	79616240	101299020	121	80676											
SLCO4C1	353189	broad.mit.edu	37	chr5	101631698	101631698	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgaggatggaagttcctcCagccgtaagacccctcctca	9	13	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:101631698C>T	uc003knm.2	-	1	556	c.269G>A	c.(268-270)TGG>TAG	p.W90*		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	90	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GAAGTTCCTCCAGCCGTAAGA	0.572													T	101631698	C	T	101631698	4	4	146	1	0	0	0	0	0	1	0	0	14730	595	21	4	1957	4	SLCO4C1	5	101631698	Nonsense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	22015458	101631698	79283562	122	80677											
SEC24A	10802	broad.mit.edu	37	chr5	134010858	134010858	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgtcaacacctttgaagcctCcagttccaaatttgcatgaa	6	12	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:134010858C>G	uc003kzs.2	+	6	1390	c.1102C>G	c.(1102-1104)CCA>GCA	p.P368A	SEC24A_uc011cxu.1_Missense_Mutation_p.P132A	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	368					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTGAAGCCTCCAGTTCCAAA	0.408													G	134010858	C	G	134010858	3	3	146	1	0	0	0	0	1	0	0	0	13994	855	30	5	1124	5	SEC24A	5	134010858	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	32379160	134010858	46904402	123	80678											
GFRA3	2676	broad.mit.edu	37	chr5	137600131	137600131	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttatgctagaggtgcaGgaatccaggtggtggtaggc	17	6	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:137600131G>T	uc003lcn.2	-	2	338	c.198C>A	c.(196-198)TCC>TCA	p.S66S	GFRA3_uc003lco.2_Silent_p.S66S	NM_001496	NP_001487	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3 preproprotein	66					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TAGAGGTGCAGGAATCCAGGT	0.597													T	137600131	G	T	137600131	2	4	146	1	0	0	0	0	0	0	0	1	6349	987	35	5		5	GFRA3	5	137600131	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	3589273	137600131	43315129	124	80679											
HBEGF	1839	broad.mit.edu	37	chr5	139715520	139715520	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acagcaccacagccaccacgGccaggatggttgtgtggtca	12	13	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:139715520G>C	uc003lfi.2	-	4	766	c.491C>G	c.(490-492)GCC>GGC	p.A164G	HBEGF_uc010jfj.2_RNA	NM_001945	NP_001936	Q99075	HBEGF_HUMAN	heparin-binding EGF-like growth factor	164	Helical; (Potential).				epidermal growth factor receptor signaling pathway|muscle organ development|positive regulation of protein kinase B signaling cascade|positive regulation of wound healing	cell surface|extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|eukaryotic cell surface binding|growth factor activity|heparin binding|receptor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCACCACGGCCAGGATGGT	0.547													C	139715520	G	C	139715520	3	2	146	1	0	0	0	0	1	0	0	0	6981	1203	42	5	143	5	HBEGF	5	139715520	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	2115389	139715520	41199740	125	80680											
IK	3550	broad.mit.edu	37	chr5	140038627	140038627	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgtgatcgggaaagagacAgagaccgtgaccgagagcga	16	8	0	5			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:140038627A>G	uc003lgq.2	+	12	1164	c.1054A>G	c.(1054-1056)AGA>GGA	p.R352G		NM_006083	NP_006074	Q13123	RED_HUMAN	RED protein	352	17 X 2 AA tandem repeats of R-[ED].|6.				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ggaaagagacagagaccgtga	0.139													G	140038627	A	G	140038627	3	3	146	1	0	0	0	0	1	0	0	0	7608	180	7	3	1100	3	IK	5	140038627	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	323107	140038627	40876633	126	80681											
PCDHA2	56146	broad.mit.edu	37	chr5	140176641	140176641	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctacgctggtggatgtcaacGtgtacctgatcatcgccatc	10	12	2	1	rs151049201		TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:140176641G>C	uc003lhd.2	+	1	2198	c.2092G>C	c.(2092-2094)GTG>CTG	p.V698L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.V698L|PCDHA2_uc011czy.1_Missense_Mutation_p.V698L	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	698	Helical; (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGTCAACGTGTACCTGAT	0.657													C	140176641	G	C	140176641	3	2	146	1	0	0	0	0	1	0	0	0	11524	1145	40	5	2094	5	PCDHA2	5	140176641	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	138014	140176641	40738619	127	80682											
PCDHA4	56144	broad.mit.edu	37	chr5	140187452	140187452	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagttgactggcaccgttcAgttactcatcacagtactgg	10	11	3	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:140187452A>C	uc003lhi.2	+	1	781	c.680A>C	c.(679-681)CAG>CCG	p.Q227P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.Q227P|PCDHA4_uc011daa.1_Missense_Mutation_p.Q227P	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	227	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCACCGTTCAGTTACTCATC	0.423													C	140187452	A	C	140187452	3	2	146	1	0	0	0	0	1	0	0	0	11526	188	7	5	682	5	PCDHA4	5	140187452	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	10811	140187452	40727808	128	80683											
PCDHA5	56143	broad.mit.edu	37	chr5	140202534	140202534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctccctaatgccccacGttcccttcaagctggtgtcc	7	18	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:140202534G>A	uc003lhl.2	+	1	1174	c.1174G>A	c.(1174-1176)GTT>ATT	p.V392I	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.V392I|PCDHA5_uc003lhj.1_Missense_Mutation_p.V392I	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	392	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGCCCCACGTTCCCTTCAA	0.587													A	140202534	G	A	140202534	3	1	146	1	0	0	0	0	1	0	0	0	11527	1145	40	1	1176	1	PCDHA5	5	140202534	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	15082	140202534	40712726	129	80684											
PCDHA12	56137	broad.mit.edu	37	chr5	140255711	140255711	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgatggtaatcgatggcggTaaaccagaactaacagggtc	12	8	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:140255711T>A	uc003lic.2	+	1	781	c.654T>A	c.(652-654)GGT>GGA	p.G218G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.G218G	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	218	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGATGGCGGTAAACCAGAAC	0.403													A	140255711	T	A	140255711	2	1	146	1	0	0	0	0	0	0	0	1	11522	1625	57	5		5	PCDHA12	5	140255711	Silent	SNP	T	TCGA-CD-8529-01A-11D-2340-08	53177	140255711	40659549	130	80685											
PCDHB16	57717	broad.mit.edu	37	chr5	140564258	140564258	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttttcggtgctcctgttCgtggcggtgcggctgtgcag	15	11	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:140564258C>T	uc003liv.2	+	1	3279	c.2124C>T	c.(2122-2124)TTC>TTT	p.F708F	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	708	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGTTCGTGGCGGTGC	0.687													T	140564258	C	T	140564258	2	4	146	1	0	0	0	0	0	0	0	1	11541	883	31	1		1	PCDHB16	5	140564258	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	308547	140564258	40351002	131	80686											
PCDHB14	56122	broad.mit.edu	37	chr5	140603844	140603844	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaagtccccgaggacagacCccttggctcctggattgcca	11	15	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:140603844C>A	uc003ljb.2	+	1	767	c.767C>A	c.(766-768)CCC>CAC	p.P256H	PCDHB14_uc011dal.1_Missense_Mutation_p.P103H	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	256	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGACAGACCCCTTGGCTCC	0.458													A	140603844	C	A	140603844	3	1	146	1	0	0	0	0	1	0	0	0	11539	623	22	5	769	5	PCDHB14	5	140603844	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	39586	140603844	40311416	132	80687											
PCDHB15	56121	broad.mit.edu	37	chr5	140627303	140627303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcaggaggagcagggcGgcctcagtgggtcgctgctc	18	11	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:140627303G>A	uc003lje.2	+	1	2157	c.2157G>A	c.(2155-2157)GCG>GCA	p.A719A		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	719	Cytoplasmic (Potential).		A -> V (in a breast cancer sample; somatic mutation).		homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A719V(1)		ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCAGGGCGGCCTCAGTGG	0.647													A	140627303	G	A	140627303	2	1	146	1	0	0	0	0	0	0	0	1	11540	1103	39	1		1	PCDHB15	5	140627303	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	23459	140627303	40287957	133	80688											
PCDHGA7	56108	broad.mit.edu	37	chr5	140763604	140763604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagagattctggaaagaatGgtgaggtgacctgcaccatt	12	7	1	4			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:140763604G>A	uc003lka.1	+	1	1138	c.1138G>A	c.(1138-1140)GGT>AGT	p.G380S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.G380S	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	380	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)			TGGAAAGAATGGTGAGGTGAC	0.393													A	140763604	G	A	140763604	3	1	146	1	0	0	0	0	1	0	0	0	11559	1348	47	4	1140	4	PCDHGA7	5	140763604	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	136301	140763604	40151656	134	80689											
PCDHGA12	26025	broad.mit.edu	37	chr5	140810919	140810919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgaattggtgctgaaacGcgccctggaccgcgaagaaa	12	13	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:140810919G>A	uc003lkt.1	+	1	762	c.593G>A	c.(592-594)CGC>CAC	p.R198H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.R198H	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	198	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGAAACGCGCCCTGGAC	0.622													A	140810919	G	A	140810919	3	1	146	1	0	0	0	0	1	0	0	0	11553	1087	38	1	595	1	PCDHGA12	5	140810919	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	47315	140810919	40104341	135	80690											
PCDHGC4	56098	broad.mit.edu	37	chr5	140864787	140864787	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaatctggcggtgggctaCccttttgttcctcttttacc	9	11	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:140864787C>A	uc003lky.1	+	1	47	c.47C>A	c.(46-48)ACC>AAC	p.T16N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.T16N	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	16					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGGGCTACCCTTTTGTTC	0.562													A	140864787	C	A	140864787	3	1	146	1	0	0	0	0	1	0	0	0	11570	507	18	5	49	5	PCDHGC4	5	140864787	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	53868	140864787	40050473	136	80691											
ABLIM3	22885	broad.mit.edu	37	chr5	148630060	148630060	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctaccgaagaaatgggCtgcacagggtaagaagctgt	13	9	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:148630060C>T	uc003lpy.2	+	20	2031	c.1780C>T	c.(1780-1782)CTG>TTG	p.L594L	ABLIM3_uc003lpz.1_Silent_p.L594L|ABLIM3_uc003lqa.1_Silent_p.L491L|ABLIM3_uc003lqb.2_Silent_p.L483L|ABLIM3_uc003lqc.1_Silent_p.L561L|ABLIM3_uc003lqd.1_Silent_p.L499L|ABLIM3_uc003lqf.2_Silent_p.L483L|ABLIM3_uc003lqe.1_Silent_p.L483L	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	594					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAAATGGGCTGCACAGGGT	0.488													T	148630060	C	T	148630060	2	4	146	1	0	0	0	0	0	0	0	1	96	796	28	2		2	ABLIM3	5	148630060	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	7765273	148630060	32285200	137	80692											
NMUR2	56923	broad.mit.edu	37	chr5	151771908	151771908	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagtggcattctgtcaggaaGatgttccgctgggcaggtgg	16	7	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:151771908G>C	uc003luv.2	-	4	1258	c.1092C>G	c.(1090-1092)ATC>ATG	p.I364M		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	364	Cytoplasmic (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CTGTCAGGAAGATGTTCCGCT	0.542													C	151771908	G	C	151771908	3	2	146	1	0	0	0	0	1	0	0	0	10507	932	33	5	159	5	NMUR2	5	151771908	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	3141848	151771908	29143352	138	80693											
FAM114A2	10827	broad.mit.edu	37	chr5	153406876	153406876	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggtccgtatctcttctttctCcttcgcctctcgtaaaacct	5	15	4	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:153406876C>A	uc003lvb.2	-	7	1237	c.649G>T	c.(649-651)GAG>TAG	p.E217*	FAM114A2_uc003lvc.2_Nonsense_Mutation_p.E217*|FAM114A2_uc003lvd.2_Nonsense_Mutation_p.E217*|FAM114A2_uc003lve.2_Nonsense_Mutation_p.E33*|FAM114A2_uc011dda.1_Nonsense_Mutation_p.E147*	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	hypothetical protein LOC10827	217							purine nucleotide binding				0						TCTTCTTTCTCCTTCGCCTCT	0.423													A	153406876	C	A	153406876	4	1	146	1	0	0	0	0	0	1	0	0	5404	864	30	5	900	5	FAM114A2	5	153406876	Nonsense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	1634968	153406876	27508384	139	80694											
GALNT10	55568	broad.mit.edu	37	chr5	153760070	153760070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgatgtaattgaccatgacGactttcggtacgagacacag	10	8	0	4			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:153760070G>A	uc003lvh.2	+	6	949	c.817G>A	c.(817-819)GAC>AAC	p.D273N	GALNT10_uc003lvg.1_Missense_Mutation_p.D273N|GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Missense_Mutation_p.D114N	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	273	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TGACCATGACGACTTTCGGTA	0.532													A	153760070	G	A	153760070	3	1	146	1	0	0	0	0	1	0	0	0	6208	1058	37	1	839	1	GALNT10	5	153760070	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	353194	153760070	27155190	140	80695											
DRD1	1812	broad.mit.edu	37	chr5	174868997	174868997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgatggctggaaaacatcGcggccccattgttattgata	10	9	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr5:174868997G>A	uc003mcz.2	-	2	2051	c.1106C>T	c.(1105-1107)GCG>GTG	p.A369V		NM_000794	NP_000785	P21728	DRD1_HUMAN	dopamine receptor D1	369	Cytoplasmic (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			ovary(2)|skin(1)	3	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GGAAAACATCGCGGCCCCATT	0.502													A	174868997	G	A	174868997	3	1	146	1	0	0	0	0	1	0	0	0	4756	1087	38	1	238	1	DRD1	5	174868997	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	21108927	174868997	6046263	141	80696											
MYLK4	340156	broad.mit.edu	37	chr6	2678542	2678542	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctctaagtcccacctgcAggccaggatgttgttcagcg	10	13	2	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:2678542A>C	uc003mty.3	-	10	1249	c.952T>G	c.(952-954)TGC>GGC	p.C318G	MYLK4_uc003mtx.3_Missense_Mutation_p.C33G	NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	318	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(3)|ovary(1)	4	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TCCCACCTGCAGGCCAGGATG	0.488													C	2678542	A	C	2678542	3	2	146	1	0	0	0	0	1	0	0	0	10059	188	7	5	226	5	MYLK4	6	2678542	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08		2678542	168436525	142	80697											
MAK	4117	broad.mit.edu	37	chr6	10796386	10796386	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctggggttgtccaacaacctGatcgattatatccggcagag	11	10	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:10796386G>C	uc003mzl.2	-	8	1217	c.988C>G	c.(988-990)CAG>GAG	p.Q330E	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.Q330E|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	330	Glu/Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				CCAACAACCTGATCGATTATA	0.488													C	10796386	G	C	10796386	3	2	146	1	0	0	0	0	1	0	0	0	9197	1299	45	5	907	5	MAK	6	10796386	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	8117844	10796386	160318681	143	80698											
ZNF165	7718	broad.mit.edu	37	chr6	28056762	28056797	+	In_Frame_Del	DEL	ATCTTTCAAGAGCCCAAAACTTGCTAAACATGCAGC	ATCTTTCAAGAGCCCAAAACTTGCTAAACATGCAGC	-													aaaaatcaccaatatggaaaAtctttcaagagcccaaaact					rs144627947	byFrequency	TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:28056761_28056796AATCTTTCAAGAGCCCAAAACTTGCTAAACATGCAGC>A	uc021yro.1	+	3	1798_1833	c.971_1006AATCTTTCAAGAGCCCAAAACTTGCTAAACATGCAGC>A	c.(970-1008)aaatctttcaagagcccaaaacttgctaaacatgcagca>aAca	p.324_336KSFKSPKLAKHAA>N	ZNF165_uc003nkh.3_In_Frame_Del_p.324_336KSFKSPKLAKHAA>N|ZNF165_uc003nki.4_In_Frame_Del_p.324_336KSFKSPKLAKHAA>N|ZSCAN12P1_uc003nkj.4_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	Homo sapiens zinc finger protein 165 (ZNF165), mRNA.	324					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAATATGGAAAATCTTTCAAGAGCCCAAAACTTGCTAAACATGCAGCAGTTTTCAG	0.381													-	28056797	ATCTTTCAAGAGCCCAAAACTTGCTAAACATGCAGC	-	28056762	7	5	146	1	0	1	0	1	0	0	0	0	17737	98	4	0	982	0	ZNF165	6	28056762	In_Frame_Del	DEL	ATCTTTCAAGAGCCCAAAACTTGCTAAACATGCAGC	TCGA-CD-8529-01A-11D-2340-08	17260376	28056762	143058305	144	80699											
SCAND3	114821	broad.mit.edu	37	chr6	28547186	28547186	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacttcctgcccatatgtgCcctgtgagacctgtggacaa	9	12	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:28547186C>A	uc003nlo.2	-	2	1049	c.431G>T	c.(430-432)GGC>GTC	p.G144V		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	144					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCCATATGTGCCCTGTGAGAC	0.393													A	28547186	C	A	28547186	3	1	146	1	0	0	0	0	1	0	0	0	13876	739	26	5	3558	5	SCAND3	6	28547186	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	490424	28547186	142567881	145	80700											
ZFP57	346171	broad.mit.edu	37	chr6	29643777	29643777	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggaccctctggctggcatcTagacagtcccactcttcctg	9	15	3	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:29643777T>A	uc011dlw.1	-	2	334	c.183A>T	c.(181-183)CTA>CTT	p.L61L	ZFP57_uc003nnl.3_Silent_p.L41L	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	33	KRAB.				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)|skin(2)	5						GGCTGGCATCTAGACAGTCCC	0.473													A	29643777	T	A	29643777	2	1	146	1	0	0	0	0	0	0	0	1	17648	1509	53	5		5	ZFP57	6	29643777	Silent	SNP	T	TCGA-CD-8529-01A-11D-2340-08	1096591	29643777	141471290	146	80701											
VARS2	57176	broad.mit.edu	37	chr6	30884912	30884912	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggctgtgactgaagcttttGtgcggctctacaaggcgggg	16	8	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:30884912G>C	uc003nsc.1	+	8	1416	c.784G>C	c.(784-786)GTG>CTG	p.V262L	VARS2_uc003nsd.2_Missense_Mutation_p.V262L|VARS2_uc011dmx.1_Missense_Mutation_p.V262L|VARS2_uc011dmy.1_Missense_Mutation_p.V122L|VARS2_uc011dmz.1_Missense_Mutation_p.V292L|VARS2_uc011dna.1_Missense_Mutation_p.V262L|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'Flank|VARS2_uc010jsg.1_5'Flank	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	262					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						TGAAGCTTTTGTGCGGCTCTA	0.562													C	30884912	G	C	30884912	3	2	146	1	0	0	0	0	1	0	0	0	17121	1377	48	5	908	5	VARS2	6	30884912	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	1241135	30884912	140230155	147	80702											
NEU1	4758	broad.mit.edu	37	chr6	31827959	31827959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcacaggcatcatagctgCggaggacaattcggcagtgg	13	9	2	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:31827959C>T	uc003nxq.3	-	5	1037	c.881G>A	c.(880-882)CGC>CAC	p.R294H	NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_Intron|NEU1_uc010jth.2_Missense_Mutation_p.R125H|NEU1_uc003nxs.3_3'UTR	NM_000434	NP_000425	Q99519	NEUR1_HUMAN	neuraminidase precursor	294			R -> S (in SIALIDOSIS; type 1; mild mutation as residual activity is still measurable).			cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding	p.R294C(1)		ovary(1)	1					Oseltamivir(DB00198)|Zanamivir(DB00558)	ATCATAGCTGCGGAGGACAAT	0.577													T	31827959	C	T	31827959	3	4	146	1	0	0	0	0	1	0	0	0	10341	768	27	1	374	1	NEU1	6	31827959	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	943047	31827959	139287108	148	80703											
SLC26A8	116369	broad.mit.edu	37	chr6	35927520	35927520	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcttatgctttaggtagtAaacatttacaaatgtaattg	7	5	0	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:35927520A>C	uc003olm.2	-	15	1813	c.1702T>G	c.(1702-1704)TAC>GAC	p.Y568D	SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Missense_Mutation_p.Y150D|SLC26A8_uc003oln.2_Missense_Mutation_p.Y568D|SLC26A8_uc003oll.2_Missense_Mutation_p.Y463D	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	568	STAS.|Cytoplasmic (Potential).				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			ovary(2)	2						TTTAGGTAGTAAACATTTACA	0.463													C	35927520	A	C	35927520	3	2	146	1	0	0	0	0	1	0	0	0	14523	362	13	5	1234	5	SLC26A8	6	35927520	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	4099561	35927520	135187547	149	80704											
CPNE5	57699	broad.mit.edu	37	chr6	36746615	36746636	+	Splice_Site	DEL	TCCCCAGAAAACTCACGTTCCA	TCCCCAGAAAACTCACGTTCCA	-													gaaggtgcagtgcacaagtgTccccagaaaactcacgttcc							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:36746614_36746635GTCCCCAGAAAACTCACGTTCCA>G	uc003omr.1	-	9	699	c.632_splice	c.e9+1	p.T211_splice	CPNE5_uc003oms.1_Splice_Site_p.T190_splice	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	211	C2 2.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GTGCACAAGTGTCCCCAGAAAACTCACGTTCCATCCTCGTTG	0.541													-	36746636	TCCCCAGAAAACTCACGTTCCA	-	36746615	8	5	146	1	0	1	0	1	0	0	1	0	3815	1682	58	0		0	CPNE5	6	36746615	Splice_Site	DEL	TCCCCAGAAAACTCACGTTCCA	TCGA-CD-8529-01A-11D-2340-08	819095	36746615	134368452	150	80705											
DNAH8	1769	broad.mit.edu	37	chr6	38905858	38905858	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaaactgagatcaagaTcaacgcggctcaggaggagt	13	8	3	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:38905858T>C	uc003ooe.1	+	76	11621	c.11021T>C	c.(11020-11022)ATC>ACC	p.I3674T	DNAH8_uc003oog.1_Missense_Mutation_p.I123T|uc003oof.1_Intron	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GAGATCAAGATCAACGCGGCT	0.512													C	38905858	T	C	38905858	3	2	146	1	0	0	0	0	1	0	0	0	4607	1435	50	3	11315	3	DNAH8	6	38905858	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	2159243	38905858	132209209	151	80706											
TREM2	54209	broad.mit.edu	37	chr6	41126729	41126729	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agggcgctggctgctagaatCttgatgagaaagatgcaggc	15	7	1	4	rs28937876		TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:41126729C>T	uc003opy.2	-	4	660	c.558G>A	c.(556-558)AAG>AAA	p.K186K	TREM2_uc003opz.2_Missense_Mutation_p.D230N|TREM2_uc010jxl.1_Intron	NM_018965	NP_061838	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	186	Helical; (Potential).		K -> N (in PLOSL).		axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			ovary(1)	1	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTGCTAGAATCTTGATGAGAA	0.572													T	41126729	C	T	41126729	2	4	146	1	0	0	0	0	0	0	0	1	16468	912	32	4		4	TREM2	6	41126729	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	2220871	41126729	129988338	152	80707											
PRPH2	5961	broad.mit.edu	37	chr6	42689828	42689828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtccagggcgtcgtagCagatcttcccagccagcgag	14	13	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:42689828C>T	uc003osk.2	-	1	531	c.245G>A	c.(244-246)TGC>TAC	p.C82Y		NM_000322	NP_000313	P23942	PRPH2_HUMAN	peripherin 2	82	Cytoplasmic (Potential).				cell adhesion|visual perception	integral to membrane				ovary(4)|central_nervous_system(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GGCGTCGTAGCAGATCTTCCC	0.517													T	42689828	C	T	42689828	3	4	146	1	0	0	0	0	1	0	0	0	12577	710	25	2	807	2	PRPH2	6	42689828	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	1563099	42689828	128425239	153	80708											
KIAA0240	23506	broad.mit.edu	37	chr6	42797574	42797574	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtggacagatgcccttGcagcaggcatccccaactgt	13	12	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:42797574G>C	uc003osn.1	+	6	1654	c.1503G>C	c.(1501-1503)TTG>TTC	p.L501F	KIAA0240_uc003osm.1_Missense_Mutation_p.L501F|KIAA0240_uc011duw.1_Missense_Mutation_p.L501F|KIAA0240_uc003oso.1_Missense_Mutation_p.L501F|KIAA0240_uc003osp.1_Missense_Mutation_p.L501F	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	501										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			AGATGCCCTTGCAGCAGGCAT	0.557													C	42797574	G	C	42797574	3	2	146	1	0	0	0	0	1	0	0	0	8164	1310	46	5	1517	5	KIAA0240	6	42797574	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	107746	42797574	128317493	154	80709											
CUL9	23113	broad.mit.edu	37	chr6	43173834	43173834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctctgttttcccaaccGcctcccacagctgatgctgc	8	17	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:43173834G>A	uc003ouk.2	+	25	4958	c.4883G>A	c.(4882-4884)CGC>CAC	p.R1628H	CUL9_uc003oul.2_Missense_Mutation_p.R1628H|CUL9_uc010jyk.2_Missense_Mutation_p.R780H	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1628					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						TTTCCCAACCGCCTCCCACAG	0.582													A	43173834	G	A	43173834	3	1	146	1	0	0	0	0	1	0	0	0	4061	1087	38	1	4977	1	CUL9	6	43173834	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	376260	43173834	127941233	155	80710											
TTBK1	84630	broad.mit.edu	37	chr6	43223579	43223579	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccagcctcgactacttcacCaagcccgactaccaggtggg	10	16	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:43223579C>G	uc003ouq.1	+	9	1125	c.846C>G	c.(844-846)ACC>ACG	p.T282T		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	282	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ACTACTTCACCAAGCCCGACT	0.602													G	43223579	C	G	43223579	2	3	146	1	0	0	0	0	0	0	0	1	16673	581	21	5		5	TTBK1	6	43223579	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	49745	43223579	127891488	156	80711											
HMGCLL1	54511	broad.mit.edu	37	chr6	55364066	55364066	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgcggtgtaatacttccttCatatggacagcccagagcac	9	11	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:55364066C>T	uc003pcn.2	-	7	823	c.664G>A	c.(664-666)GAA>AAA	p.E222K	HMGCLL1_uc003pco.2_Missense_Mutation_p.E192K|HMGCLL1_uc010jzx.2_Missense_Mutation_p.E93K|HMGCLL1_uc011dxc.1_Missense_Mutation_p.E160K|HMGCLL1_uc011dxd.1_Intron|HMGCLL1_uc011dxe.1_Intron	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	222							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATACTTCCTTCATATGGACAG	0.308													T	55364066	C	T	55364066	3	4	146	1	0	0	0	0	1	0	0	0	7230	835	29	4	464	4	HMGCLL1	6	55364066	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	12140487	55364066	115751001	157	80712											
C6orf57	135154	broad.mit.edu	37	chr6	71298420	71298420	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgaaaaggacgctgtattgAtttttaagtcgcatattctt	8	6	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:71298420A>G	uc003pfq.1	+	3	340	c.320A>G	c.(319-321)GAT>GGT	p.D107G		NM_145267	NP_660310	Q5VUM1	CF057_HUMAN	hypothetical protein LOC135154 precursor	107						extracellular region					0						CGCTGTATTGATTTTTAAGTC	0.348													G	71298420	A	G	71298420	3	3	146	1	0	0	0	0	1	0	0	0	2366	333	12	3	330	3	C6orf57	6	71298420	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	15934354	71298420	99816647	158	80713											
COL12A1	1303	broad.mit.edu	37	chr6	75804879	75804911	+	Splice_Site	DEL	GGGGAGCCTGGGCTTCCCTACAACACATGGAAA	GGGGAGCCTGGGCTTCCCTACAACACATGGAAA	-													cacttggtcctgtgactcctGgggagcctgggcttccctac					rs148065232	by1000genomes	TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:75804878_75804910TGGGGAGCCTGGGCTTCCCTACAACACATGGAAA>T	uc021zbv.1	-	59	8613	c.8578_splice	c.e59-1	p.G2860_splice	COL12A1_uc021zbw.1_Splice_Site_p.G1696_splice|COL12A1_uc003phs.3_Splice_Site_p.G2860_splice|COL12A1_uc003pht.3_Splice_Site_p.G1696_splice	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2860	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTGTGACTCCTGGGGAGCCTGGGCTTCCCTACAACACATGGAAAGGGAAGGGG	0.464													-	75804911	GGGGAGCCTGGGCTTCCCTACAACACATGGAAA	-	75804879	8	5	146	1	0	1	0	1	0	0	1	0	3669	1348	47	0	625	0	COL12A1	6	75804879	Splice_Site	DEL	GGGGAGCCTGGGCTTCCCTACAACACATGGAAA	TCGA-CD-8529-01A-11D-2340-08	4506459	75804879	95310188	159	80714											
SH3BGRL2	83699	broad.mit.edu	37	chr6	80383441	80383441	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcaatggatgtacaaaaaCgtccccccggaaaagaaacc	9	11	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:80383441C>A	uc003piz.1	+	2	335	c.156C>A	c.(154-156)AAC>AAA	p.N52K		NM_031469	NP_113657	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamic acid-rich protein	52						nucleus	SH3 domain binding				0		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		TGTACAAAAACGTCCCCCCGG	0.473													A	80383441	C	A	80383441	3	1	146	1	0	0	0	0	1	0	0	0	14242	535	19	5	162	5	SH3BGRL2	6	80383441	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	4578562	80383441	90731626	160	80715											
ELOVL4	6785	broad.mit.edu	37	chr6	80629160	80629160	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcaacatagtcaggtatcGtttccaccaaagatatttct	6	9	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:80629160G>A	uc003pja.3	-	5	965	c.646C>T	c.(646-648)CGA>TGA	p.R216*	ELOVL4_uc011dyt.1_Intron	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	elongation of very long chain fatty acids-like	216					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			ovary(1)|skin(1)	2		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	GTCAGGTATCGTTTCCACCAA	0.343													A	80629160	G	A	80629160	4	1	146	1	0	0	0	0	0	1	0	0	5076	1153	40	1	306	1	ELOVL4	6	80629160	Nonsense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	245719	80629160	90485907	161	80716											
DOPEY1	23033	broad.mit.edu	37	chr6	83863234	83863234	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttatgttttcataggtttTggctcatcttttggatatgg	9	4	3	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:83863234T>G	uc003pjs.1	+	31	6394	c.6134T>G	c.(6133-6135)TTG>TGG	p.L2045W	DOPEY1_uc011dyy.1_Missense_Mutation_p.L2036W|DOPEY1_uc010kbl.1_Missense_Mutation_p.L2036W|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	2045					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCATAGGTTTTGGCTCATCTT	0.338													G	83863234	T	G	83863234	3	3	146	1	0	0	0	0	1	0	0	0	4707	1821	63	5	6248	5	DOPEY1	6	83863234	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	3234074	83863234	87251833	162	80717											
SLC22A16	85413	broad.mit.edu	37	chr6	110746263	110746263	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagtgttaacactccactcAggagggccatagtcccaaca	8	12	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:110746263A>C	uc003puf.2	-	8	1614	c.1547T>G	c.(1546-1548)CTG>CGG	p.L516R	SLC22A16_uc003pue.2_Missense_Mutation_p.L497R	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	516	Helical; (Potential).				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CACTCCACTCAGGAGGGCCAT	0.428													C	110746263	A	C	110746263	3	2	146	1	0	0	0	0	1	0	0	0	14447	188	7	5	190	5	SLC22A16	6	110746263	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	26883029	110746263	60368804	163	80718											
RFPL4B	442247	broad.mit.edu	37	chr6	112670980	112670980	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttttctcctgttccatttctCtctcttgtacacacgtgttc	4	13	3	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:112670980C>G	uc003pvx.1	+	3	382	c.70C>G	c.(70-72)CTC>GTC	p.L24V		NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	24	RING-type.						zinc ion binding				0		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		TTCCATTTCTCTCTCTTGTAC	0.463													G	112670980	C	G	112670980	3	3	146	1	0	0	0	0	1	0	0	0	13256	913	32	5	72	5	RFPL4B	6	112670980	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	1924717	112670980	58444087	164	80719											
DCBLD1	285761	broad.mit.edu	37	chr6	117861962	117861962	+	Frame_Shift_Del	DEL	T	T	-													ttgaaggtggagctcattggTtgccagattacacaaggtag							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:117861961_117861961GT>G	uc003pxs.3	+	9	1357	c.1232_1232GT>G	c.(1231-1233)ggtfs	p.G411fs	ROS1_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Frame_Shift_Del_p.G411fs|DCBLD1_uc003pxt.1_Frame_Shift_Del_p.G66fs	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	Homo sapiens discoidin, CUB and LCCL domain containing 1 (DCBLD1), mRNA.	411	F5/8 type C.				cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		GAGCTCATTGGTTGCCAGATT	0.488													-	117861962	T	-	117861962	7	5	146	1	0	1	0	1	0	0	0	0	4280	1712	60	0	1271	0	DCBLD1	6	117861962	Frame_Shift_Del	DEL	T	TCGA-CD-8529-01A-11D-2340-08	5190982	117861962	53253105	165	80720											
MED23	9439	broad.mit.edu	37	chr6	131929185	131929185	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acccacataagatgatctctGcctttaatcagtcctcgccc	5	15	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:131929185G>C	uc003qcs.1	-	12	1278	c.1104C>G	c.(1102-1104)GGC>GGG	p.G368G	MED23_uc003qcq.2_Silent_p.G374G|MED23_uc011eca.1_Intron|MED23_uc003qct.1_Silent_p.G374G|MED23_uc011ecb.1_RNA	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	368					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GATGATCTCTGCCTTTAATCA	0.358													C	131929185	G	C	131929185	2	2	146	1	0	0	0	0	0	0	0	1	9441	1306	46	5		5	MED23	6	131929185	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	14067223	131929185	39185882	166	80721											
IFNGR1	3459	broad.mit.edu	37	chr6	137524711	137524711	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aacaccccacacatgtaagaCtccttctgctgaaacacagt	5	14	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:137524711C>G	uc003qho.2	-	5	761	c.658G>C	c.(658-660)GTC>CTC	p.V220L	IFNGR1_uc011edm.1_Missense_Mutation_p.V192L|IFNGR1_uc011edn.1_3'UTR	NM_000416	NP_000407	P15260	INGR1_HUMAN	interferon gamma receptor 1 precursor	220	Extracellular (Potential).				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			upper_aerodigestive_tract(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	ACATGTAAGACTCCTTCTGCT	0.378													G	137524711	C	G	137524711	3	3	146	1	0	0	0	0	1	0	0	0	7549	565	20	5	823	5	IFNGR1	6	137524711	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	5595526	137524711	33590356	167	80722											
GRM1	2911	broad.mit.edu	37	chr6	146351337	146351337	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaattggacctatgtctcTgcagtccacacggaaggtag	10	10	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:146351337T>C	uc010khw.1	+	2	1154	c.684T>C	c.(682-684)TCT>TCC	p.S228S	GRM1_uc010khu.1_Silent_p.S228S|GRM1_uc010khv.1_Silent_p.S228S|GRM1_uc003qll.2_Silent_p.S228S|GRM1_uc011edz.1_Silent_p.S228S|GRM1_uc011eea.1_Silent_p.S228S	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	228	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCTATGTCTCTGCAGTCCACA	0.453													C	146351337	T	C	146351337	2	2	146	1	0	0	0	0	0	0	0	1	6796	1567	55	3		3	GRM1	6	146351337	Silent	SNP	T	TCGA-CD-8529-01A-11D-2340-08	8826626	146351337	24763730	168	80723											
SNX9	51429	broad.mit.edu	37	chr6	158330999	158330999	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactggttatatgagcgtctCctggttaagtttgggtcagc	13	7	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:158330999C>T	uc003qqv.1	+	9	1064	c.891C>T	c.(889-891)CTC>CTT	p.L297L		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	297	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		ATGAGCGTCTCCTGGTTAAGT	0.413													T	158330999	C	T	158330999	2	4	146	1	0	0	0	0	0	0	0	1	14909	842	30	4		4	SNX9	6	158330999	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	11979662	158330999	12784068	169	80724											
C6orf118	168090	broad.mit.edu	37	chr6	165715612	165715612	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggaggctggtagagcttgtTggggttcaggtgtccagaga	18	6	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr6:165715612T>C	uc003qum.3	-	2	235	c.199A>G	c.(199-201)AAC>GAC	p.N67D	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	67											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TAGAGCTTGTTGGGGTTCAGG	0.592													C	165715612	T	C	165715612	3	2	146	1	0	0	0	0	1	0	0	0	2323	1812	63	3	1242	3	C6orf118	6	165715612	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	7384613	165715612	5399455	170	80725											
GPR146	115330	broad.mit.edu	37	chr7	1097511	1097511	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggtggccatgtactccacCgccctgctgagcctcgacca	10	17	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr7:1097511C>A	uc003sjw.2	+	2	436	c.360C>A	c.(358-360)ACC>ACA	p.T120T	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjx.3_Silent_p.T120T|GPR146_uc003sjy.1_Silent_p.T120T	NM_138445	NP_612454	Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	120	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TGTACTCCACCGCCCTGCTGA	0.657													A	1097511	C	A	1097511	2	1	146	1	0	0	0	0	0	0	0	1	6652	639	23	5		5	GPR146	7	1097511	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08		1097511	158041152	171	80726											
NXPH1	30010	broad.mit.edu	37	chr7	8790784	8790784	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagacttttcgtggcaaagaGaatgatacagatttggacct	10	7	0	4			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr7:8790784G>C	uc003srv.2	+	3	1112	c.201G>C	c.(199-201)GAG>GAC	p.E67D	NXPH1_uc011jxh.1_5'UTR	NM_152745	NP_689958	P58417	NXPH1_HUMAN	neurexophilin 1 precursor	67	II.					extracellular region				ovary(1)|central_nervous_system(1)	2		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GTGGCAAAGAGAATGATACAG	0.473													C	8790784	G	C	8790784	3	2	146	1	0	0	0	0	1	0	0	0	10790	933	33	5	207	5	NXPH1	7	8790784	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	7693273	8790784	150347879	172	80727											
SCIN	85477	broad.mit.edu	37	chr7	12680057	12680057	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tatttacaagaatggaacatCaaagaaaggaggtcaggcac	10	6	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr7:12680057C>G	uc003ssn.3	+	11	1706	c.1496C>G	c.(1495-1497)TCA>TGA	p.S499*	SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Nonsense_Mutation_p.S252*	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN	scinderin isoform 1	499	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		AATGGAACATCAAAGAAAGGA	0.483													G	12680057	C	G	12680057	4	3	146	1	0	0	0	0	0	1	0	0	13905	838	29	5	1538	5	SCIN	7	12680057	Nonsense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	3889273	12680057	146458606	173	80728											
TAX1BP1	8887	broad.mit.edu	37	chr7	27825103	27825103	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggatgaaaaggaacttTataaggtaatttatttttta	8	1	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr7:27825103T>C	uc003szl.2	+	7	1005	c.847T>C	c.(847-849)TAT>CAT	p.Y283H	TAX1BP1_uc011jzo.1_Missense_Mutation_p.Y283H|TAX1BP1_uc003szk.2_Missense_Mutation_p.Y283H|TAX1BP1_uc011jzp.1_Missense_Mutation_p.Y126H	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	283	Potential.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)	1			GBM - Glioblastoma multiforme(3;0.0823)			AAAGGAACTTTATAAGGTAAT	0.204													C	27825103	T	C	27825103	3	2	146	1	0	0	0	0	1	0	0	0	15591	1754	61	3	869	3	TAX1BP1	7	27825103	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	15145046	27825103	131313560	174	80729											
NOD1	10392	broad.mit.edu	37	chr7	30490931	30490931	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggccagccgcttggggaagTgatgcaggacgaaggagagg	20	7	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr7:30490931T>C	uc003tav.2	-	6	2625	c.2102A>G	c.(2101-2103)CAC>CGC	p.H701R		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	701					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2						CTTGGGGAAGTGATGCAGGAC	0.637													C	30490931	T	C	30490931	3	2	146	1	0	0	0	0	1	0	0	0	10516	1696	59	3	795	3	NOD1	7	30490931	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	2665828	30490931	128647732	175	80730											
AMPH	273	broad.mit.edu	37	chr7	38534085	38534085	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accagtcaggctcatagactTcatgcagcgactctgtgagc	10	12	4	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr7:38534085T>A	uc003tgu.2	-	4	317	c.248A>T	c.(247-249)GAA>GTA	p.E83V	AMPH_uc003tgv.2_Missense_Mutation_p.E83V	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	83	BAR.|Potential.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						CTCATAGACTTCATGCAGCGA	0.527													A	38534085	T	A	38534085	3	1	146	1	0	0	0	0	1	0	0	0	588	1783	62	5	1911	5	AMPH	7	38534085	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	8043154	38534085	120604578	176	80731											
AUTS2	26053	broad.mit.edu	37	chr7	69364275	69364275	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctcttcttttctacagaaaGatgtagcacttaagcctcag	6	10	4	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr7:69364275G>T	uc003tvw.3	+	2	1056	c.313G>T	c.(313-315)GAT>TAT	p.D105Y	AUTS2_uc003tvv.3_Missense_Mutation_p.D105Y|AUTS2_uc003tvx.3_Missense_Mutation_p.D105Y	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	105										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TCTACAGAAAGATGTAGCACT	0.433													T	69364275	G	T	69364275	3	4	146	1	0	0	0	0	1	0	0	0	1225	942	33	5	319	5	AUTS2	7	69364275	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	30830190	69364275	89774388	177	80732											
HGF	3082	broad.mit.edu	37	chr7	81381461	81381461	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaacactgaggaatgtcacaGacttcgtagcgtacctctgg	11	10	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr7:81381461G>T	uc003uhl.2	-	5	765	c.600C>A	c.(598-600)GTC>GTA	p.V200V	HGF_uc003uhm.2_Silent_p.V195V|HGF_uc003uhn.1_Silent_p.V200V|HGF_uc003uho.1_Silent_p.V195V|HGF_uc003uhp.2_Silent_p.V200V	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	200	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						GAATGTCACAGACTTCGTAGC	0.458													T	81381461	G	T	81381461	2	4	146	1	0	0	0	0	0	0	0	1	7085	929	33	5		5	HGF	7	81381461	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	12017186	81381461	77757202	178	80733											
CROT	54677	broad.mit.edu	37	chr7	87006686	87006686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattgcagccatccttattGgagatccaacagtacgctgg	9	10	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr7:87006686G>A	uc003uit.2	+	10	1143	c.898G>A	c.(898-900)GGA>AGA	p.G300R	CROT_uc003uiu.2_Missense_Mutation_p.G328R	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN	peroxisomal carnitine O-octanoyltransferase	300					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			ovary(2)|lung(1)	3	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	CATCCTTATTGGAGATCCAAC	0.294													A	87006686	G	A	87006686	3	1	146	1	0	0	0	0	1	0	0	0	3894	1349	47	4	1016	4	CROT	7	87006686	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	5625225	87006686	72131977	179	80734											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99123675	99123675	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcacagacatcagccctaagCaaagcacacatggcgagaga	9	12	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr7:99123675C>G	uc003uqv.2	+	6	1136	c.1012C>G	c.(1012-1014)CAA>GAA	p.Q338E	ZKSCAN5_uc010lfx.2_Missense_Mutation_p.Q338E|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.Q338E|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.Q265E|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.Q74E	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	338					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CAGCCCTAAGCAAAGCACACA	0.512													G	99123675	C	G	99123675	3	3	146	1	0	0	0	0	1	0	0	0	17687	711	25	5	1030	5	ZKSCAN5	7	99123675	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	12116989	99123675	60014988	180	80735											
SERPINE1	5054	broad.mit.edu	37	chr7	100771774	100771774	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccccatcctacgtggcccacCtggcctcagacttcggggtg	11	17	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr7:100771774C>G	uc003uxt.2	+	2	248	c.100C>G	c.(100-102)CTG>GTG	p.L34V	SERPINE1_uc011kkj.1_Intron	NM_000602	NP_000593	P05121	PAI1_HUMAN	plasminogen activator inhibitor-1 isoform 1	34					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	CGTGGCCCACCTGGCCTCAGA	0.627													G	100771774	C	G	100771774	3	3	146	1	0	0	0	0	1	0	0	0	14111	680	24	5	102	5	SERPINE1	7	100771774	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	1648099	100771774	58366889	181	80736											
PLOD3	8985	broad.mit.edu	37	chr7	100859523	100859523	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cactcgggccagcagaagctCtctgcagagaagagcaggcg	14	12	1	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr7:100859523C>T	uc003uyd.2	-	4	879	c.423G>A	c.(421-423)GAG>GAA	p.E141E	ZNHIT1_uc003uye.2_5'Flank|ZNHIT1_uc003uyf.2_5'Flank	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	141					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGCAGAAGCTCTCTGCAGAGA	0.637													T	100859523	C	T	100859523	2	4	146	1	0	0	0	0	0	0	0	1	12103	912	32	4		4	PLOD3	7	100859523	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	87749	100859523	58279140	182	80737											
LAMB1	3912	broad.mit.edu	37	chr7	107572669	107572669	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggcactcaggacatcttggtCcaagtccatggctttctgcc	10	13	3	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr7:107572669C>A	uc003vew.2	-	28	4677	c.4342G>T	c.(4342-4344)GAC>TAC	p.D1448Y	LAMB1_uc003vev.2_Missense_Mutation_p.D1472Y|LAMB1_uc003veu.2_5'Flank	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	1448	Potential.|Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACATCTTGGTCCAAGTCCATG	0.517													A	107572669	C	A	107572669	3	1	146	1	0	0	0	0	1	0	0	0	8610	855	30	5	1046	5	LAMB1	7	107572669	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	6713146	107572669	51565994	183	80738											
THAP5	168451	broad.mit.edu	37	chr7	108204790	108204790	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttaactctagaagagttaTctttgaatgtagcttagaga	8	4	2	4			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr7:108204790T>G	uc003vfm.2	-	3	1187	c.1033A>C	c.(1033-1035)ATA>CTA	p.I345L	THAP5_uc003vfl.2_Missense_Mutation_p.I303L	NM_001130475	NP_001123947	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5 isoform 1	345					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding				0						AGAAGAGTTATCTTTGAATGT	0.363													G	108204790	T	G	108204790	3	3	146	1	0	0	0	0	1	0	0	0	15844	1435	50	5	158	5	THAP5	7	108204790	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	632121	108204790	50933873	184	80739											
PAX4	5078	broad.mit.edu	37	chr7	127255565	127255565	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attcacaaagagccccccaaGctggttcatgctgctgatcc	8	14	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr7:127255565G>T	uc010lld.1	-	1	216	c.10C>A	c.(10-12)CTT>ATT	p.L4I	PAX4_uc003vmf.2_5'UTR|PAX4_uc003vmg.1_Missense_Mutation_p.L4I|PAX4_uc003vmh.2_5'UTR	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	12	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AGCCCCCCAAGCTGGTTCATG	0.632													T	127255565	G	T	127255565	3	4	146	1	0	0	0	0	1	0	0	0	11481	971	34	5	1057	5	PAX4	7	127255565	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	19050775	127255565	31883098	185	80740											
LRRC4	64101	broad.mit.edu	37	chr7	127670273	127670273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacaggtattcaaaggcccCgctagggatgactgtcagcc	13	11	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr7:127670273C>T	uc003vmk.2	-	2	558	c.421G>A	c.(421-423)GGG>AGG	p.G141R	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	141	LRR 3.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		TCAAAGGCCCCGCTAGGGATG	0.602													T	127670273	C	T	127670273	3	4	146	1	0	0	0	0	1	0	0	0	8997	652	23	1	1544	1	LRRC4	7	127670273	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	414708	127670273	31468390	186	80741											
MLL3	58508	broad.mit.edu	37	chr7	151875009	151875009	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttcttagctgtggagaaActccagatccctgtatttgc	8	10	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr7:151875009A>G	uc003wla.2	-	38	7748	c.7529T>C	c.(7528-7530)GTT>GCT	p.V2510A	MLL3_uc003wkz.2_Missense_Mutation_p.V1571A|MLL3_uc003wky.2_Missense_Mutation_p.V19A	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2510	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CTGTGGAGAAACTCCAGATCC	0.413			N		medulloblastoma								G	151875009	A	G	151875009	3	3	146	1	0	0	0	0	1	0	0	0	9622	43	2	3	7294	3	MLL3	7	151875009	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	24204736	151875009	7263654	187	80742											
MLL3	58508	broad.mit.edu	37	chr7	151945673	151945673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcattagaaatctgtttttCcaattcagtattcactgtat	4	7	4	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr7:151945673C>T	uc003wla.2	-	14	2065	c.1846G>A	c.(1846-1848)GAA>AAA	p.E616K		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	616					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ATCTGTTTTTCCAATTCAGTA	0.294			N		medulloblastoma								T	151945673	C	T	151945673	3	4	146	1	0	0	0	0	1	0	0	0	9622	864	30	4	13073	4	MLL3	7	151945673	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	70664	151945673	7192990	188	80743											
CTSB	1508	broad.mit.edu	37	chr8	11703288	11703288	+	Frame_Shift_Del	DEL	T	T	-													atcatctctccggtgacgtgTtggtacactcctgaaaaggg							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr8:11703287_11703287GT>G	uc003wuq.3	-	8	967	c.805_805AC>C	c.(805-807)cacfs	p.H269fs	CTSB_uc003wul.3_Frame_Shift_Del_p.H206fs|CTSB_uc010lsc.3_Frame_Shift_Del_p.H145fs|CTSB_uc011kxl.2_Frame_Shift_Del_p.H190fs|CTSB_uc003wum.3_Frame_Shift_Del_p.H269fs|CTSB_uc003wun.3_Frame_Shift_Del_p.H269fs|CTSB_uc003wuo.3_Frame_Shift_Del_p.H269fs|CTSB_uc003wup.3_Frame_Shift_Del_p.H269fs|CTSB_uc003wuu.3_3'UTR	NM_001908	NP_680093	P07858	CATB_HUMAN	Homo sapiens cathepsin B (CTSB), transcript variant 1, mRNA.	269					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity	p.H269Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CCGGTGACGTGTTGGTACACT	0.622													-	11703288	T	-	11703288	7	5	146	1	0	1	0	1	0	0	0	0	4030	1722	60	0	223	0	CTSB	8	11703288	Frame_Shift_Del	DEL	T	TCGA-CD-8529-01A-11D-2340-08		11703288	134660734	189	80744											
PPP2R2A	5520	broad.mit.edu	37	chr8	26227693	26227693	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ataatttcttcagaatgtttGacagaaacacaaagcgagac	7	7	2	4			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr8:26227693G>C	uc003xeu.2	+	10	1410	c.1108G>C	c.(1108-1110)GAC>CAC	p.D370H	PPP2R2A_uc003xek.2_Missense_Mutation_p.D371H|PPP2R2A_uc011laf.1_Missense_Mutation_p.D380H	NM_002717	NP_002708	P63151	2ABA_HUMAN	alpha isoform of regulatory subunit B55, protein	370	WD 6.				protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			ovary(1)|kidney(1)	2		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		CAGAATGTTTGACAGAAACAC	0.418													C	26227693	G	C	26227693	3	2	146	1	0	0	0	0	1	0	0	0	12384	1290	45	5	1187	5	PPP2R2A	8	26227693	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	14524405	26227693	120136329	190	80745											
ADRA1A	148	broad.mit.edu	37	chr8	26628134	26628134	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttagatatccgagccaaaaTactattttaaaaactgtttc	4	7	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr8:26628134T>G	uc003xfh.1	-	2	1369	c.933A>C	c.(931-933)GTA>GTC	p.V311V	ADRA1A_uc003xfc.1_Silent_p.V311V|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Silent_p.V311V|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Silent_p.V311V	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	311	Helical; Name=7; (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	p.V311I(1)		breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CGAGCCAAAATACTATTTTAA	0.398													G	26628134	T	G	26628134	2	3	146	1	0	0	0	0	0	0	0	1	334	1393	49	5		5	ADRA1A	8	26628134	Silent	SNP	T	TCGA-CD-8529-01A-11D-2340-08	400441	26628134	119735888	191	80746											
PRKDC	5591	broad.mit.edu	37	chr8	48852143	48852143	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatatccacggatagcaaTagataactccttgttgttcg	7	10	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr8:48852143T>C	uc003xqi.2	-	11	1138	c.1081A>G	c.(1081-1083)ATT>GTT	p.I361V	PRKDC_uc003xqj.2_Missense_Mutation_p.I361V|PRKDC_uc011ldh.1_Missense_Mutation_p.I361V	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	361					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CGGATAGCAATAGATAACTCC	0.343								NHEJ					C	48852143	T	C	48852143	3	2	146	1	0	0	0	0	1	0	0	0	12521	1406	49	3	11608	3	PRKDC	8	48852143	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	22224009	48852143	97511879	192	80747											
ASPH	444	broad.mit.edu	37	chr8	62479816	62479816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggccacctcttggtagGtctcgatggctccacgtagc	13	13	2	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr8:62479816G>A	uc003xuj.2	-	17	1480	c.1211C>T	c.(1210-1212)ACC>ATC	p.T404I	ASPH_uc011leg.1_Missense_Mutation_p.T375I|ASPH_uc003xuo.2_Missense_Mutation_p.T385I	NM_004318	NP_004309	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase isoform a	404	Lumenal (Potential).				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			ovary(3)	3	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTCTTGGTAGGTCTCGATGGC	0.502													A	62479816	G	A	62479816	3	1	146	1	0	0	0	0	1	0	0	0	1053	1261	44	4	1101	4	ASPH	8	62479816	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	13627673	62479816	83884206	193	80748											
ADHFE1	137872	broad.mit.edu	37	chr8	67356836	67356836	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttttcttgtaggacctaaAaaacatgggtgctaaaaatg	10	5	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr8:67356836A>G	uc003xwb.3	+	5	240	c.206A>G	c.(205-207)AAA>AGA	p.K69R	ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.K21R|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_RNA|ADHFE1_uc011les.1_5'UTR|ADHFE1_uc011leq.1_RNA|ADHFE1_uc011ler.1_RNA	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	69					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TAGGACCTAAAAAACATGGGT	0.408													G	67356836	A	G	67356836	3	3	146	1	0	0	0	0	1	0	0	0	314	14	1	3	224	3	ADHFE1	8	67356836	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	4877020	67356836	79007186	194	80749											
ADHFE1	137872	broad.mit.edu	37	chr8	67361172	67361172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccctccacatgcctgcccGagtggtcgccaacagtggct	10	17	0	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr8:67361172G>A	uc003xwb.3	+	8	735	c.701G>A	c.(700-702)CGA>CAA	p.R234Q	ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.R186Q|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_RNA|ADHFE1_uc011les.1_Missense_Mutation_p.R164Q|ADHFE1_uc011leq.1_RNA|ADHFE1_uc011ler.1_RNA	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	234					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			ATGCCTGCCCGAGTGGTCGCC	0.498													A	67361172	G	A	67361172	3	1	146	1	0	0	0	0	1	0	0	0	314	1058	37	1	731	1	ADHFE1	8	67361172	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	4336	67361172	79002850	195	80750											
PDP1	54704	broad.mit.edu	37	chr8	94934857	94934857	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgggcactgctacccattctCcagtggcacaagcaccccaa	8	17	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr8:94934857C>T	uc003yge.2	+	2	839	c.570C>T	c.(568-570)CTC>CTT	p.L190L	PDP1_uc003ygf.2_Silent_p.L215L|PDP1_uc010max.2_Silent_p.L215L|PDP1_uc011lgm.1_Silent_p.L190L|PDP1_uc011lgn.1_Silent_p.L249L	NM_018444	NP_060914	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic	190					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						TACCCATTCTCCAGTGGCACA	0.438													T	94934857	C	T	94934857	2	4	146	1	0	0	0	0	0	0	0	1	11685	842	30	4		4	PDP1	8	94934857	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	27573685	94934857	51429165	196	80751											
VPS13B	157680	broad.mit.edu	37	chr8	100026063	100026063	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttaatgagctatgtgaatcGctacatcaagaacttaaagc	7	7	1	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr8:100026063G>C	uc003yiv.2	+	2	158	c.47G>C	c.(46-48)CGC>CCC	p.R16P	VPS13B_uc003yiw.2_Missense_Mutation_p.R16P|VPS13B_uc003yit.2_Missense_Mutation_p.R16P|VPS13B_uc003yiu.1_Missense_Mutation_p.R16P|VPS13B_uc003yis.2_Missense_Mutation_p.R16P|VPS13B_uc011lgy.1_5'UTR	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	16					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATGTGAATCGCTACATCAAG	0.438													C	100026063	G	C	100026063	3	2	146	1	0	0	0	0	1	0	0	0	17187	1087	38	5	49	5	VPS13B	8	100026063	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	5091206	100026063	46337959	197	80752											
RIMS2	9699	broad.mit.edu	37	chr8	104930682	104930682	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atttcagagatataccgcgaAtacctgatagcacacatgca	7	10	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr8:104930682A>T	uc003yls.2	+	7	1625	c.1384A>T	c.(1384-1386)ATA>TTA	p.I462L	RIMS2_uc003ylp.2_Missense_Mutation_p.I684L|RIMS2_uc003ylw.2_Missense_Mutation_p.I492L|RIMS2_uc003ylq.2_Missense_Mutation_p.I492L|RIMS2_uc003ylr.2_Missense_Mutation_p.I539L|RIMS2_uc003ylt.2_Missense_Mutation_p.I85L|RIMS2_uc003ylu.1_Missense_Mutation_p.I75L|RIMS2_uc003ylv.1_Missense_Mutation_p.I75L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	762					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TATACCGCGAATACCTGATAG	0.294										HNSCC(12;0.0054)			T	104930682	A	T	104930682	3	4	146	1	0	0	0	0	1	0	0	0	13368	101	4	5	2210	5	RIMS2	8	104930682	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	4904619	104930682	41433340	198	80753											
ABRA	137735	broad.mit.edu	37	chr8	107781917	107781917	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccttggttagctcagAcaccaggttggcacattttc	9	13	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr8:107781917A>G	uc003ymm.3	-	1	556	c.502T>C	c.(502-504)TCT>CCT	p.S168P		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	168					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GTTAGCTCAGACACCAGGTTG	0.577													G	107781917	A	G	107781917	3	3	146	1	0	0	0	0	1	0	0	0	100	275	10	3	651	3	ABRA	8	107781917	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	2851235	107781917	38582105	199	80754											
PKHD1L1	93035	broad.mit.edu	37	chr8	110509186	110509186	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaagtggtttgacaatgaaGcccatggaggtttatatggg	13	4	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr8:110509186G>T	uc003yne.2	+	64	10470	c.10366G>T	c.(10366-10368)GCC>TCC	p.A3456S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3456	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGACAATGAAGCCCATGGAGG	0.378										HNSCC(38;0.096)			T	110509186	G	T	110509186	3	4	146	1	0	0	0	0	1	0	0	0	11972	971	34	5	10620	5	PKHD1L1	8	110509186	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	2727269	110509186	35854836	200	80755											
CSMD3	114788	broad.mit.edu	37	chr8	113259259	113259259	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taatacttacgtatgcattcAggctgaatcccactccacgt	6	12	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr8:113259259A>T	uc003ynu.2	-	64	10371	c.10212T>A	c.(10210-10212)CCT>CCA	p.P3404P	CSMD3_uc003yns.2_Silent_p.P2606P|CSMD3_uc003ynt.2_Silent_p.P3364P|CSMD3_uc011lhx.1_Silent_p.P3235P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3404	Extracellular (Potential).|Sushi 27.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GTATGCATTCAGGCTGAATCC	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113259259	A	T	113259259	2	4	146	1	0	0	0	0	0	0	0	1	3946	175	7	5		5	CSMD3	8	113259259	Silent	SNP	A	TCGA-CD-8529-01A-11D-2340-08	2750073	113259259	33104763	201	80756											
CSMD3	114788	broad.mit.edu	37	chr8	113871387	113871387	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttaccttatttgtattcActgctgtgatgacccagaca	6	11	2	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr8:113871387A>C	uc003ynu.2	-	11	1901	c.1742T>G	c.(1741-1743)GTG>GGG	p.V581G	CSMD3_uc003ynt.2_Missense_Mutation_p.V541G|CSMD3_uc011lhx.1_Missense_Mutation_p.V477G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	581	Extracellular (Potential).|CUB 3.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ATTTGTATTCACTGCTGTGAT	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113871387	A	C	113871387	3	2	146	1	0	0	0	0	1	0	0	0	3946	159	6	5	9625	5	CSMD3	8	113871387	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	612128	113871387	32492635	202	80757											
SLC30A8	169026	broad.mit.edu	37	chr8	118175718	118175718	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttttccatcctggtcTtggccagcaccatcactatc	5	15	4	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr8:118175718T>A	uc003yoh.2	+	6	1008	c.778T>A	c.(778-780)TTG>ATG	p.L260M	SLC30A8_uc010mcz.2_Missense_Mutation_p.L211M|SLC30A8_uc011lia.1_Missense_Mutation_p.L211M|SLC30A8_uc003yog.2_Missense_Mutation_p.L211M	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	260	Helical; (Potential).				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			ovary(2)|skin(2)	4	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CATCCTGGTCTTGGCCAGCAC	0.403													A	118175718	T	A	118175718	3	1	146	1	0	0	0	0	1	0	0	0	14561	1606	56	5	800	5	SLC30A8	8	118175718	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	4304331	118175718	28188304	203	80758											
FER1L6	654463	broad.mit.edu	37	chr8	125029939	125029939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttagataagaagcgacttaCgctctgctggcaggagctgg	13	8	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr8:125029939C>T	uc003yqw.2	+	16	2200	c.1994C>T	c.(1993-1995)ACG>ATG	p.T665M	uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	665	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGCGACTTACGCTCTGCTGG	0.378													T	125029939	C	T	125029939	3	4	146	1	0	0	0	0	1	0	0	0	5815	536	19	1	2052	1	FER1L6	8	125029939	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	6854221	125029939	21334083	204	80759											
CPSF1	29894	broad.mit.edu	37	chr8	145622563	145622563	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccaaaggagctgtccacaagGacccgctgccccacagggaa	11	15	0	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr8:145622563G>C	uc003zcj.2	-	23	2526	c.2451C>G	c.(2449-2451)GTC>GTG	p.V817V		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	817					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGTCCACAAGGACCCGCTGCC	0.667													C	145622563	G	C	145622563	2	2	146	1	0	0	0	0	0	0	0	1	3824	1161	41	5		5	CPSF1	8	145622563	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	20592624	145622563	741459	205	80760											
KANK1	23189	broad.mit.edu	37	chr9	712605	712605	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggagtctgtgaacgacctCacactcctcaagacaaactt	8	12	3	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr9:712605C>T	uc003zgl.1	+	7	2488	c.1839C>T	c.(1837-1839)CTC>CTT	p.L613L	KANK1_uc003zgm.2_Silent_p.L613L|KANK1_uc003zgn.1_Silent_p.L613L|KANK1_uc003zgo.1_Silent_p.L613L|KANK1_uc003zgp.1_Silent_p.L613L|KANK1_uc003zgq.2_Silent_p.L455L|KANK1_uc003zgr.1_Silent_p.L455L|KANK1_uc003zgs.1_Silent_p.L455L	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	613					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TGAACGACCTCACACTCCTCA	0.512													T	712605	C	T	712605	2	4	146	1	0	0	0	0	0	0	0	1	7976	813	29	4		4	KANK1	9	712605	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08		712605	140500826	206	80761											
INSL6	11172	broad.mit.edu	37	chr9	5164104	5164104	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttttaattttgtttctacGtttcttctgaaattttgcat	6	5	3	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr9:5164104G>T	uc003zix.2	-	2	467	c.451C>A	c.(451-453)CGT>AGT	p.R151S		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	insulin-like 6 precursor	151						extracellular region	hormone activity				0	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		TTGTTTCTACGTTTCTTCTGA	0.338													T	5164104	G	T	5164104	3	4	146	1	0	0	0	0	1	0	0	0	7770	1145	40	5	194	5	INSL6	9	5164104	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	4451499	5164104	136049327	207	80762											
FREM1	158326	broad.mit.edu	37	chr9	14859323	14859323	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaggctagccatcctatcAtaatcgaatctgagcagatt	7	11	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr9:14859323A>C	uc003zlm.2	-	4	1079	c.489T>G	c.(487-489)TAT>TAG	p.Y163*	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	163					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		CCATCCTATCATAATCGAATC	0.507													C	14859323	A	C	14859323	4	2	146	1	0	0	0	0	0	1	0	0	6044	224	8	5	6236	5	FREM1	9	14859323	Nonsense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	9695219	14859323	126354108	208	80763											
KIAA1045	23349	broad.mit.edu	37	chr9	34972446	34972446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgatggctgcctgcgccGcatgggctacatccaaggag	13	13	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr9:34972446G>A	uc003zvq.2	+	3	660	c.482G>A	c.(481-483)CGC>CAC	p.R161H	KIAA1045_uc003zvr.2_Missense_Mutation_p.R161H	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	161	PHD-type.						calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)			TGCCTGCGCCGCATGGGCTAC	0.577													A	34972446	G	A	34972446	3	1	146	1	0	0	0	0	1	0	0	0	8207	1087	38	1	488	1	KIAA1045	9	34972446	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	20113123	34972446	106240985	209	80764											
CD72	971	broad.mit.edu	37	chr9	35612891	35612891	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggccagcttggaagacagaGtttcacattgtttttggctc	11	8	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr9:35612891G>T	uc003zxb.2	-	6	912	c.788C>A	c.(787-789)ACT>AAT	p.T263N	CD72_uc003zxc.1_Missense_Mutation_p.T48N|CD72_uc010mkt.1_Missense_Mutation_p.T48N|CD72_uc010mku.2_Missense_Mutation_p.T263N	NM_001782	NP_001773	P21854	CD72_HUMAN	CD72 molecule	263	C-type lectin.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity				0			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGAAGACAGAGTTTCACATTG	0.423													T	35612891	G	T	35612891	3	4	146	1	0	0	0	0	1	0	0	0	3034	1029	36	5	303	5	CD72	9	35612891	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	640445	35612891	105600540	210	80765											
TLN1	7094	broad.mit.edu	37	chr9	35704345	35704345	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttaccggtggtcagcgaaagTttcagtaccctcacgattga	10	10	3	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr9:35704345T>A	uc003zxt.2	-	45	6385	c.6031A>T	c.(6031-6033)ACT>TCT	p.T2011S		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	2011					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCAGCGAAAGTTTCAGTACCC	0.587													A	35704345	T	A	35704345	3	1	146	1	0	0	0	0	1	0	0	0	15944	1725	60	5	1646	5	TLN1	9	35704345	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	91454	35704345	105509086	211	80766											
SHC3	53358	broad.mit.edu	37	chr9	91628480	91628480	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactgtcaaagactctgtccTttgtccggatctatgaatga	8	9	3	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr9:91628480T>C	uc004aqg.2	-	12	1974	c.1667A>G	c.(1666-1668)AAG>AGG	p.K556R		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	556	SH2.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4						GACTCTGTCCTTTGTCCGGAT	0.488													C	91628480	T	C	91628480	3	2	146	1	0	0	0	0	1	0	0	0	14272	1609	56	3	121	3	SHC3	9	91628480	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	55924135	91628480	49584951	212	80767											
AUH	549	broad.mit.edu	37	chr9	93983218	93983218	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcgaggactcgcgcagagaAtatgagctccttggccaggg	14	10	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr9:93983218A>G	uc004arf.3	-	7	747	c.712T>C	c.(712-714)TTC>CTC	p.F238L	AUH_uc004arg.3_Missense_Mutation_p.F209L	NM_001698	NP_001689	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-Coenzyme A	238					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding				0						CGCGCAGAGAATATGAGCTCC	0.557													G	93983218	A	G	93983218	3	3	146	1	0	0	0	0	1	0	0	0	1219	101	4	3	323	3	AUH	9	93983218	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	2354738	93983218	47230213	213	80768											
ECM2	1842	broad.mit.edu	37	chr9	95258657	95258657	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatcttatgcatgaaaatgtGtaagatggtatttctctaat	8	4	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr9:95258657G>C	uc004ash.2	-	10	2105	c.2040C>G	c.(2038-2040)TAC>TAG	p.Y680*	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Intron|ECM2_uc011lty.1_Nonsense_Mutation_p.Y680*|ECM2_uc004asg.2_Nonsense_Mutation_p.Y658*|ECM2_uc010mqz.1_Nonsense_Mutation_p.Y102*	NM_001393	NP_001384	O94769	ECM2_HUMAN	extracellular matrix protein 2 precursor	680	LRR 13.				cell-matrix adhesion		integrin binding			ovary(1)|skin(1)	2						ATGAAAATGTGTAAGATGGTA	0.303													C	95258657	G	C	95258657	4	2	146	1	0	0	0	0	0	1	0	0	4898	1372	48	5	63	5	ECM2	9	95258657	Nonsense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	1275439	95258657	45954774	214	80769											
FAM120A	23196	broad.mit.edu	37	chr9	96312912	96312912	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcggcgtcaggagctagatgCcttcctggctcaggcgctgt	14	12	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr9:96312912C>G	uc004atw.2	+	12	2238	c.2213C>G	c.(2212-2214)GCC>GGC	p.A738G	FAM120A_uc004aty.2_Missense_Mutation_p.A519G|FAM120A_uc004atz.2_Missense_Mutation_p.A387G|FAM120A_uc010mrg.2_Missense_Mutation_p.A51G	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	738						cytoplasm|plasma membrane	RNA binding				0						GAGCTAGATGCCTTCCTGGCT	0.557													G	96312912	C	G	96312912	3	3	146	1	0	0	0	0	1	0	0	0	5415	739	26	5	2259	5	FAM120A	9	96312912	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	1054255	96312912	44900519	215	80770											
FAM120A	23196	broad.mit.edu	37	chr9	96326712	96326729	+	In_Frame_Del	DEL	AATGACTCTAAAACGTGC	AATGACTCTAAAACGTGC	-													actctgaaagtgccttgaatAatgactctaaaacgtgcaat							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr9:96326711_96326728TAATGACTCTAAAACGTGC>T	uc004atw.3	+	17	3271_3288	c.3246_3263TAATGACTCTAAAACGTGC>T	c.(3244-3264)aataatgactctaaaacgtgc>aaTc	p.NDSKTC1083del	FAM120A_uc004aty.3_In_Frame_Del_p.NDSKTC864del|FAM120A_uc004atz.3_In_Frame_Del_p.NDSKTC731del|FAM120A_uc010mrg.3_In_Frame_Del_p.NDSKTC350del|FAM120A_uc004aua.1_Non-coding_Transcript	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	1083	RNA binding.					cytoplasm|plasma membrane	RNA binding	p.T1087M(2)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTGCCTTGAATAATGACTCTAAAACGTGCAATACAAAT	0.505													-	96326729	AATGACTCTAAAACGTGC	-	96326712	7	5	146	1	0	1	0	1	0	0	0	0	5415	362	13	0	3317	0	FAM120A	9	96326712	In_Frame_Del	DEL	AATGACTCTAAAACGTGC	TCGA-CD-8529-01A-11D-2340-08	13800	96326712	44886719	216	80771											
GRIN3A	116443	broad.mit.edu	37	chr9	104335715	104335715	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggttttgtccttcctcatcaCtaaagatgtatttccgtcgg	8	10	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr9:104335715C>G	uc004bbp.1	-	9	3690	c.3089G>C	c.(3088-3090)AGT>ACT	p.S1030T	GRIN3A_uc004bbo.1_Missense_Mutation_p.S105T	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	1030	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TTCCTCATCACTAAAGATGTA	0.512													G	104335715	C	G	104335715	3	3	146	1	0	0	0	0	1	0	0	0	6783	565	20	5	262	5	GRIN3A	9	104335715	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	8009003	104335715	36877716	217	80772											
FKTN	2218	broad.mit.edu	37	chr9	108337325	108337325	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cacagactaatgagtagaatCaataagaacgtggttttggc	10	6	1	4			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr9:108337325C>G	uc004bcr.2	+	3	228	c.12C>G	c.(10-12)ATC>ATG	p.I4M	FKTN_uc011lvx.1_Missense_Mutation_p.I4M|FKTN_uc004bcs.2_Missense_Mutation_p.I4M|FKTN_uc011lvy.1_Missense_Mutation_p.I4M|FKTN_uc010mtm.2_Translation_Start_Site	NM_001079802	NP_001073270	O75072	FKTN_HUMAN	fukutin	4	Cytoplasmic (Potential).				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(2)|ovary(1)	3						TGAGTAGAATCAATAAGAACG	0.353													G	108337325	C	G	108337325	3	3	146	1	0	0	0	0	1	0	0	0	5919	816	29	5	14	5	FKTN	9	108337325	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	4001610	108337325	32876106	218	80773											
TMEM38B	55151	broad.mit.edu	37	chr9	108484874	108484874	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	taaaaggagattggaaaccaGaaggtgatgaatggctgaag	14	3	0	5			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr9:108484874G>C	uc004bcu.1	+	4	631	c.514G>C	c.(514-516)GAA>CAA	p.E172Q	TMEM38B_uc010mtn.1_Intron	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	172	Lumenal (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			ovary(1)|skin(1)	2						TTGGAAACCAGAAGGTGATGA	0.323													C	108484874	G	C	108484874	3	2	146	1	0	0	0	0	1	0	0	0	16157	943	33	5	528	5	TMEM38B	9	108484874	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	147549	108484874	32728557	219	80774											
LPAR1	1902	broad.mit.edu	37	chr9	113703796	113703796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattctcatagtcctctggCgaacatagccaaagatgtga	8	10	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr9:113703796C>T	uc004bfa.2	-	4	953	c.698G>A	c.(697-699)CGC>CAC	p.R233H	LPAR1_uc011lwm.1_Missense_Mutation_p.R234H|LPAR1_uc004bfb.2_Missense_Mutation_p.R233H|LPAR1_uc004bfc.2_Missense_Mutation_p.R233H|LPAR1_uc011lwn.1_Missense_Mutation_p.R215H|LPAR1_uc011lwo.1_Missense_Mutation_p.R234H|LPAR1_uc010mub.2_Missense_Mutation_p.R233H	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	233	Cytoplasmic (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				ovary(2)	2						AGTCCTCTGGCGAACATAGCC	0.483													T	113703796	C	T	113703796	3	4	146	1	0	0	0	0	1	0	0	0	8904	768	27	1	404	1	LPAR1	9	113703796	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	5218922	113703796	27509635	220	80775											
ZNF883	169834	broad.mit.edu	37	chr9	115759828	115759828	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctttccacatgcattacactCatagggtttttctccagtat	5	11	2	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr9:115759828C>G	uc011lwy.1	-	5	1951	c.712G>C	c.(712-714)GAG>CAG	p.E238Q		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	hypothetical protein LOC169834	238	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCATTACACTCATAGGGTTTT	0.418													G	115759828	C	G	115759828	3	3	146	1	0	0	0	0	1	0	0	0	18195	835	29	5	429	5	ZNF883	9	115759828	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	2056032	115759828	25453603	221	80776											
DFNB31	25861	broad.mit.edu	37	chr9	117266496	117266496	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtgggtcacccgggccaGggatttgtcgttgacgcgca	16	12	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr9:117266496G>C	uc004biz.3	-	1	1235	c.586C>G	c.(586-588)CTG>GTG	p.L196V	DFNB31_uc004biy.3_5'Flank|DFNB31_uc004bja.3_Missense_Mutation_p.L196V|DFNB31_uc004bjb.2_Missense_Mutation_p.L196V	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	196	PDZ 1.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						ACCCGGGCCAGGGATTTGTCG	0.443													C	117266496	G	C	117266496	3	2	146	1	0	0	0	0	1	0	0	0	4455	991	35	5	2185	5	DFNB31	9	117266496	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	1506668	117266496	23946935	222	80777											
OR1L1	26737	broad.mit.edu	37	chr9	125423975	125423975	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgttacagtgttagtttatCtttaggtgaacccacaacta	7	8	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr9:125423975C>G	uc011lza.1	+	1	131	c.131C>G	c.(130-132)TCT>TGT	p.S44C		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L,	44	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						GTTAGTTTATCTTTAGGTGAA	0.378													G	125423975	C	G	125423975	3	3	146	1	0	0	0	0	1	0	0	0	10963	928	32	5		5	OR1L1	9	125423975	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	8157479	125423975	15789456	223	80778											
RABGAP1	23637	broad.mit.edu	37	chr9	125863928	125863928	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ataagctcaaccaaggaggtTttagatgaggacacggatga	12	6	1	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr9:125863928T>A	uc011lzh.1	+	25	3107	c.2973T>A	c.(2971-2973)GTT>GTA	p.V991V	RABGAP1_uc004bnl.3_RNA|RABGAP1_uc011lzj.1_Silent_p.V330V	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	991	Potential.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						CCAAGGAGGTTTTAGATGAGG	0.478													A	125863928	T	A	125863928	2	1	146	1	0	0	0	0	0	0	0	1	12964	1828	64	5		5	RABGAP1	9	125863928	Silent	SNP	T	TCGA-CD-8529-01A-11D-2340-08	439953	125863928	15349503	224	80779											
SPTAN1	6709	broad.mit.edu	37	chr9	131394978	131394978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgagttcgaggcaatcctgGacacggtggatccgaacagg	14	10	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr9:131394978G>A	uc004bvl.3	+	54	7239	c.7126G>A	c.(7126-7128)GAC>AAC	p.D2376N	SPTAN1_uc004bvm.3_Missense_Mutation_p.D2381N|SPTAN1_uc004bvn.3_Missense_Mutation_p.D2356N|SPTAN1_uc004bvo.3_Missense_Mutation_p.D143N|SPTAN1_uc004bvp.3_Missense_Mutation_p.D119N	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2376	EF-hand 2.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						GGCAATCCTGGACACGGTGGA	0.597													A	131394978	G	A	131394978	3	1	146	1	0	0	0	0	1	0	0	0	15116	1174	41	4	7355	4	SPTAN1	9	131394978	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	5531050	131394978	9818453	225	80780											
DOLK	22845	broad.mit.edu	37	chr9	131708695	131708695	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggctaggaggtagatgcgGgtgtctgtctggaagagaaa	17	4	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr9:131708695G>A	uc004bwr.2	-	1	1318	c.888C>T	c.(886-888)ACC>ACT	p.T296T	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	dolichol kinase	296	Lumenal (Potential).				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity				0						GGTAGATGCGGGTGTCTGTCT	0.587													A	131708695	G	A	131708695	2	1	146	1	0	0	0	0	0	0	0	1	4703	1219	43	4		4	DOLK	9	131708695	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	313717	131708695	9504736	226	80781											
BRD3	8019	broad.mit.edu	37	chr9	136910450	136910450	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catggccacaacctcgtggtCtgggggattgtatttgtagc	13	9	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr9:136910450C>A	uc004cew.2	-	7	1368	c.1180G>T	c.(1180-1182)GAC>TAC	p.D394Y	BRD3_uc004cex.2_Missense_Mutation_p.D394Y	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	394	Bromo 2.					nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		ACCTCGTGGTCTGGGGGATTG	0.602			T	NUT|C15orf55	lethal midline carcinoma of young people								A	136910450	C	A	136910450	3	1	146	1	0	0	0	0	1	0	0	0	1503	913	32	5	1024	5	BRD3	9	136910450	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	5201755	136910450	4302981	227	80782											
CACNA1B	774	broad.mit.edu	37	chr9	141015241	141015241	+	Frame_Shift_Del	DEL	T	T	-													gcttctactcctgcgaccgcTttgggggccgtgagcccccg							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr9:141015241delT	uc004cog.2	+	45	6542	c.6397delT	c.(6397-6399)TTTfs	p.F2133fs	CACNA1B_uc004coi.2_Frame_Shift_Del_p.F1345fs	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	2133	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTGCGACCGCTTTGGGGGCCG	0.706													-	141015241	T	-	141015241	7	5	146	1	0	1	0	1	0	0	0	0	2539	1609	56	0	6575	0	CACNA1B	9	141015241	Frame_Shift_Del	DEL	T	TCGA-CD-8529-01A-11D-2340-08	4104791	141015241	198190	228	80783											
OPTN	10133	broad.mit.edu	37	chr10	13154606	13154606	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgaactccagcggctcctcaGaagattcctttgttgaaatt	8	10	1	4			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr10:13154606G>C	uc001ilu.1	+	6	961	c.523G>C	c.(523-525)GAA>CAA	p.E175Q	OPTN_uc001ilv.1_Missense_Mutation_p.E175Q|OPTN_uc001ilw.1_Missense_Mutation_p.E175Q|OPTN_uc001ilx.1_Missense_Mutation_p.E175Q|OPTN_uc001ily.1_Missense_Mutation_p.E175Q|OPTN_uc010qbr.1_Missense_Mutation_p.E118Q|OPTN_uc001ilz.1_Missense_Mutation_p.E175Q	NM_001008213	NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	175	Interaction with Rab8.				cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			ovary(2)	2						CGGCTCCTCAGAAGATTCCTT	0.468													C	13154606	G	C	13154606	3	2	146	1	0	0	0	0	1	0	0	0	10889	943	33	5	533	5	OPTN	10	13154606	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08		13154606	122380141	229	80784											
PTER	9317	broad.mit.edu	37	chr10	16553049	16553049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaacatttttcacagggtgCgtctcctggtggaagagggc	13	8	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr10:16553049C>T	uc001iog.1	+	6	1051	c.844C>T	c.(844-846)CGT>TGT	p.R282C	PTER_uc001ioh.1_Missense_Mutation_p.R282C|PTER_uc001ioi.1_Missense_Mutation_p.R282C|PTER_uc009xjp.1_Missense_Mutation_p.R235C	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	phosphotriesterase related	282					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			ovary(2)	2						TCACAGGGTGCGTCTCCTGGT	0.413													T	16553049	C	T	16553049	3	4	146	1	0	0	0	0	1	0	0	0	12739	768	27	1	858	1	PTER	10	16553049	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	3398443	16553049	118981698	230	80785											
VIM	7431	broad.mit.edu	37	chr10	17277193	17277193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccctggaacgccagatgcGtgaaatggaagagaactttg	13	8	0	3	rs116370722	by1000genomes	TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr10:17277193G>A	uc001iou.2	+	7	1447	c.1034G>A	c.(1033-1035)CGT>CAT	p.R345H	VIM_uc001iov.1_Missense_Mutation_p.R345H|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.R345H|VIM_uc001ioy.1_Intron|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.R303H|VIM_uc001ipc.1_Missense_Mutation_p.R345H	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	345	Rod.|Coil 2.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CGCCAGATGCGTGAAATGGAA	0.478													A	17277193	G	A	17277193	3	1	146	1	0	0	0	0	1	0	0	0	17163	1145	40	1	1056	1	VIM	10	17277193	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	724144	17277193	118257554	231	80786											
ARHGAP21	57584	broad.mit.edu	37	chr10	24874802	24874802	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgctgttttctttggcaatGatgatcttctgttttctgcc	9	8	4	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr10:24874802G>A	uc001isb.2	-	26	4903	c.4416C>T	c.(4414-4416)ATC>ATT	p.I1472I	ARHGAP21_uc010qdb.1_RNA	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1471					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						CTTTGGCAATGATGATCTTCT	0.398													A	24874802	G	A	24874802	2	1	146	1	0	0	0	0	0	0	0	1	871	1280	45	4		4	ARHGAP21	10	24874802	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	7597609	24874802	110659945	232	80787											
GDF10	2662	broad.mit.edu	37	chr10	48438481	48438481	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catagagcctgtgcatgtggAcagcgaccatgtcctgggcg	14	11	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr10:48438481A>G	uc001jfb.2	-	1	686	c.230T>C	c.(229-231)GTC>GCC	p.V77A	GDF10_uc009xnp.2_Missense_Mutation_p.V77A|GDF10_uc009xnq.1_Missense_Mutation_p.V77A	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	77					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2						GTGCATGTGGACAGCGACCAT	0.721													G	48438481	A	G	48438481	3	3	146	1	0	0	0	0	1	0	0	0	6311	275	10	3	1218	3	GDF10	10	48438481	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	23563679	48438481	87096266	233	80788											
CHAT	1103	broad.mit.edu	37	chr10	50872977	50872977	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcaagtttgcaaaagctgTggaagaaagcctcattgaca	10	7	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr10:50872977T>C	uc001jhz.2	+	15	2285	c.2132T>C	c.(2131-2133)GTG>GCG	p.V711A	CHAT_uc001jhv.1_Missense_Mutation_p.V593A|CHAT_uc001jhx.1_Missense_Mutation_p.V593A|CHAT_uc001jhy.1_Missense_Mutation_p.V593A|CHAT_uc001jia.2_Missense_Mutation_p.V593A|CHAT_uc010qgs.1_Intron	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	711					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GCAAAAGCTGTGGAAGAAAGC	0.512													C	50872977	T	C	50872977	3	2	146	1	0	0	0	0	1	0	0	0	3313	1696	59	3	2234	3	CHAT	10	50872977	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	2434496	50872977	84661770	234	80789											
PCDH15	65217	broad.mit.edu	37	chr10	55955580	55955580	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaaatatggactttgatTgttttcatccagtatttcaa	6	5	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr10:55955580T>A	uc001jju.1	-	11	1563	c.1168A>T	c.(1168-1170)AAT>TAT	p.N390Y	PCDH15_uc010qhq.1_Missense_Mutation_p.N395Y|PCDH15_uc010qhr.1_Missense_Mutation_p.N390Y|PCDH15_uc010qhs.1_Missense_Mutation_p.N395Y|PCDH15_uc010qht.1_Missense_Mutation_p.N390Y|PCDH15_uc010qhu.1_Missense_Mutation_p.N390Y|PCDH15_uc001jjv.1_Missense_Mutation_p.N368Y|PCDH15_uc010qhv.1_Missense_Mutation_p.N390Y|PCDH15_uc010qhw.1_Missense_Mutation_p.N353Y|PCDH15_uc010qhx.1_Missense_Mutation_p.N390Y|PCDH15_uc010qhy.1_Missense_Mutation_p.N395Y|PCDH15_uc010qhz.1_Missense_Mutation_p.N390Y|PCDH15_uc010qia.1_Missense_Mutation_p.N368Y|PCDH15_uc010qib.1_Missense_Mutation_p.N368Y|PCDH15_uc001jjw.2_Missense_Mutation_p.N390Y	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	390	Cadherin 3.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				GGACTTTGATTGTTTTCATCC	0.398										HNSCC(58;0.16)			A	55955580	T	A	55955580	3	1	146	1	0	0	0	0	1	0	0	0	11511	1812	63	5	6435	5	PCDH15	10	55955580	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	5082603	55955580	79579167	235	80790											
TMEM26	219623	broad.mit.edu	37	chr10	63170177	63170177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgccagtcccgctgagagGgcccactctcagaggtctgt	12	14	3	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr10:63170177G>A	uc001jlo.2	-	6	1379	c.1010C>T	c.(1009-1011)CCC>CTC	p.P337L	TMEM26_uc010qij.1_RNA|TMEM26_uc001jlp.1_RNA	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	337						integral to membrane					0	Prostate(12;0.0112)					CCGCTGAGAGGGCCCACTCTC	0.592													A	63170177	G	A	63170177	3	1	146	1	0	0	0	0	1	0	0	0	16148	1232	43	4	100	4	TMEM26	10	63170177	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	7214597	63170177	72364570	236	80791											
CCAR1	55749	broad.mit.edu	37	chr10	70507010	70507010	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttaaatggaatgcacagaGaattcaaacactaccaaatc	5	8	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr10:70507010G>A	uc001joo.2	+	7	730	c.611G>A	c.(610-612)AGA>AAA	p.R204K	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Missense_Mutation_p.R9K|CCAR1_uc009xpx.1_Missense_Mutation_p.R178K|CCAR1_uc001jon.1_Missense_Mutation_p.R150K|CCAR1_uc010qiz.1_Missense_Mutation_p.R189K|CCAR1_uc010qja.1_Missense_Mutation_p.R189K|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	204					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7						AATGCACAGAGAATTCAAACA	0.338													A	70507010	G	A	70507010	3	1	146	1	0	0	0	0	1	0	0	0	2730	942	33	4	633	4	CCAR1	10	70507010	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	7336833	70507010	65027737	237	80792											
OPN4	94233	broad.mit.edu	37	chr10	88419067	88419067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccaggcgcctacgtgccCgaggggttgctgacatcctg	13	15	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr10:88419067C>T	uc001kdq.2	+	5	869	c.642C>T	c.(640-642)CCC>CCT	p.P214P	OPN4_uc001kdp.2_Silent_p.P225P|OPN4_uc010qmk.1_Silent_p.P225P|OPN4_uc009xsx.1_5'Flank	NM_033282	NP_150598	Q9UHM6	OPN4_HUMAN	opsin 4 isoform 1	214	Extracellular (Potential).				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			ovary(1)	1						CCTACGTGCCCGAGGGGTTGC	0.622													T	88419067	C	T	88419067	2	4	146	1	0	0	0	0	0	0	0	1	10882	639	23	1		1	OPN4	10	88419067	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	17912057	88419067	47115680	238	80793											
TM9SF3	56889	broad.mit.edu	37	chr10	98325076	98325076	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttaccccatattggtaaatCatctatgtacatctggtacc	5	11	3	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr10:98325076C>T	uc001kmm.3	-	3	623	c.406G>A	c.(406-408)GAT>AAT	p.D136N	TM9SF3_uc010qot.1_Missense_Mutation_p.D136N	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	136						integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		ATTGGTAAATCATCTATGTAC	0.308													T	98325076	C	T	98325076	3	4	146	1	0	0	0	0	1	0	0	0	15976	826	29	4	1415	4	TM9SF3	10	98325076	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	9906009	98325076	37209671	239	80794											
PKD2L1	9033	broad.mit.edu	37	chr10	102056924	102056924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgactgtgcggatttgccagGatgggatggcacctcctgta	14	9	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr10:102056924G>A	uc001kqx.1	-	6	1381	c.998C>T	c.(997-999)TCC>TTC	p.S333F	PKD2L1_uc009xwm.1_Missense_Mutation_p.S286F	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	333	Helical; (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GATTTGCCAGGATGGGATGGC	0.557													A	102056924	G	A	102056924	3	1	146	1	0	0	0	0	1	0	0	0	11967	1174	41	4	1463	4	PKD2L1	10	102056924	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	3731848	102056924	33477823	240	80795											
SEMA4G	57715	broad.mit.edu	37	chr10	102739929	102739929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaattcatcccaagacttGccatccctggtcctggactt	6	14	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr10:102739929G>A	uc010qpt.1	+	11	1622	c.1179G>A	c.(1177-1179)TTG>TTA	p.L393L	SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krw.1_Silent_p.L393L|SEMA4G_uc001krx.2_Silent_p.L393L|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	semaphorin 4G	393	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CCCAAGACTTGCCATCCCTGG	0.587													A	102739929	G	A	102739929	2	1	146	1	0	0	0	0	0	0	0	1	14036	1310	46	2		2	SEMA4G	10	102739929	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	683005	102739929	32794818	241	80796											
ADRA2A	150	broad.mit.edu	37	chr10	112838907	112838907	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgggcggcagaaccgcgagAagcgcttcacgttcgtgctg	16	12	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr10:112838907A>C	uc001kzo.2	+	1	2118	c.1153A>C	c.(1153-1155)AAG>CAG	p.K385Q		NM_000681	NP_000672	P08913	ADA2A_HUMAN	alpha-2A-adrenergic receptor	370	Cytoplasmic (By similarity).				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding				0		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	GAACCGCGAGAAGCGCTTCAC	0.667													C	112838907	A	C	112838907	3	2	146	1	0	0	0	0	1	0	0	0	337	247	9	5	1155	5	ADRA2A	10	112838907	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	10098978	112838907	22695840	242	80797											
TCF7L2	6934	broad.mit.edu	37	chr10	114799863	114799863	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agccctcaaggatgcccggtCcccatcaccggcacacattg	9	17	2	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr10:114799863C>A	uc001lae.3	+	5	1037	c.530C>A	c.(529-531)TCC>TAC	p.S177Y	TCF7L2_uc001lac.3_Missense_Mutation_p.S154Y|TCF7L2_uc010qrk.1_Missense_Mutation_p.S154Y|TCF7L2_uc010qrl.1_Missense_Mutation_p.S154Y|TCF7L2_uc010qrm.1_Missense_Mutation_p.S177Y|TCF7L2_uc010qrn.1_Intron|TCF7L2_uc001lad.3_Missense_Mutation_p.S154Y|TCF7L2_uc001lag.3_Missense_Mutation_p.S154Y|TCF7L2_uc001laf.3_Missense_Mutation_p.S154Y|TCF7L2_uc010qro.1_Missense_Mutation_p.S154Y|TCF7L2_uc001lah.2_Missense_Mutation_p.S154Y|TCF7L2_uc010qrp.1_Missense_Mutation_p.S154Y|TCF7L2_uc010qrq.1_Missense_Mutation_p.S154Y|TCF7L2_uc010qrr.1_Missense_Mutation_p.S48Y|TCF7L2_uc010qrs.1_Missense_Mutation_p.S48Y|TCF7L2_uc010qrt.1_Missense_Mutation_p.S48Y|TCF7L2_uc010qru.1_Missense_Mutation_p.S24Y	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	177					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GATGCCCGGTCCCCATCACCG	0.498													A	114799863	C	A	114799863	3	1	146	1	0	0	0	0	1	0	0	0	15695	855	30	5	548	5	TCF7L2	10	114799863	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	1960956	114799863	20734884	243	80798											
GFRA1	2674	broad.mit.edu	37	chr10	117884837	117884837	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtctgtcgcctccgctctGtgcaggcgatgtcccggcag	14	14	2	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr10:117884837G>T	uc001lcj.2	-	6	1363	c.665C>A	c.(664-666)ACA>AAA	p.T222K	GFRA1_uc001lci.2_Missense_Mutation_p.T217K|GFRA1_uc009xyr.2_Missense_Mutation_p.T217K	NM_005264	NP_005255	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1 isoform a	222	2.				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	p.Q222P(1)		ovary(1)|pancreas(1)	2		Lung NSC(174;0.21)		all cancers(201;0.0337)		CCTCCGCTCTGTGCAGGCGAT	0.577													T	117884837	G	T	117884837	3	4	146	1	0	0	0	0	1	0	0	0	6347	1377	48	5	756	5	GFRA1	10	117884837	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	3084974	117884837	17649910	244	80799											
C10orf137	26098	broad.mit.edu	37	chr10	127418920	127418920	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttggacaacttgatatgCaatgtgccagagcttgtgat	12	6	0	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr10:127418920C>T	uc001liq.1	+	9	1373	c.1080C>T	c.(1078-1080)TGC>TGT	p.C360C	C10orf137_uc001lin.2_Silent_p.C326C|C10orf137_uc001lio.1_Silent_p.C326C|C10orf137_uc001lip.1_Silent_p.C64C	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ACTTGATATGCAATGTGCCAG	0.328													T	127418920	C	T	127418920	2	4	146	1	0	0	0	0	0	0	0	1	1594	718	25	2		2	C10orf137	10	127418920	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	9534083	127418920	8115827	245	80800											
RRM1	6240	broad.mit.edu	37	chr11	4156468	4156468	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcctaactatggcaaaCtcactagtatgcacttctac	6	12	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:4156468C>G	uc001lyw.3	+	18	2477	c.2158C>G	c.(2158-2160)CTC>GTC	p.L720V	RRM1_uc009yej.2_RNA|RRM1_uc009yei.2_Missense_Mutation_p.L680V|RRM1_uc010qyc.1_Missense_Mutation_p.L623V|RRM1_uc010qyd.1_Missense_Mutation_p.L382V	NM_001033	NP_001024	P23921	RIR1_HUMAN	ribonucleoside-diphosphate reductase M1 chain	720					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	CTATGGCAAACTCACTAGTAT	0.413													G	4156468	C	G	4156468	3	3	146	1	0	0	0	0	1	0	0	0	13681	565	20	5	2228	5	RRM1	11	4156468	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08		4156468	130850048	246	80801											
OR56B1	387748	broad.mit.edu	37	chr11	5757906	5757906	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacttgctgcaaacaccctcAtcctcatcatcatctggcag	5	16	5	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:5757906A>T	uc001mbt.1	+	1	160	c.160A>T	c.(160-162)ATC>TTC	p.I54F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|OR56B1_uc001mbs.1_Missense_Mutation_p.I54F|OR56B1_uc009yev.1_Missense_Mutation_p.I54F	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B,	54	Helical; Name=1; (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)		AAACACCCTCATCCTCATCAT	0.507													T	5757906	A	T	5757906	3	4	146	1	0	0	0	0	1	0	0	0	11137	217	8	5	162	5	OR56B1	11	5757906	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	1601438	5757906	129248610	247	80802											
NLRP14	338323	broad.mit.edu	37	chr11	7060959	7060959	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagggtcggcccagactAtaggaccagatgatgccaag	13	10	0	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:7060959A>C	uc001mfb.1	+	3	627	c.304A>C	c.(304-306)ATA>CTA	p.I102L		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	102					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GGCCCAGACTATAGGACCAGA	0.473													C	7060959	A	C	7060959	3	2	146	1	0	0	0	0	1	0	0	0	10476	449	16	5	310	5	NLRP14	11	7060959	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	1303053	7060959	127945557	248	80803											
NLRP14	338323	broad.mit.edu	37	chr11	7064426	7064426	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagaagggtggtgatgtcaCattgacctgccaaacaacca	12	9	1	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:7064426C>A	uc001mfb.1	+	4	1492	c.1169C>A	c.(1168-1170)ACA>AAA	p.T390K		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	390	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GGTGATGTCACATTGACCTGC	0.493													A	7064426	C	A	7064426	3	1	146	1	0	0	0	0	1	0	0	0	10476	478	17	5	1179	5	NLRP14	11	7064426	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	3467	7064426	127942090	249	80804											
SBF2	81846	broad.mit.edu	37	chr11	10024150	10024150	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttccagggctctacaagcatCactaagtctctggaaacttg	8	11	3	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:10024150C>T	uc001mib.2	-	7	844	c.706G>A	c.(706-708)GAT>AAT	p.D236N	SBF2_uc001mif.3_5'UTR	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	236	DENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTACAAGCATCACTAAGTCTC	0.348													T	10024150	C	T	10024150	3	4	146	1	0	0	0	0	1	0	0	0	13859	826	29	4	4979	4	SBF2	11	10024150	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	2959724	10024150	124982366	250	80805											
AMPD3	272	broad.mit.edu	37	chr11	10506555	10506555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctacacggtggacatgagcCacatcctggctctcatcacc	8	16	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:10506555C>T	uc001mio.1	+	5	1113	c.778C>T	c.(778-780)CAC>TAC	p.H260Y	AMPD3_uc010rbz.1_Missense_Mutation_p.H101Y|AMPD3_uc001min.1_Missense_Mutation_p.H269Y|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Missense_Mutation_p.H260Y|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.H267Y|AMPD3_uc009yfy.2_Missense_Mutation_p.H260Y	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	260					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GGACATGAGCCACATCCTGGC	0.567													T	10506555	C	T	10506555	3	4	146	1	0	0	0	0	1	0	0	0	587	594	21	4	843	4	AMPD3	11	10506555	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	482405	10506555	124499961	251	80806											
SPTY2D1	144108	broad.mit.edu	37	chr11	18636837	18636837	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatttctgagtcctgctagcAgaagtctttgggacacttgg	12	8	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:18636837A>T	uc001moy.2	-	3	1200	c.984T>A	c.(982-984)TCT>TCA	p.S328S	SPTY2D1_uc010rdi.1_Silent_p.S328S	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	328	Ser-rich.									breast(1)	1						TCCTGCTAGCAGAAGTCTTTG	0.517													T	18636837	A	T	18636837	2	4	146	1	0	0	0	0	0	0	0	1	15125	175	7	5		5	SPTY2D1	11	18636837	Silent	SNP	A	TCGA-CD-8529-01A-11D-2340-08	8130282	18636837	116369679	252	80807											
IGSF22	283284	broad.mit.edu	37	chr11	18738373	18738373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttaatcttaagcgtgtgcGtcagaccatcttcggacacc	8	13	3	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:18738373G>A	uc009yht.2	-	10	1338	c.1148C>T	c.(1147-1149)ACG>ATG	p.T383M	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	383										ovary(4)|large_intestine(2)|kidney(1)	7						AAGCGTGTGCGTCAGACCATC	0.527													A	18738373	G	A	18738373	3	1	146	1	0	0	0	0	1	0	0	0	7600	1145	40	1	2888	1	IGSF22	11	18738373	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	101536	18738373	116268143	253	80808											
NELL1	4745	broad.mit.edu	37	chr11	21250984	21250984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaccgggctacgtggggaaCgggaccatctgcagaggtag	16	9	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:21250984C>T	uc001mqe.2	+	14	1686	c.1533C>T	c.(1531-1533)AAC>AAT	p.N511N	NELL1_uc001mqf.2_Silent_p.N511N|NELL1_uc009yid.2_Silent_p.N539N|NELL1_uc010rdo.1_Silent_p.N454N|NELL1_uc010rdp.1_Silent_p.N271N	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	511	EGF-like 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						ACGTGGGGAACGGGACCATCT	0.572													T	21250984	C	T	21250984	2	4	146	1	0	0	0	0	0	0	0	1	10333	535	19	1		1	NELL1	11	21250984	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	2512611	21250984	113755532	254	80809											
PAX6	5080	broad.mit.edu	37	chr11	31815288	31815288	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaggtgtgttgctggcctgTcttctctgattcctcagttt	10	10	3	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:31815288T>C	uc001mtd.3	-	9	1718	c.828A>G	c.(826-828)AGA>AGG	p.R276R	PAX6_uc001mte.3_Silent_p.R276R|PAX6_uc001mtg.3_Silent_p.R290R|PAX6_uc001mtf.3_Silent_p.R276R|PAX6_uc001mth.3_Silent_p.R276R|PAX6_uc009yjr.2_Silent_p.R276R	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	276					blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					TGCTGGCCTGTCTTCTCTGAT	0.458									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				C	31815288	T	C	31815288	2	2	146	1	0	0	0	0	0	0	0	1	11483	1664	58	3		3	PAX6	11	31815288	Silent	SNP	T	TCGA-CD-8529-01A-11D-2340-08	10564304	31815288	103191228	255	80810											
PAX6	5080	broad.mit.edu	37	chr11	31816307	31816307	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actgatggagttggtattctCtccccctccttcctgttgct	8	13	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:31816307C>G	uc001mtd.3	-	7	1443	c.553G>C	c.(553-555)GAG>CAG	p.E185Q	PAX6_uc001mte.3_Missense_Mutation_p.E185Q|PAX6_uc001mtg.3_Missense_Mutation_p.E199Q|PAX6_uc001mtf.3_Missense_Mutation_p.E185Q|PAX6_uc001mth.3_Missense_Mutation_p.E185Q|PAX6_uc009yjr.2_Missense_Mutation_p.E185Q	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	185	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					TTGGTATTCTCTCCCCCTCCT	0.463									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				G	31816307	C	G	31816307	3	3	146	1	0	0	0	0	1	0	0	0	11483	922	32	5	739	5	PAX6	11	31816307	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	1019	31816307	103190209	256	80811											
WT1	7490	broad.mit.edu	37	chr11	32417870	32417870	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcttattgcagcctgggtaAgcacacatgaaggggcgttt	12	9	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:32417870A>T	uc001mtn.1	-	7	1378	c.1182T>A	c.(1180-1182)GCT>GCA	p.A394A	WT1_uc001mtl.1_Silent_p.A182A|WT1_uc001mtm.1_Silent_p.A165A|WT1_uc001mto.1_Silent_p.A394A|WT1_uc001mtp.1_Silent_p.A377A|WT1_uc001mtq.1_Silent_p.A377A|WT1_uc009yjs.1_RNA	NM_024426	NP_077744	P19544	WT1_HUMAN	Wilms tumor 1 isoform D	326	C2H2-type 1.				adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.R394P(6)|p.R394Q(4)|p.R394W(4)|p.R394G(2)|p.V380_S410del(1)	EWSR1/WT1(231)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			AGCCTGGGTAAGCACACATGA	0.537			D|Mis|N|F|S	EWSR1	Wilms|desmoplastic small round cell tumor	Wilms			Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				T	32417870	A	T	32417870	2	4	146	1	0	0	0	0	0	0	0	1	17405	59	3	5		5	WT1	11	32417870	Silent	SNP	A	TCGA-CD-8529-01A-11D-2340-08	601563	32417870	102588646	257	80812											
C11orf74	119710	broad.mit.edu	37	chr11	36680701	36680701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaagcagcagaagagaaagGacaccagcccagacttagag	12	10	0	4			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:36680701G>A	uc001mwy.1	+	6	704	c.631G>A	c.(631-633)GAC>AAC	p.D211N	C11orf74_uc010rfd.1_RNA|C11orf74_uc001mww.1_Missense_Mutation_p.D137N|C11orf74_uc001mwx.1_Intron|C11orf74_uc001mwz.1_Missense_Mutation_p.D137N|C11orf74_uc010rfe.1_Intron	NM_138787	NP_620142	Q86VG3	CK074_HUMAN	hypothetical protein LOC119710	211											0	all_lung(20;0.226)	all_hematologic(20;0.0118)				GAAGAGAAAGGACACCAGCCC	0.383													A	36680701	G	A	36680701	3	1	146	1	0	0	0	0	1	0	0	0	1662	1174	41	4	649	4	C11orf74	11	36680701	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	4262831	36680701	98325815	258	80813											
TSPAN18	90139	broad.mit.edu	37	chr11	44931284	44931284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgcctgctggccatcgGcatctgggtcatggtggacc	15	13	2	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:44931284G>A	uc001mye.3	+	3	253	c.92G>A	c.(91-93)GGC>GAC	p.G31D	TP53I11_uc001myf.1_Intron|TSPAN18_uc001myg.2_Missense_Mutation_p.G31D	NM_130783	NP_570139	Q96SJ8	TSN18_HUMAN	tetraspanin 18 isoform 2	31	Helical; (Potential).					integral to membrane					0						CTGGCCATCGGCATCTGGGTC	0.662													A	44931284	G	A	44931284	3	1	146	1	0	0	0	0	1	0	0	0	16639	1203	42	2	98	2	TSPAN18	11	44931284	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	8250583	44931284	90075232	259	80814											
AMBRA1	55626	broad.mit.edu	37	chr11	46419435	46419435	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcatgccgccctccgccatCagcctctggatcctgctgag	10	17	3	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:46419435C>A	uc010rgu.1	-	18	3822	c.3462G>T	c.(3460-3462)CTG>CTT	p.L1154L	AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Silent_p.L1125L|AMBRA1_uc001ncu.1_Silent_p.L1064L|AMBRA1_uc001ncv.2_Silent_p.L1157L|AMBRA1_uc001ncw.2_Silent_p.L1035L|AMBRA1_uc001ncx.2_Silent_p.L1094L	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	1154					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCTCCGCCATCAGCCTCTGGA	0.607													A	46419435	C	A	46419435	2	1	146	1	0	0	0	0	0	0	0	1	565	813	29	5		5	AMBRA1	11	46419435	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	1488151	46419435	88587081	260	80815											
PSMC3	5702	broad.mit.edu	37	chr11	47447454	47447454	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcagccgtgtgcgctggatGatctcctccgtggacatctt	12	12	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:47447454G>A	uc001nfh.2	-	2	317	c.123C>T	c.(121-123)ATC>ATT	p.I41I	PSMC3_uc009ylr.1_Silent_p.I41I	NM_002804	NP_002795	P17980	PRS6A_HUMAN	proteasome 26S ATPase subunit 3	41					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			ovary(4)	4				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGCGCTGGATGATCTCCTCCG	0.517													A	47447454	G	A	47447454	2	1	146	1	0	0	0	0	0	0	0	1	12687	1280	45	4		4	PSMC3	11	47447454	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	1028019	47447454	87559062	261	80816											
OR5AR1	219493	broad.mit.edu	37	chr11	56431887	56431887	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggctttctccacctgcggGtctcaccttactggcatcac	8	15	3	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:56431887G>T	uc010rjm.1	+	1	726	c.726G>T	c.(724-726)GGG>GGT	p.G242G		NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CCACCTGCGGGTCTCACCTTA	0.507													T	56431887	G	T	56431887	2	4	146	1	0	0	0	0	0	0	0	1	11145	1248	44	5		5	OR5AR1	11	56431887	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	8984433	56431887	78574629	262	80817											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57076370	57076371	+	Missense_Mutation	DNP	CT	CT	AC													cctgtccaactccacgctccCttgatttaaggaactctccg							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:57076370_57076371CT>AC	uc001njr.2	-	5	4126_4127	c.3814_3815AG>GT	c.(3814-3816)AGG>GTG	p.R1272V	TNKS1BP1_uc001njs.2_Missense_Mutation_p.R1272V|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.R723V	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1272	Gly-rich.|Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				TCCACGCTCCCTTGATTTAAGG	0.624													AC	57076371	CT	AC	57076370	3	1	146	1	0	0	0	0	1	0	0	0	16317	681	24	5	1398	5	TNKS1BP1	11	57076370	Missense_Mutation	DNP	CT	TCGA-CD-8529-01A-11D-2340-08	644483	57076370	77930146	263	80818											
OR9Q1	219956	broad.mit.edu	37	chr11	57946985	57946985	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcactgaatatcctgaatgGgcactccctctcttcctctt	5	14	3	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:57946985G>C	uc001nmj.2	+	3	385	c.69G>C	c.(67-69)TGG>TGC	p.W23C		NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q,	23	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.222)				ATCCTGAATGGGCACTCCCTC	0.458													C	57946985	G	C	57946985	3	2	146	1	0	0	0	0	1	0	0	0	11255	1241	43	5	71	5	OR9Q1	11	57946985	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	870615	57946985	77059531	264	80819											
SCYL1	57410	broad.mit.edu	37	chr11	65298186	65298186	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaggatttctgtcggcacaaGgtgctgccccagctgctgac	13	12	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:65298186G>C	uc001oea.1	+	7	1013	c.936G>C	c.(934-936)AAG>AAC	p.K312N	SCYL1_uc009yqk.2_Missense_Mutation_p.K312N|SCYL1_uc001oeb.1_Missense_Mutation_p.K312N|SCYL1_uc001oec.1_Missense_Mutation_p.K312N|SCYL1_uc001oed.1_Missense_Mutation_p.K169N|SCYL1_uc001oee.1_5'UTR	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A	312	Protein kinase.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			skin(1)	1						GTCGGCACAAGGTGCTGCCCC	0.592													C	65298186	G	C	65298186	3	2	146	1	0	0	0	0	1	0	0	0	13947	991	35	5	962	5	SCYL1	11	65298186	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	7351201	65298186	69708330	265	80820											
B3GNT1	11041	broad.mit.edu	37	chr11	66114059	66114059	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcccaggggtcctgccaagGtaccacgtaggcgggccgca	14	15	0	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:66114059G>T	uc001ohr.2	-	1	1103	c.958C>A	c.(958-960)CCT>ACT	p.P320T	BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank	NM_006876	NP_006867	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal	320	Lumenal (Potential).				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity				0						TCCTGCCAAGGTACCACGTAG	0.617													T	66114059	G	T	66114059	3	4	146	1	0	0	0	0	1	0	0	0	1256	1261	44	5	297	5	B3GNT1	11	66114059	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	815873	66114059	68892457	266	80821											
FAT3	120114	broad.mit.edu	37	chr11	92577512	92577512	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaatgtgtcccctgaggActtcgtggggctgcacatgc	13	10	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:92577512A>C	uc001pdj.3	+	18	10996	c.10979A>C	c.(10978-10980)GAC>GCC	p.D3660A	FAT3_uc001pdi.3_Missense_Mutation_p.D100A	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3660	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCCCTGAGGACTTCGTGGGG	0.577										TCGA Ovarian(4;0.039)			C	92577512	A	C	92577512	3	2	146	1	0	0	0	0	1	0	0	0	5691	275	10	5	11049	5	FAT3	11	92577512	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	26463453	92577512	42429004	267	80822											
CASP4	837	broad.mit.edu	37	chr11	104825631	104825631	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttcctcttccttccagttCagtacattttgttccaccaa	3	13	2	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:104825631C>T	uc001pid.1	-	2	178	c.105G>A	c.(103-105)CTG>CTA	p.L35L	CASP4_uc001pib.1_5'UTR|CASP4_uc009yxg.1_5'UTR|CASP4_uc010rux.1_Silent_p.L35L|CASP4_uc010ruy.1_Silent_p.L35L	NM_001225	NP_001216	P49662	CASP4_HUMAN	caspase 4 isoform alpha precursor	35	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			lung(2)|ovary(1)|skin(1)	4		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CCTTCCAGTTCAGTACATTTT	0.423													T	104825631	C	T	104825631	2	4	146	1	0	0	0	0	0	0	0	1	2673	813	29	4		4	CASP4	11	104825631	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	12248119	104825631	30180885	268	80823											
CEP164	22897	broad.mit.edu	37	chr11	117261589	117261589	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tcctggctccgagctcaggtCcagtccagcacacaagcaga	10	15	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:117261589C>G	uc001prc.2	+	16	2178	c.2031C>G	c.(2029-2031)GTC>GTG	p.V677V	CEP164_uc001prb.2_Silent_p.V680V|CEP164_uc010rxk.1_Silent_p.V651V|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Silent_p.V110V	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	677	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GAGCTCAGGTCCAGTCCAGCA	0.612													G	117261589	C	G	117261589	2	3	146	1	0	0	0	0	0	0	0	1	3249	842	30	5		5	CEP164	11	117261589	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	12435958	117261589	17744927	269	80824											
DDX6	1656	broad.mit.edu	37	chr11	118630742	118630742	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcacaaaatcctgtgacagCaacttatctgcctgcagtag	8	11	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr11:118630742C>G	uc001pub.2	-	8	1114	c.753G>C	c.(751-753)TTG>TTC	p.L251F	DDX6_uc001pua.2_5'Flank|DDX6_uc001puc.2_Missense_Mutation_p.L251F	NM_004397	NP_004388	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6	251	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			ovary(1)	1	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		CCTGTGACAGCAACTTATCTG	0.353			T	IGH@	B-NHL								G	118630742	C	G	118630742	3	3	146	1	0	0	0	0	1	0	0	0	4377	709	25	5	722	5	DDX6	11	118630742	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	1369153	118630742	16375774	270	80825											
CACNA2D4	93589	broad.mit.edu	37	chr12	2019093	2019093	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagggattcattgaattcGtggttcaggtcggcctcctc	11	11	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr12:2019093G>A	uc001qjp.2	-	4	696	c.465C>T	c.(463-465)CAC>CAT	p.H155H	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Silent_p.H155H	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	155	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CATTGAATTCGTGGTTCAGGT	0.547													A	2019093	G	A	2019093	2	1	146	1	0	0	0	0	0	0	0	1	2551	1136	40	1		1	CACNA2D4	12	2019093	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08		2019093	131832802	271	80826											
GPRC5D	55507	broad.mit.edu	37	chr12	13103126	13103126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggacactcaggaggaagaGgagctgggtggggaggacat	19	6	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr12:13103126G>A	uc010shp.1	-	1	193	c.193C>T	c.(193-195)CTC>TTC	p.L65F		NM_018654	NP_061124	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, family C, group 5,	65	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		AGGAGGAAGAGGAGCTGGGTG	0.522													A	13103126	G	A	13103126	3	1	146	1	0	0	0	0	1	0	0	0	6727	1000	35	4	854	4	GPRC5D	12	13103126	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	11084033	13103126	120748769	272	80827											
CNTN1	1272	broad.mit.edu	37	chr12	41410613	41410613	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccgatatgtccataaagatGaaaccatgagcccttccact	7	12	0	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr12:41410613G>A	uc001rmm.1	+	19	2427	c.2314G>A	c.(2314-2316)GAA>AAA	p.E772K	CNTN1_uc001rmn.1_Missense_Mutation_p.E761K	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	772	Fibronectin type-III 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CCATAAAGATGAAACCATGAG	0.398													A	41410613	G	A	41410613	3	1	146	1	0	0	0	0	1	0	0	0	3640	1291	45	4	2384	4	CNTN1	12	41410613	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	28307487	41410613	92441282	273	80828											
GXYLT1	283464	broad.mit.edu	37	chr12	42491366	42491366	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaattgcttccatataTacaatgatctggtcgataat	7	7	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr12:42491366T>A	uc001rms.3	-	7	1264	c.1039A>T	c.(1039-1041)ATA>TTA	p.I347L	GXYLT1_uc001rmt.3_Missense_Mutation_p.I316L	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	glycosyltransferase 8 domain containing 3	347	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0						CTTCCATATATACAATGATCT	0.383													A	42491366	T	A	42491366	3	1	146	1	0	0	0	0	1	0	0	0	6903	1406	49	5	291	5	GXYLT1	12	42491366	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	1080753	42491366	91360529	274	80829											
KRT83	3889	broad.mit.edu	37	chr12	52714937	52714937	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctgcgtccgcaggagccGgcgcggaagcccccgcacac	14	17	0	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr12:52714937G>A	uc001saf.2	-	1	246	c.183C>T	c.(181-183)GCC>GCT	p.A61A		NM_002282	NP_002273	P78385	KRT83_HUMAN	keratin 83	61	Head.				epidermis development	keratin filament	structural molecule activity			skin(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CGCAGGAGCCGGCGCGGAAGC	0.731													A	52714937	G	A	52714937	2	1	146	1	0	0	0	0	0	0	0	1	8497	1103	39	1		1	KRT83	12	52714937	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	10223571	52714937	81136958	275	80830											
OR10P1	121130	broad.mit.edu	37	chr12	56030784	56030784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgcttctggtctacctgGtcaccttgctgggtaactcc	11	12	3	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr12:56030784G>A	uc010spq.1	+	1	109	c.109G>A	c.(109-111)GTC>ATC	p.V37I		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P,	37	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2						GGTCTACCTGGTCACCTTGCT	0.572													A	56030784	G	A	56030784	3	1	146	1	0	0	0	0	1	0	0	0	10915	1261	44	4	111	4	OR10P1	12	56030784	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	3315847	56030784	77821111	276	80831											
PAN2	9924	broad.mit.edu	37	chr12	56718164	56718164	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agaatgaagcgattccacctCtgaatgagcctggccagatt	10	10	1	5			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr12:56718164C>G	uc001skx.2	-	12	2215	c.1842G>C	c.(1840-1842)CAG>CAC	p.Q614H	PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.Q614H|PAN2_uc001sky.2_Missense_Mutation_p.Q614H	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	614					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						GATTCCACCTCTGAATGAGCC	0.527													G	56718164	C	G	56718164	3	3	146	1	0	0	0	0	1	0	0	0	11414	912	32	5	1826	5	PAN2	12	56718164	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	687380	56718164	77133731	277	80832											
PPFIA2	8499	broad.mit.edu	37	chr12	81657147	81657147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttctccaggttgatccaCgtctgaagttcttgtcatca	8	12	5	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr12:81657147C>T	uc001szo.1	-	31	3739	c.3578G>A	c.(3577-3579)CGT>CAT	p.R1193H	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	1092										ovary(3)|lung(2)|pancreas(1)	6						GGTTGATCCACGTCTGAAGTT	0.433													T	81657147	C	T	81657147	3	4	146	1	0	0	0	0	1	0	0	0	12310	536	19	1	203	1	PPFIA2	12	81657147	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	24938983	81657147	52194748	278	80833											
STAB2	55576	broad.mit.edu	37	chr12	104149101	104149101	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccaagtaccacctgtgctcaGcaggctggctggagaccggg	14	13	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr12:104149101G>C	uc001tjw.2	+	62	6922	c.6736G>C	c.(6736-6738)GCA>CCA	p.A2246P	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2246	Extracellular (Potential).|Link.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CCTGTGCTCAGCAGGCTGGCT	0.498													C	104149101	G	C	104149101	3	2	146	1	0	0	0	0	1	0	0	0	15237	971	34	5	6982	5	STAB2	12	104149101	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	22491954	104149101	29702794	279	80834											
POLR3B	55703	broad.mit.edu	37	chr12	106824074	106824074	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aattggtctttaaagagattTaaaatggaccgccagggtgt	11	5	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr12:106824074T>A	uc001tlp.2	+	14	1509	c.1287T>A	c.(1285-1287)TTT>TTA	p.F429L	POLR3B_uc001tlq.2_Missense_Mutation_p.F371L	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	429					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						TAAAGAGATTTAAAATGGACC	0.433													A	106824074	T	A	106824074	3	1	146	1	0	0	0	0	1	0	0	0	12229	1751	61	5	1341	5	POLR3B	12	106824074	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	2674973	106824074	27027821	280	80835											
IQCD	115811	broad.mit.edu	37	chr12	113633586	113633586	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cttggagttgatctcccgctCttcccggatctgcgcaaact	9	14	3	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr12:113633586C>G	uc001tuu.2	-	3	1010	c.838G>C	c.(838-840)GAG>CAG	p.E280Q		NM_138451	NP_612460	Q96DY2	IQCD_HUMAN	IQ motif containing D	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(1)	1						ATCTCCCGCTCTTCCCGGATC	0.597													G	113633586	C	G	113633586	3	3	146	1	0	0	0	0	1	0	0	0	7805	922	32	5	209	5	IQCD	12	113633586	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	6809512	113633586	20218309	281	80836											
MED13L	23389	broad.mit.edu	37	chr12	116429002	116429002	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttacacagggaagagTttggcgattgttagaggaaa	13	6	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr12:116429002T>A	uc001tvw.2	-	17	3812	c.3757A>T	c.(3757-3759)ACT>TCT	p.T1253S		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1253					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CAGGGAAGAGTTTGGCGATTG	0.478													A	116429002	T	A	116429002	3	1	146	1	0	0	0	0	1	0	0	0	9431	1725	60	5	2935	5	MED13L	12	116429002	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	2795416	116429002	17422893	282	80837											
LRRC43	254050	broad.mit.edu	37	chr12	122669241	122669241	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgcagaagacagtttcctgaGagaattggccatccggaacc	11	10	0	4			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr12:122669241G>C	uc009zxm.2	+	2	351	c.326G>C	c.(325-327)AGA>ACA	p.R109T	LRRC43_uc001ubw.3_5'UTR|LRRC43_uc009zxl.1_RNA	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	109											0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		AGTTTCCTGAGAGAATTGGCC	0.602													C	122669241	G	C	122669241	3	2	146	1	0	0	0	0	1	0	0	0	9001	942	33	5	332	5	LRRC43	12	122669241	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	6240239	122669241	11182654	283	80838											
TCTN2	79867	broad.mit.edu	37	chr12	124156631	124156631	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaattccgacgtgtggagtGctgaacaatgagacggaaga	13	8	0	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr12:124156631G>T	uc001ufp.2	+	3	347	c.219G>T	c.(217-219)GTG>GTT	p.V73V	TCTN2_uc009zya.2_Silent_p.V73V	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	tectonic family member 2 isoform 1	73	Extracellular (Potential).				cilium assembly|smoothened signaling pathway	integral to membrane				ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CGTGTGGAGTGCTGAACAATG	0.502													T	124156631	G	T	124156631	2	4	146	1	0	0	0	0	0	0	0	1	15720	1306	46	5		5	TCTN2	12	124156631	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	1487390	124156631	9695264	284	80839											
FAM123A	219287	broad.mit.edu	37	chr13	25743820	25743820	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccggttgctgactctgcgGaccagcactttggaaaccgg	12	14	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr13:25743820G>A	uc001uqb.2	-	1	2038	c.1938C>T	c.(1936-1938)GTC>GTT	p.V646V	FAM123A_uc001uqa.2_Silent_p.V527V|FAM123A_uc001uqc.2_Silent_p.V527V	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	646										ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGACTCTGCGGACCAGCACTT	0.577													A	25743820	G	A	25743820	2	1	146	1	0	0	0	0	0	0	0	1	5422	1161	41	4		4	FAM123A	13	25743820	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08		25743820	89426058	285	80840											
BRCA2	675	broad.mit.edu	37	chr13	32911752	32911752	+	Frame_Shift_Del	DEL	C	C	-													ttgtaaaaatagtcatataaCccctcagatgttattttcca					rs80359379		TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr13:32911751_32911751AC>A	uc001uub.1	+	10	3486	c.3259_3259AC>A	c.(3259-3261)accfs	p.T1087fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1087					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAGTCATATAACCCCTCAGAT	0.318			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			-	32911752	C	-	32911752	7	5	146	1	0	1	0	1	0	0	0	0	1499	507	18	0	3298	0	BRCA2	13	32911752	Frame_Shift_Del	DEL	C	TCGA-CD-8529-01A-11D-2340-08	7167932	32911752	82258126	286	80841											
FREM2	341640	broad.mit.edu	37	chr13	39264430	39264430	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gatgacttgatgttgactttCctcttggaagatccaccttt	8	9	1	4	rs149341036		TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr13:39264430C>G	uc001uwv.2	+	1	3258	c.2949C>G	c.(2947-2949)TTC>TTG	p.F983L		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	983	CSPG 6.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGTTGACTTTCCTCTTGGAAG	0.428													G	39264430	C	G	39264430	3	3	146	1	0	0	0	0	1	0	0	0	6045	854	30	5	2951	5	FREM2	13	39264430	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	6352678	39264430	75905448	287	80842											
PCDH20	64881	broad.mit.edu	37	chr13	61986911	61986911	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacgggttccagttctttcaGataaaccacaccatctatct	5	12	4	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr13:61986911G>T	uc001vid.3	-	2	1685	c.1321C>A	c.(1321-1323)CTG>ATG	p.L441M	PCDH20_uc010thj.1_Missense_Mutation_p.L441M	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	414	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AGTTCTTTCAGATAAACCACA	0.423													T	61986911	G	T	61986911	3	4	146	1	0	0	0	0	1	0	0	0	11515	933	33	5	1538	5	PCDH20	13	61986911	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	22722481	61986911	53182967	288	80843											
PCDH9	5101	broad.mit.edu	37	chr13	67801945	67801945	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctttctgttctctatccaAgttttgctgaacaatcagtt	5	9	4	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr13:67801945A>G	uc001vik.2	-	2	1320	c.628T>C	c.(628-630)TTG>CTG	p.L210L	PCDH9_uc001vil.2_Silent_p.L210L|PCDH9_uc010thl.1_Silent_p.L210L|PCDH9_uc001vin.3_Silent_p.L210L	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	210	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCTCTATCCAAGTTTTGCTGA	0.433													G	67801945	A	G	67801945	2	3	146	1	0	0	0	0	0	0	0	1	11518	69	3	3		3	PCDH9	13	67801945	Silent	SNP	A	TCGA-CD-8529-01A-11D-2340-08	5815034	67801945	47367933	289	80844											
FBXL3	26224	broad.mit.edu	37	chr13	77581361	77581386	+	Frame_Shift_Del	DEL	CTTTTGGTCAGGAATTAGTACTTCTT	CTTTTGGTCAGGAATTAGTACTTCTT	-													tgaatctgctccaaactataCttttggtcaggaattagtac							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr13:77581360_77581385ACTTTTGGTCAGGAATTAGTACTTCTT>A	uc001vkd.3	-	4	1553_1578	c.1182_1207AAGAAGTACTAATTCCTGACCAAAAGT>T	c.(1180-1209)gaagaagtactaattcctgaccaaaagtatfs	p.E394fs		NM_012158	NP_036290	Q9UKT7	FBXL3_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 3 (FBXL3), mRNA.	394					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|regulation of circadian rhythm|rhythmic process	SCF ubiquitin ligase complex|cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TCCAAACTATACTTTTGGTCAGGAATTAGTACTTCTTCCATAATGG	0.438													-	77581386	CTTTTGGTCAGGAATTAGTACTTCTT	-	77581361	7	5	146	1	0	1	0	1	0	0	0	0	5720	564	20	0	84	0	FBXL3	13	77581361	Frame_Shift_Del	DEL	CTTTTGGTCAGGAATTAGTACTTCTT	TCGA-CD-8529-01A-11D-2340-08	9779416	77581361	37588517	290	80845											
MYCBP2	23077	broad.mit.edu	37	chr13	77651284	77651284	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgttgtaaggacactcactTgagacgtaatcagtctgaat	9	7	3	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr13:77651284T>G	uc001vkf.2	-	68	11700	c.11609A>C	c.(11608-11610)CAA>CCA	p.Q3870P	MYCBP2_uc010aev.2_Missense_Mutation_p.Q3274P|MYCBP2_uc001vke.2_Missense_Mutation_p.Q490P	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3870					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GACACTCACTTGAGACGTAAT	0.383													G	77651284	T	G	77651284	3	3	146	1	0	0	0	0	1	0	0	0	10018	1826	63	5	2381	5	MYCBP2	13	77651284	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	69923	77651284	37518594	291	80846											
MYCBP2	23077	broad.mit.edu	37	chr13	77834716	77834716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttataaggtttggattgccGtctgctcttagctttaaaaa	8	6	2	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr13:77834716G>A	uc001vkf.2	-	14	1841	c.1750C>T	c.(1750-1752)CGG>TGG	p.R584W	MYCBP2_uc010aev.2_Translation_Start_Site	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	584	RCC1 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTGGATTGCCGTCTGCTCTTA	0.279													A	77834716	G	A	77834716	3	1	146	1	0	0	0	0	1	0	0	0	10018	1144	40	1	12456	1	MYCBP2	13	77834716	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	183432	77834716	37335162	292	80847											
CLDN10	9071	broad.mit.edu	37	chr13	96086276	96086276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttctttccattgccgaccGcattttactatcttcaaagt	6	11	3	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr13:96086276G>A	uc001vmg.2	+	1	424	c.189G>A	c.(187-189)CCG>CCA	p.P63P	CLDN10_uc010tii.1_Intron	NM_182848	NP_878268	P78369	CLD10_HUMAN	claudin 10 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			ATTGCCGACCGCATTTTACTA	0.488													A	96086276	G	A	96086276	2	1	146	1	0	0	0	0	0	0	0	1	3472	1074	38	1		1	CLDN10	13	96086276	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	18251560	96086276	19083602	293	80848											
TMTC4	84899	broad.mit.edu	37	chr13	101278038	101278038	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattataaaaacaatgcttaCtgtatttgaacagccaaaga	5	6	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr13:101278038C>A	uc001vou.2	-	13	1797	c.1637_splice	c.e13+1	p.Q546_splice	TMTC4_uc001vot.2_Splice_Site_p.Q565_splice|TMTC4_uc010tja.1_Splice_Site_p.Q435_splice|TMTC4_uc001vov.1_Splice_Site_p.Q291_splice|TMTC4_uc001vow.1_Splice_Site_p.Q329_splice	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat							integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACAATGCTTACTGTATTTGAA	0.373													A	101278038	C	A	101278038	5	1	146	1	0	0	0	0	0	0	1	0	16260	579	20	5	611	5	TMTC4	13	101278038	Splice_Site	SNP	C	TCGA-CD-8529-01A-11D-2340-08	5191762	101278038	13891840	294	80849											
COL4A1	1282	broad.mit.edu	37	chr13	110826862	110826862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacctttttctccaggtaGcccaggacttcctaaagaaa	7	12	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr13:110826862G>A	uc001vqw.3	-	39	3459	c.3337C>T	c.(3337-3339)CTA>TTA	p.L1113L	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1113	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCTCCAGGTAGCCCAGGACTT	0.498													A	110826862	G	A	110826862	2	1	146	1	0	0	0	0	0	0	0	1	3689	962	34	2		2	COL4A1	13	110826862	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	9548824	110826862	4343016	295	80850											
OR4K1	79544	broad.mit.edu	37	chr14	20404690	20404690	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaaccccatcatctactctCtgaggaatgaagatgttaaa	7	9	3	4	rs2792147		TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr14:20404690C>A	uc001vwj.1	+	1	865	c.865C>A	c.(865-867)CTG>ATG	p.L289M		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	289	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CATCTACTCTCTGAGGAATGA	0.408													A	20404690	C	A	20404690	3	1	146	1	0	0	0	0	1	0	0	0	11067	912	32	5	867	5	OR4K1	14	20404690	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08		20404690	86944850	296	80851											
OR4K15	81127	broad.mit.edu	37	chr14	20444560	20444560	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttactcagttgacaaagtcCttgctgtattctacaccatc	6	11	2	1	rs145393308		TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr14:20444560C>G	uc010tkx.1	+	1	883	c.883C>G	c.(883-885)CTT>GTT	p.L295V		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	295	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGACAAAGTCCTTGCTGTATT	0.418													G	20444560	C	G	20444560	3	3	146	1	0	0	0	0	1	0	0	0	11070	681	24	5	885	5	OR4K15	14	20444560	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	39870	20444560	86904980	297	80852											
RNASE10	338879	broad.mit.edu	37	chr14	20978867	20978867	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagaagtggtgcaacctggCtggccagaagatcccatcct	11	11	0	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr14:20978867C>A	uc010tlj.1	+	1	237	c.237C>A	c.(235-237)GGC>GGA	p.G79G	RNASE10_uc001vxp.2_Silent_p.G107G	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	79						extracellular region	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		TGCAACCTGGCTGGCCAGAAG	0.532													A	20978867	C	A	20978867	2	1	146	1	0	0	0	0	0	0	0	1	13400	784	28	5		5	RNASE10	14	20978867	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	534307	20978867	86370673	298	80853											
OXA1L	5018	broad.mit.edu	37	chr14	23235817	23235817	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctgatctgcggctacaAttctggcttcatgcccgcct	9	16	3	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr14:23235817A>T	uc001wgn.2	+	1	87	c.87A>T	c.(85-87)CAA>CAT	p.Q29H	OXA1L_uc010tnc.1_Missense_Mutation_p.Q29H|OXA1L_uc001wgo.2_RNA|OXA1L_uc010akc.2_Missense_Mutation_p.Q29H|OXA1L_uc001wgp.2_5'Flank|OXA1L_uc001wgq.2_5'Flank	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	Error:Variant_position_missing_in_Q15070_after_alignment					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)	1	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		TGCGGCTACAATTCTGGCTTC	0.522													T	23235817	A	T	23235817	3	4	146	1	0	0	0	0	1	0	0	0	11328	98	4	5	89	5	OXA1L	14	23235817	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	2256950	23235817	84113723	299	80854											
NFATC4	4776	broad.mit.edu	37	chr14	24843060	24843060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtacaggcagcatcggtGcccatcgagtgctgtgagca	13	11	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr14:24843060G>A	uc001wpc.2	+	5	2040	c.1719G>A	c.(1717-1719)GTG>GTA	p.V573V	NFATC4_uc010tok.1_Silent_p.V636V|NFATC4_uc010tol.1_Silent_p.V636V|NFATC4_uc010alr.2_Silent_p.V636V|NFATC4_uc010als.2_Silent_p.V586V|NFATC4_uc010tom.1_Silent_p.V586V|NFATC4_uc010ton.1_Silent_p.V586V|NFATC4_uc010too.1_Silent_p.V586V|NFATC4_uc010alt.2_Silent_p.V605V|NFATC4_uc010top.1_Silent_p.V605V|NFATC4_uc010toq.1_Silent_p.V605V|NFATC4_uc010alu.2_Silent_p.V265V|NFATC4_uc010tor.1_Silent_p.V573V|NFATC4_uc010tos.1_Silent_p.V503V|NFATC4_uc010tot.1_Silent_p.V561V|NFATC4_uc010tou.1_Silent_p.V503V|NFATC4_uc010tov.1_Silent_p.V561V|NFATC4_uc010tow.1_Silent_p.V503V|NFATC4_uc010alv.2_Silent_p.V561V|NFATC4_uc010tox.1_Silent_p.V503V|NFATC4_uc001wpd.2_Silent_p.V108V|NFATC4_uc010toy.1_Silent_p.V108V|NFATC4_uc010toz.1_Silent_p.V108V|NFATC4_uc010tpa.1_5'UTR|NFATC4_uc010tpb.1_5'UTR	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	573	RHD.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		CAGCATCGGTGCCCATCGAGT	0.592													A	24843060	G	A	24843060	2	1	146	1	0	0	0	0	0	0	0	1	10365	1306	46	2		2	NFATC4	14	24843060	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	1607243	24843060	82506480	300	80855											
ARHGAP5	394	broad.mit.edu	37	chr14	32560468	32560468	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaaacctgtaataatagcagCaactaaatgtgatgaatgcg	8	6	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr14:32560468C>G	uc001wrl.2	+	2	832	c.593C>G	c.(592-594)GCA>GGA	p.A198G	ARHGAP5_uc001wrm.2_Missense_Mutation_p.A198G|ARHGAP5_uc001wrn.2_Missense_Mutation_p.A198G|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	198					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATAATAGCAGCAACTAAATGT	0.328													G	32560468	C	G	32560468	3	3	146	1	0	0	0	0	1	0	0	0	886	710	25	5	595	5	ARHGAP5	14	32560468	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	7717408	32560468	74789072	301	80856											
PSMA6	5687	broad.mit.edu	37	chr14	35782239	35782239	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaaaagtgaagaagaaatttGattggacatttgaacagaca	9	3	0	6			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr14:35782239G>C	uc001wtd.2	+	5	671	c.562G>C	c.(562-564)GAT>CAT	p.D188H	KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Missense_Mutation_p.D109H|PSMA6_uc010tpu.1_Missense_Mutation_p.D109H	NM_002791	NP_002782	P60900	PSA6_HUMAN	proteasome alpha 6 subunit	188					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity				0	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		GAAGAAATTTGATTGGACATT	0.373													C	35782239	G	C	35782239	3	2	146	1	0	0	0	0	1	0	0	0	12671	1290	45	5	580	5	PSMA6	14	35782239	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	3221771	35782239	71567301	302	80857											
SEC23A	10484	broad.mit.edu	37	chr14	39510066	39510066	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	actcaggcatatcctggtatCctgacttccgccactgtgct	8	14	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr14:39510066C>G	uc001wup.1	-	18	2235	c.2012G>C	c.(2011-2013)GGA>GCA	p.G671A	SEC23A_uc010tqa.1_Missense_Mutation_p.G557A|SEC23A_uc010tqb.1_Missense_Mutation_p.G642A	NM_006364	NP_006355	Q15436	SC23A_HUMAN	SEC23-related protein A	671					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		ATCCTGGTATCCTGACTTCCG	0.388													G	39510066	C	G	39510066	3	3	146	1	0	0	0	0	1	0	0	0	13991	855	30	5	297	5	SEC23A	14	39510066	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	3727827	39510066	67839474	303	80858											
PPIL5	122769	broad.mit.edu	37	chr14	50074222	50074222	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcacaccagtgaagacttcAgaatttgaaaactttaaaac	5	9	2	4			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr14:50074222A>G	uc001wwn.2	+	3	711	c.387A>G	c.(385-387)TCA>TCG	p.S129S	SDCCAG1_uc010anj.1_Intron|PPIL5_uc001wwo.2_Intron|PPIL5_uc010ank.2_Silent_p.S70S|PPIL5_uc001wwp.2_RNA	NM_152329	NP_689542	Q96L50	LLR1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 5	129											0	all_epithelial(31;0.0021)|Breast(41;0.0124)					TGAAGACTTCAGAATTTGAAA	0.358													G	50074222	A	G	50074222	2	3	146	1	0	0	0	0	0	0	0	1	12330	175	7	3		3	PPIL5	14	50074222	Silent	SNP	A	TCGA-CD-8529-01A-11D-2340-08	10564156	50074222	57275318	304	80859											
NAA30	122830	broad.mit.edu	37	chr14	57858401	57858401	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccgaaccctactccatttaTacctatagatattttatcca	2	12	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr14:57858401T>A	uc001xcx.3	+	2	880	c.726T>A	c.(724-726)TAT>TAA	p.Y242*	NAA30_uc010trk.1_Intron|NAA30_uc010aow.2_Intron	NM_001011713	NP_001011713	Q147X3	NAA30_HUMAN	N-acetyltransferase 12	242	N-acetyltransferase.					cytoplasm	peptide alpha-N-acetyltransferase activity			skin(1)	1						ACTCCATTTATACCTATAGAT	0.453													A	57858401	T	A	57858401	4	1	146	1	0	0	0	0	0	1	0	0	10122	1413	49	5	728	5	NAA30	14	57858401	Nonsense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	7784179	57858401	49491139	305	80860											
ZFYVE26	23503	broad.mit.edu	37	chr14	68234421	68234421	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgcattttattgctattacCtgctcatagtaaaattcact	4	8	2	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr14:68234421C>A	uc001xka.2	-	31	5929	c.5790G>T	c.(5788-5790)CAG>CAT	p.Q1930H	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.Q1930H	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1930					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TTGCTATTACCTGCTCATAGT	0.418													A	68234421	C	A	68234421	3	1	146	1	0	0	0	0	1	0	0	0	17665	695	24	5	1877	5	ZFYVE26	14	68234421	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	10376020	68234421	39115119	306	80861											
ADAM21	8747	broad.mit.edu	37	chr14	70925356	70925356	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattcaccaattgcagttaCgctgattttatgaagaccac	6	9	1	3	rs145696569		TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr14:70925356C>T	uc001xmd.2	+	1	1140	c.1140C>T	c.(1138-1140)TAC>TAT	p.Y380Y		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	380	Peptidase M12B.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATTGCAGTTACGCTGATTTTA	0.423													T	70925356	C	T	70925356	2	4	146	1	0	0	0	0	0	0	0	1	243	547	19	1		1	ADAM21	14	70925356	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	2690935	70925356	36424184	307	80862											
RBM25	58517	broad.mit.edu	37	chr14	73544115	73544115	+	Missense_Mutation	SNP	G	G	C													tctatggttggaaagcatttGggcgcaagaaaggatcatcc							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr14:73544115G>C	uc001xno.2	+	4	403	c.195G>C	c.(193-195)TTG>TTC	p.L65F	RBM25_uc001xnn.3_Missense_Mutation_p.L65F|RBM25_uc010ttu.1_Missense_Mutation_p.L65F|RBM25_uc001xnp.2_5'UTR	NM_021239	NP_067062	P49756	RBM25_HUMAN	RNA binding motif protein 25	65					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GAAAGCATTTGGGCGCAAGAA	0.373													C	73544115	G	C	73544115	3	2	146	1	0	0	0	0	1	0	0	0	13125	1339	47	5	205	5	RBM25	14	73544115	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	2618759	73544115	33805425	308	80863	400	2									
RBM25	58517	broad.mit.edu	37	chr14	73544125	73544125	+	Missense_Mutation	SNP	A	A	C													gaaagcatttgggcgcaagaAaggatcatccaggcttaaag							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr14:73544125A>C	uc001xno.2	+	4	413	c.205A>C	c.(205-207)AAG>CAG	p.K69Q	RBM25_uc001xnn.3_Missense_Mutation_p.K69Q|RBM25_uc010ttu.1_Missense_Mutation_p.K69Q|RBM25_uc001xnp.2_5'UTR	NM_021239	NP_067062	P49756	RBM25_HUMAN	RNA binding motif protein 25	69					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GGGCGCAAGAAAGGATCATCC	0.388													C	73544125	A	C	73544125	3	2	146	1	0	0	0	0	1	0	0	0	13125	15	1	5	215	5	RBM25	14	73544125	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	10	73544125	33805415	309	80864	400	2									
ZNF410	57862	broad.mit.edu	37	chr14	74388851	74388851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctatgaattcccagcccagCcttggtggagagtccttgaa	10	11	1	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr14:74388851C>T	uc001xoz.1	+	10	1394	c.1212C>T	c.(1210-1212)AGC>AGT	p.S404S	ZNF410_uc001xoy.1_RNA|ZNF410_uc010tuf.1_Intron|ZNF410_uc010tug.1_Silent_p.S135S|ZNF410_uc010tuh.1_Silent_p.S331S|ZNF410_uc010tui.1_RNA|ZNF410_uc010arz.1_Silent_p.S421S|ZNF410_uc001xpa.1_Silent_p.S208S|ZNF410_uc001xpb.1_Intron|ZNF410_uc001xpc.1_Silent_p.S351S|ZNF410_uc010tuj.1_Silent_p.S208S	NM_021188	NP_067011	Q86VK4	ZN410_HUMAN	zinc finger protein 410	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00369)		CCCAGCCCAGCCTTGGTGGAG	0.463													T	74388851	C	T	74388851	2	4	146	1	0	0	0	0	0	0	0	1	17887	738	26	2		2	ZNF410	14	74388851	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	844726	74388851	32960689	310	80865											
TTLL5	23093	broad.mit.edu	37	chr14	76249678	76249678	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctatccccagcatgcctcacCagccaacaattttactgaac	4	16	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr14:76249678C>G	uc001xrx.2	+	26	2996	c.2791C>G	c.(2791-2793)CAG>GAG	p.Q931E	TTLL5_uc010ask.1_Missense_Mutation_p.Q945E|TTLL5_uc001xrz.2_Missense_Mutation_p.Q506E|TTLL5_uc001xsa.2_Missense_Mutation_p.Q4E|TTLL5_uc001xry.1_RNA	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	931					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		CATGCCTCACCAGCCAACAAT	0.532													G	76249678	C	G	76249678	3	3	146	1	0	0	0	0	1	0	0	0	16727	595	21	5	2889	5	TTLL5	14	76249678	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	1860827	76249678	31099862	311	80866											
KCNK10	54207	broad.mit.edu	37	chr14	88729835	88729835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggagtcggagccggagccGggggttgcccgttagtggcg	20	9	0	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr14:88729835G>A	uc001xwo.2	-	2	555	c.98C>T	c.(97-99)CCG>CTG	p.P33L	KCNK10_uc001xwm.2_Missense_Mutation_p.P38L|KCNK10_uc001xwn.2_Missense_Mutation_p.P38L	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	33	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						AGCCGGAGCCGGGGGTTGCCC	0.647													A	88729835	G	A	88729835	3	1	146	1	0	0	0	0	1	0	0	0	8059	1116	39	1	1542	1	KCNK10	14	88729835	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	12480157	88729835	18619705	312	80867											
ZC3H14	79882	broad.mit.edu	37	chr14	89076102	89076102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagtcagctctgccgttaCttccctgcttgtaagaagat	9	10	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr14:89076102C>T	uc001xww.2	+	15	2277	c.2052C>T	c.(2050-2052)TAC>TAT	p.Y684Y	ZC3H14_uc010twd.1_Silent_p.Y683Y|ZC3H14_uc010twe.1_Silent_p.Y678Y|ZC3H14_uc001xwx.2_Silent_p.Y527Y|ZC3H14_uc010twf.1_Silent_p.Y397Y|ZC3H14_uc001xwy.2_Silent_p.Y519Y|ZC3H14_uc010twg.1_Silent_p.Y373Y|ZC3H14_uc001xxa.2_Silent_p.Y229Y|ZC3H14_uc001xxc.2_Silent_p.Y228Y|ZC3H14_uc001xxb.2_Silent_p.Y254Y	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14 isoform 1	684	C3H1-type 4.					cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			ovary(2)|skin(1)	3						TCTGCCGTTACTTCCCTGCTT	0.393													T	89076102	C	T	89076102	2	4	146	1	0	0	0	0	0	0	0	1	17563	576	20	4		4	ZC3H14	14	89076102	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	346267	89076102	18273438	313	80868											
TDP1	55775	broad.mit.edu	37	chr14	90429519	90429519	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtagtgatgaaagtgaggaaGaaaagccaaaaccagacaag	12	5	0	5			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr14:90429519G>C	uc001xxy.2	+	3	360	c.61G>C	c.(61-63)GAA>CAA	p.E21Q	TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.E21Q|TDP1_uc010atn.2_Missense_Mutation_p.E21Q|TDP1_uc001xya.2_5'UTR|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.E21Q|TDP1_uc001xyc.1_Missense_Mutation_p.E21Q	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	21					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		AAGTGAGGAAGAAAAGCCAAA	0.478								Repair_of_DNA-protein_crosslinks					C	90429519	G	C	90429519	3	2	146	1	0	0	0	0	1	0	0	0	15725	943	33	5	63	5	TDP1	14	90429519	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	1353417	90429519	16920021	314	80869											
KIAA1409	57578	broad.mit.edu	37	chr14	94044294	94044294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctttgcgtagtccgtttcGtagccctttcaagaattttg	8	10	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr14:94044294G>A	uc001ybv.1	+	15	1870	c.1787G>A	c.(1786-1788)CGT>CAT	p.R596H	KIAA1409_uc001ybs.1_Missense_Mutation_p.R596H	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	773						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		AGTCCGTTTCGTAGCCCTTTC	0.433													A	94044294	G	A	94044294	3	1	146	1	0	0	0	0	1	0	0	0	8230	1145	40	1	1845	1	KIAA1409	14	94044294	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	3614775	94044294	13305246	315	80870											
KIAA1409	57578	broad.mit.edu	37	chr14	94088842	94088842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctccttcagaagtcgtttGctctccccgagatgtcgctg	9	14	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr14:94088842G>A	uc001ybv.1	+	28	4881	c.4798G>A	c.(4798-4800)GCT>ACT	p.A1600T	KIAA1409_uc001ybs.1_Missense_Mutation_p.A1578T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1755						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		GAAGTCGTTTGCTCTCCCCGA	0.592													A	94088842	G	A	94088842	3	1	146	1	0	0	0	0	1	0	0	0	8230	1319	46	2	4838	2	KIAA1409	14	94088842	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	44548	94088842	13260698	316	80871											
DYNC1H1	1778	broad.mit.edu	37	chr14	102493538	102493538	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgtcaacctcaaggccacttGcttctgattggtgttagtgg	11	10	3	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr14:102493538G>C	uc001yks.2	+	45	8963	c.8799G>C	c.(8797-8799)TTG>TTC	p.L2933F		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2933	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						AAGGCCACTTGCTTCTGATTG	0.448													C	102493538	G	C	102493538	3	2	146	1	0	0	0	0	1	0	0	0	4841	1310	46	5	8977	5	DYNC1H1	14	102493538	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	8404696	102493538	4856002	317	80872											
DYNC1H1	1778	broad.mit.edu	37	chr14	102510823	102510823	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacattcaaatgccagatggCatcaggtatgctgctgcctg	11	10	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr14:102510823C>A	uc001yks.2	+	71	13061	c.12897C>A	c.(12895-12897)GGC>GGA	p.G4299G		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	4299					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TGCCAGATGGCATCAGGTATG	0.517													A	102510823	C	A	102510823	2	1	146	1	0	0	0	0	0	0	0	1	4841	697	25	5		5	DYNC1H1	14	102510823	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	17285	102510823	4838717	318	80873											
AHNAK2	113146	broad.mit.edu	37	chr14	105416425	105416425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgacgtccacctccacgCtgggcagagacacctccacg	9	19	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr14:105416425C>T	uc010axc.1	-	7	5483	c.5363G>A	c.(5362-5364)AGC>AAC	p.S1788N	AHNAK2_uc001ypx.2_Missense_Mutation_p.S1688N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1788						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)			CACCTCCACGCTGGGCAGAGA	0.662													T	105416425	C	T	105416425	3	4	146	1	0	0	0	0	1	0	0	0	415	797	28	2	12028	2	AHNAK2	14	105416425	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	2905602	105416425	1933115	319	80874											
MKRN3	7681	broad.mit.edu	37	chr15	23811185	23811185	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaggaggagcctggcccagtCcgttgccaagccgaagcagc	15	13	0	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr15:23811185C>A	uc001ywh.3	+	1	732	c.256C>A	c.(256-258)CCG>ACG	p.P86T	MKRN3_uc001ywi.2_Missense_Mutation_p.P86T|MKRN3_uc010ayi.1_Missense_Mutation_p.P86T	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	86						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.P86P(1)		lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTGGCCCAGTCCGTTGCCAAG	0.617													A	23811185	C	A	23811185	3	1	146	1	0	0	0	0	1	0	0	0	9608	855	30	5	258	5	MKRN3	15	23811185	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08		23811185	78720207	320	80875											
HERC2	8924	broad.mit.edu	37	chr15	28358272	28358272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcctgggcagcctcgtcCggccccagacgaagcgaagg	15	14	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr15:28358272C>T	uc001zbj.2	-	92	14283	c.14177G>A	c.(14176-14178)CGG>CAG	p.R4726Q	HERC2_uc001zbi.2_Missense_Mutation_p.R415Q	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4726	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGCCTCGTCCGGCCCCAGAC	0.647													T	28358272	C	T	28358272	3	4	146	1	0	0	0	0	1	0	0	0	7058	652	23	1	335	1	HERC2	15	28358272	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	4547087	28358272	74173120	321	80876											
HERC2	8924	broad.mit.edu	37	chr15	28515891	28515891	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggcatacagggcgtagccaGacggtctaaatgggccatga	14	9	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr15:28515891G>C	uc001zbj.2	-	10	1313	c.1207C>G	c.(1207-1209)CTG>GTG	p.L403V	HERC2_uc001zbl.1_Missense_Mutation_p.L98V	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	403					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGCGTAGCCAGACGGTCTAAA	0.512													C	28515891	G	C	28515891	3	2	146	1	0	0	0	0	1	0	0	0	7058	933	33	5	13633	5	HERC2	15	28515891	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	157619	28515891	74015501	322	80877											
PLA2G4D	283748	broad.mit.edu	37	chr15	42374530	42374530	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaatggtcaagggcctcaGgggcacagtgaggtacccag	14	12	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr15:42374530G>A	uc001zox.2	-	9	825	c.730C>T	c.(730-732)CTG>TTG	p.L244L		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD	244					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			large_intestine(1)|skin(1)	2		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		AAGGGCCTCAGGGGCACAGTG	0.443													A	42374530	G	A	42374530	2	1	146	1	0	0	0	0	0	0	0	1	12004	991	35	4		4	PLA2G4D	15	42374530	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	13858639	42374530	60156862	323	80878											
SPPL2A	84888	broad.mit.edu	37	chr15	51031977	51031977	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaagttaaatattcttccttCtttttcctcatttctctatc	1	10	4	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr15:51031977C>G	uc001zyv.2	-	6	813	c.633G>C	c.(631-633)AAG>AAC	p.K211N		NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN	signal peptide peptidase-like 2A	211						integral to membrane	aspartic-type endopeptidase activity				0				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		ATTCTTCCTTCTTTTTCCTCA	0.338													G	51031977	C	G	51031977	3	3	146	1	0	0	0	0	1	0	0	0	15087	912	32	5	969	5	SPPL2A	15	51031977	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	8657447	51031977	51499415	324	80879											
MTFMT	123263	broad.mit.edu	37	chr15	65319186	65319186	+	Silent	SNP	A	A	G													tactagggaaatttaagaatAagagcctcattcaaaagtcg							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr15:65319186A>G	uc002aof.3	-	2	428	c.402T>C	c.(400-402)CTT>CTC	p.L134L		NM_139242	NP_640335	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	134						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			ovary(2)	2					Tetrahydrofolic acid(DB00116)	ATTTAAGAATAAGAGCCTCAT	0.373													G	65319186	A	G	65319186	2	3	146	1	0	0	0	0	0	0	0	1	9924	349	13	3		3	MTFMT	15	65319186	Silent	SNP	A	TCGA-CD-8529-01A-11D-2340-08	14287209	65319186	37212206	325	80880	401	2									
MTFMT	123263	broad.mit.edu	37	chr15	65319188	65319188	+	Missense_Mutation	SNP	G	G	C													ctagggaaatttaagaataaGagcctcattcaaaagtcggc							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr15:65319188G>C	uc002aof.3	-	2	426	c.400C>G	c.(400-402)CTT>GTT	p.L134V		NM_139242	NP_640335	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	134						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			ovary(2)	2					Tetrahydrofolic acid(DB00116)	TTAAGAATAAGAGCCTCATTC	0.378													C	65319188	G	C	65319188	3	2	146	1	0	0	0	0	1	0	0	0	9924	942	33	5	801	5	MTFMT	15	65319188	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	2	65319188	37212204	326	80881	401	2									
HMG20A	10363	broad.mit.edu	37	chr15	77771634	77771636	+	In_Frame_Del	DEL	GTT	GTT	-													tcatagctacagttcgagaaGttgtgaacagactcgatcgt							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr15:77771633_77771635AGTT>A	uc002bcr.3	+	9	1221_1223	c.1020_1022AGTT>A	c.(1018-1023)gaagtt>gaAt	p.V342del	HMG20A_uc002bcs.3_In_Frame_Del_p.V342del|HMG20A_uc021sra.1_5'Flank	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN	Homo sapiens high mobility group 20A (HMG20A), mRNA.	342					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CAGTTCGAGAAGTTGTGAACAGA	0.374													-	77771636	GTT	-	77771634	7	5	146	1	0	1	0	1	0	0	0	0	7221	1029	36	0	1051	0	HMG20A	15	77771634	In_Frame_Del	DEL	GTT	TCGA-CD-8529-01A-11D-2340-08	12452446	77771634	24759758	327	80882											
POLG	5428	broad.mit.edu	37	chr15	89868908	89868908	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctagccgggggcagagcttCcggtaccatctacgtcccag	12	14	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr15:89868908C>A	uc002bns.3	-	10	2004	c.1722G>T	c.(1720-1722)CGG>CGT	p.R574R	POLG_uc002bnr.3_Silent_p.R574R	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	574			R -> W (in PEOB; sporadic case).		base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGCAGAGCTTCCGGTACCATC	0.612								DNA_polymerases_(catalytic_subunits)					A	89868908	C	A	89868908	2	1	146	1	0	0	0	0	0	0	0	1	12200	842	30	5		5	POLG	15	89868908	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	12097274	89868908	12662484	328	80883											
FURIN	5045	broad.mit.edu	37	chr15	91424172	91424172	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaacagggacgctgaccaAgttcaccctcgtactctatg	10	12	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr15:91424172A>C	uc002bpu.1	+	15	1910	c.1694A>C	c.(1693-1695)AAG>ACG	p.K565T		NM_002569	NP_002560	P09958	FURIN_HUMAN	furin preproprotein	565	Cys-rich.				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			central_nervous_system(4)|lung(2)|breast(1)	7	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			ACGCTGACCAAGTTCACCCTC	0.622													C	91424172	A	C	91424172	3	2	146	1	0	0	0	0	1	0	0	0	6099	72	3	5	1748	5	FURIN	15	91424172	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	1555264	91424172	11107220	329	80884											
HDDC3	374659	broad.mit.edu	37	chr15	91475027	91475027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctactgtggggcgcttgctCcacctgcagcctctttctct	10	15	2	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr15:91475027C>T	uc002bqf.3	-	3	320	c.316G>A	c.(316-318)GAG>AAG	p.E106K	UNC45A_uc002bqd.2_Intron|HDDC3_uc002bqe.3_Missense_Mutation_p.E106K	NM_198527	NP_940929	Q8N4P3	MESH1_HUMAN	HD domain containing 3	106	HD.						guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity|metal ion binding|phosphoric diester hydrolase activity			ovary(1)	1	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGCGCTTGCTCCACCTGCAGC	0.597											OREG0023475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	91475027	C	T	91475027	3	4	146	1	0	0	0	0	1	0	0	0	7017	864	30	4	114	4	HDDC3	15	91475027	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	50855	91475027	11056365	330	80885											
PDIA2	64714	broad.mit.edu	37	chr16	334997	334998	+	Frame_Shift_Del	DEL	TG	TG	-													tttggcctcaccaaggacacTgtggttctcttcaagaaggt							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:334996_334997CTG>C	uc002cgn.1	+	8	1767_1768	c.659_660CTG>C	c.(658-660)actfs	p.T220fs	LUC7L_uc021szo.1_Intron|PDIA2_uc002cgo.1_Frame_Shift_Del_p.T220fs|PDIA2_uc010bqt.1_Frame_Shift_Del_p.T65fs	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	Homo sapiens protein disulfide isomerase family A, member 2 (PDIA2), mRNA.	220					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				ACCAAGGACACTGTGGTTCTCT	0.629													-	334998	TG	-	334997	7	5	146	1	0	1	0	1	0	0	0	0	11668	1567	55	0	674	0	PDIA2	16	334997	Frame_Shift_Del	DEL	TG	TCGA-CD-8529-01A-11D-2340-08		334997	90019756	331	80886											
PIGQ	9091	broad.mit.edu	37	chr16	629087	629087	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggctgtactgcctgaagatCcatggcctgtcctcactgtg	11	12	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:629087C>T	uc002cho.2	+	7	1344	c.1242C>T	c.(1240-1242)ATC>ATT	p.I414I	PIGQ_uc010bqw.2_Silent_p.I414I|PIGQ_uc002chn.2_Silent_p.I414I|PIGQ_uc010uui.1_Silent_p.I428I|PIGQ_uc002chp.2_5'Flank	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	414	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)	1		Hepatocellular(780;0.00335)				GCCTGAAGATCCATGGCCTGT	0.512													T	629087	C	T	629087	2	4	146	1	0	0	0	0	0	0	0	1	11896	845	30	4		4	PIGQ	16	629087	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	294090	629087	89725666	332	80887											
STUB1	10273	broad.mit.edu	37	chr16	731803	731803	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caacccccagggagctggaaGagtgccagcgaaaccacgag	13	13	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:731803G>C	uc002cit.2	+	4	946	c.535G>C	c.(535-537)GAG>CAG	p.E179Q	STUB1_uc002ciu.2_Missense_Mutation_p.E107Q|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002cix.1_3'UTR|JMJD8_uc002ciy.1_3'UTR	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1	179					cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity				0		Hepatocellular(780;0.00335)				GGAGCTGGAAGAGTGCCAGCG	0.627													C	731803	G	C	731803	3	2	146	1	0	0	0	0	1	0	0	0	15334	943	33	5	549	5	STUB1	16	731803	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	102716	731803	89622950	333	80888											
NAT15	79903	broad.mit.edu	37	chr16	3533413	3533413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatatcaaccaccgcccagGaccactgcaaagccatttac	5	16	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:3533413G>A	uc002cvh.3	+	6	634	c.388G>A	c.(388-390)GAC>AAC	p.D130N	NAT15_uc010uxb.1_Missense_Mutation_p.D137N|NAT15_uc010btk.1_Missense_Mutation_p.D65N|NAT15_uc010btl.2_Intron|NAT15_uc010btm.2_Missense_Mutation_p.D130N|NAT15_uc010uxc.1_Missense_Mutation_p.D130N|NAT15_uc010uxd.1_Intron|NAT15_uc010uxe.1_Intron|NAT15_uc002cvg.1_Missense_Mutation_p.D130N	NM_001083601	NP_001077070	Q9H7X0	NAT15_HUMAN	N-acetyltransferase 15	130	N-acetyltransferase.						N-acetyltransferase activity				0						CACCGCCCAGGACCACTGCAA	0.463													A	3533413	G	A	3533413	3	1	146	1	0	0	0	0	1	0	0	0	10176	1174	41	4	402	4	NAT15	16	3533413	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	2801610	3533413	86821340	334	80889											
GRIN2A	2903	broad.mit.edu	37	chr16	9892258	9892258	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgatggtcaccagcttgcaGccttcatccctcccagcctt	7	18	2	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:9892258G>A	uc002czo.3	-	11	2780	c.2232C>T	c.(2230-2232)GGC>GGT	p.G744G	GRIN2A_uc010uym.1_Silent_p.G744G|GRIN2A_uc010uyn.1_Silent_p.G587G|GRIN2A_uc002czr.3_Silent_p.G744G	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	744	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCAGCTTGCAGCCTTCATCCC	0.542													A	9892258	G	A	9892258	2	1	146	1	0	0	0	0	0	0	0	1	6779	958	34	2		2	GRIN2A	16	9892258	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	6358845	9892258	80462495	335	80890											
PDXDC1	23042	broad.mit.edu	37	chr16	15098145	15098145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagctgagaaaacttacaaCtaggatactttcagatacca	7	8	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:15098145C>T	uc002dda.3	+	5	568	c.344C>T	c.(343-345)ACT>ATT	p.T115I	PDXDC1_uc010uzl.1_Missense_Mutation_p.T100I|PDXDC1_uc010uzm.1_Intron|PDXDC1_uc010bvc.1_Missense_Mutation_p.T56I|PDXDC1_uc002dcz.2_Missense_Mutation_p.T115I|PDXDC1_uc002ddb.3_Missense_Mutation_p.T88I|PDXDC1_uc010uzn.1_Missense_Mutation_p.T87I|PDXDC1_uc002ddc.2_Missense_Mutation_p.T115I	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain	115					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	AAACTTACAACTAGGATACTT	0.388													T	15098145	C	T	15098145	3	4	146	1	0	0	0	0	1	0	0	0	11696	565	20	4	362	4	PDXDC1	16	15098145	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	5205887	15098145	75256608	336	80891											
TMC5	79838	broad.mit.edu	37	chr16	19477458	19477458	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttacaccaattccaccatcCagcacgggaacagcggggca	9	14	0	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:19477458C>A	uc002dgc.3	+	9	2289	c.1540C>A	c.(1540-1542)CAG>AAG	p.Q514K	TMC5_uc010vaq.1_Missense_Mutation_p.Q514K|TMC5_uc002dgb.3_Missense_Mutation_p.Q514K|TMC5_uc010var.1_Missense_Mutation_p.Q514K|TMC5_uc002dgd.1_Missense_Mutation_p.Q268K|TMC5_uc002dge.3_Missense_Mutation_p.Q268K|TMC5_uc002dgf.3_Missense_Mutation_p.Q197K|TMC5_uc002dgg.3_Missense_Mutation_p.Q155K	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	514	Extracellular (Potential).					integral to membrane				skin(1)	1						TTCCACCATCCAGCACGGGAA	0.468													A	19477458	C	A	19477458	3	1	146	1	0	0	0	0	1	0	0	0	15985	595	21	5	1880	5	TMC5	16	19477458	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	4379313	19477458	70877295	337	80892											
DNAH3	55567	broad.mit.edu	37	chr16	20970669	20970669	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggccttggccttggccaaggGagatggtctgtgttctggta	16	8	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:20970669G>C	uc010vbe.1	-	54	10658	c.10658C>G	c.(10657-10659)TCC>TGC	p.S3553C	DNAH3_uc010vbd.1_Missense_Mutation_p.S988C	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3553	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TTGGCCAAGGGAGATGGTCTG	0.532													C	20970669	G	C	20970669	3	2	146	1	0	0	0	0	1	0	0	0	4603	1174	41	5	1727	5	DNAH3	16	20970669	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	1493211	20970669	69384084	338	80893											
DNAH3	55567	broad.mit.edu	37	chr16	20999373	20999373	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatggaaatgatattcagatGgcgagtgaatcgtcctgggg	15	5	1	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:20999373G>C	uc010vbe.1	-	45	6616	c.6616C>G	c.(6616-6618)CAT>GAT	p.H2206D	DNAH3_uc010vbd.1_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2206	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		ATATTCAGATGGCGAGTGAAT	0.438													C	20999373	G	C	20999373	3	2	146	1	0	0	0	0	1	0	0	0	4603	1348	47	5	5805	5	DNAH3	16	20999373	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	28704	20999373	69355380	339	80894											
DNAH3	55567	broad.mit.edu	37	chr16	21042585	21042585	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttgatgatcttgtactccaCagcaaactcctccatctgat	6	12	2	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:21042585C>G	uc010vbe.1	-	37	5221	c.5221G>C	c.(5221-5223)GTG>CTG	p.V1741L		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1741	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TTGTACTCCACAGCAAACTCC	0.493													G	21042585	C	G	21042585	3	3	146	1	0	0	0	0	1	0	0	0	4603	478	17	5	7232	5	DNAH3	16	21042585	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	43212	21042585	69312168	340	80895											
ANKS4B	257629	broad.mit.edu	37	chr16	21261950	21261950	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggaagtgttcttgctgtctCagcacctggaagaattcctg	11	9	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:21261950C>A	uc010bwp.1	+	2	1106	c.1063C>A	c.(1063-1065)CAG>AAG	p.Q355K	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	harmonin-interacting ankyrin-repeat containing	355	SAM.									ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0565)		CTTGCTGTCTCAGCACCTGGA	0.512													A	21261950	C	A	21261950	3	1	146	1	0	0	0	0	1	0	0	0	691	827	29	5	1069	5	ANKS4B	16	21261950	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	219365	21261950	69092803	341	80896											
KIF22	3835	broad.mit.edu	37	chr16	29816605	29816605	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaacatcctgggtctcgccGccggccagcgctgtggcgcc	13	17	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:29816605G>T	uc002dts.3	+	14	1996	c.1972G>T	c.(1972-1974)GCC>TCC	p.A658S	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Missense_Mutation_p.A590S|KIF22_uc010vdw.1_Missense_Mutation_p.A590S|KIF22_uc010bzf.2_Missense_Mutation_p.A604S|KIF22_uc002dtt.1_3'UTR|KIF22_uc002frc.1_RNA|MAZ_uc002dtv.1_5'Flank|MAZ_uc010vdx.1_5'Flank|MAZ_uc002dtw.2_5'Flank|MAZ_uc002dtx.2_5'Flank|MAZ_uc002dty.2_5'Flank|MAZ_uc010bzg.2_5'Flank|MAZ_uc002dtz.1_5'Flank|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank	NM_007317	NP_015556	Q14807	KIF22_HUMAN	kinesin family member 22	658					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding				0						GGGTCTCGCCGCCGGCCAGCG	0.612													T	29816605	G	T	29816605	3	4	146	1	0	0	0	0	1	0	0	0	8290	1087	38	5	2026	5	KIF22	16	29816605	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	8554655	29816605	60538148	342	80897											
CD2BP2	10421	broad.mit.edu	37	chr16	30364910	30364910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagccggtccaggcgctgaGgggaactgggttgcccaggc	18	11	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:30364910G>A	uc002dxr.2	-	4	840	c.587C>T	c.(586-588)CCT>CTT	p.P196L	CD2BP2_uc002dxs.2_Missense_Mutation_p.P196L	NM_006110	NP_006101	O95400	CD2B2_HUMAN	CD2 antigen (cytoplasmic tail) binding protein	196					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			ovary(1)	1						CAGGCGCTGAGGGGAACTGGG	0.647													A	30364910	G	A	30364910	3	1	146	1	0	0	0	0	1	0	0	0	2995	1000	35	4	450	4	CD2BP2	16	30364910	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	548305	30364910	59989843	343	80898											
BCL7C	9274	broad.mit.edu	37	chr16	30904233	30904233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccgacgttcccggccacGggatctctctgccccgccac	10	21	2	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:30904233G>A	uc002dzv.2	-	3	342	c.208C>T	c.(208-210)CGT>TGT	p.R70C	BCL7C_uc002dzt.1_Missense_Mutation_p.R70C|uc002dzu.2_Intron|MIR762_hsa-mir-762|MI0003892_5'Flank	NM_004765	NP_004756	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	70					apoptosis						0			Colorectal(24;0.198)			TCCCGGCCACGGGATCTCTCT	0.637													A	30904233	G	A	30904233	3	1	146	1	0	0	0	0	1	0	0	0	1380	1116	39	1	461	1	BCL7C	16	30904233	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	539323	30904233	59450520	344	80899											
ITGAX	3687	broad.mit.edu	37	chr16	31382721	31382721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgagatccccaggtctgcGtttgagtgtcgggagcaggt	16	10	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:31382721G>A	uc002ebu.1	+	16	1975	c.1908G>A	c.(1906-1908)GCG>GCA	p.A636A	ITGAX_uc002ebt.2_Silent_p.A636A	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	636	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CCAGGTCTGCGTTTGAGTGTC	0.587													A	31382721	G	A	31382721	2	1	146	1	0	0	0	0	0	0	0	1	7889	1132	40	1		1	ITGAX	16	31382721	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	478488	31382721	58972032	345	80900											
ITGAD	3681	broad.mit.edu	37	chr16	31424270	31424270	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acctggccgtgggggcccggGgccaggtgctcctgctcagg	18	14	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:31424270G>C	uc002ebv.1	+	15	1868	c.1819G>C	c.(1819-1821)GGC>CGC	p.G607R	ITGAD_uc010cap.1_Missense_Mutation_p.G608R	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	607	Extracellular (Potential).|FG-GAP 7.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						GGGGGCCCGGGGCCAGGTGCT	0.667													C	31424270	G	C	31424270	3	2	146	1	0	0	0	0	1	0	0	0	7884	1232	43	5	1877	5	ITGAD	16	31424270	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	41549	31424270	58930483	346	80901											
MYLK3	91807	broad.mit.edu	37	chr16	46746663	46746663	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggagtgccgaagttcaCcttcagcttctctcgaggct	10	13	4	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:46746663C>G	uc002eei.3	-	10	2127	c.2011G>C	c.(2011-2013)GTG>CTG	p.V671L	MYLK3_uc010vge.1_Missense_Mutation_p.V330L	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	671	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CCGAAGTTCACCTTCAGCTTC	0.542													G	46746663	C	G	46746663	3	3	146	1	0	0	0	0	1	0	0	0	10058	507	18	5	464	5	MYLK3	16	46746663	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	15322393	46746663	43608090	347	80902											
ABCC11	85320	broad.mit.edu	37	chr16	48212523	48212523	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccaccttcatgtactgcagTatcctctctacagccgtgaa	6	15	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:48212523T>A	uc002eff.1	-	23	3683	c.3333A>T	c.(3331-3333)ATA>ATT	p.I1111I	ABCC11_uc002efg.1_Silent_p.I1111I|ABCC11_uc002efh.1_Silent_p.I1111I|ABCC11_uc010cbg.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	1111	Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGTACTGCAGTATCCTCTCTA	0.582									Cerumen_Type				A	48212523	T	A	48212523	2	1	146	1	0	0	0	0	0	0	0	1	51	1628	57	5		5	ABCC11	16	48212523	Silent	SNP	T	TCGA-CD-8529-01A-11D-2340-08	1465860	48212523	42142230	348	80903											
CYLD	1540	broad.mit.edu	37	chr16	50813850	50813850	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggaactcacatggtctagaAgtgggctcattggctgaagt	14	7	3	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:50813850A>T	uc002egp.1	+	9	1828	c.1413A>T	c.(1411-1413)GAA>GAT	p.E471D	CYLD_uc002ego.2_Missense_Mutation_p.E468D|CYLD_uc010cbs.1_Missense_Mutation_p.E468D|CYLD_uc002egq.1_Missense_Mutation_p.E468D|CYLD_uc002egr.1_Missense_Mutation_p.E468D|CYLD_uc002egs.1_Missense_Mutation_p.E468D	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	471	Interaction with TRIP.|Interaction with IKBKG/NEMO.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				ATGGTCTAGAAGTGGGCTCAT	0.532			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial				T	50813850	A	T	50813850	3	4	146	1	0	0	0	0	1	0	0	0	4143	69	3	5	1439	5	CYLD	16	50813850	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	2601327	50813850	39540903	349	80904											
FTO	79068	broad.mit.edu	37	chr16	54145683	54145683	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactcttccaggtgccagtcAcgaattgcccgaacattacc	7	14	2	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:54145683A>G	uc002ehr.2	+	9	1596	c.1374A>G	c.(1372-1374)TCA>TCG	p.S458S	FTO_uc010vha.1_Silent_p.S162S|FTO_uc010cbz.2_Silent_p.S59S|FTO_uc002ehs.2_RNA	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	458					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GGTGCCAGTCACGAATTGCCC	0.512													G	54145683	A	G	54145683	2	3	146	1	0	0	0	0	0	0	0	1	6086	146	6	3		3	FTO	16	54145683	Silent	SNP	A	TCGA-CD-8529-01A-11D-2340-08	3331833	54145683	36209070	350	80905											
SLC6A2	6530	broad.mit.edu	37	chr16	55690822	55690822	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctgtccgtagtcggcttCgcagtggacctggccaacgt	13	13	0	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:55690822C>T	uc002eif.2	+	2	327	c.216C>T	c.(214-216)TTC>TTT	p.F72F	SLC6A2_uc010ccd.2_Silent_p.F72F|SLC6A2_uc002eig.2_Silent_p.F72F|SLC6A2_uc002eih.2_Silent_p.F72F	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	72	Helical; Name=1; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TAGTCGGCTTCGCAGTGGACC	0.672													T	55690822	C	T	55690822	2	4	146	1	0	0	0	0	0	0	0	1	14683	883	31	1		1	SLC6A2	16	55690822	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	1545139	55690822	34663931	351	80906											
CNGB1	1258	broad.mit.edu	37	chr16	57931344	57931344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagactcaggataatgcaCcaaaatctcattcaggtcct	7	11	3	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:57931344C>T	uc002emt.2	-	31	3264	c.3199G>A	c.(3199-3201)GTG>ATG	p.V1067M	CNGB1_uc010cdh.2_Missense_Mutation_p.V1061M	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	1067	Cytoplasmic (Potential).|cAMP (By similarity).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						GGATAATGCACCAAAATCTCA	0.463													T	57931344	C	T	57931344	3	4	146	1	0	0	0	0	1	0	0	0	3600	507	18	4	568	4	CNGB1	16	57931344	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	2240522	57931344	32423409	352	80907											
CNOT1	23019	broad.mit.edu	37	chr16	58562514	58562514	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taatcacaaaggaactctggGaaatcatgcaaaagaaccag	8	8	3	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:58562514G>A	uc002env.2	-	44	6611	c.6318C>T	c.(6316-6318)TTC>TTT	p.F2106F	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.F2101F|CNOT1_uc002ent.2_Silent_p.F44F|CNOT1_uc010vik.1_Silent_p.F1063F	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2106					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGAACTCTGGGAAATCATGCA	0.358													A	58562514	G	A	58562514	2	1	146	1	0	0	0	0	0	0	0	1	3617	1165	41	4		4	CNOT1	16	58562514	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	631170	58562514	31792239	353	80908											
CDH16	1014	broad.mit.edu	37	chr16	66948278	66948278	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacctgtaccaacagctgGtaggtcctctccagggcgtg	12	12	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:66948278G>A	uc002eql.2	-	7	694	c.621C>T	c.(619-621)TAC>TAT	p.Y207Y	CDH16_uc010cdy.2_Silent_p.Y207Y|CDH16_uc002eqm.2_Intron	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	207	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCAACAGCTGGTAGGTCCTCT	0.622													A	66948278	G	A	66948278	2	1	146	1	0	0	0	0	0	0	0	1	3101	1256	44	4		4	CDH16	16	66948278	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	8385764	66948278	23406475	354	80909											
LRRC36	55282	broad.mit.edu	37	chr16	67404994	67405013	+	Frame_Shift_Del	DEL	GGACACTGCTGTTGTCTCCT	GGACACTGCTGTTGTCTCCT	-													aaacaggacaactcctctgcGgacactgctgttgtctcctg					rs138358333		TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:67404993_67405012CGGACACTGCTGTTGTCTCCT>C	uc002esv.3	+	8	1361_1380	c.1342_1361CGGACACTGCTGTTGTCTCCT>C	c.(1342-1362)cggacactgctgttgtctcctfs	p.R448fs	LRRC36_uc002esw.3_Non-coding_Transcript|LRRC36_uc010ceh.3_Frame_Shift_Del_p.R180fs|LRRC36_uc002esx.3_Frame_Shift_Del_p.R327fs|LRRC36_uc010vjk.2_Frame_Shift_Del_p.R327fs|LRRC36_uc010vjl.2_5'UTR	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA.	448								p.P454S(2)|p.P454L(2)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		AACTCCTCTGCGGACACTGCTGTTGTCTCCTGGGACTTCA	0.459													-	67405013	GGACACTGCTGTTGTCTCCT	-	67404994	7	5	146	1	0	1	0	1	0	0	0	0	8990	1116	39	0	1405	0	LRRC36	16	67404994	Frame_Shift_Del	DEL	GGACACTGCTGTTGTCTCCT	TCGA-CD-8529-01A-11D-2340-08	456716	67404994	22949759	355	80910											
DUS2L	54920	broad.mit.edu	37	chr16	68100496	68100496	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataccctgagccttgtgaagCggatagagaggactggcatt	13	8	0	3	rs143329208		TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:68100496C>A	uc002evi.2	+	10	660	c.511C>A	c.(511-513)CGG>AGG	p.R171R	DUS2L_uc002evj.2_Silent_p.R171R|DUS2L_uc010vkk.1_Silent_p.R136R|DUS2L_uc010cez.2_Silent_p.R84R	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2-like, SMM1 homolog	171					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		CCTTGTGAAGCGGATAGAGAG	0.542													A	68100496	C	A	68100496	2	1	146	1	0	0	0	0	0	0	0	1	4806	759	27	5		5	DUS2L	16	68100496	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	695502	68100496	22254257	356	80911											
WWP2	11060	broad.mit.edu	37	chr16	69832599	69832599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccagtggtgtccgcaaagCccaaggtgcataatcgtcaa	10	12	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:69832599C>T	uc002exu.1	+	4	174	c.85C>T	c.(85-87)CCC>TCC	p.P29S	WWP2_uc002ext.2_Missense_Mutation_p.P29S|WWP2_uc002exv.1_Missense_Mutation_p.P29S	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	29	C2.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			lung(3)|ovary(1)|breast(1)|skin(1)	6						GTCCGCAAAGCCCAAGGTGCA	0.537											OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	69832599	C	T	69832599	3	4	146	1	0	0	0	0	1	0	0	0	17413	739	26	2	91	2	WWP2	16	69832599	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	1732103	69832599	20522154	357	80912											
MBTPS1	8720	broad.mit.edu	37	chr16	84096981	84097005	+	Frame_Shift_Del	DEL	GGAATCTGATAAAGTCCCAAAATGG	GGAATCTGATAAAGTCCCAAAATGG	-													tccggcctccaccctcagctGgaatctgataaagtcccaaa					rs138967616	byFrequency	TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr16:84096980_84097004TGGAATCTGATAAAGTCCCAAAATGG>T	uc002fhi.3	-	18	2980_3004	c.2478_2502CCATTTTGGGACTTTATCAGATTCCA>A	c.(2476-2502)cccattttgggactttatcagattccafs	p.P826fs	MBTPS1_uc002fhh.3_Frame_Shift_Del_p.P330fs	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	826					cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity	p.P826S(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CACCCTCAGCTGGAATCTGATAAAGTCCCAAAATGGGGACGTTTT	0.462											OREG0023981	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	84097005	GGAATCTGATAAAGTCCCAAAATGG	-	84096981	7	5	146	1	0	1	0	1	0	0	0	0	9361	1348	47	0	677	0	MBTPS1	16	84096981	Frame_Shift_Del	DEL	GGAATCTGATAAAGTCCCAAAATGG	TCGA-CD-8529-01A-11D-2340-08	14264382	84096981	6257772	358	80913											
INPP5K	51763	broad.mit.edu	37	chr17	1416808	1416808	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctccacgagtcattaaagGcagcatcggaaaggaggctt	12	9	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr17:1416808G>T	uc002fsr.2	-	3	589	c.200C>A	c.(199-201)GCC>GAC	p.A67D	INPP5K_uc002fss.2_5'UTR|INPP5K_uc002fsq.2_5'UTR|INPP5K_uc010cjr.2_5'UTR|INPP5K_uc010vql.1_Intron|INPP5K_uc010vqm.1_Missense_Mutation_p.A67D|INPP5K_uc010cjs.2_Intron	NM_016532	NP_057616	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K isoform	67	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding				0						GTCATTAAAGGCAGCATCGGA	0.512													T	1416808	G	T	1416808	3	4	146	1	0	0	0	0	1	0	0	0	7760	1203	42	5	1186	5	INPP5K	17	1416808	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08		1416808	79778402	359	80914											
RAP1GAP2	23108	broad.mit.edu	37	chr17	2901595	2901596	+	Missense_Mutation	DNP	GA	GA	TG													acgccgtttgtcccagacatGatagcctccaatttcttaca							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr17:2901595_2901596GA>TG	uc010ckd.2	+	14	1215_1216	c.1125_1126GA>TG	c.(1123-1128)ATGATA>ATTGTA	p.375_376MI>IV	RAP1GAP2_uc010cke.2_Missense_Mutation_p.360_361MI>IV	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2 isoform 1	375_376	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			ovary(1)	1						TCCCAGACATGATAGCCTCCAA	0.485													TG	2901596	GA	TG	2901595	3	4	146	1	0	0	0	0	1	0	0	0	13038	1290	45	5	1179	5	RAP1GAP2	17	2901595	Missense_Mutation	DNP	GA	TCGA-CD-8529-01A-11D-2340-08	1484787	2901595	78293615	360	80915											
OR1G1	8390	broad.mit.edu	37	chr17	3030266	3030266	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagatcaccagctcattggTgaaggggtctgtgcaggaca	14	8	3	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr17:3030266T>G	uc002fvc.1	-	1	580	c.580A>C	c.(580-582)ACC>CCC	p.T194P		NM_003555	NP_003546	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G,	194	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGCTCATTGGTGAAGGGGTCT	0.493													G	3030266	T	G	3030266	3	3	146	1	0	0	0	0	1	0	0	0	10957	1696	59	5	365	5	OR1G1	17	3030266	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	128671	3030266	78164944	361	80916											
MYH3	4621	broad.mit.edu	37	chr17	10544004	10544004	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggcattcagcactcggtatCtgcattgtagacatggaaat	10	8	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr17:10544004C>A	uc002gmq.1	-	19	2243	c.2166_splice	c.e19-1	p.R722_splice		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,						muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						cactcggtatctgcattgtag	0.164													A	10544004	C	A	10544004	5	1	146	1	0	0	0	0	0	0	1	0	10036	927	32	5	3745	5	MYH3	17	10544004	Splice_Site	SNP	C	TCGA-CD-8529-01A-11D-2340-08	7513738	10544004	70651206	362	80917											
DNAH9	1770	broad.mit.edu	37	chr17	11696840	11696840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcattctcttctcctcagtGgaatgtgtgaaatccacatg	9	10	3	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr17:11696840G>A	uc002gne.2	+	42	8150	c.8082G>A	c.(8080-8082)GTG>GTA	p.V2694V	DNAH9_uc010coo.2_Silent_p.V1988V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2694					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTCCTCAGTGGAATGTGTGA	0.393													A	11696840	G	A	11696840	2	1	146	1	0	0	0	0	0	0	0	1	4608	1335	47	4		4	DNAH9	17	11696840	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	1152836	11696840	69498370	363	80918											
MYOCD	93649	broad.mit.edu	37	chr17	12649277	12649277	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagaaatccaaactcttcttCaacgccactgagcaataccc	4	15	3	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr17:12649277C>A	uc002gnn.2	+	9	1312	c.1013C>A	c.(1012-1014)TCA>TAA	p.S338*	MYOCD_uc002gno.2_Nonsense_Mutation_p.S338*|MYOCD_uc002gnp.1_Nonsense_Mutation_p.S242*|MYOCD_uc002gnq.2_Nonsense_Mutation_p.S57*	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	338					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AACTCTTCTTCAACGCCACTG	0.423													A	12649277	C	A	12649277	4	1	146	1	0	0	0	0	0	1	0	0	10087	838	29	5	1047	5	MYOCD	17	12649277	Nonsense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	952437	12649277	68545933	364	80919											
EVI2B	2124	broad.mit.edu	37	chr17	29632128	29632128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagttgatgttggttgtgtgGatggattatgaacagttatt	13	2	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr17:29632128G>A	uc002hgk.2	-	2	655	c.500C>T	c.(499-501)TCC>TTC	p.S167F	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.S182F	NM_006495	NP_006486	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B precursor	167	Extracellular (Potential).					cytoplasm|integral to plasma membrane				ovary(2)	2		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TGGTTGTGTGGATGGATTATG	0.353													A	29632128	G	A	29632128	3	1	146	1	0	0	0	0	1	0	0	0	5288	1174	41	4	850	4	EVI2B	17	29632128	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	16982851	29632128	51563082	365	80920											
SRCIN1	80725	broad.mit.edu	37	chr17	36717777	36717777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggcccagggaagagctccGaagggggagctccggccgtc	17	13	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr17:36717777G>A	uc002hqd.2	-	7	1847	c.1622C>T	c.(1621-1623)TCG>TTG	p.S541L	SRCIN1_uc002hqf.1_Missense_Mutation_p.S413L|SRCIN1_uc002hqe.2_Missense_Mutation_p.S395L|SRCIN1_uc002hqg.2_5'Flank|SRCIN1_uc002hqh.1_Missense_Mutation_p.S601L	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	413					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						GAAGAGCTCCGAAGGGGGAGC	0.687													A	36717777	G	A	36717777	3	1	146	1	0	0	0	0	1	0	0	0	15135	1059	37	1	1981	1	SRCIN1	17	36717777	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	7085649	36717777	44477433	366	80921											
THRA	7067	broad.mit.edu	37	chr17	38233842	38233842	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttatcactaccgctgtaTcacttgtgagggctgcaagg	12	9	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr17:38233842T>C	uc002htw.2	+	4	686	c.203T>C	c.(202-204)ATC>ACC	p.I68T	THRA_uc010cwp.1_Missense_Mutation_p.I68T|THRA_uc002htv.2_Missense_Mutation_p.I68T|THRA_uc002htx.2_Missense_Mutation_p.I68T	NM_003250	NP_003241	P10827	THA_HUMAN	thyroid hormone receptor, alpha isoform 2	68	Nuclear receptor.|NR C4-type.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding				0	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	TACCGCTGTATCACTTGTGAG	0.542													C	38233842	T	C	38233842	3	2	146	1	0	0	0	0	1	0	0	0	15870	1435	50	3	213	3	THRA	17	38233842	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	1516065	38233842	42961368	367	80922											
WIPF2	147179	broad.mit.edu	37	chr17	38434461	38434461	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgtggagccccacctctgcCacccattctcaggtgaagcc	9	18	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr17:38434461C>A	uc002hug.1	+	8	1547	c.1307C>A	c.(1306-1308)CCA>CAA	p.P436Q	WIPF2_uc002huh.1_Missense_Mutation_p.P286Q|WIPF2_uc010cww.1_Missense_Mutation_p.P286Q|WIPF2_uc002hui.1_Missense_Mutation_p.P436Q|WIPF2_uc010cwx.1_Missense_Mutation_p.P178Q|WIPF2_uc010cwy.1_Missense_Mutation_p.P436Q	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	WIRE protein	436						cytoplasm|cytoskeleton	actin binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						CCACCTCTGCCACCCATTCTC	0.502										HNSCC(43;0.11)			A	38434461	C	A	38434461	3	1	146	1	0	0	0	0	1	0	0	0	17365	594	21	5	1333	5	WIPF2	17	38434461	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	200619	38434461	42760749	368	80923											
CDC6	990	broad.mit.edu	37	chr17	38450635	38450635	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtattgctaataccctggaTctcacagatagaattctacc	7	10	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr17:38450635T>A	uc002huj.1	+	7	1173	c.963T>A	c.(961-963)GAT>GAA	p.D321E		NM_001254	NP_001245	Q99741	CDC6_HUMAN	cell division cycle 6 protein	321					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			ovary(2)|breast(1)	3						ATACCCTGGATCTCACAGATA	0.363													A	38450635	T	A	38450635	3	1	146	1	0	0	0	0	1	0	0	0	3083	1432	50	5	985	5	CDC6	17	38450635	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	16174	38450635	42744575	369	80924											
KRT12	3859	broad.mit.edu	37	chr17	39019794	39019794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaggcgcgacgcaggtcGgtgacctcgctcttgctgga	15	11	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr17:39019794G>A	uc002hvk.2	-	5	1062	c.1038C>T	c.(1036-1038)ACC>ACT	p.T346T		NM_000223	NP_000214	Q99456	K1C12_HUMAN	keratin 12	346	Rod.|Coil 2.				visual perception	intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				GACGCAGGTCGGTGACCTCGC	0.592													A	39019794	G	A	39019794	2	1	146	1	0	0	0	0	0	0	0	1	8449	1103	39	1		1	KRT12	17	39019794	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	569159	39019794	42175416	370	80925											
KRT20	54474	broad.mit.edu	37	chr17	39041093	39041093	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaatatgcactgtagtcGcgaccagccctcggggcgtt	12	12	0	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr17:39041093G>A	uc002hvl.2	-	1	387	c.345C>T	c.(343-345)CGC>CGT	p.R115R		NM_019010	NP_061883	P35900	K1C20_HUMAN	keratin 20	115	Rod.|Linker 1.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			large_intestine(1)|kidney(1)|skin(1)	3		Breast(137;0.000301)|Ovarian(249;0.15)				CACTGTAGTCGCGACCAGCCC	0.483													A	39041093	G	A	39041093	2	1	146	1	0	0	0	0	0	0	0	1	8458	1074	38	1		1	KRT20	17	39041093	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	21299	39041093	42154117	371	80926											
KRT19	3880	broad.mit.edu	37	chr17	39684234	39684234	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtaggaggccaggcggTcgttgaggttctgcatggtt	17	8	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr17:39684234T>A	uc002hxd.3	-	1	408	c.266A>T	c.(265-267)GAC>GTC	p.D89V	JUP_uc010wfs.1_Intron	NM_002276	NP_002267	P08727	K1C19_HUMAN	keratin 19	89	Coil 1A.|Rod.				interspecies interaction between organisms|response to estrogen stimulus|sarcomere organization	costamere|intermediate filament	protein binding|structural constituent of cytoskeleton|structural constituent of muscle				0		Breast(137;0.00038)				GGCCAGGCGGTCGTTGAGGTT	0.692													A	39684234	T	A	39684234	3	1	146	1	0	0	0	0	1	0	0	0	8456	1667	58	5	960	5	KRT19	17	39684234	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	643141	39684234	41510976	372	80927											
KRT16	3868	broad.mit.edu	37	chr17	39767353	39767353	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtctcagcgtctctgcGgtttttctctgccatctgct	9	14	4	0	rs140428349		TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr17:39767353G>T	uc002hxg.3	-	4	1040	c.901C>A	c.(901-903)CGC>AGC	p.R301S	JUP_uc010wfs.1_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	301	Rod.|Coil 2.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			skin(1)	1		Breast(137;0.000307)				GCGTCTCTGCGGTTTTTCTCT	0.607													T	39767353	G	T	39767353	3	4	146	1	0	0	0	0	1	0	0	0	8453	1116	39	5	540	5	KRT16	17	39767353	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	83119	39767353	41427857	373	80928											
EIF1	10209	broad.mit.edu	37	chr17	39846155	39846155	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgtccaagggatcgctgatGattacgataaaaagaaacta	9	7	0	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr17:39846155G>T	uc002hxj.2	+	2	321	c.157G>T	c.(157-159)GAT>TAT	p.D53Y	JUP_uc010wfs.1_Intron|EIF1_uc002hxk.2_Intron	NM_005801	NP_005792	P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1	53					regulation of translational initiation|response to stress	cytoplasm	translation initiation factor activity				0		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GATCGCTGATGATTACGATAA	0.433											OREG0024409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	39846155	G	T	39846155	3	4	146	1	0	0	0	0	1	0	0	0	4990	1290	45	5	163	5	EIF1	17	39846155	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	78802	39846155	41349055	374	80929											
CNP	1267	broad.mit.edu	37	chr17	40125917	40125917	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggtagccggaaggggggcgCcttgcagtcctgcaccatca	15	12	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr17:40125917C>G	uc002hyl.1	+	4	1385	c.1241C>G	c.(1240-1242)GCC>GGC	p.A414G	CNP_uc010wfz.1_Missense_Mutation_p.A291G|CNP_uc002hym.1_Missense_Mutation_p.A394G|CNP_uc010wga.1_Missense_Mutation_p.A179G|CNP_uc002hyn.1_Missense_Mutation_p.A179G	NM_033133	NP_149124	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	414					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding				0		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		AAGGGGGGCGCCTTGCAGTCC	0.567													G	40125917	C	G	40125917	3	3	146	1	0	0	0	0	1	0	0	0	3626	739	26	5	1255	5	CNP	17	40125917	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	279762	40125917	41069293	375	80930											
NFE2L1	4779	broad.mit.edu	37	chr17	46136555	46136555	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcccgagccatgaagatccCtttcaccaatgacaaaatca	6	13	2	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr17:46136555C>G	uc002imz.3	+	6	2522	c.1871C>G	c.(1870-1872)CCT>CGT	p.P624R	NFE2L1_uc002ina.3_Missense_Mutation_p.P594R|NFE2L1_uc002inb.3_Missense_Mutation_p.P594R|NFE2L1_uc010wle.1_Missense_Mutation_p.P436R|NFE2L1_uc010wlf.1_Missense_Mutation_p.P468R	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	624					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			skin(1)	1						ATGAAGATCCCTTTCACCAAT	0.542													G	46136555	C	G	46136555	3	3	146	1	0	0	0	0	1	0	0	0	10367	681	24	5	1889	5	NFE2L1	17	46136555	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	6010638	46136555	35058655	376	80931											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	146	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-CD-8529-01A-11D-2340-08	10249829	56386384	24808826	377	80932											
C17orf71	55181	broad.mit.edu	37	chr17	57290168	57290168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caagtactccagatcctgctCctgctaaaaatgaatcctct	5	13	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr17:57290168C>T	uc002ixi.2	+	3	2026	c.1984C>T	c.(1984-1986)CCT>TCT	p.P662S		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	662					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					AGATCCTGCTCCTGCTAAAAA	0.403													T	57290168	C	T	57290168	3	4	146	1	0	0	0	0	1	0	0	0	1878	855	30	4	1994	4	C17orf71	17	57290168	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	903784	57290168	23905042	378	80933											
GNA13	10672	broad.mit.edu	37	chr17	63010790	63010790	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggaaaagtattgatgtcAcactgtcgaaacattcaaac	7	8	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr17:63010790A>G	uc002jfc.2	-	4	928	c.719T>C	c.(718-720)GTG>GCG	p.V240A	GNA13_uc010wqh.1_Missense_Mutation_p.V145A	NM_006572	NP_006563	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein),	240					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding				0						TATTGATGTCACACTGTCGAA	0.378													G	63010790	A	G	63010790	3	3	146	1	0	0	0	0	1	0	0	0	6501	159	6	3	418	3	GNA13	17	63010790	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	5720622	63010790	18184420	379	80934											
IMPA2	3613	broad.mit.edu	37	chr18	12009979	12009979	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgacggcacctgcaattttGtgcacaggtgagctgagcag	13	10	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr18:12009979G>C	uc002kqp.1	+	3	542	c.328G>C	c.(328-330)GTG>CTG	p.V110L	IMPA2_uc002kqo.1_5'UTR|IMPA2_uc010dlb.1_Missense_Mutation_p.V94L|IMPA2_uc002kqq.1_5'UTR	NM_014214	NP_055029	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	110					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			skin(2)	2					Lithium(DB01356)	CTGCAATTTTGTGCACAGGTG	0.542													C	12009979	G	C	12009979	3	2	146	1	0	0	0	0	1	0	0	0	7723	1377	48	5	338	5	IMPA2	18	12009979	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08		12009979	66067269	380	80935											
DSG4	147409	broad.mit.edu	37	chr18	28968948	28968948	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtcttttcgcaaagtgtaTacacagccagcattgaagaa	8	9	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr18:28968948T>G	uc002kwq.2	+	5	619	c.484T>G	c.(484-486)TAC>GAC	p.Y162D	DSG4_uc002kwr.2_Missense_Mutation_p.Y162D	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2 preproprotein	162	Cadherin 2.|Extracellular (Potential).		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCAAAGTGTATACACAGCCAG	0.408													G	28968948	T	G	28968948	3	3	146	1	0	0	0	0	1	0	0	0	4779	1406	49	5	502	5	DSG4	18	28968948	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	16958969	28968948	49108300	381	80936											
CELF4	56853	broad.mit.edu	37	chr18	35145451	35145451	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aatgaacagcttgatggcatCgtggtccttcatgggaatgg	13	7	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr18:35145451C>G	uc002lae.2	-	1	550	c.154G>C	c.(154-156)GAT>CAT	p.D52H	CELF4_uc010dnd.1_Missense_Mutation_p.D52H|CELF4_uc002lag.2_Missense_Mutation_p.D52H|CELF4_uc002laf.2_Missense_Mutation_p.D48H|CELF4_uc002lai.2_Missense_Mutation_p.D48H	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	52	Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						TTGATGGCATCGTGGTCCTTC	0.592													G	35145451	C	G	35145451	3	3	146	1	0	0	0	0	1	0	0	0	3218	884	31	5	1354	5	CELF4	18	35145451	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	6176503	35145451	42931797	382	80937											
SMAD4	4089	broad.mit.edu	37	chr18	48591892	48591892	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccctattgttactgttgatgGatacgtggacccttctggag	11	9	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr18:48591892G>C	uc010xdp.1	+	9	1593	c.1055G>C	c.(1054-1056)GGA>GCA	p.G352A	SMAD4_uc002lfb.3_Missense_Mutation_p.G197A	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	352	MH2.		G -> R (in JP/HHT and JPS).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(2)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ACTGTTGATGGATACGTGGAC	0.443									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				C	48591892	G	C	48591892	3	2	146	1	0	0	0	0	1	0	0	0	14760	1174	41	5	1085	5	SMAD4	18	48591892	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	13446441	48591892	29485356	383	80938											
FUT5	2527	broad.mit.edu	37	chr19	5866954	5866954	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tagtcggggtgcaaggagttCtcgaaggccagatagaactt	14	7	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:5866954C>G	uc002mdo.3	-	2	871	c.783G>C	c.(781-783)GAG>GAC	p.E261D	FUT5_uc010duo.2_Missense_Mutation_p.E261D	NM_002034	NP_002025	Q11128	FUT5_HUMAN	fucosyltransferase 5	261	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity				0						GCAAGGAGTTCTCGAAGGCCA	0.622													G	5866954	C	G	5866954	3	3	146	1	0	0	0	0	1	0	0	0	6107	912	32	5	345	5	FUT5	19	5866954	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08		5866954	53262029	384	80939											
MYO1F	4542	broad.mit.edu	37	chr19	8592285	8592285	+	Frame_Shift_Del	DEL	C	C	-													tcaagacttcacacacctggCccttctcaggtcccttcttc							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:8592284_8592284GC>G	uc002mkg.3	-	21	2550	c.2412_2412GC>C	c.(2410-2412)ggcfs	p.G804fs		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	804						unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CACACACCTGGCCCTTCTCAG	0.557													-	8592285	C	-	8592285	7	5	146	1	0	1	0	1	0	0	0	0	10073	739	26	0	913	0	MYO1F	19	8592285	Frame_Shift_Del	DEL	C	TCGA-CD-8529-01A-11D-2340-08	2725331	8592285	50536698	385	80940											
MUC16	94025	broad.mit.edu	37	chr19	9011337	9011337	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccattgacatagagacTgttcctgtccagggtgtagg	11	9	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:9011337T>A	uc002mkp.2	-	36	39100	c.38896A>T	c.(38896-38898)AGT>TGT	p.S12966C	MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12968	SEA 6.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ACATAGAGACTGTTCCTGTCC	0.557													A	9011337	T	A	9011337	3	1	146	1	0	0	0	0	1	0	0	0	9973	1580	55	5	4823	5	MUC16	19	9011337	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	419052	9011337	50117646	386	80941											
MUC16	94025	broad.mit.edu	37	chr19	9046424	9046424	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccatctctggtgcaccaggtGagattgttgtcagtacagct	11	10	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:9046424G>A	uc002mkp.2	-	5	35411	c.35207C>T	c.(35206-35208)TCA>TTA	p.S11736L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11738	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGCACCAGGTGAGATTGTTGT	0.493													A	9046424	G	A	9046424	3	1	146	1	0	0	0	0	1	0	0	0	9973	1294	45	4	8636	4	MUC16	19	9046424	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	35087	9046424	50082559	387	80942											
ATG4D	84971	broad.mit.edu	37	chr19	10657566	10657566	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccccctgagctgtcagggtCagcctctcccagccggtacc	10	19	3	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:10657566C>T	uc002mov.2	+	4	665	c.545C>T	c.(544-546)TCA>TTA	p.S182L	ATG4D_uc010xlg.1_Missense_Mutation_p.S205L|ATG4D_uc010xlh.1_Missense_Mutation_p.S119L|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_Intron|ATG4D_uc010dxj.2_Intron	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	APG4 autophagy 4 homolog D	182					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity				0			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CTGTCAGGGTCAGCCTCTCCC	0.677													T	10657566	C	T	10657566	3	4	146	1	0	0	0	0	1	0	0	0	1099	838	29	4	559	4	ATG4D	19	10657566	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	1611142	10657566	48471417	388	80943											
OR10H1	26539	broad.mit.edu	37	chr19	15918371	15918371	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aggtggaaaatggccgaggtCaccaccatccccatgaccaa	10	13	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:15918371C>G	uc002nbq.2	-	1	566	c.477G>C	c.(475-477)GTG>GTC	p.V159V		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H,	159	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGGCCGAGGTCACCACCATCC	0.617													G	15918371	C	G	15918371	2	3	146	1	0	0	0	0	0	0	0	1	10905	813	29	5		5	OR10H1	19	15918371	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	5260805	15918371	43210612	389	80944											
SFRS14	10147	broad.mit.edu	37	chr19	19135888	19135888	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	attatgtacttgtcaaaaggCtttatgatttcaaaaaagca	6	5	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:19135888C>G	uc002nkx.2	-	3	1415	c.1269G>C	c.(1267-1269)AAG>AAC	p.K423N	SFRS14_uc002nkz.1_Missense_Mutation_p.K437N|SFRS14_uc002nla.1_Missense_Mutation_p.K423N|SFRS14_uc002nlb.2_Missense_Mutation_p.K423N|SFRS14_uc010xqk.1_Missense_Mutation_p.K192N	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	423					mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)			TGTCAAAAGGCTTTATGATTT	0.388													G	19135888	C	G	19135888	3	3	146	1	0	0	0	0	1	0	0	0	14170	796	28	5	2011	5	SFRS14	19	19135888	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	3217517	19135888	39993095	390	80945											
NDUFA13	51079	broad.mit.edu	37	chr19	19626962	19626962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctagccgtgccgcggaCcatctcaagtgcttccgcca	9	17	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:19626962C>T	uc010xqy.1	+	1	423	c.164C>T	c.(163-165)ACC>ATC	p.T55I	TSSK6_uc002nmq.2_5'Flank|TSSK6_uc002nmr.2_5'Flank|NDUFA13_uc002nms.2_Missense_Mutation_p.T55I|NDUFA13_uc010xqx.1_Missense_Mutation_p.T55I	NM_015965	NP_057049	Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	Error:Variant_position_missing_in_Q9P0J0_after_alignment					apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm	ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding				0					NADH(DB00157)	GTGCCGCGGACCATCTCAAGT	0.632													T	19626962	C	T	19626962	3	4	146	1	0	0	0	0	1	0	0	0	10263	522	18	4		4	NDUFA13	19	19626962	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	491074	19626962	39502021	391	80946											
TSHZ3	57616	broad.mit.edu	37	chr19	31767827	31767827	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctttgttccacctgtccttcGaagctggtatttcacgttgg	9	11	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:31767827G>T	uc002nsy.3	-	2	2937	c.2872C>A	c.(2872-2874)CGA>AGA	p.R958R		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	958	Homeobox; atypical.				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					CCTGTCCTTCGAAGCTGGTAT	0.542													T	31767827	G	T	31767827	2	4	146	1	0	0	0	0	0	0	0	1	16622	1066	37	5		5	TSHZ3	19	31767827	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	12140865	31767827	27361156	392	80947											
ANKRD27	84079	broad.mit.edu	37	chr19	33140660	33140660	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcaaactgacaagtagactgGatgctgctcgacaggcttcc	10	11	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:33140660G>C	uc002ntn.1	-	3	297	c.141C>G	c.(139-141)ATC>ATG	p.I47M	ANKRD27_uc002nto.1_Missense_Mutation_p.I47M	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	47					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)					AAGTAGACTGGATGCTGCTCG	0.448													C	33140660	G	C	33140660	3	2	146	1	0	0	0	0	1	0	0	0	655	1164	41	5	3119	5	ANKRD27	19	33140660	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	1372833	33140660	25988323	393	80948											
LRFN3	79414	broad.mit.edu	37	chr19	36430947	36430947	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcccgcctgcacaagctggCccggctggacatgacctcca	10	17	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:36430947C>A	uc002oco.2	+	2	1072	c.620C>A	c.(619-621)GCC>GAC	p.A207D		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	207	Extracellular (Potential).|LRR 7.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CACAAGCTGGCCCGGCTGGAC	0.701													A	36430947	C	A	36430947	3	1	146	1	0	0	0	0	1	0	0	0	8939	739	26	5	622	5	LRFN3	19	36430947	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	3290287	36430947	22698036	394	80949											
ZNF793	390927	broad.mit.edu	37	chr19	38028263	38028263	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctgtagtgagtgtgggaaaGccttctgctacaagtctgaa	12	7	3	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:38028263G>C	uc010efm.2	+	8	1145	c.703G>C	c.(703-705)GCC>CCC	p.A235P	ZNF793_uc010xts.1_Missense_Mutation_p.A235P|ZNF793_uc010efo.2_Intron	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	zinc finger protein 793	235	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGTGGGAAAGCCTTCTGCTA	0.463													C	38028263	G	C	38028263	3	2	146	1	0	0	0	0	1	0	0	0	18162	971	34	5	717	5	ZNF793	19	38028263	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	1597316	38028263	21100720	395	80950											
ZFP30	22835	broad.mit.edu	37	chr19	38126854	38126854	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgactgaggtgggcacactgTctaaaggcttttccacattc	10	11	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:38126854T>C	uc002ogv.1	-	6	1104	c.588A>G	c.(586-588)AGA>AGG	p.R196R	ZFP30_uc002ogw.1_Silent_p.R196R|ZFP30_uc002ogx.1_Silent_p.R196R|ZFP30_uc010xtt.1_Silent_p.R195R	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	196	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGGCACACTGTCTAAAGGCTT	0.398													C	38126854	T	C	38126854	2	2	146	1	0	0	0	0	0	0	0	1	17641	1664	58	3		3	ZFP30	19	38126854	Silent	SNP	T	TCGA-CD-8529-01A-11D-2340-08	98591	38126854	21002129	396	80951											
RYR1	6261	broad.mit.edu	37	chr19	38946294	38946294	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcctggaggtcctgtactGtgtcctcattgagagtccag	11	11	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:38946294G>T	uc002oit.2	+	16	1824	c.1694G>T	c.(1693-1695)TGT>TTT	p.C565F	RYR1_uc002oiu.2_Missense_Mutation_p.C565F	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	565	Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTCCTGTACTGTGTCCTCATT	0.572													T	38946294	G	T	38946294	3	4	146	1	0	0	0	0	1	0	0	0	13768	1377	48	5	1756	5	RYR1	19	38946294	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	819440	38946294	20182689	397	80952											
LTBP4	8425	broad.mit.edu	37	chr19	41117887	41117887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acactgctggctccgagtgcGagggtgaggccggggaggga	20	9	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:41117887G>A	uc002ooh.1	+	17	2377	c.2377G>A	c.(2377-2379)GAG>AAG	p.E793K	LTBP4_uc002oog.1_Missense_Mutation_p.E756K|LTBP4_uc002ooi.1_Missense_Mutation_p.E726K|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc010xvo.1_Intron|LTBP4_uc010ehb.1_Missense_Mutation_p.E13K|LTBP4_uc002ook.1_Missense_Mutation_p.E13K|LTBP4_uc002ool.1_5'Flank|LTBP4_uc002oom.1_5'Flank|LTBP4_uc010xvp.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	793	Cys-rich.|EGF-like 8; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCCGAGTGCGAGGGTGAGGC	0.652													A	41117887	G	A	41117887	3	1	146	1	0	0	0	0	1	0	0	0	9076	1059	37	1	2736	1	LTBP4	19	41117887	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	2171593	41117887	18011096	398	80953											
CYP2F1	1572	broad.mit.edu	37	chr19	41622244	41622244	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctttgctcccaagacAtgctgacttctctcactaag	7	13	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:41622244A>C	uc002opu.1	+	2	207	c.151A>C	c.(151-153)ATG>CTG	p.M51L	CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.M51L|CYP2F1_uc002opv.1_RNA	NM_000774	NP_000765	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F,	51					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0						CTCCCAAGACATGCTGACTTC	0.567													C	41622244	A	C	41622244	3	2	146	1	0	0	0	0	1	0	0	0	4171	217	8	5	153	5	CYP2F1	19	41622244	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	504357	41622244	17506739	399	80954											
AXL	558	broad.mit.edu	37	chr19	41749531	41749531	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcccccccagagaagtgtttGaaccaacagtggaaagaggt	11	10	0	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:41749531G>C	uc010ehj.2	+	12	1646	c.1456G>C	c.(1456-1458)GAA>CAA	p.E486Q	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.E486Q|AXL_uc010ehk.2_Missense_Mutation_p.E477Q	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	486	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						AGAAGTGTTTGAACCAACAGT	0.557													C	41749531	G	C	41749531	3	2	146	1	0	0	0	0	1	0	0	0	1238	1291	45	5	1502	5	AXL	19	41749531	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	127287	41749531	17379452	400	80955											
BCKDHA	593	broad.mit.edu	37	chr19	41884322	41884322	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctggggtcccccttaagAgagatagcctttgccgagtc	13	11	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:41884322A>G	uc002oqm.3	+	2	459	c.108A>G	c.(106-108)AGA>AGG	p.R36R	CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Silent_p.R36R|TMEM91_uc010ehq.2_Silent_p.R36R|TMEM91_uc002oql.2_Silent_p.R36R|TMEM91_uc010ehr.2_Silent_p.R36R|TMEM91_uc010ehs.2_Silent_p.R36R|TMEM91_uc010eht.2_Silent_p.R36R|TMEM91_uc002oqk.3_Silent_p.R36R|TMEM91_uc002oqn.2_Silent_p.R36R	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	Error:Variant_position_missing_in_P12694_after_alignment					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0						CCCCCTTAAGAGAGATAGCCT	0.617													G	41884322	A	G	41884322	2	3	146	1	0	0	0	0	0	0	0	1	1359	301	11	3		3	BCKDHA	19	41884322	Silent	SNP	A	TCGA-CD-8529-01A-11D-2340-08	134791	41884322	17244661	401	80956											
PSG7	5676	broad.mit.edu	37	chr19	43430815	43430815	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaggttgagacatcctTattctccctggggtttaagt	12	7	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:43430815T>C	uc002ovl.3	-	5	865	c.763A>G	c.(763-765)AAG>GAG	p.K255E	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.K133E	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	255	Ig-like C2-type 2.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				GAGACATCCTTATTCTCCCTG	0.483													C	43430815	T	C	43430815	3	2	146	1	0	0	0	0	1	0	0	0	12660	1763	61	3	508	3	PSG7	19	43430815	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	1546493	43430815	15698168	402	80957											
RELB	5971	broad.mit.edu	37	chr19	45540843	45540843	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcccccggcaccgccacacgCtagcgctgttgtgtgcagcg	13	17	0	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:45540843C>G	uc002paj.1	+	13	1661	c.1535C>G	c.(1534-1536)GCT>GGT	p.A512G	SFRS16_uc002pak.2_5'Flank|SFRS16_uc002pal.2_5'Flank|SFRS16_uc010xxh.1_5'Flank|SFRS16_uc002pam.2_5'Flank|SFRS16_uc002pan.1_5'Flank	NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B	512						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CCGCCACACGCTAGCGCTGTT	0.706													G	45540843	C	G	45540843	3	3	146	1	0	0	0	0	1	0	0	0	13217	797	28	5	1573	5	RELB	19	45540843	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	2110028	45540843	13588140	403	80958											
OPA3	80207	broad.mit.edu	37	chr19	46056952	46056952	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacctcgtcccgcagcgcGttccaggcagcacgctgctc	10	20	0	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:46056952G>A	uc002pck.3	-	2	460	c.360C>T	c.(358-360)AAC>AAT	p.N120N	OPA3_uc002pcj.3_Intron|OPA3_uc010xxk.1_Silent_p.N67N	NM_025136	NP_079412	Q9H6K4	OPA3_HUMAN	OPA3 protein isoform b	120	Potential.				response to stimulus|visual perception	mitochondrion					0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CCCGCAGCGCGTTCCAGGCAG	0.721													A	46056952	G	A	46056952	2	1	146	1	0	0	0	0	0	0	0	1	10872	1136	40	1		1	OPA3	19	46056952	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	516109	46056952	13072031	404	80959											
NOVA2	4858	broad.mit.edu	37	chr19	46457192	46457192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccctgtactaggcataccCgctctgtggttcctgttgag	11	12	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:46457192C>T	uc002pdv.2	-	3	290	c.242G>A	c.(241-243)CGG>CAG	p.R81Q		NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	81	KH 1.					nucleus	RNA binding				0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		TAGGCATACCCGCTCTGTGGT	0.443													T	46457192	C	T	46457192	3	4	146	1	0	0	0	0	1	0	0	0	10555	652	23	1	1244	1	NOVA2	19	46457192	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	400240	46457192	12671791	405	80960											
SLC6A16	28968	broad.mit.edu	37	chr19	49812135	49812135	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caaaggggccggccttacctCtcacagcagcgatgtgtgat	12	12	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:49812135C>G	uc002pmz.2	-	7	1461	c.1227G>C	c.(1225-1227)GAG>GAC	p.E409D	SLC6A16_uc002pna.2_Missense_Mutation_p.E409D|hsa-mir-4324|MI0015854_5'Flank	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	409	Extracellular (Potential).					integral to membrane|intracellular	neurotransmitter:sodium symporter activity			skin(2)|ovary(1)|kidney(1)	4		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GGCCTTACCTCTCACAGCAGC	0.493													G	49812135	C	G	49812135	3	3	146	1	0	0	0	0	1	0	0	0	14679	912	32	5	1007	5	SLC6A16	19	49812135	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	3354943	49812135	9316848	406	80961											
IL4I1	259307	broad.mit.edu	37	chr19	50397628	50397628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctccaccacatagttgCgcagcttcacttcgtgcacc	6	17	2	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:50397628C>T	uc002pqt.1	-	5	542	c.464G>A	c.(463-465)CGC>CAC	p.R155H	IL4I1_uc002pqv.1_Missense_Mutation_p.R164H|IL4I1_uc010eno.1_Missense_Mutation_p.R163H|IL4I1_uc002pqw.1_Missense_Mutation_p.R163H|IL4I1_uc002pqu.1_Missense_Mutation_p.R177H	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 1 precursor	155						lysosome	L-amino-acid oxidase activity			lung(1)|ovary(1)|prostate(1)	3		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		CACATAGTTGCGCAGCTTCAC	0.592													T	50397628	C	T	50397628	3	4	146	1	0	0	0	0	1	0	0	0	7697	768	27	1	1255	1	IL4I1	19	50397628	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	585493	50397628	8731355	407	80962											
ZNF473	25888	broad.mit.edu	37	chr19	50548172	50548172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aattaaagagaggactcagtCctgtgtccaccgtttccacg	9	11	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:50548172C>T	uc002prn.2	+	5	709	c.472C>T	c.(472-474)CCT>TCT	p.P158S	ZNF473_uc002prm.2_Missense_Mutation_p.P158S|ZNF473_uc010ybo.1_Missense_Mutation_p.P146S	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	158					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGGACTCAGTCCTGTGTCCAC	0.463													T	50548172	C	T	50548172	3	4	146	1	0	0	0	0	1	0	0	0	17928	855	30	4	486	4	ZNF473	19	50548172	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	150544	50548172	8580811	408	80963											
POLD1	5424	broad.mit.edu	37	chr19	50910318	50910318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccactgcggctgctggagCggctcatggtgctggtgaac	16	11	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:50910318C>T	uc002psb.3	+	13	1629	c.1573C>T	c.(1573-1575)CGG>TGG	p.R525W	POLD1_uc002psc.3_Missense_Mutation_p.R525W|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.R525W	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	525					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCTGCTGGAGCGGCTCATGGT	0.582								DNA_polymerases_(catalytic_subunits)					T	50910318	C	T	50910318	3	4	146	1	0	0	0	0	1	0	0	0	12190	759	27	1	1619	1	POLD1	19	50910318	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	362146	50910318	8218665	409	80964											
MYBPC2	4606	broad.mit.edu	37	chr19	50957402	50957402	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaggtcaccaaccccgtcggCgaggacgtggcttccatctt	11	14	2	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:50957402C>G	uc002psf.2	+	17	1926	c.1875C>G	c.(1873-1875)GGC>GGG	p.G625G		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	625	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ACCCCGTCGGCGAGGACGTGG	0.632													G	50957402	C	G	50957402	2	3	146	1	0	0	0	0	0	0	0	1	10012	755	27	5		5	MYBPC2	19	50957402	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	47084	50957402	8171581	410	80965											
ZNF615	284370	broad.mit.edu	37	chr19	52496905	52496905	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctgcagtatgagttcgcTgatgtacaatgaggtcactc	10	9	2	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:52496905T>G	uc002pye.1	-	6	1716	c.1424A>C	c.(1423-1425)CAG>CCG	p.Q475P	ZNF615_uc002pyf.1_Missense_Mutation_p.Q486P|ZNF615_uc002pyg.1_Missense_Mutation_p.Q367P|ZNF615_uc002pyh.1_Missense_Mutation_p.Q486P|ZNF615_uc010epi.1_Missense_Mutation_p.Q482P|ZNF615_uc010ydg.1_Missense_Mutation_p.Q480P	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	475	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ATGAGTTCGCTGATGTACAAT	0.448													G	52496905	T	G	52496905	3	3	146	1	0	0	0	0	1	0	0	0	18037	1580	55	5	775	5	ZNF615	19	52496905	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	1539503	52496905	6632078	411	80966											
ZNF614	80110	broad.mit.edu	37	chr19	52520497	52520497	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgcactataggaaaatgtgtCttgctgagatgtacaatatt	9	5	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:52520497C>G	uc002pyj.2	-	5	756	c.354G>C	c.(352-354)AAG>AAC	p.K118N	ZNF614_uc002pyi.3_Missense_Mutation_p.K118N|ZNF614_uc010epj.2_5'UTR	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	zinc finger protein 614	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GAAAATGTGTCTTGCTGAGAT	0.358													G	52520497	C	G	52520497	3	3	146	1	0	0	0	0	1	0	0	0	18036	912	32	5	1407	5	ZNF614	19	52520497	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	23592	52520497	6608486	412	80967											
ZNF320	162967	broad.mit.edu	37	chr19	53384030	53384030	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaggtgtgaaggtgaattaAaggctttaccacaatcacca	9	7	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:53384030A>G	uc002qag.2	-	4	1540	c.1349T>C	c.(1348-1350)TTT>TCT	p.F450S	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.F396S|ZNF320_uc002qai.2_Missense_Mutation_p.F450S	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	450	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		AGGTGAATTAAAGGCTTTACC	0.408													G	53384030	A	G	53384030	3	3	146	1	0	0	0	0	1	0	0	0	17836	14	1	3	184	3	ZNF320	19	53384030	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	863533	53384030	5744953	413	80968											
ZNF665	79788	broad.mit.edu	37	chr19	53668165	53668165	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtatagttaggcttgaAtgaacactaaaggctttgcc	10	6	0	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:53668165A>T	uc010eqm.1	-	4	1678	c.1578T>A	c.(1576-1578)CAT>CAA	p.H526Q		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	461	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		TTAGGCTTGAATGAACACTAA	0.393													T	53668165	A	T	53668165	3	4	146	1	0	0	0	0	1	0	0	0	18070	98	4	5	462	5	ZNF665	19	53668165	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	284135	53668165	5460818	414	80969											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596573	58596573	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcggactccgcgtcctgggGgtcctgcgggtccggggcct	18	14	0	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr19:58596573G>C	uc002qri.2	-	7	1321	c.1012C>G	c.(1012-1014)CCC>GCC	p.P338A	ZSCAN18_uc002qrj.3_Missense_Mutation_p.P337A|ZSCAN18_uc010yhs.1_Missense_Mutation_p.P202A|ZSCAN18_uc002qrh.2_Missense_Mutation_p.P338A|ZSCAN18_uc010yht.1_Missense_Mutation_p.P394A|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	338					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCGTCCTGGGGGTCCTGCGGG	0.711													C	58596573	G	C	58596573	3	2	146	1	0	0	0	0	1	0	0	0	18227	1232	43	5	524	5	ZSCAN18	19	58596573	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	4928408	58596573	532410	415	80970											
PSMF1	9491	broad.mit.edu	37	chr20	1145715	1145715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccgggctacgatgacatGtacctgtgaaggcctcaaga	12	12	1	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr20:1145715G>A	uc002wel.3	+	8	975	c.807G>A	c.(805-807)ATG>ATA	p.M269I	PSMF1_uc010zpo.1_Intron|PSMF1_uc002wem.3_Intron|PSMF1_uc010zpp.1_Intron|PSMF1_uc002wen.3_Missense_Mutation_p.M269I|PSMF1_uc002wep.3_Missense_Mutation_p.M220I	NM_178578	NP_848693	Q92530	PSMF1_HUMAN	proteasome inhibitor subunit 1	269	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding				0						ACGATGACATGTACCTGTGAA	0.572													A	1145715	G	A	1145715	3	1	146	1	0	0	0	0	1	0	0	0	12710	1377	48	4	833	4	PSMF1	20	1145715	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08		1145715	61879805	416	80971											
FKBP1A	2280	broad.mit.edu	37	chr20	1352875	1352875	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcagtttggctctctgacCcacactcatctgtgaaaaga	8	11	4	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr20:1352875C>A	uc002wey.2	-	4	382	c.208G>T	c.(208-210)GGT>TGT	p.G70C	FKBP1A_uc010gac.2_Intron|uc002wew.2_Intron|uc002wex.2_Intron|FKBP1A_uc002wez.2_Missense_Mutation_p.G32V|FKBP1A_uc010gad.2_Intron|FKBP1A_uc002wfa.2_Missense_Mutation_p.G70C|FKBP1A_uc002wfb.2_Missense_Mutation_p.G32V|FKBP1A_uc010gae.2_Missense_Mutation_p.G54C|FKBP1A_uc010gaf.2_RNA	NM_000801	NP_000792	P62942	FKB1A_HUMAN	FK506 binding protein 1A, 12kDa	70	PPIase FKBP-type.				'de novo' protein folding|beta-amyloid formation|fibril organization|heart trabecula formation|negative regulation of protein phosphatase type 2B activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein binding|positive regulation of protein ubiquitination|protein maturation by protein folding|protein refolding|regulation of activin receptor signaling pathway|regulation of immune response|regulation of ryanodine-sensitive calcium-release channel activity|SMAD protein complex assembly|T cell activation|ventricular cardiac muscle tissue morphogenesis	axon|cytosol|sarcoplasmic reticulum membrane|terminal cisterna	activin binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity|signal transducer activity|SMAD binding|type I transforming growth factor beta receptor binding				0					Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864)	GCTCTCTGACCCACACTCATC	0.498													A	1352875	C	A	1352875	3	1	146	1	0	0	0	0	1	0	0	0	5906	623	22	5	122	5	FKBP1A	20	1352875	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	207160	1352875	61672645	417	80972											
MCM8	84515	broad.mit.edu	37	chr20	5932800	5932800	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagtaaaaccacaggaaaaCgtacttctggtaggtgaggt	12	6	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr20:5932800C>A	uc002wmi.2	+	2	516	c.139C>A	c.(139-141)CGT>AGT	p.R47S	TRMT6_uc002wmh.1_5'Flank|TRMT6_uc010zra.1_5'Flank|TRMT6_uc010gbn.1_5'Flank|TRMT6_uc010gbo.1_5'Flank|MCM8_uc002wmj.2_Missense_Mutation_p.R47S|MCM8_uc002wmk.2_Missense_Mutation_p.R47S|MCM8_uc002wml.2_Missense_Mutation_p.R47S|MCM8_uc010gbp.2_Missense_Mutation_p.R47S	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	47					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1						CACAGGAAAACGTACTTCTGG	0.403													A	5932800	C	A	5932800	3	1	146	1	0	0	0	0	1	0	0	0	9393	536	19	5	141	5	MCM8	20	5932800	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	4579925	5932800	57092720	418	80973											
FERMT1	55612	broad.mit.edu	37	chr20	6088221	6088221	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaataatatttaaatcgtaaGagcagctgctcatcctcttg	7	8	2	1	rs148551084		TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr20:6088221G>C	uc002wmr.2	-	6	1596	c.807C>G	c.(805-807)CTC>CTG	p.L269L	FERMT1_uc010gbt.2_Silent_p.L12L|FERMT1_uc002wms.2_Silent_p.L269L|FERMT1_uc002wmt.2_Silent_p.L12L	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	kindlin-1	269	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			ovary(1)|pancreas(1)|skin(1)	3						TAAATCGTAAGAGCAGCTGCT	0.363													C	6088221	G	C	6088221	2	2	146	1	0	0	0	0	0	0	0	1	5817	929	33	5		5	FERMT1	20	6088221	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	155421	6088221	56937299	419	80974											
CRNKL1	51340	broad.mit.edu	37	chr20	20026089	20026089	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgtttttcttcaaagcgggCatacttgatccagttcttaa	7	8	3	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr20:20026089C>G	uc002wrs.2	-	7	1179	c.1147G>C	c.(1147-1149)GCC>CCC	p.A383P		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	383	HAT 5.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3						TCAAAGCGGGCATACTTGATC	0.413													G	20026089	C	G	20026089	3	3	146	1	0	0	0	0	1	0	0	0	3891	710	25	5	1435	5	CRNKL1	20	20026089	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	13937868	20026089	42999431	420	80975											
XRN2	22803	broad.mit.edu	37	chr20	21307129	21307129	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtttggttgtcattatagaCcagcaccaaaaaatgaagat	8	6	1	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr20:21307129C>G	uc002wsf.1	+	3	300	c.205C>G	c.(205-207)CCA>GCA	p.P69A	XRN2_uc002wsg.1_5'UTR|XRN2_uc010zsk.1_Missense_Mutation_p.P15A	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	69					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1						TCATTATAGACCAGCACCAAA	0.338													G	21307129	C	G	21307129	3	3	146	1	0	0	0	0	1	0	0	0	17457	521	18	5	215	5	XRN2	20	21307129	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	1281040	21307129	41718391	421	80976											
REM1	28954	broad.mit.edu	37	chr20	30064443	30064443	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccttcacctgccccagatgaTtggtcttctgaatccagcga	8	14	3	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr20:30064443T>A	uc002wwa.2	+	2	479	c.195T>A	c.(193-195)GAT>GAA	p.D65E		NM_014012	NP_054731	O75628	REM1_HUMAN	RAS-like GTP-binding protein REM	65					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			lung(2)|pancreas(2)	4	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCCCAGATGATTGGTCTTCTG	0.602													A	30064443	T	A	30064443	3	1	146	1	0	0	0	0	1	0	0	0	13222	1490	52	5	197	5	REM1	20	30064443	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	8757314	30064443	32961077	422	80977											
TRPC4AP	26133	broad.mit.edu	37	chr20	33657209	33657209	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctccatggagagaagaggagAaatttcctagtttttttaaa	9	5	0	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr20:33657209A>T	uc002xbk.2	-	3	338	c.304T>A	c.(304-306)TCT>ACT	p.S102T	TRPC4AP_uc002xbl.2_Missense_Mutation_p.S102T|TRPC4AP_uc010zur.1_Intron|TRPC4AP_uc002xbm.1_Missense_Mutation_p.S102T	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	TRPC4-associated protein isoform a	102	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGAAGAGGAGAAATTTCCTAG	0.363													T	33657209	A	T	33657209	3	4	146	1	0	0	0	0	1	0	0	0	16578	246	9	5	2157	5	TRPC4AP	20	33657209	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	3592766	33657209	29368311	423	80978											
DLGAP4	22839	broad.mit.edu	37	chr20	35060579	35060579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcggcttttcttcaccaaGgcaccctcactggagggcac	10	15	3	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr20:35060579G>A	uc002xff.2	+	3	894	c.459G>A	c.(457-459)AAG>AAA	p.K153K	DLGAP4_uc010zvp.1_Silent_p.K153K	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	153					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TCTTCACCAAGGCACCCTCAC	0.657													A	35060579	G	A	35060579	2	1	146	1	0	0	0	0	0	0	0	1	4562	991	35	4		4	DLGAP4	20	35060579	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	1403370	35060579	27964941	424	80979											
BLCAP	10904	broad.mit.edu	37	chr20	36147487	36147487	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggaagctgagcaggtagaaGcccatgaacatggagtggct	15	7	0	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr20:36147487G>C	uc002xha.2	-	2	293	c.90C>G	c.(88-90)GGC>GGG	p.G30G	BLCAP_uc002xhb.2_Silent_p.G30G|BLCAP_uc002xhc.2_Silent_p.G30G|NNAT_uc002xhd.2_5'Flank|NNAT_uc002xhe.2_5'Flank	NM_006698	NP_006689	P62952	BLCAP_HUMAN	bladder cancer associated protein	30	Helical; (Potential).				apoptosis|cell cycle	integral to membrane					0		Myeloproliferative disorder(115;0.00878)				GCAGGTAGAAGCCCATGAACA	0.572													C	36147487	G	C	36147487	2	2	146	1	0	0	0	0	0	0	0	1	1442	958	34	5		5	BLCAP	20	36147487	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	1086908	36147487	26878033	425	80980											
CHD6	84181	broad.mit.edu	37	chr20	40049384	40049384	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacttttgaacagatctgggAtataagccttgggtttctcg	10	7	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr20:40049384A>C	uc002xka.1	-	31	6069	c.5891T>G	c.(5890-5892)ATC>AGC	p.I1964S		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1964					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				CAGATCTGGGATATAAGCCTT	0.463													C	40049384	A	C	40049384	3	2	146	1	0	0	0	0	1	0	0	0	3329	333	12	5	2284	5	CHD6	20	40049384	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	3901897	40049384	22976136	426	80981											
PTPRT	11122	broad.mit.edu	37	chr20	40743892	40743892	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccaggggctctgtttcaaTcagggtgactttaatgtctc	11	9	4	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr20:40743892T>C	uc002xkg.2	-	22	3230	c.3046A>G	c.(3046-3048)ATT>GTT	p.I1016V	PTPRT_uc010ggj.2_Missense_Mutation_p.I1035V|PTPRT_uc010ggi.2_Missense_Mutation_p.I219V	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1016	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				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)				TCTGTTTCAATCAGGGTGACT	0.478													C	40743892	T	C	40743892	3	2	146	1	0	0	0	0	1	0	0	0	12812	1435	50	3	1319	3	PTPRT	20	40743892	Missense_Mutation	SNP	T	TCGA-CD-8529-01A-11D-2340-08	694508	40743892	22281628	427	80982											
MATN4	8785	broad.mit.edu	37	chr20	43933364	43933364	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgccgcatggtctcgaaCtcgaaagggcgcacgctgcg	13	13	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr20:43933364C>T	uc002xnn.2	-	3	334	c.147G>A	c.(145-147)GAG>GAA	p.E49E	MATN4_uc002xno.2_Silent_p.E49E|MATN4_uc002xnp.2_Silent_p.E49E|MATN4_uc010zwr.1_5'UTR|MATN4_uc002xnr.1_Silent_p.E49E|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	49	VWFA 1.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				TGGTCTCGAACTCGAAAGGGC	0.632													T	43933364	C	T	43933364	2	4	146	1	0	0	0	0	0	0	0	1	9336	564	20	4		4	MATN4	20	43933364	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	3189472	43933364	19092156	428	80983											
ZMYND8	23613	broad.mit.edu	37	chr20	45867752	45867752	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggggccggggccgtgacggtGaccgtggaggacgtgctggt	22	9	0	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr20:45867752G>A	uc002xta.1	-	15	2609	c.2355C>T	c.(2353-2355)GTC>GTT	p.V785V	ZMYND8_uc010ghq.1_Silent_p.V462V|ZMYND8_uc010ghr.1_Silent_p.V760V|ZMYND8_uc002xst.1_Silent_p.V713V|ZMYND8_uc002xsu.1_Intron|ZMYND8_uc002xsv.1_Silent_p.V713V|ZMYND8_uc002xsw.1_Silent_p.V537V|ZMYND8_uc002xsx.1_Silent_p.V537V|ZMYND8_uc002xsy.1_Silent_p.V760V|ZMYND8_uc002xsz.1_Silent_p.V722V|ZMYND8_uc010zxy.1_Silent_p.V812V|ZMYND8_uc002xtb.1_Silent_p.V805V|ZMYND8_uc002xss.2_Silent_p.V785V|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Silent_p.V805V|ZMYND8_uc002xtd.1_Silent_p.V780V|ZMYND8_uc002xte.1_Silent_p.V785V|ZMYND8_uc010zya.1_Silent_p.V785V|ZMYND8_uc002xtf.1_Silent_p.V805V|ZMYND8_uc002xtg.2_Silent_p.V779V|ZMYND8_uc010ghs.1_Silent_p.V779V|ZMYND8_uc002xsr.1_5'UTR	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	785							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CCGTGACGGTGACCGTGGAGG	0.687													A	45867752	G	A	45867752	2	1	146	1	0	0	0	0	0	0	0	1	17708	1277	45	4		4	ZMYND8	20	45867752	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	1934388	45867752	17157768	429	80984											
ZMYND8	23613	broad.mit.edu	37	chr20	45875236	45875236	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgtgctctacggccgtataGacatcttccgagatttcatt	8	11	3	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr20:45875236G>C	uc002xta.1	-	14	1994	c.1740C>G	c.(1738-1740)GTC>GTG	p.V580V	ZMYND8_uc010ghq.1_Silent_p.V257V|ZMYND8_uc010ghr.1_Silent_p.V555V|ZMYND8_uc002xst.1_Silent_p.V508V|ZMYND8_uc002xsu.1_Silent_p.V580V|ZMYND8_uc002xsv.1_Silent_p.V508V|ZMYND8_uc002xsw.1_Silent_p.V332V|ZMYND8_uc002xsx.1_Silent_p.V332V|ZMYND8_uc002xsy.1_Silent_p.V555V|ZMYND8_uc002xsz.1_Silent_p.V517V|ZMYND8_uc010zxy.1_Silent_p.V607V|ZMYND8_uc002xtb.1_Silent_p.V600V|ZMYND8_uc002xss.2_Silent_p.V580V|ZMYND8_uc010zxz.1_Silent_p.V575V|ZMYND8_uc002xtc.1_Silent_p.V600V|ZMYND8_uc002xtd.1_Silent_p.V575V|ZMYND8_uc002xte.1_Silent_p.V580V|ZMYND8_uc010zya.1_Silent_p.V580V|ZMYND8_uc002xtf.1_Silent_p.V600V|ZMYND8_uc002xtg.2_Silent_p.V574V|ZMYND8_uc010ghs.1_Silent_p.V574V	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	580							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CGGCCGTATAGACATCTTCCG	0.403													C	45875236	G	C	45875236	2	2	146	1	0	0	0	0	0	0	0	1	17708	929	33	5		5	ZMYND8	20	45875236	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	7484	45875236	17150284	430	80985											
CASS4	57091	broad.mit.edu	37	chr20	55033451	55033451	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagactcctgagaggaaacCccgcttatctgaacactgcc	8	14	1	3			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr20:55033451C>A	uc002xxp.2	+	7	2234	c.2009C>A	c.(2008-2010)CCC>CAC	p.P670H	CASS4_uc002xxr.2_Missense_Mutation_p.P670H|CASS4_uc010zze.1_Missense_Mutation_p.P616H|CASS4_uc010gio.2_Missense_Mutation_p.P233H	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	670					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						GAGAGGAAACCCCGCTTATCT	0.522													A	55033451	C	A	55033451	3	1	146	1	0	0	0	0	1	0	0	0	2683	623	22	5	2031	5	CASS4	20	55033451	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	9158215	55033451	7992069	431	80986											
C20orf151	140893	broad.mit.edu	37	chr20	60986024	60986024	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctcagtggctgtcagtttCcttctccctctggatggctt	9	14	4	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr20:60986024C>T	uc002ycw.1	-	14	2062	c.1905G>A	c.(1903-1905)AGG>AGA	p.R635R		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	hypothetical protein LOC140893	635											0	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)			CTGTCAGTTTCCTTCTCCCTC	0.637													T	60986024	C	T	60986024	2	4	146	1	0	0	0	0	0	0	0	1	2091	854	30	4		4	C20orf151	20	60986024	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	5952573	60986024	2039496	432	80987											
C20orf11	54994	broad.mit.edu	37	chr20	61574443	61574443	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcaagatccgggagatgataCtgaaaggtcagattcaggag	13	6	3	5			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr20:61574443C>G	uc002ydy.2	+	3	400	c.223C>G	c.(223-225)CTG>GTG	p.L75V		NM_017896	NP_060366	Q9NWU2	CT011_HUMAN	chromosome 20 open reading frame 11	75	CTLH.					nucleus	protein binding				0	Breast(26;5.68e-08)					GGAGATGATACTGAAAGGTCA	0.463													G	61574443	C	G	61574443	3	3	146	1	0	0	0	0	1	0	0	0	2079	564	20	5	229	5	C20orf11	20	61574443	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	588419	61574443	1451077	433	80988											
ZGPAT	84619	broad.mit.edu	37	chr20	62367201	62367201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccagctggggcagctccGggctcaggaagccggcctgc	17	15	1	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr20:62367201G>A	uc002ygk.2	+	7	1704	c.1526G>A	c.(1525-1527)CGG>CAG	p.R509Q	ZGPAT_uc002ygi.2_Missense_Mutation_p.R489Q|ZGPAT_uc002ygj.2_Missense_Mutation_p.R489Q|ZGPAT_uc010gkk.1_Missense_Mutation_p.R66Q|ZGPAT_uc010gkl.1_Missense_Mutation_p.R489Q|ZGPAT_uc002ygm.2_Missense_Mutation_p.R480Q|ZGPAT_uc002ygn.3_RNA|LIME1_uc011abi.1_5'UTR|LIME1_uc002ygp.3_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	509					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GGGCAGCTCCGGGCTCAGGAA	0.642													A	62367201	G	A	62367201	3	1	146	1	0	0	0	0	1	0	0	0	17671	1116	39	1	1548	1	ZGPAT	20	62367201	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	792758	62367201	658319	434	80989											
IFNAR2	3455	broad.mit.edu	37	chr21	34621112	34621112	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgaggaagaattacagtttGatttatctctcgtcattgaa	8	5	2	4			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr21:34621112G>C	uc002yrd.2	+	6	821	c.493G>C	c.(493-495)GAT>CAT	p.D165H	IFNAR2_uc002yrb.2_Missense_Mutation_p.D165H|IFNAR2_uc002yrc.2_Missense_Mutation_p.D165H|IFNAR2_uc002yre.2_Missense_Mutation_p.D165H|IFNAR2_uc002yrf.2_Missense_Mutation_p.D165H|IFNAR2_uc002yrg.2_Missense_Mutation_p.D34H|IL10RB_uc002yrh.1_Missense_Mutation_p.D15H|IL10RB_uc002yri.1_5'UTR	NM_207585	NP_997468	P48551	INAR2_HUMAN	interferon alpha/beta receptor 2 isoform a	165	Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity				0					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	ATTACAGTTTGATTTATCTCT	0.383													C	34621112	G	C	34621112	3	2	146	1	0	0	0	0	1	0	0	0	7545	1290	45	5	511	5	IFNAR2	21	34621112	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08		34621112	13508783	435	80990											
TFF3	7033	broad.mit.edu	37	chr21	43733598	43733598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccactggggccttacctgCttcctgcaggggcttgaaac	12	13	0	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr21:43733598C>T	uc002zav.2	-	2	448	c.376G>A	c.(376-378)GCA>ACA	p.A126T		NM_003226	NP_003217	Q07654	TFF3_HUMAN	trefoil factor 3 precursor	76				QEA -> TRKT (in Ref. 7; AAA36766).	defense response|digestion	apical lamina of hyaline layer				skin(1)	1						GCCTTACCTGCTTCCTGCAGG	0.632													T	43733598	C	T	43733598	3	4	146	1	0	0	0	0	1	0	0	0	15802	797	28	2	24	2	TFF3	21	43733598	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	9112486	43733598	4396297	436	80991											
TMPRSS3	64699	broad.mit.edu	37	chr21	43795903	43795903	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgttcacctctgcgcagccGatgccaaagctggtcgctcc	10	15	2	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr21:43795903G>A	uc002zbb.2	-	12	1470	c.1269C>T	c.(1267-1269)ATC>ATT	p.I423I	TMPRSS3_uc002zay.2_Silent_p.I180I|TMPRSS3_uc002zaz.2_Silent_p.I296I|TMPRSS3_uc002zba.2_Silent_p.I296I|TMPRSS3_uc002zbc.2_Silent_p.I422I	NM_024022	NP_076927	P57727	TMPS3_HUMAN	transmembrane protease, serine 3 isoform 1	423	Peptidase S1.|Extracellular (Potential).				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			ovary(2)|breast(1)	3						CTGCGCAGCCGATGCCAAAGC	0.627													A	43795903	G	A	43795903	2	1	146	1	0	0	0	0	0	0	0	1	16245	1048	37	1		1	TMPRSS3	21	43795903	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	62305	43795903	4333992	437	80992											
KRTAP12-3	386683	broad.mit.edu	37	chr21	46078067	46078067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccctccgtgtgcgtgccCgtgagctgcaggcccatcat	12	16	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr21:46078067C>T	uc002zft.2	+	1	219	c.171C>T	c.(169-171)CCC>CCT	p.P57P	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198697	NP_941970	P60328	KR123_HUMAN	keratin associated protein 12-3	57	8.|14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)	1						TGTGCGTGCCCGTGAGCTGCA	0.647													T	46078067	C	T	46078067	2	4	146	1	0	0	0	0	0	0	0	1	8520	639	23	1		1	KRTAP12-3	21	46078067	Silent	SNP	C	TCGA-CD-8529-01A-11D-2340-08	2282164	46078067	2051828	438	80993											
KRTAP10-12	386685	broad.mit.edu	37	chr21	46117179	46117179	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccttcctggttcctgtgaCtcttgctccgactcctggca	9	15	1	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr21:46117179C>A	uc002zfw.1	+	1	93	c.63C>A	c.(61-63)GAC>GAA	p.D21E	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	keratin associated protein 10-12	21						keratin filament					0						GTTCCTGTGACTCTTGCTCCG	0.682													A	46117179	C	A	46117179	3	1	146	1	0	0	0	0	1	0	0	0	8508	564	20	5	65	5	KRTAP10-12	21	46117179	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	39112	46117179	2012716	439	80994											
DIP2A	23181	broad.mit.edu	37	chr21	47918594	47918594	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtcgagccctggctcgAccgggtcattcagggctcgt	14	14	2	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr21:47918594A>T	uc002zjo.2	+	5	686	c.503A>T	c.(502-504)GAC>GTC	p.D168V	DIP2A_uc011afy.1_Missense_Mutation_p.D104V|DIP2A_uc011afz.1_Missense_Mutation_p.D168V|DIP2A_uc002zjl.2_Missense_Mutation_p.D168V|DIP2A_uc002zjm.2_Missense_Mutation_p.D168V|DIP2A_uc010gql.2_Missense_Mutation_p.D168V|DIP2A_uc002zjn.2_Missense_Mutation_p.D168V	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	168					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCCTGGCTCGACCGGGTCATT	0.652													T	47918594	A	T	47918594	3	4	146	1	0	0	0	0	1	0	0	0	4527	275	10	5	521	5	DIP2A	21	47918594	Missense_Mutation	SNP	A	TCGA-CD-8529-01A-11D-2340-08	1801415	47918594	211301	440	80995											
ZDHHC8	29801	broad.mit.edu	37	chr22	20128487	20128487	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccgagctgcaccgctcaaGgtcaagcttagtgacaacgg	12	12	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr22:20128487G>T	uc002zrq.2	+	7	952	c.846G>T	c.(844-846)AAG>AAT	p.K282N	ZDHHC8_uc002zrr.1_Missense_Mutation_p.K282N|ZDHHC8_uc010gsa.2_Missense_Mutation_p.K88N	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	282	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					CACCGCTCAAGGTCAAGCTTA	0.647													T	20128487	G	T	20128487	3	4	146	1	0	0	0	0	1	0	0	0	17618	991	35	5	872	5	ZDHHC8	22	20128487	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08		20128487	31176079	441	80996											
AP1B1	162	broad.mit.edu	37	chr22	29736691	29736691	+	Frame_Shift_Del	DEL	A	A	-													ggtccacagctcccatctgcAccgaggaggtggccaggggt							TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr22:29736691delA	uc003afj.2	-	14	2136	c.1952delT	c.(1951-1953)GTGfs	p.V651fs	AP1B1_uc003afi.2_Frame_Shift_Del_p.V651fs|AP1B1_uc003afk.2_Frame_Shift_Del_p.V651fs|AP1B1_uc003afl.2_Frame_Shift_Del_p.V651fs|AP1B1_uc011ako.1_Frame_Shift_Del_p.V204fs	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	651	Pro-rich (stalk region).				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						TCCCATCTGCACCGAGGAGGT	0.627													-	29736691	A	-	29736691	7	5	146	1	0	1	0	1	0	0	0	0	731	159	6	0	937	0	AP1B1	22	29736691	Frame_Shift_Del	DEL	A	TCGA-CD-8529-01A-11D-2340-08	9608204	29736691	21567875	442	80997											
DDX17	10521	broad.mit.edu	37	chr22	38889732	38889732	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	taccattaagtacccaatctCtttctggttgactcttgtct	5	11	4	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr22:38889732C>G	uc003avy.3	-	10	1473	c.1370G>C	c.(1369-1371)AGA>ACA	p.R457T	DDX17_uc003avx.3_Missense_Mutation_p.R457T|DDX17_uc011anu.1_Missense_Mutation_p.R370T	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	DEAD box polypeptide 17 isoform 3	378	Helicase C-terminal.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			skin(3)|upper_aerodigestive_tract(1)	4	Melanoma(58;0.0286)					TACCCAATCTCTTTCTGGTTG	0.348													G	38889732	C	G	38889732	3	3	146	1	0	0	0	0	1	0	0	0	4344	913	32	5	841	5	DDX17	22	38889732	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	9153041	38889732	12414834	443	80998											
PARVG	64098	broad.mit.edu	37	chr22	44585079	44585079	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagctcacagtggtgctggaGgccgtgaaccggagtctgca	15	10	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr22:44585079G>T	uc011aqe.1	+	6	757	c.333G>T	c.(331-333)GAG>GAT	p.E111D	PARVG_uc003bep.2_Missense_Mutation_p.E111D|PARVG_uc011aqf.1_Missense_Mutation_p.E111D|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA	NM_001137605	NP_001131077	Q9HBI0	PARVG_HUMAN	parvin, gamma	111	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding				0		Ovarian(80;0.024)|all_neural(38;0.0299)				TGGTGCTGGAGGCCGTGAACC	0.652													T	44585079	G	T	44585079	3	4	146	1	0	0	0	0	1	0	0	0	11470	991	35	5	347	5	PARVG	22	44585079	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	5695347	44585079	6719487	444	80999											
CELSR1	9620	broad.mit.edu	37	chr22	46930239	46930239	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcacaccggacgtgggctcGatgtagaagtccccatcgcc	11	14	1	1	rs35087594	byFrequency	TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chr22:46930239G>A	uc003bhw.1	-	1	2829	c.2829C>T	c.(2827-2829)ATC>ATT	p.I943I		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	943	Extracellular (Potential).|Cadherin 7.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACGTGGGCTCGATGTAGAAGT	0.647													A	46930239	G	A	46930239	2	1	146	1	0	0	0	0	0	0	0	1	3221	1048	37	1		1	CELSR1	22	46930239	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	2345160	46930239	4374327	445	81000											
IL3RA	3563	broad.mit.edu	37	chrX	1460718	1460718	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtctcctgcaaacgaaGgaaggtaagaactggagaaa	11	9	1	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chrX:1460718G>C	uc004cps.2	+	2	409	c.60G>C	c.(58-60)AAG>AAC	p.K20N	IL3RA_uc011mhd.1_Missense_Mutation_p.K20N	NM_002183	NP_002174	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha precursor	20	Extracellular (Potential).					integral to membrane|plasma membrane	interleukin-3 receptor activity			skin(2)|lung(1)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGCAAACGAAGGAAGGTAAGA	0.572													C	1460718	G	C	1460718	3	2	146	1	0	0	0	0	1	0	0	0	7695	991	35	5	62	5	IL3RA	23	1460718	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08		1460718	153809842	446	81001											
NYX	60506	broad.mit.edu	37	chrX	41333460	41333460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggccgacgccttccgcGgcctgcggcgcctgcgcacg	14	20	0	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chrX:41333460G>A	uc004dfh.2	+	2	1184	c.754G>A	c.(754-756)GGC>AGC	p.G252S	NYX_uc011mku.1_Missense_Mutation_p.G247S	NM_022567	NP_072089	Q9GZU5	NYX_HUMAN	nyctalopin precursor	252	LRR 8.				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				lung(2)	2						CGCCTTCCGCGGCCTGCGGCG	0.721													A	41333460	G	A	41333460	3	1	146	1	0	0	0	0	1	0	0	0	10797	1116	39	1	760	1	NYX	23	41333460	Missense_Mutation	SNP	G	TCGA-CD-8529-01A-11D-2340-08	39872742	41333460	113937100	447	81002											
AKAP4	8852	broad.mit.edu	37	chrX	49957514	49957536	+	Frame_Shift_Del	DEL	TGGTTCTCCTTTTGACAGGTGGA	TGGTTCTCCTTTTGACAGGTGGA	-													ttttctgggagtccaggtgtTggttctccttttgacaggtg					rs142687955	byFrequency	TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chrX:49957513_49957535TTGGTTCTCCTTTTGACAGGTGGA>T	uc004dow.1	-	4	1953_1975	c.1829_1851TCCACCTGTCAAAAGGAGAACCAA>A	c.(1828-1851)tccacctgtcaaaaggagaaccaafs	p.S610fs	AKAP4_uc004dou.1_Frame_Shift_Del_p.S601fs|AKAP4_uc004dov.1_Frame_Shift_Del_p.S227fs|AKAP4_uc010njp.1_Frame_Shift_Del_p.S432fs	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	610					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					AGTCCAGGTGTTGGTTCTCCTTTTGACAGGTGGATGGTCCAGG	0.444													-	49957536	TGGTTCTCCTTTTGACAGGTGGA	-	49957514	7	5	146	1	0	1	0	1	0	0	0	0	453	1812	63	0	722	0	AKAP4	23	49957514	Frame_Shift_Del	DEL	TGGTTCTCCTTTTGACAGGTGGA	TCGA-CD-8529-01A-11D-2340-08	8624054	49957514	105313046	448	81003											
DGKK	139189	broad.mit.edu	37	chrX	50146111	50146111	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaagtctttgataactgccaCagctctcatgacacactgca	7	12	2	2			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chrX:50146111C>G	uc010njr.1	-	7	1316	c.1256G>C	c.(1255-1257)TGT>TCT	p.C419S		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	419	Phorbol-ester/DAG-type 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					ATAACTGCCACAGCTCTCATG	0.463													G	50146111	C	G	50146111	3	3	146	1	0	0	0	0	1	0	0	0	4472	478	17	5	2646	5	DGKK	23	50146111	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	188597	50146111	105124449	449	81004											
ERCC6L	54821	broad.mit.edu	37	chrX	71425290	71425290	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcaagtctttcctccatGtcctccacgtggtctaaaac	6	14	3	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chrX:71425290G>A	uc004eaq.1	-	2	3424	c.3327C>T	c.(3325-3327)GAC>GAT	p.D1109D	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Silent_p.D986D	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	1109					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)					TTTCCTCCATGTCCTCCACGT	0.448													A	71425290	G	A	71425290	2	1	146	1	0	0	0	0	0	0	0	1	5218	1368	48	4		4	ERCC6L	23	71425290	Silent	SNP	G	TCGA-CD-8529-01A-11D-2340-08	21279179	71425290	83845270	450	81005											
ATP7A	538	broad.mit.edu	37	chrX	77267114	77267114	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgttcctggagcgccagatTcttccaggattgtctgttat	10	9	2	1			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chrX:77267114T>C	uc004ecx.3	+	9	2275	c.2115T>C	c.(2113-2115)ATT>ATC	p.I705I	ATP7A_uc004ecw.2_3'UTR	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	705	Extracellular (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						AGCGCCAGATTCTTCCAGGAT	0.343													C	77267114	T	C	77267114	2	2	146	1	0	0	0	0	0	0	0	1	1190	1771	62	3		3	ATP7A	23	77267114	Silent	SNP	T	TCGA-CD-8529-01A-11D-2340-08	5841824	77267114	78003446	451	81006											
NSDHL	50814	broad.mit.edu	37	chrX	152014936	152014936	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatttgacagaggacactcCcaaagtgaatgctgacatag	9	9	1	4			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chrX:152014936C>A	uc004fgt.1	+	3	329	c.68C>A	c.(67-69)CCC>CAC	p.P23H	NSDHL_uc004fgs.1_Missense_Mutation_p.P23H	NM_001129765	NP_001123237	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	23					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity				0	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GAGGACACTCCCAAAGTGAAT	0.438													A	152014936	C	A	152014936	3	1	146	1	0	0	0	0	1	0	0	0	10670	623	22	5	70	5	NSDHL	23	152014936	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	74747822	152014936	3255624	452	81007											
HCFC1	3054	broad.mit.edu	37	chrX	153220024	153220024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgaggggcacagcagtgcctCcagggctgtcacagtcactg	14	13	2	0			TCGA-CD-8529-01A-11D-2340-08	TCGA-CD-8529-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931b24da-5d6d-4c2d-8de9-ef32d6eb8565	5faa05c2-24b8-4af2-8552-4d60486c0bcd	g.chrX:153220024C>T	uc004fjp.2	-	17	4354	c.3826G>A	c.(3826-3828)GAG>AAG	p.E1276K		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1276					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGTGCCTCCAGGGCTGTC	0.662													T	153220024	C	T	153220024	3	4	146	1	0	0	0	0	1	0	0	0	6991	864	30	4	2321	4	HCFC1	23	153220024	Missense_Mutation	SNP	C	TCGA-CD-8529-01A-11D-2340-08	1205088	153220024	2050536	453	81008											
VPS13D	55187	broad.mit.edu	37	chr1	12414216	12414216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaatgccaattaatgggaCgctgaaacctggcaaggagg	14	7	0	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr1:12414216C>T	uc001atv.2	+	47	9758	c.9617C>T	c.(9616-9618)ACG>ATG	p.T3206M	VPS13D_uc001atw.2_Missense_Mutation_p.T3181M|VPS13D_uc001atx.2_Missense_Mutation_p.T2393M	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3205					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATTAATGGGACGCTGAAACCT	0.438													T	12414216	C	T	12414216	3	4	147	1	0	0	0	0	1	0	0	0	17189	536	19	1	9799	1	VPS13D	1	12414216	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08		12414216	236836405	1	81009											
ZCCHC11	23318	broad.mit.edu	37	chr1	52901122	52901122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgagcatttacaaggttgCggaccagctgggctgctaag	14	8	0	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr1:52901122C>T	uc001ctx.2	-	27	4409	c.4175G>A	c.(4174-4176)CGC>CAC	p.R1392H	ZCCHC11_uc001cty.2_Missense_Mutation_p.R1393H|ZCCHC11_uc001ctz.2_Missense_Mutation_p.R1388H|ZCCHC11_uc001cua.1_Missense_Mutation_p.R310H	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	1392					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						TACAAGGTTGCGGACCAGCTG	0.428													T	52901122	C	T	52901122	3	4	147	1	0	0	0	0	1	0	0	0	17577	768	27	1	775	1	ZCCHC11	1	52901122	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08	40486906	52901122	196349499	2	81010											
SPTA1	6708	broad.mit.edu	37	chr1	158592943	158592943	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcagtgatctcgggaagtcTctcttgctggaaactctgca	11	10	5	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr1:158592943T>C	uc001fst.1	-	43	6149	c.5950A>G	c.(5950-5952)AGA>GGA	p.R1984G		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1984	Spectrin 19.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCGGGAAGTCTCTCTTGCTGG	0.498													C	158592943	T	C	158592943	3	2	147	1	0	0	0	0	1	0	0	0	15115	1559	54	3	1349	3	SPTA1	1	158592943	Missense_Mutation	SNP	T	TCGA-CD-8530-01A-11D-2340-08	105691821	158592943	90657678	3	81011											
FAM129A	116496	broad.mit.edu	37	chr1	184859256	184859269	+	Frame_Shift_Del	DEL	AAATGCCTGTCAGA	AAATGCCTGTCAGA	-													actcaccaagagggtctgggAaatgcctgtcagacaacaga							TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr1:184859255_184859268GAAATGCCTGTCAGA>G	uc001gra.3	-	3	601_614	c.407_420TCTGACAGGCATTTC>C	c.(406-420)tctgacaggcatttcfs	p.S136fs	FAM129A_uc009wyh.1_Intron|FAM129A_uc009wyi.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	136					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GAGGGTCTGGGAAATGCCTGTCAGACAACAGATT	0.467													-	184859269	AAATGCCTGTCAGA	-	184859256	7	5	147	1	0	1	0	1	0	0	0	0	5436	246	9	0	2411	0	FAM129A	1	184859256	Frame_Shift_Del	DEL	AAATGCCTGTCAGA	TCGA-CD-8530-01A-11D-2340-08	26266313	184859256	64391365	4	81012											
RYR2	6262	broad.mit.edu	37	chr1	237494273	237494273	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggctaacaccgtggagaaAtcagaaggggcaagtaccca	12	10	1	2	rs148850606	by1000genomes	TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr1:237494273A>T	uc001hyl.1	+	3	384	c.264A>T	c.(262-264)AAA>AAT	p.K88N		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	88	Cytoplasmic (By similarity).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCGTGGAGAAATCAGAAGGGG	0.478													T	237494273	A	T	237494273	3	4	147	1	0	0	0	0	1	0	0	0	13769	98	4	5	274	5	RYR2	1	237494273	Missense_Mutation	SNP	A	TCGA-CD-8530-01A-11D-2340-08	52635017	237494273	11756348	5	81013											
DHX57	90957	broad.mit.edu	37	chr2	39075508	39075508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgaagacctggcctctgCgatacaatgtccttcaaaac	7	12	2	2	rs147299842		TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr2:39075508C>T	uc002rrf.2	-	10	2166	c.2067G>A	c.(2065-2067)TCG>TCA	p.S689S	DHX57_uc002rrd.3_Silent_p.S73S|DHX57_uc002rre.2_Silent_p.S122S	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	689	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)				CTGGCCTCTGCGATACAATGT	0.363													T	39075508	C	T	39075508	2	4	147	1	0	0	0	0	0	0	0	1	4513	755	27	1		1	DHX57	2	39075508	Silent	SNP	C	TCGA-CD-8530-01A-11D-2340-08		39075508	204123865	6	81014											
RTN4	57142	broad.mit.edu	37	chr2	55254410	55254410	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtttttgccttctctgagacCtctttagaagcttcactgac	7	11	3	3			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr2:55254410C>G	uc002rye.2	-	3	1123	c.825G>C	c.(823-825)GAG>GAC	p.E275D	RTN4_uc002ryd.2_Missense_Mutation_p.E69D|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	275	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3						TCTCTGAGACCTCTTTAGAAG	0.378													G	55254410	C	G	55254410	3	3	147	1	0	0	0	0	1	0	0	0	13728	680	24	5	2819	5	RTN4	2	55254410	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08	16178902	55254410	187944963	7	81015			1	37		2	2	15	C		4.52234e-05
RTN4	57142	broad.mit.edu	37	chr2	55254424	55254424	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgagacctctttagaagcttCactgacattttcttgaagtg	8	8	3	4			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr2:55254424C>G	uc002rye.2	-	3	1109	c.811G>C	c.(811-813)GAA>CAA	p.E271Q	RTN4_uc002ryd.2_Missense_Mutation_p.E65Q|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	271	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3						TTAGAAGCTTCACTGACATTT	0.378													G	55254424	C	G	55254424	3	3	147	1	0	0	0	0	1	0	0	0	13728	835	29	5	2833	5	RTN4	2	55254424	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08	14	55254424	187944949	8	81016			1	37		2	2	15	C		4.52234e-05
MKI67IP	84365	broad.mit.edu	37	chr2	122489750	122489750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacatcctcagactcaaactCcacaaatgcatagcctttgc	4	14	2	1	rs144818693	byFrequency	TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr2:122489750C>T	uc002tnk.2	-	3	351	c.274G>A	c.(274-276)GAG>AAG	p.E92K	MKI67IP_uc010fls.2_Missense_Mutation_p.E92K	NM_032390	NP_115766	Q9BYG3	MK67I_HUMAN	MKI67 interacting nucleolar phosphoprotein	92	RRM.				protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						GACTCAAACTCCACAAATGCA	0.403													T	122489750	C	T	122489750	3	4	147	1	0	0	0	0	1	0	0	0	9599	864	30	4	627	4	MKI67IP	2	122489750	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08	67235326	122489750	120709623	9	81017											
CNTNAP5	129684	broad.mit.edu	37	chr2	125530443	125530443	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcttgtagtccagtctccTtctcttctgaatgacaacca	7	12	3	2			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr2:125530443T>G	uc002tno.2	+	17	2962	c.2598T>G	c.(2596-2598)CCT>CCG	p.P866P	CNTNAP5_uc010flu.2_Silent_p.P867P	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	866	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCCAGTCTCCTTCTCTTCTGA	0.522													G	125530443	T	G	125530443	2	3	147	1	0	0	0	0	0	0	0	1	3650	1596	56	5		5	CNTNAP5	2	125530443	Silent	SNP	T	TCGA-CD-8530-01A-11D-2340-08	3040693	125530443	117668930	10	81018											
LRP1B	53353	broad.mit.edu	37	chr2	141641574	141641574	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggccatgctccacaaccacTtcaatggcactgacacctac	6	16	1	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr2:141641574T>A	uc002tvj.1	-	25	4953	c.3981A>T	c.(3979-3981)GAA>GAT	p.E1327D	LRP1B_uc010fnl.1_Missense_Mutation_p.E509D	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1327	Extracellular (Potential).|LDL-receptor class B 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCACAACCACTTCAATGGCAC	0.473										TSP Lung(27;0.18)			A	141641574	T	A	141641574	3	1	147	1	0	0	0	0	1	0	0	0	8955	1606	56	5	10086	5	LRP1B	2	141641574	Missense_Mutation	SNP	T	TCGA-CD-8530-01A-11D-2340-08	16111131	141641574	101557799	11	81019											
TTN	7273	broad.mit.edu	37	chr2	179428698	179428698	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggttccatgccaggtaAcatttttccgcagtaactcc	10	11	0	0			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr2:179428698A>C	uc010zfg.1	-	275	74681	c.74457T>G	c.(74455-74457)TGT>TGG	p.C24819W	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.C18514W|TTN_uc010zfi.1_Missense_Mutation_p.C18447W|TTN_uc010zfj.1_Missense_Mutation_p.C18322W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25746							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCCAGGTAACATTTTTCCG	0.468													C	179428698	A	C	179428698	3	2	147	1	0	0	0	0	1	0	0	0	16732	41	2	5	25966	5	TTN	2	179428698	Missense_Mutation	SNP	A	TCGA-CD-8530-01A-11D-2340-08	37787124	179428698	63770675	12	81020											
PLCL1	5334	broad.mit.edu	37	chr2	198949824	198949824	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccctcagaatcctacctccCatcaccagaaaaattaaaaa	3	14	2	2			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr2:198949824C>A	uc010fsp.2	+	2	1874	c.1583C>A	c.(1582-1584)CCA>CAA	p.P528Q	PLCL1_uc002uuv.3_Missense_Mutation_p.P449Q	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	528	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	TCCTACCTCCCATCACCAGAA	0.408													A	198949824	C	A	198949824	3	1	147	1	0	0	0	0	1	0	0	0	12039	594	21	5	1589	5	PLCL1	2	198949824	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08	19521126	198949824	44249549	13	81021											
C2orf60	129450	broad.mit.edu	37	chr2	200820176	200820176	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccctccagccggggtaccggGaggtgctgcccggccatggt	16	15	0	0			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr2:200820176G>C	uc002uvi.3	-	1	284	c.18C>G	c.(16-18)CTC>CTG	p.L6L	C2orf60_uc002uvj.3_5'UTR|C2orf60_uc002uvk.3_RNA|C2orf60_uc010fss.2_5'UTR|C2orf60_uc002uvl.2_Silent_p.L6L|C2orf47_uc002uvm.2_Intron	NM_001039693	NP_001034782	A2RUC4	TYW5_HUMAN	hypothetical protein LOC129450	6					wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding				0						GGGGTACCGGGAGGTGCTGCC	0.652													C	200820176	G	C	200820176	2	2	147	1	0	0	0	0	0	0	0	1	2179	1161	41	5		5	C2orf60	2	200820176	Silent	SNP	G	TCGA-CD-8530-01A-11D-2340-08	1870352	200820176	42379197	14	81022											
HDLBP	3069	broad.mit.edu	37	chr2	242178175	242178175	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgatggaatttctggggtaTagcacattctaatgtcacct	9	8	3	0			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr2:242178175T>C	uc002waz.2	-	20	2866	c.2638A>G	c.(2638-2640)ATA>GTA	p.I880V	HDLBP_uc002wba.2_Missense_Mutation_p.I880V|HDLBP_uc002wbb.2_Missense_Mutation_p.I832V	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	880	KH 10.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TTCTGGGGTATAGCACATTCT	0.423													C	242178175	T	C	242178175	3	2	147	1	0	0	0	0	1	0	0	0	7025	1406	49	3	1204	3	HDLBP	2	242178175	Missense_Mutation	SNP	T	TCGA-CD-8530-01A-11D-2340-08	41357999	242178175	1021198	15	81023											
PLCL2	23228	broad.mit.edu	37	chr3	17051550	17051550	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggttgccaactccgcagatGttgcaaacatctgggttaca	10	10	1	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr3:17051550G>T	uc011awc.1	+	5	793	c.688G>T	c.(688-690)GTT>TTT	p.V230F	PLCL2_uc010het.1_Missense_Mutation_p.V112F|PLCL2_uc011awd.1_Missense_Mutation_p.V112F	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 1	238	PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(2)|ovary(1)|lung(1)	4						CTCCGCAGATGTTGCAAACAT	0.408													T	17051550	G	T	17051550	3	4	147	1	0	0	0	0	1	0	0	0	12040	1377	48	5	712	5	PLCL2	3	17051550	Missense_Mutation	SNP	G	TCGA-CD-8530-01A-11D-2340-08		17051550	180970880	16	81024											
SACM1L	22908	broad.mit.edu	37	chr3	45746628	45746628	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctttcctttcttttaaagtCaagaaagatgttcctccttc	4	10	3	2			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr3:45746628C>T	uc003cos.2	+	3	336	c.132C>T	c.(130-132)GTC>GTT	p.V44V	SACM1L_uc011bag.1_5'UTR|SACM1L_uc011bah.1_Missense_Mutation_p.S21L	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN	suppressor of actin 1	44						Golgi apparatus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		CTTTTAAAGTCAAGAAAGATG	0.358													T	45746628	C	T	45746628	2	4	147	1	0	0	0	0	0	0	0	1	13803	840	29	4		4	SACM1L	3	45746628	Silent	SNP	C	TCGA-CD-8530-01A-11D-2340-08	28695078	45746628	152275802	17	81025											
CELSR3	1951	broad.mit.edu	37	chr3	48699919	48699919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatatgcgcccttggccccGtagtggcagctaagcctggg	14	13	0	0			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr3:48699919G>A	uc003cul.2	-	1	430	c.149C>T	c.(148-150)ACG>ATG	p.T50M	CELSR3_uc003cuf.1_Missense_Mutation_p.T120M	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	50	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCTTGGCCCCGTAGTGGCAGC	0.677													A	48699919	G	A	48699919	3	1	147	1	0	0	0	0	1	0	0	0	3223	1145	40	1	9929	1	CELSR3	3	48699919	Missense_Mutation	SNP	G	TCGA-CD-8530-01A-11D-2340-08	2953291	48699919	149322511	18	81026											
DOCK3	1795	broad.mit.edu	37	chr3	51112789	51112789	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtctttctctttactagacAtttgggcctggacctggtgc	11	10	2	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr3:51112789A>C	uc011bds.1	+	7	490	c.467A>C	c.(466-468)CAT>CCT	p.H156P		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	156						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTTACTAGACATTTGGGCCTG	0.448													C	51112789	A	C	51112789	3	2	147	1	0	0	0	0	1	0	0	0	4688	217	8	5	493	5	DOCK3	3	51112789	Missense_Mutation	SNP	A	TCGA-CD-8530-01A-11D-2340-08	2412870	51112789	146909641	19	81027											
ZBTB49	166793	broad.mit.edu	37	chr4	4301776	4301776	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttggtggtaaaaggagtctGctttaaagcgcataagaatg	13	4	1	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr4:4301776G>T	uc003ghu.2	+	2	279	c.104G>T	c.(103-105)TGC>TTC	p.C35F	ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_5'Flank	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	zinc finger protein 509	35	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						AAAGGAGTCTGCTTTAAAGCG	0.468													T	4301776	G	T	4301776	3	4	147	1	0	0	0	0	1	0	0	0	17547	1319	46	5	106	5	ZBTB49	4	4301776	Missense_Mutation	SNP	G	TCGA-CD-8530-01A-11D-2340-08		4301776	186852500	20	81028											
TECRL	253017	broad.mit.edu	37	chr4	65175598	65175598	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaactttgtgaacaaataaGgtttccaaaaggtatcggat	9	5	0	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr4:65175598G>T	uc003hcv.2	-	6	712	c.603C>A	c.(601-603)ACC>ACA	p.T201T	TECRL_uc003hcw.2_Silent_p.T201T	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	201					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0						GAACAAATAAGGTTTCCAAAA	0.323													T	65175598	G	T	65175598	2	4	147	1	0	0	0	0	0	0	0	1	15743	987	35	5		5	TECRL	4	65175598	Silent	SNP	G	TCGA-CD-8530-01A-11D-2340-08	60873822	65175598	125978678	21	81029											
SPP1	6696	broad.mit.edu	37	chr4	88902928	88902928	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgaggtcaaaatctaagaAgtttcgcagacctgacatcc	8	10	2	4			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr4:88902928A>C	uc003hra.2	+	6	683	c.518A>C	c.(517-519)AAG>ACG	p.K173T	SPP1_uc003hrb.2_Missense_Mutation_p.K146T|SPP1_uc003hrc.2_Missense_Mutation_p.K159T|SPP1_uc011cde.1_Missense_Mutation_p.K186T|SPP1_uc003hrd.2_Missense_Mutation_p.K132T	NM_001040058	NP_001035147	P10451	OSTP_HUMAN	secreted phosphoprotein 1 isoform a	173					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			ovary(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		AAATCTAAGAAGTTTCGCAGA	0.443													C	88902928	A	C	88902928	3	2	147	1	0	0	0	0	1	0	0	0	15085	72	3	5	536	5	SPP1	4	88902928	Missense_Mutation	SNP	A	TCGA-CD-8530-01A-11D-2340-08	23727330	88902928	102251348	22	81030											
ODZ3	55714	broad.mit.edu	37	chr4	183603102	183603102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgctccggccacggaaCgtatcttcaagaaagtggct	11	12	2	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr4:183603102C>T	uc003ivd.1	+	10	2007	c.1970C>T	c.(1969-1971)ACG>ATG	p.T657M	ODZ3_uc003ive.1_Missense_Mutation_p.T63M	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	657	EGF-like 5.|Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGCCACGGAACGTATCTTCAA	0.512													T	183603102	C	T	183603102	3	4	147	1	0	0	0	0	1	0	0	0	10836	536	19	1	2008	1	ODZ3	4	183603102	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08	94700174	183603102	7551174	23	81031											
CDC23	8697	broad.mit.edu	37	chr5	137534434	137534437	+	Frame_Shift_Del	DEL	TCTT	TCTT	-													atatatgagccagaaaaaacTctttcatccaggtgtctggc							TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr5:137534433_137534436CTCTT>C	uc003lcl.3	-	6	721_724	c.690_693AAGAG>G	c.(688-693)aaagagfs	p.K230fs		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.	230					G1 phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCAGAAAAAACTCTTTCATCCAGG	0.441													-	137534437	TCTT	-	137534434	7	5	147	1	0	1	0	1	0	0	0	0	3061	1551	54	0	1141	0	CDC23	5	137534434	Frame_Shift_Del	DEL	TCTT	TCGA-CD-8530-01A-11D-2340-08		137534434	43380826	24	81032											
PCDHGB1	56104	broad.mit.edu	37	chr5	140731511	140731511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccacgggtgctgtaccccGcgctggggcctgatggctcc	15	16	0	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr5:140731511G>A	uc003ljo.1	+	1	1684	c.1684G>A	c.(1684-1686)GCG>ACG	p.A562T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.A562T	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	562	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)			GCTGTACCCCGCGCTGGGGCC	0.697													A	140731511	G	A	140731511	3	1	147	1	0	0	0	0	1	0	0	0	11562	1087	38	1	1686	1	PCDHGB1	5	140731511	Missense_Mutation	SNP	G	TCGA-CD-8530-01A-11D-2340-08	3197077	140731511	40183749	25	81033											
PCDHGB2	56103	broad.mit.edu	37	chr5	140741192	140741192	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcgtagcgagcgacctgaAgccgcgggagattttatcct	12	11	0	2			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr5:140741192A>C	uc003ljs.1	+	1	1490	c.1490A>C	c.(1489-1491)AAG>ACG	p.K497T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.K497T|PCDHGA5_uc011das.1_5'Flank	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	497	Extracellular (Potential).|Cadherin 5.				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)			AGCGACCTGAAGCCGCGGGAG	0.612													C	140741192	A	C	140741192	3	2	147	1	0	0	0	0	1	0	0	0	11563	72	3	5	1492	5	PCDHGB2	5	140741192	Missense_Mutation	SNP	A	TCGA-CD-8530-01A-11D-2340-08	9681	140741192	40174068	26	81034											
EBF1	1879	broad.mit.edu	37	chr5	158250238	158250238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaagcctccgagccctccGcccatgcttggaattattat	8	14	1	0			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr5:158250238G>A	uc010jip.2	-	8	1026	c.724C>T	c.(724-726)CGG>TGG	p.R242W	EBF1_uc011ddw.1_Missense_Mutation_p.R109W|EBF1_uc011ddx.1_Missense_Mutation_p.R242W|EBF1_uc003lxl.3_Missense_Mutation_p.R219W	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	242					multicellular organismal development	nucleus	DNA binding|metal ion binding	p.R242Q(1)	HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGAGCCCTCCGCCCATGCTTG	0.493			T	HMGA2	lipoma								A	158250238	G	A	158250238	3	1	147	1	0	0	0	0	1	0	0	0	4880	1086	38	1	1087	1	EBF1	5	158250238	Missense_Mutation	SNP	G	TCGA-CD-8530-01A-11D-2340-08	17509046	158250238	22665022	27	81035											
DDX41	51428	broad.mit.edu	37	chr5	176942189	176942189	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacagtccacactcacatGgtggggatgccctggatctg	11	13	2	0			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr5:176942189G>A	uc003mho.2	-	7	663	c.642C>T	c.(640-642)ACC>ACT	p.T214T	DDX41_uc003mhm.2_5'UTR|DDX41_uc003mhn.2_Silent_p.T83T|DDX41_uc003mhp.2_Silent_p.T83T|DDX41_uc003mhq.1_5'UTR	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	214	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			ACACTCACATGGTGGGGATGC	0.542													A	176942189	G	A	176942189	2	1	147	1	0	0	0	0	0	0	0	1	4361	1335	47	4		4	DDX41	5	176942189	Silent	SNP	G	TCGA-CD-8530-01A-11D-2340-08	18691951	176942189	3973071	28	81036											
COL23A1	91522	broad.mit.edu	37	chr5	177987741	177987741	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccggatcttcgctagtccGtccaacttctgagccggaaa	10	13	2	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr5:177987741G>A	uc003mje.2	-	2	661	c.303C>T	c.(301-303)GAC>GAT	p.D101D		NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	101	Extracellular (Potential).|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TCGCTAGTCCGTCCAACTTCT	0.493													A	177987741	G	A	177987741	2	1	147	1	0	0	0	0	0	0	0	1	3682	1136	40	1		1	COL23A1	5	177987741	Silent	SNP	G	TCGA-CD-8530-01A-11D-2340-08	1045552	177987741	2927519	29	81037											
PRL	5617	broad.mit.edu	37	chr6	22294767	22294767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgggcaagggggccacGctctggcacaggagcaggtt	17	10	1	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr6:22294767G>A	uc003ndp.2	-	2	594	c.75C>T	c.(73-75)AGC>AGT	p.S25S	PRL_uc003ndo.2_Silent_p.S26S|PRL_uc003ndq.2_Silent_p.S25S|PRL_uc003ndr.1_RNA	NM_000948	NP_000939	P01236	PRL_HUMAN	prolactin precursor	25					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding				0	Ovarian(93;0.163)					AGGGGGCCACGCTCTGGCACA	0.592													A	22294767	G	A	22294767	2	1	147	1	0	0	0	0	0	0	0	1	12528	1078	38	1		1	PRL	6	22294767	Silent	SNP	G	TCGA-CD-8530-01A-11D-2340-08		22294767	148820300	30	81038											
MUC21	394263	broad.mit.edu	37	chr6	30955037	30955037	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggggccagcacagccaccaActctgggtccagcacgacct	11	16	1	0			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr6:30955037A>T	uc003nsh.2	+	2	1336	c.1085A>T	c.(1084-1086)AAC>ATC	p.N362I	MUC21_uc003nsi.1_RNA	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	mucin 21 precursor	362	23.|Ser-rich.|28 X 15 AA approximate tandem repeats.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|skin(1)	2						ACAGCCACCAACTCTGGGTCC	0.632													T	30955037	A	T	30955037	3	4	147	1	0	0	0	0	1	0	0	0	9977	43	2	5	1091	5	MUC21	6	30955037	Missense_Mutation	SNP	A	TCGA-CD-8530-01A-11D-2340-08	8660270	30955037	140160030	31	81039											
COL12A1	1303	broad.mit.edu	37	chr6	75797464	75797464	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggattctccttgtggacCtagtgtggagttaaaacaaa	10	7	2	0			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr6:75797464C>T	uc003phs.2	-	65	9177	c.9011_splice	c.e65-1	p.G3004_splice	COL12A1_uc003pht.2_Splice_Site_p.G1840_splice	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform						cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CCTTGTGGACCTAGTGTGGAG	0.507													T	75797464	C	T	75797464	5	4	147	1	0	0	0	0	0	0	1	0	3669	695	24	4	189	4	COL12A1	6	75797464	Splice_Site	SNP	C	TCGA-CD-8530-01A-11D-2340-08	44842427	75797464	95317603	32	81040											
GJA10	84694	broad.mit.edu	37	chr6	90605670	90605670	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcatggaactatcacaagagCtgttccattctggatgcttt	8	9	3	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr6:90605670C>G	uc011eaa.1	+	1	1483	c.1483C>G	c.(1483-1485)CTG>GTG	p.L495V		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10	495	Cytoplasmic (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		ATCACAAGAGCTGTTCCATTC	0.473													G	90605670	C	G	90605670	3	3	147	1	0	0	0	0	1	0	0	0	6401	796	28	5	1485	5	GJA10	6	90605670	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08	14808206	90605670	80509397	33	81041											
SGK1	6446	broad.mit.edu	37	chr6	134492172	134492172	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcactcacgaagtcatcctTggccccgagccgctttgtcc	8	16	3	0			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr6:134492172T>C	uc003qen.3	-	10	1116	c.1027A>G	c.(1027-1029)AAG>GAG	p.K343E	SGK1_uc003qeo.3_Missense_Mutation_p.K438E|SGK1_uc011ect.1_Missense_Mutation_p.K333E|SGK1_uc011ecu.1_Missense_Mutation_p.K299E|SGK1_uc011ecv.1_Missense_Mutation_p.K357E|SGK1_uc011ecw.1_Missense_Mutation_p.K371E	NM_005627	NP_005618	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1 isoform	343	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(3)|stomach(1)|lung(1)|central_nervous_system(1)	6	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		AAGTCATCCTTGGCCCCGAGC	0.532													C	134492172	T	C	134492172	3	2	147	1	0	0	0	0	1	0	0	0	14207	1821	63	3	280	3	SGK1	6	134492172	Missense_Mutation	SNP	T	TCGA-CD-8530-01A-11D-2340-08	43886502	134492172	36622895	34	81042											
IGF2R	3482	broad.mit.edu	37	chr6	160482581	160482581	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	actggcctaagcacagtcagGaaaccttggacggctgttga	12	10	1	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr6:160482581G>C	uc003qta.2	+	24	3457	c.3309G>C	c.(3307-3309)AGG>AGC	p.R1103S		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1103	8.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GCACAGTCAGGAAACCTTGGA	0.507													C	160482581	G	C	160482581	3	2	147	1	0	0	0	0	1	0	0	0	7576	1165	41	5	3403	5	IGF2R	6	160482581	Missense_Mutation	SNP	G	TCGA-CD-8530-01A-11D-2340-08	25990409	160482581	10632486	35	81043											
FIGNL1	63979	broad.mit.edu	37	chr7	50514332	50514332	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgacatttccaaacaatggTgtgacatggaattttgcagt	9	6	0	2			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr7:50514332T>C	uc003tpc.2	-	4	1031	c.654A>G	c.(652-654)ACA>ACG	p.T218T	FIGNL1_uc003tpb.2_Silent_p.T107T|FIGNL1_uc003tpd.2_Silent_p.T218T|FIGNL1_uc003tpe.2_Silent_p.T218T|FIGNL1_uc010kyy.2_Silent_p.T218T	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	218					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			ovary(3)	3	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CAAACAATGGTGTGACATGGA	0.423													C	50514332	T	C	50514332	2	2	147	1	0	0	0	0	0	0	0	1	5892	1683	59	3		3	FIGNL1	7	50514332	Silent	SNP	T	TCGA-CD-8530-01A-11D-2340-08		50514332	108624331	36	81044											
PCLO	27445	broad.mit.edu	37	chr7	82545485	82545485	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggttggtgtaggttgaacTtgaggtgtgaaggacattgt	18	2	0	3			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr7:82545485T>C	uc003uhx.2	-	7	12106	c.11817A>G	c.(11815-11817)CAA>CAG	p.Q3939Q	PCLO_uc003uhv.2_Silent_p.Q3939Q|PCLO_uc010lec.2_Silent_p.Q904Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3870	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TAGGTTGAACTTGAGGTGTGA	0.438													C	82545485	T	C	82545485	2	2	147	1	0	0	0	0	0	0	0	1	11583	1606	56	3		3	PCLO	7	82545485	Silent	SNP	T	TCGA-CD-8530-01A-11D-2340-08	32031153	82545485	76593178	37	81045											
SRRT	51593	broad.mit.edu	37	chr7	100485890	100485890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatagctggtgctgtccGccctgcagtccccacaggag	12	14	1	0			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr7:100485890G>A	uc003uwy.2	+	20	2709	c.2441G>A	c.(2440-2442)CGC>CAC	p.R814H	SRRT_uc010lhl.1_Missense_Mutation_p.R813H|SRRT_uc003uxa.2_Missense_Mutation_p.R809H|SRRT_uc003uwz.2_Missense_Mutation_p.R810H|uc010lhm.1_5'Flank	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	814	Pro-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						GGTGCTGTCCGCCCTGCAGTC	0.557													A	100485890	G	A	100485890	3	1	147	1	0	0	0	0	1	0	0	0	15171	1087	38	1	2511	1	SRRT	7	100485890	Missense_Mutation	SNP	G	TCGA-CD-8530-01A-11D-2340-08	17940405	100485890	58652773	38	81046											
PRKRIP1	79706	broad.mit.edu	37	chr7	102065546	102065546	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggaagtgcccagtttcacCatggggcgatgacaatgttt	13	8	1	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr7:102065546C>A	uc003uzh.2	+	6	598	c.543C>A	c.(541-543)ACC>ACA	p.T181T	PRKRIP1_uc003uzf.2_Silent_p.T130T|PRKRIP1_uc003uzg.2_Silent_p.T130T|PRKRIP1_uc011kkq.1_Silent_p.T124T|PRKRIP1_uc011kkr.1_Missense_Mutation_p.H160N|PRKRIP1_uc003uzi.1_3'UTR	NM_024653	NP_078929	Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	181						nucleolus				ovary(1)	1						CCAGTTTCACCATGGGGCGAT	0.607													A	102065546	C	A	102065546	2	1	147	1	0	0	0	0	0	0	0	1	12525	581	21	5		5	PRKRIP1	7	102065546	Silent	SNP	C	TCGA-CD-8530-01A-11D-2340-08	1579656	102065546	57073117	39	81047											
LHFPL3	375612	broad.mit.edu	37	chr7	104377350	104377350	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaggaactgaaggcagAaaacaaaggtaagattgctt	13	5	0	4			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr7:104377350A>G	uc003vce.2	+	2	798	c.674A>G	c.(673-675)GAA>GGA	p.E225G	LHFPL3_uc003vcf.2_Missense_Mutation_p.E225G	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	211						integral to membrane					0						CTGAAGGCAGAAAACAAAGGT	0.433													G	104377350	A	G	104377350	3	3	147	1	0	0	0	0	1	0	0	0	8766	246	9	3	680	3	LHFPL3	7	104377350	Missense_Mutation	SNP	A	TCGA-CD-8530-01A-11D-2340-08	2311804	104377350	54761313	40	81048											
SVOPL	136306	broad.mit.edu	37	chr7	138314822	138314822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagatctgtaatgtggtccGtaaatatttagcatccaata	7	8	1	1	rs149009334	by1000genomes	TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr7:138314822G>A	uc011kqh.1	-	9	835	c.835C>T	c.(835-837)CGG>TGG	p.R279W	SVOPL_uc003vue.2_Missense_Mutation_p.R127W	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	SVOP-like isoform 1	279						integral to membrane	transmembrane transporter activity				0						AATGTGGTCCGTAAATATTTA	0.378													A	138314822	G	A	138314822	3	1	147	1	0	0	0	0	1	0	0	0	15421	1144	40	1	671	1	SVOPL	7	138314822	Missense_Mutation	SNP	G	TCGA-CD-8530-01A-11D-2340-08	33937472	138314822	20823841	41	81049											
CHRNB3	1142	broad.mit.edu	37	chr8	42587391	42587391	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaccctgtccatcattgttaCcgtgtttgtcattaacgttc	7	11	2	0			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr8:42587391C>G	uc003xpi.1	+	5	1069	c.941C>G	c.(940-942)ACC>AGC	p.T314S		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	314	Helical; (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATCATTGTTACCGTGTTTGTC	0.443													G	42587391	C	G	42587391	3	3	147	1	0	0	0	0	1	0	0	0	3392	507	18	5	959	5	CHRNB3	8	42587391	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08		42587391	103776631	42	81050											
KCNB2	9312	broad.mit.edu	37	chr8	73480086	73480086	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgctccaggagagttaagatCaatgtggggggcctcaacca	13	9	2	2			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr8:73480086C>A	uc003xzb.2	+	2	705	c.117C>A	c.(115-117)ATC>ATA	p.I39I		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	39	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			GAGTTAAGATCAATGTGGGGG	0.572													A	73480086	C	A	73480086	2	1	147	1	0	0	0	0	0	0	0	1	8013	816	29	5		5	KCNB2	8	73480086	Silent	SNP	C	TCGA-CD-8530-01A-11D-2340-08	30892695	73480086	72883936	43	81051											
RIMS2	9699	broad.mit.edu	37	chr8	104898096	104898096	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggctcagggaccaagttcTtatgcacaaaggaccacaaa	10	10	2	0			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr8:104898096T>C	uc003yls.2	+	2	844	c.603T>C	c.(601-603)TCT>TCC	p.S201S	RIMS2_uc003ylp.2_Silent_p.S423S|RIMS2_uc003ylw.2_Silent_p.S231S|RIMS2_uc003ylq.2_Silent_p.S231S|RIMS2_uc003ylr.2_Silent_p.S231S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	454					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S231S(1)		ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACCAAGTTCTTATGCACAAA	0.478										HNSCC(12;0.0054)			C	104898096	T	C	104898096	2	2	147	1	0	0	0	0	0	0	0	1	13368	1596	56	3		3	RIMS2	8	104898096	Silent	SNP	T	TCGA-CD-8530-01A-11D-2340-08	31418010	104898096	41465926	44	81052											
SYK	6850	broad.mit.edu	37	chr9	93640013	93640013	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtcctggatgctggttAtggagatggcagaacttggt	15	7	0	2			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr9:93640013A>T	uc004aqz.2	+	10	1547	c.1342A>T	c.(1342-1344)ATG>TTG	p.M448L	SYK_uc004ara.2_Missense_Mutation_p.M425L|SYK_uc004arb.2_Missense_Mutation_p.M425L|SYK_uc004arc.2_Missense_Mutation_p.M448L|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	448	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						GATGCTGGTTATGGAGATGGC	0.517			T	ETV6|ITK	MDS|peripheral T-cell lymphoma								T	93640013	A	T	93640013	3	4	147	1	0	0	0	0	1	0	0	0	15435	449	16	5	1376	5	SYK	9	93640013	Missense_Mutation	SNP	A	TCGA-CD-8530-01A-11D-2340-08		93640013	47573418	45	81053											
PTCH1	5727	broad.mit.edu	37	chr9	98220421	98220421	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgctcccagaagaggaaGgggtagccgttggggtaact	15	8	0	2			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr9:98220421G>A	uc004avk.3	-	18	3230	c.3042C>T	c.(3040-3042)CCC>CCT	p.P1014P	PTCH1_uc010mro.2_Silent_p.P863P|PTCH1_uc010mrp.2_Silent_p.P863P|PTCH1_uc010mrq.2_Silent_p.P863P|PTCH1_uc004avl.3_Silent_p.P863P|PTCH1_uc010mrr.2_Silent_p.P948P|PTCH1_uc004avm.3_Silent_p.P1013P	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	1014	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.I963fs*2(1)		skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AGAAGAGGAAGGGGTAGCCGT	0.567									Basal_Cell_Nevus_syndrome				A	98220421	G	A	98220421	2	1	147	1	0	0	0	0	0	0	0	1	12730	987	35	4		4	PTCH1	9	98220421	Silent	SNP	G	TCGA-CD-8530-01A-11D-2340-08	4580408	98220421	42993010	46	81054											
SVEP1	79987	broad.mit.edu	37	chr9	113238531	113238531	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aattatattctaggcaatatTttttggtcaggttctcctcc	6	8	3	0			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr9:113238531T>G	uc010mtz.2	-	14	2889	c.2552A>C	c.(2551-2553)AAA>ACA	p.K851T	SVEP1_uc010mua.1_Missense_Mutation_p.K851T|SVEP1_uc004beu.2_Missense_Mutation_p.K851T	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	851					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TAGGCAATATTTTTTGGTCAG	0.363													G	113238531	T	G	113238531	3	3	147	1	0	0	0	0	1	0	0	0	15417	1841	64	5	8303	5	SVEP1	9	113238531	Missense_Mutation	SNP	T	TCGA-CD-8530-01A-11D-2340-08	15018110	113238531	27974900	47	81055											
ADD3	120	broad.mit.edu	37	chr10	111860580	111860580	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgatggagcagaggaaaCgagttactcagatcctgcaa	11	8	1	3			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr10:111860580C>T	uc001kyt.3	+	3	483	c.169C>T	c.(169-171)CGA>TGA	p.R57*	ADD3_uc001kys.3_Nonsense_Mutation_p.R57*|ADD3_uc001kyu.2_Nonsense_Mutation_p.R57*|ADD3_uc001kyv.2_Nonsense_Mutation_p.R57*|ADD3_uc001kyw.2_Nonsense_Mutation_p.R57*	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	57						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GCAGAGGAAACGAGTTACTCA	0.388													T	111860580	C	T	111860580	4	4	147	1	0	0	0	0	0	1	0	0	306	528	19	1	171	1	ADD3	10	111860580	Nonsense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08		111860580	23674167	48	81056											
SMC3	9126	broad.mit.edu	37	chr10	112350788	112350788	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gattcagatgaagtcagcacGaagattttaatggagtttaa	10	4	2	3			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr10:112350788G>A	uc001kze.2	+	17	1836	c.1710G>A	c.(1708-1710)ACG>ACA	p.T570T		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	570	Flexible hinge.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAGTCAGCACGAAGATTTTAA	0.363													A	112350788	G	A	112350788	2	1	147	1	0	0	0	0	0	0	0	1	14784	1045	37	1		1	SMC3	10	112350788	Silent	SNP	G	TCGA-CD-8530-01A-11D-2340-08	490208	112350788	23183959	49	81057											
HBG2	3048	broad.mit.edu	37	chr11	5275627	5275627	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttatggcatctcccaaggaAgtcagcaccttcttgccatg	8	12	3	0			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr11:5275627A>C	uc001mai.1	-	2	647	c.210T>G	c.(208-210)ACT>ACG	p.T70T	HBG2_uc001mak.1_RNA|HBG2_uc001maj.1_Silent_p.T70T	NM_000559	NP_000550	P69892	HBG2_HUMAN	A-gamma globin	70					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			skin(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCCAAGGAAGTCAGCACCT	0.532													C	5275627	A	C	5275627	2	2	147	1	0	0	0	0	0	0	0	1	6983	59	3	5		5	HBG2	11	5275627	Silent	SNP	A	TCGA-CD-8530-01A-11D-2340-08		5275627	129730889	50	81058											
OR52E6	390078	broad.mit.edu	37	chr11	5862875	5862875	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatattgaaccagaagatgcCcagcattttgggaatggtgg	13	6	0	3			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr11:5862875C>G	uc010qzq.1	-	1	253	c.253G>C	c.(253-255)GGC>CGC	p.G85R	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E,	85	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAAGATGCCCAGCATTTTG	0.463													G	5862875	C	G	5862875	3	3	147	1	0	0	0	0	1	0	0	0	11117	623	22	5	690	5	OR52E6	11	5862875	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08	587248	5862875	129143641	51	81059											
OR2D3	120775	broad.mit.edu	37	chr11	6942565	6942565	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaaccatttctttttaTgggtgtatgacacagataat	8	5	1	2			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr11:6942565T>C	uc010rav.1	+	1	333	c.333T>C	c.(331-333)TAT>TAC	p.Y111Y		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	111	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTTCTTTTTATGGGTGTATGA	0.438													C	6942565	T	C	6942565	2	2	147	1	0	0	0	0	0	0	0	1	10995	1471	51	3		3	OR2D3	11	6942565	Silent	SNP	T	TCGA-CD-8530-01A-11D-2340-08	1079690	6942565	128063951	52	81060											
OR4A15	81328	broad.mit.edu	37	chr11	55135904	55135904	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggattggaggctttcTtcactcattggttcaatttc	10	9	4	0			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr11:55135904T>G	uc010rif.1	+	1	545	c.545T>G	c.(544-546)CTT>CGT	p.L182R		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	182	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GGAGGCTTTCTTCACTCATTG	0.423													G	55135904	T	G	55135904	3	3	147	1	0	0	0	0	1	0	0	0	11040	1609	56	5	547	5	OR4A15	11	55135904	Missense_Mutation	SNP	T	TCGA-CD-8530-01A-11D-2340-08	48193339	55135904	79870612	53	81061											
OR5D13	390142	broad.mit.edu	37	chr11	55541046	55541046	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtcactgtagtggggaacTtgggcatgataataatcatc	11	7	2	1	rs112091941	byFrequency	TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr11:55541046T>G	uc010ril.1	+	1	133	c.133T>G	c.(133-135)TTG>GTG	p.L45V		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				AGTGGGGAACTTGGGCATGAT	0.398													G	55541046	T	G	55541046	3	3	147	1	0	0	0	0	1	0	0	0	11154	1606	56	5	135	5	OR5D13	11	55541046	Missense_Mutation	SNP	T	TCGA-CD-8530-01A-11D-2340-08	405142	55541046	79465470	54	81062											
OR5I1	10798	broad.mit.edu	37	chr11	55703785	55703785	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catacaatgtcagaaacatgAggaacaggacaatctgcagt	9	8	2	2			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr11:55703785A>G	uc010ris.1	-	1	92	c.92T>C	c.(91-93)CTC>CCC	p.L31P		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	31	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CAGAAACATGAGGAACAGGAC	0.393													G	55703785	A	G	55703785	3	3	147	1	0	0	0	0	1	0	0	0	11164	304	11	3	855	3	OR5I1	11	55703785	Missense_Mutation	SNP	A	TCGA-CD-8530-01A-11D-2340-08	162739	55703785	79302731	55	81063											
B3GAT3	26229	broad.mit.edu	37	chr11	62384793	62384793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctcagtgtctgggacagtCgtaccagctctgccttctgt	12	12	4	0	rs144327434		TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr11:62384793C>T	uc001ntw.2	-	3	313	c.284G>A	c.(283-285)CGA>CAA	p.R95Q	B3GAT3_uc009ynz.2_Missense_Mutation_p.R88Q|B3GAT3_uc001ntx.2_RNA|B3GAT3_uc010rlz.1_Missense_Mutation_p.R95Q	NM_012200	NP_036332	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	95	Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding				0						CTGGGACAGTCGTACCAGCTC	0.637													T	62384793	C	T	62384793	3	4	147	1	0	0	0	0	1	0	0	0	1255	884	31	1	735	1	B3GAT3	11	62384793	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08	6681008	62384793	72621723	56	81064											
KRTAP5-10	387273	broad.mit.edu	37	chr11	71276865	71276865	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agggggactgtggctcttgtGggggctccaaagggggctgt	20	7	1	0			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr11:71276865G>C	uc001oqt.1	+	1	257	c.232G>C	c.(232-234)GGG>CGG	p.G78R		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	78	7 X 4 AA repeats of C-C-X-P.					keratin filament				skin(1)	1						TGGCTCTTGTGGGGGCTCCAA	0.677													C	71276865	G	C	71276865	3	2	147	1	0	0	0	0	1	0	0	0	8559	1348	47	5	234	5	KRTAP5-10	11	71276865	Missense_Mutation	SNP	G	TCGA-CD-8530-01A-11D-2340-08	8892072	71276865	63729651	57	81065											
CACNA1C	775	broad.mit.edu	37	chr12	2693707	2693707	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttggccattgctgtggacAacctggctgatgctgagagc	13	10	1	2			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr12:2693707A>G	uc009zdu.1	+	16	2576	c.2263A>G	c.(2263-2265)AAC>GAC	p.N755D	CACNA1C_uc009zdv.1_Missense_Mutation_p.N752D|CACNA1C_uc001qkb.2_Missense_Mutation_p.N755D|CACNA1C_uc001qkc.2_Missense_Mutation_p.N755D|CACNA1C_uc001qke.2_Missense_Mutation_p.N755D|CACNA1C_uc001qkf.2_Missense_Mutation_p.N755D|CACNA1C_uc001qjz.2_Missense_Mutation_p.N755D|CACNA1C_uc001qkd.2_Missense_Mutation_p.N755D|CACNA1C_uc001qkg.2_Missense_Mutation_p.N755D|CACNA1C_uc009zdw.1_Missense_Mutation_p.N755D|CACNA1C_uc001qkh.2_Missense_Mutation_p.N755D|CACNA1C_uc001qkl.2_Missense_Mutation_p.N755D|CACNA1C_uc001qkn.2_Missense_Mutation_p.N755D|CACNA1C_uc001qko.2_Missense_Mutation_p.N755D|CACNA1C_uc001qkp.2_Missense_Mutation_p.N755D|CACNA1C_uc001qkr.2_Missense_Mutation_p.N755D|CACNA1C_uc001qku.2_Missense_Mutation_p.N755D|CACNA1C_uc001qkq.2_Missense_Mutation_p.N755D|CACNA1C_uc001qks.2_Missense_Mutation_p.N755D|CACNA1C_uc001qkt.2_Missense_Mutation_p.N755D|CACNA1C_uc001qka.1_Missense_Mutation_p.N290D|CACNA1C_uc001qki.1_Missense_Mutation_p.N491D|CACNA1C_uc001qkj.1_Missense_Mutation_p.N491D|CACNA1C_uc001qkk.1_Missense_Mutation_p.N491D|CACNA1C_uc001qkm.1_Missense_Mutation_p.N491D|CACNA1C_uc001qkw.2_Missense_Mutation_p.N44D	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	755	II.|Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGCTGTGGACAACCTGGCTGA	0.433													G	2693707	A	G	2693707	3	3	147	1	0	0	0	0	1	0	0	0	2540	130	5	3	2433	3	CACNA1C	12	2693707	Missense_Mutation	SNP	A	TCGA-CD-8530-01A-11D-2340-08		2693707	131158188	58	81066											
PTPRB	5787	broad.mit.edu	37	chr12	70963671	70963671	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccagttcaccgtcaggctatCtgttgctccattgggagaaa	10	11	3	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr12:70963671C>A	uc001swb.3	-	12	2794	c.2764G>T	c.(2764-2766)GAT>TAT	p.D922Y	PTPRB_uc010sto.1_Missense_Mutation_p.D922Y|PTPRB_uc010stp.1_Missense_Mutation_p.D832Y|PTPRB_uc001swc.3_Missense_Mutation_p.D1140Y|PTPRB_uc001swa.3_Missense_Mutation_p.D1052Y|PTPRB_uc001swd.3_Missense_Mutation_p.D1139Y|PTPRB_uc009zrr.1_Missense_Mutation_p.D1019Y	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	922	Fibronectin type-III 11.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTCAGGCTATCTGTTGCTCCA	0.423													A	70963671	C	A	70963671	3	1	147	1	0	0	0	0	1	0	0	0	12796	913	32	5	3313	5	PTPRB	12	70963671	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08	68269964	70963671	62888224	59	81067											
ZFC3H1	196441	broad.mit.edu	37	chr12	72025967	72025967	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttagtaaaataattggattCtaaaaaagatcttcttcgct	5	5	3	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr12:72025967C>A	uc001swo.2	-	15	3504	c.3145G>T	c.(3145-3147)GAA>TAA	p.E1049*		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	1049					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						TAATTGGATTCTAAAAAAGAT	0.318													A	72025967	C	A	72025967	4	1	147	1	0	0	0	0	0	1	0	0	17630	922	32	5	2908	5	ZFC3H1	12	72025967	Nonsense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08	1062296	72025967	61825928	60	81068											
PLA2G1B	5319	broad.mit.edu	37	chr12	120763700	120763701	+	Frame_Shift_Ins	INS	-	-	A													gggggtgcctgagccccccaINSagccacagtagcagccgtag					rs78096484		TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr12:120763699_120763700C>CA	uc001tyd.3	-	1	194_195	c.158_159G>TG	c.(157-159)ttgfs	p.L53fs	PLA2G1B_uc009zwx.3_Frame_Shift_Ins_p.L53fs	NM_000928	NP_000919	P04054	PA21B_HUMAN	Homo sapiens phospholipase A2, group IB (pancreas) (PLA2G1B), mRNA.	53					actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of DNA replication|positive regulation of NF-kappaB transcription factor activity|positive regulation of calcium ion transport into cytosol|positive regulation of immune response|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGAGCCCCCCAAGCCACAGTA	0.614											OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	120763701	-	A	120763700	7	5	147	1	0	1	1	0	0	0	0	0	11994	131	5	0	300	0	PLA2G1B	12	120763700	Frame_Shift_Ins	INS	-	TCGA-CD-8530-01A-11D-2340-08	48737733	120763700	13088195	61	81069											
MLXIP	22877	broad.mit.edu	37	chr12	122618125	122618125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctgctgtctcccagcccCgccccaccgcccatctcccc	5	27	2	0			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr12:122618125C>T	uc001ubq.2	+	9	1323	c.1323C>T	c.(1321-1323)CCC>CCT	p.P441P	MLXIP_uc001ubr.2_Silent_p.P192P|MLXIP_uc001ubs.1_Silent_p.P48P|MLXIP_uc001ubt.2_Silent_p.P48P	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	MLX interacting protein	441	Transactivation domain.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			ovary(2)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CTCCCAGCCCCGCCCCACCGC	0.642													T	122618125	C	T	122618125	2	4	147	1	0	0	0	0	0	0	0	1	9636	639	23	1		1	MLXIP	12	122618125	Silent	SNP	C	TCGA-CD-8530-01A-11D-2340-08	1854425	122618125	11233770	62	81070											
NUPL1	9818	broad.mit.edu	37	chr13	25887119	25887119	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctctacctattacctctAcctcagctagcggtctgact	6	14	4	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr13:25887119A>G	uc001uqi.2	+	4	631	c.385A>G	c.(385-387)ACC>GCC	p.T129A	NUPL1_uc001uqg.1_Missense_Mutation_p.T129A|NUPL1_uc001uqj.2_Missense_Mutation_p.T117A	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1 isoform a	129	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore					0		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TATTACCTCTACCTCAGCTAG	0.448													G	25887119	A	G	25887119	3	3	147	1	0	0	0	0	1	0	0	0	10774	391	14	3	399	3	NUPL1	13	25887119	Missense_Mutation	SNP	A	TCGA-CD-8530-01A-11D-2340-08		25887119	89282759	63	81071											
TDRD3	81550	broad.mit.edu	37	chr13	61103242	61103242	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tagtgggcccaaacgaagatCtgggccaattaagccagaaa	11	9	1	2			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr13:61103242C>G	uc001via.2	+	11	2392	c.1604C>G	c.(1603-1605)TCT>TGT	p.S535C	TDRD3_uc010aef.2_Missense_Mutation_p.S360C|TDRD3_uc001vhz.3_Missense_Mutation_p.S535C|TDRD3_uc010aeg.2_Missense_Mutation_p.S628C|TDRD3_uc001vib.3_Missense_Mutation_p.S534C	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	535					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAACGAAGATCTGGGCCAATT	0.398													G	61103242	C	G	61103242	3	3	147	1	0	0	0	0	1	0	0	0	15729	913	32	5	1925	5	TDRD3	13	61103242	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08	35216123	61103242	54066636	64	81072											
NALCN	259232	broad.mit.edu	37	chr13	101755585	101755585	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttcctcatctggggcaccaGtttgaatatgcgcagaggtc	11	10	2	2			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr13:101755585G>C	uc001vox.1	-	26	3184	c.2995C>G	c.(2995-2997)CTG>GTG	p.L999V		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	999	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGGGGCACCAGTTTGAATATG	0.438													C	101755585	G	C	101755585	3	2	147	1	0	0	0	0	1	0	0	0	10148	1020	36	5	2297	5	NALCN	13	101755585	Missense_Mutation	SNP	G	TCGA-CD-8530-01A-11D-2340-08	40652343	101755585	13414293	65	81073											
AKAP6	9472	broad.mit.edu	37	chr14	33292089	33292089	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagcggcatctctaacagaActtagcagcagtgacgagct	10	11	2	2			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr14:33292089A>C	uc001wrq.2	+	13	5240	c.5070A>C	c.(5068-5070)GAA>GAC	p.E1690D		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1690	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTCTAACAGAACTTAGCAGCA	0.453													C	33292089	A	C	33292089	3	2	147	1	0	0	0	0	1	0	0	0	455	40	2	5	5116	5	AKAP6	14	33292089	Missense_Mutation	SNP	A	TCGA-CD-8530-01A-11D-2340-08		33292089	74057451	66	81074											
SIX1	6495	broad.mit.edu	37	chr14	61113012	61113012	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccccacttaggaccccaAgtccaccagactggaggtga	9	16	0	2			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr14:61113012A>C	uc001xfb.3	-	2	1092	c.844T>G	c.(844-846)TTG>GTG	p.L282V		NM_005982	NP_005973	Q15475	SIX1_HUMAN	SIX homeobox 1	282					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		TAGGACCCCAAGTCCACCAGA	0.597													C	61113012	A	C	61113012	3	2	147	1	0	0	0	0	1	0	0	0	14346	69	3	5	14	5	SIX1	14	61113012	Missense_Mutation	SNP	A	TCGA-CD-8530-01A-11D-2340-08	27820923	61113012	46236528	67	81075											
KIAA1409	57578	broad.mit.edu	37	chr14	94044282	94044282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgtttcggagtcctttgcGtagtccgtttcgtagccctt	10	12	0	0			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr14:94044282G>A	uc001ybv.1	+	15	1858	c.1775G>A	c.(1774-1776)CGT>CAT	p.R592H	KIAA1409_uc001ybs.1_Missense_Mutation_p.R592H	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	769						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		AGTCCTTTGCGTAGTCCGTTT	0.438													A	94044282	G	A	94044282	3	1	147	1	0	0	0	0	1	0	0	0	8230	1145	40	1	1833	1	KIAA1409	14	94044282	Missense_Mutation	SNP	G	TCGA-CD-8530-01A-11D-2340-08	32931270	94044282	13305258	68	81076											
KIAA1409	57578	broad.mit.edu	37	chr14	94069764	94069764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaccctgacctccaaaattCgttgagtatcttctttcatc	5	12	3	3			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr14:94069764C>T	uc001ybv.1	+	23	3306	c.3223C>T	c.(3223-3225)CCT>TCT	p.P1075S	KIAA1409_uc001ybs.1_Nonsense_Mutation_p.R1075*	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		CTCCAAAATTCGTTGAGTATC	0.473													T	94069764	C	T	94069764	3	4	147	1	0	0	0	0	1	0	0	0	8230	898	31	1	3313	1	KIAA1409	14	94069764	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08	25482	94069764	13279776	69	81077											
CES2	8824	broad.mit.edu	37	chr16	66974398	66974398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaccaagtggctgcactaCgctgggtccagcagaatatc	12	11	0	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr16:66974398C>T	uc002eqr.2	+	5	1808	c.808C>T	c.(808-810)CGC>TGC	p.R270C	CES2_uc002eqq.2_Missense_Mutation_p.R270C|CES2_uc002eqs.2_Missense_Mutation_p.R113C	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	206			R -> H.		catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GGCTGCACTACGCTGGGTCCA	0.592													T	66974398	C	T	66974398	3	4	147	1	0	0	0	0	1	0	0	0	3270	536	19	1	826	1	CES2	16	66974398	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08		66974398	23380355	70	81078											
DPEP3	64180	broad.mit.edu	37	chr16	68011862	68011862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccaaagcttgtcaatccGctgacgttggtgtacatgtg	10	10	2	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr16:68011862G>A	uc002evc.3	-	5	904	c.810C>T	c.(808-810)AGC>AGT	p.S270S	DPEP3_uc010cex.2_Silent_p.S270S	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	dipeptidase 3 isoform a	245					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(3)	3		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TTGTCAATCCGCTGACGTTGG	0.537													A	68011862	G	A	68011862	2	1	147	1	0	0	0	0	0	0	0	1	4715	1078	38	1		1	DPEP3	16	68011862	Silent	SNP	G	TCGA-CD-8530-01A-11D-2340-08	1037464	68011862	22342891	71	81079											
GLG1	2734	broad.mit.edu	37	chr16	74487138	74487138	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccaatcaggaacaatataCagatgctcccactgatcaca	7	12	2	2			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr16:74487138C>A	uc002fcy.3	-	26	3517	c.3467G>T	c.(3466-3468)TGT>TTT	p.C1156F	GLG1_uc002fcx.2_Missense_Mutation_p.C1156F|GLG1_uc002fcw.3_Missense_Mutation_p.C1145F|GLG1_uc002fcz.3_Missense_Mutation_p.C573F	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	1156	Helical; (Potential).					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2						GAACAATATACAGATGCTCCC	0.498													A	74487138	C	A	74487138	3	1	147	1	0	0	0	0	1	0	0	0	6436	478	17	5	156	5	GLG1	16	74487138	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08	6475276	74487138	15867615	72	81080											
TP53	7157	broad.mit.edu	37	chr17	7579355	7579355	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcccagaatgcaagaagcccAgacggaaaccgtagctgccc	10	14	0	3			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr17:7579355A>T	uc002gim.2	-	4	526	c.332T>A	c.(331-333)CTG>CAG	p.L111Q	TP53_uc002gig.1_Missense_Mutation_p.L111Q|TP53_uc002gih.2_Missense_Mutation_p.L111Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.L111Q|TP53_uc010cni.1_Missense_Mutation_p.L111Q|TP53_uc002gij.2_Missense_Mutation_p.L111Q|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.L72Q|TP53_uc010cnk.1_Missense_Mutation_p.L126Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	111	|Interaction with HIPK1 (By similarity).		L -> Q (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> M (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.L111P(6)|p.L111Q(4)|p.L111R(4)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.Y107fs*44(1)|p.L111L(1)|p.L111M(1)|p.L111fs*10(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAAGAAGCCCAGACGGAAACC	0.617		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7579355	A	T	7579355	3	4	147	1	0	0	0	0	1	0	0	0	16378	188	7	5	970	5	TP53	17	7579355	Missense_Mutation	SNP	A	TCGA-CD-8530-01A-11D-2340-08		7579355	73615855	73	81081											
DNAH2	146754	broad.mit.edu	37	chr17	7699901	7699901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctggacatgtacaacacCgtggtacagcgcttcctgcc	9	15	0	0			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr17:7699901C>T	uc002giu.1	+	49	7808	c.7794C>T	c.(7792-7794)ACC>ACT	p.T2598T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2598	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGTACAACACCGTGGTACAGC	0.552													T	7699901	C	T	7699901	2	4	147	1	0	0	0	0	0	0	0	1	4602	639	23	1		1	DNAH2	17	7699901	Silent	SNP	C	TCGA-CD-8530-01A-11D-2340-08	120546	7699901	73495309	74	81082											
KRT16	3868	broad.mit.edu	37	chr17	39767724	39767724	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cattgacgtcggcctccacaGtctgccgcagggccagttca	11	15	2	1	rs147423442	byFrequency	TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr17:39767724G>C	uc002hxg.3	-	3	783	c.644C>G	c.(643-645)ACT>AGT	p.T215S	JUP_uc010wfs.1_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	215	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			skin(1)	1		Breast(137;0.000307)				GGCCTCCACAGTCTGCCGCAG	0.637													C	39767724	G	C	39767724	3	2	147	1	0	0	0	0	1	0	0	0	8453	1029	36	5	801	5	KRT16	17	39767724	Missense_Mutation	SNP	G	TCGA-CD-8530-01A-11D-2340-08	32067823	39767724	41427486	75	81083											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	147	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-CD-8530-01A-11D-2340-08	16618660	56386384	24808826	76	81084											
COMP	1311	broad.mit.edu	37	chr19	18893969	18893969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccaagaccacgttgctgtCggccaccagctcagggccct	11	16	1	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr19:18893969C>T	uc002nke.2	-	18	2158	c.2122G>A	c.(2122-2124)GAC>AAC	p.D708N	COMP_uc002nkd.2_Missense_Mutation_p.D675N|COMP_uc010xqj.1_Missense_Mutation_p.D655N	NM_000095	NP_000086	P49747	COMP_HUMAN	cartilage oligomeric matrix protein precursor	708	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding				0						ACGTTGCTGTCGGCCACCAGC	0.627													T	18893969	C	T	18893969	3	4	147	1	0	0	0	0	1	0	0	0	3724	884	31	1	159	1	COMP	19	18893969	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08		18893969	40235014	77	81085											
ZFP14	57677	broad.mit.edu	37	chr19	36832099	36832099	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaataagatgtgcacgctgtCtaaaggcctgcccacattcc	9	12	1	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr19:36832099C>T	uc002odx.1	-	4	722	c.629G>A	c.(628-630)AGA>AAA	p.R210K	ZFP14_uc010xtd.1_Missense_Mutation_p.R211K|ZFP14_uc010eex.1_Missense_Mutation_p.R210K	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	zinc finger protein 14-like	210	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.162)					TGCACGCTGTCTAAAGGCCTG	0.443													T	36832099	C	T	36832099	3	4	147	1	0	0	0	0	1	0	0	0	17636	913	32	4	976	4	ZFP14	19	36832099	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08	17938130	36832099	22296884	78	81086											
ZFP82	284406	broad.mit.edu	37	chr19	36884060	36884060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagcattccttacattcGtaaggtttttcaccagtatg	6	10	1	0	rs113215509	byFrequency	TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr19:36884060G>A	uc002ody.1	-	5	1417	c.1182C>T	c.(1180-1182)TAC>TAT	p.Y394Y		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	zinc finger protein 82 homolog	394	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						CCTTACATTCGTAAGGTTTTT	0.398													A	36884060	G	A	36884060	2	1	147	1	0	0	0	0	0	0	0	1	17650	1140	40	1		1	ZFP82	19	36884060	Silent	SNP	G	TCGA-CD-8530-01A-11D-2340-08	51961	36884060	22244923	79	81087											
PSG8	440533	broad.mit.edu	37	chr19	43268240	43268240	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcccatatataattatttgAccgtctactacatatgatgt	6	8	1	2			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr19:43268240A>G	uc002ouo.2	-	2	356	c.258T>C	c.(256-258)GGT>GGC	p.G86G	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_Intron|PSG8_uc002ouh.2_Silent_p.G86G|PSG8_uc010ein.2_Intron|PSG8_uc002ouj.3_5'UTR|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Silent_p.G86G|PSG8_uc002oum.3_Silent_p.G86G|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Silent_p.G86G	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8 isoform	86	Ig-like V-type.					extracellular region					0		Prostate(69;0.00899)				TAATTATTTGACCGTCTACTA	0.433													G	43268240	A	G	43268240	2	3	147	1	0	0	0	0	0	0	0	1	12661	262	10	3		3	PSG8	19	43268240	Silent	SNP	A	TCGA-CD-8530-01A-11D-2340-08	6384180	43268240	15860743	80	81088											
PSG11	5680	broad.mit.edu	37	chr19	43522985	43522985	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgagttccatatttcacattCatagggtcctgcagtatact	7	9	2	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr19:43522985C>G	uc002ovm.1	-	3	753	c.646G>C	c.(646-648)GAA>CAA	p.E216Q	PSG11_uc002ouw.2_Missense_Mutation_p.E222Q|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.E222Q|PSG11_uc002ovn.1_Missense_Mutation_p.E222Q|PSG11_uc002ovo.1_Missense_Mutation_p.E94Q|PSG11_uc002ovp.1_Missense_Mutation_p.E94Q	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	216	Ig-like C2-type 1.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				ATTTCACATTCATAGGGTCCT	0.507													G	43522985	C	G	43522985	3	3	147	1	0	0	0	0	1	0	0	0	12654	835	29	5	373	5	PSG11	19	43522985	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08	254745	43522985	15605998	81	81089											
PLA2G4C	8605	broad.mit.edu	37	chr19	48598787	48598787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccttcttgaatttgcttcCgaagtgggttatggaaacaa	9	8	1	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr19:48598787C>T	uc002phx.2	-	7	1041	c.643G>A	c.(643-645)GGA>AGA	p.G215R	PLA2G4C_uc002phw.2_Missense_Mutation_p.G150R|PLA2G4C_uc010elr.2_Missense_Mutation_p.G215R|PLA2G4C_uc010xzd.1_Missense_Mutation_p.G225R	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC isoform 1 precursor	215	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			ovary(1)|skin(1)	2		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AATTTGCTTCCGAAGTGGGTT	0.542													T	48598787	C	T	48598787	3	4	147	1	0	0	0	0	1	0	0	0	12003	661	23	1	1030	1	PLA2G4C	19	48598787	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08	5075802	48598787	10530196	82	81090											
ZNF776	284309	broad.mit.edu	37	chr19	58265398	58265398	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagaatgtgataaatcTtttagtcataagcacagtct	9	5	3	2			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr19:58265398T>G	uc002qpx.2	+	3	1123	c.900T>G	c.(898-900)TCT>TCG	p.S300S	ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Silent_p.S300S	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN	zinc finger protein 776	300	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		GTGATAAATCTTTTAGTCATA	0.418													G	58265398	T	G	58265398	2	3	147	1	0	0	0	0	0	0	0	1	18146	1596	56	5		5	ZNF776	19	58265398	Silent	SNP	T	TCGA-CD-8530-01A-11D-2340-08	9666611	58265398	863585	83	81091											
ZNF446	55663	broad.mit.edu	37	chr19	58992030	58992030	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcagtgactgtggccgCgccttcgactggaagtcgca	13	12	1	1	rs35861454		TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr19:58992030C>T	uc002qsz.2	+	7	1407	c.1290C>T	c.(1288-1290)CGC>CGT	p.R430R	ZNF446_uc002qta.2_3'UTR|ZNF446_uc010eur.2_3'UTR|SLC27A5_uc002qtb.2_RNA	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	430	C2H2-type 3.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ACTGTGGCCGCGCCTTCGACT	0.652													T	58992030	C	T	58992030	2	4	147	1	0	0	0	0	0	0	0	1	17916	755	27	1		1	ZNF446	19	58992030	Silent	SNP	C	TCGA-CD-8530-01A-11D-2340-08	726632	58992030	136953	84	81092											
CST8	10047	broad.mit.edu	37	chr20	23473638	23473638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattgatgtagaaattgcccGcagcgattgcagaaagcctt	10	8	0	3	rs149763863	by1000genomes	TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr20:23473638G>A	uc002wth.1	+	3	632	c.275G>A	c.(274-276)CGC>CAC	p.R92H		NM_005492	NP_005483	O60676	CST8_HUMAN	cystatin 8 precursor	92						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GAAATTGCCCGCAGCGATTGC	0.383													A	23473638	G	A	23473638	3	1	147	1	0	0	0	0	1	0	0	0	3978	1087	38	1	281	1	CST8	20	23473638	Missense_Mutation	SNP	G	TCGA-CD-8530-01A-11D-2340-08		23473638	39551882	85	81093											
CST1	1469	broad.mit.edu	37	chr20	23729745	23729745	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccacctctacgtcgaagaAgtaattcacccccccaacgg	7	17	2	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr20:23729745A>C	uc002wtp.2	-	2	321	c.250T>G	c.(250-252)TTC>GTC	p.F84V		NM_001898	NP_001889	P01037	CYTN_HUMAN	cystatin SN precursor	84						extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1	Lung NSC(19;0.0676)|all_lung(19;0.148)					ACGTCGAAGAAGTAATTCACC	0.552													C	23729745	A	C	23729745	3	2	147	1	0	0	0	0	1	0	0	0	3970	72	3	5	183	5	CST1	20	23729745	Missense_Mutation	SNP	A	TCGA-CD-8530-01A-11D-2340-08	256107	23729745	39295775	86	81094											
NPEPL1	79716	broad.mit.edu	37	chr20	57268953	57268953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtgcggacctgcctgcCgcccggagcgcatcgctgca	15	16	0	0			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr20:57268953C>T	uc010zzs.1	+	2	406	c.311C>T	c.(310-312)CCG>CTG	p.P104L	NPEPL1_uc010zzr.1_Missense_Mutation_p.P56L|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.P76L|NPEPL1_uc002xzp.2_5'UTR	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	104					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity				0	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			ACCTGCCTGCCGCCCGGAGCG	0.697													T	57268953	C	T	57268953	3	4	147	1	0	0	0	0	1	0	0	0	10574	652	23	1	163	1	NPEPL1	20	57268953	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08	33539208	57268953	5756567	87	81095											
CRYZL1	9946	broad.mit.edu	37	chr21	34971477	34971477	+	Missense_Mutation	SNP	C	C	T													tccagcatctaggacaatatCtactcccaggccacctgttt							TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr21:34971477C>T	uc011adw.1	-	9	835	c.655G>A	c.(655-657)GAT>AAT	p.D219N	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.D243N|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA|CRYZL1_uc002ysq.2_5'Flank	NM_145858	NP_665857	O95825	QORL1_HUMAN	crystallin, zeta-like 1	219					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding				0						AGGACAATATCTACTCCCAGG	0.393													T	34971477	C	T	34971477	3	4	147	1	0	0	0	0	1	0	0	0	3923	913	32	4	414	4	CRYZL1	21	34971477	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08		34971477	13158418	88	81096	402	2									
CRYZL1	9946	broad.mit.edu	37	chr21	34971482	34971482	+	Missense_Mutation	SNP	C	C	A													catctaggacaatatctactCccaggccacctgtttcttcc							TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr21:34971482C>A	uc011adw.1	-	9	830	c.650G>T	c.(649-651)GGA>GTA	p.G217V	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.G241V|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA|CRYZL1_uc002ysq.2_5'Flank	NM_145858	NP_665857	O95825	QORL1_HUMAN	crystallin, zeta-like 1	217					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding				0						AATATCTACTCCCAGGCCACC	0.383													A	34971482	C	A	34971482	3	1	147	1	0	0	0	0	1	0	0	0	3923	855	30	5	419	5	CRYZL1	21	34971482	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08	5	34971482	13158413	89	81097	402	2									
CRYZL1	9946	broad.mit.edu	37	chr21	34971513	34971513	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtttcttccaaacagctttCagcaacatgaactttcccat	4	12	2	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr21:34971513C>T	uc011adw.1	-	9	799	c.619G>A	c.(619-621)GAA>AAA	p.E207K	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.E231K|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA|CRYZL1_uc002ysq.2_5'Flank	NM_145858	NP_665857	O95825	QORL1_HUMAN	crystallin, zeta-like 1	207					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding				0						AAACAGCTTTCAGCAACATGA	0.403													T	34971513	C	T	34971513	3	4	147	1	0	0	0	0	1	0	0	0	3923	835	29	4	450	4	CRYZL1	21	34971513	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08	31	34971513	13158382	90	81098											
UMODL1	89766	broad.mit.edu	37	chr21	43546460	43546460	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccgctttgtgctcagaacatGacgaacaccgtggtgaggac	12	11	1	3			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr21:43546460G>A	uc002zaf.1	+	18	3153	c.3153G>A	c.(3151-3153)ATG>ATA	p.M1051I	UMODL1_uc002zad.1_Missense_Mutation_p.M979I|UMODL1_uc002zae.1_Missense_Mutation_p.M1107I|UMODL1_uc002zag.1_Missense_Mutation_p.M1179I|UMODL1_uc002zal.1_Missense_Mutation_p.M1I|UMODL1_uc010gpa.1_5'Flank	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	1051	Extracellular (Potential).|ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						CTCAGAACATGACGAACACCG	0.652													A	43546460	G	A	43546460	3	1	147	1	0	0	0	0	1	0	0	0	16977	1290	45	4	3603	4	UMODL1	21	43546460	Missense_Mutation	SNP	G	TCGA-CD-8530-01A-11D-2340-08	8574947	43546460	4583435	91	81099			2	38		3	3	67	G		2.237979e-08
UMODL1	89766	broad.mit.edu	37	chr21	43546475	43546475	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacatgacgaacaccgtggtGaggaccacgctgaggaacga	13	10	0	3			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr21:43546475G>A	uc002zaf.1	+	18	3168	c.3168G>A	c.(3166-3168)GTG>GTA	p.V1056V	UMODL1_uc002zad.1_Silent_p.V984V|UMODL1_uc002zae.1_Silent_p.V1112V|UMODL1_uc002zag.1_Silent_p.V1184V|UMODL1_uc002zal.1_Silent_p.V6V|UMODL1_uc010gpa.1_5'Flank	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	1056	Extracellular (Potential).|ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						ACACCGTGGTGAGGACCACGC	0.627													A	43546475	G	A	43546475	2	1	147	1	0	0	0	0	0	0	0	1	16977	1277	45	4		4	UMODL1	21	43546475	Silent	SNP	G	TCGA-CD-8530-01A-11D-2340-08	15	43546475	4583420	92	81100			2	38		3	3	67	G		2.237979e-08
UMODL1	89766	broad.mit.edu	37	chr21	43546526	43546526	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagggcatcatccaccacctGaagatcctgagccccatcta	8	15	2	3			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr21:43546526G>A	uc002zaf.1	+	18	3219	c.3219G>A	c.(3217-3219)CTG>CTA	p.L1073L	UMODL1_uc002zad.1_Silent_p.L1001L|UMODL1_uc002zae.1_Silent_p.L1129L|UMODL1_uc002zag.1_Silent_p.L1201L|UMODL1_uc002zal.1_Silent_p.L23L|UMODL1_uc010gpa.1_5'Flank	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	1073	Extracellular (Potential).|ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						TCCACCACCTGAAGATCCTGA	0.602													A	43546526	G	A	43546526	2	1	147	1	0	0	0	0	0	0	0	1	16977	1277	45	4		4	UMODL1	21	43546526	Silent	SNP	G	TCGA-CD-8530-01A-11D-2340-08	51	43546526	4583369	93	81101			2	38		3	3	67	G		2.237979e-08
APOL6	80830	broad.mit.edu	37	chr22	36055314	36055314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgaccaaaaatgctcgcGtgctgggaggtgtgatgtcc	14	9	0	2	rs149179370		TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr22:36055314G>A	uc003aoe.2	+	3	997	c.703G>A	c.(703-705)GTG>ATG	p.V235M	APOL6_uc003aod.2_RNA	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	apolipoprotein L6	235					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity				0						AAATGCTCGCGTGCTGGGAGG	0.562													A	36055314	G	A	36055314	3	1	147	1	0	0	0	0	1	0	0	0	810	1145	40	1	709	1	APOL6	22	36055314	Missense_Mutation	SNP	G	TCGA-CD-8530-01A-11D-2340-08		36055314	15249252	94	81102											
CERK	64781	broad.mit.edu	37	chr22	47103812	47103812	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggttctggtcgaccccggCgctcctctgcgtcctcccaa	11	17	2	0			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr22:47103812C>A	uc003bia.2	-	6	750	c.643G>T	c.(643-645)GCC>TCC	p.A215S	CERK_uc010hae.2_Missense_Mutation_p.A17S	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	ceramide kinase	215	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			skin(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCGACCCCGGCGCTCCTCTGC	0.632													A	47103812	C	A	47103812	3	1	147	1	0	0	0	0	1	0	0	0	3267	768	27	5	1002	5	CERK	22	47103812	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08	11048498	47103812	4200754	95	81103											
KIAA2022	340533	broad.mit.edu	37	chrX	73961323	73961323	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgggccaggaagtcatcAgtgatatcatcatcgccatc	9	11	4	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chrX:73961323A>C	uc004eby.2	-	3	3686	c.3069T>G	c.(3067-3069)ACT>ACG	p.T1023T		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1023					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						GGAAGTCATCAGTGATATCAT	0.458													C	73961323	A	C	73961323	2	2	147	1	0	0	0	0	0	0	0	1	8269	175	7	5		5	KIAA2022	23	73961323	Silent	SNP	A	TCGA-CD-8530-01A-11D-2340-08		73961323	81309237	96	81104											
UPRT	139596	broad.mit.edu	37	chrX	74494178	74494178	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cccaagtcccgagcagctgcGacctggcgatctgatcctgg	12	15	1	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chrX:74494178G>T	uc004ecb.1	+	1	218	c.89G>T	c.(88-90)CGA>CTA	p.R30L	UPRT_uc010nlu.1_Missense_Mutation_p.R30L|UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Missense_Mutation_p.R30L|UPRT_uc004ece.1_5'Flank	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog	30					nucleoside metabolic process	cytoplasm|nucleus					0						GAGCAGCTGCGACCTGGCGAT	0.627													T	74494178	G	T	74494178	3	4	147	1	0	0	0	0	1	0	0	0	17011	1058	37	5	91	5	UPRT	23	74494178	Missense_Mutation	SNP	G	TCGA-CD-8530-01A-11D-2340-08	532855	74494178	80776382	97	81105											
ARMCX1	51309	broad.mit.edu	37	chrX	100809059	100809059	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctttaataaagaatgggaTagagagattcttcttaatat	7	4	3	3			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chrX:100809059T>G	uc004ehv.2	+	4	1517	c.1146T>G	c.(1144-1146)GAT>GAG	p.D382E	ARMCX1_uc004ehw.2_Missense_Mutation_p.D382E	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	382	ARM 3.					integral to membrane	binding			ovary(3)|pancreas(1)	4						AAGAATGGGATAGAGAGATTC	0.338													G	100809059	T	G	100809059	3	3	147	1	0	0	0	0	1	0	0	0	959	1403	49	5	1148	5	ARMCX1	23	100809059	Missense_Mutation	SNP	T	TCGA-CD-8530-01A-11D-2340-08	26314881	100809059	54461501	98	81106											
ARMCX3	51566	broad.mit.edu	37	chrX	100880290	100880290	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacgtcgggctgtccagaaAcgggcttcccccaattcaga	11	14	1	2			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chrX:100880290A>G	uc004ehz.1	+	5	854	c.321A>G	c.(319-321)AAA>AAG	p.K107K	ARMCX3_uc004eia.1_Silent_p.K107K|ARMCX3_uc004eib.1_Silent_p.K107K|ARMCX3_uc004eic.1_Silent_p.K107K	NM_016607	NP_057691	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	107						integral to membrane	binding			ovary(1)|lung(1)	2						CTGTCCAGAAACGGGCTTCCC	0.433													G	100880290	A	G	100880290	2	3	147	1	0	0	0	0	0	0	0	1	961	40	2	3		3	ARMCX3	23	100880290	Silent	SNP	A	TCGA-CD-8530-01A-11D-2340-08	71231	100880290	54390270	99	81107											
PNMA3	29944	broad.mit.edu	37	chrX	152226073	152226073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggtggtcagtgggctcCgggccagcaatgcttccata	13	12	1	0			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chrX:152226073C>T	uc004fhc.2	+	2	997	c.661C>T	c.(661-663)CGG>TGG	p.R221W	PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	paraneoplastic cancer-testis-brain antigen	221					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			skin(2)|large_intestine(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					cagtgggctccgggccagcaa	0													T	152226073	C	T	152226073	3	4	147	1	0	0	0	0	1	0	0	0	12155	643	23	1	663	1	PNMA3	23	152226073	Missense_Mutation	SNP	C	TCGA-CD-8530-01A-11D-2340-08	51345783	152226073	3044487	100	81108											
H2AFB1	474382	broad.mit.edu	37	chrX	154113540	154113540	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtcccggagctggcgggCaacgaggcccagaacagcgg	17	12	0	1			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chrX:154113540C>T	uc004fmu.2	+	1	224	c.216C>T	c.(214-216)GGC>GGT	p.G72G	F8_uc004fmt.2_Intron|F8_uc004fms.2_Intron|F8A1_uc004fmv.2_5'Flank	NM_080720	NP_542451	P0C5Y9	H2AB1_HUMAN	H2A histone family, member B3	72					nucleosome assembly	nucleosome|nucleus	DNA binding				0	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCTGGCGGGCAACGAGGCCC	0.627													T	154113540	C	T	154113540	2	4	147	1	0	0	0	0	0	0	0	1	6924	697	25	2		2	H2AFB1	23	154113540	Silent	SNP	C	TCGA-CD-8530-01A-11D-2340-08	1887467	154113540	1157020	101	81109											
UBE4B	10277	broad.mit.edu	37	chr1	10239484	10239484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccccgcagaccctctgatGgacaccctcatgacagaccc	8	18	2	4			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr1:10239484G>A	uc001aqs.3	+	27	4424	c.3711G>A	c.(3709-3711)ATG>ATA	p.M1237I	UBE4B_uc001aqr.3_Missense_Mutation_p.M1108I|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.M692I|UBE4B_uc001aqu.2_Missense_Mutation_p.M118I	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	1237	U-box.				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ACCCTCTGATGGACACCCTCA	0.552													A	10239484	G	A	10239484	3	1	148	1	0	0	0	0	1	0	0	0	16880	1348	47	4	3817	4	UBE4B	1	10239484	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08		10239484	239011137	1	81110											
VPS13D	55187	broad.mit.edu	37	chr1	12337490	12337490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagagatctaaacaggagtGttttctcaacctgaagatgg	11	6	2	4			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr1:12337490G>A	uc001atv.2	+	19	3986	c.3845G>A	c.(3844-3846)TGT>TAT	p.C1282Y	VPS13D_uc001atw.2_Missense_Mutation_p.C1282Y|VPS13D_uc001atx.2_Missense_Mutation_p.C470Y	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1282					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAACAGGAGTGTTTTCTCAAC	0.388													A	12337490	G	A	12337490	3	1	148	1	0	0	0	0	1	0	0	0	17189	1377	48	4	3915	4	VPS13D	1	12337490	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	2098006	12337490	236913131	2	81111											
SPEN	23013	broad.mit.edu	37	chr1	16254749	16254749	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagactactatgaatcaCgatactacgatgatcctcgg	9	9	1	3			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr1:16254749C>T	uc001axk.1	+	11	2218	c.2014C>T	c.(2014-2016)CGA>TGA	p.R672*	SPEN_uc010obp.1_Nonsense_Mutation_p.R631*	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	672	Arg-rich.|Tyr-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTATGAATCACGATACTACGA	0.438													T	16254749	C	T	16254749	4	4	148	1	0	0	0	0	0	1	0	0	15037	528	19	1	2056	1	SPEN	1	16254749	Nonsense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	3917259	16254749	232995872	3	81112											
UBR4	23352	broad.mit.edu	37	chr1	19448467	19448467	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctgccagttgatggttcGctgggcggcaatctctgcac	12	11	2	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr1:19448467G>A	uc001bbi.2	-	67	9860	c.9856C>T	c.(9856-9858)CGA>TGA	p.R3286*	UBR4_uc001bbk.1_Nonsense_Mutation_p.R933*	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3286					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTGATGGTTCGCTGGGCGGCA	0.418													A	19448467	G	A	19448467	4	1	148	1	0	0	0	0	0	1	0	0	16901	1095	38	1	5855	1	UBR4	1	19448467	Nonsense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	3193718	19448467	229802154	4	81113											
UBR4	23352	broad.mit.edu	37	chr1	19499975	19499975	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatccggagccgagaagaCcatcgcagagtgtgcaagat	13	10	0	5			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr1:19499975C>T	uc001bbi.2	-	23	3127	c.3123G>A	c.(3121-3123)TGG>TGA	p.W1041*	UBR4_uc001bbm.1_Nonsense_Mutation_p.W252*	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1041					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCCGAGAAGACCATCGCAGAG	0.453													T	19499975	C	T	19499975	4	4	148	1	0	0	0	0	0	1	0	0	16901	508	18	4	12764	4	UBR4	1	19499975	Nonsense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	51508	19499975	229750646	5	81114											
KIAA0754	643314	broad.mit.edu	37	chr1	39879387	39879387	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttcccagctcctgcagtGcccaccccagaggaatccgc	9	19	0	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr1:39879387G>A	uc009vvt.1	+	1	4212	c.3450G>A	c.(3448-3450)GTG>GTA	p.V1150V	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	1014	11.|Ala-rich.										0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTCCTGCAGTGCCCACCCCAG	0.697													A	39879387	G	A	39879387	2	1	148	1	0	0	0	0	0	0	0	1	8192	1306	46	2		2	KIAA0754	1	39879387	Silent	SNP	G	TCGA-CD-8531-01A-11D-2340-08	20379412	39879387	209371234	6	81115											
BSND	7809	broad.mit.edu	37	chr1	55464928	55464928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgctggccctcggtacGttcctcatgagccatgatcg	10	14	1	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr1:55464928G>A	uc001cye.2	+	1	312	c.69G>A	c.(67-69)ACG>ACA	p.T23T		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	barttin	23	Helical; (Potential).					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				ovary(1)|skin(1)	2						CCCTCGGTACGTTCCTCATGA	0.617													A	55464928	G	A	55464928	2	1	148	1	0	0	0	0	0	0	0	1	1531	1132	40	1		1	BSND	1	55464928	Silent	SNP	G	TCGA-CD-8531-01A-11D-2340-08	15585541	55464928	193785693	7	81116											
SGIP1	84251	broad.mit.edu	37	chr1	67145427	67145427	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaggatcccccttaacaaTtggaccaggtacgcttttgt	8	11	0	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr1:67145427T>C	uc001dcr.2	+	14	1023	c.806T>C	c.(805-807)ATT>ACT	p.I269T	SGIP1_uc010opd.1_Missense_Mutation_p.I36T|SGIP1_uc001dcs.2_Missense_Mutation_p.I36T|SGIP1_uc001dct.2_Missense_Mutation_p.I36T|uc010ope.1_5'Flank|SGIP1_uc009wat.2_Missense_Mutation_p.I36T	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	269	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						CCCTTAACAATTGGACCAGGT	0.473													C	67145427	T	C	67145427	3	2	148	1	0	0	0	0	1	0	0	0	14206	1493	52	3	860	3	SGIP1	1	67145427	Missense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08	11680499	67145427	182105194	8	81117											
GBP6	163351	broad.mit.edu	37	chr1	89848368	89848368	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgttcctggagggcacaAgctctacatggaaacaaagg	11	10	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr1:89848368A>C	uc001dnf.2	+	8	1572	c.1298A>C	c.(1297-1299)AAG>ACG	p.K433T	GBP6_uc010ost.1_Missense_Mutation_p.K303T	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	433							GTP binding|GTPase activity			ovary(2)	2		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GGAGGGCACAAGCTCTACATG	0.443													C	89848368	A	C	89848368	3	2	148	1	0	0	0	0	1	0	0	0	6278	72	3	5	1324	5	GBP6	1	89848368	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	22702941	89848368	159402253	9	81118											
HFM1	164045	broad.mit.edu	37	chr1	91817190	91817190	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcatgataactgcagtagctGtagtgtcaaactggggagaa	12	6	2	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr1:91817190G>C	uc001doa.3	-	17	2088	c.1988C>G	c.(1987-1989)ACA>AGA	p.T663R	HFM1_uc009wdb.2_Intron|HFM1_uc010osu.1_Missense_Mutation_p.T342R|HFM1_uc010osv.1_Missense_Mutation_p.T347R	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	663	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TGCAGTAGCTGTAGTGTCAAA	0.368													C	91817190	G	C	91817190	3	2	148	1	0	0	0	0	1	0	0	0	7083	1377	48	5	2411	5	HFM1	1	91817190	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	1968822	91817190	157433431	10	81119											
COL11A1	1301	broad.mit.edu	37	chr1	103427470	103427470	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccctcctttcagtccaggTgcaccctgggaaaagtgaaa	9	13	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr1:103427470T>C	uc001dul.2	-	41	3438	c.3120A>G	c.(3118-3120)GCA>GCG	p.A1040A	COL11A1_uc001duk.2_Silent_p.A236A|COL11A1_uc001dum.2_Silent_p.A1052A|COL11A1_uc001dun.2_Silent_p.A1001A|COL11A1_uc009weh.2_Silent_p.A924A	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1040	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCAGTCCAGGTGCACCCTGGG	0.398													C	103427470	T	C	103427470	2	2	148	1	0	0	0	0	0	0	0	1	3667	1683	59	3		3	COL11A1	1	103427470	Silent	SNP	T	TCGA-CD-8531-01A-11D-2340-08	11610280	103427470	145823151	11	81120											
SV2A	9900	broad.mit.edu	37	chr1	149883495	149883495	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcagccagacctccccagagGaaggctcccaccatcatgcc	8	18	2	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr1:149883495G>T	uc001etg.2	-	3	1151	c.660C>A	c.(658-660)TTC>TTA	p.F220L	SV2A_uc001eth.2_Missense_Mutation_p.F220L	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	220	Helical; (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CTCCCCAGAGGAAGGCTCCCA	0.582													T	149883495	G	T	149883495	3	4	148	1	0	0	0	0	1	0	0	0	15414	1165	41	5	1612	5	SV2A	1	149883495	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	46456025	149883495	99367126	12	81121											
LCE1B	353132	broad.mit.edu	37	chr1	152785212	152785212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagctctggctgctgcaGccagccctccgggggctcca	13	17	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr1:152785212G>A	uc001faq.2	+	1	766	c.290G>A	c.(289-291)AGC>AAC	p.S97N		NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	97	Gly-rich.				keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCTGCTGCAGCCAGCCCTCC	0.647													A	152785212	G	A	152785212	3	1	148	1	0	0	0	0	1	0	0	0	8660	971	34	2	292	2	LCE1B	1	152785212	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	2901717	152785212	96465409	13	81122											
TDRD10	126668	broad.mit.edu	37	chr1	154514512	154514512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcccaggtgttggagaagGcttctggtgaaggatttggc	15	7	1	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr1:154514512G>A	uc009wow.2	+	7	1220	c.382G>A	c.(382-384)GCT>ACT	p.A128T	TDRD10_uc001ffd.2_Missense_Mutation_p.A128T|TDRD10_uc001ffe.2_Missense_Mutation_p.A49T	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	tudor domain containing 10 isoform a	128							nucleotide binding|RNA binding			ovary(1)	1	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTTGGAGAAGGCTTCTGGTGA	0.498													A	154514512	G	A	154514512	3	1	148	1	0	0	0	0	1	0	0	0	15728	1203	42	2	404	2	TDRD10	1	154514512	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	1729300	154514512	94736109	14	81123											
LRRN2	10446	broad.mit.edu	37	chr1	204588977	204588977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtccacagtggtagcctcGcggtaggacgagcggggcgt	17	11	0	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr1:204588977G>A	uc001hbe.1	-	3	532	c.144C>T	c.(142-144)CGC>CGT	p.R48R	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Silent_p.R48R|LRRN2_uc009xbf.1_Silent_p.R48R|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	48	Extracellular (Potential).|LRRNT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGGTAGCCTCGCGGTAGGACG	0.657													A	204588977	G	A	204588977	2	1	148	1	0	0	0	0	0	0	0	1	9035	1074	38	1		1	LRRN2	1	204588977	Silent	SNP	G	TCGA-CD-8531-01A-11D-2340-08	50074465	204588977	44661644	15	81124											
PTPN14	5784	broad.mit.edu	37	chr1	214576291	214576291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacagcctcttccagggcCaaatcctataagaatagaaa	7	10	1	3			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr1:214576291C>T	uc001hkk.1	-	6	787	c.516G>A	c.(514-516)TTG>TTA	p.L172L	PTPN14_uc010pty.1_Silent_p.L73L	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	172	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTTCCAGGGCCAAATCCTATA	0.502													T	214576291	C	T	214576291	2	4	148	1	0	0	0	0	0	0	0	1	12783	593	21	4		4	PTPN14	1	214576291	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08	9987314	214576291	34674330	16	81125											
LBR	3930	broad.mit.edu	37	chr1	225599126	225599126	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattcacggccaatgaagaaAtcatagacagcatttcctga	7	9	2	4			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr1:225599126A>G	uc001hoy.2	-	9	1244	c.1101T>C	c.(1099-1101)GAT>GAC	p.D367D	LBR_uc001hoz.2_Silent_p.D367D|LBR_uc001hpa.1_Silent_p.D367D	NM_002296	NP_002287	Q14739	LBR_HUMAN	lamin B receptor	367					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			ovary(1)|skin(1)	2	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		CAATGAAGAAATCATAGACAG	0.448													G	225599126	A	G	225599126	2	3	148	1	0	0	0	0	0	0	0	1	8652	98	4	3		3	LBR	1	225599126	Silent	SNP	A	TCGA-CD-8531-01A-11D-2340-08	11022835	225599126	23651495	17	81126											
ITPKB	3707	broad.mit.edu	37	chr1	226924473	226924474	+	Frame_Shift_Ins	INS	-	-	CTGCGAGGAG													gtggcattcctttcttcaccINStgcgaggagcataggctggg							TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr1:226924472_226924473C>CCTGCGAGGAG	uc010pvo.2	-	1	1027_1028	c.687_688G>CTCCTCGCAGG	c.(685-690)caggtgfs	p.Q229fs	ITPKB_uc001hqh.3_Frame_Shift_Ins_p.Q229fs	NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	229							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CCTTTCTTCACCTGCGAGGAGC	0.604													CTGCGAGGAG	226924474	-	CTGCGAGGAG	226924473	7	5	148	1	0	1	1	0	0	0	0	0	7918	680	24	0	2181	0	ITPKB	1	226924473	Frame_Shift_Ins	INS	-	TCGA-CD-8531-01A-11D-2340-08	1325347	226924473	22326148	18	81127											
OBSCN	84033	broad.mit.edu	37	chr1	228437876	228437876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcagcaggcatgccaggCggacaccggggagtatagct	17	10	0	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr1:228437876C>T	uc009xez.1	+	14	4288	c.4244C>T	c.(4243-4245)GCG>GTG	p.A1415V	OBSCN_uc001hsn.2_Missense_Mutation_p.A1415V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1415	Ig-like 14.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCATGCCAGGCGGACACCGGG	0.647													T	228437876	C	T	228437876	3	4	148	1	0	0	0	0	1	0	0	0	10812	768	27	1	4294	1	OBSCN	1	228437876	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	1513403	228437876	20812745	19	81128											
C1orf101	257044	broad.mit.edu	37	chr1	244662322	244662322	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttatcactgtgtgggcaTatgatccagaaagtgcagat	11	7	1	3			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr1:244662322T>C	uc001iam.2	+	7	429	c.370T>C	c.(370-372)TAT>CAT	p.Y124H	C1orf101_uc001iak.1_Intron|C1orf101_uc001ial.2_Missense_Mutation_p.Y124H|C1orf101_uc010pym.1_Intron|C1orf101_uc010pyn.1_Intron	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	hypothetical protein LOC257044 isoform 1	124	Extracellular (Potential).					integral to membrane				ovary(1)|breast(1)	2	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TGTGTGGGCATATGATCCAGA	0.343													C	244662322	T	C	244662322	3	2	148	1	0	0	0	0	1	0	0	0	1976	1406	49	3	396	3	C1orf101	1	244662322	Missense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08	16224446	244662322	4588299	20	81129											
C2orf39	92749	broad.mit.edu	37	chr2	26678055	26678055	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaacagttctctggagcagcAgaacacagagctgcaggcgc	12	11	1	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr2:26678055A>T	uc002rhg.2	+	16	2194	c.2120A>T	c.(2119-2121)CAG>CTG	p.Q707L		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	707	Potential.										0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGAGCAGCAGAACACAGAG	0.597													T	26678055	A	T	26678055	3	4	148	1	0	0	0	0	1	0	0	0	2164	188	7	5	2182	5	C2orf39	2	26678055	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08		26678055	216521318	21	81130											
NRBP1	29959	broad.mit.edu	37	chr2	27656863	27656863	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttgctttcaggaaaaggTtcgtgctgtgtttgataatc	10	8	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr2:27656863T>G	uc002rko.2	+	5	1173	c.341T>G	c.(340-342)GTT>GGT	p.V114G	NRBP1_uc002rkq.2_Missense_Mutation_p.V114G|NRBP1_uc002rkp.2_Missense_Mutation_p.V114G|NRBP1_uc002rkr.2_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein	114	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			ovary(2)|lung(1)	3	Acute lymphoblastic leukemia(172;0.155)					CAGGAAAAGGTTCGTGCTGTG	0.403													G	27656863	T	G	27656863	3	3	148	1	0	0	0	0	1	0	0	0	10642	1725	60	5	351	5	NRBP1	2	27656863	Missense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08	978808	27656863	215542510	22	81131											
ALK	238	broad.mit.edu	37	chr2	30142909	30142909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggaggcgcgaattgccGcggacagccttccctctctg	14	14	1	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr2:30142909G>A	uc002rmy.2	-	1	1524	c.617C>T	c.(616-618)GCG>GTG	p.A206V		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	206	Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCGAATTGCCGCGGACAGCCT	0.602			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				A	30142909	G	A	30142909	3	1	148	1	0	0	0	0	1	0	0	0	525	1087	38	1	4361	1	ALK	2	30142909	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	2486046	30142909	213056464	23	81132											
BCL11A	53335	broad.mit.edu	37	chr2	60688687	60688687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctggcgctgcccaccaagtCgctggtgccgggttccgggg	17	14	0	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr2:60688687C>T	uc002sae.1	-	4	1588	c.1360G>A	c.(1360-1362)GAC>AAC	p.D454N	BCL11A_uc002sab.2_Missense_Mutation_p.D454N|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.D123N|BCL11A_uc010ypj.1_Missense_Mutation_p.D420N|BCL11A_uc002sad.1_Missense_Mutation_p.D302N|BCL11A_uc002saf.1_Missense_Mutation_p.D420N	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	454					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCCACCAAGTCGCTGGTGCCG	0.572			T	IGH@	B-CLL								T	60688687	C	T	60688687	3	4	148	1	0	0	0	0	1	0	0	0	1363	884	31	1	1257	1	BCL11A	2	60688687	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	30545778	60688687	182510686	24	81133											
PUS10	150962	broad.mit.edu	37	chr2	61188647	61188647	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaatttcaagaacagcgcaTacagcctttggtgagtttgg	10	8	2	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr2:61188647T>C	uc010fci.2	-	10	885	c.825A>G	c.(823-825)GTA>GTG	p.V275V	PUS10_uc002sao.2_Silent_p.V275V|PUS10_uc010ypk.1_Silent_p.V52V	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	275					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			ovary(2)|large_intestine(1)|kidney(1)	4			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			GAACAGCGCATACAGCCTTTG	0.353													C	61188647	T	C	61188647	2	2	148	1	0	0	0	0	0	0	0	1	12831	1393	49	3		3	PUS10	2	61188647	Silent	SNP	T	TCGA-CD-8531-01A-11D-2340-08	499960	61188647	182010726	25	81134											
TMEM127	55654	broad.mit.edu	37	chr2	96920726	96920726	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcactgtctggggattcAtgcagaaatctgtagaggga	14	7	3	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr2:96920726A>G	uc002svq.2	-	3	511	c.254T>C	c.(253-255)ATG>ACG	p.M85T	TMEM127_uc002svr.2_Missense_Mutation_p.M85T	NM_017849	NP_060319	O75204	TM127_HUMAN	transmembrane protein 127	85					negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane					0						CTGGGGATTCATGCAGAAATC	0.542									Pheochromocytoma_(Adrenal)_Familial				G	96920726	A	G	96920726	3	3	148	1	0	0	0	0	1	0	0	0	16037	217	8	3	470	3	TMEM127	2	96920726	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	35732079	96920726	146278647	26	81135											
SNRNP200	23020	broad.mit.edu	37	chr2	96949033	96949033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcgtttccttgagcgtGctgtcacttagcttctccag	10	12	2	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr2:96949033G>A	uc002svu.2	-	34	4907	c.4821C>T	c.(4819-4821)AGC>AGT	p.S1607S	SNRNP200_uc002svt.2_Silent_p.S217S|SNRNP200_uc010yuj.1_RNA|SNRNP200_uc002svv.1_Silent_p.S134S	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1607	Helicase C-terminal 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						CCTTGAGCGTGCTGTCACTTA	0.562													A	96949033	G	A	96949033	2	1	148	1	0	0	0	0	0	0	0	1	14852	1310	46	2		2	SNRNP200	2	96949033	Silent	SNP	G	TCGA-CD-8531-01A-11D-2340-08	28307	96949033	146250340	27	81136											
RALB	5899	broad.mit.edu	37	chr2	121043489	121043489	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaccaaagctgacagttatAgaaagaaagtggttcttgat	9	6	1	4			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr2:121043489A>G	uc002tmk.2	+	3	344	c.154A>G	c.(154-156)AGA>GGA	p.R52G	RALB_uc010yys.1_Missense_Mutation_p.R74G|RALB_uc002tml.2_Missense_Mutation_p.R73G|RALB_uc002tmm.2_Intron|RALB_uc010yyt.1_Intron	NM_002881	NP_002872	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	52					apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding			lung(3)	3		Prostate(154;0.122)				TGACAGTTATAGAAAGAAAGT	0.403													G	121043489	A	G	121043489	3	3	148	1	0	0	0	0	1	0	0	0	13011	412	15	3	160	3	RALB	2	121043489	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	24094456	121043489	122155884	28	81137											
CCDC115	84317	broad.mit.edu	37	chr2	131099517	131099517	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttggcgagcgagagccagcCctgcagggagaggaaagcgg	18	10	0	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr2:131099517C>A	uc002tqy.1	-	2	336	c.112G>T	c.(112-114)GGC>TGC	p.G38C	CCDC115_uc002tqw.1_Missense_Mutation_p.G30C|CCDC115_uc010zaf.1_Missense_Mutation_p.G33C|CCDC115_uc002tqx.2_Missense_Mutation_p.G33C|CCDC115_uc002tqz.1_Missense_Mutation_p.G38C|IMP4_uc002tra.1_5'Flank	NM_032357	NP_115733	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	38						endosome|lysosome					0	Colorectal(110;0.1)					GAGAGCCAGCCCTGCAGGGAG	0.672													A	131099517	C	A	131099517	3	1	148	1	0	0	0	0	1	0	0	0	2752	637	22	5	446	5	CCDC115	2	131099517	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	10056028	131099517	112099856	29	81138											
GPR39	2863	broad.mit.edu	37	chr2	133174980	133174980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggcctgcagctacgctaCgctgctgcacgtgctgacac	12	15	0	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr2:133174980C>T	uc002ttl.2	+	1	834	c.365C>T	c.(364-366)ACG>ATG	p.T122M		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	122	Helical; Name=3; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						AGCTACGCTACGCTGCTGCAC	0.572													T	133174980	C	T	133174980	3	4	148	1	0	0	0	0	1	0	0	0	6693	536	19	1	367	1	GPR39	2	133174980	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	2075463	133174980	110024393	30	81139											
GTDC1	79712	broad.mit.edu	37	chr2	144764846	144764846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagattttgtttattttcacCatgatgagagcttgaattat	7	5	1	4			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr2:144764846C>T	uc002tvp.2	-	7	1057	c.778G>A	c.(778-780)GGT>AGT	p.G260S	GTDC1_uc002tvo.2_Missense_Mutation_p.G260S|GTDC1_uc002tvq.2_Intron|GTDC1_uc002tvr.2_Missense_Mutation_p.G260S|GTDC1_uc010fnn.2_Missense_Mutation_p.G260S|GTDC1_uc002tvs.2_Missense_Mutation_p.G228S|GTDC1_uc010fno.2_Missense_Mutation_p.G131S|GTDC1_uc002tvt.1_Missense_Mutation_p.G260S	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	260					biosynthetic process		transferase activity, transferring glycosyl groups			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TTATTTTCACCATGATGAGAG	0.408													T	144764846	C	T	144764846	3	4	148	1	0	0	0	0	1	0	0	0	6851	594	21	4	622	4	GTDC1	2	144764846	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	11589866	144764846	98434527	31	81140											
RBM43	375287	broad.mit.edu	37	chr2	152107671	152107671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaatgagctcttttacatGttttgcattgtttggctgag	9	7	2	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr2:152107671G>A	uc002txh.2	-	4	971	c.823C>T	c.(823-825)CAT>TAT	p.H275Y		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	275							nucleotide binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(221;0.131)		TCTTTTACATGTTTTGCATTG	0.348													A	152107671	G	A	152107671	3	1	148	1	0	0	0	0	1	0	0	0	13137	1377	48	4	254	4	RBM43	2	152107671	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	7342825	152107671	91091702	32	81141											
ZAK	51776	broad.mit.edu	37	chr2	174047623	174047623	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctatgattacattaacagtAacagaagtgaggagatggat	10	4	1	4			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr2:174047623A>T	uc002uhz.2	+	4	489	c.289A>T	c.(289-291)AAC>TAC	p.N97Y	ZAK_uc002uhx.2_Missense_Mutation_p.N97Y|ZAK_uc002uhy.2_Missense_Mutation_p.N97Y|ZAK_uc010zei.1_5'UTR|ZAK_uc002uia.1_Missense_Mutation_p.N97Y	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	97	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)			CATTAACAGTAACAGAAGTGA	0.323													T	174047623	A	T	174047623	3	4	148	1	0	0	0	0	1	0	0	0	17509	362	13	5	299	5	ZAK	2	174047623	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	21939952	174047623	69151750	33	81142											
ATF2	1386	broad.mit.edu	37	chr2	175976308	175976308	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcttaccatttttgcttcTgactgtactggttggggaga	12	7	1	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr2:175976308T>C	uc002ujl.2	-	10	1078	c.816A>G	c.(814-816)TCA>TCG	p.S272S	ATF2_uc010fqv.2_Silent_p.S223S|ATF2_uc002ujv.2_Silent_p.S19S|ATF2_uc002ujm.2_Silent_p.S214S|ATF2_uc002ujn.2_RNA|ATF2_uc002ujo.2_Intron|ATF2_uc002ujp.2_RNA|ATF2_uc002ujq.2_Silent_p.S272S|ATF2_uc002ujr.2_RNA|ATF2_uc010fqu.2_Silent_p.S254S|ATF2_uc002ujs.2_Silent_p.S214S|ATF2_uc002ujt.2_RNA|ATF2_uc002uju.2_RNA|ATF2_uc002ujw.1_Silent_p.S214S|ATF2_uc002ujx.1_RNA	NM_001880	NP_001871	P15336	ATF2_HUMAN	activating transcription factor 2	272					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(1)|breast(1)|pancreas(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.125)			TTTTTGCTTCTGACTGTACTG	0.408													C	175976308	T	C	175976308	2	2	148	1	0	0	0	0	0	0	0	1	1080	1567	55	3		3	ATF2	2	175976308	Silent	SNP	T	TCGA-CD-8531-01A-11D-2340-08	1928685	175976308	67223065	34	81143											
TTN	7273	broad.mit.edu	37	chr2	179396580	179396583	+	Frame_Shift_Del	DEL	TGAG	TGAG	-													acttcctttctgatgtcttcTgagtttttaaagcagctttc							TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr2:179396579_179396582CTGAG>C	uc021vsy.1	-	306	97281_97284	c.97056_97059CTCAG>G	c.(97054-97059)actcagfs	p.T32352fs	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.T26047fs|TTN_uc021vta.1_Frame_Shift_Del_p.T25980fs|TTN_uc021vtb.1_Frame_Shift_Del_p.T25855fs|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33279	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGATGTCTTCTGAGTTTTTAAAG	0.461													-	179396583	TGAG	-	179396580	7	5	148	1	0	1	0	1	0	0	0	0	16732	1580	55	0	3237	0	TTN	2	179396580	Frame_Shift_Del	DEL	TGAG	TCGA-CD-8531-01A-11D-2340-08	3420272	179396580	63802793	35	81144											
TTN	7273	broad.mit.edu	37	chr2	179407894	179407894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaataagtattgttcacctTcatttaaggaagtaacagtg	7	5	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr2:179407894T>C	uc010zfg.1	-	296	89326	c.89102A>G	c.(89101-89103)GAA>GGA	p.E29701G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E23396G|TTN_uc010zfi.1_Missense_Mutation_p.E23329G|TTN_uc010zfj.1_Missense_Mutation_p.E23204G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30628							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTTCACCTTCATTTAAGGA	0.448													C	179407894	T	C	179407894	3	2	148	1	0	0	0	0	1	0	0	0	16732	1783	62	3	11237	3	TTN	2	179407894	Missense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08	11314	179407894	63791479	36	81145											
IHH	3549	broad.mit.edu	37	chr2	219920533	219920533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgcgccccactctccaggCgtacctgggctccggcaggg	13	18	1	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr2:219920533C>T	uc002vjo.1	-	3	632	c.632G>A	c.(631-633)CGC>CAC	p.R211H		NM_002181	NP_002172	Q14623	IHH_HUMAN	Indian hedgehog homolog precursor	211					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)	1		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTCTCCAGGCGTACCTGGGC	0.667													T	219920533	C	T	219920533	3	4	148	1	0	0	0	0	1	0	0	0	7607	768	27	1	607	1	IHH	2	219920533	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	40512639	219920533	23278840	37	81146											
CAPN10	11132	broad.mit.edu	37	chr2	241530408	241530408	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgttctggctccccttActggaaaaggtctacgccaa	10	11	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr2:241530408A>G	uc002vzk.1	+	3	634	c.450A>G	c.(448-450)TTA>TTG	p.L150L	CAPN10_uc010zoh.1_Silent_p.L150L|CAPN10_uc002vzl.1_Silent_p.L150L|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Missense_Mutation_p.Y26C|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10 isoform a	150	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			ovary(3)|large_intestine(2)|lung(1)	6		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGCTCCCCTTACTGGAAAAGG	0.642													G	241530408	A	G	241530408	2	3	148	1	0	0	0	0	0	0	0	1	2623	388	14	3		3	CAPN10	2	241530408	Silent	SNP	A	TCGA-CD-8531-01A-11D-2340-08	21609875	241530408	1668965	38	81147											
CNTN4	152330	broad.mit.edu	37	chr3	3095653	3095653	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaaattcgaattccaaagAtatcaagtgagaatgccttt	6	7	1	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr3:3095653A>G	uc003bpc.2	+	23	3195	c.2974A>G	c.(2974-2976)ATA>GTA	p.I992V	CNTN4_uc003bpe.2_Missense_Mutation_p.I664V|CNTN4_uc003bpf.2_Missense_Mutation_p.I663V|CNTN4_uc003bpg.2_Missense_Mutation_p.I248V	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	992					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AATTCCAAAGATATCAAGTGA	0.418													G	3095653	A	G	3095653	3	3	148	1	0	0	0	0	1	0	0	0	3643	333	12	3	3056	3	CNTN4	3	3095653	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08		3095653	194926777	39	81148											
TGFBR2	7048	broad.mit.edu	37	chr3	30713931	30713931	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggctaacagtgggcaggTaagttagagctagtgctaga	14	7	0	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr3:30713931T>G	uc003ceo.2	+	4	1636	c.1254_splice	c.e4+2	p.Q418_splice	TGFBR2_uc003cen.2_Splice_Site_p.Q443_splice	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II						activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						AGTGGGCAGGTAAGTTAGAGC	0.527													G	30713931	T	G	30713931	5	3	148	1	0	0	0	0	0	0	1	0	15819	1652	57	5	1349	5	TGFBR2	3	30713931	Splice_Site	SNP	T	TCGA-CD-8531-01A-11D-2340-08	27618278	30713931	167308499	40	81149											
IFT122	55764	broad.mit.edu	37	chr3	129231237	129231237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctgcccaaggacacccCctcgggcatctctaaagtgt	9	16	1	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr3:129231237C>T	uc003emm.2	+	24	3175	c.2969C>T	c.(2968-2970)CCC>CTC	p.P990L	IFT122_uc003eml.2_Missense_Mutation_p.P1041L|IFT122_uc003emn.2_Missense_Mutation_p.P931L|IFT122_uc003emo.2_Missense_Mutation_p.P880L|IFT122_uc003emp.2_Missense_Mutation_p.P840L|IFT122_uc010htc.2_Missense_Mutation_p.P983L|IFT122_uc011bky.1_Missense_Mutation_p.P781L|IFT122_uc003emq.2_Missense_Mutation_p.P830L|IFT122_uc003emr.2_Missense_Mutation_p.P743L|IFT122_uc011bla.1_Missense_Mutation_p.P764L|IFT122_uc010hte.2_Missense_Mutation_p.P316L|IFT122_uc003ems.2_Missense_Mutation_p.P372L|IFT122_uc011bkx.1_Missense_Mutation_p.P831L	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	990					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						AAGGACACCCCCTCGGGCATC	0.517													T	129231237	C	T	129231237	3	4	148	1	0	0	0	0	1	0	0	0	7555	623	22	4	3223	4	IFT122	3	129231237	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	98517306	129231237	68791193	41	81150											
PIK3R4	30849	broad.mit.edu	37	chr3	130424447	130424451	+	Frame_Shift_Del	DEL	TCTGC	TCTGC	-													ccattcagcattttccatcaTctgcttagctattctctcag							TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr3:130424447_130424451delTCTGC	uc003enj.2	-	12	3467_3471	c.2886_2890delGCAGA	c.(2884-2892)AAGCAGATGfs	p.K962fs		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	962_964					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						TTTTCCATCATCTGCTTAGCTATTC	0.424													-	130424451	TCTGC	-	130424447	7	5	148	1	0	1	0	1	0	0	0	0	11921	1435	50	0	1222	0	PIK3R4	3	130424447	Frame_Shift_Del	DEL	TCTGC	TCGA-CD-8531-01A-11D-2340-08	1193210	130424447	67597983	42	81151											
SIAH2	6478	broad.mit.edu	37	chr3	150480426	150480427	+	Missense_Mutation	DNP	GC	GC	CA													gagcgaggtcagctcgtggtGctgcggggacaccgggccgg							TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr3:150480426_150480427GC>CA	uc003eyi.2	-	1	837_838	c.210_211GC>TG	c.(208-213)CAGCAC>CATGAC	p.70_71QH>HD		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	70_71					apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGCTCGTGGTGCTGCGGGGACA	0.559													CA	150480427	GC	CA	150480426	3	2	148	1	0	0	0	0	1	0	0	0	14300	1319	46	5	771	5	SIAH2	3	150480426	Missense_Mutation	DNP	GC	TCGA-CD-8531-01A-11D-2340-08	20055979	150480426	47542004	43	81152											
PIGZ	80235	broad.mit.edu	37	chr3	196674283	196674283	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcttttcagggtttggcaCagggcccagtcctcagtccc	11	13	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr3:196674283C>T	uc003fxh.2	-	3	1632	c.1485G>A	c.(1483-1485)CTG>CTA	p.L495L		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	495					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			ovary(3)	3	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GGGTTTGGCACAGGGCCCAGT	0.647													T	196674283	C	T	196674283	2	4	148	1	0	0	0	0	0	0	0	1	11905	465	17	4		4	PIGZ	3	196674283	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08	46193857	196674283	1348147	44	81153											
PDS5A	23244	broad.mit.edu	37	chr4	39904078	39904078	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaagattttctctaccaacAgtctaggaaataacaacaac	4	10	2	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr4:39904078A>T	uc003guv.3	-	13	1928	c.1388T>A	c.(1387-1389)CTG>CAG	p.L463Q	PDS5A_uc010ifo.2_Missense_Mutation_p.L423Q|PDS5A_uc003guw.3_Missense_Mutation_p.L463Q	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	463					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						CTCTACCAACAGTCTAGGAAA	0.279													T	39904078	A	T	39904078	3	4	148	1	0	0	0	0	1	0	0	0	11691	188	7	5	2742	5	PDS5A	4	39904078	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08		39904078	151250198	45	81154											
PHOX2B	8929	broad.mit.edu	37	chr4	41748140	41748140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgccgccgcctccattcGccccgcagctgggggtgggg	16	18	0	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr4:41748140G>A	uc003gwf.3	-	3	989	c.629C>T	c.(628-630)GCG>GTG	p.A210V		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	210					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1)	12						gccTCCATTCGCCCCGCAGCT	0.408			Mis|F		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				A	41748140	G	A	41748140	3	1	148	1	0	0	0	0	1	0	0	0	11859	1087	38	1	319	1	PHOX2B	4	41748140	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	1844062	41748140	149406136	46	81155											
LPHN3	23284	broad.mit.edu	37	chr4	62775347	62775347	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacaagaaatcacttgaatGctggggacatcacctactct	8	10	3	3			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr4:62775347G>T	uc010ihh.2	+	9	1926	c.1753G>T	c.(1753-1755)GCT>TCT	p.A585S	LPHN3_uc003hcq.3_Missense_Mutation_p.A585S|LPHN3_uc003hct.2_5'UTR|LPHN3_uc003hcs.1_Missense_Mutation_p.A414S	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	585	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						TCACTTGAATGCTGGGGACAT	0.468													T	62775347	G	T	62775347	3	4	148	1	0	0	0	0	1	0	0	0	8917	1319	46	5	1787	5	LPHN3	4	62775347	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	21027207	62775347	128378929	47	81156											
FRAS1	80144	broad.mit.edu	37	chr4	79402981	79402981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtaaagattccagttatcCgccatggtactgacctctct	7	12	1	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr4:79402981C>T	uc003hlb.2	+	57	8907	c.8467C>T	c.(8467-8469)CGC>TGC	p.R2823C		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2818	Calx-beta 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TCCAGTTATCCGCCATGGTAC	0.473													T	79402981	C	T	79402981	3	4	148	1	0	0	0	0	1	0	0	0	6042	652	23	1	8768	1	FRAS1	4	79402981	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	16627634	79402981	111751295	48	81157											
DSPP	1834	broad.mit.edu	37	chr4	88534064	88534064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgctggcctggataattcCgatgggagtcctagtgggaa	15	7	0	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr4:88534064C>T	uc003hqu.2	+	4	846	c.726C>T	c.(724-726)TCC>TCT	p.S242S		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein preproprotein	242					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			central_nervous_system(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TGGATAATTCCGATGGGAGTC	0.458													T	88534064	C	T	88534064	2	4	148	1	0	0	0	0	0	0	0	1	4782	639	23	1		1	DSPP	4	88534064	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08	9131083	88534064	102620212	49	81158											
FAM190A	401145	broad.mit.edu	37	chr4	91549260	91549260	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcccaacagtccatctgcGgattggcctctacaaggtgt	10	12	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr4:91549260G>A	uc003hsv.3	+	6	2149	c.1809G>A	c.(1807-1809)GCG>GCA	p.A603A	FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Silent_p.A603A	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	KIAA1680 protein isoform 1	603										large_intestine(1)|ovary(1)	2						GTCCATCTGCGGATTGGCCTC	0.443													A	91549260	G	A	91549260	2	1	148	1	0	0	0	0	0	0	0	1	5521	1103	39	1		1	FAM190A	4	91549260	Silent	SNP	G	TCGA-CD-8531-01A-11D-2340-08	3015196	91549260	99605016	50	81159											
NFKB1	4790	broad.mit.edu	37	chr4	103517342	103517342	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accctgaaggttgtgacaaaAgtgatgacaaaaacactgta	9	7	0	4			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr4:103517342A>C	uc011ceq.1	+	14	1812	c.1345A>C	c.(1345-1347)AGT>CGT	p.S449R	NFKB1_uc011cep.1_Missense_Mutation_p.S450R|NFKB1_uc011cer.1_Missense_Mutation_p.S269R	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	449	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	TTGTGACAAAAGTGATGACAA	0.408													C	103517342	A	C	103517342	3	2	148	1	0	0	0	0	1	0	0	0	10375	72	3	5	1398	5	NFKB1	4	103517342	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	11968082	103517342	87636934	51	81160											
EGF	1950	broad.mit.edu	37	chr4	110915908	110915908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactctactccaccccctcaCctcagggaagatgaccacca	6	18	3	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr4:110915908C>T	uc003hzy.3	+	20	3329	c.2877C>T	c.(2875-2877)CAC>CAT	p.H959H	EGF_uc011cfu.1_Silent_p.H917H|EGF_uc011cfv.1_Silent_p.H918H|EGF_uc010imk.2_Silent_p.H107H	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	959	Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CACCCCCTCACCTCAGGGAAG	0.433													T	110915908	C	T	110915908	2	4	148	1	0	0	0	0	0	0	0	1	4962	506	18	4		4	EGF	4	110915908	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08	7398566	110915908	80238368	52	81161											
ANK2	287	broad.mit.edu	37	chr4	114195727	114195727	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgggtacacaccactgcaCatctctgcccgggagggcca	11	14	1	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr4:114195727C>T	uc003ibe.3	+	15	1705	c.1605C>T	c.(1603-1605)CAC>CAT	p.H535H	ANK2_uc003ibd.3_Silent_p.H514H|ANK2_uc003ibf.3_Silent_p.H535H|ANK2_uc003ibc.2_Silent_p.H511H|ANK2_uc011cgb.1_Silent_p.H550H	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	535	ANK 16.				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)		CACCACTGCACATCTCTGCCC	0.527													T	114195727	C	T	114195727	2	4	148	1	0	0	0	0	0	0	0	1	621	477	17	4		4	ANK2	4	114195727	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08	3279819	114195727	76958549	53	81162											
ANKRD50	57182	broad.mit.edu	37	chr4	125592169	125592169	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacatgtccttcataggcagCtaccagcagtggagtcatgc	10	11	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr4:125592169C>A	uc003ifg.3	-	3	2529	c.2263G>T	c.(2263-2265)GCT>TCT	p.A755S	ANKRD50_uc011cgo.1_Missense_Mutation_p.A576S|ANKRD50_uc010inw.2_Missense_Mutation_p.A755S	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	755	ANK 9.									central_nervous_system(1)	1						TCATAGGCAGCTACCAGCAGT	0.473													A	125592169	C	A	125592169	3	1	148	1	0	0	0	0	1	0	0	0	677	797	28	5	2030	5	ANKRD50	4	125592169	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	11396442	125592169	65562107	54	81163											
FAT4	79633	broad.mit.edu	37	chr4	126241663	126241663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacggaacttttagcattaGcccaaacactgggagtattt	8	10	0	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr4:126241663G>A	uc003ifj.3	+	1	4097	c.4097G>A	c.(4096-4098)AGC>AAC	p.S1366N		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1366	Cadherin 13.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TTTAGCATTAGCCCAAACACT	0.383													A	126241663	G	A	126241663	3	1	148	1	0	0	0	0	1	0	0	0	5692	971	34	2	4099	2	FAT4	4	126241663	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	649494	126241663	64912613	55	81164											
FAT4	79633	broad.mit.edu	37	chr4	126370525	126370525	+	Frame_Shift_Del	DEL	C	C	-													tgcccatgttcctgaaaattCccccttaggatacacagtta							TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr4:126370524_126370524TC>T	uc003ifj.4	+	8	8353	c.8353_8353TC>T	c.(8353-8355)tccfs	p.S2785fs	FAT4_uc011cgp.2_Frame_Shift_Del_p.S1083fs|FAT4_uc003ifi.1_Frame_Shift_Del_p.S263fs	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2785	Cadherin 27.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCTGAAAATTCCCCCTTAGG	0.368													-	126370525	C	-	126370525	7	5	148	1	0	1	0	1	0	0	0	0	5692	855	30	0	8388	0	FAT4	4	126370525	Frame_Shift_Del	DEL	C	TCGA-CD-8531-01A-11D-2340-08	128862	126370525	64783751	56	81165											
FAT4	79633	broad.mit.edu	37	chr4	126412365	126412365	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaagtggagaggctcaaCacacctcgccctagaaaccc	10	13	1	3			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr4:126412365C>T	uc003ifj.3	+	17	14388	c.14388C>T	c.(14386-14388)AAC>AAT	p.N4796N	FAT4_uc011cgp.1_Silent_p.N3037N|FAT4_uc003ifi.1_Silent_p.N2273N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4796	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AGAGGCTCAACACACCTCGCC	0.522													T	126412365	C	T	126412365	2	4	148	1	0	0	0	0	0	0	0	1	5692	477	17	4		4	FAT4	4	126412365	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08	41840	126412365	64741911	57	81166											
PCDH10	57575	broad.mit.edu	37	chr4	134072395	134072395	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccgtgaaggaagcggTgagtgagggcgcggcgcccg	19	11	0	3	rs146215385		TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr4:134072395T>C	uc003iha.2	+	1	1926	c.1100T>C	c.(1099-1101)GTG>GCG	p.V367A	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.V367A	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	367	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		AAGGAAGCGGTGAGTGAGGGC	0.632													C	134072395	T	C	134072395	3	2	148	1	0	0	0	0	1	0	0	0	11507	1696	59	3	1102	3	PCDH10	4	134072395	Missense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08	7660030	134072395	57081881	58	81167											
PCDH10	57575	broad.mit.edu	37	chr4	134073610	134073610	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggaggttcgacctgctgtgGccgccaagcccgggcgcgca	16	15	0	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr4:134073610G>C	uc003iha.2	+	1	3141	c.2315G>C	c.(2314-2316)GGC>GCC	p.G772A	PCDH10_uc003igz.2_Missense_Mutation_p.G772A	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	772	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		ACCTGCTGTGGCCGCCAAGCC	0.582													C	134073610	G	C	134073610	3	2	148	1	0	0	0	0	1	0	0	0	11507	1203	42	5	2317	5	PCDH10	4	134073610	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	1215	134073610	57080666	59	81168											
POU4F2	5458	broad.mit.edu	37	chr4	147561803	147561803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcgctgcgccagagaagcGctcgctcgaagcctactttg	11	14	0	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr4:147561803G>A	uc003ikv.2	+	2	1321	c.1073G>A	c.(1072-1074)CGC>CAC	p.R358H		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	358	Homeobox.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)	1	all_hematologic(180;0.151)					CCAGAGAAGCGCTCGCTCGAA	0.607													A	147561803	G	A	147561803	3	1	148	1	0	0	0	0	1	0	0	0	12279	1087	38	1	1079	1	POU4F2	4	147561803	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	13488193	147561803	43592473	60	81169											
WDR17	116966	broad.mit.edu	37	chr4	177081171	177081171	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaattaatccaggaagAtaaggatgatgtcattccat	8	7	1	3			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr4:177081171A>G	uc003iuj.2	+	20	2780	c.2624A>G	c.(2623-2625)GAT>GGT	p.D875G	WDR17_uc003iuk.2_Missense_Mutation_p.D851G|WDR17_uc003ium.3_Missense_Mutation_p.D851G|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.D94G	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	875										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		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;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATCCAGGAAGATAAGGATGAT	0.333													G	177081171	A	G	177081171	3	3	148	1	0	0	0	0	1	0	0	0	17274	333	12	3	2698	3	WDR17	4	177081171	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	29519368	177081171	14073105	61	81170											
WDR17	116966	broad.mit.edu	37	chr4	177081215	177081215	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatagccattggtgatgtgAaaaagctagtccattttttc	9	7	0	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr4:177081215A>C	uc003iuj.2	+	20	2824	c.2668A>C	c.(2668-2670)AAA>CAA	p.K890Q	WDR17_uc003iuk.2_Missense_Mutation_p.K866Q|WDR17_uc003ium.3_Missense_Mutation_p.K866Q|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.K109Q	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	890										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		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;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGGTGATGTGAAAAAGCTAGT	0.383													C	177081215	A	C	177081215	3	2	148	1	0	0	0	0	1	0	0	0	17274	247	9	5	2742	5	WDR17	4	177081215	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	44	177081215	14073061	62	81171											
ODZ3	55714	broad.mit.edu	37	chr4	183672997	183672997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgcaacggatccagtcaCgggagatctgtacgtttctg	11	11	3	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr4:183672997C>T	uc003ivd.1	+	19	3711	c.3674C>T	c.(3673-3675)ACG>ATG	p.T1225M	ODZ3_uc003ive.1_Missense_Mutation_p.T638M	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1225	Extracellular (Potential).|NHL 1.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GATCCAGTCACGGGAGATCTG	0.458													T	183672997	C	T	183672997	3	4	148	1	0	0	0	0	1	0	0	0	10836	536	19	1	3748	1	ODZ3	4	183672997	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	6591782	183672997	7481279	63	81172											
CDH18	1016	broad.mit.edu	37	chr5	19721471	19721471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaacctgttttagggtcgaCggagaagtagggttgtcctt	13	7	0	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr5:19721471C>T	uc003jgc.2	-	4	1005	c.628G>A	c.(628-630)GTC>ATC	p.V210I	CDH18_uc003jgd.2_Missense_Mutation_p.V210I|CDH18_uc011cnm.1_Missense_Mutation_p.V210I	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	210	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTAGGGTCGACGGAGAAGTAG	0.448													T	19721471	C	T	19721471	3	4	148	1	0	0	0	0	1	0	0	0	3103	536	19	1	1780	1	CDH18	5	19721471	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08		19721471	161193789	64	81173											
ZMAT2	153527	broad.mit.edu	37	chr5	140081626	140081626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcaagcgagagcttttaCggcatagggactacaaggtg	13	8	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr5:140081626C>T	uc003lgy.1	+	3	162	c.148C>T	c.(148-150)CGG>TGG	p.R50W		NM_144723	NP_653324	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin type 2	50						nucleus	DNA binding|zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCTTTTACGGCATAGGGA	0.443													T	140081626	C	T	140081626	3	4	148	1	0	0	0	0	1	0	0	0	17689	527	19	1	158	1	ZMAT2	5	140081626	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	120360155	140081626	40833634	65	81174											
PCDHA11	56138	broad.mit.edu	37	chr5	140250985	140250985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggagggcccacctaagaCggacctcatggccttcagcc	12	14	2	2	rs146613275	by1000genomes	TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr5:140250985C>T	uc003lia.2	+	1	3155	c.2297C>T	c.(2296-2298)ACG>ATG	p.T766M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.T766M	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	766	Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTAAGACGGACCTCATG	0.627													T	140250985	C	T	140250985	3	4	148	1	0	0	0	0	1	0	0	0	11521	536	19	1	2299	1	PCDHA11	5	140250985	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	169359	140250985	40664275	66	81175											
FAT2	2196	broad.mit.edu	37	chr5	150885490	150885490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgttttccatctccaggGggaaggggaagcccccatag	13	11	1	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr5:150885490G>A	uc003lue.3	-	23	12699	c.12686C>T	c.(12685-12687)CCC>CTC	p.P4229L	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.P836L	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	4229	Cytoplasmic (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATCTCCAGGGGGAAGGGGAA	0.642													A	150885490	G	A	150885490	3	1	148	1	0	0	0	0	1	0	0	0	5690	1232	43	4	367	4	FAT2	5	150885490	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	10634505	150885490	30029770	67	81176											
ATP10B	23120	broad.mit.edu	37	chr5	160047922	160047922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaatcttctccagggaCgtccccagagccttgcttga	10	13	2	3			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr5:160047922C>T	uc003lym.1	-	15	2695	c.1848G>A	c.(1846-1848)ACG>ACA	p.T616T	ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Silent_p.T174T	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	616	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTCCAGGGACGTCCCCAGAG	0.483													T	160047922	C	T	160047922	2	4	148	1	0	0	0	0	0	0	0	1	1117	523	19	1		1	ATP10B	5	160047922	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08	9162432	160047922	20867338	68	81177											
HMP19	51617	broad.mit.edu	37	chr5	173473785	173473785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgaacagtaaccccagCgagaagggaaccaagccgcc	11	13	0	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr5:173473785C>T	uc003mcx.2	+	2	172	c.27C>T	c.(25-27)AGC>AGT	p.S9S		NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	HMP19 protein	9	Cytoplasmic (Potential).				dopamine receptor signaling pathway	cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GTAACCCCAGCGAGAAGGGAA	0.532													T	173473785	C	T	173473785	2	4	148	1	0	0	0	0	0	0	0	1	7245	767	27	1		1	HMP19	5	173473785	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08	13425863	173473785	7441475	69	81178											
HK3	3101	broad.mit.edu	37	chr5	176314553	176314553	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttccgcatctgtgcctgaAccgcagccagttgatcatgg	10	14	2	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr5:176314553A>C	uc003mfa.2	-	11	1591	c.1499T>G	c.(1498-1500)GTT>GGT	p.V500G	HK3_uc003mez.2_Missense_Mutation_p.V56G	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	500	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTGCCTGAACCGCAGCCAG	0.682													C	176314553	A	C	176314553	3	2	148	1	0	0	0	0	1	0	0	0	7192	43	2	5	1308	5	HK3	5	176314553	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	2840768	176314553	4600707	70	81179											
DBN1	1627	broad.mit.edu	37	chr5	176894259	176894259	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcagggttccataccttGgcctgctcccagaactgctc	10	15	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr5:176894259G>A	uc003mgy.2	-	6	724	c.552C>T	c.(550-552)GCC>GCT	p.A184A	DBN1_uc003mgx.2_Silent_p.A186A|DBN1_uc010jkn.1_Silent_p.A134A|DBN1_uc003mgz.1_Silent_p.A121A	NM_004395	NP_004386	Q16643	DREB_HUMAN	drebrin 1 isoform a	184					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|ovary(1)|lung(1)|skin(1)	6	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCATACCTTGGCCTGCTCCC	0.607													A	176894259	G	A	176894259	2	1	148	1	0	0	0	0	0	0	0	1	4252	1335	47	4		4	DBN1	5	176894259	Silent	SNP	G	TCGA-CD-8531-01A-11D-2340-08	579706	176894259	4021001	71	81180											
NUP153	9972	broad.mit.edu	37	chr6	17629625	17629625	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacccagaatcggatgacacAcctattttgaatcctccctg	7	13	0	3			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr6:17629625A>C	uc003ncd.1	-	18	3005	c.2805T>G	c.(2803-2805)GGT>GGG	p.G935G	NUP153_uc011dje.1_Silent_p.G966G|NUP153_uc010jpl.1_Silent_p.G893G	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	935					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CGGATGACACACCTATTTTGA	0.378													C	17629625	A	C	17629625	2	2	148	1	0	0	0	0	0	0	0	1	10755	146	6	5		5	NUP153	6	17629625	Silent	SNP	A	TCGA-CD-8531-01A-11D-2340-08		17629625	153485442	72	81181											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056223	26056223	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tagcgctcttcttcggagttGcgccgccagccgccttcttg	11	15	3	0	rs141266449		TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr6:26056223G>C	uc003nfw.2	-	1	477	c.434C>G	c.(433-435)GCA>GGA	p.A145G		NM_005319	NP_005310	P16403	H12_HUMAN	histone cluster 1, H1c	145					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)|skin(2)	5						CTTCGGAGTTGCGCCGCCAGC	0.582													C	26056223	G	C	26056223	3	2	148	1	0	0	0	0	1	0	0	0	7124	1319	46	5	211	5	HIST1H1C	6	26056223	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	8426598	26056223	145058844	73	81182			1	39		3	3	102	N	TGCCTTCTTGT_T_G	3.726464e-07
HIST1H1C	3006	broad.mit.edu	37	chr6	26056250	26056250	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagccgccttcttgggcttcTtggctgccccaactggcttc	10	16	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr6:26056250T>A	uc003nfw.2	-	1	450	c.407A>T	c.(406-408)AAG>ATG	p.K136M		NM_005319	NP_005310	P16403	H12_HUMAN	histone cluster 1, H1c	136					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)|skin(2)	5						CTTGGGCTTCTTGGCTGCCCC	0.567													A	26056250	T	A	26056250	3	1	148	1	0	0	0	0	1	0	0	0	7124	1609	56	5	238	5	HIST1H1C	6	26056250	Missense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08	27	26056250	145058817	74	81183			1	39		3	3	102	N	TGCCTTCTTGT_T_G	3.726464e-07
HIST1H1C	3006	broad.mit.edu	37	chr6	26056324	26056334	+	Frame_Shift_Del	DEL	TGCCTTCTTGT	TGCCTTCTTGT	-													ggcttggcttccccggaggcTgccttcttgttgagtttaaa					rs141268909	byFrequency	TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr6:26056324_26056334delTGCCTTCTTGT	uc003nfw.2	-	1	366_376	c.323_333delACAAGAAGGCA	c.(322-333)AACAAGAAGGCAfs	p.N108fs		NM_005319	NP_005310	P16403	H12_HUMAN	histone cluster 1, H1c	108_111					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)|skin(2)	5						CCCCGGAGGCTGCCTTCTTGTTGAGTTTAAA	0.559													-	26056334	TGCCTTCTTGT	-	26056324	7	5	148	1	0	1	0	1	0	0	0	0	7124	1567	55	0	312	0	HIST1H1C	6	26056324	Frame_Shift_Del	DEL	TGCCTTCTTGT	TCGA-CD-8531-01A-11D-2340-08	74	26056324	145058743	75	81184			1	39		3	3	102	N	TGCCTTCTTGT_T_G	3.726464e-07
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114498	27114498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcgcttgcgcttcttgCcgtccttcttctgcgcctta	10	15	3	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr6:27114498C>T	uc003nix.1	-	1	122	c.80G>A	c.(79-81)GGC>GAC	p.G27D	HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank	NM_080593	NP_542160	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	27					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding				0						GCGCTTCTTGCCGTCCTTCTT	0.602													T	27114498	C	T	27114498	3	4	148	1	0	0	0	0	1	0	0	0	7150	739	26	2	304	2	HIST1H2BK	6	27114498	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	1058174	27114498	144000569	76	81185											
HIST1H2AJ	8331	broad.mit.edu	37	chr6	27782505	27782505	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagctttgcctccctgcttaCcacgcccagacatggcaaaa	8	15	0	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr6:27782505C>A	uc003njn.1	-	1	14	c.14G>T	c.(13-15)GGT>GTT	p.G5V	HIST1H2BM_uc003njo.2_5'Flank	NM_021066	NP_066544	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	5					nucleosome assembly	nucleosome|nucleus	DNA binding				0						TCCCTGCTTACCACGCCCAGA	0.537													A	27782505	C	A	27782505	3	1	148	1	0	0	0	0	1	0	0	0	7136	507	18	5	376	5	HIST1H2AJ	6	27782505	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	668007	27782505	143332562	77	81186											
OR2J2	26707	broad.mit.edu	37	chr6	29142227	29142227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaattctcctgatcaggGcaagttcattgccctctttt	7	10	4	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr6:29142227G>A	uc011dlm.1	+	1	917	c.815G>A	c.(814-816)GGC>GAC	p.G272D		NM_030905	NP_112167	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J,	272	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CCTGATCAGGGCAAGTTCATT	0.428													A	29142227	G	A	29142227	3	1	148	1	0	0	0	0	1	0	0	0	11003	1203	42	2	817	2	OR2J2	6	29142227	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	1359722	29142227	141972840	78	81187											
HLA-B	3106	broad.mit.edu	37	chr6	31324659	31324659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgggtgtcgtccacgtagCccactgagatgaagcggggc	15	11	0	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr6:31324659C>T	uc003nth.2	-	2	203	c.149G>A	c.(148-150)GGC>GAC	p.G50D	HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Missense_Mutation_p.G50D|HLA-B_uc003ntg.1_5'Flank|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_5'Flank|HLA-B_uc010jso.2_Missense_Mutation_p.G22D	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	50	Alpha-1.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0						GTCCACGTAGCCCACTGAGAT	0.677									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				T	31324659	C	T	31324659	3	4	148	1	0	0	0	0	1	0	0	0	7196	739	26	2	963	2	HLA-B	6	31324659	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	2182432	31324659	139790408	79	81188											
RDBP	7936	broad.mit.edu	37	chr6	31922644	31922644	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tccatctggtcctagttctcGaagtcgatcactagaagaca	8	11	3	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr6:31922644G>C	uc003nyk.2	-	7	634	c.430C>G	c.(430-432)CGA>GGA	p.R144G	RDBP_uc011dot.1_Intron|RDBP_uc003nyl.1_Missense_Mutation_p.R84G|RDBP_uc003nym.1_Missense_Mutation_p.R139G	NM_002904	NP_002895	P18615	NELFE_HUMAN	RD RNA-binding protein	144					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						CCTAGTTCTCGAAGTCGATCA	0.547													C	31922644	G	C	31922644	3	2	148	1	0	0	0	0	1	0	0	0	13188	1066	37	5	732	5	RDBP	6	31922644	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	597985	31922644	139192423	80	81189											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411705	33411705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcagcggtggcggagggGgtggggggctgaagccctcc	24	9	0	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr6:33411705G>A	uc011dri.1	+	15	3571	c.3376G>A	c.(3376-3378)GGT>AGT	p.G1126S	SYNGAP1_uc010juy.2_Missense_Mutation_p.G1097S|SYNGAP1_uc010juz.2_Missense_Mutation_p.G838S	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1126					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						TGGCGGAGGGGGTGGGGGGCT	0.682													A	33411705	G	A	33411705	3	1	148	1	0	0	0	0	1	0	0	0	15444	1232	43	4	3434	4	SYNGAP1	6	33411705	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	1489061	33411705	137703362	81	81190											
LHFPL5	222662	broad.mit.edu	37	chr6	35773520	35773520	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgtgcggaactcgcgagccGtgggcgtgatgtggggtacc	18	9	0	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr6:35773520G>C	uc003olg.1	+	1	450	c.73G>C	c.(73-75)GTG>CTG	p.V25L		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	25	Helical; (Potential).					integral to membrane				skin(1)	1						CTCGCGAGCCGTGGGCGTGAT	0.617													C	35773520	G	C	35773520	3	2	148	1	0	0	0	0	1	0	0	0	8768	1145	40	5	75	5	LHFPL5	6	35773520	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	2361815	35773520	135341547	82	81191											
RNF8	9025	broad.mit.edu	37	chr6	37344811	37344811	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaatacttcattgaggTaattatgaacagttgctcac	7	7	3	3			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr6:37344811T>G	uc003onq.3	+	6	1429	c.1236_splice	c.e6+2	p.E412_splice	RNF8_uc003onr.3_Splice_Site_p.E412_splice|RNF8_uc011dtx.1_Splice_Site_p.E344_splice	NM_003958	NP_003949	O76064	RNF8_HUMAN	ring finger protein 8 isoform 1						cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1						TTCATTGAGGTAATTATGAAC	0.249													G	37344811	T	G	37344811	5	3	148	1	0	0	0	0	0	0	1	0	13500	1652	57	5	1260	5	RNF8	6	37344811	Splice_Site	SNP	T	TCGA-CD-8531-01A-11D-2340-08	1571291	37344811	133770256	83	81192											
KLC4	89953	broad.mit.edu	37	chr6	43029177	43029177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagccaagggctagaggCcctacgcagtgaacaccagg	14	12	1	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr6:43029177C>T	uc003otv.1	+	2	181	c.104C>T	c.(103-105)GCC>GTC	p.A35V	KLC4_uc003otr.1_RNA|MRPL2_uc003ots.1_5'Flank|MRPL2_uc011dvc.1_5'Flank|MRPL2_uc010jyi.2_5'Flank|MRPL2_uc003ott.3_5'Flank|KLC4_uc011dvd.1_Missense_Mutation_p.A35V|KLC4_uc003otu.2_Missense_Mutation_p.A35V|KLC4_uc003otw.1_Missense_Mutation_p.A53V|KLC4_uc003otx.1_Missense_Mutation_p.A35V|KLC4_uc003oty.1_Missense_Mutation_p.A35V|KLC4_uc003otz.1_Missense_Mutation_p.A35V	NM_201521	NP_958929	Q9NSK0	KLC4_HUMAN	kinesin-like 8 isoform a	35	Potential.					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			skin(3)|ovary(1)	4			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			GGGCTAGAGGCCCTACGCAGT	0.642													T	43029177	C	T	43029177	3	4	148	1	0	0	0	0	1	0	0	0	8336	739	26	2	164	2	KLC4	6	43029177	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	5684366	43029177	128085890	84	81193											
EEF1A1	1915	broad.mit.edu	37	chr6	74227767	74227767	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttacccaaaggtggatagTctgagaagctctcaacacac	8	12	2	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr6:74227767T>C	uc003phi.2	-	6	1287	c.1250A>G	c.(1249-1251)GAC>GGC	p.D417G	EEF1A1_uc003phd.2_Missense_Mutation_p.D142G|EEF1A1_uc003phe.2_Missense_Mutation_p.D407G|EEF1A1_uc003phf.2_Missense_Mutation_p.D410G|EEF1A1_uc003phg.2_Intron|EEF1A1_uc003phh.2_Missense_Mutation_p.D263G|EEF1A1_uc003phj.2_Missense_Mutation_p.D417G|EEF1A1_uc003phk.2_Missense_Mutation_p.D417G|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron	NM_001402	NP_001393	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha	417						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0						AGGTGGATAGTCTGAGAAGCT	0.378											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C	74227767	T	C	74227767	3	2	148	1	0	0	0	0	1	0	0	0	4923	1667	58	3	146	3	EEF1A1	6	74227767	Missense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08	31198590	74227767	96887300	85	81194											
EEF1A1	1915	broad.mit.edu	37	chr6	74229194	74229209	+	Frame_Shift_Del	DEL	TCAGTTTATCCAAGAC	TCAGTTTATCCAAGAC	-													accacgttcacgctcagcttTcagtttatccaagacccagg							TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr6:74229193_74229208TTCAGTTTATCCAAGAC>T	uc003phi.3	-	1	1168_1183	c.176_191GTCTTGGATAAACTGAA>A	c.(175-192)gtcttggataaactgaaafs	p.V59fs	EEF1A1_uc003phj.3_Frame_Shift_Del_p.V59fs|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Frame_Shift_Del_p.V59fs|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	59						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACGCTCAGCTTTCAGTTTATCCAAGACCCAGGCATA	0.444											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	-	74229209	TCAGTTTATCCAAGAC	-	74229194	7	5	148	1	0	1	0	1	0	0	0	0	4923	1792	62	0	1222	0	EEF1A1	6	74229194	Frame_Shift_Del	DEL	TCAGTTTATCCAAGAC	TCGA-CD-8531-01A-11D-2340-08	1427	74229194	96885873	86	81195											
PRSS35	167681	broad.mit.edu	37	chr6	84234217	84234217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggttcgggggtctatctgCgtctgaaagatccagacaaa	12	10	3	3			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr6:84234217C>T	uc003pjz.2	+	2	1220	c.1057C>T	c.(1057-1059)CGT>TGT	p.R353C	PRSS35_uc010kbm.2_Missense_Mutation_p.R353C	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35 precursor	353	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGTCTATCTGCGTCTGAAAGA	0.512													T	84234217	C	T	84234217	3	4	148	1	0	0	0	0	1	0	0	0	12624	768	27	1	1059	1	PRSS35	6	84234217	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	10005023	84234217	86880850	87	81196											
ZNF292	23036	broad.mit.edu	37	chr6	87965269	87965269	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tataaaaaagaatagtctctAttcaacagattttatagtgt	5	4	2	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr6:87965269A>G	uc003plm.3	+	8	1963	c.1922A>G	c.(1921-1923)TAT>TGT	p.Y641C		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	641					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AATAGTCTCTATTCAACAGAT	0.368													G	87965269	A	G	87965269	3	3	148	1	0	0	0	0	1	0	0	0	17823	449	16	3	1952	3	ZNF292	6	87965269	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	3731052	87965269	83149798	88	81197											
HECA	51696	broad.mit.edu	37	chr6	139488008	139488008	+	Frame_Shift_Del	DEL	G	G	-													tctctcctgcccacttcagcGgcccccgctcctccagatac							TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr6:139488008delG	uc003qin.2	+	2	1144	c.859delG	c.(859-861)GGCfs	p.G287fs		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	287					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CCACTTCAGCGGCCCCCGCTC	0.652													-	139488008	G	-	139488008	7	5	148	1	0	1	0	1	0	0	0	0	7038	1116	39	0	865	0	HECA	6	139488008	Frame_Shift_Del	DEL	G	TCGA-CD-8531-01A-11D-2340-08	51522739	139488008	31627059	89	81198											
HECA	51696	broad.mit.edu	37	chr6	139488378	139488378	+	Frame_Shift_Del	DEL	A	A	-													ggcgctcccggtgttcgaacAgttcccactggtggatggaa							TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr6:139488378delA	uc003qin.2	+	2	1514	c.1229delA	c.(1228-1230)CAGfs	p.Q410fs		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	410					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GTGTTCGAACAGTTCCCACTG	0.527													-	139488378	A	-	139488378	7	5	148	1	0	1	0	1	0	0	0	0	7038	188	7	0	1235	0	HECA	6	139488378	Frame_Shift_Del	DEL	A	TCGA-CD-8531-01A-11D-2340-08	370	139488378	31626689	90	81199											
TIAM2	26230	broad.mit.edu	37	chr6	155451015	155451015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccaggagggggtccagcGccgattccctgcccagccat	13	15	0	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr6:155451015G>A	uc003qqb.2	+	6	1931	c.658G>A	c.(658-660)GCC>ACC	p.A220T	TIAM2_uc003qqe.2_Missense_Mutation_p.A220T	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	220					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)		GGGGTCCAGCGCCGATTCCCT	0.642													A	155451015	G	A	155451015	3	1	148	1	0	0	0	0	1	0	0	0	15888	1087	38	1	660	1	TIAM2	6	155451015	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	15962637	155451015	15664052	91	81200											
CCR6	1235	broad.mit.edu	37	chr6	167550723	167550723	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatcttgaaggacctgtgGtgtgtgagaaggaagtacaa	14	4	1	3			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr6:167550723G>A	uc003qvl.2	+	13	3481	c.1005G>A	c.(1003-1005)TGG>TGA	p.W335*	CCR6_uc010kkm.2_Nonsense_Mutation_p.W335*|CCR6_uc003qvn.3_Nonsense_Mutation_p.W335*|CCR6_uc003qvm.3_Nonsense_Mutation_p.W335*	NM_031409	NP_113597	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	335	Cytoplasmic (Potential).				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			ovary(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		AGGACCTGTGGTGTGTGAGAA	0.498													A	167550723	G	A	167550723	4	1	148	1	0	0	0	0	0	1	0	0	2945	1270	44	4	1011	4	CCR6	6	167550723	Nonsense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	12099708	167550723	3564344	92	81201											
MAD1L1	8379	broad.mit.edu	37	chr7	1937852	1937852	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttgaagatgaggcagTcgcctgggtgctcggcgtac	14	12	0	3			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr7:1937852T>C	uc003slh.1	-	18	2248	c.1982A>G	c.(1981-1983)GAC>GGC	p.D661G	MAD1L1_uc003sle.1_Missense_Mutation_p.D390G|MAD1L1_uc003slf.1_Missense_Mutation_p.D661G|MAD1L1_uc003slg.1_Missense_Mutation_p.D661G|MAD1L1_uc010ksh.1_Missense_Mutation_p.D661G|MAD1L1_uc003sli.1_Missense_Mutation_p.D569G|MAD1L1_uc010ksi.1_Missense_Mutation_p.D614G|MAD1L1_uc010ksj.2_Missense_Mutation_p.D661G|MAD1L1_uc003sld.1_Missense_Mutation_p.D117G	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	661					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GATGAGGCAGTCGCCTGGGTG	0.627													C	1937852	T	C	1937852	3	2	148	1	0	0	0	0	1	0	0	0	9147	1667	58	3	182	3	MAD1L1	7	1937852	Missense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08		1937852	157200811	93	81202											
BBS9	27241	broad.mit.edu	37	chr7	33217127	33217127	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaacatgggaaccaatgtcaGatgaaattgatgtatgaaca	10	5	1	4			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr7:33217127G>C	uc003tdn.1	+	5	879	c.366G>C	c.(364-366)CAG>CAC	p.Q122H	BBS9_uc003tdo.1_Missense_Mutation_p.Q122H|BBS9_uc003tdp.1_Missense_Mutation_p.Q122H|BBS9_uc003tdq.1_Missense_Mutation_p.Q122H|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.Q122H|BBS9_uc011kao.1_5'UTR	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	122					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			ACCAATGTCAGATGAAATTGA	0.323									Bardet-Biedl_syndrome				C	33217127	G	C	33217127	3	2	148	1	0	0	0	0	1	0	0	0	1342	933	33	5	380	5	BBS9	7	33217127	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	31279275	33217127	125921536	94	81203											
DDC	1644	broad.mit.edu	37	chr7	50566911	50566911	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actgcctgcgtaggctgcatCaacgtgcagccatatgtctt	10	12	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr7:50566911C>A	uc003tpf.3	-	8	897	c.811G>T	c.(811-813)GAT>TAT	p.D271Y	DDC_uc010kza.2_Missense_Mutation_p.D186Y|DDC_uc003tpg.3_Missense_Mutation_p.D271Y	NM_000790	NP_000781	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid	271					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(2)	2	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TAGGCTGCATCAACGTGCAGC	0.552													A	50566911	C	A	50566911	3	1	148	1	0	0	0	0	1	0	0	0	4325	826	29	5	659	5	DDC	7	50566911	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	17349784	50566911	108571752	95	81204											
SEMA3C	10512	broad.mit.edu	37	chr7	80418653	80418653	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaggacatggtatctcccAtcagcagcgttcactcgatc	8	13	3	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr7:80418653A>G	uc003uhj.2	-	12	1885	c.1323T>C	c.(1321-1323)GAT>GAC	p.D441D	SEMA3C_uc011kgw.1_Silent_p.D459D	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C precursor	441	Sema.				immune response|response to drug	membrane	receptor activity			ovary(1)	1						GGTATCTCCCATCAGCAGCGT	0.393													G	80418653	A	G	80418653	2	3	148	1	0	0	0	0	0	0	0	1	14026	214	8	3		3	SEMA3C	7	80418653	Silent	SNP	A	TCGA-CD-8531-01A-11D-2340-08	29851742	80418653	78720010	96	81205											
PPP1R9A	55607	broad.mit.edu	37	chr7	94539579	94539579	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaagaaggtgagggctccCagcagagcagggggaggaaa	17	7	0	3			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr7:94539579C>T	uc003unp.2	+	2	436	c.154C>T	c.(154-156)CAG>TAG	p.Q52*	PPP1R9A_uc010lfj.2_Nonsense_Mutation_p.Q52*|PPP1R9A_uc011kif.1_Nonsense_Mutation_p.Q52*|PPP1R9A_uc003unq.2_Nonsense_Mutation_p.Q52*|PPP1R9A_uc011kig.1_Nonsense_Mutation_p.Q52*	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	52	Actin-binding.					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TGAGGGCTCCCAGCAGAGCAG	0.448										HNSCC(28;0.073)			T	94539579	C	T	94539579	4	4	148	1	0	0	0	0	0	1	0	0	12378	595	21	4	156	4	PPP1R9A	7	94539579	Nonsense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	14120926	94539579	64599084	97	81206											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97991713	97991713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccccaggtttattaaatttCgcagcccaggattgaactgt	8	10	0	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr7:97991713C>T	uc003upj.2	-	2	346	c.83G>A	c.(82-84)CGA>CAA	p.R28Q		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	28	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			ovary(1)	1	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TATTAAATTTCGCAGCCCAGG	0.299													T	97991713	C	T	97991713	3	4	148	1	0	0	0	0	1	0	0	0	1302	884	31	1	1504	1	BAIAP2L1	7	97991713	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	3452134	97991713	61146950	98	81207											
ACHE	43	broad.mit.edu	37	chr7	100491479	100491479	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgttgaggtacaggcagtcCtcgctcagctcacggttggg	14	11	2	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr7:100491479C>A	uc003uxd.2	-	1	531	c.375G>T	c.(373-375)GAG>GAT	p.E125D	ACHE_uc003uxe.2_Missense_Mutation_p.E125D|ACHE_uc003uxf.2_Missense_Mutation_p.E125D|ACHE_uc003uxg.2_Missense_Mutation_p.E125D|ACHE_uc003uxh.2_Missense_Mutation_p.E125D|ACHE_uc003uxi.2_Missense_Mutation_p.E125D|ACHE_uc003uxj.1_Missense_Mutation_p.E244D	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	125					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	ACAGGCAGTCCTCGCTCAGCT	0.582													A	100491479	C	A	100491479	3	1	148	1	0	0	0	0	1	0	0	0	141	680	24	5	1620	5	ACHE	7	100491479	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	2499766	100491479	58647184	99	81208											
DOCK4	9732	broad.mit.edu	37	chr7	111430549	111430549	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcctctgctcccagtcCatcatatcatgaaaaattgg	6	14	3	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr7:111430549C>A	uc003vfx.2	-	31	3548	c.3279G>T	c.(3277-3279)ATG>ATT	p.M1093I	DOCK4_uc011kmm.1_5'Flank|DOCK4_uc003vfw.2_Missense_Mutation_p.M534I|DOCK4_uc003vfy.2_Missense_Mutation_p.M1129I	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1093	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				GCTCCCAGTCCATCATATCAT	0.473													A	111430549	C	A	111430549	3	1	148	1	0	0	0	0	1	0	0	0	4689	594	21	5	2709	5	DOCK4	7	111430549	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	10939070	111430549	47708114	100	81209											
PTPRZ1	5803	broad.mit.edu	37	chr7	121653617	121653617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagtcctggtaaatcacCatcagcaaatgggctatccc	8	12	2	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr7:121653617C>T	uc003vjy.2	+	12	4912	c.4517C>T	c.(4516-4518)CCA>CTA	p.P1506L	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1506	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						GGTAAATCACCATCAGCAAAT	0.418													T	121653617	C	T	121653617	3	4	148	1	0	0	0	0	1	0	0	0	12814	594	21	4	4563	4	PTPRZ1	7	121653617	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	10223068	121653617	37485046	101	81210											
PTPRZ1	5803	broad.mit.edu	37	chr7	121698906	121698906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcctaaatggccaaatcCagatagccccattagtaaaa	7	10	0	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr7:121698906C>T	uc003vjy.2	+	28	6976	c.6581C>T	c.(6580-6582)CCA>CTA	p.P2194L	PTPRZ1_uc003vjz.2_Missense_Mutation_p.P1327L|PTPRZ1_uc011knt.1_Missense_Mutation_p.P784L	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	2194	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						TGGCCAAATCCAGATAGCCCC	0.363													T	121698906	C	T	121698906	3	4	148	1	0	0	0	0	1	0	0	0	12814	594	21	4	6691	4	PTPRZ1	7	121698906	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	45289	121698906	37439757	102	81211											
LMOD2	442721	broad.mit.edu	37	chr7	123296099	123296099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctcgcctccctgtcagccGaggagctgaaggagctagag	13	13	1	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr7:123296099G>A	uc003vky.2	+	1	239	c.82G>A	c.(82-84)GAG>AAG	p.E28K		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	28	Tropomyosin-binding (By similarity).|Potential.|Glu-rich.					cytoskeleton	actin binding|tropomyosin binding				0						CCTGTCAGCCGAGGAGCTGAA	0.537													A	123296099	G	A	123296099	3	1	148	1	0	0	0	0	1	0	0	0	8857	1059	37	1	84	1	LMOD2	7	123296099	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	1597193	123296099	35842564	103	81212											
MKLN1	4289	broad.mit.edu	37	chr7	131151138	131151138	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagaccttcaaaagattattTactgaggcattgcaagtacc	7	8	1	3			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr7:131151138T>G	uc011kpm.1	+	15	1956	c.1892T>G	c.(1891-1893)TTA>TGA	p.L631*	MKLN1_uc011kpl.1_Nonsense_Mutation_p.L608*|MKLN1_uc010lmh.2_Nonsense_Mutation_p.L631*|MKLN1_uc003vqs.2_Nonsense_Mutation_p.L424*|MKLN1_uc003vqu.2_Nonsense_Mutation_p.L121*	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing	631	Kelch 6.				signal transduction	cytoplasm	protein binding			breast(1)	1	Melanoma(18;0.162)					AAAGATTATTTACTGAGGCAT	0.333													G	131151138	T	G	131151138	4	3	148	1	0	0	0	0	0	1	0	0	9603	1764	61	5	1983	5	MKLN1	7	131151138	Nonsense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08	7855039	131151138	27987525	104	81213											
KEL	3792	broad.mit.edu	37	chr7	142650947	142650947	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgacatgtttttcaaatattCcacgtcatggaccacgaggg	9	9	2	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr7:142650947C>G	uc003wcb.2	-	9	1231	c.1021G>C	c.(1021-1023)GAA>CAA	p.E341Q		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	341	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)					TTCAAATATTCCACGTCATGG	0.537													G	142650947	C	G	142650947	3	3	148	1	0	0	0	0	1	0	0	0	8142	864	30	5	1221	5	KEL	7	142650947	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	11499809	142650947	16487716	105	81214											
CNTNAP2	26047	broad.mit.edu	37	chr7	146805422	146805422	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaactgaaaaaagccaagcTggtcctcagtttaaacttag	9	8	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr7:146805422T>C	uc003weu.1	+	5	1250	c.734T>C	c.(733-735)CTG>CCG	p.L245P		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	245	Laminin G-like 1.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAAGCCAAGCTGGTCCTCAGT	0.398										HNSCC(39;0.1)			C	146805422	T	C	146805422	3	2	148	1	0	0	0	0	1	0	0	0	3647	1580	55	3	752	3	CNTNAP2	7	146805422	Missense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08	4154475	146805422	12333241	106	81215											
ZNF862	643641	broad.mit.edu	37	chr7	149558351	149558351	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggacggatggctcagccaTgttgagctgcagaggaggcc	18	9	1	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr7:149558351T>C	uc010lpn.2	+	7	2294	c.2102T>C	c.(2101-2103)ATG>ACG	p.M701T	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	701					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						GGCTCAGCCATGTTGAGCTGC	0.632													C	149558351	T	C	149558351	3	2	148	1	0	0	0	0	1	0	0	0	18192	1464	51	3	2128	3	ZNF862	7	149558351	Missense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08	2752929	149558351	9580312	107	81216											
MLL3	58508	broad.mit.edu	37	chr7	151845319	151845319	+	Frame_Shift_Del	DEL	G	G	-													agaatggaatgcttgcatctGctgtggaagcagctgaccaa							TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr7:151845319delG	uc003wla.2	-	52	13912	c.13693delC	c.(13693-13695)CAGfs	p.Q4565fs	MLL3_uc003wkz.2_Frame_Shift_Del_p.Q3683fs|MLL3_uc003wkx.2_Frame_Shift_Del_p.Q723fs|MLL3_uc003wky.2_Frame_Shift_Del_p.Q2129fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4565	FYR N-terminal.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCTTGCATCTGCTGTGGAAGC	0.552			N		medulloblastoma								-	151845319	G	-	151845319	7	5	148	1	0	1	0	1	0	0	0	0	9622	1328	46	0	1074	0	MLL3	7	151845319	Frame_Shift_Del	DEL	G	TCGA-CD-8531-01A-11D-2340-08	2286968	151845319	7293344	108	81217											
MLL3	58508	broad.mit.edu	37	chr7	151878910	151878910	+	Frame_Shift_Del	DEL	G	G	-													tttgaaacacatctgccctaGgagatggtttagtaaagtga							TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr7:151878910delG	uc003wla.2	-	36	6254	c.6035delC	c.(6034-6036)CCTfs	p.P2012fs	MLL3_uc003wkz.2_Frame_Shift_Del_p.P1073fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2012	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ATCTGCCCTAGGAGATGGTTT	0.473			N		medulloblastoma								-	151878910	G	-	151878910	7	5	148	1	0	1	0	1	0	0	0	0	9622	1000	35	0	8796	0	MLL3	7	151878910	Frame_Shift_Del	DEL	G	TCGA-CD-8531-01A-11D-2340-08	33591	151878910	7259753	109	81218											
MLL3	58508	broad.mit.edu	37	chr7	151893050	151893050	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attccaagaatgtcatcatcTgtgtttaaaacttcagaaat	5	7	4	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr7:151893050T>C	uc003wla.2	-	28	4539	c.4320A>G	c.(4318-4320)ACA>ACG	p.T1440T	MLL3_uc003wkz.2_Silent_p.T501T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1440					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGTCATCATCTGTGTTTAAAA	0.299			N		medulloblastoma								C	151893050	T	C	151893050	2	2	148	1	0	0	0	0	0	0	0	1	9622	1567	55	3		3	MLL3	7	151893050	Silent	SNP	T	TCGA-CD-8531-01A-11D-2340-08	14140	151893050	7245613	110	81219											
NRG1	3084	broad.mit.edu	37	chr8	32621289	32621289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtcagccatgaccacccCggctcgtatgtcacctgtag	10	14	2	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr8:32621289C>T	uc003xiv.2	+	12	1809	c.1292C>T	c.(1291-1293)CCG>CTG	p.P431L	NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.P436L|NRG1_uc003xiw.2_Missense_Mutation_p.P428L|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.P173L|NRG1_uc010lvs.2_Missense_Mutation_p.P173L|NRG1_uc010lvp.2_Missense_Mutation_p.P385L|NRG1_uc010lvq.2_Missense_Mutation_p.P368L|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.P274L|NRG1_uc003xja.2_Missense_Mutation_p.P242L	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	431	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ATGACCACCCCGGCTCGTATG	0.547													T	32621289	C	T	32621289	3	4	148	1	0	0	0	0	1	0	0	0	10647	652	23	1	3063	1	NRG1	8	32621289	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08		32621289	113742733	111	81220											
UNC5D	137970	broad.mit.edu	37	chr8	35453072	35453072	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatctcatgcttctttgcagAtttacggaaaaactttgaac	6	8	2	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr8:35453072A>C	uc003xjr.1	+	4	795	c.467A>C	c.(466-468)TAT>TCT	p.Y156S	UNC5D_uc003xjs.1_Missense_Mutation_p.Y151S	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	156	Extracellular (Potential).|Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTCTTTGCAGATTTACGGAAA	0.433													C	35453072	A	C	35453072	3	2	148	1	0	0	0	0	1	0	0	0	16992	347	12	5	481	5	UNC5D	8	35453072	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	2831783	35453072	110910950	112	81221											
GPR124	25960	broad.mit.edu	37	chr8	37688342	37688342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacctgggcaacgacacccGcatccgctggtaccacaacc	8	18	0	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr8:37688342G>A	uc003xkj.2	+	7	1196	c.833G>A	c.(832-834)CGC>CAC	p.R278H	GPR124_uc010lvy.2_Missense_Mutation_p.R278H	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	278	Extracellular (Potential).|Ig-like.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AACGACACCCGCATCCGCTGG	0.642													A	37688342	G	A	37688342	3	1	148	1	0	0	0	0	1	0	0	0	6638	1087	38	1	838	1	GPR124	8	37688342	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	2235270	37688342	108675680	113	81222											
LYN	4067	broad.mit.edu	37	chr8	56912001	56912001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagttccctattaagtggaCggctccagaagcaatcaact	8	10	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr8:56912001C>T	uc003xsk.3	+	12	1511	c.1229C>T	c.(1228-1230)ACG>ATG	p.T410M	LYN_uc003xsl.3_Missense_Mutation_p.T389M	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	410	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			ATTAAGTGGACGGCTCCAGAA	0.393													T	56912001	C	T	56912001	3	4	148	1	0	0	0	0	1	0	0	0	9107	536	19	1	1271	1	LYN	8	56912001	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	19223659	56912001	89452021	114	81223											
TRPA1	8989	broad.mit.edu	37	chr8	72950287	72950287	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacactaaaatcatacaAgtttttattagatatgaatt	3	4	1	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr8:72950287A>T	uc003xza.2	-	20	2491	c.2316T>A	c.(2314-2316)ACT>ACA	p.T772T	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	772	Extracellular (Potential).					integral to plasma membrane		p.T772T(1)		ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	AAATCATACAAGTTTTTATTA	0.259													T	72950287	A	T	72950287	2	4	148	1	0	0	0	0	0	0	0	1	16574	59	3	5		5	TRPA1	8	72950287	Silent	SNP	A	TCGA-CD-8531-01A-11D-2340-08	16038286	72950287	73413735	115	81224											
NECAB1	64168	broad.mit.edu	37	chr8	91929744	91929744	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	accaagaagcctccaatttgGaacaattcgtaactagattt	6	9	0	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr8:91929744G>T	uc011lgg.1	+	6	576	c.382G>T	c.(382-384)GAA>TAA	p.E128*		NM_022351	NP_071746	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	128					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.0499)			CTCCAATTTGGAACAATTCGT	0.378													T	91929744	G	T	91929744	4	4	148	1	0	0	0	0	0	1	0	0	10304	1175	41	5	404	5	NECAB1	8	91929744	Nonsense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	18979457	91929744	54434278	116	81225											
YWHAZ	7534	broad.mit.edu	37	chr8	101936211	101936211	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctctcagtaattgcattAttagcgtgctgtctttgtat	8	7	3	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr8:101936211A>C	uc011lhe.1	-	5	827	c.650T>G	c.(649-651)ATA>AGA	p.I217R	YWHAZ_uc003yjv.2_Missense_Mutation_p.I217R|YWHAZ_uc011lhf.1_Missense_Mutation_p.I217R|YWHAZ_uc003yjw.2_Missense_Mutation_p.I217R|YWHAZ_uc010mbq.2_Missense_Mutation_p.I140R|YWHAZ_uc011lhg.1_Missense_Mutation_p.I97R|YWHAZ_uc010mbr.2_Missense_Mutation_p.I217R|YWHAZ_uc003yjx.2_Missense_Mutation_p.I217R|YWHAZ_uc003yjy.2_Missense_Mutation_p.I217R	NM_001135702	NP_001129174	P63104	1433Z_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	217					anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding				0	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)	TAATTGCATTATTAGCGTGCT	0.333													C	101936211	A	C	101936211	3	2	148	1	0	0	0	0	1	0	0	0	17503	449	16	5	95	5	YWHAZ	8	101936211	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	10006467	101936211	44427811	117	81226											
LRP12	29967	broad.mit.edu	37	chr8	105503072	105503072	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatggttgtctaagcccttgTccttgatctgaggcaagatc	10	9	2	3			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr8:105503072T>C	uc003yma.2	-	7	2504	c.2409A>G	c.(2407-2409)GGA>GGG	p.G803G	LRP12_uc003ymb.2_Silent_p.G784G|LRP12_uc003ylz.2_Silent_p.G209G	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	803	Cytoplasmic (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TAAGCCCTTGTCCTTGATCTG	0.448													C	105503072	T	C	105503072	2	2	148	1	0	0	0	0	0	0	0	1	8954	1654	58	3		3	LRP12	8	105503072	Silent	SNP	T	TCGA-CD-8531-01A-11D-2340-08	3566861	105503072	40860950	118	81227											
RSPO2	340419	broad.mit.edu	37	chr8	109001352	109001352	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggcaggaatgcaggcactctCcatactggcgcatcccttct	10	14	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr8:109001352C>G	uc003yms.2	-	3	873	c.215G>C	c.(214-216)GGA>GCA	p.G72A	RSPO2_uc003ymq.2_Missense_Mutation_p.G5A|RSPO2_uc003ymr.2_Intron	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	R-spondin family, member 2 precursor	72					Wnt receptor signaling pathway	extracellular region	heparin binding			skin(3)|ovary(2)|pancreas(1)|lung(1)	7			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CAGGCACTCTCCATACTGGCG	0.478													G	109001352	C	G	109001352	3	3	148	1	0	0	0	0	1	0	0	0	13710	855	30	5	532	5	RSPO2	8	109001352	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	3498280	109001352	37362670	119	81228											
CSMD3	114788	broad.mit.edu	37	chr8	113694863	113694863	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggcattcattatgtccaaAtgctttagaataatatgcaa	7	6	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr8:113694863A>G	uc003ynu.2	-	16	2644	c.2485T>C	c.(2485-2487)TTT>CTT	p.F829L	CSMD3_uc003yns.2_Missense_Mutation_p.F101L|CSMD3_uc003ynt.2_Missense_Mutation_p.F789L|CSMD3_uc011lhx.1_Missense_Mutation_p.F725L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	829	Extracellular (Potential).|CUB 4.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TTATGTCCAAATGCTTTAGAA	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113694863	A	G	113694863	3	3	148	1	0	0	0	0	1	0	0	0	3946	101	4	3	8862	3	CSMD3	8	113694863	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	4693511	113694863	32669159	120	81229											
FLJ43860	389690	broad.mit.edu	37	chr8	142506543	142506543	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctgtccctgcgggcagagtCctggtgtaccttcatgcaag	12	12	2	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr8:142506543C>A	uc003ywi.2	-	2	220	c.139G>T	c.(139-141)GAC>TAC	p.D47Y	FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	47							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGGGCAGAGTCCTGGTGTACC	0.577													A	142506543	C	A	142506543	3	1	148	1	0	0	0	0	1	0	0	0	5930	855	30	5	3933	5	FLJ43860	8	142506543	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	28811680	142506543	3857479	121	81230											
FRMPD1	22844	broad.mit.edu	37	chr9	37745995	37745995	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgggttttgcaggcatgaaTgagatggtggctcccaggat	15	6	0	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr9:37745995T>G	uc004aag.1	+	16	4010	c.3966T>G	c.(3964-3966)AAT>AAG	p.N1322K	FRMPD1_uc004aah.1_Missense_Mutation_p.N1322K	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1322						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		CAGGCATGAATGAGATGGTGG	0.537													G	37745995	T	G	37745995	3	3	148	1	0	0	0	0	1	0	0	0	6057	1461	51	5	4024	5	FRMPD1	9	37745995	Missense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08		37745995	103467436	122	81231											
ALDH1B1	219	broad.mit.edu	37	chr9	38397141	38397141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacccaggcactccaggccGggaccgtgtgggtaaacacc	12	15	1	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr9:38397141G>A	uc004aay.2	+	2	1508	c.1396G>A	c.(1396-1398)GGG>AGG	p.G466R		NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	466					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			skin(1)	1				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	ACTCCAGGCCGGGACCGTGTG	0.592													A	38397141	G	A	38397141	3	1	148	1	0	0	0	0	1	0	0	0	493	1116	39	1	1398	1	ALDH1B1	9	38397141	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	651146	38397141	102816290	123	81232											
SEMA4D	10507	broad.mit.edu	37	chr9	91996119	91996119	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctcggtctggtgcagagccAcgcaggtcgctgtgggcggg	18	11	2	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr9:91996119A>T	uc004aqo.1	-	16	2161	c.1589T>A	c.(1588-1590)GTG>GAG	p.V530E	SEMA4D_uc011ltm.1_Missense_Mutation_p.V530E|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.V528E	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	530	PSI.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						GTGCAGAGCCACGCAGGTCGC	0.677													T	91996119	A	T	91996119	3	4	148	1	0	0	0	0	1	0	0	0	14034	159	6	5	1581	5	SEMA4D	9	91996119	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	53598978	91996119	49217312	124	81233											
SEMA4D	10507	broad.mit.edu	37	chr9	91996153	91996153	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcgggctccaggcgcagtAggggtcccgcgccagcacac	17	15	0	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr9:91996153A>G	uc004aqo.1	-	16	2127	c.1555T>C	c.(1555-1557)TAC>CAC	p.Y519H	SEMA4D_uc011ltm.1_Missense_Mutation_p.Y519H|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.Y517H	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	519	PSI.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						CAGGCGCAGTAGGGGTCCCGC	0.692													G	91996153	A	G	91996153	3	3	148	1	0	0	0	0	1	0	0	0	14034	420	15	3	1615	3	SEMA4D	9	91996153	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	34	91996153	49217278	125	81234											
WNK2	65268	broad.mit.edu	37	chr9	96030035	96030035	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccctttgcaggtggagcAtgactttatcctgcaggccg	12	11	0	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr9:96030035A>G	uc004ati.1	+	16	3704	c.3704A>G	c.(3703-3705)CAT>CGT	p.H1235R	WNK2_uc011lud.1_Missense_Mutation_p.H1235R|WNK2_uc004atj.2_Missense_Mutation_p.H1235R|WNK2_uc004atk.2_Missense_Mutation_p.H872R	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1235					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						CAGGTGGAGCATGACTTTATC	0.557													G	96030035	A	G	96030035	3	3	148	1	0	0	0	0	1	0	0	0	17375	217	8	3	3766	3	WNK2	9	96030035	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	4033882	96030035	45183396	126	81235											
OR13C9	286362	broad.mit.edu	37	chr9	107380453	107380453	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtcccttcagaaaaaaTtccaccagaatggtttggtt	8	8	1	2	rs144981085		TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr9:107380453T>A	uc011lvr.1	-	1	33	c.33A>T	c.(31-33)GAA>GAT	p.E11D		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C,	11	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TCAGAAAAAATTCCACCAGAA	0.343													A	107380453	T	A	107380453	3	1	148	1	0	0	0	0	1	0	0	0	10939	1490	52	5	926	5	OR13C9	9	107380453	Missense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08	11350418	107380453	33832978	127	81236											
ZBTB26	57684	broad.mit.edu	37	chr9	125681733	125681733	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaatacaaggtgagtcctGctttggggagcctctggcat	13	8	1	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr9:125681733G>A	uc004bnj.2	-	2	693	c.481C>T	c.(481-483)CAG>TAG	p.Q161*	ZBTB26_uc004bnk.2_Nonsense_Mutation_p.Q161*	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGTGAGTCCTGCTTTGGGGAG	0.448													A	125681733	G	A	125681733	4	1	148	1	0	0	0	0	0	1	0	0	17530	1328	46	2	848	2	ZBTB26	9	125681733	Nonsense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	18301280	125681733	15531698	128	81237											
AKR1C1	1645	broad.mit.edu	37	chr10	5008166	5008166	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagctggcttccgccatAttgattctgctcatttatac	7	10	2	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr10:5008166A>G	uc001iho.2	+	7	986	c.145A>G	c.(145-147)ATT>GTT	p.I49V	AKR1E2_uc001ihl.1_Intron|AKR1C2_uc010qan.1_Intron|AKR1C3_uc001ihr.2_Missense_Mutation_p.I49V|AKR1C1_uc009xhx.2_Missense_Mutation_p.I49V|AKR1C1_uc001ihq.2_Missense_Mutation_p.I49V	NM_001353	NP_001344	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	49					bile acid and bile salt transport|bile acid metabolic process|cholesterol homeostasis|intestinal cholesterol absorption|protein homooligomerization|response to organophosphorus|xenobiotic metabolic process	cytosol	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid binding|indanol dehydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			ovary(2)	2					NADH(DB00157)	CTTCCGCCATATTGATTCTGC	0.433													G	5008166	A	G	5008166	3	3	148	1	0	0	0	0	1	0	0	0	469	449	16	3	151	3	AKR1C1	10	5008166	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08		5008166	130526581	129	81238											
KIAA1217	56243	broad.mit.edu	37	chr10	24832186	24832186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actagactaacagaatcaagCgtgcatgattttaaaacaga	7	7	1	4			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr10:24832186C>T	uc001iru.3	+	19	4390	c.3987C>T	c.(3985-3987)AGC>AGT	p.S1329S	KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Silent_p.S1012S|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Silent_p.S165S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1329					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						CAGAATCAAGCGTGCATGATT	0.433													T	24832186	C	T	24832186	2	4	148	1	0	0	0	0	0	0	0	1	8216	767	27	1		1	KIAA1217	10	24832186	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08	19824020	24832186	110702561	130	81239											
GAD2	2572	broad.mit.edu	37	chr10	26506781	26506781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttacccagccctgctctaCggagacgccgagaagccggc	11	17	1	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr10:26506781C>T	uc001isp.2	+	3	650	c.147C>T	c.(145-147)TAC>TAT	p.Y49Y	GAD2_uc009xkr.2_Silent_p.Y49Y|GAD2_uc001isq.2_Silent_p.Y49Y	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	49					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Glutamic Acid(DB00142)	CCCTGCTCTACGGAGACGCCG	0.642													T	26506781	C	T	26506781	2	4	148	1	0	0	0	0	0	0	0	1	6180	547	19	1		1	GAD2	10	26506781	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08	1674595	26506781	109027966	131	81240											
OGDHL	55753	broad.mit.edu	37	chr10	50950980	50950980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacgcccagtccaccgtccGgttcttggtcatgtccgcac	9	17	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr10:50950980G>A	uc001jie.2	-	15	2048	c.1906C>T	c.(1906-1908)CGG>TGG	p.R636W	OGDHL_uc009xog.2_Missense_Mutation_p.R663W|OGDHL_uc010qgt.1_Missense_Mutation_p.R579W|OGDHL_uc010qgu.1_Missense_Mutation_p.R427W|OGDHL_uc009xoh.2_Missense_Mutation_p.R427W	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	636					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						TCCACCGTCCGGTTCTTGGTC	0.662													A	50950980	G	A	50950980	3	1	148	1	0	0	0	0	1	0	0	0	10840	1115	39	1	1162	1	OGDHL	10	50950980	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	24444199	50950980	84583767	132	81241											
PCDH15	65217	broad.mit.edu	37	chr10	55571328	55571328	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccatgctcataactgtaatAatcttgtccatattcctggc	5	12	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr10:55571328A>C	uc010qhu.1	-	34	4820	c.4425T>G	c.(4423-4425)ATT>ATG	p.I1475M	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron	NM_001142770	NP_001136242	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD2-2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TAACTGTAATAATCTTGTCCA	0.254										HNSCC(58;0.16)			C	55571328	A	C	55571328	3	2	148	1	0	0	0	0	1	0	0	0	11511	358	13	5	1551	5	PCDH15	10	55571328	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	4620348	55571328	79963419	133	81242											
KIAA0913	23053	broad.mit.edu	37	chr10	75557209	75557209	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttaagccggagaccacttCgagggggctgggcccccacc	13	16	0	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr10:75557209C>T	uc009xrl.2	+	18	3525	c.3493C>T	c.(3493-3495)CGA>TGA	p.R1165*	KIAA0913_uc001jve.2_Nonsense_Mutation_p.R1170*|KIAA0913_uc001jvf.2_Nonsense_Mutation_p.R1165*|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Nonsense_Mutation_p.R600*|KIAA0913_uc010qkr.1_Nonsense_Mutation_p.R588*|KIAA0913_uc001jvj.2_Nonsense_Mutation_p.R588*|KIAA0913_uc009xrn.1_5'Flank	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	1165	Ser-rich.			R -> Q (in Ref. 4; BAB14664).			zinc ion binding			breast(1)	1	Prostate(51;0.0112)					GAGACCACTTCGAGGGGGCTG	0.592													T	75557209	C	T	75557209	4	4	148	1	0	0	0	0	0	1	0	0	8200	876	31	1	3578	1	KIAA0913	10	75557209	Nonsense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	19985881	75557209	59977538	134	81243											
SAMD8	142891	broad.mit.edu	37	chr10	76928353	76928353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaactgtattcttgcttcgCtgctttaccatgtttgtgac	9	9	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr10:76928353C>T	uc001jwx.1	+	4	832	c.729C>T	c.(727-729)CGC>CGT	p.R243R	SAMD8_uc001jwy.1_Silent_p.R243R	NM_144660	NP_653261	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	243	Helical; (Potential).				sphingomyelin biosynthetic process	integral to membrane					0	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TCTTGCTTCGCTGCTTTACCA	0.448													T	76928353	C	T	76928353	2	4	148	1	0	0	0	0	0	0	0	1	13825	784	28	2		2	SAMD8	10	76928353	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08	1371144	76928353	58606394	135	81244											
VDAC2	7417	broad.mit.edu	37	chr10	76970891	76970891	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacttcttgtccctcccgcaGattcccctcttcccgcggcc	6	21	2	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr10:76970891G>T	uc001jwz.2	+	2	135	c.-24_splice	c.e2-1		VDAC2_uc010qld.1_Splice_Site|VDAC2_uc001jxa.2_Splice_Site|VDAC2_uc010qle.1_Splice_Site	NM_003375	NP_003366	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2							mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	CCCTCCCGCAGATTCCCCTCT	0.672													T	76970891	G	T	76970891	5	4	148	1	0	0	0	0	0	0	1	0	17144	956	33	5		5	VDAC2	10	76970891	Splice_Site	SNP	G	TCGA-CD-8531-01A-11D-2340-08	42538	76970891	58563856	136	81245											
PTEN	5728	broad.mit.edu	37	chr10	89624242	89624242	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagacatgacagccatcatcAaagagatcgttagcagaaac	8	10	2	4			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr10:89624242A>G	uc001kfb.2	+	2	1047	c.16A>G	c.(16-18)AAA>GAA	p.K6E	KILLIN_uc009xti.2_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	6					activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(13)|p.0?(12)|p.K6fs*4(10)|p.K6I(1)|p.K6N(1)|p.K6R(1)|p.A3fs*14(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGCCATCATCAAAGAGATCGT	0.488		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89624242	A	G	89624242	3	3	148	1	0	0	0	0	1	0	0	0	12738	131	5	3	18	3	PTEN	10	89624242	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	12653351	89624242	45910505	137	81246			2	40		3	3	56	A		1.096091e-07
PTEN	5728	broad.mit.edu	37	chr10	89624286	89624286	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagatatcaagaggatggAttcgacttagacttgacctg	12	6	1	4			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr10:89624286A>G	uc001kfb.2	+	2	1091	c.60A>G	c.(58-60)GGA>GGG	p.G20G	KILLIN_uc009xti.2_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	20	Phosphatase tensin-type.		G -> E (reduced phosphatase activity towards Ins(1,3,4,5)P4; retains phosphatase activity towards PtdIns(3,4,5)P3).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(13)|p.0?(12)|p.F21fs*3(1)|p.G20*(1)|p.Y16fs*21(1)|p.R14_D22del(1)|p.G20E(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAGAGGATGGATTCGACTTAG	0.468		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89624286	A	G	89624286	2	3	148	1	0	0	0	0	0	0	0	1	12738	320	12	3		3	PTEN	10	89624286	Silent	SNP	A	TCGA-CD-8531-01A-11D-2340-08	44	89624286	45910461	138	81247			2	40		3	3	56	A		1.096091e-07
PTEN	5728	broad.mit.edu	37	chr10	89624297	89624297	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaggatggattcgacttagActtgacctgtatccatttct	9	8	1	3			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr10:89624297A>T	uc001kfb.2	+	2	1102	c.71A>T	c.(70-72)GAC>GTC	p.D24V	KILLIN_uc009xti.2_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	24	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(13)|p.0?(12)|p.D24G(4)|p.D24E(2)|p.D24N(2)|p.D24fs*19(2)|p.D24Y(2)|p.D24fs*20(2)|p.D24_L25del(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTCGACTTAGACTTGACCTGT	0.463		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89624297	A	T	89624297	3	4	148	1	0	0	0	0	1	0	0	0	12738	275	10	5	73	5	PTEN	10	89624297	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	11	89624297	45910450	139	81248			2	40		3	3	56	A		1.096091e-07
FAS	355	broad.mit.edu	37	chr10	90773891	90773892	+	Frame_Shift_Ins	INS	-	-	T													tcagatgttgacttgagtaaINSatatatcaccactattgctg							TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr10:90773891_90773892insT	uc001kfr.2	+	9	1038_1039	c.692_693insT	c.(691-693)AAAfs	p.K231fs	FAS_uc010qna.1_RNA|FAS_uc001kfs.2_3'UTR|FAS_uc001kft.2_Frame_Shift_Ins_p.K210fs|FAS_uc010qnb.1_RNA|FAS_uc010qnc.1_RNA|FAS_uc001kfw.2_3'UTR|FAS_uc010qnd.1_RNA|FAS_uc010qne.1_RNA|FAS_uc009xtp.2_RNA	NM_000043	NP_000034	P25445	TNR6_HUMAN	tumor necrosis factor receptor superfamily,	231	Death.|Interaction with HIPK3 (By similarity).|Cytoplasmic (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			upper_aerodigestive_tract(1)|breast(1)	2		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		GACTTGAGTAAATATATCACCA	0.307									Autoimmune_Lymphoproliferative_syndrome_type_I				T	90773892	-	T	90773891	7	5	148	1	0	1	1	0	0	0	0	0	5681	14	1	0	726	0	FAS	10	90773891	Frame_Shift_Ins	INS	-	TCGA-CD-8531-01A-11D-2340-08	1149594	90773891	44760856	140	81249	403	2									
FAS	355	broad.mit.edu	37	chr10	90773892	90773893	+	Frame_Shift_Ins	INS	-	-	T													cagatgttgacttgagtaaaINStatatcaccactattgctgg							TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr10:90773891_90773892A>AT	uc001kfr.3	+	8	1038_1039	c.692_693A>AT	c.(691-693)aaafs	p.K231fs	FAS_uc010qna.2_Non-coding_Transcript|FAS_uc001kft.3_Frame_Shift_Ins_p.K210fs|FAS_uc010qnb.2_Non-coding_Transcript|FAS_uc001kfs.3_3'UTR|FAS_uc010qnc.2_Non-coding_Transcript|FAS_uc010qnd.2_Non-coding_Transcript|FAS_uc010qne.2_Non-coding_Transcript|FAS_uc001kfw.3_3'UTR|FAS_uc009xtp.3_Non-coding_Transcript	NM_000043	NP_000034	P25445	TNR6_HUMAN	Homo sapiens Fas (TNF receptor superfamily, member 6) (FAS), transcript variant 1, mRNA.	231	Death.|Interaction with HIPK3 (By similarity).				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		GACTTGAGTAAATATATCACCA	0.307													T	90773893	-	T	90773892	7	5	148	1	0	1	1	0	0	0	0	0	5681	98	4	0	727	0	FAS	10	90773892	Frame_Shift_Ins	INS	-	TCGA-CD-8531-01A-11D-2340-08	1	90773892	44760855	141	81250	403	2									
GBF1	8729	broad.mit.edu	37	chr10	104140096	104140096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcatggacaagtacatgCacgcaggctccagcgactta	9	12	1	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr10:104140096C>T	uc001kux.1	+	37	5206	c.4966C>T	c.(4966-4968)CAC>TAC	p.H1656Y	GBF1_uc001kuy.1_Missense_Mutation_p.H1652Y|GBF1_uc001kuz.1_Missense_Mutation_p.H1653Y	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1656					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CAAGTACATGCACGCAGGCTC	0.567													T	104140096	C	T	104140096	3	4	148	1	0	0	0	0	1	0	0	0	6271	710	25	2	5108	2	GBF1	10	104140096	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	13366204	104140096	31394651	142	81251											
MUC5B	727897	broad.mit.edu	37	chr11	1275470	1275470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacaaccactactgcacGgcctctgccactgccgctgc	9	18	1	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr11:1275470G>A	uc009ycr.1	+	55	16497	c.16371G>A	c.(16369-16371)ACG>ACA	p.T5457T	MUC5B_uc001ltb.2_Silent_p.T5125T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	5122	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTACTGCACGGCCTCTGCCA	0.597													A	1275470	G	A	1275470	2	1	148	1	0	0	0	0	0	0	0	1	9979	1103	39	1		1	MUC5B	11	1275470	Silent	SNP	G	TCGA-CD-8531-01A-11D-2340-08		1275470	133731046	143	81252											
TRPM5	29850	broad.mit.edu	37	chr11	2435376	2435376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgctccagcagcggttcCggcgcaccagcagggcgaag	14	14	1	0	rs140559697	byFrequency	TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr11:2435376C>T	uc001lwm.3	-	12	1814	c.1805G>A	c.(1804-1806)CGG>CAG	p.R602Q	TRPM5_uc010qxl.1_Missense_Mutation_p.R602Q|TRPM5_uc009ydn.2_Missense_Mutation_p.R604Q	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	602	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCAGCGGTTCCGGCGCACCAG	0.677													T	2435376	C	T	2435376	3	4	148	1	0	0	0	0	1	0	0	0	16586	652	23	1	1744	1	TRPM5	11	2435376	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	1159906	2435376	132571140	144	81253											
ST5	6764	broad.mit.edu	37	chr11	8728732	8728732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgaaaggatagaccaatGcagcggagatcccacgccgg	12	11	1	3			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr11:8728732G>A	uc001mgt.2	-	13	2657	c.2471C>T	c.(2470-2472)GCA>GTA	p.A824V	ST5_uc009yfr.2_Missense_Mutation_p.A404V|ST5_uc001mgu.2_Missense_Mutation_p.A404V|ST5_uc001mgv.2_Missense_Mutation_p.A824V|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Missense_Mutation_p.A337V|ST5_uc009yfs.2_RNA	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	824	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		ATAGACCAATGCAGCGGAGAT	0.602													A	8728732	G	A	8728732	3	1	148	1	0	0	0	0	1	0	0	0	15219	1319	46	2	974	2	ST5	11	8728732	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	6293356	8728732	126277784	145	81254											
MICAL2	9645	broad.mit.edu	37	chr11	12231128	12231128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcattggtgccgatggccGcaggaacaccctggaaggtg	14	11	1	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr11:12231128G>A	uc001mjz.2	+	6	962	c.674G>A	c.(673-675)CGC>CAC	p.R225H	MICAL2_uc010rch.1_Missense_Mutation_p.R225H|MICAL2_uc001mka.2_Missense_Mutation_p.R225H|MICAL2_uc010rci.1_Missense_Mutation_p.R225H|MICAL2_uc001mkb.2_Missense_Mutation_p.R225H|MICAL2_uc001mkc.2_Missense_Mutation_p.R225H|MICAL2_uc001mkd.2_Missense_Mutation_p.R54H	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	225						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		GCCGATGGCCGCAGGAACACC	0.527													A	12231128	G	A	12231128	3	1	148	1	0	0	0	0	1	0	0	0	9570	1087	38	1	688	1	MICAL2	11	12231128	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	3502396	12231128	122775388	146	81255											
MICAL2	9645	broad.mit.edu	37	chr11	12244261	12244261	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagggacacggtacccaaacCtcaactcacactgtgtcagg	9	14	3	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr11:12244261C>G	uc001mjz.2	+	11	1708	c.1420C>G	c.(1420-1422)CTC>GTC	p.L474V	MICAL2_uc010rch.1_Missense_Mutation_p.L474V|MICAL2_uc001mka.2_Missense_Mutation_p.L474V|MICAL2_uc010rci.1_Missense_Mutation_p.L474V|MICAL2_uc001mkb.2_Missense_Mutation_p.L474V|MICAL2_uc001mkc.2_Missense_Mutation_p.L474V|MICAL2_uc001mkd.2_Missense_Mutation_p.L303V|MICAL2_uc010rcj.1_5'UTR	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	474						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		GTACCCAAACCTCAACTCACA	0.557													G	12244261	C	G	12244261	3	3	148	1	0	0	0	0	1	0	0	0	9570	681	24	5	1454	5	MICAL2	11	12244261	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	13133	12244261	122762255	147	81256											
PIK3C2A	5286	broad.mit.edu	37	chr11	17156677	17156677	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccctagttgaactcctgctAgtgtcttctcctccaaacaa	5	15	2	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr11:17156677A>T	uc001mmq.3	-	9	1944	c.1878T>A	c.(1876-1878)ACT>ACA	p.T626T	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Silent_p.T246T|PIK3C2A_uc001mmr.3_Intron|PIK3C2A_uc010rcx.1_Silent_p.T626T	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	626					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	AACTCCTGCTAGTGTCTTCTC	0.328													T	17156677	A	T	17156677	2	4	148	1	0	0	0	0	0	0	0	1	11909	407	15	5		5	PIK3C2A	11	17156677	Silent	SNP	A	TCGA-CD-8531-01A-11D-2340-08	4912416	17156677	117849839	148	81257											
BBOX1	8424	broad.mit.edu	37	chr11	27114876	27114876	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggagaagtttcaaaacttGggaaaaggatgggtttcctc	12	6	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr11:27114876G>T	uc001mre.1	+	5	864	c.496G>T	c.(496-498)GGG>TGG	p.G166W	BBOX1_uc009yih.1_Missense_Mutation_p.G166W|BBOX1_uc001mrg.1_Missense_Mutation_p.G166W	NM_003986	NP_003977	O75936	BODG_HUMAN	gamma-butyrobetaine dioxygenase	166					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1					Succinic acid(DB00139)|Vitamin C(DB00126)	TTCAAAACTTGGGAAAAGGAT	0.423													T	27114876	G	T	27114876	3	4	148	1	0	0	0	0	1	0	0	0	1334	1348	47	5	506	5	BBOX1	11	27114876	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	9958199	27114876	107891640	149	81258											
LGR4	55366	broad.mit.edu	37	chr11	27434338	27434338	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctcaaagtaatacttacagCtcttctagaaaaggaaagtt	6	7	3	1	rs144168526	byFrequency	TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr11:27434338C>G	uc001mrj.3	-	2	740	c.255G>C	c.(253-255)GAG>GAC	p.E85D	LGR4_uc001mrk.3_Intron	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	leucine-rich repeat-containing G protein-coupled	85	LRR 2.|Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1						ATACTTACAGCTCTTCTAGAA	0.333													G	27434338	C	G	27434338	3	3	148	1	0	0	0	0	1	0	0	0	8756	796	28	5	2668	5	LGR4	11	27434338	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	319462	27434338	107572178	150	81259											
MADD	8567	broad.mit.edu	37	chr11	47303141	47303141	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacaggccttggccagcatgAgtctcaacacccagcccatc	8	17	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr11:47303141A>T	uc001ner.1	+	8	1497	c.1306A>T	c.(1306-1308)AGT>TGT	p.S436C	MADD_uc001neq.2_Missense_Mutation_p.S436C|MADD_uc001nev.1_Missense_Mutation_p.S436C|MADD_uc001nes.1_Missense_Mutation_p.S436C|MADD_uc001net.1_Missense_Mutation_p.S436C|MADD_uc009yln.1_Missense_Mutation_p.S436C|MADD_uc001neu.1_Missense_Mutation_p.S436C|MADD_uc001nex.2_Missense_Mutation_p.S436C|MADD_uc001nez.2_Missense_Mutation_p.S436C|MADD_uc001new.2_Missense_Mutation_p.S436C	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	436					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		GGCCAGCATGAGTCTCAACAC	0.512													T	47303141	A	T	47303141	3	4	148	1	0	0	0	0	1	0	0	0	9152	304	11	5	1332	5	MADD	11	47303141	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	19868803	47303141	87703375	151	81260											
SLC22A8	9376	broad.mit.edu	37	chr11	62762176	62762176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggatgtagaggttgactcCaaattcttccacacccatag	9	10	1	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr11:62762176C>T	uc001nwo.2	-	8	1190	c.1054G>A	c.(1054-1056)GGA>AGA	p.G352R	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_Missense_Mutation_p.G352R|SLC22A8_uc009yom.2_Missense_Mutation_p.G229R|SLC22A8_uc010rmm.1_Missense_Mutation_p.G261R|SLC22A8_uc009yon.2_Missense_Mutation_p.G352R	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN	solute carrier family 22 member 8	352	Extracellular (Potential).				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			skin(2)|ovary(1)	3						AGGTTGACTCCAAATTCTTCC	0.527													T	62762176	C	T	62762176	3	4	148	1	0	0	0	0	1	0	0	0	14460	603	21	4	590	4	SLC22A8	11	62762176	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	15459035	62762176	72244340	152	81261											
CDC42BPG	55561	broad.mit.edu	37	chr11	64603908	64603908	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagccctcacccggtgaagTcggtcaagctcctgccgtag	11	16	2	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr11:64603908T>C	uc001obs.3	-	12	1479	c.1479A>G	c.(1477-1479)CGA>CGG	p.R493R		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	493	Potential.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						cccGGTGAAGTCGGTCAAGCT	0.443											OREG0004017	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C	64603908	T	C	64603908	2	2	148	1	0	0	0	0	0	0	0	1	3074	1654	58	3		3	CDC42BPG	11	64603908	Silent	SNP	T	TCGA-CD-8531-01A-11D-2340-08	1841732	64603908	70402608	153	81262											
MRPL49	740	broad.mit.edu	37	chr11	64889890	64889890	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcggggctgcgggctacgGctgttggtgagagcgctgag	20	9	0	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr11:64889890G>A	uc001oda.1	+	1	163	c.72G>A	c.(70-72)CGG>CGA	p.R24R	FAU_uc001ocx.2_5'Flank|FAU_uc001ocy.1_5'Flank|MRPL49_uc001ocz.1_RNA	NM_004927	NP_004918	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49	24					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0						GCGGGCTACGGCTGTTGGTGA	0.592													A	64889890	G	A	64889890	2	1	148	1	0	0	0	0	0	0	0	1	9813	1190	42	2		2	MRPL49	11	64889890	Silent	SNP	G	TCGA-CD-8531-01A-11D-2340-08	285982	64889890	70116626	154	81263											
ODZ4	26011	broad.mit.edu	37	chr11	78413244	78413244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtgtgaaacagccaaagCggtggctgactccagggttg	14	8	0	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr11:78413244C>T	uc001ozl.3	-	28	4877	c.4414G>A	c.(4414-4416)GCT>ACT	p.A1472T	ODZ4_uc009yvb.1_Missense_Mutation_p.A56T	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1472	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						ACAGCCAAAGCGGTGGCTGAC	0.557													T	78413244	C	T	78413244	3	4	148	1	0	0	0	0	1	0	0	0	10837	768	27	1	3923	1	ODZ4	11	78413244	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	13523354	78413244	56593272	155	81264											
FAT3	120114	broad.mit.edu	37	chr11	92086032	92086032	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtgagcagtactgcaaagCtttatgttcacattgagcgc	11	8	1	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr11:92086032C>A	uc001pdj.3	+	1	771	c.754C>A	c.(754-756)CTT>ATT	p.L252I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	252	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TACTGCAAAGCTTTATGTTCA	0.403										TCGA Ovarian(4;0.039)			A	92086032	C	A	92086032	3	1	148	1	0	0	0	0	1	0	0	0	5691	797	28	5	756	5	FAT3	11	92086032	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	13672788	92086032	42920484	156	81265											
FAT3	120114	broad.mit.edu	37	chr11	92088462	92088462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcacgcattggaacaagcGtgctgcaggtgactgctcga	12	11	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr11:92088462G>A	uc001pdj.3	+	1	3201	c.3184G>A	c.(3184-3186)GTG>ATG	p.V1062M		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1062	Cadherin 10.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGAACAAGCGTGCTGCAGGT	0.498										TCGA Ovarian(4;0.039)			A	92088462	G	A	92088462	3	1	148	1	0	0	0	0	1	0	0	0	5691	1145	40	1	3186	1	FAT3	11	92088462	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	2430	92088462	42918054	157	81266											
KBTBD3	143879	broad.mit.edu	37	chr11	105924893	105924893	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaagtgatgttgtacaaagtGtaatgcatgatcaaacaaac	8	5	1	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr11:105924893G>C	uc001pja.2	-	4	1163	c.523C>G	c.(523-525)CAC>GAC	p.H175D	KBTBD3_uc001pjb.2_Missense_Mutation_p.H175D|KBTBD3_uc009yxm.2_Missense_Mutation_p.H96D	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	BTB and kelch domain containing 3	171	BACK.									ovary(1)|central_nervous_system(1)	2		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TGTACAAAGTGTAATGCATGA	0.289													C	105924893	G	C	105924893	3	2	148	1	0	0	0	0	1	0	0	0	7994	1377	48	5	1319	5	KBTBD3	11	105924893	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	13836431	105924893	29081623	158	81267											
TMTC1	83857	broad.mit.edu	37	chr12	29757182	29757182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttgctggctggaatgaaCgggaacaccaggaacaacaa	13	8	0	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr12:29757182C>T	uc001rjb.2	-	7	1329	c.855G>A	c.(853-855)CCG>CCA	p.P285P	TMTC1_uc001riz.2_Silent_p.P42P|TMTC1_uc001rja.2_Silent_p.P129P|TMTC1_uc001rjc.1_Silent_p.P347P	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	393	Helical; (Potential).					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CTGGAATGAACGGGAACACCA	0.468													T	29757182	C	T	29757182	2	4	148	1	0	0	0	0	0	0	0	1	16257	523	19	1		1	TMTC1	12	29757182	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08		29757182	104094713	159	81268											
SYT10	341359	broad.mit.edu	37	chr12	33538177	33538177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgtcatacgcccagccGtcggtaggtaacaaagggaa	11	10	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr12:33538177G>A	uc001rll.1	-	4	1424	c.1127C>T	c.(1126-1128)ACG>ATG	p.T376M	SYT10_uc009zju.1_Missense_Mutation_p.T186M	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	376	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ACGCCCAGCCGTCGGTAGGTA	0.443													A	33538177	G	A	33538177	3	1	148	1	0	0	0	0	1	0	0	0	15463	1145	40	1	460	1	SYT10	12	33538177	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	3780995	33538177	100313718	160	81269											
KIF21A	55605	broad.mit.edu	37	chr12	39726475	39726475	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaccctgcgctcaaggAgctgccacttcatgcgagct	11	14	2	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr12:39726475A>C	uc001rly.2	-	20	2920	c.2774T>G	c.(2773-2775)CTC>CGC	p.L925R	KIF21A_uc001rlv.2_5'Flank|KIF21A_uc001rlw.2_Missense_Mutation_p.L242R|KIF21A_uc001rlx.2_Missense_Mutation_p.L912R|KIF21A_uc001rlz.2_Missense_Mutation_p.L889R|KIF21A_uc010skl.1_Missense_Mutation_p.L912R	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	925					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				GCGCTCAAGGAGCTGCCACTT	0.428													C	39726475	A	C	39726475	3	2	148	1	0	0	0	0	1	0	0	0	8288	304	11	5	2326	5	KIF21A	12	39726475	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	6188298	39726475	94125420	161	81270											
SENP1	29843	broad.mit.edu	37	chr12	48441861	48441861	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctttctaaagtccacAacctgagaataagaaaaaaa	4	8	3	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr12:48441861A>G	uc001rqx.2	-	15	2060	c.1614T>C	c.(1612-1614)GTT>GTC	p.V538V	SENP1_uc001rqw.2_Silent_p.V538V|SENP1_uc001rqy.2_Silent_p.V339V|SENP1_uc001rqz.2_Silent_p.V339V|SENP1_uc009zkx.2_Silent_p.V538V	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	sentrin/SUMO-specific protease 1	538	Protease.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			pancreas(2)|lung(1)	3		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TAAAGTCCACAACCTGAGAAT	0.398													G	48441861	A	G	48441861	2	3	148	1	0	0	0	0	0	0	0	1	14046	117	5	3		3	SENP1	12	48441861	Silent	SNP	A	TCGA-CD-8531-01A-11D-2340-08	8715386	48441861	85410034	162	81271											
ATP5B	506	broad.mit.edu	37	chr12	57037231	57037231	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gataacaccagattcaatcaTttcatggtataaatcattgc	5	8	4	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr12:57037231T>A	uc001slr.2	-	5	853	c.748A>T	c.(748-750)ATG>TTG	p.M250L		NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	250					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1						GATTCAATCATTTCATGGTAT	0.433													A	57037231	T	A	57037231	3	1	148	1	0	0	0	0	1	0	0	0	1148	1493	52	5	865	5	ATP5B	12	57037231	Missense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08	8595370	57037231	76814664	163	81272											
GRIP1	23426	broad.mit.edu	37	chr12	66788079	66788079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgatgccaaggggcccccCgtagcgtttaagctccacgg	13	13	0	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr12:66788079C>T	uc001stk.2	-	16	2123	c.1882G>A	c.(1882-1884)GGG>AGG	p.G628R	GRIP1_uc010sta.1_Missense_Mutation_p.G572R|GRIP1_uc001stj.2_Missense_Mutation_p.G410R|GRIP1_uc001stl.1_Missense_Mutation_p.G520R|GRIP1_uc001stm.2_Missense_Mutation_p.G628R	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	680	PDZ 6.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AGGGGCCCCCCGTAGCGTTTA	0.408													T	66788079	C	T	66788079	3	4	148	1	0	0	0	0	1	0	0	0	6787	652	23	1	1384	1	GRIP1	12	66788079	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	9750848	66788079	67063816	164	81273											
PTPRB	5787	broad.mit.edu	37	chr12	70960283	70960283	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagttaggatctgtatcttgTatttcttgcctggtgttaga	10	6	3	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr12:70960283T>A	uc001swb.3	-	13	3212	c.3182A>T	c.(3181-3183)TAC>TTC	p.Y1061F	PTPRB_uc010sto.1_Intron|PTPRB_uc010stp.1_Missense_Mutation_p.Y971F|PTPRB_uc001swc.3_Missense_Mutation_p.Y1279F|PTPRB_uc001swa.3_Missense_Mutation_p.Y1191F|PTPRB_uc001swd.3_Missense_Mutation_p.Y1278F|PTPRB_uc009zrr.1_Missense_Mutation_p.Y1158F	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1061	Fibronectin type-III 12.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTGTATCTTGTATTTCTTGCC	0.443													A	70960283	T	A	70960283	3	1	148	1	0	0	0	0	1	0	0	0	12796	1638	57	5	2891	5	PTPRB	12	70960283	Missense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08	4172204	70960283	62891612	165	81274											
LRRIQ1	84125	broad.mit.edu	37	chr12	85441135	85441135	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagataaagagaaacaaactCtcaaagctcagagggataga	9	6	2	4			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr12:85441135C>T	uc001tac.2	+	6	676	c.565C>T	c.(565-567)CTC>TTC	p.L189F	LRRIQ1_uc001tab.1_Missense_Mutation_p.L189F|LRRIQ1_uc001taa.1_Missense_Mutation_p.L189F|LRRIQ1_uc001tad.2_Missense_Mutation_p.L97F	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	189	Glu-rich.									ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		GAAACAAACTCTCAAAGCTCA	0.328													T	85441135	C	T	85441135	3	4	148	1	0	0	0	0	1	0	0	0	9029	913	32	4	583	4	LRRIQ1	12	85441135	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	14480852	85441135	48410760	166	81275											
TRPV4	59341	broad.mit.edu	37	chr12	110221548	110221548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggttcgagttcttgttcaGttccaccacgcggggtacca	12	12	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr12:110221548G>A	uc001tpj.1	-	15	2589	c.2494C>T	c.(2494-2496)CTG>TTG	p.L832L	TRPV4_uc001tpg.1_Silent_p.L798L|TRPV4_uc001tph.1_Silent_p.L785L|TRPV4_uc001tpi.1_Silent_p.L725L|TRPV4_uc001tpk.1_Silent_p.L832L|TRPV4_uc001tpl.1_Silent_p.L772L	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	832	Cytoplasmic (Potential).				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TTCTTGTTCAGTTCCACCACG	0.587													A	110221548	G	A	110221548	2	1	148	1	0	0	0	0	0	0	0	1	16595	1020	36	4		4	TRPV4	12	110221548	Silent	SNP	G	TCGA-CD-8531-01A-11D-2340-08	24780413	110221548	23630347	167	81276											
CUX2	23316	broad.mit.edu	37	chr12	111745053	111745053	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactatgaggaaattaaaacGgagctgaggtaccatgtggg	14	5	0	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr12:111745053G>A	uc001tsa.1	+	12	1254	c.1101G>A	c.(1099-1101)ACG>ACA	p.T367T		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	367	Potential.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						AAATTAAAACGGAGCTGAGGT	0.527													A	111745053	G	A	111745053	2	1	148	1	0	0	0	0	0	0	0	1	4065	1103	39	1		1	CUX2	12	111745053	Silent	SNP	G	TCGA-CD-8531-01A-11D-2340-08	1523505	111745053	22106842	168	81277											
DTX1	1840	broad.mit.edu	37	chr12	113496170	113496170	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctgaaggaggacgctcgcgGttccgtggtcctggggcagg	19	10	0	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr12:113496170G>C	uc001tuk.1	+	1	509	c.173G>C	c.(172-174)GGT>GCT	p.G58A		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	58	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						GACGCTCGCGGTTCCGTGGTC	0.637													C	113496170	G	C	113496170	3	2	148	1	0	0	0	0	1	0	0	0	4793	1261	44	5	175	5	DTX1	12	113496170	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	1751117	113496170	20355725	169	81278											
DTX1	1840	broad.mit.edu	37	chr12	113496241	113496241	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgcagtccatgcaccagTttcgccaggacacaggtgag	11	13	0	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr12:113496241T>C	uc001tuk.1	+	1	580	c.244T>C	c.(244-246)TTT>CTT	p.F82L		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	82	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						CATGCACCAGTTTCGCCAGGA	0.607													C	113496241	T	C	113496241	3	2	148	1	0	0	0	0	1	0	0	0	4793	1725	60	3	246	3	DTX1	12	113496241	Missense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08	71	113496241	20355654	170	81279											
TBX5	6910	broad.mit.edu	37	chr12	114832618	114832618	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgcagaacgctgtattTtttgagccaaatccattatt	8	7	0	3			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr12:114832618T>G	uc001tvo.2	-	6	1086	c.591A>C	c.(589-591)AAA>AAC	p.K197N	TBX5_uc001tvp.2_Missense_Mutation_p.K197N|TBX5_uc001tvq.2_Missense_Mutation_p.K147N|TBX5_uc010syv.1_Missense_Mutation_p.K197N	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	197	T-box.				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		ACGCTGTATTTTTTGAGCCAA	0.403													G	114832618	T	G	114832618	3	3	148	1	0	0	0	0	1	0	0	0	15658	1838	64	5	1048	5	TBX5	12	114832618	Missense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08	1336377	114832618	19019277	171	81280											
CCDC64	92558	broad.mit.edu	37	chr12	120530908	120530908	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacagcgctgggcggggGgatgagcccagcatcgctga	18	12	0	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr12:120530908G>A	uc001txl.1	+	9	1690	c.1665G>A	c.(1663-1665)GGG>GGA	p.G555G	CCDC64_uc009zwv.1_RNA|CCDC64_uc010sze.1_Silent_p.G226G|CCDC64_uc010szf.1_Silent_p.G252G	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	555					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			ovary(2)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGGGCGGGGGGATGAGCCCA	0.592													A	120530908	G	A	120530908	2	1	148	1	0	0	0	0	0	0	0	1	2835	1219	43	4		4	CCDC64	12	120530908	Silent	SNP	G	TCGA-CD-8531-01A-11D-2340-08	5698290	120530908	13320987	172	81281											
FZD10	11211	broad.mit.edu	37	chr12	130648561	130648561	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctacttccacctggcagcCtgggccatcccggcggtgaa	12	15	0	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr12:130648561C>A	uc001uii.2	+	1	1530	c.1074C>A	c.(1072-1074)GCC>GCA	p.A358A	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	358	Helical; Name=4; (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		ACCTGGCAGCCTGGGCCATCC	0.662													A	130648561	C	A	130648561	2	1	148	1	0	0	0	0	0	0	0	1	6129	668	24	5		5	FZD10	12	130648561	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08	10117653	130648561	3203334	173	81282											
RIMBP2	23504	broad.mit.edu	37	chr12	130923044	130923044	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctggacggtaacatcttGtgggggtgctgggggtcctg	18	8	1	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr12:130923044G>A	uc001uil.2	-	9	1635	c.1471C>T	c.(1471-1473)CAA>TAA	p.Q491*	RIMBP2_uc001uim.2_Nonsense_Mutation_p.Q399*|RIMBP2_uc001uin.1_Nonsense_Mutation_p.Q150*	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	491	Fibronectin type-III 3.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GTAACATCTTGTGGGGGTGCT	0.667													A	130923044	G	A	130923044	4	1	148	1	0	0	0	0	0	1	0	0	13363	1386	48	4	1731	4	RIMBP2	12	130923044	Nonsense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	274483	130923044	2928851	174	81283											
FRY	10129	broad.mit.edu	37	chr13	32868606	32868606	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattcagacggcgcgtggtcCgagcccaccttcacgtccac	10	16	2	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr13:32868606C>T	uc001utx.2	+	60	9178	c.8682C>T	c.(8680-8682)TCC>TCT	p.S2894S	FRY_uc010tdw.1_RNA|FRY_uc001utz.2_Silent_p.S425S|FRY_uc010tdx.1_Silent_p.S264S	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2894					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCGCGTGGTCCGAGCCCACCT	0.547													T	32868606	C	T	32868606	2	4	148	1	0	0	0	0	0	0	0	1	6063	639	23	1		1	FRY	13	32868606	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08		32868606	82301272	175	81284											
SMAD9	4093	broad.mit.edu	37	chr13	37439852	37439852	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagttcatagtaggcgacCgagcaccagtgctggggctc	13	11	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr13:37439852C>T	uc001uvw.2	-	5	1168	c.825G>A	c.(823-825)TCG>TCA	p.S275S	SMAD9_uc001uvx.2_Silent_p.S238S|SMAD9_uc010tep.1_Silent_p.S68S	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	275	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AGTAGGCGACCGAGCACCAGT	0.507													T	37439852	C	T	37439852	2	4	148	1	0	0	0	0	0	0	0	1	14764	639	23	1		1	SMAD9	13	37439852	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08	4571246	37439852	77730026	176	81285											
CAB39L	81617	broad.mit.edu	37	chr13	49906110	49906110	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatgaaaggcttcaaactgGatgttgggacttttatcccg	10	8	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr13:49906110G>A	uc001vcw.2	-	8	1305	c.807C>T	c.(805-807)ATC>ATT	p.I269I	CAB39L_uc001vcx.2_Silent_p.I269I|CAB39L_uc010adf.2_Silent_p.I266I	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	269					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding				0		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		CTTCAAACTGGATGTTGGGAC	0.418													A	49906110	G	A	49906110	2	1	148	1	0	0	0	0	0	0	0	1	2526	1164	41	4		4	CAB39L	13	49906110	Silent	SNP	G	TCGA-CD-8531-01A-11D-2340-08	12466258	49906110	65263768	177	81286											
C13orf1	57213	broad.mit.edu	37	chr13	50495695	50495695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attcaagtatacatttaattCgacatggtcataagtaatac	5	6	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr13:50495695C>T	uc001vdl.2	-	4	674	c.412G>A	c.(412-414)GAA>AAA	p.E138K	C13orf1_uc001vdm.2_Missense_Mutation_p.E99K|C13orf1_uc010tgm.1_RNA|C13orf1_uc010adj.2_Missense_Mutation_p.E138K	NM_020456	NP_065189	Q5W111	SPRY7_HUMAN	chromosome 13 open reading frame 1 isoform 1	138	B30.2/SPRY.										0		Lung NSC(96;7.5e-06)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Acute lymphoblastic leukemia(7;0.117)		GBM - Glioblastoma multiforme(99;1.72e-10)|COAD - Colon adenocarcinoma(199;0.208)		ACATTTAATTCGACATGGTCA	0.368													T	50495695	C	T	50495695	3	4	148	1	0	0	0	0	1	0	0	0	1717	893	31	1	186	1	C13orf1	13	50495695	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	589585	50495695	64674183	178	81287											
PCDH20	64881	broad.mit.edu	37	chr13	61985915	61985915	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacagcattcatgcctgtgtCtttgtcgacagcatagactt	9	10	2	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr13:61985915C>T	uc001vid.3	-	2	2681	c.2317G>A	c.(2317-2319)GAC>AAC	p.D773N	PCDH20_uc010thj.1_Missense_Mutation_p.D773N	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	746	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ATGCCTGTGTCTTTGTCGACA	0.453													T	61985915	C	T	61985915	3	4	148	1	0	0	0	0	1	0	0	0	11515	913	32	4	542	4	PCDH20	13	61985915	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	11490220	61985915	53183963	179	81288											
KLF12	11278	broad.mit.edu	37	chr13	74420392	74420392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttattgacaagtccactGgctcagtttgtgtttggaag	11	6	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr13:74420392G>A	uc001vjf.2	-	4	464	c.242C>T	c.(241-243)CCA>CTA	p.P81L	KLF12_uc010aeq.2_Missense_Mutation_p.P81L|KLF12_uc001vjg.3_Missense_Mutation_p.P81L	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	81					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		CAAGTCCACTGGCTCAGTTTG	0.498													A	74420392	G	A	74420392	3	1	148	1	0	0	0	0	1	0	0	0	8340	1348	47	4	986	4	KLF12	13	74420392	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	12434477	74420392	40749486	180	81289											
SLITRK1	114798	broad.mit.edu	37	chr13	84454002	84454002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcagcacttcggaaccCaagcgttctgcccactgctt	7	16	3	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr13:84454002C>T	uc001vlk.2	-	1	2527	c.1641G>A	c.(1639-1641)TTG>TTA	p.L547L		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	547	LRRCT 2.|Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CTTCGGAACCCAAGCGTTCTG	0.532													T	84454002	C	T	84454002	2	4	148	1	0	0	0	0	0	0	0	1	14742	593	21	4		4	SLITRK1	13	84454002	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08	10033610	84454002	30715876	181	81290											
SLITRK5	26050	broad.mit.edu	37	chr13	88329436	88329436	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaaggcgcccaaaaaatTcgctgagaccgacatgcgct	10	12	0	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr13:88329436T>A	uc001vln.2	+	2	2012	c.1793T>A	c.(1792-1794)TTC>TAC	p.F598Y	SLITRK5_uc010tic.1_Missense_Mutation_p.F357Y	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	598	LRRCT 2.|Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCCAAAAAATTCGCTGAGACC	0.542													A	88329436	T	A	88329436	3	1	148	1	0	0	0	0	1	0	0	0	14746	1783	62	5	1795	5	SLITRK5	13	88329436	Missense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08	3875434	88329436	26840442	182	81291											
FAM155A	728215	broad.mit.edu	37	chr13	108518853	108518853	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttctgagccctctcggaaTcgatgaacggtttctcgttc	9	11	3	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr13:108518853T>C	uc001vql.2	-	1	608	c.92A>G	c.(91-93)GAT>GGT	p.D31G		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	31						integral to membrane	binding			skin(1)	1						CCTCTCGGAATCGATGAACGG	0.527													C	108518853	T	C	108518853	3	2	148	1	0	0	0	0	1	0	0	0	5465	1435	50	3	1296	3	FAM155A	13	108518853	Missense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08	20189417	108518853	6651025	183	81292											
ATP11A	23250	broad.mit.edu	37	chr13	113470426	113470426	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtcatggttaaggaggaCgagacctttccctgcgactt	11	9	1	1	rs140428971		TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr13:113470426C>T	uc001vsi.3	+	6	559	c.471C>T	c.(469-471)GAC>GAT	p.D157D	ATP11A_uc001vsj.3_Silent_p.D157D|ATP11A_uc001vsm.1_Silent_p.D33D	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	157	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TTAAGGAGGACGAGACCTTTC	0.557													T	113470426	C	T	113470426	2	4	148	1	0	0	0	0	0	0	0	1	1119	535	19	1		1	ATP11A	13	113470426	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08	4951573	113470426	1699452	184	81293											
NFATC4	4776	broad.mit.edu	37	chr14	24845265	24845265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttttatgtctccaatgggCggaggaaacgcagtcctacc	10	11	1	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr14:24845265C>T	uc001wpc.2	+	8	2335	c.2014C>T	c.(2014-2016)CGG>TGG	p.R672W	NFATC4_uc010tok.1_Missense_Mutation_p.R735W|NFATC4_uc010tol.1_Missense_Mutation_p.R735W|NFATC4_uc010alr.2_Missense_Mutation_p.R735W|NFATC4_uc010tom.1_Missense_Mutation_p.R685W|NFATC4_uc010ton.1_Missense_Mutation_p.R685W|NFATC4_uc010too.1_Missense_Mutation_p.R685W|NFATC4_uc010alt.2_Missense_Mutation_p.R704W|NFATC4_uc010top.1_Missense_Mutation_p.R704W|NFATC4_uc010toq.1_Missense_Mutation_p.R704W|NFATC4_uc010tor.1_Missense_Mutation_p.R672W|NFATC4_uc010tos.1_Missense_Mutation_p.R602W|NFATC4_uc010tot.1_Missense_Mutation_p.R660W|NFATC4_uc010tou.1_Missense_Mutation_p.R602W|NFATC4_uc010tov.1_Missense_Mutation_p.R660W|NFATC4_uc010tow.1_Missense_Mutation_p.R602W|NFATC4_uc010alv.2_Missense_Mutation_p.R660W|NFATC4_uc010tox.1_Missense_Mutation_p.R602W|NFATC4_uc001wpd.2_Missense_Mutation_p.R207W|NFATC4_uc010toy.1_Missense_Mutation_p.R207W|NFATC4_uc010toz.1_Missense_Mutation_p.R207W|NFATC4_uc010tpa.1_5'UTR|NFATC4_uc010tpb.1_5'UTR	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	672	Nuclear localization signal.|IPT/TIG.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		CTCCAATGGGCGGAGGAAACG	0.567													T	24845265	C	T	24845265	3	4	148	1	0	0	0	0	1	0	0	0	10365	759	27	1	2237	1	NFATC4	14	24845265	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08		24845265	82504275	185	81294											
PLEKHH1	57475	broad.mit.edu	37	chr14	68045912	68045912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagcggaccctgcggaccGgggagcgggaagccaggcca	19	12	0	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr14:68045912G>A	uc001xjl.1	+	21	3053	c.2911G>A	c.(2911-2913)GGG>AGG	p.G971R	PLEKHH1_uc010tsw.1_Missense_Mutation_p.G539R|PLEKHH1_uc001xjn.1_Missense_Mutation_p.G486R|PLEKHH1_uc010tsx.1_5'UTR|PLEKHH1_uc001xjo.1_5'Flank|PLEKHH1_uc001xjp.1_5'Flank	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	971	MyTH4.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CCTGCGGACCGGGGAGCGGGA	0.602													A	68045912	G	A	68045912	3	1	148	1	0	0	0	0	1	0	0	0	12076	1116	39	1	2989	1	PLEKHH1	14	68045912	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	43200647	68045912	39303628	186	81295											
ZFYVE1	53349	broad.mit.edu	37	chr14	73459883	73459883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagatgactcccgggtgccGgggagaacgggtggtgttat	18	7	0	3			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr14:73459883G>A	uc001xnm.2	-	4	1811	c.1171C>T	c.(1171-1173)CGG>TGG	p.R391W	ZFYVE1_uc010arj.2_Missense_Mutation_p.R391W	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1 isoform 1	391						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			skin(1)	1		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CCCGGGTGCCGGGGAGAACGG	0.567													A	73459883	G	A	73459883	3	1	148	1	0	0	0	0	1	0	0	0	17660	1115	39	1	1198	1	ZFYVE1	14	73459883	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	5413971	73459883	33889657	187	81296											
BCL11B	64919	broad.mit.edu	37	chr14	99641074	99641074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttctcggacgggatgagcGcggcgggcggcagctccagg	19	12	1	1	rs115625258	by1000genomes	TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr14:99641074G>A	uc001yga.2	-	4	2366	c.2099C>T	c.(2098-2100)GCG>GTG	p.A700V	BCL11B_uc001ygb.2_Missense_Mutation_p.A629V	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	700						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CGGGATGAGCGCGGCGGGCGG	0.701			T	TLX3	T-ALL								A	99641074	G	A	99641074	3	1	148	1	0	0	0	0	1	0	0	0	1364	1087	38	1	589	1	BCL11B	14	99641074	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	26181191	99641074	7708466	188	81297											
YY1	7528	broad.mit.edu	37	chr14	100728767	100728767	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaatacctggcattgAcctctcagatcccaaacaac	8	12	1	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr14:100728767A>G	uc001ygy.1	+	2	1286	c.806A>G	c.(805-807)GAC>GGC	p.D269G		NM_003403	NP_003394	P25490	TYY1_HUMAN	YY1 transcription factor	269	Involved in nuclear matrix association.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding				0		Melanoma(154;0.152)				CCTGGCATTGACCTCTCAGAT	0.393													G	100728767	A	G	100728767	3	3	148	1	0	0	0	0	1	0	0	0	17504	275	10	3	812	3	YY1	14	100728767	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	1087693	100728767	6620773	189	81298											
CDC42BPB	9578	broad.mit.edu	37	chr14	103430900	103430900	+	Frame_Shift_Del	DEL	C	C	-													ctcctggacaagctgcttggCccggatctccgcctccaggg							TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr14:103430900delC	uc001ymi.1	-	19	2897	c.2665delG	c.(2665-2667)GCCfs	p.A889fs	CDC42BPB_uc001ymj.1_Frame_Shift_Del_p.A17fs	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	889	Potential.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AGCTGCTTGGCCCGGATCTCC	0.637													-	103430900	C	-	103430900	7	5	148	1	0	1	0	1	0	0	0	0	3073	739	26	0	2546	0	CDC42BPB	14	103430900	Frame_Shift_Del	DEL	C	TCGA-CD-8531-01A-11D-2340-08	2702133	103430900	3918640	190	81299											
AHNAK2	113146	broad.mit.edu	37	chr14	105412335	105412335	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcagacaccccgaacgaCggcatcttgaacttgggcat	13	12	1	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr14:105412335C>T	uc010axc.1	-	7	9573	c.9453G>A	c.(9451-9453)CCG>CCA	p.P3151P	AHNAK2_uc001ypx.2_Silent_p.P3051P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3151						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)			CCCCGAACGACGGCATCTTGA	0.602													T	105412335	C	T	105412335	2	4	148	1	0	0	0	0	0	0	0	1	415	523	19	1		1	AHNAK2	14	105412335	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08	1981435	105412335	1937205	191	81300											
OR4M2	390538	broad.mit.edu	37	chr15	22368747	22368747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagaccctcatctgacctctCctatgtatttcctgttggct	6	13	3	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr15:22368747C>T	uc010tzu.1	+	1	172	c.172C>T	c.(172-174)CCT>TCT	p.P58S	LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	58	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTGACCTCTCCTATGTATTT	0.398													T	22368747	C	T	22368747	3	4	148	1	0	0	0	0	1	0	0	0	11076	855	30	4	174	4	OR4M2	15	22368747	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08		22368747	80162645	192	81301											
TJP1	7082	broad.mit.edu	37	chr15	30010720	30010720	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctcaaaatgacctgctctaGaggtaaatccttggggtggt	12	8	2	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr15:30010720G>A	uc001zcr.2	-	21	4101	c.3626C>T	c.(3625-3627)TCT>TTT	p.S1209F	TJP1_uc010azl.2_Missense_Mutation_p.S1197F|TJP1_uc001zcq.2_Missense_Mutation_p.S1133F|TJP1_uc001zcs.2_Missense_Mutation_p.S1129F	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1209					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ACCTGCTCTAGAGGTAAATCC	0.522													A	30010720	G	A	30010720	3	1	148	1	0	0	0	0	1	0	0	0	15926	942	33	4	1652	4	TJP1	15	30010720	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	7641973	30010720	72520672	193	81302											
THBS1	7057	broad.mit.edu	37	chr15	39874438	39874438	+	Frame_Shift_Del	DEL	G	G	-													ttgacatctttgaactcaccGgggccgcccgcaaggggtct							TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr15:39874438delG	uc001zkh.2	+	3	291	c.112delG	c.(112-114)GGGfs	p.G38fs		NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	38	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TGAACTCACCGGGGCCGCCCG	0.612													-	39874438	G	-	39874438	7	5	148	1	0	1	0	1	0	0	0	0	15850	1116	39	0	118	0	THBS1	15	39874438	Frame_Shift_Del	DEL	G	TCGA-CD-8531-01A-11D-2340-08	9863718	39874438	62656954	194	81303											
PLCB2	5330	broad.mit.edu	37	chr15	40590080	40590080	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggcctggatacgcacgaGtccacatggttctcaaacga	11	11	1	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr15:40590080G>A	uc001zld.2	-	12	1537	c.1236C>T	c.(1234-1236)GAC>GAT	p.D412D	PLCB2_uc010bbo.2_Silent_p.D412D|PLCB2_uc010ucm.1_Silent_p.D412D	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	412	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		ATACGCACGAGTCCACATGGT	0.557													A	40590080	G	A	40590080	2	1	148	1	0	0	0	0	0	0	0	1	12028	1020	36	4		4	PLCB2	15	40590080	Silent	SNP	G	TCGA-CD-8531-01A-11D-2340-08	715642	40590080	61941312	195	81304											
MGA	23269	broad.mit.edu	37	chr15	42003115	42003115	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttccccttctacctcttaTtctttgaaacctcattctgt	2	13	5	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr15:42003115T>G	uc001zog.1	+	8	2743	c.2652T>G	c.(2650-2652)TAT>TAG	p.Y884*	MGA_uc010ucy.1_Nonsense_Mutation_p.Y884*|MGA_uc010ucz.1_Nonsense_Mutation_p.Y884*	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 2	884						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CTACCTCTTATTCTTTGAAAC	0.418													G	42003115	T	G	42003115	4	3	148	1	0	0	0	0	0	1	0	0	9540	1500	52	5	2678	5	MGA	15	42003115	Nonsense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08	1413035	42003115	60528277	196	81305											
MAPKBP1	23005	broad.mit.edu	37	chr15	42111038	42111038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgcatatttgtgtggcGcctgagctctgagatgacca	12	10	1	3			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr15:42111038G>A	uc001zok.3	+	21	2478	c.2192G>A	c.(2191-2193)CGC>CAC	p.R731H	MAPKBP1_uc001zoj.3_Missense_Mutation_p.R725H|MAPKBP1_uc010bcj.2_Missense_Mutation_p.R232H|MAPKBP1_uc010bci.2_Missense_Mutation_p.R725H|MAPKBP1_uc010udb.1_Missense_Mutation_p.R564H|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Missense_Mutation_p.R232H	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	731	WD 12.									central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TTTGTGTGGCGCCTGAGCTCT	0.592													A	42111038	G	A	42111038	3	1	148	1	0	0	0	0	1	0	0	0	9292	1087	38	1	2270	1	MAPKBP1	15	42111038	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	107923	42111038	60420354	197	81306											
WDR76	79968	broad.mit.edu	37	chr15	44120184	44120184	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taaatgaatataaagaaaatCaaaacatcgcttatgtgtct	5	5	2	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr15:44120184C>T	uc001zti.1	+	2	105	c.82C>T	c.(82-84)CAA>TAA	p.Q28*		NM_024908	NP_079184	Q9H967	WDR76_HUMAN	WD repeat domain 76	28											0		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TAAAGAAAATCAAAACATCGC	0.358													T	44120184	C	T	44120184	4	4	148	1	0	0	0	0	0	1	0	0	17323	827	29	4	88	4	WDR76	15	44120184	Nonsense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	2009146	44120184	58411208	198	81307											
SIN3A	25942	broad.mit.edu	37	chr15	75703974	75703974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggatggggccgttcccaaCgagattgtcactggtgtgtg	15	8	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr15:75703974C>T	uc002bai.2	-	6	1126	c.867G>A	c.(865-867)TCG>TCA	p.S289S	SIN3A_uc002baj.2_Silent_p.S289S|SIN3A_uc010uml.1_Silent_p.S289S	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	289	Interaction with REST (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						CCGTTCCCAACGAGATTGTCA	0.522													T	75703974	C	T	75703974	2	4	148	1	0	0	0	0	0	0	0	1	14325	523	19	1		1	SIN3A	15	75703974	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08	31583790	75703974	26827418	199	81308											
RLBP1	6017	broad.mit.edu	37	chr15	89760390	89760390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggcccacgttgaacttccGtgcgcggatgaagcgcagga	14	12	0	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr15:89760390G>A	uc002bnl.2	-	5	687	c.307C>T	c.(307-309)CGG>TGG	p.R103W		NM_000326	NP_000317	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	103					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)	1	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	TTGAACTTCCGTGCGCGGATG	0.672													A	89760390	G	A	89760390	3	1	148	1	0	0	0	0	1	0	0	0	13388	1144	40	1	666	1	RLBP1	15	89760390	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	14056416	89760390	12771002	200	81309											
TRAF7	84231	broad.mit.edu	37	chr16	2223541	2223541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggagttccggcgggacGcatccatgttaaatgtgagc	13	9	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr16:2223541G>A	uc002cow.2	+	11	1171	c.1072G>A	c.(1072-1074)GCA>ACA	p.A358T		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	358					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						CCGGCGGGACGCATCCATGTT	0.672													A	2223541	G	A	2223541	3	1	148	1	0	0	0	0	1	0	0	0	16443	1087	38	1	1110	1	TRAF7	16	2223541	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08		2223541	88131212	201	81310											
SYT17	51760	broad.mit.edu	37	chr16	19278368	19278368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgagctgagtgtgaccgCgtgtctcctgcctccctgga	12	15	1	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr16:19278368C>T	uc002dfw.2	+	8	1726	c.1395C>T	c.(1393-1395)CGC>CGT	p.R465R	SYT17_uc002dfx.2_Silent_p.R404R|SYT17_uc002dfy.2_Silent_p.R461R	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	B/K protein	465						membrane|synaptic vesicle	transporter activity			ovary(1)	1						AGTGTGACCGCGTGTCTCCTG	0.542													T	19278368	C	T	19278368	2	4	148	1	0	0	0	0	0	0	0	1	15470	755	27	1		1	SYT17	16	19278368	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08	17054827	19278368	71076385	202	81311											
GPR139	124274	broad.mit.edu	37	chr16	20043163	20043163	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggggctacttgttatggaaAagttatgattggtgtagaac	13	3	0	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr16:20043163A>T	uc002dgu.1	-	2	1118	c.956T>A	c.(955-957)TTT>TAT	p.F319Y	GPR139_uc010vaw.1_Missense_Mutation_p.F226Y	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	319	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)	2						TGTTATGGAAAAGTTATGATT	0.478													T	20043163	A	T	20043163	3	4	148	1	0	0	0	0	1	0	0	0	6648	14	1	5	109	5	GPR139	16	20043163	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	764795	20043163	70311590	203	81312											
CORO1A	11151	broad.mit.edu	37	chr16	30199729	30199729	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacccaccgcagggcccgaCcctgccctcacggctgagga	11	20	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr16:30199729C>A	uc002dww.2	+	10	1235	c.1113C>A	c.(1111-1113)GAC>GAA	p.D371E	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Missense_Mutation_p.D371E|CORO1A_uc010bzr.2_Intron|CORO1A_uc002dwx.2_Missense_Mutation_p.D265E|CORO1A_uc002dwy.1_3'UTR|LOC606724_uc002dwz.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	371					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity				0						CAGGGCCCGACCCTGCCCTCA	0.662													A	30199729	C	A	30199729	3	1	148	1	0	0	0	0	1	0	0	0	3753	506	18	5	1147	5	CORO1A	16	30199729	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	10156566	30199729	60155024	204	81313											
MT1M	4499	broad.mit.edu	37	chr16	56667308	56667308	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagagtgcaaatgcacctccTgcaagaagagtgagtgcggg	14	8	0	4			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr16:56667308T>A	uc002ejn.2	+	2	195	c.85T>A	c.(85-87)TGC>AGC	p.C29S	MT1A_uc002eji.2_Intron|MT1M_uc010vhe.1_RNA|uc002ejo.1_5'Flank|uc002ejp.1_5'Flank	NM_176870	NP_789846	Q8N339	MT1M_HUMAN	metallothionein 1M	29	Beta.	Divalent metal cation; cluster B.					metal ion binding			ovary(1)	1						ATGCACCTCCTGCAAGAAGAG	0.587													A	56667308	T	A	56667308	3	1	148	1	0	0	0	0	1	0	0	0	9903	1580	55	5	91	5	MT1M	16	56667308	Missense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08	26467579	56667308	33687445	205	81314											
SLC38A7	55238	broad.mit.edu	37	chr16	58706104	58706104	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggataggacaggagcacGtcaggatccacagcagctcc	14	11	1	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr16:58706104G>A	uc002eod.1	-	9	1320	c.927C>T	c.(925-927)GAC>GAT	p.D309D	SLC38A7_uc002eob.1_RNA|SLC38A7_uc002eoc.1_Intron|SLC38A7_uc010vil.1_Silent_p.D220D|SLC38A7_uc002eoe.1_Silent_p.D309D	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	309					amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1						ACAGGAGCACGTCAGGATCCA	0.612													A	58706104	G	A	58706104	2	1	148	1	0	0	0	0	0	0	0	1	14609	1136	40	1		1	SLC38A7	16	58706104	Silent	SNP	G	TCGA-CD-8531-01A-11D-2340-08	2038796	58706104	31648649	206	81315											
ANKRD11	29123	broad.mit.edu	37	chr16	89337295	89337295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggcgttgaaacggtcgCgcactgacttgttctcgtca	14	11	2	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr16:89337295C>T	uc002fmx.1	-	12	8197	c.7736G>A	c.(7735-7737)CGC>CAC	p.R2579H	ANKRD11_uc002fmy.1_Missense_Mutation_p.R2579H|uc002fmz.1_RNA	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2579						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GAAACGGTCGCGCACTGACTT	0.597													T	89337295	C	T	89337295	3	4	148	1	0	0	0	0	1	0	0	0	639	768	27	1	263	1	ANKRD11	16	89337295	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	30631191	89337295	1017458	207	81316											
TNFSF12-TNFSF13	407977	broad.mit.edu	37	chr17	7463198	7463198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacctggttcccattaacGccacctccaagggtgagcac	9	15	0	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr17:7463198G>A	uc002ghi.1	+	8	668	c.613G>A	c.(613-615)GCC>ACC	p.A205T	SENP3_uc002ghm.2_5'Flank|TNFSF13_uc002ghj.2_Missense_Mutation_p.A125T|TNFSF13_uc002ghk.2_Missense_Mutation_p.A125T|TNFSF13_uc002ghl.2_Intron|TNFSF13_uc010cmk.2_Missense_Mutation_p.A98T|TNFSF13_uc010vua.1_Missense_Mutation_p.A97T	NM_172089	NP_742086	Q8IZK7	Q8IZK7_HUMAN	TNFSF12-TNFSF13 protein	205					immune response	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding				0		Prostate(122;0.157)				TCCCATTAACGCCACCTCCAA	0.557											OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	7463198	G	A	7463198	3	1	148	1	0	0	0	0	1	0	0	0	16301	1087	38	1	643	1	TNFSF12-TNFSF13	17	7463198	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08		7463198	73732012	208	81317											
TP53	7157	broad.mit.edu	37	chr17	7577556	7577556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggttcatgccgcccatgCaggaactgttacacatgtag	10	12	1	0	rs121912655		TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr17:7577556C>T	uc002gim.2	-	7	919	c.725G>A	c.(724-726)TGC>TAC	p.C242Y	TP53_uc002gig.1_Missense_Mutation_p.C242Y|TP53_uc002gih.2_Missense_Mutation_p.C242Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C110Y|TP53_uc010cng.1_Missense_Mutation_p.C110Y|TP53_uc002gii.1_Missense_Mutation_p.C110Y|TP53_uc010cnh.1_Missense_Mutation_p.C242Y|TP53_uc010cni.1_Missense_Mutation_p.C242Y|TP53_uc002gij.2_Missense_Mutation_p.C242Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C149Y|TP53_uc002gio.2_Missense_Mutation_p.C110Y	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	242	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).	Zinc.	C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C242F(63)|p.C242Y(37)|p.C242S(25)|p.C242fs*5(16)|p.C242R(11)|p.C242W(7)|p.0?(7)|p.N239_C242delNSSC(3)|p.C242*(3)|p.C242C(2)|p.C242G(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCGCCCATGCAGGAACTGTT	0.577		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577556	C	T	7577556	3	4	148	1	0	0	0	0	1	0	0	0	16378	710	25	2	565	2	TP53	17	7577556	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	114358	7577556	73617654	209	81318											
TMEM97	27346	broad.mit.edu	37	chr17	26646362	26646362	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgttcatggacctgcaggcgGtgctgccgcgcgagctctac	14	13	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr17:26646362G>C	uc002hat.2	+	1	242	c.97G>C	c.(97-99)GTG>CTG	p.V33L		NM_014573	NP_055388	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	33	Extracellular (Potential).				cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding				0	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CCTGCAGGCGGTGCTGCCGCG	0.687													C	26646362	G	C	26646362	3	2	148	1	0	0	0	0	1	0	0	0	16221	1261	44	5	99	5	TMEM97	17	26646362	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	19068806	26646362	54548848	210	81319											
SLC13A2	9058	broad.mit.edu	37	chr17	26817568	26817568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacctgcataaacgcatcGccctccgtgtcctcctcatc	7	17	1	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr17:26817568G>A	uc002hbh.2	+	3	395	c.328G>A	c.(328-330)GCC>ACC	p.A110T	SLC13A2_uc010wal.1_Missense_Mutation_p.A67T|SLC13A2_uc010wam.1_Missense_Mutation_p.A66T|SLC13A2_uc010wan.1_Missense_Mutation_p.A159T|SLC13A2_uc010wao.1_Missense_Mutation_p.A67T|SLC13A2_uc002hbi.2_Missense_Mutation_p.A39T	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	110						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TAAACGCATCGCCCTCCGTGT	0.607													A	26817568	G	A	26817568	3	1	148	1	0	0	0	0	1	0	0	0	14392	1087	38	1	485	1	SLC13A2	17	26817568	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	171206	26817568	54377642	211	81320											
GRN	2896	broad.mit.edu	37	chr17	42426659	42426659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccagctacagctgctgcCgtccccttctggtgagtgcc	12	15	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr17:42426659C>T	uc002igp.1	+	2	346	c.127C>T	c.(127-129)CGT>TGT	p.R43C	GRN_uc002igq.1_Missense_Mutation_p.R43C|GRN_uc002igr.1_5'Flank	NM_002087	NP_002078	P28799	GRN_HUMAN	granulin precursor	43					signal transduction	extracellular space	cytokine activity|growth factor activity			ovary(2)|central_nervous_system(2)|skin(1)	5		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CAGCTGCTGCCGTCCCCTTCT	0.637													T	42426659	C	T	42426659	3	4	148	1	0	0	0	0	1	0	0	0	6804	652	23	1	129	1	GRN	17	42426659	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	15609091	42426659	38768551	212	81321											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	148	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-CD-8531-01A-11D-2340-08	13959725	56386384	24808826	213	81322											
C17orf82	388407	broad.mit.edu	37	chr17	59489668	59489668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgagcacgcccggggcgGttttgcacttggacttcctt	13	13	0	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr17:59489668G>A	uc002izh.1	+	1	557	c.332G>A	c.(331-333)GGT>GAT	p.G111D		NM_203425	NP_982249	Q86X59	CQ082_HUMAN	hypothetical protein LOC388407	111											0						GCCCGGGGCGGTTTTGCACTT	0.667											OREG0024630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	59489668	G	A	59489668	3	1	148	1	0	0	0	0	1	0	0	0	1887	1261	44	4	334	4	C17orf82	17	59489668	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	3103284	59489668	21705542	214	81323											
GNA13	10672	broad.mit.edu	37	chr17	63052588	63052588	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccgcttcacataggtctTttcccgagacaggcatttgt	9	12	2	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr17:63052588T>C	uc002jfc.2	-	1	333	c.124A>G	c.(124-126)AAG>GAG	p.K42E	GNA13_uc010wqh.1_5'Flank	NM_006572	NP_006563	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein),	42					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding				0						ACATAGGTCTTTTCCCGAGAC	0.622													C	63052588	T	C	63052588	3	2	148	1	0	0	0	0	1	0	0	0	6501	1850	64	3	1025	3	GNA13	17	63052588	Missense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08	3562920	63052588	18142622	215	81324											
GNA13	10672	broad.mit.edu	37	chr17	63052626	63052626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgatctccttggacttgCgttgctgctcggcctcgcca	11	14	1	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr17:63052626C>T	uc002jfc.2	-	1	295	c.86G>A	c.(85-87)CGC>CAC	p.R29H	GNA13_uc010wqh.1_5'Flank	NM_006572	NP_006563	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein),	29					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding				0						CTTGGACTTGCGTTGCTGCTC	0.597													T	63052626	C	T	63052626	3	4	148	1	0	0	0	0	1	0	0	0	6501	768	27	1	1063	1	GNA13	17	63052626	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	38	63052626	18142584	216	81325											
GRB2	2885	broad.mit.edu	37	chr17	73389691	73389691	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtagctttgaagtcatAtttggcgatggcttccattc	10	8	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr17:73389691A>C	uc002jnx.3	-	2	376	c.19T>G	c.(19-21)TAT>GAT	p.Y7D	GRB2_uc002jny.3_Missense_Mutation_p.Y7D	NM_002086	NP_002077	P62993	GRB2_HUMAN	growth factor receptor-bound protein 2 isoform	7	SH3 1.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			ovary(3)	3	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	TTGAAGTCATATTTGGCGATG	0.562													C	73389691	A	C	73389691	3	2	148	1	0	0	0	0	1	0	0	0	6758	449	16	5	654	5	GRB2	17	73389691	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	10337065	73389691	7805519	217	81326											
SLC16A3	9123	broad.mit.edu	37	chr17	80194605	80194605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagctgctgccctctccagGtccgctctgcagtgtgtgcg	12	15	3	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr17:80194605G>A	uc002kea.2	+	3	363	c.224G>A	c.(223-225)GGT>GAT	p.G75D	SLC16A3_uc002kee.2_Missense_Mutation_p.G75D|SLC16A3_uc002keb.2_Missense_Mutation_p.G75D|SLC16A3_uc002kec.2_Missense_Mutation_p.G75D|SLC16A3_uc002ked.2_Missense_Mutation_p.G75D	NM_001042422	NP_001035887	O15427	MOT4_HUMAN	solute carrier family 16, member 3	75	Helical; (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			upper_aerodigestive_tract(1)|lung(1)	2	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	CCCTCTCCAGGTCCGCTCTGC	0.682											OREG0024821	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	80194605	G	A	80194605	3	1	148	1	0	0	0	0	1	0	0	0	14409	1275	44	4	230	4	SLC16A3	17	80194605	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	6804914	80194605	1000605	218	81327											
PTPRM	5797	broad.mit.edu	37	chr18	7926570	7926570	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctttttctttatgtagccagGactcctcacttcctgcggat	7	12	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr18:7926570G>T	uc002knn.3	+	5	1055	c.552G>T	c.(550-552)AGG>AGT	p.R184S	PTPRM_uc010dkv.2_Missense_Mutation_p.R184S	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	184	MAM.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				ATGTAGCCAGGACTCCTCACT	0.418													T	7926570	G	T	7926570	3	4	148	1	0	0	0	0	1	0	0	0	12806	1165	41	5	570	5	PTPRM	18	7926570	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08		7926570	70150678	219	81328											
ABHD3	171586	broad.mit.edu	37	chr18	19283682	19283682	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaaggaagcggctgaaactCtcacccccggtcactaactg	10	13	2	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr18:19283682C>T	uc002ktl.2	-	2	329	c.189G>A	c.(187-189)GAG>GAA	p.E63E	ABHD3_uc002ktm.2_Silent_p.E63E|ABHD3_uc010xao.1_Intron|MIB1_uc002ktp.2_5'Flank|ABHD3_uc002kto.2_Silent_p.E63E	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN	alpha/beta hydrolase domain containing protein	63						integral to membrane	carboxylesterase activity			central_nervous_system(1)	1						GGCTGAAACTCTCACCCCCGG	0.547													T	19283682	C	T	19283682	2	4	148	1	0	0	0	0	0	0	0	1	83	912	32	4		4	ABHD3	18	19283682	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08	11357112	19283682	58793566	220	81329											
RIT2	6014	broad.mit.edu	37	chr18	40323568	40323568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggcatggactccttcttgcGaatttccctcactaagccat	7	13	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr18:40323568G>A	uc002lav.2	-	5	717	c.544C>T	c.(544-546)CGC>TGC	p.R182C	RIT2_uc010dnf.2_3'UTR	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	182					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			ovary(1)	1						TCCTTCTTGCGAATTTCCCTC	0.413													A	40323568	G	A	40323568	3	1	148	1	0	0	0	0	1	0	0	0	13387	1058	37	1	113	1	RIT2	18	40323568	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	21039886	40323568	37753680	221	81330											
DOT1L	84444	broad.mit.edu	37	chr19	2191099	2191099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagcaggtctacaaccactCggtgaccgaccccgagaagc	11	15	1	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr19:2191099C>T	uc002lvb.3	+	5	389	c.353C>T	c.(352-354)TCG>TTG	p.S118L		NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	118						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACAACCACTCGGTGACCGAC	0.617													T	2191099	C	T	2191099	3	4	148	1	0	0	0	0	1	0	0	0	4709	893	31	1	371	1	DOT1L	19	2191099	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08		2191099	56937884	222	81331											
ZNF77	58492	broad.mit.edu	37	chr19	2934551	2934551	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtccttgagtcctggcAattacagggtttctctacag	10	10	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr19:2934551A>T	uc002lws.3	-	4	705	c.574T>A	c.(574-576)TGC>AGC	p.C192S		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	zinc finger protein 77	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGTCCTGGCAATTACAGGGT	0.473													T	2934551	A	T	2934551	3	4	148	1	0	0	0	0	1	0	0	0	18139	130	5	5	1067	5	ZNF77	19	2934551	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	743452	2934551	56194432	223	81332											
CD209	30835	broad.mit.edu	37	chr19	7809857	7809857	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcacttttgattacgacgagCtgggcccccacttctttgca	9	13	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr19:7809857C>G	uc002mht.2	-	5	937	c.870G>C	c.(868-870)CAG>CAC	p.Q290H	CD209_uc010xju.1_Missense_Mutation_p.Q129H|CD209_uc010dvp.2_Missense_Mutation_p.Q266H|CD209_uc002mhr.2_Missense_Mutation_p.Q266H|CD209_uc002mhs.2_Missense_Mutation_p.Q220H|CD209_uc002mhu.2_Missense_Mutation_p.Q198H|CD209_uc010dvq.2_Missense_Mutation_p.Q290H|CD209_uc002mhq.2_Missense_Mutation_p.Q290H|CD209_uc002mhv.2_Missense_Mutation_p.Q266H|CD209_uc002mhx.2_Missense_Mutation_p.Q246H|CD209_uc002mhw.2_Missense_Mutation_p.Q154H|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	CD209 molecule isoform 1	290	Extracellular (Probable).|C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			skin(1)	1						TTACGACGAGCTGGGCCCCCA	0.582													G	7809857	C	G	7809857	3	3	148	1	0	0	0	0	1	0	0	0	2984	796	28	5	356	5	CD209	19	7809857	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	4875306	7809857	51319126	224	81333											
MYO1F	4542	broad.mit.edu	37	chr19	8613174	8613174	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accgatgctgtactcttcctGgggtttctgcatagcacggt	11	11	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr19:8613174G>C	uc002mkg.2	-	11	1243	c.1129C>G	c.(1129-1131)CAG>GAG	p.Q377E	MYO1F_uc002mkh.2_Missense_Mutation_p.P378R	NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	377	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						TACTCTTCCTGGGGTTTCTGC	0.607													C	8613174	G	C	8613174	3	2	148	1	0	0	0	0	1	0	0	0	10073	1357	47	5	2239	5	MYO1F	19	8613174	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	803317	8613174	50515809	225	81334											
MUC16	94025	broad.mit.edu	37	chr19	8995977	8995977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggtggacacagagctcCgatgagtgaaacctgcatag	14	8	0	3			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr19:8995977C>T	uc002mkp.2	-	62	41468	c.41264G>A	c.(41263-41265)CGG>CAG	p.R13755Q	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.R572Q|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13757	Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CACAGAGCTCCGATGAGTGAA	0.537													T	8995977	C	T	8995977	3	4	148	1	0	0	0	0	1	0	0	0	9973	652	23	1	2351	1	MUC16	19	8995977	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	382803	8995977	50133006	226	81335											
ZNF700	90592	broad.mit.edu	37	chr19	12060673	12060673	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaaccttcgaaagcatggtAggactcacactggagagaaa	10	9	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr19:12060673A>T	uc002msu.2	+	4	1960	c.1834A>T	c.(1834-1836)AGG>TGG	p.R612W	ZNF700_uc010xme.1_Missense_Mutation_p.R630W|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	612	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAAGCATGGTAGGACTCACAC	0.473													T	12060673	A	T	12060673	3	4	148	1	0	0	0	0	1	0	0	0	18101	411	15	5	1848	5	ZNF700	19	12060673	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	3064696	12060673	47068310	227	81336											
NOTCH3	4854	broad.mit.edu	37	chr19	15299139	15299139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acactcgtcaatgtccacctCgcaataggttcctgtgaagc	8	13	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr19:15299139C>T	uc002nan.2	-	9	1475	c.1399G>A	c.(1399-1401)GAG>AAG	p.E467K	NOTCH3_uc002nao.1_Missense_Mutation_p.E467K	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	467	Extracellular (Potential).|EGF-like 11; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ATGTCCACCTCGCAATAGGTT	0.587													T	15299139	C	T	15299139	3	4	148	1	0	0	0	0	1	0	0	0	10550	893	31	1	5666	1	NOTCH3	19	15299139	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	3238466	15299139	43829844	228	81337											
SCN1B	6324	broad.mit.edu	37	chr19	35524615	35524615	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cacaacaccagcgtcgtcaaGaagatccacattgaggtagt	9	11	1	3			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr19:35524615G>C	uc002nxp.2	+	3	611	c.420G>C	c.(418-420)AAG>AAC	p.K140N	SCN1B_uc002nxo.1_Missense_Mutation_p.K140N|SCN1B_uc010xsg.1_Splice_Site_p.K70_splice	NM_001037	NP_001028	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta	140	Extracellular (Potential).|Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			ovary(1)|central_nervous_system(1)	2	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCGTCGTCAAGAAGATCCACA	0.567													C	35524615	G	C	35524615	3	2	148	1	0	0	0	0	1	0	0	0	13915	933	33	5	430	5	SCN1B	19	35524615	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	20225476	35524615	23604368	229	81338											
MLL4	9757	broad.mit.edu	37	chr19	36214856	36214856	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttcgaggattcggatgaCtcggagcccgggggcccccc	14	14	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr19:36214856C>T	uc010eei.2	+	9	3282	c.3282C>T	c.(3280-3282)GAC>GAT	p.D1094D		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1094					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATTCGGATGACTCGGAGCCCG	0.592													T	36214856	C	T	36214856	2	4	148	1	0	0	0	0	0	0	0	1	9623	564	20	4		4	MLL4	19	36214856	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08	690241	36214856	22914127	230	81339											
FCGBP	8857	broad.mit.edu	37	chr19	40421393	40421393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgctgcagcgctcacccGccgggcagctctgcttgtcg	14	16	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr19:40421393G>A	uc002omp.3	-	5	2536	c.2528C>T	c.(2527-2529)GCG>GTG	p.A843V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	843	Cys-rich.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCGCTCACCCGCCGGGCAGCT	0.687													A	40421393	G	A	40421393	3	1	148	1	0	0	0	0	1	0	0	0	5778	1087	38	1	13817	1	FCGBP	19	40421393	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	4206537	40421393	18707590	231	81340											
CEACAM5	1048	broad.mit.edu	37	chr19	42222079	42222079	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accccaccatttccccctcaTacacctattaccgtccaggg	4	19	1	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr19:42222079T>C	uc002ork.2	+	6	1391	c.1270T>C	c.(1270-1272)TAC>CAC	p.Y424H	CEACAM5_uc002orj.1_Missense_Mutation_p.Y423H|CEACAM5_uc002orl.2_Missense_Mutation_p.Y424H	NM_004363	NP_004354	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion	424	Ig-like 5.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				skin(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TTCCCCCTCATACACCTATTA	0.542													C	42222079	T	C	42222079	3	2	148	1	0	0	0	0	1	0	0	0	3195	1406	49	3	1292	3	CEACAM5	19	42222079	Missense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08	1800686	42222079	16906904	232	81341											
PLAUR	5329	broad.mit.edu	37	chr19	44169538	44169538	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctggtgatcttcaagccagtCcgatagctcagggtcctgtt	11	11	3	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr19:44169538C>G	uc002oxf.1	-	3	470	c.240G>C	c.(238-240)CGG>CGC	p.R80R	PLAUR_uc002oxd.1_Silent_p.R80R|PLAUR_uc002oxe.1_Silent_p.R75R|PLAUR_uc002oxg.1_Silent_p.R80R	NM_002659	NP_002650	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	80	UPAR/Ly6 1.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			ovary(1)	1		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCAAGCCAGTCCGATAGCTCA	0.527													G	44169538	C	G	44169538	2	3	148	1	0	0	0	0	0	0	0	1	12023	842	30	5		5	PLAUR	19	44169538	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08	1947459	44169538	14959445	233	81342											
KIR2DL3	3804	broad.mit.edu	37	chr19	55250954	55250954	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgatctttctttccaggGttcttcttgctgcagggggc	11	10	5	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr19:55250954G>A	uc002qgv.2	+	2	54	c.36G>A	c.(34-36)GGG>GGA	p.G12G	KIR2DL3_uc002qgx.2_Silent_p.G12G|KIR2DL3_uc002qgy.2_Silent_p.G12G|KIR2DL3_uc010erw.1_Silent_p.G12G|KIR2DL1_uc002qgz.1_5'UTR|KIR2DL3_uc002qha.1_5'Flank	NM_015868	NP_056952	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two	12					immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(193;0.0192)		TCTTTCCAGGGTTCTTCTTGC	0.567													A	55250954	G	A	55250954	2	1	148	1	0	0	0	0	0	0	0	1	8317	1275	44	4		4	KIR2DL3	19	55250954	Silent	SNP	G	TCGA-CD-8531-01A-11D-2340-08	11081416	55250954	3878029	234	81343											
NLRP2	55655	broad.mit.edu	37	chr19	55494276	55494276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccgcggtgtgctggatcGtgtgcacgactctgaagctg	14	13	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr19:55494276G>A	uc002qij.2	+	6	1296	c.1210G>A	c.(1210-1212)GTG>ATG	p.V404M	NLRP2_uc010yfp.1_Missense_Mutation_p.V381M|NLRP2_uc010esn.2_Missense_Mutation_p.V380M|NLRP2_uc010eso.2_Missense_Mutation_p.V401M|NLRP2_uc010esp.2_Missense_Mutation_p.V382M	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	404	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTGCTGGATCGTGTGCACGAC	0.642													A	55494276	G	A	55494276	3	1	148	1	0	0	0	0	1	0	0	0	10477	1145	40	1	1228	1	NLRP2	19	55494276	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	243322	55494276	3634707	235	81344											
FKBP1A	2280	broad.mit.edu	37	chr20	1356212	1356212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagggcttgtttctgtcccGggaggaatcaaatttctttc	10	8	3	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr20:1356212G>A	uc002wey.2	-	3	295	c.121C>T	c.(121-123)CGG>TGG	p.R41W	FKBP1A_uc010gac.2_Intron|uc002wew.2_Intron|uc002wex.2_Intron|FKBP1A_uc002wez.2_Intron|FKBP1A_uc010gad.2_Intron|FKBP1A_uc002wfa.2_Missense_Mutation_p.R41W|FKBP1A_uc002wfb.2_Intron|FKBP1A_uc010gae.2_Missense_Mutation_p.R25W|FKBP1A_uc010gaf.2_RNA	NM_000801	NP_000792	P62942	FKB1A_HUMAN	FK506 binding protein 1A, 12kDa	41	PPIase FKBP-type.				'de novo' protein folding|beta-amyloid formation|fibril organization|heart trabecula formation|negative regulation of protein phosphatase type 2B activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein binding|positive regulation of protein ubiquitination|protein maturation by protein folding|protein refolding|regulation of activin receptor signaling pathway|regulation of immune response|regulation of ryanodine-sensitive calcium-release channel activity|SMAD protein complex assembly|T cell activation|ventricular cardiac muscle tissue morphogenesis	axon|cytosol|sarcoplasmic reticulum membrane|terminal cisterna	activin binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity|signal transducer activity|SMAD binding|type I transforming growth factor beta receptor binding				0					Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864)	TTTCTGTCCCGGGAGGAATCA	0.463													A	1356212	G	A	1356212	3	1	148	1	0	0	0	0	1	0	0	0	5906	1115	39	1	213	1	FKBP1A	20	1356212	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08		1356212	61669308	236	81345											
PAK7	57144	broad.mit.edu	37	chr20	9520159	9520159	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacgatgcaagacggtggacCtgctagttttaagaatggat	13	6	0	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr20:9520159C>G	uc002wnl.2	-	11	2655	c.2110G>C	c.(2110-2112)GGT>CGT	p.G704R	PAK7_uc002wnk.2_Missense_Mutation_p.G704R|PAK7_uc002wnj.2_Missense_Mutation_p.G704R|PAK7_uc010gby.1_Missense_Mutation_p.G617R	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	704			G -> S (in a metastatic melanoma sample; somatic mutation).				ATP binding|protein binding|protein serine/threonine kinase activity	p.G704S(1)		lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)			GACGGTGGACCTGCTAGTTTT	0.507													G	9520159	C	G	9520159	3	3	148	1	0	0	0	0	1	0	0	0	11405	681	24	5	53	5	PAK7	20	9520159	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	8163947	9520159	53505361	237	81346											
TH1L	51497	broad.mit.edu	37	chr20	57569712	57569712	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaagctcactgcaaatctaActtcatcatggtgaactaat	5	9	4	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr20:57569712A>C	uc002yag.2	+	15	1781	c.1754A>C	c.(1753-1755)AAC>ACC	p.N585T	TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_3'UTR	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	585					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)		Colorectal(105;0.109)			TGCAAATCTAACTTCATCATG	0.343													C	57569712	A	C	57569712	3	2	148	1	0	0	0	0	1	0	0	0	15836	43	2	5	1812	5	TH1L	20	57569712	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	48049553	57569712	5455808	238	81347											
ZNF831	128611	broad.mit.edu	37	chr20	57766977	57766977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacaaccctggcgtaagttGccagagcagaagtcgccgac	11	13	0	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr20:57766977G>A	uc002yan.2	+	1	903	c.903G>A	c.(901-903)TTG>TTA	p.L301L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	301						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					GGCGTAAGTTGCCAGAGCAGA	0.701													A	57766977	G	A	57766977	2	1	148	1	0	0	0	0	0	0	0	1	18182	1310	46	2		2	ZNF831	20	57766977	Silent	SNP	G	TCGA-CD-8531-01A-11D-2340-08	197265	57766977	5258543	239	81348											
CDH4	1002	broad.mit.edu	37	chr20	60509180	60509180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaagcaaagcccctggcGtgcgtcgcgtggatgagcgg	16	12	0	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr20:60509180G>A	uc002ybn.1	+	15	2460	c.2446G>A	c.(2446-2448)GTG>ATG	p.V816M	CDH4_uc002ybp.1_Missense_Mutation_p.V742M	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	816	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGCCCCTGGCGTGCGTCGCGT	0.677													A	60509180	G	A	60509180	3	1	148	1	0	0	0	0	1	0	0	0	3112	1145	40	1	2504	1	CDH4	20	60509180	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	2742203	60509180	2516340	240	81349											
LAMA5	3911	broad.mit.edu	37	chr20	60921763	60921763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcgatacagacacccccaCcctgataggtgccatccagg	9	15	0	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr20:60921763C>T	uc002ycq.2	-	8	1233	c.1166G>A	c.(1165-1167)GGT>GAT	p.G389D		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	389	Laminin EGF-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACACCCCCACCCTGATAGGT	0.647													T	60921763	C	T	60921763	3	4	148	1	0	0	0	0	1	0	0	0	8609	507	18	4	10213	4	LAMA5	20	60921763	Missense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	412583	60921763	2103757	241	81350											
LGALS1	3956	broad.mit.edu	37	chr22	38075624	38075624	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccaggtgtgcatcaccttCgaccaggccaacctgaccgt	9	17	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr22:38075624C>T	uc003atn.2	+	4	373	c.276C>T	c.(274-276)TTC>TTT	p.F92F		NM_002305	NP_002296	P09382	LEG1_HUMAN	galectin-1	92	Galectin.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity				0	Melanoma(58;0.0574)					GCATCACCTTCGACCAGGCCA	0.607													T	38075624	C	T	38075624	2	4	148	1	0	0	0	0	0	0	0	1	8738	883	31	1		1	LGALS1	22	38075624	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08		38075624	13228942	242	81351											
TNFRSF13C	115650	broad.mit.edu	37	chr22	42321376	42321376	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccggctccctgctattGttgctcagggccggccgtct	12	16	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr22:42321376G>A	uc003bbl.2	-	3	594	c.550C>T	c.(550-552)CAA>TAA	p.Q184*	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Nonsense_Mutation_p.Q185*	NM_052945	NP_443177	Q96RJ3	TR13C_HUMAN	BAFF receptor	184	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						CCCTGCTATTGTTGCTCAGGG	0.632													A	42321376	G	A	42321376	4	1	148	1	0	0	0	0	0	1	0	0	16285	1386	48	4	8	4	TNFRSF13C	22	42321376	Nonsense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	4245752	42321376	8983190	243	81352											
FAM116B	414918	broad.mit.edu	37	chr22	50753285	50753285	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgagggtgccaggactagcAggggctccccgaggagcatg	18	11	0	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chr22:50753285A>T	uc011aru.1	-	11	896	c.824T>A	c.(823-825)CTG>CAG	p.L275Q	FAM116B_uc011arv.1_Missense_Mutation_p.L275Q	NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN	family with sequence similarity 116, member B	275											0		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGACTAGCAGGGGCTCCCC	0.672													T	50753285	A	T	50753285	3	4	148	1	0	0	0	0	1	0	0	0	5408	188	7	5	977	5	FAM116B	22	50753285	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	8431909	50753285	551281	244	81353											
MAGEB4	4115	broad.mit.edu	37	chrX	30260943	30260943	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaatatgctggggatctatGatggaaagaggcaccttatc	12	6	1	3			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chrX:30260943G>A	uc004dcb.2	+	1	775	c.691G>A	c.(691-693)GAT>AAT	p.D231N	MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	231	MAGE.									ovary(1)	1						GGGGATCTATGATGGAAAGAG	0.473													A	30260943	G	A	30260943	3	1	148	1	0	0	0	0	1	0	0	0	9178	1290	45	4	693	4	MAGEB4	23	30260943	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08		30260943	125009617	245	81354											
FAM47A	158724	broad.mit.edu	37	chrX	34148536	34148536	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgatggattcttcatcAgctcccaggtctccagccca	7	15	4	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chrX:34148536A>G	uc004ddg.2	-	1	1893	c.1860T>C	c.(1858-1860)GCT>GCC	p.A620A		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	620										ovary(4)|central_nervous_system(1)	5						ATTCTTCATCAGCTCCCAGGT	0.438													G	34148536	A	G	34148536	2	3	148	1	0	0	0	0	0	0	0	1	5569	175	7	3		3	FAM47A	23	34148536	Silent	SNP	A	TCGA-CD-8531-01A-11D-2340-08	3887593	34148536	121122024	246	81355											
FAM47C	442444	broad.mit.edu	37	chrX	37028756	37028756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagagcctcttgagactcGcgtatctcatctccgcccgg	9	17	3	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chrX:37028756G>A	uc004ddl.1	+	1	2287	c.2273G>A	c.(2272-2274)CGC>CAC	p.R758H		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	758										ovary(3)	3						CTTGAGACTCGCGTATCTCAT	0.637													A	37028756	G	A	37028756	3	1	148	1	0	0	0	0	1	0	0	0	5571	1087	38	1	2275	1	FAM47C	23	37028756	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	2880220	37028756	118241804	247	81356											
WDR45	11152	broad.mit.edu	37	chrX	48934088	48934088	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtatctgagccctctcaCccttggggttgtcccgggta	12	12	2	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chrX:48934088C>T	uc004dmk.1	-	6	608	c.436_splice	c.e6+1	p.G146_splice	PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Intron|WDR45_uc004dmj.1_Splice_Site_p.A96_splice|WDR45_uc004dml.1_Splice_Site_p.G147_splice|WDR45_uc004dmm.1_Splice_Site_p.G111_splice|WDR45_uc010nim.1_Splice_Site_p.G146_splice|WDR45_uc004dmn.1_Splice_Site_p.G37_splice|WDR45_uc004dmo.1_Splice_Site_p.G169_splice|WDR45_uc004dmp.1_Splice_Site_p.G147_splice	NM_001029896	NP_001025067	Q9Y484	WIPI4_HUMAN	WD repeat domain 45 isoform 2						autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			ovary(1)	1						AGCCCTCTCACCCTTGGGGTT	0.532													T	48934088	C	T	48934088	5	4	148	1	0	0	0	0	0	0	1	0	17294	521	18	4	669	4	WDR45	23	48934088	Splice_Site	SNP	C	TCGA-CD-8531-01A-11D-2340-08	11905332	48934088	106336472	248	81357											
AR	367	broad.mit.edu	37	chrX	66941680	66941680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatctccttcccaggtaccGcatgcacaagtcccggatgt	9	14	1	0	rs137852572		TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chrX:66941680G>A	uc004dwu.1	+	6	3439	c.2324G>A	c.(2323-2325)CGC>CAC	p.R775H	AR_uc004dwv.1_Missense_Mutation_p.R243H	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	774	Ligand-binding.|Interaction with MYST2.		R -> H (in AIS and PAIS; almost complete loss of androgen binding).|R -> C (in AIS; loss of androgen binding; frequent mutation).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CCCAGGTACCGCATGCACAAG	0.517									Androgen_Insensitivity_Syndrome				A	66941680	G	A	66941680	3	1	148	1	0	0	0	0	1	0	0	0	836	1087	38	1	2370	1	AR	23	66941680	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	18007592	66941680	88328880	249	81358											
FAM155B	27112	broad.mit.edu	37	chrX	68749751	68749751	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagggtggtgggggattgggGctggagacactgcctgccct	19	9	0	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chrX:68749751G>C	uc004dxk.2	+	3	1419	c.1371G>C	c.(1369-1371)GGG>GGC	p.G457G		NM_015686	NP_056501	O75949	F155B_HUMAN	transmembrane protein 28	458	Poly-Gly.					integral to membrane				ovary(1)|breast(1)	2						GGGGATTGGGGCTGGAGACAC	0.627													C	68749751	G	C	68749751	2	2	148	1	0	0	0	0	0	0	0	1	5466	1190	42	5		5	FAM155B	23	68749751	Silent	SNP	G	TCGA-CD-8531-01A-11D-2340-08	1808071	68749751	86520809	250	81359											
AWAT2	158835	broad.mit.edu	37	chrX	69261763	69261763	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgtgtgatatttagccacGatctcctggcttggattctc	10	9	2	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chrX:69261763G>A	uc004dxt.1	-	7	903	c.897C>T	c.(895-897)ATC>ATT	p.I299I		NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN	wax synthase 2	299						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity				0						ATTTAGCCACGATCTCCTGGC	0.468													A	69261763	G	A	69261763	2	1	148	1	0	0	0	0	0	0	0	1	1235	1048	37	1		1	AWAT2	23	69261763	Silent	SNP	G	TCGA-CD-8531-01A-11D-2340-08	512012	69261763	86008797	251	81360											
GDPD2	54857	broad.mit.edu	37	chrX	69646220	69646220	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cattcatccctggccccccaGgtgctgctgctcctcattat	7	17	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chrX:69646220G>C	uc004dyh.2	+	6	615	c.364_splice	c.e6-1	p.V122_splice	GDPD2_uc010nkx.1_Splice_Site_p.V122_splice|GDPD2_uc010nky.1_Splice_Site|GDPD2_uc011mpk.1_Splice_Site_p.V122_splice|GDPD2_uc011mpl.1_Splice_Site_p.V43_splice|GDPD2_uc011mpm.1_Splice_Site_p.V43_splice	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN	osteoblast differentiation promoting factor						glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			ovary(2)	2	Renal(35;0.156)					TGGCCCCCCAGGTGCTGCTGC	0.582													C	69646220	G	C	69646220	5	2	148	1	0	0	0	0	0	0	1	0	6324	1014	35	5	381	5	GDPD2	23	69646220	Splice_Site	SNP	G	TCGA-CD-8531-01A-11D-2340-08	384457	69646220	85624340	252	81361											
PHKA1	5255	broad.mit.edu	37	chrX	71932636	71932636	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtacctgctccaattcataGgcctttgccttatcctcatc	5	14	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chrX:71932636G>T	uc004eax.3	-	2	523	c.222C>A	c.(220-222)GCC>GCA	p.A74A	PHKA1_uc004eay.3_Silent_p.A74A|PHKA1_uc011mqi.1_Silent_p.A74A	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	74					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					CCAATTCATAGGCCTTTGCCT	0.498													T	71932636	G	T	71932636	2	4	148	1	0	0	0	0	0	0	0	1	11843	987	35	5		5	PHKA1	23	71932636	Silent	SNP	G	TCGA-CD-8531-01A-11D-2340-08	2286416	71932636	83337924	253	81362											
ZCCHC13	389874	broad.mit.edu	37	chrX	73524221	73524221	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggttctcaatgtggttcCaccaccctatcttacacctg	7	13	2	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chrX:73524221C>T	uc004ebs.3	+	1	197	c.120C>T	c.(118-120)TCC>TCT	p.S40S		NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	40							nucleic acid binding|zinc ion binding				0						AATGTGGTTCCACCACCCTAT	0.562													T	73524221	C	T	73524221	2	4	148	1	0	0	0	0	0	0	0	1	17579	581	21	4		4	ZCCHC13	23	73524221	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08	1591585	73524221	81746339	254	81363											
ATRX	546	broad.mit.edu	37	chrX	76938019	76938019	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcacttgcttgctgcttcTtaggaagtcgatctcttaat	8	9	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chrX:76938019T>G	uc004ecp.3	-	9	2961	c.2729A>C	c.(2728-2730)AAG>ACG	p.K910T	ATRX_uc004ecq.3_Missense_Mutation_p.K872T|ATRX_uc004eco.3_Missense_Mutation_p.K695T|ATRX_uc004ecr.2_Missense_Mutation_p.K842T|ATRX_uc010nlx.1_Missense_Mutation_p.K881T|ATRX_uc010nly.1_Missense_Mutation_p.K855T	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	910					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TTGCTGCTTCTTAGGAAGTCG	0.408			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76938019	T	G	76938019	3	3	148	1	0	0	0	0	1	0	0	0	1208	1609	56	5	4857	5	ATRX	23	76938019	Missense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08	3413798	76938019	78332541	255	81364											
BRWD3	254065	broad.mit.edu	37	chrX	79955467	79955467	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaacttaccctgagatccaTtttgttccatggctgttttt	6	10	0	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chrX:79955467T>A	uc004edt.2	-	25	3195	c.2932A>T	c.(2932-2934)ATG>TTG	p.M978L	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.M574L|BRWD3_uc004edp.2_Missense_Mutation_p.M807L|BRWD3_uc004edq.2_Missense_Mutation_p.M574L|BRWD3_uc010nmj.1_Missense_Mutation_p.M574L|BRWD3_uc004edr.2_Missense_Mutation_p.M648L|BRWD3_uc004eds.2_Missense_Mutation_p.M574L|BRWD3_uc004edu.2_Missense_Mutation_p.M648L|BRWD3_uc004edv.2_Missense_Mutation_p.M574L|BRWD3_uc004edw.2_Missense_Mutation_p.M574L|BRWD3_uc004edx.2_Missense_Mutation_p.M574L|BRWD3_uc004edy.2_Missense_Mutation_p.M574L|BRWD3_uc004edz.2_Missense_Mutation_p.M648L|BRWD3_uc004eea.2_Missense_Mutation_p.M648L|BRWD3_uc004eeb.2_Missense_Mutation_p.M574L	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	978										ovary(4)	4						CTGAGATCCATTTTGTTCCAT	0.358													A	79955467	T	A	79955467	3	1	148	1	0	0	0	0	1	0	0	0	1526	1493	52	5	2544	5	BRWD3	23	79955467	Missense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08	3017448	79955467	75315093	256	81365											
CYLC1	1538	broad.mit.edu	37	chrX	83129480	83129480	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcatccaaaaagactacattCaatgaaaaaggggaaaaagc	7	7	2	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chrX:83129480C>T	uc004eei.1	+	4	1785	c.1764C>T	c.(1762-1764)TTC>TTT	p.F588F	CYLC1_uc004eeh.1_Silent_p.F587F	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	588					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						AGACTACATTCAATGAAAAAG	0.408													T	83129480	C	T	83129480	2	4	148	1	0	0	0	0	0	0	0	1	4141	825	29	4		4	CYLC1	23	83129480	Silent	SNP	C	TCGA-CD-8531-01A-11D-2340-08	3174013	83129480	72141080	257	81366											
PABPC5	140886	broad.mit.edu	37	chrX	90691722	90691722	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggccaggcgcaggtgCtgagaataagaatgctcagt	15	9	1	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chrX:90691722C>A	uc004efg.2	+	2	1586	c.1146C>A	c.(1144-1146)TGC>TGA	p.C382*	PABPC5_uc004eff.1_Nonsense_Mutation_p.C218*	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	382						cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3						GGCGCAGGTGCTGAGAATAAG	0.493													A	90691722	C	A	90691722	4	1	148	1	0	0	0	0	0	1	0	0	11367	805	28	5	1148	5	PABPC5	23	90691722	Nonsense_Mutation	SNP	C	TCGA-CD-8531-01A-11D-2340-08	7562242	90691722	64578838	258	81367											
TCEAL7	56849	broad.mit.edu	37	chrX	102586597	102586597	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttagggctctgcattctaAccataggcattctcgggacc	9	11	3	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chrX:102586597A>C	uc004ekc.1	+	3	479	c.266A>C	c.(265-267)AAC>ACC	p.N89T		NM_152278	NP_689491	Q9BRU2	TCAL7_HUMAN	transcription elongation factor A (SII)-like 7	89					negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				upper_aerodigestive_tract(1)	1						CTGCATTCTAACCATAGGCAT	0.065													C	102586597	A	C	102586597	3	2	148	1	0	0	0	0	1	0	0	0	15673	43	2	5	268	5	TCEAL7	23	102586597	Missense_Mutation	SNP	A	TCGA-CD-8531-01A-11D-2340-08	11894875	102586597	52683963	259	81368											
MID2	11043	broad.mit.edu	37	chrX	107147196	107147196	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttcttggcaggtgaatacTgctatgcatgaggcaaaact	10	7	1	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chrX:107147196T>G	uc004enl.2	+	4	1398	c.825T>G	c.(823-825)ACT>ACG	p.T275T	MID2_uc004enk.2_Silent_p.T275T	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	midline 2 isoform 1	275	Potential.					centrosome|microtubule	ligase activity|zinc ion binding			ovary(1)	1						AGGTGAATACTGCTATGCATG	0.438													G	107147196	T	G	107147196	2	3	148	1	0	0	0	0	0	0	0	1	9578	1567	55	5		5	MID2	23	107147196	Silent	SNP	T	TCGA-CD-8531-01A-11D-2340-08	4560599	107147196	48123364	260	81369											
ODZ1	10178	broad.mit.edu	37	chrX	123779095	123779095	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atcaatgcattgttcttccgGaacgtcacactctggcccct	7	14	4	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chrX:123779095G>T	uc004euj.2	-	10	1838	c.1774C>A	c.(1774-1776)CCG>ACG	p.P592T	ODZ1_uc011muj.1_Missense_Mutation_p.P591T|ODZ1_uc010nqy.2_Missense_Mutation_p.P592T	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	592	Extracellular (Potential).|EGF-like 3.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TGTTCTTCCGGAACGTCACAC	0.532													T	123779095	G	T	123779095	3	4	148	1	0	0	0	0	1	0	0	0	10834	1174	41	5	6516	5	ODZ1	23	123779095	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	16631899	123779095	31491465	261	81370											
ARHGAP36	158763	broad.mit.edu	37	chrX	130218272	130218272	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctttcaaaaatttccttTccaattggccaacgacttct	4	12	2	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chrX:130218272T>C	uc004evz.2	+	5	984	c.639T>C	c.(637-639)TTT>TTC	p.F213F	ARHGAP36_uc004ewa.2_Silent_p.F201F|ARHGAP36_uc004ewb.2_Silent_p.F182F|ARHGAP36_uc004ewc.2_Silent_p.F77F	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	213					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3						AAATTTCCTTTCCAATTGGCC	0.502													C	130218272	T	C	130218272	2	2	148	1	0	0	0	0	0	0	0	1	883	1780	62	3		3	ARHGAP36	23	130218272	Silent	SNP	T	TCGA-CD-8531-01A-11D-2340-08	6439177	130218272	25052288	262	81371											
FGF13	2258	broad.mit.edu	37	chrX	138286220	138286220	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactcggcgggcgggcttaCccttagaagcatctttctcc	12	13	2	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chrX:138286220C>T	uc011mwj.1	-	2	316	c.49_splice	c.e2+1	p.V17_splice	FGF13_uc004faq.2_Intron|FGF13_uc004far.2_Splice_Site|FGF13_uc011mwk.1_Splice_Site_p.E17_splice	NM_001139500	NP_001132972	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 2						cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GGCGGGCTTACCCTTAGAAGC	0.622													T	138286220	C	T	138286220	5	4	148	1	0	0	0	0	0	0	1	0	5842	521	18	4	964	4	FGF13	23	138286220	Splice_Site	SNP	C	TCGA-CD-8531-01A-11D-2340-08	8067948	138286220	16984340	263	81372											
F9	2158	broad.mit.edu	37	chrX	138642958	138642958	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctatcgttaatgaaaaatGgattgtaactgctgcccact	7	9	1	1			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chrX:138642958G>T	uc004fas.1	+	7	811	c.782G>T	c.(781-783)TGG>TTG	p.W261L	F9_uc004fat.1_Missense_Mutation_p.W223L	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein	261	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AATGAAAAATGGATTGTAACT	0.363													T	138642958	G	T	138642958	3	4	148	1	0	0	0	0	1	0	0	0	5351	1357	47	5	808	5	F9	23	138642958	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	356738	138642958	16627602	264	81373											
CXorf66	347487	broad.mit.edu	37	chrX	139038690	139038690	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctagttaactttcctgcacTgtttggtatggatggctttt	9	8	0	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chrX:139038690T>A	uc004fbb.2	-	3	473	c.451A>T	c.(451-453)AGT>TGT	p.S151C		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	hypothetical protein LOC347487 precursor	151	Ser-rich.|Cytoplasmic (Potential).					integral to membrane					0						TTTCCTGCACTGTTTGGTATG	0.413													A	139038690	T	A	139038690	3	1	148	1	0	0	0	0	1	0	0	0	4118	1580	55	5	638	5	CXorf66	23	139038690	Missense_Mutation	SNP	T	TCGA-CD-8531-01A-11D-2340-08	395732	139038690	16231870	265	81374											
MAGEC3	139081	broad.mit.edu	37	chrX	140984913	140984913	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccttgcccaggtatgccctgGatgaaaaggtggctgagttg	14	9	0	2			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chrX:140984913G>T	uc011mwp.1	+	7	1369	c.1369G>T	c.(1369-1371)GAT>TAT	p.D457Y	MAGEC3_uc004fbs.2_Missense_Mutation_p.D159Y|MAGEC3_uc010nsj.2_Missense_Mutation_p.D159Y	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	457	MAGE 2.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GTATGCCCTGGATGAAAAGGT	0.483													T	140984913	G	T	140984913	3	4	148	1	0	0	0	0	1	0	0	0	9182	1174	41	5	1624	5	MAGEC3	23	140984913	Missense_Mutation	SNP	G	TCGA-CD-8531-01A-11D-2340-08	1946223	140984913	14285647	266	81375											
F8	2157	broad.mit.edu	37	chrX	154194356	154194356	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtatgccataaatcggacTtttttgtacttcctaccaat	6	9	0	0			TCGA-CD-8531-01A-11D-2340-08	TCGA-CD-8531-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3f6a86-acc9-489a-a234-2e8d9eaab714	043a9106-b708-4e9b-ac15-2f2e05619468	g.chrX:154194356T>C	uc004fmt.2	-	9	1503	c.1332A>G	c.(1330-1332)AAA>AAG	p.K444K		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	444	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TAAATCGGACTTTTTTGTACT	0.378													C	154194356	T	C	154194356	2	2	148	1	0	0	0	0	0	0	0	1	5350	1606	56	3		3	F8	23	154194356	Silent	SNP	T	TCGA-CD-8531-01A-11D-2340-08	13209443	154194356	1076204	267	81376											
ATP1A1	476	broad.mit.edu	37	chr1	116930018	116930019	+	Frame_Shift_Ins	INS	-	-	G													gttttgtcggcagctctttgINSgggggttctcaatgttactg							TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr1:116930017_116930018T>TG	uc001ege.3	+	3	630_631	c.291_292T>TG	c.(289-294)tttgggfs	p.F97fs	ATP1A1_uc010owv.1_Frame_Shift_Ins_p.F66fs|ATP1A1_uc010oww.2_Frame_Shift_Ins_p.F97fs|ATP1A1_uc010owx.2_Frame_Shift_Ins_p.F66fs	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	97					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GGCAGCTCTTTGGGGGGTTCTC	0.51													G	116930019	-	G	116930018	7	5	149	1	0	1	1	0	0	0	0	0	1128	1348	47	0	322	0	ATP1A1	1	116930018	Frame_Shift_Ins	INS	-	TCGA-CD-8532-01A-11D-2340-08		116930018	132320603	1	81377											
FAM5B	57795	broad.mit.edu	37	chr1	177245464	177245464	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtgcaagtgcagccccacCttccctgaatgcaactgccc	9	16	0	1			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr1:177245464C>A	uc001glf.2	+	6	1218	c.906C>A	c.(904-906)ACC>ACA	p.T302T	FAM5B_uc010pna.1_Silent_p.T52T|FAM5B_uc001glg.2_Silent_p.T197T	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	302						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						GCAGCCCCACCTTCCCTGAAT	0.577													A	177245464	C	A	177245464	2	1	149	1	0	0	0	0	0	0	0	1	5593	668	24	5		5	FAM5B	1	177245464	Silent	SNP	C	TCGA-CD-8532-01A-11D-2340-08	60315446	177245464	72005157	2	81378											
OBSCN	84033	broad.mit.edu	37	chr1	228430943	228430944	+	Frame_Shift_Ins	INS	-	-	G													tgaggtgcaggctgaggcagINSgggccagtgccacgctgagc							TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr1:228430942_228430943A>AG	uc009xez.1	+	9	3032_3033	c.2988_2989A>AG	c.(2986-2991)gcagggfs	p.A996fs	OBSCN_uc001hsn.3_Frame_Shift_Ins_p.A996fs	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	996	Ig-like 10.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGCTGAGGCAGGGGCCAGTGC	0.589													G	228430944	-	G	228430943	7	5	149	1	0	1	1	0	0	0	0	0	10812	1000	35	0	3023	0	OBSCN	1	228430943	Frame_Shift_Ins	INS	-	TCGA-CD-8532-01A-11D-2340-08	51185479	228430943	20819678	3	81379											
HS1BP3	64342	broad.mit.edu	37	chr2	20840801	20840801	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacacagcgcaggatctcaTtgaacacggctctcctctcc	8	15	3	2			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr2:20840801T>C	uc002rdw.1	-	3	379	c.338A>G	c.(337-339)AAT>AGT	p.N113S	HS1BP3_uc002rdx.2_Missense_Mutation_p.N113S|HS1BP3_uc002rdy.2_Missense_Mutation_p.N113S	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	113	PX.				cell communication		phosphatidylinositol binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGATCTCATTGAACACGGC	0.582													C	20840801	T	C	20840801	3	2	149	1	0	0	0	0	1	0	0	0	7361	1493	52	3	860	3	HS1BP3	2	20840801	Missense_Mutation	SNP	T	TCGA-CD-8532-01A-11D-2340-08		20840801	222358572	4	81380											
STRN	6801	broad.mit.edu	37	chr2	37076928	37076928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttctaggtgggctaccatcGagtggatcagtttgcctttg	12	9	2	0			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr2:37076928G>A	uc002rpn.2	-	17	2111	c.2102C>T	c.(2101-2103)TCG>TTG	p.S701L	STRN_uc010ezx.2_Missense_Mutation_p.S664L	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	701	WD 4.				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GGCTACCATCGAGTGGATCAG	0.413													A	37076928	G	A	37076928	3	1	149	1	0	0	0	0	1	0	0	0	15328	1059	37	1	248	1	STRN	2	37076928	Missense_Mutation	SNP	G	TCGA-CD-8532-01A-11D-2340-08	16236127	37076928	206122445	5	81381											
C2orf78	388960	broad.mit.edu	37	chr2	74042710	74042710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggaggatacttacctcCccccgatcttcagttcctta	9	13	2	0			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr2:74042710C>T	uc002sjr.1	+	3	1481	c.1360C>T	c.(1360-1362)CCC>TCC	p.P454S		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	454										ovary(2)	2						TACTTACCTCCCCCCGATCTT	0.463													T	74042710	C	T	74042710	3	4	149	1	0	0	0	0	1	0	0	0	2195	623	22	4	1370	4	C2orf78	2	74042710	Missense_Mutation	SNP	C	TCGA-CD-8532-01A-11D-2340-08	36965782	74042710	169156663	6	81382											
CXCR2	3579	broad.mit.edu	37	chr2	218999840	218999840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccttgcccatctgggccGcctccaaggtgaatggctgg	13	13	1	2			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr2:218999840G>A	uc002vgz.1	+	4	541	c.316G>A	c.(316-318)GCC>ACC	p.A106T	CXCR2_uc002vha.1_Missense_Mutation_p.A106T|CXCR2_uc002vhb.1_Missense_Mutation_p.A106T	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	106	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)|breast(1)	2						CATCTGGGCCGCCTCCAAGGT	0.552													A	218999840	G	A	218999840	3	1	149	1	0	0	0	0	1	0	0	0	4091	1087	38	1	318	1	CXCR2	2	218999840	Missense_Mutation	SNP	G	TCGA-CD-8532-01A-11D-2340-08	144957130	218999840	24199533	7	81383											
AZI2	64343	broad.mit.edu	37	chr3	28373891	28373891	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagtttttggagatctctgcTcttcagattgtcttcctgat	8	8	4	3			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr3:28373891T>A	uc003ceb.2	-	6	1148	c.616A>T	c.(616-618)AGC>TGC	p.S206C	AZI2_uc003cec.2_Missense_Mutation_p.S94C|AZI2_uc003ced.2_Missense_Mutation_p.S206C|AZI2_uc003cee.3_Missense_Mutation_p.S206C|AZI2_uc003ceg.2_Missense_Mutation_p.S206C|AZI2_uc011axd.1_Missense_Mutation_p.S206C|AZI2_uc003cef.2_Missense_Mutation_p.S206C	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2 isoform a	206	Interaction with TBK1.					mitochondrion|plasma membrane				ovary(2)	2						AGATCTCTGCTCTTCAGATTG	0.328													A	28373891	T	A	28373891	3	1	149	1	0	0	0	0	1	0	0	0	1241	1551	54	5	663	5	AZI2	3	28373891	Missense_Mutation	SNP	T	TCGA-CD-8532-01A-11D-2340-08		28373891	169648539	8	81384											
CDCP1	64866	broad.mit.edu	37	chr3	45160116	45160119	+	Splice_Site	DEL	GAAG	GAAG	-													gagcaatctcaaaagcttctGaaggaaggaaggaaaatgaa							TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr3:45160115_45160118TGAAG>T	uc003com.3	-	2	218	c.83_splice	c.e2-1	p.E28_splice	CDCP1_uc003con.3_Splice_Site_p.E28_splice	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	28						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CAAAAGCTTCTGAAGGAAGGAAGG	0.471													-	45160119	GAAG	-	45160116	8	5	149	1	0	1	0	1	0	0	1	0	3093	1305	45	0		0	CDCP1	3	45160116	Splice_Site	DEL	GAAG	TCGA-CD-8532-01A-11D-2340-08	16786225	45160116	152862314	9	81385											
SNTN	132203	broad.mit.edu	37	chr3	63649696	63649696	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagctagattttgaagacttCatgatcttgctcttaagcat	7	7	3	4			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr3:63649696C>T	uc003dlr.2	+	4	389	c.369C>T	c.(367-369)TTC>TTT	p.F123F		NM_001080537	NP_001074006	A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	123						cilium	calcium ion binding			ovary(1)	1						TTGAAGACTTCATGATCTTGC	0.338													T	63649696	C	T	63649696	2	4	149	1	0	0	0	0	0	0	0	1	14876	825	29	4		4	SNTN	3	63649696	Silent	SNP	C	TCGA-CD-8532-01A-11D-2340-08	18489580	63649696	134372734	10	81386											
ROBO2	6092	broad.mit.edu	37	chr3	77526676	77526676	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagaacccaccatctactGgaaaaaagacaaagttcgaa	6	12	1	2			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr3:77526676G>A	uc003dpy.3	+	3	1143	c.500G>A	c.(499-501)TGG>TAG	p.W167*	ROBO2_uc003dpz.2_Nonsense_Mutation_p.W167*|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Nonsense_Mutation_p.W167*	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	167	Ig-like C2-type 2.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACCATCTACTGGAAAAAAGAC	0.453													A	77526676	G	A	77526676	4	1	149	1	0	0	0	0	0	1	0	0	13514	1357	47	4	512	4	ROBO2	3	77526676	Nonsense_Mutation	SNP	G	TCGA-CD-8532-01A-11D-2340-08	13876980	77526676	120495754	11	81387											
TFG	10342	broad.mit.edu	37	chr3	100463762	100463762	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcctcaacagtatggTattcagtattcaggtgagca	10	9	3	1			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr3:100463762T>C	uc003due.2	+	7	1256	c.807T>C	c.(805-807)GGT>GGC	p.G269G	TFG_uc003duf.2_Silent_p.G269G|TFG_uc003dug.2_Silent_p.G265G|TFG_uc003duh.2_Silent_p.G265G|TFG_uc003dui.2_Silent_p.G269G	NM_006070	NP_006061	Q92734	TFG_HUMAN	TRK-fused	269					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/ALK(7)	haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1)	11						AACAGTATGGTATTCAGTATT	0.448			T	NTRK1|ALK	papillary thyroid|ALCL|NSCLC								C	100463762	T	C	100463762	2	2	149	1	0	0	0	0	0	0	0	1	15803	1625	57	3		3	TFG	3	100463762	Silent	SNP	T	TCGA-CD-8532-01A-11D-2340-08	22937086	100463762	97558668	12	81388											
SOX14	8403	broad.mit.edu	37	chr3	137484052	137484052	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tactccctgctggaccccgcGcagtttagctcgagcgccat	10	16	0	0			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr3:137484052G>T	uc003erm.1	+	1	474	c.426G>T	c.(424-426)GCG>GCT	p.A142A		NM_004189	NP_004180	O95416	SOX14_HUMAN	SRY-box 14	142					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding				0						TGGACCCCGCGCAGTTTAGCT	0.716													T	137484052	G	T	137484052	2	4	149	1	0	0	0	0	0	0	0	1	14945	1074	38	5		5	SOX14	3	137484052	Silent	SNP	G	TCGA-CD-8532-01A-11D-2340-08	37020290	137484052	60538378	13	81389											
EHHADH	1962	broad.mit.edu	37	chr3	184966304	184966304	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgtcacggagtaaagtcgTactaaaagaaaacaaaatac	7	6	1	1			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr3:184966304T>C	uc003fpf.2	-	2	103	c.76A>G	c.(76-78)ACG>GCG	p.T26A	EHHADH_uc011brs.1_5'UTR	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	26	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	AGTAAAGTCGTACTAAAAGAA	0.333													C	184966304	T	C	184966304	3	2	149	1	0	0	0	0	1	0	0	0	4982	1652	57	3	2119	3	EHHADH	3	184966304	Missense_Mutation	SNP	T	TCGA-CD-8532-01A-11D-2340-08	47482252	184966304	13056126	14	81390											
EVC2	132884	broad.mit.edu	37	chr4	5578019	5578019	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttgctcagggcttggtgcaGgacagtagagacctgccttt	13	10	1	1			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr4:5578019G>C	uc003gij.2	-	18	3274	c.3220C>G	c.(3220-3222)CTG>GTG	p.L1074V	EVC2_uc011bwb.1_Missense_Mutation_p.L514V|EVC2_uc003gik.2_Missense_Mutation_p.L994V	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1074	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5						GCTTGGTGCAGGACAGTAGAG	0.592													C	5578019	G	C	5578019	3	2	149	1	0	0	0	0	1	0	0	0	5286	991	35	5	726	5	EVC2	4	5578019	Missense_Mutation	SNP	G	TCGA-CD-8532-01A-11D-2340-08		5578019	185576257	15	81391											
APBB2	323	broad.mit.edu	37	chr4	40824002	40824002	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaaggcaaatgtgtggacGtccttcccaacacccatgaa	9	11	0	2			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr4:40824002G>A	uc003gvl.2	-	17	2625	c.1995C>T	c.(1993-1995)GAC>GAT	p.D665D	APBB2_uc010ifu.2_Silent_p.D237D|APBB2_uc003gvm.2_Silent_p.D643D|APBB2_uc003gvn.2_Silent_p.D666D|APBB2_uc003gvk.2_Silent_p.D117D	NM_173075	NP_775098	Q92870	APBB2_HUMAN	amyloid beta A4 precursor protein-binding,	665	PID 2.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			ovary(2)|large_intestine(1)	3						ATGTGTGGACGTCCTTCCCAA	0.522													A	40824002	G	A	40824002	2	1	149	1	0	0	0	0	0	0	0	1	761	1136	40	1		1	APBB2	4	40824002	Silent	SNP	G	TCGA-CD-8532-01A-11D-2340-08	35245983	40824002	150330274	16	81392											
TXK	7294	broad.mit.edu	37	chr4	48116415	48116415	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaaaccgactggatggtGttatctgaaaagcagatcat	10	7	2	3			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr4:48116415G>A	uc003gxx.3	-	2	107	c.21C>T	c.(19-21)AAC>AAT	p.N7N	TXK_uc003gxy.1_Silent_p.N7N	NM_003328	NP_003319	P42681	TXK_HUMAN	TXK tyrosine kinase	7						cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity				0						ACTGGATGGTGTTATCTGAAA	0.418													A	48116415	G	A	48116415	2	1	149	1	0	0	0	0	0	0	0	1	16783	1368	48	4		4	TXK	4	48116415	Silent	SNP	G	TCGA-CD-8532-01A-11D-2340-08	7292413	48116415	143037861	17	81393											
C4orf33	132321	broad.mit.edu	37	chr4	130030829	130030829	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggacaaaaacctgatttgTaagtagaaaataaatgaaga	8	3	0	4			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr4:130030829T>G	uc003igu.3	+	5	858	c.494_splice	c.e5+2	p.F165_splice	C4orf33_uc010ioc.1_Nonstop_Mutation_p.*166E|C4orf33_uc010iod.2_Splice_Site_p.F165_splice	NM_173487	NP_775758	Q8N1A6	CD033_HUMAN	hypothetical protein LOC132321											upper_aerodigestive_tract(1)	1						ACCTGATTTGTAAGTAGAAAA	0.338													G	130030829	T	G	130030829	5	3	149	1	0	0	0	0	0	0	1	0	2263	1652	57	5	510	5	C4orf33	4	130030829	Splice_Site	SNP	T	TCGA-CD-8532-01A-11D-2340-08	81914414	130030829	61123447	18	81394											
TTC29	83894	broad.mit.edu	37	chr4	147724798	147724798	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagctctactgttgtgtcaaAagcttgctgaaagcattcag	9	8	3	1			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr4:147724798A>T	uc003ikw.3	-	11	1368	c.1141T>A	c.(1141-1143)TTT>ATT	p.F381I	TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Missense_Mutation_p.F407I|TTC29_uc010ipd.1_Missense_Mutation_p.F381I	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	381	TPR 5.						binding				0	all_hematologic(180;0.151)					GTTGTGTCAAAAGCTTGCTGA	0.348													T	147724798	A	T	147724798	3	4	149	1	0	0	0	0	1	0	0	0	16693	14	1	5	298	5	TTC29	4	147724798	Missense_Mutation	SNP	A	TCGA-CD-8532-01A-11D-2340-08	17693969	147724798	43429478	19	81395											
CDSN	1041	broad.mit.edu	37	chr6	31084714	31084714	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgatgggccctccactgcaGggagagtcggggatgtccga	16	11	0	1	rs145637055	byFrequency	TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr6:31084714G>A	uc003nsm.1	-	2	705	c.678C>T	c.(676-678)CCC>CCT	p.P226P	PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin precursor	226	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			ovary(1)|pancreas(1)	2						CTCCACTGCAGGGAGAGTCGG	0.627													A	31084714	G	A	31084714	2	1	149	1	0	0	0	0	0	0	0	1	3179	987	35	4		4	CDSN	6	31084714	Silent	SNP	G	TCGA-CD-8532-01A-11D-2340-08		31084714	140030353	20	81396											
INTS1	26173	broad.mit.edu	37	chr7	1535799	1535799	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccacatccttactcctcttTtctcctttgtcccaggcgat	4	17	2	0			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr7:1535799T>C	uc003skn.2	-	12	1805	c.1704A>G	c.(1702-1704)GAA>GAG	p.E568E	INTS1_uc003skp.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	568					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TACTCCTCTTTTCTCCTTTGT	0.652													C	1535799	T	C	1535799	2	2	149	1	0	0	0	0	0	0	0	1	7775	1838	64	3		3	INTS1	7	1535799	Silent	SNP	T	TCGA-CD-8532-01A-11D-2340-08		1535799	157602864	21	81397											
ZAN	7455	broad.mit.edu	37	chr7	100350373	100350373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaaactcaccatccccaCggaaaaacccaccatcccca	4	18	1	0			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr7:100350373C>T	uc003uwj.2	+	14	2810	c.2645C>T	c.(2644-2646)ACG>ATG	p.T882M	ZAN_uc003uwk.2_Missense_Mutation_p.T882M|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	882	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCATCCCCACGGAAAAACCC	0.502													T	100350373	C	T	100350373	3	4	149	1	0	0	0	0	1	0	0	0	17510	536	19	1	2695	1	ZAN	7	100350373	Missense_Mutation	SNP	C	TCGA-CD-8532-01A-11D-2340-08	98814574	100350373	58788290	22	81398											
KCND2	3751	broad.mit.edu	37	chr7	119914783	119914783	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctatgccggctcccccgaggCaggagaggaaaaggacccaa	13	13	0	1			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr7:119914783C>G	uc003vjj.1	+	1	1062	c.97C>G	c.(97-99)CAG>GAG	p.Q33E		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	33	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					TCCCCCGAGGCAGGAGAGGAA	0.627													G	119914783	C	G	119914783	3	3	149	1	0	0	0	0	1	0	0	0	8019	711	25	5	99	5	KCND2	7	119914783	Missense_Mutation	SNP	C	TCGA-CD-8532-01A-11D-2340-08	19564410	119914783	39223880	23	81399											
CNOT4	4850	broad.mit.edu	37	chr7	135079154	135079154	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccagtctgtagaggatgaTactgggattgtttctgttgg	14	5	2	2			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr7:135079154T>C	uc003vsv.1	-	10	1450	c.1143A>G	c.(1141-1143)GTA>GTG	p.V381V	CNOT4_uc003vss.2_Silent_p.V378V|CNOT4_uc011kpz.1_Silent_p.V378V|CNOT4_uc003vst.2_Silent_p.V381V|CNOT4_uc003vsu.1_Silent_p.V378V|CNOT4_uc011kpy.1_Silent_p.V381V	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	381					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding				0						TAGAGGATGATACTGGGATTG	0.383													C	135079154	T	C	135079154	2	2	149	1	0	0	0	0	0	0	0	1	3621	1393	49	3		3	CNOT4	7	135079154	Silent	SNP	T	TCGA-CD-8532-01A-11D-2340-08	15164371	135079154	24059509	24	81400											
RP1	6101	broad.mit.edu	37	chr8	55542840	55542840	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgtttgagggtgaaaatcTtttcatttgggaagaggaag	13	2	2	3			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr8:55542840T>C	uc003xsd.1	+	4	6546	c.6398T>C	c.(6397-6399)CTT>CCT	p.L2133P	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	2133					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGTGAAAATCTTTTCATTTGG	0.323													C	55542840	T	C	55542840	3	2	149	1	0	0	0	0	1	0	0	0	13532	1609	56	3	6408	3	RP1	8	55542840	Missense_Mutation	SNP	T	TCGA-CD-8532-01A-11D-2340-08		55542840	90821182	25	81401											
ABCA1	19	broad.mit.edu	37	chr9	107571749	107571749	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctaaagtggcactcacggGattgggtttccttccataca	11	10	1	0			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr9:107571749G>A	uc004bcl.2	-	30	4585	c.4272C>T	c.(4270-4272)ATC>ATT	p.I1424I		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1424	Extracellular.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCACTCACGGGATTGGGTTTC	0.507													A	107571749	G	A	107571749	2	1	149	1	0	0	0	0	0	0	0	1	28	1164	41	4		4	ABCA1	9	107571749	Silent	SNP	G	TCGA-CD-8532-01A-11D-2340-08		107571749	33641682	26	81402											
RBP3	5949	broad.mit.edu	37	chr10	48388390	48388390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagccgtagcgctggccggCgacctggggcaaggtccaca	16	13	0	1			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr10:48388390C>T	uc001jez.2	-	1	2602	c.2488G>A	c.(2488-2490)GCC>ACC	p.A830T		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	830	4 X approximate tandem repeats.|3.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	CGCTGGCCGGCGACCTGGGGC	0.607													T	48388390	C	T	48388390	3	4	149	1	0	0	0	0	1	0	0	0	13157	768	27	1	1271	1	RBP3	10	48388390	Missense_Mutation	SNP	C	TCGA-CD-8532-01A-11D-2340-08		48388390	87146357	27	81403											
BRSK2	9024	broad.mit.edu	37	chr11	1472605	1472605	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcctgtgtgcacagttccGacgccggaggagatgtccaa	12	12	0	1	rs3793971		TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr11:1472605G>A	uc001lti.2	+	15	1886	c.1500G>A	c.(1498-1500)CCG>CCA	p.P500P	BRSK2_uc009ycv.1_Silent_p.P522P|BRSK2_uc001lth.1_Silent_p.P500P|BRSK2_uc001ltj.2_Silent_p.P500P|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Silent_p.P500P|BRSK2_uc001ltm.2_Silent_p.P546P|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA|BRSK2_uc009ycw.2_5'UTR	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	500					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GCACAGTTCCGACGCCGGAGG	0.637													A	1472605	G	A	1472605	2	1	149	1	0	0	0	0	0	0	0	1	1524	1045	37	1		1	BRSK2	11	1472605	Silent	SNP	G	TCGA-CD-8532-01A-11D-2340-08		1472605	133533911	28	81404											
SERPING1	710	broad.mit.edu	37	chr11	57381843	57381843	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttaacctgtgtgggctgaCagaggacccagatcttcagg	12	11	2	3			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr11:57381843C>A	uc001nkp.1	+	8	1483	c.1292C>A	c.(1291-1293)ACA>AAA	p.T431K	SERPING1_uc001nkq.1_Missense_Mutation_p.T394K|SERPING1_uc010rju.1_Missense_Mutation_p.T379K|SERPING1_uc010rjv.1_Missense_Mutation_p.T436K|SERPING1_uc001nkr.1_Missense_Mutation_p.T431K|SERPING1_uc009ymi.1_Missense_Mutation_p.T440K|SERPING1_uc009ymj.1_3'UTR|SERPING1_uc001nks.1_Missense_Mutation_p.T122K	NM_000062	NP_000053	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	431					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)	1						TGTGGGCTGACAGAGGACCCA	0.522									Hereditary_Angioedema				A	57381843	C	A	57381843	3	1	149	1	0	0	0	0	1	0	0	0	14116	478	17	5	1318	5	SERPING1	11	57381843	Missense_Mutation	SNP	C	TCGA-CD-8532-01A-11D-2340-08	55909238	57381843	77624673	29	81405											
C11orf2	738	broad.mit.edu	37	chr11	64863866	64863866	+	Frame_Shift_Del	DEL	G	G	-													ggcctctcggaaggggaggcGgcgggacgccccgcggggcc							TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr11:64863866delG	uc001ocr.1	+	1	184	c.144delG	c.(142-144)GCGfs	p.A48fs		NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	48					lipid transport|protein transport	Golgi apparatus|integral to membrane					0						AAGGGGAGGCGGCGGGACGCC	0.701													-	64863866	G	-	64863866	7	5	149	1	0	1	0	1	0	0	0	0	1633	1103	39	0	146	0	C11orf2	11	64863866	Frame_Shift_Del	DEL	G	TCGA-CD-8532-01A-11D-2340-08	7482023	64863866	70142650	30	81406											
ODZ4	26011	broad.mit.edu	37	chr11	78413143	78413143	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccactgggggccccagcaacGagtgagatctctccactagt	11	14	1	1			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr11:78413143G>A	uc001ozl.3	-	28	4978	c.4515C>T	c.(4513-4515)CTC>CTT	p.L1505L	ODZ4_uc009yvb.1_Silent_p.L89L	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1505	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						CCCCAGCAACGAGTGAGATCT	0.473													A	78413143	G	A	78413143	2	1	149	1	0	0	0	0	0	0	0	1	10837	1045	37	1		1	ODZ4	11	78413143	Silent	SNP	G	TCGA-CD-8532-01A-11D-2340-08	13549277	78413143	56593373	31	81407											
ETNK1	55500	broad.mit.edu	37	chr12	22796905	22796905	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggactatgctatgaatttaTacaaggagaagcactggatc	10	6	0	2			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr12:22796905T>C	uc001rft.2	+	2	654	c.632T>C	c.(631-633)ATA>ACA	p.I211T	ETNK1_uc009ziz.2_Missense_Mutation_p.I211T|ETNK1_uc001rfs.2_Missense_Mutation_p.I211T	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1 isoform A	211					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity				0						TATGAATTTATACAAGGAGAA	0.398													C	22796905	T	C	22796905	3	2	149	1	0	0	0	0	1	0	0	0	5273	1406	49	3	638	3	ETNK1	12	22796905	Missense_Mutation	SNP	T	TCGA-CD-8532-01A-11D-2340-08		22796905	111054990	32	81408											
ATF7	11016	broad.mit.edu	37	chr12	53918448	53918448	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgggaggctgcagcccggTtgcgctccagaaagcgctgc	16	13	0	1			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr12:53918448T>C	uc001sdy.2	-	9	1079	c.1058A>G	c.(1057-1059)AAC>AGC	p.N353S	ATF7_uc010sok.1_RNA|ATF7_uc001sdz.2_Missense_Mutation_p.N342S|ATF7_uc010sol.1_Missense_Mutation_p.N321S	NM_001130059	NP_001123531	P17544	ATF7_HUMAN	activating transcription factor 7 isoform 1	353	Basic motif.|Essential for binding adenovirus 2 E1A.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						TGCAGCCCGGTTGCGCTCCAG	0.607													C	53918448	T	C	53918448	3	2	149	1	0	0	0	0	1	0	0	0	1086	1725	60	3	438	3	ATF7	12	53918448	Missense_Mutation	SNP	T	TCGA-CD-8532-01A-11D-2340-08	31121543	53918448	79933447	33	81409											
TMX1	81542	broad.mit.edu	37	chr14	51713861	51713861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccaaggactaagaaggaCttcataaactttataagtga	9	6	1	2			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr14:51713861C>T	uc001wza.3	+	4	491	c.366C>T	c.(364-366)GAC>GAT	p.D122D	TMX1_uc010aoa.2_Silent_p.D38D	NM_030755	NP_110382	Q9H3N1	TMX1_HUMAN	thioredoxin domain containing 1 precursor	122	Thioredoxin.|Extracellular (Potential).				anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity				0						CTAAGAAGGACTTCATAAACT	0.363													T	51713861	C	T	51713861	2	4	149	1	0	0	0	0	0	0	0	1	16263	564	20	4		4	TMX1	14	51713861	Silent	SNP	C	TCGA-CD-8532-01A-11D-2340-08		51713861	55635679	34	81410											
DLST	1743	broad.mit.edu	37	chr14	75361090	75361090	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacatgtgcaatgctgacaActtttaatgagattgacatg	8	6	0	3			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr14:75361090A>G	uc001xqv.2	+	10	811	c.748A>G	c.(748-750)ACT>GCT	p.T250A	DLST_uc001xqu.2_Missense_Mutation_p.T162A|DLST_uc001xqt.2_Missense_Mutation_p.T166A|DLST_uc010tuw.1_Missense_Mutation_p.T164A|DLST_uc001xqs.2_RNA|DLST_uc010tuv.1_Missense_Mutation_p.T250A	NM_001933	NP_001924	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2	250					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00698)		AATGCTGACAACTTTTAATGA	0.468													G	75361090	A	G	75361090	3	3	149	1	0	0	0	0	1	0	0	0	4569	43	2	3	786	3	DLST	14	75361090	Missense_Mutation	SNP	A	TCGA-CD-8532-01A-11D-2340-08	23647229	75361090	31988450	35	81411											
DENND4A	10260	broad.mit.edu	37	chr15	65989678	65989678	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtatcccctcttctaacTtcatctttagataatgaatt	4	9	4	2			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr15:65989678T>C	uc002aph.2	-	20	3123	c.2745A>G	c.(2743-2745)GAA>GAG	p.E915E	DENND4A_uc002api.2_Silent_p.E958E|DENND4A_uc002apj.3_Silent_p.E915E	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	915					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						CTCTTCTAACTTCATCTTTAG	0.318													C	65989678	T	C	65989678	2	2	149	1	0	0	0	0	0	0	0	1	4433	1606	56	3		3	DENND4A	15	65989678	Silent	SNP	T	TCGA-CD-8532-01A-11D-2340-08		65989678	36541714	36	81412											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84611717	84611717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtcggcagctgctaacGgatggcagctttttgaatct	11	10	1	1			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr15:84611717G>A	uc002bjz.3	+	19	2597	c.2373G>A	c.(2371-2373)ACG>ACA	p.T791T	ADAMTSL3_uc010bmt.1_Silent_p.T791T|ADAMTSL3_uc010bmu.1_Silent_p.T791T	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	791	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCTGCTAACGGATGGCAGCT	0.547													A	84611717	G	A	84611717	2	1	149	1	0	0	0	0	0	0	0	1	276	1103	39	1		1	ADAMTSL3	15	84611717	Silent	SNP	G	TCGA-CD-8532-01A-11D-2340-08	18622039	84611717	17919675	37	81413											
ADAD2	161931	broad.mit.edu	37	chr16	84228960	84228960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctggtggctctgggcacCggcagcagctgctgtgctgg	17	11	1	0			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr16:84228960C>T	uc002fhr.2	+	5	906	c.792C>T	c.(790-792)ACC>ACT	p.T264T	ADAD2_uc002fhq.2_Silent_p.T346T|uc002fhs.1_5'UTR	NM_001145400	NP_001138872	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2 isoform	264	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding				0						CTCTGGGCACCGGCAGCAGCT	0.677													T	84228960	C	T	84228960	2	4	149	1	0	0	0	0	0	0	0	1	232	639	23	1		1	ADAD2	16	84228960	Silent	SNP	C	TCGA-CD-8532-01A-11D-2340-08		84228960	6125793	38	81414											
SLC35B1	10237	broad.mit.edu	37	chr17	47783608	47783608	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtagtgctgaattgctggaGaccatggcacccagatagga	13	8	0	3			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr17:47783608G>A	uc002iph.1	-	3	384	c.297C>T	c.(295-297)GTC>GTT	p.V99V	SLC35B1_uc002ipi.1_Silent_p.V32V|SLC35B1_uc002ipj.1_5'UTR|SLC35B1_uc010wly.1_Silent_p.V99V	NM_005827	NP_005818	P78383	S35B1_HUMAN	solute carrier family 35, member B1	99	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity				0						AATTGCTGGAGACCATGGCAC	0.498													A	47783608	G	A	47783608	2	1	149	1	0	0	0	0	0	0	0	1	14575	929	33	4		4	SLC35B1	17	47783608	Silent	SNP	G	TCGA-CD-8532-01A-11D-2340-08		47783608	33411602	39	81415											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	149	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-CD-8532-01A-11D-2340-08	8602776	56386384	24808826	40	81416											
ATP8B3	148229	broad.mit.edu	37	chr19	1785587	1785587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtcatgaagaagttgaCcagagaggtggtcacaccat	12	8	2	4			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr19:1785587C>T	uc002ltw.2	-	26	3508	c.3274G>A	c.(3274-3276)GTC>ATC	p.V1092I	ATP8B3_uc002ltv.2_Missense_Mutation_p.V1055I|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	1092	Helical; (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGAAGTTGACCAGAGAGGTG	0.612													T	1785587	C	T	1785587	3	4	149	1	0	0	0	0	1	0	0	0	1196	507	18	4	644	4	ATP8B3	19	1785587	Missense_Mutation	SNP	C	TCGA-CD-8532-01A-11D-2340-08		1785587	57343396	41	81417											
ZNF567	163081	broad.mit.edu	37	chr19	37210533	37210533	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcattgatcatcagagaactCacacaggagagaaacccttt	7	10	4	3			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr19:37210533C>T	uc010xtl.1	+	6	1129	c.907C>T	c.(907-909)CAC>TAC	p.H303Y	ZNF567_uc002oeo.1_Missense_Mutation_p.H303Y|ZNF567_uc010xtk.1_Missense_Mutation_p.H303Y|ZNF567_uc002oep.3_Missense_Mutation_p.H272Y|ZNF567_uc002oeq.1_Missense_Mutation_p.H272Y	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	zinc finger protein 567	303	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCAGAGAACTCACACAGGAGA	0.423													T	37210533	C	T	37210533	3	4	149	1	0	0	0	0	1	0	0	0	17995	826	29	4	824	4	ZNF567	19	37210533	Missense_Mutation	SNP	C	TCGA-CD-8532-01A-11D-2340-08	35424946	37210533	21918450	42	81418											
CIC	23152	broad.mit.edu	37	chr19	42791342	42791346	+	Frame_Shift_Del	DEL	CCCAG	CCCAG	-													gaggaggaggcctccggcccCccaggagagccccggctgga							TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr19:42791341_42791345CCCCAG>C	uc002otf.1	+	2	441_445	c.401_405CCCCAG>C	c.(400-405)cccccafs	p.P134fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	134	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCTCCGGCCCCCCAGGAGAGCCCC	0.663			"Mis, F, S"		oligodendroglioma								-	42791346	CCCAG	-	42791342	7	5	149	1	0	1	0	1	0	0	0	0	3424	610	22	0	412	0	CIC	19	42791342	Frame_Shift_Del	DEL	CCCAG	TCGA-CD-8532-01A-11D-2340-08	5580809	42791342	16337641	43	81419											
PSG3	5671	broad.mit.edu	37	chr19	43242982	43242982	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcccgggtgacattctggatCagcagggatgcattggaata	13	8	2	1			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr19:43242982C>T	uc002oue.2	-	2	456	c.324G>A	c.(322-324)CTG>CTA	p.L108L	PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Silent_p.L130L	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	108	Ig-like V-type.				defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				CATTCTGGATCAGCAGGGATG	0.448													T	43242982	C	T	43242982	2	4	149	1	0	0	0	0	0	0	0	1	12656	813	29	4		4	PSG3	19	43242982	Silent	SNP	C	TCGA-CD-8532-01A-11D-2340-08	451640	43242982	15886001	44	81420											
SLC8A2	6543	broad.mit.edu	37	chr19	47969473	47969473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccttgtcacccagcgacGggtcgtcgggctcccacacg	12	18	1	0			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr19:47969473G>A	uc002pgx.2	-	2	466	c.188C>T	c.(187-189)CCG>CTG	p.P63L	SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.P63L	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	63	Extracellular (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ACCCAGCGACGGGTCGTCGGG	0.672													A	47969473	G	A	47969473	3	1	149	1	0	0	0	0	1	0	0	0	14707	1116	39	1	2613	1	SLC8A2	19	47969473	Missense_Mutation	SNP	G	TCGA-CD-8532-01A-11D-2340-08	4726491	47969473	11159510	45	81421											
BIRC8	112401	broad.mit.edu	37	chr19	53793270	53793270	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgaaatcaaatcccattcGtatagcttcttgtagcatag	6	9	2	1	rs113838023	byFrequency	TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr19:53793270G>A	uc002qbk.2	-	1	1606	c.358C>T	c.(358-360)CGA>TGA	p.R120*		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat-containing 8	120					apoptosis		zinc ion binding	p.R120*(1)		lung(1)	1				GBM - Glioblastoma multiforme(134;0.00304)		AATCCCATTCGTATAGCTTCT	0.383													A	53793270	G	A	53793270	4	1	149	1	0	0	0	0	0	1	0	0	1440	1153	40	1	356	1	BIRC8	19	53793270	Nonsense_Mutation	SNP	G	TCGA-CD-8532-01A-11D-2340-08	5823797	53793270	5335713	46	81422											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56704310	56704310	+	Missense_Mutation	SNP	T	T	A													gtgccaagtctcagggttccTgtcgtgatttccaagttgag							TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr19:56704310T>A	uc010ygh.1	-	1	112	c.112A>T	c.(112-114)AGG>TGG	p.R38W		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	38					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						TCAGGGTTCCTGTCGTGATTT	0.562													A	56704310	T	A	56704310	3	1	149	1	0	0	0	0	1	0	0	0	18236	1579	55	5	1391	5	ZSCAN5B	19	56704310	Missense_Mutation	SNP	T	TCGA-CD-8532-01A-11D-2340-08	2911040	56704310	2424673	47	81423	404	2									
ZSCAN5B	342933	broad.mit.edu	37	chr19	56704314	56704314	+	Silent	SNP	G	G	A													caagtctcagggttcctgtcGtgatttccaagttgagtttc							TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr19:56704314G>A	uc010ygh.1	-	1	108	c.108C>T	c.(106-108)CAC>CAT	p.H36H		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	36					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						GGTTCCTGTCGTGATTTCCAA	0.562													A	56704314	G	A	56704314	2	1	149	1	0	0	0	0	0	0	0	1	18236	1136	40	1		1	ZSCAN5B	19	56704314	Silent	SNP	G	TCGA-CD-8532-01A-11D-2340-08	4	56704314	2424669	48	81424	404	2									
ZNF470	388566	broad.mit.edu	37	chr19	57089694	57089694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgggaaagcctttagccatCgtaaatcccttactctgcat	8	11	1	0	rs143160710		TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr19:57089694C>T	uc002qnl.3	+	6	2573	c.1897C>T	c.(1897-1899)CGT>TGT	p.R633C	ZNF470_uc010etn.2_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	633	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CTTTAGCCATCGTAAATCCCT	0.433													T	57089694	C	T	57089694	3	4	149	1	0	0	0	0	1	0	0	0	17926	884	31	1	1911	1	ZNF470	19	57089694	Missense_Mutation	SNP	C	TCGA-CD-8532-01A-11D-2340-08	385380	57089694	2039289	49	81425											
ATRN	8455	broad.mit.edu	37	chr20	3541448	3541448	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtatgcagtggttgggcactCtgcacacattgttacactga	11	9	1	1			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr20:3541448C>T	uc002wim.2	+	8	1433	c.1343C>T	c.(1342-1344)TCT>TTT	p.S448F	ATRN_uc002wil.2_Missense_Mutation_p.S448F	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	448	Extracellular (Potential).|Kelch 2.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2						GTTGGGCACTCTGCACACATT	0.453													T	3541448	C	T	3541448	3	4	149	1	0	0	0	0	1	0	0	0	1206	913	32	4	1373	4	ATRN	20	3541448	Missense_Mutation	SNP	C	TCGA-CD-8532-01A-11D-2340-08		3541448	59484072	50	81426											
GDF5	8200	broad.mit.edu	37	chr20	34021881	34021881	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctggatgactgcatgattCgtgggctccaggtgggagcg	17	8	1	2			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr20:34021881C>T	uc010gfc.1	-	2	1573	c.1332G>A	c.(1330-1332)ACG>ACA	p.T444T	uc002xcj.2_Missense_Mutation_p.R98C|GDF5_uc002xck.1_Silent_p.T444T|GDF5_uc010zvc.1_Silent_p.T444T	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	444					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CTGCATGATTCGTGGGCTCCA	0.612													T	34021881	C	T	34021881	2	4	149	1	0	0	0	0	0	0	0	1	6316	871	31	1		1	GDF5	20	34021881	Silent	SNP	C	TCGA-CD-8532-01A-11D-2340-08	30480433	34021881	29003639	51	81427											
CLDN8	9073	broad.mit.edu	37	chr21	31587979	31587979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagccaagaaggacatcaCggaagcagcacacatcagtc	10	11	2	1			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr21:31587979C>T	uc002ynu.1	-	1	340	c.265G>A	c.(265-267)GTG>ATG	p.V89M		NM_199328	NP_955360	P56748	CLD8_HUMAN	claudin 8	89	Helical; (Potential).				calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0						AAGGACATCACGGAAGCAGCA	0.537													T	31587979	C	T	31587979	3	4	149	1	0	0	0	0	1	0	0	0	3491	536	19	1	416	1	CLDN8	21	31587979	Missense_Mutation	SNP	C	TCGA-CD-8532-01A-11D-2340-08		31587979	16541916	52	81428											
SAPS2	9701	broad.mit.edu	37	chr22	50878172	50878172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgagccagcgaactcaaCgcccacagccccaggagtgg	12	14	1	2	rs148549099		TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chr22:50878172C>T	uc003blb.1	+	21	2593	c.2171C>T	c.(2170-2172)ACG>ATG	p.T724M	SAPS2_uc003bky.1_Missense_Mutation_p.T698M|SAPS2_uc003bkz.1_Missense_Mutation_p.T697M|SAPS2_uc003blc.2_Missense_Mutation_p.T724M|SAPS2_uc003bla.1_Missense_Mutation_p.T698M|SAPS2_uc003bld.1_Missense_Mutation_p.T257M	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2	724						cytoplasm|intracellular membrane-bounded organelle	protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.222)		GCGAACTCAACGCCCACAGCC	0.632													T	50878172	C	T	50878172	3	4	149	1	0	0	0	0	1	0	0	0	13837	536	19	1	2156	1	SAPS2	22	50878172	Missense_Mutation	SNP	C	TCGA-CD-8532-01A-11D-2340-08		50878172	426394	53	81429											
ZNF157	7712	broad.mit.edu	37	chrX	47272403	47272403	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtggggagtgtgggaaaaacTtccgtgcaaagaaatcccta	13	7	0	1			TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chrX:47272403T>A	uc004dhr.1	+	4	1000	c.931T>A	c.(931-933)TTC>ATC	p.F311I		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	311	C2H2-type 6.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TGGGAAAAACTTCCGTGCAAA	0.423													A	47272403	T	A	47272403	3	1	149	1	0	0	0	0	1	0	0	0	17734	1609	56	5	945	5	ZNF157	23	47272403	Missense_Mutation	SNP	T	TCGA-CD-8532-01A-11D-2340-08		47272403	107998157	54	81430											
KDM5C	8242	broad.mit.edu	37	chrX	53228037	53228038	+	Frame_Shift_Ins	INS	-	-	A													gaaccttcagcttatgcagcINSatggcaggaagctcatccaa							TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chrX:53228037_53228038insA	uc004drz.2	-	16	2809_2810	c.2276_2277insT	c.(2275-2277)ATGfs	p.M759fs	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Frame_Shift_Ins_p.M692fs|KDM5C_uc004dsa.2_Frame_Shift_Ins_p.M758fs	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	759					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						GCTTATGCAGCATGGCAGGAAG	0.579			N|F|S		clear cell renal carcinoma								A	53228038	-	A	53228037	7	5	149	1	0	1	1	0	0	0	0	0	8135	710	25	0	2547	0	KDM5C	23	53228037	Frame_Shift_Ins	INS	-	TCGA-CD-8532-01A-11D-2340-08	5955634	53228037	102042523	55	81431	405	2									
KDM5C	8242	broad.mit.edu	37	chrX	53228038	53228039	+	Frame_Shift_Ins	INS	-	-	A													aaccttcagcttatgcagcaINStggcaggaagctcatccaag							TCGA-CD-8532-01A-11D-2340-08	TCGA-CD-8532-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a078dcc-ae7b-4b2d-a013-2183a7dc39a3	6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03	g.chrX:53228037_53228038C>CA	uc004drz.3	-	15	2809_2810	c.2276_2277G>TG	c.(2275-2277)atgfs	p.M759fs	KDM5C_uc022bxe.1_Frame_Shift_Ins_p.M692fs|KDM5C_uc004dsa.3_Frame_Shift_Ins_p.M758fs	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	759					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GCTTATGCAGCATGGCAGGAAG	0.579			"N, F, S"		clear cell renal carcinoma								A	53228039	-	A	53228038	7	5	149	1	0	1	1	0	0	0	0	0	8135	217	8	0	2548	0	KDM5C	23	53228038	Frame_Shift_Ins	INS	-	TCGA-CD-8532-01A-11D-2340-08	1	53228038	102042522	56	81432	405	2									
DNAJC11	55735	broad.mit.edu	37	chr1	6712953	6712953	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	taatggaacctcctccatttCcattctgggttgagaggctt	9	10	1	1			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr1:6712953C>A	uc001aof.2	-	6	672	c.566G>T	c.(565-567)GGA>GTA	p.G189V	DNAJC11_uc010nzt.1_Missense_Mutation_p.G151V|DNAJC11_uc001aog.2_Missense_Mutation_p.G189V|DNAJC11_uc010nzu.1_Missense_Mutation_p.G99V	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	189					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTCCATTTCCATTCTGGGT	0.463													A	6712953	C	A	6712953	3	1	150	1	0	0	0	0	1	0	0	0	4630	855	30	5	1157	5	DNAJC11	1	6712953	Missense_Mutation	SNP	C	TCGA-CD-8534-01A-11D-2340-08		6712953	242537668	1	81433											
SPEN	23013	broad.mit.edu	37	chr1	16260713	16260713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcactggcctggtgaacGtctccctggtcccggtgaat	11	14	2	2			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr1:16260713G>A	uc001axk.1	+	11	8182	c.7978G>A	c.(7978-7980)GTC>ATC	p.V2660I	SPEN_uc010obp.1_Missense_Mutation_p.V2619I	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2660	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCTGGTGAACGTCTCCCTGGT	0.562													A	16260713	G	A	16260713	3	1	150	1	0	0	0	0	1	0	0	0	15037	1145	40	1	8020	1	SPEN	1	16260713	Missense_Mutation	SNP	G	TCGA-CD-8534-01A-11D-2340-08	9547760	16260713	232989908	2	81434											
TXLNA	200081	broad.mit.edu	37	chr1	32660744	32660744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacccaggagcaccgagcaCagaagcatcaggccagactg	11	14	1	2			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr1:32660744C>T	uc001bui.2	+	11	1654	c.1589C>T	c.(1588-1590)ACA>ATA	p.T530I	TXLNA_uc001buj.2_Missense_Mutation_p.T530I	NM_175852	NP_787048	P40222	TXLNA_HUMAN	taxilin	530				T -> A (in Ref. 2; CAD91138).	cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCACCGAGCACAGAAGCATCA	0.667													T	32660744	C	T	32660744	3	4	150	1	0	0	0	0	1	0	0	0	16784	478	17	4	1627	4	TXLNA	1	32660744	Missense_Mutation	SNP	C	TCGA-CD-8534-01A-11D-2340-08	16400031	32660744	216589877	3	81435											
SEMA6C	10500	broad.mit.edu	37	chr1	151110229	151110229	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acagagacctcgcggaagaaGaagtagacatggtctccatg	12	9	1	4			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr1:151110229G>T	uc001ewu.2	-	10	1014	c.714C>A	c.(712-714)TTC>TTA	p.F238L	SEMA6C_uc001ewv.2_Missense_Mutation_p.F238L|SEMA6C_uc001eww.2_Missense_Mutation_p.F198L|SEMA6C_uc010pcq.1_Missense_Mutation_p.F238L|SEMA6C_uc009wml.1_RNA	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	238	Extracellular (Potential).|Sema.					integral to membrane	receptor activity			ovary(1)|skin(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGCGGAAGAAGAAGTAGACAT	0.557													T	151110229	G	T	151110229	3	4	150	1	0	0	0	0	1	0	0	0	14041	933	33	5	2218	5	SEMA6C	1	151110229	Missense_Mutation	SNP	G	TCGA-CD-8534-01A-11D-2340-08	118449485	151110229	98140392	4	81436											
ISG20L2	81875	broad.mit.edu	37	chr1	156696911	156696911	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcacagtcaattgccaccatCttccgtggcaacttctggga	8	13	4	0			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr1:156696911C>T	uc001fps.1	-	1	795	c.534G>A	c.(532-534)AAG>AAA	p.K178K	ISG20L2_uc001fpt.1_Silent_p.K178K|C1orf66_uc001fpu.2_5'Flank|C1orf66_uc001fpv.2_5'Flank	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene	178	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGCCACCATCTTCCGTGGCA	0.493											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	156696911	C	T	156696911	2	4	150	1	0	0	0	0	0	0	0	1	7855	912	32	4		4	ISG20L2	1	156696911	Silent	SNP	C	TCGA-CD-8534-01A-11D-2340-08	5586682	156696911	92553710	5	81437											
ARHGAP30	257106	broad.mit.edu	37	chr1	161023088	161023088	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagagctggtccacgtgtgtGaggatgaactccacgacgat	13	9	0	3			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr1:161023088G>A	uc001fxl.2	-	6	970	c.624C>T	c.(622-624)CTC>CTT	p.L208L	ARHGAP30_uc001fxk.2_Silent_p.L208L|ARHGAP30_uc001fxm.2_Silent_p.L54L|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_Silent_p.L54L	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	208	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCACGTGTGTGAGGATGAACT	0.557													A	161023088	G	A	161023088	2	1	150	1	0	0	0	0	0	0	0	1	879	1277	45	4		4	ARHGAP30	1	161023088	Silent	SNP	G	TCGA-CD-8534-01A-11D-2340-08	4326177	161023088	88227533	6	81438											
TDRD5	163589	broad.mit.edu	37	chr1	179631422	179631422	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaaagaaatgccacagaagGttagatccttggaaaaatag	10	5	0	3			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr1:179631422G>T	uc001gnf.1	+	14	2593	c.2343_splice	c.e14+1	p.K781_splice	TDRD5_uc010pnp.1_Splice_Site_p.K835_splice|TDRD5_uc001gnh.1_Splice_Site_p.K336_splice	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5						DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|skin(2)|central_nervous_system(1)	5						GCCACAGAAGGTTAGATCCTT	0.269													T	179631422	G	T	179631422	5	4	150	1	0	0	0	0	0	0	1	0	15730	1275	44	5	2394	5	TDRD5	1	179631422	Splice_Site	SNP	G	TCGA-CD-8534-01A-11D-2340-08	18608334	179631422	69619199	7	81439											
KIF21B	23046	broad.mit.edu	37	chr1	200969033	200969033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccgcctcgttctcatccGtctcctcgctgttctcctgt	6	19	3	0			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr1:200969033G>A	uc001gvs.1	-	12	2062	c.1745C>T	c.(1744-1746)ACG>ATG	p.T582M	KIF21B_uc001gvr.1_Missense_Mutation_p.T582M|KIF21B_uc009wzl.1_Missense_Mutation_p.T582M|KIF21B_uc010ppn.1_Missense_Mutation_p.T582M	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	582	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						GTTCTCATCCGTCTCCTCGCT	0.627													A	200969033	G	A	200969033	3	1	150	1	0	0	0	0	1	0	0	0	8289	1145	40	1	3221	1	KIF21B	1	200969033	Missense_Mutation	SNP	G	TCGA-CD-8534-01A-11D-2340-08	21337611	200969033	48281588	8	81440											
RYR2	6262	broad.mit.edu	37	chr1	237617837	237617837	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agacaaacagaacagactacGagccctgaagaatcggcaaa	9	10	0	5			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr1:237617837G>T	uc001hyl.1	+	15	1559	c.1439G>T	c.(1438-1440)CGA>CTA	p.R480L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	480	Cytoplasmic (By similarity).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACAGACTACGAGCCCTGAAG	0.443													T	237617837	G	T	237617837	3	4	150	1	0	0	0	0	1	0	0	0	13769	1058	37	5	1497	5	RYR2	1	237617837	Missense_Mutation	SNP	G	TCGA-CD-8534-01A-11D-2340-08	36648804	237617837	11632784	9	81441											
RYR2	6262	broad.mit.edu	37	chr1	237765353	237765353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtacaaaattatttcctgCggtttttgcacaagctacaa	7	8	0	0			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr1:237765353C>T	uc001hyl.1	+	35	4745	c.4625C>T	c.(4624-4626)GCG>GTG	p.A1542V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1542	Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTATTTCCTGCGGTTTTTGCA	0.299													T	237765353	C	T	237765353	3	4	150	1	0	0	0	0	1	0	0	0	13769	768	27	1	4763	1	RYR2	1	237765353	Missense_Mutation	SNP	C	TCGA-CD-8534-01A-11D-2340-08	147516	237765353	11485268	10	81442											
LTBP1	4052	broad.mit.edu	37	chr2	33589405	33589405	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcagaaaaaagatgtataCgaccggctgagtcaaacggt	11	8	2	3			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr2:33589405C>T	uc002ros.2	+	30	4525	c.4525C>T	c.(4525-4527)CGA>TGA	p.R1509*	LTBP1_uc002rot.2_Nonsense_Mutation_p.R1183*|LTBP1_uc002rou.2_Nonsense_Mutation_p.R1182*|LTBP1_uc002rov.2_Nonsense_Mutation_p.R1129*|LTBP1_uc010ymz.1_Nonsense_Mutation_p.R1140*|LTBP1_uc010yna.1_Nonsense_Mutation_p.R1087*|LTBP1_uc010ynb.1_Nonsense_Mutation_p.R406*	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1508					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAGATGTATACGACCGGCTGA	0.408													T	33589405	C	T	33589405	4	4	150	1	0	0	0	0	0	1	0	0	9073	528	19	1	4695	1	LTBP1	2	33589405	Nonsense_Mutation	SNP	C	TCGA-CD-8534-01A-11D-2340-08		33589405	209609968	11	81443											
ZNF638	27332	broad.mit.edu	37	chr2	71591185	71591185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaagtcacagattccgtcGgtctcgaagcccaatgcatt	8	13	3	1			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr2:71591185G>A	uc002shx.2	+	5	1839	c.1520G>A	c.(1519-1521)CGG>CAG	p.R507Q	ZNF638_uc010fec.2_Missense_Mutation_p.R613Q|ZNF638_uc010yqw.1_Missense_Mutation_p.R86Q|ZNF638_uc002shw.2_Missense_Mutation_p.R507Q|ZNF638_uc002shy.2_Missense_Mutation_p.R507Q|ZNF638_uc002shz.2_Missense_Mutation_p.R507Q|ZNF638_uc002sia.2_Missense_Mutation_p.R507Q|ZNF638_uc002sib.1_Missense_Mutation_p.R507Q|ZNF638_uc010fed.2_5'Flank	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	507	Arg-rich.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						AGATTCCGTCGGTCTCGAAGC	0.453													A	71591185	G	A	71591185	3	1	150	1	0	0	0	0	1	0	0	0	18052	1116	39	1	1534	1	ZNF638	2	71591185	Missense_Mutation	SNP	G	TCGA-CD-8534-01A-11D-2340-08	38001780	71591185	171608188	12	81444											
IWS1	55677	broad.mit.edu	37	chr2	128244161	128244161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttccacattccatttggGcctgacaacatagtccttgt	6	12	0	1			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr2:128244161G>A	uc002ton.2	-	13	2599	c.2296C>T	c.(2296-2298)CCC>TCC	p.P766S		NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	766					transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TTCCATTTGGGCCTGACAACA	0.493													A	128244161	G	A	128244161	3	1	150	1	0	0	0	0	1	0	0	0	7931	1203	42	2	171	2	IWS1	2	128244161	Missense_Mutation	SNP	G	TCGA-CD-8534-01A-11D-2340-08	56652976	128244161	114955212	13	81445											
SGOL2	151246	broad.mit.edu	37	chr2	201437550	201437550	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaaaccaaccaaatatatgaGaatgataacaaaggtgtaca	7	6	0	2	rs150234762	by1000genomes	TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr2:201437550G>C	uc002uvw.2	+	7	2594	c.2481G>C	c.(2479-2481)GAG>GAC	p.E827D	SGOL2_uc010zhd.1_Missense_Mutation_p.E827D|SGOL2_uc010zhe.1_Missense_Mutation_p.E827D	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2 isoform 1	827					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)|skin(2)	4						AAATATATGAGAATGATAACA	0.323													C	201437550	G	C	201437550	3	2	150	1	0	0	0	0	1	0	0	0	14217	933	33	5	2503	5	SGOL2	2	201437550	Missense_Mutation	SNP	G	TCGA-CD-8534-01A-11D-2340-08	73193389	201437550	41761823	14	81446											
PTPRN	5798	broad.mit.edu	37	chr2	220164444	220164444	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgttgatgaagctgcctgAggacatgtgcacatgctcag	13	8	1	3			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr2:220164444A>G	uc002vkz.2	-	10	1590	c.1501T>C	c.(1501-1503)TCA>CCA	p.S501P	PTPRN_uc010zlc.1_Missense_Mutation_p.S411P|PTPRN_uc002vla.2_Intron	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	501	Extracellular (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AAGCTGCCTGAGGACATGTGC	0.602													G	220164444	A	G	220164444	3	3	150	1	0	0	0	0	1	0	0	0	12807	304	11	3	1494	3	PTPRN	2	220164444	Missense_Mutation	SNP	A	TCGA-CD-8534-01A-11D-2340-08	18726894	220164444	23034929	15	81447											
CHL1	10752	broad.mit.edu	37	chr3	439943	439943	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagatatcaggagtaaatcTtactcaaaagactcacccaa	6	9	4	2			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr3:439943T>A	uc003bou.2	+	24	3351	c.3080T>A	c.(3079-3081)CTT>CAT	p.L1027H	CHL1_uc003bot.2_Missense_Mutation_p.L1043H|CHL1_uc003bow.1_Missense_Mutation_p.L1027H|CHL1_uc011asi.1_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	1027	Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GGAGTAAATCTTACTCAAAAG	0.348													A	439943	T	A	439943	3	1	150	1	0	0	0	0	1	0	0	0	3349	1609	56	5	3218	5	CHL1	3	439943	Missense_Mutation	SNP	T	TCGA-CD-8534-01A-11D-2340-08		439943	197582487	16	81448											
CACNA1D	776	broad.mit.edu	37	chr3	53757546	53757546	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcctccaagcatatttcgtCtctcttttcaaccggtttga	7	12	3	1			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr3:53757546C>T	uc003dgv.3	+	13	1915	c.1752C>T	c.(1750-1752)GTC>GTT	p.V584V	CACNA1D_uc003dgu.3_Silent_p.V604V|CACNA1D_uc003dgy.3_Silent_p.V584V|CACNA1D_uc003dgw.3_Silent_p.V251V	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	584	Cytoplasmic (Potential).|II.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CATATTTCGTCTCTCTTTTCA	0.478													T	53757546	C	T	53757546	2	4	150	1	0	0	0	0	0	0	0	1	2541	900	32	4		4	CACNA1D	3	53757546	Silent	SNP	C	TCGA-CD-8534-01A-11D-2340-08	53317603	53757546	144264884	17	81449											
IGSF10	285313	broad.mit.edu	37	chr3	151155062	151155062	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtaagaataactggcttctgGccaatttctaatatgactaa	7	7	2	2			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr3:151155062G>C	uc011bod.1	-	6	7287	c.7287C>G	c.(7285-7287)GGC>GGG	p.G2429G	IGSF10_uc011bob.1_Silent_p.G456G|IGSF10_uc011boc.1_Silent_p.G408G	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	2429					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGGCTTCTGGCCAATTTCTA	0.403													C	151155062	G	C	151155062	2	2	150	1	0	0	0	0	0	0	0	1	7597	1190	42	5		5	IGSF10	3	151155062	Silent	SNP	G	TCGA-CD-8534-01A-11D-2340-08	97397516	151155062	46867368	18	81450											
EIF4G1	1981	broad.mit.edu	37	chr3	184046450	184046450	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttggaattggctgaggacAtggaaattgacatcccccac	10	10	1	2	rs112809828		TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr3:184046450A>G	uc003fnp.2	+	27	4183	c.3985A>G	c.(3985-3987)ATG>GTG	p.M1329V	EIF4G1_uc003fnt.2_Missense_Mutation_p.M1040V|EIF4G1_uc003fnq.2_Missense_Mutation_p.M1242V|EIF4G1_uc003fnr.2_Missense_Mutation_p.M1165V|EIF4G1_uc010hxx.2_Missense_Mutation_p.M1336V|EIF4G1_uc003fns.2_Missense_Mutation_p.M1289V|EIF4G1_uc010hxy.2_Missense_Mutation_p.M1336V|EIF4G1_uc003fnv.3_Missense_Mutation_p.M1330V|EIF4G1_uc003fnu.3_Missense_Mutation_p.M1329V|EIF4G1_uc003fnw.2_Missense_Mutation_p.M1336V|EIF4G1_uc003fnx.2_Missense_Mutation_p.M1134V|EIF4G1_uc003fny.3_Missense_Mutation_p.M1133V|EIF4G1_uc003foa.2_Missense_Mutation_p.M1V	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1329	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCTGAGGACATGGAAATTGA	0.532													G	184046450	A	G	184046450	3	3	150	1	0	0	0	0	1	0	0	0	5036	217	8	3	4083	3	EIF4G1	3	184046450	Missense_Mutation	SNP	A	TCGA-CD-8534-01A-11D-2340-08	32891388	184046450	13975980	19	81451											
PPP2R2C	5522	broad.mit.edu	37	chr4	6325201	6325201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccccccacgcacacgcgcCgtggcttgagcacagcccgg	12	19	0	1			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr4:6325201C>T	uc003gjc.2	-	9	1542	c.1172G>A	c.(1171-1173)CGG>CAG	p.R391Q	PPP2R2C_uc003gjb.2_Missense_Mutation_p.R374Q|PPP2R2C_uc011bwd.1_Missense_Mutation_p.R384Q|PPP2R2C_uc011bwe.1_Missense_Mutation_p.R384Q|PPP2R2C_uc003gja.2_Missense_Mutation_p.R391Q	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	391					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						GCACACGCGCCGTGGCTTGAG	0.627													T	6325201	C	T	6325201	3	4	150	1	0	0	0	0	1	0	0	0	12386	652	23	1	175	1	PPP2R2C	4	6325201	Missense_Mutation	SNP	C	TCGA-CD-8534-01A-11D-2340-08		6325201	184829075	20	81452											
TLL1	7092	broad.mit.edu	37	chr4	166981211	166981211	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacttcttaccaaacttaaCggcaccataaccacccctgg	6	15	1	0	rs114032464	by1000genomes	TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr4:166981211C>T	uc003irh.1	+	15	2525	c.1878C>T	c.(1876-1878)AAC>AAT	p.N626N	TLL1_uc011cjn.1_Silent_p.N649N|TLL1_uc011cjo.1_Silent_p.N450N	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	626	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CCAAACTTAACGGCACCATAA	0.463													T	166981211	C	T	166981211	2	4	150	1	0	0	0	0	0	0	0	1	15942	535	19	1		1	TLL1	4	166981211	Silent	SNP	C	TCGA-CD-8534-01A-11D-2340-08	160656010	166981211	24173065	21	81453											
MYO10	4651	broad.mit.edu	37	chr5	16671582	16671582	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttttggcacgttgtctgtGtccaggaagcagtaaagttt	11	7	2	0			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr5:16671582G>A	uc003jft.3	-	38	5847	c.5379C>T	c.(5377-5379)GAC>GAT	p.D1793D	MYO10_uc011cnb.1_Silent_p.D422D|MYO10_uc011cnc.1_Silent_p.D672D|MYO10_uc011cnd.1_Silent_p.D1150D|MYO10_uc011cne.1_Silent_p.D1150D|MYO10_uc010itx.2_Silent_p.D1415D	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1793	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						CGTTGTCTGTGTCCAGGAAGC	0.463													A	16671582	G	A	16671582	2	1	150	1	0	0	0	0	0	0	0	1	10062	1368	48	4		4	MYO10	5	16671582	Silent	SNP	G	TCGA-CD-8534-01A-11D-2340-08		16671582	164243678	22	81454											
MAST4	375449	broad.mit.edu	37	chr5	66430464	66430464	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgaatttctggttggatgCgtgccattctttggggatac	12	6	2	1			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr5:66430464C>T	uc003jut.1	+	17	1841	c.1773C>T	c.(1771-1773)TGC>TGT	p.C591C	MAST4_uc003juu.1_Silent_p.C601C|MAST4_uc011cra.1_Silent_p.C574C|MAST4_uc003juv.2_Silent_p.C586C|MAST4_uc003juw.2_Silent_p.C586C	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	783	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TGGTTGGATGCGTGCCATTCT	0.468													T	66430464	C	T	66430464	2	4	150	1	0	0	0	0	0	0	0	1	9327	776	27	1		1	MAST4	5	66430464	Silent	SNP	C	TCGA-CD-8534-01A-11D-2340-08	49758882	66430464	114484796	23	81455											
FTSJD2	23070	broad.mit.edu	37	chr6	37440259	37440259	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgaagttctttgagctaaTccaggtaagactggtatctg	10	7	2	2			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr6:37440259T>C	uc003ons.2	+	16	1938	c.1685T>C	c.(1684-1686)ATC>ACC	p.I562T		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	FtsJ methyltransferase domain containing 2	562					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						TTTGAGCTAATCCAGGTAAGA	0.468													C	37440259	T	C	37440259	3	2	150	1	0	0	0	0	1	0	0	0	6091	1435	50	3	1743	3	FTSJD2	6	37440259	Missense_Mutation	SNP	T	TCGA-CD-8534-01A-11D-2340-08		37440259	133674808	24	81456											
GPR115	221393	broad.mit.edu	37	chr6	47675062	47675062	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgttcccactatagatccaaGattcacctaaaagtaagttt	5	9	1	2			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr6:47675062G>A	uc003oza.1	+	2	339	c.81G>A	c.(79-81)AAG>AAA	p.K27K	GPR115_uc003oyz.1_Silent_p.K84K|GPR115_uc003ozb.1_Silent_p.K25K	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115 precursor	27	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						ATAGATCCAAGATTCACCTAA	0.398													A	47675062	G	A	47675062	2	1	150	1	0	0	0	0	0	0	0	1	6632	933	33	4		4	GPR115	6	47675062	Silent	SNP	G	TCGA-CD-8534-01A-11D-2340-08	10234803	47675062	123440005	25	81457											
COL10A1	1300	broad.mit.edu	37	chr6	116442355	116442355	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggccagcaggtcctctttcTcccttcaggcctggcaagcc	10	16	3	0			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr6:116442355T>G	uc003pwm.2	-	3	1020	c.924A>C	c.(922-924)GGA>GGC	p.G308G	NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	type X collagen alpha 1 precursor	308	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)	1		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GTCCTCTTTCTCCCTTCAGGC	0.632													G	116442355	T	G	116442355	2	3	150	1	0	0	0	0	0	0	0	1	3666	1538	54	5		5	COL10A1	6	116442355	Silent	SNP	T	TCGA-CD-8534-01A-11D-2340-08	68767293	116442355	54672712	26	81458											
SYNE1	23345	broad.mit.edu	37	chr6	152711422	152711422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggttctgtacctttgagCgtggacggaggagctcatga	14	7	2	2			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr6:152711422C>T	uc010kiw.2	-	53	8772	c.8170G>A	c.(8170-8172)GCT>ACT	p.A2724T	SYNE1_uc003qot.3_Missense_Mutation_p.A2731T|SYNE1_uc003qou.3_Missense_Mutation_p.A2724T|SYNE1_uc010kjb.1_Missense_Mutation_p.A2707T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2724	Cytoplasmic (Potential).|HAT 5.				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)		TACCTTTGAGCGTGGACGGAG	0.463										HNSCC(10;0.0054)			T	152711422	C	T	152711422	3	4	150	1	0	0	0	0	1	0	0	0	15442	768	27	1	18672	1	SYNE1	6	152711422	Missense_Mutation	SNP	C	TCGA-CD-8534-01A-11D-2340-08	36269067	152711422	18403645	27	81459											
ACHE	43	broad.mit.edu	37	chr7	100489999	100489999	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatcgcatcagtcgctgggcGaagattttctcctctgccgt	10	12	3	1			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr7:100489999G>A	uc003uxd.2	-	2	1665	c.1509C>T	c.(1507-1509)TTC>TTT	p.F503F	UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Silent_p.F503F|ACHE_uc003uxf.2_Silent_p.F503F|ACHE_uc003uxg.2_Silent_p.F503F|ACHE_uc003uxh.2_Silent_p.F415F|ACHE_uc003uxi.2_Silent_p.F503F	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	503					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GTCGCTGGGCGAAGATTTTCT	0.627													A	100489999	G	A	100489999	2	1	150	1	0	0	0	0	0	0	0	1	141	1049	37	1		1	ACHE	7	100489999	Silent	SNP	G	TCGA-CD-8534-01A-11D-2340-08		100489999	58648664	28	81460											
CASP2	835	broad.mit.edu	37	chr7	143001838	143001838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctcaagtgttttctgagCgggcttgtgatatgcacgtg	13	7	2	2			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr7:143001838C>T	uc003wco.2	+	10	1336	c.1189C>T	c.(1189-1191)CGG>TGG	p.R397W	CASP2_uc003wcp.2_3'UTR|CASP2_uc011kta.1_Missense_Mutation_p.R281W|CASP2_uc003wcq.2_RNA|CASP2_uc011ktb.1_Missense_Mutation_p.R147W	NM_032982	NP_116764	P42575	CASP2_HUMAN	caspase 2 isoform 1 preproprotein	397					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			lung(2)|ovary(1)	3	Melanoma(164;0.059)					GTTTTCTGAGCGGGCTTGTGA	0.552													T	143001838	C	T	143001838	3	4	150	1	0	0	0	0	1	0	0	0	2671	759	27	1	1227	1	CASP2	7	143001838	Missense_Mutation	SNP	C	TCGA-CD-8534-01A-11D-2340-08	42511839	143001838	16136825	29	81461											
SNTG1	54212	broad.mit.edu	37	chr8	51617181	51617181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtgacctgctggaccgaCggaaacagtgcttcaccgtg	12	12	1	1			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr8:51617181C>T	uc010lxy.1	+	17	1431	c.1060C>T	c.(1060-1062)CGG>TGG	p.R354W	SNTG1_uc003xqs.1_Missense_Mutation_p.R354W|SNTG1_uc010lxz.1_Missense_Mutation_p.R354W|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	354	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCTGGACCGACGGAAACAGTG	0.557													T	51617181	C	T	51617181	3	4	150	1	0	0	0	0	1	0	0	0	14874	527	19	1	1114	1	SNTG1	8	51617181	Missense_Mutation	SNP	C	TCGA-CD-8534-01A-11D-2340-08		51617181	94746841	30	81462											
CHD7	55636	broad.mit.edu	37	chr8	61693580	61693580	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	attccccgtcggagccctttCtagagaaaccagtgccggat	10	13	1	1			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr8:61693580C>G	uc003xue.2	+	3	2164	c.1687C>G	c.(1687-1689)CTA>GTA	p.L563V		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	563	Pro-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAGCCCTTTCTAGAGAAACC	0.433													G	61693580	C	G	61693580	3	3	150	1	0	0	0	0	1	0	0	0	3330	912	32	5	1693	5	CHD7	8	61693580	Missense_Mutation	SNP	C	TCGA-CD-8534-01A-11D-2340-08	10076399	61693580	84670442	31	81463											
SULF1	23213	broad.mit.edu	37	chr8	70515861	70515862	+	Frame_Shift_Ins	INS	-	-	T													acaaacaagaaggccaaaatINSttggcgtgatacattcctag							TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr8:70515860_70515861A>AT	uc003xyg.2	+	10	1777_1778	c.1216_1217A>AT	c.(1216-1218)attfs	p.I406fs	SULF1_uc010lza.1_Frame_Shift_Ins_p.I406fs|SULF1_uc003xyd.2_Frame_Shift_Ins_p.I406fs|SULF1_uc003xye.2_Frame_Shift_Ins_p.I406fs|SULF1_uc003xyf.2_Frame_Shift_Ins_p.I406fs|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	406					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GAAGGCCAAAATTTGGCGTGAT	0.411													T	70515862	-	T	70515861	7	5	150	1	0	1	1	0	0	0	0	0	15369	1493	52	0	1247	0	SULF1	8	70515861	Frame_Shift_Ins	INS	-	TCGA-CD-8534-01A-11D-2340-08	8822281	70515861	75848161	32	81464											
FAM92A1	137392	broad.mit.edu	37	chr8	94717228	94717228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagcgaaacccatctgatcGacatgttattgtatcctttg	7	10	2	1			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr8:94717228G>A	uc010maq.2	+	4	525	c.422G>A	c.(421-423)CGA>CAA	p.R141Q	FAM92A1_uc003yfu.1_RNA|FAM92A1_uc003yfv.3_RNA	NM_145269	NP_660312	A1XBS5	F92A1_HUMAN	hypothetical protein LOC137392	141	Potential.										0	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCATCTGATCGACATGTTATT	0.338													A	94717228	G	A	94717228	3	1	150	1	0	0	0	0	1	0	0	0	5652	1058	37	1	436	1	FAM92A1	8	94717228	Missense_Mutation	SNP	G	TCGA-CD-8534-01A-11D-2340-08	24201367	94717228	51646794	33	81465											
CSMD3	114788	broad.mit.edu	37	chr8	113318352	113318352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaaaaataggtaactcgcGttcctaccaaatagtctgtt	6	9	1	0			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr8:113318352G>A	uc003ynu.2	-	51	8114	c.7955C>T	c.(7954-7956)ACG>ATG	p.T2652M	CSMD3_uc003yns.2_Missense_Mutation_p.T1854M|CSMD3_uc003ynt.2_Missense_Mutation_p.T2612M|CSMD3_uc011lhx.1_Missense_Mutation_p.T2548M	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2652	Extracellular (Potential).|Sushi 15.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GGTAACTCGCGTTCCTACCAA	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113318352	G	A	113318352	3	1	150	1	0	0	0	0	1	0	0	0	3946	1145	40	1	3252	1	CSMD3	8	113318352	Missense_Mutation	SNP	G	TCGA-CD-8534-01A-11D-2340-08	18601124	113318352	33045670	34	81466											
DMRT2	10655	broad.mit.edu	37	chr9	1056234	1056234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctatcgccccattccagCggagacttatgtaggaggga	13	10	0	1	rs150037258	byFrequency	TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr9:1056234C>T	uc003zha.2	+	4	847	c.647C>T	c.(646-648)GCG>GTG	p.A216V	DMRT2_uc003zgx.3_5'UTR|DMRT2_uc010mgz.2_5'UTR|DMRT2_uc003zgy.3_Missense_Mutation_p.A60V|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Missense_Mutation_p.A216V	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor	216					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CCCATTCCAGCGGAGACTTAT	0.448													T	1056234	C	T	1056234	3	4	150	1	0	0	0	0	1	0	0	0	4586	768	27	1	714	1	DMRT2	9	1056234	Missense_Mutation	SNP	C	TCGA-CD-8534-01A-11D-2340-08		1056234	140157197	35	81467											
KIAA2026	158358	broad.mit.edu	37	chr9	5968714	5968714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaatttctccaatttaatcCgaggtactctttgtatttta	4	8	3	0			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr9:5968714C>T	uc003zjq.3	-	3	1733	c.1517G>A	c.(1516-1518)CGG>CAG	p.R506Q		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	506										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CAATTTAATCCGAGGTACTCT	0.408													T	5968714	C	T	5968714	3	4	150	1	0	0	0	0	1	0	0	0	8270	652	23	1	4818	1	KIAA2026	9	5968714	Missense_Mutation	SNP	C	TCGA-CD-8534-01A-11D-2340-08	4912480	5968714	135244717	36	81468											
DIRAS2	54769	broad.mit.edu	37	chr9	93375892	93375892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctttggagatggacagcCgctgcatggccgggaactgg	16	11	0	1			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr9:93375892C>T	uc004aqx.1	-	2	329	c.218G>A	c.(217-219)CGG>CAG	p.R73Q		NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Di-Ras2	73					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity				0						GATGGACAGCCGCTGCATGGC	0.567													T	93375892	C	T	93375892	3	4	150	1	0	0	0	0	1	0	0	0	4531	652	23	1	385	1	DIRAS2	9	93375892	Missense_Mutation	SNP	C	TCGA-CD-8534-01A-11D-2340-08	87407178	93375892	47837539	37	81469											
GLT6D1	360203	broad.mit.edu	37	chr9	138516139	138516139	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatgcaagctgctgaggtcGgcctcctctcataagggaag	14	10	1	1			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr9:138516139G>T	uc010nbd.1	-	5	889	c.635C>A	c.(634-636)CCG>CAG	p.P212Q		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	212	Lumenal (Potential).				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			ovary(1)	1		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TGCTGAGGTCGGCCTCCTCTC	0.512													T	138516139	G	T	138516139	3	4	150	1	0	0	0	0	1	0	0	0	6468	1116	39	5	199	5	GLT6D1	9	138516139	Missense_Mutation	SNP	G	TCGA-CD-8534-01A-11D-2340-08	45140247	138516139	2697292	38	81470											
JMJD1C	221037	broad.mit.edu	37	chr10	64958456	64958456	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagaagagaaaccatctaTtctaactactccgtttttac	6	9	2	2			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr10:64958456T>C	uc001jmn.2	-	12	5608	c.5308A>G	c.(5308-5310)ATA>GTA	p.I1770V	JMJD1C_uc001jml.2_Missense_Mutation_p.I1551V|JMJD1C_uc001jmm.2_Missense_Mutation_p.I1482V|JMJD1C_uc010qiq.1_Missense_Mutation_p.I1588V|JMJD1C_uc009xpi.2_Missense_Mutation_p.I1588V|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Intron	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1770					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAACCATCTATTCTAACTACT	0.303													C	64958456	T	C	64958456	3	2	150	1	0	0	0	0	1	0	0	0	7950	1493	52	3	2374	3	JMJD1C	10	64958456	Missense_Mutation	SNP	T	TCGA-CD-8534-01A-11D-2340-08		64958456	70576291	39	81471											
IFIT2	3433	broad.mit.edu	37	chr10	91066746	91066746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattcttgccagcctccatGctctagcagatcagtatgaa	7	13	3	2			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr10:91066746G>A	uc009xts.2	+	2	1208	c.1033G>A	c.(1033-1035)GCT>ACT	p.A345T	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	interferon-induced protein with	345	TPR 5.				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			ovary(1)|skin(1)	2		Colorectal(252;0.0161)				CAGCCTCCATGCTCTAGCAGA	0.458													A	91066746	G	A	91066746	3	1	150	1	0	0	0	0	1	0	0	0	7523	1319	46	2	1039	2	IFIT2	10	91066746	Missense_Mutation	SNP	G	TCGA-CD-8534-01A-11D-2340-08	26108290	91066746	44468001	40	81472											
AFAP1L2	84632	broad.mit.edu	37	chr10	116061162	116061162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcatacagctcctcctggCggtcctggctaggcaggcca	12	15	1	0			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr10:116061162C>T	uc001lbn.2	-	13	1794	c.1493G>A	c.(1492-1494)CGC>CAC	p.R498H	AFAP1L2_uc001lbo.2_Missense_Mutation_p.R498H|AFAP1L2_uc010qse.1_Missense_Mutation_p.R551H|AFAP1L2_uc001lbp.2_Missense_Mutation_p.R526H|AFAP1L2_uc001lbr.1_Missense_Mutation_p.R498H|AFAP1L2_uc001lbm.2_Missense_Mutation_p.R20H|AFAP1L2_uc010qsd.1_Missense_Mutation_p.R64H|AFAP1L2_uc001lbq.1_Missense_Mutation_p.R20H	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	KIAA1914 protein isoform 1	498					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			ovary(1)|breast(1)	2		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTCCTCCTGGCGGTCCTGGCT	0.617													T	116061162	C	T	116061162	3	4	150	1	0	0	0	0	1	0	0	0	355	768	27	1	991	1	AFAP1L2	10	116061162	Missense_Mutation	SNP	C	TCGA-CD-8534-01A-11D-2340-08	24994416	116061162	19473585	41	81473											
SSRP1	6749	broad.mit.edu	37	chr11	57100226	57100226	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggtagatccgaatgtcaTaacgaccacgaggagtcaga	13	8	2	2			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr11:57100226T>C	uc001njt.2	-	6	908	c.641A>G	c.(640-642)TAT>TGT	p.Y214C	SSRP1_uc010rjq.1_Missense_Mutation_p.Y214C	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	214					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			ovary(2)	2						CCGAATGTCATAACGACCACG	0.522													C	57100226	T	C	57100226	3	2	150	1	0	0	0	0	1	0	0	0	15193	1406	49	3	1536	3	SSRP1	11	57100226	Missense_Mutation	SNP	T	TCGA-CD-8534-01A-11D-2340-08		57100226	77906290	42	81474											
DDB1	1642	broad.mit.edu	37	chr11	61076454	61076454	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaagtggtccaggcctcaCcgtgctattgatgctggcta	11	12	1	1			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr11:61076454C>T	uc001nrc.3	-	21	2887	c.2661_splice	c.e21+1	p.T887_splice	DDB1_uc010rle.1_Splice_Site_p.T198_splice|DDB1_uc010rlf.1_Splice_Site_p.T887_splice	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1						cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						CCAGGCCTCACCGTGCTATTG	0.502								NER					T	61076454	C	T	61076454	5	4	150	1	0	0	0	0	0	0	1	0	4323	521	18	4	788	4	DDB1	11	61076454	Splice_Site	SNP	C	TCGA-CD-8534-01A-11D-2340-08	3976228	61076454	73930062	43	81475											
CCDC87	55231	broad.mit.edu	37	chr11	66360392	66360392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggcgcttctgaggctctGgggacgtcgtcctagtgggg	20	9	2	1			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr11:66360392G>A	uc001oiq.3	-	1	163	c.95C>T	c.(94-96)CCA>CTA	p.P32L	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	32										ovary(1)|skin(1)	2						CTGAGGCTCTGGGGACGTCGT	0.672											OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	66360392	G	A	66360392	3	1	150	1	0	0	0	0	1	0	0	0	2862	1348	47	4	2458	4	CCDC87	11	66360392	Missense_Mutation	SNP	G	TCGA-CD-8534-01A-11D-2340-08	5283938	66360392	68646124	44	81476											
MMP27	64066	broad.mit.edu	37	chr11	102575437	102575437	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccgaattttgtcatctatgaGactcctattcttgctttgaa	6	9	3	2			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr11:102575437G>A	uc001phd.1	-	2	195	c.172C>T	c.(172-174)CTC>TTC	p.L58F		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	matrix metalloproteinase 27 precursor	58					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TCATCTATGAGACTCCTATTC	0.378													A	102575437	G	A	102575437	3	1	150	1	0	0	0	0	1	0	0	0	9664	942	33	4	1405	4	MMP27	11	102575437	Missense_Mutation	SNP	G	TCGA-CD-8534-01A-11D-2340-08	36215045	102575437	32431079	45	81477											
ATM	472	broad.mit.edu	37	chr11	108205742	108205742	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggtgactatacagtcatTtaaagcagaatttcgcttag	8	7	2	2			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr11:108205742T>G	uc001pkb.1	+	55	8442	c.8057T>G	c.(8056-8058)TTT>TGT	p.F2686C	ATM_uc009yxr.1_Missense_Mutation_p.F2686C|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.F1338C	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2686					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATACAGTCATTTAAAGCAGAA	0.373			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			G	108205742	T	G	108205742	3	3	150	1	0	0	0	0	1	0	0	0	1109	1841	64	5	8271	5	ATM	11	108205742	Missense_Mutation	SNP	T	TCGA-CD-8534-01A-11D-2340-08	5630305	108205742	26800774	46	81478											
KDM5A	5927	broad.mit.edu	37	chr12	427605	427605	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgagcacgttcatgaaacTcttccacatcatctagcaga	6	13	4	3			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr12:427605T>A	uc001qif.1	-	19	2927	c.2564A>T	c.(2563-2565)GAG>GTG	p.E855V	KDM5A_uc001qie.1_Missense_Mutation_p.E855V|KDM5A_uc010sdn.1_Missense_Mutation_p.E814V	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	855					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						TTCATGAAACTCTTCCACATC	0.368			T 	NUP98	AML								A	427605	T	A	427605	3	1	150	1	0	0	0	0	1	0	0	0	8133	1551	54	5	2548	5	KDM5A	12	427605	Missense_Mutation	SNP	T	TCGA-CD-8534-01A-11D-2340-08		427605	133424290	47	81479											
KCNA6	3742	broad.mit.edu	37	chr12	4920527	4920527	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggaaagatcgtgggctcGctgtgtgccatcgctggggt	19	8	0	1			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr12:4920527G>A	uc001qng.2	+	1	2186	c.1320G>A	c.(1318-1320)TCG>TCA	p.S440S		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	440	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						TCGTGGGCTCGCTGTGTGCCA	0.602										HNSCC(72;0.22)			A	4920527	G	A	4920527	2	1	150	1	0	0	0	0	0	0	0	1	8007	1074	38	1		1	KCNA6	12	4920527	Silent	SNP	G	TCGA-CD-8534-01A-11D-2340-08	4492922	4920527	128931368	48	81480											
LEPREL2	10536	broad.mit.edu	37	chr12	6948180	6948180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggctcgggtgcgtcctcGctgtgggcgccttgtggcct	16	14	0	0			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr12:6948180G>A	uc001qra.1	+	16	1956	c.1922G>A	c.(1921-1923)CGC>CAC	p.R641H	LEPREL2_uc001qqz.1_Missense_Mutation_p.R448H|LEPREL2_uc001qrb.1_Missense_Mutation_p.R448H|GNB3_uc001qrc.2_5'Flank|GNB3_uc001qrd.2_5'Flank|GNB3_uc009zfe.2_5'Flank	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN	leprecan-like 2 precursor	641	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity				0					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTGCGTCCTCGCTGTGGGCGC	0.657													A	6948180	G	A	6948180	3	1	150	1	0	0	0	0	1	0	0	0	8731	1087	38	1	1975	1	LEPREL2	12	6948180	Missense_Mutation	SNP	G	TCGA-CD-8534-01A-11D-2340-08	2027653	6948180	126903715	49	81481											
ENDOU	8909	broad.mit.edu	37	chr12	48105513	48105513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccacttccttatagtagcCgtcccagttgaactgcattg	8	13	0	1			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr12:48105513C>T	uc001rpu.1	-	9	1172	c.1018G>A	c.(1018-1020)GGC>AGC	p.G340S	ENDOU_uc010sll.1_Intron|ENDOU_uc001rpt.1_Missense_Mutation_p.G299S|ENDOU_uc010slm.1_Missense_Mutation_p.G277S	NM_006025	NP_006016	P21128	ENDOU_HUMAN	placental protein 11 precursor	340					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			ovary(2)|pancreas(1)	3						TTATAGTAGCCGTCCCAGTTG	0.547													T	48105513	C	T	48105513	3	4	150	1	0	0	0	0	1	0	0	0	5116	652	23	1	222	1	ENDOU	12	48105513	Missense_Mutation	SNP	C	TCGA-CD-8534-01A-11D-2340-08	41157333	48105513	85746382	50	81482											
OR6C1	390321	broad.mit.edu	37	chr12	55715045	55715045	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcctacatatacattatcaGaacaattttgagaattcctt	4	8	1	2			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr12:55715045G>A	uc010spi.1	+	1	662	c.662G>A	c.(661-663)AGA>AAA	p.R221K		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	221	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2						TACATTATCAGAACAATTTTG	0.383													A	55715045	G	A	55715045	3	1	150	1	0	0	0	0	1	0	0	0	11190	942	33	4	664	4	OR6C1	12	55715045	Missense_Mutation	SNP	G	TCGA-CD-8534-01A-11D-2340-08	7609532	55715045	78136850	51	81483											
LRP1	4035	broad.mit.edu	37	chr12	57591339	57591339	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaatccagggcctgaacaaCgccgttgccttggattttga	10	11	0	2	rs138786816		TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr12:57591339C>T	uc001snd.2	+	58	9640	c.9174C>T	c.(9172-9174)AAC>AAT	p.N3058N		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3058	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCTGAACAACGCCGTTGCCT	0.557													T	57591339	C	T	57591339	2	4	150	1	0	0	0	0	0	0	0	1	8951	535	19	1		1	LRP1	12	57591339	Silent	SNP	C	TCGA-CD-8534-01A-11D-2340-08	1876294	57591339	76260556	52	81484											
SLC5A8	160728	broad.mit.edu	37	chr12	101603479	101603479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcactgcggtcattctgcGgccgcccatcaggaagtcct	13	14	3	0			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr12:101603479G>A	uc001thz.3	-	1	538	c.148C>T	c.(148-150)CGC>TGC	p.R50C		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	50	Cytoplasmic (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						GTCATTCTGCGGCCGCCCATC	0.662													A	101603479	G	A	101603479	3	1	150	1	0	0	0	0	1	0	0	0	14671	1116	39	1	1744	1	SLC5A8	12	101603479	Missense_Mutation	SNP	G	TCGA-CD-8534-01A-11D-2340-08	44012140	101603479	32248416	53	81485											
NAA25	80018	broad.mit.edu	37	chr12	112528652	112528652	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctttccagttctctgtaaaCcaattgcctttaaaacctga	5	11	1	1			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr12:112528652C>A	uc001ttm.2	-	3	181	c.161G>T	c.(160-162)GGT>GTT	p.G54V	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.G26V|NAA25_uc009zwa.1_Missense_Mutation_p.G54V	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	54	TPR 2.					cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						TCTCTGTAAACCAATTGCCTT	0.408													A	112528652	C	A	112528652	3	1	150	1	0	0	0	0	1	0	0	0	10121	507	18	5	2845	5	NAA25	12	112528652	Missense_Mutation	SNP	C	TCGA-CD-8534-01A-11D-2340-08	10925173	112528652	21323243	54	81486											
P2RX4	5025	broad.mit.edu	37	chr12	121659754	121659754	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcatgaccaacgtgatcctCaccatgaaccagacacaggg	9	13	2	4			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr12:121659754C>T	uc001tzr.2	+	3	625	c.321C>T	c.(319-321)CTC>CTT	p.L107L	P2RX4_uc010szr.1_RNA|P2RX4_uc010szs.1_Intron|P2RX4_uc009zxc.2_Silent_p.L107L|P2RX4_uc001tzs.2_Silent_p.L123L|P2RX4_uc009zxb.2_RNA|P2RX4_uc010szt.1_Silent_p.L6L	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	purinergic receptor P2X4	107	Extracellular (Potential).				endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACGTGATCCTCACCATGAACC	0.637													T	121659754	C	T	121659754	2	4	150	1	0	0	0	0	0	0	0	1	11342	813	29	4		4	P2RX4	12	121659754	Silent	SNP	C	TCGA-CD-8534-01A-11D-2340-08	9131102	121659754	12192141	55	81487											
RBM26	64062	broad.mit.edu	37	chr13	79911413	79911413	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattcctctgccccgaccagAtgaaagaatccctcgtttgg	8	13	1	3			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr13:79911413A>G	uc001vkz.2	-	19	2577	c.2563T>C	c.(2563-2565)TCT>CCT	p.S855P	RBM26_uc001vky.2_Missense_Mutation_p.S826P|RBM26_uc001vla.2_Missense_Mutation_p.S829P|RBM26_uc010tia.1_Missense_Mutation_p.S210P|RBM26_uc001vkx.2_Missense_Mutation_p.S565P	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	853					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CCCCGACCAGATGAAAGAATC	0.532													G	79911413	A	G	79911413	3	3	150	1	0	0	0	0	1	0	0	0	13126	333	12	3	482	3	RBM26	13	79911413	Missense_Mutation	SNP	A	TCGA-CD-8534-01A-11D-2340-08		79911413	35258465	56	81488											
SDR39U1	56948	broad.mit.edu	37	chr14	24912008	24912008	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaacgcgcctgcgtaaagtTtagagtttacctcacctcag	8	12	2	1	rs17184766	by1000genomes	TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr14:24912008T>C	uc001wpm.2	-	1	1	c.-31_splice	c.e1-1		SDR39U1_uc001wpi.2_5'Flank|SDR39U1_uc001wpj.2_5'Flank|SDR39U1_uc001wpk.2_5'Flank|SDR39U1_uc001wpl.2_5'Flank|SDR39U1_uc001wpn.2_Intron|uc001wpo.1_5'Flank	NM_020195	NP_064580	Q9NRG7	D39U1_HUMAN	short chain dehydrogenase/reductase family 39U,								binding			pancreas(1)	1						TGCGTAAAGTTTAGAGTTTAC	0.582													C	24912008	T	C	24912008	5	2	150	1	0	0	0	0	0	0	1	0	13972	1856	64	3		3	SDR39U1	14	24912008	Splice_Site	SNP	T	TCGA-CD-8534-01A-11D-2340-08		24912008	82437532	57	81489											
KLHDC1	122773	broad.mit.edu	37	chr14	50206898	50206898	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgacttacttgccttggatAcagtaagaaaatcttatatc	6	7	1	2			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr14:50206898A>G	uc001www.2	+	11	1007	c.979A>G	c.(979-981)ACA>GCA	p.T327A	SDCCAG1_uc010anj.1_Intron|KLHDC1_uc010tqg.1_Missense_Mutation_p.T282A|KLHDC1_uc010tqh.1_Missense_Mutation_p.T242A	NM_172193	NP_751943	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	327	Kelch 6.					cytoplasm				pancreas(1)	1	all_epithelial(31;0.00244)|Breast(41;0.00964)					TGCCTTGGATACAGTAAGAAA	0.323													G	50206898	A	G	50206898	3	3	150	1	0	0	0	0	1	0	0	0	8354	391	14	3	1021	3	KLHDC1	14	50206898	Missense_Mutation	SNP	A	TCGA-CD-8534-01A-11D-2340-08	25294890	50206898	57142642	58	81490											
SCAMP2	10066	broad.mit.edu	37	chr15	75137840	75137840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaggaagactgagagcaCggcacagagggtgaagaagc	17	7	0	5			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr15:75137840C>T	uc002azb.1	-	8	903	c.829G>A	c.(829-831)GTG>ATG	p.V277M	ULK3_uc010ulp.1_5'Flank|ULK3_uc010ulq.1_5'Flank|ULK3_uc010ulr.1_5'Flank|ULK3_uc010bkf.1_5'Flank|ULK3_uc002ayv.2_5'Flank|ULK3_uc010uls.1_5'Flank|ULK3_uc010ult.1_5'Flank|ULK3_uc010ulu.1_5'Flank|SCAMP2_uc002aza.1_Missense_Mutation_p.V127M|SCAMP2_uc010bkg.1_RNA	NM_005697	NP_005688	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	277	Helical; (Potential).				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			ovary(1)	1						ACTGAGAGCACGGCACAGAGG	0.562													T	75137840	C	T	75137840	3	4	150	1	0	0	0	0	1	0	0	0	13871	536	19	1	168	1	SCAMP2	15	75137840	Missense_Mutation	SNP	C	TCGA-CD-8534-01A-11D-2340-08		75137840	27393552	59	81491											
LINGO1	84894	broad.mit.edu	37	chr15	77906417	77906417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgttgaacttgcggggcGcgtcggcggagctgatgcct	16	10	1	2			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr15:77906417G>A	uc002bct.1	-	2	1884	c.1832C>T	c.(1831-1833)GCG>GTG	p.A611V	LINGO1_uc002bcu.1_Missense_Mutation_p.A605V	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	611	Cytoplasmic (Potential).				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2						CTTGCGGGGCGCGTCGGCGGA	0.483													A	77906417	G	A	77906417	3	1	150	1	0	0	0	0	1	0	0	0	8814	1087	38	1	34	1	LINGO1	15	77906417	Missense_Mutation	SNP	G	TCGA-CD-8534-01A-11D-2340-08	2768577	77906417	24624975	60	81492											
ZNF710	374655	broad.mit.edu	37	chr15	90610422	90610422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacgccgtggtggtgctgtCcttggctcaggccgccgtgc	17	13	1	0			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr15:90610422C>T	uc002bov.1	+	2	176	c.53C>T	c.(52-54)TCC>TTC	p.S18F		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GTGGTGCTGTCCTTGGCTCAG	0.632													T	90610422	C	T	90610422	3	4	150	1	0	0	0	0	1	0	0	0	18112	855	30	4	55	4	ZNF710	15	90610422	Missense_Mutation	SNP	C	TCGA-CD-8534-01A-11D-2340-08	12704005	90610422	11920970	61	81493											
ST8SIA2	8128	broad.mit.edu	37	chr15	92977597	92977597	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cataaccagacgctctctctGaggatcaggtactggtaatt	9	10	3	2			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr15:92977597G>A	uc002bra.2	+	3	437	c.282G>A	c.(280-282)CTG>CTA	p.L94L	ST8SIA2_uc002brb.2_Silent_p.L73L	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide	94	Lumenal (Potential).				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity				0	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CGCTCTCTCTGAGGATCAGGT	0.468													A	92977597	G	A	92977597	2	1	150	1	0	0	0	0	0	0	0	1	15231	1277	45	4		4	ST8SIA2	15	92977597	Silent	SNP	G	TCGA-CD-8534-01A-11D-2340-08	2367175	92977597	9553795	62	81494											
CACNA1H	8912	broad.mit.edu	37	chr16	1260449	1260449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcatcttcctcaactgcGtcaccatcgccctggagagg	8	15	5	1			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr16:1260449G>A	uc002cks.2	+	19	4173	c.3925G>A	c.(3925-3927)GTC>ATC	p.V1309I	CACNA1H_uc002ckt.2_Missense_Mutation_p.V1309I|CACNA1H_uc002cku.2_Missense_Mutation_p.V15I|CACNA1H_uc010brj.2_Missense_Mutation_p.V15I|CACNA1H_uc002ckv.2_Missense_Mutation_p.V15I	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1309	III.|Helical; Name=S1 of repeat III; (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CCTCAACTGCGTCACCATCGC	0.637													A	1260449	G	A	1260449	3	1	150	1	0	0	0	0	1	0	0	0	2545	1145	40	1	3995	1	CACNA1H	16	1260449	Missense_Mutation	SNP	G	TCGA-CD-8534-01A-11D-2340-08		1260449	89094304	63	81495											
KIAA0430	9665	broad.mit.edu	37	chr16	15718973	15718973	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggtacgaccagcctcaggtGaccttgctggtgctcactgt	13	12	2	1			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr16:15718973G>A	uc002ddr.2	-	9	2204	c.2011C>T	c.(2011-2013)CAC>TAC	p.H671Y	KIAA0430_uc002ddq.2_Missense_Mutation_p.H527Y|KIAA0430_uc010uzv.1_Missense_Mutation_p.H667Y|KIAA0430_uc010uzw.1_Missense_Mutation_p.H669Y	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	670						peroxisome	nucleotide binding|RNA binding				0						AGCCTCAGGTGACCTTGCTGG	0.507													A	15718973	G	A	15718973	3	1	150	1	0	0	0	0	1	0	0	0	8177	1290	45	4	3296	4	KIAA0430	16	15718973	Missense_Mutation	SNP	G	TCGA-CD-8534-01A-11D-2340-08	14458524	15718973	74635780	64	81496											
CDH5	1003	broad.mit.edu	37	chr16	66422264	66422264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacagcagtggatgcagaCgaccccactgtgggagacca	14	11	0	3	rs112611173		TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr16:66422264C>T	uc002eom.3	+	4	693	c.537C>T	c.(535-537)GAC>GAT	p.D179D	CDH5_uc002eon.1_Silent_p.D179D	NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	179	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		TGGATGCAGACGACCCCACTG	0.527													T	66422264	C	T	66422264	2	4	150	1	0	0	0	0	0	0	0	1	3113	535	19	1		1	CDH5	16	66422264	Silent	SNP	C	TCGA-CD-8534-01A-11D-2340-08	50703291	66422264	23932489	65	81497											
MAP2K4	6416	broad.mit.edu	37	chr17	12043162	12043162	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttatgttattttagccttacGaaggatgaatccaaaaggcc	8	7	0	1	rs55794822	by1000genomes	TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr17:12043162G>A	uc002gnj.2	+	10	1116	c.1047G>A	c.(1045-1047)ACG>ACA	p.T349T	MAP2K4_uc002gnk.2_Silent_p.T360T|MAP2K4_uc010vvi.1_Silent_p.T231T|MAP2K4_uc010vvj.1_Silent_p.T221T	NM_003010	NP_003001	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	349	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(2)		large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	58		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TTAGCCTTACGAAGGATGAAT	0.338			D|Mis|N		pancreatic|breast|colorectal								A	12043162	G	A	12043162	2	1	150	1	0	0	0	0	0	0	0	1	9239	1045	37	1		1	MAP2K4	17	12043162	Silent	SNP	G	TCGA-CD-8534-01A-11D-2340-08		12043162	69152048	66	81498											
TMEM132E	124842	broad.mit.edu	37	chr17	32961845	32961845	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggaaagcgaggatgaggaTgaggaggaggaggagcggcg	23	4	0	2			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr17:32961845T>G	uc002hif.2	+	8	1774	c.1446T>G	c.(1444-1446)GAT>GAG	p.D482E		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	482	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		AGGATGAGGATGAGGAGGAGG	0.617													G	32961845	T	G	32961845	3	3	150	1	0	0	0	0	1	0	0	0	16045	1461	51	5	1476	5	TMEM132E	17	32961845	Missense_Mutation	SNP	T	TCGA-CD-8534-01A-11D-2340-08	20918683	32961845	48233365	67	81499											
AOC3	8639	broad.mit.edu	37	chr17	41003597	41003598	+	Frame_Shift_Ins	INS	-	-	G													gctttctgacccagcggctgINSgggccagggctggtggatgc							TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	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													G	41003598	-	G	41003597	7	5	150	1	0	1	1	0	0	0	0	0	728	1335	47	0	239	0	AOC3	17	41003597	Frame_Shift_Ins	INS	-	TCGA-CD-8534-01A-11D-2340-08	8041752	41003597	40191613	68	81500											
UBTF	7343	broad.mit.edu	37	chr17	42287592	42287592	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatggctttcaaggccttcAcccggtcattctggggacca	10	14	4	0			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr17:42287592A>G	uc002igb.2	-	14	1593	c.1526T>C	c.(1525-1527)GTG>GCG	p.V509A	UBTF_uc002igc.2_Missense_Mutation_p.V472A|UBTF_uc010czs.2_Missense_Mutation_p.V509A|UBTF_uc002igd.2_Missense_Mutation_p.V472A|UBTF_uc010czt.2_Missense_Mutation_p.V509A|UBTF_uc002ige.2_Missense_Mutation_p.V472A	NM_014233	NP_055048	P17480	UBF1_HUMAN	upstream binding transcription factor, RNA	509	HMG box 5.				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CAAGGCCTTCACCCGGTCATT	0.522											OREG0024456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	42287592	A	G	42287592	3	3	150	1	0	0	0	0	1	0	0	0	16906	159	6	3	796	3	UBTF	17	42287592	Missense_Mutation	SNP	A	TCGA-CD-8534-01A-11D-2340-08	1283995	42287592	38907618	69	81501											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	150	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-CD-8534-01A-11D-2340-08	14098792	56386384	24808826	70	81502											
OR7A10	390892	broad.mit.edu	37	chr19	14952341	14952341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaccggtcataggccatcaCggtcagaaggaagttatcca	10	10	3	1			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr19:14952341C>T	uc002mzx.1	-	1	349	c.349G>A	c.(349-351)GTG>ATG	p.V117M		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)					TAGGCCATCACGGTCAGAAGG	0.483													T	14952341	C	T	14952341	3	4	150	1	0	0	0	0	1	0	0	0	11214	536	19	1	584	1	OR7A10	19	14952341	Missense_Mutation	SNP	C	TCGA-CD-8534-01A-11D-2340-08		14952341	44176642	71	81503											
ZFP82	284406	broad.mit.edu	37	chr19	36884862	36884862	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtctctcctgtccttcaAtttttcctgtggattcccaa	7	12	2	0			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr19:36884862A>G	uc002ody.1	-	5	615	c.380T>C	c.(379-381)ATT>ACT	p.I127T		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	zinc finger protein 82 homolog	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						CTGTCCTTCAATTTTTCCTGT	0.378													G	36884862	A	G	36884862	3	3	150	1	0	0	0	0	1	0	0	0	17650	101	4	3	1222	3	ZFP82	19	36884862	Missense_Mutation	SNP	A	TCGA-CD-8534-01A-11D-2340-08	21932521	36884862	22244121	72	81504											
CATSPERG	57828	broad.mit.edu	37	chr19	38861176	38861176	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctccctgcaggtgtcagctaGcgtgtttgtgggcctggtga	15	10	1	1			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr19:38861176G>C	uc002oih.3	+	29	3311	c.3224G>C	c.(3223-3225)AGC>ACC	p.S1075T	CATSPERG_uc002oig.3_Missense_Mutation_p.S1035T|CATSPERG_uc002oif.3_Missense_Mutation_p.S715T|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	1075	Helical; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						GTGTCAGCTAGCGTGTTTGTG	0.522													C	38861176	G	C	38861176	3	2	150	1	0	0	0	0	1	0	0	0	2692	971	34	5	3334	5	CATSPERG	19	38861176	Missense_Mutation	SNP	G	TCGA-CD-8534-01A-11D-2340-08	1976314	38861176	20267807	73	81505											
SPTBN4	57731	broad.mit.edu	37	chr19	41063215	41063215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcggaggcggctgccccGcctgaccaccccgcctgagc	14	18	0	2			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr19:41063215G>A	uc002ony.2	+	26	5662	c.5576G>A	c.(5575-5577)CGC>CAC	p.R1859H	SPTBN4_uc002onx.2_Missense_Mutation_p.R1859H|SPTBN4_uc002onz.2_Missense_Mutation_p.R1859H|SPTBN4_uc010egx.2_Missense_Mutation_p.R602H|SPTBN4_uc002ooa.2_Missense_Mutation_p.R535H	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1859	Spectrin 16.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGGCTGCCCCGCCTGACCACC	0.657													A	41063215	G	A	41063215	3	1	150	1	0	0	0	0	1	0	0	0	15120	1087	38	1	5674	1	SPTBN4	19	41063215	Missense_Mutation	SNP	G	TCGA-CD-8534-01A-11D-2340-08	2202039	41063215	18065768	74	81506											
LIG1	3978	broad.mit.edu	37	chr19	48647219	48647219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaccagatggatccagggGtctacggaggcaaaacggag	15	8	1	1			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr19:48647219G>A	uc002pia.1	-	10	898	c.778C>T	c.(778-780)CCC>TCC	p.P260S	LIG1_uc010xze.1_5'UTR|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.P192S|LIG1_uc010xzg.1_Missense_Mutation_p.P229S|LIG1_uc010xzh.1_RNA	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	260					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GGATCCAGGGGTCTACGGAGG	0.433								NER					A	48647219	G	A	48647219	3	1	150	1	0	0	0	0	1	0	0	0	8781	1275	44	4	2057	4	LIG1	19	48647219	Missense_Mutation	SNP	G	TCGA-CD-8534-01A-11D-2340-08	7584004	48647219	10481764	75	81507											
CEACAM18	729767	broad.mit.edu	37	chr19	51983739	51983739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggggtgcaaacgacagcGcaggaaacatgattatcagc	12	9	1	1			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr19:51983739G>A	uc002pwv.1	+	3	388	c.388G>A	c.(388-390)GCA>ACA	p.A130T		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion	130						integral to membrane				skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AAACGACAGCGCAGGAAACAT	0.562													A	51983739	G	A	51983739	3	1	150	1	0	0	0	0	1	0	0	0	3189	1087	38	1	398	1	CEACAM18	19	51983739	Missense_Mutation	SNP	G	TCGA-CD-8534-01A-11D-2340-08	3336520	51983739	7145244	76	81508											
IL11	3589	broad.mit.edu	37	chr19	55877404	55877404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcttcagcagcagcagtcCcctcacggcccagtcaagtg	10	15	4	0			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr19:55877404C>T	uc002qks.1	-	5	707	c.571G>A	c.(571-573)GGA>AGA	p.G191R	FAM71E2_uc002qkr.2_5'Flank|FAM71E2_uc002qkq.2_5'Flank|IL11_uc010yfx.1_Missense_Mutation_p.G112R	NM_000641	NP_000632	P20809	IL11_HUMAN	interleukin 11 precursor	191					B cell differentiation|fat cell differentiation|megakaryocyte differentiation|negative regulation of hormone secretion|platelet activation|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity|growth factor activity|interleukin-11 receptor binding				0	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	Oprelvekin(DB00038)	AGCAGCAGTCCCCTCACGGCC	0.542													T	55877404	C	T	55877404	3	4	150	1	0	0	0	0	1	0	0	0	7622	632	22	4	32	4	IL11	19	55877404	Missense_Mutation	SNP	C	TCGA-CD-8534-01A-11D-2340-08	3893665	55877404	3251579	77	81509											
TMEM190	147744	broad.mit.edu	37	chr19	55889178	55889178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccttgtccagaaaacgtgCggaggaagcacatgtgggcg	14	10	0	1	rs146395464		TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr19:55889178C>T	uc002qkt.1	+	4	247	c.229C>T	c.(229-231)CGG>TGG	p.R77W		NM_139172	NP_631911	Q8WZ59	TM190_HUMAN	transmembrane protein 190 precursor	77	Extracellular (Potential).					integral to membrane					0	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AGAAAACGTGCGGAGGAAGCA	0.677													T	55889178	C	T	55889178	3	4	150	1	0	0	0	0	1	0	0	0	16111	759	27	1	243	1	TMEM190	19	55889178	Missense_Mutation	SNP	C	TCGA-CD-8534-01A-11D-2340-08	11774	55889178	3239805	78	81510											
ZSCAN18	65982	broad.mit.edu	37	chr19	58600101	58600102	+	Frame_Shift_Ins	INS	-	-	GG													cagctccaagggcctggctgINSgggctcgcgagctcgcctgg							TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr19:58600100_58600101T>TGG	uc010yht.1	-	2	705_706	c.675_676A>CCA	c.(673-678)cccagcfs	p.P225fs	ZSCAN18_uc002qrj.3_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc010yhs.1_Frame_Shift_Ins_p.P34fs|ZSCAN18_uc002qrh.2_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc002qri.2_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc002qrk.1_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc002qrl.2_Frame_Shift_Ins_p.P169fs	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	169					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGGGCCTGGCTGGGGCTCGCGA	0.649													GG	58600102	-	GG	58600101	7	5	150	1	0	1	1	0	0	0	0	0	18227	1335	47	0	1045	0	ZSCAN18	19	58600101	Frame_Shift_Ins	INS	-	TCGA-CD-8534-01A-11D-2340-08	2710923	58600101	528882	79	81511											
ZSCAN18	65982	broad.mit.edu	37	chr19	58601554	58601554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcttcctgctggactccGgctgctgaccccggcgtggg	15	14	1	1	rs149865437	byFrequency	TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr19:58601554G>A	uc002qri.2	-	2	390	c.81C>T	c.(79-81)GCC>GCT	p.A27A	ZSCAN18_uc002qrj.3_Silent_p.A27A|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Silent_p.A27A|ZSCAN18_uc010yht.1_Silent_p.A83A|ZSCAN18_uc002qrk.1_Silent_p.A27A|ZSCAN18_uc002qrl.2_Silent_p.A27A	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	27					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCTGGACTCCGGCTGCTGACC	0.632													A	58601554	G	A	58601554	2	1	150	1	0	0	0	0	0	0	0	1	18227	1103	39	1		1	ZSCAN18	19	58601554	Silent	SNP	G	TCGA-CD-8534-01A-11D-2340-08	1453	58601554	527429	80	81512											
TOX2	84969	broad.mit.edu	37	chr20	42695404	42695404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctgagttccccagcagctCgggatcctgctcacctggcc	10	17	2	1	rs149010935		TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr20:42695404C>T	uc002xlf.3	+	7	1354	c.1337C>T	c.(1336-1338)TCG>TTG	p.S446L	TOX2_uc010ggo.2_Missense_Mutation_p.S464L|TOX2_uc002xle.3_Missense_Mutation_p.S422L|TOX2_uc010ggp.2_Missense_Mutation_p.S422L|TOX2_uc002xlg.2_Missense_Mutation_p.S263L|TOX2_uc010zwk.1_Missense_Mutation_p.S342L	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	446	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CCCAGCAGCTCGGGATCCTGC	0.632													T	42695404	C	T	42695404	3	4	150	1	0	0	0	0	1	0	0	0	16375	893	31	1	1551	1	TOX2	20	42695404	Missense_Mutation	SNP	C	TCGA-CD-8534-01A-11D-2340-08		42695404	20330116	81	81513											
DIDO1	11083	broad.mit.edu	37	chr20	61512983	61512983	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acatcctgttgggcaggtcaTcaacagtcactttcgcttct	8	12	4	0			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chr20:61512983T>A	uc002ydr.1	-	16	4589	c.4325A>T	c.(4324-4326)GAT>GTT	p.D1442V	DIDO1_uc002yds.1_Missense_Mutation_p.D1442V	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1442					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GGGCAGGTCATCAACAGTCAC	0.622													A	61512983	T	A	61512983	3	1	150	1	0	0	0	0	1	0	0	0	4522	1435	50	5	2401	5	DIDO1	20	61512983	Missense_Mutation	SNP	T	TCGA-CD-8534-01A-11D-2340-08	18817579	61512983	1512537	82	81514											
KDM6A	7403	broad.mit.edu	37	chrX	44942724	44942724	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtggaagttgcagctacatGagctgactaaacttcctgct	11	9	0	2			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chrX:44942724G>A	uc004dge.3	+	23	3679	c.3304G>A	c.(3304-3306)GAG>AAG	p.E1102K	KDM6A_uc011mkz.1_Missense_Mutation_p.E1154K|KDM6A_uc011mla.1_Missense_Mutation_p.E1057K|KDM6A_uc011mlb.1_Missense_Mutation_p.E1109K|KDM6A_uc011mlc.1_Missense_Mutation_p.E806K|KDM6A_uc011mld.1_Missense_Mutation_p.E741K	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	1102	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						GCAGCTACATGAGCTGACTAA	0.398			D|N|F|S		renal|oesophageal SCC|MM								A	44942724	G	A	44942724	3	1	150	1	0	0	0	0	1	0	0	0	8137	1291	45	4	3394	4	KDM6A	23	44942724	Missense_Mutation	SNP	G	TCGA-CD-8534-01A-11D-2340-08		44942724	110327836	83	81515											
DNASE1L1	1774	broad.mit.edu	37	chrX	153631879	153631879	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctaccattgctgggcaaagaGaactgggccacaaatggctc	11	11	0	1			TCGA-CD-8534-01A-11D-2340-08	TCGA-CD-8534-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0530d3ac-b94b-406c-8edf-9e0539358a3d	cb35c60a-d9cc-4eaa-ad47-fef2ef766697	g.chrX:153631879G>A	uc004fks.1	-	5	587	c.396C>T	c.(394-396)TTC>TTT	p.F132F	RPL10_uc004fkq.1_RNA|RPL10_uc004fkr.1_3'UTR|DNASE1L1_uc004fkt.1_Silent_p.F132F|DNASE1L1_uc004fku.1_Silent_p.F132F|DNASE1L1_uc004fkv.1_Silent_p.F132F|DNASE1L1_uc004fkw.1_Silent_p.F132F	NM_006730	NP_006721	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1 precursor	132					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGGCAAAGAGAACTGGGCCA	0.577													A	153631879	G	A	153631879	2	1	150	1	0	0	0	0	0	0	0	1	4661	933	33	4		4	DNASE1L1	23	153631879	Silent	SNP	G	TCGA-CD-8534-01A-11D-2340-08	108689155	153631879	1638681	84	81516											
H6PD	9563	broad.mit.edu	37	chr1	9322285	9322285	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcgctgcggggcctgcagAggggcagtgccgtcgtgggc	21	11	0	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr1:9322285A>C	uc001apt.2	+	4	1186	c.913A>C	c.(913-915)AGG>CGG	p.R305R		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	305	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding				0	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GGGCCTGCAGAGGGGCAGTGC	0.652													C	9322285	A	C	9322285	2	2	151	1	0	0	0	0	0	0	0	1	6936	295	11	5		5	H6PD	1	9322285	Silent	SNP	A	TCGA-CD-8535-01A-11D-2340-08		9322285	239928336	1	81517											
PRAMEF4	400735	broad.mit.edu	37	chr1	12939698	12939698	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcaagatggcgttgacTtgggagtctatgatgccaca	14	8	1	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr1:12939698T>G	uc001aun.2	-	4	1175	c.1104A>C	c.(1102-1104)CAA>CAC	p.Q368H		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	PRAME family member 4	368	LRR 5.									ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCGTTGACTTGGGAGTCTA	0.507													G	12939698	T	G	12939698	3	3	151	1	0	0	0	0	1	0	0	0	12437	1606	56	5	336	5	PRAMEF4	1	12939698	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	3617413	12939698	236310923	2	81518											
UBR4	23352	broad.mit.edu	37	chr1	19489100	19489100	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catgtgcactccaagatcatCacatgctgtaagagaagccc	8	12	2	2	rs145868131	by1000genomes	TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr1:19489100C>T	uc001bbi.2	-	35	4774	c.4770G>A	c.(4768-4770)GTG>GTA	p.V1590V	UBR4_uc001bbm.1_Silent_p.V801V	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1590					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCAAGATCATCACATGCTGTA	0.433													T	19489100	C	T	19489100	2	4	151	1	0	0	0	0	0	0	0	1	16901	813	29	4		4	UBR4	1	19489100	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08	6549402	19489100	229761521	3	81519											
MYOM3	127294	broad.mit.edu	37	chr1	24413270	24413270	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgaatctcggggatctcacAgggctttccgagctgatggc	14	11	2	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr1:24413270A>G	uc001bin.3	-	15	1825	c.1662T>C	c.(1660-1662)CCT>CCC	p.P554P	MYOM3_uc001bim.3_Silent_p.P211P|MYOM3_uc001bio.2_Silent_p.P554P|MYOM3_uc001bip.1_Silent_p.P211P	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	554	Fibronectin type-III 2.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGGATCTCACAGGGCTTTCCG	0.557													G	24413270	A	G	24413270	2	3	151	1	0	0	0	0	0	0	0	1	10093	175	7	3		3	MYOM3	1	24413270	Silent	SNP	A	TCGA-CD-8535-01A-11D-2340-08	4924170	24413270	224837351	4	81520											
COL16A1	1307	broad.mit.edu	37	chr1	32120438	32120438	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgatgaacctcttgatttCatcataattcaccatgtctc	4	11	6	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr1:32120438C>T	uc001btk.1	-	68	4677	c.4312G>A	c.(4312-4314)GAA>AAA	p.E1438K	COL16A1_uc001bti.1_Missense_Mutation_p.E52K|COL16A1_uc001btj.1_Missense_Mutation_p.E1236K	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	1438	Nonhelical region 2 (NC2).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTCTTGATTTCATCATAATTC	0.448													T	32120438	C	T	32120438	3	4	151	1	0	0	0	0	1	0	0	0	3673	835	29	4	518	4	COL16A1	1	32120438	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	7707168	32120438	217130183	5	81521											
PTPRF	5792	broad.mit.edu	37	chr1	44086848	44086848	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctacgagggcgtggtcgacaTgtttcagaccgtgaagaccc	13	11	1	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr1:44086848T>A	uc001cjr.2	+	33	5940	c.5600T>A	c.(5599-5601)ATG>AAG	p.M1867K	PTPRF_uc001cjs.2_Missense_Mutation_p.M1858K|PTPRF_uc001cju.2_Missense_Mutation_p.M1256K|PTPRF_uc009vwt.2_Missense_Mutation_p.M1427K|PTPRF_uc001cjv.2_Missense_Mutation_p.M1338K|PTPRF_uc001cjw.2_Missense_Mutation_p.M1093K	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1867	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGGTCGACATGTTTCAGACC	0.627													A	44086848	T	A	44086848	3	1	151	1	0	0	0	0	1	0	0	0	12801	1464	51	5	5722	5	PTPRF	1	44086848	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	11966410	44086848	205163773	6	81522											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507054	74507054	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagtgcgctcattatttaAgttttgaactaataaacgct	7	6	1	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr1:74507054A>C	uc001dfy.3	-	7	1753	c.1561T>G	c.(1561-1563)TTA>GTA	p.L521V	LRRIQ3_uc001dfz.3_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	521										ovary(2)	2						TCATTATTTAAGTTTTGAACT	0.368													C	74507054	A	C	74507054	3	2	151	1	0	0	0	0	1	0	0	0	9030	69	3	5	321	5	LRRIQ3	1	74507054	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	30420206	74507054	174743567	7	81523											
LPPR4	9890	broad.mit.edu	37	chr1	99772202	99772202	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccgtccactgaaggtgaagGcagtggctcctggaagtgga	15	10	0	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr1:99772202G>C	uc001dse.2	+	7	2034	c.1928G>C	c.(1927-1929)GGC>GCC	p.G643A	LPPR4_uc010oue.1_Missense_Mutation_p.G585A	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	643							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GAAGGTGAAGGCAGTGGCTCC	0.537													C	99772202	G	C	99772202	3	2	151	1	0	0	0	0	1	0	0	0	8927	1203	42	5	1954	5	LPPR4	1	99772202	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	25265148	99772202	149478419	8	81524											
FLG2	388698	broad.mit.edu	37	chr1	152327439	152327439	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatccaaaagtctgtcctgaActtgacccatgttgaccata	6	11	1	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr1:152327439A>C	uc001ezw.3	-	3	2896	c.2823T>G	c.(2821-2823)AGT>AGG	p.S941R	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	941	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGTCCTGAACTTGACCCAT	0.493													C	152327439	A	C	152327439	3	2	151	1	0	0	0	0	1	0	0	0	5923	40	2	5	4356	5	FLG2	1	152327439	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	52555237	152327439	96923182	9	81525											
CD1C	911	broad.mit.edu	37	chr1	158259869	158259869	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgacatgctgtttctgcaGtttctgctgctagctcttct	8	10	4	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr1:158259869G>A	uc001fru.2	+	1	307	c.15G>A	c.(13-15)CAG>CAA	p.Q5Q	CD1C_uc001frv.2_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	5					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					TGTTTCTGCAGTTTCTGCTGC	0.448													A	158259869	G	A	158259869	2	1	151	1	0	0	0	0	0	0	0	1	2976	1020	36	4		4	CD1C	1	158259869	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	5932430	158259869	90990752	10	81526											
CD1B	910	broad.mit.edu	37	chr1	158298772	158298772	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caaggaaggcactattattgCcaaaacaattgagccaatgg	9	8	0	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr1:158298772C>G	uc001frx.2	-	5	1027	c.919G>C	c.(919-921)GCA>CCA	p.A307P	CD1B_uc001frw.2_Missense_Mutation_p.A145P	NM_001764	NP_001755	P29016	CD1B_HUMAN	CD1B antigen precursor	307	Helical; (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			ovary(2)	2	all_hematologic(112;0.0378)					ACTATTATTGCCAAAACAATT	0.428													G	158298772	C	G	158298772	3	3	151	1	0	0	0	0	1	0	0	0	2975	739	26	5	90	5	CD1B	1	158298772	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	38903	158298772	90951849	11	81527											
OR6Y1	391112	broad.mit.edu	37	chr1	158517014	158517014	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggttcctcagacagtaAatgatggggttgaggagtgg	15	5	2	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr1:158517014A>C	uc010pil.1	-	1	882	c.882T>G	c.(880-882)ATT>ATG	p.I294M		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	294	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TCAGACAGTAAATGATGGGGT	0.453													C	158517014	A	C	158517014	3	2	151	1	0	0	0	0	1	0	0	0	11213	10	1	5	97	5	OR6Y1	1	158517014	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	218242	158517014	90733607	12	81528											
OR10J3	441911	broad.mit.edu	37	chr1	159283665	159283665	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaactctgggacttaggcTtcaggtagatgatggaggca	16	6	2	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr1:159283665T>G	uc010piu.1	-	1	785	c.785A>C	c.(784-786)AAG>ACG	p.K262T		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)					GGACTTAGGCTTCAGGTAGAT	0.532													G	159283665	T	G	159283665	3	3	151	1	0	0	0	0	1	0	0	0	10911	1609	56	5	206	5	OR10J3	1	159283665	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	766651	159283665	89966956	13	81529											
OR10J3	441911	broad.mit.edu	37	chr1	159284373	159284373	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagacaacaaagaagacaAgtttgtgctgccgcctgaag	12	8	0	4			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr1:159284373A>C	uc010piu.1	-	1	77	c.77T>G	c.(76-78)CTT>CGT	p.L26R		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	26	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)					AAAGAAGACAAGTTTGTGCTG	0.448													C	159284373	A	C	159284373	3	2	151	1	0	0	0	0	1	0	0	0	10911	72	3	5	914	5	OR10J3	1	159284373	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	708	159284373	89966248	14	81530											
OLFML2B	25903	broad.mit.edu	37	chr1	161987209	161987209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcctccagtttatccactCgccccaccagtttggtggtg	8	16	0	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr1:161987209C>T	uc001gbu.2	-	3	951	c.527G>A	c.(526-528)CGA>CAA	p.R176Q	OLFML2B_uc010pkq.1_Missense_Mutation_p.R176Q	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	176										skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TTTATCCACTCGCCCCACCAG	0.438													T	161987209	C	T	161987209	3	4	151	1	0	0	0	0	1	0	0	0	10858	884	31	1	1749	1	OLFML2B	1	161987209	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	2702836	161987209	87263412	15	81531											
DDR2	4921	broad.mit.edu	37	chr1	162741933	162741933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacacatactcagtgcctGccgtcaccatggacctgctc	8	16	2	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr1:162741933G>A	uc001gcf.2	+	14	2089	c.1624G>A	c.(1624-1626)GCC>ACC	p.A542T	DDR2_uc001gcg.2_Missense_Mutation_p.A542T	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	542	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CTCAGTGCCTGCCGTCACCAT	0.562													A	162741933	G	A	162741933	3	1	151	1	0	0	0	0	1	0	0	0	4337	1319	46	2	1666	2	DDR2	1	162741933	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	754724	162741933	86508688	16	81532											
SELP	6403	broad.mit.edu	37	chr1	169562867	169562867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctgaaacgctttcttaGcaaagccaggagcgtcccac	9	12	2	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr1:169562867G>A	uc001ggi.3	-	14	2448	c.2383C>T	c.(2383-2385)CTA>TTA	p.L795L	SELP_uc001ggh.2_Intron|SELP_uc009wvr.2_Silent_p.L794L	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	795	Helical; (Potential).				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CGCTTTCTTAGCAAAGCCAGG	0.423													A	169562867	G	A	169562867	2	1	151	1	0	0	0	0	0	0	0	1	14019	962	34	2		2	SELP	1	169562867	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	6820934	169562867	79687754	17	81533											
TNN	63923	broad.mit.edu	37	chr1	175046771	175046771	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgacgatggggcttcgctcTtggccctgggggaggccagg	19	10	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr1:175046771T>C	uc001gkl.1	+	2	330	c.217T>C	c.(217-219)TTG>CTG	p.L73L	TNN_uc010pmx.1_Silent_p.L73L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	73					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGCTTCGCTCTTGGCCCTGGG	0.592													C	175046771	T	C	175046771	2	2	151	1	0	0	0	0	0	0	0	1	16320	1606	56	3		3	TNN	1	175046771	Silent	SNP	T	TCGA-CD-8535-01A-11D-2340-08	5483904	175046771	74203850	18	81534											
PAPPA2	60676	broad.mit.edu	37	chr1	176681096	176681096	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaggtagcctgaagaaAgaggatgaggtttggctcaa	14	6	1	5			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr1:176681096A>G	uc001gkz.2	+	12	4941	c.3777A>G	c.(3775-3777)AAA>AAG	p.K1259K	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1259					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						GCCTGAAGAAAGAGGATGAGG	0.398													G	176681096	A	G	176681096	2	3	151	1	0	0	0	0	0	0	0	1	11433	69	3	3		3	PAPPA2	1	176681096	Silent	SNP	A	TCGA-CD-8535-01A-11D-2340-08	1634325	176681096	72569525	19	81535											
KCNT2	343450	broad.mit.edu	37	chr1	196227371	196227371	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttcattctatttttcacaAgttcagcaagctcttgtctt	5	9	6	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr1:196227371A>G	uc001gtd.1	-	26	3224	c.3164T>C	c.(3163-3165)CTT>CCT	p.L1055P	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.L988P|KCNT2_uc001gtf.1_Missense_Mutation_p.L1031P|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Missense_Mutation_p.L559P	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1055	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						ATTTTTCACAAGTTCAGCAAG	0.403													G	196227371	A	G	196227371	3	3	151	1	0	0	0	0	1	0	0	0	8092	72	3	3	255	3	KCNT2	1	196227371	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	19546275	196227371	53023250	20	81536											
KCNT2	343450	broad.mit.edu	37	chr1	196250004	196250004	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaaacctcagatgtagtaaGtttctgagactcagtcctgt	8	10	3	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr1:196250004G>T	uc001gtd.1	-	25	2956	c.2896C>A	c.(2896-2898)CTT>ATT	p.L966I	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.L892I|KCNT2_uc001gtf.1_Missense_Mutation_p.L942I|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.L942I|KCNT2_uc001gth.1_Missense_Mutation_p.L463I	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	966	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						GATGTAGTAAGTTTCTGAGAC	0.328													T	196250004	G	T	196250004	3	4	151	1	0	0	0	0	1	0	0	0	8092	1029	36	5	527	5	KCNT2	1	196250004	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	22633	196250004	53000617	21	81537											
FMOD	2331	broad.mit.edu	37	chr1	203317143	203317143	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtacatggccgtggggaAgttgggtgggcagtcgcact	17	8	0	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr1:203317143A>G	uc001gzr.2	-	2	392	c.256T>C	c.(256-258)TTC>CTC	p.F86L	FMOD_uc010pqi.1_RNA	NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	86	Cys-rich.|LRRNT.				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.171)			GCCGTGGGGAAGTTGGGTGGG	0.587													G	203317143	A	G	203317143	3	3	151	1	0	0	0	0	1	0	0	0	5959	72	3	3	882	3	FMOD	1	203317143	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	7067139	203317143	45933478	22	81538											
PCNXL2	80003	broad.mit.edu	37	chr1	233344423	233344423	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtctgctatatgttatgaTttggttgtgtccctagaaaa	10	5	1	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr1:233344423T>G	uc001hvl.2	-	13	2939	c.2704A>C	c.(2704-2706)ATC>CTC	p.I902L	PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA|PCNXL2_uc001hvq.1_Missense_Mutation_p.I201L	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	902	Helical; (Potential).					integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				TATGTTATGATTTGGTTGTGT	0.368													G	233344423	T	G	233344423	3	3	151	1	0	0	0	0	1	0	0	0	11592	1493	52	5	3797	5	PCNXL2	1	233344423	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	30027280	233344423	15906198	23	81539											
RYR2	6262	broad.mit.edu	37	chr1	237608821	237608821	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccttttcaatagatttataAggtactttttcttttgtagg	6	5	2	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr1:237608821A>T	uc001hyl.1	+	14	1411	c.1291A>T	c.(1291-1293)AGG>TGG	p.R431W		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	431	Cytoplasmic (By similarity).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAGATTTATAAGGTACTTTTT	0.363													T	237608821	A	T	237608821	3	4	151	1	0	0	0	0	1	0	0	0	13769	86	3	5	1345	5	RYR2	1	237608821	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	4264398	237608821	11641800	24	81540											
NBAS	51594	broad.mit.edu	37	chr2	15307367	15307367	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcaacaatacgtggatagaaGggagtggagacacacttcac	11	8	2	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr2:15307367G>C	uc002rcc.1	-	52	6947	c.6921C>G	c.(6919-6921)CCC>CCG	p.P2307P	NBAS_uc002rcb.1_Silent_p.P147P|NBAS_uc010exl.1_Silent_p.P1379P|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	2307										ovary(2)|liver(1)|skin(1)	4						GTGGATAGAAGGGAGTGGAGA	0.547													C	15307367	G	C	15307367	2	2	151	1	0	0	0	0	0	0	0	1	10186	987	35	5		5	NBAS	2	15307367	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08		15307367	227892006	25	81541											
TTC27	55622	broad.mit.edu	37	chr2	33036126	33036126	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcagggcagtgattgatggGatgactgatcgaagtggaga	17	4	1	5			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr2:33036126G>A	uc002rom.2	+	17	2265	c.2034G>A	c.(2032-2034)GGG>GGA	p.G678G	TTC27_uc010ymx.1_Silent_p.G628G|TTC27_uc002ron.2_RNA	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	678							protein binding			central_nervous_system(1)	1						TGATTGATGGGATGACTGATC	0.398													A	33036126	G	A	33036126	2	1	151	1	0	0	0	0	0	0	0	1	16692	1161	41	4		4	TTC27	2	33036126	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	17728759	33036126	210163247	26	81542											
SLC8A1	6546	broad.mit.edu	37	chr2	40657171	40657171	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaaacatgtagaccatggCcacaaaatacacagtagctc	7	10	0	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr2:40657171C>A	uc002rrx.2	-	1	274	c.250G>T	c.(250-252)GCC>TCC	p.A84S	SLC8A1_uc002rry.2_Missense_Mutation_p.A84S|SLC8A1_uc002rrz.2_Missense_Mutation_p.A84S|SLC8A1_uc002rsa.2_Missense_Mutation_p.A84S|SLC8A1_uc002rsd.3_Missense_Mutation_p.A84S|SLC8A1_uc002rsb.1_Missense_Mutation_p.A84S|SLC8A1_uc010fan.1_Missense_Mutation_p.A84S|SLC8A1_uc002rsc.1_Missense_Mutation_p.A84S	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	84	Helical; (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TAGACCATGGCCACAAAATAC	0.398													A	40657171	C	A	40657171	3	1	151	1	0	0	0	0	1	0	0	0	14706	739	26	5	2819	5	SLC8A1	2	40657171	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	7621045	40657171	202542202	27	81543											
REG3G	130120	broad.mit.edu	37	chr2	79255359	79255359	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagtggaaagattataActgtgatgcaaagttaccct	9	6	1	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr2:79255359A>C	uc002snw.2	+	6	570	c.485A>C	c.(484-486)AAC>ACC	p.N162T	REG3G_uc002snx.2_Missense_Mutation_p.N162T|REG3G_uc010ffu.2_Missense_Mutation_p.N116T	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma precursor	162	C-type lectin.				acute-phase response	extracellular region	sugar binding				0						AAAGATTATAACTGTGATGCA	0.493													C	79255359	A	C	79255359	3	2	151	1	0	0	0	0	1	0	0	0	13213	43	2	5	503	5	REG3G	2	79255359	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	38598188	79255359	163944014	28	81544											
LYG2	254773	broad.mit.edu	37	chr2	99860569	99860569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctctttgctatcccagGcaccgacagggtggtacgtt	13	11	1	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr2:99860569G>A	uc002szw.1	-	5	526	c.413C>T	c.(412-414)GCC>GTC	p.A138V	MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Missense_Mutation_p.A138V|LYG2_uc002szx.1_Missense_Mutation_p.A138V	NM_175735	NP_783862	Q86SG7	LYG2_HUMAN	lysozyme G-like 2 precursor	138					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			ovary(1)	1						GCTATCCCAGGCACCGACAGG	0.428													A	99860569	G	A	99860569	3	1	151	1	0	0	0	0	1	0	0	0	9105	1203	42	2	233	2	LYG2	2	99860569	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	20605210	99860569	143338804	29	81545											
AFF3	3899	broad.mit.edu	37	chr2	100368730	100368730	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttccactttgccaggtgcttGaatagcagaaagtggtggaa	12	7	0	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr2:100368730G>A	uc002tag.2	-	8	1191	c.955C>T	c.(955-957)CAA>TAA	p.Q319*	AFF3_uc002taf.2_Nonsense_Mutation_p.Q344*|AFF3_uc010fiq.1_Nonsense_Mutation_p.Q319*|AFF3_uc010yvr.1_Nonsense_Mutation_p.Q473*|AFF3_uc002tah.1_Nonsense_Mutation_p.Q344*|AFF3_uc010fir.1_Nonsense_Mutation_p.Q396*	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	319					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						CCAGGTGCTTGAATAGCAGAA	0.408													A	100368730	G	A	100368730	4	1	151	1	0	0	0	0	0	1	0	0	358	1299	45	4	2793	4	AFF3	2	100368730	Nonsense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	508161	100368730	142830643	30	81546											
RANBP2	5903	broad.mit.edu	37	chr2	109347834	109347834	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttgaagattgcagaattGctttgtaaaaatgatgttac	10	3	0	4			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr2:109347834G>A	uc002tem.3	+	4	435	c.309G>A	c.(307-309)TTG>TTA	p.L103L		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	103					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TTGCAGAATTGCTTTGTAAAA	0.323													A	109347834	G	A	109347834	2	1	151	1	0	0	0	0	0	0	0	1	13028	1310	46	2		2	RANBP2	2	109347834	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	8979104	109347834	133851539	31	81547											
RANBP2	5903	broad.mit.edu	37	chr2	109356991	109356991	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatctttgggtggaaatgatGaactgtcagctactttctta	9	6	3	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr2:109356991G>A	uc002tem.3	+	7	955	c.829G>A	c.(829-831)GAA>AAA	p.E277K		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	277					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TGGAAATGATGAACTGTCAGC	0.363													A	109356991	G	A	109356991	3	1	151	1	0	0	0	0	1	0	0	0	13028	1291	45	4	855	4	RANBP2	2	109356991	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	9157	109356991	133842382	32	81548											
MCM6	4175	broad.mit.edu	37	chr2	136626249	136626249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcctgttggcacaaactgGatttcggcagatgtttggct	11	10	0	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr2:136626249G>A	uc002tuw.2	-	4	623	c.547C>T	c.(547-549)CCA>TCA	p.P183S		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	183					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GCACAAACTGGATTTCGGCAG	0.393													A	136626249	G	A	136626249	3	1	151	1	0	0	0	0	1	0	0	0	9391	1174	41	4	1974	4	MCM6	2	136626249	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	27269258	136626249	106573124	33	81549											
THSD7B	80731	broad.mit.edu	37	chr2	138320844	138320844	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcagtattcctgggttgtAgaacactggtcttcatgcaa	9	8	3	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr2:138320844A>G	uc002tva.1	+	15	3105	c.3105A>G	c.(3103-3105)GTA>GTG	p.V1035V	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTGGGTTGTAGAACACTGGT	0.433													G	138320844	A	G	138320844	2	3	151	1	0	0	0	0	0	0	0	1	15877	407	15	3		3	THSD7B	2	138320844	Silent	SNP	A	TCGA-CD-8535-01A-11D-2340-08	1694595	138320844	104878529	34	81550											
LRP1B	53353	broad.mit.edu	37	chr2	141598520	141598520	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctgcaagacactgtggcTtatcgattccatggataatt	10	8	0	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr2:141598520T>G	uc002tvj.1	-	30	6053	c.5081A>C	c.(5080-5082)AAG>ACG	p.K1694T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1694	Extracellular (Potential).|LDL-receptor class B 15.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACACTGTGGCTTATCGATTCC	0.353										TSP Lung(27;0.18)			G	141598520	T	G	141598520	3	3	151	1	0	0	0	0	1	0	0	0	8955	1609	56	5	8966	5	LRP1B	2	141598520	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	3277676	141598520	101600853	35	81551											
SCN2A	6326	broad.mit.edu	37	chr2	166210751	166210751	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagttccttcagttctgacaAtcttgctgccactgatgatg	9	10	3	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr2:166210751A>C	uc002udc.2	+	17	3259	c.2969A>C	c.(2968-2970)AAT>ACT	p.N990T	SCN2A_uc002udd.2_Missense_Mutation_p.N990T|SCN2A_uc002ude.2_Missense_Mutation_p.N990T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	990	II.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	AGTTCTGACAATCTTGCTGCC	0.383													C	166210751	A	C	166210751	3	2	151	1	0	0	0	0	1	0	0	0	13916	101	4	5	3127	5	SCN2A	2	166210751	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	24612231	166210751	76988622	36	81552											
CSRNP3	80034	broad.mit.edu	37	chr2	166535567	166535567	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgggagcagcttttgcagCggagtcacagattctagcac	13	9	2	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr2:166535567C>T	uc002udf.2	+	7	1438	c.1062C>T	c.(1060-1062)AGC>AGT	p.S354S	CSRNP3_uc002udg.2_Silent_p.S354S	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	354	Glu-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						GCTTTTGCAGCGGAGTCACAG	0.438													T	166535567	C	T	166535567	2	4	151	1	0	0	0	0	0	0	0	1	3965	767	27	1		1	CSRNP3	2	166535567	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08	324816	166535567	76663806	37	81553											
TTN	7273	broad.mit.edu	37	chr2	179431873	179431873	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagtccaggcaagtcgactgGtttctcgcttttcaacaaca	8	12	2	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr2:179431873G>C	uc010zfg.1	-	275	71506	c.71282C>G	c.(71281-71283)ACC>AGC	p.T23761S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T17456S|TTN_uc010zfi.1_Missense_Mutation_p.T17389S|TTN_uc010zfj.1_Missense_Mutation_p.T17264S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24688							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTCGACTGGTTTCTCGCTT	0.403													C	179431873	G	C	179431873	3	2	151	1	0	0	0	0	1	0	0	0	16732	1261	44	5	29141	5	TTN	2	179431873	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	12896306	179431873	63767500	38	81554											
TTN	7273	broad.mit.edu	37	chr2	179498022	179498022	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacaaacacctctactccGtacagaggcttttccacttt	4	15	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr2:179498022G>A	uc010zfg.1	-	182	35498	c.35274C>T	c.(35272-35274)TAC>TAT	p.Y11758Y	TTN_uc010zfh.1_Silent_p.Y5453Y|TTN_uc010zfi.1_Silent_p.Y5386Y|TTN_uc010zfj.1_Silent_p.Y5261Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12685							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCTACTCCGTACAGAGGCT	0.408													A	179498022	G	A	179498022	2	1	151	1	0	0	0	0	0	0	0	1	16732	1140	40	1		1	TTN	2	179498022	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	66149	179498022	63701351	39	81555											
TTN	7273	broad.mit.edu	37	chr2	179560121	179560121	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtactttggctggaacTtttctctcatgtgattctga	9	8	4	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr2:179560121T>A	uc010zfg.1	-	112	27716	c.27492A>T	c.(27490-27492)AAA>AAT	p.K9164N	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K5825N|TTN_uc010fre.1_Missense_Mutation_p.K275N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10091							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCTGGAACTTTTCTCTCAT	0.343													A	179560121	T	A	179560121	3	1	151	1	0	0	0	0	1	0	0	0	16732	1606	56	5	73297	5	TTN	2	179560121	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	62099	179560121	63639252	40	81556											
TTN	7273	broad.mit.edu	37	chr2	179593353	179593353	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccacgttattttcaaaacTcattgaaaagtatctactgg	7	8	3	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr2:179593353T>C	uc010zfg.1	-	63	15792	c.15568A>G	c.(15568-15570)AGT>GGT	p.S5190G	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S1851G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6117							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCAAAACTCATTGAAAAG	0.418													C	179593353	T	C	179593353	3	2	151	1	0	0	0	0	1	0	0	0	16732	1551	54	3	85417	3	TTN	2	179593353	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	33232	179593353	63606020	41	81557											
KCTD18	130535	broad.mit.edu	37	chr2	201363767	201363767	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacccaaactgttggtttaTtgcagactaagccatatgaa	8	8	0	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr2:201363767T>C	uc002uvs.2	-	4	930	c.413A>G	c.(412-414)AAT>AGT	p.N138S	KCTD18_uc002uvt.2_Missense_Mutation_p.N138S|KCTD18_uc002uvu.1_Missense_Mutation_p.N138S	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain	138						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1						TGTTGGTTTATTGCAGACTAA	0.323													C	201363767	T	C	201363767	3	2	151	1	0	0	0	0	1	0	0	0	8105	1493	52	3	883	3	KCTD18	2	201363767	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	21770414	201363767	41835606	42	81558											
INO80D	54891	broad.mit.edu	37	chr2	206927685	206927685	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcacagtttggggctatatGagcacaagggcttattgtca	12	7	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr2:206927685G>A	uc002vaz.3	-	3	461	c.56C>T	c.(55-57)TCA>TTA	p.S19L		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	19					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						GGGGCTATATGAGCACAAGGG	0.478													A	206927685	G	A	206927685	3	1	151	1	0	0	0	0	1	0	0	0	7749	1294	45	4	3063	4	INO80D	2	206927685	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	5563918	206927685	36271688	43	81559											
MAP2	4133	broad.mit.edu	37	chr2	210574735	210574735	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccccaccaagttattcTtcacgcacaccaggcactcc	6	18	2	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr2:210574735T>A	uc002vde.1	+	12	5078	c.4830T>A	c.(4828-4830)TCT>TCA	p.S1610S	MAP2_uc002vdd.1_Silent_p.S311S|MAP2_uc002vdf.1_Silent_p.S254S|MAP2_uc002vdg.1_Silent_p.S254S|MAP2_uc002vdh.1_Silent_p.S311S|MAP2_uc002vdi.1_Silent_p.S1606S	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1610					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CAAGTTATTCTTCACGCACAC	0.582													A	210574735	T	A	210574735	2	1	151	1	0	0	0	0	0	0	0	1	9235	1596	56	5		5	MAP2	2	210574735	Silent	SNP	T	TCGA-CD-8535-01A-11D-2340-08	3647050	210574735	32624638	44	81560											
CPS1	1373	broad.mit.edu	37	chr2	211465397	211465397	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttcagataaactaaatgaGatcaatgaaaagattgctcc	6	6	2	4			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr2:211465397G>A	uc002vee.3	+	15	1800	c.1668G>A	c.(1666-1668)GAG>GAA	p.E556E	CPS1_uc010fur.2_Silent_p.E562E|CPS1_uc010fus.2_Silent_p.E105E	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	556	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AACTAAATGAGATCAATGAAA	0.413													A	211465397	G	A	211465397	2	1	151	1	0	0	0	0	0	0	0	1	3823	933	33	4		4	CPS1	2	211465397	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	890662	211465397	31733976	45	81561											
UGT1A5	54579	broad.mit.edu	37	chr2	234681146	234681146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgttgtgcttatggctacCggaaatgcttggggaaaaaa	12	5	0	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr2:234681146C>T	uc002vuw.2	+	5	1546	c.1546C>T	c.(1546-1548)CGG>TGG	p.R516W	UGT1A8_uc002vup.2_Missense_Mutation_p.R512W|UGT1A10_uc002vur.2_Missense_Mutation_p.R512W|UGT1A9_uc002vus.2_Missense_Mutation_p.R512W|UGT1A7_uc002vut.2_Missense_Mutation_p.R512W|UGT1A6_uc002vuu.2_Missense_Mutation_p.R247W|UGT1A6_uc002vuv.3_Missense_Mutation_p.R514W|UGT1A4_uc002vux.2_Missense_Mutation_p.R516W|UGT1A3_uc002vuy.2_Missense_Mutation_p.R516W|UGT1A9_uc002vva.2_RNA|UGT1A1_uc002vvb.2_Missense_Mutation_p.R515W	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	516					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TTATGGCTACCGGAAATGCTT	0.468													T	234681146	C	T	234681146	3	4	151	1	0	0	0	0	1	0	0	0	16945	643	23	1	1564	1	UGT1A5	2	234681146	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	23215749	234681146	8518227	46	81562											
GRM7	2917	broad.mit.edu	37	chr3	6903438	6903438	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcgaacagtcgcttacTttcgtccaggcgctcatcca	9	15	1	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr3:6903438T>C	uc003bqm.2	+	1	637	c.363T>C	c.(361-363)ACT>ACC	p.T121T	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.T121T|GRM7_uc003bql.2_Silent_p.T121T	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	121	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	AGTCGCTTACTTTCGTCCAGG	0.582													C	6903438	T	C	6903438	2	2	151	1	0	0	0	0	0	0	0	1	6802	1596	56	3		3	GRM7	3	6903438	Silent	SNP	T	TCGA-CD-8535-01A-11D-2340-08		6903438	191118992	47	81563											
NISCH	11188	broad.mit.edu	37	chr3	52521668	52521668	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgatccatgtgcagggCagtatccgccagttcgccgc	11	14	0	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr3:52521668C>T	uc011beg.1	+	17	2232	c.2160C>T	c.(2158-2160)GGC>GGT	p.G720G	NISCH_uc003ded.3_Silent_p.G720G|NISCH_uc003dee.3_Silent_p.G209G|NISCH_uc003deg.1_RNA	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	720	Interaction with LIMK (By similarity).|Interaction with ITGA5 (By similarity).|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		ATGTGCAGGGCAGTATCCGCC	0.642													T	52521668	C	T	52521668	2	4	151	1	0	0	0	0	0	0	0	1	10432	697	25	2		2	NISCH	3	52521668	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08	45618230	52521668	145500762	48	81564											
EPHA3	2042	broad.mit.edu	37	chr3	89468410	89468410	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccttcaaaaaaagagatTtcagtggccattaagaccct	6	10	2	2	rs138119313		TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr3:89468410T>C	uc003dqy.2	+	11	2169	c.1944T>C	c.(1942-1944)ATT>ATC	p.I648I	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	648	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AAAAAGAGATTTCAGTGGCCA	0.413										TSP Lung(6;0.00050)			C	89468410	T	C	89468410	2	2	151	1	0	0	0	0	0	0	0	1	5168	1829	64	3		3	EPHA3	3	89468410	Silent	SNP	T	TCGA-CD-8535-01A-11D-2340-08	36946742	89468410	108554020	49	81565											
LNP1	348801	broad.mit.edu	37	chr3	100170656	100170656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgccgtagccacgtacggGattacagaaaatactcagag	11	9	1	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr3:100170656G>A	uc003dtx.3	+	3	1530	c.250G>A	c.(250-252)GAT>AAT	p.D84N	LNP1_uc003dty.3_RNA|LNP1_uc011bhb.1_RNA	NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	84											0						CCACGTACGGGATTACAGAAA	0.448													A	100170656	G	A	100170656	3	1	151	1	0	0	0	0	1	0	0	0	8863	1174	41	4	256	4	LNP1	3	100170656	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	10702246	100170656	97851774	50	81566											
CD200R1L	344807	broad.mit.edu	37	chr3	112548191	112548191	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcaaaaattgttgaatagttCtgtgtcatctgctttccacc	7	9	3	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr3:112548191C>A	uc003dzi.1	-	2	313	c.87G>T	c.(85-87)CAG>CAT	p.Q29H	CD200R1L_uc011bhw.1_Missense_Mutation_p.Q8H|CD200R1L_uc010hqf.1_Missense_Mutation_p.Q8H	NM_001008784	NP_001008784	Q6Q8B3	MO2R2_HUMAN	CD200 cell surface glycoprotein receptor 2	29	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)	1						TTGAATAGTTCTGTGTCATCT	0.383													A	112548191	C	A	112548191	3	1	151	1	0	0	0	0	1	0	0	0	2982	912	32	5	748	5	CD200R1L	3	112548191	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	12377535	112548191	85474239	51	81567											
CASR	846	broad.mit.edu	37	chr3	121981057	121981057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caacagctcgacagccttccGacccctctgtacaggggatg	10	15	1	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr3:121981057G>A	uc003eev.3	+	4	1547	c.1175G>A	c.(1174-1176)CGA>CAA	p.R392Q	CASR_uc003eew.3_Missense_Mutation_p.R392Q	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	392	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACAGCCTTCCGACCCCTCTGT	0.493													A	121981057	G	A	121981057	3	1	151	1	0	0	0	0	1	0	0	0	2682	1058	37	1	1185	1	CASR	3	121981057	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	9432866	121981057	76041373	52	81568											
P2RY13	53829	broad.mit.edu	37	chr3	151046346	151046346	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaacaaaaagaaccagatGaagattgagaccgtttttgc	9	6	0	6			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr3:151046346G>A	uc003eyv.2	-	2	519	c.498C>T	c.(496-498)TTC>TTT	p.F166F	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	166	Helical; Name=4; (Potential).					integral to membrane|plasma membrane				ovary(3)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			AGAACCAGATGAAGATTGAGA	0.398													A	151046346	G	A	151046346	2	1	151	1	0	0	0	0	0	0	0	1	11350	1281	45	4		4	P2RY13	3	151046346	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	29065289	151046346	46976084	53	81569											
GHSR	2693	broad.mit.edu	37	chr3	172165990	172165990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtggtgcgcagctcgcGgaagcgcgacaccaccagca	16	13	0	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr3:172165990G>A	uc003fib.1	-	1	214	c.214C>T	c.(214-216)CGC>TGC	p.R72C	GHSR_uc011bpv.1_Missense_Mutation_p.R72C	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	72	Cytoplasmic (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			lung(3)|ovary(1)|central_nervous_system(1)	5	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CGCAGCTCGCGGAAGCGCGAC	0.662													A	172165990	G	A	172165990	3	1	151	1	0	0	0	0	1	0	0	0	6375	1116	39	1	968	1	GHSR	3	172165990	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	21119644	172165990	25856440	54	81570											
NLGN1	22871	broad.mit.edu	37	chr3	173997382	173997382	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttccttgcaatttctccaaaAatgatgtgatgctgagtgca	8	8	1	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr3:173997382A>T	uc003fio.1	+	6	2014	c.1591A>T	c.(1591-1593)AAT>TAT	p.N531Y	NLGN1_uc010hww.1_Missense_Mutation_p.N571Y|NLGN1_uc003fip.1_Missense_Mutation_p.N531Y	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	548	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTTCTCCAAAAATGATGTGAT	0.403													T	173997382	A	T	173997382	3	4	151	1	0	0	0	0	1	0	0	0	10461	14	1	5	1605	5	NLGN1	3	173997382	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	1831392	173997382	24025048	55	81571											
NAALADL2	254827	broad.mit.edu	37	chr3	174814991	174814991	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtacatacaaattgcccttCagatgctccatcttcaggaa	6	11	3	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr3:174814991C>T	uc003fit.2	+	2	542	c.455C>T	c.(454-456)TCA>TTA	p.S152L	NAALADL2_uc003fiu.1_Missense_Mutation_p.S145L	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	152	Extracellular (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AATTGCCCTTCAGATGCTCCA	0.373													T	174814991	C	T	174814991	3	4	151	1	0	0	0	0	1	0	0	0	10130	838	29	4	461	4	NAALADL2	3	174814991	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	817609	174814991	23207439	56	81572											
IL1RAP	3556	broad.mit.edu	37	chr3	190366294	190366294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattttagtacagtacaaaGctgtgaaggaaacgaaggtg	11	5	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr3:190366294G>A	uc003fsm.1	+	12	1719	c.1513G>A	c.(1513-1515)GCT>ACT	p.A505T	IL1RAP_uc010hzg.1_Missense_Mutation_p.A505T|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.A505T|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	505	Cytoplasmic (Potential).|TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		ACAGTACAAAGCTGTGAAGGA	0.502													A	190366294	G	A	190366294	3	1	151	1	0	0	0	0	1	0	0	0	7660	971	34	2	1571	2	IL1RAP	3	190366294	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	15551303	190366294	7656136	57	81573											
WHSC1	7468	broad.mit.edu	37	chr4	1980505	1980505	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccggacgggcggtcctacTgctgtgagcatgacttaggg	15	12	0	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr4:1980505T>C	uc003gdz.3	+	22	4143	c.3967T>C	c.(3967-3969)TGC>CGC	p.C1323R	WHSC1_uc003geb.3_Missense_Mutation_p.C1323R|WHSC1_uc003gec.3_Missense_Mutation_p.C1323R|WHSC1_uc003ged.3_Missense_Mutation_p.C1323R|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.C542R|WHSC1_uc011bvh.1_Missense_Mutation_p.C384R|WHSC1_uc010icf.2_Missense_Mutation_p.C671R	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	1323					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GCGGTCCTACTGCTGTGAGCA	0.622			T	IGH@	MM								C	1980505	T	C	1980505	3	2	151	1	0	0	0	0	1	0	0	0	17359	1580	55	3	4125	3	WHSC1	4	1980505	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08		1980505	189173771	58	81574											
CLRN2	645104	broad.mit.edu	37	chr4	17528460	17528460	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgtcgtggcgttagccAtcgccagcttcgtggctgcg	16	13	0	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr4:17528460A>G	uc003gpg.1	+	3	556	c.454A>G	c.(454-456)ATC>GTC	p.I152V		NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN	clarin 2	152	Helical; (Potential).					integral to membrane					0						GGCGTTAGCCATCGCCAGCTT	0.522													G	17528460	A	G	17528460	3	3	151	1	0	0	0	0	1	0	0	0	3558	217	8	3	464	3	CLRN2	4	17528460	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	15547955	17528460	173625816	59	81575											
KLB	152831	broad.mit.edu	37	chr4	39439358	39439358	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctgtgcagcaataaggttaGatgaaatacgagtgtttggt	12	4	1	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr4:39439358G>A	uc003gua.2	+	3	1445	c.1348G>A	c.(1348-1350)GAT>AAT	p.D450N	KLB_uc011byj.1_Missense_Mutation_p.D450N	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	450	Extracellular (Potential).|Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						AATAAGGTTAGATGAAATACG	0.418													A	39439358	G	A	39439358	3	1	151	1	0	0	0	0	1	0	0	0	8332	942	33	4	1358	4	KLB	4	39439358	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	21910898	39439358	151714918	60	81576											
NPFFR2	10886	broad.mit.edu	37	chr4	73012916	73012916	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaaatcaggaaatgaggaAgatctacaccactgtgctgt	10	9	2	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr4:73012916A>G	uc003hgg.2	+	4	1054	c.956A>G	c.(955-957)AAG>AGG	p.K319R	NPFFR2_uc010iig.1_Missense_Mutation_p.K101R|NPFFR2_uc003hgi.2_Missense_Mutation_p.K220R|NPFFR2_uc003hgh.2_Missense_Mutation_p.K217R|NPFFR2_uc003hgj.2_RNA	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	319	Extracellular (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GAAATGAGGAAGATCTACACC	0.473													G	73012916	A	G	73012916	3	3	151	1	0	0	0	0	1	0	0	0	10578	72	3	3	976	3	NPFFR2	4	73012916	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	33573558	73012916	118141360	61	81577											
STBD1	8987	broad.mit.edu	37	chr4	77230709	77230709	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggtgcctaggcactcatcTtggggggatgttggtgtggg	18	6	2	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr4:77230709T>C	uc003hka.2	+	2	879	c.633T>C	c.(631-633)TCT>TCC	p.S211S	STBD1_uc003hjy.2_3'UTR|STBD1_uc011cbv.1_3'UTR|STBD1_uc011cbw.1_Silent_p.S62S	NM_003943	NP_003934	O95210	STBD1_HUMAN	starch binding domain 1	211	Cytoplasmic (Potential).				carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding			ovary(1)	1			Lung(101;0.196)			GGCACTCATCTTGGGGGGATG	0.502													C	77230709	T	C	77230709	2	2	151	1	0	0	0	0	0	0	0	1	15273	1596	56	3		3	STBD1	4	77230709	Silent	SNP	T	TCGA-CD-8535-01A-11D-2340-08	4217793	77230709	113923567	62	81578											
MTTP	4547	broad.mit.edu	37	chr4	100528022	100528022	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttccagaaggcatcccaAgtcttctgaagtatgcagaa	9	10	2	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr4:100528022A>G	uc003hvc.3	+	12	1718	c.1462A>G	c.(1462-1464)AGT>GGT	p.S488G	MTTP_uc011cej.1_Missense_Mutation_p.S515G	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	488	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AGGCATCCCAAGTCTTCTGAA	0.478													G	100528022	A	G	100528022	3	3	151	1	0	0	0	0	1	0	0	0	9964	72	3	3	1504	3	MTTP	4	100528022	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	23297313	100528022	90626254	63	81579											
H2AFZ	3015	broad.mit.edu	37	chr4	100870839	100870839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgcaagccggctctctgcGagcgggaaaccgcctttgtc	12	15	1	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr4:100870839G>A	uc003hvo.1	-	2	247	c.62C>T	c.(61-63)TCG>TTG	p.S21L	DNAJB14_uc003hvl.2_5'Flank|DNAJB14_uc010ili.2_5'Flank|DNAJB14_uc003hvm.2_5'Flank|H2AFZ_uc003hvn.1_Missense_Mutation_p.S21L|LOC256880_uc003hvp.1_5'Flank	NM_002106	NP_002097	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	21					nucleosome assembly	nucleosome|nucleus	DNA binding				0				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		GGCTCTCTGCGAGCGGGAAAC	0.567													A	100870839	G	A	100870839	3	1	151	1	0	0	0	0	1	0	0	0	6931	1059	37	1	340	1	H2AFZ	4	100870839	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	342817	100870839	90283437	64	81580											
NDST3	9348	broad.mit.edu	37	chr4	119158338	119158338	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agccaagattatcaccattcTcattgacccttcagaccgag	6	13	3	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr4:119158338T>G	uc003ibx.2	+	10	2484	c.2081T>G	c.(2080-2082)CTC>CGC	p.L694R	NDST3_uc011cgf.1_3'UTR	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	694	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						ATCACCATTCTCATTGACCCT	0.443													G	119158338	T	G	119158338	3	3	151	1	0	0	0	0	1	0	0	0	10257	1551	54	5	2115	5	NDST3	4	119158338	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	18287499	119158338	71995938	65	81581											
PDGFC	56034	broad.mit.edu	37	chr4	157732094	157732094	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctttagaaatctgttttccTggtacagtaccagaaccaca	6	11	1	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr4:157732094T>A	uc003iph.1	-	3	881	c.390A>T	c.(388-390)CCA>CCT	p.P130P	PDGFC_uc003ipi.1_5'UTR|PDGFC_uc011cis.1_5'UTR|PDGFC_uc011cir.1_Intron	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	platelet-derived growth factor C precursor	130	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			ovary(1)|lung(1)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TCTGTTTTCCTGGTACAGTAC	0.388													A	157732094	T	A	157732094	2	1	151	1	0	0	0	0	0	0	0	1	11659	1567	55	5		5	PDGFC	4	157732094	Silent	SNP	T	TCGA-CD-8535-01A-11D-2340-08	38573756	157732094	33422182	66	81582											
VEGFC	7424	broad.mit.edu	37	chr4	177713384	177713384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactcgaaggcggcggcggCggcgggcgcctcgcgaggac	21	13	0	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr4:177713384C>T	uc003ius.1	-	1	512	c.82G>A	c.(82-84)GCC>ACC	p.A28T		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	28					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(5)	5		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		gcggcggcggcggcgggcgcc	0.562													T	177713384	C	T	177713384	3	4	151	1	0	0	0	0	1	0	0	0	17149	768	27	1	1208	1	VEGFC	4	177713384	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	19981290	177713384	13440892	67	81583											
AGA	175	broad.mit.edu	37	chr4	178363527	178363527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagttcgacttccgcgcCatccctgaccaccgaagaga	10	15	0	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr4:178363527C>T	uc003iuu.1	-	1	65	c.3G>A	c.(1-3)ATG>ATA	p.M1I	uc003iux.1_5'Flank|AGA_uc003iuv.1_5'Flank|AGA_uc003iuw.2_5'Flank	NM_000027	NP_000018	P20933	ASPG_HUMAN	aspartylglucosaminidase precursor	1					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity				0		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		ACTTCCGCGCCATCCCTGACC	0.657													T	178363527	C	T	178363527	3	4	151	1	0	0	0	0	1	0	0	0	365	594	21	4	1073	4	AGA	4	178363527	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	650143	178363527	12790749	68	81584											
CTNND2	1501	broad.mit.edu	37	chr5	11411757	11411757	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctcatcttcgatatctttTtgaccatctgaaatgaaata	5	8	4	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr5:11411757T>G	uc003jfa.1	-	5	475	c.330A>C	c.(328-330)CAA>CAC	p.Q110H	CTNND2_uc010itt.2_Missense_Mutation_p.Q19H|CTNND2_uc011cmy.1_Missense_Mutation_p.Q19H|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	110					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						CGATATCTTTTTGACCATCTG	0.343													G	11411757	T	G	11411757	3	3	151	1	0	0	0	0	1	0	0	0	4020	1838	64	5	3419	5	CTNND2	5	11411757	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08		11411757	169503503	69	81585											
FBXL7	23194	broad.mit.edu	37	chr5	15937126	15937126	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcaagcggctcagcctcaAgtcctgcgagagcatcaccg	10	16	4	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr5:15937126A>G	uc003jfn.1	+	4	1788	c.1307A>G	c.(1306-1308)AAG>AGG	p.K436R		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	436	LRR 10.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						CTCAGCCTCAAGTCCTGCGAG	0.592													G	15937126	A	G	15937126	3	3	151	1	0	0	0	0	1	0	0	0	5724	72	3	3	1321	3	FBXL7	5	15937126	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	4525369	15937126	164978134	70	81586											
MYO10	4651	broad.mit.edu	37	chr5	16671582	16671582	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttttggcacgttgtctgtGtccaggaagcagtaaagttt	11	7	2	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr5:16671582G>A	uc003jft.3	-	38	5847	c.5379C>T	c.(5377-5379)GAC>GAT	p.D1793D	MYO10_uc011cnb.1_Silent_p.D422D|MYO10_uc011cnc.1_Silent_p.D672D|MYO10_uc011cnd.1_Silent_p.D1150D|MYO10_uc011cne.1_Silent_p.D1150D|MYO10_uc010itx.2_Silent_p.D1415D	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1793	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						CGTTGTCTGTGTCCAGGAAGC	0.463													A	16671582	G	A	16671582	2	1	151	1	0	0	0	0	0	0	0	1	10062	1368	48	4		4	MYO10	5	16671582	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	734456	16671582	164243678	71	81587											
PARP8	79668	broad.mit.edu	37	chr5	50117139	50117139	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatccttctgtggtagatccTaatgatcctcagatgttggc	9	9	2	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr5:50117139T>C	uc003jon.3	+	17	1943	c.1761T>C	c.(1759-1761)CCT>CCC	p.P587P	PARP8_uc011cpz.1_Silent_p.P479P|PARP8_uc003joo.2_Silent_p.P587P|PARP8_uc003jop.2_Intron	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	587						intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				TGGTAGATCCTAATGATCCTC	0.393													C	50117139	T	C	50117139	2	2	151	1	0	0	0	0	0	0	0	1	11465	1509	53	3		3	PARP8	5	50117139	Silent	SNP	T	TCGA-CD-8535-01A-11D-2340-08	33445557	50117139	130798121	72	81588											
APC	324	broad.mit.edu	37	chr5	112175951	112175952	+	Frame_Shift_Ins	INS	-	-	A													aaaccaagagaaagaggcagINSaaaaaactattgattctgaa							TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr5:112175951_112175952insA	uc010jby.2	+	16	5040_5041	c.4660_4661insA	c.(4660-4662)GAAfs	p.E1554fs	APC_uc011cvt.1_Frame_Shift_Ins_p.E1536fs|APC_uc003kpz.3_Frame_Shift_Ins_p.E1554fs|APC_uc003kpy.3_Frame_Shift_Ins_p.E1554fs|APC_uc010jbz.2_Frame_Shift_Ins_p.E1271fs|APC_uc010jca.2_Frame_Shift_Ins_p.E854fs	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1554	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.T1556fs*3(35)|p.E1554fs*5(2)|p.E1554*(2)|p.?(1)|p.T1556fs*9(1)|p.K1192fs*3(1)|p.?fs(1)|p.E1554fs*11(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAAAGAGGCAGAAAAAACTATT	0.342		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			A	112175952	-	A	112175951	7	5	151	1	0	1	1	0	0	0	0	0	763	943	33	0	4718	0	APC	5	112175951	Frame_Shift_Ins	INS	-	TCGA-CD-8535-01A-11D-2340-08	62058812	112175951	68739309	73	81589	406	2									
APC	324	broad.mit.edu	37	chr5	112175952	112175953	+	Frame_Shift_Ins	INS	-	-	A													aaccaagagaaagaggcagaINSaaaaactattgattctgaaa							TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr5:112175951_112175952G>GA	uc003kpz.4	+	16	4853_4854	c.4660_4661G>GA	c.(4660-4662)gaafs	p.E1554fs	APC_uc011cvt.2_Frame_Shift_Ins_p.E1536fs|APC_uc003kpy.4_Frame_Shift_Ins_p.E1554fs|APC_uc010jbz.3_Frame_Shift_Ins_p.E1271fs|APC_uc010jca.3_Frame_Shift_Ins_p.E854fs	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1554	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.T1556fs*3(42)|p.E1554fs*5(4)|p.E1554*(3)|p.E1554fs*3(2)|p.?(1)|p.T1556fs*9(1)|p.?fs(1)|p.K1192fs*3(1)|p.E1554fs*11(1)|p.A1553fs*14(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAAAGAGGCAGAAAAAACTATT	0.342		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			A	112175953	-	A	112175952	7	5	151	1	0	1	1	0	0	0	0	0	763	246	9	0	4719	0	APC	5	112175952	Frame_Shift_Ins	INS	-	TCGA-CD-8535-01A-11D-2340-08	1	112175952	68739308	74	81590	406	2									
PCDHB3	56132	broad.mit.edu	37	chr5	140481367	140481367	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctagactctggagacaaCggaagagtgatgtgttccat	12	7	2	4			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr5:140481367C>T	uc003lio.2	+	1	1134	c.1134C>T	c.(1132-1134)AAC>AAT	p.N378N	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	378	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGAGACAACGGAAGAGTGA	0.473													T	140481367	C	T	140481367	2	4	151	1	0	0	0	0	0	0	0	1	11543	535	19	1		1	PCDHB3	5	140481367	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08	28305415	140481367	40433893	75	81591											
FCHSD1	89848	broad.mit.edu	37	chr5	141026260	141026260	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccactcttgccagccacGccttctgctccccactccag	7	20	2	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr5:141026260G>A	uc003llk.2	-	11	1005	c.954C>T	c.(952-954)GGC>GGT	p.G318G	FCHSD1_uc010jgg.2_5'UTR|FCHSD1_uc003llj.2_RNA	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	318									FCHSD1/BRAF(2)	skin(2)|ovary(1)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCAGCCACGCCTTCTGCTC	0.602													A	141026260	G	A	141026260	2	1	151	1	0	0	0	0	0	0	0	1	5789	1074	38	1		1	FCHSD1	5	141026260	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	544893	141026260	39889000	76	81592											
GABRA6	2559	broad.mit.edu	37	chr5	161113263	161113263	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgccctagggaaactcgaAgttgaaggcaacttctactc	9	10	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr5:161113263A>C	uc003lyu.2	+	2	404	c.66A>C	c.(64-66)GAA>GAC	p.E22D		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	22	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGAAACTCGAAGTTGAAGGCA	0.478										TCGA Ovarian(5;0.080)			C	161113263	A	C	161113263	3	2	151	1	0	0	0	0	1	0	0	0	6165	69	3	5	72	5	GABRA6	5	161113263	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	20087003	161113263	19801997	77	81593											
ELOVL2	54898	broad.mit.edu	37	chr6	10995345	10995345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcgtttttttccgcaaaaCgaagaaaattgtgtccagga	8	8	0	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr6:10995345C>T	uc003mzp.3	-	5	561	c.400G>A	c.(400-402)GTT>ATT	p.V134I		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	elongation of very long chain fatty acids-like	134					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TTCCGCAAAACGAAGAAAATT	0.393													T	10995345	C	T	10995345	3	4	151	1	0	0	0	0	1	0	0	0	5074	536	19	1	506	1	ELOVL2	6	10995345	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08		10995345	160119722	78	81594											
MYLIP	29116	broad.mit.edu	37	chr6	16143326	16143326	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagttttgcagattgtgtcGgcaatggaaaactatggcat	11	6	0	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr6:16143326G>A	uc003nbq.2	+	4	777	c.540G>A	c.(538-540)TCG>TCA	p.S180S	MYLIP_uc003nbr.2_5'UTR	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting	180	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			pancreas(1)	1	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			AGATTGTGTCGGCAATGGAAA	0.478													A	16143326	G	A	16143326	2	1	151	1	0	0	0	0	0	0	0	1	10055	1103	39	1		1	MYLIP	6	16143326	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	5147981	16143326	154971741	79	81595											
SLC17A1	6568	broad.mit.edu	37	chr6	25820066	25820066	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaagtatccaacaggaacTtggatgatgatgacaccata	10	7	0	4			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr6:25820066T>C	uc003nfh.3	-	4	401	c.285A>G	c.(283-285)CAA>CAG	p.Q95Q	SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Silent_p.Q93Q|SLC17A1_uc010jqc.1_Silent_p.Q93Q	NM_005074	NP_005065	Q14916	NPT1_HUMAN	solute carrier family 17 (sodium phosphate),	95	Helical; (Potential).				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(3)|pancreas(1)	4						CAACAGGAACTTGGATGATGA	0.438													C	25820066	T	C	25820066	2	2	151	1	0	0	0	0	0	0	0	1	14416	1606	56	3		3	SLC17A1	6	25820066	Silent	SNP	T	TCGA-CD-8535-01A-11D-2340-08	9676740	25820066	145295001	80	81596											
SLC17A3	10786	broad.mit.edu	37	chr6	25850086	25850086	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgactgacacaatgtgctTaatccgcaagagagcgtcag	10	11	1	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr6:25850086T>A	uc003nfi.3	-	9	1094	c.984A>T	c.(982-984)TTA>TTT	p.L328F	SLC17A3_uc003nfk.3_Missense_Mutation_p.L406F	NM_006632	NP_006623	O00476	NPT4_HUMAN	solute carrier family 17 (sodium phosphate),	328	Helical; (Potential).				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity				0						ACAATGTGCTTAATCCGCAAG	0.433													A	25850086	T	A	25850086	3	1	151	1	0	0	0	0	1	0	0	0	14418	1751	61	5	290	5	SLC17A3	6	25850086	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	30020	25850086	145264981	81	81597											
VARS2	57176	broad.mit.edu	37	chr6	30890003	30890003	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacccagctcacagggcaGctgcccttcagcaaggtaag	13	13	2	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr6:30890003G>A	uc003nsc.1	+	19	2549	c.1917G>A	c.(1915-1917)CAG>CAA	p.Q639Q	VARS2_uc011dmx.1_Silent_p.Q639Q|VARS2_uc011dmy.1_Silent_p.Q499Q|VARS2_uc011dmz.1_Silent_p.Q669Q|VARS2_uc011dna.1_Silent_p.Q637Q|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Missense_Mutation_p.A55T|VARS2_uc010jsg.1_Silent_p.Q11Q|VARS2_uc010jsh.1_5'Flank	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	639					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						TCACAGGGCAGCTGCCCTTCA	0.577													A	30890003	G	A	30890003	2	1	151	1	0	0	0	0	0	0	0	1	17121	962	34	2		2	VARS2	6	30890003	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	5039917	30890003	140225064	82	81598											
SLC26A8	116369	broad.mit.edu	37	chr6	35965625	35965625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgacgaaagatcccatgaCcagttgaccgttgttgaatg	10	9	0	5			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr6:35965625C>T	uc003olm.2	-	5	628	c.517G>A	c.(517-519)GTC>ATC	p.V173I	SLC26A8_uc003oln.2_Missense_Mutation_p.V173I|SLC26A8_uc003oll.2_Missense_Mutation_p.V173I	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	173	Extracellular (Potential).				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			ovary(2)	2						GATCCCATGACCAGTTGACCG	0.473													T	35965625	C	T	35965625	3	4	151	1	0	0	0	0	1	0	0	0	14523	507	18	4	2459	4	SLC26A8	6	35965625	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	5075622	35965625	135149442	83	81599											
PKHD1	5314	broad.mit.edu	37	chr6	51484093	51484093	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggtatctgagcaactgcTcttggccctccttccagttc	9	14	2	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr6:51484093T>C	uc003pah.1	-	67	12287	c.12011A>G	c.(12010-12012)GAG>GGG	p.E4004G		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	4004	Cytoplasmic (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					GAGCAACTGCTCTTGGCCCTC	0.572													C	51484093	T	C	51484093	3	2	151	1	0	0	0	0	1	0	0	0	11971	1551	54	3	217	3	PKHD1	6	51484093	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	15518468	51484093	119630974	84	81600											
MANEA	79694	broad.mit.edu	37	chr6	96054138	96054138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcagattgaaaaagctgttCccaaaagaaccagtaataca	6	9	1	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr6:96054138C>T	uc003poo.1	+	5	1386	c.1246C>T	c.(1246-1248)CCC>TCC	p.P416S		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	416	Catalytic (Probable).|Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		AAAAGCTGTTCCCAAAAGAAC	0.423													T	96054138	C	T	96054138	3	4	151	1	0	0	0	0	1	0	0	0	9221	855	30	4	1260	4	MANEA	6	96054138	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	44570045	96054138	75060929	85	81601											
C6orf167	253714	broad.mit.edu	37	chr6	97629852	97629852	+	Missense_Mutation	SNP	T	T	A													tatcatcccaaccaaaaagtTgaataattgatataactggc							TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr6:97629852T>A	uc003ppb.2	-	16	2578	c.2312A>T	c.(2311-2313)CAA>CTA	p.Q771L	C6orf167_uc011eaf.1_Missense_Mutation_p.Q731L	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	771					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		ACCAAAAAGTTGAATAATTGA	0.378													A	97629852	T	A	97629852	3	1	151	1	0	0	0	0	1	0	0	0	2342	1812	63	5	1459	5	C6orf167	6	97629852	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	1575714	97629852	73485215	86	81602	407	2									
C6orf167	253714	broad.mit.edu	37	chr6	97629859	97629859	+	Missense_Mutation	SNP	T	T	G													ccaaccaaaaagttgaataaTtgatataactggctgaggct							TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr6:97629859T>G	uc003ppb.2	-	16	2571	c.2305A>C	c.(2305-2307)ATT>CTT	p.I769L	C6orf167_uc011eaf.1_Missense_Mutation_p.I729L	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	769					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		AGTTGAATAATTGATATAACT	0.373													G	97629859	T	G	97629859	3	3	151	1	0	0	0	0	1	0	0	0	2342	1493	52	5	1466	5	C6orf167	6	97629859	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	7	97629859	73485208	87	81603	407	2									
RFPL4B	442247	broad.mit.edu	37	chr6	112671377	112671377	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttgaagtgggagaggtgaAgtcatggtccctgggcgtct	18	6	2	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr6:112671377A>C	uc003pvx.1	+	3	779	c.467A>C	c.(466-468)AAG>ACG	p.K156T		NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	156	B30.2/SPRY.						zinc ion binding				0		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		GGAGAGGTGAAGTCATGGTCC	0.552													C	112671377	A	C	112671377	3	2	151	1	0	0	0	0	1	0	0	0	13256	72	3	5	469	5	RFPL4B	6	112671377	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	15041518	112671377	58443690	88	81604											
ROS1	6098	broad.mit.edu	37	chr6	117710930	117710930	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcaactctccacaatacGcacagcttctgcacaccggc	7	17	2	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr6:117710930G>C	uc003pxp.1	-	12	1541	c.1342C>G	c.(1342-1344)CGT>GGT	p.R448G	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	448	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCCACAATACGCACAGCTTCT	0.448			T	GOPC|ROS1	glioblastoma|NSCLC								C	117710930	G	C	117710930	3	2	151	1	0	0	0	0	1	0	0	0	13531	1087	38	5	5829	5	ROS1	6	117710930	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	5039553	117710930	53404137	89	81605											
MYB	4602	broad.mit.edu	37	chr6	135539112	135539112	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctcagcccggacgctggtCatgtgagacatttccagaaa	10	11	2	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr6:135539112C>A	uc003qfc.2	+	15	2116	c.1917C>A	c.(1915-1917)GTC>GTA	p.V639V	MYB_uc003qfh.2_Silent_p.V760V|MYB_uc003qfi.2_Silent_p.V744V|MYB_uc010kgi.2_Silent_p.V602V|MYB_uc003qfq.2_Silent_p.V757V|MYB_uc010kgj.2_Silent_p.V604V|MYB_uc003qfo.2_Silent_p.V554V|MYB_uc003qfu.2_Silent_p.V636V|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_Silent_p.V265V|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Silent_p.V451V|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA	NM_005375	NP_005366	P10242	MYB_HUMAN	v-myb myeloblastosis viral oncogene homolog	639					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			lung(1)	1	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GGACGCTGGTCATGTGAGACA	0.438			T	NFIB	adenoid cystic carcinoma								A	135539112	C	A	135539112	2	1	151	1	0	0	0	0	0	0	0	1	10007	813	29	5		5	MYB	6	135539112	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08	17828182	135539112	35575955	90	81606											
KATNA1	11104	broad.mit.edu	37	chr6	149916259	149916259	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaaccttttttaaagccatCtcgaaatcctccatagttgt	5	10	1	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr6:149916259C>T	uc003qmr.1	-	10	1434	c.1389G>A	c.(1387-1389)GAG>GAA	p.E463E	KATNA1_uc003qms.2_Silent_p.E463E|KATNA1_uc003qmt.2_3'UTR	NM_007044	NP_008975	O75449	KTNA1_HUMAN	katanin p60 subunit A 1	463					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			skin(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		TTAAAGCCATCTCGAAATCCT	0.393													T	149916259	C	T	149916259	2	4	151	1	0	0	0	0	0	0	0	1	7984	912	32	4		4	KATNA1	6	149916259	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08	14377147	149916259	21198808	91	81607											
TIAM2	26230	broad.mit.edu	37	chr6	155465823	155465823	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtgtgctctgtttgcagaaGacagcatagtgcagtctgtt	13	7	2	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr6:155465823G>A	uc003qqb.2	+	8	2987	c.1714G>A	c.(1714-1716)GAC>AAC	p.D572N	TIAM2_uc003qqe.2_Missense_Mutation_p.D572N|TIAM2_uc010kjj.2_Missense_Mutation_p.D105N	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	572	PH 1.				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)		GTTTGCAGAAGACAGCATAGT	0.488													A	155465823	G	A	155465823	3	1	151	1	0	0	0	0	1	0	0	0	15888	942	33	4	1724	4	TIAM2	6	155465823	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	5549564	155465823	15649244	92	81608											
TIAM2	26230	broad.mit.edu	37	chr6	155485683	155485683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgccagccgcccctccaaGctggccctcggcaggctggg	14	19	0	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr6:155485683G>A	uc003qqb.2	+	10	3436	c.2163G>A	c.(2161-2163)AAG>AAA	p.K721K	TIAM2_uc003qqe.2_Silent_p.K721K|TIAM2_uc010kjj.2_Silent_p.K254K|TIAM2_uc003qqf.2_Silent_p.K73K|TIAM2_uc011efl.1_Silent_p.K33K|TIAM2_uc003qqg.2_Silent_p.K33K	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	721					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)		GCCCCTCCAAGCTGGCCCTCG	0.592													A	155485683	G	A	155485683	2	1	151	1	0	0	0	0	0	0	0	1	15888	962	34	2		2	TIAM2	6	155485683	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	19860	155485683	15629384	93	81609											
PNLDC1	154197	broad.mit.edu	37	chr6	160225002	160225002	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgttttattataggtataTagcccattcttgtaacttct	5	6	2	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr6:160225002T>G	uc003qsx.1	+	5	392	c.221T>G	c.(220-222)ATA>AGA	p.I74R	PNLDC1_uc003qsy.1_Missense_Mutation_p.I85R	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain	74	Cytoplasmic (Potential).					integral to membrane|nucleus	nucleic acid binding				0		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TATAGGTATATAGCCCATTCT	0.408													G	160225002	T	G	160225002	3	3	151	1	0	0	0	0	1	0	0	0	12148	1406	49	5	235	5	PNLDC1	6	160225002	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	4739319	160225002	10890065	94	81610											
VPS41	27072	broad.mit.edu	37	chr7	38783011	38783011	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttatgcttacgtggtttgtCaatggaatataaaatcaaat	7	4	2	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr7:38783011C>T	uc003tgy.2	-	24	2139	c.2113G>A	c.(2113-2115)GAC>AAC	p.D705N	VPS41_uc003tgz.2_Missense_Mutation_p.D680N|VPS41_uc010kxn.2_Missense_Mutation_p.D616N|VPS41_uc003tgx.2_RNA	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	705	Clathrin.				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						CGTGGTTTGTCAATGGAATAT	0.343													T	38783011	C	T	38783011	3	4	151	1	0	0	0	0	1	0	0	0	17207	826	29	4	475	4	VPS41	7	38783011	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08		38783011	120355652	95	81611											
MLXIPL	51085	broad.mit.edu	37	chr7	73008307	73008307	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagctggcgtagggagttcAggacagctgggtgggagaca	18	8	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr7:73008307A>C	uc003tyn.1	-	17	2495	c.2447T>G	c.(2446-2448)CTG>CGG	p.L816R	MLXIPL_uc003tyj.1_Missense_Mutation_p.L195R|MLXIPL_uc003tyk.1_Missense_Mutation_p.L795R|MLXIPL_uc003tyl.1_Missense_Mutation_p.L814R|MLXIPL_uc003tym.1_Missense_Mutation_p.L797R|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_3'UTR	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	816					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				TAGGGAGTTCAGGACAGCTGG	0.607													C	73008307	A	C	73008307	3	2	151	1	0	0	0	0	1	0	0	0	9637	188	7	5	115	5	MLXIPL	7	73008307	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	34225296	73008307	86130356	96	81612											
MAGI2	9863	broad.mit.edu	37	chr7	78636484	78636484	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaacccttttgaaatcgtaAgttgaggtagtgacgaaggt	12	5	0	4			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr7:78636484A>C	uc003ugx.2	-	2	594	c.340T>G	c.(340-342)TTA>GTA	p.L114V	MAGI2_uc003ugy.2_Missense_Mutation_p.L114V	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	114	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGAAATCGTAAGTTGAGGTAG	0.388													C	78636484	A	C	78636484	3	2	151	1	0	0	0	0	1	0	0	0	9191	69	3	5	4111	5	MAGI2	7	78636484	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	5628177	78636484	80502179	97	81613											
CACNA2D1	781	broad.mit.edu	37	chr7	81746398	81746398	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggaatatggactgctgcgTgctgataagatatttgtcgt	12	5	0	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr7:81746398T>C	uc003uhr.1	-	6	744	c.488A>G	c.(487-489)CAC>CGC	p.H163R		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	163	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GACTGCTGCGTGCTGATAAGA	0.408													C	81746398	T	C	81746398	3	2	151	1	0	0	0	0	1	0	0	0	2548	1696	59	3	2923	3	CACNA2D1	7	81746398	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	3109914	81746398	77392265	98	81614											
PCLO	27445	broad.mit.edu	37	chr7	82545288	82545288	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtctaaactattgtacTtactaccaagatgggaaaca	6	8	2	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr7:82545288T>G	uc003uhx.2	-	7	12303	c.12014A>C	c.(12013-12015)AAG>ACG	p.K4005T	PCLO_uc003uhv.2_Missense_Mutation_p.K4005T|PCLO_uc010lec.2_Missense_Mutation_p.K970T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3936					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ACTATTGTACTTACTACCAAG	0.393													G	82545288	T	G	82545288	3	3	151	1	0	0	0	0	1	0	0	0	11583	1609	56	5	3507	5	PCLO	7	82545288	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	798890	82545288	76593375	99	81615											
ABCB1	5243	broad.mit.edu	37	chr7	87148690	87148690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatgtgccaccaagtaggctCcaaaccggaaacatccagca	8	13	0	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr7:87148690C>T	uc003uiz.1	-	24	3297	c.2879G>A	c.(2878-2880)GGA>GAA	p.G960E	ABCB1_uc011khc.1_Missense_Mutation_p.G896E	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	960	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CAAGTAGGCTCCAAACCGGAA	0.313													T	87148690	C	T	87148690	3	4	151	1	0	0	0	0	1	0	0	0	40	855	30	4	987	4	ABCB1	7	87148690	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	4603402	87148690	71989973	100	81616											
CCDC132	55610	broad.mit.edu	37	chr7	92983058	92983058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtatacgattggctaatcGaactattgtagaagggtaag	11	4	0	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr7:92983058G>A	uc003umo.2	+	26	2698	c.2570G>A	c.(2569-2571)CGA>CAA	p.R857Q	CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.R827Q|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.R577Q	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132 isoform a	857											0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGGCTAATCGAACTATTGTA	0.338													A	92983058	G	A	92983058	3	1	151	1	0	0	0	0	1	0	0	0	2767	1058	37	1	2714	1	CCDC132	7	92983058	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	5834368	92983058	66155605	101	81617											
MUC17	140453	broad.mit.edu	37	chr7	100674400	100674400	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	actcccctttgtctctttcaGacctcagtgtgaacagggct	8	13	3	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr7:100674400G>C	uc003uxp.1	+	2	136	c.83_splice	c.e2-1	p.D28_splice	MUC17_uc010lho.1_Splice_Site	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor							extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCTCTTTCAGACCTCAGTGT	0.547													C	100674400	G	C	100674400	5	2	151	1	0	0	0	0	0	0	1	0	9974	956	33	5	88	5	MUC17	7	100674400	Splice_Site	SNP	G	TCGA-CD-8535-01A-11D-2340-08	7691342	100674400	58464263	102	81618			1	41		3	3	1470	G		9.766321e-05
MUC17	140453	broad.mit.edu	37	chr7	100675338	100675338	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caaatcaactaacagtgaagGaagcactccattaacaagta	6	9	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr7:100675338G>T	uc003uxp.1	+	3	694	c.641G>T	c.(640-642)GGA>GTA	p.G214V	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	214	Extracellular (Potential).|1.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					AACAGTGAAGGAAGCACTCCA	0.473													T	100675338	G	T	100675338	3	4	151	1	0	0	0	0	1	0	0	0	9974	1174	41	5	651	5	MUC17	7	100675338	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	938	100675338	58463325	103	81619			1	41		3	3	1470	G		9.766321e-05
MUC17	140453	broad.mit.edu	37	chr7	100675869	100675869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacctcaactcttagtgaagGaagcactccattaacaaata	5	10	2	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr7:100675869G>A	uc003uxp.1	+	3	1225	c.1172G>A	c.(1171-1173)GGA>GAA	p.G391E	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	391	Extracellular (Potential).|59 X approximate tandem repeats.|4.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTAGTGAAGGAAGCACTCCA	0.463													A	100675869	G	A	100675869	3	1	151	1	0	0	0	0	1	0	0	0	9974	1174	41	4	1182	4	MUC17	7	100675869	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	531	100675869	58462794	104	81620			1	41		3	3	1470	G		9.766321e-05
PIK3CG	5294	broad.mit.edu	37	chr7	106508581	106508581	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcggaggtggccagccgcgAccccaagctctacgccatgc	14	16	1	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr7:106508581A>G	uc003vdv.3	+	2	660	c.575A>G	c.(574-576)GAC>GGC	p.D192G	PIK3CG_uc003vdu.2_Missense_Mutation_p.D192G|PIK3CG_uc003vdw.2_Missense_Mutation_p.D192G	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	192					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						GCCAGCCGCGACCCCAAGCTC	0.617													G	106508581	A	G	106508581	3	3	151	1	0	0	0	0	1	0	0	0	11916	275	10	3	577	3	PIK3CG	7	106508581	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	5832712	106508581	52630082	105	81621											
PIK3CG	5294	broad.mit.edu	37	chr7	106508825	106508825	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaggattttgtgctgcgCgtctgtggccgggatgagta	16	7	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr7:106508825C>T	uc003vdv.3	+	2	904	c.819C>T	c.(817-819)CGC>CGT	p.R273R	PIK3CG_uc003vdu.2_Silent_p.R273R|PIK3CG_uc003vdw.2_Silent_p.R273R	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	273					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						TTGTGCTGCGCGTCTGTGGCC	0.547													T	106508825	C	T	106508825	2	4	151	1	0	0	0	0	0	0	0	1	11916	755	27	1		1	PIK3CG	7	106508825	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08	244	106508825	52629838	106	81622											
GPR37	2861	broad.mit.edu	37	chr7	124404054	124404054	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagtcctccagcagccacTtcttggtcagctcgtggaag	11	12	2	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr7:124404054T>C	uc003vli.2	-	1	1628	c.977A>G	c.(976-978)AAG>AGG	p.K326R		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	326	Extracellular (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						CAGCAGCCACTTCTTGGTCAG	0.522													C	124404054	T	C	124404054	3	2	151	1	0	0	0	0	1	0	0	0	6691	1609	56	3	872	3	GPR37	7	124404054	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	17895229	124404054	34734609	107	81623											
GRM8	2918	broad.mit.edu	37	chr7	126409924	126409924	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgttgtaacttaccattaAaatttacagcccgaatataa	4	9	0	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr7:126409924A>C	uc003vlr.2	-	6	1663	c.1352T>G	c.(1351-1353)TTT>TGT	p.F451C	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.F451C|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.F172C	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	451	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTTACCATTAAAATTTACAGC	0.398										HNSCC(24;0.065)			C	126409924	A	C	126409924	3	2	151	1	0	0	0	0	1	0	0	0	6803	14	1	5	1444	5	GRM8	7	126409924	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	2005870	126409924	32728739	108	81624											
PLXNA4	91584	broad.mit.edu	37	chr7	131859619	131859619	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctatagtccaggaacggaAtcccggctccatccaggtca	9	13	2	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr7:131859619A>C	uc003vra.3	-	21	4164	c.3935T>G	c.(3934-3936)ATT>AGT	p.I1312S		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1312	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						CAGGAACGGAATCCCGGCTCC	0.577													C	131859619	A	C	131859619	3	2	151	1	0	0	0	0	1	0	0	0	12122	101	4	5	1797	5	PLXNA4	7	131859619	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	5449695	131859619	27279044	109	81625											
LRGUK	136332	broad.mit.edu	37	chr7	133948719	133948719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctccaatccctcagggcCgcaggtagactagcacttga	9	15	1	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr7:133948719C>T	uc003vrm.1	+	20	2486	c.2470C>T	c.(2470-2472)CGC>TGC	p.R824C		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	824							ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5						CCCTCAGGGCCGCAGGTAGAC	0.527													T	133948719	C	T	133948719	3	4	151	1	0	0	0	0	1	0	0	0	8943	652	23	1	2548	1	LRGUK	7	133948719	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	2089100	133948719	25189944	110	81626											
JHDM1D	80853	broad.mit.edu	37	chr7	139791694	139791694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggaagtttcaccaactgGcctttctgggcttagactgc	11	10	2	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr7:139791694G>A	uc003vvm.2	-	19	2645	c.2641C>T	c.(2641-2643)CCA>TCA	p.P881S	JHDM1D_uc010lng.2_RNA	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	881					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)					TCACCAACTGGCCTTTCTGGG	0.507													A	139791694	G	A	139791694	3	1	151	1	0	0	0	0	1	0	0	0	7948	1203	42	2	192	2	JHDM1D	7	139791694	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	5842975	139791694	19346969	111	81627											
CSMD1	64478	broad.mit.edu	37	chr8	3855585	3855585	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagggaagtgcgggctggAgatggagctgctggtcccgc	19	8	0	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr8:3855585A>G	uc011kwk.1	-	5	1048	c.658T>C	c.(658-660)TCC>CCC	p.S220P		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	220	Extracellular (Potential).|CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCGGGCTGGAGATGGAGCTG	0.567													G	3855585	A	G	3855585	3	3	151	1	0	0	0	0	1	0	0	0	3944	304	11	3	10113	3	CSMD1	8	3855585	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08		3855585	142508437	112	81628											
SOX7	83595	broad.mit.edu	37	chr8	10683705	10683705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacggtttttggagattttGgacttttcctcaaggctaaa	9	7	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr8:10683705G>A	uc011kwz.1	-	5	384	c.351C>T	c.(349-351)TCC>TCT	p.S117S	PINX1_uc003wth.2_Silent_p.S117S|PINX1_uc003wti.2_Silent_p.S117S|MIR1322_hsa-mir-1322|MI0006653_5'Flank	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	p.R117C(1)		breast(1)	1				COAD - Colon adenocarcinoma(149;0.0732)		TGGAGATTTTGGACTTTTCCT	0.313													A	10683705	G	A	10683705	2	1	151	1	0	0	0	0	0	0	0	1	14956	1335	47	4		4	SOX7	8	10683705	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	6828120	10683705	135680317	113	81629											
ANK1	286	broad.mit.edu	37	chr8	41552795	41552795	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgctcctcagaaccacgagCtcgcggtctccacggccatg	10	17	2	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr8:41552795C>T	uc003xok.2	-	27	3099	c.3015G>A	c.(3013-3015)GAG>GAA	p.E1005E	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Silent_p.E321E|ANK1_uc003xoi.2_Silent_p.E1005E|ANK1_uc003xoj.2_Silent_p.E1005E|ANK1_uc003xol.2_Silent_p.E1005E|ANK1_uc003xom.2_Silent_p.E1046E	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1005	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAACCACGAGCTCGCGGTCTC	0.597													T	41552795	C	T	41552795	2	4	151	1	0	0	0	0	0	0	0	1	620	796	28	2		2	ANK1	8	41552795	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08	30869090	41552795	104811227	114	81630											
PRKDC	5591	broad.mit.edu	37	chr8	48733370	48733370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagactcagctcttgactGtaatgaagctctagaatcgc	9	10	3	4			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr8:48733370G>A	uc003xqi.2	-	67	9303	c.9246C>T	c.(9244-9246)TAC>TAT	p.Y3082Y	PRKDC_uc003xqj.2_Silent_p.Y3082Y|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3082	KIP-binding.|FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GCTCTTGACTGTAATGAAGCT	0.453								NHEJ					A	48733370	G	A	48733370	2	1	151	1	0	0	0	0	0	0	0	1	12521	1372	48	4		4	PRKDC	8	48733370	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	7180575	48733370	97630652	115	81631											
CYP7B1	9420	broad.mit.edu	37	chr8	65527645	65527645	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaatccagaccctttcTtttgacctgttgactgcagc	9	11	1	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr8:65527645T>G	uc003xvj.2	-	4	1199	c.995A>C	c.(994-996)AAG>ACG	p.K332T		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	332					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGACCCTTTCTTTTGACCTGT	0.443													G	65527645	T	G	65527645	3	3	151	1	0	0	0	0	1	0	0	0	4197	1609	56	5	537	5	CYP7B1	8	65527645	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	16794275	65527645	80836377	116	81632											
EYA1	2138	broad.mit.edu	37	chr8	72184108	72184108	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgaatctttaatgggtgttGatgggctgtggattgtgctg	15	4	1	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr8:72184108G>T	uc003xys.3	-	9	1138	c.851C>A	c.(850-852)TCA>TAA	p.S284*	EYA1_uc003xyr.3_Nonsense_Mutation_p.S279*|EYA1_uc003xyt.3_Nonsense_Mutation_p.S251*|EYA1_uc010lzf.2_Nonsense_Mutation_p.S211*|EYA1_uc003xyu.2_Nonsense_Mutation_p.S284*|EYA1_uc011lfe.1_Nonsense_Mutation_p.S278*|EYA1_uc003xyv.2_Nonsense_Mutation_p.S162*	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	284					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AATGGGTGTTGATGGGCTGTG	0.448													T	72184108	G	T	72184108	4	4	151	1	0	0	0	0	0	1	0	0	5328	1294	45	5	963	5	EYA1	8	72184108	Nonsense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	6656463	72184108	74179914	117	81633											
TRPA1	8989	broad.mit.edu	37	chr8	72970017	72970017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctaatataagtggagagCgtccttcagaatcgatctta	9	7	2	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr8:72970017C>T	uc003xza.2	-	9	1203	c.1028G>A	c.(1027-1029)CGC>CAC	p.R343H		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	343	Cytoplasmic (Potential).|ANK 9.					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	AAGTGGAGAGCGTCCTTCAGA	0.343													T	72970017	C	T	72970017	3	4	151	1	0	0	0	0	1	0	0	0	16574	768	27	1	2407	1	TRPA1	8	72970017	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	785909	72970017	73394005	118	81634											
JPH1	56704	broad.mit.edu	37	chr8	75227106	75227106	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atttacttaccttgaatttgCtatttccactttggttctgg	6	8	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr8:75227106C>G	uc003yae.2	-	2	1169	c.1129G>C	c.(1129-1131)GCA>CCA	p.A377P	JPH1_uc003yaf.2_Missense_Mutation_p.A377P|JPH1_uc003yag.1_Missense_Mutation_p.A241P	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	377	Ala-rich.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CTTGAATTTGCTATTTCCACT	0.443													G	75227106	C	G	75227106	3	3	151	1	0	0	0	0	1	0	0	0	7960	797	28	5	872	5	JPH1	8	75227106	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	2257089	75227106	71136916	119	81635											
LRRCC1	85444	broad.mit.edu	37	chr8	86041417	86041417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttctgctttaggctaaagGaaattatttttagagagaga	9	4	1	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr8:86041417G>A	uc003ycw.2	+	10	1583	c.1429G>A	c.(1429-1431)GAA>AAA	p.E477K	LRRCC1_uc010lzz.1_Intron|LRRCC1_uc010maa.1_Missense_Mutation_p.E178K|LRRCC1_uc003ycx.2_Missense_Mutation_p.E384K|LRRCC1_uc003ycy.2_Missense_Mutation_p.E457K	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	477	Potential.				cell division|mitosis	centriole|nucleus					0						TAGGCTAAAGGAAATTATTTT	0.303													A	86041417	G	A	86041417	3	1	151	1	0	0	0	0	1	0	0	0	9026	1175	41	4	1467	4	LRRCC1	8	86041417	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	10814311	86041417	60322605	120	81636											
RIMS2	9699	broad.mit.edu	37	chr8	104955056	104955056	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagccacattggtacaaacTtcagacgcatgatgtctctt	8	10	2	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr8:104955056T>C	uc003yls.2	+	12	2178	c.1937T>C	c.(1936-1938)CTT>CCT	p.L646P	RIMS2_uc003ylp.2_Missense_Mutation_p.L868P|RIMS2_uc003ylw.2_Missense_Mutation_p.L660P|RIMS2_uc003ylq.2_Missense_Mutation_p.L660P|RIMS2_uc003ylr.2_Missense_Mutation_p.L707P|RIMS2_uc003ylt.2_Missense_Mutation_p.L253P	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	930					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGTACAAACTTCAGACGCAT	0.413										HNSCC(12;0.0054)			C	104955056	T	C	104955056	3	2	151	1	0	0	0	0	1	0	0	0	13368	1609	56	3	2783	3	RIMS2	8	104955056	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	18913639	104955056	41408966	121	81637											
ZFPM2	23414	broad.mit.edu	37	chr8	106813708	106813708	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaataaacaaagcttttcTtacacaaaaataaagtctga	3	7	2	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr8:106813708T>C	uc003ymd.2	+	8	1421	c.1398T>C	c.(1396-1398)TCT>TCC	p.S466S	ZFPM2_uc011lhs.1_Silent_p.S197S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	466					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAAGCTTTTCTTACACAAAAA	0.458													C	106813708	T	C	106813708	2	2	151	1	0	0	0	0	0	0	0	1	17655	1596	56	3		3	ZFPM2	8	106813708	Silent	SNP	T	TCGA-CD-8535-01A-11D-2340-08	1858652	106813708	39550314	122	81638											
PKHD1L1	93035	broad.mit.edu	37	chr8	110476639	110476639	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatattaagggaggagcattTtttatagaagatggtattga	12	1	0	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr8:110476639T>G	uc003yne.2	+	49	7682	c.7578T>G	c.(7576-7578)TTT>TTG	p.F2526L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2526	PbH1 1.|Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAGGAGCATTTTTTATAGAAG	0.388										HNSCC(38;0.096)			G	110476639	T	G	110476639	3	3	151	1	0	0	0	0	1	0	0	0	11972	1838	64	5	7772	5	PKHD1L1	8	110476639	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	3662931	110476639	35887383	123	81639											
CSMD3	114788	broad.mit.edu	37	chr8	113237068	113237068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcccttccactgactttgCgttggtgtcatacatgggat	9	11	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr8:113237068C>T	uc003ynu.2	-	71	11215	c.11056G>A	c.(11056-11058)GCA>ACA	p.A3686T	CSMD3_uc003yns.2_Missense_Mutation_p.A2888T|CSMD3_uc003ynt.2_Missense_Mutation_p.A3646T|CSMD3_uc011lhx.1_Missense_Mutation_p.A3517T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3686	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ACTGACTTTGCGTTGGTGTCA	0.443										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113237068	C	T	113237068	3	4	151	1	0	0	0	0	1	0	0	0	3946	768	27	1	71	1	CSMD3	8	113237068	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	2760429	113237068	33126954	124	81640											
CSMD3	114788	broad.mit.edu	37	chr8	113256779	113256779	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacatttgcatgagcaggagTttctggctgtttacagctgt	12	7	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr8:113256779T>A	uc003ynu.2	-	65	10405	c.10246A>T	c.(10246-10248)ACT>TCT	p.T3416S	CSMD3_uc003yns.2_Missense_Mutation_p.T2618S|CSMD3_uc003ynt.2_Missense_Mutation_p.T3376S|CSMD3_uc011lhx.1_Missense_Mutation_p.T3247S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3416	Extracellular (Potential).|Sushi 28.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TGAGCAGGAGTTTCTGGCTGT	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113256779	T	A	113256779	3	1	151	1	0	0	0	0	1	0	0	0	3946	1725	60	5	905	5	CSMD3	8	113256779	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	19711	113256779	33107243	125	81641											
ZFAT	57623	broad.mit.edu	37	chr8	135521911	135521911	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatggcaaccaccgaggcaAgggcagtggcgtcatgggtc	15	12	1	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr8:135521911A>G	uc003yup.2	-	15	3618	c.3443T>C	c.(3442-3444)CTT>CCT	p.L1148P	ZFAT_uc011ljj.1_Missense_Mutation_p.L267P|ZFAT_uc003yun.2_Missense_Mutation_p.L1136P|ZFAT_uc003yuo.2_Missense_Mutation_p.L1136P|ZFAT_uc010meh.2_Intron|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.L1136P|ZFAT_uc010mej.2_Missense_Mutation_p.L1086P	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	1148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CACCGAGGCAAGGGCAGTGGC	0.577													G	135521911	A	G	135521911	3	3	151	1	0	0	0	0	1	0	0	0	17629	72	3	3	296	3	ZFAT	8	135521911	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	22265132	135521911	10842111	126	81642											
FAM135B	51059	broad.mit.edu	37	chr8	139164740	139164740	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgctcttctgtgtgagagtCctttagggaagacctaatat	10	8	2	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr8:139164740C>A	uc003yuy.2	-	13	2149	c.1978G>T	c.(1978-1980)GAC>TAC	p.D660Y	FAM135B_uc003yux.2_Missense_Mutation_p.D561Y|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.D222Y|FAM135B_uc003yvb.2_Missense_Mutation_p.D222Y	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	660										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTGTGAGAGTCCTTTAGGGAA	0.493										HNSCC(54;0.14)			A	139164740	C	A	139164740	3	1	151	1	0	0	0	0	1	0	0	0	5449	855	30	5	2274	5	FAM135B	8	139164740	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	3642829	139164740	7199282	127	81643											
BAI1	575	broad.mit.edu	37	chr8	143569806	143569806	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcgggccacgggtgactGggccaaggtgccagaggaca	18	11	0	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr8:143569806G>A	uc003ywm.2	+	13	2573	c.2390G>A	c.(2389-2391)TGG>TAG	p.W797*		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	797	Extracellular (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACGGGTGACTGGGCCAAGGTG	0.637													A	143569806	G	A	143569806	4	1	151	1	0	0	0	0	0	1	0	0	1298	1357	47	4	2440	4	BAI1	8	143569806	Nonsense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	4405066	143569806	2794216	128	81644											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18829843	18829843	+	Splice_Site	DEL	C	C	-													ccctctgccttctcacagatCccccccaagtccccacacag							TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr9:18829842_18829842TC>T	uc003zne.4	+	23	4267	c.4115_splice	c.e23-1	p.D1372_splice	ADAMTSL1_uc003znf.4_Splice_Site_p.D73_splice	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1372						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCTCACAGATCCCCCCCAAG	0.567													-	18829843	C	-	18829843	8	5	151	1	0	1	0	1	0	0	1	0	274	855	30	0	4211	0	ADAMTSL1	9	18829843	Splice_Site	DEL	C	TCGA-CD-8535-01A-11D-2340-08		18829843	122383588	129	81645											
SPAG8	26206	broad.mit.edu	37	chr9	35811809	35811809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatgaactcagaacagggCgctggggtctttgtagataa	12	8	2	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr9:35811809C>T	uc003zye.2	-	2	349	c.234G>A	c.(232-234)GCG>GCA	p.A78A	SPAG8_uc003zyf.2_5'UTR|SPAG8_uc003zyg.2_Silent_p.A78A	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	sperm associated antigen 8 isoform 2	78						acrosomal vesicle|membrane				ovary(1)	1	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			CAGAACAGGGCGCTGGGGTCT	0.418													T	35811809	C	T	35811809	2	4	151	1	0	0	0	0	0	0	0	1	14984	755	27	1		1	SPAG8	9	35811809	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08	16981966	35811809	105401622	130	81646											
TRPM6	140803	broad.mit.edu	37	chr9	77454993	77454993	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgtctctgcagctttaAccaaaccttggctgaaaatc	7	11	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr9:77454993A>C	uc004ajl.1	-	5	729	c.491T>G	c.(490-492)GTT>GGT	p.V164G	TRPM6_uc004ajk.1_Missense_Mutation_p.V159G|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.V164G|TRPM6_uc010mpd.1_Missense_Mutation_p.V164G|TRPM6_uc010mpe.1_Missense_Mutation_p.V164G|TRPM6_uc004ajn.1_Missense_Mutation_p.V164G	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	164	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						TGCAGCTTTAACCAAACCTTG	0.348													C	77454993	A	C	77454993	3	2	151	1	0	0	0	0	1	0	0	0	16587	43	2	5	5717	5	TRPM6	9	77454993	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	41643184	77454993	63758438	131	81647											
AGTPBP1	23287	broad.mit.edu	37	chr9	88203282	88203282	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tataagattctcgtaagctcTgagcagtggggttattgctc	11	7	2	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr9:88203282T>G	uc011ltd.1	-	20	2867	c.2834A>C	c.(2833-2835)CAG>CCG	p.Q945P	AGTPBP1_uc004aod.3_Missense_Mutation_p.Q571P|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Missense_Mutation_p.Q905P|AGTPBP1_uc011lte.1_Missense_Mutation_p.Q957P	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	945					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						TCGTAAGCTCTGAGCAGTGGG	0.368													G	88203282	T	G	88203282	3	3	151	1	0	0	0	0	1	0	0	0	400	1580	55	5	870	5	AGTPBP1	9	88203282	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	10748289	88203282	53010149	132	81648											
S1PR3	1903	broad.mit.edu	37	chr9	91616715	91616715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagtacattgccttctgCatcagcatcttcacggccat	7	12	4	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr9:91616715C>T	uc004aqe.2	+	2	996	c.600C>T	c.(598-600)TGC>TGT	p.C200C		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	200	Helical; Name=5; (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						TTGCCTTCTGCATCAGCATCT	0.572											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	91616715	C	T	91616715	2	4	151	1	0	0	0	0	0	0	0	1	13795	718	25	2		2	S1PR3	9	91616715	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08	3413433	91616715	49596716	133	81649											
IPPK	64768	broad.mit.edu	37	chr9	95400381	95400381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcctgcccggcccttgtccGagccactcagcagcacccgt	10	19	1	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr9:95400381G>A	uc004asl.1	-	9	1095	c.818C>T	c.(817-819)TCG>TTG	p.S273L	IPPK_uc004ask.1_5'Flank	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	273					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			ovary(2)	2						GCCCTTGTCCGAGCCACTCAG	0.662													A	95400381	G	A	95400381	3	1	151	1	0	0	0	0	1	0	0	0	7801	1059	37	1	677	1	IPPK	9	95400381	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	3783666	95400381	45813050	134	81650											
ABCA1	19	broad.mit.edu	37	chr9	107645431	107645431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgagcatctgagaacaggcGagccacactgtaaagggtgc	13	11	1	1	rs141348278		TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr9:107645431G>A	uc004bcl.2	-	5	623	c.310C>T	c.(310-312)CGC>TGC	p.R104C	ABCA1_uc004bcm.2_Missense_Mutation_p.R44C	NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	104	Extracellular.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GAGAACAGGCGAGCCACACTG	0.483													A	107645431	G	A	107645431	3	1	151	1	0	0	0	0	1	0	0	0	28	1058	37	1	6659	1	ABCA1	9	107645431	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	12245050	107645431	33568000	135	81651											
PAPPA	5069	broad.mit.edu	37	chr9	118949686	118949686	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggccacctctggggaacaAgtgggtggcatattcagccc	14	11	2	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr9:118949686A>C	uc004bjn.2	+	2	1050	c.669A>C	c.(667-669)CAA>CAC	p.Q223H	PAPPA_uc011lxp.1_Missense_Mutation_p.Q16H|PAPPA_uc011lxq.1_Missense_Mutation_p.Q16H	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	223					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						CTGGGGAACAAGTGGGTGGCA	0.557													C	118949686	A	C	118949686	3	2	151	1	0	0	0	0	1	0	0	0	11432	69	3	5	675	5	PAPPA	9	118949686	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	11304255	118949686	22263745	136	81652											
ASTN2	23245	broad.mit.edu	37	chr9	119903754	119903754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctgagtcgcctcagctGctgctataaggtagcaatgg	11	11	2	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr9:119903754G>A	uc004bjs.1	-	4	1120	c.1019C>T	c.(1018-1020)GCA>GTA	p.A340V	ASTN2_uc004bjr.1_Missense_Mutation_p.A340V|ASTN2_uc004bjt.1_Intron	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	340	Cytoplasmic (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						CGCCTCAGCTGCTGCTATAAG	0.587													A	119903754	G	A	119903754	3	1	151	1	0	0	0	0	1	0	0	0	1065	1334	46	2		2	ASTN2	9	119903754	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	954068	119903754	21309677	137	81653											
ZNF79	7633	broad.mit.edu	37	chr9	130207312	130207313	+	Frame_Shift_Del	DEL	TA	TA	-													tccacaccggagaaaaacctTatgagtgtaatgagtgtggt							TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr9:130207311_130207312TTA>T	uc004bqw.4	+	4	1746_1747	c.1332_1333TTA>T	c.(1330-1335)ccttatfs	p.P444fs	ZNF79_uc011maf.2_Frame_Shift_Del_p.P420fs|ZNF79_uc011mag.2_Frame_Shift_Del_p.P420fs	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	Homo sapiens zinc finger protein 79 (ZNF79), mRNA.	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GAGAAAAACCTTATGAGTGTAA	0.46													-	130207313	TA	-	130207312	7	5	151	1	0	1	0	1	0	0	0	0	18158	1754	61	0	1351	0	ZNF79	9	130207312	Frame_Shift_Del	DEL	TA	TCGA-CD-8535-01A-11D-2340-08	10303558	130207312	11006119	138	81654											
NUP214	8021	broad.mit.edu	37	chr9	134015972	134015972	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctgctccagttctcaTgttactttcaacagatggtg	7	12	2	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr9:134015972T>C	uc004cag.2	+	11	1280	c.1169T>C	c.(1168-1170)ATG>ACG	p.M390T	NUP214_uc004cah.2_Missense_Mutation_p.M390T|NUP214_uc004caf.1_Missense_Mutation_p.M390T	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	390					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCAGTTCTCATGTTACTTTCA	0.373			T	DEK|SET|ABL1	AML|T-ALL								C	134015972	T	C	134015972	3	2	151	1	0	0	0	0	1	0	0	0	10762	1464	51	3	1211	3	NUP214	9	134015972	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	3808660	134015972	7197459	139	81655											
C9orf98	158067	broad.mit.edu	37	chr9	135742311	135742311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattgttgttttccctgaggCgggtggacctaatattacaa	10	7	0	1	rs115599655	by1000genomes	TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr9:135742311C>T	uc004cbu.1	-	3	755	c.199G>A	c.(199-201)GCC>ACC	p.A67T	C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_5'UTR	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	putative adenylate kinase-like protein C9orf98	67						cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)		TTCCCTGAGGCGGGTGGACCT	0.458													T	135742311	C	T	135742311	3	4	151	1	0	0	0	0	1	0	0	0	2509	768	27	1	1284	1	C9orf98	9	135742311	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	1726339	135742311	5471120	140	81656											
GTF3C5	9328	broad.mit.edu	37	chr9	135926199	135926199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaatccccccatctcagGtgagaatctgattggcctga	8	13	2	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr9:135926199G>A	uc004cci.3	+	4	939	c.602G>A	c.(601-603)GGT>GAT	p.G201D	GTF3C5_uc010mzz.2_Missense_Mutation_p.G76D|GTF3C5_uc004ccj.3_Missense_Mutation_p.G201D	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	201						transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		CCCATCTCAGGTGAGAATCTG	0.607													A	135926199	G	A	135926199	3	1	151	1	0	0	0	0	1	0	0	0	6876	1261	44	4	616	4	GTF3C5	9	135926199	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	183888	135926199	5287232	141	81657											
LARP4B	23185	broad.mit.edu	37	chr10	888940	888940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtcgaggttagccaccGttgtgattggcacatactgg	14	8	0	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr10:888940G>A	uc001ifs.1	-	6	619	c.578C>T	c.(577-579)ACG>ATG	p.T193M		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	193	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						GTTAGCCACCGTTGTGATTGG	0.378													A	888940	G	A	888940	3	1	151	1	0	0	0	0	1	0	0	0	8631	1145	40	1	1686	1	LARP4B	10	888940	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08		888940	134645807	142	81658											
ITIH5	80760	broad.mit.edu	37	chr10	7618705	7618705	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccccctctccatcgccTccaggcctggggcttcctgt	10	18	1	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr10:7618705T>G	uc001ijq.2	-	10	1768	c.1689A>C	c.(1687-1689)GGA>GGC	p.G563G	ITIH5_uc001ijp.2_Silent_p.G349G|ITIH5_uc001ijr.1_Silent_p.G563G	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	563					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						CTCCATCGCCTCCAGGCCTGG	0.572													G	7618705	T	G	7618705	2	3	151	1	0	0	0	0	0	0	0	1	7907	1538	54	5		5	ITIH5	10	7618705	Silent	SNP	T	TCGA-CD-8535-01A-11D-2340-08	6729765	7618705	127916042	143	81659											
PTF1A	256297	broad.mit.edu	37	chr10	23481522	23481522	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctttccttcttcgtacttCgacgaggacgacttcttcac	7	14	3	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr10:23481522C>T	uc001irp.2	+	1	63	c.63C>T	c.(61-63)TTC>TTT	p.F21F		NM_178161	NP_835455	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	21					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				pancreas(1)|skin(1)	2						CTTCGTACTTCGACGAGGACG	0.667													T	23481522	C	T	23481522	2	4	151	1	0	0	0	0	0	0	0	1	12740	883	31	1		1	PTF1A	10	23481522	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08	15862817	23481522	112053225	144	81660											
GPR158	57512	broad.mit.edu	37	chr10	25888082	25888082	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggtttgtccttgggagtTtgagaccccagctcaaccaa	11	10	1	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr10:25888082T>G	uc001isj.2	+	11	3587	c.3527T>G	c.(3526-3528)TTT>TGT	p.F1176C	GPR158_uc001isk.2_Missense_Mutation_p.F551C	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	1176	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						CCTTGGGAGTTTGAGACCCCA	0.453													G	25888082	T	G	25888082	3	3	151	1	0	0	0	0	1	0	0	0	6663	1841	64	5	3569	5	GPR158	10	25888082	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	2406560	25888082	109646665	145	81661											
MYO3A	53904	broad.mit.edu	37	chr10	26432425	26432425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctagagttattgaatatgagGataactggcccctcttagat	9	7	1	4			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr10:26432425G>A	uc001isn.2	+	21	2671	c.2311G>A	c.(2311-2313)GAT>AAT	p.D771N	MYO3A_uc009xko.1_Missense_Mutation_p.D771N|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	771	Myosin head-like.				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						TGAATATGAGGATAACTGGCC	0.358													A	26432425	G	A	26432425	3	1	151	1	0	0	0	0	1	0	0	0	10076	1174	41	4	2385	4	MYO3A	10	26432425	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	544343	26432425	109102322	146	81662											
ANK3	288	broad.mit.edu	37	chr10	61832206	61832206	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgacatttcagttctctgTtttttcacattatcagagcc	5	10	4	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr10:61832206T>G	uc001jky.2	-	37	8625	c.8433A>C	c.(8431-8433)AAA>AAC	p.K2811N	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2811					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CAGTTCTCTGTTTTTTCACAT	0.368													G	61832206	T	G	61832206	3	3	151	1	0	0	0	0	1	0	0	0	622	1722	60	5	5041	5	ANK3	10	61832206	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	35399781	61832206	73702541	147	81663											
ANK3	288	broad.mit.edu	37	chr10	61834976	61834976	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaagatggtgtagacaacTtaagggcagagggtgcaagg	16	4	0	4			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr10:61834976T>G	uc001jky.2	-	37	5855	c.5663A>C	c.(5662-5664)AAG>ACG	p.K1888T	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1888	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TGTAGACAACTTAAGGGCAGA	0.433													G	61834976	T	G	61834976	3	3	151	1	0	0	0	0	1	0	0	0	622	1609	56	5	7811	5	ANK3	10	61834976	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	2770	61834976	73699771	148	81664											
JMJD1C	221037	broad.mit.edu	37	chr10	64974609	64974609	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcttcttcatgttttttatCttcctgtatttgatcccagg	6	9	3	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr10:64974609C>T	uc001jmn.2	-	8	1618	c.1318G>A	c.(1318-1320)GAT>AAT	p.D440N	JMJD1C_uc001jml.2_Missense_Mutation_p.D221N|JMJD1C_uc001jmm.2_Missense_Mutation_p.D152N|JMJD1C_uc010qiq.1_Missense_Mutation_p.D258N|JMJD1C_uc009xpi.2_Missense_Mutation_p.D258N|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_Missense_Mutation_p.D152N	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	440					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGTTTTTTATCTTCCTGTATT	0.393													T	64974609	C	T	64974609	3	4	151	1	0	0	0	0	1	0	0	0	7950	913	32	4	6380	4	JMJD1C	10	64974609	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	3139633	64974609	70560138	149	81665											
CUZD1	50624	broad.mit.edu	37	chr10	124594423	124594423	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaaaagagccatgctggtgTtatatttgcccagtgcattt	9	8	0	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr10:124594423T>A	uc001lgq.2	-	7	1513	c.1181A>T	c.(1180-1182)AAC>ATC	p.N394I	CUZD1_uc001lgp.2_Missense_Mutation_p.N113I|CUZD1_uc009yad.2_Missense_Mutation_p.N113I|CUZD1_uc009yaf.2_Missense_Mutation_p.N28I|CUZD1_uc001lgr.2_Missense_Mutation_p.N113I|CUZD1_uc010qty.1_Missense_Mutation_p.N113I|CUZD1_uc009yae.2_Missense_Mutation_p.N113I|CUZD1_uc001lgs.2_Missense_Mutation_p.N394I|CUZD1_uc010qtz.1_Missense_Mutation_p.N394I	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1 precursor	394	Extracellular (Potential).|ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				ovary(1)|skin(1)	2		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CATGCTGGTGTTATATTTGCC	0.318													A	124594423	T	A	124594423	3	1	151	1	0	0	0	0	1	0	0	0	4066	1725	60	5	654	5	CUZD1	10	124594423	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	59619814	124594423	10940324	150	81666											
LRDD	55367	broad.mit.edu	37	chr11	799408	799408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctgtcctggtacttgcGgcggccgagctccaagactg	14	12	0	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:799408G>A	uc001lro.1	-	16	2774	c.2632C>T	c.(2632-2634)CGC>TGC	p.R878C	SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Missense_Mutation_p.R861C|LRDD_uc001lrl.1_Missense_Mutation_p.R721C|LRDD_uc001lrm.1_Missense_Mutation_p.R565C|LRDD_uc001lrn.1_Missense_Mutation_p.R721C|LRDD_uc001lrp.1_3'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing	878					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGTACTTGCGGCGGCCGAGC	0.701													A	799408	G	A	799408	3	1	151	1	0	0	0	0	1	0	0	0	8936	1116	39	1	104	1	LRDD	11	799408	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08		799408	134207108	151	81667											
OR51F1	256892	broad.mit.edu	37	chr11	4790367	4790367	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatagcgatacaccaaggAcaggctcagcatgtggatgt	11	10	1	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:4790367A>G	uc010qyl.1	-	1	781	c.781T>C	c.(781-783)TCC>CCC	p.S261P		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F,	261						integral to membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TACACCAAGGACAGGCTCAGC	0.522													G	4790367	A	G	4790367	3	3	151	1	0	0	0	0	1	0	0	0	11096	275	10	3	160	3	OR51F1	11	4790367	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	3990959	4790367	130216149	152	81668											
OR51S1	119692	broad.mit.edu	37	chr11	4869842	4869842	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaggctgcaccccaagcTtctgggcaggccaaacgagc	12	14	1	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:4869842T>C	uc010qyo.1	-	1	597	c.597A>G	c.(595-597)GAA>GAG	p.E199E		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	199	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCCCAAGCTTCTGGGCAGG	0.542													C	4869842	T	C	4869842	2	2	151	1	0	0	0	0	0	0	0	1	11105	1606	56	3		3	OR51S1	11	4869842	Silent	SNP	T	TCGA-CD-8535-01A-11D-2340-08	79475	4869842	130136674	153	81669											
OR51G1	79324	broad.mit.edu	37	chr11	4945136	4945136	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcactgagcttagccccatcTtgacaatacatgcaggtgtc	9	12	1	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:4945136T>A	uc010qyr.1	-	1	434	c.434A>T	c.(433-435)AAG>ATG	p.K145M		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAGCCCCATCTTGACAATACA	0.532													A	4945136	T	A	4945136	3	1	151	1	0	0	0	0	1	0	0	0	11098	1609	56	5	533	5	OR51G1	11	4945136	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	75294	4945136	130061380	154	81670											
OR51A4	401666	broad.mit.edu	37	chr11	4967541	4967541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagacatgccgggcaaagcGgtggacaacggccaggttga	16	9	0	2	rs147925897	byFrequency	TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:4967541G>A	uc010qys.1	-	1	790	c.790C>T	c.(790-792)CGC>TGC	p.R264C		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGGGCAAAGCGGTGGACAACG	0.458													A	4967541	G	A	4967541	3	1	151	1	0	0	0	0	1	0	0	0	11087	1116	39	1	153	1	OR51A4	11	4967541	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	22405	4967541	130038975	155	81671											
OR52H1	390067	broad.mit.edu	37	chr11	5565929	5565929	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgtggaaggtgcgagagacAttgtgtccaaagcgatgggc	16	6	0	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:5565929A>T	uc010qzh.1	-	1	825	c.825T>A	c.(823-825)AAT>AAA	p.N275K	HBG2_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H,	275	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCGAGAGACATTGTGTCCAA	0.493													T	5565929	A	T	5565929	3	4	151	1	0	0	0	0	1	0	0	0	11119	214	8	5	140	5	OR52H1	11	5565929	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	598388	5565929	129440587	156	81672											
OR10A3	26496	broad.mit.edu	37	chr11	7960149	7960149	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtaaaatcacttttcTtcgccatagttttatcaaag	6	7	3	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:7960149T>G	uc010rbi.1	-	1	919	c.919A>C	c.(919-921)AGA>CGA	p.R307R		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A,	307	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATCACTTTTCTTCGCCATAGT	0.393													G	7960149	T	G	7960149	2	3	151	1	0	0	0	0	0	0	0	1	10891	1617	56	5		5	OR10A3	11	7960149	Silent	SNP	T	TCGA-CD-8535-01A-11D-2340-08	2394220	7960149	127046367	157	81673											
OR4A47	403253	broad.mit.edu	37	chr11	48511002	48511002	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatctcttatggtgtcatcTtgcactctttaaagaacctt	5	10	5	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:48511002T>G	uc010rhx.1	+	1	658	c.658T>G	c.(658-660)TTG>GTG	p.L220V		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	220	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGGTGTCATCTTGCACTCTTT	0.463													G	48511002	T	G	48511002	3	3	151	1	0	0	0	0	1	0	0	0	11042	1606	56	5	660	5	OR4A47	11	48511002	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	40550853	48511002	86495514	158	81674											
OR4A5	81318	broad.mit.edu	37	chr11	51412307	51412307	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcaccaagtatgtgagtAaaaacatgacaaataatgct	7	7	1	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:51412307A>T	uc001nhi.1	-	1	89	c.89T>A	c.(88-90)TTA>TAA	p.L30*		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				GTATGTGAGTAAAAACATGAC	0.423													T	51412307	A	T	51412307	4	4	151	1	0	0	0	0	0	1	0	0	11043	372	13	5	862	5	OR4A5	11	51412307	Nonsense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	2901305	51412307	83594209	159	81675											
OR4P4	81300	broad.mit.edu	37	chr11	55406423	55406423	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acacatgataggtctcttagTcattgctaattcaggcttaa	7	8	3	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:55406423T>G	uc010rij.1	+	1	590	c.590T>G	c.(589-591)GTC>GGC	p.V197G		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P,	197	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						GGTCTCTTAGTCATTGCTAAT	0.368													G	55406423	T	G	55406423	3	3	151	1	0	0	0	0	1	0	0	0	11080	1667	58	5	592	5	OR4P4	11	55406423	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	3994116	55406423	79600093	160	81676											
OR5D14	219436	broad.mit.edu	37	chr11	55563048	55563048	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattatgatgatggttttaaGgaatctgagcatggagccca	11	5	1	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:55563048G>T	uc010rim.1	+	1	17	c.17G>T	c.(16-18)AGG>ATG	p.R6M		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	6	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)				ATGGTTTTAAGGAATCTGAGC	0.393													T	55563048	G	T	55563048	3	4	151	1	0	0	0	0	1	0	0	0	11155	1000	35	5	19	5	OR5D14	11	55563048	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	156625	55563048	79443468	161	81677											
OR8J3	81168	broad.mit.edu	37	chr11	55904446	55904446	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atagcattgtcccatagaaaAccgtgactgctatcatatgc	7	10	1	2	rs146359186	by1000genomes	TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:55904446A>C	uc010riz.1	-	1	749	c.749T>G	c.(748-750)GTT>GGT	p.V250G		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	250	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					CCCATAGAAAACCGTGACTGC	0.403													C	55904446	A	C	55904446	3	2	151	1	0	0	0	0	1	0	0	0	11242	43	2	5	200	5	OR8J3	11	55904446	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	341398	55904446	79102070	162	81678											
OR8K1	390157	broad.mit.edu	37	chr11	56113874	56113874	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatctctgagctctttatTctatcagcaatggcctatga	6	10	5	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:56113874T>G	uc010rjg.1	+	1	360	c.360T>G	c.(358-360)ATT>ATG	p.I120M		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K,	120	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					AGCTCTTTATTCTATCAGCAA	0.393										HNSCC(65;0.19)			G	56113874	T	G	56113874	3	3	151	1	0	0	0	0	1	0	0	0	11243	1771	62	5	362	5	OR8K1	11	56113874	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	209428	56113874	78892642	163	81679											
P2RX3	5024	broad.mit.edu	37	chr11	57114108	57114108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagggctccggactctaCgccaacagagtcatggatgt	13	10	2	2	rs149738072		TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:57114108C>T	uc001nju.2	+	2	286	c.210C>T	c.(208-210)TAC>TAT	p.Y70Y		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	70	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						CCGGACTCTACGCCAACAGAG	0.572													T	57114108	C	T	57114108	2	4	151	1	0	0	0	0	0	0	0	1	11341	547	19	1		1	P2RX3	11	57114108	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08	1000234	57114108	77892408	164	81680											
AHNAK	79026	broad.mit.edu	37	chr11	62287621	62287621	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacttttgggcccttgatGtcagcttctgggcccttgag	11	12	2	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:62287621G>A	uc001ntl.2	-	5	14568	c.14268C>T	c.(14266-14268)GAC>GAT	p.D4756D	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4756					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GGCCCTTGATGTCAGCTTCTG	0.502													A	62287621	G	A	62287621	2	1	151	1	0	0	0	0	0	0	0	1	414	1368	48	4		4	AHNAK	11	62287621	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	5173513	62287621	72718895	165	81681											
CCDC88B	283234	broad.mit.edu	37	chr11	64109148	64109148	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctggcacctgccgagctggaGatgctgtcccggagcctgat	14	13	0	2	rs139000172		TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:64109148G>A	uc001nzy.2	+	7	653	c.609G>A	c.(607-609)GAG>GAA	p.E203E	CCDC88B_uc009ypo.1_Silent_p.E200E|CCDC88B_uc001nzz.1_5'Flank	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88	203					microtubule cytoskeleton organization	cytoplasm	microtubule binding			ovary(3)|skin(1)	4						CCGAGCTGGAGATGCTGTCCC	0.692													A	64109148	G	A	64109148	2	1	151	1	0	0	0	0	0	0	0	1	2864	933	33	4		4	CCDC88B	11	64109148	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	1821527	64109148	70897368	166	81682											
MAP4K2	5871	broad.mit.edu	37	chr11	64564487	64564487	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gttggggggagcccgtggcaGgatgacctctgggagggagg	22	7	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:64564487G>C	uc001obh.2	-	20	1466	c.1374C>G	c.(1372-1374)TCC>TCG	p.S458S	MAP4K2_uc001obg.2_5'Flank|MAP4K2_uc001obi.2_Silent_p.S450S	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	458					activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2						GCCCGTGGCAGGATGACCTCT	0.637													C	64564487	G	C	64564487	2	2	151	1	0	0	0	0	0	0	0	1	9260	987	35	5		5	MAP4K2	11	64564487	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	455339	64564487	70442029	167	81683											
NUMA1	4926	broad.mit.edu	37	chr11	71733400	71733400	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttacctgaattttatattcAaactgttcccagtccctggg	6	11	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:71733400A>T	uc001orl.1	-	7	529	c.357T>A	c.(355-357)TTT>TTA	p.F119L	NUMA1_uc001ork.1_Missense_Mutation_p.F119L|NUMA1_uc001orm.1_Missense_Mutation_p.F119L|NUMA1_uc009ysx.1_Missense_Mutation_p.F119L|NUMA1_uc001oro.1_Missense_Mutation_p.F119L|NUMA1_uc009ysy.1_Missense_Mutation_p.F119L|NUMA1_uc001orp.2_Missense_Mutation_p.F119L|NUMA1_uc001orq.2_Missense_Mutation_p.F119L	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	119					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						TTTTATATTCAAACTGTTCCC	0.493			T	RARA	APL								T	71733400	A	T	71733400	3	4	151	1	0	0	0	0	1	0	0	0	10750	127	5	5	6074	5	NUMA1	11	71733400	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	7168913	71733400	63273116	168	81684											
USP35	57558	broad.mit.edu	37	chr11	77921035	77921035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggagaaagaggaggagGtggaagaggaagaagagaag	21	0	0	6			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:77921035G>A	uc009yva.1	+	10	2380	c.2134G>A	c.(2134-2136)GTG>ATG	p.V712M	USP35_uc001oze.2_Missense_Mutation_p.V468M|USP35_uc001ozc.2_Missense_Mutation_p.V280M|USP35_uc010rsp.1_Missense_Mutation_p.V144M|USP35_uc001ozd.2_Missense_Mutation_p.V323M|USP35_uc001ozf.2_Missense_Mutation_p.V443M	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	712					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			agaggaggaggtggaagagga	0.124													A	77921035	G	A	77921035	3	1	151	1	0	0	0	0	1	0	0	0	17063	1261	44	4	2168	4	USP35	11	77921035	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	6187635	77921035	57085481	169	81685											
PICALM	8301	broad.mit.edu	37	chr11	85712081	85712081	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatgcacaaacttaccttTaaagctttcaaacgtgcctg	6	10	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:85712081T>C	uc001pbm.2	-	10	1300	c.1014A>G	c.(1012-1014)TTA>TTG	p.L338L	PICALM_uc001pbl.2_Silent_p.L338L|PICALM_uc001pbn.2_Silent_p.L338L|PICALM_uc010rtl.1_Silent_p.L287L|PICALM_uc010rtk.1_5'UTR|PICALM_uc001pbo.1_5'UTR	NM_007166	NP_009097	Q13492	PICAL_HUMAN	phosphatidylinositol-binding clathrin assembly	338					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			urinary_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				AACTTACCTTTAAAGCTTTCA	0.428			T	MLLT10|MLL	TALL|AML|								C	85712081	T	C	85712081	2	2	151	1	0	0	0	0	0	0	0	1	11880	1751	61	3		3	PICALM	11	85712081	Silent	SNP	T	TCGA-CD-8535-01A-11D-2340-08	7791046	85712081	49294435	170	81686											
GRM5	2915	broad.mit.edu	37	chr11	88781002	88781002	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactcccacggacatcttcTttcaaaagtaagactgacag	7	12	3	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:88781002T>C	uc001pcq.2	-	1	239	c.39A>G	c.(37-39)AAA>AAG	p.K13K	GRM5_uc009yvm.2_Silent_p.K13K|GRM5_uc009yvn.1_Silent_p.K13K	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	13					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GGACATCTTCTTTCAAAAGTA	0.473													C	88781002	T	C	88781002	2	2	151	1	0	0	0	0	0	0	0	1	6800	1606	56	3		3	GRM5	11	88781002	Silent	SNP	T	TCGA-CD-8535-01A-11D-2340-08	3068921	88781002	46225514	171	81687											
PGR	5241	broad.mit.edu	37	chr11	100999459	100999459	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcgccaacagagtgtccaAgacactgtccagcagtccgc	12	14	0	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:100999459A>G	uc001pgh.2	-	1	1086	c.343T>C	c.(343-345)TTG>CTG	p.L115L	PGR_uc001pgi.2_Silent_p.L115L|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	115	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	AGAGTGTCCAAGACACTGTCC	0.627													G	100999459	A	G	100999459	2	3	151	1	0	0	0	0	0	0	0	1	11805	69	3	3		3	PGR	11	100999459	Silent	SNP	A	TCGA-CD-8535-01A-11D-2340-08	12218457	100999459	34007057	172	81688											
DDI1	414301	broad.mit.edu	37	chr11	103908222	103908222	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccggcagcaaaacattgaAgaaaacatgaatatagcgat	8	7	0	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:103908222A>G	uc001phr.2	+	1	915	c.672A>G	c.(670-672)GAA>GAG	p.E224E	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	224					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AAAACATTGAAGAAAACATGA	0.478													G	103908222	A	G	103908222	2	3	151	1	0	0	0	0	0	0	0	1	4328	69	3	3		3	DDI1	11	103908222	Silent	SNP	A	TCGA-CD-8535-01A-11D-2340-08	2908763	103908222	31098294	173	81689											
RDX	5962	broad.mit.edu	37	chr11	110126036	110126036	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctttttgtcgattggcTttataacaaattttttgtca	7	6	1	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:110126036T>G	uc001pku.2	-	8	1083	c.773A>C	c.(772-774)AAG>ACG	p.K258T	RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Missense_Mutation_p.K258T|RDX_uc009yxz.2_Intron|RDX_uc009yya.2_Intron|RDX_uc010rwe.1_Missense_Mutation_p.K122T	NM_002906	NP_002897	P35241	RADI_HUMAN	radixin	258	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding				0		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTCGATTGGCTTTATAACAAA	0.284													G	110126036	T	G	110126036	3	3	151	1	0	0	0	0	1	0	0	0	13198	1609	56	5	1006	5	RDX	11	110126036	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	6217814	110126036	24880480	174	81690											
ZBTB16	7704	broad.mit.edu	37	chr11	113934258	113934258	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggacttcctctcgccaaagaCcttccagcagattctggagt	9	13	2	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:113934258C>G	uc001pop.2	+	2	500	c.236C>G	c.(235-237)ACC>AGC	p.T79S	ZBTB16_uc001poo.1_Missense_Mutation_p.T79S|ZBTB16_uc001poq.2_Missense_Mutation_p.T79S	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	79	BTB.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TCGCCAAAGACCTTCCAGCAG	0.557													G	113934258	C	G	113934258	3	3	151	1	0	0	0	0	1	0	0	0	17523	507	18	5	238	5	ZBTB16	11	113934258	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	3808222	113934258	21072258	175	81691											
PHLDB1	23187	broad.mit.edu	37	chr11	118509945	118509945	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagggggcaggcctttcccGaagaccacatcgaccctcaa	10	15	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:118509945G>A	uc001ptr.1	+	13	3065	c.2712G>A	c.(2710-2712)CCG>CCA	p.P904P	PHLDB1_uc001pts.2_Silent_p.P904P|PHLDB1_uc001ptt.2_Silent_p.P904P|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Silent_p.P704P|PHLDB1_uc001ptw.1_Silent_p.P306P|PHLDB1_uc009zai.1_5'UTR|PHLDB1_uc001ptx.1_5'UTR|PHLDB1_uc010ryi.1_5'Flank|PHLDB1_uc010ryj.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	904											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGCCTTTCCCGAAGACCACAT	0.552													A	118509945	G	A	118509945	2	1	151	1	0	0	0	0	0	0	0	1	11851	1045	37	1		1	PHLDB1	11	118509945	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	4575687	118509945	16496571	176	81692											
GRAMD1B	57476	broad.mit.edu	37	chr11	123477446	123477446	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaactccccttcactggacTtcaatgacaatgaggacatc	7	12	2	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:123477446T>G	uc001pyx.2	+	10	1353	c.1024T>G	c.(1024-1026)TTC>GTC	p.F342V	GRAMD1B_uc001pyw.2_Missense_Mutation_p.F349V|GRAMD1B_uc010rzw.1_Missense_Mutation_p.F302V|GRAMD1B_uc010rzx.1_Missense_Mutation_p.F302V|GRAMD1B_uc009zbe.1_Missense_Mutation_p.F338V|GRAMD1B_uc001pyy.2_5'Flank	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	342						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TTCACTGGACTTCAATGACAA	0.537													G	123477446	T	G	123477446	3	3	151	1	0	0	0	0	1	0	0	0	6748	1609	56	5	1062	5	GRAMD1B	11	123477446	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	4967501	123477446	11529070	177	81693											
OR6M1	390261	broad.mit.edu	37	chr11	123676403	123676403	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatacgcaggatggtagaaaTtatgtacacgtaggacccag	12	7	0	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:123676403T>G	uc010rzz.1	-	1	655	c.655A>C	c.(655-657)ATT>CTT	p.I219L		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M,	219	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		ATGGTAGAAATTATGTACACG	0.488													G	123676403	T	G	123676403	3	3	151	1	0	0	0	0	1	0	0	0	11205	1493	52	5	289	5	OR6M1	11	123676403	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	198957	123676403	11330113	178	81694											
OR10G8	219869	broad.mit.edu	37	chr11	123900377	123900377	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcctcatgggccttccCcatgccccagcgctggacgc	9	18	2	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:123900377C>T	uc001pzp.1	+	1	48	c.48C>T	c.(46-48)CCC>CCT	p.P16P		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	16	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGGGCCTTCCCCATGCCCCAG	0.577													T	123900377	C	T	123900377	2	4	151	1	0	0	0	0	0	0	0	1	10903	610	22	4		4	OR10G8	11	123900377	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08	223974	123900377	11106139	179	81695											
NTM	50863	broad.mit.edu	37	chr11	132016335	132016335	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaacgtggatgtgtatgaCgagggcccttacacctgctc	12	11	0	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:132016335C>T	uc001qgp.2	+	2	991	c.327C>T	c.(325-327)GAC>GAT	p.D109D	NTM_uc001qgm.2_Silent_p.D109D|NTM_uc010sch.1_Silent_p.D100D|NTM_uc010sci.1_Silent_p.D109D|NTM_uc010scj.1_Silent_p.D68D|NTM_uc001qgo.2_Silent_p.D109D|NTM_uc001qgq.2_Silent_p.D109D	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	109	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						ATGTGTATGACGAGGGCCCTT	0.577													T	132016335	C	T	132016335	2	4	151	1	0	0	0	0	0	0	0	1	10699	535	19	1		1	NTM	11	132016335	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08	8115958	132016335	2990181	180	81696											
THYN1	29087	broad.mit.edu	37	chr11	134121176	134121176	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctgagttctcagtttTggtgcgttttcctgatagtc	9	10	2	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr11:134121176T>G	uc001qhf.2	-	3	172	c.70A>C	c.(70-72)AAA>CAA	p.K24Q	THYN1_uc001qhg.2_Missense_Mutation_p.K24Q|THYN1_uc001qhh.2_Missense_Mutation_p.K24Q|THYN1_uc001qhi.2_Missense_Mutation_p.K24Q|THYN1_uc001qhj.2_Missense_Mutation_p.K24Q|THYN1_uc009zdb.2_Missense_Mutation_p.K24Q|ACAD8_uc009zdc.2_5'Flank|ACAD8_uc010sco.1_5'Flank|ACAD8_uc010scp.1_5'Flank|ACAD8_uc010scq.1_5'Flank|ACAD8_uc001qhk.2_5'Flank|ACAD8_uc001qhl.2_5'Flank	NM_001037305	NP_001032382	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1 isoform 1	24						nucleus					0	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		TTCTCAGTTTTGGTGCGTTTT	0.358													G	134121176	T	G	134121176	3	3	151	1	0	0	0	0	1	0	0	0	15883	1821	63	5	631	5	THYN1	11	134121176	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	2104841	134121176	885340	181	81697											
SLCO1C1	53919	broad.mit.edu	37	chr12	20854340	20854340	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcactcagatagagagaaGgtttgatatcccttcttcac	7	10	4	4			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr12:20854340G>T	uc001rej.3	+	4	573	c.218G>T	c.(217-219)AGG>ATG	p.R73M	SLCO1C1_uc010sii.1_Missense_Mutation_p.R73M|SLCO1C1_uc010sij.1_Missense_Mutation_p.R73M|SLCO1C1_uc009zip.2_Intron|SLCO1C1_uc001rei.2_Missense_Mutation_p.R73M|SLCO1C1_uc010sik.1_Intron	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	73	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					ATAGAGAGAAGGTTTGATATC	0.398													T	20854340	G	T	20854340	3	4	151	1	0	0	0	0	1	0	0	0	14725	1000	35	5	224	5	SLCO1C1	12	20854340	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08		20854340	112997555	182	81698											
SLCO1B1	10599	broad.mit.edu	37	chr12	21370153	21370153	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgatgcttgtacaaggaAattttacttttttgttgcaa	8	4	0	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr12:21370153A>C	uc001req.3	+	12	1702	c.1598A>C	c.(1597-1599)AAA>ACA	p.K533T		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	533	Extracellular (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TGTACAAGGAAATTTTACTTT	0.373													C	21370153	A	C	21370153	3	2	151	1	0	0	0	0	1	0	0	0	14723	14	1	5	1640	5	SLCO1B1	12	21370153	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	515813	21370153	112481742	183	81699											
ABCC9	10060	broad.mit.edu	37	chr12	22047092	22047092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgtttccactggcatacGcatgggtcacaaatgtctgt	10	9	2	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr12:22047092G>A	uc001rfi.1	-	12	1696	c.1676C>T	c.(1675-1677)GCG>GTG	p.A559V	ABCC9_uc001rfh.2_Missense_Mutation_p.A559V|ABCC9_uc001rfj.1_Missense_Mutation_p.A559V	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	559	Extracellular (Potential).|ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACTGGCATACGCATGGGTCAC	0.463													A	22047092	G	A	22047092	3	1	151	1	0	0	0	0	1	0	0	0	59	1087	38	1	3223	1	ABCC9	12	22047092	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	676939	22047092	111804803	184	81700											
KRAS	3845	broad.mit.edu	37	chr12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggcactcttgcctacgCcaccagctccaactaccaca	5	18	2	0	rs112445441		TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr12:25398281C>T	uc001rgp.1	-	2	219	c.38G>A	c.(37-39)GGC>GAC	p.G13D	KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	13	GTP.		G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).|G -> D (in a breast carcinoma cell line and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13D(2647)|p.G13C(182)|p.G13S(58)|p.G13R(41)|p.G13V(27)|p.G13A(24)|p.G13G(11)|p.G13E(4)|p.G12_G13insG(4)|p.G13N(3)|p.G13I(1)|p.G13_V14>DI(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(NCIH647_LUNG)|G13D(MDAMB231_BREAST)|G13D(NCIH747_LARGE_INTESTINE)|G13D(T84_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT15_LARGE_INTESTINE)|G13D(HCT116_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25398281	C	T	25398281	3	4	151	1	0	0	0	0	1	0	0	0	8438	739	26	2	668	2	KRAS	12	25398281	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	3351189	25398281	108453614	185	81701											
SFRS2IP	9169	broad.mit.edu	37	chr12	46355485	46355485	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttaatgtgtcagacttacctCtgcccatttaagaatacaag	6	9	2	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr12:46355485C>T	uc001rox.2	-	3	504	c.217G>A	c.(217-219)GAG>AAG	p.E73K	SFRS2IP_uc001roy.1_Missense_Mutation_p.E137K|SFRS2IP_uc009zki.1_RNA|SFRS2IP_uc001roz.2_Missense_Mutation_p.E73K	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	73	RING-type; degenerate.				spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		AGACTTACCTCTGCCCATTTA	0.323													T	46355485	C	T	46355485	3	4	151	1	0	0	0	0	1	0	0	0	14177	922	32	4	4226	4	SFRS2IP	12	46355485	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	20957204	46355485	87496410	186	81702											
KIAA0748	9840	broad.mit.edu	37	chr12	55360985	55360985	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accctccgctcccagggtcaAgtcatcttcaaagctggtcc	8	16	4	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr12:55360985A>T	uc001sgn.3	-	5	402	c.292T>A	c.(292-294)TTG>ATG	p.L98M	KIAA0748_uc001sgl.3_Translation_Start_Site|KIAA0748_uc001sgm.3_Translation_Start_Site|KIAA0748_uc010spb.1_Translation_Start_Site|KIAA0748_uc010spc.1_Translation_Start_Site|KIAA0748_uc010spd.1_Missense_Mutation_p.L98M|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	98										ovary(1)|central_nervous_system(1)	2						CCCAGGGTCAAGTCATCTTCA	0.468													T	55360985	A	T	55360985	3	4	151	1	0	0	0	0	1	0	0	0	8190	69	3	5	1297	5	KIAA0748	12	55360985	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	9005500	55360985	78490910	187	81703											
IKZF4	64375	broad.mit.edu	37	chr12	56415326	56415326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttccaaggcggcggccgcGttcgcaccccagggtctcac	13	16	1	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr12:56415326G>A	uc001sjb.1	+	2	208	c.49G>A	c.(49-51)GTT>ATT	p.V17I	IKZF4_uc010sqa.1_Intron|IKZF4_uc001sjc.1_Missense_Mutation_p.V17I|IKZF4_uc001sjd.1_5'UTR|IKZF4_uc009zoi.1_Intron	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	zinc finger protein, subfamily 1A, 4	17					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CGGCGGCCGCGTTCGCACCCC	0.647													A	56415326	G	A	56415326	3	1	151	1	0	0	0	0	1	0	0	0	7617	1145	40	1	51	1	IKZF4	12	56415326	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	1054341	56415326	77436569	188	81704											
CAPS2	84698	broad.mit.edu	37	chr12	75698628	75698628	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctttttgctcaatggctaAattttgctctggatcactga	7	8	4	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr12:75698628A>C	uc001sxk.3	-	9	942	c.745T>G	c.(745-747)TTA>GTA	p.L249V	CAPS2_uc001sxm.3_Missense_Mutation_p.L17V|CAPS2_uc009zsa.2_Translation_Start_Site|CAPS2_uc001sxi.3_Missense_Mutation_p.L17V|CAPS2_uc001sxj.3_Missense_Mutation_p.L192V|CAPS2_uc001sxl.3_Missense_Mutation_p.L230V	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	249							calcium ion binding			ovary(2)	2						TCAATGGCTAAATTTTGCTCT	0.313													C	75698628	A	C	75698628	3	2	151	1	0	0	0	0	1	0	0	0	2638	11	1	5	968	5	CAPS2	12	75698628	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	19283302	75698628	58153267	189	81705											
NAV3	89795	broad.mit.edu	37	chr12	78443823	78443823	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttaaaaacatagcagacTtgaggcagaatttagaagag	10	5	0	5			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr12:78443823T>C	uc001syp.2	+	10	2247	c.2074T>C	c.(2074-2076)TTG>CTG	p.L692L	NAV3_uc001syo.2_Silent_p.L692L|NAV3_uc010sub.1_Silent_p.L192L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	692	Potential.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CATAGCAGACTTGAGGCAGAA	0.348										HNSCC(70;0.22)			C	78443823	T	C	78443823	2	2	151	1	0	0	0	0	0	0	0	1	10185	1606	56	3		3	NAV3	12	78443823	Silent	SNP	T	TCGA-CD-8535-01A-11D-2340-08	2745195	78443823	55408072	190	81706											
C12orf50	160419	broad.mit.edu	37	chr12	88383059	88383059	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctttagtatttgaacattTtgatatggtgatttctttct	6	5	2	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr12:88383059T>G	uc001tam.1	-	8	850	c.682A>C	c.(682-684)AAA>CAA	p.K228Q	C12orf50_uc001tan.2_Missense_Mutation_p.K282Q	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	228										skin(2)|ovary(1)	3						TTTGAACATTTTGATATGGTG	0.313													G	88383059	T	G	88383059	3	3	151	1	0	0	0	0	1	0	0	0	1695	1850	64	5	586	5	C12orf50	12	88383059	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	9939236	88383059	45468836	191	81707											
KSR2	283455	broad.mit.edu	37	chr12	118198972	118198972	+	Frame_Shift_Del	DEL	G	G	-													tgttcttcttcctcatgggcGgcgtgcccggcggggtcacg							TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr12:118198972delG	uc001two.2	-	4	798	c.743delC	c.(742-744)CCGfs	p.P248fs		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	277	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCATGGGCGGCGTGCCCGG	0.706													-	118198972	G	-	118198972	7	5	151	1	0	1	0	1	0	0	0	0	8582	1116	39	0	2090	0	KSR2	12	118198972	Frame_Shift_Del	DEL	G	TCGA-CD-8535-01A-11D-2340-08	29815913	118198972	15652923	192	81708											
FGF9	2254	broad.mit.edu	37	chr13	22245965	22245965	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgcaactgcagtaagggaGgggagttggatatacctcgc	14	8	1	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr13:22245965G>T	uc001uog.2	+	1	751	c.-86G>T	c.(-88--84)GAGGG>GATGG			NM_002010	NP_002001	P31371	FGF9_HUMAN	fibroblast growth factor 9 precursor						cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding				0		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		CAGTAAGGGAGGGGAGTTGGA	0.423													T	22245965	G	T	22245965	1	4	151	1	0	0	0	0	0	0	0	0	5859	1015	35	5		5	FGF9	13	22245965	Translation_Start_Site	SNP	G	TCGA-CD-8535-01A-11D-2340-08		22245965	92923913	193	81709											
FRY	10129	broad.mit.edu	37	chr13	32699009	32699009	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattggagtgttggcacaagCcaagtaagtgaatgccagaa	12	7	0	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr13:32699009C>A	uc001utx.2	+	7	1209	c.713C>A	c.(712-714)GCC>GAC	p.A238D	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTGGCACAAGCCAAGTAAGTG	0.458													A	32699009	C	A	32699009	3	1	151	1	0	0	0	0	1	0	0	0	6063	739	26	5	739	5	FRY	13	32699009	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	10453044	32699009	82470869	194	81710											
SMAD9	4093	broad.mit.edu	37	chr13	37439801	37439801	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctatgagcacacttcgggaGgaagcctggaatgtctcccc	11	12	2	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr13:37439801G>A	uc001uvw.2	-	5	1219	c.876C>T	c.(874-876)TCC>TCT	p.S292S	SMAD9_uc001uvx.2_Silent_p.S255S|SMAD9_uc010tep.1_Silent_p.S85S	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	292	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		CACTTCGGGAGGAAGCCTGGA	0.483													A	37439801	G	A	37439801	2	1	151	1	0	0	0	0	0	0	0	1	14764	987	35	4		4	SMAD9	13	37439801	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	4740792	37439801	77730077	195	81711											
POSTN	10631	broad.mit.edu	37	chr13	38158997	38158997	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtatttccttccagcgtctCaaagactgctcctcccataa	5	14	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr13:38158997C>T	uc001uwo.3	-	8	1082	c.964G>A	c.(964-966)GAG>AAG	p.E322K	POSTN_uc001uwp.3_Missense_Mutation_p.E322K|POSTN_uc001uwr.2_Missense_Mutation_p.E322K|POSTN_uc001uwq.2_Missense_Mutation_p.E322K|POSTN_uc010teu.1_Missense_Mutation_p.E322K|POSTN_uc010tev.1_Missense_Mutation_p.E322K|POSTN_uc010tew.1_Missense_Mutation_p.E322K|POSTN_uc010tex.1_Missense_Mutation_p.E237K	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	322	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TCCAGCGTCTCAAAGACTGCT	0.373													T	38158997	C	T	38158997	3	4	151	1	0	0	0	0	1	0	0	0	12259	835	29	4	1610	4	POSTN	13	38158997	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	719196	38158997	77010881	196	81712											
SPERT	220082	broad.mit.edu	37	chr13	46287490	46287490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgccccatgtcccaggcCgacctggagctggactacaa	12	15	0	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr13:46287490C>T	uc001van.1	+	3	410	c.330C>T	c.(328-330)GCC>GCT	p.A110A	SPERT_uc001vao.2_Silent_p.A74A	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	110						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		TGTCCCAGGCCGACCTGGAGC	0.647													T	46287490	C	T	46287490	2	4	151	1	0	0	0	0	0	0	0	1	15038	639	23	1		1	SPERT	13	46287490	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08	8128493	46287490	68882388	197	81713											
HTR2A	3356	broad.mit.edu	37	chr13	47409677	47409677	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaaatgacacaaaagagccGatcaggacaaagttatcatc	7	8	2	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr13:47409677G>A	uc001vbq.2	-	3	845	c.711C>T	c.(709-711)ATC>ATT	p.I237I	HTR2A_uc001vbr.2_Silent_p.I137I|HTR2A_uc010acr.2_Silent_p.I237I	NM_000621	NP_000612	P28223	5HT2A_HUMAN	5-hydroxytryptamine receptor 2A isoform 1	237	Helical; Name=5; (By similarity).				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CAAAAGAGCCGATCAGGACAA	0.433													A	47409677	G	A	47409677	2	1	151	1	0	0	0	0	0	0	0	1	7441	1048	37	1		1	HTR2A	13	47409677	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	1122187	47409677	67760201	198	81714											
THSD1	55901	broad.mit.edu	37	chr13	52952250	52952250	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcagagtctggctggggcTtatggcacaactggcctgag	15	9	2	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr13:52952250T>G	uc001vgo.2	-	5	2400	c.1855A>C	c.(1855-1857)AGC>CGC	p.S619R	THSD1_uc001vgp.2_Missense_Mutation_p.S566R|THSD1_uc010tgz.1_Missense_Mutation_p.S240R|THSD1_uc010aea.2_Missense_Mutation_p.S80R	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	619	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TGGCTGGGGCTTATGGCACAA	0.622													G	52952250	T	G	52952250	3	3	151	1	0	0	0	0	1	0	0	0	15874	1609	56	5	707	5	THSD1	13	52952250	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	5542573	52952250	62217628	199	81715											
OR4N2	390429	broad.mit.edu	37	chr14	20295670	20295670	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttggtctgacccagtctcaAgatattcagctcctggtctt	8	12	4	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr14:20295670A>T	uc010tkv.1	+	1	63	c.63A>T	c.(61-63)CAA>CAT	p.Q21H		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	21	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCCAGTCTCAAGATATTCAGC	0.408													T	20295670	A	T	20295670	3	4	151	1	0	0	0	0	1	0	0	0	11077	69	3	5	65	5	OR4N2	14	20295670	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08		20295670	87053870	200	81716											
RNF31	55072	broad.mit.edu	37	chr14	24617255	24617255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacggccgcaaccttctcaGccctcagcggcctcggtact	9	17	2	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr14:24617255G>A	uc001wmn.1	+	2	512	c.263G>A	c.(262-264)AGC>AAC	p.S88N	PSME2_uc001wmj.2_5'Flank|PSME2_uc001wmk.2_5'Flank|RNF31_uc001wml.1_5'UTR|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_5'UTR|RNF31_uc001wmo.1_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	88	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		AACCTTCTCAGCCCTCAGCGG	0.577													A	24617255	G	A	24617255	3	1	151	1	0	0	0	0	1	0	0	0	13487	971	34	2	269	2	RNF31	14	24617255	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	4321585	24617255	82732285	201	81717											
PRKD1	5587	broad.mit.edu	37	chr14	30046521	30046521	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcactgtggctagcacTtggattgatcaggtgtgtgg	15	6	2	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr14:30046521T>G	uc001wqh.2	-	18	2843	c.2662A>C	c.(2662-2664)AGT>CGT	p.S888R		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	888					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TGGCTAGCACTTGGATTGATC	0.522													G	30046521	T	G	30046521	3	3	151	1	0	0	0	0	1	0	0	0	12518	1609	56	5	80	5	PRKD1	14	30046521	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	5429266	30046521	77303019	202	81718											
AKAP6	9472	broad.mit.edu	37	chr14	33291387	33291387	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acccctgactgtttgggagaAgaattacaaggaaaacatga	10	7	0	4			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr14:33291387A>C	uc001wrq.2	+	13	4538	c.4368A>C	c.(4366-4368)GAA>GAC	p.E1456D		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1456					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTTTGGGAGAAGAATTACAAG	0.368													C	33291387	A	C	33291387	3	2	151	1	0	0	0	0	1	0	0	0	455	69	3	5	4414	5	AKAP6	14	33291387	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	3244866	33291387	74058153	203	81719											
LRFN5	145581	broad.mit.edu	37	chr14	42360793	42360793	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttattcccaaactaacgggGctcaaatacaaggctgtagt	8	9	1	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr14:42360793G>T	uc001wvm.2	+	4	2924	c.1726G>T	c.(1726-1728)GCT>TCT	p.A576S	LRFN5_uc010ana.2_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	576	Cytoplasmic (Potential).					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AACTAACGGGGCTCAAATACA	0.453										HNSCC(30;0.082)			T	42360793	G	T	42360793	3	4	151	1	0	0	0	0	1	0	0	0	8941	1203	42	5	1732	5	LRFN5	14	42360793	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	9069406	42360793	64988747	204	81720											
PTGDR	5729	broad.mit.edu	37	chr14	52741454	52741454	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttcaaaacagtatcgCgcttactatggagcatttaa	6	8	2	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr14:52741454C>T	uc001wzq.2	+	2	954	c.852C>T	c.(850-852)CGC>CGT	p.R284R		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	284	Extracellular (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	AACAGTATCGCGCTTACTATG	0.398													T	52741454	C	T	52741454	2	4	151	1	0	0	0	0	0	0	0	1	12741	755	27	1		1	PTGDR	14	52741454	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08	10380661	52741454	54608086	205	81721											
TTLL5	23093	broad.mit.edu	37	chr14	76238105	76238105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcccgaatagcattctctGcctatctccagcatgttcaa	7	13	3	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr14:76238105G>A	uc001xrx.2	+	21	2249	c.2044G>A	c.(2044-2046)GCC>ACC	p.A682T	TTLL5_uc010ask.1_Missense_Mutation_p.A696T|TTLL5_uc001xrz.2_Missense_Mutation_p.A257T|TTLL5_uc001xry.1_RNA	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	682					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		AGCATTCTCTGCCTATCTCCA	0.443													A	76238105	G	A	76238105	3	1	151	1	0	0	0	0	1	0	0	0	16727	1319	46	2	2122	2	TTLL5	14	76238105	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	23496651	76238105	31111435	206	81722											
C14orf118	55668	broad.mit.edu	37	chr14	76621146	76621146	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctagccttcagcagaagcTgaaggtgtcagattggagct	13	8	2	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr14:76621146T>C	uc001xsh.2	+	2	526	c.440T>C	c.(439-441)CTG>CCG	p.L147P	C14orf118_uc001xsi.2_Missense_Mutation_p.L147P|C14orf118_uc001xsj.1_Missense_Mutation_p.L147P|C14orf118_uc001xsk.1_Missense_Mutation_p.L147P|C14orf118_uc001xsl.2_RNA	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN	hypothetical protein LOC55668 isoform 1	147										ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.0172)		CAGCAGAAGCTGAAGGTGTCA	0.537													C	76621146	T	C	76621146	3	2	151	1	0	0	0	0	1	0	0	0	1741	1580	55	3	442	3	C14orf118	14	76621146	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	383041	76621146	30728394	207	81723											
C14orf177	283598	broad.mit.edu	37	chr14	99182660	99182660	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagggaaatgcccaagttcTcagcacctgcagagcctaag	11	11	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr14:99182660T>C	uc001yfz.1	+	3	551	c.132T>C	c.(130-132)TCT>TCC	p.S44S		NM_182560	NP_872366	Q52M58	CN177_HUMAN	hypothetical protein LOC283598	44											0		Melanoma(154;0.128)				GCCCAAGTTCTCAGCACCTGC	0.527													C	99182660	T	C	99182660	2	2	151	1	0	0	0	0	0	0	0	1	1760	1538	54	3		3	C14orf177	14	99182660	Silent	SNP	T	TCGA-CD-8535-01A-11D-2340-08	22561514	99182660	8166880	208	81724											
OR4N4	283694	broad.mit.edu	37	chr15	22383400	22383400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgacatgtagtctgtcaaGtggattttataataagaaac	9	5	2	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr15:22383400G>A	uc001yuc.1	+	7	1909	c.928G>A	c.(928-930)GTG>ATG	p.V310M	LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.V310M	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	310	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AGTCTGTCAAGTGGATTTTAT	0.284													A	22383400	G	A	22383400	3	1	151	1	0	0	0	0	1	0	0	0	11078	1029	36	4	930	4	OR4N4	15	22383400	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08		22383400	80147992	209	81725											
ZNF770	54989	broad.mit.edu	37	chr15	35275157	35275157	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgccacagattgtacatgcaTgaatattctttcttcttttc	5	9	3	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr15:35275157T>A	uc001ziw.2	-	3	790	c.479A>T	c.(478-480)CAT>CTT	p.H160L		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	160	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TGTACATGCATGAATATTCTT	0.383													A	35275157	T	A	35275157	3	1	151	1	0	0	0	0	1	0	0	0	18140	1464	51	5	1600	5	ZNF770	15	35275157	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	12891757	35275157	67256235	210	81726											
EHD4	30844	broad.mit.edu	37	chr15	42211597	42211597	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctcgggcgtgttgatgacCttgcctagggaccacatgag	13	11	0	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr15:42211597C>A	uc001zot.2	-	4	798	c.735G>T	c.(733-735)AAG>AAT	p.K245N		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	EH-domain containing 4	245					endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			ovary(2)	2		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TGTTGATGACCTTGCCTAGGG	0.637													A	42211597	C	A	42211597	3	1	151	1	0	0	0	0	1	0	0	0	4980	680	24	5	902	5	EHD4	15	42211597	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	6936440	42211597	60319795	211	81727											
SEMA6D	80031	broad.mit.edu	37	chr15	48055225	48055225	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttcagagccacactttcTtcatgccatagaatatggaa	6	10	4	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr15:48055225T>G	uc010bek.2	+	9	1031	c.671T>G	c.(670-672)CTT>CGT	p.L224R	SEMA6D_uc001zvw.2_Missense_Mutation_p.L224R|SEMA6D_uc001zvx.1_Missense_Mutation_p.L224R|SEMA6D_uc001zvy.2_Missense_Mutation_p.L224R|SEMA6D_uc001zvz.2_Missense_Mutation_p.L224R|SEMA6D_uc001zwa.2_Missense_Mutation_p.L224R|SEMA6D_uc001zwb.2_Missense_Mutation_p.L224R|SEMA6D_uc001zwc.2_Missense_Mutation_p.L224R	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	224	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CCACACTTTCTTCATGCCATA	0.358													G	48055225	T	G	48055225	3	3	151	1	0	0	0	0	1	0	0	0	14042	1609	56	5	701	5	SEMA6D	15	48055225	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	5843628	48055225	54476167	212	81728											
SLC12A1	6557	broad.mit.edu	37	chr15	48594956	48594956	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtcattaggagccttccCgtggcaagaaagggatccat	11	10	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr15:48594956C>T	uc001zwn.3	+	27	3390	c.3174C>T	c.(3172-3174)CCC>CCT	p.P1058P	SLC12A1_uc001zwq.3_Silent_p.P829P|SLC12A1_uc001zwr.3_Silent_p.P785P	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	1058	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GGAGCCTTCCCGTGGCAAGAA	0.383													T	48594956	C	T	48594956	2	4	151	1	0	0	0	0	0	0	0	1	14382	639	23	1		1	SLC12A1	15	48594956	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08	539731	48594956	53936436	213	81729											
GLDN	342035	broad.mit.edu	37	chr15	51687172	51687172	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgtccaacgacgtgctcCtggcaggtaagaggggtacg	15	9	0	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr15:51687172C>T	uc002aba.2	+	5	851	c.682C>T	c.(682-684)CTG>TTG	p.L228L	GLDN_uc002abb.2_Silent_p.L104L	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	228	Extracellular (Potential).				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CGACGTGCTCCTGGCAGGTAA	0.587													T	51687172	C	T	51687172	2	4	151	1	0	0	0	0	0	0	0	1	6434	680	24	4		4	GLDN	15	51687172	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08	3092216	51687172	50844220	214	81730											
ZNF280D	54816	broad.mit.edu	37	chr15	56924164	56924164	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atatttgaatcacaactgacGatgttttttgagccagtttc	7	7	1	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr15:56924164G>T	uc002adu.2	-	22	2689	c.2472C>A	c.(2470-2472)ATC>ATA	p.I824I	uc002ads.2_5'Flank|ZNF280D_uc002adv.2_Silent_p.I811I|ZNF280D_uc010bfq.2_Silent_p.I824I|ZNF280D_uc002adt.2_Silent_p.I65I|ZNF280D_uc010bfp.2_RNA	NM_017661	NP_060131	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	824					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CACAACTGACGATGTTTTTTG	0.368													T	56924164	G	T	56924164	2	4	151	1	0	0	0	0	0	0	0	1	17814	1048	37	5		5	ZNF280D	15	56924164	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	5236992	56924164	45607228	215	81731											
RORA	6095	broad.mit.edu	37	chr15	60919479	60919479	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgtgggtgtggcagacattCtggcctgtccagttcgaaga	15	8	1	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr15:60919479C>A	uc002agv.2	-	1	251	c.95G>T	c.(94-96)AGA>ATA	p.R32I	RORA_uc002agw.2_Missense_Mutation_p.R32I|RORA_uc002agx.2_Intron	NM_134260	NP_599022	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform b	32	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						GGCAGACATTCTGGCCTGTCC	0.373													A	60919479	C	A	60919479	3	1	151	1	0	0	0	0	1	0	0	0	13528	913	32	5	1796	5	RORA	15	60919479	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	3995315	60919479	41611913	216	81732											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84659886	84659886	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatatcaccaaaccagagcAcaaccatctgtctgttgtgg	7	11	3	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr15:84659886A>C	uc002bjz.3	+	23	4117	c.3893A>C	c.(3892-3894)CAC>CCC	p.H1298P	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.H1298P|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.H1298P	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1298	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAACCAGAGCACAACCATCTG	0.458													C	84659886	A	C	84659886	3	2	151	1	0	0	0	0	1	0	0	0	276	159	6	5	3979	5	ADAMTSL3	15	84659886	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	23740407	84659886	17871506	217	81733											
MESP2	145873	broad.mit.edu	37	chr15	90321444	90321444	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caactcagaggaccagggacCgggcgccgccttccagctca	12	16	2	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr15:90321444C>A	uc002bon.2	+	2	1073	c.1073C>A	c.(1072-1074)CCG>CAG	p.P358Q	MESP2_uc010uqa.1_Missense_Mutation_p.P60Q	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog	358					Notch signaling pathway	nucleus	DNA binding				0	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			GACCAGGGACCGGGCGCCGCC	0.657													A	90321444	C	A	90321444	3	1	151	1	0	0	0	0	1	0	0	0	9483	652	23	5	1079	5	MESP2	15	90321444	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	5661558	90321444	12209948	218	81734											
RAB11FIP3	9727	broad.mit.edu	37	chr16	511421	511421	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggtgaaggacttaactaaGtacttggatcccagtgggct	12	8	0	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr16:511421G>C	uc002chf.2	+	2	1071	c.732G>C	c.(730-732)AAG>AAC	p.K244N		NM_014700	NP_055515	O75154	RFIP3_HUMAN	rab11-family interacting protein 3 isoform 1	244	EF-hand 2.				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding				0		Hepatocellular(16;0.0218)				ACTTAACTAAGTACTTGGATC	0.398													C	511421	G	C	511421	3	2	151	1	0	0	0	0	1	0	0	0	12895	1020	36	5	738	5	RAB11FIP3	16	511421	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08		511421	89843332	219	81735											
HS3ST2	9956	broad.mit.edu	37	chr16	22926778	22926778	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaatcaaaagggagaacTcatgtacagattgatcctga	10	7	2	4			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr16:22926778T>C	uc002dli.2	+	2	1071	c.999T>C	c.(997-999)ACT>ACC	p.T333T	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	333	PAPS and substrate (By similarity).|Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		AAGGGAGAACTCATGTACAGA	0.423													C	22926778	T	C	22926778	2	2	151	1	0	0	0	0	0	0	0	1	7364	1538	54	3		3	HS3ST2	16	22926778	Silent	SNP	T	TCGA-CD-8535-01A-11D-2340-08	22415357	22926778	67427975	220	81736											
PRKCB	5579	broad.mit.edu	37	chr16	24104114	24104114	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttttctttttcagtaAgagatgctaaaaaccttgta	6	7	2	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr16:24104114A>C	uc002dmd.2	+	6	729	c.532A>C	c.(532-534)AGA>CGA	p.R178R	PRKCB_uc002dme.2_Silent_p.R178R	NM_212535	NP_997700	P05771	KPCB_HUMAN	protein kinase C, beta isoform 1	178	C2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)	TTTTTCAGTAAGAGATGCTAA	0.418													C	24104114	A	C	24104114	2	2	151	1	0	0	0	0	0	0	0	1	12508	64	3	5		5	PRKCB	16	24104114	Silent	SNP	A	TCGA-CD-8535-01A-11D-2340-08	1177336	24104114	66250639	221	81737											
TMEM231	79583	broad.mit.edu	37	chr16	75575315	75575315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatctgcggccctgcccaCcagccagatggggttgggat	14	13	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr16:75575315C>T	uc002fem.2	-	6	766	c.703G>A	c.(703-705)GTG>ATG	p.V235M	CHST5_uc002fej.1_Intron|TMEM231_uc002fek.2_Missense_Mutation_p.V264M|TMEM231_uc002fel.2_Missense_Mutation_p.V119M|TMEM231_uc010vne.1_Missense_Mutation_p.V88M|TMEM231_uc010cgx.1_Missense_Mutation_p.V199M	NM_001077418	NP_001070886	Q9H6L2	TM231_HUMAN	transmembrane protein 231 isoform 2	235						integral to membrane					0						GCCCTGCCCACCAGCCAGATG	0.453													T	75575315	C	T	75575315	3	4	151	1	0	0	0	0	1	0	0	0	16146	507	18	4	255	4	TMEM231	16	75575315	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	51471201	75575315	14779438	222	81738											
ADAMTS18	170692	broad.mit.edu	37	chr16	77334269	77334269	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgggaagtgcatacttccaAgctatccctggatttttgcc	9	10	0	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr16:77334269A>T	uc002ffc.3	-	17	2984	c.2565T>A	c.(2563-2565)GCT>GCA	p.A855A	ADAMTS18_uc010chc.1_Silent_p.A443A|ADAMTS18_uc002ffe.1_Silent_p.A551A	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	855	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						CATACTTCCAAGCTATCCCTG	0.458													T	77334269	A	T	77334269	2	4	151	1	0	0	0	0	0	0	0	1	263	59	3	5		5	ADAMTS18	16	77334269	Silent	SNP	A	TCGA-CD-8535-01A-11D-2340-08	1758954	77334269	13020484	223	81739											
OR1E1	8387	broad.mit.edu	37	chr17	3301149	3301149	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcagagaaggccagctTcagcagagcagacatatcac	11	10	3	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr17:3301149T>G	uc002fvj.1	-	1	556	c.556A>C	c.(556-558)AAG>CAG	p.K186Q		NM_003553	NP_003544	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E,	186	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AAGGCCAGCTTCAGCAGAGCA	0.463													G	3301149	T	G	3301149	3	3	151	1	0	0	0	0	1	0	0	0	10954	1792	62	5	392	5	OR1E1	17	3301149	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08		3301149	77894061	224	81740											
TRPV1	7442	broad.mit.edu	37	chr17	3495503	3495503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacccttcccaaagagccGggtgcggctcttggccgtgg	14	14	2	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr17:3495503G>A	uc010vrr.1	-	1	669	c.142C>T	c.(142-144)CGG>TGG	p.R48W	TRPV1_uc010vro.1_Missense_Mutation_p.R48W|TRPV1_uc010vrp.1_Missense_Mutation_p.R48W|TRPV1_uc010vrq.1_Silent_p.P22P|TRPV1_uc010vrs.1_Missense_Mutation_p.R48W|TRPV1_uc010vrt.1_Missense_Mutation_p.R48W|TRPV1_uc010vru.1_Missense_Mutation_p.R48W	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	48	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CCAAAGAGCCGGGTGCGGCTC	0.642													A	3495503	G	A	3495503	3	1	151	1	0	0	0	0	1	0	0	0	16592	1115	39	1	2110	1	TRPV1	17	3495503	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	194354	3495503	77699707	225	81741											
C17orf74	201243	broad.mit.edu	37	chr17	7330106	7330106	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgccacggttcccaatccCgactgtggggcaatgtggag	15	12	0	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr17:7330106C>T	uc002ggw.2	+	3	869	c.796C>T	c.(796-798)CGA>TGA	p.R266*	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	266						integral to membrane					0		Prostate(122;0.157)				TTCCCAATCCCGACTGTGGGG	0.662													T	7330106	C	T	7330106	4	4	151	1	0	0	0	0	0	1	0	0	1879	644	23	1	806	1	C17orf74	17	7330106	Nonsense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	3834603	7330106	73865104	226	81742											
TP53	7157	broad.mit.edu	37	chr17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcctgcttgcttacctcGcttagtgctccctgggggca	11	13	0	0	rs121913344		TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr17:7577022G>A	uc002gim.2	-	8	1110	c.916C>T	c.(916-918)CGA>TGA	p.R306*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	306	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.		R -> Q (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R306*(99)|p.0?(7)|p.?(3)|p.R306R(2)|p.R306fs*39(2)|p.K305fs*1(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCTTACCTCGCTTAGTGCTC	0.562	R306*(MFE296_ENDOMETRIUM)|R306*(HCC1937_BREAST)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7577022	G	A	7577022	4	1	151	1	0	0	0	0	0	1	0	0	16378	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	246916	7577022	73618188	227	81743											
RCVRN	5957	broad.mit.edu	37	chr17	9808171	9808171	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccgttaccgtccacgtcGtagagggagaaggcccactc	12	14	0	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr17:9808171G>A	uc002gme.1	-	1	514	c.327C>T	c.(325-327)TAC>TAT	p.Y109Y		NM_002903	NP_002894	P35243	RECO_HUMAN	recoverin	109	EF-hand 3.				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0						CGTCCACGTCGTAGAGGGAGA	0.617													A	9808171	G	A	9808171	2	1	151	1	0	0	0	0	0	0	0	1	13186	1140	40	1		1	RCVRN	17	9808171	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	2231149	9808171	71387039	228	81744											
MYH4	4622	broad.mit.edu	37	chr17	10346803	10346803	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctcctccagctcgtgctgGagcttgcggaacttggcaag	13	13	0	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr17:10346803G>A	uc002gmn.2	-	40	5820	c.5709C>T	c.(5707-5709)CTC>CTT	p.L1903L	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1903	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						GCTCGTGCTGGAGCTTGCGGA	0.468													A	10346803	G	A	10346803	2	1	151	1	0	0	0	0	0	0	0	1	10037	1161	41	4		4	MYH4	17	10346803	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	538632	10346803	70848407	229	81745											
PIGL	9487	broad.mit.edu	37	chr17	16221220	16221220	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagaagtggcacaggccAaggtgaggattgtaaattcc	13	7	0	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr17:16221220A>C	uc002gpv.2	+	6	690	c.658A>C	c.(658-660)AAG>CAG	p.K220Q		NM_004278	NP_004269	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	220	Cytoplasmic (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GGCACAGGCCAAGGTGAGGAT	0.542													C	16221220	A	C	16221220	3	2	151	1	0	0	0	0	1	0	0	0	11891	131	5	5	680	5	PIGL	17	16221220	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	5874417	16221220	64973990	230	81746											
CYTSB	92521	broad.mit.edu	37	chr17	19999988	19999988	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggagtgcagccaagccctgGaacccagccatcagagcagg	13	14	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr17:19999988G>A	uc002gwq.2	+	2	169	c.24G>A	c.(22-24)TGG>TGA	p.W8*	CYTSB_uc010cqx.2_Nonsense_Mutation_p.W8*|CYTSB_uc002gwr.2_Nonsense_Mutation_p.W8*|CYTSB_uc002gws.2_Nonsense_Mutation_p.W8*	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	8						nucleus					0						CCAAGCCCTGGAACCCAGCCA	0.567													A	19999988	G	A	19999988	4	1	151	1	0	0	0	0	0	1	0	0	4210	1183	41	4	26	4	CYTSB	17	19999988	Nonsense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	3778768	19999988	61195222	231	81747											
VTN	7448	broad.mit.edu	37	chr17	26695926	26695926	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccgctcccggccactgtAgctatgggcagggagggcca	15	14	0	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr17:26695926A>G	uc002hbc.2	-	5	942	c.793T>C	c.(793-795)TAC>CAC	p.Y265H	SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron	NM_000638	NP_000629	P04004	VTNC_HUMAN	vitronectin precursor	265	Hemopexin-like 3.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			ovary(1)|kidney(1)	2	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	CGGCCACTGTAGCTATGGGCA	0.577													G	26695926	A	G	26695926	3	3	151	1	0	0	0	0	1	0	0	0	17234	420	15	3	659	3	VTN	17	26695926	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	6695938	26695926	54499284	232	81748											
EFCAB5	374786	broad.mit.edu	37	chr17	28384852	28384853	+	Frame_Shift_Ins	INS	-	-	T													cagcgagactctcacctcctINStttttaaggagggctatgtt							TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr17:28384851_28384852C>CT	uc002het.3	+	12	2715_2716	c.2523_2524C>CT	c.(2521-2526)tcctttfs	p.S841fs	EFCAB5_uc010wbj.2_Frame_Shift_Ins_p.S785fs|EFCAB5_uc010wbk.2_Frame_Shift_Ins_p.S498fs|EFCAB5_uc010csd.3_Non-coding_Transcript|EFCAB5_uc010cse.3_Intron|EFCAB5_uc010csf.3_Frame_Shift_Ins_p.S720fs	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	841							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTCTCACCTCCTTTTTTAAGGA	0.406													T	28384853	-	T	28384852	7	5	151	1	0	1	1	0	0	0	0	0	4938	1609	56	0	2574	0	EFCAB5	17	28384852	Frame_Shift_Ins	INS	-	TCGA-CD-8535-01A-11D-2340-08	1688926	28384852	52810358	233	81749											
TMEM132E	124842	broad.mit.edu	37	chr17	32953468	32953468	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaaggtgcgggccttcatCgtccgctcgcacgtgcccgc	14	15	1	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr17:32953468C>T	uc002hif.2	+	2	718	c.390C>T	c.(388-390)ATC>ATT	p.I130I		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	130	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		GGGCCTTCATCGTCCGCTCGC	0.701													T	32953468	C	T	32953468	2	4	151	1	0	0	0	0	0	0	0	1	16045	874	31	1		1	TMEM132E	17	32953468	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08	4568616	32953468	48241742	234	81750											
AP2B1	163	broad.mit.edu	37	chr17	33951554	33951554	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatggggccagattttcAtcctggactgcctgtctaat	10	10	2	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr17:33951554A>T	uc002hjr.2	+	6	853	c.664A>T	c.(664-666)ATC>TTC	p.I222F	AP2B1_uc002hjq.2_Missense_Mutation_p.I222F|AP2B1_uc010wci.1_Missense_Mutation_p.I184F|AP2B1_uc002hjs.2_Missense_Mutation_p.I165F|AP2B1_uc002hjt.2_Missense_Mutation_p.I222F|AP2B1_uc010ctv.2_Missense_Mutation_p.I222F|AP2B1_uc010wcj.1_5'UTR	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	222					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CCAGATTTTCATCCTGGACTG	0.468													T	33951554	A	T	33951554	3	4	151	1	0	0	0	0	1	0	0	0	741	217	8	5	682	5	AP2B1	17	33951554	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	998086	33951554	47243656	235	81751											
KCNH4	23415	broad.mit.edu	37	chr17	40315668	40315668	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaggttcccagtgggggaatGagaagctgagggggcttcca	17	7	0	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr17:40315668G>C	uc002hzb.2	-	13	2766	c.2433C>G	c.(2431-2433)CTC>CTG	p.L811L		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	811	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTGGGGGAATGAGAAGCTGAG	0.652													C	40315668	G	C	40315668	2	2	151	1	0	0	0	0	0	0	0	1	8034	1277	45	5		5	KCNH4	17	40315668	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	6364114	40315668	40879542	236	81752											
UBE2Z	65264	broad.mit.edu	37	chr17	46998578	46998578	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtatccggcacgagaccatCagagttgcagtctgtgacat	11	10	2	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr17:46998578C>G	uc002ioi.2	+	5	846	c.747C>G	c.(745-747)ATC>ATG	p.I249M		NM_023079	NP_075567	Q9H832	UBE2Z_HUMAN	ubiquitin-conjugating enzyme E2Z	249					apoptosis	cytoplasm|nucleus	ATP binding|ubiquitin-protein ligase activity				0						ACGAGACCATCAGAGTTGCAG	0.448													G	46998578	C	G	46998578	3	3	151	1	0	0	0	0	1	0	0	0	16875	816	29	5	765	5	UBE2Z	17	46998578	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	6682910	46998578	34196632	237	81753											
CACNA1G	8913	broad.mit.edu	37	chr17	48646631	48646631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgggagacacttggaacCggcttgactttttcatcgtc	10	11	1	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr17:48646631C>T	uc002irk.1	+	3	832	c.460C>T	c.(460-462)CGG>TGG	p.R154W	CACNA1G_uc002iri.1_Missense_Mutation_p.R154W|CACNA1G_uc002irj.1_Missense_Mutation_p.R154W|CACNA1G_uc002irl.1_Missense_Mutation_p.R154W|CACNA1G_uc002irm.1_Missense_Mutation_p.R154W|CACNA1G_uc002irn.1_Missense_Mutation_p.R154W|CACNA1G_uc002iro.1_Missense_Mutation_p.R154W|CACNA1G_uc002irp.1_Missense_Mutation_p.R154W|CACNA1G_uc002irq.1_Missense_Mutation_p.R154W|CACNA1G_uc002irr.1_Missense_Mutation_p.R154W|CACNA1G_uc002irs.1_Missense_Mutation_p.R154W|CACNA1G_uc002irt.1_Missense_Mutation_p.R154W|CACNA1G_uc002irv.1_Missense_Mutation_p.R154W|CACNA1G_uc002irw.1_Missense_Mutation_p.R154W|CACNA1G_uc002iru.1_Missense_Mutation_p.R154W|CACNA1G_uc002irx.1_Missense_Mutation_p.R67W|CACNA1G_uc002iry.1_Missense_Mutation_p.R67W|CACNA1G_uc002irz.1_Missense_Mutation_p.R67W|CACNA1G_uc002isa.1_Missense_Mutation_p.R67W|CACNA1G_uc002isb.1_Missense_Mutation_p.R67W|CACNA1G_uc002isc.1_Missense_Mutation_p.R67W|CACNA1G_uc002isd.1_Missense_Mutation_p.R67W|CACNA1G_uc002ise.1_Missense_Mutation_p.R67W|CACNA1G_uc002isf.1_Missense_Mutation_p.R67W|CACNA1G_uc002isg.1_Missense_Mutation_p.R67W|CACNA1G_uc002ish.1_Missense_Mutation_p.R67W|CACNA1G_uc002isi.1_Missense_Mutation_p.R67W	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	154	I.|Helical; Name=S3 of repeat I; (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CACTTGGAACCGGCTTGACTT	0.562													T	48646631	C	T	48646631	3	4	151	1	0	0	0	0	1	0	0	0	2544	643	23	1	470	1	CACNA1G	17	48646631	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	1648053	48646631	32548579	238	81754											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	151	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-CD-8535-01A-11D-2340-08	7739753	56386384	24808826	239	81755											
TLK2	11011	broad.mit.edu	37	chr17	60637416	60637416	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcagattgatgaacagcaaAagatgctagagaaatacaag	11	5	0	5			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr17:60637416A>C	uc010ddp.2	+	10	1028	c.760A>C	c.(760-762)AAG>CAG	p.K254Q	TLK2_uc002izx.3_Missense_Mutation_p.K102Q|TLK2_uc002izz.3_Missense_Mutation_p.K254Q|TLK2_uc002jaa.3_Missense_Mutation_p.K222Q|TLK2_uc010wpd.1_Missense_Mutation_p.K222Q	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	254	Potential.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2						TGAACAGCAAAAGATGCTAGA	0.343													C	60637416	A	C	60637416	3	2	151	1	0	0	0	0	1	0	0	0	15941	15	1	5	794	5	TLK2	17	60637416	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	4251032	60637416	20557794	240	81756											
PSMC5	5705	broad.mit.edu	37	chr17	61907794	61907796	+	In_Frame_Del	DEL	AAG	AAG	-													caaacagatcaaggagatcaAagaagtgatcgagctgcctg							TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr17:61907794_61907796delAAG	uc002jcb.2	+	6	526_528	c.485_487delAAG	c.(484-489)AAAGAA>AAA	p.E163del	FTSJ3_uc002jca.2_5'Flank|PSMC5_uc010ddy.2_In_Frame_Del_p.E140del|PSMC5_uc010ddz.2_In_Frame_Del_p.E84del|PSMC5_uc002jcc.2_In_Frame_Del_p.E155del|PSMC5_uc002jcd.2_In_Frame_Del_p.E155del	NM_002805	NP_002796	P62195	PRS8_HUMAN	proteasome 26S ATPase subunit 5	163					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			large_intestine(1)	1						AAGGAGATCAAAGAAGTGATCGA	0.493													-	61907796	AAG	-	61907794	7	5	151	1	0	1	0	1	0	0	0	0	12690	14	1	0	507	0	PSMC5	17	61907794	In_Frame_Del	DEL	AAG	TCGA-CD-8535-01A-11D-2340-08	1270378	61907794	19287416	241	81757											
EVPL	2125	broad.mit.edu	37	chr17	74006521	74006521	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacccgcttcctctcctctTccagctgggccttcagggcc	8	20	3	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr17:74006521T>A	uc002jqi.2	-	22	2993	c.2765A>T	c.(2764-2766)GAA>GTA	p.E922V	EVPL_uc010wss.1_Missense_Mutation_p.E944V|EVPL_uc010wst.1_Missense_Mutation_p.E392V	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	922	Central fibrous rod domain.|Potential.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CCTCTCCTCTTCCAGCTGGGC	0.652													A	74006521	T	A	74006521	3	1	151	1	0	0	0	0	1	0	0	0	5292	1783	62	5	3340	5	EVPL	17	74006521	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	12098727	74006521	7188689	242	81758											
ENPP7	339221	broad.mit.edu	37	chr17	77708875	77708875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccttcttctacccgggcGggaacgtcacctaccaaggg	11	15	3	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr17:77708875G>A	uc002jxa.2	+	3	453	c.433G>A	c.(433-435)GGG>AGG	p.G145R		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	145					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTACCCGGGCGGGAACGTCAC	0.592													A	77708875	G	A	77708875	3	1	151	1	0	0	0	0	1	0	0	0	5135	1116	39	1	443	1	ENPP7	17	77708875	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	3702354	77708875	3486335	243	81759											
LAMA1	284217	broad.mit.edu	37	chr18	6943298	6943298	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatacggtgtttgcttttgTtagcttgaagagtgtgccat	12	5	0	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr18:6943298T>G	uc002knm.2	-	62	9042	c.8948A>C	c.(8947-8949)AAC>ACC	p.N2983T	LAMA1_uc002knk.2_Missense_Mutation_p.N313T|LAMA1_uc002knl.2_Missense_Mutation_p.N436T|LAMA1_uc010wzj.1_Missense_Mutation_p.N2459T	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2983	Laminin G-like 5.				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)	TTTGCTTTTGTTAGCTTGAAG	0.488													G	6943298	T	G	6943298	3	3	151	1	0	0	0	0	1	0	0	0	8605	1725	60	5	287	5	LAMA1	18	6943298	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08		6943298	71133950	244	81760											
LAMA1	284217	broad.mit.edu	37	chr18	7034595	7034595	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttgctgtgaaaatcttggAagttttcaggcacaagtcta	9	6	3	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr18:7034595A>T	uc002knm.2	-	14	2028	c.1934T>A	c.(1933-1935)TTC>TAC	p.F645Y	LAMA1_uc010wzj.1_Missense_Mutation_p.F121Y	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	645	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)	AAAATCTTGGAAGTTTTCAGG	0.448													T	7034595	A	T	7034595	3	4	151	1	0	0	0	0	1	0	0	0	8605	246	9	5	7493	5	LAMA1	18	7034595	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	91297	7034595	71042653	245	81761											
VAPA	9218	broad.mit.edu	37	chr18	9931832	9931846	+	In_Frame_Del	DEL	AAATCTTAAATTGCG	AAATCTTAAATTGCG	-													ttcacagatgtagtcactacAaatcttaaattgcgaaatcc							TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr18:9931831_9931845CAAATCTTAAATTGCG>C	uc002kok.3	+	1	403_417	c.104_118CAAATCTTAAATTGCG>C	c.(103-120)acaaatcttaaattgcga>aCga	p.NLKLR36del	VAPA_uc002koj.3_In_Frame_Del_p.NLKLR36del	NM_194434	NP_919415	Q9P0L0	VAPA_HUMAN	Homo sapiens VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa (VAPA), transcript variant 2, mRNA.	36	MSP.				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity			breast(1)|lung(2)|prostate(1)	4						GTAGTCACTACAAATCTTAAATTGCGAAATCCATC	0.381													-	9931846	AAATCTTAAATTGCG	-	9931832	7	5	151	1	0	1	0	1	0	0	0	0	17118	117	5	0	111	0	VAPA	18	9931832	In_Frame_Del	DEL	AAATCTTAAATTGCG	TCGA-CD-8535-01A-11D-2340-08	2897237	9931832	68145416	246	81762											
LAMA3	3909	broad.mit.edu	37	chr18	21357584	21357584	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtagctggagatataaaagGcaagtaacctcccttttggt	10	7	0	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr18:21357584G>T	uc002kuq.2	+	11	1554	c.1468_splice	c.e11+1	p.G490_splice	LAMA3_uc010dlv.1_Splice_Site_p.G490_splice|LAMA3_uc002kur.2_Splice_Site_p.G490_splice	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1						cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATATAAAAGGCAAGTAACCT	0.388													T	21357584	G	T	21357584	5	4	151	1	0	0	0	0	0	0	1	0	8607	1217	42	5	1511	5	LAMA3	18	21357584	Splice_Site	SNP	G	TCGA-CD-8535-01A-11D-2340-08	11425752	21357584	56719664	247	81763											
RIT2	6014	broad.mit.edu	37	chr18	40323528	40323528	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggctgtcttttctcttcAgtttcttttccatcaaggat	6	10	5	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr18:40323528A>C	uc002lav.2	-	5	757	c.584T>G	c.(583-585)CTG>CGG	p.L195R	RIT2_uc010dnf.2_3'UTR	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	195					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			ovary(1)	1						TTTTCTCTTCAGTTTCTTTTC	0.423													C	40323528	A	C	40323528	3	2	151	1	0	0	0	0	1	0	0	0	13387	188	7	5	73	5	RIT2	18	40323528	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	18965944	40323528	37753720	248	81764											
PIAS2	9063	broad.mit.edu	37	chr18	44470842	44470842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaaagtccttcaagagttCgtggatatcggcgtctatac	10	9	2	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr18:44470842C>T	uc002lck.2	-	2	358	c.200G>A	c.(199-201)CGA>CAA	p.R67Q	PIAS2_uc010dnp.2_5'UTR|PIAS2_uc002lcl.2_Missense_Mutation_p.R67Q|PIAS2_uc010xda.1_Intron|PIAS2_uc002lcm.2_Missense_Mutation_p.R67Q|PIAS2_uc002lcn.1_Missense_Mutation_p.R71Q	NM_004671	NP_004662	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT X isoform	67					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						TTCAAGAGTTCGTGGATATCG	0.478													T	44470842	C	T	44470842	3	4	151	1	0	0	0	0	1	0	0	0	11876	884	31	1	1792	1	PIAS2	18	44470842	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	4147314	44470842	33606406	249	81765											
PIGN	23556	broad.mit.edu	37	chr18	59742019	59742021	+	In_Frame_Del	DEL	ATA	ATA	-													agtaatgccttaccaaagccAtaatgtctgatatgacgaga							TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr18:59742019_59742021delATA	uc002lii.3	-	30	3058_3060	c.2610_2612delTAT	c.(2608-2613)ATTATG>ATG	p.I870del	PIGN_uc002lij.3_In_Frame_Del_p.I870del	NM_176787	NP_789744	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	870	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5		Colorectal(73;0.187)				TACCAAAGCCATAATGTCTGATA	0.315													-	59742021	ATA	-	59742019	7	5	151	1	0	1	0	1	0	0	0	0	11893	217	8	0	195	0	PIGN	18	59742019	In_Frame_Del	DEL	ATA	TCGA-CD-8535-01A-11D-2340-08	15271177	59742019	18335229	250	81766											
LASS4	79603	broad.mit.edu	37	chr19	8326872	8326872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagtgaggaggcggcggCggcccaggaacctctgcagc	16	14	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr19:8326872C>T	uc002mjg.2	+	12	1384	c.1064C>T	c.(1063-1065)GCG>GTG	p.A355V	LASS4_uc002mjh.2_Missense_Mutation_p.A304V|LASS4_uc002mji.2_Missense_Mutation_p.A191V|LASS4_uc010dvz.2_Missense_Mutation_p.A267V	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN	LAG1 homolog, ceramide synthase 4	355						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			ovary(1)	1						GAGGCGGCGGCGGCCCAGGAA	0.632													T	8326872	C	T	8326872	3	4	151	1	0	0	0	0	1	0	0	0	8641	768	27	1	1102	1	LASS4	19	8326872	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08		8326872	50802111	251	81767											
COL5A3	50509	broad.mit.edu	37	chr19	10071440	10071440	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gctgtagtcacccgtggcttCgtccagccaggcagctgcat	12	14	1	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr19:10071440C>A	uc002mmq.1	-	66	5064	c.4978G>T	c.(4978-4980)GAA>TAA	p.E1660*		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1660	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			CCCGTGGCTTCGTCCAGCCAG	0.592													A	10071440	C	A	10071440	4	1	151	1	0	0	0	0	0	1	0	0	3698	893	31	5	267	5	COL5A3	19	10071440	Nonsense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	1744568	10071440	49057543	252	81768											
ELAVL3	1995	broad.mit.edu	37	chr19	11577597	11577597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgttgggcagggccgggcCggccgggcccccccccacct	15	21	0	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr19:11577597C>T	uc002mry.1	-	2	435	c.55G>A	c.(55-57)GGC>AGC	p.G19S	ELAVL3_uc002mrx.1_Missense_Mutation_p.G19S	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	19					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)|skin(1)	3						Agggccgggccggccgggccc	0.522													T	11577597	C	T	11577597	3	4	151	1	0	0	0	0	1	0	0	0	5051	652	23	1	1072	1	ELAVL3	19	11577597	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	1506157	11577597	47551386	253	81769											
KLF1	10661	broad.mit.edu	37	chr19	12996345	12996345	+	Frame_Shift_Del	DEL	G	G	-													cccaaacaactcaggaaggaGggggacgtggcgggaccggg							TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr19:12996345delG	uc002mvo.2	-	2	762	c.699delC	c.(697-699)CCCfs	p.P233fs		NM_006563	NP_006554	Q13351	KLF1_HUMAN	erythroid Kruppel-like factor	233	Pro-rich.				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGGAAGGAGGGGGACGTGG	0.687													-	12996345	G	-	12996345	7	5	151	1	0	1	0	1	0	0	0	0	8337	987	35	0	397	0	KLF1	19	12996345	Frame_Shift_Del	DEL	G	TCGA-CD-8535-01A-11D-2340-08	1418748	12996345	46132638	254	81770											
CILP2	148113	broad.mit.edu	37	chr19	19655402	19655402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaggccctcaagctgtggtCgctgaaccccgagaccggct	14	14	1	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr19:19655402C>T	uc002nmv.3	+	8	2133	c.2048C>T	c.(2047-2049)TCG>TTG	p.S683L	CILP2_uc002nmw.3_Missense_Mutation_p.S689L	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	683						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						AAGCTGTGGTCGCTGAACCCC	0.746													T	19655402	C	T	19655402	3	4	151	1	0	0	0	0	1	0	0	0	3430	893	31	1	2078	1	CILP2	19	19655402	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	6659057	19655402	39473581	255	81771											
ZNF626	199777	broad.mit.edu	37	chr19	20808024	20808024	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctccagtatgaattttcTtatgtctagtaaggctacaa	6	8	3	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr19:20808024T>G	uc002npb.1	-	4	809	c.659A>C	c.(658-660)AAG>ACG	p.K220T	ZNF626_uc002npc.1_Missense_Mutation_p.K144T	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	220	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						ATGAATTTTCTTATGTCTAGT	0.383													G	20808024	T	G	20808024	3	3	151	1	0	0	0	0	1	0	0	0	18047	1609	56	5	931	5	ZNF626	19	20808024	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08	1152622	20808024	38320959	256	81772											
ZNF85	7639	broad.mit.edu	37	chr19	21117821	21117821	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaggcctggagtatgaAgagacatgagatcatggtgg	16	4	1	4			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr19:21117821A>C	uc002npg.3	+	3	324	c.197A>C	c.(196-198)AAG>ACG	p.K66T	ZNF85_uc002npf.2_RNA|ZNF85_uc002nph.1_RNA|ZNF85_uc010ecn.2_Intron|ZNF85_uc010eco.2_5'Flank|ZNF85_uc002npi.2_5'Flank	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	66	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1						TGGAGTATGAAGAGACATGAG	0.413													C	21117821	A	C	21117821	3	2	151	1	0	0	0	0	1	0	0	0	18190	72	3	5	207	5	ZNF85	19	21117821	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	309797	21117821	38011162	257	81773											
ZNF99	7652	broad.mit.edu	37	chr19	22941160	22941160	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggctgagaaatgcttaaaAgctttgccacattcttcaca	8	9	2	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr19:22941160A>G	uc010xrh.1	-	5	1278	c.1278T>C	c.(1276-1278)GCT>GCC	p.A426A		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AATGCTTAAAAGCTTTGCCAC	0.343													G	22941160	A	G	22941160	2	3	151	1	0	0	0	0	0	0	0	1	18201	59	3	3		3	ZNF99	19	22941160	Silent	SNP	A	TCGA-CD-8535-01A-11D-2340-08	1823339	22941160	36187823	258	81774											
LRFN3	79414	broad.mit.edu	37	chr19	36430970	36430970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggacatgacctccaacCgcctgaccacaatcccaccc	7	19	0	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr19:36430970C>T	uc002oco.2	+	2	1095	c.643C>T	c.(643-645)CGC>TGC	p.R215C		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	215	Extracellular (Potential).|LRR 7.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GACCTCCAACCGCCTGACCAC	0.697													T	36430970	C	T	36430970	3	4	151	1	0	0	0	0	1	0	0	0	8939	652	23	1	645	1	LRFN3	19	36430970	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	13489810	36430970	22698013	259	81775											
WDR62	284403	broad.mit.edu	37	chr19	36583682	36583682	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accggcagcagcagcagcacAcaaatgacaagaagcggagt	12	11	0	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr19:36583682A>G	uc002odc.2	+	19	2393	c.2302A>G	c.(2302-2304)ACA>GCA	p.T768A	WDR62_uc002odd.2_Missense_Mutation_p.T768A	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	768					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCAGCAGCACACAAATGACAA	0.537													G	36583682	A	G	36583682	3	3	151	1	0	0	0	0	1	0	0	0	17310	159	6	3	2376	3	WDR62	19	36583682	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	152712	36583682	22545301	260	81776											
ZNF529	57711	broad.mit.edu	37	chr19	37037814	37037814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattttcggttggcaagtaAgatgcccaacaacactaaag	8	8	0	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr19:37037814A>G	uc002oeh.3	-	5	1848	c.1646T>C	c.(1645-1647)CTT>CCT	p.L549P	ZNF529_uc010xth.1_Missense_Mutation_p.L549P|ZNF529_uc010xti.1_Missense_Mutation_p.L531P|ZNF529_uc002oeg.3_Missense_Mutation_p.L444P	NM_020951	NP_066002	Q6P280	ZN529_HUMAN	zinc finger protein 529 isoform a	516	C2H2-type 12; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					TTGGCAAGTAAGATGCCCAAC	0.353													G	37037814	A	G	37037814	3	3	151	1	0	0	0	0	1	0	0	0	17967	72	3	3	49	3	ZNF529	19	37037814	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	454132	37037814	22091169	261	81777											
ZNF382	84911	broad.mit.edu	37	chr19	37117657	37117657	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcctgtttttattatgccTcagagacctcaaacagaaga	7	9	2	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr19:37117657T>G	uc002oek.2	+	5	971	c.858T>G	c.(856-858)CCT>CCG	p.P286P	ZNF382_uc010efa.2_Silent_p.P237P|ZNF382_uc010efb.2_Silent_p.P285P|ZNF382_uc002oel.2_Silent_p.P285P	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	zinc finger protein 382	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTATTATGCCTCAGAGACCTC	0.418													G	37117657	T	G	37117657	2	3	151	1	0	0	0	0	0	0	0	1	17870	1538	54	5		5	ZNF382	19	37117657	Silent	SNP	T	TCGA-CD-8535-01A-11D-2340-08	79843	37117657	22011326	262	81778											
RYR1	6261	broad.mit.edu	37	chr19	38966081	38966081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccccgagatcatcctcaaCaccaccacggtgtggaccag	9	16	2	1	rs139622869		TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr19:38966081C>T	uc002oit.2	+	29	4414	c.4284C>T	c.(4282-4284)AAC>AAT	p.N1428N	RYR1_uc002oiu.2_Silent_p.N1428N	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1428	Cytoplasmic.|B30.2/SPRY 3.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCATCCTCAACACCACCACGG	0.597													T	38966081	C	T	38966081	2	4	151	1	0	0	0	0	0	0	0	1	13768	477	17	4		4	RYR1	19	38966081	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08	1848424	38966081	20162902	263	81779											
PAF1	54623	broad.mit.edu	37	chr19	39876874	39876874	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcactgccaaagatctcCtctttgtcacgggcagcccg	9	15	4	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr19:39876874C>T	uc002old.2	-	14	1528	c.1353G>A	c.(1351-1353)GAG>GAA	p.E451E	PAF1_uc002ole.1_Intron	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor,	451	Glu-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			pancreas(1)	1	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CAAAGATCTCCTCTTTGTCAC	0.582													T	39876874	C	T	39876874	2	4	151	1	0	0	0	0	0	0	0	1	11383	680	24	4		4	PAF1	19	39876874	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08	910793	39876874	19252109	264	81780											
TIMM50	92609	broad.mit.edu	37	chr19	39980387	39980387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagcgcctggccgagctctCcaagtccaacaagcagaacc	10	16	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr19:39980387C>T	uc002olu.1	+	11	1431	c.1298C>T	c.(1297-1299)TCC>TTC	p.S433F	TIMM50_uc002olt.1_RNA|TIMM50_uc002olv.1_Missense_Mutation_p.S132F	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50	330	Mitochondrial intermembrane (Potential).				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			ovary(1)	1	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCCGAGCTCTCCAAGTCCAAC	0.632													T	39980387	C	T	39980387	3	4	151	1	0	0	0	0	1	0	0	0	15910	855	30	4	1340	4	TIMM50	19	39980387	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	103513	39980387	19148596	265	81781											
FCGBP	8857	broad.mit.edu	37	chr19	40392045	40392045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacattgctggatgggcaCgcaggcttggccgttgtaga	15	10	0	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr19:40392045C>T	uc002omp.3	-	17	8349	c.8341G>A	c.(8341-8343)GTG>ATG	p.V2781M		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	2781	Cys-rich.|TIL 6.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGATGGGCACGCAGGCTTGG	0.607													T	40392045	C	T	40392045	3	4	151	1	0	0	0	0	1	0	0	0	5778	536	19	1	7956	1	FCGBP	19	40392045	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	411658	40392045	18736938	266	81782											
FCGBP	8857	broad.mit.edu	37	chr19	40433051	40433051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagttggtggtggcctcggcCgtgtggatcatgtcagctgt	16	8	2	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr19:40433051C>T	uc002omp.3	-	2	1226	c.1218G>A	c.(1216-1218)ACG>ACA	p.T406T		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	406	IgGFc-binding.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGCCTCGGCCGTGTGGATCA	0.592													T	40433051	C	T	40433051	2	4	151	1	0	0	0	0	0	0	0	1	5778	639	23	1		1	FCGBP	19	40433051	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08	41006	40433051	18695932	267	81783											
GRIK5	2901	broad.mit.edu	37	chr19	42509893	42509893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccagcggcatgccaatgcCgtagcccttggtgtcgagga	13	13	0	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr19:42509893C>T	uc002osj.1	-	16	2280	c.2245G>A	c.(2245-2247)GGC>AGC	p.G749S	GRIK5_uc002osi.1_Missense_Mutation_p.G321S	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	749	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	ATGCCAATGCCGTAGCCCTTG	0.647													T	42509893	C	T	42509893	3	4	151	1	0	0	0	0	1	0	0	0	6777	652	23	1	713	1	GRIK5	19	42509893	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	2076842	42509893	16619090	268	81784											
BCAM	4059	broad.mit.edu	37	chr19	45321843	45321843	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctctaaacagcagtgcagtCgtgaactgctccgtgcacgg	11	13	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr19:45321843C>T	uc002ozu.2	+	9	1187	c.1143C>T	c.(1141-1143)GTC>GTT	p.V381V	BCAM_uc002ozt.1_Silent_p.V381V	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	381	Extracellular (Potential).|Ig-like C2-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GCAGTGCAGTCGTGAACTGCT	0.647													T	45321843	C	T	45321843	2	4	151	1	0	0	0	0	0	0	0	1	1344	871	31	1		1	BCAM	19	45321843	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08	2811950	45321843	13807140	269	81785											
ZNF577	84765	broad.mit.edu	37	chr19	52376330	52376330	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacttaaaatagaaggttcTtccacaatcactgcatttat	5	8	2	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr19:52376330T>G	uc010yde.1	-	7	1304	c.913A>C	c.(913-915)AGA>CGA	p.R305R	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Silent_p.R246R|ZNF577_uc002pxv.2_Silent_p.R298R|ZNF577_uc002pxw.2_Silent_p.R239R	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	zinc finger protein 577 isoform a	305	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TAGAAGGTTCTTCCACAATCA	0.433													G	52376330	T	G	52376330	2	3	151	1	0	0	0	0	0	0	0	1	18006	1617	56	5		5	ZNF577	19	52376330	Silent	SNP	T	TCGA-CD-8535-01A-11D-2340-08	7054487	52376330	6752653	270	81786											
VN1R4	317703	broad.mit.edu	37	chr19	53770759	53770759	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttacagcggagagctaagaAgttggctacaatcaggtgct	12	7	1	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr19:53770759A>C	uc010ydu.1	-	1	160	c.160T>G	c.(160-162)TTC>GTC	p.F54V		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	54	Helical; Name=2; (Potential).				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.00294)		AGAGCTAAGAAGTTGGCTACA	0.453										HNSCC(26;0.072)			C	53770759	A	C	53770759	3	2	151	1	0	0	0	0	1	0	0	0	17177	72	3	5	748	5	VN1R4	19	53770759	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	1394429	53770759	5358224	271	81787											
ZNF835	90485	broad.mit.edu	37	chr19	57175393	57175393	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcggccccgcattgcaggcAcctgtagggccgctcaccgg	15	16	1	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr19:57175393A>T	uc010ygo.1	-	2	1240	c.1240T>A	c.(1240-1242)TGC>AGC	p.C414S	ZNF835_uc010ygn.1_Missense_Mutation_p.C392S	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						CATTGCAGGCACCTGTAGGGC	0.662													T	57175393	A	T	57175393	3	4	151	1	0	0	0	0	1	0	0	0	18183	159	6	5	441	5	ZNF835	19	57175393	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	3404634	57175393	1953590	272	81788											
PROKR2	128674	broad.mit.edu	37	chr20	5282999	5282999	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacagcacataggccgtgAgaatgcacatgagcaccagg	12	11	0	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr20:5282999A>C	uc010zqw.1	-	2	842	c.842T>G	c.(841-843)CTC>CGC	p.L281R	PROKR2_uc010zqx.1_Missense_Mutation_p.L281R|PROKR2_uc010zqy.1_Missense_Mutation_p.L281R	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	281	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5						ATAGGCCGTGAGAATGCACAT	0.587										HNSCC(71;0.22)			C	5282999	A	C	5282999	3	2	151	1	0	0	0	0	1	0	0	0	12553	304	11	5	315	5	PROKR2	20	5282999	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08		5282999	57742521	273	81789											
PYGB	5834	broad.mit.edu	37	chr20	25276278	25276278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgaagcctacatgcagtGccaggcacaggtggaccagc	12	12	0	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr20:25276278G>A	uc002wup.2	+	19	2460	c.2351G>A	c.(2350-2352)TGC>TAC	p.C784Y	ABHD12_uc002wuq.2_Intron|ABHD12_uc002wur.2_Intron	NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	784					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	TACATGCAGTGCCAGGCACAG	0.607													A	25276278	G	A	25276278	3	1	151	1	0	0	0	0	1	0	0	0	12860	1319	46	2	2425	2	PYGB	20	25276278	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	19993279	25276278	37749242	274	81790											
FAM83C	128876	broad.mit.edu	37	chr20	33874645	33874645	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattgggcccaggcccctcaCcacggaatgggccgaacttt	11	15	1	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr20:33874645C>A	uc010zux.1	-	4	2055	c.1937G>T	c.(1936-1938)GGT>GTT	p.G646V	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.G301V	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	646										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AGGCCCCTCACCACGGAATGG	0.642													A	33874645	C	A	33874645	3	1	151	1	0	0	0	0	1	0	0	0	5635	507	18	5	310	5	FAM83C	20	33874645	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	8598367	33874645	29150875	275	81791											
CHD6	84181	broad.mit.edu	37	chr20	40049347	40049347	+	Silent	SNP	G	G	A													gcagtgggttcaccctccatGgcgatagtattggttttact							TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr20:40049347G>A	uc002xka.1	-	31	6106	c.5928C>T	c.(5926-5928)GCC>GCT	p.A1976A		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1976					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				CACCCTCCATGGCGATAGTAT	0.433													A	40049347	G	A	40049347	2	1	151	1	0	0	0	0	0	0	0	1	3329	1335	47	4		4	CHD6	20	40049347	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	6174702	40049347	22976173	276	81792	408	2									
CHD6	84181	broad.mit.edu	37	chr20	40049356	40049356	+	Missense_Mutation	SNP	A	A	C													tcaccctccatggcgatagtAttggttttacttttgaacag							TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr20:40049356A>C	uc002xka.1	-	31	6097	c.5919T>G	c.(5917-5919)AAT>AAG	p.N1973K		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1973					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TGGCGATAGTATTGGTTTTAC	0.443													C	40049356	A	C	40049356	3	2	151	1	0	0	0	0	1	0	0	0	3329	446	16	5	2256	5	CHD6	20	40049356	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	9	40049356	22976164	277	81793	408	2									
MMP9	4318	broad.mit.edu	37	chr20	44639165	44639165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccgcgggcggtgattgacGacgcctttgcccgcgccttc	14	15	0	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr20:44639165G>A	uc002xqz.2	+	3	434	c.415G>A	c.(415-417)GAC>AAC	p.D139N		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	139					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GGTGATTGACGACGCCTTTGC	0.612													A	44639165	G	A	44639165	3	1	151	1	0	0	0	0	1	0	0	0	9669	1058	37	1	425	1	MMP9	20	44639165	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	4589809	44639165	18386355	278	81794											
TPTE	7179	broad.mit.edu	37	chr21	10908834	10908834	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatattcatacctgttatttTcaataaaagatgtgtgcaac	5	6	2	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr21:10908834T>A	uc002yip.1	-	23	1879	c.1511A>T	c.(1510-1512)GAA>GTA	p.E504V	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.E486V|TPTE_uc002yir.1_Missense_Mutation_p.E466V|TPTE_uc010gkv.1_Missense_Mutation_p.E366V	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	504	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTGTTATTTTCAATAAAAGA	0.299													A	10908834	T	A	10908834	3	1	151	1	0	0	0	0	1	0	0	0	16427	1783	62	5	152	5	TPTE	21	10908834	Missense_Mutation	SNP	T	TCGA-CD-8535-01A-11D-2340-08		10908834	37221061	279	81795											
TPTE	7179	broad.mit.edu	37	chr21	10934995	10934995	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatctagaaaccgcacaacTtcctaaaaaagacaaacaca	3	11	1	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr21:10934995T>C	uc002yip.1	-	15	1166	c.798A>G	c.(796-798)GAA>GAG	p.E266E	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.E248E|TPTE_uc002yir.1_Silent_p.E228E|TPTE_uc010gkv.1_Silent_p.E128E	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	266	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACCGCACAACTTCCTAAAAAA	0.333													C	10934995	T	C	10934995	2	2	151	1	0	0	0	0	0	0	0	1	16427	1606	56	3		3	TPTE	21	10934995	Silent	SNP	T	TCGA-CD-8535-01A-11D-2340-08	26161	10934995	37194900	280	81796											
TPTE	7179	broad.mit.edu	37	chr21	10971302	10971302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tataactcacctgtcattggGgccgagctcaatgatgactc	9	11	3	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr21:10971302G>A	uc002yip.1	-	5	423	c.55C>T	c.(55-57)CCC>TCC	p.P19S	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.P19S|TPTE_uc002yir.1_Missense_Mutation_p.P19S|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	19					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTGTCATTGGGGCCGAGCTCA	0.303													A	10971302	G	A	10971302	3	1	151	1	0	0	0	0	1	0	0	0	16427	1232	43	4	1680	4	TPTE	21	10971302	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	36307	10971302	37158593	281	81797											
TRPM2	7226	broad.mit.edu	37	chr21	45820246	45820246	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgctcctcaccggcctcatCtccttcaggtgctgcagggc	10	17	4	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr21:45820246C>T	uc002zet.1	+	16	2526	c.2313C>T	c.(2311-2313)ATC>ATT	p.I771I	TRPM2_uc002zeu.1_Silent_p.I771I|TRPM2_uc002zew.1_Silent_p.I771I|TRPM2_uc010gpt.1_Silent_p.I771I|TRPM2_uc002zex.1_Silent_p.I557I|TRPM2_uc002zey.1_Silent_p.I284I	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	771	Helical; (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CCGGCCTCATCTCCTTCAGGT	0.488													T	45820246	C	T	45820246	2	4	151	1	0	0	0	0	0	0	0	1	16583	903	32	4		4	TRPM2	21	45820246	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08	34848944	45820246	2309649	282	81798											
PCBP3	54039	broad.mit.edu	37	chr21	47321018	47321018	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttgccatgatcgcatacaaGtttgaggaggtaacctgcac	10	9	0	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr21:47321018G>C	uc002zhq.1	+	5	455	c.330G>C	c.(328-330)AAG>AAC	p.K110N	PCBP3_uc010gqb.2_Missense_Mutation_p.K110N|PCBP3_uc002zhp.1_Missense_Mutation_p.K110N|PCBP3_uc010gqc.1_Missense_Mutation_p.K110N|PCBP3_uc002zhs.1_Missense_Mutation_p.K110N|PCBP3_uc002zhr.1_Missense_Mutation_p.K110N|PCBP3_uc002zht.1_Missense_Mutation_p.K78N	NM_020528	NP_065389	P57721	PCBP3_HUMAN	poly(rC) binding protein 3 isoform 1	110					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			skin(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TCGCATACAAGTTTGAGGAGG	0.597													C	47321018	G	C	47321018	3	2	151	1	0	0	0	0	1	0	0	0	11502	1020	36	5	348	5	PCBP3	21	47321018	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	1500772	47321018	808877	283	81799											
PRAME	23532	broad.mit.edu	37	chr22	22891014	22891014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgcatcacatccccttcCgaaagccggcagttagttat	8	12	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr22:22891014C>T	uc002zwf.2	-	5	1161	c.1005G>A	c.(1003-1005)TCG>TCA	p.S335S	LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Silent_p.S319S|PRAME_uc010gtr.2_Silent_p.S335S|PRAME_uc002zwg.2_Silent_p.S335S|PRAME_uc002zwh.2_Silent_p.S335S|PRAME_uc002zwi.2_Silent_p.S335S|PRAME_uc002zwj.2_Silent_p.S335S|PRAME_uc002zwk.2_Silent_p.S335S	NM_206956	NP_996839	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	335	LRR 1.				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			central_nervous_system(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CATCCCCTTCCGAAAGCCGGC	0.542													T	22891014	C	T	22891014	2	4	151	1	0	0	0	0	0	0	0	1	12424	639	23	1		1	PRAME	22	22891014	Silent	SNP	C	TCGA-CD-8535-01A-11D-2340-08		22891014	28413552	284	81800											
ZNF70	7621	broad.mit.edu	37	chr22	24087318	24087318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accaaactttgttgctggggGaacctccattgtgaatctgc	10	10	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr22:24087318G>A	uc002zxs.2	-	2	471	c.10C>T	c.(10-12)CCC>TCC	p.P4S	ZNF70_uc002zxr.1_5'Flank	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	4						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						GTTGCTGGGGGAACCTCCATT	0.438													A	24087318	G	A	24087318	3	1	151	1	0	0	0	0	1	0	0	0	18100	1174	41	4	1334	4	ZNF70	22	24087318	Missense_Mutation	SNP	G	TCGA-CD-8535-01A-11D-2340-08	1196304	24087318	27217248	285	81801											
C22orf36	388886	broad.mit.edu	37	chr22	24985869	24985869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccgggttgaggaaggccaCatctctgtagaggatatcag	14	8	2	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chr22:24985869C>T	uc003aaq.2	-	2	255	c.226G>A	c.(226-228)GTG>ATG	p.V76M	GGT1_uc003aan.1_Intron|C22orf36_uc003aao.2_5'Flank|C22orf36_uc003aap.2_RNA	NM_207644	NP_997527	Q2VPJ9	LRC6X_HUMAN	hypothetical protein LOC388886	76											0						AGGAAGGCCACATCTCTGTAG	0.607													T	24985869	C	T	24985869	3	4	151	1	0	0	0	0	1	0	0	0	2146	478	17	4	733	4	C22orf36	22	24985869	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	898551	24985869	26318697	286	81802											
DMD	1756	broad.mit.edu	37	chrX	32490353	32490353	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtatggagagtttggtTtctgactgctggacccatgt	14	6	1	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chrX:32490353T>C	uc004dda.1	-	22	3121	c.2877A>G	c.(2875-2877)GAA>GAG	p.E959E	DMD_uc004dcz.2_Silent_p.E836E|DMD_uc004dcy.1_Silent_p.E955E|DMD_uc004ddb.1_Silent_p.E951E|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	959	Spectrin 6.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGAGTTTGGTTTCTGACTGCT	0.433													C	32490353	T	C	32490353	2	2	151	1	0	0	0	0	0	0	0	1	4580	1838	64	3		3	DMD	23	32490353	Silent	SNP	T	TCGA-CD-8535-01A-11D-2340-08		32490353	122780207	287	81803											
TIMM17B	10245	broad.mit.edu	37	chrX	48754135	48754135	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaatcatccacaattcgCcatgggctgcaagcaggaag	10	13	1	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chrX:48754135C>T	uc004dlc.1	-	3	182	c.33G>A	c.(31-33)TGG>TGA	p.W11*	PQBP1_uc004dle.2_5'Flank|PQBP1_uc004dlf.2_5'Flank|PQBP1_uc004dlg.2_5'Flank|PQBP1_uc004dld.2_5'Flank|PQBP1_uc004dlh.2_5'Flank|PQBP1_uc004dli.2_5'Flank|PQBP1_uc004dlj.1_5'Flank|PQBP1_uc004dln.2_5'Flank|PQBP1_uc010nih.2_5'Flank|PQBP1_uc010nii.2_5'Flank|PQBP1_uc004dlk.2_5'Flank|PQBP1_uc004dll.2_5'Flank|PQBP1_uc004dlm.2_5'Flank|PQBP1_uc010nij.2_5'Flank|TIMM17B_uc004dla.1_Nonsense_Mutation_p.W11*|TIMM17B_uc004dlb.1_5'UTR	NM_005834	NP_005825	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17	11					protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1						CCACAATTCGCCATGGGCTGC	0.557													T	48754135	C	T	48754135	4	4	151	1	0	0	0	0	0	1	0	0	15906	740	26	2	659	2	TIMM17B	23	48754135	Nonsense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	16263782	48754135	106516425	288	81804											
HUWE1	10075	broad.mit.edu	37	chrX	53610583	53610583	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttaagagaagggtgaccaGgggagtaaacccattgaagc	13	7	1	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chrX:53610583G>A	uc004dsp.2	-	42	5857	c.5455C>T	c.(5455-5457)CTG>TTG	p.L1819L	HUWE1_uc004dsn.2_Silent_p.L644L	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	1819					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						AGGGTGACCAGGGGAGTAAAC	0.468													A	53610583	G	A	53610583	2	1	151	1	0	0	0	0	0	0	0	1	7461	991	35	4		4	HUWE1	23	53610583	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	4856448	53610583	101659977	289	81805											
USP51	158880	broad.mit.edu	37	chrX	55513611	55513611	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaagccacaatgggtaAttttttcattgtgagctgtt	8	6	1	1			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chrX:55513611A>C	uc004dun.1	-	2	1841	c.1762T>G	c.(1762-1764)TTA>GTA	p.L588V	USP51_uc011moo.1_Missense_Mutation_p.L292V	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	588					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						ACAATGGGTAATTTTTTCATT	0.433													C	55513611	A	C	55513611	3	2	151	1	0	0	0	0	1	0	0	0	17080	98	4	5	377	5	USP51	23	55513611	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	1903028	55513611	99756949	290	81806											
ATRX	546	broad.mit.edu	37	chrX	76937769	76937770	+	Frame_Shift_Ins	INS	-	-	T													tcttaaagtctgaaggtttcINStttttttcttcagttccctt							TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chrX:76937769_76937770insT	uc004ecp.3	-	9	3210_3211	c.2978_2979insA	c.(2977-2979)AAGfs	p.K993fs	ATRX_uc004ecq.3_Frame_Shift_Ins_p.K955fs|ATRX_uc004eco.3_Frame_Shift_Ins_p.K778fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.K925fs|ATRX_uc010nlx.1_Frame_Shift_Ins_p.K964fs|ATRX_uc010nly.1_Frame_Shift_Ins_p.K938fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	993					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	CTGAAGGTTTCTTTTTTTCTTC	0.347			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76937770	-	T	76937769	7	5	151	1	0	1	1	0	0	0	0	0	1208	912	32	0	4607	0	ATRX	23	76937769	Frame_Shift_Ins	INS	-	TCGA-CD-8535-01A-11D-2340-08	21424158	76937769	78332791	291	81807	409	2									
ATRX	546	broad.mit.edu	37	chrX	76937770	76937771	+	Frame_Shift_Ins	INS	-	-	T													cttaaagtctgaaggtttctINSttttttcttcagttcccttt							TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chrX:76937769_76937770C>CT	uc004ecp.4	-	8	3210_3211	c.2978_2979G>AG	c.(2977-2979)aagfs	p.K993fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.K955fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.K778fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.K925fs|ATRX_uc010nlx.1_Frame_Shift_Ins_p.K964fs|ATRX_uc010nly.1_Frame_Shift_Ins_p.K938fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	993					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTGAAGGTTTCTTTTTTTCTTC	0.347			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76937771	-	T	76937770	7	5	151	1	0	1	1	0	0	0	0	0	1208	1609	56	0	4608	0	ATRX	23	76937770	Frame_Shift_Ins	INS	-	TCGA-CD-8535-01A-11D-2340-08	1	76937770	78332790	292	81808	409	2									
LPAR4	2846	broad.mit.edu	37	chrX	78011422	78011422	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccagctattcaagaggaAgtgagtgatcaaacaacaaa	8	8	2	3			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chrX:78011422A>C	uc010nme.2	+	2	1461	c.1056A>C	c.(1054-1056)GAA>GAC	p.E352D		NM_005296	NP_005287	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	352	Cytoplasmic (Potential).					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			ovary(3)	3						TTCAAGAGGAAGTGAGTGATC	0.403													C	78011422	A	C	78011422	3	2	151	1	0	0	0	0	1	0	0	0	8907	69	3	5	1058	5	LPAR4	23	78011422	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	1073652	78011422	77259138	293	81809											
POU3F4	5456	broad.mit.edu	37	chrX	82763585	82763585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggacgtgaagcccgggCgcgaagacctgcaactgggt	16	11	0	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chrX:82763585C>T	uc004eeg.2	+	1	317	c.253C>T	c.(253-255)CGC>TGC	p.R85C		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	85					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GAAGCCCGGGCGCGAAGACCT	0.682													T	82763585	C	T	82763585	3	4	151	1	0	0	0	0	1	0	0	0	12277	768	27	1	255	1	POU3F4	23	82763585	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	4752163	82763585	72506975	294	81810											
CYLC1	1538	broad.mit.edu	37	chrX	83129336	83129336	+	Frame_Shift_Del	DEL	T	T	-													acatctacaaaaatcaaaggTtcagatactgaatctgaaga							TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chrX:83129336delT	uc004eei.1	+	4	1641	c.1620delT	c.(1618-1620)GGTfs	p.G540fs	CYLC1_uc004eeh.1_Frame_Shift_Del_p.G539fs	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	540	8.|8 X approximate tandem repeats.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						AAATCAAAGGTTCAGATACTG	0.373													-	83129336	T	-	83129336	7	5	151	1	0	1	0	1	0	0	0	0	4141	1712	60	0	1634	0	CYLC1	23	83129336	Frame_Shift_Del	DEL	T	TCGA-CD-8535-01A-11D-2340-08	365751	83129336	72141224	295	81811											
XKRX	402415	broad.mit.edu	37	chrX	100177864	100177864	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgagcccaggaaggcttgGatctgtgacatacgtttgta	12	8	1	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chrX:100177864G>A	uc004egn.2	-	2	1127	c.522C>T	c.(520-522)ATC>ATT	p.I174I	XKRX_uc011mre.1_Intron	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	174	Helical; (Potential).					integral to membrane|plasma membrane				breast(1)	1						GGAAGGCTTGGATCTGTGACA	0.567													A	100177864	G	A	100177864	2	1	151	1	0	0	0	0	0	0	0	1	17436	1164	41	4		4	XKRX	23	100177864	Silent	SNP	G	TCGA-CD-8535-01A-11D-2340-08	17048528	100177864	55092696	296	81812											
COL4A5	1287	broad.mit.edu	37	chrX	107936061	107936061	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtttgcaactttgcttcaAgaaatgactattcttactgg	7	7	2	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chrX:107936061A>G	uc004enz.1	+	49	4814	c.4612A>G	c.(4612-4614)AGA>GGA	p.R1538G	COL4A5_uc011mso.1_Missense_Mutation_p.R1535G|COL4A5_uc011msp.1_Missense_Mutation_p.R214G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1532	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						CTTTGCTTCAAGAAATGACTA	0.478									Alport_syndrome_with_Diffuse_Leiomyomatosis				G	107936061	A	G	107936061	3	3	151	1	0	0	0	0	1	0	0	0	3694	64	3	3	4795	3	COL4A5	23	107936061	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	7758197	107936061	47334499	297	81813											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298575	125298575	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agggagaggccccccagccaCaaagagcttcatctccggcc	11	16	2	2			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chrX:125298575C>G	uc004euk.1	-	1	1360	c.1333G>C	c.(1333-1335)GTG>CTG	p.V445L		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	445										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						CCCCCAGCCACAAAGAGCTTC	0.552													G	125298575	C	G	125298575	3	3	151	1	0	0	0	0	1	0	0	0	4265	478	17	5	62	5	DCAF12L2	23	125298575	Missense_Mutation	SNP	C	TCGA-CD-8535-01A-11D-2340-08	17362514	125298575	29971985	298	81814											
PASD1	139135	broad.mit.edu	37	chrX	150840247	150840247	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagccttgtgttgccttcaAccaggtatggaaaggctgtt	13	8	1	0			TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chrX:150840247A>C	uc004fev.3	+	13	1765	c.1433A>C	c.(1432-1434)AAC>ACC	p.N478T		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	478						nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GTTGCCTTCAACCAGGTATGG	0.453													C	150840247	A	C	150840247	3	2	151	1	0	0	0	0	1	0	0	0	11471	43	2	5	1479	5	PASD1	23	150840247	Missense_Mutation	SNP	A	TCGA-CD-8535-01A-11D-2340-08	25541672	150840247	4430313	299	81815											
DUSP9	1852	broad.mit.edu	37	chrX	152915673	152915674	+	Frame_Shift_Ins	INS	-	-	G													actcgcaggagcagggcagtINSggggggcaggcatctgcggc							TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chrX:152915673_152915674insG	uc004fhx.3	+	4	1272_1273	c.1068_1069insG	c.(1066-1071)AGTGGGfs	p.S356fs	DUSP9_uc004fhy.3_Frame_Shift_Ins_p.S356fs	NM_001395	NP_001386	Q99956	DUS9_HUMAN	dual specificity phosphatase 9	356_357	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGGGCAGTGGGGGGCAGGC	0.658													G	152915674	-	G	152915673	7	5	151	1	0	1	1	0	0	0	0	0	4832	1693	59	0	1078	0	DUSP9	23	152915673	Frame_Shift_Ins	INS	-	TCGA-CD-8535-01A-11D-2340-08	2075426	152915673	2354887	300	81816	410	2									
DUSP9	1852	broad.mit.edu	37	chrX	152915674	152915675	+	Frame_Shift_Ins	INS	-	-	G													ctcgcaggagcagggcagtgINSgggggcaggcatctgcggcc							TCGA-CD-8535-01A-11D-2340-08	TCGA-CD-8535-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bf27b50-c850-413f-8c3c-c70f47612721	10b5ccce-a8cf-45c5-bef4-4b452366c67e	g.chrX:152915673_152915674T>TG	uc004fhx.4	+	3	1272_1273	c.1068_1069T>TG	c.(1066-1071)agtgggfs	p.S356fs	DUSP9_uc004fhy.4_Frame_Shift_Ins_p.S356fs	NM_001395	NP_001386	Q99956	DUS9_HUMAN	Homo sapiens dual specificity phosphatase 9 (DUSP9), mRNA.	356	Tyrosine-protein phosphatase.				JNK cascade|inactivation of MAPK activity	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.S356I(1)|p.G355S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGGGCAGTGGGGGGCAGGC	0.658													G	152915675	-	G	152915674	7	5	151	1	0	1	1	0	0	0	0	0	4832	1348	47	0	1079	0	DUSP9	23	152915674	Frame_Shift_Ins	INS	-	TCGA-CD-8535-01A-11D-2340-08	1	152915674	2354886	301	81817	410	2									
ACAP3	116983	broad.mit.edu	37	chr1	1229851	1229851	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagttgacctcggccccGtgggccagcgccgccgccag	14	19	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:1229851G>A	uc001aeb.2	-	21	2144	c.2070C>T	c.(2068-2070)CAC>CAT	p.H690H	ACAP3_uc001ady.2_Silent_p.H420H|ACAP3_uc001aea.2_Silent_p.H615H	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH	690					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding				0						CCTCGGCCCCGTGGGCCAGCG	0.771													A	1229851	G	A	1229851	2	1	152	1	0	0	0	0	0	0	0	1	120	1136	40	1		1	ACAP3	1	1229851	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08		1229851	248020770	1	81818											
DVL1	1855	broad.mit.edu	37	chr1	1273940	1273940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgatcttgagccacatgCggtcgcggatctccagtccc	12	13	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:1273940C>T	uc001aer.3	-	12	1273	c.1226G>A	c.(1225-1227)CGC>CAC	p.R409H	DVL1_uc002quu.2_Missense_Mutation_p.R151H|DVL1_uc009vka.2_Missense_Mutation_p.R92H|DVL1_uc001aeu.1_Missense_Mutation_p.R168H	NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	434	DEP.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GAGCCACATGCGGTCGCGGAT	0.657													T	1273940	C	T	1273940	3	4	152	1	0	0	0	0	1	0	0	0	4835	768	27	1	802	1	DVL1	1	1273940	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	44089	1273940	247976681	2	81819											
GNB1	2782	broad.mit.edu	37	chr1	1735886	1735886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccagctcacgactcacGcgcacgttcccctcacgagt	8	19	3	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:1735886G>A	uc001aif.2	-	7	734	c.402C>T	c.(400-402)CGC>CGT	p.R134R	GNB1_uc009vky.2_Silent_p.R34R	NM_002074	NP_002065	P62873	GBB1_HUMAN	guanine nucleotide-binding protein, beta-1	134					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CACGACTCACGCGCACGTTCC	0.498													A	1735886	G	A	1735886	2	1	152	1	0	0	0	0	0	0	0	1	6515	1074	38	1		1	GNB1	1	1735886	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	461946	1735886	247514735	3	81820											
CHD5	26038	broad.mit.edu	37	chr1	6189026	6189026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggtgagcatcatcttgCgcttggccacctgcgtgatg	15	10	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:6189026C>T	uc001amb.1	-	23	3591	c.3491G>A	c.(3490-3492)CGC>CAC	p.R1164H	CHD5_uc001alz.1_Missense_Mutation_p.R21H|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1164	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CATCATCTTGCGCTTGGCCAC	0.642													T	6189026	C	T	6189026	3	4	152	1	0	0	0	0	1	0	0	0	3328	768	27	1	2449	1	CHD5	1	6189026	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	4453140	6189026	243061595	4	81821											
ACOT7	11332	broad.mit.edu	37	chr1	6341341	6341341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcccgagatggtgatgaCgcagcctgtggagaagggag	18	8	0	4			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:6341341C>T	uc001ams.2	-	8	1022	c.865G>A	c.(865-867)GTC>ATC	p.V289I	ACOT7_uc010nzq.1_Missense_Mutation_p.V174I|ACOT7_uc001amt.2_Missense_Mutation_p.V279I|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA|ACOT7_uc001amq.2_Missense_Mutation_p.V238I|ACOT7_uc001amr.2_Missense_Mutation_p.V259I	NM_181864	NP_863654	O00154	BACH_HUMAN	acyl-CoA thioesterase 7 isoform hBACHb	289	Acyl coenzyme A hydrolase 2.					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity				0	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		ATGGTGATGACGCAGCCTGTG	0.632													T	6341341	C	T	6341341	3	4	152	1	0	0	0	0	1	0	0	0	155	536	19	1	285	1	ACOT7	1	6341341	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	152315	6341341	242909280	5	81822											
CLSTN1	22883	broad.mit.edu	37	chr1	9804004	9804004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcagaaggatcctgacGgaagaggaagatcagccggc	13	11	2	4			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:9804004G>A	uc001aqh.2	-	9	2053	c.1294C>T	c.(1294-1296)CGT>TGT	p.R432C	CLSTN1_uc001aqi.2_Missense_Mutation_p.R422C|CLSTN1_uc010oag.1_Missense_Mutation_p.R432C	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	432	Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GGATCCTGACGGAAGAGGAAG	0.438													A	9804004	G	A	9804004	3	1	152	1	0	0	0	0	1	0	0	0	3561	1116	39	1	1695	1	CLSTN1	1	9804004	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	3462663	9804004	239446617	6	81823											
UBE4B	10277	broad.mit.edu	37	chr1	10197220	10197220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctattctgcctagttgcCgtcgctatatccgcagactc	7	14	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:10197220C>T	uc001aqs.3	+	17	3033	c.2320C>T	c.(2320-2322)CGT>TGT	p.R774C	UBE4B_uc001aqr.3_Missense_Mutation_p.R645C|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.R229C|UBE4B_uc001aqt.1_Missense_Mutation_p.R114C	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	774					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GCCTAGTTGCCGTCGCTATAT	0.532													T	10197220	C	T	10197220	3	4	152	1	0	0	0	0	1	0	0	0	16880	652	23	1	2386	1	UBE4B	1	10197220	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	393216	10197220	239053401	7	81824											
PGD	5226	broad.mit.edu	37	chr1	10477528	10477528	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggactctcaattatggtggCatcgccctgatgtggagagg	14	8	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:10477528C>G	uc001arc.2	+	10	1161	c.1071C>G	c.(1069-1071)GGC>GGG	p.G357G	PGD_uc001ard.2_Silent_p.G277G|PGD_uc010oak.1_Silent_p.G335G|PGD_uc010oal.1_Silent_p.G344G	NM_002631	NP_002622	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	357					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			ovary(1)	1	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		ATTATGGTGGCATCGCCCTGA	0.547													G	10477528	C	G	10477528	2	3	152	1	0	0	0	0	0	0	0	1	11787	697	25	5		5	PGD	1	10477528	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	280308	10477528	238773093	8	81825											
TNFRSF1B	7133	broad.mit.edu	37	chr1	12251939	12251939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgccggctgtgcgcgcCgctgcgcaagtgccgcccgg	19	15	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:12251939C>T	uc001att.2	+	4	505	c.416C>T	c.(415-417)CCG>CTG	p.P139L	TNFRSF1B_uc001atu.2_5'UTR|TNFRSF1B_uc009vnk.2_RNA	NM_001066	NP_001057	P20333	TNR1B_HUMAN	tumor necrosis factor receptor 2 precursor	139	TNFR-Cys 3.|Extracellular (Potential).				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			liver(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	CTGTGCGCGCCGCTGCGCAAG	0.682													T	12251939	C	T	12251939	3	4	152	1	0	0	0	0	1	0	0	0	16291	652	23	1	430	1	TNFRSF1B	1	12251939	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1774411	12251939	236998682	9	81826											
AGMAT	79814	broad.mit.edu	37	chr1	15900200	15900200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcaaacagcaggttagcCgccagcagggctgtgttccc	11	13	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:15900200C>T	uc001awv.1	-	7	1148	c.1005G>A	c.(1003-1005)GCG>GCA	p.A335A	DNAJC16_uc001awu.2_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase) precursor	335					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			skin(1)	1		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGTTAGCCGCCAGCAGGG	0.507													T	15900200	C	T	15900200	2	4	152	1	0	0	0	0	0	0	0	1	385	639	23	1		1	AGMAT	1	15900200	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	3648261	15900200	233350421	10	81827											
SPEN	23013	broad.mit.edu	37	chr1	16199481	16199481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatgaaccaggcaccatccCgagtgctgctcggggattgg	13	11	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:16199481C>T	uc001axk.1	+	2	458	c.254C>T	c.(253-255)CCG>CTG	p.P85L	SPEN_uc010obp.1_5'Flank	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	85	By similarity.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGCACCATCCCGAGTGCTGCT	0.502													T	16199481	C	T	16199481	3	4	152	1	0	0	0	0	1	0	0	0	15037	652	23	1	260	1	SPEN	1	16199481	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	299281	16199481	233051140	11	81828											
CLCNKB	1188	broad.mit.edu	37	chr1	16375710	16375710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcggggccttcatgttcCggctcctggcggtcttcaac	12	15	3	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:16375710C>T	uc001axw.3	+	8	831	c.751C>T	c.(751-753)CGG>TGG	p.R251W	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.R251W|CLCNKB_uc001axy.3_Missense_Mutation_p.R82W	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	251	Helical; (Potential).				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCATGTTCCGGCTCCTGGC	0.622													T	16375710	C	T	16375710	3	4	152	1	0	0	0	0	1	0	0	0	3470	643	23	1	925	1	CLCNKB	1	16375710	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	176229	16375710	232874911	12	81829											
ARHGEF10L	55160	broad.mit.edu	37	chr1	18023430	18023430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcccctgacatcctgcGgagtgaccaggaggaggctg	15	13	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:18023430G>A	uc001ban.2	+	29	3554	c.3395G>A	c.(3394-3396)CGG>CAG	p.R1132Q	ARHGEF10L_uc001bao.2_Missense_Mutation_p.R1093Q|ARHGEF10L_uc001bap.2_Missense_Mutation_p.R1088Q|ARHGEF10L_uc001baq.2_Missense_Mutation_p.R893Q|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.R905Q|ARHGEF10L_uc001bar.2_Missense_Mutation_p.R835Q|ARHGEF10L_uc009vpf.2_RNA|ARHGEF10L_uc001bas.2_Missense_Mutation_p.R156Q	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	1132					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GACATCCTGCGGAGTGACCAG	0.657											OREG0013156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	18023430	G	A	18023430	3	1	152	1	0	0	0	0	1	0	0	0	895	1116	39	1	3505	1	ARHGEF10L	1	18023430	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1647720	18023430	231227191	13	81830											
ARHGEF10L	55160	broad.mit.edu	37	chr1	18023576	18023576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaccgcctgcgctccaccGcacacctcccgggcccgctg	10	21	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:18023576G>A	uc001ban.2	+	29	3700	c.3541G>A	c.(3541-3543)GCA>ACA	p.A1181T	ARHGEF10L_uc001bao.2_Missense_Mutation_p.A1142T|ARHGEF10L_uc001bap.2_Missense_Mutation_p.A1137T|ARHGEF10L_uc001baq.2_Missense_Mutation_p.A942T|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.A954T|ARHGEF10L_uc001bar.2_Missense_Mutation_p.A884T|ARHGEF10L_uc009vpf.2_RNA|ARHGEF10L_uc001bas.2_Missense_Mutation_p.A205T	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	1181					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCGCTCCACCGCACACCTCCC	0.682													A	18023576	G	A	18023576	3	1	152	1	0	0	0	0	1	0	0	0	895	1087	38	1	3651	1	ARHGEF10L	1	18023576	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	146	18023576	231227045	14	81831											
ACTL8	81569	broad.mit.edu	37	chr1	18149783	18149783	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaaccacagacgggagcaaGaggtcccccctgtgatcatc	11	13	1	4			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:18149783G>T	uc001bat.2	+	2	496	c.280G>T	c.(280-282)GAG>TAG	p.E94*		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	actin-like 8	94						cytoplasm|cytoskeleton				ovary(4)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		ACGGGAGCAAGAGGTCCCCCC	0.617													T	18149783	G	T	18149783	4	4	152	1	0	0	0	0	0	1	0	0	202	943	33	5	282	5	ACTL8	1	18149783	Nonsense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	126207	18149783	231100838	15	81832											
HSPG2	3339	broad.mit.edu	37	chr1	22160048	22160048	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgtcctggggtcggacTgagggcagcatcagcatgtt	15	11	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:22160048T>C	uc001bfj.2	-	79	10930	c.10890A>G	c.(10888-10890)TCA>TCG	p.S3630S	HSPG2_uc001bfi.2_5'Flank|HSPG2_uc009vqd.2_Silent_p.S3631S	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3630	Ig-like C2-type 22.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGGTCGGACTGAGGGCAGCA	0.627													C	22160048	T	C	22160048	2	2	152	1	0	0	0	0	0	0	0	1	7430	1567	55	3		3	HSPG2	1	22160048	Silent	SNP	T	TCGA-CD-8536-01A-11D-2340-08	4010265	22160048	227090573	16	81833											
HSPG2	3339	broad.mit.edu	37	chr1	22217179	22217179	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgaaattcaccagggctcGgaaataaactggaaaatcga	10	7	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:22217179G>A	uc001bfj.2	-	4	293	c.253C>T	c.(253-255)CGA>TGA	p.R85*	HSPG2_uc009vqd.2_Nonsense_Mutation_p.R85*|HSPG2_uc009vqe.1_Intron	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	85	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACCAGGGCTCGGAAATAAACT	0.552													A	22217179	G	A	22217179	4	1	152	1	0	0	0	0	0	1	0	0	7430	1124	39	1	13298	1	HSPG2	1	22217179	Nonsense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	57131	22217179	227033442	17	81834											
CELA3B	23436	broad.mit.edu	37	chr1	22313154	22313154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgttcactcgagtctccgCcttcattgactggattgagg	12	10	3	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:22313154C>T	uc001bfk.2	+	7	888	c.773C>T	c.(772-774)GCC>GTC	p.A258V	CELA3B_uc009vqf.2_Intron	NM_007352	NP_031378	P08861	CEL3B_HUMAN	elastase 3B, pancreatic preproprotein	258	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						CGAGTCTCCGCCTTCATTGAC	0.597													T	22313154	C	T	22313154	3	4	152	1	0	0	0	0	1	0	0	0	3214	739	26	2	799	2	CELA3B	1	22313154	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	95975	22313154	226937467	18	81835											
MYOM3	127294	broad.mit.edu	37	chr1	24392467	24392467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggaagaaccactgaaagcGagtctccttcttggtgttgg	12	9	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:24392467G>A	uc001bin.3	-	29	3611	c.3448C>T	c.(3448-3450)CGC>TGC	p.R1150C	MYOM3_uc001bil.3_Missense_Mutation_p.R43C|MYOM3_uc001bim.3_Missense_Mutation_p.R807C|MYOM3_uc001bio.2_Missense_Mutation_p.R1150C	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	1150	Ig-like C2-type 3.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CACTGAAAGCGAGTCTCCTTC	0.517													A	24392467	G	A	24392467	3	1	152	1	0	0	0	0	1	0	0	0	10093	1058	37	1	901	1	MYOM3	1	24392467	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2079313	24392467	224858154	19	81836											
MYOM3	127294	broad.mit.edu	37	chr1	24400702	24400702	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatcggcatcagtgacTatgactgagtaggtgcccaa	10	10	3	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:24400702T>C	uc001bin.3	-	23	3079	c.2916A>G	c.(2914-2916)ATA>ATG	p.I972M	MYOM3_uc001bim.3_Missense_Mutation_p.I629M|MYOM3_uc001bio.2_Missense_Mutation_p.I972M	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	972										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CATCAGTGACTATGACTGAGT	0.587													C	24400702	T	C	24400702	3	2	152	1	0	0	0	0	1	0	0	0	10093	1512	53	3	1457	3	MYOM3	1	24400702	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	8235	24400702	224849919	20	81837											
MYOM3	127294	broad.mit.edu	37	chr1	24401807	24401807	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctcctctcgcctcacttActtgttaactttatcctcga	3	14	3	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:24401807A>G	uc001bin.3	-	22	3021	c.2858_splice	c.e22+1	p.K953_splice	MYOM3_uc001bim.3_Splice_Site_p.K610_splice|MYOM3_uc001bio.2_Splice_Site_p.K953_splice	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3											skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CGCCTCACTTACTTGTTAACT	0.567													G	24401807	A	G	24401807	5	3	152	1	0	0	0	0	0	0	1	0	10093	405	14	3	1517	3	MYOM3	1	24401807	Splice_Site	SNP	A	TCGA-CD-8536-01A-11D-2340-08	1105	24401807	224848814	21	81838											
MYOM3	127294	broad.mit.edu	37	chr1	24411132	24411132	+	Splice_Site	DEL	A	A	-													ctggaggagggagggtagctAaaaaatagaaacatgggctg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:24411131_24411131TA>T	uc001bin.4	-	16	1962	c.1799_splice	c.e16-1	p.A600_splice	MYOM3_uc001bim.4_Splice_Site_p.A257_splice|MYOM3_uc001bio.3_Splice_Site_p.A600_splice|MYOM3_uc001bip.1_Intron	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	600										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGAGGGTAGCTAAAAAATAGA	0.542													-	24411132	A	-	24411132	8	5	152	1	0	1	0	1	0	0	1	0	10093	377	13	0		0	MYOM3	1	24411132	Splice_Site	DEL	A	TCGA-CD-8536-01A-11D-2340-08	9325	24411132	224839489	22	81839											
RHCE	6006	broad.mit.edu	37	chr1	25747161	25747161	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccacgagccccttttgatcCtctaaggaagcgtcatagtg	10	12	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:25747161C>A	uc001bkf.2	-	1	203	c.117G>T	c.(115-117)GAG>GAT	p.E39D	RHCE_uc001bkg.2_Missense_Mutation_p.E39D|RHCE_uc001bkh.2_Missense_Mutation_p.E39D|RHCE_uc001bki.2_Missense_Mutation_p.E39D|RHCE_uc001bkj.2_Intron	NM_020485	NP_065231	P18577	RHCE_HUMAN	Rhesus blood group, CcEe antigens isoform 1	39						integral to plasma membrane					0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTTTGATCCTCTAAGGAAG	0.557													A	25747161	C	A	25747161	3	1	152	1	0	0	0	0	1	0	0	0	13325	680	24	5	1176	5	RHCE	1	25747161	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1336029	25747161	223503460	23	81840											
PAFAH2	5051	broad.mit.edu	37	chr1	26310481	26310481	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttctccccttcctcaactcGacggaaagggatccattcct	6	16	2	0	rs144717482		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:26310481G>A	uc001bld.3	-	6	688	c.508C>T	c.(508-510)CGA>TGA	p.R170*	PAFAH2_uc001ble.3_Nonsense_Mutation_p.R170*	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2	170					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			ovary(2)	2		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTCAACTCGACGGAAAGGG	0.537													A	26310481	G	A	26310481	4	1	152	1	0	0	0	0	0	1	0	0	11387	1066	37	1	694	1	PAFAH2	1	26310481	Nonsense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	563320	26310481	222940140	24	81841											
ARID1A	8289	broad.mit.edu	37	chr1	27087443	27087443	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccagcagccaaggagagCagagtaatccagctcagtct	10	11	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:27087443C>T	uc001bmv.1	+	5	2390	c.2017C>T	c.(2017-2019)CAG>TAG	p.Q673*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q673*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q673*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q290*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	673					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAAGGAGAGCAGAGTAATCC	0.572			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								T	27087443	C	T	27087443	4	4	152	1	0	0	0	0	0	1	0	0	913	711	25	2	2035	2	ARID1A	1	27087443	Nonsense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	776962	27087443	222163178	25	81842											
ARID1A	8289	broad.mit.edu	37	chr1	27097622	27097622	+	Frame_Shift_Del	DEL	A	A	-													ttatacaggtcaacaagaacAaaaaatggcgggaacttgca							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:27097621_27097621CA>C	uc001bmv.1	+	11	3583	c.3210_3210CA>C	c.(3208-3210)aacfs	p.N1070fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.N1070fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.N1070fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.N687fs|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1070	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCAACAAGAACAAAAAATGGC	0.483			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27097622	A	-	27097622	7	5	152	1	0	1	0	1	0	0	0	0	913	131	5	0	3257	0	ARID1A	1	27097622	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	10179	27097622	222152999	26	81843											
DNAJC8	22826	broad.mit.edu	37	chr1	28534906	28534907	+	Frame_Shift_Ins	INS	-	-	T													tttccttccttctttaattgINStttttttcgctctttcacct							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:28534906_28534907insT	uc001bpn.2	-	6	450_451	c.417_418insA	c.(415-420)AAACAAfs	p.K139fs	DNAJC8_uc001bpo.2_RNA	NM_014280	NP_055095	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	139_140					nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTTTAATTGTTTTTTTCGCT	0.351													T	28534907	-	T	28534906	7	5	152	1	0	1	1	0	0	0	0	0	4655	1386	48	0	359	0	DNAJC8	1	28534906	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	1437284	28534906	220715715	27	81844	411	2									
DNAJC8	22826	broad.mit.edu	37	chr1	28534907	28534908	+	Frame_Shift_Ins	INS	-	-	T													ttccttccttctttaattgtINSttttttcgctctttcaccta							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:28534906_28534907G>GT	uc001bpn.3	-	5	450_451	c.417_418C>AC	c.(415-420)aaacaafs	p.K139fs	DNAJC8_uc001bpo.3_Non-coding_Transcript	NM_014280	NP_055095	O75937	DNJC8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 8 (DNAJC8), mRNA.	139					nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTTTAATTGTTTTTTTCGCT	0.351													T	28534908	-	T	28534907	7	5	152	1	0	1	1	0	0	0	0	0	4655	1722	60	0	360	0	DNAJC8	1	28534907	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	1	28534907	220715714	28	81845	411	2									
YTHDF2	51441	broad.mit.edu	37	chr1	29064825	29064828	+	Frame_Shift_Del	DEL	CTTA	CTTA	-													aaacgatgatgattttgaacCttacttgagtccacaggcaa							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:29064824_29064827CCTTA>C	uc021okf.1	+	3	369_372	c.106_109CCTTA>C	c.(106-111)ccttacfs	p.P36fs	YTHDF2_uc001brc.3_Frame_Shift_Del_p.P36fs|YTHDF2_uc010ofx.2_5'UTR|YTHDF2_uc001bre.3_5'UTR	NM_001173128	NP_001166299	Q9Y5A9	YTHD2_HUMAN	Homo sapiens YTH domain family, member 2 (YTHDF2), transcript variant 2, mRNA.	36					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TGATTTTGAACCTTACTTGAGTCC	0.363													-	29064828	CTTA	-	29064825	7	5	152	1	0	1	0	1	0	0	0	0	17496	681	24	0	117	0	YTHDF2	1	29064825	Frame_Shift_Del	DEL	CTTA	TCGA-CD-8536-01A-11D-2340-08	529918	29064825	220185796	29	81846											
PUM1	9698	broad.mit.edu	37	chr1	31532098	31532100	+	In_Frame_Del	DEL	TAT	TAT	-													agtaggccatcgatgtttgcTattattatagccgcctcctc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:31532097_31532099CTAT>C	uc001bsi.1	-	1	428_430	c.315_317ATAG>G	c.(313-318)aatagc>aaGc	p.105_106NS>K	PUM1_uc001bsh.1_In_Frame_Del_p.105_106NS>K|PUM1_uc001bsj.1_In_Frame_Del_p.105_106NS>K|PUM1_uc010oga.1_In_Frame_Del_p.105_106NS>K|PUM1_uc001bsk.1_In_Frame_Del_p.141_142NS>K|PUM1_uc010ogb.1_In_Frame_Del_p.141_142NS>K	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	105					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TCGATGTTTGCTATTATTATAGC	0.468													-	31532100	TAT	-	31532098	7	5	152	1	0	1	0	1	0	0	0	0	12825	1522	53	0	3334	0	PUM1	1	31532098	In_Frame_Del	DEL	TAT	TCGA-CD-8536-01A-11D-2340-08	2467273	31532098	217718523	30	81847											
HCRTR1	3061	broad.mit.edu	37	chr1	32086580	32086580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgggcatctgggctgtgtCgctggccatcatggtgcccc	14	14	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:32086580C>T	uc009vtx.2	+	5	900	c.515C>T	c.(514-516)TCG>TTG	p.S172L	HCRTR1_uc001btb.2_5'UTR|HCRTR1_uc001btc.3_Missense_Mutation_p.S86L|HCRTR1_uc001btd.2_Missense_Mutation_p.S172L|HCRTR1_uc010ogl.1_Missense_Mutation_p.S172L	NM_001525	NP_001516	O43613	OX1R_HUMAN	orexin receptor 1	172	Helical; Name=4; (Potential).				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				ovary(1)	1		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TGGGCTGTGTCGCTGGCCATC	0.617													T	32086580	C	T	32086580	3	4	152	1	0	0	0	0	1	0	0	0	7001	893	31	1	525	1	HCRTR1	1	32086580	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	554482	32086580	217164041	31	81848											
TXLNA	200081	broad.mit.edu	37	chr1	32653571	32653571	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagctggaggagcaccggaAttcacagaagcagatgaagc	13	10	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:32653571A>C	uc001bui.2	+	5	679	c.614A>C	c.(613-615)AAT>ACT	p.N205T	TXLNA_uc001buj.2_Missense_Mutation_p.N205T	NM_175852	NP_787048	P40222	TXLNA_HUMAN	taxilin	205	Potential.				cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GAGCACCGGAATTCACAGAAG	0.607													C	32653571	A	C	32653571	3	2	152	1	0	0	0	0	1	0	0	0	16784	101	4	5	628	5	TXLNA	1	32653571	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	566991	32653571	216597050	32	81849											
EIF3I	8668	broad.mit.edu	37	chr1	32694368	32694368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacatcagaagactttccGgacagaacgtcctgtcaact	8	11	2	4			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:32694368G>A	uc001bur.3	+	9	1213	c.680G>A	c.(679-681)CGG>CAG	p.R227Q	EIF3I_uc009vuc.2_Missense_Mutation_p.R227Q|EIF3I_uc001bus.2_Missense_Mutation_p.R179Q	NM_003757	NP_003748	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3,	227						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				AAGACTTTCCGGACAGAACGT	0.532													A	32694368	G	A	32694368	3	1	152	1	0	0	0	0	1	0	0	0	5019	1116	39	1	710	1	EIF3I	1	32694368	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	40797	32694368	216556253	33	81850											
ZBTB8A	653121	broad.mit.edu	37	chr1	33059154	33059154	+	Frame_Shift_Del	DEL	A	A	-													aaccaaggaaagagtccattAaaaagaccaaacatttgaga							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:33059153_33059153TA>T	uc001bvn.3	+	2	1106	c.621_621TA>T	c.(619-621)attfs	p.I207fs	ZBTB8A_uc001bvk.3_Non-coding_Transcript|ZBTB8A_uc001bvm.3_Frame_Shift_Del_p.I207fs	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN	Homo sapiens zinc finger and BTB domain containing 8A (ZBTB8A), mRNA.	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						AAGAGTCCATTAAAAAGACCA	0.378													-	33059154	A	-	33059154	7	5	152	1	0	1	0	1	0	0	0	0	17553	363	13	0	624	0	ZBTB8A	1	33059154	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	364786	33059154	216191467	34	81851											
S100PBP	64766	broad.mit.edu	37	chr1	33292201	33292201	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gataaggacgagactgattcGtccaaagatactgaaaaact	9	7	0	4	rs12092326		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:33292201G>A	uc001bvz.2	+	3	778	c.501G>A	c.(499-501)TCG>TCA	p.S167S	S100PBP_uc001bwa.1_Silent_p.S167S|S100PBP_uc001bwb.1_Silent_p.S167S|S100PBP_uc001bwc.2_Silent_p.S167S|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	167						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGACTGATTCGTCCAAAGATA	0.393													A	33292201	G	A	33292201	2	1	152	1	0	0	0	0	0	0	0	1	13791	1132	40	1		1	S100PBP	1	33292201	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	233047	33292201	215958420	35	81852											
S100PBP	64766	broad.mit.edu	37	chr1	33292405	33292405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgacagtgagaaccctacGtctgtattctctcggatctc	8	13	3	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:33292405G>A	uc001bvz.2	+	3	982	c.705G>A	c.(703-705)ACG>ACA	p.T235T	S100PBP_uc001bwa.1_Silent_p.T235T|S100PBP_uc001bwb.1_Silent_p.T235T|S100PBP_uc001bwc.2_Silent_p.T235T|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	235						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGAACCCTACGTCTGTATTCT	0.433													A	33292405	G	A	33292405	2	1	152	1	0	0	0	0	0	0	0	1	13791	1132	40	1		1	S100PBP	1	33292405	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	204	33292405	215958216	36	81853											
TRIM62	55223	broad.mit.edu	37	chr1	33625499	33625499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgcagcagccggtgcagcCgctcgaaggcctcgccgata	13	16	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:33625499C>T	uc001bxb.2	-	3	1189	c.551G>A	c.(550-552)CGG>CAG	p.R184Q		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	184	Potential.					intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)				CCGGTGCAGCCGCTCGAAGGC	0.652													T	33625499	C	T	33625499	3	4	152	1	0	0	0	0	1	0	0	0	16534	652	23	1	888	1	TRIM62	1	33625499	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	333094	33625499	215625122	37	81854											
SFPQ	6421	broad.mit.edu	37	chr1	35652837	35652837	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcctccgccacccattcGcatgtctctttcccgctgca	6	19	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:35652837G>A	uc001bys.2	-	8	1924	c.1831C>T	c.(1831-1833)CGA>TGA	p.R611*	SFPQ_uc001byr.2_RNA	NM_005066	NP_005057	P23246	SFPQ_HUMAN	splicing factor proline/glutamine rich	611					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|protein binding|RNA binding		SFPQ/TFE3(6)	kidney(4)|soft_tissue(2)|ovary(1)|skin(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCACCCATTCGCATGTCTCTT	0.383			T	TFE3	papillary renal cell								A	35652837	G	A	35652837	4	1	152	1	0	0	0	0	0	1	0	0	14160	1095	38	1	304	1	SFPQ	1	35652837	Nonsense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2027338	35652837	213597784	38	81855											
EIF2C1	26523	broad.mit.edu	37	chr1	36359342	36359342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacccgctggggggtgggCgcgaggtctggttcggcttt	18	11	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:36359342C>T	uc001bzl.2	+	5	793	c.580C>T	c.(580-582)CGC>TGC	p.R194C	EIF2C1_uc001bzk.2_Missense_Mutation_p.R119C|EIF2C1_uc009vuy.2_5'Flank	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	194					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGGGGGTGGGCGCGAGGTCTG	0.632													T	36359342	C	T	36359342	3	4	152	1	0	0	0	0	1	0	0	0	5005	768	27	1	598	1	EIF2C1	1	36359342	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	706505	36359342	212891279	39	81856											
EIF2C1	26523	broad.mit.edu	37	chr1	36367669	36367669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcttgcagtacggcggcCgggtgagcagggtcagggcc	17	12	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:36367669C>T	uc001bzl.2	+	10	1474	c.1261C>T	c.(1261-1263)CGG>TGG	p.R421W	EIF2C1_uc001bzk.2_Missense_Mutation_p.R346W|EIF2C1_uc009vuy.2_Intron	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	421					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTACGGCGGCCGGGTGAGCAG	0.587													T	36367669	C	T	36367669	3	4	152	1	0	0	0	0	1	0	0	0	5005	643	23	1	1299	1	EIF2C1	1	36367669	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	8327	36367669	212882952	40	81857											
MAP7D1	55700	broad.mit.edu	37	chr1	36644173	36644173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcgcgaggagcaggagcGgaggctgcaggcagaaaggg	22	7	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:36644173G>A	uc001bzz.2	+	10	2078	c.1862G>A	c.(1861-1863)CGG>CAG	p.R621Q	MAP7D1_uc001caa.2_Missense_Mutation_p.R589Q|MAP7D1_uc001cab.2_Missense_Mutation_p.R584Q|MAP7D1_uc001cac.2_Missense_Mutation_p.R321Q|MAP7D1_uc001cad.2_Missense_Mutation_p.R158Q	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	621	Potential.					cytoplasm|spindle		p.R621R(1)		ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)				GAGCAGGAGCGGAGGCTGCAG	0.677													A	36644173	G	A	36644173	3	1	152	1	0	0	0	0	1	0	0	0	9267	1116	39	1	1900	1	MAP7D1	1	36644173	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	276504	36644173	212606448	41	81858											
THRAP3	9967	broad.mit.edu	37	chr1	36755130	36755130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagatccaaaaaggaagatCggggcaagagaagcgaaggt	15	5	0	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:36755130C>T	uc001cae.3	+	5	1734	c.1510C>T	c.(1510-1512)CGG>TGG	p.R504W	THRAP3_uc001caf.3_Missense_Mutation_p.R504W|THRAP3_uc001cag.1_Missense_Mutation_p.R504W	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	504					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAAGGAAGATCGGGGCAAGAG	0.517			T	USP6	aneurysmal bone cysts								T	36755130	C	T	36755130	3	4	152	1	0	0	0	0	1	0	0	0	15871	875	31	1	1520	1	THRAP3	1	36755130	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	110957	36755130	212495491	42	81859											
PABPC4	8761	broad.mit.edu	37	chr1	40030821	40030821	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccacccgctgcaggctggAactgatttaagatggcattg	12	10	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:40030821A>G	uc010oiv.1	-	8	2100	c.1202T>C	c.(1201-1203)TTC>TCC	p.F401S	PABPC4_uc001cdl.2_Missense_Mutation_p.F401S|PABPC4_uc001cdm.2_Missense_Mutation_p.F401S	NM_003819	NP_003810	Q13310	PABP4_HUMAN	poly A binding protein, cytoplasmic 4 isoform 2	401					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding				0	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGCAGGCTGGAACTGATTTAA	0.552													G	40030821	A	G	40030821	3	3	152	1	0	0	0	0	1	0	0	0	11366	246	9	3	812	3	PABPC4	1	40030821	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	3275691	40030821	209219800	43	81860											
RIMS3	9783	broad.mit.edu	37	chr1	41107430	41107430	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccactgagtcaggcccacGatggccaccatcttggcacc	9	17	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:41107430G>A	uc001cfu.1	-	3	637	c.168C>T	c.(166-168)ATC>ATT	p.I56I	RIMS3_uc001cfv.1_Silent_p.I56I	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	56					neurotransmitter transport	cell junction|synapse					0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			TCAGGCCCACGATGGCCACCA	0.652													A	41107430	G	A	41107430	2	1	152	1	0	0	0	0	0	0	0	1	13369	1048	37	1		1	RIMS3	1	41107430	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1076609	41107430	208143191	44	81861											
SLFNL1	200172	broad.mit.edu	37	chr1	41483426	41483426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaccagcaggcgtgcgcGgtcctcgtcacggtggctgc	15	15	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:41483426G>A	uc001cgm.1	-	3	1058	c.838C>T	c.(838-840)CGC>TGC	p.R280C	SLFNL1_uc009vwf.1_Missense_Mutation_p.R280C|SLFNL1_uc001cgn.1_Missense_Mutation_p.R221C|SLFNL1_uc009vwg.1_Missense_Mutation_p.R280C	NM_144990	NP_659427	Q499Z3	SLNL1_HUMAN	schlafen-like 1	280				R -> S (in Ref. 3; AAH37879).			ATP binding			skin(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				AGGCGTGCGCGGTCCTCGTCA	0.637													A	41483426	G	A	41483426	3	1	152	1	0	0	0	0	1	0	0	0	14738	1116	39	1	397	1	SLFNL1	1	41483426	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	375996	41483426	207767195	45	81862											
LEPRE1	64175	broad.mit.edu	37	chr1	43220639	43220639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaatctcctgggagatgcGtacggctgtttcccgttctg	11	13	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:43220639G>A	uc001chv.2	-	8	1359	c.1246C>T	c.(1246-1248)CGC>TGC	p.R416C	LEPRE1_uc001chw.2_Missense_Mutation_p.R416C|LEPRE1_uc001chx.3_Missense_Mutation_p.R416C	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	416	Potential.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGGAGATGCGTACGGCTGTT	0.577													A	43220639	G	A	43220639	3	1	152	1	0	0	0	0	1	0	0	0	8729	1145	40	1	1015	1	LEPRE1	1	43220639	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1737213	43220639	206029982	46	81863											
MAST2	23139	broad.mit.edu	37	chr1	46499806	46499806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccctgctccacaccagcCgcagcctttcttcccttaac	4	20	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:46499806C>T	uc001cov.2	+	28	4019	c.3736C>T	c.(3736-3738)CGC>TGC	p.R1246C	MAST2_uc001cow.2_Missense_Mutation_p.R1245C|MAST2_uc001cpa.2_RNA	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	1246					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCACACCAGCCGCAGCCTTTC	0.592													T	46499806	C	T	46499806	3	4	152	1	0	0	0	0	1	0	0	0	9325	652	23	1	3846	1	MAST2	1	46499806	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	3279167	46499806	202750815	47	81864											
SPATA6	54558	broad.mit.edu	37	chr1	48917264	48917264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccaggatctactgcgtcCgggaacacctatagtgagac	10	12	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:48917264C>T	uc001crr.1	-	3	363	c.198G>A	c.(196-198)CCG>CCA	p.P66P	SPATA6_uc001crs.1_Silent_p.P66P|SPATA6_uc010omv.1_Silent_p.P66P|SPATA6_uc001crt.2_Intron	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6 precursor	66					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				ovary(1)	1						CTACTGCGTCCGGGAACACCT	0.363													T	48917264	C	T	48917264	2	4	152	1	0	0	0	0	0	0	0	1	15012	639	23	1		1	SPATA6	1	48917264	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	2417458	48917264	200333357	48	81865											
TTC22	55001	broad.mit.edu	37	chr1	55266656	55266656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggggcgctgcggggcggCcgccagctggagctcctgcc	19	15	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:55266656C>T	uc009vzt.1	-	1	286	c.181G>A	c.(181-183)GCC>ACC	p.A61T	TTC22_uc001cxz.3_Missense_Mutation_p.A61T	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22 isoform 1	61							binding				0						TGCGGGGCGGCCGCCAGCTGG	0.716													T	55266656	C	T	55266656	3	4	152	1	0	0	0	0	1	0	0	0	16686	739	26	2	1659	2	TTC22	1	55266656	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	6349392	55266656	193983965	49	81866											
FGGY	55277	broad.mit.edu	37	chr1	59787288	59787288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgttggaacaggcagtgtcCgtgcagctctggtggaccag	15	10	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:59787288C>T	uc001czi.3	+	2	279	c.67C>T	c.(67-69)CGT>TGT	p.R23C	FGGY_uc001czg.2_5'UTR|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.R23C|FGGY_uc001czj.3_Missense_Mutation_p.R23C|FGGY_uc001czk.3_Intron|FGGY_uc001czl.3_Missense_Mutation_p.R23C	NM_018291	NP_060761	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	23					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(1)	1	all_cancers(7;7.36e-05)					AGGCAGTGTCCGTGCAGCTCT	0.522													T	59787288	C	T	59787288	3	4	152	1	0	0	0	0	1	0	0	0	5871	652	23	1	69	1	FGGY	1	59787288	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	4520632	59787288	189463333	50	81867											
PGM1	5236	broad.mit.edu	37	chr1	64120083	64120083	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgccggggccaccattcgGctgtacatcgatagctatga	12	11	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:64120083G>A	uc001dbh.2	+	10	1758	c.1545G>A	c.(1543-1545)CGG>CGA	p.R515R	PGM1_uc010ooy.1_Silent_p.R318R|PGM1_uc010ooz.1_Silent_p.R533R	NM_002633	NP_002624	P36871	PGM1_HUMAN	phosphoglucomutase 1	515					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			ovary(2)|kidney(1)	3						CCACCATTCGGCTGTACATCG	0.542													A	64120083	G	A	64120083	2	1	152	1	0	0	0	0	0	0	0	1	11797	1190	42	2		2	PGM1	1	64120083	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	4332795	64120083	185130538	51	81868											
IFI44	10561	broad.mit.edu	37	chr1	79129487	79129487	+	Frame_Shift_Del	DEL	A	A	-													attatcaactgtgcacaaggAaaaaaatagatatgtgaaag							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:79129486_79129486GA>G	uc001dip.4	+	8	1449	c.1325_1325GA>G	c.(1324-1326)ggafs	p.G442fs		NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN	Homo sapiens interferon-induced protein 44 (IFI44), mRNA.	442					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TGTGCACAAGGAAAAAAATAG	0.358													-	79129487	A	-	79129487	7	5	152	1	0	1	0	1	0	0	0	0	7517	233	9	0	1356	0	IFI44	1	79129487	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	15009404	79129487	170121134	52	81869											
ODF2L	57489	broad.mit.edu	37	chr1	86824479	86824480	+	Frame_Shift_Ins	INS	-	-	T													ccaaacgtaccttctctacaINStttttatttttggtttttgt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:86824479_86824480insT	uc001dll.1	-	13	1689_1690	c.1349_1350insA	c.(1348-1350)AATfs	p.N450fs	ODF2L_uc001dlm.1_Frame_Shift_Ins_p.N421fs|ODF2L_uc001dln.2_Frame_Shift_Ins_p.N421fs|ODF2L_uc001dlo.2_Frame_Shift_Ins_p.N290fs|ODF2L_uc001dlp.2_Frame_Shift_Ins_p.N450fs|ODF2L_uc010osg.1_Frame_Shift_Ins_p.N421fs|ODF2L_uc001dlq.1_Frame_Shift_Ins_p.N251fs	NM_020729	NP_065780	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like isoform	450	Potential.					centrosome				ovary(1)	1				all cancers(265;0.0313)|Epithelial(280;0.0611)		CCTTCTCTACATTTTTATTTTT	0.248													T	86824480	-	T	86824479	7	5	152	1	0	1	1	0	0	0	0	0	10828	214	8	0	760	0	ODF2L	1	86824479	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	7694992	86824479	162426142	53	81870	412	2									
ODF2L	57489	broad.mit.edu	37	chr1	86824480	86824481	+	Frame_Shift_Ins	INS	-	-	T													caaacgtaccttctctacatINSttttatttttggtttttgtt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:86824479_86824480A>AT	uc001dll.2	-	12	1711_1712	c.1349_1350T>AT	c.(1348-1350)aatfs	p.N450fs	ODF2L_uc001dlp.3_Frame_Shift_Ins_p.N450fs|ODF2L_uc010osg.2_Frame_Shift_Ins_p.N421fs|ODF2L_uc001dlm.2_Frame_Shift_Ins_p.N421fs|ODF2L_uc021opg.1_Frame_Shift_Ins_p.N290fs|ODF2L_uc001dlq.2_Frame_Shift_Ins_p.N251fs	NM_001007022	NP_001007023	Q9ULJ1	ODF2L_HUMAN	Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA.	450						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CCTTCTCTACATTTTTATTTTT	0.248													T	86824481	-	T	86824480	7	5	152	1	0	1	1	0	0	0	0	0	10828	1493	52	0	761	0	ODF2L	1	86824480	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	1	86824480	162426141	54	81871	412	2									
FRRS1	391059	broad.mit.edu	37	chr1	100207793	100207793	+	Frame_Shift_Del	DEL	T	T	-													ccagtagactttaatttctgTttttttagatgcacttctgt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:100207792_100207792GT>G	uc001dsh.1	-	4	973	c.371_371AC>C	c.(370-372)acafs	p.T124fs		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA.	124	Reelin.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TTTAATTTCTGTTTTTTTAGA	0.428													-	100207793	T	-	100207793	7	5	152	1	0	1	0	1	0	0	0	0	6060	1725	60	0	1562	0	FRRS1	1	100207793	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	13383313	100207793	149042828	55	81872											
COL11A1	1301	broad.mit.edu	37	chr1	103474067	103474067	+	Frame_Shift_Del	DEL	C	C	-													ttggccccagatgaaccaggCcccccctatagagaaaaagt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:103474066_103474066GC>G	uc001dum.3	-	14	1990	c.1672_1672GC>C	c.(1672-1674)cctfs	p.P558fs	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Frame_Shift_Del_p.P546fs|COL11A1_uc001dun.3_Frame_Shift_Del_p.P507fs|COL11A1_uc009weh.3_Frame_Shift_Del_p.P430fs	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	546	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GATGAACCAGGCCCCCCCTAT	0.368													-	103474067	C	-	103474067	7	5	152	1	0	1	0	1	0	0	0	0	3667	726	26	0	3997	0	COL11A1	1	103474067	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	3266274	103474067	145776554	56	81873											
AMY2B	280	broad.mit.edu	37	chr1	104116341	104116341	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcaacaggtcagagattgTcgtctggttggtcttcttga	11	9	5	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:104116341T>G	uc001duq.2	+	6	1141	c.525T>G	c.(523-525)TGT>TGG	p.C175W	AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.C175W|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	175					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TCAGAGATTGTCGTCTGGTTG	0.363													G	104116341	T	G	104116341	3	3	152	1	0	0	0	0	1	0	0	0	595	1673	58	5	539	5	AMY2B	1	104116341	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	642274	104116341	145134280	57	81874											
CELSR2	1952	broad.mit.edu	37	chr1	109807188	109807188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacccttgtgactcaaaccCgtgtcctgctaacagctatt	7	13	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:109807188C>T	uc001dxa.3	+	11	5463	c.5402C>T	c.(5401-5403)CCG>CTG	p.P1801L		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1801	EGF-like 5; calcium-binding.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GACTCAAACCCGTGTCCTGCT	0.473													T	109807188	C	T	109807188	3	4	152	1	0	0	0	0	1	0	0	0	3222	652	23	1	5444	1	CELSR2	1	109807188	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	5690847	109807188	139443433	58	81875											
KCND3	3752	broad.mit.edu	37	chr1	112524339	112524339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcggcataaaacatcacaGtggcaaagatgatgatggcc	10	9	2	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:112524339G>A	uc001ebu.1	-	2	1490	c.1010C>T	c.(1009-1011)ACT>ATT	p.T337I	KCND3_uc001ebv.1_Missense_Mutation_p.T337I	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	337	Helical; Name=Segment S5; (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AAACATCACAGTGGCAAAGAT	0.547													A	112524339	G	A	112524339	3	1	152	1	0	0	0	0	1	0	0	0	8020	1029	36	4	985	4	KCND3	1	112524339	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2717151	112524339	136726282	59	81876											
KCND3	3752	broad.mit.edu	37	chr1	112525143	112525143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaagaactccttctccGtgctgcccagcagggtgtcc	11	13	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:112525143G>A	uc001ebu.1	-	2	686	c.206C>T	c.(205-207)ACG>ATG	p.T69M	KCND3_uc001ebv.1_Missense_Mutation_p.T69M	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	69	Cytoplasmic (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTCCTTCTCCGTGCTGCCCAG	0.612													A	112525143	G	A	112525143	3	1	152	1	0	0	0	0	1	0	0	0	8020	1145	40	1	1789	1	KCND3	1	112525143	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	804	112525143	136725478	60	81877											
NRAS	4893	broad.mit.edu	37	chr1	115252352	115252352	+	Splice_Site	DEL	A	A	-													actcgcttaatctgctccctAaaaacgggaatatattatca					rs66918093		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:115252351_115252351TA>T	uc009wgu.3	-	4	545	c.291_splice	c.e4-1	p.R97_splice		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	97					Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCTGCTCCCTAAAAACGGGA	0.443		50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			-	115252352	A	-	115252352	8	5	152	1	0	1	0	1	0	0	1	0	10640	377	13	0		0	NRAS	1	115252352	Splice_Site	DEL	A	TCGA-CD-8536-01A-11D-2340-08	2727209	115252352	133998269	61	81878											
CSDE1	7812	broad.mit.edu	37	chr1	115272943	115272943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtggcttctttttctaccGtgcccagaaaacggtgatct	9	10	3	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:115272943G>A	uc001efk.2	-	12	1758	c.1292C>T	c.(1291-1293)ACG>ATG	p.T431M	CSDE1_uc001efi.2_Missense_Mutation_p.T477M|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.T400M|CSDE1_uc001efm.2_Missense_Mutation_p.T446M|CSDE1_uc009wgv.2_Missense_Mutation_p.T431M|CSDE1_uc001efn.2_Missense_Mutation_p.T400M	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN	upstream of NRAS isoform 1	431					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTTTCTACCGTGCCCAGAAA	0.393													A	115272943	G	A	115272943	3	1	152	1	0	0	0	0	1	0	0	0	3929	1145	40	1	1140	1	CSDE1	1	115272943	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	20591	115272943	133977678	62	81879											
SYCP1	6847	broad.mit.edu	37	chr1	115399254	115399254	+	Frame_Shift_Del	DEL	A	A	-													ttgcaaagactaatctctccAaaaatggggaaaacattgat							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:115399253_115399253CA>C	uc001efr.3	+	2	377	c.168_168CA>C	c.(166-168)tccfs	p.S56fs	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Frame_Shift_Del_p.S56fs|SYCP1_uc009wgw.3_Frame_Shift_Del_p.S56fs	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	56	Asp/Glu-rich (acidic).				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)		CTAATCTCTCCAAAAATGGGG	0.328													-	115399254	A	-	115399254	7	5	152	1	0	1	0	1	0	0	0	0	15428	131	5	0	175	0	SYCP1	1	115399254	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	126311	115399254	133851367	63	81880											
CD58	965	broad.mit.edu	37	chr1	117078717	117078717	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atactggttgagttacgtttAcattgctccataggacaatc	8	8	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:117078717A>G	uc001egm.2	-	3	619	c.498T>C	c.(496-498)TGT>TGC	p.C166C	CD58_uc001egn.2_RNA|CD58_uc010owy.1_Silent_p.C166C|CD58_uc001ego.1_Intron|CD58_uc001egp.3_Silent_p.C166C	NM_001779	NP_001770	P19256	LFA3_HUMAN	CD58 molecule isoform 1	166	Extracellular (Potential).|Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding				0	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		AGTTACGTTTACATTGCTCCA	0.348													G	117078717	A	G	117078717	2	3	152	1	0	0	0	0	0	0	0	1	3025	389	14	3		3	CD58	1	117078717	Silent	SNP	A	TCGA-CD-8536-01A-11D-2340-08	1679463	117078717	132171904	64	81881											
NOTCH2	4853	broad.mit.edu	37	chr1	120480612	120480612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgtttttacatggagaccGactgcagagattcaccaggg	11	8	1	2	rs61752485		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:120480612G>A	uc001eik.2	-	20	3461	c.3205C>T	c.(3205-3207)CGG>TGG	p.R1069W	NOTCH2_uc001eil.2_Missense_Mutation_p.R1069W	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1069	EGF-like 28.|Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATGGAGACCGACTGCAGAGA	0.433			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				A	120480612	G	A	120480612	3	1	152	1	0	0	0	0	1	0	0	0	10548	1057	37	1	4270	1	NOTCH2	1	120480612	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	3401895	120480612	128770009	65	81882											
POLR3C	10623	broad.mit.edu	37	chr1	145608422	145608422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctccatggtctctgtgaGccggtctgccactttcttca	8	15	4	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:145608422G>A	uc001eoh.2	-	3	546	c.385C>T	c.(385-387)CTC>TTC	p.L129F	NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Missense_Mutation_p.L142F|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Missense_Mutation_p.L129F	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	129					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GTCTCTGTGAGCCGGTCTGCC	0.478													A	145608422	G	A	145608422	3	1	152	1	0	0	0	0	1	0	0	0	12230	971	34	2	1271	2	POLR3C	1	145608422	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	25127810	145608422	103642199	66	81883											
POLR3C	10623	broad.mit.edu	37	chr1	145608660	145608660	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acacacagggctttcttcacCtaaatggaacataaagagaa	7	9	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:145608660C>G	uc001eoh.2	-	3	309	c.148_splice	c.e3-1	p.V50_splice	NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Splice_Site_p.V63_splice|POLR3C_uc001eoi.2_Splice_Site|POLR3C_uc009wix.2_Splice_Site_p.V50_splice	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide						innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			CTTTCTTCACCTAAATGGAAC	0.438													G	145608660	C	G	145608660	5	3	152	1	0	0	0	0	0	0	1	0	12230	695	24	5	1509	5	POLR3C	1	145608660	Splice_Site	SNP	C	TCGA-CD-8536-01A-11D-2340-08	238	145608660	103641961	67	81884											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150526544	150526544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctctttgctcccagtagCcctattccaagatgttctgg	8	13	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:150526544C>T	uc001eux.2	+	6	1313	c.1077C>T	c.(1075-1077)AGC>AGT	p.S359S	ADAMTSL4_uc001euw.2_Silent_p.S359S|ADAMTSL4_uc009wlw.2_Silent_p.S359S|ADAMTSL4_uc010pcg.1_Silent_p.S359S	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	359					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTCCCAGTAGCCCTATTCCAA	0.662													T	150526544	C	T	150526544	2	4	152	1	0	0	0	0	0	0	0	1	277	738	26	2		2	ADAMTSL4	1	150526544	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	4917884	150526544	98724077	68	81885											
POGZ	23126	broad.mit.edu	37	chr1	151397496	151397496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcgtggacatattttccGtccaccatcctggaggtcaa	8	12	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:151397496G>A	uc001eyd.1	-	8	1426	c.1120C>T	c.(1120-1122)CGG>TGG	p.R374W	POGZ_uc001eye.1_Missense_Mutation_p.R321W|POGZ_uc010pdb.1_Missense_Mutation_p.R365W|POGZ_uc001eyf.1_Missense_Mutation_p.R321W|POGZ_uc010pdc.1_Missense_Mutation_p.R312W|POGZ_uc009wmv.1_Missense_Mutation_p.R279W|POGZ_uc010pdd.1_Intron	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	374					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CATATTTTCCGTCCACCATCC	0.408													A	151397496	G	A	151397496	3	1	152	1	0	0	0	0	1	0	0	0	12186	1144	40	1	3160	1	POGZ	1	151397496	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	870952	151397496	97853125	69	81886											
CELF3	11189	broad.mit.edu	37	chr1	151681720	151681720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtgccatctggcccccGgagcacagtgcactcgtcga	13	15	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:151681720G>A	uc001eys.1	-	4	1176	c.382C>T	c.(382-384)CGG>TGG	p.R128W	CELF3_uc010pdh.1_5'Flank|CELF3_uc001eyr.2_Missense_Mutation_p.R127W|CELF3_uc009wmy.2_Missense_Mutation_p.R128W|CELF3_uc009wmx.1_Missense_Mutation_p.R128W|CELF3_uc001eyt.2_Missense_Mutation_p.R51W|CELF3_uc010pdi.1_Missense_Mutation_p.R128W|C1orf230_uc001eyu.2_5'Flank	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN	trinucleotide repeat containing 4	128	RRM 2.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			ovary(1)|central_nervous_system(1)	2						TCTGGCCCCCGGAGCACAGTG	0.622													A	151681720	G	A	151681720	3	1	152	1	0	0	0	0	1	0	0	0	3217	1115	39	1	1051	1	CELF3	1	151681720	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	284224	151681720	97568901	70	81887											
HRNR	388697	broad.mit.edu	37	chr1	152185591	152185591	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctcttggacatattcAtagggtgaagtgctactagg	11	8	3	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:152185591A>G	uc001ezt.1	-	3	8590	c.8514T>C	c.(8512-8514)TAT>TAC	p.Y2838Y		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2838					keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGACATATTCATAGGGTGAAG	0.373													G	152185591	A	G	152185591	2	3	152	1	0	0	0	0	0	0	0	1	7359	224	8	3		3	HRNR	1	152185591	Silent	SNP	A	TCGA-CD-8536-01A-11D-2340-08	503871	152185591	97065030	71	81888											
FLG	2312	broad.mit.edu	37	chr1	152277362	152277362	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgactaccactggaccCccagtgtctactgtctctga	9	15	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:152277362C>A	uc001ezu.1	-	3	10036	c.10000G>T	c.(10000-10002)GGG>TGG	p.G3334W		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3334	Filaggrin 20.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACTGGACCCCCAGTGTCTA	0.577									Ichthyosis				A	152277362	C	A	152277362	3	1	152	1	0	0	0	0	1	0	0	0	5922	623	22	5	2189	5	FLG	1	152277362	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	91771	152277362	96973259	72	81889											
SPRR1B	6699	broad.mit.edu	37	chr1	153005023	153005023	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccagagccatgccaccccAaggtgcctgagccctgccct	9	18	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:153005023A>G	uc001fba.2	+	2	266	c.202A>G	c.(202-204)AAG>GAG	p.K68E	SPRR1B_uc009wnx.1_Intron	NM_003125	NP_003116	P22528	SPR1B_HUMAN	small proline-rich protein 1B	68	5.|6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(1)	1	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGCCACCCCAAGGTGCCTGA	0.632													G	153005023	A	G	153005023	3	3	152	1	0	0	0	0	1	0	0	0	15095	131	5	3	204	3	SPRR1B	1	153005023	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	727661	153005023	96245598	73	81890											
S100A5	6276	broad.mit.edu	37	chr1	153513914	153513914	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcatagcctccctctcaCtgccttctgcctttatttcc	5	17	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:153513914C>T	uc001fbx.2	-	2	215	c.-13G>A	c.(-15--11)CAGTG>CAATG			NM_002962	NP_002953	P33763	S10A5_HUMAN	S100 calcium binding protein A5							nucleus	calcium ion binding|copper ion binding|protein homodimerization activity|zinc ion binding				0	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCCTCTCACTGCCTTCTGC	0.527													T	153513914	C	T	153513914	1	4	152	1	0	0	0	0	0	0	0	0	13781	580	20	4		4	S100A5	1	153513914	Translation_Start_Site	SNP	C	TCGA-CD-8536-01A-11D-2340-08	508891	153513914	95736707	74	81891											
PBXIP1	57326	broad.mit.edu	37	chr1	154919254	154919254	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccctttgggctggtgcatcAggctctgaagctcttccttt	11	12	3	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:154919254A>G	uc001ffr.2	-	10	955	c.896T>C	c.(895-897)CTG>CCG	p.L299P	PBXIP1_uc001ffs.2_Missense_Mutation_p.L270P|PBXIP1_uc010pep.1_Missense_Mutation_p.L144P	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	299	Potential.				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTGGTGCATCAGGCTCTGAAG	0.562													G	154919254	A	G	154919254	3	3	152	1	0	0	0	0	1	0	0	0	11496	188	7	3	1307	3	PBXIP1	1	154919254	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	1405340	154919254	94331367	75	81892											
PKLR	5313	broad.mit.edu	37	chr1	155264041	155264041	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagacctgtgtggcacagacAacaggcttgcccgccaagtt	11	13	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:155264041A>G	uc001fkb.3	-	7	1140	c.1101T>C	c.(1099-1101)GTT>GTC	p.V367V	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Silent_p.V336V	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	367					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	TGGCACAGACAACAGGCTTGC	0.557													G	155264041	A	G	155264041	2	3	152	1	0	0	0	0	0	0	0	1	11976	117	5	3		3	PKLR	1	155264041	Silent	SNP	A	TCGA-CD-8536-01A-11D-2340-08	344787	155264041	93986580	76	81893											
RUSC1	23623	broad.mit.edu	37	chr1	155296779	155296779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccgatgggcaccggggcGtcatgggactgcagctgaag	16	11	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:155296779G>A	uc001fkj.2	+	8	2499	c.2270G>A	c.(2269-2271)CGT>CAT	p.R757H	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fki.2_5'Flank|RUSC1_uc001fkk.2_Missense_Mutation_p.R651H|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_Missense_Mutation_p.R288H|RUSC1_uc001fkl.2_Missense_Mutation_p.R347H|RUSC1_uc001fkp.2_Missense_Mutation_p.R288H|RUSC1_uc001fkq.2_Missense_Mutation_p.R182H|RUSC1_uc010pgb.1_Missense_Mutation_p.R255H|RUSC1_uc009wqp.1_Missense_Mutation_p.R282H|RUSC1_uc001fkn.2_Missense_Mutation_p.R66H|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Missense_Mutation_p.R288H|RUSC1_uc001fks.2_Missense_Mutation_p.R66H	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	757						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GCACCGGGGCGTCATGGGACT	0.632													A	155296779	G	A	155296779	3	1	152	1	0	0	0	0	1	0	0	0	13750	1145	40	1	2427	1	RUSC1	1	155296779	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	32738	155296779	93953842	77	81894											
GPATCH4	54865	broad.mit.edu	37	chr1	156565504	156565504	+	Frame_Shift_Del	DEL	T	T	-													tctgcctccttttctttttcTtttttttggggggcttgctc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:156565503_156565503CT>C	uc001fpm.3	-	7	678	c.630_630AG>G	c.(628-630)aagfs	p.K210fs	APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.3_Frame_Shift_Del_p.K205fs	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	Homo sapiens G patch domain containing 4 (GPATCH4), transcript variant 1, mRNA.	205						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTTCTTTTTCTTTTTTTTGG	0.532													-	156565504	T	-	156565504	7	5	152	1	0	1	0	1	0	0	0	0	6593	1609	56	0	502	0	GPATCH4	1	156565504	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	1268725	156565504	92685117	78	81895											
GPATCH4	54865	broad.mit.edu	37	chr1	156565595	156565595	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaaggcctgctcctgggcctCtaggcgagcaagcttggcct	14	13	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:156565595C>G	uc001fpm.2	-	8	577	c.538G>C	c.(538-540)GAG>CAG	p.E180Q	APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.2_Missense_Mutation_p.E175Q	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4 isoform 1	175	Potential.					intracellular	nucleic acid binding			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCTGGGCCTCTAGGCGAGCA	0.577													G	156565595	C	G	156565595	3	3	152	1	0	0	0	0	1	0	0	0	6593	922	32	5	593	5	GPATCH4	1	156565595	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	91	156565595	92685026	79	81896											
FCRL1	115350	broad.mit.edu	37	chr1	157773681	157773681	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcaagactttggacgcCattgtctgtgcctcgcacca	8	15	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:157773681C>A	uc001frg.2	-	3	386	c.273G>T	c.(271-273)ATG>ATT	p.M91I	FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.M91I|FCRL1_uc001fri.2_Missense_Mutation_p.M91I|FCRL1_uc001frj.2_RNA	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	91	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			skin(4)|ovary(3)	7	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTTTGGACGCCATTGTCTGTG	0.587													A	157773681	C	A	157773681	3	1	152	1	0	0	0	0	1	0	0	0	5794	594	21	5	1118	5	FCRL1	1	157773681	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1208086	157773681	91476940	80	81897											
SPTA1	6708	broad.mit.edu	37	chr1	158651408	158651408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggtcacccttctccaggGtcagctctaacagcaggtcc	9	15	4	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:158651408G>A	uc001fst.1	-	4	639	c.440C>T	c.(439-441)ACC>ATC	p.T147I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	147	Spectrin 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CTTCTCCAGGGTCAGCTCTAA	0.547													A	158651408	G	A	158651408	3	1	152	1	0	0	0	0	1	0	0	0	15115	1261	44	4	7015	4	SPTA1	1	158651408	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	877727	158651408	90599213	81	81898											
SPTA1	6708	broad.mit.edu	37	chr1	158651423	158651423	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtcagctctaacagcAggtcccacaggtggcgtagc	13	13	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:158651423A>G	uc001fst.1	-	4	624	c.425T>C	c.(424-426)CTG>CCG	p.L142P		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	142	Spectrin 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CTCTAACAGCAGGTCCCACAG	0.542													G	158651423	A	G	158651423	3	3	152	1	0	0	0	0	1	0	0	0	15115	188	7	3	7030	3	SPTA1	1	158651423	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	15	158651423	90599198	82	81899											
IGSF8	93185	broad.mit.edu	37	chr1	160063505	160063505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataagtggcacttacacagcGtctgcacatccacgtgggcc	10	13	1	0	rs146954075		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:160063505G>A	uc001fva.2	-	3	944	c.899C>T	c.(898-900)ACG>ATG	p.T300M	IGSF8_uc001fuz.2_Missense_Mutation_p.T300M|IGSF8_uc009wtf.2_Missense_Mutation_p.T300M	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	300	Extracellular (Potential).				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding				0	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTTACACAGCGTCTGCACATC	0.587													A	160063505	G	A	160063505	3	1	152	1	0	0	0	0	1	0	0	0	7604	1145	40	1	958	1	IGSF8	1	160063505	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1412082	160063505	89187116	83	81900											
NCSTN	23385	broad.mit.edu	37	chr1	160318843	160318843	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtagagaaagaggaggaccTacagtgggtattgactgatg	15	4	0	4			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:160318843T>C	uc001fvx.2	+	3	369	c.245T>C	c.(244-246)CTA>CCA	p.L82P	NCSTN_uc009wtk.1_RNA|NCSTN_uc001fvy.2_Missense_Mutation_p.L62P|NCSTN_uc010pjf.1_Missense_Mutation_p.L82P|NCSTN_uc001fvz.2_5'Flank|NCSTN_uc010pjg.1_5'Flank	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	82	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGGAGGACCTACAGTGGGTA	0.458													C	160318843	T	C	160318843	3	2	152	1	0	0	0	0	1	0	0	0	10241	1522	53	3	255	3	NCSTN	1	160318843	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	255338	160318843	88931778	84	81901											
VANGL2	57216	broad.mit.edu	37	chr1	160395046	160395046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcgttttcctcttaaaaCgccaggacttcagcctggtg	9	12	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:160395046C>T	uc001fwb.1	+	9	1743	c.1444C>T	c.(1444-1446)CGC>TGC	p.R482C	VANGL2_uc001fwc.1_Missense_Mutation_p.R482C	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	482	Cytoplasmic (Potential).				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTCTTAAAACGCCAGGACTT	0.532													T	160395046	C	T	160395046	3	4	152	1	0	0	0	0	1	0	0	0	17117	536	19	1	1470	1	VANGL2	1	160395046	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	76203	160395046	88855575	85	81902											
ARHGAP30	257106	broad.mit.edu	37	chr1	161026254	161026254	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggccttgcacagggaggagAcgcagtgaatgtcttggagg	17	7	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:161026254A>G	uc001fxl.2	-	3	615	c.269T>C	c.(268-270)GTC>GCC	p.V90A	ARHGAP30_uc001fxk.2_Missense_Mutation_p.V90A|ARHGAP30_uc001fxm.2_Intron|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_5'UTR	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	90	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CAGGGAGGAGACGCAGTGAAT	0.577													G	161026254	A	G	161026254	3	3	152	1	0	0	0	0	1	0	0	0	879	275	10	3	3076	3	ARHGAP30	1	161026254	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	631208	161026254	88224367	86	81903											
GPA33	10223	broad.mit.edu	37	chr1	167023647	167023648	+	Frame_Shift_Ins	INS	-	-	CT													gtagtcatcctcctcctcccINStctctctggaaagttctctt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:167023646_167023647C>CCT	uc001gea.1	-	6	1228_1229	c.884_885G>AGG	c.(883-885)aggfs	p.R295fs		NM_005814	NP_005805	Q99795	GPA33_HUMAN	Homo sapiens glycoprotein A33 (transmembrane) (GPA33), mRNA.	295						integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CCTCCTCCTCCCTCTCTCTGGA	0.609													CT	167023648	-	CT	167023647	7	5	152	1	0	1	1	0	0	0	0	0	6586	681	24	0	79	0	GPA33	1	167023647	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	5997393	167023647	82226974	87	81904											
DUSP27	92235	broad.mit.edu	37	chr1	167097566	167097566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaattgggccaggtccagGgactgggaagatgtggaaga	16	7	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:167097566G>A	uc001geb.1	+	5	3198	c.3198G>A	c.(3196-3198)AGG>AGA	p.R1066R		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	1066					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						CCAGGTCCAGGGACTGGGAAG	0.552													A	167097566	G	A	167097566	2	1	152	1	0	0	0	0	0	0	0	1	4824	1223	43	4		4	DUSP27	1	167097566	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	73919	167097566	82153055	88	81905											
ADCY10	55811	broad.mit.edu	37	chr1	167847701	167847701	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacactttctcagtacggccCcaatactgatacaatggtcc	6	14	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:167847701C>A	uc001ger.2	-	12	1687	c.1389G>T	c.(1387-1389)TGG>TGT	p.W463C	ADCY10_uc009wvk.2_Missense_Mutation_p.W371C|ADCY10_uc010plj.1_Missense_Mutation_p.W310C|ADCY10_uc009wvl.2_Missense_Mutation_p.W462C	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	463					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						CAGTACGGCCCCAATACTGAT	0.393													A	167847701	C	A	167847701	3	1	152	1	0	0	0	0	1	0	0	0	293	624	22	5	3531	5	ADCY10	1	167847701	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	750135	167847701	81402920	89	81906											
GPR161	23432	broad.mit.edu	37	chr1	168065809	168065809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgttgcacaaatggttcccGataataccggtccccaaagc	8	13	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:168065809G>A	uc001gfc.2	-	5	1350	c.1036C>T	c.(1036-1038)CGG>TGG	p.R346W	GPR161_uc001gfb.2_Missense_Mutation_p.R214W|GPR161_uc010pll.1_Missense_Mutation_p.R256W|GPR161_uc010plm.1_Missense_Mutation_p.R232W|GPR161_uc009wvo.2_Missense_Mutation_p.R363W|GPR161_uc001gfd.2_Missense_Mutation_p.R346W|GPR161_uc010pln.1_Missense_Mutation_p.R366W|GPR161_uc001gfe.1_Missense_Mutation_p.R346W	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161 isoform 2	346	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_hematologic(923;0.215)					AATGGTTCCCGATAATACCGG	0.527													A	168065809	G	A	168065809	3	1	152	1	0	0	0	0	1	0	0	0	6665	1057	37	1	569	1	GPR161	1	168065809	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	218108	168065809	81184812	90	81907											
MYOC	4653	broad.mit.edu	37	chr1	171621418	171621418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcagcccctcctgggtctCctggggcctggcagcctggt	14	16	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:171621418C>T	uc001ghu.2	-	1	356	c.334G>A	c.(334-336)GAG>AAG	p.E112K	MYOC_uc010pmk.1_Intron	NM_000261	NP_000252	Q99972	MYOC_HUMAN	myocilin precursor	112	Potential.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			lung(1)	1	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TCCTGGGTCTCCTGGGGCCTG	0.637													T	171621418	C	T	171621418	3	4	152	1	0	0	0	0	1	0	0	0	10086	864	30	4	1192	4	MYOC	1	171621418	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	3555609	171621418	77629203	91	81908											
ABL2	27	broad.mit.edu	37	chr1	179086567	179086567	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatgagcagtataagtgtcTccagtcatcaatctacttaa	7	9	4	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:179086567T>C	uc001gmj.3	-	8	1595	c.1308A>G	c.(1306-1308)GGA>GGG	p.G436G	ABL2_uc010pnf.1_Silent_p.G436G|ABL2_uc010png.1_Silent_p.G415G|ABL2_uc010pnh.1_Silent_p.G415G|ABL2_uc009wxe.2_Silent_p.G415G|ABL2_uc001gmg.3_Silent_p.G421G|ABL2_uc001gmi.3_Silent_p.G421G|ABL2_uc001gmh.3_Silent_p.G400G|ABL2_uc010pne.1_Silent_p.G400G|ABL2_uc009wxf.1_Silent_p.G421G|ABL2_uc001gmk.2_Silent_p.G400G	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	436	Protein kinase.|Kinase activation loop (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TATAAGTGTCTCCAGTCATCA	0.448			T	ETV6	AML								C	179086567	T	C	179086567	2	2	152	1	0	0	0	0	0	0	0	1	93	1538	54	3		3	ABL2	1	179086567	Silent	SNP	T	TCGA-CD-8536-01A-11D-2340-08	7465149	179086567	70164054	92	81909											
LAMC2	3918	broad.mit.edu	37	chr1	183205613	183205613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattggagaaaaccaagtcCctggcccagcagttgacaag	11	10	0	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:183205613C>T	uc001gqa.2	+	17	2789	c.2475C>T	c.(2473-2475)TCC>TCT	p.S825S	LAMC2_uc001gpz.3_Silent_p.S825S|LAMC2_uc010poa.1_Silent_p.S525S	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	825	Potential.|Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						AAACCAAGTCCCTGGCCCAGC	0.448													T	183205613	C	T	183205613	2	4	152	1	0	0	0	0	0	0	0	1	8615	610	22	4		4	LAMC2	1	183205613	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	4119046	183205613	66045008	93	81910											
GLT25D2	23127	broad.mit.edu	37	chr1	183909738	183909738	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcttgttgtacatgacTggcagaaactcatccactgg	11	9	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:183909738T>C	uc001gqr.2	-	11	1953	c.1581A>G	c.(1579-1581)CCA>CCG	p.P527P	GLT25D2_uc010poj.1_Silent_p.P527P|GLT25D2_uc001gqp.2_Silent_p.P135P|GLT25D2_uc001gqq.2_Silent_p.P264P|GLT25D2_uc001gqs.2_Silent_p.P407P	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	527					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						TGTACATGACTGGCAGAAACT	0.522													C	183909738	T	C	183909738	2	2	152	1	0	0	0	0	0	0	0	1	6467	1567	55	3		3	GLT25D2	1	183909738	Silent	SNP	T	TCGA-CD-8536-01A-11D-2340-08	704125	183909738	65340883	94	81911											
ASPM	259266	broad.mit.edu	37	chr1	197091176	197091176	+	Splice_Site	DEL	A	A	-													caaataggtaataaccacctAaaaaaaacccacaaaagata							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:197091175_197091175TA>T	uc001gtu.3	-	16	3999	c.3742_splice	c.e16-1	p.V1248_splice	ASPM_uc001gtv.3_Splice_Site_p.V1248_splice|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1248					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATAACCACCTAAAAAAAACC	0.303													-	197091176	A	-	197091176	8	5	152	1	0	1	0	1	0	0	1	0	1056	377	13	0		0	ASPM	1	197091176	Splice_Site	DEL	A	TCGA-CD-8536-01A-11D-2340-08	13181438	197091176	52159445	95	81912											
IPO9	55705	broad.mit.edu	37	chr1	201837923	201837923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattcctgcagggctttgtgCggtaagtggccgtgtgtgtg	17	7	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:201837923C>T	uc001gwz.2	+	16	2053	c.2003C>T	c.(2002-2004)GCG>GTG	p.A668V		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	668					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						GGGCTTTGTGCGGTAAGTGGC	0.453													T	201837923	C	T	201837923	3	4	152	1	0	0	0	0	1	0	0	0	7799	782	27	1	2065	1	IPO9	1	201837923	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	4746747	201837923	47412698	96	81913											
GPR37L1	9283	broad.mit.edu	37	chr1	202092196	202092196	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgggcaggcacagagcCgagacccaggagcagcagag	15	13	0	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:202092196C>T	uc001gxj.2	+	1	168	c.105C>T	c.(103-105)GCC>GCT	p.A35A		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1 precursor	35	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2						GGCACAGAGCCGAGACCCAGG	0.662													T	202092196	C	T	202092196	2	4	152	1	0	0	0	0	0	0	0	1	6692	639	23	1		1	GPR37L1	1	202092196	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	254273	202092196	47158425	97	81914											
PTPN7	5778	broad.mit.edu	37	chr1	202128486	202128486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggctgcccccaaagacaaGgtcaacggctgtgctctgga	12	12	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:202128486G>A	uc001gxm.1	-	2	176	c.45C>T	c.(43-45)ACC>ACT	p.T15T	PTPN7_uc001gxl.1_Silent_p.T54T|PTPN7_uc001gxn.1_Silent_p.T15T|PTPN7_uc010ppv.1_5'UTR|PTPN7_uc010ppw.1_5'UTR|PTPN7_uc010ppx.1_Silent_p.T89T|PTPN7_uc010ppy.1_RNA|PTPN7_uc001gxo.1_5'Flank	NM_002832	NP_002823	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type	15						cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			skin(1)	1						CCAAAGACAAGGTCAACGGCT	0.637													A	202128486	G	A	202128486	2	1	152	1	0	0	0	0	0	0	0	1	12793	987	35	4		4	PTPN7	1	202128486	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	36290	202128486	47122135	98	81915											
ATP2B4	493	broad.mit.edu	37	chr1	203690406	203690407	+	Frame_Shift_Ins	INS	-	-	C													attggccctggccacagagcINScccctacggaatctctgttg					rs77789819	by1000genomes	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:203690405_203690406G>GC	uc001gzw.3	+	16	3576_3577	c.2679_2680G>GC	c.(2677-2682)gagcccfs	p.E893fs	ATP2B4_uc001gzv.3_Frame_Shift_Ins_p.E893fs|ATP2B4_uc009xaq.3_Frame_Shift_Ins_p.E893fs|ATP2B4_uc001gzx.3_5'Flank|ATP2B4_uc009xar.3_5'Flank	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	893					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGGCCACAGAGCCCCCTACGGA	0.515													C	203690407	-	C	203690406	7	5	152	1	0	1	1	0	0	0	0	0	1142	739	26	0	2742	0	ATP2B4	1	203690406	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	1561920	203690406	45560215	99	81916											
ATP2B4	493	broad.mit.edu	37	chr1	203696634	203696634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactggatgagattgaccatGctgagatggagctgcgccga	15	8	0	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:203696634G>A	uc001gzw.2	+	20	4128	c.3244G>A	c.(3244-3246)GCT>ACT	p.A1082T	ATP2B4_uc001gzv.2_Missense_Mutation_p.A1082T|ATP2B4_uc009xaq.2_Missense_Mutation_p.A1082T|ATP2B4_uc001gzx.2_Missense_Mutation_p.A113T|ATP2B4_uc009xar.2_Missense_Mutation_p.A77T|ATP2B4_uc010pqj.1_5'Flank|uc010pqk.1_5'Flank|SNORA77_uc001gzy.1_5'Flank	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	1082	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GATTGACCATGCTGAGATGGA	0.567													A	203696634	G	A	203696634	3	1	152	1	0	0	0	0	1	0	0	0	1142	1319	46	2	3318	2	ATP2B4	1	203696634	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	6228	203696634	45553987	100	81917											
LRRN2	10446	broad.mit.edu	37	chr1	204587901	204587901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagggcacctcacggaccGggaggcgctggaggtccgga	19	11	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:204587901G>A	uc001hbe.1	-	3	1608	c.1220C>T	c.(1219-1221)CCG>CTG	p.P407L	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.P407L|LRRN2_uc009xbf.1_Missense_Mutation_p.P407L|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	407	Extracellular (Potential).|LRRCT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTCACGGACCGGGAGGCGCTG	0.662													A	204587901	G	A	204587901	3	1	152	1	0	0	0	0	1	0	0	0	9035	1116	39	1	925	1	LRRN2	1	204587901	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	891267	204587901	44662720	101	81918											
NUAK2	81788	broad.mit.edu	37	chr1	205273141	205273141	+	Frame_Shift_Del	DEL	G	G	-													aatgcccttcttggggagcaGgggggcagcctgccctgggc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:205273140_205273140AG>A	uc001hce.3	-	6	1452	c.1325_1325CT>T	c.(1324-1326)ctgfs	p.L442fs		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	442					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CTTGGGGAGCAGGGGGGCAGC	0.632													-	205273141	G	-	205273141	7	5	152	1	0	1	0	1	0	0	0	0	10713	991	35	0	566	0	NUAK2	1	205273141	Frame_Shift_Del	DEL	G	TCGA-CD-8536-01A-11D-2340-08	685240	205273141	43977480	102	81919											
KLHDC8A	55220	broad.mit.edu	37	chr1	205312477	205312477	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagctgattggtgcccacgcCcccaatcaccatgatccgct	8	17	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:205312477C>A	uc001hcf.1	-	2	824	c.256G>T	c.(256-258)GGC>TGC	p.G86C	KLHDC8A_uc010prg.1_Intron|KLHDC8A_uc001hcg.1_Missense_Mutation_p.G86C	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	86	Kelch 3.									ovary(1)	1	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTGCCCACGCCCCCAATCACC	0.677													A	205312477	C	A	205312477	3	1	152	1	0	0	0	0	1	0	0	0	8362	623	22	5	816	5	KLHDC8A	1	205312477	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	39336	205312477	43938144	103	81920											
CTSE	1510	broad.mit.edu	37	chr1	206328844	206328844	+	Frame_Shift_Del	DEL	C	C	-													gcaaaacgccattggggcagCccccgtggatggagaagtga							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:206328843_206328843GC>G	uc001hdu.3	+	6	1028	c.910_910GC>G	c.(910-912)gccfs	p.A304fs	CTSE_uc001hdv.3_Intron|CTSE_uc010prs.2_Intron	NM_001910	NP_001901	P14091	CATE_HUMAN	Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.	309					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CATTGGGGCAGCCCCCGTGGA	0.607													-	206328844	C	-	206328844	7	5	152	1	0	1	0	1	0	0	0	0	4033	739	26	0	937	0	CTSE	1	206328844	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	1016367	206328844	42921777	104	81921											
LAMB3	3914	broad.mit.edu	37	chr1	209811956	209811956	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgactgtagtagttgtgaGgctgcctggagtcacacttg	15	7	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:209811956G>T	uc001hhg.2	-	3	611	c.221C>A	c.(220-222)CCT>CAT	p.P74H	LAMB3_uc009xco.2_Missense_Mutation_p.P74H|LAMB3_uc001hhh.2_Missense_Mutation_p.P74H|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.P74H	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	74	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GTAGTTGTGAGGCTGCCTGGA	0.552													T	209811956	G	T	209811956	3	4	152	1	0	0	0	0	1	0	0	0	8612	1000	35	5	3377	5	LAMB3	1	209811956	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	3483112	209811956	39438665	105	81922											
KCNH1	3756	broad.mit.edu	37	chr1	210857408	210857408	+	Frame_Shift_Del	DEL	G	G	-													gtggtccgggggcaagatcaGgggggcctcattctttcgtt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:210857407_210857407AG>A	uc001hib.2	-	10	2356	c.2186_2186CT>T	c.(2185-2187)ctgfs	p.L729fs	KCNH1_uc001hic.2_Frame_Shift_Del_p.L702fs	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	729	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GGGCAAGATCAGGGGGGCCTC	0.572													-	210857408	G	-	210857408	7	5	152	1	0	1	0	1	0	0	0	0	8031	991	35	0	788	0	KCNH1	1	210857408	Frame_Shift_Del	DEL	G	TCGA-CD-8536-01A-11D-2340-08	1045452	210857408	38393213	106	81923											
CENPF	1063	broad.mit.edu	37	chr1	214813840	214813840	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acatcagaaggaaatagaaaAtatgtgtttgaagacttctc	8	5	2	4			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:214813840A>T	uc001hkm.2	+	12	2333	c.2159A>T	c.(2158-2160)AAT>ATT	p.N720I		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	720	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAATAGAAAATATGTGTTTG	0.403													T	214813840	A	T	214813840	3	4	152	1	0	0	0	0	1	0	0	0	3231	101	4	5	2201	5	CENPF	1	214813840	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	3956432	214813840	34436781	107	81924											
SPATA17	128153	broad.mit.edu	37	chr1	217804742	217804742	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggccacgttagcccggctgCaagctaggtcgtcgactgta	13	12	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:217804742C>A	uc001hlh.1	+	1	48	c.22C>A	c.(22-24)CAA>AAA	p.Q8K	GPATCH2_uc001hlf.1_5'Flank|SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.Q8K|GPATCH2_uc001hlg.3_5'Flank	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	8						cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGCCCGGCTGCAAGCTAGGTC	0.517													A	217804742	C	A	217804742	3	1	152	1	0	0	0	0	1	0	0	0	15001	711	25	5	24	5	SPATA17	1	217804742	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	2990902	217804742	31445879	108	81925											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220344405	220344405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactcagtgtcaagagaaaGtgcctcccaggaatcagtga	11	9	3	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:220344405G>A	uc010puk.1	-	24	2799	c.2635C>T	c.(2635-2637)CTT>TTT	p.L879F	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.L459F	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	879					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)		TCAAGAGAAAGTGCCTCCCAG	0.448													A	220344405	G	A	220344405	3	1	152	1	0	0	0	0	1	0	0	0	12936	1029	36	4	1594	4	RAB3GAP2	1	220344405	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2539663	220344405	28906216	109	81926											
TMEM63A	9725	broad.mit.edu	37	chr1	226037666	226037666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggcacaggatgggggctGccaaggcctggttcacagcg	17	10	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:226037666G>A	uc001hpm.1	-	21	2268	c.2018C>T	c.(2017-2019)GCA>GTA	p.A673V		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	673	Helical; (Potential).					integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					GATGGGGGCTGCCAAGGCCTG	0.617													A	226037666	G	A	226037666	3	1	152	1	0	0	0	0	1	0	0	0	16187	1319	46	2	421	2	TMEM63A	1	226037666	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	5693261	226037666	23212955	110	81927											
PARP1	142	broad.mit.edu	37	chr1	226570803	226570803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcggaggcgtggccgccaCggaggcgctggtttctgggg	22	10	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:226570803C>T	uc001hqd.3	-	8	1264	c.1093G>A	c.(1093-1095)GTG>ATG	p.V365M		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	365					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GTGGCCGCCACGGAGGCGCTG	0.512								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					T	226570803	C	T	226570803	3	4	152	1	0	0	0	0	1	0	0	0	11454	536	19	1	2015	1	PARP1	1	226570803	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	533137	226570803	22679818	111	81928											
CDC42BPA	8476	broad.mit.edu	37	chr1	227182673	227182673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatgcgctgccattctgtgCggatgaccctacagtacatc	9	12	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:227182673C>T	uc001hqr.2	-	35	5822	c.4879G>A	c.(4879-4881)GCA>ACA	p.A1627T	CDC42BPA_uc001hqq.2_Missense_Mutation_p.A926T|CDC42BPA_uc001hqs.2_Missense_Mutation_p.A1546T|CDC42BPA_uc009xes.2_Missense_Mutation_p.A1599T|CDC42BPA_uc010pvs.1_Missense_Mutation_p.A1607T|CDC42BPA_uc001hqp.2_Missense_Mutation_p.A845T	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	1640					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				CCATTCTGTGCGGATGACCCT	0.522													T	227182673	C	T	227182673	3	4	152	1	0	0	0	0	1	0	0	0	3072	768	27	1	288	1	CDC42BPA	1	227182673	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	611870	227182673	22067948	112	81929											
TRIM17	51127	broad.mit.edu	37	chr1	228596210	228596210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggggaccctgtctttccGgctcacgttgtccctgcaca	10	15	2	0	rs147756265		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:228596210G>A	uc001hsu.2	-	7	1511	c.1126C>T	c.(1126-1128)CGG>TGG	p.R376W	TRIM11_uc001hss.2_5'Flank|TRIM11_uc010pvx.1_5'Flank|TRIM11_uc001hst.1_5'Flank|TRIM17_uc001hsv.2_Missense_Mutation_p.R376W|TRIM17_uc001hsw.2_Missense_Mutation_p.R349W	NM_016102	NP_057186	Q9Y577	TRI17_HUMAN	tripartite motif-containing 17 isoform 1	376	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Prostate(94;0.0724)				CTGTCTTTCCGGCTCACGTTG	0.622													A	228596210	G	A	228596210	3	1	152	1	0	0	0	0	1	0	0	0	16490	1115	39	1	311	1	TRIM17	1	228596210	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1413537	228596210	20654411	113	81930											
C1orf198	84886	broad.mit.edu	37	chr1	230979165	230979165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctgacatcaggagatgGcagcttcccctcgagctggg	13	13	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:230979165G>A	uc001hub.2	-	3	906	c.862C>T	c.(862-864)CCA>TCA	p.P288S	C1orf198_uc009xfh.1_Missense_Mutation_p.P158S|C1orf198_uc001huc.1_Missense_Mutation_p.P71S|C1orf198_uc001hud.1_Missense_Mutation_p.P250S	NM_032800	NP_116189	Q9H425	CA198_HUMAN	hypothetical protein LOC84886 isoform 1	288											0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TCAGGAGATGGCAGCTTCCCC	0.612													A	230979165	G	A	230979165	3	1	152	1	0	0	0	0	1	0	0	0	2026	1203	42	2	129	2	C1orf198	1	230979165	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2382955	230979165	18271456	114	81931											
EXOC8	149371	broad.mit.edu	37	chr1	231473363	231473363	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctggatgcgctgccggtgCtcctggaggtcccggtcccc	15	16	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:231473363C>A	uc001huq.2	-	1	216	c.129G>T	c.(127-129)GAG>GAT	p.E43D	C1orf124_uc001hur.2_5'Flank|C1orf124_uc001hus.2_5'Flank|C1orf124_uc001hut.2_5'Flank	NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	43					exocytosis|protein transport	growth cone|nucleus	protein binding			skin(1)	1	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GCTGCCGGTGCTCCTGGAGGT	0.667													A	231473363	C	A	231473363	3	1	152	1	0	0	0	0	1	0	0	0	5311	796	28	5	2052	5	EXOC8	1	231473363	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	494198	231473363	17777258	115	81932											
HEATR1	55127	broad.mit.edu	37	chr1	236719131	236719131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgggctcggaagtccaGggcttccaggaaaaaggcgg	17	9	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:236719131G>A	uc001hyd.1	-	39	5748	c.5623C>T	c.(5623-5625)CTG>TTG	p.L1875L	HEATR1_uc009xgh.1_Silent_p.L1037L	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1875					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CGGAAGTCCAGGGCTTCCAGG	0.507													A	236719131	G	A	236719131	2	1	152	1	0	0	0	0	0	0	0	1	7027	991	35	4		4	HEATR1	1	236719131	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	5245768	236719131	12531490	116	81933											
RYR2	6262	broad.mit.edu	37	chr1	237765356	237765356	+	Frame_Shift_Del	DEL	T	T	-													tacaaaattatttcctgcggTttttgcacaagctacaagtc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:237765355_237765355GT>G	uc001hyl.1	+	34	4747	c.4627_4627GT>G	c.(4627-4629)gttfs	p.V1543fs		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1543	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTTCCTGCGGTTTTTGCACA	0.294													-	237765356	T	-	237765356	7	5	152	1	0	1	0	1	0	0	0	0	13769	1725	60	0	4766	0	RYR2	1	237765356	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	1046225	237765356	11485265	117	81934											
RYR2	6262	broad.mit.edu	37	chr1	237881792	237881792	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggatgaagtacgagatataAtccgcagcaatattcattta	8	6	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:237881792A>G	uc001hyl.1	+	73	10645	c.10525A>G	c.(10525-10527)ATC>GTC	p.I3509V	RYR2_uc010pxz.1_Missense_Mutation_p.I464V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3509					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACGAGATATAATCCGCAGCAA	0.318													G	237881792	A	G	237881792	3	3	152	1	0	0	0	0	1	0	0	0	13769	101	4	3	10815	3	RYR2	1	237881792	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	116436	237881792	11368829	118	81935											
KIF26B	55083	broad.mit.edu	37	chr1	245848881	245848881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagtcctgcgacaccgtcAtctacatcgggcccaacggc	10	16	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:245848881A>G	uc001ibf.1	+	12	3036	c.2596A>G	c.(2596-2598)ATC>GTC	p.I866V	KIF26B_uc001ibg.1_Missense_Mutation_p.I484V|KIF26B_uc001ibh.1_Missense_Mutation_p.I108V	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	866					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CGACACCGTCATCTACATCGG	0.642													G	245848881	A	G	245848881	3	3	152	1	0	0	0	0	1	0	0	0	8295	217	8	3	2642	3	KIF26B	1	245848881	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	7967089	245848881	3401740	119	81936											
KIF26B	55083	broad.mit.edu	37	chr1	245849721	245849721	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtctgctgggagcgaaGggttcccggaaactcctgtc	13	12	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:245849721G>T	uc001ibf.1	+	12	3876	c.3436G>T	c.(3436-3438)GGG>TGG	p.G1146W	KIF26B_uc001ibg.1_Missense_Mutation_p.G764W|KIF26B_uc001ibh.1_Missense_Mutation_p.G388W	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1146					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGGGAGCGAAGGGTTCCCGGA	0.592													T	245849721	G	T	245849721	3	4	152	1	0	0	0	0	1	0	0	0	8295	1000	35	5	3482	5	KIF26B	1	245849721	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	840	245849721	3400900	120	81937											
OR2M2	391194	broad.mit.edu	37	chr1	248343552	248343552	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaactacctgtctggcAgcaagtccatttctatggct	7	13	3	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:248343552A>G	uc010pzf.1	+	1	265	c.265A>G	c.(265-267)AGC>GGC	p.S89G		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	89	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTGTCTGGCAGCAAGTCCAT	0.483													G	248343552	A	G	248343552	3	3	152	1	0	0	0	0	1	0	0	0	11010	188	7	3	267	3	OR2M2	1	248343552	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	2493831	248343552	907069	121	81938											
PGBD2	267002	broad.mit.edu	37	chr1	249210872	249210872	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaggttctgaatgctaTggaggaggaagagtccaaca	14	6	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:249210872T>C	uc001ifh.2	+	3	236	c.89T>C	c.(88-90)ATG>ACG	p.M30T	PGBD2_uc001ifg.2_Intron|PGBD2_uc009xhd.2_Missense_Mutation_p.M27T	NM_170725	NP_733843	Q6P3X8	PGBD2_HUMAN	hypothetical protein LOC267002 isoform a	30										ovary(1)	1	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTGAATGCTATGGAGGAGGAA	0.483													C	249210872	T	C	249210872	3	2	152	1	0	0	0	0	1	0	0	0	11781	1464	51	3	95	3	PGBD2	1	249210872	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	867320	249210872	39749	122	81939											
ACP1	52	broad.mit.edu	37	chr2	277054	277054	+	Frame_Shift_Del	DEL	A	A	-													acttgggagctatgatccacAaaaacaacttattattgaag							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:277053_277053CA>C	uc002qwf.3	+	4	463	c.367_367CA>C	c.(367-369)caafs	p.Q123fs	ACP1_uc002qwg.3_Frame_Shift_Del_p.Q123fs|ACP1_uc002qwh.3_Non-coding_Transcript	NM_004300	NP_004291	P24666	PPAC_HUMAN	Homo sapiens acid phosphatase 1, soluble (ACP1), transcript variant 3, mRNA.	123						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		CTATGATCCACAAAAACAACT	0.303													-	277054	A	-	277054	7	5	152	1	0	1	0	1	0	0	0	0	162	130	5	0	541	0	ACP1	2	277054	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08		277054	242922319	123	81940											
MYT1L	23040	broad.mit.edu	37	chr2	1893171	1893171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagaggggtcaggatggGgcagcagctgtcccgcggcc	17	13	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:1893171G>A	uc002qxe.2	-	16	3189	c.2362C>T	c.(2362-2364)CCC>TCC	p.P788S	MYT1L_uc002qxd.2_Missense_Mutation_p.P786S|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	788					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTCAGGATGGGGCAGCAGCTG	0.617													A	1893171	G	A	1893171	3	1	152	1	0	0	0	0	1	0	0	0	10107	1232	43	4	1238	4	MYT1L	2	1893171	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1616117	1893171	241306202	124	81941											
MYT1L	23040	broad.mit.edu	37	chr2	1914026	1914026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtacctgagcacgcggtcCgaggcctggctggacttgga	17	11	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:1914026C>T	uc002qxe.2	-	13	2630	c.1803G>A	c.(1801-1803)TCG>TCA	p.S601S	MYT1L_uc002qxd.2_Silent_p.S599S|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	601					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCACGCGGTCCGAGGCCTGGC	0.632													T	1914026	C	T	1914026	2	4	152	1	0	0	0	0	0	0	0	1	10107	639	23	1		1	MYT1L	2	1914026	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	20855	1914026	241285347	125	81942											
GDF7	151449	broad.mit.edu	37	chr2	20870311	20870311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtgggtgccgagctgcGcgtgctgcgccggggatctc	20	11	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:20870311G>A	uc002rdz.1	+	2	1055	c.479G>A	c.(478-480)CGC>CAC	p.R160H		NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7 preproprotein	160					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGAGCTGCGCGTGCTGCGC	0.701													A	20870311	G	A	20870311	3	1	152	1	0	0	0	0	1	0	0	0	6318	1087	38	1	485	1	GDF7	2	20870311	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	18956285	20870311	222329062	126	81943											
DTNB	1838	broad.mit.edu	37	chr2	25754444	25754444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatttactaattgcatggCtcagcttctttgcaggagat	9	7	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:25754444C>T	uc002rgh.2	-	9	1149	c.899G>A	c.(898-900)AGC>AAC	p.S300N	DTNB_uc010yko.1_Missense_Mutation_p.S243N|DTNB_uc010ykp.1_Missense_Mutation_p.S96N|DTNB_uc002rgo.2_Missense_Mutation_p.S121N|DTNB_uc002rgi.2_Missense_Mutation_p.S300N|DTNB_uc002rgj.2_Missense_Mutation_p.S300N|DTNB_uc002rgk.2_Missense_Mutation_p.S300N|DTNB_uc002rgl.2_Missense_Mutation_p.S300N|DTNB_uc002rgq.2_Missense_Mutation_p.S300N|DTNB_uc002rgm.2_Missense_Mutation_p.S300N|DTNB_uc002rgn.2_Missense_Mutation_p.S96N|DTNB_uc002rgr.1_Missense_Mutation_p.S289N|DTNB_uc010ykq.1_Missense_Mutation_p.S153N	NM_021907	NP_068707	O60941	DTNB_HUMAN	dystrobrevin, beta isoform 1	300						cytoplasm	calcium ion binding|zinc ion binding			large_intestine(2)|ovary(2)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATTGCATGGCTCAGCTTCTT	0.398													T	25754444	C	T	25754444	3	4	152	1	0	0	0	0	1	0	0	0	4789	797	28	2	1032	2	DTNB	2	25754444	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	4884133	25754444	217444929	127	81944											
SLC5A6	8884	broad.mit.edu	37	chr2	27424577	27424577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtggtcacagtggcaaCggttagattggtgggcaggg	18	6	1	1	rs142905141		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:27424577C>T	uc002rjd.2	-	14	1892	c.1501G>A	c.(1501-1503)GTT>ATT	p.V501I	SLC5A6_uc010eyv.1_Missense_Mutation_p.V501I	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	501					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	ACAGTGGCAACGGTTAGATTG	0.542													T	27424577	C	T	27424577	3	4	152	1	0	0	0	0	1	0	0	0	14669	536	19	1	422	1	SLC5A6	2	27424577	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1670133	27424577	215774796	128	81945											
ZNF513	130557	broad.mit.edu	37	chr2	27601661	27601661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggctcgagtagtgggacaCgaaggtgcagaggcggcatg	19	7	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:27601661C>T	uc002rkk.2	-	3	672	c.472G>A	c.(472-474)GTG>ATG	p.V158M	ZNF513_uc002rkj.2_Missense_Mutation_p.V96M	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	158	C2H2-type 1.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGTGGGACACGAAGGTGCAG	0.692													T	27601661	C	T	27601661	3	4	152	1	0	0	0	0	1	0	0	0	17955	536	19	1	1161	1	ZNF513	2	27601661	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	177084	27601661	215597712	129	81946											
NRBP1	29959	broad.mit.edu	37	chr2	27664199	27664199	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgtgacctgatgccaagTgagtctctcctttccctcag	9	13	2	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:27664199T>C	uc002rko.2	+	17	2279	c.1447_splice	c.e17+2	p.N483_splice	NRBP1_uc002rkq.2_Splice_Site_p.N482_splice|NRBP1_uc002rkp.2_Splice_Site_p.N483_splice|NRBP1_uc002rkr.2_Splice_Site_p.N274_splice|KRTCAP3_uc002rks.2_5'Flank|KRTCAP3_uc010ylr.1_5'Flank|KRTCAP3_uc002rkt.2_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein						ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			ovary(2)|lung(1)	3	Acute lymphoblastic leukemia(172;0.155)					TGATGCCAAGTGAGTCTCTCC	0.488													C	27664199	T	C	27664199	5	2	152	1	0	0	0	0	0	0	1	0	10642	1710	59	3	1507	3	NRBP1	2	27664199	Splice_Site	SNP	T	TCGA-CD-8536-01A-11D-2340-08	62538	27664199	215535174	130	81947											
C2orf16	84226	broad.mit.edu	37	chr2	27804427	27804427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctcagagagaagccatcGcagttcctctgagagaagac	10	12	2	5			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:27804427G>A	uc002rkz.3	+	1	5039	c.4988G>A	c.(4987-4989)CGC>CAC	p.R1663H	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1663	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.|6.									large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					AGAAGCCATCGCAGTTCCTCT	0.572													A	27804427	G	A	27804427	3	1	152	1	0	0	0	0	1	0	0	0	2157	1087	38	1	4990	1	C2orf16	2	27804427	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	140228	27804427	215394946	131	81948											
CAPN13	92291	broad.mit.edu	37	chr2	30966439	30966439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgggtggaaatttctcccGgaaccgctggaattagagga	13	9	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:30966439G>A	uc002rnn.2	-	12	1431	c.1255C>T	c.(1255-1257)CGG>TGG	p.R419W	CAPN13_uc002rnm.2_RNA|CAPN13_uc002rno.2_5'UTR	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	calpain 13	419					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			large_intestine(1)|ovary(1)	2	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AATTTCTCCCGGAACCGCTGG	0.473													A	30966439	G	A	30966439	3	1	152	1	0	0	0	0	1	0	0	0	2626	1115	39	1	794	1	CAPN13	2	30966439	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	3162012	30966439	212232934	132	81949											
TTC7A	57217	broad.mit.edu	37	chr2	47288044	47288044	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagggcaacctggaggaGgccaagcagctgtacaagga	16	8	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:47288044G>T	uc002rvo.2	+	19	2657	c.2289G>T	c.(2287-2289)GAG>GAT	p.E763D	TTC7A_uc002rvm.2_Missense_Mutation_p.E729D|TTC7A_uc010fbb.2_Missense_Mutation_p.E787D|TTC7A_uc010fbc.2_Missense_Mutation_p.E409D|TTC7A_uc002rvp.2_Missense_Mutation_p.E644D|TTC7A_uc002rvq.2_Missense_Mutation_p.E503D|TTC7A_uc002rvr.2_Missense_Mutation_p.E212D	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	763	TPR 7.						binding			breast(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			ACCTGGAGGAGGCCAAGCAGC	0.637													T	47288044	G	T	47288044	3	4	152	1	0	0	0	0	1	0	0	0	16709	991	35	5	2363	5	TTC7A	2	47288044	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	16321605	47288044	195911329	133	81950											
NRXN1	9378	broad.mit.edu	37	chr2	50765683	50765683	+	Frame_Shift_Del	DEL	C	C	-													ccagctttattttctggcagCccccccaggtacaactcatc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:50765682_50765682GC>G	uc021vhh.1	-	8	2773	c.1852_1852GC>C	c.(1852-1854)ctgfs	p.L618fs	NRXN1_uc002rxb.4_Frame_Shift_Del_p.L290fs|NRXN1_uc021vhg.1_Frame_Shift_Del_p.L658fs|NRXN1_uc021vhi.1_Frame_Shift_Del_p.L654fs|NRXN1_uc021vhj.1_Frame_Shift_Del_p.L614fs|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	618	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTTTCTGGCAGCCCCCCCAGG	0.522													-	50765683	C	-	50765683	7	5	152	1	0	1	0	1	0	0	0	0	10665	726	26	0	2991	0	NRXN1	2	50765683	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	3477639	50765683	192433690	134	81951											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	152	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-CD-8536-01A-11D-2340-08	3401457	54167140	189032233	135	81952											
UGP2	7360	broad.mit.edu	37	chr2	64111166	64111166	+	Frame_Shift_Del	DEL	A	A	-													ttaacacggatgaagataccAaaaaaatactacagaagtac							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:64111165_64111165CA>C	uc010ypx.2	+	4	547	c.540_540CA>C	c.(538-540)accfs	p.T180fs	UGP2_uc002scl.3_Frame_Shift_Del_p.T160fs|UGP2_uc002scm.3_Frame_Shift_Del_p.T171fs	NM_001001521	NP_001001521	Q16851	UGPA_HUMAN	Homo sapiens UDP-glucose pyrophosphorylase 2 (UGP2), transcript variant 2, mRNA.	171					UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycogen biosynthetic process|phosphorylation|xenobiotic metabolic process	cytosol	UTP:glucose-1-phosphate uridylyltransferase activity|metal ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						ATGAAGATACCAAAAAAATAC	0.323													-	64111166	A	-	64111166	7	5	152	1	0	1	0	1	0	0	0	0	16940	131	5	0	532	0	UGP2	2	64111166	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	9944026	64111166	179088207	136	81953											
SLC1A4	6509	broad.mit.edu	37	chr2	65248137	65248137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaggcaacaaagaaaggcGagcaggaacttgctgaggtg	15	6	0	3	rs113579377	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:65248137G>A	uc010yqa.1	+	8	1778	c.1456G>A	c.(1456-1458)GAG>AAG	p.E486K	SLC1A4_uc010ypy.1_Missense_Mutation_p.E266K|SLC1A4_uc010ypz.1_Missense_Mutation_p.E188K|SLC1A4_uc010fcv.2_Missense_Mutation_p.R485Q|SLC1A4_uc002sdh.2_Missense_Mutation_p.E266K	NM_003038	NP_003029	P43007	SATT_HUMAN	solute carrier family 1, member 4 isoform 1	486					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(1)	1					L-Alanine(DB00160)	AAAGAAAGGCGAGCAGGAACT	0.597													A	65248137	G	A	65248137	3	1	152	1	0	0	0	0	1	0	0	0	14434	1059	37	1	1486	1	SLC1A4	2	65248137	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1136971	65248137	177951236	137	81954											
MXD1	4084	broad.mit.edu	37	chr2	70162550	70162550	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacttggacccgaatcaagtCgacacactacgttgagttta	8	11	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:70162550C>T	uc002sfy.2	+	4	531	c.271C>T	c.(271-273)CGA>TGA	p.R91*	MXD1_uc010yqp.1_Nonsense_Mutation_p.R91*|MXD1_uc010yqq.1_Nonsense_Mutation_p.R28*|MXD1_uc010yqr.1_RNA|MXD1_uc010yqs.1_Nonsense_Mutation_p.R81*	NM_002357	NP_002348	Q05195	MAD1_HUMAN	MAX dimerization protein 1	91	Helix-loop-helix motif.				cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						CGAATCAAGTCGACACACTAC	0.448													T	70162550	C	T	70162550	4	4	152	1	0	0	0	0	0	1	0	0	9999	876	31	1	285	1	MXD1	2	70162550	Nonsense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	4914413	70162550	173036823	138	81955											
NAGK	55577	broad.mit.edu	37	chr2	71297913	71297913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagaggatcaatgagatgGtgaacagggccaaacggaaa	15	5	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:71297913G>A	uc002shp.3	+	3	563	c.157G>A	c.(157-159)GTG>ATG	p.V53M	NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_Translation_Start_Site|NAGK_uc002shr.2_Missense_Mutation_p.V2M	NM_017567	NP_060037	Q9UJ70	NAGK_HUMAN	N-Acetylglucosamine kinase	53					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding				0					N-Acetyl-D-glucosamine(DB00141)	CAATGAGATGGTGAACAGGGC	0.552											OREG0014689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	71297913	G	A	71297913	3	1	152	1	0	0	0	0	1	0	0	0	10142	1261	44	4	305	4	NAGK	2	71297913	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1135363	71297913	171901460	139	81956											
FBXO41	150726	broad.mit.edu	37	chr2	73491645	73491645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccactgcctccctcggggcGggctgcagaataccaggggt	14	15	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:73491645G>A	uc002sjb.1	-	6	1750	c.1750C>T	c.(1750-1752)CGC>TGC	p.R584C		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	523	F-box.					intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						CCCTCGGGGCGGGCTGCAGAA	0.632													A	73491645	G	A	73491645	3	1	152	1	0	0	0	0	1	0	0	0	5750	1116	39	1	1092	1	FBXO41	2	73491645	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2193732	73491645	169707728	140	81957											
RTKN	6242	broad.mit.edu	37	chr2	74657143	74657143	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacagctctaaccgcagttcAaagtctggccccgcctcagc	8	16	4	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:74657143A>G	uc002sle.2	-	6	684	c.567T>C	c.(565-567)TTT>TTC	p.F189F	RTKN_uc002slc.2_Silent_p.F176F|RTKN_uc002sld.2_Silent_p.F139F	NM_001015055	NP_001015055	Q9BST9	RTKN_HUMAN	rhotekin isoform a	189					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			skin(1)	1						ACCGCAGTTCAAAGTCTGGCC	0.632													G	74657143	A	G	74657143	2	3	152	1	0	0	0	0	0	0	0	1	13722	127	5	3		3	RTKN	2	74657143	Silent	SNP	A	TCGA-CD-8536-01A-11D-2340-08	1165498	74657143	168542230	141	81958											
DQX1	165545	broad.mit.edu	37	chr2	74750531	74750531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgaccacaacctttcggGcatccatgtcctcatacaca	7	14	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:74750531G>A	uc010yrw.1	-	5	1115	c.950C>T	c.(949-951)GCC>GTC	p.A317V	DQX1_uc002smc.2_5'UTR	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	317	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						AACCTTTCGGGCATCCATGTC	0.562													A	74750531	G	A	74750531	3	1	152	1	0	0	0	0	1	0	0	0	4751	1203	42	2	1235	2	DQX1	2	74750531	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	93388	74750531	168448842	142	81959											
TCF7L1	83439	broad.mit.edu	37	chr2	85536191	85536191	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagaagccatgtgttcagtAcctgccccccgagaagccct	9	15	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:85536191A>G	uc002soy.2	+	12	1447	c.1373A>G	c.(1372-1374)TAC>TGC	p.Y458C		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	HMG-box transcription factor TCF-3	458					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|breast(1)|central_nervous_system(1)	3						TGTGTTCAGTACCTGCCCCCC	0.612													G	85536191	A	G	85536191	3	3	152	1	0	0	0	0	1	0	0	0	15694	391	14	3	1419	3	TCF7L1	2	85536191	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	10785660	85536191	157663182	143	81960											
CAPG	822	broad.mit.edu	37	chr2	85628352	85628352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagttcagtgcccgctcgGtggcacggatgttcttcttc	11	14	3	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:85628352G>A	uc002spl.1	-	5	702	c.452C>T	c.(451-453)ACC>ATC	p.T151I	CAPG_uc002spm.1_Missense_Mutation_p.T151I|CAPG_uc010ysq.1_Missense_Mutation_p.T151I|CAPG_uc010fgi.1_Missense_Mutation_p.T151I|CAPG_uc010fgj.1_Missense_Mutation_p.T45I	NM_001747	NP_001738	P40121	CAPG_HUMAN	gelsolin-like capping protein	151	Gelsolin-like 2.				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding				0						TGCCCGCTCGGTGGCACGGAT	0.582													A	85628352	G	A	85628352	3	1	152	1	0	0	0	0	1	0	0	0	2621	1261	44	4	618	4	CAPG	2	85628352	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	92161	85628352	157571021	144	81961											
POLR1A	25885	broad.mit.edu	37	chr2	86258545	86258545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacccggcgctccatggcctCgggcccctggggctcctggc	15	18	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:86258545C>T	uc002sqs.2	-	30	4865	c.4486G>A	c.(4486-4488)GAG>AAG	p.E1496K	POLR1A_uc010ytb.1_Missense_Mutation_p.E862K	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1496					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						TCCATGGCCTCGGGCCCCTGG	0.652													T	86258545	C	T	86258545	3	4	152	1	0	0	0	0	1	0	0	0	12209	893	31	1	696	1	POLR1A	2	86258545	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	630193	86258545	156940828	145	81962											
FAHD2B	151313	broad.mit.edu	37	chr2	97757268	97757268	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctttgggagtgtggggTcaaaggcattgaggttgata	16	4	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:97757268T>C	uc002sxm.2	-	2	327	c.176A>G	c.(175-177)GAC>GGC	p.D59G		NM_199336	NP_955368	Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing	59							hydrolase activity|metal ion binding				0						GAGTGTGGGGTCAAAGGCATT	0.582													C	97757268	T	C	97757268	3	2	152	1	0	0	0	0	1	0	0	0	5374	1667	58	3	796	3	FAHD2B	2	97757268	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	11498723	97757268	145442105	146	81963											
PDCL3	79031	broad.mit.edu	37	chr2	101192867	101192867	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattatgacagacctggaggAaaaccctaagaagccgattg	10	8	0	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:101192867A>G	uc002tao.2	+	6	741	c.629A>G	c.(628-630)GAA>GGA	p.E210G		NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	210					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding				0						GACCTGGAGGAAAACCCTAAG	0.493													G	101192867	A	G	101192867	3	3	152	1	0	0	0	0	1	0	0	0	11628	246	9	3	651	3	PDCL3	2	101192867	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	3435599	101192867	142006506	147	81964											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105924404	105924404	+	Frame_Shift_Del	DEL	C	C	-													gttcagtgcaaacgtggctgCccccttgatgcgggcccccg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:105924403_105924403GC>G	uc002tcq.3	-	1	440	c.356_356GC>C	c.(355-357)gcafs	p.A119fs	TGFBRAP1_uc002tcr.4_Frame_Shift_Del_p.A119fs	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	119	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						AAACGTGGCTGCCCCCTTGAT	0.557													-	105924404	C	-	105924404	7	5	152	1	0	1	0	1	0	0	0	0	15821	739	26	0	2271	0	TGFBRAP1	2	105924404	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	4731537	105924404	137274969	148	81965											
ZC3H6	376940	broad.mit.edu	37	chr2	113067707	113067707	+	Frame_Shift_Del	DEL	A	A	-													tcattttctaaagaatcaggAaaaaaacagagaatgaaagg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:113067706_113067706GA>G	uc002thq.1	+	3	975	c.581_581GA>G	c.(580-582)ggafs	p.G194fs		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA.	194							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AAAGAATCAGGAAAAAAACAG	0.358													-	113067707	A	-	113067707	7	5	152	1	0	1	0	1	0	0	0	0	17568	233	9	0	596	0	ZC3H6	2	113067707	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	7143303	113067707	130131666	149	81966											
IL1B	3553	broad.mit.edu	37	chr2	113587977	113587977	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggtgaagtcagttatatcCtggccgcctttggtccctcc	10	12	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:113587977C>A	uc002tii.1	-	7	858	c.771G>T	c.(769-771)CAG>CAT	p.Q257H	IL1B_uc002tih.1_Missense_Mutation_p.Q226H	NM_000576	NP_000567	P01584	IL1B_HUMAN	interleukin 1, beta proprotein	257					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			lung(3)|breast(1)	4					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	CAGTTATATCCTGGCCGCCTT	0.512													A	113587977	C	A	113587977	3	1	152	1	0	0	0	0	1	0	0	0	7651	680	24	5	42	5	IL1B	2	113587977	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	520270	113587977	129611396	150	81967											
SLC35F5	80255	broad.mit.edu	37	chr2	114480774	114480774	+	Splice_Site	DEL	A	A	-													gaggtaagaaagcagcccctAaaaaaaagaaaatatacatt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:114480773_114480773TA>T	uc002tku.1	-	13	1665	c.1251_splice	c.e13-1	p.W417_splice	SLC35F5_uc002tkt.3_Splice_Site|MIR4782_uc021vmz.1_5'Flank	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	417					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AAGCAGCCCCtaaaaaaaaga	0.338													-	114480774	A	-	114480774	8	5	152	1	0	1	0	1	0	0	1	0	14592	377	13	0		0	SLC35F5	2	114480774	Splice_Site	DEL	A	TCGA-CD-8536-01A-11D-2340-08	892797	114480774	128718599	151	81968											
GPR17	2840	broad.mit.edu	37	chr2	128409295	128409295	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcttcgaagggaaaaccaAcgagagctcgctgagtgcca	12	11	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:128409295A>G	uc010yzn.1	+	4	1681	c.1070A>G	c.(1069-1071)AAC>AGC	p.N357S	LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.N357S|GPR17_uc010yzo.1_Missense_Mutation_p.N329S|GPR17_uc002tpd.2_Missense_Mutation_p.N329S	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN	G protein-coupled receptor 17 isoform a	357	Cytoplasmic (Potential).					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		GGGAAAACCAACGAGAGCTCG	0.602													G	128409295	A	G	128409295	3	3	152	1	0	0	0	0	1	0	0	0	6667	43	2	3	1076	3	GPR17	2	128409295	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	13928521	128409295	114790078	152	81969											
SAP130	79595	broad.mit.edu	37	chr2	128774050	128774050	+	Frame_Shift_Del	DEL	G	G	-													gtaacctgccctggaaccttGgggggaagtgacagggtaga							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:128774049_128774049TG>T	uc010fmd.2	-	3	631	c.499_499CA>A	c.(499-501)aagfs	p.K167fs	SAP130_uc002tpp.2_Frame_Shift_Del_p.K167fs|SAP130_uc002tpq.1_Frame_Shift_Del_p.K141fs	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	167	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCTGGAACCTTGGGGGGAAGT	0.532													-	128774050	G	-	128774050	7	5	152	1	0	1	0	1	0	0	0	0	13831	1335	47	0	2825	0	SAP130	2	128774050	Frame_Shift_Del	DEL	G	TCGA-CD-8536-01A-11D-2340-08	364755	128774050	114425323	153	81970											
SAP130	79595	broad.mit.edu	37	chr2	128774078	128774078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacagggtagaaggtggaGcaggagcaatgggacggcta	19	5	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:128774078G>A	uc002tpp.2	-	4	602	c.470C>T	c.(469-471)GCT>GTT	p.A157V	SAP130_uc002tpo.2_5'Flank|SAP130_uc010fmd.2_Missense_Mutation_p.A157V|SAP130_uc002tpq.1_Missense_Mutation_p.A131V	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	157	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AGAAGGTGGAGCAGGAGCAAT	0.542													A	128774078	G	A	128774078	3	1	152	1	0	0	0	0	1	0	0	0	13831	971	34	2	2853	2	SAP130	2	128774078	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	28	128774078	114425295	154	81971											
ZEB2	9839	broad.mit.edu	37	chr2	145157561	145157561	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccataagaactttatagtcaTtgaagtctagtggttctgtt	8	6	3	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:145157561T>C	uc002tvu.2	-	8	1673	c.1193A>G	c.(1192-1194)AAT>AGT	p.N398S	ZEB2_uc002tvv.2_Missense_Mutation_p.N392S|ZEB2_uc010zbm.1_Missense_Mutation_p.N369S|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.N427S	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	398						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTTATAGTCATTGAAGTCTAG	0.418													C	145157561	T	C	145157561	3	2	152	1	0	0	0	0	1	0	0	0	17621	1493	52	3	2463	3	ZEB2	2	145157561	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	16383483	145157561	98041812	155	81972											
RIF1	55183	broad.mit.edu	37	chr2	152317719	152317719	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaggaaaagtctactgActttgtgtttatacctccag	10	7	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:152317719A>G	uc002txm.2	+	27	3273	c.3143A>G	c.(3142-3144)GAC>GGC	p.D1048G	RIF1_uc002txl.2_Missense_Mutation_p.D1048G|RIF1_uc002txn.2_Missense_Mutation_p.D1048G|RIF1_uc002txo.2_Missense_Mutation_p.D1048G|RIF1_uc002txp.2_5'Flank	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1048					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAGTCTACTGACTTTGTGTTT	0.328													G	152317719	A	G	152317719	3	3	152	1	0	0	0	0	1	0	0	0	13359	275	10	3	3245	3	RIF1	2	152317719	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	7160158	152317719	90881654	156	81973											
NEB	4703	broad.mit.edu	37	chr2	152539239	152539239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggacccaaaaggcacccaGccacaacctttcatccagct	6	16	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:152539239G>A	uc010fnx.2	-	29	3071	c.2880C>T	c.(2878-2880)GGC>GGT	p.G960G		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	960	Nebulin 23.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAGGCACCCAGCCACAACCTT	0.443													A	152539239	G	A	152539239	2	1	152	1	0	0	0	0	0	0	0	1	10302	958	34	2		2	NEB	2	152539239	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	221520	152539239	90660134	157	81974											
KCNJ3	3760	broad.mit.edu	37	chr2	155555858	155555858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccagcccaagaagcgcGccgagaccctcatgttcagc	10	16	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:155555858G>A	uc002tyv.1	+	1	766	c.571G>A	c.(571-573)GCC>ACC	p.A191T	KCNJ3_uc010zce.1_Missense_Mutation_p.A191T	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	191	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	CAAGAAGCGCGCCGAGACCCT	0.587													A	155555858	G	A	155555858	3	1	152	1	0	0	0	0	1	0	0	0	8052	1087	38	1	573	1	KCNJ3	2	155555858	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	3016619	155555858	87643515	158	81975											
UPP2	151531	broad.mit.edu	37	chr2	158971750	158971750	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatactgtatgtacaaaacCgggcctgtgctcgccatcag	10	11	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:158971750C>T	uc002tzp.2	+	3	512	c.318C>T	c.(316-318)ACC>ACT	p.T106T	UPP2_uc002tzo.2_Silent_p.T163T	NM_173355	NP_775491	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform a	106					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity				0						TGTACAAAACCGGGCCTGTGC	0.443													T	158971750	C	T	158971750	2	4	152	1	0	0	0	0	0	0	0	1	17010	639	23	1		1	UPP2	2	158971750	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	3415892	158971750	84227623	159	81976											
KCNH7	90134	broad.mit.edu	37	chr2	163361170	163361170	+	Splice_Site	DEL	A	A	-													tgatatgattaaaaggccctAaaaaaatggaaagtatttgt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:163361169_163361169TA>T	uc002uch.2	-	6	1143	c.914_splice	c.e6-1	p.G305_splice	KCNH7_uc002uci.3_Splice_Site_p.G298_splice	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	305					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TAAAAGGCCCTAAAAAAATGG	0.373													-	163361170	A	-	163361170	8	5	152	1	0	1	0	1	0	0	1	0	8037	377	13	0		0	KCNH7	2	163361170	Splice_Site	DEL	A	TCGA-CD-8536-01A-11D-2340-08	4389420	163361170	79838203	160	81977											
SCN1A	6323	broad.mit.edu	37	chr2	166894567	166894567	+	Frame_Shift_Del	DEL	C	C	-													gagggttaaatttcccagagCccccacggaattgccgatga							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:166894566_166894566GC>G	uc002udo.4	-	16	2893	c.2666_2666GC>C	c.(2665-2667)gctfs	p.A889fs	SCN1A_uc010fpk.3_Frame_Shift_Del_p.A861fs|SCN1A_uc021vsb.1_Frame_Shift_Del_p.A878fs	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	889						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.I889I(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ATTTCCCAGAGCCCCCACGGA	0.423													-	166894567	C	-	166894567	7	5	152	1	0	1	0	1	0	0	0	0	13914	739	26	0	3412	0	SCN1A	2	166894567	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	3533397	166894567	76304806	161	81978											
PHOSPHO2	493911	broad.mit.edu	37	chr2	170558162	170558162	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgttgtagtttggtcctcAggtgttgatataatttctca	9	6	3	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:170558162A>G	uc002ufg.2	+	4	1069	c.681A>G	c.(679-681)TCA>TCG	p.S227S	KLHL23_uc002ufh.1_Intron	NM_001008489	NP_001008489	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	227							metal ion binding|pyridoxal phosphatase activity			skin(1)	1						TTTGGTCCTCAGGTGTTGATA	0.279													G	170558162	A	G	170558162	2	3	152	1	0	0	0	0	0	0	0	1	11857	175	7	3		3	PHOSPHO2	2	170558162	Silent	SNP	A	TCGA-CD-8536-01A-11D-2340-08	3663595	170558162	72641211	162	81979											
HOXD10	3236	broad.mit.edu	37	chr2	176983772	176983772	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacactaagcaccaaacgcTggaattagaaaaagagttct	7	8	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:176983772T>C	uc002ukj.2	+	2	906	c.836T>C	c.(835-837)CTG>CCG	p.L279P		NM_002148	NP_002139	P28358	HXD10_HUMAN	homeobox D10	279	Homeobox.					nucleus	sequence-specific DNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CACCAAACGCTGGAATTAGAA	0.463													C	176983772	T	C	176983772	3	2	152	1	0	0	0	0	1	0	0	0	7319	1580	55	3	842	3	HOXD10	2	176983772	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	6425610	176983772	66215601	163	81980											
TTN	7273	broad.mit.edu	37	chr2	179395875	179395875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggtcacagttggtaccGgctcaccatcggtgtcacaa	11	13	3	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:179395875G>A	uc010zfg.1	-	307	97987	c.97763C>T	c.(97762-97764)CCG>CTG	p.P32588L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P26283L|TTN_uc010zfi.1_Missense_Mutation_p.P26216L|TTN_uc010zfj.1_Missense_Mutation_p.P26091L|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33515							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTGGTACCGGCTCACCATC	0.502													A	179395875	G	A	179395875	3	1	152	1	0	0	0	0	1	0	0	0	16732	1116	39	1	2532	1	TTN	2	179395875	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2412103	179395875	63803498	164	81981											
TTN	7273	broad.mit.edu	37	chr2	179578856	179578856	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaggtacaggtgtctccCgtggtaacttttatggattc	10	9	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:179578856C>T	uc010zfg.1	-	89	23021	c.22797G>A	c.(22795-22797)ACG>ACA	p.T7599T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T4260T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8526							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTGTCTCCCGTGGTAACTT	0.378													T	179578856	C	T	179578856	2	4	152	1	0	0	0	0	0	0	0	1	16732	639	23	1		1	TTN	2	179578856	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	182981	179578856	63620517	165	81982											
TTN	7273	broad.mit.edu	37	chr2	179635029	179635029	+	Frame_Shift_Del	DEL	T	T	-													aggctgtcacatcctttggcTttttaatgatcttgacagct							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:179635028_179635028CT>C	uc021vsy.1	-	35	8625	c.8400_8400AG>G	c.(8398-8400)aagfs	p.K2800fs	TTN_uc021vsz.1_Frame_Shift_Del_p.K2754fs|TTN_uc021vta.1_Frame_Shift_Del_p.K2754fs|TTN_uc021vtb.1_Frame_Shift_Del_p.K2754fs|TTN_uc002unb.2_Frame_Shift_Del_p.K2800fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2800							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCCTTTGGCTTTTTAATGA	0.398													-	179635029	T	-	179635029	7	5	152	1	0	1	0	1	0	0	0	0	16732	1609	56	0	102897	0	TTN	2	179635029	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	56173	179635029	63564344	166	81983											
CCDC141	285025	broad.mit.edu	37	chr2	179736173	179736173	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctggaactgaggcttcatgTcattccatttttgtcgtaga	9	9	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:179736173T>A	uc002unf.1	-	4	518	c.461A>T	c.(460-462)GAC>GTC	p.D154V		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	154							protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGGCTTCATGTCATTCCATTT	0.393													A	179736173	T	A	179736173	3	1	152	1	0	0	0	0	1	0	0	0	2775	1667	58	5	2206	5	CCDC141	2	179736173	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	101144	179736173	63463200	167	81984											
COL5A2	1290	broad.mit.edu	37	chr2	189904254	189904254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaggtggccagggggaccCggagggccaggtgggccagg	22	9	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:189904254C>T	uc002uqk.2	-	51	3944	c.3669G>A	c.(3667-3669)CCG>CCA	p.P1223P	COL5A2_uc010frx.2_Silent_p.P799P	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1223					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CAGGGGGACCCGGAGGGCCAG	0.493													T	189904254	C	T	189904254	2	4	152	1	0	0	0	0	0	0	0	1	3697	639	23	1		1	COL5A2	2	189904254	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	10168081	189904254	53295119	168	81985											
TMEFF2	23671	broad.mit.edu	37	chr2	192922438	192922438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcttcgtcacattctgcaCcaaactggcaaatatcacag	5	13	4	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:192922438C>T	uc002utc.2	-	5	897	c.503G>A	c.(502-504)GGT>GAT	p.G168D		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two	168	Extracellular (Potential).					extracellular region|integral to membrane				lung(2)|pancreas(1)|breast(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			ACATTCTGCACCAAACTGGCA	0.373													T	192922438	C	T	192922438	3	4	152	1	0	0	0	0	1	0	0	0	16011	507	18	4	645	4	TMEFF2	2	192922438	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	3018184	192922438	50276935	169	81986											
TMEFF2	23671	broad.mit.edu	37	chr2	193059203	193059203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagccagcaaaagccctcGcaaagtgtccagctgctgca	10	14	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:193059203G>A	uc002utc.2	-	1	442	c.48C>T	c.(46-48)TGC>TGT	p.C16C	TMEFF2_uc002utd.1_Silent_p.C16C	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two	16						extracellular region|integral to membrane				lung(2)|pancreas(1)|breast(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			AAAAGCCCTCGCAAAGTGTCC	0.592													A	193059203	G	A	193059203	2	1	152	1	0	0	0	0	0	0	0	1	16011	1079	38	1		1	TMEFF2	2	193059203	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	136765	193059203	50140170	170	81987											
ALS2CR8	79800	broad.mit.edu	37	chr2	203817394	203817394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacttgtggatgtgaataGtcctcggggtgagtaacaac	13	7	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:203817394G>A	uc002uzo.2	+	5	699	c.419G>A	c.(418-420)AGT>AAT	p.S140N	ALS2CR8_uc002uzn.2_Missense_Mutation_p.S38N|ALS2CR8_uc002uzm.2_Missense_Mutation_p.S140N|ALS2CR8_uc010zhy.1_Missense_Mutation_p.S140N|ALS2CR8_uc010zhz.1_RNA|ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Missense_Mutation_p.S64N|ALS2CR8_uc010zib.1_Missense_Mutation_p.S64N|ALS2CR8_uc010zic.1_Missense_Mutation_p.S52N|ALS2CR8_uc002uzp.2_Missense_Mutation_p.S140N	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	140										large_intestine(1)|ovary(1)	2						GATGTGAATAGTCCTCGGGGT	0.408													A	203817394	G	A	203817394	3	1	152	1	0	0	0	0	1	0	0	0	555	1029	36	4	429	4	ALS2CR8	2	203817394	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	10758191	203817394	39381979	171	81988											
INO80D	54891	broad.mit.edu	37	chr2	206882406	206882406	+	Frame_Shift_Del	DEL	T	T	-													ctctgttgcagaacttaccaTttttttggcatgttcttcac							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:206882406delT	uc002vaz.3	-	8	1945	c.1540delA	c.(1540-1542)ATGfs	p.M514fs		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	514					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						GAACTTACCATTTTTTTGGCA	0.254													-	206882406	T	-	206882406	7	5	152	1	0	1	0	1	0	0	0	0	7749	1493	52	0	1559	0	INO80D	2	206882406	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	3065012	206882406	36316967	172	81989											
ERBB4	2066	broad.mit.edu	37	chr2	212483973	212483973	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatagccacaggaatcttcaCagtttctccttcaggtaccc	6	13	4	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:212483973C>A	uc002veg.1	-	19	2328	c.2230G>T	c.(2230-2232)GTG>TTG	p.V744L	ERBB4_uc002veh.1_Missense_Mutation_p.V744L|ERBB4_uc010zji.1_Missense_Mutation_p.V734L|ERBB4_uc010zjj.1_Missense_Mutation_p.V734L|ERBB4_uc010fut.1_Missense_Mutation_p.V744L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	744	Protein kinase.|Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GGAATCTTCACAGTTTCTCCT	0.368										TSP Lung(8;0.080)			A	212483973	C	A	212483973	3	1	152	1	0	0	0	0	1	0	0	0	5209	478	17	5	1736	5	ERBB4	2	212483973	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	5601567	212483973	30715400	173	81990											
ERBB4	2066	broad.mit.edu	37	chr2	212570111	212570111	+	Frame_Shift_Del	DEL	G	G	-													tggcttcaattgcattgtaaGggtccctagaaaatcaagaa							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:212570110_212570110AG>A	uc002veg.1	-	9	1229	c.1131_1131CT>T	c.(1129-1131)cctfs	p.P377fs	ERBB4_uc002veh.1_Frame_Shift_Del_p.P377fs|ERBB4_uc010zji.1_Frame_Shift_Del_p.P377fs|ERBB4_uc010zjj.1_Frame_Shift_Del_p.P377fs|ERBB4_uc010fut.1_Frame_Shift_Del_p.P377fs	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	377					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTGCATTGTAAGGGTCCCTAG	0.323										TSP Lung(8;0.080)			-	212570111	G	-	212570111	7	5	152	1	0	1	0	1	0	0	0	0	5209	1000	35	0	2872	0	ERBB4	2	212570111	Frame_Shift_Del	DEL	G	TCGA-CD-8536-01A-11D-2340-08	86138	212570111	30629262	174	81991											
ABCA12	26154	broad.mit.edu	37	chr2	215914501	215914501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctgtcacatagttctcttCgtatatcttctgaagttgaa	7	8	4	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:215914501C>T	uc002vew.2	-	6	762	c.542G>A	c.(541-543)CGA>CAA	p.R181Q	ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	181					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAGTTCTCTTCGTATATCTTC	0.313													T	215914501	C	T	215914501	3	4	152	1	0	0	0	0	1	0	0	0	30	884	31	1	7468	1	ABCA12	2	215914501	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	3344390	215914501	27284872	175	81992											
ZNF142	7701	broad.mit.edu	37	chr2	219511046	219511046	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcggcatgtgaagtcacaCagctcacacttgtggggctt	11	11	3	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:219511046C>T	uc002vin.2	-	7	1735	c.1299G>A	c.(1297-1299)CTG>CTA	p.L433L	ZNF142_uc002vil.2_Silent_p.L394L|ZNF142_uc010fvt.2_Silent_p.L270L|ZNF142_uc002vim.2_Silent_p.L270L	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	433	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGAAGTCACACAGCTCACACT	0.502													T	219511046	C	T	219511046	2	4	152	1	0	0	0	0	0	0	0	1	17728	465	17	4		4	ZNF142	2	219511046	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	3596545	219511046	23688327	176	81993											
ZNF142	7701	broad.mit.edu	37	chr2	219513732	219513732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcttaatgaaggccttgCggtcgggtgctgcatagctg	16	8	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:219513732C>T	uc002vin.2	-	6	1335	c.899G>A	c.(898-900)CGC>CAC	p.R300H	ZNF142_uc002vil.2_Missense_Mutation_p.R261H|ZNF142_uc010fvt.2_Missense_Mutation_p.R137H|ZNF142_uc002vim.2_Missense_Mutation_p.R137H	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	300	C2H2-type 4; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAAGGCCTTGCGGTCGGGTGC	0.612											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	219513732	C	T	219513732	3	4	152	1	0	0	0	0	1	0	0	0	17728	768	27	1	4184	1	ZNF142	2	219513732	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	2686	219513732	23685641	177	81994											
CCDC108	255101	broad.mit.edu	37	chr2	219883883	219883883	+	Frame_Shift_Del	DEL	G	G	-													agccttaaaggggtgaggacGggggggatctggctcatgct							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:219883882_219883882CG>C	uc002vjl.1	-	20	3577	c.3493_3493CG>G	c.(3493-3495)gtcfs	p.V1165fs	CCDC108_uc002vjm.3_Frame_Shift_Del_p.V50fs	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1165						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGTGAGGACGGGGGGGATC	0.612													-	219883883	G	-	219883883	7	5	152	1	0	1	0	1	0	0	0	0	2743	1103	39	0	2345	0	CCDC108	2	219883883	Frame_Shift_Del	DEL	G	TCGA-CD-8536-01A-11D-2340-08	370151	219883883	23315490	178	81995											
CCDC108	255101	broad.mit.edu	37	chr2	219892687	219892687	+	Frame_Shift_Del	DEL	G	G	-													tcgaagaagaactcggtcatGggggggatataagggtactg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:219892686_219892686TG>T	uc002vjl.1	-	12	1981	c.1897_1897CA>A	c.(1897-1899)atgfs	p.M633fs	CCDC108_uc010fwa.1_Frame_Shift_Del_p.M76fs|CCDC108_uc010zkp.1_Frame_Shift_Del_p.M622fs|CCDC108_uc010zkq.1_Frame_Shift_Del_p.M568fs	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	633						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACTCGGTCATGGGGGGGATA	0.597													-	219892687	G	-	219892687	7	5	152	1	0	1	0	1	0	0	0	0	2743	1335	47	0	3973	0	CCDC108	2	219892687	Frame_Shift_Del	DEL	G	TCGA-CD-8536-01A-11D-2340-08	8804	219892687	23306686	179	81996											
SLC23A3	151295	broad.mit.edu	37	chr2	220028197	220028197	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccacaatgaagatatttcGcccagagtctatgtcagcca	8	12	2	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:220028197G>A	uc010zks.1	-	10	1465	c.1354C>T	c.(1354-1356)CGA>TGA	p.R452*	NHEJ1_uc002vjp.3_5'Flank|NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Nonsense_Mutation_p.R460*|SLC23A3_uc010fwb.2_Nonsense_Mutation_p.R335*	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN	solute carrier family 23 (nucleobase	452	Cytoplasmic (Potential).				transmembrane transport	integral to membrane	protein binding|transporter activity				0		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGATATTTCGCCCAGAGTCT	0.537													A	220028197	G	A	220028197	4	1	152	1	0	0	0	0	0	1	0	0	14464	1095	38	1	490	1	SLC23A3	2	220028197	Nonsense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	135510	220028197	23171176	180	81997											
TMEM198	130612	broad.mit.edu	37	chr2	220412244	220412244	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggttaccgctgcttcaaGgcagtgctctttctcactgg	10	13	3	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:220412244G>A	uc002vme.2	+	4	768	c.183G>A	c.(181-183)AAG>AAA	p.K61K	TMEM198_uc002vmf.2_Silent_p.K61K	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	transmembrane protein 198	61	Helical; (Potential).					integral to membrane				ovary(1)	1		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCTGCTTCAAGGCAGTGCTCT	0.607											OREG0003985	type=REGULATORY REGION|Gene=AK123175|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	220412244	G	A	220412244	2	1	152	1	0	0	0	0	0	0	0	1	16116	991	35	4		4	TMEM198	2	220412244	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	384047	220412244	22787129	181	81998											
INHA	3623	broad.mit.edu	37	chr2	220439496	220439496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcagatacatgttccggCcatcccagcatacacgcagc	7	15	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:220439496C>T	uc002vmk.1	+	2	493	c.349C>T	c.(349-351)CCA>TCA	p.P117S		NM_002191	NP_002182	P05111	INHA_HUMAN	inhibin alpha subunit precursor	117					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CATGTTCCGGCCATCCCAGCA	0.612													T	220439496	C	T	220439496	3	4	152	1	0	0	0	0	1	0	0	0	7740	739	26	2	355	2	INHA	2	220439496	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	27252	220439496	22759877	182	81999											
EIF4E2	9470	broad.mit.edu	37	chr2	233421204	233421204	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgagaaggaaaaaacGgaacgagacaagaatcagag	14	4	1	4			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:233421204G>A	uc002vta.2	+	2	177	c.99G>A	c.(97-99)ACG>ACA	p.T33T	EIF4E2_uc002vtb.1_Silent_p.T33T|EIF4E2_uc002vsz.2_Silent_p.T33T|EIF4E2_uc010zmi.1_Silent_p.T33T	NM_004846	NP_004837	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E	33					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGAAAAAACGGAACGAGACA	0.413													A	233421204	G	A	233421204	2	1	152	1	0	0	0	0	0	0	0	1	5030	1103	39	1		1	EIF4E2	2	233421204	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	12981708	233421204	9778169	183	82000											
INPP5D	3635	broad.mit.edu	37	chr2	233986852	233986852	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccatgaggttcttcaccaaGctggaccagctcatcgagtt	9	12	3	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:233986852G>T	uc010zmo.1	+	3	387	c.234G>T	c.(232-234)AAG>AAT	p.K78N	INPP5D_uc010zmp.1_Missense_Mutation_p.K78N	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	78	SH2.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCTTCACCAAGCTGGACCAGC	0.522													T	233986852	G	T	233986852	3	4	152	1	0	0	0	0	1	0	0	0	7756	962	34	5	244	5	INPP5D	2	233986852	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	565648	233986852	9212521	184	82001											
AGAP1	116987	broad.mit.edu	37	chr2	236706464	236706464	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccataggaccctgcaagtcGctacctaattctcccagcca	6	16	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:236706464G>A	uc002vvs.2	+	7	1330	c.735G>A	c.(733-735)TCG>TCA	p.S245S	AGAP1_uc002vvt.2_Silent_p.S245S	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	245	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						CCTGCAAGTCGCTACCTAATT	0.512													A	236706464	G	A	236706464	2	1	152	1	0	0	0	0	0	0	0	1	366	1074	38	1		1	AGAP1	2	236706464	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2719612	236706464	6492909	185	82002											
STK25	10494	broad.mit.edu	37	chr2	242438129	242438129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatagcggtcgatgagctccGtgaggaaggaggtcttcttg	15	7	2	2	rs75331794		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:242438129G>A	uc002wbm.2	-	7	1113	c.842C>T	c.(841-843)ACG>ATG	p.T281M	STK25_uc002wbk.2_Missense_Mutation_p.T100M|STK25_uc002wbl.2_3'UTR|STK25_uc002wbn.2_Missense_Mutation_p.T281M|STK25_uc002wbo.2_Missense_Mutation_p.T204M|STK25_uc010zos.1_Missense_Mutation_p.T187M|STK25_uc010zot.1_Missense_Mutation_p.T207M|STK25_uc002wbp.2_Missense_Mutation_p.T281M|STK25_uc010fzo.2_Missense_Mutation_p.T204M|STK25_uc010zou.1_Missense_Mutation_p.T187M|STK25_uc010zov.1_Missense_Mutation_p.T187M	NM_006374	NP_006365	O00506	STK25_HUMAN	serine/threonine kinase 25	281					response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GATGAGCTCCGTGAGGAAGGA	0.577													A	242438129	G	A	242438129	3	1	152	1	0	0	0	0	1	0	0	0	15293	1145	40	1	458	1	STK25	2	242438129	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	5731665	242438129	761244	186	82003											
LMCD1	29995	broad.mit.edu	37	chr3	8578959	8578959	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaattggccgcttgctgAtggactccaagtattccacc	10	11	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:8578959A>G	uc003bqq.2	+	3	334	c.220A>G	c.(220-222)ATG>GTG	p.M74V	LMCD1_uc011atd.1_Missense_Mutation_p.M1V|LMCD1_uc011ate.1_Intron|LMCD1_uc011atf.1_Missense_Mutation_p.M1V	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	74					positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)		CCGCTTGCTGATGGACTCCAA	0.522													G	8578959	A	G	8578959	3	3	152	1	0	0	0	0	1	0	0	0	8844	333	12	3	230	3	LMCD1	3	8578959	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08		8578959	189443471	187	82004											
MTMR14	64419	broad.mit.edu	37	chr3	9695311	9695311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctctgtgcaggttgagCgcattgagaagagatgtctg	13	8	2	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:9695311C>T	uc003brz.2	+	2	290	c.166C>T	c.(166-168)CGC>TGC	p.R56C	MTMR14_uc003bsa.2_Missense_Mutation_p.R56C|MTMR14_uc003bsb.2_Missense_Mutation_p.R56C|MTMR14_uc011ath.1_RNA|MTMR14_uc010hcl.2_Intron	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	jumpy isoform 2	56						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(99;0.227)					GCAGGTTGAGCGCATTGAGAA	0.507													T	9695311	C	T	9695311	3	4	152	1	0	0	0	0	1	0	0	0	9942	768	27	1	172	1	MTMR14	3	9695311	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1116352	9695311	188327119	188	82005											
IL17RE	132014	broad.mit.edu	37	chr3	9952628	9952628	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatggccctgacactccgCtgcccactgaagctggaagc	11	15	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:9952628C>T	uc003btu.2	+	10	999	c.882C>T	c.(880-882)CGC>CGT	p.R294R	CIDEC_uc003bto.2_Intron|IL17RE_uc011atn.1_RNA|IL17RE_uc003btw.2_Silent_p.R294R|IL17RE_uc003btx.2_Silent_p.R178R|IL17RE_uc010hcq.2_Silent_p.R294R|IL17RE_uc003bty.2_RNA	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E isoform 1	294	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane	receptor activity			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		TGACACTCCGCTGCCCACTGA	0.592													T	9952628	C	T	9952628	2	4	152	1	0	0	0	0	0	0	0	1	7643	784	28	2		2	IL17RE	3	9952628	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	257317	9952628	188069802	189	82006											
RAF1	5894	broad.mit.edu	37	chr3	12626629	12626629	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagacttacctgatctcGgttgttgatgtgagaataag	11	7	1	4			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:12626629G>A	uc003bxf.3	-	15	2075	c.1660C>T	c.(1660-1662)CGA>TGA	p.R554*	RAF1_uc011aut.1_Nonsense_Mutation_p.R339*|RAF1_uc011auu.1_Nonsense_Mutation_p.R472*	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	554	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)	ACCTGATCTCGGTTGTTGATG	0.507			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome				A	12626629	G	A	12626629	4	1	152	1	0	0	0	0	0	1	0	0	13002	1124	39	1	298	1	RAF1	3	12626629	Nonsense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2674001	12626629	185395801	190	82007											
SATB1	6304	broad.mit.edu	37	chr3	18458392	18458392	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accccacgtacacattatttAcctttggcctgggcagcaga	8	13	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:18458392A>G	uc003cbh.2	-	3	2123	c.388_splice	c.e3+1	p.G130_splice	SATB1_uc003cbi.2_Splice_Site_p.G130_splice|SATB1_uc003cbj.2_Splice_Site_p.G130_splice	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1						cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						CACATTATTTACCTTTGGCCT	0.403													G	18458392	A	G	18458392	5	3	152	1	0	0	0	0	0	0	1	0	13853	405	14	3	1937	3	SATB1	3	18458392	Splice_Site	SNP	A	TCGA-CD-8536-01A-11D-2340-08	5831763	18458392	179564038	191	82008											
KAT2B	8850	broad.mit.edu	37	chr3	20136884	20136884	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagataccaaacaagtttAtttctatctatttaaggtga	6	6	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:20136884A>G	uc003cbq.2	+	3	1006	c.560A>G	c.(559-561)TAT>TGT	p.Y187C		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	187					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AAACAAGTTTATTTCTATCTA	0.373													G	20136884	A	G	20136884	3	3	152	1	0	0	0	0	1	0	0	0	7982	449	16	3	570	3	KAT2B	3	20136884	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	1678492	20136884	177885546	192	82009											
EOMES	8320	broad.mit.edu	37	chr3	27761703	27761703	+	Frame_Shift_Del	DEL	C	C	-													tgccacaggtcacccatttgCccccctggaagcgccagtgg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:27761702_27761702GC>G	uc003cdy.3	-	1	996	c.996_996GC>C	c.(994-996)ggcfs	p.G332fs	EOMES_uc003cdx.3_Frame_Shift_Del_p.G332fs|EOMES_uc010hfn.2_Frame_Shift_Del_p.G332fs|EOMES_uc011axc.1_Frame_Shift_Del_p.G37fs	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	332					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TCACCCATTTGCCCCCCTGGA	0.577													-	27761703	C	-	27761703	7	5	152	1	0	1	0	1	0	0	0	0	5147	739	26	0	1085	0	EOMES	3	27761703	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	7624819	27761703	170260727	193	82010											
TRIM71	131405	broad.mit.edu	37	chr3	32932852	32932852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagatcctggtctcagacaCgaggaaccaccggatccagc	10	14	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:32932852C>T	uc003cff.2	+	4	2219	c.2156C>T	c.(2155-2157)ACG>ATG	p.T719M		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	719	NHL 3.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						GTCTCAGACACGAGGAACCAC	0.537													T	32932852	C	T	32932852	3	4	152	1	0	0	0	0	1	0	0	0	16541	536	19	1	2170	1	TRIM71	3	32932852	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	5171149	32932852	165089578	194	82011											
SUSD5	26032	broad.mit.edu	37	chr3	33194911	33194911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcaggagtaactaggaCgttttcatccagccctactg	9	11	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:33194911C>T	uc003cfo.1	-	5	1631	c.1213G>A	c.(1213-1215)GTC>ATC	p.V405I		NM_015551	NP_056366	O60279	SUSD5_HUMAN	sushi domain containing 5 precursor	405	Extracellular (Potential).				cell adhesion	integral to membrane	hyaluronic acid binding			ovary(1)|central_nervous_system(1)	2						GTAACTAGGACGTTTTCATCC	0.532													T	33194911	C	T	33194911	3	4	152	1	0	0	0	0	1	0	0	0	15408	536	19	1	680	1	SUSD5	3	33194911	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	262059	33194911	164827519	195	82012											
DLEC1	9940	broad.mit.edu	37	chr3	38125694	38125694	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgaccagccgctacctgCgagtcctcccgccttccacg	8	21	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:38125694C>T	uc003cho.1	+	7	1240	c.1219C>T	c.(1219-1221)CGA>TGA	p.R407*	DLEC1_uc003chp.1_Nonsense_Mutation_p.R407*|DLEC1_uc010hgv.1_Nonsense_Mutation_p.R407*|DLEC1_uc010hgw.1_Nonsense_Mutation_p.R106*|DLEC1_uc003chq.1_RNA	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	407					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCGCTACCTGCGAGTCCTCCC	0.328													T	38125694	C	T	38125694	4	4	152	1	0	0	0	0	0	1	0	0	4552	760	27	1	1245	1	DLEC1	3	38125694	Nonsense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	4930783	38125694	159896736	196	82013											
XIRP1	165904	broad.mit.edu	37	chr3	39229878	39229878	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccccttcagagtgtccagCgctcgggtctcaaacagatg	10	14	2	2	rs6790392		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:39229878C>T	uc003cjk.1	-	2	1280	c.1059G>A	c.(1057-1059)GCG>GCA	p.A353A	XIRP1_uc003cji.2_Silent_p.A353A|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	353	Xin 8.						actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GAGTGTCCAGCGCTCGGGTCT	0.577													T	39229878	C	T	39229878	2	4	152	1	0	0	0	0	0	0	0	1	17426	755	27	1		1	XIRP1	3	39229878	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1104184	39229878	158792552	197	82014											
VIPR1	7433	broad.mit.edu	37	chr3	42569498	42569498	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggaagctccactgcacGcggaactacatccacatgca	8	15	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:42569498G>A	uc003clf.2	+	6	643	c.519G>A	c.(517-519)ACG>ACA	p.T173T	VIPR1_uc011azl.1_Silent_p.T125T|VIPR1_uc011azm.1_Intron|VIPR1_uc011azn.1_Silent_p.T146T	NM_004624	NP_004615	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	173	Cytoplasmic (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TCCACTGCACGCGGAACTACA	0.592													A	42569498	G	A	42569498	2	1	152	1	0	0	0	0	0	0	0	1	17166	1074	38	1		1	VIPR1	3	42569498	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	3339620	42569498	155452932	198	82015											
NKTR	4820	broad.mit.edu	37	chr3	42659102	42659102	+	Frame_Shift_Del	DEL	A	A	-													ctcttctcagacatatgtccAaaaacatgcaaaaacttcct							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:42659101_42659101CA>C	uc003clo.3	+	2	245	c.98_98CA>C	c.(97-99)ccafs	p.P33fs	NKTR_uc003cll.1_Frame_Shift_Del_p.P33fs|NKTR_uc003clm.1_5'UTR|NKTR_uc011azp.2_5'UTR|NKTR_uc003clp.3_5'UTR|NKTR_uc003clq.1_5'Flank	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	33	PPIase cyclophilin-type.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GACATATGTCCAAAAACATGC	0.333													-	42659102	A	-	42659102	7	5	152	1	0	1	0	1	0	0	0	0	10448	117	5	0	105	0	NKTR	3	42659102	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	89604	42659102	155363328	199	82016											
NKTR	4820	broad.mit.edu	37	chr3	42660575	42660575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaggttctacgttccatcGtgtggttaaaaactttatga	8	6	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:42660575G>A	uc003clo.2	+	4	344	c.197G>A	c.(196-198)CGT>CAT	p.R66H	NKTR_uc003cll.1_Missense_Mutation_p.R66H|NKTR_uc003clm.1_Translation_Start_Site|NKTR_uc003clp.2_Translation_Start_Site|NKTR_uc011azp.1_Translation_Start_Site|NKTR_uc003clq.1_5'Flank	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	66	PPIase cyclophilin-type.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ACGTTCCATCGTGTGGTTAAA	0.338													A	42660575	G	A	42660575	3	1	152	1	0	0	0	0	1	0	0	0	10448	1145	40	1	207	1	NKTR	3	42660575	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1473	42660575	155361855	200	82017											
HHATL	57467	broad.mit.edu	37	chr3	42740617	42740617	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggaggtgaaccacatcacCcactcgaagtcagccacatc	8	14	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:42740617C>A	uc003clw.2	-	5	342	c.195G>T	c.(193-195)TGG>TGT	p.W65C	HHATL_uc003clx.2_Missense_Mutation_p.W65C	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	65	Helical; (Potential).				negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.215)		ACCACATCACCCACTCGAAGT	0.597													A	42740617	C	A	42740617	3	1	152	1	0	0	0	0	1	0	0	0	7090	624	22	5	1355	5	HHATL	3	42740617	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	80042	42740617	155281813	201	82018											
KIF15	56992	broad.mit.edu	37	chr3	44841893	44841893	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaactggcggagcttgctTcaggacagacaccaccagaa	10	12	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:44841893T>C	uc003cnx.3	+	11	1335	c.1186T>C	c.(1186-1188)TCA>CCA	p.S396P	KIF15_uc010hiq.2_Missense_Mutation_p.S299P|KIF15_uc003cny.1_Missense_Mutation_p.S31P	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	396	Potential.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GGAGCTTGCTTCAGGACAGAC	0.468													C	44841893	T	C	44841893	3	2	152	1	0	0	0	0	1	0	0	0	8277	1783	62	3	1228	3	KIF15	3	44841893	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	2101276	44841893	153180537	202	82019											
CDCP1	64866	broad.mit.edu	37	chr3	45127479	45127480	+	Frame_Shift_Ins	INS	-	-	T													ctttcgccctttctgaaactINStttttggctgcctcggcatc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:45127478_45127479C>CT	uc003com.3	-	8	2297_2298	c.2162_2163G>AG	c.(2161-2163)aagfs	p.K721fs		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	721						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CTTTCTGAAACTTTTTTGGCTG	0.47													T	45127480	-	T	45127479	7	5	152	1	0	1	1	0	0	0	0	0	3093	1609	56	0	352	0	CDCP1	3	45127479	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	285586	45127479	152894951	203	82020											
CDCP1	64866	broad.mit.edu	37	chr3	45134843	45134843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagctgggggcaaaggtgCgaagggtcaccgagatgttc	18	7	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:45134843C>T	uc003com.2	-	6	1688	c.1553G>A	c.(1552-1554)CGC>CAC	p.R518H		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	518	CUB.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GGCAAAGGTGCGAAGGGTCAC	0.567													T	45134843	C	T	45134843	3	4	152	1	0	0	0	0	1	0	0	0	3093	768	27	1	973	1	CDCP1	3	45134843	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	7364	45134843	152887587	204	82021											
LTF	4057	broad.mit.edu	37	chr3	46496879	46496879	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggcgacacaggttggggaActgtcctttatctgcaccgg	13	11	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:46496879A>T	uc003cpq.2	-	5	591	c.553T>A	c.(553-555)TTC>ATC	p.F185I	LTF_uc003fzr.2_Missense_Mutation_p.F141I|LTF_uc010hjh.2_Missense_Mutation_p.F185I|LTF_uc003cpr.2_Missense_Mutation_p.F172I	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	185	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			central_nervous_system(2)|ovary(1)|lung(1)	4				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AGGTTGGGGAACTGTCCTTTA	0.552													T	46496879	A	T	46496879	3	4	152	1	0	0	0	0	1	0	0	0	9079	43	2	5	1631	5	LTF	3	46496879	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	1362036	46496879	151525551	205	82022											
IP6K2	51447	broad.mit.edu	37	chr3	48730461	48730461	+	Frame_Shift_Del	DEL	T	T	-													tctgtttctaagacatgatgTtttttgtttgttgtccacct							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:48730460_48730460GT>G	uc003cuq.3	-	2	816	c.355_355AC>C	c.(355-357)catfs	p.H119fs	IP6K2_uc003cup.3_Frame_Shift_Del_p.H119fs	NM_016291	NP_057375	Q9UHH9	IP6K2_HUMAN	Homo sapiens inositol hexakisphosphate kinase 2 (IP6K2), transcript variant 1, mRNA.	119					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	p.H119H(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						AAGACATGATGTTTTTTGTTT	0.433													-	48730461	T	-	48730461	7	5	152	1	0	1	0	1	0	0	0	0	7789	1722	60	0	942	0	IP6K2	3	48730461	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	2233582	48730461	149291969	206	82023											
KLHDC8B	200942	broad.mit.edu	37	chr3	49212180	49212180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caattccattgacagggggcCgccagggcaagctcccggtg	14	13	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:49212180C>T	uc003cwh.2	+	4	732	c.547C>T	c.(547-549)CGC>TGC	p.R183C	KLHDC8B_uc003cwi.1_Missense_Mutation_p.R56C	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	183	Kelch 5.					cytoplasm					0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GACAGGGGGCCGCCAGGGCAA	0.622													T	49212180	C	T	49212180	3	4	152	1	0	0	0	0	1	0	0	0	8363	652	23	1	557	1	KLHDC8B	3	49212180	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	481719	49212180	148810250	207	82024											
GNAT1	2779	broad.mit.edu	37	chr3	50231006	50231006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacgatgcccaaggagatgtCggacatcatccagcggctgt	12	12	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:50231006C>T	uc003cym.2	+	4	475	c.359C>T	c.(358-360)TCG>TTG	p.S120L	GNAT1_uc003cyl.2_Missense_Mutation_p.S120L	NM_144499	NP_653082	P11488	GNAT1_HUMAN	rod-type transducin alpha subunit	120					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AAGGAGATGTCGGACATCATC	0.617													T	50231006	C	T	50231006	3	4	152	1	0	0	0	0	1	0	0	0	6511	893	31	1	373	1	GNAT1	3	50231006	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1018826	50231006	147791424	208	82025											
HYAL1	3373	broad.mit.edu	37	chr3	50339849	50339849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcctgccatccaggccCgtgcagctccctggaactgg	14	15	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:50339849C>T	uc003czp.2	-	2	671	c.539G>A	c.(538-540)CGG>CAG	p.R180Q	HYAL3_uc003czd.1_5'Flank|HYAL3_uc003cze.1_5'Flank|HYAL3_uc003czf.1_5'Flank|HYAL3_uc003czg.1_5'Flank|NAT6_uc003czk.3_5'Flank|NAT6_uc003czl.1_5'Flank|HYAL1_uc003czm.2_5'UTR|HYAL1_uc003czo.2_Intron|HYAL1_uc003czq.2_Missense_Mutation_p.R180Q|HYAL1_uc003czr.2_Missense_Mutation_p.R180Q|HYAL1_uc003czn.2_Intron|HYAL1_uc003czs.2_Missense_Mutation_p.R180Q|HYAL1_uc003czt.2_Missense_Mutation_p.R180Q	NM_033159	NP_149349	Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1 isoform 1	180						extracellular space|lysosome	hyalurononglucosaminidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	CATCCAGGCCCGTGCAGCTCC	0.642													T	50339849	C	T	50339849	3	4	152	1	0	0	0	0	1	0	0	0	7463	652	23	1	780	1	HYAL1	3	50339849	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	108843	50339849	147682581	209	82026											
HEMK1	51409	broad.mit.edu	37	chr3	50609606	50609606	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcagcctaaggatggtGcccccagtgtttattcctcg	12	12	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:50609606G>A	uc003dau.2	+	4	677	c.381G>A	c.(379-381)GTG>GTA	p.V127V	C3orf18_uc003dat.2_5'Flank|HEMK1_uc003dav.2_Silent_p.V127V|HEMK1_uc003daw.2_Silent_p.V127V	NM_016173	NP_057257	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	127					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		TAAGGATGGTGCCCCCAGTGT	0.597											OREG0015589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	50609606	G	A	50609606	2	1	152	1	0	0	0	0	0	0	0	1	7051	1306	46	2		2	HEMK1	3	50609606	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	269757	50609606	147412824	210	82027											
VPRBP	9730	broad.mit.edu	37	chr3	51457448	51457448	+	Frame_Shift_Del	DEL	T	T	-													ggaagatgtctgtccagctgTttttttatggctgggctttg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:51457447_51457447GT>G	uc003dbe.2	-	13	3003	c.2818_2818AC>C	c.(2818-2820)cagfs	p.Q940fs	VPRBP_uc021wys.1_Frame_Shift_Del_p.Q939fs|VPRBP_uc003dbf.1_Frame_Shift_Del_p.Q269fs	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	993					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CTGTCCAGCTGTTTTTTTATG	0.502													-	51457448	T	-	51457448	7	5	152	1	0	1	0	1	0	0	0	0	17182	1722	60	0	1591	0	VPRBP	3	51457448	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	847842	51457448	146564982	211	82028											
PARP3	10039	broad.mit.edu	37	chr3	51979583	51979583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagacggtggaggaggtgCcacaccccctggaccgagac	15	12	0	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:51979583C>T	uc003dby.2	+	7	1305	c.934C>T	c.(934-936)CCA>TCA	p.P312S	PARP3_uc003dbz.2_Missense_Mutation_p.P319S	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	312					DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGAGGAGGTGCCACACCCCCT	0.627													T	51979583	C	T	51979583	3	4	152	1	0	0	0	0	1	0	0	0	11462	739	26	2	981	2	PARP3	3	51979583	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	522135	51979583	146042847	212	82029											
BAP1	8314	broad.mit.edu	37	chr3	52441201	52441201	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcctaccatggtcaatgGggtagaccttcagcccatcc	11	13	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:52441201G>T	uc003ddx.2	-	7	684	c.569C>A	c.(568-570)CCC>CAC	p.P190H	BAP1_uc010hmh.2_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	190					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		ATGGTCAATGGGGTAGACCTT	0.587			N|Mis|F|S|O		uveal melanoma|breast|NSCLC								T	52441201	G	T	52441201	3	4	152	1	0	0	0	0	1	0	0	0	1311	1232	43	5	1664	5	BAP1	3	52441201	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	461618	52441201	145581229	213	82030											
BAP1	8314	broad.mit.edu	37	chr3	52441246	52441246	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaagagccggcctgtgataGgcacatagctgacaaagtgg	13	9	0	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:52441246G>T	uc003ddx.2	-	7	639	c.524C>A	c.(523-525)CCT>CAT	p.P175H	BAP1_uc010hmh.2_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	175					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GCCTGTGATAGGCACATAGCT	0.587			N|Mis|F|S|O		uveal melanoma|breast|NSCLC								T	52441246	G	T	52441246	3	4	152	1	0	0	0	0	1	0	0	0	1311	1000	35	5	1709	5	BAP1	3	52441246	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	45	52441246	145581184	214	82031											
PBRM1	55193	broad.mit.edu	37	chr3	52651438	52651438	+	Frame_Shift_Del	DEL	T	T	-													tataataatcaggatagtccTttttggatggtttaaccata							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:52651437_52651437CT>C	uc003des.2	-	13	1671	c.1659_1659AG>G	c.(1657-1659)aagfs	p.K553fs	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Del_p.K553fs|PBRM1_uc003der.2_Frame_Shift_Del_p.K521fs|PBRM1_uc003det.2_Frame_Shift_Del_p.K568fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.K568fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Del_p.K553fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.K553fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.K553fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.K553fs|PBRM1_uc003dfb.1_Frame_Shift_Del_p.K466fs|PBRM1_uc003dfc.3_5'Flank	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	553	Bromo 4.			K -> R (in Ref. 1; AAG34760).	chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.K553*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CAGGATAGTCCTTTTTGGATG	0.378			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								-	52651438	T	-	52651438	7	5	152	1	0	1	0	1	0	0	0	0	11491	1609	56	0	3310	0	PBRM1	3	52651438	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	210192	52651438	145370992	215	82032											
PBRM1	55193	broad.mit.edu	37	chr3	52682389	52682390	+	Frame_Shift_Del	DEL	AA	AA	-													ttgagagccaggctcattatAagttttggcattttttgcga							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:52682388_52682389TAA>T	uc003des.2	-	6	796_797	c.784_785TTA>A	c.(784-786)tatfs	p.Y262fs	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Del_p.Y262fs|PBRM1_uc003der.2_Frame_Shift_Del_p.Y262fs|PBRM1_uc003det.2_Frame_Shift_Del_p.Y262fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.Y262fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Del_p.Y262fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.Y262fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.Y262fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.Y262fs|PBRM1_uc003dfb.1_Frame_Shift_Del_p.Y160fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	262	Bromo 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGGCTCATTATAAGTTTTGGCA	0.322			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								-	52682390	AA	-	52682389	7	5	152	1	0	1	0	1	0	0	0	0	11491	362	13	0	4212	0	PBRM1	3	52682389	Frame_Shift_Del	DEL	AA	TCGA-CD-8536-01A-11D-2340-08	30951	52682389	145340041	216	82033											
CACNA1D	776	broad.mit.edu	37	chr3	53769406	53769406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttttccctgcaggatccGcgtaggctgccacaagctca	11	14	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:53769406G>A	uc003dgv.3	+	20	2790	c.2627G>A	c.(2626-2628)CGC>CAC	p.R876H	CACNA1D_uc003dgu.3_Missense_Mutation_p.R896H|CACNA1D_uc003dgy.3_Missense_Mutation_p.R876H|CACNA1D_uc003dgw.3_Missense_Mutation_p.R543H|CACNA1D_uc003dgx.1_Missense_Mutation_p.R24H	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	876	Cytoplasmic (Potential).|III.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGCAGGATCCGCGTAGGCTGC	0.587													A	53769406	G	A	53769406	3	1	152	1	0	0	0	0	1	0	0	0	2541	1087	38	1	2877	1	CACNA1D	3	53769406	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1087017	53769406	144253024	217	82034											
FLNB	2317	broad.mit.edu	37	chr3	58083690	58083690	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caataagcccacctactttgAcatctatacggcaggtaacg	7	12	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:58083690A>G	uc003djj.2	+	7	1298	c.1133A>G	c.(1132-1134)GAC>GGC	p.D378G	FLNB_uc010hne.2_Missense_Mutation_p.D378G|FLNB_uc003djk.2_Missense_Mutation_p.D378G|FLNB_uc010hnf.2_Missense_Mutation_p.D378G|FLNB_uc003djl.2_Missense_Mutation_p.D209G|FLNB_uc003djm.2_Missense_Mutation_p.D209G	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	378	Filamin 2.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACCTACTTTGACATCTATACG	0.517													G	58083690	A	G	58083690	3	3	152	1	0	0	0	0	1	0	0	0	5934	275	10	3	1159	3	FLNB	3	58083690	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	4314284	58083690	139938740	218	82035											
ROBO2	6092	broad.mit.edu	37	chr3	77657038	77657039	+	Frame_Shift_Ins	INS	-	-	C													ggccaatgtccctctacctcINScccccccagtccagcccctt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:77657037_77657038T>TC	uc011bgk.2	+	21	3880_3881	c.3237_3238T>TC	c.(3235-3240)cctcccfs	p.P1079fs	ROBO2_uc021xat.1_Frame_Shift_Ins_p.P1091fs|ROBO2_uc003dpy.4_Frame_Shift_Ins_p.P1075fs|ROBO2_uc003dpz.3_Frame_Shift_Ins_p.P1079fs|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Frame_Shift_Ins_p.P202fs	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1075					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.V1079fs*22(2)|p.V1095fs*22(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCCTCTACCTCCCCCCCCAGT	0.431													C	77657039	-	C	77657038	7	5	152	1	0	1	1	0	0	0	0	0	13514	855	30	0	3310	0	ROBO2	3	77657038	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	19573348	77657038	120365392	219	82036											
CEP97	79598	broad.mit.edu	37	chr3	101477150	101477150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagccaccaagcttcaggCctgttggcggggattttatg	13	10	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:101477150C>T	uc003dvk.1	+	9	1727	c.1700C>T	c.(1699-1701)GCC>GTC	p.A567V	CEP97_uc010hpm.1_Missense_Mutation_p.A533V|CEP97_uc011bhf.1_Missense_Mutation_p.A508V|CEP97_uc003dvl.1_Missense_Mutation_p.A263V|CEP97_uc003dvm.1_Missense_Mutation_p.A405V	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	567	IQ.|CEP110 binding.					centrosome|nucleus	protein binding			ovary(2)	2						AAGCTTCAGGCCTGTTGGCGG	0.463													T	101477150	C	T	101477150	3	4	152	1	0	0	0	0	1	0	0	0	3263	739	26	2	1734	2	CEP97	3	101477150	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	23820112	101477150	96545280	220	82037											
C3orf17	25871	broad.mit.edu	37	chr3	112724792	112724792	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctttgaagttttgatacctGagccacgaagaaggtggttg	13	6	0	4			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:112724792G>A	uc003dzr.2	-	9	1356	c.1295C>T	c.(1294-1296)TCA>TTA	p.S432L	GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_Missense_Mutation_p.S57L|C3orf17_uc011bhz.1_Missense_Mutation_p.S57L|C3orf17_uc010hqh.2_Missense_Mutation_p.S57L|C3orf17_uc003dzt.2_Missense_Mutation_p.S335L|C3orf17_uc003dzs.2_Missense_Mutation_p.S296L|C3orf17_uc010hqg.2_Missense_Mutation_p.S257L|C3orf17_uc011bia.1_Missense_Mutation_p.S229L|C3orf17_uc003dzu.2_Missense_Mutation_p.S361L|C3orf17_uc011bib.1_Missense_Mutation_p.S321L|C3orf17_uc011bic.1_Missense_Mutation_p.S265L|C3orf17_uc011bid.1_RNA	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	hypothetical protein LOC25871	432						integral to membrane					0						TTTGATACCTGAGCCACGAAG	0.388													A	112724792	G	A	112724792	3	1	152	1	0	0	0	0	1	0	0	0	2210	1294	45	4	412	4	C3orf17	3	112724792	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	11247642	112724792	85297638	221	82038											
BOC	91653	broad.mit.edu	37	chr3	112991288	112991288	+	Frame_Shift_Del	DEL	C	C	-													gaggctgcccgcatcatctaCcccccagaggcccaaaccat							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:112991287_112991287AC>A	uc003dzx.3	+	6	1319	c.698_698AC>A	c.(697-699)tacfs	p.Y233fs	BOC_uc003dzy.3_Frame_Shift_Del_p.Y233fs|BOC_uc003dzz.3_Frame_Shift_Del_p.Y233fs|BOC_uc003eab.3_5'UTR	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	233					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CGCATCATCTACCCCCCAGAG	0.627													-	112991288	C	-	112991288	7	5	152	1	0	1	0	1	0	0	0	0	1481	518	18	0	717	0	BOC	3	112991288	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	266496	112991288	85031142	222	82039											
ZBTB20	26137	broad.mit.edu	37	chr3	114070565	114070565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgccggctgccagcacGcagcggtgtgcgcgcagcat	17	14	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:114070565G>A	uc003ebi.2	-	4	540	c.360C>T	c.(358-360)TGC>TGT	p.C120C	ZBTB20_uc003ebj.2_Silent_p.C47C|ZBTB20_uc010hqp.2_Silent_p.C47C|ZBTB20_uc003ebk.2_Silent_p.C47C|ZBTB20_uc003ebl.2_Silent_p.C47C|ZBTB20_uc003ebm.2_Silent_p.C47C|ZBTB20_uc003ebn.2_Silent_p.C47C|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	120	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTGCCAGCACGCAGCGGTGTG	0.622													A	114070565	G	A	114070565	2	1	152	1	0	0	0	0	0	0	0	1	17526	1079	38	1		1	ZBTB20	3	114070565	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1079277	114070565	83951865	223	82040											
KTELC1	56983	broad.mit.edu	37	chr3	119211200	119211200	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagaacctcttgagtgAatactctaaattcctgtctt	8	9	3	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:119211200A>T	uc003ecm.2	+	11	1178	c.1094A>T	c.(1093-1095)GAA>GTA	p.E365V	KTELC1_uc011bja.1_Missense_Mutation_p.E206V	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor	365						endoplasmic reticulum lumen	UDP-glucosyltransferase activity				0				GBM - Glioblastoma multiforme(114;0.233)		CTCTTGAGTGAATACTCTAAA	0.358													T	119211200	A	T	119211200	3	4	152	1	0	0	0	0	1	0	0	0	8583	246	9	5	1136	5	KTELC1	3	119211200	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	5140635	119211200	78811230	224	82041											
FBXO40	51725	broad.mit.edu	37	chr3	121340550	121340550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggtgtgccccgccagcGtggtctgctgctccatggag	15	13	1	0	rs148128733	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:121340550G>A	uc003eeg.2	+	3	484	c.274G>A	c.(274-276)GTG>ATG	p.V92M		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	92	TRAF-type.				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)		CCCCGCCAGCGTGGTCTGCTG	0.567													A	121340550	G	A	121340550	3	1	152	1	0	0	0	0	1	0	0	0	5749	1145	40	1	280	1	FBXO40	3	121340550	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2129350	121340550	76681880	225	82042											
DIRC2	84925	broad.mit.edu	37	chr3	122591444	122591444	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctcacattttatcatacaGgtaagaaatttgatttttta	4	5	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:122591444G>T	uc003efw.3	+	8	1460	c.1321G>T	c.(1321-1323)GAG>TAG	p.E441*	DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Nonsense_Mutation_p.E279*	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	441					transport	integral to membrane					0				GBM - Glioblastoma multiforme(114;0.0614)		TTATCATACAGGTAAGAAATT	0.308													T	122591444	G	T	122591444	4	4	152	1	0	0	0	0	0	1	0	0	4534	1014	35	5	1351	5	DIRC2	3	122591444	Nonsense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1250894	122591444	75430986	226	82043											
ADCY5	111	broad.mit.edu	37	chr3	123005567	123005567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaccggtgctgtccatgcGgctggccacgttcacggtat	12	13	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:123005567G>A	uc003egh.1	-	20	3622	c.3622C>T	c.(3622-3624)CGC>TGC	p.R1208C	ADCY5_uc003egg.1_Missense_Mutation_p.R866C	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	1208	Cytoplasmic (Potential).|Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		CTGTCCATGCGGCTGGCCACG	0.647											OREG0004289|OREG0015741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|Gene=ADCY5|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	A	123005567	G	A	123005567	3	1	152	1	0	0	0	0	1	0	0	0	297	1116	39	1	171	1	ADCY5	3	123005567	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	414123	123005567	75016863	227	82044											
KALRN	8997	broad.mit.edu	37	chr3	124196165	124196165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcttatcctggagcatgCgggcaccttctttgatgtaa	10	11	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:124196165C>T	uc003ehg.2	+	27	4296	c.4169C>T	c.(4168-4170)GCG>GTG	p.A1390V	KALRN_uc010hrv.1_Missense_Mutation_p.A1381V|KALRN_uc003ehf.1_Missense_Mutation_p.A1390V|KALRN_uc011bjy.1_Missense_Mutation_p.A1381V|KALRN_uc003ehh.1_Missense_Mutation_p.A736V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1390	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						CTGGAGCATGCGGGCACCTTC	0.403													T	124196165	C	T	124196165	3	4	152	1	0	0	0	0	1	0	0	0	7975	768	27	1	4275	1	KALRN	3	124196165	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1190598	124196165	73826265	228	82045											
KALRN	8997	broad.mit.edu	37	chr3	124416461	124416461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttccagcagcccctaaccGccccattgcccaggagagaa	9	16	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:124416461G>A	uc003ehg.2	+	55	7848	c.7721G>A	c.(7720-7722)CGC>CAC	p.R2574H	KALRN_uc003ehk.2_Missense_Mutation_p.R877H	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2573	Fibronectin type-III.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GCCCCTAACCGCCCCATTGCC	0.517													A	124416461	G	A	124416461	3	1	152	1	0	0	0	0	1	0	0	0	7975	1087	38	1	8095	1	KALRN	3	124416461	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	220296	124416461	73605969	229	82046											
SLC12A8	84561	broad.mit.edu	37	chr3	124909345	124909345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgggtcttccaccagggCtggggctgggccagggcatc	17	12	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:124909345C>T	uc003ehv.3	-	3	183	c.72G>A	c.(70-72)CAG>CAA	p.Q24Q	SLC12A8_uc003ehw.3_Silent_p.Q53Q|SLC12A8_uc010hrz.1_5'UTR	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	24					potassium ion transport	integral to membrane	symporter activity				0						TCCACCAGGGCTGGGGCTGGG	0.582													T	124909345	C	T	124909345	2	4	152	1	0	0	0	0	0	0	0	1	14389	796	28	2		2	SLC12A8	3	124909345	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	492884	124909345	73113085	230	82047											
PLXND1	23129	broad.mit.edu	37	chr3	129293232	129293232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggctgcagaggcccccGcaggcggcagccatcactcc	13	17	1	1	rs141047735		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:129293232G>A	uc003emx.2	-	12	2732	c.2632C>T	c.(2632-2634)CGG>TGG	p.R878W		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	878	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						AGAGGCCCCCGCAGGCGGCAG	0.687													A	129293232	G	A	129293232	3	1	152	1	0	0	0	0	1	0	0	0	12127	1086	38	1	3245	1	PLXND1	3	129293232	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	4383887	129293232	68729198	231	82048											
TOPBP1	11073	broad.mit.edu	37	chr3	133329880	133329880	+	Frame_Shift_Del	DEL	T	T	-													agattcttgtctttgctggaTtttttttctccatctcattg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:133329879_133329879AT>A	uc003eps.3	-	24	4274	c.4142_4142AT>T	c.(4141-4143)atcfs	p.I1381fs		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	1381					DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TCTTTGCTGGATTTTTTTTCT	0.343								Other conserved DNA damage response genes					-	133329880	T	-	133329880	7	5	152	1	0	1	0	1	0	0	0	0	16366	1493	52	0	443	0	TOPBP1	3	133329880	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	4036648	133329880	64692550	232	82049											
AMOTL2	51421	broad.mit.edu	37	chr3	134080596	134080596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcctcgatggcgccgcGcagcagtgccatctctcgct	12	16	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:134080596G>A	uc003eqf.2	-	6	1624	c.1507C>T	c.(1507-1509)CGC>TGC	p.R503C	AMOTL2_uc003eqg.1_Missense_Mutation_p.R445C|AMOTL2_uc003eqh.1_Missense_Mutation_p.R445C|AMOTL2_uc003eqe.1_Missense_Mutation_p.R70C	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	445	Potential.									large_intestine(1)	1						ATGGCGCCGCGCAGCAGTGCC	0.647													A	134080596	G	A	134080596	3	1	152	1	0	0	0	0	1	0	0	0	584	1087	38	1	1029	1	AMOTL2	3	134080596	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	750716	134080596	63941834	233	82050											
STAG1	10274	broad.mit.edu	37	chr3	136342004	136342004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atactggaggccggccaggaCgacccctttttctttttcct	9	13	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:136342004C>T	uc003era.1	-	3	408	c.116G>A	c.(115-117)CGT>CAT	p.R39H	STAG1_uc003erb.1_Missense_Mutation_p.R39H|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003ere.2_Missense_Mutation_p.R39H	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	39					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						CCGGCCAGGACGACCCCTTTT	0.403													T	136342004	C	T	136342004	3	4	152	1	0	0	0	0	1	0	0	0	15241	536	19	1	3788	1	STAG1	3	136342004	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	2261408	136342004	61680426	234	82051											
DZIP1L	199221	broad.mit.edu	37	chr3	137822444	137822444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccagctcctgctgaccacGctgctgctggcccaggctgg	12	17	0	1	rs145919527		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:137822444G>A	uc003erq.2	-	2	733	c.370C>T	c.(370-372)CGT>TGT	p.R124C	DZIP1L_uc003err.1_Missense_Mutation_p.R124C	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	124						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						TGCTGACCACGCTGCTGCTGG	0.652													A	137822444	G	A	137822444	3	1	152	1	0	0	0	0	1	0	0	0	4864	1087	38	1	2002	1	DZIP1L	3	137822444	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1480440	137822444	60199986	235	82052											
CLSTN2	64084	broad.mit.edu	37	chr3	140167465	140167465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgtcttccctccagatcGtcacagagctgcagactaat	8	14	2	3	rs142015908		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:140167465G>A	uc003etn.2	+	6	1082	c.892G>A	c.(892-894)GTC>ATC	p.V298I	CLSTN2_uc003etm.2_Missense_Mutation_p.V298I	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	298	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						CCTCCAGATCGTCACAGAGCT	0.537										HNSCC(16;0.037)			A	140167465	G	A	140167465	3	1	152	1	0	0	0	0	1	0	0	0	3562	1145	40	1	914	1	CLSTN2	3	140167465	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2345021	140167465	57854965	236	82053											
SLC9A9	285195	broad.mit.edu	37	chr3	143513880	143513880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggcagttcccaagaaggCatacgttaaaatagatccta	9	8	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:143513880C>T	uc003evn.2	-	4	678	c.496G>A	c.(496-498)GCC>ACC	p.A166T	SLC9A9_uc011bnk.1_Missense_Mutation_p.A40T	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	166	Helical; (Potential).				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3						CCCAAGAAGGCATACGTTAAA	0.408													T	143513880	C	T	143513880	3	4	152	1	0	0	0	0	1	0	0	0	14721	710	25	2	1493	2	SLC9A9	3	143513880	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	3346415	143513880	54508550	237	82054											
ZIC1	7545	broad.mit.edu	37	chr3	147128364	147128364	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctgccggccacgcgtcGcctaacgtggtcaacgggca	14	15	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:147128364G>A	uc003ewe.2	+	1	1184	c.465G>A	c.(463-465)TCG>TCA	p.S155S		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	155					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GCCACGCGTCGCCTAACGTGG	0.716													A	147128364	G	A	147128364	2	1	152	1	0	0	0	0	0	0	0	1	17675	1074	38	1		1	ZIC1	3	147128364	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	3614484	147128364	50894066	238	82055											
HPS3	84343	broad.mit.edu	37	chr3	148871345	148871345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttttcataggcttgaaagCcatctgtcactttaaaaacc	6	10	3	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:148871345C>T	uc003ewu.1	+	7	1450	c.1310C>T	c.(1309-1311)GCC>GTC	p.A437V	HPS3_uc003ewt.1_Missense_Mutation_p.A437V|HPS3_uc011bnq.1_Missense_Mutation_p.A272V	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	437						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GGCTTGAAAGCCATCTGTCAC	0.403									Hermansky-Pudlak_syndrome				T	148871345	C	T	148871345	3	4	152	1	0	0	0	0	1	0	0	0	7340	739	26	2	1336	2	HPS3	3	148871345	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1742981	148871345	49151085	239	82056											
MFSD1	64747	broad.mit.edu	37	chr3	158520106	158520106	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcttccttggctttggTgagccggccgggtgggttgg	18	8	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:158520106T>C	uc003fcl.1	+	1	193	c.163_splice	c.e1+2	p.G55_splice	MFSD1_uc003fcm.1_Splice_Site|MFSD1_uc003fcn.1_Splice_Site|MFSD1_uc011bow.1_Splice_Site_p.A55_splice|MFSD1_uc011box.1_Intron	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing						transmembrane transport	integral to membrane					0			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTGGCTTTGGTGAGCCGGCCG	0.647													C	158520106	T	C	158520106	5	2	152	1	0	0	0	0	0	0	1	0	9527	1710	59	3	314	3	MFSD1	3	158520106	Splice_Site	SNP	T	TCGA-CD-8536-01A-11D-2340-08	9648761	158520106	39502324	240	82057											
SLITRK3	22865	broad.mit.edu	37	chr3	164906575	164906575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagggcagcttctttcgacGccttcggagcacgtaggcaa	13	11	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:164906575G>A	uc003fej.3	-	2	2488	c.2044C>T	c.(2044-2046)CGT>TGT	p.R682C	SLITRK3_uc003fek.2_Missense_Mutation_p.R682C	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	682	Cytoplasmic (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						TTCTTTCGACGCCTTCGGAGC	0.502										HNSCC(40;0.11)			A	164906575	G	A	164906575	3	1	152	1	0	0	0	0	1	0	0	0	14744	1087	38	1	893	1	SLITRK3	3	164906575	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	6386469	164906575	33115855	241	82058											
PIK3CA	5290	broad.mit.edu	37	chr3	178947200	178947200	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacagccacacactacatcAgtggctcaaagacaagaaca	6	13	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:178947200A>G	uc003fjk.2	+	18	2793	c.2636A>G	c.(2635-2637)CAG>CGG	p.Q879R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	879	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACACTACATCAGTGGCTCAAA	0.403		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178947200	A	G	178947200	3	3	152	1	0	0	0	0	1	0	0	0	11913	188	7	3	2702	3	PIK3CA	3	178947200	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	14040625	178947200	19075230	242	82059											
DCUN1D1	54165	broad.mit.edu	37	chr3	182683470	182683470	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaagacaacttactgcTgttttttcactagattgtgt	8	6	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:182683470T>G	uc003fld.1	-	2	124	c.75A>C	c.(73-75)ACA>ACC	p.T25T	DCUN1D1_uc011bqn.1_5'UTR	NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	RP42 homolog	25	UBA-like.					ubiquitin ligase complex	protein binding			ovary(1)	1	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			AACTTACTGCTGTTTTTTCAC	0.323													G	182683470	T	G	182683470	2	3	152	1	0	0	0	0	0	0	0	1	4313	1567	55	5		5	DCUN1D1	3	182683470	Silent	SNP	T	TCGA-CD-8536-01A-11D-2340-08	3736270	182683470	15338960	243	82060											
TBCCD1	55171	broad.mit.edu	37	chr3	186272478	186272478	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacaactgtggaggtgaAgtgtagtccctacagggccc	13	10	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:186272478A>G	uc003fqg.2	-	6	1238	c.1109T>C	c.(1108-1110)CTT>CCT	p.L370P	TBCCD1_uc011bry.1_Missense_Mutation_p.L370P|TBCCD1_uc003fqh.2_Missense_Mutation_p.L274P	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	370	C-CAP/cofactor C-like.				cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			large_intestine(1)|ovary(1)	2	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		GTGGAGGTGAAGTGTAGTCCC	0.418													G	186272478	A	G	186272478	3	3	152	1	0	0	0	0	1	0	0	0	15629	72	3	3	572	3	TBCCD1	3	186272478	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	3589008	186272478	11749952	244	82061											
APOD	347	broad.mit.edu	37	chr3	195295967	195295967	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacgagggcatagttctcaTagtcggtggccaggatccag	13	10	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:195295967T>C	uc003fur.2	-	5	736	c.374A>G	c.(373-375)TAT>TGT	p.Y125C		NM_001647	NP_001638	P05090	APOD_HUMAN	apolipoprotein D precursor	125					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			ovary(2)	2	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		ATAGTTCTCATAGTCGGTGGC	0.493													C	195295967	T	C	195295967	3	2	152	1	0	0	0	0	1	0	0	0	801	1406	49	3	199	3	APOD	3	195295967	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	9023489	195295967	2726463	245	82062											
LRRC33	375387	broad.mit.edu	37	chr3	196386837	196386837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggagcaaggtcacctgcGcagcctggtcctgggggaca	15	13	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:196386837G>A	uc003fwv.2	+	3	427	c.323G>A	c.(322-324)CGC>CAC	p.R108H		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	108	Extracellular (Potential).|LRR 3.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GGTCACCTGCGCAGCCTGGTC	0.672													A	196386837	G	A	196386837	3	1	152	1	0	0	0	0	1	0	0	0	8988	1087	38	1	329	1	LRRC33	3	196386837	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1090870	196386837	1635593	246	82063											
PDE6B	5158	broad.mit.edu	37	chr4	619660	619660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcttcaaggtcctgcggcGcctctgcaccctcctgcagg	12	16	3	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:619660G>A	uc003gap.2	+	1	298	c.245G>A	c.(244-246)CGC>CAC	p.R82H	PDE6B_uc003gao.3_Missense_Mutation_p.R82H	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	82	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						GTCCTGCGGCGCCTCTGCACC	0.662													A	619660	G	A	619660	3	1	152	1	0	0	0	0	1	0	0	0	11646	1087	38	1	247	1	PDE6B	4	619660	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08		619660	190534616	247	82064											
TACC3	10460	broad.mit.edu	37	chr4	1730345	1730345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcggggctcttaccacctcGactgggacaaaatggatgac	11	12	1	1	rs142494551	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:1730345G>A	uc003gdo.2	+	4	1324	c.1216G>A	c.(1216-1218)GAC>AAC	p.D406N	TACC3_uc010ibz.2_Missense_Mutation_p.D406N|TACC3_uc003gdp.2_Intron|TACC3_uc010ica.2_5'Flank	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing	406				D -> G (in Ref. 2; CAB53009).		centrosome				ovary(1)|central_nervous_system(1)	2		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TTACCACCTCGACTGGGACAA	0.622													A	1730345	G	A	1730345	3	1	152	1	0	0	0	0	1	0	0	0	15500	1058	37	1	1226	1	TACC3	4	1730345	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1110685	1730345	189423931	248	82065											
RGS12	6002	broad.mit.edu	37	chr4	3418713	3418713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaccaggaatgcatcctggCggaagtggagggccgtgcac	16	10	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:3418713C>T	uc003ggw.2	+	8	3405	c.2501C>T	c.(2500-2502)GCG>GTG	p.A834V	RGS12_uc010ics.1_Missense_Mutation_p.A33V|RGS12_uc003ggv.2_Missense_Mutation_p.A834V|RGS12_uc003ggy.1_Missense_Mutation_p.A232V|RGS12_uc010ict.1_Missense_Mutation_p.A186V|RGS12_uc003ggz.2_Missense_Mutation_p.A186V|RGS12_uc010icu.1_Missense_Mutation_p.A33V|RGS12_uc011bvs.1_Missense_Mutation_p.A176V|RGS12_uc003gha.2_Missense_Mutation_p.A176V|RGS12_uc010icv.2_Missense_Mutation_p.A33V|RGS12_uc003ghb.2_Missense_Mutation_p.A33V	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	834						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCATCCTGGCGGAAGTGGAG	0.582													T	3418713	C	T	3418713	3	4	152	1	0	0	0	0	1	0	0	0	13295	768	27	1	2585	1	RGS12	4	3418713	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1688368	3418713	187735563	249	82066											
RGS12	6002	broad.mit.edu	37	chr4	3432638	3432638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaacagcaccttgctgcCgccgccctccaccccccagg	7	24	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:3432638C>T	uc003ggw.2	+	17	4974	c.4070C>T	c.(4069-4071)CCG>CTG	p.P1357L	RGS12_uc003ggv.2_Missense_Mutation_p.P1357L|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.2_Missense_Mutation_p.P709L|RGS12_uc011bvs.1_3'UTR|RGS12_uc003gha.2_Missense_Mutation_p.P699L|RGS12_uc010icv.2_Missense_Mutation_p.P556L	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1357						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCTTGCTGCCGCCGCCCTCC	0.667													T	3432638	C	T	3432638	3	4	152	1	0	0	0	0	1	0	0	0	13295	652	23	1	4190	1	RGS12	4	3432638	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	13925	3432638	187721638	250	82067											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107477	6107477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcgcgcagcacgttcagcGtggcctgcagccgctgcagc	14	16	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:6107477G>A	uc003giu.3	-	3	623	c.347C>T	c.(346-348)ACG>ATG	p.T116M	JAKMIP1_uc010idb.1_Missense_Mutation_p.T116M|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.T116M|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.T116M|JAKMIP1_uc010ide.2_Missense_Mutation_p.T116M	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	116	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						CACGTTCAGCGTGGCCTGCAG	0.731													A	6107477	G	A	6107477	3	1	152	1	0	0	0	0	1	0	0	0	7940	1145	40	1	2299	1	JAKMIP1	4	6107477	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2674839	6107477	185046799	251	82068											
SH3TC1	54436	broad.mit.edu	37	chr4	8229128	8229128	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcctcctggggcggctGtgcagcaggaggctcaagct	15	12	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:8229128G>A	uc003gkv.3	+	12	1808	c.1707G>A	c.(1705-1707)CTG>CTA	p.L569L	SH3TC1_uc003gkw.3_Silent_p.L493L|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	569	TPR 1.						binding			large_intestine(2)|pancreas(1)	3						TGGGGCGGCTGTGCAGCAGGA	0.692													A	8229128	G	A	8229128	2	1	152	1	0	0	0	0	0	0	0	1	14261	1364	48	4		4	SH3TC1	4	8229128	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2121651	8229128	182925148	252	82069											
GPR125	166647	broad.mit.edu	37	chr4	22422644	22422644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccactttctggaacacGgtacaggtcatccccgtgaa	10	13	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:22422644G>A	uc003gqm.1	-	12	1939	c.1674C>T	c.(1672-1674)ACC>ACT	p.T558T	GPR125_uc010ieo.1_Silent_p.T432T|GPR125_uc003gqn.1_Silent_p.T332T|GPR125_uc003gqo.2_Silent_p.T558T	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	558	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				TCTGGAACACGGTACAGGTCA	0.473													A	22422644	G	A	22422644	2	1	152	1	0	0	0	0	0	0	0	1	6639	1103	39	1		1	GPR125	4	22422644	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	14193516	22422644	168731632	253	82070											
GPR125	166647	broad.mit.edu	37	chr4	22475469	22475469	+	Splice_Site	DEL	A	A	-													ttattgttactcagaatcctAaaaaataccaaaaaaataat							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:22475468_22475468TA>T	uc003gqm.1	-	2	523	c.258_splice	c.e2-1	p.L86_splice	GPR125_uc003gqo.3_Splice_Site_p.L86_splice	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	86					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTCAGAATCCTAAAAAATACC	0.289													-	22475469	A	-	22475469	8	5	152	1	0	1	0	1	0	0	1	0	6639	377	13	0		0	GPR125	4	22475469	Splice_Site	DEL	A	TCGA-CD-8536-01A-11D-2340-08	52825	22475469	168678807	254	82071											
GBA3	57733	broad.mit.edu	37	chr4	22749375	22749375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgctaaaagagccatcaCtttccatctggatttatttg	7	9	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:22749375C>T	uc003gqp.3	+	3	834	c.743C>T	c.(742-744)ACT>ATT	p.T248I	GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.T249I	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	248					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0						AGAGCCATCACTTTCCATCTG	0.438													T	22749375	C	T	22749375	3	4	152	1	0	0	0	0	1	0	0	0	6268	565	20	4	753	4	GBA3	4	22749375	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	273906	22749375	168404901	255	82072											
NFXL1	152518	broad.mit.edu	37	chr4	47898565	47898565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacatgtttcacagggacctCggtgacaacgctgtgaacat	10	10	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:47898565C>T	uc010igh.2	-	10	1481	c.1304G>A	c.(1303-1305)CGA>CAA	p.R435Q	NFXL1_uc003gxp.2_Missense_Mutation_p.R435Q|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Missense_Mutation_p.R435Q	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like	435	NF-X1-type 4.					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						ACAGGGACCTCGGTGACAACG	0.398													T	47898565	C	T	47898565	3	4	152	1	0	0	0	0	1	0	0	0	10388	884	31	1	1487	1	NFXL1	4	47898565	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	25149190	47898565	143255711	256	82073											
FIP1L1	81608	broad.mit.edu	37	chr4	54324830	54324830	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaatttcagcgatgaagaaCgatacagatacagggaatat	9	6	2	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:54324830C>T	uc003gzy.2	+	17	1696	c.1510C>T	c.(1510-1512)CGA>TGA	p.R504*	PDGFRA_uc003haa.2_Intron|FIP1L1_uc011bzu.1_Nonsense_Mutation_p.R498*|FIP1L1_uc003gzz.2_Nonsense_Mutation_p.R430*|FIP1L1_uc003hab.2_Nonsense_Mutation_p.R469*|FIP1L1_uc003hac.2_Nonsense_Mutation_p.R258*|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_Silent_p.N88N|FIP1L1_uc003hae.2_Silent_p.N91N	NM_030917	NP_112179	Q6UN15	FIP1_HUMAN	FIP1 like 1 isoform 1	504	Arg-rich.|Sufficient for interaction with CPSF1 and CSTF3.|Glu-rich.				mRNA processing	nucleus	RNA binding			ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CGATGAAGAACGATACAGATA	0.388			T	PDGFRA	idiopathic hypereosinophilic syndrome								T	54324830	C	T	54324830	4	4	152	1	0	0	0	0	0	1	0	0	5896	528	19	1	1607	1	FIP1L1	4	54324830	Nonsense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	6426265	54324830	136829446	257	82074											
EPHA5	2044	broad.mit.edu	37	chr4	66270181	66270181	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggaatctggctttgatcGctggatgctgcaactgctga	12	9	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:66270181G>A	uc003hcy.2	-	8	1894	c.1701C>T	c.(1699-1701)AGC>AGT	p.S567S	EPHA5_uc003hcx.2_Silent_p.S499S|EPHA5_uc003hcz.2_Silent_p.S567S|EPHA5_uc011cah.1_Silent_p.S568S|EPHA5_uc011cai.1_Silent_p.S568S|EPHA5_uc003hda.2_Silent_p.S568S	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	567	Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						GGCTTTGATCGCTGGATGCTG	0.433										TSP Lung(17;0.13)			A	66270181	G	A	66270181	2	1	152	1	0	0	0	0	0	0	0	1	5170	1078	38	1		1	EPHA5	4	66270181	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	11945351	66270181	124884095	258	82075											
UGT2B10	7365	broad.mit.edu	37	chr4	69693142	69693142	+	Frame_Shift_Del	DEL	T	T	-													ctatggtgggcattccattgTtttttgatcaacctgataat							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:69693141_69693141GT>G	uc003hee.3	+	4	1207	c.1182_1182GT>G	c.(1180-1182)ttgfs	p.L394fs	UGT2B10_uc011cam.2_Frame_Shift_Del_p.L310fs	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	394					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.P393S(1)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GCATTCCATTGTTTTTTGATC	0.453													-	69693142	T	-	69693142	7	5	152	1	0	1	0	1	0	0	0	0	16953	1725	60	0	1201	0	UGT2B10	4	69693142	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	3422961	69693142	121461134	259	82076											
ADAMTS3	9508	broad.mit.edu	37	chr4	73280581	73280581	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgggagcctgttctacagcTgatctcttgtagacaacatg	10	9	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:73280581T>C	uc003hgk.1	-	4	649	c.612A>G	c.(610-612)TCA>TCG	p.S204S		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	204					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTTCTACAGCTGATCTCTTGT	0.363													C	73280581	T	C	73280581	2	2	152	1	0	0	0	0	0	0	0	1	267	1567	55	3		3	ADAMTS3	4	73280581	Silent	SNP	T	TCGA-CD-8536-01A-11D-2340-08	3587439	73280581	117873695	260	82077											
NAAA	27163	broad.mit.edu	37	chr4	76842177	76842177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgatgaccaccccctcccGgggggacgtgccaccaacaa	11	17	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:76842177G>A	uc003hjb.2	-	6	830	c.766C>T	c.(766-768)CGG>TGG	p.R256W	NAAA_uc003hja.2_Missense_Mutation_p.R256W|NAAA_uc003hjc.3_Missense_Mutation_p.R256W|NAAA_uc003hjd.3_RNA|NAAA_uc011cbq.1_Missense_Mutation_p.R155W	NM_014435	NP_055250	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase isoform 1	256					lipid metabolic process	lysosome	hydrolase activity			skin(1)	1						ACCCCCTCCCGGGGGGACGTG	0.512													A	76842177	G	A	76842177	3	1	152	1	0	0	0	0	1	0	0	0	10127	1115	39	1	340	1	NAAA	4	76842177	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	3561596	76842177	114312099	261	82078											
PAQR3	152559	broad.mit.edu	37	chr4	79856323	79856323	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attacaaaatcttctctggaCgcacttgctgaaggtaacac	7	10	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:79856323C>T	uc003hlp.1	-	2	504	c.300G>A	c.(298-300)GCG>GCA	p.A100A	PAQR3_uc003hlm.2_RNA|PAQR3_uc003hln.2_Intron|PAQR3_uc003hlq.1_Intron	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	100	Lumenal (Potential).					Golgi membrane|integral to membrane	receptor activity				0						CTTCTCTGGACGCACTTGCTG	0.388													T	79856323	C	T	79856323	2	4	152	1	0	0	0	0	0	0	0	1	11436	523	19	1		1	PAQR3	4	79856323	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	3014146	79856323	111297953	262	82079											
COPS4	51138	broad.mit.edu	37	chr4	83966796	83966796	+	Frame_Shift_Del	DEL	A	A	-													taggtatcgtcagatcctggAaaaagccattcagttatctg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:83966795_83966795GA>G	uc003hoa.3	+	1	230	c.91_91GA>G	c.(91-93)gaafs	p.E31fs	COPS4_uc010ijx.3_Frame_Shift_Del_p.E31fs	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis) (COPS4), mRNA.	31					cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				TCAGATCCTGGAAAAAGCCAT	0.338													-	83966796	A	-	83966796	7	5	152	1	0	1	0	1	0	0	0	0	3735	246	9	0	98	0	COPS4	4	83966796	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	4110473	83966796	107187480	263	82080											
SLC10A6	345274	broad.mit.edu	37	chr4	87746576	87746576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgggtgttcacccacctgCaacaataagaaatccatcta	6	11	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:87746576C>T	uc003hqd.2	-	5	1064	c.916G>A	c.(916-918)GCA>ACA	p.A306T		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	sodium-dependent organic anion transporter	306	Helical; (Potential).					integral to membrane|plasma membrane	bile acid:sodium symporter activity				0		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CACCCACCTGCAACAATAAGA	0.458													T	87746576	C	T	87746576	3	4	152	1	0	0	0	0	1	0	0	0	14378	710	25	2	225	2	SLC10A6	4	87746576	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	3779780	87746576	103407700	264	82081											
TSPAN5	10098	broad.mit.edu	37	chr4	99399941	99399941	+	Frame_Shift_Del	DEL	A	A	-													aggttccaatcatcagctccAaaagccccacagcactgcca					rs75275295		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:99399940_99399940CA>C	uc003hub.3	-	4	907	c.472_472TG>G	c.(472-474)ggafs	p.G158fs	TSPAN5_uc011cdz.2_Frame_Shift_Del_p.G87fs	NM_005723	NP_005714	P62079	TSN5_HUMAN	Homo sapiens tetraspanin 5 (TSPAN5), mRNA.	158						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		TCATCAGCTCCAAAAGCCCCA	0.483													-	99399941	A	-	99399941	7	5	152	1	0	1	0	1	0	0	0	0	16647	127	5	0	351	0	TSPAN5	4	99399941	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	11653365	99399941	91754335	265	82082											
PPP3CA	5530	broad.mit.edu	37	chr4	101947137	101947137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatggcatctctgcgaggcGgcatcctctcattaattcgg	11	12	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:101947137G>A	uc011cen.1	-	14	2126	c.1451C>T	c.(1450-1452)CCG>CTG	p.P484L	PPP3CA_uc003hvu.2_Missense_Mutation_p.P474L|PPP3CA_uc010ilj.2_Missense_Mutation_p.P432L|PPP3CA_uc003hvt.2_Missense_Mutation_p.P461L|PPP3CA_uc003hvs.2_Missense_Mutation_p.P417L|PPP3CA_uc010ilk.2_Missense_Mutation_p.P252L	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha	484	Inhibitory domain.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TCTGCGAGGCGGCATCCTCTC	0.473													A	101947137	G	A	101947137	3	1	152	1	0	0	0	0	1	0	0	0	12397	1116	39	1	118	1	PPP3CA	4	101947137	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2547196	101947137	89207139	266	82083											
PPP3CA	5530	broad.mit.edu	37	chr4	101947156	101947156	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcatcctctcattaattcGgtctaagcccttggcttcct	7	14	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:101947156G>A	uc011cen.1	-	14	2107	c.1432C>T	c.(1432-1434)CGA>TGA	p.R478*	PPP3CA_uc003hvu.2_Nonsense_Mutation_p.R468*|PPP3CA_uc010ilj.2_Nonsense_Mutation_p.R426*|PPP3CA_uc003hvt.2_Nonsense_Mutation_p.R455*|PPP3CA_uc003hvs.2_Nonsense_Mutation_p.R411*|PPP3CA_uc010ilk.2_Nonsense_Mutation_p.R246*	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha	478	Inhibitory domain.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TCATTAATTCGGTCTAAGCCC	0.453													A	101947156	G	A	101947156	4	1	152	1	0	0	0	0	0	1	0	0	12397	1124	39	1	137	1	PPP3CA	4	101947156	Nonsense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	19	101947156	89207120	267	82084											
PAPSS1	9061	broad.mit.edu	37	chr4	108575885	108575885	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttcttgcatgtcgttcccCactgtctggcacagcgctcc	10	15	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:108575885C>T	uc003hyk.2	-	8	1151	c.1067G>A	c.(1066-1068)TGG>TAG	p.W356*	PAPSS1_uc011cfh.1_RNA	NM_005443	NP_005434	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase	356	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TGTCGTTCCCCACTGTCTGGC	0.478													T	108575885	C	T	108575885	4	4	152	1	0	0	0	0	0	1	0	0	11434	595	21	4	827	4	PAPSS1	4	108575885	Nonsense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	6628729	108575885	82578391	268	82085											
AGXT2L1	64850	broad.mit.edu	37	chr4	109674128	109674128	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actggctgagtctgcatggtCttctctatattttcctctgt	8	10	4	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:109674128C>A	uc003hzc.2	-	6	722	c.541G>T	c.(541-543)GAC>TAC	p.D181Y	AGXT2L1_uc010imc.2_Missense_Mutation_p.D175Y|AGXT2L1_uc011cfm.1_Missense_Mutation_p.D141Y|AGXT2L1_uc011cfn.1_Missense_Mutation_p.D108Y|AGXT2L1_uc011cfo.1_Missense_Mutation_p.D123Y	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	alanine-glyoxylate aminotransferase 2-like 1	181					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		TCTGCATGGTCTTCTCTATAT	0.363													A	109674128	C	A	109674128	3	1	152	1	0	0	0	0	1	0	0	0	406	913	32	5	990	5	AGXT2L1	4	109674128	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1098243	109674128	81480148	269	82086											
SEC24B	10427	broad.mit.edu	37	chr4	110433166	110433166	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgccgatcctgtcgaacGtatattaacccctttgtatc	8	11	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:110433166G>A	uc003hzk.2	+	9	1885	c.1830G>A	c.(1828-1830)ACG>ACA	p.T610T	SEC24B_uc003hzl.2_Silent_p.T575T|SEC24B_uc011cfp.1_Silent_p.T640T|SEC24B_uc011cfq.1_Silent_p.T609T|SEC24B_uc011cfr.1_Silent_p.T574T	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	610	Zinc finger-like.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CCTGTCGAACGTATATTAACC	0.373													A	110433166	G	A	110433166	2	1	152	1	0	0	0	0	0	0	0	1	13995	1132	40	1		1	SEC24B	4	110433166	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	759038	110433166	80721110	270	82087											
ARSJ	79642	broad.mit.edu	37	chr4	114823938	114823938	+	Frame_Shift_Del	DEL	T	T	-													agcctgctgcccaggagccaTtttttgccttggtgtatatg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:114823937_114823937AT>A	uc003ibq.1	-	1	2181	c.1293_1293AT>T	c.(1291-1293)aatfs	p.N431fs	ARSJ_uc010imu.1_Frame_Shift_Del_p.N431fs|ARSJ_uc010imv.1_Frame_Shift_Del_p.N259fs	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	431						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CCCAGGAGCCATTTTTTGCCT	0.488													-	114823938	T	-	114823938	7	5	152	1	0	1	0	1	0	0	0	0	995	1493	52	0	511	0	ARSJ	4	114823938	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	4390772	114823938	76330338	271	82088											
KIAA1109	84162	broad.mit.edu	37	chr4	123274120	123274120	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtggtatcaggatgccaCatatccttatttcagattcc	8	9	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:123274120C>T	uc003ieh.2	+	79	13956	c.13911C>T	c.(13909-13911)CAC>CAT	p.H4637H	KIAA1109_uc003iem.2_Silent_p.H993H	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4637					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CAGGATGCCACATATCCTTAT	0.413													T	123274120	C	T	123274120	2	4	152	1	0	0	0	0	0	0	0	1	8208	477	17	4		4	KIAA1109	4	123274120	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	8450182	123274120	67880156	272	82089											
PCDH10	57575	broad.mit.edu	37	chr4	134073842	134073842	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcggagtacggacactgaGcacaacccctgcggggccat	13	14	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:134073842G>A	uc003iha.2	+	1	3373	c.2547G>A	c.(2545-2547)GAG>GAA	p.E849E	PCDH10_uc003igz.2_Silent_p.E849E	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	849	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CGGACACTGAGCACAACCCCT	0.557													A	134073842	G	A	134073842	2	1	152	1	0	0	0	0	0	0	0	1	11507	962	34	2		2	PCDH10	4	134073842	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	10799722	134073842	57080434	273	82090											
UCP1	7350	broad.mit.edu	37	chr4	141484368	141484368	+	Splice_Site	DEL	G	G	-													tcagattgggagtagtccctGgggaaaaaaaaaaagaaaat							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:141484367_141484367TG>T	uc011chj.2	-	4	603	c.527_splice	c.e4-1	p.G176_splice	UCP1_uc011chk.2_Splice_Site_p.G175_splice	NM_021833	NP_068605	P25874	UCP1_HUMAN	Homo sapiens uncoupling protein 1 (mitochondrial, proton carrier) (UCP1), nuclear gene encoding mitochondrial protein, mRNA.	176					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					GAGTAGTCCCTGGGGAAAAAA	0.333													-	141484368	G	-	141484368	8	5	152	1	0	1	0	1	0	0	1	0	16927	1363	47	0		0	UCP1	4	141484368	Splice_Site	DEL	G	TCGA-CD-8536-01A-11D-2340-08	7410526	141484368	49669908	274	82091											
FBXW7	55294	broad.mit.edu	37	chr4	153249361	153249361	+	Splice_Site	DEL	T	T	-													tgacaagattttcccttaccTtttttcatgaagatgcatac							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:153249360_153249360CT>C	uc003ims.3	-	9	1580	c.1418_splice	c.e9+1	p.R473_splice	FBXW7_uc011cii.2_Splice_Site_p.R473_splice|FBXW7_uc003imt.3_Splice_Site_p.R473_splice|FBXW7_uc011cih.2_Splice_Site_p.R297_splice|FBXW7_uc003imq.3_Splice_Site_p.R393_splice|FBXW7_uc003imr.3_Splice_Site_p.R355_splice	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	473					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R473fs*4(3)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTTCCCTTACCTTTTTTCATG	0.418			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								-	153249361	T	-	153249361	8	5	152	1	0	1	0	1	0	0	1	0	5769	1623	56	0	722	0	FBXW7	4	153249361	Splice_Site	DEL	T	TCGA-CD-8536-01A-11D-2340-08	11764993	153249361	37904915	275	82092											
FGA	2243	broad.mit.edu	37	chr4	155507102	155507102	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgtgcctaaatccattgcCtcgggacagtcagaaccatc	8	12	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:155507102C>A	uc003iod.1	-	5	1537	c.1479G>T	c.(1477-1479)GAG>GAT	p.E493D	FGA_uc003ioe.1_Missense_Mutation_p.E493D|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	493	By similarity.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AATCCATTGCCTCGGGACAGT	0.488													A	155507102	C	A	155507102	3	1	152	1	0	0	0	0	1	0	0	0	5830	680	24	5	1173	5	FGA	4	155507102	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	2257741	155507102	35647174	276	82093											
GRIA2	2891	broad.mit.edu	37	chr4	158224833	158224833	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccagcttcccaacagatgGcacacatccatttgtcattc	5	15	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:158224833G>T	uc003ipm.3	+	3	818	c.359G>T	c.(358-360)GGC>GTC	p.G120V	GRIA2_uc011cit.1_Missense_Mutation_p.G73V|GRIA2_uc003ipl.3_Missense_Mutation_p.G120V|GRIA2_uc003ipk.3_Missense_Mutation_p.G73V|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	120	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CCAACAGATGGCACACATCCA	0.428													T	158224833	G	T	158224833	3	4	152	1	0	0	0	0	1	0	0	0	6768	1203	42	5	369	5	GRIA2	4	158224833	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2717731	158224833	32929443	277	82094											
C4orf46	201725	broad.mit.edu	37	chr4	159590811	159590811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccttctttcaagaggtccCgccacgttttaaggaaacgt	9	11	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:159590811C>T	uc003iqa.2	-	2	545	c.296G>A	c.(295-297)CGG>CAG	p.R99Q	C4orf46_uc010iqp.1_RNA|ETFDH_uc010iqq.2_5'Flank|ETFDH_uc003iqb.2_5'Flank|ETFDH_uc011cjg.1_5'Flank|ETFDH_uc010iqr.2_5'Flank	NM_001008393	NP_001008394	Q504U0	CD046_HUMAN	hypothetical protein LOC201725	99										skin(1)	1						CAAGAGGTCCCGCCACGTTTT	0.383													T	159590811	C	T	159590811	3	4	152	1	0	0	0	0	1	0	0	0	2274	652	23	1	49	1	C4orf46	4	159590811	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1365978	159590811	31563465	278	82095											
WDR17	116966	broad.mit.edu	37	chr4	177100674	177100674	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgatgctttgatgtggGcaaaggtgaatccattctca	11	6	1	4			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:177100674G>T	uc003iuj.2	+	31	4069	c.3913G>T	c.(3913-3915)GCA>TCA	p.A1305S	WDR17_uc003iuk.2_Missense_Mutation_p.A1281S|WDR17_uc003ium.3_Missense_Mutation_p.A1266S|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.A516S	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	1305										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		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;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTTGATGTGGGCAAAGGTGAA	0.393													T	177100674	G	T	177100674	3	4	152	1	0	0	0	0	1	0	0	0	17274	1203	42	5	4031	5	WDR17	4	177100674	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	17509863	177100674	14053602	279	82096											
ODZ3	55714	broad.mit.edu	37	chr4	183721399	183721399	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcgccggcaaggtgcaGggctacgacgggtactacgt	16	11	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:183721399G>A	uc003ivd.1	+	27	8032	c.7995G>A	c.(7993-7995)CAG>CAA	p.Q2665Q		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2665	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GCAAGGTGCAGGGCTACGACG	0.701													A	183721399	G	A	183721399	2	1	152	1	0	0	0	0	0	0	0	1	10836	991	35	4		4	ODZ3	4	183721399	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	6620725	183721399	7432877	280	82097											
ODZ3	55714	broad.mit.edu	37	chr4	183721417	183721417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggctacgacgggtactaCgtactctcggtggagcagta	14	10	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:183721417C>T	uc003ivd.1	+	27	8050	c.8013C>T	c.(8011-8013)TAC>TAT	p.Y2671Y		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2671	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ACGGGTACTACGTACTCTCGG	0.701													T	183721417	C	T	183721417	2	4	152	1	0	0	0	0	0	0	0	1	10836	547	19	1		1	ODZ3	4	183721417	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	18	183721417	7432859	281	82098											
FAT1	2195	broad.mit.edu	37	chr4	187517784	187517784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggcaggtttggcgccaCgctgcagaccgccactgctt	15	13	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:187517784C>T	uc003izf.2	-	25	13098	c.12910G>A	c.(12910-12912)GTG>ATG	p.V4304M	FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_Missense_Mutation_p.V195M	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4304	Cytoplasmic (Potential).				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TTTGGCGCCACGCTGCAGACC	0.557										HNSCC(5;0.00058)			T	187517784	C	T	187517784	3	4	152	1	0	0	0	0	1	0	0	0	5689	536	19	1	868	1	FAT1	4	187517784	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	3796367	187517784	3636492	282	82099											
FAT1	2195	broad.mit.edu	37	chr4	187541450	187541450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacatagcgaatgacatggCccacctcagtgtccacttta	8	12	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:187541450C>T	uc003izf.2	-	10	6478	c.6290G>A	c.(6289-6291)GGC>GAC	p.G2097D		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2097	Extracellular (Potential).|Cadherin 19.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						AATGACATGGCCCACCTCAGT	0.468										HNSCC(5;0.00058)			T	187541450	C	T	187541450	3	4	152	1	0	0	0	0	1	0	0	0	5689	739	26	2	7548	2	FAT1	4	187541450	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	23666	187541450	3612826	283	82100											
AHRR	57491	broad.mit.edu	37	chr5	376803	376803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcctcttgcagggtctgCcgtgctggagggaaggctgc	16	11	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:376803C>T	uc003jav.2	+	4	379	c.335C>T	c.(334-336)GCC>GTC	p.A112V	AHRR_uc003jaw.2_Missense_Mutation_p.A108V|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Missense_Mutation_p.A108V	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	112	PAS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCAGGGTCTGCCGTGCTGGAG	0.617													T	376803	C	T	376803	3	4	152	1	0	0	0	0	1	0	0	0	417	739	26	2	349	2	AHRR	5	376803	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08		376803	180538457	284	82101											
EXOC3	11336	broad.mit.edu	37	chr5	453975	453975	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaaattataaggaagtaCgtcctggatgacctcattgt	10	7	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:453975C>T	uc003jba.2	+	4	983	c.855C>T	c.(853-855)TAC>TAT	p.Y285Y		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Sec6 protein	296					exocytosis|protein transport						0		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TAAGGAAGTACGTCCTGGATG	0.498													T	453975	C	T	453975	2	4	152	1	0	0	0	0	0	0	0	1	5303	547	19	1		1	EXOC3	5	453975	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	77172	453975	180461285	285	82102											
SLC12A7	10723	broad.mit.edu	37	chr5	1074698	1074698	+	Frame_Shift_Del	DEL	G	G	-													tcacctccagttcttggtgtGggggggaccgtgctccacgc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:1074697_1074697TG>T	uc003jbu.3	-	15	2123	c.2057_2057CA>A	c.(2056-2058)cacfs	p.H686fs		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	686					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GTTCTTGGTGTGGGGGGGACC	0.647													-	1074698	G	-	1074698	7	5	152	1	0	1	0	1	0	0	0	0	14388	1348	47	0	1231	0	SLC12A7	5	1074698	Frame_Shift_Del	DEL	G	TCGA-CD-8536-01A-11D-2340-08	620723	1074698	179840562	286	82103											
ADCY2	108	broad.mit.edu	37	chr5	7789844	7789844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatggagaacctgaaccgCgtgctgctggagaacgtgct	13	11	0	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:7789844C>T	uc003jdz.1	+	20	2626	c.2559C>T	c.(2557-2559)CGC>CGT	p.R853R	ADCY2_uc011cmo.1_Silent_p.R673R|ADCY2_uc010itm.1_Silent_p.R49R	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	853	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						ACCTGAACCGCGTGCTGCTGG	0.532													T	7789844	C	T	7789844	2	4	152	1	0	0	0	0	0	0	0	1	294	755	27	1		1	ADCY2	5	7789844	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	6715146	7789844	173125416	287	82104											
FBXL7	23194	broad.mit.edu	37	chr5	15616115	15616115	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggcagctcgagcatctcaTctgacgtgagttcaagtaca	10	10	3	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:15616115T>C	uc003jfn.1	+	2	542	c.61T>C	c.(61-63)TCT>CCT	p.S21P		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	21					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						GAGCATCTCATCTGACGTGAG	0.493													C	15616115	T	C	15616115	3	2	152	1	0	0	0	0	1	0	0	0	5724	1435	50	3	67	3	FBXL7	5	15616115	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	7826271	15616115	165299145	288	82105											
CDH9	1007	broad.mit.edu	37	chr5	26885832	26885832	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatgtttccttgattatcGcaggcacacacacggatagt	9	10	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:26885832G>A	uc003jgs.1	-	11	1942	c.1773C>T	c.(1771-1773)TGC>TGT	p.C591C	CDH9_uc011cnv.1_Silent_p.C184C	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	591	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						CTTGATTATCGCAGGCACACA	0.483													A	26885832	G	A	26885832	2	1	152	1	0	0	0	0	0	0	0	1	3117	1079	38	1		1	CDH9	5	26885832	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	11269717	26885832	154029428	289	82106											
BRIX1	55299	broad.mit.edu	37	chr5	34925491	34925491	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggagaaaccaatagaaaTacagtgggtaaaaccagagc	11	6	0	4			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:34925491T>C	uc003jja.2	+	10	977	c.953T>C	c.(952-954)ATA>ACA	p.I318T		NM_018321	NP_060791	Q8TDN6	BRX1_HUMAN	BRIX	318					ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding				0						CCAATAGAAATACAGTGGGTA	0.398													C	34925491	T	C	34925491	3	2	152	1	0	0	0	0	1	0	0	0	1515	1406	49	3	991	3	BRIX1	5	34925491	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	8039659	34925491	145989769	290	82107											
C5orf42	65250	broad.mit.edu	37	chr5	37162611	37162611	+	Frame_Shift_Del	DEL	T	T	-													cttgacttcctatagctttcTtttttacagaggccatgaaa							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:37162610_37162610CT>C	uc011cpa.1	-	37	7878	c.7647_7647AG>G	c.(7645-7647)aagfs	p.K2549fs	C5orf42_uc011coy.1_Frame_Shift_Del_p.K1049fs|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Frame_Shift_Del_p.K1624fs	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2549										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTATAGCTTTCTTTTTTACAG	0.289													-	37162611	T	-	37162611	7	5	152	1	0	1	0	1	0	0	0	0	2301	1609	56	0	2007	0	C5orf42	5	37162611	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	2237120	37162611	143752649	291	82108											
C5orf42	65250	broad.mit.edu	37	chr5	37198876	37198876	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggaaaagaacactgagcCgcccggaaaagcaggagaac	12	10	0	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:37198876C>T	uc011cpa.1	-	20	3831	c.3600G>A	c.(3598-3600)GCG>GCA	p.A1200A	C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Silent_p.A275A|C5orf42_uc011cpb.1_Silent_p.A81A	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1200										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)			AACACTGAGCCGCCCGGAAAA	0.418													T	37198876	C	T	37198876	2	4	152	1	0	0	0	0	0	0	0	1	2301	639	23	1		1	C5orf42	5	37198876	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	36265	37198876	143716384	292	82109											
OSMR	9180	broad.mit.edu	37	chr5	38885558	38885558	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttggggtggtctaaacaaCcttcccaaagctacacttta	7	12	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:38885558C>A	uc003jln.1	+	6	1178	c.811C>A	c.(811-813)CCT>ACT	p.P271T	OSMR_uc003jlm.1_Missense_Mutation_p.P271T	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	271	Extracellular (Potential).				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)					GTCTAAACAACCTTCCCAAAG	0.453													A	38885558	C	A	38885558	3	1	152	1	0	0	0	0	1	0	0	0	11292	507	18	5	829	5	OSMR	5	38885558	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1686682	38885558	142029702	293	82110											
C7	730	broad.mit.edu	37	chr5	40958136	40958136	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtctttatctctatagcTgacacctttatatgagctgg	7	8	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:40958136T>C	uc003jmh.2	+	11	1376	c.1262T>C	c.(1261-1263)CTG>CCG	p.L421P	C7_uc011cpn.1_RNA	NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	421	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)				TCTCTATAGCTGACACCTTTA	0.363													C	40958136	T	C	40958136	3	2	152	1	0	0	0	0	1	0	0	0	2375	1594	55	3	1304	3	C7	5	40958136	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	2072578	40958136	139957124	294	82111											
HEATR7B2	133558	broad.mit.edu	37	chr5	41065464	41065464	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaattcagccagggcaagCacaacgaattcatctggtag	10	11	3	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:41065464C>T	uc003jmj.3	-	4	820	c.330G>A	c.(328-330)GTG>GTA	p.V110V		NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	110							binding			ovary(6)|central_nervous_system(2)	8						CCAGGGCAAGCACAACGAATT	0.418													T	41065464	C	T	41065464	2	4	152	1	0	0	0	0	0	0	0	1	7035	697	25	2		2	HEATR7B2	5	41065464	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	107328	41065464	139849796	295	82112											
ISL1	3670	broad.mit.edu	37	chr5	50685507	50685507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctccgccaggcagccagCcctgcggccccacgtccaca	9	21	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:50685507C>T	uc003jor.2	+	4	1054	c.506C>T	c.(505-507)GCC>GTC	p.A169V		NM_002202	NP_002193	P61371	ISL1_HUMAN	islet-1	169					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3		Lung NSC(810;0.000845)|Breast(144;0.0411)				AGGCAGCCAGCCCTGCGGCCC	0.577													T	50685507	C	T	50685507	3	4	152	1	0	0	0	0	1	0	0	0	7856	739	26	2	520	2	ISL1	5	50685507	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	9620043	50685507	130229753	296	82113											
IPO11	51194	broad.mit.edu	37	chr5	61747671	61747671	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaaagtccaggatgatcttCgacagcacagagcattactt	8	9	1	2	rs138490998		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:61747671C>T	uc003jtc.2	+	5	617	c.427C>T	c.(427-429)CGA>TGA	p.R143*	IPO11_uc011cqr.1_Nonsense_Mutation_p.R183*|IPO11_uc003jtb.1_Nonsense_Mutation_p.R143*	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2	143	HEAT 1.					cytoplasm|nucleus	protein binding			lung(2)|skin(2)	4		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GGATGATCTTCGACAGCACAG	0.403													T	61747671	C	T	61747671	4	4	152	1	0	0	0	0	0	1	0	0	7793	876	31	1	565	1	IPO11	5	61747671	Nonsense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	11062164	61747671	119167589	297	82114											
HTR1A	3350	broad.mit.edu	37	chr5	63256560	63256560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcttgcgcttcgcctcGgcgttgcgctcatttttcct	9	15	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:63256560G>A	uc011cqt.1	-	1	987	c.987C>T	c.(985-987)GCC>GCT	p.A329A		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	329	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCTTCGCCTCGGCGTTGCGCT	0.607													A	63256560	G	A	63256560	2	1	152	1	0	0	0	0	0	0	0	1	7436	1103	39	1		1	HTR1A	5	63256560	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1508889	63256560	117658700	298	82115											
ERBB2IP	55914	broad.mit.edu	37	chr5	65371014	65371014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagcctccatatacacagCcccattgttctcctagacaa	4	16	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:65371014C>T	uc003juk.1	+	23	4227	c.3919C>T	c.(3919-3921)CCC>TCC	p.P1307S	ERBB2IP_uc003jui.1_Missense_Mutation_p.P1266S|ERBB2IP_uc003juj.1_Intron|ERBB2IP_uc011cqx.1_Missense_Mutation_p.P1314S|ERBB2IP_uc011cqy.1_Missense_Mutation_p.P1266S|ERBB2IP_uc011cqz.1_Missense_Mutation_p.P505S|ERBB2IP_uc010iwx.1_Missense_Mutation_p.P1310S|ERBB2IP_uc003jul.1_Missense_Mutation_p.P1262S	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	1307					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ATATACACAGCCCCATTGTTC	0.423													T	65371014	C	T	65371014	3	4	152	1	0	0	0	0	1	0	0	0	5207	739	26	2	3874	2	ERBB2IP	5	65371014	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	2114454	65371014	115544246	299	82116											
CENPH	64946	broad.mit.edu	37	chr5	68504111	68504112	+	Frame_Shift_Del	DEL	AG	AG	-													ttggacagtatggaaaactcAgagaggataaagatcatacg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:68504110_68504111CAG>C	uc003jvp.3	+	7	662_663	c.575_576CAG>C	c.(574-576)tcafs	p.S192fs	CENPH_uc010ixc.3_Frame_Shift_Del_p.S173fs	NM_022909	NP_075060	Q9H3R5	CENPH_HUMAN	Homo sapiens centromere protein H (CENPH), mRNA.	192					CenH3-containing nucleosome assembly at centromere|cell division|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding			kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		ATGGAAAACTCAGAGAGGATAA	0.312													-	68504112	AG	-	68504111	7	5	152	1	0	1	0	1	0	0	0	0	3232	175	7	0	606	0	CENPH	5	68504111	Frame_Shift_Del	DEL	AG	TCGA-CD-8536-01A-11D-2340-08	3133097	68504111	112411149	300	82117											
CCDC125	202243	broad.mit.edu	37	chr5	68590648	68590648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctgaagaagcagtttcCgagtggatgctgccattctg	13	8	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:68590648C>T	uc003jvv.1	-	8	939	c.896G>A	c.(895-897)CGG>CAG	p.R299Q	CCDC125_uc003jvx.1_Missense_Mutation_p.R298Q|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_Missense_Mutation_p.R174Q	NM_176816	NP_789786	Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	299	Potential.					cytoplasm					0		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		AAGCAGTTTCCGAGTGGATGC	0.443													T	68590648	C	T	68590648	3	4	152	1	0	0	0	0	1	0	0	0	2761	652	23	1	655	1	CCDC125	5	68590648	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	86537	68590648	112324612	301	82118											
ZFYVE16	9765	broad.mit.edu	37	chr5	79732949	79732949	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagaagatattaaaaaaTtattgccagatgattttaag	8	2	0	5			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:79732949T>A	uc003kgr.3	+	4	747	c.445T>A	c.(445-447)TTA>ATA	p.L149I	ZFYVE16_uc010jak.1_Missense_Mutation_p.L149I|ZFYVE16_uc003kgp.2_Missense_Mutation_p.L149I|ZFYVE16_uc003kgq.3_Missense_Mutation_p.L149I|ZFYVE16_uc003kgs.3_Missense_Mutation_p.L149I	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	149					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity				0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TATTAAAAAATTATTGCCAGA	0.358													A	79732949	T	A	79732949	3	1	152	1	0	0	0	0	1	0	0	0	17661	1490	52	5	451	5	ZFYVE16	5	79732949	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	11142301	79732949	101182311	302	82119											
MBLAC2	153364	broad.mit.edu	37	chr5	89770030	89770030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagatgttggcacggttgCccgactcgtagaaacgttct	12	11	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:89770030C>T	uc003kjp.2	-	1	556	c.80G>A	c.(79-81)GGC>GAC	p.G27D	POLR3G_uc003kjq.2_5'Flank|POLR3G_uc011cuc.1_5'Flank	NM_203406	NP_981951	Q68D91	MBLC2_HUMAN	beta-lactamase-like	27							hydrolase activity|metal ion binding				0						GGCACGGTTGCCCGACTCGTA	0.622													T	89770030	C	T	89770030	3	4	152	1	0	0	0	0	1	0	0	0	9352	739	26	2	767	2	MBLAC2	5	89770030	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	10037081	89770030	91145230	303	82120											
TTC37	9652	broad.mit.edu	37	chr5	94876525	94876525	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttatcaacttgtgccatgTtcgagccacctattaaagaa	6	9	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:94876525T>A	uc003klb.2	-	8	682	c.412A>T	c.(412-414)ACA>TCA	p.T138S	TTC37_uc010jbf.1_Missense_Mutation_p.T90S	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	138							binding			ovary(3)|pancreas(1)	4						TTGTGCCATGTTCGAGCCACC	0.318													A	94876525	T	A	94876525	3	1	152	1	0	0	0	0	1	0	0	0	16702	1725	60	5	4426	5	TTC37	5	94876525	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	5106495	94876525	86038735	304	82121											
APC	324	broad.mit.edu	37	chr5	112176017	112176017	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgatgatattgaaatactaGaagaatgtattatttctgcc	7	4	1	5			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:112176017G>T	uc010jby.2	+	16	5106	c.4726G>T	c.(4726-4728)GAA>TAA	p.E1576*	APC_uc011cvt.1_Nonsense_Mutation_p.E1558*|APC_uc003kpz.3_Nonsense_Mutation_p.E1576*|APC_uc003kpy.3_Nonsense_Mutation_p.E1576*|APC_uc010jbz.2_Nonsense_Mutation_p.E1293*|APC_uc010jca.2_Nonsense_Mutation_p.E876*	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1576	Ser-rich.|Asp/Glu-rich (acidic).				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.E1576fs*74(1)|p.K1192fs*3(1)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGAAATACTAGAAGAATGTAT	0.363		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			T	112176017	G	T	112176017	4	4	152	1	0	0	0	0	0	1	0	0	763	943	33	5	4784	5	APC	5	112176017	Nonsense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	17299492	112176017	68739243	305	82122											
SRP19	6728	broad.mit.edu	37	chr5	112228760	112228760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagagacagaactgttcagaGtccccaatccaaataaacta	6	10	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:112228760G>A	uc011cvv.1	+	4	1754	c.1499G>A	c.(1498-1500)AGT>AAT	p.S500N	SRP19_uc011cvu.1_Missense_Mutation_p.S485N|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron			P09132	SRP19_HUMAN	SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;	Error:Variant_position_missing_in_P09132_after_alignment					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		ACTGTTCAGAGTCCCCAATCC	0.368													A	112228760	G	A	112228760	3	1	152	1	0	0	0	0	1	0	0	0	15153	1044	36	4		4	SRP19	5	112228760	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	52743	112228760	68686500	306	82123											
FBN2	2201	broad.mit.edu	37	chr5	127599209	127599209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaggggttcttggaggaCgagcactcattcacgtcgtg	14	9	3	0	rs138659121		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:127599209C>T	uc003kuu.2	-	63	8539	c.8100G>A	c.(8098-8100)TCG>TCA	p.S2700S		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2700	EGF-like 47; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCTTGGAGGACGAGCACTCAT	0.602													T	127599209	C	T	127599209	2	4	152	1	0	0	0	0	0	0	0	1	5703	523	19	1		1	FBN2	5	127599209	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	15370449	127599209	53316051	307	82124											
SEC24A	10802	broad.mit.edu	37	chr5	134011749	134011749	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgactagcattcctcagacGcaggccttattgaataaagc	8	11	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:134011749G>A	uc003kzs.2	+	7	1476	c.1188G>A	c.(1186-1188)ACG>ACA	p.T396T	SEC24A_uc011cxu.1_Silent_p.T160T	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	396					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCCTCAGACGCAGGCCTTAT	0.328													A	134011749	G	A	134011749	2	1	152	1	0	0	0	0	0	0	0	1	13994	1074	38	1		1	SEC24A	5	134011749	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	6412540	134011749	46903511	308	82125											
LOC153328	153328	broad.mit.edu	37	chr5	135207423	135207423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggtaagggcagcagcaGctggagccgcacccctgtgc	16	13	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:135207423G>A	uc003laz.1	+	5	867	c.695G>A	c.(694-696)AGC>AAC	p.S232N	LOC153328_uc003lba.2_Intron			Q6ZT89	S2548_HUMAN	RecName: Full=Putative mitochondrial carrier protein FLJ44862;	230	Solcar 3.|Helical; Name=5; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCAGCAGCAGCTGGAGCCGC	0.652													A	135207423	G	A	135207423	3	1	152	1	0	0	0	0	1	0	0	0	8871	986	34	2		2	LOC153328	5	135207423	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1195674	135207423	45707837	309	82126											
CDC25C	995	broad.mit.edu	37	chr5	137661596	137661596	+	Splice_Site	DEL	A	A	-													gctacaaagaagctgtgcctAaaaaagagagtttgctgaga							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:137661595_137661595TA>T	uc003lcs.1	-	6	804	c.604_splice	c.e6-1	p.A202_splice	CDC25C_uc003lcp.1_Splice_Site_p.A124_splice|CDC25C_uc003lcq.1_Intron|CDC25C_uc003lcr.1_Splice_Site_p.A124_splice|CDC25C_uc011cyp.1_Splice_Site_p.A141_splice|CDC25C_uc010jet.1_Intron|CDC25C_uc003lct.1_Intron|CDC25C_uc003lcu.1_Splice_Site_p.A81_splice	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	124					DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AAGCTGTGCCTAAAAAAGAGA	0.438													-	137661596	A	-	137661596	8	5	152	1	0	1	0	1	0	0	1	0	3064	377	13	0		0	CDC25C	5	137661596	Splice_Site	DEL	A	TCGA-CD-8536-01A-11D-2340-08	2454173	137661596	43253664	310	82127											
DNAJC18	202052	broad.mit.edu	37	chr5	138764375	138764375	+	Splice_Site	DEL	A	A	-													tttctgcatttcttgatcctAaaaaaaatcacaagcatgta							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373													-	138764375	A	-	138764375	8	5	152	1	0	1	0	1	0	0	1	0	4637	377	13	0		0	DNAJC18	5	138764375	Splice_Site	DEL	A	TCGA-CD-8536-01A-11D-2340-08	1102779	138764375	42150885	311	82128											
TMCO6	55374	broad.mit.edu	37	chr5	140024273	140024273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccttttctgacactgaagTagtaggccagagtttggagc	12	8	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140024273T>C	uc003lgl.2	+	11	1417	c.1316T>C	c.(1315-1317)GTA>GCA	p.V439A	TMCO6_uc003lgm.2_Missense_Mutation_p.V445A|TMCO6_uc010jft.2_Missense_Mutation_p.V199A|TMCO6_uc003lgn.2_Missense_Mutation_p.V330A|TMCO6_uc003lgo.2_Missense_Mutation_p.V199A	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	439					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACACTGAAGTAGTAGGCCAG	0.557													C	140024273	T	C	140024273	3	2	152	1	0	0	0	0	1	0	0	0	15997	1638	57	3	1358	3	TMCO6	5	140024273	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	1259898	140024273	40890987	312	82129											
HARS	3035	broad.mit.edu	37	chr5	140057274	140057274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactgaggagcagatggtaCggaacttgctgtcagaaaca	12	8	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140057274C>T	uc003lgv.2	-	7	777	c.695G>A	c.(694-696)CGT>CAT	p.R232H	HARS_uc003lgu.2_Missense_Mutation_p.R163H|HARS_uc011czm.1_Missense_Mutation_p.R192H|HARS_uc003lgw.2_Missense_Mutation_p.R212H|HARS_uc011czn.1_Missense_Mutation_p.R172H|HARS_uc010jfu.2_Missense_Mutation_p.R232H|HARS_uc011czo.1_Missense_Mutation_p.R158H|HARS_uc011czp.1_Missense_Mutation_p.R118H|HARS_uc011czq.1_Missense_Mutation_p.R122H	NM_002109	NP_002100	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	232					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GCAGATGGTACGGAACTTGCT	0.478													T	140057274	C	T	140057274	3	4	152	1	0	0	0	0	1	0	0	0	6959	536	19	1	862	1	HARS	5	140057274	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	33001	140057274	40857986	313	82130											
PCDHA2	56146	broad.mit.edu	37	chr5	140176173	140176173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcgcgcgggatgcgggcGtgccgcctctgggcagcaac	18	13	1	1	rs149176013		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140176173G>A	uc003lhd.2	+	1	1730	c.1624G>A	c.(1624-1626)GTG>ATG	p.V542M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.V542M|PCDHA2_uc011czy.1_Missense_Mutation_p.V542M	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	542	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGCGGGCGTGCCGCCTCT	0.687													A	140176173	G	A	140176173	3	1	152	1	0	0	0	0	1	0	0	0	11524	1145	40	1	1626	1	PCDHA2	5	140176173	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	118899	140176173	40739087	314	82131											
PCDHA8	56140	broad.mit.edu	37	chr5	140222368	140222368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcggacgcgcaggagaacGcgctggtgtcctactcgctt	14	13	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140222368G>A	uc003lhs.2	+	1	1462	c.1462G>A	c.(1462-1464)GCG>ACG	p.A488T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.A488T	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	488	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGAGAACGCGCTGGTGTC	0.657													A	140222368	G	A	140222368	3	1	152	1	0	0	0	0	1	0	0	0	11530	1087	38	1	1464	1	PCDHA8	5	140222368	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	46195	140222368	40692892	315	82132											
PCDHA9	9752	broad.mit.edu	37	chr5	140230333	140230333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggagttggtcgtactcGcagcagaggaggcagagggt	20	6	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140230333G>A	uc003lhu.2	+	1	2977	c.2253G>A	c.(2251-2253)TCG>TCA	p.S751S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.S751S	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	751	Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCGTACTCGCAGCAGAGGA	0.647													A	140230333	G	A	140230333	2	1	152	1	0	0	0	0	0	0	0	1	11531	1074	38	1		1	PCDHA9	5	140230333	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	7965	140230333	40684927	316	82133											
PCDHAC1	56135	broad.mit.edu	37	chr5	140307927	140307927	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggccttgtctcttatgagCtgttggatgttatctctgaa	10	7	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140307927C>A	uc003lih.2	+	1	1626	c.1450C>A	c.(1450-1452)CTG>ATG	p.L484M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.L484M	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	484	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTTATGAGCTGTTGGATGT	0.532													A	140307927	C	A	140307927	3	1	152	1	0	0	0	0	1	0	0	0	11532	796	28	5	1452	5	PCDHAC1	5	140307927	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	77594	140307927	40607333	317	82134											
PCDHAC2	56134	broad.mit.edu	37	chr5	140346866	140346866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctttcacatagagagtgCgcaggaccccgacgtgggcg	15	12	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140346866C>T	uc003lii.2	+	1	755	c.515C>T	c.(514-516)GCG>GTG	p.A172V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.A172V	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	172	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAGAGAGTGCGCAGGACCCC	0.597													T	140346866	C	T	140346866	3	4	152	1	0	0	0	0	1	0	0	0	11533	768	27	1	517	1	PCDHAC2	5	140346866	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	38939	140346866	40568394	318	82135											
PCDHB4	56131	broad.mit.edu	37	chr5	140503476	140503476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggctgctgagcgagcgCgacgcagccaagcacaggct	15	14	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140503476C>T	uc003lip.1	+	1	1896	c.1896C>T	c.(1894-1896)CGC>CGT	p.R632R		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	632	Cadherin 6.|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)			TGAGCGAGCGCGACGCAGCCA	0.682													T	140503476	C	T	140503476	2	4	152	1	0	0	0	0	0	0	0	1	11544	755	27	1		1	PCDHB4	5	140503476	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	156610	140503476	40411784	319	82136											
PCDHB7	56129	broad.mit.edu	37	chr5	140553997	140553997	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacgaggccctgcaggcgttCgagttccgcgtgggcgccac	15	14	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140553997C>T	uc003lit.2	+	1	1755	c.1581C>T	c.(1579-1581)TTC>TTT	p.F527F		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	527	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGGCGTTCGAGTTCCGCG	0.701													T	140553997	C	T	140553997	2	4	152	1	0	0	0	0	0	0	0	1	11547	883	31	1		1	PCDHB7	5	140553997	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	50521	140553997	40361263	320	82137											
PCDHB10	56126	broad.mit.edu	37	chr5	140572677	140572677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccatattaacattagtggCggtgatgaaggcatgatata	10	5	0	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140572677C>T	uc003lix.2	+	1	726	c.552C>T	c.(550-552)GGC>GGT	p.G184G		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	184	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATTAGTGGCGGTGATGAAG	0.478													T	140572677	C	T	140572677	2	4	152	1	0	0	0	0	0	0	0	1	11535	755	27	1		1	PCDHB10	5	140572677	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	18680	140572677	40342583	321	82138											
PCDHB11	56125	broad.mit.edu	37	chr5	140580935	140580935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcaggctttcgacttcCgcgtgggcgccacagaccgc	12	17	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140580935C>T	uc003liy.2	+	1	1588	c.1588C>T	c.(1588-1590)CGC>TGC	p.R530C	PCDHB11_uc011daj.1_Missense_Mutation_p.R165C	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	530	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCGACTTCCGCGTGGGCGC	0.672													T	140580935	C	T	140580935	3	4	152	1	0	0	0	0	1	0	0	0	11536	652	23	1	1590	1	PCDHB11	5	140580935	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	8258	140580935	40334325	322	82139											
PCDHGA5	56110	broad.mit.edu	37	chr5	140744400	140744400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggtgtgaactctctccGgagttaccagctcagctcca	11	12	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140744400G>A	uc003lju.1	+	1	503	c.503G>A	c.(502-504)CGG>CAG	p.R168Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.R168Q	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	168	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTCTCTCCGGAGTTACCAG	0.512													A	140744400	G	A	140744400	3	1	152	1	0	0	0	0	1	0	0	0	11557	1116	39	1	505	1	PCDHGA5	5	140744400	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	163465	140744400	40170860	323	82140											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811605	140811605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacagtgaccgccactgacCggggaaccccgcccctatcc	9	19	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140811605C>T	uc003lkt.1	+	1	1448	c.1279C>T	c.(1279-1281)CGG>TGG	p.R427W	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.R427W	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	427	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCACTGACCGGGGAACCCC	0.502													T	140811605	C	T	140811605	3	4	152	1	0	0	0	0	1	0	0	0	11553	643	23	1	1281	1	PCDHGA12	5	140811605	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	67205	140811605	40103655	324	82141											
PCDHGC5	56097	broad.mit.edu	37	chr5	140857728	140857728	+	Frame_Shift_Del	DEL	C	C	-													cgagttcccctctggctctgCcccccgggagcagaaaaaaa							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140857727_140857727GC>G	uc003lkv.2	+	0	2159	c.2044_2044GC>G	c.(2044-2046)gccfs	p.A682fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Frame_Shift_Del_p.A682fs|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	682					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGGCTCTGCCCCCCGGGA	0.512											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	140857728	C	-	140857728	7	5	152	1	0	1	0	1	0	0	0	0	11571	739	26	0		0	PCDHGC5	5	140857728	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	46123	140857728	40057532	325	82142											
PCDHGC5	56097	broad.mit.edu	37	chr5	140890602	140890602	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagttcaccctgcagcaCgtgcccgactaccgccagaa	8	19	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140890602C>T	uc003lla.1	+	4	2697	c.2697C>T	c.(2695-2697)CAC>CAT	p.H899H	PCDHGA1_uc003lji.1_Silent_p.H886H|PCDHGA2_uc003ljk.1_Silent_p.H887H|PCDHGA3_uc003ljm.1_Silent_p.H887H|PCDHGA3_uc010jfx.1_Silent_p.H647H|PCDHGB1_uc003ljo.1_Silent_p.H882H|PCDHGA4_uc003ljq.1_Silent_p.H886H|PCDHGB2_uc003ljs.1_Silent_p.H886H|PCDHGA5_uc003lju.1_Silent_p.H886H|PCDHGB3_uc003ljw.1_Silent_p.H884H|PCDHGA6_uc003ljy.1_Silent_p.H887H|PCDHGA7_uc003lka.1_Silent_p.H887H|PCDHGB4_uc003lkc.1_Silent_p.H878H|PCDHGA8_uc003lkd.1_Silent_p.H887H|PCDHGB5_uc003lkf.1_Silent_p.H878H|PCDHGA9_uc003lkh.1_Silent_p.H887H|PCDHGB6_uc003lkj.1_Silent_p.H885H|PCDHGA10_uc003lkl.1_Silent_p.H891H|PCDHGB7_uc003lkn.1_Silent_p.H884H|PCDHGA11_uc003lkp.1_Silent_p.H705H|PCDHGA11_uc003lkq.1_Silent_p.H890H|PCDHGA12_uc003lkt.1_Silent_p.H887H|PCDHGC3_uc003lkv.1_Silent_p.H889H|PCDHGC3_uc003lkw.1_Silent_p.H89H|PCDHGC4_uc003lky.1_Silent_p.H893H	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	899	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTGCAGCACGTGCCCGACT	0.642													T	140890602	C	T	140890602	2	4	152	1	0	0	0	0	0	0	0	1	11571	535	19	1		1	PCDHGC5	5	140890602	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	32874	140890602	40024658	326	82143											
GNPDA1	10007	broad.mit.edu	37	chr5	141384531	141384531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacagtgcccacccccaccGtcaaggccatggtgggcacc	11	17	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:141384531G>A	uc003lmf.3	-	4	1319	c.560C>T	c.(559-561)ACG>ATG	p.T187M	GNPDA1_uc003lmg.3_Missense_Mutation_p.T187M|GNPDA1_uc010jgh.2_Missense_Mutation_p.T187M|GNPDA1_uc003lmh.3_Missense_Mutation_p.T153M	NM_005471	NP_005462	P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	187					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity				0		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCCCACCGTCAAGGCCAT	0.552													A	141384531	G	A	141384531	3	1	152	1	0	0	0	0	1	0	0	0	6542	1145	40	1	321	1	GNPDA1	5	141384531	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	493929	141384531	39530729	327	82144											
FGF1	2246	broad.mit.edu	37	chr5	141993589	141993589	+	Frame_Shift_Del	DEL	C	C	-													gaaggatcctcaggaagtggCccccgttgctacagtagagg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:141993588_141993588GC>G	uc003lmm.3	-	1	185	c.105_105GC>C	c.(103-105)ggcfs	p.G35fs	FGF1_uc011dbi.2_Frame_Shift_Del_p.G35fs|FGF1_uc003lmn.4_Frame_Shift_Del_p.G35fs|FGF1_uc003lmp.4_Frame_Shift_Del_p.G35fs|FGF1_uc003lmq.3_Frame_Shift_Del_p.G35fs|FGF1_uc010jgj.3_Frame_Shift_Del_p.G35fs|FGF1_uc003lmr.3_Frame_Shift_Del_p.G35fs|FGF1_uc003lms.4_Frame_Shift_Del_p.G35fs|FGF1_uc021yew.1_Frame_Shift_Del_p.G35fs	NM_001144892	NP_001138407	P05230	FGF1_HUMAN	Homo sapiens fibroblast growth factor 1 (acidic) (FGF1), transcript variant 4, mRNA.	35					angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	S100 alpha binding|fibroblast growth factor receptor binding|growth factor activity|heparin binding	p.G35D(1)		large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)	TCAGGAAGTGGCCCCCGTTGC	0.552													-	141993589	C	-	141993589	7	5	152	1	0	1	0	1	0	0	0	0	5838	739	26	0	375	0	FGF1	5	141993589	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	609058	141993589	38921671	328	82145											
CSF1R	1436	broad.mit.edu	37	chr5	149449434	149449434	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcgaaggctccctctcAcctgcagagatgggtatgaa	14	10	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:149449434A>G	uc003lrl.2	-	9	1705	c.1510_splice	c.e9+1	p.G504_splice	CSF1R_uc011dcd.1_Splice_Site_p.G356_splice|CSF1R_uc010jhc.2_Splice_Site|CSF1R_uc003lrm.2_Splice_Site_p.G504_splice	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor						cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	gcTCCCTCTCACCTGCAGAGA	0.383													G	149449434	A	G	149449434	5	3	152	1	0	0	0	0	0	0	1	0	3932	173	6	3	1458	3	CSF1R	5	149449434	Splice_Site	SNP	A	TCGA-CD-8536-01A-11D-2340-08	7455845	149449434	31465826	329	82146											
TCOF1	6949	broad.mit.edu	37	chr5	149767629	149767629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggatgaggacgtgatcccCgctacacagtgcttgactcc	12	12	0	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:149767629C>T	uc003lry.2	+	18	3132	c.3024C>T	c.(3022-3024)CCC>CCT	p.P1008P	TCOF1_uc011dch.1_Silent_p.P1008P|TCOF1_uc003lrz.2_Silent_p.P1008P|TCOF1_uc003lrx.2_Silent_p.P931P|TCOF1_uc003lsa.2_Silent_p.P931P|TCOF1_uc011dci.1_Silent_p.P437P	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1008					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGTGATCCCCGCTACACAGT	0.652													T	149767629	C	T	149767629	2	4	152	1	0	0	0	0	0	0	0	1	15705	639	23	1		1	TCOF1	5	149767629	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	318195	149767629	31147631	330	82147											
NDST1	3340	broad.mit.edu	37	chr5	149901260	149901260	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaagtatgtcaacctggaCgcctggaaccgggagctgct	12	12	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:149901260C>T	uc003lsk.3	+	2	946	c.444C>T	c.(442-444)GAC>GAT	p.D148D	NDST1_uc011dcj.1_Silent_p.D148D|NDST1_uc003lsl.2_Silent_p.D148D	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	148	Heparan sulfate N-deacetylase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAACCTGGACGCCTGGAACC	0.587													T	149901260	C	T	149901260	2	4	152	1	0	0	0	0	0	0	0	1	10255	535	19	1		1	NDST1	5	149901260	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	133631	149901260	31014000	331	82148											
TIMD4	91937	broad.mit.edu	37	chr5	156381647	156381647	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctccttgcaaccggagtagGggcactggtctttcccccag	11	15	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:156381647G>T	uc003lwh.2	-	2	236	c.179C>A	c.(178-180)CCC>CAC	p.P60H	TIMD4_uc010jii.2_Missense_Mutation_p.P60H	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain	60	Ig-like V-type.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCGGAGTAGGGGCACTGGTC	0.542													T	156381647	G	T	156381647	3	4	152	1	0	0	0	0	1	0	0	0	15900	1232	43	5	989	5	TIMD4	5	156381647	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	6480387	156381647	24533613	332	82149											
UNC5A	90249	broad.mit.edu	37	chr5	176304559	176304559	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccctagctggctgtcagaCcctgctgagtcccatcgtta	10	15	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:176304559C>A	uc003mey.2	+	10	1682	c.1490C>A	c.(1489-1491)ACC>AAC	p.T497N		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	497	ZU5.|Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCTGTCAGACCCTGCTGAGT	0.637													A	176304559	C	A	176304559	3	1	152	1	0	0	0	0	1	0	0	0	16988	507	18	5	1528	5	UNC5A	5	176304559	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	19922912	176304559	4610701	333	82150											
NSD1	64324	broad.mit.edu	37	chr5	176665443	176665443	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagctgaccttgtctgtgcCtgtggctccggaagtctctc	12	13	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:176665443C>A	uc003mfr.3	+	7	4265	c.4127C>A	c.(4126-4128)CCT>CAT	p.P1376H	NSD1_uc003mft.3_Missense_Mutation_p.P1107H|NSD1_uc003mfs.1_Missense_Mutation_p.P1273H|NSD1_uc011dfx.1_Missense_Mutation_p.P1024H	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1376					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTGTCTGTGCCTGTGGCTCCG	0.557			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			A	176665443	C	A	176665443	3	1	152	1	0	0	0	0	1	0	0	0	10669	681	24	5	4149	5	NSD1	5	176665443	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	360884	176665443	4249817	334	82151											
TBC1D9B	23061	broad.mit.edu	37	chr5	179306714	179306716	+	In_Frame_Del	DEL	AGA	AGA	-													ggttggcgcctcctgcgcacAgaagctctggcggctgctga							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:179306713_179306715CAGA>C	uc003mlh.3	-	7	1364_1366	c.1329_1331TCTG>G	c.(1327-1332)ttctgt>ttGt	p.443_444FC>L	TBC1D9B_uc003mli.3_In_Frame_Del_p.443_444FC>L|TBC1D9B_uc003mlj.3_In_Frame_Del_p.443_444FC>L	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	443						integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCTGCGCACAGAAGCTCTGGC	0.64													-	179306716	AGA	-	179306714	7	5	152	1	0	1	0	1	0	0	0	0	15625	188	7	0	2482	0	TBC1D9B	5	179306714	In_Frame_Del	DEL	AGA	TCGA-CD-8536-01A-11D-2340-08	2641271	179306714	1608546	335	82152											
MGAT1	4245	broad.mit.edu	37	chr5	180219262	180219262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcattccaggccgagacgCaccacagggaggggtcggcc	15	13	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:180219262C>T	uc003mmg.3	-	2	1205	c.710G>A	c.(709-711)TGC>TAC	p.C237Y	MGAT1_uc010jlf.2_Missense_Mutation_p.C237Y|MGAT1_uc010jlg.2_Missense_Mutation_p.C237Y|MGAT1_uc003mmh.3_Missense_Mutation_p.C237Y|MGAT1_uc010jlh.2_Missense_Mutation_p.C237Y|MGAT1_uc003mmi.3_Missense_Mutation_p.C237Y	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	237	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(1)	1	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCGAGACGCACCACAGGGA	0.652													T	180219262	C	T	180219262	3	4	152	1	0	0	0	0	1	0	0	0	9542	710	25	2	631	2	MGAT1	5	180219262	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	912548	180219262	695998	336	82153											
SLC22A23	63027	broad.mit.edu	37	chr6	3273438	3273438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcggcagcagcggctggcGcgtgtagtgctccccgttag	17	12	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:3273438G>A	uc003mvm.3	-	10	1912	c.1912C>T	c.(1912-1914)CGC>TGC	p.R638C	uc003mvi.1_Intron|SLC22A23_uc003mvn.3_Missense_Mutation_p.R357C|SLC22A23_uc003mvo.3_Missense_Mutation_p.R357C|SLC22A23_uc003mvp.1_RNA	NM_015482	NP_056297	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23 isoform a	638					ion transport	integral to membrane	transmembrane transporter activity			ovary(1)	1	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				AGCGGCTGGCGCGTGTAGTGC	0.607													A	3273438	G	A	3273438	3	1	152	1	0	0	0	0	1	0	0	0	14452	1087	38	1	152	1	SLC22A23	6	3273438	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08		3273438	167841629	337	82154											
RREB1	6239	broad.mit.edu	37	chr6	7229883	7229883	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctggtcacaccacggacGgtggtggccacctccacgcc	11	19	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:7229883G>A	uc003mxc.2	+	10	1941	c.1551G>A	c.(1549-1551)ACG>ACA	p.T517T	RREB1_uc003mxb.2_Silent_p.T517T|RREB1_uc010jnx.2_Silent_p.T517T	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	517	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CACCACGGACGGTGGTGGCCA	0.677													A	7229883	G	A	7229883	2	1	152	1	0	0	0	0	0	0	0	1	13679	1103	39	1		1	RREB1	6	7229883	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	3956445	7229883	163885184	338	82155											
GCNT2	2651	broad.mit.edu	37	chr6	10529736	10529736	+	Frame_Shift_Del	DEL	A	A	-													gcgggcaagactttcccctgAaaaccaacagggaaatagtt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:10529735_10529735GA>G	uc010joo.3	+	2	1142	c.591_591GA>G	c.(589-591)ctgfs	p.L197fs	GCNT2_uc010jol.3_Intron|GCNT2_uc010jom.3_Intron|GCNT2_uc010jop.3_Intron|GCNT2_uc003mza.3_Intron|GCNT2_uc003mzc.4_Frame_Shift_Del_p.L196fs	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) (GCNT2), transcript variant 1, mRNA.	197						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		ACTTTCCCCTGAAAACCAACA	0.512													-	10529736	A	-	10529736	7	5	152	1	0	1	0	1	0	0	0	0	6301	247	9	0	594	0	GCNT2	6	10529736	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	3299853	10529736	160585331	339	82156											
JARID2	3720	broad.mit.edu	37	chr6	15496722	15496722	+	Frame_Shift_Del	DEL	G	G	-													aagtcatgcactaaggaggtGggggggcggcagctgcggga							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:15496721_15496721TG>T	uc003nbj.3	+	6	1509	c.1265_1265TG>T	c.(1264-1266)gtgfs	p.V422fs	JARID2_uc011diu.1_Frame_Shift_Del_p.V286fs|JARID2_uc011div.2_Frame_Shift_Del_p.V250fs|JARID2_uc011diw.1_Frame_Shift_Del_p.V384fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	422					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ACTAAGGAGGTGGGGGGGCGG	0.667													-	15496722	G	-	15496722	7	5	152	1	0	1	0	1	0	0	0	0	7945	1335	47	0	1292	0	JARID2	6	15496722	Frame_Shift_Del	DEL	G	TCGA-CD-8536-01A-11D-2340-08	4966986	15496722	155618345	340	82157											
ATXN1	6310	broad.mit.edu	37	chr6	16327740	16327740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgggggtggaggtggaCggggatggccggaggagagg	26	4	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:16327740C>T	uc003nbt.2	-	8	1773	c.802G>A	c.(802-804)GTC>ATC	p.V268I	ATXN1_uc010jpi.2_Missense_Mutation_p.V268I|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	268					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TGGAGGTGGACGGGGATGGCC	0.672													T	16327740	C	T	16327740	3	4	152	1	0	0	0	0	1	0	0	0	1209	536	19	1	1653	1	ATXN1	6	16327740	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	831018	16327740	154787327	341	82158											
SLC17A2	10246	broad.mit.edu	37	chr6	25923979	25923979	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attgaaggcatctgcaacagGcccctcagtggaggcattag	12	10	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:25923979G>C	uc011dkb.1	-	2	267	c.184C>G	c.(184-186)CCT>GCT	p.P62A	SLC17A2_uc011dkc.1_Missense_Mutation_p.P62A|SLC17A2_uc003nfl.2_Missense_Mutation_p.P62A			O00624	NPT3_HUMAN	SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;	62					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			ovary(1)	1						TCTGCAACAGGCCCCTCAGTG	0.453													C	25923979	G	C	25923979	3	2	152	1	0	0	0	0	1	0	0	0	14417	1203	42	5	1162	5	SLC17A2	6	25923979	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	9596239	25923979	145191088	342	82159											
HIST1H2AG	8969	broad.mit.edu	37	chr6	27100889	27100889	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagggaggcaaagcccgcgcTaaggccaagactcgctcttc	12	14	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:27100889T>A	uc003niw.2	+	1	73	c.39T>A	c.(37-39)GCT>GCA	p.A13A	HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	13					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding				0						AAGCCCGCGCTAAGGCCAAGA	0.617													A	27100889	T	A	27100889	2	1	152	1	0	0	0	0	0	0	0	1	7133	1509	53	5		5	HIST1H2AG	6	27100889	Silent	SNP	T	TCGA-CD-8536-01A-11D-2340-08	1176910	27100889	144014178	343	82160											
ZKSCAN3	80317	broad.mit.edu	37	chr6	28333983	28333983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctatcagtgtaatgcgtGtggaaaaggcttcacccgaa	10	10	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:28333983G>A	uc003nle.3	+	6	1754	c.1538G>A	c.(1537-1539)TGT>TAT	p.C513Y	ZKSCAN3_uc010jrc.2_Missense_Mutation_p.C513Y|ZKSCAN3_uc003nlf.3_Missense_Mutation_p.C365Y|uc010jrd.2_5'Flank	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	513	C2H2-type 7.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						TGTAATGCGTGTGGAAAAGGC	0.413													A	28333983	G	A	28333983	3	1	152	1	0	0	0	0	1	0	0	0	17685	1377	48	4	1556	4	ZKSCAN3	6	28333983	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1233094	28333983	142781084	344	82161											
OR2J3	442186	broad.mit.edu	37	chr6	29080437	29080437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtatctctctttttcattcCggccatgtgcatgtatctcc	6	12	4	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:29080437C>T	uc011dll.1	+	1	770	c.770C>T	c.(769-771)CCG>CTG	p.P257L		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J,	257	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTTTTCATTCCGGCCATGTGC	0.453													T	29080437	C	T	29080437	3	4	152	1	0	0	0	0	1	0	0	0	11004	652	23	1	772	1	OR2J3	6	29080437	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	746454	29080437	142034630	345	82162											
HLA-A	3105	broad.mit.edu	37	chr6	29910372	29910373	+	Frame_Shift_Ins	INS	-	-	G													ccctcctcctgctactctcgINSggggccctggccctgaccca					rs2230954	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:29910371_29910372C>CG	uc003nol.3	+	0	125_126	c.41_42C>CG	c.(40-42)tcgfs	p.S14fs	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_Intron|HLA-A_uc021ytz.1_Frame_Shift_Ins_p.S14fs|HLA-A_uc010jrq.3_5'UTR|HLA-A_uc003nok.3_5'UTR|HLA-A_uc021yua.1_Frame_Shift_Ins_p.S14fs|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.2_5'Flank|HLA-A_uc011dmd.2_5'Flank|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	14					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CTGCTACTCTCGGGGGCCCTGG	0.708									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			G	29910373	-	G	29910372	7	5	152	1	0	1	1	0	0	0	0	0	7195	1103	39	0	44	0	HLA-A	6	29910372	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	829935	29910372	141204695	346	82163											
TRIM39	56658	broad.mit.edu	37	chr6	30308096	30308096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctcaacgatctgtccacGggatcataaggctctccttg	8	13	4	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:30308096G>A	uc010jrz.2	+	7	1163	c.851G>A	c.(850-852)CGG>CAG	p.R284Q	TRIM39_uc003npz.2_Intron|TRIM39_uc003nqb.2_Intron|TRIM39_uc003nqc.2_Intron|TRIM39_uc010jsa.1_Intron	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN	tripartite motif-containing 39 isoform 1	284					apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding			ovary(3)	3						ATCTGTCCACGGGATCATAAG	0.453													A	30308096	G	A	30308096	3	1	152	1	0	0	0	0	1	0	0	0	16510	1116	39	1	869	1	TRIM39	6	30308096	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	397724	30308096	140806971	347	82164											
KIAA1949	170954	broad.mit.edu	37	chr6	30653307	30653307	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcctccagaggcctcagGctcaactcttgggctccccc	10	18	3	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:30653307G>A	uc003nra.2	-	2	720	c.489C>T	c.(487-489)AGC>AGT	p.S163S	KIAA1949_uc003nrb.3_Silent_p.S163S	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN	phostensin	163						cytoplasm|cytoskeleton	actin binding				0						GAGGCCTCAGGCTCAACTCTT	0.607													A	30653307	G	A	30653307	2	1	152	1	0	0	0	0	0	0	0	1	8263	1194	42	2		2	KIAA1949	6	30653307	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	345211	30653307	140461760	348	82165											
MUC21	394263	broad.mit.edu	37	chr6	30955053	30955053	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accaactctgggtccagcacGacctccagtgggaccagcac	10	16	1	0	rs9262386		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:30955053G>A	uc003nsh.2	+	2	1352	c.1101G>A	c.(1099-1101)ACG>ACA	p.T367T	MUC21_uc003nsi.1_RNA	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	mucin 21 precursor	367	23.|Ser-rich.|28 X 15 AA approximate tandem repeats.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|skin(1)	2						GGTCCAGCACGACCTCCAGTG	0.637													A	30955053	G	A	30955053	2	1	152	1	0	0	0	0	0	0	0	1	9977	1045	37	1		1	MUC21	6	30955053	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	301746	30955053	140160014	349	82166											
NEU1	4758	broad.mit.edu	37	chr6	31829888	31829888	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggagtggctgtgatgagCgggatgcggaaggtgtccac	19	8	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:31829888C>T	uc003nxq.3	-	2	396	c.240G>A	c.(238-240)CCG>CCA	p.P80P	NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_RNA|NEU1_uc010jth.2_Intron|NEU1_uc003nxs.3_Silent_p.P80P	NM_000434	NP_000425	Q99519	NEUR1_HUMAN	neuraminidase precursor	80	FRIP motif.		P -> L (in SIALIDOSIS; type 2; no enzyme activity; retained in the endoplasmic reticulum / Golgi or rapidly degraded in the lysosomes).			cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			ovary(1)	1					Oseltamivir(DB00198)|Zanamivir(DB00558)	CTGTGATGAGCGGGATGCGGA	0.622													T	31829888	C	T	31829888	2	4	152	1	0	0	0	0	0	0	0	1	10341	755	27	1		1	NEU1	6	31829888	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	874835	31829888	139285179	350	82167											
EHMT2	10919	broad.mit.edu	37	chr6	31857273	31857284	+	In_Frame_Del	DEL	TCTTCCTCTTCT	TCTTCCTCTTCT	-													actgattccctgactcctcaTcttcctcttcttcttcctct							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:31857272_31857283ATCTTCCTCTTCT>A	uc003nxz.1	-	7	971_982	c.961_972AGAAGAGGAAGAT>T	c.(961-972)gaagaggaagat>T	p.EEED321del	EHMT2_uc003nxy.1_In_Frame_Del_p.EEED112del|EHMT2_uc011don.1_In_Frame_Del_p.EEED378del|EHMT2_uc003nya.1_In_Frame_Del_p.EEED321del	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	321	Poly-Glu.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CTGActcctcatcttcctcttcttcttcctct	0.505													-	31857284	TCTTCCTCTTCT	-	31857273	7	5	152	1	0	1	0	1	0	0	0	0	4984	1435	50	0	2745	0	EHMT2	6	31857273	In_Frame_Del	DEL	TCTTCCTCTTCT	TCGA-CD-8536-01A-11D-2340-08	27385	31857273	139257794	351	82168											
RNF5	6048	broad.mit.edu	37	chr6	32146318	32146318	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcggaggaggaggacgggggCcccgaagggccaaatcgcga	20	10	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:32146318C>G	uc003oaj.3	+	1	157	c.30C>G	c.(28-30)GGC>GGG	p.G10G	AGPAT1_uc003oae.2_5'Flank|AGPAT1_uc011dpk.1_5'Flank|AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank|AGPAT1_uc003oai.1_5'Flank|AGPAT1_uc011dpl.1_5'Flank	NM_006913	NP_008844	Q99942	RNF5_HUMAN	ring finger protein 5	10					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						AGGACGGGGGCCCCGAAGGGC	0.617													G	32146318	C	G	32146318	2	3	152	1	0	0	0	0	0	0	0	1	13497	726	26	5		5	RNF5	6	32146318	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	289045	32146318	138968749	352	82169											
PSMB8	5696	broad.mit.edu	37	chr6	32810002	32810002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagcagcttggaggctgccGacactgaaatacgttctcca	10	12	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:32810002G>A	uc003oce.2	-	4	489	c.446C>T	c.(445-447)TCG>TTG	p.S149L	PSMB8_uc003ocf.2_Missense_Mutation_p.S145L|PSMB8_uc011dqh.1_3'UTR	NM_148919	NP_683720	P28062	PSB8_HUMAN	proteasome beta 8 subunit isoform E2 proprotein	149					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			skin(1)	1						GGAGGCTGCCGACACTGAAAT	0.537													A	32810002	G	A	32810002	3	1	152	1	0	0	0	0	1	0	0	0	12683	1059	37	1	396	1	PSMB8	6	32810002	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	663684	32810002	138305065	353	82170											
COL11A2	1302	broad.mit.edu	37	chr6	33146860	33146860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcactcacccttcgcccaGccttgccaggagggcctgtg	13	16	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:33146860G>A	uc003ocx.1	-	16	1829	c.1601C>T	c.(1600-1602)GCT>GTT	p.A534V	COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Missense_Mutation_p.A448V|COL11A2_uc003ocz.1_Missense_Mutation_p.A427V	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	534	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						CCTTCGCCCAGCCTTGCCAGG	0.657													A	33146860	G	A	33146860	3	1	152	1	0	0	0	0	1	0	0	0	3668	971	34	2	3813	2	COL11A2	6	33146860	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	336858	33146860	137968207	354	82171											
DAXX	1616	broad.mit.edu	37	chr6	33287513	33287513	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgacagtaacgatggtgaCactatgcgtcctttgttttg	10	8	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:33287513C>T	uc003oec.2	-	6	1788	c.1584G>A	c.(1582-1584)GTG>GTA	p.V528V	ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Silent_p.V453V|DAXX_uc011dre.1_Silent_p.V540V|DAXX_uc003oed.2_Silent_p.V528V	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	528	Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						ACGATGGTGACACTATGCGTC	0.522			Mis|F|N		Pancreatic neuroendocrine tumors								T	33287513	C	T	33287513	2	4	152	1	0	0	0	0	0	0	0	1	4243	465	17	4		4	DAXX	6	33287513	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	140653	33287513	137827554	355	82172											
DAXX	1616	broad.mit.edu	37	chr6	33289522	33289522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacagcttctcattctccaGcttgtagcatttcttgccgc	7	13	3	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:33289522G>A	uc003oec.2	-	2	385	c.181C>T	c.(181-183)CTG>TTG	p.L61L	DAXX_uc011drd.1_Intron|DAXX_uc011dre.1_Silent_p.L73L|DAXX_uc003oed.2_Silent_p.L61L|DAXX_uc010juw.2_5'UTR	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	61	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						TCATTCTCCAGCTTGTAGCAT	0.527			Mis|F|N		Pancreatic neuroendocrine tumors								A	33289522	G	A	33289522	2	1	152	1	0	0	0	0	0	0	0	1	4243	962	34	2		2	DAXX	6	33289522	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2009	33289522	137825545	356	82173											
ZNF76	7629	broad.mit.edu	37	chr6	35254165	35254165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatggcttacatacaccGcacacccagaggtagggtca	10	13	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:35254165G>A	uc003oki.1	+	4	426	c.221G>A	c.(220-222)CGC>CAC	p.R74H	ZNF76_uc011dsy.1_Missense_Mutation_p.R74H|ZNF76_uc011dsz.1_Missense_Mutation_p.R74H|ZNF76_uc003okj.1_Missense_Mutation_p.R74H|ZNF76_uc011dsx.1_Missense_Mutation_p.R74H	NM_003427	NP_003418	P36508	ZNF76_HUMAN	zinc finger protein 76 (expressed in testis)	74	3 X 12 AA approximate repeats.				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TACATACACCGCACACCCAGA	0.572													A	35254165	G	A	35254165	3	1	152	1	0	0	0	0	1	0	0	0	18132	1087	38	1	231	1	ZNF76	6	35254165	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1964643	35254165	135860902	357	82174											
CPNE5	57699	broad.mit.edu	37	chr6	36710055	36710055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaccaggttcagatgtgcGtgtgcaggggggacgcaggg	20	7	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:36710055G>A	uc003omr.1	-	21	1839	c.1772C>T	c.(1771-1773)ACG>ATG	p.T591M	CPNE5_uc003omp.1_Missense_Mutation_p.T299M|CPNE5_uc010jwn.1_Missense_Mutation_p.T241M|CPNE5_uc003omq.1_Missense_Mutation_p.T241M	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	copine V	591										skin(1)	1						TCAGATGTGCGTGTGCAGGGG	0.706													A	36710055	G	A	36710055	3	1	152	1	0	0	0	0	1	0	0	0	3815	1145	40	1	13	1	CPNE5	6	36710055	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1455890	36710055	134405012	358	82175											
DNAH8	1769	broad.mit.edu	37	chr6	38697695	38697696	+	Frame_Shift_Ins	INS	-	-	T													agctggaagcatttactaatINSttttttgcgaaagatggttg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:38697694_38697695A>AT	uc021yzh.1	+	3	651_652	c.542_543A>AT	c.(541-543)aatfs	p.N181fs	DNAH8_uc003ooe.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCATTTACTAATTTTTTTGCGA	0.337													T	38697696	-	T	38697695	7	5	152	1	0	1	1	0	0	0	0	0	4607	1508	52	0		0	DNAH8	6	38697695	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	1987640	38697695	132417372	359	82176											
C6orf130	221443	broad.mit.edu	37	chr6	41038939	41038939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctatcccagcgcccatgCgacaatcctcactgatacag	7	16	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:41038939C>T	uc003opm.2	-	3	288	c.116G>A	c.(115-117)CGC>CAC	p.R39H	UNC5CL_uc010jxe.1_5'UTR|C6orf130_uc010jxg.2_Missense_Mutation_p.R39H|C6orf130_uc003opn.2_Missense_Mutation_p.R39H|C6orf130_uc010jxh.1_Missense_Mutation_p.R39H|NFYA_uc003opo.2_5'Flank|NFYA_uc003opp.2_5'Flank|NFYA_uc003opq.2_5'Flank	NM_145063	NP_659500	Q9Y530	CF130_HUMAN	hypothetical protein LOC221443	39	Macro.										0	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCGCCCATGCGACAATCCTC	0.428													T	41038939	C	T	41038939	3	4	152	1	0	0	0	0	1	0	0	0	2329	768	27	1	358	1	C6orf130	6	41038939	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	2341244	41038939	130076128	360	82177											
MRPL2	51069	broad.mit.edu	37	chr6	43023356	43023356	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagtagcacaccacacgtcCctggggaaagaagctgattt	11	11	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:43023356C>A	uc003ots.1	-	6	755	c.632G>T	c.(631-633)GGG>GTG	p.G211V	CUL7_uc011dvb.1_5'Flank|CUL7_uc003otq.2_5'Flank|CUL7_uc010jyh.2_5'Flank|KLC4_uc003otr.1_Intron	NM_015950	NP_057034	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2 precursor	211					translation	mitochondrion|ribosome	structural constituent of ribosome				0		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		ACCACACGTCCCTGGGGAAAG	0.557													A	43023356	C	A	43023356	3	1	152	1	0	0	0	0	1	0	0	0	9785	637	22	5	293	5	MRPL2	6	43023356	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1984417	43023356	128091711	361	82178											
TTBK1	84630	broad.mit.edu	37	chr6	43251421	43251421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgagcgcccctggagaaCggcctcgccctgtcagggct	14	17	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:43251421C>T	uc003ouq.1	+	14	3222	c.2943C>T	c.(2941-2943)AAC>AAT	p.N981N		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	981						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCCTGGAGAACGGCCTCGCCC	0.687													T	43251421	C	T	43251421	2	4	152	1	0	0	0	0	0	0	0	1	16673	535	19	1		1	TTBK1	6	43251421	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	228065	43251421	127863646	362	82179											
ZNF318	24149	broad.mit.edu	37	chr6	43309880	43309880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagttatcttgtcagtgcGctttatggcatcttgcttgg	10	8	3	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:43309880G>A	uc003oux.2	-	8	3424	c.3346C>T	c.(3346-3348)CGC>TGC	p.R1116C	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1116					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTGTCAGTGCGCTTTATGGCA	0.463													A	43309880	G	A	43309880	3	1	152	1	0	0	0	0	1	0	0	0	17833	1087	38	1	3505	1	ZNF318	6	43309880	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	58459	43309880	127805187	363	82180											
ABCC10	89845	broad.mit.edu	37	chr6	43415470	43415470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtggagttccaggacgtgGtgttggcgtaccggccaggg	19	9	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:43415470G>A	uc003ouy.1	+	18	3969	c.3754G>A	c.(3754-3756)GTG>ATG	p.V1252M	ABCC10_uc003ouz.1_Missense_Mutation_p.V1224M|ABCC10_uc010jyo.1_Missense_Mutation_p.V358M	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	1252	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCAGGACGTGGTGTTGGCGTA	0.667													A	43415470	G	A	43415470	3	1	152	1	0	0	0	0	1	0	0	0	50	1261	44	4	3732	4	ABCC10	6	43415470	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	105590	43415470	127699597	364	82181											
XPO5	57510	broad.mit.edu	37	chr6	43516071	43516071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taggaacaccttctgacgctCgtagttcttaaattggttgc	9	9	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:43516071C>T	uc003ovp.2	-	18	2198	c.1987G>A	c.(1987-1989)GAG>AAG	p.E663K		NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	663					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TTCTGACGCTCGTAGTTCTTA	0.502													T	43516071	C	T	43516071	3	4	152	1	0	0	0	0	1	0	0	0	17444	893	31	1	1687	1	XPO5	6	43516071	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	100601	43516071	127598996	365	82182											
TMEM63B	55362	broad.mit.edu	37	chr6	44114623	44114623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagttctcgaagcccgcccGtgttacaacgtggctcgcct	10	15	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:44114623G>A	uc003owr.2	+	11	886	c.822G>A	c.(820-822)CCG>CCA	p.P274P	TMEM63B_uc003owq.1_Silent_p.P274P|TMEM63B_uc003ows.2_Silent_p.P177P|TMEM63B_uc010jyz.2_RNA	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	274						integral to membrane	nucleotide binding|protein binding	p.P274P(1)		pancreas(2)|central_nervous_system(1)	3	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			AAGCCCGCCCGTGTTACAACG	0.582													A	44114623	G	A	44114623	2	1	152	1	0	0	0	0	0	0	0	1	16188	1132	40	1		1	TMEM63B	6	44114623	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	598552	44114623	127000444	366	82183											
MCM3	4172	broad.mit.edu	37	chr6	52132745	52132745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctcacttcgcttcttacGtttcttctccttctccagaa	3	15	5	1	rs143308289	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:52132745G>A	uc003pan.1	-	14	2100	c.1990C>T	c.(1990-1992)CGT>TGT	p.R664C	MCM3_uc011dwu.1_Missense_Mutation_p.R618C	NM_002388	NP_002379	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	664					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)|lung(1)|skin(1)	3	Lung NSC(77;0.0931)					cgcttcttacgtttcttctcc	0.274													A	52132745	G	A	52132745	3	1	152	1	0	0	0	0	1	0	0	0	9387	1145	40	1	452	1	MCM3	6	52132745	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	8018122	52132745	118982322	367	82184											
TRAM2	9697	broad.mit.edu	37	chr6	52369431	52369431	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctggtagtctgggtgtggCtgggactctccgctttgcac	16	10	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:52369431C>A	uc003paq.2	-	10	1146	c.997G>T	c.(997-999)GCC>TCC	p.A333S	EFHC1_uc011dwv.1_Intron	NM_012288	NP_036420	Q15035	TRAM2_HUMAN	translocation-associated membrane protein 2	333					collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding				0	Lung NSC(77;0.109)					CTGGGTGTGGCTGGGACTCTC	0.622													A	52369431	C	A	52369431	3	1	152	1	0	0	0	0	1	0	0	0	16450	797	28	5	123	5	TRAM2	6	52369431	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	236686	52369431	118745636	368	82185											
PHF3	23469	broad.mit.edu	37	chr6	64415953	64415953	+	Frame_Shift_Del	DEL	A	A	-													cctgtagatgatctttctccAaaaaaagtaaaagttgttgt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:64415953delA	uc003pep.1	+	11	3428	c.3402delA	c.(3400-3402)CCAfs	p.P1134fs	PHF3_uc010kah.1_Frame_Shift_Del_p.P948fs|PHF3_uc003pen.2_Frame_Shift_Del_p.P1046fs|PHF3_uc011dxs.1_Frame_Shift_Del_p.P403fs	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1134					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATCTTTCTCCAAAAAAAGTAA	0.358													-	64415953	A	-	64415953	7	5	152	1	0	1	0	1	0	0	0	0	11836	117	5	0	3444	0	PHF3	6	64415953	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	12046522	64415953	106699114	369	82186											
FILIP1	27145	broad.mit.edu	37	chr6	76124559	76124559	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgacatcatcctccttccTatttgatttcttcttctttt	2	12	4	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:76124559T>C	uc003pia.2	-	2	503	c.130A>G	c.(130-132)AGG>GGG	p.R44G	FILIP1_uc003phy.1_Missense_Mutation_p.R44G|FILIP1_uc010kbe.2_Missense_Mutation_p.R47G	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	44										skin(3)|ovary(1)	4						TCCTCCTTCCTATTTGATTTC	0.428													C	76124559	T	C	76124559	3	2	152	1	0	0	0	0	1	0	0	0	5894	1521	53	3	3531	3	FILIP1	6	76124559	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	11708606	76124559	94990508	370	82187											
ZNF292	23036	broad.mit.edu	37	chr6	87966657	87966657	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattcagctgccaggtcgagGgatgtactcgaacctataat	10	9	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:87966657G>T	uc003plm.3	+	8	3351	c.3310G>T	c.(3310-3312)GGA>TGA	p.G1104*		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1104	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCAGGTCGAGGGATGTACTCG	0.438													T	87966657	G	T	87966657	4	4	152	1	0	0	0	0	0	1	0	0	17823	1233	43	5	3340	5	ZNF292	6	87966657	Nonsense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	11842098	87966657	83148410	371	82188											
CNR1	1268	broad.mit.edu	37	chr6	88854062	88854062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgctcttctgggtgccaCgctgaatcatgcggacggcg	14	11	3	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:88854062C>T	uc011dzq.1	-	2	4495	c.932G>A	c.(931-933)CGT>CAT	p.R311H	CNR1_uc010kbz.2_Missense_Mutation_p.R311H|CNR1_uc011dzr.1_Missense_Mutation_p.R311H|CNR1_uc011dzs.1_Missense_Mutation_p.R311H|CNR1_uc003pmq.3_Missense_Mutation_p.R311H|CNR1_uc011dzt.1_Missense_Mutation_p.R311H|CNR1_uc010kca.2_Missense_Mutation_p.R278H	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	311	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CTGGGTGCCACGCTGAATCAT	0.552													T	88854062	C	T	88854062	3	4	152	1	0	0	0	0	1	0	0	0	3631	536	19	1	490	1	CNR1	6	88854062	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	887405	88854062	82261005	372	82189											
ANKRD6	22881	broad.mit.edu	37	chr6	90337306	90337306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacttcactcctagatgcGtgttttggacaagctgatgg	10	10	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:90337306G>A	uc003pni.3	+	14	1717	c.1376G>A	c.(1375-1377)CGT>CAT	p.R459H	ANKRD6_uc003pne.3_Missense_Mutation_p.R459H|ANKRD6_uc003pnf.3_Missense_Mutation_p.R424H|ANKRD6_uc011dzy.1_Missense_Mutation_p.R459H|ANKRD6_uc010kcd.2_Missense_Mutation_p.R400H|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_Missense_Mutation_p.R55H|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.3_Missense_Mutation_p.R55H	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	459							protein binding			ovary(2)|pancreas(1)	3		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		TCCTAGATGCGTGTTTTGGAC	0.557													A	90337306	G	A	90337306	3	1	152	1	0	0	0	0	1	0	0	0	685	1145	40	1	1426	1	ANKRD6	6	90337306	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1483244	90337306	80777761	373	82190											
POU3F2	5454	broad.mit.edu	37	chr6	99282792	99282792	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actacagcctgctcacctccAgcgcctccatcgtgcacgcc	7	20	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:99282792A>G	uc003ppe.2	+	1	213	c.43A>G	c.(43-45)AGC>GGC	p.S15G		NM_005604	NP_005595	P20265	PO3F2_HUMAN	POU domain, class 3, transcription factor 2	15					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GCTCACCTCCAGCGCCTCCAT	0.677													G	99282792	A	G	99282792	3	3	152	1	0	0	0	0	1	0	0	0	12275	188	7	3	45	3	POU3F2	6	99282792	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	8945486	99282792	71832275	374	82191											
ASCC3	10973	broad.mit.edu	37	chr6	101166009	101166009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtactggtcgaaaacggCcatcaaagaagaaaagtcca	11	8	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:101166009C>T	uc003pqk.2	-	12	2350	c.2021G>A	c.(2020-2022)GGC>GAC	p.G674D	ASCC3_uc011eai.1_Missense_Mutation_p.G576D|ASCC3_uc003pql.2_Missense_Mutation_p.G674D	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TCGAAAACGGCCATCAAAGAA	0.343													T	101166009	C	T	101166009	3	4	152	1	0	0	0	0	1	0	0	0	1033	739	26	2	4711	2	ASCC3	6	101166009	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1883217	101166009	69949058	375	82192											
AIM1	202	broad.mit.edu	37	chr6	106968176	106968176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggcccacaagtcataccGccagcatcagagaaaactct	7	14	4	1	rs150468985	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:106968176G>A	uc003prh.2	+	2	2356	c.1869G>A	c.(1867-1869)CCG>CCA	p.P623P		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	623							sugar binding			breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AAGTCATACCGCCAGCATCAG	0.547													A	106968176	G	A	106968176	2	1	152	1	0	0	0	0	0	0	0	1	430	1074	38	1		1	AIM1	6	106968176	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	5802167	106968176	64146891	376	82193											
BEND3	57673	broad.mit.edu	37	chr6	107391602	107391602	+	Frame_Shift_Del	DEL	C	C	-													cagcaagcggcaggccaggtCcccccctgacaggctctggt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:107391601_107391601TC>T	uc003prs.2	-	4	1444	c.794_794GA>A	c.(793-795)gacfs	p.D265fs		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	265	BEN 1.							p.D265fs*54(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GCAGGCCAGGTCCCCCCCTGA	0.652													-	107391602	C	-	107391602	7	5	152	1	0	1	0	1	0	0	0	0	1399	855	30	0	1697	0	BEND3	6	107391602	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	423426	107391602	63723465	377	82194											
CDC40	51362	broad.mit.edu	37	chr6	110540978	110540978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaattgtgcaggaatatgatCggcatttgggagctgtcaac	12	6	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:110540978C>T	uc003pua.2	+	12	1270	c.1246C>T	c.(1246-1248)CGG>TGG	p.R416W		NM_015891	NP_056975	O60508	PRP17_HUMAN	cell division cycle 40 homolog	416	WD 4.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm					0		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		GGAATATGATCGGCATTTGGG	0.403													T	110540978	C	T	110540978	3	4	152	1	0	0	0	0	1	0	0	0	3070	875	31	1	1292	1	CDC40	6	110540978	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	3149376	110540978	60574089	378	82195											
REV3L	5980	broad.mit.edu	37	chr6	111643876	111643876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttgtgaacaatactatcGccaacctgttggtacaaaca	7	10	0	1	rs145957765		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:111643876G>A	uc003puy.3	-	26	8570	c.8247C>T	c.(8245-8247)GGC>GGT	p.G2749G	REV3L_uc003pux.3_Silent_p.G2671G|REV3L_uc003puz.3_Silent_p.G2671G|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2749					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CAATACTATCGCCAACCTGTT	0.353								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	111643876	G	A	111643876	2	1	152	1	0	0	0	0	0	0	0	1	13240	1074	38	1		1	REV3L	6	111643876	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1102898	111643876	59471191	379	82196											
NT5DC1	221294	broad.mit.edu	37	chr6	116559395	116559395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attcagatattttcccagctCgtcactatagtaattgggag	8	8	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:116559395C>T	uc003pwj.2	+	10	1062	c.967C>T	c.(967-969)CGT>TGT	p.R323C	NT5DC1_uc003pwk.2_Missense_Mutation_p.R315C|NT5DC1_uc003pwl.2_Missense_Mutation_p.R273C	NM_152729	NP_689942	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase, cytosolic II-like 1 protein	323							hydrolase activity|metal ion binding				0		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		TTTCCCAGCTCGTCACTATAG	0.463													T	116559395	C	T	116559395	3	4	152	1	0	0	0	0	1	0	0	0	10690	884	31	1	1005	1	NT5DC1	6	116559395	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	4915519	116559395	54555672	380	82197											
ROS1	6098	broad.mit.edu	37	chr6	117622205	117622206	+	Frame_Shift_Ins	INS	-	-	A													cttataaatgctatttaagaINSaaaaatttctgaataactga							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:117622204_117622205G>GA	uc003pxp.1	-	41	6864_6865	c.6665_6666C>TC	c.(6664-6666)ttcfs	p.F2222fs	ROS1_uc011ebi.1_Non-coding_Transcript|RN7SK_uc021zee.1_5'Flank	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2222	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGCTATTTAAGAAAAAATTTCT	0.351			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								A	117622206	-	A	117622205	7	5	152	1	0	1	1	0	0	0	0	0	13531	246	9	0	386	0	ROS1	6	117622205	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	1062810	117622205	53492862	381	82198											
DCBLD1	285761	broad.mit.edu	37	chr6	117842739	117842739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatttgaagacagaatacaGgtaagtataggtatcctaac	8	5	0	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:117842739G>A	uc003pxs.2	+	4	637	c.512G>A	c.(511-513)AGC>AAC	p.S171N	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Missense_Mutation_p.S171N	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	171	LCCL.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(1)	1		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		ACAGAATACAGGTAAGTATAG	0.308													A	117842739	G	A	117842739	3	1	152	1	0	0	0	0	1	0	0	0	4280	1014	35	4	526	4	DCBLD1	6	117842739	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	220534	117842739	53272328	382	82199											
C6orf174	387104	broad.mit.edu	37	chr6	127797067	127797067	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgccttcagctcctcctGcagggcctcggtcttggcgt	12	17	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:127797067G>A	uc003qbd.2	-	6	2969	c.2104C>T	c.(2104-2106)CAG>TAG	p.Q702*	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	702	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		AGCTCCTCCTGCAGGGCCTCG	0.627													A	127797067	G	A	127797067	4	1	152	1	0	0	0	0	0	1	0	0	2345	1328	46	2	747	2	C6orf174	6	127797067	Nonsense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	9954328	127797067	43318000	383	82200											
TAAR6	319100	broad.mit.edu	37	chr6	132891868	132891868	+	Frame_Shift_Del	DEL	C	C	-													aggtacattgcggttactgaCcccctggtctatcctaccaa							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:132891867_132891867AC>A	uc011eck.2	+	0	407	c.407_407AC>A	c.(406-408)gacfs	p.D136fs		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA.	136						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GCGGTTACTGACCCCCTGGTC	0.483													-	132891868	C	-	132891868	7	5	152	1	0	1	0	1	0	0	0	0	15489	506	18	0	410	0	TAAR6	6	132891868	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	5094801	132891868	38223199	384	82201											
VNN1	8876	broad.mit.edu	37	chr6	133014300	133014300	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgggaatactatggtgTccacgtggaaatctttcacc	10	9	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:133014300T>G	uc003qdo.2	-	4	709	c.689A>C	c.(688-690)GAC>GCC	p.D230A		NM_004666	NP_004657	O95497	VNN1_HUMAN	vanin 1 precursor	230	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			ovary(3)	3	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TACTATGGTGTCCACGTGGAA	0.428													G	133014300	T	G	133014300	3	3	152	1	0	0	0	0	1	0	0	0	17179	1667	58	5	868	5	VNN1	6	133014300	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	122432	133014300	38100767	385	82202											
IL20RA	53832	broad.mit.edu	37	chr6	137323341	137323341	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctgggctgaggatcattaAggctggatacatcactgctt	12	9	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:137323341A>C	uc003qhj.2	-	7	1449	c.1016T>G	c.(1015-1017)CTT>CGT	p.L339R	IL20RA_uc011edl.1_Missense_Mutation_p.L290R|IL20RA_uc003qhk.2_Missense_Mutation_p.L228R|IL20RA_uc003qhi.2_Missense_Mutation_p.L71R	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha precursor	339	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(2)|skin(2)	4	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		AGGATCATTAAGGCTGGATAC	0.423													C	137323341	A	C	137323341	3	2	152	1	0	0	0	0	1	0	0	0	7668	72	3	5	649	5	IL20RA	6	137323341	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	4309041	137323341	33791726	386	82203											
KIAA1244	57221	broad.mit.edu	37	chr6	138531151	138531151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtgacgccttcgctcaaCgaggacctgcaggtggaagt	13	10	1	1	rs115941727	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:138531151C>T	uc003qhu.2	+	4	324	c.324C>T	c.(322-324)AAC>AAT	p.N108N		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	108					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTTCGCTCAACGAGGACCTGC	0.502													T	138531151	C	T	138531151	2	4	152	1	0	0	0	0	0	0	0	1	8217	535	19	1		1	KIAA1244	6	138531151	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1207810	138531151	32583916	387	82204											
KIAA1244	57221	broad.mit.edu	37	chr6	138656009	138656009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggagtggtgggagaatgCggggaacaaaatctacacca	15	6	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:138656009C>T	uc003qhu.2	+	33	6026	c.6026C>T	c.(6025-6027)GCG>GTG	p.A2009V		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	2009					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGGGAGAATGCGGGGAACAAA	0.567													T	138656009	C	T	138656009	3	4	152	1	0	0	0	0	1	0	0	0	8217	768	27	1	6156	1	KIAA1244	6	138656009	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	124858	138656009	32459058	388	82205											
HIVEP2	3097	broad.mit.edu	37	chr6	143093766	143093766	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcgtgtcctcttcatcccCtacgctcttctctttccggc	8	17	4	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:143093766C>A	uc003qjd.2	-	5	2853	c.2110G>T	c.(2110-2112)GGG>TGG	p.G704W		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	704					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCTTCATCCCCTACGCTCTTC	0.512													A	143093766	C	A	143093766	3	1	152	1	0	0	0	0	1	0	0	0	7187	681	24	5	5254	5	HIVEP2	6	143093766	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	4437757	143093766	28021301	389	82206											
UTRN	7402	broad.mit.edu	37	chr6	144999592	144999592	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatatttaaaagcattgaCggaaacaggcagaagatggt	11	5	0	3	rs150099766	by1000genomes	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:144999592C>T	uc003qkt.2	+	51	7622	c.7530C>T	c.(7528-7530)GAC>GAT	p.D2510D		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2510	Spectrin 17.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAAGCATTGACGGAAACAGGC	0.368													T	144999592	C	T	144999592	2	4	152	1	0	0	0	0	0	0	0	1	17100	535	19	1		1	UTRN	6	144999592	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1905826	144999592	26115475	390	82207											
FBXO30	84085	broad.mit.edu	37	chr6	146126844	146126844	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagatgatcttggtctttcAagttttgatcctctaagctt	7	7	4	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:146126844A>G	uc003qla.2	-	2	897	c.698T>C	c.(697-699)TTG>TCG	p.L233S	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	233							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TTGGTCTTTCAAGTTTTGATC	0.393													G	146126844	A	G	146126844	3	3	152	1	0	0	0	0	1	0	0	0	5740	131	5	3	1547	3	FBXO30	6	146126844	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	1127252	146126844	24988223	391	82208											
ZC3H12D	340152	broad.mit.edu	37	chr6	149773838	149773838	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggtccatggcggcccaggGggtcatcaggcggcatgaac	17	11	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:149773838G>T	uc010kid.2	-	5	853	c.701C>A	c.(700-702)CCC>CAC	p.P234H	PPIL4_uc010kic.2_Intron|ZC3H12D_uc003qmm.2_Missense_Mutation_p.P234H			A2A288	ZC12D_HUMAN	SubName: Full=Tumor suppressor P58TFL;	234						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding				0		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		GCGGCCCAGGGGGTCATCAGG	0.602													T	149773838	G	T	149773838	3	4	152	1	0	0	0	0	1	0	0	0	17561	1232	43	5	890	5	ZC3H12D	6	149773838	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	3646994	149773838	21341229	392	82209											
C6orf97	80129	broad.mit.edu	37	chr6	151907196	151907196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtttctggaggtgttttgcGagacaacttgaattttgaga	13	4	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:151907196G>A	uc003qol.2	+	7	1354	c.1265G>A	c.(1264-1266)CGA>CAA	p.R422Q		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	422											0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		GGTGTTTTGCGAGACAACTTG	0.448													A	151907196	G	A	151907196	3	1	152	1	0	0	0	0	1	0	0	0	2374	1058	37	1	1291	1	C6orf97	6	151907196	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2133358	151907196	19207871	393	82210											
SYNE1	23345	broad.mit.edu	37	chr6	152675951	152675951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacgttattgaactgagttCgagtctcggacagcctgtgc	11	11	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:152675951C>T	uc010kiw.2	-	67	11371	c.10769G>A	c.(10768-10770)CGA>CAA	p.R3590Q	SYNE1_uc003qot.3_Missense_Mutation_p.R3597Q|SYNE1_uc003qou.3_Missense_Mutation_p.R3590Q|SYNE1_uc010kja.1_Missense_Mutation_p.R295Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3590	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)		GAACTGAGTTCGAGTCTCGGA	0.502										HNSCC(10;0.0054)			T	152675951	C	T	152675951	3	4	152	1	0	0	0	0	1	0	0	0	15442	884	31	1	16017	1	SYNE1	6	152675951	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	768755	152675951	18439116	394	82211											
SYNE1	23345	broad.mit.edu	37	chr6	152823876	152823876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggtttatccacatcaacGtctgaaaaaacaaaaaagaa	5	8	3	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:152823876G>A	uc010kiw.2	-	10	1382	c.780C>T	c.(778-780)GAC>GAT	p.D260D	SYNE1_uc003qot.3_Silent_p.D267D|SYNE1_uc003qou.3_Silent_p.D260D|SYNE1_uc010kjb.1_Silent_p.D260D|SYNE1_uc003qpa.1_Silent_p.D260D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	260	Actin-binding.|CH 2.|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)		CCACATCAACGTCTGAAAAAA	0.348										HNSCC(10;0.0054)			A	152823876	G	A	152823876	2	1	152	1	0	0	0	0	0	0	0	1	15442	1159	40	1		1	SYNE1	6	152823876	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	147925	152823876	18291191	395	82212											
RGS17	26575	broad.mit.edu	37	chr6	153347617	153347617	+	Missense_Mutation	SNP	T	T	G													taggacctggatactctccaTttttgtagtgtgtgtgggtc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:153347617T>G	uc003qpm.2	-	3	337	c.181A>C	c.(181-183)ATG>CTG	p.M61L		NM_012419	NP_036551	Q9UGC6	RGS17_HUMAN	regulator of G-protein signalling 17	61					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			pancreas(1)	1		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		ATACTCTCCATTTTTGTAGTG	0.413									Lung_Cancer_Familial_Clustering_of				G	153347617	T	G	153347617	3	3	152	1	0	0	0	0	1	0	0	0	13299	1493	52	5	463	5	RGS17	6	153347617	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	523741	153347617	17767450	396	82213	413	2									
RGS17	26575	broad.mit.edu	37	chr6	153347627	153347627	+	Silent	SNP	G	G	A													atactctccatttttgtagtGtgtgtgggtcttcccgcatt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:153347627G>A	uc003qpm.2	-	3	327	c.171C>T	c.(169-171)CAC>CAT	p.H57H		NM_012419	NP_036551	Q9UGC6	RGS17_HUMAN	regulator of G-protein signalling 17	57					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			pancreas(1)	1		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		TTTTTGTAGTGTGTGTGGGTC	0.403									Lung_Cancer_Familial_Clustering_of				A	153347627	G	A	153347627	2	1	152	1	0	0	0	0	0	0	0	1	13299	1368	48	4		4	RGS17	6	153347627	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	10	153347627	17767440	397	82214	413	2									
TULP4	56995	broad.mit.edu	37	chr6	158924920	158924920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaggacagctccgagagcGagcctgagctgttcatcagc	12	13	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:158924920G>A	uc003qrf.2	+	13	5582	c.4225G>A	c.(4225-4227)GAG>AAG	p.E1409K	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1409					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CTCCGAGAGCGAGCCTGAGCT	0.552													A	158924920	G	A	158924920	3	1	152	1	0	0	0	0	1	0	0	0	16773	1059	37	1	4275	1	TULP4	6	158924920	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	5577293	158924920	12190147	398	82215											
PDE10A	10846	broad.mit.edu	37	chr6	165792789	165792789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcaatgatggctttgcGgatgatctcaagcacctgct	12	9	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:165792789G>A	uc003qun.2	-	19	2090	c.1849C>T	c.(1849-1851)CGC>TGC	p.R617C	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.R547C|PDE10A_uc003quo.2_Missense_Mutation_p.R627C	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	617					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	ATGGCTTTGCGGATGATCTCA	0.413													A	165792789	G	A	165792789	3	1	152	1	0	0	0	0	1	0	0	0	11630	1116	39	1	510	1	PDE10A	6	165792789	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	6867869	165792789	5322278	399	82216											
UNCX	340260	broad.mit.edu	37	chr7	1275732	1275732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccgacagcgacagcggcGgcggcggcctgtctccggag	17	15	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:1275732G>A	uc011jvw.1	+	3	715	c.715G>A	c.(715-717)GGC>AGC	p.G239S		NM_001080461	NP_001073930	A6NJT0	UNC4_HUMAN	UNC homeobox	239					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CGACAGCGGCGGCGGCGGCCT	0.428													A	1275732	G	A	1275732	3	1	152	1	0	0	0	0	1	0	0	0	16995	1116	39	1	725	1	UNCX	7	1275732	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08		1275732	157862931	400	82217											
SNX8	29886	broad.mit.edu	37	chr7	2296638	2296638	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtagttccgcagctccatCgtctgaatcgcgttctcctg	9	13	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:2296638C>T	uc003slw.2	-	10	1198	c.1155G>A	c.(1153-1155)ACG>ACA	p.T385T		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	385					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GCAGCTCCATCGTCTGAATCG	0.652													T	2296638	C	T	2296638	2	4	152	1	0	0	0	0	0	0	0	1	14908	871	31	1		1	SNX8	7	2296638	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1020906	2296638	156842025	401	82218											
TTYH3	80727	broad.mit.edu	37	chr7	2687658	2687658	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctggtgctggttggccTcatccgcagctccaagggca	12	15	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:2687658T>G	uc003smp.2	+	5	879	c.692T>G	c.(691-693)CTC>CGC	p.L231R	TTYH3_uc010ksn.2_Intron|TTYH3_uc003smq.2_Missense_Mutation_p.L60R	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	tweety 3	231	Helical; Name=3; (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CTGGTTGGCCTCATCCGCAGC	0.677													G	2687658	T	G	2687658	3	3	152	1	0	0	0	0	1	0	0	0	16738	1551	54	5	710	5	TTYH3	7	2687658	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	391020	2687658	156451005	402	82219											
TNRC18	84629	broad.mit.edu	37	chr7	5417124	5417124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccagcgccgggccccccGtcaccatgaggttggggttc	14	17	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:5417124G>A	uc003soi.3	-	7	2688	c.2339C>T	c.(2338-2340)ACG>ATG	p.T780M		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	780							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGGGCCCCCCGTCACCATGAG	0.677													A	5417124	G	A	5417124	3	1	152	1	0	0	0	0	1	0	0	0	16336	1145	40	1	6663	1	TNRC18	7	5417124	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2729466	5417124	153721539	403	82220											
FSCN1	6624	broad.mit.edu	37	chr7	5632672	5632672	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgggttcaaggtgaacgcGtccgccagcagcctgaagaa	13	11	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:5632672G>A	uc003sou.2	+	1	219	c.105G>A	c.(103-105)GCG>GCA	p.A35A		NM_003088	NP_003079	Q16658	FSCN1_HUMAN	fascin 1	35					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			ovary(1)	1		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		AGGTGAACGCGTCCGCCAGCA	0.677													A	5632672	G	A	5632672	2	1	152	1	0	0	0	0	0	0	0	1	6067	1132	40	1		1	FSCN1	7	5632672	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	215548	5632672	153505991	404	82221											
C7orf70	84792	broad.mit.edu	37	chr7	6370791	6370791	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctgtccctcatgcttcGtgttcttggatgcggtgggc	12	11	4	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:6370791G>A	uc003spu.2	-	2	463	c.-5C>T	c.(-7--3)CACGA>CATGA			NM_001037163	NP_001032240	Q7Z4H9	SIPAR_HUMAN	hypothetical protein LOC84792							nucleus					0						CTCATGCTTCGTGTTCTTGGA	0.542													A	6370791	G	A	6370791	1	1	152	1	0	0	0	0	0	0	0	0	2415	1160	40	1		1	C7orf70	7	6370791	Translation_Start_Site	SNP	G	TCGA-CD-8536-01A-11D-2340-08	738119	6370791	152767872	405	82222											
SP8	221833	broad.mit.edu	37	chr7	20824574	20824574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggcggggctgagcaggtGcgaggaggcgccgctgctga	20	12	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:20824574G>A	uc003suy.2	-	3	1049	c.808C>T	c.(808-810)CAC>TAC	p.H270Y	SP8_uc003suz.2_Missense_Mutation_p.H288Y	NM_198956	NP_945194	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor isoform 2	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1						CTGAGCAGGTGCGAGGAGGCG	0.721													A	20824574	G	A	20824574	3	1	152	1	0	0	0	0	1	0	0	0	14970	1319	46	2	668	2	SP8	7	20824574	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	14453783	20824574	138314089	406	82223											
DNAH11	8701	broad.mit.edu	37	chr7	21631029	21631029	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagcgcacacagaaaaacgTgaaggtgatccagcagacca	11	10	0	5			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:21631029T>C	uc003svc.2	+	14	2532	c.2501T>C	c.(2500-2502)GTG>GCG	p.V834A		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	834	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CAGAAAAACGTGAAGGTGATC	0.602									Kartagener_syndrome				C	21631029	T	C	21631029	3	2	152	1	0	0	0	0	1	0	0	0	4599	1696	59	3	2555	3	DNAH11	7	21631029	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	806455	21631029	137507634	407	82224											
HOXA2	3199	broad.mit.edu	37	chr7	27142045	27142045	+	Frame_Shift_Del	DEL	A	A	-													aatgtatcagcgacagggggAaaagatgtcaggcactcagc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:27142045delA	uc003syh.2	-	1	350	c.75delT	c.(73-75)TTTfs	p.F25fs		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	25						nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CGACAGGGGGAAAAGATGTCA	0.498													-	27142045	A	-	27142045	7	5	152	1	0	1	0	1	0	0	0	0	7292	243	9	0	1063	0	HOXA2	7	27142045	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	5511016	27142045	131996618	408	82225											
CHN2	1124	broad.mit.edu	37	chr7	29552339	29552339	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttaatagaaaacgaagaCgttttattctaatccatcag	5	6	2	2	rs143270987		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:29552339C>T	uc003szz.2	+	13	1832	c.1395C>T	c.(1393-1395)GAC>GAT	p.D465D	CHN2_uc011jzs.1_Silent_p.D540D|CHN2_uc010kva.2_3'UTR|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_Silent_p.D430D|CHN2_uc011jzt.1_Silent_p.D478D|CHN2_uc010kvd.2_Silent_p.D321D|CHN2_uc011jzu.1_Silent_p.D450D|CHN2_uc010kvg.2_Silent_p.D283D|CHN2_uc010kvh.2_Silent_p.D225D|CHN2_uc010kvi.2_Silent_p.D257D|CHN2_uc010kve.2_3'UTR|CHN2_uc003taa.2_Silent_p.D329D|CHN2_uc010kvf.2_Silent_p.D271D|CHN2_uc010kvj.2_Silent_p.D238D|CHN2_uc010kvk.2_Silent_p.D140D|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Silent_p.D284D|CHN2_uc011jzv.1_Silent_p.D258D	NM_004067	NP_004058	P52757	CHIO_HUMAN	beta chimerin isoform 2	465	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)	2						AAAACGAAGACGTTTTATTCT	0.453													T	29552339	C	T	29552339	2	4	152	1	0	0	0	0	0	0	0	1	3363	535	19	1		1	CHN2	7	29552339	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	2410294	29552339	129586324	409	82226											
BBS9	27241	broad.mit.edu	37	chr7	33573588	33573588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggaagaaacggtggatgCcgccatttcccacctgttga	12	11	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:33573588C>T	uc003tdn.1	+	21	2834	c.2321C>T	c.(2320-2322)GCC>GTC	p.A774V	BBS9_uc003tdo.1_Missense_Mutation_p.A739V|BBS9_uc003tdp.1_Missense_Mutation_p.A769V|BBS9_uc003tdq.1_Missense_Mutation_p.A734V|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.A298V|BBS9_uc003tds.1_Missense_Mutation_p.A197V|BBS9_uc003tdt.2_RNA	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	774					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			ACGGTGGATGCCGCCATTTCC	0.433									Bardet-Biedl_syndrome				T	33573588	C	T	33573588	3	4	152	1	0	0	0	0	1	0	0	0	1342	739	26	2	2399	2	BBS9	7	33573588	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	4021249	33573588	125565075	410	82227											
AOAH	313	broad.mit.edu	37	chr7	36677463	36677463	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcttagtgcttaccagaatCggggacttcttgacaatttg	10	8	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:36677463C>T	uc003tfh.3	-	5	845	c.444G>A	c.(442-444)CCG>CCA	p.P148P	AOAH_uc010kxf.2_Silent_p.P148P|AOAH_uc011kba.1_Silent_p.P116P	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor	148					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			skin(1)	1						TTACCAGAATCGGGGACTTCT	0.438													T	36677463	C	T	36677463	2	4	152	1	0	0	0	0	0	0	0	1	726	871	31	1		1	AOAH	7	36677463	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	3103875	36677463	122461200	411	82228											
C7orf36	57002	broad.mit.edu	37	chr7	39606049	39606049	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcagcctccttgatccAgggccctggagacaaagggg	13	12	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:39606049A>G	uc003thc.3	+	1	41	c.32A>G	c.(31-33)CAG>CGG	p.Q11R		NM_020192	NP_064577	Q9NRH1	CG036_HUMAN	hypothetical protein LOC57002	11											0						TCCTTGATCCAGGGCCCTGGA	0.597													G	39606049	A	G	39606049	3	3	152	1	0	0	0	0	1	0	0	0	2390	188	7	3	34	3	C7orf36	7	39606049	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	2928586	39606049	119532614	412	82229											
URGCP	55665	broad.mit.edu	37	chr7	43916273	43916273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctctgcacactcacagcCgtctcaccagctcaatgagc	6	16	4	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:43916273C>T	uc003tiw.2	-	6	2846	c.2789G>A	c.(2788-2790)CGG>CAG	p.R930Q	URGCP_uc003tiu.2_Missense_Mutation_p.R887Q|URGCP_uc003tiv.2_Missense_Mutation_p.R855Q|URGCP_uc003tix.2_Missense_Mutation_p.R921Q|URGCP_uc003tiy.2_Missense_Mutation_p.R887Q|URGCP_uc003tiz.2_Missense_Mutation_p.R887Q|URGCP_uc011kbj.1_Missense_Mutation_p.R887Q	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	930					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						CACTCACAGCCGTCTCACCAG	0.537													T	43916273	C	T	43916273	3	4	152	1	0	0	0	0	1	0	0	0	17023	652	23	1	10	1	URGCP	7	43916273	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	4310224	43916273	115222390	413	82230											
DBNL	28988	broad.mit.edu	37	chr7	44096385	44096385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaccatcaacgcacgggcCgaggaggatgtggagcctga	16	10	1	2	rs140718490	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:44096385C>T	uc003tjp.3	+	5	455	c.357C>T	c.(355-357)GCC>GCT	p.A119A	DBNL_uc003tjn.2_5'UTR|DBNL_uc003tjo.3_Silent_p.A119A|DBNL_uc003tjr.3_5'UTR|DBNL_uc003tjq.3_Silent_p.A119A|DBNL_uc011kbm.1_Silent_p.A94A|DBNL_uc011kbn.1_Silent_p.A16A|DBNL_uc011kbo.1_Silent_p.A19A|DBNL_uc011kbp.1_Intron|DBNL_uc011kbq.1_Silent_p.A44A|DBNL_uc011kbr.1_Silent_p.A67A|DBNL_uc011kbs.1_Silent_p.A16A	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	drebrin-like isoform b	119	ADF-H.				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			skin(1)	1						ACGCACGGGCCGAGGAGGATG	0.592													T	44096385	C	T	44096385	2	4	152	1	0	0	0	0	0	0	0	1	4255	639	23	1		1	DBNL	7	44096385	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	180112	44096385	115042278	414	82231											
NPC1L1	29881	broad.mit.edu	37	chr7	44578698	44578698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccaggtccaggattccgCtgaagttcttgggccccagc	12	13	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:44578698C>T	uc003tlb.2	-	2	1354	c.1298G>A	c.(1297-1299)AGC>AAC	p.S433N	NPC1L1_uc003tlc.2_Missense_Mutation_p.S433N|NPC1L1_uc011kbw.1_Missense_Mutation_p.S433N|NPC1L1_uc003tld.2_Missense_Mutation_p.S433N	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	433	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	CAGGATTCCGCTGAAGTTCTT	0.602													T	44578698	C	T	44578698	3	4	152	1	0	0	0	0	1	0	0	0	10571	797	28	2	2857	2	NPC1L1	7	44578698	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	482313	44578698	114559965	415	82232											
IGFBP1	3484	broad.mit.edu	37	chr7	45930305	45930305	+	Frame_Shift_Del	DEL	A	A	-													ctctccatgtcaccaacatcAaaaaatggaaggtgaggccc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:45930304_45930304CA>C	uc003tnp.3	+	1	800	c.507_507CA>C	c.(505-507)atcfs	p.I169fs		NM_000596	NP_000587	P08833	IBP1_HUMAN	Homo sapiens insulin-like growth factor binding protein 1 (IGFBP1), mRNA.	169						extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						TCACCAACATCAAAAAATGGA	0.522											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	45930305	A	-	45930305	7	5	152	1	0	1	0	1	0	0	0	0	7578	131	5	0	514	0	IGFBP1	7	45930305	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	1351607	45930305	113208358	416	82233											
PKD1L1	168507	broad.mit.edu	37	chr7	47930278	47930278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaaaggaaacagtgggaGccgcggcatccagttggtgt	14	10	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:47930278G>A	uc003tny.1	-	16	2537	c.2537C>T	c.(2536-2538)GCT>GTT	p.A846V		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	846	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						AACAGTGGGAGCCGCGGCATC	0.572													A	47930278	G	A	47930278	3	1	152	1	0	0	0	0	1	0	0	0	11964	971	34	2	6180	2	PKD1L1	7	47930278	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1999973	47930278	111208385	417	82234											
LANCL2	55915	broad.mit.edu	37	chr7	55467769	55467769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacacagagataggtccagGcaccgtgtgtgagtcagcta	13	9	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:55467769G>A	uc003tqp.2	+	4	1228	c.650G>A	c.(649-651)GGC>GAC	p.G217D		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	217					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			ovary(1)|skin(1)	2	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			ATAGGTCCAGGCACCGTGTGT	0.458													A	55467769	G	A	55467769	3	1	152	1	0	0	0	0	1	0	0	0	8621	1203	42	2	664	2	LANCL2	7	55467769	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	7537491	55467769	103670894	418	82235											
ZNF107	51427	broad.mit.edu	37	chr7	64168414	64168414	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agataattcatactggagagAacctctacaaatttgaagaa	7	6	2	4	rs59947864		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:64168414A>G	uc003ttd.2	+	7	2518	c.1732A>G	c.(1732-1734)AAC>GAC	p.N578D	ZNF107_uc003tte.2_Missense_Mutation_p.N578D	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	578					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TACTGGAGAGAACCTCTACAA	0.338													G	64168414	A	G	64168414	3	3	152	1	0	0	0	0	1	0	0	0	17712	246	9	3	1738	3	ZNF107	7	64168414	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	8700645	64168414	94970249	419	82236											
GUSB	2990	broad.mit.edu	37	chr7	65444731	65444731	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacttggaggtgtcagtcagGtattggatggtccctggtgg	16	7	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:65444731G>T	uc003tun.2	-	3	640	c.564C>A	c.(562-564)TAC>TAA	p.Y188*	GUSB_uc011kdt.1_Intron|GUSB_uc010kzw.1_Intron	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	188					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0						TGTCAGTCAGGTATTGGATGG	0.627													T	65444731	G	T	65444731	4	4	152	1	0	0	0	0	0	1	0	0	6902	1256	44	5	1431	5	GUSB	7	65444731	Nonsense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1276317	65444731	93693932	420	82237											
TYW1	55253	broad.mit.edu	37	chr7	66482881	66482881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctctggatgcttggcgcGcatcgtgtgatgagtcgagg	17	8	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:66482881G>A	uc003tvn.2	+	6	761	c.612G>A	c.(610-612)GCG>GCA	p.A204A	TYW1_uc010lai.2_RNA	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	radical S-adenosyl methionine and flavodoxin	204	FMN (By similarity).|Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			skin(1)	1		Lung NSC(55;0.0846)|all_lung(88;0.183)				TGCTTGGCGCGCATCGTGTGA	0.507													A	66482881	G	A	66482881	2	1	152	1	0	0	0	0	0	0	0	1	16815	1074	38	1		1	TYW1	7	66482881	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1038150	66482881	92655782	421	82238											
STX1A	6804	broad.mit.edu	37	chr7	73118501	73118501	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctccagctgcctctggatgCggcctttgcagcgctcgcgg	13	15	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:73118501C>G	uc003tyx.2	-	6	470	c.443G>C	c.(442-444)CGC>CCC	p.R148P	WBSCR22_uc003tyw.1_3'UTR|STX1A_uc003tyy.2_Missense_Mutation_p.R148P|STX1A_uc010lbj.1_Missense_Mutation_p.R148P	NM_004603	NP_004594	Q16623	STX1A_HUMAN	syntaxin 1A isoform 1	148	Cytoplasmic (Potential).				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCTCTGGATGCGGCCTTTGCA	0.677													G	73118501	C	G	73118501	3	3	152	1	0	0	0	0	1	0	0	0	15342	768	27	5	443	5	STX1A	7	73118501	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	6635620	73118501	86020162	422	82239											
ELN	2006	broad.mit.edu	37	chr7	73470665	73470665	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggagctgggggctttccCggctttggtgtcggagtcgg	19	8	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:73470665C>T	uc003tzw.2	+	20	1306	c.1215C>T	c.(1213-1215)CCC>CCT	p.P405P	RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_RNA|ELN_uc011kfe.1_Silent_p.P374P|ELN_uc003tzn.2_Silent_p.P405P|ELN_uc003tzz.2_Silent_p.P369P|ELN_uc003tzo.2_Silent_p.P391P|ELN_uc003tzp.2_Silent_p.P361P|ELN_uc003tzq.2_Silent_p.P288P|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Silent_p.P405P|ELN_uc003tzt.2_Silent_p.P410P|ELN_uc003tzu.2_Silent_p.P410P|ELN_uc003tzv.2_Silent_p.P395P|ELN_uc003tzx.2_Silent_p.P395P|ELN_uc011kff.1_Silent_p.P405P|ELN_uc003tzy.2_Silent_p.P400P	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	405	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGGGCTTTCCCGGCTTTGGTG	0.627			T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome						T	73470665	C	T	73470665	2	4	152	1	0	0	0	0	0	0	0	1	5071	639	23	1		1	ELN	7	73470665	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	352164	73470665	85667998	423	82240											
STYXL1	51657	broad.mit.edu	37	chr7	75651250	75651250	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgttgttatcatacaCcacgcagtacttcacacact	6	13	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:75651250C>G	uc003uej.3	-	4	399	c.226G>C	c.(226-228)GTG>CTG	p.V76L	STYXL1_uc011kgf.1_5'UTR|STYXL1_uc011kgg.1_5'UTR|STYXL1_uc003ueh.2_5'UTR|STYXL1_uc003uek.3_Intron|STYXL1_uc003uel.2_Missense_Mutation_p.V76L|STYXL1_uc003uem.2_Missense_Mutation_p.V76L|STYXL1_uc010ldg.1_RNA|STYXL1_uc010ldh.1_Missense_Mutation_p.V76L|STYXL1_uc003uen.1_Missense_Mutation_p.V76L	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	map kinase phosphatase-like protein MK-STYX	76	Rhodanese.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity				0						TTATCATACACCACGCAGTAC	0.423													G	75651250	C	G	75651250	3	3	152	1	0	0	0	0	1	0	0	0	15360	507	18	5	739	5	STYXL1	7	75651250	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	2180585	75651250	83487413	424	82241											
SEMA3D	223117	broad.mit.edu	37	chr7	84751151	84751151	+	Frame_Shift_Del	DEL	A	A	-													cttagcatcatcaaagcaggAaaaaggtgaaaatcttggct							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:84751150_84751150GA>G	uc003uic.3	-	0	98	c.58_58TC>C	c.(58-60)cctfs	p.P20fs	SEMA3D_uc010led.3_Frame_Shift_Del_p.P20fs|SEMA3D_uc010lee.1_Frame_Shift_Del_p.P20fs	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	20					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						ATCAAAGCAGGAAAAAGGTGA	0.343													-	84751151	A	-	84751151	7	5	152	1	0	1	0	1	0	0	0	0	14027	243	9	0	2344	0	SEMA3D	7	84751151	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	9099901	84751151	74387512	425	82242											
ZNF804B	219578	broad.mit.edu	37	chr7	88963201	88963202	+	Frame_Shift_Ins	INS	-	-	T													atctccataaactctaaaatINStttgcaagacaaacacgact							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:88963200_88963201A>AT	uc011khi.2	+	3	1442_1443	c.904_905A>AT	c.(904-906)attfs	p.I302fs		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	302						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAACTCTAAAATTTTGCAAGAC	0.342										HNSCC(36;0.09)			T	88963202	-	T	88963201	7	5	152	1	0	1	1	0	0	0	0	0	18168	1493	52	0	919	0	ZNF804B	7	88963201	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	4212050	88963201	70175462	426	82243											
COL1A2	1278	broad.mit.edu	37	chr7	94056367	94056367	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctccgtgggtcctgctggTcctagggtaggtggactcaa	16	10	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:94056367T>C	uc003ung.1	+	47	3624	c.3153T>C	c.(3151-3153)GGT>GGC	p.G1051G	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1051					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTCCTGCTGGTCCTAGGGTAG	0.517										HNSCC(75;0.22)			C	94056367	T	C	94056367	2	2	152	1	0	0	0	0	0	0	0	1	3678	1654	58	3		3	COL1A2	7	94056367	Silent	SNP	T	TCGA-CD-8536-01A-11D-2340-08	5093166	94056367	65082296	427	82244											
DYNC1I1	1780	broad.mit.edu	37	chr7	95499296	95499296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccagactcctcttgccaCgcatcagtctgaaggtaaac	8	14	3	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:95499296C>T	uc003uoc.3	+	6	804	c.527C>T	c.(526-528)ACG>ATG	p.T176M	DYNC1I1_uc003uod.3_Missense_Mutation_p.T159M|DYNC1I1_uc003uob.2_Missense_Mutation_p.T139M|DYNC1I1_uc003uoe.3_Missense_Mutation_p.T156M|DYNC1I1_uc010lfl.2_Missense_Mutation_p.T165M	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	176					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CCTCTTGCCACGCATCAGTCT	0.453													T	95499296	C	T	95499296	3	4	152	1	0	0	0	0	1	0	0	0	4842	536	19	1	545	1	DYNC1I1	7	95499296	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1442929	95499296	63639367	428	82245											
DYNC1I1	1780	broad.mit.edu	37	chr7	95661985	95661985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatgtttttgcagcatcccGtgtactgtgtaaatgttgtt	9	6	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:95661985G>A	uc003uoc.3	+	12	1451	c.1174G>A	c.(1174-1176)GTG>ATG	p.V392M	DYNC1I1_uc003uod.3_Missense_Mutation_p.V375M|DYNC1I1_uc003uob.2_Missense_Mutation_p.V355M|DYNC1I1_uc003uoe.3_Missense_Mutation_p.V372M|DYNC1I1_uc010lfl.2_Missense_Mutation_p.V381M	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	392	WD 3.				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GCAGCATCCCGTGTACTGTGT	0.418													A	95661985	G	A	95661985	3	1	152	1	0	0	0	0	1	0	0	0	4842	1145	40	1	1216	1	DYNC1I1	7	95661985	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	162689	95661985	63476678	429	82246											
DLX5	1749	broad.mit.edu	37	chr7	96653701	96653701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcggagccgttcacgcCgtgatactgatactggtagg	14	12	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:96653701C>T	uc003uon.2	-	1	443	c.235G>A	c.(235-237)GGC>AGC	p.G79S	DLX5_uc011kim.1_Missense_Mutation_p.G79S	NM_005221	NP_005212	P56178	DLX5_HUMAN	distal-less homeobox 5	79					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CCGTTCACGCCGTGATACTGA	0.612													T	96653701	C	T	96653701	3	4	152	1	0	0	0	0	1	0	0	0	4574	652	23	1	646	1	DLX5	7	96653701	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	991716	96653701	62484962	430	82247											
TRRAP	8295	broad.mit.edu	37	chr7	98524886	98524886	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgagcaggccctgacaggCgccttcatgtctgctgtcat	11	12	3	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:98524886C>T	uc003upp.2	+	23	3281	c.3072C>T	c.(3070-3072)GGC>GGT	p.G1024G	TRRAP_uc011kis.1_Silent_p.G1024G|TRRAP_uc003upr.2_Silent_p.G716G	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1024					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCTGACAGGCGCCTTCATGT	0.562													T	98524886	C	T	98524886	2	4	152	1	0	0	0	0	0	0	0	1	16598	755	27	1		1	TRRAP	7	98524886	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1871185	98524886	60613777	431	82248											
ARPC1B	10095	broad.mit.edu	37	chr7	98988636	98988636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgcggctgggtacatggCgtctgtttctcagccagcgg	15	11	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:98988636C>T	uc003upz.2	+	6	710	c.621C>T	c.(619-621)GGC>GGT	p.G207G	ARPC1B_uc003uqa.2_Silent_p.G207G|ARPC1B_uc003uqb.2_Silent_p.G207G|ARPC1B_uc003uqc.2_Silent_p.G207G|ARPC1B_uc003uqd.2_Silent_p.G19G	NM_005720	NP_005711	O15143	ARC1B_HUMAN	actin related protein 2/3 complex subunit 1B	207					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton				0	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GGGTACATGGCGTCTGTTTCT	0.637													T	98988636	C	T	98988636	2	4	152	1	0	0	0	0	0	0	0	1	970	755	27	1		1	ARPC1B	7	98988636	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	463750	98988636	60150027	432	82249											
TAF6	6878	broad.mit.edu	37	chr7	99711274	99711274	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggggcacccggggcagaGgggtattgatgatgtcgctc	17	10	0	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:99711274G>T	uc003uti.2	-	4	443	c.362C>A	c.(361-363)CCT>CAT	p.P121H	TAF6_uc003utg.2_Missense_Mutation_p.P62H|TAF6_uc003uth.2_Missense_Mutation_p.P178H|TAF6_uc003utk.2_Missense_Mutation_p.P121H|TAF6_uc011kji.1_Missense_Mutation_p.P158H|TAF6_uc003utj.2_Missense_Mutation_p.P111H|TAF6_uc003utl.2_Missense_Mutation_p.P121H|TAF6_uc003utm.2_Missense_Mutation_p.P121H|TAF6_uc003utn.1_Intron	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	121					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCGGGGCAGAGGGGTATTGAT	0.597													T	99711274	G	T	99711274	3	4	152	1	0	0	0	0	1	0	0	0	15527	1000	35	5	1719	5	TAF6	7	99711274	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	722638	99711274	59427389	433	82250											
C7orf51	222950	broad.mit.edu	37	chr7	100084560	100084560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaggatgggtttcatgaCgatgcccgcctcccaggagc	12	14	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:100084560C>T	uc003uvd.1	+	3	344	c.185C>T	c.(184-186)ACG>ATG	p.T62M	C7orf51_uc003uve.1_5'Flank	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	62										skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTTTCATGACGATGCCCGCC	0.751													T	100084560	C	T	100084560	3	4	152	1	0	0	0	0	1	0	0	0	2400	536	19	1	191	1	C7orf51	7	100084560	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	373286	100084560	59054103	434	82251											
ACTL6B	51412	broad.mit.edu	37	chr7	100253163	100253163	+	Frame_Shift_Del	DEL	C	C	-													ccccctccagctccagcccgCccccctcctccgcggccagc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:100253162_100253162GC>G	uc003uvy.3	-	2	257	c.150_150GC>C	c.(148-150)ggcfs	p.G50fs	ACTL6B_uc003uvz.3_Non-coding_Transcript|AK055267_uc003uwa.1_5'Flank	NM_016188	NP_057272	O94805	ACL6B_HUMAN	Homo sapiens actin-like 6B (ACTL6B), mRNA.	50	Essential for mediating its function in dendritic development; may contribute to neuronal-specific targeting (By similarity).				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	SWI/SNF complex|nBAF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCTCCAGCCCGCCCCCCTCCT	0.642													-	100253163	C	-	100253163	7	5	152	1	0	1	0	1	0	0	0	0	199	739	26	0	1179	0	ACTL6B	7	100253163	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	168603	100253163	58885500	435	82252											
SH2B2	10603	broad.mit.edu	37	chr7	101944555	101944555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcctggagttcttcgtgCcgcccaaagtgagttacccc	10	15	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:101944555C>T	uc011kko.1	+	2	895	c.850C>T	c.(850-852)CCG>TCG	p.P284S		NM_020979	NP_066189	O14492	SH2B2_HUMAN	SH2B adaptor protein 2	241	PH.				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity				0						GTTCTTCGTGCCGCCCAAAGT	0.692													T	101944555	C	T	101944555	3	4	152	1	0	0	0	0	1	0	0	0	14228	739	26	2	856	2	SH2B2	7	101944555	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1691392	101944555	57194108	436	82253											
COG5	10466	broad.mit.edu	37	chr7	107198542	107198542	+	Frame_Shift_Del	DEL	A	A	-													ttacatcaaagtcttcgtttAaaaagtcactataacaccct							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:107198542delA	uc003ved.2	-	2	731	c.206delT	c.(205-207)TTAfs	p.L69fs	COG5_uc003vec.2_Frame_Shift_Del_p.L69fs|COG5_uc003vee.2_Frame_Shift_Del_p.L69fs	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	69					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						GTCTTCGTTTAAAAAGTCACT	0.333													-	107198542	A	-	107198542	7	5	152	1	0	1	0	1	0	0	0	0	3661	372	13	0	2464	0	COG5	7	107198542	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	5253987	107198542	51940121	437	82254											
SLC26A4	5172	broad.mit.edu	37	chr7	107323940	107323940	+	Frame_Shift_Del	DEL	A	A	-													ttcatatggagccaacctggAaaaaaattacaatgctggca							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:107323939_107323939GA>G	uc003vep.3	+	7	1182	c.958_958GA>G	c.(958-960)gaafs	p.E320fs		NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	320					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	p.E320K(2)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AGCCAACCTGGAAAAAAATTA	0.348									Pendred syndrome				-	107323940	A	-	107323940	7	5	152	1	0	1	0	1	0	0	0	0	14519	246	9	0	985	0	SLC26A4	7	107323940	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	125398	107323940	51814723	438	82255											
PNPLA8	50640	broad.mit.edu	37	chr7	108137999	108137999	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagttcaactaattttcgtaGggtctggagagcaaccacgc	10	9	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:108137999G>T	uc003vff.1	-	7	1788	c.1381C>A	c.(1381-1383)CTA>ATA	p.L461I	PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.L461I|PNPLA8_uc003vfi.1_Missense_Mutation_p.L361I|PNPLA8_uc003vfj.1_Missense_Mutation_p.L461I|PNPLA8_uc003vfk.1_Missense_Mutation_p.L361I	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	461	Patatin.				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(2)	2						AATTTTCGTAGGGTCTGGAGA	0.343													T	108137999	G	T	108137999	3	4	152	1	0	0	0	0	1	0	0	0	12171	991	35	5	991	5	PNPLA8	7	108137999	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	814059	108137999	51000664	439	82256											
LRRN3	54674	broad.mit.edu	37	chr7	110763686	110763686	+	Frame_Shift_Del	DEL	A	A	-													tttagcaatatgctacacttAaaagagttggggataaataa							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:110763685_110763685TA>T	uc003vft.4	+	3	1903	c.857_857TA>T	c.(856-858)ttafs	p.L286fs	IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Frame_Shift_Del_p.L286fs|LRRN3_uc003vfs.4_Frame_Shift_Del_p.L286fs|LRRN3_uc022akc.1_Frame_Shift_Del_p.L286fs	NM_001099660	NP_060804	Q9H3W5	LRRN3_HUMAN	Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA.	286						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ATGCTACACTTAAAAGAGTTG	0.328													-	110763686	A	-	110763686	7	5	152	1	0	1	0	1	0	0	0	0	9036	359	13	0	860	0	LRRN3	7	110763686	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	2625687	110763686	48374977	440	82257											
CFTR	1080	broad.mit.edu	37	chr7	117292906	117292906	+	Frame_Shift_Del	DEL	T	T	-													tttgctatagaaagtatttaTtttttctggaacatttagaa					rs121908808		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:117292906delT	uc003vjd.2	+	24	4016	c.3884delT	c.(3883-3885)ATTfs	p.I1295fs	CFTR_uc011knq.1_Frame_Shift_Del_p.I701fs	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	1295	Cytoplasmic (Potential).|ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AAAGTATTTATTTTTTCTGGA	0.284									Cystic_Fibrosis				-	117292906	T	-	117292906	7	5	152	1	0	1	0	1	0	0	0	0	3294	1493	52	0	3978	0	CFTR	7	117292906	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	6529220	117292906	41845757	441	82258											
CTTNBP2	83992	broad.mit.edu	37	chr7	117368281	117368281	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagagcccagtcgacaatcTtgcacacaggatcgcagggg	12	12	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:117368281T>C	uc003vjf.2	-	17	4009	c.3917A>G	c.(3916-3918)AAG>AGG	p.K1306R		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1306										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GTCGACAATCTTGCACACAGG	0.537													C	117368281	T	C	117368281	3	2	152	1	0	0	0	0	1	0	0	0	4045	1609	56	3	1102	3	CTTNBP2	7	117368281	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	75375	117368281	41770382	442	82259											
CTTNBP2	83992	broad.mit.edu	37	chr7	117400559	117400559	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgttattgcaagtcacGtcttccagactccaccatcc	8	13	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:117400559G>A	uc003vjf.2	-	10	3194	c.3102C>T	c.(3100-3102)GAC>GAT	p.D1034D		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1034										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGCAAGTCACGTCTTCCAGAC	0.458													A	117400559	G	A	117400559	2	1	152	1	0	0	0	0	0	0	0	1	4045	1136	40	1		1	CTTNBP2	7	117400559	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	32278	117400559	41738104	443	82260											
PAX4	5078	broad.mit.edu	37	chr7	127253099	127253099	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgcatttcccacttgAgcttctcttgccgacgccat	8	15	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:127253099A>T	uc010lld.1	-	6	874	c.668T>A	c.(667-669)CTC>CAC	p.L223H	PAX4_uc003vmf.2_Missense_Mutation_p.L221H|PAX4_uc003vmg.1_Missense_Mutation_p.L223H|PAX4_uc003vmh.2_Missense_Mutation_p.L221H	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	231					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L223L(1)		ovary(1)	1						TTCCCACTTGAGCTTCTCTTG	0.433													T	127253099	A	T	127253099	3	4	152	1	0	0	0	0	1	0	0	0	11481	304	11	5	379	5	PAX4	7	127253099	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	9852540	127253099	31885564	444	82261											
FLNC	2318	broad.mit.edu	37	chr7	128486949	128486949	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatcaccttcggggggcgGcccatcccaggtgtgcagag	14	13	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:128486949G>A	uc003vnz.3	+	24	4487	c.4278G>A	c.(4276-4278)CGG>CGA	p.R1426R	FLNC_uc003voa.3_Silent_p.R1426R	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1426	Filamin 12.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						TCGGGGGGCGGCCCATCCCAG	0.592													A	128486949	G	A	128486949	2	1	152	1	0	0	0	0	0	0	0	1	5935	1190	42	2		2	FLNC	7	128486949	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1233850	128486949	30651714	445	82262											
IRF5	3663	broad.mit.edu	37	chr7	128587855	128587855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatcagcaacccccatgGctgccggctcttctacagcc	7	19	3	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:128587855G>A	uc003vog.2	+	8	951	c.830G>A	c.(829-831)GGC>GAC	p.G277D	IRF5_uc003voh.2_Missense_Mutation_p.G261D|IRF5_uc010llt.2_Missense_Mutation_p.G185D|IRF5_uc003voi.2_Missense_Mutation_p.G261D|IRF5_uc003voj.3_Missense_Mutation_p.G261D|IRF5_uc010llw.1_3'UTR	NM_002200	NP_002191	Q13568	IRF5_HUMAN	interferon regulatory factor 5 isoform a	271					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						AACCCCCATGGCTGCCGGCTC	0.662													A	128587855	G	A	128587855	3	1	152	1	0	0	0	0	1	0	0	0	7833	1203	42	2	882	2	IRF5	7	128587855	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	100906	128587855	30550808	446	82263											
TSGA13	114960	broad.mit.edu	37	chr7	130357652	130357652	+	Frame_Shift_Del	DEL	T	T	-													gtttcagcttagatcttaacTtttttttctgaggcatgcgg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:130357651_130357651CT>C	uc003vqi.3	-	5	910	c.453_453AG>G	c.(451-453)aagfs	p.K151fs	TSGA13_uc003vqj.3_Frame_Shift_Del_p.K151fs	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	151										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TAGATCTTAACTTTTTTTTCT	0.453													-	130357652	T	-	130357652	7	5	152	1	0	1	0	1	0	0	0	0	16616	1609	56	0	387	0	TSGA13	7	130357652	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	1769797	130357652	28781011	447	82264											
BPGM	669	broad.mit.edu	37	chr7	134346536	134346537	+	Frame_Shift_Ins	INS	-	-	G													tctaaatgagcgtcactatgINSgggccttgatcggtctcaac							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:134346535_134346536T>TG	uc003vrv.3	+	2	817_818	c.276_277T>TG	c.(274-279)tatgggfs	p.Y92fs	BPGM_uc003vrw.3_Frame_Shift_Ins_p.Y92fs	NM_199186	NP_954655	P07738	PMGE_HUMAN	Homo sapiens 2,3-bisphosphoglycerate mutase (BPGM), transcript variant 2, mRNA.	92					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						AGCGTCACTATGGGGCCTTGAT	0.53													G	134346537	-	G	134346536	7	5	152	1	0	1	1	0	0	0	0	0	1488	1348	47	0	279	0	BPGM	7	134346536	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	3988884	134346536	24792127	448	82265											
NUP205	23165	broad.mit.edu	37	chr7	135286176	135286176	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgtatcatctgctgaaTgagtcaccaatgttggagct	10	8	3	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:135286176T>C	uc003vsw.2	+	17	2464	c.2433T>C	c.(2431-2433)AAT>AAC	p.N811N		NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	811					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						ATCTGCTGAATGAGTCACCAA	0.408													C	135286176	T	C	135286176	2	2	152	1	0	0	0	0	0	0	0	1	10759	1461	51	3		3	NUP205	7	135286176	Silent	SNP	T	TCGA-CD-8536-01A-11D-2340-08	939640	135286176	23852487	449	82266											
CREB3L2	64764	broad.mit.edu	37	chr7	137686444	137686444	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgctccccgctctccagcAcctccatggcggtgcgggcc	11	20	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:137686444A>G	uc003vtw.2	-	1	403	c.8T>C	c.(7-9)GTG>GCG	p.V3A	CREB3L2_uc003vtx.1_Missense_Mutation_p.V3A|CREB3L2_uc003vty.3_Missense_Mutation_p.V3A|AKR1D1_uc011kqb.1_5'Flank|AKR1D1_uc011kqc.1_5'Flank|AKR1D1_uc011kqd.1_5'Flank	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like	3	Cytoplasmic (Potential).				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160						GCTCTCCAGCACCTCCATGGC	0.706			T	FUS	fibromyxoid sarcoma								G	137686444	A	G	137686444	3	3	152	1	0	0	0	0	1	0	0	0	3857	159	6	3	1602	3	CREB3L2	7	137686444	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	2400268	137686444	21452219	450	82267											
SVOPL	136306	broad.mit.edu	37	chr7	138312996	138312997	+	Frame_Shift_Ins	INS	-	-	C													ctctggctctcccctgagtcINSccccccagtcaccaccaccg					rs79662895		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:138312995_138312996T>TC	uc011kqh.2	-	9	976_977	c.976_977A>GA	c.(976-978)gacfs	p.D326fs	SVOPL_uc003vue.3_Frame_Shift_Ins_p.D174fs	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	326						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTCCCCTGAGTCCCCCCCAGTC	0.554													C	138312997	-	C	138312996	7	5	152	1	0	1	1	0	0	0	0	0	15421	855	30	0	526	0	SVOPL	7	138312996	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	626552	138312996	20825667	451	82268											
KLRG2	346689	broad.mit.edu	37	chr7	139167678	139167678	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcgtcgccgtccaacccCgcgcggggcaacagcgccgc	12	19	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:139167678C>T	uc003vvb.2	-	1	780	c.711G>A	c.(709-711)GCG>GCA	p.A237A	KLRG2_uc010lnc.2_Silent_p.A237A	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G,	237						integral to membrane	sugar binding			central_nervous_system(1)	1	Melanoma(164;0.233)					CGTCCAACCCCGCGCGGGGCA	0.741													T	139167678	C	T	139167678	2	4	152	1	0	0	0	0	0	0	0	1	8422	639	23	1		1	KLRG2	7	139167678	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	854682	139167678	19970985	452	82269											
CNTNAP2	26047	broad.mit.edu	37	chr7	147600678	147600678	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaagcccttacacttggtGggttggcaaagccaacgaga	13	9	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:147600678G>T	uc003weu.1	+	14	2636	c.2120G>T	c.(2119-2121)TGG>TTG	p.W707L		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	707	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TACACTTGGTGGGTTGGCAAA	0.512										HNSCC(39;0.1)			T	147600678	G	T	147600678	3	4	152	1	0	0	0	0	1	0	0	0	3647	1357	47	5	2174	5	CNTNAP2	7	147600678	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	8433000	147600678	11537985	453	82270											
CNTNAP2	26047	broad.mit.edu	37	chr7	148106550	148106550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggagtcaacagaaactcGgctatcattggaggtaggtg	13	6	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:148106550G>A	uc003weu.1	+	23	4299	c.3783G>A	c.(3781-3783)TCG>TCA	p.S1261S	CNTNAP2_uc003wev.1_Silent_p.S38S	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	1261	Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACAGAAACTCGGCTATCATTG	0.408										HNSCC(39;0.1)			A	148106550	G	A	148106550	2	1	152	1	0	0	0	0	0	0	0	1	3647	1103	39	1		1	CNTNAP2	7	148106550	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	505872	148106550	11032113	454	82271											
TMEM176A	55365	broad.mit.edu	37	chr7	150498659	150498659	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgggaacagccgacagtgaTgagatggccccggaggcccc	15	12	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:150498659T>C	uc003whx.1	+	2	99	c.21T>C	c.(19-21)GAT>GAC	p.D7D	TMEM176B_uc003wht.3_5'Flank|TMEM176B_uc003whu.3_5'Flank|TMEM176B_uc003whv.3_5'Flank|TMEM176B_uc003whw.3_5'Flank	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	hepatocellular carcinoma-associated antigen 112	7						integral to membrane				ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGACAGTGATGAGATGGCCC	0.577													C	150498659	T	C	150498659	2	2	152	1	0	0	0	0	0	0	0	1	16089	1461	51	3		3	TMEM176A	7	150498659	Silent	SNP	T	TCGA-CD-8536-01A-11D-2340-08	2392109	150498659	8640004	455	82272											
ABP1	26	broad.mit.edu	37	chr7	150557592	150557592	+	Frame_Shift_Del	DEL	C	C	-													tcgcctgtgcctggcaggtaCcccctggcagtgaccaagta							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:150557592delC	uc003why.1	+	5	6078	c.1860delC	c.(1858-1860)TACfs	p.Y620fs	ABP1_uc003whz.1_Frame_Shift_Del_p.Y620fs|ABP1_uc003wia.1_Frame_Shift_Del_p.Y639fs	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	620					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CTGGCAGGTACCCCCTGGCAG	0.607													-	150557592	C	-	150557592	7	5	152	1	0	1	0	1	0	0	0	0	98	518	18	0	1870	0	ABP1	7	150557592	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	58933	150557592	8581071	456	82273											
KCNH2	3757	broad.mit.edu	37	chr7	150655428	150655428	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatggctgtcacttcgtccAgggccagcgactcgctgctg	12	15	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:150655428A>G	uc003wic.2	-	4	648	c.635T>C	c.(634-636)CTG>CCG	p.L212P	KCNH2_uc003wib.2_5'Flank|KCNH2_uc011kux.1_Missense_Mutation_p.L116P|KCNH2_uc003wid.2_5'Flank|KCNH2_uc003wie.2_Missense_Mutation_p.L212P	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	212	Cytoplasmic (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CACTTCGTCCAGGGCCAGCGA	0.612													G	150655428	A	G	150655428	3	3	152	1	0	0	0	0	1	0	0	0	8032	188	7	3	3273	3	KCNH2	7	150655428	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	97836	150655428	8483235	457	82274											
SLC4A2	6522	broad.mit.edu	37	chr7	150768237	150768237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgccttcctggactgcagcGtggtgctgccgccttcagaa	12	14	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:150768237G>A	uc003wit.3	+	13	2084	c.1828G>A	c.(1828-1830)GTG>ATG	p.V610M	SLC4A2_uc011kve.1_Missense_Mutation_p.V601M|SLC4A2_uc003wiu.3_Missense_Mutation_p.V596M|SLC4A2_uc003wiv.3_5'Flank	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	610	Cytoplasmic (Potential).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGACTGCAGCGTGGTGCTGCC	0.647													A	150768237	G	A	150768237	3	1	152	1	0	0	0	0	1	0	0	0	14654	1145	40	1	1874	1	SLC4A2	7	150768237	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	112809	150768237	8370426	458	82275											
AGAP3	116988	broad.mit.edu	37	chr7	150814787	150814787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgaaatcagtttccagaCggtgtacaactacttcctgc	9	10	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:150814787C>T	uc003wjg.1	+	5	632	c.629C>T	c.(628-630)ACG>ATG	p.T210M	AGAP3_uc003wje.1_Translation_Start_Site|AGAP3_uc003wjf.1_Missense_Mutation_p.T210M|AGAP3_uc010lpy.1_Missense_Mutation_p.T210M|AGAP3_uc003wjh.1_Missense_Mutation_p.T390M	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	174	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3						AGTTTCCAGACGGTGTACAAC	0.577													T	150814787	C	T	150814787	3	4	152	1	0	0	0	0	1	0	0	0	369	536	19	1	647	1	AGAP3	7	150814787	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	46550	150814787	8323876	459	82276											
MLL3	58508	broad.mit.edu	37	chr7	151866323	151866323	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctagaaatctgatgtgtTatactgccatcctaaaataa	7	8	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:151866323T>C	uc003wla.2	-	41	9684	c.9465A>G	c.(9463-9465)ATA>ATG	p.I3155M	MLL3_uc003wkz.2_Missense_Mutation_p.I2216M|MLL3_uc003wky.2_Missense_Mutation_p.I664M	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3155	Gln-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TCTGATGTGTTATACTGCCAT	0.289			N		medulloblastoma								C	151866323	T	C	151866323	3	2	152	1	0	0	0	0	1	0	0	0	9622	1744	61	3	5346	3	MLL3	7	151866323	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	1051536	151866323	7272340	460	82277											
DPP6	1804	broad.mit.edu	37	chr7	154561183	154561183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccggatggcacgagactcGcctacgccgccatcaatgat	10	15	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:154561183G>A	uc003wlk.2	+	9	1069	c.940G>A	c.(940-942)GCC>ACC	p.A314T	DPP6_uc003wli.2_Missense_Mutation_p.A250T|DPP6_uc003wlm.2_Missense_Mutation_p.A252T|DPP6_uc011kvq.1_Missense_Mutation_p.A207T	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	314	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CACGAGACTCGCCTACGCCGC	0.522													A	154561183	G	A	154561183	3	1	152	1	0	0	0	0	1	0	0	0	4730	1087	38	1	1090	1	DPP6	7	154561183	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2694860	154561183	4577480	461	82278											
LMBR1	64327	broad.mit.edu	37	chr7	156589160	156589160	+	Frame_Shift_Del	DEL	A	A	-													tacaaataaacaaaggttggAaaaaagggaagcaagattcc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:156589160delA	uc003wmw.3	-	5	561	c.346delT	c.(346-348)TCCfs	p.S116fs	LMBR1_uc003wmv.3_5'UTR|LMBR1_uc003wmx.3_5'UTR|LMBR1_uc010lqn.2_Frame_Shift_Del_p.S116fs|LMBR1_uc011kvx.1_Frame_Shift_Del_p.S95fs	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	limb region 1 protein	116	Helical; (Potential).					integral to membrane	receptor activity				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		CAAAGGTTGGAAAAAAGGGAA	0.338													-	156589160	A	-	156589160	7	5	152	1	0	1	0	1	0	0	0	0	8840	246	9	0	1178	0	LMBR1	7	156589160	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	2027977	156589160	2549503	462	82279											
ESYT2	57488	broad.mit.edu	37	chr7	158536259	158536259	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatggtgctgtttggaccCgagttactgagctggaagcg	15	7	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:158536259C>T	uc003wob.1	-	16	1902	c.1836G>A	c.(1834-1836)TCG>TCA	p.S612S	ESYT2_uc003woc.1_Silent_p.S436S|ESYT2_uc003wny.1_5'Flank|ESYT2_uc003wnz.1_Silent_p.S51S|ESYT2_uc003woa.1_Silent_p.S189S	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain	640						integral to membrane|plasma membrane				central_nervous_system(2)|kidney(1)	3						TGTTTGGACCCGAGTTACTGA	0.592													T	158536259	C	T	158536259	2	4	152	1	0	0	0	0	0	0	0	1	5265	639	23	1		1	ESYT2	7	158536259	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1947099	158536259	602404	463	82280											
WDR60	55112	broad.mit.edu	37	chr7	158711469	158711469	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggatcgcttggcagcTgaacccagctggaatcttag	13	9	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:158711469T>C	uc003woe.3	+	15	1988	c.1830T>C	c.(1828-1830)GCT>GCC	p.A610A	WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Silent_p.A242A	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	610										ovary(2)|breast(1)|central_nervous_system(1)	4	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GCTTGGCAGCTGAACCCAGCT	0.443													C	158711469	T	C	158711469	2	2	152	1	0	0	0	0	0	0	0	1	17308	1567	55	3		3	WDR60	7	158711469	Silent	SNP	T	TCGA-CD-8536-01A-11D-2340-08	175210	158711469	427194	464	82281											
ERICH1	157697	broad.mit.edu	37	chr8	624006	624006	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttttctttgatttatgctTcctaattcttcttctctttg	3	8	4	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:624006T>A	uc003wph.2	-	4	411	c.346A>T	c.(346-348)AAG>TAG	p.K116*	ERICH1_uc011kwh.1_Nonsense_Mutation_p.K116*|ERICH1_uc003wpe.1_Nonsense_Mutation_p.K22*|ERICH1_uc003wpi.2_5'UTR	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	116										large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		GATTTATGCTTCCTAATTCTT	0.308													A	624006	T	A	624006	4	1	152	1	0	0	0	0	0	1	0	0	5230	1792	62	5	997	5	ERICH1	8	624006	Nonsense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08		624006	145740016	465	82282											
CSMD1	64478	broad.mit.edu	37	chr8	2832067	2832067	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgctccctctgcaggagtaGtgcacgacggcgccataggt	13	13	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:2832067G>C	uc011kwk.1	-	56	9039	c.8649C>G	c.(8647-8649)CAC>CAG	p.H2883Q	CSMD1_uc011kwj.1_Missense_Mutation_p.H2212Q|CSMD1_uc010lrg.2_Missense_Mutation_p.H893Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2883	Sushi 21.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCAGGAGTAGTGCACGACGG	0.577													C	2832067	G	C	2832067	3	2	152	1	0	0	0	0	1	0	0	0	3944	1020	36	5	2108	5	CSMD1	8	2832067	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2208061	2832067	143531955	466	82283											
AGPAT5	55326	broad.mit.edu	37	chr8	6612594	6612595	+	Frame_Shift_Ins	INS	-	-	A													ttctctgcaaagaatgtccaINSaaaattcatattcacattga							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:6612593_6612594C>CA	uc003wqo.3	+	6	1079_1080	c.767_768C>CA	c.(766-768)ccafs	p.P256fs	AGPAT5_uc011kwm.2_Frame_Shift_Ins_p.Q81fs	NM_018361	NP_060831	Q9NUQ2	PLCE_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon) (AGPAT5), mRNA.	256					phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		AAAGAATGTCCAAAAATTCATA	0.287													A	6612595	-	A	6612594	7	5	152	1	0	1	1	0	0	0	0	0	390	117	5	0	794	0	AGPAT5	8	6612594	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	3780527	6612594	139751428	467	82284											
CLDN23	137075	broad.mit.edu	37	chr8	8560453	8560453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctggcgctcagcttcgCgccctggtgcgacgagcgtt	14	15	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:8560453C>T	uc003wsi.2	+	1	788	c.545C>T	c.(544-546)GCG>GTG	p.A182V		NM_194284	NP_919260	Q96B33	CLD23_HUMAN	claudin 23	182	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CTCAGCTTCGCGCCCTGGTGC	0.726													T	8560453	C	T	8560453	3	4	152	1	0	0	0	0	1	0	0	0	3484	768	27	1	547	1	CLDN23	8	8560453	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1947859	8560453	137803569	468	82285											
PRSS55	203074	broad.mit.edu	37	chr8	10395995	10395995	+	Frame_Shift_Del	DEL	G	G	-													tctgcccacagggtgacagtGgggggcctctggtctgcacc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:10395994_10395994TG>T	uc003wta.3	+	4	790	c.750_750TG>T	c.(748-750)agtfs	p.S250fs	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Intron|PRSS55_uc003wtb.3_Intron	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	250	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						AGGGTGACAGTGGGGGGCCTC	0.592													-	10395995	G	-	10395995	7	5	152	1	0	1	0	1	0	0	0	0	12634	1348	47	0	769	0	PRSS55	8	10395995	Frame_Shift_Del	DEL	G	TCGA-CD-8536-01A-11D-2340-08	1835542	10395995	135968027	469	82286											
RP1L1	94137	broad.mit.edu	37	chr8	10480280	10480282	+	In_Frame_Del	DEL	GGA	GGA	-													ggggttttaagactcttccgGgaggaggaggtgcctggggc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:10480279_10480281GGGA>G	uc003wtc.3	-	1	660_662	c.431_433TCCC>C	c.(430-435)tcccgg>tCgg	p.R145del		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	145					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGACTCTTCCGGGAGGAGGAGGT	0.586													-	10480282	GGA	-	10480280	7	5	152	1	0	1	0	1	0	0	0	0	13533	1219	43	0	6782	0	RP1L1	8	10480280	In_Frame_Del	DEL	GGA	TCGA-CD-8536-01A-11D-2340-08	84285	10480280	135883742	470	82287											
EFHA2	286097	broad.mit.edu	37	chr8	16921653	16921653	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccacatctcgggagaggCgatttcgtttatttgcttct	10	9	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:16921653C>T	uc003wxd.2	+	2	484	c.442C>T	c.(442-444)CGA>TGA	p.R148*		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	148						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		TCGGGAGAGGCGATTTCGTTT	0.383													T	16921653	C	T	16921653	4	4	152	1	0	0	0	0	0	1	0	0	4944	760	27	1	448	1	EFHA2	8	16921653	Nonsense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	6441373	16921653	129442369	471	82288											
PSD3	23362	broad.mit.edu	37	chr8	18490209	18490210	+	Frame_Shift_Ins	INS	-	-	A													tggatcatgaggaatgtccaINSaaaatgggttagtagtactt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:18490208_18490209C>CA	uc003wza.3	-	10	2427_2428	c.2324_2325G>TG	c.(2323-2325)ttgfs	p.L775fs	PSD3_uc003wyx.4_Frame_Shift_Ins_p.L104fs|PSD3_uc003wyy.3_Frame_Shift_Ins_p.L241fs|PSD3_uc003wyz.3_Frame_Shift_Ins_p.L76fs	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	776					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GAGGAATGTCCAAAAATGGGTT	0.406													A	18490210	-	A	18490209	7	5	152	1	0	1	1	0	0	0	0	0	12648	131	5	0	843	0	PSD3	8	18490209	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	1568556	18490209	127873813	472	82289											
SLC18A1	6570	broad.mit.edu	37	chr8	20007219	20007219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtacctactaccagcatccCgattagggaacacagccacc	8	15	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:20007219C>T	uc011kyq.1	-	13	1585	c.1114G>A	c.(1114-1116)GGG>AGG	p.G372R	SLC18A1_uc003wzl.2_Missense_Mutation_p.G159R|SLC18A1_uc003wzm.2_Missense_Mutation_p.G372R|SLC18A1_uc011kyr.1_Missense_Mutation_p.G372R|SLC18A1_uc003wzn.2_Missense_Mutation_p.G340R|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Missense_Mutation_p.G340R	NM_001135691	NP_001129163	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine),	372	Helical; (Potential).				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			ovary(2)	2				Colorectal(74;0.0747)		ACCAGCATCCCGATTAGGGAA	0.443													T	20007219	C	T	20007219	3	4	152	1	0	0	0	0	1	0	0	0	14425	652	23	1	483	1	SLC18A1	8	20007219	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1517010	20007219	126356803	473	82290											
C8orf58	541565	broad.mit.edu	37	chr8	22458739	22458739	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggctcccaacagctcccAccagcttgtcaggacaacac	8	18	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:22458739A>G	uc003xce.2	+	2	497	c.385A>G	c.(385-387)ACC>GCC	p.T129A	C8orf58_uc011kzl.1_Missense_Mutation_p.T129A|C8orf58_uc003xcf.2_Missense_Mutation_p.T129A	NM_001013842	NP_001013864	Q8NAV2	CH058_HUMAN	hypothetical protein LOC541565	129										skin(1)	1		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		AACAGCTCCCACCAGCTTGTC	0.667													G	22458739	A	G	22458739	3	3	152	1	0	0	0	0	1	0	0	0	2433	159	6	3	391	3	C8orf58	8	22458739	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	2451520	22458739	123905283	474	82291											
DOCK5	80005	broad.mit.edu	37	chr8	25199952	25199952	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attcattcaaagcattcctgAcaaccagctggttcggcaga	8	11	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:25199952A>T	uc003xeg.2	+	25	2683	c.2546A>T	c.(2545-2547)GAC>GTC	p.D849V	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.D563V|DOCK5_uc003xei.2_Missense_Mutation_p.D419V|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	849						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGCATTCCTGACAACCAGCTG	0.433													T	25199952	A	T	25199952	3	4	152	1	0	0	0	0	1	0	0	0	4690	275	10	5	2644	5	DOCK5	8	25199952	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	2741213	25199952	121164070	475	82292											
KCTD9	54793	broad.mit.edu	37	chr8	25290076	25290076	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttacagttcttcaactttgCattttttaaggtagccactc	6	9	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:25290076C>G	uc003xeo.2	-	11	1155	c.997G>C	c.(997-999)GCA>CCA	p.A333P	PPP2R2A_uc003xek.2_Intron|KCTD9_uc011lad.1_RNA	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	potassium channel tetramerisation domain	333	Pentapeptide repeat 2.					voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		TTCAACTTTGCATTTTTTAAG	0.403													G	25290076	C	G	25290076	3	3	152	1	0	0	0	0	1	0	0	0	8116	710	25	5	180	5	KCTD9	8	25290076	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	90124	25290076	121073946	476	82293											
PTK2B	2185	broad.mit.edu	37	chr8	27297930	27297930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgaccccagtgaccggcccCgcttcaccgagctggtgtgc	12	17	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:27297930C>T	uc003xfn.1	+	26	2819	c.2011C>T	c.(2011-2013)CGC>TGC	p.R671C	PTK2B_uc003xfo.1_Missense_Mutation_p.R671C|PTK2B_uc003xfp.1_Missense_Mutation_p.R671C|PTK2B_uc003xfq.1_Missense_Mutation_p.R671C|PTK2B_uc003xfr.1_Missense_Mutation_p.R417C	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	671	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TGACCGGCCCCGCTTCACCGA	0.652													T	27297930	C	T	27297930	3	4	152	1	0	0	0	0	1	0	0	0	12763	652	23	1	2089	1	PTK2B	8	27297930	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	2007854	27297930	119066092	477	82294											
SCARA5	286133	broad.mit.edu	37	chr8	27779548	27779548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcctgcagcccccacagCgcgccctccagccgctgcac	10	22	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:27779548C>T	uc003xgj.2	-	4	896	c.456G>A	c.(454-456)GCG>GCA	p.A152A	SCARA5_uc010luz.2_Intron|SCARA5_uc003xgk.2_Silent_p.A109A|SCARA5_uc003xgl.2_Silent_p.A152A	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	152	Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCCCCCACAGCGCGCCCTCCA	0.726													T	27779548	C	T	27779548	2	4	152	1	0	0	0	0	0	0	0	1	13880	755	27	1		1	SCARA5	8	27779548	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	481618	27779548	118584474	478	82295											
KIF13B	23303	broad.mit.edu	37	chr8	28956670	28956670	+	Frame_Shift_Del	DEL	T	T	-													ctggatctggagaatggttaTtttggggagaaacagagagg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:28956669_28956669AT>A	uc003xhh.4	-	35	4364	c.4305_4305AT>T	c.(4303-4305)aatfs	p.N1435fs	KIF13B_uc011laz.2_5'UTR	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	1435					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GAGAATGGTTATTTTGGGGAG	0.448													-	28956670	T	-	28956670	7	5	152	1	0	1	0	1	0	0	0	0	8275	1493	52	0	1196	0	KIF13B	8	28956670	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	1177122	28956670	117407352	479	82296											
TEX15	56154	broad.mit.edu	37	chr8	30700523	30700523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctcaaggtgagatcctgtAattttttaaggtctgcaaat	8	6	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:30700523A>G	uc003xil.2	-	1	6011	c.6011T>C	c.(6010-6012)TTA>TCA	p.L2004S		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2004										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GAGATCCTGTAATTTTTTAAG	0.289													G	30700523	A	G	30700523	3	3	152	1	0	0	0	0	1	0	0	0	15776	372	13	3	2374	3	TEX15	8	30700523	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	1743853	30700523	115663499	480	82297											
WHSC1L1	54904	broad.mit.edu	37	chr8	38187222	38187223	+	Frame_Shift_Ins	INS	-	-	T													acagatcttggtcgtcgggtINSttttttaacttcggttttgg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:38187221_38187222G>GT	uc003xli.3	-	5	1773_1774	c.1255_1256C>AC	c.(1255-1257)accfs	p.T419fs	WHSC1L1_uc011lbm.2_Frame_Shift_Ins_p.T419fs|WHSC1L1_uc010lwe.3_Frame_Shift_Ins_p.T419fs|WHSC1L1_uc003xlj.3_Frame_Shift_Ins_p.T419fs	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	419					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGGTCGTCGGGTTTTTTTAACT	0.431			T	NUP98	AML								T	38187223	-	T	38187222	7	5	152	1	0	1	1	0	0	0	0	0	17360	1725	60	0	3221	0	WHSC1L1	8	38187222	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	7486699	38187222	108176800	481	82298											
MYST3	7994	broad.mit.edu	37	chr8	41790166	41790166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggcgcagacttggagcGgatggaaatgtgccccttca	14	10	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:41790166G>A	uc010lxb.2	-	18	6116	c.5572C>T	c.(5572-5574)CGC>TGC	p.R1858C	MYST3_uc010lxc.2_Missense_Mutation_p.R1858C|MYST3_uc003xon.3_Missense_Mutation_p.R1858C	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1858					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			GACTTGGAGCGGATGGAAATG	0.592													A	41790166	G	A	41790166	3	1	152	1	0	0	0	0	1	0	0	0	10104	1116	39	1	446	1	MYST3	8	41790166	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	3602944	41790166	104573856	482	82299											
RP1	6101	broad.mit.edu	37	chr8	55540279	55540280	+	Frame_Shift_Ins	INS	-	-	T													catgtaaccccagtgacactINSttttttcctagtgatggtta							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:55540278_55540279C>CT	uc003xsd.1	+	3	3984_3985	c.3836_3837C>CT	c.(3835-3837)actfs	p.T1279fs	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1279					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCCAGTGACACTTTTTTTCCTA	0.416													T	55540280	-	T	55540279	7	5	152	1	0	1	1	0	0	0	0	0	13532	1596	56	0	3847	0	RP1	8	55540279	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	13750113	55540279	90823743	483	82300											
CLVS1	157807	broad.mit.edu	37	chr8	62412012	62412012	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttccctcccctcttgttAgatctcagtctgtggtagaa	7	11	3	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:62412012A>G	uc003xuh.2	+	6	1302	c.978_splice	c.e6-2	p.R326_splice	CLVS1_uc003xui.2_Splice_Site|CLVS1_uc010lyp.2_Splice_Site_p.I248_splice	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	retinaldehyde binding protein 1-like 1						lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			skin(4)|ovary(1)	5						CCCTCTTGTTAGATCTCAGTC	0.433													G	62412012	A	G	62412012	5	3	152	1	0	0	0	0	0	0	1	0	3571	434	15	3	994	3	CLVS1	8	62412012	Splice_Site	SNP	A	TCGA-CD-8536-01A-11D-2340-08	6871733	62412012	83952010	484	82301											
YTHDF3	253943	broad.mit.edu	37	chr8	64099255	64099255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatagtgtgcccccagttaGcagtgcagcacctaaaccaa	8	13	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:64099255G>A	uc003xuy.2	+	5	1002	c.686G>A	c.(685-687)AGC>AAC	p.S229N	YTHDF3_uc010lys.2_Missense_Mutation_p.S173N|YTHDF3_uc003xuz.2_Missense_Mutation_p.S173N|YTHDF3_uc003xva.2_Missense_Mutation_p.S173N|YTHDF3_uc011len.1_Missense_Mutation_p.S173N	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	229											0	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			CCCCCAGTTAGCAGTGCAGCA	0.512													A	64099255	G	A	64099255	3	1	152	1	0	0	0	0	1	0	0	0	17497	971	34	2	699	2	YTHDF3	8	64099255	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1687243	64099255	82264767	485	82302											
DNAJC5B	85479	broad.mit.edu	37	chr8	66988980	66988980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaatcaacaacgcccacGcaatacttaccgacatttca	4	13	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:66988980G>A	uc003xvs.1	+	4	496	c.205G>A	c.(205-207)GCA>ACA	p.A69T	DNAJC5B_uc003xvt.1_RNA	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	69	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding				0		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			CAACGCCCACGCAATACTTAC	0.428													A	66988980	G	A	66988980	3	1	152	1	0	0	0	0	1	0	0	0	4651	1087	38	1	211	1	DNAJC5B	8	66988980	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2889725	66988980	79375042	486	82303											
VCPIP1	80124	broad.mit.edu	37	chr8	67578046	67578046	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtactttttaataaggTcctgaggcacaccccatgct	7	10	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:67578046T>C	uc003xwn.2	-	1	1407	c.1148A>G	c.(1147-1149)GAC>GGC	p.D383G	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	383					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTTAATAAGGTCCTGAGGCAC	0.423													C	67578046	T	C	67578046	3	2	152	1	0	0	0	0	1	0	0	0	17138	1667	58	3	2532	3	VCPIP1	8	67578046	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	589066	67578046	78785976	487	82304											
TRPA1	8989	broad.mit.edu	37	chr8	72981376	72981376	+	Frame_Shift_Del	DEL	T	T	-													acttaacgctttcaatttggTttttttctacagcacaatgc					rs61753713	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:72981375_72981375GT>G	uc003xza.3	-	2	502	c.327_327AC>C	c.(325-327)aacfs	p.N109fs		NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	109						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTTCAATTTGGTTTTTTTCTA	0.403													-	72981376	T	-	72981376	7	5	152	1	0	1	0	1	0	0	0	0	16574	1725	60	0	3133	0	TRPA1	8	72981376	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	5403330	72981376	73382646	488	82305											
CA13	377677	broad.mit.edu	37	chr8	86178909	86178909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgaaccagatggactgGctgtcttgggagtgttttta	12	7	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:86178909G>A	uc003ydg.2	+	4	769	c.427G>A	c.(427-429)GCT>ACT	p.A143T	CA13_uc003ydf.1_RNA	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	143					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0						AGATGGACTGGCTGTCTTGGG	0.418													A	86178909	G	A	86178909	3	1	152	1	0	0	0	0	1	0	0	0	2514	1203	42	2	441	2	CA13	8	86178909	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	13197533	86178909	60185113	489	82306											
CNGB3	54714	broad.mit.edu	37	chr8	87656088	87656088	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataaacagcaagtatccagTtgttcgaataactctgtcag	7	8	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:87656088T>C	uc003ydx.2	-	10	1115	c.1069A>G	c.(1069-1071)ACT>GCT	p.T357A	CNGB3_uc010maj.2_Missense_Mutation_p.T219A	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	357	Extracellular (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						AAGTATCCAGTTGTTCGAATA	0.363													C	87656088	T	C	87656088	3	2	152	1	0	0	0	0	1	0	0	0	3601	1725	60	3	1396	3	CNGB3	8	87656088	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	1477179	87656088	58707934	490	82307											
NBN	4683	broad.mit.edu	37	chr8	90958480	90958480	+	Frame_Shift_Del	DEL	T	T	-													taaattcagtcaataacagcTtttttggaagcatctcacta							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:90958479_90958479CT>C	uc003yej.1	-	12	2069	c.1959_1959AG>G	c.(1957-1959)aagfs	p.K653fs	NBN_uc011lgb.1_Frame_Shift_Del_p.K653fs|NBN_uc003yei.1_Frame_Shift_Del_p.K571fs	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	653					DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TCAATAACAGCTTTTTTGGAA	0.323								Homologous recombination					-	90958480	T	-	90958480	7	5	152	1	0	1	0	1	0	0	0	0	10191	1609	56	0	322	0	NBN	8	90958480	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	3302392	90958480	55405542	491	82308											
NBN	4683	broad.mit.edu	37	chr8	90965628	90965628	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtccttgaataactgttcCaatacttcatcttctatggc	6	10	3	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:90965628C>A	uc003yej.1	-	11	1799	c.1689G>T	c.(1687-1689)TTG>TTT	p.L563F	NBN_uc003yei.1_Missense_Mutation_p.L481F|NBN_uc011lgb.1_Missense_Mutation_p.L563F	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	563					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATAACTGTTCCAATACTTCAT	0.353								Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome				A	90965628	C	A	90965628	3	1	152	1	0	0	0	0	1	0	0	0	10191	593	21	5	599	5	NBN	8	90965628	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	7148	90965628	55398394	492	82309											
TMEM64	169200	broad.mit.edu	37	chr8	91643842	91643842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgacatcttccattgtccGcagggtggtacccaagtaag	10	10	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:91643842G>A	uc003yen.2	-	2	889	c.889C>T	c.(889-891)CGG>TGG	p.R297W	TMEM64_uc003yeo.2_Missense_Mutation_p.R36W|TMEM64_uc011lgf.1_Intron	NM_001008495	NP_001008495	Q6YI46	TMM64_HUMAN	transmembrane protein 64 isoform 1	297						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(11;0.0598)			TCCATTGTCCGCAGGGTGGTA	0.423													A	91643842	G	A	91643842	3	1	152	1	0	0	0	0	1	0	0	0	16190	1086	38	1	261	1	TMEM64	8	91643842	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	678214	91643842	54720180	493	82310											
CTHRC1	115908	broad.mit.edu	37	chr8	104388033	104388033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggagccctggggccaatgGcattccgggtacacctggga	16	12	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:104388033G>A	uc003ylk.2	+	2	317	c.218G>A	c.(217-219)GGC>GAC	p.G73D	CTHRC1_uc011lhq.1_Missense_Mutation_p.G73D	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	73	Collagen-like.			G -> V (in Ref. 3; AAQ89273).		collagen				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GGGGCCAATGGCATTCCGGGT	0.517													A	104388033	G	A	104388033	3	1	152	1	0	0	0	0	1	0	0	0	4010	1203	42	2	224	2	CTHRC1	8	104388033	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	12744191	104388033	41975989	494	82311											
DCAF13	25879	broad.mit.edu	37	chr8	104432575	104432575	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatgctaccaaactggaaCgagtatttgcaaaaccattc	6	9	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:104432575C>T	uc003yln.2	+	2	887	c.610C>T	c.(610-612)CGA>TGA	p.R204*	DCAF13_uc003ylm.1_Intron|DCAF13_uc003ylo.2_Translation_Start_Site	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	52					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						CAAACTGGAACGAGTATTTGC	0.428													T	104432575	C	T	104432575	4	4	152	1	0	0	0	0	0	1	0	0	4266	528	19	1	616	1	DCAF13	8	104432575	Nonsense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	44542	104432575	41931447	495	82312											
RIMS2	9699	broad.mit.edu	37	chr8	104922413	104922413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttggcatagcagtgaggCatccccaatgtctttggtga	12	9	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:104922413C>T	uc003yls.2	+	3	1251	c.1010C>T	c.(1009-1011)GCA>GTA	p.A337V	RIMS2_uc003ylp.2_Missense_Mutation_p.A559V|RIMS2_uc003ylw.2_Missense_Mutation_p.A367V|RIMS2_uc003ylq.2_Missense_Mutation_p.A367V|RIMS2_uc003ylr.2_Intron|RIMS2_uc003ylt.2_5'Flank	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGCAGTGAGGCATCCCCAATG	0.388										HNSCC(12;0.0054)			T	104922413	C	T	104922413	3	4	152	1	0	0	0	0	1	0	0	0	13368	710	25	2	1820	2	RIMS2	8	104922413	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	489838	104922413	41441609	496	82313											
TM7SF4	81501	broad.mit.edu	37	chr8	105361069	105361069	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcgtgaaggcaggaatGctttgattgcagctggcaca	14	9	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:105361069G>T	uc003ylx.1	+	2	338	c.289G>T	c.(289-291)GCT>TCT	p.A97S		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	97					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGGCAGGAATGCTTTGATTGC	0.448													T	105361069	G	T	105361069	3	4	152	1	0	0	0	0	1	0	0	0	15973	1319	46	5	291	5	TM7SF4	8	105361069	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	438656	105361069	41002953	497	82314											
EXT1	2131	broad.mit.edu	37	chr8	118831994	118831994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagaccaggggggtcaccGcatggatgactgcagtgaat	16	8	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:118831994G>A	uc003yok.1	-	6	2230	c.1457C>T	c.(1456-1458)GCG>GTG	p.A486V		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	486	Lumenal (Potential).		A -> V (in EXT1; no loss of activity).	Missing: No effect on heparan-sulfate biosynthesis.|A->H: No effect on heparan-sulfate biosynthesis.	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GGGGGTCACCGCATGGATGAC	0.517			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				A	118831994	G	A	118831994	3	1	152	1	0	0	0	0	1	0	0	0	5323	1087	38	1	807	1	EXT1	8	118831994	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	13470925	118831994	27532028	498	82315											
COL14A1	7373	broad.mit.edu	37	chr8	121344953	121344953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcacaggaagcatgggaccGcaaggcgccctgggaccacc	13	14	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:121344953G>A	uc003yox.2	+	42	5029	c.4764G>A	c.(4762-4764)CCG>CCA	p.P1588P	COL14A1_uc003yoz.2_Silent_p.P553P	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1588	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCATGGGACCGCAAGGCGCCC	0.507													A	121344953	G	A	121344953	2	1	152	1	0	0	0	0	0	0	0	1	3671	1074	38	1		1	COL14A1	8	121344953	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2512959	121344953	25019069	499	82316											
KCNQ3	3786	broad.mit.edu	37	chr8	133142050	133142050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagctgtagggtggttccGgggggcctgtctcagaatag	18	7	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:133142050G>A	uc003ytj.2	-	15	2303	c.2078C>T	c.(2077-2079)CCG>CTG	p.P693L	KCNQ3_uc010mdt.2_Missense_Mutation_p.P681L	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	693					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGGTGGTTCCGGGGGGCCTGT	0.547													A	133142050	G	A	133142050	3	1	152	1	0	0	0	0	1	0	0	0	8084	1116	39	1	544	1	KCNQ3	8	133142050	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	11797097	133142050	13221972	500	82317											
FAM135B	51059	broad.mit.edu	37	chr8	139158296	139158296	+	Splice_Site	DEL	A	A	-													ggaggtctgcactgttccctAaaaatgacagataaccccca							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:139158295_139158295TA>T	uc003yuy.3	-	15	3620	c.3449_splice	c.e15-1	p.G1150_splice	FAM135B_uc003yux.3_Splice_Site_p.G1051_splice|FAM135B_uc003yuz.3_Splice_Site|FAM135B_uc003yva.3_Splice_Site_p.G712_splice|FAM135B_uc003yvb.3_Splice_Site_p.W677_splice	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1150										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACTGTTCCCTAAAAATGACA	0.448										HNSCC(54;0.14)			-	139158296	A	-	139158296	8	5	152	1	0	1	0	1	0	0	1	0	5449	377	13	0		0	FAM135B	8	139158296	Splice_Site	DEL	A	TCGA-CD-8536-01A-11D-2340-08	6016246	139158296	7205726	501	82318											
SLC45A4	57210	broad.mit.edu	37	chr8	142221621	142221621	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcccaaggacagggctgccCtgggcacaatgtgtccaact	12	13	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:142221621C>A	uc003ywd.1	-	8	2625	c.2317G>T	c.(2317-2319)GGG>TGG	p.G773W	SLC45A4_uc003ywc.1_3'UTR|SLC45A4_uc010meq.1_3'UTR	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	Error:Variant_position_missing_in_Q5BKX6_after_alignment					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGGGCTGCCCTGGGCACAAT	0.512													A	142221621	C	A	142221621	3	1	152	1	0	0	0	0	1	0	0	0	14643	681	24	5	83	5	SLC45A4	8	142221621	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	3063325	142221621	4142401	502	82319											
SLC45A4	57210	broad.mit.edu	37	chr8	142228980	142228980	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggctgtactgctcctcgtcGatgctgaacaggtgcagggc	15	11	0	1	rs143410648		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:142228980G>A	uc003ywd.1	-	4	914	c.606C>T	c.(604-606)ATC>ATT	p.I202I	SLC45A4_uc003ywc.1_Silent_p.I202I|SLC45A4_uc010meq.1_Silent_p.I200I	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	253	Helical; (Potential).				transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCTCCTCGTCGATGCTGAACA	0.667													A	142228980	G	A	142228980	2	1	152	1	0	0	0	0	0	0	0	1	14643	1048	37	1		1	SLC45A4	8	142228980	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	7359	142228980	4135042	503	82320											
CYP11B2	1585	broad.mit.edu	37	chr8	143994722	143994722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggtctccttgagggccGcccgcagcaagggcagctcg	15	14	1	1	rs149902981		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:143994722G>A	uc003yxk.1	-	6	1103	c.1100C>T	c.(1099-1101)GCG>GTG	p.A367V		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	367					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CTTGAGGGCCGCCCGCAGCAA	0.687									Familial_Hyperaldosteronism_type_I				A	143994722	G	A	143994722	3	1	152	1	0	0	0	0	1	0	0	0	4146	1087	38	1	427	1	CYP11B2	8	143994722	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1765742	143994722	2369300	504	82321											
ZNF707	286075	broad.mit.edu	37	chr8	144776030	144776030	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccaagcccacggctttccCgtgtcaggtgctcacgcagc	11	17	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:144776030C>A	uc003yze.3	+	7	761	c.446C>A	c.(445-447)CCG>CAG	p.P149Q	ZNF707_uc010mfh.2_Missense_Mutation_p.P149Q|ZNF707_uc010mfi.2_Missense_Mutation_p.P149Q|ZNF707_uc003yzf.3_Missense_Mutation_p.P149Q|ZNF707_uc003yzh.3_Missense_Mutation_p.P76Q|ZNF707_uc011lkq.1_RNA	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	zinc finger protein 707	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACGGCTTTCCCGTGTCAGGTG	0.652													A	144776030	C	A	144776030	3	1	152	1	0	0	0	0	1	0	0	0	18108	652	23	5	460	5	ZNF707	8	144776030	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	781308	144776030	1587992	505	82322											
PLEC	5339	broad.mit.edu	37	chr8	144990643	144990643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccatgctgcggtccagcGcgtccttataggagatcttg	11	13	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:144990643G>A	uc003zaf.1	-	32	13927	c.13757C>T	c.(13756-13758)GCG>GTG	p.A4586V	PLEC_uc003zab.1_Missense_Mutation_p.A4449V|PLEC_uc003zac.1_Missense_Mutation_p.A4453V|PLEC_uc003zad.2_Missense_Mutation_p.A4449V|PLEC_uc003zae.1_Missense_Mutation_p.A4417V|PLEC_uc003zag.1_Missense_Mutation_p.A4427V|PLEC_uc003zah.2_Missense_Mutation_p.A4435V|PLEC_uc003zaj.2_Missense_Mutation_p.A4476V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4586	Globular 2.|Plectin 33.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCGGTCCAGCGCGTCCTTATA	0.657													A	144990643	G	A	144990643	3	1	152	1	0	0	0	0	1	0	0	0	12052	1087	38	1	301	1	PLEC	8	144990643	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	214613	144990643	1373379	506	82323											
CPSF1	29894	broad.mit.edu	37	chr8	145619858	145619858	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgggtgggactggcacaCcttctggccgatggccgaca	15	14	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:145619858C>T	uc003zcj.2	-	31	3642	c.3567_splice	c.e31+1	p.K1189_splice	MIR939_hsa-mir-939|MI0005761_5'Flank	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,						mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GACTGGCACACCTTCTGGCCG	0.662													T	145619858	C	T	145619858	5	4	152	1	0	0	0	0	0	0	1	0	3824	521	18	4	795	4	CPSF1	8	145619858	Splice_Site	SNP	C	TCGA-CD-8536-01A-11D-2340-08	629215	145619858	744164	507	82324											
ARHGAP39	80728	broad.mit.edu	37	chr8	145772647	145772647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttctcctgctgggccagcGcctcgtcctcgctgaaggcc	12	16	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:145772647G>A	uc003zdt.1	-	6	2378	c.1823C>T	c.(1822-1824)GCG>GTG	p.A608V	ARHGAP39_uc011llk.1_Missense_Mutation_p.A608V|ARHGAP39_uc003zds.1_Missense_Mutation_p.A608V	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	608					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						CTGGGCCAGCGCCTCGTCCTC	0.682													A	145772647	G	A	145772647	3	1	152	1	0	0	0	0	1	0	0	0	884	1087	38	1	1553	1	ARHGAP39	8	145772647	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	152789	145772647	591375	508	82325											
KANK1	23189	broad.mit.edu	37	chr9	711335	711335	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggccagttttggaggcaTgggcaccacaagctccctcc	12	14	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:711335T>C	uc003zgl.1	+	7	1218	c.569T>C	c.(568-570)ATG>ACG	p.M190T	KANK1_uc003zgm.2_Missense_Mutation_p.M190T|KANK1_uc003zgn.1_Missense_Mutation_p.M190T|KANK1_uc003zgo.1_Missense_Mutation_p.M190T|KANK1_uc003zgp.1_Missense_Mutation_p.M190T|KANK1_uc003zgq.2_Missense_Mutation_p.M32T|KANK1_uc003zgr.1_Missense_Mutation_p.M32T|KANK1_uc003zgs.1_Missense_Mutation_p.M32T	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	190					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTTGGAGGCATGGGCACCACA	0.542													C	711335	T	C	711335	3	2	152	1	0	0	0	0	1	0	0	0	7976	1464	51	3	575	3	KANK1	9	711335	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08		711335	140502096	509	82326											
HAUS6	54801	broad.mit.edu	37	chr9	19058441	19058441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgggagagtttcgtgtaatAtgccaaaatcattatcttta	8	7	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:19058441A>G	uc003znk.2	-	16	2577	c.2324T>C	c.(2323-2325)ATA>ACA	p.I775T	HAUS6_uc011lmz.1_Missense_Mutation_p.I495T|HAUS6_uc003znl.1_Missense_Mutation_p.I639T	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	775					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2						TTCGTGTAATATGCCAAAATC	0.338													G	19058441	A	G	19058441	3	3	152	1	0	0	0	0	1	0	0	0	6970	449	16	3	551	3	HAUS6	9	19058441	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	18347106	19058441	122154990	510	82327											
TEK	7010	broad.mit.edu	37	chr9	27190548	27190549	+	Frame_Shift_Ins	INS	-	-	C													cttccaaagcccctgaatgcINScccaaacgtgattgacactg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:27190547_27190548G>GC	uc011lno.2	+	8	1661_1662	c.1219_1220G>GC	c.(1219-1221)gccfs	p.A407fs	TEK_uc003zqi.4_Frame_Shift_Ins_p.A450fs|TEK_uc011lnp.2_Frame_Shift_Ins_p.A303fs|TEK_uc003zqj.1_Frame_Shift_Ins_p.A384fs	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	450	Ig-like C2-type 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GCCCCTGAATGCCCCAAACGTG	0.421													C	27190549	-	C	27190548	7	5	152	1	0	1	1	0	0	0	0	0	15748	739	26	0	1387	0	TEK	9	27190548	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	8132107	27190548	114022883	511	82328											
C9orf11	54586	broad.mit.edu	37	chr9	27296739	27296739	+	Splice_Site	DEL	A	A	-													gtagcacattaggcaatgctAaaaaaaagtatcacacacca							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:27296738_27296738TA>T	uc003zql.3	-	2	161	c.77_splice	c.e2-1	p.A26_splice	C9orf11_uc011lnq.2_Splice_Site_p.A26_splice|C9orf11_uc003zqm.3_Splice_Site_p.A26_splice	NM_020641	NP_065692	Q9NQ60	AFAF_HUMAN	Homo sapiens chromosome 9 open reading frame 11 (C9orf11), transcript variant 1, mRNA.	26						acrosomal membrane|integral to membrane				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	17				OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106)		TAGGCAATGCTAAAAAAAAGT	0.323													-	27296739	A	-	27296739	8	5	152	1	0	1	0	1	0	0	1	0	2448	377	13	0		0	C9orf11	9	27296739	Splice_Site	DEL	A	TCGA-CD-8536-01A-11D-2340-08	106191	27296739	113916692	512	82329											
TOPORS	10210	broad.mit.edu	37	chr9	32542036	32542036	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtttccatccaattttgaTgaagatttttggtaatgact	7	5	0	4			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:32542036T>C	uc003zrb.2	-	3	2654	c.2487A>G	c.(2485-2487)TCA>TCG	p.S829S	TOPORS_uc003zrc.2_Silent_p.S762S	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	829	Interaction with TOP1.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CCAATTTTGATGAAGATTTTT	0.398													C	32542036	T	C	32542036	2	2	152	1	0	0	0	0	0	0	0	1	16367	1451	51	3		3	TOPORS	9	32542036	Silent	SNP	T	TCGA-CD-8536-01A-11D-2340-08	5245297	32542036	108671395	513	82330											
ENHO	375704	broad.mit.edu	37	chr9	34521482	34521482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagggctgcagcaggtagCtgccttcatggctgggcttc	14	11	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:34521482C>T	uc003zun.1	-	2	636	c.212G>A	c.(211-213)AGC>AAC	p.S71N	ENHO_uc003zuo.2_Intron	NM_198573	NP_940975	Q6UWT2	ENHO_HUMAN	adropin precursor	71						extracellular region					0						CAGCAGGTAGCTGCCTTCATG	0.617													T	34521482	C	T	34521482	3	4	152	1	0	0	0	0	1	0	0	0	5119	797	28	2	22	2	ENHO	9	34521482	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1979446	34521482	106691949	514	82331											
CCL19	6363	broad.mit.edu	37	chr9	34690262	34690262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtagtggaagttcctcaCgatgtacccagggatgggtt	14	7	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:34690262C>T	uc003zvn.2	-	2	265	c.127G>A	c.(127-129)GTG>ATG	p.V43M	CCL19_uc010mkf.2_RNA	NM_006274	NP_006265	Q99731	CCL19_HUMAN	small inducible cytokine A19 precursor	43					activation of JUN kinase activity|cell communication|cell maturation|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|interleukin-12 secretion|myeloid dendritic cell chemotaxis|negative regulation of leukocyte apoptosis|positive regulation of Cdc42 GTPase activity|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB import into nucleus|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of receptor-mediated endocytosis|positive regulation of T cell proliferation|positive regulation of T-helper 1 cell differentiation|positive regulation of tumor necrosis factor production|regulation of cell projection assembly|release of sequestered calcium ion into cytosol|response to nitric oxide|response to prostaglandin E stimulus|response to virus|T cell costimulation	extracellular space	CCR10 chemokine receptor binding|CCR7 chemokine receptor binding|chemokine activity				0	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		AAGTTCCTCACGATGTACCCA	0.557													T	34690262	C	T	34690262	3	4	152	1	0	0	0	0	1	0	0	0	2890	536	19	1	181	1	CCL19	9	34690262	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	168780	34690262	106523169	515	82332											
PIGO	84720	broad.mit.edu	37	chr9	35092523	35092523	+	Frame_Shift_Del	DEL	C	C	-													aagcagccaagagagcagtaCcccccgccatgcggaccaga							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:35092522_35092522AC>A	uc003zwd.3	-	6	1758	c.1362_1362GT>T	c.(1360-1362)ggtfs	p.G454fs	PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Frame_Shift_Del_p.G17fs	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	454					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGAGAGCAGTACCCCCCGCCA	0.592													-	35092523	C	-	35092523	7	5	152	1	0	1	0	1	0	0	0	0	11894	507	18	0	1928	0	PIGO	9	35092523	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	402261	35092523	106120908	516	82333											
CREB3	10488	broad.mit.edu	37	chr9	35736698	35736698	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactggtagcccctctgtcaTtttgcaggacagatactcag	9	11	3	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:35736698T>C	uc003zxv.2	+	9	1544	c.1091T>C	c.(1090-1092)ATT>ACT	p.I364T	CREB3_uc010mla.2_Missense_Mutation_p.I283T	NM_006368	NP_006359	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	388	Lumenal (Potential).				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|integral to membrane|nucleus|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity				0	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CCCTCTGTCATTTTGCAGGAC	0.567											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	35736698	T	C	35736698	3	2	152	1	0	0	0	0	1	0	0	0	3855	1493	52	3	1125	3	CREB3	9	35736698	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	644175	35736698	105476733	517	82334											
RECK	8434	broad.mit.edu	37	chr9	36112383	36112383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagtgcctgcattgctcGctgtgtgggcctccaagacc	11	16	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:36112383G>A	uc003zyv.2	+	16	2056	c.1970G>A	c.(1969-1971)CGC>CAC	p.R657H	RECK_uc003zyw.2_Missense_Mutation_p.R529H|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	657	Kazal-like 1.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TGCATTGCTCGCTGTGTGGGC	0.498													A	36112383	G	A	36112383	3	1	152	1	0	0	0	0	1	0	0	0	13200	1087	38	1	2032	1	RECK	9	36112383	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	375685	36112383	105101048	518	82335											
PGM5	5239	broad.mit.edu	37	chr9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattattggacagaatggcAtcttgtcgacacctgcggtc	11	9	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478													G	70993145	A	G	70993145	3	3	152	1	0	0	0	0	1	0	0	0	11801	217	8	3	298	3	PGM5	9	70993145	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	34880762	70993145	70220286	519	82336											
TJP2	9414	broad.mit.edu	37	chr9	71849361	71849361	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccttcctaataggtgaacAcacaggatttcagaggatta	8	8	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:71849361A>G	uc004ahe.2	+	12	1878	c.1678A>G	c.(1678-1680)ACA>GCA	p.T560A	TJP2_uc011lrs.1_Missense_Mutation_p.T537A|TJP2_uc011lrt.1_Missense_Mutation_p.T537A|TJP2_uc004ahd.2_Missense_Mutation_p.T560A|TJP2_uc004ahf.2_Missense_Mutation_p.T560A|TJP2_uc011lru.1_Missense_Mutation_p.T564A|TJP2_uc011lrv.1_Missense_Mutation_p.T582A	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	560	PDZ 3.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						ATAGGTGAACACACAGGATTT	0.308													G	71849361	A	G	71849361	3	3	152	1	0	0	0	0	1	0	0	0	15927	159	6	3	1881	3	TJP2	9	71849361	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	856216	71849361	69364070	520	82337											
TJP2	9414	broad.mit.edu	37	chr9	71853685	71853685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtggtccggttaaataccGtgaggcaaattattgaacag	12	6	0	2	rs145368713	by1000genomes	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:71853685G>A	uc004ahe.2	+	16	2535	c.2335G>A	c.(2335-2337)GTG>ATG	p.V779M	TJP2_uc011lrs.1_Missense_Mutation_p.V756M|TJP2_uc011lrt.1_Missense_Mutation_p.V756M|TJP2_uc004ahd.2_Missense_Mutation_p.V779M|TJP2_uc004ahf.2_Missense_Mutation_p.V779M|TJP2_uc011lru.1_Missense_Mutation_p.V783M|TJP2_uc011lrv.1_Missense_Mutation_p.V801M	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	779	Guanylate kinase-like.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						GTTAAATACCGTGAGGCAAAT	0.378													A	71853685	G	A	71853685	3	1	152	1	0	0	0	0	1	0	0	0	15927	1145	40	1	2554	1	TJP2	9	71853685	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	4324	71853685	69359746	521	82338											
FOXB2	442425	broad.mit.edu	37	chr9	79635498	79635498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggccagcttggcaacgtcGtcagctccgtgtggccgcac	13	16	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:79635498G>A	uc004ako.1	+	1	928	c.928G>A	c.(928-930)GTC>ATC	p.V310I		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	310					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						TGGCAACGTCGTCAGCTCCGT	0.577													A	79635498	G	A	79635498	3	1	152	1	0	0	0	0	1	0	0	0	5993	1145	40	1	930	1	FOXB2	9	79635498	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	7781813	79635498	61577933	522	82339											
RASEF	158158	broad.mit.edu	37	chr9	85613288	85613288	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgcacttgcctctcctgAccagctgtatcccagagctg	9	14	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:85613288A>G	uc004amo.1	-	13	2058	c.1797T>C	c.(1795-1797)GGT>GGC	p.G599G		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	599	GTP (Probable).				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						GCCTCTCCTGACCAGCTGTAT	0.463													G	85613288	A	G	85613288	2	3	152	1	0	0	0	0	0	0	0	1	13068	262	10	3		3	RASEF	9	85613288	Silent	SNP	A	TCGA-CD-8536-01A-11D-2340-08	5977790	85613288	55600143	523	82340											
S1PR3	1903	broad.mit.edu	37	chr9	91617035	91617035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagcaaggagatgcggcGggccttcttccgtctggtct	15	12	3	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:91617035G>A	uc004aqe.2	+	2	1316	c.920G>A	c.(919-921)CGG>CAG	p.R307Q		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	307	Cytoplasmic (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						GAGATGCGGCGGGCCTTCTTC	0.622													A	91617035	G	A	91617035	3	1	152	1	0	0	0	0	1	0	0	0	13795	1116	39	1	922	1	S1PR3	9	91617035	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	6003747	91617035	49596396	524	82341											
SHC3	53358	broad.mit.edu	37	chr9	91793266	91793266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccgccggggtcgcgcgcGccgccgaaaccttgcctccg	14	20	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:91793266G>A	uc004aqg.2	-	1	417	c.110C>T	c.(109-111)GCG>GTG	p.A37V		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	37					central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4						ggtcgcgcgcgccgccgAAAC	0.557													A	91793266	G	A	91793266	3	1	152	1	0	0	0	0	1	0	0	0	14272	1087	38	1	1722	1	SHC3	9	91793266	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	176231	91793266	49420165	525	82342											
NFIL3	4783	broad.mit.edu	37	chr9	94172525	94172525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatcgagggttcgtgctcGtccacaaatgaactcacatt	8	12	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:94172525G>A	uc004arh.2	-	2	887	c.492C>T	c.(490-492)GAC>GAT	p.D164D		NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	164	Ser-rich.				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						GTTCGTGCTCGTCCACAAATG	0.428													A	94172525	G	A	94172525	2	1	152	1	0	0	0	0	0	0	0	1	10373	1136	40	1		1	NFIL3	9	94172525	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2379259	94172525	47040906	526	82343											
IPPK	64768	broad.mit.edu	37	chr9	95396773	95396775	+	Splice_Site	DEL	GAA	GAA	-													tctatttgtaaggtttttctGaagaagaaagcacaataaaa							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:95396772_95396774TGAA>T	uc004asl.1	-	11	1345	c.1068_splice	c.e11-1	p.R356_splice	IPPK_uc004ask.1_Splice_Site_p.R55_splice	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	Homo sapiens inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPPK), mRNA.	356					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						AAGGTTTTTCTGAAGAAGAAAGC	0.443											OREG0019315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	95396775	GAA	-	95396773	8	5	152	1	0	1	0	1	0	0	1	0	7801	1305	45	0		0	IPPK	9	95396773	Splice_Site	DEL	GAA	TCGA-CD-8536-01A-11D-2340-08	1224248	95396773	45816658	527	82344											
FAM120A	23196	broad.mit.edu	37	chr9	96326587	96326587	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atctggggaatcgaagtcctCtgctatgtcttcagacgggt	12	9	4	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:96326587C>A	uc004atw.2	+	18	3147	c.3122C>A	c.(3121-3123)TCT>TAT	p.S1041Y	FAM120A_uc004aty.2_Missense_Mutation_p.S822Y|FAM120A_uc004atz.2_Missense_Mutation_p.S689Y|FAM120A_uc010mrg.2_Missense_Mutation_p.S308Y|FAM120A_uc004aua.1_RNA	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	1041	RNA binding.					cytoplasm|plasma membrane	RNA binding				0						TCGAAGTCCTCTGCTATGTCT	0.542													A	96326587	C	A	96326587	3	1	152	1	0	0	0	0	1	0	0	0	5415	913	32	5	3192	5	FAM120A	9	96326587	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	929814	96326587	44886844	528	82345											
PHF2	5253	broad.mit.edu	37	chr9	96428047	96428047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggacaagcccaagcccGtgcgggatgagtatgagtac	15	9	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:96428047G>A	uc004aub.2	+	15	2164	c.2017G>A	c.(2017-2019)GTG>ATG	p.V673M	PHF2_uc011lug.1_Missense_Mutation_p.V556M|PHF2_uc004auc.2_Missense_Mutation_p.V92M	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	673					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GCCCAAGCCCGTGCGGGATGA	0.587													A	96428047	G	A	96428047	3	1	152	1	0	0	0	0	1	0	0	0	11830	1145	40	1	2075	1	PHF2	9	96428047	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	101460	96428047	44785384	529	82346											
PTPN3	5774	broad.mit.edu	37	chr9	112216795	112216795	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtttgttcttgctgcaGtgtgttgggatcaggtataa	13	6	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:112216795G>A	uc004bed.2	-	5	461	c.349C>T	c.(349-351)CTG>TTG	p.L117L	PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.L117L|PTPN3_uc011lwh.1_Intron|PTPN3_uc004bee.3_3'UTR	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	117	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						TCTTGCTGCAGTGTGTTGGGA	0.313													A	112216795	G	A	112216795	2	1	152	1	0	0	0	0	0	0	0	1	12789	1020	36	4		4	PTPN3	9	112216795	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	15788748	112216795	28996636	530	82347											
MUSK	4593	broad.mit.edu	37	chr9	113459694	113459695	+	Frame_Shift_Ins	INS	-	-	A													gacagtatcgatgtgtggcaINSaaaaacagcctcgggacagc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:113459693_113459694C>CA	uc022blv.1	+	4	709_710	c.575_576C>CA	c.(574-576)gcafs	p.A192fs	MUSK_uc022blt.1_Frame_Shift_Ins_p.A192fs|MUSK_uc004bez.2_Frame_Shift_Ins_p.A192fs|MUSK_uc022blu.1_Frame_Shift_Ins_p.A192fs	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	192	Ig-like 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.V191A(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CGATGTGTGGCAAAAAACAGCC	0.48													A	113459695	-	A	113459694	7	5	152	1	0	1	1	0	0	0	0	0	9989	117	5	0	594	0	MUSK	9	113459694	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	1242899	113459694	27753737	531	82348											
C9orf80	58493	broad.mit.edu	37	chr9	115456516	115456517	+	Splice_Site	INS	-	-	A													atttttgttttgaaaacctaINSaaaaaaagaggggaatagga							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:115456515_115456516T>TA	uc004bgg.3	-	3	203	c.26_splice	c.e3-1	p.G9_splice	C9orf80_uc010muk.3_Splice_Site	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN	Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA.	9					DNA repair|response to ionizing radiation	SOSS complex	protein binding	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	4						TTTGAAAACCTAAAAAAAAGAG	0.347													A	115456517	-	A	115456516	8	5	152	1	0	1	1	0	0	0	1	0	2498	377	13	0		0	C9orf80	9	115456516	Splice_Site	INS	-	TCGA-CD-8536-01A-11D-2340-08	1996822	115456516	25756915	532	82349											
SNX30	401548	broad.mit.edu	37	chr9	115598611	115598611	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcttgagtttgctgccataGgtgactacttagatacattt	9	8	0	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:115598611G>T	uc004bgj.3	+	5	884	c.736G>T	c.(736-738)GGT>TGT	p.G246C	SNX30_uc004bgi.3_5'Flank	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	246					cell communication|protein transport	cytoplasm	phosphatidylinositol binding				0						TGCTGCCATAGGTGACTACTT	0.502													T	115598611	G	T	115598611	3	4	152	1	0	0	0	0	1	0	0	0	14900	1000	35	5	754	5	SNX30	9	115598611	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	142095	115598611	25614820	533	82350											
ZFP37	7539	broad.mit.edu	37	chr9	115806400	115806400	+	Frame_Shift_Del	DEL	T	T	-													cttttctttgaaggaacatgTtttttatgcaaattattttt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:115806399_115806399GT>G	uc011lwz.1	-	3	572	c.544_544AC>C	c.(544-546)catfs	p.H182fs	ZFP37_uc004bgm.1_Frame_Shift_Del_p.H167fs|ZFP37_uc011lxa.1_Frame_Shift_Del_p.H168fs	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	Homo sapiens zinc finger protein 37 homolog (mouse) (ZFP37), mRNA.	167						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GAAGGAACATGTTTTTTATGC	0.343													-	115806400	T	-	115806400	7	5	152	1	0	1	0	1	0	0	0	0	17645	1722	60	0	1398	0	ZFP37	9	115806400	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	207789	115806400	25407031	534	82351											
C9orf43	257169	broad.mit.edu	37	chr9	116187323	116187323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcactgcgatatcctgaaCgtttgaagaaattacataac	7	9	0	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:116187323C>T	uc004bho.3	+	9	1228	c.832C>T	c.(832-834)CGT>TGT	p.R278C	C9orf43_uc004bhp.2_Missense_Mutation_p.R278C	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	hypothetical protein LOC257169	278											0						ATATCCTGAACGTTTGAAGAA	0.408													T	116187323	C	T	116187323	3	4	152	1	0	0	0	0	1	0	0	0	2483	536	19	1	862	1	C9orf43	9	116187323	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	380923	116187323	25026108	535	82352											
ZNF618	114991	broad.mit.edu	37	chr9	116764939	116764939	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggggagggagcctcccaaAgcagtgagtactttttcctc	12	11	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:116764939A>C	uc004bid.2	+	6	646	c.547A>C	c.(547-549)AGC>CGC	p.S183R	ZNF618_uc004bib.1_Missense_Mutation_p.S151R|ZNF618_uc004bic.2_Missense_Mutation_p.S151R|ZNF618_uc011lxi.1_Missense_Mutation_p.S151R|ZNF618_uc011lxj.1_Missense_Mutation_p.S151R	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGCCTCCCAAAGCAGTGAGTA	0.627													C	116764939	A	C	116764939	3	2	152	1	0	0	0	0	1	0	0	0	18039	72	3	5	469	5	ZNF618	9	116764939	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	577616	116764939	24448492	536	82353											
TNC	3371	broad.mit.edu	37	chr9	117835903	117835903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggatgccttcacacgtgCgggcttgctcttgtgtctgc	13	11	3	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:117835903C>T	uc004bjj.3	-	10	3555	c.3193G>A	c.(3193-3195)GCA>ACA	p.A1065T	TNC_uc010mvf.2_Missense_Mutation_p.A1065T	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1065	Fibronectin type-III 5.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						TTCACACGTGCGGGCTTGCTC	0.542													T	117835903	C	T	117835903	3	4	152	1	0	0	0	0	1	0	0	0	16267	768	27	1	3488	1	TNC	9	117835903	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1070964	117835903	23377528	537	82354											
TRIM32	22954	broad.mit.edu	37	chr9	119461547	119461547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggtggtcaaatacagctGcctatgtagtgctgtgcggc	15	8	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:119461547G>A	uc004bjx.2	+	2	1684	c.1526G>A	c.(1525-1527)TGC>TAC	p.C509Y	ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.C509Y	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN	tripartite motif-containing 32	509					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|kidney(1)	3						AAATACAGCTGCCTATGTAGT	0.517									Bardet-Biedl_syndrome				A	119461547	G	A	119461547	3	1	152	1	0	0	0	0	1	0	0	0	16503	1319	46	2	1528	2	TRIM32	9	119461547	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1625644	119461547	21751884	538	82355											
DAB2IP	153090	broad.mit.edu	37	chr9	124535109	124535109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggctccccggcgggccccGacgtcctccccacagatggg	13	19	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:124535109G>A	uc004bln.2	+	12	2287	c.2218G>A	c.(2218-2220)GAC>AAC	p.D740N	DAB2IP_uc004blo.2_Missense_Mutation_p.D644N|DAB2IP_uc004blp.2_Missense_Mutation_p.D173N	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	768					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2						GGCGGGCCCCGACGTCCTCCC	0.721													A	124535109	G	A	124535109	3	1	152	1	0	0	0	0	1	0	0	0	4219	1058	37	1	2264	1	DAB2IP	9	124535109	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	5073562	124535109	16678322	539	82356											
GAPVD1	26130	broad.mit.edu	37	chr9	128117027	128117027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctattgcaaagagttttgCgggacaaagaagtggccaat	13	6	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:128117027C>T	uc010mwx.2	+	24	4044	c.3718C>T	c.(3718-3720)CGG>TGG	p.R1240W	GAPVD1_uc004bpp.2_Missense_Mutation_p.R1249W|GAPVD1_uc004bpq.2_Missense_Mutation_p.R1222W|GAPVD1_uc004bpr.2_Missense_Mutation_p.R1201W|GAPVD1_uc004bps.2_Missense_Mutation_p.R1195W|GAPVD1_uc004bpt.2_Missense_Mutation_p.R255W	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1240					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						AAGAGTTTTGCGGGACAAAGA	0.428													T	128117027	C	T	128117027	3	4	152	1	0	0	0	0	1	0	0	0	6239	759	27	1	3831	1	GAPVD1	9	128117027	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	3581918	128117027	13096404	540	82357											
FAM125B	89853	broad.mit.edu	37	chr9	129243681	129243681	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccttttatgatttcagagaAgttttcttgtgttccagaaa	8	6	2	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:129243681A>C	uc004bqh.1	+	8	872	c.791A>C	c.(790-792)AAG>ACG	p.K264T	FAM125B_uc011lzy.1_Missense_Mutation_p.K249T|FAM125B_uc010mxd.2_Missense_Mutation_p.K257T	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	hypothetical protein LOC89853 isoform 1	264	UMA.				protein transport	late endosome membrane					0						ATTTCAGAGAAGTTTTCTTGT	0.438													C	129243681	A	C	129243681	3	2	152	1	0	0	0	0	1	0	0	0	5428	72	3	5	825	5	FAM125B	9	129243681	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	1126654	129243681	11969750	541	82358											
GARNL3	84253	broad.mit.edu	37	chr9	130151311	130151311	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccactcccatcagtgtgggcCttgctgccattccagtcacg	9	16	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:130151311C>A	uc011mae.1	+	26	3057	c.2656C>A	c.(2656-2658)CTT>ATT	p.L886I	GARNL3_uc011mad.1_Missense_Mutation_p.L864I|GARNL3_uc010mxi.2_Missense_Mutation_p.L116I	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	886					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CAGTGTGGGCCTTGCTGCCAT	0.537													A	130151311	C	A	130151311	3	1	152	1	0	0	0	0	1	0	0	0	6241	681	24	5	2758	5	GARNL3	9	130151311	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	907630	130151311	11062120	542	82359											
FAM129B	64855	broad.mit.edu	37	chr9	130269149	130269149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcagtctgcacccctgcaCtgtcctcggtggtggtgtgg	13	13	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:130269149C>T	uc004brh.2	-	14	2418	c.2216G>A	c.(2215-2217)AGT>AAT	p.S739N	FAM129B_uc004bri.2_Missense_Mutation_p.S726N|FAM129B_uc004brj.3_3'UTR	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	739							protein binding				0						CACCCCTGCACTGTCCTCGGT	0.677													T	130269149	C	T	130269149	3	4	152	1	0	0	0	0	1	0	0	0	5437	565	20	4	28	4	FAM129B	9	130269149	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	117838	130269149	10944282	543	82360											
SPTAN1	6709	broad.mit.edu	37	chr9	131344828	131344828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaagatgtggccactcgccGagatgctgtaagtttgtagg	15	7	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:131344828G>A	uc004bvl.3	+	13	1756	c.1643G>A	c.(1642-1644)CGA>CAA	p.R548Q	SPTAN1_uc011mbg.1_Missense_Mutation_p.R548Q|SPTAN1_uc011mbh.1_Missense_Mutation_p.R560Q|SPTAN1_uc004bvm.3_Missense_Mutation_p.R548Q|SPTAN1_uc004bvn.3_Missense_Mutation_p.R548Q	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	548	Spectrin 6.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						GCCACTCGCCGAGATGCTGTA	0.413													A	131344828	G	A	131344828	3	1	152	1	0	0	0	0	1	0	0	0	15116	1058	37	1	1689	1	SPTAN1	9	131344828	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1075679	131344828	9868603	544	82361											
LRRC8A	56262	broad.mit.edu	37	chr9	131671529	131671529	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctggacctcagccacaacAacctgaccttcctccctgcc	5	20	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:131671529A>G	uc004bwl.3	+	3	2340	c.2086A>G	c.(2086-2088)AAC>GAC	p.N696D	LRRC8A_uc010myp.2_Missense_Mutation_p.N696D|LRRC8A_uc010myq.2_Missense_Mutation_p.N696D	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	696	LRR 14.				pre-B cell differentiation	integral to membrane					0						CAGCCACAACAACCTGACCTT	0.617													G	131671529	A	G	131671529	3	3	152	1	0	0	0	0	1	0	0	0	9021	130	5	3	2088	3	LRRC8A	9	131671529	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	326701	131671529	9541902	545	82362											
DOLK	22845	broad.mit.edu	37	chr9	131709462	131709462	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggcgcaccacgagtatcGgtcccatacggttgcgtgga	13	13	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:131709462G>A	uc004bwr.2	-	1	551	c.121C>T	c.(121-123)CGA>TGA	p.R41*	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	dolichol kinase	41	Cytoplasmic (Potential).				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity				0						CACGAGTATCGGTCCCATACG	0.652													A	131709462	G	A	131709462	4	1	152	1	0	0	0	0	0	1	0	0	4703	1124	39	1	1499	1	DOLK	9	131709462	Nonsense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	37933	131709462	9503969	546	82363											
PPP2R4	5524	broad.mit.edu	37	chr9	131904775	131904775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagctgtggaacatcagcGccgtcccttcctggtccaaa	9	15	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:131904775G>A	uc004bxm.1	+	10	1210	c.943G>A	c.(943-945)GCC>ACC	p.A315T	PPP2R4_uc004bxl.1_Missense_Mutation_p.A280T|PPP2R4_uc011mbo.1_Missense_Mutation_p.A315T|PPP2R4_uc010myr.1_Missense_Mutation_p.A61T|PPP2R4_uc004bxn.1_Missense_Mutation_p.A280T|PPP2R4_uc004bxo.1_Missense_Mutation_p.A238T|PPP2R4_uc011mbp.1_Missense_Mutation_p.A251T|PPP2R4_uc011mbq.1_Missense_Mutation_p.A238T|PPP2R4_uc010mys.1_Missense_Mutation_p.A245T|PPP2R4_uc011mbr.1_Missense_Mutation_p.A18T|PPP2R4_uc004bxp.2_RNA|PPP2R4_uc004bxq.2_RNA	NM_178001	NP_821068	Q15257	PTPA_HUMAN	protein phosphatase 2A, regulatory subunit B'	315					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			ovary(1)|lung(1)|pancreas(1)	3		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		GAACATCAGCGCCGTCCCTTC	0.577											OREG0003933	type=REGULATORY REGION|Gene=PPP2R4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	131904775	G	A	131904775	3	1	152	1	0	0	0	0	1	0	0	0	12391	1087	38	1	981	1	PPP2R4	9	131904775	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	195313	131904775	9308656	547	82364											
FIBCD1	84929	broad.mit.edu	37	chr9	133779537	133779537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaggaccactccacgcCgtcggcataggaggcgtgcg	15	14	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:133779537C>T	uc004bzz.2	-	7	1545	c.1300G>A	c.(1300-1302)GGC>AGC	p.G434S	FIBCD1_uc011mcc.1_Missense_Mutation_p.G434S	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	434	Fibrinogen C-terminal.|Extracellular (Potential).				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding				0	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CACTCCACGCCGTCGGCATAG	0.642													T	133779537	C	T	133779537	3	4	152	1	0	0	0	0	1	0	0	0	5884	652	23	1	89	1	FIBCD1	9	133779537	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1874762	133779537	7433894	548	82365											
BARHL1	56751	broad.mit.edu	37	chr9	135464750	135464750	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaacctggaccccggcgcGgcgctctacctgtaccgcgg	12	18	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:135464750G>A	uc004cbp.1	+	3	1017	c.825G>A	c.(823-825)GCG>GCA	p.A275A		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	275						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		ACCCCGGCGCGGCGCTCTACC	0.677													A	135464750	G	A	135464750	2	1	152	1	0	0	0	0	0	0	0	1	1313	1103	39	1		1	BARHL1	9	135464750	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1685213	135464750	5748681	549	82366											
C9orf98	158067	broad.mit.edu	37	chr9	135690075	135690075	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagctcgccaaacgtggtcCtatctgccacagcctctttc	8	15	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:135690075C>A	uc004cbu.1	-	10	1485	c.929G>T	c.(928-930)AGG>ATG	p.R310M	C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Missense_Mutation_p.R106M	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	putative adenylate kinase-like protein C9orf98	310	Adenylate kinase.					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)		AAACGTGGTCCTATCTGCCAC	0.493													A	135690075	C	A	135690075	3	1	152	1	0	0	0	0	1	0	0	0	2509	681	24	5	526	5	C9orf98	9	135690075	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	225325	135690075	5523356	550	82367											
TSC1	7248	broad.mit.edu	37	chr9	135771817	135771817	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcatcacactggctctcGctcttattacgaaataactc	4	14	4	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:135771817G>A	uc004cca.2	-	23	3534	c.3300C>T	c.(3298-3300)AGC>AGT	p.S1100S	TSC1_uc004ccb.3_Silent_p.S1099S|TSC1_uc011mcq.1_Silent_p.S1049S|TSC1_uc011mcr.1_3'UTR	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	1100					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ACTGGCTCTCGCTCTTATTAC	0.522			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				A	135771817	G	A	135771817	2	1	152	1	0	0	0	0	0	0	0	1	16602	1078	38	1		1	TSC1	9	135771817	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	81742	135771817	5441614	551	82368											
RALGDS	5900	broad.mit.edu	37	chr9	135982500	135982500	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcgatccagtgctccaccAccctggccctgtctggggct	10	18	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:135982500A>G	uc004cco.2	-	7	1405	c.1385T>C	c.(1384-1386)GTG>GCG	p.V462A	RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.V450A|RALGDS_uc004ccr.2_Missense_Mutation_p.V461A|RALGDS_uc011mcv.1_Missense_Mutation_p.V433A|RALGDS_uc004ccs.2_Missense_Mutation_p.V407A|RALGDS_uc011mcw.1_Missense_Mutation_p.V533A|RALGDS_uc004ccv.1_Missense_Mutation_p.V231A|RALGDS_uc004ccu.1_Missense_Mutation_p.V231A	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	462	Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GTGCTCCACCACCCTGGCCCT	0.617			T	CIITA	PMBL|Hodgkin Lymphona|								G	135982500	A	G	135982500	3	3	152	1	0	0	0	0	1	0	0	0	13016	159	6	3	1407	3	RALGDS	9	135982500	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	210683	135982500	5230931	552	82369											
RALGDS	5900	broad.mit.edu	37	chr9	135982538	135982538	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctttcgtgcttcggttcccGaggcaggtggtgatgacaca	14	10	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:135982538G>A	uc004cco.2	-	7	1367	c.1347C>T	c.(1345-1347)CTC>CTT	p.L449L	RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Silent_p.L437L|RALGDS_uc004ccr.2_Silent_p.L448L|RALGDS_uc011mcv.1_Silent_p.L420L|RALGDS_uc004ccs.2_Silent_p.L394L|RALGDS_uc011mcw.1_Silent_p.L520L|RALGDS_uc004ccv.1_Silent_p.L218L|RALGDS_uc004ccu.1_Silent_p.L218L	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	449	Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TTCGGTTCCCGAGGCAGGTGG	0.652			T	CIITA	PMBL|Hodgkin Lymphona|								A	135982538	G	A	135982538	2	1	152	1	0	0	0	0	0	0	0	1	13016	1045	37	1		1	RALGDS	9	135982538	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	38	135982538	5230893	553	82370											
RPL7A	6130	broad.mit.edu	37	chr9	136217921	136217921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaattacaatgacagatacGatgaggtaagaggcagcttt	10	7	0	4			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:136217921G>A	uc004cde.1	+	7	721	c.691G>A	c.(691-693)GAT>AAT	p.D231N	MED22_uc004cdc.2_5'Flank|MED22_uc004cdd.2_5'Flank|RPL7A_uc004cdf.1_Missense_Mutation_p.D55N	NM_000972	NP_000963	P62424	RL7A_HUMAN	ribosomal protein L7a	231					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome				0				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		TGACAGATACGATGAGGTAAG	0.428													A	136217921	G	A	136217921	3	1	152	1	0	0	0	0	1	0	0	0	13600	1058	37	1	717	1	RPL7A	9	136217921	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	235383	136217921	4995510	554	82371											
COL5A1	1289	broad.mit.edu	37	chr9	137622201	137622201	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagtgaggactactacacGccctcaccgtatgatgacct	8	15	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:137622201G>A	uc004cfe.2	+	7	1426	c.1044G>A	c.(1042-1044)ACG>ACA	p.T348T		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	348	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACTACTACACGCCCTCACCGT	0.632													A	137622201	G	A	137622201	2	1	152	1	0	0	0	0	0	0	0	1	3696	1074	38	1		1	COL5A1	9	137622201	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1404280	137622201	3591230	555	82372											
MRPS2	51116	broad.mit.edu	37	chr9	138395428	138395428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgggagccgcctggaccacGacatcatcgacctggaacag	12	13	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:138395428G>A	uc004cfv.3	+	4	414	c.340G>A	c.(340-342)GAC>AAC	p.D114N	MRPS2_uc004cfw.3_Missense_Mutation_p.D24N|MRPS2_uc004cfx.3_Missense_Mutation_p.D29N|MRPS2_uc010nat.2_Missense_Mutation_p.D95N|uc004cfy.2_RNA	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	114					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome				0				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CCTGGACCACGACATCATCGA	0.587													A	138395428	G	A	138395428	3	1	152	1	0	0	0	0	1	0	0	0	9831	1058	37	1	354	1	MRPS2	9	138395428	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	773227	138395428	2818003	556	82373											
LHX3	8022	broad.mit.edu	37	chr9	139090568	139090568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtccgacttggagccgccGcgggagcgcttcatgttgcg	15	12	1	0	rs138595537	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:139090568G>A	uc004cha.2	-	5	802	c.705C>T	c.(703-705)CGC>CGT	p.R235R	LHX3_uc004cgz.2_Silent_p.R240R	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN	LIM homeobox protein 3 isoform a	235					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		TGGAGCCGCCGCGGGAGCGCT	0.672													A	139090568	G	A	139090568	2	1	152	1	0	0	0	0	0	0	0	1	8772	1074	38	1		1	LHX3	9	139090568	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	695140	139090568	2122863	557	82374											
NOTCH1	4851	broad.mit.edu	37	chr9	139397775	139397775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtcaatctccaggtagaCgatggagctgggcggacaat	14	8	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:139397775C>T	uc004chz.2	-	27	5026	c.5026G>A	c.(5026-5028)GTC>ATC	p.V1676I	NOTCH1_uc004cia.1_Missense_Mutation_p.V906I	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1676	Extracellular (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.S1675_I1676insG(3)|p.I1676_V1677>MF(2)|p.V1677>GIV(1)|p.I1676>TAFL(1)|p.I1676_V1677>I(1)		haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCCAGGTAGACGATGGAGCTG	0.672			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			T	139397775	C	T	139397775	3	4	152	1	0	0	0	0	1	0	0	0	10547	536	19	1	2673	1	NOTCH1	9	139397775	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	307207	139397775	1815656	558	82375											
C9orf172	389813	broad.mit.edu	37	chr9	139741105	139741105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgtgtcggcttcctgtcgCgcggccgcggcgtgctcttc	15	16	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:139741105C>T	uc011meh.1	+	1	2239	c.2239C>T	c.(2239-2241)CGC>TGC	p.R747C	PHPT1_uc004cjp.2_5'Flank|PHPT1_uc011mei.1_5'Flank|PHPT1_uc004cjq.3_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	747											0						CTTCCTGTCGCGCGGCCGCGG	0.697													T	139741105	C	T	139741105	3	4	152	1	0	0	0	0	1	0	0	0	2471	768	27	1	2241	1	C9orf172	9	139741105	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	343330	139741105	1472326	559	82376											
LCN12	286256	broad.mit.edu	37	chr9	139846847	139846847	+	Frame_Shift_Del	DEL	C	C	-													cctgcaggcccagaccccaaCccccctgccactcccgcccc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:139846846_139846846AC>A	uc004ckc.3	+	0	75	c.67_67AC>A	c.(67-69)accfs	p.T23fs	LCN12_uc022bpx.1_Frame_Shift_Del_p.T23fs|LCN12_uc004ckb.3_Frame_Shift_Del_p.T23fs			Q6JVE5	LCN12_HUMAN	Homo sapiens lipocalin 12 (LCN12), mRNA.	23					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CCAGACCCCAACCCCCCTGCC	0.637													-	139846847	C	-	139846847	7	5	152	1	0	1	0	1	0	0	0	0	8682	507	18	0	70	0	LCN12	9	139846847	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	105742	139846847	1366584	560	82377											
ANAPC2	29882	broad.mit.edu	37	chr9	140069815	140069815	+	Frame_Shift_Del	DEL	G	G	-													tcaatgacagagaaggtgccGgggggctcctcacgcagcac					rs150560922	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:140069814_140069814CG>C	uc004clr.1	-	11	2204	c.2131_2131CG>G	c.(2131-2133)ggcfs	p.G711fs	ANAPC2_uc004clq.1_Frame_Shift_Del_p.G567fs	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	711					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GAGAAGGTGCCGGGGGGCTCC	0.662													-	140069815	G	-	140069815	7	5	152	1	0	1	0	1	0	0	0	0	603	1103	39	0	346	0	ANAPC2	9	140069815	Frame_Shift_Del	DEL	G	TCGA-CD-8536-01A-11D-2340-08	222968	140069815	1143616	561	82378											
USP6NL	9712	broad.mit.edu	37	chr10	11505520	11505520	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcgttgctattttggttGgcagctgcgtgattatattg	14	5	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:11505520G>A	uc001ikt.3	-	15	1728	c.1407C>T	c.(1405-1407)GCC>GCT	p.A469A	USP6NL_uc001iks.1_Silent_p.A486A	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	469						intracellular	Rab GTPase activator activity				0						TATTTTGGTTGGCAGCTGCGT	0.453													A	11505520	G	A	11505520	2	1	152	1	0	0	0	0	0	0	0	1	17084	1335	47	4		4	USP6NL	10	11505520	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08		11505520	124029227	562	82379											
NEBL	10529	broad.mit.edu	37	chr10	21076218	21076218	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggaatggctttgctgataGgctccgggaagaacaggtgc	16	7	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:21076218G>T	uc001iqi.2	-	27	3178	c.2781C>A	c.(2779-2781)GCC>GCA	p.A927A	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Silent_p.A183A	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	927	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						TTTGCTGATAGGCTCCGGGAA	0.453													T	21076218	G	T	21076218	2	4	152	1	0	0	0	0	0	0	0	1	10303	987	35	5		5	NEBL	10	21076218	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	9570698	21076218	114458529	563	82380											
ARMC3	219681	broad.mit.edu	37	chr10	23270360	23270360	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatggaactaaaattgctgcTtcccaagctatttcagcaat	7	9	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:23270360T>C	uc001irm.3	+	9	1091	c.1008T>C	c.(1006-1008)GCT>GCC	p.A336A	ARMC3_uc010qcv.1_Silent_p.A336A|ARMC3_uc010qcw.1_Silent_p.A73A	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	336	ARM 8.						binding				0						AAATTGCTGCTTCCCAAGCTA	0.358													C	23270360	T	C	23270360	2	2	152	1	0	0	0	0	0	0	0	1	952	1596	56	3		3	ARMC3	10	23270360	Silent	SNP	T	TCGA-CD-8536-01A-11D-2340-08	2194142	23270360	112264387	564	82381											
ARMC3	219681	broad.mit.edu	37	chr10	23287195	23287195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccatgcaggagcccctgCgcctgaacatacagaatcac	10	14	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:23287195C>T	uc001irm.3	+	11	1377	c.1294C>T	c.(1294-1296)CGC>TGC	p.R432C	ARMC3_uc010qcv.1_Missense_Mutation_p.R432C|ARMC3_uc010qcw.1_Missense_Mutation_p.R169C	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	432	ARM 11.						binding				0						GGAGCCCCTGCGCCTGAACAT	0.502													T	23287195	C	T	23287195	3	4	152	1	0	0	0	0	1	0	0	0	952	768	27	1	1332	1	ARMC3	10	23287195	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	16835	23287195	112247552	565	82382											
GAD2	2572	broad.mit.edu	37	chr10	26575385	26575385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttacagtgcggacgccacGttgatgtttttaaactatgg	10	9	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:26575385G>A	uc001isp.2	+	13	1851	c.1348G>A	c.(1348-1350)GTT>ATT	p.V450I	GAD2_uc001isq.2_Missense_Mutation_p.V450I	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	450					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Glutamic Acid(DB00142)	CGGACGCCACGTTGATGTTTT	0.443													A	26575385	G	A	26575385	3	1	152	1	0	0	0	0	1	0	0	0	6180	1145	40	1	1398	1	GAD2	10	26575385	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	3288190	26575385	108959362	566	82383											
ARHGAP12	94134	broad.mit.edu	37	chr10	32101710	32101710	+	Frame_Shift_Del	DEL	T	T	-													cttctttaagtttttcttggTttttttctgttctgaagaat					rs143153220		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:32101709_32101709GT>G	uc001ivz.1	-	14	2147	c.1877_1877AC>C	c.(1876-1878)accfs	p.T626fs	ARHGAP12_uc001ivy.1_Frame_Shift_Del_p.T572fs|ARHGAP12_uc009xls.2_Frame_Shift_Del_p.T577fs|ARHGAP12_uc001iwb.1_Frame_Shift_Del_p.T619fs|ARHGAP12_uc001iwc.1_Frame_Shift_Del_p.T594fs|ARHGAP12_uc009xlq.1_Frame_Shift_Del_p.T547fs	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Homo sapiens Rho GTPase activating protein 12 (ARHGAP12), mRNA.	626					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GTTTTTCTTGGTTTTTTTCTG	0.318													-	32101710	T	-	32101710	7	5	152	1	0	1	0	1	0	0	0	0	865	1725	60	0	688	0	ARHGAP12	10	32101710	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	5526325	32101710	103433037	567	82384											
ANUBL1	93550	broad.mit.edu	37	chr10	46121887	46121887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtgaggacttaattcccGgtagttaagaactgaagtct	10	7	1	3	rs140274256		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:46121887G>A	uc001jcp.3	-	7	1626	c.1384C>T	c.(1384-1386)CGG>TGG	p.R462W	ANUBL1_uc001jcl.3_5'UTR|ANUBL1_uc001jcm.3_Missense_Mutation_p.R462W|ANUBL1_uc009xmu.2_Missense_Mutation_p.R388W|ANUBL1_uc001jcn.3_Missense_Mutation_p.R388W|ANUBL1_uc001jco.3_Intron	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN	AN1, ubiquitin-like, homolog	462							zinc ion binding				0						CTTAATTCCCGGTAGTTAAGA	0.458													A	46121887	G	A	46121887	3	1	152	1	0	0	0	0	1	0	0	0	713	1115	39	1	815	1	ANUBL1	10	46121887	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	14020177	46121887	89412860	568	82385											
GDF2	2658	broad.mit.edu	37	chr10	48414338	48414338	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcccaggcatctgttccaTccagaacatcataaatgacc	5	13	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:48414338T>C	uc001jfa.1	-	2	693	c.530A>G	c.(529-531)GAT>GGT	p.D177G		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	177					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3						ATCTGTTCCATCCAGAACATC	0.532													C	48414338	T	C	48414338	3	2	152	1	0	0	0	0	1	0	0	0	6314	1435	50	3	763	3	GDF2	10	48414338	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	2292451	48414338	87120409	569	82386											
GDF10	2662	broad.mit.edu	37	chr10	48429272	48429272	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgacgatgggggagatgTccttggcctgccacaggccg	15	12	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:48429272T>C	uc001jfb.2	-	2	1070	c.614A>G	c.(613-615)GAC>GGC	p.D205G	GDF10_uc009xnp.2_Missense_Mutation_p.D204G|GDF10_uc009xnq.1_Missense_Mutation_p.D205G	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	205					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2						GGGGGAGATGTCCTTGGCCTG	0.731													C	48429272	T	C	48429272	3	2	152	1	0	0	0	0	1	0	0	0	6311	1667	58	3	830	3	GDF10	10	48429272	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	14934	48429272	87105475	570	82387											
LRRTM3	347731	broad.mit.edu	37	chr10	68687965	68687965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtggcgcttttcctgtccGtgctcgtcatcctgctggtt	12	13	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:68687965G>A	uc001jmz.1	+	2	1841	c.1291G>A	c.(1291-1293)GTG>ATG	p.V431M	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.V431M	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	431	Helical; (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						TTTCCTGTCCGTGCTCGTCAT	0.592													A	68687965	G	A	68687965	3	1	152	1	0	0	0	0	1	0	0	0	9041	1145	40	1	1297	1	LRRTM3	10	68687965	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	20258693	68687965	66846782	571	82388											
HKDC1	80201	broad.mit.edu	37	chr10	71008298	71008298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgaccgcggtggcctccCgcgtgcaggcccagcggaag	17	14	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:71008298C>T	uc001jpf.3	+	10	1517	c.1384C>T	c.(1384-1386)CGC>TGC	p.R462C	HKDC1_uc010qje.1_Missense_Mutation_p.R325C	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	462					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5						GGTGGCCTCCCGCGTGCAGGC	0.647													T	71008298	C	T	71008298	3	4	152	1	0	0	0	0	1	0	0	0	7193	652	23	1	1422	1	HKDC1	10	71008298	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	2320333	71008298	64526449	572	82389											
HK1	3098	broad.mit.edu	37	chr10	71142350	71142350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggctgccatggtgacggCggtggcctaccgcttggccg	19	12	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:71142350C>T	uc001jpl.3	+	10	1474	c.1373C>T	c.(1372-1374)GCG>GTG	p.A458V	HK1_uc001jpg.3_Missense_Mutation_p.A446V|HK1_uc001jph.3_Missense_Mutation_p.A462V|HK1_uc001jpi.3_Missense_Mutation_p.A462V|HK1_uc001jpj.3_Missense_Mutation_p.A493V|HK1_uc001jpk.3_Missense_Mutation_p.A457V|HK1_uc009xqd.2_Missense_Mutation_p.A336V	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	458	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						ATGGTGACGGCGGTGGCCTAC	0.622													T	71142350	C	T	71142350	3	4	152	1	0	0	0	0	1	0	0	0	7190	768	27	1	1589	1	HK1	10	71142350	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	134052	71142350	64392397	573	82390											
CDH23	64072	broad.mit.edu	37	chr10	73455252	73455252	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tactacatcaacctggtggaGatgacccctccagactctga	8	13	2	4			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:73455252G>T	uc001jrx.3	+	21	2744	c.2367G>T	c.(2365-2367)GAG>GAT	p.E789D	CDH23_uc001jry.2_Missense_Mutation_p.E405D|CDH23_uc001jrz.2_Missense_Mutation_p.E405D	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	789	Cadherin 8.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						ACCTGGTGGAGATGACCCCTC	0.597													T	73455252	G	T	73455252	3	4	152	1	0	0	0	0	1	0	0	0	3108	933	33	5	2676	5	CDH23	10	73455252	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2312902	73455252	62079495	574	82391											
NUDT13	25961	broad.mit.edu	37	chr10	74879812	74879813	+	Frame_Shift_Ins	INS	-	-	A													aggaagatgatgatgcatgtINSaaaaaagcccagcaaacagg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:74879812_74879813insA	uc001jtj.2	+	3	245_246	c.120_121insA	c.(118-123)TGTAAAfs	p.C40fs	NUDT13_uc010qkc.1_5'UTR|NUDT13_uc010qkd.1_5'UTR|NUDT13_uc009xqw.2_RNA|NUDT13_uc001jtk.2_Frame_Shift_Ins_p.C40fs|NUDT13_uc010qke.1_5'UTR|NUDT13_uc001jtl.2_Frame_Shift_Ins_p.C40fs	NM_015901	NP_056985	Q86X67	NUD13_HUMAN	nudix-type motif 13	40_41							hydrolase activity|metal ion binding				0	Prostate(51;0.0119)					ATGATGCATGTAAAAAAGCCCA	0.426													A	74879813	-	A	74879812	7	5	152	1	0	1	1	0	0	0	0	0	10729	1644	57	0	126	0	NUDT13	10	74879812	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	1424560	74879812	60654935	575	82392	414	2									
NUDT13	25961	broad.mit.edu	37	chr10	74879813	74879814	+	Frame_Shift_Ins	INS	-	-	A													ggaagatgatgatgcatgtaINSaaaaagcccagcaaacagga							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:74879812_74879813T>TA	uc001jtj.3	+	2	245_246	c.120_121T>TA	c.(118-123)tgtaaafs	p.C40fs	NUDT13_uc010qkc.2_5'UTR|NUDT13_uc010qkd.2_5'UTR|NUDT13_uc009xqw.3_Non-coding_Transcript|NUDT13_uc001jtk.3_Frame_Shift_Ins_p.C40fs|NUDT13_uc010qke.2_5'UTR|NUDT13_uc001jtl.3_Frame_Shift_Ins_p.C40fs	NM_015901	NP_056985	Q86X67	NUD13_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 13 (NUDT13), mRNA.	40							hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					ATGATGCATGTAAAAAAGCCCA	0.426													A	74879814	-	A	74879813	7	5	152	1	0	1	1	0	0	0	0	0	10729	363	13	0	127	0	NUDT13	10	74879813	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	1	74879813	60654934	576	82393	414	2									
DNAJC9	23234	broad.mit.edu	37	chr10	75003276	75003277	+	Splice_Site	DEL	CT	CT	-													tttgccgatccttttgtctgCtctgtttgagaagttaaaac							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:75003275_75003276GCT>G	uc001jtr.3	-	5	979	c.664_splice	c.e5-1	p.S222_splice	DNAJC9_uc010qkg.2_Splice_Site_p.S222_splice	NM_015190	NP_056005	Q8WXX5	DNJC9_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 9 (DNAJC9), mRNA.	222					protein folding		heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					CCTTTTGTCTGCTCTGTTTGAG	0.411													-	75003277	CT	-	75003276	8	5	152	1	0	1	0	1	0	0	1	0	4656	811	28	0	121	0	DNAJC9	10	75003276	Splice_Site	DEL	CT	TCGA-CD-8536-01A-11D-2340-08	123463	75003276	60531471	577	82394											
SYNPO2L	79933	broad.mit.edu	37	chr10	75408298	75408298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcccagcccagagccctggCcctctgatgctcttgagccc	9	19	2	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:75408298C>A	uc001jut.3	-	4	1264	c.1112G>T	c.(1111-1113)GGC>GTC	p.G371V	SYNPO2L_uc001jus.3_Missense_Mutation_p.G147V	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	371						cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)					AGAGCCCTGGCCCTCTGATGC	0.632													A	75408298	C	A	75408298	3	1	152	1	0	0	0	0	1	0	0	0	15455	739	26	5	1825	5	SYNPO2L	10	75408298	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	405022	75408298	60126449	578	82395											
KIAA0913	23053	broad.mit.edu	37	chr10	75553466	75553466	+	Frame_Shift_Del	DEL	C	C	-													ccgacctcaaggtagagccgCcccctgccaaggtgagagac							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:75553465_75553465GC>G	uc001jvj.3	+	10	2688	c.2433_2433GC>G	c.(2431-2433)ccgfs	p.P811fs	KIAA0913_uc001jve.3_Frame_Shift_Del_p.P811fs|KIAA0913_uc009xrl.3_Frame_Shift_Del_p.P811fs|KIAA0913_uc001jvf.3_Frame_Shift_Del_p.P811fs|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Frame_Shift_Del_p.P234fs|KIAA0913_uc010qkr.2_Frame_Shift_Del_p.P234fs	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	811							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					AGGTAGAGCCGCCCCCTGCCA	0.627													-	75553466	C	-	75553466	7	5	152	1	0	1	0	1	0	0	0	0	8200	739	26	0	2476	0	KIAA0913	10	75553466	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	145168	75553466	59981281	579	82396											
MYST4	23522	broad.mit.edu	37	chr10	76789627	76789627	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaactgagaactacgaaaAcccaagcagctacgattcta	6	12	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:76789627A>G	uc001jwn.1	+	18	5538	c.5045A>G	c.(5044-5046)AAC>AGC	p.N1682S	MYST4_uc001jwo.1_Missense_Mutation_p.N1390S|MYST4_uc001jwp.1_Missense_Mutation_p.N1499S	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1682	Ser-rich.|Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					AACTACGAAAACCCAAGCAGC	0.488			T	CREBBP	AML								G	76789627	A	G	76789627	3	3	152	1	0	0	0	0	1	0	0	0	10105	43	2	3	5107	3	MYST4	10	76789627	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	1236161	76789627	58745120	580	82397											
KIF20B	9585	broad.mit.edu	37	chr10	91497815	91497815	+	Frame_Shift_Del	DEL	A	A	-													agattgtgaaggcctcttccAaaaaaagtcatcagattgag							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:91497814_91497814CA>C	uc001kgs.1	+	19	3288	c.3216_3216CA>C	c.(3214-3216)tccfs	p.S1072fs	KIF20B_uc001kgr.1_Frame_Shift_Del_p.S1032fs|KIF20B_uc001kgt.1_Frame_Shift_Del_p.S283fs|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1072					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGGCCTCTTCCAAAAAAAGTC	0.348													-	91497815	A	-	91497815	7	5	152	1	0	1	0	1	0	0	0	0	8287	131	5	0	3171	0	KIF20B	10	91497815	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	14708188	91497815	44036932	581	82398											
LOXL4	84171	broad.mit.edu	37	chr10	100018971	100018971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagaaggagttcttattcGtcaggctcttcagcctagag	10	10	4	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:100018971G>A	uc001kpa.1	-	6	867	c.716C>T	c.(715-717)ACG>ATG	p.T239M		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4 precursor	239	SRCR 2.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			ovary(3)|breast(1)|skin(1)	5		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GTTCTTATTCGTCAGGCTCTT	0.602													A	100018971	G	A	100018971	3	1	152	1	0	0	0	0	1	0	0	0	8902	1145	40	1	1594	1	LOXL4	10	100018971	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	8521156	100018971	35515776	582	82399											
ARL3	403	broad.mit.edu	37	chr10	104436693	104436693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttgcagacccagttcatGccatcctttgagggaaatgg	10	9	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:104436693G>A	uc001kwa.2	-	6	665	c.507C>T	c.(505-507)GGC>GGT	p.G169G		NM_004311	NP_004302	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	169					cell cycle|cytokinesis|small GTPase mediated signal transduction	centrosome|cytoplasmic microtubule|Golgi membrane|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule	GDP binding|GTP binding|metal ion binding|microtubule binding				0		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		CCCAGTTCATGCCATCCTTTG	0.507													A	104436693	G	A	104436693	2	1	152	1	0	0	0	0	0	0	0	1	935	1306	46	2		2	ARL3	10	104436693	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	4417722	104436693	31098054	583	82400											
INA	9118	broad.mit.edu	37	chr10	105048194	105048194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaatccacttcccaatcCaagttacctgctcccaccta	4	17	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:105048194C>T	uc001kws.2	+	3	1317	c.1268C>T	c.(1267-1269)CCA>CTA	p.P423L		NM_032727	NP_116116	Q16352	AINX_HUMAN	internexin neuronal intermediate filament	423	Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			ovary(1)|breast(1)	2				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CTTCCCAATCCAAGTTACCTG	0.488													T	105048194	C	T	105048194	3	4	152	1	0	0	0	0	1	0	0	0	7730	594	21	4	1278	4	INA	10	105048194	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	611501	105048194	30486553	584	82401											
PDCD11	22984	broad.mit.edu	37	chr10	105185237	105185237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagctgaaggttgggaagaCggtcactgcccgagtgattg	15	8	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:105185237C>T	uc001kwy.1	+	20	3347	c.3260C>T	c.(3259-3261)ACG>ATG	p.T1087M		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1087	S1 motif 9.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTTGGGAAGACGGTCACTGCC	0.532													T	105185237	C	T	105185237	3	4	152	1	0	0	0	0	1	0	0	0	11617	536	19	1	3334	1	PDCD11	10	105185237	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	137043	105185237	30349510	585	82402											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362219	105362219	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtctgatttgccttcgTtctgcctgcccttggcgggc	13	13	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:105362219T>C	uc001kxj.1	-	14	2812	c.2672A>G	c.(2671-2673)AAC>AGC	p.N891S	SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.N726S|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.N768S|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.N726S|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.N834S	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	919	Potential.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TTTGCCTTCGTTCTGCCTGCC	0.602													C	105362219	T	C	105362219	3	2	152	1	0	0	0	0	1	0	0	0	14256	1725	60	3	649	3	SH3PXD2A	10	105362219	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	176982	105362219	30172528	586	82403											
SLK	9748	broad.mit.edu	37	chr10	105778621	105778621	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaacagcagcttaaagaTcagtatttcatgcaaagaca	6	9	3	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:105778621T>C	uc001kxo.1	+	15	3121	c.3087T>C	c.(3085-3087)GAT>GAC	p.D1029D	SLK_uc001kxp.1_Silent_p.D998D	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	1029	Potential.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGCTTAAAGATCAGTATTTCA	0.388													C	105778621	T	C	105778621	2	2	152	1	0	0	0	0	0	0	0	1	14748	1432	50	3		3	SLK	10	105778621	Silent	SNP	T	TCGA-CD-8536-01A-11D-2340-08	416402	105778621	29756126	587	82404											
ITPRIP	85450	broad.mit.edu	37	chr10	106075728	106075728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgttctcggggactgtggCgttctcccgcgggaacagca	14	13	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:106075728C>T	uc001kye.2	-	2	155	c.82G>A	c.(82-84)GCC>ACC	p.A28T	ITPRIP_uc001kyf.2_Missense_Mutation_p.A28T|ITPRIP_uc001kyg.2_Missense_Mutation_p.A28T	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-triphosphate receptor interacting	28						plasma membrane					0						GGGACTGTGGCGTTCTCCCGC	0.637													T	106075728	C	T	106075728	3	4	152	1	0	0	0	0	1	0	0	0	7923	768	27	1	1565	1	ITPRIP	10	106075728	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	297107	106075728	29459019	588	82405											
SMNDC1	10285	broad.mit.edu	37	chr10	112057440	112057440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagcaaaggtgattgcagCggtgccattttcttcatcta	9	10	3	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:112057440C>T	uc001kzc.3	-	4	512	c.310G>A	c.(310-312)GCT>ACT	p.A104T	SMNDC1_uc001kzb.2_Missense_Mutation_p.A25T	NM_005871	NP_005862	O75940	SPF30_HUMAN	survival motor neuron domain containing 1	104	Tudor.				apoptosis|induction of apoptosis|mRNA processing|RNA splicing, via transesterification reactions	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding|RNA binding			skin(1)	1		Breast(234;0.174)		Epithelial(162;6.86e-05)|all cancers(201;0.00149)|BRCA - Breast invasive adenocarcinoma(275;0.119)		GTGATTGCAGCGGTGCCATTT	0.458													T	112057440	C	T	112057440	3	4	152	1	0	0	0	0	1	0	0	0	14799	768	27	1	418	1	SMNDC1	10	112057440	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	5981712	112057440	23477307	589	82406											
NRAP	4892	broad.mit.edu	37	chr10	115413830	115413830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttacaatttcggggtctgGcagagctcctgggcaccaag	12	12	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:115413830G>A	uc001laj.2	-	5	579	c.415C>T	c.(415-417)CCA>TCA	p.P139S	NRAP_uc001lak.2_Missense_Mutation_p.P139S|NRAP_uc001lal.3_Missense_Mutation_p.P139S	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	139						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCGGGGTCTGGCAGAGCTCCT	0.478													A	115413830	G	A	115413830	3	1	152	1	0	0	0	0	1	0	0	0	10638	1203	42	2	4929	2	NRAP	10	115413830	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	3356390	115413830	20120917	590	82407											
DCLRE1A	9937	broad.mit.edu	37	chr10	115609927	115609927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaatcatccggtttttcatCgatatcatgagtgtcttcat	7	8	5	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:115609927C>T	uc001law.2	-	2	1855	c.937G>A	c.(937-939)GAT>AAT	p.D313N		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	313					cell division|mitosis	nucleus	hydrolase activity			skin(2)	2				Epithelial(162;0.0157)|all cancers(201;0.0171)		GGTTTTTCATCGATATCATGA	0.378								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					T	115609927	C	T	115609927	3	4	152	1	0	0	0	0	1	0	0	0	4294	884	31	1	2217	1	DCLRE1A	10	115609927	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	196097	115609927	19924820	591	82408											
TRUB1	142940	broad.mit.edu	37	chr10	116702490	116702490	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactctagacagcgcagccCgaggagttctgggtaagaga	15	9	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:116702490C>T	uc001lcd.2	+	2	434	c.373C>T	c.(373-375)CGA>TGA	p.R125*	TRUB1_uc010qsl.1_Nonsense_Mutation_p.R27*	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase homolog 1	125					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding				0		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CAGCGCAGCCCGAGGAGTTCT	0.443													T	116702490	C	T	116702490	4	4	152	1	0	0	0	0	0	1	0	0	16599	644	23	1	379	1	TRUB1	10	116702490	Nonsense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1092563	116702490	18832257	592	82409											
SEC23IP	11196	broad.mit.edu	37	chr10	121663791	121663791	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcagtgaaaaactagaggTacgggtgctttatttcttta	10	5	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:121663791T>C	uc001leu.1	+	4	1173	c.1101_splice	c.e4+2	p.E367_splice	SEC23IP_uc010qtc.1_Splice_Site_p.E156_splice	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125						Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		AAACTAGAGGTACGGGTGCTT	0.408													C	121663791	T	C	121663791	5	2	152	1	0	0	0	0	0	0	1	0	13993	1652	57	3	1117	3	SEC23IP	10	121663791	Splice_Site	SNP	T	TCGA-CD-8536-01A-11D-2340-08	4961301	121663791	13870956	593	82410											
DMBT1	1755	broad.mit.edu	37	chr10	124345759	124345759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggccccaggaaatgcccGgtttggtcagggctcaggac	15	11	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:124345759G>A	uc001lgk.1	+	16	1749	c.1643G>A	c.(1642-1644)CGG>CAG	p.R548Q	DMBT1_uc001lgl.1_Missense_Mutation_p.R538Q|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.R548Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	548	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGAAATGCCCGGTTTGGTCAG	0.607													A	124345759	G	A	124345759	3	1	152	1	0	0	0	0	1	0	0	0	4577	1116	39	1	1705	1	DMBT1	10	124345759	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2681968	124345759	11188988	594	82411											
CHST15	51363	broad.mit.edu	37	chr10	125805647	125805647	+	Frame_Shift_Del	DEL	G	G	-													gcacgcctggtgaccgtgatGggggcccccttggcagttga							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:125805646_125805646TG>T	uc001lhn.3	-	1	817	c.83_83CA>A	c.(82-84)catfs	p.H28fs	CHST15_uc001lhm.3_Frame_Shift_Del_p.H28fs|CHST15_uc010que.2_Frame_Shift_Del_p.H28fs|CHST15_uc001lho.3_Frame_Shift_Del_p.H28fs	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	28					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GTGACCGTGATGGGGGCCCCC	0.547													-	125805647	G	-	125805647	7	5	152	1	0	1	0	1	0	0	0	0	3403	1348	47	0	1631	0	CHST15	10	125805647	Frame_Shift_Del	DEL	G	TCGA-CD-8536-01A-11D-2340-08	1459888	125805647	9729100	595	82412											
EBF3	253738	broad.mit.edu	37	chr10	131638585	131638585	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaccacgggcgcgaaggcGctcttctgtttcactgcgga	14	13	3	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:131638585G>A	uc001lki.1	-	15	1607	c.1548C>T	c.(1546-1548)AGC>AGT	p.S516S		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	561					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GCGCGAAGGCGCTCTTCTGTT	0.617													A	131638585	G	A	131638585	2	1	152	1	0	0	0	0	0	0	0	1	4882	1078	38	1		1	EBF3	10	131638585	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	5832938	131638585	3896162	596	82413											
IFITM2	10581	broad.mit.edu	37	chr11	308304	308304	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggggtgccccacaaccctGctcccccgatgtccaccgtg	11	18	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:308304G>T	uc001lox.3	+	1	198	c.112G>T	c.(112-114)GCT>TCT	p.A38S		NM_006435	NP_006426	Q01629	IFM2_HUMAN	interferon induced transmembrane protein 2	38	Extracellular (Potential).				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding				0		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCACAACCCTGCTCCCCCGAT	0.597													T	308304	G	T	308304	3	4	152	1	0	0	0	0	1	0	0	0	7527	1319	46	5	114	5	IFITM2	11	308304	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08		308304	134698212	597	82414											
MUC6	4588	broad.mit.edu	37	chr11	1018609	1018612	+	Frame_Shift_Del	DEL	TGTA	TGTA	-													gtgtggggtttggggcgttgTgtattcagtagtcgttcttg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:1018608_1018611GTGTA>G	uc001lsw.2	-	30	4241_4244	c.4190_4193TACAC>C	c.(4189-4194)tacacafs	p.Y1397fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1397	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGGGGCGTTGTGTATTCAGTAGT	0.603													-	1018612	TGTA	-	1018609	7	5	152	1	0	1	0	1	0	0	0	0	9980	1696	59	0	3139	0	MUC6	11	1018609	Frame_Shift_Del	DEL	TGTA	TCGA-CD-8536-01A-11D-2340-08	710305	1018609	133987907	598	82415											
MUC2	4583	broad.mit.edu	37	chr11	1086397	1086397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgagcaccaaccccgagCcctgcagcctgaacccgcac	9	18	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:1086397C>T	uc001lsx.1	+	23	3133	c.3106C>T	c.(3106-3108)CCC>TCC	p.P1036S		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	1036	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAACCCCGAGCCCTGCAGCCT	0.652													T	1086397	C	T	1086397	3	4	152	1	0	0	0	0	1	0	0	0	9975	739	26	2	3196	2	MUC2	11	1086397	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	67788	1086397	133920119	599	82416											
MUC2	4583	broad.mit.edu	37	chr11	1090843	1090843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggagatctgtggccccaaCgggacggtggagaagcactt	16	9	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:1090843C>T	uc001lsx.1	+	28	3765	c.3738C>T	c.(3736-3738)AAC>AAT	p.N1246N		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	1246						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GTGGCCCCAACGGGACGGTGG	0.448													T	1090843	C	T	1090843	2	4	152	1	0	0	0	0	0	0	0	1	9975	535	19	1		1	MUC2	11	1090843	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	4446	1090843	133915673	600	82417											
MUC5B	727897	broad.mit.edu	37	chr11	1267115	1267115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaccacagcagccactaCgaccgcaaccactggatcca	8	17	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:1267115C>T	uc009ycr.1	+	49	10880	c.10754C>T	c.(10753-10755)ACG>ATG	p.T3585M	MUC5B_uc001ltb.2_Missense_Mutation_p.T3005M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	3002	7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCAGCCACTACGACCGCAACC	0.682													T	1267115	C	T	1267115	3	4	152	1	0	0	0	0	1	0	0	0	9979	536	19	1	9136	1	MUC5B	11	1267115	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	176272	1267115	133739401	601	82418											
MUC5B	727897	broad.mit.edu	37	chr11	1276324	1276324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcgggacggaaccactGccgccagttgcaaggacatg	13	13	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:1276324G>A	uc009ycr.1	+	58	16855	c.16729G>A	c.(16729-16731)GCC>ACC	p.A5577T	MUC5B_uc001ltb.2_Missense_Mutation_p.A5243T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	5240	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGAACCACTGCCGCCAGTTG	0.677													A	1276324	G	A	1276324	3	1	152	1	0	0	0	0	1	0	0	0	9979	1319	46	2	15869	2	MUC5B	11	1276324	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	9209	1276324	133730192	602	82419											
OR52I2	143502	broad.mit.edu	37	chr11	4608694	4608694	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatagctttggccaggttaGcatgtgctgaccccgtgccc	11	13	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:4608694G>T	uc010qyh.1	+	1	652	c.652G>T	c.(652-654)GCA>TCA	p.A218S		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I,	218	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCAGGTTAGCATGTGCTGA	0.502													T	4608694	G	T	4608694	3	4	152	1	0	0	0	0	1	0	0	0	11121	971	34	5	654	5	OR52I2	11	4608694	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	3332370	4608694	130397822	603	82420											
OR52R1	119695	broad.mit.edu	37	chr11	4824881	4824881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacagatatgggaggaacGtgtgctaaaagctttgaggc	14	6	0	2	rs139182026		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:4824881G>A	uc010qym.1	-	1	967	c.967C>T	c.(967-969)CGT>TGT	p.R323C		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	244	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGGAGGAACGTGTGCTAAAA	0.468													A	4824881	G	A	4824881	3	1	152	1	0	0	0	0	1	0	0	0	11131	1145	40	1	220	1	OR52R1	11	4824881	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	216187	4824881	130181635	604	82421											
OR51G1	79324	broad.mit.edu	37	chr11	4944809	4944809	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaagccaatcatggggatgTagaagagcagtacagcacag	12	8	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:4944809T>C	uc010qyr.1	-	1	761	c.761A>G	c.(760-762)TAC>TGC	p.Y254C		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	254	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATGGGGATGTAGAAGAGCAG	0.547													C	4944809	T	C	4944809	3	2	152	1	0	0	0	0	1	0	0	0	11098	1638	57	3	206	3	OR51G1	11	4944809	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	119928	4944809	130061707	605	82422											
UBQLNL	143630	broad.mit.edu	37	chr11	5536502	5536502	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtattcttcttgaagctgCtgggtaagctctatgctagg	11	7	3	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:5536502C>T	uc001maz.3	-	1	1455	c.1170G>A	c.(1168-1170)CAG>CAA	p.Q390Q	HBG2_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	390										large_intestine(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CTTGAAGCTGCTGGGTAAGCT	0.507													T	5536502	C	T	5536502	2	4	152	1	0	0	0	0	0	0	0	1	16897	796	28	2		2	UBQLNL	11	5536502	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	591693	5536502	129470014	606	82423											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5624939	5624939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcaccacacgttcctcGtggaggaggttgcccaggag	15	11	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:5624939G>A	uc001mbf.2	+	2	725	c.481G>A	c.(481-483)GTG>ATG	p.V161M	HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.V107M|TRIM6_uc010qzj.1_Translation_Start_Site|TRIM6_uc001mbc.1_Missense_Mutation_p.V133M|TRIM6_uc001mbe.2_Translation_Start_Site|TRIM6_uc010qzk.1_Intron|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Missense_Mutation_p.V161M|TRIM6_uc001mbg.1_5'Flank|TRIM6_uc009yep.1_5'Flank	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN	tripartite motif-containing 6 and tripartite	161						intracellular	zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		CACGTTCCTCGTGGAGGAGGT	0.532													A	5624939	G	A	5624939	3	1	152	1	0	0	0	0	1	0	0	0	16531	1145	40	1	487	1	TRIM6-TRIM34	11	5624939	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	88437	5624939	129381577	607	82424											
OR2AG2	338755	broad.mit.edu	37	chr11	6789734	6789734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctatagcaatcagggatGccaggatccaggatgtggcc	13	10	1	0	rs144081005		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:6789734G>A	uc001meq.1	-	1	455	c.455C>T	c.(454-456)GCA>GTA	p.A152V		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AATCAGGGATGCCAGGATCCA	0.512													A	6789734	G	A	6789734	3	1	152	1	0	0	0	0	1	0	0	0	10985	1319	46	2	499	2	OR2AG2	11	6789734	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1164795	6789734	128216782	608	82425											
SCUBE2	57758	broad.mit.edu	37	chr11	9077443	9077443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacaggtcctatccaaagaGcactcatccacatctgtaat	5	13	3	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:9077443G>A	uc001mhh.1	-	10	1184	c.1104C>T	c.(1102-1104)TGC>TGT	p.C368C	SCUBE2_uc001mhi.1_Silent_p.C368C|SCUBE2_uc001mhj.1_Silent_p.C368C	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	368	EGF-like 8; calcium-binding (Potential).					extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TATCCAAAGAGCACTCATCCA	0.502													A	9077443	G	A	9077443	2	1	152	1	0	0	0	0	0	0	0	1	13945	963	34	2		2	SCUBE2	11	9077443	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2287709	9077443	125929073	609	82426											
SBF2	81846	broad.mit.edu	37	chr11	9861049	9861049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgacacacttacctccGgcagagtgaatacatcctgt	7	14	0	3	rs140550985		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:9861049G>A	uc001mib.2	-	26	3589	c.3451C>T	c.(3451-3453)CGG>TGG	p.R1151W	SBF2_uc001mif.3_Missense_Mutation_p.R907W|uc001mig.2_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1151	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ACTTACCTCCGGCAGAGTGAA	0.438													A	9861049	G	A	9861049	3	1	152	1	0	0	0	0	1	0	0	0	13859	1115	39	1	2158	1	SBF2	11	9861049	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	783606	9861049	125145467	610	82427											
PSMA1	5682	broad.mit.edu	37	chr11	14539248	14539248	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccaatatggttgtcaacaTggagaatttttttctgatga	8	5	2	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:14539248T>C	uc001mlk.2	-	4	340	c.194A>G	c.(193-195)CAT>CGT	p.H65R	PSMA1_uc001mll.2_Missense_Mutation_p.H71R|PSMA1_uc010rcp.1_RNA|PSMA1_uc001mlj.2_Missense_Mutation_p.H40R|PSMA1_uc010rcq.1_Missense_Mutation_p.H65R	NM_002786	NP_002777	P25786	PSA1_HUMAN	proteasome alpha 1 subunit isoform 2	65					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			upper_aerodigestive_tract(1)|skin(1)	2						GTTGTCAACATGGAGAATTTT	0.323													C	14539248	T	C	14539248	3	2	152	1	0	0	0	0	1	0	0	0	12666	1464	51	3	675	3	PSMA1	11	14539248	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	4678199	14539248	120467268	611	82428											
E2F8	79733	broad.mit.edu	37	chr11	19256297	19256297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctaccatctctcacctgcccGaaattccactccagggagtt	6	16	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:19256297G>A	uc001mpm.2	-	5	1282	c.760C>T	c.(760-762)CGG>TGG	p.R254W	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.R254W	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	254					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						TCACCTGCCCGAAATTCCACT	0.453													A	19256297	G	A	19256297	3	1	152	1	0	0	0	0	1	0	0	0	4873	1057	37	1	1879	1	E2F8	11	19256297	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	4717049	19256297	115750219	612	82429											
DGKZ	8525	broad.mit.edu	37	chr11	46400753	46400754	+	Splice_Site	INS	-	-	C													accacctccccttctccagcINSccccccagagatccttgatg					rs3832759		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:46400752_46400753G>GC	uc001ncn.1	+	30	3229	c.3104_splice	c.e30-1	p.A1035_splice	DGKZ_uc001nch.2_Splice_Site_p.A863_splice|DGKZ_uc010rgr.2_Splice_Site_p.A851_splice|DGKZ_uc001ncj.2_Splice_Site_p.A813_splice|DGKZ_uc001nck.2_Splice_Site_p.A625_splice|DGKZ_uc001ncm.2_Splice_Site_p.A846_splice|DGKZ_uc001ncl.2_Splice_Site_p.A847_splice|DGKZ_uc009yky.1_Splice_Site_p.A847_splice|DGKZ_uc010rgs.1_Splice_Site_p.A824_splice|MDK_uc009ykz.1_5'Flank|MDK_uc001nco.3_5'Flank|MDK_uc001ncp.3_5'Flank|MDK_uc009yla.3_5'Flank|MDK_uc009ylb.3_5'Flank|MDK_uc001ncq.3_5'Flank	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	1035					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCCTTCTCCAGCCCCCCCAGAG	0.649													C	46400754	-	C	46400753	8	5	152	1	0	1	1	0	0	0	1	0	4474	753	26	0	3665	0	DGKZ	11	46400753	Splice_Site	INS	-	TCGA-CD-8536-01A-11D-2340-08	27144456	46400753	88605763	613	82430											
AMBRA1	55626	broad.mit.edu	37	chr11	46568662	46568662	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatcttaaggaaatactcaCgtgtaaatcccaaatcctaa	5	9	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:46568662C>T	uc010rgu.1	-	4	738	c.378_splice	c.e4+1	p.H126_splice	AMBRA1_uc009ylc.1_Splice_Site_p.H126_splice|AMBRA1_uc001ncu.1_Splice_Site_p.H126_splice|AMBRA1_uc001ncv.2_Splice_Site_p.H126_splice|AMBRA1_uc001ncw.2_Splice_Site_p.H126_splice|AMBRA1_uc001ncx.2_Splice_Site_p.H126_splice	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated						autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GAAATACTCACGTGTAAATCC	0.323													T	46568662	C	T	46568662	5	4	152	1	0	0	0	0	0	0	1	0	565	550	19	1	3311	1	AMBRA1	11	46568662	Splice_Site	SNP	C	TCGA-CD-8536-01A-11D-2340-08	167909	46568662	88437854	614	82431											
HARBI1	283254	broad.mit.edu	37	chr11	46625117	46625117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattagctcctgacgaataCggtcagcctctaagtccagg	10	12	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:46625117C>T	uc001ncy.2	-	3	1261	c.1013G>A	c.(1012-1014)CGT>CAT	p.R338H		NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	338						cytoplasm|nucleus	metal ion binding|nuclease activity				0						CTGACGAATACGGTCAGCCTC	0.512													T	46625117	C	T	46625117	3	4	152	1	0	0	0	0	1	0	0	0	6958	536	19	1	40	1	HARBI1	11	46625117	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	56455	46625117	88381399	615	82432											
OR4B1	119765	broad.mit.edu	37	chr11	48238420	48238420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccttttccaggatccagCtgtgcagagtgtatgctttg	12	9	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:48238420C>T	uc010rhs.1	+	1	59	c.59C>T	c.(58-60)GCT>GTT	p.A20V		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|pancreas(1)	4						CAGGATCCAGCTGTGCAGAGT	0.507													T	48238420	C	T	48238420	3	4	152	1	0	0	0	0	1	0	0	0	11044	797	28	2	61	2	OR4B1	11	48238420	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1613303	48238420	86768096	616	82433											
OR4B1	119765	broad.mit.edu	37	chr11	48239022	48239022	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcttatattgtcattctgGtcaacttgaggaaccattct	6	10	5	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:48239022G>T	uc010rhs.1	+	1	661	c.661G>T	c.(661-663)GTC>TTC	p.V221F		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B,	221	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|pancreas(1)	4						TGTCATTCTGGTCAACTTGAG	0.473													T	48239022	G	T	48239022	3	4	152	1	0	0	0	0	1	0	0	0	11044	1261	44	5	663	5	OR4B1	11	48239022	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	602	48239022	86767494	617	82434											
OR10AG1	282770	broad.mit.edu	37	chr11	55735257	55735257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgagcaggtggagaagGctttagcctttcctctggct	14	8	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:55735257G>A	uc010rit.1	-	1	683	c.683C>T	c.(682-684)GCC>GTC	p.A228V		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG,	228	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.0137)					GGTGGAGAAGGCTTTAGCCTT	0.398													A	55735257	G	A	55735257	3	1	152	1	0	0	0	0	1	0	0	0	10897	1203	42	2	225	2	OR10AG1	11	55735257	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	7496235	55735257	79271259	618	82435											
OR5J2	282775	broad.mit.edu	37	chr11	55944532	55944532	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgtgtggagcttgtcacaGgatcatggataggtggaata	15	4	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:55944532G>T	uc010rjb.1	+	1	439	c.439G>T	c.(439-441)GGA>TGA	p.G147*		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	147	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					GCTTGTCACAGGATCATGGAT	0.453													T	55944532	G	T	55944532	4	4	152	1	0	0	0	0	0	1	0	0	11165	1001	35	5	441	5	OR5J2	11	55944532	Nonsense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	209275	55944532	79061984	619	82436											
OR5T1	390155	broad.mit.edu	37	chr11	56043969	56043969	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttcggacaatgacatgatAgtgtcaatattttataccat	6	7	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:56043969A>G	uc001nio.1	+	1	855	c.855A>G	c.(853-855)ATA>ATG	p.I285M		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					ATGACATGATAGTGTCAATAT	0.408													G	56043969	A	G	56043969	3	3	152	1	0	0	0	0	1	0	0	0	11181	410	15	3	857	3	OR5T1	11	56043969	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	99437	56043969	78962547	620	82437											
CTNND1	1500	broad.mit.edu	37	chr11	57569589	57569590	+	Frame_Shift_Ins	INS	-	-	A													aggataacaagattgccataINSaaaaactgtgatggtgtgcc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:57569588_57569589T>TA	uc001nmc.4	+	6	1911_1912	c.1340_1341T>TA	c.(1339-1341)atafs	p.I447fs	CTNND1_uc001nlf.2_Frame_Shift_Ins_p.I447fs|CTNND1_uc021qjk.1_Frame_Shift_Ins_p.I447fs|CTNND1_uc001nlh.1_Frame_Shift_Ins_p.I447fs|CTNND1_uc001nlj.4_Frame_Shift_Ins_p.I393fs|CTNND1_uc001nlq.4_Frame_Shift_Ins_p.I346fs|CTNND1_uc001nlr.4_Frame_Shift_Ins_p.I393fs|CTNND1_uc001nln.4_Frame_Shift_Ins_p.I447fs|CTNND1_uc001nli.4_Frame_Shift_Ins_p.I447fs|CTNND1_uc001nlo.4_Frame_Shift_Ins_p.I346fs|CTNND1_uc001nlp.4_Frame_Shift_Ins_p.I393fs|CTNND1_uc001nlu.4_Frame_Shift_Ins_p.I346fs|CTNND1_uc001nlt.4_Frame_Shift_Ins_p.I346fs|CTNND1_uc001nlv.4_Frame_Shift_Ins_p.I346fs|CTNND1_uc001nls.4_Frame_Shift_Ins_p.I346fs|CTNND1_uc001nlw.4_Frame_Shift_Ins_p.I346fs|CTNND1_uc001nmf.4_Frame_Shift_Ins_p.I447fs|CTNND1_uc001nlx.4_Frame_Shift_Ins_p.I124fs|CTNND1_uc001nlz.4_Frame_Shift_Ins_p.I124fs|CTNND1_uc009ymn.3_Frame_Shift_Ins_p.I124fs|CTNND1_uc001nly.4_Frame_Shift_Ins_p.I124fs|CTNND1_uc001nmb.4_Frame_Shift_Ins_p.I124fs|CTNND1_uc001nma.4_Frame_Shift_Ins_p.I124fs|CTNND1_uc001nmd.4_Frame_Shift_Ins_p.I393fs|CTNND1_uc001nlk.4_Frame_Shift_Ins_p.I393fs|CTNND1_uc001nme.4_Frame_Shift_Ins_p.I447fs|CTNND1_uc001nll.4_Frame_Shift_Ins_p.I393fs|CTNND1_uc001nlm.4_Frame_Shift_Ins_p.I447fs|CTNND1_uc001nmi.4_Frame_Shift_Ins_p.I346fs|CTNND1_uc001nmg.4_Frame_Shift_Ins_p.I393fs|CTNND1_uc001nmh.4_Frame_Shift_Ins_p.I447fs	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	447					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AAGATTGCCATAAAAAACTGTG	0.465													A	57569590	-	A	57569589	7	5	152	1	0	1	1	0	0	0	0	0	4019	352	13	0	1359	0	CTNND1	11	57569589	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	1525620	57569589	77436927	621	82438											
FAM111A	63901	broad.mit.edu	37	chr11	58920252	58920252	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaactacgggttacgccAcctgctttgtttttaaagga	10	9	0	0	rs143839121	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:58920252A>G	uc010rkp.1	+	5	1338	c.1111A>G	c.(1111-1113)ACC>GCC	p.T371A	FAM111A_uc010rkq.1_Missense_Mutation_p.T371A|FAM111A_uc010rkr.1_Missense_Mutation_p.T371A|FAM111A_uc001nno.2_Missense_Mutation_p.T371A|FAM111A_uc001nnp.2_Missense_Mutation_p.T371A|FAM111A_uc001nnq.2_Missense_Mutation_p.T371A	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN	hypothetical protein LOC63901	371					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_epithelial(135;0.139)				GGGTTACGCCACCTGCTTTGT	0.398													G	58920252	A	G	58920252	3	3	152	1	0	0	0	0	1	0	0	0	5399	159	6	3	1117	3	FAM111A	11	58920252	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	1350663	58920252	76086264	622	82439											
MPEG1	219972	broad.mit.edu	37	chr11	58980175	58980175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtcccatgtccacattcCgcagattgtcccagccccct	6	19	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:58980175C>T	uc001nnu.3	-	1	320	c.164G>A	c.(163-165)CGG>CAG	p.R55Q		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	55	MACPF.|Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)				GTCCACATTCCGCAGATTGTC	0.488													T	58980175	C	T	58980175	3	4	152	1	0	0	0	0	1	0	0	0	9723	652	23	1	1990	1	MPEG1	11	58980175	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	59923	58980175	76026341	623	82440											
OR4D6	219983	broad.mit.edu	37	chr11	59224768	59224768	+	Frame_Shift_Del	DEL	T	T	-													ctttgctggtggggcagataTttttttcctctctgtgatgg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:59224767_59224767AT>A	uc010rku.2	+	0	334	c.334_334AT>A	c.(334-336)attfs	p.I112fs		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TGGGGCAGATATTTTTTTCCT	0.483													-	59224768	T	-	59224768	7	5	152	1	0	1	0	1	0	0	0	0	11058	1493	52	0	337	0	OR4D6	11	59224768	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	244593	59224768	75781748	624	82441											
SLC15A3	51296	broad.mit.edu	37	chr11	60718798	60718798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcccaggaataccagcgCggcgcgcgtcgcctgctcgc	15	17	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:60718798C>T	uc001nqn.2	-	1	460	c.226G>A	c.(226-228)GCG>ACG	p.A76T	SLC15A3_uc001nqo.2_Missense_Mutation_p.A76T	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	solute carrier family 15, member 3	76	Helical; (Potential).				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0						AATACCAGCGCGGCGCGCGTC	0.706													T	60718798	C	T	60718798	3	4	152	1	0	0	0	0	1	0	0	0	14400	768	27	1	1551	1	SLC15A3	11	60718798	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1494030	60718798	74287718	625	82442											
DDB1	1642	broad.mit.edu	37	chr11	61091539	61091539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcagcatgaagagccggCcttccatgtctcccagcagg	11	13	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:61091539C>T	uc001nrc.3	-	7	1059	c.833G>A	c.(832-834)GGC>GAC	p.G278D	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.G278D|DDB1_uc010rlg.1_RNA|DDB1_uc001nrd.2_Missense_Mutation_p.G278D|DDB1_uc009ynl.1_Missense_Mutation_p.G165D	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	278	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						GAAGAGCCGGCCTTCCATGTC	0.507								NER					T	61091539	C	T	61091539	3	4	152	1	0	0	0	0	1	0	0	0	4323	739	26	2	2673	2	DDB1	11	61091539	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	372741	61091539	73914977	626	82443											
ROM1	6094	broad.mit.edu	37	chr11	62381298	62381298	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggattggtttggggtccagtGggtcagcagccgttacctgg	17	8	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:62381298G>T	uc001ntv.2	+	1	1086	c.545G>T	c.(544-546)TGG>TTG	p.W182L	EML3_uc001ntr.1_5'Flank|EML3_uc001nts.1_5'Flank|EML3_uc001ntt.1_5'Flank|EML3_uc001ntu.1_5'Flank|EML3_uc010rly.1_5'Flank|EML3_uc009yny.1_5'Flank	NM_000327	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	182	Lumenal (Potential).				cell adhesion|visual perception	integral to plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						GGGGTCCAGTGGGTCAGCAGC	0.622													T	62381298	G	T	62381298	3	4	152	1	0	0	0	0	1	0	0	0	13521	1357	47	5	547	5	ROM1	11	62381298	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1289759	62381298	72625218	627	82444											
ATL3	25923	broad.mit.edu	37	chr11	63420050	63420050	+	Splice_Site	DEL	A	A	-													catcagaacaactgcaacctAaaaaaaaggaaaatacaaac							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:63420049_63420049TA>T	uc001nxk.1	-	4	682	c.406_splice	c.e4-1	p.V136_splice	ATL3_uc010rms.1_Splice_Site_p.V118_splice	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	Homo sapiens atlastin GTPase 3 (ATL3), mRNA.	136					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AACTGCAACCTAAAAAAAAGG	0.373													-	63420050	A	-	63420050	8	5	152	1	0	1	0	1	0	0	1	0	1108	377	13	0		0	ATL3	11	63420050	Splice_Site	DEL	A	TCGA-CD-8536-01A-11D-2340-08	1038752	63420050	71586466	628	82445											
PLCB3	5331	broad.mit.edu	37	chr11	64033379	64033379	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtggggccgctgatgtggaGgacacgaaggagggggagga	23	5	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:64033379G>T	uc001nzb.2	+	26	3057	c.3057G>T	c.(3055-3057)GAG>GAT	p.E1019D	PLCB3_uc009ypg.1_Missense_Mutation_p.E1019D|PLCB3_uc009yph.1_Missense_Mutation_p.E952D|PLCB3_uc009ypi.2_Missense_Mutation_p.E1019D	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	1019					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						CTGATGTGGAGGACACGAAGG	0.652													T	64033379	G	T	64033379	3	4	152	1	0	0	0	0	1	0	0	0	12029	991	35	5	3159	5	PLCB3	11	64033379	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	613329	64033379	70973137	629	82446											
NRXN2	9379	broad.mit.edu	37	chr11	64428312	64428312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgacagacgcccccattgcGacagggggcagatgcacact	12	14	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:64428312G>A	uc001oar.2	-	11	2537	c.2098C>T	c.(2098-2100)CGC>TGC	p.R700C	NRXN2_uc001oas.2_Missense_Mutation_p.R669C|NRXN2_uc001oaq.2_Missense_Mutation_p.R367C	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:Variant_position_missing_in_P58401_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						CCCCCATTGCGACAGGGGGCA	0.647													A	64428312	G	A	64428312	3	1	152	1	0	0	0	0	1	0	0	0	10666	1058	37	1	3365	1	NRXN2	11	64428312	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	394933	64428312	70578204	630	82447											
PYGM	5837	broad.mit.edu	37	chr11	64521044	64521044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacgccgttgacggcgtgCgaccccgcgatgcacaggtg	15	15	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:64521044C>T	uc001oax.3	-	11	2167	c.1350G>A	c.(1348-1350)TCG>TCA	p.S450S	PYGM_uc001oay.3_Silent_p.S362S	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	450					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	TGACGGCGTGCGACCCCGCGA	0.662													T	64521044	C	T	64521044	2	4	152	1	0	0	0	0	0	0	0	1	12862	755	27	1		1	PYGM	11	64521044	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	92732	64521044	70485472	631	82448											
SF1	7536	broad.mit.edu	37	chr11	64533508	64533508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaccccggggggcagggGcaccatagtggggttgcctt	18	11	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:64533508G>A	uc001obb.1	-	13	2079	c.1702C>T	c.(1702-1704)CCC>TCC	p.P568S	SF1_uc010rnm.1_Intron|SF1_uc010rnn.1_Missense_Mutation_p.P542S|SF1_uc001oaz.1_Intron|SF1_uc001oba.1_Missense_Mutation_p.P568S|SF1_uc001obc.1_Intron|SF1_uc001obd.1_Intron|SF1_uc001obe.1_Intron|SF1_uc010rno.1_Intron	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	568	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3						GGGGGCAGGGGCACCATAGTG	0.731													A	64533508	G	A	64533508	3	1	152	1	0	0	0	0	1	0	0	0	14145	1203	42	2	355	2	SF1	11	64533508	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	12464	64533508	70473008	632	82449											
CDC42BPG	55561	broad.mit.edu	37	chr11	64603962	64603962	+	Frame_Shift_Del	DEL	C	C	-													cctgggctaccagctgggggCccatccgtctgggacaatga							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:64603961_64603961GC>G	uc001obs.4	-	11	1426	c.1426_1426GC>C	c.(1426-1428)cccfs	p.P476fs		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	476					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CCAGCTGGGGGCCCATCCGTC	0.647											OREG0004017	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	-	64603962	C	-	64603962	7	5	152	1	0	1	0	1	0	0	0	0	3074	726	26	0	3334	0	CDC42BPG	11	64603962	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	70454	64603962	70402554	633	82450											
SCYL1	57410	broad.mit.edu	37	chr11	65303573	65303573	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatcctgcctgtgctctgCggtctcactgtagatcctga	10	12	2	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:65303573C>T	uc001oea.1	+	11	1613	c.1536C>T	c.(1534-1536)TGC>TGT	p.C512C	SCYL1_uc009yqk.2_Silent_p.C512C|SCYL1_uc001oeb.1_Silent_p.C512C|SCYL1_uc001oec.1_Silent_p.C512C|SCYL1_uc001oed.1_Silent_p.C369C|SCYL1_uc001oee.1_Silent_p.C156C	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A	512	HEAT 3.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			skin(1)	1						CTGTGCTCTGCGGTCTCACTG	0.622													T	65303573	C	T	65303573	2	4	152	1	0	0	0	0	0	0	0	1	13947	776	27	1		1	SCYL1	11	65303573	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	699611	65303573	69702943	634	82451											
SIPA1	6494	broad.mit.edu	37	chr11	65408600	65408600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgccagccagcccccgtGcccgtgcccacagccacgaa	9	22	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:65408600G>A	uc001ofb.2	+	2	375	c.208G>A	c.(208-210)GCC>ACC	p.A70T	SIPA1_uc010rom.1_Missense_Mutation_p.A70T|SIPA1_uc001ofd.2_Missense_Mutation_p.A70T	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	70					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity				0						CAGCCCCCGTGCCCGTGCCCA	0.726													A	65408600	G	A	65408600	3	1	152	1	0	0	0	0	1	0	0	0	14328	1319	46	2	210	2	SIPA1	11	65408600	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	105027	65408600	69597916	635	82452											
TMEM151A	256472	broad.mit.edu	37	chr11	66061883	66061883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgctcatccacgcctgcGgggccgtggtggcctggtgt	16	14	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:66061883G>A	uc001ohl.2	+	2	278	c.166G>A	c.(166-168)GGG>AGG	p.G56R		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	56	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1						CCACGCCTGCGGGGCCGTGGT	0.736													A	66061883	G	A	66061883	3	1	152	1	0	0	0	0	1	0	0	0	16067	1116	39	1	172	1	TMEM151A	11	66061883	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	653283	66061883	68944633	636	82453											
PC	5091	broad.mit.edu	37	chr11	66638824	66638824	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cccgggcctccaccttgtctCccatcttgcggaccacttct	7	19	3	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:66638824C>A	uc001ojn.1	-	4	498	c.449G>T	c.(448-450)GGA>GTA	p.G150V	PC_uc001ojo.1_Missense_Mutation_p.G150V|PC_uc001ojp.1_Missense_Mutation_p.G150V	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	150	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CACCTTGTCTCCCATCTTGCG	0.652													A	66638824	C	A	66638824	3	1	152	1	0	0	0	0	1	0	0	0	11497	855	30	5	3159	5	PC	11	66638824	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	576941	66638824	68367692	637	82454											
LRP5	4041	broad.mit.edu	37	chr11	68125148	68125148	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacagactggggtgagacGccccggattgagcgggcagg	19	9	0	3	rs148128016		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:68125148G>A	uc001ont.2	+	3	594	c.519G>A	c.(517-519)ACG>ACA	p.T173T	LRP5_uc009ysg.2_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	173	Beta-propeller 1.|LDL-receptor class B 3.|Extracellular (Potential).		T -> M (in EVR4; an individual with abnormal retinal vasculature and retinal folds).		adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						GGGGTGAGACGCCCCGGATTG	0.547													A	68125148	G	A	68125148	2	1	152	1	0	0	0	0	0	0	0	1	8960	1074	38	1		1	LRP5	11	68125148	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1486324	68125148	66881368	638	82455											
LRP5	4041	broad.mit.edu	37	chr11	68131241	68131241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtggagggcagcctgaCgcaccccttcgccctgacgc	15	15	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:68131241C>T	uc001ont.2	+	4	788	c.713C>T	c.(712-714)ACG>ATG	p.T238M	LRP5_uc009ysg.2_Translation_Start_Site	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	238	Beta-propeller 1.|LDL-receptor class B 4.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						GGCAGCCTGACGCACCCCTTC	0.632													T	68131241	C	T	68131241	3	4	152	1	0	0	0	0	1	0	0	0	8960	536	19	1	727	1	LRP5	11	68131241	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	6093	68131241	66875275	639	82456											
CPT1A	1374	broad.mit.edu	37	chr11	68579908	68579908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacaggattacttacgccGtttccagagtccgattgatt	8	10	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:68579908G>A	uc001oog.3	-	3	448	c.278C>T	c.(277-279)ACG>ATG	p.T93M	CPT1A_uc001oof.3_Missense_Mutation_p.T93M|CPT1A_uc009ysj.2_Missense_Mutation_p.T93M	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	93	Mitochondrial intermembrane (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	TACTTACGCCGTTTCCAGAGT	0.433													A	68579908	G	A	68579908	3	1	152	1	0	0	0	0	1	0	0	0	3831	1145	40	1	2151	1	CPT1A	11	68579908	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	448667	68579908	66426608	640	82457											
MYEOV	26579	broad.mit.edu	37	chr11	69063152	69063152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccggcagatcccggggcCgcctctgtctctcccaggcc	12	18	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:69063152C>T	uc001oov.2	+	3	685	c.235C>T	c.(235-237)CGC>TGC	p.R79C	MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.R79C|MYEOV_uc001oow.2_Missense_Mutation_p.R21C	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	79											0	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		ATCCCGGGGCCGCCTCTGTCT	0.617													T	69063152	C	T	69063152	3	4	152	1	0	0	0	0	1	0	0	0	10025	652	23	1	241	1	MYEOV	11	69063152	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	483244	69063152	65943364	641	82458											
INPPL1	3636	broad.mit.edu	37	chr11	71948520	71948520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttaccagggccagtggtcCggggccgtggtggggctgag	19	10	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:71948520C>T	uc001osf.2	+	26	3379	c.3232C>T	c.(3232-3234)CGG>TGG	p.R1078W	INPPL1_uc001osg.2_Missense_Mutation_p.R836W	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1078	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						GCCAGTGGTCCGGGGCCGTGG	0.687													T	71948520	C	T	71948520	3	4	152	1	0	0	0	0	1	0	0	0	7761	643	23	1	3334	1	INPPL1	11	71948520	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	2885368	71948520	63057996	642	82459											
ARAP1	116985	broad.mit.edu	37	chr11	72415237	72415237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaaagagcgggtggtagCggcggtacttgccctcacgg	16	11	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:72415237C>T	uc001osu.2	-	14	2141	c.1952G>A	c.(1951-1953)CGC>CAC	p.R651H	ARAP1_uc001osv.2_Missense_Mutation_p.R651H|ARAP1_uc001osr.2_Missense_Mutation_p.R411H|ARAP1_uc001oss.2_Missense_Mutation_p.R406H|ARAP1_uc009yth.2_Intron|ARAP1_uc010rre.1_Missense_Mutation_p.R406H|ARAP1_uc001osw.1_5'Flank	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	651	Arf-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						CGGGTGGTAGCGGCGGTACTT	0.682													T	72415237	C	T	72415237	3	4	152	1	0	0	0	0	1	0	0	0	838	768	27	1	2488	1	ARAP1	11	72415237	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	466717	72415237	62591279	643	82460											
MYO7A	4647	broad.mit.edu	37	chr11	76909568	76909568	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccccaagaacgacgtcatCgtggccgtcaactggacggg	12	14	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:76909568C>T	uc001oyb.2	+	34	4742	c.4470C>T	c.(4468-4470)ATC>ATT	p.I1490I	MYO7A_uc010rsm.1_Silent_p.I1479I|MYO7A_uc001oyc.2_Silent_p.I1490I|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Silent_p.I701I	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1490	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						ACGACGTCATCGTGGCCGTCA	0.577													T	76909568	C	T	76909568	2	4	152	1	0	0	0	0	0	0	0	1	10082	874	31	1		1	MYO7A	11	76909568	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	4494331	76909568	58096948	644	82461											
DLG2	1740	broad.mit.edu	37	chr11	83676478	83676479	+	Frame_Shift_Del	DEL	CG	CG	-													taatattgctactgcctcttCgtgtgttacttcttctaaac							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:83676477_83676478TCG>T	uc001paj.2	-	7	1078_1079	c.775_776CGA>A	c.(775-777)gaafs	p.E259fs	DLG2_uc001pai.2_Frame_Shift_Del_p.E208fs|DLG2_uc010rsy.1_Frame_Shift_Del_p.E226fs|DLG2_uc021qof.1_Frame_Shift_Del_p.E298fs|DLG2_uc010rsz.1_Frame_Shift_Del_p.E259fs|DLG2_uc010rta.1_Frame_Shift_Del_p.E259fs|DLG2_uc001pak.2_Frame_Shift_Del_p.E364fs|DLG2_uc010rtb.1_Frame_Shift_Del_p.E226fs|DLG2_uc001pal.1_Frame_Shift_Del_p.E259fs|DLG2_uc001pam.2_Frame_Shift_Del_p.E298fs	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	259	PDZ 2.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TACTGCCTCTTCGTGTGTTACT	0.351													-	83676479	CG	-	83676478	7	5	152	1	0	1	0	1	0	0	0	0	4555	893	31	0	1951	0	DLG2	11	83676478	Frame_Shift_Del	DEL	CG	TCGA-CD-8536-01A-11D-2340-08	6766910	83676478	51330038	645	82462											
EED	8726	broad.mit.edu	37	chr11	85967554	85967554	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataacaatgcagtgtataaaGgtgggtttttctggttaaat	10	3	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:85967554G>T	uc001pbp.2	+	5	1009	c.552G>T	c.(550-552)AAG>AAT	p.K184N	EED_uc010rtm.1_Missense_Mutation_p.K184N|EED_uc001pbq.2_Missense_Mutation_p.K184N|EED_uc001pbr.2_Missense_Mutation_p.K184N|EED_uc001pbs.2_Missense_Mutation_p.K184N|EED_uc010rtn.1_5'Flank	NM_003797	NP_003788	O75530	EED_HUMAN	embryonic ectoderm development isoform a	184	Interaction with EZH2 (By similarity).|WD 2.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			skin(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				AGTGTATAAAGGTGGGTTTTT	0.343													T	85967554	G	T	85967554	3	4	152	1	0	0	0	0	1	0	0	0	4922	1014	35	5	570	5	EED	11	85967554	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2291076	85967554	49038962	646	82463											
DCUN1D5	84259	broad.mit.edu	37	chr11	102953515	102953516	+	Frame_Shift_Ins	INS	-	-	A													ttaaccattcttccttggtaINSaaaaatcccatgctttcagc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:102953514_102953515T>TA	uc001phm.3	-	3	646_647	c.303_304A>TA	c.(301-306)tttaccfs	p.F101fs	DCUN1D5_uc010ruw.2_Frame_Shift_Ins_p.F32fs	NM_032299	NP_115675	Q9BTE7	DCNL5_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 5 (S. cerevisiae) (DCUN1D5), mRNA.	101	DCUN1.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		TCTTCCTTGGTAAAAAATCCCA	0.317													A	102953516	-	A	102953515	7	5	152	1	0	1	1	0	0	0	0	0	4317	359	13	0	430	0	DCUN1D5	11	102953515	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	16985961	102953515	32053001	647	82464											
DDI1	414301	broad.mit.edu	37	chr11	103907674	103907674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcggagtccagagtccccGtcgaagagatccagatcatc	11	12	1	3	rs147776291	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:103907674G>A	uc001phr.2	+	1	367	c.124G>A	c.(124-126)GTC>ATC	p.V42I	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	42	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CAGAGTCCCCGTCGAAGAGAT	0.577													A	103907674	G	A	103907674	3	1	152	1	0	0	0	0	1	0	0	0	4328	1145	40	1	126	1	DDI1	11	103907674	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	954159	103907674	31098842	648	82465											
DDI1	414301	broad.mit.edu	37	chr11	103907993	103907993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccccgccctgatccgcaGcatgctgctctccaaccccc	7	22	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:103907993G>A	uc001phr.2	+	1	686	c.443G>A	c.(442-444)AGC>AAC	p.S148N	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	148					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CTGATCCGCAGCATGCTGCTC	0.657													A	103907993	G	A	103907993	3	1	152	1	0	0	0	0	1	0	0	0	4328	971	34	2	445	2	DDI1	11	103907993	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	319	103907993	31098523	649	82466											
CWF19L2	143884	broad.mit.edu	37	chr11	107219738	107219739	+	Frame_Shift_Ins	INS	-	-	C													aagggactatcaggcagtgcINSccctcagtaagagaccgtac							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:107219737_107219738G>GC	uc010rvp.2	-	13	2157_2158	c.2127_2128C>GC	c.(2125-2130)gggcacfs	p.G709fs	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	709							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ATCAGGCAGTGCCCCTCAGTAA	0.366													C	107219739	-	C	107219738	7	5	152	1	0	1	1	0	0	0	0	0	4072	726	26	0	577	0	CWF19L2	11	107219738	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	3311745	107219738	27786778	650	82467											
ARHGAP20	57569	broad.mit.edu	37	chr11	110451712	110451712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcttggattcaagaggcCgtttcatttgaacatcttca	9	10	4	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:110451712C>T	uc001pkz.1	-	16	2243	c.1958G>A	c.(1957-1959)CGG>CAG	p.R653Q	ARHGAP20_uc001pky.1_Missense_Mutation_p.R630Q|ARHGAP20_uc009yyb.1_Missense_Mutation_p.R617Q|ARHGAP20_uc001pla.1_Missense_Mutation_p.R617Q|ARHGAP20_uc001plb.2_Missense_Mutation_p.R196Q	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	653					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TTCAAGAGGCCGTTTCATTTG	0.502													T	110451712	C	T	110451712	3	4	152	1	0	0	0	0	1	0	0	0	870	652	23	1	1621	1	ARHGAP20	11	110451712	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	3231974	110451712	24554804	651	82468											
SIK2	23235	broad.mit.edu	37	chr11	111594401	111594401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacccagcccctgagccccGtcctggagccttcctccgag	10	19	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:111594401G>A	uc001plt.2	+	15	2447	c.2329G>A	c.(2329-2331)GTC>ATC	p.V777I		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	777					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						CCTGAGCCCCGTCCTGGAGCC	0.657													A	111594401	G	A	111594401	3	1	152	1	0	0	0	0	1	0	0	0	14318	1145	40	1	2387	1	SIK2	11	111594401	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1142689	111594401	23412115	652	82469											
UBE4A	9354	broad.mit.edu	37	chr11	118253321	118253321	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgaagaatccccaccTgagggccaaactagcagagg	11	11	0	5			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:118253321T>G	uc001psw.2	+	13	2156	c.2027T>G	c.(2026-2028)CTG>CGG	p.L676R	UBE4A_uc001psv.2_Missense_Mutation_p.L683R	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	676					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AATCCCCACCTGAGGGCCAAA	0.463													G	118253321	T	G	118253321	3	3	152	1	0	0	0	0	1	0	0	0	16879	1580	55	5	2094	5	UBE4A	11	118253321	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	6658920	118253321	16753195	653	82470											
CHEK1	1111	broad.mit.edu	37	chr11	125499188	125499188	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccatcaactcatggcaggGgtggtaggtatagttgtcta	12	7	3	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:125499188G>T	uc009zbo.2	+	4	1243	c.351G>T	c.(349-351)GGG>GGT	p.G117G	CHEK1_uc010sbh.1_Silent_p.G133G|CHEK1_uc010sbi.1_Silent_p.G117G|CHEK1_uc001qcf.3_Silent_p.G117G|CHEK1_uc009zbp.2_Silent_p.G117G|CHEK1_uc001qcg.3_Silent_p.G117G|CHEK1_uc009zbq.2_Silent_p.G117G|CHEK1_uc001qci.1_RNA	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	checkpoint kinase 1	117	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|skin(1)	6	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TCATGGCAGGGGTGGTAGGTA	0.363								Other_conserved_DNA_damage_response_genes					T	125499188	G	T	125499188	2	4	152	1	0	0	0	0	0	0	0	1	3334	1219	43	5		5	CHEK1	11	125499188	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	7245867	125499188	9507328	654	82471											
ST3GAL4	6484	broad.mit.edu	37	chr11	126276430	126276430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtggtattccatctccCgggaagacaggtacatcgag	13	9	1	1	rs11559148		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:126276430C>T	uc001qds.2	+	3	298	c.79C>T	c.(79-81)CGG>TGG	p.R27W	ST3GAL4_uc001qdt.2_Missense_Mutation_p.R27W|ST3GAL4_uc009zcc.2_5'UTR|ST3GAL4_uc009zcd.2_Missense_Mutation_p.R16W|ST3GAL4_uc001qdu.2_Missense_Mutation_p.R27W|ST3GAL4_uc001qdv.2_Missense_Mutation_p.R27W|ST3GAL4_uc009zce.2_Missense_Mutation_p.R27W|ST3GAL4_uc001qdw.2_Missense_Mutation_p.R16W|ST3GAL4_uc001qdx.1_Missense_Mutation_p.R16W|ST3GAL4_uc001qdy.2_5'Flank|ST3GAL4_uc001qdz.2_5'Flank	NM_006278	NP_006269	Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	27	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		TTCCATCTCCCGGGAAGACAG	0.577													T	126276430	C	T	126276430	3	4	152	1	0	0	0	0	1	0	0	0	15216	643	23	1	85	1	ST3GAL4	11	126276430	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	777242	126276430	8730086	655	82472											
ETS1	2113	broad.mit.edu	37	chr11	128354758	128354758	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacatgttgtctggggtgacGacttcttgtttgatagcaaa	11	7	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:128354758G>A	uc010sbs.1	-	5	1006	c.690C>T	c.(688-690)GTC>GTT	p.V230V	ETS1_uc001qej.2_Silent_p.V274V|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Silent_p.V230V	NM_005238	NP_005229	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	230					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(4)|central_nervous_system(1)|pleura(1)	6	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		CTGGGGTGACGACTTCTTGTT	0.468													A	128354758	G	A	128354758	2	1	152	1	0	0	0	0	0	0	0	1	5275	1045	37	1		1	ETS1	11	128354758	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2078328	128354758	6651758	656	82473											
MLF2	8079	broad.mit.edu	37	chr12	6858098	6858098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggggacgctgctgccGgaatcgggaggtctcccgcc	15	15	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:6858098G>A	uc010sfi.1	-	8	673	c.610C>T	c.(610-612)CGG>TGG	p.R204W	MLF2_uc001qqp.2_Missense_Mutation_p.R204W|MLF2_uc009zey.1_Missense_Mutation_p.R204W	NM_005439	NP_005430	Q15773	MLF2_HUMAN	myeloid leukemia factor 2	204					defense response	cytoplasm|nucleus	protein binding			large_intestine(1)	1						CGCTGCTGCCGGAATCGGGAG	0.687													A	6858098	G	A	6858098	3	1	152	1	0	0	0	0	1	0	0	0	9616	1115	39	1	140	1	MLF2	12	6858098	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08		6858098	126993797	657	82474											
GPR162	27239	broad.mit.edu	37	chr12	6935984	6935984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacctgggacaaagacacaGgttggaggacgaggaggacg	17	7	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:6935984G>A	uc001qqw.1	+	5	1917	c.1382G>A	c.(1381-1383)AGG>AAG	p.R461K	LEPREL2_uc001qqz.1_5'Flank|LEPREL2_uc001qra.1_5'Flank|LEPREL2_uc001qrb.1_5'Flank|GPR162_uc001qqx.1_Missense_Mutation_p.R177K|GPR162_uc009zfd.1_Missense_Mutation_p.R157K|GPR162_uc001qqy.1_Intron	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	461	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CAAAGACACAGGTTGGAGGAC	0.637													A	6935984	G	A	6935984	3	1	152	1	0	0	0	0	1	0	0	0	6666	1000	35	4	1415	4	GPR162	12	6935984	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	77886	6935984	126915911	658	82475											
PTPN6	5777	broad.mit.edu	37	chr12	7063999	7063999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacatgtctggcgggcagGcagagacgctgctgcaggcc	16	13	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:7063999G>A	uc001qsb.2	+	4	600	c.358G>A	c.(358-360)GCA>ACA	p.A120T	PTPN6_uc001qsa.1_Missense_Mutation_p.A122T|PTPN6_uc010sfr.1_Missense_Mutation_p.A81T|PTPN6_uc009zfl.1_Missense_Mutation_p.A120T|PTPN6_uc010sfs.1_Missense_Mutation_p.A108T	NM_002831	NP_002822	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type	120	SH2 2.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)	1						TGGCGGGCAGGCAGAGACGCT	0.612													A	7063999	G	A	7063999	3	1	152	1	0	0	0	0	1	0	0	0	12792	1203	42	2	390	2	PTPN6	12	7063999	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	128015	7063999	126787896	659	82476											
CD163	9332	broad.mit.edu	37	chr12	7637821	7637821	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacccacatgggaatggacaTggccttgtctaaagatgcag	11	10	1	1	rs150182030	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:7637821T>C	uc001qsz.3	-	11	2778	c.2650A>G	c.(2650-2652)ATG>GTG	p.M884V	CD163_uc001qta.3_Missense_Mutation_p.M884V|CD163_uc009zfw.2_Missense_Mutation_p.M917V	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	884	SRCR 8.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						GGAATGGACATGGCCTTGTCT	0.542													C	7637821	T	C	7637821	3	2	152	1	0	0	0	0	1	0	0	0	2967	1464	51	3	844	3	CD163	12	7637821	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	573822	7637821	126214074	660	82477											
CLEC12B	387837	broad.mit.edu	37	chr12	10167893	10167893	+	Frame_Shift_Del	DEL	A	A	-													taagatgtggcaatggtaccAaaatagttgctactatttta							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:10167892_10167892CA>C	uc001qwz.2	+	3	579	c.451_451CA>C	c.(451-453)caafs	p.Q151fs	CLEC12B_uc001qwx.2_Frame_Shift_Del_p.Q151fs|CLEC12B_uc001qwy.2_Frame_Shift_Del_p.Q48fs|CLEC12B_uc009zhe.2_Non-coding_Transcript	NM_001129998	NP_001123470	Q2HXU8	CL12B_HUMAN	Homo sapiens C-type lectin domain family 12, member B (CLEC12B), transcript variant 1, mRNA.	151	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						GCAATGGTACCAAAATAGTTG	0.393													-	10167893	A	-	10167893	7	5	152	1	0	1	0	1	0	0	0	0	3498	130	5	0	466	0	CLEC12B	12	10167893	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	2530072	10167893	123684002	661	82478											
OLR1	4973	broad.mit.edu	37	chr12	10324632	10324632	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccatttgacttctcatcAggctggtccttcacagtctg	7	12	4	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:10324632A>G	uc001qxo.1	-	1	159	c.45T>C	c.(43-45)CCT>CCC	p.P15P	OLR1_uc010sha.1_Silent_p.P15P|OLR1_uc001qxp.2_RNA	NM_002543	NP_002534	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like)	15	Cytoplasmic (Potential).				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			ovary(1)	1						ACTTCTCATCAGGCTGGTCCT	0.403													G	10324632	A	G	10324632	2	3	152	1	0	0	0	0	0	0	0	1	10863	175	7	3		3	OLR1	12	10324632	Silent	SNP	A	TCGA-CD-8536-01A-11D-2340-08	156739	10324632	123527263	662	82479											
PLCZ1	89869	broad.mit.edu	37	chr12	18872468	18872468	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atttaatggatgagtcatatCttgataaacttttctacatt	5	5	3	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:18872468C>A	uc010sid.1	-	5	657	c.466G>T	c.(466-468)GAT>TAT	p.D156Y	PLCZ1_uc001rdv.3_Missense_Mutation_p.D52Y|PLCZ1_uc001rdw.3_Intron|PLCZ1_uc009zil.1_RNA	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	156	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TGAGTCATATCTTGATAAACT	0.313													A	18872468	C	A	18872468	3	1	152	1	0	0	0	0	1	0	0	0	12044	913	32	5	1404	5	PLCZ1	12	18872468	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	8547836	18872468	114979427	663	82480											
ABCC9	10060	broad.mit.edu	37	chr12	21997454	21997454	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcagctgaaaagcgattgAgaatcagtcccaggggtgtg	13	7	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:21997454A>G	uc001rfi.1	-	26	3298	c.3278T>C	c.(3277-3279)CTC>CCC	p.L1093P	ABCC9_uc001rfh.2_Missense_Mutation_p.L1093P|ABCC9_uc001rfj.1_Missense_Mutation_p.L1057P	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1093	ABC transmembrane type-1 2.|Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAAGCGATTGAGAATCAGTCC	0.363													G	21997454	A	G	21997454	3	3	152	1	0	0	0	0	1	0	0	0	59	304	11	3	1565	3	ABCC9	12	21997454	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	3124986	21997454	111854441	664	82481											
ABCC9	10060	broad.mit.edu	37	chr12	22035766	22035766	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgctcatagctgtccagGtgatatcttccaggctgttt	10	9	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:22035766G>A	uc001rfi.1	-	14	1973	c.1953C>T	c.(1951-1953)CAC>CAT	p.H651H	ABCC9_uc001rfh.2_Silent_p.H651H|ABCC9_uc001rfj.1_Intron	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	651	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGCTGTCCAGGTGATATCTTC	0.383													A	22035766	G	A	22035766	2	1	152	1	0	0	0	0	0	0	0	1	59	1252	44	4		4	ABCC9	12	22035766	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	38312	22035766	111816129	665	82482											
ABCC9	10060	broad.mit.edu	37	chr12	22063767	22063767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctttacataccagcagaGctccacggaggttaatgcca	9	11	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:22063767G>A	uc001rfi.1	-	7	1177	c.1157C>T	c.(1156-1158)GCT>GTT	p.A386V	ABCC9_uc001rfh.2_Missense_Mutation_p.A386V|ABCC9_uc001rfj.1_Missense_Mutation_p.A386V	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	386	Cytoplasmic (Potential).|ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TACCAGCAGAGCTCCACGGAG	0.393													A	22063767	G	A	22063767	3	1	152	1	0	0	0	0	1	0	0	0	59	971	34	2	3762	2	ABCC9	12	22063767	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	28001	22063767	111788128	666	82483											
BCAT1	586	broad.mit.edu	37	chr12	24989456	24989456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacccacccactgatgtgCcaggtccagaatgcaccgcc	10	17	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:24989456C>T	uc001rgd.3	-	8	1334	c.892G>A	c.(892-894)GCA>ACA	p.A298T	BCAT1_uc001rgc.2_Missense_Mutation_p.A297T|BCAT1_uc010six.1_Missense_Mutation_p.A310T|BCAT1_uc010siy.1_Missense_Mutation_p.A261T|BCAT1_uc001rge.3_Missense_Mutation_p.A237T	NM_005504	NP_005495	P54687	BCAT1_HUMAN	branched chain aminotransferase 1, cytosolic	298					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			lung(1)|breast(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	CACTGATGTGCCAGGTCCAGA	0.418													T	24989456	C	T	24989456	3	4	152	1	0	0	0	0	1	0	0	0	1354	739	26	2	284	2	BCAT1	12	24989456	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	2925689	24989456	108862439	667	82484											
ITPR2	3709	broad.mit.edu	37	chr12	26731711	26731711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctgggtttggccaggtgCaattgtaaattctgaaggca	14	7	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:26731711C>T	uc001rhg.2	-	34	4982	c.4565G>A	c.(4564-4566)TGC>TAC	p.C1522Y		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1522	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					TGGCCAGGTGCAATTGTAAAT	0.398													T	26731711	C	T	26731711	3	4	152	1	0	0	0	0	1	0	0	0	7921	710	25	2	3636	2	ITPR2	12	26731711	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1742255	26731711	107120184	668	82485											
ITPR2	3709	broad.mit.edu	37	chr12	26749901	26749901	+	Frame_Shift_Del	DEL	T	T	-													acttgatttcagtgtagacaTttttcccctctgtgcatgct							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:26749900_26749900AT>A	uc001rhg.3	-	30	4587	c.4170_4170AT>T	c.(4168-4170)aatfs	p.N1390fs		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1390					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CAGTGTAGACATTTTTCCCCT	0.527													-	26749901	T	-	26749901	7	5	152	1	0	1	0	1	0	0	0	0	7921	1493	52	0	4044	0	ITPR2	12	26749901	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	18190	26749901	107101994	669	82486											
ARID2	196528	broad.mit.edu	37	chr12	46246049	46246049	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacattccaaatcataaaacTtccaatcatgtaggaaatgg	5	8	2	0	rs146664069	by1000genomes	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:46246049T>G	uc001ros.1	+	15	4143	c.4143T>G	c.(4141-4143)ACT>ACG	p.T1381T	ARID2_uc001ror.2_Silent_p.T1381T|ARID2_uc009zkg.1_Silent_p.T837T|ARID2_uc009zkh.1_Silent_p.T1008T|ARID2_uc001rou.1_Silent_p.T715T	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1381					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ATCATAAAACTTCCAATCATG	0.348													G	46246049	T	G	46246049	2	3	152	1	0	0	0	0	0	0	0	1	915	1596	56	5		5	ARID2	12	46246049	Silent	SNP	T	TCGA-CD-8536-01A-11D-2340-08	19496148	46246049	87605846	670	82487											
PRKAG1	5571	broad.mit.edu	37	chr12	49399287	49399287	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccataaaggggcagctcGtacaccgttagtcaccaaag	9	12	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:49399287G>A	uc001rsy.2	-	4	277	c.208C>T	c.(208-210)CGA>TGA	p.R70*	uc001rsw.2_Intron|PRKAG1_uc010smd.1_Nonsense_Mutation_p.R38*|PRKAG1_uc001rsx.2_Translation_Start_Site|PRKAG1_uc001rsz.2_Nonsense_Mutation_p.R70*|PRKAG1_uc009zlb.2_Translation_Start_Site|PRKAG1_uc010sme.1_Nonsense_Mutation_p.R70*	NM_002733	NP_002724	P54619	AAKG1_HUMAN	AMP-activated protein kinase, noncatalytic	70	CBS 1.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			kidney(1)	1						GGGGCAGCTCGTACACCGTTA	0.423													A	49399287	G	A	49399287	4	1	152	1	0	0	0	0	0	1	0	0	12500	1153	40	1	823	1	PRKAG1	12	49399287	Nonsense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	3153238	49399287	84452608	671	82488											
DNAJC22	79962	broad.mit.edu	37	chr12	49743389	49743389	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccttaccggatctggaggcTactgatgggggagactggct	16	9	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:49743389T>C	uc001rua.2	+	2	1135	c.734T>C	c.(733-735)CTA>CCA	p.L245P	DNAJC22_uc001rub.2_Missense_Mutation_p.L245P	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	245					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)	1						ATCTGGAGGCTACTGATGGGG	0.527													C	49743389	T	C	49743389	3	2	152	1	0	0	0	0	1	0	0	0	4641	1522	53	3	736	3	DNAJC22	12	49743389	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	344102	49743389	84108506	672	82489											
ACCN2	41	broad.mit.edu	37	chr12	50452586	50452586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggaggaggtgggtggcGtccagccggtgagcatccag	20	8	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:50452586G>A	uc001rvw.2	+	2	266	c.37G>A	c.(37-39)GTC>ATC	p.V13I	ACCN2_uc001rvv.2_Missense_Mutation_p.V13I|ACCN2_uc009zln.2_5'UTR|ACCN2_uc009zlo.2_Missense_Mutation_p.V13I	NM_001095	NP_001086	P78348	ACCN2_HUMAN	amiloride-sensitive cation channel 2, neuronal	13	Cytoplasmic (By similarity).				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(1)	1					Amiloride(DB00594)	GGTGGGTGGCGTCCAGCCGGT	0.617													A	50452586	G	A	50452586	3	1	152	1	0	0	0	0	1	0	0	0	129	1145	40	1	39	1	ACCN2	12	50452586	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	709197	50452586	83399309	673	82490											
GPD1	2819	broad.mit.edu	37	chr12	50503231	50503231	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgttcatggctgtgtacAaggtgtgctacgagggccag	14	9	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:50503231A>G	uc001rvz.2	+	8	1012	c.979A>G	c.(979-981)AAG>GAG	p.K327E	GPD1_uc001rwa.2_Missense_Mutation_p.K304E|C12orf62_uc001rwb.1_5'Flank	NM_005276	NP_005267	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	327					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity				0					NADH(DB00157)	GGCTGTGTACAAGGTGTGCTA	0.582													G	50503231	A	G	50503231	3	3	152	1	0	0	0	0	1	0	0	0	6604	131	5	3	1009	3	GPD1	12	50503231	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	50645	50503231	83348664	674	82491											
ANKRD33	341405	broad.mit.edu	37	chr12	52285024	52285024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctggcccttcctctctggCgataccaggagctcaggata	11	13	3	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:52285024C>T	uc001rzf.3	+	6	1298	c.719C>T	c.(718-720)GCG>GTG	p.A240V	ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzd.2_Nonsense_Mutation_p.R432*|ANKRD33_uc001rze.2_Nonsense_Mutation_p.R328*|ANKRD33_uc001rzg.3_Missense_Mutation_p.A167V|ANKRD33_uc001rzi.3_Missense_Mutation_p.A240V	NM_001130015	NP_001123487	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33 isoform 1	240											0				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TCCTCTCTGGCGATACCAGGA	0.567													T	52285024	C	T	52285024	3	4	152	1	0	0	0	0	1	0	0	0	661	769	27	1	1342	1	ANKRD33	12	52285024	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1781793	52285024	81566871	675	82492											
ACVRL1	94	broad.mit.edu	37	chr12	52309066	52309066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgcagctgtggctcatcaCgcactaccacgagcacggct	10	16	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:52309066C>T	uc001rzj.2	+	7	1113	c.830C>T	c.(829-831)ACG>ATG	p.T277M	ACVRL1_uc001rzk.2_Missense_Mutation_p.T277M|ACVRL1_uc010snm.1_Missense_Mutation_p.T103M	NM_000020	NP_000011	P37023	ACVL1_HUMAN	activin A receptor type II-like 1 precursor	277	Cytoplasmic (Potential).|Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TGGCTCATCACGCACTACCAC	0.577									Hereditary_Hemorrhagic_Telangiectasia				T	52309066	C	T	52309066	3	4	152	1	0	0	0	0	1	0	0	0	225	536	19	1	852	1	ACVRL1	12	52309066	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	24042	52309066	81542829	676	82493											
SP1	6667	broad.mit.edu	37	chr12	53777399	53777399	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgttggctatagcaaaTgccccaggtaagatttccaa	9	11	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:53777399T>C	uc001scw.2	+	3	1765	c.1668T>C	c.(1666-1668)AAT>AAC	p.N556N	SP1_uc010sog.1_Silent_p.N549N	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	556	Transactivation domain C (highly charged).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CTATAGCAAATGCCCCAGGTA	0.468													C	53777399	T	C	53777399	2	2	152	1	0	0	0	0	0	0	0	1	14959	1461	51	3		3	SP1	12	53777399	Silent	SNP	T	TCGA-CD-8536-01A-11D-2340-08	1468333	53777399	80074496	677	82494											
NFE2	4778	broad.mit.edu	37	chr12	54687063	54687063	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggaagtgggaagccagaatCtgggtggattgagcaggggc	19	5	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:54687063C>A	uc009znk.2	-	2	727	c.217G>T	c.(217-219)GAT>TAT	p.D73Y	NFE2_uc001sfq.2_Missense_Mutation_p.D73Y|NFE2_uc001sfr.3_Missense_Mutation_p.D73Y|NFE2_uc009znl.2_Missense_Mutation_p.D73Y	NM_006163	NP_006154	Q16621	NFE2_HUMAN	nuclear factor, erythroid derived 2 isoform 1	73	Transactivation domain.|Required for interaction with MAPK8 (By similarity).				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding				0						AAGCCAGAATCTGGGTGGATT	0.552													A	54687063	C	A	54687063	3	1	152	1	0	0	0	0	1	0	0	0	10366	913	32	5	908	5	NFE2	12	54687063	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	909664	54687063	79164832	678	82495											
KIAA0748	9840	broad.mit.edu	37	chr12	55356993	55356993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagaagaaggcatcagcaGtgacagccagtgtttgcacc	12	10	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:55356993G>A	uc001sgn.3	-	9	799	c.689C>T	c.(688-690)ACT>ATT	p.T230I	KIAA0748_uc001sgl.3_Missense_Mutation_p.T92I|KIAA0748_uc001sgm.3_5'UTR|KIAA0748_uc010spb.1_5'UTR|KIAA0748_uc010spc.1_Missense_Mutation_p.T92I|KIAA0748_uc010spd.1_Missense_Mutation_p.T230I|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	230										ovary(1)|central_nervous_system(1)	2						GGCATCAGCAGTGACAGCCAG	0.453													A	55356993	G	A	55356993	3	1	152	1	0	0	0	0	1	0	0	0	8190	1029	36	4	884	4	KIAA0748	12	55356993	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	669930	55356993	78494902	679	82496											
OR6C65	403282	broad.mit.edu	37	chr12	55794610	55794611	+	Frame_Shift_Ins	INS	-	-	T													tgcttccatggcccaagtatINStttttttaattcttttggga							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:55794609_55794610A>AT	uc010spl.2	+	0	297_298	c.297_298A>AT	c.(295-300)gtatttfs	p.V99fs		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L102fs*1(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TGGCCCAAGTATTTTTTTTAAT	0.356													T	55794611	-	T	55794610	7	5	152	1	0	1	1	0	0	0	0	0	11195	1493	52	0	300	0	OR6C65	12	55794610	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	437617	55794610	78057285	680	82497											
SILV	6490	broad.mit.edu	37	chr12	56348131	56348131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcttgcttcataagtctgCgcctgatattgggagaaggg	13	7	3	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:56348131C>T	uc001sip.2	-	11	1884	c.1853G>A	c.(1852-1854)CGC>CAC	p.R618H	SILV_uc001siq.2_Missense_Mutation_p.R625H|SILV_uc010spx.1_Missense_Mutation_p.R532H|SILV_uc001sir.2_Missense_Mutation_p.R618H	NM_006928	NP_008859	P40967	PMEL_HUMAN	silver homolog	618	Cytoplasmic (Potential).				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding				0						CATAAGTCTGCGCCTGATATT	0.512													T	56348131	C	T	56348131	3	4	152	1	0	0	0	0	1	0	0	0	14322	768	27	1	136	1	SILV	12	56348131	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	553521	56348131	77503764	681	82498											
ZC3H10	84872	broad.mit.edu	37	chr12	56514705	56514705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggctgaggcagaaagtagCagctggccttggcctttcac	13	11	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:56514705C>T	uc001sjp.1	+	3	548	c.359C>T	c.(358-360)GCA>GTA	p.A120V		NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	120							nucleic acid binding|zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CAGAAAGTAGCAGCTGGCCTT	0.557													T	56514705	C	T	56514705	3	4	152	1	0	0	0	0	1	0	0	0	17556	710	25	2	361	2	ZC3H10	12	56514705	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	166574	56514705	77337190	682	82499											
PAN2	9924	broad.mit.edu	37	chr12	56712173	56712173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtacagctgaagggctgtgCgggcatcctcaatactgtca	13	10	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:56712173C>T	uc001skx.2	-	25	3795	c.3422G>A	c.(3421-3423)CGC>CAC	p.R1141H	CNPY2_uc001sku.1_5'Flank|CNPY2_uc001skv.2_5'Flank|PAN2_uc001skw.2_Missense_Mutation_p.R289H|PAN2_uc001skz.2_Missense_Mutation_p.R1140H|PAN2_uc001sky.2_Missense_Mutation_p.R1137H	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	1141	Exonuclease.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						AAGGGCTGTGCGGGCATCCTC	0.498													T	56712173	C	T	56712173	3	4	152	1	0	0	0	0	1	0	0	0	11414	768	27	1	194	1	PAN2	12	56712173	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	197468	56712173	77139722	683	82500											
STAT6	6778	broad.mit.edu	37	chr12	57499094	57499094	+	Frame_Shift_Del	DEL	G	G	-													ggtctgagtcttcagtacctGggggggctgcttctccacca							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:57499093_57499093TG>T	uc009zpg.3	-	8	991	c.989_989CA>A	c.(988-990)cagfs	p.Q330fs	STAT6_uc009zpe.3_Frame_Shift_Del_p.Q281fs|STAT6_uc001sna.3_Frame_Shift_Del_p.Q281fs|STAT6_uc009zpf.3_Frame_Shift_Del_p.Q281fs|STAT6_uc010srb.2_Frame_Shift_Del_p.Q171fs|STAT6_uc010src.2_Frame_Shift_Del_p.Q171fs|STAT6_uc010srd.2_Frame_Shift_Del_p.Q171fs	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	281					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTTCAGTACCTGGGGGGGCTG	0.637													-	57499094	G	-	57499094	7	5	152	1	0	1	0	1	0	0	0	0	15269	1357	47	0	1758	0	STAT6	12	57499094	Frame_Shift_Del	DEL	G	TCGA-CD-8536-01A-11D-2340-08	786921	57499094	76352801	684	82501											
GLI1	2735	broad.mit.edu	37	chr12	57864501	57864501	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtccagaggttcaagagcCtgggctgtgtccatacccca	12	12	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:57864501C>A	uc001snx.2	+	12	2056	c.1978C>A	c.(1978-1980)CTG>ATG	p.L660M	GLI1_uc009zpq.2_Missense_Mutation_p.L532M	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	660					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			GTTCAAGAGCCTGGGCTGTGT	0.612													A	57864501	C	A	57864501	3	1	152	1	0	0	0	0	1	0	0	0	6437	680	24	5	2020	5	GLI1	12	57864501	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	365407	57864501	75987394	685	82502											
LEMD3	23592	broad.mit.edu	37	chr12	65564258	65564259	+	Frame_Shift_Ins	INS	-	-	C													gaacccatagtaagcctctcINScccccgctgactgctaaatc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:65564257_65564258T>TC	uc001ssl.2	+	0	907_908	c.881_882T>TC	c.(880-882)ctcfs	p.L294fs	LEMD3_uc009zqo.2_Frame_Shift_Ins_p.L294fs	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	294					negative regulation of BMP signaling pathway|negative regulation of activin receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	p.L297fs*4(1)		breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		AGTAAGCCTCTCCCCCCGCTGA	0.629													C	65564259	-	C	65564258	7	5	152	1	0	1	1	0	0	0	0	0	8721	842	30	0	884	0	LEMD3	12	65564258	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	7699757	65564258	68287637	686	82503											
GRIP1	23426	broad.mit.edu	37	chr12	66773137	66773137	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcttcgaggcttagtgacTggggacaagctgcctctctg	14	10	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:66773137T>C	uc001stk.2	-	19	2629	c.2388A>G	c.(2386-2388)CCA>CCG	p.P796P	GRIP1_uc010sta.1_Silent_p.P740P|GRIP1_uc001stj.2_Silent_p.P578P|GRIP1_uc001stl.1_Silent_p.P688P|GRIP1_uc001stm.2_Silent_p.P796P	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	848					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GCTTAGTGACTGGGGACAAGC	0.488													C	66773137	T	C	66773137	2	2	152	1	0	0	0	0	0	0	0	1	6787	1567	55	3		3	GRIP1	12	66773137	Silent	SNP	T	TCGA-CD-8536-01A-11D-2340-08	1208879	66773137	67078758	687	82504											
GLIPR1L2	144321	broad.mit.edu	37	chr12	75807475	75807475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattttcatatgcaactatgCgccagggtaagttacttaaa	7	7	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:75807475C>T	uc001sxr.1	+	3	586	c.578C>T	c.(577-579)GCG>GTG	p.A193V	GLIPR1L2_uc001sxp.1_Missense_Mutation_p.A193V|GLIPR1L2_uc001sxq.1_Missense_Mutation_p.A86V	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	193						integral to membrane				ovary(1)	1						TGCAACTATGCGCCAGGGTAA	0.289													T	75807475	C	T	75807475	3	4	152	1	0	0	0	0	1	0	0	0	6443	768	27	1	588	1	GLIPR1L2	12	75807475	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	9034338	75807475	58044420	688	82505											
NAV3	89795	broad.mit.edu	37	chr12	78360045	78360045	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgccttagttttctagcaGccagaggggtaaatgttcaa	10	8	3	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:78360045G>T	uc001syp.2	+	4	624	c.451G>T	c.(451-453)GCC>TCC	p.A151S	NAV3_uc001syo.2_Missense_Mutation_p.A151S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	151	CH.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TTTTCTAGCAGCCAGAGGGGT	0.323										HNSCC(70;0.22)			T	78360045	G	T	78360045	3	4	152	1	0	0	0	0	1	0	0	0	10185	971	34	5	465	5	NAV3	12	78360045	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2552570	78360045	55491850	689	82506											
PLXNC1	10154	broad.mit.edu	37	chr12	94673302	94673302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgagagtgcagatgtctgtCggaatatttcagtcaatgtt	11	6	3	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:94673302C>T	uc001tdc.2	+	22	3901	c.3652C>T	c.(3652-3654)CGG>TGG	p.R1218W	PLXNC1_uc010sut.1_Missense_Mutation_p.R265W|PLXNC1_uc009zsv.2_5'UTR	NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	1218	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						AGATGTCTGTCGGAATATTTC	0.398													T	94673302	C	T	94673302	3	4	152	1	0	0	0	0	1	0	0	0	12126	875	31	1	3738	1	PLXNC1	12	94673302	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	16313257	94673302	39178593	690	82507											
NR2C1	7181	broad.mit.edu	37	chr12	95419000	95419001	+	Frame_Shift_Del	DEL	TA	TA	-													gccttttcctgaaatttctcTatctgttccatgttttctag							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:95418999_95419000CTA>C	uc001tdm.4	-	12	1819_1820	c.1563_1564TAG>G	c.(1561-1566)atagagfs	p.I521fs		NM_003297	NP_003288	P13056	NR2C1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.	521					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TGAAATTTCTCTATCTGTTCCA	0.322													-	95419001	TA	-	95419000	7	5	152	1	0	1	0	1	0	0	0	0	10622	1512	53	0	256	0	NR2C1	12	95419000	Frame_Shift_Del	DEL	TA	TCGA-CD-8536-01A-11D-2340-08	745698	95419000	38432895	691	82508											
HAL	3034	broad.mit.edu	37	chr12	96374631	96374631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactgtctctcccctattgGcaaagaccatctttcaaaag	5	12	3	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:96374631G>A	uc001tem.1	-	16	1595	c.1298C>T	c.(1297-1299)GCC>GTC	p.A433V	HAL_uc009zti.1_RNA|HAL_uc010suw.1_Missense_Mutation_p.A225V|HAL_uc010sux.1_Missense_Mutation_p.A433V	NM_002108	NP_002099	P42357	HUTH_HUMAN	histidine ammonia-lyase	433					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			ovary(2)|skin(1)	3					L-Histidine(DB00117)	TCCCCTATTGGCAAAGACCAT	0.438													A	96374631	G	A	96374631	3	1	152	1	0	0	0	0	1	0	0	0	6947	1203	42	2	699	2	HAL	12	96374631	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	955631	96374631	37477264	692	82509											
GNPTAB	79158	broad.mit.edu	37	chr12	102155452	102155452	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaattttatttacatatctGagggaatctgcaaatgtatc	7	5	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:102155452G>A	uc001tit.2	-	14	2984	c.2805C>T	c.(2803-2805)CTC>CTT	p.L935L		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	935					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2						TTACATATCTGAGGGAATCTG	0.388													A	102155452	G	A	102155452	2	1	152	1	0	0	0	0	0	0	0	1	6545	1277	45	4		4	GNPTAB	12	102155452	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	5780821	102155452	31696443	693	82510											
NUAK1	9891	broad.mit.edu	37	chr12	106532344	106532344	+	Frame_Shift_Del	DEL	C	C	-													gggctccagggctgcagtcgCccccgccaccgcctctcggg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:106532343_106532343GC>G	uc001tlj.1	-	0	1469	c.89_89GC>C	c.(88-90)gcgfs	p.A30fs		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	30							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GGCTGCAGTCGCCCCCGCCAC	0.721													-	106532344	C	-	106532344	7	5	152	1	0	1	0	1	0	0	0	0	10712	739	26	0	1925	0	NUAK1	12	106532344	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	4376892	106532344	27319551	694	82511											
CMKLR1	1240	broad.mit.edu	37	chr12	108686207	108686207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcaggttggctgtgtccCggaagacgagagatggggaa	17	7	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:108686207C>T	uc009zuw.2	-	3	724	c.533G>A	c.(532-534)CGG>CAG	p.R178Q	CMKLR1_uc001tmw.2_Missense_Mutation_p.R178Q|CMKLR1_uc001tmv.2_Missense_Mutation_p.R176Q|CMKLR1_uc009zuv.2_Missense_Mutation_p.R178Q	NM_001142345	NP_001135817	Q99788	CML1_HUMAN	chemokine-like receptor 1 isoform a	178	Extracellular (Potential).				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			lung(3)|ovary(1)|pancreas(1)	5						GGCTGTGTCCCGGAAGACGAG	0.567													T	108686207	C	T	108686207	3	4	152	1	0	0	0	0	1	0	0	0	3579	652	23	1	592	1	CMKLR1	12	108686207	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	2153863	108686207	25165688	695	82512											
PPTC7	160760	broad.mit.edu	37	chr12	110977670	110977670	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatcatataatcaggcatgTtgtcaaagagtccatctgtt	8	7	4	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:110977670T>C	uc001trh.1	-	4	911	c.683A>G	c.(682-684)AAC>AGC	p.N228S		NM_139283	NP_644812	Q8NI37	PPTC7_HUMAN	T-cell activation protein phosphatase 2C	228	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity				0						ATCAGGCATGTTGTCAAAGAG	0.458													C	110977670	T	C	110977670	3	2	152	1	0	0	0	0	1	0	0	0	12413	1725	60	3	243	3	PPTC7	12	110977670	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	2291463	110977670	22874225	696	82513											
DTX1	1840	broad.mit.edu	37	chr12	113496119	113496119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccgctggcggccctacaCggccaccgtgtgccaccaca	11	19	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:113496119C>T	uc001tuk.1	+	1	458	c.122C>T	c.(121-123)ACG>ATG	p.T41M		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	41	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						CGGCCCTACACGGCCACCGTG	0.652													T	113496119	C	T	113496119	3	4	152	1	0	0	0	0	1	0	0	0	4793	536	19	1	124	1	DTX1	12	113496119	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	2518449	113496119	20355776	697	82514											
C12orf52	84934	broad.mit.edu	37	chr12	113629275	113629275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggggtagccactcgcccCgccccagggaggcaccactg	13	18	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:113629275C>T	uc001tur.1	+	4	931	c.463C>T	c.(463-465)CGC>TGC	p.R155C	C12orf52_uc009zwg.1_Missense_Mutation_p.R152C|C12orf52_uc001tus.1_Missense_Mutation_p.R155C|C12orf52_uc001tut.1_Missense_Mutation_p.R179C	NM_032848	NP_116237	Q96K30	RITA_HUMAN	hypothetical protein LOC84934	155	Interaction with RBPJ/RBPSUH.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding				0						CCACTCGCCCCGCCCCAGGGA	0.677													T	113629275	C	T	113629275	3	4	152	1	0	0	0	0	1	0	0	0	1697	652	23	1	469	1	C12orf52	12	113629275	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	133156	113629275	20222620	698	82515											
KSR2	283455	broad.mit.edu	37	chr12	117962752	117962752	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaggccatcacctcccgCttgaaggccttgagctggtc	11	14	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:117962752C>A	uc001two.2	-	14	2092	c.2037G>T	c.(2035-2037)AAG>AAT	p.K679N		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	708	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCACCTCCCGCTTGAAGGCCT	0.612													A	117962752	C	A	117962752	3	1	152	1	0	0	0	0	1	0	0	0	8582	796	28	5	756	5	KSR2	12	117962752	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	4333477	117962752	15889143	699	82516											
GCN1L1	10985	broad.mit.edu	37	chr12	120583065	120583065	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccagcctacctcagactcaCctcaggcacagggtccaaaa	7	17	3	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:120583065C>G	uc001txo.2	-	39	5029	c.5016_splice	c.e39+1	p.E1672_splice		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis						regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCAGACTCACCTCAGGCACA	0.582													G	120583065	C	G	120583065	5	3	152	1	0	0	0	0	0	0	1	0	6299	521	18	5	3078	5	GCN1L1	12	120583065	Splice_Site	SNP	C	TCGA-CD-8536-01A-11D-2340-08	2620313	120583065	13268830	700	82517											
WDR66	144406	broad.mit.edu	37	chr12	122359526	122359526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccccaagaagtcacagcGtccatgatccgtttggagac	11	12	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:122359526G>A	uc009zxk.2	+	2	457	c.315G>A	c.(313-315)GCG>GCA	p.A105A		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	105							calcium ion binding			ovary(1)|skin(1)	2	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AAGTCACAGCGTCCATGATCC	0.418													A	122359526	G	A	122359526	2	1	152	1	0	0	0	0	0	0	0	1	17314	1132	40	1		1	WDR66	12	122359526	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1776461	122359526	11492369	701	82518											
DNAH10	196385	broad.mit.edu	37	chr12	124333389	124333389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctcctcccagatccagaCgatccgaaatgctctgatcc	7	15	2	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:124333389C>T	uc001uft.3	+	33	5733	c.5708C>T	c.(5707-5709)ACG>ATG	p.T1903M		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1903	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGATCCAGACGATCCGAAAT	0.522													T	124333389	C	T	124333389	3	4	152	1	0	0	0	0	1	0	0	0	4598	536	19	1	5838	1	DNAH10	12	124333389	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1973863	124333389	9518506	702	82519											
RIMBP2	23504	broad.mit.edu	37	chr12	130921759	130921759	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagggtccgcacggtcacGcccttggcctccaggctccg	14	16	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:130921759G>A	uc001uil.2	-	10	1847	c.1683C>T	c.(1681-1683)GGC>GGT	p.G561G	RIMBP2_uc001uim.2_Silent_p.G469G|RIMBP2_uc001uin.1_Silent_p.G220G	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	561	Fibronectin type-III 3.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCACGGTCACGCCCTTGGCCT	0.687													A	130921759	G	A	130921759	2	1	152	1	0	0	0	0	0	0	0	1	13363	1074	38	1		1	RIMBP2	12	130921759	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	6588370	130921759	2930136	703	82520											
ULK1	8408	broad.mit.edu	37	chr12	132393282	132393282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaaaggcatcatccaccGcgacctgaaaccgcagaaca	8	15	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:132393282G>A	uc001uje.2	+	6	678	c.410G>A	c.(409-411)CGC>CAC	p.R137H		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	137	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		ATCATCCACCGCGACCTGAAA	0.602													A	132393282	G	A	132393282	3	1	152	1	0	0	0	0	1	0	0	0	16972	1087	38	1	432	1	ULK1	12	132393282	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1471523	132393282	1458613	704	82521											
EP400	57634	broad.mit.edu	37	chr12	132505665	132505665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcaggcttccgccagtGctccacgacaccagcccgcc	8	21	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:132505665G>A	uc001ujn.2	+	22	4524	c.4489G>A	c.(4489-4491)GCT>ACT	p.A1497T	EP400_uc001ujl.2_Missense_Mutation_p.A1496T|EP400_uc001ujm.2_Intron	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1533					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTCCGCCAGTGCTCCACGACA	0.478													A	132505665	G	A	132505665	3	1	152	1	0	0	0	0	1	0	0	0	5149	1319	46	2	4572	2	EP400	12	132505665	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	112383	132505665	1346230	705	82522											
SACS	26278	broad.mit.edu	37	chr13	23911829	23911830	+	Frame_Shift_Ins	INS	-	-	A													caatttcttgaatatttggaINSaaaaacacttcagaaaaaaa							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:23911828_23911829G>GA	uc001uon.2	-	9	6775_6776	c.6186_6187C>TC	c.(6184-6189)tttccafs	p.F2062fs	SACS_uc001uoo.2_Frame_Shift_Ins_p.F1915fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2062					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGAATATTTGGAAAAAACACTT	0.337													A	23911830	-	A	23911829	7	5	152	1	0	1	1	0	0	0	0	0	13804	243	9	0	7557	0	SACS	13	23911829	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08		23911829	91258049	706	82523											
CDK8	1024	broad.mit.edu	37	chr13	26956961	26956961	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtttccacagaaacctgctaAtattttagttatgggtgaag	9	6	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:26956961A>T	uc001uqr.1	+	5	493	c.467A>T	c.(466-468)AAT>ATT	p.N156I	CDK8_uc001uqs.1_Missense_Mutation_p.N156I|CDK8_uc001uqt.1_Intron	NM_001260	NP_001251	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	156	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|large_intestine(1)|ovary(1)|skin(1)	5	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AAACCTGCTAATATTTTAGTT	0.323													T	26956961	A	T	26956961	3	4	152	1	0	0	0	0	1	0	0	0	3150	101	4	5	485	5	CDK8	13	26956961	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	3045132	26956961	88212917	707	82524											
PAN3	255967	broad.mit.edu	37	chr13	28854577	28854577	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactgaccaaaacaggatgCgaagtgtaaatgacatcatg	10	7	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:28854577C>T	uc001urz.2	+	15	1788	c.1780C>T	c.(1780-1782)CGA>TGA	p.R594*	PAN3_uc001ury.2_Nonsense_Mutation_p.R428*|PAN3_uc001urx.2_Nonsense_Mutation_p.R540*	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	740	Protein kinase.|Interaction with PAN2.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AAACAGGATGCGAAGTGTAAA	0.373													T	28854577	C	T	28854577	4	4	152	1	0	0	0	0	0	1	0	0	11415	760	27	1	2280	1	PAN3	13	28854577	Nonsense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1897616	28854577	86315301	708	82525											
MAB21L1	4081	broad.mit.edu	37	chr13	36049748	36049748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcggccagatcccggtGcatttaaaggccggcgtgat	12	13	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:36049748G>A	uc001uvc.2	-	1	1085	c.528C>T	c.(526-528)TGC>TGT	p.C176C	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	176					anatomical structure morphogenesis	nucleus				ovary(2)	2		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		AGATCCCGGTGCATTTAAAGG	0.597													A	36049748	G	A	36049748	2	1	152	1	0	0	0	0	0	0	0	1	9141	1311	46	2		2	MAB21L1	13	36049748	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	7195171	36049748	79120130	709	82526											
SOHLH2	54937	broad.mit.edu	37	chr13	36748981	36748981	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcaagagagtacgcagctGctcacagcaatatttgattc	10	10	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:36748981G>T	uc001uvj.2	-	7	756	c.667C>A	c.(667-669)CAG>AAG	p.Q223K	SOHLH2_uc010tei.1_Missense_Mutation_p.Q300K	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	223	Helix-loop-helix motif.				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GTACGCAGCTGCTCACAGCAA	0.383													T	36748981	G	T	36748981	3	4	152	1	0	0	0	0	1	0	0	0	14924	1328	46	5	630	5	SOHLH2	13	36748981	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	699233	36748981	78420897	710	82527											
COG6	57511	broad.mit.edu	37	chr13	40233534	40233534	+	Frame_Shift_Del	DEL	T	T	-													ctctcaaggcactttcaaccTtttttgttgaaaatagtctg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:40233533_40233533CT>C	uc001uxh.2	+	1	286	c.186_186CT>C	c.(184-186)accfs	p.T62fs	COG6_uc001uxi.2_Frame_Shift_Del_p.T10fs|COG6_uc010acb.2_Frame_Shift_Del_p.T62fs	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	Homo sapiens component of oligomeric golgi complex 6 (COG6), transcript variant 1, mRNA.	62					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		CACTTTCAACCTTTTTTGTTG	0.338													-	40233534	T	-	40233534	7	5	152	1	0	1	0	1	0	0	0	0	3662	1609	56	0	193	0	COG6	13	40233534	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	3484553	40233534	74936344	711	82528											
CPB2	1361	broad.mit.edu	37	chr13	46658416	46658417	+	Frame_Shift_Ins	INS	-	-	A													cgacatcagatgcatttacaINSaaaaaatggacttgtttttt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:46658415_46658416C>CA	uc001vaw.3	-	2	280_281	c.213_214G>TG	c.(211-216)tttgtafs	p.F71fs	AK124928_uc001vau.1_Intron|AK124928_uc001vav.1_Intron|CPB2_uc001vax.3_Frame_Shift_Ins_p.F71fs	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	Homo sapiens carboxypeptidase B2 (plasma) (CPB2), transcript variant 1, mRNA.	71					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GATGCATTTACAAAAAAATGGA	0.361													A	46658417	-	A	46658416	7	5	152	1	0	1	1	0	0	0	0	0	3797	127	5	0	1094	0	CPB2	13	46658416	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	6424882	46658416	68511462	712	82529											
LPAR6	10161	broad.mit.edu	37	chr13	48985758	48985758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtacattgtccttactgCtgccactactgagcaattaa	8	10	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:48985758C>T	uc010acu.2	-	1	1896	c.802G>A	c.(802-804)GCA>ACA	p.A268T	RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Missense_Mutation_p.A268T|LPAR6_uc001vcf.2_Missense_Mutation_p.A268T	NM_001162498	NP_001155970	P43657	LPAR6_HUMAN	G-protein coupled purinergic receptor P2Y5	268	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.?(4)		ovary(4)	4						GTCCTTACTGCTGCCACTACT	0.338													T	48985758	C	T	48985758	3	4	152	1	0	0	0	0	1	0	0	0	8909	797	28	2	236	2	LPAR6	13	48985758	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	2327342	48985758	66184120	713	82530											
THSD1	55901	broad.mit.edu	37	chr13	52972169	52972169	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcaggaggtacttggtAgttacagtctgattggtgtt	14	4	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:52972169A>G	uc001vgo.2	-	3	764	c.219T>C	c.(217-219)ACT>ACC	p.T73T	THSD1_uc001vgp.2_Silent_p.T73T|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	73	Extracellular (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GGTACTTGGTAGTTACAGTCT	0.463													G	52972169	A	G	52972169	2	3	152	1	0	0	0	0	0	0	0	1	15874	407	15	3		3	THSD1	13	52972169	Silent	SNP	A	TCGA-CD-8536-01A-11D-2340-08	3986411	52972169	62197709	714	82531											
MYCBP2	23077	broad.mit.edu	37	chr13	77844149	77844149	+	Frame_Shift_Del	DEL	T	T	-													gagcataccctaaccaagacTttttttcttttctgtttcta							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:77844148_77844148CT>C	uc021rks.1	-	6	1506	c.1239_1239AG>G	c.(1237-1239)aagfs	p.K413fs	MYCBP2_uc010aev.3_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTAACCAAGACTTTTTTTCTT	0.294													-	77844149	T	-	77844149	7	5	152	1	0	1	0	1	0	0	0	0	10018	1609	56	0	13106	0	MYCBP2	13	77844149	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	24871980	77844149	37325729	715	82532											
EDNRB	1910	broad.mit.edu	37	chr13	78477655	78477655	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatactcagagcacatagacTcagcacagtgattcccacag	7	12	2	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:78477655T>A	uc001vko.2	-	2	829	c.571A>T	c.(571-573)AGT>TGT	p.S191C	EDNRB_uc001vkq.1_Missense_Mutation_p.S191C|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.S191C|EDNRB_uc001vkp.1_Missense_Mutation_p.S274C	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	191	Helical; Name=3; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GCACATAGACTCAGCACAGTG	0.408													A	78477655	T	A	78477655	3	1	152	1	0	0	0	0	1	0	0	0	4920	1551	54	5	902	5	EDNRB	13	78477655	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	633506	78477655	36692223	716	82533											
SLITRK1	114798	broad.mit.edu	37	chr13	84453706	84453706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgtctcttggaccgctttCggttcctcaggataaacacg	9	13	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:84453706C>T	uc001vlk.2	-	1	2823	c.1937G>A	c.(1936-1938)CGA>CAA	p.R646Q		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	646	Cytoplasmic (Potential).					integral to membrane		p.R646*(1)		ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGACCGCTTTCGGTTCCTCAG	0.562													T	84453706	C	T	84453706	3	4	152	1	0	0	0	0	1	0	0	0	14742	884	31	1	157	1	SLITRK1	13	84453706	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	5976051	84453706	30716172	717	82534											
SLITRK6	84189	broad.mit.edu	37	chr13	86369500	86369500	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtgaaatattccactagatCagacttcattaaactgtgaa	6	7	2	4			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:86369500C>A	uc001vll.1	-	2	1603	c.1144G>T	c.(1144-1146)GAT>TAT	p.D382Y	SLITRK6_uc010afe.1_Intron	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	382	Extracellular (Potential).|LRR 6.					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCCACTAGATCAGACTTCATT	0.378													A	86369500	C	A	86369500	3	1	152	1	0	0	0	0	1	0	0	0	14747	826	29	5	1385	5	SLITRK6	13	86369500	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1915794	86369500	28800378	718	82535											
DCT	1638	broad.mit.edu	37	chr13	95095788	95095788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaaccatgttgtacatcCgattgtgaccaataggggcc	11	9	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:95095788C>T	uc001vlv.3	-	7	1710	c.1283G>A	c.(1282-1284)CGG>CAG	p.R428Q	DCT_uc010afh.2_Missense_Mutation_p.R461Q	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	428	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GTTGTACATCCGATTGTGACC	0.463													T	95095788	C	T	95095788	3	4	152	1	0	0	0	0	1	0	0	0	4304	652	23	1	284	1	DCT	13	95095788	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	8726288	95095788	20074090	719	82536											
HS6ST3	266722	broad.mit.edu	37	chr13	97485217	97485217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagatcaacgagggtgcccGccaacgcattgaggatctaa	13	10	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:97485217G>A	uc001vmw.2	+	2	1205	c.1181G>A	c.(1180-1182)CGC>CAC	p.R394H		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	394	Lumenal (Potential).					integral to membrane	sulfotransferase activity			ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GAGGGTGCCCGCCAACGCATT	0.502													A	97485217	G	A	97485217	3	1	152	1	0	0	0	0	1	0	0	0	7372	1087	38	1	1187	1	HS6ST3	13	97485217	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2389429	97485217	17684661	720	82537											
CDC16	8881	broad.mit.edu	37	chr13	115010376	115010376	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactttcagagtaatggagaAagatcctttccatgcaagtt	8	7	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:115010376A>G	uc001vuk.1	+	9	977	c.779A>G	c.(778-780)AAA>AGA	p.K260R	CDC16_uc001vul.1_Missense_Mutation_p.K260R|CDC16_uc001vum.1_Missense_Mutation_p.K166R|CDC16_uc001vun.1_Missense_Mutation_p.K259R|CDC16_uc001vuo.1_Missense_Mutation_p.K259R	NM_003903	NP_003894	Q13042	CDC16_HUMAN	anaphase-promoting complex, subunit 6	260					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding				0	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			GTAATGGAGAAAGATCCTTTC	0.393													G	115010376	A	G	115010376	3	3	152	1	0	0	0	0	1	0	0	0	3058	14	1	3	813	3	CDC16	13	115010376	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	17525159	115010376	159502	721	82538											
MMP14	4323	broad.mit.edu	37	chr14	23311785	23311785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatcatgatcttctttgccGagggcttccatggcgacagc	10	12	3	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:23311785G>A	uc001whc.2	+	4	781	c.547G>A	c.(547-549)GAG>AAG	p.E183K		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	183	Extracellular (Potential).					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CTTCTTTGCCGAGGGCTTCCA	0.612													A	23311785	G	A	23311785	3	1	152	1	0	0	0	0	1	0	0	0	9653	1059	37	1	561	1	MMP14	14	23311785	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08		23311785	84037755	722	82539											
MYH7	4625	broad.mit.edu	37	chr14	23897001	23897001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggcttctggaagttggCggatttgcccaggtggttgt	17	7	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:23897001C>T	uc001wjx.2	-	16	1787	c.1681G>A	c.(1681-1683)GCC>ACC	p.A561T		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	561	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGAAGTTGGCGGATTTGCCC	0.547													T	23897001	C	T	23897001	3	4	152	1	0	0	0	0	1	0	0	0	10039	768	27	1	4226	1	MYH7	14	23897001	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	585216	23897001	83452539	723	82540											
NRL	4901	broad.mit.edu	37	chr14	24550668	24550668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggttcttcagcgtgcggCgcctctgcttcagccgcagc	13	16	4	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:24550668C>T	uc001wlo.2	-	3	622	c.491G>A	c.(490-492)CGC>CAC	p.R164H	NRL_uc001wlp.2_Missense_Mutation_p.R164H|NRL_uc001wlq.2_Missense_Mutation_p.R164H	NM_006177	NP_006168	P54845	NRL_HUMAN	neural retina leucine zipper	164	Basic motif.				response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding				0				GBM - Glioblastoma multiforme(265;0.0181)		CAGCGTGCGGCGCCTCTGCTT	0.746													T	24550668	C	T	24550668	3	4	152	1	0	0	0	0	1	0	0	0	10656	768	27	1	226	1	NRL	14	24550668	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	653667	24550668	82798872	724	82541											
ADCY4	196883	broad.mit.edu	37	chr14	24789068	24789068	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcgaagaggacacaaacGcattcataggactggtggta	14	7	1	1	rs146019507	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:24789068G>A	uc001wov.2	-	21	2619	c.2613C>T	c.(2611-2613)TGC>TGT	p.C871C	ADCY4_uc001wow.2_Silent_p.C871C|ADCY4_uc010toh.1_Silent_p.C557C|ADCY4_uc001wox.2_Silent_p.C871C|ADCY4_uc001woy.2_Silent_p.C871C	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	871	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		GGACACAAACGCATTCATAGG	0.532													A	24789068	G	A	24789068	2	1	152	1	0	0	0	0	0	0	0	1	296	1079	38	1		1	ADCY4	14	24789068	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	238400	24789068	82560472	725	82542											
FOXG1	2290	broad.mit.edu	37	chr14	29237592	29237592	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtggaccggctggtcaaCggggagatcccgtacgccac	15	13	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:29237592C>T	uc001wqe.2	+	1	1306	c.1107C>T	c.(1105-1107)AAC>AAT	p.N369N		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	369					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGCTGGTCAACGGGGAGATCC	0.682													T	29237592	C	T	29237592	2	4	152	1	0	0	0	0	0	0	0	1	6007	535	19	1		1	FOXG1	14	29237592	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	4448524	29237592	78111948	726	82543											
HEATR5A	25938	broad.mit.edu	37	chr14	31856515	31856515	+	Frame_Shift_Del	DEL	A	A	-													cgcaaggcttaggatatgagAaaaaaaggcagcaaaatttt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:31856514_31856514GA>G	uc001wrf.4	-	7	1186	c.1001_1001TC>C	c.(1000-1002)tctfs	p.S334fs	HEATR5A_uc010ami.3_5'UTR|HEATR5A_uc001wrg.1_5'UTR|HEATR5A_uc010tpk.1_Frame_Shift_Del_p.S334fs	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	328							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TAGGATATGAGAAAAAAAGGC	0.403													-	31856515	A	-	31856515	7	5	152	1	0	1	0	1	0	0	0	0	7031	246	9	0	5256	0	HEATR5A	14	31856515	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	2618923	31856515	75493025	727	82544											
SDCCAG1	9147	broad.mit.edu	37	chr14	50262535	50262535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcgtttcattggctgcaCagccgcaacatttttgcttg	8	12	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:50262535C>T	uc001wxc.2	-	26	2661	c.2593G>A	c.(2593-2595)GTG>ATG	p.V865M	SDCCAG1_uc010anj.1_Missense_Mutation_p.V865M|SDCCAG1_uc001wwz.2_Missense_Mutation_p.V65M|SDCCAG1_uc001wxa.2_Missense_Mutation_p.V145M|SDCCAG1_uc010tqi.1_Missense_Mutation_p.V844M|SDCCAG1_uc001wxe.2_Missense_Mutation_p.V823M|SDCCAG1_uc001wxd.1_Missense_Mutation_p.V270M	NM_004713	NP_004704	O60524	NEMF_HUMAN	serologically defined colon cancer antigen 1	865						cytoplasm|nucleus					0	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)		ATTGGCTGCACAGCCGCAACA	0.363													T	50262535	C	T	50262535	3	4	152	1	0	0	0	0	1	0	0	0	13957	478	17	4	669	4	SDCCAG1	14	50262535	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	18406020	50262535	57087005	728	82545											
SOS2	6655	broad.mit.edu	37	chr14	50626743	50626743	+	Frame_Shift_Del	DEL	T	T	-													atttttctgaatttcattcaTttttttgatagccaggtgtt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:50626742_50626742AT>A	uc001wxs.4	-	9	1357	c.1259_1259AT>T	c.(1258-1260)atgfs	p.M420fs	SOS2_uc010tql.2_Frame_Shift_Del_p.M387fs|SOS2_uc010tqm.1_Non-coding_Transcript|SOS2_uc001wxt.2_Frame_Shift_Del_p.M108fs	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	420					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AATTTCATTCATTTTTTTGAT	0.358													-	50626743	T	-	50626743	7	5	152	1	0	1	0	1	0	0	0	0	14937	1493	52	0	2796	0	SOS2	14	50626743	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	364208	50626743	56722797	729	82546											
ARID4A	5926	broad.mit.edu	37	chr14	58831996	58831997	+	Frame_Shift_Ins	INS	-	-	AG													cctgtagtataattgtacaaINSgagagagagagcagagagaa							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:58831995_58831996A>AAG	uc001xdp.3	+	19	3442_3443	c.3188_3189A>AAG	c.(3187-3189)caafs	p.Q1063fs	ARID4A_uc001xdo.3_Frame_Shift_Ins_p.Q1063fs|ARID4A_uc001xdq.3_Frame_Shift_Ins_p.Q1063fs|ARID4A_uc010apg.1_Frame_Shift_Ins_p.Q741fs	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	1063					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATAATTGTACAAGAGAGAGAGA	0.386													AG	58831997	-	AG	58831996	7	5	152	1	0	1	1	0	0	0	0	0	919	69	3	0	3263	0	ARID4A	14	58831996	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	8205253	58831996	48517544	730	82547											
SLC38A6	145389	broad.mit.edu	37	chr14	61519066	61519066	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttttttcttatttccacaGgcattcgttttgctcatctt	4	10	4	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:61519066G>T	uc001xfg.1	+	16	1407	c.1291_splice	c.e16-1	p.A431_splice	SLC38A6_uc001xfh.1_Intron|SLC38A6_uc001xfi.2_Splice_Site|SLC38A6_uc001xfj.1_Splice_Site|SLC38A6_uc001xfk.2_Splice_Site|SLC38A6_uc010trz.1_Intron	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6						amino acid transport|sodium ion transport	integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		tatttcCACAGGCATTCGTTT	0.209													T	61519066	G	T	61519066	5	4	152	1	0	0	0	0	0	0	1	0	14608	1014	35	5	1352	5	SLC38A6	14	61519066	Splice_Site	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2687070	61519066	45830474	731	82548											
SFRS5	6430	broad.mit.edu	37	chr14	70235928	70235928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtaagaacagaaaatcGtcttatagttgagaatttat	7	5	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:70235928G>A	uc001xll.2	+	6	1777	c.326G>A	c.(325-327)CGT>CAT	p.R109H	SFRS5_uc001xlm.2_RNA|SFRS5_uc001xln.1_3'UTR|SFRS5_uc001xlo.2_Missense_Mutation_p.R109H|SFRS5_uc001xlp.2_Missense_Mutation_p.R109H|SFRS5_uc001xlq.2_Missense_Mutation_p.R106H	NM_006925	NP_008856	Q13243	SRSF5_HUMAN	splicing factor, arginine/serine-rich 5	109	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding				0				all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154)		ACAGAAAATCGTCTTATAGTT	0.363													A	70235928	G	A	70235928	3	1	152	1	0	0	0	0	1	0	0	0	14180	1145	40	1	340	1	SFRS5	14	70235928	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	8716862	70235928	37113612	732	82549											
PCNX	22990	broad.mit.edu	37	chr14	71517457	71517457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgctttccatgcttttgCtcagccttttgcagtgcctc	7	13	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:71517457C>T	uc001xmo.2	+	23	4873	c.4427C>T	c.(4426-4428)GCT>GTT	p.A1476V	PCNX_uc010are.1_Missense_Mutation_p.A1365V|PCNX_uc010arf.1_Missense_Mutation_p.A336V	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1476						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CATGCTTTTGCTCAGCCTTTT	0.398													T	71517457	C	T	71517457	3	4	152	1	0	0	0	0	1	0	0	0	11591	797	28	2	4517	2	PCNX	14	71517457	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1281529	71517457	35832083	733	82550											
SIPA1L1	26037	broad.mit.edu	37	chr14	72090785	72090785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgacactgagaggttcGgtcctggaggacgccattcc	12	12	1	2	rs113418569		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:72090785G>A	uc001xms.2	+	4	1998	c.1650G>A	c.(1648-1650)TCG>TCA	p.S550S	SIPA1L1_uc001xmt.2_Silent_p.S550S|SIPA1L1_uc001xmu.2_Silent_p.S550S|SIPA1L1_uc001xmv.2_Silent_p.S550S|SIPA1L1_uc010ttm.1_Silent_p.S25S	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	550					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGAGAGGTTCGGTCCTGGAGG	0.567													A	72090785	G	A	72090785	2	1	152	1	0	0	0	0	0	0	0	1	14329	1103	39	1		1	SIPA1L1	14	72090785	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	573328	72090785	35258755	734	82551											
C14orf43	91748	broad.mit.edu	37	chr14	74191999	74192001	+	In_Frame_Del	DEL	CTT	CTT	-													ttctgcaccaggaagaaatcCttcttgtagatggcaatgcc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:74191998_74192000CCTT>C	uc010tud.1	-	7	2796_2798	c.2549_2551AAGG>G	c.(2548-2553)aaggat>aGat	p.850_851KD>R	C14orf43_uc001xos.3_In_Frame_Del_p.115_116KD>R|C14orf43_uc001xot.3_In_Frame_Del_p.850_851KD>R|C14orf43_uc001xou.3_In_Frame_Del_p.850_851KD>R|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	850	SANT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		AGGAAGAAATCCTTCTTGTAGAT	0.571													-	74192001	CTT	-	74191999	7	5	152	1	0	1	0	1	0	0	0	0	1774	680	24	0	603	0	C14orf43	14	74191999	In_Frame_Del	DEL	CTT	TCGA-CD-8536-01A-11D-2340-08	2101214	74191999	33157541	735	82552											
KIAA0317	9870	broad.mit.edu	37	chr14	75134237	75134239	+	In_Frame_Del	DEL	AGA	AGA	-													ttgggccagcaaatttaaatAgaagattttattcgcattgg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:75134236_75134238TAGA>T	uc001xqb.3	-	15	2479_2481	c.1974_1976TCTA>A	c.(1972-1977)ttctat>ttAt	p.658_659FY>L	KIAA0317_uc010tut.1_In_Frame_Del_p.497_498FY>L	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	658	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		CAAATTTAAATAGAAGATTTTAT	0.463													-	75134239	AGA	-	75134237	7	5	152	1	0	1	0	1	0	0	0	0	8167	420	15	0	516	0	KIAA0317	14	75134237	In_Frame_Del	DEL	AGA	TCGA-CD-8536-01A-11D-2340-08	942238	75134237	32215303	736	82553											
ISM2	145501	broad.mit.edu	37	chr14	77948937	77948937	+	Frame_Shift_Del	DEL	G	G	-													agctaagggtatcctggggcGggggattgctgggctcagcc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:77948936_77948936CG>C	uc001xtz.3	-	3	776	c.702_702CG>G	c.(700-702)ccgfs	p.P234fs	ISM2_uc001xua.3_Intron|ISM2_uc001xty.3_Frame_Shift_Del_p.P146fs	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	234						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TATCCTGGGGCGGGGGATTGC	0.647													-	77948937	G	-	77948937	7	5	152	1	0	1	0	1	0	0	0	0	7861	1116	39	0	1030	0	ISM2	14	77948937	Frame_Shift_Del	DEL	G	TCGA-CD-8536-01A-11D-2340-08	2814700	77948937	29400603	737	82554											
RIN3	79890	broad.mit.edu	37	chr14	93119189	93119189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgctttcctctccaacaacCgcaagctgtacaagaaggtg	8	13	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:93119189C>T	uc001yap.2	+	6	1947	c.1795C>T	c.(1795-1797)CGC>TGC	p.R599C	RIN3_uc010auk.2_Missense_Mutation_p.R261C|RIN3_uc001yaq.2_Missense_Mutation_p.R524C|RIN3_uc001yar.1_Missense_Mutation_p.R261C|RIN3_uc001yas.1_Missense_Mutation_p.R261C	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	599	Interaction with RAB5B.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				CTCCAACAACCGCAAGCTGTA	0.577													T	93119189	C	T	93119189	3	4	152	1	0	0	0	0	1	0	0	0	13373	652	23	1	1817	1	RIN3	14	93119189	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	15170252	93119189	14230351	738	82555											
SERPINA1	5265	broad.mit.edu	37	chr14	94844975	94844975	+	Frame_Shift_Del	DEL	G	G	-													gtcagcacagccttatgcacGgcctggaggggagagaagca							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:94844974_94844974CG>C	uc001ycy.4	-	6	1623	c.1069_1069CG>G	c.(1069-1071)gtgfs	p.V357fs	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Frame_Shift_Del_p.V357fs|SERPINA1_uc010auy.3_Frame_Shift_Del_p.V357fs|SERPINA1_uc001ycz.4_Frame_Shift_Del_p.V357fs|SERPINA1_uc010auz.3_Frame_Shift_Del_p.V357fs|SERPINA1_uc010ava.3_Frame_Shift_Del_p.V357fs|SERPINA1_uc001ydb.4_Frame_Shift_Del_p.V357fs|SERPINA1_uc010avb.3_Frame_Shift_Del_p.V357fs|SERPINA1_uc001ydc.4_Frame_Shift_Del_p.V357fs|SERPINA1_uc010auw.3_Frame_Shift_Del_p.V357fs|SERPINA1_uc010aux.3_Frame_Shift_Del_p.V357fs	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	357					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GCCTTATGCACGGCCTGGAGG	0.592													-	94844975	G	-	94844975	7	5	152	1	0	1	0	1	0	0	0	0	14086	1103	39	0	192	0	SERPINA1	14	94844975	Frame_Shift_Del	DEL	G	TCGA-CD-8536-01A-11D-2340-08	1725786	94844975	12504565	739	82556											
C14orf49	161176	broad.mit.edu	37	chr14	95884189	95884189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtggtgggccattgtagcGcagcatgagcgtgaaggagc	19	7	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:95884189G>A	uc001yei.3	-	17	2917	c.2902C>T	c.(2902-2904)CGC>TGC	p.R968C	C14orf49_uc010avi.2_Missense_Mutation_p.R963C	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	968	KASH.|Perinuclear space (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CCATTGTAGCGCAGCATGAGC	0.532													A	95884189	G	A	95884189	3	1	152	1	0	0	0	0	1	0	0	0	1776	1087	38	1	29	1	C14orf49	14	95884189	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1039214	95884189	11465351	740	82557											
EVL	51466	broad.mit.edu	37	chr14	100603983	100603983	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctcgattctgtccaggTgagctgccccaggaaggcct	12	13	1	1	rs111897088		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:100603983T>C	uc001ygt.2	+	10	1264	c.1025_splice	c.e10+2	p.R342_splice	EVL_uc001ygv.2_Splice_Site_p.R348_splice|EVL_uc001ygu.2_Splice_Site_p.R344_splice|EVL_uc010avu.2_Splice_Site_p.R201_splice	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Enah/Vasp-like						actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			large_intestine(2)|ovary(1)	3		Melanoma(154;0.152)				TCTGTCCAGGTGAGCTGCCCC	0.607													C	100603983	T	C	100603983	5	2	152	1	0	0	0	0	0	0	1	0	5291	1710	59	3	1071	3	EVL	14	100603983	Splice_Site	SNP	T	TCGA-CD-8536-01A-11D-2340-08	4719794	100603983	6745557	741	82558											
BEGAIN	57596	broad.mit.edu	37	chr14	101004414	101004414	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggggctgaggcgggcggcAggatgcatttccggggaggc	22	8	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:101004414A>C	uc010txa.1	-	6	1820	c.1674T>G	c.(1672-1674)CCT>CCG	p.P558P	BEGAIN_uc001yhp.2_Silent_p.P494P|BEGAIN_uc001yhq.2_Silent_p.P558P	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	558						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				GGCGGGCGGCAGGATGCATTT	0.692													C	101004414	A	C	101004414	2	2	152	1	0	0	0	0	0	0	0	1	1397	175	7	5		5	BEGAIN	14	101004414	Silent	SNP	A	TCGA-CD-8536-01A-11D-2340-08	400431	101004414	6345126	742	82559											
PPP2R5C	5527	broad.mit.edu	37	chr14	102391579	102391579	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggaagctcactgcagggcCgatgagctggcctcccagga	14	12	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:102391579C>T	uc001yko.2	+	14	1685	c.1545C>T	c.(1543-1545)GCC>GCT	p.A515A	PPP2R5C_uc010txr.1_Silent_p.A546A|PPP2R5C_uc001ykk.2_Silent_p.A531A|PPP2R5C_uc001ykp.2_Silent_p.A476A	NM_002719	NP_002710	Q13362	2A5G_HUMAN	gamma isoform of regulatory subunit B56, protein	515					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity			ovary(1)|breast(1)	2						ACTGCAGGGCCGATGAGCTGG	0.483													T	102391579	C	T	102391579	2	4	152	1	0	0	0	0	0	0	0	1	12394	639	23	1		1	PPP2R5C	14	102391579	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1387165	102391579	4957961	743	82560											
DYNC1H1	1778	broad.mit.edu	37	chr14	102483456	102483458	+	In_Frame_Del	DEL	CTC	CTC	-													caacttctccagtgctactaCtccagagctgcttctgaaga							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:102483455_102483457ACTC>A	uc001yks.2	+	38	8043_8045	c.7879_7881ACTC>A	c.(7879-7881)act>A	p.T2627del	DYNC1H1_uc001ykt.1_In_Frame_Del_p.T118del	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2627	AAA 3 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGTGCTACTACTCCAGAGCTGC	0.517													-	102483458	CTC	-	102483456	7	5	152	1	0	1	0	1	0	0	0	0	4841	565	20	0	8034	0	DYNC1H1	14	102483456	In_Frame_Del	DEL	CTC	TCGA-CD-8536-01A-11D-2340-08	91877	102483456	4866084	744	82561											
TECPR2	9895	broad.mit.edu	37	chr14	102891540	102891540	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagcttacctgagaggcAcctggggcttgtttcatgtt	12	9	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:102891540A>G	uc001ylw.1	+	6	1011	c.863A>G	c.(862-864)CAC>CGC	p.H288R	TECPR2_uc010txw.1_3'UTR|TECPR2_uc010awl.2_Missense_Mutation_p.H288R|TECPR2_uc010txx.1_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	288							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						CCTGAGAGGCACCTGGGGCTT	0.478													G	102891540	A	G	102891540	3	3	152	1	0	0	0	0	1	0	0	0	15741	159	6	3	881	3	TECPR2	14	102891540	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	408084	102891540	4458000	745	82562											
TNFAIP2	7127	broad.mit.edu	37	chr14	103601646	103601646	+	Frame_Shift_Del	DEL	G	G	-													agcatcttggacgtcagcatGggggcgcaggagccctcccg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:103601645_103601645TG>T	uc001ymm.1	+	10	2044	c.1913_1913TG>T	c.(1912-1914)atgfs	p.M638fs	TNFAIP2_uc010awo.1_Frame_Shift_Del_p.M298fs|TNFAIP2_uc010txz.1_Frame_Shift_Del_p.M307fs|TNFAIP2_uc010tya.1_Frame_Shift_Del_p.M121fs	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 2 (TNFAIP2), mRNA.	638					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			GACGTCAGCATGGGGGCGCAG	0.587													-	103601646	G	-	103601646	7	5	152	1	0	1	0	1	0	0	0	0	16270	1348	47	0	1956	0	TNFAIP2	14	103601646	Frame_Shift_Del	DEL	G	TCGA-CD-8536-01A-11D-2340-08	710106	103601646	3747894	746	82563											
RYR3	6263	broad.mit.edu	37	chr15	33765705	33765705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgagggacttgggaatcGcctgtgcttcttggaaccca	13	11	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:33765705G>A	uc001zhi.2	+	2	207	c.137G>A	c.(136-138)CGC>CAC	p.R46H	RYR3_uc010bar.2_Missense_Mutation_p.R46H	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	46	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTTGGGAATCGCCTGTGCTTC	0.547													A	33765705	G	A	33765705	3	1	152	1	0	0	0	0	1	0	0	0	13770	1087	38	1	143	1	RYR3	15	33765705	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08		33765705	68765687	747	82564											
RYR3	6263	broad.mit.edu	37	chr15	34110852	34110852	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccactacatcagatcattcTctattttagccgcaacgctc	4	15	3	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:34110852T>C	uc001zhi.2	+	76	10743	c.10673T>C	c.(10672-10674)CTC>CCC	p.L3558P	RYR3_uc010bar.2_Missense_Mutation_p.L3553P	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3558					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGATCATTCTCTATTTTAGC	0.493													C	34110852	T	C	34110852	3	2	152	1	0	0	0	0	1	0	0	0	13770	1551	54	3	10975	3	RYR3	15	34110852	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	345147	34110852	68420540	748	82565											
ACTC1	70	broad.mit.edu	37	chr15	35086888	35086888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggaagtttacctggtgcCgcgggcggcccacgatggac	17	12	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:35086888C>T	uc001ziu.1	-	2	365	c.122G>A	c.(121-123)CGG>CAG	p.R41Q	uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	cardiac muscle alpha actin 1 proprotein	41					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TACCTGGTGCCGCGGGCGGCC	0.667													T	35086888	C	T	35086888	3	4	152	1	0	0	0	0	1	0	0	0	195	652	23	1	1035	1	ACTC1	15	35086888	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	976036	35086888	67444504	749	82566											
THBS1	7057	broad.mit.edu	37	chr15	39874882	39874882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacgtccccatccaaagcGtcttcaccagagacctggcc	9	16	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:39874882G>A	uc001zkh.2	+	3	735	c.556G>A	c.(556-558)GTC>ATC	p.V186I		NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	186	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CATCCAAAGCGTCTTCACCAG	0.562													A	39874882	G	A	39874882	3	1	152	1	0	0	0	0	1	0	0	0	15850	1145	40	1	562	1	THBS1	15	39874882	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	4787994	39874882	62656510	750	82567											
PAK6	56924	broad.mit.edu	37	chr15	40565645	40565645	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgggacatcaagagtgActccatcctgctgaccctcg	9	16	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:40565645A>G	uc010bbl.2	+	8	2029	c.1589A>G	c.(1588-1590)GAC>GGC	p.D530G	PAK6_uc010bbm.2_Missense_Mutation_p.D530G|PAK6_uc001zky.3_Missense_Mutation_p.D530G|PAK6_uc010bbn.2_Missense_Mutation_p.D530G|PAK6_uc001zlb.2_Missense_Mutation_p.D530G	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	530	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(5)|large_intestine(1)|ovary(1)|skin(1)	8		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		ATCAAGAGTGACTCCATCCTG	0.592													G	40565645	A	G	40565645	3	3	152	1	0	0	0	0	1	0	0	0	11404	275	10	3	1607	3	PAK6	15	40565645	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	690763	40565645	61965747	751	82568											
INO80	54617	broad.mit.edu	37	chr15	41377755	41377755	+	Frame_Shift_Del	DEL	T	T	-													aagttcttcatctcttcgtcTttttttcttcacttttttca							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:41377754_41377754CT>C	uc001zni.3	-	6	899	c.686_686AG>G	c.(685-687)agafs	p.R229fs	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	229	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATCTCTTCGTCTTTTTTTCTT	0.448													-	41377755	T	-	41377755	7	5	152	1	0	1	0	1	0	0	0	0	7746	1617	56	0	4105	0	INO80	15	41377755	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	812110	41377755	61153637	752	82569											
MAP1A	4130	broad.mit.edu	37	chr15	43815956	43815956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgatgagccggaggagcGcccagctccacccagatttc	11	15	0	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:43815956G>A	uc001zrt.2	+	4	2752	c.2285G>A	c.(2284-2286)CGC>CAC	p.R762H		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	762						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCGGAGGAGCGCCCAGCTCCA	0.547													A	43815956	G	A	43815956	3	1	152	1	0	0	0	0	1	0	0	0	9227	1087	38	1	2287	1	MAP1A	15	43815956	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2438201	43815956	58715436	753	82570											
PPIP5K1	9677	broad.mit.edu	37	chr15	43827565	43827565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgatgttcttcagccacGtgtgaatttagggagggttg	13	7	2	2	rs142076434	by1000genomes	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:43827565G>A	uc001zrw.2	-	31	3792	c.3609C>T	c.(3607-3609)CAC>CAT	p.H1203H	PPIP5K1_uc001zrx.1_Silent_p.H1176H|PPIP5K1_uc001zru.2_Silent_p.H1178H|PPIP5K1_uc001zry.3_Silent_p.H1178H|PPIP5K1_uc001zrv.2_Intron	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	histidine acid phosphatase domain containing 2A	1203					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity				0						CTTCAGCCACGTGTGAATTTA	0.522													A	43827565	G	A	43827565	2	1	152	1	0	0	0	0	0	0	0	1	12332	1136	40	1		1	PPIP5K1	15	43827565	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	11609	43827565	58703827	754	82571											
EIF3J	8669	broad.mit.edu	37	chr15	44829562	44829562	+	Frame_Shift_Del	DEL	G	G	-													gaagacccagtgcggaaggtGgggggcggcggcactgccgg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:44829562delG	uc001ztv.2	+	2	211	c.84delG	c.(82-84)GTGfs	p.V28fs	uc001ztu.2_5'Flank|EIF3J_uc010ueg.1_Frame_Shift_Del_p.V28fs|EIF3J_uc001ztw.2_Frame_Shift_Del_p.V28fs	NM_003758	NP_003749	O75822	EIF3J_HUMAN	eukaryotic translation initiation factor 3,	28	Sufficient for interaction with EIF3B.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity				0		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		TGCGGAAGGTGGGGGGCGGCG	0.637													-	44829562	G	-	44829562	7	5	152	1	0	1	0	1	0	0	0	0	5020	1335	47	0	90	0	EIF3J	15	44829562	Frame_Shift_Del	DEL	G	TCGA-CD-8536-01A-11D-2340-08	1001997	44829562	57701830	755	82572											
B2M	567	broad.mit.edu	37	chr15	45007740	45007740	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagttgacttactgaagaatGgagagagaattgaaaaagtg	12	2	0	6			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:45007740G>T	uc001zuc.2	+	2	247	c.187G>T	c.(187-189)GGA>TGA	p.G63*	B2M_uc010uek.1_Nonsense_Mutation_p.G63*|B2M_uc010bdx.1_Nonsense_Mutation_p.G63*	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	63	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			ovary(2)|skin(1)	3		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		ACTGAAGAATGGAGAGAGAAT	0.408													T	45007740	G	T	45007740	4	4	152	1	0	0	0	0	0	1	0	0	1244	1349	47	5	193	5	B2M	15	45007740	Nonsense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	178178	45007740	57523652	756	82573											
SLC12A1	6557	broad.mit.edu	37	chr15	48522654	48522654	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tataggctccatcacagtggTgattcttctaggaatttcag	9	8	4	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:48522654T>C	uc001zwn.3	+	7	1145	c.929T>C	c.(928-930)GTG>GCG	p.V310A	SLC12A1_uc010uew.1_Missense_Mutation_p.V116A|SLC12A1_uc010bem.2_Missense_Mutation_p.V310A|SLC12A1_uc010uex.1_Missense_Mutation_p.V310A|SLC12A1_uc001zwq.3_Missense_Mutation_p.V81A|SLC12A1_uc001zwr.3_Missense_Mutation_p.V37A	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	310	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATCACAGTGGTGATTCTTCTA	0.413													C	48522654	T	C	48522654	3	2	152	1	0	0	0	0	1	0	0	0	14382	1696	59	3	1051	3	SLC12A1	15	48522654	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	3514914	48522654	54008738	757	82574											
FAM63B	54629	broad.mit.edu	37	chr15	59146784	59146784	+	Frame_Shift_Del	DEL	A	A	-													agataaagaaaaagaaaaggAaaaaaatagctgtgttattt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:59146783_59146783GA>G	uc002afj.3	+	8	2042	c.1840_1840GA>G	c.(1840-1842)gaafs	p.E614fs	FAM63B_uc002afi.3_Frame_Shift_Del_p.E613fs|FAM63B_uc002afk.3_Non-coding_Transcript|FAM63B_uc002afl.3_Non-coding_Transcript	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	Homo sapiens family with sequence similarity 63, member B (FAM63B), transcript variant 1, mRNA.	614										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AAAAGAAAAGGAAAAAAATAG	0.413													-	59146784	A	-	59146784	7	5	152	1	0	1	0	1	0	0	0	0	5597	246	9	0	1875	0	FAM63B	15	59146784	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	10624130	59146784	43384608	758	82575											
NARG2	79664	broad.mit.edu	37	chr15	60740216	60740216	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgtggtcttgtctctatccTctggacactgcagcgtacga	10	12	3	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:60740216T>C	uc002agp.2	-	11	2483	c.2248A>G	c.(2248-2250)AGG>GGG	p.R750G	NARG2_uc002ago.2_Missense_Mutation_p.R613G|NARG2_uc002agq.3_Intron	NM_024611	NP_078887	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	750						nucleus				ovary(1)|lung(1)	2						GTCTCTATCCTCTGGACACTG	0.368													C	60740216	T	C	60740216	3	2	152	1	0	0	0	0	1	0	0	0	10169	1550	54	3	724	3	NARG2	15	60740216	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	1593432	60740216	41791176	759	82576											
HERC1	8925	broad.mit.edu	37	chr15	64020012	64020012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatctggcagagcatactGccagcagctgagacgtatat	10	10	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:64020012G>A	uc002amp.2	-	17	3328	c.3180C>T	c.(3178-3180)GGC>GGT	p.G1060G	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	1060					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						AGAGCATACTGCCAGCAGCTG	0.413													A	64020012	G	A	64020012	2	1	152	1	0	0	0	0	0	0	0	1	7057	1306	46	2		2	HERC1	15	64020012	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	3279796	64020012	38511380	760	82577											
GOLGA6B	55889	broad.mit.edu	37	chr15	72953615	72953615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatccagtcctcgagctGcagagaagcggtcctccacc	9	17	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:72953615G>A	uc010uks.1	+	8	616	c.575G>A	c.(574-576)TGC>TAC	p.C192Y		NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	golgi autoantigen, golgin subfamily a, 6B	192	Potential.										0						TCCTCGAGCTGCAGAGAAGCG	0.567													A	72953615	G	A	72953615	3	1	152	1	0	0	0	0	1	0	0	0	6558	1319	46	2	605	2	GOLGA6B	15	72953615	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	8933603	72953615	29577777	761	82578											
HCN4	10021	broad.mit.edu	37	chr15	73617684	73617684	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccaggatgctctcctcgtcGaacatcttgccctggtagcg	10	15	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:73617684G>A	uc002avp.2	-	5	2686	c.1692C>T	c.(1690-1692)TTC>TTT	p.F564F		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	564	Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		TCTCCTCGTCGAACATCTTGC	0.657													A	73617684	G	A	73617684	2	1	152	1	0	0	0	0	0	0	0	1	6999	1049	37	1		1	HCN4	15	73617684	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	664069	73617684	28913708	762	82579											
COMMD4	54939	broad.mit.edu	37	chr15	75631397	75631397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgcggccaagcacagtgtcGatggcgaatccttgtccagt	13	11	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:75631397G>A	uc002azy.2	+	5	310	c.253G>A	c.(253-255)GAT>AAT	p.D85N	COMMD4_uc010umf.1_3'UTR|COMMD4_uc002azz.2_Silent_p.S67S|COMMD4_uc002baa.2_Missense_Mutation_p.D85N|COMMD4_uc010umg.1_3'UTR|COMMD4_uc010umh.1_RNA	NM_017828	NP_060298	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	85						cytoplasm	protein binding				0						GCACAGTGTCGATGGCGAATC	0.632													A	75631397	G	A	75631397	3	1	152	1	0	0	0	0	1	0	0	0	3718	1058	37	1	271	1	COMMD4	15	75631397	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2013713	75631397	26899995	763	82580											
SGK269	79834	broad.mit.edu	37	chr15	77473383	77473383	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagagacttgtttcgcaGggggatggtattccattttt	12	7	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:77473383G>A	uc002bcm.2	-	3	1194	c.886C>T	c.(886-888)CTG>TTG	p.L296L	SGK269_uc002bcn.2_Silent_p.L296L	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	296					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		TTGTTTCGCAGGGGGATGGTA	0.448													A	77473383	G	A	77473383	2	1	152	1	0	0	0	0	0	0	0	1	14211	991	35	4		4	SGK269	15	77473383	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1841986	77473383	25058009	764	82581											
IREB2	3658	broad.mit.edu	37	chr15	78778082	78778082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgttgaagctggtctgCgtgttaaaccttatataaga	11	6	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:78778082C>T	uc002bdr.2	+	13	1771	c.1609C>T	c.(1609-1611)CGT>TGT	p.R537C	IREB2_uc010unb.1_Missense_Mutation_p.R287C	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	537							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AGCTGGTCTGCGTGTTAAACC	0.393													T	78778082	C	T	78778082	3	4	152	1	0	0	0	0	1	0	0	0	7826	768	27	1	1659	1	IREB2	15	78778082	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1304699	78778082	23753310	765	82582											
ZFAND6	54469	broad.mit.edu	37	chr15	80412779	80412779	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtacaaatggcatgtgttcAgtatgctataaagaacatct	8	7	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:80412779A>G	uc002bfe.1	+	3	404	c.93A>G	c.(91-93)TCA>TCG	p.S31S	ZFAND6_uc002bff.1_Silent_p.S31S|ZFAND6_uc002bfg.1_Silent_p.S31S|ZFAND6_uc002bfh.1_Silent_p.S31S|ZFAND6_uc002bfi.1_Silent_p.S31S	NM_019006	NP_061879	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	31	A20-type.						DNA binding|zinc ion binding				0						GCATGTGTTCAGTATGCTATA	0.393													G	80412779	A	G	80412779	2	3	152	1	0	0	0	0	0	0	0	1	17628	175	7	3		3	ZFAND6	15	80412779	Silent	SNP	A	TCGA-CD-8536-01A-11D-2340-08	1634697	80412779	22118613	766	82583											
CPEB1	64506	broad.mit.edu	37	chr15	83215935	83215935	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatctccacaaaagcagcGctgactgctttcaggtaact	8	11	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:83215935G>A	uc002bit.2	-	10	1784	c.1647C>T	c.(1645-1647)AGC>AGT	p.S549S	CPEB1_uc002biq.2_Silent_p.S409S|CPEB1_uc002bir.2_Silent_p.S414S|CPEB1_uc002bis.2_Silent_p.S409S|CPEB1_uc010uod.1_Silent_p.S258S|CPEB1_uc010uoe.1_Silent_p.S487S|CPEB1_uc002biu.2_Silent_p.S511S|CPEB1_uc010uof.1_Silent_p.S409S|CPEB1_uc002biv.2_Silent_p.S484S|CPEB1_uc002bip.2_Silent_p.S258S	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	489	RRM 2.|Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAAAAGCAGCGCTGACTGCTT	0.463													A	83215935	G	A	83215935	2	1	152	1	0	0	0	0	0	0	0	1	3800	1078	38	1		1	CPEB1	15	83215935	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2803156	83215935	19315457	767	82584											
FSD2	123722	broad.mit.edu	37	chr15	83456139	83456139	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttcctcccccgattcctcctCcattgtaactctggaagtcc	5	17	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:83456139C>G	uc002bjd.2	-	2	171	c.4G>C	c.(4-6)GAG>CAG	p.E2Q	FSD2_uc010uol.1_Missense_Mutation_p.E2Q|FSD2_uc010uom.1_Missense_Mutation_p.E2Q	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing	2										central_nervous_system(1)	1						GATTCCTCCTCCATTGTAACT	0.478													G	83456139	C	G	83456139	3	3	152	1	0	0	0	0	1	0	0	0	6071	864	30	5	2293	5	FSD2	15	83456139	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	240204	83456139	19075253	768	82585											
BNC1	646	broad.mit.edu	37	chr15	83926569	83926569	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagtcccaggaagaatgGctgctactctctgacttcat	9	11	3	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:83926569G>A	uc002bjt.1	-	5	2698	c.2610C>T	c.(2608-2610)AGC>AGT	p.S870S	BNC1_uc010uos.1_Silent_p.S858S	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	870	Ser-rich.				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						AGGAAGAATGGCTGCTACTCT	0.572													A	83926569	G	A	83926569	2	1	152	1	0	0	0	0	0	0	0	1	1474	1194	42	2		2	BNC1	15	83926569	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	470430	83926569	18604823	769	82586											
AKAP13	11214	broad.mit.edu	37	chr15	86123308	86123309	+	Frame_Shift_Del	DEL	AC	AC	-													agactctgcatgtcaacagaAcacagtgacttctagtggcg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:86123307_86123308AAC>A	uc002blv.1	+	6	2178_2179	c.2008_2009AAC>A	c.(2008-2010)aacfs	p.N670fs	AKAP13_uc002blt.1_Frame_Shift_Del_p.N670fs|AKAP13_uc002blu.1_Frame_Shift_Del_p.N670fs|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	670					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATGTCAACAGAACACAGTGACT	0.446													-	86123309	AC	-	86123308	7	5	152	1	0	1	0	1	0	0	0	0	449	43	2	0	2031	0	AKAP13	15	86123308	Frame_Shift_Del	DEL	AC	TCGA-CD-8536-01A-11D-2340-08	2196739	86123308	16408084	770	82587											
FANCI	55215	broad.mit.edu	37	chr15	89844613	89844613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattttaatagcaaagaagcCctcctgctagtcacggttct	8	10	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:89844613C>T	uc010bnp.1	+	27	3036	c.2946C>T	c.(2944-2946)GCC>GCT	p.A982A	FANCI_uc002bnm.1_Silent_p.A922A|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Silent_p.A743A|FANCI_uc002bnq.1_Silent_p.A395A	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	982					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCAAAGAAGCCCTCCTGCTAG	0.453								Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				T	89844613	C	T	89844613	2	4	152	1	0	0	0	0	0	0	0	1	5669	610	22	4		4	FANCI	15	89844613	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	3721305	89844613	12686779	771	82588											
ADAMTS17	170691	broad.mit.edu	37	chr15	100591781	100591781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccacggccactcacctccGccgcactgcacactgcaccc	7	22	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:100591781G>A	uc002bvv.1	-	17	2530	c.2451C>T	c.(2449-2451)GGC>GGT	p.G817G		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	817	TSP type-1 2.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ACTCACCTCCGCCGCACTGCA	0.567													A	100591781	G	A	100591781	2	1	152	1	0	0	0	0	0	0	0	1	262	1074	38	1		1	ADAMTS17	15	100591781	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	10747168	100591781	1939611	772	82589											
PDIA2	64714	broad.mit.edu	37	chr16	336417	336417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagttaagaccctcgtggGcaagaattttgagcaggtgg	14	8	0	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:336417G>A	uc002cgn.1	+	13	2292	c.1184G>A	c.(1183-1185)GGC>GAC	p.G395D	PDIA2_uc010bqt.1_Missense_Mutation_p.G240D|PDIA2_uc002cgo.1_Missense_Mutation_p.G395D	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	395	Thioredoxin 2.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)|skin(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				ACCCTCGTGGGCAAGAATTTT	0.577													A	336417	G	A	336417	3	1	152	1	0	0	0	0	1	0	0	0	11668	1203	42	2	1214	2	PDIA2	16	336417	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08		336417	90018336	773	82590											
MSLN	10232	broad.mit.edu	37	chr16	816794	816794	+	Frame_Shift_Del	DEL	C	C	-													ccgaggagctgagctccgtgCcccccagcagcatctggtga							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:816793_816793GC>G	uc002cjw.2	+	12	1491	c.1380_1380GC>G	c.(1378-1380)gtgfs	p.V460fs	MSLN_uc002cju.1_Frame_Shift_Del_p.V452fs|MSLN_uc002cjt.1_Frame_Shift_Del_p.V452fs|MSLN_uc010brd.1_Frame_Shift_Del_p.V451fs|MSLN_uc002cjy.1_Frame_Shift_Del_p.V117fs	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	460					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TGAGCTCCGTGCCCCCCAGCA	0.657													-	816794	C	-	816794	7	5	152	1	0	1	0	1	0	0	0	0	9881	739	26	0	1427	0	MSLN	16	816794	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	480377	816794	89537959	774	82591											
TRAP1	10131	broad.mit.edu	37	chr16	3736090	3736090	+	Frame_Shift_Del	DEL	T	T	-													gacaccagtttgtgacgcagTttttccaaggcatcgctggc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:3736089_3736089GT>G	uc002cvt.4	-	3	468	c.379_379AC>C	c.(379-381)ctgfs	p.L127fs	TRAP1_uc010uxf.2_Frame_Shift_Del_p.L74fs	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	Homo sapiens TNF receptor-associated protein 1 (TRAP1), mRNA.	127					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TTGTGACGCAGTTTTTCCAAG	0.512													-	3736090	T	-	3736090	7	5	152	1	0	1	0	1	0	0	0	0	16452	1722	60	0	1796	0	TRAP1	16	3736090	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	2919296	3736090	86618663	775	82592											
DNAJA3	9093	broad.mit.edu	37	chr16	4487404	4487404	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcatgtttttcccttagcTtgccaagaagtatcaccctg	6	11	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:4487404T>C	uc002cwk.2	+	3	372	c.347T>C	c.(346-348)CTT>CCT	p.L116P	DNAJA3_uc002cwl.2_Missense_Mutation_p.L116P|DNAJA3_uc010uxk.1_Intron	NM_005147	NP_005138	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	116	J.				activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			ovary(2)|breast(2)	4						TTCCCTTAGCTTGCCAAGAAG	0.438													C	4487404	T	C	4487404	3	2	152	1	0	0	0	0	1	0	0	0	4613	1623	56	3	357	3	DNAJA3	16	4487404	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	751314	4487404	85867349	776	82593											
A2BP1	54715	broad.mit.edu	37	chr16	7568167	7568167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtaatcaggaagcagccGctgcccctgacacaatggct	12	12	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:7568167G>A	uc002cys.2	+	5	1034	c.46G>A	c.(46-48)GCT>ACT	p.A16T	A2BP1_uc010buf.1_Missense_Mutation_p.A16T|A2BP1_uc002cyr.1_Missense_Mutation_p.A16T|A2BP1_uc002cyt.2_Missense_Mutation_p.A16T|A2BP1_uc010uxz.1_Missense_Mutation_p.A59T|A2BP1_uc010uya.1_Missense_Mutation_p.A52T|A2BP1_uc002cyv.1_Missense_Mutation_p.A16T|A2BP1_uc010uyb.1_Missense_Mutation_p.A16T|A2BP1_uc002cyw.2_Missense_Mutation_p.A36T|A2BP1_uc002cyy.2_Missense_Mutation_p.A36T|A2BP1_uc002cyx.2_Missense_Mutation_p.A36T|A2BP1_uc010uyc.1_Missense_Mutation_p.A36T	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	16					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		GGAAGCAGCCGCTGCCCCTGA	0.592													A	7568167	G	A	7568167	3	1	152	1	0	0	0	0	1	0	0	0	3	1087	38	1	143	1	A2BP1	16	7568167	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	3080763	7568167	82786586	777	82594											
EMP2	2013	broad.mit.edu	37	chr16	10626816	10626816	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgctgatgaaggtgcaggcGaaggccacccacgccaggat	14	13	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:10626816G>A	uc002czx.2	-	5	644	c.450C>T	c.(448-450)TTC>TTT	p.F150F		NM_001424	NP_001415	P54851	EMP2_HUMAN	epithelial membrane protein 2	150	Helical; (Potential).				cell proliferation	integral to membrane					0						AGGTGCAGGCGAAGGCCACCC	0.532													A	10626816	G	A	10626816	2	1	152	1	0	0	0	0	0	0	0	1	5102	1049	37	1		1	EMP2	16	10626816	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	3058649	10626816	79727937	778	82595											
ZC3H7A	29066	broad.mit.edu	37	chr16	11873222	11873222	+	Splice_Site	DEL	A	A	-													gagagcacgcaaatatacctAaaaaaaagaaagttaccact							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:11873221_11873221TA>T	uc002dbk.3	-	3	307	c.109_splice	c.e3-1	p.V37_splice	ZC3H7A_uc002dbl.3_Splice_Site_p.V37_splice|ZC3H7A_uc002dbm.2_Splice_Site_p.V37_splice	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	37						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CAAATATACCTAAAAAAAAGA	0.338													-	11873222	A	-	11873222	8	5	152	1	0	1	0	1	0	0	1	0	17569	377	13	0		0	ZC3H7A	16	11873222	Splice_Site	DEL	A	TCGA-CD-8536-01A-11D-2340-08	1246406	11873222	78481531	779	82596											
PDXDC1	23042	broad.mit.edu	37	chr16	15129376	15129376	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtcacgctgcctccaacGccctcgggcagtcgcaccaa	11	17	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:15129376G>A	uc002dda.3	+	22	2297	c.2073G>A	c.(2071-2073)ACG>ACA	p.T691T	PDXDC1_uc010uzl.1_Silent_p.T676T|PDXDC1_uc010uzm.1_Silent_p.T600T|PDXDC1_uc002ddb.3_Silent_p.T664T|PDXDC1_uc010uzn.1_Silent_p.T663T|PDXDC1_uc002ddc.2_Intron	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain	691					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	TGCCTCCAACGCCCTCGGGCA	0.567													A	15129376	G	A	15129376	2	1	152	1	0	0	0	0	0	0	0	1	11696	1074	38	1		1	PDXDC1	16	15129376	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	3256154	15129376	75225377	780	82597											
ABCC6	368	broad.mit.edu	37	chr16	16248503	16248503	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctcaggtcctcgcctcggTcagcacacttgtactgcagc	9	16	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:16248503T>C	uc002den.3	-	29	4227	c.4190A>G	c.(4189-4191)GAC>GGC	p.D1397G	ABCC6_uc010bvo.2_RNA|ABCC6_uc002dem.2_Missense_Mutation_p.D149G	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	1397	Cytoplasmic (By similarity).|ABC transporter 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTCGCCTCGGTCAGCACACTT	0.647													C	16248503	T	C	16248503	3	2	152	1	0	0	0	0	1	0	0	0	57	1667	58	3	333	3	ABCC6	16	16248503	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	1119127	16248503	74106250	781	82598											
TMC7	79905	broad.mit.edu	37	chr16	19056283	19056283	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatcacatcctgtgatgatgAcacatgtgacctttgcggct	10	10	1	4			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:19056283A>T	uc002dfq.2	+	10	1545	c.1415A>T	c.(1414-1416)GAC>GTC	p.D472V	TMC7_uc010vao.1_3'UTR|TMC7_uc002dfp.2_Missense_Mutation_p.D472V|TMC7_uc010vap.1_Missense_Mutation_p.D362V	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7 isoform a	472	Cytoplasmic (Potential).					integral to membrane				skin(2)|ovary(1)	3						TGTGATGATGACACATGTGAC	0.567													T	19056283	A	T	19056283	3	4	152	1	0	0	0	0	1	0	0	0	15987	275	10	5	1453	5	TMC7	16	19056283	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	2807780	19056283	71298470	782	82599											
GPR139	124274	broad.mit.edu	37	chr16	20043389	20043389	+	Frame_Shift_Del	DEL	G	G	-													gtaaagaatcatgatgatgcGgggggcccaaagtgtggcaa							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:20043389delG	uc002dgu.1	-	2	892	c.730delC	c.(730-732)CGCfs	p.R244fs	GPR139_uc010vaw.1_Frame_Shift_Del_p.R151fs	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	244	Helical; Name=6; (Potential).					integral to membrane|plasma membrane				ovary(2)	2						ATGATGATGCGGGGGGCCCAA	0.542													-	20043389	G	-	20043389	7	5	152	1	0	1	0	1	0	0	0	0	6648	1116	39	0	335	0	GPR139	16	20043389	Frame_Shift_Del	DEL	G	TCGA-CD-8536-01A-11D-2340-08	987106	20043389	70311364	783	82600											
GP2	2813	broad.mit.edu	37	chr16	20335551	20335551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtccaggtccagcccatacGaactggcttcaatggggttt	11	11	1	0	rs140222432		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:20335551G>A	uc002dgv.2	-	3	205	c.122C>T	c.(121-123)TCG>TTG	p.S41L	GP2_uc002dgw.2_Missense_Mutation_p.S41L|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	41						anchored to membrane|extracellular region|plasma membrane				ovary(3)|skin(1)	4						CAGCCCATACGAACTGGCTTC	0.532													A	20335551	G	A	20335551	3	1	152	1	0	0	0	0	1	0	0	0	6582	1059	37	1	1531	1	GP2	16	20335551	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	292162	20335551	70019202	784	82601											
ARHGAP17	55114	broad.mit.edu	37	chr16	24965987	24965987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgggcagcgcaatctcGcgcccgctcctcttcaggtg	11	15	4	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:24965987G>A	uc002dnb.2	-	10	882	c.789C>T	c.(787-789)CGC>CGT	p.R263R	ARHGAP17_uc002dna.2_5'UTR|ARHGAP17_uc002dnc.2_Silent_p.R263R|ARHGAP17_uc010vcf.1_Silent_p.R84R|ARHGAP17_uc002dnf.2_Silent_p.R171R|ARHGAP17_uc002dng.1_3'UTR	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	263	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		GCGCAATCTCGCGCCCGCTCC	0.542													A	24965987	G	A	24965987	2	1	152	1	0	0	0	0	0	0	0	1	867	1074	38	1		1	ARHGAP17	16	24965987	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	4630436	24965987	65388766	785	82602											
GTF3C1	2975	broad.mit.edu	37	chr16	27501011	27501011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcaggctgccctcctcgtCgctgccctggtctgtgctgc	12	17	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:27501011C>T	uc002dov.1	-	20	3245	c.3205G>A	c.(3205-3207)GAC>AAC	p.D1069N	GTF3C1_uc002dou.2_Missense_Mutation_p.D1069N	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1069						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CCCTCCTCGTCGCTGCCCTGG	0.627													T	27501011	C	T	27501011	3	4	152	1	0	0	0	0	1	0	0	0	6872	884	31	1	3196	1	GTF3C1	16	27501011	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	2535024	27501011	62853742	786	82603											
GTF3C1	2975	broad.mit.edu	37	chr16	27506648	27506648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggacggccggacgcctGccctgcctgactcctgcttt	13	15	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:27506648G>A	uc002dov.1	-	15	2556	c.2516C>T	c.(2515-2517)GCA>GTA	p.A839V	GTF3C1_uc002dou.2_Missense_Mutation_p.A839V	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	839						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CCGGACGCCTGCCCTGCCTGA	0.592													A	27506648	G	A	27506648	3	1	152	1	0	0	0	0	1	0	0	0	6872	1319	46	2	3905	2	GTF3C1	16	27506648	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	5637	27506648	62848105	787	82604											
SH2B1	25970	broad.mit.edu	37	chr16	28884771	28884771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaccattcctatccagaacCgaccacctcccatgacccac	3	19	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:28884771C>T	uc002dri.2	+	11	2340	c.1901C>T	c.(1900-1902)CCG>CTG	p.P634L	uc010vct.1_Intron|SH2B1_uc010vdc.1_3'UTR|SH2B1_uc002drj.2_3'UTR|SH2B1_uc002drk.2_Silent_p.T667T|SH2B1_uc002drl.2_Missense_Mutation_p.P634L|SH2B1_uc010vdd.1_Silent_p.T331T|SH2B1_uc010vde.1_Silent_p.T667T|SH2B1_uc002drm.2_Silent_p.T667T	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	634					blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2						TATCCAGAACCGACCACCTCC	0.632													T	28884771	C	T	28884771	3	4	152	1	0	0	0	0	1	0	0	0	14227	652	23	1	2088	1	SH2B1	16	28884771	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1378123	28884771	61469982	788	82605											
ATP2A1	487	broad.mit.edu	37	chr16	28914166	28914166	+	Frame_Shift_Del	DEL	C	C	-													agactgtgaggtcttcgaggCccccgagcccatgaccatgg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:28914165_28914165GC>G	uc002dro.1	+	18	2861	c.2677_2677GC>G	c.(2677-2679)gccfs	p.A893fs	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Frame_Shift_Del_p.A893fs|ATP2A1_uc002drp.1_Frame_Shift_Del_p.A768fs	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	893					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GGTCTTCGAGGCCCCCGAGCC	0.617													-	28914166	C	-	28914166	7	5	152	1	0	1	0	1	0	0	0	0	1136	739	26	0	2752	0	ATP2A1	16	28914166	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	29395	28914166	61440587	789	82606											
SEZ6L2	26470	broad.mit.edu	37	chr16	29891310	29891310	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaggttgccagtgcccctGggcgatactcagggtccgtg	15	11	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:29891310G>T	uc002duq.3	-	9	1688	c.1448C>A	c.(1447-1449)CCA>CAA	p.P483Q	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.P413Q|SEZ6L2_uc002dur.3_Missense_Mutation_p.P413Q|SEZ6L2_uc002dus.3_Missense_Mutation_p.P369Q|SEZ6L2_uc010vec.1_Missense_Mutation_p.P483Q|SEZ6L2_uc010ved.1_Missense_Mutation_p.P439Q	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	483	Sushi 2.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						CAGTGCCCCTGGGCGATACTC	0.597													T	29891310	G	T	29891310	3	4	152	1	0	0	0	0	1	0	0	0	14144	1348	47	5	1363	5	SEZ6L2	16	29891310	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	977144	29891310	60463443	790	82607											
MAPK3	5595	broad.mit.edu	37	chr16	30129770	30129770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggccccgcaggatctggTagaggaagtagcagatatgg	16	7	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:30129770T>C	uc002dws.2	-	3	543	c.443A>G	c.(442-444)TAC>TGC	p.Y148C	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_Missense_Mutation_p.Y34C|MAPK3_uc002dwv.3_Missense_Mutation_p.Y148C|MAPK3_uc002dwt.2_Missense_Mutation_p.Y148C|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_RNA	NM_002746	NP_002737	P27361	MK03_HUMAN	mitogen-activated protein kinase 3 isoform 1	148	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding				0					Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	CAGGATCTGGTAGAGGAAGTA	0.532													C	30129770	T	C	30129770	3	2	152	1	0	0	0	0	1	0	0	0	9279	1638	57	3	777	3	MAPK3	16	30129770	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	238460	30129770	60224983	791	82608											
PRR14	78994	broad.mit.edu	37	chr16	30664413	30664413	+	Frame_Shift_Del	DEL	C	C	-													aagacatcgccagtcctagaCcccccgctgaggtatgggaa							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:30664412_30664412AC>A	uc002dyy.3	+	4	750	c.492_492AC>A	c.(490-492)agafs	p.R164fs	PRR14_uc002dyz.3_Frame_Shift_Del_p.R9fs|PRR14_uc002dza.3_Frame_Shift_Del_p.R164fs|PRR14_uc002dzb.1_5'Flank	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	164	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCAGTCCTAGACCCCCCGCTG	0.612													-	30664413	C	-	30664413	7	5	152	1	0	1	0	1	0	0	0	0	12586	507	18	0	507	0	PRR14	16	30664413	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	534643	30664413	59690340	792	82609											
SRCAP	10847	broad.mit.edu	37	chr16	30724848	30724848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctctttgcagccagagacGcctgctcctgacaggaactc	10	14	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:30724848G>A	uc002dze.1	+	16	2694	c.2309G>A	c.(2308-2310)CGC>CAC	p.R770H	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R627H|SRCAP_uc010bzz.1_Missense_Mutation_p.R340H	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	770	Helicase ATP-binding.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			AGCCAGAGACGCCTGCTCCTG	0.527													A	30724848	G	A	30724848	3	1	152	1	0	0	0	0	1	0	0	0	15134	1087	38	1	2363	1	SRCAP	16	30724848	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	60435	30724848	59629905	793	82610											
RNF40	9810	broad.mit.edu	37	chr16	30783165	30783165	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctactcaggctgtagaagcCgcccagctggccgaggacct	12	15	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:30783165C>T	uc002dzq.2	+	18	2721	c.2598C>T	c.(2596-2598)GCC>GCT	p.A866A	RNF40_uc010caa.2_Silent_p.A866A|RNF40_uc010cab.2_Silent_p.A766A|RNF40_uc010vfa.1_Silent_p.A198A|RNF40_uc002dzr.2_Silent_p.A866A|RNF40_uc010vfb.1_Silent_p.A558A|RNF40_uc010vfc.1_Silent_p.A198A	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	866	Potential.				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)			CTGTAGAAGCCGCCCAGCTGG	0.642													T	30783165	C	T	30783165	2	4	152	1	0	0	0	0	0	0	0	1	13493	639	23	1		1	RNF40	16	30783165	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	58317	30783165	59571588	794	82611											
ZNF646	9726	broad.mit.edu	37	chr16	31088710	31088710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgctgaatggctctgcGgagctcagcacctctgggga	14	11	3	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:31088710G>A	uc002eap.2	+	2	1354	c.1065G>A	c.(1063-1065)GCG>GCA	p.A355A		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						ATGGCTCTGCGGAGCTCAGCA	0.632													A	31088710	G	A	31088710	2	1	152	1	0	0	0	0	0	0	0	1	18059	1103	39	1		1	ZNF646	16	31088710	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	305545	31088710	59266043	795	82612											
ITGAX	3687	broad.mit.edu	37	chr16	31391130	31391130	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcatcaacttctgggtgcCtgtggagctgaaccaggagg	14	10	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:31391130C>A	uc002ebu.1	+	25	2988	c.2921C>A	c.(2920-2922)CCT>CAT	p.P974H	ITGAX_uc002ebt.2_Missense_Mutation_p.P974H	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	974	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TTCTGGGTGCCTGTGGAGCTG	0.597													A	31391130	C	A	31391130	3	1	152	1	0	0	0	0	1	0	0	0	7889	681	24	5	3019	5	ITGAX	16	31391130	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	302420	31391130	58963623	796	82613											
GPT2	84706	broad.mit.edu	37	chr16	46918674	46918674	+	Frame_Shift_Del	DEL	C	C	-													gcggggctgtggtccccggaCccccagctcctggggccgca							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:46918673_46918673AC>A	uc002eel.3	+	1	140	c.46_46AC>A	c.(46-48)accfs	p.T16fs	GPT2_uc002eem.3_5'Flank	NM_133443	NP_001135938	Q8TD30	ALAT2_HUMAN	Homo sapiens glutamic pyruvate transaminase (alanine aminotransferase) 2 (GPT2), transcript variant 1, mRNA.	16					2-oxoglutarate metabolic process|L-alanine metabolic process|cellular amino acid biosynthetic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGGTCCCCGGACCCCCAGCTC	0.716													-	46918674	C	-	46918674	7	5	152	1	0	1	0	1	0	0	0	0	6738	507	18	0	49	0	GPT2	16	46918674	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	15527544	46918674	43436079	797	82614											
TOX3	27324	broad.mit.edu	37	chr16	52497931	52497931	+	Frame_Shift_Del	DEL	G	G	-													aagggaggtccaggctttgaGggggaaactggggtgtgaat							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:52497930_52497930AG>A	uc002egw.2	-	2	495	c.324_324CT>T	c.(322-324)cctfs	p.P108fs	TOX3_uc010vgt.1_Frame_Shift_Del_p.P103fs	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA.	108					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CCAGGCTTTGAGGGGGAAACT	0.522													-	52497931	G	-	52497931	7	5	152	1	0	1	0	1	0	0	0	0	16376	1000	35	0	1427	0	TOX3	16	52497931	Frame_Shift_Del	DEL	G	TCGA-CD-8536-01A-11D-2340-08	5579257	52497931	37856822	798	82615											
IRX6	79190	broad.mit.edu	37	chr16	55362817	55362817	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgattggagcgcagggagtgCggcctggctgcgccccgctt	17	13	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:55362817C>T	uc002ehy.2	+	5	1460	c.927C>T	c.(925-927)TGC>TGT	p.C309C	IRX6_uc002ehx.2_Silent_p.C309C	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	309						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						GCAGGGAGTGCGGCCTGGCTG	0.657													T	55362817	C	T	55362817	2	4	152	1	0	0	0	0	0	0	0	1	7848	776	27	1		1	IRX6	16	55362817	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	2864886	55362817	34991936	799	82616											
NLRC5	84166	broad.mit.edu	37	chr16	57059720	57059720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagccctgaatcggaccacGacactgtcttccagtacctg	9	14	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:57059720G>A	uc002ekk.1	+	6	1090	c.865G>A	c.(865-867)GAC>AAC	p.D289N	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.D94N|NLRC5_uc002ekl.2_Missense_Mutation_p.D94N|NLRC5_uc002ekm.2_Missense_Mutation_p.D94N|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	289	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				ATCGGACCACGACACTGTCTT	0.542													A	57059720	G	A	57059720	3	1	152	1	0	0	0	0	1	0	0	0	10470	1058	37	1	879	1	NLRC5	16	57059720	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1696903	57059720	33295033	800	82617											
GPR114	221188	broad.mit.edu	37	chr16	57609003	57609003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatcttaaactcgctctaCggtagggctggagggcggcc	13	12	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:57609003C>T	uc002elx.3	+	11	1570	c.1485C>T	c.(1483-1485)TAC>TAT	p.Y495Y	GPR114_uc010vhr.1_3'UTR|GPR114_uc002ely.2_Silent_p.Y495Y	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	495	Helical; Name=7; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						ACTCGCTCTACGGTAGGGCTG	0.438													T	57609003	C	T	57609003	2	4	152	1	0	0	0	0	0	0	0	1	6631	550	19	1		1	GPR114	16	57609003	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	549283	57609003	32745750	801	82618											
CNGB1	1258	broad.mit.edu	37	chr16	57994756	57994757	+	Frame_Shift_Ins	INS	-	-	G													ggctcacctcagaggatttgINSgggggctgaggaagcactct							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:57994755_57994756T>TG	uc002emt.2	-	7	587_588	c.522_523A>CA	c.(520-525)cccaaafs	p.P174fs	CNGB1_uc010cdh.2_Frame_Shift_Ins_p.P174fs|CNGB1_uc002emu.2_Frame_Shift_Ins_p.P174fs	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	174	Pro-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.P174L(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TCAGAGGATTTGGGGGGCTGAG	0.634													G	57994757	-	G	57994756	7	5	152	1	0	1	1	0	0	0	0	0	3600	1335	47	0	3367	0	CNGB1	16	57994756	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	385753	57994756	32359997	802	82619											
TEPP	374739	broad.mit.edu	37	chr16	58019124	58019124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcagcggagggtctcagcGgctacgcggtgcggtacttg	17	11	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:58019124G>A	uc002emw.3	+	5	677	c.640G>A	c.(640-642)GGC>AGC	p.G214S	TEPP_uc002emv.3_Missense_Mutation_p.G214S	NM_199456	NP_955535	Q6URK8	TEPP_HUMAN	testis/prostate/placenta-expressed protein	214						extracellular region				kidney(1)|central_nervous_system(1)|skin(1)	3						GGGTCTCAGCGGCTACGCGGT	0.701													A	58019124	G	A	58019124	3	1	152	1	0	0	0	0	1	0	0	0	15757	1116	39	1	658	1	TEPP	16	58019124	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	24368	58019124	32335629	803	82620											
ZNF319	57567	broad.mit.edu	37	chr16	58030956	58030956	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagattggtcaaagcctttcTggcacacggggcacttgaag	12	10	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:58030956T>C	uc002emx.1	-	2	1837	c.1214A>G	c.(1213-1215)CAG>CGG	p.Q405R		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	405	C2H2-type 11; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAAGCCTTTCTGGCACACGGG	0.622													C	58030956	T	C	58030956	3	2	152	1	0	0	0	0	1	0	0	0	17834	1580	55	3	538	3	ZNF319	16	58030956	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	11832	58030956	32323797	804	82621											
C16orf57	79650	broad.mit.edu	37	chr16	58048222	58048222	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagatttacaccaatcaagaGaaaaccaggtgggtcctccc	8	11	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:58048222G>T	uc002emz.2	+	4	578	c.495G>T	c.(493-495)GAG>GAT	p.E165D	C16orf57_uc010vib.1_Intron	NM_024598	NP_078874	Q9BQ65	CP057_HUMAN	hypothetical protein LOC79650	165											0						CCAATCAAGAGAAAACCAGGT	0.378													T	58048222	G	T	58048222	3	4	152	1	0	0	0	0	1	0	0	0	1821	933	33	5	509	5	C16orf57	16	58048222	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	17266	58048222	32306531	805	82622											
CSNK2A2	1459	broad.mit.edu	37	chr16	58200504	58200504	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttactgtcccaggatatcgtTgaagtgtggatctaggtcta	11	7	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:58200504T>C	uc002enc.2	-	9	953	c.811A>G	c.(811-813)AAC>GAC	p.N271D		NM_001896	NP_001887	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	271	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						AGGATATCGTTGAAGTGTGGA	0.423													C	58200504	T	C	58200504	3	2	152	1	0	0	0	0	1	0	0	0	3958	1812	63	3	253	3	CSNK2A2	16	58200504	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	152282	58200504	32154249	806	82623											
CDH11	1009	broad.mit.edu	37	chr16	64981668	64981668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccctgccttcataaccGtagatttgaatggagtcata	9	10	2	2	rs145843219	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:64981668G>A	uc002eoi.2	-	13	2663	c.2229C>T	c.(2227-2229)TAC>TAT	p.Y743Y	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Silent_p.Y617Y	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	743	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTTCATAACCGTAGATTTGAA	0.537			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			A	64981668	G	A	64981668	2	1	152	1	0	0	0	0	0	0	0	1	3097	1140	40	1		1	CDH11	16	64981668	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	6781164	64981668	25373085	807	82624											
CDH5	1003	broad.mit.edu	37	chr16	66436824	66436824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggcacacggagggcccGgggagatggcagccatgatc	18	11	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:66436824G>A	uc002eom.3	+	12	2263	c.2107G>A	c.(2107-2109)GGG>AGG	p.G703R		NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	703	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CGGAGGGCCCGGGGAGATGGC	0.602													A	66436824	G	A	66436824	3	1	152	1	0	0	0	0	1	0	0	0	3113	1116	39	1	2149	1	CDH5	16	66436824	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1455156	66436824	23917929	808	82625											
HSF4	3299	broad.mit.edu	37	chr16	67199720	67199720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgagcttcgtgcgcggccgcGagcagctactggagcgcgtg	17	13	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:67199720G>A	uc002erl.1	+	5	1296	c.331G>A	c.(331-333)GAG>AAG	p.E111K	HSF4_uc002erm.1_Missense_Mutation_p.E111K|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_RNA	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4 isoform b	111	By similarity.				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCGCGGCCGCGAGCAGCTACT	0.687													A	67199720	G	A	67199720	3	1	152	1	0	0	0	0	1	0	0	0	7398	1059	37	1	341	1	HSF4	16	67199720	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	762896	67199720	23155033	809	82626											
RLTPR	146206	broad.mit.edu	37	chr16	67681263	67681263	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcacacctggaggagcTggtgctggagacctgcagcc	14	12	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:67681263T>C	uc002etn.2	+	10	869	c.749T>C	c.(748-750)CTG>CCG	p.L250P	RLTPR_uc010cel.1_Missense_Mutation_p.L250P|RLTPR_uc010vjr.1_Missense_Mutation_p.L250P	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	250	LRR 3.									breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTGGAGGAGCTGGTGCTGGAG	0.637													C	67681263	T	C	67681263	3	2	152	1	0	0	0	0	1	0	0	0	13394	1580	55	3	787	3	RLTPR	16	67681263	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	481543	67681263	22673490	810	82627											
SLC12A4	6560	broad.mit.edu	37	chr16	67981986	67981986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatagtacttgaaccgggGccgccagttgggggtcctca	15	10	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:67981986G>A	uc002euz.2	-	14	1966	c.1825C>T	c.(1825-1827)CCC>TCC	p.P609S	SLC12A4_uc010ceu.2_Missense_Mutation_p.P603S|SLC12A4_uc010vkh.1_Missense_Mutation_p.P578S|SLC12A4_uc010vki.1_Missense_Mutation_p.P609S|SLC12A4_uc010vkj.1_Missense_Mutation_p.P611S|SLC12A4_uc002eva.2_Missense_Mutation_p.P609S|SLC12A4_uc010cev.1_5'Flank|SLC12A4_uc002evb.2_RNA	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	609	Cytoplasmic (Potential).				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTGAACCGGGGCCGCCAGTTG	0.617													A	67981986	G	A	67981986	3	1	152	1	0	0	0	0	1	0	0	0	14385	1203	42	2	1476	2	SLC12A4	16	67981986	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	300723	67981986	22372767	811	82628											
ESRP2	80004	broad.mit.edu	37	chr16	68266678	68266678	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaccaaggccccgtctcGtatttctgctttatcacctc	5	16	4	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:68266678G>A	uc010cfa.1	-	6	884	c.696C>T	c.(694-696)TAC>TAT	p.Y232Y	ESRP2_uc002evp.1_RNA|ESRP2_uc002evq.1_Silent_p.Y232Y	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	RNA binding motif protein 35B	232					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1						GCCCCGTCTCGTATTTCTGCT	0.577													A	68266678	G	A	68266678	2	1	152	1	0	0	0	0	0	0	0	1	5259	1140	40	1		1	ESRP2	16	68266678	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	284692	68266678	22088075	812	82629											
PDPR	55066	broad.mit.edu	37	chr16	70190614	70190614	+	Frame_Shift_Del	DEL	G	G	-													cacaatttttctgaggacacGggggaagagcaagtggtgac							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:70190613_70190613CG>C	uc002eyf.1	+	18	3428	c.2471_2471CG>C	c.(2470-2472)acgfs	p.T824fs	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Frame_Shift_Del_p.T724fs|PDPR_uc002eyg.1_Frame_Shift_Del_p.T491fs|PDPR_uc002eyh.2_Frame_Shift_Del_p.T169fs|PDPR_uc010vls.1_Frame_Shift_Del_p.T169fs|PDPR_uc021tkj.1_5'Flank	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	824					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TCTGAGGACACGGGGGAAGAG	0.557													-	70190614	G	-	70190614	7	5	152	1	0	1	0	1	0	0	0	0	11689	1103	39	0	2538	0	PDPR	16	70190614	Frame_Shift_Del	DEL	G	TCGA-CD-8536-01A-11D-2340-08	1923936	70190614	20164139	813	82630											
SF3B3	23450	broad.mit.edu	37	chr16	70605703	70605703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcgaggatatccggacccGctacgccttctgagccctcc	9	17	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:70605703G>A	uc002ezf.2	+	26	3852	c.3641G>A	c.(3640-3642)CGC>CAC	p.R1214H		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	1214					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				ATCCGGACCCGCTACGCCTTC	0.552													A	70605703	G	A	70605703	3	1	152	1	0	0	0	0	1	0	0	0	14152	1087	38	1	3739	1	SF3B3	16	70605703	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	415089	70605703	19749050	814	82631											
CALB2	794	broad.mit.edu	37	chr16	71411638	71411638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacgtgggctccagcgcCgagtttatggaggtgaggcc	16	11	0	1	rs146835226		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:71411638C>T	uc002faa.3	+	4	400	c.330C>T	c.(328-330)GCC>GCT	p.A110A	CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Silent_p.A110A	NM_001740	NP_001731	P22676	CALB2_HUMAN	calbindin 2 isoform 1	110	EF-hand 3.			A -> T (in Ref. 5; AAH15484).			calcium ion binding				0		Ovarian(137;0.125)				GCTCCAGCGCCGAGTTTATGG	0.567													T	71411638	C	T	71411638	2	4	152	1	0	0	0	0	0	0	0	1	2574	639	23	1		1	CALB2	16	71411638	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	805935	71411638	18943115	815	82632											
PHLPP2	23035	broad.mit.edu	37	chr16	71683913	71683913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtatgtacagcccagcatcCgggtacagcaggttacccca	11	13	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:71683913C>T	uc002fax.2	-	18	2858	c.2852G>A	c.(2851-2853)CGG>CAG	p.R951Q	PHLPP2_uc002fav.2_Intron|PHLPP2_uc010cgf.2_Missense_Mutation_p.R884Q	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	951	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						GCCCAGCATCCGGGTACAGCA	0.483													T	71683913	C	T	71683913	3	4	152	1	0	0	0	0	1	0	0	0	11855	652	23	1	1123	1	PHLPP2	16	71683913	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	272275	71683913	18670840	816	82633											
LDHD	197257	broad.mit.edu	37	chr16	75147447	75147447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaccttgcagcctggccGcgtggccagggctgcgtacc	14	16	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:75147447G>A	uc002fdm.2	-	8	1188	c.1141C>T	c.(1141-1143)CGG>TGG	p.R381W	LDHD_uc002fdn.2_Missense_Mutation_p.R358W	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	D-lactate dehydrogenase isoform 1 precursor	381							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding				0						CAGCCTGGCCGCGTGGCCAGG	0.657													A	75147447	G	A	75147447	3	1	152	1	0	0	0	0	1	0	0	0	8703	1086	38	1	398	1	LDHD	16	75147447	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	3463534	75147447	15207306	817	82634											
GAN	8139	broad.mit.edu	37	chr16	81410860	81410860	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccagaatttatgcatcccCgccagttcctcttttgttta	6	12	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:81410860C>T	uc002fgo.2	+	10	1687	c.1539C>T	c.(1537-1539)CCC>CCT	p.P513P		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	gigaxonin	513	Kelch 5.				cell death	cytoplasm|neurofilament	protein binding			ovary(2)	2		Colorectal(91;0.153)				TATGCATCCCCGCCAGTTCCT	0.388													T	81410860	C	T	81410860	2	4	152	1	0	0	0	0	0	0	0	1	6232	639	23	1		1	GAN	16	81410860	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	6263413	81410860	8943893	818	82635											
KIAA0182	23199	broad.mit.edu	37	chr16	85682290	85682291	+	Frame_Shift_Ins	INS	-	-	C													ggccacagcgtgcccagcacINScccccccgtggtgaccatcg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:85682289_85682290A>AC	uc002fix.3	+	2	432_433	c.358_359A>AC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688													C	85682291	-	C	85682290	7	5	152	1	0	1	1	0	0	0	0	0	8159	507	18	0	369	0	KIAA0182	16	85682290	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	4271430	85682290	4672463	819	82636											
JPH3	57338	broad.mit.edu	37	chr16	87636903	87636903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacggcttcgaggtgctgGgcgtctacacctggcccagc	14	15	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:87636903G>A	uc002fkd.2	+	1	405	c.151G>A	c.(151-153)GGC>AGC	p.G51S	JPH3_uc010vou.1_Intron	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	51	Gly-rich.|Cytoplasmic (Potential).|MORN 2.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CGAGGTGCTGGGCGTCTACAC	0.687													A	87636903	G	A	87636903	3	1	152	1	0	0	0	0	1	0	0	0	7962	1232	43	4	153	4	JPH3	16	87636903	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1954613	87636903	2717850	820	82637											
BANP	54971	broad.mit.edu	37	chr16	88014676	88014676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtagtgacagatgaagaCgaacctgctttgaaacgcca	10	9	0	5			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:88014676C>T	uc002fkr.2	+	3	326	c.102C>T	c.(100-102)GAC>GAT	p.D34D	BANP_uc002fkp.2_Silent_p.D35D|BANP_uc002fkq.2_Silent_p.D35D|BANP_uc010vow.1_Silent_p.D34D|BANP_uc002fks.3_Silent_p.D34D|BANP_uc002fko.1_Translation_Start_Site|BANP_uc010vov.1_Silent_p.D40D	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein isoform b	35					cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CAGATGAAGACGAACCTGCTT	0.353													T	88014676	C	T	88014676	2	4	152	1	0	0	0	0	0	0	0	1	1310	535	19	1		1	BANP	16	88014676	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	377773	88014676	2340077	821	82638											
CDT1	81620	broad.mit.edu	37	chr16	88872202	88872202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctaccgcttccgccaggagCgcagtgtccccaccttcaag	9	18	1	0	rs143284523		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:88872202C>T	uc002flu.2	+	5	811	c.757C>T	c.(757-759)CGC>TGC	p.R253C		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor	253					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CCGCCAGGAGCGCAGTGTCCC	0.627													T	88872202	C	T	88872202	3	4	152	1	0	0	0	0	1	0	0	0	3180	768	27	1	775	1	CDT1	16	88872202	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	857526	88872202	1482551	822	82639											
ACSF3	197322	broad.mit.edu	37	chr16	89211763	89211763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggaggctacaaggtcagCgccctggaggtggagtggca	17	9	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:89211763C>T	uc002fmp.2	+	9	1795	c.1455C>T	c.(1453-1455)AGC>AGT	p.S485S	ACSF3_uc010cig.1_Silent_p.S485S|ACSF3_uc010cih.1_Silent_p.S220S|ACSF3_uc002fmq.1_RNA|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_Silent_p.S220S	NM_174917	NP_777577	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3 precursor	485					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0281)		ACAAGGTCAGCGCCCTGGAGG	0.632													T	89211763	C	T	89211763	2	4	152	1	0	0	0	0	0	0	0	1	176	767	27	1		1	ACSF3	16	89211763	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	339561	89211763	1142990	823	82640											
KIAA0664	23277	broad.mit.edu	37	chr17	2607758	2607758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtctcatctcccgggccGgcctcgtcaagcccattttc	10	16	3	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:2607758G>A	uc002fuy.1	-	2	173	c.87C>T	c.(85-87)GCC>GCT	p.A29A	KIAA0664_uc002fux.1_5'Flank	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	29							binding			breast(2)	2						CTCCCGGGCCGGCCTCGTCAA	0.622													A	2607758	G	A	2607758	2	1	152	1	0	0	0	0	0	0	0	1	8189	1103	39	1		1	KIAA0664	17	2607758	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08		2607758	78587452	824	82641											
OR1E1	8387	broad.mit.edu	37	chr17	3301497	3301497	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacggaagagaagcagaggtCagagaaggacaagttgctga	15	6	1	4			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:3301497C>A	uc002fvj.1	-	1	208	c.208G>T	c.(208-210)GAC>TAC	p.D70Y		NM_003553	NP_003544	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E,	70	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AAGCAGAGGTCAGAGAAGGAC	0.507													A	3301497	C	A	3301497	3	1	152	1	0	0	0	0	1	0	0	0	10954	826	29	5	740	5	OR1E1	17	3301497	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	693739	3301497	77893713	825	82642											
TRPV3	162514	broad.mit.edu	37	chr17	3421945	3421947	+	In_Frame_Del	DEL	GAG	GAG	-													atcagagcaatgagcatgttGaggaggagaacaaaggtgag							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:3421945_3421947delGAG	uc002fvt.1	-	15	2330_2332	c.2008_2010delCTC	c.(2008-2010)CTCdel	p.L670del	TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_In_Frame_Del_p.L654del|TRPV3_uc010vri.1_In_Frame_Del_p.L625del|TRPV3_uc010vrj.1_In_Frame_Del_p.L654del|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_In_Frame_Del_p.L654del|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_In_Frame_Del_p.L670del|TRPV3_uc002fvu.2_In_Frame_Del_p.L670del|TRPV3_uc010vrn.1_3'UTR	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	670	Helical; (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	TGAGCATGTTGAGGAGGAGAACA	0.547													-	3421947	GAG	-	3421945	7	5	152	1	0	1	0	1	0	0	0	0	16594	1277	45	0	378	0	TRPV3	17	3421945	In_Frame_Del	DEL	GAG	TCGA-CD-8536-01A-11D-2340-08	120448	3421945	77773265	826	82643											
SPNS3	201305	broad.mit.edu	37	chr17	4391167	4391167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctactttcgggcgctgGcgcctctacagaggagccct	13	14	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:4391167G>A	uc002fxt.2	+	12	1561	c.1517G>A	c.(1516-1518)GGC>GAC	p.G506D	SPNS3_uc002fxu.2_Missense_Mutation_p.G379D|SPNS3_uc002fxv.2_Missense_Mutation_p.G157D|uc002fxw.1_5'Flank	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3	506					lipid transport|transmembrane transport	integral to membrane				large_intestine(1)	1						TCGGGCGCTGGCGCCTCTACA	0.622													A	4391167	G	A	4391167	3	1	152	1	0	0	0	0	1	0	0	0	15075	1203	42	2	1563	2	SPNS3	17	4391167	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	969222	4391167	76804043	827	82644											
KDM6B	23135	broad.mit.edu	37	chr17	7750590	7750590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgtccccccggaagtgaCcttagagagagcagagttca	11	13	1	4			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:7750590C>T	uc002giw.1	+	10	1453	c.1077C>T	c.(1075-1077)GAC>GAT	p.D359D	KDM6B_uc002gix.2_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	359	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						CCGGAAGTGACCTTAGAGAGA	0.711													T	7750590	C	T	7750590	2	4	152	1	0	0	0	0	0	0	0	1	8138	506	18	4		4	KDM6B	17	7750590	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	3359423	7750590	73444620	828	82645											
CHD3	1107	broad.mit.edu	37	chr17	7798346	7798346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcacatggagtactgccgcGtatgcaaggacggcggggag	16	9	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:7798346G>A	uc002gje.2	+	9	1531	c.1381G>A	c.(1381-1383)GTA>ATA	p.V461I	CHD3_uc002gjd.2_Missense_Mutation_p.V520I|CHD3_uc002gjf.2_Missense_Mutation_p.V461I|CHD3_uc002gjg.1_Missense_Mutation_p.V289I	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	461	PHD-type 2.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				GTACTGCCGCGTATGCAAGGA	0.403													A	7798346	G	A	7798346	3	1	152	1	0	0	0	0	1	0	0	0	3326	1145	40	1	1696	1	CHD3	17	7798346	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	47756	7798346	73396864	829	82646											
GUCY2D	3000	broad.mit.edu	37	chr17	7907409	7907409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtccctctgaaggcagcGtgctggacagcctgcgcagg	14	13	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:7907409G>A	uc002gjt.2	+	3	1035	c.961G>A	c.(961-963)GTG>ATG	p.V321M		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	321	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				TGAAGGCAGCGTGCTGGACAG	0.682													A	7907409	G	A	7907409	3	1	152	1	0	0	0	0	1	0	0	0	6897	1145	40	1	967	1	GUCY2D	17	7907409	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	109063	7907409	73287801	830	82647											
MYH10	4628	broad.mit.edu	37	chr17	8445549	8445549	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtggttgaacagctgcTgcagcttctcattggtgtag	14	7	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:8445549T>A	uc002gll.2	-	13	1547	c.1451A>T	c.(1450-1452)CAG>CTG	p.Q484L	MYH10_uc002glm.2_Missense_Mutation_p.Q494L|MYH10_uc010cnx.2_Missense_Mutation_p.Q493L	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	484	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						GAACAGCTGCTGCAGCTTCTC	0.463													A	8445549	T	A	8445549	3	1	152	1	0	0	0	0	1	0	0	0	10030	1580	55	5	4595	5	MYH10	17	8445549	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	538140	8445549	72749661	831	82648											
MYH8	4626	broad.mit.edu	37	chr17	10300185	10300185	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attagacctttccacatcaaGcatgaggtcttcaacttcat	5	11	4	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:10300185G>T	uc002gmm.2	-	31	4392	c.4297C>A	c.(4297-4299)CTT>ATT	p.L1433I	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1433	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						TCCACATCAAGCATGAGGTCT	0.468									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				T	10300185	G	T	10300185	3	4	152	1	0	0	0	0	1	0	0	0	10041	971	34	5	1556	5	MYH8	17	10300185	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1854636	10300185	70895025	832	82649											
DNAH9	1770	broad.mit.edu	37	chr17	11648225	11648225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcctgatgcgctccttgCgggatttcaacatccccaag	10	13	1	1	rs145963208		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:11648225C>T	uc002gne.2	+	31	6291	c.6223C>T	c.(6223-6225)CGG>TGG	p.R2075W	DNAH9_uc010coo.2_Missense_Mutation_p.R1369W	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2075					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCGCTCCTTGCGGGATTTCAA	0.612													T	11648225	C	T	11648225	3	4	152	1	0	0	0	0	1	0	0	0	4608	759	27	1	6345	1	DNAH9	17	11648225	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1348040	11648225	69546985	833	82650											
ABHD15	116236	broad.mit.edu	37	chr17	27890007	27890007	+	Frame_Shift_Del	DEL	T	T	-													atcccagctgatggggaagcTtttggtgtggcagaagagag							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:27890006_27890006CT>C	uc002hed.2	-	1	1038	c.980_980AG>G	c.(979-981)agcfs	p.S327fs		NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	Homo sapiens abhydrolase domain containing 15 (ABHD15), mRNA.	327						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GATGGGGAAGCTTTTGGTGTG	0.592													-	27890007	T	-	27890007	7	5	152	1	0	1	0	1	0	0	0	0	81	1609	56	0	431	0	ABHD15	17	27890007	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	16241782	27890007	53305203	834	82651											
RAB11FIP4	84440	broad.mit.edu	37	chr17	29857481	29857481	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatagacaccgcctcgcgCgatgaggtaaccacaccacc	10	15	0	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:29857481C>T	uc002hgn.1	+	14	2020	c.1791C>T	c.(1789-1791)CGC>CGT	p.R597R	RAB11FIP4_uc002hgo.2_Silent_p.R495R	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	597	Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.|FIP-RBD.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			skin(1)	1		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CCGCCTCGCGCGATGAGGTAA	0.587													T	29857481	C	T	29857481	2	4	152	1	0	0	0	0	0	0	0	1	12896	755	27	1		1	RAB11FIP4	17	29857481	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1967474	29857481	51337729	835	82652											
SLFN12	55106	broad.mit.edu	37	chr17	33738926	33738926	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaggttttctggagtatAcgttatccttcctgatagcc	9	9	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:33738926A>G	uc002hji.3	-	4	1545	c.1168T>C	c.(1168-1170)TAT>CAT	p.Y390H	SLFN12_uc002hjj.3_Missense_Mutation_p.Y390H|SLFN12_uc010cts.2_Missense_Mutation_p.Y390H	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	schlafen family member 12	390							ATP binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTGGAGTATACGTTATCCTT	0.279													G	33738926	A	G	33738926	3	3	152	1	0	0	0	0	1	0	0	0	14734	391	14	3	572	3	SLFN12	17	33738926	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	3881445	33738926	47456284	836	82653											
SRCIN1	80725	broad.mit.edu	37	chr17	36707581	36707581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgtccttggcactgtaCtgggtcagggctgcccgctt	13	11	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:36707581C>T	uc002hqd.2	-	15	2997	c.2772G>A	c.(2770-2772)CAG>CAA	p.Q924Q	SRCIN1_uc002hqf.1_Silent_p.Q796Q|SRCIN1_uc002hqe.2_Silent_p.Q778Q	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	796					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						TGGCACTGTACTGGGTCAGGG	0.617													T	36707581	C	T	36707581	2	4	152	1	0	0	0	0	0	0	0	1	15135	564	20	4		4	SRCIN1	17	36707581	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	2968655	36707581	44487629	837	82654											
C17orf98	388381	broad.mit.edu	37	chr17	36997562	36997562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctagagcgcccataagcGcgggcagcggtgctcacagc	15	14	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:36997562G>A	uc002hqv.2	-	1	81	c.81C>T	c.(79-81)CGC>CGT	p.R27R		NM_001080465	NP_001073934	A8MV24	CQ098_HUMAN	hypothetical protein LOC388381	27											0						GCCCATAAGCGCGGGCAGCGG	0.637													A	36997562	G	A	36997562	2	1	152	1	0	0	0	0	0	0	0	1	1893	1074	38	1		1	C17orf98	17	36997562	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	289981	36997562	44197648	838	82655											
KRT20	54474	broad.mit.edu	37	chr17	39041120	39041120	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctcggggcgttggtttcGtaccactgcttgatttgcac	12	12	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:39041120G>A	uc002hvl.2	-	1	360	c.318C>T	c.(316-318)TAC>TAT	p.Y106Y		NM_019010	NP_061883	P35900	K1C20_HUMAN	keratin 20	106	Rod.|Linker 1.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			large_intestine(1)|kidney(1)|skin(1)	3		Breast(137;0.000301)|Ovarian(249;0.15)				CGTTGGTTTCGTACCACTGCT	0.502													A	39041120	G	A	39041120	2	1	152	1	0	0	0	0	0	0	0	1	8458	1140	40	1		1	KRT20	17	39041120	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2043558	39041120	42154090	839	82656											
KRTAP4-3	85290	broad.mit.edu	37	chr17	39324352	39324352	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagcagctggggcggcAgcagctctcctggccgagac	16	14	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:39324352A>G	uc010cxl.2	-	1	73	c.73T>C	c.(73-75)TGC>CGC	p.C25R		NM_033187	NP_149443	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	25						keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CTGGGGCGGCAGCAGCTCTCC	0.458													G	39324352	A	G	39324352	3	3	152	1	0	0	0	0	1	0	0	0	8552	188	7	3	518	3	KRTAP4-3	17	39324352	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	283232	39324352	41870858	840	82657											
NAGLU	4669	broad.mit.edu	37	chr17	40695347	40695347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactccaccatggtaggcacGggcatggcccccgagggcat	13	14	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:40695347G>A	uc002hzv.2	+	6	1663	c.1323G>A	c.(1321-1323)ACG>ACA	p.T441T		NM_000263	NP_000254	P54802	ANAG_HUMAN	alpha-N-acetylglucosaminidase precursor	441						lysosome	alpha-N-acetylglucosaminidase activity				0		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	TGGTAGGCACGGGCATGGCCC	0.607													A	40695347	G	A	40695347	2	1	152	1	0	0	0	0	0	0	0	1	10143	1103	39	1		1	NAGLU	17	40695347	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1370995	40695347	40499863	841	82658											
VAT1	10493	broad.mit.edu	37	chr17	41170633	41170633	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccatgtgtaccaagacgcTgtggccaggctgtaggttgc	14	10	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:41170633T>C	uc002icm.1	-	2	691	c.571A>G	c.(571-573)AGC>GGC	p.S191G	VAT1_uc010cyw.1_Missense_Mutation_p.S57G|VAT1_uc010whk.1_Missense_Mutation_p.S123G	NM_006373	NP_006364	Q99536	VAT1_HUMAN	vesicle amine transport protein 1	191						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding				0		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ACCAAGACGCTGTGGCCAGGC	0.557													C	41170633	T	C	41170633	3	2	152	1	0	0	0	0	1	0	0	0	17126	1580	55	3	630	3	VAT1	17	41170633	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	475286	41170633	40024577	842	82659											
EFTUD2	9343	broad.mit.edu	37	chr17	42931922	42931922	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcccatcagttctgctgtAcctcagagggcagagtatca	10	11	4	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:42931922A>G	uc002ihn.2	-	22	2520	c.2259_splice	c.e22+1	p.E753_splice	EFTUD2_uc010wje.1_Splice_Site_p.E718_splice|EFTUD2_uc010wjf.1_Splice_Site_p.E743_splice	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain							Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				GTTCTGCTGTACCTCAGAGGG	0.517													G	42931922	A	G	42931922	5	3	152	1	0	0	0	0	0	0	1	0	4961	405	14	3	685	3	EFTUD2	17	42931922	Splice_Site	SNP	A	TCGA-CD-8536-01A-11D-2340-08	1761289	42931922	38263288	843	82660											
GFAP	2670	broad.mit.edu	37	chr17	42992593	42992593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttttgctgttccaggaagcGaaccttctcgatgtagctgg	12	9	1	0	rs61622935		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:42992593G>A	uc002ihq.2	-	1	322	c.262C>T	c.(262-264)CGC>TGC	p.R88C	GFAP_uc002ihr.2_Missense_Mutation_p.R88C|GFAP_uc010wjg.1_RNA	NM_002055	NP_002046	P14136	GFAP_HUMAN	glial fibrillary acidic protein isoform 1	88	Rod.|Coil 1A.		R -> S (in ALEXD).			cytoplasm|intermediate filament	structural constituent of cytoskeleton			ovary(1)|pancreas(1)	2		Prostate(33;0.0959)				TCCAGGAAGCGAACCTTCTCG	0.612													A	42992593	G	A	42992593	3	1	152	1	0	0	0	0	1	0	0	0	6337	1058	37	1	1201	1	GFAP	17	42992593	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	60671	42992593	38202617	844	82661											
PLEKHM1	9842	broad.mit.edu	37	chr17	43552532	43552532	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtcacaggacatgggcTcctcgcaatggtctggactc	12	12	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:43552532T>C	uc002ija.2	-	4	1027	c.857A>G	c.(856-858)GAG>GGG	p.E286G	PLEKHM1_uc010wjm.1_Missense_Mutation_p.E258G|PLEKHM1_uc002ijb.2_5'UTR|PLEKHM1_uc010wjn.1_Missense_Mutation_p.E235G	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	286					intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)					GGACATGGGCTCCTCGCAATG	0.527													C	43552532	T	C	43552532	3	2	152	1	0	0	0	0	1	0	0	0	12080	1551	54	3	2349	3	PLEKHM1	17	43552532	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	559939	43552532	37642678	845	82662											
WNT9B	7484	broad.mit.edu	37	chr17	44952694	44952694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaaacaaggacctgcggGcacgggcagacgcccacaat	14	12	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:44952694G>A	uc002ikw.1	+	3	599	c.562G>A	c.(562-564)GCA>ACA	p.A188T	WNT9B_uc002ikx.1_Missense_Mutation_p.A188T	NM_003396	NP_003387	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family,	188					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GGACCTGCGGGCACGGGCAGA	0.622													A	44952694	G	A	44952694	3	1	152	1	0	0	0	0	1	0	0	0	17396	1203	42	2	572	2	WNT9B	17	44952694	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1400162	44952694	36242516	846	82663											
HOXB3	3213	broad.mit.edu	37	chr17	46627823	46627823	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggctgggcgccatagggGgcgccccgttgtagtccagg	18	12	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:46627823G>T	uc002inn.2	-	2	1569	c.1169C>A	c.(1168-1170)CCC>CAC	p.P390H	HOXB3_uc010wlm.1_Missense_Mutation_p.P317H|HOXB3_uc010dbf.2_Missense_Mutation_p.P390H|HOXB3_uc010dbg.2_Missense_Mutation_p.P390H|HOXB3_uc002ino.2_Missense_Mutation_p.P390H|HOXB3_uc010wlk.1_Missense_Mutation_p.P258H|HOXB3_uc010wll.1_Missense_Mutation_p.P317H	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	390					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CGCCATAGGGGGCGCCCCGTT	0.672											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	46627823	G	T	46627823	3	4	152	1	0	0	0	0	1	0	0	0	7302	1232	43	5	130	5	HOXB3	17	46627823	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1675129	46627823	34567387	847	82664											
SPOP	8405	broad.mit.edu	37	chr17	47699370	47699370	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaatgacttcacccatttcCtcccggcaaaagctaaagtt	5	12	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:47699370C>A	uc010dbk.2	-	4	770	c.138G>T	c.(136-138)GAG>GAT	p.E46D	SPOP_uc002ipb.2_Missense_Mutation_p.E46D|SPOP_uc002ipc.2_Missense_Mutation_p.E46D|SPOP_uc002ipd.2_Missense_Mutation_p.E46D|SPOP_uc002ipe.2_Missense_Mutation_p.E46D|SPOP_uc002ipf.2_Missense_Mutation_p.E46D|SPOP_uc002ipg.2_Missense_Mutation_p.E46D	NM_003563	NP_003554	O43791	SPOP_HUMAN	speckle-type POZ protein	46	MATH.				mRNA processing	nucleus	protein binding			prostate(2)|ovary(2)|lung(2)	6						CACCCATTTCCTCCCGGCAAA	0.353										Prostate(2;0.17)			A	47699370	C	A	47699370	3	1	152	1	0	0	0	0	1	0	0	0	15083	680	24	5	1018	5	SPOP	17	47699370	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1071547	47699370	33495840	848	82665											
SGCA	6442	broad.mit.edu	37	chr17	48244792	48244792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacacccacttgtgggccGtgtctttgtgcacaccttgg	11	13	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:48244792G>A	uc002iqi.2	+	2	137	c.101G>A	c.(100-102)CGT>CAT	p.R34H	SGCA_uc010wmh.1_Translation_Start_Site|SGCA_uc002iqj.2_Missense_Mutation_p.R34H|SGCA_uc010wmi.1_RNA	NM_000023	NP_000014	Q16586	SGCA_HUMAN	sarcoglycan, alpha isoform 1 precursor	34	Extracellular (Potential).		R -> C (in LGMD2D).|R -> H (in LGMD2D).		muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(2)	2						CTTGTGGGCCGTGTCTTTGTG	0.642													A	48244792	G	A	48244792	3	1	152	1	0	0	0	0	1	0	0	0	14199	1145	40	1	107	1	SGCA	17	48244792	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	545422	48244792	32950418	849	82666											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602													-	48433967	C	-	48433967	7	5	152	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	189175	48433967	32761243	850	82667											
CHAD	1101	broad.mit.edu	37	chr17	48545741	48545741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgaagaggttgaccagcGgggagagcaacccccggggc	17	10	0	5			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:48545741G>A	uc010dbr.2	-	1	487	c.434C>T	c.(433-435)CCG>CTG	p.P145L	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Missense_Mutation_p.P145L|ACSF2_uc010dbt.1_5'UTR	NM_001267	NP_001258	O15335	CHAD_HUMAN	chondroadherin precursor	145	LRR 3.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(2)|central_nervous_system(1)	3	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GTTGACCAGCGGGGAGAGCAA	0.632													A	48545741	G	A	48545741	3	1	152	1	0	0	0	0	1	0	0	0	3310	1116	39	1	657	1	CHAD	17	48545741	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	111774	48545741	32649469	851	82668											
COX11	1353	broad.mit.edu	37	chr17	53040766	53040766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggattcttagctctgtaaaaCgccagtgcagtctctcctgg	10	11	3	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:53040766C>T	uc010wng.1	-	3	606	c.549G>A	c.(547-549)GCG>GCA	p.A183A	COX11_uc010wne.1_RNA|COX11_uc010wnf.1_RNA|COX11_uc002iue.2_RNA|COX11_uc010wnh.1_Silent_p.A183A	NM_004375	NP_004366	Q9Y6N1	COX11_HUMAN	COX11 homolog, cytochrome c oxidase assembly	183	Mitochondrial intermembrane (Potential).|Mitochondrial matrix (Potential).				respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			ovary(1)	1						CTCTGTAAAACGCCAGTGCAG	0.348													T	53040766	C	T	53040766	2	4	152	1	0	0	0	0	0	0	0	1	3763	523	19	1		1	COX11	17	53040766	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	4495025	53040766	28154444	852	82669											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	152	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	3394395	56435161	24760049	853	82670											
TEX14	56155	broad.mit.edu	37	chr17	56676292	56676293	+	Frame_Shift_Ins	INS	-	-	C													actggtgtctggcttctgacINScccctgaaagctgtaggaca							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:56676291_56676292A>AC	uc010dcz.2	-	13	2550_2551	c.2432_2433T>GT	c.(2431-2433)ggtfs	p.G811fs	TEX14_uc002iwr.2_Frame_Shift_Ins_p.G805fs|TEX14_uc002iws.2_Frame_Shift_Ins_p.G805fs|TEX14_uc010dda.2_Frame_Shift_Ins_p.G585fs	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	811						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGGCTTCTGACCCCCTGAAAG	0.475													C	56676293	-	C	56676292	7	5	152	1	0	1	1	0	0	0	0	0	15775	507	18	0	2141	0	TEX14	17	56676292	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	241131	56676292	24518918	854	82671											
TEX14	56155	broad.mit.edu	37	chr17	56693683	56693683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaactgaaaccaaggcataGcctcaaattatggggagaag	10	7	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:56693683G>A	uc010dcz.1	-	7	756	c.638C>T	c.(637-639)GCT>GTT	p.A213V	TEX14_uc002iwr.1_Intron|TEX14_uc002iws.1_Intron|TEX14_uc010dda.1_Intron	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	213						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAAGGCATAGCCTCAAATTA	0.363													A	56693683	G	A	56693683	3	1	152	1	0	0	0	0	1	0	0	0	15775	986	34	2		2	TEX14	17	56693683	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	17391	56693683	24501527	855	82672											
TBX2	6909	broad.mit.edu	37	chr17	59479239	59479240	+	Frame_Shift_Ins	INS	-	-	A													gacagcccagccacgggggaINSgcagtggatggctaagcctg					rs76487118		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:59479238_59479239G>GA	uc010wox.2	+	1	870_871	c.589_590G>GA	c.(589-591)gagfs	p.E197fs	TBX2_uc002ize.3_Frame_Shift_Ins_p.E187fs|TBX2_uc002izg.3_Frame_Shift_Ins_p.E43fs	NM_005994	NP_005985	Q13207	TBX2_HUMAN	Homo sapiens T-box 2 (TBX2), mRNA.	197					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						AGCCACGGGGGAGCAGTGGATG	0.609													A	59479240	-	A	59479239	7	5	152	1	0	1	1	0	0	0	0	0	15652	304	11	0	596	0	TBX2	17	59479239	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	2785556	59479239	21715971	856	82673											
KCNH6	81033	broad.mit.edu	37	chr17	61615495	61615495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtactcgggcaccgcgcGctaccacacgcagatgctgc	11	17	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:61615495G>A	uc002jay.2	+	7	1651	c.1571G>A	c.(1570-1572)CGC>CAC	p.R524H	KCNH6_uc010wpl.1_Missense_Mutation_p.R401H|KCNH6_uc010wpm.1_Missense_Mutation_p.R524H|KCNH6_uc002jaz.1_Missense_Mutation_p.R471H	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	524	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	GGCACCGCGCGCTACCACACG	0.652													A	61615495	G	A	61615495	3	1	152	1	0	0	0	0	1	0	0	0	8036	1087	38	1	1597	1	KCNH6	17	61615495	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2136256	61615495	19579715	857	82674											
KCNH6	81033	broad.mit.edu	37	chr17	61620959	61620960	+	Frame_Shift_Ins	INS	-	-	C													gccgggggtctccactcatcINScccccgacaggctcctggca							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:61620958_61620959T>TC	uc002jay.3	+	9	2250_2251	c.2170_2171T>TC	c.(2170-2172)tccfs	p.S724fs	KCNH6_uc010wpl.2_Frame_Shift_Ins_p.S601fs|KCNH6_uc010wpm.2_Frame_Shift_Ins_p.S724fs|KCNH6_uc002jaz.1_Frame_Shift_Ins_p.S671fs	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	724					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TCTCCACTCATCCCCCCGACAG	0.594													C	61620960	-	C	61620959	7	5	152	1	0	1	1	0	0	0	0	0	8036	855	30	0	2209	0	KCNH6	17	61620959	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	5464	61620959	19574251	858	82675											
ICAM2	3384	broad.mit.edu	37	chr17	62081217	62081217	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccacggaacaggaagagggTgaggctgtccaggggctcca	17	10	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:62081217T>C	uc002jdu.3	-	3	668	c.436A>G	c.(436-438)ACC>GCC	p.T146A	C17orf72_uc002jdt.3_3'UTR|C17orf72_uc010wpu.1_3'UTR|C17orf72_uc010wpv.1_3'UTR|C17orf72_uc010wpw.1_3'UTR|ICAM2_uc002jdw.3_Missense_Mutation_p.T146A|ICAM2_uc010ded.2_Missense_Mutation_p.T146A|ICAM2_uc002jdx.3_Missense_Mutation_p.T146A|ICAM2_uc002jdv.3_Missense_Mutation_p.T146A	NM_000873	NP_000864	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2 precursor	146	Ig-like C2-type 2.|Extracellular (Potential).				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			ovary(1)	1						AGGAAGAGGGTGAGGCTGTCC	0.607													C	62081217	T	C	62081217	3	2	152	1	0	0	0	0	1	0	0	0	7480	1696	59	3	399	3	ICAM2	17	62081217	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	460258	62081217	19113993	859	82676											
AXIN2	8313	broad.mit.edu	37	chr17	63554068	63554068	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcattcaaggtggggagaTagccacacacgacctttagg	11	10	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:63554068T>C	uc002jfi.2	-	2	960	c.671A>G	c.(670-672)TAT>TGT	p.Y224C	AXIN2_uc010den.1_Missense_Mutation_p.Y224C|AXIN2_uc002jfh.2_Missense_Mutation_p.Y224C|AXIN2_uc002jfj.1_Missense_Mutation_p.Y224C	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	224					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						GGTGGGGAGATAGCCACACAC	0.502									Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				C	63554068	T	C	63554068	3	2	152	1	0	0	0	0	1	0	0	0	1237	1406	49	3	1900	3	AXIN2	17	63554068	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	1472851	63554068	17641142	860	82677											
BPTF	2186	broad.mit.edu	37	chr17	65960510	65960510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggttgaagagggtgctccGttccttacaggtgagacccc	15	10	0	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:65960510G>A	uc002jgf.2	+	25	8505	c.8444G>A	c.(8443-8445)CGT>CAT	p.R2815H	BPTF_uc002jge.2_Missense_Mutation_p.R2798H|BPTF_uc002jgg.2_Missense_Mutation_p.R530H|BPTF_uc002jgh.2_Missense_Mutation_p.R332H	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2941					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGGGTGCTCCGTTCCTTACAG	0.458													A	65960510	G	A	65960510	3	1	152	1	0	0	0	0	1	0	0	0	1495	1145	40	1	8928	1	BPTF	17	65960510	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2406442	65960510	15234700	861	82678											
SSTR2	6752	broad.mit.edu	37	chr17	71166190	71166190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggaatccgagtgggctcCtctaagaggaagaagtctga	13	8	3	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:71166190C>T	uc002jje.2	+	2	1092	c.732C>T	c.(730-732)TCC>TCT	p.S244S		NM_001050	NP_001041	P30874	SSR2_HUMAN	somatostatin receptor 2	244	Cytoplasmic (Potential).				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity				0			LUSC - Lung squamous cell carcinoma(166;0.197)			GAGTGGGCTCCTCTAAGAGGA	0.483													T	71166190	C	T	71166190	2	4	152	1	0	0	0	0	0	0	0	1	15197	668	24	4		4	SSTR2	17	71166190	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	5205680	71166190	10029020	862	82679											
CD300C	10871	broad.mit.edu	37	chr17	72541017	72541017	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtgttccttctcatagCgacactgcacactcagggat	8	13	2	0	rs143534670		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:72541017C>G	uc002jky.1	-	2	492	c.131G>C	c.(130-132)CGC>CCC	p.R44P		NM_006678	NP_006669	Q08708	CLM6_HUMAN	CD300C antigen precursor	44	Extracellular (Potential).|Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity				0						CTTCTCATAGCGACACTGCAC	0.532													G	72541017	C	G	72541017	3	3	152	1	0	0	0	0	1	0	0	0	2997	768	27	5	555	5	CD300C	17	72541017	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1374827	72541017	8654193	863	82680											
KIAA0195	9772	broad.mit.edu	37	chr17	73491063	73491063	+	Frame_Shift_Del	DEL	C	C	-													gacatgcctggctccgagatCcccccctccagccccagcca							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:73491062_73491062TC>T	uc010wsa.2	+	18	2897	c.2705_2705TC>T	c.(2704-2706)atcfs	p.I902fs	KIAA0195_uc002jnz.4_Frame_Shift_Del_p.I892fs|KIAA0195_uc010wsb.2_Frame_Shift_Del_p.I532fs|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	892					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCTCCGAGATCCCCCCCTCC	0.612													-	73491063	C	-	73491063	7	5	152	1	0	1	0	1	0	0	0	0	8160	845	30	0	2750	0	KIAA0195	17	73491063	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	950046	73491063	7704147	864	82681											
EVPL	2125	broad.mit.edu	37	chr17	74006132	74006132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttcagcccttccagccGggccgagatgacggcatcct	10	16	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:74006132G>A	uc002jqi.2	-	22	3382	c.3154C>T	c.(3154-3156)CGG>TGG	p.R1052W	EVPL_uc010wss.1_Missense_Mutation_p.R1074W|EVPL_uc010wst.1_Missense_Mutation_p.R522W	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1052	Central fibrous rod domain.|Potential.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	p.R1052W(1)		pancreas(2)|central_nervous_system(1)|skin(1)	4						CCTTCCAGCCGGGCCGAGATG	0.632													A	74006132	G	A	74006132	3	1	152	1	0	0	0	0	1	0	0	0	5292	1115	39	1	2951	1	EVPL	17	74006132	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	515069	74006132	7189078	865	82682											
SRP68	6730	broad.mit.edu	37	chr17	74057235	74057235	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgggtgaaatctcttccAcacgttggttatacagcaca	9	9	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:74057235A>G	uc002jqk.1	-	6	745	c.710T>C	c.(709-711)GTG>GCG	p.V237A	SRP68_uc010wsu.1_Missense_Mutation_p.V136A|SRP68_uc002jql.1_Missense_Mutation_p.V199A	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	237					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						AATCTCTTCCACACGTTGGTT	0.433													G	74057235	A	G	74057235	3	3	152	1	0	0	0	0	1	0	0	0	15155	159	6	3	1217	3	SRP68	17	74057235	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	51103	74057235	7137975	866	82683											
CARD14	79092	broad.mit.edu	37	chr17	78157906	78157906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccacagccgcatgaagCgtgaggttagcgcacacttc	11	13	0	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:78157906C>T	uc002jxw.1	+	4	739	c.544C>T	c.(544-546)CGT>TGT	p.R182C	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.R182C|CARD14_uc010wud.1_RNA	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	182	Potential.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCGCATGAAGCGTGAGGTTAG	0.652													T	78157906	C	T	78157906	3	4	152	1	0	0	0	0	1	0	0	0	2646	768	27	1	554	1	CARD14	17	78157906	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	4100671	78157906	3037304	867	82684											
RNF213	57674	broad.mit.edu	37	chr17	78338261	78338261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtcggattttctccaccGcactcttcgtggagcacgtg	12	12	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:78338261G>A	uc002jyh.1	+	17	6221	c.5998G>A	c.(5998-6000)GCA>ACA	p.A2000T	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.A382T	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTTCTCCACCGCACTCTTCGT	0.592													A	78338261	G	A	78338261	3	1	152	1	0	0	0	0	1	0	0	0	13477	1087	38	1	12260	1	RNF213	17	78338261	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	180355	78338261	2856949	868	82685											
SLC38A10	124565	broad.mit.edu	37	chr17	79246344	79246344	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaggatgccaccaaccatGgttccaaacaccacagagag	8	12	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:79246344G>A	uc002jzz.1	-	9	1371	c.996C>T	c.(994-996)ACC>ACT	p.T332T	SLC38A10_uc002jzy.1_Silent_p.T250T|SLC38A10_uc002kab.2_Silent_p.T332T	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	332	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CACCAACCATGGTTCCAAACA	0.567													A	79246344	G	A	79246344	2	1	152	1	0	0	0	0	0	0	0	1	14602	1335	47	4		4	SLC38A10	17	79246344	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	908083	79246344	1948866	869	82686											
FSCN2	25794	broad.mit.edu	37	chr17	79495836	79495836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgccgcttcctggtcctGccgcagccagatgggcgctg	14	15	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:79495836G>A	uc010wup.1	+	1	420	c.279G>A	c.(277-279)CTG>CTA	p.L93L	FSCN2_uc010wuo.1_Silent_p.L93L	NM_012418	NP_036550	O14926	FSCN2_HUMAN	fascin 2 isoform 1	93					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging				0	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCCTGGTCCTGCCGCAGCCAG	0.711													A	79495836	G	A	79495836	2	1	152	1	0	0	0	0	0	0	0	1	6068	1306	46	2		2	FSCN2	17	79495836	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	249492	79495836	1699374	870	82687											
LRRC45	201255	broad.mit.edu	37	chr17	79985932	79985932	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctctgtcggagcagaaggcCcaggacctgggggagctcct	16	12	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:79985932C>A	uc002kde.2	+	9	1197	c.957C>A	c.(955-957)GCC>GCA	p.A319A		NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	319	Potential.					centrosome				pancreas(1)	1	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AGCAGAAGGCCCAGGACCTGG	0.657													A	79985932	C	A	79985932	2	1	152	1	0	0	0	0	0	0	0	1	9002	610	22	5		5	LRRC45	17	79985932	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	490096	79985932	1209278	871	82688											
CCDC57	284001	broad.mit.edu	37	chr17	80159422	80159422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtggctcacctgtggacGcgctccagctccaggcgatg	14	14	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:80159422G>A	uc002kdz.1	-	3	754	c.399C>T	c.(397-399)CGC>CGT	p.R133R	CCDC57_uc002kdx.1_Silent_p.R133R	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	133	Potential.									ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			ACCTGTGGACGCGCTCCAGCT	0.682													A	80159422	G	A	80159422	2	1	152	1	0	0	0	0	0	0	0	1	2827	1074	38	1		1	CCDC57	17	80159422	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	173490	80159422	1035788	872	82689											
SLC16A3	9123	broad.mit.edu	37	chr17	80196837	80196837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggaggtggttcacaccccGgaaacaagtgtctgagtggc	16	9	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:80196837G>A	uc002kea.2	+	5	1522	c.1383G>A	c.(1381-1383)CCG>CCA	p.P461P	SLC16A3_uc002kee.2_Intron|SLC16A3_uc002keb.2_Silent_p.P461P|SLC16A3_uc002kec.2_Silent_p.P461P|SLC16A3_uc002ked.2_Silent_p.P461P	NM_001042422	NP_001035887	O15427	MOT4_HUMAN	solute carrier family 16, member 3	461	Cytoplasmic (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			upper_aerodigestive_tract(1)|lung(1)	2	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	TTCACACCCCGGAAACAAGTG	0.587													A	80196837	G	A	80196837	2	1	152	1	0	0	0	0	0	0	0	1	14409	1103	39	1		1	SLC16A3	17	80196837	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	37415	80196837	998373	873	82690											
TMEM200C	645369	broad.mit.edu	37	chr18	5891602	5891602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtagccagagaagatgCggaagaagaagcccacggac	15	9	0	4			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:5891602C>T	uc002kmx.1	-	1	502	c.461G>A	c.(460-462)CGC>CAC	p.R154H		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	transmembrane protein 200C	154						integral to membrane					0						AGAGAAGATGCGGAAGAAGAA	0.642													T	5891602	C	T	5891602	3	4	152	1	0	0	0	0	1	0	0	0	16122	768	27	1	1408	1	TMEM200C	18	5891602	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08		5891602	72185646	874	82691											
PTPRM	5797	broad.mit.edu	37	chr18	8380326	8380326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcagcttttatagtcacCcagcatcctttgccaaacac	4	15	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:8380326C>T	uc002knn.3	+	27	4283	c.3780C>T	c.(3778-3780)ACC>ACT	p.T1260T	PTPRM_uc010dkv.2_Silent_p.T1273T|PTPRM_uc010wzl.1_Silent_p.T1047T	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1260	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				TTATAGTCACCCAGCATCCTT	0.423													T	8380326	C	T	8380326	2	4	152	1	0	0	0	0	0	0	0	1	12806	610	22	4		4	PTPRM	18	8380326	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	2488724	8380326	69696922	875	82692											
LAMA3	3909	broad.mit.edu	37	chr18	21474921	21474921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgacctggccaccatgggcGagcagctccgcctggtcaag	13	15	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:21474921G>A	uc002kuq.2	+	44	5598	c.5512G>A	c.(5512-5514)GAG>AAG	p.E1838K	LAMA3_uc002kur.2_Missense_Mutation_p.E1838K|LAMA3_uc002kus.3_Missense_Mutation_p.E229K|LAMA3_uc002kut.3_Missense_Mutation_p.E229K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1838	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCATGGGCGAGCAGCTCCG	0.622													A	21474921	G	A	21474921	3	1	152	1	0	0	0	0	1	0	0	0	8607	1059	37	1	5861	1	LAMA3	18	21474921	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	13094595	21474921	56602327	876	82693											
DSC2	1824	broad.mit.edu	37	chr18	28659851	28659851	+	Frame_Shift_Del	DEL	T	T	-													ctgtaatattatatatgccaTttttgatggtctctgcctct							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:28659850_28659850AT>A	uc002kwl.4	-	10	2080	c.1626_1626AT>T	c.(1624-1626)aatfs	p.N542fs	DSC2_uc002kwk.4_Frame_Shift_Del_p.N542fs	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	542	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TATATATGCCATTTTTGATGG	0.383													-	28659851	T	-	28659851	7	5	152	1	0	1	0	1	0	0	0	0	4766	1493	52	0	1144	0	DSC2	18	28659851	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	7184930	28659851	49417397	877	82694											
MOCOS	55034	broad.mit.edu	37	chr18	33828912	33828912	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctatagaggtgcctcttgAggaaaatagtgaacggactc	12	8	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:33828912A>C	uc002kzq.3	+	10	2011	c.1988A>C	c.(1987-1989)GAG>GCG	p.E663A		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	663					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	GTGCCTCTTGAGGAAAATAGT	0.373													C	33828912	A	C	33828912	3	2	152	1	0	0	0	0	1	0	0	0	9689	304	11	5	2026	5	MOCOS	18	33828912	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	5169061	33828912	44248336	878	82695											
CELF4	56853	broad.mit.edu	37	chr18	34853000	34853000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggttggggtcataggtgCggccgccaggccattcatgt	16	9	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:34853000C>T	uc002lae.2	-	7	1324	c.928G>A	c.(928-930)GCA>ACA	p.A310T	CELF4_uc010dnd.1_Missense_Mutation_p.A308T|CELF4_uc002lag.2_Missense_Mutation_p.A300T|CELF4_uc002laf.2_Missense_Mutation_p.A305T|CELF4_uc002lai.2_Missense_Mutation_p.A295T|CELF4_uc002lah.1_Missense_Mutation_p.A35T|CELF4_uc002laj.1_Missense_Mutation_p.R145H	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	310	Ala-rich.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						GTCATAGGTGCGGCCGCCAGG	0.657													T	34853000	C	T	34853000	3	4	152	1	0	0	0	0	1	0	0	0	3218	768	27	1	556	1	CELF4	18	34853000	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1024088	34853000	43224248	879	82696											
SLC14A1	6563	broad.mit.edu	37	chr18	43311018	43311018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcattgactggattctcCggggcatatcccaagtggtg	12	9	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:43311018C>T	uc010xcn.1	+	5	509	c.190C>T	c.(190-192)CGG>TGG	p.R64W	SLC14A1_uc010dnk.2_Missense_Mutation_p.R120W|SLC14A1_uc002lbf.3_Missense_Mutation_p.R64W|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_5'UTR|SLC14A1_uc002lbh.3_Intron|SLC14A1_uc002lbi.3_Intron|SLC14A1_uc002lbj.3_Missense_Mutation_p.R120W|SLC14A1_uc002lbk.3_Missense_Mutation_p.R64W	NM_001146036	NP_001139508	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter),	64	Helical; (Potential).			R -> Q (in Ref. 8; ACV91713).		integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|pancreas(1)	2						CTGGATTCTCCGGGGCATATC	0.527													T	43311018	C	T	43311018	3	4	152	1	0	0	0	0	1	0	0	0	14396	643	23	1	368	1	SLC14A1	18	43311018	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	8458018	43311018	34766230	880	82697											
MBD1	4152	broad.mit.edu	37	chr18	47802077	47802077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgggtctgacagccccGgcatactccacaccctcggc	9	18	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:47802077G>A	uc010dow.1	-	8	1122	c.685C>T	c.(685-687)CGG>TGG	p.R229W	MBD1_uc002lef.2_Missense_Mutation_p.R11W|MBD1_uc002leg.2_Missense_Mutation_p.R180W|MBD1_uc010xdi.1_Missense_Mutation_p.R255W|MBD1_uc002leh.3_Missense_Mutation_p.R229W|MBD1_uc002len.2_Missense_Mutation_p.R229W|MBD1_uc002lei.3_Missense_Mutation_p.R229W|MBD1_uc002lej.3_Missense_Mutation_p.R229W|MBD1_uc002lek.3_Missense_Mutation_p.R180W|MBD1_uc002lel.3_Missense_Mutation_p.R229W|MBD1_uc002lem.3_Missense_Mutation_p.R229W|MBD1_uc010xdj.1_Missense_Mutation_p.R229W|MBD1_uc010xdk.1_Missense_Mutation_p.R229W|MBD1_uc010dox.1_Missense_Mutation_p.R229W|MBD1_uc002leo.2_Missense_Mutation_p.R229W	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	229	CXXC-type 2.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						TGACAGCCCCGGCATACTCCA	0.667													A	47802077	G	A	47802077	3	1	152	1	0	0	0	0	1	0	0	0	9342	1115	39	1	1362	1	MBD1	18	47802077	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	4491059	47802077	30275171	881	82698											
DCC	1630	broad.mit.edu	37	chr18	51053099	51053099	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcccctgaagtgtctgaggaGagccacaaaccaacagagga	12	11	1	4			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:51053099G>T	uc002lfe.1	+	28	4811	c.4224G>T	c.(4222-4224)GAG>GAT	p.E1408D	DCC_uc010dpf.1_Missense_Mutation_p.E1041D	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1408	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTCTGAGGAGAGCCACAAAC	0.478													T	51053099	G	T	51053099	3	4	152	1	0	0	0	0	1	0	0	0	4282	933	33	5	4334	5	DCC	18	51053099	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	3251022	51053099	27024149	882	82699											
ZCCHC2	54877	broad.mit.edu	37	chr18	60243776	60243776	+	Frame_Shift_Del	DEL	C	C	-													ctgagatacgcacctcccctCcccccttctaatgatacgtt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:60243775_60243775TC>T	uc002lip.4	+	13	3500	c.3500_3500TC>T	c.(3499-3501)ctcfs	p.L1167fs	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Frame_Shift_Del_p.L637fs	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	1167					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCACCTCCCCTCCCCCCTTCT	0.483													-	60243776	C	-	60243776	7	5	152	1	0	1	0	1	0	0	0	0	17584	842	30	0	3555	0	ZCCHC2	18	60243776	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	9190677	60243776	17833472	883	82700											
RTTN	25914	broad.mit.edu	37	chr18	67795744	67795744	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactatggagtaaggactcAcagcatggtgtccaattaca	9	8	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:67795744A>G	uc002lkp.2	-	24	3061	c.2993T>C	c.(2992-2994)GTG>GCG	p.V998A	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.V86A	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	998							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				GTAAGGACTCACAGCATGGTG	0.378													G	67795744	A	G	67795744	3	3	152	1	0	0	0	0	1	0	0	0	13737	159	6	3	3791	3	RTTN	18	67795744	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	7551968	67795744	10281504	884	82701											
TSHZ1	10194	broad.mit.edu	37	chr18	72999592	72999592	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccggagccttccttcatcAacccgctgagcgctttgcag	9	16	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:72999592A>G	uc002lly.2	+	2	2658	c.2095A>G	c.(2095-2097)AAC>GAC	p.N699D		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	744						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TTCCTTCATCAACCCGCTGAG	0.572													G	72999592	A	G	72999592	3	3	152	1	0	0	0	0	1	0	0	0	16620	130	5	3	2097	3	TSHZ1	18	72999592	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	5203848	72999592	5077656	885	82702											
ADNP2	22850	broad.mit.edu	37	chr18	77896426	77896426	+	Frame_Shift_Del	DEL	A	A	-													agattttagcattagatcctAaaaaatatgaaggccgttct							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:77896425_77896425TA>T	uc002lnw.3	+	3	3584	c.3129_3129TA>T	c.(3127-3129)cctfs	p.P1043fs		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	1043					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CATTAGATCCTAAAAAATATG	0.353													-	77896426	A	-	77896426	7	5	152	1	0	1	0	1	0	0	0	0	324	363	13	0	3140	0	ADNP2	18	77896426	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	4896834	77896426	180822	886	82703											
ODF3L2	284451	broad.mit.edu	37	chr19	463926	463926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggcccgtttcgagtggCggatgcccatagagaacgct	14	11	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:463926C>T	uc002lor.2	-	4	1024	c.788G>A	c.(787-789)CGC>CAC	p.R263H	SHC2_uc002loq.3_5'Flank|ODF3L2_uc010drp.2_Missense_Mutation_p.R227H	NM_182577	NP_872383	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	263	DUF1309 3.										0						TTTCGAGTGGCGGATGCCCAT	0.682													T	463926	C	T	463926	3	4	152	1	0	0	0	0	1	0	0	0	10832	768	27	1	85	1	ODF3L2	19	463926	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08		463926	58665057	887	82704											
POLRMT	5442	broad.mit.edu	37	chr19	620437	620437	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttcgccacctccatacaGcaggccagcgtctgccaggg	12	16	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:620437G>A	uc002lpf.1	-	11	2747	c.2691C>T	c.(2689-2691)TGC>TGT	p.C897C		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	897	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCATACAGCAGGCCAGCG	0.711													A	620437	G	A	620437	2	1	152	1	0	0	0	0	0	0	0	1	12238	963	34	2		2	POLRMT	19	620437	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	156511	620437	58508546	888	82705											
FGF22	27006	broad.mit.edu	37	chr19	643536	643536	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgctggacaggaggggggggCcccggccaggcggccggacg	22	13	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:643536C>G	uc010xfq.1	+	3	445	c.445C>G	c.(445-447)CCC>GCC	p.P149A	FGF22_uc010xfr.1_Missense_Mutation_p.A141G	NM_020637	NP_065688	Q9HCT0	FGF22_HUMAN	fibroblast growth factor 22 precursor	149					cell differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular space	growth factor activity				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAggggggggccccggccagg	0.577													G	643536	C	G	643536	3	3	152	1	0	0	0	0	1	0	0	0	5851	739	26	5	455	5	FGF22	19	643536	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	23099	643536	58485447	889	82706											
ELANE	1991	broad.mit.edu	37	chr19	855757	855757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgtcgcagcaacgtctGcactctcgtgaggggccggc	14	15	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:855757G>A	uc002lqb.2	+	4	598	c.560G>A	c.(559-561)TGC>TAC	p.C187Y		NM_001972	NP_001963	P08246	ELNE_HUMAN	neutrophil elastase preproprotein	187	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			pancreas(1)	1					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	AGCAACGTCTGCACTCTCGTG	0.682									Kostmann_syndrome				A	855757	G	A	855757	3	1	152	1	0	0	0	0	1	0	0	0	5048	1319	46	2	574	2	ELANE	19	855757	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	212221	855757	58273226	890	82707											
HMHA1	23526	broad.mit.edu	37	chr19	1074149	1074149	+	Frame_Shift_Del	DEL	G	G	-													gtgctgctacagcgctgtgaGgggggcgtggatgccgcact							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:1074148_1074148AG>A	uc002lqz.1	+	6	1067	c.836_836AG>A	c.(835-837)gagfs	p.E279fs	HMHA1_uc010xgd.1_Frame_Shift_Del_p.E295fs|HMHA1_uc010xge.1_Frame_Shift_Del_p.E119fs|HMHA1_uc002lra.1_Frame_Shift_Del_p.E119fs|HMHA1_uc002lrb.1_Frame_Shift_Del_p.E162fs	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	279					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCGCTGTGAGGGGGGCGTG	0.667													-	1074149	G	-	1074149	7	5	152	1	0	1	0	1	0	0	0	0	7240	991	35	0	863	0	HMHA1	19	1074149	Frame_Shift_Del	DEL	G	TCGA-CD-8536-01A-11D-2340-08	218392	1074149	58054834	891	82708											
ATP8B3	148229	broad.mit.edu	37	chr19	1791787	1791787	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacccatattttgatgttgCtcttcttgagacatttgatg	8	8	2	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:1791787C>A	uc002ltw.2	-	20	2498	c.2264G>T	c.(2263-2265)AGC>ATC	p.S755I	ATP8B3_uc002ltv.2_Missense_Mutation_p.S718I|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	755	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTGATGTTGCTCTTCTTGAG	0.607													A	1791787	C	A	1791787	3	1	152	1	0	0	0	0	1	0	0	0	1196	797	28	5	1678	5	ATP8B3	19	1791787	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	717638	1791787	57337196	892	82709											
REXO1	57455	broad.mit.edu	37	chr19	1816782	1816782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtcgaccaccgtgacgcGcgtcagctccaggccatatg	12	15	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:1816782G>A	uc002lua.3	-	13	3327	c.3232C>T	c.(3232-3234)CGC>TGC	p.R1078C	REXO1_uc010dsq.2_Missense_Mutation_p.R387C|REXO1_uc010xgs.1_Missense_Mutation_p.R64C|MIR1909_hsa-mir-1909|MI0008330_5'Flank|REXO1_uc010dsp.1_RNA	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	1078	Exonuclease.					nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGTGACGCGCGTCAGCTCC	0.622													A	1816782	G	A	1816782	3	1	152	1	0	0	0	0	1	0	0	0	13241	1087	38	1	449	1	REXO1	19	1816782	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	24995	1816782	57312201	893	82710											
ADAT3	113179	broad.mit.edu	37	chr19	1912907	1912907	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgtaaactggacgcagaCgaggacggcctcccctacct	12	14	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:1912907C>T	uc002luh.2	+	2	1041	c.813C>T	c.(811-813)GAC>GAT	p.D271D	SCAMP4_uc002lui.1_Intron|SCAMP4_uc002luj.2_Intron|SCAMP4_uc002luk.2_Intron|SCAMP4_uc010dss.2_Intron	NM_138422	NP_612431	Q96EY9	ADAT3_HUMAN	tRNA-specific adenosine deaminase 3	271					tRNA processing		hydrolase activity|zinc ion binding			breast(1)|skin(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACGCAGACGAGGACGGCC	0.711													T	1912907	C	T	1912907	2	4	152	1	0	0	0	0	0	0	0	1	286	535	19	1		1	ADAT3	19	1912907	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	96125	1912907	57216076	894	82711											
LINGO3	645191	broad.mit.edu	37	chr19	2290756	2290756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtctctagcgtgttcacCgagtggaaggtgctctcctc	12	12	3	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:2290756C>T	uc010dsx.1	-	2	1148	c.1020G>A	c.(1018-1020)TCG>TCA	p.S340S	SPPL2B_uc010dsw.1_Intron|uc002lvo.1_5'UTR	NM_001101391	NP_001094861	P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	340	Extracellular (Potential).|LRR 11.					integral to membrane					0						GCGTGTTCACCGAGTGGAAGG	0.647													T	2290756	C	T	2290756	2	4	152	1	0	0	0	0	0	0	0	1	8816	639	23	1		1	LINGO3	19	2290756	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	377849	2290756	56838227	895	82712											
ZNF554	115196	broad.mit.edu	37	chr19	2834223	2834223	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttgagtgccaccagtgtggGaaggtgttcaaccggaggca	15	8	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:2834223G>T	uc002lwm.2	+	5	1188	c.990G>T	c.(988-990)GGG>GGT	p.G330G	ZNF554_uc002lwl.2_Silent_p.G279G	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	330	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAGTGTGGGAAGGTGTTCA	0.502													T	2834223	G	T	2834223	2	4	152	1	0	0	0	0	0	0	0	1	17982	1161	41	5		5	ZNF554	19	2834223	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	543467	2834223	56294760	896	82713											
ZNF556	80032	broad.mit.edu	37	chr19	2877513	2877513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgggaaagccttcagtcGcccttcctacctacagacgc	9	14	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:2877513G>A	uc002lwp.1	+	4	644	c.557G>A	c.(556-558)CGC>CAC	p.R186H	ZNF556_uc002lwq.2_Missense_Mutation_p.R185H	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	186	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTTCAGTCGCCCTTCCTAC	0.453													A	2877513	G	A	2877513	3	1	152	1	0	0	0	0	1	0	0	0	17984	1087	38	1	571	1	ZNF556	19	2877513	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	43290	2877513	56251470	897	82714											
TBXA2R	6915	broad.mit.edu	37	chr19	3600327	3600327	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatgaagcgacagagacgGcagccagggtccacggcgtg	15	13	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:3600327G>A	uc002lyg.1	-	2	520	c.306C>T	c.(304-306)TGC>TGT	p.C102C	TBXA2R_uc002lye.1_Silent_p.C102C	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	102	Extracellular (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GACAGAGACGGCAGCCAGGGT	0.672													A	3600327	G	A	3600327	2	1	152	1	0	0	0	0	0	0	0	1	15660	1195	42	2		2	TBXA2R	19	3600327	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	722814	3600327	55528656	898	82715											
MATK	4145	broad.mit.edu	37	chr19	3778397	3778397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcggtaccccttctccacGgcctccgacacctctttcag	7	18	3	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:3778397G>A	uc002lyt.2	-	14	1708	c.1308C>T	c.(1306-1308)GCC>GCT	p.A436A	MATK_uc002lyv.2_Silent_p.A437A|MATK_uc002lyu.2_Silent_p.A395A|MATK_uc010dtq.2_Silent_p.A435A	NM_139355	NP_647612	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase isoform	436	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTCTCCACGGCCTCCGACA	0.706													A	3778397	G	A	3778397	2	1	152	1	0	0	0	0	0	0	0	1	9332	1103	39	1		1	MATK	19	3778397	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	178070	3778397	55350586	899	82716											
MAP2K2	5605	broad.mit.edu	37	chr19	4117626	4117627	+	Splice_Site	INS	-	-	C													tgcaggtccaccaggtttgcINScctgcagagaccccccaggg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:4117625_4117626G>GC	uc002lzk.3	-	2	347	c.93_splice	c.e2-1	p.E31_splice		NM_030662	NP_109587	P36507	MP2K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 2 (MAP2K2), mRNA.	31					ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCAGGTTTGCCCTGCAGAGA	0.604													C	4117627	-	C	4117626	8	5	152	1	0	1	1	0	0	0	1	0	9237	753	26	0	1148	0	MAP2K2	19	4117626	Splice_Site	INS	-	TCGA-CD-8536-01A-11D-2340-08	339229	4117626	55011357	900	82717											
MPND	84954	broad.mit.edu	37	chr19	4357372	4357372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggactaccagctgcggctGcagggctccagcaatggctt	13	12	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:4357372G>A	uc002mae.2	+	9	1186	c.1119G>A	c.(1117-1119)CTG>CTA	p.L373L	MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Silent_p.L323L|MPND_uc002maf.2_Silent_p.L373L|MPND_uc002mah.2_Silent_p.L261L|MPND_uc002mai.2_Silent_p.L232L	NM_032868	NP_116257	Q8N594	MPND_HUMAN	MPN domain containing isoform 1	373	MPN.						peptidase activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGCGGCTGCAGGGCTCCA	0.692													A	4357372	G	A	4357372	2	1	152	1	0	0	0	0	0	0	0	1	9731	1306	46	2		2	MPND	19	4357372	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	239746	4357372	54771611	901	82718											
PLIN4	729359	broad.mit.edu	37	chr19	4512043	4512043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacagcccccttggccacGttcacggcactggtgacccc	10	18	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:4512043G>A	uc002mar.1	-	3	1887	c.1887C>T	c.(1885-1887)AAC>AAT	p.N629N	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	629	27 X 33 AA approximate tandem repeat.|17.					lipid particle|plasma membrane					0						CCTTGGCCACGTTCACGGCAC	0.552													A	4512043	G	A	4512043	2	1	152	1	0	0	0	0	0	0	0	1	12092	1136	40	1		1	PLIN4	19	4512043	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	154671	4512043	54616940	902	82719											
ZNRF4	148066	broad.mit.edu	37	chr19	5455890	5455890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggcccccgagggcataCggggctacctgatggaggtc	15	14	0	1	rs61740899	by1000genomes	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:5455890C>T	uc002mca.3	+	1	465	c.388C>T	c.(388-390)CGG>TGG	p.R130W		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	130	Extracellular (Potential).|PA.					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CGAGGGCATACGGGGCTACCT	0.687													T	5455890	C	T	5455890	3	4	152	1	0	0	0	0	1	0	0	0	18211	527	19	1	390	1	ZNRF4	19	5455890	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	943847	5455890	53673093	903	82720											
LONP1	9361	broad.mit.edu	37	chr19	5692122	5692122	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccggtagtgttccacgaagTgcacctccaggccctcggtg	12	15	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:5692122T>C	uc002mcx.2	-	18	2834	c.2801A>G	c.(2800-2802)CAC>CGC	p.H934R	LONP1_uc002mcy.2_Missense_Mutation_p.H870R|LONP1_uc010duh.2_Missense_Mutation_p.H675R|LONP1_uc010dui.2_Missense_Mutation_p.H918R|LONP1_uc002mcz.2_Missense_Mutation_p.H738R	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	934					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						TTCCACGAAGTGCACCTCCAG	0.652													C	5692122	T	C	5692122	3	2	152	1	0	0	0	0	1	0	0	0	8892	1696	59	3	82	3	LONP1	19	5692122	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	236232	5692122	53436861	904	82721											
SLC25A23	79085	broad.mit.edu	37	chr19	6454640	6454640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcacctgccactgcgccgGccaccagctgtttccaccac	9	20	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:6454640G>A	uc002mex.1	-	5	714	c.572C>T	c.(571-573)GCC>GTC	p.A191V	SLC25A23_uc002mev.2_RNA|SLC25A23_uc010xjd.1_Missense_Mutation_p.A8V	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	solute carrier family 25, member 23	191	Solcar 1.|Helical; Name=1; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)|pancreas(1)	2						CACTGCGCCGGCCACCAGCTG	0.622													A	6454640	G	A	6454640	3	1	152	1	0	0	0	0	1	0	0	0	14486	1203	42	2	858	2	SLC25A23	19	6454640	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	762518	6454640	52674343	905	82722											
TUBB4	10382	broad.mit.edu	37	chr19	6495958	6495958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgcacagacagcgtggcGttgtagggctccaccaccgt	14	12	0	1	rs1053263		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:6495958G>A	uc002mfg.1	-	4	659	c.552C>T	c.(550-552)AAC>AAT	p.N184N	TUBB4_uc002mff.1_Silent_p.N112N|MIR220B_hsa-mir-220b|MI0005529_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	184					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		ACAGCGTGGCGTTGTAGGGCT	0.567													A	6495958	G	A	6495958	2	1	152	1	0	0	0	0	0	0	0	1	16755	1136	40	1		1	TUBB4	19	6495958	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	41318	6495958	52633025	906	82723											
SH2D3A	10045	broad.mit.edu	37	chr19	6760878	6760878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggggacgcagggccacacGgaacacctcaaaatggaggg	15	12	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:6760878G>A	uc002mft.2	-	3	384	c.190C>T	c.(190-192)CGT>TGT	p.R64C	SH2D3A_uc010xjg.1_Intron	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	64	SH2.				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(2)	2						AGGGCCACACGGAACACCTCA	0.627													A	6760878	G	A	6760878	3	1	152	1	0	0	0	0	1	0	0	0	14233	1116	39	1	1572	1	SH2D3A	19	6760878	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	264920	6760878	52368105	907	82724											
ZNF358	140467	broad.mit.edu	37	chr19	7584517	7584517	+	Frame_Shift_Del	DEL	C	C	-													ctcctctggcctcactgccaCcccccaggtcttggccacca							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:7584516_7584516AC>A	uc002mgn.2	+	1	558	c.388_388AC>A	c.(388-390)accfs	p.T130fs	ZNF358_uc021unu.1_Frame_Shift_Del_p.T130fs|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	130					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CCTCACTGCCACCCCCCAGGT	0.697													-	7584517	C	-	7584517	7	5	152	1	0	1	0	1	0	0	0	0	17864	507	18	0	391	0	ZNF358	19	7584517	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	823639	7584517	51544466	908	82725											
XAB2	56949	broad.mit.edu	37	chr19	7690852	7690852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaagcgggtgaggccccCgcggatgatggcgtccacat	17	11	0	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:7690852C>T	uc002mgx.2	-	6	762	c.736G>A	c.(736-738)GGG>AGG	p.G246R		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	246	HAT 7.				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						GTGAGGCCCCCGCGGATGATG	0.627								Direct_reversal_of_damage|NER					T	7690852	C	T	7690852	3	4	152	1	0	0	0	0	1	0	0	0	17415	652	23	1	1887	1	XAB2	19	7690852	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	106335	7690852	51438131	909	82726											
CD209	30835	broad.mit.edu	37	chr19	7810926	7810926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaggttctggtagatcgCgtcttgcctggattgttcct	13	9	3	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:7810926C>T	uc002mht.2	-	4	293	c.226G>A	c.(226-228)GCG>ACG	p.A76T	CD209_uc010xju.1_Missense_Mutation_p.A76T|CD209_uc010dvp.2_Missense_Mutation_p.A52T|CD209_uc002mhr.2_Missense_Mutation_p.A52T|CD209_uc002mhs.2_Missense_Mutation_p.A52T|CD209_uc002mhu.2_Missense_Mutation_p.A76T|CD209_uc010dvq.2_Missense_Mutation_p.A76T|CD209_uc002mhq.2_Missense_Mutation_p.A76T|CD209_uc002mhv.2_Missense_Mutation_p.A52T|CD209_uc002mhx.2_Missense_Mutation_p.A32T|CD209_uc002mhw.2_Missense_Mutation_p.A32T|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	CD209 molecule isoform 1	76	Extracellular (Probable).				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			skin(1)	1						TGGTAGATCGCGTCTTGCCTG	0.458													T	7810926	C	T	7810926	3	4	152	1	0	0	0	0	1	0	0	0	2984	768	27	1	1004	1	CD209	19	7810926	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	120074	7810926	51318057	910	82727											
PRAM1	84106	broad.mit.edu	37	chr19	8555241	8555241	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagaagtcgacatcatcGtacacctccgtctccctggc	8	17	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:8555241G>A	uc002mkd.2	-	9	1976	c.1956C>T	c.(1954-1956)TAC>TAT	p.Y652Y	PRAM1_uc002mkc.2_Silent_p.Y651Y	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	700							lipid binding|protein binding				0						CGACATCATCGTACACCTCCG	0.662													A	8555241	G	A	8555241	2	1	152	1	0	0	0	0	0	0	0	1	12423	1140	40	1		1	PRAM1	19	8555241	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	744315	8555241	50573742	911	82728											
MUC16	94025	broad.mit.edu	37	chr19	9060440	9060440	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggtctcccttggtgtGggggtcagggtggatgttga	19	6	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:9060440G>T	uc002mkp.2	-	3	27210	c.27006C>A	c.(27004-27006)CCC>CCA	p.P9002P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9004	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCCTTGGTGTGGGGGTCAGGG	0.502													T	9060440	G	T	9060440	2	4	152	1	0	0	0	0	0	0	0	1	9973	1335	47	5		5	MUC16	19	9060440	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	505199	9060440	50068543	912	82729											
MUC16	94025	broad.mit.edu	37	chr19	9062779	9062779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtttctacccagttggGtgttgttgatatgtccacag	13	7	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:9062779G>A	uc002mkp.2	-	3	24871	c.24667C>T	c.(24667-24669)CCC>TCC	p.P8223S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8225	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ACCCAGTTGGGTGTTGTTGAT	0.458													A	9062779	G	A	9062779	3	1	152	1	0	0	0	0	1	0	0	0	9973	1261	44	4	19184	4	MUC16	19	9062779	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2339	9062779	50066204	913	82730											
MUC16	94025	broad.mit.edu	37	chr19	9064310	9064310	+	Frame_Shift_Del	DEL	G	G	-													gaagtcacaggaaggggagaGggggggatatgtgctaggaa							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:9064309_9064309AG>A	uc002mkp.3	-	2	23341	c.23137_23137CT>T	c.(23137-23139)tctfs	p.S7713fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7715	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATA	0.527													-	9064310	G	-	9064310	7	5	152	1	0	1	0	1	0	0	0	0	9973	987	35	0	20715	0	MUC16	19	9064310	Frame_Shift_Del	DEL	G	TCGA-CD-8536-01A-11D-2340-08	1531	9064310	50064673	914	82731											
OLFM2	93145	broad.mit.edu	37	chr19	9965340	9965340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctctgcaccagcacagagCgcgagcggaagtggtatttg	13	11	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:9965340C>T	uc002mmp.2	-	6	915	c.887G>A	c.(886-888)CGC>CAC	p.R296H	OLFM2_uc002mmo.2_Missense_Mutation_p.R218H	NM_058164	NP_477512	O95897	NOE2_HUMAN	olfactomedin 2 precursor	296	Olfactomedin-like.					extracellular region				large_intestine(1)|skin(1)	2						CAGCACAGAGCGCGAGCGGAA	0.622													T	9965340	C	T	9965340	3	4	152	1	0	0	0	0	1	0	0	0	10853	768	27	1	481	1	OLFM2	19	9965340	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	901030	9965340	49163643	915	82732											
ANGPTL6	83854	broad.mit.edu	37	chr19	10203374	10203374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggcttcggtagtggccgCcgtggtgccacacaccgttg	15	13	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:10203374C>T	uc002mmx.1	-	6	1422	c.1304G>A	c.(1303-1305)GGC>GAC	p.G435D	C19orf66_uc002mmu.3_3'UTR|C19orf66_uc002mmv.3_3'UTR|C19orf66_uc002mmw.3_3'UTR|ANGPTL6_uc002mmy.1_Missense_Mutation_p.G435D	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6 precursor	435	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding				0			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			GTAGTGGCCGCCGTGGTGCCA	0.617													T	10203374	C	T	10203374	3	4	152	1	0	0	0	0	1	0	0	0	618	739	26	2	112	2	ANGPTL6	19	10203374	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	238034	10203374	48925609	916	82733											
S1PR2	9294	broad.mit.edu	37	chr19	10334939	10334939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtggcttgagcggaccaCgcagtagatgcgcacgtaca	14	11	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:10334939C>T	uc002mnl.2	-	2	754	c.643G>A	c.(643-645)GTG>ATG	p.V215M		NM_004230	NP_004221	O95136	S1PR2_HUMAN	endothelial differentiation, sphingolipid	215	Cytoplasmic (By similarity).				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			lung(1)|central_nervous_system(1)	2						GAGCGGACCACGCAGTAGATG	0.602													T	10334939	C	T	10334939	3	4	152	1	0	0	0	0	1	0	0	0	13794	536	19	1	422	1	S1PR2	19	10334939	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	131565	10334939	48794044	917	82734											
TYK2	7297	broad.mit.edu	37	chr19	10489041	10489041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgggctccatccccaacGggcttactgcccctggccat	11	17	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:10489041G>A	uc002moc.3	-	3	420	c.42C>T	c.(40-42)CCC>CCT	p.P14P	TYK2_uc010dxe.2_Intron|TYK2_uc002mod.2_Silent_p.P14P	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	14					intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CATCCCCAACGGGCTTACTGC	0.662													A	10489041	G	A	10489041	2	1	152	1	0	0	0	0	0	0	0	1	16807	1103	39	1		1	TYK2	19	10489041	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	154102	10489041	48639942	918	82735											
KEAP1	9817	broad.mit.edu	37	chr19	10602832	10602832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtacttgacccagttgatgCaggcgtggaagacctcggac	13	11	0	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:10602832C>T	uc002moq.1	-	3	902	c.746G>A	c.(745-747)TGC>TAC	p.C249Y	KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.C249Y	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	249	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCAGTTGATGCAGGCGTGGAA	0.617													T	10602832	C	T	10602832	3	4	152	1	0	0	0	0	1	0	0	0	8141	710	25	2	1144	2	KEAP1	19	10602832	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	113791	10602832	48526151	919	82736											
SMARCA4	6597	broad.mit.edu	37	chr19	11135028	11135028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagtacgtcatcaagtgcGacatgtctgcgctgcagcga	13	10	3	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:11135028G>A	uc002mqf.3	+	21	3279	c.2995G>A	c.(2995-2997)GAC>AAC	p.D999N	SMARCA4_uc010dxp.2_Missense_Mutation_p.D999N|SMARCA4_uc010dxo.2_Missense_Mutation_p.D999N|SMARCA4_uc002mqg.1_Missense_Mutation_p.D999N|SMARCA4_uc010dxq.2_Missense_Mutation_p.D999N|SMARCA4_uc010dxr.2_Missense_Mutation_p.D999N|SMARCA4_uc002mqj.3_Missense_Mutation_p.D999N|SMARCA4_uc010dxs.2_Missense_Mutation_p.D999N|SMARCA4_uc010dxt.1_Missense_Mutation_p.D219N|SMARCA4_uc002mqh.3_Missense_Mutation_p.D122N|SMARCA4_uc002mqi.1_Missense_Mutation_p.D202N	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	999					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CATCAAGTGCGACATGTCTGC	0.617			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				A	11135028	G	A	11135028	3	1	152	1	0	0	0	0	1	0	0	0	14770	1058	37	1	3073	1	SMARCA4	19	11135028	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	532196	11135028	47993955	920	82737											
LDLR	3949	broad.mit.edu	37	chr19	11233946	11233946	+	Frame_Shift_Del	DEL	T	T	-													gcacacaaccacccgacctgTtcccgacacctcccggctgc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:11233945_11233945GT>G	uc002mqk.4	+	14	2423	c.2236_2236GT>G	c.(2236-2238)gttfs	p.V746fs	LDLR_uc010xlk.2_Frame_Shift_Del_p.V746fs|LDLR_uc010xll.2_Frame_Shift_Del_p.V705fs|LDLR_uc021upc.1_Frame_Shift_Del_p.V625fs|LDLR_uc010xln.2_Frame_Shift_Del_p.V568fs|LDLR_uc010xlo.2_Frame_Shift_Del_p.V578fs|LDLR_uc010xlm.2_Frame_Shift_Del_p.V599fs|LDLR_uc021upd.1_Frame_Shift_Del_p.V483fs	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	746	Clustered O-linked oligosaccharides.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CACCCGACCTGTTCCCGACAC	0.622													-	11233946	T	-	11233946	7	5	152	1	0	1	0	1	0	0	0	0	8704	1725	60	0	2295	0	LDLR	19	11233946	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	98918	11233946	47895037	921	82738											
LPPR2	64748	broad.mit.edu	37	chr19	11472075	11472075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactgaccagggtgcctgcGctggcagtcccagcctcgtg	13	15	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:11472075G>A	uc002mre.1	+	6	911	c.574G>A	c.(574-576)GCT>ACT	p.A192T	LPPR2_uc002mrf.1_Missense_Mutation_p.A167T|LPPR2_uc010dxy.1_5'UTR	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN	lipid phosphate phosphatase-related protein type	192						integral to membrane	phosphatidate phosphatase activity			large_intestine(1)	1						GGGTGCCTGCGCTGGCAGTCC	0.711													A	11472075	G	A	11472075	3	1	152	1	0	0	0	0	1	0	0	0	8925	1087	38	1	588	1	LPPR2	19	11472075	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	238129	11472075	47656908	922	82739											
LPPR2	64748	broad.mit.edu	37	chr19	11475043	11475043	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcgcagaactgcgcccgcCgtggccacctgatccccagc	11	18	0	2	rs143779658		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:11475043C>T	uc002mre.1	+	10	1357	c.1020C>T	c.(1018-1020)GCC>GCT	p.A340A	LPPR2_uc002mrf.1_Missense_Mutation_p.R321C|LPPR2_uc010dxy.1_Missense_Mutation_p.R153C	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN	lipid phosphate phosphatase-related protein type	340						integral to membrane	phosphatidate phosphatase activity			large_intestine(1)	1						CTGCGCCCGCCGTGGCCACCT	0.632													T	11475043	C	T	11475043	2	4	152	1	0	0	0	0	0	0	0	1	8925	652	23	1		1	LPPR2	19	11475043	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	2968	11475043	47653940	923	82740											
ZNF490	57474	broad.mit.edu	37	chr19	12692113	12692113	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagagcagtgagatatctgAatgccttcccacattcctta	8	10	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:12692113A>G	uc002mtz.2	-	5	905	c.776T>C	c.(775-777)TTC>TCC	p.F259S		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	259	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAGATATCTGAATGCCTTCCC	0.408													G	12692113	A	G	12692113	3	3	152	1	0	0	0	0	1	0	0	0	17938	246	9	3	817	3	ZNF490	19	12692113	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	1217070	12692113	46436870	924	82741											
BEST2	54831	broad.mit.edu	37	chr19	12866521	12866521	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttacaaagaccacgacctAgacctgtgtgtgcccatctt	9	12	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:12866521A>G	uc002mux.2	+	6	807	c.807A>G	c.(805-807)CTA>CTG	p.L269L		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	vitelliform macular dystrophy 2-like 1	269	Extracellular (Potential).				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			ovary(1)|pancreas(1)	2						ACCACGACCTAGACCTGTGTG	0.587													G	12866521	A	G	12866521	2	3	152	1	0	0	0	0	0	0	0	1	1405	407	15	3		3	BEST2	19	12866521	Silent	SNP	A	TCGA-CD-8536-01A-11D-2340-08	174408	12866521	46262462	925	82742											
CACNA1A	773	broad.mit.edu	37	chr19	13409876	13409876	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagcgggcctgtttcctgagGaagtcctcggcgcgctgctg	15	12	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:13409876G>A	uc010dze.2	-	19	2810	c.2574C>T	c.(2572-2574)TTC>TTT	p.F858F	CACNA1A_uc010dzc.2_Silent_p.F383F|CACNA1A_uc002mwy.3_Silent_p.F857F|CACNA1A_uc010xne.1_Silent_p.F386F	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	858	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTTTCCTGAGGAAGTCCTCGG	0.726													A	13409876	G	A	13409876	2	1	152	1	0	0	0	0	0	0	0	1	2538	1165	41	4		4	CACNA1A	19	13409876	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	543355	13409876	45719107	926	82743											
ZSWIM4	65249	broad.mit.edu	37	chr19	13941470	13941470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcagccactccctgggccGgcacgagctctctgccatcg	10	18	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:13941470G>A	uc002mxh.1	+	13	2765	c.2576G>A	c.(2575-2577)CGG>CAG	p.R859Q	ZSWIM4_uc010xng.1_Missense_Mutation_p.R782Q	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	859							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TCCCTGGGCCGGCACGAGCTC	0.652													A	13941470	G	A	13941470	3	1	152	1	0	0	0	0	1	0	0	0	18240	1116	39	1	2626	1	ZSWIM4	19	13941470	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	531594	13941470	45187513	927	82744											
CC2D1A	54862	broad.mit.edu	37	chr19	14020696	14020696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccctgaggacggggctaacGatgaagaactggaggctgag	16	8	0	4			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:14020696G>A	uc002mxo.2	+	2	420	c.121G>A	c.(121-123)GAT>AAT	p.D41N	CC2D1A_uc002mxn.2_5'UTR|CC2D1A_uc002mxp.2_Missense_Mutation_p.D41N	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	41					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CGGGGCTAACGATGAAGAACT	0.577													A	14020696	G	A	14020696	3	1	152	1	0	0	0	0	1	0	0	0	2726	1058	37	1	127	1	CC2D1A	19	14020696	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	79226	14020696	45108287	928	82745											
CYP4F22	126410	broad.mit.edu	37	chr19	15648459	15648459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagatcttcaaccagagcGctgacattatgcatgtgagt	10	8	2	5			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:15648459G>A	uc002nbh.3	+	6	702	c.535G>A	c.(535-537)GCT>ACT	p.A179T		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	179						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2						CAACCAGAGCGCTGACATTAT	0.547													A	15648459	G	A	15648459	3	1	152	1	0	0	0	0	1	0	0	0	4189	1087	38	1	549	1	CYP4F22	19	15648459	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1627763	15648459	43480524	929	82746											
CHERP	10523	broad.mit.edu	37	chr19	16630060	16630060	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taggggtcatccagagccacGcccacgcctttatactggtc	10	14	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:16630060G>C	uc002nei.1	-	17	2735	c.2661C>G	c.(2659-2661)GGC>GGG	p.G887G	MED26_uc002nee.2_RNA|C19orf44_uc002neh.1_Intron|C19orf44_uc010eai.1_Intron|CHERP_uc010xpg.1_Silent_p.G426G	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	887	G-patch.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						CCAGAGCCACGCCCACGCCTT	0.622													C	16630060	G	C	16630060	2	2	152	1	0	0	0	0	0	0	0	1	3336	1074	38	5		5	CHERP	19	16630060	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	981601	16630060	42498923	930	82747											
SIN3B	23309	broad.mit.edu	37	chr19	16963880	16963880	+	Splice_Site	DEL	A	A	-													catagaatttctccccacagAaaaaaatgaaacttcgtggt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:16963879_16963879GA>G	uc002ney.2	+	7	873	c.850_splice	c.e7-1	p.K284_splice	SIN3B_uc002new.3_Splice_Site_p.K284_splice|SIN3B_uc002nez.2_Splice_Site_p.K284_splice	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	284	Interaction with NCOR1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCTCCCCACAGAAAAAAATGA	0.507													-	16963880	A	-	16963880	8	5	152	1	0	1	0	1	0	0	1	0	14326	260	9	0	876	0	SIN3B	19	16963880	Splice_Site	DEL	A	TCGA-CD-8536-01A-11D-2340-08	333820	16963880	42165103	931	82748											
HAUS8	93323	broad.mit.edu	37	chr19	17160887	17160887	+	Frame_Shift_Del	DEL	G	G	-													tgattgaaataccaccggctGgggggcgccatgccctgggt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:17160886_17160886TG>T	uc002nfe.3	-	10	1141	c.1030_1030CA>A	c.(1030-1032)agcfs	p.S344fs	HAUS8_uc002nff.3_Frame_Shift_Del_p.S343fs	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 8 (HAUS8), transcript variant 1, mRNA.	344					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						TACCACCGGCTGGGGGGCGCC	0.612													-	17160887	G	-	17160887	7	5	152	1	0	1	0	1	0	0	0	0	6972	1335	47	0	207	0	HAUS8	19	17160887	Frame_Shift_Del	DEL	G	TCGA-CD-8536-01A-11D-2340-08	197007	17160887	41968096	932	82749											
FAM125A	93343	broad.mit.edu	37	chr19	17534870	17534870	+	Frame_Shift_Del	DEL	C	C	-													tttgagggcaagagctgcagCcccctggtgagtcggggtct							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:17534869_17534869GC>G	uc002ngo.1	+	6	728	c.695_695GC>G	c.(694-696)agcfs	p.S232fs	FAM125A_uc002ngq.1_Frame_Shift_Del_p.S128fs	NM_138401	NP_612410	Q96EY5	F125A_HUMAN	Homo sapiens family with sequence similarity 125, member A (FAM125A), mRNA.	232	Interaction with TSG101, VPS37B and VPS28.|UMA.				protein transport	late endosome membrane|microtubule organizing center|nucleus	SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	8						AAGAGCTGCAGCCCCCTGGTG	0.622													-	17534870	C	-	17534870	7	5	152	1	0	1	0	1	0	0	0	0	5427	738	26	0	722	0	FAM125A	19	17534870	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	373983	17534870	41594113	933	82750											
GATAD2A	54815	broad.mit.edu	37	chr19	19606916	19606917	+	Frame_Shift_Ins	INS	-	-	C													ccaccgcccctcctcctggcINScccccgggcgtcggtgccca							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:19606915_19606916G>GC	uc010xqt.2	+	6	1123_1124	c.811_812G>GC	c.(811-813)gccfs	p.A271fs	GATAD2A_uc010xqu.2_Intron|GATAD2A_uc010xqv.2_Frame_Shift_Ins_p.A290fs|GATAD2A_uc010xqw.2_Frame_Shift_Ins_p.A98fs	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	Homo sapiens GATA zinc finger domain containing 2A (GATAD2A), mRNA.	271					DNA methylation|negative regulation of transcription, DNA-dependent	NuRD complex|nuclear speck	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CCTCCTCCTGGCCCCCCGGGCG	0.604													C	19606917	-	C	19606916	7	5	152	1	0	1	1	0	0	0	0	0	6260	739	26	0	834	0	GATAD2A	19	19606916	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	2072046	19606916	39522067	934	82751											
ZNF43	7594	broad.mit.edu	37	chr19	22002026	22002026	+	Splice_Site	DEL	A	A	-													cataaatgtcaatggtccctAaaaaaaacaacacatacaca							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383													-	22002026	A	-	22002026	8	5	152	1	0	1	0	1	0	0	1	0	17900	377	13	0		0	ZNF43	19	22002026	Splice_Site	DEL	A	TCGA-CD-8536-01A-11D-2340-08	2395110	22002026	37126957	935	82752											
ZNF492	57615	broad.mit.edu	37	chr19	22846755	22846755	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgagtgtaaggtgcacaAagaatgttacaatggactta	12	4	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:22846755A>G	uc002nqw.3	+	4	528	c.284A>G	c.(283-285)AAA>AGA	p.K95R		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AAGGTGCACAAAGAATGTTAC	0.299													G	22846755	A	G	22846755	3	3	152	1	0	0	0	0	1	0	0	0	17940	14	1	3	294	3	ZNF492	19	22846755	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	844729	22846755	36282228	936	82753											
ZNF675	171392	broad.mit.edu	37	chr19	23836066	23836066	+	Frame_Shift_Del	DEL	T	T	-													tagtttctctccagtatgtaTttttttatgtttagtaaggt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:23836065_23836065AT>A	uc002nri.3	-	3	1852	c.1670_1670AT>T	c.(1669-1671)atafs	p.I557fs		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	Homo sapiens zinc finger protein 675 (ZNF675), mRNA.	557					I-kappaB kinase/NF-kappaB cascade|bone resorption|cytokine-mediated signaling pathway|hemopoiesis|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TCCAGTATGTATTTTTTTATG	0.303													-	23836066	T	-	23836066	7	5	152	1	0	1	0	1	0	0	0	0	18079	1493	52	0	41	0	ZNF675	19	23836066	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	989311	23836066	35292917	937	82754											
ZNF507	22847	broad.mit.edu	37	chr19	32845353	32845353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagatagtacattggcagcGtactcaaaaatgatgtcgcc	10	8	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:32845353G>A	uc002nte.2	+	3	1889	c.1617G>A	c.(1615-1617)GCG>GCA	p.A539A	ZNF507_uc002ntc.2_Silent_p.A539A|ZNF507_uc010xrn.1_Silent_p.A539A|ZNF507_uc002ntd.2_Silent_p.A539A	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(110;0.162)					CATTGGCAGCGTACTCAAAAA	0.448													A	32845353	G	A	32845353	2	1	152	1	0	0	0	0	0	0	0	1	17950	1132	40	1		1	ZNF507	19	32845353	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	9009287	32845353	26283630	938	82755											
ANKRD27	84079	broad.mit.edu	37	chr19	33119673	33119673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagaagcagagagggtgaCacatcttttggacggtatct	13	8	2	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:33119673C>T	uc002ntn.1	-	14	1448	c.1292G>A	c.(1291-1293)TGT>TAT	p.C431Y		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	431					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)					GAGAGGGTGACACATCTTTTG	0.393													T	33119673	C	T	33119673	3	4	152	1	0	0	0	0	1	0	0	0	655	478	17	4	1924	4	ANKRD27	19	33119673	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	274320	33119673	26009310	939	82756											
C19orf40	91442	broad.mit.edu	37	chr19	33464114	33464114	+	Frame_Shift_Del	DEL	C	C	-													agaccatccatggaaaagaaCccccctgatgatacgggccc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:33464113_33464113AC>A	uc002nud.4	+	1	129	c.11_11AC>A	c.(10-12)aacfs	p.N4fs	CEP89_uc002nty.3_5'Flank|CEP89_uc010edg.3_5'Flank|CEP89_uc002nua.3_5'Flank|CEP89_uc002nuc.1_5'Flank	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Homo sapiens chromosome 19 open reading frame 40 (C19orf40), mRNA.	4					DNA repair	Fanconi anaemia nuclear complex	DNA binding|chromatin binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					ATGGAAAAGAACCCCCCTGAT	0.612								Direct reversal of damage					-	33464114	C	-	33464114	7	5	152	1	0	1	0	1	0	0	0	0	1923	506	18	0	14	0	C19orf40	19	33464114	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	344441	33464114	25664869	940	82757											
SLC7A10	56301	broad.mit.edu	37	chr19	33703303	33703303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtgtcccacggagggcGtcatccagaaagcaaaggca	13	12	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:33703303G>A	uc002num.2	-	5	830	c.683C>T	c.(682-684)ACG>ATG	p.T228M	SLC7A10_uc002nul.2_5'Flank|SLC7A10_uc010xrq.1_Missense_Mutation_p.T201M	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	solute carrier family 7, member 10	228					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(110;0.137)					CACGGAGGGCGTCATCCAGAA	0.627													A	33703303	G	A	33703303	3	1	152	1	0	0	0	0	1	0	0	0	14693	1145	40	1	916	1	SLC7A10	19	33703303	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	239189	33703303	25425680	941	82758											
ZNF599	148103	broad.mit.edu	37	chr19	35250403	35250403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgttgaattaaggaagagcTgtcacaaaaggccttcccac	9	9	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:35250403T>C	uc010edn.1	-	4	1691	c.1303A>G	c.(1303-1305)AGC>GGC	p.S435G	ZNF599_uc010edm.1_Missense_Mutation_p.S398G	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	zinc finger protein 599	435	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAGGAAGAGCTGTCACAAAAG	0.448													C	35250403	T	C	35250403	3	2	152	1	0	0	0	0	1	0	0	0	18026	1580	55	3	467	3	ZNF599	19	35250403	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	1547100	35250403	23878580	942	82759											
FFAR1	2864	broad.mit.edu	37	chr19	35842792	35842792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagcagccttccccttggGctaccaagccttccggaggc	13	15	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:35842792G>A	uc002nzc.2	+	1	348	c.338G>A	c.(337-339)GGC>GAC	p.G113D		NM_005303	NP_005294	O14842	FFAR1_HUMAN	free fatty acid receptor 1	113	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)	1	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	TTCCCCTTGGGCTACCAAGCC	0.677													A	35842792	G	A	35842792	3	1	152	1	0	0	0	0	1	0	0	0	5827	1203	42	2	340	2	FFAR1	19	35842792	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	592389	35842792	23286191	943	82760											
MLL2	8085	broad.mit.edu	37	chr19	36210764	36210764	+	Frame_Shift_Del	DEL	C	C	-													cctagcagatgtggctcctaCccccccaaagacccctgccc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:36210763_36210763AC>A	uc021usv.1	+	2	514	c.514_514AC>A	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAA	0.637			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	36210764	C	-	36210764	7	5	152	1	0	1	0	1	0	0	0	0	9621	507	18	0		0	MLL2	19	36210764	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	367972	36210764	22918219	944	82761											
MLL4	9757	broad.mit.edu	37	chr19	36214083	36214083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcgatgtggacactgtcGgggctgcctacgtgtgcagg	17	10	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:36214083G>A	uc010eei.2	+	6	2909	c.2909G>A	c.(2908-2910)CGG>CAG	p.R970Q		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	970	CXXC-type.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGACACTGTCGGGGCTGCCTA	0.612													A	36214083	G	A	36214083	3	1	152	1	0	0	0	0	1	0	0	0	9623	1116	39	1	2931	1	MLL4	19	36214083	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	3319	36214083	22914900	945	82762											
LRFN3	79414	broad.mit.edu	37	chr19	36430505	36430505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaccctcgctggaccgcCgggcagccgagctgcggctg	15	17	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:36430505C>T	uc002oco.2	+	2	630	c.178C>T	c.(178-180)CGG>TGG	p.R60W		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	60	LRR 1.|Extracellular (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCTGGACCGCCGGGCAGCCGA	0.701													T	36430505	C	T	36430505	3	4	152	1	0	0	0	0	1	0	0	0	8939	643	23	1	180	1	LRFN3	19	36430505	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	216422	36430505	22698478	946	82763											
CLIP3	25999	broad.mit.edu	37	chr19	36517912	36517912	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtcatgtcggtcagcccGtcacgatcgttcacatggca	11	12	4	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:36517912G>A	uc010eeq.1	-	3	624	c.342C>T	c.(340-342)GAC>GAT	p.D114D	uc002ocy.2_Intron|CLIP3_uc002ocz.1_Silent_p.D114D	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	114					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGGTCAGCCCGTCACGATCGT	0.632													A	36517912	G	A	36517912	2	1	152	1	0	0	0	0	0	0	0	1	3534	1136	40	1		1	CLIP3	19	36517912	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	87407	36517912	22611071	947	82764											
ZNF420	147923	broad.mit.edu	37	chr19	37619816	37619816	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaattcatactggtgagaaAccatatcaatgtaaggaatg	9	5	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:37619816A>G	uc002ofl.2	+	5	2138	c.1923A>G	c.(1921-1923)AAA>AAG	p.K641K		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	641					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGGTGAGAAACCATATCAAT	0.403													G	37619816	A	G	37619816	2	3	152	1	0	0	0	0	0	0	0	1	17894	40	2	3		3	ZNF420	19	37619816	Silent	SNP	A	TCGA-CD-8536-01A-11D-2340-08	1101904	37619816	21509167	948	82765											
ZNF540	163255	broad.mit.edu	37	chr19	38103001	38103001	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaaaaccctatatgtgtAagaaatgtgataagggtttt	9	3	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:38103001A>G	uc002ogq.2	+	5	1152	c.820A>G	c.(820-822)AAG>GAG	p.K274E	ZNF540_uc002ogu.2_Missense_Mutation_p.K274E|ZNF540_uc010efq.2_Missense_Mutation_p.K242E	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	274	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTATATGTGTAAGAAATGTGA	0.318													G	38103001	A	G	38103001	3	3	152	1	0	0	0	0	1	0	0	0	17972	363	13	3	834	3	ZNF540	19	38103001	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	483185	38103001	21025982	949	82766											
RYR1	6261	broad.mit.edu	37	chr19	38958451	38958451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgtcttcaatgggcaccGcgtgggtacctccctgggca	12	13	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:38958451G>A	uc002oit.2	+	25	3510	c.3380G>A	c.(3379-3381)CGC>CAC	p.R1127H	RYR1_uc002oiu.2_Missense_Mutation_p.R1127H	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1127	6 X approximate repeats.|Cytoplasmic.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AATGGGCACCGCGTGGGTACC	0.637													A	38958451	G	A	38958451	3	1	152	1	0	0	0	0	1	0	0	0	13768	1101	38	1	3478	1	RYR1	19	38958451	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	855450	38958451	20170532	950	82767											
RYR1	6261	broad.mit.edu	37	chr19	38968433	38968433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccctgactaccatcagcaCgacatgagcttcgacctcag	7	16	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:38968433C>T	uc002oit.2	+	30	4507	c.4377C>T	c.(4375-4377)CAC>CAT	p.H1459H	RYR1_uc002oiu.2_Silent_p.H1459H	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1459	Cytoplasmic.|B30.2/SPRY 3.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCATCAGCACGACATGAGCT	0.627													T	38968433	C	T	38968433	2	4	152	1	0	0	0	0	0	0	0	1	13768	535	19	1		1	RYR1	19	38968433	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	9982	38968433	20160550	951	82768											
ACTN4	81	broad.mit.edu	37	chr19	39219950	39219950	+	Frame_Shift_Del	DEL	C	C	-													aggagctgcggagagagctgCcccccgaccaggccgagtac							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:39219950delC	uc002oja.1	+	21	2673	c.2614delC	c.(2614-2616)CCCfs	p.P872fs	ACTN4_uc002ojb.1_Frame_Shift_Del_p.P194fs	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	872					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAGAGAGCTGCCCCCCGACCA	0.672													-	39219950	C	-	39219950	7	5	152	1	0	1	0	1	0	0	0	0	207	739	26	0	2696	0	ACTN4	19	39219950	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	251517	39219950	19909033	952	82769											
FCGBP	8857	broad.mit.edu	37	chr19	40368363	40368363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggcctggcaggcggccaCgtaggaagccagagccttgc	16	13	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:40368363C>T	uc002omp.3	-	28	12993	c.12985G>A	c.(12985-12987)GTG>ATG	p.V4329M		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4329						extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGGCGGCCACGTAGGAAGCC	0.637													T	40368363	C	T	40368363	3	4	152	1	0	0	0	0	1	0	0	0	5778	536	19	1	3268	1	FCGBP	19	40368363	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1148413	40368363	18760620	953	82770											
PSMC4	5704	broad.mit.edu	37	chr19	40485724	40485724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtcatcctgtcatcagCtgcattcatccgggtcgtgg	11	11	4	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:40485724C>T	uc002omq.2	+	7	711	c.674C>T	c.(673-675)GCT>GTT	p.A225V	PSMC4_uc002omr.2_Missense_Mutation_p.A194V	NM_006503	NP_006494	P43686	PRS6B_HUMAN	proteasome 26S ATPase subunit 4 isoform 1	225					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			ovary(1)	1	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTGTCATCAGCTGCATTCATC	0.542													T	40485724	C	T	40485724	3	4	152	1	0	0	0	0	1	0	0	0	12689	811	28	2	700	2	PSMC4	19	40485724	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	117361	40485724	18643259	954	82771											
C19orf47	126526	broad.mit.edu	37	chr19	40832311	40832311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgggcatgttgatgacGtacttcccctccatctcagc	8	14	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:40832311G>A	uc002oni.3	-	7	634	c.633C>T	c.(631-633)TAC>TAT	p.Y211Y	C19orf47_uc002ong.2_Silent_p.Y70Y|C19orf47_uc002onh.2_Silent_p.Y144Y	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	hypothetical protein LOC126526	211										ovary(1)|skin(1)	2			Lung(22;0.000636)			TGTTGATGACGTACTTCCCCT	0.647													A	40832311	G	A	40832311	2	1	152	1	0	0	0	0	0	0	0	1	1930	1140	40	1		1	C19orf47	19	40832311	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	346587	40832311	18296672	955	82772											
AXL	558	broad.mit.edu	37	chr19	41759537	41759537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgctagtgaagttcatgGcagacatcgccagtggcatg	13	8	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:41759537G>A	uc010ehj.2	+	17	2150	c.1960G>A	c.(1960-1962)GCA>ACA	p.A654T	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehk.2_Missense_Mutation_p.A645T	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	654	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						GAAGTTCATGGCAGACATCGC	0.577													A	41759537	G	A	41759537	3	1	152	1	0	0	0	0	1	0	0	0	1238	1203	42	2	2026	2	AXL	19	41759537	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	927226	41759537	17369446	956	82773											
BCKDHA	593	broad.mit.edu	37	chr19	41884362	41884362	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctgaggggtttgcagttcCtgtcaccgcctcttccctcc	9	17	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:41884362C>A	uc002oqm.3	+	2	499	c.148C>A	c.(148-150)CTG>ATG	p.L50M	CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Missense_Mutation_p.L50M|TMEM91_uc010ehq.2_Missense_Mutation_p.L50M|TMEM91_uc002oql.2_Missense_Mutation_p.L50M|TMEM91_uc010ehr.2_Missense_Mutation_p.L50M|TMEM91_uc010ehs.2_Missense_Mutation_p.L50M|TMEM91_uc010eht.2_Missense_Mutation_p.L50M|TMEM91_uc002oqk.3_Missense_Mutation_p.L50M|TMEM91_uc002oqn.2_Missense_Mutation_p.L50M	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	Error:Variant_position_missing_in_P12694_after_alignment					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0						TTTGCAGTTCCTGTCACCGCC	0.617													A	41884362	C	A	41884362	3	1	152	1	0	0	0	0	1	0	0	0	1359	680	24	5		5	BCKDHA	19	41884362	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	124825	41884362	17244621	957	82774											
ZNF225	7768	broad.mit.edu	37	chr19	44636030	44636030	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttattctcaccagagagcGcacagtggagaaaagccata	10	10	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:44636030G>A	uc002oyj.1	+	5	1506	c.1263G>A	c.(1261-1263)GCG>GCA	p.A421A	ZNF225_uc010eje.1_Silent_p.A338A|ZNF225_uc010ejf.1_Silent_p.A421A	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	421	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				ACCAGAGAGCGCACAGTGGAG	0.453													A	44636030	G	A	44636030	2	1	152	1	0	0	0	0	0	0	0	1	17776	1074	38	1		1	ZNF225	19	44636030	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2751668	44636030	14492953	958	82775											
ZNF234	10780	broad.mit.edu	37	chr19	44661759	44661759	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctcgcatcttctaacccaTcagagagttcacagtgggga	10	12	4	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:44661759T>C	uc002oym.2	+	6	1897	c.1590T>C	c.(1588-1590)CAT>CAC	p.H530H	ZNF234_uc002oyl.3_Silent_p.H530H	NM_006630	NP_006621	Q14588	ZN234_HUMAN	zinc finger protein 234	530	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				TTCTAACCCATCAGAGAGTTC	0.458													C	44661759	T	C	44661759	2	2	152	1	0	0	0	0	0	0	0	1	17784	1432	50	3		3	ZNF234	19	44661759	Silent	SNP	T	TCGA-CD-8536-01A-11D-2340-08	25729	44661759	14467224	959	82776											
CLPTM1	1209	broad.mit.edu	37	chr19	45493705	45493705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggcctgtccgtgcgctcCgtcttcttcggcgttttcca	12	14	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:45493705C>T	uc002pai.2	+	10	1200	c.1185C>T	c.(1183-1185)TCC>TCT	p.S395S	CLPTM1_uc010xxf.1_Silent_p.S293S|CLPTM1_uc010xxg.1_Silent_p.S381S	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	395	Helical; (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CCGTGCGCTCCGTCTTCTTCG	0.602													T	45493705	C	T	45493705	2	4	152	1	0	0	0	0	0	0	0	1	3554	639	23	1		1	CLPTM1	19	45493705	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	831946	45493705	13635278	960	82777											
ERCC2	2068	broad.mit.edu	37	chr19	45864875	45864875	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatctccagagtatgcagcaGggaccggaggcgttcagcac	14	11	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:45864875G>T	uc002pbj.2	-	12	1191	c.1144C>A	c.(1144-1146)CTG>ATG	p.L382M	ERCC2_uc002pbh.2_5'Flank|ERCC2_uc002pbi.2_Missense_Mutation_p.L75M|ERCC2_uc010ejz.2_Missense_Mutation_p.L304M|ERCC2_uc002pbk.2_Missense_Mutation_p.L358M|ERCC2_uc002pbl.3_Missense_Mutation_p.L358M	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	382					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GTATGCAGCAGGGACCGGAGG	0.617			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				T	45864875	G	T	45864875	3	4	152	1	0	0	0	0	1	0	0	0	5213	991	35	5	1243	5	ERCC2	19	45864875	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	371170	45864875	13264108	961	82778											
DMPK	1760	broad.mit.edu	37	chr19	46280616	46280618	+	In_Frame_Del	DEL	TCC	TCC	-													tcaccatggcagtgagcccgTcctccaccaagtcgaagttg					rs114931926	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:46280615_46280617GTCC>G	uc002pdi.1	-	8	1378_1380	c.1192_1194GGAC>C	c.(1192-1194)gac>C	p.D398del	DMPK_uc010xxs.1_In_Frame_Del_p.D283del|DMPK_uc002pdd.1_In_Frame_Del_p.D382del|DMPK_uc002pde.1_In_Frame_Del_p.D382del|DMPK_uc002pdg.1_In_Frame_Del_p.D372del|DMPK_uc002pdf.1_In_Frame_Del_p.D372del|DMPK_uc002pdh.1_In_Frame_Del_p.D372del|DMPK_uc010xxt.1_In_Frame_Del_p.D372del	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	382	AGC-kinase C-terminal.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CAGTGAGCCCGTCCTCCACCAAG	0.621													-	46280618	TCC	-	46280616	7	5	152	1	0	1	0	1	0	0	0	0	4584	1667	58	0	813	0	DMPK	19	46280616	In_Frame_Del	DEL	TCC	TCGA-CD-8536-01A-11D-2340-08	415741	46280616	12848367	962	82779											
CCDC8	83987	broad.mit.edu	37	chr19	46915950	46915950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaggaactgggtcagccGctcccgaaattctgcttcct	9	14	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:46915950G>A	uc002pep.2	-	1	970	c.118C>T	c.(118-120)CGG>TGG	p.R40W		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	40						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		tgggtcagccgctcccgaaat	0.1													A	46915950	G	A	46915950	3	1	152	1	0	0	0	0	1	0	0	0	2853	1086	38	1	1502	1	CCDC8	19	46915950	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	635334	46915950	12213033	963	82780											
PNMAL2	57469	broad.mit.edu	37	chr19	46997443	46997443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacgcccagccttcttcGcctggggagggagatccggc	15	15	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:46997443G>A	uc002pes.2	-	1	1727	c.1280C>T	c.(1279-1281)GCG>GTG	p.A427V	uc002peu.1_5'Flank	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	427										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		AGCCTTCTTCGCCTGGGGAGG	0.701													A	46997443	G	A	46997443	3	1	152	1	0	0	0	0	1	0	0	0	12158	1087	38	1	631	1	PNMAL2	19	46997443	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	81493	46997443	12131540	964	82781											
CRX	1406	broad.mit.edu	37	chr19	48342617	48342617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctaaatgcaggcagcagcGacagcagcagaaacagcagc	13	11	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:48342617G>A	uc002phq.3	+	4	497	c.293G>A	c.(292-294)CGA>CAA	p.R98Q		NM_000554	NP_000545	O43186	CRX_HUMAN	cone-rod homeobox protein	98	Homeobox.				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		AGgcagcagcgacagcagcag	0.537													A	48342617	G	A	48342617	3	1	152	1	0	0	0	0	1	0	0	0	3902	1058	37	1	303	1	CRX	19	48342617	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1345174	48342617	10786366	965	82782											
NUCB1	4924	broad.mit.edu	37	chr19	49414506	49414506	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacctggagctgctgatccaGacggtaatgggagtgggtcc	16	9	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:49414506G>A	uc002plb.3	+	5	549	c.477G>A	c.(475-477)CAG>CAA	p.Q159Q	NUCB1_uc002pla.2_Silent_p.Q159Q|NUCB1_uc002plc.2_Silent_p.Q159Q	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	nucleobindin 1 precursor	159	Potential.					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding				0		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		TGCTGATCCAGACGGTAATGG	0.562													A	49414506	G	A	49414506	2	1	152	1	0	0	0	0	0	0	0	1	10718	933	33	4		4	NUCB1	19	49414506	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1071889	49414506	9714477	966	82783											
RUVBL2	10856	broad.mit.edu	37	chr19	49514566	49514566	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaaccgtggcatcacgCggtgagccggctacaggggc	14	15	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:49514566C>T	uc002plr.1	+	11	1013	c.1000C>T	c.(1000-1002)CGA>TGA	p.R334*	RUVBL2_uc002plq.1_Nonsense_Mutation_p.R289*|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Nonsense_Mutation_p.R289*|RUVBL2_uc010yac.1_Nonsense_Mutation_p.R289*	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	RuvB-like 2	334					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		TGGCATCACGCGGTGAGCCGG	0.622													T	49514566	C	T	49514566	4	4	152	1	0	0	0	0	0	1	0	0	13753	782	27	1	1042	1	RUVBL2	19	49514566	Nonsense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	100060	49514566	9614417	967	82784											
TRPM4	54795	broad.mit.edu	37	chr19	49703691	49703691	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatcgtgagcaagatggTgaggcaggggcggggccaaa	18	8	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:49703691T>C	uc002pmw.2	+	18	2850	c.2778_splice	c.e18+2	p.M926_splice	TRPM4_uc010emu.2_Splice_Site_p.M781_splice|TRPM4_uc010yak.1_Splice_Site_p.M390_splice|TRPM4_uc002pmx.2_Splice_Site_p.M752_splice|TRPM4_uc010emv.2_Splice_Site_p.M811_splice|TRPM4_uc010yal.1_Splice_Site_p.M572_splice|TRPM4_uc002pmy.2_Splice_Site_p.M268_splice	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,						dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		AGCAAGATGGTGAGGCAGGGG	0.607													C	49703691	T	C	49703691	5	2	152	1	0	0	0	0	0	0	1	0	16585	1710	59	3	2850	3	TRPM4	19	49703691	Splice_Site	SNP	T	TCGA-CD-8536-01A-11D-2340-08	189125	49703691	9425292	968	82785											
SLC17A7	57030	broad.mit.edu	37	chr19	49933839	49933839	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgtgtgtggccccataGgagggcgggggtgcaggggg	23	7	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:49933839G>T	uc002pnp.2	-	12	1792	c.1620C>A	c.(1618-1620)TCC>TCA	p.S540S	SLC17A7_uc002pno.2_Silent_p.S202S	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	540	Cytoplasmic (Potential).|Pro-rich.				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			ovary(1)|pancreas(1)|skin(1)	3		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TGGCCCCATAGGAGGGCGGGG	0.652													T	49933839	G	T	49933839	2	4	152	1	0	0	0	0	0	0	0	1	14422	987	35	5		5	SLC17A7	19	49933839	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	230148	49933839	9195144	969	82786											
IRF3	3661	broad.mit.edu	37	chr19	50165518	50165518	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaccagccgcaggccctcCgggcaggagatggtctgctg	14	16	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:50165518C>T	uc010end.1	-	6	1051	c.669G>A	c.(667-669)CCG>CCA	p.P223P	IRF3_uc002pos.1_5'Flank|IRF3_uc002pot.1_Intron|IRF3_uc002pox.1_Silent_p.P223P|IRF3_uc002poy.1_Silent_p.P223P|IRF3_uc002pou.2_Silent_p.P223P|IRF3_uc002pov.2_Silent_p.P77P|IRF3_uc002pow.2_Silent_p.P223P|IRF3_uc002poz.1_Silent_p.P223P|BCL2L12_uc002ppa.2_5'Flank|BCL2L12_uc002ppb.2_5'Flank	NM_001571	NP_001562	Q14653	IRF3_HUMAN	interferon regulatory factor 3	223	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		GCAGGCCCTCCGGGCAGGAGA	0.657													T	50165518	C	T	50165518	2	4	152	1	0	0	0	0	0	0	0	1	7831	639	23	1		1	IRF3	19	50165518	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	231679	50165518	8963465	970	82787											
CPT1C	126129	broad.mit.edu	37	chr19	50213644	50213644	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaatgtcgactgccatgTcgttccattctccctatttg	7	11	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:50213644T>A	uc002ppj.2	+	14	1839	c.1634T>A	c.(1633-1635)GTC>GAC	p.V545D	CPT1C_uc002ppl.3_Missense_Mutation_p.V511D|CPT1C_uc002ppi.2_Missense_Mutation_p.V462D|CPT1C_uc002ppk.2_Missense_Mutation_p.V534D|CPT1C_uc010eng.2_Missense_Mutation_p.V545D|CPT1C_uc010enh.2_Missense_Mutation_p.V545D|CPT1C_uc010ybc.1_Missense_Mutation_p.V416D|CPT1C_uc010eni.1_Missense_Mutation_p.V202D	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	545	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GACTGCCATGTCGTTCCATTC	0.552													A	50213644	T	A	50213644	3	1	152	1	0	0	0	0	1	0	0	0	3833	1667	58	5	1684	5	CPT1C	19	50213644	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	48126	50213644	8915339	971	82788											
FUZ	80199	broad.mit.edu	37	chr19	50311684	50311684	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgacctggtgggaagtgCgtggaggtgaccagggtata	18	7	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:50311684C>T	uc002ppq.1	-	10	1125	c.1020G>A	c.(1018-1020)ACG>ACA	p.T340T	FUZ_uc002ppr.1_Silent_p.T240T|FUZ_uc002pps.1_RNA|FUZ_uc002ppt.1_RNA|FUZ_uc002ppu.1_Silent_p.T304T|FUZ_uc002ppv.1_Silent_p.T290T	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	fuzzy homolog	340	Leu-rich.				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		GTGGGAAGTGCGTGGAGGTGA	0.632													T	50311684	C	T	50311684	2	4	152	1	0	0	0	0	0	0	0	1	6112	755	27	1		1	FUZ	19	50311684	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	98040	50311684	8817299	972	82789											
ZNF473	25888	broad.mit.edu	37	chr19	50548645	50548645	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcatcagaaaactcacacAgatagtaagtcctacaactg	7	10	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:50548645A>G	uc002prn.2	+	5	1182	c.945A>G	c.(943-945)ACA>ACG	p.T315T	ZNF473_uc002prm.2_Silent_p.T315T|ZNF473_uc010ybo.1_Silent_p.T303T	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	315	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AAACTCACACAGATAGTAAGT	0.473													G	50548645	A	G	50548645	2	3	152	1	0	0	0	0	0	0	0	1	17928	175	7	3		3	ZNF473	19	50548645	Silent	SNP	A	TCGA-CD-8536-01A-11D-2340-08	236961	50548645	8580338	973	82790											
LRRC4B	94030	broad.mit.edu	37	chr19	51022077	51022077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcgaggcggtgcaggggcGtgaagaggtcgtggggcagc	22	8	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:51022077G>A	uc002pss.2	-	3	1030	c.893C>T	c.(892-894)ACG>ATG	p.T298M		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	298	LRR 9.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTGCAGGGGCGTGAAGAGGTC	0.637													A	51022077	G	A	51022077	3	1	152	1	0	0	0	0	1	0	0	0	9007	1145	40	1	1252	1	LRRC4B	19	51022077	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	473432	51022077	8106906	974	82791											
ZNF175	7728	broad.mit.edu	37	chr19	52091589	52091589	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgaattcacacgggagaaAgaccttatgtgtgttctgaa	11	7	2	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:52091589A>G	uc002pxb.2	+	5	2383	c.2005A>G	c.(2005-2007)AGA>GGA	p.R669G	uc002pxc.1_5'Flank	NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	zinc finger protein 175	669					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CACGGGAGAAAGACCTTATGT	0.423													G	52091589	A	G	52091589	3	3	152	1	0	0	0	0	1	0	0	0	17742	64	3	3	2019	3	ZNF175	19	52091589	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	1069512	52091589	7037394	975	82792											
ZNF160	90338	broad.mit.edu	37	chr19	53572140	53572140	+	Frame_Shift_Del	DEL	T	T	-													cgatgacttctaaggtgtgaTttttgagtgaagctcttgcc							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:53572139_53572139AT>A	uc010eqk.3	-	6	2064	c.1648_1648AT>T	c.(1648-1650)tcafs	p.S550fs	ZNF160_uc002qaq.4_Frame_Shift_Del_p.S550fs|ZNF160_uc002qar.4_Frame_Shift_Del_p.S550fs	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	550					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CTAAGGTGTGATTTTTGAGTG	0.418													-	53572140	T	-	53572140	7	5	152	1	0	1	0	1	0	0	0	0	17736	1490	52	0	813	0	ZNF160	19	53572140	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	1480551	53572140	5556843	976	82793											
ZNF761	388561	broad.mit.edu	37	chr19	53958336	53958336	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacccatatatctaataaccAtgggaataatttctggaatt	5	7	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:53958336A>G	uc010eqp.2	+	7	1033	c.575A>G	c.(574-576)CAT>CGT	p.H192R	ZNF761_uc010ydy.1_Missense_Mutation_p.H138R|ZNF761_uc002qbt.1_Missense_Mutation_p.H138R	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		TCTAATAACCATGGGAATAAT	0.358													G	53958336	A	G	53958336	3	3	152	1	0	0	0	0	1	0	0	0	18133	217	8	3	586	3	ZNF761	19	53958336	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	386196	53958336	5170647	977	82794											
LILRA2	11027	broad.mit.edu	37	chr19	55086421	55086421	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccgagtcgcaggtggtcGtacaggtgctatgcttatga	14	9	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:55086421G>A	uc002qgg.3	+	4	665	c.576G>A	c.(574-576)TCG>TCA	p.S192S	LILRA2_uc010ern.2_Silent_p.S192S|LILRA2_uc002qgf.2_Silent_p.S192S|LILRA2_uc010yfe.1_Silent_p.S192S|LILRA2_uc010yff.1_Silent_p.S180S|LILRA2_uc010ero.2_Silent_p.S180S|LILRA2_uc010yfg.1_Silent_p.S192S	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	192	Extracellular (Potential).|Ig-like C2-type 2.				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		GCAGGTGGTCGTACAGGTGCT	0.572													A	55086421	G	A	55086421	2	1	152	1	0	0	0	0	0	0	0	1	8785	1132	40	1		1	LILRA2	19	55086421	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1128085	55086421	4042562	978	82795											
ZNF784	147808	broad.mit.edu	37	chr19	56133442	56133442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgctcgccagtgtgcacgCgctcgtggtctcgcatgtct	13	15	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:56133442C>T	uc002qll.1	-	2	661	c.647G>A	c.(646-648)CGC>CAC	p.R216H	ZNF784_uc010etb.1_RNA	NM_203374	NP_976308	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	216	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AGTGTGCACGCGCTCGTGGTC	0.557													T	56133442	C	T	56133442	3	4	152	1	0	0	0	0	1	0	0	0	18153	768	27	1	328	1	ZNF784	19	56133442	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1047021	56133442	2995541	979	82796											
ZNF784	147808	broad.mit.edu	37	chr19	56133473	56133473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcatgtctgaggagcggcGgaagggcttggcgcagaacc	17	10	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:56133473G>A	uc002qll.1	-	2	630	c.616C>T	c.(616-618)CGC>TGC	p.R206C	ZNF784_uc010etb.1_RNA	NM_203374	NP_976308	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	206	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GAGGAGCGGCGGAAGGGCTTG	0.463													A	56133473	G	A	56133473	3	1	152	1	0	0	0	0	1	0	0	0	18153	1116	39	1	359	1	ZNF784	19	56133473	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	31	56133473	2995510	980	82797											
ZNF583	147949	broad.mit.edu	37	chr19	56935120	56935120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagcctttagccatcgtGgatacctaattgtacatcag	9	9	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:56935120G>A	uc010ygl.1	+	5	1258	c.1093G>A	c.(1093-1095)GGA>AGA	p.G365R	ZNF583_uc002qnc.2_Missense_Mutation_p.G365R|ZNF583_uc010ygm.1_Missense_Mutation_p.G365R	NM_001159860	NP_001153332	Q96ND8	ZN583_HUMAN	zinc finger protein 583	365	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TAGCCATCGTGGATACCTAAT	0.428													A	56935120	G	A	56935120	3	1	152	1	0	0	0	0	1	0	0	0	18012	1349	47	4	1107	4	ZNF583	19	56935120	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	801647	56935120	2193863	981	82798											
ZNF417	147687	broad.mit.edu	37	chr19	58420289	58420289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtgaactctctcatgaaCgagaagatgatacttcctgt	9	8	2	5			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:58420289C>T	uc002qqq.2	-	3	1556	c.1357G>A	c.(1357-1359)GTT>ATT	p.V453I	ZNF417_uc010yhm.1_Missense_Mutation_p.V410I|ZNF417_uc002qqr.2_Missense_Mutation_p.V452I	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	453	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CTCTCATGAACGAGAAGATGA	0.423													T	58420289	C	T	58420289	3	4	152	1	0	0	0	0	1	0	0	0	17891	536	19	1	374	1	ZNF417	19	58420289	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1485169	58420289	708694	982	82799											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596463	58596463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcccgtccccatcctcGgggtgcggcctcttggttcc	11	18	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:58596463G>A	uc002qri.2	-	7	1431	c.1122C>T	c.(1120-1122)CCC>CCT	p.P374P	ZSCAN18_uc002qrj.3_Silent_p.P373P|ZSCAN18_uc010yhs.1_Silent_p.P238P|ZSCAN18_uc002qrh.2_Silent_p.P374P|ZSCAN18_uc010yht.1_Silent_p.P430P|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	374					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCCATCCTCGGGGTGCGGCC	0.716													A	58596463	G	A	58596463	2	1	152	1	0	0	0	0	0	0	0	1	18227	1103	39	1		1	ZSCAN18	19	58596463	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	176174	58596463	532520	983	82800											
SLC27A5	10998	broad.mit.edu	37	chr19	59010237	59010237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccccgtcgaaagtctggCcgggggctagctgcacagca	13	14	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:59010237C>T	uc002qtc.2	-	9	1921	c.1811G>A	c.(1810-1812)GGC>GAC	p.G604D	SLC27A5_uc002qtb.2_RNA	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid	604	Cytoplasmic (Probable).				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GAAAGTCTGGCCGGGGGCTAG	0.622													T	59010237	C	T	59010237	3	4	152	1	0	0	0	0	1	0	0	0	14529	739	26	2	269	2	SLC27A5	19	59010237	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	413774	59010237	118746	984	82801											
ZBTB45	84878	broad.mit.edu	37	chr19	59027836	59027836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagtggctgcactcatacGtaggtggctcagcacctggg	14	11	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:59027836G>A	uc002qtd.2	-	2	1497	c.1205C>T	c.(1204-1206)ACG>ATG	p.T402M	ZBTB45_uc002qte.2_Missense_Mutation_p.T402M|ZBTB45_uc002qtf.2_Missense_Mutation_p.T402M	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GCACTCATACGTAGGTGGCTC	0.657													A	59027836	G	A	59027836	3	1	152	1	0	0	0	0	1	0	0	0	17543	1145	40	1	338	1	ZBTB45	19	59027836	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	17599	59027836	101147	985	82802											
SIGLEC1	6614	broad.mit.edu	37	chr20	3674201	3674201	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgacgttgggcagggggAtggagtgggcatccaggcgc	20	8	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:3674201A>G	uc002wja.2	-	13	3401	c.3401T>C	c.(3400-3402)ATC>ACC	p.I1134T	SIGLEC1_uc002wjb.1_5'Flank|SIGLEC1_uc002wiz.3_Missense_Mutation_p.I1134T	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1134	Ig-like C2-type 11.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						GGGCAGGGGGATGGAGTGGGC	0.657													G	3674201	A	G	3674201	3	3	152	1	0	0	0	0	1	0	0	0	14305	333	12	3	1764	3	SIGLEC1	20	3674201	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08		3674201	59351319	986	82803											
ISM1	140862	broad.mit.edu	37	chr20	13260512	13260512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatacagccccaggccacCggacttttgaaaccaaagat	7	14	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:13260512C>T	uc010gce.1	+	3	616	c.610C>T	c.(610-612)CGG>TGG	p.R204W	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	204						extracellular region					0						CCCAGGCCACCGGACTTTTGA	0.512													T	13260512	C	T	13260512	3	4	152	1	0	0	0	0	1	0	0	0	7860	643	23	1	620	1	ISM1	20	13260512	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	9586311	13260512	49765008	987	82804											
SEL1L2	80343	broad.mit.edu	37	chr20	13866948	13866950	+	In_Frame_Del	DEL	CTC	CTC	-													cattacttgtatctgaacatCtcctctttctgccaaaaatt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:13866947_13866949TCTC>T	uc010gcf.3	-	8	967_969	c.885_887GAGA>A	c.(883-888)ggagat>ggAt	p.D296del	SEL1L2_uc002woq.4_In_Frame_Del_p.D157del|SEL1L2_uc010zrl.2_In_Frame_Del_p.D296del|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	296						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TATCTGAACATCTCCTCTTTCTG	0.35													-	13866950	CTC	-	13866948	7	5	152	1	0	1	0	1	0	0	0	0	14011	913	32	0	1228	0	SEL1L2	20	13866948	In_Frame_Del	DEL	CTC	TCGA-CD-8536-01A-11D-2340-08	606436	13866948	49158572	988	82805											
MACROD2	140733	broad.mit.edu	37	chr20	13976362	13976362	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacacaccctgtttgcccGtgagcctggggaacttgcag	11	14	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:13976362G>A	uc002wou.2	+	1	217	c.-47G>A	c.(-49--45)CCGTG>CCATG		MACROD2_uc002wot.2_Translation_Start_Site|SEL1L2_uc002wor.2_5'Flank|MACROD2_uc002wos.2_RNA	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2 isoform 1												0		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CTGTTTGCCCGTGAGCCTGGG	0.587													A	13976362	G	A	13976362	1	1	152	1	0	0	0	0	0	0	0	0	9146	1160	40	1		1	MACROD2	20	13976362	Translation_Start_Site	SNP	G	TCGA-CD-8536-01A-11D-2340-08	109414	13976362	49049158	989	82806											
CBFA2T2	9139	broad.mit.edu	37	chr20	32210942	32210942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacctgcccctgctgcagCgggaactgctgcactgcgct	11	17	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:32210942C>T	uc002wzg.1	+	6	1096	c.559C>T	c.(559-561)CGG>TGG	p.R187W	CBFA2T2_uc010zug.1_5'UTR|CBFA2T2_uc002wze.1_Missense_Mutation_p.R178W|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Missense_Mutation_p.R158W|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA	NM_005093	NP_005084	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit	187	TAFH.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)|skin(1)	2						CCTGCTGCAGCGGGAACTGCT	0.577													T	32210942	C	T	32210942	3	4	152	1	0	0	0	0	1	0	0	0	2697	759	27	1	615	1	CBFA2T2	20	32210942	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	18234580	32210942	30814578	990	82807											
ACSS2	55902	broad.mit.edu	37	chr20	33501949	33501949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctgaaggagctggctgacGaggccctgcagaagtgtcag	15	10	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:33501949G>A	uc002xbd.2	+	6	815	c.694G>A	c.(694-696)GAG>AAG	p.E232K	ACSS2_uc002xbc.2_Missense_Mutation_p.E137K|ACSS2_uc010zum.1_Intron|ACSS2_uc010gey.2_Missense_Mutation_p.E232K|ACSS2_uc002xbe.2_Intron|ACSS2_uc002xbf.2_Intron	NM_018677	NP_061147	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	232					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding				0					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCTGGCTGACGAGGCCCTGCA	0.542													A	33501949	G	A	33501949	3	1	152	1	0	0	0	0	1	0	0	0	189	1059	37	1	716	1	ACSS2	20	33501949	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1291007	33501949	29523571	991	82808											
MYH7B	57644	broad.mit.edu	37	chr20	33583304	33583304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctggaggacgagtgcacgGagctcaagaaggacattgat	15	7	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:33583304G>A	uc002xbi.1	+	26	3084	c.2992G>A	c.(2992-2994)GAG>AAG	p.E998K		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	956	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGAGTGCACGGAGCTCAAGAA	0.622													A	33583304	G	A	33583304	3	1	152	1	0	0	0	0	1	0	0	0	10040	1175	41	4	3094	4	MYH7B	20	33583304	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	81355	33583304	29442216	992	82809											
RPN2	6185	broad.mit.edu	37	chr20	35856962	35856962	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccatctagacatttgtcCgactccataaccagaagact	5	13	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:35856962C>T	uc002xgp.2	+	12	1613	c.1309C>T	c.(1309-1311)CGA>TGA	p.R437*	RPN2_uc002xgo.3_Nonsense_Mutation_p.R437*|RPN2_uc010gfw.2_Nonsense_Mutation_p.R280*|RPN2_uc002xgq.2_Nonsense_Mutation_p.R405*	NM_002951	NP_002942	P04844	RPN2_HUMAN	ribophorin II isoform 1 precursor	437	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				GACATTTGTCCGACTCCATAA	0.433													T	35856962	C	T	35856962	4	4	152	1	0	0	0	0	0	1	0	0	13608	644	23	1	1355	1	RPN2	20	35856962	Nonsense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	2273658	35856962	27168558	993	82810											
ZHX3	23051	broad.mit.edu	37	chr20	39831063	39831063	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggtgggaagttgcctcGcttatagtcttcgtaccatt	10	11	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:39831063G>A	uc002xjs.1	-	3	2872	c.2494C>T	c.(2494-2496)CGA>TGA	p.R832*	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Nonsense_Mutation_p.R832*|ZHX3_uc002xjt.1_Nonsense_Mutation_p.R832*|ZHX3_uc002xju.1_Nonsense_Mutation_p.R832*|ZHX3_uc002xjv.1_Nonsense_Mutation_p.R832*|ZHX3_uc002xjw.1_Nonsense_Mutation_p.R832*|ZHX3_uc010ggg.1_Nonsense_Mutation_p.R832*	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	832					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				AAGTTGCCTCGCTTATAGTCT	0.562													A	39831063	G	A	39831063	4	1	152	1	0	0	0	0	0	1	0	0	17674	1095	38	1	384	1	ZHX3	20	39831063	Nonsense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	3974101	39831063	23194457	994	82811											
CHD6	84181	broad.mit.edu	37	chr20	40081526	40081526	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagctcgtcttcctcaaaCgagttgtagtgtttggtctg	11	8	3	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:40081526C>T	uc002xka.1	-	21	3355	c.3177G>A	c.(3175-3177)TCG>TCA	p.S1059S		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1059					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				CTTCCTCAAACGAGTTGTAGT	0.507													T	40081526	C	T	40081526	2	4	152	1	0	0	0	0	0	0	0	1	3329	523	19	1		1	CHD6	20	40081526	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	250463	40081526	22943994	995	82812											
L3MBTL	26013	broad.mit.edu	37	chr20	42161519	42161519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgatgtggtggacagccGcttcctggtgcactttgaca	13	11	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:42161519G>A	uc010zwh.1	+	12	1371	c.1325G>A	c.(1324-1326)CGC>CAC	p.R442H	L3MBTL_uc002xkl.2_Missense_Mutation_p.R374H|L3MBTL_uc002xkm.2_Missense_Mutation_p.R374H|L3MBTL_uc010ggl.2_Missense_Mutation_p.R374H|L3MBTL_uc002xkn.1_Missense_Mutation_p.R133H|L3MBTL_uc002xko.2_Missense_Mutation_p.R26H	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	374	MBT 2.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GTGGACAGCCGCTTCCTGGTG	0.607													A	42161519	G	A	42161519	3	1	152	1	0	0	0	0	1	0	0	0	8591	1087	38	1	1155	1	L3MBTL	20	42161519	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2079993	42161519	20864001	996	82813											
RBPJL	11317	broad.mit.edu	37	chr20	43942683	43942683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtcccccagctgatgggCactctgcccaaggagacttc	10	14	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:43942683C>T	uc002xns.2	+	8	838	c.766C>T	c.(766-768)CAC>TAC	p.H256Y	RBPJL_uc002xnt.2_Missense_Mutation_p.H256Y	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	recombining binding protein L	256					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				AGCTGATGGGCACTCTGCCCA	0.587													T	43942683	C	T	43942683	3	4	152	1	0	0	0	0	1	0	0	0	13162	710	25	2	796	2	RBPJL	20	43942683	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1781164	43942683	19082837	997	82814											
DNTTIP1	116092	broad.mit.edu	37	chr20	44439551	44439551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcatcgaggaggacatcCgggaccttgcggccagtgat	13	12	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:44439551C>T	uc002xpk.2	+	12	891	c.823C>T	c.(823-825)CGG>TGG	p.R275W	UBE2C_uc002xpl.2_5'Flank|UBE2C_uc002xpm.2_5'Flank|UBE2C_uc002xpn.2_5'Flank|UBE2C_uc002xpo.2_5'Flank|UBE2C_uc002xpp.2_5'Flank|UBE2C_uc002xpq.2_5'Flank	NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	terminal deoxynucleotidyltransferase interacting	275						nucleus				ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.0122)				GGAGGACATCCGGGACCTTGC	0.537													T	44439551	C	T	44439551	3	4	152	1	0	0	0	0	1	0	0	0	4681	643	23	1	869	1	DNTTIP1	20	44439551	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	496868	44439551	18585969	998	82815											
CDH22	64405	broad.mit.edu	37	chr20	44839124	44839124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggaacgtgcccaggtcggCgaagcgggggtccacgaact	17	12	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:44839124C>T	uc002xrm.2	-	6	1509	c.1108G>A	c.(1108-1110)GCC>ACC	p.A370T	CDH22_uc010ghk.1_Missense_Mutation_p.A370T|CDH22_uc002xrn.1_Missense_Mutation_p.A121T	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	370	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CCCAGGTCGGCGAAGCGGGGG	0.711													T	44839124	C	T	44839124	3	4	152	1	0	0	0	0	1	0	0	0	3107	768	27	1	1402	1	CDH22	20	44839124	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	399573	44839124	18186396	999	82816											
NCOA3	8202	broad.mit.edu	37	chr20	46264985	46264985	+	Frame_Shift_Del	DEL	A	A	-													ctttggaaagcaaaggtcatAaaaaattactgcagttactt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:46264984_46264984TA>T	uc002xtk.3	+	11	2115	c.1854_1854TA>T	c.(1852-1854)catfs	p.H618fs	NCOA3_uc002xtl.3_Frame_Shift_Del_p.H618fs|NCOA3_uc002xtn.3_Frame_Shift_Del_p.H618fs|NCOA3_uc010ght.2_Frame_Shift_Del_p.H628fs|NCOA3_uc002xtm.3_Frame_Shift_Del_p.H618fs|NCOA3_uc010zyc.2_Frame_Shift_Del_p.H413fs	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	618	Ser-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCAAAGGTCATAAAAAATTAC	0.438													-	46264985	A	-	46264985	7	5	152	1	0	1	0	1	0	0	0	0	10230	363	13	0	1923	0	NCOA3	20	46264985	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	1425861	46264985	16760535	1000	82817											
NCOA3	8202	broad.mit.edu	37	chr20	46268544	46268544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagaccagtattgcaacaGcagcagcagatgcttcaaat	10	10	1	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:46268544G>A	uc002xtk.2	+	15	3136	c.2931G>A	c.(2929-2931)CAG>CAA	p.Q977Q	NCOA3_uc010ght.1_Silent_p.Q972Q|NCOA3_uc002xtl.2_Silent_p.Q977Q|NCOA3_uc002xtm.2_Silent_p.Q977Q|NCOA3_uc002xtn.2_Silent_p.Q977Q|NCOA3_uc010zyc.1_Silent_p.Q772Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	977	Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						TATTGCAACAGCAGCAGCAGA	0.418													A	46268544	G	A	46268544	2	1	152	1	0	0	0	0	0	0	0	1	10230	962	34	2		2	NCOA3	20	46268544	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	3559	46268544	16756976	1001	82818											
PREX1	57580	broad.mit.edu	37	chr20	47262418	47262418	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcgataactcatggtgtcGtggcctgagtcctcctggtc	12	12	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:47262418G>A	uc002xtw.1	-	26	3506	c.3483C>T	c.(3481-3483)CAC>CAT	p.H1161H	PREX1_uc002xtv.1_Silent_p.H458H	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	1161					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCATGGTGTCGTGGCCTGAGT	0.612													A	47262418	G	A	47262418	2	1	152	1	0	0	0	0	0	0	0	1	12476	1136	40	1		1	PREX1	20	47262418	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	993874	47262418	15763102	1002	82819											
ARFGEF2	10564	broad.mit.edu	37	chr20	47570300	47570300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacagaaaatggagacgcaCccagagaaagaggctcatca	11	10	2	4	rs143570842	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:47570300C>T	uc002xtx.3	+	6	963	c.811C>T	c.(811-813)CCC>TCC	p.P271S		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	271					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGGAGACGCACCCAGAGAAAG	0.483													T	47570300	C	T	47570300	3	4	152	1	0	0	0	0	1	0	0	0	853	507	18	4	833	4	ARFGEF2	20	47570300	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	307882	47570300	15455220	1003	82820											
ZNFX1	57169	broad.mit.edu	37	chr20	47871122	47871122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattctttctgctgatgtgcGgtactggcgttcatagctga	11	9	3	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:47871122G>A	uc002xui.2	-	10	3116	c.2869C>T	c.(2869-2871)CGC>TGC	p.R957C		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	957	Potential.						metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCTGATGTGCGGTACTGGCGT	0.512													A	47871122	G	A	47871122	3	1	152	1	0	0	0	0	1	0	0	0	18202	1116	39	1	2907	1	ZNFX1	20	47871122	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	300822	47871122	15154398	1004	82821											
ZNFX1	57169	broad.mit.edu	37	chr20	47886802	47886802	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagtccttccaggacgtgcCtgtaggcctcaaagtatgca	12	11	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:47886802C>A	uc002xui.2	-	3	1794	c.1547G>T	c.(1546-1548)AGG>ATG	p.R516M		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	516							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAGGACGTGCCTGTAGGCCTC	0.522													A	47886802	C	A	47886802	3	1	152	1	0	0	0	0	1	0	0	0	18202	681	24	5	4257	5	ZNFX1	20	47886802	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	15680	47886802	15138718	1005	82822											
KCNB1	3745	broad.mit.edu	37	chr20	47989772	47989772	+	Frame_Shift_Del	DEL	G	G	-													gtgctcccagggaggcttttGggggggctggagtccacact							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:47989771_47989771TG>T	uc002xur.1	-	1	2492	c.2326_2326CA>A	c.(2326-2328)aaafs	p.K776fs	KCNB1_uc002xus.1_Frame_Shift_Del_p.K776fs	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	776					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGAGGCTTTTGGGGGGGCTG	0.542													-	47989772	G	-	47989772	7	5	152	1	0	1	0	1	0	0	0	0	8012	1335	47	0	255	0	KCNB1	20	47989772	Frame_Shift_Del	DEL	G	TCGA-CD-8536-01A-11D-2340-08	102970	47989772	15035748	1006	82823											
ADNP	23394	broad.mit.edu	37	chr20	49509773	49509773	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggtaaatagcgattacagTagaggcatttgctagtaaaa	11	4	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:49509773T>C	uc002xvt.1	-	5	1823	c.1478A>G	c.(1477-1479)TAC>TGC	p.Y493C	ADNP_uc002xvu.1_Missense_Mutation_p.Y493C	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	493	C2H2-type 6; atypical.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						GCGATTACAGTAGAGGCATTT	0.378													C	49509773	T	C	49509773	3	2	152	1	0	0	0	0	1	0	0	0	323	1638	57	3	1834	3	ADNP	20	49509773	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08	1520001	49509773	13515747	1007	82824											
SALL4	57167	broad.mit.edu	37	chr20	50408612	50408612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgtcctctgagctgccgCcattctccctgtgacagtcc	8	16	3	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:50408612C>T	uc002xwh.3	-	2	511	c.410G>A	c.(409-411)GGC>GAC	p.G137D	SALL4_uc010gii.2_Missense_Mutation_p.G137D|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	137					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TGAGCTGCCGCCATTCTCCCT	0.587													T	50408612	C	T	50408612	3	4	152	1	0	0	0	0	1	0	0	0	13813	739	26	2	2763	2	SALL4	20	50408612	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	898839	50408612	12616908	1008	82825											
PCK1	5105	broad.mit.edu	37	chr20	56140816	56140817	+	Frame_Shift_Ins	INS	-	-	GA													cgacctcccctgtgaaatcgINSagagagagatccttgccttg					rs17847705		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:56140815_56140816C>CGA	uc002xyn.4	+	9	1987_1988	c.1824_1825C>CGA	c.(1822-1827)atcgagfs	p.I608fs	PCK1_uc010zzm.2_Frame_Shift_Ins_p.I291fs	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	608					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCTGTGAAATCGAGAGAGAGAT	0.465													GA	56140817	-	GA	56140816	7	5	152	1	0	1	1	0	0	0	0	0	11581	1059	37	0	1859	0	PCK1	20	56140816	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	5732204	56140816	6884704	1009	82826											
ZBP1	81030	broad.mit.edu	37	chr20	56189989	56189990	+	Frame_Shift_Ins	INS	-	-	A													actgctcatccatgtccagaINSaggtgcctgctcttcatcct							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:56189988_56189989G>GA	uc002xyo.3	-	3	737_738	c.456_457C>TC	c.(454-459)cttctgfs	p.L152fs	ZBP1_uc010gjm.3_Frame_Shift_Ins_p.L152fs|ZBP1_uc002xyp.3_Frame_Shift_Ins_p.L77fs|ZBP1_uc010zzn.2_Frame_Shift_Ins_p.L152fs	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	152						cytoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TCCATGTCCAGAAGGTGCCTGC	0.569													A	56189990	-	A	56189989	7	5	152	1	0	1	1	0	0	0	0	0	17518	233	9	0	930	0	ZBP1	20	56189989	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	49173	56189989	6835531	1010	82827											
NTSR1	4923	broad.mit.edu	37	chr20	61340974	61340974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccctgggccttcggcgacGccggctgccgcggctactac	13	18	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:61340974G>A	uc002ydf.2	+	1	786	c.415G>A	c.(415-417)GCC>ACC	p.A139T		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	139	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CTTCGGCGACGCCGGCTGCCG	0.687													A	61340974	G	A	61340974	3	1	152	1	0	0	0	0	1	0	0	0	10710	1087	38	1	417	1	NTSR1	20	61340974	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	5150985	61340974	1684546	1011	82828											
COL9A3	1299	broad.mit.edu	37	chr20	61460839	61460839	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgagcggggtccaaaggcgaGaagggagaacgggtatgtgg	20	6	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:61460839G>T	uc002ydm.2	+	20	1044	c.1041G>T	c.(1039-1041)GAG>GAT	p.E347D		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	347	Triple-helical region 3 (COL3).				axon guidance	collagen type IX					0	Breast(26;5.68e-08)					CCAAAGGCGAGAAGGGAGAAC	0.701													T	61460839	G	T	61460839	3	4	152	1	0	0	0	0	1	0	0	0	3709	933	33	5	1119	5	COL9A3	20	61460839	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	119865	61460839	1564681	1012	82829											
COL20A1	57642	broad.mit.edu	37	chr20	61937277	61937277	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggacaggagcagccagaggCccctcggctctggagccccg	15	15	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:61937277C>A	uc011aau.1	+	5	482	c.382C>A	c.(382-384)CCC>ACC	p.P128T	COL20A1_uc011aav.1_5'Flank	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	128					cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					CAGCCAGAGGCCCCTCGGCTC	0.652													A	61937277	C	A	61937277	3	1	152	1	0	0	0	0	1	0	0	0	3679	739	26	5	396	5	COL20A1	20	61937277	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	476438	61937277	1088243	1013	82830											
EEF1A2	1917	broad.mit.edu	37	chr20	62126331	62126331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccattttgttcacgcccaCgatgagctgcttcacaccca	7	15	2	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:62126331C>T	uc002yfd.1	-	3	549	c.448G>A	c.(448-450)GTG>ATG	p.V150M	EEF1A2_uc002yfe.1_Missense_Mutation_p.V150M|EEF1A2_uc010gkg.1_Missense_Mutation_p.V150M	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	150						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TTCACGCCCACGATGAGCTGC	0.617													T	62126331	C	T	62126331	3	4	152	1	0	0	0	0	1	0	0	0	4924	536	19	1	963	1	EEF1A2	20	62126331	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	189054	62126331	899189	1014	82831											
ADAMTS5	11096	broad.mit.edu	37	chr21	28338436	28338436	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaacctccggccgcccgcgTagacgaggtagcccaccttg	13	16	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr21:28338436T>C	uc002ymg.2	-	1	1004	c.275A>G	c.(274-276)TAC>TGC	p.Y92C		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	92					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						GCCGCCCGCGTAGACGAGGTA	0.706													C	28338436	T	C	28338436	3	2	152	1	0	0	0	0	1	0	0	0	269	1638	57	3	2549	3	ADAMTS5	21	28338436	Missense_Mutation	SNP	T	TCGA-CD-8536-01A-11D-2340-08		28338436	19791459	1015	82832											
GCFC1	94104	broad.mit.edu	37	chr21	34109677	34109677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagaaatagtcctttctcCtttcagattcatgaaccatt	5	10	3	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr21:34109677C>T	uc002yqn.2	-	17	2714	c.2524G>A	c.(2524-2526)GGA>AGA	p.G842R	uc002yqk.2_Intron|GCFC1_uc002yql.2_Missense_Mutation_p.G351R|GCFC1_uc002yqm.2_Missense_Mutation_p.G336R|GCFC1_uc002yqo.2_RNA	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	GC-rich sequence DNA-binding factor candidate	842						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						GTCCTTTCTCCTTTCAGATTC	0.323													T	34109677	C	T	34109677	3	4	152	1	0	0	0	0	1	0	0	0	6289	690	24	4	237	4	GCFC1	21	34109677	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	5771241	34109677	14020218	1016	82833											
DYRK1A	1859	broad.mit.edu	37	chr21	38862643	38862643	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgcactgcttttccttgcGactccagaacttagtatcat	6	12	1	1	rs138086853	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr21:38862643G>A	uc002ywk.2	+	6	906	c.831G>A	c.(829-831)GCG>GCA	p.A277A	DYRK1A_uc002ywi.2_Silent_p.A277A|DYRK1A_uc002ywj.2_Silent_p.A268A|DYRK1A_uc002ywl.2_Silent_p.A277A|DYRK1A_uc002ywm.2_Silent_p.A277A|DYRK1A_uc011aei.1_Silent_p.A38A	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	277	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			ovary(2)|lung(1)|breast(1)	4						TTTTCCTTGCGACTCCAGAAC	0.428													A	38862643	G	A	38862643	2	1	152	1	0	0	0	0	0	0	0	1	4854	1045	37	1		1	DYRK1A	21	38862643	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	4752966	38862643	9267252	1017	82834											
ZNF295	49854	broad.mit.edu	37	chr21	43413028	43413028	+	Frame_Shift_Del	DEL	T	T	-													aggcctgtcatctagggctgTtttttcactacaatctttta							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr21:43413028delT	uc002zab.3	-	3	1391	c.1177delA	c.(1177-1179)ACAfs	p.T393fs	ZNF295_uc002yzz.3_Frame_Shift_Del_p.T393fs|ZNF295_uc002yzy.3_Frame_Shift_Del_p.T393fs|ZNF295_uc002zaa.3_Frame_Shift_Del_p.T393fs|ZNF295_uc010gov.1_Frame_Shift_Del_p.T393fs|ZNF295_uc002zac.2_Frame_Shift_Del_p.T393fs	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	393					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						TCTAGGGCTGTTTTTTCACTA	0.483													-	43413028	T	-	43413028	7	5	152	1	0	1	0	1	0	0	0	0	17824	1725	60	0	2027	0	ZNF295	21	43413028	Frame_Shift_Del	DEL	T	TCGA-CD-8536-01A-11D-2340-08	4550385	43413028	4716867	1018	82835											
UMODL1	89766	broad.mit.edu	37	chr21	43543205	43543205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacgtgagccacagcaatgGcacacacgtgctcctggagg	12	13	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr21:43543205G>A	uc002zaf.1	+	17	3092	c.3092G>A	c.(3091-3093)GGC>GAC	p.G1031D	UMODL1_uc002zad.1_Missense_Mutation_p.G959D|UMODL1_uc002zae.1_Missense_Mutation_p.G1087D|UMODL1_uc002zag.1_Missense_Mutation_p.G1159D|UMODL1_uc002zal.1_5'UTR	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	1031	Extracellular (Potential).|ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						CACAGCAATGGCACACACGTG	0.617													A	43543205	G	A	43543205	3	1	152	1	0	0	0	0	1	0	0	0	16977	1203	42	2	3538	2	UMODL1	21	43543205	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	130177	43543205	4586690	1019	82836											
C21orf29	54084	broad.mit.edu	37	chr21	45953725	45953725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcgaaggaacaggaagtGcagctgggcaggtgacaacc	15	10	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr21:45953725G>A	uc002zfe.1	-	3	451	c.385C>T	c.(385-387)CAC>TAC	p.H129Y	C21orf29_uc010gpv.1_Missense_Mutation_p.H61Y	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	129	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity				0						AACAGGAAGTGCAGCTGGGCA	0.682													A	45953725	G	A	45953725	3	1	152	1	0	0	0	0	1	0	0	0	2124	1319	46	2	1664	2	C21orf29	21	45953725	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	2410520	45953725	2176170	1020	82837											
ITGB2	3689	broad.mit.edu	37	chr21	46321416	46321416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggcctcaccgggcaggcGgcgacctgcatcatggcgtc	15	15	2	0	rs146557638	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr21:46321416G>A	uc002zgd.2	-	5	776	c.732C>T	c.(730-732)GCC>GCT	p.A244A	ITGB2_uc002zge.2_Silent_p.A244A|ITGB2_uc002zgf.3_Silent_p.A244A|ITGB2_uc011afl.1_Silent_p.A166A|ITGB2_uc010gpw.2_Silent_p.A187A|ITGB2_uc002zgg.2_Silent_p.A244A	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	244	Extracellular (Potential).|VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCGGGCAGGCGGCGACCTGCA	0.677													A	46321416	G	A	46321416	2	1	152	1	0	0	0	0	0	0	0	1	7894	1103	39	1		1	ITGB2	21	46321416	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	367691	46321416	1808479	1021	82838											
COL6A2	1292	broad.mit.edu	37	chr21	47531966	47531966	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaccatgcagtcccccacGgacatcctgctcttccacat	6	18	2	0	rs143583433	by1000genomes	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr21:47531966G>A	uc002zia.1	+	3	271	c.189G>A	c.(187-189)ACG>ACA	p.T63T	COL6A2_uc002zhy.1_Silent_p.T63T|COL6A2_uc002zhz.1_Silent_p.T63T|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	63	VWFA 1.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGTCCCCCACGGACATCCTGC	0.612													A	47531966	G	A	47531966	2	1	152	1	0	0	0	0	0	0	0	1	3700	1103	39	1		1	COL6A2	21	47531966	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	1210550	47531966	597929	1022	82839											
MCM3AP	8888	broad.mit.edu	37	chr21	47663397	47663398	+	Frame_Shift_Ins	INS	-	-	G													cctgatgtaacaggaagccgINSggggggcgtccagtctctca					rs34589822	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr21:47663396_47663397C>CG	uc002zir.1	-	23	5314_5315	c.5278_5279G>CG	c.(5278-5280)cggfs	p.R1760fs	MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Frame_Shift_Ins_p.R255fs|MCM3AP_uc002zip.1_Frame_Shift_Ins_p.R501fs|MCM3AP_uc002ziq.1_Frame_Shift_Ins_p.R687fs|MCM3AP-AS1_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1760					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.P1759P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AACAGGAAGCCGGGGGGGCGTC	0.525													G	47663398	-	G	47663397	7	5	152	1	0	1	1	0	0	0	0	0	9388	1115	39	0	684	0	MCM3AP	21	47663397	Frame_Shift_Ins	INS	-	TCGA-CD-8536-01A-11D-2340-08	131431	47663397	466498	1023	82840											
CCT8L2	150160	broad.mit.edu	37	chr22	17073169	17073169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggtttgtcctgcttccCggaggagccatgctgctggg	15	12	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:17073169C>T	uc002zlp.1	-	1	532	c.272G>A	c.(271-273)CGG>CAG	p.R91Q		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	91					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCCTGCTTCCCGGAGGAGCCA	0.602													T	17073169	C	T	17073169	3	4	152	1	0	0	0	0	1	0	0	0	2961	652	23	1	1405	1	CCT8L2	22	17073169	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08		17073169	34231397	1024	82841											
TRMT2A	27037	broad.mit.edu	37	chr22	20100513	20100513	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcttagctctccggatggCcaggatcaccttggaatctg	11	11	4	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:20100513C>A	uc002zrk.1	-	12	1782	c.1567G>T	c.(1567-1569)GCC>TCC	p.A523S	TRMT2A_uc002zrl.1_Missense_Mutation_p.A523S|TRMT2A_uc002zrm.1_Missense_Mutation_p.A345S|TRMT2A_uc002zrn.1_Missense_Mutation_p.A541S	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	HpaII tiny fragments locus 9C	523					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(1)	1						CTCCGGATGGCCAGGATCACC	0.602													A	20100513	C	A	20100513	3	1	152	1	0	0	0	0	1	0	0	0	16562	739	26	5	318	5	TRMT2A	22	20100513	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	3027344	20100513	31204053	1025	82842											
HIC2	23119	broad.mit.edu	37	chr22	21801009	21801009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacctcatcagccacctgCgcatgcacacctccccctcc	5	22	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:21801009C>T	uc002zur.3	+	3	2055	c.1825C>T	c.(1825-1827)CGC>TGC	p.R609C	HIC2_uc002zus.3_Missense_Mutation_p.R609C	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	609	C2H2-type 5.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CAGCCACCTGCGCATGCACAC	0.642													T	21801009	C	T	21801009	3	4	152	1	0	0	0	0	1	0	0	0	7102	768	27	1	1831	1	HIC2	22	21801009	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1700496	21801009	29503557	1026	82843											
OSM	5008	broad.mit.edu	37	chr22	30659979	30659979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggctgtgtctccggctccGgttcgggctctccccccact	13	17	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:30659979G>A	uc003ahb.2	-	3	704	c.652C>T	c.(652-654)CGG>TGG	p.R218W		NM_020530	NP_065391	P13725	ONCM_HUMAN	oncostatin M precursor	218					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			skin(1)	1			Epithelial(10;0.206)			CTCCGGCTCCGGTTCGGGCTC	0.642													A	30659979	G	A	30659979	3	1	152	1	0	0	0	0	1	0	0	0	11291	1115	39	1	110	1	OSM	22	30659979	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	8858970	30659979	20644587	1027	82844											
TBC1D10A	83874	broad.mit.edu	37	chr22	30690081	30690081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgagaaaaggatctcccCgtccagctggatcgcctcct	10	15	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:30690081C>T	uc011akt.1	-	7	748	c.724G>A	c.(724-726)GGG>AGG	p.G242R	GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_Missense_Mutation_p.G100R|TBC1D10A_uc003ahj.3_Missense_Mutation_p.G154R|TBC1D10A_uc010gvu.2_Missense_Mutation_p.G249R|TBC1D10A_uc003ahk.3_Missense_Mutation_p.G242R	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	242	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			ovary(1)	1						AGGATCTCCCCGTCCAGCTGG	0.552													T	30690081	C	T	30690081	3	4	152	1	0	0	0	0	1	0	0	0	15595	652	23	1	814	1	TBC1D10A	22	30690081	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	30102	30690081	20614485	1028	82845											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951338	30951338	+	Frame_Shift_Del	DEL	C	C	-													ggtggcgcgcccatacagctCccccgagagccgcggcacgg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:30951337_30951337TC>T	uc003aig.1	-	3	1015	c.875_875GA>A	c.(874-876)gagfs	p.E292fs	GAL3ST1_uc003aih.1_Frame_Shift_Del_p.E292fs|GAL3ST1_uc003aii.1_Frame_Shift_Del_p.E292fs|GAL3ST1_uc010gvz.1_Frame_Shift_Del_p.E292fs	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	292					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CCCATACAGCTCCCCCGAGAG	0.677													-	30951338	C	-	30951338	7	5	152	1	0	1	0	1	0	0	0	0	6197	864	30	0	401	0	GAL3ST1	22	30951338	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	261257	30951338	20353228	1029	82846											
PATZ1	23598	broad.mit.edu	37	chr22	31723045	31723045	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtcccccagggggcccccGagagcccggacatgcacctt	13	17	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:31723045G>A	uc003akq.2	-	5	2557	c.1896C>T	c.(1894-1896)CTC>CTT	p.L632L	PATZ1_uc003akp.2_3'UTR|PATZ1_uc003akr.2_Silent_p.L586L	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	632					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2						GGGGGCCCCCGAGAGCCCGGA	0.562													A	31723045	G	A	31723045	2	1	152	1	0	0	0	0	0	0	0	1	11476	1045	37	1		1	PATZ1	22	31723045	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	771707	31723045	19581521	1030	82847											
FBXO7	25793	broad.mit.edu	37	chr22	32879930	32879930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtcaattcaagataatgCgcatatggcagagggcacag	12	7	2	3	rs61730784		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:32879930C>T	uc003amq.2	+	3	747	c.464C>T	c.(463-465)GCG>GTG	p.A155V	FBXO7_uc003amp.1_Missense_Mutation_p.A41V|FBXO7_uc003amr.2_Missense_Mutation_p.A41V|FBXO7_uc003ams.2_5'UTR|FBXO7_uc003amt.2_Missense_Mutation_p.A76V|FBXO7_uc003amu.2_Missense_Mutation_p.A41V	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	F-box only protein 7 isoform 1	155					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)	1						CAAGATAATGCGCATATGGCA	0.383													T	32879930	C	T	32879930	3	4	152	1	0	0	0	0	1	0	0	0	5760	768	27	1	515	1	FBXO7	22	32879930	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1156885	32879930	18424636	1031	82848											
APOL6	80830	broad.mit.edu	37	chr22	36055096	36055096	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaggaagagaaggcagActatgtcacagctgctggaa	15	6	1	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:36055096A>G	uc003aoe.2	+	3	779	c.485A>G	c.(484-486)GAC>GGC	p.D162G	APOL6_uc003aod.2_RNA	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	apolipoprotein L6	162					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity				0						GAGAAGGCAGACTATGTCACA	0.473													G	36055096	A	G	36055096	3	3	152	1	0	0	0	0	1	0	0	0	810	275	10	3	491	3	APOL6	22	36055096	Missense_Mutation	SNP	A	TCGA-CD-8536-01A-11D-2340-08	3175166	36055096	15249470	1032	82849											
MYH9	4627	broad.mit.edu	37	chr22	36702008	36702008	+	Frame_Shift_Del	DEL	G	G	-													tcctggaagaccaccctgttGgggaagccctggcggcagat							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:36702007_36702007TG>T	uc003apg.3	-	16	2359	c.2128_2128CA>A	c.(2128-2130)aacfs	p.N710fs	MYH9_uc003aph.1_Frame_Shift_Del_p.N574fs	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	710	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACCACCCTGTTGGGGAAGCCC	0.662			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				-	36702008	G	-	36702008	7	5	152	1	0	1	0	1	0	0	0	0	10042	1335	47	0	3855	0	MYH9	22	36702008	Frame_Shift_Del	DEL	G	TCGA-CD-8536-01A-11D-2340-08	646912	36702008	14602558	1033	82850											
SSTR3	6753	broad.mit.edu	37	chr22	37603678	37603678	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacccagcaggcccaccacGcacaccaccaggtagaccag	8	18	0	1	rs142559355		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:37603678G>A	uc003ara.2	-	2	227	c.165C>T	c.(163-165)TGC>TGT	p.C55C	SSTR3_uc003arb.2_Silent_p.C55C	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	55	Helical; Name=1; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1						GGCCCACCACGCACACCACCA	0.667													A	37603678	G	A	37603678	2	1	152	1	0	0	0	0	0	0	0	1	15198	1079	38	1		1	SSTR3	22	37603678	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	901670	37603678	13700888	1034	82851											
ELFN2	114794	broad.mit.edu	37	chr22	37770721	37770721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggtggacgaggccggcGgctccaccgaaaggatctcg	16	13	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:37770721G>A	uc003asq.3	-	3	1640	c.854C>T	c.(853-855)CCG>CTG	p.P285L		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	285	Extracellular (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					CGAGGCCGGCGGCTCCACCGA	0.687													A	37770721	G	A	37770721	3	1	152	1	0	0	0	0	1	0	0	0	5058	1116	39	1	1612	1	ELFN2	22	37770721	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	167043	37770721	13533845	1035	82852											
DDX17	10521	broad.mit.edu	37	chr22	38895435	38895435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatgatggaaggcaaacaCgggtttaggacaaacatctc	11	8	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:38895435C>T	uc003avy.3	-	3	611	c.508G>A	c.(508-510)GTG>ATG	p.V170M	DDX17_uc003avx.3_Missense_Mutation_p.V170M|DDX17_uc011anu.1_Missense_Mutation_p.V83M	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	DEAD box polypeptide 17 isoform 3	91					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			skin(3)|upper_aerodigestive_tract(1)	4	Melanoma(58;0.0286)					AAGGCAAACACGGGTTTAGGA	0.398													T	38895435	C	T	38895435	3	4	152	1	0	0	0	0	1	0	0	0	4344	536	19	1	1731	1	DDX17	22	38895435	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1124714	38895435	12409131	1036	82853											
RPL3	6122	broad.mit.edu	37	chr22	39710798	39710798	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatacaggccaccttgcgcaGgcctcggtgggtcttgcggg	15	12	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:39710798G>T	uc003axi.2	-	6	810	c.742C>A	c.(742-744)CTG>ATG	p.L248M	RPL3_uc003axh.2_Missense_Mutation_p.L199M|RPL3_uc003axj.2_Missense_Mutation_p.L96M|RPL3_uc010gxx.2_Missense_Mutation_p.L196M|RPL3_uc003axg.2_Missense_Mutation_p.L196M|RPL3_uc003axk.1_Missense_Mutation_p.L96M	NM_000967	NP_000958	P39023	RL3_HUMAN	ribosomal protein L3 isoform a	248					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(1)	2	Melanoma(58;0.04)					ACCTTGCGCAGGCCTCGGTGG	0.602													T	39710798	G	T	39710798	3	4	152	1	0	0	0	0	1	0	0	0	13579	991	35	5	489	5	RPL3	22	39710798	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	815363	39710798	11593768	1037	82854											
GRAP2	9402	broad.mit.edu	37	chr22	40364053	40364053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctttctcccagggtcaccGgggcaacagcctggaccgga	12	14	3	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:40364053G>A	uc003ayh.1	+	6	730	c.467G>A	c.(466-468)CGG>CAG	p.R156Q	GRAP2_uc003ayi.2_RNA|GRAP2_uc011aom.1_Missense_Mutation_p.R130Q|GRAP2_uc011aon.1_Missense_Mutation_p.R90Q|GRAP2_uc010gya.1_Missense_Mutation_p.R156Q|GRAP2_uc011aoo.1_Missense_Mutation_p.R84Q|GRAP2_uc011aop.1_Missense_Mutation_p.R116Q|GRAP2_uc011aoq.1_Missense_Mutation_p.R43Q|GRAP2_uc003ayj.1_Missense_Mutation_p.R156Q	NM_004810	NP_004801	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	156					cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						CAGGGTCACCGGGGCAACAGC	0.612													A	40364053	G	A	40364053	3	1	152	1	0	0	0	0	1	0	0	0	6754	1116	39	1	485	1	GRAP2	22	40364053	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	653255	40364053	10940513	1038	82855											
CYP2D6	1565	broad.mit.edu	37	chr22	42524821	42524821	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgactcctccttcagtccctCctgagctaggtccagcagcc	8	18	1	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:42524821C>A	uc003bce.2	-	4	721	c.631G>T	c.(631-633)GAG>TAG	p.E211*	uc003bcd.1_Intron|CYP2D6_uc010gyu.2_5'UTR|CYP2D6_uc003bcf.2_Nonsense_Mutation_p.E160*	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,	211							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			breast(1)|skin(1)	2						TTCAGTCCCTCCTGAGCTAGG	0.662													A	42524821	C	A	42524821	4	1	152	1	0	0	0	0	0	1	0	0	4169	864	30	5	886	5	CYP2D6	22	42524821	Nonsense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	2160768	42524821	8779745	1039	82856											
RRP7A	27341	broad.mit.edu	37	chr22	42911183	42911184	+	Frame_Shift_Del	DEL	CT	CT	-													tgccactcttcacagggtggCtctctgtggacaccagcagg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:42911183_42911184delCT	uc003bcq.2	-	4	449_450	c.433_434delAG	c.(433-435)AGCfs	p.S145fs	SERHL_uc011apm.1_Intron|RRP7A_uc003bcp.2_Frame_Shift_Del_p.S168fs	NM_015703	NP_056518	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A	145							nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2						CACAGGGTGGCTCTCTGTGGAC	0.604													-	42911184	CT	-	42911183	7	5	152	1	0	1	0	1	0	0	0	0	13689	797	28	0	424	0	RRP7A	22	42911183	Frame_Shift_Del	DEL	CT	TCGA-CD-8536-01A-11D-2340-08	386362	42911183	8393383	1040	82857											
SELO	83642	broad.mit.edu	37	chr22	50655637	50655637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcctgatcctccaggtgCggcgggtgctgaaactactg	12	14	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:50655637C>T	uc011arr.1	+	9	1907	c.1849C>T	c.(1849-1851)CGG>TGG	p.R617W	SELO_uc010hap.2_Missense_Mutation_p.R428W|SELO_uc003bjy.2_Missense_Mutation_p.R297W|SELO_uc003bjz.2_Missense_Mutation_p.R368W	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN	selenoprotein O	617											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)		CCTCCAGGTGCGGCGGGTGCT	0.711													T	50655637	C	T	50655637	3	4	152	1	0	0	0	0	1	0	0	0	14018	759	27	1	1883	1	SELO	22	50655637	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	7744454	50655637	648929	1041	82858											
TUBGCP6	85378	broad.mit.edu	37	chr22	50660487	50660487	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgctcaagaggacgtctggCggctcctggggctggtgagc	17	11	2	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:50660487C>T	uc003bkb.1	-	15	2966	c.2454G>A	c.(2452-2454)CCG>CCA	p.P818P	TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Silent_p.P810P|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_Silent_p.P14P	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	818					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGACGTCTGGCGGCTCCTGGG	0.607													T	50660487	C	T	50660487	2	4	152	1	0	0	0	0	0	0	0	1	16767	755	27	1		1	TUBGCP6	22	50660487	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	4850	50660487	644079	1042	82859											
SBF1	6305	broad.mit.edu	37	chr22	50885799	50885799	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaggggcacccatagtgggCgtgccaggtgccacagcctc	14	13	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:50885799C>T	uc003blh.2	-	40	5730	c.5535G>A	c.(5533-5535)ACG>ACA	p.T1845T	SBF1_uc003ble.2_Silent_p.T309T|SBF1_uc003blf.2_Silent_p.T321T|SBF1_uc011arx.1_Silent_p.T1483T	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1819	PH.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCATAGTGGGCGTGCCAGGTG	0.647													T	50885799	C	T	50885799	2	4	152	1	0	0	0	0	0	0	0	1	13858	755	27	1		1	SBF1	22	50885799	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	225312	50885799	418767	1043	82860											
MXRA5	25878	broad.mit.edu	37	chrX	3228381	3228381	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctctccgtgtggccagcGgcattgcgggccacgcagcg	15	15	1	0	rs144105162	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:3228381G>A	uc004crg.3	-	7	8020	c.7863C>T	c.(7861-7863)GCC>GCT	p.A2621A		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2621	Ig-like C2-type 10.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGTGGCCAGCGGCATTGCGGG	0.602													A	3228381	G	A	3228381	2	1	152	1	0	0	0	0	0	0	0	1	10003	1103	39	1		1	MXRA5	23	3228381	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08		3228381	152042179	1044	82861											
TMEM27	57393	broad.mit.edu	37	chrX	15657776	15657776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatataataatccagatggGcacagatgggtccatgggtg	12	6	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:15657776G>A	uc004cxc.1	-	5	677	c.421C>T	c.(421-423)CCC>TCC	p.P141S		NM_020665	NP_065716	Q9HBJ8	TMM27_HUMAN	transmembrane protein 27 precursor	141	Extracellular (Potential).				proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity			ovary(1)	1	Hepatocellular(33;0.183)					ATCCAGATGGGCACAGATGGG	0.393													A	15657776	G	A	15657776	3	1	152	1	0	0	0	0	1	0	0	0	16149	1203	42	2	255	2	TMEM27	23	15657776	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	12429395	15657776	139612784	1045	82862											
SMS	6611	broad.mit.edu	37	chrX	21995195	21995195	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagattaccacccatagtgCgaggaggagccatcgacaga	11	12	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:21995195C>T	uc004dag.2	+	5	447	c.346C>T	c.(346-348)CGA>TGA	p.R116*	SMS_uc011mjq.1_Nonsense_Mutation_p.R20*|SMS_uc004daf.1_Nonsense_Mutation_p.R63*|SMS_uc010nfs.2_5'Flank|SMS_uc010nft.2_5'Flank	NM_004595	NP_004586	P52788	SPSY_HUMAN	spermine synthase	116					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			ovary(1)	1					Spermine(DB00127)	ACCCATAGTGCGAGGAGGAGC	0.453													T	21995195	C	T	21995195	4	4	152	1	0	0	0	0	0	1	0	0	14813	760	27	1	364	1	SMS	23	21995195	Nonsense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	6337419	21995195	133275365	1046	82863											
KDM6A	7403	broad.mit.edu	37	chrX	44949994	44949994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtataaattggcagtggaaCggtacgaatggaacaaattg	12	4	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:44949994C>T	uc004dge.3	+	26	4138	c.3763C>T	c.(3763-3765)CGG>TGG	p.R1255W	KDM6A_uc011mkz.1_Missense_Mutation_p.R1307W|KDM6A_uc011mla.1_Missense_Mutation_p.R1210W|KDM6A_uc011mlb.1_Missense_Mutation_p.R1262W|KDM6A_uc011mlc.1_Missense_Mutation_p.R959W|KDM6A_uc011mld.1_Missense_Mutation_p.R894W	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	1255	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						GGCAGTGGAACGGTACGAATG	0.388			D|N|F|S		renal|oesophageal SCC|MM								T	44949994	C	T	44949994	3	4	152	1	0	0	0	0	1	0	0	0	8137	527	19	1	3865	1	KDM6A	23	44949994	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	22954799	44949994	110320566	1047	82864											
SLC9A7	84679	broad.mit.edu	37	chrX	46618279	46618279	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccggtggctctcctccgcCtccttctcagtagcgagctc	10	17	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:46618279C>A	uc004dgu.1	-	1	194	c.186G>T	c.(184-186)GAG>GAT	p.E62D	SLC9A7_uc004dgv.1_Missense_Mutation_p.E62D	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	solute carrier family 9, member 7	62					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			ovary(2)	2						TCTCCTCCGCCTCCTTCTCAG	0.682													A	46618279	C	A	46618279	3	1	152	1	0	0	0	0	1	0	0	0	14719	680	24	5	2059	5	SLC9A7	23	46618279	Missense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	1668285	46618279	108652281	1048	82865											
UBQLN2	29978	broad.mit.edu	37	chrX	56591874	56591874	+	Frame_Shift_Del	DEL	C	C	-													aggacccactggccctgcagCcccccctggctccaccggct							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:56591874delC	uc004dus.2	+	1	1803	c.1568delC	c.(1567-1569)GCCfs	p.A523fs	UBQLN2_uc011moq.1_Intron	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	523	11.|12 X 3 AA tandem repeats of P-X-X.					cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2						GGCCCTGCAGCCCCCCCTGGC	0.642													-	56591874	C	-	56591874	7	5	152	1	0	1	0	1	0	0	0	0	16894	739	26	0	1570	0	UBQLN2	23	56591874	Frame_Shift_Del	DEL	C	TCGA-CD-8536-01A-11D-2340-08	9973595	56591874	98678686	1049	82866											
NLGN3	54413	broad.mit.edu	37	chrX	70389350	70389350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaccaaagtgccgcctccGgataccacccacagctccca	6	20	0	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:70389350G>A	uc004dzb.2	+	7	2194	c.1890G>A	c.(1888-1890)CCG>CCA	p.P630P	NLGN3_uc004dzc.2_Silent_p.P513P|NLGN3_uc011mps.1_Silent_p.P610P|NLGN3_uc004dze.2_Silent_p.P448P	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	650	Extracellular (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)					TGCCGCCTCCGGATACCACCC	0.587													A	70389350	G	A	70389350	2	1	152	1	0	0	0	0	0	0	0	1	10463	1103	39	1		1	NLGN3	23	70389350	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	13797476	70389350	84881210	1050	82867											
GJB1	2705	broad.mit.edu	37	chrX	70444365	70444365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgccgcagccctggcaccGgggctgggctggctgaaaag	17	13	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:70444365G>A	uc004dzf.3	+	2	903	c.808G>A	c.(808-810)GGG>AGG	p.G270R	BCYRN1_uc011mpt.1_Intron|GJB1_uc004dzg.3_Missense_Mutation_p.G270R	NM_001097642	NP_001091111	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	270	Cytoplasmic (Probable).				cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity			breast(1)	1	Renal(35;0.156)					CCCTGGCACCGGGGCTGGGCT	0.637													A	70444365	G	A	70444365	3	1	152	1	0	0	0	0	1	0	0	0	6407	1116	39	1	810	1	GJB1	23	70444365	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	55015	70444365	84826195	1051	82868											
MAGEE1	57692	broad.mit.edu	37	chrX	75649082	75649082	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgccacccacccgtgaTgagggaccgagcacctccgt	11	18	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:75649082T>C	uc004ecm.1	+	1	966	c.759T>C	c.(757-759)GAT>GAC	p.D253D		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	253	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						CCACCCGTGATGAGGGACCGA	0.692													C	75649082	T	C	75649082	2	2	152	1	0	0	0	0	0	0	0	1	9185	1461	51	3		3	MAGEE1	23	75649082	Silent	SNP	T	TCGA-CD-8536-01A-11D-2340-08	5204717	75649082	79621478	1052	82869											
BRWD3	254065	broad.mit.edu	37	chrX	79943586	79943586	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctttcttccagatgaagtAccaggaccgtctgaatctaa	7	11	3	3			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:79943586A>G	uc004edt.2	-	34	4109	c.3846T>C	c.(3844-3846)GGT>GGC	p.G1282G	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Silent_p.G878G|BRWD3_uc004edp.2_Silent_p.G1111G|BRWD3_uc004edq.2_Silent_p.G878G|BRWD3_uc010nmj.1_Silent_p.G878G|BRWD3_uc004edr.2_Silent_p.G952G|BRWD3_uc004eds.2_Silent_p.G878G|BRWD3_uc004edu.2_Silent_p.G952G|BRWD3_uc004edv.2_Silent_p.G878G|BRWD3_uc004edw.2_Silent_p.G878G|BRWD3_uc004edx.2_Silent_p.G878G|BRWD3_uc004edy.2_Silent_p.G878G|BRWD3_uc004edz.2_Silent_p.G952G|BRWD3_uc004eea.2_Silent_p.G952G|BRWD3_uc004eeb.2_Silent_p.G878G	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1282										ovary(4)	4						CAGATGAAGTACCAGGACCGT	0.284													G	79943586	A	G	79943586	2	3	152	1	0	0	0	0	0	0	0	1	1526	378	14	3		3	BRWD3	23	79943586	Silent	SNP	A	TCGA-CD-8536-01A-11D-2340-08	4294504	79943586	75326974	1053	82870											
DIAPH2	1730	broad.mit.edu	37	chrX	96212916	96212916	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcctccaccaccacccgcGccacctctacccggaggagc	8	23	1	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:96212916G>A	uc004efu.3	+	16	2100	c.1704G>A	c.(1702-1704)GCG>GCA	p.A568A	DIAPH2_uc004eft.3_Silent_p.A568A	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	568	Poly-Pro.|FH1.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						CACCACCCGCGCCACCTCTAC	0.567													A	96212916	G	A	96212916	2	1	152	1	0	0	0	0	0	0	0	1	4519	1074	38	1		1	DIAPH2	23	96212916	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	16269330	96212916	59057644	1054	82871											
LUZP4	51213	broad.mit.edu	37	chrX	114537966	114537966	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaacaccctttaaatgggCagcctttaattgagcaggta	9	9	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:114537966C>T	uc004eqa.2	+	3	359	c.325C>T	c.(325-327)CAG>TAG	p.Q109*	LUZP4_uc004eqb.2_Intron	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	109						nucleus				ovary(2)	2						TTTAAATGGGCAGCCTTTAAT	0.328													T	114537966	C	T	114537966	4	4	152	1	0	0	0	0	0	1	0	0	9088	711	25	2	335	2	LUZP4	23	114537966	Nonsense_Mutation	SNP	C	TCGA-CD-8536-01A-11D-2340-08	18325050	114537966	40732594	1055	82872											
ZNF280C	55609	broad.mit.edu	37	chrX	129349216	129349216	+	Frame_Shift_Del	DEL	A	A	-													acagttagtattgtacttgcAaaaactgcagtggatgtata							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:129349216delA	uc004evm.2	-	15	2084	c.1930delT	c.(1930-1932)TGCfs	p.C644fs	ZNF280C_uc010nrf.1_Frame_Shift_Del_p.C595fs	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	644					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3						TTGTACTTGCAAAAACTGCAG	0.353													-	129349216	A	-	129349216	7	5	152	1	0	1	0	1	0	0	0	0	17813	130	5	0	303	0	ZNF280C	23	129349216	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	14811250	129349216	25921344	1056	82873											
MAGEC2	51438	broad.mit.edu	37	chrX	141290907	141290907	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatggaggagaactgtggggCacctcccgatactccaggta	13	10	0	1			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:141290907C>A	uc004fbu.1	-	3	1215	c.867G>T	c.(865-867)GTG>GTT	p.V289V		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	289	MAGE.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					AACTGTGGGGCACCTCCCGAT	0.502										HNSCC(46;0.14)			A	141290907	C	A	141290907	2	1	152	1	0	0	0	0	0	0	0	1	9181	697	25	5		5	MAGEC2	23	141290907	Silent	SNP	C	TCGA-CD-8536-01A-11D-2340-08	11941691	141290907	13979653	1057	82874											
FMR1	2332	broad.mit.edu	37	chrX	147010200	147010200	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgtgatagaatatgcagcAtgtgatgcaacttacaatga	9	5	0	4			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:147010200A>G	uc010nst.2	+	5	483	c.294A>G	c.(292-294)GCA>GCG	p.A98A	FMR1_uc011mwz.1_Silent_p.A98A|FMR1_uc004fcj.2_Silent_p.A98A|FMR1_uc004fck.3_Silent_p.A98A|FMR1_uc004fcl.3_5'UTR|FMR1_uc011mxa.1_5'Flank	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	98					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					AATATGCAGCATGTGATGCAA	0.313									Fragile_X_syndrome				G	147010200	A	G	147010200	2	3	152	1	0	0	0	0	0	0	0	1	5960	204	8	3		3	FMR1	23	147010200	Silent	SNP	A	TCGA-CD-8536-01A-11D-2340-08	5719293	147010200	8260360	1058	82875											
AFF2	2334	broad.mit.edu	37	chrX	147733548	147733548	+	Frame_Shift_Del	DEL	A	A	-													aacaagaccgtagtgcacttAaaaaaagggaatgggagcgg							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:147733547_147733547TA>T	uc004fcp.3	+	1	554	c.75_75TA>T	c.(73-75)cttfs	p.L25fs	AFF2_uc004fco.3_Frame_Shift_Del_p.L25fs|AFF2_uc004fcq.3_Frame_Shift_Del_p.L25fs|AFF2_uc004fcr.3_Frame_Shift_Del_p.L25fs|AFF2_uc011mxb.2_Frame_Shift_Del_p.L25fs|AFF2_uc004fcs.3_Frame_Shift_Del_p.L25fs	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	25					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GTAGTGCACTTAAAAAAAGGG	0.378													-	147733548	A	-	147733548	7	5	152	1	0	1	0	1	0	0	0	0	357	363	13	0	82	0	AFF2	23	147733548	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08	723348	147733548	7537012	1059	82876											
ARHGAP4	393	broad.mit.edu	37	chrX	153173237	153173237	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtgggaagctgagggtgaGgctggggccccagggccccg	22	10	0	2			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:153173237G>T	uc004fjk.1	-	22	2829	c.2787C>A	c.(2785-2787)GCC>GCA	p.A929A	ARHGAP4_uc004fjj.1_Silent_p.A280A|ARHGAP4_uc011mzf.1_Silent_p.A906A|ARHGAP4_uc004fjl.1_Silent_p.A969A|ARHGAP4_uc010nup.1_RNA	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2	929					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGAGGGTGAGGCTGGGGCCC	0.716													T	153173237	G	T	153173237	2	4	152	1	0	0	0	0	0	0	0	1	885	987	35	5		5	ARHGAP4	23	153173237	Silent	SNP	G	TCGA-CD-8536-01A-11D-2340-08	5439689	153173237	2097323	1060	82877											
CTAG2	30848	broad.mit.edu	37	chrX	153880628	153880628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgggtggcggcgggcctgGtgtaccaggtctctgttctg	17	11	2	0			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:153880628G>A	uc004fmi.1	-	2	600	c.547C>T	c.(547-549)CCA>TCA	p.P183S	CTAG2_uc004fmh.1_Intron	NM_020994	NP_066274	O75638	CTAG2_HUMAN	cancer/testis antigen 2 isoform LAGE-1b	183	Poly-Pro.					centrosome				pancreas(1)	1	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCGGGCCTGGTGTACCAGGT	0.607													A	153880628	G	A	153880628	3	1	152	1	0	0	0	0	1	0	0	0	3991	1261	44	4	228	4	CTAG2	23	153880628	Missense_Mutation	SNP	G	TCGA-CD-8536-01A-11D-2340-08	707391	153880628	1389932	1061	82878											
USP9Y	8287	broad.mit.edu	37	chrY	14847975	14847975	+	Frame_Shift_Del	DEL	A	A	-													ttctcagtcaacatacactgAaaaagtacttcattccagtt							TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrY:14847975delA	uc004fst.1	+	9	1762	c.817delA	c.(817-819)AAAfs	p.K273fs	USP9Y_uc010nwu.1_RNA	NM_004654	NP_004645	O00507	USP9Y_HUMAN	ubiquitin specific protease 9, Y-linked	273					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						ACATACACTGAAAAAGTACTT	0.323													-	14847975	A	-	14847975	7	5	152	1	0	1	0	1	0	0	0	0	17088	247	9	0	843	0	USP9Y	24	14847975	Frame_Shift_Del	DEL	A	TCGA-CD-8536-01A-11D-2340-08		14847975	44525591	1062	82879											
TNFRSF14	8764	broad.mit.edu	37	chr1	2489866	2489866	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctacattgcccacctcaAtggcctaagcaagtgtctgc	7	15	2	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr1:2489866A>G	uc001ajr.2	+	3	562	c.263A>G	c.(262-264)AAT>AGT	p.N88S	TNFRSF14_uc010nzc.1_Missense_Mutation_p.N88S|TNFRSF14_uc009vlf.1_Missense_Mutation_p.N88S|TNFRSF14_uc001ajt.1_5'UTR|TNFRSF14_uc001ajs.2_Missense_Mutation_p.N88S|LOC115110_uc010nzb.1_5'Flank	NM_003820	NP_003811	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily,	88	TNFR-Cys 2.|Extracellular (Potential).				immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		GCCCACCTCAATGGCCTAAGC	0.637			Mis|N|F		follicular lymphoma								G	2489866	A	G	2489866	3	3	153	1	0	0	0	0	1	0	0	0	16286	101	4	3	273	3	TNFRSF14	1	2489866	Missense_Mutation	SNP	A	TCGA-CD-A486-01A-11D-A24D-08		2489866	246760755	1	82880											
VPS13D	55187	broad.mit.edu	37	chr1	12336133	12336133	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctccagatcatggttggaCgagtgaaagacaattggaag	12	7	1	3			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr1:12336133C>T	uc001atv.2	+	19	2629	c.2488C>T	c.(2488-2490)CGA>TGA	p.R830*	VPS13D_uc001atw.2_Nonsense_Mutation_p.R830*|VPS13D_uc001atx.2_Nonsense_Mutation_p.R18*	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	830					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CATGGTTGGACGAGTGAAAGA	0.438											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	12336133	C	T	12336133	4	4	153	1	0	0	0	0	0	1	0	0	17189	528	19	1	2558	1	VPS13D	1	12336133	Nonsense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	9846267	12336133	236914488	2	82881											
MUTYH	4595	broad.mit.edu	37	chr1	45798155	45798155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgttgccatccaccacaccGgttgcctggcacagaggggc	12	15	0	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr1:45798155G>A	uc001cnm.2	-	9	903	c.687C>T	c.(685-687)ACC>ACT	p.T229T	MUTYH_uc009vxn.2_Silent_p.T54T|MUTYH_uc001cnf.2_Silent_p.T204T|MUTYH_uc009vxo.2_Silent_p.T204T|MUTYH_uc001cng.2_Silent_p.T215T|MUTYH_uc001cnj.2_Silent_p.T112T|MUTYH_uc001cni.2_Silent_p.T204T|MUTYH_uc001cnh.2_Silent_p.T205T|MUTYH_uc001cno.2_Silent_p.T112T|MUTYH_uc001cnk.2_Silent_p.T89T|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Silent_p.T218T|MUTYH_uc009vxp.2_Silent_p.T232T|MUTYH_uc001cnn.2_Silent_p.T219T	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	mutY homolog isoform 1	229					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding				0	Acute lymphoblastic leukemia(166;0.155)					CCACCACACCGGTTGCCTGGC	0.622			Mis			colorectal		BER_DNA_glycosylases	MUTYH-associated_polyposis				A	45798155	G	A	45798155	2	1	153	1	0	0	0	0	0	0	0	1	9993	1103	39	1		1	MUTYH	1	45798155	Silent	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	33462022	45798155	203452466	3	82882											
GTF2B	2959	broad.mit.edu	37	chr1	89323104	89323104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatccacactggtttctagcGctttcaaaataagtttaaaa	5	8	2	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr1:89323104G>A	uc001dmo.3	-	6	721	c.602C>T	c.(601-603)GCG>GTG	p.A201V		NM_001514	NP_001505	Q00403	TF2B_HUMAN	general transcription factor IIB	201					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		GGTTTCTAGCGCTTTCAAAAT	0.348													A	89323104	G	A	89323104	3	1	153	1	0	0	0	0	1	0	0	0	6855	1087	38	1	356	1	GTF2B	1	89323104	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	43524949	89323104	159927517	4	82883											
ADAM30	11085	broad.mit.edu	37	chr1	120436864	120436868	+	Frame_Shift_Del	DEL	AATAA	AATAA	-													caaaaaccactgaaaggattAataaaataaggcgaaacatt							TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr1:120436863_120436867TAATAA>T	uc001eij.3	-	0	2281_2285	c.2093_2097TTATTA>A	c.(2092-2097)ttattafs	p.L698fs		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	698					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CTGAAAGGATTAATAAAATAAGGCG	0.439													-	120436868	AATAA	-	120436864	7	5	153	1	0	1	0	1	0	0	0	0	248	372	13	0	280	0	ADAM30	1	120436864	Frame_Shift_Del	DEL	AATAA	TCGA-CD-A486-01A-11D-A24D-08	31113760	120436864	128813757	5	82884											
FLG	2312	broad.mit.edu	37	chr1	152280650	152280650	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctaacactggatccccgggGcctgcttgtcctgggccctg	13	15	0	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr1:152280650G>C	uc001ezu.1	-	3	6748	c.6712C>G	c.(6712-6714)CCC>GCC	p.P2238A		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2238	Ser-rich.|Filaggrin 13.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCCCGGGGCCTGCTTGTC	0.582									Ichthyosis				C	152280650	G	C	152280650	3	2	153	1	0	0	0	0	1	0	0	0	5922	1203	42	5	5477	5	FLG	1	152280650	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	31843786	152280650	96969971	6	82885											
HEATR5B	54497	broad.mit.edu	37	chr2	37295943	37295943	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	taaaggaaacacatcgtctgGagtacacagcctccacatgt	8	11	1	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr2:37295943G>T	uc002rpp.1	-	8	1154	c.1058C>A	c.(1057-1059)TCC>TAC	p.S353Y		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	353							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				ACATCGTCTGGAGTACACAGC	0.502													T	37295943	G	T	37295943	3	4	153	1	0	0	0	0	1	0	0	0	7032	1174	41	5	5273	5	HEATR5B	2	37295943	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08		37295943	205903430	7	82886											
NRXN1	9378	broad.mit.edu	37	chr2	50280548	50280548	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttgtcatagaggaaggcActtcaccaaccagtctcaca	8	12	3	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr2:50280548A>G	uc010fbp.2	-	4	1601	c.794T>C	c.(793-795)GTG>GCG	p.V265A	NRXN1_uc002rxb.3_Missense_Mutation_p.V1002A|NRXN1_uc010fbq.2_Missense_Mutation_p.V1370A|NRXN1_uc002rxe.3_Missense_Mutation_p.V1300A	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	265	Extracellular (Potential).				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGAGGAAGGCACTTCACCAAC	0.493													G	50280548	A	G	50280548	3	3	153	1	0	0	0	0	1	0	0	0	10665	159	6	3	546	3	NRXN1	2	50280548	Missense_Mutation	SNP	A	TCGA-CD-A486-01A-11D-A24D-08	12984605	50280548	192918825	8	82887											
PAPOLG	64895	broad.mit.edu	37	chr2	61021162	61021162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgtaccattcctaccGtagtaggacgaaatgtcatt	9	9	1	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr2:61021162G>A	uc002sai.2	+	19	2056	c.1825G>A	c.(1825-1827)GTA>ATA	p.V609I	PAPOLG_uc002saj.2_Missense_Mutation_p.V298I|PAPOLG_uc002sak.2_Missense_Mutation_p.V144I|PAPOLG_uc010fch.2_Missense_Mutation_p.V298I	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	609					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			CATTCCTACCGTAGTAGGACG	0.383													A	61021162	G	A	61021162	3	1	153	1	0	0	0	0	1	0	0	0	11431	1145	40	1	1899	1	PAPOLG	2	61021162	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	10740614	61021162	182178211	9	82888											
ETAA1	54465	broad.mit.edu	37	chr2	67631114	67631114	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgtcaagagcaaatacaagtCcagatgccaggttaggagat	11	8	1	3			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr2:67631114C>A	uc002sdz.1	+	5	1439	c.1300C>A	c.(1300-1302)CCA>ACA	p.P434T		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	ETAA16 protein	434						cytoplasm|nucleus				ovary(3)|large_intestine(1)	4						AAATACAAGTCCAGATGCCAG	0.318													A	67631114	C	A	67631114	3	1	153	1	0	0	0	0	1	0	0	0	5267	855	30	5	1318	5	ETAA1	2	67631114	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	6609952	67631114	175568259	10	82889											
CAPG	822	broad.mit.edu	37	chr2	85629046	85629046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccgccacacatgcaggcCtggatcctgcactgagcctg	10	17	0	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr2:85629046C>T	uc002spl.1	-	3	308	c.58G>A	c.(58-60)GGC>AGC	p.G20S	CAPG_uc002spm.1_Missense_Mutation_p.G20S|CAPG_uc010ysq.1_Missense_Mutation_p.G20S|CAPG_uc010fgi.1_Missense_Mutation_p.G20S|CAPG_uc010fgj.1_5'Flank	NM_001747	NP_001738	P40121	CAPG_HUMAN	gelsolin-like capping protein	20					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding				0						ACATGCAGGCCTGGATCCTGC	0.627													T	85629046	C	T	85629046	3	4	153	1	0	0	0	0	1	0	0	0	2621	681	24	4	1020	4	CAPG	2	85629046	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	17997932	85629046	157570327	11	82890											
ARID5A	10865	broad.mit.edu	37	chr2	97215165	97215165	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggagcgacacacgcccatCgagagggtgccccatctcgg	13	14	1	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr2:97215165C>T	uc002swe.2	+	3	328	c.228C>T	c.(226-228)ATC>ATT	p.I76I	ARID5A_uc010yuq.1_5'UTR|ARID5A_uc002swf.2_Intron|ARID5A_uc002swg.2_Intron	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A	76	ARID.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding				0						ACACGCCCATCGAGAGGGTGC	0.512													T	97215165	C	T	97215165	2	4	153	1	0	0	0	0	0	0	0	1	921	874	31	1		1	ARID5A	2	97215165	Silent	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	11586119	97215165	145984208	12	82891											
LRP1B	53353	broad.mit.edu	37	chr2	141092116	141092116	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaatgatccccaacaacagtCcagtacatcatcctgaagag	7	12	1	3			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr2:141092116C>T	uc002tvj.1	-	79	13101	c.12129G>A	c.(12127-12129)TGG>TGA	p.W4043*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4043	Extracellular (Potential).|LDL-receptor class B 35.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAACAACAGTCCAGTACATCA	0.393										TSP Lung(27;0.18)			T	141092116	C	T	141092116	4	4	153	1	0	0	0	0	0	1	0	0	8955	856	30	4	1722	4	LRP1B	2	141092116	Nonsense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	43876951	141092116	102107257	13	82892											
EVX2	344191	broad.mit.edu	37	chr2	176947089	176947089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcgccgcgctcccgccGctgcctccgctgcctccatg	10	23	0	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr2:176947089G>A	uc010zeu.1	-	2	702	c.516C>T	c.(514-516)AGC>AGT	p.S172S		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	172						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CGCTCCCGCCGCTGCCTCCGC	0.716													A	176947089	G	A	176947089	2	1	153	1	0	0	0	0	0	0	0	1	5295	1078	38	1		1	EVX2	2	176947089	Silent	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	35854973	176947089	66252284	14	82893											
TTN	7273	broad.mit.edu	37	chr2	179517027	179517027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggctttttaggaggagGcactggcactttcttttcag	11	8	3	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr2:179517027G>A	uc010zfg.1	-	157	32097	c.31873C>T	c.(31873-31875)CCT>TCT	p.P10625S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11552							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGGAGGAGGCACTGGCACT	0.398													A	179517027	G	A	179517027	3	1	153	1	0	0	0	0	1	0	0	0	16732	1203	42	2	68736	2	TTN	2	179517027	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	2569938	179517027	63682346	15	82894											
TTN	7273	broad.mit.edu	37	chr2	179587262	179587262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcttgcaaaagaaggtgGgagttggcgctctgtaggga	16	5	2	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr2:179587262G>A	uc010zfg.1	-	74	18744	c.18520C>T	c.(18520-18522)CCA>TCA	p.P6174S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P2835S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7101							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGAAGGTGGGAGTTGGCGC	0.398													A	179587262	G	A	179587262	3	1	153	1	0	0	0	0	1	0	0	0	16732	1232	43	4	82421	4	TTN	2	179587262	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	70235	179587262	63612111	16	82895											
XRCC5	7520	broad.mit.edu	37	chr2	216986888	216986888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccactaaaaggaattaccGaacagcaaaaagaaggtctt	7	8	1	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr2:216986888G>A	uc002vfy.2	+	6	735	c.595G>A	c.(595-597)GAA>AAA	p.E199K	XRCC5_uc002vfz.2_Missense_Mutation_p.E85K	NM_021141	NP_066964	P13010	XRCC5_HUMAN	ATP-dependent DNA helicase II	199					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			lung(1)|kidney(1)	2		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AGGAATTACCGAACAGCAAAA	0.433								Direct_reversal_of_damage|NHEJ					A	216986888	G	A	216986888	3	1	153	1	0	0	0	0	1	0	0	0	17453	1059	37	1	617	1	XRCC5	2	216986888	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	37399626	216986888	26212485	17	82896											
STK36	27148	broad.mit.edu	37	chr2	219564048	219564048	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcattgccctccggagcctgCaacaggagcctggcatccat	10	15	1	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr2:219564048C>G	uc002viu.2	+	26	4047	c.3781C>G	c.(3781-3783)CAA>GAA	p.Q1261E	STK36_uc002viv.2_Missense_Mutation_p.Q1240E|STK36_uc002viw.2_Missense_Mutation_p.Q439E|STK36_uc002vix.2_Missense_Mutation_p.Q306E	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1261					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CCGGAGCCTGCAACAGGAGCC	0.527													G	219564048	C	G	219564048	3	3	153	1	0	0	0	0	1	0	0	0	15301	711	25	5	3879	5	STK36	2	219564048	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	2577160	219564048	23635325	18	82897											
CDC25A	993	broad.mit.edu	37	chr3	48226154	48226154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatacatacttttctttactGtccaatggcccaggagaatc	6	10	1	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr3:48226154G>A	uc003csh.1	-	3	643	c.279C>T	c.(277-279)GAC>GAT	p.D93D	CDC25A_uc003csi.1_Silent_p.D93D	NM_001789	NP_001780	P30304	MPIP1_HUMAN	cell division cycle 25A isoform a	93					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)		TTTCTTTACTGTCCAATGGCC	0.294													A	48226154	G	A	48226154	2	1	153	1	0	0	0	0	0	0	0	1	3062	1368	48	4		4	CDC25A	3	48226154	Silent	SNP	G	TCGA-CD-A486-01A-11D-A24D-08		48226154	149796276	19	82898											
ROBO1	6091	broad.mit.edu	37	chr3	78680429	78680429	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttggtaccttgggtgttcTtgcccctttcttgtgcccct	9	12	2	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr3:78680429T>C	uc003dqe.2	-	25	3716	c.3508A>G	c.(3508-3510)AGA>GGA	p.R1170G	ROBO1_uc003dqb.2_Missense_Mutation_p.R1131G|ROBO1_uc003dqc.2_Missense_Mutation_p.R1070G|ROBO1_uc003dqd.2_Missense_Mutation_p.R1125G|ROBO1_uc010hoh.2_Missense_Mutation_p.R362G|ROBO1_uc011bgl.1_Missense_Mutation_p.R742G	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1170	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTGGGTGTTCTTGCCCCTTTC	0.463													C	78680429	T	C	78680429	3	2	153	1	0	0	0	0	1	0	0	0	13513	1617	56	3	1475	3	ROBO1	3	78680429	Missense_Mutation	SNP	T	TCGA-CD-A486-01A-11D-A24D-08	30454275	78680429	119342001	20	82899											
ROBO1	6091	broad.mit.edu	37	chr3	78685247	78685247	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagttggttgttataatttgCtatacaatcagctatgtgca	8	6	1	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr3:78685247C>A	uc003dqe.2	-	23	3257	c.3049G>T	c.(3049-3051)GCA>TCA	p.A1017S	ROBO1_uc003dqb.2_Missense_Mutation_p.A978S|ROBO1_uc003dqc.2_Intron|ROBO1_uc003dqd.2_Missense_Mutation_p.A972S|ROBO1_uc010hoh.2_Missense_Mutation_p.A209S|ROBO1_uc011bgl.1_Missense_Mutation_p.A589S	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1017	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTATAATTTGCTATACAATCA	0.353													A	78685247	C	A	78685247	3	1	153	1	0	0	0	0	1	0	0	0	13513	797	28	5	1942	5	ROBO1	3	78685247	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	4818	78685247	119337183	21	82900											
DNAJC13	23317	broad.mit.edu	37	chr3	132172483	132172483	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacttacagaaacatgttTagtagaacgtgatccggcaa	9	8	0	3			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr3:132172483T>C	uc003eor.2	+	8	850	c.785T>C	c.(784-786)TTA>TCA	p.L262S	DNAJC13_uc010htq.1_Missense_Mutation_p.L262S|DNAJC13_uc003eos.1_5'Flank	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	262							heat shock protein binding			ovary(1)|breast(1)	2						GAAACATGTTTAGTAGAACGT	0.313													C	132172483	T	C	132172483	3	2	153	1	0	0	0	0	1	0	0	0	4632	1764	61	3	811	3	DNAJC13	3	132172483	Missense_Mutation	SNP	T	TCGA-CD-A486-01A-11D-A24D-08	53487236	132172483	65849947	22	82901											
PAQR9	344838	broad.mit.edu	37	chr3	142681730	142681730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtagaagaaggcggcgCgcagacgcagcgacaggcag	17	11	0	3			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr3:142681730C>T	uc003evg.2	-	1	449	c.449G>A	c.(448-450)CGC>CAC	p.R150H	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	150	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						GAAGGCGGCGCGCAGACGCAG	0.632													T	142681730	C	T	142681730	3	4	153	1	0	0	0	0	1	0	0	0	11442	768	27	1	688	1	PAQR9	3	142681730	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	10509247	142681730	55340700	23	82902											
SLBP	7884	broad.mit.edu	37	chr4	1696506	1696506	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atccaaagtacttacaaagtCatcctgagagctggtctggg	10	9	2	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr4:1696506C>T	uc003gdi.1	-	7	806	c.691G>A	c.(691-693)GAC>AAC	p.D231N	SLBP_uc010ibx.1_Missense_Mutation_p.D238N|SLBP_uc003gdj.1_Missense_Mutation_p.D211N|SLBP_uc003gdk.1_Missense_Mutation_p.D192N|SLBP_uc011bvf.1_Missense_Mutation_p.D196N|SLBP_uc003gdl.1_Missense_Mutation_p.D148N	NM_006527	NP_006518	Q14493	SLBP_HUMAN	stem-loop (histone) binding protein	231				Missing: Decrease in 3'-end processing efficiency.	DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription	cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm	histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding				0		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			CTTACAAAGTCATCCTGAGAG	0.423													T	1696506	C	T	1696506	3	4	153	1	0	0	0	0	1	0	0	0	14372	826	29	4	129	4	SLBP	4	1696506	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08		1696506	189457770	24	82903											
TBCK	93627	broad.mit.edu	37	chr4	107165791	107165791	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttctttccttacttggggagTgtgcagataggtggtttgga	14	5	1	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr4:107165791T>A	uc010ilv.2	-	11	1427	c.1062A>T	c.(1060-1062)ACA>ACT	p.T354T	TBCK_uc003hyb.2_Silent_p.T97T|TBCK_uc003hye.2_Silent_p.T315T|TBCK_uc003hyc.2_Silent_p.T291T|TBCK_uc003hyd.2_Silent_p.T182T|TBCK_uc003hyf.2_Silent_p.T354T	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	354						intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						ACTTGGGGAGTGTGCAGATAG	0.343													A	107165791	T	A	107165791	2	1	153	1	0	0	0	0	0	0	0	1	15633	1683	59	5		5	TBCK	4	107165791	Silent	SNP	T	TCGA-CD-A486-01A-11D-A24D-08	105469285	107165791	83988485	25	82904											
LARP7	51574	broad.mit.edu	37	chr4	113568059	113568059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctactggagatccaaaggGatttgcgtttgtggaatttg	13	5	1	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr4:113568059G>A	uc003iay.2	+	5	778	c.500G>A	c.(499-501)GGA>GAA	p.G167E	LARP7_uc003iaz.2_Missense_Mutation_p.G174E|LARP7_uc003iba.2_Missense_Mutation_p.G88E|LARP7_uc003ibb.2_Missense_Mutation_p.G167E	NM_016648	NP_057732	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	167	RRM.				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(3)	3		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		GATCCAAAGGGATTTGCGTTT	0.303													A	113568059	G	A	113568059	3	1	153	1	0	0	0	0	1	0	0	0	8633	1174	41	4	514	4	LARP7	4	113568059	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	6402268	113568059	77586217	26	82905											
SLC25A4	291	broad.mit.edu	37	chr4	186067969	186067969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcatttgtttccacagcCgatattatgtacacggggac	9	11	0	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr4:186067969C>T	uc003ixd.2	+	4	870	c.741C>T	c.(739-741)GCC>GCT	p.A247A	SLC25A4_uc003ixe.2_RNA	NM_001151	NP_001142	P12235	ADT1_HUMAN	adenine nucleotide translocator 1	247	Solcar 3.				energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding			ovary(1)	1		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	TTTCCACAGCCGATATTATGT	0.473													T	186067969	C	T	186067969	2	4	153	1	0	0	0	0	0	0	0	1	14504	666	23	1		1	SLC25A4	4	186067969	Silent	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	72499910	186067969	5086307	27	82906											
PDZD2	23037	broad.mit.edu	37	chr5	32037440	32037440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaatcaagctcaagagtcGcctttcaggtaggtgggggc	13	8	3	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr5:32037440G>A	uc003jhl.2	+	7	1899	c.1511G>A	c.(1510-1512)CGC>CAC	p.R504H	PDZD2_uc003jhm.2_Missense_Mutation_p.R504H|PDZD2_uc011cnx.1_Missense_Mutation_p.R330H	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	504					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CTCAAGAGTCGCCTTTCAGGT	0.547													A	32037440	G	A	32037440	3	1	153	1	0	0	0	0	1	0	0	0	11701	1087	38	1	1533	1	PDZD2	5	32037440	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08		32037440	148877820	28	82907											
PDZD2	23037	broad.mit.edu	37	chr5	32089087	32089087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcaagccaaaaaaagggcGttactgtgcctcatagccct	9	11	2	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr5:32089087G>A	uc003jhl.2	+	20	5921	c.5533G>A	c.(5533-5535)GTT>ATT	p.V1845I	PDZD2_uc003jhm.2_Missense_Mutation_p.V1845I	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1845					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						AAAAAAGGGCGTTACTGTGCC	0.473													A	32089087	G	A	32089087	3	1	153	1	0	0	0	0	1	0	0	0	11701	1145	40	1	5607	1	PDZD2	5	32089087	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	51647	32089087	148826173	29	82908											
NIPBL	25836	broad.mit.edu	37	chr5	37020587	37020587	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtaaattctatatagcccaGtggtttcgagacacaactct	7	10	2	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr5:37020587G>A	uc003jkl.3	+	26	5536	c.5037G>A	c.(5035-5037)CAG>CAA	p.Q1679Q	NIPBL_uc003jkk.3_Silent_p.Q1679Q	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1679					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATATAGCCCAGTGGTTTCGAG	0.348													A	37020587	G	A	37020587	2	1	153	1	0	0	0	0	0	0	0	1	10428	1020	36	4		4	NIPBL	5	37020587	Silent	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	4931500	37020587	143894673	30	82909											
SLCO6A1	133482	broad.mit.edu	37	chr5	101834416	101834416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagataccggtgttttttccCgggcttcgaggacttcgggg	14	10	0	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr5:101834416C>T	uc003knn.2	-	1	305	c.133G>A	c.(133-135)GGG>AGG	p.G45R	SLCO6A1_uc003kno.2_Missense_Mutation_p.G45R|SLCO6A1_uc003knp.2_Missense_Mutation_p.G45R|SLCO6A1_uc003knq.2_Missense_Mutation_p.G45R	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	45	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGTTTTTTCCCGGGCTTCGAG	0.572													T	101834416	C	T	101834416	3	4	153	1	0	0	0	0	1	0	0	0	14732	652	23	1	2078	1	SLCO6A1	5	101834416	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	64813829	101834416	79080844	31	82910											
KCNN2	3781	broad.mit.edu	37	chr5	113740306	113740306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccccatccacaaccaccGctgatgtggatattatttta	6	12	0	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr5:113740306G>A	uc003kqo.2	+	3	1211	c.754G>A	c.(754-756)GCT>ACT	p.A252T		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	252						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CACAACCACCGCTGATGTGGA	0.438													A	113740306	G	A	113740306	3	1	153	1	0	0	0	0	1	0	0	0	8079	1087	38	1	764	1	KCNN2	5	113740306	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	11905890	113740306	67174954	32	82911											
CDC23	8697	broad.mit.edu	37	chr5	137548983	137548983	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtcacagccaccgggaccaTggaggtactcgcagccattt	11	14	1	0	rs143830444		TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr5:137548983T>C	uc003lcl.2	-	1	50	c.19A>G	c.(19-21)ATG>GTG	p.M7V	CDC23_uc003lcm.1_Missense_Mutation_p.M7V	NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	cell division cycle protein 23	7					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACCGGGACCATGGAGGTACTC	0.532													C	137548983	T	C	137548983	3	2	153	1	0	0	0	0	1	0	0	0	3061	1464	51	3	1838	3	CDC23	5	137548983	Missense_Mutation	SNP	T	TCGA-CD-A486-01A-11D-A24D-08	23808677	137548983	43366277	33	82912											
PCDHGA8	9708	broad.mit.edu	37	chr5	140772559	140772559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggacccccggaagctggCgaagcacggagtccgtatcg	15	13	0	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr5:140772559C>T	uc003lkd.1	+	1	1077	c.179C>T	c.(178-180)GCG>GTG	p.A60V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.A60V	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	60	Cadherin 1.|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)			CGGAAGCTGGCGAAGCACGGA	0.612													T	140772559	C	T	140772559	3	4	153	1	0	0	0	0	1	0	0	0	11560	768	27	1	181	1	PCDHGA8	5	140772559	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	3223576	140772559	40142701	34	82913											
G3BP1	10146	broad.mit.edu	37	chr5	151178856	151178857	+	Frame_Shift_Ins	INS	-	-	A													ggataccacctcatgttgttINSaaagtaccagcttcacaggt							TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr5:151178856_151178857insA	uc003lun.2	+	8	996_997	c.825_826insA	c.(823-828)GTTAAAfs	p.V275fs	G3BP1_uc003lum.2_Frame_Shift_Ins_p.V275fs|G3BP1_uc011dcu.1_Frame_Shift_Ins_p.V93fs|G3BP1_uc010jhz.2_Frame_Shift_Ins_p.V93fs|G3BP1_uc003luq.2_Intron	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	275_276					Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CTCATGTTGTTAAAGTACCAGC	0.401													A	151178857	-	A	151178856	7	5	153	1	0	1	1	0	0	0	0	0	6141	1741	61	0	851	0	G3BP1	5	151178856	Frame_Shift_Ins	INS	-	TCGA-CD-A486-01A-11D-A24D-08	10406297	151178856	29736404	35	82914	415	2									
G3BP1	10146	broad.mit.edu	37	chr5	151178857	151178858	+	Frame_Shift_Ins	INS	-	-	A													gataccacctcatgttgttaINSaagtaccagcttcacaggta							TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr5:151178856_151178857T>TA	uc003lun.3	+	7	996_997	c.825_826T>TA	c.(823-828)gttaaafs	p.V275fs	G3BP1_uc003lum.3_Frame_Shift_Ins_p.V275fs|G3BP1_uc011dcu.2_Frame_Shift_Ins_p.V93fs|G3BP1_uc010jhz.3_Frame_Shift_Ins_p.V93fs|G3BP1_uc003luq.3_Intron	NM_005754	NP_938405	Q13283	G3BP1_HUMAN	Homo sapiens GTPase activating protein (SH3 domain) binding protein 1 (G3BP1), transcript variant 1, mRNA.	275					Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|RNA binding|endonuclease activity|protein binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CTCATGTTGTTAAAGTACCAGC	0.401													A	151178858	-	A	151178857	7	5	153	1	0	1	1	0	0	0	0	0	6141	363	13	0	852	0	G3BP1	5	151178857	Frame_Shift_Ins	INS	-	TCGA-CD-A486-01A-11D-A24D-08	1	151178857	29736403	36	82915	415	2									
PECI	10455	broad.mit.edu	37	chr6	4133892	4133892	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttctgactggctctcattGctgttctattcatgtgcagc	8	12	4	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr6:4133892G>T	uc003mwf.2	-	2	141	c.104C>A	c.(103-105)GCA>GAA	p.A35E	PECI_uc003mwc.2_5'UTR|PECI_uc003mwd.2_Missense_Mutation_p.A5E|PECI_uc003mwe.2_5'UTR|PECI_uc010jnr.1_RNA|uc003mwg.1_5'Flank	NM_206836	NP_996667	O75521	ECI2_HUMAN	peroxisomal D3,D2-enoyl-CoA isomerase isoform 2	35					fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding				0	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GGCTCTCATTGCTGTTCTATT	0.413													T	4133892	G	T	4133892	3	4	153	1	0	0	0	0	1	0	0	0	11716	1319	46	5	1116	5	PECI	6	4133892	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08		4133892	166981175	37	82916											
KIF13A	63971	broad.mit.edu	37	chr6	17781532	17781532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattggcactgaggtcatccGctaaccacatcaggagcaca	9	13	2	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr6:17781532G>A	uc003ncg.3	-	30	3650	c.3545C>T	c.(3544-3546)GCG>GTG	p.A1182V	KIF13A_uc003ncf.2_Missense_Mutation_p.A1169V|KIF13A_uc003nch.3_Missense_Mutation_p.A1182V|KIF13A_uc003nci.3_Missense_Mutation_p.A1169V|KIF13A_uc003nce.1_5'Flank	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1182					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GAGGTCATCCGCTAACCACAT	0.463													A	17781532	G	A	17781532	3	1	153	1	0	0	0	0	1	0	0	0	8274	1101	38	1	1937	1	KIF13A	6	17781532	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	13647640	17781532	153333535	38	82917											
SYNCRIP	10492	broad.mit.edu	37	chr6	86350007	86350008	+	In_Frame_Ins	INS	-	-	TGT													ccttgtttttctctctgcctINSgtaagtcttcatgactccac							TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr6:86350006_86350007C>CTGT	uc003pla.2	-	3	848_849	c.307_308G>ACAG	c.(307-309)agg>ACAGg	p.R103T	SYNCRIP_uc003pku.3_In_Frame_Ins_p.R103T|SYNCRIP_uc003pkv.3_In_Frame_Ins_p.R103T|SYNCRIP_uc003pkw.3_In_Frame_Ins_p.R103T|SYNCRIP_uc003pkx.3_5'UTR|SYNCRIP_uc003pky.3_In_Frame_Ins_p.R5T|SYNCRIP_uc003pkz.2_In_Frame_Ins_p.R103T	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein (SYNCRIP), transcript variant 1, mRNA.	103					CRD-mediated mRNA stabilization|interspecies interaction between organisms	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TTCTCTCTGCCTGTAAGTCTTC	0.332													TGT	86350008	-	TGT	86350007	7	5	153	1	0	1	1	0	0	0	0	0	15441	1579	55	0	1642	0	SYNCRIP	6	86350007	In_Frame_Ins	INS	-	TCGA-CD-A486-01A-11D-A24D-08	68568475	86350007	84765060	39	82918											
C6orf204	387119	broad.mit.edu	37	chr6	118953695	118953695	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtctcctgatatggttAtttcgatggttagatggaac	11	6	1	2			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr6:118953695A>G	uc003pxz.1	-	2	741	c.153T>C	c.(151-153)AAT>AAC	p.N51N	C6orf204_uc003pya.1_Silent_p.N54N|C6orf204_uc003pyb.2_Silent_p.N51N|C6orf204_uc011ebj.1_5'UTR|C6orf204_uc003pyc.2_Silent_p.N54N|C6orf204_uc011ebl.1_5'UTR	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	51						centrosome				breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)		TGATATGGTTATTTCGATGGT	0.423													G	118953695	A	G	118953695	2	3	153	1	0	0	0	0	0	0	0	1	2353	446	16	3		3	C6orf204	6	118953695	Silent	SNP	A	TCGA-CD-A486-01A-11D-A24D-08	32603688	118953695	52161372	40	82919											
HEY2	23493	broad.mit.edu	37	chr6	126080738	126080738	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccgtccacgccgcagcCgcagcagccaccgcggctgc	12	21	0	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr6:126080738C>T	uc003qad.2	+	5	995	c.804C>T	c.(802-804)GCC>GCT	p.A268A	HEY2_uc011ebr.1_Silent_p.A222A	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	hairy/enhancer-of-split related with YRPW motif	268	Ala-rich.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		ACGCCGCAGCCGCAGCAGCCA	0.682													T	126080738	C	T	126080738	2	4	153	1	0	0	0	0	0	0	0	1	7079	639	23	1		1	HEY2	6	126080738	Silent	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	7127043	126080738	45034329	41	82920											
STXBP5	134957	broad.mit.edu	37	chr6	147635091	147635091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatgttgcgaatattttgCggattgtcctgtggacctta	10	7	0	0	rs34215830		TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr6:147635091C>T	uc003qlz.2	+	12	1378	c.1217C>T	c.(1216-1218)GCG>GTG	p.A406V	STXBP5_uc010khz.1_Missense_Mutation_p.A406V|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.A77V	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	406	WD 8.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GAATATTTTGCGGATTGTCCT	0.363													T	147635091	C	T	147635091	3	4	153	1	0	0	0	0	1	0	0	0	15355	768	27	1	1263	1	STXBP5	6	147635091	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	21554353	147635091	23479976	42	82921											
NOD1	10392	broad.mit.edu	37	chr7	30492600	30492603	+	Frame_Shift_Del	DEL	GCAC	GCAC	-													ctccttctgggcatagcacaGcacgaacttggagtcacggc					rs140176390		TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr7:30492599_30492602AGCAC>A	uc003tav.3	-	5	954_957	c.431_434GTGCT>T	c.(430-435)gtgctgfs	p.V144fs	NOD1_uc010kvs.2_Frame_Shift_Del_p.V144fs	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	144					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GGCATAGCACAGCACGAACTTGGA	0.603													-	30492603	GCAC	-	30492600	7	5	153	1	0	1	0	1	0	0	0	0	10516	962	34	0	2464	0	NOD1	7	30492600	Frame_Shift_Del	DEL	GCAC	TCGA-CD-A486-01A-11D-A24D-08		30492600	128646063	43	82922											
COBL	23242	broad.mit.edu	37	chr7	51092871	51092871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggcttgccttgcgtctgCggtgttgctgagggtgcccg	16	11	1	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr7:51092871C>T	uc003tpr.3	-	12	3888	c.3703G>A	c.(3703-3705)GCA>ACA	p.A1235T	COBL_uc003tps.2_Missense_Mutation_p.A1245T|COBL_uc011kcl.1_Missense_Mutation_p.A1188T|COBL_uc003tpp.3_Missense_Mutation_p.A1021T|COBL_uc003tpq.3_Missense_Mutation_p.A1129T|COBL_uc003tpo.3_Missense_Mutation_p.A777T	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	1235										skin(3)|ovary(2)	5	Glioma(55;0.08)					CTTGCGTCTGCGGTGTTGCTG	0.647													T	51092871	C	T	51092871	3	4	153	1	0	0	0	0	1	0	0	0	3653	768	27	1	90	1	COBL	7	51092871	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	20600271	51092871	108045792	44	82923											
SYPL1	6856	broad.mit.edu	37	chr7	105732297	105732297	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctccttggctatgaggggcaGatgtatttgatggactgtgt	14	6	0	3			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr7:105732297G>T	uc003vdp.2	-	6	816	c.734C>A	c.(733-735)TCT>TAT	p.S245Y	SYPL1_uc003vdo.2_Missense_Mutation_p.S227Y	NM_006754	NP_006745	Q16563	SYPL1_HUMAN	synaptophysin-like 1 isoform a	245	Cytoplasmic (Potential).				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity				0						ATGAGGGGCAGATGTATTTGA	0.403													T	105732297	G	T	105732297	3	4	153	1	0	0	0	0	1	0	0	0	15459	942	33	5	49	5	SYPL1	7	105732297	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	54639426	105732297	53406366	45	82924											
GIMAP1	170575	broad.mit.edu	37	chr7	150417618	150417618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagagaaccgggccttgcgcGagctggtggccgagtgcggg	19	11	0	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr7:150417618G>A	uc003whq.2	+	3	613	c.526G>A	c.(526-528)GAG>AAG	p.E176K	GIMAP1_uc003whp.2_Missense_Mutation_p.E184K	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	176	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCCTTGCGCGAGCTGGTGGC	0.652													A	150417618	G	A	150417618	3	1	153	1	0	0	0	0	1	0	0	0	6379	1059	37	1	532	1	GIMAP1	7	150417618	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	44685321	150417618	8721045	46	82925											
DLC1	10395	broad.mit.edu	37	chr8	12948861	12948861	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcactcggcgatcatatggGccagcccttgagtggcagct	13	12	1	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr8:12948861G>C	uc003wwm.2	-	14	4265	c.3821C>G	c.(3820-3822)GCC>GGC	p.A1274G	DLC1_uc003wwk.1_Missense_Mutation_p.A837G|DLC1_uc003wwl.1_Missense_Mutation_p.A871G|DLC1_uc011kxx.1_Missense_Mutation_p.A763G	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1274	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GATCATATGGGCCAGCCCTTG	0.408													C	12948861	G	C	12948861	3	2	153	1	0	0	0	0	1	0	0	0	4550	1203	42	5	785	5	DLC1	8	12948861	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08		12948861	133415161	47	82926											
CLU	1191	broad.mit.edu	37	chr8	27462602	27462602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaagctgcggacgatgcggGacttgggaaagaagaagtga	16	6	1	3			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr8:27462602G>A	uc003xfw.1	-	4	726	c.668C>T	c.(667-669)TCC>TTC	p.S223F	CLU_uc010lux.1_Missense_Mutation_p.S88F|CLU_uc003xfx.1_Missense_Mutation_p.S223F|CLU_uc003xfy.1_Missense_Mutation_p.S234F|CLU_uc003xfz.1_Missense_Mutation_p.S275F	NM_203339	NP_976084	P10909	CLUS_HUMAN	clusterin isoform 2	223					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			ovary(2)	2		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GACGATGCGGGACTTGGGAAA	0.597													A	27462602	G	A	27462602	3	1	153	1	0	0	0	0	1	0	0	0	3568	1174	41	4	701	4	CLU	8	27462602	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	14513741	27462602	118901420	48	82927											
ZMAT4	79698	broad.mit.edu	37	chr8	40625170	40625170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatactcacattttctgacCggagcctcttggcaggacac	9	12	3	2			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr8:40625170C>T	uc003xnr.2	-	3	328	c.182G>A	c.(181-183)CGG>CAG	p.R61Q	ZMAT4_uc003xns.2_Missense_Mutation_p.R61Q	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	zinc finger, matrin type 4 isoform a	61						nucleus	DNA binding|zinc ion binding			pancreas(1)|central_nervous_system(1)|skin(1)	3	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			ATTTTCTGACCGGAGCCTCTT	0.468													T	40625170	C	T	40625170	3	4	153	1	0	0	0	0	1	0	0	0	17691	652	23	1	527	1	ZMAT4	8	40625170	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	13162568	40625170	105738852	49	82928											
PXDNL	137902	broad.mit.edu	37	chr8	52321907	52321907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcggggcgcgcggatgccGtcccggtaggctggctgcag	19	14	0	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr8:52321907G>A	uc003xqu.3	-	17	2378	c.2277C>T	c.(2275-2277)GAC>GAT	p.D759D	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	759					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CGCGGATGCCGTCCCGGTAGG	0.786													A	52321907	G	A	52321907	2	1	153	1	0	0	0	0	0	0	0	1	12848	1136	40	1		1	PXDNL	8	52321907	Silent	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	11696737	52321907	94042115	50	82929											
NBN	4683	broad.mit.edu	37	chr8	90971067	90971067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaaggcttggtcctggaGttgttgtctttaatcctgta	12	6	1	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr8:90971067G>A	uc003yej.1	-	9	1120	c.1010C>T	c.(1009-1011)ACT>ATT	p.T337I	NBN_uc003yei.1_Missense_Mutation_p.T255I|NBN_uc011lgb.1_Missense_Mutation_p.T337I	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	337					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGGTCCTGGAGTTGTTGTCTT	0.403								Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome				A	90971067	G	A	90971067	3	1	153	1	0	0	0	0	1	0	0	0	10191	1029	36	4	1286	4	NBN	8	90971067	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	38649160	90971067	55392955	51	82930											
KIAA2026	158358	broad.mit.edu	37	chr9	5922640	5922640	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggcacttcttttgcaactGcttttccttctttatgctga	7	10	2	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr9:5922640G>T	uc003zjq.3	-	8	3572	c.3356C>A	c.(3355-3357)GCA>GAA	p.A1119E	KIAA2026_uc010mht.2_Missense_Mutation_p.A294E	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	1119										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTTTGCAACTGCTTTTCCTTC	0.378													T	5922640	G	T	5922640	3	4	153	1	0	0	0	0	1	0	0	0	8270	1319	46	5	2959	5	KIAA2026	9	5922640	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08		5922640	135290791	52	82931											
BICD2	23299	broad.mit.edu	37	chr9	95527000	95527002	+	In_Frame_Del	DEL	CTC	CTC	-													tccatcaccagccgcgcgtaCtcctcctcctccgacggcgc							TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr9:95527000_95527002delCTC	uc004aso.1	-	1	82_84	c.25_27delGAG	c.(25-27)GAGdel	p.E9del	BICD2_uc004asp.1_In_Frame_Del_p.E9del	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	9					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						GCCGCGCGTACTCCTCCTCCTCC	0.65													-	95527002	CTC	-	95527000	7	5	153	1	0	1	0	1	0	0	0	0	1429	564	20	0	2578	0	BICD2	9	95527000	In_Frame_Del	DEL	CTC	TCGA-CD-A486-01A-11D-A24D-08	89604360	95527000	45686431	53	82932											
MUSK	4593	broad.mit.edu	37	chr9	113563164	113563164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagctgtacaatctcatgCgtctatgttggagcaagctg	12	8	2	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr9:113563164C>T	uc004bey.2	+	14	2604	c.2506C>T	c.(2506-2508)CGT>TGT	p.R836C	MUSK_uc004bez.1_Missense_Mutation_p.R416C	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	836	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						CAATCTCATGCGTCTATGTTG	0.532													T	113563164	C	T	113563164	3	4	153	1	0	0	0	0	1	0	0	0	9989	768	27	1	2596	1	MUSK	9	113563164	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	18036164	113563164	27650267	54	82933											
NOTCH1	4851	broad.mit.edu	37	chr9	139405667	139405667	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcggattgcctgcactcccCgccgtttctgcaggggctgg	13	15	1	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr9:139405667C>A	uc004chz.2	-	16	2524	c.2524G>T	c.(2524-2526)GGG>TGG	p.G842W	NOTCH1_uc004cia.1_Missense_Mutation_p.G72W	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	842	Extracellular (Potential).|EGF-like 22.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGCACTCCCCGCCGTTTCTG	0.687			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			A	139405667	C	A	139405667	3	1	153	1	0	0	0	0	1	0	0	0	10547	652	23	5	5219	5	NOTCH1	9	139405667	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	25842503	139405667	1807764	55	82934											
CELF2	10659	broad.mit.edu	37	chr10	11312665	11312665	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggtgaagtttgctgacActcagaaggacaaagagcaa	12	7	1	4			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr10:11312665A>G	uc001iki.3	+	7	726	c.634A>G	c.(634-636)ACT>GCT	p.T212A	CELF2_uc010qbi.1_5'UTR|CELF2_uc010qbj.1_Missense_Mutation_p.T212A|CELF2_uc001ikk.2_Missense_Mutation_p.T219A|CELF2_uc001ikl.3_Missense_Mutation_p.T219A|CELF2_uc010qbk.1_RNA|CELF2_uc010qbl.1_Missense_Mutation_p.T188A|CELF2_uc010qbm.1_5'UTR|CELF2_uc001iko.3_Missense_Mutation_p.T188A|CELF2_uc001ikp.3_Missense_Mutation_p.T188A|CELF2_uc010qbn.1_Missense_Mutation_p.T196A|CELF2_uc010qbo.1_Missense_Mutation_p.T101A|CELF2_uc010qbp.1_5'UTR	NM_001025077	NP_001020248	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2	212	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0						GTTTGCTGACACTCAGAAGGA	0.592											OREG0020007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	11312665	A	G	11312665	3	3	153	1	0	0	0	0	1	0	0	0	3216	159	6	3	738	3	CELF2	10	11312665	Missense_Mutation	SNP	A	TCGA-CD-A486-01A-11D-A24D-08		11312665	124222082	56	82935											
CUBN	8029	broad.mit.edu	37	chr10	17024557	17024557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgatgatttctgtcaacccGaatgacccaagaacagtctg	8	11	3	3	rs146824506		TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr10:17024557G>A	uc001ioo.2	-	31	4673	c.4621C>T	c.(4621-4623)CGG>TGG	p.R1541W		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1541	CUB 10.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTGTCAACCCGAATGACCCAA	0.428													A	17024557	G	A	17024557	3	1	153	1	0	0	0	0	1	0	0	0	4051	1057	37	1	6398	1	CUBN	10	17024557	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	5711892	17024557	118510190	57	82936											
RHOBTB1	9886	broad.mit.edu	37	chr10	62631320	62631320	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagtgcaatatcttccttctCtcgttcccttttcacacgct	4	14	3	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr10:62631320C>T	uc001jli.2	-	12	2449	c.2011G>A	c.(2011-2013)GAG>AAG	p.E671K	RHOBTB1_uc001jlh.2_Missense_Mutation_p.E671K|RHOBTB1_uc001jlj.2_Missense_Mutation_p.E671K|RHOBTB1_uc001jlk.2_Missense_Mutation_p.E671K|RHOBTB1_uc009xpe.1_Missense_Mutation_p.E609K|RHOBTB1_uc009xpd.2_3'UTR|RHOBTB1_uc001jll.2_Missense_Mutation_p.E421K	NM_014836	NP_055651	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	671					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			upper_aerodigestive_tract(1)	1	Prostate(12;0.0112)					TCTTCCTTCTCTCGTTCCCTT	0.488													T	62631320	C	T	62631320	3	4	153	1	0	0	0	0	1	0	0	0	13333	922	32	4	83	4	RHOBTB1	10	62631320	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	45606763	62631320	72903427	58	82937											
HECTD2	143279	broad.mit.edu	37	chr10	93247481	93247482	+	Frame_Shift_Ins	INS	-	-	A													tcgttatttctgtagctgcaINSaaaaaaatcattattcagag					rs57105282		TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr10:93247480_93247481C>CA	uc010qnm.1	+	11	1248_1249	c.1148_1149C>CA	c.(1147-1149)gcafs	p.A383fs	LOC100188947_uc010qnl.2_Intron|HECTD2_uc001khl.2_Frame_Shift_Ins_p.A379fs|HECTD2_uc001khm.2_Non-coding_Transcript|HECTD2_uc009xty.1_Intron|HECTD2_uc001khn.1_Frame_Shift_Ins_p.A29fs	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	Homo sapiens HECT domain containing 2 (HECTD2), transcript variant 1, mRNA.	379					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TCTGTAGCTGCAAAAAAAATCA	0.317													A	93247482	-	A	93247481	7	5	153	1	0	1	1	0	0	0	0	0	7040	117	5	0	1203	0	HECTD2	10	93247481	Frame_Shift_Ins	INS	-	TCGA-CD-A486-01A-11D-A24D-08	30616161	93247481	42287266	59	82938											
MARCH5	54708	broad.mit.edu	37	chr10	94100524	94100524	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggtcggctctatctattgGacagctgtgacttatggagc	12	8	2	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr10:94100524G>A	uc001khx.1	+	3	665	c.333G>A	c.(331-333)TGG>TGA	p.W111*	MARCH5_uc010qno.1_Nonsense_Mutation_p.W7*	NM_017824	NP_060294	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	111	Helical; (Potential).				cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1						CTATCTATTGGACAGCTGTGA	0.393													A	94100524	G	A	94100524	4	1	153	1	0	0	0	0	0	1	0	0	9304	1183	41	4	343	4	MARCH5	10	94100524	Nonsense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	853043	94100524	41434223	60	82939											
OR52B6	340980	broad.mit.edu	37	chr11	5602826	5602826	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgtttcctacatccacatCctccaagcagtcttccgcct	4	17	1	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr11:5602826C>T	uc010qzi.1	+	1	720	c.720C>T	c.(718-720)ATC>ATT	p.I240I	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	240	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATCCACATCCTCCAAGCAG	0.502													T	5602826	C	T	5602826	2	4	153	1	0	0	0	0	0	0	0	1	11113	845	30	4		4	OR52B6	11	5602826	Silent	SNP	C	TCGA-CD-A486-01A-11D-A24D-08		5602826	129403690	61	82940											
FAR1	84188	broad.mit.edu	37	chr11	13743296	13743296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggatgatgaaaacaataactCgtcttcacaaagctatggtg	9	7	2	2			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr11:13743296C>T	uc001mld.2	+	10	1302	c.1147C>T	c.(1147-1149)CGT>TGT	p.R383C		NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	383					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			ovary(1)|skin(1)	2						AACAATAACTCGTCTTCACAA	0.338													T	13743296	C	T	13743296	3	4	153	1	0	0	0	0	1	0	0	0	5674	884	31	1	1181	1	FAR1	11	13743296	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	8140470	13743296	121263220	62	82941											
SAAL1	113174	broad.mit.edu	37	chr11	18124855	18124855	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctccgtcagctgctcctcAtcatctgagctagatttggt	9	12	4	2			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr11:18124855A>G	uc001mnq.2	-	2	224	c.174T>C	c.(172-174)GAT>GAC	p.D58D	SAAL1_uc001mnr.2_Silent_p.D58D|SAAL1_uc001mns.2_RNA|SAAL1_uc009yhf.2_Silent_p.D58D	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	58					acute-phase response	extracellular region	binding				0						GCTGCTCCTCATCATCTGAGC	0.398													G	18124855	A	G	18124855	2	3	153	1	0	0	0	0	0	0	0	1	13801	214	8	3		3	SAAL1	11	18124855	Silent	SNP	A	TCGA-CD-A486-01A-11D-A24D-08	4381559	18124855	116881661	63	82942											
MRGPRX3	117195	broad.mit.edu	37	chr11	18159092	18159092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggcctaagcatgctgagcGccatcagcaccgagcgctgc	12	14	1	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr11:18159092G>A	uc001mnu.2	+	3	704	c.343G>A	c.(343-345)GCC>ACC	p.A115T		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	115	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						CATGCTGAGCGCCATCAGCAC	0.562													A	18159092	G	A	18159092	3	1	153	1	0	0	0	0	1	0	0	0	9768	1087	38	1	345	1	MRGPRX3	11	18159092	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	34237	18159092	116847424	64	82943											
FBXO3	26273	broad.mit.edu	37	chr11	33772191	33772191	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccagttgttgctacacattCtggatcgtgaacatatctag	8	10	2	1	rs149012624		TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr11:33772191C>A	uc001muz.2	-	8	854	c.826G>T	c.(826-828)GAA>TAA	p.E276*	FBXO3_uc010rej.1_5'UTR|FBXO3_uc001muy.2_Nonsense_Mutation_p.E163*|FBXO3_uc009ykb.2_RNA|FBXO3_uc001mva.1_Nonsense_Mutation_p.E276*|FBXO3_uc001mvb.1_Nonsense_Mutation_p.E271*|FBXO3_uc010rek.1_RNA	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	F-box only protein 3 isoform 1	276					proteolysis	nucleus	ubiquitin-protein ligase activity			pancreas(1)	1		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		GCTACACATTCTGGATCGTGA	0.353													A	33772191	C	A	33772191	4	1	153	1	0	0	0	0	0	1	0	0	5739	922	32	5	614	5	FBXO3	11	33772191	Nonsense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	15613099	33772191	101234325	65	82944											
OR4X1	390113	broad.mit.edu	37	chr11	48285725	48285725	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agatgttttccctccatttcTttggtggcactgaggccttt	9	10	1	2			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr11:48285725T>A	uc010rht.1	+	1	313	c.313T>A	c.(313-315)TTT>ATT	p.F105I		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X,	105	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3						CCTCCATTTCTTTGGTGGCAC	0.498													A	48285725	T	A	48285725	3	1	153	1	0	0	0	0	1	0	0	0	11084	1609	56	5	315	5	OR4X1	11	48285725	Missense_Mutation	SNP	T	TCGA-CD-A486-01A-11D-A24D-08	14513534	48285725	86720791	66	82945											
SSH3	54961	broad.mit.edu	37	chr11	67075666	67075666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgccaggctctggagctgCgcctggggctccccctccag	13	18	1	0	rs143770446		TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr11:67075666C>T	uc001okj.2	+	9	1085	c.907C>T	c.(907-909)CGC>TGC	p.R303C	SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Missense_Mutation_p.R157C	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3	303					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TCTGGAGCTGCGCCTGGGGCT	0.662													T	67075666	C	T	67075666	3	4	153	1	0	0	0	0	1	0	0	0	15185	768	27	1	941	1	SSH3	11	67075666	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	18789941	67075666	67930850	67	82946											
STARD10	10809	broad.mit.edu	37	chr11	72465974	72465982	+	In_Frame_Del	DEL	CGCCGCCCG	CGCCGCCCG	-													ggtgtcgtcgtcgctgccctCgccgcccgcgccgcccatcc							TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr11:72465973_72465981TCGCCGCCCG>T	uc001osy.3	-	6	1021_1029	c.837_845CGGGCGGCGA>A	c.(835-846)gcgggcggcgag>gcAg	p.GGE280del	ARAP1_uc001osv.3_Intron|STARD10_uc001osz.4_In_Frame_Del_p.GGE280del|STARD10_uc001ota.3_In_Frame_Del_p.GGE234del|STARD10_uc001otb.3_In_Frame_Del_p.GGE280del|ARAP1_uc001osu.3_5'Flank	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 10 (STARD10), mRNA.	280										endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			GTCGCTGCCCTCGCCGCCCGCGCCGCCCA	0.718													-	72465982	CGCCGCCCG	-	72465974	7	5	153	1	0	1	0	1	0	0	0	0	15254	893	31	0	35	0	STARD10	11	72465974	In_Frame_Del	DEL	CGCCGCCCG	TCGA-CD-A486-01A-11D-A24D-08	5390308	72465974	62540542	68	82947											
OR8B4	283162	broad.mit.edu	37	chr11	124294393	124294393	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgtagagcagggggttgcaGatggccacatagcgatcata	14	7	1	2			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr11:124294393G>A	uc010sak.1	-	1	375	c.375C>T	c.(373-375)ATC>ATT	p.I125I		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	125	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGGGGTTGCAGATGGCCACAT	0.483													A	124294393	G	A	124294393	2	1	153	1	0	0	0	0	0	0	0	1	11229	932	33	4		4	OR8B4	11	124294393	Silent	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	51828419	124294393	10712123	69	82948											
MRPL51	51258	broad.mit.edu	37	chr12	6602054	6602054	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcccgatgttgtcatacactCcgaacatggcccttttctcg	7	14	2	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr12:6602054C>A	uc001qom.2	-	2	333	c.164G>T	c.(163-165)GGA>GTA	p.G55V	MRPL51_uc001qon.1_RNA|NCAPD2_uc009zen.1_5'Flank|NCAPD2_uc001qoo.2_5'Flank|NCAPD2_uc010sfd.1_5'Flank	NM_016497	NP_057581	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51 precursor	55					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome				0						GTCATACACTCCGAACATGGC	0.507													A	6602054	C	A	6602054	3	1	153	1	0	0	0	0	1	0	0	0	9815	855	30	5	230	5	MRPL51	12	6602054	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08		6602054	127249841	70	82949											
CD163	9332	broad.mit.edu	37	chr12	7647955	7647955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaactgtcccagcacagCggctgcctccacctctaagt	7	18	2	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr12:7647955C>T	uc001qsz.3	-	6	1270	c.1142G>A	c.(1141-1143)CGC>CAC	p.R381H	CD163_uc001qta.3_Missense_Mutation_p.R381H|CD163_uc009zfw.2_Missense_Mutation_p.R381H	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	381	SRCR 4.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						CCCAGCACAGCGGCTGCCTCC	0.493													T	7647955	C	T	7647955	3	4	153	1	0	0	0	0	1	0	0	0	2967	768	27	1	2372	1	CD163	12	7647955	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	1045901	7647955	126203940	71	82950											
PKP2	5318	broad.mit.edu	37	chr12	32949048	32949048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgaaggacttacgcatcGcctgcactaatggccataat	8	11	0	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr12:32949048G>A	uc001rlj.3	-	12	2599	c.2484C>T	c.(2482-2484)GGC>GGT	p.G828G	PKP2_uc001rlk.3_Silent_p.G784G|PKP2_uc010skj.1_Silent_p.G781G	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	828	ARM 8.				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTTACGCATCGCCTGCACTAA	0.493													A	32949048	G	A	32949048	2	1	153	1	0	0	0	0	0	0	0	1	11985	1074	38	1		1	PKP2	12	32949048	Silent	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	25301093	32949048	100902847	72	82951											
UTP20	27340	broad.mit.edu	37	chr12	101776879	101776879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tactggaactttattgtgagGataagcaaagtaagataaaa	9	3	0	2			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr12:101776879G>A	uc001tia.1	+	59	7873	c.7717G>A	c.(7717-7719)GAT>AAT	p.D2573N		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2573					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						TTATTGTGAGGATAAGCAAAG	0.408													A	101776879	G	A	101776879	3	1	153	1	0	0	0	0	1	0	0	0	17096	1174	41	4	7951	4	UTP20	12	101776879	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	68827831	101776879	32075016	73	82952											
NAA25	80018	broad.mit.edu	37	chr12	112485554	112485554	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcatcttcttctggccTaaggttcattgactttatac	6	9	5	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr12:112485554T>C	uc001ttm.2	-	17	1941	c.1921A>G	c.(1921-1923)AGG>GGG	p.R641G	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.R613G|NAA25_uc009zwa.1_Missense_Mutation_p.R641G	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	641						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						TCTTCTGGCCTAAGGTTCATT	0.328													C	112485554	T	C	112485554	3	2	153	1	0	0	0	0	1	0	0	0	10121	1521	53	3	1029	3	NAA25	12	112485554	Missense_Mutation	SNP	T	TCGA-CD-A486-01A-11D-A24D-08	10708675	112485554	21366341	74	82953											
GAS6	2621	broad.mit.edu	37	chr13	114531555	114531555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctcatggaagggaatacCtcccacggtcaggttcagat	10	11	3	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr13:114531555C>T	uc001vud.2	-	11	1426	c.1273G>A	c.(1273-1275)GGT>AGT	p.G425S	GAS6_uc001vug.2_Missense_Mutation_p.G126S|GAS6_uc001vuf.2_Missense_Mutation_p.G152S	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	468	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				AAGGGAATACCTCCCACGGTC	0.577													T	114531555	C	T	114531555	3	4	153	1	0	0	0	0	1	0	0	0	6249	681	24	4	783	4	GAS6	13	114531555	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08		114531555	638323	75	82954											
TEP1	7011	broad.mit.edu	37	chr14	20849163	20849163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccaccacatggaggttGgtaaggaacttcgaaagaag	13	8	0	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr14:20849163G>A	uc001vxe.2	-	33	4729	c.4689C>T	c.(4687-4689)ACC>ACT	p.T1563T	TEP1_uc010ahk.2_Silent_p.T906T|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.T1455T|TEP1_uc010tlh.1_5'UTR	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1563					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CATGGAGGTTGGTAAGGAACT	0.527													A	20849163	G	A	20849163	2	1	153	1	0	0	0	0	0	0	0	1	15756	1335	47	4		4	TEP1	14	20849163	Silent	SNP	G	TCGA-CD-A486-01A-11D-A24D-08		20849163	86500377	76	82955											
SYT16	83851	broad.mit.edu	37	chr14	62463017	62463017	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtggatcatttctcatgtTgtaatagtgatttgcaggac	10	5	2	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr14:62463017T>G	uc001xfu.1	+	1	477	c.280T>G	c.(280-282)TGT>GGT	p.C94G	SYT16_uc010tsd.1_Missense_Mutation_p.C94G	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	94										central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TTTCTCATGTTGTAATAGTGA	0.428													G	62463017	T	G	62463017	3	3	153	1	0	0	0	0	1	0	0	0	15469	1812	63	5	282	5	SYT16	14	62463017	Missense_Mutation	SNP	T	TCGA-CD-A486-01A-11D-A24D-08	41613854	62463017	44886523	77	82956											
SIPA1L1	26037	broad.mit.edu	37	chr14	72055914	72055914	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctggctcctttagtggatGtgaaagtgcctcctttgagt	11	8	1	2			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr14:72055914G>T	uc001xms.2	+	2	1673	c.1325G>T	c.(1324-1326)TGT>TTT	p.C442F	SIPA1L1_uc001xmt.2_Missense_Mutation_p.C442F|SIPA1L1_uc001xmu.2_Missense_Mutation_p.C442F|SIPA1L1_uc001xmv.2_Missense_Mutation_p.C442F	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	442					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTTAGTGGATGTGAAAGTGCC	0.453													T	72055914	G	T	72055914	3	4	153	1	0	0	0	0	1	0	0	0	14329	1377	48	5	1327	5	SIPA1L1	14	72055914	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	9592897	72055914	35293626	78	82957											
C14orf145	145508	broad.mit.edu	37	chr14	81382854	81382854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggactcaatcggtcacgaCagcggaagtgatctgattcg	12	9	3	2			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr14:81382854C>T	uc001xux.2	-	2	209	c.38G>A	c.(37-39)TGT>TAT	p.C13Y	C14orf145_uc001xuz.2_Missense_Mutation_p.C13Y|C14orf145_uc001xva.1_Missense_Mutation_p.C13Y|C14orf145_uc010ata.1_Missense_Mutation_p.C13Y	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	13						centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		TCGGTCACGACAGCGGAAGTG	0.423													T	81382854	C	T	81382854	3	4	153	1	0	0	0	0	1	0	0	0	1749	478	17	4	3338	4	C14orf145	14	81382854	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	9326940	81382854	25966686	79	82958											
RTL1	388015	broad.mit.edu	37	chr14	101348035	101348035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcattctcttcttcccCggattccgtcgatggatccc	6	15	4	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr14:101348035C>T	uc010txj.1	-	1	3150	c.3091G>A	c.(3091-3093)GGG>AGG	p.G1031R	MIR433_hsa-mir-433|MI0001723_5'Flank|uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	1031										pancreas(1)	1						TCTTCTTCCCCGGATTCCGTC	0.562													T	101348035	C	T	101348035	3	4	153	1	0	0	0	0	1	0	0	0	13724	652	23	1	989	1	RTL1	14	101348035	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	19965181	101348035	6001505	80	82959											
MKRN3	7681	broad.mit.edu	37	chr15	23811448	23811448	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgcctgtgattggctcGgctgctgaaaggggtttctt	13	9	1	2			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr15:23811448G>A	uc001ywh.3	+	1	995	c.519G>A	c.(517-519)TCG>TCA	p.S173S	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.S173S	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	173						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGATTGGCTCGGCTGCTGAAA	0.612													A	23811448	G	A	23811448	2	1	153	1	0	0	0	0	0	0	0	1	9608	1103	39	1		1	MKRN3	15	23811448	Silent	SNP	G	TCGA-CD-A486-01A-11D-A24D-08		23811448	78719944	81	82960											
C15orf2	23742	broad.mit.edu	37	chr15	24921169	24921169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctttccgcggcctgttccGccggaacgcccgtcgcaggc	12	19	0	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr15:24921169G>A	uc001ywo.2	+	1	629	c.155G>A	c.(154-156)CGC>CAC	p.R52H		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	52					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GGCCTGTTCCGCCGGAACGCC	0.756													A	24921169	G	A	24921169	3	1	153	1	0	0	0	0	1	0	0	0	1784	1087	38	1	157	1	C15orf2	15	24921169	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	1109721	24921169	77610223	82	82961											
HERC2	8924	broad.mit.edu	37	chr15	28511044	28511044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgcactgtaagtgctccCgcaagcgatgtgcaccacgt	12	14	0	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr15:28511044C>T	uc001zbj.2	-	13	1781	c.1675G>A	c.(1675-1677)GGG>AGG	p.G559R	HERC2_uc001zbl.1_Missense_Mutation_p.G254R	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	559	RCC1 1.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TAAGTGCTCCCGCAAGCGATG	0.617													T	28511044	C	T	28511044	3	4	153	1	0	0	0	0	1	0	0	0	7058	652	23	1	13153	1	HERC2	15	28511044	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	3589875	28511044	74020348	83	82962											
SERINC4	619189	broad.mit.edu	37	chr15	44087347	44087347	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcccagcatgaggcaaCcttgacccagaaggtggccc	13	14	0	3			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr15:44087347C>A	uc010bds.1	-	9	1144	c.676G>T	c.(676-678)GTT>TTT	p.V226F	ELL3_uc001zsx.1_Intron|SERF2_uc010uee.1_3'UTR|C15orf63_uc001ztb.2_Intron|SERF2_uc001zsz.3_3'UTR|MIR1282_hsa-mir-1282|MI0006429_5'Flank|SERINC4_uc001ztc.1_RNA|SERINC4_uc001ztd.1_Missense_Mutation_p.R113S|SERINC4_uc001zte.1_Missense_Mutation_p.V226F	NM_001033517	NP_001028689	A6NH21	SERC4_HUMAN	serine incorporator 4	470	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane					0		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		CATGAGGCAACCTTGACCCAG	0.552													A	44087347	C	A	44087347	3	1	153	1	0	0	0	0	1	0	0	0	14082	507	18	5	152	5	SERINC4	15	44087347	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	15576303	44087347	58444045	84	82963											
EIF3J	8669	broad.mit.edu	37	chr15	44853224	44853224	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcatctttagcaaagcaaAgccaaaaagaagaagaaagg	8	6	2	3			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr15:44853224A>G	uc001ztv.2	+	8	781	c.654A>G	c.(652-654)AAA>AAG	p.K218K	EIF3J_uc010ueg.1_Silent_p.K164K|EIF3J_uc001ztw.2_Silent_p.K169K	NM_003758	NP_003749	O75822	EIF3J_HUMAN	eukaryotic translation initiation factor 3,	218	Poly-Lys.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity				0		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		AGCAAAGCAAAGCCAAAAAGA	0.408													G	44853224	A	G	44853224	2	3	153	1	0	0	0	0	0	0	0	1	5020	69	3	3		3	EIF3J	15	44853224	Silent	SNP	A	TCGA-CD-A486-01A-11D-A24D-08	765877	44853224	57678168	85	82964											
FBN1	2200	broad.mit.edu	37	chr15	48784739	48784739	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccctagtgttaacacacaGgccatttttacacactcctg	5	15	0	0	rs149681175		TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr15:48784739G>T	uc001zwx.1	-	24	3101	c.2773C>A	c.(2773-2775)CTG>ATG	p.L925M		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	925	EGF-like 14; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTAACACACAGGCCATTTTTA	0.358													T	48784739	G	T	48784739	3	4	153	1	0	0	0	0	1	0	0	0	5702	991	35	5	6014	5	FBN1	15	48784739	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	3931515	48784739	53746653	86	82965											
KIAA1024	23251	broad.mit.edu	37	chr15	79748755	79748755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcagcagatattgtgaCgatattcaacctgatccaaa	10	8	1	3			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr15:79748755C>T	uc002bew.1	+	2	341	c.266C>T	c.(265-267)ACG>ATG	p.T89M	KIAA1024_uc010unk.1_Missense_Mutation_p.T89M	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	89						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						GATATTGTGACGATATTCAAC	0.478													T	79748755	C	T	79748755	3	4	153	1	0	0	0	0	1	0	0	0	8205	536	19	1	268	1	KIAA1024	15	79748755	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	30964016	79748755	22782637	87	82966											
PEX11A	8800	broad.mit.edu	37	chr15	90227164	90227164	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgtatagcatgtaccacaTtgcctagtctgaaccctgca	7	13	1	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr15:90227164T>A	uc002boi.2	-	3	283	c.188A>T	c.(187-189)AAT>ATT	p.N63I	PEX11A_uc010upy.1_RNA	NM_003847	NP_003838	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	63	Cytoplasmic (Potential).				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane					0	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ATGTACCACATTGCCTAGTCT	0.448													A	90227164	T	A	90227164	3	1	153	1	0	0	0	0	1	0	0	0	11737	1493	52	5	559	5	PEX11A	15	90227164	Missense_Mutation	SNP	T	TCGA-CD-A486-01A-11D-A24D-08	10478409	90227164	12304228	88	82967											
KCTD13	253980	broad.mit.edu	37	chr16	29922419	29922419	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccaggacatccttgaggaaGagtagccgcccgtggaagcg	14	12	0	2			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr16:29922419G>T	uc002duv.2	-	5	824	c.633C>A	c.(631-633)CTC>CTA	p.L211L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Intron|ASPHD1_uc010bzi.2_Intron|KCTD13_uc010vee.1_RNA	NM_178863	NP_849194	Q8WZ19	BACD1_HUMAN	potassium channel tetramerisation domain	211					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity				0						CCTTGAGGAAGAGTAGCCGCC	0.587													T	29922419	G	T	29922419	2	4	153	1	0	0	0	0	0	0	0	1	8100	929	33	5		5	KCTD13	16	29922419	Silent	SNP	G	TCGA-CD-A486-01A-11D-A24D-08		29922419	60432334	89	82968											
ADAD2	161931	broad.mit.edu	37	chr16	84228751	84228751	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgttggacgagcgctcGccatactgggcctgtaaggg	14	12	0	0	rs73252701	byFrequency	TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr16:84228751G>A	uc002fhr.2	+	4	798	c.684G>A	c.(682-684)TCG>TCA	p.S228S	ADAD2_uc002fhq.2_Silent_p.S300S|uc002fhs.1_5'UTR	NM_001145400	NP_001138872	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2 isoform	228					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding				0						ACGAGCGCTCGCCATACTGGG	0.682													A	84228751	G	A	84228751	2	1	153	1	0	0	0	0	0	0	0	1	232	1074	38	1		1	ADAD2	16	84228751	Silent	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	54306332	84228751	6126002	90	82969											
ATP2C2	9914	broad.mit.edu	37	chr16	84456240	84456240	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctcctggacacagggggtCgtgattggaacaggggaaag	16	8	1	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr16:84456240C>T	uc002fhx.2	+	9	869	c.780C>T	c.(778-780)GTC>GTT	p.V260V	ATP2C2_uc010chj.2_Silent_p.V260V|ATP2C2_uc002fhy.2_Silent_p.V277V|ATP2C2_uc002fhz.2_Silent_p.V109V	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	260	Extracellular (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2						CACAGGGGGTCGTGATTGGAA	0.567													T	84456240	C	T	84456240	2	4	153	1	0	0	0	0	0	0	0	1	1144	871	31	1		1	ATP2C2	16	84456240	Silent	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	227489	84456240	5898513	91	82970											
INPP5K	51763	broad.mit.edu	37	chr17	1411489	1411489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caacccaaagtcctcgatccGaaagttcatgtctccaaacc	5	15	2	0	rs141189913		TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr17:1411489G>A	uc002fsr.2	-	6	975	c.586C>T	c.(586-588)CGG>TGG	p.R196W	INPP5K_uc002fss.2_Missense_Mutation_p.R120W|INPP5K_uc002fsq.2_Missense_Mutation_p.R120W|INPP5K_uc010cjr.2_Missense_Mutation_p.R120W|INPP5K_uc010vql.1_Missense_Mutation_p.R104W|INPP5K_uc010vqm.1_Intron	NM_016532	NP_057616	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K isoform	196	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding				0						TCCTCGATCCGAAAGTTCATG	0.512													A	1411489	G	A	1411489	3	1	153	1	0	0	0	0	1	0	0	0	7760	1057	37	1	788	1	INPP5K	17	1411489	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08		1411489	79783721	92	82971											
TP53	7157	broad.mit.edu	37	chr17	7578382	7578399	+	In_Frame_Del	DEL	GAGCAGCGCTCATGGTGG	GAGCAGCGCTCATGGTGG	-													gctgctcaccatcgctatctGagcagcgctcatggtggggg					rs138525931	by1000genomes	TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr17:7578382_7578399delGAGCAGCGCTCATGGTGG	uc002gim.2	-	5	725_742	c.531_548delCCACCATGAGCGCTGCTC	c.(529-549)CCCCACCATGAGCGCTGCTCA>CCA	p.HHERCS178del	TP53_uc002gig.1_In_Frame_Del_p.HHERCS178del|TP53_uc002gih.2_In_Frame_Del_p.HHERCS178del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.HHERCS46del|TP53_uc010cng.1_In_Frame_Del_p.HHERCS46del|TP53_uc002gii.1_In_Frame_Del_p.HHERCS46del|TP53_uc010cnh.1_In_Frame_Del_p.HHERCS178del|TP53_uc010cni.1_In_Frame_Del_p.HHERCS178del|TP53_uc002gij.2_In_Frame_Del_p.HHERCS178del|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_In_Frame_Del_p.HHERCS85del|TP53_uc002gio.2_In_Frame_Del_p.HHERCS46del|TP53_uc010vug.1_In_Frame_Del_p.HHERCS139del	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	178_183	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		S -> P (in sporadic cancers; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(98)|p.H179Y(74)|p.H179L(31)|p.S183*(21)|p.R181H(20)|p.H179Q(17)|p.R181P(14)|p.R181C(13)|p.H178fs*69(13)|p.H179N(13)|p.E180*(13)|p.H179D(10)|p.P177P(10)|p.P177_C182delPHHERC(8)|p.H178Y(8)|p.C182S(8)|p.0?(7)|p.H178P(6)|p.C182*(5)|p.E180K(5)|p.H178fs*3(5)|p.H178Q(5)|p.H178D(4)|p.R181L(3)|p.C176_R181delCPHHER(3)|p.R175_E180delRCPHHE(3)|p.R174fs*24(3)|p.E180D(3)|p.H179P(3)|p.S183P(3)|p.H178N(3)|p.H179fs*68(2)|p.R181R(2)|p.H179H(2)|p.P177fs*3(2)|p.H178H(2)|p.V173fs*59(2)|p.?(2)|p.S183L(2)|p.C182R(2)|p.C182Y(2)|p.R174fs*1(2)|p.C182C(2)|p.K164_P219del(1)|p.R49P(1)|p.C176fs*65(1)|p.R181G(1)|p.E180fs*67(1)|p.C176fs*68(1)|p.V173fs*23(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.P177H(1)|p.R174_H179delRRCPHH(1)|p.H168fs*69(1)|p.H178L(1)|p.H179del(1)|p.E180G(1)|p.V173fs*69(1)|p.R181>XXXXXXX(1)|p.E180Q(1)|p.R88P(1)|p.P177fs*69(1)|p.C176_P177delCP(1)|p.C182fs*4(1)|p.R81fs*24(1)|p.E180>DGRCPHQ(1)|p.H178del(1)|p.R174_E180>K(1)|p.P177_H179delPHH(1)|p.R174_H178>S(1)|p.P177L(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.C182fs*65(1)|p.E180_S183del(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171_H179delEVVRRCPHH(1)|p.E180fs*6(1)|p.E171fs*61(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCC	0.638		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			-	7578399	GAGCAGCGCTCATGGTGG	-	7578382	7	5	153	1	0	1	0	1	0	0	0	0	16378	1294	45	0	750	0	TP53	17	7578382	In_Frame_Del	DEL	GAGCAGCGCTCATGGTGG	TCGA-CD-A486-01A-11D-A24D-08	6166893	7578382	73616828	93	82972											
SARM1	23098	broad.mit.edu	37	chr17	26711555	26711555	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gttcagacgtggctgcagcaGatcggtttctccaagtactg	12	10	2	2			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr17:26711555G>C	uc010crl.1	+	6	1336	c.1269G>C	c.(1267-1269)CAG>CAC	p.Q423H	SARM1_uc010waj.1_RNA|SARM1_uc002hbe.1_5'Flank	NM_015077	NP_055892	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	423	SAM 1.				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity				0	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GGCTGCAGCAGATCGGTTTCT	0.682													C	26711555	G	C	26711555	3	2	153	1	0	0	0	0	1	0	0	0	13842	933	33	5	1277	5	SARM1	17	26711555	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	19133173	26711555	54483655	94	82973											
TMEM132E	124842	broad.mit.edu	37	chr17	32964419	32964419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgccagaaaaccaaacGcaagagtgtgctcgccacga	11	12	0	2			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr17:32964419G>A	uc002hif.2	+	10	2451	c.2123G>A	c.(2122-2124)CGC>CAC	p.R708H		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	708	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		AAAACCAAACGCAAGAGTGTG	0.652													A	32964419	G	A	32964419	3	1	153	1	0	0	0	0	1	0	0	0	16045	1087	38	1	2161	1	TMEM132E	17	32964419	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	6252864	32964419	48230791	95	82974											
KRT25	147183	broad.mit.edu	37	chr17	38906791	38906791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatctgagcctggatctgcGccagctgcgcacagtagttg	13	12	2	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr17:38906791G>A	uc002hve.2	-	6	1077	c.1016C>T	c.(1015-1017)GCG>GTG	p.A339V		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	339	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)				CTGGATCTGCGCCAGCTGCGC	0.562													A	38906791	G	A	38906791	3	1	153	1	0	0	0	0	1	0	0	0	8462	1087	38	1	348	1	KRT25	17	38906791	Missense_Mutation	SNP	G	TCGA-CD-A486-01A-11D-A24D-08	5942372	38906791	42288419	96	82975											
ABCA10	10349	broad.mit.edu	37	chr17	67170746	67170746	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaaaaaatgatcacttAccaaaacaaacatgagttcc	6	8	1	2			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr17:67170746A>G	uc010dfa.1	-	25	3927	c.3048_splice	c.e25+1	p.L1016_splice	ABCA10_uc010wqs.1_Intron|ABCA10_uc010wqt.1_Splice_Site	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10						transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					ATGATCACTTACCAAAACAAA	0.294													G	67170746	A	G	67170746	5	3	153	1	0	0	0	0	0	0	1	0	29	405	14	3	1645	3	ABCA10	17	67170746	Splice_Site	SNP	A	TCGA-CD-A486-01A-11D-A24D-08	28263955	67170746	14024464	97	82976											
LGALS3BP	3959	broad.mit.edu	37	chr17	76972185	76972185	+	Frame_Shift_Del	DEL	G	G	-													tctgtagaagatctccacgcGgccctggttggtggcgcccc							TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr17:76972185delG	uc002jwh.2	-	3	285	c.106delC	c.(106-108)CGCfs	p.R36fs	LGALS3BP_uc002jwi.2_5'UTR|LGALS3BP_uc010dhr.2_Intron	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	galectin 3 binding protein	36	SRCR.			R -> L (in Ref. 4; AA sequence).|R -> H (in Ref. 5; AA sequence).	cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			central_nervous_system(3)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ATCTCCACGCGGCCCTGGTTG	0.667													-	76972185	G	-	76972185	7	5	153	1	0	1	0	1	0	0	0	0	8744	1116	39	0	1667	0	LGALS3BP	17	76972185	Frame_Shift_Del	DEL	G	TCGA-CD-A486-01A-11D-A24D-08	9801439	76972185	4223025	98	82977											
DSEL	92126	broad.mit.edu	37	chr18	65181636	65181636	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcattgcttggatttcTccagcatcaaaatataaact	5	9	3	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr18:65181636T>C	uc002lke.1	-	2	1464	c.240A>G	c.(238-240)GGA>GGG	p.G80G		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	70						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				CTTGGATTTCTCCAGCATCAA	0.378													C	65181636	T	C	65181636	2	2	153	1	0	0	0	0	0	0	0	1	4775	1538	54	3		3	DSEL	18	65181636	Silent	SNP	T	TCGA-CD-A486-01A-11D-A24D-08		65181636	12895612	99	82978											
ANO8	57719	broad.mit.edu	37	chr19	17435646	17435646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatctggccgggcctgccCgcccgccccgttggacccag	12	21	1	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr19:17435646C>T	uc002ngf.2	-	17	3370	c.3211G>A	c.(3211-3213)GGG>AGG	p.G1071R	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	1071	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(3)	3						CGGGCCTGCCCGCCCGCCCCG	0.711													T	17435646	C	T	17435646	3	4	153	1	0	0	0	0	1	0	0	0	703	652	23	1	495	1	ANO8	19	17435646	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08		17435646	41693337	100	82979											
SEL1L2	80343	broad.mit.edu	37	chr20	13830887	13830887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagtttccagtttcatgaCggcaaagagcacaggtatgt	11	8	1	2			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr20:13830887C>T	uc010gcf.2	-	19	1979	c.1897G>A	c.(1897-1899)GTC>ATC	p.V633I	SEL1L2_uc002woq.3_Missense_Mutation_p.V494I|SEL1L2_uc010zrl.1_Missense_Mutation_p.V520I|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	633	Extracellular (Potential).					integral to membrane	binding			ovary(2)	2						AGTTTCATGACGGCAAAGAGC	0.458													T	13830887	C	T	13830887	3	4	153	1	0	0	0	0	1	0	0	0	14011	536	19	1	177	1	SEL1L2	20	13830887	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08		13830887	49194633	101	82980											
CHD6	84181	broad.mit.edu	37	chr20	40033524	40033524	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggatgggtaaatgagtccAggagatactcctgggatgag	15	5	0	3			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr20:40033524A>C	uc002xka.1	-	37	8035	c.7857T>G	c.(7855-7857)CCT>CCG	p.P2619P	CHD6_uc002xjz.1_Silent_p.P156P	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2619					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				AAATGAGTCCAGGAGATACTC	0.512													C	40033524	A	C	40033524	2	2	153	1	0	0	0	0	0	0	0	1	3329	175	7	5		5	CHD6	20	40033524	Silent	SNP	A	TCGA-CD-A486-01A-11D-A24D-08	26202637	40033524	22991996	102	82981											
NRIP1	8204	broad.mit.edu	37	chr21	16339457	16339457	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atttttaggggaagaaggaaTgatacccattggattttgaa	11	3	0	3			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr21:16339457T>A	uc002yjx.2	-	4	1655	c.1057A>T	c.(1057-1059)ATT>TTT	p.I353F		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	353					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GAAGAAGGAATGATACCCATT	0.363													A	16339457	T	A	16339457	3	1	153	1	0	0	0	0	1	0	0	0	10652	1464	51	5	2423	5	NRIP1	21	16339457	Missense_Mutation	SNP	T	TCGA-CD-A486-01A-11D-A24D-08		16339457	31790438	103	82982											
SLC5A1	6523	broad.mit.edu	37	chr22	32498054	32498054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttctgattgggatttcaCgtatgattactgagtttgct	10	6	2	3			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr22:32498054C>T	uc003amc.2	+	13	1727	c.1495C>T	c.(1495-1497)CGT>TGT	p.R499C	SLC5A1_uc011alz.1_Missense_Mutation_p.R372C	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	499	Helical; (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						TGGGATTTCACGTATGATTAC	0.473													T	32498054	C	T	32498054	3	4	153	1	0	0	0	0	1	0	0	0	14661	536	19	1	1545	1	SLC5A1	22	32498054	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08		32498054	18806512	104	82983											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685967	125685967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtcgcgggagccgctcaCggctacggtgtcactcagcc	14	16	3	0			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chrX:125685967C>T	uc004eul.2	-	1	876	c.625G>A	c.(625-627)GTG>ATG	p.V209M		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	209	WD 2.									skin(3)|ovary(1)	4						GAGCCGCTCACGGCTACGGTG	0.652													T	125685967	C	T	125685967	3	4	153	1	0	0	0	0	1	0	0	0	4264	536	19	1	770	1	DCAF12L1	23	125685967	Missense_Mutation	SNP	C	TCGA-CD-A486-01A-11D-A24D-08		125685967	29584593	105	82984											
BCORL1	63035	broad.mit.edu	37	chrX	129190051	129190051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtggagctggtgcggtaCgagccagacctacttcggct	14	11	0	1			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chrX:129190051C>T	uc004evb.1	+	13	5190	c.5076C>T	c.(5074-5076)TAC>TAT	p.Y1692Y	BCORL1_uc004evc.1_Silent_p.Y528Y	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1692					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						TGGTGCGGTACGAGCCAGACC	0.607													T	129190051	C	T	129190051	2	4	153	1	0	0	0	0	0	0	0	1	1387	547	19	1		1	BCORL1	23	129190051	Silent	SNP	C	TCGA-CD-A486-01A-11D-A24D-08	3504084	129190051	26080509	106	82985											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507272	74507272	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctaactctttctcgagcaActtgtgccatggctacaact	6	13	3	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:74507272A>C	uc001dfy.3	-	7	1535	c.1343T>G	c.(1342-1344)GTT>GGT	p.V448G	LRRIQ3_uc001dfz.3_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	448										ovary(2)	2						TTCTCGAGCAACTTGTGCCAT	0.318													C	74507272	A	C	74507272	3	2	154	1	0	0	0	0	1	0	0	0	9030	43	2	5	539	5	LRRIQ3	1	74507272	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08		74507272	174743349	1	82986											
LPAR3	23566	broad.mit.edu	37	chr1	85331706	85331706	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaacgtcccaacacacaaaAcaatcacaagctttgttcct	3	13	1	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:85331706A>C	uc001dkl.2	-	1	137	c.98T>G	c.(97-99)GTT>GGT	p.V33G	LPAR3_uc009wcj.1_Missense_Mutation_p.V33G	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	33	Helical; Name=1; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				lung(3)|ovary(2)	5						AACACACAAAACAATCACAAG	0.378													C	85331706	A	C	85331706	3	2	154	1	0	0	0	0	1	0	0	0	8906	43	2	5	971	5	LPAR3	1	85331706	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	10824434	85331706	163918915	2	82987											
AMIGO1	57463	broad.mit.edu	37	chr1	110051073	110051073	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagctgggccatgtcatcGaaggcgcaccggtccaccgc	13	15	1	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:110051073G>A	uc001dxx.3	-	2	844	c.462C>T	c.(460-462)TTC>TTT	p.F154F		NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	AMIGO protein precursor	154	LRR 4.|Extracellular (Potential).				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				ovary(1)|breast(1)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CCATGTCATCGAAGGCGCACC	0.537													A	110051073	G	A	110051073	2	1	154	1	0	0	0	0	0	0	0	1	575	1049	37	1		1	AMIGO1	1	110051073	Silent	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	24719367	110051073	139199548	3	82988											
C1orf161	126868	broad.mit.edu	37	chr1	116670948	116670948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaggccggttatcacgtcCcaccatctgcaggtgagtgt	11	12	2	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:116670948C>T	uc001egc.1	+	6	1108	c.843C>T	c.(841-843)TCC>TCT	p.S281S		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	hypothetical protein LOC126868	281											0	Lung SC(450;0.184)	all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTATCACGTCCCACCATCTGC	0.587													T	116670948	C	T	116670948	2	4	154	1	0	0	0	0	0	0	0	1	2009	610	22	4		4	C1orf161	1	116670948	Silent	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	6619875	116670948	132579673	4	82989											
MTMR11	10903	broad.mit.edu	37	chr1	149903153	149903153	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catcccgaatcattctcaccTcttcactggccccagttccc	4	19	4	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:149903153T>A	uc001etl.3	-	13	1540	c.1289A>T	c.(1288-1290)GAG>GTG	p.E430V	SF3B4_uc001etk.1_5'Flank|MTMR11_uc001etm.1_Missense_Mutation_p.E358V|MTMR11_uc010pbm.1_Intron|MTMR11_uc010pbn.1_3'UTR	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	430	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CATTCTCACCTCTTCACTGGC	0.498													A	149903153	T	A	149903153	3	1	154	1	0	0	0	0	1	0	0	0	9940	1565	54	5	899	5	MTMR11	1	149903153	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	33232205	149903153	99347468	5	82990											
ARNT	405	broad.mit.edu	37	chr1	150786667	150786667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtctgaaagctgcccaCaccaaactgggaagtacgag	12	10	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:150786667C>T	uc001evr.1	-	20	2142	c.1999G>A	c.(1999-2001)GTG>ATG	p.V667M	ARNT_uc010pck.1_Missense_Mutation_p.V155M|ARNT_uc001evs.1_Missense_Mutation_p.V652M|ARNT_uc009wmb.1_Missense_Mutation_p.V653M|ARNT_uc009wmc.1_Missense_Mutation_p.V665M|ARNT_uc009wmd.1_Missense_Mutation_p.V651M	NM_001668	NP_001659	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	667					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			skin(4)|lung(3)|central_nervous_system(1)|kidney(1)	9	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAGCTGCCCACACCAAACTGG	0.527			T	ETV6	AML								T	150786667	C	T	150786667	3	4	154	1	0	0	0	0	1	0	0	0	965	478	17	4	382	4	ARNT	1	150786667	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	883514	150786667	98463954	6	82991											
FLG2	388698	broad.mit.edu	37	chr1	152327266	152327266	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccagaaccatgttggccaTaattagactgacttgatcta	8	9	1	4			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:152327266T>C	uc001ezw.3	-	3	3069	c.2996A>G	c.(2995-2997)TAT>TGT	p.Y999C	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	999	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTTGGCCATAATTAGACTG	0.488													C	152327266	T	C	152327266	3	2	154	1	0	0	0	0	1	0	0	0	5923	1406	49	3	4183	3	FLG2	1	152327266	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	1540599	152327266	96923355	7	82992											
IVL	3713	broad.mit.edu	37	chr1	152882716	152882716	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgagcaactgggaatgaAgaaagagcaactgttggagc	14	5	0	5			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:152882716A>C	uc001fau.2	+	2	489	c.443A>C	c.(442-444)AAG>ACG	p.K148T		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	148					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(3)	3	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGGGAATGAAGAAAGAGCAA	0.299													C	152882716	A	C	152882716	3	2	154	1	0	0	0	0	1	0	0	0	7929	72	3	5	445	5	IVL	1	152882716	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	555450	152882716	96367905	8	82993											
NPR1	4881	broad.mit.edu	37	chr1	153661760	153661760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacattgtgggtttcacagcGctgtcggcggagagcacacc	14	11	1	1	rs141781853		TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:153661760G>A	uc001fcs.3	+	17	3082	c.2661G>A	c.(2659-2661)GCG>GCA	p.A887A	NPR1_uc010pdz.1_Silent_p.A633A|NPR1_uc010pea.1_Silent_p.A365A	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	887	Guanylate cyclase.|Cytoplasmic (Potential).				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|stomach(1)|breast(1)	7	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GTTTCACAGCGCTGTCGGCGG	0.582													A	153661760	G	A	153661760	2	1	154	1	0	0	0	0	0	0	0	1	10594	1074	38	1		1	NPR1	1	153661760	Silent	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	779044	153661760	95588861	9	82994											
SPTA1	6708	broad.mit.edu	37	chr1	158654936	158654936	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatagctcttatcggttaAgatattgactttctccatga	6	8	3	3			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:158654936A>C	uc001fst.1	-	2	425	c.226T>G	c.(226-228)TTA>GTA	p.L76V		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	76	Spectrin 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TTATCGGTTAAGATATTGACT	0.284													C	158654936	A	C	158654936	3	2	154	1	0	0	0	0	1	0	0	0	15115	69	3	5	7237	5	SPTA1	1	158654936	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	4993176	158654936	90595685	10	82995											
IFI16	3428	broad.mit.edu	37	chr1	159015246	159015246	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caacaccaagcagcagtttcTtaaccacggtacaagttccc	6	14	1	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:159015246T>G	uc010pis.1	+	7	1500	c.1321T>G	c.(1321-1323)TTA>GTA	p.L441V	IFI16_uc001ftg.2_Intron|IFI16_uc001fth.2_Intron|IFI16_uc010pit.1_Missense_Mutation_p.L96V	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	497					cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)					CAGCAGTTTCTTAACCACGGT	0.493													G	159015246	T	G	159015246	3	3	154	1	0	0	0	0	1	0	0	0	7511	1624	56	5		5	IFI16	1	159015246	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	360310	159015246	90235375	11	82996											
OR10J5	127385	broad.mit.edu	37	chr1	159505764	159505764	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaatcccaagaaaatgaAttctgacacttctgtgaagt	7	7	2	5			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:159505764A>C	uc010piw.1	-	1	34	c.34T>G	c.(34-36)TTC>GTC	p.F12V		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J,	12	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_hematologic(112;0.0429)					AAGAAAATGAATTCTGACACT	0.368													C	159505764	A	C	159505764	3	2	154	1	0	0	0	0	1	0	0	0	10912	101	4	5	897	5	OR10J5	1	159505764	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	490518	159505764	89744857	12	82997											
VANGL2	57216	broad.mit.edu	37	chr1	160389129	160389129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaaggcctcgctgccccGcgtctttgtgctgcgtgccc	12	18	1	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:160389129G>A	uc001fwb.1	+	5	829	c.530G>A	c.(529-531)CGC>CAC	p.R177H	VANGL2_uc001fwc.1_Missense_Mutation_p.R177H	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	177	Cytoplasmic (Potential).				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCGCTGCCCCGCGTCTTTGTG	0.627													A	160389129	G	A	160389129	3	1	154	1	0	0	0	0	1	0	0	0	17117	1087	38	1	540	1	VANGL2	1	160389129	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	883365	160389129	88861492	13	82998											
SELP	6403	broad.mit.edu	37	chr1	169582271	169582271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagtggaagctgcactgcGagttaaaagagaagtttccc	12	8	0	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:169582271G>A	uc001ggi.3	-	5	736	c.671C>T	c.(670-672)TCG>TTG	p.S224L	SELP_uc001ggh.2_Missense_Mutation_p.S59L|SELP_uc009wvr.2_Missense_Mutation_p.S224L	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	224	Extracellular (Potential).|Sushi 1.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GCTGCACTGCGAGTTAAAAGA	0.507													A	169582271	G	A	169582271	3	1	154	1	0	0	0	0	1	0	0	0	14019	1059	37	1	1869	1	SELP	1	169582271	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	9193142	169582271	79668350	14	82999											
PTPRC	5788	broad.mit.edu	37	chr1	198685876	198685876	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaatttaaaaccttatAcgaaatatgttttatcatta	3	5	1	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:198685876A>C	uc001gur.1	+	13	1531	c.1351A>C	c.(1351-1353)ACG>CCG	p.T451P	PTPRC_uc001gus.1_Missense_Mutation_p.T403P|PTPRC_uc001gut.1_Missense_Mutation_p.T290P|PTPRC_uc009wzf.1_Missense_Mutation_p.T339P|PTPRC_uc010ppg.1_Missense_Mutation_p.T387P	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	451	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						AAAACCTTATACGAAATATGT	0.313													C	198685876	A	C	198685876	3	2	154	1	0	0	0	0	1	0	0	0	12797	391	14	5	1408	5	PTPRC	1	198685876	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	29103605	198685876	50564745	15	83000											
NAV1	89796	broad.mit.edu	37	chr1	201751367	201751367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaatactgggctccaacGctcctcctctgatgctggtc	10	13	1	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:201751367G>A	uc001gwu.2	+	6	2074	c.1727G>A	c.(1726-1728)CGC>CAC	p.R576H	NAV1_uc001gwv.1_Missense_Mutation_p.R84H|NAV1_uc001gww.1_Missense_Mutation_p.R185H|NAV1_uc001gwx.2_Missense_Mutation_p.R185H|NAV1_uc001gwy.1_5'UTR	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	576					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						GGGCTCCAACGCTCCTCCTCT	0.552													A	201751367	G	A	201751367	3	1	154	1	0	0	0	0	1	0	0	0	10183	1087	38	1	1806	1	NAV1	1	201751367	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	3065491	201751367	47499254	16	83001											
PPP1R12B	4660	broad.mit.edu	37	chr1	202407143	202407143	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttctgctctactggacaaCaaagataaggtgcagtttgg	10	7	2	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:202407143C>A	uc001gya.1	+	10	1593	c.1449C>A	c.(1447-1449)AAC>AAA	p.N483K	PPP1R12B_uc001gxy.2_Missense_Mutation_p.N483K|PPP1R12B_uc009xad.1_Missense_Mutation_p.N289K|PPP1R12B_uc009xae.1_3'UTR|PPP1R12B_uc001gxz.1_Missense_Mutation_p.N483K	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	483					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			TACTGGACAACAAAGATAAGG	0.438													A	202407143	C	A	202407143	3	1	154	1	0	0	0	0	1	0	0	0	12355	477	17	5	1487	5	PPP1R12B	1	202407143	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	655776	202407143	46843478	17	83002											
PLXNA2	5362	broad.mit.edu	37	chr1	208257739	208257739	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttaccgagctgttctgacActgaacgctggagctgttga	11	10	2	3			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:208257739A>G	uc001hgz.2	-	10	3042	c.2284T>C	c.(2284-2286)TGT>CGT	p.C762R		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	762	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTGTTCTGACACTGAACGCTG	0.627													G	208257739	A	G	208257739	3	3	154	1	0	0	0	0	1	0	0	0	12120	159	6	3	3492	3	PLXNA2	1	208257739	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	5850596	208257739	40992882	18	83003											
USH2A	7399	broad.mit.edu	37	chr1	215914777	215914777	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtggcatccacttaatcTctatgcaagctgaccccagt	8	13	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:215914777T>C	uc001hku.1	-	60	12038	c.11651A>G	c.(11650-11652)GAG>GGG	p.E3884G		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3884	Fibronectin type-III 24.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCACTTAATCTCTATGCAAGC	0.378										HNSCC(13;0.011)			C	215914777	T	C	215914777	3	2	154	1	0	0	0	0	1	0	0	0	17033	1551	54	3	4009	3	USH2A	1	215914777	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	7657038	215914777	33335844	19	83004											
ESRRG	2104	broad.mit.edu	37	chr1	216850642	216850642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggagcagaagggtagagaGgtggcgagtcaagtccgttc	17	6	1	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:216850642G>A	uc001hkw.1	-	2	414	c.248C>T	c.(247-249)CCT>CTT	p.P83L	ESRRG_uc001hky.1_Missense_Mutation_p.P60L|ESRRG_uc009xdp.1_Missense_Mutation_p.P60L|ESRRG_uc001hkz.1_Missense_Mutation_p.P60L|ESRRG_uc010puc.1_Missense_Mutation_p.P60L|ESRRG_uc001hla.1_Missense_Mutation_p.P60L|ESRRG_uc001hlb.1_Missense_Mutation_p.P60L|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.P60L|ESRRG_uc001hld.1_Missense_Mutation_p.P60L|ESRRG_uc001hkx.1_Missense_Mutation_p.P88L|ESRRG_uc009xdo.1_Missense_Mutation_p.P60L|ESRRG_uc001hle.1_Missense_Mutation_p.P60L	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	83					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	AGGGTAGAGAGGTGGCGAGTC	0.552													A	216850642	G	A	216850642	3	1	154	1	0	0	0	0	1	0	0	0	5262	1000	35	4	1152	4	ESRRG	1	216850642	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	935865	216850642	32399979	20	83005											
CDC42BPA	8476	broad.mit.edu	37	chr1	227222430	227222430	+	Frame_Shift_Del	DEL	T	T	-													gcaatatcgtacagaaagagTttgaagtcacacactatagc							TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:227222429_227222429GT>G	uc001hqr.3	-	24	4241	c.3298_3298AC>C	c.(3298-3300)ctcfs	p.L1100fs	CDC42BPA_uc001hqq.3_Frame_Shift_Del_p.L399fs|CDC42BPA_uc001hqs.3_Frame_Shift_Del_p.L1019fs|CDC42BPA_uc009xes.3_Frame_Shift_Del_p.L1072fs|CDC42BPA_uc010pvs.2_Frame_Shift_Del_p.L1080fs|CDC42BPA_uc001hqp.3_Frame_Shift_Del_p.L256fs|CDC42BPA_uc001hqt.2_5'UTR|CDC42BPA_uc001hqu.1_Frame_Shift_Del_p.L307fs	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	1113	PH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TACAGAAAGAGTTTGAAGTCA	0.403													-	227222430	T	-	227222430	7	5	154	1	0	1	0	1	0	0	0	0	3072	1722	60	0	1910	0	CDC42BPA	1	227222430	Frame_Shift_Del	DEL	T	TCGA-CD-A487-01A-21D-A24D-08	10371788	227222430	22028191	21	83006											
OR2G3	81469	broad.mit.edu	37	chr1	247769014	247769014	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgacccttgtgggaaacTtcaccataatcatcatctca	5	13	4	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:247769014T>G	uc010pyz.1	+	1	127	c.127T>G	c.(127-129)TTC>GTC	p.F43V		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGTGGGAAACTTCACCATAAT	0.443													G	247769014	T	G	247769014	3	3	154	1	0	0	0	0	1	0	0	0	10999	1609	56	5	129	5	OR2G3	1	247769014	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	20546584	247769014	1481607	22	83007											
OR1C1	26188	broad.mit.edu	37	chr1	247920983	247920983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaccactgacaggtggcaGctgcaggtggaaacagctct	12	12	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:247920983G>A	uc010pza.1	-	1	726	c.726C>T	c.(724-726)AGC>AGT	p.S242S		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACAGGTGGCAGCTGCAGGTGG	0.527													A	247920983	G	A	247920983	2	1	154	1	0	0	0	0	0	0	0	1	10952	962	34	2		2	OR1C1	1	247920983	Silent	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	151969	247920983	1329638	23	83008											
OR2T6	254879	broad.mit.edu	37	chr1	248551653	248551653	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttcacacatgatggtggtGacattgttctatggggctgc	12	8	3	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:248551653G>A	uc001iei.1	+	1	744	c.744G>A	c.(742-744)GTG>GTA	p.V248V		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	248	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGATGGTGGTGACATTGTTCT	0.483													A	248551653	G	A	248551653	2	1	154	1	0	0	0	0	0	0	0	1	11029	1277	45	4		4	OR2T6	1	248551653	Silent	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	630670	248551653	698968	24	83009											
CLIP4	79745	broad.mit.edu	37	chr2	29404701	29404701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggagtcttagttcgacCgagcagagtgacctatcggg	13	10	1	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr2:29404701C>T	uc002rmv.2	+	16	2299	c.2060C>T	c.(2059-2061)CCG>CTG	p.P687L	CLIP4_uc002rmw.2_RNA	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	687										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					TTAGTTCGACCGAGCAGAGTG	0.423													T	29404701	C	T	29404701	3	4	154	1	0	0	0	0	1	0	0	0	3535	652	23	1	2118	1	CLIP4	2	29404701	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08		29404701	213794672	25	83010											
RASGRP3	25780	broad.mit.edu	37	chr2	33783389	33783389	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggtcactgcctggaagccCctcgctgcccccaggtaatg	12	15	1	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr2:33783389C>A	uc002rox.2	+	17	2318	c.1691C>A	c.(1690-1692)CCC>CAC	p.P564H	RASGRP3_uc010ync.1_Missense_Mutation_p.P564H|RASGRP3_uc002roy.2_Missense_Mutation_p.P563H	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and	564					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			lung(3)|ovary(1)|pancreas(1)	5	all_hematologic(175;0.115)					CCTGGAAGCCCCTCGCTGCCC	0.557													A	33783389	C	A	33783389	3	1	154	1	0	0	0	0	1	0	0	0	13076	623	22	5	1745	5	RASGRP3	2	33783389	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	4378688	33783389	209415984	26	83011											
FSHR	2492	broad.mit.edu	37	chr2	49195912	49195912	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccatgagggcgacaagcTtttccagagtaggcagcttt	11	10	0	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr2:49195912T>G	uc002rww.2	-	9	853	c.779A>C	c.(778-780)AAG>ACG	p.K260T	FSHR_uc002rwx.2_Intron|FSHR_uc010fbn.2_Missense_Mutation_p.K234T	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	260	Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GGCGACAAGCTTTTCCAGAGT	0.493									Gonadal_Dysgenesis_46_XX				G	49195912	T	G	49195912	3	3	154	1	0	0	0	0	1	0	0	0	6073	1609	56	5	1316	5	FSHR	2	49195912	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	15412523	49195912	194003461	27	83012											
KDM3A	55818	broad.mit.edu	37	chr2	86712978	86712978	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccccaagatgtataatgcTtatggtaaggaggagatggc	14	6	0	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr2:86712978T>G	uc002sri.3	+	21	3636	c.3309T>G	c.(3307-3309)GCT>GCG	p.A1103A	KDM3A_uc010ytj.1_Silent_p.A1103A|KDM3A_uc010ytk.1_Silent_p.A1051A	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	1103	JmjC.				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						TGTATAATGCTTATGGTAAGG	0.413													G	86712978	T	G	86712978	2	3	154	1	0	0	0	0	0	0	0	1	8126	1596	56	5		5	KDM3A	2	86712978	Silent	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	37517066	86712978	156486395	28	83013											
SCN3A	6328	broad.mit.edu	37	chr2	166032868	166032868	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctagtaaaaaggcggaagcTttcaggtcctgggggtacca	13	8	2	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr2:166032868T>C	uc002ucx.2	-	3	529	c.37A>G	c.(37-39)AGC>GGC	p.S13G	SCN3A_uc002ucy.2_Missense_Mutation_p.S13G|SCN3A_uc002ucz.2_Missense_Mutation_p.S13G	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	13						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	AGGCGGAAGCTTTCAGGTCCT	0.423													C	166032868	T	C	166032868	3	2	154	1	0	0	0	0	1	0	0	0	13918	1609	56	3	6165	3	SCN3A	2	166032868	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	79319890	166032868	77166505	29	83014											
XIRP2	129446	broad.mit.edu	37	chr2	168100923	168100923	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagacagtccagcaagaAgaaatcgtaagaggtgatgt	12	5	0	5			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr2:168100923A>C	uc002udx.2	+	8	3039	c.3021A>C	c.(3019-3021)GAA>GAC	p.E1007D	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E832D|XIRP2_uc010fpq.2_Missense_Mutation_p.E785D|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	832					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TCCAGCAAGAAGAAATCGTAA	0.378													C	168100923	A	C	168100923	3	2	154	1	0	0	0	0	1	0	0	0	17427	69	3	5	3051	5	XIRP2	2	168100923	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	2068055	168100923	75098450	30	83015											
TTN	7273	broad.mit.edu	37	chr2	179449516	179449516	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctttccaaccctgcaggAagtttttgtgactgaagcta	9	10	0	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr2:179449516A>G	uc010zfg.1	-	259	57372	c.57148T>C	c.(57148-57150)TCC>CCC	p.S19050P	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S12745P|TTN_uc010zfi.1_Missense_Mutation_p.S12678P|TTN_uc010zfj.1_Missense_Mutation_p.S12553P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19977							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCCTGCAGGAAGTTTTTGTG	0.502													G	179449516	A	G	179449516	3	3	154	1	0	0	0	0	1	0	0	0	16732	246	9	3	43339	3	TTN	2	179449516	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	11348593	179449516	63749857	31	83016											
TTN	7273	broad.mit.edu	37	chr2	179477622	179477622	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagccctgggagcaagtgcTgagtggtgggaaccccttcc	15	11	0	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr2:179477622T>C	uc010zfg.1	-	214	42346	c.42122A>G	c.(42121-42123)CAG>CGG	p.Q14041R	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q7736R|TTN_uc010zfi.1_Missense_Mutation_p.Q7669R|TTN_uc010zfj.1_Missense_Mutation_p.Q7544R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14968							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGCAAGTGCTGAGTGGTGGG	0.507													C	179477622	T	C	179477622	3	2	154	1	0	0	0	0	1	0	0	0	16732	1580	55	3	58259	3	TTN	2	179477622	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	28106	179477622	63721751	32	83017											
TTN	7273	broad.mit.edu	37	chr2	179640750	179640750	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttcatgtacgtgaaactcAggccttggttcaggagctct	12	9	4	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr2:179640750A>G	uc010zfg.1	-	28	6065	c.5841T>C	c.(5839-5841)CCT>CCC	p.P1947P	TTN_uc010zfh.1_Silent_p.P1901P|TTN_uc010zfi.1_Silent_p.P1901P|TTN_uc010zfj.1_Silent_p.P1901P|TTN_uc002unb.2_Silent_p.P1947P|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1947							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTGAAACTCAGGCCTTGGTT	0.423													G	179640750	A	G	179640750	2	3	154	1	0	0	0	0	0	0	0	1	16732	175	7	3		3	TTN	2	179640750	Silent	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	163128	179640750	63558623	33	83018											
ZNF804A	91752	broad.mit.edu	37	chr2	185802566	185802566	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaaagaaacggaggcgaAaaagaggcagattccacccc	10	10	0	3			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr2:185802566A>C	uc002uph.2	+	4	3037	c.2443A>C	c.(2443-2445)AAA>CAA	p.K815Q		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	815						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						ACGGAGGCGAAAAAGAGGCAG	0.393													C	185802566	A	C	185802566	3	2	154	1	0	0	0	0	1	0	0	0	18167	15	1	5	2457	5	ZNF804A	2	185802566	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	6161816	185802566	57396807	34	83019											
SPAG16	79582	broad.mit.edu	37	chr2	215013944	215013944	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgttaccaattgtgtccatCgatataggtccaagtcctgg	9	10	0	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr2:215013944C>T	uc002veq.2	+	15	1766	c.1674C>T	c.(1672-1674)ATC>ATT	p.I558I	SPAG16_uc010fuz.1_Silent_p.I409I|SPAG16_uc002ver.2_Silent_p.I504I|SPAG16_uc010zjk.1_Silent_p.I464I	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	558					cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTGTGTCCATCGATATAGGTC	0.388													T	215013944	C	T	215013944	2	4	154	1	0	0	0	0	0	0	0	1	14978	874	31	1		1	SPAG16	2	215013944	Silent	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	29211378	215013944	28185429	35	83020											
ZNF385D	79750	broad.mit.edu	37	chr3	21552434	21552434	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtccttggcagttacagAtttctgcttatttttcatgg	9	8	2	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr3:21552434A>G	uc003cce.2	-	4	766	c.358T>C	c.(358-360)TCT>CCT	p.S120P	ZNF385D_uc010hfb.1_RNA	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	120						nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|skin(2)|ovary(1)	5						GCAGTTACAGATTTCTGCTTA	0.448													G	21552434	A	G	21552434	3	3	154	1	0	0	0	0	1	0	0	0	17875	333	12	3	849	3	ZNF385D	3	21552434	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08		21552434	176469996	36	83021											
ZNF197	10168	broad.mit.edu	37	chr3	44684845	44684845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgtgaggattgtgggaaGgctttcagttacaattcaag	12	4	2	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr3:44684845G>A	uc003cnm.2	+	6	2429	c.2223G>A	c.(2221-2223)AAG>AAA	p.K741K	ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	741	C2H2-type 14.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		ATTGTGGGAAGGCTTTCAGTT	0.423													A	44684845	G	A	44684845	2	1	154	1	0	0	0	0	0	0	0	1	17756	991	35	4		4	ZNF197	3	44684845	Silent	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	23132411	44684845	153337585	37	83022											
FYCO1	79443	broad.mit.edu	37	chr3	46016798	46016798	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctggtgcaccaaggagtAgcgaataaatgctcttcctt	9	11	2	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr3:46016798A>G	uc003cpb.3	-	5	534	c.328T>C	c.(328-330)TAC>CAC	p.Y110H	FYCO1_uc011bal.1_Missense_Mutation_p.Y110H	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	110	RUN.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		ACCAAGGAGTAGCGAATAAAT	0.488													G	46016798	A	G	46016798	3	3	154	1	0	0	0	0	1	0	0	0	6125	420	15	3	4164	3	FYCO1	3	46016798	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	1331953	46016798	152005632	38	83023											
TLR9	54106	broad.mit.edu	37	chr3	52255257	52255257	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcggccgtgggtccctggcaGaagttccggttatagaagtg	15	9	0	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr3:52255257G>A	uc003dda.1	-	2	3709	c.3075C>T	c.(3073-3075)TTC>TTT	p.F1025F	TLR9_uc003ddb.2_Silent_p.F1122F	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	1025	Cytoplasmic (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GTCCCTGGCAGAAGTTCCGGT	0.602													A	52255257	G	A	52255257	2	1	154	1	0	0	0	0	0	0	0	1	15955	933	33	4		4	TLR9	3	52255257	Silent	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	6238459	52255257	145767173	39	83024											
CNTN3	5067	broad.mit.edu	37	chr3	74349082	74349082	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgacttcagaaggaggcacTtctggaactatacaggtcag	11	8	3	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr3:74349082T>C	uc003dpm.1	-	16	2183	c.2103A>G	c.(2101-2103)GAA>GAG	p.E701E		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	701	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AAGGAGGCACTTCTGGAACTA	0.388													C	74349082	T	C	74349082	2	2	154	1	0	0	0	0	0	0	0	1	3642	1606	56	3		3	CNTN3	3	74349082	Silent	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	22093825	74349082	123673348	40	83025											
TRIM42	287015	broad.mit.edu	37	chr3	140401645	140401645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacggctacctcaagtggcGctttgaccgctcctccgggc	12	16	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr3:140401645G>A	uc003eto.1	+	2	874	c.683G>A	c.(682-684)CGC>CAC	p.R228H		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	228						intracellular	zinc ion binding			lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						CTCAAGTGGCGCTTTGACCGC	0.617													A	140401645	G	A	140401645	3	1	154	1	0	0	0	0	1	0	0	0	16514	1087	38	1	689	1	TRIM42	3	140401645	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	66052563	140401645	57620785	41	83026											
BCHE	590	broad.mit.edu	37	chr3	165548524	165548524	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatggaagcctggaaaacTttgatctatgttctgacagc	9	9	2	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr3:165548524T>G	uc003fem.3	-	2	458	c.298A>C	c.(298-300)AGT>CGT	p.S100R	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	100					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CCTGGAAAACTTTGATCTATG	0.403													G	165548524	T	G	165548524	3	3	154	1	0	0	0	0	1	0	0	0	1358	1609	56	5	1522	5	BCHE	3	165548524	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	25146879	165548524	32473906	42	83027											
RTP2	344892	broad.mit.edu	37	chr3	187416376	187416376	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggcaccagcgaagagacaaGaagttgtagccggatcccgc	13	11	0	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr3:187416376G>T	uc003fro.1	-	2	1017	c.588C>A	c.(586-588)TTC>TTA	p.F196L		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	receptor transporting protein 2	196	Cytoplasmic (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding				0	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GAAGAGACAAGAAGTTGTAGC	0.582													T	187416376	G	T	187416376	3	4	154	1	0	0	0	0	1	0	0	0	13734	933	33	5	93	5	RTP2	3	187416376	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	21867852	187416376	10606054	43	83028											
PPARGC1A	10891	broad.mit.edu	37	chr4	23816032	23816032	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtgaggactgaggacttgctGagttgtgcatacaactcgga	14	7	0	3			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr4:23816032G>C	uc003gqs.2	-	8	1194	c.1074C>G	c.(1072-1074)CTC>CTG	p.L358L	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	358					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				AGGACTTGCTGAGTTGTGCAT	0.512													C	23816032	G	C	23816032	2	2	154	1	0	0	0	0	0	0	0	1	12300	1277	45	5		5	PPARGC1A	4	23816032	Silent	SNP	G	TCGA-CD-A487-01A-21D-A24D-08		23816032	167338244	44	83029											
KCTD8	386617	broad.mit.edu	37	chr4	44449793	44449793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggctctcgttgagcgtgtCcccgaagacctccttggcca	12	15	1	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr4:44449793C>T	uc003gwu.2	-	1	1032	c.748G>A	c.(748-750)GAC>AAC	p.D250N		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	250						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						TTGAGCGTGTCCCCGAAGACC	0.647										HNSCC(17;0.042)			T	44449793	C	T	44449793	3	4	154	1	0	0	0	0	1	0	0	0	8115	855	30	4	681	4	KCTD8	4	44449793	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	20633761	44449793	146704483	45	83030											
GABRA4	2557	broad.mit.edu	37	chr4	46979472	46979472	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcataattctaaaaagcTtatttggagctgtcatatta	5	6	3	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr4:46979472T>G	uc003gxg.2	-	4	588	c.449A>C	c.(448-450)AAG>ACG	p.K150T		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	150	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTAAAAAGCTTATTTGGAGC	0.254													G	46979472	T	G	46979472	3	3	154	1	0	0	0	0	1	0	0	0	6163	1609	56	5	1239	5	GABRA4	4	46979472	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	2529679	46979472	144174804	46	83031											
CSN3	1448	broad.mit.edu	37	chr4	71115170	71115170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgcagttactccacctacGgcataaaaacaccaaggaaa	7	11	0	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr4:71115170G>A	uc003hfe.3	+	4	601	c.543G>A	c.(541-543)ACG>ACA	p.T181T		NM_005212	NP_005203	P07498	CASK_HUMAN	casein kappa precursor	181				TPPT -> PTTS (in Ref. 5; AA sequence and 6; AA sequence).		extracellular region	protein binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						CTCCACCTACGGCATAAAAAC	0.413													A	71115170	G	A	71115170	2	1	154	1	0	0	0	0	0	0	0	1	3949	1103	39	1		1	CSN3	4	71115170	Silent	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	24135698	71115170	120039106	47	83032											
PPBP	5473	broad.mit.edu	37	chr4	74853743	74853743	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agagcagtcagcagcaatgaCagaagcagcagcacctgcaa	11	11	1	3			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr4:74853743C>G	uc003hhj.2	-	1	158	c.78G>C	c.(76-78)CTG>CTC	p.L26L		NM_002704	NP_002695	P02775	CXCL7_HUMAN	pro-platelet basic protein precursor	26					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			GCAGCAATGACAGAAGCAGCA	0.527													G	74853743	C	G	74853743	2	3	154	1	0	0	0	0	0	0	0	1	12303	465	17	5		5	PPBP	4	74853743	Silent	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	3738573	74853743	116300533	48	83033											
THAP9	79725	broad.mit.edu	37	chr4	83840057	83840057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaggcatttgctaagtaacGatggatatccattcaaatga	8	7	2	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr4:83840057G>A	uc003hnt.2	+	5	2811	c.2692G>A	c.(2692-2694)GAT>AAT	p.D898N	THAP9_uc003hns.1_Missense_Mutation_p.D754N|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Missense_Mutation_p.D615N	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	898							DNA binding|metal ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5		Hepatocellular(203;0.114)				GCTAAGTAACGATGGATATCC	0.269													A	83840057	G	A	83840057	3	1	154	1	0	0	0	0	1	0	0	0	15848	1058	37	1	2710	1	THAP9	4	83840057	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	8986314	83840057	107314219	49	83034											
C4orf37	285555	broad.mit.edu	37	chr4	98761987	98761987	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaagaggcatgttttcTtttagccactaaactacgag	8	7	1	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr4:98761987T>G	uc003htt.1	-	9	1231	c.1141A>C	c.(1141-1143)AGA>CGA	p.R381R		NM_174952	NP_777612	Q8N412	CD037_HUMAN	hypothetical protein LOC285555	381											0				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		GCATGTTTTCTTTTAGCCACT	0.413													G	98761987	T	G	98761987	2	3	154	1	0	0	0	0	0	0	0	1	2267	1617	56	5		5	C4orf37	4	98761987	Silent	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	14921930	98761987	92392289	50	83035											
KIAA1109	84162	broad.mit.edu	37	chr4	123170768	123170768	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgttccagatgtaactcgaAtaggtcccagccaagaaaaa	8	10	0	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr4:123170768A>G	uc003ieh.2	+	34	5686	c.5641A>G	c.(5641-5643)ATA>GTA	p.I1881V	KIAA1109_uc003iek.2_Missense_Mutation_p.I500V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1881					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TGTAACTCGAATAGGTCCCAG	0.353													G	123170768	A	G	123170768	3	3	154	1	0	0	0	0	1	0	0	0	8208	101	4	3	5775	3	KIAA1109	4	123170768	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	24408781	123170768	67983508	51	83036											
ZFP42	132625	broad.mit.edu	37	chr4	188924770	188924770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgcacgtgcgcatccacaCgggggagaaacgtttcgtgt	13	11	0	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr4:188924770C>T	uc003izg.1	+	3	1054	c.809C>T	c.(808-810)ACG>ATG	p.T270M	ZFP42_uc003izh.1_Missense_Mutation_p.T270M|ZFP42_uc003izi.1_Missense_Mutation_p.T270M	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	270					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CGCATCCACACGGGGGAGAAA	0.498													T	188924770	C	T	188924770	3	4	154	1	0	0	0	0	1	0	0	0	17647	536	19	1	811	1	ZFP42	4	188924770	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	65754002	188924770	2229506	52	83037											
TRIML2	205860	broad.mit.edu	37	chr4	189022224	189022224	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcacctgtagcatttcctGgaacatctcctctagctcgg	7	14	3	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr4:189022224G>T	uc003izl.2	-	3	352	c.316C>A	c.(316-318)CAG>AAG	p.Q106K	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Missense_Mutation_p.Q156K|TRIML2_uc011clf.1_Missense_Mutation_p.Q156K	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	106	Potential.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGCATTTCCTGGAACATCTCC	0.403													T	189022224	G	T	189022224	3	4	154	1	0	0	0	0	1	0	0	0	16548	1357	47	5	867	5	TRIML2	4	189022224	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	97454	189022224	2132052	53	83038											
SPEF2	79925	broad.mit.edu	37	chr5	35753812	35753812	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacatcattaatgagagctgGttacaggacactcttggaat	10	7	2	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr5:35753812G>T	uc003jjo.2	+	24	3528	c.3417G>T	c.(3415-3417)TGG>TGT	p.W1139C	SPEF2_uc003jjp.1_Missense_Mutation_p.W625C	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1139					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATGAGAGCTGGTTACAGGACA	0.502													T	35753812	G	T	35753812	3	4	154	1	0	0	0	0	1	0	0	0	15034	1270	44	5	3532	5	SPEF2	5	35753812	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08		35753812	145161448	54	83039											
GPR98	84059	broad.mit.edu	37	chr5	89990008	89990008	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtcaacaattcagacTtctggacctacaggaaaaac	7	11	3	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr5:89990008T>C	uc003kju.2	+	33	7531	c.7435T>C	c.(7435-7437)TTC>CTC	p.F2479L	GPR98_uc003kjt.2_Missense_Mutation_p.F185L|GPR98_uc003kjv.2_Missense_Mutation_p.F79L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2479	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAATTCAGACTTCTGGACCTA	0.493													C	89990008	T	C	89990008	3	2	154	1	0	0	0	0	1	0	0	0	6721	1609	56	3	7565	3	GPR98	5	89990008	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	54236196	89990008	90925252	55	83040											
C5orf24	134553	broad.mit.edu	37	chr5	134190974	134190974	+	Frame_Shift_Del	DEL	A	A	-													ccaggcagacctttggggacAactaaagctgcgggatacaa							TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr5:134190973_134190973CA>C	uc003kzx.3	+	1	444	c.383_383CA>C	c.(382-384)acafs	p.T128fs	C5orf24_uc003kzy.4_Frame_Shift_Del_p.T128fs|C5orf24_uc003kzz.3_Frame_Shift_Del_p.T128fs|C5orf24_uc021yds.1_Frame_Shift_Del_p.T128fs	NM_152409	NP_689622	Q7Z6I8	CE024_HUMAN	Homo sapiens chromosome 5 open reading frame 24 (C5orf24), transcript variant 2, mRNA.	128										breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCTTTGGGGACAACTAAAGCT	0.542													-	134190974	A	-	134190974	7	5	154	1	0	1	0	1	0	0	0	0	2287	117	5	0	386	0	C5orf24	5	134190974	Frame_Shift_Del	DEL	A	TCGA-CD-A487-01A-21D-A24D-08	44200966	134190974	46724286	56	83041											
PCDHA11	56138	broad.mit.edu	37	chr5	140250309	140250309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcgcgcgcgatgcgggcGtgccgcctctgagcagcaac	16	14	1	2	rs140203389	by1000genomes	TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr5:140250309G>A	uc003lia.2	+	1	2479	c.1621G>A	c.(1621-1623)GTG>ATG	p.V541M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.V541M	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	541	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATGCGGGCGTGCCGCCTCT	0.687													A	140250309	G	A	140250309	3	1	154	1	0	0	0	0	1	0	0	0	11521	1145	40	1	1623	1	PCDHA11	5	140250309	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	6059335	140250309	40664951	57	83042											
PCDHB3	56132	broad.mit.edu	37	chr5	140481632	140481632	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccgcgagaacaacagccccGccctgcacatcggcagtgtc	10	17	0	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr5:140481632G>T	uc003lio.2	+	1	1399	c.1399G>T	c.(1399-1401)GCC>TCC	p.A467S	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	467	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACAGCCCCGCCCTGCACAT	0.622													T	140481632	G	T	140481632	3	4	154	1	0	0	0	0	1	0	0	0	11543	1087	38	5	1401	5	PCDHB3	5	140481632	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	231323	140481632	40433628	58	83043											
G3BP1	10146	broad.mit.edu	37	chr5	151183481	151183481	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgaggtccgtctgaatgtCgaagagaagaagactcgagc	15	7	1	5	rs144577510	byFrequency	TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr5:151183481C>T	uc003lun.2	+	12	1401	c.1230C>T	c.(1228-1230)GTC>GTT	p.V410V	G3BP1_uc003lum.2_Silent_p.V410V|G3BP1_uc011dcu.1_Silent_p.V228V|G3BP1_uc010jhz.2_Silent_p.V228V|G3BP1_uc003luq.2_Silent_p.V78V	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	410	RRM.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GTCTGAATGTCGAAGAGAAGA	0.527													T	151183481	C	T	151183481	2	4	154	1	0	0	0	0	0	0	0	1	6141	871	31	1		1	G3BP1	5	151183481	Silent	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	10701849	151183481	29731779	59	83044											
GRIA1	2890	broad.mit.edu	37	chr5	153190744	153190744	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcaatcgattccttgcatgAgccacagttcagggatgccc	10	12	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr5:153190744A>T	uc003lva.3	+	16	3045	c.2680A>T	c.(2680-2682)AGC>TGC	p.S894C	GRIA1_uc003luy.3_Missense_Mutation_p.S894C|GRIA1_uc003luz.3_Missense_Mutation_p.S799C|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.S814C|GRIA1_uc011dcx.1_Missense_Mutation_p.S825C|GRIA1_uc011dcy.1_Missense_Mutation_p.S904C|GRIA1_uc011dcz.1_Missense_Mutation_p.S904C	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	894	Cytoplasmic (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCCTTGCATGAGCCACAGTTC	0.627													T	153190744	A	T	153190744	3	4	154	1	0	0	0	0	1	0	0	0	6767	304	11	5	2861	5	GRIA1	5	153190744	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	2007263	153190744	27724516	60	83045											
HK3	3101	broad.mit.edu	37	chr5	176308331	176308331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcttgtagagcgttccatCcacccccacagacactgcca	7	17	0	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr5:176308331C>T	uc003mfa.2	-	18	2691	c.2599G>A	c.(2599-2601)GAT>AAT	p.D867N	HK3_uc003mez.2_Missense_Mutation_p.D423N	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	867	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGTTCCATCCACCCCCACA	0.687													T	176308331	C	T	176308331	3	4	154	1	0	0	0	0	1	0	0	0	7192	855	30	4	180	4	HK3	5	176308331	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	23117587	176308331	4606929	61	83046											
ZNF354A	6940	broad.mit.edu	37	chr5	178154048	178154048	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcatcacatcccggtacaAgtttctctgagaaggggcca	10	12	2	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr5:178154048A>C	uc003mjj.2	-	3	310	c.112T>G	c.(112-114)TTG>GTG	p.L38V		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	38	KRAB.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TCCCGGTACAAGTTTCTCTGA	0.473													C	178154048	A	C	178154048	3	2	154	1	0	0	0	0	1	0	0	0	17861	69	3	5	1717	5	ZNF354A	5	178154048	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	1845717	178154048	2761212	62	83047											
ZNF454	285676	broad.mit.edu	37	chr5	178392722	178392722	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attcatactggggaaaaaccTtatacatgtaacatatgtga	7	6	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr5:178392722T>G	uc003mjo.1	+	5	1588	c.1317T>G	c.(1315-1317)CCT>CCG	p.P439P	ZNF454_uc010jkz.1_Silent_p.P439P	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GGGAAAAACCTTATACATGTA	0.403													G	178392722	T	G	178392722	2	3	154	1	0	0	0	0	0	0	0	1	17920	1596	56	5		5	ZNF454	5	178392722	Silent	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	238674	178392722	2522538	63	83048											
HDGFL1	154150	broad.mit.edu	37	chr6	22569833	22569833	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctacggcatgcccatgtacaAgagcggggacctggtgtttg	14	10	0	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr6:22569833A>T	uc003nds.2	+	1	156	c.29A>T	c.(28-30)AAG>ATG	p.K10M		NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	10											0	Ovarian(93;0.163)					CCCATGTACAAGAGCGGGGAC	0.617													T	22569833	A	T	22569833	3	4	154	1	0	0	0	0	1	0	0	0	7019	72	3	5	31	5	HDGFL1	6	22569833	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08		22569833	148545234	64	83049											
OR5V1	81696	broad.mit.edu	37	chr6	29323304	29323304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactggatcctcaagatggtGgagattatgcaaatgtagga	13	5	1	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr6:29323304G>A	uc011dlo.1	-	1	751	c.669C>T	c.(667-669)TCC>TCT	p.S223S		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V,	223	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|kidney(1)	4						TCAAGATGGTGGAGATTATGC	0.473													A	29323304	G	A	29323304	2	1	154	1	0	0	0	0	0	0	0	1	11184	1335	47	4		4	OR5V1	6	29323304	Silent	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	6753471	29323304	141791763	65	83050											
POLH	5429	broad.mit.edu	37	chr6	43571749	43571749	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cattttggggagaagaatggGtaagtgattcatttttttta	11	2	1	3			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr6:43571749G>C	uc003ovq.3	+	7	1188	c.884_splice	c.e7+1	p.G295_splice	POLH_uc010jyu.2_Splice_Site_p.G171_splice|POLH_uc011dvl.1_Splice_Site|POLH_uc003ovr.3_Splice_Site_p.G196_splice	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	DNA-directed DNA polymerase eta						DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(2)	2	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AGAAGAATGGGTAAGTGATTC	0.378								DNA_polymerases_(catalytic_subunits)	Xeroderma_Pigmentosum				C	43571749	G	C	43571749	5	2	154	1	0	0	0	0	0	0	1	0	12202	1275	44	5	907	5	POLH	6	43571749	Splice_Site	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	14248445	43571749	127543318	66	83051											
TBX18	9096	broad.mit.edu	37	chr6	85448259	85448259	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaaggtcagagtccgtAgtgatggtcgccagaatgca	12	9	2	3			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr6:85448259A>G	uc003pkl.1	-	7	1055	c.1055T>C	c.(1054-1056)CTA>CCA	p.L352P	TBX18_uc010kbq.1_Missense_Mutation_p.L194P	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	352					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CAGAGTCCGTAGTGATGGTCG	0.463													G	85448259	A	G	85448259	3	3	154	1	0	0	0	0	1	0	0	0	15650	420	15	3	776	3	TBX18	6	85448259	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	41876510	85448259	85666808	67	83052											
SYNE1	23345	broad.mit.edu	37	chr6	152651961	152651961	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccagttctctgcagcgtaAgtagaagattttcatattct	8	9	3	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr6:152651961A>C	uc010kiw.2	-	78	14461	c.13859T>G	c.(13858-13860)CTT>CGT	p.L4620R	SYNE1_uc003qot.3_Missense_Mutation_p.L4549R|SYNE1_uc003qou.3_Missense_Mutation_p.L4620R|SYNE1_uc010kiz.2_Missense_Mutation_p.L375R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4620	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)		CTGCAGCGTAAGTAGAAGATT	0.388										HNSCC(10;0.0054)			C	152651961	A	C	152651961	3	2	154	1	0	0	0	0	1	0	0	0	15442	72	3	5	12883	5	SYNE1	6	152651961	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	67203702	152651961	18463106	68	83053											
VIP	7432	broad.mit.edu	37	chr6	153078245	153078245	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgcagcagtgagggagaatCtcccgactttccagaagagt	12	10	1	4			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr6:153078245C>G	uc003qpe.2	+	6	654	c.482C>G	c.(481-483)TCT>TGT	p.S161C	VIP_uc003qpf.2_Missense_Mutation_p.S160C|VIP_uc010kjd.2_Missense_Mutation_p.S159C	NM_003381	NP_003372	P01282	VIP_HUMAN	vasoactive intestinal peptide isoform 1	161					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity				0		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		GAGGGAGAATCTCCCGACTTT	0.408													G	153078245	C	G	153078245	3	3	154	1	0	0	0	0	1	0	0	0	17164	913	32	5	500	5	VIP	6	153078245	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	426284	153078245	18036822	69	83054											
RBM16	22828	broad.mit.edu	37	chr6	155139625	155139625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttattagatgattcctcccCggggctgtgcttatgtctgc	10	10	1	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr6:155139625C>T	uc003qqa.2	+	15	1766	c.1534C>T	c.(1534-1536)CGG>TGG	p.R512W	RBM16_uc011efj.1_Missense_Mutation_p.R578W|RBM16_uc011efk.1_Missense_Mutation_p.R557W|RBM16_uc003qpz.2_Missense_Mutation_p.R512W|RBM16_uc010kji.2_Missense_Mutation_p.R533W	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	512	RRM.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)		GATTCCTCCCCGGGGCTGTGC	0.353													T	155139625	C	T	155139625	3	4	154	1	0	0	0	0	1	0	0	0	13118	643	23	1	1588	1	RBM16	6	155139625	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	2061380	155139625	15975442	70	83055											
GRM3	2913	broad.mit.edu	37	chr7	86415890	86415890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcctacgacagcgtgatccGagaactgttgcagaagccca	11	12	0	3			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr7:86415890G>A	uc003uid.2	+	3	1881	c.782G>A	c.(781-783)CGA>CAA	p.R261Q	GRM3_uc010lef.2_Missense_Mutation_p.R259Q|GRM3_uc010leg.2_Missense_Mutation_p.R133Q|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	261	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGCGTGATCCGAGAACTGTTG	0.652													A	86415890	G	A	86415890	3	1	154	1	0	0	0	0	1	0	0	0	6798	1058	37	1	788	1	GRM3	7	86415890	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08		86415890	72722773	71	83056											
KIAA1324L	222223	broad.mit.edu	37	chr7	86541447	86541447	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgttcctttggaggtgaAgctggggccattcattaatg	12	6	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr7:86541447A>C	uc011kha.1	-	15	2295	c.2110T>G	c.(2110-2112)TTC>GTC	p.F704V	KIAA1324L_uc003uif.1_Missense_Mutation_p.F464V|KIAA1324L_uc011kgz.1_Missense_Mutation_p.F590V|KIAA1324L_uc003uie.2_Missense_Mutation_p.F537V	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	704	Extracellular (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)					TTGGAGGTGAAGCTGGGGCCA	0.413													C	86541447	A	C	86541447	3	2	154	1	0	0	0	0	1	0	0	0	8224	72	3	5	1011	5	KIAA1324L	7	86541447	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	125557	86541447	72597216	72	83057											
ZNF804B	219578	broad.mit.edu	37	chr7	88963199	88963199	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accatctccataaactctaaAattttgcaagacaaacacga	3	11	2	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr7:88963199A>C	uc011khi.1	+	4	1441	c.903A>C	c.(901-903)AAA>AAC	p.K301N		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	301						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TAAACTCTAAAATTTTGCAAG	0.343										HNSCC(36;0.09)			C	88963199	A	C	88963199	3	2	154	1	0	0	0	0	1	0	0	0	18168	11	1	5	917	5	ZNF804B	7	88963199	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	2421752	88963199	70175464	73	83058											
ZNF804B	219578	broad.mit.edu	37	chr7	88963252	88963252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacactagaagattcaattgGcattcatgcttcattctcta	6	9	4	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr7:88963252G>A	uc011khi.1	+	4	1494	c.956G>A	c.(955-957)GGC>GAC	p.G319D		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	319						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GATTCAATTGGCATTCATGCT	0.338										HNSCC(36;0.09)			A	88963252	G	A	88963252	3	1	154	1	0	0	0	0	1	0	0	0	18168	1203	42	2	970	2	ZNF804B	7	88963252	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	53	88963252	70175411	74	83059											
COL1A2	1278	broad.mit.edu	37	chr7	94058685	94058685	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggctctaatgatgttgaActtgttgctgagggcaacag	13	7	1	3			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr7:94058685A>C	uc003ung.1	+	51	4368	c.3897A>C	c.(3895-3897)GAA>GAC	p.E1299D	COL1A2_uc011kib.1_Missense_Mutation_p.E151D	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1299	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ATGATGTTGAACTTGTTGCTG	0.443										HNSCC(75;0.22)			C	94058685	A	C	94058685	3	2	154	1	0	0	0	0	1	0	0	0	3678	40	2	5	4099	5	COL1A2	7	94058685	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	5095433	94058685	65079978	75	83060											
DOCK4	9732	broad.mit.edu	37	chr7	111381267	111381267	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgacagctgggtaacttaaCgggctgtttcagggggaaaa	14	6	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr7:111381267C>T	uc003vfx.2	-	46	5165	c.4896G>A	c.(4894-4896)CCG>CCA	p.P1632P	DOCK4_uc011kml.1_Silent_p.P513P|DOCK4_uc011kmm.1_Silent_p.P539P|DOCK4_uc003vfw.2_Silent_p.P1082P|DOCK4_uc003vfy.2_Silent_p.P1677P|DOCK4_uc003vfv.2_5'Flank	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1632					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				GGTAACTTAACGGGCTGTTTC	0.418													T	111381267	C	T	111381267	2	4	154	1	0	0	0	0	0	0	0	1	4689	523	19	1		1	DOCK4	7	111381267	Silent	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	17322582	111381267	47757396	76	83061											
CLEC5A	23601	broad.mit.edu	37	chr7	141643744	141643744	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgttgggacttggggaacTgctcccaaaaatctgtgaga	13	9	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr7:141643744T>G	uc003vwv.1	-	4	357	c.160A>C	c.(160-162)AGT>CGT	p.S54R	CLEC5A_uc011krm.1_Intron|CLEC5A_uc003vww.1_Missense_Mutation_p.S54R|CLEC5A_uc010lnq.1_Intron|CLEC5A_uc010lnr.1_Intron	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	C-type lectin, superfamily member 5	54	Extracellular (Potential).				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity				0	Melanoma(164;0.0171)					CTTGGGGAACTGCTCCCAAAA	0.438													G	141643744	T	G	141643744	3	3	154	1	0	0	0	0	1	0	0	0	3519	1580	55	5	422	5	CLEC5A	7	141643744	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	30262477	141643744	17494919	77	83062											
CSMD1	64478	broad.mit.edu	37	chr8	3087592	3087592	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagggtctggttgccaaaAgaaccggttattcagctgca	13	8	2	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr8:3087592A>C	uc011kwk.1	-	27	4708	c.4318T>G	c.(4318-4320)TTT>GTT	p.F1440V	CSMD1_uc011kwj.1_Missense_Mutation_p.F832V|CSMD1_uc003wqe.2_Missense_Mutation_p.F596V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1440	Extracellular (Potential).|Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGTTGCCAAAAGAACCGGTTA	0.473													C	3087592	A	C	3087592	3	2	154	1	0	0	0	0	1	0	0	0	3944	72	3	5	6555	5	CSMD1	8	3087592	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08		3087592	143276430	78	83063											
LEPROTL1	23484	broad.mit.edu	37	chr8	29961840	29961841	+	Frame_Shift_Ins	INS	-	-	T													actggcccctctttgttctaINStttttttacatcctttcacc							TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr8:29961840_29961841insT	uc003xhw.3	+	3	224_225	c.117_118insT	c.(115-120)CTATTTfs	p.L39fs	LEPROTL1_uc003xhx.2_Frame_Shift_Ins_p.L39fs	NM_015344	NP_056159	O95214	LERL1_HUMAN	leptin receptor overlapping transcript-like 1	39_40	Helical; (Potential).					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		TCTTTGTTCTATTTTTTTACAT	0.322													T	29961841	-	T	29961840	7	5	154	1	0	1	1	0	0	0	0	0	8733	436	16	0	127	0	LEPROTL1	8	29961840	Frame_Shift_Ins	INS	-	TCGA-CD-A487-01A-21D-A24D-08	26874248	29961840	116402182	79	83064	416	2									
LEPROTL1	23484	broad.mit.edu	37	chr8	29961841	29961842	+	Frame_Shift_Ins	INS	-	-	T													ctggcccctctttgttctatINSttttttacatcctttcacct							TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr8:29961840_29961841A>AT	uc003xhx.2	+	2	224_225	c.117_118A>AT	c.(115-120)ctatttfs	p.L39fs	MIR548O2_uc022atm.1_Intron|LEPROTL1_uc003xhw.4_Frame_Shift_Ins_p.L39fs	NM_001128208	NP_001121680	O95214	LERL1_HUMAN	Homo sapiens leptin receptor overlapping transcript-like 1 (LEPROTL1), transcript variant 2, mRNA.	39						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)	5				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		TCTTTGTTCTATTTTTTTACAT	0.322													T	29961842	-	T	29961841	7	5	154	1	0	1	1	0	0	0	0	0	8733	1493	52	0	128	0	LEPROTL1	8	29961841	Frame_Shift_Ins	INS	-	TCGA-CD-A487-01A-21D-A24D-08	1	29961841	116402181	80	83065	416	2									
CYP7B1	9420	broad.mit.edu	37	chr8	65509467	65509467	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttaccatcttctataAaacgatcatatctaaactcc	1	12	6	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr8:65509467A>C	uc003xvj.2	-	6	1457	c.1253T>G	c.(1252-1254)TTT>TGT	p.F418C		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	418					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				ATCTTCTATAAAACGATCATA	0.358													C	65509467	A	C	65509467	3	2	154	1	0	0	0	0	1	0	0	0	4197	14	1	5	271	5	CYP7B1	8	65509467	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	35547626	65509467	80854555	81	83066											
PREX2	80243	broad.mit.edu	37	chr8	69046425	69046425	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggaaaatgagatggaaActtgggaagccagcaggagg	16	5	0	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr8:69046425A>C	uc003xxv.1	+	32	3925	c.3898A>C	c.(3898-3900)ACT>CCT	p.T1300P		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1300					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						TGAGATGGAAACTTGGGAAGC	0.488													C	69046425	A	C	69046425	3	2	154	1	0	0	0	0	1	0	0	0	12477	43	2	5	4253	5	PREX2	8	69046425	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	3536958	69046425	77317597	82	83067											
WWP1	11059	broad.mit.edu	37	chr8	87473501	87473501	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaatgcgactattgcagttcGtcactggaacctgccgttta	10	10	1	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr8:87473501G>C	uc003ydt.2	+	23	2828	c.2548G>C	c.(2548-2550)GTC>CTC	p.V850L		NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase	850	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			lung(1)|liver(1)	2						ATTGCAGTTCGTCACTGGAAC	0.343													C	87473501	G	C	87473501	3	2	154	1	0	0	0	0	1	0	0	0	17412	1145	40	5	2630	5	WWP1	8	87473501	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	18427076	87473501	58890521	83	83068											
PKHD1L1	93035	broad.mit.edu	37	chr8	110451303	110451303	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctatgtagaagtcagaaactGgggttttgcatcaacaaggt	11	6	2	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr8:110451303G>C	uc003yne.2	+	32	4042	c.3938G>C	c.(3937-3939)TGG>TCG	p.W1313S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1313	Extracellular (Potential).|IPT/TIG 6.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTCAGAAACTGGGGTTTTGCA	0.398										HNSCC(38;0.096)			C	110451303	G	C	110451303	3	2	154	1	0	0	0	0	1	0	0	0	11972	1357	47	5	4064	5	PKHD1L1	8	110451303	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	22977802	110451303	35912719	84	83069											
TRPS1	7227	broad.mit.edu	37	chr8	116632071	116632071	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcttttcaagtccttcTtactgctagaagatggatct	8	10	3	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr8:116632071T>G	uc003ynz.2	-	2	674	c.215A>C	c.(214-216)AAG>ACG	p.K72T	TRPS1_uc011lhy.1_Missense_Mutation_p.K76T|TRPS1_uc003yny.2_Missense_Mutation_p.K85T|TRPS1_uc010mcy.2_Missense_Mutation_p.K72T	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	72					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CAAGTCCTTCTTACTGCTAGA	0.448									Langer-Giedion_syndrome				G	116632071	T	G	116632071	3	3	154	1	0	0	0	0	1	0	0	0	16590	1609	56	5	3650	5	TRPS1	8	116632071	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	6180768	116632071	29731951	85	83070											
COL14A1	7373	broad.mit.edu	37	chr8	121222071	121222071	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgagtcaaatgggatgcagtGcctggggcctcaggttacct	14	10	2	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr8:121222071G>T	uc003yox.2	+	12	1663	c.1398G>T	c.(1396-1398)GTG>GTT	p.V466V	COL14A1_uc003yoy.2_Silent_p.V144V|COL14A1_uc010mde.1_Silent_p.V144V	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	466	Fibronectin type-III 3.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGGATGCAGTGCCTGGGGCCT	0.473													T	121222071	G	T	121222071	2	4	154	1	0	0	0	0	0	0	0	1	3671	1306	46	5		5	COL14A1	8	121222071	Silent	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	4590000	121222071	25141951	86	83071											
PLEC	5339	broad.mit.edu	37	chr8	145002133	145002133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcggccccctgcgtgccGcggatcaccaggctgatggt	13	16	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr8:145002133G>A	uc003zaf.1	-	26	3869	c.3699C>T	c.(3697-3699)CGC>CGT	p.R1233R	PLEC_uc003zab.1_Silent_p.R1096R|PLEC_uc003zac.1_Silent_p.R1100R|PLEC_uc003zad.2_Silent_p.R1096R|PLEC_uc003zae.1_Silent_p.R1064R|PLEC_uc003zag.1_Silent_p.R1074R|PLEC_uc003zah.2_Silent_p.R1082R|PLEC_uc003zaj.2_Silent_p.R1123R	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1233	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCTGCGTGCCGCGGATCACCA	0.687													A	145002133	G	A	145002133	2	1	154	1	0	0	0	0	0	0	0	1	12052	1074	38	1		1	PLEC	8	145002133	Silent	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	23780062	145002133	1361889	87	83072											
VPS13A	23230	broad.mit.edu	37	chr9	79842333	79842333	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaaatgttgacacctgaaGaaaaagctttactctatgaa	7	6	1	5			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr9:79842333G>A	uc004akr.2	+	16	1644	c.1384G>A	c.(1384-1386)GAA>AAA	p.E462K	VPS13A_uc004akp.3_Missense_Mutation_p.E462K|VPS13A_uc004akq.3_Missense_Mutation_p.E462K|VPS13A_uc004aks.2_Missense_Mutation_p.E462K	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	462					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						GACACCTGAAGAAAAAGCTTT	0.303													A	79842333	G	A	79842333	3	1	154	1	0	0	0	0	1	0	0	0	17186	943	33	4	1446	4	VPS13A	9	79842333	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08		79842333	61371098	88	83073											
PSAT1	29968	broad.mit.edu	37	chr9	80919766	80919766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtgtgctgactatgtgGtgacaggagcttggtcagct	16	6	1	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr9:80919766G>A	uc004ala.2	+	4	375	c.307G>A	c.(307-309)GTG>ATG	p.V103M	PSAT1_uc004alb.2_Missense_Mutation_p.V103M	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1 isoform 1	103					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	TGACTATGTGGTGACAGGAGC	0.473													A	80919766	G	A	80919766	3	1	154	1	0	0	0	0	1	0	0	0	12644	1261	44	4	321	4	PSAT1	9	80919766	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	1077433	80919766	60293665	89	83074											
PDSS1	23590	broad.mit.edu	37	chr10	26993640	26993640	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcttgtgaagcatttaacatCtgcctgtccaaatgtatgtc	7	9	2	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr10:26993640C>A	uc001isv.2	+	3	243	c.197C>A	c.(196-198)TCT>TAT	p.S66Y	PDSS1_uc001isw.2_Missense_Mutation_p.S66Y	NM_014317	NP_055132	Q5T2R2	DPS1_HUMAN	prenyl diphosphate synthase, subunit 1	66				S -> P (in Ref. 1; AAD28559).	isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity				0						CATTTAACATCTGCCTGTCCA	0.259													A	26993640	C	A	26993640	3	1	154	1	0	0	0	0	1	0	0	0	11693	913	32	5	207	5	PDSS1	10	26993640	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08		26993640	108541107	90	83075											
OR13A1	79290	broad.mit.edu	37	chr10	45799582	45799582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagactggccagcgccttggGcatgatggaagaggtgcaga	16	9	0	4			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr10:45799582G>A	uc001jcc.1	-	4	598	c.289C>T	c.(289-291)CCC>TCC	p.P97S	OR13A1_uc001jcd.1_Missense_Mutation_p.P93S	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A,	97	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGCGCCTTGGGCATGATGGAA	0.552													A	45799582	G	A	45799582	3	1	154	1	0	0	0	0	1	0	0	0	10933	1203	42	2	701	2	OR13A1	10	45799582	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	18805942	45799582	89735165	91	83076											
RBP3	5949	broad.mit.edu	37	chr10	48390461	48390461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctcagcacctcctggccCgggacgctgtccacccgcag	11	18	1	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr10:48390461C>T	uc001jez.2	-	1	531	c.417G>A	c.(415-417)CCG>CCA	p.P139P		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	139	4 X approximate tandem repeats.|1.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	CCTCCTGGCCCGGGACGCTGT	0.637													T	48390461	C	T	48390461	2	4	154	1	0	0	0	0	0	0	0	1	13157	639	23	1		1	RBP3	10	48390461	Silent	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	2590879	48390461	87144286	92	83077											
SLC18A3	6572	broad.mit.edu	37	chr10	50819325	50819325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactacgccacgctgttcgCggcgcgcagcctgcagggcc	15	16	0	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr10:50819325C>T	uc001jhw.2	+	1	979	c.539C>T	c.(538-540)GCG>GTG	p.A180V	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	180	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						ACGCTGTTCGCGGCGCGCAGC	0.662													T	50819325	C	T	50819325	3	4	154	1	0	0	0	0	1	0	0	0	14427	768	27	1	541	1	SLC18A3	10	50819325	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	2428864	50819325	84715422	93	83078											
PCDH15	65217	broad.mit.edu	37	chr10	55569106	55569106	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggcgtctctgccactcTtcaccctcaaggtcaacgat	7	15	6	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr10:55569106T>A	uc010qhs.1	-	37	5114	c.4719A>T	c.(4717-4719)GAA>GAT	p.E1573D	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.E1566D|PCDH15_uc010qhu.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD2-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTGCCACTCTTCACCCTCAA	0.413										HNSCC(58;0.16)			A	55569106	T	A	55569106	3	1	154	1	0	0	0	0	1	0	0	0	11511	1606	56	5	1212	5	PCDH15	10	55569106	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	4749781	55569106	79965641	94	83079											
CDH23	64072	broad.mit.edu	37	chr10	73574963	73574963	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaacgcccgcacagaatcCgccaaatccacacccctgca	6	20	0	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr10:73574963C>T	uc001jrx.3	+	68	10370	c.9993C>T	c.(9991-9993)TCC>TCT	p.S3331S	CDH23_uc001jsg.3_Silent_p.S1091S|CDH23_uc001jsh.3_Silent_p.S1056S|CDH23_uc001jsi.3_Silent_p.S1056S|CDH23_uc001jsj.3_Silent_p.S228S|CDH23_uc010qjr.1_Silent_p.S193S	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	3331	Cytoplasmic (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GCACAGAATCCGCCAAATCCA	0.632													T	73574963	C	T	73574963	2	4	154	1	0	0	0	0	0	0	0	1	3108	639	23	1		1	CDH23	10	73574963	Silent	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	18005857	73574963	61959784	95	83080											
SEMA4G	57715	broad.mit.edu	37	chr10	102737435	102737435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcagcggctcaattctaCccacctctatgcatgtggga	9	14	3	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr10:102737435C>T	uc010qpt.1	+	5	826	c.383C>T	c.(382-384)ACC>ATC	p.T128I	SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krw.1_Missense_Mutation_p.T128I|SEMA4G_uc001krx.2_Missense_Mutation_p.T128I	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	semaphorin 4G	128	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CTCAATTCTACCCACCTCTAT	0.478													T	102737435	C	T	102737435	3	4	154	1	0	0	0	0	1	0	0	0	14036	507	18	4	397	4	SEMA4G	10	102737435	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	29162472	102737435	32797312	96	83081											
PPRC1	23082	broad.mit.edu	37	chr10	103898676	103898676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcggacacccccagaacGtgacctcatcaccccagttg	7	18	3	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr10:103898676G>A	uc001kum.2	+	4	569	c.530G>A	c.(529-531)CGT>CAT	p.R177H	PPRC1_uc001kun.2_Missense_Mutation_p.R57H|PPRC1_uc010qqj.1_Missense_Mutation_p.R177H|PPRC1_uc009xxa.2_5'Flank	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCCCCAGAACGTGACCTCATC	0.542													A	103898676	G	A	103898676	3	1	154	1	0	0	0	0	1	0	0	0	12410	1145	40	1	544	1	PPRC1	10	103898676	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	1161241	103898676	31636071	97	83082											
CCDC147	159686	broad.mit.edu	37	chr10	106125738	106125738	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcaaggaggagcttcagaAgctggagcagcagctgaagg	17	7	1	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr10:106125738A>G	uc001kyh.2	+	5	898	c.764A>G	c.(763-765)AAG>AGG	p.K255R		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	255	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAGCTTCAGAAGCTGGAGCAG	0.498													G	106125738	A	G	106125738	3	3	154	1	0	0	0	0	1	0	0	0	2781	72	3	3	782	3	CCDC147	10	106125738	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	2227062	106125738	29409009	98	83083											
CCDC147	159686	broad.mit.edu	37	chr10	106209856	106209856	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttcagaattgaatatgtatGaagtacagagcaaagaatat	8	4	1	5			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr10:106209856G>A	uc001kyh.2	+	17	2538	c.2404G>A	c.(2404-2406)GAA>AAA	p.E802K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	802	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAATATGTATGAAGTACAGAG	0.323													A	106209856	G	A	106209856	3	1	154	1	0	0	0	0	1	0	0	0	2781	1291	45	4	2470	4	CCDC147	10	106209856	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	84118	106209856	29324891	99	83084											
PDZD8	118987	broad.mit.edu	37	chr10	119078468	119078468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catttgcctctctgtcatagGatccaaaaatgagtaacctg	7	10	2	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr10:119078468G>A	uc001lde.1	-	3	1212	c.1013C>T	c.(1012-1014)TCC>TTC	p.S338F		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	338					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		TCTGTCATAGGATCCAAAAAT	0.323													A	119078468	G	A	119078468	3	1	154	1	0	0	0	0	1	0	0	0	11705	1174	41	4	2463	4	PDZD8	10	119078468	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	12868612	119078468	16456279	100	83085											
PHRF1	57661	broad.mit.edu	37	chr11	608145	608145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcccgaaccccctctcGgaccgtcctccgccatgtcc	8	21	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:608145G>A	uc001lqe.2	+	14	2820	c.2689G>A	c.(2689-2691)GGA>AGA	p.G897R	PHRF1_uc010qwc.1_Missense_Mutation_p.G896R|PHRF1_uc010qwd.1_Missense_Mutation_p.G895R|PHRF1_uc010qwe.1_Missense_Mutation_p.G893R|PHRF1_uc009ybz.1_Missense_Mutation_p.G687R|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	897							RNA polymerase binding|zinc ion binding				0						ACCCCCTCTCGGACCGTCCTC	0.672													A	608145	G	A	608145	3	1	154	1	0	0	0	0	1	0	0	0	11861	1117	39	1	2736	1	PHRF1	11	608145	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08		608145	134398371	101	83086											
OR51L1	119682	broad.mit.edu	37	chr11	5020717	5020717	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttgctactgagacactatCactactgccatggcaatgcc	7	13	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:5020717C>T	uc010qyu.1	+	1	505	c.505C>T	c.(505-507)CAC>TAC	p.H169Y		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L,	169	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGACACTATCACTACTGCCA	0.473													T	5020717	C	T	5020717	3	4	154	1	0	0	0	0	1	0	0	0	11102	826	29	4	507	4	OR51L1	11	5020717	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	4412572	5020717	129985799	102	83087											
OR2D2	120776	broad.mit.edu	37	chr11	6913570	6913570	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatacatgggtgtgtgaagTtgggagtcaacatgaacaag	13	4	1	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:6913570T>G	uc010rau.1	-	1	162	c.162A>C	c.(160-162)CAA>CAC	p.Q54H		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D,	54	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGTGTGAAGTTGGGAGTCAA	0.458													G	6913570	T	G	6913570	3	3	154	1	0	0	0	0	1	0	0	0	10994	1722	60	5	767	5	OR2D2	11	6913570	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	1892853	6913570	128092946	103	83088											
C11orf16	56673	broad.mit.edu	37	chr11	8951047	8951047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccctgccatgctgggtcGgcaacgtggagacatgggca	16	12	0	1	rs142369137		TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:8951047G>A	uc001mhb.3	-	3	325	c.201C>T	c.(199-201)GCC>GCT	p.A67A	C11orf16_uc001mhc.3_Silent_p.A67A	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	hypothetical protein LOC56673	67										upper_aerodigestive_tract(1)|pancreas(1)	2				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		ATGCTGGGTCGGCAACGTGGA	0.522													A	8951047	G	A	8951047	2	1	154	1	0	0	0	0	0	0	0	1	1631	1103	39	1		1	C11orf16	11	8951047	Silent	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	2037477	8951047	126055469	104	83089											
WEE1	7465	broad.mit.edu	37	chr11	9608313	9608313	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaatggcactggtaaagcAttcagtattgctgtccgctt	10	9	1	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:9608313A>G	uc001mhs.2	+	10	1950	c.1697A>G	c.(1696-1698)CAT>CGT	p.H566R	WEE1_uc001mht.2_Missense_Mutation_p.H352R	NM_003390	NP_003381	P30291	WEE1_HUMAN	WEE1 tyrosine kinase isoform 1	566	Protein kinase.				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	5				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		CTGGTAAAGCATTCAGTATTG	0.348													G	9608313	A	G	9608313	3	3	154	1	0	0	0	0	1	0	0	0	17341	217	8	3	1735	3	WEE1	11	9608313	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	657266	9608313	125398203	105	83090											
AMBRA1	55626	broad.mit.edu	37	chr11	46564896	46564896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgcaggagggcacgctgaCggtagtgggataattctgtt	15	6	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:46564896C>T	uc010rgu.1	-	7	1031	c.671G>A	c.(670-672)CGT>CAT	p.R224H	AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Missense_Mutation_p.R224H|AMBRA1_uc001ncu.1_Missense_Mutation_p.R224H|AMBRA1_uc001ncv.2_Missense_Mutation_p.R224H|AMBRA1_uc001ncw.2_Missense_Mutation_p.R224H|AMBRA1_uc001ncx.2_Missense_Mutation_p.R224H	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	224					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GGCACGCTGACGGTAGTGGGA	0.582													T	46564896	C	T	46564896	3	4	154	1	0	0	0	0	1	0	0	0	565	536	19	1	3007	1	AMBRA1	11	46564896	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	36956583	46564896	88441620	106	83091											
ZNF408	79797	broad.mit.edu	37	chr11	46724788	46724788	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggaggatgcagcagaaccttGcataggtatgtgtcaaataa	12	6	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:46724788G>C	uc001nde.1	+	4	877	c.647G>C	c.(646-648)TGC>TCC	p.C216S	ARHGAP1_uc001ndd.2_5'Flank|ARHGAP1_uc009yle.1_5'Flank|ARHGAP1_uc009ylf.1_5'Flank|ZNF408_uc010rgw.1_Missense_Mutation_p.C208S	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding				0						GCAGAACCTTGCATAGGTATG	0.383													C	46724788	G	C	46724788	3	2	154	1	0	0	0	0	1	0	0	0	17885	1319	46	5	693	5	ZNF408	11	46724788	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	159892	46724788	88281728	107	83092											
FOLH1	2346	broad.mit.edu	37	chr11	49221943	49221943	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggattgaatttgctttgcaAgctgaaagttttgttctgtt	11	4	1	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:49221943A>G	uc001ngy.2	-	3	536	c.275T>C	c.(274-276)CTT>CCT	p.L92P	FOLH1_uc001ngz.2_Missense_Mutation_p.L92P|FOLH1_uc009yly.2_Missense_Mutation_p.L77P|FOLH1_uc009ylz.2_Missense_Mutation_p.L77P|FOLH1_uc009yma.2_Intron|FOLH1_uc001nha.2_Missense_Mutation_p.L77P	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	92	Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TTGCTTTGCAAGCTGAAAGTT	0.363													G	49221943	A	G	49221943	3	3	154	1	0	0	0	0	1	0	0	0	5979	72	3	3	2045	3	FOLH1	11	49221943	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	2497155	49221943	85784573	108	83093											
OR4P4	81300	broad.mit.edu	37	chr11	55406147	55406147	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actctttaccacccatttttTtggaggcatagagatcttca	6	10	3	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:55406147T>G	uc010rij.1	+	1	314	c.314T>G	c.(313-315)TTT>TGT	p.F105C		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P,	105	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						ACCCATTTTTTTGGAGGCATA	0.428													G	55406147	T	G	55406147	3	3	154	1	0	0	0	0	1	0	0	0	11080	1841	64	5	316	5	OR4P4	11	55406147	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	6184204	55406147	79600369	109	83094											
OR5L1	219437	broad.mit.edu	37	chr11	55579654	55579654	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagggcaggcacaaagccTtctccacctgtgcttcccac	9	16	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:55579654T>G	uc001nhw.1	+	1	712	c.712T>G	c.(712-714)TTC>GTC	p.F238V		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	238	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)				GCACAAAGCCTTCTCCACCTG	0.498													G	55579654	T	G	55579654	3	3	154	1	0	0	0	0	1	0	0	0	11170	1609	56	5	714	5	OR5L1	11	55579654	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	173507	55579654	79426862	110	83095											
DRAP1	10589	broad.mit.edu	37	chr11	65688402	65688402	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggggaagaggagacatcacaAcccccaccccaggccagcca	11	16	1	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:65688402A>T	uc001ogj.1	+	6	716	c.471A>T	c.(469-471)CAA>CAT	p.Q157H	C11orf68_uc009yqv.2_5'Flank|C11orf68_uc001ogi.2_5'Flank	NM_006442	NP_006433	Q14919	NC2A_HUMAN	DR1-associated protein 1	157					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0				READ - Rectum adenocarcinoma(159;0.166)		AGACATCACAACCCCCACCCC	0.577													T	65688402	A	T	65688402	3	4	154	1	0	0	0	0	1	0	0	0	4755	40	2	5	493	5	DRAP1	11	65688402	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	10108748	65688402	69318114	111	83096											
ODZ4	26011	broad.mit.edu	37	chr11	78383337	78383337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctctgtgcgtgttacgCgatcaaagtccagagatagg	11	9	3	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:78383337C>T	uc001ozl.3	-	31	5997	c.5534G>A	c.(5533-5535)CGC>CAC	p.R1845H	ODZ4_uc001ozk.3_Missense_Mutation_p.R70H|ODZ4_uc009yvb.1_Missense_Mutation_p.R429H	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1845	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GCGTGTTACGCGATCAAAGTC	0.517													T	78383337	C	T	78383337	3	4	154	1	0	0	0	0	1	0	0	0	10837	768	27	1	2791	1	ODZ4	11	78383337	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	12694935	78383337	56623179	112	83097											
DYNC2H1	79659	broad.mit.edu	37	chr11	103027345	103027345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaaggatttgaagataaaGtatcaatttgggaaagaaaa	9	1	1	3			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:103027345G>A	uc001pho.2	+	26	4117	c.3973G>A	c.(3973-3975)GTA>ATA	p.V1325I	DYNC2H1_uc001phn.1_Missense_Mutation_p.V1325I|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1325	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGAAGATAAAGTATCAATTTG	0.343													A	103027345	G	A	103027345	3	1	154	1	0	0	0	0	1	0	0	0	4846	1029	36	4	4075	4	DYNC2H1	11	103027345	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	24644008	103027345	31979171	113	83098											
FAM55D	54827	broad.mit.edu	37	chr11	114453678	114453678	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatatcagtggtgttttaggGaataaggactttgtggagtt	14	2	1	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:114453678G>A	uc001ppc.2	-	3	343	c.162C>T	c.(160-162)TTC>TTT	p.F54F	FAM55D_uc001ppd.2_5'UTR	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	54						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		GTGTTTTAGGGAATAAGGACT	0.403													A	114453678	G	A	114453678	2	1	154	1	0	0	0	0	0	0	0	1	5587	1165	41	4		4	FAM55D	11	114453678	Silent	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	11426333	114453678	20552838	114	83099											
TRAPPC4	51399	broad.mit.edu	37	chr11	118889853	118889853	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgttagcttcacctctgcagTgggtcatgcagtgctggcca	12	12	3	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:118889853T>A	uc010ryo.1	+	2	441	c.176T>A	c.(175-177)GTG>GAG	p.V59E	RPS25_uc001pun.2_5'Flank|TRAPPC4_uc010ryn.1_Missense_Mutation_p.V59E|TRAPPC4_uc010ryp.1_Missense_Mutation_p.V59E|TRAPPC4_uc001pup.2_RNA|TRAPPC4_uc010ryq.1_Missense_Mutation_p.V59E	NM_016146	NP_057230	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	59					dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		ACCTCTGCAGTGGGTCATGCA	0.602													A	118889853	T	A	118889853	3	1	154	1	0	0	0	0	1	0	0	0	16458	1710	59	5	182	5	TRAPPC4	11	118889853	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	4436175	118889853	16116663	115	83100											
OR8G2	26492	broad.mit.edu	37	chr11	124096172	124096172	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacttgcagctcccacatcTtggctgttgctgttttcttt	8	12	2	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:124096172T>C	uc010saf.1	+	1	775	c.775T>C	c.(775-777)TTG>CTG	p.L259L		NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN	olfactory receptor, family 8, subfamily G,	259						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CTCCCACATCTTGGCTGTTGC	0.502													C	124096172	T	C	124096172	2	2	154	1	0	0	0	0	0	0	0	1	11235	1606	56	3		3	OR8G2	11	124096172	Silent	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	5206319	124096172	10910344	116	83101											
SLC37A2	219855	broad.mit.edu	37	chr11	124949031	124949031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtttttggggagcggcttcCgctccgttactacctctcag	12	12	1	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:124949031C>T	uc001qbn.2	+	5	589	c.338C>T	c.(337-339)CCG>CTG	p.P113L	SLC37A2_uc010sau.1_Missense_Mutation_p.P113L	NM_001145290	NP_001138762	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glycerol-3-phosphate	113					carbohydrate transport|transmembrane transport	integral to membrane				ovary(2)	2	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		GAGCGGCTTCCGCTCCGTTAC	0.468													T	124949031	C	T	124949031	3	4	154	1	0	0	0	0	1	0	0	0	14598	652	23	1	356	1	SLC37A2	11	124949031	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	852859	124949031	10057485	117	83102											
TAS2R7	50837	broad.mit.edu	37	chr12	10954798	10954798	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gaaatcaccctgtcaattctCcacttcatccagaggaaaag	6	12	4	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr12:10954798C>G	uc001qyv.2	-	1	429	c.372G>C	c.(370-372)TGG>TGC	p.W124C		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	124	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			skin(1)	1						TGTCAATTCTCCACTTCATCC	0.418													G	10954798	C	G	10954798	3	3	154	1	0	0	0	0	1	0	0	0	15583	856	30	5	588	5	TAS2R7	12	10954798	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08		10954798	122897097	118	83103											
TAS2R14	50840	broad.mit.edu	37	chr12	11091473	11091473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatagagttagaaaaattggCtatcttgagaaaataaaaag	8	2	1	3			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr12:11091473C>T	uc010shi.1	-	1	334	c.334G>A	c.(334-336)GCC>ACC	p.A112T	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	112	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity				0						GAAAAATTGGCTATCTTGAGA	0.348													T	11091473	C	T	11091473	3	4	154	1	0	0	0	0	1	0	0	0	15565	797	28	2	622	2	TAS2R14	12	11091473	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	136675	11091473	122760422	119	83104											
SOX5	6660	broad.mit.edu	37	chr12	23908589	23908589	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taccttttatttcgccaaagTtccccgatcccattgcaaga	5	13	0	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr12:23908589T>G	uc001rfw.2	-	4	653	c.551A>C	c.(550-552)AAC>ACC	p.N184T	SOX5_uc001rfx.2_Missense_Mutation_p.N171T|SOX5_uc001rfy.2_Missense_Mutation_p.N171T|SOX5_uc010siv.1_Missense_Mutation_p.N171T|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.N136T	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	184					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						TTCGCCAAAGTTCCCCGATCC	0.338													G	23908589	T	G	23908589	3	3	154	1	0	0	0	0	1	0	0	0	14954	1725	60	5	1798	5	SOX5	12	23908589	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	12817116	23908589	109943306	120	83105											
TSPAN11	441631	broad.mit.edu	37	chr12	31132552	31132552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactctggctgagaactacGggcagcccggagccacgcag	15	13	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr12:31132552G>A	uc010sju.1	+	5	783	c.403G>A	c.(403-405)GGG>AGG	p.G135R	TSPAN11_uc001rjp.2_Missense_Mutation_p.G135R|TSPAN11_uc010sjv.1_Missense_Mutation_p.G125R	NM_001080509	NP_001073978	A1L157	TSN11_HUMAN	tetraspanin 11	135						integral to membrane					0	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGAGAACTACGGGCAGCCCGG	0.527													A	31132552	G	A	31132552	3	1	154	1	0	0	0	0	1	0	0	0	16632	1116	39	1	417	1	TSPAN11	12	31132552	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	7223963	31132552	102719343	121	83106											
LRRK2	120892	broad.mit.edu	37	chr12	40668689	40668689	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtttaagtcttataggatActtgattacaaagaagaatg	10	3	1	3			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr12:40668689A>G	uc001rmg.3	+	16	1956	c.1835A>G	c.(1834-1836)TAC>TGC	p.Y612C	LRRK2_uc001rmh.1_Missense_Mutation_p.Y234C	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	612					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTTATAGGATACTTGATTACA	0.313													G	40668689	A	G	40668689	3	3	154	1	0	0	0	0	1	0	0	0	9033	391	14	3	1897	3	LRRK2	12	40668689	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	9536137	40668689	93183206	122	83107											
EIF4B	1975	broad.mit.edu	37	chr12	53433975	53433975	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctctctctgttgatggtgaaGatgaaaatgagggagaagat	13	4	2	7			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr12:53433975G>C	uc001sbh.3	+	15	2010	c.1804G>C	c.(1804-1806)GAT>CAT	p.D602H	EIF4B_uc010snu.1_Missense_Mutation_p.D607H|EIF4B_uc010snv.1_Missense_Mutation_p.D563H|EIF4B_uc001sbi.2_Missense_Mutation_p.D355H|uc001sbj.1_RNA	NM_001417	NP_001408	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	602					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(1)|kidney(1)	2						TGATGGTGAAGATGAAAATGA	0.433													C	53433975	G	C	53433975	3	2	154	1	0	0	0	0	1	0	0	0	5027	942	33	5	1862	5	EIF4B	12	53433975	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	12765286	53433975	80417920	123	83108											
NEUROD4	58158	broad.mit.edu	37	chr12	55420235	55420235	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtctggaaatgtcaaaaacTtttgtaaaatccaaggagat	8	5	2	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr12:55420235T>G	uc001sgp.3	+	2	390	c.12T>G	c.(10-12)ACT>ACG	p.T4T		NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	neurogenic differentiation 4	4					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4						TGTCAAAAACTTTTGTAAAAT	0.378													G	55420235	T	G	55420235	2	3	154	1	0	0	0	0	0	0	0	1	10350	1596	56	5		5	NEUROD4	12	55420235	Silent	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	1986260	55420235	78431660	124	83109											
CEP290	80184	broad.mit.edu	37	chr12	88473003	88473003	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttctaaaagtgcccgactaaGtgcctaaaaattaaccaaaa	5	9	1	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr12:88473003G>C	uc001tar.2	-	39	5574	c.5230C>G	c.(5230-5232)CTT>GTT	p.L1744V	CEP290_uc001taq.2_Missense_Mutation_p.L804V	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1744	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						GCCCGACTAAGTGCCTAAAAA	0.318													C	88473003	G	C	88473003	3	2	154	1	0	0	0	0	1	0	0	0	3253	1029	36	5	2273	5	CEP290	12	88473003	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	33052768	88473003	45378892	125	83110											
STAB2	55576	broad.mit.edu	37	chr12	104049325	104049325	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcattgaataacatgaAggacggcactctcgattacc	9	9	1	3			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr12:104049325A>C	uc001tjw.2	+	15	1886	c.1700A>C	c.(1699-1701)AAG>ACG	p.K567T		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	567	Extracellular (Potential).|FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						AATAACATGAAGGACGGCACT	0.458													C	104049325	A	C	104049325	3	2	154	1	0	0	0	0	1	0	0	0	15237	72	3	5	1758	5	STAB2	12	104049325	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	15576322	104049325	29802570	126	83111											
DDX54	79039	broad.mit.edu	37	chr12	113603492	113603492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtccaccagcctcagcCgctgcagctcctcctcctca	7	20	2	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr12:113603492C>T	uc001tup.2	-	14	1704	c.1676G>A	c.(1675-1677)CGG>CAG	p.R559Q	DDX54_uc001tuq.3_Missense_Mutation_p.R559Q	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	559					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						CAGCCTCAGCCGCTGCAGCTC	0.607													T	113603492	C	T	113603492	3	4	154	1	0	0	0	0	1	0	0	0	4372	652	23	1	1000	1	DDX54	12	113603492	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	9554167	113603492	20248403	127	83112											
KSR2	283455	broad.mit.edu	37	chr12	118298219	118298219	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggacagctgccggctgaaGtacttcaccagcttgctctg	11	13	2	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr12:118298219G>C	uc001two.2	-	2	166	c.111C>G	c.(109-111)TAC>TAG	p.Y37*		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	66					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCGGCTGAAGTACTTCACCA	0.592													C	118298219	G	C	118298219	4	2	154	1	0	0	0	0	0	1	0	0	8582	1024	36	5	2730	5	KSR2	12	118298219	Nonsense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	4694727	118298219	15553676	128	83113											
TRPC4	7223	broad.mit.edu	37	chr13	38320315	38320315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaacttaactgaaaggctGtgagaaaaggatcttcgctt	9	9	1	2	rs79170793		TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr13:38320315G>A	uc001uws.2	-	3	891	c.656C>T	c.(655-657)ACA>ATA	p.T219I	TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Missense_Mutation_p.T219I|TRPC4_uc010tey.1_Missense_Mutation_p.T219I|TRPC4_uc010abw.2_Intron|TRPC4_uc010abx.2_Missense_Mutation_p.T219I|TRPC4_uc010aby.2_Missense_Mutation_p.T219I	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	219	Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTGAAAGGCTGTGAGAAAAGG	0.488													A	38320315	G	A	38320315	3	1	154	1	0	0	0	0	1	0	0	0	16577	1377	48	4	2328	4	TRPC4	13	38320315	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08		38320315	76849563	129	83114											
DHRS4L1	728635	broad.mit.edu	37	chr14	24505773	24505773	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcggtgcggttggccagcTccgggatgacccgccgggac	17	13	0	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr14:24505773T>C	uc010alc.2	+	1	64	c.64T>C	c.(64-66)TCC>CCC	p.S22P	DHRS4L1_uc010tnu.1_RNA	NM_001082488	NP_001075957	P0CG22	DR4L1_HUMAN	dehydrogenase/reductase (SDR family) member 4	22							binding|oxidoreductase activity				0						GTTGGCCAGCTCCGGGATGAC	0.647													C	24505773	T	C	24505773	3	2	154	1	0	0	0	0	1	0	0	0	4493	1551	54	3	66	3	DHRS4L1	14	24505773	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08		24505773	82843767	130	83115											
PNN	5411	broad.mit.edu	37	chr14	39646862	39646862	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtagagaccttatccaggaTcaaaatatggatgaaaaggg	11	6	1	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr14:39646862T>A	uc001wuw.3	+	5	490	c.393T>A	c.(391-393)GAT>GAA	p.D131E		NM_002687	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	131	Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			ovary(1)	1	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TTATCCAGGATCAAAATATGG	0.398													A	39646862	T	A	39646862	3	1	154	1	0	0	0	0	1	0	0	0	12160	1432	50	5	411	5	PNN	14	39646862	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	15141089	39646862	67702678	131	83116											
SYNE2	23224	broad.mit.edu	37	chr14	64518714	64518714	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcagatgaagaggatttggGgagaaaaagaaaagaagaat	13	1	1	7			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr14:64518714G>T	uc001xgm.2	+	48	8313	c.8083G>T	c.(8083-8085)GGA>TGA	p.G2695*	SYNE2_uc001xgl.2_Nonsense_Mutation_p.G2695*	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2695	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAGGATTTGGGGAGAAAAAGA	0.393													T	64518714	G	T	64518714	4	4	154	1	0	0	0	0	0	1	0	0	15443	1233	43	5	8269	5	SYNE2	14	64518714	Nonsense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	24871852	64518714	42830826	132	83117											
ADAM21	8747	broad.mit.edu	37	chr14	70925106	70925106	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcatgatgctgcacataTgttcataaaaaattcactta	5	8	2	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr14:70925106T>C	uc001xmd.2	+	1	890	c.890T>C	c.(889-891)ATG>ACG	p.M297T		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	297	Peptidase M12B.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCTGCACATATGTTCATAAAA	0.383													C	70925106	T	C	70925106	3	2	154	1	0	0	0	0	1	0	0	0	243	1464	51	3	892	3	ADAM21	14	70925106	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	6406392	70925106	36424434	133	83118											
GABRA5	2558	broad.mit.edu	37	chr15	27114465	27114465	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttttgtatttccatgaacTtatccagtcactttgggtaa	6	8	2	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr15:27114465T>G	uc001zbd.1	+	4	409	c.70T>G	c.(70-72)TTA>GTA	p.L24V	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	24					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCCATGAACTTATCCAGTCA	0.393													G	27114465	T	G	27114465	3	3	154	1	0	0	0	0	1	0	0	0	6164	1606	56	5	72	5	GABRA5	15	27114465	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08		27114465	75416927	134	83119											
OCA2	4948	broad.mit.edu	37	chr15	28196946	28196946	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccaagatcaagatgaatGccagggacaaacgaattgag	10	8	2	4			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr15:28196946G>A	uc001zbh.3	-	18	2045	c.1935C>T	c.(1933-1935)GGC>GGT	p.G645G	OCA2_uc010ayv.2_Silent_p.G621G	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	645	Extracellular (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CAAGATGAATGCCAGGGACAA	0.433									Oculocutaneous_Albinism				A	28196946	G	A	28196946	2	1	154	1	0	0	0	0	0	0	0	1	10815	1306	46	2		2	OCA2	15	28196946	Silent	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	1082481	28196946	74334446	135	83120											
RYR3	6263	broad.mit.edu	37	chr15	33925224	33925224	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgttacctcctcaagaaaTtttagtggataagcttgcag	9	8	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr15:33925224T>G	uc001zhi.2	+	24	3012	c.2942T>G	c.(2941-2943)ATT>AGT	p.I981S	RYR3_uc010bar.2_Missense_Mutation_p.I981S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	981	2.|4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTCAAGAAATTTTAGTGGAT	0.393													G	33925224	T	G	33925224	3	3	154	1	0	0	0	0	1	0	0	0	13770	1493	52	5	3036	5	RYR3	15	33925224	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	5728278	33925224	68606168	136	83121											
RYR3	6263	broad.mit.edu	37	chr15	33954664	33954664	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggaatatccgcctcttcccgGacgagtccaagaggcatgga	12	12	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr15:33954664G>T	uc001zhi.2	+	35	5003	c.4933G>T	c.(4933-4935)GAC>TAC	p.D1645Y	RYR3_uc010bar.2_Missense_Mutation_p.D1645Y	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1645	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTCTTCCCGGACGAGTCCAA	0.572													T	33954664	G	T	33954664	3	4	154	1	0	0	0	0	1	0	0	0	13770	1174	41	5	5071	5	RYR3	15	33954664	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	29440	33954664	68576728	137	83122											
TMEM87A	25963	broad.mit.edu	37	chr15	42560228	42560228	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caggtcacaaggttctccatCaactacaaaagaagaaatct	6	10	4	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr15:42560228C>G	uc010udd.1	-	3	367	c.208G>C	c.(208-210)GAT>CAT	p.D70H	TMEM87A_uc001zpf.3_Missense_Mutation_p.D9H|TMEM87A_uc010bcu.1_Missense_Mutation_p.D9H|TMEM87A_uc001zpg.2_Missense_Mutation_p.D70H	NM_015497	NP_056312	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A isoform 1	70						integral to membrane				ovary(1)	1		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		GGTTCTCCATCAACTACAAAA	0.313													G	42560228	C	G	42560228	3	3	154	1	0	0	0	0	1	0	0	0	16207	826	29	5	1577	5	TMEM87A	15	42560228	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	8605564	42560228	59971164	138	83123											
CEP152	22995	broad.mit.edu	37	chr15	49083523	49083523	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctctctttcttttccattctGaaagagtttctgtgattctc	5	10	5	3			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr15:49083523G>C	uc001zwy.2	-	8	917	c.883C>G	c.(883-885)CAG>GAG	p.Q295E	CEP152_uc001zwz.2_Missense_Mutation_p.Q295E|CEP152_uc001zxa.1_Missense_Mutation_p.Q202E	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	295	Potential.				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTTCCATTCTGAAAGAGTTTC	0.363													C	49083523	G	C	49083523	3	2	154	1	0	0	0	0	1	0	0	0	3248	1299	45	5	4157	5	CEP152	15	49083523	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	6523295	49083523	53447869	139	83124											
CILP	8483	broad.mit.edu	37	chr15	65489129	65489129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaggccaccactccaccCtggcgctggccacccctgct	10	19	0	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr15:65489129C>T	uc002aon.2	-	9	3676	c.3495G>A	c.(3493-3495)CAG>CAA	p.Q1165Q		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	1165					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						CCACTCCACCCTGGCGCTGGC	0.587													T	65489129	C	T	65489129	2	4	154	1	0	0	0	0	0	0	0	1	3429	680	24	4		4	CILP	15	65489129	Silent	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	16405606	65489129	37042263	140	83125											
C15orf58	390637	broad.mit.edu	37	chr15	90784534	90784534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcaacaagatccggcccGgagaagtcctcttccgtttg	9	13	2	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr15:90784534G>A	uc002bpc.2	+	4	573	c.394G>A	c.(394-396)GGA>AGA	p.G132R		NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	hypothetical protein LOC390637	132					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity				0						GATCCGGCCCGGAGAAGTCCT	0.587													A	90784534	G	A	90784534	3	1	154	1	0	0	0	0	1	0	0	0	1806	1117	39	1	396	1	C15orf58	15	90784534	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	25295405	90784534	11746858	141	83126											
GLYR1	84656	broad.mit.edu	37	chr16	4882044	4882044	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cttgggctcttttcagagggGatttggagcctctctctgaa	12	9	4	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr16:4882044G>T	uc002cxx.3	-	5	510	c.473C>A	c.(472-474)TCC>TAC	p.S158Y	GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Missense_Mutation_p.S89Y|GLYR1_uc002cya.2_Missense_Mutation_p.S158Y|GLYR1_uc010uxv.1_Intron	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	158					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0						TTTCAGAGGGGATTTGGAGCC	0.522													T	4882044	G	T	4882044	3	4	154	1	0	0	0	0	1	0	0	0	6483	1174	41	5	1236	5	GLYR1	16	4882044	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08		4882044	85472709	142	83127											
ABR	29	broad.mit.edu	37	chr17	910419	910419	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggtacctgcgccatgacgtCatgggaccagatgtccgcag	14	12	1	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:910419C>T	uc002fsd.2	-	22	2586	c.2476G>A	c.(2476-2478)GAC>AAC	p.D826N	ABR_uc002fse.2_Missense_Mutation_p.D780N|ABR_uc010vqf.1_Missense_Mutation_p.D277N|ABR_uc010vqg.1_Missense_Mutation_p.D608N|ABR_uc002fsg.2_Missense_Mutation_p.D789N|ABR_uc002fsf.2_Missense_Mutation_p.D363N	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	826	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GCCATGACGTCATGGGACCAG	0.652													T	910419	C	T	910419	3	4	154	1	0	0	0	0	1	0	0	0	99	826	29	4	111	4	ABR	17	910419	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08		910419	80284791	143	83128											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	15	11	1	2	rs11540652		TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:7577538C>T	uc002gim.2	-	7	937	c.743G>A	c.(742-744)CGG>CAG	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577538	C	T	7577538	3	4	154	1	0	0	0	0	1	0	0	0	16378	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	6667119	7577538	73617672	144	83129											
DNAH9	1770	broad.mit.edu	37	chr17	11671866	11671866	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccatctttgactattacatcGacccagagaccaagaaattc	5	12	1	3			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:11671866G>T	uc002gne.2	+	37	7335	c.7267G>T	c.(7267-7269)GAC>TAC	p.D2423Y	DNAH9_uc010coo.2_Missense_Mutation_p.D1717Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2423					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTATTACATCGACCCAGAGAC	0.527													T	11671866	G	T	11671866	3	4	154	1	0	0	0	0	1	0	0	0	4608	1058	37	5	7413	5	DNAH9	17	11671866	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	4094328	11671866	69523344	145	83130											
SREBF1	6720	broad.mit.edu	37	chr17	17718001	17718001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccgcctcctcatcccgcCgcagccagtggatcaccaca	8	20	2	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:17718001C>T	uc002gru.1	-	15	2857	c.2663G>A	c.(2662-2664)CGG>CAG	p.R888Q	SREBF1_uc002gro.3_5'Flank|SREBF1_uc002grp.1_Missense_Mutation_p.R507Q|SREBF1_uc002grq.1_Missense_Mutation_p.R407Q|SREBF1_uc002grr.1_Missense_Mutation_p.R634Q|SREBF1_uc002grs.1_Missense_Mutation_p.R864Q|SREBF1_uc002grt.1_Missense_Mutation_p.R918Q|MIR33B_hsa-mir-33b|MI0003646_5'Flank	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	888	Cytoplasmic (Potential).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						CTCATCCCGCCGCAGCCAGTG	0.672													T	17718001	C	T	17718001	3	4	154	1	0	0	0	0	1	0	0	0	15140	652	23	1	800	1	SREBF1	17	17718001	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	6046135	17718001	63477209	146	83131											
ATAD5	79915	broad.mit.edu	37	chr17	29220647	29220647	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgatcaatctattagcctGtcctctgtatcatcttcctc	4	14	5	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:29220647G>A	uc002hfs.1	+	21	5122	c.4776G>A	c.(4774-4776)CTG>CTA	p.L1592L		NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1592	Poly-Ser.				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTATTAGCCTGTCCTCTGTAT	0.368													A	29220647	G	A	29220647	2	1	154	1	0	0	0	0	0	0	0	1	1076	1364	48	4		4	ATAD5	17	29220647	Silent	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	11502646	29220647	51974563	147	83132											
AP2B1	163	broad.mit.edu	37	chr17	33966626	33966626	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcatcaggtatgaaagtatCatcgccactctgtgtgagaa	9	8	4	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:33966626C>G	uc002hjr.2	+	11	1473	c.1284C>G	c.(1282-1284)ATC>ATG	p.I428M	AP2B1_uc002hjq.2_Missense_Mutation_p.I428M|AP2B1_uc010wci.1_Missense_Mutation_p.I390M|AP2B1_uc002hjs.2_Missense_Mutation_p.I371M|AP2B1_uc002hjt.2_Missense_Mutation_p.I428M|AP2B1_uc010ctv.2_Missense_Mutation_p.I428M|AP2B1_uc010wcj.1_Missense_Mutation_p.I165M	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	428					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ATGAAAGTATCATCGCCACTC	0.398													G	33966626	C	G	33966626	3	3	154	1	0	0	0	0	1	0	0	0	741	816	29	5	1322	5	AP2B1	17	33966626	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	4745979	33966626	47228584	148	83133											
TAF15	8148	broad.mit.edu	37	chr17	34171905	34171905	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggggggctatggaggagaCcgtggtggtggcagtggcta	22	6	0	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:34171905C>T	uc002hkd.2	+	15	1688	c.1602C>T	c.(1600-1602)GAC>GAT	p.D534D	TAF15_uc002hkc.2_Silent_p.D531D	NM_139215	NP_631961	Q92804	RBP56_HUMAN	TBP-associated factor 15 isoform 1	534	Arg/Gly-rich.|17.|21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	bone(33)|lung(1)|skin(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ATGGAGGAGACCGTGGTGGTG	0.418			T	TEC|CHN1|ZNF384	extraskeletal myxoid chondrosarcomas|ALL								T	34171905	C	T	34171905	2	4	154	1	0	0	0	0	0	0	0	1	15515	506	18	4		4	TAF15	17	34171905	Silent	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	205279	34171905	47023305	149	83134											
CASC3	22794	broad.mit.edu	37	chr17	38319064	38319064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatgagcaggccccaaagtCccgacaggagctcattgctc	11	13	1	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:38319064C>T	uc010cwt.1	+	6	990	c.695C>T	c.(694-696)TCC>TTC	p.S232F	CASC3_uc010cws.1_Missense_Mutation_p.S232F|CASC3_uc002hue.2_Missense_Mutation_p.S232F	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	232	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						GCCCCAAAGTCCCGACAGGAG	0.512													T	38319064	C	T	38319064	3	4	154	1	0	0	0	0	1	0	0	0	2661	855	30	4	717	4	CASC3	17	38319064	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	4147159	38319064	42876146	150	83135			1	42		6	6	6618	C		1.204591e-09
CASC3	22794	broad.mit.edu	37	chr17	38324513	38324513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggcctctatcccccacCagtgtccatgtctccaggac	7	18	2	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:38324513C>T	uc010cwt.1	+	11	2103	c.1808C>T	c.(1807-1809)CCA>CTA	p.P603L	CASC3_uc002hue.2_Missense_Mutation_p.P603L	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	603	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						TATCCCCCACCAGTGTCCATG	0.488											OREG0024392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	38324513	C	T	38324513	3	4	154	1	0	0	0	0	1	0	0	0	2661	594	21	4	1850	4	CASC3	17	38324513	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	5449	38324513	42870697	151	83136			1	42		6	6	6618	C		1.204591e-09
CASC3	22794	broad.mit.edu	37	chr17	38324586	38324586	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacttttctgctccaggcgtCatgaactttggtaatcccag	8	11	2	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:38324586C>T	uc010cwt.1	+	11	2176	c.1881C>T	c.(1879-1881)GTC>GTT	p.V627V	CASC3_uc002hue.2_Silent_p.V627V	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	627	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CTCCAGGCGTCATGAACTTTG	0.542											OREG0024392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	38324586	C	T	38324586	2	4	154	1	0	0	0	0	0	0	0	1	2661	813	29	4		4	CASC3	17	38324586	Silent	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	73	38324586	42870624	152	83137			1	42		6	6	6618	C		1.204591e-09
CASC3	22794	broad.mit.edu	37	chr17	38324639	38324639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggggcactgcctccccCaccaccgcctcatctgtatc	7	20	2	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:38324639C>T	uc010cwt.1	+	11	2229	c.1934C>T	c.(1933-1935)CCA>CTA	p.P645L	CASC3_uc002hue.2_Missense_Mutation_p.P645L	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	645	Necessary for localization in cytoplasmic stress granules.|Poly-Pro.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CTGCCTCCCCCACCACCGCCT	0.478											OREG0024392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	38324639	C	T	38324639	3	4	154	1	0	0	0	0	1	0	0	0	2661	594	21	4	1976	4	CASC3	17	38324639	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	53	38324639	42870571	153	83138			1	42		6	6	6618	C		1.204591e-09
CASC3	22794	broad.mit.edu	37	chr17	38325584	38325584	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtggggtcccaggccccatCacaggtatatggaggagtga	15	9	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:38325584C>T	uc010cwt.1	+	12	2268	c.1973C>T	c.(1972-1974)TCA>TTA	p.S658L	CASC3_uc002hue.2_Missense_Mutation_p.S658L	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	658	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CAGGCCCCATCACAGGTATAT	0.517													T	38325584	C	T	38325584	3	4	154	1	0	0	0	0	1	0	0	0	2661	838	29	4	2019	4	CASC3	17	38325584	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	945	38325584	42869626	154	83139			1	42		6	6	6618	C		1.204591e-09
CASC3	22794	broad.mit.edu	37	chr17	38325681	38325681	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actccccagccagtcaccatCaagccccctccacctgaggt	6	20	2	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:38325681C>T	uc010cwt.1	+	12	2365	c.2070C>T	c.(2068-2070)ATC>ATT	p.I690I	CASC3_uc002hue.2_Silent_p.I690I	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	690	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CAGTCACCATCAAGCCCCCTC	0.557													T	38325681	C	T	38325681	2	4	154	1	0	0	0	0	0	0	0	1	2661	816	29	4		4	CASC3	17	38325681	Silent	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	97	38325681	42869529	155	83140			1	42		6	6	6618	C		1.204591e-09
HAP1	9001	broad.mit.edu	37	chr17	39890671	39890671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccttggctccagcctcCgaggccgggcgagctccggt	14	17	0	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:39890671C>T	uc002hxm.1	-	1	228	c.216G>A	c.(214-216)TCG>TCA	p.S72S	JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Silent_p.S72S|HAP1_uc002hxo.1_Silent_p.S72S|HAP1_uc002hxp.1_Silent_p.S72S	NM_177977	NP_817084	P54257	HAP1_HUMAN	huntingtin-associated protein 1 isoform 2	72					brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			ovary(2)	2		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CTCCAGCCTCCGAGGCCGGGC	0.697													T	39890671	C	T	39890671	2	4	154	1	0	0	0	0	0	0	0	1	6953	639	23	1		1	HAP1	17	39890671	Silent	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	1564990	39890671	41304539	156	83141											
EPN3	55040	broad.mit.edu	37	chr17	48619031	48619031	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggcaccccaggttgcaAagacccggaaccccttcctg	9	16	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:48619031A>G	uc002ira.3	+	9	1996	c.1561A>G	c.(1561-1563)AAG>GAG	p.K521E	SPATA20_uc002irc.2_5'Flank|EPN3_uc010wms.1_Missense_Mutation_p.K549E|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.K494E	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	epsin 3	521						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			ovary(1)	1	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CCAGGTTGCAAAGACCCGGAA	0.607													G	48619031	A	G	48619031	3	3	154	1	0	0	0	0	1	0	0	0	5187	15	1	3	1591	3	EPN3	17	48619031	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	8728360	48619031	32576179	157	83142											
LPO	4025	broad.mit.edu	37	chr17	56326946	56326946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaagcctgcgctgggcGccgccaacagggctctggcg	18	13	1	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:56326946G>A	uc002ivt.2	+	6	779	c.463G>A	c.(463-465)GCC>ACC	p.A155T	LPO_uc010dco.2_Missense_Mutation_p.A155T|LPO_uc010wnr.1_Missense_Mutation_p.A72T|LPO_uc010wns.1_Missense_Mutation_p.A96T|LPO_uc010dcp.2_Missense_Mutation_p.A72T|LPO_uc010dcq.2_5'UTR|LPO_uc010dcr.2_5'Flank	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	155					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2						TGCGCTGGGCGCCGCCAACAG	0.716													A	56326946	G	A	56326946	3	1	154	1	0	0	0	0	1	0	0	0	8922	1087	38	1	481	1	LPO	17	56326946	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	7707915	56326946	24868264	158	83143											
CYGB	114757	broad.mit.edu	37	chr17	74527570	74527570	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaccggttccaccttgtgcTtgagggcgtgggctttcccc	12	14	0	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:74527570T>G	uc002jru.1	-	2	505	c.347A>C	c.(346-348)AAG>ACG	p.K116T	CYGB_uc002jrv.1_Missense_Mutation_p.K51T|PRCD_uc002jrw.1_Intron	NM_134268	NP_599030	Q8WWM9	CYGB_HUMAN	cytoglobin	116	Globin.				response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity				0						CACCTTGTGCTTGAGGGCGTG	0.637													G	74527570	T	G	74527570	3	3	154	1	0	0	0	0	1	0	0	0	4139	1609	56	5	237	5	CYGB	17	74527570	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	18200624	74527570	6667640	159	83144											
CD7	924	broad.mit.edu	37	chr17	80274791	80274791	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccacgcaggcccccgctgGtggagcaggtgatgttgacg	15	13	0	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:80274791G>T	uc002kel.1	-	2	258	c.149C>A	c.(148-150)ACC>AAC	p.T50N	CD7_uc010din.2_Missense_Mutation_p.T50N|CD7_uc002kem.2_Missense_Mutation_p.H31Q|CD7_uc010wvk.1_Missense_Mutation_p.T50N	NM_006137	NP_006128	P09564	CD7_HUMAN	CD7 antigen precursor	50	Ig-like.|Extracellular (Probable).				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity				0	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			GCCCCCGCTGGTGGAGCAGGT	0.647													T	80274791	G	T	80274791	3	4	154	1	0	0	0	0	1	0	0	0	3032	1261	44	5	585	5	CD7	17	80274791	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	5747221	80274791	920419	160	83145											
FAM38B	63895	broad.mit.edu	37	chr18	10689765	10689765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacacccagtccatcactGccctcagctcagtcaaaaag	5	17	4	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr18:10689765G>A	uc002kor.3	-	7	1057	c.917C>T	c.(916-918)GCA>GTA	p.A306V	FAM38B_uc002koq.2_Missense_Mutation_p.A204V	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2349						integral to membrane	ion channel activity			ovary(1)	1						GTCCATCACTGCCCTCAGCTC	0.562													A	10689765	G	A	10689765	3	1	154	1	0	0	0	0	1	0	0	0	5555	1319	46	2	1244	2	FAM38B	18	10689765	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08		10689765	67387483	161	83146											
CEP76	79959	broad.mit.edu	37	chr18	12678251	12678251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acacacagatttaattgcttCctcactcatgggtttccatt	5	11	2	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr18:12678251C>T	uc002kri.2	-	10	1636	c.1480G>A	c.(1480-1482)GAA>AAA	p.E494K	PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_Missense_Mutation_p.E316K|CEP76_uc010wzz.1_Missense_Mutation_p.E419K	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	494					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding				0						TTAATTGCTTCCTCACTCATG	0.443													T	12678251	C	T	12678251	3	4	154	1	0	0	0	0	1	0	0	0	3261	864	30	4	511	4	CEP76	18	12678251	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	1988486	12678251	65398997	162	83147											
CELF4	56853	broad.mit.edu	37	chr18	34850769	34850769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattggcgaacacagcttccGcagcaggttgcccattggcc	11	14	0	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr18:34850769G>A	uc002lae.2	-	8	1457	c.1061C>T	c.(1060-1062)GCG>GTG	p.A354V	CELF4_uc010dnd.1_Missense_Mutation_p.A352V|CELF4_uc002lag.2_Missense_Mutation_p.A344V|CELF4_uc002laf.2_Missense_Mutation_p.A349V|CELF4_uc002lai.2_Missense_Mutation_p.A339V|CELF4_uc002lah.1_Missense_Mutation_p.A79V	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	354					embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						CACAGCTTCCGCAGCAGGTTG	0.587													A	34850769	G	A	34850769	3	1	154	1	0	0	0	0	1	0	0	0	3218	1087	38	1	419	1	CELF4	18	34850769	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	22172518	34850769	43226479	163	83148											
DSEL	92126	broad.mit.edu	37	chr18	65178783	65178783	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaatgccctcatcgaagcTcctaaaacttcctgaaaaaa	4	12	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr18:65178783T>C	uc002lke.1	-	2	4317	c.3093A>G	c.(3091-3093)GGA>GGG	p.G1031G		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1021						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				TCATCGAAGCTCCTAAAACTT	0.408													C	65178783	T	C	65178783	2	2	154	1	0	0	0	0	0	0	0	1	4775	1538	54	3		3	DSEL	18	65178783	Silent	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	30328014	65178783	12898465	164	83149											
SALL3	27164	broad.mit.edu	37	chr18	76754298	76754298	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcggccagatccccaacacGccgctgccggagggcttcca	13	17	0	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr18:76754298G>T	uc002lmt.2	+	2	2307	c.2307G>T	c.(2305-2307)ACG>ACT	p.T769T	SALL3_uc010dra.2_Silent_p.T376T	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	769					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCCCCAACACGCCGCTGCCGG	0.632													T	76754298	G	T	76754298	2	4	154	1	0	0	0	0	0	0	0	1	13812	1074	38	5		5	SALL3	18	76754298	Silent	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	11575515	76754298	1322950	165	83150											
SH3GL1	6455	broad.mit.edu	37	chr19	4361603	4361603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacacgggtgagtcactgCggcaggggcacaagcacctc	16	12	1	1	rs146571406	byFrequency	TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr19:4361603C>T	uc002maj.2	-	10	1207	c.1101G>A	c.(1099-1101)CCG>CCA	p.P367P	SH3GL1_uc002mak.2_Silent_p.P303P|SH3GL1_uc010xig.1_Silent_p.P319P	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	367					central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TGAGTCACTGCGGCAGGGGCA	0.687			T	MLL	AL								T	4361603	C	T	4361603	2	4	154	1	0	0	0	0	0	0	0	1	14250	755	27	1		1	SH3GL1	19	4361603	Silent	SNP	C	TCGA-CD-A487-01A-21D-A24D-08		4361603	54767380	166	83151											
RANBP3	8498	broad.mit.edu	37	chr19	5917643	5917643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgctcccggtcgtctgcCcgtccccttcgtcaccagca	9	18	2	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr19:5917643C>T	uc002mdw.2	-	17	1909	c.1682G>A	c.(1681-1683)GGG>GAG	p.G561E	RANBP3_uc002mdv.2_Missense_Mutation_p.G280E|RANBP3_uc002mdx.2_Missense_Mutation_p.G556E|RANBP3_uc002mdy.2_Missense_Mutation_p.G493E|RANBP3_uc002mdz.2_Missense_Mutation_p.G488E|RANBP3_uc010duq.2_Missense_Mutation_p.G466E|RANBP3_uc002mea.2_Missense_Mutation_p.G428E|RANBP3_uc010xix.1_Missense_Mutation_p.G433E	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	561					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1						GGTCGTCTGCCCGTCCCCTTC	0.706													T	5917643	C	T	5917643	3	4	154	1	0	0	0	0	1	0	0	0	13029	623	22	4	25	4	RANBP3	19	5917643	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	1556040	5917643	53211340	167	83152											
DCAF15	90379	broad.mit.edu	37	chr19	14069937	14069937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccctgagccccagagcCcagagctgccccctgccctc	9	23	0	3			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr19:14069937C>T	uc002mxt.2	+	7	871	c.865C>T	c.(865-867)CCA>TCA	p.P289S	DCAF15_uc002mxu.2_5'Flank	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	289										central_nervous_system(1)	1						GCCCCAGAGCCCAGAGCTGCC	0.662													T	14069937	C	T	14069937	3	4	154	1	0	0	0	0	1	0	0	0	4267	623	22	4	891	4	DCAF15	19	14069937	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	8152294	14069937	45059046	168	83153											
ZNF208	7757	broad.mit.edu	37	chr19	22156505	22156505	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctccagtgtgaattttcTtatgttccataaggtttgag	8	7	2	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr19:22156505T>G	uc002nqp.2	-	4	1480	c.1331A>C	c.(1330-1332)AAG>ACG	p.K444T	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTGAATTTTCTTATGTTCCAT	0.373													G	22156505	T	G	22156505	3	3	154	1	0	0	0	0	1	0	0	0	17763	1609	56	5	2515	5	ZNF208	19	22156505	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	8086568	22156505	36972478	169	83154											
CCNE1	898	broad.mit.edu	37	chr19	30308420	30308420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttctgcagccaaaaatgcGagcaattcttctggattggt	9	9	4	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr19:30308420G>A	uc002nsn.2	+	6	617	c.434G>A	c.(433-435)CGA>CAA	p.R145Q	CCNE1_uc002nso.2_Missense_Mutation_p.R130Q	NM_001238	NP_001229	P24864	CCNE1_HUMAN	cyclin E1 isoform 1	145					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			lung(2)	2	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			CCAAAAATGCGAGCAATTCTT	0.418													A	30308420	G	A	30308420	3	1	154	1	0	0	0	0	1	0	0	0	2920	1058	37	1	452	1	CCNE1	19	30308420	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	8151915	30308420	28820563	170	83155											
CHST8	64377	broad.mit.edu	37	chr19	34263938	34263938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggattacctgatgttcaaCtattccaagccctttgcaga	7	10	1	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr19:34263938C>T	uc002nus.3	+	5	1750	c.1245C>T	c.(1243-1245)AAC>AAT	p.N415N	CHST8_uc002nut.3_Silent_p.N415N|CHST8_uc002nuu.2_Silent_p.N415N	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	415	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					TGATGTTCAACTATTCCAAGC	0.622													T	34263938	C	T	34263938	2	4	154	1	0	0	0	0	0	0	0	1	3410	564	20	4		4	CHST8	19	34263938	Silent	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	3955518	34263938	24865045	171	83156											
BCKDHA	593	broad.mit.edu	37	chr19	41903737	41903737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggttgttagccaagatggCggtagcgatcgctgcagcga	16	8	0	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr19:41903737C>T	uc002oqq.2	+	1	34	c.5C>T	c.(4-6)GCG>GTG	p.A2V	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Intron|EXOSC5_uc002oqo.2_5'Flank|BCKDHA_uc002oqp.1_5'UTR|BCKDHA_uc002oqr.2_Missense_Mutation_p.A2V|BCKDHA_uc010xvz.1_Missense_Mutation_p.A2V	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	2					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0						GCCAAGATGGCGGTAGCGATC	0.622													T	41903737	C	T	41903737	3	4	154	1	0	0	0	0	1	0	0	0	1359	768	27	1	7	1	BCKDHA	19	41903737	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	7639799	41903737	17225246	172	83157											
EML2	24139	broad.mit.edu	37	chr19	46124767	46124767	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcctgcagcttgctgtagtCagaaccccagaggaccaccc	9	15	1	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr19:46124767C>T	uc002pcn.2	-	10	1005	c.970G>A	c.(970-972)GAC>AAC	p.D324N	EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Missense_Mutation_p.D208N|EML2_uc010xxl.1_Missense_Mutation_p.D471N|EML2_uc010xxm.1_Missense_Mutation_p.D525N|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Missense_Mutation_p.D324N|EML2_uc010ekj.2_Silent_p.L290L	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like	324	WD 5.				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TTGCTGTAGTCAGAACCCCAG	0.697													T	46124767	C	T	46124767	3	4	154	1	0	0	0	0	1	0	0	0	5097	826	29	4	1019	4	EML2	19	46124767	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	4221030	46124767	13004216	173	83158											
ZNF677	342926	broad.mit.edu	37	chr19	53741699	53741699	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagacttccttgaggtcaAaattgttgatgccatggctt	9	10	1	3			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr19:53741699A>C	uc002qbf.1	-	5	466	c.281T>G	c.(280-282)TTT>TGT	p.F94C	ZNF677_uc002qbg.1_Missense_Mutation_p.F94C	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)		CTTGAGGTCAAAATTGTTGAT	0.358													C	53741699	A	C	53741699	3	2	154	1	0	0	0	0	1	0	0	0	18081	14	1	5	1477	5	ZNF677	19	53741699	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	7616932	53741699	5387284	174	83159											
NSFL1C	55968	broad.mit.edu	37	chr20	1426465	1426466	+	Frame_Shift_Ins	INS	-	-	G													gagctggtactcaacacctgINSgggggcagtgctgaggagag							TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr20:1426464_1426465T>TG	uc002wfc.3	-	7	1664_1665	c.796_797A>CA	c.(796-798)cagfs	p.Q266fs	NSFL1C_uc021vzq.1_Frame_Shift_Ins_p.Q152fs|NSFL1C_uc002wfe.3_Frame_Shift_Ins_p.Q235fs	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	Homo sapiens NSFL1 (p97) cofactor (p47) (NSFL1C), transcript variant 1, mRNA.	266						Golgi stack|chromosome|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						ACTCAACACCTGGGGGGCAGTG	0.51													G	1426466	-	G	1426465	7	5	154	1	0	1	1	0	0	0	0	0	10672	1357	47	0	324	0	NSFL1C	20	1426465	Frame_Shift_Ins	INS	-	TCGA-CD-A487-01A-21D-A24D-08		1426465	61599055	175	83160											
ADAM33	80332	broad.mit.edu	37	chr20	3653524	3653524	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggcggcggctgcaggcgctGaacacgcgcggaaacgggtg	19	11	0	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr20:3653524G>A	uc002wit.2	-	12	1242	c.1155C>T	c.(1153-1155)TTC>TTT	p.F385F	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Silent_p.F385F|ADAM33_uc002wis.2_5'UTR|ADAM33_uc002wiu.2_Silent_p.F385F|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_3'UTR|ADAM33_uc010zqh.1_3'UTR	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	385	Extracellular (Potential).|Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4						TGCAGGCGCTGAACACGCGCG	0.736													A	3653524	G	A	3653524	2	1	154	1	0	0	0	0	0	0	0	1	250	1281	45	4		4	ADAM33	20	3653524	Silent	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	2227059	3653524	59371996	176	83161											
SPTLC3	55304	broad.mit.edu	37	chr20	13098334	13098334	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgggcacattcaccaaaAgttttggagcttcaggaggt	11	8	3	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr20:13098334A>C	uc002wod.1	+	8	1403	c.1114A>C	c.(1114-1116)AGT>CGT	p.S372R		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	372					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)	ATTCACCAAAAGTTTTGGAGC	0.542													C	13098334	A	C	13098334	3	2	154	1	0	0	0	0	1	0	0	0	15124	72	3	5	1144	5	SPTLC3	20	13098334	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	9444810	13098334	49927186	177	83162											
BPIL3	128859	broad.mit.edu	37	chr20	31625387	31625387	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtggtgcagcagcaaaAgggcaaaaccatcaagcttg	12	10	1	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr20:31625387A>G	uc010zuc.1	+	8	689	c.689A>G	c.(688-690)AAG>AGG	p.K230R	BPIL3_uc010zud.1_Missense_Mutation_p.K169R	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	bactericidal/permeability-increasing	230						extracellular region	lipid binding			ovary(1)|pancreas(1)	2						CAGCAGCAAAAGGGCAAAACC	0.602													G	31625387	A	G	31625387	3	3	154	1	0	0	0	0	1	0	0	0	1493	72	3	3	719	3	BPIL3	20	31625387	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	18527053	31625387	31400133	178	83163											
MMP24	10893	broad.mit.edu	37	chr20	33842556	33842556	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaggaaatgccaaccatgaCggtaaggccatgaggggaca	13	9	0	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr20:33842556C>T	uc002xbu.2	+	4	819	c.816C>T	c.(814-816)GAC>GAT	p.D272D	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	matrix metalloproteinase 24 preproprotein	272	Extracellular (Potential).				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCAACCATGACGGTAAGGCCA	0.557													T	33842556	C	T	33842556	2	4	154	1	0	0	0	0	0	0	0	1	9661	550	19	1		1	MMP24	20	33842556	Silent	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	2217169	33842556	29182964	179	83164											
CSE1L	1434	broad.mit.edu	37	chr20	47679792	47679792	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaattatccactgttgcttTtgacattactggagaagtcc	8	8	0	3			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr20:47679792T>A	uc002xty.2	+	3	273	c.139T>A	c.(139-141)TTG>ATG	p.L47M	CSE1L_uc010zyg.1_Translation_Start_Site|CSE1L_uc010ghx.2_Missense_Mutation_p.L47M	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	47	Importin N-terminal.				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			ACTGTTGCTTTTGACATTACT	0.299													A	47679792	T	A	47679792	3	1	154	1	0	0	0	0	1	0	0	0	3930	1838	64	5	145	5	CSE1L	20	47679792	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	13837236	47679792	15345728	180	83165											
CTCFL	140690	broad.mit.edu	37	chr20	56078626	56078626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgactttgcttcccctgatCcacacttctccgaatgtctg	6	16	2	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr20:56078626C>T	uc010gix.1	-	9	2368	c.1706G>A	c.(1705-1707)GGA>GAA	p.G569E	CTCFL_uc010giw.1_Missense_Mutation_p.G569E|CTCFL_uc002xym.2_Missense_Mutation_p.G569E|CTCFL_uc010giz.1_Missense_Mutation_p.G157E|CTCFL_uc010giy.1_Missense_Mutation_p.G239E|CTCFL_uc010gja.1_Missense_Mutation_p.G519E|CTCFL_uc010gjb.1_Missense_Mutation_p.G569E|CTCFL_uc010gjc.1_Missense_Mutation_p.G569E|CTCFL_uc010gjd.1_Missense_Mutation_p.G569E|CTCFL_uc010gje.2_Missense_Mutation_p.G569E|CTCFL_uc010gjf.2_Missense_Mutation_p.G364E|CTCFL_uc010gjg.2_Missense_Mutation_p.G301E|CTCFL_uc010giu.2_RNA|CTCFL_uc010giv.2_RNA	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	569					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TTCCCCTGATCCACACTTCTC	0.413													T	56078626	C	T	56078626	3	4	154	1	0	0	0	0	1	0	0	0	4001	855	30	4	293	4	CTCFL	20	56078626	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	8398834	56078626	6946894	181	83166											
OSBPL2	9885	broad.mit.edu	37	chr20	60859112	60859112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaattacagcaaaaagaagCtctttatgatctatggcaaa	6	6	2	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr20:60859112C>T	uc002yck.1	+	10	1085	c.883C>T	c.(883-885)CTC>TTC	p.L295F	OSBPL2_uc002ycl.1_Missense_Mutation_p.L283F|OSBPL2_uc011aah.1_Missense_Mutation_p.L203F|OSBPL2_uc002ycm.1_Missense_Mutation_p.L107F	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	oxysterol-binding protein-like protein 2 isoform	295					lipid transport		lipid binding			ovary(1)|central_nervous_system(1)	2	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			CAAAAAGAAGCTCTTTATGAT	0.408													T	60859112	C	T	60859112	3	4	154	1	0	0	0	0	1	0	0	0	11278	797	28	2	917	2	OSBPL2	20	60859112	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	4780486	60859112	2166408	182	83167											
COL20A1	57642	broad.mit.edu	37	chr20	61942989	61942989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcaggtgcaggtcgggCggcccgaggtgctgctggat	18	11	1	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr20:61942989C>T	uc011aau.1	+	13	1652	c.1552C>T	c.(1552-1554)CGG>TGG	p.R518W	COL20A1_uc011aav.1_Missense_Mutation_p.R339W	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	518	Fibronectin type-III 3.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					GCAGGTCGGGCGGCCCGAGGT	0.721													T	61942989	C	T	61942989	3	4	154	1	0	0	0	0	1	0	0	0	3679	759	27	1	1598	1	COL20A1	20	61942989	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	1083877	61942989	1082531	183	83168											
MYT1	4661	broad.mit.edu	37	chr20	62848470	62848470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccatatgggagctaccGgcccaacgtggcccccgcca	10	19	0	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr20:62848470G>A	uc002yii.2	+	11	2046	c.1682G>A	c.(1681-1683)CGG>CAG	p.R561Q	MYT1_uc002yih.2_Missense_Mutation_p.R263Q|MYT1_uc002yij.2_Missense_Mutation_p.R193Q	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	561					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGGAGCTACCGGCCCAACGTG	0.602													A	62848470	G	A	62848470	3	1	154	1	0	0	0	0	1	0	0	0	10106	1116	39	1	1716	1	MYT1	20	62848470	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	905481	62848470	177050	184	83169											
TMPRSS15	5651	broad.mit.edu	37	chr21	19666630	19666630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagccagtcactgctgaCgagagatgcgccgcagagca	12	14	1	3			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr21:19666630C>T	uc002ykw.2	-	21	2474	c.2443G>A	c.(2443-2445)GTC>ATC	p.V815I		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	815	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						TCACTGCTGACGAGAGATGCG	0.577													T	19666630	C	T	19666630	3	4	154	1	0	0	0	0	1	0	0	0	16243	536	19	1	636	1	TMPRSS15	21	19666630	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08		19666630	28463265	185	83170											
KRTAP13-3	337960	broad.mit.edu	37	chr21	31797958	31797958	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaacatgcatagtcaggcaAgaattgcagagcatgtgagt	11	8	1	3			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr21:31797958A>T	uc002yob.1	-	1	273	c.273T>A	c.(271-273)TCT>TCA	p.S91S		NM_181622	NP_853653	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	91	5 X 10 AA approximate repeats.					intermediate filament				ovary(1)|lung(1)	2						TAGTCAGGCAAGAATTGCAGA	0.567													T	31797958	A	T	31797958	2	4	154	1	0	0	0	0	0	0	0	1	8524	59	3	5		5	KRTAP13-3	21	31797958	Silent	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	12131328	31797958	16331937	186	83171											
TTC3	7267	broad.mit.edu	37	chr21	38529049	38529049	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcctctggaatgagaaaTatggtcacaaactagactct	7	9	3	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr21:38529049T>C	uc002yvz.2	+	28	2938	c.2833T>C	c.(2833-2835)TAT>CAT	p.Y945H	TTC3_uc011aee.1_Missense_Mutation_p.Y635H|TTC3_uc002ywa.2_Missense_Mutation_p.Y945H|TTC3_uc002ywb.2_Missense_Mutation_p.Y945H|TTC3_uc010gnf.2_Missense_Mutation_p.Y710H|TTC3_uc002ywc.2_Missense_Mutation_p.Y635H|TTC3_uc002ywd.1_Missense_Mutation_p.Y9H	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	945					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				GAATGAGAAATATGGTCACAA	0.383													C	38529049	T	C	38529049	3	2	154	1	0	0	0	0	1	0	0	0	16694	1406	49	3	2939	3	TTC3	21	38529049	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	6731091	38529049	9600846	187	83172											
COL18A1	80781	broad.mit.edu	37	chr21	46914475	46914475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagggagagccgggcttccGaggacccccggtaagtcggt	16	12	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr21:46914475G>A	uc011afs.1	+	26	3635	c.3614G>A	c.(3613-3615)CGA>CAA	p.R1205Q	COL18A1_uc002zhg.2_Missense_Mutation_p.R790Q|COL18A1_uc002zhi.2_Missense_Mutation_p.R970Q	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1205	Triple-helical region 6 (COL6).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCGGGCTTCCGAGGACCCCCG	0.647													A	46914475	G	A	46914475	3	1	154	1	0	0	0	0	1	0	0	0	3675	1058	37	1	3830	1	COL18A1	21	46914475	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	8385426	46914475	1215420	188	83173											
MYO18B	84700	broad.mit.edu	37	chr22	26423267	26423267	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaccaaagtggacttcgatGacttcctcccagctatccgg	9	13	0	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr22:26423267G>A	uc003abz.1	+	43	7577	c.7327G>A	c.(7327-7329)GAC>AAC	p.D2443N	MYO18B_uc003aca.1_Missense_Mutation_p.D2324N|MYO18B_uc010guy.1_Missense_Mutation_p.D2325N|MYO18B_uc010guz.1_Missense_Mutation_p.D2323N|MYO18B_uc011aka.1_Missense_Mutation_p.D1597N|MYO18B_uc011akb.1_Missense_Mutation_p.D1956N|MYO18B_uc010gva.1_Missense_Mutation_p.D426N|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2443						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						GGACTTCGATGACTTCCTCCC	0.552													A	26423267	G	A	26423267	3	1	154	1	0	0	0	0	1	0	0	0	10066	1290	45	4	7493	4	MYO18B	22	26423267	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08		26423267	24881299	189	83174											
CRYBA4	1413	broad.mit.edu	37	chr22	27019290	27019290	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcttggcttcgagactgtGcgatctttgaaagtgctgag	14	7	1	3			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr22:27019290G>A	uc003acz.3	+	3	167	c.132G>A	c.(130-132)GTG>GTA	p.V44V		NM_001886	NP_001877	P53673	CRBA4_HUMAN	crystallin, beta A4	44	Beta/gamma crystallin 'Greek key' 1.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens				0						TCGAGACTGTGCGATCTTTGA	0.607													A	27019290	G	A	27019290	2	1	154	1	0	0	0	0	0	0	0	1	3909	1306	46	2		2	CRYBA4	22	27019290	Silent	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	596023	27019290	24285276	190	83175											
NEFH	4744	broad.mit.edu	37	chr22	29885531	29885531	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctccagctgaggtcaagtcCccggaaaaggccaagtctcc	10	14	3	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr22:29885531C>A	uc003afo.2	+	4	1973	c.1902C>A	c.(1900-1902)TCC>TCA	p.S634S	NEFH_uc003afp.2_Intron	NM_021076	NP_066554	P12036	NFH_HUMAN	neurofilament, heavy polypeptide 200kDa	634	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|12.|Tail.				cell death|nervous system development	neurofilament					0						AGGTCAAGTCCCCGGAAAAGG	0.458													A	29885531	C	A	29885531	2	1	154	1	0	0	0	0	0	0	0	1	10314	610	22	5		5	NEFH	22	29885531	Silent	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	2866241	29885531	21419035	191	83176											
TMPRSS6	164656	broad.mit.edu	37	chr22	37462911	37462911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtagccggcacacagcatGcgtggcgtcacctggtagcg	15	13	1	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr22:37462911G>A	uc003aqs.1	-	17	2346	c.2232C>T	c.(2230-2232)CGC>CGT	p.R744R	TMPRSS6_uc003aqt.1_Silent_p.R757R	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	744	Peptidase S1.|Extracellular (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)|skin(1)	6						CACACAGCATGCGTGGCGTCA	0.612													A	37462911	G	A	37462911	2	1	154	1	0	0	0	0	0	0	0	1	16248	1306	46	2		2	TMPRSS6	22	37462911	Silent	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	7577380	37462911	13841655	192	83177											
SUN2	25777	broad.mit.edu	37	chr22	39148610	39148610	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaccctgggagtagcgcgtGaggcgctggcttcttcggga	16	11	2	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr22:39148610G>A	uc003awh.1	-	3	308	c.24C>T	c.(22-24)CTC>CTT	p.L8L	SUN2_uc011anz.1_Silent_p.L43L|SUN2_uc011aoa.1_Silent_p.L43L|SUN2_uc003awi.1_Silent_p.L8L|SUN2_uc010gxq.1_Silent_p.L8L|SUN2_uc010gxr.1_Silent_p.L8L|SUN2_uc010gxs.1_Silent_p.L8L	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	unc-84 homolog B	8	Nuclear.|Ser-rich.|LMNA-binding (By similarity).				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			large_intestine(1)|skin(1)	2						AGTAGCGCGTGAGGCGCTGGC	0.597													A	39148610	G	A	39148610	2	1	154	1	0	0	0	0	0	0	0	1	15389	1277	45	4		4	SUN2	22	39148610	Silent	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	1685699	39148610	12155956	193	83178											
MPPED1	758	broad.mit.edu	37	chr22	43898608	43898608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaggcgcgtccagccgcGgttacatgtctttggccaca	13	13	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr22:43898608G>A	uc011apv.1	+	6	1056	c.833G>A	c.(832-834)CGG>CAG	p.R278Q	MPPED1_uc011apw.1_Missense_Mutation_p.R172Q|MPPED1_uc011apx.1_Missense_Mutation_p.R120Q|MPPED1_uc011apy.1_Missense_Mutation_p.R278Q|MPPED1_uc011apz.1_Missense_Mutation_p.R311Q	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	278							hydrolase activity				0		all_neural(38;0.0244)|Ovarian(80;0.0694)				GTCCAGCCGCGGTTACATGTC	0.632													A	43898608	G	A	43898608	3	1	154	1	0	0	0	0	1	0	0	0	9741	1116	39	1	731	1	MPPED1	22	43898608	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	4749998	43898608	7405958	194	83179											
PTCHD1	139411	broad.mit.edu	37	chrX	23411256	23411256	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgacacaaaccattgagTacactactgcccagcaaaag	7	14	0	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chrX:23411256T>C	uc004dal.3	+	3	1629	c.1621T>C	c.(1621-1623)TAC>CAC	p.Y541H		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	541					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						AACCATTGAGTACACTACTGC	0.408													C	23411256	T	C	23411256	3	2	154	1	0	0	0	0	1	0	0	0	12732	1638	57	3	1631	3	PTCHD1	23	23411256	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08		23411256	131859304	195	83180											
CXorf22	170063	broad.mit.edu	37	chrX	35971836	35971836	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgactataaaaccatcaaaAgtaagtgtgaaattaacaaa	5	5	1	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chrX:35971836A>G	uc004ddj.2	+	7	1233	c.1174A>G	c.(1174-1176)AGT>GGT	p.S392G	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	392										large_intestine(1)|lung(1)|ovary(1)	3						AACCATCAAAAGTAAGTGTGA	0.294													G	35971836	A	G	35971836	3	3	154	1	0	0	0	0	1	0	0	0	4102	86	3	3	1200	3	CXorf22	23	35971836	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	12560580	35971836	119298724	196	83181											
TRO	7216	broad.mit.edu	37	chrX	54953054	54953054	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcaagttggggctgcgcCctgggtatgactgggctctc	16	11	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chrX:54953054C>A	uc004dtq.2	+	9	1803	c.1696C>A	c.(1696-1698)CCT>ACT	p.P566T	TRO_uc004dts.2_Missense_Mutation_p.P566T|TRO_uc004dtr.2_Missense_Mutation_p.P566T|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Missense_Mutation_p.P169T|TRO_uc011mok.1_Missense_Mutation_p.P97T|TRO_uc004dtw.2_Missense_Mutation_p.P169T|TRO_uc004dtx.2_5'UTR	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	566	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						GGGGCTGCGCCCTGGGTATGA	0.577													A	54953054	C	A	54953054	3	1	154	1	0	0	0	0	1	0	0	0	16571	623	22	5	1726	5	TRO	23	54953054	Missense_Mutation	SNP	C	TCGA-CD-A487-01A-21D-A24D-08	18981218	54953054	100317506	197	83182											
MTMR8	55613	broad.mit.edu	37	chrX	63569939	63569939	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accactatttcaggagggtaGgtgctgcatatctaaaagaa	10	7	2	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chrX:63569939G>C	uc004dvs.2	-	5	548	c.480C>G	c.(478-480)ACC>ACG	p.T160T	MTMR8_uc011mou.1_Silent_p.T160T|MTMR8_uc004dvt.1_Silent_p.T160T	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	160	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						CAGGAGGGTAGGTGCTGCATA	0.348													C	63569939	G	C	63569939	2	2	154	1	0	0	0	0	0	0	0	1	9949	987	35	5		5	MTMR8	23	63569939	Silent	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	8616885	63569939	91700621	198	83183											
NAP1L2	4674	broad.mit.edu	37	chrX	72433060	72433060	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcataaattgcatcattaacTtctctaactaccccctcctg	2	14	3	0			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chrX:72433060T>G	uc004ebi.2	-	1	1625	c.1269A>C	c.(1267-1269)GAA>GAC	p.E423D	NAP1L2_uc011mqj.1_Missense_Mutation_p.E281D	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	423					nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)					CATCATTAACTTCTCTAACTA	0.348													G	72433060	T	G	72433060	3	3	154	1	0	0	0	0	1	0	0	0	10157	1606	56	5	117	5	NAP1L2	23	72433060	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	8863121	72433060	82837500	199	83184											
KIAA2022	340533	broad.mit.edu	37	chrX	73959940	73959940	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgcagtattacctcagTttttcaaaagaagctgtccc	8	10	2	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chrX:73959940T>G	uc004eby.2	-	3	5069	c.4452A>C	c.(4450-4452)AAA>AAC	p.K1484N		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1484					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						ATTACCTCAGTTTTTCAAAAG	0.478													G	73959940	T	G	73959940	3	3	154	1	0	0	0	0	1	0	0	0	8269	1722	60	5	106	5	KIAA2022	23	73959940	Missense_Mutation	SNP	T	TCGA-CD-A487-01A-21D-A24D-08	1526880	73959940	81310620	200	83185											
KIAA2022	340533	broad.mit.edu	37	chrX	73962104	73962104	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgatgtcccaggaataActtcattctttaaattagcc	6	8	2	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chrX:73962104A>C	uc004eby.2	-	3	2905	c.2288T>G	c.(2287-2289)GTT>GGT	p.V763G		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	763					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						CCCAGGAATAACTTCATTCTT	0.413													C	73962104	A	C	73962104	3	2	154	1	0	0	0	0	1	0	0	0	8269	43	2	5	2270	5	KIAA2022	23	73962104	Missense_Mutation	SNP	A	TCGA-CD-A487-01A-21D-A24D-08	2164	73962104	81308456	201	83186											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685428	125685428	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggactccagggtggcGgaggctctttcctccaggaa	15	10	1	1			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chrX:125685428G>A	uc004eul.2	-	1	1415	c.1164C>T	c.(1162-1164)TCC>TCT	p.S388S		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	388										skin(3)|ovary(1)	4						CCAGGGTGGCGGAGGCTCTTT	0.582													A	125685428	G	A	125685428	2	1	154	1	0	0	0	0	0	0	0	1	4264	1103	39	1		1	DCAF12L1	23	125685428	Silent	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	51723324	125685428	29585132	202	83187											
MAGEC3	139081	broad.mit.edu	37	chrX	140953339	140953339	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gaggctttttctgaggggtgGaacttcagatcagcgaatgg	15	6	3	2			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chrX:140953339G>C	uc011mwp.1	+	2	206	c.206G>C	c.(205-207)GGA>GCA	p.G69A		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	69										skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAGGGGTGGAACTTCAGAT	0.493													C	140953339	G	C	140953339	3	2	154	1	0	0	0	0	1	0	0	0	9182	1174	41	5	212	5	MAGEC3	23	140953339	Missense_Mutation	SNP	G	TCGA-CD-A487-01A-21D-A24D-08	15267911	140953339	14317221	203	83188											
PLEKHG5	57449	broad.mit.edu	37	chr1	6579534	6579534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacaaaggctgagccagcttCgaggtggagacccatgtttt	12	9	0	2			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr1:6579534C>T	uc001anp.1	-	1	536	c.38G>A	c.(37-39)CGA>CAA	p.R13Q	PLEKHG5_uc001anq.1_Missense_Mutation_p.R13Q	NM_198681	NP_941374	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	Error:Variant_position_missing_in_O94827_after_alignment					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GAGCCAGCTTCGAGGTGGAGA	0.532													T	6579534	C	T	6579534	3	4	155	1	0	0	0	0	1	0	0	0	12073	884	31	1	3309	1	PLEKHG5	1	6579534	Missense_Mutation	SNP	C	TCGA-CD-A489-01A-11D-A24D-08		6579534	242671087	1	83189											
NRAS	4893	broad.mit.edu	37	chr1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcactgtactcttcttGtccagctgtatccagtatgt	8	11	2	0	rs121913254		TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr1:115256530G>T	uc009wgu.2	-	3	435	c.181C>A	c.(181-183)CAA>AAA	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61	GTP.		Q -> K (in neuroblastoma cell).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(757)|p.Q61K(537)|p.Q61L(147)|p.Q61H(95)|p.Q61P(21)|p.Q61E(9)|p.Q61?(4)|p.Q61Q(3)|p.Q61_E62>HK(1)		haematopoietic_and_lymphoid_tissue(1008)|skin(956)|thyroid(334)|large_intestine(62)|NS(60)|soft_tissue(32)|lung(31)|upper_aerodigestive_tract(25)|urinary_tract(12)|liver(10)|adrenal_gland(9)|autonomic_ganglia(8)|testis(8)|central_nervous_system(8)|prostate(8)|breast(7)|biliary_tract(6)|ovary(6)|stomach(5)|pancreas(5)|endometrium(2)|kidney(2)|cervix(2)|eye(1)	2607	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(HT1080_SOFT_TISSUE)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(TYKNU_OVARY)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH2087_LUNG)|Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HS944T_SKIN)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(HS936T_SKIN)|Q61K(NCIH1299_LUNG)	50	Mis		melanoma|MM|AML|thyroid				Noonan_syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			T	115256530	G	T	115256530	3	4	155	1	0	0	0	0	1	0	0	0	10640	1386	48	5	400	5	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-CD-A489-01A-11D-A24D-08	108676996	115256530	133994091	2	83190											
HAO2	51179	broad.mit.edu	37	chr1	119929380	119929380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaagaggatgcagagttaGctgtgaagcacaatgtccag	12	7	0	3			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr1:119929380G>A	uc001ehq.1	+	6	1049	c.697G>A	c.(697-699)GCT>ACT	p.A233T	HAO2_uc001ehr.1_Missense_Mutation_p.A233T	NM_001005783	NP_001005783	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2	233	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			ovary(2)|skin(2)	4	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TGCAGAGTTAGCTGTGAAGCA	0.458													A	119929380	G	A	119929380	3	1	155	1	0	0	0	0	1	0	0	0	6952	971	34	2	711	2	HAO2	1	119929380	Missense_Mutation	SNP	G	TCGA-CD-A489-01A-11D-A24D-08	4672850	119929380	129321241	3	83191											
LINGO4	339398	broad.mit.edu	37	chr1	151774881	151774881	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggccatggaaggccccaggCtcaagggttgagagctggtt	16	9	1	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr1:151774881C>A	uc001ezf.1	-	2	490	c.300G>T	c.(298-300)GAG>GAT	p.E100D		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	100	Extracellular (Potential).|LRR 2.					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGCCCCAGGCTCAAGGGTTG	0.617													A	151774881	C	A	151774881	3	1	155	1	0	0	0	0	1	0	0	0	8817	796	28	5	1485	5	LINGO4	1	151774881	Missense_Mutation	SNP	C	TCGA-CD-A489-01A-11D-A24D-08	31845501	151774881	97475740	4	83192											
APOA1BP	128240	broad.mit.edu	37	chr1	156563272	156563272	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tcagcttcaagggcgatgttCgggaaccgttccacagcatc	11	12	2	0			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr1:156563272C>G	uc001fph.2	+	5	628	c.589C>G	c.(589-591)CGG>GGG	p.R197G	APOA1BP_uc001fpg.2_Missense_Mutation_p.R197G|APOA1BP_uc001fpi.2_Missense_Mutation_p.S178W|APOA1BP_uc001fpj.2_Missense_Mutation_p.R114G|APOA1BP_uc001fpk.2_Missense_Mutation_p.R94G|APOA1BP_uc010php.1_Missense_Mutation_p.R94G	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein precursor	197	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGCGATGTTCGGGAACCGTT	0.552													G	156563272	C	G	156563272	3	3	155	1	0	0	0	0	1	0	0	0	781	875	31	5	607	5	APOA1BP	1	156563272	Missense_Mutation	SNP	C	TCGA-CD-A489-01A-11D-A24D-08	4788391	156563272	92687349	5	83193											
KCNK2	3776	broad.mit.edu	37	chr1	215342582	215342582	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcacagaaggcggcaaaatAttctgtatcatctatgcctt	8	10	3	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr1:215342582A>C	uc001hkq.2	+	4	685	c.516A>C	c.(514-516)ATA>ATC	p.I172I	KCNK2_uc001hko.2_Silent_p.I168I|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Silent_p.I157I	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	172	Helical; (Potential).						outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GCGGCAAAATATTCTGTATCA	0.259													C	215342582	A	C	215342582	2	2	155	1	0	0	0	0	0	0	0	1	8066	439	16	5		5	KCNK2	1	215342582	Silent	SNP	A	TCGA-CD-A489-01A-11D-A24D-08	58779310	215342582	33908039	6	83194											
HHIPL2	79802	broad.mit.edu	37	chr1	222716993	222716993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataataaatatagaacttgCgattgtggcggaatttgggg	12	3	0	1	rs148477475	byFrequency	TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr1:222716993C>T	uc001hnh.1	-	2	918	c.860G>A	c.(859-861)CGC>CAC	p.R287H		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	287					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		ATAGAACTTGCGATTGTGGCG	0.478													T	222716993	C	T	222716993	3	4	155	1	0	0	0	0	1	0	0	0	7094	768	27	1	1346	1	HHIPL2	1	222716993	Missense_Mutation	SNP	C	TCGA-CD-A489-01A-11D-A24D-08	7374411	222716993	26533628	7	83195											
PCNXL2	80003	broad.mit.edu	37	chr1	233136105	233136105	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcatgatgaccttgtactcGtcggcaccctcgtccaccac	8	16	0	2			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr1:233136105G>C	uc001hvl.2	-	30	5509	c.5274C>G	c.(5272-5274)GAC>GAG	p.D1758E	PCNXL2_uc001hvk.1_Missense_Mutation_p.D410E|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1758						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				CCTTGTACTCGTCGGCACCCT	0.617													C	233136105	G	C	233136105	3	2	155	1	0	0	0	0	1	0	0	0	11592	1136	40	5	1159	5	PCNXL2	1	233136105	Missense_Mutation	SNP	G	TCGA-CD-A489-01A-11D-A24D-08	10419112	233136105	16114516	8	83196											
NRXN1	9378	broad.mit.edu	37	chr2	50724691	50724691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagctcacagtaatctatgtCgccatttttacacaggtcaa	6	10	3	0			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr2:50724691C>T	uc010fbq.2	-	14	4256	c.2779G>A	c.(2779-2781)GAC>AAC	p.D927N	NRXN1_uc002rxb.3_Missense_Mutation_p.D559N|NRXN1_uc002rxe.3_Missense_Mutation_p.D887N|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	250	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TAATCTATGTCGCCATTTTTA	0.438													T	50724691	C	T	50724691	3	4	155	1	0	0	0	0	1	0	0	0	10665	884	31	1	2167	1	NRXN1	2	50724691	Missense_Mutation	SNP	C	TCGA-CD-A489-01A-11D-A24D-08		50724691	192474682	9	83197											
CNTNAP5	129684	broad.mit.edu	37	chr2	125555790	125555790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttacacagattcagctccatCcaaggaaaacattgcactta	5	11	1	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr2:125555790C>T	uc002tno.2	+	19	3471	c.3107C>T	c.(3106-3108)TCC>TTC	p.S1036F	CNTNAP5_uc010flu.2_Missense_Mutation_p.S1037F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	1036	Extracellular (Potential).|Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCAGCTCCATCCAAGGAAAAC	0.453													T	125555790	C	T	125555790	3	4	155	1	0	0	0	0	1	0	0	0	3650	855	30	4	3181	4	CNTNAP5	2	125555790	Missense_Mutation	SNP	C	TCGA-CD-A489-01A-11D-A24D-08	74831099	125555790	117643583	10	83198											
LRP2	4036	broad.mit.edu	37	chr2	170063039	170063039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaagtgtaagcttctcaaGgaattagacaaggcaaagat	9	7	1	2			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr2:170063039G>A	uc002ues.2	-	39	7404	c.7191C>T	c.(7189-7191)TCC>TCT	p.S2397S		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2397	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGCTTCTCAAGGAATTAGACA	0.423													A	170063039	G	A	170063039	2	1	155	1	0	0	0	0	0	0	0	1	8956	987	35	4		4	LRP2	2	170063039	Silent	SNP	G	TCGA-CD-A489-01A-11D-A24D-08	44507249	170063039	73136334	11	83199											
AGPS	8540	broad.mit.edu	37	chr2	178364413	178364413	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagggggatcgtgagaaggTtcttcaacatgaaaaacaag	13	5	2	3			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr2:178364413T>C	uc002ull.2	+	14	1477	c.1430T>C	c.(1429-1431)GTT>GCT	p.V477A	AGPS_uc010zfb.1_Missense_Mutation_p.V387A	NM_003659	NP_003650	O00116	ADAS_HUMAN	alkyldihydroxyacetone phosphate synthase	477					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			ovary(2)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			CGTGAGAAGGTTCTTCAACAT	0.264													C	178364413	T	C	178364413	3	2	155	1	0	0	0	0	1	0	0	0	394	1725	60	3	1484	3	AGPS	2	178364413	Missense_Mutation	SNP	T	TCGA-CD-A489-01A-11D-A24D-08	8301374	178364413	64834960	12	83200											
TTN	7273	broad.mit.edu	37	chr2	179476671	179476671	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acctaacctttctttcttctCaatgacatatctattgaaac	2	11	4	2			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr2:179476671C>T	uc010zfg.1	-	217	42885	c.42661G>A	c.(42661-42663)GAG>AAG	p.E14221K	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E7916K|TTN_uc010zfi.1_Missense_Mutation_p.E7849K|TTN_uc010zfj.1_Missense_Mutation_p.E7724K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15148							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTCTTCTCAATGACATAT	0.363													T	179476671	C	T	179476671	3	4	155	1	0	0	0	0	1	0	0	0	16732	835	29	4	57708	4	TTN	2	179476671	Missense_Mutation	SNP	C	TCGA-CD-A489-01A-11D-A24D-08	1112258	179476671	63722702	13	83201											
ASNSD1	54529	broad.mit.edu	37	chr2	190532126	190532126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaagctgttagcccttcccGaatttggaattttgttgaaa	8	8	0	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr2:190532126G>A	uc002uqt.2	+	4	1702	c.1268G>A	c.(1267-1269)CGA>CAA	p.R423Q		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	423	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			AGCCCTTCCCGAATTTGGAAT	0.413													A	190532126	G	A	190532126	3	1	155	1	0	0	0	0	1	0	0	0	1049	1058	37	1	1270	1	ASNSD1	2	190532126	Missense_Mutation	SNP	G	TCGA-CD-A489-01A-11D-A24D-08	11055455	190532126	52667247	14	83202											
OBFC2A	64859	broad.mit.edu	37	chr2	192550460	192550460	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgatgaccacaataagtaAtggcagggaccctcggagag	13	8	0	3			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr2:192550460A>G	uc002usx.2	+	6	1061	c.581A>G	c.(580-582)AAT>AGT	p.N194S	OBFC2A_uc002usw.2_Missense_Mutation_p.N114S|OBFC2A_uc002usy.2_RNA|OBFC2A_uc002usz.2_RNA|OBFC2A_uc002uta.2_Missense_Mutation_p.N108S	NM_001031716	NP_001026886	Q96AH0	SOSB2_HUMAN	oligonucleotide/oligosaccharide-binding fold	194					double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	single-stranded DNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.061)|Epithelial(96;0.244)			ACAATAAGTAATGGCAGGGAC	0.413													G	192550460	A	G	192550460	3	3	155	1	0	0	0	0	1	0	0	0	10808	101	4	3	603	3	OBFC2A	2	192550460	Missense_Mutation	SNP	A	TCGA-CD-A489-01A-11D-A24D-08	2018334	192550460	50648913	15	83203											
COL6A3	1293	broad.mit.edu	37	chr2	238289897	238289897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgtgtacagggccgagcCgtccaggggcttcattttcc	13	14	1	0			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr2:238289897C>T	uc002vwl.2	-	5	1843	c.1558G>A	c.(1558-1560)GGC>AGC	p.G520S	COL6A3_uc002vwo.2_Missense_Mutation_p.G314S|COL6A3_uc010znj.1_Missense_Mutation_p.G113S|COL6A3_uc002vwq.2_Missense_Mutation_p.G314S|COL6A3_uc002vwr.2_Missense_Mutation_p.G113S|COL6A3_uc010znk.1_Missense_Mutation_p.G520S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	520	VWFA 3.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGGCCGAGCCGTCCAGGGGC	0.522													T	238289897	C	T	238289897	3	4	155	1	0	0	0	0	1	0	0	0	3701	652	23	1	8182	1	COL6A3	2	238289897	Missense_Mutation	SNP	C	TCGA-CD-A489-01A-11D-A24D-08	45739437	238289897	4909476	16	83204											
SCN11A	11280	broad.mit.edu	37	chr3	38912935	38912935	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacatactgactgtacttaCcacttgcagcagagcgaggt	9	10	0	2	rs149753298		TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr3:38912935C>T	uc011ays.1	-	21	3958	c.3759_splice	c.e21+1	p.V1253_splice		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha						response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ACTGTACTTACCACTTGCAGC	0.373													T	38912935	C	T	38912935	5	4	155	1	0	0	0	0	0	0	1	0	13913	521	18	4	1639	4	SCN11A	3	38912935	Splice_Site	SNP	C	TCGA-CD-A489-01A-11D-A24D-08		38912935	159109495	17	83205											
ZNF35	7584	broad.mit.edu	37	chr3	44694075	44694075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatatcctgggatatggcGgtagtcctgaaagcaactca	10	9	1	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr3:44694075G>A	uc003cnq.2	+	3	440	c.219G>A	c.(217-219)GCG>GCA	p.A73A	ZNF35_uc003cnr.2_Intron	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	73	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GGGATATGGCGGTAGTCCTGA	0.502													A	44694075	G	A	44694075	2	1	155	1	0	0	0	0	0	0	0	1	17859	1103	39	1		1	ZNF35	3	44694075	Silent	SNP	G	TCGA-CD-A489-01A-11D-A24D-08	5781140	44694075	153328355	18	83206											
TEX264	51368	broad.mit.edu	37	chr3	51733461	51733461	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctcggctggagatctacCaggaagaccagatccatttc	9	12	1	3			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr3:51733461C>T	uc010hls.2	+	5	689	c.520C>T	c.(520-522)CAG>TAG	p.Q174*	TEX264_uc003dbk.3_Nonsense_Mutation_p.Q174*|TEX264_uc010hlt.2_5'UTR|TEX264_uc003dbl.3_Nonsense_Mutation_p.Q174*|TEX264_uc003dbm.3_Nonsense_Mutation_p.Q213*	NM_001129884	NP_001123356	Q9Y6I9	TX264_HUMAN	testis expressed 264 precursor	174						extracellular region					0				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		GGAGATCTACCAGGAAGACCA	0.557													T	51733461	C	T	51733461	4	4	155	1	0	0	0	0	0	1	0	0	15780	595	21	4	530	4	TEX264	3	51733461	Nonsense_Mutation	SNP	C	TCGA-CD-A489-01A-11D-A24D-08	7039386	51733461	146288969	19	83207											
DNAH1	25981	broad.mit.edu	37	chr3	52395215	52395215	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccggagctctgcacctcaAgtttgggggtgccccagctg	14	13	2	0			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr3:52395215A>C	uc011bef.1	+	29	4982	c.4721A>C	c.(4720-4722)AAG>ACG	p.K1574T		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1574	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGCACCTCAAGTTTGGGGGT	0.607													C	52395215	A	C	52395215	3	2	155	1	0	0	0	0	1	0	0	0	4597	72	3	5	4831	5	DNAH1	3	52395215	Missense_Mutation	SNP	A	TCGA-CD-A489-01A-11D-A24D-08	661754	52395215	145627215	20	83208											
KIAA1524	57650	broad.mit.edu	37	chr3	108276170	108276170	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctcaatatcactctgcgctCtttctgattcaacttgctgc	6	13	6	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr3:108276170C>T	uc003dxb.3	-	17	2374	c.2105G>A	c.(2104-2106)AGA>AAA	p.R702K		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	702	Potential.					cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3						ACTCTGCGCTCTTTCTGATTC	0.398													T	108276170	C	T	108276170	3	4	155	1	0	0	0	0	1	0	0	0	8239	913	32	4	632	4	KIAA1524	3	108276170	Missense_Mutation	SNP	C	TCGA-CD-A489-01A-11D-A24D-08	55880955	108276170	89746260	21	83209											
KIAA1524	57650	broad.mit.edu	37	chr3	108298465	108298465	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggataatattgaaagtgcaAacacaaccacagttaaacta	6	7	0	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr3:108298465A>C	uc003dxb.3	-	6	889	c.620T>G	c.(619-621)TTT>TGT	p.F207C	KIAA1524_uc003dxc.1_Missense_Mutation_p.F48C|KIAA1524_uc010hpw.1_Missense_Mutation_p.F48C	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	207	Helical; (Potential).					cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3						TGAAAGTGCAAACACAACCAC	0.284													C	108298465	A	C	108298465	3	2	155	1	0	0	0	0	1	0	0	0	8239	14	1	5	2161	5	KIAA1524	3	108298465	Missense_Mutation	SNP	A	TCGA-CD-A489-01A-11D-A24D-08	22295	108298465	89723965	22	83210											
MRPL47	57129	broad.mit.edu	37	chr3	179319544	179319544	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtaaatcttcattactTttgttccttagttgctgaca	6	7	2	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr3:179319544T>G	uc003fjz.2	-	3	301	c.279A>C	c.(277-279)AAA>AAC	p.K93N	MRPL47_uc003fka.2_5'UTR|MRPL47_uc003fkb.2_Missense_Mutation_p.K73N	NM_020409	NP_065142	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47 isoform a	93					translation	mitochondrial ribosome	structural constituent of ribosome				0	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CTTCATTACTTTTGTTCCTTA	0.259													G	179319544	T	G	179319544	3	3	155	1	0	0	0	0	1	0	0	0	9811	1838	64	5	493	5	MRPL47	3	179319544	Missense_Mutation	SNP	T	TCGA-CD-A489-01A-11D-A24D-08	71021079	179319544	18702886	23	83211											
PEX5L	51555	broad.mit.edu	37	chr3	179576923	179576923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtaatgcgcttccccagCgatgttctttggtcagtcga	10	10	2	0			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr3:179576923C>T	uc003fki.1	-	8	879	c.749G>A	c.(748-750)CGC>CAC	p.R250H	PEX5L_uc011bqd.1_Missense_Mutation_p.R207H|PEX5L_uc011bqe.1_Missense_Mutation_p.R58H|PEX5L_uc011bqf.1_Missense_Mutation_p.R142H|PEX5L_uc003fkj.1_Missense_Mutation_p.R215H|PEX5L_uc010hxd.1_Missense_Mutation_p.R248H|PEX5L_uc011bqg.1_Missense_Mutation_p.R226H|PEX5L_uc011bqh.1_Missense_Mutation_p.R191H	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	250					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GCTTCCCCAGCGATGTTCTTT	0.358													T	179576923	C	T	179576923	3	4	155	1	0	0	0	0	1	0	0	0	11749	768	27	1	1163	1	PEX5L	3	179576923	Missense_Mutation	SNP	C	TCGA-CD-A489-01A-11D-A24D-08	257379	179576923	18445507	24	83212											
EPHB3	2049	broad.mit.edu	37	chr3	184298951	184298951	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcattgccagcgctcagtcTgggttagtacctctgcctct	10	13	5	0			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr3:184298951T>C	uc003foz.2	+	14	3167	c.2730T>C	c.(2728-2730)TCT>TCC	p.S910S		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	910	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCGCTCAGTCTGGGTTAGTAC	0.567													C	184298951	T	C	184298951	2	2	155	1	0	0	0	0	0	0	0	1	5176	1567	55	3		3	EPHB3	3	184298951	Silent	SNP	T	TCGA-CD-A489-01A-11D-A24D-08	4722028	184298951	13723479	25	83213											
TMPRSS11A	339967	broad.mit.edu	37	chr4	68810345	68810346	+	Frame_Shift_Ins	INS	-	-	T													aggagccatgatagtactccINStttttttggtctgcaatgga					rs139010197	byFrequency	TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr4:68810345_68810346insT	uc003hdr.1	-	3	264_265	c.143_144insA	c.(142-144)AAGfs	p.K48fs	LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Frame_Shift_Ins_p.K48fs	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A isoform 1	48	SEA.|Extracellular (Potential).				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			skin(1)	1						GATAGTACTCCTTTTTTTGGTC	0.342													T	68810346	-	T	68810345	7	5	155	1	0	1	1	0	0	0	0	0	16236	680	24	0	1153	0	TMPRSS11A	4	68810345	Frame_Shift_Ins	INS	-	TCGA-CD-A489-01A-11D-A24D-08		68810345	122343931	26	83214											
SPP1	6696	broad.mit.edu	37	chr4	88902651	88902651	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccaagtaagtccaacgaaAgccatgaccacatggatgat	8	10	0	2			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr4:88902651A>C	uc003hra.2	+	6	406	c.241A>C	c.(241-243)AGC>CGC	p.S81R	SPP1_uc003hrb.2_Missense_Mutation_p.S54R|SPP1_uc003hrc.2_Missense_Mutation_p.S67R|SPP1_uc011cde.1_Missense_Mutation_p.S94R|SPP1_uc003hrd.2_Missense_Mutation_p.S40R	NM_001040058	NP_001035147	P10451	OSTP_HUMAN	secreted phosphoprotein 1 isoform a	81					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			ovary(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		GTCCAACGAAAGCCATGACCA	0.408													C	88902651	A	C	88902651	3	2	155	1	0	0	0	0	1	0	0	0	15085	72	3	5	259	5	SPP1	4	88902651	Missense_Mutation	SNP	A	TCGA-CD-A489-01A-11D-A24D-08	20092306	88902651	102251625	27	83215											
GUCY1A3	2982	broad.mit.edu	37	chr4	156651353	156651353	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagatggcaatgccaaTtttttaggcaaagcatcagg	12	6	1	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr4:156651353T>A	uc003iov.2	+	11	2579	c.2043T>A	c.(2041-2043)AAT>AAA	p.N681K	GUCY1A3_uc003iow.2_Missense_Mutation_p.N681K|GUCY1A3_uc010iqd.2_Missense_Mutation_p.N680K|GUCY1A3_uc003iox.2_Missense_Mutation_p.N681K|GUCY1A3_uc003ioz.2_Missense_Mutation_p.N446K|GUCY1A3_uc003ioy.2_Missense_Mutation_p.N681K|GUCY1A3_uc010iqe.2_Missense_Mutation_p.N446K|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.N681K	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	681				GNANFLGKASGID -> ASQFFRQSIRNRLATYIPIYKSLG FDSLKMCRASESTLGIVDG (in Ref. 1; CAA47145).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GCAATGCCAATTTTTTAGGCA	0.398													A	156651353	T	A	156651353	3	1	155	1	0	0	0	0	1	0	0	0	6894	1490	52	5	2092	5	GUCY1A3	4	156651353	Missense_Mutation	SNP	T	TCGA-CD-A489-01A-11D-A24D-08	67748702	156651353	34502923	28	83216											
ADAMTS12	81792	broad.mit.edu	37	chr5	33643533	33643533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcagcgtccagcttagagcGacaaaagcccttcacggagc	11	13	1	1	rs143654915	byFrequency	TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr5:33643533G>A	uc003jia.1	-	10	1685	c.1522C>T	c.(1522-1524)CGC>TGC	p.R508C	ADAMTS12_uc010iuq.1_Missense_Mutation_p.R508C	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	508	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						AGCTTAGAGCGACAAAAGCCC	0.498										HNSCC(64;0.19)			A	33643533	G	A	33643533	3	1	155	1	0	0	0	0	1	0	0	0	257	1058	37	1	3322	1	ADAMTS12	5	33643533	Missense_Mutation	SNP	G	TCGA-CD-A489-01A-11D-A24D-08		33643533	147271727	29	83217											
LYSMD3	116068	broad.mit.edu	37	chr5	89814934	89814934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagtctgctccataatagGggtctttacgttgagtgttt	10	9	2	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr5:89814934G>A	uc003kjr.2	-	3	771	c.623C>T	c.(622-624)CCC>CTC	p.P208L	LYSMD3_uc010jaz.1_Intron|LYSMD3_uc003kjs.1_3'UTR	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain	208	Extracellular (Potential).				cell wall macromolecule catabolic process	integral to membrane					0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TCCATAATAGGGGTCTTTACG	0.388													A	89814934	G	A	89814934	3	1	155	1	0	0	0	0	1	0	0	0	9126	1232	43	4	301	4	LYSMD3	5	89814934	Missense_Mutation	SNP	G	TCGA-CD-A489-01A-11D-A24D-08	56171401	89814934	91100326	30	83218											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308286	140308286	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctaccacatctcccgggcGtctgactctagtctctttag	7	15	4	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr5:140308286G>A	uc003lih.2	+	1	1985	c.1809G>A	c.(1807-1809)GCG>GCA	p.A603A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Silent_p.A603A	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	603	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A603A(1)		skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCCGGGCGTCTGACTCTA	0.522													A	140308286	G	A	140308286	2	1	155	1	0	0	0	0	0	0	0	1	11532	1132	40	1		1	PCDHAC1	5	140308286	Silent	SNP	G	TCGA-CD-A489-01A-11D-A24D-08	50493352	140308286	40606974	31	83219											
CAMK2A	815	broad.mit.edu	37	chr5	149602668	149602668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgtgggatgccgccagcGtccaggtactgcgtgatgcg	17	11	0	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr5:149602668G>A	uc003lru.2	-	17	1532	c.1317C>T	c.(1315-1317)GAC>GAT	p.D439D	CAMK2A_uc003lrs.2_Silent_p.D150D|CAMK2A_uc003lrt.2_Silent_p.D450D	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II	439					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCGCCAGCGTCCAGGTACT	0.642													A	149602668	G	A	149602668	2	1	155	1	0	0	0	0	0	0	0	1	2599	1136	40	1		1	CAMK2A	5	149602668	Silent	SNP	G	TCGA-CD-A489-01A-11D-A24D-08	9294382	149602668	31312592	32	83220											
SLC26A8	116369	broad.mit.edu	37	chr6	35923217	35923217	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtttggcttgtgttcatgctCtcaaaatgtgagcagtgaat	11	6	2	2			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr6:35923217C>T	uc003olm.2	-	17	2055	c.1944G>A	c.(1942-1944)GAG>GAA	p.E648E	SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Silent_p.E230E|SLC26A8_uc003oln.2_Silent_p.E648E|SLC26A8_uc003oll.2_Silent_p.E543E	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	648	STAS.|Cytoplasmic (Potential).				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			ovary(2)	2						TGTTCATGCTCTCAAAATGTG	0.458													T	35923217	C	T	35923217	2	4	155	1	0	0	0	0	0	0	0	1	14523	912	32	4		4	SLC26A8	6	35923217	Silent	SNP	C	TCGA-CD-A489-01A-11D-A24D-08		35923217	135191850	33	83221											
TSPO2	222642	broad.mit.edu	37	chr6	41010893	41010893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacagccatctactctgtcGtggggtgagtacttgtttct	11	9	3	2			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr6:41010893G>A	uc003opj.2	+	2	470	c.169G>A	c.(169-171)GTG>ATG	p.V57M	UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.2_Silent_p.S66S|TSPO2_uc011dub.1_Missense_Mutation_p.V57M	NM_001010873	NP_001010873	Q5TGU0	TSPO2_HUMAN	benzodiazapine receptor (peripheral)-like 1	57	Helical; (Potential).				transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity				0						CTACTCTGTCGTGGGGTGAGT	0.498													A	41010893	G	A	41010893	3	1	155	1	0	0	0	0	1	0	0	0	16653	1145	40	1	171	1	TSPO2	6	41010893	Missense_Mutation	SNP	G	TCGA-CD-A489-01A-11D-A24D-08	5087676	41010893	130104174	34	83222											
KHDRBS2	202559	broad.mit.edu	37	chr6	62604706	62604706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagaacacctcgtccaggtGgtgggggaggaggaatggca	18	7	0	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr6:62604706G>A	uc003peg.2	-	6	891	c.644C>T	c.(643-645)CCA>CTA	p.P215L		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCGTCCAGGTGGTGGGGGAGG	0.572													A	62604706	G	A	62604706	3	1	155	1	0	0	0	0	1	0	0	0	8147	1348	47	4	421	4	KHDRBS2	6	62604706	Missense_Mutation	SNP	G	TCGA-CD-A489-01A-11D-A24D-08	21593813	62604706	108510361	35	83223											
REV3L	5980	broad.mit.edu	37	chr6	111697854	111697854	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcttagcagaagatgagggTtctaatgtagcagcatcttt	10	6	3	3			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr6:111697854T>A	uc003puy.3	-	13	2027	c.1704A>T	c.(1702-1704)GAA>GAT	p.E568D	REV3L_uc003pux.3_Missense_Mutation_p.E490D|REV3L_uc003puz.3_Missense_Mutation_p.E490D	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	568					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAGATGAGGGTTCTAATGTAG	0.378								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	111697854	T	A	111697854	3	1	155	1	0	0	0	0	1	0	0	0	13240	1722	60	5	7768	5	REV3L	6	111697854	Missense_Mutation	SNP	T	TCGA-CD-A489-01A-11D-A24D-08	49093148	111697854	59417213	36	83224											
GRM1	2911	broad.mit.edu	37	chr6	146351241	146351241	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcgacctgagtgacaaaacTttgtacaaatacttcctgag	7	9	0	3			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr6:146351241T>G	uc010khw.1	+	2	1058	c.588T>G	c.(586-588)ACT>ACG	p.T196T	GRM1_uc010khu.1_Silent_p.T196T|GRM1_uc010khv.1_Silent_p.T196T|GRM1_uc003qll.2_Silent_p.T196T|GRM1_uc011edz.1_Silent_p.T196T|GRM1_uc011eea.1_Silent_p.T196T	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	196	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GTGACAAAACTTTGTACAAAT	0.493													G	146351241	T	G	146351241	2	3	155	1	0	0	0	0	0	0	0	1	6796	1596	56	5		5	GRM1	6	146351241	Silent	SNP	T	TCGA-CD-A489-01A-11D-A24D-08	34653387	146351241	24763826	37	83225											
IQCE	23288	broad.mit.edu	37	chr7	2617908	2617908	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagaagagcgacgtggacctGatgagaacgaagctccggcg	15	10	0	4			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr7:2617908G>A	uc003smo.3	+	7	682	c.498G>A	c.(496-498)CTG>CTA	p.L166L	IQCE_uc010ksm.1_Silent_p.L166L|IQCE_uc003sml.1_Silent_p.L166L|IQCE_uc011jvy.1_Silent_p.L150L|IQCE_uc011jvz.1_Silent_p.L101L|IQCE_uc003smk.3_Silent_p.L150L|IQCE_uc003smn.3_Silent_p.L101L	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	IQ motif containing E isoform 1	166	Potential.										0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		ACGTGGACCTGATGAGAACGA	0.507													A	2617908	G	A	2617908	2	1	155	1	0	0	0	0	0	0	0	1	7806	1277	45	4		4	IQCE	7	2617908	Silent	SNP	G	TCGA-CD-A489-01A-11D-A24D-08		2617908	156520755	38	83226											
ELMO1	9844	broad.mit.edu	37	chr7	37298854	37298854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttataaactcctgggcaaaCgtgacatcccgggagaggct	11	10	0	2			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr7:37298854C>T	uc003tfk.1	-	6	652	c.345G>A	c.(343-345)ACG>ACA	p.T115T	ELMO1_uc011kbc.1_Silent_p.T19T|ELMO1_uc010kxg.1_Silent_p.T115T	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	115					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						CCTGGGCAAACGTGACATCCC	0.547													T	37298854	C	T	37298854	2	4	155	1	0	0	0	0	0	0	0	1	5065	523	19	1		1	ELMO1	7	37298854	Silent	SNP	C	TCGA-CD-A489-01A-11D-A24D-08	34680946	37298854	121839809	39	83227											
SSPO	23145	broad.mit.edu	37	chr7	149489758	149489758	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtccttccggagctccaaCaacccccgcccctccggccg	9	21	0	0			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr7:149489758C>T	uc010lpk.2	+	39	5814	c.5814C>T	c.(5812-5814)AAC>AAT	p.N1938N		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1938	TSP type-1 3.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAGCTCCAACAACCCCCGCC	0.687													T	149489758	C	T	149489758	2	4	155	1	0	0	0	0	0	0	0	1	15188	477	17	4		4	SSPO	7	149489758	Silent	SNP	C	TCGA-CD-A489-01A-11D-A24D-08	112190904	149489758	9648905	40	83228											
MSR1	4481	broad.mit.edu	37	chr8	16021613	16021613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctcaaggtctgagaatgttCccaatctttcagtctgagat	8	9	5	2			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr8:16021613C>T	uc003wwz.2	-	5	976	c.778G>A	c.(778-780)GAA>AAA	p.E260K	MSR1_uc010lsu.2_Missense_Mutation_p.E278K|MSR1_uc003wxa.2_Missense_Mutation_p.E260K|MSR1_uc003wxb.2_Missense_Mutation_p.E260K|MSR1_uc011kxz.1_Missense_Mutation_p.E34K	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	260	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)		TGAGAATGTTCCCAATCTTTC	0.313													T	16021613	C	T	16021613	3	4	155	1	0	0	0	0	1	0	0	0	9886	864	30	4	649	4	MSR1	8	16021613	Missense_Mutation	SNP	C	TCGA-CD-A489-01A-11D-A24D-08		16021613	130342409	41	83229											
ADAM18	8749	broad.mit.edu	37	chr8	39581392	39581392	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaagaaatgaaataagtAaatcatgtaacagagagaat	7	2	1	4			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr8:39581392A>G	uc003xni.2	+	19	2143	c.2143A>G	c.(2143-2145)AAA>GAA	p.K715E	ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.K691E	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	715	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TGAAATAAGTAAATCATGTAA	0.313													G	39581392	A	G	39581392	3	3	155	1	0	0	0	0	1	0	0	0	239	363	13	3	2217	3	ADAM18	8	39581392	Missense_Mutation	SNP	A	TCGA-CD-A489-01A-11D-A24D-08	23559779	39581392	106782630	42	83230											
CHRNB3	1142	broad.mit.edu	37	chr8	42586889	42586889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgtctggacccctcccGccagctacaaaagctcctgc	8	17	1	0			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr8:42586889G>A	uc003xpi.1	+	5	567	c.439G>A	c.(439-441)GCC>ACC	p.A147T		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	147	Extracellular (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GACCCCTCCCGCCAGCTACAA	0.527													A	42586889	G	A	42586889	3	1	155	1	0	0	0	0	1	0	0	0	3392	1087	38	1	457	1	CHRNB3	8	42586889	Missense_Mutation	SNP	G	TCGA-CD-A489-01A-11D-A24D-08	3005497	42586889	103777133	43	83231											
PREX2	80243	broad.mit.edu	37	chr8	69011999	69011999	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctaaatgaagtgattcctaCtgaccttcagagtaaattca	6	8	3	4			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr8:69011999C>A	uc003xxv.1	+	23	2663	c.2636C>A	c.(2635-2637)ACT>AAT	p.T879N	PREX2_uc003xxu.1_Missense_Mutation_p.T879N|PREX2_uc011lez.1_Missense_Mutation_p.T814N	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	879					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GTGATTCCTACTGACCTTCAG	0.343													A	69011999	C	A	69011999	3	1	155	1	0	0	0	0	1	0	0	0	12477	565	20	5	2726	5	PREX2	8	69011999	Missense_Mutation	SNP	C	TCGA-CD-A489-01A-11D-A24D-08	26425110	69011999	77352023	44	83232											
SMARCA2	6595	broad.mit.edu	37	chr9	2084121	2084121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcgctcccttgtcccccaGctacggagtggcaaattcaa	9	15	1	0			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr9:2084121G>A	uc003zhc.2	+	17	2550	c.2451G>A	c.(2449-2451)CAG>CAA	p.Q817Q	SMARCA2_uc003zhd.2_Silent_p.Q817Q|SMARCA2_uc010mha.2_Silent_p.Q808Q	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	817	Helicase ATP-binding.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TTGTCCCCCAGCTACGGAGTG	0.368													A	2084121	G	A	2084121	2	1	155	1	0	0	0	0	0	0	0	1	14769	962	34	2		2	SMARCA2	9	2084121	Silent	SNP	G	TCGA-CD-A489-01A-11D-A24D-08		2084121	139129310	45	83233											
CDKN2A	1029	broad.mit.edu	37	chr9	21974695	21974695	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctggatcggcctccgaccGtaactattcggtgcgttggg	13	12	0	0			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr9:21974695G>T	uc003zpk.2	-	1	344	c.132C>A	c.(130-132)TAC>TAA	p.Y44*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Nonsense_Mutation_p.Y44*|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	44	ANK 2.				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(25)|p.Y44*(3)|p.Y44fs*1(1)|p.Y44fs*76(1)|p.V28_V51del(1)|p.G45del(1)|p.Y44S(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCTCCGACCGTAACTATTCG	0.682		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			T	21974695	G	T	21974695	4	4	155	1	0	0	0	0	0	1	0	0	3161	1140	40	5	551	5	CDKN2A	9	21974695	Nonsense_Mutation	SNP	G	TCGA-CD-A489-01A-11D-A24D-08	19890574	21974695	119238736	46	83234											
NOL6	65083	broad.mit.edu	37	chr9	33469046	33469046	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcagaatggttgacagcagCtgcaaatgggactcgagaac	12	9	1	3			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr9:33469046C>A	uc003zsz.2	-	7	1037	c.936G>T	c.(934-936)CAG>CAT	p.Q312H	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zta.2_Missense_Mutation_p.Q312H|NOL6_uc010mjv.2_Missense_Mutation_p.Q312H|NOL6_uc011lob.1_Missense_Mutation_p.Q252H|NOL6_uc003ztb.1_Missense_Mutation_p.Q312H	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	312					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TTGACAGCAGCTGCAAATGGG	0.577													A	33469046	C	A	33469046	3	1	155	1	0	0	0	0	1	0	0	0	10525	796	28	5	2584	5	NOL6	9	33469046	Missense_Mutation	SNP	C	TCGA-CD-A489-01A-11D-A24D-08	11494351	33469046	107744385	47	83235											
TMEM2	23670	broad.mit.edu	37	chr9	74315723	74315723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgatggatagcaaaggccaActcgaatccagtcattcctt	8	10	1	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr9:74315723A>G	uc011lsa.1	-	19	3752	c.3212T>C	c.(3211-3213)GTT>GCT	p.V1071A	TMEM2_uc011lrz.1_Missense_Mutation_p.V64A|TMEM2_uc010mos.2_Missense_Mutation_p.V1008A|TMEM2_uc011lsb.1_RNA|TMEM2_uc004aik.2_5'Flank	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	1071						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GCAAAGGCCAACTCGAATCCA	0.378													G	74315723	A	G	74315723	3	3	155	1	0	0	0	0	1	0	0	0	16118	43	2	3	963	3	TMEM2	9	74315723	Missense_Mutation	SNP	A	TCGA-CD-A489-01A-11D-A24D-08	40846677	74315723	66897708	48	83236											
BAAT	570	broad.mit.edu	37	chr9	104124855	104124855	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtcgttgaggcacagcacAgaggagaatagggaggttct	17	6	1	3			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr9:104124855A>G	uc010mtd.2	-	4	1221	c.1112T>C	c.(1111-1113)CTG>CCG	p.L371P	BAAT_uc004bbd.3_Missense_Mutation_p.L371P	NM_001127610	NP_001121082	Q14032	BAAT_HUMAN	bile acid Coenzyme A: amino acid	371					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			ovary(1)|lung(1)|skin(1)	3		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GGCACAGCACAGAGGAGAATA	0.542													G	104124855	A	G	104124855	3	3	155	1	0	0	0	0	1	0	0	0	1280	188	7	3	148	3	BAAT	9	104124855	Missense_Mutation	SNP	A	TCGA-CD-A489-01A-11D-A24D-08	29809132	104124855	37088576	49	83237											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123201972	123201972	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccacacaaaactgtaattaTggcctcactgcactgggagt	8	12	1	0			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr9:123201972T>C	uc004bkf.2	-	24	3608	c.3427A>G	c.(3427-3429)ATA>GTA	p.I1143V	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.I152V|CDK5RAP2_uc004bke.2_Missense_Mutation_p.I428V|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.I1143V|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.I408V|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.I408V|CDK5RAP2_uc011lya.1_Missense_Mutation_p.I408V|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.I913V|CDK5RAP2_uc004bki.2_Missense_Mutation_p.I910V	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1143	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						ACTGTAATTATGGCCTCACTG	0.443											OREG0019438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	123201972	T	C	123201972	3	2	155	1	0	0	0	0	1	0	0	0	3146	1464	51	3	2314	3	CDK5RAP2	9	123201972	Missense_Mutation	SNP	T	TCGA-CD-A489-01A-11D-A24D-08	19077117	123201972	18011459	50	83238											
ZER1	10444	broad.mit.edu	37	chr9	131502299	131502299	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcctcacgctggggctcacaGacgccccaggcctcgggtcc	12	18	2	1	rs35240402		TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr9:131502299G>A	uc004bwa.1	-	13	2386	c.1953C>T	c.(1951-1953)GTC>GTT	p.V651V		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	651					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						GGGGCTCACAGACGCCCCAGG	0.587													A	131502299	G	A	131502299	2	1	155	1	0	0	0	0	0	0	0	1	17622	929	33	4		4	ZER1	9	131502299	Silent	SNP	G	TCGA-CD-A489-01A-11D-A24D-08	8300327	131502299	9711132	51	83239											
VIM	7431	broad.mit.edu	37	chr10	17276693	17276693	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgttttcttcccaacagtTtgctgacctctctgaggctg	8	12	3	2			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr10:17276693T>C	uc001iou.2	+	6	1297	c.884T>C	c.(883-885)TTT>TCT	p.F295S	VIM_uc001iov.1_Missense_Mutation_p.F295S|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.F295S|VIM_uc001ioy.1_Missense_Mutation_p.F295S|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Intron|VIM_uc001ipc.1_Missense_Mutation_p.F295S	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	295	Rod.|Coil 2.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TCCCAACAGTTTGCTGACCTC	0.463													C	17276693	T	C	17276693	3	2	155	1	0	0	0	0	1	0	0	0	17163	1855	64	3	902	3	VIM	10	17276693	Missense_Mutation	SNP	T	TCGA-CD-A489-01A-11D-A24D-08		17276693	118258054	52	83240											
KIAA1462	57608	broad.mit.edu	37	chr10	30317329	30317329	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgatttcactgggatagaaAccaagcaaaatatagtctcg	8	8	2	2			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr10:30317329A>T	uc001iux.2	-	2	1807	c.1748T>A	c.(1747-1749)GTT>GAT	p.V583D	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.V445D|KIAA1462_uc009xle.1_Missense_Mutation_p.V583D	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	583										ovary(4)	4						TGGGATAGAAACCAAGCAAAA	0.403													T	30317329	A	T	30317329	3	4	155	1	0	0	0	0	1	0	0	0	8234	43	2	5	2339	5	KIAA1462	10	30317329	Missense_Mutation	SNP	A	TCGA-CD-A489-01A-11D-A24D-08	13040636	30317329	105217418	53	83241											
ZNF503	84858	broad.mit.edu	37	chr10	77159095	77159095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagccggatcatgtgcGcaagaagcgctggcggccgc	16	13	1	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr10:77159095G>A	uc001jxg.2	-	2	1689	c.1353C>T	c.(1351-1353)TGC>TGT	p.C451C	C10orf41_uc010qlf.1_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	zinc finger protein 503	451	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GATCATGTGCGCAAGAAGCGC	0.687													A	77159095	G	A	77159095	2	1	155	1	0	0	0	0	0	0	0	1	17948	1079	38	1		1	ZNF503	10	77159095	Silent	SNP	G	TCGA-CD-A489-01A-11D-A24D-08	46841766	77159095	58375652	54	83242											
CNNM1	26507	broad.mit.edu	37	chr10	101124187	101124187	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccagggtaaagtggaggTggaggttggtaaggaaggcc	18	4	0	0			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr10:101124187T>G	uc001kpp.3	+	5	2331	c.2042T>G	c.(2041-2043)GTG>GGG	p.V681G	CNNM1_uc009xwe.2_Missense_Mutation_p.V681G|CNNM1_uc010qpi.1_Missense_Mutation_p.V681G|CNNM1_uc009xwf.2_Missense_Mutation_p.V681G|CNNM1_uc009xwg.2_Missense_Mutation_p.V81G	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	681					ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		AAAGTGGAGGTGGAGGTTGGT	0.433													G	101124187	T	G	101124187	3	3	155	1	0	0	0	0	1	0	0	0	3612	1696	59	5	2060	5	CNNM1	10	101124187	Missense_Mutation	SNP	T	TCGA-CD-A489-01A-11D-A24D-08	23965092	101124187	34410560	55	83243											
DNMBP	23268	broad.mit.edu	37	chr10	101715527	101715527	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtaaaattttatctggctcTgtgccgggccctgccaagct	10	12	2	0			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr10:101715527T>A	uc001kqj.2	-	4	1796	c.1704A>T	c.(1702-1704)ACA>ACT	p.T568T	NCRNA00093_uc001kqk.1_RNA	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	568					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TATCTGGCTCTGTGCCGGGCC	0.498													A	101715527	T	A	101715527	2	1	155	1	0	0	0	0	0	0	0	1	4674	1567	55	5		5	DNMBP	10	101715527	Silent	SNP	T	TCGA-CD-A489-01A-11D-A24D-08	591340	101715527	33819220	56	83244											
MUC6	4588	broad.mit.edu	37	chr11	1016369	1016369	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggagtgggaggagggcacAtaagaagaaacagtagaggg	19	3	0	3			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr11:1016369A>G	uc001lsw.2	-	31	6483	c.6432T>C	c.(6430-6432)TAT>TAC	p.Y2144Y		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	2144	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGAGGGCACATAAGAAGAAA	0.552													G	1016369	A	G	1016369	2	3	155	1	0	0	0	0	0	0	0	1	9980	224	8	3		3	MUC6	11	1016369	Silent	SNP	A	TCGA-CD-A489-01A-11D-A24D-08		1016369	133990147	57	83245											
TNNI2	7136	broad.mit.edu	37	chr11	1862404	1862404	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcatggacctgagggccaaCctgaagcaggtcaagaagga	14	9	1	3			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr11:1862404C>G	uc010qxe.1	+	5	442	c.420C>G	c.(418-420)AAC>AAG	p.N140K	TNNI2_uc010qxc.1_Missense_Mutation_p.N138K|TNNI2_uc010qxd.1_Missense_Mutation_p.N138K	NM_001145841	NP_001139313	P48788	TNNI2_HUMAN	fast-twitch skeletal muscle troponin I isoform	140					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding				0		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGAGGGCCAACCTGAAGCAGG	0.662													G	1862404	C	G	1862404	3	3	155	1	0	0	0	0	1	0	0	0	16324	506	18	5	457	5	TNNI2	11	1862404	Missense_Mutation	SNP	C	TCGA-CD-A489-01A-11D-A24D-08	846035	1862404	133144112	58	83246											
LDHC	3948	broad.mit.edu	37	chr11	18456456	18456456	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attggagaacatggtgattcTagtggtaagtataaatctat	10	3	2	2			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr11:18456456T>G	uc001mon.3	+	5	700	c.588T>G	c.(586-588)TCT>TCG	p.S196S	LDHC_uc001mom.3_Silent_p.S196S|LDHC_uc009yhp.2_Silent_p.S196S|LDHC_uc001moo.3_Silent_p.S80S|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_Silent_p.S80S	NM_017448	NP_059144	P07864	LDHC_HUMAN	L-lactate dehydrogenase C	196					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity				0					NADH(DB00157)	ATGGTGATTCTAGtggtaagt	0.239													G	18456456	T	G	18456456	2	3	155	1	0	0	0	0	0	0	0	1	8702	1509	53	5		5	LDHC	11	18456456	Silent	SNP	T	TCGA-CD-A489-01A-11D-A24D-08	16594052	18456456	116550060	59	83247											
OR5T3	390154	broad.mit.edu	37	chr11	56020031	56020031	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaatttcctggcaaaaaAtaaatccatttcatttatcg	5	8	2	0			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr11:56020031A>T	uc010rjd.1	+	1	356	c.356A>T	c.(355-357)AAT>ATT	p.N119I		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	119	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					CTGGCAAAAAATAAATCCATT	0.353													T	56020031	A	T	56020031	3	4	155	1	0	0	0	0	1	0	0	0	11183	101	4	5	358	5	OR5T3	11	56020031	Missense_Mutation	SNP	A	TCGA-CD-A489-01A-11D-A24D-08	37563575	56020031	78986485	60	83248											
TMEM216	51259	broad.mit.edu	37	chr11	61161357	61161357	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttttgtattggcaggTgtcctgctaccatatccaac	9	11	0	0			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr11:61161357T>G	uc010rlj.1	+	3	410	c.117T>G	c.(115-117)GGT>GGG	p.G39G	TMEM216_uc001nrn.1_5'UTR	NM_016499	NP_057583	Q9P0N5	TM216_HUMAN	transmembrane protein 216	39						integral to membrane					0						TATTGGCAGGTGTCCTGCTAC	0.438													G	61161357	T	G	61161357	2	3	155	1	0	0	0	0	0	0	0	1	16136	1710	59	5		5	TMEM216	11	61161357	Silent	SNP	T	TCGA-CD-A489-01A-11D-A24D-08	5141326	61161357	73845159	61	83249											
CDC42BPG	55561	broad.mit.edu	37	chr11	64603960	64603960	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacctgggctaccagctgggGgcccatccgtctgggacaat	14	13	1	0			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr11:64603960G>T	uc001obs.3	-	12	1427	c.1427C>A	c.(1426-1428)CCC>CAC	p.P476H		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	476	Potential.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						ACCAGCTGGGGGCCCATCCGT	0.507											OREG0004017	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	64603960	G	T	64603960	3	4	155	1	0	0	0	0	1	0	0	0	3074	1232	43	5	3332	5	CDC42BPG	11	64603960	Missense_Mutation	SNP	G	TCGA-CD-A489-01A-11D-A24D-08	3442603	64603960	70402556	62	83250											
BIRC3	330	broad.mit.edu	37	chr11	102196232	102196232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaatgcttttgctgtgatGgtggactcaggtgttgggaa	14	5	2	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr11:102196232G>A	uc001pgx.2	+	4	1111	c.889G>A	c.(889-891)GGT>AGT	p.G297S		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	baculoviral IAP repeat-containing protein 3	297	BIR 3.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.G297D(1)		ovary(3)|skin(1)	4	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TTGCTGTGATGGTGGACTCAG	0.348			T	MALT1	MALT								A	102196232	G	A	102196232	3	1	155	1	0	0	0	0	1	0	0	0	1436	1348	47	4	895	4	BIRC3	11	102196232	Missense_Mutation	SNP	G	TCGA-CD-A489-01A-11D-A24D-08	37592272	102196232	32810284	63	83251											
MMP8	4317	broad.mit.edu	37	chr11	102593235	102593235	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccactgtcaggcactccaCagcgaggctttttcatcatg	8	14	3	0			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr11:102593235C>A	uc001phe.2	-	2	371	c.272G>T	c.(271-273)TGT>TTT	p.C91F	MMP8_uc010rut.1_Missense_Mutation_p.C26F|MMP8_uc010ruu.1_Missense_Mutation_p.C68F	NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	91	Cysteine switch (By similarity).	Zinc 2; in inhibited form.			collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		AGGCACTCCACAGCGAGGCTT	0.458													A	102593235	C	A	102593235	3	1	155	1	0	0	0	0	1	0	0	0	9668	478	17	5	1167	5	MMP8	11	102593235	Missense_Mutation	SNP	C	TCGA-CD-A489-01A-11D-A24D-08	397003	102593235	32413281	64	83252											
KIRREL3	84623	broad.mit.edu	37	chr11	126294762	126294762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtagaggcggccctggcCgctcagggtgctgtagatgt	17	10	1	2			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr11:126294762C>T	uc001qea.2	-	17	2411	c.2050G>A	c.(2050-2052)GGC>AGC	p.G684S	KIRREL3_uc001qeb.2_Missense_Mutation_p.G672S|ST3GAL4_uc001qdx.1_Intron	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	684	Cytoplasmic (Potential).				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CGGCCCTGGCCGCTCAGGGTG	0.647													T	126294762	C	T	126294762	3	4	155	1	0	0	0	0	1	0	0	0	8326	652	23	1	290	1	KIRREL3	11	126294762	Missense_Mutation	SNP	C	TCGA-CD-A489-01A-11D-A24D-08	23701527	126294762	8711754	65	83253											
CAPRIN2	65981	broad.mit.edu	37	chr12	30887968	30887968	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaggtagtcaagttcttttGaaggcaaatacactgcacca	9	8	2	2			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr12:30887968G>A	uc001rji.1	-	4	1494	c.743C>T	c.(742-744)TCA>TTA	p.S248L	CAPRIN2_uc001rjf.1_Missense_Mutation_p.S45L|CAPRIN2_uc001rjg.1_5'UTR|CAPRIN2_uc001rjh.1_Missense_Mutation_p.S248L|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjk.3_Missense_Mutation_p.S248L|CAPRIN2_uc001rjl.3_Missense_Mutation_p.S248L	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	248					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)					AAGTTCTTTTGAAGGCAAATA	0.378													A	30887968	G	A	30887968	3	1	155	1	0	0	0	0	1	0	0	0	2636	1294	45	4	2700	4	CAPRIN2	12	30887968	Missense_Mutation	SNP	G	TCGA-CD-A489-01A-11D-A24D-08		30887968	102963927	66	83254											
AMIGO2	347902	broad.mit.edu	37	chr12	47471346	47471346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagagcctgactttcccGttctgccctgctgcagtatc	10	13	1	2			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr12:47471346G>A	uc001rpm.2	-	3	2095	c.1440C>T	c.(1438-1440)AAC>AAT	p.N480N	FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Silent_p.N480N|AMIGO2_uc001rpl.2_Silent_p.N480N	NM_001143668	NP_001137140	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	480	Cytoplasmic (Potential).				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				ovary(1)|skin(1)	2	Renal(347;0.138)|Lung SC(27;0.192)					TGACTTTCCCGTTCTGCCCTG	0.532													A	47471346	G	A	47471346	2	1	155	1	0	0	0	0	0	0	0	1	576	1136	40	1		1	AMIGO2	12	47471346	Silent	SNP	G	TCGA-CD-A489-01A-11D-A24D-08	16583378	47471346	86380549	67	83255											
GEFT	115557	broad.mit.edu	37	chr12	58006728	58006728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attagaatcctattccattgCgggcagtgaggggagtatat	12	6	0	2			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr12:58006728C>T	uc001spb.2	+	2	573	c.113C>T	c.(112-114)GCG>GTG	p.A38V	GEFT_uc009zpy.2_Missense_Mutation_p.A77V|GEFT_uc001soz.1_Intron|GEFT_uc001spa.2_Intron|uc001spc.2_RNA|GEFT_uc001spd.2_5'Flank	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	RhoA/RAC/CDC42 exchange factor isoform 1	38					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity				0	Melanoma(17;0.122)					TATTCCATTGCGGGCAGTGAG	0.493													T	58006728	C	T	58006728	3	4	155	1	0	0	0	0	1	0	0	0	6328	768	27	1	341	1	GEFT	12	58006728	Missense_Mutation	SNP	C	TCGA-CD-A489-01A-11D-A24D-08	10535382	58006728	75845167	68	83256											
MYBPC1	4604	broad.mit.edu	37	chr12	102069076	102069076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattcatcctgtagaccgtcCaggtccaccccaaattgtga	7	13	1	2			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr12:102069076C>T	uc001tii.2	+	25	2897	c.2795C>T	c.(2794-2796)CCA>CTA	p.P932L	MYBPC1_uc001tig.2_Missense_Mutation_p.P939L|MYBPC1_uc010svq.1_Missense_Mutation_p.P901L|MYBPC1_uc001tih.2_Missense_Mutation_p.P939L|MYBPC1_uc001tij.2_Missense_Mutation_p.P914L|MYBPC1_uc010svr.1_Missense_Mutation_p.P914L|MYBPC1_uc010svs.1_Missense_Mutation_p.P932L|MYBPC1_uc010svt.1_Missense_Mutation_p.P902L|MYBPC1_uc010svu.1_Missense_Mutation_p.P895L|MYBPC1_uc001tik.2_Missense_Mutation_p.P888L|MYBPC1_uc001til.2_5'UTR|MYBPC1_uc001tim.2_5'UTR	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	932	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						GTAGACCGTCCAGGTCCACCC	0.453													T	102069076	C	T	102069076	3	4	155	1	0	0	0	0	1	0	0	0	10011	594	21	4	2976	4	MYBPC1	12	102069076	Missense_Mutation	SNP	C	TCGA-CD-A489-01A-11D-A24D-08	44062348	102069076	31782819	69	83257											
SOHLH2	54937	broad.mit.edu	37	chr13	36776025	36776025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagtttacctaattaacTtgatggcttccagctcctcg	7	10	0	2			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr13:36776025T>C	uc001uvj.2	-	2	343	c.254A>G	c.(253-255)AAG>AGG	p.K85R	SOHLH2_uc010tei.1_Missense_Mutation_p.K162R	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	85					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CCTAATTAACTTGATGGCTTC	0.368													C	36776025	T	C	36776025	3	2	155	1	0	0	0	0	1	0	0	0	14924	1609	56	3	1063	3	SOHLH2	13	36776025	Missense_Mutation	SNP	T	TCGA-CD-A489-01A-11D-A24D-08		36776025	78393853	70	83258											
OR11H12	440153	broad.mit.edu	37	chr14	19377832	19377832	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgtacatgttcctgggaaAtttctcctttttagagatat	7	7	1	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr14:19377832A>G	uc010tkp.1	+	1	239	c.239A>G	c.(238-240)AAT>AGT	p.N80S		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H,	80	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCCTGGGAAATTTCTCCTTT	0.413													G	19377832	A	G	19377832	3	3	155	1	0	0	0	0	1	0	0	0	10927	101	4	3	241	3	OR11H12	14	19377832	Missense_Mutation	SNP	A	TCGA-CD-A489-01A-11D-A24D-08		19377832	87971708	71	83259											
ADCY4	196883	broad.mit.edu	37	chr14	24788626	24788626	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctccaccccactgaacTtgggcttggagagcagctgt	10	13	2	2			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr14:24788626T>C	uc001wov.2	-	22	2756	c.2750A>G	c.(2749-2751)AAG>AGG	p.K917R	ADCY4_uc001wow.2_Missense_Mutation_p.K917R|ADCY4_uc010toh.1_Missense_Mutation_p.K603R|ADCY4_uc001wox.2_Missense_Mutation_p.K917R|ADCY4_uc001woy.2_Missense_Mutation_p.K917R	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	917	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		CCCACTGAACTTGGGCTTGGA	0.547													C	24788626	T	C	24788626	3	2	155	1	0	0	0	0	1	0	0	0	296	1609	56	3	499	3	ADCY4	14	24788626	Missense_Mutation	SNP	T	TCGA-CD-A489-01A-11D-A24D-08	5410794	24788626	82560914	72	83260											
SEMA4B	10509	broad.mit.edu	37	chr15	90770820	90770820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacatcgagggagccagcGccaaggacctttgcagcgcg	15	12	0	0			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr15:90770820G>A	uc002boy.2	+	14	2003	c.1720G>A	c.(1720-1722)GCC>ACC	p.A574T	SEMA4B_uc002boz.2_Missense_Mutation_p.A574T|SEMA4B_uc010uqd.1_Missense_Mutation_p.A412T|SEMA4B_uc002bpa.2_Missense_Mutation_p.A412T|SEMA4B_uc010bnv.1_Missense_Mutation_p.A212T	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GGGAGCCAGCGCCAAGGACCT	0.597													A	90770820	G	A	90770820	3	1	155	1	0	0	0	0	1	0	0	0	14032	1087	38	1	1770	1	SEMA4B	15	90770820	Missense_Mutation	SNP	G	TCGA-CD-A489-01A-11D-A24D-08		90770820	11760572	73	83261											
SRCAP	10847	broad.mit.edu	37	chr16	30732220	30732220	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcagcctcacctgccgggccCccgcttattcctgcatctcg	8	19	3	0			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr16:30732220C>G	uc002dze.1	+	20	3559	c.3174C>G	c.(3172-3174)CCC>CCG	p.P1058P	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.P915P|SRCAP_uc010bzz.1_Silent_p.P628P	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1058	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CTGCCGGGCCCCCGCTTATTC	0.642													G	30732220	C	G	30732220	2	3	155	1	0	0	0	0	0	0	0	1	15134	610	22	5		5	SRCAP	16	30732220	Silent	SNP	C	TCGA-CD-A489-01A-11D-A24D-08		30732220	59622533	74	83262											
CDH13	1012	broad.mit.edu	37	chr16	83251091	83251091	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttggacagagaagtaatcGctgtttatcaagtgagtacc	10	8	1	2			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr16:83251091G>T	uc002fgx.2	+	5	745	c.625G>T	c.(625-627)GCT>TCT	p.A209S	CDH13_uc010vns.1_Missense_Mutation_p.A256S|CDH13_uc010vnt.1_5'UTR|CDH13_uc010vnu.1_Missense_Mutation_p.A170S	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	209	Cadherin 1.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AGAAGTAATCGCTGTTTATCA	0.478													T	83251091	G	T	83251091	3	4	155	1	0	0	0	0	1	0	0	0	3099	1087	38	5	643	5	CDH13	16	83251091	Missense_Mutation	SNP	G	TCGA-CD-A489-01A-11D-A24D-08	52518871	83251091	7103662	75	83263											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	14	13	3	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr17:7578394T>C	uc002gim.2	-	5	730	c.536A>G	c.(535-537)CAT>CGT	p.H179R	TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.2_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.1_Missense_Mutation_p.H140R	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	179	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCTCATGGTGGGGGCA	0.642		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C	7578394	T	C	7578394	3	2	155	1	0	0	0	0	1	0	0	0	16378	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-CD-A489-01A-11D-A24D-08		7578394	73616816	76	83264											
CRYBA1	1411	broad.mit.edu	37	chr17	27581338	27581338	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgcccagacttcgcagAtccaatcgattcgccgaatc	7	15	1	2			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr17:27581338A>T	uc002hdw.2	+	6	626	c.619A>T	c.(619-621)ATC>TTC	p.I207F		NM_005208	NP_005199	P05813	CRBA1_HUMAN	crystallin, beta A3	207	Beta/gamma crystallin 'Greek key' 4.				visual perception	soluble fraction	structural constituent of eye lens				0			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GACTTCGCAGATCCAATCGAT	0.438													T	27581338	A	T	27581338	3	4	155	1	0	0	0	0	1	0	0	0	3907	333	12	5	641	5	CRYBA1	17	27581338	Missense_Mutation	SNP	A	TCGA-CD-A489-01A-11D-A24D-08	20002944	27581338	53613872	77	83265											
PIP4K2B	8396	broad.mit.edu	37	chr17	36934602	36934602	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cataccttctccttgtcgctCgcttctctggcaaccgtaga	7	15	2	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr17:36934602C>T	uc002hqs.2	-	6	1159	c.678G>A	c.(676-678)GCG>GCA	p.A226A	PIP4K2B_uc010wdt.1_Silent_p.A226A|PIP4K2B_uc010wdu.1_Silent_p.A162A	NM_003559	NP_003550	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	226	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			ovary(1)	1						CCTTGTCGCTCGCTTCTCTGG	0.562													T	36934602	C	T	36934602	2	4	155	1	0	0	0	0	0	0	0	1	11937	871	31	1		1	PIP4K2B	17	36934602	Silent	SNP	C	TCGA-CD-A489-01A-11D-A24D-08	9353264	36934602	44260608	78	83266											
FN3KRP	79672	broad.mit.edu	37	chr17	80676889	80676889	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctggatgccccaggcggcggGagcgtgctggtgatggagca	19	10	0	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr17:80676889G>T	uc002kfu.2	+	2	299	c.249G>T	c.(247-249)GGG>GGT	p.G83G	FN3KRP_uc010wvr.1_Silent_p.G33G	NM_024619	NP_078895	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	83							kinase activity				0	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CAGGCGGCGGGAGCGTGCTGG	0.537													T	80676889	G	T	80676889	2	4	155	1	0	0	0	0	0	0	0	1	5964	1161	41	5		5	FN3KRP	17	80676889	Silent	SNP	G	TCGA-CD-A489-01A-11D-A24D-08	43742287	80676889	518321	79	83267											
PIK3C3	5289	broad.mit.edu	37	chr18	39573270	39573270	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctccaattttaacaagttttGaattagtgaaagttcctgac	6	7	0	3			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr18:39573270G>A	uc002lap.2	+	7	809	c.751G>A	c.(751-753)GAA>AAA	p.E251K	PIK3C3_uc010xcl.1_Missense_Mutation_p.E188K	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	251					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10						AACAAGTTTTGAATTAGTGAA	0.299										TSP Lung(28;0.18)			A	39573270	G	A	39573270	3	1	155	1	0	0	0	0	1	0	0	0	11912	1291	45	4	777	4	PIK3C3	18	39573270	Missense_Mutation	SNP	G	TCGA-CD-A489-01A-11D-A24D-08		39573270	38503978	80	83268											
ZNF681	148213	broad.mit.edu	37	chr19	23937635	23937635	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcacctacctgggggttcGgccaccatcctatgtctctt	8	15	2	0			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr19:23937635G>A	uc002nrk.3	-	3	358	c.216C>T	c.(214-216)GCC>GCT	p.A72A	ZNF681_uc002nrl.3_Silent_p.A3A|ZNF681_uc002nrj.3_Silent_p.A3A|ZNF681_uc002nrm.1_RNA	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CTGGGGGTTCGGCCACCATCC	0.423													A	23937635	G	A	23937635	2	1	155	1	0	0	0	0	0	0	0	1	18085	1103	39	1		1	ZNF681	19	23937635	Silent	SNP	G	TCGA-CD-A489-01A-11D-A24D-08		23937635	35191348	81	83269											
FLRT3	23767	broad.mit.edu	37	chr20	14307252	14307252	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagggattgttgcgaagaaTcagttgtgttatattgtcca	11	6	1	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr20:14307252T>G	uc002wov.1	-	3	1368	c.901A>C	c.(901-903)ATT>CTT	p.I301L	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.I301L	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	301	Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TTGCGAAGAATCAGTTGTGTT	0.423													G	14307252	T	G	14307252	3	3	155	1	0	0	0	0	1	0	0	0	5940	1435	50	5	1052	5	FLRT3	20	14307252	Missense_Mutation	SNP	T	TCGA-CD-A489-01A-11D-A24D-08		14307252	48718268	82	83270											
TSHZ2	128553	broad.mit.edu	37	chr20	51871474	51871474	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcctctacaaaaacctttaGaccctacaatcaaatatcaa	1	12	3	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr20:51871474G>A	uc002xwo.2	+	2	2433	c.1477G>A	c.(1477-1479)GAC>AAC	p.D493N		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	493					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			AAAACCTTTAGACCCTACAAT	0.408													A	51871474	G	A	51871474	3	1	155	1	0	0	0	0	1	0	0	0	16621	942	33	4	1483	4	TSHZ2	20	51871474	Missense_Mutation	SNP	G	TCGA-CD-A489-01A-11D-A24D-08	37564222	51871474	11154046	83	83271											
PCK1	5105	broad.mit.edu	37	chr20	56139227	56139227	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggtttaaaactctccaggtCatttaagggccatcaaccca	7	11	3	0			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr20:56139227C>A	uc002xyn.3	+	7	1127	c.964C>A	c.(964-966)CAT>AAT	p.H322N	PCK1_uc010zzm.1_Missense_Mutation_p.H5N	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	322					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			skin(1)	1	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CTCTCCAGGTCATTTAAGGGC	0.453													A	56139227	C	A	56139227	3	1	155	1	0	0	0	0	1	0	0	0	11581	826	29	5	986	5	PCK1	20	56139227	Missense_Mutation	SNP	C	TCGA-CD-A489-01A-11D-A24D-08	4267753	56139227	6886293	84	83272											
CDH4	1002	broad.mit.edu	37	chr20	60485616	60485616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccatccgggcacttcagcGtccgcacagaccccgtaacc	8	18	1	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr20:60485616G>A	uc002ybn.1	+	9	1341	c.1327G>A	c.(1327-1329)GTC>ATC	p.V443I	CDH4_uc002ybp.1_Missense_Mutation_p.V369I	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	443	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCACTTCAGCGTCCGCACAGA	0.597													A	60485616	G	A	60485616	3	1	155	1	0	0	0	0	1	0	0	0	3112	1145	40	1	1361	1	CDH4	20	60485616	Missense_Mutation	SNP	G	TCGA-CD-A489-01A-11D-A24D-08	4346389	60485616	2539904	85	83273											
TMPRSS15	5651	broad.mit.edu	37	chr21	19653413	19653413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caatgtcgttgtcctttcttCgcctattgtaatgagggttt	9	8	1	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr21:19653413C>T	uc002ykw.2	-	22	2643	c.2612G>A	c.(2611-2613)CGA>CAA	p.R871Q		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	871	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						GTCCTTTCTTCGCCTATTGTA	0.363													T	19653413	C	T	19653413	3	4	155	1	0	0	0	0	1	0	0	0	16243	884	31	1	463	1	TMPRSS15	21	19653413	Missense_Mutation	SNP	C	TCGA-CD-A489-01A-11D-A24D-08		19653413	28476482	86	83274											
SRPK3	26576	broad.mit.edu	37	chrX	153047060	153047060	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaccgtctggctctgctgGgacatccagtgagtgcctcc	11	15	2	1			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chrX:153047060G>A	uc004fil.2	+	3	323	c.291G>A	c.(289-291)TGG>TGA	p.W97*	SRPK3_uc004fik.2_Nonsense_Mutation_p.W163*|SRPK3_uc010nul.2_Nonsense_Mutation_p.W55*|SRPK3_uc004fin.2_Nonsense_Mutation_p.W97*|SRPK3_uc004fim.2_Nonsense_Mutation_p.W97*	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	serine arginine rich protein-specific kinase 3	97	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			pancreas(2)|lung(1)	3	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCTCTGCTGGGACATCCAGT	0.667													A	153047060	G	A	153047060	4	1	155	1	0	0	0	0	0	1	0	0	15160	1241	43	4	301	4	SRPK3	23	153047060	Nonsense_Mutation	SNP	G	TCGA-CD-A489-01A-11D-A24D-08		153047060	2223500	87	83275											
ISG15	9636	broad.mit.edu	37	chr1	949723	949723	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggtgtgcaggacgacctGttctggctgaccttcgaggg	17	9	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr1:949723G>A	uc001acj.3	+	2	470	c.363G>A	c.(361-363)CTG>CTA	p.L121L		NM_005101	NP_005092	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier precursor	121	Ubiquitin-like 2.				cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		AGGACGACCTGTTCTGGCTGA	0.647													A	949723	G	A	949723	2	1	156	1	0	0	0	0	0	0	0	1	7853	1364	48	4		4	ISG15	1	949723	Silent	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08		949723	248300898	1	83276											
HTR6	3362	broad.mit.edu	37	chr1	20005790	20005790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccagggccgctgccgccGtcaatttcttcaacatcgac	8	17	3	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr1:20005790G>A	uc001bcl.2	+	3	1719	c.1252G>A	c.(1252-1254)GTC>ATC	p.V418I		NM_000871	NP_000862	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6	418	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CGCTGCCGCCGTCAATTTCTT	0.716													A	20005790	G	A	20005790	3	1	156	1	0	0	0	0	1	0	0	0	7451	1145	40	1	1262	1	HTR6	1	20005790	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	19056067	20005790	229244831	2	83277											
EPHB2	2048	broad.mit.edu	37	chr1	23208893	23208893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatcaggtgagccgcaccGtggacagcattaccctgtcg	12	13	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr1:23208893G>A	uc009vqj.1	+	6	1490	c.1345G>A	c.(1345-1347)GTG>ATG	p.V449M	EPHB2_uc001bge.2_Missense_Mutation_p.V449M|EPHB2_uc001bgf.2_Missense_Mutation_p.V449M|EPHB2_uc010odu.1_Missense_Mutation_p.V449M	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	449	Fibronectin type-III 2.|Extracellular (Potential).				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GAGCCGCACCGTGGACAGCAT	0.587									Hereditary_Prostate_Cancer				A	23208893	G	A	23208893	3	1	156	1	0	0	0	0	1	0	0	0	5175	1145	40	1	1367	1	EPHB2	1	23208893	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	3203103	23208893	226041728	3	83278											
AHDC1	27245	broad.mit.edu	37	chr1	27876608	27876608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccccggccaccaaaaccGcctgctttgcccccacgccg	7	23	0	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr1:27876608G>A	uc009vsy.2	-	6	2988	c.2019C>T	c.(2017-2019)GGC>GGT	p.G673G	AHDC1_uc009vsz.1_Silent_p.G673G	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	673	Gly-rich.						DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CACCAAAACCGCCTGCTTTGC	0.652													A	27876608	G	A	27876608	2	1	156	1	0	0	0	0	0	0	0	1	412	1074	38	1		1	AHDC1	1	27876608	Silent	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	4667715	27876608	221374013	4	83279											
CSMD2	114784	broad.mit.edu	37	chr1	34052210	34052210	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggaggcatctgtagcgtacGatgtcacctgtcaaagaaag	13	8	3	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr1:34052210G>A	uc001bxn.1	-	47	6980	c.6951C>T	c.(6949-6951)ATC>ATT	p.I2317I	CSMD2_uc001bxm.1_Silent_p.I2315I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2317	Sushi 13.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTAGCGTACGATGTCACCTG	0.483													A	34052210	G	A	34052210	2	1	156	1	0	0	0	0	0	0	0	1	3945	1048	37	1		1	CSMD2	1	34052210	Silent	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	6175602	34052210	215198411	5	83280											
NEGR1	257194	broad.mit.edu	37	chr1	72163820	72163820	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccattttcaaatggttTtgctataaaaaagaatacag	6	5	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr1:72163820T>C	uc001dfw.2	-	4	638	c.538A>G	c.(538-540)AAA>GAA	p.K180E	NEGR1_uc001dfv.2_Missense_Mutation_p.K52E|NEGR1_uc010oqs.1_Intron	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1 precursor	180	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				ovary(1)	1		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TCAAATGGTTTTGCTATAAAA	0.373													C	72163820	T	C	72163820	3	2	156	1	0	0	0	0	1	0	0	0	10317	1850	64	3	542	3	NEGR1	1	72163820	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	38111610	72163820	177086801	6	83281											
C1orf173	127254	broad.mit.edu	37	chr1	75072397	75072397	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgagccctgtttttatttcTtgagctgaaaatttggctga	9	6	1	4			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr1:75072397T>G	uc001dgg.2	-	10	1596	c.1377A>C	c.(1375-1377)CAA>CAC	p.Q459H	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.Q253H	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	459	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						TTTTTATTTCTTGAGCTGAAA	0.408													G	75072397	T	G	75072397	3	3	156	1	0	0	0	0	1	0	0	0	2014	1606	56	5	3235	5	C1orf173	1	75072397	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	2908577	75072397	174178224	7	83282											
COL24A1	255631	broad.mit.edu	37	chr1	86590871	86590871	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acagtgacagaccagttactCtatcatcatgttgtgtgata	8	8	3	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr1:86590871C>G	uc001dlj.2	-	3	1190	c.1148G>C	c.(1147-1149)AGA>ACA	p.R383T	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.R383T	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	383					cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		ACCAGTTACTCTATCATCATG	0.363													G	86590871	C	G	86590871	3	3	156	1	0	0	0	0	1	0	0	0	3683	913	32	5	4228	5	COL24A1	1	86590871	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	11518474	86590871	162659750	8	83283											
HRNR	388697	broad.mit.edu	37	chr1	152193481	152193481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgtccggagccagagccGtgttggccatagttgggaga	16	9	0	2	rs144030283	byFrequency	TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr1:152193481G>A	uc001ezt.1	-	3	700	c.624C>T	c.(622-624)CAC>CAT	p.H208H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	208	2.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCAGAGCCGTGTTGGCCAT	0.567													A	152193481	G	A	152193481	2	1	156	1	0	0	0	0	0	0	0	1	7359	1136	40	1		1	HRNR	1	152193481	Silent	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	65602610	152193481	97057140	9	83284											
CD1A	909	broad.mit.edu	37	chr1	158225038	158225038	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccctggtccaggggaaacTtcagcaatgaggagtggaag	15	9	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr1:158225038T>G	uc001frt.2	+	2	756	c.223T>G	c.(223-225)TTC>GTC	p.F75V		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	75	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CAGGGGAAACTTCAGCAATGA	0.478													G	158225038	T	G	158225038	3	3	156	1	0	0	0	0	1	0	0	0	2974	1609	56	5	229	5	CD1A	1	158225038	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	6031557	158225038	91025583	10	83285											
OR10K1	391109	broad.mit.edu	37	chr1	158435857	158435857	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtatttcatctgcccttccActcctccaaccagctccatc	3	18	2	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr1:158435857A>T	uc010pij.1	+	1	506	c.506A>T	c.(505-507)CAC>CTC	p.H169L		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K,	169	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					CTGCCCTTCCACTCCTCCAAC	0.532													T	158435857	A	T	158435857	3	4	156	1	0	0	0	0	1	0	0	0	10913	159	6	5	508	5	OR10K1	1	158435857	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	210819	158435857	90814764	11	83286											
SPTA1	6708	broad.mit.edu	37	chr1	158622345	158622345	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttttctcttgaatccatTccagcatgtctcctgcctca	4	15	3	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr1:158622345T>C	uc001fst.1	-	23	3486	c.3287A>G	c.(3286-3288)GAA>GGA	p.E1096G		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1096	Spectrin 11.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TTGAATCCATTCCAGCATGTC	0.443													C	158622345	T	C	158622345	3	2	156	1	0	0	0	0	1	0	0	0	15115	1783	62	3	4092	3	SPTA1	1	158622345	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	186488	158622345	90628276	12	83287											
SPTA1	6708	broad.mit.edu	37	chr1	158653164	158653164	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggcccatacatataccttCgtttcttcgtgggcagaatg	10	10	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr1:158653164C>T	uc001fst.1	-	3	586	c.387G>A	c.(385-387)ACG>ACA	p.T129T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	129	Spectrin 2.			Missing (in Ref. 3; AAA60575).	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CATATACCTTCGTTTCTTCGT	0.393													T	158653164	C	T	158653164	2	4	156	1	0	0	0	0	0	0	0	1	15115	871	31	1		1	SPTA1	1	158653164	Silent	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	30819	158653164	90597457	13	83288											
OR6N2	81442	broad.mit.edu	37	chr1	158747232	158747232	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaactccaagaaggaaagaAcactgacaaagtggtacata	8	8	0	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr1:158747232A>C	uc010pir.1	-	1	194	c.194T>G	c.(193-195)GTT>GGT	p.V65G		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	65	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)					GAAGGAAAGAACACTGACAAA	0.438													C	158747232	A	C	158747232	3	2	156	1	0	0	0	0	1	0	0	0	11207	43	2	5	762	5	OR6N2	1	158747232	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	94068	158747232	90503389	14	83289											
KIAA1614	57710	broad.mit.edu	37	chr1	180910330	180910330	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcccggcccaagctgggcaAgtcccgcagctacagtgtgg	13	14	0	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr1:180910330A>T	uc001gok.2	+	7	3135	c.3068A>T	c.(3067-3069)AAG>ATG	p.K1023M	KIAA1614_uc001gol.1_Missense_Mutation_p.K644M|KIAA1614_uc001gom.1_Missense_Mutation_p.K114M	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	1023	Ser-rich.									ovary(3)|skin(1)	4						AAGCTGGGCAAGTCCCGCAGC	0.622													T	180910330	A	T	180910330	3	4	156	1	0	0	0	0	1	0	0	0	8248	72	3	5	3094	5	KIAA1614	1	180910330	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	22163098	180910330	68340291	15	83290											
HSD11B1	3290	broad.mit.edu	37	chr1	209905907	209905907	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaatcactctctgtgttcTtggcctcatagacacaggta	7	11	5	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr1:209905907T>C	uc001hhj.2	+	6	751	c.644T>C	c.(643-645)CTT>CCT	p.L215P	HSD11B1_uc001hhk.2_Missense_Mutation_p.L215P	NM_181755	NP_861420	P28845	DHI1_HUMAN	11-beta-hydroxysteroid dehydrogenase 1	215	Lumenal (Potential).				glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase (NADP+) activity|11-beta-hydroxysteroid dehydrogenase|binding			breast(1)	1				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	CTCTGTGTTCTTGGCCTCATA	0.299													C	209905907	T	C	209905907	3	2	156	1	0	0	0	0	1	0	0	0	7375	1609	56	3	662	3	HSD11B1	1	209905907	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	28995577	209905907	39344714	16	83291											
LEFTY1	10637	broad.mit.edu	37	chr1	226074671	226074671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcataagccaggaagcccGggggctccagcacccagttc	11	15	1	0	rs146082781		TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr1:226074671G>A	uc001hpo.2	-	4	927	c.857C>T	c.(856-858)CCG>CTG	p.P286L	LEFTY1_uc010pvj.1_3'UTR	NM_020997	NP_066277	O75610	LFTY1_HUMAN	left-right determination, factor B	286					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding				0	Breast(184;0.197)					CAGGAAGCCCGGGGGCTCCAG	0.662													A	226074671	G	A	226074671	3	1	156	1	0	0	0	0	1	0	0	0	8715	1116	39	1	247	1	LEFTY1	1	226074671	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	16168764	226074671	23175950	17	83292											
ZNF695	57116	broad.mit.edu	37	chr1	247150278	247150278	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagggtttttctcaggtatgAgttttctcatgtacagcaag	10	6	2	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr1:247150278A>G	uc009xgu.2	-	4	1684	c.1539T>C	c.(1537-1539)ACT>ACC	p.T513T	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	513	C2H2-type 13.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTCAGGTATGAGTTTTCTCAT	0.353													G	247150278	A	G	247150278	2	3	156	1	0	0	0	0	0	0	0	1	18095	291	11	3		3	ZNF695	1	247150278	Silent	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	21075607	247150278	2100343	18	83293											
OR2G3	81469	broad.mit.edu	37	chr1	247769183	247769183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttacggtggttgtgtggCgcaactctatatttctctgg	11	9	2	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr1:247769183C>T	uc010pyz.1	+	1	296	c.296C>T	c.(295-297)GCG>GTG	p.A99V		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	99	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGTTGTGTGGCGCAACTCTAT	0.483													T	247769183	C	T	247769183	3	4	156	1	0	0	0	0	1	0	0	0	10999	768	27	1	298	1	OR2G3	1	247769183	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	618905	247769183	1481438	19	83294											
OR6F1	343169	broad.mit.edu	37	chr1	247875925	247875925	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctcaccaacatcaagaTagccacattaccactaactg	6	13	2	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr1:247875925T>A	uc001idj.1	-	1	133	c.133A>T	c.(133-135)ATC>TTC	p.I45F		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AACATCAAGATAGCCACATTA	0.458													A	247875925	T	A	247875925	3	1	156	1	0	0	0	0	1	0	0	0	11201	1406	49	5	797	5	OR6F1	1	247875925	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	106742	247875925	1374696	20	83295											
OR2T4	127074	broad.mit.edu	37	chr1	248525571	248525571	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacctcactctatgagatttTcatgtacttgtgctgtgtcc	7	11	3	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr1:248525571T>A	uc001ieh.1	+	1	689	c.689T>A	c.(688-690)TTC>TAC	p.F230Y		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	230	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TATGAGATTTTCATGTACTTG	0.478													A	248525571	T	A	248525571	3	1	156	1	0	0	0	0	1	0	0	0	11027	1783	62	5	691	5	OR2T4	1	248525571	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	649646	248525571	725050	21	83296											
SH3BP5L	80851	broad.mit.edu	37	chr1	249107243	249107243	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaggggcggctcttgccgAtggccctccggagggtcttc	16	12	2	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr1:249107243A>C	uc001iew.1	-	6	1208	c.656T>G	c.(655-657)ATC>AGC	p.I219S	SH3BP5L_uc010pzp.1_Missense_Mutation_p.I112S|SH3BP5L_uc010pzq.1_Missense_Mutation_p.I187S|SH3BP5L_uc001iev.1_Missense_Mutation_p.I100S	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	219	Potential.										0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCTCTTGCCGATGGCCCTCCG	0.652													C	249107243	A	C	249107243	3	2	156	1	0	0	0	0	1	0	0	0	14248	333	12	5	533	5	SH3BP5L	1	249107243	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	581672	249107243	143378	22	83297											
C2orf71	388939	broad.mit.edu	37	chr2	29295113	29295113	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggcaaaatactgaagttcTtggtgagggatgccttgagc	13	6	1	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr2:29295113T>C	uc002rmt.1	-	1	2015	c.2015A>G	c.(2014-2016)AAG>AGG	p.K672R		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	672					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						ACTGAAGTTCTTGGTGAGGGA	0.547													C	29295113	T	C	29295113	3	2	156	1	0	0	0	0	1	0	0	0	2191	1609	56	3	1859	3	C2orf71	2	29295113	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08		29295113	213904260	23	83298											
SLC8A1	6546	broad.mit.edu	37	chr2	40342635	40342635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactgttccccattggctgCgtggtagatggcagcgatgg	15	9	0	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr2:40342635C>T	uc002rrx.2	-	10	2704	c.2680G>A	c.(2680-2682)GCA>ACA	p.A894T	uc002rrw.2_Intron|SLC8A1_uc002rry.2_Missense_Mutation_p.A889T|SLC8A1_uc002rrz.2_Missense_Mutation_p.A881T|SLC8A1_uc002rsa.2_Missense_Mutation_p.A858T|SLC8A1_uc002rsd.3_Missense_Mutation_p.A858T	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	894	Helical; (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCATTGGCTGCGTGGTAGATG	0.542													T	40342635	C	T	40342635	3	4	156	1	0	0	0	0	1	0	0	0	14706	768	27	1	245	1	SLC8A1	2	40342635	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	11047522	40342635	202856738	24	83299											
EPAS1	2034	broad.mit.edu	37	chr2	46607812	46607812	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgggagcagcgccgttGgggccccctgtctctccacc	12	16	2	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr2:46607812G>T	uc002ruv.2	+	12	2489	c.2001G>T	c.(1999-2001)TTG>TTT	p.L667F	EPAS1_uc002ruw.2_Missense_Mutation_p.L133F	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	667					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CAGCGCCGTTGGGGCCCCCTG	0.597													T	46607812	G	T	46607812	3	4	156	1	0	0	0	0	1	0	0	0	5150	1339	47	5	2047	5	EPAS1	2	46607812	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	6265177	46607812	196591561	25	83300											
PCBP1	5093	broad.mit.edu	37	chr2	70315843	70315843	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caacccagtggaaggctcctCtggtaggcaggttactatca	11	11	2	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr2:70315843C>T	uc002sgf.2	+	1	1259	c.968C>T	c.(967-969)TCT>TTT	p.S323F	ASPRV1_uc002sga.2_5'Flank|uc002sgb.1_5'Flank|uc002sgd.2_5'Flank|uc002sge.1_5'Flank	NM_006196	NP_006187	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	323	KH 3.				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding				0						GAAGGCTCCTCTGGTAGGCAG	0.537													T	70315843	C	T	70315843	3	4	156	1	0	0	0	0	1	0	0	0	11500	913	32	4	970	4	PCBP1	2	70315843	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	23708031	70315843	172883530	26	83301											
CNGA3	1261	broad.mit.edu	37	chr2	99013602	99013602	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtacaacgccacccagatgAagatgaagcagcgtctcagc	10	12	1	4			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr2:99013602A>C	uc002syt.2	+	8	2386	c.1969A>C	c.(1969-1971)AAG>CAG	p.K657Q	CNGA3_uc002syu.2_Missense_Mutation_p.K639Q|CNGA3_uc010fij.2_Missense_Mutation_p.K661Q	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	657					signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						CACCCAGATGAAGATGAAGCA	0.587													C	99013602	A	C	99013602	3	2	156	1	0	0	0	0	1	0	0	0	3598	247	9	5	1995	5	CNGA3	2	99013602	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	28697759	99013602	144185771	27	83302											
TFCP2L1	29842	broad.mit.edu	37	chr2	122004466	122004466	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattctcgttctgcttaaaCgtgtcaatctggactcgaaa	7	11	4	0	rs148066295	byFrequency	TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr2:122004466C>T	uc002tmx.2	-	6	678	c.585G>A	c.(583-585)ACG>ACA	p.T195T	TFCP2L1_uc010flr.2_Silent_p.T195T	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	LBP-9	195					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			pancreas(2)|ovary(1)	3	Renal(3;0.01)					TCTGCTTAAACGTGTCAATCT	0.572													T	122004466	C	T	122004466	2	4	156	1	0	0	0	0	0	0	0	1	15793	523	19	1		1	TFCP2L1	2	122004466	Silent	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	22990864	122004466	121194907	28	83303											
CNTNAP5	129684	broad.mit.edu	37	chr2	125367442	125367442	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagccggcttcttctacatCgactcagatggcagcggccc	10	15	3	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr2:125367442C>T	uc002tno.2	+	12	2182	c.1818C>T	c.(1816-1818)ATC>ATT	p.I606I	CNTNAP5_uc010flu.2_Silent_p.I607I	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	606	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTTCTACATCGACTCAGATG	0.527													T	125367442	C	T	125367442	2	4	156	1	0	0	0	0	0	0	0	1	3650	874	31	1		1	CNTNAP5	2	125367442	Silent	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	3362976	125367442	117831931	29	83304											
NCKAP5	344148	broad.mit.edu	37	chr2	133540568	133540568	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagctgtggctgcgggcTttggcgccattcatacccag	13	12	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr2:133540568T>G	uc002ttp.2	-	14	4190	c.3816A>C	c.(3814-3816)AAA>AAC	p.K1272N	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1272							protein binding				0						GGCTGCGGGCTTTGGCGCCAT	0.527													G	133540568	T	G	133540568	3	3	156	1	0	0	0	0	1	0	0	0	10223	1606	56	5	1941	5	NCKAP5	2	133540568	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	8173126	133540568	109658805	30	83305											
RPRM	56475	broad.mit.edu	37	chr2	154335019	154335019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacggctcgctccagcgcctCgctgctgttggccaggaaca	12	16	0	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr2:154335019C>T	uc002tyq.1	-	1	304	c.61G>A	c.(61-63)GAG>AAG	p.E21K		NM_019845	NP_062819	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependant G2 arrest mediator	21					cell cycle arrest	cytoplasm|integral to membrane	protein binding				0						TCCAGCGCCTCGCTGCTGTTG	0.711													T	154335019	C	T	154335019	3	4	156	1	0	0	0	0	1	0	0	0	13618	893	31	1	272	1	RPRM	2	154335019	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	20794451	154335019	88864354	31	83306											
HOXD12	3238	broad.mit.edu	37	chr2	176964778	176964778	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggctggctccgggcctctCggcctgcagcccccaacagc	12	19	1	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr2:176964778C>T	uc010zev.1	+	1	249	c.249C>T	c.(247-249)CTC>CTT	p.L83L	HOXD12_uc010zew.1_Silent_p.L83L	NM_021193	NP_067016	P35452	HXD12_HUMAN	homeobox D12	83				GPLG -> ASR (in Ref. 1; AAF79044).		nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCGGGCCTCTCGGCCTGCAGC	0.741													T	176964778	C	T	176964778	2	4	156	1	0	0	0	0	0	0	0	1	7321	871	31	1		1	HOXD12	2	176964778	Silent	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	22629759	176964778	66234595	32	83307											
TTN	7273	broad.mit.edu	37	chr2	179400781	179400781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgacttggtaaactgtggCatcatcatctgtgacacttg	9	9	4	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr2:179400781C>T	uc010zfg.1	-	306	93213	c.92989G>A	c.(92989-92991)GCC>ACC	p.A30997T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A24692T|TTN_uc010zfi.1_Missense_Mutation_p.A24625T|TTN_uc010zfj.1_Missense_Mutation_p.A24500T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31924							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAACTGTGGCATCATCATCT	0.408													T	179400781	C	T	179400781	3	4	156	1	0	0	0	0	1	0	0	0	16732	710	25	2	7310	2	TTN	2	179400781	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	2436003	179400781	63798592	33	83308											
TTN	7273	broad.mit.edu	37	chr2	179448559	179448559	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aataattttactgcctccatCatgctttggacgagcccaga	7	11	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr2:179448559C>T	uc010zfg.1	-	261	57870	c.57646G>A	c.(57646-57648)GAT>AAT	p.D19216N	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D12911N|TTN_uc010zfi.1_Missense_Mutation_p.D12844N|TTN_uc010zfj.1_Missense_Mutation_p.D12719N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20143							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCCTCCATCATGCTTTGGA	0.453													T	179448559	C	T	179448559	3	4	156	1	0	0	0	0	1	0	0	0	16732	826	29	4	42833	4	TTN	2	179448559	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	47778	179448559	63750814	34	83309											
TTN	7273	broad.mit.edu	37	chr2	179482725	179482725	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtgatctcagcacctccatCatactctggtggttcccatg	8	13	3	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr2:179482725C>T	uc010zfg.1	-	202	39873	c.39649G>A	c.(39649-39651)GAT>AAT	p.D13217N	TTN_uc010zfh.1_Missense_Mutation_p.D6912N|TTN_uc010zfi.1_Missense_Mutation_p.D6845N|TTN_uc010zfj.1_Missense_Mutation_p.D6720N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14144							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACCTCCATCATACTCTGGT	0.463													T	179482725	C	T	179482725	3	4	156	1	0	0	0	0	1	0	0	0	16732	826	29	4	60780	4	TTN	2	179482725	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	34166	179482725	63716648	35	83310											
TTN	7273	broad.mit.edu	37	chr2	179585215	179585215	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagattaaggatatgaagActtgtatcaaaatgttttga	8	3	2	4			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr2:179585215A>C	uc010zfg.1	-	77	19766	c.19542T>G	c.(19540-19542)AGT>AGG	p.S6514R	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3175R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7441							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGATATGAAGACTTGTATCAA	0.398													C	179585215	A	C	179585215	3	2	156	1	0	0	0	0	1	0	0	0	16732	272	10	5	81387	5	TTN	2	179585215	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	102490	179585215	63614158	36	83311											
TTN	7273	broad.mit.edu	37	chr2	179647007	179647007	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggctttgggttgccgccaacTtggcatccaaacaccacgct	10	14	0	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr2:179647007T>A	uc010zfg.1	-	20	3536	c.3312A>T	c.(3310-3312)CAA>CAT	p.Q1104H	TTN_uc010zfh.1_Missense_Mutation_p.Q1058H|TTN_uc010zfi.1_Missense_Mutation_p.Q1058H|TTN_uc010zfj.1_Missense_Mutation_p.Q1058H|TTN_uc002unb.2_Missense_Mutation_p.Q1104H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1104							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCGCCAACTTGGCATCCAA	0.488													A	179647007	T	A	179647007	3	1	156	1	0	0	0	0	1	0	0	0	16732	1606	56	5	108048	5	TTN	2	179647007	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	61792	179647007	63552366	37	83312											
ALS2CR8	79800	broad.mit.edu	37	chr2	203839206	203839206	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tacggtatataactcagagaTtattccagcaacggtatgat	8	7	1	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr2:203839206T>A	uc002uzo.2	+	12	1761	c.1481T>A	c.(1480-1482)ATT>AAT	p.I494N	ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Missense_Mutation_p.I418N|ALS2CR8_uc010zib.1_Missense_Mutation_p.I418N|ALS2CR8_uc010zic.1_Missense_Mutation_p.I406N|ALS2CR8_uc002uzp.2_Missense_Mutation_p.I494N	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	494										large_intestine(1)|ovary(1)	2						AACTCAGAGATTATTCCAGCA	0.318													A	203839206	T	A	203839206	3	1	156	1	0	0	0	0	1	0	0	0	555	1493	52	5	1519	5	ALS2CR8	2	203839206	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	24192199	203839206	39360167	38	83313											
ZDBF2	57683	broad.mit.edu	37	chr2	207171081	207171081	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacctgaaaggtagacaagTccacctaaaacataagaagc	7	9	0	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr2:207171081T>C	uc002vbp.2	+	5	2079	c.1829T>C	c.(1828-1830)GTC>GCC	p.V610A		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	610							nucleic acid binding|zinc ion binding			ovary(3)	3						GGTAGACAAGTCCACCTAAAA	0.418													C	207171081	T	C	207171081	3	2	156	1	0	0	0	0	1	0	0	0	17596	1667	58	3	1839	3	ZDBF2	2	207171081	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	3331875	207171081	36028292	39	83314											
CRYGA	1418	broad.mit.edu	37	chr2	209027988	209027988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatccagtgctgatagtcGgggtacttgcctcggcgcag	13	13	0	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr2:209027988G>A	uc002vcq.3	-	2	209	c.192C>T	c.(190-192)CCC>CCT	p.P64P		NM_014617	NP_055432	P11844	CRGA_HUMAN	crystallin, gamma A	64	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens				0				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		GCTGATAGTCGGGGTACTTGC	0.547													A	209027988	G	A	209027988	2	1	156	1	0	0	0	0	0	0	0	1	3914	1103	39	1		1	CRYGA	2	209027988	Silent	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	1856907	209027988	34171385	40	83315											
ERBB4	2066	broad.mit.edu	37	chr2	212251872	212251872	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccatctcggtatacaaactGgttctgttaataagagaaac	7	8	2	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr2:212251872G>T	uc002veg.1	-	27	3285	c.3187C>A	c.(3187-3189)CAG>AAG	p.Q1063K	ERBB4_uc002veh.1_Missense_Mutation_p.Q1047K|ERBB4_uc010zji.1_Missense_Mutation_p.Q1053K|ERBB4_uc010zjj.1_Missense_Mutation_p.Q1037K	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1063	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TATACAAACTGGTTCTGTTAA	0.428										TSP Lung(8;0.080)			T	212251872	G	T	212251872	3	4	156	1	0	0	0	0	1	0	0	0	5209	1357	47	5	747	5	ERBB4	2	212251872	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	3223884	212251872	30947501	41	83316											
ABCA12	26154	broad.mit.edu	37	chr2	215812212	215812212	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattttctttttgtgccataActgcacatagaggtagctct	7	8	2	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr2:215812212A>G	uc002vew.2	-	48	7393	c.7173T>C	c.(7171-7173)AGT>AGC	p.S2391S	ABCA12_uc002vev.2_Silent_p.S2073S|ABCA12_uc010zjn.1_Silent_p.S1318S	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	2391	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTGTGCCATAACTGCACATAG	0.433													G	215812212	A	G	215812212	2	3	156	1	0	0	0	0	0	0	0	1	30	40	2	3		3	ABCA12	2	215812212	Silent	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	3560340	215812212	27387161	42	83317											
ZNF142	7701	broad.mit.edu	37	chr2	219508077	219508077	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccctcgttttcctcccccGccacgtccccccctgcagcc	6	24	0	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr2:219508077G>A	uc002vin.2	-	8	3598	c.3162C>T	c.(3160-3162)GGC>GGT	p.G1054G	ZNF142_uc002vil.2_Silent_p.G1015G|ZNF142_uc010fvt.2_Silent_p.G891G|ZNF142_uc002vim.2_Silent_p.G891G	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	1054					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TTCCTCCCCCGCCACGTCCCC	0.602													A	219508077	G	A	219508077	2	1	156	1	0	0	0	0	0	0	0	1	17728	1074	38	1		1	ZNF142	2	219508077	Silent	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	3695865	219508077	23691296	43	83318											
GLB1L	79411	broad.mit.edu	37	chr2	220101991	220101991	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctaggaaacagcaggaatcTtggcacgtagagggtctgtt	13	8	2	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr2:220101991T>C	uc002vkm.2	-	17	2007	c.1768A>G	c.(1768-1770)AGA>GGA	p.R590G	GLB1L_uc002vkk.2_Missense_Mutation_p.R347G|GLB1L_uc010zkx.1_Missense_Mutation_p.R500G|GLB1L_uc002vkn.2_Missense_Mutation_p.R590G	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like precursor	590					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds				0		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCAGGAATCTTGGCACGTAG	0.502													C	220101991	T	C	220101991	3	2	156	1	0	0	0	0	1	0	0	0	6428	1617	56	3	200	3	GLB1L	2	220101991	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	593914	220101991	23097382	44	83319											
EFHB	151651	broad.mit.edu	37	chr3	19974753	19974753	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggggtccgatcaaaaaacTtcccagagtatatgggtctg	11	8	2	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr3:19974753T>C	uc003cbl.3	-	1	954	c.758A>G	c.(757-759)AAG>AGG	p.K253R	EFHB_uc003cbm.2_Missense_Mutation_p.K123R	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	253					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0						ATCAAAAAACTTCCCAGAGTA	0.428													C	19974753	T	C	19974753	3	2	156	1	0	0	0	0	1	0	0	0	4945	1609	56	3	1795	3	EFHB	3	19974753	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08		19974753	178047677	45	83320											
SCN5A	6331	broad.mit.edu	37	chr3	38648286	38648286	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcctttaggcaccggtaGccctccggacatgtcctgca	10	16	0	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr3:38648286G>A	uc003cio.2	-	9	1208	c.1014C>T	c.(1012-1014)GGC>GGT	p.G338G	SCN5A_uc003cin.2_Silent_p.G338G|SCN5A_uc003cil.3_Silent_p.G338G|SCN5A_uc010hhi.2_Silent_p.G338G|SCN5A_uc010hhk.2_Silent_p.G338G|SCN5A_uc011ayr.1_Silent_p.G338G|SCN5A_uc010hhj.1_5'Flank	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	338					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGCACCGGTAGCCCTCCGGAC	0.607													A	38648286	G	A	38648286	2	1	156	1	0	0	0	0	0	0	0	1	13922	958	34	2		2	SCN5A	3	38648286	Silent	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	18673533	38648286	159374144	46	83321											
SCN10A	6336	broad.mit.edu	37	chr3	38755486	38755486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaagagcccgcagtggcCgcagagcgcgaagggttcga	17	10	0	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr3:38755486C>T	uc003ciq.2	-	21	3767	c.3767G>A	c.(3766-3768)CGG>CAG	p.R1256Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1256	III.|Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCGCAGTGGCCGCAGAGCGCG	0.423													T	38755486	C	T	38755486	3	4	156	1	0	0	0	0	1	0	0	0	13912	652	23	1	2131	1	SCN10A	3	38755486	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	107200	38755486	159266944	47	83322											
SCN11A	11280	broad.mit.edu	37	chr3	38888666	38888666	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgcttctgggtcaaacTtttcccacacttcataaaat	6	10	3	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr3:38888666T>G	uc011ays.1	-	26	5094	c.4895A>C	c.(4894-4896)AAG>ACG	p.K1632T		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1632					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGGGTCAAACTTTTCCCACAC	0.398													G	38888666	T	G	38888666	3	3	156	1	0	0	0	0	1	0	0	0	13913	1609	56	5	484	5	SCN11A	3	38888666	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	133180	38888666	159133764	48	83323											
NCKIPSD	51517	broad.mit.edu	37	chr3	48717103	48717103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccaggctgcacatggcgCcaaagcacttgaggagcagc	12	13	0	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr3:48717103C>T	uc003cun.2	-	8	1488	c.1394G>A	c.(1393-1395)GGC>GAC	p.G465D	NCKIPSD_uc003cum.2_Missense_Mutation_p.G458D	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain isoform	465	Leu-rich.				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCACATGGCGCCAAAGCACTT	0.607													T	48717103	C	T	48717103	3	4	156	1	0	0	0	0	1	0	0	0	10225	739	26	2	798	2	NCKIPSD	3	48717103	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	9828437	48717103	149305327	49	83324											
GMPPB	29925	broad.mit.edu	37	chr3	49760467	49760467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catggcttggaaggggaaatCgcagatcacgtcactgttga	13	8	2	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr3:49760467C>T	uc003cxk.1	-	4	565	c.340G>A	c.(340-342)GAT>AAT	p.D114N	GMPPB_uc003cxl.1_Missense_Mutation_p.D114N	NM_021971	NP_068806	Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B isoform 2	114					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAGGGGAAATCGCAGATCACG	0.607													T	49760467	C	T	49760467	3	4	156	1	0	0	0	0	1	0	0	0	6495	884	31	1	843	1	GMPPB	3	49760467	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	1043364	49760467	148261963	50	83325											
CACNA2D3	55799	broad.mit.edu	37	chr3	55038828	55038828	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagccatgtgtagagccaAcaaggaaagcagcgatggcg	13	10	0	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr3:55038828A>C	uc003dhf.2	+	32	2777	c.2729A>C	c.(2728-2730)AAC>ACC	p.N910T	CACNA2D3_uc003dhg.1_Missense_Mutation_p.N816T|CACNA2D3_uc003dhh.1_RNA	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	910	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGTAGAGCCAACAAGGAAAGC	0.463													C	55038828	A	C	55038828	3	2	156	1	0	0	0	0	1	0	0	0	2550	43	2	5	2855	5	CACNA2D3	3	55038828	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	5278361	55038828	142983602	51	83326											
EPHA3	2042	broad.mit.edu	37	chr3	89499325	89499325	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaaactttgcttctcacacAggtaattaaagctgtagatg	8	7	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr3:89499325A>T	uc003dqy.2	+	15	2722	c.2497_splice	c.e15-2	p.V833_splice	EPHA3_uc010hon.1_Splice_Site	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor							extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTTCTCACACAGGTAATTAAA	0.478										TSP Lung(6;0.00050)			T	89499325	A	T	89499325	5	4	156	1	0	0	0	0	0	0	1	0	5168	202	7	5	2579	5	EPHA3	3	89499325	Splice_Site	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	34460497	89499325	108523105	52	83327											
OR5AC2	81050	broad.mit.edu	37	chr3	97806056	97806056	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataagactcttgtgacagagTttgttctcacaggacttaca	8	8	2	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr3:97806056T>C	uc011bgs.1	+	1	40	c.40T>C	c.(40-42)TTT>CTT	p.F14L		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC,	14	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TGTGACAGAGTTTGTTCTCAC	0.418													C	97806056	T	C	97806056	3	2	156	1	0	0	0	0	1	0	0	0	11141	1725	60	3	42	3	OR5AC2	3	97806056	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	8306731	97806056	100216374	53	83328											
COL8A1	1295	broad.mit.edu	37	chr3	99513455	99513455	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accaggacctcaaggccttcGgggtcctaaaggagacaagg	13	11	1	1	rs147906655	byFrequency	TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr3:99513455G>T	uc003dtg.1	+	5	955	c.710G>T	c.(709-711)CGG>CTG	p.R237L	COL8A1_uc003dth.1_Missense_Mutation_p.R237L|COL8A1_uc003dti.1_Missense_Mutation_p.R238L	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	237	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						CAAGGCCTTCGGGGTCCTAAA	0.632													T	99513455	G	T	99513455	3	4	156	1	0	0	0	0	1	0	0	0	3705	1116	39	5	716	5	COL8A1	3	99513455	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	1707399	99513455	98508975	54	83329											
PARP9	83666	broad.mit.edu	37	chr3	122274887	122274887	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaggacttcacacagctgaCgctcattattttttaaaatt	7	8	2	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr3:122274887C>A	uc010hri.2	-	4	381	c.236G>T	c.(235-237)CGT>CTT	p.R79L	PARP9_uc003eff.3_Missense_Mutation_p.R44L|PARP9_uc011bjs.1_Missense_Mutation_p.R44L|PARP9_uc003efg.2_Intron|PARP9_uc003efi.2_Missense_Mutation_p.R44L|PARP9_uc003efh.2_Missense_Mutation_p.R79L|PARP9_uc003efj.2_Missense_Mutation_p.R44L	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	79					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)|pancreas(1)|prostate(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0519)		ACACAGCTGACGCTCATTATT	0.403													A	122274887	C	A	122274887	3	1	156	1	0	0	0	0	1	0	0	0	11466	536	19	5	2413	5	PARP9	3	122274887	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	22761432	122274887	75747543	55	83330											
C3orf27	23434	broad.mit.edu	37	chr3	128292250	128292250	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggaggggtgaggaaaggcCcacagtggcacagcagagtc	18	8	0	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr3:128292250C>A	uc003ekq.2	-	3	1290	c.323G>T	c.(322-324)GGG>GTG	p.G108V		NM_007354	NP_031380	O15544	GR6_HUMAN	putative GR6 protein	108											0				GBM - Glioblastoma multiforme(114;0.176)		GAGGAAAGGCCCACAGTGGCA	0.567													A	128292250	C	A	128292250	3	1	156	1	0	0	0	0	1	0	0	0	2219	623	22	5	130	5	C3orf27	3	128292250	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	6017363	128292250	69730180	56	83331											
RBP2	5948	broad.mit.edu	37	chr3	139173592	139173592	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtacagcttgtccccctcAatccactgcttccagccgcg	8	17	1	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr3:139173592A>C	uc003eth.2	-	3	384	c.333T>G	c.(331-333)ATT>ATG	p.I111M		NM_004164	NP_004155	P50120	RET2_HUMAN	retinol binding protein 2, cellular	111					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			skin(1)	1					Vitamin A(DB00162)	TGTCCCCCTCAATCCACTGCT	0.532													C	139173592	A	C	139173592	3	2	156	1	0	0	0	0	1	0	0	0	13156	126	5	5	79	5	RBP2	3	139173592	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	10881342	139173592	58848838	57	83332											
ZBBX	79740	broad.mit.edu	37	chr3	167023666	167023666	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaaggaggtgctttccTcaattttttcaatgtcagaa	7	7	4	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr3:167023666T>C	uc003fep.2	-	17	1813	c.1490A>G	c.(1489-1491)GAG>GGG	p.E497G	ZBBX_uc011bpc.1_Missense_Mutation_p.E497G|ZBBX_uc003feq.2_Missense_Mutation_p.E468G	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	497						intracellular	zinc ion binding			ovary(2)	2						GGTGCTTTCCTCAATTTTTTC	0.338													C	167023666	T	C	167023666	3	2	156	1	0	0	0	0	1	0	0	0	17513	1551	54	3	932	3	ZBBX	3	167023666	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	27850074	167023666	30998764	58	83333											
C3orf70	285382	broad.mit.edu	37	chr3	184801262	184801262	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtgagcgagactgagatctGaatggtgtttgtgggttccc	16	6	1	4			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr3:184801262G>T	uc003fpd.2	-	2	477	c.286C>A	c.(286-288)CAG>AAG	p.Q96K		NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN	hypothetical protein LOC285382	96											0						ACTGAGATCTGAATGGTGTTT	0.502													T	184801262	G	T	184801262	3	4	156	1	0	0	0	0	1	0	0	0	2242	1299	45	5	470	5	C3orf70	3	184801262	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	17777596	184801262	13221168	59	83334											
SENP2	59343	broad.mit.edu	37	chr3	185324165	185324165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaagaccaggtggccgtcGccatagcaaaggtaatccag	12	10	0	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr3:185324165G>A	uc003fpn.2	+	6	668	c.497G>A	c.(496-498)CGC>CAC	p.R166H	SENP2_uc011brv.1_Missense_Mutation_p.R156H|SENP2_uc011brw.1_5'UTR	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific protease 2	166					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity				0	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GGTGGCCGTCGCCATAGCAAA	0.423													A	185324165	G	A	185324165	3	1	156	1	0	0	0	0	1	0	0	0	14047	1087	38	1	519	1	SENP2	3	185324165	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	522903	185324165	12698265	60	83335											
UBXN7	26043	broad.mit.edu	37	chr3	196129884	196129884	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaattggggcacgaacTtcttctctattaaaaaaaaa	8	6	2	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr3:196129884T>G	uc003fwm.3	-	3	303	c.228A>C	c.(226-228)GAA>GAC	p.E76D	UBXN7_uc003fwn.3_5'UTR|UBXN7_uc010iae.2_Intron|UBXN7_uc010iaf.2_Missense_Mutation_p.E76D	NM_015562	NP_056377	O94888	UBXN7_HUMAN	UBX domain containing 7	76							protein binding			ovary(2)|pancreas(1)	3						GGGCACGAACTTCTTCTCTAT	0.323													G	196129884	T	G	196129884	3	3	156	1	0	0	0	0	1	0	0	0	16915	1606	56	5	1277	5	UBXN7	3	196129884	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	10805719	196129884	1892546	61	83336											
GABRB1	2560	broad.mit.edu	37	chr4	47427934	47427934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctcaaagtcaagatccccGacttgactgatgtgaattcc	8	11	2	4			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr4:47427934G>A	uc003gxh.2	+	9	1698	c.1324G>A	c.(1324-1326)GAC>AAC	p.D442N	GABRB1_uc011bze.1_Missense_Mutation_p.D372N	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	442	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAAGATCCCCGACTTGACTGA	0.557													A	47427934	G	A	47427934	3	1	156	1	0	0	0	0	1	0	0	0	6166	1058	37	1	1358	1	GABRB1	4	47427934	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08		47427934	143726342	62	83337											
KDR	3791	broad.mit.edu	37	chr4	55972029	55972029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggagatcaccctctctcCtctcccgactttgttgaccg	8	15	3	2	rs55716939	byFrequency	TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr4:55972029C>T	uc003has.2	-	12	1917	c.1615G>A	c.(1615-1617)GGA>AGA	p.G539R	KDR_uc003hat.1_Missense_Mutation_p.G539R|KDR_uc011bzx.1_Missense_Mutation_p.G539R	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	539	Ig-like C2-type 5.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	ACCCTCTCTCCTCTCCCGACT	0.473			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			T	55972029	C	T	55972029	3	4	156	1	0	0	0	0	1	0	0	0	8139	690	24	4	2531	4	KDR	4	55972029	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	8544095	55972029	135182247	63	83338											
RUFY3	22902	broad.mit.edu	37	chr4	71644096	71644098	+	In_Frame_Del	DEL	AAC	AAC	-													tatattatagtgctactgtaAacaaccttcaggcaaaagta							TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr4:71644096_71644098delAAC	uc003hfq.2	+	8	1430_1432	c.835_837delAAC	c.(835-837)AACdel	p.N280del	RUFY3_uc003hfp.3_In_Frame_Del_p.N340del|RUFY3_uc011cax.1_In_Frame_Del_p.N298del|RUFY3_uc003hfr.2_In_Frame_Del_p.N280del|RUFY3_uc011cay.1_In_Frame_Del_p.N216del	NM_014961	NP_055776	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3 isoform 2	280	Potential.				negative regulation of axonogenesis	filopodium|growth cone					0		all_hematologic(202;0.248)	Lung(101;0.235)			TGCTACTGTAAACAACCTTCAGG	0.315													-	71644098	AAC	-	71644096	7	5	156	1	0	1	0	1	0	0	0	0	13740	14	1	0	1227	0	RUFY3	4	71644096	In_Frame_Del	DEL	AAC	TCGA-CD-A48A-01A-12D-A24D-08	15672067	71644096	119510180	64	83339											
DMP1	1758	broad.mit.edu	37	chr4	88583780	88583780	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgacagaagcgagcttgatGacaacaacacaatggaagaa	10	7	0	5			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr4:88583780G>A	uc003hqv.2	+	6	954	c.850G>A	c.(850-852)GAC>AAC	p.D284N	DMP1_uc003hqw.2_Missense_Mutation_p.D268N	NM_004407	NP_004398	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1 isoform 1	284					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			pancreas(1)|skin(1)	2		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		CGAGCTTGATGACAACAACAC	0.488													A	88583780	G	A	88583780	3	1	156	1	0	0	0	0	1	0	0	0	4583	1290	45	4	868	4	DMP1	4	88583780	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	16939684	88583780	102570496	65	83340											
SCLT1	132320	broad.mit.edu	37	chr4	129913355	129913355	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggagttgttcgattatcacaCtttgttcagttactgttttc	8	7	2	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr4:129913355C>G	uc003igp.2	-	9	1159	c.653G>C	c.(652-654)AGT>ACT	p.S218T	SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Missense_Mutation_p.S218T|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	218	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5						GATTATCACACTTTGTTCAGT	0.294													G	129913355	C	G	129913355	3	3	156	1	0	0	0	0	1	0	0	0	13906	565	20	5	1465	5	SCLT1	4	129913355	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	41329575	129913355	61240921	66	83341											
PCDH10	57575	broad.mit.edu	37	chr4	134073102	134073102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggttacctgctcacccgcGtggccgccgtggacgcggac	15	16	1	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr4:134073102G>A	uc003iha.2	+	1	2633	c.1807G>A	c.(1807-1809)GTG>ATG	p.V603M	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.V603M	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	603	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)		GCTCACCCGCGTGGCCGCCGT	0.692													A	134073102	G	A	134073102	3	1	156	1	0	0	0	0	1	0	0	0	11507	1145	40	1	1809	1	PCDH10	4	134073102	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	4159747	134073102	57081174	67	83342											
DCHS2	54798	broad.mit.edu	37	chr4	155237128	155237128	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataatccaaaggacaggttgTggttagtaagcctgttttga	11	5	0	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr4:155237128T>C	uc003inw.2	-	15	3667	c.3667A>G	c.(3667-3669)ACA>GCA	p.T1223A		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1223	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGACAGGTTGTGGTTAGTAAG	0.383													C	155237128	T	C	155237128	3	2	156	1	0	0	0	0	1	0	0	0	4288	1696	59	3	5127	3	DCHS2	4	155237128	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	21164026	155237128	35917148	68	83343											
LRAT	9227	broad.mit.edu	37	chr4	155665550	155665550	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcatctccaacttcacgctCtttagttcgggcgccgcggg	10	15	4	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr4:155665550C>T	uc003iom.1	+	1	399	c.72C>T	c.(70-72)CTC>CTT	p.L24L	uc003iol.2_Intron|LRAT_uc003ion.1_Silent_p.L24L	NM_004744	NP_004735	O95237	LRAT_HUMAN	lecithin retinol acyltransferase	24	Cytoplasmic (By similarity).				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)	1	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	ACTTCACGCTCTTTAGTTCGG	0.577													T	155665550	C	T	155665550	2	4	156	1	0	0	0	0	0	0	0	1	8930	900	32	4		4	LRAT	4	155665550	Silent	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	428422	155665550	35488726	69	83344											
SLC12A7	10723	broad.mit.edu	37	chr5	1052500	1052500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagatggtgatcacctccCggccgccacccctgaccagg	11	16	1	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr5:1052500C>T	uc003jbu.2	-	24	3293	c.3227G>A	c.(3226-3228)CGG>CAG	p.R1076Q		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	1076	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GATCACCTCCCGGCCGCCACC	0.612													T	1052500	C	T	1052500	3	4	156	1	0	0	0	0	1	0	0	0	14388	652	23	1	28	1	SLC12A7	5	1052500	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08		1052500	179862760	70	83345											
ADAMTS16	170690	broad.mit.edu	37	chr5	5187859	5187859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatctgctttattcaaagatGgaacaataggaggaaacatc	8	6	2	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr5:5187859G>A	uc003jdl.2	+	6	1123	c.985G>A	c.(985-987)GGA>AGA	p.G329R	ADAMTS16_uc003jdk.1_Missense_Mutation_p.G329R|ADAMTS16_uc003jdj.1_Missense_Mutation_p.G329R	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	329	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						ATTCAAAGATGGAACAATAGG	0.388													A	5187859	G	A	5187859	3	1	156	1	0	0	0	0	1	0	0	0	261	1349	47	4	1007	4	ADAMTS16	5	5187859	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	4135359	5187859	175727401	71	83346											
RXFP3	51289	broad.mit.edu	37	chr5	33938145	33938145	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggatcaggggctgcaggccCcggcgccgccccacgcggcc	16	18	1	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr5:33938145C>A	uc003jic.1	+	1	1657	c.1300C>A	c.(1300-1302)CCG>ACG	p.P434T		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	434	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						GCTGCAggccccggcgccgcc	0.567													A	33938145	C	A	33938145	3	1	156	1	0	0	0	0	1	0	0	0	13761	623	22	5	1302	5	RXFP3	5	33938145	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	28750286	33938145	146977115	72	83347											
GZMA	3001	broad.mit.edu	37	chr5	54405934	54405934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaataaatgcggagaccctcGtgggcctggtgtctatattc	11	9	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr5:54405934G>A	uc003jpm.2	+	5	750	c.713G>A	c.(712-714)CGT>CAT	p.R238H		NM_006144	NP_006135	P12544	GRAA_HUMAN	granzyme A precursor	238	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GGAGACCCTCGTGGGCCTGGT	0.448													A	54405934	G	A	54405934	3	1	156	1	0	0	0	0	1	0	0	0	6915	1145	40	1	731	1	GZMA	5	54405934	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	20467789	54405934	126509326	73	83348											
IL31RA	133396	broad.mit.edu	37	chr5	55185823	55185823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcaacttcgctaagaaccGtaaggataaaaaccaaacgt	7	9	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr5:55185823G>A	uc003jql.2	+	6	697	c.632G>A	c.(631-633)CGT>CAT	p.R211H	IL31RA_uc003jqk.2_Missense_Mutation_p.R211H|IL31RA_uc011cqj.1_Missense_Mutation_p.R69H|IL31RA_uc003jqm.2_Missense_Mutation_p.R179H|IL31RA_uc003jqn.2_Missense_Mutation_p.R211H|IL31RA_uc010iwa.1_Missense_Mutation_p.R179H|IL31RA_uc003jqo.2_Missense_Mutation_p.R69H	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	179	Extracellular (Potential).|Fibronectin type-III 2.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GCTAAGAACCGTAAGGATAAA	0.448													A	55185823	G	A	55185823	3	1	156	1	0	0	0	0	1	0	0	0	7691	1145	40	1	654	1	IL31RA	5	55185823	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	779889	55185823	125729437	74	83349											
CCDC125	202243	broad.mit.edu	37	chr5	68578671	68578671	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagaatttaaaatgcagacaCttgaatgtataggatcaccc	7	8	1	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr5:68578671C>G	uc003jvv.1	-	11	1464	c.1421G>C	c.(1420-1422)AGT>ACT	p.S474T	CCDC125_uc003jvx.1_3'UTR|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_Missense_Mutation_p.S349T	NM_176816	NP_789786	Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	474						cytoplasm					0		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		AATGCAGACACTTGAATGTAT	0.363													G	68578671	C	G	68578671	3	3	156	1	0	0	0	0	1	0	0	0	2761	565	20	5	118	5	CCDC125	5	68578671	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	13392848	68578671	112336589	75	83350											
CAMK4	814	broad.mit.edu	37	chr5	110712611	110712611	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcagtctggtcctagaActcgtcacaggaggagaact	11	9	3	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr5:110712611A>C	uc011cvj.1	+	5	456	c.357A>C	c.(355-357)GAA>GAC	p.E119D	CAMK4_uc003kpf.2_Missense_Mutation_p.E119D|CAMK4_uc010jbv.2_Intron	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	119	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TGGTCCTAGAACTCGTCACAG	0.343													C	110712611	A	C	110712611	3	2	156	1	0	0	0	0	1	0	0	0	2605	40	2	5	371	5	CAMK4	5	110712611	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	42133940	110712611	70202649	76	83351											
FAM170A	340069	broad.mit.edu	37	chr5	118968544	118968544	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacttctacctccgaatacTgctcctgcgtttcttcttca	4	14	4	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr5:118968544T>C	uc003ksm.2	+	2	382	c.172T>C	c.(172-174)TGC>CGC	p.C58R	FAM170A_uc003ksl.2_Missense_Mutation_p.C58R|FAM170A_uc003ksn.2_Missense_Mutation_p.C58R|FAM170A_uc003kso.2_Intron	NM_182761	NP_877438	A1A519	F170A_HUMAN	family with sequence similarity 170, member A	58						intracellular	zinc ion binding			skin(1)	1						CTCCGAATACTGCTCCTGCGT	0.552													C	118968544	T	C	118968544	3	2	156	1	0	0	0	0	1	0	0	0	5489	1580	55	3	178	3	FAM170A	5	118968544	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	8255933	118968544	61946716	77	83352											
LECT2	3950	broad.mit.edu	37	chr5	135286988	135286988	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctggcccacaatcattccAgtgaatggtgcgtacacagt	9	12	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr5:135286988A>G	uc003lbe.1	-	3	414	c.213T>C	c.(211-213)ACT>ACC	p.T71T	FBXL21_uc003lbc.2_RNA	NM_002302	NP_002293	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2 precursor	71					chemotaxis|skeletal system development	cytoplasm|extracellular space				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAATCATTCCAGTGAATGGTG	0.453													G	135286988	A	G	135286988	2	3	156	1	0	0	0	0	0	0	0	1	8713	175	7	3		3	LECT2	5	135286988	Silent	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	16318444	135286988	45628272	78	83353											
PCDHA1	56147	broad.mit.edu	37	chr5	140168189	140168189	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaccgacctcatggccTtcagcccaggcctatctcca	7	18	3	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr5:140168189T>G	uc003lhb.2	+	1	2314	c.2314T>G	c.(2314-2316)TTC>GTC	p.F772V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.F772V	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	772	Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCATGGCCTTCAGCCCAGG	0.532													G	140168189	T	G	140168189	3	3	156	1	0	0	0	0	1	0	0	0	11519	1609	56	5	2316	5	PCDHA1	5	140168189	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	4881201	140168189	40747071	79	83354											
PCDHGA9	56107	broad.mit.edu	37	chr5	140782734	140782734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgtctctagaggtaggaCgcagcttttctctctgaacc	9	12	3	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr5:140782734C>T	uc003lkh.1	+	1	215	c.215C>T	c.(214-216)ACG>ATG	p.T72M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.T72M	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	72	Cadherin 1.|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)			AGAGGTAGGACGCAGCTTTTC	0.622													T	140782734	C	T	140782734	3	4	156	1	0	0	0	0	1	0	0	0	11561	536	19	1	217	1	PCDHGA9	5	140782734	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	614545	140782734	40132526	80	83355											
FAT2	2196	broad.mit.edu	37	chr5	150946485	150946486	+	Frame_Shift_Del	DEL	AT	AT	-													caatacccctgttttatcacAtgttacaggaacttcaaaat							TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr5:150946484_150946485CAT>C	uc003lue.4	-	0	2021_2022	c.2008_2009ATG>G	c.(2008-2010)tgtfs	p.C670fs	FAT2_uc010jhx.1_Frame_Shift_Del_p.C670fs	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	670					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTTTTATCACATGTTACAGGA	0.416													-	150946486	AT	-	150946485	7	5	156	1	0	1	0	1	0	0	0	0	5690	217	8	0	11133	0	FAT2	5	150946485	Frame_Shift_Del	DEL	AT	TCGA-CD-A48A-01A-12D-A24D-08	10163751	150946485	29968775	81	83356											
RNF182	221687	broad.mit.edu	37	chr6	13977616	13977616	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgatgacaacaacatccttgTaaacttgacttgtggaggca	9	9	0	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr6:13977616T>G	uc003nbe.2	+	3	684	c.266T>G	c.(265-267)GTA>GGA	p.V89G	RNF182_uc003nbf.2_Missense_Mutation_p.V89G|RNF182_uc003nbg.2_Missense_Mutation_p.V89G	NM_152737	NP_689950	Q8N6D2	RN182_HUMAN	ring finger protein 182	89						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			AACATCCTTGTAAACTTGACT	0.532													G	13977616	T	G	13977616	3	3	156	1	0	0	0	0	1	0	0	0	13466	1638	57	5	268	5	RNF182	6	13977616	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08		13977616	157137451	82	83357											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056613	26056613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttacaggggccttctccGcaggaggcgcggcagcggga	16	12	2	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr6:26056613G>A	uc003nfw.2	-	1	87	c.44C>T	c.(43-45)GCG>GTG	p.A15V		NM_005319	NP_005310	P16403	H12_HUMAN	histone cluster 1, H1c	15					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)|skin(2)	5						GGCCTTCTCCGCAGGAGGCGC	0.617													A	26056613	G	A	26056613	3	1	156	1	0	0	0	0	1	0	0	0	7124	1087	38	1	601	1	HIST1H1C	6	26056613	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	12078997	26056613	145058454	83	83358											
HIST1H1D	3007	broad.mit.edu	37	chr6	26234947	26234947	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtttttttctacatcgTagccagcagccgcaagcgct	9	11	1	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr6:26234947T>C	uc003nhd.2	-	1	270	c.215A>G	c.(214-216)TAC>TGC	p.Y72C		NM_005320	NP_005311	P16402	H13_HUMAN	histone cluster 1, H1d	72	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TTCTACATCGTAGCCAGCAGC	0.552													C	26234947	T	C	26234947	3	2	156	1	0	0	0	0	1	0	0	0	7125	1638	57	3	454	3	HIST1H1D	6	26234947	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	178334	26234947	144880120	84	83359											
GPX6	257202	broad.mit.edu	37	chr6	28478608	28478608	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaactgcttgaattggAtgtactcctcgccgttgagg	11	10	0	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr6:28478608A>G	uc011dlj.1	-	2	211	c.161T>C	c.(160-162)ATC>ACC	p.I54T	GPX6_uc010jrg.1_RNA	NM_182701	NP_874360	P59796	GPX6_HUMAN	glutathione peroxidase 6 precursor	54					response to oxidative stress	extracellular region	glutathione peroxidase activity			ovary(3)|pancreas(1)|skin(1)	5					Glutathione(DB00143)	CTTGAATTGGATGTACTCCTC	0.478													G	28478608	A	G	28478608	3	3	156	1	0	0	0	0	1	0	0	0	6744	333	12	3	520	3	GPX6	6	28478608	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	2243661	28478608	142636459	85	83360											
HLA-DPA1	3113	broad.mit.edu	37	chr6	33036858	33036858	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcagtcatagaagtccTctgctgagggcacaaaggtc	11	12	2	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr6:33036858T>C	uc003ocs.1	-	3	597	c.566A>G	c.(565-567)GAG>GGG	p.E189G	HLA-DPA1_uc010juk.2_Missense_Mutation_p.E189G|HLA-DPA1_uc003oct.1_Missense_Mutation_p.E189G	NM_033554	NP_291032	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP	189	Alpha-2.|Ig-like C1-type.|Extracellular (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			skin(1)	1						ATAGAAGTCCTCTGCTGAGGG	0.557													C	33036858	T	C	33036858	3	2	156	1	0	0	0	0	1	0	0	0	7202	1551	54	3	224	3	HLA-DPA1	6	33036858	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	4558250	33036858	138078209	86	83361											
GRIK2	2898	broad.mit.edu	37	chr6	102307263	102307263	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcagagagttatctacaatCcttggctttacatatgaaat	6	8	2	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr6:102307263C>A	uc003pqp.3	+	10	1668	c.1419C>A	c.(1417-1419)ATC>ATA	p.I473I	GRIK2_uc003pqn.2_Silent_p.I473I|GRIK2_uc003pqo.3_Silent_p.I473I|GRIK2_uc010kcw.2_Silent_p.I473I	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	473	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TATCTACAATCCTTGGCTTTA	0.393													A	102307263	C	A	102307263	2	1	156	1	0	0	0	0	0	0	0	1	6774	845	30	5		5	GRIK2	6	102307263	Silent	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	69270405	102307263	68807804	87	83362											
C6orf58	352999	broad.mit.edu	37	chr6	127901484	127901484	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taatggggatatcatcagacCaagtcaggcttttgccccca	9	11	3	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr6:127901484C>A	uc003qbh.2	+	3	475	c.463C>A	c.(463-465)CAA>AAA	p.Q155K		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	hypothetical protein LOC352999 precursor	155						extracellular region					0				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		ATCATCAGACCAAGTCAGGCT	0.398													A	127901484	C	A	127901484	3	1	156	1	0	0	0	0	1	0	0	0	2367	595	21	5	473	5	C6orf58	6	127901484	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	25594221	127901484	43213583	88	83363											
LAMA2	3908	broad.mit.edu	37	chr6	129381032	129381032	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatgtgacaattaccctggaTttacagcaggtatagttcct	8	8	0	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr6:129381032T>A	uc003qbn.2	+	3	492	c.387T>A	c.(385-387)GAT>GAA	p.D129E	LAMA2_uc003qbo.2_Missense_Mutation_p.D129E	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	129	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTACCCTGGATTTACAGCAGG	0.363													A	129381032	T	A	129381032	3	1	156	1	0	0	0	0	1	0	0	0	8606	1490	52	5	397	5	LAMA2	6	129381032	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	1479548	129381032	41734035	89	83364											
MOXD1	26002	broad.mit.edu	37	chr6	132618968	132618968	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggaacatctcacattcacTggcaggctgaggaccagctt	10	11	2	1	rs144497399		TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr6:132618968T>C	uc003qdf.2	-	11	1734	c.1635A>G	c.(1633-1635)CCA>CCG	p.P545P	MOXD1_uc003qde.2_Silent_p.P477P	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	545	Lumenal (Potential).				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TCACATTCACTGGCAGGCTGA	0.398													C	132618968	T	C	132618968	2	2	156	1	0	0	0	0	0	0	0	1	9720	1567	55	3		3	MOXD1	6	132618968	Silent	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	3237936	132618968	38496099	90	83365											
SYNE1	23345	broad.mit.edu	37	chr6	152469370	152469370	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctcgctccggaggggctgAgcgagcgagagggagagatt	19	9	0	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr6:152469370A>G	uc010kiw.2	-	137	25388	c.24786T>C	c.(24784-24786)GCT>GCC	p.A8262A	SYNE1_uc010kiv.2_Silent_p.A2786A|SYNE1_uc003qos.3_Silent_p.A2786A|SYNE1_uc003qot.3_Silent_p.A8191A|SYNE1_uc003qou.3_Silent_p.A8262A|SYNE1_uc003qop.3_Silent_p.A424A|SYNE1_uc011eez.1_Silent_p.A464A|SYNE1_uc003qoq.3_Silent_p.A464A|SYNE1_uc003qor.3_Silent_p.A1162A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8262	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)		GGAGGGGCTGAGCGAGCGAGA	0.632										HNSCC(10;0.0054)			G	152469370	A	G	152469370	2	3	156	1	0	0	0	0	0	0	0	1	15442	291	11	3		3	SYNE1	6	152469370	Silent	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	19850402	152469370	18645697	91	83366											
SYNE1	23345	broad.mit.edu	37	chr6	152671375	152671375	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcaggtgccaccagtctGccagacatctgcagcagcca	11	14	3	1	rs146547806		TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr6:152671375G>A	uc010kiw.2	-	72	12431	c.11829C>T	c.(11827-11829)GGC>GGT	p.G3943G	SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Silent_p.G3943G|SYNE1_uc010kja.1_Silent_p.G648G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3943	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)		CCACCAGTCTGCCAGACATCT	0.542										HNSCC(10;0.0054)			A	152671375	G	A	152671375	2	1	156	1	0	0	0	0	0	0	0	1	15442	1306	46	2		2	SYNE1	6	152671375	Silent	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	202005	152671375	18443692	92	83367											
TAGAP	117289	broad.mit.edu	37	chr6	159462400	159462400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcaccttaaagaccacagCgaggaggtgcacggggagcc	13	12	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr6:159462400C>T	uc003qrz.2	-	6	795	c.463G>A	c.(463-465)GCT>ACT	p.A155T	TAGAP_uc011eft.1_Missense_Mutation_p.A92T|TAGAP_uc003qsa.2_5'UTR|TAGAP_uc003qsb.2_Missense_Mutation_p.A155T|uc003qsc.2_5'Flank	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN	T-cell activation Rho GTPase-activating protein	155	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AAGACCACAGCGAGGAGGTGC	0.552													T	159462400	C	T	159462400	3	4	156	1	0	0	0	0	1	0	0	0	15534	768	27	1	1770	1	TAGAP	6	159462400	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	6791025	159462400	11652667	93	83368											
C7orf70	84792	broad.mit.edu	37	chr7	6370607	6370607	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctcatttccagtgataatGcctcactttgtgaatttcca	5	10	2	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr7:6370607G>T	uc003spu.2	-	2	647	c.179C>A	c.(178-180)GCA>GAA	p.A60E		NM_001037163	NP_001032240	Q7Z4H9	SIPAR_HUMAN	hypothetical protein LOC84792	60						nucleus					0						CAGTGATAATGCCTCACTTTG	0.507													T	6370607	G	T	6370607	3	4	156	1	0	0	0	0	1	0	0	0	2415	1319	46	5	604	5	C7orf70	7	6370607	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08		6370607	152768056	94	83369											
ICA1	3382	broad.mit.edu	37	chr7	8167572	8167572	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggaaacctgagcctgTctgggccttggggtctggct	16	9	2	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr7:8167572T>C	uc003srm.2	-	13	1328	c.1261A>G	c.(1261-1263)ACA>GCA	p.T421A	ICA1_uc010ktr.2_Missense_Mutation_p.T450A|ICA1_uc003srl.2_Missense_Mutation_p.T409A|ICA1_uc003srn.3_Missense_Mutation_p.T347A|ICA1_uc003srp.3_Missense_Mutation_p.T420A|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.T421A|ICA1_uc003srr.2_Missense_Mutation_p.T420A|ICA1_uc003sro.3_Missense_Mutation_p.T421A	NM_022307	NP_071682	Q05084	ICA69_HUMAN	islet cell autoantigen 1	421					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				central_nervous_system(1)	1		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CCTGAGCCTGTCTGGGCCTTG	0.547													C	8167572	T	C	8167572	3	2	156	1	0	0	0	0	1	0	0	0	7477	1667	58	3	198	3	ICA1	7	8167572	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	1796965	8167572	150971091	95	83370											
AOAH	313	broad.mit.edu	37	chr7	36588291	36588291	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacaccttgtttctagacaAgctgagaaggcatagatgga	10	8	1	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr7:36588291A>G	uc003tfh.3	-	15	1461	c.1060T>C	c.(1060-1062)TTG>CTG	p.L354L	AOAH_uc010kxf.2_Silent_p.L354L|AOAH_uc011kba.1_Silent_p.L322L	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor	354					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			skin(1)	1						TTTCTAGACAAGCTGAGAAGG	0.418													G	36588291	A	G	36588291	2	3	156	1	0	0	0	0	0	0	0	1	726	86	3	3		3	AOAH	7	36588291	Silent	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	28420719	36588291	122550372	96	83371											
ELMO1	9844	broad.mit.edu	37	chr7	37272780	37272780	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacgaaggccgtcagggtgaAggacagcatgtctccaaagc	13	10	2	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr7:37272780A>G	uc003tfk.1	-	8	776	c.469T>C	c.(469-471)TTC>CTC	p.F157L	ELMO1_uc011kbc.1_Missense_Mutation_p.F61L|ELMO1_uc010kxg.1_Missense_Mutation_p.F157L	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	157					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						GTCAGGGTGAAGGACAGCATG	0.498													G	37272780	A	G	37272780	3	3	156	1	0	0	0	0	1	0	0	0	5065	72	3	3	1774	3	ELMO1	7	37272780	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	684489	37272780	121865883	97	83372											
POM121	9883	broad.mit.edu	37	chr7	72416237	72416237	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaggctttgttggtgtTgcacctttcggtaagcagca	12	10	0	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr7:72416237T>G	uc010lam.1	+	15	3888	c.2847T>G	c.(2845-2847)GTT>GTG	p.V949V	POM121_uc003twj.2_Silent_p.V949V	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	1214	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore					0		Lung NSC(55;0.163)				TTGTTGGTGTTGCACCTTTCG	0.632													G	72416237	T	G	72416237	2	3	156	1	0	0	0	0	0	0	0	1	12239	1799	63	5		5	POM121	7	72416237	Silent	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	35143457	72416237	86722426	98	83373											
WBSCR27	155368	broad.mit.edu	37	chr7	73254452	73254453	+	Splice_Site	DEL	TG	TG	-													agcaccgcgtcgaaggtcccTgtgtgtgtgtgggggggggt							TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr7:73254451_73254452CTG>C	uc003tzj.2	-	5	429	c.389_splice	c.e5-1	p.G130_splice	WBSCR27_uc011kfd.1_Intron	NM_152559	NP_689772	Q8N6F8	WBS27_HUMAN	Homo sapiens Williams Beuren syndrome chromosome region 27 (WBSCR27), mRNA.	130										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				TCGAAGGTCCCTGTGTGTGTGT	0.599													-	73254453	TG	-	73254452	8	5	156	1	0	1	0	1	0	0	1	0	17263	1594	55	0	358	0	WBSCR27	7	73254452	Splice_Site	DEL	TG	TCGA-CD-A48A-01A-12D-A24D-08	838215	73254452	85884211	99	83374											
LIMK1	3984	broad.mit.edu	37	chr7	73530169	73530169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgacttcgggctggcgcGtctcatggtggacgagaaga	17	9	1	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr7:73530169G>A	uc003uaa.1	+	13	1613	c.1448G>A	c.(1447-1449)CGT>CAT	p.R483H	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.R449H	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	483	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			stomach(2)|ovary(1)	3		Lung NSC(55;0.137)				GGGCTGGCGCGTCTCATGGTG	0.627													A	73530169	G	A	73530169	3	1	156	1	0	0	0	0	1	0	0	0	8801	1145	40	1	1498	1	LIMK1	7	73530169	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	275717	73530169	85608494	100	83375											
MAGI2	9863	broad.mit.edu	37	chr7	77885499	77885499	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacaatggttaaggtcataAgttcagcttgggtggcccca	11	9	3	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr7:77885499A>C	uc003ugx.2	-	10	2062	c.1808T>G	c.(1807-1809)CTT>CGT	p.L603R	MAGI2_uc003ugy.2_Missense_Mutation_p.L603R|MAGI2_uc010ldx.1_Missense_Mutation_p.L212R|MAGI2_uc010ldy.1_Missense_Mutation_p.L212R|MAGI2_uc011kgr.1_Missense_Mutation_p.L435R|MAGI2_uc011kgs.1_Missense_Mutation_p.L440R	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	603						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TAAGGTCATAAGTTCAGCTTG	0.522													C	77885499	A	C	77885499	3	2	156	1	0	0	0	0	1	0	0	0	9191	72	3	5	2611	5	MAGI2	7	77885499	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	4355330	77885499	81253164	101	83376											
PPP1R9A	55607	broad.mit.edu	37	chr7	94539454	94539454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactgagtcttcaggtgaacGaaccactctcagaagtgcct	9	11	3	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr7:94539454G>A	uc003unp.2	+	2	311	c.29G>A	c.(28-30)CGA>CAA	p.R10Q	PPP1R9A_uc010lfj.2_Missense_Mutation_p.R10Q|PPP1R9A_uc011kif.1_Missense_Mutation_p.R10Q|PPP1R9A_uc003unq.2_Missense_Mutation_p.R10Q|PPP1R9A_uc011kig.1_Missense_Mutation_p.R10Q	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	10	Actin-binding.					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCAGGTGAACGAACCACTCTC	0.413										HNSCC(28;0.073)			A	94539454	G	A	94539454	3	1	156	1	0	0	0	0	1	0	0	0	12378	1058	37	1	31	1	PPP1R9A	7	94539454	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	16653955	94539454	64599209	102	83377											
MUC17	140453	broad.mit.edu	37	chr7	100683595	100683595	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accacttctgctgaagctagTtcttctcctacaactgctga	6	13	3	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr7:100683595T>G	uc003uxp.1	+	3	8951	c.8898T>G	c.(8896-8898)AGT>AGG	p.S2966R	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2966	Extracellular (Potential).|Ser-rich.|48.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGAAGCTAGTTCTTCTCCTA	0.517													G	100683595	T	G	100683595	3	3	156	1	0	0	0	0	1	0	0	0	9974	1722	60	5	8908	5	MUC17	7	100683595	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	6144141	100683595	58455068	103	83378											
MUC17	140453	broad.mit.edu	37	chr7	100685676	100685676	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagcttcaacacttcctgTtgacaccagcacacctgtga	6	15	1	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr7:100685676T>G	uc003uxp.1	+	3	11032	c.10979T>G	c.(10978-10980)GTT>GGT	p.V3660G	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3660	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|58.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					ACACTTCCTGTTGACACCAGC	0.498													G	100685676	T	G	100685676	3	3	156	1	0	0	0	0	1	0	0	0	9974	1725	60	5	10989	5	MUC17	7	100685676	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	2081	100685676	58452987	104	83379											
RELN	5649	broad.mit.edu	37	chr7	103179704	103179704	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgggtgaagcagccatTtcctactatcaagggttgtg	11	10	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr7:103179704T>G	uc003vca.2	-	45	7161	c.7001A>C	c.(7000-7002)AAA>ACA	p.K2334T	RELN_uc010liz.2_Missense_Mutation_p.K2334T	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2334					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGCAGCCATTTCCTACTATC	0.443													G	103179704	T	G	103179704	3	3	156	1	0	0	0	0	1	0	0	0	13220	1841	64	5	3465	5	RELN	7	103179704	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	2494028	103179704	55958959	105	83380											
DOCK4	9732	broad.mit.edu	37	chr7	111580168	111580168	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgtgcatgtttcttacatgTatactttcagaatgaggtca	8	7	3	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr7:111580168T>C	uc003vfx.2	-	11	1243	c.974A>G	c.(973-975)TAC>TGC	p.Y325C	DOCK4_uc003vfy.2_Missense_Mutation_p.Y325C|DOCK4_uc003vga.1_Intron|DOCK4_uc010ljt.1_Missense_Mutation_p.Y325C	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	325					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				TTCTTACATGTATACTTTCAG	0.502													C	111580168	T	C	111580168	3	2	156	1	0	0	0	0	1	0	0	0	4689	1638	57	3	5094	3	DOCK4	7	111580168	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	8400464	111580168	47558495	106	83381											
FLNC	2318	broad.mit.edu	37	chr7	128496648	128496648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggggcgtgattgatgcccGggtgcacacaccctcggggg	17	13	0	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr7:128496648G>A	uc003vnz.3	+	44	7537	c.7328G>A	c.(7327-7329)CGG>CAG	p.R2443Q	FLNC_uc003voa.3_Missense_Mutation_p.R2410Q	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2443	Filamin 22.|Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						ATTGATGCCCGGGTGCACACA	0.672													A	128496648	G	A	128496648	3	1	156	1	0	0	0	0	1	0	0	0	5935	1116	39	1	7502	1	FLNC	7	128496648	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	16916480	128496648	30642015	107	83382											
CLCN1	1180	broad.mit.edu	37	chr7	143013331	143013331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatcccggtcacagcagcGtgggggtgaacaaagctggt	15	10	1	1	rs115379077	byFrequency	TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr7:143013331G>A	uc003wcr.1	+	1	113	c.26G>A	c.(25-27)CGT>CAT	p.R9H	CLCN1_uc011ktc.1_Translation_Start_Site	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	9	Cytoplasmic (By similarity).				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)					TCACAGCAGCGTGGGGGTGAA	0.622													A	143013331	G	A	143013331	3	1	156	1	0	0	0	0	1	0	0	0	3462	1145	40	1	28	1	CLCN1	7	143013331	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	14516683	143013331	16125332	108	83383											
C8orf42	157695	broad.mit.edu	37	chr8	442692	442692	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaaaccaaattgtcccAaaatccagatttcttctctg	3	10	2	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr8:442692A>C	uc003wpd.2	-	3	839	c.265T>G	c.(265-267)TGG>GGG	p.W89G	C8orf42_uc011kwg.1_Missense_Mutation_p.W89G	NM_175075	NP_778250	Q86YL5	CH042_HUMAN	hypothetical protein LOC157695	89											0		Ovarian(12;0.0481)|Colorectal(14;0.0815)|Hepatocellular(245;0.0968)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;5.16e-14)|OV - Ovarian serous cystadenocarcinoma(5;7.35e-07)|BRCA - Breast invasive adenocarcinoma(11;4.17e-06)|COAD - Colon adenocarcinoma(149;0.0255)		AAATTGTCCCAAAATCCAGAT	0.393													C	442692	A	C	442692	3	2	156	1	0	0	0	0	1	0	0	0	2428	130	5	5	296	5	C8orf42	8	442692	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08		442692	145921330	109	83384											
CSMD1	64478	broad.mit.edu	37	chr8	2820743	2820743	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattctgctgtagaacttaCggagacactgggggatctct	11	8	2	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr8:2820743C>T	uc011kwk.1	-	60	9847	c.9457_splice	c.e60+1	p.P3153_splice	CSMD1_uc011kwj.1_Splice_Site_p.P2482_splice|CSMD1_uc010lrg.2_Splice_Site_p.P1044_splice	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor							integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTAGAACTTACGGAGACACTG	0.542													T	2820743	C	T	2820743	5	4	156	1	0	0	0	0	0	0	1	0	3944	550	19	1	1283	1	CSMD1	8	2820743	Splice_Site	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	2378051	2820743	143543279	110	83385											
FGFR1	2260	broad.mit.edu	37	chr8	38275476	38275476	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaacaccacctgcccaaaGcagccctctcccaggggttt	8	18	1	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr8:38275476G>A	uc003xlp.2	-	12	2406	c.1464C>T	c.(1462-1464)TGC>TGT	p.C488C	FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Silent_p.C486C|FGFR1_uc011lbp.1_Silent_p.C399C|FGFR1_uc011lbq.1_Silent_p.C397C|FGFR1_uc010lwk.2_Silent_p.C478C	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	488	ATP.|Cytoplasmic (Potential).|Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CCTGCCCAAAGCAGCCCTCTC	0.542		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						A	38275476	G	A	38275476	2	1	156	1	0	0	0	0	0	0	0	1	5863	963	34	2		2	FGFR1	8	38275476	Silent	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	35454733	38275476	108088546	111	83386											
RGS20	8601	broad.mit.edu	37	chr8	54791938	54791938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctccggcgaccccctcccGaggctccccggaggcgcctg	12	20	1	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr8:54791938G>A	uc003xrp.2	+	2	378	c.286G>A	c.(286-288)GAG>AAG	p.E96K	RGS20_uc003xrq.2_Intron|RGS20_uc010lye.2_Intron|RGS20_uc010lyf.2_Intron|RGS20_uc003xrr.2_5'Flank|RGS20_uc003xrs.2_5'Flank|RGS20_uc003xrt.2_5'Flank	NM_170587	NP_733466	O76081	RGS20_HUMAN	regulator of G-protein signaling 20 isoform a	96					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			ACCCCCTCCCGAGGCTCCCCG	0.726													A	54791938	G	A	54791938	3	1	156	1	0	0	0	0	1	0	0	0	13303	1059	37	1	292	1	RGS20	8	54791938	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	16516462	54791938	91572084	112	83387											
XKR9	389668	broad.mit.edu	37	chr8	71646212	71646212	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtgttgtacttctactattCttaaatgttaagattgcttt	6	5	2	1	rs147423226	byFrequency	TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr8:71646212C>T	uc003xyq.2	+	5	1209	c.675C>T	c.(673-675)TTC>TTT	p.F225F	XKR9_uc010lze.2_Silent_p.F225F|XKR9_uc010lzd.2_Silent_p.F93F	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related	225	Helical; (Potential).					integral to membrane				ovary(1)|skin(1)	2	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TTCTACTATTCTTAAATGTTA	0.294													T	71646212	C	T	71646212	2	4	156	1	0	0	0	0	0	0	0	1	17435	912	32	4		4	XKR9	8	71646212	Silent	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	16854274	71646212	74717810	113	83388											
TRPA1	8989	broad.mit.edu	37	chr8	72981358	72981358	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctgctgagaagaaacTtaacgctttcaatttggttt	7	9	2	2	rs141011241	byFrequency	TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr8:72981358T>G	uc003xza.2	-	3	519	c.344A>C	c.(343-345)AAG>ACG	p.K115T		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	115	Cytoplasmic (Potential).|ANK 2.					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	GAGAAGAAACTTAACGCTTTC	0.413													G	72981358	T	G	72981358	3	3	156	1	0	0	0	0	1	0	0	0	16574	1609	56	5	3115	5	TRPA1	8	72981358	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	1335146	72981358	73382664	114	83389											
SLC26A7	115111	broad.mit.edu	37	chr8	92406218	92406219	+	Frame_Shift_Ins	INS	-	-	T													ctagactcagagaaaccaatINStttttttgaatcggtatctg					rs149495064		TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr8:92406217_92406218A>AT	uc003yez.3	+	17	2124_2125	c.1885_1886A>AT	c.(1885-1887)attfs	p.I629fs	SLC26A7_uc003yex.3_Frame_Shift_Ins_p.I629fs|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Frame_Shift_Ins_p.I629fs	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	629	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGAGAAACCAATTTTTTTTGAA	0.342													T	92406219	-	T	92406218	7	5	156	1	0	1	1	0	0	0	0	0	14522	1493	52	0	1952	0	SLC26A7	8	92406218	Frame_Shift_Ins	INS	-	TCGA-CD-A48A-01A-12D-A24D-08	19424860	92406218	53957804	115	83390											
RIMS2	9699	broad.mit.edu	37	chr8	104948824	104948824	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtaaagaaaacattggaAcccaaatggaaccaaacatt	6	8	0	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr8:104948824A>C	uc003yls.2	+	11	1996	c.1755A>C	c.(1753-1755)GAA>GAC	p.E585D	RIMS2_uc003ylp.2_Missense_Mutation_p.E807D|RIMS2_uc003ylw.2_Missense_Mutation_p.E599D|RIMS2_uc003ylq.2_Missense_Mutation_p.E599D|RIMS2_uc003ylr.2_Missense_Mutation_p.E646D|RIMS2_uc003ylt.2_Missense_Mutation_p.E192D	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	869	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAACATTGGAACCCAAATGGA	0.353										HNSCC(12;0.0054)			C	104948824	A	C	104948824	3	2	156	1	0	0	0	0	1	0	0	0	13368	40	2	5	2597	5	RIMS2	8	104948824	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	12542606	104948824	41415198	116	83391											
TRAPPC9	83696	broad.mit.edu	37	chr8	141407835	141407835	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttccaactcaatcactcccgCattcttatactgcagggtgt	6	13	3	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr8:141407835C>G	uc003yvj.2	-	7	1152	c.1018G>C	c.(1018-1020)GCG>CCG	p.A340P	TRAPPC9_uc003yvh.2_Missense_Mutation_p.A438P|TRAPPC9_uc003yvi.1_Missense_Mutation_p.A331P	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	340					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						ATCACTCCCGCATTCTTATAC	0.428													G	141407835	C	G	141407835	3	3	156	1	0	0	0	0	1	0	0	0	16462	710	25	5	2496	5	TRAPPC9	8	141407835	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	36459011	141407835	4956187	117	83392											
ZC3H3	23144	broad.mit.edu	37	chr8	144550422	144550422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggggcaggtcccatccGttttcttgcaggtgccccgg	14	12	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr8:144550422G>A	uc003yyd.2	-	8	2161	c.2132C>T	c.(2131-2133)ACG>ATG	p.T711M		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	711	C3H1-type 2.				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GGTCCCATCCGTTTTCTTGCA	0.652													A	144550422	G	A	144550422	3	1	156	1	0	0	0	0	1	0	0	0	17566	1145	40	1	734	1	ZC3H3	8	144550422	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	3142587	144550422	1813600	118	83393											
KIAA1432	57589	broad.mit.edu	37	chr9	5720218	5720218	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagatctcctggttgctacTtctgatggacttcttcatct	8	10	5	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr9:5720218T>G	uc003zji.2	+	4	333	c.240T>G	c.(238-240)ACT>ACG	p.T80T	KIAA1432_uc003zjh.2_Silent_p.T80T|KIAA1432_uc003zjl.3_Silent_p.T80T|KIAA1432_uc003zjj.1_5'UTR	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN	connexin 43-interacting protein 150 isoform a	159						integral to membrane					0		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGGTTGCTACTTCTGATGGAC	0.383													G	5720218	T	G	5720218	2	3	156	1	0	0	0	0	0	0	0	1	8233	1596	56	5		5	KIAA1432	9	5720218	Silent	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08		5720218	135493213	119	83394											
KIAA2026	158358	broad.mit.edu	37	chr9	5968162	5968162	+	Frame_Shift_Del	DEL	T	T	-													tcaaaacatctttcaatttcTtttttttctttttcttcttt							TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr9:5968162delT	uc003zjq.3	-	3	2285	c.2069delA	c.(2068-2070)AAGfs	p.K690fs		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	690	Lys-rich.									ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTTCAATTTCTTTTTTTTCTT	0.333													-	5968162	T	-	5968162	7	5	156	1	0	1	0	1	0	0	0	0	8270	1609	56	0	4266	0	KIAA2026	9	5968162	Frame_Shift_Del	DEL	T	TCGA-CD-A48A-01A-12D-A24D-08	247944	5968162	135245269	120	83395											
MPDZ	8777	broad.mit.edu	37	chr9	13126741	13126741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccactgagtgtatcttcttCgctgatagcaatacccaaac	6	12	2	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr9:13126741C>T	uc010mia.1	-	32	4552	c.4495G>A	c.(4495-4497)GAA>AAA	p.E1499K	MPDZ_uc003zky.3_Missense_Mutation_p.E61K|MPDZ_uc010mib.2_Missense_Mutation_p.E204K|MPDZ_uc010mhx.2_Missense_Mutation_p.E321K|MPDZ_uc011lmm.1_Missense_Mutation_p.E358K|MPDZ_uc003zkz.3_Missense_Mutation_p.E192K|MPDZ_uc010mhy.2_Missense_Mutation_p.E1499K|MPDZ_uc010mhz.2_Missense_Mutation_p.E1466K|MPDZ_uc011lmn.1_Missense_Mutation_p.E1466K|MPDZ_uc003zlb.3_Missense_Mutation_p.E1499K	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1499	PDZ 9.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		GTATCTTCTTCGCTGATAGCA	0.413													T	13126741	C	T	13126741	3	4	156	1	0	0	0	0	1	0	0	0	9722	893	31	1	1686	1	MPDZ	9	13126741	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	7158579	13126741	128086690	121	83396											
FREM1	158326	broad.mit.edu	37	chr9	14788940	14788940	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttccatgtccttgatggtgAtttgacagtcaagagcaggg	12	7	1	4			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr9:14788940A>C	uc003zlm.2	-	23	4744	c.4154T>G	c.(4153-4155)ATC>AGC	p.I1385S	FREM1_uc010mic.2_Intron	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	1385	CSPG 10.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		CTTGATGGTGATTTGACAGTC	0.418													C	14788940	A	C	14788940	3	2	156	1	0	0	0	0	1	0	0	0	6044	333	12	5	2495	5	FREM1	9	14788940	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	1662199	14788940	126424491	122	83397											
TOPORS	10210	broad.mit.edu	37	chr9	32542941	32542941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatgagcatctactaacatCgctatcaccagaactgtaag	7	10	2	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr9:32542941C>T	uc003zrb.2	-	3	1749	c.1582G>A	c.(1582-1584)GAT>AAT	p.D528N	TOPORS_uc003zrc.2_Missense_Mutation_p.D461N	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	528	Interaction with p53/TP53.|Required for sumoylation and localization to discrete nuclear foci.|Interaction with SUMO1.|Interaction with TOP1.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CTACTAACATCGCTATCACCA	0.388													T	32542941	C	T	32542941	3	4	156	1	0	0	0	0	1	0	0	0	16367	884	31	1	1559	1	TOPORS	9	32542941	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	17754001	32542941	108670490	123	83398											
ZNF658	26149	broad.mit.edu	37	chr9	40774112	40774112	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaaaggattttctgcatTtcccatgttcatcagaaagg	9	7	3	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr9:40774112T>A	uc004abs.2	-	5	1315	c.1163A>T	c.(1162-1164)AAA>ATA	p.K388I	ZNF658_uc010mmm.1_Missense_Mutation_p.K388I|ZNF658_uc010mmn.1_Missense_Mutation_p.K388I	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	zinc finger protein 658	388	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTTTCTGCATTTCCCATGTTC	0.398													A	40774112	T	A	40774112	3	1	156	1	0	0	0	0	1	0	0	0	18066	1841	64	5	2020	5	ZNF658	9	40774112	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	8231171	40774112	100439319	124	83399											
TRPM3	80036	broad.mit.edu	37	chr9	73233962	73233962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcatggccagctgttcgtCctgcttgtaggactggtcca	11	11	1	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr9:73233962C>T	uc004aid.2	-	16	2387	c.2143G>A	c.(2143-2145)GAC>AAC	p.D715N	TRPM3_uc004ahu.2_Missense_Mutation_p.D545N|TRPM3_uc004ahv.2_Missense_Mutation_p.D517N|TRPM3_uc004ahw.2_Missense_Mutation_p.D587N|TRPM3_uc004ahx.2_Missense_Mutation_p.D574N|TRPM3_uc004ahy.2_Missense_Mutation_p.D577N|TRPM3_uc004ahz.2_Missense_Mutation_p.D564N|TRPM3_uc004aia.2_Missense_Mutation_p.D562N|TRPM3_uc004aib.2_Missense_Mutation_p.D552N|TRPM3_uc004aic.2_Missense_Mutation_p.D715N	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	740	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						AGCTGTTCGTCCTGCTTGTAG	0.552													T	73233962	C	T	73233962	3	4	156	1	0	0	0	0	1	0	0	0	16584	855	30	4	3020	4	TRPM3	9	73233962	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	32459850	73233962	67979469	125	83400											
NFIL3	4783	broad.mit.edu	37	chr9	94172104	94172104	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agttgcatgcacatgcttgaGttcaactggagaatggatgg	13	6	1	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr9:94172104G>C	uc004arh.2	-	2	1308	c.913C>G	c.(913-915)CTC>GTC	p.L305V		NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	305	Necessary for transcriptional repression and sufficient for interaction with DR1.				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						ACATGCTTGAGTTCAACTGGA	0.502													C	94172104	G	C	94172104	3	2	156	1	0	0	0	0	1	0	0	0	10373	1029	36	5	479	5	NFIL3	9	94172104	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	20938142	94172104	47041327	126	83401											
OR13C4	138804	broad.mit.edu	37	chr9	107288559	107288559	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttaatagctttcctgctcAgcaaatattttatagcagct	7	8	1	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr9:107288559A>G	uc011lvn.1	-	1	932	c.932T>C	c.(931-933)CTG>CCG	p.L311P		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	311	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TTTCCTGCTCAGCAAATATTT	0.343													G	107288559	A	G	107288559	3	3	156	1	0	0	0	0	1	0	0	0	10936	188	7	3	26	3	OR13C4	9	107288559	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	13116455	107288559	33924872	127	83402											
TNC	3371	broad.mit.edu	37	chr9	117826111	117826111	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagagaggggttgtgctgaAgtcctgagtgaccccgcgga	17	8	0	5			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr9:117826111A>C	uc004bjj.3	-	12	4086	c.3724T>G	c.(3724-3726)TTC>GTC	p.F1242V	TNC_uc010mvf.2_Missense_Mutation_p.F1242V	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1242	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						GTTGTGCTGAAGTCCTGAGTG	0.532													C	117826111	A	C	117826111	3	2	156	1	0	0	0	0	1	0	0	0	16267	72	3	5	2949	5	TNC	9	117826111	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	10537552	117826111	23387320	128	83403											
OR1J1	347168	broad.mit.edu	37	chr9	125239555	125239555	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccccaatgtgaccataAgaaaccaggatgcacaggaa	10	10	0	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr9:125239555A>G	uc011lyu.1	-	1	651	c.651T>C	c.(649-651)TCT>TCC	p.S217S	OR1J2_uc004bmj.1_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J,	217	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						TGTGACCATAAGAAACCAGGA	0.488													G	125239555	A	G	125239555	2	3	156	1	0	0	0	0	0	0	0	1	10959	59	3	3		3	OR1J1	9	125239555	Silent	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	7413444	125239555	15973876	129	83404											
LCN2	3934	broad.mit.edu	37	chr9	130911881	130911881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggactccacctcagAcctgatcccagccccacctc	7	21	1	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr9:130911881A>G	uc004bto.1	+	1	150	c.77A>G	c.(76-78)GAC>GGC	p.D26G	LCN2_uc010mxq.1_Missense_Mutation_p.D26G|LCN2_uc011map.1_Missense_Mutation_p.D26G	NM_005564	NP_005555	P80188	NGAL_HUMAN	lipocalin 2 precursor	26					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity				0						TCCACCTCAGACCTGATCCCA	0.647													G	130911881	A	G	130911881	3	3	156	1	0	0	0	0	1	0	0	0	8684	275	10	3	79	3	LCN2	9	130911881	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	5672326	130911881	10301550	130	83405											
USP6NL	9712	broad.mit.edu	37	chr10	11505274	11505274	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgggcctggcacgttgtcGtactgcgatgcagtggagcc	15	12	0	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr10:11505274G>A	uc001ikt.3	-	15	1974	c.1653C>T	c.(1651-1653)TAC>TAT	p.Y551Y	USP6NL_uc001iks.1_Silent_p.Y568Y	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	551						intracellular	Rab GTPase activator activity				0						GCACGTTGTCGTACTGCGATG	0.662													A	11505274	G	A	11505274	2	1	156	1	0	0	0	0	0	0	0	1	17084	1140	40	1		1	USP6NL	10	11505274	Silent	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08		11505274	124029473	131	83406											
CUBN	8029	broad.mit.edu	37	chr10	17087075	17087075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaattccagttcaaatgcGctgccgtggctagatttcaa	9	9	2	2	rs112675306	byFrequency	TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr10:17087075G>A	uc001ioo.2	-	25	3655	c.3603C>T	c.(3601-3603)AGC>AGT	p.S1201S		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1201	CUB 7.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTCAAATGCGCTGCCGTGGC	0.448													A	17087075	G	A	17087075	2	1	156	1	0	0	0	0	0	0	0	1	4051	1078	38	1		1	CUBN	10	17087075	Silent	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	5581801	17087075	118447672	132	83407											
SLC39A12	221074	broad.mit.edu	37	chr10	18242152	18242152	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacaagtttaccccataaaCggcaacacactcacctccat	3	15	1	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr10:18242152C>T	uc001ipo.2	+	2	220	c.-53C>T	c.(-55--51)AACGG>AATGG		SLC39A12_uc001ipn.2_Translation_Start_Site|SLC39A12_uc001ipp.2_Translation_Start_Site|SLC39A12_uc010qck.1_Intron	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),						zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						ACCCCATAAACGGCAACACAC	0.433													T	18242152	C	T	18242152	1	4	156	1	0	0	0	0	0	0	0	0	14615	551	19	1		1	SLC39A12	10	18242152	Translation_Start_Site	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	1155077	18242152	117292595	133	83408											
ZNF438	220929	broad.mit.edu	37	chr10	31138579	31138579	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atttttcactggcaacagcaGaaggtttactagatgttatc	8	7	1	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr10:31138579G>C	uc010qdz.1	-	7	1190	c.755C>G	c.(754-756)TCT>TGT	p.S252C	ZNF438_uc001ivn.2_Missense_Mutation_p.S203C|ZNF438_uc010qdy.1_Missense_Mutation_p.S242C|ZNF438_uc001ivo.3_Intron|ZNF438_uc009xlg.2_Missense_Mutation_p.S252C|ZNF438_uc001ivp.3_Missense_Mutation_p.S242C|ZNF438_uc010qea.1_Missense_Mutation_p.S252C|ZNF438_uc010qeb.1_Missense_Mutation_p.S252C|ZNF438_uc010qec.1_Intron	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				GGCAACAGCAGAAGGTTTACT	0.433													C	31138579	G	C	31138579	3	2	156	1	0	0	0	0	1	0	0	0	17907	942	33	5	1739	5	ZNF438	10	31138579	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	12896427	31138579	104396168	134	83409											
DKK1	22943	broad.mit.edu	37	chr10	54076525	54076525	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atacagaaagatcaccatcaAgccagtaattcttctaggct	6	10	4	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr10:54076525A>T	uc001jjr.2	+	4	913	c.759A>T	c.(757-759)CAA>CAT	p.Q253H	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	dickkopf homolog 1 precursor	253	DKK-type Cys-2.				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						ATCACCATCAAGCCAGTAATT	0.408													T	54076525	A	T	54076525	3	4	156	1	0	0	0	0	1	0	0	0	4544	69	3	5	773	5	DKK1	10	54076525	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	22937946	54076525	81458222	135	83410											
PCDH15	65217	broad.mit.edu	37	chr10	56106146	56106146	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatcatctggattatactgAataacatactctatctgtcc	6	9	4	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr10:56106146A>G	uc001jju.1	-	6	968	c.573T>C	c.(571-573)ATT>ATC	p.I191I	PCDH15_uc010qhq.1_Silent_p.I196I|PCDH15_uc010qhr.1_Silent_p.I191I|PCDH15_uc010qhs.1_Silent_p.I196I|PCDH15_uc010qht.1_Silent_p.I191I|PCDH15_uc010qhu.1_Silent_p.I191I|PCDH15_uc001jjv.1_Silent_p.I169I|PCDH15_uc010qhv.1_Silent_p.I191I|PCDH15_uc010qhw.1_Silent_p.I191I|PCDH15_uc010qhx.1_Silent_p.I191I|PCDH15_uc010qhy.1_Silent_p.I196I|PCDH15_uc010qhz.1_Silent_p.I191I|PCDH15_uc010qia.1_Silent_p.I169I|PCDH15_uc010qib.1_Silent_p.I169I|PCDH15_uc001jjw.2_Silent_p.I191I	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	191	Extracellular (Potential).|Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				GATTATACTGAATAACATACT	0.328										HNSCC(58;0.16)			G	56106146	A	G	56106146	2	3	156	1	0	0	0	0	0	0	0	1	11511	242	9	3		3	PCDH15	10	56106146	Silent	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	2029621	56106146	79428601	136	83411											
EXOC6	54536	broad.mit.edu	37	chr10	94816716	94816716	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atggtttgggattggtctacTtacctagctgattatgggca	12	6	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr10:94816716T>G	uc001kig.2	+	21	2271	c.2205T>G	c.(2203-2205)ACT>ACG	p.T735T	EXOC6_uc010qnr.1_Silent_p.T751T|EXOC6_uc001kie.2_Silent_p.T730T|EXOC6_uc009xub.2_Silent_p.T734T|EXOC6_uc009xuc.2_Silent_p.T632T|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_Silent_p.T309T	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN	SEC15-like 1 isoform a	735					protein transport|vesicle docking involved in exocytosis	exocyst				skin(1)	1		Colorectal(252;0.123)				ATTGGTCTACTTACCTAGCTG	0.383													G	94816716	T	G	94816716	2	3	156	1	0	0	0	0	0	0	0	1	5308	1596	56	5		5	EXOC6	10	94816716	Silent	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	38710570	94816716	40718031	137	83412											
C10orf76	79591	broad.mit.edu	37	chr10	103789493	103789493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggactcctcgaatgagtgCgcacagggtctgcagaaatg	13	9	1	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr10:103789493C>T	uc009xwy.1	-	5	418	c.316G>A	c.(316-318)GCA>ACA	p.A106T	C10orf76_uc001kui.2_Missense_Mutation_p.A106T	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	hypothetical protein LOC79591	106						integral to membrane					0		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		CGAATGAGTGCGCACAGGGTC	0.478													T	103789493	C	T	103789493	3	4	156	1	0	0	0	0	1	0	0	0	1616	768	27	1	1841	1	C10orf76	10	103789493	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	8972777	103789493	31745254	138	83413											
OR51D1	390038	broad.mit.edu	37	chr11	4661487	4661487	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagggtgtactgtggccaAgattggactatctgccctga	13	9	1	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr11:4661487A>G	uc010qyk.1	+	1	467	c.467A>G	c.(466-468)AAG>AGG	p.K156R		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D,	156	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTGTGGCCAAGATTGGACTA	0.537													G	4661487	A	G	4661487	3	3	156	1	0	0	0	0	1	0	0	0	11093	72	3	3	469	3	OR51D1	11	4661487	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08		4661487	130345029	139	83414											
OR52D1	390066	broad.mit.edu	37	chr11	5509961	5509961	+	Frame_Shift_Del	DEL	A	A	-													cagattccaacctcagtgatAaccatcttccagacaccttc							TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr11:5509960_5509960TA>T	uc010qzg.2	+	0	46	c.24_24TA>T	c.(22-24)gatfs	p.D8fs	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTCAGTGATAACCATCTTC	0.453													-	5509961	A	-	5509961	7	5	156	1	0	1	0	1	0	0	0	0	11114	362	13	0	27	0	OR52D1	11	5509961	Frame_Shift_Del	DEL	A	TCGA-CD-A48A-01A-12D-A24D-08	848474	5509961	129496555	140	83415											
RBMXL2	27288	broad.mit.edu	37	chr11	7111100	7111100	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cggccactccagtgtccgggAcgactgtcccttgagaggct	13	14	0	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr11:7111100A>T	uc001mfc.2	+	1	936	c.749A>T	c.(748-750)GAC>GTC	p.D250V		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	250	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTGTCCGGGACGACTGTCCC	0.642													T	7111100	A	T	7111100	3	4	156	1	0	0	0	0	1	0	0	0	13154	275	10	5	751	5	RBMXL2	11	7111100	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	1601139	7111100	127895416	141	83416											
C11orf16	56673	broad.mit.edu	37	chr11	8948637	8948637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgacatcctcttctaagaCcactctctgctgctgggctg	8	13	3	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr11:8948637C>T	uc001mhb.3	-	4	533	c.409G>A	c.(409-411)GTC>ATC	p.V137I	C11orf16_uc001mhc.3_Missense_Mutation_p.V137I	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	hypothetical protein LOC56673	137										upper_aerodigestive_tract(1)|pancreas(1)	2				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		TCTTCTAAGACCACTCTCTGC	0.557													T	8948637	C	T	8948637	3	4	156	1	0	0	0	0	1	0	0	0	1631	507	18	4	1006	4	C11orf16	11	8948637	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	1837537	8948637	126057879	142	83417											
PIK3C2A	5286	broad.mit.edu	37	chr11	17190765	17190765	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tagatggaaaagtgggcattCttggattgaagccattttgg	13	4	1	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr11:17190765C>A	uc001mmq.3	-	1	590	c.524G>T	c.(523-525)AGA>ATA	p.R175I	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Intron|PIK3C2A_uc001mmr.3_RNA|PIK3C2A_uc010rcx.1_Missense_Mutation_p.R175I|PIK3C2A_uc009ygv.1_Missense_Mutation_p.R175I	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	175					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	AGTGGGCATTCTTGGATTGAA	0.423													A	17190765	C	A	17190765	3	1	156	1	0	0	0	0	1	0	0	0	11909	913	32	5	4664	5	PIK3C2A	11	17190765	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	8242128	17190765	117815751	143	83418											
KCNA4	3739	broad.mit.edu	37	chr11	30033552	30033552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggcatcaaagctggggCggttcctgtcaaaaaaatac	11	8	2	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr11:30033552C>T	uc001msk.2	-	2	1826	c.674G>A	c.(673-675)CGC>CAC	p.R225H		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	225						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						AAAGCTGGGGCGGTTCCTGTC	0.468													T	30033552	C	T	30033552	3	4	156	1	0	0	0	0	1	0	0	0	8005	768	27	1	1291	1	KCNA4	11	30033552	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	12842787	30033552	104972964	144	83419											
PAMR1	25891	broad.mit.edu	37	chr11	35454060	35454060	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcccgggaaggacacagcCgcgatgcctcctgtctctgc	12	16	1	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr11:35454060C>T	uc001mwg.2	-	11	2050	c.2007G>A	c.(2005-2007)GCG>GCA	p.A669A	PAMR1_uc001mwf.2_Silent_p.A686A|PAMR1_uc010rew.1_Silent_p.A558A|PAMR1_uc010rex.1_Silent_p.A629A	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	669	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						AGGACACAGCCGCGATGCCTC	0.567													T	35454060	C	T	35454060	2	4	156	1	0	0	0	0	0	0	0	1	11413	639	23	1		1	PAMR1	11	35454060	Silent	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	5420508	35454060	99552456	145	83420											
RAG1	5896	broad.mit.edu	37	chr11	36595248	36595248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagatatccagtccatggtCctgtggatggtaaaacccta	11	9	0	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr11:36595248C>T	uc001mwu.3	+	2	518	c.394C>T	c.(394-396)CCT>TCT	p.P132S	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	132	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				AGTCCATGGTCCTGTGGATGG	0.498									Familial_Hemophagocytic_Lymphohistiocytosis				T	36595248	C	T	36595248	3	4	156	1	0	0	0	0	1	0	0	0	13003	855	30	4	396	4	RAG1	11	36595248	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	1141188	36595248	98411268	146	83421											
ACCSL	390110	broad.mit.edu	37	chr11	44072941	44072941	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagggcacctacccgacTtgacccagaaaatgtgagtc	10	13	0	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr11:44072941T>G	uc001mxw.1	+	4	748	c.692T>G	c.(691-693)CTT>CGT	p.L231R	ACCSL_uc009ykr.2_Missense_Mutation_p.L50R	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	231							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						CCTACCCGACTTGACCCAGAA	0.572													G	44072941	T	G	44072941	3	3	156	1	0	0	0	0	1	0	0	0	134	1609	56	5	706	5	ACCSL	11	44072941	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	7477693	44072941	90933575	147	83422											
TRIM48	79097	broad.mit.edu	37	chr11	55033158	55033158	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtggaaaccaccagaaTcagccactggaaggttagtc	11	9	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr11:55033158T>G	uc010rid.1	+	3	628	c.542T>G	c.(541-543)ATC>AGC	p.I181S		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	tripartite motif-containing 48	165						intracellular	zinc ion binding				0						ACCACCAGAATCAGCCACTGG	0.403													G	55033158	T	G	55033158	3	3	156	1	0	0	0	0	1	0	0	0	16520	1435	50	5	552	5	TRIM48	11	55033158	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	10960217	55033158	79973358	148	83423											
OR4A16	81327	broad.mit.edu	37	chr11	55110805	55110805	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atggtgggaaacctcctcatTtgggtgactactattggcag	12	8	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr11:55110805T>G	uc010rie.1	+	1	129	c.129T>G	c.(127-129)ATT>ATG	p.I43M		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3						ACCTCCTCATTTGGGTGACTA	0.438													G	55110805	T	G	55110805	3	3	156	1	0	0	0	0	1	0	0	0	11041	1829	64	5	131	5	OR4A16	11	55110805	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	77647	55110805	79895711	149	83424											
OR4C15	81309	broad.mit.edu	37	chr11	55322161	55322161	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctggatgcgtgcttcTcatctgtcatcaccccaaag	7	15	4	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr11:55322161T>A	uc010rig.1	+	1	379	c.379T>A	c.(379-381)TCA>ACA	p.S127T		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	73	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGCGTGCTTCTCATCTGTCAT	0.458										HNSCC(20;0.049)			A	55322161	T	A	55322161	3	1	156	1	0	0	0	0	1	0	0	0	11048	1551	54	5	381	5	OR4C15	11	55322161	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	211356	55322161	79684355	150	83425											
FAM111A	63901	broad.mit.edu	37	chr11	58919986	58919986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcagcttctcagaatcCtgagtcagagaaaagaaaca	9	9	2	4			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr11:58919986C>T	uc010rkp.1	+	5	1072	c.845C>T	c.(844-846)CCT>CTT	p.P282L	FAM111A_uc010rkq.1_Missense_Mutation_p.P282L|FAM111A_uc010rkr.1_Missense_Mutation_p.P282L|FAM111A_uc001nno.2_Missense_Mutation_p.P282L|FAM111A_uc001nnp.2_Missense_Mutation_p.P282L|FAM111A_uc001nnq.2_Missense_Mutation_p.P282L	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN	hypothetical protein LOC63901	282					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_epithelial(135;0.139)				TCTCAGAATCCTGAGTCAGAG	0.413													T	58919986	C	T	58919986	3	4	156	1	0	0	0	0	1	0	0	0	5399	681	24	4	851	4	FAM111A	11	58919986	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	3597825	58919986	76086530	151	83426											
VEGFB	7423	broad.mit.edu	37	chr11	64003329	64003329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcgctacctgccagcccCgggaggtggtggtgcccttg	15	15	0	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr11:64003329C>T	uc001nyw.2	+	3	188	c.148C>T	c.(148-150)CGG>TGG	p.R50W	VEGFB_uc001nyx.2_Missense_Mutation_p.R50W	NM_003377	NP_003368	P49765	VEGFB_HUMAN	vascular endothelial growth factor B precursor	50					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding				0						CTGCCAGCCCCGGGAGGTGGT	0.622													T	64003329	C	T	64003329	3	4	156	1	0	0	0	0	1	0	0	0	17148	643	23	1	158	1	VEGFB	11	64003329	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	5083343	64003329	71003187	152	83427											
PACS1	55690	broad.mit.edu	37	chr11	65984206	65984206	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatctccggaaagtgaagaAgacccggaggaaactaacct	11	9	1	4	rs12798701		TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr11:65984206A>C	uc001oha.1	+	7	1072	c.938A>C	c.(937-939)AAG>ACG	p.K313T	PACS1_uc001ogz.1_Missense_Mutation_p.K313T	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	313					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding			ovary(6)	6						AAAGTGAAGAAGACCCGGAGG	0.532													C	65984206	A	C	65984206	3	2	156	1	0	0	0	0	1	0	0	0	11372	72	3	5	964	5	PACS1	11	65984206	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	1980877	65984206	69022310	153	83428											
CABP4	57010	broad.mit.edu	37	chr11	67223083	67223083	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctctggggagcagacaggCcccgaggccccggggagcag	18	13	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr11:67223083C>T	uc001olo.2	+	1	266	c.189C>T	c.(187-189)GGC>GGT	p.G63G	GPR152_uc001olm.2_5'Flank|CABP4_uc001oln.2_Intron	NM_145200	NP_660201	P57796	CABP4_HUMAN	calcium binding protein 4	63					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGCAGACAGGCCCCGAGGCCC	0.697													T	67223083	C	T	67223083	2	4	156	1	0	0	0	0	0	0	0	1	2533	726	26	2		2	CABP4	11	67223083	Silent	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	1238877	67223083	67783433	154	83429											
KDM4D	55693	broad.mit.edu	37	chr11	94730807	94730808	+	Frame_Shift_Ins	INS	-	-	A													ggtgtttactcaataccataINSaaaaaaagaaagccatgact					rs142280183	by1000genomes	TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr11:94730806_94730807T>TA	uc021qow.1	+	0	270_271	c.270_271T>TA	c.(268-273)cataaafs	p.H90fs	KDM4D_uc001pfe.3_Frame_Shift_Ins_p.H90fs	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.	90					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTCAATACCATAAAAAAAAGAA	0.455													A	94730808	-	A	94730807	7	5	156	1	0	1	1	0	0	0	0	0	8131	363	13	0	273	0	KDM4D	11	94730807	Frame_Shift_Ins	INS	-	TCGA-CD-A48A-01A-12D-A24D-08	27507724	94730807	40275709	155	83430											
CNTN5	53942	broad.mit.edu	37	chr11	99827705	99827705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgacgaatgctagagtcCttagtcctccaacgccactc	8	14	0	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr11:99827705C>T	uc001pga.2	+	8	1180	c.841C>T	c.(841-843)CTT>TTT	p.L281F	CNTN5_uc009ywv.1_Missense_Mutation_p.L281F|CNTN5_uc001pfz.2_Missense_Mutation_p.L281F|CNTN5_uc001pgb.2_Missense_Mutation_p.L207F	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	281	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGCTAGAGTCCTTAGTCCTCC	0.418													T	99827705	C	T	99827705	3	4	156	1	0	0	0	0	1	0	0	0	3644	681	24	4	863	4	CNTN5	11	99827705	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	5096898	99827705	35178811	156	83431											
ARHGAP20	57569	broad.mit.edu	37	chr11	110451103	110451103	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcccctgagataggtcagcTtgcggttctggtcttctatg	11	10	4	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr11:110451103T>A	uc001pkz.1	-	16	2852	c.2567A>T	c.(2566-2568)AAG>ATG	p.K856M	ARHGAP20_uc001pky.1_Missense_Mutation_p.K833M|ARHGAP20_uc009yyb.1_Missense_Mutation_p.K820M|ARHGAP20_uc001pla.1_Missense_Mutation_p.K820M|ARHGAP20_uc001plb.2_Missense_Mutation_p.K399M	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	856					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		ATAGGTCAGCTTGCGGTTCTG	0.488													A	110451103	T	A	110451103	3	1	156	1	0	0	0	0	1	0	0	0	870	1609	56	5	1012	5	ARHGAP20	11	110451103	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	10623398	110451103	24555413	157	83432											
HTR3B	9177	broad.mit.edu	37	chr11	113815433	113815433	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgaggggacaccgatgctgAcaggcctagagtggaaccca	14	11	0	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr11:113815433A>G	uc001pok.2	+	8	1113	c.1046A>G	c.(1045-1047)GAC>GGC	p.D349G	HTR3B_uc001pol.2_Missense_Mutation_p.D338G	NM_006028	NP_006019	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B	349	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		ACCGATGCTGACAGGCCTAGA	0.532													G	113815433	A	G	113815433	3	3	156	1	0	0	0	0	1	0	0	0	7445	275	10	3	1076	3	HTR3B	11	113815433	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	3364330	113815433	21191083	158	83433											
MLL	4297	broad.mit.edu	37	chr11	118343719	118343719	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaatctattttgcgagaaccGacatttaggtggacttcttt	8	7	2	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr11:118343719G>A	uc001pta.2	+	3	1868	c.1845G>A	c.(1843-1845)CCG>CCA	p.P615P	MLL_uc001ptb.2_Silent_p.P615P|MLL_uc001psz.1_Silent_p.P648P|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	615					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TGCGAGAACCGACATTTAGGT	0.433			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								A	118343719	G	A	118343719	2	1	156	1	0	0	0	0	0	0	0	1	9620	1045	37	1		1	MLL	11	118343719	Silent	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	4528286	118343719	16662797	159	83434											
UPK2	7379	broad.mit.edu	37	chr11	118828883	118828883	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcacggtgctgctctctgtCgccatgttcctgctggtgct	11	13	2	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr11:118828883C>T	uc001puh.2	+	5	530	c.495C>T	c.(493-495)GTC>GTT	p.V165V		NM_006760	NP_006751	O00526	UPK2_HUMAN	uroplakin 2 precursor	165	Helical; (Potential).				cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				skin(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TGCTCTCTGTCGCCATGTTCC	0.607													T	118828883	C	T	118828883	2	4	156	1	0	0	0	0	0	0	0	1	17006	871	31	1		1	UPK2	11	118828883	Silent	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	485164	118828883	16177633	160	83435											
DDX11	1663	broad.mit.edu	37	chr12	31254031	31254031	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctccaaccagccgctggaAttcacgttccagaaaagaga	8	12	2	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr12:31254031A>G	uc001rjt.1	+	20	2270	c.2019A>G	c.(2017-2019)GAA>GAG	p.E673E	DDX11_uc001rjr.1_Silent_p.E673E|DDX11_uc001rjs.1_Silent_p.E673E|DDX11_uc001rju.1_Silent_p.E345E|DDX11_uc001rjv.1_Silent_p.E673E|DDX11_uc001rjw.1_Silent_p.E647E|DDX11_uc009zjn.1_RNA|DDX11_uc009zjo.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	673					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AGCCGCTGGAATTCACGTTCC	0.607										Multiple Myeloma(12;0.14)			G	31254031	A	G	31254031	2	3	156	1	0	0	0	0	0	0	0	1	4343	98	4	3		3	DDX11	12	31254031	Silent	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08		31254031	102597864	161	83436											
CNTN1	1272	broad.mit.edu	37	chr12	41323661	41323661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatcacaatggataaacggcGatttgtgtctcagacaaatg	9	7	2	1	rs4408370		TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr12:41323661G>A	uc001rmm.1	+	7	673	c.560G>A	c.(559-561)CGA>CAA	p.R187Q	CNTN1_uc009zjy.1_Missense_Mutation_p.R187Q|CNTN1_uc001rmn.1_Missense_Mutation_p.R176Q|CNTN1_uc001rmo.2_Missense_Mutation_p.R187Q	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	187	Ig-like C2-type 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GATAAACGGCGATTTGTGTCT	0.368													A	41323661	G	A	41323661	3	1	156	1	0	0	0	0	1	0	0	0	3640	1058	37	1	582	1	CNTN1	12	41323661	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	10069630	41323661	92528234	162	83437											
AMIGO2	347902	broad.mit.edu	37	chr12	47471749	47471749	+	Frame_Shift_Del	DEL	C	C	-													ggctttctataaccagacttCcattgtgaaacacgtaaaag							TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr12:47471748_47471748TC>T	uc001rpm.3	-	2	1693	c.1038_1038GA>A	c.(1036-1038)ggafs	p.G346fs	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Frame_Shift_Del_p.G346fs|AMIGO2_uc001rpl.3_Frame_Shift_Del_p.G346fs|AMIGO2_uc021qxg.1_Frame_Shift_Del_p.G346fs	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	346	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TAACCAGACTTCCATTGTGAA	0.423													-	47471749	C	-	47471749	7	5	156	1	0	1	0	1	0	0	0	0	576	855	30	0	535	0	AMIGO2	12	47471749	Frame_Shift_Del	DEL	C	TCGA-CD-A48A-01A-12D-A24D-08	6148088	47471749	86380146	163	83438											
TMEM194A	23306	broad.mit.edu	37	chr12	57454643	57454643	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctcctctaaagcctttcGggtttctacctctccttgta	7	13	3	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr12:57454643G>A	uc001smy.2	-	8	1112	c.1066C>T	c.(1066-1068)CGA>TGA	p.R356*	TMEM194A_uc001smx.2_Nonsense_Mutation_p.R283*|TMEM194A_uc010sra.1_Nonsense_Mutation_p.R97*	NM_001130963	NP_001124435	O14524	T194A_HUMAN	transmembrane protein 194A isoform a	356						integral to membrane					0						AAAGCCTTTCGGGTTTCTACC	0.478													A	57454643	G	A	57454643	4	1	156	1	0	0	0	0	0	1	0	0	16113	1124	39	1	276	1	TMEM194A	12	57454643	Nonsense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	9982894	57454643	76397252	164	83439											
LRP1	4035	broad.mit.edu	37	chr12	57589508	57589508	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtgcatccccaagcacttCgtgtgtgaccacgaccgtga	10	14	0	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr12:57589508C>T	uc001snd.2	+	53	8971	c.8505C>T	c.(8503-8505)TTC>TTT	p.F2835F		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	2835	LDL-receptor class A 18.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAAGCACTTCGTGTGTGACC	0.622													T	57589508	C	T	57589508	2	4	156	1	0	0	0	0	0	0	0	1	8951	883	31	1		1	LRP1	12	57589508	Silent	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	134865	57589508	76262387	165	83440											
RNF34	80196	broad.mit.edu	37	chr12	121861308	121861308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttacctgcaccaagtgcGgcaagcgcatgagtgagtgt	14	9	0	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr12:121861308G>A	uc001ual.1	+	6	1162	c.1048G>A	c.(1048-1050)GGC>AGC	p.G350S	RNF34_uc001uak.1_Missense_Mutation_p.G351S|RNF34_uc001uam.1_Missense_Mutation_p.G350S	NM_025126	NP_079402	Q969K3	RNF34_HUMAN	ring finger protein 34 isoform 2	350	RING-type.				apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		CACCAAGTGCGGCAAGCGCAT	0.587													A	121861308	G	A	121861308	3	1	156	1	0	0	0	0	1	0	0	0	13489	1116	39	1	1083	1	RNF34	12	121861308	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	64271800	121861308	11990587	166	83441											
DNAH10	196385	broad.mit.edu	37	chr12	124409641	124409641	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtttcccgtccccttgggTtacgataacaacatcacccc	6	16	1	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr12:124409641T>G	uc001uft.3	+	67	11482	c.11457T>G	c.(11455-11457)GGT>GGG	p.G3819G	DNAH10_uc001ufu.3_5'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3819	TPR 4.				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCCCCTTGGGTTACGATAACA	0.478													G	124409641	T	G	124409641	2	3	156	1	0	0	0	0	0	0	0	1	4598	1712	60	5		5	DNAH10	12	124409641	Silent	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	2548333	124409641	9442254	167	83442											
EP400	57634	broad.mit.edu	37	chr12	132446433	132446433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcttaggcagaatgatttGgacattgaagaagaggagga	13	3	1	5			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr12:132446433G>A	uc001ujn.2	+	1	1304	c.1269G>A	c.(1267-1269)TTG>TTA	p.L423L	EP400_uc001ujl.2_Silent_p.L423L|EP400_uc001ujm.2_Silent_p.L423L|EP400_uc001ujj.1_Silent_p.L423L|EP400_uc001ujk.2_Silent_p.L423L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	423					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGAATGATTTGGACATTgaag	0.279													A	132446433	G	A	132446433	2	1	156	1	0	0	0	0	0	0	0	1	5149	1339	47	4		4	EP400	12	132446433	Silent	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	8036792	132446433	1405462	168	83443											
ATP12A	479	broad.mit.edu	37	chr13	25281524	25281524	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcattgtcgggctccccctgCccattggcaccatcaccatt	7	17	2	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr13:25281524C>A	uc001upp.2	+	17	2633	c.2446C>A	c.(2446-2448)CCC>ACC	p.P816T	ATP12A_uc010aaa.2_Missense_Mutation_p.P822T	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	816	Lumenal (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GCTCCCCCTGCCCATTGGCAC	0.512													A	25281524	C	A	25281524	3	1	156	1	0	0	0	0	1	0	0	0	1122	739	26	5	2530	5	ATP12A	13	25281524	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08		25281524	89888354	169	83444											
MTMR6	9107	broad.mit.edu	37	chr13	25825882	25825882	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcctaggatgcagtgttcGatcaaattgatggtacatgt	11	7	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr13:25825882G>A	uc001uqf.3	-	13	1829	c.1510C>T	c.(1510-1512)CGA>TGA	p.R504*	MTMR6_uc001uqe.1_Nonsense_Mutation_p.R504*	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	504						cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)|skin(2)	4		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TGCAGTGTTCGATCAAATTGA	0.284													A	25825882	G	A	25825882	4	1	156	1	0	0	0	0	0	1	0	0	9947	1066	37	1	363	1	MTMR6	13	25825882	Nonsense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	544358	25825882	89343996	170	83445											
RASL11A	387496	broad.mit.edu	37	chr13	27847280	27847280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctacttgtccatccgaccCctttatcagcacatccggaa	6	15	1	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr13:27847280C>T	uc001urd.1	+	4	996	c.378C>T	c.(376-378)CCC>CCT	p.P126P		NM_206827	NP_996563	Q6T310	RSLBA_HUMAN	RAS-like, family 11, member A	126	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(1)	1		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		CCATCCGACCCCTTTATCAGC	0.562													T	27847280	C	T	27847280	2	4	156	1	0	0	0	0	0	0	0	1	13081	610	22	4		4	RASL11A	13	27847280	Silent	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	2021398	27847280	87322598	171	83446											
DCLK1	9201	broad.mit.edu	37	chr13	36521533	36521533	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcatcctggtaacggaacTtctccggtccacatgcaata	7	12	2	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr13:36521533T>G	uc001uvf.2	-	4	1018	c.785A>C	c.(784-786)AAG>ACG	p.K262T		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	262	Doublecortin 2.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GTAACGGAACTTCTCCGGTCC	0.423													G	36521533	T	G	36521533	3	3	156	1	0	0	0	0	1	0	0	0	4291	1609	56	5	1464	5	DCLK1	13	36521533	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	8674253	36521533	78648345	172	83447											
PCDH20	64881	broad.mit.edu	37	chr13	61985723	61985723	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacaaataggttcaccatgaCtgtggagtggagaggctcgg	15	7	1	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr13:61985723C>A	uc001vid.3	-	2	2873	c.2509G>T	c.(2509-2511)GTC>TTC	p.V837F	PCDH20_uc010thj.1_Missense_Mutation_p.V837F	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	810	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTCACCATGACTGTGGAGTGG	0.423													A	61985723	C	A	61985723	3	1	156	1	0	0	0	0	1	0	0	0	11515	565	20	5	350	5	PCDH20	13	61985723	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	25464190	61985723	53184155	173	83448											
LMO7	4008	broad.mit.edu	37	chr13	76408425	76408425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattgctattaacaacaccaAgttttcatataacgattcaa	3	8	2	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr13:76408425A>G	uc001vjv.2	+	14	3189	c.2429A>G	c.(2428-2430)AAG>AGG	p.K810R	LMO7_uc010thv.1_Missense_Mutation_p.K761R|LMO7_uc001vjt.1_Missense_Mutation_p.K709R|LMO7_uc010thw.1_Missense_Mutation_p.K660R|LMO7_uc001vjw.1_Missense_Mutation_p.K716R	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	1095	PDZ.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AACAACACCAAGTTTTCATAT	0.393													G	76408425	A	G	76408425	3	3	156	1	0	0	0	0	1	0	0	0	8855	72	3	3	3354	3	LMO7	13	76408425	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	14422702	76408425	38761453	174	83449											
SLITRK5	26050	broad.mit.edu	37	chr13	88328385	88328385	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtgagctgatctctctaaagGattggttggacagcatctcc	11	9	3	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr13:88328385G>T	uc001vln.2	+	2	961	c.742G>T	c.(742-744)GAT>TAT	p.D248Y	SLITRK5_uc010tic.1_Intron	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	248	LRRCT 1.|Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTCTCTAAAGGATTGGTTGGA	0.517													T	88328385	G	T	88328385	3	4	156	1	0	0	0	0	1	0	0	0	14746	1174	41	5	744	5	SLITRK5	13	88328385	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	11919960	88328385	26841493	175	83450											
DZIP1	22873	broad.mit.edu	37	chr13	96251664	96251664	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattggttccagtatgtgcgAcgagaatgcctgttctatta	10	7	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr13:96251664A>G	uc001vmk.2	-	15	2344	c.1492T>C	c.(1492-1494)TCG>CCG	p.S498P	DZIP1_uc001vmj.2_5'UTR|DZIP1_uc001vml.2_Missense_Mutation_p.S479P	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	498					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AGTATGTGCGACGAGAATGCC	0.343													G	96251664	A	G	96251664	3	3	156	1	0	0	0	0	1	0	0	0	4863	275	10	3	1147	3	DZIP1	13	96251664	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	7923279	96251664	18918214	176	83451											
ZIC2	7546	broad.mit.edu	37	chr13	100637296	100637296	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcacgtccacacctccgataAgccctatctctgcaagatgt	7	15	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr13:100637296A>T	uc001von.2	+	2	1172	c.1172A>T	c.(1171-1173)AAG>ATG	p.K391M		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	391					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACCTCCGATAAGCCCTATCTC	0.627													T	100637296	A	T	100637296	3	4	156	1	0	0	0	0	1	0	0	0	17676	72	3	5	1178	5	ZIC2	13	100637296	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	4385632	100637296	14532582	177	83452											
HEATR5A	25938	broad.mit.edu	37	chr14	31852827	31852827	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactgcttcaggtgaagacTtatgtccagtaagccgttca	9	10	3	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr14:31852827T>C	uc001wrf.3	-	4	694	c.617A>G	c.(616-618)AAG>AGG	p.K206R	HEATR5A_uc010ami.2_Missense_Mutation_p.K104R|HEATR5A_uc001wrg.1_Missense_Mutation_p.K88R|HEATR5A_uc010tpk.1_Missense_Mutation_p.K499R	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	493							binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AGGTGAAGACTTATGTCCAGT	0.478													C	31852827	T	C	31852827	3	2	156	1	0	0	0	0	1	0	0	0	7031	1609	56	3	4752	3	HEATR5A	14	31852827	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08		31852827	75496713	178	83453											
FAM177A1	283635	broad.mit.edu	37	chr14	35546406	35546406	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttacatgcttcgggctgcTacatcaactctctcaggtat	7	11	3	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr14:35546406T>G	uc001wsp.2	+	5	780	c.321T>G	c.(319-321)GCT>GCG	p.A107A	FAM177A1_uc001wsq.2_Silent_p.A130A	NM_001079519	NP_001072987	Q8N128	F177A_HUMAN	hypothetical protein LOC283635 isoform 2	107											0						TTCGGGCTGCTACATCAACTC	0.378													G	35546406	T	G	35546406	2	3	156	1	0	0	0	0	0	0	0	1	5501	1509	53	5		5	FAM177A1	14	35546406	Silent	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	3693579	35546406	71803134	179	83454											
ABHD12B	145447	broad.mit.edu	37	chr14	51352350	51352350	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctgagtgatggtggcTttcatgtcttgtctgttgac	14	6	3	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr14:51352350T>G	uc001wys.2	+	6	520	c.505T>G	c.(505-507)TTT>GTT	p.F169V	ABHD12B_uc001wyq.2_Missense_Mutation_p.F62V|ABHD12B_uc001wyr.2_Missense_Mutation_p.F92V|ABHD12B_uc010any.2_Intron	NM_181533	NP_853511	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B isoform b	169							hydrolase activity			breast(1)	1	all_epithelial(31;0.00481)|Breast(41;0.148)					TGATGGTGGCTTTCATGTCTT	0.428													G	51352350	T	G	51352350	3	3	156	1	0	0	0	0	1	0	0	0	77	1609	56	5	306	5	ABHD12B	14	51352350	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	15805944	51352350	55997190	180	83455											
CGRRF1	10668	broad.mit.edu	37	chr14	55004833	55004833	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccctccaacaattcctcttCagaagaaaaaaacacagaca	3	13	2	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr14:55004833C>A	uc001xay.2	+	6	822	c.731C>A	c.(730-732)TCA>TAA	p.S244*	CGRRF1_uc001xaz.2_RNA	NM_006568	NP_006559	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	244					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			ovary(1)	1						AATTCCTCTTCAGAAGAAAAA	0.338													A	55004833	C	A	55004833	4	1	156	1	0	0	0	0	0	1	0	0	3306	838	29	5	753	5	CGRRF1	14	55004833	Nonsense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	3652483	55004833	52344707	181	83456											
C14orf135	64430	broad.mit.edu	37	chr14	60581727	60581727	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcatgtctgctggaacagCtatagcatcatatttcattc	6	10	4	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr14:60581727C>A	uc001xer.3	+	3	725	c.203C>A	c.(202-204)GCT>GAT	p.A68D	C14orf135_uc001xeq.2_Missense_Mutation_p.A68D	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	302						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		GCTGGAACAGCTATAGCATCA	0.318													A	60581727	C	A	60581727	3	1	156	1	0	0	0	0	1	0	0	0	1745	797	28	5	209	5	C14orf135	14	60581727	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	5576894	60581727	46767813	182	83457											
SIX6	4990	broad.mit.edu	37	chr14	60976191	60976191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaccctggaagagagcggCgatgtggagcgcctgggtcg	19	9	0	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr14:60976191C>T	uc001xfa.3	+	1	254	c.75C>T	c.(73-75)GGC>GGT	p.G25G		NM_007374	NP_031400	O95475	SIX6_HUMAN	SIX homeobox 6	25					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.088)		AAGAGAGCGGCGATGTGGAGC	0.667													T	60976191	C	T	60976191	2	4	156	1	0	0	0	0	0	0	0	1	14351	755	27	1		1	SIX6	14	60976191	Silent	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	394464	60976191	46373349	183	83458											
KCNH5	27133	broad.mit.edu	37	chr14	63175038	63175038	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttgagccctgattccgcaGctccttctgctgcttgaact	9	13	1	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr14:63175038G>T	uc001xfx.2	-	11	2206	c.2155C>A	c.(2155-2157)CTG>ATG	p.L719M	KCNH5_uc001xfy.2_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	719	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGATTCCGCAGCTCCTTCTGC	0.582													T	63175038	G	T	63175038	3	4	156	1	0	0	0	0	1	0	0	0	8035	962	34	5	815	5	KCNH5	14	63175038	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	2198847	63175038	44174502	184	83459											
KCNH5	27133	broad.mit.edu	37	chr14	63511893	63511893	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccaccagccctctcttGccccccggcatcctgggtct	10	19	2	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr14:63511893G>T	uc001xfx.2	-	1	63	c.12C>A	c.(10-12)GGC>GGA	p.G4G	KCNH5_uc001xfy.2_Silent_p.G4G|KCNH5_uc001xfz.1_Intron|KCNH5_uc001xga.2_Intron	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	4	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCCCTCTCTTGCCCCCCGGCA	0.433													T	63511893	G	T	63511893	2	4	156	1	0	0	0	0	0	0	0	1	8035	1306	46	5		5	KCNH5	14	63511893	Silent	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	336855	63511893	43837647	185	83460											
ALDH6A1	4329	broad.mit.edu	37	chr14	74538929	74538929	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gttttctttaataagttgttGatagcggagcaagacctgct	10	6	1	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr14:74538929G>C	uc001xpo.2	-	4	424	c.325C>G	c.(325-327)CAA>GAA	p.Q109E	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010asa.2_Translation_Start_Site|ALDH6A1_uc010tuq.1_Intron	NM_005589	NP_005580	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6A1 precursor	109						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	ATAAGTTGTTGATAGCGGAGC	0.448													C	74538929	G	C	74538929	3	2	156	1	0	0	0	0	1	0	0	0	503	1299	45	5	1318	5	ALDH6A1	14	74538929	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	11027036	74538929	32810611	186	83461											
C14orf115	55237	broad.mit.edu	37	chr14	74824717	74824717	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggccaagttgtacctggagCattgcatctccctgaacaca	10	12	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr14:74824717C>A	uc001xpw.3	+	2	1422	c.1231C>A	c.(1231-1233)CAT>AAT	p.H411N		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	411					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		GTACCTGGAGCATTGCATCTC	0.577													A	74824717	C	A	74824717	3	1	156	1	0	0	0	0	1	0	0	0	1740	710	25	5	1233	5	C14orf115	14	74824717	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	285788	74824717	32524823	187	83462											
GPR132	29933	broad.mit.edu	37	chr14	105518248	105518248	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagcaggtagacggccagcaCgttgccctgcagtacctgca	13	13	0	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr14:105518248C>G	uc001yqd.2	-	4	1125	c.226G>C	c.(226-228)GTG>CTG	p.V76L	GPR132_uc001yqc.2_5'UTR|GPR132_uc001yqe.2_Missense_Mutation_p.V67L	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	76	Cytoplasmic (Potential).				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		ACGGCCAGCACGTTGCCCTGC	0.647													G	105518248	C	G	105518248	3	3	156	1	0	0	0	0	1	0	0	0	6642	536	19	5	920	5	GPR132	14	105518248	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	30693531	105518248	1831292	188	83463											
ZNF770	54989	broad.mit.edu	37	chr15	35275478	35275478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacatcacattcaaatggcTtttgaccagtatgaatgaga	7	8	2	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr15:35275478T>C	uc001ziw.2	-	3	469	c.158A>G	c.(157-159)AAG>AGG	p.K53R		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTCAAATGGCTTTTGACCAGT	0.348													C	35275478	T	C	35275478	3	2	156	1	0	0	0	0	1	0	0	0	18140	1609	56	3	1921	3	ZNF770	15	35275478	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08		35275478	67255914	189	83464											
FAM82A2	55177	broad.mit.edu	37	chr15	41043711	41043711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtggagtcactcctctccCggacaaacggaaaccttcgc	9	15	2	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr15:41043711C>T	uc001zmo.1	-	4	581	c.437G>A	c.(436-438)CGG>CAG	p.R146Q	FAM82A2_uc001zmp.1_Missense_Mutation_p.R146Q|FAM82A2_uc001zmq.1_Missense_Mutation_p.R146Q	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN	family with sequence similarity 82, member A2	146					apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding				0						ACTCCTCTCCCGGACAAACGG	0.587													T	41043711	C	T	41043711	3	4	156	1	0	0	0	0	1	0	0	0	5631	652	23	1	1015	1	FAM82A2	15	41043711	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	5768233	41043711	61487681	190	83465											
EIF3J	8669	broad.mit.edu	37	chr15	44846861	44846861	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaattagcaaaggaaacTtttggtaagacgggattatg	11	5	0	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr15:44846861T>G	uc001ztv.2	+	5	532	c.405T>G	c.(403-405)ACT>ACG	p.T135T	EIF3J_uc010ueg.1_Silent_p.T135T|EIF3J_uc001ztw.2_Silent_p.T86T	NM_003758	NP_003749	O75822	EIF3J_HUMAN	eukaryotic translation initiation factor 3,	135	Potential.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity				0		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		CAAAGGAAACTTTTGGTAAGA	0.373													G	44846861	T	G	44846861	2	3	156	1	0	0	0	0	0	0	0	1	5020	1596	56	5		5	EIF3J	15	44846861	Silent	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	3803150	44846861	57684531	191	83466											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84705590	84705590	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggcacacaggcccttggaAgccctgtacagcagcctgtg	12	13	0	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr15:84705590A>C	uc002bjz.3	+	29	5044	c.4820A>C	c.(4819-4821)AAG>ACG	p.K1607T	ADAMTSL3_uc010bmu.1_Missense_Mutation_p.K1607T	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1607	TSP type-1 10.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGCCCTTGGAAGCCCTGTACA	0.498													C	84705590	A	C	84705590	3	2	156	1	0	0	0	0	1	0	0	0	276	72	3	5	4930	5	ADAMTSL3	15	84705590	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	39858729	84705590	17825802	192	83467											
ALPK3	57538	broad.mit.edu	37	chr15	85383024	85383024	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggtcctggaggtgggcaccAtgactgagtacaagatccac	14	10	0	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr15:85383024A>T	uc002ble.2	+	5	1287	c.1120A>T	c.(1120-1122)ATG>TTG	p.M374L		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	374					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGTGGGCACCATGACTGAGTA	0.592													T	85383024	A	T	85383024	3	4	156	1	0	0	0	0	1	0	0	0	546	217	8	5	1138	5	ALPK3	15	85383024	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	677434	85383024	17148368	193	83468											
FANCI	55215	broad.mit.edu	37	chr15	89828380	89828380	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgccaatgaaactttttgCcttgagatcatggatagttt	9	7	1	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr15:89828380C>T	uc010bnp.1	+	18	1842	c.1752C>T	c.(1750-1752)TGC>TGT	p.C584C	FANCI_uc002bnm.1_Silent_p.C584C|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Silent_p.C405C|FANCI_uc002bnq.1_5'UTR	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	584					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					AAACTTTTTGCCTTGAGATCA	0.418								Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				T	89828380	C	T	89828380	2	4	156	1	0	0	0	0	0	0	0	1	5669	747	26	2		2	FANCI	15	89828380	Silent	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	4445356	89828380	12703012	194	83469											
BLM	641	broad.mit.edu	37	chr15	91306363	91306363	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgctgcactgcttggtgaaGactgttttatcctgatgccg	11	9	0	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr15:91306363G>T	uc002bpr.2	+	8	2147	c.2050G>T	c.(2050-2052)GAC>TAC	p.D684Y	BLM_uc010uqh.1_Missense_Mutation_p.D684Y|BLM_uc010uqi.1_Missense_Mutation_p.D309Y|BLM_uc010bnx.2_Missense_Mutation_p.D684Y|BLM_uc002bps.1_Missense_Mutation_p.D246Y	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	684	Helicase ATP-binding.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GCTTGGTGAAGACTGTTTTAT	0.343			Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				T	91306363	G	T	91306363	3	4	156	1	0	0	0	0	1	0	0	0	1445	942	33	5	2076	5	BLM	15	91306363	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	1477983	91306363	11225029	195	83470											
C16orf63	123811	broad.mit.edu	37	chr16	15978053	15978053	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccctttttttccaaggtgTcctttaaaactgttcgatat	5	11	0	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr16:15978053T>C	uc002dec.1	-	2	43	c.38A>G	c.(37-39)GAC>GGC	p.D13G	C16orf63_uc002ded.1_Missense_Mutation_p.D13G	NM_144600	NP_653201	Q96NB1	FOPNL_HUMAN	hypothetical protein LOC123811	13	Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.				cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding				0						TTCCAAGGTGTCCTTTAAAAC	0.373													C	15978053	T	C	15978053	3	2	156	1	0	0	0	0	1	0	0	0	1826	1667	58	3	502	3	C16orf63	16	15978053	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08		15978053	74376700	196	83471											
ZNF48	197407	broad.mit.edu	37	chr16	30409955	30409955	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtggcaagggcttccgcCgaagctctgacctggtgaaa	14	10	1	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr16:30409955C>T	uc002dya.1	+	2	1443	c.1384C>T	c.(1384-1386)CGA>TGA	p.R462*	ZNF48_uc002dxz.1_Nonsense_Mutation_p.R339*	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	462	Pro-rich.|C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGGCTTCCGCCGAAGCTCTGA	0.637													T	30409955	C	T	30409955	4	4	156	1	0	0	0	0	0	1	0	0	17931	644	23	1	1390	1	ZNF48	16	30409955	Nonsense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	14431902	30409955	59944798	197	83472											
SRCAP	10847	broad.mit.edu	37	chr16	30732561	30732561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctcacggcctcccacgcCaaccttgtccctaaagccaa	6	19	1	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr16:30732561C>T	uc002dze.1	+	21	3690	c.3305C>T	c.(3304-3306)CCA>CTA	p.P1102L	SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Missense_Mutation_p.P959L|SRCAP_uc010bzz.1_Missense_Mutation_p.P672L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1102	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CCTCCCACGCCAACCTTGTCC	0.602													T	30732561	C	T	30732561	3	4	156	1	0	0	0	0	1	0	0	0	15134	594	21	4	3379	4	SRCAP	16	30732561	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	322606	30732561	59622192	198	83473											
HEATR3	55027	broad.mit.edu	37	chr16	50102711	50102711	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatctcagtgcttgtggagGttttgaagtttgtgatgaca	12	4	1	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr16:50102711G>T	uc002efw.2	+	3	494	c.332G>T	c.(331-333)GGT>GTT	p.G111V	HEATR3_uc002efx.2_Missense_Mutation_p.G25V	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	111							binding			ovary(1)|skin(1)	2						GCTTGTGGAGGTTTTGAAGTT	0.383													T	50102711	G	T	50102711	3	4	156	1	0	0	0	0	1	0	0	0	7029	1261	44	5	342	5	HEATR3	16	50102711	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	19370150	50102711	40252042	199	83474											
CHD9	80205	broad.mit.edu	37	chr16	53191212	53191212	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgagccattcacaggacTtgaccccgaggacctccttc	8	15	1	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr16:53191212T>G	uc002ehb.2	+	1	1375	c.1211T>G	c.(1210-1212)CTT>CGT	p.L404R	CHD9_uc002egy.2_Missense_Mutation_p.L404R|CHD9_uc002egz.1_Missense_Mutation_p.L404R|CHD9_uc002eha.1_Missense_Mutation_p.L404R|CHD9_uc002ehc.2_Missense_Mutation_p.L404R	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	404					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				TTCACAGGACTTGACCCCGAG	0.403													G	53191212	T	G	53191212	3	3	156	1	0	0	0	0	1	0	0	0	3332	1609	56	5	1213	5	CHD9	16	53191212	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	3088501	53191212	37163541	200	83475											
EXOC3L	283849	broad.mit.edu	37	chr16	67223060	67223060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggccagctgctctgcccGctcctgctctggccactcag	11	19	3	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr16:67223060G>A	uc002erx.1	-	3	311	c.70C>T	c.(70-72)CGG>TGG	p.R24W	EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_5'UTR|EXOC3L_uc002ery.1_Missense_Mutation_p.R29W|EXOC3L_uc010vje.1_Missense_Mutation_p.R24W	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	24	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		TGCTCTGCCCGCTCCTGCTCT	0.657													A	67223060	G	A	67223060	3	1	156	1	0	0	0	0	1	0	0	0	5304	1086	38	1	2218	1	EXOC3L	16	67223060	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	14031848	67223060	23131693	201	83476											
HYDIN	54768	broad.mit.edu	37	chr16	70977783	70977783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagctcatcagcccggtctCgcctccgacactgggactaa	9	16	3	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr16:70977783C>T	uc002ezr.2	-	42	6726	c.6598G>A	c.(6598-6600)GAG>AAG	p.E2200K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2201										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				AGCCCGGTCTCGCCTCCGACA	0.522													T	70977783	C	T	70977783	3	4	156	1	0	0	0	0	1	0	0	0	7467	893	31	1	8944	1	HYDIN	16	70977783	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	3754723	70977783	19376970	202	83477											
BCMO1	53630	broad.mit.edu	37	chr16	81324114	81324114	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagacatggactgggacacaAaaaagcaggccgcttctgag	12	10	1	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr16:81324114A>C	uc002fgn.1	+	11	1794	c.1576A>C	c.(1576-1578)AAA>CAA	p.K526Q	BCMO1_uc010vnp.1_Missense_Mutation_p.K457Q	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase	526					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity				0						CTGGGACACAAAAAAGCAGGC	0.547													C	81324114	A	C	81324114	3	2	156	1	0	0	0	0	1	0	0	0	1384	15	1	5	1618	5	BCMO1	16	81324114	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	10346331	81324114	9030639	203	83478											
MBTPS1	8720	broad.mit.edu	37	chr16	84126890	84126890	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcacacctgccacgaatgtgCcatggcccaaccctgcagtc	8	17	1	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr16:84126890C>G	uc002fhi.2	-	6	1251	c.749G>C	c.(748-750)GGC>GCC	p.G250A		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	250	Serine protease.|Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2						CACGAATGTGCCATGGCCCAA	0.488													G	84126890	C	G	84126890	3	3	156	1	0	0	0	0	1	0	0	0	9361	739	26	5	2481	5	MBTPS1	16	84126890	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	2802776	84126890	6227863	204	83479											
ITGAE	3682	broad.mit.edu	37	chr17	3661134	3661134	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttctcctggagccgtggcTtgaggtgaagatgctgtctc	13	10	2	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr17:3661134T>G	uc002fwo.3	-	9	985	c.886A>C	c.(886-888)AGC>CGC	p.S296R		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	296	VWFA.|Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GAGCCGTGGCTTGAGGTGAAG	0.527													G	3661134	T	G	3661134	3	3	156	1	0	0	0	0	1	0	0	0	7885	1609	56	5	2745	5	ITGAE	17	3661134	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08		3661134	77534076	205	83480											
ZZEF1	23140	broad.mit.edu	37	chr17	3992174	3992174	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgacgggtgcagaggaacTtcaccatcaaatactggaca	10	11	2	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr17:3992174T>G	uc002fxe.2	-	13	2103	c.2039A>C	c.(2038-2040)AAG>ACG	p.K680T	ZZEF1_uc002fxk.1_Missense_Mutation_p.K680T	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	680							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCAGAGGAACTTCACCATCAA	0.502													G	3992174	T	G	3992174	3	3	156	1	0	0	0	0	1	0	0	0	18252	1609	56	5	7018	5	ZZEF1	17	3992174	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	331040	3992174	77203036	206	83481											
TP53	7157	broad.mit.edu	37	chr17	7579472	7579472	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggtgcaggggccacgGggggagcagcctctggcatt	18	11	1	0	rs1042522	byFrequency	TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr17:7579472G>C	uc002gim.2	-	4	409	c.215C>G	c.(214-216)CCC>CGC	p.P72R	TP53_uc002gig.1_Missense_Mutation_p.P72R|TP53_uc002gih.2_Missense_Mutation_p.P72R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.P72R|TP53_uc010cni.1_Missense_Mutation_p.P72R|TP53_uc002gij.2_Missense_Mutation_p.P72R|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.P33R|TP53_uc010cnk.1_Missense_Mutation_p.P87R	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	72	Interaction with WWOX.|Interaction with HRMT1L2.		P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in a sporadic cancer; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> G (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.R72fs*51(6)|p.G59fs*23(3)|p.R72C(2)|p.R72H(2)|p.E68fs*76(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGGGCCACGGGGGGAGCAGC	0.607		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C	7579472	G	C	7579472	3	2	156	1	0	0	0	0	1	0	0	0	16378	1232	43	5	1087	5	TP53	17	7579472	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	3587298	7579472	73615738	207	83482											
DNAH2	146754	broad.mit.edu	37	chr17	7701486	7701486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccccagtcacacggatcGtgcgggtcattggacagcct	11	15	2	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr17:7701486G>A	uc002giu.1	+	53	8256	c.8242G>A	c.(8242-8244)GTG>ATG	p.V2748M		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2748	AAA 4 (By similarity).|TPR 2.				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CACACGGATCGTGCGGGTCAT	0.637													A	7701486	G	A	7701486	3	1	156	1	0	0	0	0	1	0	0	0	4602	1145	40	1	8452	1	DNAH2	17	7701486	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	122014	7701486	73493724	208	83483											
MYH8	4626	broad.mit.edu	37	chr17	10303844	10303844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctcagccatactgtctgCgtgcttcttccgaagagcag	10	12	3	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr17:10303844C>T	uc002gmm.2	-	27	3693	c.3598G>A	c.(3598-3600)GCA>ACA	p.A1200T	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1200	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						ATACTGTCTGCGTGCTTCTTC	0.547									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				T	10303844	C	T	10303844	3	4	156	1	0	0	0	0	1	0	0	0	10041	768	27	1	2271	1	MYH8	17	10303844	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	2602358	10303844	70891366	209	83484											
MYH3	4621	broad.mit.edu	37	chr17	10550594	10550594	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactcttgatttttccagaAgatctggaacacaaacacag	7	9	2	4			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr17:10550594A>C	uc002gmq.1	-	9	880	c.803T>G	c.(802-804)CTT>CGT	p.L268R		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	268	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TTTTTCCAGAAGATCTGGAAC	0.428													C	10550594	A	C	10550594	3	2	156	1	0	0	0	0	1	0	0	0	10036	72	3	5	5147	5	MYH3	17	10550594	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	246750	10550594	70644616	210	83485											
DNAH9	1770	broad.mit.edu	37	chr17	11711210	11711210	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaccagatccaggacttcaAggtaaaaggtcaggcagctg	11	10	2	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr17:11711210A>G	uc002gne.2	+	44	8650	c.8582A>G	c.(8581-8583)AAG>AGG	p.K2861R	DNAH9_uc010coo.2_Missense_Mutation_p.K2155R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2861	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGGACTTCAAGGTAAAAGGT	0.567													G	11711210	A	G	11711210	3	3	156	1	0	0	0	0	1	0	0	0	4608	86	3	3	8756	3	DNAH9	17	11711210	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	1160616	11711210	69484000	211	83486											
CORO6	84940	broad.mit.edu	37	chr17	27946705	27946705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaggcactggcgataacGttgtcattgtgtggacacca	12	9	2	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr17:27946705G>A	uc002hel.2	-	2	287	c.285C>T	c.(283-285)AAC>AAT	p.N95N	CORO6_uc002hem.2_5'Flank|CORO6_uc002hen.2_5'Flank	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	95	WD 1.				actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0						TGGCGATAACGTTGTCATTGT	0.582													A	27946705	G	A	27946705	2	1	156	1	0	0	0	0	0	0	0	1	3758	1136	40	1		1	CORO6	17	27946705	Silent	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	16235495	27946705	53248505	212	83487											
TNS4	84951	broad.mit.edu	37	chr17	38634897	38634897	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtaatggcgccggaaaaaCaccctaggaggaggcgggga	18	8	0	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr17:38634897C>T	uc010cxb.2	-	11	2078	c.1914G>A	c.(1912-1914)GTG>GTA	p.V638V	TNS4_uc002huu.3_Silent_p.V51V	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	638	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GCCGGAAAAACACCCTAGGAG	0.587													T	38634897	C	T	38634897	2	4	156	1	0	0	0	0	0	0	0	1	16342	465	17	4		4	TNS4	17	38634897	Silent	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	10688192	38634897	42560313	213	83488											
KRT33B	3884	broad.mit.edu	37	chr17	39521764	39521764	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcagcgtccacctccacGttgaggcggtctccaagctg	13	14	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr17:39521764G>A	uc002hwl.2	-	4	675	c.630C>T	c.(628-630)AAC>AAT	p.N210N		NM_002279	NP_002270	Q14525	KT33B_HUMAN	type I hair keratin 3B	210	Linker 12.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)				CCACCTCCACGTTGAGGCGGT	0.522													A	39521764	G	A	39521764	2	1	156	1	0	0	0	0	0	0	0	1	8470	1136	40	1		1	KRT33B	17	39521764	Silent	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	886867	39521764	41673446	214	83489											
PHOSPHO1	162466	broad.mit.edu	37	chr17	47302153	47302153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagatggcgctcaggtcccGcggccgcacgccctgctcgc	14	17	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr17:47302153G>A	uc010wlv.1	-	3	625	c.259C>T	c.(259-261)CGG>TGG	p.R87W	PHOSPHO1_uc002ios.2_Missense_Mutation_p.R112W	NM_178500	NP_848595	Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1 isoform 2	87					regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity				0			Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	CTCAGGTCCCGCGGCCGCACG	0.637													A	47302153	G	A	47302153	3	1	156	1	0	0	0	0	1	0	0	0	11856	1086	38	1	548	1	PHOSPHO1	17	47302153	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	7780389	47302153	33893057	215	83490											
BZRAP1	9256	broad.mit.edu	37	chr17	56388310	56388310	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaggggagcagggtgctggaGaggagagctggggtctccag	21	6	1	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr17:56388310G>T	uc002ivx.3	-	19	4217	c.3346C>A	c.(3346-3348)CTC>ATC	p.L1116I	BZRAP1_uc010dcs.2_Missense_Mutation_p.L1056I|BZRAP1_uc010wnt.1_Missense_Mutation_p.L1116I	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	1116	Pro-rich.					mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGTGCTGGAGAGGAGAGCTG	0.672													T	56388310	G	T	56388310	3	4	156	1	0	0	0	0	1	0	0	0	1577	942	33	5	2279	5	BZRAP1	17	56388310	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	9086157	56388310	24806900	216	83491											
LRRC37A3	374819	broad.mit.edu	37	chr17	62856576	62856576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaaggcttggtgtagacggCgtttcccgctaacttctcag	12	11	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr17:62856576C>T	uc002jey.2	-	11	4219	c.3688G>A	c.(3688-3690)GCC>ACC	p.A1230T	LRRC37A3_uc010wqg.1_Missense_Mutation_p.A348T|LRRC37A3_uc002jex.1_Missense_Mutation_p.A207T|LRRC37A3_uc010wqf.1_Missense_Mutation_p.A268T|LRRC37A3_uc010dek.1_Missense_Mutation_p.A236T	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1230	Extracellular (Potential).					integral to membrane					0						GTGTAGACGGCGTTTCCCGCT	0.567													T	62856576	C	T	62856576	3	4	156	1	0	0	0	0	1	0	0	0	8993	768	27	1	1232	1	LRRC37A3	17	62856576	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	6468266	62856576	18338634	217	83492											
GPS1	2873	broad.mit.edu	37	chr17	80011241	80011241	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtggagaaccccagccTggtacggagcccagtggggg	18	11	0	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr17:80011241T>C	uc002kdl.1	+	2	170	c.125T>C	c.(124-126)CTG>CCG	p.L42P	RFNG_uc002kdh.2_5'Flank|RFNG_uc002kdj.2_5'Flank|GPS1_uc002kdk.1_Missense_Mutation_p.L82P|GPS1_uc010dij.1_Missense_Mutation_p.L82P|GPS1_uc002kdm.1_Missense_Mutation_p.L26P|GPS1_uc002kdn.1_Missense_Mutation_p.L42P|GPS1_uc002kdo.1_Missense_Mutation_p.L42P|GPS1_uc010wvh.1_Missense_Mutation_p.L34P	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	42					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AACCCCAGCCTGGTACGGAGC	0.637													C	80011241	T	C	80011241	3	2	156	1	0	0	0	0	1	0	0	0	6732	1594	55	3	288	3	GPS1	17	80011241	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	17154665	80011241	1183969	218	83493											
C18orf1	753	broad.mit.edu	37	chr18	13645159	13645159	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgcggtccagggacaggttcAcagcgccgtccttcatccag	12	15	2	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr18:13645159A>T	uc002ksa.2	+	7	1092	c.424A>T	c.(424-426)ACA>TCA	p.T142S	C18orf1_uc002ksb.2_Missense_Mutation_p.T124S|C18orf1_uc002kse.2_Missense_Mutation_p.T105S|C18orf1_uc002ksf.2_Missense_Mutation_p.T87S|C18orf1_uc002ksg.1_Missense_Mutation_p.T65S|C18orf1_uc002ksh.1_Missense_Mutation_p.T84S|C18orf1_uc002ksi.1_Missense_Mutation_p.T66S	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	142	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)		GGACAGGTTCACAGCGCCGTC	0.547													T	13645159	A	T	13645159	3	4	156	1	0	0	0	0	1	0	0	0	1894	159	6	5	523	5	C18orf1	18	13645159	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08		13645159	64432089	219	83494											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260338	44260338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgcggcgattcgaagtcGtccagcacgtacttgacgcg	13	12	0	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr18:44260338G>A	uc002lcj.1	-	7	1366	c.798C>T	c.(796-798)GAC>GAT	p.D266D	ST8SIA5_uc002lci.1_Silent_p.D113D|ST8SIA5_uc010xcy.1_Silent_p.D302D|ST8SIA5_uc010xcz.1_Silent_p.D235D	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	266	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						ATTCGAAGTCGTCCAGCACGT	0.612													A	44260338	G	A	44260338	2	1	156	1	0	0	0	0	0	0	0	1	15234	1136	40	1		1	ST8SIA5	18	44260338	Silent	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	30615179	44260338	33816910	220	83495											
POLI	11201	broad.mit.edu	37	chr18	51813737	51813737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactatggtcgtgagagtcGtcagtgccctattccttcac	10	12	2	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr18:51813737G>A	uc002lfj.3	+	8	1222	c.1154G>A	c.(1153-1155)CGT>CAT	p.R385H	POLI_uc010xds.1_Missense_Mutation_p.R306H|POLI_uc002lfk.3_Missense_Mutation_p.R282H|POLI_uc010dpg.2_5'UTR	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	DNA polymerase iota	385	DNA binding.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			ovary(2)|kidney(1)	3				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		CGTGAGAGTCGTCAGTGCCCT	0.403								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	51813737	G	A	51813737	3	1	156	1	0	0	0	0	1	0	0	0	12203	1145	40	1	1184	1	POLI	18	51813737	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	7553399	51813737	26263511	221	83496											
JSRP1	126306	broad.mit.edu	37	chr19	2254273	2254273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttgggcctggtgtccaCactggggccttcagccacct	11	15	2	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr19:2254273C>T	uc002lvi.1	-	3	210	c.175G>A	c.(175-177)GTG>ATG	p.V59M	JSRP1_uc002lvj.1_Missense_Mutation_p.V59M	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	59	Mediates interaction with CACNA1S (By similarity).					sarcoplasmic reticulum membrane				pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGTGTCCACACTGGGGCCT	0.592											OREG0025137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	2254273	C	T	2254273	3	4	156	1	0	0	0	0	1	0	0	0	7966	478	17	4	836	4	JSRP1	19	2254273	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08		2254273	56874710	222	83497											
TLE2	7089	broad.mit.edu	37	chr19	3028804	3028805	+	Splice_Site	INS	-	-	G													ccggactggagcggggtctgINSgggggggtgtgggggaaacg							TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr19:3028803_3028804T>TG	uc010dth.3	-	2	288	c.25_splice	c.e2-1	p.T9_splice	TLE2_uc002lww.3_Splice_Site_p.T9_splice|TLE2_uc010xhc.2_Splice_Site|TLE2_uc010dti.3_Splice_Site_p.T22_splice|TLE2_uc010xhd.1_Splice_Site_p.T9_splice	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	9	Gln-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCGGGGTCTGGGGGGGGTGT	0.624													G	3028805	-	G	3028804	8	5	156	1	0	1	1	0	0	0	1	0	15936	1363	47	0		0	TLE2	19	3028804	Splice_Site	INS	-	TCGA-CD-A48A-01A-12D-A24D-08	774531	3028804	56100179	223	83498											
CREB3L3	84699	broad.mit.edu	37	chr19	4171144	4171144	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtgcagtccaccagcaAgtcagcccagacaggcacct	11	14	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr19:4171144A>C	uc002lzl.2	+	8	1063	c.947A>C	c.(946-948)AAG>ACG	p.K316T	CREB3L3_uc002lzm.2_Missense_Mutation_p.K306T|CREB3L3_uc010xib.1_Missense_Mutation_p.K305T|CREB3L3_uc010xic.1_Missense_Mutation_p.Q271H	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	316	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCACCAGCAAGTCAGCCCAG	0.612													C	4171144	A	C	4171144	3	2	156	1	0	0	0	0	1	0	0	0	3858	72	3	5	977	5	CREB3L3	19	4171144	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	1142340	4171144	54957839	224	83499											
OR2Z1	284383	broad.mit.edu	37	chr19	8841411	8841411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggggatgtgaatcagtcGgtggcctcagacttcattct	13	8	4	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr19:8841411G>A	uc010xkg.1	+	1	21	c.21G>A	c.(19-21)TCG>TCA	p.S7S		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z,	7	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2						TGAATCAGTCGGTGGCCTCAG	0.468													A	8841411	G	A	8841411	2	1	156	1	0	0	0	0	0	0	0	1	11036	1103	39	1		1	OR2Z1	19	8841411	Silent	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	4670267	8841411	50287572	225	83500											
MUC16	94025	broad.mit.edu	37	chr19	9072734	9072734	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgtggacgaggtgatctcCtgggagatgctggtctccct	14	10	3	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr19:9072734C>A	uc002mkp.2	-	3	14916	c.14712G>T	c.(14710-14712)CAG>CAT	p.Q4904H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4906	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGGTGATCTCCTGGGAGATGC	0.483													A	9072734	C	A	9072734	3	1	156	1	0	0	0	0	1	0	0	0	9973	680	24	5	29139	5	MUC16	19	9072734	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	231323	9072734	50056249	226	83501											
RHPN2	85415	broad.mit.edu	37	chr19	33486967	33486967	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgatcaggttcagcaggTcatcctcctcctggtgctgg	12	13	3	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr19:33486967T>G	uc002nuf.2	-	11	1451	c.1385A>C	c.(1384-1386)GAC>GCC	p.D462A	RHPN2_uc010xro.1_Missense_Mutation_p.D311A|RHPN2_uc002nue.2_Missense_Mutation_p.D192A	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	462					signal transduction	perinuclear region of cytoplasm	protein binding			central_nervous_system(5)|ovary(1)	6	Esophageal squamous(110;0.137)					GTTCAGCAGGTCATCCTCCTC	0.617													G	33486967	T	G	33486967	3	3	156	1	0	0	0	0	1	0	0	0	13351	1667	58	5	695	5	RHPN2	19	33486967	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	24414233	33486967	25642016	227	83502											
CHST8	64377	broad.mit.edu	37	chr19	34263466	34263466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaagatgctctttgtccGcgagcccttcgagaggctgg	12	13	1	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr19:34263466G>A	uc002nus.3	+	5	1278	c.773G>A	c.(772-774)CGC>CAC	p.R258H	CHST8_uc002nut.3_Missense_Mutation_p.R258H|CHST8_uc002nuu.2_Missense_Mutation_p.R258H	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	258	PAPS (By similarity).|Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					CTCTTTGTCCGCGAGCCCTTC	0.607													A	34263466	G	A	34263466	3	1	156	1	0	0	0	0	1	0	0	0	3410	1087	38	1	783	1	CHST8	19	34263466	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	776499	34263466	24865517	228	83503											
ZNF540	163255	broad.mit.edu	37	chr19	38102725	38102725	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggttcaacatgggaaaataGattctgatgtgaaacatgat	10	4	2	4			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr19:38102725G>A	uc002ogq.2	+	5	876	c.544G>A	c.(544-546)GAT>AAT	p.D182N	ZNF540_uc002ogu.2_Missense_Mutation_p.D182N|ZNF540_uc010efq.2_Missense_Mutation_p.D150N	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGGAAAATAGATTCTGATGT	0.353													A	38102725	G	A	38102725	3	1	156	1	0	0	0	0	1	0	0	0	17972	942	33	4	558	4	ZNF540	19	38102725	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	3839259	38102725	21026258	229	83504											
CATSPERG	57828	broad.mit.edu	37	chr19	38852366	38852366	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctgcccagtccgcagagAtacacgcgccaggagcgcta	12	15	0	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr19:38852366A>G	uc002oih.3	+	17	2046	c.1959A>G	c.(1957-1959)AGA>AGG	p.R653R	CATSPERG_uc002oig.3_Silent_p.R613R|CATSPERG_uc002oif.3_Silent_p.R293R|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	653	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						GTCCGCAGAGATACACGCGCC	0.667													G	38852366	A	G	38852366	2	3	156	1	0	0	0	0	0	0	0	1	2692	330	12	3		3	CATSPERG	19	38852366	Silent	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	749641	38852366	20276617	230	83505											
RYR1	6261	broad.mit.edu	37	chr19	38956792	38956792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagccacgtgcggctgacgCcggcgcagacgacactggtg	16	13	0	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr19:38956792C>T	uc002oit.2	+	24	3062	c.2932C>T	c.(2932-2934)CCG>TCG	p.P978S	RYR1_uc002oiu.2_Missense_Mutation_p.P978S	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	978	2.|Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCGGCTGACGCCGGCGCAGAC	0.652													T	38956792	C	T	38956792	3	4	156	1	0	0	0	0	1	0	0	0	13768	739	26	2	3026	2	RYR1	19	38956792	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	104426	38956792	20172191	231	83506											
ARHGEF1	9138	broad.mit.edu	37	chr19	42407468	42407468	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcctgcagaagagcccacaGaacgggagaaagtggagctg	15	9	0	4			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr19:42407468G>A	uc002orx.2	+	19	1859	c.1750G>A	c.(1750-1752)GAA>AAA	p.E584K	ARHGEF1_uc002ory.2_Missense_Mutation_p.E551K|ARHGEF1_uc002orz.2_Missense_Mutation_p.E422K|ARHGEF1_uc002osa.2_Missense_Mutation_p.E599K|ARHGEF1_uc002osb.2_Missense_Mutation_p.E566K|ARHGEF1_uc002osc.2_Missense_Mutation_p.E338K|ARHGEF1_uc002osd.2_Missense_Mutation_p.E243K|ARHGEF1_uc002ose.2_Missense_Mutation_p.E28K	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	584	DH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		AGAGCCCACAGAACGGGAGAA	0.592													A	42407468	G	A	42407468	3	1	156	1	0	0	0	0	1	0	0	0	893	943	33	4	1869	4	ARHGEF1	19	42407468	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	3450676	42407468	16721515	232	83507											
BCAM	4059	broad.mit.edu	37	chr19	45322614	45322614	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccatagcccgcagagccAatccccggacggcagggttg	12	16	0	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr19:45322614A>G	uc002ozu.2	+	12	1529	c.1485A>G	c.(1483-1485)CCA>CCG	p.P495P	BCAM_uc002ozt.1_Silent_p.P495P	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	495	Extracellular (Potential).|Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CCGCAGAGCCAATCCCCGGAC	0.657													G	45322614	A	G	45322614	2	3	156	1	0	0	0	0	0	0	0	1	1344	117	5	3		3	BCAM	19	45322614	Silent	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	2915146	45322614	13806369	233	83508											
KCNC3	3748	broad.mit.edu	37	chr19	50827318	50827318	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggagatgaggatgaagaAgagggaggcgaaggccacat	18	4	0	5			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr19:50827318A>G	uc002pru.1	-	2	1187	c.892T>C	c.(892-894)TTC>CTC	p.F298L	KCNC3_uc002prt.1_5'UTR	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Shaw-related voltage-gated potassium channel	298	Helical; Name=Segment S1; (Potential).				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		AGGATGAAGAAGAGGGAGGCG	0.577													G	50827318	A	G	50827318	3	3	156	1	0	0	0	0	1	0	0	0	8016	72	3	3	1393	3	KCNC3	19	50827318	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	5504704	50827318	8301665	234	83509											
SIGLEC10	89790	broad.mit.edu	37	chr19	51914402	51914402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggtgcccttgggcatcCgggcctcaggcctgggtctg	16	14	2	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr19:51914402C>T	uc002pwo.2	-	11	2661	c.2045G>A	c.(2044-2046)CGG>CAG	p.R682Q	SIGLEC10_uc002pwp.2_Missense_Mutation_p.R624Q|SIGLEC10_uc002pwq.2_Missense_Mutation_p.R529Q|SIGLEC10_uc002pwr.2_Missense_Mutation_p.R587Q|SIGLEC10_uc010ycy.1_Missense_Mutation_p.R497Q|SIGLEC10_uc010ycz.1_Missense_Mutation_p.R539Q|SIGLEC10_uc010eow.2_Missense_Mutation_p.R399Q	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	682	Cytoplasmic (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CTTGGGCATCCGGGCCTCAGG	0.572													T	51914402	C	T	51914402	3	4	156	1	0	0	0	0	1	0	0	0	14306	652	23	1	52	1	SIGLEC10	19	51914402	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	1087084	51914402	7214581	235	83510											
BIRC8	112401	broad.mit.edu	37	chr19	53793336	53793336	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttttagttagtgatggtgTtttcttggtagtttgtacca	10	4	2	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr19:53793336T>G	uc002qbk.2	-	1	1540	c.292A>C	c.(292-294)ACA>CCA	p.T98P		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat-containing 8	98					apoptosis		zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(134;0.00304)		AGTGATGGTGTTTTCTTGGTA	0.368													G	53793336	T	G	53793336	3	3	156	1	0	0	0	0	1	0	0	0	1440	1725	60	5	422	5	BIRC8	19	53793336	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	1878934	53793336	5335647	236	83511											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56702324	56702324	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtttgggtcacctgttacGtcaatactcttgtgtagcag	11	8	3	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr19:56702324G>A	uc010ygh.1	-	3	621	c.621C>T	c.(619-621)GAC>GAT	p.D207D		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	207					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						CACCTGTTACGTCAATACTCT	0.507													A	56702324	G	A	56702324	2	1	156	1	0	0	0	0	0	0	0	1	18236	1136	40	1		1	ZSCAN5B	19	56702324	Silent	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	2908988	56702324	2426659	237	83512											
ZNF667	63934	broad.mit.edu	37	chr19	56953232	56953232	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttctccattatgaattcTtagatgcagaataagggttg	8	5	2	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr19:56953232T>G	uc002qnd.2	-	5	1294	c.1132A>C	c.(1132-1134)AGA>CGA	p.R378R	ZNF667_uc010etl.2_Silent_p.R160R|ZNF667_uc002qne.2_Silent_p.R378R|ZNF667_uc010etm.2_Silent_p.R321R	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	378	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTATGAATTCTTAGATGCAGA	0.378													G	56953232	T	G	56953232	2	3	156	1	0	0	0	0	0	0	0	1	18071	1617	56	5		5	ZNF667	19	56953232	Silent	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	250908	56953232	2175751	238	83513											
ZNF135	7694	broad.mit.edu	37	chr19	58578513	58578513	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaatgtcaggaatgcggaAaggcctttagtcacagctca	10	9	3	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr19:58578513A>G	uc010yhq.1	+	5	793	c.697A>G	c.(697-699)AAG>GAG	p.K233E	ZNF135_uc002qre.2_Missense_Mutation_p.K221E|ZNF135_uc002qrd.1_Missense_Mutation_p.K179E|ZNF135_uc002qrf.2_Missense_Mutation_p.K179E|ZNF135_uc002qrg.2_Missense_Mutation_p.K191E|ZNF135_uc010yhr.1_Missense_Mutation_p.K42E	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	233					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GGAATGCGGAAAGGCCTTTAG	0.473													G	58578513	A	G	58578513	3	3	156	1	0	0	0	0	1	0	0	0	17722	15	1	3	864	3	ZNF135	19	58578513	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	1625281	58578513	550470	239	83514											
BMP2	650	broad.mit.edu	37	chr20	6759323	6759323	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaacacagctggtcacagAtaaggccattgctagtaact	9	9	1	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr20:6759323A>G	uc002wmu.1	+	3	1563	c.778A>G	c.(778-780)ATA>GTA	p.I260V		NM_001200	NP_001191	P12643	BMP2_HUMAN	bone morphogenetic protein 2 preproprotein	260					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			ovary(1)|breast(1)	2					Simvastatin(DB00641)	CTGGTCACAGATAAGGCCATT	0.473													G	6759323	A	G	6759323	3	3	156	1	0	0	0	0	1	0	0	0	1459	333	12	3	784	3	BMP2	20	6759323	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08		6759323	56266197	240	83515											
NCOA6	23054	broad.mit.edu	37	chr20	33345129	33345129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaccataggattccgaccCggagagctgacaggctgctg	13	11	0	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr20:33345129C>T	uc002xav.2	-	8	3993	c.1422G>A	c.(1420-1422)CCG>CCA	p.P474P	NCOA6_uc002xaw.2_Silent_p.P474P|NCOA6_uc010gew.1_Silent_p.P431P	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	474	TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						GATTCCGACCCGGAGAGCTGA	0.542													T	33345129	C	T	33345129	2	4	156	1	0	0	0	0	0	0	0	1	10233	639	23	1		1	NCOA6	20	33345129	Silent	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	26585806	33345129	29680391	241	83516											
PHACTR3	116154	broad.mit.edu	37	chr20	58411587	58411587	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agccaaagacctgccgtggaAgagctggagagaagaaatat	13	7	0	4			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr20:58411587A>C	uc002yau.2	+	9	1823	c.1356A>C	c.(1354-1356)GAA>GAC	p.E452D	PHACTR3_uc002yat.2_Missense_Mutation_p.E449D|PHACTR3_uc010zzw.1_Missense_Mutation_p.E411D|PHACTR3_uc002yav.2_Missense_Mutation_p.E411D|PHACTR3_uc002yaw.2_Missense_Mutation_p.E411D|PHACTR3_uc002yax.2_Missense_Mutation_p.E341D|PHACTR3_uc002yay.2_Missense_Mutation_p.E21D	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	452	RPEL 3.|Required for PP1CA binding and inhibition of PP1 activity.|Potential.					nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTGCCGTGGAAGAGCTGGAGA	0.488													C	58411587	A	C	58411587	3	2	156	1	0	0	0	0	1	0	0	0	11811	69	3	5	1390	5	PHACTR3	20	58411587	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	25066458	58411587	4613933	242	83517											
BHLHE23	128408	broad.mit.edu	37	chr20	61637712	61637712	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaggggatgacggctcgcaGcccgtccagcgcgtcgttta	15	12	0	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr20:61637712G>T	uc002yeb.2	-	1	676	c.367C>A	c.(367-369)CTG>ATG	p.L123M		NM_080606	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix domain containing, class	123	Helix-loop-helix motif.				transcription, DNA-dependent	nucleus	DNA binding				0						ACGGCTCGCAGCCCGTCCAGC	0.418													T	61637712	G	T	61637712	3	4	156	1	0	0	0	0	1	0	0	0	1422	962	34	5	314	5	BHLHE23	20	61637712	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	3226125	61637712	1387808	243	83518											
SFRS15	57466	broad.mit.edu	37	chr21	33043943	33043943	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttcctcgggcttcttccttCtctctacgagactctctatc	5	15	4	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr21:33043943C>T	uc002ypd.2	-	20	3639	c.3213G>A	c.(3211-3213)GAG>GAA	p.E1071E	SFRS15_uc002ype.2_Silent_p.E1049E|SFRS15_uc010glu.2_Silent_p.E1056E	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	1071						nucleus	nucleotide binding|RNA binding				0						CTTCTTCCTTCTCTCTACGAG	0.502													T	33043943	C	T	33043943	2	4	156	1	0	0	0	0	0	0	0	1	14171	912	32	4		4	SFRS15	21	33043943	Silent	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08		33043943	15085952	244	83519			1	43		4	3	124	N	C	5.370685e-07
SFRS15	57466	broad.mit.edu	37	chr21	33044004	33044004	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctcgatgcccactagagcgtCtatttctctcttccaagtct	6	14	4	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr21:33044004C>G	uc002ypd.2	-	20	3578	c.3152G>C	c.(3151-3153)AGA>ACA	p.R1051T	SFRS15_uc002ype.2_Missense_Mutation_p.R1029T|SFRS15_uc010glu.2_Missense_Mutation_p.R1036T	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	1051						nucleus	nucleotide binding|RNA binding				0						ACTAGAGCGTCTATTTCTCTC	0.498													G	33044004	C	G	33044004	3	3	156	1	0	0	0	0	1	0	0	0	14171	913	32	5	295	5	SFRS15	21	33044004	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	61	33044004	15085891	245	83520			1	43		4	3	124	N	C	5.370685e-07
SFRS15	57466	broad.mit.edu	37	chr21	33044064	33044064	+	Missense_Mutation	SNP	C	C	T													ggctcctccttccccactctCtcctgtcacggttactatta							TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr21:33044064C>T	uc002ypd.2	-	20	3518	c.3092G>A	c.(3091-3093)AGA>AAA	p.R1031K	SFRS15_uc002ype.2_Missense_Mutation_p.R1009K|SFRS15_uc010glu.2_Missense_Mutation_p.R1016K	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	1031						nucleus	nucleotide binding|RNA binding				0						TCCCCACTCTCTCCTGTCACG	0.483													T	33044064	C	T	33044064	3	4	156	1	0	0	0	0	1	0	0	0	14171	913	32	4	355	4	SFRS15	21	33044064	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	60	33044064	15085831	246	83521	417	2	1	43		4	3	124	N	C	5.370685e-07
SFRS15	57466	broad.mit.edu	37	chr21	33044066	33044066	+	Silent	SNP	C	C	T													ctcctccttccccactctctCctgtcacggttactattatc							TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr21:33044066C>T	uc002ypd.2	-	20	3516	c.3090G>A	c.(3088-3090)AGG>AGA	p.R1030R	SFRS15_uc002ype.2_Silent_p.R1008R|SFRS15_uc010glu.2_Silent_p.R1015R	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	1030						nucleus	nucleotide binding|RNA binding				0						CCCACTCTCTCCTGTCACGGT	0.478													T	33044066	C	T	33044066	2	4	156	1	0	0	0	0	0	0	0	1	14171	854	30	4		4	SFRS15	21	33044066	Silent	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	2	33044066	15085829	247	83522	417	2	1	43		4	3	124	N	C	5.370685e-07
SFRS15	57466	broad.mit.edu	37	chr21	33076187	33076187	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caaactgatgacgagactgtCgcacaattgagtcaattaca	8	9	1	4			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr21:33076187C>A	uc002ypd.2	-	4	638	c.212G>T	c.(211-213)CGA>CTA	p.R71L	SFRS15_uc002ype.2_Missense_Mutation_p.R71L|SFRS15_uc010glu.2_Missense_Mutation_p.R56L|SFRS15_uc002ypf.1_5'Flank|SFRS15_uc002ypg.2_Missense_Mutation_p.R71L	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	71	CID.					nucleus	nucleotide binding|RNA binding				0						ACGAGACTGTCGCACAATTGA	0.358													A	33076187	C	A	33076187	3	1	156	1	0	0	0	0	1	0	0	0	14171	884	31	5	3299	5	SFRS15	21	33076187	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	32121	33076187	15053708	248	83523											
ERG	2078	broad.mit.edu	37	chr21	39755334	39755334	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaggtctttagtagtaAgtgcccagatgagaaggcat	12	9	1	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr21:39755334A>C	uc010gnw.2	-	12	1747	c.1452T>G	c.(1450-1452)ACT>ACG	p.T484T	ERG_uc002yxa.2_Silent_p.T477T|ERG_uc011aek.1_Silent_p.T385T|ERG_uc010gnv.2_Silent_p.T361T|ERG_uc010gnx.2_Silent_p.T460T|ERG_uc011ael.1_Silent_p.T484T|ERG_uc002yxb.2_Silent_p.T460T	NM_001136155	NP_001129627	P11308	ERG_HUMAN	ets-related isoform 4	484					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828		Prostate(19;3.6e-06)				TTTAGTAGTAAGTGCCCAGAT	0.502													C	39755334	A	C	39755334	2	2	156	1	0	0	0	0	0	0	0	1	5222	59	3	5		5	ERG	21	39755334	Silent	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	6679147	39755334	8374561	249	83524											
LRRC3	81543	broad.mit.edu	37	chr21	45876639	45876639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctgcccacagccctgcCggtgccctgaccacgcaggg	12	20	0	1	rs142928276		TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr21:45876639C>T	uc002zfa.2	+	2	405	c.112C>T	c.(112-114)CGG>TGG	p.R38W		NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	leucine-rich repeat-containing 3 precursor	38	LRRNT.					integral to membrane	protein binding				0		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		ACAGCCCTGCCGGTGCCCTGA	0.692													T	45876639	C	T	45876639	3	4	156	1	0	0	0	0	1	0	0	0	8984	643	23	1	114	1	LRRC3	21	45876639	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	6121305	45876639	2253256	250	83525											
ZNF70	7621	broad.mit.edu	37	chr22	24086106	24086106	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtgtgggttttatagtgctCaatgagggctgaccggtgcc	16	7	1	2	rs143352353		TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr22:24086106C>T	uc002zxs.2	-	2	1683	c.1222G>A	c.(1222-1224)GAG>AAG	p.E408K	ZNF70_uc002zxr.1_5'Flank	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	408	C2H2-type 10.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						TTATAGTGCTCAATGAGGGCT	0.577													T	24086106	C	T	24086106	3	4	156	1	0	0	0	0	1	0	0	0	18100	835	29	4	122	4	ZNF70	22	24086106	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08		24086106	27218460	251	83526											
MIOX	55586	broad.mit.edu	37	chr22	50926149	50926149	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctcatgcacacgcaccagaCagtggacttcgtcaggagca	11	13	2	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chr22:50926149C>G	uc003bll.1	+	3	269	c.155C>G	c.(154-156)ACA>AGA	p.T52R	MIOX_uc003blm.1_Missense_Mutation_p.T52R|MIOX_uc003bln.1_Missense_Mutation_p.T52R	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	52					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity				0		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACGCACCAGACAGTGGACTTC	0.667													G	50926149	C	G	50926149	3	3	156	1	0	0	0	0	1	0	0	0	9590	478	17	5	165	5	MIOX	22	50926149	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	26840043	50926149	378417	252	83527											
KAL1	3730	broad.mit.edu	37	chrX	8555989	8555989	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagactgcagttctgtaaatCgtaactcttttctgggcttc	8	10	3	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chrX:8555989C>A	uc004csf.2	-	5	722	c.572G>T	c.(571-573)CGA>CTA	p.R191L		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	191	Fibronectin type-III 1.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						TTCTGTAAATCGTAACTCTTT	0.413													A	8555989	C	A	8555989	3	1	156	1	0	0	0	0	1	0	0	0	7974	884	31	5	1510	5	KAL1	23	8555989	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08		8555989	146714571	253	83528											
RBBP7	5931	broad.mit.edu	37	chrX	16876866	16876866	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatggtgtttttgtagcaatGatgtgaggattctgcggcat	14	4	1	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chrX:16876866G>A	uc004cxt.2	-	4	772	c.414C>T	c.(412-414)ATC>ATT	p.I138I	RBBP7_uc004cxs.1_Silent_p.I182I|RBBP7_uc004cxu.2_Silent_p.I129I|RBBP7_uc010nez.2_Silent_p.I7I	NM_002893	NP_002884	Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	138	WD 2.				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			upper_aerodigestive_tract(1)|ovary(1)	2	Hepatocellular(33;0.0997)					TTGTAGCAATGATGTGAGGAT	0.378													A	16876866	G	A	16876866	2	1	156	1	0	0	0	0	0	0	0	1	13104	1280	45	4		4	RBBP7	23	16876866	Silent	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	8320877	16876866	138393694	254	83529											
CCNB3	85417	broad.mit.edu	37	chrX	50052016	50052016	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcaatccccacccataagTtatcatctttaaagaagaaa	4	10	3	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chrX:50052016T>G	uc004dox.3	+	6	1145	c.847T>G	c.(847-849)TTA>GTA	p.L283V	CCNB3_uc004doy.2_Missense_Mutation_p.L283V|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	283					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					CACCCATAAGTTATCATCTTT	0.413													G	50052016	T	G	50052016	3	3	156	1	0	0	0	0	1	0	0	0	2914	1722	60	5	861	5	CCNB3	23	50052016	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	33175150	50052016	105218544	255	83530											
WNK3	65267	broad.mit.edu	37	chrX	54263946	54263946	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgttctattccaaaagaTgtcatttttgctgactgctg	8	7	2	2			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chrX:54263946T>G	uc004dtd.1	-	20	4351	c.3912A>C	c.(3910-3912)ACA>ACC	p.T1304T	WNK3_uc004dtc.1_Silent_p.T1351T	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1304					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						TTCCAAAAGATGTCATTTTTG	0.373													G	54263946	T	G	54263946	2	3	156	1	0	0	0	0	0	0	0	1	17376	1451	51	5		5	WNK3	23	54263946	Silent	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	4211930	54263946	101006614	256	83531											
PJA1	64219	broad.mit.edu	37	chrX	68382960	68382960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggctggcaatcctttccCgctggctcgtgggtggcctg	14	13	1	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chrX:68382960C>T	uc004dxh.2	-	2	408	c.122G>A	c.(121-123)CGG>CAG	p.R41Q	PJA1_uc011mpi.1_5'UTR|PJA1_uc004dxg.2_Missense_Mutation_p.R41Q|PJA1_uc004dxi.2_5'UTR	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	41							zinc ion binding				0						AATCCTTTCCCGCTGGCTCGT	0.537													T	68382960	C	T	68382960	3	4	156	1	0	0	0	0	1	0	0	0	11961	652	23	1	1813	1	PJA1	23	68382960	Missense_Mutation	SNP	C	TCGA-CD-A48A-01A-12D-A24D-08	14119014	68382960	86887600	257	83532											
PHKA1	5255	broad.mit.edu	37	chrX	71830971	71830971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccactttgccatacagctcGgtaagaagctctctcactgt	7	14	2	1	rs61732499	byFrequency	TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chrX:71830971G>A	uc004eax.3	-	22	2734	c.2433C>T	c.(2431-2433)ACC>ACT	p.T811T	PHKA1_uc004eay.3_Silent_p.T811T|PHKA1_uc011mqi.1_Silent_p.T752T	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	811	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					CATACAGCTCGGTAAGAAGCT	0.433													A	71830971	G	A	71830971	2	1	156	1	0	0	0	0	0	0	0	1	11843	1103	39	1		1	PHKA1	23	71830971	Silent	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	3448011	71830971	83439589	258	83533											
SLC16A2	6567	broad.mit.edu	37	chrX	73745699	73745699	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggccacatcagtgactccAtccctggacttaagaagatc	8	13	1	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chrX:73745699A>T	uc004ebt.2	+	4	1529	c.1363A>T	c.(1363-1365)ATC>TTC	p.I455F	SLC16A2_uc010nlr.1_Missense_Mutation_p.I130F	NM_006517	NP_006508	P36021	MOT8_HUMAN	solute carrier family 16, member 2	381	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|ovary(1)	3					Pyruvic acid(DB00119)	CAGTGACTCCATCCCTGGACT	0.527													T	73745699	A	T	73745699	3	4	156	1	0	0	0	0	1	0	0	0	14408	217	8	5	1377	5	SLC16A2	23	73745699	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	1914728	73745699	81524861	259	83534											
ARMCX1	51309	broad.mit.edu	37	chrX	100808487	100808487	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgtccggagaggcaagTtcaactttccttataaaatt	9	9	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chrX:100808487T>G	uc004ehv.2	+	4	945	c.574T>G	c.(574-576)TTC>GTC	p.F192V	ARMCX1_uc004ehw.2_Missense_Mutation_p.F192V	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	192						integral to membrane	binding			ovary(3)|pancreas(1)	4						GAGAGGCAAGTTCAACTTTCC	0.493													G	100808487	T	G	100808487	3	3	156	1	0	0	0	0	1	0	0	0	959	1725	60	5	576	5	ARMCX1	23	100808487	Missense_Mutation	SNP	T	TCGA-CD-A48A-01A-12D-A24D-08	27062788	100808487	54462073	260	83535											
PAK3	5063	broad.mit.edu	37	chrX	110463599	110463599	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagcatccatttttaaAattagccaagcctctctcca	4	12	1	0			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chrX:110463599A>T	uc004epa.2	+	15	1631	c.1604A>T	c.(1603-1605)AAA>ATA	p.K535I	PAK3_uc010npt.1_Missense_Mutation_p.K520I|PAK3_uc010npu.1_Missense_Mutation_p.K520I|PAK3_uc004eoz.2_Missense_Mutation_p.K520I|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.K556I|PAK3_uc010npw.1_Missense_Mutation_p.K541I	NM_001128173	NP_001121645	O75914	PAK3_HUMAN	p21-activated kinase 3 isoform d	535					multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			lung(6)|ovary(3)|large_intestine(1)	10						CCATTTTTAAAATTAGCCAAG	0.408										TSP Lung(19;0.15)			T	110463599	A	T	110463599	3	4	156	1	0	0	0	0	1	0	0	0	11402	14	1	5	1729	5	PAK3	23	110463599	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	9655112	110463599	44806961	261	83536											
TRPC5	7224	broad.mit.edu	37	chrX	111020004	111020004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actttccttgggcaccactgGaccttggcatggttctgatg	11	11	1	1			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chrX:111020004G>A	uc004epl.1	-	11	3378	c.2459C>T	c.(2458-2460)TCC>TTC	p.S820F		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	820	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						GGCACCACTGGACCTTGGCAT	0.478													A	111020004	G	A	111020004	3	1	156	1	0	0	0	0	1	0	0	0	16579	1174	41	4	466	4	TRPC5	23	111020004	Missense_Mutation	SNP	G	TCGA-CD-A48A-01A-12D-A24D-08	556405	111020004	44250556	262	83537											
MAGEA6	4105	broad.mit.edu	37	chrX	151869966	151869966	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcgactgtgcccctgaggAgaaaatctgggaggagctga	17	8	1	3			TCGA-CD-A48A-01A-12D-A24D-08	TCGA-CD-A48A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f0820b-e38e-48ce-a676-f2cf70c06101	f7e6028e-6fd8-43b1-b881-d923a937ed6c	g.chrX:151869966A>G	uc004ffq.1	+	3	850	c.656A>G	c.(655-657)GAG>GGG	p.E219G	MAGEA6_uc004ffr.1_Missense_Mutation_p.E219G|MAGEA2_uc010nto.2_Intron	NM_005363	NP_005354	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	219	MAGE.						protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)					GCCCCTGAGGAGAAAATCTGG	0.522													G	151869966	A	G	151869966	3	3	156	1	0	0	0	0	1	0	0	0	9170	304	11	3	658	3	MAGEA6	23	151869966	Missense_Mutation	SNP	A	TCGA-CD-A48A-01A-12D-A24D-08	40849962	151869966	3400594	263	83538											
C1orf86	199990	broad.mit.edu	37	chr1	2125333	2125333	+	Frame_Shift_Del	DEL	G	G	-													tgaagacttcagtgggctccGggccgcacctgggctcctgc					rs138779739		TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:2125332_2125332CG>C	uc001aix.2	-	6	976	c.203_203CG>G	c.(202-204)cggfs	p.R68fs	C1orf86_uc001aiv.2_Non-coding_Transcript|C1orf86_uc001aiw.2_Non-coding_Transcript|C1orf86_uc001aiy.3_Frame_Shift_Del_p.P72fs	NM_001146310	NP_001139782	Q6NZ36	CA086_HUMAN	Homo sapiens chromosome 1 open reading frame 86 (C1orf86), transcript variant 1, mRNA.	112										central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CAGTGGGCTCCGGGCCGCACC	0.652													-	2125333	G	-	2125333	7	5	157	1	0	1	0	1	0	0	0	0	2063	1116	39	0	575	0	C1orf86	1	2125333	Frame_Shift_Del	DEL	G	TCGA-CD-A48C-01A-11D-A24D-08		2125333	247125288	1	83539											
ERRFI1	54206	broad.mit.edu	37	chr1	8073678	8073678	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcggtgtgcgcgagttactCggtgacaaaggttctcttgg	14	9	1	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:8073678C>T	uc001aoz.2	-	4	1230	c.981G>A	c.(979-981)CCG>CCA	p.P327P	ERRFI1_uc001apa.1_Silent_p.P252P	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	mitogen-inducible gene 6 protein	327					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			ovary(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GCGAGTTACTCGGTGACAAAG	0.512													T	8073678	C	T	8073678	2	4	157	1	0	0	0	0	0	0	0	1	5244	871	31	1		1	ERRFI1	1	8073678	Silent	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	5948345	8073678	241176943	2	83540											
CLCN6	1185	broad.mit.edu	37	chr1	11894018	11894018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacggcatttctgttccaaGtggcctttttgtgccttctc	8	11	2	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:11894018G>A	uc001ate.3	+	15	1570	c.1457G>A	c.(1456-1458)AGT>AAT	p.S486N	CLCN6_uc010oat.1_Missense_Mutation_p.S202N|CLCN6_uc010oau.1_Missense_Mutation_p.S464N	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	486					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGTTCCAAGTGGCCTTTTT	0.423													A	11894018	G	A	11894018	3	1	157	1	0	0	0	0	1	0	0	0	3467	1029	36	4	1525	4	CLCN6	1	11894018	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	3820340	11894018	237356603	3	83541											
PRAMEF1	65121	broad.mit.edu	37	chr1	12855741	12855741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcagtcttgaacccctcGgagctctgctggagaaaatt	10	11	3	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:12855741G>A	uc001auj.1	+	4	1124	c.1021G>A	c.(1021-1023)GGA>AGA	p.G341R		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	341	LRR 1.										0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAACCCCTCGGAGCTCTGCT	0.532													A	12855741	G	A	12855741	3	1	157	1	0	0	0	0	1	0	0	0	12425	1117	39	1	1031	1	PRAMEF1	1	12855741	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	961723	12855741	236394880	4	83542											
CELA2B	51032	broad.mit.edu	37	chr1	15807638	15807638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtggtaccacacctgcGgagggtccctgatagccaac	12	14	0	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:15807638G>A	uc001awl.2	+	3	200	c.175G>A	c.(175-177)GGA>AGA	p.G59R		NM_015849	NP_056933	P08218	CEL2B_HUMAN	elastase 2B preproprotein	59	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						CCACACCTGCGGAGGGTCCCT	0.622													A	15807638	G	A	15807638	3	1	157	1	0	0	0	0	1	0	0	0	3212	1117	39	1	185	1	CELA2B	1	15807638	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	2951897	15807638	233442983	5	83543											
PADI2	11240	broad.mit.edu	37	chr1	17395561	17395561	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agggcaccatgtgccaccacTtgaaggtgaagggcttcctg	13	11	0	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:17395561T>G	uc001baf.2	-	16	2058	c.1976A>C	c.(1975-1977)AAG>ACG	p.K659T	PADI2_uc010ocm.1_Missense_Mutation_p.K543T	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	659					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GTGCCACCACTTGAAGGTGAA	0.592													G	17395561	T	G	17395561	3	3	157	1	0	0	0	0	1	0	0	0	11378	1609	56	5	25	5	PADI2	1	17395561	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	1587923	17395561	231855060	6	83544											
PADI2	11240	broad.mit.edu	37	chr1	17431375	17431375	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacttcccgccgtggtacctTgtcactgctggcctcggtgc	12	15	1	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:17431375T>G	uc001baf.2	-	2	356	c.274A>C	c.(274-276)AAG>CAG	p.K92Q	PADI2_uc010ocm.1_Missense_Mutation_p.K92Q|PADI2_uc001bag.1_Missense_Mutation_p.K92Q	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	92					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CGTGGTACCTTGTCACTGCTG	0.562													G	17431375	T	G	17431375	3	3	157	1	0	0	0	0	1	0	0	0	11378	1821	63	5	1783	5	PADI2	1	17431375	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	35814	17431375	231819246	7	83545											
ZBTB40	9923	broad.mit.edu	37	chr1	22838278	22838278	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagccaaagaagacagccaGcctggggaacagaatgatca	12	10	1	4			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:22838278G>T	uc001bft.2	+	12	2623	c.2112G>T	c.(2110-2112)CAG>CAT	p.Q704H	ZBTB40_uc001bfu.2_Missense_Mutation_p.Q704H|ZBTB40_uc009vqi.1_Missense_Mutation_p.Q592H|ZBTB40_uc001bfv.1_Missense_Mutation_p.Q333H	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	704					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AAGACAGCCAGCCTGGGGAAC	0.483													T	22838278	G	T	22838278	3	4	157	1	0	0	0	0	1	0	0	0	17539	962	34	5	2150	5	ZBTB40	1	22838278	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	5406903	22838278	226412343	8	83546											
TRIM63	84676	broad.mit.edu	37	chr1	26385077	26385077	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcatacaacgtgtcaaacTtctggctcagctcttccttt	7	12	4	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:26385077T>G	uc001bli.1	-	5	771	c.635A>C	c.(634-636)AAG>ACG	p.K212T		NM_032588	NP_115977	Q969Q1	TRI63_HUMAN	muscle specific ring finger protein 1	212	Interaction with TTN.|Potential.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CGTGTCAAACTTCTGGCTCAG	0.517													G	26385077	T	G	26385077	3	3	157	1	0	0	0	0	1	0	0	0	16535	1609	56	5	446	5	TRIM63	1	26385077	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	3546799	26385077	222865544	9	83547											
TNNI3K	51086	broad.mit.edu	37	chr1	74665404	74665404	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgcaataacagcggctgatGaaaaacaggaacttgcttac	9	8	0	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:74665404G>A	uc001dge.1	+	2	155	c.139G>A	c.(139-141)GAA>AAA	p.E47K	LRRIQ3_uc001dfy.3_5'Flank|LRRIQ3_uc001dfz.3_5'Flank|TNNI3K_uc001dgc.1_Missense_Mutation_p.E47K|TNNI3K_uc001dgd.2_Missense_Mutation_p.E47K|FPGT_uc010oqt.1_5'UTR|FPGT_uc010oqu.1_Missense_Mutation_p.E47K|FPGT_uc001dgb.1_Missense_Mutation_p.E47K|FPGT_uc010oqv.1_Missense_Mutation_p.E47K	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform a	Error:Variant_position_missing_in_Q59H18_after_alignment						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						AGCGGCTGATGAAAAACAGGA	0.398													A	74665404	G	A	74665404	3	1	157	1	0	0	0	0	1	0	0	0	16326	1291	45	4	145	4	TNNI3K	1	74665404	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	48280327	74665404	174585217	10	83548											
GJA8	2703	broad.mit.edu	37	chr1	147380514	147380514	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actaagaagttccggctggaGgggaccctgctgaggaccta	14	10	0	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:147380514G>C	uc001epu.1	+	2	495	c.432G>C	c.(430-432)GAG>GAC	p.E144D		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	144	Cytoplasmic (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					TCCGGCTGGAGGGGACCCTGC	0.617													C	147380514	G	C	147380514	3	2	157	1	0	0	0	0	1	0	0	0	6405	991	35	5	434	5	GJA8	1	147380514	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	72715110	147380514	101870107	11	83549											
TMOD4	29765	broad.mit.edu	37	chr1	151144155	151144155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagctccttgtcattgcttCggaccctctttagtatctcc	6	15	3	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:151144155C>T	uc001exc.3	-	6	762	c.572G>A	c.(571-573)CGA>CAA	p.R191Q	TMOD4_uc001exb.2_Missense_Mutation_p.R55Q|TMOD4_uc001exd.2_RNA|TMOD4_uc010pct.1_Missense_Mutation_p.R122Q	NM_013353	NP_037485	Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	191					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTCATTGCTTCGGACCCTCTT	0.478													T	151144155	C	T	151144155	3	4	157	1	0	0	0	0	1	0	0	0	16233	884	31	1	485	1	TMOD4	1	151144155	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	3763641	151144155	98106466	12	83550											
LCE1F	353137	broad.mit.edu	37	chr1	152748860	152748860	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaccgagatgtcttgccagCagagccagcagcagtgccag	12	14	1	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:152748860C>A	uc010pdv.1	+	1	13	c.13C>A	c.(13-15)CAG>AAG	p.Q5K		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	5					keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTTGCCAGCAGAGCCAGCA	0.358													A	152748860	C	A	152748860	3	1	157	1	0	0	0	0	1	0	0	0	8664	711	25	5	15	5	LCE1F	1	152748860	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	1604705	152748860	96501761	13	83551											
SHC1	6464	broad.mit.edu	37	chr1	154938440	154938440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcatgtcaaacaggtcccGgggtgcactgccattgatag	11	11	2	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:154938440G>A	uc001ffv.2	-	10	1587	c.1366C>T	c.(1366-1368)CGG>TGG	p.R456W	SHC1_uc001ffu.2_5'Flank|SHC1_uc001ffz.1_Missense_Mutation_p.R227W|SHC1_uc001ffw.2_Missense_Mutation_p.R457W|SHC1_uc001ffx.2_Missense_Mutation_p.R347W|SHC1_uc001ffy.2_Missense_Mutation_p.R346W	NM_183001	NP_892113	P29353	SHC1_HUMAN	SHC-transforming protein 1 isoform 1	456	Pro-rich.|CH1.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(1)|skin(1)	2	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AACAGGTCCCGGGGTGCACTG	0.562													A	154938440	G	A	154938440	3	1	157	1	0	0	0	0	1	0	0	0	14270	1115	39	1	397	1	SHC1	1	154938440	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	2189580	154938440	94312181	14	83552											
CD1C	911	broad.mit.edu	37	chr1	158259916	158259916	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggtggtgacaatgcagacgGtaagaacatcgctgtcagct	13	8	1	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:158259916G>C	uc001fru.2	+	1	353	c.61_splice	c.e1+1	p.A21_splice	CD1C_uc001frv.2_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor						antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					AATGCAGACGGTAAGAACATC	0.468													C	158259916	G	C	158259916	5	2	157	1	0	0	0	0	0	0	1	0	2976	1275	44	5	64	5	CD1C	1	158259916	Splice_Site	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	3321476	158259916	90990705	15	83553											
OR6N1	128372	broad.mit.edu	37	chr1	158735671	158735671	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagggcctggtcatagtccaGtgagtagctcttcttcagct	11	11	4	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:158735671G>C	uc010piq.1	-	1	802	c.802C>G	c.(802-804)CTG>GTG	p.L268V		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	268	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TCATAGTCCAGTGAGTAGCTC	0.532													C	158735671	G	C	158735671	3	2	157	1	0	0	0	0	1	0	0	0	11206	1020	36	5	139	5	OR6N1	1	158735671	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	475755	158735671	90514950	16	83554											
F5	2153	broad.mit.edu	37	chr1	169519916	169519916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgacttcatcttcataaggcGagaaggtcactccatgaggg	11	9	4	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:169519916G>A	uc001ggg.1	-	9	1503	c.1358C>T	c.(1357-1359)TCG>TTG	p.S453L	F5_uc010plr.1_RNA	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	453	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTCATAAGGCGAGAAGGTCAC	0.393													A	169519916	G	A	169519916	3	1	157	1	0	0	0	0	1	0	0	0	5348	1059	37	1	5384	1	F5	1	169519916	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	10784245	169519916	79730705	17	83555											
KCNT2	343450	broad.mit.edu	37	chr1	196309469	196309469	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaatttgtttatacttAcccatgctggcaattatgct	5	8	1	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:196309469A>C	uc001gtd.1	-	16	1843	c.1783_splice	c.e16+1	p.G595_splice	KCNT2_uc009wyt.1_Splice_Site|KCNT2_uc001gte.1_Splice_Site_p.G545_splice|KCNT2_uc001gtf.1_Splice_Site_p.G595_splice|KCNT2_uc001gtg.1_Splice_Site|KCNT2_uc009wyu.2_Splice_Site_p.G595_splice|KCNT2_uc001gth.1_Splice_Site_p.G116_splice	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2							voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						GTTTATACTTACCCATGCTGG	0.259													C	196309469	A	C	196309469	5	2	157	1	0	0	0	0	0	0	1	0	8092	405	14	5	1674	5	KCNT2	1	196309469	Splice_Site	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	26789553	196309469	52941152	18	83556											
ASPM	259266	broad.mit.edu	37	chr1	197097721	197097721	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaacaggtaatcccaataaGccaaggtgacgggaaaggtc	11	8	0	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:197097721G>T	uc001gtu.2	-	10	3092	c.2835C>A	c.(2833-2835)GGC>GGA	p.G945G	ASPM_uc001gtv.2_Silent_p.G945G|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	945	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						ATCCCAATAAGCCAAGGTGAC	0.403													T	197097721	G	T	197097721	2	4	157	1	0	0	0	0	0	0	0	1	1056	958	34	5		5	ASPM	1	197097721	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	788252	197097721	52152900	19	83557											
TNNI1	7135	broad.mit.edu	37	chr1	201380578	201380578	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagggcccggagcatggcGtcagccgagacacggactcg	16	13	1	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:201380578G>A	uc010ppq.1	-	7	456	c.363C>T	c.(361-363)GAC>GAT	p.D121D	TNNI1_uc001gwo.1_RNA|TNNI1_uc001gwp.2_Silent_p.D100D	NM_003281	NP_003272	P19237	TNNI1_HUMAN	troponin I, skeletal, slow	121					muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding				0						GGAGCATGGCGTCAGCCGAGA	0.597													A	201380578	G	A	201380578	2	1	157	1	0	0	0	0	0	0	0	1	16323	1136	40	1		1	TNNI1	1	201380578	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	4282857	201380578	47870043	20	83558											
USH2A	7399	broad.mit.edu	37	chr1	216262389	216262389	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagagtgatttggccaaaAgcctgatgcctaatagcaat	9	9	0	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:216262389A>G	uc001hku.1	-	23	5238	c.4851T>C	c.(4849-4851)GCT>GCC	p.A1617A		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1617	Laminin G-like 1.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTGGCCAAAAGCCTGATGCC	0.378										HNSCC(13;0.011)			G	216262389	A	G	216262389	2	3	157	1	0	0	0	0	0	0	0	1	17033	59	3	3		3	USH2A	1	216262389	Silent	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	14881811	216262389	32988232	21	83559											
ESRRG	2104	broad.mit.edu	37	chr1	216737618	216737618	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctctcggtcggccaagtcacAcagtgtagtgagggctttga	13	10	2	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:216737618A>T	uc001hkw.1	-	5	971	c.805T>A	c.(805-807)TGT>AGT	p.C269S	ESRRG_uc001hky.1_Missense_Mutation_p.C246S|ESRRG_uc009xdp.1_Missense_Mutation_p.C246S|ESRRG_uc001hkz.1_Missense_Mutation_p.C207S|ESRRG_uc010puc.1_Missense_Mutation_p.C246S|ESRRG_uc001hla.1_Missense_Mutation_p.C246S|ESRRG_uc001hlb.1_Missense_Mutation_p.C246S|ESRRG_uc010pud.1_Missense_Mutation_p.C77S|ESRRG_uc001hlc.1_Missense_Mutation_p.C246S|ESRRG_uc001hld.1_Missense_Mutation_p.C246S|ESRRG_uc001hkx.1_Missense_Mutation_p.C281S|ESRRG_uc009xdo.1_Missense_Mutation_p.C246S|ESRRG_uc001hle.1_Missense_Mutation_p.C246S	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	269					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GCCAAGTCACACAGTGTAGTG	0.458													T	216737618	A	T	216737618	3	4	157	1	0	0	0	0	1	0	0	0	5262	159	6	5	583	5	ESRRG	1	216737618	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	475229	216737618	32513003	22	83560											
OR11L1	391189	broad.mit.edu	37	chr1	248004253	248004253	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaaggaacttccttttacTtgtactccatagaataccac	4	10	0	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:248004253T>C	uc001idn.1	-	1	946	c.946A>G	c.(946-948)AGT>GGT	p.S316G		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	316	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCCTTTTACTTGTACTCCAT	0.378													C	248004253	T	C	248004253	3	2	157	1	0	0	0	0	1	0	0	0	10930	1609	56	3	26	3	OR11L1	1	248004253	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	31266635	248004253	1246368	23	83561											
OR2AK2	391191	broad.mit.edu	37	chr1	248128748	248128748	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttccaatatggctggataAactctcttctctttgtcgtc	6	10	2	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:248128748A>T	uc010pzd.1	+	1	115	c.115A>T	c.(115-117)AAC>TAC	p.N39Y	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	39	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TGGCTGGATAAACTCTCTTCT	0.398													T	248128748	A	T	248128748	3	4	157	1	0	0	0	0	1	0	0	0	10986	14	1	5	117	5	OR2AK2	1	248128748	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	124495	248128748	1121873	24	83562											
OR2M5	127059	broad.mit.edu	37	chr1	248309140	248309140	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcattcacatgggatctGgagagggtcgtcgcaaagct	13	9	3	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:248309140G>T	uc010pze.1	+	1	691	c.691G>T	c.(691-693)GGA>TGA	p.G231*		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CATGGGATCTGGAGAGGGTCG	0.453													T	248309140	G	T	248309140	4	4	157	1	0	0	0	0	0	1	0	0	11013	1349	47	5	693	5	OR2M5	1	248309140	Nonsense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	180392	248309140	941481	25	83563											
OR2T1	26696	broad.mit.edu	37	chr1	248570106	248570106	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccttgcttcctatgcccgaAtcctgactacagttcagtgc	7	14	1	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:248570106A>T	uc010pzm.1	+	1	811	c.811A>T	c.(811-813)ATC>TTC	p.I271F		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	271	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTATGCCCGAATCCTGACTAC	0.517													T	248570106	A	T	248570106	3	4	157	1	0	0	0	0	1	0	0	0	11016	101	4	5	813	5	OR2T1	1	248570106	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	260966	248570106	680515	26	83564											
TPO	7173	broad.mit.edu	37	chr2	1488374	1488374	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctatctgcacagatcatcAccctgagggattacatcccc	6	15	3	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:1488374A>T	uc002qww.2	+	9	1436	c.1345A>T	c.(1345-1347)ACC>TCC	p.T449S	TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.T449S|TPO_uc002qwr.2_Missense_Mutation_p.T449S|TPO_uc002qwx.2_Missense_Mutation_p.T449S|TPO_uc010yio.1_Missense_Mutation_p.T276S|TPO_uc010yip.1_Missense_Mutation_p.T449S|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	449	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACAGATCATCACCCTGAGGGA	0.582													T	1488374	A	T	1488374	3	4	157	1	0	0	0	0	1	0	0	0	16407	159	6	5	1375	5	TPO	2	1488374	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08		1488374	241710999	27	83565											
CDKL4	344387	broad.mit.edu	37	chr2	39417521	39417521	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tggctggcctgtcaggagctCtgcaaaaacacaaccaatag	10	11	2	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:39417521C>G	uc002rrm.2	-	5	577	c.577G>C	c.(577-579)GAG>CAG	p.E193Q	CDKL4_uc010fal.1_Missense_Mutation_p.E193Q	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	193	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			ovary(1)	1		all_hematologic(82;0.248)				GTCAGGAGCTCTGCAAAAACA	0.438													G	39417521	C	G	39417521	3	3	157	1	0	0	0	0	1	0	0	0	3156	922	32	5	386	5	CDKL4	2	39417521	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	37929147	39417521	203781852	28	83566											
LRPPRC	10128	broad.mit.edu	37	chr2	44171034	44171034	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttcagaatgttaatagcatCtacaatgaagtaacacaaaa	5	7	2	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:44171034C>T	uc002rtr.2	-	23	2355	c.2297_splice	c.e23-1	p.D766_splice	LRPPRC_uc010yob.1_Splice_Site_p.D666_splice	NM_133259	NP_573566	P42704	LPPRC_HUMAN	leucine-rich PPR motif-containing protein						mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			ovary(2)|skin(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTAATAGCATCTACAATGAAG	0.368													T	44171034	C	T	44171034	5	4	157	1	0	0	0	0	0	0	1	0	8965	927	32	4	1952	4	LRPPRC	2	44171034	Splice_Site	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	4753513	44171034	199028339	29	83567											
NRXN1	9378	broad.mit.edu	37	chr2	50765687	50765687	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttattttctggcagccccCccaggtacaactcatcatcc	5	16	3	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:50765687C>A	uc010fbq.2	-	10	3444	c.1967G>T	c.(1966-1968)GGG>GTG	p.G656V	NRXN1_uc002rxb.3_Missense_Mutation_p.G288V|NRXN1_uc002rxe.3_Missense_Mutation_p.G616V|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	220	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGGCAGCCCCCCCAGGTACAA	0.517													A	50765687	C	A	50765687	3	1	157	1	0	0	0	0	1	0	0	0	10665	623	22	5	2995	5	NRXN1	2	50765687	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	6594653	50765687	192433686	30	83568											
ZNF2	7549	broad.mit.edu	37	chr2	95847715	95847715	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcgggaaagcctttagccAgcggtgccggctcacgcggc	15	13	1	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:95847715A>G	uc002suf.2	+	6	1601	c.1139A>G	c.(1138-1140)CAG>CGG	p.Q380R	ZNF2_uc002sug.2_Missense_Mutation_p.Q338R|ZNF2_uc010yue.1_Missense_Mutation_p.Q343R|ZNF2_uc010fhs.2_Missense_Mutation_p.Q301R	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2 isoform a	380	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		GCCTTTAGCCAGCGGTGCCGG	0.507													G	95847715	A	G	95847715	3	3	157	1	0	0	0	0	1	0	0	0	17757	188	7	3	1156	3	ZNF2	2	95847715	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	45082028	95847715	147351658	31	83569											
VWA3B	200403	broad.mit.edu	37	chr2	98797648	98797648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggatataaaagccaaaccGgagaatgagtccgtgcagac	12	8	0	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:98797648G>A	uc002syo.2	+	9	1548	c.1284G>A	c.(1282-1284)CCG>CCA	p.P428P	VWA3B_uc010yvh.1_Silent_p.P278P|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Silent_p.P428P|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Silent_p.P85P	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	428										ovary(3)|large_intestine(2)|skin(1)	6						AAGCCAAACCGGAGAATGAGT	0.572													A	98797648	G	A	98797648	2	1	157	1	0	0	0	0	0	0	0	1	17238	1103	39	1		1	VWA3B	2	98797648	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	2949933	98797648	144401725	32	83570											
CNTNAP5	129684	broad.mit.edu	37	chr2	125405518	125405518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccactgcaggaggtcccGcctgctcaacacgccgggta	11	16	1	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:125405518G>A	uc002tno.2	+	13	2421	c.2057G>A	c.(2056-2058)CGC>CAC	p.R686H	CNTNAP5_uc010flu.2_Missense_Mutation_p.R687H	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	686	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGGAGGTCCCGCCTGCTCAAC	0.587													A	125405518	G	A	125405518	3	1	157	1	0	0	0	0	1	0	0	0	3650	1087	38	1	2107	1	CNTNAP5	2	125405518	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	26607870	125405518	117793855	33	83571											
GYPC	2995	broad.mit.edu	37	chr2	127451461	127451461	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcctgatccagggatgtctgGatggccggatggcagaatgg	17	8	1	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:127451461G>T	uc002tnq.2	+	3	284	c.128G>T	c.(127-129)GGA>GTA	p.G43V	GYPC_uc002tnr.2_Missense_Mutation_p.G24V|GYPC_uc010flv.2_RNA	NM_002101	NP_002092	P04921	GLPC_HUMAN	glycophorin C isoform 1	43	Extracellular.					cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)	1	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		GGGATGTCTGGATGGCCGGAT	0.552													T	127451461	G	T	127451461	3	4	157	1	0	0	0	0	1	0	0	0	6910	1174	41	5	138	5	GYPC	2	127451461	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	2045943	127451461	115747912	34	83572											
NCKAP5	344148	broad.mit.edu	37	chr2	133539527	133539527	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttacctgttcaagagttcCgtcatgaaggtgtctttcgt	10	8	3	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:133539527C>T	uc002ttp.2	-	14	5231	c.4857G>A	c.(4855-4857)ACG>ACA	p.T1619T	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1619							protein binding				0						TCAAGAGTTCCGTCATGAAGG	0.443													T	133539527	C	T	133539527	2	4	157	1	0	0	0	0	0	0	0	1	10223	639	23	1		1	NCKAP5	2	133539527	Silent	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	6088066	133539527	109659846	35	83573											
NCKAP5	344148	broad.mit.edu	37	chr2	133541938	133541938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcttcgggctccattaGttttgatttctgaggtgaag	14	6	1	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:133541938G>A	uc002ttp.2	-	14	2820	c.2446C>T	c.(2446-2448)CTA>TTA	p.L816L	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	816							protein binding				0						GGCTCCATTAGTTTTGATTTC	0.478													A	133541938	G	A	133541938	2	1	157	1	0	0	0	0	0	0	0	1	10223	1020	36	4		4	NCKAP5	2	133541938	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	2411	133541938	109657435	36	83574											
ZRANB3	84083	broad.mit.edu	37	chr2	136261984	136261984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtcaggcaaaaaatccaGcagattatcagattcatttg	7	8	4	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:136261984G>A	uc002tum.2	-	2	193	c.76C>T	c.(76-78)CTG>TTG	p.L26L	ZRANB3_uc002tuk.2_5'UTR|ZRANB3_uc002tul.2_Silent_p.L26L|ZRANB3_uc002tun.1_Intron	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	26						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)		AAAAAATCCAGCAGATTATCA	0.363													A	136261984	G	A	136261984	2	1	157	1	0	0	0	0	0	0	0	1	18221	962	34	2		2	ZRANB3	2	136261984	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	2720046	136261984	106937389	37	83575											
LRP1B	53353	broad.mit.edu	37	chr2	141214085	141214085	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgccagatagaagttagtgGgacatgcacaagtgtgggtt	14	6	0	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:141214085G>T	uc002tvj.1	-	62	10874	c.9902C>A	c.(9901-9903)CCC>CAC	p.P3301H		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3301	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAAGTTAGTGGGACATGCACA	0.438										TSP Lung(27;0.18)			T	141214085	G	T	141214085	3	4	157	1	0	0	0	0	1	0	0	0	8955	1232	43	5	4017	5	LRP1B	2	141214085	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	4952101	141214085	101985288	38	83576											
LRP1B	53353	broad.mit.edu	37	chr2	141598520	141598520	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctgcaagacactgtggcTtatcgattccatggataatt	10	8	0	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:141598520T>G	uc002tvj.1	-	30	6053	c.5081A>C	c.(5080-5082)AAG>ACG	p.K1694T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1694	Extracellular (Potential).|LDL-receptor class B 15.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACACTGTGGCTTATCGATTCC	0.353										TSP Lung(27;0.18)			G	141598520	T	G	141598520	3	3	157	1	0	0	0	0	1	0	0	0	8955	1609	56	5	8966	5	LRP1B	2	141598520	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	384435	141598520	101600853	39	83577											
LRP1B	53353	broad.mit.edu	37	chr2	141806634	141806634	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctggtggtgtcagcaaagtaGatgtaattggtttctgcgtg	14	5	2	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:141806634G>A	uc002tvj.1	-	11	2682	c.1710C>T	c.(1708-1710)ATC>ATT	p.I570I	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	570	Extracellular (Potential).|LDL-receptor class B 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGCAAAGTAGATGTAATTGG	0.423										TSP Lung(27;0.18)			A	141806634	G	A	141806634	2	1	157	1	0	0	0	0	0	0	0	1	8955	932	33	4		4	LRP1B	2	141806634	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	208114	141806634	101392739	40	83578											
MBD5	55777	broad.mit.edu	37	chr2	149267699	149267699	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgaactggacaaaatgtctGggactgtaagttaatttatt	10	4	1	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:149267699G>T	uc002twm.3	+	14	5396	c.4408G>T	c.(4408-4410)GGG>TGG	p.G1470W	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.G1470W|MBD5_uc002two.2_Missense_Mutation_p.G728W|MBD5_uc002twp.2_Missense_Mutation_p.G520W	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1470						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAAAATGTCTGGGACTGTAAG	0.328													T	149267699	G	T	149267699	3	4	157	1	0	0	0	0	1	0	0	0	9347	1348	47	5	4442	5	MBD5	2	149267699	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	7461065	149267699	93931674	41	83579											
FAP	2191	broad.mit.edu	37	chr2	163055300	163055300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcatagtacttggcgtagtCgctgaaacttgctgtgtaat	11	7	0	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:163055300C>T	uc002ucd.2	-	16	1577	c.1369G>A	c.(1369-1371)GAC>AAC	p.D457N	FAP_uc010fpc.2_5'UTR|FAP_uc010zct.1_Missense_Mutation_p.D432N|FAP_uc010fpd.2_5'UTR	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	457	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3						TTGGCGTAGTCGCTGAAACTT	0.468													T	163055300	C	T	163055300	3	4	157	1	0	0	0	0	1	0	0	0	5673	884	31	1	957	1	FAP	2	163055300	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	13787601	163055300	80144073	42	83580											
SCN2A	6326	broad.mit.edu	37	chr2	166179886	166179886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagccaggccagccgtgCctccagggtgctccccatcc	11	18	1	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:166179886C>T	uc002udc.2	+	12	2182	c.1892C>T	c.(1891-1893)GCC>GTC	p.A631V	SCN2A_uc002udd.2_Missense_Mutation_p.A631V|SCN2A_uc002ude.2_Missense_Mutation_p.A631V	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	631					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	GCCAGCCGTGCCTCCAGGGTG	0.602													T	166179886	C	T	166179886	3	4	157	1	0	0	0	0	1	0	0	0	13916	739	26	2	2030	2	SCN2A	2	166179886	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	3124586	166179886	77019487	43	83581											
TTN	7273	broad.mit.edu	37	chr2	179413258	179413258	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catcccacatcaatgtagcaGatccccgggtcacatctttg	7	14	3	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:179413258G>T	uc010zfg.1	-	288	85615	c.85391C>A	c.(85390-85392)TCT>TAT	p.S28464Y	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S22159Y|TTN_uc010zfi.1_Missense_Mutation_p.S22092Y|TTN_uc010zfj.1_Missense_Mutation_p.S21967Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29391							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAATGTAGCAGATCCCCGGGT	0.507													T	179413258	G	T	179413258	3	4	157	1	0	0	0	0	1	0	0	0	16732	942	33	5	14980	5	TTN	2	179413258	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	13233372	179413258	63786115	44	83582											
TTN	7273	broad.mit.edu	37	chr2	179468710	179468710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttaacgccttcaagcaaaCgaggaacattaaattccacg	6	10	1	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:179468710C>T	uc010zfg.1	-	231	47224	c.47000G>A	c.(46999-47001)CGT>CAT	p.R15667H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9362H|TTN_uc010zfi.1_Missense_Mutation_p.R9295H|TTN_uc010zfj.1_Missense_Mutation_p.R9170H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16594							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAAGCAAACGAGGAACATT	0.468													T	179468710	C	T	179468710	3	4	157	1	0	0	0	0	1	0	0	0	16732	536	19	1	53313	1	TTN	2	179468710	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	55452	179468710	63730663	45	83583											
ZNF804A	91752	broad.mit.edu	37	chr2	185803671	185803671	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttcatcctagccatctggCtttcccatctttaccccatg	4	16	4	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:185803671C>A	uc002uph.2	+	4	4142	c.3548C>A	c.(3547-3549)GCT>GAT	p.A1183D		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1183						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						AGCCATCTGGCTTTCCCATCT	0.502													A	185803671	C	A	185803671	3	1	157	1	0	0	0	0	1	0	0	0	18167	797	28	5	3562	5	ZNF804A	2	185803671	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	6334961	185803671	57395702	46	83584											
DNAH7	56171	broad.mit.edu	37	chr2	196699053	196699053	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttattagcctgactttgagGatctatcatcagaggccacc	8	10	3	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:196699053G>T	uc002utj.3	-	48	9078	c.8977C>A	c.(8977-8979)CCT>ACT	p.P2993T		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2993	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TGACTTTGAGGATCTATCATC	0.393													T	196699053	G	T	196699053	3	4	157	1	0	0	0	0	1	0	0	0	4606	1174	41	5	3169	5	DNAH7	2	196699053	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	10895382	196699053	46500320	47	83585											
ZNF142	7701	broad.mit.edu	37	chr2	219509337	219509337	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggcccctcaggtcgggcTgacagctggtttgagggctc	15	13	1	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:219509337T>G	uc002vin.2	-	8	2338	c.1902A>C	c.(1900-1902)TCA>TCC	p.S634S	ZNF142_uc002vil.2_Silent_p.S595S|ZNF142_uc010fvt.2_Silent_p.S471S|ZNF142_uc002vim.2_Silent_p.S471S	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CAGGTCGGGCTGACAGCTGGT	0.637													G	219509337	T	G	219509337	2	3	157	1	0	0	0	0	0	0	0	1	17728	1567	55	5		5	ZNF142	2	219509337	Silent	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	22810284	219509337	23690036	48	83586											
SPEG	10290	broad.mit.edu	37	chr2	220349010	220349010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcagagcccaagccccaCgctgctgtctttgccagggt	10	16	2	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:220349010C>T	uc010fwg.2	+	30	6825	c.6825C>T	c.(6823-6825)CAC>CAT	p.H2275H		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2275	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCAAGCCCCACGCTGCTGTCT	0.706													T	220349010	C	T	220349010	2	4	157	1	0	0	0	0	0	0	0	1	15035	535	19	1		1	SPEG	2	220349010	Silent	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	839673	220349010	22850363	49	83587											
FAM124B	79843	broad.mit.edu	37	chr2	225266120	225266120	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccccccagatgggcagCtgactgtccaggctgtagaa	11	14	1	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:225266120C>T	uc002vnx.2	-	1	592	c.366G>A	c.(364-366)CAG>CAA	p.Q122Q	FAM124B_uc002vnw.2_Silent_p.Q122Q	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	hypothetical protein LOC79843 isoform a	122							protein binding	p.Q122*(1)		ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		AGATGGGCAGCTGACTGTCCA	0.562													T	225266120	C	T	225266120	2	4	157	1	0	0	0	0	0	0	0	1	5426	796	28	2		2	FAM124B	2	225266120	Silent	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	4917110	225266120	17933253	50	83588											
CCL20	6364	broad.mit.edu	37	chr2	228681080	228681081	+	Frame_Shift_Del	DEL	AT	AT	-													ccaaaacagacttgggtgaaAtatattgtgcgtctcctcag							TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:228681080_228681081delAT	uc002vpl.2	+	3	319_320	c.249_250delAT	c.(247-252)AAATATfs	p.K83fs	CCL20_uc002vpm.2_Frame_Shift_Del_p.K82fs	NM_004591	NP_004582	P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20 isoform 1	83_84					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity				0		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CTTGGGTGAAATATATTGTGCG	0.401													-	228681081	AT	-	228681080	7	5	157	1	0	1	0	1	0	0	0	0	2892	98	4	0	259	0	CCL20	2	228681080	Frame_Shift_Del	DEL	AT	TCGA-CD-A48C-01A-11D-A24D-08	3414960	228681080	14518293	51	83589											
CAPN10	11132	broad.mit.edu	37	chr2	241534098	241534098	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gttggctacccggtcacggaGgccggccacctgcagagcct	14	15	1	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:241534098G>C	uc002vzk.1	+	6	1153	c.969G>C	c.(967-969)GAG>GAC	p.E323D	CAPN10_uc010zoh.1_Missense_Mutation_p.E323D|CAPN10_uc002vzl.1_Missense_Mutation_p.E323D|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Missense_Mutation_p.E195D|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10 isoform a	323	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			ovary(3)|large_intestine(2)|lung(1)	6		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		CGGTCACGGAGGCCGGCCACC	0.662													C	241534098	G	C	241534098	3	2	157	1	0	0	0	0	1	0	0	0	2623	991	35	5	991	5	CAPN10	2	241534098	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	12853018	241534098	1665275	52	83590											
FGD5	152273	broad.mit.edu	37	chr3	14964574	14964574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgtgccggaactgttcgCggaacaagtacccgctgaag	13	11	0	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:14964574C>T	uc003bzc.2	+	16	3939	c.3829C>T	c.(3829-3831)CGG>TGG	p.R1277W	FGD5_uc011avk.1_Missense_Mutation_p.R1277W|FGD5_uc003bzd.2_Missense_Mutation_p.R355W	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1277	FYVE-type.				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						GAACTGTTCGCGGAACAAGTA	0.632													T	14964574	C	T	14964574	3	4	157	1	0	0	0	0	1	0	0	0	5836	759	27	1	3891	1	FGD5	3	14964574	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08		14964574	183057856	53	83591											
KAT2B	8850	broad.mit.edu	37	chr3	20141402	20141402	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacctgtggttgaaggcTctttggaaaagaaaccccca	10	9	1	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:20141402T>A	uc003cbq.2	+	4	1071	c.625T>A	c.(625-627)TCT>ACT	p.S209T		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	209					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GGTTGAAGGCTCTTTGGAAAA	0.229													A	20141402	T	A	20141402	3	1	157	1	0	0	0	0	1	0	0	0	7982	1551	54	5	639	5	KAT2B	3	20141402	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	5176828	20141402	177881028	54	83592											
ZNF385D	79750	broad.mit.edu	37	chr3	21462840	21462840	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcgaagactgaagggggaacTcactgccactgctgctgcgg	14	11	1	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:21462840T>A	uc003cce.2	-	8	1462	c.1054A>T	c.(1054-1056)AGT>TGT	p.S352C		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	352						nucleus	nucleic acid binding|zinc ion binding	p.S352I(1)		large_intestine(2)|skin(2)|ovary(1)	5						AAGGGGGAACTCActgccact	0.433													A	21462840	T	A	21462840	3	1	157	1	0	0	0	0	1	0	0	0	17875	1551	54	5	137	5	ZNF385D	3	21462840	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	1321438	21462840	176559590	55	83593											
ZCWPW2	152098	broad.mit.edu	37	chr3	28566142	28566142	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tattgaggatataactaataAatttaaagaaatagatgctt	6	2	0	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:28566142A>C	uc003ceh.2	+	10	1202	c.1034A>C	c.(1033-1035)AAA>ACA	p.K345T	ZCWPW2_uc003cei.2_Missense_Mutation_p.K345T|ZCWPW2_uc010hfo.2_Missense_Mutation_p.K150T	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	345							zinc ion binding			ovary(2)	2						ATAACTAATAAATTTAAAGAA	0.274													C	28566142	A	C	28566142	3	2	157	1	0	0	0	0	1	0	0	0	17595	14	1	5	1064	5	ZCWPW2	3	28566142	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	7103302	28566142	169456288	56	83594											
ARPP21	10777	broad.mit.edu	37	chr3	35763106	35763106	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcgtactccaggggcaacagAgatggctcagggagaacatc	13	10	1	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:35763106A>T	uc003cgb.2	+	14	1269	c.1005A>T	c.(1003-1005)AGA>AGT	p.R335S	ARPP21_uc003cga.2_Missense_Mutation_p.R281S|ARPP21_uc011axy.1_Missense_Mutation_p.R301S|ARPP21_uc003cgf.2_Missense_Mutation_p.R136S|ARPP21_uc003cgg.2_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	335						cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						GGGGCAACAGAGATGGCTCAG	0.532													T	35763106	A	T	35763106	3	4	157	1	0	0	0	0	1	0	0	0	978	301	11	5	1064	5	ARPP21	3	35763106	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	7196964	35763106	162259324	57	83595											
TRAK1	22906	broad.mit.edu	37	chr3	42265201	42265201	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcttgatgggtgctaAgctctccaaacaaactagct	10	10	2	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:42265201A>C	uc003cky.2	+	16	3050	c.2834A>C	c.(2833-2835)AAG>ACG	p.K945T	TRAK1_uc011azi.1_Missense_Mutation_p.K924T	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	945					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						ATGGGTGCTAAGCTCTCCAAA	0.582													C	42265201	A	C	42265201	3	2	157	1	0	0	0	0	1	0	0	0	16446	72	3	5	3284	5	TRAK1	3	42265201	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	6502095	42265201	155757229	58	83596											
DNAH1	25981	broad.mit.edu	37	chr3	52412796	52412796	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgacccggccaaggtcgaGgtgaggaccaggcaggcacc	16	13	0	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:52412796G>A	uc011bef.1	+	47	7638	c.7377G>A	c.(7375-7377)GAG>GAA	p.E2459E		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2459					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCAAGGTCGAGGTGAGGACCA	0.627													A	52412796	G	A	52412796	2	1	157	1	0	0	0	0	0	0	0	1	4597	1014	35	4		4	DNAH1	3	52412796	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	10147595	52412796	145609634	59	83597											
DNASE1L3	1776	broad.mit.edu	37	chr3	58183574	58183574	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatgcacagttggtgctcttCttcaccgtggtgtcctcttg	10	11	4	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:58183574C>T	uc003djo.1	-	6	775	c.678G>A	c.(676-678)AAG>AAA	p.K226K	DNASE1L3_uc011bfd.1_Silent_p.K196K|DNASE1L3_uc003djp.1_Silent_p.K226K|DNASE1L3_uc003djq.1_Silent_p.K226K	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3 precursor	226					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TGGTGCTCTTCTTCACCGTGG	0.557													T	58183574	C	T	58183574	2	4	157	1	0	0	0	0	0	0	0	1	4663	912	32	4		4	DNASE1L3	3	58183574	Silent	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	5770778	58183574	139838856	60	83598											
EPHA3	2042	broad.mit.edu	37	chr3	89259476	89259476	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgcccatttacagtgaAgaatctggctatgtttccag	9	8	1	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:89259476A>T	uc003dqy.2	+	3	845	c.620A>T	c.(619-621)AAG>ATG	p.K207M	EPHA3_uc003dqx.1_Missense_Mutation_p.K207M|EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	207	Extracellular (Potential).|Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTTACAGTGAAGAATCTGGCT	0.453										TSP Lung(6;0.00050)			T	89259476	A	T	89259476	3	4	157	1	0	0	0	0	1	0	0	0	5168	72	3	5	630	5	EPHA3	3	89259476	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	31075902	89259476	108762954	61	83599											
EPHA6	285220	broad.mit.edu	37	chr3	96962916	96962916	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacatacagtgtaatctgtaAgaaatgtggcttagacacca	8	8	1	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:96962916A>G	uc010how.1	+	5	1434	c.1391A>G	c.(1390-1392)AAG>AGG	p.K464R	EPHA6_uc003drp.1_Missense_Mutation_p.K464R	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	369	Fibronectin type-III 1.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						GTAATCTGTAAGAAATGTGGC	0.448													G	96962916	A	G	96962916	3	3	157	1	0	0	0	0	1	0	0	0	5171	72	3	3	1409	3	EPHA6	3	96962916	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	7703440	96962916	101059514	62	83600											
IMPG2	50939	broad.mit.edu	37	chr3	100963573	100963573	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaggttgagtgaatgaActtgaaggcaatgaatcaat	12	5	1	5			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:100963573A>C	uc003duq.1	-	13	1805	c.1602T>G	c.(1600-1602)AGT>AGG	p.S534R	IMPG2_uc011bhe.1_Missense_Mutation_p.S397R	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	534	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GAGTGAATGAACTTGAAGGCA	0.353													C	100963573	A	C	100963573	3	2	157	1	0	0	0	0	1	0	0	0	7729	40	2	5	2151	5	IMPG2	3	100963573	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	4000657	100963573	97058857	63	83601											
EPHB1	2047	broad.mit.edu	37	chr3	134967238	134967238	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctacaccagctcatgctggaCtgttggcagaaggaccggaa	12	11	1	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:134967238C>A	uc003eqt.2	+	14	2797	c.2577C>A	c.(2575-2577)GAC>GAA	p.D859E	EPHB1_uc003equ.2_Missense_Mutation_p.D420E	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	859	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						TCATGCTGGACTGTTGGCAGA	0.572													A	134967238	C	A	134967238	3	1	157	1	0	0	0	0	1	0	0	0	5174	564	20	5	2631	5	EPHB1	3	134967238	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	34003665	134967238	63055192	64	83602											
TRPC1	7220	broad.mit.edu	37	chr3	142524916	142524916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgatgtgctgcctagtgcatCgttacttgacttccatgaga	10	9	0	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:142524916C>T	uc003evc.2	+	13	2357	c.2221C>T	c.(2221-2223)CGT>TGT	p.R741C	TRPC1_uc003evb.2_Missense_Mutation_p.R707C	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	741					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						CCTAGTGCATCGTTACTTGAC	0.383													T	142524916	C	T	142524916	3	4	157	1	0	0	0	0	1	0	0	0	16575	884	31	1	2165	1	TRPC1	3	142524916	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	7557678	142524916	55497514	65	83603											
SR140	23350	broad.mit.edu	37	chr3	142769862	142769862	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agagttttcaggagcaagtaGaacactacagagataaactt	9	6	1	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:142769862G>C	uc003evh.1	+	25	2725	c.2626G>C	c.(2626-2628)GAA>CAA	p.E876Q	SR140_uc003evi.1_Missense_Mutation_p.E467Q|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.E875Q|SR140_uc003evl.1_Missense_Mutation_p.E443Q	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	876	Potential.|Glu-rich.				RNA processing	nucleus	nucleotide binding|RNA binding				0						GGAGCAAGTAGAACACTACAG	0.323													C	142769862	G	C	142769862	3	2	157	1	0	0	0	0	1	0	0	0	15130	943	33	5	2724	5	SR140	3	142769862	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	244946	142769862	55252568	66	83604											
P2RY13	53829	broad.mit.edu	37	chr3	151046713	151046713	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagggctgggaataccagcTgtactatccgagtgtctctg	13	9	1	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:151046713T>C	uc003eyv.2	-	2	152	c.131A>G	c.(130-132)CAG>CGG	p.Q44R	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	44	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(3)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			GAATACCAGCTGTACTATCCG	0.507													C	151046713	T	C	151046713	3	2	157	1	0	0	0	0	1	0	0	0	11350	1580	55	3	937	3	P2RY13	3	151046713	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	8276851	151046713	46975717	67	83605											
MBNL1	4154	broad.mit.edu	37	chr3	152018069	152018069	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagggggacttgctcacgGccagacacggaatgtaaatt	13	9	1	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:152018069G>A	uc003ezm.2	+	1	876	c.87G>A	c.(85-87)CGG>CGA	p.R29R	MBNL1_uc003ezh.2_Silent_p.R29R|MBNL1_uc003ezi.2_Silent_p.R29R|MBNL1_uc003ezj.2_Intron|MBNL1_uc003ezl.2_Silent_p.R29R|MBNL1_uc003ezp.2_Silent_p.R29R|MBNL1_uc003ezn.2_Silent_p.R29R|MBNL1_uc003ezo.2_Silent_p.R29R|MBNL1_uc003ezg.1_RNA|MBNL1_uc003ezk.1_RNA	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	muscleblind-like 1 isoform c	29	C3H1-type 1.				embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTTGCTCACGGCCAGACACGG	0.428													A	152018069	G	A	152018069	2	1	157	1	0	0	0	0	0	0	0	1	9353	1190	42	2		2	MBNL1	3	152018069	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	971356	152018069	46004361	68	83606											
BCHE	590	broad.mit.edu	37	chr3	165504095	165504095	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	attgttctgagtctcatttgGattcctaaataataaaatag	6	5	2	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:165504095G>T	uc003fem.3	-	3	1682	c.1522C>A	c.(1522-1524)CCA>ACA	p.P508T	BCHE_uc003fen.3_RNA	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	508					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GTCTCATTTGGATTCCTAAAT	0.299													T	165504095	G	T	165504095	3	4	157	1	0	0	0	0	1	0	0	0	1358	1174	41	5	294	5	BCHE	3	165504095	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	13486026	165504095	32518335	69	83607											
MECOM	2122	broad.mit.edu	37	chr3	168807857	168807858	+	Missense_Mutation	DNP	TC	TC	AA													agtcatcctcagggtttcctTcatgtaaattacttgtcact							TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:168807857_168807858TC>AA	uc003ffi.3	-	14	3036_3037	c.2767_2768GA>TT	c.(2767-2769)GAA>TTA	p.E923L	MECOM_uc010hwk.1_Missense_Mutation_p.E937L|MECOM_uc003ffj.3_Missense_Mutation_p.E988L|MECOM_uc011bpi.1_Missense_Mutation_p.E915L|MECOM_uc003ffn.3_Missense_Mutation_p.E923L|MECOM_uc003ffk.2_Missense_Mutation_p.E914L|MECOM_uc003ffl.2_Missense_Mutation_p.E1074L|MECOM_uc011bpj.1_Missense_Mutation_p.E1111L|MECOM_uc011bpk.1_Missense_Mutation_p.E913L	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	923	Asp/Glu-rich (acidic).				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						AGGGTTTCCTTCATGTAAATTA	0.421													AA	168807858	TC	AA	168807857	3	1	157	1	0	0	0	0	1	0	0	0	9422	1783	62	5	399	5	MECOM	3	168807857	Missense_Mutation	DNP	TC	TCGA-CD-A48C-01A-11D-A24D-08	3303762	168807857	29214573	70	83608											
IGF2BP2	10644	broad.mit.edu	37	chr3	185393611	185393611	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttggtccctgtttcatgTtcaattttcttcaaatttct	4	9	6	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:185393611T>C	uc003fpo.2	-	8	982	c.903A>G	c.(901-903)GAA>GAG	p.E301E	IGF2BP2_uc010hyi.2_Silent_p.E244E|IGF2BP2_uc010hyj.2_Silent_p.E238E|IGF2BP2_uc010hyk.2_Silent_p.E165E|IGF2BP2_uc010hyl.2_Silent_p.E238E|IGF2BP2_uc003fpp.2_Silent_p.E301E|IGF2BP2_uc003fpq.2_Silent_p.E306E	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding	301	KH 2.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity				0	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CTGTTTCATGTTCAATTTTCT	0.403													C	185393611	T	C	185393611	2	2	157	1	0	0	0	0	0	0	0	1	7574	1722	60	3		3	IGF2BP2	3	185393611	Silent	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	16585754	185393611	12628819	71	83609											
STK32B	55351	broad.mit.edu	37	chr4	5469777	5469777	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagactgtccgggaggaattCatcatattcaacagagagaa	11	7	3	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:5469777C>A	uc003gih.1	+	11	1150	c.1086C>A	c.(1084-1086)TTC>TTA	p.F362L	STK32B_uc010ida.1_Missense_Mutation_p.F315L	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	362							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						GGGAGGAATTCATCATATTCA	0.532													A	5469777	C	A	5469777	3	1	157	1	0	0	0	0	1	0	0	0	15297	825	29	5	1128	5	STK32B	4	5469777	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08		5469777	185684499	72	83610											
EVC2	132884	broad.mit.edu	37	chr4	5617239	5617239	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agctctcccttgcttttactCttggaccgtgactttctcac	6	14	3	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:5617239C>T	uc003gij.2	-	16	2793	c.2739G>A	c.(2737-2739)AAG>AAA	p.K913K	EVC2_uc011bwb.1_Silent_p.K353K|EVC2_uc003gik.2_Silent_p.K833K	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	913						integral to membrane				large_intestine(3)|ovary(2)	5						TGCTTTTACTCTTGGACCGTG	0.517													T	5617239	C	T	5617239	2	4	157	1	0	0	0	0	0	0	0	1	5286	912	32	4		4	EVC2	4	5617239	Silent	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	147462	5617239	185537037	73	83611											
SLIT2	9353	broad.mit.edu	37	chr4	20493511	20493511	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccacaaatcttccagagacCatcacagaaatgtatgtgcc	6	13	2	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:20493511C>A	uc003gpr.1	+	9	1107	c.903C>A	c.(901-903)ACC>ACA	p.T301T	SLIT2_uc003gps.1_Silent_p.T301T	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	301	LRR 7.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						TTCCAGAGACCATCACAGAAA	0.458													A	20493511	C	A	20493511	2	1	157	1	0	0	0	0	0	0	0	1	14740	581	21	5		5	SLIT2	4	20493511	Silent	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	14876272	20493511	170660765	74	83612											
GPR125	166647	broad.mit.edu	37	chr4	22425827	22425827	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttactgttgaataaacgTgagctccaccggctagccgg	10	12	0	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:22425827T>G	uc003gqm.1	-	11	1857	c.1592A>C	c.(1591-1593)CAC>CCC	p.H531P	GPR125_uc010ieo.1_Missense_Mutation_p.H405P|GPR125_uc003gqn.1_Missense_Mutation_p.H305P|GPR125_uc003gqo.2_Missense_Mutation_p.H531P	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	531	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				TGAATAAACGTGAGCTCCACC	0.483													G	22425827	T	G	22425827	3	3	157	1	0	0	0	0	1	0	0	0	6639	1696	59	5	2409	5	GPR125	4	22425827	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	1932316	22425827	168728449	75	83613											
SEL1L3	23231	broad.mit.edu	37	chr4	25823632	25823632	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actcacctgggcggggtgcaGactgcgaaggcgatagtact	15	10	1	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:25823632G>T	uc003gru.3	-	7	1428	c.1276C>A	c.(1276-1278)CTG>ATG	p.L426M		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	426						integral to membrane	binding				0						GCGGGGTGCAGACTGCGAAGG	0.532													T	25823632	G	T	25823632	3	4	157	1	0	0	0	0	1	0	0	0	14012	933	33	5	2194	5	SEL1L3	4	25823632	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	3397805	25823632	165330644	76	83614											
LIMCH1	22998	broad.mit.edu	37	chr4	41691639	41691639	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcaatctctattttcacaTccagtgtttcagggtacgta	6	11	4	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:41691639T>A	uc003gvu.3	+	25	3164	c.3110T>A	c.(3109-3111)ATC>AAC	p.I1037N	LIMCH1_uc003gvv.3_Missense_Mutation_p.I1011N|LIMCH1_uc003gvw.3_Missense_Mutation_p.I1010N|LIMCH1_uc003gvx.3_Missense_Mutation_p.I1023N|LIMCH1_uc003gwe.3_Missense_Mutation_p.I934N|LIMCH1_uc003gvy.3_Missense_Mutation_p.I839N|LIMCH1_uc003gwa.3_Missense_Mutation_p.I851N|LIMCH1_uc003gvz.3_Missense_Mutation_p.I1421N|LIMCH1_uc011byu.1_Missense_Mutation_p.I870N|LIMCH1_uc003gwc.3_Missense_Mutation_p.I856N|LIMCH1_uc003gwd.3_Missense_Mutation_p.I844N|LIMCH1_uc011byv.1_Missense_Mutation_p.I787N|LIMCH1_uc011byw.1_Missense_Mutation_p.I310N	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	1037	LIM zinc-binding.				actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						TATTTTCACATCCAGTGTTTC	0.453													A	41691639	T	A	41691639	3	1	157	1	0	0	0	0	1	0	0	0	8797	1435	50	5	3236	5	LIMCH1	4	41691639	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	15868007	41691639	149462637	77	83615											
GABRG1	2565	broad.mit.edu	37	chr4	46053588	46053588	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatccatcgcagtcacataAgaaaccttaggtaaagactt	7	9	1	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:46053588A>C	uc003gxb.2	-	8	1136	c.984T>G	c.(982-984)TCT>TCG	p.S328S		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	328					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CAGTCACATAAGAAACCTTAG	0.373													C	46053588	A	C	46053588	2	2	157	1	0	0	0	0	0	0	0	1	6171	59	3	5		5	GABRG1	4	46053588	Silent	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	4361949	46053588	145100688	78	83616											
TECRL	253017	broad.mit.edu	37	chr4	65275046	65275046	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctctcttgcgttccgaagcGagggacttgtgccttttgaa	12	10	1	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:65275046G>A	uc003hcv.2	-	1	133	c.24C>T	c.(22-24)CTC>CTT	p.L8L	TECRL_uc003hcw.2_Silent_p.L8L	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	8					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0						GTTCCGAAGCGAGGGACTTGT	0.393													A	65275046	G	A	65275046	2	1	157	1	0	0	0	0	0	0	0	1	15743	1045	37	1		1	TECRL	4	65275046	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	19221458	65275046	125879230	79	83617											
UGT2B10	7365	broad.mit.edu	37	chr4	69696547	69696547	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcatcacaaagtgttgtctgTtttgtttctggaagtttgct	9	6	4	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:69696547T>A	uc003hee.2	+	6	1562	c.1537T>A	c.(1537-1539)TTT>ATT	p.F513I	UGT2B10_uc011cam.1_Missense_Mutation_p.F429I	NM_001075	NP_001066	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2B10 isoform 1	513					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						GTGTTGTCTGTTTTGTTTCTG	0.418													A	69696547	T	A	69696547	3	1	157	1	0	0	0	0	1	0	0	0	16953	1725	60	5	1559	5	UGT2B10	4	69696547	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	4421501	69696547	121457729	80	83618											
SHROOM3	57619	broad.mit.edu	37	chr4	77662015	77662015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaccttccagctctccagcGagccagagagggagcccgag	13	15	1	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:77662015G>A	uc011cbx.1	+	5	3642	c.2689G>A	c.(2689-2691)GAG>AAG	p.E897K	SHROOM3_uc011cbz.1_Missense_Mutation_p.E721K|SHROOM3_uc003hkf.1_Missense_Mutation_p.E772K|SHROOM3_uc003hkg.2_Missense_Mutation_p.E675K	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	897					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			GCTCTCCAGCGAGCCAGAGAG	0.711													A	77662015	G	A	77662015	3	1	157	1	0	0	0	0	1	0	0	0	14295	1059	37	1	2707	1	SHROOM3	4	77662015	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	7965468	77662015	113492261	81	83619											
PDHA2	5161	broad.mit.edu	37	chr4	96761768	96761768	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgatgcatatgtataccaAgaacttctatgggggcaatg	10	7	1	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:96761768A>C	uc003htr.3	+	1	530	c.467A>C	c.(466-468)AAG>ACG	p.K156T		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	156					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ATGTATACCAAGAACTTCTAT	0.507													C	96761768	A	C	96761768	3	2	157	1	0	0	0	0	1	0	0	0	11665	72	3	5	469	5	PDHA2	4	96761768	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	19099753	96761768	94392508	82	83620											
ALPK1	80216	broad.mit.edu	37	chr4	113352097	113352097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctattcacagcaccatacttCggtgtgtgaagtatttgaaa	8	8	1	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:113352097C>T	uc003iap.3	+	11	1673	c.1394C>T	c.(1393-1395)TCG>TTG	p.S465L	ALPK1_uc003ian.3_Missense_Mutation_p.S465L|ALPK1_uc011cfx.1_Missense_Mutation_p.S387L|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.S293L	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	465							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CACCATACTTCGGTGTGTGAA	0.388													T	113352097	C	T	113352097	3	4	157	1	0	0	0	0	1	0	0	0	544	893	31	1	1428	1	ALPK1	4	113352097	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	16590329	113352097	77802179	83	83621											
ANK2	287	broad.mit.edu	37	chr4	114277998	114277998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaaaagattctgaatccCatttagctgaagaccgtcat	7	8	2	5			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:114277998C>T	uc003ibe.3	+	38	8324	c.8224C>T	c.(8224-8226)CAT>TAT	p.H2742Y	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.H44Y|ANK2_uc011cgb.1_Missense_Mutation_p.H2757Y	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2709					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)		TTCTGAATCCCATTTAGCTGA	0.413													T	114277998	C	T	114277998	3	4	157	1	0	0	0	0	1	0	0	0	621	594	21	4	8439	4	ANK2	4	114277998	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	925901	114277998	76876278	84	83622											
PCDH18	54510	broad.mit.edu	37	chr4	138442387	138442387	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttccaagtggcggcccacaGttggtggtgggattttgaaa	15	7	0	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:138442387G>T	uc003ihe.3	-	4	3591	c.3204C>A	c.(3202-3204)AAC>AAA	p.N1068K	PCDH18_uc003ihf.3_Missense_Mutation_p.N1060K|PCDH18_uc011cgz.1_Missense_Mutation_p.N279K|PCDH18_uc003ihg.3_Missense_Mutation_p.N847K|PCDH18_uc011cha.1_Missense_Mutation_p.N248K	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	1068	Interaction with DAB1 (By similarity).|Cytoplasmic (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					GCGGCCCACAGTTGGTGGTGG	0.542													T	138442387	G	T	138442387	3	4	157	1	0	0	0	0	1	0	0	0	11513	1020	36	5	207	5	PCDH18	4	138442387	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	24164389	138442387	52711889	85	83623											
TRIML2	205860	broad.mit.edu	37	chr4	189026046	189026046	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatgcttttagctgcttcaAgtttctccctcgatgtgttc	7	10	2	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:189026046A>C	uc003izl.2	-	2	116	c.80T>G	c.(79-81)CTT>CGT	p.L27R	TRIML2_uc011cle.1_Missense_Mutation_p.L77R|TRIML2_uc011clf.1_Missense_Mutation_p.L77R	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	27	Potential.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGCTGCTTCAAGTTTCTCCCT	0.393													C	189026046	A	C	189026046	3	2	157	1	0	0	0	0	1	0	0	0	16548	72	3	5	1107	5	TRIML2	4	189026046	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	50583659	189026046	2128230	86	83624											
MARCH6	10299	broad.mit.edu	37	chr5	10377976	10377976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatcatccttgtgtatgtaCtggcagtattaagtttatcc	7	7	1	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr5:10377976C>T	uc003jet.1	+	2	269	c.86C>T	c.(85-87)ACT>ATT	p.T29I	MARCH6_uc011cmu.1_Missense_Mutation_p.T29I|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Intron	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	29	Cytoplasmic (Potential).|RING-CH-type.				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						TGTGTATGTACTGGCAGTATT	0.373													T	10377976	C	T	10377976	3	4	157	1	0	0	0	0	1	0	0	0	9305	565	20	4	92	4	MARCH6	5	10377976	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08		10377976	170537284	87	83625											
DNAH5	1767	broad.mit.edu	37	chr5	13762852	13762852	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcagaggcagtacttctttGtttatagaaaagaaggaagc	10	5	2	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr5:13762852G>C	uc003jfd.2	-	60	10302	c.10260C>G	c.(10258-10260)AAC>AAG	p.N3420K	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3420	Stalk (By similarity).				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)					GTACTTCTTTGTTTATAGAAA	0.483									Kartagener_syndrome				C	13762852	G	C	13762852	3	2	157	1	0	0	0	0	1	0	0	0	4604	1368	48	5	3694	5	DNAH5	5	13762852	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	3384876	13762852	167152408	88	83626											
CDH12	1010	broad.mit.edu	37	chr5	21842417	21842417	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacttctctgtccatgtttgGcaaagctgttctaataacac	7	10	2	0	rs115178807	byFrequency	TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr5:21842417G>T	uc010iuc.2	-	5	1125	c.667C>A	c.(667-669)CCA>ACA	p.P223T	CDH12_uc011cno.1_Missense_Mutation_p.P183T|CDH12_uc003jgk.2_Missense_Mutation_p.P223T	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	223	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						TCCATGTTTGGCAAAGCTGTT	0.353										HNSCC(59;0.17)			T	21842417	G	T	21842417	3	4	157	1	0	0	0	0	1	0	0	0	3098	1203	42	5	1749	5	CDH12	5	21842417	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	8079565	21842417	159072843	89	83627											
CDH10	1008	broad.mit.edu	37	chr5	24498608	24498608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcacaaaaacagccacgcGtgttgtctctttgggattgt	9	10	2	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr5:24498608G>A	uc003jgr.1	-	9	1746	c.1414C>T	c.(1414-1416)CGC>TGC	p.R472C	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	472	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		ACAGCCACGCGTGTTGTCTCT	0.383										HNSCC(23;0.051)			A	24498608	G	A	24498608	3	1	157	1	0	0	0	0	1	0	0	0	3096	1145	40	1	968	1	CDH10	5	24498608	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	2656191	24498608	156416652	90	83628											
UGT3A1	133688	broad.mit.edu	37	chr5	35957518	35957518	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttggcaatgaagttgtccaAgtcctagagagagatgacaa	12	6	0	4			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr5:35957518A>G	uc003jjv.1	-	5	1004	c.847T>C	c.(847-849)TTG>CTG	p.L283L	UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Silent_p.L283L|UGT3A1_uc011cor.1_Silent_p.L249L	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	283	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGTTGTCCAAGTCCTAGAGA	0.458													G	35957518	A	G	35957518	2	3	157	1	0	0	0	0	0	0	0	1	16960	69	3	3		3	UGT3A1	5	35957518	Silent	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	11458910	35957518	144957742	91	83629											
PARP8	79668	broad.mit.edu	37	chr5	50120793	50120793	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ataaacaggacccccttgctCatcccttactgcaatggtat	6	13	1	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr5:50120793C>T	uc003jon.3	+	19	2094	c.1912C>T	c.(1912-1914)CAT>TAT	p.H638Y	PARP8_uc011cpz.1_Missense_Mutation_p.H530Y|PARP8_uc003joo.2_Missense_Mutation_p.H638Y|PARP8_uc003jop.2_Missense_Mutation_p.H596Y	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	638	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				CCCCCTTGCTCATCCCTTACT	0.318													T	50120793	C	T	50120793	3	4	157	1	0	0	0	0	1	0	0	0	11465	826	29	4	1982	4	PARP8	5	50120793	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	14163275	50120793	130794467	92	83630											
MAP1B	4131	broad.mit.edu	37	chr5	71492684	71492684	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atatcaccaaatatgaatctTcattgtattctcaggaatac	4	8	4	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr5:71492684T>A	uc003kbw.3	+	5	3743	c.3502T>A	c.(3502-3504)TCA>ACA	p.S1168T	MAP1B_uc010iyw.1_Missense_Mutation_p.S1185T|MAP1B_uc010iyx.1_Missense_Mutation_p.S1042T|MAP1B_uc010iyy.1_Missense_Mutation_p.S1042T	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1168						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATATGAATCTTCATTGTATTC	0.423													A	71492684	T	A	71492684	3	1	157	1	0	0	0	0	1	0	0	0	9228	1783	62	5	3520	5	MAP1B	5	71492684	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	21371891	71492684	109422576	93	83631											
ADAMTS19	171019	broad.mit.edu	37	chr5	128796134	128796134	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcacatctgctgctgctgccTcctttaccagctggggttcc	9	15	2	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr5:128796134T>A	uc003kvb.1	+	1	32	c.32T>A	c.(31-33)CTC>CAC	p.L11H	ADAMTS19_uc003kvc.1_5'Flank	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	11					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGCTGCTGCCTCCTTTACCAG	0.627													A	128796134	T	A	128796134	3	1	157	1	0	0	0	0	1	0	0	0	264	1551	54	5	34	5	ADAMTS19	5	128796134	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	57303450	128796134	52119126	94	83632											
ADAMTS19	171019	broad.mit.edu	37	chr5	128984615	128984615	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggcttatagtgttagaActtcctccccaaagcatata	7	10	1	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr5:128984615A>C	uc003kvb.1	+	13	2110	c.2110A>C	c.(2110-2112)ACT>CCT	p.T704P	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	704	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TAGTGTTAGAACTTCCTCCCC	0.438													C	128984615	A	C	128984615	3	2	157	1	0	0	0	0	1	0	0	0	264	43	2	5	2160	5	ADAMTS19	5	128984615	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	188481	128984615	51930645	95	83633											
PCDHB4	56131	broad.mit.edu	37	chr5	140503131	140503131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgttcgccctcaggtcGctggactacgaggccctgca	11	16	1	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr5:140503131G>A	uc003lip.1	+	1	1551	c.1551G>A	c.(1549-1551)TCG>TCA	p.S517S		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	517	Cadherin 5.|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)			CCCTCAGGTCGCTGGACTACG	0.692													A	140503131	G	A	140503131	2	1	157	1	0	0	0	0	0	0	0	1	11544	1074	38	1		1	PCDHB4	5	140503131	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	11518516	140503131	40412129	96	83634											
PCDHB8	56128	broad.mit.edu	37	chr5	140559571	140559571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggacaatggcgagcctccGtgctcggccaccgccacgct	12	16	0	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr5:140559571G>A	uc011dai.1	+	1	2142	c.1956G>A	c.(1954-1956)CCG>CCA	p.P652P	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	652	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGAGCCTCCGTGCTCGGCCA	0.711													A	140559571	G	A	140559571	2	1	157	1	0	0	0	0	0	0	0	1	11548	1132	40	1		1	PCDHB8	5	140559571	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	56440	140559571	40355689	97	83635											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812214	140812214	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcgaggtgcgcacggcgCgagccctgctggacagagac	18	13	0	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr5:140812214C>T	uc003lkt.1	+	1	2057	c.1888C>T	c.(1888-1890)CGA>TGA	p.R630*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Nonsense_Mutation_p.R630*	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	630	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCACGGCGCGAGCCCTGCT	0.692													T	140812214	C	T	140812214	4	4	157	1	0	0	0	0	0	1	0	0	11553	760	27	1	1890	1	PCDHGA12	5	140812214	Nonsense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	252643	140812214	40103046	98	83636											
RREB1	6239	broad.mit.edu	37	chr6	7230602	7230602	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccggacaccgtgtgccggcTgtgcggcgaggacctcaagc	15	15	1	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr6:7230602T>C	uc003mxc.2	+	10	2660	c.2270T>C	c.(2269-2271)CTG>CCG	p.L757P	RREB1_uc003mxb.2_Missense_Mutation_p.L757P|RREB1_uc010jnx.2_Missense_Mutation_p.L757P	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	757	C2H2-type 10.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GTGTGCCGGCTGTGCGGCGAG	0.677													C	7230602	T	C	7230602	3	2	157	1	0	0	0	0	1	0	0	0	13679	1580	55	3	2296	3	RREB1	6	7230602	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08		7230602	163884465	99	83637											
LRRC16A	55604	broad.mit.edu	37	chr6	25554282	25554282	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgtctgatagaattgtGgatgaaatcctggatgcact	10	7	1	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr6:25554282G>A	uc011djw.1	+	28	2926	c.2550G>A	c.(2548-2550)GTG>GTA	p.V850V	LRRC16A_uc010jpx.2_Silent_p.V850V|LRRC16A_uc010jpy.2_Silent_p.V850V|LRRC16A_uc003nfa.1_Silent_p.V204V	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	850					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						ATAGAATTGTGGATGAAATCC	0.443													A	25554282	G	A	25554282	2	1	157	1	0	0	0	0	0	0	0	1	8971	1335	47	4		4	LRRC16A	6	25554282	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	18323680	25554282	145560785	100	83638											
EHMT2	10919	broad.mit.edu	37	chr6	31855588	31855588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatgaccagggccttttcCagggcctcccggcctggccc	13	16	0	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr6:31855588C>T	uc003nxz.1	-	14	1906	c.1896G>A	c.(1894-1896)CTG>CTA	p.L632L	EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Silent_p.L423L|EHMT2_uc011don.1_Silent_p.L655L|EHMT2_uc003nya.1_Silent_p.L598L	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	632					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						GGGCCTTTTCCAGGGCCTCCC	0.657													T	31855588	C	T	31855588	2	4	157	1	0	0	0	0	0	0	0	1	4984	581	21	4		4	EHMT2	6	31855588	Silent	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	6301306	31855588	139259479	101	83639											
COL11A2	1302	broad.mit.edu	37	chr6	33144777	33144777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcccactcaccgggggtcCgtctgagccaggcatgccgg	15	15	2	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr6:33144777C>T	uc003ocx.1	-	25	2290	c.2062G>A	c.(2062-2064)GGA>AGA	p.G688R	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G602R|COL11A2_uc003ocz.1_Missense_Mutation_p.G581R	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	688	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						ACCGGGGGTCCGTCTGAGCCA	0.602													T	33144777	C	T	33144777	3	4	157	1	0	0	0	0	1	0	0	0	3668	661	23	1	3316	1	COL11A2	6	33144777	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	1289189	33144777	137970290	102	83640											
DAAM2	23500	broad.mit.edu	37	chr6	39869751	39869751	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcaagcgcagccgcaagCgatcagggagccaggccctg	14	14	2	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr6:39869751C>T	uc003oow.2	+	25	3301	c.3145C>T	c.(3145-3147)CGA>TGA	p.R1049*	DAAM2_uc003oox.2_Nonsense_Mutation_p.R1048*	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	1049					actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAGCCGCAAGCGATCAGGGAG	0.612													T	39869751	C	T	39869751	4	4	157	1	0	0	0	0	0	1	0	0	4216	760	27	1	3236	1	DAAM2	6	39869751	Nonsense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	6724974	39869751	131245316	103	83641											
RCAN2	10231	broad.mit.edu	37	chr6	46293235	46293235	+	Translation_Start_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attcccccttctgaatttttAataaagagttaggcaacctc	5	10	1	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr6:46293235A>C	uc003oyb.1	-	1	297	c.-18T>G	c.(-20--16)ATTAA>ATGAA		RCAN2_uc003oyc.1_Intron|RCAN2_uc003oyd.1_Intron	NM_005822	NP_005813	Q14206	RCAN2_HUMAN	Down syndrome critical region gene 1-like 1						calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding				0						CTGAATTTTTAATAAAGAGTT	0.532													C	46293235	A	C	46293235	1	2	157	1	0	0	0	0	0	0	0	0	13169	377	13	5		5	RCAN2	6	46293235	Translation_Start_Site	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	6423484	46293235	124821832	104	83642											
KHDRBS2	202559	broad.mit.edu	37	chr6	62611269	62611269	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcctgacgaatttcatcaTtgtagtcctggagaaaaaac	8	8	2	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr6:62611269T>C	uc003peg.2	-	5	738	c.491A>G	c.(490-492)AAT>AGT	p.N164S		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		AATTTCATCATTGTAGTCCTG	0.383													C	62611269	T	C	62611269	3	2	157	1	0	0	0	0	1	0	0	0	8147	1493	52	3	578	3	KHDRBS2	6	62611269	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	16318034	62611269	108503798	105	83643											
COL12A1	1303	broad.mit.edu	37	chr6	75804892	75804892	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactcctggggagcctgggcTtccctacaacacatggaaag	12	12	0	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr6:75804892T>C	uc003phs.2	-	60	8747	c.8581A>G	c.(8581-8583)AGC>GGC	p.S2861G	COL12A1_uc003pht.2_Missense_Mutation_p.S1697G	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2861	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GAGCCTGGGCTTCCCTACAAC	0.473													C	75804892	T	C	75804892	3	2	157	1	0	0	0	0	1	0	0	0	3669	1609	56	3	638	3	COL12A1	6	75804892	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	13193623	75804892	95310175	106	83644											
ARHGAP18	93663	broad.mit.edu	37	chr6	129963162	129963162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgtactggccatatctgcGactgtaaattcaaaagaacc	8	9	2	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr6:129963162G>A	uc003qbr.2	-	2	204	c.115C>T	c.(115-117)CGC>TGC	p.R39C	ARHGAP18_uc011ebw.1_Missense_Mutation_p.R39C	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	39					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			ovary(2)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CCATATCTGCGACTGTAAATT	0.383													A	129963162	G	A	129963162	3	1	157	1	0	0	0	0	1	0	0	0	868	1072	37	1	1932	1	ARHGAP18	6	129963162	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	54158270	129963162	41151905	107	83645											
CTGF	1490	broad.mit.edu	37	chr6	132271583	132271583	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacaggggcatgcagcccacCgccccgtccaggcacgtgca	12	18	0	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr6:132271583C>A	uc003qcz.2	-	3	596	c.390G>T	c.(388-390)GCG>GCT	p.A130A		NM_001901	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor precursor	130	VWFC.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding				0	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		TGCAGCCCACCGCCCCGTCCA	0.642											OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	132271583	C	A	132271583	2	1	157	1	0	0	0	0	0	0	0	1	4008	639	23	5		5	CTGF	6	132271583	Silent	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	2308421	132271583	38843484	108	83646											
AKAP12	9590	broad.mit.edu	37	chr6	151671390	151671390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggtgacgcccaagaagCgtgttagacggccttcggaa	14	9	0	4	rs143476871		TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr6:151671390C>T	uc011eep.1	+	4	2104	c.1864C>T	c.(1864-1866)CGT>TGT	p.R622C	AKAP12_uc003qoe.2_Missense_Mutation_p.R622C|AKAP12_uc003qof.2_Missense_Mutation_p.R524C|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.R517C	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	622	AKAP 1.				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GCCCAAGAAGCGTGTTAGACG	0.498													T	151671390	C	T	151671390	3	4	157	1	0	0	0	0	1	0	0	0	448	768	27	1	1903	1	AKAP12	6	151671390	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	19399807	151671390	19443677	109	83647											
C7orf27	221927	broad.mit.edu	37	chr7	2577735	2577735	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcgtccccctgcaggaAgcctcccgtggccagcatgt	12	17	0	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr7:2577735A>T	uc003smi.2	-	14	2476	c.2434T>A	c.(2434-2436)TTC>ATC	p.F812I	C7orf27_uc003smh.3_Missense_Mutation_p.F244I	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	812					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		CCCTGCAGGAAGCCTCCCGTG	0.652													T	2577735	A	T	2577735	3	4	157	1	0	0	0	0	1	0	0	0	2382	72	3	5	35	5	C7orf27	7	2577735	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08		2577735	156560928	110	83648											
DNAH11	8701	broad.mit.edu	37	chr7	21654730	21654730	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtttatgttctctccttAggcaaatgaagagcttgagg	12	6	1	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr7:21654730A>T	uc003svc.2	+	21	3884	c.3853_splice	c.e21-2	p.A1285_splice		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TTCTCTCCTTAGGCAAATGAA	0.388									Kartagener_syndrome				T	21654730	A	T	21654730	5	4	157	1	0	0	0	0	0	0	1	0	4599	434	15	5	3933	5	DNAH11	7	21654730	Splice_Site	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	19076995	21654730	137483933	111	83649											
HECW1	23072	broad.mit.edu	37	chr7	43483913	43483913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcggcagtggggaacctcGgtctgaggcaccagagtcct	15	11	1	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr7:43483913G>A	uc003tid.1	+	11	1747	c.1142G>A	c.(1141-1143)CGG>CAG	p.R381Q	HECW1_uc011kbi.1_Missense_Mutation_p.R381Q	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	381					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GGGGAACCTCGGTCTGAGGCA	0.572													A	43483913	G	A	43483913	3	1	157	1	0	0	0	0	1	0	0	0	7042	1116	39	1	1176	1	HECW1	7	43483913	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	21829183	43483913	115654750	112	83650											
PCLO	27445	broad.mit.edu	37	chr7	82764559	82764559	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggttttgttgttgctgatgaTgaagatacaaggtcagtggt	14	3	1	4			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr7:82764559T>A	uc003uhx.2	-	3	2596	c.2307A>T	c.(2305-2307)TCA>TCT	p.S769S	PCLO_uc003uhv.2_Silent_p.S769S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	715	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TTGCTGATGATGAAGATACAA	0.458													A	82764559	T	A	82764559	2	1	157	1	0	0	0	0	0	0	0	1	11583	1451	51	5		5	PCLO	7	82764559	Silent	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	39280646	82764559	76374104	113	83651											
ABCB4	5244	broad.mit.edu	37	chr7	87056199	87056199	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggcagccttttcatcatttAgttcaaattcttctgactgg	7	9	5	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr7:87056199A>T	uc003uiv.1	-	16	2007	c.1931T>A	c.(1930-1932)CTA>CAA	p.L644Q	ABCB4_uc003uiw.1_Missense_Mutation_p.L644Q|ABCB4_uc003uix.1_Missense_Mutation_p.L644Q	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	644	Cytoplasmic (By similarity).|Interaction with HAX1 (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTCATCATTTAGTTCAAATTC	0.313													T	87056199	A	T	87056199	3	4	157	1	0	0	0	0	1	0	0	0	43	420	15	5	1981	5	ABCB4	7	87056199	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	4291640	87056199	72082464	114	83652											
TRRAP	8295	broad.mit.edu	37	chr7	98569468	98569468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggggatcagaccagcaCgcccaaaaccaaagaacttt	8	13	1	2	rs76587346		TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr7:98569468C>T	uc003upp.2	+	52	7927	c.7718C>T	c.(7717-7719)ACG>ATG	p.T2573M	TRRAP_uc011kis.1_Missense_Mutation_p.T2555M|TRRAP_uc003upr.2_Missense_Mutation_p.T2272M	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2573					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAGACCAGCACGCCCAAAACC	0.468													T	98569468	C	T	98569468	3	4	157	1	0	0	0	0	1	0	0	0	16598	536	19	1	7862	1	TRRAP	7	98569468	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	11513269	98569468	60569195	115	83653											
CUX1	1523	broad.mit.edu	37	chr7	101839972	101839972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgcccgggatctttgccGgccccccctccttctcagtt	10	19	2	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr7:101839972G>A	uc003uyx.3	+	15	1319	c.1281G>A	c.(1279-1281)CCG>CCA	p.P427P	CUX1_uc003uys.3_Silent_p.P438P|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	427					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						GATCTTTGCCGGCCCCCCCTC	0.562													A	101839972	G	A	101839972	2	1	157	1	0	0	0	0	0	0	0	1	4064	1103	39	1		1	CUX1	7	101839972	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	3270504	101839972	57298691	116	83654											
SLC35B4	84912	broad.mit.edu	37	chr7	133984324	133984324	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taaatatcagaagccaagaaGacgaaacccggaagtggaag	11	7	1	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr7:133984324G>A	uc003vrn.2	-	8	948	c.624C>T	c.(622-624)GTC>GTT	p.V208V	SLC35B4_uc010lmk.2_Silent_p.V72V|SLC35B4_uc010lml.1_Silent_p.V140V|SLC35B4_uc003vro.3_Silent_p.V208V	NM_032826	NP_116215	Q969S0	S35B4_HUMAN	solute carrier family 35, member B4	208	Helical; (Potential).					Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			skin(1)	1						AAGCCAAGAAGACGAAACCCG	0.388													A	133984324	G	A	133984324	2	1	157	1	0	0	0	0	0	0	0	1	14578	929	33	4		4	SLC35B4	7	133984324	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	32144352	133984324	25154339	117	83655											
NUP205	23165	broad.mit.edu	37	chr7	135307657	135307657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcgagatgcttgtgatgGtcatgagattggaagggtaa	15	4	1	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr7:135307657G>A	uc003vsw.2	+	31	4494	c.4463G>A	c.(4462-4464)GGT>GAT	p.G1488D	NUP205_uc003vsx.2_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1488					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						GCTTGTGATGGTCATGAGATT	0.338													A	135307657	G	A	135307657	3	1	157	1	0	0	0	0	1	0	0	0	10759	1261	44	4	4585	4	NUP205	7	135307657	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	1323333	135307657	23831006	118	83656											
CSMD1	64478	broad.mit.edu	37	chr8	3565996	3565996	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgactcctcttgacttcaActcaatcgcctttttcactg	4	14	4	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr8:3565996A>C	uc011kwk.1	-	7	1339	c.949T>G	c.(949-951)TTG>GTG	p.L317V		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	317	Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTGACTTCAACTCAATCGCC	0.443													C	3565996	A	C	3565996	3	2	157	1	0	0	0	0	1	0	0	0	3944	40	2	5	9814	5	CSMD1	8	3565996	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08		3565996	142798026	119	83657											
DLC1	10395	broad.mit.edu	37	chr8	12958130	12958130	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccggggctggggccgtccttCgggtgggagtcgtctgggga	21	10	1	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr8:12958130C>T	uc003wwm.2	-	9	2160	c.1716G>A	c.(1714-1716)CCG>CCA	p.P572P	DLC1_uc003wwk.1_Silent_p.P135P|DLC1_uc003wwl.1_Silent_p.P169P|DLC1_uc011kxx.1_Silent_p.P61P	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	572					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GGCCGTCCTTCGGGTGGGAGT	0.632													T	12958130	C	T	12958130	2	4	157	1	0	0	0	0	0	0	0	1	4550	871	31	1		1	DLC1	8	12958130	Silent	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	9392134	12958130	133405892	120	83658											
PENK	5179	broad.mit.edu	37	chr8	57354352	57354352	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccataccttttggctagcaAatggctttcttccggtttgc	8	12	1	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr8:57354352A>T	uc003xsz.2	-	2	364	c.283T>A	c.(283-285)TTG>ATG	p.L95M	PENK_uc003xta.3_Missense_Mutation_p.L95M	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	95					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TTGGCTAGCAAATGGCTTTCT	0.493													T	57354352	A	T	57354352	3	4	157	1	0	0	0	0	1	0	0	0	11727	11	1	5	524	5	PENK	8	57354352	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	44396222	57354352	89009670	121	83659											
ZFHX4	79776	broad.mit.edu	37	chr8	77767850	77767850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggatgacaacgccgaccGcagcgaaacgtccagcatag	11	15	0	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr8:77767850G>A	uc003yav.2	+	10	8945	c.8558G>A	c.(8557-8559)CGC>CAC	p.R2853H	ZFHX4_uc003yau.1_Missense_Mutation_p.R2898H|ZFHX4_uc003yaw.1_Missense_Mutation_p.R2853H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2853						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACGCCGACCGCAGCGAAACG	0.512										HNSCC(33;0.089)			A	77767850	G	A	77767850	3	1	157	1	0	0	0	0	1	0	0	0	17632	1087	38	1	8727	1	ZFHX4	8	77767850	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	20413498	77767850	68596172	122	83660											
CNBD1	168975	broad.mit.edu	37	chr8	88365898	88365898	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acttgtttatatggggaaacTtaaggagaaggagtcctttg	12	4	0	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr8:88365898T>G	uc003ydy.2	+	10	1235	c.1187T>G	c.(1186-1188)CTT>CGT	p.L396R		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	396	cNMP.									ovary(3)	3						ATGGGGAAACTTAAGGAGAAG	0.323													G	88365898	T	G	88365898	3	3	157	1	0	0	0	0	1	0	0	0	3591	1609	56	5	1225	5	CNBD1	8	88365898	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	10598048	88365898	57998124	123	83661											
NBN	4683	broad.mit.edu	37	chr8	90993671	90993671	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaagttcgggaaaagccattCtgcattttttcctcattaac	6	9	2	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr8:90993671C>A	uc003yej.1	-	3	362	c.252G>T	c.(250-252)CAG>CAT	p.Q84H	NBN_uc003yei.1_Missense_Mutation_p.Q2H|NBN_uc011lgb.1_Missense_Mutation_p.Q84H	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	84					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AAAAGCCATTCTGCATTTTTT	0.318								Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome				A	90993671	C	A	90993671	3	1	157	1	0	0	0	0	1	0	0	0	10191	912	32	5	2068	5	NBN	8	90993671	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	2627773	90993671	55370351	124	83662											
RIMS2	9699	broad.mit.edu	37	chr8	104898096	104898096	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggctcagggaccaagttcTtatgcacaaaggaccacaaa	10	10	2	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr8:104898096T>C	uc003yls.2	+	2	844	c.603T>C	c.(601-603)TCT>TCC	p.S201S	RIMS2_uc003ylp.2_Silent_p.S423S|RIMS2_uc003ylw.2_Silent_p.S231S|RIMS2_uc003ylq.2_Silent_p.S231S|RIMS2_uc003ylr.2_Silent_p.S231S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	454					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S231S(1)		ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACCAAGTTCTTATGCACAAA	0.478										HNSCC(12;0.0054)			C	104898096	T	C	104898096	2	2	157	1	0	0	0	0	0	0	0	1	13368	1596	56	3		3	RIMS2	8	104898096	Silent	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	13904425	104898096	41465926	125	83663											
CSMD3	114788	broad.mit.edu	37	chr8	113275955	113275955	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagctcatagcctggagaacAgatgtagctaatactaaagc	9	8	1	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr8:113275955A>T	uc003ynu.2	-	61	9934	c.9775T>A	c.(9775-9777)TGT>AGT	p.C3259S	CSMD3_uc003yns.2_Missense_Mutation_p.C2461S|CSMD3_uc003ynt.2_Missense_Mutation_p.C3219S|CSMD3_uc011lhx.1_Missense_Mutation_p.C3090S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3259	Sushi 25.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCTGGAGAACAGATGTAGCTA	0.463										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113275955	A	T	113275955	3	4	157	1	0	0	0	0	1	0	0	0	3946	188	7	5	1392	5	CSMD3	8	113275955	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	8377859	113275955	33088067	126	83664											
MED30	90390	broad.mit.edu	37	chr8	118543004	118543004	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagatggctcaaagaatgatGatcgggctggcccacctcgt	12	10	1	4			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr8:118543004G>A	uc003yoj.2	+	3	530	c.379G>A	c.(379-381)GAT>AAT	p.D127N	MED30_uc011lib.1_Intron	NM_080651	NP_542382	Q96HR3	MED30_HUMAN	TRAP/Mediator complex component TRAP25	127					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding				0	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			AAAGAATGATGATCGGGCTGG	0.338													A	118543004	G	A	118543004	3	1	157	1	0	0	0	0	1	0	0	0	9448	1290	45	4	389	4	MED30	8	118543004	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	5267049	118543004	27821018	127	83665											
MYC	4609	broad.mit.edu	37	chr8	128751076	128751076	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccgccgcctcagagtgcatcGacccctcggtggtcttcccc	10	19	2	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr8:128751076G>C	uc003ysi.2	+	2	1138	c.613G>C	c.(613-615)GAC>CAC	p.D205H		NM_002467	NP_002458	P01106	MYC_HUMAN	myc proto-oncogene protein	190					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AGAGTGCATCGACCCCTCGGT	0.657		3	A|T	IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@	Burkitt lymphoma| amplified in other cancers|B-CLL						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	128751076	G	C	128751076	3	2	157	1	0	0	0	0	1	0	0	0	10016	1058	37	5	619	5	MYC	8	128751076	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	10208072	128751076	17612946	128	83666											
BNC2	54796	broad.mit.edu	37	chr9	16436469	16436469	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccctggagtgagtaaacTtctataaaatggaggaactg	10	7	1	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr9:16436469T>G	uc003zml.2	-	6	1863	c.1723A>C	c.(1723-1725)AGT>CGT	p.S575R	BNC2_uc011lmw.1_Missense_Mutation_p.S480R|BNC2_uc003zmm.2_Missense_Mutation_p.S533R|BNC2_uc003zmq.1_Missense_Mutation_p.S589R|BNC2_uc003zmr.1_Missense_Mutation_p.S612R|BNC2_uc003zmp.1_Missense_Mutation_p.S603R|BNC2_uc010mij.1_Missense_Mutation_p.S497R|BNC2_uc011lmv.1_Missense_Mutation_p.S401R|BNC2_uc003zmo.1_Missense_Mutation_p.S497R|BNC2_uc003zmj.2_Missense_Mutation_p.S340R|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.S340R|BNC2_uc003zmn.1_Missense_Mutation_p.S340R	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	575	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		GTGAGTAAACTTCTATAAAAT	0.517													G	16436469	T	G	16436469	3	3	157	1	0	0	0	0	1	0	0	0	1475	1609	56	5	1584	5	BNC2	9	16436469	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08		16436469	124776962	129	83667											
ASTN2	23245	broad.mit.edu	37	chr9	119903650	119903650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccctgccgatgtgctgcGcaggggtggttgcagctgac	15	12	0	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr9:119903650G>A	uc004bjs.1	-	4	1224	c.1123C>T	c.(1123-1125)CGC>TGC	p.R375C	ASTN2_uc004bjr.1_Missense_Mutation_p.R375C|ASTN2_uc004bjt.1_Intron	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	375	Cytoplasmic (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						GATGTGCTGCGCAGGGGTGGT	0.587													A	119903650	G	A	119903650	3	1	157	1	0	0	0	0	1	0	0	0	1065	1102	38	1		1	ASTN2	9	119903650	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	103467181	119903650	21309781	130	83668											
SETX	23064	broad.mit.edu	37	chr9	135201772	135201772	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaataatctccataattgTgaaatctgacaggcacaggt	7	7	2	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr9:135201772T>G	uc004cbk.2	-	10	5396	c.5213A>C	c.(5212-5214)CAC>CCC	p.H1738P	SETX_uc004cbj.2_Missense_Mutation_p.H1357P|SETX_uc010mzt.2_Missense_Mutation_p.H1357P	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	1738					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCCATAATTGTGAAATCTGAC	0.353													G	135201772	T	G	135201772	3	3	157	1	0	0	0	0	1	0	0	0	14141	1696	59	5	2888	5	SETX	9	135201772	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	15298122	135201772	6011659	131	83669											
CUBN	8029	broad.mit.edu	37	chr10	16932428	16932428	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgagactggaagacggcAgtgaatgtgttacttggtgt	14	6	0	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr10:16932428A>G	uc001ioo.2	-	55	8749	c.8697T>C	c.(8695-8697)ACT>ACC	p.T2899T	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Silent_p.T255T	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2899	CUB 21.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGAAGACGGCAGTGAATGTGT	0.577													G	16932428	A	G	16932428	2	3	157	1	0	0	0	0	0	0	0	1	4051	175	7	3		3	CUBN	10	16932428	Silent	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08		16932428	118602319	132	83670											
CUBN	8029	broad.mit.edu	37	chr10	17127608	17127608	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacttacaaggtgatgttaAgtaggtgatatggaagcctt	11	4	0	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr10:17127608A>C	uc001ioo.2	-	16	2150	c.2098T>G	c.(2098-2100)TTA>GTA	p.L700V		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	700	CUB 2.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTGATGTTAAGTAGGTGATA	0.443													C	17127608	A	C	17127608	3	2	157	1	0	0	0	0	1	0	0	0	4051	69	3	5	8981	5	CUBN	10	17127608	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	195180	17127608	118407139	133	83671											
GPR158	57512	broad.mit.edu	37	chr10	25755587	25755587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgttttttcagagcatccGggcatcgggccttatcctgt	10	10	1	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr10:25755587G>A	uc001isj.2	+	5	1403	c.1343G>A	c.(1342-1344)CGG>CAG	p.R448Q		NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	448	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						CAGAGCATCCGGGCATCGGGC	0.363													A	25755587	G	A	25755587	3	1	157	1	0	0	0	0	1	0	0	0	6663	1116	39	1	1361	1	GPR158	10	25755587	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	8627979	25755587	109779160	134	83672											
LYZL2	119180	broad.mit.edu	37	chr10	30915179	30915179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtagccgctctcataataCgccatgcagatccctggagg	10	12	1	1	rs150345728	by1000genomes	TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr10:30915179C>T	uc001ivk.2	-	3	304	c.291G>A	c.(289-291)GCG>GCA	p.A97A		NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	51					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0		Prostate(175;0.151)				TCTCATAATACGCCATGCAGA	0.557													T	30915179	C	T	30915179	2	4	157	1	0	0	0	0	0	0	0	1	9132	523	19	1		1	LYZL2	10	30915179	Silent	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	5159592	30915179	104619568	135	83673											
RET	5979	broad.mit.edu	37	chr10	43610164	43610164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggagaaccaggtctccGtggatgccttcaagatcctg	11	12	2	2	rs137855422		TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr10:43610164G>A	uc001jal.2	+	11	2306	c.2116G>A	c.(2116-2118)GTG>ATG	p.V706M	RET_uc001jak.1_Missense_Mutation_p.V706M|RET_uc010qez.1_Missense_Mutation_p.V452M	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	706	Cytoplasmic (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCAGGTCTCCGTGGATGCCTT	0.677		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				A	43610164	G	A	43610164	3	1	157	1	0	0	0	0	1	0	0	0	13235	1145	40	1	2158	1	RET	10	43610164	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	12694985	43610164	91924583	136	83674											
PCDH15	65217	broad.mit.edu	37	chr10	55700715	55700715	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatggtccctttggtggcaAgttcacttactggaggaggt	13	9	1	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr10:55700715A>C	uc001jju.1	-	24	3538	c.3143T>G	c.(3142-3144)CTT>CGT	p.L1048R	PCDH15_uc010qhq.1_Missense_Mutation_p.L1053R|PCDH15_uc010qhr.1_Missense_Mutation_p.L1048R|PCDH15_uc010qhs.1_Missense_Mutation_p.L1060R|PCDH15_uc010qht.1_Missense_Mutation_p.L1055R|PCDH15_uc010qhu.1_Missense_Mutation_p.L1048R|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.L1048R|PCDH15_uc010qhw.1_Missense_Mutation_p.L1011R|PCDH15_uc010qhx.1_Missense_Mutation_p.L977R|PCDH15_uc010qhy.1_Missense_Mutation_p.L1053R|PCDH15_uc010qhz.1_Missense_Mutation_p.L1048R|PCDH15_uc010qia.1_Missense_Mutation_p.L1026R|PCDH15_uc010qib.1_Missense_Mutation_p.L1026R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1048	Cadherin 10.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTGGTGGCAAGTTCACTTAC	0.308										HNSCC(58;0.16)			C	55700715	A	C	55700715	3	2	157	1	0	0	0	0	1	0	0	0	11511	72	3	5	4383	5	PCDH15	10	55700715	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	12090551	55700715	79834032	137	83675											
HERC4	26091	broad.mit.edu	37	chr10	69684937	69684937	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaatattcccctttgtatTctgtattctaaaaacaacat	2	11	2	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr10:69684937T>G	uc001jng.3	-	25	3181	c.2870A>C	c.(2869-2871)GAA>GCA	p.E957A	HERC4_uc009xpq.2_Missense_Mutation_p.E489A|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.E949A|HERC4_uc009xpr.2_Missense_Mutation_p.E879A|HERC4_uc001jni.3_Missense_Mutation_p.E693A	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	957	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						CCCTTTGTATTCTGTATTCTA	0.328													G	69684937	T	G	69684937	3	3	157	1	0	0	0	0	1	0	0	0	7060	1783	62	5	311	5	HERC4	10	69684937	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	13984222	69684937	65849810	138	83676											
POLR3A	11128	broad.mit.edu	37	chr10	79777454	79777454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctcttgagccatcttttctCgatttccgtatttcaaaaac	5	11	4	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr10:79777454C>T	uc001jzn.2	-	10	1404	c.1310G>A	c.(1309-1311)CGA>CAA	p.R437Q		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	437					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CATCTTTTCTCGATTTCCGTA	0.438													T	79777454	C	T	79777454	3	4	157	1	0	0	0	0	1	0	0	0	12228	884	31	1	2950	1	POLR3A	10	79777454	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	10092517	79777454	55757293	139	83677											
GRID1	2894	broad.mit.edu	37	chr10	87966198	87966198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcatgacatcattgaggCggacgggtggtctcgaagcc	15	9	2	3	rs150264113	by1000genomes	TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr10:87966198C>T	uc001kdl.1	-	3	544	c.443G>A	c.(442-444)CGC>CAC	p.R148H	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	148	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	ATCATTGAGGCGGACGGGTGG	0.622										Multiple Myeloma(13;0.14)			T	87966198	C	T	87966198	3	4	157	1	0	0	0	0	1	0	0	0	6771	768	27	1	2642	1	GRID1	10	87966198	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	8188744	87966198	47568549	140	83678											
CPXM2	119587	broad.mit.edu	37	chr10	125622198	125622198	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgtggaggcatggagctggaAgtctgtgatttttaaggttt	15	4	1	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr10:125622198A>T	uc001lhk.1	-	3	770	c.445T>A	c.(445-447)TTC>ATC	p.F149I	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	149	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TGGAGCTGGAAGTCTGTGATT	0.502													T	125622198	A	T	125622198	3	4	157	1	0	0	0	0	1	0	0	0	3838	72	3	5	1873	5	CPXM2	10	125622198	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	37656000	125622198	9912549	141	83679											
OR52N1	79473	broad.mit.edu	37	chr11	5809914	5809914	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaggtacataaggccgaAgttccctgtaatagcaatgc	11	8	0	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr11:5809914A>C	uc010qzo.1	-	1	133	c.133T>G	c.(133-135)TTC>GTC	p.F45V	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATAAGGCCGAAGTTCCCTGTA	0.463													C	5809914	A	C	5809914	3	2	157	1	0	0	0	0	1	0	0	0	11127	72	3	5	832	5	OR52N1	11	5809914	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08		5809914	129196602	142	83680											
ZNF215	7762	broad.mit.edu	37	chr11	6977491	6977491	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttactaagcatcaaaaacTtcatgctgaagcaaaggcct	6	11	2	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr11:6977491T>G	uc001mey.2	+	7	1871	c.1283T>G	c.(1282-1284)CTT>CGT	p.L428R	ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Missense_Mutation_p.L190R|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	zinc finger protein 215	428	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CATCAAAAACTTCATGCTGAA	0.393													G	6977491	T	G	6977491	3	3	157	1	0	0	0	0	1	0	0	0	17768	1609	56	5	1301	5	ZNF215	11	6977491	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	1167577	6977491	128029025	143	83681											
OR4C11	219429	broad.mit.edu	37	chr11	55371231	55371231	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcaaaatcatgaaactacTtgagcaaattgccccactgt	5	10	2	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr11:55371231T>G	uc010rii.1	-	1	619	c.619A>C	c.(619-621)AGT>CGT	p.S207R		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	207	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ATGAAACTACTTGAGCAAATT	0.423													G	55371231	T	G	55371231	3	3	157	1	0	0	0	0	1	0	0	0	11045	1609	56	5	315	5	OR4C11	11	55371231	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	48393740	55371231	79635285	144	83682											
RTN3	10313	broad.mit.edu	37	chr11	63487876	63487876	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgacaacatctgcctaTttggagtcattacatgggaa	9	7	2	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr11:63487876T>C	uc001nxq.2	+	3	2089	c.1902T>C	c.(1900-1902)TAT>TAC	p.Y634Y	RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Silent_p.Y615Y|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Silent_p.Y522Y|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	634					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1						CATCTGCCTATTTGGAGTCAT	0.373													C	63487876	T	C	63487876	2	2	157	1	0	0	0	0	0	0	0	1	13727	1500	52	3		3	RTN3	11	63487876	Silent	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	8116645	63487876	71518640	145	83683											
C2CD3	26005	broad.mit.edu	37	chr11	73811600	73811600	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaaactggtggaggggaAgtttcaccagcccgagcagc	14	9	1	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr11:73811600A>C	uc001ouu.2	-	15	2929	c.2702T>G	c.(2701-2703)CTT>CGT	p.L901R		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	901						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					GTGGAGGGGAAGTTTCACCAG	0.418													C	73811600	A	C	73811600	3	2	157	1	0	0	0	0	1	0	0	0	2154	72	3	5	3257	5	C2CD3	11	73811600	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	10323724	73811600	61194916	146	83684											
USP35	57558	broad.mit.edu	37	chr11	77907439	77907439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgggcgcgcgcctctacGtgggcggcgcggaggagctg	20	13	1	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr11:77907439G>A	uc009yva.1	+	2	394	c.148G>A	c.(148-150)GTG>ATG	p.V50M	USP35_uc001oze.2_Intron|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_Translation_Start_Site|USP35_uc001ozf.2_5'Flank	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	50					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GCGCCTCTACGTGGGCGGCGC	0.766													A	77907439	G	A	77907439	3	1	157	1	0	0	0	0	1	0	0	0	17063	1145	40	1	150	1	USP35	11	77907439	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	4095839	77907439	57099077	147	83685											
PDGFD	80310	broad.mit.edu	37	chr11	103797824	103797824	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggagtgcaactgtaacgcTtggcatcatcattgagccta	11	9	2	1	rs138058754		TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr11:103797824T>C	uc001phq.2	-	6	1175	c.803A>G	c.(802-804)AAG>AGG	p.K268R	PDGFD_uc001php.2_Missense_Mutation_p.K262R	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	268					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		ACTGTAACGCTTGGCATCATC	0.468													C	103797824	T	C	103797824	3	2	157	1	0	0	0	0	1	0	0	0	11660	1609	56	3	317	3	PDGFD	11	103797824	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	25890385	103797824	31208692	148	83686											
ARHGAP20	57569	broad.mit.edu	37	chr11	110450220	110450220	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaggcagagaaccagaAgagctctgactaccaggctc	10	13	1	4			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr11:110450220A>C	uc001pkz.1	-	16	3735	c.3450T>G	c.(3448-3450)TCT>TCG	p.S1150S	ARHGAP20_uc001pky.1_Silent_p.S1127S|ARHGAP20_uc009yyb.1_Silent_p.S1114S|ARHGAP20_uc001pla.1_Silent_p.S1114S|ARHGAP20_uc001plb.2_Silent_p.S693S	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1150					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GAGAACCAGAAGAGCTCTGAC	0.537													C	110450220	A	C	110450220	2	2	157	1	0	0	0	0	0	0	0	1	870	59	3	5		5	ARHGAP20	11	110450220	Silent	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	6652396	110450220	24556296	149	83687											
OR4D5	219875	broad.mit.edu	37	chr11	123810804	123810804	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccactccatagtacagattGcattgactatccagctgcca	6	13	0	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr11:123810804G>T	uc001pzk.1	+	1	481	c.481G>T	c.(481-483)GCA>TCA	p.A161S		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D,	161	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGTACAGATTGCATTGACTAT	0.507													T	123810804	G	T	123810804	3	4	157	1	0	0	0	0	1	0	0	0	11057	1319	46	5	483	5	OR4D5	11	123810804	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	13360584	123810804	11195712	150	83688											
OR10S1	219873	broad.mit.edu	37	chr11	123847867	123847867	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccacagtagagcaggcggaAggtgagggaggtgtggattg	19	6	0	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr11:123847867A>G	uc001pzm.1	-	1	532	c.532T>C	c.(532-534)TTC>CTC	p.F178L		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	178	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGCAGGCGGAAGGTGAGGGAG	0.557													G	123847867	A	G	123847867	3	3	157	1	0	0	0	0	1	0	0	0	10918	72	3	3	467	3	OR10S1	11	123847867	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	37063	123847867	11158649	151	83689											
THYN1	29087	broad.mit.edu	37	chr11	134118356	134118356	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttggttccttttcctccagGctcaaaacaaaatcaaactc	4	13	2	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr11:134118356G>T	uc001qhf.2	-	8	756	c.654C>A	c.(652-654)AGC>AGA	p.S218R	THYN1_uc001qhg.2_Missense_Mutation_p.S218R|THYN1_uc001qhh.2_Missense_Mutation_p.S218R|THYN1_uc001qhi.2_3'UTR|THYN1_uc001qhj.2_3'UTR	NM_001037305	NP_001032382	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1 isoform 1	218						nucleus					0	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		TTTCCTCCAGGCTCAAAACAA	0.418													T	134118356	G	T	134118356	3	4	157	1	0	0	0	0	1	0	0	0	15883	1194	42	5	27	5	THYN1	11	134118356	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	10270489	134118356	888160	152	83690											
B3GAT1	27087	broad.mit.edu	37	chr11	134257495	134257495	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggtgccagacagtgatgAgcagagtccagggcagcacg	15	10	1	4			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr11:134257495A>G	uc001qhq.2	-	3	320	c.59T>C	c.(58-60)CTC>CCC	p.L20P	B3GAT1_uc001qhr.2_Missense_Mutation_p.L20P|B3GAT1_uc010scv.1_Missense_Mutation_p.L33P	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	20	Helical; Signal-anchor for type II membrane protein; (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GACAGTGATGAGCAGAGTCCA	0.627													G	134257495	A	G	134257495	3	3	157	1	0	0	0	0	1	0	0	0	1253	304	11	3	961	3	B3GAT1	11	134257495	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	139139	134257495	749021	153	83691											
DCP1B	196513	broad.mit.edu	37	chr12	2102462	2102462	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtagagaaggaaagggtccTggagttggaaatccaagtct	14	5	1	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:2102462T>C	uc001qjx.1	-	3	367	c.287A>G	c.(286-288)CAG>CGG	p.Q96R	DCP1B_uc010sdy.1_5'UTR|DCP1B_uc010sdz.1_Missense_Mutation_p.Q96R	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	96					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GAAAGGGTCCTGGAGTTGGAA	0.398													C	2102462	T	C	2102462	3	2	157	1	0	0	0	0	1	0	0	0	4299	1580	55	3	1594	3	DCP1B	12	2102462	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08		2102462	131749433	154	83692											
CLEC2B	9976	broad.mit.edu	37	chr12	10005914	10005914	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaacttagtgtattcttttCctgcaaatccattttctttc	3	9	2	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:10005914C>T	uc001qwn.2	-	5	1092	c.435G>A	c.(433-435)AGG>AGA	p.R145R		NM_005127	NP_005118	Q92478	CLC2B_HUMAN	C-type lectin, superfamily member 2	145	C-type lectin.|Extracellular (Potential).					integral to plasma membrane	sugar binding				0						GTATTCTTTTCCTGCAAATCC	0.363													T	10005914	C	T	10005914	2	4	157	1	0	0	0	0	0	0	0	1	3507	854	30	4		4	CLEC2B	12	10005914	Silent	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	7903452	10005914	123845981	155	83693											
CLEC9A	283420	broad.mit.edu	37	chr12	10213760	10213760	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accattgcgatgcagcagcaAgaaaaactcatccaacaaga	7	11	1	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:10213760A>C	uc001qxa.2	+	6	820	c.207A>C	c.(205-207)CAA>CAC	p.Q69H		NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	69	Extracellular (Potential).				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			ovary(1)	1						TGCAGCAGCAAGAAAAACTCA	0.403													C	10213760	A	C	10213760	3	2	157	1	0	0	0	0	1	0	0	0	3522	69	3	5	217	5	CLEC9A	12	10213760	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	207846	10213760	123638135	156	83694											
C12orf39	80763	broad.mit.edu	37	chr12	21679829	21679829	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcatatagggactcagaAgtctggcagcaacaaccttg	10	10	3	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:21679829A>C	uc001rfa.1	+	2	167	c.16A>C	c.(16-18)AGT>CGT	p.S6R	C12orf39_uc009ziv.1_5'Flank|C12orf39_uc009ziw.1_5'Flank	NM_030572	NP_085049	Q9BT56	SPXN_HUMAN	spexin precursor	6						extracellular region|nucleus|transport vesicle					0						GGGACTCAGAAGTCTGGCAGC	0.443													C	21679829	A	C	21679829	3	2	157	1	0	0	0	0	1	0	0	0	1684	72	3	5	22	5	C12orf39	12	21679829	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	11466069	21679829	112172066	157	83695											
PLEKHA9	51054	broad.mit.edu	37	chr12	45567563	45567563	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtgttcatggtactaaAgaaagttgggataacttctt	10	5	2	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:45567563A>C	uc001rom.1	-	3	1123	c.586T>G	c.(586-588)TTT>GTT	p.F196V	PLEKHA9_uc009zke.2_Missense_Mutation_p.F196V	NM_015899	NP_056983			pleckstrin homology domain containing, family A												0	Lung SC(27;0.192)|Renal(347;0.236)			GBM - Glioblastoma multiforme(48;0.173)		ATGGTACTAAAGAAAGTTGGG	0.438													C	45567563	A	C	45567563	3	2	157	1	0	0	0	0	1	0	0	0	12063	72	3	5	593	5	PLEKHA9	12	45567563	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	23887734	45567563	88284332	158	83696											
MAP3K12	7786	broad.mit.edu	37	chr12	53876660	53876660	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgacagcaggtctggggAcgatgaagacattttgcgga	15	7	1	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:53876660A>G	uc001sdm.1	-	12	1926	c.1828T>C	c.(1828-1830)TCC>CCC	p.S610P	MAP3K12_uc001sdn.1_Missense_Mutation_p.S643P	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	610					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						AGGTCTGGGGACGATGAAGAC	0.706													G	53876660	A	G	53876660	3	3	157	1	0	0	0	0	1	0	0	0	9246	275	10	3	767	3	MAP3K12	12	53876660	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	8309097	53876660	79975235	159	83697											
ATP5B	506	broad.mit.edu	37	chr12	57037207	57037207	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttagaggtggcatcttttaAgttgataacaccagattcaa	8	7	2	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:57037207A>C	uc001slr.2	-	5	877	c.772T>G	c.(772-774)TTA>GTA	p.L258V		NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	258					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1						GCATCTTTTAAGTTGATAACA	0.418													C	57037207	A	C	57037207	3	2	157	1	0	0	0	0	1	0	0	0	1148	69	3	5	841	5	ATP5B	12	57037207	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	3160547	57037207	76814688	160	83698											
RDH16	8608	broad.mit.edu	37	chr12	57351064	57351064	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgctcggctcctttctccgtCagacatgcagccagcacccg	9	17	2	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:57351064C>T	uc001smi.3	-	1	355	c.183G>A	c.(181-183)CTG>CTA	p.L61L	RDH16_uc009zpa.2_Missense_Mutation_p.D3N|RDH16_uc010sqx.1_RNA	NM_003708	NP_003699	O75452	RDH16_HUMAN	retinol dehydrogenase 16	61	Cytoplasmic (Potential).				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity				0						CTTTCTCCGTCAGACATGCAG	0.597													T	57351064	C	T	57351064	2	4	157	1	0	0	0	0	0	0	0	1	13194	813	29	4		4	RDH16	12	57351064	Silent	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	313857	57351064	76500831	161	83699											
KIF5A	3798	broad.mit.edu	37	chr12	57972098	57972098	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctttcttgagaacaacctGgaacagcttacaaaggttca	7	10	2	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:57972098G>A	uc001sor.1	+	23	2719	c.2511G>A	c.(2509-2511)CTG>CTA	p.L837L	KIF5A_uc010srr.1_Silent_p.L748L	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	837					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3						AGAACAACCTGGAACAGCTTA	0.473													A	57972098	G	A	57972098	2	1	157	1	0	0	0	0	0	0	0	1	8305	1335	47	4		4	KIF5A	12	57972098	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	621034	57972098	75879797	162	83700											
TSFM	10102	broad.mit.edu	37	chr12	58180066	58180066	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggaaacacaactgtaTtagtagaggtgagttgttgg	14	3	0	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:58180066T>C	uc001sqi.2	+	3	401	c.352T>C	c.(352-354)TTA>CTA	p.L118L	TSFM_uc010sse.1_Silent_p.L78L|TSFM_uc001sqh.2_Silent_p.L118L|TSFM_uc010ssf.1_Silent_p.L118L	NM_005726	NP_005717	P43897	EFTS_HUMAN	Ts translation elongation factor, mitochondrial	118					regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity				0	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CACAACTGTATTAGTAGAGGT	0.507													C	58180066	T	C	58180066	2	2	157	1	0	0	0	0	0	0	0	1	16612	1490	52	3		3	TSFM	12	58180066	Silent	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	207968	58180066	75671829	163	83701											
ANO4	121601	broad.mit.edu	37	chr12	101437374	101437374	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtgtgataaatactgTccattcatgaggctgtcaga	10	8	2	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:101437374T>C	uc010svm.1	+	13	1784	c.1212T>C	c.(1210-1212)TGT>TGC	p.C404C	ANO4_uc001thw.2_Silent_p.C369C|ANO4_uc001thx.2_Silent_p.C404C	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	404	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						ATAAATACTGTCCATTCATGA	0.388										HNSCC(74;0.22)			C	101437374	T	C	101437374	2	2	157	1	0	0	0	0	0	0	0	1	699	1673	58	3		3	ANO4	12	101437374	Silent	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	43257308	101437374	32414521	164	83702											
SLC15A4	121260	broad.mit.edu	37	chr12	129294499	129294499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accactcacttggaaatacaCtgtccagtaaggtatcaaag	7	10	2	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:129294499C>T	uc001uhu.2	-	3	1053	c.1000G>A	c.(1000-1002)GTG>ATG	p.V334M	SLC15A4_uc001uhv.2_Intron	NM_145648	NP_663623	Q8N697	S15A4_HUMAN	solute carrier family 15, member 4	334	Helical; (Potential).				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		TGGAAATACACTGTCCAGTAA	0.413													T	129294499	C	T	129294499	3	4	157	1	0	0	0	0	1	0	0	0	14401	565	20	4	757	4	SLC15A4	12	129294499	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	27857125	129294499	4557396	165	83703											
FZD10	11211	broad.mit.edu	37	chr12	130648416	130648416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggagagcaccggctgcaCgctggtcttcctggtcctct	12	14	2	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:130648416C>T	uc001uii.2	+	1	1385	c.929C>T	c.(928-930)ACG>ATG	p.T310M	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	310	Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		ACCGGCTGCACGCTGGTCTTC	0.662													T	130648416	C	T	130648416	3	4	157	1	0	0	0	0	1	0	0	0	6129	536	19	1	931	1	FZD10	12	130648416	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	1353917	130648416	3203479	166	83704											
TNFRSF19	55504	broad.mit.edu	37	chr13	24243121	24243121	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcagctactgatttatctaGatataacaacacactggtag	7	8	1	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr13:24243121G>T	uc001uov.1	+	9	1194	c.1130G>T	c.(1129-1131)AGA>ATA	p.R377I	TNFRSF19_uc001uot.2_Missense_Mutation_p.R377I|TNFRSF19_uc010tcu.1_Missense_Mutation_p.R245I|TNFRSF19_uc001uow.2_Missense_Mutation_p.R377I	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily,	377	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			kidney(1)|skin(1)	2		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GATTTATCTAGATATAACAAC	0.443													T	24243121	G	T	24243121	3	4	157	1	0	0	0	0	1	0	0	0	16289	942	33	5	1160	5	TNFRSF19	13	24243121	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08		24243121	90926757	167	83705											
TRPC4	7223	broad.mit.edu	37	chr13	38229240	38229240	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttacagcaatcagttggtaAgaattattcatcatagctat	6	7	3	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr13:38229240A>T	uc001uws.2	-	7	2104	c.1869T>A	c.(1867-1869)TCT>TCA	p.S623S	TRPC4_uc010abv.2_Silent_p.S203S|TRPC4_uc001uwt.2_Silent_p.S623S|TRPC4_uc010tey.1_Silent_p.S623S|TRPC4_uc010abw.2_Silent_p.S450S|TRPC4_uc010abx.2_Silent_p.S623S|TRPC4_uc010aby.2_Silent_p.S623S	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	623	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCAGTTGGTAAGAATTATTCA	0.343													T	38229240	A	T	38229240	2	4	157	1	0	0	0	0	0	0	0	1	16577	59	3	5		5	TRPC4	13	38229240	Silent	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	13986119	38229240	76940638	168	83706											
RB1	5925	broad.mit.edu	37	chr13	49039378	49039378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatacctcacattcctcgaaGcccttacaagtttcctagtt	4	13	1	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr13:49039378G>A	uc001vcb.2	+	23	2529	c.2363G>A	c.(2362-2364)AGC>AAC	p.S788N		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	788	Interaction with LIMD1.|Domain C; mediates interaction with E4F1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(7)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATTCCTCGAAGCCCTTACAAG	0.398		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			A	49039378	G	A	49039378	3	1	157	1	0	0	0	0	1	0	0	0	13098	971	34	2	2453	2	RB1	13	49039378	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	10810138	49039378	66130500	169	83707											
TRIM13	10206	broad.mit.edu	37	chr13	50586183	50586183	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaaaaaatgcttagaagGtatcttagaagggagtgtgc	12	5	1	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr13:50586183G>C	uc001vdq.1	+	3	420	c.107G>C	c.(106-108)GGT>GCT	p.G36A	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|TRIM13_uc001vdp.1_Missense_Mutation_p.G39A|TRIM13_uc001vdr.1_Missense_Mutation_p.G36A|TRIM13_uc001vds.1_Missense_Mutation_p.G36A	NM_052811	NP_434698	O60858	TRI13_HUMAN	ret finger protein 2 isoform 1	36	RING-type.				anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TGCTTAGAAGGTATCTTAGAA	0.448													C	50586183	G	C	50586183	3	2	157	1	0	0	0	0	1	0	0	0	16485	1261	44	5	122	5	TRIM13	13	50586183	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	1546805	50586183	64583695	170	83708											
OR11H4	390442	broad.mit.edu	37	chr14	20711736	20711736	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgtggtatctcttttctaTgggacagtcatggtaatgta	11	5	3	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr14:20711736T>G	uc010tld.1	+	1	786	c.786T>G	c.(784-786)TAT>TAG	p.Y262*		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H,	262	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CTCTTTTCTATGGGACAGTCA	0.423													G	20711736	T	G	20711736	4	3	157	1	0	0	0	0	0	1	0	0	10928	1471	51	5	788	5	OR11H4	14	20711736	Nonsense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08		20711736	86637804	171	83709											
NYNRIN	57523	broad.mit.edu	37	chr14	24879194	24879194	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccagtccagtggcaccttgGccctcagcagtaagcaccag	10	16	1	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr14:24879194G>C	uc001wpf.3	+	4	2512	c.2194G>C	c.(2194-2196)GCC>CCC	p.A732P		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	732					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						TGGCACCTTGGCCCTCAGCAG	0.627													C	24879194	G	C	24879194	3	2	157	1	0	0	0	0	1	0	0	0	10796	1203	42	5	2204	5	NYNRIN	14	24879194	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	4167458	24879194	82470346	172	83710											
GZMH	2999	broad.mit.edu	37	chr14	25075923	25075923	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agaataccttgggctacgtcCttacacacgaggggcccccc	10	15	0	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr14:25075923C>G	uc001wpr.1	-	5	672	c.627G>C	c.(625-627)AAG>AAC	p.K209N	GZMH_uc010aly.1_Missense_Mutation_p.K123N|GZMH_uc010alz.1_Missense_Mutation_p.R78T	NM_033423	NP_219491	P20718	GRAH_HUMAN	granzyme H precursor	209	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(265;0.0267)		GGGCTACGTCCTTACACACGA	0.512													G	25075923	C	G	25075923	3	3	157	1	0	0	0	0	1	0	0	0	6917	680	24	5	117	5	GZMH	14	25075923	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	196729	25075923	82273617	173	83711											
MDGA2	161357	broad.mit.edu	37	chr14	47426781	47426781	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctctcagtactctgcaacTcatagtgacacttcgatcct	7	13	3	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr14:47426781T>G	uc001wwj.3	-	9	1874	c.1678A>C	c.(1678-1680)AGT>CGT	p.S560R	MDGA2_uc001wwi.3_Missense_Mutation_p.S331R|MDGA2_uc010ani.2_Missense_Mutation_p.S120R	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	560	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						ACTCTGCAACTCATAGTGACA	0.453													G	47426781	T	G	47426781	3	3	157	1	0	0	0	0	1	0	0	0	9407	1551	54	5	1228	5	MDGA2	14	47426781	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	22350858	47426781	59922759	174	83712											
NAA30	122830	broad.mit.edu	37	chr14	57858422	57858422	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctatagatattttatccaCaactggccacagctgtgctt	6	11	0	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr14:57858422C>A	uc001xcx.3	+	2	901	c.747C>A	c.(745-747)CAC>CAA	p.H249Q	NAA30_uc010trk.1_Intron|NAA30_uc010aow.2_Intron	NM_001011713	NP_001011713	Q147X3	NAA30_HUMAN	N-acetyltransferase 12	249	N-acetyltransferase.					cytoplasm	peptide alpha-N-acetyltransferase activity			skin(1)	1						ATTTTATCCACAACTGGCCAC	0.473													A	57858422	C	A	57858422	3	1	157	1	0	0	0	0	1	0	0	0	10122	477	17	5	749	5	NAA30	14	57858422	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	10431641	57858422	49491118	175	83713											
ZBTB1	22890	broad.mit.edu	37	chr14	64989463	64989463	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctaacaacagcagtccagTacaagaggatgctgaaaatg	9	10	0	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr14:64989463T>G	uc001xhh.3	+	4	1672	c.1241T>G	c.(1240-1242)GTA>GGA	p.V414G	ZBTB1_uc010aqg.2_Missense_Mutation_p.V414G|ZBTB1_uc001xhi.2_Missense_Mutation_p.V414G	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1 isoform	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		AGCAGTCCAGTACAAGAGGAT	0.413													G	64989463	T	G	64989463	3	3	157	1	0	0	0	0	1	0	0	0	17519	1638	57	5	1243	5	ZBTB1	14	64989463	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	7131041	64989463	42360077	176	83714											
RBM25	58517	broad.mit.edu	37	chr14	73577559	73577559	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggaacaagaggctgagagGcgcaggcagccacaaataaa	13	8	0	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr14:73577559G>A	uc001xno.2	+	15	1921	c.1713G>A	c.(1711-1713)AGG>AGA	p.R571R	RBM25_uc010ttu.1_Silent_p.R571R|RBM25_uc001xnp.2_Silent_p.R366R	NM_021239	NP_067062	P49756	RBM25_HUMAN	RNA binding motif protein 25	571	Necessary for nuclear speckle localization.|Glu-rich.			RRRQ -> EAQE (in Ref. 8; AAC41999).	apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AGGCTGAGAGGCGCAGGCAGC	0.303													A	73577559	G	A	73577559	2	1	157	1	0	0	0	0	0	0	0	1	13125	1194	42	2		2	RBM25	14	73577559	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	8588096	73577559	33771981	177	83715											
SERPINA12	145264	broad.mit.edu	37	chr14	94964633	94964633	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttccatccttggacctcGctcaaagctttataattcct	5	13	1	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr14:94964633G>A	uc001ydj.2	-	3	898	c.102C>T	c.(100-102)AGC>AGT	p.S34S		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	34					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(2)|ovary(1)|lung(1)	4				COAD - Colon adenocarcinoma(157;0.235)		CTTGGACCTCGCTCAAAGCTT	0.498													A	94964633	G	A	94964633	2	1	157	1	0	0	0	0	0	0	0	1	14089	1078	38	1		1	SERPINA12	14	94964633	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	21387074	94964633	12384907	178	83716											
CDC42BPB	9578	broad.mit.edu	37	chr14	103447159	103447159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagttggatgtgtcagagGgactgctcacatcaggaata	13	7	3	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr14:103447159G>A	uc001ymi.1	-	8	1323	c.1091C>T	c.(1090-1092)CCC>CTC	p.P364L		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	364	AGC-kinase C-terminal.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGTGTCAGAGGGACTGCTCAC	0.458													A	103447159	G	A	103447159	3	1	157	1	0	0	0	0	1	0	0	0	3073	1232	43	4	4164	4	CDC42BPB	14	103447159	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	8482526	103447159	3902381	179	83717											
AHNAK2	113146	broad.mit.edu	37	chr14	105421322	105421322	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgccctgtgggccgtgcTgggcatcgctggaagcccac	14	15	0	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr14:105421322T>C	uc010axc.1	-	6	743	c.623A>G	c.(622-624)CAG>CGG	p.Q208R	AHNAK2_uc001ypx.2_Missense_Mutation_p.Q108R	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	208						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)			TGGGCCGTGCTGGGCATCGCT	0.602													C	105421322	T	C	105421322	3	2	157	1	0	0	0	0	1	0	0	0	415	1580	55	3	16772	3	AHNAK2	14	105421322	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	1974163	105421322	1928218	180	83718											
ATP10A	57194	broad.mit.edu	37	chr15	25924926	25924926	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accggctgctgtgtgtgccaAgaaggctgggacaggggcac	17	10	0	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr15:25924926A>G	uc010ayu.2	-	21	4168	c.4062T>C	c.(4060-4062)TCT>TCC	p.S1354S		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1354	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GTGTGTGCCAAGAAGGCTGGG	0.642													G	25924926	A	G	25924926	2	3	157	1	0	0	0	0	0	0	0	1	1116	59	3	3		3	ATP10A	15	25924926	Silent	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08		25924926	76606466	181	83719											
CASC4	113201	broad.mit.edu	37	chr15	44695301	44695301	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccatgaaacccacctctaAgttttttggttgaatttgtg	7	8	1	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr15:44695301A>C	uc001zto.1	+	9	1588	c.1289A>C	c.(1288-1290)AAG>ACG	p.K430T	CASC4_uc001ztp.2_Intron|CASC4_uc001ztq.2_Intron	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4 isoform a	430	Lumenal (Potential).					integral to membrane				ovary(1)	1		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		CCCACCTCTAAGTTTTTTGGT	0.368													C	44695301	A	C	44695301	3	2	157	1	0	0	0	0	1	0	0	0	2662	87	3	5		5	CASC4	15	44695301	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	18770375	44695301	57836091	182	83720											
DUOXA2	405753	broad.mit.edu	37	chr15	45408922	45408922	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacactacgcctcggccacGctatggtaagtgctggaggg	15	11	0	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr15:45408922G>A	uc001zuo.2	+	4	829	c.549G>A	c.(547-549)ACG>ACA	p.T183T	DUOX2_uc010bea.2_5'Flank|DUOX2_uc001zun.2_5'Flank|DUOXA2_uc010beb.2_RNA	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN	dual oxidase activator 2	183	Extracellular (Potential).				protein transport	endoplasmic reticulum membrane|integral to membrane					0		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CCTCGGCCACGCTATGGTAAG	0.647													A	45408922	G	A	45408922	2	1	157	1	0	0	0	0	0	0	0	1	4803	1074	38	1		1	DUOXA2	15	45408922	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	713621	45408922	57122470	183	83721											
KIAA1370	56204	broad.mit.edu	37	chr15	52902400	52902400	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttatgttgttgaattcttttCtcataaaggccaatattagt	6	5	2	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr15:52902400C>T	uc002acg.3	-	6	864	c.711G>A	c.(709-711)GAG>GAA	p.E237E	KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Silent_p.E149E|KIAA1370_uc010ugf.1_Silent_p.E244E	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	237											0				all cancers(107;0.0803)		GAATTCTTTTCTCATAAAGGC	0.388													T	52902400	C	T	52902400	2	4	157	1	0	0	0	0	0	0	0	1	8226	912	32	4		4	KIAA1370	15	52902400	Silent	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	7493478	52902400	49628992	184	83722											
IGDCC4	57722	broad.mit.edu	37	chr15	65688265	65688265	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcggcagcgcacgccattcCcgcgctgttctcagccacgc	11	19	1	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr15:65688265C>G	uc002aou.1	-	7	1444	c.1234G>C	c.(1234-1236)GGA>CGA	p.G412R	IGDCC4_uc002aot.1_5'UTR	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	412	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						CACGCCATTCCCGCGCTGTTC	0.716													G	65688265	C	G	65688265	3	3	157	1	0	0	0	0	1	0	0	0	7569	632	22	5	2574	5	IGDCC4	15	65688265	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	12785865	65688265	36843127	185	83723											
KIAA1024	23251	broad.mit.edu	37	chr15	79750473	79750473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgacagtgcctctcccCggatgttccacgcacacagt	9	15	1	2	rs147214893		TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr15:79750473C>T	uc002bew.1	+	2	2059	c.1984C>T	c.(1984-1986)CGG>TGG	p.R662W	KIAA1024_uc010unk.1_Missense_Mutation_p.R662W	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	662						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						TGCCTCTCCCCGGATGTTCCA	0.542													T	79750473	C	T	79750473	3	4	157	1	0	0	0	0	1	0	0	0	8205	643	23	1	1986	1	KIAA1024	15	79750473	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	14062208	79750473	22780919	186	83724											
AGBL1	123624	broad.mit.edu	37	chr15	86791088	86791088	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggcagcacagggcatggAgatcctcttcagcaccacac	10	15	2	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr15:86791088A>G	uc002blz.1	+	6	655	c.575A>G	c.(574-576)GAG>GGG	p.E192G		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	192					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						CAGGGCATGGAGATCCTCTTC	0.612													G	86791088	A	G	86791088	3	3	157	1	0	0	0	0	1	0	0	0	375	304	11	3	593	3	AGBL1	15	86791088	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	7040615	86791088	15740304	187	83725											
ITFG3	83986	broad.mit.edu	37	chr16	304607	304607	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcctttttgtggtgttcgtCgtctcattcgtcatcccgtg	10	11	2	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr16:304607C>T	uc002cgf.2	+	3	390	c.195C>T	c.(193-195)GTC>GTT	p.V65V	ITFG3_uc010bqr.2_Intron|ITFG3_uc002cgg.2_Silent_p.V65V|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Silent_p.V65V	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	65	Helical; Signal-anchor for type II membrane protein; (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TGGTGTTCGTCGTCTCATTCG	0.597													T	304607	C	T	304607	2	4	157	1	0	0	0	0	0	0	0	1	7871	871	31	1		1	ITFG3	16	304607	Silent	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08		304607	90050146	188	83726											
TAOK2	9344	broad.mit.edu	37	chr16	29994606	29994606	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agatggccatgatgcaggagGgggagcacacagtcacctct	14	10	2	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr16:29994606G>C	uc002dva.1	+	12	1996	c.1213G>C	c.(1213-1215)GGG>CGG	p.G405R	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.G405R|TAOK2_uc002dvc.1_Missense_Mutation_p.G405R|TAOK2_uc010bzm.1_Missense_Mutation_p.G412R|TAOK2_uc002dvd.1_Missense_Mutation_p.G232R	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	405	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						GATGCAGGAGGGGGAGCACAC	0.488													C	29994606	G	C	29994606	3	2	157	1	0	0	0	0	1	0	0	0	15545	1232	43	5	1255	5	TAOK2	16	29994606	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	29689999	29994606	60360147	189	83727											
DNAJA2	10294	broad.mit.edu	37	chr16	46991100	46991100	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccaattatgttaggaacTtccggtctagatggcagaag	10	8	2	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr16:46991100T>G	uc002eeo.2	-	9	1222	c.1080A>C	c.(1078-1080)GAA>GAC	p.E360D	DNAJA2_uc002eep.2_Missense_Mutation_p.E277D	NM_005880	NP_005871	O60884	DNJA2_HUMAN	DnaJ subfamily A member 2	360					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			lung(1)	1		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TGTTAGGAACTTCCGGTCTAG	0.393													G	46991100	T	G	46991100	3	3	157	1	0	0	0	0	1	0	0	0	4612	1606	56	5	162	5	DNAJA2	16	46991100	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	16996494	46991100	43363653	190	83728											
CES1	1066	broad.mit.edu	37	chr16	55862829	55862829	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atccttctaagctgacgaacTtccccagcactttgccatgc	6	15	1	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr16:55862829T>G	uc002eim.2	-	2	215	c.107A>C	c.(106-108)AAG>ACG	p.K36T	CES1_uc002eil.2_Missense_Mutation_p.K37T|CES1_uc002ein.2_Missense_Mutation_p.K36T	NM_001025194	NP_001020365	P23141	EST1_HUMAN	carboxylesterase 1 isoform b precursor	36					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GCTGACGAACTTCCCCAGCAC	0.557													G	55862829	T	G	55862829	3	3	157	1	0	0	0	0	1	0	0	0	3269	1609	56	5	1648	5	CES1	16	55862829	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	8871729	55862829	34491924	191	83729											
DOK4	55715	broad.mit.edu	37	chr16	57507377	57507377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttgaggaggtctgtttccGagctggcctgggctgcccca	15	11	1	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr16:57507377G>A	uc010cdb.2	-	8	1191	c.893C>T	c.(892-894)TCG>TTG	p.S298L	DOK4_uc002elu.1_Missense_Mutation_p.S337L|DOK4_uc002elv.3_Missense_Mutation_p.S298L	NM_018110	NP_060580	Q8TEW6	DOK4_HUMAN	docking protein 4	298							insulin receptor binding			skin(1)	1						GTCTGTTTCCGAGCTGGCCTG	0.592													A	57507377	G	A	57507377	3	1	157	1	0	0	0	0	1	0	0	0	4699	1059	37	1	91	1	DOK4	16	57507377	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	1644548	57507377	32847376	192	83730											
DPEP3	64180	broad.mit.edu	37	chr16	68014254	68014254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agataccgccggctgagcgcGcgggaaccctcgcggcccgt	15	16	0	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr16:68014254G>A	uc002evc.3	-	1	199	c.105C>T	c.(103-105)CGC>CGT	p.R35R	DPEP3_uc010cex.2_Silent_p.R35R	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	dipeptidase 3 isoform a	10					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(3)	3		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GGCTGAGCGCGCGGGAACCCT	0.647													A	68014254	G	A	68014254	2	1	157	1	0	0	0	0	0	0	0	1	4715	1074	38	1		1	DPEP3	16	68014254	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	10506877	68014254	22340499	193	83731											
HYDIN	54768	broad.mit.edu	37	chr16	71196439	71196439	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaggcatgcatacctacaAgttttgatgtgaaatacagc	8	7	0	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr16:71196439A>G	uc002ezr.2	-	6	839	c.711T>C	c.(709-711)ACT>ACC	p.T237T	HYDIN_uc010cfz.1_Intron|HYDIN_uc002ezv.2_Silent_p.T237T|HYDIN_uc010vmc.1_Silent_p.T254T|HYDIN_uc010vmd.1_Silent_p.T264T|HYDIN_uc002ezw.3_Silent_p.T254T	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	237										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CATACCTACAAGTTTTGATGT	0.388													G	71196439	A	G	71196439	2	3	157	1	0	0	0	0	0	0	0	1	7467	59	3	3		3	HYDIN	16	71196439	Silent	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	3182185	71196439	19158314	194	83732											
ZFHX3	463	broad.mit.edu	37	chr16	72994020	72994020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccattgtccttccccgagaCgacgggcgagtcacagcctt	10	16	1	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr16:72994020C>T	uc002fck.2	-	2	698	c.25G>A	c.(25-27)GTC>ATC	p.V9I	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	9					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				TTCCCCGAGACGACGGGCGAG	0.517													T	72994020	C	T	72994020	3	4	157	1	0	0	0	0	1	0	0	0	17631	536	19	1	11122	1	ZFHX3	16	72994020	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	1797581	72994020	17360733	195	83733											
C16orf55	124045	broad.mit.edu	37	chr16	89735830	89735830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagaaccattcgggagccGgaggactggggcccctaccg	15	13	0	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr16:89735830G>A	uc002fnw.1	+	3	345	c.345G>A	c.(343-345)CCG>CCA	p.P115P	C16orf55_uc010vpk.1_Silent_p.P116P|C16orf55_uc002fny.1_RNA	NM_153025	NP_694570	Q96N06	CP055_HUMAN	hypothetical protein LOC124045	115											0		all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TTCGGGAGCCGGAGGACTGGG	0.557													A	89735830	G	A	89735830	2	1	157	1	0	0	0	0	0	0	0	1	1820	1103	39	1		1	C16orf55	16	89735830	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	16741810	89735830	618923	196	83734											
GEMIN4	50628	broad.mit.edu	37	chr17	649624	649624	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgacttccgggtgcactatGaccaggcgggccacggaggc	16	12	0	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr17:649624G>A	uc002frs.1	-	2	1778	c.1659C>T	c.(1657-1659)GTC>GTT	p.V553V		NM_015721	NP_056536	P57678	GEMI4_HUMAN	gemin 4	553					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			ovary(2)|kidney(1)|skin(1)	4		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GGTGCACTATGACCAGGCGGG	0.557													A	649624	G	A	649624	2	1	157	1	0	0	0	0	0	0	0	1	6330	1277	45	4		4	GEMIN4	17	649624	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08		649624	80545586	197	83735											
KIAA0753	9851	broad.mit.edu	37	chr17	6499612	6499612	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcactggcacaatcttccaAaaaatcatcaagctgacgaa	5	12	4	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr17:6499612A>C	uc002gde.3	-	15	2583	c.2224T>G	c.(2224-2226)TTG>GTG	p.L742V	KIAA0753_uc010vtd.1_Missense_Mutation_p.L198V|KIAA0753_uc010clo.2_Missense_Mutation_p.L443V|KIAA0753_uc010vte.1_Missense_Mutation_p.L443V	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	742						centrosome					0				COAD - Colon adenocarcinoma(228;0.157)		CAATCTTCCAAAAAATCATCA	0.363													C	6499612	A	C	6499612	3	2	157	1	0	0	0	0	1	0	0	0	8191	11	1	5	699	5	KIAA0753	17	6499612	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	5849988	6499612	74695598	198	83736											
TP53	7157	broad.mit.edu	37	chr17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacaggcacaaacacgcaCctcaaagctgttccgtccca	8	15	1	0	rs121912657		TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr17:7577124C>T	uc002gim.2	-	8	1008	c.814G>A	c.(814-816)GTG>ATG	p.V272M	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.V272M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V140M|TP53_uc010cng.1_Missense_Mutation_p.V140M|TP53_uc002gii.1_Missense_Mutation_p.V140M|TP53_uc010cnh.1_Missense_Mutation_p.V272M|TP53_uc010cni.1_Missense_Mutation_p.V272M|TP53_uc002gij.2_Missense_Mutation_p.V272M	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	272	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		V -> M (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V272M(67)|p.V272L(24)|p.V272E(8)|p.0?(7)|p.V272A(7)|p.V272G(4)|p.V272fs*73(4)|p.V272V(3)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAAACACGCACCTCAAAGCTG	0.527		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577124	C	T	7577124	3	4	157	1	0	0	0	0	1	0	0	0	16378	507	18	4	472	4	TP53	17	7577124	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	1077512	7577124	73618086	199	83737											
CNTROB	116840	broad.mit.edu	37	chr17	7851480	7851483	+	Frame_Shift_Del	DEL	CTGA	CTGA	-													ctttccttttgctaggtcctCtgactgtcccatcttgggag							TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr17:7851479_7851482TCTGA>T	uc002gjp.3	+	16	3164_3167	c.2214_2217TCTGA>T	c.(2212-2217)cctctgfs	p.P738fs	CNTROB_uc002gjq.3_Frame_Shift_Del_p.P738fs|CNTROB_uc002gjr.3_Frame_Shift_Del_p.P640fs	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	738	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				TGCTAGGTCCTCTGACTGTCCCAT	0.495													-	7851483	CTGA	-	7851480	7	5	157	1	0	1	0	1	0	0	0	0	3651	912	32	0	2277	0	CNTROB	17	7851480	Frame_Shift_Del	DEL	CTGA	TCGA-CD-A48C-01A-11D-A24D-08	274356	7851480	73343730	200	83738											
MYH8	4626	broad.mit.edu	37	chr17	10315972	10315972	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acatactcattgccaaccttGaccctagggtagcagagggc	10	12	1	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr17:10315972G>A	uc002gmm.2	-	13	1316	c.1221C>T	c.(1219-1221)GTC>GTT	p.V407V	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	407	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						TGCCAACCTTGACCCTAGGGT	0.507									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				A	10315972	G	A	10315972	2	1	157	1	0	0	0	0	0	0	0	1	10041	1277	45	4		4	MYH8	17	10315972	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	2464492	10315972	70879238	201	83739											
KRT27	342574	broad.mit.edu	37	chr17	38938425	38938425	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctccaagtcagcgttggcCtcctctagggctcgaacatt	10	13	2	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr17:38938425C>T	uc002hvg.2	-	1	362	c.321G>A	c.(319-321)GAG>GAA	p.E107E		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	107	Rod.|Coil 1A.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)				CAGCGTTGGCCTCCTCTAGGG	0.527													T	38938425	C	T	38938425	2	4	157	1	0	0	0	0	0	0	0	1	8464	680	24	4		4	KRT27	17	38938425	Silent	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	28622453	38938425	42256785	202	83740											
TBC1D16	125058	broad.mit.edu	37	chr17	77922698	77922698	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctccacattgggattgtctTccccccggaagaactggttg	10	12	2	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr17:77922698T>A	uc002jxj.2	-	8	1630	c.1514A>T	c.(1513-1515)GAA>GTA	p.E505V	TBC1D16_uc002jxh.2_Missense_Mutation_p.E143V|TBC1D16_uc002jxi.2_Missense_Mutation_p.E130V|TBC1D16_uc002jxk.1_Missense_Mutation_p.E143V	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	505	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GGGATTGTCTTCCCCCCGGAA	0.567													A	77922698	T	A	77922698	3	1	157	1	0	0	0	0	1	0	0	0	15602	1783	62	5	809	5	TBC1D16	17	77922698	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	38984273	77922698	3272512	203	83741											
EPB41L3	23136	broad.mit.edu	37	chr18	5419826	5419826	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cggagtcacagtggtgatcaAgttggtctgagagatgcctt	14	7	3	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr18:5419826A>C	uc002kmt.1	-	12	1476	c.1390T>G	c.(1390-1392)TTG>GTG	p.L464V	EPB41L3_uc010wzh.1_Missense_Mutation_p.L482V|EPB41L3_uc002kmu.1_Missense_Mutation_p.L482V|EPB41L3_uc010dkq.1_Missense_Mutation_p.L373V|EPB41L3_uc002kms.1_5'UTR|EPB41L3_uc010wze.1_5'UTR|EPB41L3_uc010wzf.1_5'UTR|EPB41L3_uc010wzg.1_5'UTR|EPB41L3_uc010dkr.2_Missense_Mutation_p.L43V	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	464	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GTGGTGATCAAGTTGGTCTGA	0.328													C	5419826	A	C	5419826	3	2	157	1	0	0	0	0	1	0	0	0	5154	69	3	5	1917	5	EPB41L3	18	5419826	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08		5419826	72657422	204	83742											
C18orf34	374864	broad.mit.edu	37	chr18	30672862	30672862	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagattttcttcaagtgaatCagctattattttctagaagg	7	6	4	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr18:30672862C>G	uc002kxn.2	-	20	2393	c.2251G>C	c.(2251-2253)GAT>CAT	p.D751H	C18orf34_uc010xbq.1_Intron|C18orf34_uc010dme.1_Intron|C18orf34_uc010xbr.1_Missense_Mutation_p.D751H|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.D713H|C18orf34_uc002kxp.2_Missense_Mutation_p.D751H	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	751										ovary(1)	1						TCAAGTGAATCAGCTATTATT	0.244													G	30672862	C	G	30672862	3	3	157	1	0	0	0	0	1	0	0	0	1902	826	29	5	364	5	C18orf34	18	30672862	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	25253036	30672862	47404386	205	83743											
SERPINB3	6317	broad.mit.edu	37	chr18	61323110	61323110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacgagaccgcggctcccGgtcatgcctgagaggtctgc	14	14	2	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr18:61323110G>A	uc002lji.2	-	8	1098	c.954C>T	c.(952-954)ACC>ACT	p.T318T	SERPINB4_uc002ljg.2_Intron|SERPINB3_uc010dqa.2_Silent_p.T266T	NM_006919	NP_008850	P29508	SPB3_HUMAN	serine (or cysteine) proteinase inhibitor, clade	318					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CGCGGCTCCCGGTCATGCCTG	0.547													A	61323110	G	A	61323110	2	1	157	1	0	0	0	0	0	0	0	1	14102	1103	39	1		1	SERPINB3	18	61323110	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	30650248	61323110	16754138	206	83744											
DSEL	92126	broad.mit.edu	37	chr18	65180418	65180418	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgtccattgggggcaaaAgtaaatgagttctgatctgg	12	6	2	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr18:65180418A>C	uc002lke.1	-	2	2682	c.1458T>G	c.(1456-1458)ACT>ACG	p.T486T		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	476						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				TGGGGGCAAAAGTAAATGAGT	0.438													C	65180418	A	C	65180418	2	2	157	1	0	0	0	0	0	0	0	1	4775	59	3	5		5	DSEL	18	65180418	Silent	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	3857308	65180418	12896830	207	83745											
TNFSF14	8740	broad.mit.edu	37	chr19	6665138	6665138	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaacagctccagctcctcGgggtagcggggtgtgcgctt	14	13	0	0	rs141976417	byFrequency	TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:6665138G>A	uc002mfk.1	-	5	904	c.522C>T	c.(520-522)CCC>CCT	p.P174P	TNFSF14_uc002mfj.1_Silent_p.P138P	NM_003807	NP_003798	O43557	TNF14_HUMAN	tumor necrosis factor ligand superfamily, member	174	Extracellular (Potential).				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			skin(1)	1						CCAGCTCCTCGGGGTAGCGGG	0.672													A	6665138	G	A	6665138	2	1	157	1	0	0	0	0	0	0	0	1	16304	1103	39	1		1	TNFSF14	19	6665138	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08		6665138	52463845	208	83746											
ARHGEF18	23370	broad.mit.edu	37	chr19	7505323	7505323	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacggtctctcagaaaggggGtccccagccaacaccgagcc	12	15	2	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:7505323G>T	uc002mgi.2	+	1	750	c.497G>T	c.(496-498)GGT>GTT	p.G166V	ARHGEF18_uc010xjm.1_Missense_Mutation_p.G8V|ARHGEF18_uc002mgh.2_Missense_Mutation_p.G8V	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	166					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				CAGAAAGGGGGTCCCCAGCCA	0.692													T	7505323	G	T	7505323	3	4	157	1	0	0	0	0	1	0	0	0	901	1261	44	5	499	5	ARHGEF18	19	7505323	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	840185	7505323	51623660	209	83747											
ATG4D	84971	broad.mit.edu	37	chr19	10657622	10657622	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgcccccacgctgggccCagggtgcccctgagctggag	16	15	0	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:10657622C>T	uc002mov.2	+	4	721	c.601C>T	c.(601-603)CAG>TAG	p.Q201*	ATG4D_uc010xlg.1_Nonsense_Mutation_p.Q224*|ATG4D_uc010xlh.1_Nonsense_Mutation_p.Q138*|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_Intron|ATG4D_uc010dxj.2_Intron	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	APG4 autophagy 4 homolog D	201					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity				0			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ACGCTGGGCCCAGGGTGCCCC	0.721													T	10657622	C	T	10657622	4	4	157	1	0	0	0	0	0	1	0	0	1099	595	21	4	615	4	ATG4D	19	10657622	Nonsense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	3152299	10657622	48471361	210	83748											
QTRT1	81890	broad.mit.edu	37	chr19	10812361	10812361	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atctgcctgggcaatacctaCcatctgggtctaaggccggt	11	12	3	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:10812361C>G	uc002mpr.2	+	1	250	c.225C>G	c.(223-225)TAC>TAG	p.Y75*		NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	75					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			skin(1)	1			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			GCAATACCTACCATCTGGGTC	0.682													G	10812361	C	G	10812361	4	3	157	1	0	0	0	0	0	1	0	0	12885	518	18	5	227	5	QTRT1	19	10812361	Nonsense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	154739	10812361	48316622	211	83749											
NWD1	284434	broad.mit.edu	37	chr19	16918918	16918918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctctgggacctgcaggcaCgcaagtggaaattcgagatg	14	9	1	1	rs147984852	byFrequency	TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:16918918C>T	uc002neu.3	+	18	4680	c.4258C>T	c.(4258-4260)CGC>TGC	p.R1420C	NWD1_uc002net.3_Missense_Mutation_p.R1285C|NWD1_uc002nev.3_Missense_Mutation_p.R1214C			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	1420	WD 12.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7						CCTGCAGGCACGCAAGTGGAA	0.577													T	16918918	C	T	16918918	3	4	157	1	0	0	0	0	1	0	0	0	10781	536	19	1	3907	1	NWD1	19	16918918	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	6106557	16918918	42210065	212	83750											
PIK3R2	5296	broad.mit.edu	37	chr19	18280081	18280081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgcgcgccccgggccccGgcccgccgcctgccgcccgc	14	24	0	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:18280081G>A	uc002nia.1	+	16	2676	c.2164G>A	c.(2164-2166)GGC>AGC	p.G722S	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	722					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						cccgggccccggcccgccgcc	0.592													A	18280081	G	A	18280081	3	1	157	1	0	0	0	0	1	0	0	0	11919	1116	39	1	2222	1	PIK3R2	19	18280081	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	1361163	18280081	40848902	213	83751											
ZNF536	9745	broad.mit.edu	37	chr19	30935611	30935611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccagatctgcggccggcGcttcaaggagccctggttcc	13	15	2	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:30935611G>A	uc002nsu.1	+	2	1280	c.1142G>A	c.(1141-1143)CGC>CAC	p.R381H	ZNF536_uc010edd.1_Missense_Mutation_p.R381H	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	381	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					TGCGGCCGGCGCTTCAAGGAG	0.602													A	30935611	G	A	30935611	3	1	157	1	0	0	0	0	1	0	0	0	17971	1087	38	1	1144	1	ZNF536	19	30935611	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	12655530	30935611	28193372	214	83752											
LGI4	163175	broad.mit.edu	37	chr19	35616357	35616357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctggaagacgtgggcacCgcgcgagggaagttgctgca	18	9	0	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:35616357C>T	uc002nxx.2	-	9	1948	c.1354G>A	c.(1354-1356)GGT>AGT	p.G452S	LGI4_uc002nxy.1_Missense_Mutation_p.G280S|LGI4_uc002nxz.1_3'UTR	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	452	EAR 4.					extracellular region				pancreas(1)	1	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			ACGTGGGCACCGCGCGAGGGA	0.662													T	35616357	C	T	35616357	3	4	157	1	0	0	0	0	1	0	0	0	8754	652	23	1	263	1	LGI4	19	35616357	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	4680746	35616357	23512626	215	83753											
CEACAM1	634	broad.mit.edu	37	chr19	43026105	43026105	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggtgactgggtcactgCggttcgcactcactgggttc	13	11	3	1	rs139266169	byFrequency	TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:43026105C>A	uc002otv.2	-	3	787	c.674G>T	c.(673-675)CGC>CTC	p.R225L	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_5'Flank|CEACAM1_uc002otw.2_Missense_Mutation_p.R225L|CEACAM1_uc010eij.2_Missense_Mutation_p.R225L|CEACAM1_uc002otx.2_Missense_Mutation_p.R225L|CEACAM1_uc002oty.2_Missense_Mutation_p.R225L|CEACAM1_uc002otz.2_Missense_Mutation_p.R225L|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Missense_Mutation_p.R225L|CEACAM1_uc002oub.2_Missense_Mutation_p.R225L|CEACAM1_uc002ouc.2_Missense_Mutation_p.R225L	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	225	Ig-like C2-type 1.|Extracellular (Potential).				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	TGGGTCACTGCGGTTCGCACT	0.552													A	43026105	C	A	43026105	3	1	157	1	0	0	0	0	1	0	0	0	3187	768	27	5	1031	5	CEACAM1	19	43026105	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	7409748	43026105	16102878	216	83754											
LIG1	3978	broad.mit.edu	37	chr19	48660279	48660279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgttctcacctgtgcgaCgcttcggaatccctgatggg	13	11	1	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:48660279C>T	uc002pia.1	-	5	482	c.362G>A	c.(361-363)CGT>CAT	p.R121H	LIG1_uc010xze.1_5'Flank|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.R121H|LIG1_uc010xzg.1_Missense_Mutation_p.R91H|LIG1_uc010xzh.1_RNA	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	121					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	ACCTGTGCGACGCTTCGGAAT	0.463								NER					T	48660279	C	T	48660279	3	4	157	1	0	0	0	0	1	0	0	0	8781	536	19	1	2493	1	LIG1	19	48660279	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	5634174	48660279	10468704	217	83755											
PLEKHA4	57664	broad.mit.edu	37	chr19	49364712	49364712	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcccatctggtctaatattGtagctggggagcaggacgct	14	9	2	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:49364712G>T	uc002pkx.2	-	5	863	c.312C>A	c.(310-312)TAC>TAA	p.Y104*	PLEKHA4_uc002pkw.1_5'Flank|PLEKHA4_uc010eml.2_Nonsense_Mutation_p.Y104*	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing family A	104	PH.					cytoplasm|membrane	1-phosphatidylinositol binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GTCTAATATTGTAGCTGGGGA	0.612													T	49364712	G	T	49364712	4	4	157	1	0	0	0	0	0	1	0	0	12058	1372	48	5	2091	5	PLEKHA4	19	49364712	Nonsense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	704433	49364712	9764271	218	83756											
ZNF473	25888	broad.mit.edu	37	chr19	50549550	50549550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaatccactctagagtgaGgctgtataaatggggtgagc	13	6	1	4			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:50549550G>A	uc002prn.2	+	5	2087	c.1850G>A	c.(1849-1851)AGG>AAG	p.R617K	ZNF473_uc002prm.2_Missense_Mutation_p.R617K|ZNF473_uc010ybo.1_Missense_Mutation_p.R605K	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	617					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCTAGAGTGAGGCTGTATAAA	0.483													A	50549550	G	A	50549550	3	1	157	1	0	0	0	0	1	0	0	0	17928	1000	35	4	1864	4	ZNF473	19	50549550	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	1184838	50549550	8579433	219	83757											
RPL28	6158	broad.mit.edu	37	chr19	55897997	55897997	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aacggactgattcaccgcaaGactgtgggcgtggagccggc	15	11	1	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:55897997G>C	uc002qkv.2	+	3	183	c.141G>C	c.(139-141)AAG>AAC	p.K47N	uc002qku.2_5'Flank|RPL28_uc010yfz.1_Missense_Mutation_p.K47N|RPL28_uc010yfy.1_Missense_Mutation_p.K47N|RPL28_uc010yga.1_Missense_Mutation_p.K47N|RPL28_uc010ygb.1_Missense_Mutation_p.K47N|RPL28_uc002qkw.1_Missense_Mutation_p.K47N	NM_000991	NP_000982	P46779	RL28_HUMAN	ribosomal protein L28 isoform 2	47					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		TTCACCGCAAGACTGTGGGCG	0.597													C	55897997	G	C	55897997	3	2	157	1	0	0	0	0	1	0	0	0	13577	933	33	5	147	5	RPL28	19	55897997	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	5348447	55897997	3230986	220	83758											
XKR7	343702	broad.mit.edu	37	chr20	30584798	30584798	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtggcctccagctttgcGctgggcatattcttcatgtg	12	10	2	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr20:30584798G>A	uc002wxe.2	+	3	1452	c.1278G>A	c.(1276-1278)GCG>GCA	p.A426A		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	426	Helical; (Potential).					integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCAGCTTTGCGCTGGGCATAT	0.582													A	30584798	G	A	30584798	2	1	157	1	0	0	0	0	0	0	0	1	17433	1074	38	1		1	XKR7	20	30584798	Silent	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08		30584798	32440722	221	83759											
MYH7B	57644	broad.mit.edu	37	chr20	33584184	33584184	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagagatggctgcgctggaCgagtcagtggcccggctgac	17	10	1	2	rs147249013	by1000genomes	TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr20:33584184C>A	uc002xbi.1	+	27	3197	c.3105C>A	c.(3103-3105)GAC>GAA	p.D1035E		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	993	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTGCGCTGGACGAGTCAGTGG	0.672													A	33584184	C	A	33584184	3	1	157	1	0	0	0	0	1	0	0	0	10040	535	19	5	3211	5	MYH7B	20	33584184	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	2999386	33584184	29441336	222	83760											
SAMHD1	25939	broad.mit.edu	37	chr20	35521394	35521394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcttctcggaggcgagTtggattttggactgaagtac	15	6	1	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr20:35521394T>C	uc002xgh.1	-	16	1952	c.1822A>G	c.(1822-1824)ACT>GCT	p.T608A	C20orf118_uc002xgg.1_3'UTR|SAMHD1_uc010gft.1_RNA	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	608					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity				0		Myeloproliferative disorder(115;0.00878)				CGGAGGCGAGTTGGATTTTGG	0.433													C	35521394	T	C	35521394	3	2	157	1	0	0	0	0	1	0	0	0	13828	1725	60	3	62	3	SAMHD1	20	35521394	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	1937210	35521394	27504126	223	83761											
RBL1	5933	broad.mit.edu	37	chr20	35663900	35663900	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggacagaaattggagacaAtggttgcatatctaaaaaaa	9	4	1	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr20:35663900A>G	uc002xgi.2	-	15	1994	c.1915T>C	c.(1915-1917)TTG>CTG	p.L639L	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Silent_p.L639L	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	639	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				ATTGGAGACAATGGTTGCATA	0.303													G	35663900	A	G	35663900	2	3	157	1	0	0	0	0	0	0	0	1	13109	98	4	3		3	RBL1	20	35663900	Silent	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	142506	35663900	27361620	224	83762											
AURKA	6790	broad.mit.edu	37	chr20	54948571	54948571	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctctatgaataactctcttCgaatgacagtaagacagggc	8	9	2	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr20:54948571C>T	uc002xxd.1	-	9	1313	c.747G>A	c.(745-747)TCG>TCA	p.S249S	AURKA_uc002xxe.1_Silent_p.S249S|AURKA_uc002xxf.1_Silent_p.S249S|AURKA_uc002xxg.1_Silent_p.S249S|AURKA_uc002xxh.1_Silent_p.S249S|AURKA_uc002xxi.1_Silent_p.S249S|AURKA_uc002xxj.1_Silent_p.S249S|AURKA_uc002xxk.1_Silent_p.S249S|AURKA_uc010zzd.1_RNA	NM_198433	NP_940835	O14965	AURKA_HUMAN	serine/threonine protein kinase 6	249	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(1)|large_intestine(1)|skin(1)	8			Colorectal(105;0.202)			TAACTCTCTTCGAATGACAGT	0.338													T	54948571	C	T	54948571	2	4	157	1	0	0	0	0	0	0	0	1	1221	871	31	1		1	AURKA	20	54948571	Silent	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	19284671	54948571	8076949	225	83763											
TFAP2C	7022	broad.mit.edu	37	chr20	55212788	55212788	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgactgtcttcacaggcaaCtgtgtaaagaattcacagaa	8	9	3	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr20:55212788C>A	uc002xya.2	+	7	1315	c.1072C>A	c.(1072-1074)CTG>ATG	p.L358M	TFAP2C_uc010zzi.1_Missense_Mutation_p.L189M	NM_003222	NP_003213	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma	358	H-S-H (helix-span-helix), dimerization.				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Colorectal(105;0.229)			TCACAGGCAACTGTGTAAAGA	0.537													A	55212788	C	A	55212788	3	1	157	1	0	0	0	0	1	0	0	0	15786	564	20	5	1098	5	TFAP2C	20	55212788	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	264217	55212788	7812732	226	83764											
SEPT3	55964	broad.mit.edu	37	chr22	42390313	42390313	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaaacctcaaccactgTgagtttgccctgcttcgaga	10	11	1	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr22:42390313T>A	uc003bbr.3	+	9	1023	c.885T>A	c.(883-885)TGT>TGA	p.C295*	WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Nonsense_Mutation_p.C295*|SEPT3_uc010gyr.2_Nonsense_Mutation_p.C231*|SEPT3_uc011apj.1_Nonsense_Mutation_p.C231*|SEPT3_uc010gys.2_Nonsense_Mutation_p.C75*	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN	septin 3 isoform A	295					cell cycle|cytokinesis	cell junction|septin complex	GTP binding				0						TCAACCACTGTGAGTTTGCCC	0.428													A	42390313	T	A	42390313	4	1	157	1	0	0	0	0	0	1	0	0	14065	1702	59	5	919	5	SEPT3	22	42390313	Nonsense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08		42390313	8914253	227	83765											
SHROOM2	357	broad.mit.edu	37	chrX	9863306	9863306	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaggggctgccagcttccAgaacgacagccctcctcagg	12	16	1	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:9863306A>G	uc004csu.1	+	4	1448	c.1358A>G	c.(1357-1359)CAG>CGG	p.Q453R		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	453					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				GCCAGCTTCCAGAACGACAGC	0.667													G	9863306	A	G	9863306	3	3	157	1	0	0	0	0	1	0	0	0	14294	188	7	3	1372	3	SHROOM2	23	9863306	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08		9863306	145407254	228	83766											
TLR8	51311	broad.mit.edu	37	chrX	12937481	12937481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaccagaacggaaatcccGgtatacaatcaaatggcttg	9	10	1	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:12937481G>A	uc004cve.2	+	2	390	c.322G>A	c.(322-324)GGT>AGT	p.G108S	TLR8_uc004cvd.2_Missense_Mutation_p.G126S	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	108	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						CGGAAATCCCGGTATACAATC	0.413													A	12937481	G	A	12937481	3	1	157	1	0	0	0	0	1	0	0	0	15954	1116	39	1	328	1	TLR8	23	12937481	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	3074175	12937481	142333079	229	83767											
XK	7504	broad.mit.edu	37	chrX	37587421	37587421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatctatatgtatgtgtgCgcacctctgttggtcctgca	10	10	2	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:37587421C>T	uc004ddq.2	+	3	1123	c.1041C>T	c.(1039-1041)TGC>TGT	p.C347C		NM_021083	NP_066569	P51811	XK_HUMAN	membrane transport protein XK	347	Extracellular (Potential).			C->S: Loss of Kell-XK complex.	amino acid transport	integral to membrane	protein binding|transporter activity				0		all_lung(315;0.175)				TGTATGTGTGCGCACCTCTGT	0.448													T	37587421	C	T	37587421	2	4	157	1	0	0	0	0	0	0	0	1	17428	776	27	1		1	XK	23	37587421	Silent	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	24649940	37587421	117683139	230	83768											
TRO	7216	broad.mit.edu	37	chrX	54949399	54949399	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccaacaagatgaagagagTtactgccaaggcagcccaag	11	10	0	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:54949399T>C	uc004dtq.2	+	3	541	c.434T>C	c.(433-435)GTT>GCT	p.V145A	TRO_uc011moj.1_Missense_Mutation_p.V88A|TRO_uc004dts.2_Missense_Mutation_p.V145A|TRO_uc004dtr.2_Missense_Mutation_p.V145A|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	145					embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						ATGAAGAGAGTTACTGCCAAG	0.512													C	54949399	T	C	54949399	3	2	157	1	0	0	0	0	1	0	0	0	16571	1725	60	3	440	3	TRO	23	54949399	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	17361978	54949399	100321161	231	83769											
FAAH2	158584	broad.mit.edu	37	chrX	57473429	57473429	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agtcctctgtgggagttgatCaaatggtgcctgggtctgtc	14	8	3	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:57473429C>G	uc004dvc.2	+	9	1334	c.1185C>G	c.(1183-1185)ATC>ATG	p.I395M		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	395						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			ovary(3)	3						GGGAGTTGATCAAATGGTGCC	0.388										HNSCC(52;0.14)			G	57473429	C	G	57473429	3	3	157	1	0	0	0	0	1	0	0	0	5354	816	29	5	1219	5	FAAH2	23	57473429	Missense_Mutation	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	2524030	57473429	97797131	232	83770											
ZXDA	7789	broad.mit.edu	37	chrX	57936570	57936570	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctccacgtcgccacccacCgggtcaagcagcaccaggaa	10	17	2	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:57936570C>T	uc004dve.2	-	1	498	c.285G>A	c.(283-285)CCG>CCA	p.P95P		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	95					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						CGCCACCCACCGGGTCAAGCA	0.731													T	57936570	C	T	57936570	2	4	157	1	0	0	0	0	0	0	0	1	18247	639	23	1		1	ZXDA	23	57936570	Silent	SNP	C	TCGA-CD-A48C-01A-11D-A24D-08	463141	57936570	97333990	233	83771											
VSIG4	11326	broad.mit.edu	37	chrX	65252408	65252408	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcggctatcaccgcaggcTtgaagagtaaggtacttagg	13	8	1	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:65252408T>G	uc004dwh.2	-	3	723	c.596A>C	c.(595-597)AAG>ACG	p.K199T	VSIG4_uc004dwi.2_Intron|VSIG4_uc010nkq.1_Missense_Mutation_p.K199T|VSIG4_uc004dwj.2_Missense_Mutation_p.K199T|VSIG4_uc011moy.1_Intron|VSIG4_uc004dwk.2_Missense_Mutation_p.K199T|VSIG4_uc004dwl.2_Missense_Mutation_p.K95T	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	199	Ig-like 2.|Extracellular (Potential).				complement activation, alternative pathway	integral to membrane	protein binding				0						CACCGCAGGCTTGAAGAGTAA	0.498													G	65252408	T	G	65252408	3	3	157	1	0	0	0	0	1	0	0	0	17222	1609	56	5	631	5	VSIG4	23	65252408	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	7315838	65252408	90018152	234	83772											
KIAA2022	340533	broad.mit.edu	37	chrX	73960013	73960013	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctttcccttacatttcTcatctctcagggccttggag	8	12	3	0			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:73960013T>C	uc004eby.2	-	3	4996	c.4379A>G	c.(4378-4380)GAG>GGG	p.E1460G		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1460					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						CTTACATTTCTCATCTCTCAG	0.433													C	73960013	T	C	73960013	3	2	157	1	0	0	0	0	1	0	0	0	8269	1551	54	3	179	3	KIAA2022	23	73960013	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	8707605	73960013	81310547	235	83773											
BHLHB9	80823	broad.mit.edu	37	chrX	102004035	102004035	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgttgttaggcctgtaGccaagaccagggccaaagca	13	10	0	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:102004035G>C	uc010nog.2	+	4	683	c.112G>C	c.(112-114)GCC>CCC	p.A38P	BHLHB9_uc011mrq.1_Missense_Mutation_p.A38P|BHLHB9_uc011mrr.1_Missense_Mutation_p.A38P|BHLHB9_uc011mrs.1_Missense_Mutation_p.A38P|BHLHB9_uc011mrt.1_Missense_Mutation_p.A38P|BHLHB9_uc004ejo.2_Missense_Mutation_p.A38P|BHLHB9_uc011mru.1_Missense_Mutation_p.A38P|BHLHB9_uc011mrv.1_Missense_Mutation_p.A38P	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	38						cytoplasm|nucleus	binding			ovary(2)	2						TAGGCCTGTAGCCAAGACCAG	0.478													C	102004035	G	C	102004035	3	2	157	1	0	0	0	0	1	0	0	0	1420	971	34	5	114	5	BHLHB9	23	102004035	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	28044022	102004035	53266525	236	83774											
RIPPLY1	92129	broad.mit.edu	37	chrX	106146380	106146380	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctttcactcccatttacTtcttgtccagaggagagaag	7	11	2	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:106146380T>G	uc004emr.1	-	1	182	c.138A>C	c.(136-138)GAA>GAC	p.E46D	MORC4_uc004emp.3_Intron|CLDN2_uc004emq.1_Intron|RIPPLY1_uc004ems.1_Missense_Mutation_p.E46D	NM_138382	NP_612391	Q0D2K3	RIPP1_HUMAN	ripply1 homolog	46					negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus					0						TCCCATTTACTTCTTGTCCAG	0.383													G	106146380	T	G	106146380	3	3	157	1	0	0	0	0	1	0	0	0	13384	1606	56	5	333	5	RIPPLY1	23	106146380	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	4142345	106146380	49124180	237	83775											
KLHL13	90293	broad.mit.edu	37	chrX	117079445	117079445	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggtaaagatgcgtgtaggTcctgccttggaagactgcaa	13	8	0	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:117079445T>G	uc004eql.2	-	2	254	c.192A>C	c.(190-192)GGA>GGC	p.G64G	KLHL13_uc004eqk.2_Silent_p.G13G|KLHL13_uc011mtn.1_5'UTR|KLHL13_uc011mto.1_Silent_p.G58G|KLHL13_uc011mtp.1_Silent_p.G66G|KLHL13_uc004eqm.2_Silent_p.G13G|KLHL13_uc011mtq.1_Silent_p.G48G	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	64					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)|skin(1)	2						TGCGTGTAGGTCCTGCCTTGG	0.463													G	117079445	T	G	117079445	2	3	157	1	0	0	0	0	0	0	0	1	8369	1654	58	5		5	KLHL13	23	117079445	Silent	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	10933065	117079445	38191115	238	83776											
WDR44	54521	broad.mit.edu	37	chrX	117577561	117577561	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttagtggttcagaagataAgtatgtttatatctggagta	11	3	2	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:117577561A>C	uc004eqn.2	+	18	2848	c.2423A>C	c.(2422-2424)AAG>ACG	p.K808T	WDR44_uc004eqo.2_Missense_Mutation_p.K800T|WDR44_uc011mtr.1_Missense_Mutation_p.K719T|WDR44_uc010nqi.2_Missense_Mutation_p.K518T	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	808	WD 6.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						TCAGAAGATAAGTATGTTTAT	0.358													C	117577561	A	C	117577561	3	2	157	1	0	0	0	0	1	0	0	0	17293	72	3	5	2493	5	WDR44	23	117577561	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	498116	117577561	37692999	239	83777											
GLUD2	2747	broad.mit.edu	37	chrX	120183118	120183118	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aattatgcacacagccatgaAgtataacctgggattggacc	9	9	0	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:120183118A>C	uc004eto.2	+	1	1657	c.1580A>C	c.(1579-1581)AAG>ACG	p.K527T		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	527					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)	ACAGCCATGAAGTATAACCTG	0.458													C	120183118	A	C	120183118	3	2	157	1	0	0	0	0	1	0	0	0	6477	72	3	5	1582	5	GLUD2	23	120183118	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	2605557	120183118	35087442	240	83778											
ODZ1	10178	broad.mit.edu	37	chrX	123554379	123554379	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcactgaattgccattgctGctggtaatcgcgcccaagtc	10	12	0	1			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:123554379G>T	uc004euj.2	-	24	4807	c.4743C>A	c.(4741-4743)AGC>AGA	p.S1581R	ODZ1_uc011muj.1_Missense_Mutation_p.S1587R|ODZ1_uc010nqy.2_Missense_Mutation_p.S1588R	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1581	YD 2.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TGCCATTGCTGCTGGTAATCG	0.493													T	123554379	G	T	123554379	3	4	157	1	0	0	0	0	1	0	0	0	10834	1310	46	5	3466	5	ODZ1	23	123554379	Missense_Mutation	SNP	G	TCGA-CD-A48C-01A-11D-A24D-08	3371261	123554379	31716181	241	83779											
SOX3	6658	broad.mit.edu	37	chrX	139586729	139586729	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgcttgctgatctcagaaTtgtgcatcttggggttctcc	11	10	3	2			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:139586729T>G	uc004fbd.1	-	1	497	c.497A>C	c.(496-498)AAT>ACT	p.N166T		NM_005634	NP_005625	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	166	HMG box.				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			pancreas(1)	1	Acute lymphoblastic leukemia(192;7.65e-05)					GATCTCAGAATTGTGCATCTT	0.612													G	139586729	T	G	139586729	3	3	157	1	0	0	0	0	1	0	0	0	14951	1493	52	5	847	5	SOX3	23	139586729	Missense_Mutation	SNP	T	TCGA-CD-A48C-01A-11D-A24D-08	16032350	139586729	15683831	242	83780											
AFF2	2334	broad.mit.edu	37	chrX	148044287	148044287	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatagaagaaaggaagaaaaActatttcctcctccactttc	5	9	0	3			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:148044287A>C	uc004fcp.2	+	13	3212	c.2733A>C	c.(2731-2733)AAA>AAC	p.K911N	AFF2_uc004fcq.2_Missense_Mutation_p.K901N|AFF2_uc004fcr.2_Missense_Mutation_p.K872N|AFF2_uc011mxb.1_Missense_Mutation_p.K876N|AFF2_uc004fcs.2_Missense_Mutation_p.K878N|AFF2_uc011mxc.1_Missense_Mutation_p.K552N	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	911					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAAGAAAAACTATTTCCTC	0.423													C	148044287	A	C	148044287	3	2	157	1	0	0	0	0	1	0	0	0	357	40	2	5	2838	5	AFF2	23	148044287	Missense_Mutation	SNP	A	TCGA-CD-A48C-01A-11D-A24D-08	8457558	148044287	7226273	243	83781											
NOC2L	26155	broad.mit.edu	37	chr1	891591	891591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacagctttggagtgaggCgttgctgaaggagcaagagt	17	5	0	3	rs138672231	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:891591C>T	uc001abz.3	-	5	550	c.491G>A	c.(490-492)CGC>CAC	p.R164H	NOC2L_uc001aby.3_5'UTR|NOC2L_uc009vjq.2_Missense_Mutation_p.R164H	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	164						nucleolus	protein binding			ovary(1)|skin(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TGGAGTGAGGCGTTGCTGAAG	0.597													T	891591	C	T	891591	3	4	158	1	0	0	0	0	1	0	0	0	10513	768	27	1	1818	1	NOC2L	1	891591	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08		891591	248359030	1	83782											
AGRN	375790	broad.mit.edu	37	chr1	977462	977462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcccaggacgggcgcaCgtatgacagtgattgctggc	16	10	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:977462C>T	uc001ack.1	+	7	1354	c.1304C>T	c.(1303-1305)ACG>ATG	p.T435M		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	435	Kazal-like 4.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GACGGGCGCACGTATGACAGT	0.711													T	977462	C	T	977462	3	4	158	1	0	0	0	0	1	0	0	0	397	536	19	1	1330	1	AGRN	1	977462	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	85871	977462	248273159	2	83783											
AGRN	375790	broad.mit.edu	37	chr1	979585	979585	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catctgggacgaggactcggAggacgggccgtgtgtctgtg	18	9	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:979585A>C	uc001ack.1	+	11	2146	c.2096A>C	c.(2095-2097)GAG>GCG	p.E699A		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	699	Kazal-like 8.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GAGGACTCGGAGGACGGGCCG	0.706													C	979585	A	C	979585	3	2	158	1	0	0	0	0	1	0	0	0	397	304	11	5	2138	5	AGRN	1	979585	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	2123	979585	248271036	3	83784											
TNFRSF4	7293	broad.mit.edu	37	chr1	1147460	1147460	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggggtccctgtcctcacAgattgcgtccgagctattgc	13	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:1147460A>G	uc001ade.2	-	5	501	c.496T>C	c.(496-498)TGT>CGT	p.C166R	TNFRSF4_uc001adf.2_Missense_Mutation_p.C170R	NM_003327	NP_003318	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily,	166	TNFR-Cys 4.|Extracellular (Potential).				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGTCCTCACAGATTGCGTCC	0.667													G	1147460	A	G	1147460	3	3	158	1	0	0	0	0	1	0	0	0	16294	188	7	3	349	3	TNFRSF4	1	1147460	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	167875	1147460	248103161	4	83785											
ACAP3	116983	broad.mit.edu	37	chr1	1236072	1236072	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccttgaacttccgcacatcCctggaggccaagtgccaggt	10	14	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:1236072C>A	uc001aeb.2	-	6	413	c.339G>T	c.(337-339)GAG>GAT	p.E113D	ACAP3_uc001ady.2_5'Flank|ACAP3_uc001aea.2_Missense_Mutation_p.E71D|ACAP3_uc001aec.1_Missense_Mutation_p.E71D	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH	113					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding				0						TCCGCACATCCCTGGAGGCCA	0.542													A	1236072	C	A	1236072	3	1	158	1	0	0	0	0	1	0	0	0	120	637	22	5	2241	5	ACAP3	1	1236072	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	88612	1236072	248014549	5	83786											
NADK	65220	broad.mit.edu	37	chr1	1696665	1696665	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaccatccctcccagttgtAcctgaactccttggtgctcc	7	16	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:1696665A>G	uc009vkw.2	-	2	300	c.179_splice	c.e2+1	p.R60_splice	NADK_uc001aic.2_Splice_Site_p.R60_splice|NADK_uc001aid.3_Splice_Site_p.R60_splice|NADK_uc001aie.2_Splice_Site_p.R60_splice|NADK_uc009vkx.1_Intron	NM_023018	NP_075394	O95544	NADK_HUMAN	NAD kinase						ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TCCCAGTTGTACCTGAACTCC	0.522													G	1696665	A	G	1696665	5	3	158	1	0	0	0	0	0	0	1	0	10137	405	14	3	1203	3	NADK	1	1696665	Splice_Site	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	460593	1696665	247553956	6	83787											
PLCH2	9651	broad.mit.edu	37	chr1	2420769	2420769	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagtgagcagtgaagatgcCaccacactcccctctccaca	7	16	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:2420769C>A	uc001aji.1	+	9	1633	c.1359C>A	c.(1357-1359)GCC>GCA	p.A453A	PLCH2_uc010nyz.1_Silent_p.A241A|PLCH2_uc009vle.1_Silent_p.A241A|PLCH2_uc001ajj.1_Silent_p.A241A|PLCH2_uc001ajk.1_Silent_p.A241A	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	453	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GTGAAGATGCCACCACACTCC	0.562													A	2420769	C	A	2420769	2	1	158	1	0	0	0	0	0	0	0	1	12038	581	21	5		5	PLCH2	1	2420769	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	724104	2420769	246829852	7	83788											
ACTRT2	140625	broad.mit.edu	37	chr1	2938735	2938735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtggacagcggggatgCggtcacctgcactgtcccca	16	12	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:2938735C>T	uc001ajz.2	+	1	690	c.485C>T	c.(484-486)GCG>GTG	p.A162V		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	162						cytoplasm|cytoskeleton					0	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		AGCGGGGATGCGGTCACCTGC	0.647													T	2938735	C	T	2938735	3	4	158	1	0	0	0	0	1	0	0	0	219	768	27	1	487	1	ACTRT2	1	2938735	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	517966	2938735	246311886	8	83789											
PRDM16	63976	broad.mit.edu	37	chr1	3102700	3102700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctttaggtgacggtgacGttgtaaataatatgtatgag	11	5	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:3102700G>A	uc001akf.2	+	2	129	c.49G>A	c.(49-51)GTT>ATT	p.V17I	PRDM16_uc001akc.2_Missense_Mutation_p.V17I|PRDM16_uc001akd.2_Missense_Mutation_p.V17I|PRDM16_uc001ake.2_Missense_Mutation_p.V17I|PRDM16_uc009vlh.2_5'UTR	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	17					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGACGGTGACGTTGTAAATAA	0.627			T	EVI1	MDS|AML								A	3102700	G	A	3102700	3	1	158	1	0	0	0	0	1	0	0	0	12457	1145	40	1	55	1	PRDM16	1	3102700	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	163965	3102700	246147921	9	83790											
ARHGEF16	27237	broad.mit.edu	37	chr1	3395177	3395177	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctctcctcggactccgcGtaagtgggctcccgggaggg	15	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:3395177G>A	uc001akg.3	+	12	2062	c.1814_splice	c.e12+1	p.A605_splice	ARHGEF16_uc001aki.2_Splice_Site_p.A317_splice|ARHGEF16_uc001akj.2_Splice_Site_p.A317_splice|ARHGEF16_uc010nzh.1_Splice_Site_p.A309_splice	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16						activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CGGACTCCGCGTAAGTGGGCT	0.677													A	3395177	G	A	3395177	5	1	158	1	0	0	0	0	0	0	1	0	899	1159	40	1	1857	1	ARHGEF16	1	3395177	Splice_Site	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	292477	3395177	245855444	10	83791											
MEGF6	1953	broad.mit.edu	37	chr1	3412517	3412517	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccggtcacagggtcgcAggccgccccctgcccacacc	13	19	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:3412517A>G	uc001akl.2	-	30	4035	c.3808T>C	c.(3808-3810)TGC>CGC	p.C1270R	MEGF6_uc001akk.2_Missense_Mutation_p.C1035R	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	1270	EGF-like 23.					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		ACAGGGTCGCAGGCCGCCCCC	0.706													G	3412517	A	G	3412517	3	3	158	1	0	0	0	0	1	0	0	0	9462	188	7	3	849	3	MEGF6	1	3412517	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	17340	3412517	245838104	11	83792											
AJAP1	55966	broad.mit.edu	37	chr1	4832521	4832521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcagggcatctgtgcccGtgtacaccgatgagacgctg	14	12	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:4832521G>A	uc001alm.1	+	4	1480	c.1099G>A	c.(1099-1101)GTG>ATG	p.V367M	AJAP1_uc001aln.2_Missense_Mutation_p.V367M	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	367	Targeting signals.|Cytoplasmic (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ATCTGTGCCCGTGTACACCGA	0.587													A	4832521	G	A	4832521	3	1	158	1	0	0	0	0	1	0	0	0	438	1145	40	1	1113	1	AJAP1	1	4832521	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1420004	4832521	244418100	12	83793											
NPHP4	261734	broad.mit.edu	37	chr1	6029244	6029244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctggaggctcccatcccGtttcttgccctcagcgacca	9	16	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:6029244G>A	uc001alq.1	-	4	621	c.355C>T	c.(355-357)CGG>TGG	p.R119W	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	119					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCCATCCCGTTTCTTGCCC	0.527													A	6029244	G	A	6029244	3	1	158	1	0	0	0	0	1	0	0	0	10581	1144	40	1	4033	1	NPHP4	1	6029244	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1196723	6029244	243221377	13	83794											
KCNAB2	8514	broad.mit.edu	37	chr1	6100681	6100681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggctctcgctgcggcagaCgggctcccccgggatgatct	14	15	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:6100681C>T	uc009vlv.1	+	2	188	c.53C>T	c.(52-54)ACG>ATG	p.T18M	KCNAB2_uc001alv.1_Missense_Mutation_p.T18M|KCNAB2_uc001alw.1_Missense_Mutation_p.T18M|KCNAB2_uc001alx.1_Missense_Mutation_p.T18M|KCNAB2_uc001alu.2_Missense_Mutation_p.T18M	NM_003636	NP_003627	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related	18						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity				0	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCGGCAGACGGGCTCCCCC	0.632													T	6100681	C	T	6100681	3	4	158	1	0	0	0	0	1	0	0	0	8010	536	19	1	55	1	KCNAB2	1	6100681	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	71437	6100681	243149940	14	83795											
CHD5	26038	broad.mit.edu	37	chr1	6170003	6170003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcgtcatgttcaggtaCgcggccctccggagctgctc	12	15	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:6170003C>T	uc001amb.1	-	38	5530	c.5430G>A	c.(5428-5430)GCG>GCA	p.A1810A	CHD5_uc001alz.1_Silent_p.A667A|CHD5_uc001ama.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1810					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGTTCAGGTACGCGGCCCTCC	0.701													T	6170003	C	T	6170003	2	4	158	1	0	0	0	0	0	0	0	1	3328	523	19	1		1	CHD5	1	6170003	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	69322	6170003	243080618	15	83796											
ICMT	23463	broad.mit.edu	37	chr1	6285304	6285304	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatagctgacgccgcagaTggggttacacagcatcacct	12	12	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:6285304T>C	uc001amk.2	-	5	764	c.691A>G	c.(691-693)ATC>GTC	p.I231V	ICMT_uc001aml.2_Missense_Mutation_p.I135V	NM_012405	NP_036537	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	231	Helical; (Potential).				protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity				0	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		ACGCCGCAGATGGGGTTACAC	0.522													C	6285304	T	C	6285304	3	2	158	1	0	0	0	0	1	0	0	0	7485	1464	51	3	167	3	ICMT	1	6285304	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	115301	6285304	242965317	16	83797											
PLEKHG5	57449	broad.mit.edu	37	chr1	6529449	6529449	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacaaggcctggccactggcCtggaacgtgtaggcccctac	12	15	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:6529449C>A	uc001ano.1	-	19	2264	c.2163G>T	c.(2161-2163)CAG>CAT	p.Q721H	PLEKHG5_uc001ann.1_Missense_Mutation_p.Q702H|PLEKHG5_uc001anq.1_Missense_Mutation_p.Q742H|PLEKHG5_uc001anp.1_Missense_Mutation_p.Q742H|PLEKHG5_uc001anj.1_Missense_Mutation_p.Q226H|PLEKHG5_uc009vma.1_Missense_Mutation_p.Q505H|PLEKHG5_uc010nzr.1_Missense_Mutation_p.Q734H|PLEKHG5_uc001ank.1_Missense_Mutation_p.Q665H|PLEKHG5_uc009vmb.1_Missense_Mutation_p.Q665H|PLEKHG5_uc001anl.1_Missense_Mutation_p.Q665H|PLEKHG5_uc001anm.1_Missense_Mutation_p.Q665H|PLEKHG5_uc001anr.1_5'Flank	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	721	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGCCACTGGCCTGGAACGTGT	0.562													A	6529449	C	A	6529449	3	1	158	1	0	0	0	0	1	0	0	0	12073	680	24	5	1041	5	PLEKHG5	1	6529449	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	244145	6529449	242721172	17	83798											
RERE	473	broad.mit.edu	37	chr1	8420244	8420244	+	Frame_Shift_Del	DEL	G	G	-													acgggctccttggtgggggaGgggggctctcaggctcctca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:8420244delG	uc001ape.2	-	19	4133	c.3323delC	c.(3322-3324)CCTfs	p.P1108fs	RERE_uc001apf.2_Frame_Shift_Del_p.P1108fs|RERE_uc010nzx.1_Frame_Shift_Del_p.P840fs|RERE_uc001apd.2_Frame_Shift_Del_p.P554fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1108	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGGTGGGGGAGGGGGGCTCTC	0.682													-	8420244	G	-	8420244	7	5	158	1	0	1	0	1	0	0	0	0	13231	1000	35	0	1401	0	RERE	1	8420244	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	1890795	8420244	240830377	18	83799											
RERE	473	broad.mit.edu	37	chr1	8420748	8420748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgtgggcctgtggcgccGgcagctgggggatgggagtg	22	8	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:8420748G>A	uc001ape.2	-	19	3629	c.2819C>T	c.(2818-2820)CCG>CTG	p.P940L	RERE_uc001apf.2_Missense_Mutation_p.P940L|RERE_uc010nzx.1_Missense_Mutation_p.P672L|RERE_uc001apd.2_Missense_Mutation_p.P386L	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	940	Pro-rich.			P -> A (in Ref. 1; BAA95898).	multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTGTGGCGCCGGCAGCTGGGG	0.697													A	8420748	G	A	8420748	3	1	158	1	0	0	0	0	1	0	0	0	13231	1116	39	1	1905	1	RERE	1	8420748	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	504	8420748	240829873	19	83800											
RERE	473	broad.mit.edu	37	chr1	8422838	8422838	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggagcggatgtcttcatTgatgggtgaggtgcgaccat	16	7	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:8422838T>C	uc001ape.2	-	17	2617	c.1807A>G	c.(1807-1809)AAT>GAT	p.N603D	RERE_uc001apf.2_Missense_Mutation_p.N603D|RERE_uc010nzx.1_Missense_Mutation_p.N335D|RERE_uc001apd.2_Missense_Mutation_p.N49D	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	603					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ATGTCTTCATTGATGGGTGAG	0.587													C	8422838	T	C	8422838	3	2	158	1	0	0	0	0	1	0	0	0	13231	1812	63	3	2925	3	RERE	1	8422838	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	2090	8422838	240827783	20	83801											
TMEM201	199953	broad.mit.edu	37	chr1	9657106	9657106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggccgccttcgctccccgcGaggaggtgaggccgggttgg	18	13	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:9657106G>A	uc001apz.2	+	3	436	c.424G>A	c.(424-426)GAG>AAG	p.E142K	TMEM201_uc001apy.2_Missense_Mutation_p.E142K	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	transmembrane protein 201 isoform 1	142						integral to membrane|nuclear inner membrane					0	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CGCTCCCCGCGAGGAGGTGAG	0.677													A	9657106	G	A	9657106	3	1	158	1	0	0	0	0	1	0	0	0	16123	1059	37	1	434	1	TMEM201	1	9657106	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1234268	9657106	239593515	21	83802											
KIF1B	23095	broad.mit.edu	37	chr1	10381844	10381844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcagtttacttcattaCgggacttactctggggcaat	8	10	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:10381844C>T	uc001aqx.3	+	24	2489	c.2287C>T	c.(2287-2289)CGG>TGG	p.R763W	KIF1B_uc001aqw.3_Missense_Mutation_p.R717W|KIF1B_uc001aqy.2_Missense_Mutation_p.R737W|KIF1B_uc001aqz.2_Missense_Mutation_p.R763W|KIF1B_uc001ara.2_Missense_Mutation_p.R723W|KIF1B_uc001arb.2_Missense_Mutation_p.R749W	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	763					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TACTTCATTACGGGACTTACT	0.473													T	10381844	C	T	10381844	3	4	158	1	0	0	0	0	1	0	0	0	8284	527	19	1	3720	1	KIF1B	1	10381844	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	724738	10381844	238868777	22	83803											
KIF1B	23095	broad.mit.edu	37	chr1	10407871	10407872	+	Frame_Shift_Ins	INS	-	-	T													cttgccttgccaggggacatINSttttgcttcatcaggtacta							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:10407870_10407871A>AT	uc001aqx.4	+	35	4051_4052	c.3849_3850A>AT	c.(3847-3852)acatttfs	p.T1283fs	KIF1B_uc001aqw.4_Frame_Shift_Ins_p.T1237fs|KIF1B_uc001aqy.3_Frame_Shift_Ins_p.T1257fs|KIF1B_uc001aqz.3_Frame_Shift_Ins_p.T1283fs|KIF1B_uc001ara.3_Frame_Shift_Ins_p.T1243fs|KIF1B_uc001arb.3_Frame_Shift_Ins_p.T1269fs	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1283					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCCAGGGGACATTTTTGCTTCA	0.411													T	10407872	-	T	10407871	7	5	158	1	0	1	1	0	0	0	0	0	8284	1493	52	0	5331	0	KIF1B	1	10407871	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	26027	10407871	238842750	23	83804											
CASZ1	54897	broad.mit.edu	37	chr1	10703053	10703053	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcatccatcaggcctgggGggccctgaaaggacacgggg	16	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:10703053G>T	uc001aro.2	-	20	4345	c.4025C>A	c.(4024-4026)CCC>CAC	p.P1342H		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CAGGCCTGGGGGGCCCTGAAA	0.637													T	10703053	G	T	10703053	3	4	158	1	0	0	0	0	1	0	0	0	2685	1232	43	5	1262	5	CASZ1	1	10703053	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	295182	10703053	238547568	24	83805											
MTOR	2475	broad.mit.edu	37	chr1	11291474	11291474	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggccaccaactgtccCagggtccacagagccacctg	11	16	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:11291474C>A	uc001asd.2	-	17	2653	c.2532G>T	c.(2530-2532)CTG>CTT	p.L844L		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	844					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						CCAACTGTCCCAGGGTCCACA	0.458													A	11291474	C	A	11291474	2	1	158	1	0	0	0	0	0	0	0	1	9954	581	21	5		5	MTOR	1	11291474	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	588421	11291474	237959147	25	83806											
MAD2L2	10459	broad.mit.edu	37	chr1	11735180	11735180	+	Frame_Shift_Del	DEL	G	G	-													ggtttttagtggtatcagccGggggtcatgcatgtggacat							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:11735179_11735179CG>C	uc001asp.3	-	7	966	c.554_554CG>G	c.(553-555)cggfs	p.R185fs	MAD2L2_uc009vnc.3_Frame_Shift_Del_p.R185fs|MAD2L2_uc001asq.4_Frame_Shift_Del_p.R185fs	NM_006341	NP_006332	Q9UI95	MD2L2_HUMAN	Homo sapiens MAD2 mitotic arrest deficient-like 2 (yeast) (MAD2L2), transcript variant 2, mRNA.	185	HORMA.|Mediates interaction with ipaB.				DNA damage response, signal transduction resulting in transcription|cell division|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTATCAGCCGGGGGTCATG	0.582								DNA polymerases (catalytic subunits)					-	11735180	G	-	11735180	7	5	158	1	0	1	0	1	0	0	0	0	9150	1115	39	0	90	0	MAD2L2	1	11735180	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	443706	11735180	237515441	26	83807											
AGTRAP	57085	broad.mit.edu	37	chr1	11796279	11796279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcgggatggagctgcctgCtgtgaacctgaaggtggcga	17	8	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:11796279C>T	uc001asv.2	+	1	138	c.14C>T	c.(13-15)GCT>GTT	p.A5V	AGTRAP_uc001ast.2_Missense_Mutation_p.A5V|AGTRAP_uc001asu.2_Missense_Mutation_p.A5V|AGTRAP_uc001asw.2_Missense_Mutation_p.A5V|AGTRAP_uc001asx.2_Missense_Mutation_p.A5V	NM_020350	NP_065083	Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein	5	Extracellular (Potential).					cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding		AGTRAP/BRAF(2)	stomach(2)	2	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTGCCTGCTGTGAACCTG	0.612													T	11796279	C	T	11796279	3	4	158	1	0	0	0	0	1	0	0	0	403	797	28	2	16	2	AGTRAP	1	11796279	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	61099	11796279	237454342	27	83808											
MFN2	9927	broad.mit.edu	37	chr1	12049220	12049220	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcacgttagcttctcttgcAgcgcaatgtccctgctcttc	7	15	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:12049220A>T	uc001atn.3	+	3	450	c.-3_splice	c.e3-2		MFN2_uc009vni.2_Splice_Site	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2						blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CTTCTCTTGCAGCGCAATGTC	0.498													T	12049220	A	T	12049220	5	4	158	1	0	0	0	0	0	0	1	0	9524	202	7	5		5	MFN2	1	12049220	Splice_Site	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	252941	12049220	237201401	28	83809											
TNFRSF1B	7133	broad.mit.edu	37	chr1	12267073	12267073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgctgggatgaagcccaGttaaccaggccggtgtgggc	16	9	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:12267073G>A	uc001att.2	+	10	1471	c.1382G>A	c.(1381-1383)AGT>AAT	p.S461N	TNFRSF1B_uc001atu.2_Missense_Mutation_p.S266N|TNFRSF1B_uc009vnk.2_RNA	NM_001066	NP_001057	P20333	TNR1B_HUMAN	tumor necrosis factor receptor 2 precursor	461	Cytoplasmic (Potential).				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			liver(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	ATGAAGCCCAGTTAACCAGGC	0.647													A	12267073	G	A	12267073	3	1	158	1	0	0	0	0	1	0	0	0	16291	1029	36	4	1420	4	TNFRSF1B	1	12267073	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	217853	12267073	236983548	29	83810											
VPS13D	55187	broad.mit.edu	37	chr1	12364662	12364663	+	Frame_Shift_Ins	INS	-	-	T													aacccattcccaggggcagtINStcacgatgcctcttgctgga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:12364661_12364662G>GT	uc001atv.3	+	25	6456_6457	c.6315_6316G>GT	c.(6313-6318)cagttcfs	p.Q2105fs	VPS13D_uc001atw.3_Frame_Shift_Ins_p.Q2105fs|VPS13D_uc001atx.3_Frame_Shift_Ins_p.Q1293fs	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2105					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCCAGGGGCAGTTCACGATGCC	0.564													T	12364663	-	T	12364662	7	5	158	1	0	1	1	0	0	0	0	0	17189	1725	60	0	6414	0	VPS13D	1	12364662	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	97589	12364662	236885959	30	83811											
KAZ	23254	broad.mit.edu	37	chr1	15390105	15390105	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttcagaagaacctgcacaAccctattgtacaggtaggtg	10	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:15390105A>G	uc001avm.3	+	7	1366	c.1085A>G	c.(1084-1086)AAC>AGC	p.N362S	KAZ_uc009vog.1_Missense_Mutation_p.N362S|KAZ_uc010obj.1_Missense_Mutation_p.N362S|KAZ_uc001avo.2_Missense_Mutation_p.N356S|KAZ_uc001avp.2_Missense_Mutation_p.N268S|KAZ_uc001avq.2_Missense_Mutation_p.N268S|KAZ_uc001avr.2_Silent_p.Q263Q	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	362					keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0						AACCTGCACAACCCTATTGTA	0.577													G	15390105	A	G	15390105	3	3	158	1	0	0	0	0	1	0	0	0	7988	43	2	3	1323	3	KAZ	1	15390105	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	3025443	15390105	233860516	31	83812											
CASP9	842	broad.mit.edu	37	chr1	15832493	15832493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcttcctacctgacagcCgtgagagagaatgaccacca	11	12	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:15832493C>T	uc001awn.2	-	5	807	c.712G>A	c.(712-714)GGC>AGC	p.G238S	CASP9_uc001awm.1_Missense_Mutation_p.G238S|CASP9_uc001awo.2_Intron|CASP9_uc001awp.2_Missense_Mutation_p.G82S|CASP9_uc009voi.2_Missense_Mutation_p.G82S|CASP9_uc010obm.1_Missense_Mutation_p.G155S|CASP9_uc001awq.2_Missense_Mutation_p.G155S	NM_001229	NP_001220	P55211	CASP9_HUMAN	caspase 9 isoform alpha preproprotein	238					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(1)|kidney(1)	2		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		ACCTGACAGCCGTGAGAGAGA	0.597													T	15832493	C	T	15832493	3	4	158	1	0	0	0	0	1	0	0	0	2679	652	23	1	558	1	CASP9	1	15832493	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	442388	15832493	233418128	32	83813											
SLC25A34	284723	broad.mit.edu	37	chr1	16065821	16065821	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccccgcctacctgcgcctgGgcccccacaccatcctcagc	8	23	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:16065821G>T	uc001axb.1	+	5	1007	c.835G>T	c.(835-837)GGC>TGC	p.G279C	SLC25A34_uc009vok.1_RNA	NM_207348	NP_997231	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	279	Solcar 3.|Helical; Name=6; (Potential).				transport	integral to membrane|mitochondrial inner membrane					0		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCGCCTGGGCCCCCACAC	0.682													T	16065821	G	T	16065821	3	4	158	1	0	0	0	0	1	0	0	0	14498	1232	43	5	853	5	SLC25A34	1	16065821	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	233328	16065821	233184800	33	83814											
SPEN	23013	broad.mit.edu	37	chr1	16257670	16257670	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccaagtgtcacagtcgtAactctagaatcagccccatc	6	15	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:16257670A>G	uc001axk.1	+	11	5139	c.4935A>G	c.(4933-4935)GTA>GTG	p.V1645V	SPEN_uc010obp.1_Silent_p.V1604V	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1645					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCACAGTCGTAACTCTAGAAT	0.493													G	16257670	A	G	16257670	2	3	158	1	0	0	0	0	0	0	0	1	15037	349	13	3		3	SPEN	1	16257670	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	191849	16257670	232992951	34	83815											
SPEN	23013	broad.mit.edu	37	chr1	16260214	16260214	+	Frame_Shift_Del	DEL	C	C	-													ggggggatcccacaccagagCccccctactaaggtgacaga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:16260213_16260213GC>G	uc001axk.1	+	10	7682	c.7478_7478GC>G	c.(7477-7479)agcfs	p.S2493fs	SPEN_uc010obp.1_Frame_Shift_Del_p.S2452fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2493	Pro-rich.|RID.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCACACCAGAGCCCCCCTACT	0.592													-	16260214	C	-	16260214	7	5	158	1	0	1	0	1	0	0	0	0	15037	738	26	0	7521	0	SPEN	1	16260214	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	2544	16260214	232990407	35	83816											
SPEN	23013	broad.mit.edu	37	chr1	16261773	16261773	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catcccagcagatcgaactgTctcccatttggcagctgcaa	8	14	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:16261773T>A	uc001axk.1	+	11	9242	c.9038T>A	c.(9037-9039)GTC>GAC	p.V3013D	SPEN_uc010obp.1_Missense_Mutation_p.V2972D	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3013					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GATCGAACTGTCTCCCATTTG	0.602													A	16261773	T	A	16261773	3	1	158	1	0	0	0	0	1	0	0	0	15037	1667	58	5	9080	5	SPEN	1	16261773	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1559	16261773	232988848	36	83817											
EPHA2	1969	broad.mit.edu	37	chr1	16461594	16461594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgcgtcagtgcctgcaCctggaccaggtaggtggtgt	14	12	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:16461594C>T	uc001aya.1	-	7	1656	c.1519G>A	c.(1519-1521)GTG>ATG	p.V507M		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	507	Extracellular (Potential).|Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGTGCCTGCACCTGGACCAGG	0.662													T	16461594	C	T	16461594	3	4	158	1	0	0	0	0	1	0	0	0	5167	507	18	4	1455	4	EPHA2	1	16461594	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	199821	16461594	232789027	37	83818											
EPHA2	1969	broad.mit.edu	37	chr1	16464532	16464532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactggcctcacacggcccGcattccccagactcgggcca	9	19	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:16464532G>A	uc001aya.1	-	5	1265	c.1128C>T	c.(1126-1128)TGC>TGT	p.C376C	EPHA2_uc010oca.1_Silent_p.C376C	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	376	Extracellular (Potential).|Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CACACGGCCCGCATTCCCCAG	0.657													A	16464532	G	A	16464532	2	1	158	1	0	0	0	0	0	0	0	1	5167	1079	38	1		1	EPHA2	1	16464532	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2938	16464532	232786089	38	83819											
SPATA21	374955	broad.mit.edu	37	chr1	16736474	16736474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgtccctgcagccaccGcgggcttctgaggctgctgc	13	15	2	1	rs141705517		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:16736474G>A	uc001ayn.2	-	6	692	c.209C>T	c.(208-210)GCG>GTG	p.A70V	SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_Missense_Mutation_p.A47V	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	70							calcium ion binding			ovary(2)|breast(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TGCAGCCACCGCGGGCTTCTG	0.647													A	16736474	G	A	16736474	3	1	158	1	0	0	0	0	1	0	0	0	15006	1087	38	1	1232	1	SPATA21	1	16736474	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	271942	16736474	232514147	39	83820											
ACTL8	81569	broad.mit.edu	37	chr1	18152415	18152415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagggccgccccttgcccGccagcggcaagacgctggag	14	17	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:18152415G>A	uc001bat.2	+	3	718	c.502G>A	c.(502-504)GCC>ACC	p.A168T		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	actin-like 8	168						cytoplasm|cytoskeleton				ovary(4)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCCCTTGCCCGCCAGCGGCAA	0.607											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	18152415	G	A	18152415	3	1	158	1	0	0	0	0	1	0	0	0	202	1087	38	1	508	1	ACTL8	1	18152415	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1415941	18152415	231098206	40	83821											
UBR4	23352	broad.mit.edu	37	chr1	19413188	19413188	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctacctgacggcagccagaTggcagtcgtagtgcacaatg	12	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:19413188T>C	uc001bbi.2	-	100	14676	c.14672A>G	c.(14671-14673)CAT>CGT	p.H4891R	UBR4_uc010ocv.1_Missense_Mutation_p.H414R|UBR4_uc009vph.2_Missense_Mutation_p.H525R|UBR4_uc010ocw.1_Missense_Mutation_p.H555R|UBR4_uc001bbg.2_Missense_Mutation_p.H602R|UBR4_uc001bbh.2_Missense_Mutation_p.H600R	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	4891					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCAGCCAGATGGCAGTCGTA	0.597													C	19413188	T	C	19413188	3	2	158	1	0	0	0	0	1	0	0	0	16901	1464	51	3	907	3	UBR4	1	19413188	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1260773	19413188	229837433	41	83822											
UBR4	23352	broad.mit.edu	37	chr1	19503100	19503100	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgacctgatgagaaatgcTtagaccagttttcttctact	7	9	3	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:19503100T>G	uc001bbi.2	-	20	2763	c.2759A>C	c.(2758-2760)AAG>ACG	p.K920T	UBR4_uc001bbm.1_Missense_Mutation_p.K131T	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	920					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGAGAAATGCTTAGACCAGTT	0.468													G	19503100	T	G	19503100	3	3	158	1	0	0	0	0	1	0	0	0	16901	1609	56	5	13140	5	UBR4	1	19503100	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	89912	19503100	229747521	42	83823											
PQLC2	54896	broad.mit.edu	37	chr1	19653833	19653833	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaccccgaggagggccagaGcgagggcagctacctgctgc	15	13	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:19653833G>T	uc001bby.2	+	8	1083	c.731G>T	c.(730-732)AGC>ATC	p.S244I	PQLC2_uc001bbz.2_Missense_Mutation_p.S179I|PQLC2_uc001bca.2_Missense_Mutation_p.S244I|PQLC2_uc001bcb.2_Missense_Mutation_p.S133I|PQLC2_uc001bcc.2_Missense_Mutation_p.S133I	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	244	Extracellular (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGCCAGAGCGAGGGCAGC	0.642													T	19653833	G	T	19653833	3	4	158	1	0	0	0	0	1	0	0	0	12419	971	34	5	753	5	PQLC2	1	19653833	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	150733	19653833	229596788	43	83824											
EIF4G3	8672	broad.mit.edu	37	chr1	21226332	21226332	+	Frame_Shift_Del	DEL	T	T	-													ttttcttccacagctttcacTttttttaggtcagaggggtc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:21226331_21226331CT>C	uc001bec.3	-	10	1946	c.1690_1690AG>G	c.(1690-1692)gtgfs	p.V564fs	EIF4G3_uc010odi.2_Frame_Shift_Del_p.V168fs|EIF4G3_uc010odj.2_Frame_Shift_Del_p.V563fs|EIF4G3_uc009vpz.3_Frame_Shift_Del_p.V284fs|EIF4G3_uc001bef.3_Frame_Shift_Del_p.V563fs|EIF4G3_uc001bee.3_Frame_Shift_Del_p.V570fs	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	564					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACAGCTTTCACTTTTTTTAGG	0.438													-	21226332	T	-	21226332	7	5	158	1	0	1	0	1	0	0	0	0	5038	1606	56	0	3156	0	EIF4G3	1	21226332	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	1572499	21226332	228024289	44	83825											
LDLRAD2	401944	broad.mit.edu	37	chr1	22142503	22142503	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaagcctcgtgtgtgacccCtggggcatggacaactgtgg	14	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:22142503C>A	uc001bfg.1	+	3	766	c.579C>A	c.(577-579)CCC>CCA	p.P193P		NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain	193	Extracellular (Potential).|LDL-receptor class A.					integral to membrane	receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		TGTGTGACCCCTGGGGCATGG	0.617													A	22142503	C	A	22142503	2	1	158	1	0	0	0	0	0	0	0	1	8706	668	24	5		5	LDLRAD2	1	22142503	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	916171	22142503	227108118	45	83826											
HSPG2	3339	broad.mit.edu	37	chr1	22154539	22154539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaccttgttggcagcgtggGccagagaagccagggaggca	17	9	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:22154539G>A	uc001bfj.2	-	90	12556	c.12516C>T	c.(12514-12516)GGC>GGT	p.G4172G	HSPG2_uc001bfi.2_Silent_p.G189G|HSPG2_uc009vqd.2_Silent_p.G4173G	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	4172	EGF-like 4.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGCAGCGTGGGCCAGAGAAGC	0.642													A	22154539	G	A	22154539	2	1	158	1	0	0	0	0	0	0	0	1	7430	1190	42	2		2	HSPG2	1	22154539	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	12036	22154539	227096082	46	83827											
HSPG2	3339	broad.mit.edu	37	chr1	22160011	22160011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgccctggcggttagtggCggtgcagacgtaggtacctg	16	10	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:22160011C>T	uc001bfj.2	-	79	10967	c.10927G>A	c.(10927-10929)GCC>ACC	p.A3643T	HSPG2_uc001bfi.2_5'Flank|HSPG2_uc009vqd.2_Missense_Mutation_p.A3644T	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3643	Ig-like C2-type 22.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGGTTAGTGGCGGTGCAGACG	0.622													T	22160011	C	T	22160011	3	4	158	1	0	0	0	0	1	0	0	0	7430	768	27	1	2324	1	HSPG2	1	22160011	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	5472	22160011	227090610	47	83828											
HSPG2	3339	broad.mit.edu	37	chr1	22166485	22166485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggcacacataagtgcccGcatctgatggtttagctgat	10	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:22166485G>A	uc001bfj.2	-	72	9579	c.9539C>T	c.(9538-9540)GCG>GTG	p.A3180V	HSPG2_uc009vqd.2_Missense_Mutation_p.A3181V	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3180	Ig-like C2-type 17.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ATAAGTGCCCGCATCTGATGG	0.587													A	22166485	G	A	22166485	3	1	158	1	0	0	0	0	1	0	0	0	7430	1087	38	1	3740	1	HSPG2	1	22166485	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	6474	22166485	227084136	48	83829											
C1QB	713	broad.mit.edu	37	chr1	22987468	22987468	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaatcgggagactacaaGgccacccagaaaatcgcctt	11	11	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:22987468G>T	uc001bgd.2	+	3	483	c.351G>T	c.(349-351)AAG>AAT	p.K117N		NM_000491	NP_000482	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	117	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAGACTACAAGGCCACCCAGA	0.617													T	22987468	G	T	22987468	3	4	158	1	0	0	0	0	1	0	0	0	1955	991	35	5	357	5	C1QB	1	22987468	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	820983	22987468	226263153	49	83830											
HMGCL	3155	broad.mit.edu	37	chr1	24140706	24140706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaaatattggctgactgCgctgccttcaggattgcgtc	11	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:24140706C>T	uc001bib.2	-	5	515	c.471G>A	c.(469-471)GCG>GCA	p.A157A	HMGCL_uc010oec.1_Intron|HMGCL_uc009vqr.2_Intron|HMGCL_uc001bic.2_Silent_p.A132A|HMGCL_uc009vqs.1_Intron|HMGCL_uc001bid.1_Silent_p.A157A	NM_000191	NP_000182	P35914	HMGCL_HUMAN	3-hydroxy-3-methylglutaryl CoA lyase isoform 1	157					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		TGGCTGACTGCGCTGCCTTCA	0.493													T	24140706	C	T	24140706	2	4	158	1	0	0	0	0	0	0	0	1	7229	755	27	1		1	HMGCL	1	24140706	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1153238	24140706	225109915	50	83831											
MYOM3	127294	broad.mit.edu	37	chr1	24398464	24398464	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggactgcttgcttacctgggTttctgatctcatgactcagc	10	11	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:24398464T>G	uc001bin.3	-	24	3171	c.3008A>C	c.(3007-3009)AAC>ACC	p.N1003T	MYOM3_uc001bim.3_Missense_Mutation_p.N660T|MYOM3_uc001bio.2_Missense_Mutation_p.N1003T	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	1003										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTTACCTGGGTTTCTGATCTC	0.537													G	24398464	T	G	24398464	3	3	158	1	0	0	0	0	1	0	0	0	10093	1725	60	5	1361	5	MYOM3	1	24398464	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	257758	24398464	224852157	51	83832											
IL28RA	163702	broad.mit.edu	37	chr1	24484104	24484104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtccaccccaccagcctccGagtgccctggagcctggtgc	11	18	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:24484104G>A	uc001bis.2	-	7	1092	c.1079C>T	c.(1078-1080)TCG>TTG	p.S360L	IL28RA_uc001bir.2_Missense_Mutation_p.S331L|IL28RA_uc001bit.2_3'UTR|IL28RA_uc001biu.2_Missense_Mutation_p.S276L	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	interleukin 28 receptor, alpha isoform 1	360	Cytoplasmic (Potential).				cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		ACCAGCCTCCGAGTGCCCTGG	0.612													A	24484104	G	A	24484104	3	1	158	1	0	0	0	0	1	0	0	0	7684	1059	37	1	487	1	IL28RA	1	24484104	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	85640	24484104	224766517	52	83833											
NIPAL3	57185	broad.mit.edu	37	chr1	24779967	24779967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacgccaacaacattgtcGtgattcttctcttggtggcg	10	10	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:24779967G>A	uc001bjh.2	+	7	1017	c.610G>A	c.(610-612)GTG>ATG	p.V204M	NIPAL3_uc010oek.1_Missense_Mutation_p.V204M|NIPAL3_uc001bjg.2_Missense_Mutation_p.V204M|NIPAL3_uc009vrc.2_Missense_Mutation_p.V122M|NIPAL3_uc001bji.2_5'Flank	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	204	Helical; (Potential).					integral to membrane					0						CAACATTGTCGTGATTCTTCT	0.483													A	24779967	G	A	24779967	3	1	158	1	0	0	0	0	1	0	0	0	10426	1145	40	1	632	1	NIPAL3	1	24779967	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	295863	24779967	224470654	53	83834											
MAN1C1	57134	broad.mit.edu	37	chr1	26104809	26104809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtcacgagtcatacgccCgctcaggtaaccctgcaagg	11	14	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:26104809C>T	uc001bkm.2	+	9	1801	c.1471C>T	c.(1471-1473)CGC>TGC	p.R491C	MAN1C1_uc009vry.1_Missense_Mutation_p.R311C|MAN1C1_uc001bkn.2_5'Flank	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	491	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(1)	1		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GTCATACGCCCGCTCAGGTAA	0.597													T	26104809	C	T	26104809	3	4	158	1	0	0	0	0	1	0	0	0	9213	652	23	1	1505	1	MAN1C1	1	26104809	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1324842	26104809	223145812	54	83835											
TRIM63	84676	broad.mit.edu	37	chr1	26383771	26383771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagtccatgttctcaaagCcctgctctgtcttccccagc	7	15	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:26383771C>T	uc001bli.1	-	7	1038	c.902G>A	c.(901-903)GGC>GAC	p.G301D		NM_032588	NP_115977	Q969Q1	TRI63_HUMAN	muscle specific ring finger protein 1	301	COS.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GTTCTCAAAGCCCTGCTCTGT	0.537													T	26383771	C	T	26383771	3	4	158	1	0	0	0	0	1	0	0	0	16535	739	26	2	171	2	TRIM63	1	26383771	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	278962	26383771	222866850	55	83836											
ZNF683	257101	broad.mit.edu	37	chr1	26694188	26694188	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgtaggcaggccagcagtGcagacctgcccggtgccagg	15	14	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:26694188G>T	uc001bmg.1	-	3	333	c.215C>A	c.(214-216)GCA>GAA	p.A72E	ZNF683_uc001bmh.1_Missense_Mutation_p.A72E|ZNF683_uc009vsj.1_Missense_Mutation_p.A72E	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	zinc finger protein 683	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGCCAGCAGTGCAGACCTGCC	0.652													T	26694188	G	T	26694188	3	4	158	1	0	0	0	0	1	0	0	0	18087	1319	46	5	1315	5	ZNF683	1	26694188	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	310417	26694188	222556433	56	83837											
ARID1A	8289	broad.mit.edu	37	chr1	27105690	27105690	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggaagaagaagaagaActtctaggtcctaaactaga	13	5	1	5			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:27105690A>G	uc001bmv.1	+	20	5674	c.5301A>G	c.(5299-5301)GAA>GAG	p.E1767E	ARID1A_uc001bmu.1_Silent_p.E1550E|ARID1A_uc001bmx.1_Silent_p.E613E|ARID1A_uc009vsm.1_Silent_p.E95E|ARID1A_uc009vsn.1_Silent_p.E9E	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1767					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AAGAAGAAGAACTTCTAGGTC	0.488			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								G	27105690	A	G	27105690	2	3	158	1	0	0	0	0	0	0	0	1	913	40	2	3		3	ARID1A	1	27105690	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	411502	27105690	222144931	57	83838											
ARID1A	8289	broad.mit.edu	37	chr1	27105931	27105932	+	Frame_Shift_Ins	INS	-	-	G													gctgcactggcggattggtgINSggggggacaccactgagcat					rs140055856		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:27105930_27105931T>TG	uc001bmv.1	+	19	5914_5915	c.5541_5542T>TG	c.(5539-5544)ggtgggfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Ins_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Ins_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Ins_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(6)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								G	27105932	-	G	27105931	7	5	158	1	0	1	1	0	0	0	0	0	913	1348	47	0	5620	0	ARID1A	1	27105931	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	241	27105931	222144690	58	83839											
PIGV	55650	broad.mit.edu	37	chr1	27121141	27121141	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccactggggtacgctccaacGggctggtcagtgttggcttc	14	12	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:27121141G>T	uc001bmz.2	+	3	947	c.616G>T	c.(616-618)GGG>TGG	p.G206W	PIGV_uc001bmy.2_Intron|PIGV_uc009vso.2_Missense_Mutation_p.G206W|PIGV_uc010ofg.1_Intron|PIGV_uc001bna.2_Missense_Mutation_p.G206W	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan class V	206	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			ovary(1)	1		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		ACGCTCCAACGGGCTGGTCAG	0.537													T	27121141	G	T	27121141	3	4	158	1	0	0	0	0	1	0	0	0	11901	1116	39	5	622	5	PIGV	1	27121141	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	15210	27121141	222129480	59	83840											
NR0B2	8431	broad.mit.edu	37	chr1	27240230	27240230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcaggttcctgaggaaggCcactgtcttggccagaacat	13	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:27240230C>T	uc001bnf.2	-	1	338	c.202G>A	c.(202-204)GCC>ACC	p.A68T		NM_021969	NP_068804	Q15466	NR0B2_HUMAN	short heterodimer partner	68	Ligand-binding (By similarity).				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity				0		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CTGAGGAAGGCCACTGTCTTG	0.662													T	27240230	C	T	27240230	3	4	158	1	0	0	0	0	1	0	0	0	10614	739	26	2	579	2	NR0B2	1	27240230	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	119089	27240230	222010391	60	83841											
WDTC1	23038	broad.mit.edu	37	chr1	27630238	27630238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatcagttccgctactgcgGccactgcaacaccaccacgg	8	17	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:27630238G>A	uc009vst.2	+	14	2130	c.1595G>A	c.(1594-1596)GGC>GAC	p.G532D	WDTC1_uc001bno.2_Missense_Mutation_p.G531D|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Missense_Mutation_p.G210D	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	532							protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CGCTACTGCGGCCACTGCAAC	0.547													A	27630238	G	A	27630238	3	1	158	1	0	0	0	0	1	0	0	0	17339	1203	42	2	1642	2	WDTC1	1	27630238	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	390008	27630238	221620383	61	83842											
FCN3	8547	broad.mit.edu	37	chr1	27695732	27695732	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctgccagagtgccctatcGaagcatcatccgaaccctgc	10	15	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:27695732G>A	uc001boa.2	-	8	901	c.895C>T	c.(895-897)CGA>TGA	p.R299*	MAP3K6_uc001bny.1_5'Flank|MAP3K6_uc009vsw.1_5'Flank|FCN3_uc001bob.2_Nonsense_Mutation_p.R288*	NM_003665	NP_003656	O75636	FCN3_HUMAN	ficolin 3 isoform 1 precursor	299	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding				0		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GTGCCCTATCGAAGCATCATC	0.597													A	27695732	G	A	27695732	4	1	158	1	0	0	0	0	0	1	0	0	5793	1066	37	1	8	1	FCN3	1	27695732	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	65494	27695732	221554889	62	83843											
MED18	54797	broad.mit.edu	37	chr1	28661116	28661116	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccctggcatctgcgctacCtgggacagccagaaatggga	12	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:28661116C>A	uc001bpt.3	+	3	507	c.262C>A	c.(262-264)CTG>ATG	p.L88M	MED18_uc009vtg.2_Missense_Mutation_p.L88M	NM_017638	NP_060108	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	88					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding				0		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGCGCTACCTGGGACAGCC	0.567													A	28661116	C	A	28661116	3	1	158	1	0	0	0	0	1	0	0	0	9436	680	24	5	268	5	MED18	1	28661116	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	965384	28661116	220589505	63	83844											
PTPRU	10076	broad.mit.edu	37	chr1	29647292	29647292	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctacgattacgggtgcacCtccatcgtcatgctcaacca	8	14	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:29647292C>A	uc001bru.2	+	27	3923	c.3813C>A	c.(3811-3813)ACC>ACA	p.T1271T	PTPRU_uc001brv.2_Silent_p.T1267T|PTPRU_uc001brw.2_Silent_p.T1261T|PTPRU_uc009vtq.2_Silent_p.T1267T|PTPRU_uc009vtr.2_Silent_p.T1258T|PTPRU_uc001brx.2_5'UTR	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1271	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ACGGGTGCACCTCCATCGTCA	0.632													A	29647292	C	A	29647292	2	1	158	1	0	0	0	0	0	0	0	1	12813	668	24	5		5	PTPRU	1	29647292	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	986176	29647292	219603329	64	83845											
FABP3	2170	broad.mit.edu	37	chr1	31845853	31845853	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaggtgcccaggaaagcGtccaccatagtgatgctggg	13	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:31845853G>A	uc001bss.1	-	1	71	c.9C>T	c.(7-9)GAC>GAT	p.D3D		NM_004102	NP_004093	P05413	FABPH_HUMAN	fatty acid binding protein 3	3					negative regulation of cell proliferation					ovary(1)	1		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		CCAGGAAAGCGTCCACCATAG	0.587													A	31845853	G	A	31845853	2	1	158	1	0	0	0	0	0	0	0	1	5358	1136	40	1		1	FABP3	1	31845853	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2198561	31845853	217404768	65	83846											
TINAGL1	64129	broad.mit.edu	37	chr1	32050532	32050532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattctctgggacacatgaCgcctgtcctgtcgccccaga	9	16	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:32050532C>T	uc001bta.2	+	7	878	c.752C>T	c.(751-753)ACG>ATG	p.T251M	TINAGL1_uc001bsz.2_Missense_Mutation_p.T106M|TINAGL1_uc010ogj.1_Missense_Mutation_p.T220M|TINAGL1_uc010ogk.1_Missense_Mutation_p.T251M	NM_022164	NP_071447	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	251					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity				0		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		GGACACATGACGCCTGTCCTG	0.637													T	32050532	C	T	32050532	3	4	158	1	0	0	0	0	1	0	0	0	15919	536	19	1	774	1	TINAGL1	1	32050532	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	204679	32050532	217200089	66	83847											
KIAA1522	57648	broad.mit.edu	37	chr1	33236965	33236965	+	Frame_Shift_Del	DEL	C	C	-													tcatctccaaagaccagtcaCccccaccttccccaccccca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:33236964_33236964AC>A	uc001bvu.1	+	5	2228	c.2184_2184AC>A	c.(2182-2184)tcafs	p.S728fs	KIAA1522_uc010ohm.1_Frame_Shift_Del_p.S680fs|KIAA1522_uc001bvv.2_Frame_Shift_Del_p.S669fs|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	669	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AAGACCAGTCACCCCCACCTT	0.592													-	33236965	C	-	33236965	7	5	158	1	0	1	0	1	0	0	0	0	8238	507	18	0	2207	0	KIAA1522	1	33236965	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	1186433	33236965	216013656	67	83848											
ZMYM1	79830	broad.mit.edu	37	chr1	35579555	35579555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaaattggagttgatatGgataaaatacatggccaggc	11	6	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:35579555G>A	uc001bym.2	+	11	2272	c.2124G>A	c.(2122-2124)ATG>ATA	p.M708I	ZMYM1_uc001byn.2_Missense_Mutation_p.M708I|ZMYM1_uc010ohu.1_Missense_Mutation_p.M689I|ZMYM1_uc001byo.2_Missense_Mutation_p.M348I|ZMYM1_uc009vut.2_Missense_Mutation_p.M633I	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM domain containing 1	708						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAGTTGATATGGATAAAATAC	0.353													A	35579555	G	A	35579555	3	1	158	1	0	0	0	0	1	0	0	0	17696	1348	47	4	2158	4	ZMYM1	1	35579555	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2342590	35579555	213671066	68	83849											
ZMYM4	9202	broad.mit.edu	37	chr1	35836080	35836081	+	Frame_Shift_Ins	INS	-	-	A													agtttcctgttctggttgtaINSaaaaaatcctccagaagggg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:35836079_35836080T>TA	uc001byt.3	+	6	1112_1113	c.1032_1033T>TA	c.(1030-1035)tgtaaafs	p.C344fs	ZMYM4_uc009vuu.3_Frame_Shift_Ins_p.C312fs|ZMYM4_uc001byu.3_Frame_Shift_Ins_p.C20fs|ZMYM4_uc009vuv.3_Frame_Shift_Ins_p.C83fs|AF119915_uc001byv.2_5'Flank	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	344					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTTCTGGTTGTAAAAAAATCCT	0.48													A	35836081	-	A	35836080	7	5	158	1	0	1	1	0	0	0	0	0	17699	363	13	0	1059	0	ZMYM4	1	35836080	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	256525	35836080	213414541	69	83850											
TEKT2	27285	broad.mit.edu	37	chr1	36552383	36552384	+	Frame_Shift_Del	DEL	TC	TC	-													ctagagatcgacagaggctgTctctctctcaacctcagatc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:36552382_36552383GTC>G	uc001bzr.3	+	4	693_694	c.566_567GTC>G	c.(565-567)tgtfs	p.C189fs	TEKT2_uc001bzs.3_Frame_Shift_Del_p.C95fs|ADPRHL2_uc001bzt.3_5'Flank	NM_014466	NP_055281	Q9UIF3	TEKT2_HUMAN	Homo sapiens tektin 2 (testicular) (TEKT2), mRNA.	189					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GACAGAGGCTGTCTCTCTCTCA	0.54													-	36552384	TC	-	36552383	7	5	158	1	0	1	0	1	0	0	0	0	15750	1673	58	0	581	0	TEKT2	1	36552383	Frame_Shift_Del	DEL	TC	TCGA-CD-A4MG-01A-11D-A25D-08	716303	36552383	212698238	70	83851											
CSF3R	1441	broad.mit.edu	37	chr1	36945039	36945039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggccatactcacttccgGggagcagcaggatgatcagg	13	11	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:36945039G>A	uc001caw.1	-	3	237	c.59C>T	c.(58-60)CCC>CTC	p.P20L	CSF3R_uc001cav.1_Missense_Mutation_p.P20L|CSF3R_uc001cax.1_Missense_Mutation_p.P20L|CSF3R_uc001cay.1_Missense_Mutation_p.P20L	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	20					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTCACTTCCGGGGAGCAGCAG	0.542													A	36945039	G	A	36945039	3	1	158	1	0	0	0	0	1	0	0	0	3937	1232	43	4	2701	4	CSF3R	1	36945039	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	392656	36945039	212305582	71	83852											
ZC3H12A	80149	broad.mit.edu	37	chr1	37948713	37948713	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actcccgtacgtctcccaggAttgcctggactcgggcattg	11	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:37948713A>T	uc001cbb.3	+	6	1451	c.1301A>T	c.(1300-1302)GAT>GTT	p.D434V	ZC3H12A_uc001cbc.1_Missense_Mutation_p.D229V	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	434					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCTCCCAGGATTGCCTGGAC	0.672													T	37948713	A	T	37948713	3	4	158	1	0	0	0	0	1	0	0	0	17558	333	12	5	1319	5	ZC3H12A	1	37948713	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1003674	37948713	211301908	72	83853											
MANEAL	149175	broad.mit.edu	37	chr1	38265378	38265378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacgggccccattcgatcCgcaacacgccctacgatggg	10	16	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:38265378C>T	uc001cby.2	+	4	958	c.877C>T	c.(877-879)CGC>TGC	p.R293C	MANEAL_uc001cbx.2_Intron|MANEAL_uc001cbz.2_Missense_Mutation_p.R71C	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like isoform 3	293	Lumenal (Potential).					Golgi membrane|integral to membrane	hydrolase activity				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCATTCGATCCGCAACACGCC	0.592													T	38265378	C	T	38265378	3	4	158	1	0	0	0	0	1	0	0	0	9222	652	23	1	891	1	MANEAL	1	38265378	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	316665	38265378	210985243	73	83854											
INPP5B	3633	broad.mit.edu	37	chr1	38351483	38351483	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactggaacctgatcgccacGcctcccttgttgccctatgg	9	15	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:38351483G>A	uc001ccg.1	-	13	1240	c.1146C>T	c.(1144-1146)GGC>GGT	p.G382G	INPP5B_uc009vvk.1_Silent_p.G323G|INPP5B_uc001ccf.1_Silent_p.G218G|INPP5B_uc010oij.1_Intron	NM_005540	NP_005531	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	462					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			urinary_tract(1)	1	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGATCGCCACGCCTCCCTTGT	0.423													A	38351483	G	A	38351483	2	1	158	1	0	0	0	0	0	0	0	1	7755	1074	38	1		1	INPP5B	1	38351483	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	86105	38351483	210899138	74	83855											
MACF1	23499	broad.mit.edu	37	chr1	39753010	39753010	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtctagagtgtacaaacCtgtaccggaagggtcatttc	11	9	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:39753010C>A	uc010ois.1	+	16	1781	c.1576C>A	c.(1576-1578)CTG>ATG	p.L526M	MACF1_uc001cda.1_Missense_Mutation_p.L434M	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	526					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGTACAAACCTGTACCGGAA	0.433													A	39753010	C	A	39753010	3	1	158	1	0	0	0	0	1	0	0	0	9144	680	24	5	1630	5	MACF1	1	39753010	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1401527	39753010	209497611	75	83856											
KIAA0754	643314	broad.mit.edu	37	chr1	39878979	39878979	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaccccagaggagcccacCtccccagctgctgcagtgcc	9	21	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:39878979C>A	uc009vvt.1	+	1	3804	c.3042C>A	c.(3040-3042)ACC>ACA	p.T1014T	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	878	Ala-rich.|1.										0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGAGCCCACCTCCCCAGCTG	0.692													A	39878979	C	A	39878979	2	1	158	1	0	0	0	0	0	0	0	1	8192	668	24	5		5	KIAA0754	1	39878979	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	125969	39878979	209371642	76	83857											
MACF1	23499	broad.mit.edu	37	chr1	39905101	39905101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaccatcaaagacacccagGatattgtccatgacttggaa	7	12	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:39905101G>A	uc010oiu.1	+	37	13836	c.13705G>A	c.(13705-13707)GAT>AAT	p.D4569N	MACF1_uc010ois.1_Missense_Mutation_p.D4067N	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGACACCCAGGATATTGTCCA	0.433													A	39905101	G	A	39905101	3	1	158	1	0	0	0	0	1	0	0	0	9144	1174	41	4	18620	4	MACF1	1	39905101	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	26122	39905101	209345520	77	83858											
HEYL	26508	broad.mit.edu	37	chr1	40105268	40105268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccgtcggactccccgtcGgagccgctcggctccttggg	15	16	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:40105268G>A	uc001cdp.2	-	1	81	c.30C>T	c.(28-30)TCC>TCT	p.S10S		NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	hairy/enhancer-of-split related with YRPW	10					multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S10S(1)		ovary(1)	1	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACTCCCCGTCGGAGCCGCTCG	0.667													A	40105268	G	A	40105268	2	1	158	1	0	0	0	0	0	0	0	1	7080	1103	39	1		1	HEYL	1	40105268	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	200167	40105268	209145353	78	83859											
TRIT1	54802	broad.mit.edu	37	chr1	40313688	40313688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacattcttctgattatagCgtctgtgaaaatctcttagt	6	7	4	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:40313688C>T	uc010oiz.1	-	6	799	c.785G>A	c.(784-786)CGC>CAC	p.R262H	TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_5'UTR|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Missense_Mutation_p.R16H|TRIT1_uc001ceh.3_Missense_Mutation_p.R16H|TRIT1_uc009vvv.2_Missense_Mutation_p.R121H|TRIT1_uc001cei.3_Missense_Mutation_p.R16H|TRIT1_uc001ceq.2_5'UTR|TRIT1_uc001cek.2_5'UTR|TRIT1_uc009vvx.2_Intron|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Missense_Mutation_p.R180H|TRIT1_uc001cen.2_Missense_Mutation_p.R16H|TRIT1_uc001ceo.2_Missense_Mutation_p.R16H|TRIT1_uc001cep.2_Missense_Mutation_p.R16H	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1 precursor	262					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			ovary(1)	1	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTGATTATAGCGTCTGTGAAA	0.413													T	40313688	C	T	40313688	3	4	158	1	0	0	0	0	1	0	0	0	16557	768	27	1	642	1	TRIT1	1	40313688	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	208420	40313688	208936933	79	83860											
RLF	6018	broad.mit.edu	37	chr1	40706021	40706021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaaacagcttcattatcttCggccagtggtggttcttgaa	9	8	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:40706021C>T	uc001cfc.3	+	8	5678	c.5647C>T	c.(5647-5649)CGG>TGG	p.R1883W	RLF_uc001cfd.3_Missense_Mutation_p.R1574W	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1883					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TCATTATCTTCGGCCAGTGGT	0.388													T	40706021	C	T	40706021	3	4	158	1	0	0	0	0	1	0	0	0	13389	875	31	1	5677	1	RLF	1	40706021	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	392333	40706021	208544600	80	83861											
ZNF684	127396	broad.mit.edu	37	chr1	41012382	41012383	+	Frame_Shift_Ins	INS	-	-	A													caagtcttaatccaatgagaINSaaaaaatcatataaatcgtt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:41012381_41012382G>GA	uc001cft.2	+	4	637_638	c.386_387G>GA	c.(385-387)agafs	p.R129fs		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	Homo sapiens zinc finger protein 684 (ZNF684), mRNA.	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			AATCCAATGAGAAAAAAATCAT	0.297													A	41012383	-	A	41012382	7	5	158	1	0	1	1	0	0	0	0	0	18088	243	9	0	401	0	ZNF684	1	41012382	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	306361	41012382	208238239	81	83862											
NFYC	4802	broad.mit.edu	37	chr1	41223946	41223946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgggcagatcatcatcGcacagcctcagcagggccag	12	14	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:41223946G>A	uc001cge.2	+	5	549	c.541G>A	c.(541-543)GCA>ACA	p.A181T	NFYC_uc010ojm.1_Missense_Mutation_p.A87T|NFYC_uc001cfx.3_Missense_Mutation_p.A181T|NFYC_uc009vwd.2_Missense_Mutation_p.A181T|NFYC_uc001cfz.2_Missense_Mutation_p.A181T|NFYC_uc010ojn.1_Missense_Mutation_p.A143T|NFYC_uc001cfy.3_Missense_Mutation_p.A181T|NFYC_uc001cgc.2_Missense_Mutation_p.A181T|NFYC_uc001cgb.2_Missense_Mutation_p.A181T|NFYC_uc001cgd.3_Missense_Mutation_p.A181T	NM_001142588	NP_001136060	Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma isoform 1	181					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|kidney(1)	3	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GATCATCATCGCACAGCCTCA	0.607													A	41223946	G	A	41223946	3	1	158	1	0	0	0	0	1	0	0	0	10391	1087	38	1	559	1	NFYC	1	41223946	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	211564	41223946	208026675	82	83863											
SCMH1	22955	broad.mit.edu	37	chr1	41514425	41514425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggttttctggtgataagCacagtcgatacaggcctgga	13	8	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:41514425C>T	uc001cgo.2	-	11	1524	c.1213G>A	c.(1213-1215)GCT>ACT	p.A405T	SCMH1_uc010ojr.1_Missense_Mutation_p.A247T|SCMH1_uc001cgp.2_Missense_Mutation_p.A344T|SCMH1_uc001cgr.2_Missense_Mutation_p.A344T|SCMH1_uc001cgs.2_Missense_Mutation_p.A415T|SCMH1_uc001cgt.2_Missense_Mutation_p.A344T|SCMH1_uc001cgq.2_Missense_Mutation_p.A358T|SCMH1_uc010ojs.1_RNA	NM_001031694	NP_001026864	Q96GD3	SCMH1_HUMAN	sex comb on midleg 1 isoform 1	405					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				TGGTGATAAGCACAGTCGATA	0.527													T	41514425	C	T	41514425	3	4	158	1	0	0	0	0	1	0	0	0	13908	710	25	2	793	2	SCMH1	1	41514425	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	290479	41514425	207736196	83	83864											
HIVEP3	59269	broad.mit.edu	37	chr1	42045429	42045429	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtcatgcggggcttgcgGgagctggatggcacaagcct	16	10	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:42045429G>A	uc001cgz.3	-	4	6253	c.5040C>T	c.(5038-5040)TCC>TCT	p.S1680S	HIVEP3_uc001cha.3_Silent_p.S1680S|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1680					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGGCTTGCGGGAGCTGGATG	0.512													A	42045429	G	A	42045429	2	1	158	1	0	0	0	0	0	0	0	1	7188	1219	43	4		4	HIVEP3	1	42045429	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	531004	42045429	207205192	84	83865											
HIVEP3	59269	broad.mit.edu	37	chr1	42045971	42045971	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggatctgaggacaggctggAcagcatttctagctccctcc	11	12	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:42045971A>G	uc001cgz.3	-	4	5711	c.4498T>C	c.(4498-4500)TCC>CCC	p.S1500P	HIVEP3_uc001cha.3_Missense_Mutation_p.S1500P|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1500					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GACAGGCTGGACAGCATTTCT	0.562													G	42045971	A	G	42045971	3	3	158	1	0	0	0	0	1	0	0	0	7188	275	10	3	2746	3	HIVEP3	1	42045971	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	542	42045971	207204650	85	83866											
FAM183A	440585	broad.mit.edu	37	chr1	43613619	43613619	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagggcgcgtggcagcccaaGgccatggcgggacacccaaa	16	13	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:43613619G>T	uc009vwo.2	+	1	26	c.-3G>T	c.(-5--1)AAGGC>AATGC			NM_001101376	NP_001094846	A6NL82	F183A_HUMAN	hCG23177											ovary(3)	3						GGCAGCCCAAGGCCATGGCGG	0.607													T	43613619	G	T	43613619	1	4	158	1	0	0	0	0	0	0	0	0	5510	1015	35	5		5	FAM183A	1	43613619	Translation_Start_Site	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1567648	43613619	205637002	86	83867											
MPL	4352	broad.mit.edu	37	chr1	43803832	43803832	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcccgaacatttgaggacCtcacttgcttctgggatgag	10	11	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:43803832C>A	uc001ciw.2	+	2	187	c.142C>A	c.(142-144)CTC>ATC	p.L48I	MPL_uc001civ.2_Missense_Mutation_p.L48I|MPL_uc009vwr.2_Missense_Mutation_p.L41I	NM_005373	NP_005364	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	48	Extracellular (Potential).				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATTTGAGGACCTCACTTGCTT	0.582			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						A	43803832	C	A	43803832	3	1	158	1	0	0	0	0	1	0	0	0	9730	681	24	5	148	5	MPL	1	43803832	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	190213	43803832	205446789	87	83868											
MPL	4352	broad.mit.edu	37	chr1	43804224	43804224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaacagggagaagccccGtgcttgccccctgagttccc	11	16	0	2	rs148276667		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:43804224G>A	uc001ciw.2	+	3	269	c.224G>A	c.(223-225)CGT>CAT	p.R75H	MPL_uc001civ.2_Missense_Mutation_p.R75H|MPL_uc009vwr.2_Missense_Mutation_p.R68H	NM_005373	NP_005364	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	75	Extracellular (Potential).				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGAAGCCCCGTGCTTGCCCC	0.597			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						A	43804224	G	A	43804224	3	1	158	1	0	0	0	0	1	0	0	0	9730	1145	40	1	234	1	MPL	1	43804224	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	392	43804224	205446397	88	83869											
CDC20	991	broad.mit.edu	37	chr1	43825639	43825639	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactcactccgttgccacaGgttatcagaacagactgaaa	8	11	2	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:43825639G>A	uc001cix.2	+	5	529	c.428_splice	c.e5-1	p.G143_splice	CDC20_uc001ciy.2_Splice_Site_p.G143_splice	NM_001255	NP_001246	Q12834	CDC20_HUMAN	cell division cycle 20						activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGTTGCCACAGGTTATCAGAA	0.522													A	43825639	G	A	43825639	5	1	158	1	0	0	0	0	0	0	1	0	3059	1014	35	4	441	4	CDC20	1	43825639	Splice_Site	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	21415	43825639	205424982	89	83870											
KIAA0467	23334	broad.mit.edu	37	chr1	43909433	43909433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagagcataggttttgtgCtggtaccactgcggcccccc	12	13	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:43909433C>T	uc001cjk.1	+	47	6556	c.6094C>T	c.(6094-6096)CTG>TTG	p.L2032L	KIAA0467_uc001cjl.1_5'Flank	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2931						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGTTTTGTGCTGGTACCACT	0.622													T	43909433	C	T	43909433	2	4	158	1	0	0	0	0	0	0	0	1	8178	796	28	2		2	KIAA0467	1	43909433	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	83794	43909433	205341188	90	83871											
PTPRF	5792	broad.mit.edu	37	chr1	44063524	44063524	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagccgcaacggcgttatcaCccagtactccgtggcctacg	10	16	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:44063524C>G	uc001cjr.2	+	12	2259	c.1919C>G	c.(1918-1920)ACC>AGC	p.T640S	PTPRF_uc001cjs.2_Missense_Mutation_p.T640S|PTPRF_uc001cju.2_Missense_Mutation_p.T211S|PTPRF_uc009vwt.2_Missense_Mutation_p.T211S|PTPRF_uc001cjv.2_Intron|PTPRF_uc001cjw.2_5'Flank	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	640	Extracellular (Potential).|Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGCGTTATCACCCAGTACTCC	0.682													G	44063524	C	G	44063524	3	3	158	1	0	0	0	0	1	0	0	0	12801	507	18	5	1957	5	PTPRF	1	44063524	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	154091	44063524	205187097	91	83872											
PTPRF	5792	broad.mit.edu	37	chr1	44083479	44083479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaatgcctacatcgccaCgcagggccccctgcccgaga	11	17	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:44083479C>T	uc001cjr.2	+	25	4608	c.4268C>T	c.(4267-4269)ACG>ATG	p.T1423M	PTPRF_uc001cjs.2_Missense_Mutation_p.T1414M|PTPRF_uc001cju.2_Missense_Mutation_p.T812M|PTPRF_uc009vwt.2_Missense_Mutation_p.T983M|PTPRF_uc001cjv.2_Missense_Mutation_p.T894M|PTPRF_uc001cjw.2_Missense_Mutation_p.T649M	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1423	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TACATCGCCACGCAGGGCCCC	0.592													T	44083479	C	T	44083479	3	4	158	1	0	0	0	0	1	0	0	0	12801	536	19	1	4358	1	PTPRF	1	44083479	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	19955	44083479	205167142	92	83873											
PTCH2	8643	broad.mit.edu	37	chr1	45288194	45288194	+	Frame_Shift_Del	DEL	G	G	-													atggatgtaggcaccaggcaGggggggtgggtggatggcca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:45288193_45288193AG>A	uc010olf.2	-	21	3518	c.3506_3506CT>T	c.(3505-3507)ctgfs	p.L1169fs	PTCH2_uc021omv.1_Intron|PTCH2_uc010olg.2_Frame_Shift_Del_p.L867fs	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	1169					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGCACCAGGCAGGGGGGGTGG	0.657									Basal Cell Nevus syndrome				-	45288194	G	-	45288194	7	5	158	1	0	1	0	1	0	0	0	0	12731	991	35	0	130	0	PTCH2	1	45288194	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	1204715	45288194	203962427	93	83874											
PTCH2	8643	broad.mit.edu	37	chr1	45288282	45288282	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgccccccacctaagcccGcctccctgtggagctggtgg	12	17	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:45288282G>A	uc010olf.1	-	22	3429	c.3417C>T	c.(3415-3417)GGC>GGT	p.G1139G	PTCH2_uc010olg.1_Silent_p.G837G	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	1139	Cytoplasmic (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					ACCTAAGCCCGCCTCCCTGTG	0.642									Basal_Cell_Nevus_syndrome				A	45288282	G	A	45288282	2	1	158	1	0	0	0	0	0	0	0	1	12731	1074	38	1		1	PTCH2	1	45288282	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	88	45288282	203962339	94	83875											
ZSWIM5	57643	broad.mit.edu	37	chr1	45484137	45484137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctctctcagccaaagcGctctcgcaccagcagcatca	7	17	5	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:45484137G>A	uc001cnd.2	-	14	3775	c.3547C>T	c.(3547-3549)CGC>TGC	p.R1183C		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	1183							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					CAGCCAAAGCGCTCTCGCACC	0.547											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	45484137	G	A	45484137	3	1	158	1	0	0	0	0	1	0	0	0	18241	1087	38	1	14	1	ZSWIM5	1	45484137	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	195855	45484137	203766484	95	83876											
IPP	3652	broad.mit.edu	37	chr1	46211986	46211986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacatcacagaaatgctgtCcatttctcatcttattgatt	5	10	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:46211986C>T	uc001cou.2	-	2	365	c.98G>A	c.(97-99)GGA>GAA	p.G33E	IPP_uc001cos.3_Missense_Mutation_p.G33E	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	33						actin cytoskeleton|cytoplasm	actin binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GAAATGCTGTCCATTTCTCAT	0.448													T	46211986	C	T	46211986	3	4	158	1	0	0	0	0	1	0	0	0	7800	855	30	4	1790	4	IPP	1	46211986	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	727849	46211986	203038635	96	83877											
POMGNT1	55624	broad.mit.edu	37	chr1	46660270	46660271	+	Frame_Shift_Ins	INS	-	-	C													gtcttcagcaggactgggtcINScccccaggaagagagggcag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:46660269_46660270T>TC	uc001cpg.3	-	7	1357_1358	c.706_707A>GA	c.(706-708)gacfs	p.D236fs	POMGNT1_uc010olx.2_Frame_Shift_Ins_p.D214fs|POMGNT1_uc010oly.2_Non-coding_Transcript|POMGNT1_uc010olz.2_Frame_Shift_Ins_p.D93fs|POMGNT1_uc001cpe.3_Frame_Shift_Ins_p.D236fs|POMGNT1_uc001cpf.3_5'UTR|POMGNT1_uc001cph.1_5'Flank|POMGNT1_uc001cpi.1_5'Flank	NM_001243766	NP_001230695	Q8WZA1	PMGT1_HUMAN	Homo sapiens protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGNT1), transcript variant 2, mRNA.	236					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CAGGACTGGGTCCCCCCAGGAA	0.589													C	46660271	-	C	46660270	7	5	158	1	0	1	1	0	0	0	0	0	12243	855	30	0	1336	0	POMGNT1	1	46660270	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	448284	46660270	202590351	97	83878											
C1orf190	541468	broad.mit.edu	37	chr1	46685586	46685586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaccagcaccaccgaccgGctggacagtgtctctattgg	11	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:46685586G>A	uc010oma.1	+	2	507	c.414G>A	c.(412-414)CGG>CGA	p.R138R	POMGNT1_uc001cpg.2_5'UTR|POMGNT1_uc001cpf.2_5'UTR	NM_001013615	NP_001013633	Q96LR2	CA190_HUMAN	hypothetical protein LOC541468	138					positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm				ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(166;0.155)					CCACCGACCGGCTGGACAGTG	0.652													A	46685586	G	A	46685586	2	1	158	1	0	0	0	0	0	0	0	1	2023	1190	42	2		2	C1orf190	1	46685586	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	25316	46685586	202565035	98	83879											
UQCRH	7388	broad.mit.edu	37	chr1	46775925	46775925	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgagcgtgtatcctctcgAtcacatacagaagaggattg	11	8	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:46775925A>G	uc001cpp.2	+	3	239	c.180A>G	c.(178-180)CGA>CGG	p.R60R	UQCRH_uc001cpq.2_RNA	NM_006004	NP_005995	P07919	QCR6_HUMAN	ubiquinol-cytochrome c reductase hinge protein	60					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c		ubiquinol-cytochrome-c reductase activity				0	Acute lymphoblastic leukemia(166;0.155)					TATCCTCTCGATCACATACAG	0.522													G	46775925	A	G	46775925	2	3	158	1	0	0	0	0	0	0	0	1	17019	320	12	3		3	UQCRH	1	46775925	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	90339	46775925	202474696	99	83880											
FAF1	11124	broad.mit.edu	37	chr1	50941256	50941256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacgccgctccaagaactcGccactgggggtccggatccg	12	15	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:50941256G>A	uc009vyx.1	-	19	1812	c.1749C>T	c.(1747-1749)GGC>GGT	p.G583G	FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Silent_p.G583G|FAF1_uc010onc.1_Silent_p.G341G	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	FAS-associated factor 1	583	UBX.				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CCAAGAACTCGCCACTGGGGG	0.532													A	50941256	G	A	50941256	2	1	158	1	0	0	0	0	0	0	0	1	5369	1074	38	1		1	FAF1	1	50941256	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4165331	50941256	198309365	100	83881											
NRD1	4898	broad.mit.edu	37	chr1	52258067	52258067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacaagcagctccataagCgtatattctcttagactcct	5	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:52258067C>T	uc001ctc.3	-	27	3331	c.3009G>A	c.(3007-3009)ACG>ACA	p.T1003T	NRD1_uc009vzb.2_Silent_p.T698T|NRD1_uc001ctd.3_Silent_p.T935T|NRD1_uc001cte.2_Silent_p.T871T|NRD1_uc001ctf.2_Silent_p.T935T	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	934					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						GCTCCATAAGCGTATATTCTC	0.473													T	52258067	C	T	52258067	2	4	158	1	0	0	0	0	0	0	0	1	10645	755	27	1		1	NRD1	1	52258067	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1316811	52258067	196992554	101	83882											
ZFYVE9	9372	broad.mit.edu	37	chr1	52703883	52703883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgcgattacaagtttaaCggttgattcagtaatctcat	8	7	3	1	rs142702216		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:52703883C>T	uc001cto.2	+	4	966	c.794C>T	c.(793-795)ACG>ATG	p.T265M	ZFYVE9_uc001ctn.2_Missense_Mutation_p.T265M|ZFYVE9_uc001ctp.2_Missense_Mutation_p.T265M	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	265					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						ACAAGTTTAACGGTTGATTCA	0.438													T	52703883	C	T	52703883	3	4	158	1	0	0	0	0	1	0	0	0	17668	536	19	1	800	1	ZFYVE9	1	52703883	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	445816	52703883	196546738	102	83883											
FAM159A	348378	broad.mit.edu	37	chr1	53122609	53122609	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtgaactccaaacgccTcctccatcattgcttcatgg	8	14	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:53122609T>C	uc001cuf.2	+	3	570	c.470T>C	c.(469-471)CTC>CCC	p.L157P	FAM159A_uc001cug.1_Intron|FAM159A_uc001cuh.2_Intron	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN	hypothetical protein LOC348378	157						integral to membrane					0						TCCAAACGCCTCCTCCATCAT	0.577													C	53122609	T	C	53122609	3	2	158	1	0	0	0	0	1	0	0	0	5468	1551	54	3	480	3	FAM159A	1	53122609	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	418726	53122609	196128012	103	83884											
GLIS1	148979	broad.mit.edu	37	chr1	53974874	53974874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtctccccgaccagtcCgtccccaccggctgctggtt	12	17	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:53974874C>T	uc001cvr.1	-	9	2191	c.1624G>A	c.(1624-1626)GGA>AGA	p.G542R		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	542					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			skin(1)	1						CCGACCAGTCCGTCCCCACCG	0.647													T	53974874	C	T	53974874	3	4	158	1	0	0	0	0	1	0	0	0	6445	661	23	1	246	1	GLIS1	1	53974874	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	852265	53974874	195275747	104	83885											
YIPF1	54432	broad.mit.edu	37	chr1	54331901	54331901	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccacagaaagcagcatatggAgcaacacaattgtcacaatt	7	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:54331901A>T	uc001cvu.2	-	9	1140	c.803T>A	c.(802-804)CTC>CAC	p.L268H	YIPF1_uc001cvv.2_RNA|YIPF1_uc001cvw.2_RNA|YIPF1_uc001cvx.2_RNA|YIPF1_uc001cvy.2_RNA	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	268	Helical; (Potential).					integral to membrane|transport vesicle				large_intestine(1)|ovary(1)	2						CAGCATATGGAGCAACACAAT	0.448													T	54331901	A	T	54331901	3	4	158	1	0	0	0	0	1	0	0	0	17474	304	11	5	125	5	YIPF1	1	54331901	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	357027	54331901	194918720	105	83886											
FAM151A	338094	broad.mit.edu	37	chr1	55081757	55081758	+	Frame_Shift_Ins	INS	-	-	G													tgttgtcactgtagatagtgINSggggggtgtgccatgatggg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:55081756_55081757T>TG	uc001cxn.3	-	2	483_484	c.351_352A>CA	c.(349-354)cccactfs	p.P117fs	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	117						integral to membrane		p.T118fs*43(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													G	55081758	-	G	55081757	7	5	158	1	0	1	1	0	0	0	0	0	5458	1335	47	0	1430	0	FAM151A	1	55081757	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	749856	55081757	194168864	106	83887											
DOCK7	85440	broad.mit.edu	37	chr1	62979425	62979425	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacacagagataaagcagatCtaatagccggtttagctgca	9	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:62979425C>T	uc001daq.2	-	32	4115	c.4081G>A	c.(4081-4083)GAT>AAT	p.D1361N	DOCK7_uc001dan.2_Missense_Mutation_p.D1222N|DOCK7_uc001dao.2_Missense_Mutation_p.D1222N|DOCK7_uc001dap.2_Missense_Mutation_p.D1330N|DOCK7_uc001dam.2_Missense_Mutation_p.D541N|DOCK7_uc010oov.1_Missense_Mutation_p.D100N	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1361					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						TAAAGCAGATCTAATAGCCGG	0.373													T	62979425	C	T	62979425	3	4	158	1	0	0	0	0	1	0	0	0	4692	913	32	4	2417	4	DOCK7	1	62979425	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	7897668	62979425	186271196	107	83888											
DOCK7	85440	broad.mit.edu	37	chr1	63113940	63113940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagatactacaggcccagCtaccccttggggtatcatct	8	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:63113940C>T	uc001daq.2	-	6	603	c.569G>A	c.(568-570)AGC>AAC	p.S190N	DOCK7_uc001dan.2_Missense_Mutation_p.S82N|DOCK7_uc001dao.2_Missense_Mutation_p.S82N|DOCK7_uc001dap.2_Missense_Mutation_p.S190N|DOCK7_uc009wah.1_Missense_Mutation_p.S190N	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	190					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						ACAGGCCCAGCTACCCCTTGG	0.343													T	63113940	C	T	63113940	3	4	158	1	0	0	0	0	1	0	0	0	4692	797	28	2	5936	2	DOCK7	1	63113940	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	134515	63113940	186136681	108	83889											
CACHD1	57685	broad.mit.edu	37	chr1	64936594	64936594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccagatgcggaggctggCggccgaggagctgggggtcg	22	9	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:64936594C>T	uc001dbo.1	+	1	119	c.14C>T	c.(13-15)GCG>GTG	p.A5V		NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	56	Extracellular (Potential).				calcium ion transport	integral to membrane				ovary(2)	2						CGGAGGCTGGCGGCCGAGGAG	0.682													T	64936594	C	T	64936594	3	4	158	1	0	0	0	0	1	0	0	0	2537	768	27	1	16	1	CACHD1	1	64936594	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1822654	64936594	184314027	109	83890											
MIER1	57708	broad.mit.edu	37	chr1	67428798	67428798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgggctccatgtttcaaGcagaaattccagttggcatt	11	8	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:67428798G>A	uc001dde.2	+	8	861	c.727G>A	c.(727-729)GCA>ACA	p.A243T	MIER1_uc010opf.1_Missense_Mutation_p.A207T|MIER1_uc009way.2_Missense_Mutation_p.A207T|MIER1_uc001ddc.2_Missense_Mutation_p.A243T|MIER1_uc001ddh.2_Missense_Mutation_p.A127T|MIER1_uc001ddf.2_Missense_Mutation_p.A207T|MIER1_uc001ddg.2_Missense_Mutation_p.A163T|MIER1_uc010opg.1_Missense_Mutation_p.A207T|MIER1_uc001ddj.1_Missense_Mutation_p.A190T|MIER1_uc001ddi.2_Missense_Mutation_p.A190T	NM_001077700	NP_001071168	Q8N108	MIER1_HUMAN	mesoderm induction early response 1 isoform b	214	ELM2.|Interaction with HDAC1.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)	1						CATGTTTCAAGCAGAAATTCC	0.313													A	67428798	G	A	67428798	3	1	158	1	0	0	0	0	1	0	0	0	9580	971	34	2	834	2	MIER1	1	67428798	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2492204	67428798	181821823	110	83891											
C1orf141	400757	broad.mit.edu	37	chr1	67592863	67592863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaacctttgttcttctggCcaagattatctctgcttgct	6	11	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:67592863C>T	uc001ddl.1	-	2	172	c.61G>A	c.(61-63)GCC>ACC	p.A21T	C1orf141_uc001ddm.1_Missense_Mutation_p.A21T|C1orf141_uc001ddn.1_RNA	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	hypothetical protein LOC400757	21										ovary(1)	1						GTTCTTCTGGCCAAGATTATC	0.313													T	67592863	C	T	67592863	3	4	158	1	0	0	0	0	1	0	0	0	2001	739	26	2	1165	2	C1orf141	1	67592863	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	164065	67592863	181657758	111	83892											
IL12RB2	3595	broad.mit.edu	37	chr1	67795357	67795357	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttattggagagatgagggacTggtactgcttaatcgactca	12	6	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:67795357T>C	uc001ddu.2	+	6	1392	c.752T>C	c.(751-753)CTG>CCG	p.L251P	IL12RB2_uc010oqi.1_Missense_Mutation_p.L251P|IL12RB2_uc010oqj.1_Missense_Mutation_p.L251P|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.L251P|IL12RB2_uc010oqm.1_Missense_Mutation_p.L251P|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	251	Extracellular (Potential).|Fibronectin type-III 2.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						GATGAGGGACTGGTACTGCTT	0.428													C	67795357	T	C	67795357	3	2	158	1	0	0	0	0	1	0	0	0	7627	1580	55	3	770	3	IL12RB2	1	67795357	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	202494	67795357	181455264	112	83893											
IL12RB2	3595	broad.mit.edu	37	chr1	67795414	67795414	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggctctggaatatggTaattatctttagagtgaagg	12	5	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:67795414T>C	uc001ddu.2	+	6	1447	c.807_splice	c.e6+2	p.M269_splice	IL12RB2_uc010oqi.1_Splice_Site_p.M269_splice|IL12RB2_uc010oqj.1_Splice_Site_p.M269_splice|IL12RB2_uc010oqk.1_Splice_Site|IL12RB2_uc010oql.1_Splice_Site_p.M269_splice|IL12RB2_uc010oqm.1_Splice_Site_p.M269_splice|IL12RB2_uc010oqn.1_Splice_Site	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor						positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						TGGAATATGGTAATTATCTTT	0.398													C	67795414	T	C	67795414	5	2	158	1	0	0	0	0	0	0	1	0	7627	1652	57	3	827	3	IL12RB2	1	67795414	Splice_Site	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	57	67795414	181455207	113	83894											
GNG12	55970	broad.mit.edu	37	chr1	68173335	68173335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagttctccttgcctggGctatattgttggtgcttgct	11	10	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:68173335G>A	uc001dea.1	-	3	227	c.35C>T	c.(34-36)GCC>GTC	p.A12V		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	G-protein gamma-12 subunit precursor	12					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity				0						CCTTGCCTGGGCTATATTGTT	0.388													A	68173335	G	A	68173335	3	1	158	1	0	0	0	0	1	0	0	0	6525	1203	42	2	191	2	GNG12	1	68173335	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	377921	68173335	181077286	114	83895											
DIRAS3	9077	broad.mit.edu	37	chr1	68512564	68512564	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaacttatgcaggttgttAcctttgatcttgcagatcag	11	7	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:68512564A>G	uc001ded.2	-	2	712	c.417T>C	c.(415-417)GGT>GGC	p.G139G	uc001deb.1_Intron|uc001dec.1_Intron	NM_004675	NP_004666	O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	139					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			skin(1)	1						GCAGGTTGTTACCTTTGATCT	0.547													G	68512564	A	G	68512564	2	3	158	1	0	0	0	0	0	0	0	1	4532	378	14	3		3	DIRAS3	1	68512564	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	339229	68512564	180738057	115	83896											
DEPDC1	55635	broad.mit.edu	37	chr1	68948218	68948218	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctggcacatctacaattcCttccaaagaacagcaccttg	5	15	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:68948218C>A	uc001dem.3	-	8	1390	c.1273G>T	c.(1273-1275)GGA>TGA	p.G425*	DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_Intron|DEPDC1_uc001del.3_Intron	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	425					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TCTACAATTCCTTCCAAAGAA	0.358													A	68948218	C	A	68948218	4	1	158	1	0	0	0	0	0	1	0	0	4439	690	24	5	1182	5	DEPDC1	1	68948218	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	435654	68948218	180302403	116	83897											
CRYZ	1429	broad.mit.edu	37	chr1	75188879	75188879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagtatagggtaagagtgGttttctactataagtaccag	12	4	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:75188879G>A	uc001dgk.2	-	4	692	c.187C>T	c.(187-189)CCA>TCA	p.P63S	CRYZ_uc001dgj.2_Missense_Mutation_p.P63S|CRYZ_uc001dgl.2_Missense_Mutation_p.P63S|CRYZ_uc001dgm.2_5'UTR	NM_001130042	NP_001123514	Q08257	QOR_HUMAN	crystallin, zeta isoform a	63					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding				0					Dicumarol(DB00266)	GGTAAGAGTGGTTTTCTACTA	0.413													A	75188879	G	A	75188879	3	1	158	1	0	0	0	0	1	0	0	0	3922	1261	44	4	830	4	CRYZ	1	75188879	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	6240661	75188879	174061742	117	83898											
RABGGTB	5876	broad.mit.edu	37	chr1	76259894	76259894	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagatgaagaaacggggggAtttgcagacaggccaggaga	16	6	0	5			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:76259894A>G	uc001dgy.1	+	8	902	c.831A>G	c.(829-831)GGA>GGG	p.G277G	MSH4_uc001dhd.1_5'Flank|RABGGTB_uc009wbt.1_RNA|RABGGTB_uc001dha.1_Silent_p.G231G|RABGGTB_uc001dhc.1_RNA	NM_004582	NP_004573	P53611	PGTB2_HUMAN	RAB geranylgeranyltransferase, beta subunit	277	PFTB 6.				protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			ovary(1)	1						AAACGGGGGGATTTGCAGACA	0.393													G	76259894	A	G	76259894	2	3	158	1	0	0	0	0	0	0	0	1	12968	320	12	3		3	RABGGTB	1	76259894	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1071015	76259894	172990727	118	83899											
USP33	23032	broad.mit.edu	37	chr1	78178969	78178969	+	Splice_Site	DEL	A	A	-													cttttcttggaggaacacctAaaaaaatatataaacatatc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:78178968_78178968TA>T	uc001dht.3	-	21	2656	c.2309_splice	c.e21-1	p.G770_splice	USP33_uc001dhs.3_Splice_Site_p.G491_splice|USP33_uc001dhu.3_Splice_Site_p.G739_splice|USP33_uc001dhv.3_Splice_Site_p.G575_splice|USP33_uc001dhw.3_Splice_Site_p.G762_splice	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	770	DUSP 1.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GAGGAACACCTAAAAAAATAT	0.289													-	78178969	A	-	78178969	8	5	158	1	0	1	0	1	0	0	1	0	17061	377	13	0		0	USP33	1	78178969	Splice_Site	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	1919075	78178969	171071652	119	83900											
ZNHIT6	54680	broad.mit.edu	37	chr1	86173881	86173881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtcccttactccctccctGccaggctctggacttagccg	8	17	1	0	rs147426974		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:86173881G>A	uc001dlh.2	-	1	221	c.87C>T	c.(85-87)GGC>GGT	p.G29G	ZNHIT6_uc010osc.1_Silent_p.G29G	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	zinc finger, HIT type 6	29					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			large_intestine(1)	1						CTCCCTCCCTGCCAGGCTCTG	0.597													A	86173881	G	A	86173881	2	1	158	1	0	0	0	0	0	0	0	1	18206	1306	46	2		2	ZNHIT6	1	86173881	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	7994912	86173881	163076740	120	83901											
COL24A1	255631	broad.mit.edu	37	chr1	86203186	86203186	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgggtcaatccagtattTtcctaataatttatagtaaa	5	5	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:86203186T>G	uc001dlj.2	-	58	4717	c.4675A>C	c.(4675-4677)AAA>CAA	p.K1559Q	COL24A1_uc001dli.2_Missense_Mutation_p.K674Q|COL24A1_uc010osd.1_Missense_Mutation_p.K859Q|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_Intron	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1559	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATCCAGTATTTTCCTAATAAT	0.284													G	86203186	T	G	86203186	3	3	158	1	0	0	0	0	1	0	0	0	3683	1850	64	5	481	5	COL24A1	1	86203186	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	29305	86203186	163047435	121	83902											
COL24A1	255631	broad.mit.edu	37	chr1	86554876	86554876	+	Frame_Shift_Del	DEL	G	G	-													ccttatcaccttgcataccaGgggggcccattaatccagaa							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:86554875_86554875AG>A	uc001dlj.3	-	6	1764	c.1689_1689CT>T	c.(1687-1689)cctfs	p.P563fs	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Frame_Shift_Del_p.P563fs	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	563	Collagen-like 2.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTTGCATACCAGGGGGGCCCA	0.333													-	86554876	G	-	86554876	7	5	158	1	0	1	0	1	0	0	0	0	3683	1000	35	0	3672	0	COL24A1	1	86554876	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	351690	86554876	162695745	122	83903											
CLCA2	9635	broad.mit.edu	37	chr1	86920993	86920993	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatacgagcaatggataggaActccttacagtctgctgtat	9	8	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:86920993A>G	uc001dlr.3	+	14	2777	c.2615A>G	c.(2614-2616)AAC>AGC	p.N872S		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	872	Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)|skin(1)	3		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ATGGATAGGAACTCCTTACAG	0.433													G	86920993	A	G	86920993	3	3	158	1	0	0	0	0	1	0	0	0	3458	43	2	3	2669	3	CLCA2	1	86920993	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	366117	86920993	162329628	123	83904											
EVI5	7813	broad.mit.edu	37	chr1	93159366	93159367	+	Frame_Shift_Ins	INS	-	-	T													taaaatacttactttttcatINStttttttgaattgtatttga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:93159365_93159366A>AT	uc010otf.2	-	8	1232_1233	c.1222_1223T>AT	c.(1222-1224)atgfs	p.M408fs	EVI5_uc001dox.3_Frame_Shift_Ins_p.M408fs|EVI5_uc001doy.1_Non-coding_Transcript	NM_005665	NP_005656	O60447	EVI5_HUMAN	Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA.	408	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	Rab GTPase activator activity|protein binding	p.K407T(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TTACTTTTTCATTTTTTTTGAA	0.317													T	93159367	-	T	93159366	7	5	158	1	0	1	1	0	0	0	0	0	5289	1493	52	0	1250	0	EVI5	1	93159366	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	6238373	93159366	156091255	124	83905											
DNTTIP2	30836	broad.mit.edu	37	chr1	94342778	94342778	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtttgtctggtatctgaaTcctctgaattcacaggtgta	9	7	4	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:94342778T>C	uc001dqf.2	-	2	751	c.713A>G	c.(712-714)GAT>GGT	p.D238G	DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Missense_Mutation_p.D33G	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal,	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		GGTATCTGAATCCTCTGAATT	0.358													C	94342778	T	C	94342778	3	2	158	1	0	0	0	0	1	0	0	0	4682	1435	50	3	1581	3	DNTTIP2	1	94342778	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1183412	94342778	154907843	125	83906											
SLC44A3	126969	broad.mit.edu	37	chr1	95290148	95290148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcaagaagaactcccccGtggaaggggcccctctttca	12	13	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:95290148G>A	uc001dqv.3	+	3	342	c.235G>A	c.(235-237)GTG>ATG	p.V79M	SLC44A3_uc001dqx.3_Missense_Mutation_p.V79M|SLC44A3_uc010otq.1_Missense_Mutation_p.V43M|SLC44A3_uc010otr.1_Missense_Mutation_p.V43M|SLC44A3_uc001dqw.3_Missense_Mutation_p.V31M|SLC44A3_uc010ots.1_Missense_Mutation_p.V31M|SLC44A3_uc009wds.2_Translation_Start_Site|SLC44A3_uc010ott.1_Missense_Mutation_p.V31M|SLC44A3_uc010otu.1_5'Flank	NM_001114106	NP_001107578	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3 isoform 1	79						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)	1		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GAACTCCCCCGTGGAAGGGGC	0.498													A	95290148	G	A	95290148	3	1	158	1	0	0	0	0	1	0	0	0	14637	1145	40	1	245	1	SLC44A3	1	95290148	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	947370	95290148	153960473	126	83907											
CNN3	1266	broad.mit.edu	37	chr1	95363514	95363514	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgcccaagcccatacacactCattcctttctgggaagcaac	6	16	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:95363514C>A	uc010otw.1	-	8	856	c.774G>T	c.(772-774)ATG>ATT	p.M258I	CNN3_uc010otv.1_Missense_Mutation_p.M217I|CNN3_uc001dqz.3_Missense_Mutation_p.M258I|CNN3_uc010otx.1_Missense_Mutation_p.M212I	NM_001839	NP_001830	Q15417	CNN3_HUMAN	calponin 3	258	Calponin-like 3.				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding				0		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		CATACACACTCATTCCTTTCT	0.463													A	95363514	C	A	95363514	3	1	158	1	0	0	0	0	1	0	0	0	3611	826	29	5	219	5	CNN3	1	95363514	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	73366	95363514	153887107	127	83908											
LPPR4	9890	broad.mit.edu	37	chr1	99764768	99764768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctcaggatctgacctcaCagttatcaacagtggcaggt	10	10	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:99764768C>T	uc001dse.2	+	4	822	c.716C>T	c.(715-717)ACA>ATA	p.T239I	LPPR4_uc010oue.1_Missense_Mutation_p.T239I	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	239							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCTGACCTCACAGTTATCAAC	0.378													T	99764768	C	T	99764768	3	4	158	1	0	0	0	0	1	0	0	0	8927	478	17	4	730	4	LPPR4	1	99764768	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	4401254	99764768	149485853	128	83909											
GPR88	54112	broad.mit.edu	37	chr1	101005242	101005244	+	In_Frame_Del	DEL	CGC	CGC	-													ctgcaccagttgcccggctgCgccgccgccgccgccgcctt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:101005242_101005244delCGC	uc001dth.2	+	2	1124_1126	c.720_722delCGC	c.(718-723)TGCGCC>TGC	p.A246del		NM_022049	NP_071332	Q9GZN0	GPR88_HUMAN	G-protein coupled receptor 88	246	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		Tgcccggctgcgccgccgccgcc	0.286													-	101005244	CGC	-	101005242	7	5	158	1	0	1	0	1	0	0	0	0	6717	776	27	0	722	0	GPR88	1	101005242	In_Frame_Del	DEL	CGC	TCGA-CD-A4MG-01A-11D-A25D-08	1240474	101005242	148245379	129	83910											
OLFM3	118427	broad.mit.edu	37	chr1	102269822	102269822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcctctgtcttgatgataTggaaaagggtgacattgaac	10	7	2	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:102269822T>C	uc001duf.2	-	6	1480	c.1409A>G	c.(1408-1410)CAT>CGT	p.H470R	OLFM3_uc001dug.2_Missense_Mutation_p.H450R|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.H375R|OLFM3_uc001due.2_RNA	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	470	Olfactomedin-like.					extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CTTGATGATATGGAAAAGGGT	0.403													C	102269822	T	C	102269822	3	2	158	1	0	0	0	0	1	0	0	0	10854	1464	51	3	31	3	OLFM3	1	102269822	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1264580	102269822	146980799	130	83911											
COL11A1	1301	broad.mit.edu	37	chr1	103427801	103427801	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtccatctttccctgagatAccttgaggacctggatcacc	9	13	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:103427801A>G	uc001dul.2	-	40	3363	c.3045T>C	c.(3043-3045)GGT>GGC	p.G1015G	COL11A1_uc001duk.2_Silent_p.G211G|COL11A1_uc001dum.2_Silent_p.G1027G|COL11A1_uc001dun.2_Silent_p.G976G|COL11A1_uc009weh.2_Silent_p.G899G	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1015	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCCTGAGATACCTTGAGGAC	0.383													G	103427801	A	G	103427801	2	3	158	1	0	0	0	0	0	0	0	1	3667	378	14	3		3	COL11A1	1	103427801	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1157979	103427801	145822820	131	83912											
SORT1	6272	broad.mit.edu	37	chr1	109897121	109897121	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagattcttcctccacgActtcctccagacacctctgc	4	17	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:109897121A>G	uc001dxm.1	-	5	625	c.576T>C	c.(574-576)AGT>AGC	p.S192S	SORT1_uc010ovi.1_Silent_p.S56S|SORT1_uc009wfb.2_Silent_p.S56S	NM_002959	NP_002950	Q99523	SORT_HUMAN	sortilin 1 preproprotein	192	Extracellular (Potential).				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			ovary(1)	1		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TTCCTCCACGACTTCCTCCAG	0.428													G	109897121	A	G	109897121	2	3	158	1	0	0	0	0	0	0	0	1	14935	272	10	3		3	SORT1	1	109897121	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	6469320	109897121	139353500	132	83913											
AMPD2	271	broad.mit.edu	37	chr1	110172534	110172534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccacgggctccttctgcGcaaggtcaggatctgcaccc	10	16	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:110172534G>A	uc009wfh.1	+	16	2683	c.2141G>A	c.(2140-2142)CGC>CAC	p.R714H	AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Missense_Mutation_p.R633H|AMPD2_uc001dyc.1_Missense_Mutation_p.R714H|AMPD2_uc010ovr.1_Missense_Mutation_p.R639H|AMPD2_uc001dyd.1_Missense_Mutation_p.R595H|AMPD2_uc001dye.1_Intron	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2 (isoform L)	714					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|breast(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTCCTTCTGCGCAAGGTCAGG	0.607													A	110172534	G	A	110172534	3	1	158	1	0	0	0	0	1	0	0	0	586	1087	38	1	2240	1	AMPD2	1	110172534	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	275413	110172534	139078087	133	83914											
KCNC4	3749	broad.mit.edu	37	chr1	110754481	110754481	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgcactgccccgcggaCgtgtgcgggccgctcttcga	14	15	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:110754481C>T	uc001dzh.2	+	1	417	c.360C>T	c.(358-360)GAC>GAT	p.D120D	KCNC4_uc001dzf.2_Silent_p.D120D|KCNC4_uc009wfr.2_Silent_p.D120D|KCNC4_uc001dzg.2_Silent_p.D120D|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	120	Cytoplasmic (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCCCGCGGACGTGTGCGGGC	0.592													T	110754481	C	T	110754481	2	4	158	1	0	0	0	0	0	0	0	1	8017	535	19	1		1	KCNC4	1	110754481	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	581947	110754481	138496140	134	83915											
WNT2B	7482	broad.mit.edu	37	chr1	113058867	113058867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgtgtgcagctgtgaccCctacacccgtggccgacacc	12	15	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:113058867C>T	uc001ecb.2	+	3	1024	c.509C>T	c.(508-510)CCC>CTC	p.P170L	WNT2B_uc001eca.2_Missense_Mutation_p.P151L|WNT2B_uc009wgg.2_Missense_Mutation_p.P78L	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family,	170					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			ovary(2)|breast(2)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCTGTGACCCCTACACCCGT	0.577													T	113058867	C	T	113058867	3	4	158	1	0	0	0	0	1	0	0	0	17384	623	22	4	652	4	WNT2B	1	113058867	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2304386	113058867	136191754	135	83916											
PHTF1	10745	broad.mit.edu	37	chr1	114267508	114267508	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaccatttacagtttttcGtaattttctacaaaaaaaaa	2	7	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:114267508G>A	uc009wgp.1	-	6	948	c.496C>T	c.(496-498)CGA>TGA	p.R166*	PHTF1_uc001edn.2_Nonsense_Mutation_p.R166*|PHTF1_uc010own.1_Nonsense_Mutation_p.R166*	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	166						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGTTTTTCGTAATTTTCTA	0.323													A	114267508	G	A	114267508	4	1	158	1	0	0	0	0	0	1	0	0	11862	1153	40	1	1844	1	PHTF1	1	114267508	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1208641	114267508	134983113	136	83917											
BCL2L15	440603	broad.mit.edu	37	chr1	114424449	114424449	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttggttcccattgatcatAcccgtcatggggatagccac	10	12	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:114424449A>G	uc001edw.2	-	3	592	c.420T>C	c.(418-420)GGT>GGC	p.G140G	uc001edv.1_Intron|BCL2L15_uc001edx.2_Intron|BCL2L15_uc001edy.2_Intron|BCL2L15_uc001edz.1_RNA	NM_001010922	NP_001010922	Q5TBC7	B2L15_HUMAN	pro-apoptotic Bcl-2 protein	140					apoptosis					ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATTGATCATACCCGTCATGG	0.502													G	114424449	A	G	114424449	2	3	158	1	0	0	0	0	0	0	0	1	1373	378	14	3		3	BCL2L15	1	114424449	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	156941	114424449	134826172	137	83918											
HIPK1	204851	broad.mit.edu	37	chr1	114497345	114497345	+	Frame_Shift_Del	DEL	T	T	-													ccggaacaaaaacaaccaggTttttcaacagagatcctaat							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:114497345delT	uc001eem.2	+	4	1434	c.1273delT	c.(1273-1275)TTTfs	p.F425fs	HIPK1_uc001eel.2_Frame_Shift_Del_p.F425fs|HIPK1_uc001een.2_Frame_Shift_Del_p.F425fs|HIPK1_uc001eeo.2_Frame_Shift_Del_p.F51fs|HIPK1_uc001eep.2_Frame_Shift_Del_p.F31fs	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	425	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACAACCAGGTTTTTCAACAG	0.448													-	114497345	T	-	114497345	7	5	158	1	0	1	0	1	0	0	0	0	7116	1725	60	0	1301	0	HIPK1	1	114497345	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	72896	114497345	134753276	138	83919											
TRIM33	51592	broad.mit.edu	37	chr1	114948108	114948110	+	In_Frame_Del	DEL	CTC	CTC	-													tttttcgcagcacaagagatCtcctccgttttggcagacag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:114948108_114948110delCTC	uc001eew.2	-	15	2774_2776	c.2690_2692delGAG	c.(2689-2694)GGAGAT>GAT	p.G897del	TRIM33_uc010owr.1_In_Frame_Del_p.G511del|TRIM33_uc010ows.1_In_Frame_Del_p.G529del|TRIM33_uc001eex.2_In_Frame_Del_p.G897del|TRIM33_uc001eey.1_In_Frame_Del_p.G92del	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	897	PHD-type.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACAAGAGATCTCCTCCGTTTTG	0.429			T	RET	papillary thyroid								-	114948110	CTC	-	114948108	7	5	158	1	0	1	0	1	0	0	0	0	16504	913	32	0	715	0	TRIM33	1	114948108	In_Frame_Del	DEL	CTC	TCGA-CD-A4MG-01A-11D-A25D-08	450763	114948108	134302513	139	83920											
CD58	965	broad.mit.edu	37	chr1	117064526	117064526	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgttttaaaaagcatacatAccattcatatacagcacaat	3	8	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:117064526A>G	uc001egm.2	-	4	827	c.706_splice	c.e4+1	p.G236_splice	CD58_uc001egn.2_Splice_Site|CD58_uc010owy.1_Splice_Site_p.G236_splice|CD58_uc001ego.1_Splice_Site|CD58_uc001egp.3_Silent_p.G236G	NM_001779	NP_001770	P19256	LFA3_HUMAN	CD58 molecule isoform 1						blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding				0	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		AAGCATACATACCATTCATAT	0.279													G	117064526	A	G	117064526	5	3	158	1	0	0	0	0	0	0	1	0	3025	405	14	3	60	3	CD58	1	117064526	Splice_Site	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	2116418	117064526	132186095	140	83921											
CD2	914	broad.mit.edu	37	chr1	117307144	117307144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcatcattggcatatgtGgaggaggcagcctcttgatg	12	8	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:117307144G>A	uc001egu.3	+	4	681	c.652G>A	c.(652-654)GGA>AGA	p.G218R	CD2_uc010owz.1_Missense_Mutation_p.G218R|CD2_uc010oxa.1_Silent_p.V160V	NM_001767	NP_001758	P06729	CD2_HUMAN	CD2 molecule precursor	218	Helical; (Potential).				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			breast(1)	1	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	TGGCATATGTGGAGGAGGCAG	0.498													A	117307144	G	A	117307144	3	1	158	1	0	0	0	0	1	0	0	0	2979	1349	47	4	666	4	CD2	1	117307144	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	242618	117307144	131943477	141	83922											
WDR3	10885	broad.mit.edu	37	chr1	118475968	118475968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaccaagcagtacctacGctatgttgctagtgcggtct	10	12	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:118475968G>A	uc010oxe.1	+	2	92	c.26G>A	c.(25-27)CGC>CAC	p.R9H	WDR3_uc001ehi.2_RNA|WDR3_uc001ehh.2_5'UTR	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	9						nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CAGTACCTACGCTATGTTGCT	0.468													A	118475968	G	A	118475968	3	1	158	1	0	0	0	0	1	0	0	0	17282	1087	38	1	28	1	WDR3	1	118475968	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1168824	118475968	130774653	142	83923											
NOTCH2	4853	broad.mit.edu	37	chr1	120462204	120462204	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatctgagctgcctcctcGgagagaagccaacatcaatg	9	12	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:120462204G>A	uc001eik.2	-	31	5768	c.5512C>T	c.(5512-5514)CGA>TGA	p.R1838*		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1838	Cytoplasmic (Potential).|ANK 1.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCCTCCTCGGAGAGAAGCC	0.478			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				A	120462204	G	A	120462204	4	1	158	1	0	0	0	0	0	1	0	0	10548	1124	39	1	1919	1	NOTCH2	1	120462204	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1986236	120462204	128788417	143	83924											
PDE4DIP	9659	broad.mit.edu	37	chr1	145075825	145075825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcagcagccaaagtcgcatCggcggcggcagcaggacccg	15	14	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:145075825C>T	uc001emh.2	-	1	255	c.38G>A	c.(37-39)CGA>CAA	p.R13Q	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Missense_Mutation_p.R13Q|PDE4DIP_uc001emk.2_Missense_Mutation_p.R13Q	NM_022359	NP_071754	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	Error:Variant_position_missing_in_Q5VU43_after_alignment					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAAGTCGCATCGGCGGCGGCA	0.662			T	PDGFRB	MPD								T	145075825	C	T	145075825	3	4	158	1	0	0	0	0	1	0	0	0	11643	884	31	1	8774	1	PDE4DIP	1	145075825	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	24613621	145075825	104174796	144	83925											
ANKRD34A	284615	broad.mit.edu	37	chr1	145473843	145473843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggggtggaggaccctgCtcccgcctctcctagcccgg	13	18	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:145473843C>T	uc001enq.1	+	4	1808	c.515C>T	c.(514-516)GCT>GTT	p.A172V	NBPF10_uc001emp.3_Intron	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	172											0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGGACCCTGCTCCCGCCTCT	0.627													T	145473843	C	T	145473843	3	4	158	1	0	0	0	0	1	0	0	0	662	797	28	2	517	2	ANKRD34A	1	145473843	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	398018	145473843	103776778	145	83926											
PEX11B	8799	broad.mit.edu	37	chr1	145522811	145522811	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcattcctctggacaaActaggcctctggcgctgtgg	10	13	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:145522811A>G	uc001eny.1	+	4	690	c.672A>G	c.(670-672)AAA>AAG	p.K224K	NBPF10_uc001emp.3_Intron|PEX11B_uc010oyu.1_Silent_p.K210K|ITGA10_uc001enz.1_5'Flank|ITGA10_uc001eoa.2_5'Flank|ITGA10_uc010oyv.1_5'Flank|ITGA10_uc009wiw.2_5'Flank	NM_003846	NP_003837	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	224	Interaction with PEX19 and peroxisome targeting.				peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding				0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTCTGGACAAACTAGGCCTCT	0.557													G	145522811	A	G	145522811	2	3	158	1	0	0	0	0	0	0	0	1	11738	40	2	3		3	PEX11B	1	145522811	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	48968	145522811	103727810	146	83927											
BCL9	607	broad.mit.edu	37	chr1	147091072	147091072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactctcagagatatccagCgcatgctttttcctgatgag	8	10	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:147091072C>T	uc001epq.2	+	8	1851	c.1111C>T	c.(1111-1113)CGC>TGC	p.R371C	BCL9_uc010ozr.1_Missense_Mutation_p.R297C	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	371	CTNNB1-binding.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					AGATATCCAGCGCATGCTTTT	0.547			T	IGH@|IGL@	B-ALL								T	147091072	C	T	147091072	3	4	158	1	0	0	0	0	1	0	0	0	1381	768	27	1	1129	1	BCL9	1	147091072	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1568261	147091072	102159549	147	83928											
BCL9	607	broad.mit.edu	37	chr1	147094164	147094164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttataccatgcctccagagCcaaccctttcccagaaccca	4	18	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:147094164C>T	uc001epq.2	+	9	3735	c.2995C>T	c.(2995-2997)CCA>TCA	p.P999S	BCL9_uc010ozr.1_Missense_Mutation_p.P925S	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	999	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					GCCTCCAGAGCCAACCCTTTC	0.512			T	IGH@|IGL@	B-ALL								T	147094164	C	T	147094164	3	4	158	1	0	0	0	0	1	0	0	0	1381	739	26	2	3017	2	BCL9	1	147094164	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	3092	147094164	102156457	148	83929											
BCL9	607	broad.mit.edu	37	chr1	147094247	147094247	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttccaccccgttataccaTgatgctatcaagactgtggc	8	12	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:147094247T>C	uc001epq.2	+	9	3818	c.3078T>C	c.(3076-3078)CAT>CAC	p.H1026H	BCL9_uc010ozr.1_Silent_p.H952H	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1026	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					CGTTATACCATGATGCTATCA	0.478			T	IGH@|IGL@	B-ALL								C	147094247	T	C	147094247	2	2	158	1	0	0	0	0	0	0	0	1	1381	1461	51	3		3	BCL9	1	147094247	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	83	147094247	102156374	149	83930											
TARS2	80222	broad.mit.edu	37	chr1	150477205	150477205	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcagaaagctgcggggggAaatggtgagacctctgacct	16	8	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:150477205A>G	uc001euq.2	+	15	1823	c.1816A>G	c.(1816-1818)AAA>GAA	p.K606E	TARS2_uc001eur.2_Missense_Mutation_p.K524E|TARS2_uc009wlt.2_Missense_Mutation_p.K232E|TARS2_uc009wls.2_Missense_Mutation_p.K476E	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	606					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CTGCGGGGGGAAATGGTGAGA	0.567													G	150477205	A	G	150477205	3	3	158	1	0	0	0	0	1	0	0	0	15557	247	9	3	1874	3	TARS2	1	150477205	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	3382958	150477205	98773416	150	83931											
ARNT	405	broad.mit.edu	37	chr1	150789854	150789854	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctgggaatgattgtagcTggccagtccatctcttcctg	10	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:150789854T>C	uc001evr.1	-	16	1704	c.1561A>G	c.(1561-1563)AGC>GGC	p.S521G	ARNT_uc010pck.1_Missense_Mutation_p.S10G|ARNT_uc001evs.1_Missense_Mutation_p.S506G|ARNT_uc009wmb.1_Missense_Mutation_p.S507G|ARNT_uc009wmc.1_Missense_Mutation_p.S521G|ARNT_uc009wmd.1_Missense_Mutation_p.S506G	NM_001668	NP_001659	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	521					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			skin(4)|lung(3)|central_nervous_system(1)|kidney(1)	9	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGATTGTAGCTGGCCAGTCCA	0.423			T	ETV6	AML								C	150789854	T	C	150789854	3	2	158	1	0	0	0	0	1	0	0	0	965	1580	55	3	836	3	ARNT	1	150789854	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	312649	150789854	98460767	151	83932											
SETDB1	9869	broad.mit.edu	37	chr1	150933321	150933321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcggagctatgctacccGgaggcagacccggggccaga	17	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:150933321G>A	uc001evu.2	+	16	2973	c.2783G>A	c.(2782-2784)CGG>CAG	p.R928Q	SETDB1_uc001evv.2_Missense_Mutation_p.R928Q|SETDB1_uc009wmg.1_Missense_Mutation_p.R928Q	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	928	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATGCTACCCGGAGGCAGACC	0.542													A	150933321	G	A	150933321	3	1	158	1	0	0	0	0	1	0	0	0	14138	1116	39	1	2841	1	SETDB1	1	150933321	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	143467	150933321	98317300	152	83933											
FAM63A	55793	broad.mit.edu	37	chr1	150970742	150970742	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagtgaccagtaggtatAagtgactctacaaagaaaag	11	6	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:150970742A>G	uc001ewf.2	-	9	2673	c.989T>C	c.(988-990)TTA>TCA	p.L330S	FAM63A_uc001ewc.2_Missense_Mutation_p.L188S|FAM63A_uc010pcm.1_Missense_Mutation_p.L235S|FAM63A_uc001ewd.2_Missense_Mutation_p.L188S|FAM63A_uc001ewe.2_Missense_Mutation_p.L164S|FAM63A_uc010pcn.1_Missense_Mutation_p.L378S|FAM63A_uc001ewg.2_Missense_Mutation_p.L330S	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	hypothetical protein LOC55793 isoform 1	330							protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGTAGGTATAAGTGACTCTA	0.483													G	150970742	A	G	150970742	3	3	158	1	0	0	0	0	1	0	0	0	5596	372	13	3	432	3	FAM63A	1	150970742	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	37421	150970742	98279879	153	83934											
FAM63A	55793	broad.mit.edu	37	chr1	150973770	150973770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgacttctcctggggctTgatggacaggaggcagtttc	13	10	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:150973770T>C	uc001ewf.2	-	5	2216	c.532A>G	c.(532-534)AAG>GAG	p.K178E	FAM63A_uc001ewc.2_Missense_Mutation_p.K36E|FAM63A_uc010pcm.1_Missense_Mutation_p.K83E|FAM63A_uc001ewd.2_Missense_Mutation_p.K36E|FAM63A_uc001ewe.2_Missense_Mutation_p.K12E|FAM63A_uc010pcn.1_Missense_Mutation_p.K226E|FAM63A_uc001ewg.2_Missense_Mutation_p.K178E	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	hypothetical protein LOC55793 isoform 1	178							protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCTGGGGCTTGATGGACAGG	0.512													C	150973770	T	C	150973770	3	2	158	1	0	0	0	0	1	0	0	0	5596	1821	63	3	905	3	FAM63A	1	150973770	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	3028	150973770	98276851	154	83935											
ZNF687	57592	broad.mit.edu	37	chr1	151259208	151259208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctcctcccagtgggggCacctggaaagaaaaaggcat	12	12	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:151259208C>T	uc001exq.2	+	2	539	c.441C>T	c.(439-441)GGC>GGT	p.G147G	ZNF687_uc001exp.1_Silent_p.G156G|ZNF687_uc009wmo.2_Silent_p.G147G|ZNF687_uc009wmp.2_Silent_p.G147G	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	147	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGTGGGGGCACCTGGAAAG	0.582													T	151259208	C	T	151259208	2	4	158	1	0	0	0	0	0	0	0	1	18089	697	25	2		2	ZNF687	1	151259208	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	285438	151259208	97991413	155	83936											
PI4KB	5298	broad.mit.edu	37	chr1	151278691	151278691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcacagtgctgaagctgCcagctcgctgctcatgggta	14	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:151278691C>T	uc001ext.2	-	5	1746	c.1331G>A	c.(1330-1332)GGC>GAC	p.G444D	PI4KB_uc001exr.2_Missense_Mutation_p.G456D|PI4KB_uc001exs.2_Missense_Mutation_p.G429D|PI4KB_uc001exu.2_Missense_Mutation_p.G429D|PI4KB_uc010pcw.1_Missense_Mutation_p.G112D	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	catalytic phosphatidylinositol 4-kinase beta	444					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			ovary(2)|skin(2)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGAAGCTGCCAGCTCGCTG	0.572													T	151278691	C	T	151278691	3	4	158	1	0	0	0	0	1	0	0	0	11874	739	26	2	1151	2	PI4KB	1	151278691	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	19483	151278691	97971930	156	83937											
POGZ	23126	broad.mit.edu	37	chr1	151378465	151378465	+	Frame_Shift_Del	DEL	C	C	-													atatttgccctctagattctCcccctgggaggcctggaaac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:151378464_151378464TC>T	uc001eyd.2	-	18	3362	c.3047_3047GA>A	c.(3046-3048)gagfs	p.E1016fs	POGZ_uc021oyq.1_Frame_Shift_Del_p.E963fs|POGZ_uc010pdb.2_Frame_Shift_Del_p.E1007fs|POGZ_uc010pdc.2_Frame_Shift_Del_p.E954fs|POGZ_uc009wmv.2_Frame_Shift_Del_p.E921fs|POGZ_uc001eyf.2_Frame_Shift_Del_p.E972fs|POGZ_uc010pdd.2_Frame_Shift_Del_p.E507fs	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	1016	HTH CENPB-type.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTCTAGATTCTCCCCCTGGGA	0.527													-	151378465	C	-	151378465	7	5	158	1	0	1	0	1	0	0	0	0	12186	864	30	0	1190	0	POGZ	1	151378465	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	99774	151378465	97872156	157	83938											
TDRKH	11022	broad.mit.edu	37	chr1	151748697	151748697	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccaggaaccatttgtaggTaaaggtgctgctacaatgtc	10	8	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:151748697T>C	uc009wnb.1	-	8	1274	c.1092A>G	c.(1090-1092)TTA>TTG	p.L364L	TDRKH_uc001eyy.2_Silent_p.L140L|TDRKH_uc001ezb.3_Silent_p.L360L|TDRKH_uc001ezc.3_Silent_p.L319L|TDRKH_uc001eza.3_Silent_p.L364L|TDRKH_uc001ezd.3_Silent_p.L364L|TDRKH_uc010pdn.1_Silent_p.L140L	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing isoform a	364	Tudor.						RNA binding			ovary(1)|pancreas(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CATTTGTAGGTAAAGGTGCTG	0.488													C	151748697	T	C	151748697	2	2	158	1	0	0	0	0	0	0	0	1	15734	1635	57	3		3	TDRKH	1	151748697	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	370232	151748697	97501924	158	83939											
TCHH	7062	broad.mit.edu	37	chr1	152084132	152084132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcttcctcctcctggcGcttcagccgctgctcgcgcc	8	21	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152084132G>A	uc001ezp.2	-	2	1561	c.1561C>T	c.(1561-1563)CGC>TGC	p.R521C	TCHH_uc009wne.1_Missense_Mutation_p.R521C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	521	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCCTGGCGCTTCAGCCGC	0.652													A	152084132	G	A	152084132	3	1	158	1	0	0	0	0	1	0	0	0	15697	1087	38	1	4274	1	TCHH	1	152084132	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	335435	152084132	97166489	159	83940											
RPTN	126638	broad.mit.edu	37	chr1	152128685	152128685	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggtcttgtctgtccgtcTgaccgtagtgggaactctgg	13	10	5	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152128685T>C	uc001ezs.1	-	3	955	c.890A>G	c.(889-891)CAG>CGG	p.Q297R		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	297	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0						TCTGTCCGTCTGACCGTAGTG	0.512													C	152128685	T	C	152128685	3	2	158	1	0	0	0	0	1	0	0	0	13664	1580	55	3	1468	3	RPTN	1	152128685	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	44553	152128685	97121936	160	83941											
HRNR	388697	broad.mit.edu	37	chr1	152191418	152191418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgccctgacccagacccaCgctggccgtggcctggagac	12	17	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152191418C>T	uc001ezt.1	-	3	2763	c.2687G>A	c.(2686-2688)CGT>CAT	p.R896H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	896	10.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCAGACCCACGCTGGCCGTG	0.647													T	152191418	C	T	152191418	3	4	158	1	0	0	0	0	1	0	0	0	7359	536	19	1	5869	1	HRNR	1	152191418	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	62733	152191418	97059203	161	83942											
HRNR	388697	broad.mit.edu	37	chr1	152193216	152193216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatccagacccttgtcggcCgtggcccaaagactgacggg	13	13	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152193216C>T	uc001ezt.1	-	3	965	c.889G>A	c.(889-891)GGC>AGC	p.G297S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	297	3.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTGTCGGCCGTGGCCCAAA	0.607													T	152193216	C	T	152193216	3	4	158	1	0	0	0	0	1	0	0	0	7359	652	23	1	7667	1	HRNR	1	152193216	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1798	152193216	97057405	162	83943											
HRNR	388697	broad.mit.edu	37	chr1	152193811	152193811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcatctctcagctttgaCcctgaaacttggcagtaatc	8	11	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152193811C>T	uc001ezt.1	-	3	370	c.294G>A	c.(292-294)GGG>GGA	p.G98G		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	98	1.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAGCTTTGACCCTGAAACTT	0.388													T	152193811	C	T	152193811	2	4	158	1	0	0	0	0	0	0	0	1	7359	494	18	4		4	HRNR	1	152193811	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	595	152193811	97056810	163	83944											
FLG	2312	broad.mit.edu	37	chr1	152284603	152284603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagtgtctagagatgtcgGcatgagaggaagcttcatgg	16	5	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152284603G>A	uc001ezu.1	-	3	2795	c.2759C>T	c.(2758-2760)GCC>GTC	p.A920V	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	920	Ser-rich.|Filaggrin 5.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGATGTCGGCATGAGAGGA	0.552									Ichthyosis				A	152284603	G	A	152284603	3	1	158	1	0	0	0	0	1	0	0	0	5922	1203	42	2	9430	2	FLG	1	152284603	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	90792	152284603	96966018	164	83945											
FLG	2312	broad.mit.edu	37	chr1	152285135	152285135	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcagtggcctgactaccacTggaccctcggtgtccactgt	11	14	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152285135T>C	uc001ezu.1	-	3	2263	c.2227A>G	c.(2227-2229)AGT>GGT	p.S743G	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	743	Filaggrin 4.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTACCACTGGACCCTCGG	0.582									Ichthyosis				C	152285135	T	C	152285135	3	2	158	1	0	0	0	0	1	0	0	0	5922	1580	55	3	9962	3	FLG	1	152285135	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	532	152285135	96965486	165	83946											
FLG	2312	broad.mit.edu	37	chr1	152285248	152285248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcgggatccatgtctttctCctgcacttgatcttgcctgt	10	12	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152285248C>T	uc001ezu.1	-	3	2150	c.2114G>A	c.(2113-2115)GGA>GAA	p.G705E	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	705	Filaggrin 4.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTCTTTCTCCTGCACTTGA	0.547									Ichthyosis				T	152285248	C	T	152285248	3	4	158	1	0	0	0	0	1	0	0	0	5922	855	30	4	10075	4	FLG	1	152285248	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	113	152285248	96965373	166	83947											
FLG	2312	broad.mit.edu	37	chr1	152287065	152287065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactgtgctttctgtgcttGtgtcctgatatcggtaaatt	10	7	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152287065G>A	uc001ezu.1	-	3	333	c.297C>T	c.(295-297)CAC>CAT	p.H99H	uc001ezv.2_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	99					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTGTGCTTGTGTCCTGATA	0.353									Ichthyosis				A	152287065	G	A	152287065	2	1	158	1	0	0	0	0	0	0	0	1	5922	1368	48	4		4	FLG	1	152287065	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1817	152287065	96963556	167	83948											
CRNN	49860	broad.mit.edu	37	chr1	152382565	152382565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctggctcctgccttgaccGtggatctcagtccctctgtt	10	14	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152382565G>A	uc001ezx.2	-	3	1067	c.993C>T	c.(991-993)CAC>CAT	p.H331H		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	331	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCTTGACCGTGGATCTCAG	0.602													A	152382565	G	A	152382565	2	1	158	1	0	0	0	0	0	0	0	1	3892	1136	40	1		1	CRNN	1	152382565	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	95500	152382565	96868056	168	83949											
CRNN	49860	broad.mit.edu	37	chr1	152382714	152382714	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcatgtcctcctgtcaCagcctggctggtctggctcc	11	15	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152382714C>A	uc001ezx.2	-	3	918	c.844G>T	c.(844-846)GTG>TTG	p.V282L		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	282	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCTGTCACAGCCTGGCTG	0.607													A	152382714	C	A	152382714	3	1	158	1	0	0	0	0	1	0	0	0	3892	478	17	5	647	5	CRNN	1	152382714	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	149	152382714	96867907	169	83950											
LCE1E	353135	broad.mit.edu	37	chr1	152759923	152759923	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagtgtcagctccggaGgctgctgtggctccagctct	14	13	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152759923G>T	uc001fan.2	+	2	201	c.148G>T	c.(148-150)GGC>TGC	p.G50C		NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	50	Cys-rich.				keratinization						0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTCCGGAGGCTGCTGTGG	0.582													T	152759923	G	T	152759923	3	4	158	1	0	0	0	0	1	0	0	0	8663	1000	35	5	150	5	LCE1E	1	152759923	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	377209	152759923	96490698	170	83951											
IVL	3713	broad.mit.edu	37	chr1	152883824	152883824	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcacccagagcagcaggaCggacaactaaaacatctgga	11	11	1	1	rs140811437		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152883824C>T	uc001fau.2	+	2	1597	c.1551C>T	c.(1549-1551)GAC>GAT	p.D517D		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	517	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].|37.				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(3)	3	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcagcaggacggacaactaa	0.174													T	152883824	C	T	152883824	2	4	158	1	0	0	0	0	0	0	0	1	7929	535	19	1		1	IVL	1	152883824	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	123901	152883824	96366797	171	83952											
S100A3	6274	broad.mit.edu	37	chr1	153520867	153520867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagctccttgagctccGcctggcagagcttgtatttg	12	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:153520867G>A	uc001fca.1	-	2	178	c.95C>T	c.(94-96)GCG>GTG	p.A32V	S100A4_uc001fby.2_5'Flank|S100A4_uc001fbz.2_5'Flank|uc009wog.1_Intron	NM_002960	NP_002951	P33764	S10A3_HUMAN	S100 calcium binding protein A3	32	1; low affinity (Potential).|EF-hand 1.						calcium ion binding|protein binding				0	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTGAGCTCCGCCTGGCAGAG	0.647													A	153520867	G	A	153520867	3	1	158	1	0	0	0	0	1	0	0	0	13779	1087	38	1	218	1	S100A3	1	153520867	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	637043	153520867	95729754	172	83953											
NPR1	4881	broad.mit.edu	37	chr1	153659175	153659175	+	Frame_Shift_Del	DEL	C	C	-													tttgtgggagcctgcaccgaCccccccaatatctgcatcct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:153659174_153659174AC>A	uc001fcs.4	+	10	2232	c.1811_1811AC>A	c.(1810-1812)gacfs	p.D604fs	NPR1_uc010pdz.2_Frame_Shift_Del_p.D350fs|NPR1_uc010pea.2_Frame_Shift_Del_p.D82fs	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	604	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	p.N607fs*21(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GCCTGCACCGACCCCCCCAAT	0.592													-	153659175	C	-	153659175	7	5	158	1	0	1	0	1	0	0	0	0	10594	506	18	0	1854	0	NPR1	1	153659175	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	138308	153659175	95591446	173	83954											
INTS3	65123	broad.mit.edu	37	chr1	153736608	153736608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccaggaagactttgactcGgagcagctgtctgtccttgc	11	12	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:153736608G>A	uc009wom.2	+	19	2057	c.1836G>A	c.(1834-1836)TCG>TCA	p.S612S	INTS3_uc001fct.2_Silent_p.S612S|INTS3_uc001fcu.2_Silent_p.S304S|INTS3_uc001fcv.2_Silent_p.S406S|INTS3_uc010peb.1_Silent_p.S406S|INTS3_uc001fcw.2_Silent_p.S125S|INTS3_uc010pec.1_Silent_p.S125S|INTS3_uc001fcy.2_5'Flank|INTS3_uc001fcx.2_5'Flank	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	613					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACTTTGACTCGGAGCAGCTGT	0.562													A	153736608	G	A	153736608	2	1	158	1	0	0	0	0	0	0	0	1	7779	1103	39	1		1	INTS3	1	153736608	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	77433	153736608	95514013	174	83955											
RAB13	5872	broad.mit.edu	37	chr1	153955700	153955700	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggagggtcctcacctcctTgatgcttttcatccagttct	8	12	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:153955700T>C	uc001fdt.1	-	4	413	c.319A>G	c.(319-321)AAG>GAG	p.K107E	RAB13_uc001fdu.1_3'UTR	NM_002870	NP_002861	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	107					cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTCACCTCCTTGATGCTTTTC	0.423													C	153955700	T	C	153955700	3	2	158	1	0	0	0	0	1	0	0	0	12899	1821	63	3	312	3	RAB13	1	153955700	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	219092	153955700	95294921	175	83956											
NUP210L	91181	broad.mit.edu	37	chr1	154027309	154027309	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctgaatggaggaaacacCttgaaggagaaaaccaaaag	11	6	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:154027309C>T	uc001fdw.2	-	24	3313	c.3241_splice	c.e24-1	p.V1081_splice	NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Splice_Site_p.V1081_splice	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1							integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GAGGAAACACCTTGAAGGAGA	0.289													T	154027309	C	T	154027309	5	4	158	1	0	0	0	0	0	0	1	0	10761	695	24	4	2494	4	NUP210L	1	154027309	Splice_Site	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	71609	154027309	95223312	176	83957											
NUP210L	91181	broad.mit.edu	37	chr1	154113971	154113971	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaatgctccactcaaacaTcatccctgccaaactactaa	4	15	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:154113971T>C	uc001fdw.2	-	4	574	c.502A>G	c.(502-504)ATG>GTG	p.M168V	NUP210L_uc010peh.1_Missense_Mutation_p.M168V	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	168						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CACTCAAACATCATCCCTGCC	0.373													C	154113971	T	C	154113971	3	2	158	1	0	0	0	0	1	0	0	0	10761	1435	50	3	5312	3	NUP210L	1	154113971	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	86662	154113971	95136650	177	83958											
IL6R	3570	broad.mit.edu	37	chr1	154401816	154401816	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcagatgggctggcaTgggaaggaggctgctgctga	17	10	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:154401816T>C	uc001fez.1	+	2	667	c.230T>C	c.(229-231)ATG>ACG	p.M77T	IL6R_uc001ffa.1_Missense_Mutation_p.M77T	NM_000565	NP_000556	P08887	IL6RA_HUMAN	interleukin 6 receptor isoform 1 precursor	77	Extracellular (Potential).|Ig-like C2-type.				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity			ovary(3)|breast(1)	4	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGGCTGGCATGGGAAGGAGG	0.642													C	154401816	T	C	154401816	3	2	158	1	0	0	0	0	1	0	0	0	7702	1464	51	3	236	3	IL6R	1	154401816	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	287845	154401816	94848805	178	83959											
DCST1	149095	broad.mit.edu	37	chr1	155018875	155018875	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cactgcccattctgctgctgCtggtggtgctgtgtggcttg	14	11	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:155018875C>G	uc001fgn.1	+	13	1504	c.1408C>G	c.(1408-1410)CTG>GTG	p.L470V	DCST1_uc010per.1_Missense_Mutation_p.L495V|DCST1_uc010pes.1_Missense_Mutation_p.L445V|uc001fgo.2_Intron	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1 isoform 1	470	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(1)|skin(1)	2	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TCTGCTGCTGCTGGTGGTGCT	0.627													G	155018875	C	G	155018875	3	3	158	1	0	0	0	0	1	0	0	0	4302	796	28	5	1454	5	DCST1	1	155018875	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	617059	155018875	94231746	179	83960											
TRIM46	80128	broad.mit.edu	37	chr1	155149471	155149471	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaagacatgccaacgcctgGtatgtcaactctgccgggtg	12	12	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:155149471G>T	uc001fhs.1	+	4	816	c.733G>T	c.(733-735)GTA>TTA	p.V245L	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc010pez.1_Missense_Mutation_p.V232L|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.V245L|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.V119L|TRIM46_uc001fhu.1_Missense_Mutation_p.V222L|TRIM46_uc009wpg.1_Missense_Mutation_p.V232L|TRIM46_uc001fhv.3_Missense_Mutation_p.V232L|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	245	B box-type.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCAACGCCTGGTATGTCAACT	0.567											OREG0013855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	155149471	G	T	155149471	3	4	158	1	0	0	0	0	1	0	0	0	16518	1261	44	5	747	5	TRIM46	1	155149471	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	130596	155149471	94101150	180	83961											
TRIM46	80128	broad.mit.edu	37	chr1	155156381	155156381	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagatcctgctggggtcGggggcaagctcaaacgcagg	17	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:155156381G>A	uc001fhs.1	+	10	2078	c.1995G>A	c.(1993-1995)TCG>TCA	p.S665S	RAG1AP1_uc010pey.1_Intron|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Silent_p.S539S|TRIM46_uc001fhu.1_Silent_p.S642S|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	665	B30.2/SPRY.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGCTGGGGTCGGGGGCAAGCT	0.672													A	155156381	G	A	155156381	2	1	158	1	0	0	0	0	0	0	0	1	16518	1103	39	1		1	TRIM46	1	155156381	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	6910	155156381	94094240	181	83962											
THBS3	7059	broad.mit.edu	37	chr1	155175014	155175016	+	In_Frame_Del	DEL	AGG	AGG	-													tggagggacctcggagtcgcAggagaactgtgtgtgtgcgc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:155175013_155175015CAGG>C	uc001fix.3	-	2	484_486	c.379_381CCTG>G	c.(379-381)ctg>G	p.L127del	THBS3_uc010pfu.2_Intron|THBS3_uc009wqi.3_In_Frame_Del_p.L127del|THBS3_uc001fiy.3_5'UTR|THBS3_uc010pfv.2_Intron|THBS3_uc001fja.2_Non-coding_Transcript|THBS3_uc009wqj.1_In_Frame_Del_p.L89del	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	127	TSP N-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCGGAGTCGCAGGAGAACTGTG	0.621													-	155175016	AGG	-	155175014	7	5	158	1	0	1	0	1	0	0	0	0	15852	188	7	0	2574	0	THBS3	1	155175014	In_Frame_Del	DEL	AGG	TCGA-CD-A4MG-01A-11D-A25D-08	18633	155175014	94075607	182	83963											
ASH1L	55870	broad.mit.edu	37	chr1	155322513	155322513	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacctttataagagatgatAccatcacaaatttctttgaa	4	8	3	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:155322513A>G	uc009wqq.2	-	17	7845	c.7365T>C	c.(7363-7365)GGT>GGC	p.G2455G	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Silent_p.G2450G	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2455					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AAGAGATGATACCATCACAAA	0.328													G	155322513	A	G	155322513	2	3	158	1	0	0	0	0	0	0	0	1	1041	378	14	3		3	ASH1L	1	155322513	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	147499	155322513	93928108	183	83964											
MEX3A	92312	broad.mit.edu	37	chr1	156047288	156047288	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagcaggagccacaccaaAggcggcgcctgacttgttgc	13	13	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:156047288A>G	uc001fnd.3	-	2	640	c.640T>C	c.(640-642)TTT>CTT	p.F214L		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	214						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					GCCACACCAAAGGCGGCGCCT	0.672													G	156047288	A	G	156047288	3	3	158	1	0	0	0	0	1	0	0	0	9509	72	3	3	926	3	MEX3A	1	156047288	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	724775	156047288	93203333	184	83965											
CCT3	7203	broad.mit.edu	37	chr1	156290648	156290648	+	Frame_Shift_Del	DEL	T	T	-													accttttccactcttgcataTttttttatgtcaatctcttt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:156290647_156290647AT>A	uc001fol.2	-	6	823	c.592_592AT>T	c.(592-594)tatfs	p.Y198fs	CCT3_uc010phj.2_Frame_Shift_Del_p.Y152fs|CCT3_uc010phk.2_Frame_Shift_Del_p.Y152fs|CCT3_uc001fon.2_Frame_Shift_Del_p.Y160fs|CCT3_uc010phl.2_Frame_Shift_Del_p.Y152fs	NM_005998	NP_005989	P49368	TCPG_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 3 (gamma) (CCT3), transcript variant 1, mRNA.	198					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ACTCTTGCATATTTTTTTATG	0.388													-	156290648	T	-	156290648	7	5	158	1	0	1	0	1	0	0	0	0	2954	1490	52	0	1078	0	CCT3	1	156290648	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	243360	156290648	92959973	185	83966											
IQGAP3	128239	broad.mit.edu	37	chr1	156539249	156539249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatctcctcagctgtgaggCgttcatctgaggagttaaac	10	11	4	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:156539249C>T	uc001fpf.2	-	2	119	c.44G>A	c.(43-45)CGC>CAC	p.R15H	IQGAP3_uc009wsb.1_Intron	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	15					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCTGTGAGGCGTTCATCTGA	0.468													T	156539249	C	T	156539249	3	4	158	1	0	0	0	0	1	0	0	0	7816	768	27	1	4999	1	IQGAP3	1	156539249	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	248601	156539249	92711372	186	83967											
GPATCH4	54865	broad.mit.edu	37	chr1	156565504	156565504	+	Frame_Shift_Del	DEL	T	T	-													tctgcctccttttctttttcTtttttttggggggcttgctc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:156565503_156565503CT>C	uc001fpm.3	-	7	678	c.630_630AG>G	c.(628-630)aagfs	p.K210fs	APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.3_Frame_Shift_Del_p.K205fs	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	Homo sapiens G patch domain containing 4 (GPATCH4), transcript variant 1, mRNA.	205						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTTCTTTTTCTTTTTTTTGG	0.532													-	156565504	T	-	156565504	7	5	158	1	0	1	0	1	0	0	0	0	6593	1609	56	0	502	0	GPATCH4	1	156565504	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	26255	156565504	92685117	187	83968											
C1orf66	51093	broad.mit.edu	37	chr1	156702119	156702119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggccctgaagtccacgGcgtgtgccctggcctttacc	12	15	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:156702119G>A	uc001fpu.2	+	3	917	c.283G>A	c.(283-285)GCG>ACG	p.A95T	C1orf66_uc001fpv.2_Missense_Mutation_p.A95T	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	hypothetical protein LOC51093 isoform 1	95						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAAGTCCACGGCGTGTGCCCT	0.592													A	156702119	G	A	156702119	3	1	158	1	0	0	0	0	1	0	0	0	2056	1203	42	2	293	2	C1orf66	1	156702119	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	136615	156702119	92548502	188	83969											
SH2D2A	9047	broad.mit.edu	37	chr1	156779586	156779586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtcctcagggaaagtcctGcaggctcaggagtctgctgg	15	11	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:156779586G>A	uc001fqd.2	-	6	721	c.581C>T	c.(580-582)GCA>GTA	p.A194V	SH2D2A_uc001fqc.1_Missense_Mutation_p.A166V|SH2D2A_uc009wsh.2_Missense_Mutation_p.A204V|SH2D2A_uc001fqe.2_Missense_Mutation_p.A176V|SH2D2A_uc010phs.1_Missense_Mutation_p.A194V	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN	SH2 domain protein 2A isoform 2	194	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity				0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGAAAGTCCTGCAGGCTCAGG	0.547													A	156779586	G	A	156779586	3	1	158	1	0	0	0	0	1	0	0	0	14232	1319	46	2	600	2	SH2D2A	1	156779586	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	77467	156779586	92471035	189	83970											
SPTA1	6708	broad.mit.edu	37	chr1	158622327	158622327	+	Frame_Shift_Del	DEL	T	T	-													ccactccagtgttttctgccTttttctcttgaatccattcc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:158622326_158622326CT>C	uc001fst.1	-	22	3505	c.3306_3306AG>G	c.(3304-3306)aagfs	p.K1102fs		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1102					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGTTTTCTGCCTTTTTCTCTT	0.428													-	158622327	T	-	158622327	7	5	158	1	0	1	0	1	0	0	0	0	15115	1609	56	0	4074	0	SPTA1	1	158622327	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	1842741	158622327	90628294	190	83971											
IFI16	3428	broad.mit.edu	37	chr1	159021716	159021716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagcaaattatgtttgccGcaatgggttcctggaggtat	11	7	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:159021716G>A	uc001ftg.2	+	9	2035	c.1745G>A	c.(1744-1746)CGC>CAC	p.R582H	IFI16_uc010pis.1_Missense_Mutation_p.R582H|IFI16_uc001fth.2_Missense_Mutation_p.R125H|IFI16_uc010pit.1_Missense_Mutation_p.R181H	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	638	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)					TATGTTTGCCGCAATGGGTTC	0.428													A	159021716	G	A	159021716	3	1	158	1	0	0	0	0	1	0	0	0	7511	1087	38	1	1775	1	IFI16	1	159021716	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	399389	159021716	90228905	191	83972											
CADM3	57863	broad.mit.edu	37	chr1	159162508	159162508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgaactgccaagtccctcGtcactgtgctaggtgagact	11	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:159162508G>A	uc001ftl.2	+	3	512	c.370G>A	c.(370-372)GTC>ATC	p.V124I	CADM3_uc009wsx.1_Missense_Mutation_p.V158I|CADM3_uc009wsy.1_Missense_Mutation_p.V124I|CADM3_uc001ftk.2_Missense_Mutation_p.V158I	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	124	Ig-like V-type.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					CAAGTCCCTCGTCACTGTGCT	0.567													A	159162508	G	A	159162508	3	1	158	1	0	0	0	0	1	0	0	0	2568	1145	40	1	486	1	CADM3	1	159162508	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	140792	159162508	90088113	192	83973											
OR10J1	26476	broad.mit.edu	37	chr1	159409818	159409818	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatacattggtcattctcccAagaatgctctccagcctcgt	6	13	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:159409818A>C	uc010piv.1	+	1	270	c.270A>C	c.(268-270)CCA>CCC	p.P90P	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	90	Extracellular (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					TCATTCTCCCAAGAATGCTCT	0.463													C	159409818	A	C	159409818	2	2	158	1	0	0	0	0	0	0	0	1	10910	117	5	5		5	OR10J1	1	159409818	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	247310	159409818	89840803	193	83974											
CRP	1401	broad.mit.edu	37	chr1	159683390	159683390	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccgccagttcaggacattAggactgaagggcccgccaag	13	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:159683390A>G	uc001ftw.2	-	2	704	c.600T>C	c.(598-600)CCT>CCC	p.P200P	CRP_uc001ftx.1_Silent_p.P67P|CRP_uc001fty.1_RNA	NM_000567	NP_000558	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related precursor	200	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	TCAGGACATTAGGACTGAAGG	0.542													G	159683390	A	G	159683390	2	3	158	1	0	0	0	0	0	0	0	1	3895	407	15	3		3	CRP	1	159683390	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	273572	159683390	89567231	194	83975											
CRP	1401	broad.mit.edu	37	chr1	159684248	159684248	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcatgagagaggctggtcaAgaccaagaaacacaacagct	11	9	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:159684248A>G	uc001ftw.2	-	1	132	c.28T>C	c.(28-30)TTG>CTG	p.L10L	CRP_uc001ftx.1_Silent_p.L10L|CRP_uc001fty.1_5'Flank	NM_000567	NP_000558	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related precursor	10					acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	AGGCTGGTCAAGACCAAGAAA	0.507													G	159684248	A	G	159684248	2	3	158	1	0	0	0	0	0	0	0	1	3895	69	3	3		3	CRP	1	159684248	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	858	159684248	89566373	195	83976											
CCDC19	25790	broad.mit.edu	37	chr1	159842807	159842807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcctcctctttgaggcGccggccctcctcaaaggtgg	13	15	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:159842807G>A	uc001fui.2	-	11	1522	c.1504C>T	c.(1504-1506)CGC>TGC	p.R502C	CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.R417C|CCDC19_uc001ful.2_Missense_Mutation_p.R417C	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	502	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCTTTGAGGCGCCGGCCCTCC	0.587													A	159842807	G	A	159842807	3	1	158	1	0	0	0	0	1	0	0	0	2795	1087	38	1	159	1	CCDC19	1	159842807	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	158559	159842807	89407814	196	83977											
KCNJ10	3766	broad.mit.edu	37	chr1	160011752	160011752	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgaggcagggcttgccatTgtgggaggccacaactgcat	14	10	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:160011752T>C	uc001fuw.1	-	2	721	c.571A>G	c.(571-573)AAT>GAT	p.N191D		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	191	Cytoplasmic (By similarity).					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCTTGCCATTGTGGGAGGCC	0.547													C	160011752	T	C	160011752	3	2	158	1	0	0	0	0	1	0	0	0	8044	1812	63	3	572	3	KCNJ10	1	160011752	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	168945	160011752	89238869	197	83978											
IGSF8	93185	broad.mit.edu	37	chr1	160062116	160062116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccctgagcgggcactgCccgcctggtaccagctgtag	14	15	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:160062116C>T	uc001fva.2	-	5	1727	c.1682G>A	c.(1681-1683)GGC>GAC	p.G561D	IGSF8_uc001fuz.2_Missense_Mutation_p.G561D|IGSF8_uc009wtf.2_Missense_Mutation_p.G561D	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	561	Extracellular (Potential).				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding				0	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCGGGCACTGCCCGCCTGGTA	0.642													T	160062116	C	T	160062116	3	4	158	1	0	0	0	0	1	0	0	0	7604	739	26	2	167	2	IGSF8	1	160062116	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	50364	160062116	89188505	198	83979											
IGSF8	93185	broad.mit.edu	37	chr1	160062786	160062786	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgaagccgggtcccagaccCtcgaacataggctttggcga	12	13	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:160062786C>A	uc001fva.2	-	4	1285	c.1240G>T	c.(1240-1242)GGG>TGG	p.G414W	IGSF8_uc001fuz.2_Missense_Mutation_p.G414W|IGSF8_uc009wtf.2_Missense_Mutation_p.G414W	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	414	Ig-like C2-type 3.|Extracellular (Potential).				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding				0	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTCCCAGACCCTCGAACATAG	0.657													A	160062786	C	A	160062786	3	1	158	1	0	0	0	0	1	0	0	0	7604	681	24	5	613	5	IGSF8	1	160062786	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	670	160062786	89187835	199	83980											
ATP1A4	480	broad.mit.edu	37	chr1	160141449	160141449	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagatgaaataaatttccccAtggacaacctttgttttgtg	7	8	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:160141449A>G	uc001fve.3	+	12	2235	c.1756A>G	c.(1756-1758)ATG>GTG	p.M586V	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.M89V	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	586	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAATTTCCCCATGGACAACCT	0.493													G	160141449	A	G	160141449	3	3	158	1	0	0	0	0	1	0	0	0	1131	217	8	3	1802	3	ATP1A4	1	160141449	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	78663	160141449	89109172	200	83981											
DCAF8	50717	broad.mit.edu	37	chr1	160249918	160249918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgagtggtttcactgtctGtgggggtctctgcctcaaac	12	9	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:160249918G>A	uc010pjc.1	-	4	544	c.272C>T	c.(271-273)ACA>ATA	p.T91I	PEX19_uc010pje.1_RNA|PEX19_uc001fvs.2_Missense_Mutation_p.T238I|PEX19_uc001fvt.2_Missense_Mutation_p.T148I	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	Error:Variant_position_missing_in_Q5TAQ9_after_alignment						CUL4 RING ubiquitin ligase complex	protein binding			skin(2)	2						TTCACTGTCTGTGGGGGTCTC	0.498													A	160249918	G	A	160249918	3	1	158	1	0	0	0	0	1	0	0	0	4276	1377	48	4		4	DCAF8	1	160249918	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	108469	160249918	89000703	201	83982											
NCSTN	23385	broad.mit.edu	37	chr1	160319417	160319417	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaccaagcccagtcctgcCtcaggcttctctcctagtgt	8	15	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:160319417C>A	uc001fvx.2	+	4	517	c.393C>A	c.(391-393)GCC>GCA	p.A131A	NCSTN_uc009wtk.1_RNA|NCSTN_uc001fvy.2_Silent_p.A111A|NCSTN_uc010pjf.1_Silent_p.A131A|NCSTN_uc001fvz.2_5'Flank|NCSTN_uc010pjg.1_5'Flank	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	131	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAGTCCTGCCTCAGGCTTCT	0.502													A	160319417	C	A	160319417	2	1	158	1	0	0	0	0	0	0	0	1	10241	668	24	5		5	NCSTN	1	160319417	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	69499	160319417	88931204	202	83983											
F11R	50848	broad.mit.edu	37	chr1	160970515	160970515	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgtcttcccgtgtcacGgacttgaaggtgataccagt	11	11	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:160970515G>A	uc009wtt.2	-	4	564	c.294C>T	c.(292-294)TCC>TCT	p.S98S	F11R_uc010pjv.1_Intron|F11R_uc001fxe.3_Silent_p.S98S|F11R_uc009wtu.2_Silent_p.S98S|F11R_uc010pjw.1_Silent_p.S102S|F11R_uc001fxf.3_Silent_p.S98S	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	F11 receptor precursor	98	Extracellular (Potential).|Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				ovary(2)	2	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CCCGTGTCACGGACTTGAAGG	0.532													A	160970515	G	A	160970515	2	1	158	1	0	0	0	0	0	0	0	1	5338	1103	39	1		1	F11R	1	160970515	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	651098	160970515	88280106	203	83984											
ARHGAP30	257106	broad.mit.edu	37	chr1	161021109	161021114	+	In_Frame_Del	DEL	GGGCCA	GGGCCA	-													tcaatgggtcctcacctgggGggccagggccaaggccaggg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:161021108_161021113GGGGCCA>G	uc001fxl.3	-	9	1757_1762	c.1411_1416TGGCCCC>C	c.(1411-1416)ggcccc>C	p.GP471del	ARHGAP30_uc001fxk.3_In_Frame_Del_p.GP471del|ARHGAP30_uc001fxm.3_In_Frame_Del_p.GP317del|ARHGAP30_uc009wtx.3_In_Frame_Del_p.GP144del|ARHGAP30_uc001fxn.1_In_Frame_Del_p.GP317del	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	471					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCTCACCTGGGgggccagggccaagg	0.636													-	161021114	GGGCCA	-	161021109	7	5	158	1	0	1	0	1	0	0	0	0	879	1232	43	0	1902	0	ARHGAP30	1	161021109	In_Frame_Del	DEL	GGGCCA	TCGA-CD-A4MG-01A-11D-A25D-08	50594	161021109	88229512	204	83985											
NIT1	4817	broad.mit.edu	37	chr1	161090509	161090509	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacctgcctgtgttccagcAccgcaggcctgacctctatg	9	16	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:161090509A>G	uc001fxv.1	+	7	1014	c.938A>G	c.(937-939)CAC>CGC	p.H313R	PFDN2_uc001fxu.2_5'Flank|NIT1_uc001fxw.2_Intron|NIT1_uc001fxx.1_Missense_Mutation_p.H277R|NIT1_uc001fxy.1_Missense_Mutation_p.H277R|NIT1_uc010pka.1_Missense_Mutation_p.H298R	NM_005600	NP_005591	Q86X76	NIT1_HUMAN	nitrilase 1	313	CN hydrolase.				nitrogen compound metabolic process	mitochondrion	nitrilase activity				0	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GTGTTCCAGCACCGCAGGCCT	0.597													G	161090509	A	G	161090509	3	3	158	1	0	0	0	0	1	0	0	0	10433	159	6	3	1021	3	NIT1	1	161090509	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	69400	161090509	88160112	205	83986											
ADAMTS4	9507	broad.mit.edu	37	chr1	161165362	161165362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgacatggcgagaggtgCtcaaaggcccattcaaactg	11	11	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:161165362C>T	uc001fyt.3	-	4	1582	c.1154G>A	c.(1153-1155)AGC>AAC	p.S385N		NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	385	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCGAGAGGTGCTCAAAGGCCC	0.557													T	161165362	C	T	161165362	3	4	158	1	0	0	0	0	1	0	0	0	268	797	28	2	1383	2	ADAMTS4	1	161165362	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	74853	161165362	88085259	206	83987											
NR1I3	9970	broad.mit.edu	37	chr1	161202682	161202682	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgtgtgaccagaggcaGcacaggggccagggtgggca	19	8	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:161202682G>A	uc001fzx.2	-	5	666	c.463C>T	c.(463-465)CTG>TTG	p.L155L	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Silent_p.L155L|NR1I3_uc001fzg.2_Silent_p.L126L|NR1I3_uc001fzh.2_Silent_p.L126L|NR1I3_uc001fzi.2_Silent_p.L126L|NR1I3_uc001fzj.2_Silent_p.L126L|NR1I3_uc001fzk.2_Silent_p.L126L|NR1I3_uc001fzl.2_Silent_p.L126L|NR1I3_uc001fzm.2_Silent_p.L80L|NR1I3_uc001fzn.2_5'UTR|NR1I3_uc009wug.2_5'UTR|NR1I3_uc001fzp.2_Silent_p.L155L|NR1I3_uc001fzo.2_5'UTR|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_5'UTR|NR1I3_uc001fzt.2_5'UTR|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Silent_p.L155L|NR1I3_uc001fzy.2_Silent_p.L155L|NR1I3_uc001fzz.2_Silent_p.L155L|NR1I3_uc001gaa.2_Silent_p.L155L|NR1I3_uc001gab.2_Silent_p.L155L|NR1I3_uc001gac.2_Silent_p.L126L|NR1I3_uc010pkm.1_Silent_p.L126L|NR1I3_uc010pkn.1_Silent_p.L155L	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2	155					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACCAGAGGCAGCACAGGGGCC	0.557													A	161202682	G	A	161202682	2	1	158	1	0	0	0	0	0	0	0	1	10621	962	34	2		2	NR1I3	1	161202682	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	37320	161202682	88047939	207	83988											
FCRLA	84824	broad.mit.edu	37	chr1	161681812	161681812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagttgtcagacaaagttGcccctgcagaggtcagctgc	12	11	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:161681812G>A	uc001gbe.2	+	5	899	c.657G>A	c.(655-657)TTG>TTA	p.L219L	FCRLA_uc001gbd.2_Silent_p.L213L|FCRLA_uc001gbf.2_Silent_p.L124L|FCRLA_uc001gbg.2_Silent_p.L73L|FCRLA_uc009wuo.2_Silent_p.L79L|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	196	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			AGACAAAGTTGCCCCTGCAGA	0.547													A	161681812	G	A	161681812	2	1	158	1	0	0	0	0	0	0	0	1	5800	1310	46	2		2	FCRLA	1	161681812	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	479130	161681812	87568809	208	83989											
OLFML2B	25903	broad.mit.edu	37	chr1	161969963	161969963	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttatagtaggtgatgccccGgatgacagtgggctgggagg	17	6	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:161969963G>T	uc001gbu.2	-	5	1313	c.889C>A	c.(889-891)CGG>AGG	p.R297R	OLFML2B_uc010pkq.1_Silent_p.R298R	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	297										skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GTGATGCCCCGGATGACAGTG	0.627													T	161969963	G	T	161969963	2	4	158	1	0	0	0	0	0	0	0	1	10858	1115	39	5		5	OLFML2B	1	161969963	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	288151	161969963	87280658	209	83990											
HSD17B7	51478	broad.mit.edu	37	chr1	162773258	162773258	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgtccaggtacagcatTgaccaatttgacatatggaa	10	9	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:162773258T>C	uc001gci.2	+	6	775	c.680T>C	c.(679-681)TTG>TCG	p.L227S	HSD17B7_uc009wuv.2_RNA	NM_016371	NP_057455	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	227	Extracellular (Potential).				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			ovary(1)	1	all_hematologic(112;0.115)				NADH(DB00157)	GGTACAGCATTGACCAATTTG	0.418													C	162773258	T	C	162773258	3	2	158	1	0	0	0	0	1	0	0	0	7388	1821	63	3	702	3	HSD17B7	1	162773258	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	803295	162773258	86477363	210	83991											
RGS4	5999	broad.mit.edu	37	chr1	163043395	163043395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctataatgaattcatctcaGtccaggcaaccaaagaggta	7	9	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:163043395G>A	uc009wuy.2	+	4	872	c.361G>A	c.(361-363)GTC>ATC	p.V121I	RGS4_uc001gcl.3_Missense_Mutation_p.V218I|RGS4_uc009wuz.2_Intron|RGS4_uc009wva.2_Missense_Mutation_p.V103I	NM_005613	NP_005604	P49798	RGS4_HUMAN	regulator of G-protein signaling 4 isoform 2	121	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(2)|central_nervous_system(1)	3						ATTCATCTCAGTCCAGGCAAC	0.239													A	163043395	G	A	163043395	3	1	158	1	0	0	0	0	1	0	0	0	13307	1029	36	4	670	4	RGS4	1	163043395	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	270137	163043395	86207226	211	83992											
RGS4	5999	broad.mit.edu	37	chr1	163044171	163044171	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatgctagagcctacaataAcctgctttgatgaggcccag	9	11	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:163044171A>G	uc009wuy.2	+	5	950	c.439A>G	c.(439-441)ACC>GCC	p.T147A	RGS4_uc001gcl.3_Missense_Mutation_p.T244A|RGS4_uc009wuz.2_Missense_Mutation_p.N91S|RGS4_uc009wva.2_Missense_Mutation_p.T129A	NM_005613	NP_005604	P49798	RGS4_HUMAN	regulator of G-protein signaling 4 isoform 2	147	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(2)|central_nervous_system(1)	3						GCCTACAATAACCTGCTTTGA	0.493													G	163044171	A	G	163044171	3	3	158	1	0	0	0	0	1	0	0	0	13307	43	2	3	752	3	RGS4	1	163044171	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	776	163044171	86206450	212	83993											
PBX1	5087	broad.mit.edu	37	chr1	164761864	164761864	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcagcggcggcagcggcGgcggcttctggaggggcagg	23	11	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:164761864G>A	uc001gct.2	+	3	657	c.399G>A	c.(397-399)GCG>GCA	p.A133A	PBX1_uc010pku.1_Silent_p.A133A|PBX1_uc010pkv.1_Silent_p.A50A|PBX1_uc001gcs.2_Silent_p.A133A|PBX1_uc010pkw.1_Silent_p.A23A	NM_002585	NP_002576	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	133	Poly-Ala.				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	soft_tissue(3)|lung(1)|skin(1)	5						cggcagcggcggcggcTTCTG	0.488			T	TCF3|EWSR1	pre B-ALL|myoepithelioma								A	164761864	G	A	164761864	2	1	158	1	0	0	0	0	0	0	0	1	11492	1103	39	1		1	PBX1	1	164761864	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1717693	164761864	84488757	213	83994											
LMX1A	4009	broad.mit.edu	37	chr1	165324849	165324849	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaaacgatgcgtctgacGtccgtgcccgctgggactcg	14	12	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:165324849G>A	uc001gcy.1	-	1	169	c.-52C>T	c.(-54--50)GACGT>GATGT		LMX1A_uc001gcz.1_Intron	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	all_hematologic(923;0.248)					TGCGTCTGACGTCCGTGCCCG	0.627													A	165324849	G	A	165324849	1	1	158	1	0	0	0	0	0	0	0	0	8861	1160	40	1		1	LMX1A	1	165324849	Translation_Start_Site	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	562985	165324849	83925772	214	83995											
ADCY10	55811	broad.mit.edu	37	chr1	167814929	167814931	+	In_Frame_Del	DEL	TCT	TCT	-													agtggtcacatctgtgggcaTcttcttctaaaaagcgggca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:167814928_167814930ATCT>A	uc001ger.3	-	20	3176_3178	c.2878_2880AGAT>T	c.(2878-2880)gat>T	p.D960del	ADCY10_uc010plj.2_In_Frame_Del_p.D807del|ADCY10_uc009wvk.3_In_Frame_Del_p.D868del|ADCY10_uc009wvl.3_In_Frame_Del_p.D959del	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	960					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ATCTGTGGGCATCTTCTTCTAAA	0.468													-	167814931	TCT	-	167814929	7	5	158	1	0	1	0	1	0	0	0	0	293	1435	50	0	2005	0	ADCY10	1	167814929	In_Frame_Del	DEL	TCT	TCGA-CD-A4MG-01A-11D-A25D-08	2490080	167814929	81435692	215	83996											
ADCY10	55811	broad.mit.edu	37	chr1	167863157	167863157	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcaggatcaggcttcagCgtgcatgcaagcctcaggag	13	10	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:167863157C>T	uc001ger.2	-	8	1060	c.762G>A	c.(760-762)ACG>ACA	p.T254T	ADCY10_uc009wvk.2_Silent_p.T162T|ADCY10_uc010plj.1_Silent_p.T101T|ADCY10_uc009wvl.2_Silent_p.T253T|ADCY10_uc009wvm.2_RNA	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	254					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						CAGGCTTCAGCGTGCATGCAA	0.493													T	167863157	C	T	167863157	2	4	158	1	0	0	0	0	0	0	0	1	293	755	27	1		1	ADCY10	1	167863157	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	48228	167863157	81387464	216	83997											
TBX19	9095	broad.mit.edu	37	chr1	168278092	168278092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctgtaccccacaccaaCggaccaatcaatccagggcc	7	17	2	0	rs141608452		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:168278092C>T	uc001gfl.2	+	7	1080	c.1029C>T	c.(1027-1029)AAC>AAT	p.N343N	TBX19_uc001gfj.3_Silent_p.N211N|TBX19_uc001gfm.2_Silent_p.N46N	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	343					anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)					CCCACACCAACGGACCAATCA	0.507													T	168278092	C	T	168278092	2	4	158	1	0	0	0	0	0	0	0	1	15651	535	19	1		1	TBX19	1	168278092	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	414935	168278092	80972529	217	83998											
BLZF1	8548	broad.mit.edu	37	chr1	169351458	169351458	+	Frame_Shift_Del	DEL	A	A	-													aaatgttggcattaacaatcAaaaaaagattccatcaacag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:169351457_169351457CA>C	uc001gfx.2	+	5	1392	c.955_955CA>C	c.(955-957)caafs	p.Q319fs	BLZF1_uc001gfy.3_Frame_Shift_Del_p.Q319fs|BLZF1_uc009wvp.1_Intron	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN	Homo sapiens basic leucine zipper nuclear factor 1 (BLZF1), mRNA.	319					Golgi organization|Golgi to plasma membrane protein transport|cell proliferation|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					CATTAACAATCAAAAAAAGAT	0.383													-	169351458	A	-	169351458	7	5	158	1	0	1	0	1	0	0	0	0	1453	130	5	0	974	0	BLZF1	1	169351458	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	1073366	169351458	79899163	218	83999											
F5	2153	broad.mit.edu	37	chr1	169511145	169511145	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacgaatgcttaagtcttctTtctgaaaatgtgttgtaggc	9	6	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:169511145T>G	uc001ggg.1	-	13	3328	c.3183A>C	c.(3181-3183)GAA>GAC	p.E1061D		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1061	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TAAGTCTTCTTTCTGAAAATG	0.418													G	169511145	T	G	169511145	3	3	158	1	0	0	0	0	1	0	0	0	5348	1838	64	5	3543	5	F5	1	169511145	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	159687	169511145	79739476	219	84000											
SELE	6401	broad.mit.edu	37	chr1	169696559	169696559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagctgcagagccattgaGcgtccatccttcaggacagg	12	13	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:169696559G>A	uc001ggm.3	-	10	1733	c.1576C>T	c.(1576-1578)CTC>TTC	p.L526F	C1orf112_uc001ggj.2_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	selectin E precursor	526	Extracellular (Potential).|Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			ovary(3)|skin(2)	5	all_hematologic(923;0.208)					GAGCCATTGAGCGTCCATCCT	0.552													A	169696559	G	A	169696559	3	1	158	1	0	0	0	0	1	0	0	0	14013	971	34	2	272	2	SELE	1	169696559	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	185414	169696559	79554062	220	84001											
C1orf112	55732	broad.mit.edu	37	chr1	169790902	169790902	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttttgcactacgctaaggTaaggctttattatacgttac	7	9	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:169790902T>C	uc001ggp.2	+	10	1093	c.783_splice	c.e10+2	p.K261_splice	C1orf112_uc001ggj.2_Splice_Site|C1orf112_uc001ggq.2_Splice_Site_p.K261_splice|C1orf112_uc009wvt.2_Splice_Site|C1orf112_uc010plu.1_Splice_Site_p.K232_splice|C1orf112_uc009wvu.1_Intron|C1orf112_uc001ggr.2_Splice_Site_p.K126_splice|C1orf112_uc010plv.1_Splice_Site_p.K203_splice	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	hypothetical protein LOC55732												0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					tacgctaaggtaaggctttat	0.149													C	169790902	T	C	169790902	5	2	158	1	0	0	0	0	0	0	1	0	1985	1652	57	3	811	3	C1orf112	1	169790902	Splice_Site	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	94343	169790902	79459719	221	84002											
KIFAP3	22920	broad.mit.edu	37	chr1	170004596	170004596	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taataatttttatacttaccTggagaaacaaaaaaagatgt	5	4	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:170004596T>G	uc001ggv.2	-	6	887	c.616A>C	c.(616-618)AGC>CGC	p.S206R	KIFAP3_uc010ply.1_Missense_Mutation_p.S128R|KIFAP3_uc001ggw.1_Missense_Mutation_p.S162R	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	206					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					tataCTTACCTGGAGAAACAA	0.348													G	170004596	T	G	170004596	3	3	158	1	0	0	0	0	1	0	0	0	8311	1594	55	5	1822	5	KIFAP3	1	170004596	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	213694	170004596	79246025	222	84003											
C1orf129	80133	broad.mit.edu	37	chr1	170955724	170955724	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtagggcaaaccttactgcCtcccttgctgactgactttg	9	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:170955724C>A	uc001ghg.2	+	10	882	c.752C>A	c.(751-753)CCT>CAT	p.P251H	C1orf129_uc009wvy.2_Missense_Mutation_p.P58H|C1orf129_uc010plz.1_Missense_Mutation_p.P251H	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	251							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACCTTACTGCCTCCCTTGCTG	0.458													A	170955724	C	A	170955724	3	1	158	1	0	0	0	0	1	0	0	0	1996	681	24	5	786	5	C1orf129	1	170955724	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	951128	170955724	78294897	223	84004											
BAT2L2	23215	broad.mit.edu	37	chr1	171509123	171509123	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcataggtctgaagctgcgTtggaccaggaacagattact	11	8	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:171509123T>C	uc010pmg.1	+	16	2778	c.2512T>C	c.(2512-2514)TTG>CTG	p.L838L	BAT2L2_uc010pmh.1_5'UTR	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	838							protein C-terminus binding				0						TGAAGCTGCGTTGGACCAGGA	0.383													C	171509123	T	C	171509123	2	2	158	1	0	0	0	0	0	0	0	1	1321	1722	60	3		3	BAT2L2	1	171509123	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	553399	171509123	77741498	224	84005											
C1orf105	92346	broad.mit.edu	37	chr1	172437657	172437657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacggattactgacagagGcctacaaaactctaaaagag	8	10	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:172437657G>A	uc001gik.2	+	7	671	c.475G>A	c.(475-477)GCC>ACC	p.A159T		NM_139240	NP_640333	O95561	CA105_HUMAN	hypothetical protein LOC92346	159										skin(1)	1						ACTGACAGAGGCCTACAAAAC	0.498													A	172437657	G	A	172437657	3	1	158	1	0	0	0	0	1	0	0	0	1979	1203	42	2	501	2	C1orf105	1	172437657	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	928534	172437657	76812964	225	84006											
TNN	63923	broad.mit.edu	37	chr1	175067636	175067636	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagagcagcacagtccTgacaggcctgagaccgggta	15	11	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:175067636T>C	uc001gkl.1	+	9	2137	c.2024T>C	c.(2023-2025)CTG>CCG	p.L675P	TNN_uc010pmx.1_Missense_Mutation_p.L586P	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	675	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCACAGTCCTGACAGGCCTG	0.627													C	175067636	T	C	175067636	3	2	158	1	0	0	0	0	1	0	0	0	16320	1580	55	3	2054	3	TNN	1	175067636	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	2629979	175067636	74182985	226	84007											
FAM5B	57795	broad.mit.edu	37	chr1	177250156	177250156	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctttcctgactgggaaaGgactaacgtggatgcagctg	13	9	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:177250156G>T	uc001glf.2	+	8	2156	c.1844G>T	c.(1843-1845)AGG>ATG	p.R615M	FAM5B_uc001glg.2_Missense_Mutation_p.R510M	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	615						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						GACTGGGAAAGGACTAACGTG	0.532													T	177250156	G	T	177250156	3	4	158	1	0	0	0	0	1	0	0	0	5593	1000	35	5	1870	5	FAM5B	1	177250156	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2182520	177250156	72000465	227	84008											
FAM20B	9917	broad.mit.edu	37	chr1	179013231	179013231	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccctgaagagacaccagaGctgggggcagtcatgcatgc	13	11	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:179013231G>T	uc001gmc.2	+	2	542	c.249G>T	c.(247-249)GAG>GAT	p.E83D		NM_014864	NP_055679	O75063	XYLK_HUMAN	hypothetical protein LOC9917 precursor	83	Lumenal (Potential).					Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(3)	3						AGACACCAGAGCTGGGGGCAG	0.537													T	179013231	G	T	179013231	3	4	158	1	0	0	0	0	1	0	0	0	5538	962	34	5	251	5	FAM20B	1	179013231	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1763075	179013231	70237390	228	84009											
LHX4	89884	broad.mit.edu	37	chr1	180235643	180235643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgcatcatctgcaaccGgcagctggccacgggggacg	14	13	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:180235643G>A	uc001goe.1	+	3	588	c.365G>A	c.(364-366)CGG>CAG	p.R122Q		NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	122	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						ATCTGCAACCGGCAGCTGGCC	0.612													A	180235643	G	A	180235643	3	1	158	1	0	0	0	0	1	0	0	0	8773	1116	39	1	375	1	LHX4	1	180235643	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1222412	180235643	69014978	229	84010											
XPR1	9213	broad.mit.edu	37	chr1	180849282	180849282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgaattccgtgctgtgCgggacatctctgtggccccc	14	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:180849282C>T	uc001goi.2	+	14	2071	c.1879C>T	c.(1879-1881)CGG>TGG	p.R627W	XPR1_uc009wxn.2_Missense_Mutation_p.R562W	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor	627	EXS.|Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0						CCGTGCTGTGCGGGACATCTC	0.498													T	180849282	C	T	180849282	3	4	158	1	0	0	0	0	1	0	0	0	17448	759	27	1	1933	1	XPR1	1	180849282	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	613639	180849282	68401339	230	84011											
STX6	10228	broad.mit.edu	37	chr1	180974585	180974585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccctgggcagtgttgactGctttctgtacctctctgtaa	9	11	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:180974585G>A	uc010pnq.1	-	2	287	c.50C>T	c.(49-51)GCA>GTA	p.A17V	STX6_uc001goo.2_Missense_Mutation_p.A17V|STX6_uc010pnr.1_Intron	NM_005819	NP_005810	O43752	STX6_HUMAN	syntaxin 6	17	Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			ovary(1)	1						AGTGTTGACTGCTTTCTGTAC	0.463													A	180974585	G	A	180974585	3	1	158	1	0	0	0	0	1	0	0	0	15348	1319	46	2	745	2	STX6	1	180974585	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	125303	180974585	68276036	231	84012											
MR1	3140	broad.mit.edu	37	chr1	181019368	181019368	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attggctggaagaagaatgtAttgcctggctaaagagattc	12	5	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:181019368A>G	uc001goq.1	+	3	555	c.550A>G	c.(550-552)ATT>GTT	p.I184V	MR1_uc001gop.2_Missense_Mutation_p.I184V|MR1_uc001gor.1_Missense_Mutation_p.I139V|MR1_uc001gos.1_Missense_Mutation_p.I184V|MR1_uc010pns.1_Missense_Mutation_p.I184V	NM_001531	NP_001522	Q95460	HMR1_HUMAN	major histocompatibility complex, class	184	Extracellular (Potential).|Ligand-binding.|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			skin(1)	1						AGAAGAATGTATTGCCTGGCT	0.468													G	181019368	A	G	181019368	3	3	158	1	0	0	0	0	1	0	0	0	9752	449	16	3	560	3	MR1	1	181019368	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	44783	181019368	68231253	232	84013											
CACNA1E	777	broad.mit.edu	37	chr1	181690989	181690989	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtctgccatctacttcatTgtgctcaccttgtttggcaa	8	11	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:181690989T>C	uc001gow.2	+	16	2217	c.2052T>C	c.(2050-2052)ATT>ATC	p.I684I	CACNA1E_uc009wxs.2_Silent_p.I591I	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	684	Helical; Name=S6 of repeat II.|II.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TCTACTTCATTGTGCTCACCT	0.532													C	181690989	T	C	181690989	2	2	158	1	0	0	0	0	0	0	0	1	2542	1800	63	3		3	CACNA1E	1	181690989	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	671621	181690989	67559632	233	84014											
CACNA1E	777	broad.mit.edu	37	chr1	181727162	181727162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacacaccttccagtaccGcgtgtggcactttgtggtgt	11	12	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:181727162G>A	uc001gow.2	+	31	4574	c.4409G>A	c.(4408-4410)CGC>CAC	p.R1470H	CACNA1E_uc009wxs.2_Missense_Mutation_p.R1358H|CACNA1E_uc001gox.1_Missense_Mutation_p.R696H|CACNA1E_uc009wxt.2_Missense_Mutation_p.R696H	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1470	IV.|Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TTCCAGTACCGCGTGTGGCAC	0.527													A	181727162	G	A	181727162	3	1	158	1	0	0	0	0	1	0	0	0	2542	1087	38	1	4531	1	CACNA1E	1	181727162	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	36173	181727162	67523459	234	84015											
LAMC1	3915	broad.mit.edu	37	chr1	183072489	183072489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttgacatcacctatgtgCgtctcaagttccacaccagc	6	14	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:183072489C>T	uc001gpy.3	+	2	702	c.445C>T	c.(445-447)CGT>TGT	p.R149C	LAMC1_uc001gpx.2_Missense_Mutation_p.R149C	NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	149	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCTATGTGCGTCTCAAGTT	0.488													T	183072489	C	T	183072489	3	4	158	1	0	0	0	0	1	0	0	0	8614	768	27	1	451	1	LAMC1	1	183072489	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1345327	183072489	66178132	235	84016											
LAMC1	3915	broad.mit.edu	37	chr1	183094532	183094532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctgtcttcctgccttagCctgcaattgcaatctgtatg	7	12	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:183094532C>T	uc001gpy.3	+	15	2905	c.2648C>T	c.(2647-2649)GCC>GTC	p.A883V		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	883	Laminin EGF-like 8.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTGCCTTAGCCTGCAATTGC	0.408													T	183094532	C	T	183094532	3	4	158	1	0	0	0	0	1	0	0	0	8614	753	26	2	2706	2	LAMC1	1	183094532	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	22043	183094532	66156089	236	84017											
LAMC2	3918	broad.mit.edu	37	chr1	183195988	183195988	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagagattcagcgagactgGggccttttggcacctgtatt	13	8	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:183195988G>T	uc001gqa.2	+	9	1536	c.1222G>T	c.(1222-1224)GGG>TGG	p.G408W	LAMC2_uc001gpz.3_Missense_Mutation_p.G408W|LAMC2_uc010poa.1_Missense_Mutation_p.G108W	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	408	Laminin EGF-like 4; second part.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						AGCGAGACTGGGGCCTTTTGG	0.547													T	183195988	G	T	183195988	3	4	158	1	0	0	0	0	1	0	0	0	8615	1232	43	5	1256	5	LAMC2	1	183195988	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	101456	183195988	66054633	237	84018											
SMG7	9887	broad.mit.edu	37	chr1	183518986	183518986	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagaactcagtccctcaatgGccccccaggaaacatctctg	7	16	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:183518986G>C	uc001gqg.2	+	19	3033	c.2911G>C	c.(2911-2913)GCC>CCC	p.A971P	SMG7_uc001gqf.2_Missense_Mutation_p.A975P|SMG7_uc001gqh.2_Missense_Mutation_p.A925P|SMG7_uc001gqi.2_Missense_Mutation_p.A883P|SMG7_uc010poc.1_Missense_Mutation_p.A979P	NM_173156	NP_775179	Q92540	SMG7_HUMAN	SMG-7 homolog isoform 1	971	Ser-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TCCCTCAATGGCCCCCCAGGA	0.428													C	183518986	G	C	183518986	3	2	158	1	0	0	0	0	1	0	0	0	14798	1203	42	5	3139	5	SMG7	1	183518986	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	322998	183518986	65731635	238	84019											
C1orf25	81627	broad.mit.edu	37	chr1	185125667	185125667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacagggccggagcctgggCcagggcaggggctggggctg	23	10	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:185125667C>T	uc001grf.3	-	1	450	c.178G>A	c.(178-180)GCC>ACC	p.A60T	C1orf26_uc001grg.3_5'Flank|C1orf26_uc001grh.3_5'Flank|C1orf25_uc010pon.1_Intron	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA	60						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0						ggagcctgggccagggcaggg	0.244													T	185125667	C	T	185125667	3	4	158	1	0	0	0	0	1	0	0	0	2034	739	26	2	2083	2	C1orf25	1	185125667	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1606681	185125667	64124954	239	84020											
HMCN1	83872	broad.mit.edu	37	chr1	185959420	185959420	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttagtaaggcccagagtGtttggagatcaacgaggact	12	6	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:185959420G>A	uc001grq.1	+	22	3451	c.3222G>A	c.(3220-3222)GTG>GTA	p.V1074V	HMCN1_uc001grr.1_Silent_p.V415V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1074	Ig-like C2-type 8.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GGCCCAGAGTGTTTGGAGATC	0.413													A	185959420	G	A	185959420	2	1	158	1	0	0	0	0	0	0	0	1	7220	1364	48	4		4	HMCN1	1	185959420	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	833753	185959420	63291201	240	84021											
PRG4	10216	broad.mit.edu	37	chr1	186277954	186277954	+	Frame_Shift_Del	DEL	A	A	-													ccaaaaaacccacttctaccAaaaagccaaaaacaatgcct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:186277954delA	uc001gru.3	+	7	3154	c.3103delA	c.(3103-3105)AAAfs	p.K1035fs	PRG4_uc001grt.3_Frame_Shift_Del_p.K994fs|PRG4_uc009wyl.2_Frame_Shift_Del_p.K942fs|PRG4_uc009wym.2_Frame_Shift_Del_p.K901fs|PRG4_uc010poo.1_RNA	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	1035					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CACTTCTACCAAAAAGCCAAA	0.418													-	186277954	A	-	186277954	7	5	158	1	0	1	0	1	0	0	0	0	12481	131	5	0	3125	0	PRG4	1	186277954	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	318534	186277954	62972667	241	84022											
FAM5C	339479	broad.mit.edu	37	chr1	190067193	190067193	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taatccattgtgtttggcaaTttggcattaaacgcctgcag	9	8	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:190067193T>G	uc001gse.1	-	8	2488	c.2256A>C	c.(2254-2256)AAA>AAC	p.K752N	FAM5C_uc010pot.1_Missense_Mutation_p.K650N	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	752						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					TGTTTGGCAATTTGGCATTAA	0.408													G	190067193	T	G	190067193	3	3	158	1	0	0	0	0	1	0	0	0	5594	1490	52	5	48	5	FAM5C	1	190067193	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	3789239	190067193	59183428	242	84023											
UCHL5	51377	broad.mit.edu	37	chr1	193018904	193018904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaaaaatatcgtgtcaagtCgggagtcctgaaccacagag	10	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:193018904C>T	uc001gsm.2	-	3	349	c.218G>A	c.(217-219)CGA>CAA	p.R73Q	UCHL5_uc001gsn.2_RNA|UCHL5_uc001gso.2_Missense_Mutation_p.R73Q|UCHL5_uc010pov.1_RNA|UCHL5_uc001gsp.2_Missense_Mutation_p.R73Q|UCHL5_uc001gsq.2_Missense_Mutation_p.R73Q|UCHL5_uc010pow.1_5'UTR|UCHL5_uc010pox.1_Intron	NM_015984	NP_057068	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	73					DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|ovary(1)	3						CGTGTCAAGTCGGGAGTCCTG	0.398													T	193018904	C	T	193018904	3	4	158	1	0	0	0	0	1	0	0	0	16919	884	31	1	807	1	UCHL5	1	193018904	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2951711	193018904	56231717	243	84024											
CDC73	79577	broad.mit.edu	37	chr1	193091428	193091428	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcggggagttctcctggcCcaagaatgtgaagaccaact	11	11	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:193091428C>A	uc001gtb.2	+	1	341	c.98C>A	c.(97-99)CCC>CAC	p.P33H		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	33					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.W32fs*1(1)		parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						TTCTCCTGGCCCAAGAATGTG	0.572									Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome		OREG0014058	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	193091428	C	A	193091428	3	1	158	1	0	0	0	0	1	0	0	0	3085	623	22	5	100	5	CDC73	1	193091428	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	72524	193091428	56159193	244	84025											
CFHR5	81494	broad.mit.edu	37	chr1	196965192	196965192	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatacctgaactcgagtaCggttatgttcagccgtctgt	9	10	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:196965192C>T	uc001gts.3	+	6	959	c.831C>T	c.(829-831)TAC>TAT	p.Y277Y		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	277	Sushi 5.		Y -> N (in a patient with atypical hemolytic uremic syndrome).		complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						AACTCGAGTACGGTTATGTTC	0.353													T	196965192	C	T	196965192	2	4	158	1	0	0	0	0	0	0	0	1	3288	547	19	1		1	CFHR5	1	196965192	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	3873764	196965192	52285429	245	84026											
F13B	2165	broad.mit.edu	37	chr1	197032137	197032137	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcttttaaaagtatagtAatattgggcaattcttccat	6	5	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:197032137A>G	uc001gtt.1	-	2	159	c.115T>C	c.(115-117)TAC>CAC	p.Y39H		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	39	Sushi 1.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						AAAGTATAGTAATATTGGGCA	0.333													G	197032137	A	G	197032137	3	3	158	1	0	0	0	0	1	0	0	0	5341	362	13	3	1914	3	F13B	1	197032137	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	66945	197032137	52218484	246	84027											
ASPM	259266	broad.mit.edu	37	chr1	197073597	197073597	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttctgtcgttgttgatgtTttcttacatgtgcctgaaat	8	6	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:197073597T>C	uc001gtu.2	-	18	5041	c.4784A>G	c.(4783-4785)AAA>AGA	p.K1595R	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1595	IQ 3.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TTGTTGATGTTTTCTTACATG	0.343													C	197073597	T	C	197073597	3	2	158	1	0	0	0	0	1	0	0	0	1056	1841	64	3	5693	3	ASPM	1	197073597	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	41460	197073597	52177024	247	84028											
ASPM	259266	broad.mit.edu	37	chr1	197101439	197101439	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaccaattcgaagccacaaAggattgtaggacaacagcca	9	10	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:197101439A>C	uc001gtu.2	-	7	2720	c.2463T>G	c.(2461-2463)CCT>CCG	p.P821P	ASPM_uc001gtv.2_Silent_p.P821P|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	821					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						GAAGCCACAAAGGATTGTAGG	0.308													C	197101439	A	C	197101439	2	2	158	1	0	0	0	0	0	0	0	1	1056	59	3	5		5	ASPM	1	197101439	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	27842	197101439	52149182	248	84029											
ASPM	259266	broad.mit.edu	37	chr1	197115434	197115434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaaaggaaaggagacctgCagaagtggctgagagacagg	16	6	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:197115434C>T	uc001gtu.2	-	1	391	c.134G>A	c.(133-135)TGC>TAC	p.C45Y	ASPM_uc001gtv.2_Missense_Mutation_p.C45Y|ASPM_uc001gtw.3_5'UTR	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	45					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						AGGAGACCTGCAGAAGTGGCT	0.398													T	197115434	C	T	197115434	3	4	158	1	0	0	0	0	1	0	0	0	1056	710	25	2	10411	2	ASPM	1	197115434	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	13995	197115434	52135187	249	84030											
PTPRC	5788	broad.mit.edu	37	chr1	198701676	198701676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaactacataaatgccagCtatattgatgtgagtaaaaa	6	6	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:198701676C>T	uc001gur.1	+	20	2307	c.2127C>T	c.(2125-2127)AGC>AGT	p.S709S	PTPRC_uc001gus.1_Silent_p.S661S|PTPRC_uc001gut.1_Silent_p.S548S|PTPRC_uc009wzf.1_Silent_p.S597S|PTPRC_uc010ppg.1_Silent_p.S645S	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	709	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						TAAATGCCAGCTATATTGATG	0.284													T	198701676	C	T	198701676	2	4	158	1	0	0	0	0	0	0	0	1	12797	796	28	2		2	PTPRC	1	198701676	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1586242	198701676	50548945	250	84031											
GPR25	2848	broad.mit.edu	37	chr1	200842454	200842456	+	In_Frame_Del	DEL	GCG	GCG	-													tcacgctgccgctgtgggccGcggcggcggcgctaggcggc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:200842454_200842456delGCG	uc001gvn.1	+	1	289_291	c.289_291delGCG	c.(289-291)GCGdel	p.A100del		NM_005298	NP_005289	O00155	GPR25_HUMAN	G protein-coupled receptor 25	100	Extracellular (Potential).|Poly-Ala.					integral to plasma membrane				ovary(1)	1						GCTGTGGGCCGCGGCGGCGGCGC	0.645													-	200842456	GCG	-	200842454	7	5	158	1	0	1	0	1	0	0	0	0	6683	1087	38	0	291	0	GPR25	1	200842454	In_Frame_Del	DEL	GCG	TCGA-CD-A4MG-01A-11D-A25D-08	2140778	200842454	48408167	251	84032											
KIF21B	23046	broad.mit.edu	37	chr1	200956152	200956152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccgggtaggcagactgaCggtgcgcgagaccctgtccc	15	15	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:200956152C>T	uc001gvs.1	-	25	3903	c.3586G>A	c.(3586-3588)GTC>ATC	p.V1196I	KIF21B_uc001gvr.1_Missense_Mutation_p.V1196I|KIF21B_uc009wzl.1_Missense_Mutation_p.V1196I|KIF21B_uc010ppn.1_Missense_Mutation_p.V1196I	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	1196					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						GGCAGACTGACGGTGCGCGAG	0.592													T	200956152	C	T	200956152	3	4	158	1	0	0	0	0	1	0	0	0	8289	536	19	1	1328	1	KIF21B	1	200956152	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	113698	200956152	48294469	252	84033											
NAV1	89796	broad.mit.edu	37	chr1	201777113	201777113	+	Frame_Shift_Del	DEL	A	A	-													ttcaacaaagcgttcagtatAaaaaaggggcccaagtcagc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:201777112_201777112TA>T	uc021phi.1	+	17	4027	c.3680_3680TA>T	c.(3679-3681)atafs	p.I1227fs	NAV1_uc001gwu.3_Frame_Shift_Del_p.I1224fs|NAV1_uc001gwx.3_Frame_Shift_Del_p.I833fs|MIR1231_uc021phj.1_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1227					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GCGTTCAGTATAAAAAAGGGG	0.493													-	201777113	A	-	201777113	7	5	158	1	0	1	0	1	0	0	0	0	10183	352	13	0	3808	0	NAV1	1	201777113	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	820961	201777113	47473508	253	84034											
IPO9	55705	broad.mit.edu	37	chr1	201836035	201836035	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgaattcacagcaagcatGgaaagcaaaatctgcccctt	7	13	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:201836035G>T	uc001gwz.2	+	15	1853	c.1803G>T	c.(1801-1803)ATG>ATT	p.M601I		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	601					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						CAGCAAGCATGGAAAGCAAAA	0.488													T	201836035	G	T	201836035	3	4	158	1	0	0	0	0	1	0	0	0	7799	1348	47	5	1861	5	IPO9	1	201836035	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	58922	201836035	47414586	254	84035											
GPR37L1	9283	broad.mit.edu	37	chr1	202097427	202097427	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgccagaccctggacctcCtgggcctcatcaaccagttc	8	19	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:202097427C>A	uc001gxj.2	+	2	1252	c.1189C>A	c.(1189-1191)CTG>ATG	p.L397M		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1 precursor	397	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2						CCTGGACCTCCTGGGCCTCAT	0.622													A	202097427	C	A	202097427	3	1	158	1	0	0	0	0	1	0	0	0	6692	680	24	5	1195	5	GPR37L1	1	202097427	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	261392	202097427	47153194	255	84036											
SYT2	127833	broad.mit.edu	37	chr1	202573722	202573722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggagcccagcaaccacaGcaatggcgatcagtgcccag	12	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:202573722G>A	uc001gye.2	-	3	399	c.206C>T	c.(205-207)GCT>GTT	p.A69V	SYT2_uc010pqb.1_Missense_Mutation_p.A69V|SYT2_uc009xaf.2_Intron	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	synaptotagmin II	69	Helical; (Potential).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	AGCAACCACAGCAATGGCGAT	0.507													A	202573722	G	A	202573722	3	1	158	1	0	0	0	0	1	0	0	0	15471	971	34	2	1081	2	SYT2	1	202573722	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	476295	202573722	46676899	256	84037											
KDM5B	10765	broad.mit.edu	37	chr1	202711578	202711578	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacagctgtgttacaaactGccggagctcattcactgtca	8	11	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:202711578G>A	uc001gyf.2	-	18	2646	c.2530C>T	c.(2530-2532)CAG>TAG	p.Q844*	KDM5B_uc009xag.2_Nonsense_Mutation_p.Q880*|KDM5B_uc001gyg.1_Nonsense_Mutation_p.Q686*	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	844					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						GTTACAAACTGCCGGAGCTCA	0.433													A	202711578	G	A	202711578	4	1	158	1	0	0	0	0	0	1	0	0	8134	1328	46	2	2144	2	KDM5B	1	202711578	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	137856	202711578	46539043	257	84038											
KLHL12	59349	broad.mit.edu	37	chr1	202862461	202862461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttgtccaggaatcagtgcGaatgttgtatgcttcaacgg	12	7	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:202862461G>A	uc001gyo.1	-	11	1686	c.1486C>T	c.(1486-1488)CGC>TGC	p.R496C	KLHL12_uc001gym.1_Intron|KLHL12_uc001gyn.1_Intron|KLHL12_uc010pqc.1_Missense_Mutation_p.R534C|KLHL12_uc009xah.1_Missense_Mutation_p.R395C	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	kelch-like 12	496	Interaction with DVL3.|Kelch 5.				Wnt receptor signaling pathway		protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAATCAGTGCGAATGTTGTAT	0.522													A	202862461	G	A	202862461	3	1	158	1	0	0	0	0	1	0	0	0	8368	1058	37	1	228	1	KLHL12	1	202862461	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	150883	202862461	46388160	258	84039											
CYB5R1	51706	broad.mit.edu	37	chr1	202934505	202934505	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacaggtcattaccttttcCagtgtaagtgagcaacccgc	9	11	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:202934505C>A	uc001gyt.2	-	5	540	c.469G>T	c.(469-471)GGA>TGA	p.G157*	CYB5R1_uc010pqe.1_RNA	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	157	FAD (By similarity).				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.141)			TTACCTTTTCCAGTGTAAGTG	0.507													A	202934505	C	A	202934505	4	1	158	1	0	0	0	0	0	1	0	0	4126	603	21	5	468	5	CYB5R1	1	202934505	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	72044	202934505	46316116	259	84040											
ATP2B4	493	broad.mit.edu	37	chr1	203681119	203681119	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattgccaaatgcaaacaagCtggcattactgtcagaatgg	9	8	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:203681119C>A	uc001gzw.2	+	13	2947	c.2063C>A	c.(2062-2064)GCT>GAT	p.A688D	ATP2B4_uc001gzv.2_Missense_Mutation_p.A688D|ATP2B4_uc009xaq.2_Missense_Mutation_p.A688D	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	688	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCAAACAAGCTGGCATTACT	0.517													A	203681119	C	A	203681119	3	1	158	1	0	0	0	0	1	0	0	0	1142	797	28	5	2109	5	ATP2B4	1	203681119	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	746614	203681119	45569502	260	84041											
ZC3H11A	9877	broad.mit.edu	37	chr1	203816515	203816515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctggctgaaaaaaaacatCggcagcaggaagcagagaga	12	8	0	3	rs4019824		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:203816515C>T	uc001hac.2	+	15	1862	c.1246C>T	c.(1246-1248)CGG>TGG	p.R416W	ZC3H11A_uc001had.2_Missense_Mutation_p.R416W|ZC3H11A_uc001hae.2_Missense_Mutation_p.R416W|ZC3H11A_uc001haf.2_Missense_Mutation_p.R416W|ZC3H11A_uc010pqm.1_Missense_Mutation_p.R362W|ZC3H11A_uc001hag.1_Missense_Mutation_p.R416W	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	416	Potential.						nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAAAAAACATCGGCAGCAGGA	0.398													T	203816515	C	T	203816515	3	4	158	1	0	0	0	0	1	0	0	0	17557	875	31	1	1288	1	ZC3H11A	1	203816515	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	135396	203816515	45434106	261	84042											
PIK3C2B	5287	broad.mit.edu	37	chr1	204416709	204416709	+	Splice_Site	DEL	G	G	-													cgaggtggggaagtcaatctGggggatgagatcagggatgt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:204416708_204416708TG>T	uc001haw.3	-	16	2826	c.2347_splice	c.e16-1	p.I783_splice	PIK3C2B_uc010pqv.2_Splice_Site_p.I783_splice	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	783					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAAGTCAATCTGGGGGATGAG	0.577													-	204416709	G	-	204416709	8	5	158	1	0	1	0	1	0	0	1	0	11910	1363	47	0		0	PIK3C2B	1	204416709	Splice_Site	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	600194	204416709	44833912	262	84043											
CNTN2	6900	broad.mit.edu	37	chr1	205038986	205038986	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagtaccagaacggagacgGcttcggctacctgctgtcct	13	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:205038986G>T	uc001hbr.2	+	18	2497	c.2228G>T	c.(2227-2229)GGC>GTC	p.G743V	CNTN2_uc001hbq.1_Missense_Mutation_p.G634V|CNTN2_uc001hbs.2_Missense_Mutation_p.G531V	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	743	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AACGGAGACGGCTTCGGCTAC	0.667													T	205038986	G	T	205038986	3	4	158	1	0	0	0	0	1	0	0	0	3641	1203	42	5	2294	5	CNTN2	1	205038986	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	622277	205038986	44211635	263	84044											
LEMD1	93273	broad.mit.edu	37	chr1	205388357	205388357	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtacagcttatggcggtaCcttcgctgtcatcactgtcc	9	13	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:205388357C>T	uc001hcj.1	-	3	307	c.205_splice	c.e3+1	p.E69_splice	LEMD1_uc001hci.1_Splice_Site_p.G69_splice|LEMD1_uc001hck.1_Splice_Site|LEMD1_uc001hcl.1_Intron|LEMD1_uc001hcm.1_Intron|LEMD1_uc001hcn.1_Intron			Q68G75	LEMD1_HUMAN	RecName: Full=LEM domain-containing protein 1;          Short=LEMP-1; AltName: Full=Cancer/testis antigen 50;          Short=CT50;							integral to membrane|nuclear envelope					0	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			TATGGCGGTACCTTCGCTGTC	0.483													T	205388357	C	T	205388357	5	4	158	1	0	0	0	0	0	0	1	0	8719	521	18	4	128	4	LEMD1	1	205388357	Splice_Site	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	349371	205388357	43862264	264	84045											
IKBKE	9641	broad.mit.edu	37	chr1	206652330	206652330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacaagcagaccagtgtggCcccccgacaccaggagtacc	11	16	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:206652330C>T	uc001hdz.1	+	10	1405	c.1037C>T	c.(1036-1038)GCC>GTC	p.A346V	IKBKE_uc009xbv.1_Missense_Mutation_p.A346V|IKBKE_uc001hea.1_Missense_Mutation_p.A261V	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	346					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)					ACCAGTGTGGCCCCCCGACAC	0.637													T	206652330	C	T	206652330	3	4	158	1	0	0	0	0	1	0	0	0	7612	739	26	2	1067	2	IKBKE	1	206652330	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1263973	206652330	42598291	265	84046											
RASSF5	83593	broad.mit.edu	37	chr1	206757767	206757767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaagtgcatctgaaactcCggcggcctgtgacggtgcct	12	12	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:206757767C>T	uc001hed.2	+	4	796	c.739C>T	c.(739-741)CGG>TGG	p.R247W	RASSF5_uc001hec.1_Missense_Mutation_p.R247W|RASSF5_uc001hee.2_Missense_Mutation_p.R247W|RASSF5_uc001hef.2_Missense_Mutation_p.R94W|RASSF5_uc001heg.1_Missense_Mutation_p.R20W	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family 5	247					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			ovary(1)	1	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TCTGAAACTCCGGCGGCCTGT	0.612											OREG0014174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	206757767	C	T	206757767	3	4	158	1	0	0	0	0	1	0	0	0	13089	643	23	1	877	1	RASSF5	1	206757767	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	105437	206757767	42492854	266	84047											
C4BPB	725	broad.mit.edu	37	chr1	207263776	207263776	+	Frame_Shift_Del	DEL	T	T	-													cctggtaggaaagaagacccTtttttgcaatgcctctaagg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:207263776delT	uc001hfj.2	+	3	312	c.182delT	c.(181-183)CTTfs	p.L61fs	C4BPB_uc001hfi.2_Frame_Shift_Del_p.L60fs|C4BPB_uc001hfk.2_Frame_Shift_Del_p.L60fs|C4BPB_uc001hfl.2_Frame_Shift_Del_p.L61fs|C4BPB_uc009xcd.2_Frame_Shift_Del_p.L51fs|C4BPB_uc001hfm.2_Frame_Shift_Del_p.L61fs|C4BPB_uc010pse.1_Frame_Shift_Del_p.L51fs	NM_001017365	NP_001017365	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	61	Sushi 1.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				ovary(1)	1						AAGAAGACCCTTTTTTGCAAT	0.443													-	207263776	T	-	207263776	7	5	158	1	0	1	0	1	0	0	0	0	2250	1609	56	0	188	0	C4BPB	1	207263776	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	506009	207263776	41986845	267	84048											
CR1	1378	broad.mit.edu	37	chr1	207700217	207700217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacgacctcagaggggctGcgtctatgcgctgcacaccc	12	15	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:207700217G>A	uc001hfy.2	+	6	1146	c.1006G>A	c.(1006-1008)GCG>ACG	p.A336T	CR1_uc009xcl.1_Intron|CR1_uc001hfx.2_Missense_Mutation_p.A336T|CR1_uc009xcj.1_Intron|CR1_uc009xck.1_Missense_Mutation_p.A336T|CR1_uc010psh.1_5'Flank	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	336	Sushi 5.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						CAGAGGGGCTGCGTCTATGCG	0.557													A	207700217	G	A	207700217	3	1	158	1	0	0	0	0	1	0	0	0	3840	1319	46	2	1028	2	CR1	1	207700217	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	436441	207700217	41550404	268	84049											
PLXNA2	5362	broad.mit.edu	37	chr1	208227819	208227820	+	Frame_Shift_Ins	INS	-	-	A													aactctggcttacactcgccINSaatacacaggcgtactggcc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:208227819_208227820insA	uc001hgz.2	-	14	3560_3561	c.2802_2803insT	c.(2800-2805)ATTGGCfs	p.I934fs		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	934_935	Extracellular (Potential).|IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTACACTCGCCAATACACAGGC	0.594													A	208227820	-	A	208227819	7	5	158	1	0	1	1	0	0	0	0	0	12120	594	21	0	2957	0	PLXNA2	1	208227819	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	527602	208227819	41022802	269	84050	418	2									
PLXNA2	5362	broad.mit.edu	37	chr1	208227820	208227821	+	Frame_Shift_Ins	INS	-	-	A													actctggcttacactcgccaINSatacacaggcgtactggccc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:208227819_208227820C>CA	uc001hgz.3	-	13	3560_3561	c.2802_2803G>TG	c.(2800-2805)attggcfs	p.I934fs		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	934	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTACACTCGCCAATACACAGGC	0.594													A	208227821	-	A	208227820	7	5	158	1	0	1	1	0	0	0	0	0	12120	126	5	0	2958	0	PLXNA2	1	208227820	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	1	208227820	41022801	270	84051	418	2									
PPP2R5A	5525	broad.mit.edu	37	chr1	212506858	212506858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcagtgctaacatcttccGtacacttcctccaagtgata	6	12	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:212506858G>A	uc001hjb.2	+	3	972	c.398G>A	c.(397-399)CGT>CAT	p.R133H	PPP2R5A_uc010ptd.1_Missense_Mutation_p.R74H	NM_006243	NP_006234	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B	133					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		AACATCTTCCGTACACTTCCT	0.373													A	212506858	G	A	212506858	3	1	158	1	0	0	0	0	1	0	0	0	12392	1145	40	1	408	1	PPP2R5A	1	212506858	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4279038	212506858	36743763	271	84052											
TATDN3	128387	broad.mit.edu	37	chr1	212977736	212977736	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaagacaagtcctaatcagAcagatccagttagccaaaag	7	10	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:212977736A>T	uc001hjo.2	+	6	490	c.396A>T	c.(394-396)AGA>AGT	p.R132S	TATDN3_uc010ptj.1_Missense_Mutation_p.R132S|TATDN3_uc010ptk.1_Missense_Mutation_p.R132S|TATDN3_uc001hjp.2_Missense_Mutation_p.R132S|TATDN3_uc010ptl.1_Missense_Mutation_p.R111S|TATDN3_uc010ptm.1_Missense_Mutation_p.R80S	NM_001042552	NP_001036017	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3 isoform 1	132						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		TCCTAATCAGACAGATCCAGT	0.363													T	212977736	A	T	212977736	3	4	158	1	0	0	0	0	1	0	0	0	15590	272	10	5	418	5	TATDN3	1	212977736	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	470878	212977736	36272885	272	84053											
PTPN14	5784	broad.mit.edu	37	chr1	214537979	214537979	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgccttccagcatgctgTtggtatggcgacggaccgac	14	11	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:214537979T>C	uc001hkk.1	-	18	3582	c.3311A>G	c.(3310-3312)AAC>AGC	p.N1104S		NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	1104	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CAGCATGCTGTTGGTATGGCG	0.562													C	214537979	T	C	214537979	3	2	158	1	0	0	0	0	1	0	0	0	12783	1725	60	3	260	3	PTPN14	1	214537979	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1560243	214537979	34712642	273	84054											
PTPN14	5784	broad.mit.edu	37	chr1	214557015	214557015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtactccatcttctccCggagcatggggatctggggc	12	13	3	0	rs142125075	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:214557015C>T	uc001hkk.1	-	13	2454	c.2183G>A	c.(2182-2184)CGG>CAG	p.R728Q	PTPN14_uc010pty.1_Missense_Mutation_p.R629Q	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	728					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CATCTTCTCCCGGAGCATGGG	0.607													T	214557015	C	T	214557015	3	4	158	1	0	0	0	0	1	0	0	0	12783	652	23	1	1408	1	PTPN14	1	214557015	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	19036	214557015	34693606	274	84055											
CENPF	1063	broad.mit.edu	37	chr1	214818826	214818827	+	Frame_Shift_Ins	INS	-	-	A													gagaattagatactatgtcaINSaaaaaaaccacggcactgga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:214818825_214818826C>CA	uc001hkm.3	+	12	6086_6087	c.5912_5913C>CA	c.(5911-5913)tcafs	p.S1971fs		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2067					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GATACTATGTCAAAAAAAACCA	0.411													A	214818827	-	A	214818826	7	5	158	1	0	1	1	0	0	0	0	0	3231	117	5	0	5959	0	CENPF	1	214818826	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	261811	214818826	34431795	275	84056											
CENPF	1063	broad.mit.edu	37	chr1	214819048	214819048	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtttggaaaaggactcacaGgcactgtctttgacaaaatg	10	7	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:214819048G>T	uc001hkm.2	+	13	6309	c.6135G>T	c.(6133-6135)CAG>CAT	p.Q2045H		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2141	Potential.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGGACTCACAGGCACTGTCTT	0.433													T	214819048	G	T	214819048	3	4	158	1	0	0	0	0	1	0	0	0	3231	991	35	5	6181	5	CENPF	1	214819048	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	222	214819048	34431573	276	84057											
USH2A	7399	broad.mit.edu	37	chr1	215853644	215853644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaaaatttctcctgcatgGtttgcagccacaacaccaat	5	12	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:215853644G>A	uc001hku.1	-	62	12528	c.12141C>T	c.(12139-12141)AAC>AAT	p.N4047N		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4047	Fibronectin type-III 25.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCCTGCATGGTTTGCAGCCA	0.423										HNSCC(13;0.011)			A	215853644	G	A	215853644	2	1	158	1	0	0	0	0	0	0	0	1	17033	1252	44	4		4	USH2A	1	215853644	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1034596	215853644	33396977	277	84058											
USH2A	7399	broad.mit.edu	37	chr1	216260158	216260158	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccattcaggatggcagaGgaacctagagaagaggagat	13	7	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:216260158G>A	uc001hku.1	-	24	5277	c.4890C>T	c.(4888-4890)TCC>TCT	p.S1630S		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1630	Laminin G-like 1.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGATGGCAGAGGAACCTAGAG	0.393										HNSCC(13;0.011)			A	216260158	G	A	216260158	2	1	158	1	0	0	0	0	0	0	0	1	17033	987	35	4		4	USH2A	1	216260158	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	406514	216260158	32990463	278	84059											
BPNT1	10380	broad.mit.edu	37	chr1	220253145	220253145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttttgagcaatagaatatGcggaggctaccaaccgcatc	9	11	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:220253145G>A	uc001hma.2	-	2	216	c.44C>T	c.(43-45)GCA>GTA	p.A15V	BPNT1_uc010pug.1_Intron|BPNT1_uc010puh.1_Missense_Mutation_p.A15V|BPNT1_uc001hmb.3_Missense_Mutation_p.A15V	NM_006085	NP_006076	O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	15					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0558)		AATAGAATATGCGGAGGCTAC	0.413													A	220253145	G	A	220253145	3	1	158	1	0	0	0	0	1	0	0	0	1494	1319	46	2	914	2	BPNT1	1	220253145	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3992987	220253145	28997476	279	84060											
HHIPL2	79802	broad.mit.edu	37	chr1	222717093	222717093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcttgaggtccaggaaggGttgctccaggcgactcccat	13	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:222717093G>A	uc001hnh.1	-	2	818	c.760C>T	c.(760-762)CCC>TCC	p.P254S		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	254				P -> S (in Ref. 4; AAH07638).	carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		TCCAGGAAGGGTTGCTCCAGG	0.582													A	222717093	G	A	222717093	3	1	158	1	0	0	0	0	1	0	0	0	7094	1261	44	4	1446	4	HHIPL2	1	222717093	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2463948	222717093	26533528	280	84061											
MIA3	375056	broad.mit.edu	37	chr1	222806530	222806530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccgaagagccggcaagtgTcacacctttggaaaacgcaa	11	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:222806530T>C	uc001hnl.2	+	6	3425	c.3416T>C	c.(3415-3417)GTC>GCC	p.V1139A	MIA3_uc009xea.1_Missense_Mutation_p.V975A	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1139	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		CCGGCAAGTGTCACACCTTTG	0.388													C	222806530	T	C	222806530	3	2	158	1	0	0	0	0	1	0	0	0	9565	1667	58	3	3438	3	MIA3	1	222806530	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	89437	222806530	26444091	281	84062											
DISP1	84976	broad.mit.edu	37	chr1	223164985	223164985	+	Frame_Shift_Del	DEL	A	A	-													aatatgcagatgaacaagccAaaaggtaatcaattatttat							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:223164984_223164984CA>C	uc001hnu.2	+	6	1112	c.786_786CA>C	c.(784-786)gccfs	p.A262fs		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	262					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ATGAACAAGCCAAAAGGTAAT	0.284													-	223164985	A	-	223164985	7	5	158	1	0	1	0	1	0	0	0	0	4539	131	5	0	801	0	DISP1	1	223164985	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	358455	223164985	26085636	282	84063											
FBXO28	23219	broad.mit.edu	37	chr1	224318241	224318241	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttctgaaagtggagaggtAccataatctatgtcagaaac	9	6	3	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:224318241A>G	uc001hoh.2	+	2	376	c.335A>G	c.(334-336)TAC>TGC	p.Y112C	FBXO28_uc009xef.2_Missense_Mutation_p.Y112C|FBXO28_uc010pvc.1_5'UTR	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	F-box protein 28 isoform a	112										ovary(2)|kidney(2)|lung(1)	5	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		GTGGAGAGGTACCATAATCTA	0.378													G	224318241	A	G	224318241	3	3	158	1	0	0	0	0	1	0	0	0	5738	391	14	3	341	3	FBXO28	1	224318241	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1153256	224318241	24932380	283	84064											
NVL	4931	broad.mit.edu	37	chr1	224488264	224488264	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttagtcattaactgactcacCacagcttgctcaaatagttc	5	11	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:224488264C>A	uc001hok.2	-	10	1105	c.1062G>T	c.(1060-1062)GTG>GTT	p.V354V	NVL_uc001hol.2_Silent_p.V248V|NVL_uc010pvd.1_Silent_p.V263V|NVL_uc010pve.1_Silent_p.V165V|NVL_uc010pvf.1_RNA	NM_002533	NP_002524	O15381	NVL_HUMAN	nuclear VCP-like isoform 1	354						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			skin(2)	2				GBM - Glioblastoma multiforme(131;0.00501)		ACTGACTCACCACAGCTTGCT	0.448													A	224488264	C	A	224488264	2	1	158	1	0	0	0	0	0	0	0	1	10780	608	21	5		5	NVL	1	224488264	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	170023	224488264	24762357	284	84065											
EPHX1	2052	broad.mit.edu	37	chr1	226027006	226027006	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacattcaaggaggggactgGgggtccctgatctgcactaa	13	9	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:226027006G>T	uc001hpk.2	+	5	761	c.681G>T	c.(679-681)TGG>TGT	p.W227C	EPHX1_uc001hpl.2_Missense_Mutation_p.W227C	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	epoxide hydrolase 1	227					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			ovary(3)|lung(1)	4	Breast(184;0.197)					GAGGGGACTGGGGGTCCCTGA	0.478													T	226027006	G	T	226027006	3	4	158	1	0	0	0	0	1	0	0	0	5179	1241	43	5	695	5	EPHX1	1	226027006	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1538742	226027006	23223615	285	84066											
PYCR2	29920	broad.mit.edu	37	chr1	226109705	226109705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtggcgtacactgtagcGccttcctgcactaccacagg	10	16	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:226109705G>A	uc001hpq.2	-	4	548	c.393C>T	c.(391-393)GGC>GGT	p.G131G	LEFTY1_uc010pvj.1_Intron|PYCR2_uc001hpp.2_Silent_p.G95G|PYCR2_uc001hpr.2_Silent_p.G84G|PYCR2_uc001hps.1_Silent_p.G84G	NM_013328	NP_037460	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member	131					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity				0	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	ACACTGTAGCGCCTTCCTGCA	0.602													A	226109705	G	A	226109705	2	1	158	1	0	0	0	0	0	0	0	1	12856	1074	38	1		1	PYCR2	1	226109705	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	82699	226109705	23140916	286	84067											
SNAP47	116841	broad.mit.edu	37	chr1	227946918	227946918	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgggttggaaatacaTgactccagttctttgctcat	10	8	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:227946918T>C	uc001hrf.2	+	3	1269	c.855T>C	c.(853-855)CAT>CAC	p.H285H	SNAP47_uc001hqz.2_Silent_p.H240H|SNAP47_uc001hra.2_Silent_p.H43H|SNAP47_uc001hrd.2_Silent_p.H285H|SNAP47_uc001hre.2_Silent_p.H43H|SNAP47_uc001hrg.1_Silent_p.H240H	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	285						endomembrane system|membrane|perinuclear region of cytoplasm				ovary(1)	1						TGGAAATACATGACTCCAGTT	0.463													C	227946918	T	C	227946918	2	2	158	1	0	0	0	0	0	0	0	1	14832	1461	51	3		3	SNAP47	1	227946918	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1837213	227946918	21303703	287	84068											
WNT9A	7483	broad.mit.edu	37	chr1	228109533	228109533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagatggcacctgcctcgcCggcagcttcattggtggtgc	15	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:228109533C>T	uc001hri.2	-	4	872	c.784G>A	c.(784-786)GGC>AGC	p.G262S		NM_003395	NP_003386	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family,	262					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|pancreas(1)	2		Prostate(94;0.0405)				CCTGCCTCGCCGGCAGCTTCA	0.662													T	228109533	C	T	228109533	3	4	158	1	0	0	0	0	1	0	0	0	17395	652	23	1	317	1	WNT9A	1	228109533	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	162615	228109533	21141088	288	84069											
WNT3A	89780	broad.mit.edu	37	chr1	228246907	228246907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctacttcaaggtgcccaCggagcgcgacctggtctact	10	15	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:228246907C>T	uc001hrq.1	+	4	878	c.800C>T	c.(799-801)ACG>ATG	p.T267M	WNT3A_uc001hrp.1_Missense_Mutation_p.T267M	NM_033131	NP_149122	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family,	267					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			ovary(1)	1		Prostate(94;0.0405)				AAGGTGCCCACGGAGCGCGAC	0.672													T	228246907	C	T	228246907	3	4	158	1	0	0	0	0	1	0	0	0	17386	536	19	1	814	1	WNT3A	1	228246907	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	137374	228246907	21003714	289	84070											
OBSCN	84033	broad.mit.edu	37	chr1	228464274	228464274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggactcgtgacggtctgcGgttccagcaggggcccacgt	15	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:228464274G>A	uc009xez.1	+	22	6388	c.6344G>A	c.(6343-6345)CGG>CAG	p.R2115Q	OBSCN_uc001hsn.2_Missense_Mutation_p.R2115Q|OBSCN_uc001hsp.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2115	Ig-like 21.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GACGGTCTGCGGTTCCAGCAG	0.677													A	228464274	G	A	228464274	3	1	158	1	0	0	0	0	1	0	0	0	10812	1116	39	1	6426	1	OBSCN	1	228464274	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	217367	228464274	20786347	290	84071											
OBSCN	84033	broad.mit.edu	37	chr1	228503673	228503673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgctggacgacgaacccGtgcacacctcggagaacgcc	13	15	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:228503673G>A	uc009xez.1	+	50	13182	c.13138G>A	c.(13138-13140)GTG>ATG	p.V4380M	OBSCN_uc001hsn.2_Missense_Mutation_p.V4380M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4380	Ig-like 45.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CGACGAACCCGTGCACACCTC	0.667													A	228503673	G	A	228503673	3	1	158	1	0	0	0	0	1	0	0	0	10812	1145	40	1	13332	1	OBSCN	1	228503673	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	39399	228503673	20746948	291	84072											
HIST3H3	8290	broad.mit.edu	37	chr1	228612856	228612857	+	In_Frame_Ins	INS	-	-	CTT													ggattagcagctcagtggacINSttctggtagcggcggatctc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:228612855_228612856A>ACTT	uc001hsx.1	-	0	171_172	c.171_172T>AAGT	c.(169-174)aagtcc>aaAAGTcc	p.57_58KS>KS		NM_003493	NP_003484	Q16695	H31T_HUMAN	Homo sapiens histone cluster 3, H3 (HIST3H3), mRNA.	57					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				AGCTCAGTGGACTTCTGGTAGC	0.649													CTT	228612857	-	CTT	228612856	7	5	158	1	0	1	1	0	0	0	0	0	7184	564	20	0	243	0	HIST3H3	1	228612856	In_Frame_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	109183	228612856	20637765	292	84073											
GALNT2	2590	broad.mit.edu	37	chr1	230379077	230379077	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcgctcacgggttcggggGgccgatgctgcccaagccaa	15	13	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:230379077G>T	uc010pwa.1	+	7	705	c.633G>T	c.(631-633)GGG>GGT	p.G211G	GALNT2_uc010pvy.1_Silent_p.G173G|GALNT2_uc010pvz.1_RNA	NM_004481	NP_004472	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	211	Lumenal (Potential).|Catalytic subdomain A.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGGTTCGGGGGGCCGATGCTG	0.637													T	230379077	G	T	230379077	2	4	158	1	0	0	0	0	0	0	0	1	6213	1219	43	5		5	GALNT2	1	230379077	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1766221	230379077	18871544	293	84074											
PGBD5	79605	broad.mit.edu	37	chr1	230486741	230486741	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaagaacattgtctgaccCagaggctgaatttccgcttt	10	9	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:230486741C>T	uc010pwb.1	-	3	650	c.650G>A	c.(649-651)TGG>TAG	p.W217*	PGBD5_uc001htv.2_Nonsense_Mutation_p.W316*	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	217						integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TTGTCTGACCCAGAGGCTGAA	0.567													T	230486741	C	T	230486741	4	4	158	1	0	0	0	0	0	1	0	0	11784	595	21	4	737	4	PGBD5	1	230486741	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	107664	230486741	18763880	294	84075											
AGT	183	broad.mit.edu	37	chr1	230839055	230839056	+	Frame_Shift_Ins	INS	-	-	A													tctcatccgcttcaagctcaINSaaaaaaatgctgttcagcac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:230839054_230839055C>CA	uc001hty.4	-	4	1798_1799	c.1290_1291G>TG	c.(1288-1293)tttgagfs	p.F430fs	AGT_uc009xff.3_Frame_Shift_Ins_p.F402fs	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	430					G-protein signaling, coupled to cGMP nucleotide second messenger|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|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|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 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			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	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)	GCTTCAAGCTCAAAAAAAATGC	0.559													A	230839056	-	A	230839055	7	5	158	1	0	1	1	0	0	0	0	0	399	127	5	0	171	0	AGT	1	230839055	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	352314	230839055	18411566	295	84076											
TTC13	79573	broad.mit.edu	37	chr1	231060677	231060677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcgagttggtccatgtaCgctgcacggcttgcatgacc	11	12	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:231060677C>T	uc001huf.3	-	14	1662	c.1631G>A	c.(1630-1632)CGT>CAT	p.R544H	TTC13_uc009xfi.2_Missense_Mutation_p.R491H|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.R491H|TTC13_uc009xfk.1_Missense_Mutation_p.R434H	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	544							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		GGTCCATGTACGCTGCACGGC	0.463													T	231060677	C	T	231060677	3	4	158	1	0	0	0	0	1	0	0	0	16677	536	19	1	991	1	TTC13	1	231060677	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	221622	231060677	18189944	296	84077											
SIPA1L2	57568	broad.mit.edu	37	chr1	232649623	232649623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcccatagaagaatttgCggtaataataggccccaagg	9	9	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:232649623C>T	uc001hvg.2	-	1	1621	c.1463G>A	c.(1462-1464)CGC>CAC	p.R488H		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	488					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAAGAATTTGCGGTAATAATA	0.453													T	232649623	C	T	232649623	3	4	158	1	0	0	0	0	1	0	0	0	14330	768	27	1	3789	1	SIPA1L2	1	232649623	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1588946	232649623	16600998	297	84078											
PCNXL2	80003	broad.mit.edu	37	chr1	233363000	233363000	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taatgccagcaaggtcagtcGatcataccagactttaatcc	7	11	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:233363000G>A	uc001hvl.2	-	10	2711	c.2476C>T	c.(2476-2478)CGA>TGA	p.R826*	PCNXL2_uc009xfu.2_Intron|PCNXL2_uc009xfv.1_Intron|PCNXL2_uc001hvq.1_Nonsense_Mutation_p.R125*	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	826						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				AAGGTCAGTCGATCATACCAG	0.473													A	233363000	G	A	233363000	4	1	158	1	0	0	0	0	0	1	0	0	11592	1066	37	1	4037	1	PCNXL2	1	233363000	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	713377	233363000	15887621	298	84079											
B3GALNT2	148789	broad.mit.edu	37	chr1	235618966	235618966	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagtcatcatctgtcttcagCaacaaattgaagctcgttgt	7	10	5	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:235618966C>G	uc001hxc.2	-	9	1285	c.1056G>C	c.(1054-1056)TTG>TTC	p.L352F		NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	352	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			breast(1)	1	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CTGTCTTCAGCAACAAATTGA	0.418													G	235618966	C	G	235618966	3	3	158	1	0	0	0	0	1	0	0	0	1246	709	25	5	462	5	B3GALNT2	1	235618966	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2255966	235618966	13631655	299	84080											
HEATR1	55127	broad.mit.edu	37	chr1	236721732	236721732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagctttaaggtatacaatGctgtctgtctgttgattgct	9	6	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:236721732G>A	uc001hyd.1	-	36	5134	c.5009C>T	c.(5008-5010)GCA>GTA	p.A1670V	HEATR1_uc009xgh.1_Missense_Mutation_p.A832V	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1670					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGTATACAATGCTGTCTGTCT	0.433													A	236721732	G	A	236721732	3	1	158	1	0	0	0	0	1	0	0	0	7027	1319	46	2	1465	2	HEATR1	1	236721732	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1102766	236721732	12528889	300	84081											
HEATR1	55127	broad.mit.edu	37	chr1	236767430	236767430	+	Splice_Site	DEL	A	A	-													gagttttaatgacacgggctAaaaaaacgtaagcactttga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:236767429_236767429TA>T	uc001hyd.2	-	2	121	c.-31_splice	c.e2-1		HEATR1_uc001hye.2_Splice_Site	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.						rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGACACGGGCTAAAAAAACGT	0.473													-	236767430	A	-	236767430	8	5	158	1	0	1	0	1	0	0	1	0	7027	377	13	0		0	HEATR1	1	236767430	Splice_Site	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	45698	236767430	12483191	301	84082											
ACTN2	88	broad.mit.edu	37	chr1	236902795	236902795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagctgcggatcagcaaccGtcctgccttcatgccctccg	9	17	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:236902795G>A	uc001hyf.2	+	10	1274	c.1070G>A	c.(1069-1071)CGT>CAT	p.R357H	ACTN2_uc001hyg.2_Missense_Mutation_p.R149H|ACTN2_uc009xgi.1_Missense_Mutation_p.R357H|ACTN2_uc010pxu.1_Intron|ACTN2_uc001hyh.2_Missense_Mutation_p.R45H	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	357	Spectrin 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ATCAGCAACCGTCCTGCCTTC	0.607													A	236902795	G	A	236902795	3	1	158	1	0	0	0	0	1	0	0	0	205	1145	40	1	1108	1	ACTN2	1	236902795	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	135365	236902795	12347826	302	84083											
RYR2	6262	broad.mit.edu	37	chr1	237791219	237791219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctccatcggcagtatgaCggcattgggggtcttgttcg	14	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:237791219C>T	uc001hyl.1	+	41	6399	c.6279C>T	c.(6277-6279)GAC>GAT	p.D2093D		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2093	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCAGTATGACGGCATTGGGG	0.552													T	237791219	C	T	237791219	2	4	158	1	0	0	0	0	0	0	0	1	13769	535	19	1		1	RYR2	1	237791219	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	888424	237791219	11459402	303	84084											
RYR2	6262	broad.mit.edu	37	chr1	237870335	237870335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaaatcgtggaattagccGagtccggcattcgctacact	10	10	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:237870335G>A	uc001hyl.1	+	68	9787	c.9667G>A	c.(9667-9669)GAG>AAG	p.E3223K	RYR2_uc010pxz.1_Missense_Mutation_p.E178K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3223					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAATTAGCCGAGTCCGGCAT	0.468													A	237870335	G	A	237870335	3	1	158	1	0	0	0	0	1	0	0	0	13769	1059	37	1	9937	1	RYR2	1	237870335	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	79116	237870335	11380286	304	84085											
CHRM3	1131	broad.mit.edu	37	chr1	240072104	240072104	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcagtgggtaagagcacGgccactctacctctgtcctt	9	14	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:240072104G>A	uc001hyp.2	+	5	2132	c.1353G>A	c.(1351-1353)ACG>ACA	p.T451T		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	451	Cytoplasmic (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GTAAGAGCACGGCCACTCTAC	0.517													A	240072104	G	A	240072104	2	1	158	1	0	0	0	0	0	0	0	1	3378	1103	39	1		1	CHRM3	1	240072104	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2201769	240072104	9178517	305	84086											
TFB2M	64216	broad.mit.edu	37	chr1	246711878	246711878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttttccagcggccctttcCgggtgtatatatcaaatgat	10	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:246711878C>T	uc001ibn.2	-	6	952	c.827G>A	c.(826-828)CGG>CAG	p.R276Q	TFB2M_uc010pys.1_RNA	NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	276					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			ovary(1)	1	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			CGGCCCTTTCCGGGTGTATAT	0.368													T	246711878	C	T	246711878	3	4	158	1	0	0	0	0	1	0	0	0	15791	652	23	1	375	1	TFB2M	1	246711878	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	6639774	246711878	2538743	306	84087											
ZNF695	57116	broad.mit.edu	37	chr1	247150765	247150765	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacattcttcacatcggaagGttttctctccagtatgaatt	6	10	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:247150765G>T	uc009xgu.2	-	4	1197	c.1052C>A	c.(1051-1053)ACC>AAC	p.T351N	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	351					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACATCGGAAGGTTTTCTCTCC	0.383													T	247150765	G	T	247150765	3	4	158	1	0	0	0	0	1	0	0	0	18095	1261	44	5	499	5	ZNF695	1	247150765	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	438887	247150765	2099856	307	84088											
ZNF670	93474	broad.mit.edu	37	chr1	247200798	247200798	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgaagggaactggaacaacTgaaggctttaccacatttct	9	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:247200798T>C	uc001icd.1	-	4	1294	c.1123A>G	c.(1123-1125)AGT>GGT	p.S375G	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	zinc finger protein 670	375	C2H2-type 9; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CTGGAACAACTGAAGGCTTTA	0.388													C	247200798	T	C	247200798	3	2	158	1	0	0	0	0	1	0	0	0	18074	1580	55	3	50	3	ZNF670	1	247200798	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	50033	247200798	2049823	308	84089											
VN1R5	317705	broad.mit.edu	37	chr1	247419951	247419951	+	Frame_Shift_Del	DEL	G	G	-													gcggctacccccagtgaaacGgggccagtcttctgtttgtc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:247419950_247419950CG>C	uc010pyu.2	+	1	574	c.574_574CG>C	c.(574-576)cggfs	p.R192fs		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	193					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			CCCAGTGAAACGGGGCCAGTC	0.463													-	247419951	G	-	247419951	7	5	158	1	0	1	0	1	0	0	0	0	17178	1116	39	0	580	0	VN1R5	1	247419951	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	219153	247419951	1830670	309	84090											
OR2W3	343171	broad.mit.edu	37	chr1	248039226	248039226	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaaagctggatcccgccaCggcgcacccgagtctgctct	11	15	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:248039226C>T	uc001idp.1	+	2	126	c.-143C>T	c.(-145--141)CACGG>CATGG		TRIM58_uc001ido.2_Missense_Mutation_p.T299M	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GATCCCGCCACGGCGCACCCG	0.537													T	248039226	C	T	248039226	1	4	158	1	0	0	0	0	0	0	0	0	11033	536	19	1		1	OR2W3	1	248039226	Translation_Start_Site	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	619275	248039226	1211395	310	84091											
OR2L8	391190	broad.mit.edu	37	chr1	248112950	248112950	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatctacgtccaagatcccTgcgatctccaacagaggaca	7	13	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:248112950T>C	uc001idt.1	+	1	791	c.791T>C	c.(790-792)CTG>CCG	p.L264P	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCAAGATCCCTGCGATCTCCA	0.488													C	248112950	T	C	248112950	3	2	158	1	0	0	0	0	1	0	0	0	11009	1580	55	3	793	3	OR2L8	1	248112950	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	73724	248112950	1137671	311	84092											
KIDINS220	57498	broad.mit.edu	37	chr2	8926140	8926140	+	Frame_Shift_Del	DEL	T	T	-													aaaagatgggagacaacatgTttttttccatttctttttac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:8926139_8926139GT>G	uc002qzc.2	-	16	2143	c.1961_1961AC>C	c.(1960-1962)acafs	p.T654fs	KIDINS220_uc010yiv.1_Frame_Shift_Del_p.T420fs|KIDINS220_uc002qzd.2_Frame_Shift_Del_p.T612fs|KIDINS220_uc010yiw.1_Frame_Shift_Del_p.T655fs	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	654	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAGACAACATGTTTTTTTCCA	0.318													-	8926140	T	-	8926140	7	5	158	1	0	1	0	1	0	0	0	0	8271	1725	60	0	3411	0	KIDINS220	2	8926140	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08		8926140	234273233	312	84093											
ADAM17	6868	broad.mit.edu	37	chr2	9630330	9630330	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactctgtttctttgctgtcAacacgattctgacgctgcag	8	12	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:9630330A>G	uc002qzu.2	-	19	2634	c.2451T>C	c.(2449-2451)GTT>GTC	p.V817V	IAH1_uc010yiz.1_Intron|ADAM17_uc010ewy.2_Silent_p.V800V|ADAM17_uc010ewz.2_Silent_p.V160V	NM_003183	NP_003174	P78536	ADA17_HUMAN	a disintegrin and metalloprotease domain 17	817	Cytoplasmic (Potential).				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			lung(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CTTTGCTGTCAACACGATTCT	0.423													G	9630330	A	G	9630330	2	3	158	1	0	0	0	0	0	0	0	1	238	117	5	3		3	ADAM17	2	9630330	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	704190	9630330	233569043	313	84094											
GRHL1	29841	broad.mit.edu	37	chr2	10095050	10095050	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taatttctctgaagcaaacgGccagtgttggttcttcagaa	9	8	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:10095050G>C	uc002raa.2	+	2	198	c.27G>C	c.(25-27)CGG>CGC	p.R9R	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_5'UTR|GRHL1_uc010yjb.1_5'UTR|uc002rac.2_RNA	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	9	Transcription activation.				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GAAGCAAACGGCCAGTGTTGG	0.418													C	10095050	G	C	10095050	2	2	158	1	0	0	0	0	0	0	0	1	6763	1190	42	5		5	GRHL1	2	10095050	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	464720	10095050	233104323	314	84095											
KCNF1	3754	broad.mit.edu	37	chr2	11052924	11052924	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggacctcaagttcctggaCgactgttgcaagagccacct	11	12	1	1	rs151111224	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:11052924C>T	uc002rax.2	+	1	862	c.372C>T	c.(370-372)GAC>GAT	p.D124D		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	124	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AGTTCCTGGACGACTGTTGCA	0.602													T	11052924	C	T	11052924	2	4	158	1	0	0	0	0	0	0	0	1	8026	535	19	1		1	KCNF1	2	11052924	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	957874	11052924	232146449	315	84096											
LPIN1	23175	broad.mit.edu	37	chr2	11905731	11905731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggagctctacaaggggCtgaatcccgccacactctca	10	13	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:11905731C>T	uc010yjn.1	+	3	338	c.64C>T	c.(64-66)CTG>TTG	p.L22L	LPIN1_uc010yjm.1_Silent_p.L71L|LPIN1_uc002rbt.2_Silent_p.L22L|LPIN1_uc002rbs.2_Silent_p.L22L|LPIN1_uc010exi.1_RNA|hsa-mir-548s|MI0014141_5'Flank	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	22	N-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CTACAAGGGGCTGAATCCCGC	0.522													T	11905731	C	T	11905731	2	4	158	1	0	0	0	0	0	0	0	1	8918	796	28	2		2	LPIN1	2	11905731	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	852807	11905731	231293642	316	84097											
DDX1	1653	broad.mit.edu	37	chr2	15746096	15746096	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagatcttggtctggcattTgaaataccaccacatatgaa	7	8	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:15746096T>C	uc002rce.2	+	11	936	c.648T>C	c.(646-648)TTT>TTC	p.F216F	DDX1_uc010yjq.1_Silent_p.F124F	NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	216	B30.2/SPRY.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.|Helicase ATP-binding.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GTCTGGCATTTGAAATACCAC	0.259													C	15746096	T	C	15746096	2	2	158	1	0	0	0	0	0	0	0	1	4341	1809	63	3		3	DDX1	2	15746096	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	3840365	15746096	227453277	317	84098											
C2orf43	60526	broad.mit.edu	37	chr2	20990056	20990056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgtctttgggagccaacGcatgcccagcatgactgata	10	11	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:20990056G>A	uc002rec.2	-	3	290	c.257C>T	c.(256-258)GCG>GTG	p.A86V	C2orf43_uc002rea.1_Missense_Mutation_p.A86V|C2orf43_uc002reb.1_RNA|C2orf43_uc010yka.1_Intron|C2orf43_uc010ykb.1_5'UTR|C2orf43_uc010ykc.1_Intron|C2orf43_uc010ykd.1_Missense_Mutation_p.A86V|C2orf43_uc010yke.1_Intron|C2orf43_uc010ykf.1_Intron	NM_021925	NP_068744	Q9H6V9	CB043_HUMAN	hypothetical protein LOC60526	86											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGAGCCAACGCATGCCCAGC	0.423													A	20990056	G	A	20990056	3	1	158	1	0	0	0	0	1	0	0	0	2167	1087	38	1	740	1	C2orf43	2	20990056	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	5243960	20990056	222209317	318	84099											
APOB	338	broad.mit.edu	37	chr2	21228843	21228843	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatccggacttcatttttccAtctgatcttctggttcttag	6	10	5	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:21228843A>G	uc002red.2	-	26	11025	c.10897T>C	c.(10897-10899)TGG>CGG	p.W3633R		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3633					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCATTTTTCCATCTGATCTTC	0.483													G	21228843	A	G	21228843	3	3	158	1	0	0	0	0	1	0	0	0	785	217	8	3	2810	3	APOB	2	21228843	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	238787	21228843	221970530	319	84100											
ATAD2B	54454	broad.mit.edu	37	chr2	24149568	24149568	+	Frame_Shift_Del	DEL	C	C	-													cgccccaggctctgctccggCcccaggcccaggcccgggac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:24149568delC	uc002rek.3	-	1	367	c.73delG	c.(73-75)GCCfs	p.A25fs	ATAD2B_uc010yki.1_RNA|ATAD2B_uc010exx.1_Frame_Shift_Del_p.A25fs|UBXN2A_uc002rem.2_5'Flank|UBXN2A_uc010exy.2_5'Flank	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	25							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGCTCCGGCCCCAGGCCCA	0.706													-	24149568	C	-	24149568	7	5	158	1	0	1	0	1	0	0	0	0	1072	739	26	0	4415	0	ATAD2B	2	24149568	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	2920725	24149568	219049805	320	84101											
POMC	5443	broad.mit.edu	37	chr2	25384009	25384009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgaacagcgtcaccagggGcgtctggctcttctcggagg	14	11	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:25384009G>A	uc002rfy.1	-	4	1008	c.745C>T	c.(745-747)CCC>TCC	p.P249S	POMC_uc002rfz.1_Missense_Mutation_p.P249S|POMC_uc002rga.1_Missense_Mutation_p.P249S	NM_001035256	NP_001030333	P01189	COLI_HUMAN	proopiomelanocortin preproprotein	249					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	GTCACCAGGGGCGTCTGGCTC	0.642													A	25384009	G	A	25384009	3	1	158	1	0	0	0	0	1	0	0	0	12242	1203	42	2	62	2	POMC	2	25384009	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1234441	25384009	217815364	321	84102											
GPR113	165082	broad.mit.edu	37	chr2	26534413	26534413	+	Frame_Shift_Del	DEL	C	C	-													ggcacccttctttggaccaaCcccccctgccctggaagaga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:26534412_26534412AC>A	uc002rhe.4	-	10	2184	c.2184_2184GT>T	c.(2182-2184)ggtfs	p.G728fs	GPR113_uc010yky.1_Frame_Shift_Del_p.G659fs|GPR113_uc002rhb.1_Frame_Shift_Del_p.G331fs|GPR113_uc010eyk.1_Frame_Shift_Del_p.G529fs|GPR113_uc002rhc.1_Frame_Shift_Del_p.G331fs|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	728	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTGGACCAACCCCCCCTGC	0.612													-	26534413	C	-	26534413	7	5	158	1	0	1	0	1	0	0	0	0	6630	507	18	0	1157	0	GPR113	2	26534413	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	1150404	26534413	216664960	322	84103											
GPR113	165082	broad.mit.edu	37	chr2	26535824	26535824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcaccttcagggctctgCggtcaagctgtattctggcc	10	13	5	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:26535824C>T	uc002rhe.3	-	10	1640	c.1640G>A	c.(1639-1641)CGC>CAC	p.R547H	GPR113_uc010yky.1_Missense_Mutation_p.R478H|GPR113_uc002rhb.1_Missense_Mutation_p.R150H|GPR113_uc010eyk.1_Missense_Mutation_p.R348H|GPR113_uc002rhc.1_Missense_Mutation_p.R150H|GPR113_uc002rhd.1_RNA	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	G-protein coupled receptor 113 isoform 1	547	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGGCTCTGCGGTCAAGCTG	0.602													T	26535824	C	T	26535824	3	4	158	1	0	0	0	0	1	0	0	0	6630	768	27	1	1704	1	GPR113	2	26535824	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1411	26535824	216663549	323	84104											
DPYSL5	56896	broad.mit.edu	37	chr2	27162904	27162905	+	Frame_Shift_Del	DEL	CT	CT	-													cttttctctacccagtgacaCtctgaacatcgtggcatcag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:27162904_27162905delCT	uc002rhu.3	+	9	1111_1112	c.953_954delCT	c.(952-954)ACTfs	p.T318fs	DPYSL5_uc002rhv.3_Frame_Shift_Del_p.T318fs	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	318					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCAGTGACACTCTGAACATCG	0.505													-	27162905	CT	-	27162904	7	5	158	1	0	1	0	1	0	0	0	0	4750	565	20	0	983	0	DPYSL5	2	27162904	Frame_Shift_Del	DEL	CT	TCGA-CD-A4MG-01A-11D-A25D-08	627080	27162904	216036469	324	84105											
EMILIN1	11117	broad.mit.edu	37	chr2	27305786	27305787	+	Frame_Shift_Ins	INS	-	-	G													ggggccgactagagcagttgINSggggggctgctggccaatgt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:27305785_27305786T>TG	uc002rii.4	+	3	1845_1846	c.1346_1347T>TG	c.(1345-1347)ttgfs	p.L449fs	EMILIN1_uc010eyq.2_Frame_Shift_Ins_p.L449fs|EMILIN1_uc002rik.4_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.	449					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTAGAGCAGTTGGGGGGGCTGC	0.708													G	27305787	-	G	27305786	7	5	158	1	0	1	1	0	0	0	0	0	5093	1339	47	0	1361	0	EMILIN1	2	27305786	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	142882	27305786	215893587	325	84106											
EMILIN1	11117	broad.mit.edu	37	chr2	27306611	27306611	+	Frame_Shift_Del	DEL	G	G	-													ggccagtgccccagcttagaGgggcgattgggccgtcttga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:27306610_27306610AG>A	uc002rii.4	+	3	2670	c.2171_2171AG>A	c.(2170-2172)gagfs	p.E724fs	EMILIN1_uc002rik.4_5'UTR	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.	724					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCAGCTTAGAGGGGCGATTG	0.647													-	27306611	G	-	27306611	7	5	158	1	0	1	0	1	0	0	0	0	5093	991	35	0	2186	0	EMILIN1	2	27306611	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	825	27306611	215892762	326	84107											
EMILIN1	11117	broad.mit.edu	37	chr2	27306679	27306679	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgggggactgcagggccTgcgcgagggcctttccagac	18	12	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:27306679T>C	uc002rii.3	+	4	2668	c.2240T>C	c.(2239-2241)CTG>CCG	p.L747P	EMILIN1_uc002rik.3_5'UTR|KHK_uc002ril.2_5'Flank|KHK_uc002rim.2_5'Flank|KHK_uc002rin.2_5'Flank|KHK_uc002rio.2_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	747	Potential.				cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCAGGGCCTGCGCGAGGGC	0.662													C	27306679	T	C	27306679	3	2	158	1	0	0	0	0	1	0	0	0	5093	1580	55	3	2254	3	EMILIN1	2	27306679	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	68	27306679	215892694	327	84108											
C2orf28	51374	broad.mit.edu	37	chr2	27436156	27436156	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctgaatcagaagggcAccatcttggggtgaggggaa	16	8	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:27436156A>G	uc002rjf.2	+	2	549	c.376A>G	c.(376-378)ACC>GCC	p.T126A	SLC5A6_uc002rjd.2_5'Flank|SLC5A6_uc010eyv.1_5'Flank|SLC5A6_uc002rje.1_5'Flank|C2orf28_uc002rjg.2_Missense_Mutation_p.T13A	NM_080592	NP_542159	Q6UW56	APR3_HUMAN	apoptosis related protein 3 isoform b	71	Extracellular (Potential).					integral to membrane|plasma membrane				skin(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGAAGGGCACCATCTTGGG	0.463													G	27436156	A	G	27436156	3	3	158	1	0	0	0	0	1	0	0	0	2160	159	6	3	382	3	C2orf28	2	27436156	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	129477	27436156	215763217	328	84109											
C2orf28	51374	broad.mit.edu	37	chr2	27438343	27438343	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacattgtgtactttgcagaGacctgcaagcaaaccccctc	7	13	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:27438343G>T	uc002rjf.2	+	4	633	c.460G>T	c.(460-462)GAC>TAC	p.D154Y	C2orf28_uc002rjg.2_Missense_Mutation_p.D41Y|C2orf28_uc002rjh.2_5'Flank|CAD_uc002rji.2_5'Flank|CAD_uc010eyw.2_5'Flank	NM_080592	NP_542159	Q6UW56	APR3_HUMAN	apoptosis related protein 3 isoform b	99	Extracellular (Potential).					integral to membrane|plasma membrane				skin(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTTGCAGAGACCTGCAAGC	0.458													T	27438343	G	T	27438343	3	4	158	1	0	0	0	0	1	0	0	0	2160	956	33	5	474	5	C2orf28	2	27438343	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2187	27438343	215761030	329	84110											
CAD	790	broad.mit.edu	37	chr2	27463982	27463982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaccagtaccgagacagGcatctccccagaacctgggg	10	16	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:27463982G>A	uc002rji.2	+	37	5857	c.5695G>A	c.(5695-5697)GCA>ACA	p.A1899T	CAD_uc010eyw.2_Missense_Mutation_p.A1836T	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1899	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ACCGAGACAGGCATCTCCCCA	0.607													A	27463982	G	A	27463982	3	1	158	1	0	0	0	0	1	0	0	0	2565	1203	42	2	5841	2	CAD	2	27463982	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	25639	27463982	215735391	330	84111											
GTF3C2	2976	broad.mit.edu	37	chr2	27560869	27560869	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccattgggagccattcctcGgcagtgtggtttctgtttct	12	10	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:27560869G>A	uc002rjv.1	-	6	1237	c.874C>T	c.(874-876)CGA>TGA	p.R292*	GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rju.1_Nonsense_Mutation_p.R303*|GTF3C2_uc002rjw.1_Nonsense_Mutation_p.R292*|GTF3C2_uc010eyz.1_Nonsense_Mutation_p.R292*	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	292						transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCATTCCTCGGCAGTGTGGT	0.473													A	27560869	G	A	27560869	4	1	158	1	0	0	0	0	0	1	0	0	6873	1124	39	1	1921	1	GTF3C2	2	27560869	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	96887	27560869	215638504	331	84112											
RBKS	64080	broad.mit.edu	37	chr2	28065937	28065937	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaatatgtataattacctcCactcctgcgggccattgtta	6	11	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:28065937C>A	uc002rlo.1	-	5	522	c.511G>T	c.(511-513)GGA>TGA	p.G171*	RBKS_uc010ezi.1_Nonsense_Mutation_p.G104*|RBKS_uc010ymg.1_Nonsense_Mutation_p.G171*	NM_022128	NP_071411	Q9H477	RBSK_HUMAN	ribokinase	171					D-ribose metabolic process		ATP binding|ribokinase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)					TAATTACCTCCACTCCTGCGG	0.398													A	28065937	C	A	28065937	4	1	158	1	0	0	0	0	0	1	0	0	13108	603	21	5	473	5	RBKS	2	28065937	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	505068	28065937	215133436	332	84113											
PLB1	151056	broad.mit.edu	37	chr2	28843473	28843473	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctcctccccagcattggAggggatgggaacttggagac	13	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:28843473A>G	uc002rmb.1	+	48	3390	c.3390A>G	c.(3388-3390)GGA>GGG	p.G1130G	PLB1_uc010ezj.1_Silent_p.G1119G|PLB1_uc002rme.1_Silent_p.G95G|PLB1_uc002rmf.1_RNA	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	1130	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|4.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					CCAGCATTGGAGGGGATGGGA	0.567													G	28843473	A	G	28843473	2	3	158	1	0	0	0	0	0	0	0	1	12024	291	11	3		3	PLB1	2	28843473	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	777536	28843473	214355900	333	84114											
ALK	238	broad.mit.edu	37	chr2	29462640	29462640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagcacagacacgccgtggGaccgcatcatggtgttcttc	11	14	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:29462640G>A	uc002rmy.2	-	13	3168	c.2261C>T	c.(2260-2262)TCC>TTC	p.S754F		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	754	Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CACGCCGTGGGACCGCATCAT	0.587			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				A	29462640	G	A	29462640	3	1	158	1	0	0	0	0	1	0	0	0	525	1174	41	4	2669	4	ALK	2	29462640	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	619167	29462640	213736733	334	84115											
EHD3	30845	broad.mit.edu	37	chr2	31483400	31483400	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactttgcagctgtccttgAgtggtttgccgagcgggttg	15	8	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:31483400A>G	uc002rnu.2	+	4	1135	c.527A>G	c.(526-528)GAG>GGG	p.E176G	EHD3_uc010ymt.1_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	176					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)					GCTGTCCTTGAGTGGTTTGCC	0.493													G	31483400	A	G	31483400	3	3	158	1	0	0	0	0	1	0	0	0	4979	304	11	3	541	3	EHD3	2	31483400	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	2020760	31483400	211715973	335	84116											
SPAST	6683	broad.mit.edu	37	chr2	32379525	32379525	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaaactttagaagcgtAcatacgttggaacaaggact	8	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:32379525A>G	uc002roc.2	+	17	2032	c.1811A>G	c.(1810-1812)TAC>TGC	p.Y604C	SPAST_uc002rod.2_Missense_Mutation_p.Y572C	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	spastin isoform 1	604	Sufficient for microtubule severing.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTAGAAGCGTACATACGTTGG	0.348													G	32379525	A	G	32379525	3	3	158	1	0	0	0	0	1	0	0	0	14996	391	14	3	1877	3	SPAST	2	32379525	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	896125	32379525	210819848	336	84117											
FEZ2	9637	broad.mit.edu	37	chr2	36805950	36805950	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctcagagtactccttaatGgcagtctcaatttcttccag	6	12	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:36805950G>T	uc002rph.2	-	5	740	c.693C>A	c.(691-693)GCC>GCA	p.A231A	FEZ2_uc002rpe.2_Silent_p.A60A|FEZ2_uc002rpf.2_Silent_p.A60A|FEZ2_uc002rpg.2_Silent_p.A231A|FEZ2_uc002rpi.2_Silent_p.A86A|FEZ2_uc002rpj.2_Silent_p.A231A	NM_005102	NP_005093	Q9UHY8	FEZ2_HUMAN	zygin 2 isoform 1	231	Potential.				axon guidance|signal transduction		protein binding			ovary(1)	1		all_hematologic(82;0.21)				ACTCCTTAATGGCAGTCTCAA	0.393													T	36805950	G	T	36805950	2	4	158	1	0	0	0	0	0	0	0	1	5824	1335	47	5		5	FEZ2	2	36805950	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4426425	36805950	206393423	337	84118											
VIT	5212	broad.mit.edu	37	chr2	37041389	37041389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctagaagtcattgccaCtcaccccgccagagaccact	9	15	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:37041389C>T	uc002rpl.2	+	16	2188	c.1967C>T	c.(1966-1968)ACT>ATT	p.T656I	VIT_uc002rpm.2_Missense_Mutation_p.T634I|VIT_uc010ezv.2_Missense_Mutation_p.T612I|VIT_uc010ezw.2_Missense_Mutation_p.T613I	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	641	VWFA 2.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				GTCATTGCCACTCACCCCGCC	0.507													T	37041389	C	T	37041389	3	4	158	1	0	0	0	0	1	0	0	0	17168	565	20	4	2150	4	VIT	2	37041389	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	235439	37041389	206157984	338	84119											
HEATR5B	54497	broad.mit.edu	37	chr2	37234399	37234399	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggggcccaggaattccgaTagtgaagtctagctgtatca	12	8	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:37234399T>C	uc002rpp.1	-	29	4667	c.4571A>G	c.(4570-4572)TAT>TGT	p.Y1524C	HEATR5B_uc010ezy.1_Missense_Mutation_p.Y108C	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1524							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				GGAATTCCGATAGTGAAGTCT	0.378													C	37234399	T	C	37234399	3	2	158	1	0	0	0	0	1	0	0	0	7032	1406	49	3	1676	3	HEATR5B	2	37234399	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	193010	37234399	205964974	339	84120											
ATL2	64225	broad.mit.edu	37	chr2	38526463	38526463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaagattattagcttcagCtgttgcctaaaaaataaaat	6	6	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:38526463C>T	uc002rqq.2	-	11	1165	c.1135G>A	c.(1135-1137)GCT>ACT	p.A379T	ATL2_uc010ynm.1_Missense_Mutation_p.A361T|ATL2_uc010ynn.1_Missense_Mutation_p.A361T|ATL2_uc010yno.1_Missense_Mutation_p.A208T|ATL2_uc002rqs.2_Missense_Mutation_p.A379T|ATL2_uc002rqr.2_Missense_Mutation_p.A208T	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2 isoform 2	379	Cytoplasmic.				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			ovary(1)|kidney(1)|skin(1)	3						TTAGCTTCAGCTGTTGCCTAA	0.308													T	38526463	C	T	38526463	3	4	158	1	0	0	0	0	1	0	0	0	1107	797	28	2	740	2	ATL2	2	38526463	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1292064	38526463	204672910	340	84121											
CDKL4	344387	broad.mit.edu	37	chr2	39417505	39417505	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttccaggccacagtggcTggcctgtcaggagctctgca	12	12	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:39417505T>G	uc002rrm.2	-	5	593	c.593A>C	c.(592-594)CAG>CCG	p.Q198P	CDKL4_uc010fal.1_Missense_Mutation_p.Q198P	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	198	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			ovary(1)	1		all_hematologic(82;0.248)				CCACAGTGGCTGGCCTGTCAG	0.438													G	39417505	T	G	39417505	3	3	158	1	0	0	0	0	1	0	0	0	3156	1580	55	5	370	5	CDKL4	2	39417505	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	891042	39417505	203781868	341	84122											
ZFP36L2	678	broad.mit.edu	37	chr2	43452512	43452512	+	Frame_Shift_Del	DEL	C	C	-													agttgatctgggagccgccgCcccccttctgctgctgctgc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:43452511_43452511GC>G	uc002rsv.4	-	1	723	c.432_432GC>C	c.(430-432)ggcfs	p.G144fs	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 2 (ZFP36L2), mRNA.	144	Poly-Gly.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGGAGCCGCCGCCCCCCTTCT	0.637													-	43452512	C	-	43452512	7	5	158	1	0	1	0	1	0	0	0	0	17644	739	26	0	1057	0	ZFP36L2	2	43452512	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	4035007	43452512	199746861	342	84123											
PPM1B	5495	broad.mit.edu	37	chr2	44428501	44428501	+	Frame_Shift_Del	DEL	T	T	-													acggcttggaagactggtcaTtttttgcagtttatgatggt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:44428500_44428500AT>A	uc002rtt.3	+	1	590	c.162_162AT>A	c.(160-162)tcafs	p.S54fs	PPM1B_uc002rts.3_Frame_Shift_Del_p.S54fs|PPM1B_uc002rtu.3_Frame_Shift_Del_p.S54fs|PPM1B_uc002rtv.3_Intron|PPM1B_uc002rtw.3_Frame_Shift_Del_p.S54fs|PPM1B_uc002rtx.3_Frame_Shift_Del_p.S54fs	NM_002706	NP_002697	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.	54					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAGACTGGTCATTTTTTGCAG	0.448													-	44428501	T	-	44428501	7	5	158	1	0	1	0	1	0	0	0	0	12336	1493	52	0	165	0	PPM1B	2	44428501	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	975989	44428501	198770872	343	84124											
MSH6	2956	broad.mit.edu	37	chr2	48028049	48028049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggggattggtaggaaccGttaccagctggaaattcctg	14	7	0	0	rs63751113		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:48028049G>A	uc002rwd.3	+	4	3079	c.2927G>A	c.(2926-2928)CGT>CAT	p.R976H	MSH6_uc002rwc.2_Missense_Mutation_p.R976H|MSH6_uc010fbj.2_Missense_Mutation_p.R674H|MSH6_uc010yoi.1_Missense_Mutation_p.R846H|MSH6_uc010yoj.1_Missense_Mutation_p.R674H	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	976			R -> H (in CRC; sporadic).		determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGTAGGAACCGTTACCAGCTG	0.443			Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				A	48028049	G	A	48028049	3	1	158	1	0	0	0	0	1	0	0	0	9874	1145	40	1	2941	1	MSH6	2	48028049	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3599548	48028049	195171324	344	84125											
FBXO11	80204	broad.mit.edu	37	chr2	48050315	48050315	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactatttgaggtaatccatAcacctgcaaagttgtttgca	7	9	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:48050315A>G	uc010fbl.2	-	12	1445	c.1331T>C	c.(1330-1332)GTA>GCA	p.V444A	FBXO11_uc002rwe.2_Missense_Mutation_p.V444A|FBXO11_uc002rwf.2_Missense_Mutation_p.V444A|FBXO11_uc002rwg.1_Missense_Mutation_p.V444A|FBXO11_uc010fbk.2_5'UTR	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	528	PbH1 6.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGTAATCCATACACCTGCAAA	0.333													G	48050315	A	G	48050315	3	3	158	1	0	0	0	0	1	0	0	0	5727	391	14	3	1338	3	FBXO11	2	48050315	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	22266	48050315	195149058	345	84126											
FOXN2	3344	broad.mit.edu	37	chr2	48602442	48602442	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtcaggcaaaaagatgCgaaaacagacatgtcaagaa	11	7	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:48602442C>T	uc002rwh.1	+	7	1471	c.1156C>T	c.(1156-1158)CGA>TGA	p.R386*		NM_002158	NP_002149	P32314	FOXN2_HUMAN	T-cell leukemia virus enhancer factor	386					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CAAAAAGATGCGAAAACAGAC	0.438													T	48602442	C	T	48602442	4	4	158	1	0	0	0	0	0	1	0	0	6020	760	27	1	1174	1	FOXN2	2	48602442	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	552127	48602442	194596931	346	84127											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48808775	48808775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggctttctgaacccaagGttgagaacttcagtgtagca	11	8	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:48808775G>A	uc010yol.1	+	1	1050	c.1003G>A	c.(1003-1005)GTT>ATT	p.V335I	STON1_uc002rwo.3_Missense_Mutation_p.V335I|STON1_uc010fbm.2_Missense_Mutation_p.V335I|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.V335I|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.V335I	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	335					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGAACCCAAGGTTGAGAACTT	0.368													A	48808775	G	A	48808775	3	1	158	1	0	0	0	0	1	0	0	0	15316	1261	44	4	1005	4	STON1-GTF2A1L	2	48808775	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	206333	48808775	194390598	347	84128											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48808931	48808931	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacatcgtaccatgacttcCttgactttctgactactgtg	6	13	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:48808931C>A	uc010yol.1	+	1	1206	c.1159C>A	c.(1159-1161)CTT>ATT	p.L387I	STON1_uc002rwo.3_Missense_Mutation_p.L387I|STON1_uc010fbm.2_Missense_Mutation_p.L387I|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.L387I|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.L387I	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	387					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCATGACTTCCTTGACTTTCT	0.413													A	48808931	C	A	48808931	3	1	158	1	0	0	0	0	1	0	0	0	15316	681	24	5	1161	5	STON1-GTF2A1L	2	48808931	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	156	48808931	194390442	348	84129											
NRXN1	9378	broad.mit.edu	37	chr2	50318472	50318472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcttacctgcagggtagCgctcgatcactggccagctg	12	13	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:50318472C>T	uc010fbp.2	-	3	1409	c.602G>A	c.(601-603)CGC>CAC	p.R201H	NRXN1_uc002rxb.3_Missense_Mutation_p.R908H|NRXN1_uc010fbq.2_Missense_Mutation_p.R1276H|NRXN1_uc002rxe.3_Missense_Mutation_p.R1236H	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	201	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGCAGGGTAGCGCTCGATCAC	0.448													T	50318472	C	T	50318472	3	4	158	1	0	0	0	0	1	0	0	0	10665	768	27	1	836	1	NRXN1	2	50318472	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1509541	50318472	192880901	349	84130											
C2orf63	130162	broad.mit.edu	37	chr2	55408858	55408858	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aataagagtaatggaagaggCtttcctctaatttttccaac	7	7	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:55408858C>A	uc002ryi.2	-	10	1375	c.1029G>T	c.(1027-1029)AAG>AAT	p.K343N	C2orf63_uc002ryh.2_5'UTR|C2orf63_uc002ryj.2_Missense_Mutation_p.K221N	NM_152385	NP_689598	Q8NHS4	CB063_HUMAN	hypothetical protein LOC130162 isoform 1	343							binding			ovary(2)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			ATGGAAGAGGCTTTCCTCTAA	0.343													A	55408858	C	A	55408858	3	1	158	1	0	0	0	0	1	0	0	0	2182	796	28	5	747	5	C2orf63	2	55408858	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	5090386	55408858	187790515	350	84131											
MTIF2	4528	broad.mit.edu	37	chr2	55489457	55489457	+	Frame_Shift_Del	DEL	T	T	-													aaatatctgactcacctgtgTttttttccattgccctggcc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:55489456_55489456GT>G	uc002ryn.3	-	5	1064	c.327_327AC>C	c.(325-327)aacfs	p.N109fs	MTIF2_uc010yox.2_5'UTR|MTIF2_uc002ryo.3_Frame_Shift_Del_p.N109fs	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	109					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						ACTCACCTGTGTTTTTTTCCA	0.363													-	55489457	T	-	55489457	7	5	158	1	0	1	0	1	0	0	0	0	9934	1725	60	0	1905	0	MTIF2	2	55489457	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	80599	55489457	187709916	351	84132											
SERTAD2	9792	broad.mit.edu	37	chr2	64863313	64863313	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaaacccgtggacgtcgtTatttcaaaattcccaggcag	10	10	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:64863313T>C	uc002sde.1	-	2	990	c.693A>G	c.(691-693)ATA>ATG	p.I231M		NM_014755	NP_055570	Q14140	SRTD2_HUMAN	SERTA domain containing 2	231					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus					0						TGGACGTCGTTATTTCAAAAT	0.517													C	64863313	T	C	64863313	3	2	158	1	0	0	0	0	1	0	0	0	14121	1744	61	3	255	3	SERTAD2	2	64863313	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	9373856	64863313	178336060	352	84133											
CEP68	23177	broad.mit.edu	37	chr2	65300081	65300081	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcccaggaaaggaggagaAcagggaaaagaatcactggt	13	7	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:65300081A>G	uc002sdl.3	+	3	2065	c.1851A>G	c.(1849-1851)GAA>GAG	p.E617E	CEP68_uc002sdj.2_Silent_p.E617E|CEP68_uc010yqb.1_Silent_p.E617E|CEP68_uc002sdk.3_Intron|CEP68_uc010yqc.1_Silent_p.E617E|CEP68_uc010yqd.1_Silent_p.E617E	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	617					centrosome organization	centrosome				skin(1)	1						AAGGAGGAGAACAGGGAAAAG	0.512													G	65300081	A	G	65300081	2	3	158	1	0	0	0	0	0	0	0	1	3258	40	2	3		3	CEP68	2	65300081	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	436768	65300081	177899292	353	84134											
SPRED2	200734	broad.mit.edu	37	chr2	65659116	65659116	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgtctgggtgtgtttcttcGgtcattttcttgttcaccta	9	9	5	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:65659116G>T	uc002sdr.3	-	1	541	c.6C>A	c.(4-6)ACC>ACA	p.T2T	SPRED2_uc010fcx.1_RNA	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	2					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3						GTGTTTCTTCGGTCATTTTCT	0.647													T	65659116	G	T	65659116	2	4	158	1	0	0	0	0	0	0	0	1	15092	1103	39	5		5	SPRED2	2	65659116	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	359035	65659116	177540257	354	84135											
ETAA1	54465	broad.mit.edu	37	chr2	67626691	67626692	+	Frame_Shift_Ins	INS	-	-	A													gtttctttaggtaaaggaagINSaaaaaaacagatttacacca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:67626691_67626692insA	uc002sdz.1	+	3	501_502	c.362_363insA	c.(361-363)AGAfs	p.R121fs		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	ETAA16 protein	121						cytoplasm|nucleus				ovary(3)|large_intestine(1)	4						GGTAAAGGAAGAAAAAAACAGA	0.267													A	67626692	-	A	67626691	7	5	158	1	0	1	1	0	0	0	0	0	5267	942	33	0	372	0	ETAA1	2	67626691	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	1967575	67626691	175572682	355	84136	419	2									
ETAA1	54465	broad.mit.edu	37	chr2	67626692	67626693	+	Frame_Shift_Ins	INS	-	-	A													tttctttaggtaaaggaagaINSaaaaaacagatttacaccac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:67626691_67626692G>GA	uc002sdz.1	+	2	501_502	c.362_363G>GA	c.(361-363)agafs	p.R121fs		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	121						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GGTAAAGGAAGAAAAAAACAGA	0.267													A	67626693	-	A	67626692	7	5	158	1	0	1	1	0	0	0	0	0	5267	243	9	0	373	0	ETAA1	2	67626692	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	1	67626692	175572681	356	84137	419	2									
GKN2	200504	broad.mit.edu	37	chr2	69179987	69179988	+	Frame_Shift_Ins	INS	-	-	T													aaacaaatactcacaagtatINStttcattttgcctgggagag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:69179986_69179987A>AT	uc002sfa.3	-	0	116_117	c.7_8T>AT	c.(7-9)atafs	p.I3fs	GKN2_uc002sfb.4_Frame_Shift_Ins_p.I3fs	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN	Homo sapiens gastrokine 2 (GKN2), mRNA.	3						extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						ACTCACAAGTATTTTCATTTTG	0.416													T	69179988	-	T	69179987	7	5	158	1	0	1	1	0	0	0	0	0	6425	1493	52	0	571	0	GKN2	2	69179987	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	1553295	69179987	174019386	357	84138											
ATP6V1B1	525	broad.mit.edu	37	chr2	71187161	71187161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgaacagcattgcccgcGgccagaagatccccatcttc	8	15	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:71187161G>A	uc002shj.2	+	6	625	c.538G>A	c.(538-540)GGC>AGC	p.G180S	ATP6V1B1_uc002shi.1_Missense_Mutation_p.G180S|ATP6V1B1_uc010fdv.2_Missense_Mutation_p.G180S|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.G138S	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	180					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1						CATTGCCCGCGGCCAGAAGAT	0.622													A	71187161	G	A	71187161	3	1	158	1	0	0	0	0	1	0	0	0	1178	1116	39	1	560	1	ATP6V1B1	2	71187161	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2007174	71187161	172012212	358	84139											
DYSF	8291	broad.mit.edu	37	chr2	71743310	71743310	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttgctctgaaccaacagActcttttcttcaacttgttt	4	11	5	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:71743310A>G	uc002sie.2	+	8	1169	c.793A>G	c.(793-795)ACT>GCT	p.T265A	DYSF_uc010feg.2_Missense_Mutation_p.T296A|DYSF_uc010feh.2_Missense_Mutation_p.T265A|DYSF_uc002sig.3_Missense_Mutation_p.T265A|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.T265A|DYSF_uc010fef.2_Missense_Mutation_p.T296A|DYSF_uc010fei.2_Missense_Mutation_p.T296A|DYSF_uc010fek.2_Missense_Mutation_p.T297A|DYSF_uc010fej.2_Missense_Mutation_p.T266A|DYSF_uc010fel.2_Missense_Mutation_p.T266A|DYSF_uc010feo.2_Missense_Mutation_p.T297A|DYSF_uc010fem.2_Missense_Mutation_p.T266A|DYSF_uc010fen.2_Missense_Mutation_p.T297A|DYSF_uc002sif.2_Missense_Mutation_p.T266A	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	265	Cytoplasmic (Potential).|C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GAACCAACAGACTCTTTTCTT	0.522													G	71743310	A	G	71743310	3	3	158	1	0	0	0	0	1	0	0	0	4859	289	10	3	1015	3	DYSF	2	71743310	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	556149	71743310	171456063	359	84140											
DYSF	8291	broad.mit.edu	37	chr2	71839797	71839798	+	Frame_Shift_Ins	INS	-	-	C													ccagggaggagctctactgcINSccccccatcaccgtcaaggt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:71839796_71839797G>GC	uc010fen.3	+	38	4388_4389	c.4247_4248G>GC	c.(4246-4248)tgcfs	p.C1416fs	DYSF_uc010fei.3_Frame_Shift_Ins_p.C1415fs|DYSF_uc010feh.3_Frame_Shift_Ins_p.C1384fs|DYSF_uc002sig.4_Frame_Shift_Ins_p.C1384fs|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Frame_Shift_Ins_p.C1429fs|DYSF_uc010fee.3_Frame_Shift_Ins_p.C1398fs|DYSF_uc010fef.3_Frame_Shift_Ins_p.C1415fs|DYSF_uc002sie.3_Frame_Shift_Ins_p.C1398fs|DYSF_uc010feo.3_Frame_Shift_Ins_p.C1430fs|DYSF_uc010fej.3_Frame_Shift_Ins_p.C1385fs|DYSF_uc010fel.3_Frame_Shift_Ins_p.C1385fs|DYSF_uc010fem.3_Frame_Shift_Ins_p.C1399fs|DYSF_uc002sif.3_Frame_Shift_Ins_p.C1399fs|DYSF_uc010fek.3_Frame_Shift_Ins_p.C1416fs|DYSF_uc010yqy.2_Frame_Shift_Ins_p.C279fs|DYSF_uc010yqz.2_Frame_Shift_Ins_p.C138fs	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1398						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGCTCTACTGCCCCCCCATCA	0.619													C	71839798	-	C	71839797	7	5	158	1	0	1	1	0	0	0	0	0	4859	747	26	0	4540	0	DYSF	2	71839797	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	96487	71839797	171359576	360	84141											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73316315	73316315	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatcttgctgaagggagacCttggcttgtccttcatggac	12	9	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:73316315C>A	uc002siu.3	-	2	801	c.560G>T	c.(559-561)AGG>ATG	p.R187M	RAB11FIP5_uc002sit.3_Missense_Mutation_p.R109M	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	187					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding				0						GAAGGGAGACCTTGGCTTGTC	0.522													A	73316315	C	A	73316315	3	1	158	1	0	0	0	0	1	0	0	0	12897	681	24	5	1417	5	RAB11FIP5	2	73316315	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1476518	73316315	169883058	361	84142											
EGR4	1961	broad.mit.edu	37	chr2	73519471	73519471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agacagcgtccagcgctggcGaggcgggaggcgcccggagg	20	12	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:73519471G>A	uc010yrj.1	-	2	959	c.884C>T	c.(883-885)TCG>TTG	p.S295L	EGR4_uc010yrk.1_Missense_Mutation_p.S294L	NM_001965	NP_001956	Q05215	EGR4_HUMAN	early growth response 4	191						intracellular	nucleic acid binding|zinc ion binding				0						CAGCGCTGGCGAGGCGGGAGG	0.706													A	73519471	G	A	73519471	3	1	158	1	0	0	0	0	1	0	0	0	4974	1059	37	1	889	1	EGR4	2	73519471	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	203156	73519471	169679902	362	84143											
ALMS1	7840	broad.mit.edu	37	chr2	73800417	73800417	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtatgcttgtcacccagaCgaattaaattatatagcagc	8	8	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:73800417C>T	uc002sje.1	+	18	11527	c.11416C>T	c.(11416-11418)CGA>TGA	p.R3806*	ALMS1_uc002sjf.1_Nonsense_Mutation_p.R3762*|ALMS1_uc002sjg.2_Nonsense_Mutation_p.R3192*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.R3192*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3804					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						GTCACCCAGACGAATTAAATT	0.468													T	73800417	C	T	73800417	4	4	158	1	0	0	0	0	0	1	0	0	535	528	19	1	11472	1	ALMS1	2	73800417	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	280946	73800417	169398956	363	84144											
TET3	200424	broad.mit.edu	37	chr2	74327752	74327752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggcttccactccaagtaCgctctcccgtcttttagcta	6	14	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:74327752C>T	uc002skb.3	+	9	3432	c.3432C>T	c.(3430-3432)TAC>TAT	p.Y1144Y		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	1144							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						ACTCCAAGTACGCTCTCCCGT	0.592													T	74327752	C	T	74327752	2	4	158	1	0	0	0	0	0	0	0	1	15768	547	19	1		1	TET3	2	74327752	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	527335	74327752	168871621	364	84145											
DCTN1	1639	broad.mit.edu	37	chr2	74593706	74593706	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcagcacagccacgacCcacgtcaagtgtttcctgca	8	16	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:74593706C>A	uc002skx.2	-	22	2819	c.2508G>T	c.(2506-2508)TGG>TGT	p.W836C	DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Missense_Mutation_p.W702C|DCTN1_uc002sku.2_Missense_Mutation_p.W702C|DCTN1_uc002skw.1_Missense_Mutation_p.W812C|DCTN1_uc010ffd.2_Missense_Mutation_p.W816C|DCTN1_uc002sky.2_Missense_Mutation_p.W799C	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	836					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						CAGCCACGACCCACGTCAAGT	0.592													A	74593706	C	A	74593706	3	1	158	1	0	0	0	0	1	0	0	0	4306	624	22	5	1372	5	DCTN1	2	74593706	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	265954	74593706	168605667	365	84146											
WBP1	23559	broad.mit.edu	37	chr2	74687543	74687543	+	Frame_Shift_Del	DEL	C	C	-													tgtttcctcccaccagagtgCcccccctcatcaggagggtg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:74687542_74687542GC>G	uc002slj.2	+	3	747	c.544_544GC>G	c.(544-546)gccfs	p.A182fs	INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002sll.2_Non-coding_Transcript	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	Homo sapiens WW domain binding protein 1 (WBP1), mRNA.	182							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCACCAGAGTGCCCCCCCTCA	0.602													-	74687543	C	-	74687543	7	5	158	1	0	1	0	1	0	0	0	0	17254	739	26	0	559	0	WBP1	2	74687543	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	93837	74687543	168511830	366	84147											
CCDC142	84865	broad.mit.edu	37	chr2	74708370	74708370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggctggcagaaaatcCgtcgtaacctgggctctcga	12	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:74708370C>T	uc002slr.2	-	3	1631	c.1238G>A	c.(1237-1239)CGG>CAG	p.R413Q	TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Missense_Mutation_p.R413Q|CCDC142_uc002slp.2_Missense_Mutation_p.R413Q	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	413										central_nervous_system(1)	1						GCAGAAAATCCGTCGTAACCT	0.557													T	74708370	C	T	74708370	3	4	158	1	0	0	0	0	1	0	0	0	2776	652	23	1	1021	1	CCDC142	2	74708370	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	20827	74708370	168491003	367	84148											
CCDC142	84865	broad.mit.edu	37	chr2	74709916	74709916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttgcgccctcagcggggGcacgataacgagtggaggca	18	10	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:74709916G>A	uc002slr.2	-	1	442	c.49C>T	c.(49-51)CCC>TCC	p.P17S	TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Missense_Mutation_p.P17S|CCDC142_uc002slp.2_Missense_Mutation_p.P17S	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	17										central_nervous_system(1)	1						CTCAGCGGGGGCACGATAACG	0.672													A	74709916	G	A	74709916	3	1	158	1	0	0	0	0	1	0	0	0	2776	1203	42	2	2218	2	CCDC142	2	74709916	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1546	74709916	168489457	368	84149											
HTRA2	27429	broad.mit.edu	37	chr2	74757242	74757242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgacccctgacctccggGccctgctgacgtcaggaact	11	15	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:74757242G>A	uc002smi.1	+	1	711	c.109G>A	c.(109-111)GCC>ACC	p.A37T	AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Missense_Mutation_p.A37T|HTRA2_uc002smk.1_Missense_Mutation_p.A37T|HTRA2_uc002sml.1_Missense_Mutation_p.A37T|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	37					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1						TGACCTCCGGGCCCTGCTGAC	0.697													A	74757242	G	A	74757242	3	1	158	1	0	0	0	0	1	0	0	0	7454	1203	42	2	111	2	HTRA2	2	74757242	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	47326	74757242	168442131	369	84150											
LRRTM1	347730	broad.mit.edu	37	chr2	80529700	80529700	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttctcggcgtgctcgccGcctggaagagccacggtggc	16	14	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:80529700G>A	uc002sok.1	-	2	1515	c.1245C>T	c.(1243-1245)GGC>GGT	p.G415G	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	415	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						CGTGCTCGCCGCCTGGAAGAG	0.677										HNSCC(69;0.2)			A	80529700	G	A	80529700	2	1	158	1	0	0	0	0	0	0	0	1	9039	1074	38	1		1	LRRTM1	2	80529700	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	5772458	80529700	162669673	370	84151											
LRRTM1	347730	broad.mit.edu	37	chr2	80529904	80529904	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacgtcctcgccctgtgcGtactccgggctggcgcactg	14	15	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:80529904G>A	uc002sok.1	-	2	1311	c.1041C>T	c.(1039-1041)TAC>TAT	p.Y347Y	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	347	LRRCT.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						CGCCCTGTGCGTACTCCGGGC	0.672										HNSCC(69;0.2)			A	80529904	G	A	80529904	2	1	158	1	0	0	0	0	0	0	0	1	9039	1140	40	1		1	LRRTM1	2	80529904	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	204	80529904	162669469	371	84152											
C2orf89	129293	broad.mit.edu	37	chr2	85051310	85051310	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacagagtgggccgtgtggaGgtctttttactcttccctct	12	10	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:85051310G>T	uc010ysl.1	-	6	1190	c.1101C>A	c.(1099-1101)ACC>ACA	p.T367T	C2orf89_uc002sou.3_Silent_p.T318T	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	hypothetical protein LOC129293 precursor	367	Extracellular (Potential).					integral to membrane				ovary(1)	1						GCCGTGTGGAGGTCTTTTTAC	0.567													T	85051310	G	T	85051310	2	4	158	1	0	0	0	0	0	0	0	1	2203	987	35	5		5	C2orf89	2	85051310	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4521406	85051310	158148063	372	84153											
PTCD3	55037	broad.mit.edu	37	chr2	86352131	86352131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctagagcaaaaaacaacGctgagagaatcttttctcta	7	8	3	3	rs139051130		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:86352131G>A	uc002sqw.2	+	10	796	c.730G>A	c.(730-732)GCT>ACT	p.A244T	PTCD3_uc010ytc.1_RNA|PTCD3_uc002sqx.1_5'UTR	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3 precursor	244						mitochondrion	protein binding			ovary(1)	1						AAAAAACAACGCTGAGAGAAT	0.289													A	86352131	G	A	86352131	3	1	158	1	0	0	0	0	1	0	0	0	12729	1087	38	1	768	1	PTCD3	2	86352131	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1300821	86352131	156847242	373	84154											
KDM3A	55818	broad.mit.edu	37	chr2	86697506	86697506	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacagaaggactcacctgtgTtttgccgcttctttcacttc	7	12	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:86697506T>G	uc002sri.3	+	11	2026	c.1699T>G	c.(1699-1701)TTT>GTT	p.F567V	KDM3A_uc010ytj.1_Missense_Mutation_p.F567V|KDM3A_uc010ytk.1_Missense_Mutation_p.F515V	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	567					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						CTCACCTGTGTTTTGCCGCTT	0.458													G	86697506	T	G	86697506	3	3	158	1	0	0	0	0	1	0	0	0	8126	1725	60	5	1737	5	KDM3A	2	86697506	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	345375	86697506	156501867	374	84155											
KDM3A	55818	broad.mit.edu	37	chr2	86709698	86709698	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggactaaccatcaagcccAgcattctgggctttgacact	8	12	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:86709698A>G	uc002sri.3	+	18	3130	c.2803A>G	c.(2803-2805)AGC>GGC	p.S935G	KDM3A_uc010ytj.1_Missense_Mutation_p.S935G|KDM3A_uc010ytk.1_Missense_Mutation_p.S883G	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	935					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						CATcaagcccagcattctggg	0.269													G	86709698	A	G	86709698	3	3	158	1	0	0	0	0	1	0	0	0	8126	188	7	3	2869	3	KDM3A	2	86709698	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	12192	86709698	156489675	375	84156											
VPS24	51652	broad.mit.edu	37	chr2	86737479	86737479	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagggctagccccaagtcAccttcatcatttctttggac	8	13	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:86737479A>G	uc002srj.2	-	4	537	c.408_splice	c.e4+1	p.K136_splice	VPS24_uc002srk.2_Splice_Site_p.K70_splice|VPS24_uc002srl.2_Splice_Site_p.K96_splice|VPS24_uc010ytl.1_Splice_Site_p.K165_splice	NM_016079	NP_057163	Q9Y3E7	CHMP3_HUMAN	vacuolar protein sorting 24 isoform 1						cell cycle|cell division|cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			central_nervous_system(1)	1						GCCCCAAGTCACCTTCATCAT	0.502													G	86737479	A	G	86737479	5	3	158	1	0	0	0	0	0	0	1	0	17192	173	6	3	270	3	VPS24	2	86737479	Splice_Site	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	27781	86737479	156461894	376	84157											
ADRA2B	151	broad.mit.edu	37	chr2	96781640	96781640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggtacacctcgcaccaCgtgcgccggaagtaccagta	11	15	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:96781640C>T	uc002svi.2	-	1	249	c.249G>A	c.(247-249)ACG>ACA	p.T83T		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	83	Extracellular (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CCTCGCACCACGTGCGCCGGA	0.667													T	96781640	C	T	96781640	2	4	158	1	0	0	0	0	0	0	0	1	338	523	19	1		1	ADRA2B	2	96781640	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	10044161	96781640	146417733	377	84158											
SNRNP200	23020	broad.mit.edu	37	chr2	96949574	96949574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtgcagctccaaggggaCgggacgcacattgggatgga	17	8	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:96949574C>T	uc002svu.2	-	32	4647	c.4561G>A	c.(4561-4563)GTC>ATC	p.V1521I	SNRNP200_uc002svt.2_Missense_Mutation_p.V131I|SNRNP200_uc010yuj.1_RNA|SNRNP200_uc002svv.1_Missense_Mutation_p.V48I	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1521						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						TCCAAGGGGACGGGACGCACA	0.582													T	96949574	C	T	96949574	3	4	158	1	0	0	0	0	1	0	0	0	14852	536	19	1	1905	1	SNRNP200	2	96949574	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	167934	96949574	146249799	378	84159											
CNNM4	26504	broad.mit.edu	37	chr2	97427678	97427678	+	Frame_Shift_Del	DEL	C	C	-													ttctttatgctactcaccttCcccctcagttttcccattag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:97427677_97427677TC>T	uc002swx.3	+	0	1039	c.941_941TC>T	c.(940-942)ttcfs	p.F314fs		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	314	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CTACTCACCTTCCCCCTCAGT	0.522													-	97427678	C	-	97427678	7	5	158	1	0	1	0	1	0	0	0	0	3615	854	30	0	944	0	CNNM4	2	97427678	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	478104	97427678	145771695	379	84160											
SEMA4C	54910	broad.mit.edu	37	chr2	97526493	97526493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccctcctagttgtaagCgcacgtaaccattggcattt	7	14	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:97526493C>T	uc002sxh.3	-	15	2532	c.2372G>A	c.(2371-2373)CGC>CAC	p.R791H	ANKRD39_uc002sxd.3_5'Flank|SEMA4C_uc002sxf.3_Missense_Mutation_p.R291H|SEMA4C_uc002sxe.2_Missense_Mutation_p.R332H|SEMA4C_uc002sxg.3_Missense_Mutation_p.R844H	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	semaphorin 4C precursor	791	Cytoplasmic (Potential).				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			skin(2)	2						TAGTTGTAAGCGCACGTAACC	0.652													T	97526493	C	T	97526493	3	4	158	1	0	0	0	0	1	0	0	0	14033	768	27	1	133	1	SEMA4C	2	97526493	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	98815	97526493	145672880	380	84161											
INPP4A	3631	broad.mit.edu	37	chr2	99204009	99204009	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcatttaattccctgcagCtgaaggctttccccaagcat	7	12	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:99204009C>T	uc002syy.2	+	26	3265	c.2872C>T	c.(2872-2874)CTG>TTG	p.L958L	INPP4A_uc010yvk.1_Silent_p.L919L|INPP4A_uc002syx.2_Silent_p.L953L|INPP4A_uc010fik.2_Silent_p.L287L	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type 1	958					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			kidney(1)	1						TTCCCTGCAGCTGAAGGCTTT	0.418													T	99204009	C	T	99204009	2	4	158	1	0	0	0	0	0	0	0	1	7752	796	28	2		2	INPP4A	2	99204009	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1677516	99204009	143995364	381	84162											
MGAT4A	11320	broad.mit.edu	37	chr2	99256419	99256419	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtagatacctccgcaggtgGgtttacatggattttaagaa	11	6	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:99256419G>T	uc002sze.2	-	12	1488	c.1174C>A	c.(1174-1176)CCA>ACA	p.P392T	C2orf64_uc002sza.2_Intron|MGAT4A_uc010yvm.1_Missense_Mutation_p.P264T|MGAT4A_uc010fil.2_Missense_Mutation_p.P146T	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	alpha-1,3-mannosyl-glycoprotein	392	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			skin(1)	1						TCCGCAGGTGGGTTTACATGG	0.388													T	99256419	G	T	99256419	3	4	158	1	0	0	0	0	1	0	0	0	9545	1232	43	5	532	5	MGAT4A	2	99256419	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	52410	99256419	143942954	382	84163											
AFF3	3899	broad.mit.edu	37	chr2	100210285	100210285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccacgctcgtccccagcGcgtccgcggccgcgggctcc	12	22	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:100210285G>A	uc002tag.2	-	14	2074	c.1838C>T	c.(1837-1839)GCG>GTG	p.A613V	AFF3_uc002taf.2_Missense_Mutation_p.A638V|AFF3_uc010fiq.1_Missense_Mutation_p.A613V|AFF3_uc010yvr.1_Missense_Mutation_p.A766V|AFF3_uc002tah.1_Missense_Mutation_p.A638V	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	613					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						CGTCCCCAGCGCGTCCGCGGC	0.736													A	100210285	G	A	100210285	3	1	158	1	0	0	0	0	1	0	0	0	358	1087	38	1	1886	1	AFF3	2	100210285	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	953866	100210285	142989088	383	84164											
PDCL3	79031	broad.mit.edu	37	chr2	101185442	101185442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctggaggatcatgaagaCgagtttaatgaggaggatga	16	3	1	4	rs145022980		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:101185442C>T	uc002tao.2	+	3	295	c.183C>T	c.(181-183)GAC>GAT	p.D61D		NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	61					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding				0						ATCATGAAGACGAGTTTAATG	0.328													T	101185442	C	T	101185442	2	4	158	1	0	0	0	0	0	0	0	1	11628	535	19	1		1	PDCL3	2	101185442	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	975157	101185442	142013931	384	84165											
MAP4K4	9448	broad.mit.edu	37	chr2	102486131	102486131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcagtggaagatgtacgGccacctcacaaagtaacgga	12	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:102486131G>A	uc002tbg.2	+	20	2323	c.2268G>A	c.(2266-2268)CGG>CGA	p.R756R	MAP4K4_uc002tbc.2_Silent_p.R837R|MAP4K4_uc002tbd.2_Silent_p.R729R|MAP4K4_uc002tbe.2_Silent_p.R675R|MAP4K4_uc002tbf.2_Silent_p.R726R|MAP4K4_uc010yvy.1_Silent_p.R752R|MAP4K4_uc002tbh.2_Silent_p.R674R|MAP4K4_uc002tbi.2_Silent_p.R559R|MAP4K4_uc010yvz.1_Silent_p.R732R|MAP4K4_uc002tbk.2_Silent_p.R211R|MAP4K4_uc002tbl.2_5'UTR	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	756					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						AAGATGTACGGCCACCTCACA	0.557													A	102486131	G	A	102486131	2	1	158	1	0	0	0	0	0	0	0	1	9262	1190	42	2		2	MAP4K4	2	102486131	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1300689	102486131	140713242	385	84166											
IL1R2	7850	broad.mit.edu	37	chr2	102641109	102641109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgcctacccgggaggccGcgtgaccgaggggccacgcc	17	16	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:102641109G>A	uc002tbm.2	+	7	1095	c.866G>A	c.(865-867)CGC>CAC	p.R289H	IL1R2_uc002tbn.2_Missense_Mutation_p.R289H|IL1R2_uc002tbo.1_Missense_Mutation_p.R289H	NM_004633	NP_004624	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II precursor	289	Extracellular (Potential).|Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			ovary(1)|breast(1)	2					Anakinra(DB00026)	CCGGGAGGCCGCGTGACCGAG	0.577													A	102641109	G	A	102641109	3	1	158	1	0	0	0	0	1	0	0	0	7659	1087	38	1	888	1	IL1R2	2	102641109	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	154978	102641109	140558264	386	84167											
FHL2	2274	broad.mit.edu	37	chr2	105990123	105990123	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaagggcttgtccaccAgtgagtttctgcactgcgag	12	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:105990123A>G	uc002tcu.2	-	3	561	c.224T>C	c.(223-225)CTG>CCG	p.L75P	FHL2_uc002tdc.2_Intron|FHL2_uc002tdd.2_Missense_Mutation_p.L75P|FHL2_uc002tcv.2_Missense_Mutation_p.L75P|FHL2_uc002tcw.2_Missense_Mutation_p.L75P|FHL2_uc002tcx.2_Missense_Mutation_p.L75P|FHL2_uc010fje.2_Intron|FHL2_uc002tcy.2_Missense_Mutation_p.L75P|FHL2_uc002tcz.2_Missense_Mutation_p.L185P|FHL2_uc002tda.2_Intron|FHL2_uc002tdb.2_Missense_Mutation_p.L191P|FHL2_uc002tde.1_Missense_Mutation_p.L168P	NM_201557	NP_963851	Q14192	FHL2_HUMAN	four and a half LIM domains 2	75	LIM zinc-binding 1.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding	p.L75L(1)		ovary(1)	1						CTTGTCCACCAGTGAGTTTCT	0.542													G	105990123	A	G	105990123	3	3	158	1	0	0	0	0	1	0	0	0	5879	188	7	3	631	3	FHL2	2	105990123	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	3349014	105990123	137209250	387	84168											
NCK2	8440	broad.mit.edu	37	chr2	106471695	106471695	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccaactacgtggagcggaAgaacagcctgaagaagggct	14	9	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:106471695A>C	uc002tdg.2	+	3	618	c.176A>C	c.(175-177)AAG>ACG	p.K59T	NCK2_uc002tdh.2_Missense_Mutation_p.K59T|NCK2_uc002tdi.2_Missense_Mutation_p.K59T	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	59	SH3 1.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			ovary(1)|lung(1)	2						GTGGAGCGGAAGAACAGCCTG	0.577													C	106471695	A	C	106471695	3	2	158	1	0	0	0	0	1	0	0	0	10220	72	3	5	178	5	NCK2	2	106471695	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	481572	106471695	136727678	388	84169											
NCK2	8440	broad.mit.edu	37	chr2	106497875	106497875	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgccaatggcagcggcgcCgaccgcatctacgacctcaa	10	18	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:106497875C>T	uc002tdg.2	+	4	760	c.318C>T	c.(316-318)GCC>GCT	p.A106A	NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Silent_p.A106A	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	106					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			ovary(1)|lung(1)	2						GCAGCGGCGCCGACCGCATCT	0.682													T	106497875	C	T	106497875	2	4	158	1	0	0	0	0	0	0	0	1	10220	639	23	1		1	NCK2	2	106497875	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	26180	106497875	136701498	389	84170											
SLC5A7	60482	broad.mit.edu	37	chr2	108604753	108604753	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccatcatagttggtggccgaGatattggtttattggttggt	13	5	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:108604753G>T	uc002tdv.2	+	2	418	c.142G>T	c.(142-144)GAT>TAT	p.D48Y	SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.D48Y|SLC5A7_uc010ywn.1_Intron	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	48	Extracellular (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4					Choline(DB00122)	TGGTGGCCGAGATATTGGTTT	0.527													T	108604753	G	T	108604753	3	4	158	1	0	0	0	0	1	0	0	0	14670	942	33	5	144	5	SLC5A7	2	108604753	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2106878	108604753	134594620	390	84171											
CCDC138	165055	broad.mit.edu	37	chr2	109411082	109411082	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctttgaaacctgtcagcTgtccaaaatctaaagcatca	5	12	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:109411082T>G	uc002ten.1	+	5	541	c.481T>G	c.(481-483)TGT>GGT	p.C161G	CCDC138_uc002teo.1_Missense_Mutation_p.C161G|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	161											0						ACCTGTCAGCTGTCCAAAATC	0.418													G	109411082	T	G	109411082	3	3	158	1	0	0	0	0	1	0	0	0	2772	1580	55	5	499	5	CCDC138	2	109411082	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	806329	109411082	133788291	391	84172											
ANKRD57	65124	broad.mit.edu	37	chr2	110373120	110373120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacttggcagccatgcacGgccacgtggaggtggtgaag	16	10	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:110373120G>A	uc002tfb.2	+	1	1210	c.1054G>A	c.(1054-1056)GGC>AGC	p.G352S	SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank	NM_023016	NP_075392	Q53LP3	ANR57_HUMAN	ankyrin repeat domain 57	352	ANK 2.										0						AGCCATGCACGGCCACGTGGA	0.622													A	110373120	G	A	110373120	3	1	158	1	0	0	0	0	1	0	0	0	683	1116	39	1	1056	1	ANKRD57	2	110373120	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	962038	110373120	132826253	392	84173											
BUB1	699	broad.mit.edu	37	chr2	111399006	111399006	+	Frame_Shift_Del	DEL	T	T	-													acaagaccttgaggcatcacTttttcaggggtatttttata							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:111399005_111399005CT>C	uc002tgc.3	-	21	2774	c.2662_2662AG>G	c.(2662-2664)gtgfs	p.V888fs	BUB1_uc010yxh.2_Frame_Shift_Del_p.V868fs|BUB1_uc010fkb.3_Intron	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	888	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGAGGCATCACTTTTTCAGGG	0.358													-	111399006	T	-	111399006	7	5	158	1	0	1	0	1	0	0	0	0	1570	1606	56	0	612	0	BUB1	2	111399006	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	1025886	111399006	131800367	393	84174											
TMEM87B	84910	broad.mit.edu	37	chr2	112865400	112865400	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggtagaagaaaatattccCtcttcattcacagatgtgta	8	7	3	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:112865400C>A	uc002thm.2	+	17	1929	c.1560C>A	c.(1558-1560)CCC>CCA	p.P520P		NM_032824	NP_116213	Q96K49	TM87B_HUMAN	transmembrane protein 87B precursor	520						integral to membrane					0						AAAATATTCCCTCTTCATTCA	0.323													A	112865400	C	A	112865400	2	1	158	1	0	0	0	0	0	0	0	1	16208	668	24	5		5	TMEM87B	2	112865400	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1466394	112865400	130333973	394	84175											
PSD4	23550	broad.mit.edu	37	chr2	113951497	113951497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaatgggctgagggatgGcgggaacttccccaaggagc	16	10	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:113951497G>A	uc002tjc.2	+	10	2336	c.2153G>A	c.(2152-2154)GGC>GAC	p.G718D	PSD4_uc002tjd.2_Missense_Mutation_p.G339D|PSD4_uc002tje.2_Missense_Mutation_p.G689D|PSD4_uc002tjf.2_Missense_Mutation_p.G339D	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	718	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						CTGAGGGATGGCGGGAACTTC	0.537													A	113951497	G	A	113951497	3	1	158	1	0	0	0	0	1	0	0	0	12649	1203	42	2	2187	2	PSD4	2	113951497	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1086097	113951497	129247876	395	84176											
DDX18	8886	broad.mit.edu	37	chr2	118582216	118582216	+	Frame_Shift_Del	DEL	A	A	-													acctggcaaggatttctctgAaaaaggagccattgtatgtt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:118582215_118582215GA>G	uc002tlh.1	+	7	1236	c.1137_1137GA>G	c.(1135-1137)ctgfs	p.L379fs		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.	379	Helicase ATP-binding.						ATP binding|ATP-dependent RNA helicase activity|RNA binding	p.S378Y(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGATTTCTCTGAAAAAGGAGC	0.398													-	118582216	A	-	118582216	7	5	158	1	0	1	0	1	0	0	0	0	4345	247	9	0	1168	0	DDX18	2	118582216	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	4630719	118582216	124617157	396	84177											
MARCO	8685	broad.mit.edu	37	chr2	119726815	119726815	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcctgctcaccgctggCgctgggctgctggtggtcca	14	14	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:119726815C>T	uc002tln.1	+	2	309	c.177C>T	c.(175-177)GGC>GGT	p.G59G	MARCO_uc010yyf.1_5'UTR	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	59	Helical; Signal-anchor for type II membrane protein; (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|skin(2)|central_nervous_system(1)	6						TCACCGCTGGCGCTGGGCTGC	0.597													T	119726815	C	T	119726815	2	4	158	1	0	0	0	0	0	0	0	1	9311	755	27	1		1	MARCO	2	119726815	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1144599	119726815	123472558	397	84178											
STEAP3	55240	broad.mit.edu	37	chr2	120005392	120005392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcccctgcgcctcctcccGgcctggaaggtgcccaccct	10	20	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:120005392G>A	uc002tlp.2	+	4	787	c.630G>A	c.(628-630)CCG>CCA	p.P210P	STEAP3_uc002tlq.2_Silent_p.P220P|STEAP3_uc002tlr.2_Silent_p.P210P|STEAP3_uc010fle.2_Silent_p.P210P	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	210	Helical; (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			central_nervous_system(2)|skin(1)	3						GCCTCCTCCCGGCCTGGAAGG	0.657													A	120005392	G	A	120005392	2	1	158	1	0	0	0	0	0	0	0	1	15278	1103	39	1		1	STEAP3	2	120005392	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	278577	120005392	123193981	398	84179											
EPB41L5	57669	broad.mit.edu	37	chr2	120849180	120849180	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaataaagcaagaagatcaAcatcctttgaaagaaggccc	7	10	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:120849180A>G	uc002tmg.2	+	13	1219	c.1093A>G	c.(1093-1095)ACA>GCA	p.T365A	EPB41L5_uc010flk.2_Missense_Mutation_p.T365A|EPB41L5_uc010fll.2_Missense_Mutation_p.T365A|EPB41L5_uc002tmh.3_Missense_Mutation_p.T365A|EPB41L5_uc010flm.2_Missense_Mutation_p.T169A	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	365						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1						AAGAAGATCAACATCCTTTGA	0.368													G	120849180	A	G	120849180	3	3	158	1	0	0	0	0	1	0	0	0	5157	43	2	3	1139	3	EPB41L5	2	120849180	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	843788	120849180	122350193	399	84180											
GLI2	2736	broad.mit.edu	37	chr2	121684974	121684974	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccattccatgcgcccctAccgattgacatgcgacacca	6	18	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:121684974A>G	uc010flp.2	+	2	216	c.186A>G	c.(184-186)CTA>CTG	p.L62L	GLI2_uc010yyu.1_Silent_p.L62L|GLI2_uc002tmp.1_Silent_p.L62L|GLI2_uc010fln.1_RNA|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Silent_p.L62L|GLI2_uc010flo.1_Intron|GLI2_uc002tmw.1_Silent_p.L62L	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	62					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				ATGCGCCCCTACCGATTGACA	0.552													G	121684974	A	G	121684974	2	3	158	1	0	0	0	0	0	0	0	1	6438	378	14	3		3	GLI2	2	121684974	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	835794	121684974	121514399	400	84181											
GLI2	2736	broad.mit.edu	37	chr2	121742161	121742161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacgtcaccaagaagcagCgcaatgacgtgcacctccgc	9	17	1	2	rs113407742		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:121742161C>T	uc010flp.2	+	11	1828	c.1798C>T	c.(1798-1800)CGC>TGC	p.R600C	GLI2_uc002tmq.1_Missense_Mutation_p.R272C|GLI2_uc002tmr.1_Missense_Mutation_p.R255C|GLI2_uc002tmt.3_Missense_Mutation_p.R272C|GLI2_uc002tmu.3_Missense_Mutation_p.R255C|GLI2_uc002tmw.1_Missense_Mutation_p.R583C	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	600					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				CAAGAAGCAGCGCAATGACGT	0.627													T	121742161	C	T	121742161	3	4	158	1	0	0	0	0	1	0	0	0	6438	768	27	1	1840	1	GLI2	2	121742161	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	57187	121742161	121457212	401	84182											
CNTNAP5	129684	broad.mit.edu	37	chr2	125660579	125660579	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccctgcgccatgccactgTcgcgcctgtgactgtccatg	11	16	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:125660579T>C	uc002tno.2	+	22	3918	c.3554T>C	c.(3553-3555)GTC>GCC	p.V1185A	CNTNAP5_uc010flu.2_Missense_Mutation_p.V1186A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	1185	Extracellular (Potential).|Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CATGCCACTGTCGCGCCTGTG	0.537													C	125660579	T	C	125660579	3	2	158	1	0	0	0	0	1	0	0	0	3650	1667	58	3	3640	3	CNTNAP5	2	125660579	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	3918418	125660579	117538794	402	84183											
PROC	5624	broad.mit.edu	37	chr2	128186274	128186274	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgaggtcatgagcaacAtggtgtctgagaacatgctg	14	8	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:128186274A>G	uc002tok.2	+	9	1211	c.1138A>G	c.(1138-1140)ATG>GTG	p.M380V	PROC_uc002tol.2_Missense_Mutation_p.M401V|PROC_uc010yzi.1_Missense_Mutation_p.M436V|PROC_uc010yzj.1_Missense_Mutation_p.M275V|PROC_uc010yzk.1_Missense_Mutation_p.M435V|PROC_uc002tom.2_Missense_Mutation_p.M414V	NM_000312	NP_000303	P04070	PROC_HUMAN	protein C	380	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CATGAGCAACATGGTGTCTGA	0.617													G	128186274	A	G	128186274	3	3	158	1	0	0	0	0	1	0	0	0	12545	217	8	3	1168	3	PROC	2	128186274	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	2525695	128186274	115013099	403	84184											
GPR17	2840	broad.mit.edu	37	chr2	128409243	128409243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacgccctgtgcaacttgCtctgtggcaaaaggctcaag	11	13	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:128409243C>T	uc010yzn.1	+	4	1629	c.1018C>T	c.(1018-1020)CTC>TTC	p.L340F	LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.L340F|GPR17_uc010yzo.1_Missense_Mutation_p.L312F|GPR17_uc002tpd.2_Missense_Mutation_p.L312F	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN	G protein-coupled receptor 17 isoform a	340	Cytoplasmic (Potential).					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		GTGCAACTTGCTCTGTGGCAA	0.612													T	128409243	C	T	128409243	3	4	158	1	0	0	0	0	1	0	0	0	6667	797	28	2	1024	2	GPR17	2	128409243	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	222969	128409243	114790130	404	84185											
WDR33	55339	broad.mit.edu	37	chr2	128477600	128477600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatgcatgtcctgaggccGtggcaacccctggggcgggc	15	15	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:128477600G>A	uc002tpg.1	-	16	2182	c.1999C>T	c.(1999-2001)CGG>TGG	p.R667W		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	667	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCTGAGGCCGTGGCAACCCC	0.637													A	128477600	G	A	128477600	3	1	158	1	0	0	0	0	1	0	0	0	17284	1144	40	1	2039	1	WDR33	2	128477600	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	68357	128477600	114721773	405	84186											
FAM128A	653784	broad.mit.edu	37	chr2	132241709	132241709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcgctgggctggcgtggCatcctctggctggatccctc	15	13	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:132241709C>T	uc002tsw.3	-	3	517	c.402G>A	c.(400-402)ATG>ATA	p.M134I	FAM128A_uc002tsv.3_RNA	NM_001085365	NP_001078834	Q6P582	MZT2A_HUMAN	hypothetical protein LOC653784	134						centrosome|gamma-tubulin ring complex|spindle					0				BRCA - Breast invasive adenocarcinoma(221;0.13)		GCTGGCGTGGCATCCTCTGGC	0.647													T	132241709	C	T	132241709	3	4	158	1	0	0	0	0	1	0	0	0	5434	710	25	2	78	2	FAM128A	2	132241709	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	3764109	132241709	110957664	406	84187											
LYPD1	116372	broad.mit.edu	37	chr2	133427493	133427493	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaaagttgccgcgatgcCtaggacccacattctcccgg	10	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:133427493C>A	uc002ttn.2	-	1	989	c.13G>T	c.(13-15)GGC>TGC	p.G5C	LYPD1_uc002ttm.3_Splice_Site_p.S21_splice|LYPD1_uc002tto.2_Intron	NM_144586	NP_653187	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1 isoform a	5						anchored to membrane|plasma membrane					0						GCCGCGATGCCTAGGACCCAC	0.652													A	133427493	C	A	133427493	3	1	158	1	0	0	0	0	1	0	0	0	9109	681	24	5	424	5	LYPD1	2	133427493	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1185784	133427493	109771880	407	84188											
ZRANB3	84083	broad.mit.edu	37	chr2	135988450	135988450	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaactgtctttttttaggTtgtggtacaaaaaatgatcg	8	5	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:135988450T>C	uc002tum.2	-	13	1704	c.1587A>G	c.(1585-1587)CAA>CAG	p.Q529Q	ZRANB3_uc002tuk.2_Silent_p.Q72Q|ZRANB3_uc002tul.2_Silent_p.Q529Q	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	529						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)		TTTTTTTAGGTTGTGGTACAA	0.363													C	135988450	T	C	135988450	2	2	158	1	0	0	0	0	0	0	0	1	18221	1722	60	3		3	ZRANB3	2	135988450	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	2560957	135988450	107210923	408	84189											
LCT	3938	broad.mit.edu	37	chr2	136566784	136566784	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaacaaaagtctgcgtAgctgtcaaacaagtcaatca	8	9	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:136566784A>G	uc002tuu.1	-	8	3144	c.3133T>C	c.(3133-3135)TAC>CAC	p.Y1045H		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1045	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		AAGTCTGCGTAGCTGTCAAAC	0.498													G	136566784	A	G	136566784	3	3	158	1	0	0	0	0	1	0	0	0	8693	420	15	3	2690	3	LCT	2	136566784	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	578334	136566784	106632589	409	84190											
THSD7B	80731	broad.mit.edu	37	chr2	137928468	137928468	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatcatggaaaatgtggcctGggacatcgtattctgaaggc	13	7	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:137928468G>T	uc002tva.1	+	6	1590	c.1590G>T	c.(1588-1590)CTG>CTT	p.L530L	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.L420L	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATGTGGCCTGGGACATCGTA	0.502													T	137928468	G	T	137928468	2	4	158	1	0	0	0	0	0	0	0	1	15877	1335	47	5		5	THSD7B	2	137928468	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1361684	137928468	105270905	410	84191											
LRP1B	53353	broad.mit.edu	37	chr2	141115623	141115624	+	Frame_Shift_Ins	INS	-	-	T													tggagatccatagggatgcaINSttttttattactacaagcaa							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:141115623_141115624insT	uc002tvj.1	-	74	12291_12292	c.11319_11320insA	c.(11317-11322)AAATGCfs	p.K3773fs		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3773_3774	Extracellular (Potential).|LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATAGGGATGCATTTTTTATTAC	0.386										TSP Lung(27;0.18)			T	141115624	-	T	141115623	7	5	158	1	0	1	1	0	0	0	0	0	8955	217	8	0	2551	0	LRP1B	2	141115623	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	3187155	141115623	102083750	411	84192	420	2									
LRP1B	53353	broad.mit.edu	37	chr2	141115624	141115625	+	Frame_Shift_Ins	INS	-	-	T													ggagatccatagggatgcatINStttttattactacaagcaaa							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:141115623_141115624A>AT	uc002tvj.1	-	73	12291_12292	c.11319_11320T>AT	c.(11317-11322)aaatgcfs	p.K3773fs		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3773	LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATAGGGATGCATTTTTTATTAC	0.386										TSP Lung(27;0.18)			T	141115625	-	T	141115624	7	5	158	1	0	1	1	0	0	0	0	0	8955	1490	52	0	2552	0	LRP1B	2	141115624	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	1	141115624	102083749	412	84193	420	2									
LRP1B	53353	broad.mit.edu	37	chr2	141660497	141660497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagttacttaccaacacttGtacaactttcaccgtctaca	3	12	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:141660497G>A	uc002tvj.1	-	23	4730	c.3758C>T	c.(3757-3759)ACA>ATA	p.T1253I	LRP1B_uc010fnl.1_Missense_Mutation_p.T435I	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1253	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCAACACTTGTACAACTTTC	0.368										TSP Lung(27;0.18)			A	141660497	G	A	141660497	3	1	158	1	0	0	0	0	1	0	0	0	8955	1377	48	4	10317	4	LRP1B	2	141660497	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	544873	141660497	101538876	413	84194											
NEB	4703	broad.mit.edu	37	chr2	152534219	152534219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttttaactttttcgacgtCgagactgccaataggaatcc	7	10	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:152534219C>T	uc010fnx.2	-	34	3825	c.3634G>A	c.(3634-3636)GAC>AAC	p.D1212N		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1212	Nebulin 30.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTTCGACGTCGAGACTGCCA	0.463													T	152534219	C	T	152534219	3	4	158	1	0	0	0	0	1	0	0	0	10302	884	31	1	22648	1	NEB	2	152534219	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	10873722	152534219	90665154	414	84195											
CACNB4	785	broad.mit.edu	37	chr2	152695797	152695797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggttcctactcttccgagCcctttcattgtgataatttt	7	11	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:152695797C>T	uc002tya.2	-	14	1467	c.1399G>A	c.(1399-1401)GCT>ACT	p.A467T	CACNB4_uc002txy.2_Missense_Mutation_p.A433T|CACNB4_uc002txz.2_Missense_Mutation_p.A449T|CACNB4_uc010fnz.2_Missense_Mutation_p.A405T	NM_000726	NP_000717	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4	467					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	CTCTTCCGAGCCCTTTCATTG	0.453													T	152695797	C	T	152695797	3	4	158	1	0	0	0	0	1	0	0	0	2555	739	26	2	167	2	CACNB4	2	152695797	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	161578	152695797	90503576	415	84196											
NR4A2	4929	broad.mit.edu	37	chr2	157182439	157182439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccattgttgaaagtcacGtggtctttgagacaatttac	8	10	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:157182439G>A	uc002tyz.3	-	8	2036	c.1614C>T	c.(1612-1614)CAC>CAT	p.H538H	NR4A2_uc002tyx.3_Silent_p.H475H|NR4A2_uc010zcf.1_Silent_p.H538H	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	538					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						TGAAAGTCACGTGGTCTTTGA	0.463													A	157182439	G	A	157182439	2	1	158	1	0	0	0	0	0	0	0	1	10633	1136	40	1		1	NR4A2	2	157182439	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4486642	157182439	86016934	416	84197											
NR4A2	4929	broad.mit.edu	37	chr2	157185040	157185040	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattttgcatttttttgcacTgtgcgctgcaaaaggagaca	9	7	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:157185040T>G	uc002tyz.3	-	4	1292	c.870A>C	c.(868-870)ACA>ACC	p.T290T	NR4A2_uc002tyx.3_Silent_p.T227T|NR4A2_uc010zcf.1_Silent_p.T290T|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	290	Nuclear receptor.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						TTTTTTGCACTGTGCGCTGCA	0.423													G	157185040	T	G	157185040	2	3	158	1	0	0	0	0	0	0	0	1	10633	1567	55	5		5	NR4A2	2	157185040	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	2601	157185040	86014333	417	84198											
GALNT5	11227	broad.mit.edu	37	chr2	158162273	158162273	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctttttagcttattaatgtgGctttgggtaaatgcatttcc	8	6	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:158162273G>C	uc002tzg.2	+	8	2707	c.2452G>C	c.(2452-2454)GCT>CCT	p.A818P	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	818	Lumenal (Potential).|Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4						TATTAATGTGGCTTTGGGTAA	0.323													C	158162273	G	C	158162273	3	2	158	1	0	0	0	0	1	0	0	0	6216	1203	42	5	2482	5	GALNT5	2	158162273	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	977233	158162273	85037100	418	84199											
CYTIP	9595	broad.mit.edu	37	chr2	158272539	158272539	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccagctcttacagctgcTctcactggataatcgattcc	7	14	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:158272539T>G	uc002tzj.1	-	8	802	c.730A>C	c.(730-732)AGC>CGC	p.S244R	CYTIP_uc010zcl.1_Missense_Mutation_p.S138R	NM_004288	NP_004279	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	244	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			ovary(1)|kidney(1)|skin(1)	3						TTACAGCTGCTCTCACTGGAT	0.557													G	158272539	T	G	158272539	3	3	158	1	0	0	0	0	1	0	0	0	4207	1551	54	5	353	5	CYTIP	2	158272539	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	110266	158272539	84926834	419	84200											
PKP4	8502	broad.mit.edu	37	chr2	159481597	159481597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacattacctgctgcacggGcagcctctccgtactcacag	8	17	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:159481597G>A	uc002tzv.2	+	7	1071	c.811G>A	c.(811-813)GCA>ACA	p.A271T	PKP4_uc002tzt.1_Missense_Mutation_p.A123T|PKP4_uc002tzu.2_Missense_Mutation_p.A271T|PKP4_uc002tzw.2_Missense_Mutation_p.A271T|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.A269T|PKP4_uc002uaa.2_Missense_Mutation_p.A123T	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	271					cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						TGCTGCACGGGCAGCCTCTCC	0.602										HNSCC(62;0.18)			A	159481597	G	A	159481597	3	1	158	1	0	0	0	0	1	0	0	0	11987	1203	42	2	833	2	PKP4	2	159481597	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1209058	159481597	83717776	420	84201											
BAZ2B	29994	broad.mit.edu	37	chr2	160193529	160193529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctacctgtgcagcactgCgagcttctgataatgccctt	10	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:160193529C>T	uc002uao.2	-	33	6072	c.5720G>A	c.(5719-5721)CGC>CAC	p.R1907H	BAZ2B_uc002uap.2_Missense_Mutation_p.R1871H	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1907					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						TGCAGCACTGCGAGCTTCTGA	0.373													T	160193529	C	T	160193529	3	4	158	1	0	0	0	0	1	0	0	0	1332	768	27	1	806	1	BAZ2B	2	160193529	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	711932	160193529	83005844	421	84202											
BAZ2B	29994	broad.mit.edu	37	chr2	160206342	160206342	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggagtcaccaaagaagcAgttgacatatcggcatgagt	12	7	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:160206342A>C	uc002uao.2	-	28	5092	c.4740T>G	c.(4738-4740)ACT>ACG	p.T1580T	BAZ2B_uc002uap.2_Silent_p.T1544T	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						CCAAAGAAGCAGTTGACATAT	0.448													C	160206342	A	C	160206342	2	2	158	1	0	0	0	0	0	0	0	1	1332	175	7	5		5	BAZ2B	2	160206342	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	12813	160206342	82993031	422	84203											
BAZ2B	29994	broad.mit.edu	37	chr2	160335108	160335108	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgggttgattgtagagctAagtgaagcaactccagtgga	13	6	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:160335108A>G	uc002uao.2	-	3	475	c.123T>C	c.(121-123)CTT>CTC	p.L41L	BAZ2B_uc002uap.2_Silent_p.L41L|BAZ2B_uc002uas.1_Silent_p.L41L|BAZ2B_uc002uau.1_Silent_p.L41L|BAZ2B_uc002uat.3_Silent_p.L41L|BAZ2B_uc010fop.1_Silent_p.L41L	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						TTGTAGAGCTAAGTGAAGCAA	0.388													G	160335108	A	G	160335108	2	3	158	1	0	0	0	0	0	0	0	1	1332	349	13	3		3	BAZ2B	2	160335108	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	128766	160335108	82864265	423	84204											
KCNH7	90134	broad.mit.edu	37	chr2	163228379	163228379	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcagaaacatgcctatgaAgacccacgattcctacagtg	8	11	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:163228379A>C	uc002uch.1	-	16	3763	c.3551T>G	c.(3550-3552)CTT>CGT	p.L1184R		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	1184	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	ATGCCTATGAAGACCCACGAT	0.398													C	163228379	A	C	163228379	3	2	158	1	0	0	0	0	1	0	0	0	8037	72	3	5	43	5	KCNH7	2	163228379	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	2893271	163228379	79970994	424	84205											
KCNH7	90134	broad.mit.edu	37	chr2	163374321	163374321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggaccgaagatgctctccGtatactacataagctttccc	7	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:163374321G>A	uc002uch.1	-	4	1023	c.811C>T	c.(811-813)CGG>TGG	p.R271W	KCNH7_uc002uci.2_Missense_Mutation_p.R271W	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	271	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	GATGCTCTCCGTATACTACAT	0.468													A	163374321	G	A	163374321	3	1	158	1	0	0	0	0	1	0	0	0	8037	1144	40	1	2897	1	KCNH7	2	163374321	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	145942	163374321	79825052	425	84206											
FIGN	55137	broad.mit.edu	37	chr2	164467543	164467544	+	Frame_Shift_Ins	INS	-	-	C													gctgaaggcggaggcggtgcINSccccccagggctgtacccag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:164467542_164467543G>GC	uc002uck.1	-	2	1110_1111	c.799_800C>GC	c.(799-801)gcafs	p.A267fs		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	267	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.A267fs*100(4)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGAGGCGGTGCCCCCCCAGGG	0.609													C	164467544	-	C	164467543	7	5	158	1	0	1	1	0	0	0	0	0	5891	739	26	0	1484	0	FIGN	2	164467543	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	1093222	164467543	78731830	426	84207											
FIGN	55137	broad.mit.edu	37	chr2	164467697	164467697	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtagtagcccagagctAtgcaaaggagacggatgagg	16	7	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:164467697A>G	uc002uck.1	-	3	956	c.645T>C	c.(643-645)CAT>CAC	p.H215H		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	215	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						GCCCAGAGCTATGCAAAGGAG	0.532													G	164467697	A	G	164467697	2	3	158	1	0	0	0	0	0	0	0	1	5891	446	16	3		3	FIGN	2	164467697	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	154	164467697	78731676	427	84208											
FIGN	55137	broad.mit.edu	37	chr2	164468132	164468133	+	Frame_Shift_Ins	INS	-	-	T													cggaatacttctctgcatatINSttttttagtaggttggatgc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:164468131_164468132A>AT	uc002uck.1	-	2	521_522	c.210_211T>AT	c.(208-213)aaatatfs	p.K70fs		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	70						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TTCTCTGCATATTTTTTTAGTA	0.48													T	164468133	-	T	164468132	7	5	158	1	0	1	1	0	0	0	0	0	5891	1490	52	0	2073	0	FIGN	2	164468132	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	435	164468132	78731241	428	84209											
GRB14	2888	broad.mit.edu	37	chr2	165353943	165353944	+	Frame_Shift_Del	DEL	CT	CT	-													ttcagtgggattttctataaCtctgcttttctggcctgaga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:165353943_165353944delCT	uc002ucl.2	-	10	1702_1703	c.1161_1162delAG	c.(1159-1164)AGAGTTfs	p.R387fs	GRB14_uc010zcv.1_Frame_Shift_Del_p.R300fs|GRB14_uc002ucm.2_RNA	NM_004490	NP_004481	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	387_388					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						TTTTCTATAACTCTGCTTTTCT	0.381													-	165353944	CT	-	165353943	7	5	158	1	0	1	0	1	0	0	0	0	6757	565	20	0	480	0	GRB14	2	165353943	Frame_Shift_Del	DEL	CT	TCGA-CD-A4MG-01A-11D-A25D-08	885811	165353943	77845430	429	84210											
GRB14	2888	broad.mit.edu	37	chr2	165365340	165365340	+	Frame_Shift_Del	DEL	A	A	-													cactattgccaaattcgctgAaaaactgcaaatgccgcggt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:165365339_165365339GA>G	uc002ucl.3	-	6	1381	c.840_840TC>C	c.(838-840)ttcfs	p.F280fs	GRB14_uc010zcv.2_Frame_Shift_Del_p.F193fs	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	280	PH.				blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CAAATTCGCTGAAAAACTGCA	0.323													-	165365340	A	-	165365340	7	5	158	1	0	1	0	1	0	0	0	0	6757	246	9	0	815	0	GRB14	2	165365340	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	11397	165365340	77834033	430	84211											
SLC38A11	151258	broad.mit.edu	37	chr2	165754992	165754992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagaaagttgtgttgtctgCtgaacatgagactctgaggt	13	5	2	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:165754992C>T	uc002ucv.1	-	13	1713	c.1176G>A	c.(1174-1176)CAG>CAA	p.Q392Q	SLC38A11_uc002ucu.1_Silent_p.Q370Q|SLC38A11_uc002ucw.1_Silent_p.Q392Q	NM_173512	NP_775783	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	392	Cytoplasmic (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1						GTGTTGTCTGCTGAACATGAG	0.338													T	165754992	C	T	165754992	2	4	158	1	0	0	0	0	0	0	0	1	14603	796	28	2		2	SLC38A11	2	165754992	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	389652	165754992	77444381	431	84212											
SCN3A	6328	broad.mit.edu	37	chr2	166032691	166032691	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggggctctgacaccaTctctggaggaatgtctccat	10	13	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:166032691T>C	uc002ucx.2	-	3	706	c.214A>G	c.(214-216)ATG>GTG	p.M72V	SCN3A_uc002ucy.2_Missense_Mutation_p.M72V|SCN3A_uc002ucz.2_Missense_Mutation_p.M72V	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	72						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	TCTGACACCATCTCTGGAGGA	0.368													C	166032691	T	C	166032691	3	2	158	1	0	0	0	0	1	0	0	0	13918	1435	50	3	5988	3	SCN3A	2	166032691	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	277699	166032691	77166682	432	84213											
SCN1A	6323	broad.mit.edu	37	chr2	166848647	166848647	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttggaataggcagatcatgCtgttgccaaaggtctcaaag	11	7	2	1	rs121918816		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:166848647C>A	uc010zcz.1	-	26	5123	c.5105G>T	c.(5104-5106)AGC>ATC	p.S1702I		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1713	IV.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GCAGATCATGCTGTTGCCAAA	0.458													A	166848647	C	A	166848647	3	1	158	1	0	0	0	0	1	0	0	0	13914	797	28	5	895	5	SCN1A	2	166848647	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	815956	166848647	76350726	433	84214											
SCN1A	6323	broad.mit.edu	37	chr2	166894520	166894520	+	Frame_Shift_Del	DEL	A	A	-													agctgcatgccgaccacggcAaaaatgaagacgatgatggc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:166894519_166894519CA>C	uc002udo.4	-	16	2940	c.2713_2713TG>G	c.(2713-2715)gccfs	p.A905fs	SCN1A_uc010fpk.3_Frame_Shift_Del_p.A877fs|SCN1A_uc021vsb.1_Frame_Shift_Del_p.A894fs	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	905						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCGACCACGGCAAAAATGAAG	0.463													-	166894520	A	-	166894520	7	5	158	1	0	1	0	1	0	0	0	0	13914	127	5	0	3365	0	SCN1A	2	166894520	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	45873	166894520	76304853	434	84215											
SCN1A	6323	broad.mit.edu	37	chr2	166894547	166894547	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagacgatgatggccaagacGagggttaaatttcccagagc	12	8	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:166894547G>A	uc010zcz.1	-	15	2670	c.2652C>T	c.(2650-2652)CTC>CTT	p.L884L	SCN1A_uc002udo.3_Silent_p.L764L|SCN1A_uc010fpk.2_Silent_p.L736L	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	895	II.|Helical; Name=S5 of repeat II; (By similarity).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGGCCAAGACGAGGGTTAAAT	0.458													A	166894547	G	A	166894547	2	1	158	1	0	0	0	0	0	0	0	1	13914	1045	37	1		1	SCN1A	2	166894547	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	27	166894547	76304826	435	84216											
XIRP2	129446	broad.mit.edu	37	chr2	167760318	167760318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcggcgcaggattgaacGcttttccattgcccttgatg	11	11	0	2	rs111792328	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:167760318G>A	uc002udx.2	+	1	344	c.326G>A	c.(325-327)CGC>CAC	p.R109H	XIRP2_uc010fpn.2_Missense_Mutation_p.R109H|XIRP2_uc010fpo.2_Missense_Mutation_p.R109H|XIRP2_uc010fpp.2_Missense_Mutation_p.R109H	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	Error:Variant_position_missing_in_A4UGR9_after_alignment					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AGGATTGAACGCTTTTCCATT	0.502													A	167760318	G	A	167760318	3	1	158	1	0	0	0	0	1	0	0	0	17427	1087	38	1	328	1	XIRP2	2	167760318	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	865771	167760318	75439055	436	84217											
XIRP2	129446	broad.mit.edu	37	chr2	168103103	168103103	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaatatctgaaagggctaAaattgatgcctctgagagag	10	5	2	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:168103103A>C	uc002udx.2	+	8	5219	c.5201A>C	c.(5200-5202)AAA>ACA	p.K1734T	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K1559T|XIRP2_uc010fpq.2_Missense_Mutation_p.K1512T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1559					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GAAAGGGCTAAAATTGATGCC	0.373													C	168103103	A	C	168103103	3	2	158	1	0	0	0	0	1	0	0	0	17427	14	1	5	5231	5	XIRP2	2	168103103	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	342785	168103103	75096270	437	84218											
XIRP2	129446	broad.mit.edu	37	chr2	168110607	168110607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtttatccaatggagtgCctagtggcagacaagcagaa	11	8	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:168110607C>T	uc002udx.2	+	9	10639	c.10621C>T	c.(10621-10623)CCT>TCT	p.P3541S	XIRP2_uc010fpn.2_Silent_p.C447C|XIRP2_uc010fpo.2_Silent_p.C414C|XIRP2_uc010fpp.2_Silent_p.C414C|XIRP2_uc010fpq.2_Missense_Mutation_p.P3319S|XIRP2_uc010fpr.2_Silent_p.C192C	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	3366					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CAATGGAGTGCCTAGTGGCAG	0.363													T	168110607	C	T	168110607	3	4	158	1	0	0	0	0	1	0	0	0	17427	748	26	2	10655	2	XIRP2	2	168110607	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	7504	168110607	75088766	438	84219											
LRP2	4036	broad.mit.edu	37	chr2	170103435	170103435	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcgctggaaatttggcacCgggaagcagaagtggctgca	14	9	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:170103435C>T	uc002ues.2	-	21	3183	c.2970G>A	c.(2968-2970)CCG>CCA	p.P990P	LRP2_uc010zdf.1_Silent_p.P853P	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	990	EGF-like 4.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AATTTGGCACCGGGAAGCAGA	0.542													T	170103435	C	T	170103435	2	4	158	1	0	0	0	0	0	0	0	1	8956	639	23	1		1	LRP2	2	170103435	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1992828	170103435	73095938	439	84220											
LRP2	4036	broad.mit.edu	37	chr2	170112738	170112738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggcatctacccagtacaatCgtgaagcactaaaataataa	6	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:170112738C>T	uc002ues.2	-	19	2861	c.2648G>A	c.(2647-2649)CGA>CAA	p.R883Q	LRP2_uc010zdf.1_Missense_Mutation_p.R746Q	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	883	LDL-receptor class B 9.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCAGTACAATCGTGAAGCACT	0.383													T	170112738	C	T	170112738	3	4	158	1	0	0	0	0	1	0	0	0	8956	884	31	1	11563	1	LRP2	2	170112738	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	9303	170112738	73086635	440	84221											
SP5	389058	broad.mit.edu	37	chr2	171573716	171573716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcaactggctcttctgCgggaagagcttcacgcgctc	13	12	3	1	rs147780061	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:171573716C>T	uc002uge.2	+	2	1165	c.999C>T	c.(997-999)TGC>TGT	p.C333C		NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	333	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGCTCTTCTGCGGGAAGAGCT	0.672													T	171573716	C	T	171573716	2	4	158	1	0	0	0	0	0	0	0	1	14967	776	27	1		1	SP5	2	171573716	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1460978	171573716	71625657	441	84222											
TLK1	9874	broad.mit.edu	37	chr2	171853207	171853207	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttttacagggaactggacttCtgtggcttttaatattgtat	9	5	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:171853207C>A	uc002ugn.2	-	20	2552	c.2080G>T	c.(2080-2082)GAA>TAA	p.E694*	TLK1_uc002ugo.2_Nonsense_Mutation_p.E715*|TLK1_uc002ugp.2_Nonsense_Mutation_p.E646*|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Nonsense_Mutation_p.E598*	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1 isoform 1	694	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						AACTGGACTTCTGTGGCTTTT	0.318													A	171853207	C	A	171853207	4	1	158	1	0	0	0	0	0	1	0	0	15940	922	32	5	228	5	TLK1	2	171853207	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	279491	171853207	71346166	442	84223											
DLX1	1745	broad.mit.edu	37	chr2	172950494	172950494	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggccgcccaaccagcaaaTgtctccttctcccatgtccc	7	18	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:172950494T>C	uc002uhl.2	+	1	287	c.89T>C	c.(88-90)ATG>ACG	p.M30T	DLX1_uc010fqj.1_Missense_Mutation_p.M30T|DLX1_uc002uhm.2_Missense_Mutation_p.M30T	NM_178120	NP_835221	P56177	DLX1_HUMAN	distal-less homeobox 1 isoform 1	30						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AACCAGCAAATGTCTCCTTCT	0.602													C	172950494	T	C	172950494	3	2	158	1	0	0	0	0	1	0	0	0	4570	1464	51	3	91	3	DLX1	2	172950494	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1097287	172950494	70248879	443	84224											
ITGA6	3655	broad.mit.edu	37	chr2	173335732	173335733	+	Frame_Shift_Ins	INS	-	-	T													gtagagcaaaagaataacacINStttttttgacatgaacatct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:173335732_173335733insT	uc002uhp.1	+	5	877_878	c.674_675insT	c.(673-675)ACTfs	p.T225fs	ITGA6_uc010fqk.1_Frame_Shift_Ins_p.T111fs|ITGA6_uc010zdy.1_Intron|ITGA6_uc002uho.1_Frame_Shift_Ins_p.T225fs|ITGA6_uc010fql.2_RNA	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	225	Extracellular (Potential).|FG-GAP 3.				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AAGAATAACACTTTTTTTGACA	0.347													T	173335733	-	T	173335732	7	5	158	1	0	1	1	0	0	0	0	0	7880	565	20	0	692	0	ITGA6	2	173335732	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	385238	173335732	69863641	444	84225	421	2									
ITGA6	3655	broad.mit.edu	37	chr2	173335733	173335734	+	Frame_Shift_Ins	INS	-	-	T													tagagcaaaagaataacactINSttttttgacatgaacatctt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:173335732_173335733C>CT	uc002uhp.1	+	4	877_878	c.674_675C>CT	c.(673-675)actfs	p.T225fs	ITGA6_uc010fqk.1_Frame_Shift_Ins_p.T111fs|ITGA6_uc010zdy.1_Intron|ITGA6_uc002uho.1_Frame_Shift_Ins_p.T225fs|ITGA6_uc010fql.2_Non-coding_Transcript	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	225					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AAGAATAACACTTTTTTTGACA	0.347													T	173335734	-	T	173335733	7	5	158	1	0	1	1	0	0	0	0	0	7880	1596	56	0	693	0	ITGA6	2	173335733	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	1	173335733	69863640	445	84226	421	2									
ITGA6	3655	broad.mit.edu	37	chr2	173339813	173339813	+	Frame_Shift_Del	DEL	A	A	-													tctatgtttggcattgcagtAaaaaatattggagatattaa							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:173339813delA	uc002uhp.1	+	7	1346	c.1143delA	c.(1141-1143)GTAfs	p.V381fs	ITGA6_uc010fqk.1_Frame_Shift_Del_p.V267fs|ITGA6_uc010zdy.1_Frame_Shift_Del_p.V262fs|ITGA6_uc002uho.1_Frame_Shift_Del_p.V381fs|ITGA6_uc010fqm.1_Frame_Shift_Del_p.V27fs	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	420	FG-GAP 6.|Extracellular (Potential).				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GCATTGCAGTAAAAAATATTG	0.343													-	173339813	A	-	173339813	7	5	158	1	0	1	0	1	0	0	0	0	7880	349	13	0	1169	0	ITGA6	2	173339813	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	4080	173339813	69859560	446	84227											
ATF2	1386	broad.mit.edu	37	chr2	175986238	175986238	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catctcatgtttatgtttatGgacagccaaatgatcctcgt	7	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:175986238G>T	uc002ujl.2	-	5	395	c.133C>A	c.(133-135)CAT>AAT	p.H45N	ATF2_uc010fqv.2_Intron|ATF2_uc002ujv.2_5'UTR|ATF2_uc002ujm.2_Intron|ATF2_uc002ujn.2_Intron|ATF2_uc002ujo.2_Intron|ATF2_uc002ujp.2_RNA|ATF2_uc002ujq.2_Missense_Mutation_p.H45N|ATF2_uc002ujr.2_RNA|ATF2_uc010fqu.2_Missense_Mutation_p.H27N|ATF2_uc002ujs.2_Intron|ATF2_uc002ujt.2_RNA|ATF2_uc002uju.2_Intron|ATF2_uc002ujw.1_Intron|ATF2_uc002ujx.1_RNA|ATF2_uc002ujy.1_Missense_Mutation_p.H45N	NM_001880	NP_001871	P15336	ATF2_HUMAN	activating transcription factor 2	45	C2H2-type.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(1)|breast(1)|pancreas(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.125)			TTATGTTTATGGACAGCCAAA	0.318													T	175986238	G	T	175986238	3	4	158	1	0	0	0	0	1	0	0	0	1080	1348	47	5	1424	5	ATF2	2	175986238	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2646425	175986238	67213135	447	84228											
HOXD12	3238	broad.mit.edu	37	chr2	176965308	176965308	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcggaaaccctacacgaaGcagcagattgcggagttgga	13	9	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:176965308G>A	uc010zev.1	+	2	633	c.633G>A	c.(631-633)AAG>AAA	p.K211K	HOXD12_uc010zew.1_Missense_Mutation_p.A221T	NM_021193	NP_067016	P35452	HXD12_HUMAN	homeobox D12	211	Homeobox.					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCTACACGAAGCAGCAGATTG	0.597													A	176965308	G	A	176965308	2	1	158	1	0	0	0	0	0	0	0	1	7321	962	34	2		2	HOXD12	2	176965308	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	979070	176965308	66234065	448	84229											
HOXD9	3235	broad.mit.edu	37	chr2	176987685	176987685	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccgccaccgccgccgagttCgcctcgtgtagttttgcccc	11	18	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:176987685C>T	uc010zex.1	+	1	273	c.189C>T	c.(187-189)TTC>TTT	p.F63F		NM_014213	NP_055028	P28356	HXD9_HUMAN	homeobox D9	63						nucleus	sequence-specific DNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CCGCCGAGTTCGCCTCGTGTA	0.756													T	176987685	C	T	176987685	2	4	158	1	0	0	0	0	0	0	0	1	7326	883	31	1		1	HOXD9	2	176987685	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	22377	176987685	66211688	449	84230											
HOXD9	3235	broad.mit.edu	37	chr2	176988179	176988179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggggaaccgggcctggggCagggatcggggccgcgactg	23	10	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:176988179C>T	uc010zex.1	+	1	767	c.683C>T	c.(682-684)GCA>GTA	p.A228V		NM_014213	NP_055028	P28356	HXD9_HUMAN	homeobox D9	228						nucleus	sequence-specific DNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GGGCCTGGGGCAGGGATCGGG	0.716													T	176988179	C	T	176988179	3	4	158	1	0	0	0	0	1	0	0	0	7326	710	25	2	685	2	HOXD9	2	176988179	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	494	176988179	66211194	450	84231											
OSBPL6	114880	broad.mit.edu	37	chr2	179193016	179193017	+	Frame_Shift_Ins	INS	-	-	A													ggaaattatagaagggctgaINSaaataggccaaaccaatgtc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:179193015_179193016G>GA	uc002uly.3	+	4	772_773	c.228_229G>GA	c.(226-231)ctgaaafs	p.L76fs	OSBPL6_uc002ulw.3_Frame_Shift_Ins_p.L76fs|OSBPL6_uc002ulx.3_Frame_Shift_Ins_p.L76fs|OSBPL6_uc010zfe.2_Frame_Shift_Ins_p.L76fs|OSBPL6_uc002ulz.3_Frame_Shift_Ins_p.L76fs|OSBPL6_uc002uma.3_Frame_Shift_Ins_p.L55fs	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	76					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TAGAAGGGCTGAAAATAGGCCA	0.396													A	179193017	-	A	179193016	7	5	158	1	0	1	1	0	0	0	0	0	11281	247	9	0	282	0	OSBPL6	2	179193016	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	2204837	179193016	64006357	451	84232											
TTN	7273	broad.mit.edu	37	chr2	179398978	179398978	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactttagcaacactcactcCcttctgagatcgaattgcac	5	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:179398978C>A	uc010zfg.1	-	307	94884	c.94660G>T	c.(94660-94662)GGA>TGA	p.G31554*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.G25249*|TTN_uc010zfi.1_Nonsense_Mutation_p.G25182*|TTN_uc010zfj.1_Nonsense_Mutation_p.G25057*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32481							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACTCACTCCCTTCTGAGAT	0.468													A	179398978	C	A	179398978	4	1	158	1	0	0	0	0	0	1	0	0	16732	632	22	5	5635	5	TTN	2	179398978	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	205962	179398978	63800395	452	84233											
TTN	7273	broad.mit.edu	37	chr2	179404476	179404476	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttccagaaccaggtcataAgtgccagaatcacccctgtc	7	13	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:179404476A>C	uc010zfg.1	-	301	90836	c.90612T>G	c.(90610-90612)ACT>ACG	p.T30204T	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T23899T|TTN_uc010zfi.1_Silent_p.T23832T|TTN_uc010zfj.1_Silent_p.T23707T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31131							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGGTCATAAGTGCCAGAAT	0.473													C	179404476	A	C	179404476	2	2	158	1	0	0	0	0	0	0	0	1	16732	59	3	5		5	TTN	2	179404476	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	5498	179404476	63794897	453	84234											
TTN	7273	broad.mit.edu	37	chr2	179412829	179412829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcagttttctcaacaagaCgctctactgtgaaagttagc	7	9	3	2	rs72648251		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:179412829C>T	uc010zfg.1	-	288	86044	c.85820G>A	c.(85819-85821)CGT>CAT	p.R28607H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R22302H|TTN_uc010zfi.1_Missense_Mutation_p.R22235H|TTN_uc010zfj.1_Missense_Mutation_p.R22110H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29534							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCAACAAGACGCTCTACTGT	0.463													T	179412829	C	T	179412829	3	4	158	1	0	0	0	0	1	0	0	0	16732	536	19	1	14551	1	TTN	2	179412829	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	8353	179412829	63786544	454	84235											
TTN	7273	broad.mit.edu	37	chr2	179497513	179497513	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgtgatgaagataagaGgcaattctgaaagaagtgga	15	2	1	6			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:179497513G>T	uc010zfg.1	-	184	35740	c.35516C>A	c.(35515-35517)CCT>CAT	p.P11839H	TTN_uc010zfh.1_Missense_Mutation_p.P5534H|TTN_uc010zfi.1_Missense_Mutation_p.P5467H|TTN_uc010zfj.1_Missense_Mutation_p.P5342H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12766							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAGATAAGAGGCAATTCTGA	0.433													T	179497513	G	T	179497513	3	4	158	1	0	0	0	0	1	0	0	0	16732	1000	35	5	64985	5	TTN	2	179497513	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	84684	179497513	63701860	455	84236											
TTN	7273	broad.mit.edu	37	chr2	179596093	179596093	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatttttggcctgacagacAtatttcccatcatgcttgac	6	11	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:179596093A>G	uc010zfg.1	-	56	13892	c.13668T>C	c.(13666-13668)TAT>TAC	p.Y4556Y	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.Y1217Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5483							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGACAGACATATTTCCCAT	0.403													G	179596093	A	G	179596093	2	3	158	1	0	0	0	0	0	0	0	1	16732	224	8	3		3	TTN	2	179596093	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	98580	179596093	63603280	456	84237											
CERKL	375298	broad.mit.edu	37	chr2	182403983	182403983	+	Frame_Shift_Del	DEL	A	A	-													gtgtaagtctcaacaaatggAaaattgaactaaaaataaat							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:182403982_182403982GA>G	uc002unx.3	-	12	1554	c.1453_1453TC>C	c.(1453-1455)ccafs	p.P485fs	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Frame_Shift_Del_p.P459fs|CERKL_uc010zfm.2_Frame_Shift_Del_p.P441fs|CERKL_uc002unz.3_Frame_Shift_Del_p.P207fs|CERKL_uc002uoa.3_Frame_Shift_Del_p.P390fs|CERKL_uc002uob.3_Frame_Shift_Del_p.P207fs|CERKL_uc002uoc.3_Frame_Shift_Del_p.P346fs|CERKL_uc021vth.1_Frame_Shift_Del_p.P254fs|CERKL_uc021vti.1_Frame_Shift_Del_p.P207fs|CERKL_uc021vtj.1_Frame_Shift_Del_p.P162fs|CERKL_uc021vtk.1_Frame_Shift_Del_p.P207fs|CERKL_uc021vtl.1_Frame_Shift_Del_p.P162fs|CERKL_uc021vtm.1_Frame_Shift_Del_p.P254fs|CERKL_uc002uod.2_Frame_Shift_Del_p.P254fs|CERKL_uc002unw.3_Frame_Shift_Del_p.P55fs	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	485					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity	p.E484A(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TCAACAAATGGAAAATTGAAC	0.353													-	182403983	A	-	182403983	7	5	158	1	0	1	0	1	0	0	0	0	3268	243	9	0	232	0	CERKL	2	182403983	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	2807890	182403983	60795390	457	84238											
SSFA2	6744	broad.mit.edu	37	chr2	182784161	182784161	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgccttcacccttccgctcCtccgcactcatggtacgcta	6	18	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:182784161C>A	uc002uoi.2	+	14	3454	c.3132C>A	c.(3130-3132)TCC>TCA	p.S1044S	SSFA2_uc002uoh.2_Silent_p.S1044S|SSFA2_uc002uoj.2_Silent_p.S1044S|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Silent_p.S891S|SSFA2_uc002uol.2_Silent_p.S891S|SSFA2_uc002uom.2_Silent_p.S512S	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	1044						cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CCTTCCGCTCCTCCGCACTCA	0.532													A	182784161	C	A	182784161	2	1	158	1	0	0	0	0	0	0	0	1	15182	668	24	5		5	SSFA2	2	182784161	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	380178	182784161	60415212	458	84239											
FRZB	2487	broad.mit.edu	37	chr2	183730898	183730898	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggttctccggccacgagTggcggtacttgatgagtatg	14	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:183730898T>C	uc002upa.1	-	1	601	c.383A>G	c.(382-384)CAC>CGC	p.H128R		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	frizzled-related protein precursor	128	FZ.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CGGCCACGAGTGGCGGTACTT	0.627													C	183730898	T	C	183730898	3	2	158	1	0	0	0	0	1	0	0	0	6065	1696	59	3	618	3	FRZB	2	183730898	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	946737	183730898	59468475	459	84240											
COL5A2	1290	broad.mit.edu	37	chr2	189904121	189904121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacttcagggtagcatgaaCccctgggtccgttttgtttt	11	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:189904121C>T	uc002uqk.2	-	51	4077	c.3802G>A	c.(3802-3804)GTT>ATT	p.V1268I	COL5A2_uc010frx.2_Missense_Mutation_p.V844I	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1268	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GTAGCATGAACCCCTGGGTCC	0.512													T	189904121	C	T	189904121	3	4	158	1	0	0	0	0	1	0	0	0	3697	507	18	4	713	4	COL5A2	2	189904121	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	6173223	189904121	53295252	460	84241											
OSGEPL1	64172	broad.mit.edu	37	chr2	190618642	190618642	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaaatgagataaaacttacCagtactgcattattttgagg	7	5	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:190618642C>A	uc002uqz.1	-	5	1497	c.963G>T	c.(961-963)CTG>CTT	p.L321L	OSGEPL1_uc002ura.1_RNA	NM_022353	NP_071748	Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	321					proteolysis|tRNA processing		metalloendopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			TAAAACTTACCAGTACTGCAT	0.358													A	190618642	C	A	190618642	2	1	158	1	0	0	0	0	0	0	0	1	11288	608	21	5		5	OSGEPL1	2	190618642	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	714521	190618642	52580731	461	84242											
OSGEPL1	64172	broad.mit.edu	37	chr2	190620089	190620089	+	Frame_Shift_Del	DEL	T	T	-													gatgaatgggaatgaatggcTtttttaactgtcctaccagc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:190620089delT	uc002uqz.1	-	3	953	c.419delA	c.(418-420)AAGfs	p.K140fs	OSGEPL1_uc002ura.1_RNA|OSGEPL1_uc010zfy.1_Frame_Shift_Del_p.K140fs	NM_022353	NP_071748	Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	140					proteolysis|tRNA processing		metalloendopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			AATGAATGGCTTTTTTAACTG	0.393													-	190620089	T	-	190620089	7	5	158	1	0	1	0	1	0	0	0	0	11288	1609	56	0	849	0	OSGEPL1	2	190620089	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	1447	190620089	52579284	462	84243											
DNAH7	56171	broad.mit.edu	37	chr2	196834715	196834715	+	Frame_Shift_Del	DEL	T	T	-													ttccattcagtatttgagccTtttttaggtaccgctgaaca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:196834715delT	uc002utj.3	-	17	2263	c.2162delA	c.(2161-2163)AAGfs	p.K721fs		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	721	Stem (By similarity).|Potential.				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TATTTGAGCCTTTTTTAGGTA	0.338													-	196834715	T	-	196834715	7	5	158	1	0	1	0	1	0	0	0	0	4606	1609	56	0	10108	0	DNAH7	2	196834715	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	6214626	196834715	46364658	463	84244											
HECW2	57520	broad.mit.edu	37	chr2	197183867	197183867	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgatgcatcggaagtccCtgtgtctgcgccacttgtgg	12	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:197183867C>A	uc002utm.1	-	9	1930	c.1747G>T	c.(1747-1749)GGG>TGG	p.G583W	HECW2_uc002utl.1_Missense_Mutation_p.G227W	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	583					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						TCGGAAGTCCCTGTGTCTGCG	0.592													A	197183867	C	A	197183867	3	1	158	1	0	0	0	0	1	0	0	0	7043	681	24	5	3055	5	HECW2	2	197183867	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	349152	197183867	46015506	464	84245											
RFTN2	130132	broad.mit.edu	37	chr2	198436793	198436793	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgtccgtcgtctaattccCggaggacgttgtcactgctg	11	12	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:198436793C>A	uc002uuo.3	-	9	1847	c.1445G>T	c.(1444-1446)CGG>CTG	p.R482L		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	482						plasma membrane					0						GTCTAATTCCCGGAGGACGTT	0.532													A	198436793	C	A	198436793	3	1	158	1	0	0	0	0	1	0	0	0	13259	652	23	5	64	5	RFTN2	2	198436793	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1252926	198436793	44762580	465	84246											
ORC2L	4999	broad.mit.edu	37	chr2	201798648	201798648	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgttctatcagaggttAaaacttttgaactgctgtga	10	6	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:201798648A>G	uc002uwr.2	-	10	1015	c.758T>C	c.(757-759)TTA>TCA	p.L253S	ORC2L_uc010zhj.1_Missense_Mutation_p.L253S	NM_006190	NP_006181	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	253					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0						ATCAGAGGTTAAAACTTTTGA	0.353													G	201798648	A	G	201798648	3	3	158	1	0	0	0	0	1	0	0	0	11262	372	13	3	1011	3	ORC2L	2	201798648	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	3361855	201798648	41400725	466	84247											
CASP8	841	broad.mit.edu	37	chr2	202131283	202131283	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggcctccctcaagttccTgagcctggactacattccgc	8	16	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:202131283T>C	uc002uxr.1	+	3	283	c.74T>C	c.(73-75)CTG>CCG	p.L25P	CASP8_uc010ftc.1_Missense_Mutation_p.L25P|CASP8_uc002uxo.1_Missense_Mutation_p.L25P|CASP8_uc002uxp.1_Missense_Mutation_p.L25P|CASP8_uc002uxq.1_Missense_Mutation_p.L25P|CASP8_uc002uxs.1_Missense_Mutation_p.L25P|CASP8_uc002uxt.1_Missense_Mutation_p.L84P|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.L25P|CASP8_uc002uxw.1_Missense_Mutation_p.L25P|CASP8_uc002uxy.1_Missense_Mutation_p.L25P|CASP8_uc002uxx.1_Missense_Mutation_p.L25P|CASP8_uc010ftf.2_Missense_Mutation_p.L25P	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	25	DED 1.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						CTCAAGTTCCTGAGCCTGGAC	0.433										HNSCC(4;0.00038)			C	202131283	T	C	202131283	3	2	158	1	0	0	0	0	1	0	0	0	2677	1580	55	3	257	3	CASP8	2	202131283	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	332635	202131283	41068090	467	84248											
ALS2	57679	broad.mit.edu	37	chr2	202590095	202590095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacctgtagactccttgacCgcacatttttccttctttcc	4	14	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:202590095C>T	uc002uyo.2	-	20	3687	c.3331G>A	c.(3331-3333)GGT>AGT	p.G1111S	ALS2_uc002uyp.3_Missense_Mutation_p.G1111S|ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	1111	MORN 3.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7						ACTCCTTGACCGCACATTTTT	0.388													T	202590095	C	T	202590095	3	4	158	1	0	0	0	0	1	0	0	0	550	652	23	1	1702	1	ALS2	2	202590095	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	458812	202590095	40609278	468	84249											
ALS2	57679	broad.mit.edu	37	chr2	202591207	202591207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttacacaattttcttacCcatcttccaagccattcctg	3	13	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:202591207C>T	uc002uyo.2	-	19	3604	c.3248G>A	c.(3247-3249)GGG>GAG	p.G1083E	ALS2_uc002uyp.3_Missense_Mutation_p.G1083E|ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	1083	MORN 2.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7						ATTTTCTTACCCATCTTCCAA	0.373													T	202591207	C	T	202591207	3	4	158	1	0	0	0	0	1	0	0	0	550	637	22	4	1789	4	ALS2	2	202591207	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1112	202591207	40608166	469	84250											
BMPR2	659	broad.mit.edu	37	chr2	203378520	203378520	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtattagctgttttgatagTtgccttatgctttggataca	9	5	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:203378520T>C	uc002uzf.3	+	4	1645	c.497T>C	c.(496-498)GTT>GCT	p.V166A	BMPR2_uc010ftr.2_Missense_Mutation_p.V166A	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	166	Helical; (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						GTTTTGATAGTTGCCTTATGC	0.308													C	203378520	T	C	203378520	3	2	158	1	0	0	0	0	1	0	0	0	1471	1725	60	3	511	3	BMPR2	2	203378520	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	787313	203378520	39820853	470	84251											
ABI2	10152	broad.mit.edu	37	chr2	204259439	204259439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaggcggcactccccctatCgcacactggagccagtgcgt	12	15	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:204259439C>T	uc002vaa.2	+	6	830	c.595C>T	c.(595-597)CGC>TGC	p.R199C	ABI2_uc010zig.1_Intron|ABI2_uc002uzz.2_Missense_Mutation_p.R193C|ABI2_uc010zih.1_Intron|ABI2_uc010zii.1_Missense_Mutation_p.R193C|ABI2_uc010zij.1_Missense_Mutation_p.R137C|ABI2_uc002vab.2_Missense_Mutation_p.R148C|ABI2_uc010zik.1_Intron|ABI2_uc010zil.1_Missense_Mutation_p.R34C|ABI2_uc010zim.1_Intron|ABI2_uc002vac.2_Intron|ABI2_uc010zin.1_5'UTR	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	abl interactor 2	199	Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding				0						CTCCCCCTATCGCACACTGGA	0.498													T	204259439	C	T	204259439	3	4	158	1	0	0	0	0	1	0	0	0	89	884	31	1	595	1	ABI2	2	204259439	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	880919	204259439	38939934	471	84252											
GPR1	2825	broad.mit.edu	37	chr2	207041592	207041592	+	Frame_Shift_Del	DEL	A	A	-													ccaggctgatcactgtcaggAaaaaaacactggcaaacatg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:207041591_207041591GA>G	uc021vvl.1	-	0	381	c.381_381TC>C	c.(379-381)ttcfs	p.F127fs	GPR1_uc002vbl.4_Frame_Shift_Del_p.F127fs|GPR1_uc010fue.3_Frame_Shift_Del_p.F127fs|GPR1_uc010fuf.3_Frame_Shift_Del_p.F127fs	NM_005279	NP_005270	P46091	GPR1_HUMAN	Homo sapiens G protein-coupled receptor 1 (GPR1), transcript variant 1, mRNA.	127						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		TCACTGTCAGGAAAAAAACAC	0.458													-	207041592	A	-	207041592	7	5	158	1	0	1	0	1	0	0	0	0	6621	246	9	0	691	0	GPR1	2	207041592	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	2782153	207041592	36157781	472	84253											
C2orf67	151050	broad.mit.edu	37	chr2	211018420	211018420	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctgcagtcaatgtgttaActtctggcttaatttcagtg	8	8	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:211018420A>G	uc002vds.2	-	2	1095	c.887T>C	c.(886-888)GTT>GCT	p.V296A	C2orf67_uc002vdt.2_Missense_Mutation_p.V296A|C2orf67_uc002vdw.2_Missense_Mutation_p.V296A|C2orf67_uc002vdy.1_Missense_Mutation_p.V296A|C2orf67_uc002vdv.2_Missense_Mutation_p.V296A|C2orf67_uc002vdx.1_Missense_Mutation_p.V296A	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	296										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)		CAATGTGTTAACTTCTGGCTT	0.373													G	211018420	A	G	211018420	3	3	158	1	0	0	0	0	1	0	0	0	2186	43	2	3	2132	3	C2orf67	2	211018420	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	3976828	211018420	32180953	473	84254											
ERBB4	2066	broad.mit.edu	37	chr2	212812286	212812286	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtaaattctccagaggcAggtaacgaaactgattaaga	10	7	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:212812286A>G	uc002veg.1	-	3	388	c.290T>C	c.(289-291)CTG>CCG	p.L97P	ERBB4_uc002veh.1_Missense_Mutation_p.L97P|ERBB4_uc010zji.1_Missense_Mutation_p.L97P|ERBB4_uc010zjj.1_Missense_Mutation_p.L97P|ERBB4_uc010fut.1_Missense_Mutation_p.L97P	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	97	Extracellular (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTCCAGAGGCAGGTAACGAAA	0.388										TSP Lung(8;0.080)			G	212812286	A	G	212812286	3	3	158	1	0	0	0	0	1	0	0	0	5209	188	7	3	3740	3	ERBB4	2	212812286	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1793866	212812286	30387087	474	84255											
ERBB4	2066	broad.mit.edu	37	chr2	212989563	212989563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagttttcatagtacttgcGcaaggctcggtactgctgtt	10	9	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:212989563G>A	uc002veg.1	-	2	246	c.148C>T	c.(148-150)CGC>TGC	p.R50C	ERBB4_uc002veh.1_Missense_Mutation_p.R50C|ERBB4_uc010zji.1_Missense_Mutation_p.R50C|ERBB4_uc010zjj.1_Missense_Mutation_p.R50C|ERBB4_uc010fut.1_Missense_Mutation_p.R50C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	50	Extracellular (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TAGTACTTGCGCAAGGCTCGG	0.493										TSP Lung(8;0.080)			A	212989563	G	A	212989563	3	1	158	1	0	0	0	0	1	0	0	0	5209	1087	38	1	3886	1	ERBB4	2	212989563	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	177277	212989563	30209810	475	84256											
C2orf62	375307	broad.mit.edu	37	chr2	219221845	219221845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctaaggaccaccagccctCgggtccggagtgtctgccac	12	15	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:219221845C>T	uc002vhr.2	+	2	82	c.53C>T	c.(52-54)TCG>TTG	p.S18L	C2orf62_uc002vhs.2_5'Flank	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	hypothetical protein LOC375307	18											0		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCAGCCCTCGGGTCCGGAG	0.637													T	219221845	C	T	219221845	3	4	158	1	0	0	0	0	1	0	0	0	2181	893	31	1	59	1	C2orf62	2	219221845	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	6232282	219221845	23977528	476	84257											
TTLL4	9654	broad.mit.edu	37	chr2	219602834	219602834	+	Frame_Shift_Del	DEL	T	T	-													agcccgtcagaaaaaagcccTttttctctccctcaaaagag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:219602833_219602833CT>C	uc002viy.3	+	2	804	c.434_434CT>C	c.(433-435)cctfs	p.P145fs	TTLL4_uc010zkl.1_5'UTR|TTLL4_uc010fvx.3_Frame_Shift_Del_p.P145fs	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	145					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GAAAAAAGCCCTTTTTCTCTC	0.542													-	219602834	T	-	219602834	7	5	158	1	0	1	0	1	0	0	0	0	16726	1596	56	0	437	0	TTLL4	2	219602834	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	380989	219602834	23596539	477	84258											
CYP27A1	1593	broad.mit.edu	37	chr2	219674352	219674352	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcctacttagggcctcAgatgcacgtgaacctggcca	11	12	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:219674352A>T	uc002viz.3	+	2	742	c.308A>T	c.(307-309)CAG>CTG	p.Q103L		NM_000784	NP_000775	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A,	103					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	TTAGGGCCTCAGATGCACGTG	0.547													T	219674352	A	T	219674352	3	4	158	1	0	0	0	0	1	0	0	0	4158	188	7	5	314	5	CYP27A1	2	219674352	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	71518	219674352	23525021	478	84259											
NHEJ1	79840	broad.mit.edu	37	chr2	219941984	219941984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaccgtggactctttctcaGgtgctgagagggttggggct	15	9	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:219941984G>T	uc002vjp.3	-	7	955	c.809C>A	c.(808-810)CCT>CAT	p.P270H	NHEJ1_uc002vjq.3_RNA	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	270					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			lung(1)	1		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		CTCTTTCTCAGGTGCTGAGAG	0.532								Direct_reversal_of_damage|NHEJ					T	219941984	G	T	219941984	3	4	158	1	0	0	0	0	1	0	0	0	10402	1000	35	5	98	5	NHEJ1	2	219941984	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	267632	219941984	23257389	479	84260											
C2orf24	27013	broad.mit.edu	37	chr2	220037570	220037570	+	Frame_Shift_Del	DEL	G	G	-													tgggaggggcaggggggtctGggggaggcaatggtggagga					rs144214406		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:220037570delG	uc002vju.3	-	8	1123	c.971delC	c.(970-972)CCAfs	p.P324fs	NHEJ1_uc002vjq.3_5'Flank|SLC23A3_uc010zkr.1_5'Flank|SLC23A3_uc010zks.1_5'Flank|SLC23A3_uc010fwb.2_5'Flank|C2orf24_uc002vjv.2_Frame_Shift_Del_p.P324fs	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN	hypothetical protein LOC27013	324	Pro-rich.				regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding				0		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGGGGTCTGGGGGAGGCAA	0.617													-	220037570	G	-	220037570	7	5	158	1	0	1	0	1	0	0	0	0	2159	1348	47	0	265	0	C2orf24	2	220037570	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	95586	220037570	23161803	480	84261											
ANKZF1	55139	broad.mit.edu	37	chr2	220097230	220097230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggagatctttccagcatctCgggatcagaagactcagact	10	10	4	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:220097230C>T	uc002vkg.2	+	5	557	c.383C>T	c.(382-384)TCG>TTG	p.S128L	ATG9A_uc002vke.1_5'Flank|ATG9A_uc002vkf.1_5'Flank|ANKZF1_uc010zkv.1_Missense_Mutation_p.S72L|ANKZF1_uc010zkw.1_5'UTR|ANKZF1_uc002vkh.2_5'UTR|ANKZF1_uc002vki.2_Missense_Mutation_p.S128L|ANKZF1_uc002vkj.1_Missense_Mutation_p.S116L	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing	128						intracellular	zinc ion binding			ovary(2)	2		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCAGCATCTCGGGATCAGAA	0.463													T	220097230	C	T	220097230	3	4	158	1	0	0	0	0	1	0	0	0	693	893	31	1	397	1	ANKZF1	2	220097230	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	59660	220097230	23102143	481	84262											
ANKZF1	55139	broad.mit.edu	37	chr2	220099718	220099718	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggggcacatcggactcttCtccagcaaactcaagaagag	10	12	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:220099718C>T	uc002vkg.2	+	10	1549	c.1375C>T	c.(1375-1377)CTC>TTC	p.L459F	ANKZF1_uc010zkv.1_3'UTR|ANKZF1_uc010zkw.1_3'UTR|ANKZF1_uc002vkh.2_Missense_Mutation_p.L249F|ANKZF1_uc002vki.2_Missense_Mutation_p.L459F|ANKZF1_uc002vkj.1_3'UTR	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing	459						intracellular	zinc ion binding			ovary(2)	2		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGGACTCTTCTCCAGCAAAC	0.557													T	220099718	C	T	220099718	3	4	158	1	0	0	0	0	1	0	0	0	693	913	32	4	1409	4	ANKZF1	2	220099718	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2488	220099718	23099655	482	84263											
DNPEP	23549	broad.mit.edu	37	chr2	220251035	220251035	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgacgcgtccagccagagtCaggtcacggtcaaaccaggt	12	12	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:220251035C>T	uc010zlg.1	-	5	538	c.456G>A	c.(454-456)CTG>CTA	p.L152L	DNPEP_uc010zlf.1_5'Flank|DNPEP_uc002vle.2_Silent_p.L144L|DNPEP_uc002vlf.1_Silent_p.L130L|DNPEP_uc002vlh.2_Silent_p.L91L|DNPEP_uc002vli.1_Silent_p.L91L|DNPEP_uc002vlj.2_Silent_p.L134L|uc002vlk.1_5'Flank	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	134					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CAGCCAGAGTCAGGTCACGGT	0.617													T	220251035	C	T	220251035	2	4	158	1	0	0	0	0	0	0	0	1	4679	813	29	4		4	DNPEP	2	220251035	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	151317	220251035	22948338	483	84264											
DNPEP	23549	broad.mit.edu	37	chr2	220251118	220251118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagcccacctggctgcggcGagaccgacgtttcacctgag	13	14	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:220251118G>A	uc010zlg.1	-	5	455	c.373C>T	c.(373-375)CGC>TGC	p.R125C	DNPEP_uc010zlf.1_5'Flank|DNPEP_uc002vle.2_Missense_Mutation_p.R117C|DNPEP_uc002vlf.1_Missense_Mutation_p.R103C|DNPEP_uc002vlh.2_Missense_Mutation_p.R64C|DNPEP_uc002vli.1_Missense_Mutation_p.R64C|DNPEP_uc002vlj.2_Missense_Mutation_p.R107C|uc002vlk.1_5'Flank	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	107					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	TGGCTGCGGCGAGACCGACGT	0.542													A	220251118	G	A	220251118	3	1	158	1	0	0	0	0	1	0	0	0	4679	1058	37	1	1152	1	DNPEP	2	220251118	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	83	220251118	22948255	484	84265											
SPEG	10290	broad.mit.edu	37	chr2	220313050	220313050	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcggcgttgggccgatcGcctaggctggtgcgcgccgg	18	13	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:220313050G>A	uc010fwg.2	+	4	1170	c.1170G>A	c.(1168-1170)TCG>TCA	p.S390S	SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'Flank	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	390					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGGGCCGATCGCCTAGGCTGG	0.736													A	220313050	G	A	220313050	2	1	158	1	0	0	0	0	0	0	0	1	15035	1074	38	1		1	SPEG	2	220313050	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	61932	220313050	22886323	485	84266											
GMPPA	29926	broad.mit.edu	37	chr2	220368861	220368861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgacatcatcaactgcggCatctacctcttttctcctga	6	13	5	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:220368861C>T	uc002vlr.2	+	7	614	c.546C>T	c.(544-546)GGC>GGT	p.G182G	GMPPA_uc002vls.2_Silent_p.G182G|GMPPA_uc002vlt.2_Silent_p.G182G|GMPPA_uc002vlu.2_Silent_p.G182G|GMPPA_uc002vlv.2_Silent_p.G182G|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Silent_p.G182G	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	182					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TCAACTGCGGCATCTACCTCT	0.488													T	220368861	C	T	220368861	2	4	158	1	0	0	0	0	0	0	0	1	6494	697	25	2		2	GMPPA	2	220368861	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	55811	220368861	22830512	486	84267											
OBSL1	23363	broad.mit.edu	37	chr2	220435508	220435508	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggggaggccccccgcccgGcacgtcagcaccacctccgc	12	21	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:220435508G>A	uc010fwk.2	-	1	504	c.447C>T	c.(445-447)TGC>TGT	p.C149C	OBSL1_uc002vmi.2_Silent_p.C149C|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	149	Ig-like 2.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCCCCGCCCGGCACGTCAGCA	0.746													A	220435508	G	A	220435508	2	1	158	1	0	0	0	0	0	0	0	1	10813	1195	42	2		2	OBSL1	2	220435508	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	66647	220435508	22763865	487	84268											
EPHA4	2043	broad.mit.edu	37	chr2	222428510	222428510	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataggcagttgccaatgggtAccagccattcaccatctgcc	9	13	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:222428510A>G	uc002vmq.2	-	3	806	c.764T>C	c.(763-765)GTA>GCA	p.V255A	EPHA4_uc002vmr.2_Missense_Mutation_p.V255A|EPHA4_uc010zlm.1_Missense_Mutation_p.V196A|EPHA4_uc010zln.1_Missense_Mutation_p.V255A	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	255	Cys-rich.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GCCAATGGGTACCAGCCATTC	0.512													G	222428510	A	G	222428510	3	3	158	1	0	0	0	0	1	0	0	0	5169	391	14	3	2256	3	EPHA4	2	222428510	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1993002	222428510	20770863	488	84269											
RHBDD1	84236	broad.mit.edu	37	chr2	227729646	227729646	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaccatgctgatgattgGcatttgtatttcaatatggc	8	8	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:227729646G>A	uc002voi.2	+	2	358	c.237G>A	c.(235-237)TGG>TGA	p.W79*	RHBDD1_uc010fxc.2_Nonsense_Mutation_p.W79*	NM_032276	NP_115652	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	79						integral to membrane	serine-type endopeptidase activity			ovary(1)	1		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		CTGATGATTGGCATTTGTATT	0.438													A	227729646	G	A	227729646	4	1	158	1	0	0	0	0	0	1	0	0	13316	1212	42	2	239	2	RHBDD1	2	227729646	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	5301136	227729646	15469727	489	84270											
COL4A4	1286	broad.mit.edu	37	chr2	227919310	227919310	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catggctgtattttatttacCtttggcccctctcagtcccc	6	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:227919310C>A	uc010zlt.1	-	31	3514	c.2860G>T	c.(2860-2862)GGA>TGA	p.G954*		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	954	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTTTATTTACCTTTGGCCCCT	0.473													A	227919310	C	A	227919310	4	1	158	1	0	0	0	0	0	1	0	0	3693	695	24	5	2284	5	COL4A4	2	227919310	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	189664	227919310	15280063	490	84271											
COL4A3	1285	broad.mit.edu	37	chr2	228154792	228154792	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccaggaagcatggggaacAtgggcatgccaggtaatgca	14	8	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:228154792A>G	uc002vom.1	+	36	3220	c.3058A>G	c.(3058-3060)ATG>GTG	p.M1020V	COL4A3_uc002von.1_Missense_Mutation_p.M1020V|COL4A3_uc002voo.1_Missense_Mutation_p.M1020V|COL4A3_uc002vop.1_Missense_Mutation_p.M1020V|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1020	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CATGGGGAACATGGGCATGCC	0.488													G	228154792	A	G	228154792	3	3	158	1	0	0	0	0	1	0	0	0	3691	217	8	3	3200	3	COL4A3	2	228154792	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	235482	228154792	15044581	491	84272											
MFF	56947	broad.mit.edu	37	chr2	228207513	228207513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatttcaaggttccaggcaCcgatttctgcaccggagtac	9	11	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:228207513C>T	uc002vos.2	+	7	989	c.571C>T	c.(571-573)CCG>TCG	p.P191S	MFF_uc002vot.2_Intron|MFF_uc002vou.2_Intron|MFF_uc002vov.2_Intron|MFF_uc002vow.2_Missense_Mutation_p.P165S|MFF_uc002vox.2_Intron|MFF_uc002voy.2_Missense_Mutation_p.P191S|MFF_uc002voz.2_Intron	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	191	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane				large_intestine(1)	1						GTTCCAGGCACCGATTTCTGC	0.343													T	228207513	C	T	228207513	3	4	158	1	0	0	0	0	1	0	0	0	9519	507	18	4	589	4	MFF	2	228207513	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	52721	228207513	14991860	492	84273											
SPHKAP	80309	broad.mit.edu	37	chr2	228884188	228884188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgcctggctgtggggcaGcatcactgccatctggactc	13	12	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:228884188G>A	uc002vpq.2	-	7	1429	c.1382C>T	c.(1381-1383)GCT>GTT	p.A461V	SPHKAP_uc002vpp.2_Missense_Mutation_p.A461V|SPHKAP_uc010zlx.1_Missense_Mutation_p.A461V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	461						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGTGGGGCAGCATCACTGCC	0.522													A	228884188	G	A	228884188	3	1	158	1	0	0	0	0	1	0	0	0	15047	971	34	2	3744	2	SPHKAP	2	228884188	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	676675	228884188	14315185	493	84274											
SP100	6672	broad.mit.edu	37	chr2	231327216	231327216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttagaagtcttcatctcagCaccgagaagtgagcctggta	10	10	3	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:231327216C>T	uc002vqt.2	+	10	1181	c.1040C>T	c.(1039-1041)GCA>GTA	p.A347V	SP100_uc002vqs.2_Missense_Mutation_p.A347V|SP100_uc002vqu.1_Missense_Mutation_p.A347V|SP100_uc010zmb.1_Missense_Mutation_p.A347V|SP100_uc002vqq.1_Missense_Mutation_p.A347V|SP100_uc002vqr.1_Missense_Mutation_p.A322V|SP100_uc010zmc.1_Missense_Mutation_p.A322V|SP100_uc002vqv.1_Missense_Mutation_p.A311V	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	347					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTCATCTCAGCACCGAGAAGT	0.468													T	231327216	C	T	231327216	3	4	158	1	0	0	0	0	1	0	0	0	14960	710	25	2	1078	2	SP100	2	231327216	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2443028	231327216	11872157	494	84275											
C2orf57	165100	broad.mit.edu	37	chr2	232458288	232458288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacaccctgaagctgaagCtttaccatctgatgagtccc	7	15	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:232458288C>T	uc002vrz.2	+	1	677	c.626C>T	c.(625-627)GCT>GTT	p.A209V		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	hypothetical protein LOC165100	209										ovary(1)	1		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GAAGCTGAAGCTTTACCATCT	0.582													T	232458288	C	T	232458288	3	4	158	1	0	0	0	0	1	0	0	0	2178	797	28	2	628	2	C2orf57	2	232458288	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1131072	232458288	10741085	495	84276											
PDE6D	5147	broad.mit.edu	37	chr2	232597730	232597730	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaaaaactttgtttctaTgataacgttcccactgtaag	6	8	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:232597730T>C	uc002vse.1	-	5	535	c.385A>G	c.(385-387)ATA>GTA	p.I129V		NM_002601	NP_002592	O43924	PDE6D_HUMAN	phosphodiesterase 6D	129					regulation of GTP catabolic process|response to stimulus|visual perception		3',5'-cyclic-nucleotide phosphodiesterase activity|GTPase inhibitor activity|protein binding				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142)		Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154)		TTTGTTTCTATGATAACGTTC	0.378													C	232597730	T	C	232597730	3	2	158	1	0	0	0	0	1	0	0	0	11648	1464	51	3	71	3	PDE6D	2	232597730	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	139442	232597730	10601643	496	84277											
ECEL1	9427	broad.mit.edu	37	chr2	233350773	233350774	+	Frame_Shift_Ins	INS	-	-	C													cctctagcatgggtcgcgggINScccagtcgctcgatctcgcg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:233350773_233350774insC	uc002vsv.2	-	2	795_796	c.590_591insG	c.(589-591)GGCfs	p.G197fs	ECEL1_uc010fya.1_Frame_Shift_Ins_p.G197fs|ECEL1_uc010fyb.1_5'UTR	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	197	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGGGTCGCGGGCCCAGTCGCTC	0.594													C	233350774	-	C	233350773	7	5	158	1	0	1	1	0	0	0	0	0	4891	1190	42	0	1804	0	ECEL1	2	233350773	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	753043	233350773	9848600	497	84278	422	2									
ECEL1	9427	broad.mit.edu	37	chr2	233350774	233350775	+	Frame_Shift_Ins	INS	-	-	C													ctctagcatgggtcgcgggcINSccagtcgctcgatctcgcgc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:233350773_233350774G>GC	uc002vsv.2	-	1	795_796	c.590_591C>GC	c.(589-591)ggcfs	p.G197fs	ECEL1_uc010fya.1_Frame_Shift_Ins_p.G197fs|ECEL1_uc010fyb.1_5'UTR	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	197					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGGGTCGCGGGCCCAGTCGCTC	0.757													C	233350775	-	C	233350774	7	5	158	1	0	1	1	0	0	0	0	0	4891	739	26	0	1805	0	ECEL1	2	233350774	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	1	233350774	9848599	498	84279	422	2									
GIGYF2	26058	broad.mit.edu	37	chr2	233681683	233681683	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaggaggaaattcttcggCgacagcaggaagaagaaagg	14	6	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:233681683C>T	uc002vti.3	+	22	2648	c.2311C>T	c.(2311-2313)CGA>TGA	p.R771*	GIGYF2_uc010zmj.1_Nonsense_Mutation_p.R771*|GIGYF2_uc002vtg.2_Nonsense_Mutation_p.R765*|GIGYF2_uc002vtj.3_Nonsense_Mutation_p.R792*|GIGYF2_uc002vtk.3_Nonsense_Mutation_p.R771*|GIGYF2_uc002vth.3_Nonsense_Mutation_p.R765*|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Nonsense_Mutation_p.R602*|GIGYF2_uc002vtq.3_Nonsense_Mutation_p.R104*	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	771	Gln-rich.|Glu-rich.				cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AATTCTTCGGCGACAGCAGGA	0.483													T	233681683	C	T	233681683	4	4	158	1	0	0	0	0	0	1	0	0	6378	760	27	1	2451	1	GIGYF2	2	233681683	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	330909	233681683	9517690	499	84280											
NEU2	4759	broad.mit.edu	37	chr2	233897495	233897495	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtccctgctggccttcgcGgaacagcgggcaagcaagaa	13	13	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:233897495G>A	uc010zmn.1	+	1	114	c.114G>A	c.(112-114)GCG>GCA	p.A38A		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	neuraminidase 2	38							exo-alpha-sialidase activity				0		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		TGGCCTTCGCGGAACAGCGGG	0.627													A	233897495	G	A	233897495	2	1	158	1	0	0	0	0	0	0	0	1	10342	1103	39	1		1	NEU2	2	233897495	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	215812	233897495	9301878	500	84281											
NEU2	4759	broad.mit.edu	37	chr2	233899254	233899254	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcacgtgggcgcgagggcaCtttgtggcccaggacaccct	15	14	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:233899254C>A	uc010zmn.1	+	2	630	c.630C>A	c.(628-630)CAC>CAA	p.H210Q		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	neuraminidase 2	210							exo-alpha-sialidase activity				0		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CGCGAGGGCACTTTGTGGCCC	0.657													A	233899254	C	A	233899254	3	1	158	1	0	0	0	0	1	0	0	0	10342	564	20	5	636	5	NEU2	2	233899254	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1759	233899254	9300119	501	84282											
NEU2	4759	broad.mit.edu	37	chr2	233899485	233899485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccccgctcggggcctggCtccccagcccagtggctgct	13	19	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:233899485C>T	uc010zmn.1	+	2	861	c.861C>T	c.(859-861)GGC>GGT	p.G287G		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	neuraminidase 2	287							exo-alpha-sialidase activity				0		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CGGGGCCTGGCTCCCCAGCCC	0.687													T	233899485	C	T	233899485	2	4	158	1	0	0	0	0	0	0	0	1	10342	784	28	2		2	NEU2	2	233899485	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	231	233899485	9299888	502	84283											
USP40	55230	broad.mit.edu	37	chr2	234405468	234405468	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatatcagaagttctttcAgtgttgcatcctgggaagac	9	8	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:234405468A>G	uc010zmr.1	-	23	2759	c.2759T>C	c.(2758-2760)CTG>CCG	p.L920P	USP40_uc010zms.1_Missense_Mutation_p.L18P|USP40_uc002vun.2_Missense_Mutation_p.L84P|USP40_uc002vuo.1_Missense_Mutation_p.L84P	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	ubiquitin thioesterase 40	908					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)|breast(1)	3		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAGTTCTTTCAGTGTTGCATC	0.353													G	234405468	A	G	234405468	3	3	158	1	0	0	0	0	1	0	0	0	17069	188	7	3	1020	3	USP40	2	234405468	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	505983	234405468	8793905	503	84284											
UGT1A5	54579	broad.mit.edu	37	chr2	234621913	234621913	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggacgaatttgatcgcctTttgctgggtcacactcaatc	9	11	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:234621913T>C	uc002vuw.2	+	1	276	c.276T>C	c.(274-276)CTT>CTC	p.L92L	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Silent_p.L92L	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	92					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TTGATCGCCTTTTGCTGGGTC	0.393													C	234621913	T	C	234621913	2	2	158	1	0	0	0	0	0	0	0	1	16945	1828	64	3		3	UGT1A5	2	234621913	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	216445	234621913	8577460	504	84285											
UGT1A3	54659	broad.mit.edu	37	chr2	234638243	234638243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaccccgttaacctctgCgcggcagtgctggctaagta	11	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:234638243C>T	uc002vuy.2	+	1	471	c.471C>T	c.(469-471)TGC>TGT	p.C157C	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Silent_p.C157C	NM_019093	NP_061966	P35503	UD13_HUMAN	UDP glycosyltransferase 1 family, polypeptide A3	157					flavonoid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding			ovary(1)	1		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTAACCTCTGCGCGGCAGTGC	0.458													T	234638243	C	T	234638243	2	4	158	1	0	0	0	0	0	0	0	1	16943	776	27	1		1	UGT1A3	2	234638243	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	16330	234638243	8561130	505	84286											
HJURP	55355	broad.mit.edu	37	chr2	234750828	234750828	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctgggtcaccaggactctTtctggagatacgactgcagt	12	11	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:234750828T>C	uc002vvg.2	-	8	664	c.598A>G	c.(598-600)AAG>GAG	p.K200E	HJURP_uc010znd.1_Missense_Mutation_p.K139E|HJURP_uc010zne.1_Missense_Mutation_p.K108E	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	200					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CCAGGACTCTTTCTGGAGATA	0.453													C	234750828	T	C	234750828	3	2	158	1	0	0	0	0	1	0	0	0	7189	1850	64	3	1656	3	HJURP	2	234750828	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	112585	234750828	8448545	506	84287											
TRPM8	79054	broad.mit.edu	37	chr2	234879010	234879011	+	Frame_Shift_Ins	INS	-	-	C													atttccattcggtgccacacINSccccccgagctggtcctgta							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:234879009_234879010A>AC	uc002vvh.3	+	16	2334_2335	c.2294_2295A>AC	c.(2293-2295)cacfs	p.H765fs	TRPM8_uc010fyj.3_Intron	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	765						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCGGTGCCACACCCCCCCGAGC	0.574													C	234879011	-	C	234879010	7	5	158	1	0	1	1	0	0	0	0	0	16589	506	18	0	2357	0	TRPM8	2	234879010	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	128182	234879010	8320363	507	84288											
GBX2	2637	broad.mit.edu	37	chr2	237075079	237075079	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttgccctcggacagccccGactgaaagcaaaaccaaacg	8	16	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:237075079G>A	uc002vvw.1	-	2	563	c.525C>T	c.(523-525)GTC>GTT	p.V175V	GBX2_uc010zng.1_Missense_Mutation_p.R178W	NM_001485	NP_001476	P52951	GBX2_HUMAN	gastrulation brain homeo box 2	175				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GGACAGCCCCGACTGAAAGCA	0.567													A	237075079	G	A	237075079	2	1	158	1	0	0	0	0	0	0	0	1	6281	1072	37	1		1	GBX2	2	237075079	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2196069	237075079	6124294	508	84289											
PER2	8864	broad.mit.edu	37	chr2	239164366	239164366	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgggactggaaaatgctgAgttttcttatttctttgaac	10	5	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:239164366A>G	uc002vyc.2	-	18	2489	c.2252T>C	c.(2251-2253)CTC>CCC	p.L751P	PER2_uc010znv.1_Missense_Mutation_p.L751P	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	751	CSNK1E binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GAAAATGCTGAGTTTTCTTAT	0.473													G	239164366	A	G	239164366	3	3	158	1	0	0	0	0	1	0	0	0	11730	304	11	3	1539	3	PER2	2	239164366	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	2089287	239164366	4035007	509	84290											
HDAC4	9759	broad.mit.edu	37	chr2	239976531	239976531	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgggagaggatcaagcTggaagaaaatgcataagaat	12	4	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:239976531T>C	uc002vyk.3	-	25	3781	c.2989_splice	c.e25-1	p.L997_splice	HDAC4_uc010fyy.2_Splice_Site_p.L954_splice	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4						B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AGGATCAAGCTGGAAGAAAAT	0.468													C	239976531	T	C	239976531	5	2	158	1	0	0	0	0	0	0	1	0	7009	1594	55	3	279	3	HDAC4	2	239976531	Splice_Site	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	812165	239976531	3222842	510	84291											
GPR35	2859	broad.mit.edu	37	chr2	241569724	241569724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaccgctatgtggccgtgCggcacccgctgcgtgcccgc	15	16	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:241569724C>T	uc002vzs.1	+	1	930	c.355C>T	c.(355-357)CGG>TGG	p.R119W	GPR35_uc010fzh.1_Missense_Mutation_p.R150W|GPR35_uc010fzi.1_Missense_Mutation_p.R150W	NM_005301	NP_005292	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	119	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(2)|pancreas(1)	3		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TGTGGCCGTGCGGCACCCGCT	0.706													T	241569724	C	T	241569724	3	4	158	1	0	0	0	0	1	0	0	0	6690	759	27	1	357	1	GPR35	2	241569724	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1593193	241569724	1629649	511	84292											
KIF1A	547	broad.mit.edu	37	chr2	241726716	241726716	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcgtgtcgttgatccgagaGaagaggtcctcgcagagctg	15	9	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:241726716G>A	uc002vzy.2	-	5	527	c.381C>T	c.(379-381)TTC>TTT	p.F127F	KIF1A_uc010fzk.2_Silent_p.F127F|KIF1A_uc002vzz.1_Silent_p.F127F	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	127	Kinesin-motor.				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)		TGATCCGAGAGAAGAGGTCCT	0.652													A	241726716	G	A	241726716	2	1	158	1	0	0	0	0	0	0	0	1	8283	933	33	4		4	KIF1A	2	241726716	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	156992	241726716	1472657	512	84293											
HDLBP	3069	broad.mit.edu	37	chr2	242194559	242194559	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcggcgacagaggagacGgtgaagctattggcctaaga	18	7	0	4	rs150350953		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:242194559G>A	uc002waz.2	-	9	1323	c.1095C>T	c.(1093-1095)ACC>ACT	p.T365T	HDLBP_uc002wba.2_Silent_p.T365T|HDLBP_uc002wbb.2_Silent_p.T317T|HDLBP_uc010fzn.1_Silent_p.T94T	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	365	KH 3.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CAGAGGAGACGGTGAAGCTAT	0.542													A	242194559	G	A	242194559	2	1	158	1	0	0	0	0	0	0	0	1	7025	1103	39	1		1	HDLBP	2	242194559	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	467843	242194559	1004814	513	84294											
BHLHE40	8553	broad.mit.edu	37	chr3	5023160	5023160	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaacctaattgatcagcaGcagcagaaaatcattgccct	6	11	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:5023160G>A	uc003bqf.2	+	4	649	c.342G>A	c.(340-342)CAG>CAA	p.Q114Q	uc003bqe.1_5'Flank|uc010hce.1_5'Flank|BHLHE40_uc011asw.1_5'UTR	NM_003670	NP_003661	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	114						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TTGATCAGCAGCAGCAGAAAA	0.448													A	5023160	G	A	5023160	2	1	158	1	0	0	0	0	0	0	0	1	1423	962	34	2		2	BHLHE40	3	5023160	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08		5023160	192999270	514	84295											
SRGAP3	9901	broad.mit.edu	37	chr3	9057341	9057341	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgggttttccagtcctcGgaaatacagttttaaaacac	9	8	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:9057341G>A	uc003brf.1	-	15	2429	c.1753C>T	c.(1753-1755)CGA>TGA	p.R585*	SRGAP3_uc003brg.1_Nonsense_Mutation_p.R561*|SRGAP3_uc003bri.1_RNA	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	585	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCCAGTCCTCGGAAATACAGT	0.388			T	RAF1	pilocytic astrocytoma								A	9057341	G	A	9057341	4	1	158	1	0	0	0	0	0	1	0	0	15146	1124	39	1	1578	1	SRGAP3	3	9057341	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4034181	9057341	188965089	515	84296											
CPNE9	151835	broad.mit.edu	37	chr3	9747737	9747737	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagggcagccgagtagagCgaaccctcacgtaagctgaa	13	12	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:9747737C>T	uc003bsd.2	+	6	538	c.367C>T	c.(367-369)CGA>TGA	p.R123*		NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	copine-like protein	123										ovary(2)	2	Medulloblastoma(99;0.227)					CCGAGTAGAGCGAACCCTCAC	0.582													T	9747737	C	T	9747737	4	4	158	1	0	0	0	0	0	1	0	0	3819	760	27	1	389	1	CPNE9	3	9747737	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	690396	9747737	188274693	516	84297											
IL17RC	84818	broad.mit.edu	37	chr3	9970062	9970062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagagctggctgctggaCgcaccgtgctcgctgcccgc	14	16	0	1	rs151110374	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:9970062C>T	uc003bua.2	+	11	1400	c.1164C>T	c.(1162-1164)GAC>GAT	p.D388D	CIDEC_uc003bto.2_Intron|IL17RC_uc011ato.1_RNA|IL17RC_uc010hcs.2_Silent_p.D292D|IL17RC_uc003btz.2_Silent_p.D317D|IL17RC_uc011atp.1_Silent_p.D173D|IL17RC_uc003bud.2_Translation_Start_Site|IL17RC_uc003bub.2_Silent_p.D302D|IL17RC_uc010hct.2_Silent_p.D317D|IL17RC_uc010hcu.2_Silent_p.D317D|IL17RC_uc010hcv.2_Silent_p.D302D|IL17RC_uc011atq.1_Silent_p.D302D|IL17RC_uc003buc.2_Translation_Start_Site|IL17RC_uc003bue.2_5'Flank	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C isoform 1 precursor	388	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|pancreas(1)	2						GGCTGCTGGACGCACCGTGCT	0.682													T	9970062	C	T	9970062	2	4	158	1	0	0	0	0	0	0	0	1	7641	535	19	1		1	IL17RC	3	9970062	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	222325	9970062	188052368	517	84298											
TMEM111	55831	broad.mit.edu	37	chr3	10018666	10018666	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggagaaggtggcactacCttccgtttagtttttttgaa	10	6	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:10018666C>T	uc003bun.2	-	3	461	c.282G>A	c.(280-282)AAG>AAA	p.K94K	CIDEC_uc003bto.2_Intron|TMEM111_uc003buo.2_Silent_p.K94K	NM_018447	NP_060917	Q9P0I2	TM111_HUMAN	transmembrane protein 111	94						integral to membrane					0						GTGGCACTACCTTCCGTTTAG	0.368													T	10018666	C	T	10018666	2	4	158	1	0	0	0	0	0	0	0	1	16025	680	24	4		4	TMEM111	3	10018666	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	48604	10018666	188003764	518	84299											
TATDN2	9797	broad.mit.edu	37	chr3	10301898	10301898	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagggtcagaatgatacaatTgaggaacccaacaaggtcca	11	8	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:10301898T>C	uc003bvg.2	+	3	1073	c.492T>C	c.(490-492)ATT>ATC	p.I164I	TATDN2_uc003bvf.2_Silent_p.I164I|TATDN2_uc011atr.1_Silent_p.I164I|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA	NM_014760	NP_055575	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	164						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			pancreas(2)	2						ATGATACAATTGAGGAACCCA	0.443													C	10301898	T	C	10301898	2	2	158	1	0	0	0	0	0	0	0	1	15589	1800	63	3		3	TATDN2	3	10301898	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	283232	10301898	187720532	519	84300											
TATDN2	9797	broad.mit.edu	37	chr3	10311865	10311865	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcttctggaagtgactgGtctgatgttgaggagatctc	12	9	4	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:10311865G>A	uc003bvg.2	+	4	1580	c.999G>A	c.(997-999)TGG>TGA	p.W333*	TATDN2_uc003bvf.2_Nonsense_Mutation_p.W333*|TATDN2_uc011atr.1_Nonsense_Mutation_p.W333*|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA	NM_014760	NP_055575	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	333						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			pancreas(2)	2						GAAGTGACTGGTCTGATGTTG	0.512													A	10311865	G	A	10311865	4	1	158	1	0	0	0	0	0	1	0	0	15589	1270	44	4	1009	4	TATDN2	3	10311865	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	9967	10311865	187710565	520	84301											
ATP2B2	491	broad.mit.edu	37	chr3	10370568	10370568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctgatttgcttgtgtcgGtcgtcaggttgatcccactg	12	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:10370568G>A	uc003bvt.2	-	23	4101	c.3662C>T	c.(3661-3663)ACC>ATC	p.T1221I	ATP2B2_uc003bvv.2_Missense_Mutation_p.T1176I|ATP2B2_uc003bvw.2_Missense_Mutation_p.T1176I|ATP2B2_uc003bvs.2_RNA|ATP2B2_uc010hdo.2_Missense_Mutation_p.T926I|hsa-mir-378b|MI0014154_5'Flank	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	1221	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GCTTGTGTCGGTCGTCAGGTT	0.607													A	10370568	G	A	10370568	3	1	158	1	0	0	0	0	1	0	0	0	1140	1261	44	4	73	4	ATP2B2	3	10370568	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	58703	10370568	187651862	521	84302											
HRH1	3269	broad.mit.edu	37	chr3	11301949	11301949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgggttgcacatgaaccGcgaaaggaaggccgccaaac	12	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:11301949G>A	uc010hdr.2	+	2	1568	c.1226G>A	c.(1225-1227)CGC>CAC	p.R409H	HRH1_uc010hds.2_Missense_Mutation_p.R409H|HRH1_uc010hdt.2_Missense_Mutation_p.R409H|HRH1_uc003bwb.3_Missense_Mutation_p.R409H	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	409	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			large_intestine(1)|ovary(1)	2					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CACATGAACCGCGAAAGGAAG	0.483													A	11301949	G	A	11301949	3	1	158	1	0	0	0	0	1	0	0	0	7355	1087	38	1	1228	1	HRH1	3	11301949	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	931381	11301949	186720481	522	84303											
TIMP4	7079	broad.mit.edu	37	chr3	12200336	12200336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgggccgagggctcccaGgcatgacactgcagatccgc	15	15	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:12200336G>A	uc003bwo.2	-	1	312	c.5C>T	c.(4-6)CCT>CTT	p.P2L	SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.2_Intron|SYN2_uc003bwn.2_Intron	NM_003256	NP_003247	Q99727	TIMP4_HUMAN	tissue inhibitor of metalloproteinase 4	2							metal ion binding|metalloendopeptidase inhibitor activity				0						AGGGCTCCCAGGCATGACACT	0.731													A	12200336	G	A	12200336	3	1	158	1	0	0	0	0	1	0	0	0	15917	1000	35	4	689	4	TIMP4	3	12200336	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	898387	12200336	185822094	523	84304											
CAND2	23066	broad.mit.edu	37	chr3	12858739	12858739	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctggtagggacccgtcccCcgtgtgtggactatgccaaa	12	14	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:12858739C>A	uc003bxk.2	+	10	2357	c.2308C>A	c.(2308-2310)CCG>ACG	p.P770T	CAND2_uc003bxj.2_Missense_Mutation_p.P677T	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	770	HEAT 16.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						GACCCGTCCCCCGTGTGTGGA	0.637													A	12858739	C	A	12858739	3	1	158	1	0	0	0	0	1	0	0	0	2616	623	22	5	2346	5	CAND2	3	12858739	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	658403	12858739	185163691	524	84305											
NUP210	23225	broad.mit.edu	37	chr3	13368884	13368884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggcccacgctgactgtgCggacaacgcaggtgttgttg	14	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:13368884C>T	uc003bxv.1	-	32	4423	c.4340G>A	c.(4339-4341)CGC>CAC	p.R1447H		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1447	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					GCTGACTGTGCGGACAACGCA	0.617													T	13368884	C	T	13368884	3	4	158	1	0	0	0	0	1	0	0	0	10760	768	27	1	1359	1	NUP210	3	13368884	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	510145	13368884	184653546	525	84306											
NUP210	23225	broad.mit.edu	37	chr3	13417008	13417008	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggggtctcacgtacccttAttgtgtactgataggcgccc	12	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:13417008A>G	uc003bxv.1	-	11	1510	c.1427T>C	c.(1426-1428)ATA>ACA	p.I476T	NUP210_uc003bxx.2_Missense_Mutation_p.I148T	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	476	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					ACGTACCCTTATTGTGTACTG	0.473													G	13417008	A	G	13417008	3	3	158	1	0	0	0	0	1	0	0	0	10760	449	16	3	4356	3	NUP210	3	13417008	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	48124	13417008	184605422	526	84307											
WNT7A	7476	broad.mit.edu	37	chr3	13896246	13896246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtacaggcagctgtgatgGcgtgggccacgccggcggca	19	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:13896246G>A	uc003bye.1	-	3	658	c.353C>T	c.(352-354)GCC>GTC	p.A118V		NM_004625	NP_004616	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family,	118					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			ovary(2)|breast(1)	3						AGCTGTGATGGCGTGGGCCAC	0.647													A	13896246	G	A	13896246	3	1	158	1	0	0	0	0	1	0	0	0	17391	1203	42	2	704	2	WNT7A	3	13896246	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	479238	13896246	184126184	527	84308											
C3orf20	84077	broad.mit.edu	37	chr3	14724603	14724603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatggcccgtcaggtgcGcacccaccaggagaccctga	11	17	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:14724603G>A	uc003byy.2	+	3	787	c.383G>A	c.(382-384)CGC>CAC	p.R128H	C3orf20_uc003byz.2_Missense_Mutation_p.R6H|C3orf20_uc003bza.2_Missense_Mutation_p.R6H|C3orf20_uc003byx.1_Missense_Mutation_p.R128H	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	128						cytoplasm|integral to membrane				ovary(3)|skin(1)	4						CGTCAGGTGCGCACCCACCAG	0.532													A	14724603	G	A	14724603	3	1	158	1	0	0	0	0	1	0	0	0	2213	1087	38	1	385	1	C3orf20	3	14724603	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	828357	14724603	183297827	528	84309											
EAF1	85403	broad.mit.edu	37	chr3	15473709	15473709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggaaaaactcagtagcaGcattcaggtgaagaaaacaa	10	7	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:15473709G>A	uc003bzu.2	+	3	537	c.314G>A	c.(313-315)AGC>AAC	p.S105N	EAF1_uc011avq.1_Intron	NM_033083	NP_149074	Q96JC9	EAF1_HUMAN	ELL associated factor 1	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding			central_nervous_system(1)	1						CTCAGTAGCAGCATTCAGGTG	0.383													A	15473709	G	A	15473709	3	1	158	1	0	0	0	0	1	0	0	0	4875	971	34	2	324	2	EAF1	3	15473709	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	749106	15473709	182548721	529	84310											
BTD	686	broad.mit.edu	37	chr3	15686427	15686427	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatgcaacaggtgaaacggAcccatcccatagtaagtttt	9	9	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:15686427A>C	uc003cah.2	+	4	1167	c.1064A>C	c.(1063-1065)GAC>GCC	p.D355A	BTD_uc011avv.1_Missense_Mutation_p.D357A|BTD_uc011avw.1_Missense_Mutation_p.D357A|BTD_uc011avx.1_Missense_Mutation_p.D335A	NM_000060	NP_000051	P43251	BTD_HUMAN	biotinidase precursor	355	CN hydrolase.				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity				0						GGTGAAACGGACCCATCCCAT	0.463													C	15686427	A	C	15686427	3	2	158	1	0	0	0	0	1	0	0	0	1550	275	10	5	1078	5	BTD	3	15686427	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	212718	15686427	182336003	530	84311											
OXNAD1	92106	broad.mit.edu	37	chr3	16343348	16343348	+	Frame_Shift_Del	DEL	A	A	-													ataaaactattctacagtgcAaaaaataccagcgaactcct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:16343348delA	uc003caw.2	+	7	1105	c.648delA	c.(646-648)GCAfs	p.A216fs	OXNAD1_uc010her.1_RNA|OXNAD1_uc003cax.2_Frame_Shift_Del_p.A216fs|OXNAD1_uc011awb.1_Frame_Shift_Del_p.A234fs	NM_138381	NP_612390	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	216							oxidoreductase activity			skin(1)	1						TCTACAGTGCAAAAAATACCA	0.403													-	16343348	A	-	16343348	7	5	158	1	0	1	0	1	0	0	0	0	11333	117	5	0	666	0	OXNAD1	3	16343348	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	656921	16343348	181679082	531	84312											
TBC1D5	9779	broad.mit.edu	37	chr3	17202627	17202627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaggtgcttctgagggtgCgaagaggctgggcctggccg	19	9	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:17202627C>T	uc003cbf.2	-	22	3881	c.2216G>A	c.(2215-2217)CGC>CAC	p.R739H	TBC1D5_uc010heu.2_Missense_Mutation_p.R326H|TBC1D5_uc010hev.2_Missense_Mutation_p.R761H|TBC1D5_uc003cbe.2_Missense_Mutation_p.R739H	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	739						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						TCTGAGGGTGCGAAGAGGCTG	0.582													T	17202627	C	T	17202627	3	4	158	1	0	0	0	0	1	0	0	0	15620	768	27	1	175	1	TBC1D5	3	17202627	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	859279	17202627	180819803	532	84313											
KAT2B	8850	broad.mit.edu	37	chr3	20193927	20193928	+	Frame_Shift_Ins	INS	-	-	C													ccaattgcaaagagtacaacINSccccctgagagtgaatacta					rs139361011		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:20193926_20193927A>AC	uc003cbq.3	+	17	2854_2855	c.2408_2409A>AC	c.(2407-2409)aacfs	p.N803fs		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA.	803	Bromo.				N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						AAAGAGTACAACCCCCCTGAGA	0.381													C	20193928	-	C	20193927	7	5	158	1	0	1	1	0	0	0	0	0	7982	506	18	0	2479	0	KAT2B	3	20193927	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	2991300	20193927	177828503	533	84314											
SGOL1	151648	broad.mit.edu	37	chr3	20219765	20219765	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaatttgatactaacggTaaatccttcacaaataaatt	4	6	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:20219765T>C	uc003cbs.2	-	4	601	c.414A>G	c.(412-414)TTA>TTG	p.L138L	SGOL1_uc003cbr.2_Silent_p.L138L|SGOL1_uc010hfa.2_Silent_p.L138L|SGOL1_uc003cbt.2_Silent_p.L138L|SGOL1_uc003cbu.2_Silent_p.L138L|SGOL1_uc003cbv.2_Silent_p.L138L|SGOL1_uc003cbw.2_Silent_p.L138L|SGOL1_uc003cbx.2_Silent_p.L138L|SGOL1_uc003cby.2_Silent_p.L138L|SGOL1_uc003cbz.2_Silent_p.L138L|SGOL1_uc003cca.2_Silent_p.L138L|SGOL1_uc003ccb.2_Silent_p.L138L|SGOL1_uc003ccc.2_Silent_p.L138L	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 isoform A2	138	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding				0						ATACTAACGGTAAATCCTTCA	0.308													C	20219765	T	C	20219765	2	2	158	1	0	0	0	0	0	0	0	1	14216	1635	57	3		3	SGOL1	3	20219765	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	25838	20219765	177802665	534	84315											
TOP2B	7155	broad.mit.edu	37	chr3	25677550	25677550	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccatcttaaatttggacagAtctggttggaatgttatgca	9	6	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:25677550A>T	uc011awn.1	-	7	772	c.729T>A	c.(727-729)GAT>GAA	p.D243E	TOP2B_uc003cdj.2_Missense_Mutation_p.D238E	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	243					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						ATTTGGACAGATCTGGTTGGA	0.373													T	25677550	A	T	25677550	3	4	158	1	0	0	0	0	1	0	0	0	16363	330	12	5	4271	5	TOP2B	3	25677550	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	5457785	25677550	172344880	535	84316											
OSBPL10	114884	broad.mit.edu	37	chr3	31705672	31705672	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgccgcttctgctcggtggCtgcgtcaatgtcccccagcc	12	16	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:31705672C>A	uc003cev.2	-	12	2530	c.2149G>T	c.(2149-2151)GCC>TCC	p.A717S	OSBPL10_uc003ceu.1_Missense_Mutation_p.A474S|OSBPL10_uc011axf.1_Missense_Mutation_p.A653S	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	717					lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)		TGCTCGGTGGCTGCGTCAATG	0.612													A	31705672	C	A	31705672	3	1	158	1	0	0	0	0	1	0	0	0	11275	797	28	5	153	5	OSBPL10	3	31705672	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	6028122	31705672	166316758	536	84317											
TRIM71	131405	broad.mit.edu	37	chr3	32859644	32859644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgcggctcgccggcgccGctctcctccaactcgtccgc	11	19	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:32859644G>A	uc003cff.2	+	1	135	c.72G>A	c.(70-72)CCG>CCA	p.P24P		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	24	RING-type.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						CGCCGGCGCCGCTCTCCTCCA	0.502													A	32859644	G	A	32859644	2	1	158	1	0	0	0	0	0	0	0	1	16541	1074	38	1		1	TRIM71	3	32859644	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1153972	32859644	165162786	537	84318											
CCR4	1233	broad.mit.edu	37	chr3	32995361	32995361	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgttttccttgagggcaagGaccttgacttatggggtcat	13	7	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:32995361G>A	uc003cfg.1	+	2	615	c.447G>A	c.(445-447)AGG>AGA	p.R149R		NM_005508	NP_005499	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	149	Cytoplasmic (Potential).				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				lung(1)	1						TGAGGGCAAGGACCTTGACTT	0.488													A	32995361	G	A	32995361	2	1	158	1	0	0	0	0	0	0	0	1	2943	1165	41	4		4	CCR4	3	32995361	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	135717	32995361	165027069	538	84319											
GLB1	2720	broad.mit.edu	37	chr3	33055705	33055705	+	Frame_Shift_Del	DEL	C	C	-													cactgtcacggtgtccccagCcccccaggtggctgcacact							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:33055704_33055704GC>G	uc011axk.1	-	15	1839	c.1722_1722GC>C	c.(1720-1722)ggcfs	p.G574fs	GLB1_uc003cfh.1_Frame_Shift_Del_p.G496fs|GLB1_uc003cfi.1_Frame_Shift_Del_p.G526fs|GLB1_uc003cfj.1_Frame_Shift_Del_p.G395fs	NM_001079811	NP_001073279	P16278	BGAL_HUMAN	Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 2, mRNA.	526					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GGTGTCCCCAGCCCCCCAGGT	0.552													-	33055705	C	-	33055705	7	5	158	1	0	1	0	1	0	0	0	0	6427	739	26	0	464	0	GLB1	3	33055705	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	60344	33055705	164966725	539	84320											
TMPPE	643853	broad.mit.edu	37	chr3	33135323	33135323	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgatgatgtaagcacccAggcaggagtaggccgccaag	14	10	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:33135323A>G	uc003cfk.2	-	2	556	c.365T>C	c.(364-366)CTG>CCG	p.L122P	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Intron	NM_001039770	NP_001034859	Q6ZT21	TMPPE_HUMAN	transmembrane protein with	122	Helical; (Potential).					integral to membrane	metal ion binding				0						GTAAGCACCCAGGCAGGAGTA	0.557													G	33135323	A	G	33135323	3	3	158	1	0	0	0	0	1	0	0	0	16235	188	7	3	1000	3	TMPPE	3	33135323	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	79618	33135323	164887107	540	84321											
CRTAP	10491	broad.mit.edu	37	chr3	33174141	33174141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaacctggtgtattaccaGtaccacagggacacttgggg	12	10	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:33174141G>A	uc003cfl.3	+	5	1137	c.1017G>A	c.(1015-1017)CAG>CAA	p.Q339Q	CRTAP_uc010hfz.2_Silent_p.Q296Q|CRTAP_uc003cfm.2_Silent_p.Q160Q|CRTAP_uc003cfn.2_Silent_p.Q160Q	NM_006371	NP_006362	O75718	CRTAP_HUMAN	cartilage associated protein precursor	339						proteinaceous extracellular matrix	binding				0						TGTATTACCAGTACCACAGGG	0.522													A	33174141	G	A	33174141	2	1	158	1	0	0	0	0	0	0	0	1	3898	1020	36	4		4	CRTAP	3	33174141	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	38818	33174141	164848289	541	84322											
ARPP21	10777	broad.mit.edu	37	chr3	35833988	35833988	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaactccggtgcaaagcgTgatggtttcctacccaacaa	10	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:35833988T>C	uc003cgb.2	+	19	2411	c.2147T>C	c.(2146-2148)GTG>GCG	p.V716A	ARPP21_uc003cga.2_Missense_Mutation_p.V697A|ARPP21_uc011axy.1_Missense_Mutation_p.V717A|ARPP21_uc003cgf.2_Missense_Mutation_p.V552A|ARPP21_uc003cgg.2_Missense_Mutation_p.V239A	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	716	Gln-rich.					cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						GTGCAAAGCGTGATGGTTTCC	0.458													C	35833988	T	C	35833988	3	2	158	1	0	0	0	0	1	0	0	0	978	1696	59	3	2226	3	ARPP21	3	35833988	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	2659847	35833988	162188442	542	84323											
DLEC1	9940	broad.mit.edu	37	chr3	38155899	38155899	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggctgccccatcagctccCtgaggaccacctcctacact	8	18	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:38155899C>A	uc003cho.1	+	26	3754	c.3733C>A	c.(3733-3735)CTG>ATG	p.L1245M	DLEC1_uc003chp.1_Missense_Mutation_p.L1245M|DLEC1_uc010hgv.1_Missense_Mutation_p.L1248M|DLEC1_uc003chr.1_Missense_Mutation_p.L316M|DLEC1_uc010hgx.1_RNA|DLEC1_uc003chs.1_5'Flank	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1245					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CATCAGCTCCCTGAGGACCAC	0.612													A	38155899	C	A	38155899	3	1	158	1	0	0	0	0	1	0	0	0	4552	680	24	5	3835	5	DLEC1	3	38155899	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2321911	38155899	159866531	543	84324											
SCN5A	6331	broad.mit.edu	37	chr3	38601889	38601889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacgttcatgatggacgGgatggcgcccaccagggcat	16	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:38601889G>A	uc003cio.2	-	23	4188	c.3994C>T	c.(3994-3996)CCG>TCG	p.P1332S	SCN5A_uc003cin.2_Missense_Mutation_p.P1331S|SCN5A_uc003cil.3_Missense_Mutation_p.P1332S|SCN5A_uc010hhi.2_Missense_Mutation_p.P1332S|SCN5A_uc010hhk.2_Missense_Mutation_p.P1331S|SCN5A_uc011ayr.1_Missense_Mutation_p.P1278S|SCN5A_uc010hhj.1_Missense_Mutation_p.P942S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1332			P -> L (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ATGATGGACGGGATGGCGCCC	0.577													A	38601889	G	A	38601889	3	1	158	1	0	0	0	0	1	0	0	0	13922	1232	43	4	2080	4	SCN5A	3	38601889	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	445990	38601889	159420541	544	84325											
SCN11A	11280	broad.mit.edu	37	chr3	38938349	38938349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacataccacaagttttcctAtcaccgtgatcaatatgaag	5	11	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:38938349A>G	uc011ays.1	-	14	2589	c.2390T>C	c.(2389-2391)ATA>ACA	p.I797T	SCN11A_uc010hhn.1_5'Flank	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	797	II.|Helical; Name=S6 of repeat II; (By similarity).				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAGTTTTCCTATCACCGTGAT	0.348													G	38938349	A	G	38938349	3	3	158	1	0	0	0	0	1	0	0	0	13913	449	16	3	3037	3	SCN11A	3	38938349	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	336460	38938349	159084081	545	84326											
SCN11A	11280	broad.mit.edu	37	chr3	38938482	38938483	+	Frame_Shift_Ins	INS	-	-	C													aggaaggagtgccagaaatcINSccccatgtgccagtgccgta							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:38938481_38938482T>TC	uc021wvy.1	-	13	2456_2457	c.2257_2258A>GA	c.(2257-2259)gatfs	p.D753fs	SCN11A_uc010hhn.1_5'Flank	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	753					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D753Y(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GTGCCAGAAATCCCCCATGTGC	0.49													C	38938483	-	C	38938482	7	5	158	1	0	1	1	0	0	0	0	0	13913	855	30	0	3170	0	SCN11A	3	38938482	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	133	38938482	159083948	546	84327											
WDR48	57599	broad.mit.edu	37	chr3	39107349	39107349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatactgattgggtaaaCgacattgtactctgttgtaa	8	8	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:39107349C>T	uc003cit.2	+	3	247	c.237C>T	c.(235-237)AAC>AAT	p.N79N	WDR48_uc011ayt.1_Silent_p.N79N|WDR48_uc011ayu.1_Intron|WDR48_uc011ayv.1_Intron|WDR48_uc003ciu.2_RNA	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	79	WD 2.				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			ovary(1)|breast(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATTGGGTAAACGACATTGTAC	0.259													T	39107349	C	T	39107349	2	4	158	1	0	0	0	0	0	0	0	1	17298	535	19	1		1	WDR48	3	39107349	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	168867	39107349	158915081	547	84328											
XIRP1	165904	broad.mit.edu	37	chr3	39229301	39229301	+	Frame_Shift_Del	DEL	C	C	-													ccaccgagctgtgccaacgtCcccagccaccacttcctgcc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:39229300_39229300TC>T	uc003cjk.2	-	1	1866	c.1637_1637GA>A	c.(1636-1638)gacfs	p.D546fs	XIRP1_uc003cji.3_Frame_Shift_Del_p.D546fs|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Frame_Shift_Del_p.D546fs	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	546	Interaction with CTNNB1 (By similarity).						actin binding	p.G545A(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGTGCCAACGTCCCCAGCCAC	0.607													-	39229301	C	-	39229301	7	5	158	1	0	1	0	1	0	0	0	0	17426	855	30	0	3899	0	XIRP1	3	39229301	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	121952	39229301	158793129	548	84329											
ZNF620	253639	broad.mit.edu	37	chr3	40557460	40557460	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgccagggaatgtttcccaGcaccttgactttgggagcag	12	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:40557460G>T	uc003ckk.2	+	5	524	c.375G>T	c.(373-375)CAG>CAT	p.Q125H	ZNF620_uc003ckl.2_Missense_Mutation_p.Q11H	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		ATGTTTCCCAGCACCTTGACT	0.493													T	40557460	G	T	40557460	3	4	158	1	0	0	0	0	1	0	0	0	18041	962	34	5	389	5	ZNF620	3	40557460	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1328159	40557460	157464970	549	84330											
HHATL	57467	broad.mit.edu	37	chr3	42739654	42739654	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcatggaagcgatcaaAggtcatgatgggcccgaaga	14	8	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:42739654A>C	uc003clw.2	-	7	820	c.673T>G	c.(673-675)TTT>GTT	p.F225V	HHATL_uc003clx.2_Missense_Mutation_p.F225V	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	225					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.215)		AAGCGATCAAAGGTCATGATG	0.527													C	42739654	A	C	42739654	3	2	158	1	0	0	0	0	1	0	0	0	7090	72	3	5	869	5	HHATL	3	42739654	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	2182194	42739654	155282776	550	84331											
CCBP2	1238	broad.mit.edu	37	chr3	42906981	42906981	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaggctttcctggctgcCgtgcttggatggcacctggc	14	12	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:42906981C>T	uc003cme.2	+	3	1166	c.987C>T	c.(985-987)GCC>GCT	p.A329A	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmf.2_Silent_p.A329A|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron	NM_001296	NP_001287	O00590	CCBP2_HUMAN	chemokine binding protein 2	329	Cytoplasmic (Potential).				chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			lung(4)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TCCTGGCTGCCGTGCTTGGAT	0.557													T	42906981	C	T	42906981	2	4	158	1	0	0	0	0	0	0	0	1	2734	639	23	1		1	CCBP2	3	42906981	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	167327	42906981	155115449	551	84332											
ZNF445	353274	broad.mit.edu	37	chr3	44492863	44492863	+	Frame_Shift_Del	DEL	C	C	-													atagggaggctccaggtggtCccccagagcagagctgctcc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:44492863delC	uc003cnf.2	-	4	889	c.541delG	c.(541-543)GACfs	p.D181fs	ZNF445_uc011azv.1_Frame_Shift_Del_p.D181fs|ZNF445_uc011azw.1_Frame_Shift_Del_p.D181fs	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	181					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TCCAGGTGGTCCCCCAGAGCA	0.577													-	44492863	C	-	44492863	7	5	158	1	0	1	0	1	0	0	0	0	17915	855	30	0	2574	0	ZNF445	3	44492863	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	1585882	44492863	153529567	552	84333											
ZNF197	10168	broad.mit.edu	37	chr3	44685182	44685182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtagtgagtgtggaaaaGgttttacgtacaacagaaac	12	5	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:44685182G>T	uc003cnm.2	+	6	2766	c.2560G>T	c.(2560-2562)GGT>TGT	p.G854C	ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	854	C2H2-type 18.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GTGTGGAAAAGGTTTTACGTA	0.428													T	44685182	G	T	44685182	3	4	158	1	0	0	0	0	1	0	0	0	17756	1000	35	5	2578	5	ZNF197	3	44685182	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	192319	44685182	153337248	553	84334											
SLC6A20	54716	broad.mit.edu	37	chr3	45812748	45812748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgaaggtggccttgaagCcatagatggagaaggtgaca	14	5	0	5			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:45812748C>T	uc011bai.1	-	6	1020	c.896G>A	c.(895-897)GGC>GAC	p.G299D	SLC6A20_uc003cow.2_5'UTR|SLC6A20_uc011baj.1_Missense_Mutation_p.G262D	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	solute carrier family 6, member 20 isoform 1	299	Extracellular (Potential).				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GGCCTTGAAGCCATAGATGGA	0.527													T	45812748	C	T	45812748	3	4	158	1	0	0	0	0	1	0	0	0	14684	739	26	2	906	2	SLC6A20	3	45812748	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1127566	45812748	152209682	554	84335											
LTF	4057	broad.mit.edu	37	chr3	46490409	46490409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaggagcaggtcacgctgCcttcgctcaagccactccac	10	17	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:46490409C>T	uc003cpq.2	-	9	1195	c.1157G>A	c.(1156-1158)GGC>GAC	p.G386D	LTF_uc003fzr.2_Missense_Mutation_p.G342D|LTF_uc010hjh.2_Missense_Mutation_p.G386D|LTF_uc003cpr.2_Missense_Mutation_p.G373D	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	386	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			central_nervous_system(2)|ovary(1)|lung(1)	4				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GGTCACGCTGCCTTCGCTCAA	0.682													T	46490409	C	T	46490409	3	4	158	1	0	0	0	0	1	0	0	0	9079	739	26	2	1011	2	LTF	3	46490409	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	677661	46490409	151532021	555	84336											
RTP3	83597	broad.mit.edu	37	chr3	46539591	46539591	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggaagcaaatgtttcaGgagttaatgcgggaggtgaa	16	3	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:46539591G>T	uc003cps.1	+	1	107	c.39G>T	c.(37-39)CAG>CAT	p.Q13H		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	transmembrane protein 7	13	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		AAATGTTTCAGGAGTTAATGC	0.587													T	46539591	G	T	46539591	3	4	158	1	0	0	0	0	1	0	0	0	13735	991	35	5	41	5	RTP3	3	46539591	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	49182	46539591	151482839	556	84337											
ALS2CL	259173	broad.mit.edu	37	chr3	46727050	46727050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcatcaaagagcagcaCacgctcagcccgcaacggtg	11	14	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:46727050C>T	uc003cqa.1	-	7	941	c.751G>A	c.(751-753)GTG>ATG	p.V251M	ALS2CL_uc003cqb.1_Missense_Mutation_p.V251M|ALS2CL_uc003cqc.1_RNA	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1	251					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AAGAGCAGCACACGCTCAGCC	0.622													T	46727050	C	T	46727050	3	4	158	1	0	0	0	0	1	0	0	0	551	478	17	4	2190	4	ALS2CL	3	46727050	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	187459	46727050	151295380	557	84338											
NBEAL2	23218	broad.mit.edu	37	chr3	47041836	47041836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaatgtgctggaggacgGcagcctcccggagcccacca	12	16	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:47041836G>A	uc003cqp.2	+	27	4426	c.4247G>A	c.(4246-4248)GGC>GAC	p.G1416D	NBEAL2_uc010hjm.1_Missense_Mutation_p.G793D|NBEAL2_uc010hjn.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1416							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CTGGAGGACGGCAGCCTCCCG	0.667													A	47041836	G	A	47041836	3	1	158	1	0	0	0	0	1	0	0	0	10189	1203	42	2	4353	2	NBEAL2	3	47041836	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	314786	47041836	150980594	558	84339											
NBEAL2	23218	broad.mit.edu	37	chr3	47045639	47045639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgtttcaacctgcgccGttcagcacttgagctcttct	10	14	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:47045639G>A	uc003cqp.2	+	37	6133	c.5954G>A	c.(5953-5955)CGT>CAT	p.R1985H	NBEAL2_uc010hjm.1_Missense_Mutation_p.R1362H|NBEAL2_uc010hjn.1_Missense_Mutation_p.R381H|NBEAL2_uc010hjo.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1985							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AACCTGCGCCGTTCAGCACTT	0.592													A	47045639	G	A	47045639	3	1	158	1	0	0	0	0	1	0	0	0	10189	1145	40	1	6100	1	NBEAL2	3	47045639	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3803	47045639	150976791	559	84340											
KIF9	64147	broad.mit.edu	37	chr3	47286326	47286326	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggacttggctttcttcccaGgtttggtagagaaaggggcg	15	7	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:47286326G>T	uc010hjp.2	-	16	2073	c.1469C>A	c.(1468-1470)CCT>CAT	p.P490H	KIF9_uc003cqx.2_Missense_Mutation_p.P490H|KIF9_uc003cqy.2_Missense_Mutation_p.P490H|KIF9_uc011bat.1_RNA	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN	kinesin family member 9 isoform 2	490					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TTTCTTCCCAGGTTTGGTAGA	0.562													T	47286326	G	T	47286326	3	4	158	1	0	0	0	0	1	0	0	0	8310	1000	35	5	931	5	KIF9	3	47286326	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	240687	47286326	150736104	560	84341											
C3orf75	54859	broad.mit.edu	37	chr3	47555042	47555042	+	Frame_Shift_Del	DEL	G	G	-													cttacctgctccgccctgtcGggggtggtgttaagcaggtt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:47555041_47555041CG>C	uc003crk.3	-	0	159	c.40_40CG>G	c.(40-42)gacfs	p.D14fs	C3orf75_uc011bba.2_5'UTR|C3orf75_uc003crl.1_Frame_Shift_Del_p.D14fs	NM_001031703	NP_001026873	Q0PNE2	CC075_HUMAN	Homo sapiens chromosome 3 open reading frame 75 (C3orf75), mRNA.	14										endometrium(2)|large_intestine(1)|lung(2)	5						TCCGCCCTGTCGGGGGTGGTG	0.657													-	47555042	G	-	47555042	7	5	158	1	0	1	0	1	0	0	0	0	2245	1103	39	0	789	0	C3orf75	3	47555042	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	268716	47555042	150467388	561	84342											
DHX30	22907	broad.mit.edu	37	chr3	47889027	47889027	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtacctcatcctgccagGtgagagccccggcggaggga	14	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:47889027G>A	uc003cru.2	+	13	2536	c.2110_splice	c.e13+1	p.V704_splice	DHX30_uc003crt.2_Splice_Site_p.V665_splice|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30							mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATCCTGCCAGGTGAGAGCCCC	0.637													A	47889027	G	A	47889027	5	1	158	1	0	0	0	0	0	0	1	0	4504	1275	44	4	2164	4	DHX30	3	47889027	Splice_Site	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	333985	47889027	150133403	562	84343											
CDC25A	993	broad.mit.edu	37	chr3	48200932	48200932	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acccaggcgatctctctctcTcacataccggcacctagtca	6	17	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:48200932T>A	uc003csh.1	-	14	1700	c.1336A>T	c.(1336-1338)AGA>TGA	p.R446*	CDC25A_uc003csi.1_Nonsense_Mutation_p.R406*	NM_001789	NP_001780	P30304	MPIP1_HUMAN	cell division cycle 25A isoform a	446	Rhodanese.				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)		TCTCTCTCTCTCACATACCGG	0.507													A	48200932	T	A	48200932	4	1	158	1	0	0	0	0	0	1	0	0	3062	1559	54	5	246	5	CDC25A	3	48200932	Nonsense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	311905	48200932	149821498	563	84344											
PLXNB1	5364	broad.mit.edu	37	chr3	48453996	48453996	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaggcacggtcccgagctgAaaaggtgcgctggctctcca	14	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:48453996A>G	uc003csw.2	-	26	5158	c.4888T>C	c.(4888-4890)TCA>CCA	p.S1630P	PLXNB1_uc003cst.2_Missense_Mutation_p.S80P|PLXNB1_uc003csu.2_Missense_Mutation_p.S1447P|PLXNB1_uc003csx.2_Missense_Mutation_p.S1630P	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1630	Cytoplasmic (Potential).				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCCGAGCTGAAAAGGTGCGC	0.577													G	48453996	A	G	48453996	3	3	158	1	0	0	0	0	1	0	0	0	12123	246	9	3	1571	3	PLXNB1	3	48453996	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	253064	48453996	149568434	564	84345											
PLXNB1	5364	broad.mit.edu	37	chr3	48464927	48464927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcaccactggcagctgtGcacagtcagaattgacatca	8	12	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:48464927G>A	uc003csw.2	-	3	1364	c.1094C>T	c.(1093-1095)GCA>GTA	p.A365V	PLXNB1_uc003csu.2_Missense_Mutation_p.A365V|PLXNB1_uc003csx.2_Missense_Mutation_p.A365V|PLXNB1_uc010hjx.1_RNA	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	365	Extracellular (Potential).|Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGCAGCTGTGCACAGTCAGA	0.582													A	48464927	G	A	48464927	3	1	158	1	0	0	0	0	1	0	0	0	12123	1319	46	2	5457	2	PLXNB1	3	48464927	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	10931	48464927	149557503	565	84346											
TREX1	11277	broad.mit.edu	37	chr3	48508725	48508725	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtggatgctcacgccaGgcctttcggcaccatcaggc	14	13	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:48508725G>T	uc003ctj.2	+	2	2093	c.836G>T	c.(835-837)AGG>ATG	p.R279M	TREX1_uc010hjy.2_Missense_Mutation_p.R224M|TREX1_uc003ctk.2_Missense_Mutation_p.R85M|TREX1_uc010hjz.2_Missense_Mutation_p.R224M|TREX1_uc010hka.2_Missense_Mutation_p.R279M	NM_033629	NP_338599	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1 isoform b	279					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCTCACGCCAGGCCTTTCGGC	0.622								Direct_reversal_of_damage|Editing_and_processing_nucleases					T	48508725	G	T	48508725	3	4	158	1	0	0	0	0	1	0	0	0	16473	1000	35	5	838	5	TREX1	3	48508725	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	43798	48508725	149513705	566	84347											
CELSR3	1951	broad.mit.edu	37	chr3	48681695	48681695	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctgtggagcaggatgTgcgggcagcgaggagaaaca	17	9	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:48681695T>C	uc003cul.2	-	27	8400	c.8119A>G	c.(8119-8121)ACA>GCA	p.T2707A	CELSR3_uc003cuf.1_Missense_Mutation_p.T2804A|CELSR3_uc010hkf.2_5'Flank|CELSR3_uc010hkg.2_Missense_Mutation_p.T690A	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	2707	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGCAGGATGTGCGGGCAGCG	0.552													C	48681695	T	C	48681695	3	2	158	1	0	0	0	0	1	0	0	0	3223	1696	59	3	1855	3	CELSR3	3	48681695	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	172970	48681695	149340735	567	84348											
CELSR3	1951	broad.mit.edu	37	chr3	48699591	48699591	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgagcccgggacccctgaGgacagagcccctggtgacag	14	16	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:48699591G>T	uc003cul.2	-	1	758	c.477C>A	c.(475-477)TCC>TCA	p.S159S	CELSR3_uc003cuf.1_Silent_p.S229S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	159	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGACCCCTGAGGACAGAGCCC	0.632													T	48699591	G	T	48699591	2	4	158	1	0	0	0	0	0	0	0	1	3223	987	35	5		5	CELSR3	3	48699591	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	17896	48699591	149322839	568	84349											
ARIH2	10425	broad.mit.edu	37	chr3	49017843	49017843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agacataccagcggattcacGagaagattcaggagagggtc	13	8	2	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:49017843G>A	uc003cvb.2	+	13	1483	c.1171G>A	c.(1171-1173)GAG>AAG	p.E391K	ARIH2_uc003cvc.2_Missense_Mutation_p.E391K|ARIH2_uc003cvf.2_Missense_Mutation_p.E309K|ARIH2_uc010hkl.2_Intron	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	391	Potential.				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GCGGATTCACGAGAAGATTCA	0.493													A	49017843	G	A	49017843	3	1	158	1	0	0	0	0	1	0	0	0	924	1059	37	1	1213	1	ARIH2	3	49017843	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	318252	49017843	149004587	569	84350											
USP19	10869	broad.mit.edu	37	chr3	49148785	49148785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcacttggatgctggtaCccaggcacagcagctgtgtg	13	11	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:49148785C>T	uc003cwd.1	-	21	3083	c.2922G>A	c.(2920-2922)GGG>GGA	p.G974G	USP19_uc003cwa.2_Silent_p.G782G|USP19_uc003cvz.3_Silent_p.G1077G|USP19_uc011bcg.1_Silent_p.G1065G|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Silent_p.G732G|USP19_uc011bch.1_Silent_p.G1075G	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	974	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GATGCTGGTACCCAGGCACAG	0.532													T	49148785	C	T	49148785	2	4	158	1	0	0	0	0	0	0	0	1	17047	494	18	4		4	USP19	3	49148785	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	130942	49148785	148873645	570	84351											
LAMB2	3913	broad.mit.edu	37	chr3	49160234	49160234	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttagccttgtccagggctgcCtgggcccgctgctgtgcctc	13	15	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:49160234C>A	uc003cwe.2	-	27	4775	c.4476G>T	c.(4474-4476)CAG>CAT	p.Q1492H	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1492	Potential.|Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCAGGGCTGCCTGGGCCCGCT	0.602													A	49160234	C	A	49160234	3	1	158	1	0	0	0	0	1	0	0	0	8611	680	24	5	944	5	LAMB2	3	49160234	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	11449	49160234	148862196	571	84352											
LAMB2	3913	broad.mit.edu	37	chr3	49168433	49168433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggtgcacactctgaggCgtgtccgtagcagaagcagt	16	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:49168433C>T	uc003cwe.2	-	7	1164	c.865G>A	c.(865-867)GCC>ACC	p.A289T	LAMB2_uc003cwf.1_Missense_Mutation_p.A289T	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	289	Laminin EGF-like 1.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACTCTGAGGCGTGTCCGTAG	0.612													T	49168433	C	T	49168433	3	4	158	1	0	0	0	0	1	0	0	0	8611	768	27	1	4635	1	LAMB2	3	49168433	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	8199	49168433	148853997	572	84353											
DAG1	1605	broad.mit.edu	37	chr3	49568912	49568912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacacccacacctgtcactgCcattgggcccccaaccacgg	7	19	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:49568912C>T	uc003cxc.3	+	3	1386	c.968C>T	c.(967-969)GCC>GTC	p.A323V		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	323	Thr-rich.|Required for laminin recognition.|Mucin-like domain.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCTGTCACTGCCATTGGGCCC	0.607													T	49568912	C	T	49568912	3	4	158	1	0	0	0	0	1	0	0	0	4225	739	26	2	974	2	DAG1	3	49568912	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	400479	49568912	148453518	573	84354											
DAG1	1605	broad.mit.edu	37	chr3	49569629	49569629	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacagccagctcatgtAtggccttcccgacagcagcc	9	16	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:49569629A>G	uc003cxc.3	+	3	2103	c.1685A>G	c.(1684-1686)TAT>TGT	p.Y562C		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	562	Peptidase S72.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CAGCTCATGTATGGCCTTCCC	0.582													G	49569629	A	G	49569629	3	3	158	1	0	0	0	0	1	0	0	0	4225	449	16	3	1691	3	DAG1	3	49569629	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	717	49569629	148452801	574	84355											
RNF123	63891	broad.mit.edu	37	chr3	49758693	49758693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatcgtgtctgtagaggaCtgggagaagggagccaatac	14	8	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:49758693C>T	uc003cxh.2	+	39	3986	c.3900C>T	c.(3898-3900)GAC>GAT	p.D1300D	RNF123_uc003cxi.2_RNA|AMIGO3_uc003cxj.2_5'Flank	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	1300						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTGTAGAGGACTGGGAGAAGG	0.552													T	49758693	C	T	49758693	2	4	158	1	0	0	0	0	0	0	0	1	13433	564	20	4		4	RNF123	3	49758693	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	189064	49758693	148263737	575	84356											
MON1A	84315	broad.mit.edu	37	chr3	49948980	49948980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatggatggagcggatggCgttcttgtctgcctccagga	15	9	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:49948980C>T	uc003cxz.2	-	3	1009	c.883G>A	c.(883-885)GCC>ACC	p.A295T	MON1A_uc003cya.2_Intron|MON1A_uc003cyb.2_Intron	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	MON1 homolog A isoform a	198							protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GAGCGGATGGCGTTCTTGTCT	0.597													T	49948980	C	T	49948980	3	4	158	1	0	0	0	0	1	0	0	0	9698	768	27	1	1091	1	MON1A	3	49948980	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	190287	49948980	148073450	576	84357											
RBM6	10180	broad.mit.edu	37	chr3	50095850	50095850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagctatcatgctaaagcGtatctatcgttccacaccac	5	13	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:50095850G>A	uc003cyc.2	+	10	2118	c.1985G>A	c.(1984-1986)CGT>CAT	p.R662H	RBM6_uc010hlc.1_Missense_Mutation_p.R181H|RBM6_uc003cyd.2_Missense_Mutation_p.R140H|RBM6_uc003cye.2_Missense_Mutation_p.R140H|RBM6_uc011bdi.1_Missense_Mutation_p.R4H|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	662					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ATGCTAAAGCGTATCTATCGT	0.448													A	50095850	G	A	50095850	3	1	158	1	0	0	0	0	1	0	0	0	13144	1145	40	1	2019	1	RBM6	3	50095850	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	146870	50095850	147926580	577	84358											
DNAH1	25981	broad.mit.edu	37	chr3	52412741	52412741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactacaccttcaacctgaGggacctctccaaggtcttcc	6	17	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:52412741G>A	uc011bef.1	+	47	7583	c.7322G>A	c.(7321-7323)AGG>AAG	p.R2441K		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2441	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTCAACCTGAGGGACCTCTCC	0.612													A	52412741	G	A	52412741	3	1	158	1	0	0	0	0	1	0	0	0	4597	1000	35	4	7504	4	DNAH1	3	52412741	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2316891	52412741	145609689	578	84359											
PBRM1	55193	broad.mit.edu	37	chr3	52597340	52597340	+	Frame_Shift_Del	DEL	G	G	-													gaggtccagctcactggccaGgggggtctgaagctgaggta							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:52597339_52597339AG>A	uc003des.2	-	23	4058	c.4046_4046CT>T	c.(4045-4047)ctgfs	p.L1349fs	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Del_p.L1349fs|PBRM1_uc003der.2_Frame_Shift_Del_p.L1317fs|PBRM1_uc003det.2_Frame_Shift_Del_p.L1364fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.L1364fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Del_p.L1349fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.L1324fs|PBRM1_uc003dey.2_Intron|PBRM1_uc003dez.1_Frame_Shift_Del_p.L1348fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1349				L -> P (in Ref. 4; AAI15010).	chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.L1349fs*35(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTCACTGGCCAGGGGGGTCTG	0.493			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								-	52597340	G	-	52597340	7	5	158	1	0	1	0	1	0	0	0	0	11491	991	35	0	883	0	PBRM1	3	52597340	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	184599	52597340	145425090	579	84360											
ITIH1	3697	broad.mit.edu	37	chr3	52813485	52813485	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggagcaattcaccatccacCtcaccgtcaatccccagagc	6	17	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:52813485C>A	uc003dfs.2	+	5	472	c.448C>A	c.(448-450)CTC>ATC	p.L150I	ITIH1_uc010hmn.1_RNA	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	150	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CACCATCCACCTCACCGTCAA	0.498													A	52813485	C	A	52813485	3	1	158	1	0	0	0	0	1	0	0	0	7903	681	24	5	466	5	ITIH1	3	52813485	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	216145	52813485	145208945	580	84361											
ITIH4	3700	broad.mit.edu	37	chr3	52847501	52847501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctggtaatccagcctgCgctctctgaaatggaaagac	9	13	1	2	rs113454148	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:52847501C>T	uc003dfz.2	-	24	2765	c.2729G>A	c.(2728-2730)CGC>CAC	p.R910H	uc003dfw.1_5'Flank|ITIH4_uc011bel.1_Missense_Mutation_p.R624H|ITIH4_uc003dfy.2_Missense_Mutation_p.R705H|ITIH4_uc011bem.1_Missense_Mutation_p.R915H|ITIH4_uc011ben.1_Missense_Mutation_p.R880H	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	910					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ATCCAGCCTGCGCTCTCTGAA	0.567													T	52847501	C	T	52847501	3	4	158	1	0	0	0	0	1	0	0	0	7906	768	27	1	67	1	ITIH4	3	52847501	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	34016	52847501	145174929	581	84362											
RFT1	91869	broad.mit.edu	37	chr3	53156577	53156577	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaaaacacacccagggggActctagaagaggagaaaaaa	10	9	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:53156577A>G	uc003dgj.2	-	4	323	c.269T>C	c.(268-270)GTC>GCC	p.V90A	RFT1_uc003dgk.2_Missense_Mutation_p.V51A	NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	RFT1 homolog	90	Helical; (Potential).				carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		ACCCAGGGGGACTCTAGAAGA	0.338													G	53156577	A	G	53156577	3	3	158	1	0	0	0	0	1	0	0	0	13257	275	10	3	1396	3	RFT1	3	53156577	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	309076	53156577	144865853	582	84363											
CACNA1D	776	broad.mit.edu	37	chr3	53760915	53760915	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcttctcagatcctgacaGgcgaagactggaatgctgtg	13	9	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:53760915G>T	uc003dgv.3	+	15	2273	c.2110G>T	c.(2110-2112)GGC>TGC	p.G704C	CACNA1D_uc003dgu.3_Missense_Mutation_p.G724C|CACNA1D_uc003dgy.3_Missense_Mutation_p.G704C|CACNA1D_uc003dgw.3_Missense_Mutation_p.G371C	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	704	Extracellular (Potential).|II.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GATCCTGACAGGCGAAGACTG	0.517													T	53760915	G	T	53760915	3	4	158	1	0	0	0	0	1	0	0	0	2541	1000	35	5	2340	5	CACNA1D	3	53760915	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	604338	53760915	144261515	583	84364											
CACNA1D	776	broad.mit.edu	37	chr3	53777054	53777054	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctagatgacaacttttggagCtttcctccacaaaggggcct	9	11	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:53777054C>A	uc003dgv.3	+	22	2991	c.2828C>A	c.(2827-2829)GCT>GAT	p.A943D	CACNA1D_uc003dgu.3_Missense_Mutation_p.A963D|CACNA1D_uc003dgy.3_Missense_Mutation_p.A943D|CACNA1D_uc003dgw.3_Missense_Mutation_p.A610D|CACNA1D_uc003dgx.1_Missense_Mutation_p.A91D	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	943	Cytoplasmic (Potential).|III.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ACTTTTGGAGCTTTCCTCCAC	0.428													A	53777054	C	A	53777054	3	1	158	1	0	0	0	0	1	0	0	0	2541	797	28	5	3086	5	CACNA1D	3	53777054	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	16139	53777054	144245376	584	84365											
CHDH	55349	broad.mit.edu	37	chr3	53852202	53852202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgagcttcacacacagacGgaaatcctcaatatcagttt	8	10	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:53852202G>A	uc003dgz.2	-	9	1827	c.1387C>T	c.(1387-1389)CGT>TGT	p.R463C		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	choline dehydrogenase precursor	463					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			ovary(1)|central_nervous_system(1)	2		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	ACACACAGACGGAAATCCTCA	0.527													A	53852202	G	A	53852202	3	1	158	1	0	0	0	0	1	0	0	0	3333	1116	39	1	401	1	CHDH	3	53852202	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	75148	53852202	144170228	585	84366											
CACNA2D3	55799	broad.mit.edu	37	chr3	54596940	54596940	+	Frame_Shift_Del	DEL	T	T	-													actttggaagtgcaaagggcTtttttaggcagtatccgggt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:54596940delT	uc003dhf.2	+	6	706	c.658delT	c.(658-660)TTTfs	p.F220fs	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Frame_Shift_Del_p.F126fs|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_5'UTR	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	220	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGCAAAGGGCTTTTTTAGGCA	0.378													-	54596940	T	-	54596940	7	5	158	1	0	1	0	1	0	0	0	0	2550	1609	56	0	680	0	CACNA2D3	3	54596940	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	744738	54596940	143425490	586	84367											
FLNB	2317	broad.mit.edu	37	chr3	58094188	58094188	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctgcctttgcttcaggttCgagcatacgggccaggtttg	12	10	2	0	rs80356517		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:58094188C>T	uc003djj.2	+	13	2110	c.1945C>T	c.(1945-1947)CGA>TGA	p.R649*	FLNB_uc010hne.2_Nonsense_Mutation_p.R649*|FLNB_uc003djk.2_Nonsense_Mutation_p.R649*|FLNB_uc010hnf.2_Nonsense_Mutation_p.R649*|FLNB_uc003djl.2_Nonsense_Mutation_p.R480*|FLNB_uc003djm.2_Nonsense_Mutation_p.R480*	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	649	Filamin 5.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCTTCAGGTTCGAGCATACGG	0.468													T	58094188	C	T	58094188	4	4	158	1	0	0	0	0	0	1	0	0	5934	876	31	1	1995	1	FLNB	3	58094188	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	3497248	58094188	139928242	587	84368											
FLNB	2317	broad.mit.edu	37	chr3	58098037	58098037	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacggttaaatatacacccAcccaacaggtagggtccttc	7	13	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:58098037A>G	uc003djj.2	+	18	2902	c.2737A>G	c.(2737-2739)ACC>GCC	p.T913A	FLNB_uc010hne.2_Missense_Mutation_p.T913A|FLNB_uc003djk.2_Missense_Mutation_p.T913A|FLNB_uc010hnf.2_Missense_Mutation_p.T913A|FLNB_uc003djl.2_Missense_Mutation_p.T744A|FLNB_uc003djm.2_Missense_Mutation_p.T744A	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	913	Filamin 7.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ATATACACCCACCCAACAGGT	0.547													G	58098037	A	G	58098037	3	3	158	1	0	0	0	0	1	0	0	0	5934	159	6	3	2807	3	FLNB	3	58098037	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	3849	58098037	139924393	588	84369											
FLNB	2317	broad.mit.edu	37	chr3	58135696	58135696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgcctggggtttatatcGtctccaccaaattcgctgac	9	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:58135696G>A	uc003djj.2	+	37	6376	c.6211G>A	c.(6211-6213)GTC>ATC	p.V2071I	FLNB_uc010hne.2_Missense_Mutation_p.V2102I|FLNB_uc003djk.2_Missense_Mutation_p.V2060I|FLNB_uc010hnf.2_Missense_Mutation_p.V2047I|FLNB_uc003djl.2_Missense_Mutation_p.V1891I|FLNB_uc003djm.2_Missense_Mutation_p.V1878I|FLNB_uc010hng.1_RNA	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	2071	Interaction with FLNA 1.|Filamin 19.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGTTTATATCGTCTCCACCAA	0.562													A	58135696	G	A	58135696	3	1	158	1	0	0	0	0	1	0	0	0	5934	1145	40	1	6454	1	FLNB	3	58135696	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	37659	58135696	139886734	589	84370											
PXK	54899	broad.mit.edu	37	chr3	58380796	58380796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctaattaggatgtttaaCgaaaagggaacattgaagga	11	3	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:58380796C>T	uc003djz.1	+	8	786	c.687C>T	c.(685-687)AAC>AAT	p.N229N	PXK_uc003djx.1_Silent_p.N229N|PXK_uc003djy.1_Silent_p.N212N|PXK_uc003dka.1_Silent_p.N229N|PXK_uc003dkb.1_Silent_p.N146N|PXK_uc003dkc.1_Silent_p.N212N|PXK_uc011bfe.1_Silent_p.N196N|PXK_uc010hnj.1_Silent_p.N196N|PXK_uc003dkd.1_Silent_p.N92N|PXK_uc010hnk.1_Silent_p.N3N	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	229	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		GGATGTTTAACGAAAAGGGAA	0.383													T	58380796	C	T	58380796	2	4	158	1	0	0	0	0	0	0	0	1	12849	535	19	1		1	PXK	3	58380796	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	245100	58380796	139641634	590	84371											
FHIT	2272	broad.mit.edu	37	chr3	59999865	59999865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctccactggccgcagcggGcacacaaggacatctgtagc	12	15	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:59999865G>A	uc003dkx.3	-	6	488	c.117C>T	c.(115-117)TGC>TGT	p.C39C	FHIT_uc003dky.2_Silent_p.C39C|FHIT_uc010hnn.1_Silent_p.C39C	NM_002012	NP_002003	P49789	FHIT_HUMAN	fragile histidine triad gene	39	HIT.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding				0		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		GCCGCAGCGGGCACACAAGGA	0.532			T	HMGA2	pleomorphic salivary gland adenoma				Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3				A	59999865	G	A	59999865	2	1	158	1	0	0	0	0	0	0	0	1	5877	1195	42	2		2	FHIT	3	59999865	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1619069	59999865	138022565	591	84372											
CADPS	8618	broad.mit.edu	37	chr3	62860690	62860690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgattcttcttcgctggaCgaagggtccagcatagtggc	12	11	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:62860690C>T	uc003dll.2	-	1	375	c.15G>A	c.(13-15)TCG>TCA	p.S5S	CADPS_uc003dlm.2_Silent_p.S5S|CADPS_uc003dln.2_Silent_p.S5S	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	5					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTTCGCTGGACGAAGGGTCCA	0.687													T	62860690	C	T	62860690	2	4	158	1	0	0	0	0	0	0	0	1	2570	523	19	1		1	CADPS	3	62860690	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2860825	62860690	135161740	592	84373											
PRICKLE2	166336	broad.mit.edu	37	chr3	64085234	64085234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaaacggcggttgtcgtcGcgtgaagtagctcttctccg	14	11	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:64085234G>A	uc003dmf.2	-	8	2614	c.2028C>T	c.(2026-2028)CGC>CGT	p.R676R		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	676	Arg-rich.					cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGTTGTCGTCGCGTGAAGTAG	0.642													A	64085234	G	A	64085234	2	1	158	1	0	0	0	0	0	0	0	1	12487	1074	38	1		1	PRICKLE2	3	64085234	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1224544	64085234	133937196	593	84374											
ADAMTS9	56999	broad.mit.edu	37	chr3	64644466	64644466	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttactgtgcctatttttgtgTtctgtaacaaatcagatggt	8	6	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:64644466T>C	uc003dmg.2	-	4	713	c.681A>G	c.(679-681)GAA>GAG	p.E227E	ADAMTS9_uc011bfo.1_Silent_p.E227E|ADAMTS9_uc003dmh.1_Silent_p.E56E|ADAMTS9_uc003dmk.1_Silent_p.E227E	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	227	Cysteine switch (By similarity).				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TATTTTTGTGTTCTGTAACAA	0.363													C	64644466	T	C	64644466	2	2	158	1	0	0	0	0	0	0	0	1	273	1739	60	3		3	ADAMTS9	3	64644466	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	559232	64644466	133377964	594	84375											
SLC25A26	115286	broad.mit.edu	37	chr3	66293716	66293716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctatgaaacatatgttgGctgcctctgctggagaagtg	11	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:66293716G>A	uc011bfq.1	+	4	1008	c.280G>A	c.(280-282)GCT>ACT	p.A94T	SLC25A26_uc011bfs.1_Missense_Mutation_p.A6T|SLC25A26_uc011bft.1_RNA|SLC25A26_uc011bfr.1_Missense_Mutation_p.A94T|SLC25A26_uc003dmt.2_Missense_Mutation_p.A6T	NM_173471	NP_775742	Q70HW3	SAMC_HUMAN	solute carrier family 25, member 26 isoform a	94	Solcar 2.|Helical; Name=3; (Potential).					integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity			pancreas(1)	1		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		ACATATGTTGGCTGCCTCTGC	0.313													A	66293716	G	A	66293716	3	1	158	1	0	0	0	0	1	0	0	0	14489	1203	42	2	92	2	SLC25A26	3	66293716	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1649250	66293716	131728714	595	84376											
LRIG1	26018	broad.mit.edu	37	chr3	66430714	66430714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggtgccaacagcagtggCaccctctgtttcccggggag	13	12	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:66430714C>T	uc003dmx.2	-	19	3269	c.3255G>A	c.(3253-3255)GTG>GTA	p.V1085V	SLC25A26_uc011bft.1_RNA|LRIG1_uc011bfu.1_Silent_p.V705V|LRIG1_uc003dmw.2_Silent_p.V751V|LRIG1_uc010hnz.2_Silent_p.V801V|LRIG1_uc010hoa.2_Silent_p.V1062V	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	1085	Cytoplasmic (Potential).					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ACAGCAGTGGCACCCTCTGTT	0.547													T	66430714	C	T	66430714	2	4	158	1	0	0	0	0	0	0	0	1	8944	697	25	2		2	LRIG1	3	66430714	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	136998	66430714	131591716	596	84377											
LRIG1	26018	broad.mit.edu	37	chr3	66436662	66436662	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcatgtaaaccggatgTccttgcccaccatagccatg	9	13	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:66436662T>C	uc003dmx.2	-	13	1546	c.1532A>G	c.(1531-1533)GAC>GGC	p.D511G	SLC25A26_uc011bft.1_RNA|LRIG1_uc011bfu.1_Missense_Mutation_p.D131G|LRIG1_uc003dmw.2_Missense_Mutation_p.D177G|LRIG1_uc010hnz.2_Missense_Mutation_p.D227G|LRIG1_uc010hoa.2_Missense_Mutation_p.D535G	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	511	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AAACCGGATGTCCTTGCCCAC	0.537													C	66436662	T	C	66436662	3	2	158	1	0	0	0	0	1	0	0	0	8944	1667	58	3	1777	3	LRIG1	3	66436662	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	5948	66436662	131585768	597	84378											
LRIG1	26018	broad.mit.edu	37	chr3	66463427	66463427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatcagccgaatcctgttcCgattgaggtccctaaagaga	9	11	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:66463427C>T	uc003dmx.2	-	6	673	c.659G>A	c.(658-660)CGG>CAG	p.R220Q	LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Missense_Mutation_p.R220Q	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	220	Extracellular (Potential).|LRR 7.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AATCCTGTTCCGATTGAGGTC	0.517													T	66463427	C	T	66463427	3	4	158	1	0	0	0	0	1	0	0	0	8944	652	23	1	2678	1	LRIG1	3	66463427	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	26765	66463427	131559003	598	84379											
FRMD4B	23150	broad.mit.edu	37	chr3	69231821	69231821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcgtcctccctggggcCgcctctccagagttttgtaa	10	14	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:69231821C>T	uc003dnv.2	-	20	2257	c.1967G>A	c.(1966-1968)CGG>CAG	p.R656Q	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.R308Q|FRMD4B_uc011bga.1_Missense_Mutation_p.R500Q	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	656						cytoplasm|cytoskeleton	binding			ovary(3)|central_nervous_system(1)	4		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TCCCTGGGGCCGCCTCTCCAG	0.493													T	69231821	C	T	69231821	3	4	158	1	0	0	0	0	1	0	0	0	6052	652	23	1	1153	1	FRMD4B	3	69231821	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2768394	69231821	128790609	599	84380											
FRMD4B	23150	broad.mit.edu	37	chr3	69435090	69435090	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaagttccatacgaagcgGctgccgctgaacagcaggtc	12	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:69435090G>A	uc003dnv.2	-	1	341	c.51C>T	c.(49-51)AGC>AGT	p.S17S	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dny.2_Silent_p.S17S	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	17						cytoplasm|cytoskeleton	binding			ovary(3)|central_nervous_system(1)	4		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		ATACGAAGCGGCTGCCGCTGA	0.657													A	69435090	G	A	69435090	2	1	158	1	0	0	0	0	0	0	0	1	6052	1194	42	2		2	FRMD4B	3	69435090	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	203269	69435090	128587340	600	84381											
FOXP1	27086	broad.mit.edu	37	chr3	71015109	71015109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtatgctccattgccccGttcagctcttcccgtattgc	8	14	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:71015109G>A	uc003dol.2	-	16	2144	c.1821C>T	c.(1819-1821)AAC>AAT	p.N607N	FOXP1_uc003dom.2_Silent_p.N531N|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Silent_p.N606N|FOXP1_uc003dop.2_Silent_p.N607N|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Silent_p.N507N|FOXP1_uc003doj.2_Silent_p.N507N|FOXP1_uc003dok.2_Silent_p.N420N	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	607					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CCATTGCCCCGTTCAGCTCTT	0.512			T	PAX5	ALL								A	71015109	G	A	71015109	2	1	158	1	0	0	0	0	0	0	0	1	6026	1136	40	1		1	FOXP1	3	71015109	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1580019	71015109	127007321	601	84382											
EIF4E3	317649	broad.mit.edu	37	chr3	71745673	71745673	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcattactctcctcttcccTgggccaaagaccaacgttta	6	14	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:71745673T>G	uc003dov.3	-	4	353	c.345_splice	c.e4-1	p.W115_splice	EIF4E3_uc011bgc.1_Splice_Site_p.W9_splice|EIF4E3_uc003dox.2_Splice_Site_p.W9_splice|EIF4E3_uc011bgd.1_Splice_Site_p.W9_splice|EIF4E3_uc010hoc.2_Splice_Site_p.W9_splice	NM_001134651	NP_001128123	Q8N5X7	IF4E3_HUMAN	eukaryotic translation initiation factor 4E						regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity				0		Prostate(10;0.0166)		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)		TCCTCTTCCCTGGGCCAAAGA	0.438													G	71745673	T	G	71745673	5	3	158	1	0	0	0	0	0	0	1	0	5031	1594	55	5	347	5	EIF4E3	3	71745673	Splice_Site	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	730564	71745673	126276757	602	84383											
PDZRN3	23024	broad.mit.edu	37	chr3	73433841	73433841	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccgtgcagtcggccgaaaTgaaagactcgttgctgaagg	14	9	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:73433841T>C	uc003dpl.1	-	10	1972	c.1876A>G	c.(1876-1878)ATT>GTT	p.I626V	PDZRN3_uc011bgh.1_Missense_Mutation_p.I283V|PDZRN3_uc010hoe.1_Missense_Mutation_p.I324V|PDZRN3_uc011bgf.1_Missense_Mutation_p.I343V|PDZRN3_uc011bgg.1_Missense_Mutation_p.I346V	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	626							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCGGCCGAAATGAAAGACTCG	0.667													C	73433841	T	C	73433841	3	2	158	1	0	0	0	0	1	0	0	0	11709	1464	51	3	1328	3	PDZRN3	3	73433841	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1688168	73433841	124588589	603	84384											
CNTN3	5067	broad.mit.edu	37	chr3	74351871	74351871	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggtcagcagcagatgaaaCactgtccacccccgtttgca	10	13	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:74351871C>A	uc003dpm.1	-	13	1836	c.1756G>T	c.(1756-1758)GTT>TTT	p.V586F		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	586	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GCAGATGAAACACTGTCCACC	0.418													A	74351871	C	A	74351871	3	1	158	1	0	0	0	0	1	0	0	0	3642	478	17	5	1370	5	CNTN3	3	74351871	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	918030	74351871	123670559	604	84385											
CNTN3	5067	broad.mit.edu	37	chr3	74420514	74420514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactatcttcttcaacaaacGatgggtattcattgaagatc	7	8	4	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:74420514G>A	uc003dpm.1	-	5	571	c.491C>T	c.(490-492)TCG>TTG	p.S164L		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	164	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTCAACAAACGATGGGTATTC	0.403													A	74420514	G	A	74420514	3	1	158	1	0	0	0	0	1	0	0	0	3642	1059	37	1	2667	1	CNTN3	3	74420514	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	68643	74420514	123601916	605	84386											
CNTN3	5067	broad.mit.edu	37	chr3	74548856	74548856	+	Frame_Shift_Del	DEL	T	T	-													tgcttcacaatgcaaagttaTttttttatcttctgaaccaa							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:74548855_74548855AT>A	uc003dpm.1	-	1	217	c.137_137AT>T	c.(136-138)atafs	p.I46fs		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	46	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ATGCAAAGTTATTTTTTTATC	0.368													-	74548856	T	-	74548856	7	5	158	1	0	1	0	1	0	0	0	0	3642	1493	52	0	3034	0	CNTN3	3	74548856	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	128342	74548856	123473574	606	84387											
ROBO1	6091	broad.mit.edu	37	chr3	78988044	78988044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagggtgttcaacaatgCgaggtggaaaatcttcctga	12	7	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:78988044C>T	uc003dqe.2	-	4	414	c.206G>A	c.(205-207)CGC>CAC	p.R69H	ROBO1_uc003dqb.2_Missense_Mutation_p.R30H|ROBO1_uc003dqc.2_Missense_Mutation_p.R30H|ROBO1_uc003dqd.2_Missense_Mutation_p.R30H	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	69	Extracellular (Potential).|Ig-like C2-type 1.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTCAACAATGCGAGGTGGAAA	0.433													T	78988044	C	T	78988044	3	4	158	1	0	0	0	0	1	0	0	0	13513	768	27	1	4874	1	ROBO1	3	78988044	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	4439188	78988044	119034386	607	84388											
CGGBP1	8545	broad.mit.edu	37	chr3	88104748	88104748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcgagataggaaagcacGgactgctgggtgatcagcct	15	8	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:88104748G>A	uc003dqs.2	-	4	891	c.379C>T	c.(379-381)CGT>TGT	p.R127C	CGGBP1_uc003dqt.2_Missense_Mutation_p.R127C|CGGBP1_uc003dqu.2_Missense_Mutation_p.R127C	NM_001008390	NP_001008391	Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding				0		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		AGGAAAGCACGGACTGCTGGG	0.483													A	88104748	G	A	88104748	3	1	158	1	0	0	0	0	1	0	0	0	3302	1116	39	1	128	1	CGGBP1	3	88104748	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	9116704	88104748	109917682	608	84389											
ZNF654	55279	broad.mit.edu	37	chr3	88189731	88189732	+	In_Frame_Ins	INS	-	-	GTA													ccaaattctgaaaataattgINStagtagtagtgatatagtca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:88189730_88189731T>TGTA	uc003dqv.3	+	0	1469_1470	c.1270_1271T>TGTA	c.(1270-1272)tgt>TGTAt	p.C424C	CGGBP1_uc003dqu.3_Intron	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN	Homo sapiens zinc finger protein 654 (ZNF654), mRNA.	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TGAAAATAATTGTAGTAGTAGT	0.347													GTA	88189732	-	GTA	88189731	7	5	158	1	0	1	1	0	0	0	0	0	18064	1377	48	0	1273	0	ZNF654	3	88189731	In_Frame_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	84983	88189731	109832699	609	84390											
EPHA3	2042	broad.mit.edu	37	chr3	89521671	89521671	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcactaccttccgcacaacAggtgactggcttaatggtgt	9	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:89521671A>G	uc003dqy.2	+	16	2973	c.2748A>G	c.(2746-2748)ACA>ACG	p.T916T	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	916	Cytoplasmic (Potential).|SAM.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCCGCACAACAGGTGACTGGC	0.468										TSP Lung(6;0.00050)			G	89521671	A	G	89521671	2	3	158	1	0	0	0	0	0	0	0	1	5168	175	7	3		3	EPHA3	3	89521671	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1331940	89521671	108500759	610	84391											
DHFRL1	200895	broad.mit.edu	37	chr3	93779907	93779907	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atttctccaagtcaatttctGaaaaaaacgtgtcactttca	4	9	5	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:93779907G>A	uc003dri.2	-	2	615	c.449C>T	c.(448-450)TCA>TTA	p.S150L	DHFRL1_uc003drj.2_Missense_Mutation_p.S150L|NSUN3_uc003drk.2_5'Flank|NSUN3_uc003drl.1_5'Flank	NM_176815	NP_789785	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	150	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding				0						GTCAATTTCTGAAAAAAACGT	0.398													A	93779907	G	A	93779907	3	1	158	1	0	0	0	0	1	0	0	0	4482	1294	45	4	118	4	DHFRL1	3	93779907	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4258236	93779907	104242523	611	84392											
OR5AC2	81050	broad.mit.edu	37	chr3	97806905	97806906	+	Frame_Shift_Ins	INS	-	-	A													tatttacagcttgagaaataINSaaaaagtcatgcatgcattg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:97806904_97806905T>TA	uc011bgs.2	+	0	888_889	c.888_889T>TA	c.(886-891)aataaafs	p.N296fs		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						GCTTGAGAAATAAAAAAGTCAT	0.347													A	97806906	-	A	97806905	7	5	158	1	0	1	1	0	0	0	0	0	11141	363	13	0	891	0	OR5AC2	3	97806905	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	4026998	97806905	100215525	612	84393											
COL8A1	1295	broad.mit.edu	37	chr3	99514534	99514534	+	Frame_Shift_Del	DEL	C	C	-													tgggaattgatggcgtgaaaCccccccatgcctacggggct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:99514533_99514533AC>A	uc003dti.1	+	2	1919	c.1791_1791AC>A	c.(1789-1791)aaafs	p.K597fs	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Frame_Shift_Del_p.K596fs|COL8A1_uc003dth.1_Frame_Shift_Del_p.K596fs	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	596	Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ATGGCGTGAAACCCCCCCATG	0.612													-	99514534	C	-	99514534	7	5	158	1	0	1	0	1	0	0	0	0	3705	507	18	0	1795	0	COL8A1	3	99514534	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	1707629	99514534	98507896	613	84394											
COL8A1	1295	broad.mit.edu	37	chr3	99514882	99514882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctcaggcccggagacCgggtgttcctccagatgccc	13	15	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:99514882C>T	uc003dtg.1	+	5	2382	c.2137C>T	c.(2137-2139)CGG>TGG	p.R713W	COL8A1_uc003dth.1_Missense_Mutation_p.R713W|COL8A1_uc003dti.1_Missense_Mutation_p.R714W	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	713	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						GCCCGGAGACCGGGTGTTCCT	0.537													T	99514882	C	T	99514882	3	4	158	1	0	0	0	0	1	0	0	0	3705	643	23	1	2143	1	COL8A1	3	99514882	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	348	99514882	98507548	614	84395											
ABI3BP	25890	broad.mit.edu	37	chr3	100489671	100489671	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaccacagtgaggttggTgggtgggttctgtggtgggc	21	5	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:100489671T>C	uc003dun.2	-	29	2609	c.2524A>G	c.(2524-2526)ACC>GCC	p.T842A	ABI3BP_uc003duj.2_Missense_Mutation_p.T422A|ABI3BP_uc003duk.2_Missense_Mutation_p.T551A|ABI3BP_uc003dul.2_Missense_Mutation_p.T672A|ABI3BP_uc011bhd.1_Missense_Mutation_p.T796A|ABI3BP_uc003dum.2_Missense_Mutation_p.T253A	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	842	Fibronectin type-III 2.					extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						GTGAGGTTGGTGGGTGGGTTC	0.547													C	100489671	T	C	100489671	3	2	158	1	0	0	0	0	1	0	0	0	91	1696	59	3	731	3	ABI3BP	3	100489671	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	974789	100489671	97532759	615	84396											
ABI3BP	25890	broad.mit.edu	37	chr3	100569540	100569540	+	Frame_Shift_Del	DEL	T	T	-													ctgttcaagagttctagaagTtttaggtgggatagaatcca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:100569539_100569539GT>G	uc003dun.3	-	13	1350	c.1265_1265AC>C	c.(1264-1266)actfs	p.T422fs	ABI3BP_uc003duo.2_Frame_Shift_Del_p.T464fs	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	422	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGTTCTAGAAGTTTTAGGTGG	0.343													-	100569540	T	-	100569540	7	5	158	1	0	1	0	1	0	0	0	0	91	1725	60	0	2051	0	ABI3BP	3	100569540	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	79869	100569540	97452890	616	84397											
HHLA2	11148	broad.mit.edu	37	chr3	108074114	108074114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaagaaacagggtctttgGattctttttctattaacagc	9	6	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:108074114G>A	uc003dwy.3	+	5	738	c.571G>A	c.(571-573)GAT>AAT	p.D191N	HHLA2_uc011bhl.1_Missense_Mutation_p.D127N|HHLA2_uc010hpu.2_Missense_Mutation_p.D191N|HHLA2_uc003dwz.2_Missense_Mutation_p.D191N	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2 precursor	191	Ig-like C1-type.					integral to membrane				ovary(1)	1						AGGGTCTTTGGATTCTTTTTC	0.378													A	108074114	G	A	108074114	3	1	158	1	0	0	0	0	1	0	0	0	7095	1174	41	4	581	4	HHLA2	3	108074114	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	7504574	108074114	89948316	617	84398											
CD96	10225	broad.mit.edu	37	chr3	111297890	111297890	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaggataatggaactcAggaaacacttatctcccaaa	8	10	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:111297890A>G	uc003dxw.2	+	5	778	c.608A>G	c.(607-609)CAG>CGG	p.Q203R	CD96_uc003dxv.2_Missense_Mutation_p.Q187R|CD96_uc003dxx.2_Missense_Mutation_p.Q187R|CD96_uc010hpy.1_Missense_Mutation_p.Q187R	NM_198196	NP_937839	P40200	TACT_HUMAN	CD96 antigen isoform 1 precursor	203	Extracellular (Potential).|Ig-like V-type 2.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				skin(2)|central_nervous_system(1)	3						AATGGAACTCAGGAAACACTT	0.274									Opitz_Trigonocephaly_syndrome				G	111297890	A	G	111297890	3	3	158	1	0	0	0	0	1	0	0	0	3048	188	7	3	626	3	CD96	3	111297890	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	3223776	111297890	86724540	618	84399											
SLC35A5	55032	broad.mit.edu	37	chr3	112299856	112299856	+	Frame_Shift_Del	DEL	T	T	-													atcagattaagaactgtggaTttttttatggccacagtgca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:112299855_112299855AT>A	uc003dze.3	+	5	1136	c.891_891AT>A	c.(889-891)ggafs	p.G297fs		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	Homo sapiens solute carrier family 35, member A5 (SLC35A5), mRNA.	297						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						AGAACTGTGGATTTTTTTATG	0.413													-	112299856	T	-	112299856	7	5	158	1	0	1	0	1	0	0	0	0	14574	1493	52	0	910	0	SLC35A5	3	112299856	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	1001966	112299856	85722574	619	84400											
CCDC80	151887	broad.mit.edu	37	chr3	112358121	112358121	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctagggtccaggggctgcTccaggatctggccctcgctg	16	13	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:112358121T>C	uc003dzf.2	-	2	850	c.632A>G	c.(631-633)GAG>GGG	p.E211G	CCDC80_uc011bhv.1_Missense_Mutation_p.E211G|CCDC80_uc003dzg.2_Missense_Mutation_p.E211G|CCDC80_uc003dzh.1_Missense_Mutation_p.E211G	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	211										ovary(2)	2						CAGGGGCTGCTCCAGGATCTG	0.587													C	112358121	T	C	112358121	3	2	158	1	0	0	0	0	1	0	0	0	2854	1551	54	3	2248	3	CCDC80	3	112358121	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	58265	112358121	85664309	620	84401											
WDR52	55779	broad.mit.edu	37	chr3	113115474	113115474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatccaaaattttcttcCgtcccgcaaaaatcgtgagc	6	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:113115474C>T	uc003eae.1	-	14	1716	c.1670G>A	c.(1669-1671)CGG>CAG	p.R557Q		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	557										central_nervous_system(1)	1						AATTTTCTTCCGTCCCGCAAA	0.388													T	113115474	C	T	113115474	3	4	158	1	0	0	0	0	1	0	0	0	17301	652	23	1	3997	1	WDR52	3	113115474	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	757353	113115474	84906956	621	84402											
ZDHHC23	254887	broad.mit.edu	37	chr3	113675184	113675184	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatttctctatgctgttttgAggataaatagctgcgttgga	10	5	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:113675184A>G	uc003eau.2	+	4	1172	c.873_splice	c.e4-2	p.W291_splice	ZDHHC23_uc003eav.2_Splice_Site_p.W285_splice|ZDHHC23_uc003eaw.1_5'Flank	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC domain containing 23							integral to membrane	acyltransferase activity|zinc ion binding			ovary(2)	2						TGCTGTTTTGAGGATAAATAG	0.313													G	113675184	A	G	113675184	5	3	158	1	0	0	0	0	0	0	1	0	17611	318	11	3	881	3	ZDHHC23	3	113675184	Splice_Site	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	559710	113675184	84347246	622	84403											
KIAA1407	57577	broad.mit.edu	37	chr3	113737606	113737606	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgtagtctctccaggccCgcaggaccttcagctgaatc	10	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:113737606C>A	uc003eax.2	-	8	1229	c.1082G>T	c.(1081-1083)CGG>CTG	p.R361L	KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.R339L|KIAA1407_uc011bip.1_Missense_Mutation_p.R348L	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	361										ovary(2)	2						TCTCCAGGCCCGCAGGACCTT	0.478													A	113737606	C	A	113737606	3	1	158	1	0	0	0	0	1	0	0	0	8229	652	23	5	1768	5	KIAA1407	3	113737606	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	62422	113737606	84284824	623	84404											
ZBTB20	26137	broad.mit.edu	37	chr3	114070045	114070045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctccatctgctgcgagcGctcatggatgcgtgtgatcc	13	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:114070045G>A	uc003ebi.2	-	4	1060	c.880C>T	c.(880-882)CGC>TGC	p.R294C	ZBTB20_uc003ebj.2_Missense_Mutation_p.R221C|ZBTB20_uc010hqp.2_Missense_Mutation_p.R221C|ZBTB20_uc003ebk.2_Missense_Mutation_p.R221C|ZBTB20_uc003ebl.2_Missense_Mutation_p.R221C|ZBTB20_uc003ebm.2_Missense_Mutation_p.R221C|ZBTB20_uc003ebn.2_Missense_Mutation_p.R221C|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGCTGCGAGCGCTCATGGATG	0.652													A	114070045	G	A	114070045	3	1	158	1	0	0	0	0	1	0	0	0	17526	1087	38	1	1353	1	ZBTB20	3	114070045	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	332439	114070045	83952385	624	84405											
ADPRH	141	broad.mit.edu	37	chr3	119306493	119306493	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccatgattgcctacgatgCtgttcttgctgcaggagact	10	12	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:119306493C>A	uc003ecs.2	+	5	1140	c.842C>A	c.(841-843)GCT>GAT	p.A281D	ADPRH_uc010hqv.2_Missense_Mutation_p.A281D|ADPRH_uc011bjb.1_Missense_Mutation_p.A174D|ADPRH_uc003ect.2_Missense_Mutation_p.A281D	NM_001125	NP_001116	P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	281					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			ovary(1)	1		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GCCTACGATGCTGTTCTTGCT	0.572													A	119306493	C	A	119306493	3	1	158	1	0	0	0	0	1	0	0	0	331	797	28	5	852	5	ADPRH	3	119306493	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	5236448	119306493	78715937	625	84406											
HCLS1	3059	broad.mit.edu	37	chr3	121363692	121363692	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgtccctctcaactccGtacttgcccccaaagccttt	5	19	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:121363692G>A	uc003eeh.3	-	5	497	c.372C>T	c.(370-372)TAC>TAT	p.Y124Y	HCLS1_uc011bjj.1_Silent_p.Y124Y|HCLS1_uc011bjk.1_RNA|HCLS1_uc011bjl.1_Silent_p.Y124Y	NM_005335	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	124	Cortactin 2.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(114;0.0912)		TCTCAACTCCGTACTTGCCCC	0.547													A	121363692	G	A	121363692	2	1	158	1	0	0	0	0	0	0	0	1	6995	1140	40	1		1	HCLS1	3	121363692	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2057199	121363692	76658738	626	84407											
SEMA5B	54437	broad.mit.edu	37	chr3	122667488	122667488	+	Frame_Shift_Del	DEL	G	G	-													cagcaacagcgagacagccaGggggcctgcaagcaccatga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:122667487_122667487AG>A	uc003efz.1	-	2	498	c.194_194CT>T	c.(193-195)ctgfs	p.L65fs	SEMA5B_uc011bju.1_Frame_Shift_Del_p.L7fs|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Frame_Shift_Del_p.L65fs|SEMA5B_uc010hro.1_Frame_Shift_Del_p.L7fs|SEMA5B_uc010hrp.1_Non-coding_Transcript	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	65					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CGAGACAGCCAGGGGGCCTGC	0.622													-	122667488	G	-	122667488	7	5	158	1	0	1	0	1	0	0	0	0	14038	991	35	0	3346	0	SEMA5B	3	122667488	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	1303796	122667488	75354942	627	84408											
MYLK	4638	broad.mit.edu	37	chr3	123359180	123359180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagcttgatcctggtgccCgtcttgttgacacacatgat	10	10	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:123359180C>T	uc003ego.2	-	28	5073	c.4791G>A	c.(4789-4791)ACG>ACA	p.T1597T	MYLK_uc010hrr.2_Silent_p.T32T|MYLK_uc011bjv.1_Silent_p.T397T|MYLK_uc011bjw.1_Silent_p.T1597T|MYLK_uc003egp.2_Silent_p.T1528T|MYLK_uc003egq.2_Silent_p.T1597T|MYLK_uc003egr.2_Silent_p.T1528T|MYLK_uc003egs.2_Silent_p.T1421T	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1597	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCCTGGTGCCCGTCTTGTTGA	0.562													T	123359180	C	T	123359180	2	4	158	1	0	0	0	0	0	0	0	1	10056	639	23	1		1	MYLK	3	123359180	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	691692	123359180	74663250	628	84409											
KALRN	8997	broad.mit.edu	37	chr3	124017664	124017664	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactggataagccacaacaaGgagttattcctccagagcca	9	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:124017664G>T	uc003ehg.2	+	6	1117	c.990G>T	c.(988-990)AAG>AAT	p.K330N	KALRN_uc010hrv.1_Missense_Mutation_p.K330N|KALRN_uc003ehf.1_Missense_Mutation_p.K330N|KALRN_uc011bjy.1_Missense_Mutation_p.K330N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	330	Spectrin 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GCCACAACAAGGAGTTATTCC	0.493													T	124017664	G	T	124017664	3	4	158	1	0	0	0	0	1	0	0	0	7975	991	35	5	1012	5	KALRN	3	124017664	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	658484	124017664	74004766	629	84410											
KALRN	8997	broad.mit.edu	37	chr3	124352739	124352740	+	Frame_Shift_Del	DEL	CA	CA	-													agatgagccggatgaagagtCacacacacccctcccaccac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:124352739_124352740delCA	uc003ehg.2	+	36	5631_5632	c.5504_5505delCA	c.(5503-5505)TCAfs	p.S1835fs	KALRN_uc003ehi.2_Frame_Shift_Del_p.S208fs|KALRN_uc003ehk.2_Frame_Shift_Del_p.S138fs|KALRN_uc003ehj.2_Frame_Shift_Del_p.S138fs	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1835					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GATGAAGAGTCACACACACCCC	0.455													-	124352740	CA	-	124352739	7	5	158	1	0	1	0	1	0	0	0	0	7975	838	29	0	5802	0	KALRN	3	124352739	Frame_Shift_Del	DEL	CA	TCGA-CD-A4MG-01A-11D-A25D-08	335075	124352739	73669691	630	84411											
KALRN	8997	broad.mit.edu	37	chr3	124438037	124438037	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacatgtatcaacgtatgcaGggtggatttcagcttccccc	10	11	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:124438037G>T	uc003ehg.2	+	60	8808	c.8681G>T	c.(8680-8682)AGG>ATG	p.R2894M	KALRN_uc003ehk.2_Missense_Mutation_p.R1197M	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2893	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						AACGTATGCAGGGTGGATTTC	0.498													T	124438037	G	T	124438037	3	4	158	1	0	0	0	0	1	0	0	0	7975	1000	35	5	9075	5	KALRN	3	124438037	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	85298	124438037	73584393	631	84412											
MUC13	56667	broad.mit.edu	37	chr3	124632523	124632523	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccataataatcacaccgaaGggtcactgagaagcacaaat	8	10	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:124632523G>T	uc003ehq.1	-	7	991	c.967C>A	c.(967-969)CTT>ATT	p.L323I		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, epithelial transmembrane	323	EGF-like 2.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane					0						TCACACCGAAGGGTCACTGAG	0.413													T	124632523	G	T	124632523	3	4	158	1	0	0	0	0	1	0	0	0	9971	1000	35	5	588	5	MUC13	3	124632523	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	194486	124632523	73389907	632	84413											
KLF15	28999	broad.mit.edu	37	chr3	126070712	126070712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcctggccaggtgcaggCgaagggcttctcacccgtgt	15	13	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:126070712C>T	uc011bkk.1	-	2	1236	c.1054G>A	c.(1054-1056)GCC>ACC	p.A352T		NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	352	C2H2-type 2.					nucleus	DNA binding|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(114;0.147)		CAGGTGCAGGCGAAGGGCTTC	0.592													T	126070712	C	T	126070712	3	4	158	1	0	0	0	0	1	0	0	0	8343	768	27	1	204	1	KLF15	3	126070712	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1438189	126070712	71951718	633	84414											
PLXNA1	5361	broad.mit.edu	37	chr3	126736666	126736666	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcggctccacaccctgTaccctcaccgtgtcggagac	8	18	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:126736666T>C	uc003ejg.2	+	18	3526	c.3522T>C	c.(3520-3522)TGT>TGC	p.C1174C		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1197	Extracellular (Potential).|IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CCACACCCTGTACCCTCACCG	0.652													C	126736666	T	C	126736666	2	2	158	1	0	0	0	0	0	0	0	1	12119	1644	57	3		3	PLXNA1	3	126736666	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	665954	126736666	71285764	634	84415											
MCM2	4171	broad.mit.edu	37	chr3	127338055	127338055	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccaaggagagggtccacccGaagctcaaccagatggacca	12	13	1	2	rs144817363		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:127338055G>A	uc003ejp.2	+	13	2256	c.2199G>A	c.(2197-2199)CCG>CCA	p.P733P	MCM2_uc011bkm.1_Silent_p.P603P|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Silent_p.P686P	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	733					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						GGGTCCACCCGAAGCTCAACC	0.597													A	127338055	G	A	127338055	2	1	158	1	0	0	0	0	0	0	0	1	9386	1045	37	1		1	MCM2	3	127338055	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	601389	127338055	70684375	635	84416											
RAB43	339122	broad.mit.edu	37	chr3	128840142	128840142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccaccttgacccgcttgCcctggatctccagcgtcttc	7	19	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:128840142C>T	uc003eln.1	-	1	478	c.191G>A	c.(190-192)GGC>GAC	p.G64D	RAB43_uc003elo.1_Intron|RAB43_uc010hsy.1_Missense_Mutation_p.G64D	NM_198490	NP_940892	Q86YS6	RAB43_HUMAN	RAB43 protein	64					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			lung(1)	1						GACCCGCTTGCCCTGGATCTC	0.716													T	128840142	C	T	128840142	3	4	158	1	0	0	0	0	1	0	0	0	12945	739	26	2	459	2	RAB43	3	128840142	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1502087	128840142	69182288	636	84417											
IFT122	55764	broad.mit.edu	37	chr3	129214425	129214425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcttgaaatgtacaccgAcctctgcatgtttgagtatg	10	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:129214425A>G	uc003emm.2	+	18	2389	c.2183A>G	c.(2182-2184)GAC>GGC	p.D728G	IFT122_uc003eml.2_Missense_Mutation_p.D779G|IFT122_uc003emn.2_Missense_Mutation_p.D669G|IFT122_uc003emo.2_Missense_Mutation_p.D617G|IFT122_uc003emp.2_Missense_Mutation_p.D578G|IFT122_uc010htc.2_Missense_Mutation_p.D720G|IFT122_uc011bky.1_Missense_Mutation_p.D519G|IFT122_uc003emq.2_Missense_Mutation_p.D568G|IFT122_uc003emr.2_Missense_Mutation_p.D480G|IFT122_uc011bla.1_Missense_Mutation_p.D501G|IFT122_uc010hte.2_Intron|IFT122_uc003ems.2_Missense_Mutation_p.D109G|IFT122_uc011bkx.1_Missense_Mutation_p.D568G|IFT122_uc010htd.1_Missense_Mutation_p.D207G	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	728					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						ATGTACACCGACCTCTGCATG	0.532													G	129214425	A	G	129214425	3	3	158	1	0	0	0	0	1	0	0	0	7555	275	10	3	2410	3	IFT122	3	129214425	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	374283	129214425	68808005	637	84418											
ATP2C1	27032	broad.mit.edu	37	chr3	130649322	130649322	+	Frame_Shift_Del	DEL	A	A	-													atgattcctgtattgacatcAaaaaaagcaagtgaattacc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:130649321_130649321CA>C	uc011bli.2	+	1	466	c.170_170CA>C	c.(169-171)tcafs	p.S57fs	ATP2C1_uc011blg.2_Frame_Shift_Del_p.S57fs|ATP2C1_uc011blh.2_Frame_Shift_Del_p.S57fs|ATP2C1_uc003enk.3_Frame_Shift_Del_p.S7fs|ATP2C1_uc003enl.3_Frame_Shift_Del_p.S23fs|ATP2C1_uc003enm.3_Frame_Shift_Del_p.S23fs|ATP2C1_uc003enn.3_Frame_Shift_Del_p.S7fs|ATP2C1_uc003eno.3_Frame_Shift_Del_p.S23fs|ATP2C1_uc003enp.3_Frame_Shift_Del_p.S23fs|ATP2C1_uc003ent.3_Frame_Shift_Del_p.S23fs|ATP2C1_uc003ens.3_Frame_Shift_Del_p.S23fs	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	23					ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GTATTGACATCAAAAAAAGCA	0.363									Hailey-Hailey disease				-	130649322	A	-	130649322	7	5	158	1	0	1	0	1	0	0	0	0	1143	117	5	0	75	0	ATP2C1	3	130649322	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	1434897	130649322	67373108	638	84419											
DNAJC13	23317	broad.mit.edu	37	chr3	132221232	132221232	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggctggaattttgtggTatctccttggttttctgttt	10	6	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:132221232T>C	uc003eor.2	+	40	4701	c.4636T>C	c.(4636-4638)TAT>CAT	p.Y1546H		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1546							heat shock protein binding			ovary(1)|breast(1)	2						AATTTTGTGGTATCTCCTTGG	0.413													C	132221232	T	C	132221232	3	2	158	1	0	0	0	0	1	0	0	0	4632	1638	57	3	4790	3	DNAJC13	3	132221232	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1571910	132221232	65801198	639	84420											
RAB6B	51560	broad.mit.edu	37	chr3	133553465	133553465	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccattccgggtagagcCgacgccacacgtcgaaaaag	10	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:133553465C>T	uc003epy.2	-	7	897	c.516G>A	c.(514-516)TCG>TCA	p.S172S	RAB6B_uc011blu.1_Silent_p.S159S	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	172					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			pancreas(1)	1						CGGGTAGAGCCGACGCCACAC	0.502													T	133553465	C	T	133553465	2	4	158	1	0	0	0	0	0	0	0	1	12952	639	23	1		1	RAB6B	3	133553465	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1332233	133553465	64468965	640	84421											
SLCO2A1	6578	broad.mit.edu	37	chr3	133692546	133692546	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggtagggctcggagaggaAgtgtgggagggtgaggatga	22	3	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:133692546A>G	uc003eqa.3	-	3	632	c.358T>C	c.(358-360)TTC>CTC	p.F120L	SLCO2A1_uc003eqb.3_Missense_Mutation_p.F120L|SLCO2A1_uc011blv.1_Missense_Mutation_p.F120L|SLCO2A1_uc010htw.1_5'UTR	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	120	Helical; Name=3; (Potential).				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1						TCGGAGAGGAAGTGTGGGAGG	0.572													G	133692546	A	G	133692546	3	3	158	1	0	0	0	0	1	0	0	0	14726	72	3	3	1621	3	SLCO2A1	3	133692546	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	139081	133692546	64329884	641	84422											
AMOTL2	51421	broad.mit.edu	37	chr3	134085137	134085137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctcacctctaagatcccGgttgaagtcttgcagcctcc	8	15	3	2	rs144219366		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:134085137G>A	uc003eqf.2	-	4	1465	c.1348C>T	c.(1348-1350)CGG>TGG	p.R450W	AMOTL2_uc003eqg.1_Missense_Mutation_p.R392W|AMOTL2_uc003eqh.1_Missense_Mutation_p.R392W|AMOTL2_uc003eqe.1_Missense_Mutation_p.R17W	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	392	Potential.									large_intestine(1)	1						CTAAGATCCCGGTTGAAGTCT	0.507													A	134085137	G	A	134085137	3	1	158	1	0	0	0	0	1	0	0	0	584	1115	39	1	1196	1	AMOTL2	3	134085137	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	392591	134085137	63937293	642	84423											
EPHB1	2047	broad.mit.edu	37	chr3	134670334	134670334	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttcatcaaccggcggggggCccatcgcatctacacagaga	11	14	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:134670334C>G	uc003eqt.2	+	3	465	c.245C>G	c.(244-246)GCC>GGC	p.A82G	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Missense_Mutation_p.A82G	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	82	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						CGGCGGGGGGCCCATCGCATC	0.532													G	134670334	C	G	134670334	3	3	158	1	0	0	0	0	1	0	0	0	5174	739	26	5	255	5	EPHB1	3	134670334	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	585197	134670334	63352096	643	84424											
MSL2	55167	broad.mit.edu	37	chr3	135870112	135870112	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgctggtactagcgttAcgcacagcaatgctagtcac	11	11	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:135870112A>G	uc003eqx.1	-	2	2344	c.1611T>C	c.(1609-1611)CGT>CGC	p.R537R	MSL2_uc011bmb.1_Silent_p.R463R	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	537					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						TACTAGCGTTACGCACAGCAA	0.488													G	135870112	A	G	135870112	2	3	158	1	0	0	0	0	0	0	0	1	9878	378	14	3		3	MSL2	3	135870112	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1199778	135870112	62152318	644	84425											
PIK3CB	5291	broad.mit.edu	37	chr3	138433529	138433529	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggttttacacaggagctcAgtaccatgaaaaagaccagc	9	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:138433529A>G	uc011bmq.1	-	7	1083	c.1083T>C	c.(1081-1083)ACT>ACC	p.T361T	PIK3CB_uc011bmo.1_5'UTR|PIK3CB_uc011bmp.1_5'UTR	NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	361	C2 PI3K-type.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						ACAGGAGCTCAGTACCATGAA	0.368													G	138433529	A	G	138433529	2	3	158	1	0	0	0	0	0	0	0	1	11914	175	7	3		3	PIK3CB	3	138433529	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	2563417	138433529	59588901	645	84426											
PRR23B	389151	broad.mit.edu	37	chr3	138739078	138739078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgatctctgggacagatgcGcagaattccagctcgacgac	12	12	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:138739078G>A	uc003esy.1	-	1	691	c.426C>T	c.(424-426)TGC>TGT	p.C142C		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	proline rich 23B	142										breast(1)	1						GGACAGATGCGCAGAATTCCA	0.662													A	138739078	G	A	138739078	2	1	158	1	0	0	0	0	0	0	0	1	12595	1079	38	1		1	PRR23B	3	138739078	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	305549	138739078	59283352	646	84427											
COPB2	9276	broad.mit.edu	37	chr3	139081286	139081286	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggtatgcaatttttaacTctccaagctgaagagcaagc	8	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:139081286T>C	uc003etf.3	-	16	2088	c.1958A>G	c.(1957-1959)GAG>GGG	p.E653G	COPB2_uc011bmv.1_Missense_Mutation_p.E624G|COPB2_uc010hui.2_Missense_Mutation_p.E624G	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	653					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2						AATTTTTAACTCTCCAAGCTG	0.363													C	139081286	T	C	139081286	3	2	158	1	0	0	0	0	1	0	0	0	3729	1551	54	3	790	3	COPB2	3	139081286	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	342208	139081286	58941144	647	84428											
CLSTN2	64084	broad.mit.edu	37	chr3	140281016	140281016	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttagaggaaatgcttcataActtagatttctgtgacattt	7	6	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:140281016A>G	uc003etn.2	+	13	2268	c.2078A>G	c.(2077-2079)AAC>AGC	p.N693S		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	693	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						ATGCTTCATAACTTAGATTTC	0.488										HNSCC(16;0.037)			G	140281016	A	G	140281016	3	3	158	1	0	0	0	0	1	0	0	0	3562	43	2	3	2128	3	CLSTN2	3	140281016	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1199730	140281016	57741414	648	84429											
CLSTN2	64084	broad.mit.edu	37	chr3	140281769	140281769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgctcagaactcaatgggCgctacactagcaatgagttc	10	10	2	2	rs112029581	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:140281769C>T	uc003etn.2	+	14	2519	c.2329C>T	c.(2329-2331)CGC>TGC	p.R777C		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	777	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						ACTCAATGGGCGCTACACTAG	0.537										HNSCC(16;0.037)			T	140281769	C	T	140281769	3	4	158	1	0	0	0	0	1	0	0	0	3562	768	27	1	2383	1	CLSTN2	3	140281769	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	753	140281769	57740661	649	84430											
TRIM42	287015	broad.mit.edu	37	chr3	140401956	140401956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctcatcgacgcctgctccGagagggccgcctcactcttc	10	18	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:140401956G>A	uc003eto.1	+	2	1185	c.994G>A	c.(994-996)GAG>AAG	p.E332K		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	332						intracellular	zinc ion binding			lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						CGCCTGCTCCGAGAGGGCCGC	0.537													A	140401956	G	A	140401956	3	1	158	1	0	0	0	0	1	0	0	0	16514	1059	37	1	1000	1	TRIM42	3	140401956	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	120187	140401956	57620474	650	84431											
PCOLCE2	26577	broad.mit.edu	37	chr3	142561847	142561847	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccagttgggggttttaaaAgagccggaaggtctgtcaag	16	6	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:142561847A>G	uc003evd.2	-	4	688	c.492T>C	c.(490-492)TCT>TCC	p.S164S		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	164	CUB 2.					extracellular region	collagen binding|heparin binding|peptidase activator activity	p.S164Y(1)		ovary(2)|skin(1)	3						GGGTTTTAAAAGAGCCGGAAG	0.473													G	142561847	A	G	142561847	2	3	158	1	0	0	0	0	0	0	0	1	11595	59	3	3		3	PCOLCE2	3	142561847	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	2159891	142561847	55460583	651	84432											
CHST2	9435	broad.mit.edu	37	chr3	142840157	142840157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggggacaagcggcagctgGtgtacgtgttcaccacgtgg	16	10	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:142840157G>A	uc003evm.2	+	2	1388	c.499G>A	c.(499-501)GTG>ATG	p.V167M		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	167	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3						GCGGCAGCTGGTGTACGTGTT	0.667													A	142840157	G	A	142840157	3	1	158	1	0	0	0	0	1	0	0	0	3404	1261	44	4	501	4	CHST2	3	142840157	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	278310	142840157	55182273	652	84433											
PLOD2	5352	broad.mit.edu	37	chr3	145794671	145794671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgtctattagaaatgtaCataaatacaccctatatgcc	4	9	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:145794671C>T	uc003evs.1	-	14	2018	c.1512G>A	c.(1510-1512)ATG>ATA	p.M504I	PLOD2_uc003evq.1_Missense_Mutation_p.M185I|PLOD2_uc011bnm.1_Missense_Mutation_p.M470I|PLOD2_uc003evr.1_Missense_Mutation_p.M525I	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	504					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)	TAGAAATGTACATAAATACAC	0.284													T	145794671	C	T	145794671	3	4	158	1	0	0	0	0	1	0	0	0	12102	478	17	4	725	4	PLOD2	3	145794671	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2954514	145794671	52227759	653	84434											
PLOD2	5352	broad.mit.edu	37	chr3	145795694	145795694	+	Frame_Shift_Del	DEL	T	T	-													gtttccggagtaggggagtcTttttccctttgtaaagtcta							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:145795693_145795693CT>C	uc003evr.1	-	13	2025	c.1519_1519AG>G	c.(1519-1521)gacfs	p.D507fs	PLOD2_uc003evq.1_Frame_Shift_Del_p.D167fs|PLOD2_uc011bnm.1_Frame_Shift_Del_p.D452fs|PLOD2_uc003evs.1_Intron	NM_182943	NP_891988	O00469	PLOD2_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (PLOD2), transcript variant 1, mRNA.	500					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	GTAGGGGAGTCTTTTTCCCTT	0.333													-	145795694	T	-	145795694	7	5	158	1	0	1	0	1	0	0	0	0	12102	1606	56	0	786	0	PLOD2	3	145795694	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	1023	145795694	52226736	654	84435											
ZIC1	7545	broad.mit.edu	37	chr3	147128521	147128521	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acgtgaacatggccgcgcatCacggcgccggcgccttcttc	12	16	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:147128521C>A	uc003ewe.2	+	1	1341	c.622C>A	c.(622-624)CAC>AAC	p.H208N		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	208					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GGCCGCGCATCACGGCGCCGG	0.642													A	147128521	C	A	147128521	3	1	158	1	0	0	0	0	1	0	0	0	17675	826	29	5	624	5	ZIC1	3	147128521	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1332827	147128521	50893909	655	84436											
GYG1	2992	broad.mit.edu	37	chr3	148744276	148744276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacactggctttctcttgtgGcttctgtagaaaggtatgca	10	8	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:148744276G>A	uc003ewn.2	+	7	919	c.866G>A	c.(865-867)GGC>GAC	p.G289D	GYG1_uc003ewo.2_Intron|GYG1_uc003ewp.2_Intron	NM_004130	NP_004121	P46976	GLYG_HUMAN	glycogenin 1	289					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTCTCTTGTGGCTTCTGTAGA	0.373													A	148744276	G	A	148744276	3	1	158	1	0	0	0	0	1	0	0	0	6905	1203	42	2	892	2	GYG1	3	148744276	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1615755	148744276	49278154	656	84437											
RNF13	11342	broad.mit.edu	37	chr3	149638970	149638970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctagaagaaacagacttcGtaaagatcaacttaagaaac	7	7	1	5	rs146279690		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:149638970G>A	uc003exn.3	+	9	1440	c.656G>A	c.(655-657)CGT>CAT	p.R219H	RNF13_uc003exp.3_Missense_Mutation_p.R219H|RNF13_uc010hvh.2_Missense_Mutation_p.R100H	NM_007282	NP_009213	O43567	RNF13_HUMAN	ring finger protein 13	219	Cytoplasmic (Potential).				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AACAGACTTCGTAAAGATCAA	0.299													A	149638970	G	A	149638970	3	1	158	1	0	0	0	0	1	0	0	0	13437	1145	40	1	682	1	RNF13	3	149638970	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	894694	149638970	48383460	657	84438											
MED12L	116931	broad.mit.edu	37	chr3	151112591	151112591	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagttgatacagatgaAgcttctgcagcagcagcagc	12	10	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:151112591A>G	uc003eyp.2	+	37	5689	c.5651A>G	c.(5650-5652)AAG>AGG	p.K1884R	MED12L_uc011bnz.1_Missense_Mutation_p.K1744R	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1884	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATACAGATGAAGCTTCTGCAG	0.537													G	151112591	A	G	151112591	3	3	158	1	0	0	0	0	1	0	0	0	9429	72	3	3	5797	3	MED12L	3	151112591	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1473621	151112591	46909839	658	84439											
IGSF10	285313	broad.mit.edu	37	chr3	151163551	151163551	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgaatgaaaactgattgtGcttgaaatcccagttgtgtt	9	6	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:151163551G>T	uc011bod.1	-	4	4218	c.4218C>A	c.(4216-4218)AGC>AGA	p.S1406R		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1406					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AACTGATTGTGCTTGAAATCC	0.428													T	151163551	G	T	151163551	3	4	158	1	0	0	0	0	1	0	0	0	7597	1310	46	5	3713	5	IGSF10	3	151163551	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	50960	151163551	46858879	659	84440											
MBNL1	4154	broad.mit.edu	37	chr3	152150657	152150657	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatccgggtgtccctgtacCtgcagctgctgcagctgctg	13	13	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:152150657C>A	uc003ezm.2	+	3	1286	c.497C>A	c.(496-498)CCT>CAT	p.P166H	MBNL1_uc003ezh.2_Missense_Mutation_p.P166H|MBNL1_uc003ezi.2_Missense_Mutation_p.P166H|MBNL1_uc003ezj.2_Missense_Mutation_p.P109H|MBNL1_uc003ezl.2_Missense_Mutation_p.P166H|MBNL1_uc003ezp.2_Missense_Mutation_p.P166H|MBNL1_uc003ezn.2_Intron|MBNL1_uc003ezo.2_Intron|MBNL1_uc010hvp.2_Missense_Mutation_p.P74H	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	muscleblind-like 1 isoform c	166					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GTCCCTGTACCTGCAGCTGCT	0.478													A	152150657	C	A	152150657	3	1	158	1	0	0	0	0	1	0	0	0	9353	681	24	5	507	5	MBNL1	3	152150657	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	987106	152150657	45871773	660	84441											
MBNL1	4154	broad.mit.edu	37	chr3	152163159	152163159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacagcacaatgattgacaCcaatgacaacacagtcactg	7	11	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:152163159C>T	uc003ezm.2	+	4	1427	c.638C>T	c.(637-639)ACC>ATC	p.T213I	MBNL1_uc003ezh.2_Missense_Mutation_p.T213I|MBNL1_uc003ezi.2_Missense_Mutation_p.T213I|MBNL1_uc003ezj.2_Missense_Mutation_p.T156I|MBNL1_uc003ezl.2_Missense_Mutation_p.T213I|MBNL1_uc003ezp.2_Missense_Mutation_p.T213I|MBNL1_uc003ezn.2_Missense_Mutation_p.T145I|MBNL1_uc003ezo.2_Missense_Mutation_p.T145I|MBNL1_uc010hvp.2_Missense_Mutation_p.T121I	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	muscleblind-like 1 isoform c	213					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATGATTGACACCAATGACAAC	0.458													T	152163159	C	T	152163159	3	4	158	1	0	0	0	0	1	0	0	0	9353	507	18	4	652	4	MBNL1	3	152163159	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	12502	152163159	45859271	661	84442											
GMPS	8833	broad.mit.edu	37	chr3	155628964	155628964	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgctaaatcgtgctttgaAccaagaacaagtcattgctg	8	8	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:155628964A>G	uc003faq.2	+	7	1117	c.782A>G	c.(781-783)AAC>AGC	p.N261S	GMPS_uc011bom.1_Missense_Mutation_p.N162S	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	261					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CGTGCTTTGAACCAAGAACAA	0.403			T	MLL	AML								G	155628964	A	G	155628964	3	3	158	1	0	0	0	0	1	0	0	0	6498	43	2	3	808	3	GMPS	3	155628964	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	3465805	155628964	42393466	662	84443											
TIPARP	25976	broad.mit.edu	37	chr3	156422795	156422795	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcctggcagtgtcaccagtGacctttatgactcttgtgtg	10	10	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:156422795G>A	uc003fav.2	+	6	2097	c.1849G>A	c.(1849-1851)GAC>AAC	p.D617N	TIPARP_uc003faw.2_Missense_Mutation_p.D617N	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	617	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|breast(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			tgtcaccagtgacctttatga	0.294													A	156422795	G	A	156422795	3	1	158	1	0	0	0	0	1	0	0	0	15921	1290	45	4	1867	4	TIPARP	3	156422795	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	793831	156422795	41599635	663	84444											
LEKR1	389170	broad.mit.edu	37	chr3	156763369	156763369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatccaaattcccaacctgCgcggggtgtcaaaacccacc	8	15	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:156763369C>T	uc003fba.1	+	14	2332	c.997C>T	c.(997-999)CGC>TGC	p.R333C		NM_001004316	NP_001004316	Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	Error:Variant_position_missing_in_D3DNK7_after_alignment											0			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCCCAACCTGCGCGGGGTGTC	0.552													T	156763369	C	T	156763369	3	4	158	1	0	0	0	0	1	0	0	0	8717	768	27	1	1955	1	LEKR1	3	156763369	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	340574	156763369	41259061	664	84445											
SCHIP1	29970	broad.mit.edu	37	chr3	159604040	159604040	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatatgctttgtcaacgacaGtggcagtgataaggacagtg	13	6	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:159604040G>T	uc003fcs.1	+	4	989	c.923G>T	c.(922-924)AGT>ATT	p.S308I	SCHIP1_uc003fcq.1_Missense_Mutation_p.S384I|SCHIP1_uc003fcr.1_Missense_Mutation_p.S297I|SCHIP1_uc003fct.1_Missense_Mutation_p.S295I|SCHIP1_uc010hvz.1_Missense_Mutation_p.S268I|SCHIP1_uc003fcu.1_Missense_Mutation_p.S65I|SCHIP1_uc003fcv.1_Missense_Mutation_p.S81I	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	schwannomin interacting protein 1	308						cytoplasm	identical protein binding|protein binding			ovary(1)|central_nervous_system(1)	2			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			GTCAACGACAGTGGCAGTGAT	0.478													T	159604040	G	T	159604040	3	4	158	1	0	0	0	0	1	0	0	0	13904	1029	36	5	937	5	SCHIP1	3	159604040	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2840671	159604040	38418390	665	84446											
TRIM59	286827	broad.mit.edu	37	chr3	160156198	160156198	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagatctgtacatgctgGcgtacatcatcaactttttc	6	10	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:160156198G>A	uc003fdm.2	-	3	969	c.774C>T	c.(772-774)CGC>CGT	p.R258R	IFT80_uc003fda.2_RNA	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	tripartite motif-containing 59	258						integral to membrane|intracellular	zinc ion binding				0			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTACATGCTGGCGTACATCAT	0.378													A	160156198	G	A	160156198	2	1	158	1	0	0	0	0	0	0	0	1	16529	1190	42	2		2	TRIM59	3	160156198	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	552158	160156198	37866232	666	84447											
MECOM	2122	broad.mit.edu	37	chr3	168838978	168838978	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgaatgtgccgctgaaggTtgctagggtccgtgaaaacc	14	9	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:168838978T>C	uc003ffi.3	-	6	703	c.434A>G	c.(433-435)AAC>AGC	p.N145S	MECOM_uc010hwk.1_Missense_Mutation_p.N168S|MECOM_uc003ffj.3_Missense_Mutation_p.N210S|MECOM_uc011bpi.1_Missense_Mutation_p.N146S|MECOM_uc003ffn.3_Missense_Mutation_p.N145S|MECOM_uc003ffk.2_Missense_Mutation_p.N145S|MECOM_uc003ffl.2_Missense_Mutation_p.N305S|MECOM_uc011bpj.1_Missense_Mutation_p.N333S|MECOM_uc011bpk.1_Missense_Mutation_p.N135S|MECOM_uc010hwn.2_Missense_Mutation_p.N333S	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	145	Interaction with MAPK9, SMAD3 and probably SUV39H1.|C2H2-type 4.				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						CCGCTGAAGGTTGCTAGGGTC	0.512													C	168838978	T	C	168838978	3	2	158	1	0	0	0	0	1	0	0	0	9422	1725	60	3	2765	3	MECOM	3	168838978	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	8682780	168838978	29183452	667	84448											
TNIK	23043	broad.mit.edu	37	chr3	170819309	170819309	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctccatcttcctcctcttcCtcgctactttctgactcctc	2	19	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:170819309C>A	uc003fhh.2	-	22	2865	c.2520G>T	c.(2518-2520)GAG>GAT	p.E840D	TNIK_uc003fhi.2_Missense_Mutation_p.E785D|TNIK_uc003fhj.2_Missense_Mutation_p.E811D|TNIK_uc003fhk.2_Missense_Mutation_p.E832D|TNIK_uc003fhl.2_Missense_Mutation_p.E756D|TNIK_uc003fhm.2_Missense_Mutation_p.E777D|TNIK_uc003fhn.2_Missense_Mutation_p.E803D|TNIK_uc003fho.2_Missense_Mutation_p.E748D|TNIK_uc003fhg.2_Missense_Mutation_p.E18D	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	840	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCTCCTCTTCCTCGCTACTTT	0.478													A	170819309	C	A	170819309	3	1	158	1	0	0	0	0	1	0	0	0	16310	680	24	5	1610	5	TNIK	3	170819309	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1980331	170819309	27203121	668	84449											
TNFSF10	8743	broad.mit.edu	37	chr3	172224302	172224303	+	Frame_Shift_Ins	INS	-	-	A													tagccaactaaaaaggccccINSaaaaaaactggcttcatggt					rs112120355	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:172224302_172224303insA	uc003fid.2	-	5	920_921	c.825_826insT	c.(823-828)TTCGGGfs	p.F275fs	TNFSF10_uc003fie.2_3'UTR	NM_003810	NP_003801	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily,	275_276	Extracellular (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			skin(4)|lung(1)	5	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AAAAAGGCCCCAAAAAAACTGG	0.356													A	172224303	-	A	172224302	7	5	158	1	0	1	1	0	0	0	0	0	16298	594	21	0	23	0	TNFSF10	3	172224302	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	1404993	172224302	25798128	669	84450											
KLHL24	54800	broad.mit.edu	37	chr3	183368716	183368716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaaatgcaaaaattttgCgttacagacttttgaggatg	8	6	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:183368716C>T	uc003flv.2	+	3	867	c.572C>T	c.(571-573)GCG>GTG	p.A191V	KLHL24_uc003flw.2_Missense_Mutation_p.A191V|KLHL24_uc003flx.2_Missense_Mutation_p.A191V	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	191	BACK.					axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AAAAATTTTGCGTTACAGACT	0.368													T	183368716	C	T	183368716	3	4	158	1	0	0	0	0	1	0	0	0	8379	768	27	1	574	1	KLHL24	3	183368716	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	11144414	183368716	14653714	670	84451											
EIF2B5	8893	broad.mit.edu	37	chr3	183861930	183861930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaggaactacataaagcGcgcagccgaccatttggaag	10	9	0	0	rs138772928	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:183861930G>A	uc003fmp.2	+	14	2277	c.1913G>A	c.(1912-1914)CGC>CAC	p.R638H	EIF2B5_uc003fmq.2_Missense_Mutation_p.R359H|EIF2B5_uc003fmr.2_Missense_Mutation_p.R46H	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B,	638	W2.				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	p.R638C(1)		ovary(5)	5	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TACATAAAGCGCGCAGCCGAC	0.478													A	183861930	G	A	183861930	3	1	158	1	0	0	0	0	1	0	0	0	5004	1087	38	1	1967	1	EIF2B5	3	183861930	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	493214	183861930	14160500	671	84452											
FAM131A	131408	broad.mit.edu	37	chr3	184062581	184062581	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggactcactctacaactcGcccctcacagagtcctgcct	6	18	3	1	rs145026576	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:184062581G>A	uc003fog.2	+	3	2195	c.831G>A	c.(829-831)TCG>TCA	p.S277S	FAM131A_uc003fob.1_Silent_p.S185S|FAM131A_uc003foc.2_Silent_p.S223S|FAM131A_uc003foe.2_Silent_p.S223S	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	277						extracellular region				breast(1)	1	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTACAACTCGCCCCTCACAG	0.672													A	184062581	G	A	184062581	2	1	158	1	0	0	0	0	0	0	0	1	5439	1074	38	1		1	FAM131A	3	184062581	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	200651	184062581	13959849	672	84453											
CLCN2	1181	broad.mit.edu	37	chr3	184076787	184076787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcgggcgcaacggctccGtccatattccaagagctctg	11	14	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:184076787G>A	uc003foi.2	-	2	320	c.196C>T	c.(196-198)CGG>TGG	p.R66W	CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Missense_Mutation_p.R66W|CLCN2_uc011brl.1_Missense_Mutation_p.R66W|CLCN2_uc011brm.1_Missense_Mutation_p.R66W|CLCN2_uc011brn.1_Missense_Mutation_p.R66W|POLR2H_uc003foj.1_5'Flank	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	66	Cytoplasmic (By similarity).					chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CAACGGCTCCGTCCATATTCC	0.637													A	184076787	G	A	184076787	3	1	158	1	0	0	0	0	1	0	0	0	3463	1144	40	1	2592	1	CLCN2	3	184076787	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	14206	184076787	13945643	673	84454											
EHHADH	1962	broad.mit.edu	37	chr3	184935990	184935990	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttacaactttatctagaaTgcccagcttgagtgcttcat	7	9	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:184935990T>C	uc003fpf.2	-	5	529	c.502A>G	c.(502-504)ATT>GTT	p.I168V	EHHADH_uc011brs.1_Missense_Mutation_p.I72V	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	168	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TTATCTAGAATGCCCAGCTTG	0.323													C	184935990	T	C	184935990	3	2	158	1	0	0	0	0	1	0	0	0	4982	1464	51	3	1681	3	EHHADH	3	184935990	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	859203	184935990	13086440	674	84455											
MAP3K13	9175	broad.mit.edu	37	chr3	185191365	185191365	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttagacataccctctgctgAgccagtggggaggagccctg	13	12	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:185191365A>G	uc010hyf.2	+	12	2512	c.2246A>G	c.(2245-2247)GAG>GGG	p.E749G	MAP3K13_uc011brt.1_Missense_Mutation_p.E542G|MAP3K13_uc011bru.1_Missense_Mutation_p.E605G|MAP3K13_uc003fpi.2_Missense_Mutation_p.E749G|MAP3K13_uc010hyg.2_Missense_Mutation_p.E439G	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	749					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CCCTCTGCTGAGCCAGTGGGG	0.547													G	185191365	A	G	185191365	3	3	158	1	0	0	0	0	1	0	0	0	9247	304	11	3	2284	3	MAP3K13	3	185191365	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	255375	185191365	12831065	675	84456											
TMEM41A	90407	broad.mit.edu	37	chr3	185212518	185212518	+	Frame_Shift_Del	DEL	A	A	-													aaagtctcaaaaacaataagAaaaaaaacaagctgtttctg					rs150885877	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:185212517_185212517GA>G	uc003fpj.2	-	3	564	c.468_468TC>C	c.(466-468)ttcfs	p.F156fs	TMEM41A_uc003fpl.2_3'UTR	NM_080652	NP_542383	Q96HV5	TM41A_HUMAN	Homo sapiens transmembrane protein 41A (TMEM41A), mRNA.	156						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACA	0.443													-	185212518	A	-	185212518	7	5	158	1	0	1	0	1	0	0	0	0	16161	246	9	0	335	0	TMEM41A	3	185212518	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	21153	185212518	12809912	676	84457											
SENP2	59343	broad.mit.edu	37	chr3	185304262	185304263	+	Frame_Shift_Ins	INS	-	-	C													tttctgcgaccggtcggtgcINScccctgcccgggccctcctg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:185304261_185304262G>GC	uc003fpn.3	+	0	231_232	c.60_61G>GC	c.(58-63)gtgcccfs	p.V20fs	SENP2_uc011brv.2_Intron|SENP2_uc011brw.2_5'UTR	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	20					Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			ACCGGTCGGTGCCCCCTGCCCG	0.678													C	185304263	-	C	185304262	7	5	158	1	0	1	1	0	0	0	0	0	14047	739	26	0	63	0	SENP2	3	185304262	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	91744	185304262	12718168	677	84458											
PYDC2	152138	broad.mit.edu	37	chr3	191179227	191179227	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagagctgatgaacactgTgtgatgcccccaccttaacc	11	12	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:191179227T>C	uc011bso.1	+	1	276	c.276T>C	c.(274-276)TGT>TGC	p.C92C		NM_001083308	NP_001076777	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	92	DAPIN.					cytoplasm|nucleus					0						ATGAACACTGTGTGATGCCCC	0.512													C	191179227	T	C	191179227	2	2	158	1	0	0	0	0	0	0	0	1	12859	1702	59	3		3	PYDC2	3	191179227	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	5874965	191179227	6843203	678	84459											
ATP13A5	344905	broad.mit.edu	37	chr3	192997203	192997203	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaaacagaatgaaaatTgtgaggcccaaggcagctag	11	7	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:192997203T>A	uc011bsq.1	-	28	3267	c.3267A>T	c.(3265-3267)ACA>ACT	p.T1089T		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1089	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GAATGAAAATTGTGAGGCCCA	0.363													A	192997203	T	A	192997203	2	1	158	1	0	0	0	0	0	0	0	1	1127	1799	63	5		5	ATP13A5	3	192997203	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1817976	192997203	5025227	679	84460											
LSG1	55341	broad.mit.edu	37	chr3	194379824	194379824	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttgttgatcagaatgacGttctccttattggcatccat	8	10	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:194379824G>A	uc003fui.2	-	7	936	c.621C>T	c.(619-621)AAC>AAT	p.N207N		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	207					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TCAGAATGACGTTCTCCTTAT	0.403													A	194379824	G	A	194379824	2	1	158	1	0	0	0	0	0	0	0	1	9049	1136	40	1		1	LSG1	3	194379824	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1382621	194379824	3642606	680	84461											
APOD	347	broad.mit.edu	37	chr3	195306281	195306281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaaatgcttgtccctctgCcgcaccgaagaggccagcca	10	14	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:195306281C>T	uc003fur.2	-	2	414	c.52G>A	c.(52-54)GCA>ACA	p.A18T	APOD_uc011bsx.1_Missense_Mutation_p.A18T	NM_001647	NP_001638	P05090	APOD_HUMAN	apolipoprotein D precursor	18					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			ovary(2)	2	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TGTCCCTCTGCCGCACCGAAG	0.567													T	195306281	C	T	195306281	3	4	158	1	0	0	0	0	1	0	0	0	801	739	26	2	533	2	APOD	3	195306281	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	926457	195306281	2716149	681	84462											
MUC4	4585	broad.mit.edu	37	chr3	195484161	195484161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaatctccagagtgaatgGctccagcgacttgggtgtcc	12	10	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:195484161G>A	uc011bto.1	-	19	15101	c.14641C>T	c.(14641-14643)CCA>TCA	p.P4881S	MUC4_uc003fuz.2_Missense_Mutation_p.P607S|MUC4_uc003fva.2_Missense_Mutation_p.P489S|MUC4_uc003fvb.2_Missense_Mutation_p.P525S|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.P525S|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.P489S|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.P573S|MUC4_uc011bti.1_Missense_Mutation_p.P573S|MUC4_uc011btj.1_Missense_Mutation_p.P750S|MUC4_uc011btk.1_Missense_Mutation_p.P489S|MUC4_uc011btl.1_Missense_Mutation_p.P518S|MUC4_uc011btm.1_Missense_Mutation_p.P698S|MUC4_uc011btn.1_Missense_Mutation_p.P489S|MUC4_uc003fvo.2_Missense_Mutation_p.P773S|MUC4_uc003fvp.2_Missense_Mutation_p.P722S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1766					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGTGAATGGCTCCAGCGAC	0.557													A	195484161	G	A	195484161	3	1	158	1	0	0	0	0	1	0	0	0	9978	1203	42	2	1245	2	MUC4	3	195484161	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	177880	195484161	2538269	682	84463											
MUC4	4585	broad.mit.edu	37	chr3	195516927	195516927	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagtggcagcacctgttgaTgttgagggcagttctgtttg	14	7	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:195516927T>C	uc011bto.1	-	2	1984	c.1524A>G	c.(1522-1524)ACA>ACG	p.T508T	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Silent_p.T390T	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	513					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CACCTGTTGATGTTGAGGGCA	0.478													C	195516927	T	C	195516927	2	2	158	1	0	0	0	0	0	0	0	1	9978	1451	51	3		3	MUC4	3	195516927	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	32766	195516927	2505503	683	84464											
TFRC	7037	broad.mit.edu	37	chr3	195792355	195792355	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taactccaaagatgttaagaAtttttatctctttcagcaca	4	8	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:195792355A>T	uc003fvz.3	-	10	1440	c.1157T>A	c.(1156-1158)ATT>AAT	p.I386N	TFRC_uc003fwa.3_Missense_Mutation_p.I386N|TFRC_uc010hzy.2_Missense_Mutation_p.I305N|TFRC_uc011btr.1_Missense_Mutation_p.I104N	NM_003234	NP_003225	P02786	TFR1_HUMAN	transferrin receptor	386	Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			ovary(3)	3	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		GATGTTAAGAATTTTTATCTC	0.318			T	BCL6	NHL								T	195792355	A	T	195792355	3	4	158	1	0	0	0	0	1	0	0	0	15809	101	4	5	1165	5	TFRC	3	195792355	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	275428	195792355	2230075	684	84465											
RNF168	165918	broad.mit.edu	37	chr3	196214348	196214351	+	Frame_Shift_Del	DEL	CTGT	CTGT	-													gctcttcgccttttttctgcCtgtcttttttcctcttcttc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:196214347_196214350CCTGT>C	uc003fwq.3	-	2	1073_1076	c.478_481ACAGG>G	c.(478-483)caggcafs	p.Q160fs	RNF168_uc010iah.3_5'UTR	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.	160	Glu-rich.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTTTTTTCTGCCTGTCTTTTTTCC	0.466													-	196214351	CTGT	-	196214348	7	5	158	1	0	1	0	1	0	0	0	0	13459	680	24	0	1251	0	RNF168	3	196214348	Frame_Shift_Del	DEL	CTGT	TCGA-CD-A4MG-01A-11D-A25D-08	421993	196214348	1808082	685	84466											
LRRC33	375387	broad.mit.edu	37	chr3	196386689	196386689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcagcctcccgccccacGcccggatgctcaccctggat	9	21	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:196386689G>A	uc003fwv.2	+	3	279	c.175G>A	c.(175-177)GCC>ACC	p.A59T		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	59	Extracellular (Potential).|LRR 1.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CCCGCCCCACGCCCGGATGCT	0.667													A	196386689	G	A	196386689	3	1	158	1	0	0	0	0	1	0	0	0	8988	1087	38	1	181	1	LRRC33	3	196386689	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	172341	196386689	1635741	686	84467											
LRRC33	375387	broad.mit.edu	37	chr3	196387398	196387398	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggacctgtacaacacctcgtCgccgagggagatggtggccc	14	13	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:196387398C>A	uc003fwv.2	+	3	988	c.884C>A	c.(883-885)TCG>TAG	p.S295*		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	295	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		AACACCTCGTCGCCGAGGGAG	0.612													A	196387398	C	A	196387398	4	1	158	1	0	0	0	0	0	1	0	0	8988	893	31	5	890	5	LRRC33	3	196387398	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	709	196387398	1635032	687	84468											
MFI2	4241	broad.mit.edu	37	chr3	196743193	196743193	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatccttctggccataggcCtcagagctgaacatctggaa	10	11	3	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:196743193C>A	uc003fxk.3	-	8	1061	c.948G>T	c.(946-948)GAG>GAT	p.E316D		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	316	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GGCCATAGGCCTCAGAGCTGA	0.577													A	196743193	C	A	196743193	3	1	158	1	0	0	0	0	1	0	0	0	9522	680	24	5	1304	5	MFI2	3	196743193	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	355795	196743193	1279237	688	84469											
DLG1	1739	broad.mit.edu	37	chr3	196786868	196786868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcaaggatacagtgtttgCcctaaaataaagggaacaaa	8	7	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:196786868C>T	uc003fxo.3	-	24	2598	c.2408G>A	c.(2407-2409)GGC>GAC	p.G803D	DLG1_uc011bub.1_Missense_Mutation_p.G699D|DLG1_uc011buc.1_Missense_Mutation_p.G687D|DLG1_uc011bud.1_Missense_Mutation_p.G486D|DLG1_uc003fxn.3_Missense_Mutation_p.G825D|DLG1_uc011bue.1_Missense_Mutation_p.G791D|DLG1_uc010ial.2_Missense_Mutation_p.G803D	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	803	Guanylate kinase-like.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ACAGTGTTTGCCCTAAAATAA	0.348													T	196786868	C	T	196786868	3	4	158	1	0	0	0	0	1	0	0	0	4554	753	26	2	318	2	DLG1	3	196786868	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	43675	196786868	1235562	689	84470											
BDH1	622	broad.mit.edu	37	chr3	197260430	197260430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaaccaagcaatagtgggCgtctgcaagagaaaaggaag	13	6	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:197260430C>T	uc003fxr.2	-	4	488	c.86G>A	c.(85-87)CGC>CAC	p.R29H	BDH1_uc003fxs.2_Missense_Mutation_p.R29H|BDH1_uc003fxt.2_5'UTR|BDH1_uc003fxu.2_Missense_Mutation_p.R29H	NM_203314	NP_976059	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	29					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			ovary(1)	1	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	CAATAGTGGGCGTCTGCAAGA	0.592													T	197260430	C	T	197260430	3	4	158	1	0	0	0	0	1	0	0	0	1390	768	27	1	965	1	BDH1	3	197260430	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	473562	197260430	762000	690	84471											
PCGF3	10336	broad.mit.edu	37	chr4	737367	737367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcacttagattcccatcGgaatggtgagtgccctgcgt	11	11	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:737367G>A	uc011bva.1	+	8	843	c.368G>A	c.(367-369)CGG>CAG	p.R123Q	PCGF3_uc003gbd.1_RNA|PCGF3_uc003gbe.2_Missense_Mutation_p.R123Q|PCGF3_uc010ibh.2_Missense_Mutation_p.R123Q|PCGF3_uc003gbg.1_Missense_Mutation_p.R89Q|PCGF3_uc003gbh.2_Missense_Mutation_p.R89Q	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN	ring finger protein 3	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding				0						GATTCCCATCGGAATGGTGAG	0.572													A	737367	G	A	737367	3	1	158	1	0	0	0	0	1	0	0	0	11576	1116	39	1	382	1	PCGF3	4	737367	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08		737367	190416909	691	84472											
GAK	2580	broad.mit.edu	37	chr4	871470	871470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtagacctcgcagaaggGcctgcagccgctcctctgct	11	16	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:871470G>A	uc003gbm.3	-	16	1988	c.1789C>T	c.(1789-1791)CCC>TCC	p.P597S	GAK_uc003gbn.3_Missense_Mutation_p.P518S|GAK_uc010ibk.1_Missense_Mutation_p.P491S|GAK_uc003gbl.3_Missense_Mutation_p.P461S	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	597	C2 tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		TCGCAGAAGGGCCTGCAGCCG	0.667													A	871470	G	A	871470	3	1	158	1	0	0	0	0	1	0	0	0	6195	1203	42	2	2198	2	GAK	4	871470	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	134103	871470	190282806	692	84473											
TMEM175	84286	broad.mit.edu	37	chr4	944297	944298	+	Frame_Shift_Del	DEL	CA	CA	-													cgtgacagtggcctgggcagCacacacaaggtgggggcccg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:944296_944297GCA>G	uc003gbq.3	+	3	378_379	c.280_281GCA>G	c.(280-282)gcafs	p.A94fs	TMEM175_uc010ibl.1_Frame_Shift_Del_p.A94fs|TMEM175_uc003gbp.1_Frame_Shift_Del_p.A12fs|TMEM175_uc003gbs.3_5'UTR|TMEM175_uc003gbt.3_5'UTR|TMEM175_uc003gbr.3_Frame_Shift_Del_p.A12fs	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	94						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCCTGGGCAGCACACACAAGG	0.599													-	944298	CA	-	944297	7	5	158	1	0	1	0	1	0	0	0	0	16088	710	25	0	291	0	TMEM175	4	944297	Frame_Shift_Del	DEL	CA	TCGA-CD-A4MG-01A-11D-A25D-08	72827	944297	190209979	693	84474											
IDUA	3425	broad.mit.edu	37	chr4	995271	995271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggtaggtacggactggCgcatgtttccaagtggaact	14	8	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:995271C>T	uc003gby.2	+	5	597	c.509C>T	c.(508-510)GCG>GTG	p.A170V	IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Missense_Mutation_p.A123V	NM_000203	NP_000194	P35475	IDUA_HUMAN	alpha-L-iduronidase precursor	170					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	TACGGACTGGCGCATGTTTCC	0.587													T	995271	C	T	995271	3	4	158	1	0	0	0	0	1	0	0	0	7504	768	27	1	527	1	IDUA	4	995271	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	50974	995271	190159005	694	84475											
IDUA	3425	broad.mit.edu	37	chr4	996842	996842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctggtctacgtcacgcGctacctggacaacgggctct	12	14	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:996842G>A	uc003gby.2	+	10	1509	c.1421G>A	c.(1420-1422)CGC>CAC	p.R474H	IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Missense_Mutation_p.R496H	NM_000203	NP_000194	P35475	IDUA_HUMAN	alpha-L-iduronidase precursor	474					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	TACGTCACGCGCTACCTGGAC	0.751													A	996842	G	A	996842	3	1	158	1	0	0	0	0	1	0	0	0	7504	1087	38	1	1459	1	IDUA	4	996842	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1571	996842	190157434	695	84476											
WHSC1	7468	broad.mit.edu	37	chr4	1957837	1957837	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attactggacgcatcaggcgCgagtgttcccgtacatggag	13	10	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:1957837C>T	uc003gdz.3	+	15	2979	c.2803C>T	c.(2803-2805)CGA>TGA	p.R935*	WHSC1_uc003geb.3_Nonsense_Mutation_p.R935*|WHSC1_uc003gec.3_Nonsense_Mutation_p.R935*|WHSC1_uc003ged.3_Nonsense_Mutation_p.R935*|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Nonsense_Mutation_p.R154*|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_Nonsense_Mutation_p.R283*	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	935	PWWP 2.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GCATCAGGCGCGAGTGTTCCC	0.488			T	IGH@	MM								T	1957837	C	T	1957837	4	4	158	1	0	0	0	0	0	1	0	0	17359	760	27	1	2933	1	WHSC1	4	1957837	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	960995	1957837	189196439	696	84477											
WHSC1	7468	broad.mit.edu	37	chr4	1977117	1977117	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagtggattcctcggggAtagaccaaaggtaaggctgt	14	7	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:1977117A>G	uc003gdz.3	+	20	3787	c.3611A>G	c.(3610-3612)GAT>GGT	p.D1204G	WHSC1_uc003geb.3_Missense_Mutation_p.D1204G|WHSC1_uc003gec.3_Missense_Mutation_p.D1204G|WHSC1_uc003ged.3_Missense_Mutation_p.D1204G|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.D423G|WHSC1_uc011bvh.1_Missense_Mutation_p.D265G|WHSC1_uc010icf.2_Missense_Mutation_p.D552G	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	1204					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TTCCTCGGGGATAGACCAAAG	0.567			T	IGH@	MM								G	1977117	A	G	1977117	3	3	158	1	0	0	0	0	1	0	0	0	17359	333	12	3	3761	3	WHSC1	4	1977117	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	19280	1977117	189177159	697	84478											
NOP14	8602	broad.mit.edu	37	chr4	2949328	2949328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacgtattccaaaagaaagCcaaacagtttctgcaggaac	7	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:2949328C>T	uc003ggj.1	-	10	1496	c.1424G>A	c.(1423-1425)GGC>GAC	p.G475D	C4orf10_uc003gge.1_RNA|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.G221D|NOP14_uc003ggk.3_Missense_Mutation_p.G475D|NOP14_uc003ggl.2_Missense_Mutation_p.G475D	NM_003703	NP_003694	P78316	NOP14_HUMAN	probable nucleolar complex protein 14	475					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)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1						CAAAAGAAAGCCAAACAGTTT	0.443													T	2949328	C	T	2949328	3	4	158	1	0	0	0	0	1	0	0	0	10536	739	26	2	1185	2	NOP14	4	2949328	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	972211	2949328	188204948	698	84479											
HTT	3064	broad.mit.edu	37	chr4	3133117	3133117	+	Frame_Shift_Del	DEL	A	A	-													tcgtttttgctaacagggggAaaaaatggtgagtacaaaag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:3133116_3133116GA>G	uc021xkv.1	+	14	2235	c.2090_2090GA>G	c.(2089-2091)ggafs	p.G697fs		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	697					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTAACAGGGGGAAAAAATGGT	0.478													-	3133117	A	-	3133117	7	5	158	1	0	1	0	1	0	0	0	0	7457	233	9	0	2149	0	HTT	4	3133117	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	183789	3133117	188021159	699	84480											
HTT	3064	broad.mit.edu	37	chr4	3214391	3214391	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcatttgcaccttcctccTgagaaagagaaggacattgt	9	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:3214391T>C	uc011bvq.1	+	50	6880	c.6735T>C	c.(6733-6735)CCT>CCC	p.P2245P		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2243					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACCTTCCTCCTGAGAAAGAGA	0.592													C	3214391	T	C	3214391	2	2	158	1	0	0	0	0	0	0	0	1	7457	1567	55	3		3	HTT	4	3214391	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	81274	3214391	187939885	700	84481											
RGS12	6002	broad.mit.edu	37	chr4	3319606	3319606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtccagcatcaactgcgGcacactgccccctcctatga	8	17	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:3319606G>A	uc003ggw.2	+	2	2613	c.1709G>A	c.(1708-1710)GGC>GAC	p.G570D	RGS12_uc003ggu.2_Missense_Mutation_p.G570D|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.G570D|RGS12_uc003ggx.1_Missense_Mutation_p.G570D	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	570						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATCAACTGCGGCACACTGCCC	0.652													A	3319606	G	A	3319606	3	1	158	1	0	0	0	0	1	0	0	0	13295	1203	42	2	1711	2	RGS12	4	3319606	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	105215	3319606	187834670	701	84482											
EVC2	132884	broad.mit.edu	37	chr4	5630345	5630345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtgctcagaaggccctgCacacgggtctctgatgactg	14	12	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:5630345C>T	uc003gij.2	-	12	1881	c.1827G>A	c.(1825-1827)GTG>GTA	p.V609V	EVC2_uc011bwb.1_Silent_p.V49V|EVC2_uc003gik.2_Silent_p.V529V	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	609						integral to membrane				large_intestine(3)|ovary(2)	5						GAAGGCCCTGCACACGGGTCT	0.488													T	5630345	C	T	5630345	2	4	158	1	0	0	0	0	0	0	0	1	5286	697	25	2		2	EVC2	4	5630345	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2310739	5630345	185523931	702	84483											
EVC2	132884	broad.mit.edu	37	chr4	5642272	5642272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtttcagcaactcttctGcttcctccattgccatcatc	4	16	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:5642272G>A	uc003gij.2	-	10	1493	c.1439C>T	c.(1438-1440)GCA>GTA	p.A480V	EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.A400V	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	480	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5						CAACTCTTCTGCTTCCTCCAT	0.468													A	5642272	G	A	5642272	3	1	158	1	0	0	0	0	1	0	0	0	5286	1319	46	2	2539	2	EVC2	4	5642272	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	11927	5642272	185512004	703	84484											
EVC	2121	broad.mit.edu	37	chr4	5735152	5735152	+	Frame_Shift_Del	DEL	A	A	-													ggacacggcactgaggcaggAaaagcatatggtaggtggag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:5735151_5735151GA>G	uc003gil.1	+	4	875	c.691_691GA>G	c.(691-693)gaafs	p.E231fs	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	231					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACTGAGGCAGGAAAAGCATAT	0.488													-	5735152	A	-	5735152	7	5	158	1	0	1	0	1	0	0	0	0	5285	246	9	0	710	0	EVC	4	5735152	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	92880	5735152	185419124	704	84485											
JAKMIP1	152789	broad.mit.edu	37	chr4	6083412	6083412	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaacagatcctcattcTtcttgttcatccgcttgttc	5	13	5	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:6083412T>G	uc003giu.3	-	6	1301	c.1025A>C	c.(1024-1026)AAG>ACG	p.K342T	JAKMIP1_uc010idb.1_Missense_Mutation_p.K342T|JAKMIP1_uc010idc.1_Missense_Mutation_p.K177T|JAKMIP1_uc010idd.1_Missense_Mutation_p.K342T|JAKMIP1_uc011bwc.1_Missense_Mutation_p.K177T|JAKMIP1_uc003giv.3_Missense_Mutation_p.K342T|JAKMIP1_uc010ide.2_Missense_Mutation_p.K342T	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	342	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						ATCCTCATTCTTCTTGTTCAT	0.527													G	6083412	T	G	6083412	3	3	158	1	0	0	0	0	1	0	0	0	7940	1609	56	5	1609	5	JAKMIP1	4	6083412	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	348260	6083412	185070864	705	84486											
KIAA0232	9778	broad.mit.edu	37	chr4	6862629	6862629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttactctgtttttcaggTactatgaagcatttccacca	5	10	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:6862629T>C	uc003gjr.3	+	7	983	c.520T>C	c.(520-522)TAC>CAC	p.Y174H	KIAA0232_uc003gjq.3_Missense_Mutation_p.Y174H	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	174							ATP binding			ovary(2)	2						GTTTTTCAGGTACTATGAAGC	0.358													C	6862629	T	C	6862629	3	2	158	1	0	0	0	0	1	0	0	0	8163	1652	57	3	538	3	KIAA0232	4	6862629	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	779217	6862629	184291647	706	84487											
SORCS2	57537	broad.mit.edu	37	chr4	7726880	7726880	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctttttgggtccccacaGcccccctgcaggccctctac	9	19	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:7726880G>A	uc003gkb.3	+	20	2612	c.2612_splice	c.e20-1	p.S871_splice	SORCS2_uc011bwi.1_Splice_Site_p.S699_splice	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor							integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2						GGTCCCCACAGCCCCCCTGCA	0.483													A	7726880	G	A	7726880	5	1	158	1	0	0	0	0	0	0	1	0	14931	985	34	2	2689	2	SORCS2	4	7726880	Splice_Site	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	864251	7726880	183427396	707	84488											
SORCS2	57537	broad.mit.edu	37	chr4	7728581	7728581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgtgtgacggtgcaggcCgcctgtgggaactcggtgct	18	10	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:7728581C>T	uc003gkb.3	+	21	2820	c.2820C>T	c.(2818-2820)GCC>GCT	p.A940A	SORCS2_uc011bwi.1_Silent_p.A768A	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor	940	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2						CGGTGCAGGCCGCCTGTGGGA	0.632													T	7728581	C	T	7728581	2	4	158	1	0	0	0	0	0	0	0	1	14931	639	23	1		1	SORCS2	4	7728581	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1701	7728581	183425695	708	84489											
DRD5	1816	broad.mit.edu	37	chr4	9785033	9785033	+	Frame_Shift_Del	DEL	G	G	-													gtctgggagctggactgcgaGggggagatttctttagacaa							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:9785032_9785032AG>A	uc003gmb.4	+	0	1775	c.1379_1379AG>A	c.(1378-1380)gagfs	p.E460fs		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	460					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CTGGACTGCGAGGGGGAGATT	0.502													-	9785033	G	-	9785033	7	5	158	1	0	1	0	1	0	0	0	0	4760	991	35	0	1382	0	DRD5	4	9785033	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	2056452	9785033	181369243	709	84490											
WDR1	9948	broad.mit.edu	37	chr4	10080565	10080565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggtgcactgccacaacttCgggctcgtagccggggttgt	16	11	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:10080565C>T	uc003gmf.2	-	12	1628	c.1345G>A	c.(1345-1347)GAA>AAA	p.E449K	WDR1_uc003gmg.2_Missense_Mutation_p.E309K|WDR1_uc010idm.2_RNA|hsa-mir-3138|MI0014161_5'Flank	NM_017491	NP_059830	O75083	WDR1_HUMAN	WD repeat-containing protein 1 isoform 1	449	WD 8.				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			ovary(2)|pancreas(1)	3				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		GCCACAACTTCGGGCTCGTAG	0.612													T	10080565	C	T	10080565	3	4	158	1	0	0	0	0	1	0	0	0	17269	893	31	1	491	1	WDR1	4	10080565	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	295532	10080565	181073711	710	84491											
CPEB2	132864	broad.mit.edu	37	chr4	15005744	15005744	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagcgttccgacgagcggcGgcggcggcggcggcttcggc	19	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:15005744G>T	uc003gni.1	+	1	223	c.136G>T	c.(136-138)GGC>TGC	p.G46C	uc003gng.3_5'Flank|uc003gnh.1_5'Flank|CPEB2_uc003gnj.1_Missense_Mutation_p.G46C|CPEB2_uc003gnk.1_Missense_Mutation_p.G46C|CPEB2_uc003gnl.1_Missense_Mutation_p.G46C|CPEB2_uc003gnm.1_Missense_Mutation_p.G46C|CPEB2_uc003gnn.1_Missense_Mutation_p.G46C	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding	46	Pro-rich.				regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1						GACGAgcggcggcggcggcgg	0.527													T	15005744	G	T	15005744	3	4	158	1	0	0	0	0	1	0	0	0	3801	1116	39	5	1449	5	CPEB2	4	15005744	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4925179	15005744	176148532	711	84492											
TAPT1	202018	broad.mit.edu	37	chr4	16165091	16165093	+	In_Frame_Del	DEL	ATG	ATG	-													tgcttgtcacaagtaatggtAtgatattttccttttgatga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:16165090_16165092TATG>T	uc010ied.1	-	13	1624_1626	c.1543_1545CATA>A	c.(1543-1545)ata>A	p.I515del	TAPT1_uc011bxd.1_Non-coding_Transcript|TAPT1_uc011bxe.1_In_Frame_Del_p.I404del	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN	Homo sapiens transmembrane anterior posterior transformation 1 (TAPT1), mRNA.	515						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						CAAGTAATGGTATGATATTTTCC	0.374													-	16165093	ATG	-	16165091	7	5	158	1	0	1	0	1	0	0	0	0	15551	449	16	0	163	0	TAPT1	4	16165091	In_Frame_Del	DEL	ATG	TCGA-CD-A4MG-01A-11D-A25D-08	1159347	16165091	174989185	712	84493											
KCNIP4	80333	broad.mit.edu	37	chr4	20734314	20734314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taattcctacctgaaaaaatGtttcaacgtgttgtctggga	8	7	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:20734314G>A	uc003gqe.2	-	6	665	c.581C>T	c.(580-582)ACA>ATA	p.T194I	KCNIP4_uc003gqf.1_Missense_Mutation_p.T190I|KCNIP4_uc003gqg.1_Missense_Mutation_p.T149I|KCNIP4_uc003gqh.1_Missense_Mutation_p.T186I|KCNIP4_uc003gqi.1_Missense_Mutation_p.T149I|PACRGL_uc003gpu.2_Intron|PACRGL_uc003gpx.3_Intron|PACRGL_uc003gpw.2_Intron|KCNIP4_uc010iel.2_Missense_Mutation_p.T191I|KCNIP4_uc003gqd.3_Missense_Mutation_p.T174I	NM_147182	NP_671711	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4 isoform 3	211	EF-hand 4.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity				0		Breast(46;0.134)				CTGAAAAAATGTTTCAACGTG	0.373													A	20734314	G	A	20734314	3	1	158	1	0	0	0	0	1	0	0	0	8042	1377	48	4	132	4	KCNIP4	4	20734314	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4569223	20734314	170419962	713	84494											
GPR125	166647	broad.mit.edu	37	chr4	22390718	22390718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaaatactcactagggtgCgtttggccgactgccgtaat	10	9	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:22390718C>T	uc003gqm.1	-	18	2981	c.2716G>A	c.(2716-2718)GCA>ACA	p.A906T	GPR125_uc010ieo.1_Missense_Mutation_p.A762T|GPR125_uc003gql.1_Missense_Mutation_p.A33T	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	906	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				CACTAGGGTGCGTTTGGCCGA	0.408													T	22390718	C	T	22390718	3	4	158	1	0	0	0	0	1	0	0	0	6639	768	27	1	1257	1	GPR125	4	22390718	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1656404	22390718	168763558	714	84495											
SOD3	6649	broad.mit.edu	37	chr4	24801296	24801296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctggcaggaggtcatgcaGcggcgggacgacgacggcgc	18	11	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:24801296G>A	uc003gqz.2	+	2	358	c.153G>A	c.(151-153)CAG>CAA	p.Q51Q	SOD3_uc003gqy.1_RNA	NM_003102	NP_003093	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular precursor	51					removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding				0		Breast(46;0.0503)				AGGTCATGCAGCGGCGGGACG	0.716													A	24801296	G	A	24801296	2	1	158	1	0	0	0	0	0	0	0	1	14922	962	34	2		2	SOD3	4	24801296	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2410578	24801296	166352980	715	84496											
LGI2	55203	broad.mit.edu	37	chr4	25005411	25005411	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgaagcgggtaagggaaaGgtagagggtattttgcattc	16	3	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:25005411G>T	uc003grf.2	-	8	1399	c.1300C>A	c.(1300-1302)CTT>ATT	p.L434I		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	434	EAR 5.					extracellular region					0		Breast(46;0.173)				GTAAGGGAAAGGTAGAGGGTA	0.532													T	25005411	G	T	25005411	3	4	158	1	0	0	0	0	1	0	0	0	8752	1000	35	5	341	5	LGI2	4	25005411	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	204115	25005411	166148865	716	84497											
LGI2	55203	broad.mit.edu	37	chr4	25005661	25005661	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccatttataaactgtggaCagaccagcctttgagctgtc	8	10	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:25005661C>A	uc003grf.2	-	8	1149	c.1050G>T	c.(1048-1050)CTG>CTT	p.L350L		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	350	EAR 3.					extracellular region					0		Breast(46;0.173)				AAACTGTGGACAGACCAGCCT	0.473													A	25005661	C	A	25005661	2	1	158	1	0	0	0	0	0	0	0	1	8752	465	17	5		5	LGI2	4	25005661	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	250	25005661	166148615	717	84498											
SLC34A2	10568	broad.mit.edu	37	chr4	25671387	25671388	+	Frame_Shift_Ins	INS	-	-	T													ccagcttatagtggagagctINStccacttcaagaatggagaa							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:25671386_25671387C>CT	uc003grr.3	+	6	834_835	c.753_754C>CT	c.(751-756)agcttcfs	p.S251fs	SLC34A2_uc003grs.3_Frame_Shift_Ins_p.S250fs|SLC34A2_uc010iev.3_Frame_Shift_Ins_p.S250fs	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	251					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.E250D(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TAGTGGAGAGCTTCCACTTCAA	0.495			T	ROS1	NSCLC								T	25671388	-	T	25671387	7	5	158	1	0	1	1	0	0	0	0	0	14568	1609	56	0	776	0	SLC34A2	4	25671387	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	665726	25671387	165482889	718	84499											
TBC1D19	55296	broad.mit.edu	37	chr4	26741507	26741507	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccactttgttttctatAccatgaaccttccaaattgt	4	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:26741507A>G	uc003gsf.3	+	17	1409	c.1139A>G	c.(1138-1140)TAC>TGC	p.Y380C	TBC1D19_uc010iew.2_Missense_Mutation_p.Y380C|TBC1D19_uc011bxu.1_Missense_Mutation_p.Y315C	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	380	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)	1		Breast(46;0.0503)				TGTTTTCTATACCATGAACCT	0.294													G	26741507	A	G	26741507	3	3	158	1	0	0	0	0	1	0	0	0	15604	391	14	3	1205	3	TBC1D19	4	26741507	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1070120	26741507	164412769	719	84500											
TBC1D19	55296	broad.mit.edu	37	chr4	26750039	26750039	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccttgcttatagacttcgCatatcatttaagtggatggt	8	7	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:26750039C>T	uc003gsf.3	+	19	1596	c.1326C>T	c.(1324-1326)CGC>CGT	p.R442R	TBC1D19_uc010iew.2_Silent_p.R442R|TBC1D19_uc011bxu.1_Silent_p.R377R	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	442	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)	1		Breast(46;0.0503)				ATAGACTTCGCATATCATTTA	0.348													T	26750039	C	T	26750039	2	4	158	1	0	0	0	0	0	0	0	1	15604	697	25	2		2	TBC1D19	4	26750039	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	8532	26750039	164404237	720	84501											
PCDH7	5099	broad.mit.edu	37	chr4	30724189	30724189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggaggtgaaccagctgcGcttcacggtcatggcccgcg	15	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:30724189G>A	uc003gsk.1	+	1	2153	c.1145G>A	c.(1144-1146)CGC>CAC	p.R382H	PCDH7_uc011bxw.1_Missense_Mutation_p.R335H|PCDH7_uc011bxx.1_Missense_Mutation_p.R382H	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	382	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						AACCAGCTGCGCTTCACGGTC	0.667													A	30724189	G	A	30724189	3	1	158	1	0	0	0	0	1	0	0	0	11516	1087	38	1	1147	1	PCDH7	4	30724189	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3974150	30724189	160430087	721	84502											
KLF3	51274	broad.mit.edu	37	chr4	38691388	38691388	+	Frame_Shift_Del	DEL	A	A	-													atgagaagcctatatcacagAaaaaaattaaaatagaacct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:38691387_38691387GA>G	uc003gth.4	+	3	914	c.582_582GA>G	c.(580-582)cagfs	p.Q194fs	KLF3_uc003gtg.2_Frame_Shift_Del_p.Q194fs	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	194	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						CTATATCACAGAAAAAAATTA	0.363													-	38691388	A	-	38691388	7	5	158	1	0	1	0	1	0	0	0	0	8347	247	9	0	593	0	KLF3	4	38691388	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	7967199	38691388	152462888	722	84503											
RFC1	5981	broad.mit.edu	37	chr4	39297317	39297317	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccccagccagcttgggaaGgtgggaaactgggtcatgta	14	9	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:39297317G>T	uc003gty.1	-	22	3008	c.2874C>A	c.(2872-2874)ACC>ACA	p.T958T	RFC1_uc003gtx.1_Silent_p.T957T	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	958					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4						AGCTTGGGAAGGTGGGAAACT	0.478													T	39297317	G	T	39297317	2	4	158	1	0	0	0	0	0	0	0	1	13244	987	35	5		5	RFC1	4	39297317	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	605929	39297317	151856959	723	84504											
KLB	152831	broad.mit.edu	37	chr4	39435905	39435905	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttggttatcgatcacgttgGgatctcattggatcgagcca	12	8	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:39435905G>T	uc003gua.2	+	2	998	c.901G>T	c.(901-903)GGA>TGA	p.G301*	KLB_uc011byj.1_Nonsense_Mutation_p.G301*	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	301	Extracellular (Potential).|Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						GATCACGTTGGGATCTCATTG	0.423													T	39435905	G	T	39435905	4	4	158	1	0	0	0	0	0	1	0	0	8332	1233	43	5	907	5	KLB	4	39435905	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	138588	39435905	151718371	724	84505											
RBM47	54502	broad.mit.edu	37	chr4	40434726	40434731	+	In_Frame_Del	DEL	GCGGCT	GCGGCT	-													cggctgcggcggctgcggccGcggctgcggcggcagcagca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:40434725_40434730CGCGGCT>C	uc003gvc.2	-	5	2190_2195	c.1480_1485AGCCGCG>G	c.(1480-1485)gccgcg>G	p.AA500del	RBM47_uc003gvd.2_In_Frame_Del_p.AA431del|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_In_Frame_Del_p.AA462del	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	500	Ala-rich.					nucleus	RNA binding|nucleotide binding	p.A425V(2)|p.A494V(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						cggctgcggccgcggctgcggcggca	0.578													-	40434731	GCGGCT	-	40434726	7	5	158	1	0	1	0	1	0	0	0	0	13141	1087	38	0	305	0	RBM47	4	40434726	In_Frame_Del	DEL	GCGGCT	TCGA-CD-A4MG-01A-11D-A25D-08	998821	40434726	150719550	725	84506											
APBB2	323	broad.mit.edu	37	chr4	40892459	40892459	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacgctgcggtccatggggTccaccaggctgagcatgtca	14	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:40892459T>C	uc003gvl.2	-	12	2078	c.1448A>G	c.(1447-1449)GAC>GGC	p.D483G	APBB2_uc010ifu.2_Missense_Mutation_p.D55G|APBB2_uc003gvm.2_Missense_Mutation_p.D462G|APBB2_uc003gvn.2_Missense_Mutation_p.D484G|APBB2_uc011byt.1_Missense_Mutation_p.D445G	NM_173075	NP_775098	Q92870	APBB2_HUMAN	amyloid beta A4 precursor protein-binding,	483	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			ovary(2)|large_intestine(1)	3						GTCCATGGGGTCCACCAGGCT	0.617													C	40892459	T	C	40892459	3	2	158	1	0	0	0	0	1	0	0	0	761	1667	58	3	856	3	APBB2	4	40892459	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	457733	40892459	150261817	726	84507											
SLC30A9	10463	broad.mit.edu	37	chr4	42072624	42072624	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcattcctcatctacactaAcacagaagcactcttagggc	6	13	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:42072624A>T	uc003gwl.2	+	15	1480	c.1334A>T	c.(1333-1335)AAC>ATC	p.N445I	SLC30A9_uc011byx.1_Missense_Mutation_p.N205I	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter),	445					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3						ATCTACACTAACACAGAAGCA	0.478													T	42072624	A	T	42072624	3	4	158	1	0	0	0	0	1	0	0	0	14562	43	2	5	1392	5	SLC30A9	4	42072624	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1180165	42072624	149081652	727	84508											
BEND4	389206	broad.mit.edu	37	chr4	42122137	42122137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtctctcctgactgcaCtgaccttttccttttcccaa	4	16	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:42122137C>T	uc003gwn.2	-	5	1901	c.1321G>A	c.(1321-1323)GTG>ATG	p.V441M	BEND4_uc003gwm.2_Intron|BEND4_uc011byy.1_Missense_Mutation_p.V441M	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	BEN domain containing 4 isoform a	441	BEN.										0						CCTGACTGCACTGACCTTTTC	0.498													T	42122137	C	T	42122137	3	4	158	1	0	0	0	0	1	0	0	0	1400	565	20	4	291	4	BEND4	4	42122137	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	49513	42122137	149032139	728	84509											
BEND4	389206	broad.mit.edu	37	chr4	42122160	42122160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttttccttttcccaaggCcgcatgagtacttaagctca	6	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:42122160C>T	uc003gwn.2	-	5	1878	c.1298G>A	c.(1297-1299)GGC>GAC	p.G433D	BEND4_uc003gwm.2_Missense_Mutation_p.G433D|BEND4_uc011byy.1_Missense_Mutation_p.G433D	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	BEN domain containing 4 isoform a	433	BEN.										0						TTTCCCAAGGCCGCATGAGTA	0.488													T	42122160	C	T	42122160	3	4	158	1	0	0	0	0	1	0	0	0	1400	739	26	2	314	2	BEND4	4	42122160	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	23	42122160	149032116	729	84510											
KCTD8	386617	broad.mit.edu	37	chr4	44450512	44450512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatgggcaggatggtgctgCcgccgctgcccgtgtccttc	14	13	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:44450512C>T	uc003gwu.2	-	1	313	c.29G>A	c.(28-30)GGC>GAC	p.G10D		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	10						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						GATGGTGCTGCCGCCGCTGCC	0.567										HNSCC(17;0.042)			T	44450512	C	T	44450512	3	4	158	1	0	0	0	0	1	0	0	0	8115	739	26	2	1400	2	KCTD8	4	44450512	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2328352	44450512	146703764	730	84511											
GABRG1	2565	broad.mit.edu	37	chr4	46043217	46043217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataatcatcttcttgcggcaCagaaatattattcattggaa	6	7	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:46043217C>T	uc003gxb.2	-	9	1338	c.1186G>A	c.(1186-1188)GTG>ATG	p.V396M		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	396	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCTTGCGGCACAGAAATATTA	0.408													T	46043217	C	T	46043217	3	4	158	1	0	0	0	0	1	0	0	0	6171	478	17	4	215	4	GABRG1	4	46043217	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1592705	46043217	145111059	731	84512											
COMMD8	54951	broad.mit.edu	37	chr4	47458691	47458691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctttcctacttttcacgCatttcatgatagtttcttga	4	10	4	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:47458691C>T	uc003gxi.2	-	3	286	c.278G>A	c.(277-279)TGC>TAC	p.C93Y		NM_017845	NP_060315	Q9NX08	COMD8_HUMAN	COMM domain containing 8	93							protein binding				0						ACTTTTCACGCATTTCATGAT	0.348													T	47458691	C	T	47458691	3	4	158	1	0	0	0	0	1	0	0	0	3722	710	25	2	285	2	COMMD8	4	47458691	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1415474	47458691	143695585	732	84513											
ATP10D	57205	broad.mit.edu	37	chr4	47563007	47563007	+	Frame_Shift_Del	DEL	T	T	-													gcagagtggctgaggaatcaTtttttagctgaaaccagcat							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:47563006_47563006AT>A	uc003gxk.1	+	13	2746	c.2582_2582AT>A	c.(2581-2583)catfs	p.H861fs	ATP10D_uc003gxl.1_Frame_Shift_Del_p.H109fs	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	861					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CTGAGGAATCATTTTTTAGCT	0.403													-	47563007	T	-	47563007	7	5	158	1	0	1	0	1	0	0	0	0	1118	1490	52	0	2633	0	ATP10D	4	47563007	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	104316	47563007	143591269	733	84514											
CNGA1	1259	broad.mit.edu	37	chr4	47939658	47939658	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtttctgttctctggaAgaactcaaacatacgagaga	8	9	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:47939658A>T	uc003gxt.3	-	11	1119	c.853T>A	c.(853-855)TTC>ATC	p.F285I	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.F354I	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	285	Extracellular (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2						GTTCTCTGGAAGAACTCAAAC	0.373													T	47939658	A	T	47939658	3	4	158	1	0	0	0	0	1	0	0	0	3596	72	3	5	1223	5	CNGA1	4	47939658	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	376651	47939658	143214618	734	84515											
GSX2	170825	broad.mit.edu	37	chr4	54967834	54967834	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggagctggagagagaAttctcttccaacatgtacct	9	11	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:54967834A>G	uc010igp.1	+	2	924	c.660A>G	c.(658-660)GAA>GAG	p.E220E	PDGFRA_uc003haa.2_Intron	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	GS homeobox 2	220	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			TGGAGAGAGAATTCTCTTCCA	0.557													G	54967834	A	G	54967834	2	3	158	1	0	0	0	0	0	0	0	1	6850	98	4	3		3	GSX2	4	54967834	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	7028176	54967834	136186442	735	84516											
CEP135	9662	broad.mit.edu	37	chr4	56877592	56877592	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaggaaatctcattggaAttggaagcagcagtgcaaga	12	5	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:56877592A>G	uc003hbi.2	+	20	2754	c.2520A>G	c.(2518-2520)GAA>GAG	p.E840E	CEP135_uc003hbj.2_Silent_p.E546E	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	840	Potential.				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)					TCTCATTGGAATTGGAAGCAG	0.328													G	56877592	A	G	56877592	2	3	158	1	0	0	0	0	0	0	0	1	3247	98	4	3		3	CEP135	4	56877592	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1909758	56877592	134276684	736	84517											
EPHA5	2044	broad.mit.edu	37	chr4	66467570	66467570	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgtcgtaccacagaaggGcattttttatagtatacacg	9	7	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:66467570G>A	uc003hcy.2	-	3	892	c.699C>T	c.(697-699)TGC>TGT	p.C233C	EPHA5_uc003hcx.2_Silent_p.C164C|EPHA5_uc003hcz.2_Silent_p.C233C|EPHA5_uc011cah.1_Silent_p.C233C|EPHA5_uc011cai.1_Silent_p.C233C|EPHA5_uc003hda.2_Silent_p.C233C	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	233	Extracellular (Potential).|Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						CCACAGAAGGGCATTTTTTAT	0.453										TSP Lung(17;0.13)			A	66467570	G	A	66467570	2	1	158	1	0	0	0	0	0	0	0	1	5170	1195	42	2		2	EPHA5	4	66467570	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	9589978	66467570	124686706	737	84518											
TMPRSS11E	28983	broad.mit.edu	37	chr4	69343337	69343337	+	Frame_Shift_Del	DEL	A	A	-													tgacaggatttggagcactgAaaaatgatggtgagcatcgg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:69343336_69343336GA>G	uc003hdz.4	+	7	1021	c.957_957GA>G	c.(955-957)ctgfs	p.L319fs		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	319	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTGGAGCACTGAAAAATGATG	0.383													-	69343337	A	-	69343337	7	5	158	1	0	1	0	1	0	0	0	0	16239	247	9	0	988	0	TMPRSS11E	4	69343337	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	2875767	69343337	121810939	738	84519											
UGT2B28	54490	broad.mit.edu	37	chr4	70146646	70146646	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tatgaaaaaactacaagagtCaagatttgacatcatttttg	6	5	2	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:70146646C>G	uc003hej.2	+	1	430	c.428C>G	c.(427-429)TCA>TGA	p.S143*	UGT2B28_uc010ihr.2_Nonsense_Mutation_p.S143*	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family,	143					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1					Flunitrazepam(DB01544)	CTACAAGAGTCAAGATTTGAC	0.363													G	70146646	C	G	70146646	4	3	158	1	0	0	0	0	0	1	0	0	16957	838	29	5	430	5	UGT2B28	4	70146646	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	803309	70146646	121007630	739	84520											
GC	2638	broad.mit.edu	37	chr4	72649718	72649718	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgccacagcaagcagtagTaccaggaccctcttcatttt	7	12	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:72649718T>C	uc003hge.2	-	1	171	c.18A>G	c.(16-18)GTA>GTG	p.V6V	GC_uc010iie.2_Silent_p.V6V|GC_uc010iif.2_Silent_p.V25V	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	6					hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	CAAGCAGTAGTACCAGGACCC	0.393													C	72649718	T	C	72649718	2	2	158	1	0	0	0	0	0	0	0	1	6282	1625	57	3		3	GC	4	72649718	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	2503072	72649718	118504558	740	84521											
NPFFR2	10886	broad.mit.edu	37	chr4	72897894	72897894	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggattctggttcctgcCgccgacagggctcgccggga	16	12	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:72897894C>T	uc003hgg.2	+	1	374	c.276C>T	c.(274-276)GCC>GCT	p.A92A	NPFFR2_uc010iig.1_5'UTR	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	92	Extracellular (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TGGTTCCTGCCGCCGACAGGG	0.647													T	72897894	C	T	72897894	2	4	158	1	0	0	0	0	0	0	0	1	10578	639	23	1		1	NPFFR2	4	72897894	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	248176	72897894	118256382	741	84522											
NPFFR2	10886	broad.mit.edu	37	chr4	73003815	73003815	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttggtccagggaatatctgtCgcagcttcagtctttacgtt	10	9	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:73003815C>T	uc003hgg.2	+	3	791	c.693C>T	c.(691-693)GTC>GTT	p.V231V	NPFFR2_uc010iig.1_Silent_p.V13V|NPFFR2_uc003hgi.2_Silent_p.V132V|NPFFR2_uc003hgh.2_Silent_p.V129V	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	231	Helical; Name=3; (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GAATATCTGTCGCAGCTTCAG	0.403													T	73003815	C	T	73003815	2	4	158	1	0	0	0	0	0	0	0	1	10578	871	31	1		1	NPFFR2	4	73003815	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	105921	73003815	118150461	742	84523											
AFM	173	broad.mit.edu	37	chr4	74354469	74354469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgttgtgcagtgcatccGtgacacggtgaatattctct	12	8	1	2	rs149021212		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:74354469G>A	uc003hhb.2	+	7	867	c.836G>A	c.(835-837)CGT>CAT	p.R279H		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor	279	Albumin 2.				vitamin transport		vitamin E binding			ovary(2)|central_nervous_system(1)	3	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGTGCATCCGTGACACGGTG	0.363													A	74354469	G	A	74354469	3	1	158	1	0	0	0	0	1	0	0	0	361	1145	40	1	862	1	AFM	4	74354469	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1350654	74354469	116799807	743	84524											
ARHGAP24	83478	broad.mit.edu	37	chr4	86916162	86916162	+	Frame_Shift_Del	DEL	C	C	-													tcttgagaaaacccaaaccaCccccaatgggagcctacagg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:86916161_86916161AC>A	uc003hpk.3	+	8	1803	c.1354_1354AC>A	c.(1354-1356)accfs	p.T452fs	ARHGAP24_uc003hpl.3_Frame_Shift_Del_p.T357fs|ARHGAP24_uc010ikf.3_Frame_Shift_Del_p.T367fs|ARHGAP24_uc003hpm.3_Frame_Shift_Del_p.T359fs	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	452					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AACCCAAACCACCCCCAATGG	0.502													-	86916162	C	-	86916162	7	5	158	1	0	1	0	1	0	0	0	0	873	507	18	0	1501	0	ARHGAP24	4	86916162	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	12561693	86916162	104238114	744	84525											
PTPN13	5783	broad.mit.edu	37	chr4	87690963	87690963	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatttaaaaatagctcaggtCtaggattcagtttttctcga	7	6	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:87690963C>T	uc003hpz.2	+	29	5011	c.4531C>T	c.(4531-4533)CTA>TTA	p.L1511L	PTPN13_uc003hpy.2_Silent_p.L1516L|PTPN13_uc003hqa.2_Silent_p.L1492L|PTPN13_uc003hqb.2_Silent_p.L1320L|PTPN13_uc003hqc.1_5'UTR	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1511	PDZ 3.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TAGCTCAGGTCTAGGATTCAG	0.323													T	87690963	C	T	87690963	2	4	158	1	0	0	0	0	0	0	0	1	12782	912	32	4		4	PTPN13	4	87690963	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	774801	87690963	103463313	745	84526											
SLC10A6	345274	broad.mit.edu	37	chr4	87769943	87769943	+	Frame_Shift_Del	DEL	C	C	-													tgaaaatgttagagatggtgCcccccgggcagcagcccatg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:87769942_87769942GC>G	uc003hqd.2	-	0	475	c.327_327GC>C	c.(325-327)ggcfs	p.G109fs		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	109						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TAGAGATGGTGCCCCCCGGGC	0.507													-	87769943	C	-	87769943	7	5	158	1	0	1	0	1	0	0	0	0	14378	739	26	0	831	0	SLC10A6	4	87769943	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	78980	87769943	103384333	746	84527											
AFF1	4299	broad.mit.edu	37	chr4	88026993	88026993	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctccctcctcatctgcacctCcaaggtaccgtgtgggtttc	8	16	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:88026993C>G	uc003hqj.3	+	9	1758	c.1351C>G	c.(1351-1353)CCA>GCA	p.P451A	AFF1_uc011ccz.1_Missense_Mutation_p.P458A|AFF1_uc003hqk.3_Missense_Mutation_p.P451A|AFF1_uc011cda.1_Missense_Mutation_p.P89A	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	451						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		ATCTGCACCTCCAAGGTACCG	0.413													G	88026993	C	G	88026993	3	3	158	1	0	0	0	0	1	0	0	0	356	855	30	5	1427	5	AFF1	4	88026993	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	257050	88026993	103127283	747	84528											
AFF1	4299	broad.mit.edu	37	chr4	88047456	88047456	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcagagaagagtagagGggaagggctccagaagctcc	15	9	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:88047456G>T	uc003hqj.3	+	13	3165	c.2758G>T	c.(2758-2760)GGG>TGG	p.G920W	AFF1_uc011ccz.1_Missense_Mutation_p.G927W|AFF1_uc003hqk.3_Missense_Mutation_p.G920W|AFF1_uc011cda.1_Missense_Mutation_p.G558W	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	920						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AAGAGTAGAGGGGAAGGGCTC	0.557													T	88047456	G	T	88047456	3	4	158	1	0	0	0	0	1	0	0	0	356	1232	43	5	2850	5	AFF1	4	88047456	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	20463	88047456	103106820	748	84529											
NUDT9	53343	broad.mit.edu	37	chr4	88375609	88375609	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactaccatgacgaaacaggTaactttatatttattaaact	4	7	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:88375609T>C	uc003hqq.2	+	7	1197	c.874_splice	c.e7+2	p.G292_splice	NUDT9_uc003hqr.2_Splice_Site_p.G242_splice|NUDT9_uc010ikl.2_Splice_Site_p.G260_splice	NM_024047	NP_076952	Q9BW91	NUDT9_HUMAN	nudix-type motif 9 isoform a							mitochondrion	ADP-ribose diphosphatase activity				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		ACGAAACAGGTAACTTTATAT	0.348													C	88375609	T	C	88375609	5	2	158	1	0	0	0	0	0	0	1	0	10746	1652	57	3	902	3	NUDT9	4	88375609	Splice_Site	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	328153	88375609	102778667	749	84530											
MMRN1	22915	broad.mit.edu	37	chr4	90857472	90857472	+	Frame_Shift_Del	DEL	A	A	-													taccttattatatttcagttAaaaaaggcagtgtagttaca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:90857472delA	uc003hst.2	+	6	2712	c.2641delA	c.(2641-2643)AAAfs	p.K881fs	MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Frame_Shift_Del_p.K623fs	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	881					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TATTTCAGTTAAAAAAGGCAG	0.358													-	90857472	A	-	90857472	7	5	158	1	0	1	0	1	0	0	0	0	9670	363	13	0	2663	0	MMRN1	4	90857472	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	2481863	90857472	100296804	750	84531											
ADH1C	126	broad.mit.edu	37	chr4	100268938	100268938	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagccttaggaggtgcaacCtctacctcctcaatggaaaa	9	11	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:100268938C>A	uc003huu.2	-	2	169	c.84G>T	c.(82-84)GAG>GAT	p.E28D		NM_000669	NP_000660	P00326	ADH1G_HUMAN	class I alcohol dehydrogenase, gamma subunit	28					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GAGGTGCAACCTCTACCTCCT	0.348									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				A	100268938	C	A	100268938	3	1	158	1	0	0	0	0	1	0	0	0	309	680	24	5	1075	5	ADH1C	4	100268938	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	9411466	100268938	90885338	751	84532											
NHEDC2	133308	broad.mit.edu	37	chr4	103964539	103964539	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggaaaccaaaatgcacacTgctgaacacagctagcacag	9	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:103964539T>C	uc003hwx.3	-	9	1932	c.1060A>G	c.(1060-1062)AGT>GGT	p.S354G	NHEDC2_uc010iln.1_Missense_Mutation_p.S206G|NHEDC2_uc003hwy.2_Missense_Mutation_p.S354G|NHEDC2_uc011cew.1_Missense_Mutation_p.S297G|NHEDC2_uc011cex.1_Missense_Mutation_p.S297G	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN	Na+/H+ exchanger domain containing 2	354	Helical; (Potential).				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity				0				OV - Ovarian serous cystadenocarcinoma(123;2.3e-08)		AAATGCACACTGCTGAACACA	0.433													C	103964539	T	C	103964539	3	2	158	1	0	0	0	0	1	0	0	0	10401	1580	55	3	569	3	NHEDC2	4	103964539	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	3695601	103964539	87189737	752	84533											
CENPE	1062	broad.mit.edu	37	chr4	104067058	104067058	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaacttcttgcagcctctgTaggtcatctttctccttagc	7	12	5	1	rs114566933	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:104067058T>C	uc003hxb.1	-	30	4431	c.4341A>G	c.(4339-4341)CTA>CTG	p.L1447L	CENPE_uc003hxc.1_Silent_p.L1422L	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	1447	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GCAGCCTCTGTAGGTCATCTT	0.358													C	104067058	T	C	104067058	2	2	158	1	0	0	0	0	0	0	0	1	3230	1625	57	3		3	CENPE	4	104067058	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	102519	104067058	87087218	753	84534											
SGMS2	166929	broad.mit.edu	37	chr4	108831653	108831653	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgcttcaaatcatcaTgcaaaaagtattcacgggtt	8	9	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:108831653T>C	uc003hyl.3	+	7	1597	c.1042T>C	c.(1042-1044)TGC>CGC	p.C348R	uc003hym.1_Intron|SGMS2_uc003hyn.2_Missense_Mutation_p.C348R|SGMS2_uc003hyo.2_Missense_Mutation_p.C348R	NM_001136258	NP_001129730	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	348	Cytoplasmic (Potential).			C->A: Strongly decreases palmitoylation; when associated with A-343. Abolishes palmitoylation and dramatically reduces plasma membrane localization; when associated with 331-A-A-332 and A-343.	sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			lung(1)	1				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	CAAATCATCATGCAAAAAGTA	0.433													C	108831653	T	C	108831653	3	2	158	1	0	0	0	0	1	0	0	0	14215	1464	51	3	1060	3	SGMS2	4	108831653	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	4764595	108831653	82322623	754	84535											
GAR1	54433	broad.mit.edu	37	chr4	110743599	110743599	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtggtggcaggggaggcCgaggaggaggaagaggagga	25	3	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:110743599C>T	uc003hzt.2	+	5	833	c.526C>T	c.(526-528)CGA>TGA	p.R176*	GAR1_uc003hzu.2_Nonsense_Mutation_p.R176*|GAR1_uc010imi.2_Nonsense_Mutation_p.R176*	NM_018983	NP_061856	Q9NY12	GAR1_HUMAN	nucleolar protein family A, member 1	176	RGG-box 2.				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding				0						caggggaggccgaggaggagg	0.269													T	110743599	C	T	110743599	4	4	158	1	0	0	0	0	0	1	0	0	6240	644	23	1	540	1	GAR1	4	110743599	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1911946	110743599	80410677	755	84536											
ENPEP	2028	broad.mit.edu	37	chr4	111434597	111434597	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaatgttacttgaagatgtAttacctgttcaagaggatga	9	5	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:111434597A>G	uc003iab.3	+	7	1677	c.1335A>G	c.(1333-1335)GTA>GTG	p.V445V		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	445	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TTGAAGATGTATTACCTGTTC	0.323													G	111434597	A	G	111434597	2	3	158	1	0	0	0	0	0	0	0	1	5128	436	16	3		3	ENPEP	4	111434597	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	690998	111434597	79719679	756	84537											
TRAM1L1	133022	broad.mit.edu	37	chr4	118006156	118006156	+	Frame_Shift_Del	DEL	A	A	-													gaatgtgccccaaatacaagAaaaaaagtagaacacactaa							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:118006156delA	uc003ibv.3	-	1	581	c.394delT	c.(394-396)TCTfs	p.S132fs		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like	132	Helical; (Potential).|TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)	1						CAAATACAAGAAAAAAAGTAG	0.373													-	118006156	A	-	118006156	7	5	158	1	0	1	0	1	0	0	0	0	16449	246	9	0	719	0	TRAM1L1	4	118006156	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	6571559	118006156	73148120	757	84538											
NDST3	9348	broad.mit.edu	37	chr4	119154278	119154278	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taatagaaataactaccacaGggggattgattggtaagatg	11	4	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:119154278G>T	uc003ibx.2	+	9	2334	c.1931G>T	c.(1930-1932)AGG>ATG	p.R644M	NDST3_uc011cgf.1_Intron	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	644	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						AACTACCACAGGGGGATTGAT	0.353													T	119154278	G	T	119154278	3	4	158	1	0	0	0	0	1	0	0	0	10257	1000	35	5	1961	5	NDST3	4	119154278	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1148122	119154278	71999998	758	84539											
TRPC3	7222	broad.mit.edu	37	chr4	122854138	122854138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggcccctgacagcctggCgccggcccttctcccgcatc	11	21	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:122854138C>T	uc003ieg.2	-	2	349	c.275G>A	c.(274-276)CGC>CAC	p.R92H	TRPC3_uc010inr.2_Missense_Mutation_p.R19H|TRPC3_uc003ief.2_Missense_Mutation_p.R19H|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	7	Cytoplasmic (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						GACAGCCTGGCGCCGGCCCTT	0.602													T	122854138	C	T	122854138	3	4	158	1	0	0	0	0	1	0	0	0	16576	768	27	1	2534	1	TRPC3	4	122854138	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	3699860	122854138	68300138	759	84540											
BBS12	166379	broad.mit.edu	37	chr4	123664512	123664512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagataggaacaacagaatcGcaatcttattaaaaacagaa	6	6	1	3	rs145489987	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:123664512G>A	uc003ieu.2	+	2	1658	c.1465G>A	c.(1465-1467)GCA>ACA	p.A489T		NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	489					cellular protein metabolic process	cilium	ATP binding			ovary(2)	2						CAACAGAATCGCAATCTTATT	0.438									Bardet-Biedl_syndrome				A	123664512	G	A	123664512	3	1	158	1	0	0	0	0	1	0	0	0	1337	1087	38	1	1467	1	BBS12	4	123664512	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	810374	123664512	67489764	760	84541											
ANKRD50	57182	broad.mit.edu	37	chr4	125590318	125590318	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctaccaagaaaaacctggtTgctctgaagatgataatttg	8	8	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:125590318T>C	uc003ifg.3	-	3	4380	c.4114A>G	c.(4114-4116)AAC>GAC	p.N1372D	ANKRD50_uc011cgo.1_Missense_Mutation_p.N1193D|ANKRD50_uc010inw.2_Missense_Mutation_p.N1372D	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1372										central_nervous_system(1)	1						AAAACCTGGTTGCTCTGAAGA	0.418													C	125590318	T	C	125590318	3	2	158	1	0	0	0	0	1	0	0	0	677	1812	63	3	179	3	ANKRD50	4	125590318	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1925806	125590318	65563958	761	84542											
FAT4	79633	broad.mit.edu	37	chr4	126238356	126238356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggggtgcctgaggacgcgGttgtgggttccagcgtcctc	18	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:126238356G>A	uc003ifj.3	+	1	790	c.790G>A	c.(790-792)GTT>ATT	p.V264I		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	264	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGAGGACGCGGTTGTGGGTTC	0.642											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	126238356	G	A	126238356	3	1	158	1	0	0	0	0	1	0	0	0	5692	1261	44	4	792	4	FAT4	4	126238356	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	648038	126238356	64915920	762	84543											
FAT4	79633	broad.mit.edu	37	chr4	126238440	126238440	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccgctatcgcctgcaggacGaggggacccccttccaaatg	11	15	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:126238440G>T	uc003ifj.3	+	1	874	c.874G>T	c.(874-876)GAG>TAG	p.E292*		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	292	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CCTGCAGGACGAGGGGACCCC	0.672											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	126238440	G	T	126238440	4	4	158	1	0	0	0	0	0	1	0	0	5692	1059	37	5	876	5	FAT4	4	126238440	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	84	126238440	64915836	763	84544											
FAT4	79633	broad.mit.edu	37	chr4	126238905	126238905	+	Frame_Shift_Del	DEL	C	C	-													tctctgataactacggggcgCcccctggcgcagcagtccag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:126238905delC	uc003ifj.3	+	1	1339	c.1339delC	c.(1339-1341)CCCfs	p.P447fs		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	447	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CTACGGGGCGCCCCCTGGCGC	0.557											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	126238905	C	-	126238905	7	5	158	1	0	1	0	1	0	0	0	0	5692	739	26	0	1341	0	FAT4	4	126238905	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	465	126238905	64915371	764	84545											
FAT4	79633	broad.mit.edu	37	chr4	126239547	126239547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctactccctgttggttctgGccacagatctgggctcccct	9	15	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:126239547G>A	uc003ifj.3	+	1	1981	c.1981G>A	c.(1981-1983)GCC>ACC	p.A661T		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	661	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GTTGGTTCTGGCCACAGATCT	0.512													A	126239547	G	A	126239547	3	1	158	1	0	0	0	0	1	0	0	0	5692	1203	42	2	1983	2	FAT4	4	126239547	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	642	126239547	64914729	765	84546											
FAT4	79633	broad.mit.edu	37	chr4	126389897	126389897	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcttataatttaggcagtGgtacatataagctcaccacc	6	10	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:126389897G>T	uc003ifj.3	+	11	12130	c.12130G>T	c.(12130-12132)GGT>TGT	p.G4044C	FAT4_uc011cgp.1_Missense_Mutation_p.G2307C|FAT4_uc003ifi.1_Missense_Mutation_p.G1522C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4044	Laminin G-like 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TTTAGGCAGTGGTACATATAA	0.408													T	126389897	G	T	126389897	3	4	158	1	0	0	0	0	1	0	0	0	5692	1348	47	5	12172	5	FAT4	4	126389897	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	150350	126389897	64764379	766	84547											
HSPA4L	22824	broad.mit.edu	37	chr4	128753955	128753955	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatggatggacagagtggaActgaaactaaatcagattca	10	6	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:128753955A>G	uc003ifm.2	+	19	2699	c.2446A>G	c.(2446-2448)ACT>GCT	p.T816A	HSPA4L_uc011cgr.1_Missense_Mutation_p.T783A	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	816					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						ACAGAGTGGAACTGAAACTAA	0.388													G	128753955	A	G	128753955	3	3	158	1	0	0	0	0	1	0	0	0	7413	43	2	3	2520	3	HSPA4L	4	128753955	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	2364058	128753955	62400321	767	84548											
LARP1B	55132	broad.mit.edu	37	chr4	129012266	129012266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgaggaagaggccgaggaCggggaagaggacgaggcaga	21	6	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:129012266C>T	uc003iga.2	+	6	600	c.469C>T	c.(469-471)CGG>TGG	p.R157W	LARP1B_uc003ifw.1_Missense_Mutation_p.R110W|LARP1B_uc003ifx.2_Missense_Mutation_p.R157W|LARP1B_uc003ify.2_Missense_Mutation_p.R157W|LARP1B_uc003ifz.1_Missense_Mutation_p.R157W	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family member 2	157	Arg-rich.						RNA binding				0						AGGCCGAGGACGGGGAAGAGG	0.413													T	129012266	C	T	129012266	3	4	158	1	0	0	0	0	1	0	0	0	8629	527	19	1	483	1	LARP1B	4	129012266	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	258311	129012266	62142010	768	84549											
SCLT1	132320	broad.mit.edu	37	chr4	129964625	129964625	+	Splice_Site	DEL	A	A	-													acaagaggagctaaaaagctAaaaaaagacaataaaaatat							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:129964624_129964624TA>T	uc003igp.2	-	4	668	c.162_splice	c.e4-1	p.S54_splice	SCLT1_uc003igq.2_Splice_Site_p.S54_splice|SCLT1_uc010iob.1_Splice_Site_p.S54_splice|SCLT1_uc003igr.2_Splice_Site_p.S54_splice|SCLT1_uc003igt.4_Splice_Site_p.S54_splice	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	54						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GCTAAAAAGCTAAAAAAAGAC	0.269													-	129964625	A	-	129964625	8	5	158	1	0	1	0	1	0	0	1	0	13906	377	13	0		0	SCLT1	4	129964625	Splice_Site	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	952359	129964625	61189651	769	84550											
PCDH10	57575	broad.mit.edu	37	chr4	134073774	134073774	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctatcaggtatgcctgaccCctgagtccgccaagaccgac	10	15	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:134073774C>A	uc003iha.2	+	1	3305	c.2479C>A	c.(2479-2481)CCT>ACT	p.P827T	PCDH10_uc003igz.2_Missense_Mutation_p.P827T	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	827	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		ATGCCTGACCCCTGAGTCCGC	0.597													A	134073774	C	A	134073774	3	1	158	1	0	0	0	0	1	0	0	0	11507	623	22	5	2481	5	PCDH10	4	134073774	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	4109149	134073774	57080502	770	84551											
TBC1D9	23158	broad.mit.edu	37	chr4	141600232	141600232	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattaacttgaaggtctcgtTgatgttgaggaatacagaga	11	5	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:141600232T>C	uc010ioj.2	-	5	987	c.715A>G	c.(715-717)AAC>GAC	p.N239D		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	239						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AAGGTCTCGTTGATGTTGAGG	0.468													C	141600232	T	C	141600232	3	2	158	1	0	0	0	0	1	0	0	0	15624	1812	63	3	3153	3	TBC1D9	4	141600232	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	7526458	141600232	49554044	771	84552											
USP38	84640	broad.mit.edu	37	chr4	144135593	144135593	+	Frame_Shift_Del	DEL	A	A	-													atcttagtgagaaccttgctAaaaaattaaagccttcaggg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:144135592_144135592TA>T	uc003ijb.3	+	8	2997	c.2463_2463TA>T	c.(2461-2463)gctfs	p.A821fs	USP38_uc003ija.4_Frame_Shift_Del_p.A821fs|USP38_uc003ijc.3_Non-coding_Transcript	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	Homo sapiens ubiquitin specific peptidase 38 (USP38), mRNA.	821					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					AGAACCTTGCTAAAAAATTAA	0.388													-	144135593	A	-	144135593	7	5	158	1	0	1	0	1	0	0	0	0	17066	363	13	0	2498	0	USP38	4	144135593	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	2535361	144135593	47018683	772	84553											
OTUD4	54726	broad.mit.edu	37	chr4	146059097	146059097	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgccgtatctgcctttcGtgtctgggaagattgctctg	11	10	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:146059097G>A	uc003ika.3	-	21	2773	c.2635C>T	c.(2635-2637)CGA>TGA	p.R879*	OTUD4_uc003ijz.3_Nonsense_Mutation_p.R878*	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	943							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					TCTGCCTTTCGTGTCTGGGAA	0.522													A	146059097	G	A	146059097	4	1	158	1	0	0	0	0	0	1	0	0	11314	1153	40	1	518	1	OTUD4	4	146059097	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1923504	146059097	45095179	773	84554											
MAB21L2	10586	broad.mit.edu	37	chr4	151504767	151504767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccccacatcccttggcccGgccccaatcgggtggccgag	12	18	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:151504767G>A	uc003ilw.2	+	1	1691	c.586G>A	c.(586-588)GGC>AGC	p.G196S	LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	mab-21-like protein 2	196					nervous system development	nucleus				ovary(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CCCTTGGCCCGGCCCCAATCG	0.647													A	151504767	G	A	151504767	3	1	158	1	0	0	0	0	1	0	0	0	9142	1116	39	1	588	1	MAB21L2	4	151504767	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	5445670	151504767	39649509	774	84555											
PRSS48	345062	broad.mit.edu	37	chr4	152203364	152203364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtaggtgactcaaggaaaCgtgtgaagtactacgtgtcc	12	8	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:152203364C>T	uc011cif.1	+	3	280	c.280C>T	c.(280-282)CGT>TGT	p.R94C	PRSS48_uc011cig.1_Intron	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	epidermis-specific serine protease-like protein	94	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)	1						CTCAAGGAAACGTGTGAAGTA	0.473													T	152203364	C	T	152203364	3	4	158	1	0	0	0	0	1	0	0	0	12630	536	19	1	290	1	PRSS48	4	152203364	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	698597	152203364	38950912	775	84556											
FHDC1	85462	broad.mit.edu	37	chr4	153896924	153896925	+	Frame_Shift_Ins	INS	-	-	C													cctccaaccctacatccagcINSccccctggggaggctcctgc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:153896923_153896924G>GC	uc003inf.2	+	10	2555_2556	c.2480_2481G>GC	c.(2479-2481)agcfs	p.S827fs		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	827					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CCTACATCCAGCCCCCCTGGGG	0.634													C	153896925	-	C	153896924	7	5	158	1	0	1	1	0	0	0	0	0	5876	738	26	0	2523	0	FHDC1	4	153896924	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	1693560	153896924	37257352	776	84557											
DCHS2	54798	broad.mit.edu	37	chr4	155226011	155226011	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggacaatgaagggaaTcccccatctcgtactagtac	10	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:155226011T>C	uc003inw.2	-	17	4050	c.4050A>G	c.(4048-4050)GGA>GGG	p.G1350G		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1350	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGAAGGGAATCCCCCATCTC	0.413													C	155226011	T	C	155226011	2	2	158	1	0	0	0	0	0	0	0	1	4288	1422	50	3		3	DCHS2	4	155226011	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1329087	155226011	35928265	777	84558											
DCHS2	54798	broad.mit.edu	37	chr4	155254535	155254535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcacaaccacgggctgcGtctcgtgatccaggggcttc	13	13	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:155254535G>A	uc003inw.2	-	9	1328	c.1328C>T	c.(1327-1329)ACG>ATG	p.T443M	DCHS2_uc003inx.2_Missense_Mutation_p.T942M	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	443	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CACGGGCTGCGTCTCGTGATC	0.587													A	155254535	G	A	155254535	3	1	158	1	0	0	0	0	1	0	0	0	4288	1145	40	1	7586	1	DCHS2	4	155254535	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	28524	155254535	35899741	778	84559											
FGA	2243	broad.mit.edu	37	chr4	155507817	155507817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaactccattctcatctgcGgcatgtctgttaatgccttc	6	13	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:155507817G>A	uc003iod.1	-	5	822	c.764C>T	c.(763-765)CCG>CTG	p.P255L	FGA_uc003ioe.1_Missense_Mutation_p.P255L|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	255	By similarity.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCTCATCTGCGGCATGTCTGT	0.493													A	155507817	G	A	155507817	3	1	158	1	0	0	0	0	1	0	0	0	5830	1116	39	1	1888	1	FGA	4	155507817	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	253282	155507817	35646459	779	84560											
ACCN5	51802	broad.mit.edu	37	chr4	156759985	156759985	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagtacaggagaaacacagCtgaagtacttttgtaggtca	10	7	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:156759985C>A	uc003ipe.1	-	7	1093	c.1046G>T	c.(1045-1047)AGC>ATC	p.S349I		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	amiloride-sensitive cation channel 5,	349	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)		AGAAACACAGCTGAAGTACTT	0.279													A	156759985	C	A	156759985	3	1	158	1	0	0	0	0	1	0	0	0	132	797	28	5	487	5	ACCN5	4	156759985	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1252168	156759985	34394291	780	84561											
PDGFC	56034	broad.mit.edu	37	chr4	157688934	157688934	+	Frame_Shift_Del	DEL	T	T	-													tgtatacctacctcgtggtaTtttttagtaactttgcttgg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:157688934delT	uc003iph.1	-	5	1403	c.912delA	c.(910-912)AAAfs	p.K304fs	PDGFC_uc003ipi.1_Frame_Shift_Del_p.K141fs|PDGFC_uc011cis.1_Frame_Shift_Del_p.K141fs|PDGFC_uc011cir.1_Frame_Shift_Del_p.K148fs	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	platelet-derived growth factor C precursor	304					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			ovary(1)|lung(1)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CCTCGTGGTATTTTTTAGTAA	0.393													-	157688934	T	-	157688934	7	5	158	1	0	1	0	1	0	0	0	0	11659	1490	52	0	133	0	PDGFC	4	157688934	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	928949	157688934	33465342	781	84562											
RAPGEF2	9693	broad.mit.edu	37	chr4	160271353	160271353	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaggaagtttggaacgTcacaagaaacaggctgaaga	13	5	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:160271353T>C	uc003iqg.3	+	20	3604	c.3294T>C	c.(3292-3294)CGT>CGC	p.R1098R		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	1098					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GTTTGGAACGTCACAAGAAAC	0.338													C	160271353	T	C	160271353	2	2	158	1	0	0	0	0	0	0	0	1	13044	1654	58	3		3	RAPGEF2	4	160271353	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	2582419	160271353	30882923	782	84563											
NPY1R	4886	broad.mit.edu	37	chr4	164246901	164246902	+	Frame_Shift_Ins	INS	-	-	TA													ttgtttctcctttttaggcgINStatatatatctatggaagaa							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:164246901_164246902insTA	uc003iqm.1	-	3	974_975	c.708_709insTA	c.(706-711)ATACGCfs	p.I236fs	NPY1R_uc011cjj.1_5'UTR	NM_000909	NP_000900	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	236_237	Cytoplasmic (Potential).				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			lung(1)|pancreas(1)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTTTTTAGGCGTATATATATCT	0.322													TA	164246902	-	TA	164246901	7	5	158	1	0	1	1	0	0	0	0	0	10608	1145	40	0	449	0	NPY1R	4	164246901	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	3975548	164246901	26907375	783	84564											
ODZ3	55714	broad.mit.edu	37	chr4	183664473	183664473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagttactggccccagtggCgctagcttgtgggatcgatg	14	10	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:183664473C>T	uc003ivd.1	+	18	3567	c.3530C>T	c.(3529-3531)GCG>GTG	p.A1177V	ODZ3_uc003ive.1_Missense_Mutation_p.A583V	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1177	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GCCCCAGTGGCGCTAGCTTGT	0.517													T	183664473	C	T	183664473	3	4	158	1	0	0	0	0	1	0	0	0	10836	768	27	1	3600	1	ODZ3	4	183664473	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	19417572	183664473	7489803	784	84565											
CLDN22	53842	broad.mit.edu	37	chr4	184241061	184241061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactctctccaattctcaaaCagtccaggccaaacccagag	6	15	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:184241061C>T	uc010isa.1	-	1	867	c.311G>A	c.(310-312)TGT>TAT	p.C104Y	WWC2_uc010irx.2_3'UTR|WWC2_uc003ivk.3_3'UTR|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_3'UTR|WWC2_uc003ivn.3_3'UTR|WWC2_uc010irz.2_3'UTR|WWC2_uc003ivo.3_3'UTR	NM_001111319	NP_001104789	Q8N7P3	CLD22_HUMAN	claudin 22	104	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AATTCTCAAACAGTCCAGGCC	0.552													T	184241061	C	T	184241061	3	4	158	1	0	0	0	0	1	0	0	0	3483	478	17	4	355	4	CLDN22	4	184241061	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	576588	184241061	6913215	785	84566											
ING2	3622	broad.mit.edu	37	chr4	184432040	184432040	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtattgcccaaagtgcaggGgagataatgagaaaacaatg	13	5	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:184432040G>T	uc003ivs.1	+	2	907	c.778G>T	c.(778-780)GGA>TGA	p.G260*	ING2_uc011ckk.1_Nonsense_Mutation_p.G220*	NM_001564	NP_001555	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	260	PHD-type.				chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding			ovary(1)	1		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AAAGTGCAGGGGAGATAATGA	0.373													T	184432040	G	T	184432040	4	4	158	1	0	0	0	0	0	1	0	0	7736	1233	43	5	784	5	ING2	4	184432040	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	190979	184432040	6722236	786	84567											
STOX2	56977	broad.mit.edu	37	chr4	184931902	184931902	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggggtgaaaaagctctcCccttctgataggcaggtccc	12	11	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:184931902C>T	uc003ivz.1	+	3	3346	c.1911C>T	c.(1909-1911)TCC>TCT	p.S637S	STOX2_uc003iwa.1_Silent_p.S326S	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	storkhead box 2	637					embryo development|maternal placenta development						0		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AAAAGCTCTCCCCTTCTGATA	0.602													T	184931902	C	T	184931902	2	4	158	1	0	0	0	0	0	0	0	1	15319	610	22	4		4	STOX2	4	184931902	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	499862	184931902	6222374	787	84568											
IRF2	3660	broad.mit.edu	37	chr4	185309954	185309954	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgggtgatatccgatgttttCttgatgacgctggcccgggt	14	8	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:185309954C>T	uc003iwf.3	-	9	1208	c.1008G>A	c.(1006-1008)AAG>AAA	p.K336K		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	336					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CCGATGTTTTCTTGATGACGC	0.572													T	185309954	C	T	185309954	2	4	158	1	0	0	0	0	0	0	0	1	7828	912	32	4		4	IRF2	4	185309954	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	378052	185309954	5844322	788	84569											
MLF1IP	79682	broad.mit.edu	37	chr4	185652122	185652122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttctttgaacgtcttgcGctattaaacagcaaaaaaac	7	8	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:185652122G>A	uc003iwq.2	-	2	118	c.48C>T	c.(46-48)GGC>GGT	p.G16G	MLF1IP_uc003iwp.2_RNA|MLF1IP_uc003iwr.1_Silent_p.G16G	NM_024629	NP_078905	Q71F23	CENPU_HUMAN	MLF1 interacting protein	16	Nuclear localization signal (Potential).				CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm					0		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		AACGTCTTGCGCTATTAAACA	0.318													A	185652122	G	A	185652122	2	1	158	1	0	0	0	0	0	0	0	1	9615	1101	38	1		1	MLF1IP	4	185652122	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	342168	185652122	5502154	789	84570											
MTNR1A	4543	broad.mit.edu	37	chr4	187454960	187454960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaccctggctgtacagagCgagactataattctcctgta	8	11	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:187454960C>T	uc003izd.1	-	2	954	c.936G>A	c.(934-936)TCG>TCA	p.S312S		NM_005958	NP_005949	P48039	MTR1A_HUMAN	melatonin receptor 1A	312	Cytoplasmic (Potential).				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	CTGTACAGAGCGAGACTATAA	0.443													T	187454960	C	T	187454960	2	4	158	1	0	0	0	0	0	0	0	1	9951	755	27	1		1	MTNR1A	4	187454960	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1802838	187454960	3699316	790	84571											
FAT1	2195	broad.mit.edu	37	chr4	187541000	187541000	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctcagcttatatgccgggTgggcctcaaagtccagagga	13	10	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:187541000T>C	uc003izf.2	-	10	6928	c.6740A>G	c.(6739-6741)CAC>CGC	p.H2247R		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2247	Extracellular (Potential).|Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ATATGCCGGGTGGGCCTCAAA	0.473										HNSCC(5;0.00058)			C	187541000	T	C	187541000	3	2	158	1	0	0	0	0	1	0	0	0	5689	1696	59	3	7098	3	FAT1	4	187541000	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	86040	187541000	3613276	791	84572											
FAT1	2195	broad.mit.edu	37	chr4	187628340	187628340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctctcgatccagagggCgtgcgatgttaacaacaccc	11	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:187628340C>T	uc003izf.2	-	2	2830	c.2642G>A	c.(2641-2643)CGC>CAC	p.R881H	FAT1_uc010iso.1_Missense_Mutation_p.R881H	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	881	Extracellular (Potential).|Cadherin 7.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ATCCAGAGGGCGTGCGATGTT	0.512										HNSCC(5;0.00058)			T	187628340	C	T	187628340	3	4	158	1	0	0	0	0	1	0	0	0	5689	768	27	1	11228	1	FAT1	4	187628340	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	87340	187628340	3525936	792	84573											
TRIML2	205860	broad.mit.edu	37	chr4	189026334	189026334	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgcgtgagtgactcttacCctgtaattctcagcagcctc	8	12	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:189026334C>A	uc003izl.2	-	1	75	c.39G>T	c.(37-39)AGG>AGT	p.R13S	TRIML2_uc011cle.1_Missense_Mutation_p.R63S|TRIML2_uc011clf.1_Missense_Mutation_p.R63S	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	13	Potential.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TGACTCTTACCCTGTAATTCT	0.458													A	189026334	C	A	189026334	3	1	158	1	0	0	0	0	1	0	0	0	16548	637	22	5	1152	5	TRIML2	4	189026334	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1397994	189026334	2127942	793	84574											
PLEKHG4B	153478	broad.mit.edu	37	chr5	171483	171483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgggcgagctccgagCcgccgaggtcgtggtctgct	18	12	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:171483C>T	uc003jak.2	+	14	2956	c.2906C>T	c.(2905-2907)GCC>GTC	p.A969V		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	969	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GAGCTCCGAGCCGCCGAGGTC	0.682													T	171483	C	T	171483	3	4	158	1	0	0	0	0	1	0	0	0	12072	739	26	2	2960	2	PLEKHG4B	5	171483	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08		171483	180743777	794	84575											
SLC9A3	6550	broad.mit.edu	37	chr5	476160	476160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttgatggtgaaattctgCgcagggctctccatgggcag	13	10	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:476160C>T	uc003jbe.2	-	14	2227	c.2115G>A	c.(2113-2115)GCG>GCA	p.A705A	SLC9A3_uc011clx.1_Silent_p.A696A|uc011cly.1_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	705	Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGAAATTCTGCGCAGGGCTCT	0.642													T	476160	C	T	476160	2	4	158	1	0	0	0	0	0	0	0	1	14713	755	27	1		1	SLC9A3	5	476160	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	304677	476160	180439100	795	84576											
SLC12A7	10723	broad.mit.edu	37	chr5	1085569	1085569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccgcctggaagatggccGcacccggggagatgtacgtc	14	14	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:1085569G>A	uc003jbu.2	-	7	761	c.695C>T	c.(694-696)GCG>GTG	p.A232V		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	232	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GAAGATGGCCGCACCCGGGGA	0.697													A	1085569	G	A	1085569	3	1	158	1	0	0	0	0	1	0	0	0	14388	1087	38	1	2628	1	SLC12A7	5	1085569	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	609409	1085569	179829691	796	84577											
MRPL36	64979	broad.mit.edu	37	chr5	1798783	1798783	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgggttttacagtagacGtaccaccgaccccgcctctt	10	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:1798783G>A	uc003jcx.3	-	2	330	c.267C>T	c.(265-267)TAC>TAT	p.Y89Y	NDUFS6_uc003jcy.2_5'Flank	NM_032479	NP_115868	Q9P0J6	RM36_HUMAN	mitochondrial ribosomal protein L36 precursor	89					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome				0				GBM - Glioblastoma multiforme(108;0.241)		TACAGTAGACGTACCACCGAC	0.542													A	1798783	G	A	1798783	2	1	158	1	0	0	0	0	0	0	0	1	9799	1140	40	1		1	MRPL36	5	1798783	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	713214	1798783	179116477	797	84578											
MRPL36	64979	broad.mit.edu	37	chr5	1798827	1798827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtaacagtccttgcagcGcttcttaaggacagtcttgt	10	10	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:1798827G>A	uc003jcx.3	-	2	286	c.223C>T	c.(223-225)CGC>TGC	p.R75C	NDUFS6_uc003jcy.2_5'Flank	NM_032479	NP_115868	Q9P0J6	RM36_HUMAN	mitochondrial ribosomal protein L36 precursor	75					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome				0				GBM - Glioblastoma multiforme(108;0.241)		TCCTTGCAGCGCTTCTTAAGG	0.577													A	1798827	G	A	1798827	3	1	158	1	0	0	0	0	1	0	0	0	9799	1087	38	1	92	1	MRPL36	5	1798827	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	44	1798827	179116433	798	84579											
NSUN2	54888	broad.mit.edu	37	chr5	6600055	6600055	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcaccggggtggatggAcccccgccgggtcacagcct	14	16	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:6600055A>G	uc003jdu.2	-	19	2353	c.2288T>C	c.(2287-2289)GTC>GCC	p.V763A	NSUN2_uc003jds.2_Missense_Mutation_p.V209A|NSUN2_uc003jdt.2_Missense_Mutation_p.V527A|NSUN2_uc011cmk.1_Missense_Mutation_p.V728A|NSUN2_uc003jdv.2_Missense_Mutation_p.V527A	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	763						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1						GGGTGGATGGACCCCCGCCGG	0.612													G	6600055	A	G	6600055	3	3	158	1	0	0	0	0	1	0	0	0	10678	275	10	3	19	3	NSUN2	5	6600055	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	4801228	6600055	174315205	799	84580											
PAPD7	11044	broad.mit.edu	37	chr5	6754921	6754921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggccacacccaaggcggcGgctacagctctgtgggtagc	14	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:6754921G>A	uc003jdx.1	+	13	1621	c.1492G>A	c.(1492-1494)GGC>AGC	p.G498S	PAPD7_uc011cmn.1_Missense_Mutation_p.G488S|PAPD7_uc010itl.1_Missense_Mutation_p.G318S	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	498					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			ovary(1)	1						CCAAGGCGGCGGCTACAGCTC	0.602													A	6754921	G	A	6754921	3	1	158	1	0	0	0	0	1	0	0	0	11426	1116	39	1	1538	1	PAPD7	5	6754921	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	154866	6754921	174160339	800	84581											
C5orf49	134121	broad.mit.edu	37	chr5	7851036	7851036	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttggggtccaggcgccgCggcgggatgtagctgaaggc	18	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:7851036C>T	uc003jea.3	-	1	229	c.99G>A	c.(97-99)CCG>CCA	p.P33P		NM_001089584	NP_001083053	A4QMS7	CE049_HUMAN	hypothetical protein LOC134121	33											0						CCAGGCGCCGCGGCGGGATGT	0.657													T	7851036	C	T	7851036	2	4	158	1	0	0	0	0	0	0	0	1	2307	755	27	1		1	C5orf49	5	7851036	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1096115	7851036	173064224	801	84582											
FASTKD3	79072	broad.mit.edu	37	chr5	7867447	7867447	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaatatcctccggggtaaaTgtttccaatttttcaccttg	6	10	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:7867447T>C	uc003jeb.2	-	2	887	c.750A>G	c.(748-750)ACA>ACG	p.T250T	FASTKD3_uc011cmp.1_5'UTR|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	250					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4						CCGGGGTAAATGTTTCCAATT	0.353													C	7867447	T	C	7867447	2	2	158	1	0	0	0	0	0	0	0	1	5687	1451	51	3		3	FASTKD3	5	7867447	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	16411	7867447	173047813	802	84583											
MTRR	4552	broad.mit.edu	37	chr5	7883316	7883316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatccagtttttcaagtgCcaatttcaaaggcagttcaa	7	9	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:7883316C>T	uc003jed.2	+	6	940	c.910C>T	c.(910-912)CCA>TCA	p.P304S	MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Missense_Mutation_p.P277S|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	methionine synthase reductase isoform 2	304	FAD-binding FR-type.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TTTTCAAGTGCCAATTTCAAA	0.368													T	7883316	C	T	7883316	3	4	158	1	0	0	0	0	1	0	0	0	9961	739	26	2	932	2	MTRR	5	7883316	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	15869	7883316	173031944	803	84584											
CCT5	22948	broad.mit.edu	37	chr5	10261696	10261696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccatcgcaacaggagggCggatcgtccccaggttctca	12	13	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:10261696C>T	uc003jeq.2	+	8	1189	c.1018C>T	c.(1018-1020)CGG>TGG	p.R340W	CCT5_uc011cmq.1_Missense_Mutation_p.R187W|CCT5_uc003jer.2_Missense_Mutation_p.R340W|CCT5_uc010its.2_Missense_Mutation_p.R340W|CCT5_uc011cmr.1_Missense_Mutation_p.R285W|CCT5_uc011cms.1_Missense_Mutation_p.R302W|CCT5_uc011cmt.1_Missense_Mutation_p.R247W	NM_012073	NP_036205	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	340					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			ovary(2)	2						AACAGGAGGGCGGATCGTCCC	0.502													T	10261696	C	T	10261696	3	4	158	1	0	0	0	0	1	0	0	0	2956	759	27	1	1048	1	CCT5	5	10261696	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2378380	10261696	170653564	804	84585											
MARCH6	10299	broad.mit.edu	37	chr5	10417411	10417411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttgatagttgcggtgctGttggctggagttgtccctct	13	8	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:10417411G>A	uc003jet.1	+	22	2361	c.2178G>A	c.(2176-2178)CTG>CTA	p.L726L	MARCH6_uc011cmu.1_Silent_p.L678L|MARCH6_uc003jeu.1_Silent_p.L424L|MARCH6_uc011cmv.1_Silent_p.L621L	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	726	Helical; (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						TTGCGGTGCTGTTGGCTGGAG	0.468													A	10417411	G	A	10417411	2	1	158	1	0	0	0	0	0	0	0	1	9305	1364	48	4		4	MARCH6	5	10417411	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	155715	10417411	170497849	805	84586											
ROPN1L	83853	broad.mit.edu	37	chr5	10461379	10461379	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcgcatccccttcaagacGttttcctacgtttaccgcta	6	15	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:10461379G>A	uc003jex.3	+	4	772	c.501G>A	c.(499-501)ACG>ACA	p.T167T		NM_031916	NP_114122	Q96C74	ROP1L_HUMAN	ropporin 1-like	167					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			ovary(1)	1						CCTTCAAGACGTTTTCCTACG	0.542													A	10461379	G	A	10461379	2	1	158	1	0	0	0	0	0	0	0	1	13525	1132	40	1		1	ROPN1L	5	10461379	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	43968	10461379	170453881	806	84587											
CTNND2	1501	broad.mit.edu	37	chr5	11384837	11384837	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctcctgcgagtgcttgcTgtactgctcggacgcgtgga	14	12	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:11384837T>C	uc003jfa.1	-	7	1262	c.1117A>G	c.(1117-1119)AGC>GGC	p.S373G	CTNND2_uc010itt.2_Missense_Mutation_p.S282G|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	373					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						GAGTGCTTGCTGTACTGCTCG	0.682													C	11384837	T	C	11384837	3	2	158	1	0	0	0	0	1	0	0	0	4020	1580	55	3	2624	3	CTNND2	5	11384837	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	923458	11384837	169530423	807	84588											
DNAH5	1767	broad.mit.edu	37	chr5	13817685	13817685	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcttaatgttttcctccaAagcgtagaaaatatcccatc	5	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:13817685A>G	uc003jfd.2	-	42	7002	c.6960T>C	c.(6958-6960)CTT>CTC	p.L2320L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2320	AAA 2 (By similarity).				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)					TTTTCCTCCAAAGCGTAGAAA	0.393									Kartagener_syndrome				G	13817685	A	G	13817685	2	3	158	1	0	0	0	0	0	0	0	1	4604	1	1	3		3	DNAH5	5	13817685	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	2432848	13817685	167097575	808	84589											
TRIO	7204	broad.mit.edu	37	chr5	14481681	14481681	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtcatgtgcatagtacccaGgcggtgcaacgacatgatga	12	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:14481681G>T	uc003jff.2	+	45	6425	c.6419G>T	c.(6418-6420)AGG>ATG	p.R2140M	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.R1789M	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2140	DH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					ATAGTACCCAGGCGGTGCAAC	0.507													T	14481681	G	T	14481681	3	4	158	1	0	0	0	0	1	0	0	0	16549	1000	35	5	6597	5	TRIO	5	14481681	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	663996	14481681	166433579	809	84590											
TRIO	7204	broad.mit.edu	37	chr5	14488155	14488156	+	Frame_Shift_Ins	INS	-	-	C													tctctcggcaaggagcccttINScccccccagcagccccctgc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:14488155_14488156insC	uc003jff.2	+	48	7424_7425	c.7418_7419insC	c.(7417-7419)TTCfs	p.F2473fs	TRIO_uc003jfg.2_Intron|TRIO_uc003jfh.1_Frame_Shift_Ins_p.F2122fs	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2473					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					AAGGAGCCCTTCCCCCCCAGCA	0.743													C	14488156	-	C	14488155	7	5	158	1	0	1	1	0	0	0	0	0	16549	1783	62	0	7608	0	TRIO	5	14488155	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	6474	14488155	166427105	810	84591											
FBXL7	23194	broad.mit.edu	37	chr5	15936669	15936669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacatgacggactgcttcGtgctggaggacgaaggcctg	16	9	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:15936669G>A	uc003jfn.1	+	4	1331	c.850G>A	c.(850-852)GTG>ATG	p.V284M		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	284	LRR 5.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						GGACTGCTTCGTGCTGGAGGA	0.622													A	15936669	G	A	15936669	3	1	158	1	0	0	0	0	1	0	0	0	5724	1145	40	1	864	1	FBXL7	5	15936669	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1448514	15936669	164978591	811	84592											
CDH18	1016	broad.mit.edu	37	chr5	19473529	19473529	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcataagggggaacgctagGgtctaggtctgcttctgcca	14	9	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:19473529G>T	uc003jgc.2	-	12	2556	c.2179C>A	c.(2179-2181)CCT>ACT	p.P727T	CDH18_uc003jgd.2_Missense_Mutation_p.P727T|CDH18_uc011cnm.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	727	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GGAACGCTAGGGTCTAGGTCT	0.483													T	19473529	G	T	19473529	3	4	158	1	0	0	0	0	1	0	0	0	3103	1232	43	5	197	5	CDH18	5	19473529	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3536860	19473529	161441731	812	84593											
PRDM9	56979	broad.mit.edu	37	chr5	23527496	23527496	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcacacctcctcagacacCagaggacacacacaggggag	10	14	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:23527496C>T	uc003jgo.2	+	11	2481	c.2299C>T	c.(2299-2301)CAG>TAG	p.Q767*		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	767	C2H2-type 10.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						CCTCAGACACCAGAGGACACA	0.577										HNSCC(3;0.000094)			T	23527496	C	T	23527496	4	4	158	1	0	0	0	0	0	1	0	0	12463	595	21	4	2337	4	PRDM9	5	23527496	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	4053967	23527496	157387764	813	84594											
PDZD2	23037	broad.mit.edu	37	chr5	32098574	32098574	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactggctggcttagcccaCgggaatgtcctgaaggttct	12	11	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:32098574C>T	uc003jhl.2	+	23	8440	c.8052C>T	c.(8050-8052)CAC>CAT	p.H2684H	PDZD2_uc003jhm.2_Silent_p.H2684H|PDZD2_uc003jhn.2_5'Flank	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	2684	PDZ 5.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GCTTAGCCCACGGGAATGTCC	0.592													T	32098574	C	T	32098574	2	4	158	1	0	0	0	0	0	0	0	1	11701	535	19	1		1	PDZD2	5	32098574	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	8571078	32098574	148816686	814	84595											
ZFR	51663	broad.mit.edu	37	chr5	32379276	32379276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagaggtctcgaagaatgCgtatgataatcacacaggac	11	8	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:32379276C>T	uc003jhr.1	-	17	2860	c.2780G>A	c.(2779-2781)CGC>CAC	p.R927H	ZFR_uc010ium.1_Missense_Mutation_p.R58H|ZFR_uc011cny.1_RNA	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	927	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)		TCGAAGAATGCGTATGATAAT	0.383													T	32379276	C	T	32379276	3	4	158	1	0	0	0	0	1	0	0	0	17656	768	27	1	460	1	ZFR	5	32379276	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	280702	32379276	148535984	815	84596											
RXFP3	51289	broad.mit.edu	37	chr5	33937524	33937524	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatctgggctttggccgcgCtggcctcgctgcccagtgcc	15	15	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:33937524C>T	uc003jic.1	+	1	1036	c.679C>T	c.(679-681)CTG>TTG	p.L227L		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	227	Helical; Name=4; (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						TTTGGCCGCGCTGGCCTCGCT	0.682													T	33937524	C	T	33937524	2	4	158	1	0	0	0	0	0	0	0	1	13761	796	28	2		2	RXFP3	5	33937524	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1558248	33937524	146977736	816	84597											
RXFP3	51289	broad.mit.edu	37	chr5	33938214	33938214	+	Frame_Shift_Del	DEL	G	G	-													ctggcgtcgtggtctacagcGgggggcgctacgacctgctg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:33938213_33938213CG>C	uc003jic.2	+	0	1723	c.1368_1368CG>C	c.(1366-1368)agcfs	p.S456fs		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 3 (RXFP3), mRNA.	456						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TGGTCTACAGCGGGGGGCGCT	0.741													-	33938214	G	-	33938214	7	5	158	1	0	1	0	1	0	0	0	0	13761	1116	39	0	1371	0	RXFP3	5	33938214	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	690	33938214	146977046	817	84598											
IL7R	3575	broad.mit.edu	37	chr5	35876542	35876544	+	In_Frame_Del	DEL	AAG	AAG	-													tacttccctgggatcaaatcAagaagaagcatatgtcacca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:35876541_35876543CAAG>C	uc003jjs.3	+	7	1422_1424	c.1333_1335CAAG>C	c.(1333-1335)caa>C	p.Q445del	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	445					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GGGATCAAATCAAGAAGAAGCAT	0.463			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						-	35876544	AAG	-	35876542	7	5	158	1	0	1	0	1	0	0	0	0	7705	130	5	0	1364	0	IL7R	5	35876542	In_Frame_Del	DEL	AAG	TCGA-CD-A4MG-01A-11D-A25D-08	1938328	35876542	145038718	818	84599											
LMBRD2	92255	broad.mit.edu	37	chr5	36142606	36142606	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaaaaaggaaatacctTggaacagggttagcagttgc	10	5	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:36142606T>C	uc003jkb.1	-	3	685	c.270A>G	c.(268-270)CCA>CCG	p.P90P		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	90	Extracellular (Potential).					integral to membrane					0	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAAATACCTTGGAACAGGGT	0.338													C	36142606	T	C	36142606	2	2	158	1	0	0	0	0	0	0	0	1	8843	1799	63	3		3	LMBRD2	5	36142606	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	266064	36142606	144772654	819	84600											
C5orf42	65250	broad.mit.edu	37	chr5	37108533	37108534	+	Frame_Shift_Ins	INS	-	-	T													caagcccagcacttccatgtINSttttttgtatgctgcagact							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:37108532_37108533G>GT	uc011cpa.1	-	50	9510_9511	c.9279_9280C>AC	c.(9277-9282)aaacatfs	p.K3093fs	C5orf42_uc003jko.1_Frame_Shift_Ins_p.K124fs|C5orf42_uc003jkp.1_Non-coding_Transcript|C5orf42_uc011coy.1_Frame_Shift_Ins_p.K1611fs|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Frame_Shift_Ins_p.K2186fs	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	3093										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GCACTTCCATGTTTTTTTGTAT	0.431													T	37108534	-	T	37108533	7	5	158	1	0	1	1	0	0	0	0	0	2301	1722	60	0	322	0	C5orf42	5	37108533	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	965927	37108533	143806727	820	84601											
C5orf42	65250	broad.mit.edu	37	chr5	37169374	37169374	+	Frame_Shift_Del	DEL	A	A	-													ttggttgtggcaaaggcctgAagggaacttgtggaatactt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:37169373_37169373GA>G	uc011cpa.1	-	33	6984	c.6753_6753TC>C	c.(6751-6753)ttcfs	p.F2251fs	C5orf42_uc011coy.1_Frame_Shift_Del_p.F751fs|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Frame_Shift_Del_p.F1326fs|C5orf42_uc003jkr.1_Frame_Shift_Del_p.F284fs	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2251										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GCAAAGGCCTGAAGGGAACTT	0.458													-	37169374	A	-	37169374	7	5	158	1	0	1	0	1	0	0	0	0	2301	246	9	0	2917	0	C5orf42	5	37169374	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	60841	37169374	143745886	821	84602											
WDR70	55100	broad.mit.edu	37	chr5	37721216	37721216	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cactgcgcttttcctttgcaGagtgttgttcgctgcctgtg	11	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:37721216G>A	uc003jkv.2	+	14	1475	c.1417_splice	c.e14-1	p.S473_splice		NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70											ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCCTTTGCAGAGTGTTGTTC	0.438													A	37721216	G	A	37721216	5	1	158	1	0	0	0	0	0	0	1	0	17318	956	33	4	1470	4	WDR70	5	37721216	Splice_Site	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	551842	37721216	143194044	822	84603											
EGFLAM	133584	broad.mit.edu	37	chr5	38258945	38258945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcgctccgagcggccatccGaaaaccaggtaatgcgctcc	11	15	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:38258945G>A	uc003jlc.1	+	1	413	c.89G>A	c.(88-90)CGA>CAA	p.R30Q	EGFLAM_uc003jlb.1_Missense_Mutation_p.R30Q	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	30						cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					GCGGCCATCCGAAAACCAGGT	0.706													A	38258945	G	A	38258945	3	1	158	1	0	0	0	0	1	0	0	0	4966	1058	37	1	91	1	EGFLAM	5	38258945	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	537729	38258945	142656315	823	84604											
OSMR	9180	broad.mit.edu	37	chr5	38925463	38925463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacgaaggtcacgactccGgatgaacactgtgagttttc	10	10	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:38925463G>A	uc003jln.1	+	15	2569	c.2202G>A	c.(2200-2202)CCG>CCA	p.P734P	OSMR_uc011cpj.1_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	734	Extracellular (Potential).				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)					TCACGACTCCGGATGAACACT	0.438													A	38925463	G	A	38925463	2	1	158	1	0	0	0	0	0	0	0	1	11292	1103	39	1		1	OSMR	5	38925463	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	666518	38925463	141989797	824	84605											
RICTOR	253260	broad.mit.edu	37	chr5	38945715	38945715	+	Frame_Shift_Del	DEL	A	A	-													cagtgtcttctgtactttctAaaaacagagaggcatctgaa							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:38945714_38945714TA>T	uc003jlo.2	-	34	4606	c.4584_4584TA>A	c.(4582-4584)ttafs	p.L1528fs	RICTOR_uc003jlp.2_Frame_Shift_Del_p.L1504fs|RICTOR_uc010ivf.2_Splice_Site_p.E1182_splice	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1504					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTGTACTTTCTAAAAACAGAG	0.393													-	38945715	A	-	38945715	7	5	158	1	0	1	0	1	0	0	0	0	13358	372	13	0	635	0	RICTOR	5	38945715	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	20252	38945715	141969545	825	84606											
FYB	2533	broad.mit.edu	37	chr5	39202427	39202427	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattcttcatggggctttcGtcttcatgggagttctcggt	11	9	5	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:39202427G>A	uc003jls.2	-	1	703	c.636C>T	c.(634-636)GAC>GAT	p.D212D	FYB_uc003jlt.2_Silent_p.D212D|FYB_uc003jlu.2_Silent_p.D212D|FYB_uc011cpl.1_Silent_p.D222D	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2	212					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGGGCTTTCGTCTTCATGGG	0.527													A	39202427	G	A	39202427	2	1	158	1	0	0	0	0	0	0	0	1	6124	1136	40	1		1	FYB	5	39202427	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	256712	39202427	141712833	826	84607											
ITGA2	3673	broad.mit.edu	37	chr5	52351982	52351982	+	Splice_Site	DEL	A	A	-													aaattttcagcattgaaggtAaaaaaaataacctcctttca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:52351981_52351981TA>T	uc003joy.3	+	9	1239	c.1096_splice	c.e9+2	p.G366_splice	ITGA2_uc011cqa.2_Splice_Site|ITGA2_uc011cqb.2_Splice_Site|ITGA2_uc011cqc.2_Splice_Site_p.G290_splice|ITGA2_uc011cqd.2_Splice_Site|ITGA2_uc011cqe.2_Splice_Site	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	366					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GCATTGAAGGTAAAAAAAATA	0.294													-	52351982	A	-	52351982	8	5	158	1	0	1	0	1	0	0	1	0	7875	377	13	0		0	ITGA2	5	52351982	Splice_Site	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	13149555	52351982	128563278	827	84608											
HSPB3	8988	broad.mit.edu	37	chr5	53751767	53751767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacctgaggaaaaccaggGcagcgcagtctcctccagtg	13	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:53751767G>A	uc003jph.1	+	1	323	c.148G>A	c.(148-150)GCA>ACA	p.A50T		NM_006308	NP_006299	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	50					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus					0		Lung NSC(810;0.00104)				GAAAACCAGGGCAGCGCAGTC	0.572													A	53751767	G	A	53751767	3	1	158	1	0	0	0	0	1	0	0	0	7421	1203	42	2	150	2	HSPB3	5	53751767	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1399785	53751767	127163493	828	84609											
DHX29	54505	broad.mit.edu	37	chr5	54585098	54585098	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatcttcccttaattttacCtttctcttcttcagtagcag	3	13	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:54585098C>A	uc003jpx.2	-	8	1186	c.1066G>T	c.(1066-1068)GAT>TAT	p.D356Y	DHX29_uc010ivw.2_RNA	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	356				D -> G (in Ref. 1; AAK64516).			ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTAATTTTACCTTTCTCTTCT	0.323													A	54585098	C	A	54585098	3	1	158	1	0	0	0	0	1	0	0	0	4503	695	24	5	3123	5	DHX29	5	54585098	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	833331	54585098	126330162	829	84610											
DDX4	54514	broad.mit.edu	37	chr5	55081584	55081584	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgacctacataccccctcCtccacctgaggatgaggact	8	15	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:55081584C>A	uc003jqg.3	+	13	823	c.749C>A	c.(748-750)CCT>CAT	p.P250H	DDX4_uc010ivz.2_Missense_Mutation_p.P230H|DDX4_uc003jqh.3_Missense_Mutation_p.P216H|DDX4_uc003jqj.2_Missense_Mutation_p.P101H	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform	250					multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|skin(1)	2		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ATACCCCCTCCTCCACCTGAG	0.378													A	55081584	C	A	55081584	3	1	158	1	0	0	0	0	1	0	0	0	4360	681	24	5	836	5	DDX4	5	55081584	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	496486	55081584	125833676	830	84611											
ERCC8	1161	broad.mit.edu	37	chr5	60186878	60186878	+	Frame_Shift_Del	DEL	T	T	-													gagacagtgaatttcaatccTtttttactgttattacaaac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:60186878delT	uc003jsm.3	-	10	949	c.879delA	c.(877-879)AAAfs	p.K293fs	ERCC8_uc003jsk.2_RNA|ERCC8_uc003jsl.3_Frame_Shift_Del_p.K235fs|ERCC8_uc011cqp.1_Frame_Shift_Del_p.K140fs	NM_000082	NP_000073	Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent	293					positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding				0		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				ATTTCAATCCTTTTTTACTGT	0.338								Direct_reversal_of_damage|NER					-	60186878	T	-	60186878	7	5	158	1	0	1	0	1	0	0	0	0	5219	1606	56	0	323	0	ERCC8	5	60186878	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	5105294	60186878	120728382	831	84612											
FLJ37543	285668	broad.mit.edu	37	chr5	60982782	60982782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattactccaaattgccccGcactgcgatagagacagagt	9	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:60982782G>A	uc003jst.1	+	3	185	c.110G>A	c.(109-111)CGC>CAC	p.R37H	uc003jsu.1_Intron|uc010iwo.1_Intron|uc003jsv.2_Intron	NM_173667	NP_775938	Q2M2E5	CE064_HUMAN	hypothetical protein LOC285668 precursor	37						extracellular region					0		Lung NSC(810;0.000468)|Prostate(74;0.0283)|Breast(144;0.237)				AAATTGCCCCGCACTGCGATA	0.438													A	60982782	G	A	60982782	3	1	158	1	0	0	0	0	1	0	0	0	5929	1087	38	1	116	1	FLJ37543	5	60982782	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	795904	60982782	119932478	832	84613											
HTR1A	3350	broad.mit.edu	37	chr5	63256965	63256965	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggtggaatagatagtgtaGccatgatccttgctaatggt	12	5	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:63256965G>T	uc011cqt.1	-	1	582	c.582C>A	c.(580-582)GGC>GGA	p.G194G		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	194	Helical; Name=5; (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGATAGTGTAGCCATGATCCT	0.582													T	63256965	G	T	63256965	2	4	158	1	0	0	0	0	0	0	0	1	7436	958	34	5		5	HTR1A	5	63256965	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2274183	63256965	117658295	833	84614											
RNF180	285671	broad.mit.edu	37	chr5	63509748	63509748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgaagaacgaaaaactgCtgtccaaagcatcagaacca	8	9	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:63509748C>T	uc003jti.2	+	4	705	c.595C>T	c.(595-597)CTG>TTG	p.L199L	RNF180_uc003jth.3_Silent_p.L199L|RNF180_uc010iws.2_Intron	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN	ring finger protein 180 isoform 1	199	Cytoplasmic (Potential).					integral to membrane|nuclear envelope	zinc ion binding				0		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		CGAAAAACTGCTGTCCAAAGC	0.418													T	63509748	C	T	63509748	2	4	158	1	0	0	0	0	0	0	0	1	13464	796	28	2		2	RNF180	5	63509748	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	252783	63509748	117405512	834	84615											
SGTB	54557	broad.mit.edu	37	chr5	64976614	64976614	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatttattcaaggcagtgaGggccagcctgaagggaatag	13	6	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:64976614G>T	uc003jud.2	-	7	707	c.487C>A	c.(487-489)CTC>ATC	p.L163I		NM_019072	NP_061945	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat	163	TPR 4.						binding				0		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		AAGGCAGTGAGGGCCAGCCTG	0.358													T	64976614	G	T	64976614	3	4	158	1	0	0	0	0	1	0	0	0	14226	1000	35	5	447	5	SGTB	5	64976614	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1466866	64976614	115938646	835	84616											
SFRS12	140890	broad.mit.edu	37	chr5	65458074	65458074	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagatgaaattaggagaacGgtttatgttggaaatctgaa	11	2	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:65458074G>A	uc003juo.2	+	5	861	c.201G>A	c.(199-201)ACG>ACA	p.T67T	SFRS12_uc003jun.2_Silent_p.T183T|SFRS12_uc010iwy.2_Silent_p.T67T	NM_139168	NP_631907	Q8WXA9	SREK1_HUMAN	splicing factor, arginine/serine-rich 12 isoform	67	RRM.				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding				0		Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234)		Lung(70;0.00449)		TTAGGAGAACGGTTTATGTTG	0.398													A	65458074	G	A	65458074	2	1	158	1	0	0	0	0	0	0	0	1	14167	1103	39	1		1	SFRS12	5	65458074	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	481460	65458074	115457186	836	84617											
MAST4	375449	broad.mit.edu	37	chr5	66448644	66448644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttaccatccgagccatcCgggtgtatgtgggagacagt	13	10	0	1	rs77194622		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:66448644C>T	uc003jut.1	+	24	2976	c.2908C>T	c.(2908-2910)CGG>TGG	p.R970W	MAST4_uc003juw.2_Missense_Mutation_p.R898W	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1162	PDZ.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCGAGCCATCCGGGTGTATGT	0.527													T	66448644	C	T	66448644	3	4	158	1	0	0	0	0	1	0	0	0	9327	643	23	1	3703	1	MAST4	5	66448644	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	990570	66448644	114466616	837	84618											
MAST4	375449	broad.mit.edu	37	chr5	66459063	66459063	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccggcccagcactctccaCggtcttgcacccaaactcgg	8	18	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:66459063C>T	uc003jut.1	+	28	3557	c.3489C>T	c.(3487-3489)CAC>CAT	p.H1163H	MAST4_uc003juw.2_Silent_p.H1091H|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1355						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCACTCTCCACGGTCTTGCAC	0.647													T	66459063	C	T	66459063	2	4	158	1	0	0	0	0	0	0	0	1	9327	535	19	1		1	MAST4	5	66459063	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	10419	66459063	114456197	838	84619											
MAST4	375449	broad.mit.edu	37	chr5	66461066	66461066	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatctcctctctgtgggaaGgacccacccagatttctata	7	12	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:66461066G>T	uc003jut.1	+	28	5560	c.5492G>T	c.(5491-5493)AGG>ATG	p.R1831M	MAST4_uc003juw.2_Missense_Mutation_p.R1759M|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	2023						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCTGTGGGAAGGACCCACCCA	0.562													T	66461066	G	T	66461066	3	4	158	1	0	0	0	0	1	0	0	0	9327	1000	35	5	6303	5	MAST4	5	66461066	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2003	66461066	114454194	839	84620											
MAST4	375449	broad.mit.edu	37	chr5	66462750	66462750	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacagaacgtgggcagagaCgtgaccaagccatccccagc	11	13	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:66462750C>T	uc003jut.1	+	28	7244	c.7176C>T	c.(7174-7176)GAC>GAT	p.D2392D	MAST4_uc003juw.2_Silent_p.D2320D|MAST4_uc003jux.2_Silent_p.D145D	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	2584						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TGGGCAGAGACGTGACCAAGC	0.597													T	66462750	C	T	66462750	2	4	158	1	0	0	0	0	0	0	0	1	9327	535	19	1		1	MAST4	5	66462750	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1684	66462750	114452510	840	84621											
OCLN	4950	broad.mit.edu	37	chr5	68805099	68805099	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttctacaaatggacctctcCtccaggagtgattcggatcc	8	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:68805099C>A	uc003jwu.2	+	3	618	c.182C>A	c.(181-183)CCT>CAT	p.P61H	OCLN_uc003jwv.3_Missense_Mutation_p.P61H	NM_002538	NP_002529			occludin												0		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TGGACCTCTCCTCCAGGAGTG	0.478													A	68805099	C	A	68805099	3	1	158	1	0	0	0	0	1	0	0	0	10820	681	24	5	188	5	OCLN	5	68805099	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2342349	68805099	112110161	841	84622											
BDP1	55814	broad.mit.edu	37	chr5	70806644	70806644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaagggaaaaggtgctagCagagttcagtgctataaggg	14	6	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:70806644C>T	uc003kbp.1	+	17	3988	c.3725C>T	c.(3724-3726)GCA>GTA	p.A1242V	BDP1_uc003kbn.1_Missense_Mutation_p.A1242V|BDP1_uc003kbo.2_Missense_Mutation_p.A1242V	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1242	Potential.|9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.|8; approximate.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGGTGCTAGCAGAGTTCAGT	0.408													T	70806644	C	T	70806644	3	4	158	1	0	0	0	0	1	0	0	0	1395	710	25	2	3791	2	BDP1	5	70806644	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2001545	70806644	110108616	842	84623											
ZNF366	167465	broad.mit.edu	37	chr5	71757207	71757207	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccgggaaggggtgtctttgGggagcctttccccgagaagc	16	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:71757207G>T	uc003kce.1	-	2	303	c.117C>A	c.(115-117)CCC>CCA	p.P39P		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGTGTCTTTGGGGAGCCTTTC	0.577													T	71757207	G	T	71757207	2	4	158	1	0	0	0	0	0	0	0	1	17867	1219	43	5		5	ZNF366	5	71757207	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	950563	71757207	109158053	843	84624											
TNPO1	3842	broad.mit.edu	37	chr5	72178958	72178958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acggccacgttttcaccgatCgaggacggtggctcagcagc	13	13	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:72178958C>T	uc003kck.3	+	11	1196	c.1049C>T	c.(1048-1050)TCG>TTG	p.S350L	TNPO1_uc011csi.1_RNA|TNPO1_uc011csj.1_Missense_Mutation_p.S300L|TNPO1_uc003kch.2_Missense_Mutation_p.S342L|TNPO1_uc003kci.3_Missense_Mutation_p.S342L|TNPO1_uc003kcg.3_Missense_Mutation_p.S342L	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	350					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TTTCACCGATCGAGGACGGTG	0.353													T	72178958	C	T	72178958	3	4	158	1	0	0	0	0	1	0	0	0	16332	893	31	1	1091	1	TNPO1	5	72178958	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	421751	72178958	108736302	844	84625											
ENC1	8507	broad.mit.edu	37	chr5	73932218	73932218	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattcaggtgagtgaggacGctgtcagcgtaggaggactt	16	6	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:73932218G>A	uc003kdc.3	-	2	1224	c.93C>T	c.(91-93)AGC>AGT	p.S31S	ENC1_uc011css.1_Intron	NM_003633	NP_003624	O14682	ENC1_HUMAN	ectodermal-neural cortex (with BTB-like domain)	31					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			ovary(1)|pancreas(1)|skin(1)	3		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GAGTGAGGACGCTGTCAGCGT	0.537													A	73932218	G	A	73932218	2	1	158	1	0	0	0	0	0	0	0	1	5113	1078	38	1		1	ENC1	5	73932218	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1753260	73932218	106983042	845	84626											
NSA2	10412	broad.mit.edu	37	chr5	74066523	74066523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaagtattaaaagttattcGaacaggaaagagaaagaaga	10	2	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:74066523G>A	uc003kdk.1	+	4	493	c.410G>A	c.(409-411)CGA>CAA	p.R137Q		NM_014886	NP_055701	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog	137	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex				ovary(1)	1						AAAGTTATTCGAACAGGAAAG	0.373													A	74066523	G	A	74066523	3	1	158	1	0	0	0	0	1	0	0	0	10668	1058	37	1	424	1	NSA2	5	74066523	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	134305	74066523	106848737	846	84627											
POLK	51426	broad.mit.edu	37	chr5	74889775	74889775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcatctacagtttcatctGttgtttctactgcagaagaa	8	8	4	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:74889775G>A	uc003kdw.2	+	12	1525	c.1429G>A	c.(1429-1431)GTT>ATT	p.V477I	POLK_uc003kdx.2_Intron|POLK_uc003kdy.2_Intron|POLK_uc010izq.2_Intron|POLK_uc003kec.2_Missense_Mutation_p.V387I|POLK_uc010izr.2_RNA|POLK_uc010izs.2_Intron|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Missense_Mutation_p.V387I	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	477					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AGTTTCATCTGTTGTTTCTAC	0.323								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	74889775	G	A	74889775	3	1	158	1	0	0	0	0	1	0	0	0	12204	1377	48	4	1471	4	POLK	5	74889775	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	823252	74889775	106025485	847	84628											
IQGAP2	10788	broad.mit.edu	37	chr5	75989261	75989261	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagagacaccagcaactgcGcaacaggtaatttgacttta	8	9	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:75989261G>A	uc003kek.2	+	31	4209	c.3987G>A	c.(3985-3987)GCG>GCA	p.A1329A	IQGAP2_uc011csv.1_Silent_p.A825A|IQGAP2_uc003kel.2_Silent_p.A825A|IQGAP2_uc010izw.1_Silent_p.A30A	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1329					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)		CAGCAACTGCGCAACAGGTAA	0.363													A	75989261	G	A	75989261	2	1	158	1	0	0	0	0	0	0	0	1	7815	1074	38	1		1	IQGAP2	5	75989261	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1099486	75989261	104925999	848	84629											
PDE8B	8622	broad.mit.edu	37	chr5	76717790	76717790	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcattgaatgggctgggaggAtctctgaggagtattttgca	15	5	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:76717790A>G	uc003kfa.2	+	20	2440	c.2395A>G	c.(2395-2397)ATC>GTC	p.I799V	PDE8B_uc003kfb.2_Missense_Mutation_p.I779V|PDE8B_uc003kfc.2_Missense_Mutation_p.I744V|PDE8B_uc003kfd.2_Missense_Mutation_p.I752V|PDE8B_uc003kfe.2_Missense_Mutation_p.I702V	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	799	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GGCTGGGAGGATCTCTGAGGA	0.537													G	76717790	A	G	76717790	3	3	158	1	0	0	0	0	1	0	0	0	11654	333	12	3	2473	3	PDE8B	5	76717790	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	728529	76717790	104197470	849	84630											
AP3B1	8546	broad.mit.edu	37	chr5	77424993	77424993	+	Frame_Shift_Del	DEL	T	T	-													aggcttttgtgctaggaataTttttttggcatatttactta							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:77424993delT	uc003kfj.2	-	16	1914	c.1789delA	c.(1789-1791)ATAfs	p.I597fs		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	597					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GCTAGGAATATTTTTTTGGCA	0.328									Hermansky-Pudlak_syndrome				-	77424993	T	-	77424993	7	5	158	1	0	1	0	1	0	0	0	0	744	1493	52	0	1543	0	AP3B1	5	77424993	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	707203	77424993	103490267	850	84631											
THBS4	7060	broad.mit.edu	37	chr5	79355648	79355648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccgaggtgtccaatgtaccGacagtagagatggcttccag	12	10	0	1	rs34249634	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:79355648G>A	uc003kgh.2	+	8	1230	c.907G>A	c.(907-909)GAC>AAC	p.D303N		NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	303	EGF-like 1.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CCAATGTACCGACAGTAGAGA	0.587													A	79355648	G	A	79355648	3	1	158	1	0	0	0	0	1	0	0	0	15853	1058	37	1	933	1	THBS4	5	79355648	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1930655	79355648	101559612	851	84632											
ZFYVE16	9765	broad.mit.edu	37	chr5	79733418	79733418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaagtgctttgacctgcaGccttccgaaaaatgaagatt	9	9	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:79733418G>A	uc003kgr.3	+	4	1216	c.914G>A	c.(913-915)AGC>AAC	p.S305N	ZFYVE16_uc010jak.1_Missense_Mutation_p.S305N|ZFYVE16_uc003kgp.2_Missense_Mutation_p.S305N|ZFYVE16_uc003kgq.3_Missense_Mutation_p.S305N|ZFYVE16_uc003kgs.3_Missense_Mutation_p.S305N	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	305					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity				0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TTGACCTGCAGCCTTCCGAAA	0.358													A	79733418	G	A	79733418	3	1	158	1	0	0	0	0	1	0	0	0	17661	971	34	2	920	2	ZFYVE16	5	79733418	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	377770	79733418	101181842	852	84633											
VCAN	1462	broad.mit.edu	37	chr5	82834123	82834123	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagctacatctagtgattcAggtaccaggaaaagttttat	9	6	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:82834123A>G	uc003kii.3	+	8	5657	c.5301A>G	c.(5299-5301)TCA>TCG	p.S1767S	VCAN_uc003kij.3_Silent_p.S780S|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.S431S	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1767	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTAGTGATTCAGGTACCAGGA	0.358													G	82834123	A	G	82834123	2	3	158	1	0	0	0	0	0	0	0	1	17135	175	7	3		3	VCAN	5	82834123	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	3100705	82834123	98081137	853	84634											
GPR98	84059	broad.mit.edu	37	chr5	89981753	89981753	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tatcaatgtgactagaacagGaggagcatttgcagatgtct	11	6	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:89981753G>T	uc003kju.2	+	29	6527	c.6431G>T	c.(6430-6432)GGA>GTA	p.G2144V	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2144	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACTAGAACAGGAGGAGCATTT	0.418													T	89981753	G	T	89981753	3	4	158	1	0	0	0	0	1	0	0	0	6721	1174	41	5	6545	5	GPR98	5	89981753	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	7147630	89981753	90933507	854	84635											
GLRX	2745	broad.mit.edu	37	chr5	95158219	95158219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgttagtgtggttggtggCtgtgatatcgacaaattcca	12	7	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:95158219C>T	uc003klo.3	-	1	359	c.148G>A	c.(148-150)GCC>ACC	p.A50T	GLRX_uc003kln.3_Missense_Mutation_p.A50T	NM_001118890	NP_001112362	P35754	GLRX1_HUMAN	glutaredoxin (thioltransferase)	50	Glutaredoxin.				cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport	cytosol	electron carrier activity|glutathione disulfide oxidoreductase activity|protein disulfide oxidoreductase activity|protein N-terminus binding				0		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;2.62e-16)	Glutathione(DB00143)	TGGTTGGTGGCTGTGATATCG	0.493													T	95158219	C	T	95158219	3	4	158	1	0	0	0	0	1	0	0	0	6459	797	28	2	180	2	GLRX	5	95158219	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	5176466	95158219	85757041	855	84636											
RIOK2	55781	broad.mit.edu	37	chr5	96498868	96498868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctcctttctgcaatcgaCgtctgacagctgatttttgc	7	12	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:96498868C>T	uc003kmz.2	-	10	1666	c.1556G>A	c.(1555-1557)CGT>CAT	p.R519H		NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	RIO kinase 2 isoform 1	519	Protein kinase.						ATP binding|protein serine/threonine kinase activity			kidney(1)	1		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CTGCAATCGACGTCTGACAGC	0.378													T	96498868	C	T	96498868	3	4	158	1	0	0	0	0	1	0	0	0	13378	536	19	1	106	1	RIOK2	5	96498868	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1340649	96498868	84416392	856	84637											
SLCO6A1	133482	broad.mit.edu	37	chr5	101709039	101709039	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgacaatgtgtaattcttAcacaatgatgatccagttac	6	7	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:101709039A>G	uc003knn.2	-	13	2347	c.2175_splice	c.e13+1		SLCO6A1_uc003kno.2_Splice_Site|SLCO6A1_uc003knp.2_Splice_Site|SLCO6A1_uc003knq.2_Splice_Site	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,							integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGTAATTCTTACACAATGATG	0.264													G	101709039	A	G	101709039	5	3	158	1	0	0	0	0	0	0	1	0	14732	405	14	3		3	SLCO6A1	5	101709039	Splice_Site	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	5210171	101709039	79206221	857	84638											
MAN2A1	4124	broad.mit.edu	37	chr5	109181595	109181595	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatgacactgagcaaattGcctcttcaagcaaatgtcta	7	9	3	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:109181595G>A	uc003kou.1	+	18	3693	c.2730G>A	c.(2728-2730)TTG>TTA	p.L910L		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	910	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TGAGCAAATTGCCTCTTCAAG	0.388													A	109181595	G	A	109181595	2	1	158	1	0	0	0	0	0	0	0	1	9214	1310	46	2		2	MAN2A1	5	109181595	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	7472556	109181595	71733665	858	84639											
APC	324	broad.mit.edu	37	chr5	112176452	112176452	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgacaataaagcagaggaaGgtgatattcttgcagaatgc	11	5	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:112176452G>T	uc010jby.2	+	16	5541	c.5161G>T	c.(5161-5163)GGT>TGT	p.G1721C	APC_uc011cvt.1_Missense_Mutation_p.G1703C|APC_uc003kpz.3_Missense_Mutation_p.G1721C|APC_uc003kpy.3_Missense_Mutation_p.G1721C|APC_uc010jbz.2_Missense_Mutation_p.G1438C|APC_uc010jca.2_Missense_Mutation_p.G1021C	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1721	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGCAGAGGAAGGTGATATTCT	0.428		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			T	112176452	G	T	112176452	3	4	158	1	0	0	0	0	1	0	0	0	763	1000	35	5	5219	5	APC	5	112176452	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2994857	112176452	68738808	859	84640											
TSSK1B	83942	broad.mit.edu	37	chr5	112770511	112770511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccccaggaggtagcctcgtCgcttgaggacagcagcgtca	13	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:112770511C>T	uc003kqm.2	-	1	218	c.26G>A	c.(25-27)CGA>CAA	p.R9Q	MCC_uc003kql.3_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1	9					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|skin(2)|stomach(1)	5		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GTAGCCTCGTCGCTTGAGGAC	0.552													T	112770511	C	T	112770511	3	4	158	1	0	0	0	0	1	0	0	0	16665	884	31	1	1081	1	TSSK1B	5	112770511	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	594059	112770511	68144749	860	84641											
AQPEP	206338	broad.mit.edu	37	chr5	115298780	115298780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttccaggactgcgagcgcGccgaggtgcggggacccctt	15	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:115298780G>A	uc003kro.2	+	1	630	c.466G>A	c.(466-468)GCC>ACC	p.A156T	AQPEP_uc003krp.2_RNA|uc003krn.1_5'UTR	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	156	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						CTGCGAGCGCGCCGAGGTGCG	0.672													A	115298780	G	A	115298780	3	1	158	1	0	0	0	0	1	0	0	0	834	1087	38	1	468	1	AQPEP	5	115298780	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2528269	115298780	65616480	861	84642											
DMXL1	1657	broad.mit.edu	37	chr5	118433791	118433791	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtagactgttcaatgcaaCaaggcaaggtttgtaatctt	10	6	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:118433791C>T	uc003ksd.2	+	2	386	c.205C>T	c.(205-207)CAA>TAA	p.Q69*	DMXL1_uc010jcl.1_Nonsense_Mutation_p.Q69*|DMXL1_uc003ksc.1_Nonsense_Mutation_p.Q69*	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	69										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTCAATGCAACAAGGCAAGGT	0.338													T	118433791	C	T	118433791	4	4	158	1	0	0	0	0	0	1	0	0	4594	479	17	4	211	4	DMXL1	5	118433791	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	3135011	118433791	62481469	862	84643											
PRR16	51334	broad.mit.edu	37	chr5	119800237	119800237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccagccgagggaccgcCggcagcctccaaaaccaagg	12	16	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:119800237C>T	uc003ksq.2	+	1	219	c.56C>T	c.(55-57)CCG>CTG	p.P19L	PRR16_uc003ksp.2_5'UTR	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	proline rich 16	19										pancreas(2)|ovary(1)	3		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GAGGGACCGCCGGCAGCCTCC	0.592													T	119800237	C	T	119800237	3	4	158	1	0	0	0	0	1	0	0	0	12589	667	23	1		1	PRR16	5	119800237	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1366446	119800237	61115023	863	84644											
LOX	4015	broad.mit.edu	37	chr5	121413257	121413257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgctgtctggttctccgCgcgcgaggcgccagcttcgc	15	16	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:121413257C>T	uc003ksu.2	-	1	799	c.424G>A	c.(424-426)GCG>ACG	p.A142T	LOX_uc010jcq.2_5'Flank|LOX_uc011cwk.1_5'Flank|LOX_uc010jcr.2_5'Flank	NM_002317	NP_002308	P28300	LYOX_HUMAN	lysyl oxidase preproprotein	142					protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			lung(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		TGGTTCTCCGCGCGCGAGGCG	0.682													T	121413257	C	T	121413257	3	4	158	1	0	0	0	0	1	0	0	0	8898	768	27	1	857	1	LOX	5	121413257	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1613020	121413257	59502003	864	84645											
SLC22A4	6583	broad.mit.edu	37	chr5	131679466	131679466	+	Frame_Shift_Del	DEL	A	A	-													ttttcaggttcagatctgggAaaaaaacaagagactcaatg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:131679465_131679465GA>G	uc003kwq.3	+	9	1758	c.1593_1593GA>G	c.(1591-1593)gggfs	p.G531fs	LOC553103_uc021ydj.1_Intron	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	Homo sapiens solute carrier family 22 (organic cation/ergothioneine transporter), member 4 (SLC22A4), mRNA.	531					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|PDZ domain binding|carnitine transporter activity|cation:cation antiporter activity|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TCAGATCTGGGAAAAAAACAA	0.323													-	131679466	A	-	131679466	7	5	158	1	0	1	0	1	0	0	0	0	14456	247	9	0	1632	0	SLC22A4	5	131679466	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	10266209	131679466	49235794	865	84646											
FSTL4	23105	broad.mit.edu	37	chr5	132537666	132537668	+	In_Frame_Del	DEL	ATC	ATC	-													tttgttgggggaatgaagaaAtcatccactcctgcaaaggg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:132537666_132537668delATC	uc003kyn.1	-	15	2001_2003	c.1783_1785delGAT	c.(1783-1785)GATdel	p.D595del	FSTL4_uc003kym.1_In_Frame_Del_p.D244del	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4 precursor	595						extracellular region	calcium ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAATGAAGAAATCATCCACTCCT	0.571													-	132537668	ATC	-	132537666	7	5	158	1	0	1	0	1	0	0	0	0	6079	98	4	0	751	0	FSTL4	5	132537666	In_Frame_Del	DEL	ATC	TCGA-CD-A4MG-01A-11D-A25D-08	858200	132537666	48377594	866	84647											
PHF15	23338	broad.mit.edu	37	chr5	133914473	133914473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaccaccaccgcaggaCgggcctggttcacggacgac	11	18	1	0	rs115890725	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:133914473C>T	uc003kzo.1	+	11	2018	c.1839C>T	c.(1837-1839)GAC>GAT	p.D613D	PHF15_uc011cxt.1_Silent_p.D657D|PHF15_uc003kzk.2_Silent_p.D673D|PHF15_uc003kzm.2_Silent_p.D614D|PHF15_uc003kzn.2_3'UTR	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	613	Pro-rich.				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACCGCAGGACGGGCCTGGTT	0.672													T	133914473	C	T	133914473	2	4	158	1	0	0	0	0	0	0	0	1	11826	535	19	1		1	PHF15	5	133914473	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1376807	133914473	47000787	867	84648											
SPOCK1	6695	broad.mit.edu	37	chr5	136448205	136448205	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcttgcacttgaccaaattCgaaggtccaacccagtgttt	9	11	0	1	rs144155642		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:136448205C>T	uc003lbo.2	-	4	584	c.393G>A	c.(391-393)TCG>TCA	p.S131S	SPOCK1_uc003lbp.2_Silent_p.S131S	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	131	Kazal-like.				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGACCAAATTCGAAGGTCCAA	0.493													T	136448205	C	T	136448205	2	4	158	1	0	0	0	0	0	0	0	1	15078	871	31	1		1	SPOCK1	5	136448205	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2533732	136448205	44467055	868	84649											
SPOCK1	6695	broad.mit.edu	37	chr5	136834106	136834106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccggtcgtactgggagaCggtgctcagccactggtcat	14	12	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:136834106C>T	uc003lbo.2	-	1	333	c.142G>A	c.(142-144)GTC>ATC	p.V48I	SPOCK1_uc003lbp.2_Missense_Mutation_p.V48I	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	48					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TACTGGGAGACGGTGCTCAGC	0.682													T	136834106	C	T	136834106	3	4	158	1	0	0	0	0	1	0	0	0	15078	536	19	1	1217	1	SPOCK1	5	136834106	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	385901	136834106	44081154	869	84650											
GFRA3	2676	broad.mit.edu	37	chr5	137593558	137593558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagtggggcccggagcaCgcctccccgtaggccttgcg	16	15	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:137593558C>T	uc003lcn.2	-	4	695	c.555G>A	c.(553-555)GCG>GCA	p.A185A	GFRA3_uc003lco.2_Silent_p.A154A	NM_001496	NP_001487	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3 preproprotein	185					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCCGGAGCACGCCTCCCCGT	0.652													T	137593558	C	T	137593558	2	4	158	1	0	0	0	0	0	0	0	1	6349	523	19	1		1	GFRA3	5	137593558	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	759452	137593558	43321702	870	84651											
FAM53C	51307	broad.mit.edu	37	chr5	137680703	137680703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagagaagcttcctgtgcCccctgcccctccatccaaga	7	18	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:137680703C>T	uc003lcv.2	+	4	796	c.326C>T	c.(325-327)CCC>CTC	p.P109L	FAM53C_uc003lcw.2_Missense_Mutation_p.P109L|FAM53C_uc011cyq.1_Intron|FAM53C_uc011cyr.1_Intron	NM_001135647	NP_001129119	Q9NYF3	FA53C_HUMAN	hypothetical protein LOC51307	109										ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTTCCTGTGCCCCCTGCCCCT	0.662													T	137680703	C	T	137680703	3	4	158	1	0	0	0	0	1	0	0	0	5581	623	22	4	336	4	FAM53C	5	137680703	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	87145	137680703	43234557	871	84652											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139909369	139909369	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccttcccagcgagtttctActagtccagttggtaagtta	8	11	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:139909369A>G	uc003lfs.1	+	29	6962	c.6838A>G	c.(6838-6840)ACT>GCT	p.T2280A	ANKHD1_uc003lfr.2_Missense_Mutation_p.T2280A|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.T1019A|ANKHD1_uc003lfw.2_Missense_Mutation_p.T918A|ANKHD1_uc010jfl.2_Missense_Mutation_p.T715A|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.T417A	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2280						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGTTTCTACTAGTCCAGT	0.458													G	139909369	A	G	139909369	3	3	158	1	0	0	0	0	1	0	0	0	629	391	14	3	6952	3	ANKHD1-EIF4EBP3	5	139909369	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	2228666	139909369	41005891	872	84653											
PCDHA8	56140	broad.mit.edu	37	chr5	140222372	140222372	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacgcgcaggagaacgcgcTggtgtcctactcgcttgtgg	16	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140222372T>G	uc003lhs.2	+	1	1466	c.1466T>G	c.(1465-1467)CTG>CGG	p.L489R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.L489R	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	489	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACGCGCTGGTGTCCTAC	0.667													G	140222372	T	G	140222372	3	3	158	1	0	0	0	0	1	0	0	0	11530	1580	55	5	1468	5	PCDHA8	5	140222372	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	313003	140222372	40692888	873	84654											
PCDHB5	26167	broad.mit.edu	37	chr5	140516534	140516534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctccctggtctccatcaaCgcggacaacggccacctgtt	9	17	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140516534C>T	uc003liq.2	+	1	1735	c.1518C>T	c.(1516-1518)AAC>AAT	p.N506N		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	506	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCCATCAACGCGGACAACG	0.687													T	140516534	C	T	140516534	2	4	158	1	0	0	0	0	0	0	0	1	11545	535	19	1		1	PCDHB5	5	140516534	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	294162	140516534	40398726	874	84655											
PCDHB7	56129	broad.mit.edu	37	chr5	140553206	140553206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggttccatggttgtctccGtgtcagccagagatttagat	11	8	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140553206G>A	uc003lit.2	+	1	964	c.790G>A	c.(790-792)GTG>ATG	p.V264M		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	264	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTTGTCTCCGTGTCAGCCAG	0.463													A	140553206	G	A	140553206	3	1	158	1	0	0	0	0	1	0	0	0	11547	1145	40	1	792	1	PCDHB7	5	140553206	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	36672	140553206	40362054	875	84656											
PCDHB16	57717	broad.mit.edu	37	chr5	140564126	140564126	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacgtgctcctggtggaCggcttctcccagcccttcct	10	17	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140564126C>T	uc003liv.2	+	1	3147	c.1992C>T	c.(1990-1992)GAC>GAT	p.D664D	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	664	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGGTGGACGGCTTCTCCC	0.701													T	140564126	C	T	140564126	2	4	158	1	0	0	0	0	0	0	0	1	11541	535	19	1		1	PCDHB16	5	140564126	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	10920	140564126	40351134	876	84657											
PCDHB10	56126	broad.mit.edu	37	chr5	140572634	140572634	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttaacggtatccaaaactAcacgatcagccccaactctt	4	14	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140572634A>G	uc003lix.2	+	1	683	c.509A>G	c.(508-510)TAC>TGC	p.Y170C		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	170	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCCAAAACTACACGATCAGC	0.423													G	140572634	A	G	140572634	3	3	158	1	0	0	0	0	1	0	0	0	11535	391	14	3	511	3	PCDHB10	5	140572634	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	8508	140572634	40342626	877	84658											
PCDHB13	56123	broad.mit.edu	37	chr5	140595829	140595829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcctgttcgtggcggtgCggctgtgtaggaggagcagg	19	8	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140595829C>T	uc003lja.1	+	1	2321	c.2134C>T	c.(2134-2136)CGG>TGG	p.R712W		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	712	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGGCGGTGCGGCTGTGTAG	0.667													T	140595829	C	T	140595829	3	4	158	1	0	0	0	0	1	0	0	0	11538	759	27	1	2136	1	PCDHB13	5	140595829	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	23195	140595829	40319431	878	84659											
PCDHB14	56122	broad.mit.edu	37	chr5	140603872	140603872	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctggattgccaccatctcAgctaaggatctggatgcagg	11	11	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140603872A>G	uc003ljb.2	+	1	795	c.795A>G	c.(793-795)TCA>TCG	p.S265S	PCDHB14_uc011dal.1_Silent_p.S112S	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	265	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACCATCTCAGCTAAGGATC	0.423													G	140603872	A	G	140603872	2	3	158	1	0	0	0	0	0	0	0	1	11539	175	7	3		3	PCDHB14	5	140603872	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	8043	140603872	40311388	879	84660											
PCDHB15	56121	broad.mit.edu	37	chr5	140625174	140625174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcaggggagcgctttcccGaacaaaggcaagtcctgatt	12	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140625174G>A	uc003lje.2	+	1	28	c.28G>A	c.(28-30)GAA>AAA	p.E10K		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	10					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCTTTCCCGAACAAAGGCA	0.542													A	140625174	G	A	140625174	3	1	158	1	0	0	0	0	1	0	0	0	11540	1059	37	1	30	1	PCDHB15	5	140625174	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	21302	140625174	40290086	880	84661											
PCDHB15	56121	broad.mit.edu	37	chr5	140626763	140626763	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccacagaccgcggcttcccGgcgctgagcagcgaggcgct	15	16	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140626763G>T	uc003lje.2	+	1	1617	c.1617G>T	c.(1615-1617)CCG>CCT	p.P539P		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	539	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGCTTCCCGGCGCTGAGCA	0.672													T	140626763	G	T	140626763	2	4	158	1	0	0	0	0	0	0	0	1	11540	1103	39	5		5	PCDHB15	5	140626763	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1589	140626763	40288497	881	84662											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712347	140712347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtggtggcggcggccgCggtctcctgcgtcttcctgg	17	14	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140712347C>T	uc003lji.1	+	1	2096	c.2096C>T	c.(2095-2097)GCG>GTG	p.A699V	PCDHGA1_uc011dan.1_Missense_Mutation_p.A699V	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	699	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGCGGCCGCGGTCTCCTGC	0.662													T	140712347	C	T	140712347	3	4	158	1	0	0	0	0	1	0	0	0	11550	768	27	1	2098	1	PCDHGA1	5	140712347	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	85584	140712347	40202913	882	84663											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720428	140720428	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaggtgcgcacggcgcgAgccctgctggacagagacgc	18	13	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140720428A>G	uc003ljk.1	+	1	2075	c.1890A>G	c.(1888-1890)CGA>CGG	p.R630R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.R630R	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	630	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACGGCGCGAGCCCTGCTGG	0.692													G	140720428	A	G	140720428	2	3	158	1	0	0	0	0	0	0	0	1	11554	291	11	3		3	PCDHGA2	5	140720428	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	8081	140720428	40194832	883	84664											
PCDHGA3	56112	broad.mit.edu	37	chr5	140723736	140723736	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagataaaggttccttcgtgGgcaacatcgctaacgacctg	10	10	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140723736G>T	uc003ljm.1	+	1	136	c.136G>T	c.(136-138)GGC>TGC	p.G46C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.G46C	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	46	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCTTCGTGGGCAACATCGC	0.617											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	140723736	G	T	140723736	3	4	158	1	0	0	0	0	1	0	0	0	11555	1232	43	5	138	5	PCDHGA3	5	140723736	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3308	140723736	40191524	884	84665											
PCDHGA3	56112	broad.mit.edu	37	chr5	140724818	140724818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatattaccgcttagtgacGgccacatccctggaccgcga	9	14	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140724818G>A	uc003ljm.1	+	1	1218	c.1218G>A	c.(1216-1218)ACG>ACA	p.T406T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.T166T|PCDHGA3_uc011dap.1_Silent_p.T406T	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	406	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTAGTGACGGCCACATCCC	0.463													A	140724818	G	A	140724818	2	1	158	1	0	0	0	0	0	0	0	1	11555	1103	39	1		1	PCDHGA3	5	140724818	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1082	140724818	40190442	885	84666											
PCDHGA4	56111	broad.mit.edu	37	chr5	140735596	140735596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaaggagccaatggagacGtgacgtattctttccggaaa	12	7	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140735596G>A	uc003ljq.1	+	1	829	c.829G>A	c.(829-831)GTG>ATG	p.V277M	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.V277M	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	277	Cadherin 3.|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)			CAATGGAGACGTGACGTATTC	0.453													A	140735596	G	A	140735596	3	1	158	1	0	0	0	0	1	0	0	0	11556	1145	40	1	831	1	PCDHGA4	5	140735596	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	10778	140735596	40179664	886	84667											
PCDHGA4	56111	broad.mit.edu	37	chr5	140736283	140736283	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctctgtcctcctatgtcTccatcaactccaatacaggg	5	16	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140736283T>G	uc003ljq.1	+	1	1516	c.1516T>G	c.(1516-1518)TCC>GCC	p.S506A	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.S506A	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	506	Extracellular (Potential).|Cadherin 5.				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)			CTCCTATGTCTCCATCAACTC	0.512													G	140736283	T	G	140736283	3	3	158	1	0	0	0	0	1	0	0	0	11556	1551	54	5	1518	5	PCDHGA4	5	140736283	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	687	140736283	40178977	887	84668											
PCDHGA8	9708	broad.mit.edu	37	chr5	140774582	140774582	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggtggcagattggtaggCgtgcctgcctcacattttgt	13	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140774582C>T	uc003lkd.1	+	1	3100	c.2202C>T	c.(2200-2202)GGC>GGT	p.G734G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Silent_p.G734G	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	734	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATTGGTAGGCGTGCCTGCCT	0.602													T	140774582	C	T	140774582	2	4	158	1	0	0	0	0	0	0	0	1	11560	755	27	1		1	PCDHGA8	5	140774582	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	38299	140774582	40140678	888	84669											
PCDHGA11	56105	broad.mit.edu	37	chr5	140800981	140800981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccgggagctggcgaagCgcggagtccgcatcgtctcc	15	15	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140800981C>T	uc003lkq.1	+	1	445	c.187C>T	c.(187-189)CGC>TGC	p.R63C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.R63C|PCDHGA11_uc003lkp.1_Missense_Mutation_p.R63C	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	63	Extracellular (Potential).|Cadherin 1.				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)			GCTGGCGAAGCGCGGAGTCCG	0.612													T	140800981	C	T	140800981	3	4	158	1	0	0	0	0	1	0	0	0	11552	768	27	1	189	1	PCDHGA11	5	140800981	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	26399	140800981	40114279	889	84670											
PCDHGA11	56105	broad.mit.edu	37	chr5	140802087	140802087	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacagaccagggaagcccGcctttgtctgcagaaactca	10	14	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140802087G>A	uc003lkq.1	+	1	1551	c.1293G>A	c.(1291-1293)CCG>CCA	p.P431P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Silent_p.P431P|PCDHGA11_uc003lkp.1_Silent_p.P431P	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	431	Extracellular (Potential).|Cadherin 4.				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)			AGGGAAGCCCGCCTTTGTCTG	0.468													A	140802087	G	A	140802087	2	1	158	1	0	0	0	0	0	0	0	1	11552	1074	38	1		1	PCDHGA11	5	140802087	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1106	140802087	40113173	890	84671											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812146	140812146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgcctggctgtcctaccGtctgctcaaggccagcgagc	12	15	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140812146G>A	uc003lkt.1	+	1	1989	c.1820G>A	c.(1819-1821)CGT>CAT	p.R607H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.R607H	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	607	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCCTACCGTCTGCTCAAG	0.697													A	140812146	G	A	140812146	3	1	158	1	0	0	0	0	1	0	0	0	11553	1145	40	1	1822	1	PCDHGA12	5	140812146	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	10059	140812146	40103114	891	84672											
PCDH1	5097	broad.mit.edu	37	chr5	141243886	141243886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctctcgatcaaagctcagGctggataggatggtgcctgt	13	9	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:141243886G>A	uc003llq.2	-	3	2127	c.2010C>T	c.(2008-2010)AGC>AGT	p.S670S	PCDH1_uc003llp.2_Silent_p.S670S|PCDH1_uc011dbf.1_Silent_p.S648S	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	670	Extracellular (Potential).|Cadherin 6.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CAAAGCTCAGGCTGGATAGGA	0.547													A	141243886	G	A	141243886	2	1	158	1	0	0	0	0	0	0	0	1	11506	1194	42	2		2	PCDH1	5	141243886	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	431740	141243886	39671374	892	84673											
KIAA0141	9812	broad.mit.edu	37	chr5	141318231	141318231	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcctctgcagaagtggGcatctcggagccagcctgga	14	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:141318231G>A	uc003lls.2	+	12	1577	c.1455G>A	c.(1453-1455)GGG>GGA	p.G485G	KIAA0141_uc003llt.2_Silent_p.G485G|KIAA0141_uc003llu.1_RNA	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	hypothetical protein LOC9812 precursor	485	TPR 7.				apoptosis|regulation of caspase activity	mitochondrion	protein binding			skin(1)	1		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGAAGTGGGCATCTCGGAG	0.592													A	141318231	G	A	141318231	2	1	158	1	0	0	0	0	0	0	0	1	8156	1190	42	2		2	KIAA0141	5	141318231	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	74345	141318231	39597029	893	84674											
PCDH12	51294	broad.mit.edu	37	chr5	141336748	141336748	+	Frame_Shift_Del	DEL	G	G	-													accaagctggtacctgacttGggggggttcccattgtcata							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:141336747_141336747TG>T	uc003llx.3	-	0	1881	c.670_670CA>A	c.(670-672)aagfs	p.K224fs		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	224	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTC	0.483													-	141336748	G	-	141336748	7	5	158	1	0	1	0	1	0	0	0	0	11510	1335	47	0	2901	0	PCDH12	5	141336748	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	18517	141336748	39578512	894	84675											
POU4F3	5459	broad.mit.edu	37	chr5	145719489	145719489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgagtcacccgcacaccGtggcccctcatagcgccatg	10	17	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:145719489G>A	uc003loa.2	+	2	588	c.499G>A	c.(499-501)GTG>ATG	p.V167M		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	167					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCGCACACCGTGGCCCCTCA	0.667													A	145719489	G	A	145719489	3	1	158	1	0	0	0	0	1	0	0	0	12280	1145	40	1	505	1	POU4F3	5	145719489	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4382741	145719489	35195771	895	84676											
POU4F3	5459	broad.mit.edu	37	chr5	145719769	145719769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaggccgaggccgcctaccGagagaagaacagcaagccag	15	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:145719769G>A	uc003loa.2	+	2	868	c.779G>A	c.(778-780)CGA>CAA	p.R260Q		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	260					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCGCCTACCGAGAGAAGAAC	0.602													A	145719769	G	A	145719769	3	1	158	1	0	0	0	0	1	0	0	0	12280	1058	37	1	785	1	POU4F3	5	145719769	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	280	145719769	35195491	896	84677											
STK32A	202374	broad.mit.edu	37	chr5	146750300	146750300	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgtaacttacccttctgcCtggtcacaggaaatggtgtc	10	10	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:146750300C>A	uc010jgn.1	+	9	1024	c.744C>A	c.(742-744)GCC>GCA	p.A248A	STK32A_uc003lom.2_Silent_p.A248A|STK32A_uc011dbw.1_Silent_p.A248A	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A isoform 1	248	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCTTCTGCCTGGTCACAGG	0.428													A	146750300	C	A	146750300	2	1	158	1	0	0	0	0	0	0	0	1	15296	668	24	5		5	STK32A	5	146750300	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1030531	146750300	34164960	897	84678											
JAKMIP2	9832	broad.mit.edu	37	chr5	147024496	147024496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttcatcgtttctcttggCgaggcacttgttcctttcca	8	12	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:147024496C>T	uc003loq.1	-	6	1382	c.1000G>A	c.(1000-1002)GCC>ACC	p.A334T	JAKMIP2_uc011dbx.1_Missense_Mutation_p.A292T|JAKMIP2_uc003lor.1_Missense_Mutation_p.A334T|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.A334T	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	334	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCTCTTGGCGAGGCACTTG	0.433													T	147024496	C	T	147024496	3	4	158	1	0	0	0	0	1	0	0	0	7941	768	27	1	1496	1	JAKMIP2	5	147024496	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	274196	147024496	33890764	898	84679											
SPINK5	11005	broad.mit.edu	37	chr5	147473960	147473961	+	Frame_Shift_Ins	INS	-	-	T													caagtgagaaatggaaggctINStttttgtacacgggagagtg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:147473959_147473960C>CT	uc003lox.2	+	8	782_783	c.709_710C>CT	c.(709-711)cttfs	p.L237fs	SPINK5_uc010jgq.1_Non-coding_Transcript|SPINK5_uc010jgs.1_Frame_Shift_Ins_p.L209fs|SPINK5_uc010jgr.2_Frame_Shift_Ins_p.L218fs|SPINK5_uc003low.2_Frame_Shift_Ins_p.L237fs|SPINK5_uc003loy.2_Frame_Shift_Ins_p.L237fs	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	237	Kazal-like 4.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGGAAGGCTTTTTTGTACA	0.371													T	147473961	-	T	147473960	7	5	158	1	0	1	1	0	0	0	0	0	15061	1609	56	0	744	0	SPINK5	5	147473960	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	449464	147473960	33441300	899	84680											
FBXO38	81545	broad.mit.edu	37	chr5	147793715	147793715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaggcagaatggctaatgcGgatctggtgaagtatggttt	14	4	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:147793715G>A	uc003lpf.1	+	10	1230	c.1110G>A	c.(1108-1110)GCG>GCA	p.A370A	FBXO38_uc003lpg.1_Silent_p.A370A|FBXO38_uc003lph.2_Silent_p.A370A	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	370						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCTAATGCGGATCTGGTGA	0.353													A	147793715	G	A	147793715	2	1	158	1	0	0	0	0	0	0	0	1	5746	1103	39	1		1	FBXO38	5	147793715	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	319755	147793715	33121545	900	84681											
ADRB2	154	broad.mit.edu	37	chr5	148207281	148207281	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcgttaacattgtgcAtgtgatccaggataacctca	7	10	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:148207281A>G	uc003lpr.1	+	1	1126	c.887A>G	c.(886-888)CAT>CGT	p.H296R	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	296	Helical; Name=6.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	AACATTGTGCATGTGATCCAG	0.468													G	148207281	A	G	148207281	3	3	158	1	0	0	0	0	1	0	0	0	341	217	8	3	889	3	ADRB2	5	148207281	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	413566	148207281	32707979	901	84682											
ABLIM3	22885	broad.mit.edu	37	chr5	148596538	148596538	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataggcaggagggaagcactAccacccaacctgtgccaggt	12	12	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:148596538A>G	uc003lpy.2	+	8	937	c.686A>G	c.(685-687)TAC>TGC	p.Y229C	ABLIM3_uc003lpz.1_Missense_Mutation_p.Y229C|ABLIM3_uc003lqa.1_Missense_Mutation_p.Y237C|ABLIM3_uc003lqb.2_Missense_Mutation_p.Y229C|ABLIM3_uc003lqc.1_Missense_Mutation_p.Y229C|ABLIM3_uc003lqd.1_Missense_Mutation_p.Y229C|ABLIM3_uc003lqf.2_Missense_Mutation_p.Y229C|ABLIM3_uc003lqe.1_Missense_Mutation_p.Y229C	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	229	LIM zinc-binding 4.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAAGCACTACCACCCAACC	0.517													G	148596538	A	G	148596538	3	3	158	1	0	0	0	0	1	0	0	0	96	391	14	3	712	3	ABLIM3	5	148596538	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	389257	148596538	32318722	902	84683											
IL17B	27190	broad.mit.edu	37	chr5	148756492	148756492	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcacctggtgagggccagGggccaggggcccaggccgcc	19	14	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:148756492G>T	uc003lqo.2	-	2	168	c.118C>A	c.(118-120)CCT>ACT	p.P40T		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	interleukin 17B precursor	40					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGGCCAGGGGCCAGGGGC	0.622													T	148756492	G	T	148756492	3	4	158	1	0	0	0	0	1	0	0	0	7635	1232	43	5	432	5	IL17B	5	148756492	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	159954	148756492	32158768	903	84684											
CSF1R	1436	broad.mit.edu	37	chr5	149433654	149433654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagaactgatagttgttgGgctgcagcaagggctgggcg	17	7	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:149433654G>A	uc003lrl.2	-	21	3092	c.2897C>T	c.(2896-2898)CCC>CTC	p.P966L	CSF1R_uc011dcd.1_3'UTR|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.P966L	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	966	Cytoplasmic (Potential).				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	ATAGTTGTTGGGCTGCAGCAA	0.517													A	149433654	G	A	149433654	3	1	158	1	0	0	0	0	1	0	0	0	3932	1232	43	4	25	4	CSF1R	5	149433654	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	677162	149433654	31481606	904	84685											
CSF1R	1436	broad.mit.edu	37	chr5	149459829	149459829	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accgggtctgtgagcagacaGggcagtagtgcgtcctggtc	16	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:149459829G>T	uc003lrl.2	-	3	573	c.378C>A	c.(376-378)CCC>CCA	p.P126P	CSF1R_uc011dcd.1_Translation_Start_Site|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Silent_p.P126P|CSF1R_uc011dce.1_Silent_p.P126P|CSF1R_uc011dcf.1_Silent_p.P126P	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	126	Extracellular (Potential).|Ig-like C2-type 2.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGAGCAGACAGGGCAGTAGTG	0.647													T	149459829	G	T	149459829	2	4	158	1	0	0	0	0	0	0	0	1	3932	987	35	5		5	CSF1R	5	149459829	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	26175	149459829	31455431	905	84686											
SLC6A7	6534	broad.mit.edu	37	chr5	149576667	149576667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctactacaacatgatcatcGcctacgtgctcttctacctc	4	15	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:149576667G>A	uc003lrr.2	+	4	783	c.412G>A	c.(412-414)GCC>ACC	p.A138T		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	138	Extracellular (Potential).					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CATGATCATCGCCTACGTGCT	0.617													A	149576667	G	A	149576667	3	1	158	1	0	0	0	0	1	0	0	0	14689	1087	38	1	426	1	SLC6A7	5	149576667	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	116838	149576667	31338593	906	84687											
SLC6A7	6534	broad.mit.edu	37	chr5	149589080	149589080	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccagtcaccaaagccactgAtggtgcacatgcgcaagtac	10	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:149589080A>T	uc003lrr.2	+	14	2184	c.1813A>T	c.(1813-1815)ATG>TTG	p.M605L		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	605	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	AAAGCCACTGATGGTGCACAT	0.632													T	149589080	A	T	149589080	3	4	158	1	0	0	0	0	1	0	0	0	14689	333	12	5	1867	5	SLC6A7	5	149589080	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	12413	149589080	31326180	907	84688											
CD74	972	broad.mit.edu	37	chr5	149786866	149786866	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatggaaaagcctgtgtaCagggctccgcggctgcactt	14	10	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:149786866C>T	uc003lsc.2	-	2	158	c.147G>A	c.(145-147)CTG>CTA	p.L49L	CD74_uc003lsb.2_5'Flank|CD74_uc003lse.2_Silent_p.L49L|CD74_uc003lsd.2_Silent_p.L49L|CD74_uc003lsf.1_Silent_p.L49L	NM_001025159	NP_001020330	P04233	HG2A_HUMAN	CD74 antigen isoform a	49	Helical; Signal-anchor for type II membrane protein; (Potential).				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCTGTGTACAGGGCTCCGC	0.512			T	ROS1	NSCLC								T	149786866	C	T	149786866	2	4	158	1	0	0	0	0	0	0	0	1	3035	465	17	4		4	CD74	5	149786866	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	197786	149786866	31128394	908	84689											
DCTN4	51164	broad.mit.edu	37	chr5	150110226	150110226	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccgtttgatcagaagatgTttgtggcgaggatagagctg	15	5	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:150110226T>C	uc003lsv.2	-	8	903	c.801A>G	c.(799-801)AAA>AAG	p.K267K	DCTN4_uc003lsu.2_Silent_p.K210K|DCTN4_uc010jhi.2_Silent_p.K274K|DCTN4_uc010jhj.2_RNA	NM_016221	NP_057305	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62) isoform b	267						centrosome|nucleus	protein N-terminus binding			central_nervous_system(1)	1		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGAAGATGTTTGTGGCGAG	0.468													C	150110226	T	C	150110226	2	2	158	1	0	0	0	0	0	0	0	1	4309	1722	60	3		3	DCTN4	5	150110226	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	323360	150110226	30805034	909	84690											
FAT2	2196	broad.mit.edu	37	chr5	150887100	150887100	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcagtaactcctgctgcccCcagtcccccctttggatctc	6	18	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:150887100C>A	uc003lue.3	-	22	12145	c.12132G>T	c.(12130-12132)TGG>TGT	p.W4044C	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.W651C	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	4044	Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGCTGCCCCCAGTCCCCCC	0.567													A	150887100	C	A	150887100	3	1	158	1	0	0	0	0	1	0	0	0	5690	624	22	5	925	5	FAT2	5	150887100	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	776874	150887100	30028160	910	84691											
FAT2	2196	broad.mit.edu	37	chr5	150924502	150924502	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggggggattgtcattgacAtcctcaatagagactctgac	11	8	3	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:150924502A>G	uc003lue.3	-	9	6199	c.6186T>C	c.(6184-6186)GAT>GAC	p.D2062D	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	2062	Extracellular (Potential).|Cadherin 17.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTCATTGACATCCTCAATAG	0.522													G	150924502	A	G	150924502	2	3	158	1	0	0	0	0	0	0	0	1	5690	214	8	3		3	FAT2	5	150924502	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	37402	150924502	29990758	911	84692											
NMUR2	56923	broad.mit.edu	37	chr5	151784353	151784353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacaagaaagggtagttgcGccacatctcatagacctcca	9	11	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:151784353G>A	uc003luv.2	-	1	488	c.322C>T	c.(322-324)CGC>TGC	p.R108C		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	108	Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGGTAGTTGCGCCACATCTCA	0.587													A	151784353	G	A	151784353	3	1	158	1	0	0	0	0	1	0	0	0	10507	1087	38	1	941	1	NMUR2	5	151784353	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	859851	151784353	29130907	912	84693											
FAM114A2	10827	broad.mit.edu	37	chr5	153414380	153414380	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttccgagtggaaactacaGgttctgatttactctctggt	9	8	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:153414380G>T	uc003lvb.2	-	2	722	c.134C>A	c.(133-135)CCT>CAT	p.P45H	FAM114A2_uc003lvc.2_Missense_Mutation_p.P45H|FAM114A2_uc003lvd.2_Missense_Mutation_p.P45H|FAM114A2_uc003lve.2_Translation_Start_Site|FAM114A2_uc011dda.1_Intron	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	hypothetical protein LOC10827	45							purine nucleotide binding				0						GGAAACTACAGGTTCTGATTT	0.458													T	153414380	G	T	153414380	3	4	158	1	0	0	0	0	1	0	0	0	5404	1000	35	5	1435	5	FAM114A2	5	153414380	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1630027	153414380	27500880	913	84694											
C5orf40	408263	broad.mit.edu	37	chr5	156770019	156770019	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaccagggggagcccctGcaggtcttcctccctctgac	10	17	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:156770019G>A	uc003lwu.2	-	2	714	c.526C>T	c.(526-528)CAG>TAG	p.Q176*	CYFIP2_uc003lwq.2_Intron|CYFIP2_uc011ddn.1_Intron|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Intron|CYFIP2_uc003lws.2_Intron|CYFIP2_uc003lwt.2_Intron|CYFIP2_uc011ddp.1_Intron	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	hypothetical protein LOC408263	176						integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGAGCCCCTGCAGGTCTTCC	0.617											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	156770019	G	A	156770019	4	1	158	1	0	0	0	0	0	1	0	0	2299	1328	46	2	152	2	C5orf40	5	156770019	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3355639	156770019	24145241	914	84695											
ADAM19	8728	broad.mit.edu	37	chr5	156917389	156917389	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtttgttgttctgtctgcaGcagtagtacatcagcatgag	11	7	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:156917389G>T	uc003lwz.2	-	19	2233	c.2169C>A	c.(2167-2169)TGC>TGA	p.C723*	ADAM19_uc003lww.1_Nonsense_Mutation_p.C456*|ADAM19_uc003lwy.2_Nonsense_Mutation_p.C322*|ADAM19_uc011ddr.1_Nonsense_Mutation_p.C654*	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	723	Cytoplasmic (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTGTCTGCAGCAGTAGTACA	0.542													T	156917389	G	T	156917389	4	4	158	1	0	0	0	0	0	1	0	0	240	963	34	5	607	5	ADAM19	5	156917389	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	147370	156917389	23997871	915	84696											
RNF145	153830	broad.mit.edu	37	chr5	158603680	158603680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagatttagcaaggttataaGgtaccaaaagattagaccca	8	7	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:158603680G>T	uc003lxp.2	-	5	894	c.581C>A	c.(580-582)CCT>CAT	p.P194H	RNF145_uc011ddy.1_Missense_Mutation_p.P208H|RNF145_uc003lxo.1_Missense_Mutation_p.P222H|RNF145_uc011ddz.1_Missense_Mutation_p.P211H|RNF145_uc010jiq.1_Missense_Mutation_p.P224H|RNF145_uc011dea.1_Missense_Mutation_p.P210H	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	194						integral to membrane	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGGTTATAAGGTACCAAAAG	0.333													T	158603680	G	T	158603680	3	4	158	1	0	0	0	0	1	0	0	0	13447	1000	35	5	1438	5	RNF145	5	158603680	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1686291	158603680	22311580	916	84697											
IL12B	3593	broad.mit.edu	37	chr5	158750309	158750309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatttctccaggggcatcCggataccaatccaattctac	6	14	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:158750309C>T	uc003lxr.1	-	3	159	c.117G>A	c.(115-117)CCG>CCA	p.P39P		NM_002187	NP_002178	P29460	IL12B_HUMAN	interleukin 12B precursor	39	Ig-like C2-type.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGGGCATCCGGATACCAAT	0.383													T	158750309	C	T	158750309	2	4	158	1	0	0	0	0	0	0	0	1	7625	639	23	1		1	IL12B	5	158750309	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	146629	158750309	22164951	917	84698											
CCNJL	79616	broad.mit.edu	37	chr5	159680604	159680604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggctccctgaacggtgGgcctgcaaggagtcccgata	14	12	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:159680604G>A	uc003lyb.1	-	7	1341	c.1089C>T	c.(1087-1089)GCC>GCT	p.A363A	CCNJL_uc011dee.1_Silent_p.A315A|CCNJL_uc003lyc.1_RNA	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	cyclin J-like	363						nucleus					0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGAACGGTGGGCCTGCAAGG	0.667													A	159680604	G	A	159680604	2	1	158	1	0	0	0	0	0	0	0	1	2929	1219	43	4		4	CCNJL	5	159680604	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	930295	159680604	21234656	918	84699											
ATP10B	23120	broad.mit.edu	37	chr5	160047495	160047495	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccagggtgcagaggaggcTgaaggtgaggcaggtgccct	19	9	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:160047495T>C	uc003lym.1	-	15	3122	c.2275A>G	c.(2275-2277)AGC>GGC	p.S759G	ATP10B_uc010jit.1_Missense_Mutation_p.S76G|ATP10B_uc003lyn.2_Missense_Mutation_p.S317G	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	759	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGAGGAGGCTGAAGGTGAGG	0.607													C	160047495	T	C	160047495	3	2	158	1	0	0	0	0	1	0	0	0	1117	1580	55	3	2158	3	ATP10B	5	160047495	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	366891	160047495	20867765	919	84700											
RARS	5917	broad.mit.edu	37	chr5	167937689	167937689	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggaaaaagaaagagacAaggtaattcaaagccttata	9	4	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:167937689A>G	uc003lzx.2	+	12	1491	c.1450A>G	c.(1450-1452)AAG>GAG	p.K484E	RARS_uc011deo.1_Missense_Mutation_p.K278E	NM_002887	NP_002878	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	484					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|skin(1)	3	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		AGAAAGAGACAAGGTAATTCA	0.388													G	167937689	A	G	167937689	3	3	158	1	0	0	0	0	1	0	0	0	13058	131	5	3	1496	3	RARS	5	167937689	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	7890194	167937689	12977571	920	84701											
SLIT3	6586	broad.mit.edu	37	chr5	168149277	168149277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacagcactcgcagggaccGcagcccgttgaaggcgtgga	14	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:168149277G>A	uc003mab.2	-	23	2887	c.2467C>T	c.(2467-2469)CGG>TGG	p.R823W	SLIT3_uc010jjg.2_Missense_Mutation_p.R823W	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	823					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGCAGGGACCGCAGCCCGTTG	0.547													A	168149277	G	A	168149277	3	1	158	1	0	0	0	0	1	0	0	0	14741	1086	38	1	2160	1	SLIT3	5	168149277	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	211588	168149277	12765983	921	84702											
DOCK2	1794	broad.mit.edu	37	chr5	169508852	169508852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctctccttccagccctggCgctctcagtggcaggcatcc	10	17	2	0	rs141274816		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:169508852C>T	uc003maf.2	+	51	5374	c.5294C>T	c.(5293-5295)GCG>GTG	p.A1765V	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.A1257V|DOCK2_uc003mah.2_Missense_Mutation_p.A321V	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1765					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGCCCTGGCGCTCTCAGTG	0.627													T	169508852	C	T	169508852	3	4	158	1	0	0	0	0	1	0	0	0	4687	768	27	1	5496	1	DOCK2	5	169508852	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1359575	169508852	11406408	922	84703											
FOXI1	2299	broad.mit.edu	37	chr5	169533425	169533425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatctaccagtacgtggccgAcaacttccccttctacaaca	6	15	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:169533425A>G	uc003mai.3	+	1	509	c.464A>G	c.(463-465)GAC>GGC	p.D155G	FOXI1_uc003maj.3_Missense_Mutation_p.D155G	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	155	Fork-head.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACGTGGCCGACAACTTCCCC	0.612									Pendred_syndrome				G	169533425	A	G	169533425	3	3	158	1	0	0	0	0	1	0	0	0	6009	275	10	3	466	3	FOXI1	5	169533425	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	24573	169533425	11381835	923	84704											
FOXI1	2299	broad.mit.edu	37	chr5	169533489	169533489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatccgccacaacctgtcGctcaacgactgcttcaagaa	6	16	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:169533489G>A	uc003mai.3	+	1	573	c.528G>A	c.(526-528)TCG>TCA	p.S176S	FOXI1_uc003maj.3_Silent_p.S176S	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	176	Fork-head.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAACCTGTCGCTCAACGACT	0.592									Pendred_syndrome				A	169533489	G	A	169533489	2	1	158	1	0	0	0	0	0	0	0	1	6009	1074	38	1		1	FOXI1	5	169533489	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	64	169533489	11381771	924	84705											
GABRP	2568	broad.mit.edu	37	chr5	170232766	170232766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacctggctgagagggaaCgactctgtgcgtggactgga	15	9	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:170232766C>T	uc003mau.2	+	7	786	c.588C>T	c.(586-588)AAC>AAT	p.N196N	GABRP_uc011dev.1_Silent_p.N196N	NM_014211	NP_055026	O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	196	Extracellular (Potential).					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGAGAGGGAACGACTCTGTGC	0.522													T	170232766	C	T	170232766	2	4	158	1	0	0	0	0	0	0	0	1	6174	535	19	1		1	GABRP	5	170232766	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	699277	170232766	10682494	925	84706											
UBTD2	92181	broad.mit.edu	37	chr5	171639009	171639009	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatgcaaccgtctcttcAtgtggaatactgtgtctgtg	10	10	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:171639009A>G	uc003mbp.1	-	3	656	c.530T>C	c.(529-531)ATG>ACG	p.M177T		NM_152277	NP_689490	Q8WUN7	UBTD2_HUMAN	dendritic cell-derived ubiquitin-like protein	177	Ubiquitin-like.					cytoplasm					0	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGTCTCTTCATGTGGAATAC	0.502													G	171639009	A	G	171639009	3	3	158	1	0	0	0	0	1	0	0	0	16905	217	8	3	178	3	UBTD2	5	171639009	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1406243	171639009	9276251	926	84707											
C5orf41	153222	broad.mit.edu	37	chr5	172550130	172550130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagcaagagattgtaaacCgggtacagaatccaagagat	10	7	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:172550130C>T	uc003mch.2	+	8	2033	c.1729C>T	c.(1729-1731)CGG>TGG	p.R577W	C5orf41_uc011dfd.1_Missense_Mutation_p.R577W	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	luman-recruiting factor	577							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GATTGTAAACCGGGTACAGAA	0.383													T	172550130	C	T	172550130	3	4	158	1	0	0	0	0	1	0	0	0	2300	643	23	1	1787	1	C5orf41	5	172550130	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	911121	172550130	8365130	927	84708											
CPEB4	80315	broad.mit.edu	37	chr5	173317326	173317326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccagggaggggtccctgCtgcttcggctaataacggtg	14	11	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:173317326C>T	uc003mcs.3	+	1	1996	c.590C>T	c.(589-591)GCT>GTT	p.A197V	CPEB4_uc010jju.1_Missense_Mutation_p.A197V|CPEB4_uc010jjv.2_Missense_Mutation_p.A197V|CPEB4_uc011dfg.1_Missense_Mutation_p.A197V|CPEB4_uc003mct.3_5'Flank|CPEB4_uc003mcu.3_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	197							nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGGGTCCCTGCTGCTTCGGCT	0.502													T	173317326	C	T	173317326	3	4	158	1	0	0	0	0	1	0	0	0	3803	797	28	2	592	2	CPEB4	5	173317326	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	767196	173317326	7597934	928	84709											
KIAA1191	57179	broad.mit.edu	37	chr5	175777655	175777655	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaggtacttggtctcctcGgtggtgaggcccttgtgggg	17	9	1	1	rs147780177	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:175777655G>A	uc003mdw.2	-	6	792	c.420C>T	c.(418-420)ACC>ACT	p.T140T	KIAA1191_uc003mdx.2_Silent_p.T121T|KIAA1191_uc003mdy.2_Silent_p.T140T|KIAA1191_uc003mea.2_Intron|KIAA1191_uc003mdz.2_Intron	NM_020444	NP_065177	Q96A73	K1191_HUMAN	hypothetical protein LOC57179 isoform a	140							protein binding			ovary(1)	1	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		TGGTCTCCTCGGTGGTGAGGC	0.517													A	175777655	G	A	175777655	2	1	158	1	0	0	0	0	0	0	0	1	8212	1103	39	1		1	KIAA1191	5	175777655	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2460329	175777655	5137605	929	84710											
FAF2	23197	broad.mit.edu	37	chr5	175919205	175919205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctccccaggtttgctcttCgttttatacggcctgaccct	7	15	1	1	rs151193681		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:175919205C>T	uc003mej.3	+	5	408	c.355C>T	c.(355-357)CGT>TGT	p.R119C		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	UBX domain containing 8	119					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			ovary(1)	1						GTTTGCTCTTCGTTTTATACG	0.483													T	175919205	C	T	175919205	3	4	158	1	0	0	0	0	1	0	0	0	5370	884	31	1	373	1	FAF2	5	175919205	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	141550	175919205	4996055	930	84711											
FGFR4	2264	broad.mit.edu	37	chr5	176520159	176520159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggaccccacatggaccGcagcagcgcccgaggccagg	15	15	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:176520159G>A	uc003mfl.2	+	9	1245	c.1078G>A	c.(1078-1080)GCA>ACA	p.A360T	FGFR4_uc003mfm.2_Missense_Mutation_p.A360T|FGFR4_uc011dfu.1_Missense_Mutation_p.A360T|FGFR4_uc011dfw.1_3'UTR|FGFR4_uc003mfo.2_Intron	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	360	Extracellular (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CACATGGACCGCAGCAGCGCC	0.642										TSP Lung(9;0.080)			A	176520159	G	A	176520159	3	1	158	1	0	0	0	0	1	0	0	0	5868	1087	38	1	1108	1	FGFR4	5	176520159	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	600954	176520159	4395101	931	84712											
NSD1	64324	broad.mit.edu	37	chr5	176639130	176639130	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgataaatccagtgccagcAttggtgacatggaaaaggag	13	6	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:176639130A>G	uc003mfr.3	+	5	3868	c.3730A>G	c.(3730-3732)ATT>GTT	p.I1244V	NSD1_uc003mft.3_Missense_Mutation_p.I975V|NSD1_uc003mfs.1_Missense_Mutation_p.I1141V|NSD1_uc011dfx.1_Missense_Mutation_p.I892V	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1244					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAGTGCCAGCATTGGTGACAT	0.438			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			G	176639130	A	G	176639130	3	3	158	1	0	0	0	0	1	0	0	0	10669	217	8	3	3744	3	NSD1	5	176639130	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	118971	176639130	4276130	932	84713											
NSD1	64324	broad.mit.edu	37	chr5	176722004	176722004	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttctcagcctcctgccaaGgcctttttatatgagccaac	6	14	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:176722004G>T	uc003mfr.3	+	23	7773	c.7635G>T	c.(7633-7635)AAG>AAT	p.K2545N	NSD1_uc003mft.3_Missense_Mutation_p.K2276N|NSD1_uc011dfx.1_Missense_Mutation_p.K2193N	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2545					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTCCTGCCAAGGCCTTTTTAT	0.572			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			T	176722004	G	T	176722004	3	4	158	1	0	0	0	0	1	0	0	0	10669	991	35	5	7721	5	NSD1	5	176722004	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	82874	176722004	4193256	933	84714											
SLC34A1	6569	broad.mit.edu	37	chr5	176825225	176825225	+	Frame_Shift_Del	DEL	C	C	-													gggtcttcctggaggagctaCcccctgccacaccctccccc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:176825224_176825224AC>A	uc003mgk.4	+	12	1961	c.1857_1857AC>A	c.(1855-1857)ctafs	p.L619fs		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	619					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGAGGAGCTACCCCCTGCCA	0.682													-	176825225	C	-	176825225	7	5	158	1	0	1	0	1	0	0	0	0	14567	507	18	0	1995	0	SLC34A1	5	176825225	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	103221	176825225	4090035	934	84715											
GRK6	2870	broad.mit.edu	37	chr5	176860644	176860644	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccatggcgctgaacgagaaGcagatcctggagaaagtgaa	14	8	0	5			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:176860644G>T	uc011dfz.1	+	8	865	c.705G>T	c.(703-705)AAG>AAT	p.K235N	GRK6_uc003mgp.2_Missense_Mutation_p.K235N|GRK6_uc003mgq.2_Missense_Mutation_p.K235N|GRK6_uc003mgs.1_Missense_Mutation_p.K205N	NM_002082	NP_002073	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6 isoform B	235	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)|stomach(1)|breast(1)	3	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAACGAGAAGCAGATCCTGG	0.567													T	176860644	G	T	176860644	3	4	158	1	0	0	0	0	1	0	0	0	6793	962	34	5	735	5	GRK6	5	176860644	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	35419	176860644	4054616	935	84716											
RMND5B	64777	broad.mit.edu	37	chr5	177575020	177575020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacccggcagatgggaaacGcatcatattctgattcctac	9	11	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:177575020G>A	uc003mim.2	+	11	1349	c.1169G>A	c.(1168-1170)CGC>CAC	p.R390H	RMND5B_uc003min.2_Missense_Mutation_p.R390H|RMND5B_uc003mio.2_Missense_Mutation_p.R377H|RMND5B_uc003mip.2_Missense_Mutation_p.R390H|RMND5B_uc011dgf.1_Missense_Mutation_p.R431H|RMND5B_uc003miq.2_Missense_Mutation_p.R330H	NM_022762	NP_073599	Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog	390										ovary(1)|skin(1)	2	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGGGAAACGCATCATATTC	0.532													A	177575020	G	A	177575020	3	1	158	1	0	0	0	0	1	0	0	0	13398	1087	38	1	1203	1	RMND5B	5	177575020	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	714376	177575020	3340240	936	84717											
CLK4	57396	broad.mit.edu	37	chr5	178039467	178039467	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtagacaccaaagtactgTgatgttcatcatcatacgtt	9	8	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:178039467T>C	uc003mjf.1	-	9	1109	c.1001A>G	c.(1000-1002)CAC>CGC	p.H334R	CLK4_uc003mjg.1_Missense_Mutation_p.H298R|CLK4_uc010jku.1_Missense_Mutation_p.H154R|CLK4_uc003mjh.1_Missense_Mutation_p.H154R|CLK4_uc010jkv.1_RNA|CLK4_uc011dgg.1_Intron|CLK4_uc011dgh.1_Missense_Mutation_p.H154R	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	334	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(1)	1	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		CAAAGTACTGTGATGTTCATC	0.408													C	178039467	T	C	178039467	3	2	158	1	0	0	0	0	1	0	0	0	3539	1696	59	3	464	3	CLK4	5	178039467	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	464447	178039467	2875793	937	84718											
GRM6	2916	broad.mit.edu	37	chr5	178413722	178413722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagagacgagggcacctcGtgggggtcgccagaccactg	15	13	0	2	rs61733043	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:178413722G>A	uc003mjr.2	-	8	1712	c.1533C>T	c.(1531-1533)CAC>CAT	p.H511H	GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Silent_p.H94H|GRM6_uc003mjs.1_Silent_p.H131H	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	511	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGGGCACCTCGTGGGGGTCGC	0.697													A	178413722	G	A	178413722	2	1	158	1	0	0	0	0	0	0	0	1	6801	1136	40	1		1	GRM6	5	178413722	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	374255	178413722	2501538	938	84719											
ADAMTS2	9509	broad.mit.edu	37	chr5	178579173	178579173	+	Frame_Shift_Del	DEL	G	G	-													gcacacatagtcccgtccaaGgggggccccttcttggtctt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:178579172_178579172AG>A	uc003mjw.3	-	9	1702	c.1600_1600CT>T	c.(1600-1602)ttgfs	p.L534fs	ADAMTS2_uc011dgm.2_Frame_Shift_Del_p.L534fs	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	534	Disintegrin.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTCCCGTCCAAGGGGGGCCCC	0.597													-	178579173	G	-	178579173	7	5	158	1	0	1	0	1	0	0	0	0	265	987	35	0	2163	0	ADAMTS2	5	178579173	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	165451	178579173	2336087	939	84720											
SQSTM1	8878	broad.mit.edu	37	chr5	179260040	179260040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcctctaggcattgaaGttgatatcgatgtggagcac	11	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:179260040G>A	uc003mkw.3	+	6	858	c.763G>A	c.(763-765)GTT>ATT	p.V255I	SQSTM1_uc011dgr.1_Missense_Mutation_p.V171I|SQSTM1_uc011dgs.1_Missense_Mutation_p.V171I|SQSTM1_uc003mkv.3_Missense_Mutation_p.V255I|SQSTM1_uc003mkx.2_Missense_Mutation_p.V171I	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1 isoform 1	255					anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCATTGAAGTTGATATCGA	0.572									Paget_Disease_of_Bone				A	179260040	G	A	179260040	3	1	158	1	0	0	0	0	1	0	0	0	15129	1029	36	4	785	4	SQSTM1	5	179260040	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	680867	179260040	1655220	940	84721											
C5orf45	51149	broad.mit.edu	37	chr5	179264410	179264410	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcacacatcatcatcgaagTcttccccagttataaagagg	6	11	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:179264410T>C	uc003mla.2	-	7	1057	c.1013A>G	c.(1012-1014)GAC>GGC	p.D338G	SQSTM1_uc011dgr.1_3'UTR|SQSTM1_uc011dgs.1_3'UTR|SQSTM1_uc003mkw.3_3'UTR|SQSTM1_uc003mkx.2_3'UTR|C5orf45_uc003mky.2_Intron|C5orf45_uc011dgt.1_Intron|C5orf45_uc011dgu.1_Intron|C5orf45_uc003mlc.2_Missense_Mutation_p.D283G|C5orf45_uc003mlb.2_Missense_Mutation_p.D204G	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN	hypothetical protein LOC51149 isoform 1	338											0						ATCATCGAAGTCTTCCCCAGT	0.522													C	179264410	T	C	179264410	3	2	158	1	0	0	0	0	1	0	0	0	2304	1667	58	3	22	3	C5orf45	5	179264410	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	4370	179264410	1650850	941	84722											
OR2Y1	134083	broad.mit.edu	37	chr5	180166307	180166308	+	Frame_Shift_Ins	INS	-	-	A													tgtgtagatggctgagccatINSaaaaaaggaaaactactagg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:180166307_180166308insA	uc003mmf.1	-	1	751_752	c.751_752insT	c.(751-753)TATfs	p.Y251fs		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y,	251	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCTGAGCCATAAAAAAGGAAA	0.455													A	180166308	-	A	180166307	7	5	158	1	0	1	1	0	0	0	0	0	11035	1406	49	0	187	0	OR2Y1	5	180166307	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	901897	180166307	748953	942	84723	423	2									
OR2Y1	134083	broad.mit.edu	37	chr5	180166308	180166309	+	Frame_Shift_Ins	INS	-	-	A													gtgtagatggctgagccataINSaaaaaggaaaactactagga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:180166307_180166308T>TA	uc003mmf.1	-	0	751_752	c.751_752A>TA	c.(751-753)tatfs	p.Y251fs		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCTGAGCCATAAAAAAGGAAA	0.455													A	180166309	-	A	180166308	7	5	158	1	0	1	1	0	0	0	0	0	11035	362	13	0	188	0	OR2Y1	5	180166308	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	1	180166308	748952	943	84724	423	2									
TRIM7	81786	broad.mit.edu	37	chr5	180622224	180622224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagaaaagcgggaacacgCgctcctggaagttgacgcgg	15	10	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:180622224C>T	uc003mmz.1	-	7	1545	c.1478G>A	c.(1477-1479)CGC>CAC	p.R493H	TRIM7_uc003mmv.1_Missense_Mutation_p.R311H|TRIM7_uc003mmw.1_Missense_Mutation_p.R285H|TRIM7_uc003mmx.1_Missense_Mutation_p.R285H|TRIM7_uc003mmy.1_Missense_Mutation_p.R285H	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	493	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CGGGAACACGCGCTCCTGGAA	0.647													T	180622224	C	T	180622224	3	4	158	1	0	0	0	0	1	0	0	0	16540	768	27	1	61	1	TRIM7	5	180622224	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	455916	180622224	293036	944	84725											
RIPK1	8737	broad.mit.edu	37	chr6	3105859	3105859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactccaagacgaagccaacTaccatctttatggcagccgc	7	14	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:3105859T>C	uc010jni.2	+	9	1382	c.1150T>C	c.(1150-1152)TAC>CAC	p.Y384H	RIPK1_uc003muv.3_Missense_Mutation_p.Y221H|RIPK1_uc003muw.3_Missense_Mutation_p.Y319H|RIPK1_uc011dhs.1_Missense_Mutation_p.Y338H|RIPK1_uc003mux.2_Missense_Mutation_p.Y384H	NM_003804	NP_003795	Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine	384	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			large_intestine(3)|lung(1)|skin(1)	5	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CGAAGCCAACTACCATCTTTA	0.552													C	3105859	T	C	3105859	3	2	158	1	0	0	0	0	1	0	0	0	13380	1522	53	3	1180	3	RIPK1	6	3105859	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08		3105859	168009208	945	84726											
CDYL	9425	broad.mit.edu	37	chr6	4892385	4892385	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgttaagagcaggaccgcaGtggacggctttcagagcgag	15	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:4892385G>T	uc003mwi.2	+	4	756	c.625G>T	c.(625-627)GTG>TTG	p.V209L	CDYL_uc003mwj.2_Missense_Mutation_p.V155L|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_Missense_Mutation_p.V23L|CDYL_uc011dhy.1_Missense_Mutation_p.V23L	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	209					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CAGGACCGCAGTGGACGGCTT	0.592													T	4892385	G	T	4892385	3	4	158	1	0	0	0	0	1	0	0	0	3185	1029	36	5	469	5	CDYL	6	4892385	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1786526	4892385	166222682	946	84727											
RREB1	6239	broad.mit.edu	37	chr6	7211914	7211914	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtatggactggagacccacAtggagacccattcagataac	10	10	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:7211914A>G	uc003mxc.2	+	8	1069	c.679A>G	c.(679-681)ATG>GTG	p.M227V	RREB1_uc010jnw.2_Missense_Mutation_p.M227V|RREB1_uc003mxb.2_Missense_Mutation_p.M227V|RREB1_uc010jnx.2_Missense_Mutation_p.M227V|RREB1_uc003mxd.2_Missense_Mutation_p.M227V	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	227	C2H2-type 4.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGAGACCCACATGGAGACCCA	0.463													G	7211914	A	G	7211914	3	3	158	1	0	0	0	0	1	0	0	0	13679	217	8	3	697	3	RREB1	6	7211914	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	2319529	7211914	163903153	947	84728											
RREB1	6239	broad.mit.edu	37	chr6	7229398	7229398	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggccacgcccctgcctggtGacgccctggaccagaagggc	14	16	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:7229398G>A	uc003mxc.2	+	10	1456	c.1066G>A	c.(1066-1068)GAC>AAC	p.D356N	RREB1_uc003mxb.2_Missense_Mutation_p.D356N|RREB1_uc010jnx.2_Missense_Mutation_p.D356N	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	356					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCTGCCTGGTGACGCCCTGGA	0.657													A	7229398	G	A	7229398	3	1	158	1	0	0	0	0	1	0	0	0	13679	1290	45	4	1092	4	RREB1	6	7229398	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	17484	7229398	163885669	948	84729											
RREB1	6239	broad.mit.edu	37	chr6	7230308	7230308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttctcgggggtcttgcGtgcccacgtgcgctcccacc	12	17	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:7230308G>A	uc003mxc.2	+	10	2366	c.1976G>A	c.(1975-1977)CGT>CAT	p.R659H	RREB1_uc003mxb.2_Missense_Mutation_p.R659H|RREB1_uc010jnx.2_Missense_Mutation_p.R659H	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	659	C2H2-type 7.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGGGTCTTGCGTGCCCACGTG	0.657													A	7230308	G	A	7230308	3	1	158	1	0	0	0	0	1	0	0	0	13679	1145	40	1	2002	1	RREB1	6	7230308	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	910	7230308	163884759	949	84730											
CAGE1	285782	broad.mit.edu	37	chr6	7370300	7370300	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgtcgtttttgtatccTacatgcacgtaattcagatt	7	7	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:7370300T>C	uc003mxi.2	-	5	2060	c.1339_splice	c.e5-1	p.D447_splice	CAGE1_uc003mxh.2_Splice_Site|CAGE1_uc003mxj.2_Splice_Site_p.D338_splice|CAGE1_uc003mxk.1_Splice_Site_p.D338_splice	NM_205864	NP_995586	Q8TC20	CAGE1_HUMAN	cancer antigen 1												0	Ovarian(93;0.0418)					TTTTGTATCCTACATGCACGT	0.393													C	7370300	T	C	7370300	5	2	158	1	0	0	0	0	0	0	1	0	2572	1536	53	3	916	3	CAGE1	6	7370300	Splice_Site	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	139992	7370300	163744767	950	84731											
DSP	1832	broad.mit.edu	37	chr6	7583974	7583974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gattgatagagatttgtatcGatccctgaatgatccccgag	10	8	0	4	rs146642551		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:7583974G>A	uc003mxp.1	+	24	6758	c.6479G>A	c.(6478-6480)CGA>CAA	p.R2160Q	DSP_uc003mxq.1_Missense_Mutation_p.R1561Q	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2160	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GATTTGTATCGATCCCTGAAT	0.488													A	7583974	G	A	7583974	3	1	158	1	0	0	0	0	1	0	0	0	4781	1058	37	1	6573	1	DSP	6	7583974	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	213674	7583974	163531093	951	84732											
DSP	1832	broad.mit.edu	37	chr6	7584598	7584598	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggccacggtattcgcttatTagaagcacagatcgcaaccg	11	11	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:7584598T>C	uc003mxp.1	+	24	7382	c.7103T>C	c.(7102-7104)TTA>TCA	p.L2368S	DSP_uc003mxq.1_Missense_Mutation_p.L1769S	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2368	Plectin 10.|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATTCGCTTATTAGAAGCACAG	0.453													C	7584598	T	C	7584598	3	2	158	1	0	0	0	0	1	0	0	0	4781	1764	61	3	7197	3	DSP	6	7584598	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	624	7584598	163530469	952	84733											
DSP	1832	broad.mit.edu	37	chr6	7585991	7585991	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgctccggctcccgctcgggAtctcgctccggatctcgctc	11	19	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:7585991A>T	uc003mxp.1	+	24	8775	c.8496A>T	c.(8494-8496)GGA>GGT	p.G2832G	DSP_uc003mxq.1_Silent_p.G2233G	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2832	6 X 4 AA tandem repeats of G-S-R-[SR].|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		cccgctcgggatctcgctccg	0.418													T	7585991	A	T	7585991	2	4	158	1	0	0	0	0	0	0	0	1	4781	320	12	5		5	DSP	6	7585991	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1393	7585991	163529076	953	84734											
MAK	4117	broad.mit.edu	37	chr6	10792006	10792006	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagtcctccaactcttcccaGctatctccagacttgaagat	5	14	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:10792006G>T	uc003mzl.2	-	9	1447	c.1218C>A	c.(1216-1218)AGC>AGA	p.S406R	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.S406R|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	406					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				ACTCTTCCCAGCTATCTCCAG	0.438													T	10792006	G	T	10792006	3	4	158	1	0	0	0	0	1	0	0	0	9197	962	34	5	673	5	MAK	6	10792006	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3206015	10792006	160323061	954	84735											
HIVEP1	3096	broad.mit.edu	37	chr6	12122061	12122061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattctggttacttttcacGttctgaaagtgccgatcaaa	9	8	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:12122061G>A	uc003nac.2	+	4	2212	c.2033G>A	c.(2032-2034)CGT>CAT	p.R678H	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	678					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TACTTTTCACGTTCTGAAAGT	0.502													A	12122061	G	A	12122061	3	1	158	1	0	0	0	0	1	0	0	0	7186	1145	40	1	2043	1	HIVEP1	6	12122061	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1330055	12122061	158993006	955	84736											
JARID2	3720	broad.mit.edu	37	chr6	15487734	15487734	+	Frame_Shift_Del	DEL	C	C	-													cttgctgccacccatcaccaCccccctctgcatcggtcggc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:15487733_15487733AC>A	uc003nbj.3	+	5	1110	c.866_866AC>A	c.(865-867)cacfs	p.H289fs	JARID2_uc011diu.1_Frame_Shift_Del_p.H153fs|JARID2_uc011div.2_Frame_Shift_Del_p.H117fs|JARID2_uc011diw.1_Frame_Shift_Del_p.H251fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	289					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ACCCATCACCACCCCCCTCTG	0.647													-	15487734	C	-	15487734	7	5	158	1	0	1	0	1	0	0	0	0	7945	506	18	0	889	0	JARID2	6	15487734	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	3365673	15487734	155627333	956	84737											
ATXN1	6310	broad.mit.edu	37	chr6	16327894	16327894	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgctgatgctg	14	12	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:16327894C>A	uc003nbt.2	-	8	1619	c.648G>T	c.(646-648)CAG>CAT	p.Q216H	ATXN1_uc010jpi.2_Missense_Mutation_p.Q216H|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	216	Poly-Gln.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgct	0.373													A	16327894	C	A	16327894	3	1	158	1	0	0	0	0	1	0	0	0	1209	796	28	5	1807	5	ATXN1	6	16327894	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	840160	16327894	154787173	957	84738											
ATXN1	6310	broad.mit.edu	37	chr6	16328200	16328200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtactgcacgggggacacCggggtccctggctgcggggt	19	12	0	0	rs34546632		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:16328200C>T	uc003nbt.2	-	8	1313	c.342G>A	c.(340-342)CCG>CCA	p.P114P	ATXN1_uc010jpi.2_Silent_p.P114P|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	114					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CGGGGGACACCGGGGTCCCTG	0.657													T	16328200	C	T	16328200	2	4	158	1	0	0	0	0	0	0	0	1	1209	639	23	1		1	ATXN1	6	16328200	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	306	16328200	154786867	958	84739											
KIF13A	63971	broad.mit.edu	37	chr6	17773734	17773734	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttattccttcgaggagaatcCctgggtaaagttccataaca	8	9	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:17773734C>A	uc003ncg.3	-	36	4404	c.4299G>T	c.(4297-4299)AGG>AGT	p.R1433S	KIF13A_uc003ncf.2_Missense_Mutation_p.R1420S|KIF13A_uc003nch.3_Missense_Mutation_p.R1433S|KIF13A_uc003nci.3_Missense_Mutation_p.R1420S|KIF13A_uc003nce.1_Missense_Mutation_p.R19S	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1433					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GAGGAGAATCCCTGGGTAAAG	0.368													A	17773734	C	A	17773734	3	1	158	1	0	0	0	0	1	0	0	0	8274	622	22	5	1159	5	KIF13A	6	17773734	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1445534	17773734	153341333	959	84740											
KIF13A	63971	broad.mit.edu	37	chr6	17788023	17788023	+	Frame_Shift_Del	DEL	T	T	-													atacctgttttattgctgacTttttttatctgttcatccag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:17788022_17788022CT>C	uc003ncg.4	-	26	3506	c.3346_3346AG>G	c.(3346-3348)gtcfs	p.V1116fs	KIF13A_uc003ncf.3_Frame_Shift_Del_p.V1103fs|KIF13A_uc003nch.4_Frame_Shift_Del_p.V1116fs|KIF13A_uc003nci.4_Frame_Shift_Del_p.V1103fs	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1116					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTATTGCTGACTTTTTTTATC	0.418													-	17788023	T	-	17788023	7	5	158	1	0	1	0	1	0	0	0	0	8274	1606	56	0	2149	0	KIF13A	6	17788023	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	14289	17788023	153327044	960	84741											
FAM65B	9750	broad.mit.edu	37	chr6	24843728	24843728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgaagctgagcgacagtgGcattttctcctcggctgcct	11	12	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:24843728G>A	uc003neo.1	-	14	1458	c.1282C>T	c.(1282-1284)CCA>TCA	p.P428S	FAM65B_uc011djs.1_Missense_Mutation_p.P407S|FAM65B_uc011dju.1_Missense_Mutation_p.P412S|FAM65B_uc003nep.2_Missense_Mutation_p.P378S|FAM65B_uc011djt.1_Missense_Mutation_p.P378S	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1	428					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1						AGCGACAGTGGCATTTTCTCC	0.448													A	24843728	G	A	24843728	3	1	158	1	0	0	0	0	1	0	0	0	5600	1203	42	2	1974	2	FAM65B	6	24843728	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	7055705	24843728	146271339	961	84742											
HIST1H1E	3008	broad.mit.edu	37	chr6	26157216	26157216	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttaaacccaaggcggctAaaccaaagaccgccaagccc	8	15	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:26157216A>G	uc003ngq.2	+	1	658	c.598A>G	c.(598-600)AAA>GAA	p.K200E	HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	histone cluster 1, H1e	200					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			large_intestine(1)|ovary(1)	2						CAAGGCGGCTAAACCAAAGAC	0.522													G	26157216	A	G	26157216	3	3	158	1	0	0	0	0	1	0	0	0	7126	363	13	3	600	3	HIST1H1E	6	26157216	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1313488	26157216	144957851	962	84743											
ABT1	29777	broad.mit.edu	37	chr6	26598159	26598161	+	In_Frame_Del	DEL	AAG	AAG	-													cagaccggttcgtgagacgcAagaagaaggcagcagcagct					rs114186056	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:26598158_26598160CAAG>C	uc003nii.3	+	1	298_300	c.258_260CAAG>C	c.(256-261)cgcaag>cgCg	p.K89del		NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN	Homo sapiens activator of basal transcription 1 (ABT1), mRNA.	89	RRM.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|RNA binding|nucleotide binding|protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						TCGTGAGACGCAAGAAGAAGGCA	0.586													-	26598161	AAG	-	26598159	7	5	158	1	0	1	0	1	0	0	0	0	101	131	5	0	265	0	ABT1	6	26598159	In_Frame_Del	DEL	AAG	TCGA-CD-A4MG-01A-11D-A25D-08	440943	26598159	144516908	963	84744											
ZNF391	346157	broad.mit.edu	37	chr6	27369041	27369041	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttacagaacatcagagaAtccacagtggagaaaagcct	8	10	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:27369041A>G	uc003njf.1	+	3	1410	c.892A>G	c.(892-894)ATC>GTC	p.I298V		NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	298	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(2)|skin(1)	3						ACATCAGAGAATCCACAGTGG	0.473													G	27369041	A	G	27369041	3	3	158	1	0	0	0	0	1	0	0	0	17876	101	4	3	894	3	ZNF391	6	27369041	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	770882	27369041	143746026	964	84745											
HIST1H2AM	8336	broad.mit.edu	37	chr6	27860579	27860579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctcagtcttcttggggaGcagtacggcctggatgttag	14	9	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:27860579G>A	uc003nkb.1	-	1	385	c.349C>T	c.(349-351)CTC>TTC	p.L117F	HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	NM_003514	NP_003505	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	117					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			ovary(2)	2						TTCTTGGGGAGCAGTACGGCC	0.507													A	27860579	G	A	27860579	3	1	158	1	0	0	0	0	1	0	0	0	7139	971	34	2	47	2	HIST1H2AM	6	27860579	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	491538	27860579	143254488	965	84746											
ZNF311	282890	broad.mit.edu	37	chr6	28967739	28967739	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcctcagctcacttgggcCtggctcattagtgtgatatc	12	11	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:28967739C>A	uc003nlu.2	-	4	690	c.177G>T	c.(175-177)CAG>CAT	p.Q59H	ZNF311_uc011dlk.1_Translation_Start_Site|ZNF311_uc003nlv.2_Translation_Start_Site	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						TCACTTGGGCCTGGCTCATTA	0.488													A	28967739	C	A	28967739	3	1	158	1	0	0	0	0	1	0	0	0	17831	680	24	5	1839	5	ZNF311	6	28967739	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1107160	28967739	142147328	966	84747											
HLA-A	3105	broad.mit.edu	37	chr6	29910372	29910372	+	Frame_Shift_Del	DEL	G	G	-													accctcctcctgctactctcGggggccctggccctgaccca					rs77233523	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:29910371_29910371CG>C	uc003nol.3	+	0	125	c.41_41CG>C	c.(40-42)tcgfs	p.S14fs	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_Intron|HLA-A_uc021ytz.1_Frame_Shift_Del_p.S14fs|HLA-A_uc010jrq.3_5'UTR|HLA-A_uc003nok.3_5'UTR|HLA-A_uc021yua.1_Frame_Shift_Del_p.S14fs|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.2_5'Flank|HLA-A_uc011dmd.2_5'Flank|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	14					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CTGCTACTCTCGGGGGCCCTG	0.711									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			-	29910372	G	-	29910372	7	5	158	1	0	1	0	1	0	0	0	0	7195	1103	39	0	44	0	HLA-A	6	29910372	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	942633	29910372	141204695	967	84748											
MDC1	9656	broad.mit.edu	37	chr6	30675204	30675204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcctggaagccttctcaGcaggtggcatcttgcaattc	10	11	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:30675204G>A	uc003nrg.3	-	9	3481	c.3041C>T	c.(3040-3042)GCT>GTT	p.A1014V	MDC1_uc003nrf.3_Missense_Mutation_p.A404V|MDC1_uc011dmp.1_Missense_Mutation_p.A621V	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1014				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						AGCCTTCTCAGCAGGTGGCAT	0.488								Other_conserved_DNA_damage_response_genes					A	30675204	G	A	30675204	3	1	158	1	0	0	0	0	1	0	0	0	9403	971	34	2	3256	2	MDC1	6	30675204	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	764832	30675204	140439863	968	84749											
MDC1	9656	broad.mit.edu	37	chr6	30679786	30679786	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccaccaccagatctgtgaGgttctctcttgagataggga	11	10	3	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:30679786G>T	uc003nrg.3	-	5	2373	c.1933C>A	c.(1933-1935)CTC>ATC	p.L645I	MDC1_uc003nrf.3_Missense_Mutation_p.L299I|MDC1_uc011dmp.1_Missense_Mutation_p.L517I|MDC1_uc003nrh.1_Missense_Mutation_p.L517I|MDC1_uc003nri.2_Missense_Mutation_p.L645I	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	645				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						AGATCTGTGAGGTTCTCTCTT	0.582								Other_conserved_DNA_damage_response_genes					T	30679786	G	T	30679786	3	4	158	1	0	0	0	0	1	0	0	0	9403	1000	35	5	4380	5	MDC1	6	30679786	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4582	30679786	140435281	969	84750											
MDC1	9656	broad.mit.edu	37	chr6	30681028	30681028	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcagctgaggaggcctcctCtgtggctggttgctgacctt	15	11	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:30681028C>T	uc003nrg.3	-	5	1131	c.691G>A	c.(691-693)GAG>AAG	p.E231K	MDC1_uc003nrf.3_5'UTR|MDC1_uc011dmp.1_Missense_Mutation_p.E103K|MDC1_uc003nrh.1_Missense_Mutation_p.E103K|MDC1_uc003nri.2_Missense_Mutation_p.E231K	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	231	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						GAGGCCTCCTCTGTGGCTGGT	0.537								Other_conserved_DNA_damage_response_genes					T	30681028	C	T	30681028	3	4	158	1	0	0	0	0	1	0	0	0	9403	922	32	4	5622	4	MDC1	6	30681028	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1242	30681028	140434039	970	84751											
GTF2H4	2968	broad.mit.edu	37	chr6	30881608	30881608	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcctgtataaccagttcCtgtcgcaagtggactttgag	11	9	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:30881608C>A	uc003nsa.1	+	14	1444	c.1237C>A	c.(1237-1239)CTG>ATG	p.L413M	GTF2H4_uc003nsb.1_Missense_Mutation_p.L251M|VARS2_uc003nsc.1_5'Flank|VARS2_uc003nsd.2_5'Flank|VARS2_uc011dmx.1_5'Flank|VARS2_uc011dmy.1_5'Flank|VARS2_uc011dmz.1_5'Flank|VARS2_uc011dna.1_5'Flank|VARS2_uc011dnb.1_5'Flank|VARS2_uc011dnc.1_5'Flank	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4,	413					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3						TAACCAGTTCCTGTCGCAAGT	0.647								NER					A	30881608	C	A	30881608	3	1	158	1	0	0	0	0	1	0	0	0	6865	680	24	5	1287	5	GTF2H4	6	30881608	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	200580	30881608	140233459	971	84752											
HLA-B	3106	broad.mit.edu	37	chr6	31323216	31323216	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggttctatctcctgctggtCtggtctccacaagctcagtg	10	12	5	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:31323216C>T	uc003nth.2	-	4	827	c.773G>A	c.(772-774)AGA>AAA	p.R258K	HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_RNA|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Missense_Mutation_p.R137K|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	258	Alpha-3.|Ig-like C1-type.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0						TCCTGCTGGTCTGGTCTCCAC	0.587									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				T	31323216	C	T	31323216	3	4	158	1	0	0	0	0	1	0	0	0	7196	913	32	4	331	4	HLA-B	6	31323216	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	441608	31323216	139791851	972	84753											
CSNK2B	1460	broad.mit.edu	37	chr6	31636368	31636368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctgattgagcaggcagcCgagatgctttatggattgat	13	7	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:31636368C>T	uc003nvr.1	+	4	568	c.228C>T	c.(226-228)GCC>GCT	p.A76A	BAT4_uc003nvo.3_5'Flank|BAT4_uc003nvp.3_5'Flank|BAT4_uc003nvq.2_5'Flank|CSNK2B_uc010jta.1_3'UTR|CSNK2B_uc003nvs.1_Silent_p.A76A|LY6G5B_uc003nvt.1_5'Flank	NM_001320	NP_001311	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	76					adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding				0						AGCAGGCAGCCGAGATGCTTT	0.532													T	31636368	C	T	31636368	2	4	158	1	0	0	0	0	0	0	0	1	3959	639	23	1		1	CSNK2B	6	31636368	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	313152	31636368	139478699	973	84754											
VARS	7407	broad.mit.edu	37	chr6	31753385	31753385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctgtagaaaggcctcgCggcccagctggtgccggctc	13	15	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:31753385C>T	uc003nxe.2	-	9	1649	c.1226G>A	c.(1225-1227)CGC>CAC	p.R409H	VARS_uc011doi.1_RNA	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	409					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	AAAGGCCTCGCGGCCCAGCTG	0.607													T	31753385	C	T	31753385	3	4	158	1	0	0	0	0	1	0	0	0	17120	768	27	1	2656	1	VARS	6	31753385	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	117017	31753385	139361682	974	84755											
RDBP	7936	broad.mit.edu	37	chr6	31924499	31924499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctcaagggttcgagaacGcttgaagcctgagttcttgg	12	11	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:31924499G>A	uc003nyk.2	-	4	466	c.262C>T	c.(262-264)CGT>TGT	p.R88C	RDBP_uc011dot.1_Missense_Mutation_p.R88C|RDBP_uc003nyl.1_Missense_Mutation_p.R33C|RDBP_uc003nym.1_Missense_Mutation_p.R88C|SKIV2L_uc003nyn.1_5'Flank|SKIV2L_uc011dou.1_5'Flank|SKIV2L_uc011dov.1_5'Flank	NM_002904	NP_002895	P18615	NELFE_HUMAN	RD RNA-binding protein	88					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						GTTCGAGAACGCTTGAAGCCT	0.498													A	31924499	G	A	31924499	3	1	158	1	0	0	0	0	1	0	0	0	13188	1087	38	1	912	1	RDBP	6	31924499	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	171114	31924499	139190568	975	84756											
SKIV2L	6499	broad.mit.edu	37	chr6	31935845	31935845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacttcagcaagaggcaGcagccaaaattcaagtcaga	11	9	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:31935845G>A	uc003nyn.1	+	23	3233	c.2844G>A	c.(2842-2844)CAG>CAA	p.Q948Q	SKIV2L_uc011dou.1_Silent_p.Q790Q|SKIV2L_uc011dov.1_Silent_p.Q755Q	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	948						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						GCAAGAGGCAGCAGCCAAAAT	0.587													A	31935845	G	A	31935845	2	1	158	1	0	0	0	0	0	0	0	1	14359	962	34	2		2	SKIV2L	6	31935845	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	11346	31935845	139179222	976	84757											
TNXB	7148	broad.mit.edu	37	chr6	32064222	32064222	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcggccccggccacgacAgtccccaggacagctgcgca	12	18	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:32064222A>C	uc003nzl.2	-	3	1610	c.1408T>G	c.(1408-1410)TGT>GGT	p.C470G		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	470	EGF-like 11.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CGGCCACGACAGTCCCCAGGA	0.701													C	32064222	A	C	32064222	3	2	158	1	0	0	0	0	1	0	0	0	16343	188	7	5	13473	5	TNXB	6	32064222	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	128377	32064222	139050845	977	84758											
GPSM3	63940	broad.mit.edu	37	chr6	32159258	32159258	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagggaggggaggctctgacCgctgggcttccatccgctgg	18	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:32159258C>A	uc003oay.3	-	4	761	c.368G>T	c.(367-369)CGG>CTG	p.R123L	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.2_5'Flank|GPSM3_uc003oax.3_Missense_Mutation_p.R100L|GPSM3_uc003oaz.2_Missense_Mutation_p.R123L	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3 (AGS3-like, C.	123	GoLoco 2.				signal transduction	cytoplasm	GTPase activator activity|protein binding				0						AGGCTCTGACCGCTGGGCTTC	0.632													A	32159258	C	A	32159258	3	1	158	1	0	0	0	0	1	0	0	0	6736	652	23	5	118	5	GPSM3	6	32159258	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	95036	32159258	138955809	978	84759											
COL11A2	1302	broad.mit.edu	37	chr6	33136751	33136752	+	Frame_Shift_Ins	INS	-	-	G													ccgagggccaccttctccagINSgggggccagggtcaccagga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:33136750_33136751A>AG	uc003ocx.1	-	51	4061_4062	c.3833_3834T>CT	c.(3832-3834)cctfs	p.P1278fs	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Frame_Shift_Ins_p.P1192fs|COL11A2_uc003ocz.1_Frame_Shift_Ins_p.P1171fs	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1278	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CACCTTCTCCAGGGGGGCCAGG	0.614													G	33136752	-	G	33136751	7	5	158	1	0	1	1	0	0	0	0	0	3668	1000	35	0	1437	0	COL11A2	6	33136751	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	977493	33136751	137978316	979	84760											
RGL2	5863	broad.mit.edu	37	chr6	33263965	33263966	+	Frame_Shift_Ins	INS	-	-	C													gcggatgaggtcagcgctgcINScccccccaacacccttccct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:33263964_33263965G>GC	uc003odv.3	-	5	1168_1169	c.608_609C>GC	c.(607-609)ggcfs	p.G203fs	RGL2_uc003odu.3_5'UTR|RGL2_uc010jur.3_Intron|RGL2_uc003odw.3_Frame_Shift_Ins_p.G121fs|RGL2_uc011drb.2_Frame_Shift_Ins_p.G121fs	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	203	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGTCAGCGCTGCCCCCCCCAAC	0.653													C	33263966	-	C	33263965	7	5	158	1	0	1	1	0	0	0	0	0	13277	739	26	0	1777	0	RGL2	6	33263965	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	127214	33263965	137851102	980	84761											
PHF1	5252	broad.mit.edu	37	chr6	33383637	33383637	+	Frame_Shift_Del	DEL	C	C	-													cacagacatccctaaaagtgCcccccactcgatgactgcct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:33383637delC	uc003oeh.2	+	15	1702	c.1466delC	c.(1465-1467)GCCfs	p.A489fs	PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Frame_Shift_Del_p.P454fs|PHF1_uc010jux.2_Frame_Shift_Del_p.A289fs	NM_024165	NP_077084	O43189	PHF1_HUMAN	PHD finger protein 1 isoform b	489					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(999;0.0443)				CCTAAAAGTGCCCCCCACTCG	0.532													-	33383637	C	-	33383637	7	5	158	1	0	1	0	1	0	0	0	0	11820	739	26	0	1520	0	PHF1	6	33383637	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	119672	33383637	137731430	981	84762											
SCUBE3	222663	broad.mit.edu	37	chr6	35195381	35195381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgagtgtgtggaggggaCtgacaactgccacatcgatg	16	7	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:35195381C>T	uc003okf.1	+	2	116	c.110C>T	c.(109-111)ACT>ATT	p.T37I	SCUBE3_uc003okg.1_Missense_Mutation_p.T37I|SCUBE3_uc003okh.1_5'UTR	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	37	EGF-like 1; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						GTGGAGGGGACTGACAACTGC	0.557													T	35195381	C	T	35195381	3	4	158	1	0	0	0	0	1	0	0	0	13946	565	20	4	116	4	SCUBE3	6	35195381	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1811744	35195381	135919686	982	84763											
BRPF3	27154	broad.mit.edu	37	chr6	36169331	36169331	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgagactggcgatgaggAagggctgaaggagggtgatg	20	4	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:36169331A>G	uc003olv.3	+	2	1456	c.1232A>G	c.(1231-1233)GAA>GGA	p.E411G	BRPF3_uc010jwb.2_Missense_Mutation_p.E411G|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Missense_Mutation_p.E411G	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	411	Glu-rich.				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GGCGATGAGGAAGGGCTGAAG	0.498													G	36169331	A	G	36169331	3	3	158	1	0	0	0	0	1	0	0	0	1521	246	9	3	1234	3	BRPF3	6	36169331	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	973950	36169331	134945736	983	84764											
BRPF3	27154	broad.mit.edu	37	chr6	36181729	36181729	+	Frame_Shift_Del	DEL	C	C	-													ttccttgtctgagcaagaatCccccccggagccccctactc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:36181728_36181728TC>T	uc003olv.4	+	7	2778	c.2554_2554TC>T	c.(2554-2556)tccfs	p.S852fs	BRPF3_uc010jwb.3_Intron|BRPF3_uc011dtj.2_Intron|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Intron	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	852					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TGAGCAAGAATCCCCCCCGGA	0.502													-	36181729	C	-	36181729	7	5	158	1	0	1	0	1	0	0	0	0	1521	855	30	0	2581	0	BRPF3	6	36181729	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	12398	36181729	134933338	984	84765											
CDKN1A	1026	broad.mit.edu	37	chr6	36652093	36652093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcgtgtgcggggccttgGcctgcccaagctctaccttc	14	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:36652093G>A	uc003omm.3	+	2	337	c.215G>A	c.(214-216)GGC>GAC	p.G72D	CDKN1A_uc011dtq.1_Missense_Mutation_p.G106D|CDKN1A_uc003oml.2_Missense_Mutation_p.G72D|CDKN1A_uc003omn.2_Missense_Mutation_p.G72D	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	72					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						CGGGGCCTTGGCCTGCCCAAG	0.682									Multiple_Endocrine_Neoplasia_type_1				A	36652093	G	A	36652093	3	1	158	1	0	0	0	0	1	0	0	0	3158	1203	42	2	217	2	CDKN1A	6	36652093	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	470364	36652093	134462974	985	84766											
PPIL1	51645	broad.mit.edu	37	chr6	36823635	36823635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcacgtcgtccacagggCggtcctgggagtttgtttct	12	11	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:36823635C>T	uc003omu.2	-	4	707	c.455G>A	c.(454-456)CGC>CAC	p.R152H		NM_016059	NP_057143	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase-like 1	152	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1						GTCCACAGGGCGGTCCTGGGA	0.532													T	36823635	C	T	36823635	3	4	158	1	0	0	0	0	1	0	0	0	12326	768	27	1	49	1	PPIL1	6	36823635	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	171542	36823635	134291432	986	84767											
C6orf89	221477	broad.mit.edu	37	chr6	36867371	36867372	+	Frame_Shift_Ins	INS	-	-	C													aaagaatgaacctcagagacINScccccccgcagtatcctctc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:36867370_36867371A>AC	uc003omw.3	+	1	334_335	c.171_172A>AC	c.(169-174)agacccfs	p.R57fs	C6orf89_uc003omv.3_5'UTR|C6orf89_uc003omx.3_Frame_Shift_Ins_p.R50fs|C6orf89_uc011dtr.2_5'UTR	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	50						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						AACCTCAGAGACCCCCCCCGCA	0.431													C	36867372	-	C	36867371	7	5	158	1	0	1	1	0	0	0	0	0	2373	507	18	0	178	0	C6orf89	6	36867371	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	43736	36867371	134247696	987	84768											
PIM1	5292	broad.mit.edu	37	chr6	37140782	37140782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctcacagggacccgagtGtatagccctccagagtggat	13	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:37140782G>A	uc003onk.2	+	5	1048	c.618G>A	c.(616-618)GTG>GTA	p.V206V	PIM1_uc011dtw.1_Missense_Mutation_p.C75Y	NM_002648	NP_002639	P11309	PIM1_HUMAN	non-specific serine/threonine protein kinase	297	Protein kinase.				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			large_intestine(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GGACCCGAGTGTATAGCCCTC	0.483			T	BCL6	NHL								A	37140782	G	A	37140782	2	1	158	1	0	0	0	0	0	0	0	1	11927	1364	48	4		4	PIM1	6	37140782	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	273411	37140782	133974285	988	84769											
BTBD9	114781	broad.mit.edu	37	chr6	38565763	38565763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaccacgaatgtgacgtcGccatattcttccccaatcaa	5	15	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:38565763G>A	uc003ooa.3	-	3	684	c.108C>T	c.(106-108)GGC>GGT	p.G36G	BTBD9_uc003ony.3_5'Flank|BTBD9_uc010jwv.2_5'Flank|BTBD9_uc010jww.2_5'Flank|BTBD9_uc010jwx.2_Silent_p.G36G	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9 isoform a	36	BTB.				cell adhesion						0						ATGTGACGTCGCCATATTCTT	0.448													A	38565763	G	A	38565763	2	1	158	1	0	0	0	0	0	0	0	1	1548	1074	38	1		1	BTBD9	6	38565763	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1424981	38565763	132549304	989	84770											
DNAH8	1769	broad.mit.edu	37	chr6	38697695	38697696	+	Frame_Shift_Ins	INS	-	-	T													agctggaagcatttactaatINSttttttgcgaaagatggttg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:38697694_38697695A>AT	uc021yzh.1	+	3	651_652	c.542_543A>AT	c.(541-543)aatfs	p.N181fs	DNAH8_uc003ooe.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCATTTACTAATTTTTTTGCGA	0.337													T	38697696	-	T	38697695	7	5	158	1	0	1	1	0	0	0	0	0	4607	1508	52	0		0	DNAH8	6	38697695	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	131932	38697695	132417372	990	84771											
DNAH8	1769	broad.mit.edu	37	chr6	38816440	38816440	+	Frame_Shift_Del	DEL	A	A	-													ttagatacaatgctccatttAaaaaaaatatccagaattgg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:38816439_38816439TA>T	uc021yzh.1	+	36	5170	c.5061_5061TA>T	c.(5059-5061)tttfs	p.F1687fs	DNAH8_uc003ooe.2_Frame_Shift_Del_p.F1470fs	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGCTCCATTTAAAAAAAATA	0.343													-	38816440	A	-	38816440	7	5	158	1	0	1	0	1	0	0	0	0	4607	363	13	0	4541	0	DNAH8	6	38816440	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	118745	38816440	132298627	991	84772											
DNAH8	1769	broad.mit.edu	37	chr6	38831703	38831703	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagtttaacagaattgaatTgcctgtattatcagtggcag	10	5	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:38831703T>C	uc003ooe.1	+	43	6314	c.5714T>C	c.(5713-5715)TTG>TCG	p.L1905S		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						AGAATTGAATTGCCTGTATTA	0.338													C	38831703	T	C	38831703	3	2	158	1	0	0	0	0	1	0	0	0	4607	1821	63	3	5876	3	DNAH8	6	38831703	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	15263	38831703	132283364	992	84773											
DAAM2	23500	broad.mit.edu	37	chr6	39835331	39835331	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagggcttgacctgtctgctAaatttcctccggagcatgga	12	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:39835331A>G	uc003oow.2	+	6	630	c.474A>G	c.(472-474)CTA>CTG	p.L158L	DAAM2_uc010jxc.2_Silent_p.L158L|DAAM2_uc003oox.2_Silent_p.L158L	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	158	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCTGTCTGCTAAATTTCCTCC	0.493													G	39835331	A	G	39835331	2	3	158	1	0	0	0	0	0	0	0	1	4216	349	13	3		3	DAAM2	6	39835331	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1003628	39835331	131279736	993	84774											
DAAM2	23500	broad.mit.edu	37	chr6	39847122	39847122	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccgactcccccaggtgccCcaccttgcctcggcatgggc	10	21	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:39847122C>A	uc003oow.2	+	14	1870	c.1714C>A	c.(1714-1716)CCA>ACA	p.P572T	DAAM2_uc010jxc.2_Missense_Mutation_p.P572T|DAAM2_uc003oox.2_Missense_Mutation_p.P572T	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	572	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCCAGGTGCCCCACCTTGCCT	0.463													A	39847122	C	A	39847122	3	1	158	1	0	0	0	0	1	0	0	0	4216	623	22	5	1764	5	DAAM2	6	39847122	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	11791	39847122	131267945	994	84775											
UNC5CL	222643	broad.mit.edu	37	chr6	41000848	41000848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcagccatttgcgggcttCgcgccccacaggtgcctcca	11	17	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:41000848C>T	uc003opi.2	-	4	813	c.724G>A	c.(724-726)GAA>AAA	p.E242K		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	unc-5 homolog C-like	242	Cytoplasmic (Potential).|Interaction with RELA and NFKB1.				signal transduction	cytoplasm|integral to membrane				ovary(2)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTGCGGGCTTCGCGCCCCACA	0.602													T	41000848	C	T	41000848	3	4	158	1	0	0	0	0	1	0	0	0	16991	893	31	1	856	1	UNC5CL	6	41000848	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1153726	41000848	130114219	995	84776											
NFYA	4800	broad.mit.edu	37	chr6	41048625	41048625	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggccagcaagtccagAccctccaggtagtggtaccc	10	16	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:41048625A>G	uc003opo.2	+	3	329	c.151A>G	c.(151-153)ACC>GCC	p.T51A	NFYA_uc003opp.2_Intron|NFYA_uc003opq.2_Intron	NM_002505	NP_002496	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha isoform 1	51	Gln-rich.				transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAAGTCCAGACCCTCCAGGT	0.552													G	41048625	A	G	41048625	3	3	158	1	0	0	0	0	1	0	0	0	10389	275	10	3	157	3	NFYA	6	41048625	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	47777	41048625	130066442	996	84777											
GNMT	27232	broad.mit.edu	37	chr6	42930824	42930824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcaggggaccagagtgagCaccggctggcgctgaaaaac	15	11	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:42930824C>T	uc003otd.2	+	4	472	c.466C>T	c.(466-468)CAC>TAC	p.H156Y	uc003ote.1_5'Flank	NM_018960	NP_061833	Q14749	GNMT_HUMAN	glycine N-methyltransferase	156					protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process		folic acid binding|glycine binding|glycine N-methyltransferase activity				0	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	CCAGAGTGAGCACCGGCTGGC	0.622													T	42930824	C	T	42930824	3	4	158	1	0	0	0	0	1	0	0	0	6540	710	25	2	480	2	GNMT	6	42930824	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1882199	42930824	128184243	997	84778											
GNMT	27232	broad.mit.edu	37	chr6	42931117	42931117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgatagtgaacaacaagGcccacatggtgaccctggac	11	11	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:42931117G>A	uc003otd.2	+	5	652	c.646G>A	c.(646-648)GCC>ACC	p.A216T	uc003ote.1_5'Flank	NM_018960	NP_061833	Q14749	GNMT_HUMAN	glycine N-methyltransferase	216					protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process		folic acid binding|glycine binding|glycine N-methyltransferase activity				0	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	GAACAACAAGGCCCACATGGT	0.597													A	42931117	G	A	42931117	3	1	158	1	0	0	0	0	1	0	0	0	6540	1203	42	2	664	2	GNMT	6	42931117	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	293	42931117	128183950	998	84779											
CUL7	9820	broad.mit.edu	37	chr6	43010844	43010844	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacggcccgccaacagcgcgTcaggtttctcatgatgctgc	11	15	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:43010844T>C	uc003otq.2	-	18	3733	c.3430A>G	c.(3430-3432)ACG>GCG	p.T1144A	CUL7_uc010jyg.2_Missense_Mutation_p.T423A|CUL7_uc011dvb.1_Missense_Mutation_p.T1228A|CUL7_uc010jyh.2_Missense_Mutation_p.T137A|KLC4_uc003otr.1_RNA	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	1144					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CAACAGCGCGTCAGGTTTCTC	0.587													C	43010844	T	C	43010844	3	2	158	1	0	0	0	0	1	0	0	0	4060	1667	58	3	1702	3	CUL7	6	43010844	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	79727	43010844	128104223	999	84780											
CUL7	9820	broad.mit.edu	37	chr6	43013343	43013343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgctggcagcgctttatGcggatctggatgatgggcca	14	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:43013343G>A	uc003otq.2	-	14	3147	c.2844C>T	c.(2842-2844)CGC>CGT	p.R948R	CUL7_uc010jyg.2_Silent_p.R227R|CUL7_uc011dvb.1_Silent_p.R1032R|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	948	DOC.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGCGCTTTATGCGGATCTGGA	0.622													A	43013343	G	A	43013343	2	1	158	1	0	0	0	0	0	0	0	1	4060	1306	46	2		2	CUL7	6	43013343	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2499	43013343	128101724	1000	84781											
CUL9	23113	broad.mit.edu	37	chr6	43160803	43160803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggagagaagatggtggtcGtgcaggccctgcgcctcctt	16	10	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:43160803G>A	uc003ouk.2	+	9	2320	c.2245G>A	c.(2245-2247)GTG>ATG	p.V749M	CUL9_uc003oul.2_Missense_Mutation_p.V749M|CUL9_uc010jyk.2_Translation_Start_Site	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	749					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GATGGTGGTCGTGCAGGCCCT	0.582													A	43160803	G	A	43160803	3	1	158	1	0	0	0	0	1	0	0	0	4061	1145	40	1	2275	1	CUL9	6	43160803	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	147460	43160803	127954264	1001	84782											
CUL9	23113	broad.mit.edu	37	chr6	43174137	43174137	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatttctatactggtcctgTcaccacgctgctggcccgtc	8	16	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:43174137T>C	uc003ouk.2	+	26	5176	c.5101T>C	c.(5101-5103)TCA>CCA	p.S1701P	CUL9_uc003oul.2_Missense_Mutation_p.S1701P|CUL9_uc010jyk.2_Missense_Mutation_p.S853P	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1701					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						ACTGGTCCTGTCACCACGCTG	0.498													C	43174137	T	C	43174137	3	2	158	1	0	0	0	0	1	0	0	0	4061	1667	58	3	5199	3	CUL9	6	43174137	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	13334	43174137	127940930	1002	84783											
TTBK1	84630	broad.mit.edu	37	chr6	43250478	43250478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcaggtgttctccgtggCgcccccatttgaggtgaatg	13	11	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:43250478C>T	uc003ouq.1	+	14	2279	c.2000C>T	c.(1999-2001)GCG>GTG	p.A667V		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	667						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TTCTCCGTGGCGCCCCCATTT	0.612													T	43250478	C	T	43250478	3	4	158	1	0	0	0	0	1	0	0	0	16673	768	27	1	2050	1	TTBK1	6	43250478	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	76341	43250478	127864589	1003	84784											
TTBK1	84630	broad.mit.edu	37	chr6	43252036	43252036	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggccccagcattggacacAgccatcaccagcaggtgaga	12	14	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:43252036A>G	uc003ouq.1	+	14	3837	c.3558A>G	c.(3556-3558)ACA>ACG	p.T1186T		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1186						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CATTGGACACAGCCATCACCA	0.682													G	43252036	A	G	43252036	2	3	158	1	0	0	0	0	0	0	0	1	16673	175	7	3		3	TTBK1	6	43252036	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1558	43252036	127863031	1004	84785											
SLC22A7	10864	broad.mit.edu	37	chr6	43271885	43271885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgcccaagcttacttatGgggggatcgccctgctggct	12	13	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:43271885G>A	uc003out.2	+	10	1594	c.1495G>A	c.(1495-1497)GGG>AGG	p.G499R	SLC22A7_uc003ous.2_Missense_Mutation_p.G497R	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	solute carrier family 22 member 7 isoform b	499	Helical; (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity				0			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GCTTACTTATGGGGGGATCGC	0.662													A	43271885	G	A	43271885	3	1	158	1	0	0	0	0	1	0	0	0	14459	1348	47	4	1529	4	SLC22A7	6	43271885	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	19849	43271885	127843182	1005	84786											
ZNF318	24149	broad.mit.edu	37	chr6	43322761	43322761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcggaggtatccgagctgCagcaaactgagaggcccttg	14	10	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:43322761C>T	uc003oux.2	-	4	2389	c.2311G>A	c.(2311-2313)GCA>ACA	p.A771T	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	771					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ATCCGAGCTGCAGCAAACTGA	0.537													T	43322761	C	T	43322761	3	4	158	1	0	0	0	0	1	0	0	0	17833	710	25	2	4556	2	ZNF318	6	43322761	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	50876	43322761	127792306	1006	84787											
ABCC10	89845	broad.mit.edu	37	chr6	43400685	43400685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggagccactaagccacGgcctgctctatgctctgggg	14	13	2	0	rs140348023	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:43400685G>A	uc003ouy.1	+	3	1182	c.967G>A	c.(967-969)GGC>AGC	p.G323S	ABCC10_uc003ouz.1_Missense_Mutation_p.G280S|ABCC10_uc010jyo.1_5'Flank	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	323	ABC transmembrane type-1 1.|Helical; (Potential).					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			ACTAAGCCACGGCCTGCTCTA	0.587													A	43400685	G	A	43400685	3	1	158	1	0	0	0	0	1	0	0	0	50	1116	39	1	840	1	ABCC10	6	43400685	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	77924	43400685	127714382	1007	84788											
ABCC10	89845	broad.mit.edu	37	chr6	43413629	43413629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccactgtatagccatctggCcgataccttggctggcctct	9	14	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:43413629C>T	uc003ouy.1	+	15	3538	c.3323C>T	c.(3322-3324)GCC>GTC	p.A1108V	ABCC10_uc003ouz.1_Missense_Mutation_p.A1080V|ABCC10_uc010jyo.1_Missense_Mutation_p.A214V	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	1108	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGCCATCTGGCCGATACCTTG	0.627													T	43413629	C	T	43413629	3	4	158	1	0	0	0	0	1	0	0	0	50	739	26	2	3289	2	ABCC10	6	43413629	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	12944	43413629	127701438	1008	84789											
HSP90AB1	3326	broad.mit.edu	37	chr6	44218839	44218839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattgctatttattcctcgtCgggctccctttgaccttttt	6	12	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:44218839C>T	uc003oxa.1	+	7	1096	c.1012C>T	c.(1012-1014)CGG>TGG	p.R338W	HSP90AB1_uc011dvr.1_Missense_Mutation_p.R328W|HSP90AB1_uc003oxb.1_Missense_Mutation_p.R338W|HSP90AB1_uc011dvs.1_Missense_Mutation_p.R158W|HSP90AB1_uc003oxc.1_5'UTR	NM_007355	NP_031381	P08238	HS90B_HUMAN	heat shock 90kDa protein 1, beta	338					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			lung(3)|breast(1)	4	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TATTCCTCGTCGGGCTCCCTT	0.408													T	44218839	C	T	44218839	3	4	158	1	0	0	0	0	1	0	0	0	7402	875	31	1	1034	1	HSP90AB1	6	44218839	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	805210	44218839	126896228	1009	84790											
AARS2	57505	broad.mit.edu	37	chr6	44268923	44268923	+	Frame_Shift_Del	DEL	C	C	-													tgacaggcacacagcaccttCcccatgggctgggggctgag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:44268922_44268922TC>T	uc010jza.1	-	20	2767	c.2764_2764GA>A	c.(2764-2766)aagfs	p.K922fs	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	922					alanyl-tRNA aminoacylation	mitochondrion	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CACAGCACCTTCCCCATGGGC	0.612													-	44268923	C	-	44268923	7	5	158	1	0	1	0	1	0	0	0	0	20	842	30	0	202	0	AARS2	6	44268923	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	50084	44268923	126846144	1010	84791											
RUNX2	860	broad.mit.edu	37	chr6	45514719	45514719	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccctcggtatgtccgccAccactcactaccacacctac	5	19	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:45514719A>G	uc011dvx.1	+	9	1453	c.1243A>G	c.(1243-1245)ACC>GCC	p.T415A	RUNX2_uc011dvy.1_Missense_Mutation_p.T393A|RUNX2_uc003oxt.2_Missense_Mutation_p.T401A	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	runt-related transcription factor 2 isoform a	415	Interaction with MYST3 (By similarity).|Pro/Ser/Thr-rich.|Interaction with MYST4.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3						TATGTCCGCCACCACTCACTA	0.582													G	45514719	A	G	45514719	3	3	158	1	0	0	0	0	1	0	0	0	13748	159	6	3	1289	3	RUNX2	6	45514719	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1245796	45514719	125600348	1011	84792											
TFAP2B	7021	broad.mit.edu	37	chr6	50791415	50791415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctcctgccccagcctcGggccgccttgccccagctct	8	22	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:50791415G>A	uc003pag.2	+	2	543	c.377G>A	c.(376-378)CGG>CAG	p.R126Q		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	126	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					CCCCAGCCTCGGGCCGCCTTG	0.701													A	50791415	G	A	50791415	3	1	158	1	0	0	0	0	1	0	0	0	15785	1116	39	1	383	1	TFAP2B	6	50791415	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	5276696	50791415	120323652	1012	84793											
PKHD1	5314	broad.mit.edu	37	chr6	51613383	51613383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatatgatccaggatcctgCtgacacattactgaattcaa	7	9	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:51613383C>T	uc003pah.1	-	58	9307	c.9031G>A	c.(9031-9033)GCA>ACA	p.A3011T	PKHD1_uc010jzn.1_Missense_Mutation_p.A994T|PKHD1_uc003pai.2_Missense_Mutation_p.A3011T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3011	Extracellular (Potential).|PbH1 7.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CAGGATCCTGCTGACACATTA	0.423													T	51613383	C	T	51613383	3	4	158	1	0	0	0	0	1	0	0	0	11971	797	28	2	3272	2	PKHD1	6	51613383	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	821968	51613383	119501684	1013	84794											
PKHD1	5314	broad.mit.edu	37	chr6	51735403	51735403	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatcagttcccatcttttaGgagttttaatcccagatgac	6	11	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:51735403G>T	uc003pah.1	-	47	7661	c.7385C>A	c.(7384-7386)CCT>CAT	p.P2462H	PKHD1_uc010jzn.1_Missense_Mutation_p.P445H|PKHD1_uc003pai.2_Missense_Mutation_p.P2462H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2462	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CCATCTTTTAGGAGTTTTAAT	0.358													T	51735403	G	T	51735403	3	4	158	1	0	0	0	0	1	0	0	0	11971	1000	35	5	4962	5	PKHD1	6	51735403	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	122020	51735403	119379664	1014	84795											
MCM3	4172	broad.mit.edu	37	chr6	52147553	52147553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagctgccttccagtcctaCgtagaactcctcatactgct	6	14	1	1	rs146219216	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:52147553C>T	uc003pan.1	-	3	408	c.298G>A	c.(298-300)GTA>ATA	p.V100I	MCM3_uc011dwu.1_Missense_Mutation_p.V54I	NM_002388	NP_002379	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	100					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)|lung(1)|skin(1)	3	Lung NSC(77;0.0931)					TCCAGTCCTACGTAGAACTCC	0.537													T	52147553	C	T	52147553	3	4	158	1	0	0	0	0	1	0	0	0	9387	536	19	1	2188	1	MCM3	6	52147553	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	412150	52147553	118967514	1015	84796											
HCRTR2	3062	broad.mit.edu	37	chr6	55039411	55039411	+	Frame_Shift_Del	DEL	C	C	-													cggcaccaaattggaggactCccccccttgtcgcaactggt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:55039410_55039410TC>T	uc003pcl.3	+	0	340	c.25_25TC>T	c.(25-27)tccfs	p.S9fs	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTG	0.562													-	55039411	C	-	55039411	7	5	158	1	0	1	0	1	0	0	0	0	7002	855	30	0	28	0	HCRTR2	6	55039411	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	2891858	55039411	116075656	1016	84797											
DST	667	broad.mit.edu	37	chr6	56505071	56505071	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaacttcaaagtttgcAatgaatttggctctactcct	6	10	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:56505071A>G	uc003pdf.2	-	17	2289	c.2261T>C	c.(2260-2262)TTG>TCG	p.L754S	DST_uc003pcz.3_Missense_Mutation_p.L576S|DST_uc011dxj.1_Missense_Mutation_p.L605S|DST_uc011dxk.1_Missense_Mutation_p.L616S|DST_uc011dxl.1_Missense_Mutation_p.L605S|DST_uc003pcy.3_Missense_Mutation_p.L250S|DST_uc003pdb.2_Missense_Mutation_p.L250S|DST_uc003pdc.3_Missense_Mutation_p.L250S|DST_uc003pdd.3_Missense_Mutation_p.L250S|DST_uc003pde.2_Missense_Mutation_p.L692S	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	576					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)			CAAAGTTTGCAATGAATTTGG	0.393													G	56505071	A	G	56505071	3	3	158	1	0	0	0	0	1	0	0	0	4783	131	5	3	19730	3	DST	6	56505071	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1465660	56505071	114609996	1017	84798											
PHF3	23469	broad.mit.edu	37	chr6	64394097	64394098	+	Frame_Shift_Ins	INS	-	-	A													cagcaccattaagtaacacaINSaaaaaagcatctgggaagac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:64394096_64394097C>CA	uc003pep.1	+	2	498_499	c.473_474C>CA	c.(472-474)acafs	p.T158fs	PHF3_uc010kaf.1_Frame_Shift_Ins_p.T158fs|PHF3_uc003pem.2_Frame_Shift_Ins_p.T111fs|PHF3_uc010kag.1_Frame_Shift_Ins_p.T70fs|PHF3_uc010kah.1_5'UTR|PHF3_uc003pen.2_Frame_Shift_Ins_p.T70fs|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Frame_Shift_Ins_p.T158fs	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	158					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTAAGTAACACAAAAAAAGCAT	0.381													A	64394098	-	A	64394097	7	5	158	1	0	1	1	0	0	0	0	0	11836	117	5	0	484	0	PHF3	6	64394097	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	7889026	64394097	106720970	1018	84799											
PHF3	23469	broad.mit.edu	37	chr6	64410295	64410295	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgatcatcttatcagaaTgagtccagaagaactagctt	7	9	3	5			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:64410295T>C	uc003pep.1	+	8	3064	c.3038T>C	c.(3037-3039)ATG>ACG	p.M1013T	PHF3_uc010kah.1_Missense_Mutation_p.M827T|PHF3_uc003pen.2_Missense_Mutation_p.M925T|PHF3_uc011dxs.1_Missense_Mutation_p.M282T	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1013	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CTTATCAGAATGAGTCCAGAA	0.323													C	64410295	T	C	64410295	3	2	158	1	0	0	0	0	1	0	0	0	11836	1464	51	3	3068	3	PHF3	6	64410295	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	16198	64410295	106704772	1019	84800											
BAI3	577	broad.mit.edu	37	chr6	70071100	70071100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgactatattgtgatgcCcagaagttctgtaaataacc	8	7	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:70071100C>T	uc003pev.3	+	29	4383	c.3935C>T	c.(3934-3936)CCC>CTC	p.P1312L	BAI3_uc010kak.2_Missense_Mutation_p.P1312L|BAI3_uc011dxx.1_Missense_Mutation_p.P518L	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1312	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				ATTGTGATGCCCAGAAGTTCT	0.393													T	70071100	C	T	70071100	3	4	158	1	0	0	0	0	1	0	0	0	1300	623	22	4	4041	4	BAI3	6	70071100	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	5660805	70071100	101043967	1020	84801											
COL9A1	1297	broad.mit.edu	37	chr6	70942395	70942395	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagggccggggggaccAggagggccaggccttccagg	20	12	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:70942395A>G	uc003pfg.3	-	36	2553	c.2394T>C	c.(2392-2394)CCT>CCC	p.P798P	COL9A1_uc003pfe.3_Silent_p.P347P|COL9A1_uc003pff.3_Silent_p.P555P	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	798	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						CGGGGGGACCAGGAGGGCCAG	0.572													G	70942395	A	G	70942395	2	3	158	1	0	0	0	0	0	0	0	1	3707	175	7	3		3	COL9A1	6	70942395	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	871295	70942395	100172672	1021	84802											
FAM135A	57579	broad.mit.edu	37	chr6	71236346	71236346	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccaagcagtacttcttacAacttcacttcttcgatttcc	4	13	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:71236346A>G	uc003pfj.2	+	13	3692	c.3559A>G	c.(3559-3561)AAC>GAC	p.N1187D	FAM135A_uc003pfi.2_Missense_Mutation_p.N991D|FAM135A_uc003pfh.2_Missense_Mutation_p.N974D|FAM135A_uc003pfl.2_Missense_Mutation_p.N854D|FAM135A_uc003pfn.2_Missense_Mutation_p.N393D|FAM135A_uc003pfo.1_Missense_Mutation_p.N558D|FAM135A_uc010kan.1_5'Flank	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	1187										central_nervous_system(1)	1						TACTTCTTACAACTTCACTTC	0.373													G	71236346	A	G	71236346	3	3	158	1	0	0	0	0	1	0	0	0	5448	130	5	3	3687	3	FAM135A	6	71236346	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	293951	71236346	99878721	1022	84803											
KCNQ5	56479	broad.mit.edu	37	chr6	73332154	73332154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcctgagggagagccgCcggggcaagcagggggcccg	22	11	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:73332154C>T	uc003pgk.2	+	1	584	c.237C>T	c.(235-237)CGC>CGT	p.R79R	KCNQ5_uc003pgj.3_Silent_p.R79R|KCNQ5_uc011dyh.1_Silent_p.R79R|KCNQ5_uc011dyi.1_Silent_p.R79R|KCNQ5_uc010kat.2_Silent_p.R79R|KCNQ5_uc011dyj.1_Silent_p.R79R|KCNQ5_uc011dyk.1_5'UTR	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	79					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GGGAGAGCCGCCGGGGCAAGC	0.726													T	73332154	C	T	73332154	2	4	158	1	0	0	0	0	0	0	0	1	8086	726	26	2		2	KCNQ5	6	73332154	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2095808	73332154	97782913	1023	84804											
SLC17A5	26503	broad.mit.edu	37	chr6	74351534	74351534	+	Frame_Shift_Del	DEL	C	C	-													ccaaatcctagcagcattttCccccctattttgctggcaac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:74351534delC	uc003phn.3	-	3	533	c.405delG	c.(403-405)GGGfs	p.G135fs	SLC17A5_uc010kay.2_RNA|SLC17A5_uc011dyo.1_Frame_Shift_Del_p.E34fs	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	sialin	135					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			skin(5)|central_nervous_system(1)	6						GCAGCATTTTCCCCCCTATTT	0.468													-	74351534	C	-	74351534	7	5	158	1	0	1	0	1	0	0	0	0	14420	842	30	0	1118	0	SLC17A5	6	74351534	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	1019380	74351534	96763533	1024	84805											
COL12A1	1303	broad.mit.edu	37	chr6	75851781	75851781	+	Frame_Shift_Del	DEL	C	C	-													agcagtcactggaggagactCcccctcgtcatgtactgcag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:75851780_75851780TC>T	uc021zbv.1	-	25	4960	c.4925_4925GA>A	c.(4924-4926)gagfs	p.E1642fs	COL12A1_uc021zbw.1_Frame_Shift_Del_p.E478fs|COL12A1_uc003phs.3_Frame_Shift_Del_p.E1642fs|COL12A1_uc003pht.3_Frame_Shift_Del_p.E478fs	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1642	Fibronectin type-III 11.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.E1642*(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGGAGGAGACTCCCCCTCGTC	0.483													-	75851781	C	-	75851781	7	5	158	1	0	1	0	1	0	0	0	0	3669	864	30	0	4427	0	COL12A1	6	75851781	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	1500247	75851781	95263286	1025	84806											
FILIP1	27145	broad.mit.edu	37	chr6	76124616	76124616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttttttcaccagcattgcCgatgatggagggcttgggac	12	9	1	1	rs112240066		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:76124616C>T	uc003pia.2	-	2	446	c.73G>A	c.(73-75)GGC>AGC	p.G25S	FILIP1_uc003phy.1_Missense_Mutation_p.G25S|FILIP1_uc010kbe.2_Missense_Mutation_p.G28S	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	25										skin(3)|ovary(1)	4						CCAGCATTGCCGATGATGGAG	0.433													T	76124616	C	T	76124616	3	4	158	1	0	0	0	0	1	0	0	0	5894	652	23	1	3588	1	FILIP1	6	76124616	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	272835	76124616	94990451	1026	84807											
MYO6	4646	broad.mit.edu	37	chr6	76608118	76608118	+	Frame_Shift_Del	DEL	T	T	-													tggccaaagaaatgtcagaaTttttgagtaggttagtgcag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:76608118delT	uc003pih.1	+	30	3445	c.3166delT	c.(3166-3168)TTTfs	p.F1056fs	MYO6_uc003pig.1_Intron|MYO6_uc003pii.1_Intron|MYO6_uc003pij.1_Frame_Shift_Del_p.F13fs	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1065					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AATGTCAGAATTTTTGAGTAG	0.279													-	76608118	T	-	76608118	7	5	158	1	0	1	0	1	0	0	0	0	10081	1493	52	0	3280	0	MYO6	6	76608118	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	483502	76608118	94506949	1027	84808											
LCA5	167691	broad.mit.edu	37	chr6	80197085	80197085	+	Frame_Shift_Del	DEL	A	A	-													tactgtttctttggaaatccAaaaaactacttttttgacta							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:80197084_80197084CA>C	uc003piy.3	-	8	2343	c.1731_1731TG>G	c.(1729-1731)ttgfs	p.L577fs	LCA5_uc003pix.3_Frame_Shift_Del_p.L577fs	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	577					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTTGGAAATCCAAAAAACTAC	0.353													-	80197085	A	-	80197085	7	5	158	1	0	1	0	1	0	0	0	0	8656	131	5	0	367	0	LCA5	6	80197085	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	3588967	80197085	90917982	1028	84809											
TTK	7272	broad.mit.edu	37	chr6	80721602	80721602	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctttcaaaatatttttaGtcatgcccatttggaagagt	6	6	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:80721602G>A	uc003pjc.2	+	8	876	c.802_splice	c.e8-1	p.S268_splice	TTK_uc003pjb.3_Splice_Site_p.S268_splice	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase						mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AATATTTTTAGTCATGCCCAT	0.333													A	80721602	G	A	80721602	5	1	158	1	0	0	0	0	0	0	1	0	16717	1043	36	4	827	4	TTK	6	80721602	Splice_Site	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	524517	80721602	90393465	1029	84810											
PGM3	5238	broad.mit.edu	37	chr6	83900647	83900647	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatgttctgccttcgttcGaaatccagcagtcccgtatt	8	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:83900647G>A	uc003pjv.2	-	2	125	c.85C>T	c.(85-87)CGA>TGA	p.R29*	PGM3_uc003pjw.2_Intron|PGM3_uc011dyz.1_Nonsense_Mutation_p.R57*|RWDD2A_uc003pjx.3_5'Flank|RWDD2A_uc011dza.1_5'Flank	NM_015599	NP_056414	O95394	AGM1_HUMAN	phosphoglucomutase 3	29					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GCCTTCGTTCGAAATCCAGCA	0.413													A	83900647	G	A	83900647	4	1	158	1	0	0	0	0	0	1	0	0	11800	1066	37	1	1591	1	PGM3	6	83900647	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3179045	83900647	87214420	1030	84811											
RWDD2A	112611	broad.mit.edu	37	chr6	83905457	83905457	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacatagggacttttgatccAggtgagctctgtgtatgtgc	12	7	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:83905457A>G	uc003pjx.3	+	3	616	c.345A>G	c.(343-345)CCA>CCG	p.P115P	PGM3_uc003pjv.2_5'Flank|PGM3_uc003pjw.2_5'Flank|PGM3_uc011dyz.1_5'Flank|RWDD2A_uc011dza.1_Silent_p.P40P	NM_033411	NP_219479	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	115	RWD.										0		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		CTTTTGATCCAGGTGAGCTCT	0.438													G	83905457	A	G	83905457	2	3	158	1	0	0	0	0	0	0	0	1	13755	175	7	3		3	RWDD2A	6	83905457	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	4810	83905457	87209610	1031	84812											
KIAA1009	22832	broad.mit.edu	37	chr6	84862646	84862646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttactaatttagctttagCatgagcctgttccacctgga	7	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:84862646C>T	uc010kbp.2	-	23	3344	c.3247G>A	c.(3247-3249)GCT>ACT	p.A1083T	KIAA1009_uc003pkj.3_Missense_Mutation_p.A1007T|KIAA1009_uc003pki.3_Missense_Mutation_p.A469T	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	1083	Potential.				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTAGCTTTAGCATGAGCCTGT	0.368													T	84862646	C	T	84862646	3	4	158	1	0	0	0	0	1	0	0	0	8203	710	25	2	984	2	KIAA1009	6	84862646	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	957189	84862646	86252421	1032	84813											
SNX14	57231	broad.mit.edu	37	chr6	86223788	86223788	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacattagaaaatacaaacCtctgagaagtgttatgagtg	8	6	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:86223788C>A	uc003pkr.2	-	25	2750	c.2557G>T	c.(2557-2559)GAT>TAT	p.D853Y	SNX14_uc003pkp.2_Missense_Mutation_p.D716Y|SNX14_uc003pkq.2_Missense_Mutation_p.D459Y|SNX14_uc011dzg.1_Missense_Mutation_p.D801Y|SNX14_uc003pks.2_Missense_Mutation_p.D800Y|SNX14_uc003pkt.2_Missense_Mutation_p.D844Y	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	853					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		AAATACAAACCTCTGAGAAGT	0.318													A	86223788	C	A	86223788	3	1	158	1	0	0	0	0	1	0	0	0	14885	695	24	5	303	5	SNX14	6	86223788	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1361142	86223788	84891279	1033	84814											
SYNCRIP	10492	broad.mit.edu	37	chr6	86329093	86329093	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgccttttctaaaatctcttCtgttacagtattggcaaggt	7	8	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:86329093C>A	uc003pla.2	-	9	1592	c.1051G>T	c.(1051-1053)GAA>TAA	p.E351*	SYNCRIP_uc003pku.2_Nonsense_Mutation_p.E351*|SYNCRIP_uc003pkw.2_Nonsense_Mutation_p.E316*|SYNCRIP_uc003pky.2_Nonsense_Mutation_p.E253*|SYNCRIP_uc003pkv.2_Nonsense_Mutation_p.E351*|SYNCRIP_uc003pkx.2_Nonsense_Mutation_p.E199*|SYNCRIP_uc003pkz.2_Nonsense_Mutation_p.E316*	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA	351	RRM 3.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			ovary(2)	2		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		AAAATCTCTTCTGTTACAGTA	0.388													A	86329093	C	A	86329093	4	1	158	1	0	0	0	0	0	1	0	0	15441	922	32	5	878	5	SYNCRIP	6	86329093	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	105305	86329093	84785974	1034	84815											
ZNF292	23036	broad.mit.edu	37	chr6	87965428	87965428	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaaaaagggctttaagtActttaaaaatttaattgctc	6	4	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:87965428A>G	uc003plm.3	+	8	2122	c.2081A>G	c.(2080-2082)TAC>TGC	p.Y694C		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	694	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGCTTTAAGTACTTTAAAAAT	0.353													G	87965428	A	G	87965428	3	3	158	1	0	0	0	0	1	0	0	0	17823	391	14	3	2111	3	ZNF292	6	87965428	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1636335	87965428	83149639	1035	84816											
CNR1	1268	broad.mit.edu	37	chr6	88853738	88853738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgttatccagaggctgcGcagtgccttcacaagaggga	13	10	1	2	rs78783387		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:88853738G>A	uc011dzq.1	-	2	4819	c.1256C>T	c.(1255-1257)GCG>GTG	p.A419V	CNR1_uc010kbz.2_Missense_Mutation_p.A419V|CNR1_uc011dzr.1_Missense_Mutation_p.A419V|CNR1_uc011dzs.1_Missense_Mutation_p.A419V|CNR1_uc003pmq.3_Missense_Mutation_p.A419V|CNR1_uc011dzt.1_Missense_Mutation_p.A419V|CNR1_uc010kca.2_Missense_Mutation_p.A386V	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	419	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CAGAGGCTGCGCAGTGCCTTC	0.562													A	88853738	G	A	88853738	3	1	158	1	0	0	0	0	1	0	0	0	3631	1087	38	1	166	1	CNR1	6	88853738	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	888310	88853738	82261329	1036	84817											
CNR1	1268	broad.mit.edu	37	chr6	88853864	88853864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgcagaatgcaaacaccGtcttaatgagcttgttcatc	7	10	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:88853864G>A	uc011dzq.1	-	2	4693	c.1130C>T	c.(1129-1131)ACG>ATG	p.T377M	CNR1_uc010kbz.2_Missense_Mutation_p.T377M|CNR1_uc011dzr.1_Missense_Mutation_p.T377M|CNR1_uc011dzs.1_Missense_Mutation_p.T377M|CNR1_uc003pmq.3_Missense_Mutation_p.T377M|CNR1_uc011dzt.1_Missense_Mutation_p.T377M|CNR1_uc010kca.2_Missense_Mutation_p.T344M	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	377	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGCAAACACCGTCTTAATGAG	0.522													A	88853864	G	A	88853864	3	1	158	1	0	0	0	0	1	0	0	0	3631	1145	40	1	292	1	CNR1	6	88853864	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	126	88853864	82261203	1037	84818											
GABRR2	2570	broad.mit.edu	37	chr6	90009487	90009487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagtcctacctccgaaggCgggtctcatgctgaagtcgt	11	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:90009487C>T	uc003pnb.2	-	2	294	c.286G>A	c.(286-288)GCC>ACC	p.A96T		NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2	96	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		CCTCCGAAGGCGGGTCTCATG	0.562													T	90009487	C	T	90009487	3	4	158	1	0	0	0	0	1	0	0	0	6177	768	27	1	1218	1	GABRR2	6	90009487	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1155623	90009487	81105580	1038	84819											
ANKRD6	22881	broad.mit.edu	37	chr6	90276717	90276717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagccagcaagatgcggtcGctgcactttcagagcgcctt	12	12	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:90276717G>A	uc003pni.3	+	2	363	c.22G>A	c.(22-24)GCT>ACT	p.A8T	ANKRD6_uc003pne.3_Missense_Mutation_p.A8T|ANKRD6_uc003pnf.3_Missense_Mutation_p.A8T|ANKRD6_uc011dzy.1_Missense_Mutation_p.A8T|ANKRD6_uc010kcd.2_Missense_Mutation_p.A8T	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	8							protein binding			ovary(2)|pancreas(1)	3		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		AGATGCGGTCGCTGCACTTTC	0.537													A	90276717	G	A	90276717	3	1	158	1	0	0	0	0	1	0	0	0	685	1087	38	1	24	1	ANKRD6	6	90276717	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	267230	90276717	80838350	1039	84820											
MANEA	79694	broad.mit.edu	37	chr6	96054112	96054112	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttttaatgagtggcatgAaggaactcagattgaaaaag	10	5	2	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:96054112A>C	uc003poo.1	+	5	1360	c.1220A>C	c.(1219-1221)GAA>GCA	p.E407A		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	407	Catalytic (Probable).|Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		GAGTGGCATGAAGGAACTCAG	0.433													C	96054112	A	C	96054112	3	2	158	1	0	0	0	0	1	0	0	0	9221	246	9	5	1234	5	MANEA	6	96054112	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	5777395	96054112	75060955	1040	84821											
SIM1	6492	broad.mit.edu	37	chr6	100896023	100896023	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagggtggcgccttacgCaaatggtgcgcgcagcgcag	18	11	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:100896023C>T	uc003pqj.3	-	7	1056	c.849G>A	c.(847-849)TTG>TTA	p.L283L	SIM1_uc010kcu.2_Silent_p.L283L	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	283	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GCGCCTTACGCAAATGGTGCG	0.617													T	100896023	C	T	100896023	2	4	158	1	0	0	0	0	0	0	0	1	14323	724	25	2		2	SIM1	6	100896023	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	4841911	100896023	70219044	1041	84822											
ASCC3	10973	broad.mit.edu	37	chr6	100957932	100957932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taatatcaaaaaccatccttCgtcttttgatttgggaaatc	5	8	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:100957932C>T	uc003pqk.2	-	41	6666	c.6337G>A	c.(6337-6339)GAA>AAA	p.E2113K		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	2113	SEC63 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AACCATCCTTCGTCTTTTGAT	0.353													T	100957932	C	T	100957932	3	4	158	1	0	0	0	0	1	0	0	0	1033	893	31	1	279	1	ASCC3	6	100957932	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	61909	100957932	70157135	1042	84823											
MICAL1	64780	broad.mit.edu	37	chr6	109772894	109772894	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtacacaatgttctccAgatcaatgcctgggggtaca	10	9	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:109772894A>C	uc003ptj.2	-	6	1096	c.842T>G	c.(841-843)CTG>CGG	p.L281R	MICAL1_uc003ptk.2_Missense_Mutation_p.L281R|MICAL1_uc010kdr.2_Missense_Mutation_p.L281R|MICAL1_uc011eaq.1_Missense_Mutation_p.L300R	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	281					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AATGTTCTCCAGATCAATGCC	0.557													C	109772894	A	C	109772894	3	2	158	1	0	0	0	0	1	0	0	0	9569	188	7	5	2437	5	MICAL1	6	109772894	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	8814962	109772894	61342173	1043	84824											
FIG4	9896	broad.mit.edu	37	chr6	110083385	110083385	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaccgccctgattcttacTgtagcattttgcggccagat	8	11	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:110083385T>C	uc003ptt.2	+	12	1578	c.1363T>C	c.(1363-1365)TGT>CGT	p.C455R	FIG4_uc011eau.1_Missense_Mutation_p.C178R	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	455	SAC.				cell death	endosome membrane	protein binding			ovary(1)	1		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TGATTCTTACTGTAGCATTTT	0.353													C	110083385	T	C	110083385	3	2	158	1	0	0	0	0	1	0	0	0	5888	1580	55	3	1409	3	FIG4	6	110083385	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	310491	110083385	61031682	1044	84825											
CDC40	51362	broad.mit.edu	37	chr6	110540593	110540593	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatatcaagatttacaaacCgaaaagtaccttattgtgtc	6	7	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:110540593C>T	uc003pua.2	+	11	1141	c.1117C>T	c.(1117-1119)CGA>TGA	p.R373*		NM_015891	NP_056975	O60508	PRP17_HUMAN	cell division cycle 40 homolog	373	WD 3.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm					0		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		ATTTACAAACCGAAAAGTACC	0.323													T	110540593	C	T	110540593	4	4	158	1	0	0	0	0	0	1	0	0	3070	644	23	1	1159	1	CDC40	6	110540593	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	457208	110540593	60574474	1045	84826											
CDK19	23097	broad.mit.edu	37	chr6	110991683	110991683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccataccttcctgtcaCtgtgagaaaggaacaccttc	8	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:110991683C>T	uc003puh.1	-	3	339	c.266G>A	c.(265-267)AGT>AAT	p.S89N	CDK19_uc003pui.1_Missense_Mutation_p.S29N	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	cell division cycle 2-like 6 (CDK8-like)	89	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						CTTCCTGTCACTGTGAGAAAG	0.413													T	110991683	C	T	110991683	3	4	158	1	0	0	0	0	1	0	0	0	3135	565	20	4	1286	4	CDK19	6	110991683	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	451090	110991683	60123384	1046	84827											
WISP3	8838	broad.mit.edu	37	chr6	112385971	112385971	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagaccttgtagctgtTgggtgcgagttcaaccaggt	12	8	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:112385971T>C	uc003pvm.2	+	4	470	c.360T>C	c.(358-360)GTT>GTC	p.V120V	WISP3_uc003pvn.2_RNA|WISP3_uc003pvo.2_Silent_p.V138V	NM_003880	NP_003871	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	120					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding				0		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TTGTAGCTGTTGGGTGCGAGT	0.453													C	112385971	T	C	112385971	2	2	158	1	0	0	0	0	0	0	0	1	17371	1799	63	3		3	WISP3	6	112385971	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1394288	112385971	58729096	1047	84828											
LAMA4	3910	broad.mit.edu	37	chr6	112462050	112462050	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctcccgaaaattcccccTttttaatgaacttttcctct	2	14	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:112462050T>C	uc003pvu.2	-	22	3197	c.2888A>G	c.(2887-2889)AAG>AGG	p.K963R	LAMA4_uc003pvv.2_Missense_Mutation_p.K956R|LAMA4_uc003pvt.2_Missense_Mutation_p.K956R	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	963	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AAATTCCCCCTTTTTAATGAA	0.438													C	112462050	T	C	112462050	3	2	158	1	0	0	0	0	1	0	0	0	8608	1609	56	3	2655	3	LAMA4	6	112462050	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	76079	112462050	58653017	1048	84829											
LAMA4	3910	broad.mit.edu	37	chr6	112508695	112508695	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatttcattcacgtgcctaTgagcggcggccccagaggat	12	11	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:112508695T>C	uc003pvu.2	-	8	1232	c.923A>G	c.(922-924)CAT>CGT	p.H308R	LAMA4_uc003pvv.2_Missense_Mutation_p.H301R|LAMA4_uc003pvt.2_Missense_Mutation_p.H301R	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	308	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CACGTGCCTATGAGCGGCGGC	0.557													C	112508695	T	C	112508695	3	2	158	1	0	0	0	0	1	0	0	0	8608	1464	51	3	4676	3	LAMA4	6	112508695	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	46645	112508695	58606372	1049	84830											
NT5DC1	221294	broad.mit.edu	37	chr6	116560165	116560165	+	Frame_Shift_Del	DEL	T	T	-													tcatctaaaaaatggggctcTttttttattgattcagtttt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:116560164_116560164CT>C	uc003pwj.3	+	10	1225	c.1130_1130CT>C	c.(1129-1131)tctfs	p.S377fs	NT5DC1_uc003pwl.3_Frame_Shift_Del_p.S327fs	NM_152729	NP_689942	Q5TFE4	NT5D1_HUMAN	Homo sapiens 5'-nucleotidase domain containing 1 (NT5DC1), mRNA.	377							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AAATGGGGCTCTTTTTTTATT	0.323													-	116560165	T	-	116560165	7	5	158	1	0	1	0	1	0	0	0	0	10690	1596	56	0	1173	0	NT5DC1	6	116560165	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	4051470	116560165	54554902	1050	84831											
TSPYL1	7259	broad.mit.edu	37	chr6	116599992	116599992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatattccttgacaatcagCttgtttctgaagtaggggtt	9	7	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:116599992C>T	uc003pwp.3	-	1	1289	c.1002G>A	c.(1000-1002)AAG>AAA	p.K334K	DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'Flank|DSE_uc003pwr.2_5'Flank|DSE_uc003pws.2_5'Flank	NM_003309	NP_003300	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	334					nucleosome assembly	nucleolus					0		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		TGACAATCAGCTTGTTTCTGA	0.453													T	116599992	C	T	116599992	2	4	158	1	0	0	0	0	0	0	0	1	16656	796	28	2		2	TSPYL1	6	116599992	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	39827	116599992	54515075	1051	84832											
RSPH4A	345895	broad.mit.edu	37	chr6	116949323	116949323	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatgagagtaattatttaCgagcacaaattgcccgaatt	8	6	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:116949323C>T	uc003pxe.2	+	3	1598	c.1453C>T	c.(1453-1455)CGA>TGA	p.R485*	RSPH4A_uc010kee.2_Nonsense_Mutation_p.R485*	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A isoform 1	485					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke					0						TAATTATTTACGAGCACAAAT	0.433									Kartagener_syndrome				T	116949323	C	T	116949323	4	4	158	1	0	0	0	0	0	1	0	0	13706	528	19	1	1463	1	RSPH4A	6	116949323	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	349331	116949323	54165744	1052	84833											
ROS1	6098	broad.mit.edu	37	chr6	117662566	117662566	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtaaactcactgtaccttTaacacataaatatttccacc	2	11	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:117662566T>C	uc003pxp.1	-	29	5098	c.4899A>G	c.(4897-4899)TTA>TTG	p.L1633L	ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1633	Fibronectin type-III 7.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACTGTACCTTTAACACATAAA	0.388			T	GOPC|ROS1	glioblastoma|NSCLC								C	117662566	T	C	117662566	2	2	158	1	0	0	0	0	0	0	0	1	13531	1751	61	3		3	ROS1	6	117662566	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	713243	117662566	53452501	1053	84834											
FAM184A	79632	broad.mit.edu	37	chr6	119300538	119300538	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaaaataccaagcataGcctttccttcatcttctaat	2	11	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:119300538G>T	uc003pyj.2	-	11	2795	c.2447C>A	c.(2446-2448)GCT>GAT	p.A816D	FAM184A_uc003pyk.3_Missense_Mutation_p.A696D|FAM184A_uc003pyl.3_Missense_Mutation_p.A696D	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	816										ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						ACCAAGCATAGCCTTTCCTTC	0.318													T	119300538	G	T	119300538	3	4	158	1	0	0	0	0	1	0	0	0	5511	971	34	5	1007	5	FAM184A	6	119300538	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1637972	119300538	51814529	1054	84835											
LAMA2	3908	broad.mit.edu	37	chr6	129826417	129826418	+	Frame_Shift_Ins	INS	-	-	A													caacagaaccatcagtcccaINSaaaaagccgacatcctggat							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:129826416_129826417C>CA	uc021zfb.1	+	60	8724_8725	c.8619_8620C>CA	c.(8617-8622)cccaaafs	p.P2873fs	LAMA2_uc003qbn.3_Frame_Shift_Ins_p.P2871fs|LAMA2_uc003qbo.3_Frame_Shift_Ins_p.P2867fs|BC035400_uc003qbq.3_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2873	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCATCAGTCCCAAAAAAGCCGA	0.406													A	129826418	-	A	129826417	7	5	158	1	0	1	1	0	0	0	0	0	8606	131	5	0	8862	0	LAMA2	6	129826417	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	10525879	129826417	41288650	1055	84836											
C6orf192	116843	broad.mit.edu	37	chr6	133097497	133097497	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacttaggagaccaaatagTggtgaagagatggcatagga	13	5	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:133097497T>C	uc003qdw.1	-	8	1019	c.867A>G	c.(865-867)CCA>CCG	p.P289P	C6orf192_uc010kgd.1_RNA|C6orf192_uc011eco.1_Silent_p.P163P	NM_052831	NP_439896	Q6NT16	CF192_HUMAN	hypothetical protein LOC116843	289	Helical; (Potential).				transmembrane transport	integral to membrane				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;0.00303)|GBM - Glioblastoma multiforme(226;0.0265)		GACCAAATAGTGGTGAAGAGA	0.373													C	133097497	T	C	133097497	2	2	158	1	0	0	0	0	0	0	0	1	2349	1683	59	3		3	C6orf192	6	133097497	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	3271080	133097497	38017570	1056	84837											
TCF21	6943	broad.mit.edu	37	chr6	134210812	134210812	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgagagcgggcccgcatgCgagtgctgagcaaggccttc	16	13	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:134210812C>T	uc003qei.3	+	1	553	c.277C>T	c.(277-279)CGA>TGA	p.R93*	uc003qeg.1_5'Flank|TCF21_uc003qej.2_Nonsense_Mutation_p.R93*	NM_003206	NP_003197	O43680	TCF21_HUMAN	transcription factor 21	93	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity				0	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		GGCCCGCATGCGAGTGCTGAG	0.687													T	134210812	C	T	134210812	4	4	158	1	0	0	0	0	0	1	0	0	15688	760	27	1	279	1	TCF21	6	134210812	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1113315	134210812	36904255	1057	84838											
MAP3K5	4217	broad.mit.edu	37	chr6	136904865	136904865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgttcccattttagtttcGgttcttcagccccctgtgaa	8	11	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:136904865G>A	uc003qhc.2	-	24	3600	c.3239C>T	c.(3238-3240)CCG>CTG	p.P1080L	MAP3K5_uc011edj.1_Missense_Mutation_p.P327L|MAP3K5_uc011edk.1_Missense_Mutation_p.P926L	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	1080					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)|skin(2)|lung(1)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTTTAGTTTCGGTTCTTCAGC	0.453													A	136904865	G	A	136904865	3	1	158	1	0	0	0	0	1	0	0	0	9253	1116	39	1	913	1	MAP3K5	6	136904865	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2694053	136904865	34210202	1058	84839											
OLIG3	167826	broad.mit.edu	37	chr6	137814991	137814991	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtagggcatgacttcgcgcAgcccgtccatggctaggttc	13	13	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:137814991A>C	uc003qhp.1	-	1	541	c.317T>G	c.(316-318)CTG>CGG	p.L106R		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	106	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GACTTCGCGCAGCCCGTCCAT	0.602													C	137814991	A	C	137814991	3	2	158	1	0	0	0	0	1	0	0	0	10862	188	7	5	505	5	OLIG3	6	137814991	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	910126	137814991	33300076	1059	84840											
OLIG3	167826	broad.mit.edu	37	chr6	137815186	137815186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatatcgccctgcgtggacGagaccgagttgagacggctc	13	12	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:137815186G>A	uc003qhp.1	-	1	346	c.122C>T	c.(121-123)TCG>TTG	p.S41L		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		CTGCGTGGACGAGACCGAGTT	0.512													A	137815186	G	A	137815186	3	1	158	1	0	0	0	0	1	0	0	0	10862	1059	37	1	700	1	OLIG3	6	137815186	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	195	137815186	33299881	1060	84841											
KIAA1244	57221	broad.mit.edu	37	chr6	138491847	138491847	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagatccctccacatgtacTgaggtaggagatggacattg	11	9	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:138491847T>C	uc003qhu.2	+	2	134	c.134T>C	c.(133-135)CTG>CCG	p.L45P		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	45					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCACATGTACTGAGGTAGGAG	0.328													C	138491847	T	C	138491847	3	2	158	1	0	0	0	0	1	0	0	0	8217	1580	55	3	140	3	KIAA1244	6	138491847	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	676661	138491847	32623220	1061	84842											
HIVEP2	3097	broad.mit.edu	37	chr6	143092525	143092525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgggccatggtgccacccGgaccggaggccagcatgcag	17	14	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:143092525G>A	uc003qjd.2	-	5	4094	c.3351C>T	c.(3349-3351)TCC>TCT	p.S1117S		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GGTGCCACCCGGACCGGAGGC	0.657													A	143092525	G	A	143092525	2	1	158	1	0	0	0	0	0	0	0	1	7187	1103	39	1		1	HIVEP2	6	143092525	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4600678	143092525	28022542	1062	84843											
STX11	8676	broad.mit.edu	37	chr6	144508363	144508363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggccgacgtgaagggcgCgcgggccgccctcaacgaga	17	14	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:144508363C>T	uc003qks.3	+	2	791	c.599C>T	c.(598-600)GCG>GTG	p.A200V		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	200				ARAALNEIESRHRELLRLESR -> RGPPTTRSRAATANCC AWRAA (in Ref. 2; AAC24031).|A -> V (in Ref. 1; AAD02107).	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GTGAAGGGCGCGCGGGCCGCC	0.632									Familial_Hemophagocytic_Lymphohistiocytosis				T	144508363	C	T	144508363	3	4	158	1	0	0	0	0	1	0	0	0	15336	768	27	1	601	1	STX11	6	144508363	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1415838	144508363	26606704	1063	84844											
FBXO30	84085	broad.mit.edu	37	chr6	146125877	146125877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccatagtaagctaaaggGcacctctgttccatccagcc	7	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:146125877G>A	uc003qla.2	-	2	1864	c.1665C>T	c.(1663-1665)TGC>TGT	p.C555C	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	555							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		AAGCTAAAGGGCACCTCTGTT	0.413													A	146125877	G	A	146125877	2	1	158	1	0	0	0	0	0	0	0	1	5740	1195	42	2		2	FBXO30	6	146125877	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1617514	146125877	24989190	1064	84845											
AKAP12	9590	broad.mit.edu	37	chr6	151672364	151672364	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagtaattgcagaagaagaAccccccacggttactgaacc	9	11	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:151672364A>G	uc011eep.1	+	4	3078	c.2838A>G	c.(2836-2838)GAA>GAG	p.E946E	AKAP12_uc003qoe.2_Silent_p.E946E|AKAP12_uc003qof.2_Silent_p.E848E|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.E841E	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	946				E -> G (in Ref. 4; CAH18338).	G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CAGAAGAAGAACCCCCCACGG	0.527													G	151672364	A	G	151672364	2	3	158	1	0	0	0	0	0	0	0	1	448	40	2	3		3	AKAP12	6	151672364	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	5546487	151672364	19442703	1065	84846											
ZBTB2	57621	broad.mit.edu	37	chr6	151687265	151687265	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactgtcacttatcatcccGgcttcaggcacttccatggc	7	15	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:151687265G>A	uc003qoh.2	-	3	1071	c.936C>T	c.(934-936)GCC>GCT	p.A312A		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		TTATCATCCCGGCTTCAGGCA	0.547													A	151687265	G	A	151687265	2	1	158	1	0	0	0	0	0	0	0	1	17525	1103	39	1		1	ZBTB2	6	151687265	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	14901	151687265	19427802	1066	84847											
SYNE1	23345	broad.mit.edu	37	chr6	152697977	152697977	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtctctggaaaatcgaCaaagttcattcagctgagac	9	9	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:152697977C>A	uc010kiw.2	-	57	9682	c.9080G>T	c.(9079-9081)TGT>TTT	p.C3027F	SYNE1_uc003qot.3_Missense_Mutation_p.C3034F|SYNE1_uc003qou.3_Missense_Mutation_p.C3027F|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_Missense_Mutation_p.C105F|SYNE1_uc010kjb.1_Missense_Mutation_p.C3010F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3027	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)		GGAAAATCGACAAAGTTCATT	0.393										HNSCC(10;0.0054)			A	152697977	C	A	152697977	3	1	158	1	0	0	0	0	1	0	0	0	15442	478	17	5	17746	5	SYNE1	6	152697977	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1010712	152697977	18417090	1067	84848											
OPRM1	4988	broad.mit.edu	37	chr6	154360691	154360691	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagtaccatggacagcagCgctgcccccacgaacgccag	11	16	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:154360691C>T	uc003qpr.2	+	1	249	c.12C>T	c.(10-12)AGC>AGT	p.S4S	OPRM1_uc011efb.1_Silent_p.S52S|OPRM1_uc011efc.1_Intron|OPRM1_uc011efd.1_Intron|OPRM1_uc011efe.1_Silent_p.S97S|OPRM1_uc003qpn.2_Silent_p.S4S|OPRM1_uc003qpo.1_Silent_p.S4S|OPRM1_uc011eff.1_Silent_p.S4S|OPRM1_uc011efg.1_Silent_p.S4S|OPRM1_uc011efh.1_Silent_p.S4S|OPRM1_uc003qpq.1_Silent_p.S4S|OPRM1_uc003qpt.1_Silent_p.S4S|OPRM1_uc011efi.1_Silent_p.S4S|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA	NM_000914	NP_000905	P35372	OPRM_HUMAN	opioid receptor, mu 1 isoform MOR-1	4	Extracellular (Potential).				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			ovary(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TGGACAGCAGCGCTGCCCCCA	0.632													T	154360691	C	T	154360691	2	4	158	1	0	0	0	0	0	0	0	1	10887	767	27	1		1	OPRM1	6	154360691	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1662714	154360691	16754376	1068	84849											
SNX9	51429	broad.mit.edu	37	chr6	158342683	158342683	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccagcagttcctaaatttccGagatgagaaggtaggacatt	10	8	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:158342683G>T	uc003qqv.1	+	10	1243	c.1070G>T	c.(1069-1071)CGA>CTA	p.R357L		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	357	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CTAAATTTCCGAGATGAGAAG	0.398													T	158342683	G	T	158342683	3	4	158	1	0	0	0	0	1	0	0	0	14909	1058	37	5	1108	5	SNX9	6	158342683	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3981992	158342683	12772384	1069	84850											
TULP4	56995	broad.mit.edu	37	chr6	158834166	158834166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcggacggaggcatattcGtgtggattcagtacgagggc	16	7	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:158834166G>A	uc003qrf.2	+	2	1679	c.322G>A	c.(322-324)GTG>ATG	p.V108M	TULP4_uc011efo.1_Missense_Mutation_p.V108M|TULP4_uc003qrg.2_Missense_Mutation_p.V108M	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	108	WD 1.				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AGGCATATTCGTGTGGATTCA	0.597													A	158834166	G	A	158834166	3	1	158	1	0	0	0	0	1	0	0	0	16773	1145	40	1	328	1	TULP4	6	158834166	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	491483	158834166	12280901	1070	84851											
TCP1	6950	broad.mit.edu	37	chr6	160208881	160208881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaacttcaggatggttgcaCcatcgttagtaatggttaca	10	7	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:160208881C>T	uc003qsr.2	-	3	408	c.173G>A	c.(172-174)GGT>GAT	p.G58D	TCP1_uc003qss.2_Translation_Start_Site|TCP1_uc010kjz.2_Missense_Mutation_p.G58D|TCP1_uc003qst.2_Translation_Start_Site|SNORA29_uc003qsv.1_5'Flank|MRPL18_uc010kkb.2_5'Flank|MRPL18_uc003qsw.3_5'Flank	NM_030752	NP_110379	P17987	TCPA_HUMAN	T-complex protein 1 isoform a	58					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GATGGTTGCACCATCGTTAGT	0.398													T	160208881	C	T	160208881	3	4	158	1	0	0	0	0	1	0	0	0	15706	507	18	4	1537	4	TCP1	6	160208881	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1374715	160208881	10906186	1071	84852											
IGF2R	3482	broad.mit.edu	37	chr6	160412301	160412301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatattgtccagtgcgggCcatcaagtgctgtttgtatg	13	7	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:160412301C>T	uc003qta.2	+	2	383	c.235C>T	c.(235-237)CCA>TCA	p.P79S		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	79	1.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CCAGTGCGGGCCATCAAGTGC	0.398													T	160412301	C	T	160412301	3	4	158	1	0	0	0	0	1	0	0	0	7576	739	26	2	241	2	IGF2R	6	160412301	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	203420	160412301	10702766	1072	84853											
LPA	4018	broad.mit.edu	37	chr6	160963770	160963770	+	Frame_Shift_Del	DEL	C	C	-													gaatgtgggtgggccacacaCccccctacaatgcttccagg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:160963769_160963769AC>A	uc003qtl.3	-	34	5590	c.5470_5470GT>T	c.(5470-5472)tgtfs	p.C1824fs		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4332	Kringle 16.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.C1824G(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGGCCACACACCCCCCTACA	0.527													-	160963770	C	-	160963770	7	5	158	1	0	1	0	1	0	0	0	0	8903	494	18	0	677	0	LPA	6	160963770	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	551469	160963770	10151297	1073	84854											
MAP3K4	4216	broad.mit.edu	37	chr6	161470941	161470941	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagttaattttaagacTtcacaagctaatggatggtt	8	4	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:161470941T>G	uc003qtn.2	+	3	1779	c.1637T>G	c.(1636-1638)CTT>CGT	p.L546R	MAP3K4_uc010kkc.1_Missense_Mutation_p.L546R|MAP3K4_uc003qto.2_Missense_Mutation_p.L546R|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	546					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ATTTTAAGACTTCACAAGCTA	0.393													G	161470941	T	G	161470941	3	3	158	1	0	0	0	0	1	0	0	0	9252	1609	56	5	1647	5	MAP3K4	6	161470941	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	507171	161470941	9644126	1074	84855											
PACRG	135138	broad.mit.edu	37	chr6	163149367	163149367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgctcccggtgcaccagCctcactctctggtttctgag	10	16	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:163149367C>T	uc003qua.2	+	2	324	c.100C>T	c.(100-102)CCT>TCT	p.P34S	PARK2_uc003qtx.3_5'Flank|PARK2_uc003qty.3_5'Flank|PARK2_uc003qtz.3_5'Flank|PARK2_uc010kke.1_5'Flank|PACRG_uc003qub.2_Missense_Mutation_p.P34S|PACRG_uc003quc.2_Missense_Mutation_p.P34S	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	parkin co-regulated gene protein isoform 1	34											0		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		GGTGCACCAGCCTCACTCTCT	0.502													T	163149367	C	T	163149367	3	4	158	1	0	0	0	0	1	0	0	0	11370	739	26	2	102	2	PACRG	6	163149367	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1678426	163149367	7965700	1075	84856											
PDE10A	10846	broad.mit.edu	37	chr6	165844917	165844917	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaaagactcacctgcaccTgatgtattgctactgaagcc	7	14	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:165844917T>C	uc003qun.2	-	9	948	c.707A>G	c.(706-708)CAG>CGG	p.Q236R	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.Q166R|PDE10A_uc003quo.2_Missense_Mutation_p.Q246R	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	236					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CACCTGCACCTGATGTATTGC	0.403													C	165844917	T	C	165844917	3	2	158	1	0	0	0	0	1	0	0	0	11630	1580	55	3	1692	3	PDE10A	6	165844917	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	2695550	165844917	5270150	1076	84857											
HEATR2	54919	broad.mit.edu	37	chr7	780505	780505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctggctgctgtgtctgcGtgaccgttactccttcttcc	11	14	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:780505G>A	uc010krz.1	+	3	850	c.830G>A	c.(829-831)CGT>CAT	p.R277H	HEATR2_uc003siz.2_Missense_Mutation_p.R145H	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	277	HEAT 3.						protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTGTGTCTGCGTGACCGTTAC	0.652													A	780505	G	A	780505	3	1	158	1	0	0	0	0	1	0	0	0	7028	1145	40	1	840	1	HEATR2	7	780505	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08		780505	158358158	1077	84858											
CYP2W1	54905	broad.mit.edu	37	chr7	1026412	1026412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtgtgcagctatgtggaCgccctgatccagcagggaca	13	13	0	1	rs146145322		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:1026412C>T	uc003sjq.1	+	5	811	c.798C>T	c.(796-798)GAC>GAT	p.D266D	CYP2W1_uc003sjr.1_Silent_p.D266D	NM_017781	NP_060251	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W,	266					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCTATGTGGACGCCCTGATCC	0.682													T	1026412	C	T	1026412	2	4	158	1	0	0	0	0	0	0	0	1	4176	535	19	1		1	CYP2W1	7	1026412	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	245907	1026412	158112251	1078	84859											
INTS1	26173	broad.mit.edu	37	chr7	1518062	1518062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacctcagggtggcgatgaCggcacggacggtggagctga	18	9	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:1518062C>T	uc003skn.2	-	33	4671	c.4570G>A	c.(4570-4572)GTC>ATC	p.V1524I	INTS1_uc003skm.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1524					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GTGGCGATGACGGCACGGACG	0.682													T	1518062	C	T	1518062	3	4	158	1	0	0	0	0	1	0	0	0	7775	536	19	1	2066	1	INTS1	7	1518062	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	491650	1518062	157620601	1079	84860											
INTS1	26173	broad.mit.edu	37	chr7	1519094	1519094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagagctggcgcagcagcGggcaggccaggaagtggcta	19	10	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:1519094G>A	uc003skn.2	-	31	4402	c.4301C>T	c.(4300-4302)CCG>CTG	p.P1434L		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1434					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCGCAGCAGCGGGCAGGCCAG	0.701													A	1519094	G	A	1519094	3	1	158	1	0	0	0	0	1	0	0	0	7775	1116	39	1	2343	1	INTS1	7	1519094	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1032	1519094	157619569	1080	84861											
MAD1L1	8379	broad.mit.edu	37	chr7	1997278	1997278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcacctgcagagctcgccGctccagctgtgcctccagca	9	19	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:1997278G>A	uc003slh.1	-	16	1848	c.1582C>T	c.(1582-1584)CGG>TGG	p.R528W	MAD1L1_uc003sle.1_Missense_Mutation_p.R257W|MAD1L1_uc003slf.1_Missense_Mutation_p.R528W|MAD1L1_uc003slg.1_Missense_Mutation_p.R528W|MAD1L1_uc010ksh.1_Missense_Mutation_p.R528W|MAD1L1_uc003sli.1_Missense_Mutation_p.R436W|MAD1L1_uc010ksi.1_Missense_Mutation_p.R481W|MAD1L1_uc010ksj.2_Missense_Mutation_p.R528W	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	528	Necessary for interaction with NEK2.|Potential.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		AGAGCTCGCCGCTCCAGCTGT	0.637													A	1997278	G	A	1997278	3	1	158	1	0	0	0	0	1	0	0	0	9147	1086	38	1	590	1	MAD1L1	7	1997278	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	478184	1997278	157141385	1081	84862											
NUDT1	4521	broad.mit.edu	37	chr7	2290474	2290474	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attggtacagaaatgcgcccAtgctggttccagctggatca	11	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:2290474A>G	uc003slp.1	+	5	480	c.378A>G	c.(376-378)CCA>CCG	p.P126P	NUDT1_uc003slq.1_Silent_p.P103P|NUDT1_uc003slr.1_Silent_p.P103P|NUDT1_uc003sls.1_Silent_p.P126P|NUDT1_uc003slt.1_Silent_p.P103P|NUDT1_uc003slu.1_Silent_p.P126P|NUDT1_uc003slv.1_Silent_p.P103P	NM_198949	NP_945187	P36639	8ODP_HUMAN	nudix-type motif 1 isoform p22	144	Nudix hydrolase.				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding				0		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		AAATGCGCCCATGCTGGTTCC	0.443								Direct_reversal_of_damage|Modulation_of_nucleotide_pools					G	2290474	A	G	2290474	2	3	158	1	0	0	0	0	0	0	0	1	10725	204	8	3		3	NUDT1	7	2290474	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	293196	2290474	156848189	1082	84863											
NUDT1	4521	broad.mit.edu	37	chr7	2290630	2290630	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactccgcgaggtggacacGgtctagcgggagcccagggc	16	13	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:2290630G>A	uc003slp.1	+	5	636	c.534G>A	c.(532-534)ACG>ACA	p.T178T	NUDT1_uc003slq.1_Silent_p.T155T|NUDT1_uc003slr.1_Silent_p.T155T|NUDT1_uc003sls.1_Silent_p.T178T|NUDT1_uc003slt.1_Silent_p.T155T|NUDT1_uc003slu.1_Silent_p.T178T|NUDT1_uc003slv.1_Silent_p.T155T	NM_198949	NP_945187	P36639	8ODP_HUMAN	nudix-type motif 1 isoform p22	196					DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding				0		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		AGGTGGACACGGTCTAGCGGG	0.602								Direct_reversal_of_damage|Modulation_of_nucleotide_pools					A	2290630	G	A	2290630	2	1	158	1	0	0	0	0	0	0	0	1	10725	1103	39	1		1	NUDT1	7	2290630	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	156	2290630	156848033	1083	84864											
C7orf27	221927	broad.mit.edu	37	chr7	2581015	2581015	+	Frame_Shift_Del	DEL	C	C	-													ccagggtcccacagaggtggCcccccacactggaggcaggg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:2581015delC	uc003smi.2	-	9	1280	c.1238delG	c.(1237-1239)GGCfs	p.G413fs	C7orf27_uc003smh.3_5'UTR	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	413					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		ACAGAGGTGGCCCCCCACACT	0.687													-	2581015	C	-	2581015	7	5	158	1	0	1	0	1	0	0	0	0	2382	739	26	0	1251	0	C7orf27	7	2581015	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	290385	2581015	156557648	1084	84865											
TTYH3	80727	broad.mit.edu	37	chr7	2701302	2701302	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccccttgtctccctccagTacacctccagcatgagagcc	6	19	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:2701302T>C	uc003smp.2	+	14	1688	c.1501T>C	c.(1501-1503)TAC>CAC	p.Y501H	TTYH3_uc010ksn.2_Missense_Mutation_p.Y221H|TTYH3_uc003smq.2_Missense_Mutation_p.Y330H	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	tweety 3	501	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CTCCCTCCAGTACACCTCCAG	0.687													C	2701302	T	C	2701302	3	2	158	1	0	0	0	0	1	0	0	0	16738	1652	57	3	1555	3	TTYH3	7	2701302	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	120287	2701302	156437361	1085	84866											
CARD11	84433	broad.mit.edu	37	chr7	2968323	2968324	+	Frame_Shift_Ins	INS	-	-	G													atgatgctgctgcggctccgINSggggggctgcttcagacaca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:2968322_2968323C>CG	uc003smv.3	-	12	1997_1998	c.1663_1664G>CG	c.(1663-1665)cggfs	p.R555fs		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	555					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.R548L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTGCGGCTCCGGGGGGGCTGC	0.589			Mis		DLBCL								G	2968324	-	G	2968323	7	5	158	1	0	1	1	0	0	0	0	0	2645	1115	39	0	1853	0	CARD11	7	2968323	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	267021	2968323	156170340	1086	84867											
SDK1	221935	broad.mit.edu	37	chr7	4002413	4002413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgcgtccagaggactcCggaatcttccagtgcttcgc	11	13	1	1	rs141891693	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:4002413C>T	uc003smx.2	+	9	1498	c.1359C>T	c.(1357-1359)TCC>TCT	p.S453S		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	453	Ig-like C2-type 4.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGAGGACTCCGGAATCTTCC	0.577													T	4002413	C	T	4002413	2	4	158	1	0	0	0	0	0	0	0	1	13968	639	23	1		1	SDK1	7	4002413	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1034090	4002413	155136250	1087	84868											
SDK1	221935	broad.mit.edu	37	chr7	4185463	4185463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgacctggccccggagtcCgcatacatcttcaggctgtc	10	16	2	0	rs139222484	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:4185463C>T	uc003smx.2	+	29	4477	c.4338C>T	c.(4336-4338)TCC>TCT	p.S1446S	SDK1_uc010kso.2_Silent_p.S722S|SDK1_uc003smy.2_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1446	Fibronectin type-III 8.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCCGGAGTCCGCATACATCT	0.662													T	4185463	C	T	4185463	2	4	158	1	0	0	0	0	0	0	0	1	13968	639	23	1		1	SDK1	7	4185463	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	183050	4185463	154953200	1088	84869											
MMD2	221938	broad.mit.edu	37	chr7	4955655	4955655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagggtgcgtaggaagccgCtatgaagaaatagatgacca	13	8	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:4955655C>T	uc003sno.3	-	4	542	c.346G>A	c.(346-348)GCG>ACG	p.A116T	MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.A116T|MMD2_uc010ksq.2_Missense_Mutation_p.A116T	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	monocyte to macrophage	116	Helical; (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		TAGGAAGCCGCTATGAAGAAA	0.537													T	4955655	C	T	4955655	3	4	158	1	0	0	0	0	1	0	0	0	9644	797	28	2	482	2	MMD2	7	4955655	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	770192	4955655	154183008	1089	84870											
FBXL18	80028	broad.mit.edu	37	chr7	5540534	5540534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctgggacaggactgcaCgcccacacgcactttcttgc	13	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:5540534C>T	uc003soo.2	-	3	1460	c.1366G>A	c.(1366-1368)GTG>ATG	p.V456M	FBXL18_uc003son.3_Missense_Mutation_p.V456M	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	456										central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CAGGACTGCACGCCCACACGC	0.522													T	5540534	C	T	5540534	3	4	158	1	0	0	0	0	1	0	0	0	5714	536	19	1	802	1	FBXL18	7	5540534	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	584879	5540534	153598129	1090	84871											
FBXL18	80028	broad.mit.edu	37	chr7	5540845	5540845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacaggcagtggacgcagCcgctgaggttcaagctggcc	17	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:5540845C>T	uc003soo.2	-	3	1149	c.1055G>A	c.(1054-1056)GGC>GAC	p.G352D	FBXL18_uc003son.3_Missense_Mutation_p.G352D	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	352	LRR 5.									central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GTGGACGCAGCCGCTGAGGTT	0.637													T	5540845	C	T	5540845	3	4	158	1	0	0	0	0	1	0	0	0	5714	739	26	2	1113	2	FBXL18	7	5540845	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	311	5540845	153597818	1091	84872											
AIMP2	7965	broad.mit.edu	37	chr7	6057622	6057622	+	Frame_Shift_Del	DEL	A	A	-													agtgctttggagaacagaatAaaaaacagccccgccaagac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:6057621_6057621TA>T	uc003spo.3	+	2	632	c.519_519TA>T	c.(517-519)aatfs	p.N173fs		NM_006303	NP_006294	Q13155	AIMP2_HUMAN	Homo sapiens aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 (AIMP2), mRNA.	173	Interaction with TP53.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GAGAACAGAATAAAAAACAGC	0.507													-	6057622	A	-	6057622	7	5	158	1	0	1	0	1	0	0	0	0	434	363	13	0	530	0	AIMP2	7	6057622	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	516777	6057622	153081041	1092	84873											
AIMP2	7965	broad.mit.edu	37	chr7	6063150	6063150	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccatgaactctgctcttgGgaagagcccttggctcgctg	11	13	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:6063150G>T	uc003spo.2	+	4	904	c.791G>T	c.(790-792)GGG>GTG	p.G264V	EIF2AK1_uc003spp.2_3'UTR|EIF2AK1_uc003spq.2_3'UTR	NM_006303	NP_006294	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting	264	GST C-terminal.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			ovary(1)	1						TCTGCTCTTGGGAAGAGCCCT	0.512													T	6063150	G	T	6063150	3	4	158	1	0	0	0	0	1	0	0	0	434	1232	43	5	805	5	AIMP2	7	6063150	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	5528	6063150	153075513	1093	84874											
USP42	84132	broad.mit.edu	37	chr7	6193713	6193713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggatgatcgcggagggccCgcgggactcggcgttggcgg	22	10	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:6193713C>T	uc011jwo.1	+	15	2651	c.2528C>T	c.(2527-2529)CCG>CTG	p.P843L	USP42_uc011jwp.1_Missense_Mutation_p.P843L|USP42_uc011jwq.1_Missense_Mutation_p.P650L|USP42_uc011jwr.1_Missense_Mutation_p.P688L	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	843	Pro-rich.				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GCGGAGGGCCCGCGGGACTCG	0.692													T	6193713	C	T	6193713	3	4	158	1	0	0	0	0	1	0	0	0	17070	652	23	1		1	USP42	7	6193713	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	130563	6193713	152944950	1094	84875											
DAGLB	221955	broad.mit.edu	37	chr7	6449537	6449537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgctctgtcggagaccacGctgtccaaggcccgcatcag	12	16	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:6449537G>A	uc003sqa.2	-	15	2120	c.1950C>T	c.(1948-1950)AGC>AGT	p.S650S	DAGLB_uc003spy.2_Silent_p.S196S|DAGLB_uc003spz.2_Silent_p.S347S|DAGLB_uc011jwt.1_Silent_p.S464S|DAGLB_uc011jwu.1_Silent_p.S521S|DAGLB_uc003sqb.2_Silent_p.S369S|DAGLB_uc003sqc.2_Silent_p.S369S|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Silent_p.S609S	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	650	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CGGAGACCACGCTGTCCAAGG	0.597													A	6449537	G	A	6449537	2	1	158	1	0	0	0	0	0	0	0	1	4227	1078	38	1		1	DAGLB	7	6449537	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	255824	6449537	152689126	1095	84876											
ZNF12	7559	broad.mit.edu	37	chr7	6730792	6730792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtgtgtgttctctgatgtCgattaagggctgaattctgg	13	6	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:6730792C>T	uc003sqt.1	-	5	2335	c.1781G>A	c.(1780-1782)CGA>CAA	p.R594Q	ZNF12_uc011jxa.1_Missense_Mutation_p.R432Q|ZNF12_uc003sqs.1_Missense_Mutation_p.R556Q	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	594	C2H2-type 12.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TCTCTGATGTCGATTAAGGGC	0.408													T	6730792	C	T	6730792	3	4	158	1	0	0	0	0	1	0	0	0	17715	884	31	1	316	1	ZNF12	7	6730792	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	281255	6730792	152407871	1096	84877											
THSD7A	221981	broad.mit.edu	37	chr7	11415500	11415500	+	Frame_Shift_Del	DEL	T	T	-													ttctttggggtttctttggcTttttgctgtaaaaaaattcg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:11415499_11415499CT>C	uc021zzo.1	-	27	5148	c.4896_4896AG>G	c.(4894-4896)aagfs	p.K1632fs	THSD7A_uc021zzn.1_Frame_Shift_Del_p.K1630fs|BC040327_uc003ssb.3_Intron|THSD7A_uc003ssd.4_Frame_Shift_Del_p.K136fs	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1632						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTTTCTTTGGCTTTTTGCTGT	0.333										HNSCC(18;0.044)			-	11415500	T	-	11415500	7	5	158	1	0	1	0	1	0	0	0	0	15876	1609	56	0	82	0	THSD7A	7	11415500	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	4684708	11415500	147723163	1097	84878											
SCIN	85477	broad.mit.edu	37	chr7	12675760	12675760	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttggaggacaggctgtgcaGgttgggatatttttaccccc	13	9	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:12675760G>T	uc003ssn.3	+	10	1620	c.1410G>T	c.(1408-1410)CAG>CAT	p.Q470H	SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Missense_Mutation_p.Q223H	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN	scinderin isoform 1	470	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		AGGCTGTGCAGGTTGGGATAT	0.468													T	12675760	G	T	12675760	3	4	158	1	0	0	0	0	1	0	0	0	13905	1014	35	5	1448	5	SCIN	7	12675760	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1260260	12675760	146462903	1098	84879											
DGKB	1607	broad.mit.edu	37	chr7	14647098	14647098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaagactgtaaacctgaCgaggatttaatagatactgg	10	6	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:14647098C>T	uc003ssz.2	-	16	1584	c.1397G>A	c.(1396-1398)CGT>CAT	p.R466H	DGKB_uc011jxt.1_Missense_Mutation_p.R447H|DGKB_uc003sta.2_Missense_Mutation_p.R466H|DGKB_uc011jxu.1_Missense_Mutation_p.R465H	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	466	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	p.R466G(1)		lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)	GTAAACCTGACGAGGATTTAA	0.269													T	14647098	C	T	14647098	3	4	158	1	0	0	0	0	1	0	0	0	4466	536	19	1	1072	1	DGKB	7	14647098	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1971338	14647098	144491565	1099	84880											
AGR3	155465	broad.mit.edu	37	chr7	16913426	16913426	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttgagcataaaagagacCttcttcataagtttgtaccc	6	8	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:16913426C>A	uc003sts.2	-	3	224	c.151G>T	c.(151-153)GGT>TGT	p.G51C		NM_176813	NP_789783	Q8TD06	AGR3_HUMAN	breast cancer membrane protein 11 precursor	51						extracellular region					0	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TAAAAGAGACCTTCTTCATAA	0.299													A	16913426	C	A	16913426	3	1	158	1	0	0	0	0	1	0	0	0	396	681	24	5	373	5	AGR3	7	16913426	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2266328	16913426	142225237	1100	84881											
SNX13	23161	broad.mit.edu	37	chr7	17861275	17861275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatcattacaaacgcctgCcacagcatatgggtcatagt	8	10	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:17861275C>T	uc003stw.1	-	18	1948	c.1735G>A	c.(1735-1737)GCA>ACA	p.A579T	SNX13_uc003stv.2_Intron|SNX13_uc010kuc.2_Intron|SNX13_uc010kub.2_5'UTR			Q9Y5W8	SNX13_HUMAN	SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;	579	PX.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			central_nervous_system(2)|kidney(1)	3	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CAAACGCCTGCCACAGCATAT	0.398													T	17861275	C	T	17861275	3	4	158	1	0	0	0	0	1	0	0	0	14884	754	26	2		2	SNX13	7	17861275	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	947849	17861275	141277388	1101	84882											
ITGB8	3696	broad.mit.edu	37	chr7	20406735	20406735	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatagaatacccatctgtgcAtgttataatacccactgaaa	5	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:20406735A>G	uc003suu.2	+	3	1019	c.314A>G	c.(313-315)CAT>CGT	p.H105R	ITGB8_uc011jyh.1_5'UTR|ITGB8_uc003sut.2_Missense_Mutation_p.H105R	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	105	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						CCATCTGTGCATGTTATAATA	0.373													G	20406735	A	G	20406735	3	3	158	1	0	0	0	0	1	0	0	0	7901	217	8	3	324	3	ITGB8	7	20406735	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	2545460	20406735	138731928	1102	84883											
ITGB8	3696	broad.mit.edu	37	chr7	20441713	20441713	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatactgtgaaaaggatgacTtttcttgtccatatcaccat	6	8	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:20441713T>C	uc003suu.2	+	10	2356	c.1651T>C	c.(1651-1653)TTT>CTT	p.F551L	ITGB8_uc011jyh.1_Missense_Mutation_p.F416L	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	551	Cysteine-rich tandem repeats.|II.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						AAAGGATGACTTTTCTTGTCC	0.378													C	20441713	T	C	20441713	3	2	158	1	0	0	0	0	1	0	0	0	7901	1609	56	3	1689	3	ITGB8	7	20441713	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	34978	20441713	138696950	1103	84884											
ABCB5	340273	broad.mit.edu	37	chr7	20778638	20778638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgcatatggagctatggCcatcggagaaacgctcgttt	11	8	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:20778638C>T	uc003suw.3	+	15	2111	c.1565C>T	c.(1564-1566)GCC>GTC	p.A522V	ABCB5_uc010kuh.2_Missense_Mutation_p.A967V	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	522	Helical; (Potential).|ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						GGAGCTATGGCCATCGGAGAA	0.408													T	20778638	C	T	20778638	3	4	158	1	0	0	0	0	1	0	0	0	44	739	26	2	3031	2	ABCB5	7	20778638	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	336925	20778638	138360025	1104	84885											
DNAH11	8701	broad.mit.edu	37	chr7	21639578	21639578	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgttttttcaagcacaAatgatcttgttgcctcctga	7	11	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:21639578A>G	uc003svc.2	+	15	2872	c.2841A>G	c.(2839-2841)CAA>CAG	p.Q947Q		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	947	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TTCAAGCACAAATGATCTTGT	0.403									Kartagener_syndrome				G	21639578	A	G	21639578	2	3	158	1	0	0	0	0	0	0	0	1	4599	11	1	3		3	DNAH11	7	21639578	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	860940	21639578	137499085	1105	84886											
DNAH11	8701	broad.mit.edu	37	chr7	21778372	21778372	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcataactatggtcctggaGgaaataaaaaattgatttat	8	4	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:21778372G>T	uc003svc.2	+	48	7751	c.7720G>T	c.(7720-7722)GGA>TGA	p.G2574*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2574	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TGGTCCTGGAGGAAATAAAAA	0.388									Kartagener_syndrome				T	21778372	G	T	21778372	4	4	158	1	0	0	0	0	0	1	0	0	4599	1001	35	5	7907	5	DNAH11	7	21778372	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	138794	21778372	137360291	1106	84887											
DNAH11	8701	broad.mit.edu	37	chr7	21784143	21784143	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatctgcccgtgtttatggaGacaaactgatagacaaaaaa	8	7	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:21784143G>T	uc003svc.2	+	51	8294	c.8263G>T	c.(8263-8265)GAC>TAC	p.D2755Y		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2755					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TGTTTATGGAGACAAACTGAT	0.368									Kartagener_syndrome				T	21784143	G	T	21784143	3	4	158	1	0	0	0	0	1	0	0	0	4599	942	33	5	8462	5	DNAH11	7	21784143	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	5771	21784143	137354520	1107	84888											
RAPGEF5	9771	broad.mit.edu	37	chr7	22162082	22162082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcctgctggctgtcaatgAcatacaggtgattaacatag	11	8	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:22162082A>G	uc003svg.2	-	26	2448	c.2135T>C	c.(2134-2136)GTC>GCC	p.V712A		NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	562	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			ovary(1)	1						GCTGTCAATGACATACAGGTG	0.502													G	22162082	A	G	22162082	3	3	158	1	0	0	0	0	1	0	0	0	13047	275	10	3	61	3	RAPGEF5	7	22162082	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	377939	22162082	136976581	1108	84889											
RAPGEF5	9771	broad.mit.edu	37	chr7	22176551	22176551	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttggctcaactacttacTgttaaactttcaagttcaga	5	10	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:22176551T>G	uc003svg.2	-	22	2182	c.1869A>C	c.(1867-1869)ACA>ACC	p.T623T	RAPGEF5_uc011jyl.1_Silent_p.T304T	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	473	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			ovary(1)	1						AACTACTTACTGTTAAACTTT	0.343													G	22176551	T	G	22176551	2	3	158	1	0	0	0	0	0	0	0	1	13047	1594	55	5		5	RAPGEF5	7	22176551	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	14469	22176551	136962112	1109	84890											
NUPL2	11097	broad.mit.edu	37	chr7	23224773	23224773	+	Frame_Shift_Del	DEL	G	G	-													tttctccaaatccacaccatGggggggcagcagagatcaag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:23224772_23224772TG>T	uc003svu.3	+	1	464	c.205_205TG>T	c.(205-207)tggfs	p.W69fs	NUPL2_uc003svv.3_Non-coding_Transcript|NUPL2_uc011jyw.2_Non-coding_Transcript	NM_007342	NP_031368	O15504	NUPL2_HUMAN	Homo sapiens nucleoporin like 2 (NUPL2), mRNA.	69					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCACACCATGGGGGGGCAG	0.408													-	23224773	G	-	23224773	7	5	158	1	0	1	0	1	0	0	0	0	10775	1357	47	0	212	0	NUPL2	7	23224773	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	1048222	23224773	135913890	1110	84891											
GPNMB	10457	broad.mit.edu	37	chr7	23296675	23296675	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaatttcatctacgtcttcCacacacttggttggctttta	7	10	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:23296675C>A	uc003swc.2	+	4	693	c.532C>A	c.(532-534)CAC>AAC	p.H178N	GPNMB_uc003swa.2_Missense_Mutation_p.H178N|GPNMB_uc003swb.2_Missense_Mutation_p.H178N|GPNMB_uc011jyy.1_Intron|GPNMB_uc011jyz.1_Missense_Mutation_p.H79N	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	178	Extracellular (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)			CTACGTCTTCCACACACTTGG	0.418													A	23296675	C	A	23296675	3	1	158	1	0	0	0	0	1	0	0	0	6620	594	21	5	546	5	GPNMB	7	23296675	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	71902	23296675	135841988	1111	84892											
GPNMB	10457	broad.mit.edu	37	chr7	23300169	23300169	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctccccattatgtttgatgtCctgattcatgatcctagcca	6	12	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:23300169C>G	uc003swc.2	+	6	956	c.795C>G	c.(793-795)GTC>GTG	p.V265V	GPNMB_uc003swb.2_Silent_p.V265V|GPNMB_uc011jyy.1_Silent_p.V207V|GPNMB_uc011jyz.1_Silent_p.V166V	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	265	PKD.|Extracellular (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)			TGTTTGATGTCCTGATTCATG	0.408													G	23300169	C	G	23300169	2	3	158	1	0	0	0	0	0	0	0	1	6620	842	30	5		5	GPNMB	7	23300169	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	3494	23300169	135838494	1112	84893											
HNRNPA2B1	3181	broad.mit.edu	37	chr7	26236958	26236958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgctacagcacgttttgGctcaactactctcccatcaa	5	14	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:26236958G>A	uc003sxr.3	-	4	493	c.277C>T	c.(277-279)CCA>TCA	p.P93S	HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.P81S	NM_031243	NP_112533	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	93	RRM 1.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GCACGTTTTGGCTCAACTACT	0.418			T	ETV1	prostate								A	26236958	G	A	26236958	3	1	158	1	0	0	0	0	1	0	0	0	7259	1203	42	2	816	2	HNRNPA2B1	7	26236958	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2936789	26236958	132901705	1113	84894											
HOXA1	3198	broad.mit.edu	37	chr7	27134370	27134370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtagtgaagttggtgcGcaccgcgttgggttgaccca	15	9	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:27134370G>A	uc003sye.2	-	2	791	c.697C>T	c.(697-699)CGC>TGC	p.R233C	HOXA1_uc003syd.2_3'UTR|uc003syg.2_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	homeobox A1 isoform a	233	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3						AAGTTGGTGCGCACCGCGTTG	0.537													A	27134370	G	A	27134370	3	1	158	1	0	0	0	0	1	0	0	0	7288	1087	38	1	314	1	HOXA1	7	27134370	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	897412	27134370	132004293	1114	84895											
HOXA4	3201	broad.mit.edu	37	chr7	27168942	27168942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggtgggccggcagaggCcgaggccgaattggaggatc	18	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:27168942C>T	uc003sym.3	-	2	912	c.865G>A	c.(865-867)GCC>ACC	p.A289T	HOXA3_uc003syk.2_5'Flank	NM_002141	NP_002132	Q00056	HXA4_HUMAN	homeobox A4	289						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						CCGGCAGAGGCCGAGGCCGAA	0.388													T	27168942	C	T	27168942	3	4	158	1	0	0	0	0	1	0	0	0	7294	739	26	2	101	2	HOXA4	7	27168942	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	34572	27168942	131969721	1115	84896											
CREB5	9586	broad.mit.edu	37	chr7	28848848	28848848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccaacccagacaatacaGccaccccagcccacaggggg	9	18	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:28848848G>A	uc003szq.2	+	9	1461	c.1071G>A	c.(1069-1071)CAG>CAA	p.Q357Q	CREB5_uc003szo.2_Silent_p.Q324Q|CREB5_uc003szr.2_Silent_p.Q350Q|CREB5_uc003szs.2_Silent_p.Q218Q	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	357					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						AGACAATACAGCCACCCCAGC	0.622													A	28848848	G	A	28848848	2	1	158	1	0	0	0	0	0	0	0	1	3860	962	34	2		2	CREB5	7	28848848	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1679906	28848848	130289815	1116	84897											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31126567	31126568	+	Frame_Shift_Del	DEL	TG	TG	-													gttctcccagggaccccaacTgtgtgtgtgacagtgtgggc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:31126566_31126567CTG>C	uc003tca.2	+	10	1122_1123	c.833_834CTG>C	c.(832-834)actfs	p.T278fs	ADCYAP1R1_uc003tcg.3_Frame_Shift_Del_p.T278fs|ADCYAP1R1_uc003tce.2_Frame_Shift_Del_p.T278fs|ADCYAP1R1_uc003tcb.2_Frame_Shift_Del_p.T257fs|ADCYAP1R1_uc003tcc.2_Frame_Shift_Del_p.T278fs|ADCYAP1R1_uc003tcf.1_5'UTR	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	278					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GGGACCCCAACTGTGTGTGTGA	0.52													-	31126568	TG	-	31126567	7	5	158	1	0	1	0	1	0	0	0	0	303	1567	55	0	872	0	ADCYAP1R1	7	31126567	Frame_Shift_Del	DEL	TG	TCGA-CD-A4MG-01A-11D-A25D-08	2277719	31126567	128012096	1117	84898											
AVL9	23080	broad.mit.edu	37	chr7	32598822	32598822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatatttgaaacctccatctCgcccatctccagattcttca	3	14	4	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:32598822C>T	uc003tcv.1	+	10	1107	c.961C>T	c.(961-963)CGC>TGC	p.R321C	AVL9_uc011kai.1_Missense_Mutation_p.R321C|AVL9_uc010kwj.1_Missense_Mutation_p.R162C	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	321						integral to membrane					0						ACCTCCATCTCGCCCATCTCC	0.473													T	32598822	C	T	32598822	3	4	158	1	0	0	0	0	1	0	0	0	1228	884	31	1	999	1	AVL9	7	32598822	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1472255	32598822	126539841	1118	84899											
KBTBD2	25948	broad.mit.edu	37	chr7	32909150	32909150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgctgccgcagagaccacCggtcaagttccaggtcatat	10	12	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:32909150C>T	uc003tdb.2	-	4	2338	c.1679G>A	c.(1678-1680)CGG>CAG	p.R560Q	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	560	Kelch 5.										0			GBM - Glioblastoma multiforme(11;0.0499)			CAGAGACCACCGGTCAAGTTC	0.468													T	32909150	C	T	32909150	3	4	158	1	0	0	0	0	1	0	0	0	7993	652	23	1	196	1	KBTBD2	7	32909150	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	310328	32909150	126229513	1119	84900											
NPSR1	387129	broad.mit.edu	37	chr7	34724198	34724198	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactctgtgggtcctctttgTttttaccattgttggaaact	8	8	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:34724198T>C	uc003teg.1	+	2	310	c.182T>C	c.(181-183)GTT>GCT	p.V61A	AAA1_uc010kwo.1_Intron|AAA1_uc010kwp.1_Intron|AAA1_uc003tdz.2_Intron|AAA1_uc010kwq.1_Intron|AAA1_uc003teb.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.V61A|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.V61A|NPSR1_uc003tei.1_Missense_Mutation_p.V61A|NPSR1_uc010kww.1_Missense_Mutation_p.V61A|NPSR1_uc011kar.1_Missense_Mutation_p.V61A	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	61	Helical; Name=1; (Potential).					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)	GTCCTCTTTGTTTTTACCATT	0.418													C	34724198	T	C	34724198	3	2	158	1	0	0	0	0	1	0	0	0	10600	1725	60	3	188	3	NPSR1	7	34724198	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1815048	34724198	124414465	1120	84901											
ANLN	54443	broad.mit.edu	37	chr7	36438710	36438710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatcttgtacaaaaccatcGccatcaaaaaaacgctgttc	4	11	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:36438710G>A	uc003tff.2	+	3	399	c.195G>A	c.(193-195)TCG>TCA	p.S65S	ANLN_uc011kaz.1_Intron|ANLN_uc003tfg.2_Silent_p.S65S|ANLN_uc010kxe.2_Silent_p.S65S	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	65	Nuclear localization.|Interaction with CD2AP.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3						CAAAACCATCGCCATCAAAAA	0.333													A	36438710	G	A	36438710	2	1	158	1	0	0	0	0	0	0	0	1	694	1074	38	1		1	ANLN	7	36438710	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1714512	36438710	122699953	1121	84902											
ELMO1	9844	broad.mit.edu	37	chr7	36910080	36910080	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgatatctgccaccggcActgcaattcataaaagaaaa	6	10	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:36910080A>C	uc003tfk.1	-	20	2130	c.1823T>G	c.(1822-1824)CTG>CGG	p.L608R	ELMO1_uc003tfi.1_Missense_Mutation_p.L128R|ELMO1_uc003tfj.1_Missense_Mutation_p.L128R|ELMO1_uc011kbb.1_RNA|ELMO1_uc011kbc.1_Missense_Mutation_p.L512R|ELMO1_uc010kxg.1_Missense_Mutation_p.L608R	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	608	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						TGCCACCGGCACTGCAATTCA	0.418													C	36910080	A	C	36910080	3	2	158	1	0	0	0	0	1	0	0	0	5065	173	6	5	372	5	ELMO1	7	36910080	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	471370	36910080	122228583	1122	84903											
AMPH	273	broad.mit.edu	37	chr7	38502674	38502674	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggtgaaggctcctcaggCggtgatggtgtctttgcaat	16	7	2	2	rs148695925		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:38502674C>T	uc003tgu.2	-	10	858	c.789G>A	c.(787-789)CCG>CCA	p.P263P	AMPH_uc003tgv.2_Silent_p.P263P|AMPH_uc003tgt.2_Silent_p.P16P	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	263					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						GCTCCTCAGGCGGTGATGGTG	0.567													T	38502674	C	T	38502674	2	4	158	1	0	0	0	0	0	0	0	1	588	755	27	1		1	AMPH	7	38502674	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1592594	38502674	120635989	1123	84904											
POU6F2	11281	broad.mit.edu	37	chr7	39125534	39125534	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaatgcggagttgagaggTgaggacaaggctgctacttc	15	6	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:39125534T>C	uc003thb.1	+	2	135	c.93T>C	c.(91-93)GGT>GGC	p.G31G	POU6F2_uc010kxo.2_Silent_p.G23G	NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	31					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						AGTTGAGAGGTGAGGACAAGG	0.532													C	39125534	T	C	39125534	2	2	158	1	0	0	0	0	0	0	0	1	12285	1683	59	3		3	POU6F2	7	39125534	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	622860	39125534	120013129	1124	84905											
CDK13	8621	broad.mit.edu	37	chr7	40132784	40132784	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggaaaatggatcgggacaTgaagcgtcattacaactcag	12	7	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:40132784T>C	uc003thh.3	+	13	3918	c.3636T>C	c.(3634-3636)CAT>CAC	p.H1212H	CDK13_uc003thi.3_Silent_p.H1152H|CDK13_uc003thj.2_Silent_p.H263H|CDK13_uc003thk.2_Silent_p.H145H	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1212					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						GATCGGGACATGAAGCGTCAT	0.473													C	40132784	T	C	40132784	2	2	158	1	0	0	0	0	0	0	0	1	3129	1461	51	3		3	CDK13	7	40132784	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1007250	40132784	119005879	1125	84906											
C7orf11	136647	broad.mit.edu	37	chr7	40172675	40172675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttaacaaaagtatcttcCttttttgcctgtgaatgttt	6	6	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:40172675C>T	uc003thl.3	-	2	615	c.523G>A	c.(523-525)GGA>AGA	p.G175R	C7orf10_uc003thm.1_5'Flank|C7orf10_uc003thn.1_5'Flank|C7orf10_uc003tho.1_5'Flank	NM_138701	NP_619646	Q8TAP9	TTDN1_HUMAN	chromosome 7 open reading frame 11	175					cell division|mitosis	microtubule organizing center|nucleus				breast(1)	1						AAGTATCTTCCTTTTTTGCCT	0.373								Direct_reversal_of_damage|Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents					T	40172675	C	T	40172675	3	4	158	1	0	0	0	0	1	0	0	0	2377	690	24	4	20	4	C7orf11	7	40172675	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	39891	40172675	118965988	1126	84907											
GLI3	2737	broad.mit.edu	37	chr7	42005218	42005218	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcggttttgctgccctcGgggcagggctgctcgagggc	18	11	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:42005218G>A	uc011kbh.1	-	15	3544	c.3453C>T	c.(3451-3453)CCC>CCT	p.P1151P	GLI3_uc011kbg.1_Silent_p.P1092P	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1151					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						TGCTGCCCTCGGGGCAGGGCT	0.677									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42005218	G	A	42005218	2	1	158	1	0	0	0	0	0	0	0	1	6439	1103	39	1		1	GLI3	7	42005218	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1832543	42005218	117133445	1127	84908											
HECW1	23072	broad.mit.edu	37	chr7	43351403	43351403	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaggcctggccgccatggcGtctccttctagaaactccca	9	15	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:43351403G>A	uc003tid.1	+	4	674	c.69G>A	c.(67-69)GCG>GCA	p.A23A	HECW1_uc011kbi.1_Silent_p.A23A|HECW1_uc003tie.1_Silent_p.A55A	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	23					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						CCGCCATGGCGTCTCCTTCTA	0.607													A	43351403	G	A	43351403	2	1	158	1	0	0	0	0	0	0	0	1	7042	1132	40	1		1	HECW1	7	43351403	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1346185	43351403	115787260	1128	84909											
URGCP	55665	broad.mit.edu	37	chr7	43916374	43916374	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaattcaaatatggcttcActgtaggccaagctcactgc	7	11	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:43916374A>G	uc003tiw.2	-	6	2745	c.2688T>C	c.(2686-2688)AGT>AGC	p.S896S	URGCP_uc003tiu.2_Silent_p.S853S|URGCP_uc003tiv.2_Silent_p.S821S|URGCP_uc003tix.2_Silent_p.S887S|URGCP_uc003tiy.2_Silent_p.S853S|URGCP_uc003tiz.2_Silent_p.S853S|URGCP_uc011kbj.1_Silent_p.S853S	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	896					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						ATATGGCTTCACTGTAGGCCA	0.542													G	43916374	A	G	43916374	2	3	158	1	0	0	0	0	0	0	0	1	17023	156	6	3		3	URGCP	7	43916374	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	564971	43916374	115222289	1129	84910											
AEBP1	165	broad.mit.edu	37	chr7	44147101	44147101	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtggaggcacgggagcAccagcctggtgagtggccgt	17	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:44147101A>G	uc003tkb.2	+	3	964	c.659A>G	c.(658-660)CAC>CGC	p.H220R		NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	220	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GCACGGGAGCACCAGCCTGGT	0.647													G	44147101	A	G	44147101	3	3	158	1	0	0	0	0	1	0	0	0	349	159	6	3	669	3	AEBP1	7	44147101	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	230727	44147101	114991562	1130	84911											
NUDCD3	23386	broad.mit.edu	37	chr7	44467252	44467252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaccaggtgtagttctctCggacagcaccattgtaactg	11	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:44467252C>T	uc003tkz.2	-	3	746	c.560G>A	c.(559-561)CGA>CAA	p.R187Q	NUDCD3_uc010kye.2_RNA	NM_015332	NP_056147	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	187	CS.										0						GTAGTTCTCTCGGACAGCACC	0.517													T	44467252	C	T	44467252	3	4	158	1	0	0	0	0	1	0	0	0	10724	884	31	1	541	1	NUDCD3	7	44467252	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	320151	44467252	114671411	1131	84912											
OGDH	4967	broad.mit.edu	37	chr7	44747288	44747288	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccaaggctactatgactaCgtgaagccaagacttcggac	9	11	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:44747288C>T	uc003tln.2	+	22	3013	c.2904C>T	c.(2902-2904)TAC>TAT	p.Y968Y	OGDH_uc011kbx.1_Silent_p.Y964Y|OGDH_uc011kby.1_Silent_p.Y818Y|OGDH_uc003tlp.2_Silent_p.Y979Y|OGDH_uc011kbz.1_Silent_p.Y763Y	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	968					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	ACTATGACTACGTGAAGCCAA	0.597													T	44747288	C	T	44747288	2	4	158	1	0	0	0	0	0	0	0	1	10839	547	19	1		1	OGDH	7	44747288	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	280036	44747288	114391375	1132	84913											
ZMIZ2	83637	broad.mit.edu	37	chr7	44805866	44805866	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgggaccaccccccatctcCtaccagtctgacattcccag	6	20	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:44805866C>A	uc003tlr.2	+	17	2469	c.2346C>A	c.(2344-2346)TCC>TCA	p.S782S	ZMIZ2_uc003tlq.2_Silent_p.S724S|ZMIZ2_uc003tls.2_Silent_p.S756S|ZMIZ2_uc003tlt.2_Silent_p.S405S|ZMIZ2_uc010kyj.2_Silent_p.S304S|ZMIZ2_uc003tlu.2_Silent_p.S63S|ZMIZ2_uc010kyk.1_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	782	Pro-rich.			S -> C (in Ref. 9).	positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						CCCCCATCTCCTACCAGTCTG	0.637													A	44805866	C	A	44805866	2	1	158	1	0	0	0	0	0	0	0	1	17694	668	24	5		5	ZMIZ2	7	44805866	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	58578	44805866	114332797	1133	84914											
ADCY1	107	broad.mit.edu	37	chr7	45753552	45753552	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctccctccacactccccAggccagtacctgccctctgc	8	21	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:45753552A>G	uc003tne.3	+	20	3336	c.3318A>G	c.(3316-3318)CCA>CCG	p.P1106P		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	1106	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACACTCCCCAGGCCAGTACC	0.657													G	45753552	A	G	45753552	2	3	158	1	0	0	0	0	0	0	0	1	292	175	7	3		3	ADCY1	7	45753552	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	947686	45753552	113385111	1134	84915											
IGFBP1	3484	broad.mit.edu	37	chr7	45930305	45930305	+	Frame_Shift_Del	DEL	A	A	-													ctctccatgtcaccaacatcAaaaaatggaaggtgaggccc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:45930304_45930304CA>C	uc003tnp.3	+	1	800	c.507_507CA>C	c.(505-507)atcfs	p.I169fs		NM_000596	NP_000587	P08833	IBP1_HUMAN	Homo sapiens insulin-like growth factor binding protein 1 (IGFBP1), mRNA.	169						extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						TCACCAACATCAAAAAATGGA	0.522											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	45930305	A	-	45930305	7	5	158	1	0	1	0	1	0	0	0	0	7578	131	5	0	514	0	IGFBP1	7	45930305	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	176753	45930305	113208358	1135	84916											
PKD1L1	168507	broad.mit.edu	37	chr7	47866996	47866996	+	Frame_Shift_Del	DEL	C	C	-													tcctcatcctctgtctggtgCccctcagctgggccttggat							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:47866995_47866995GC>G	uc003tny.2	-	44	6841	c.6807_6807GC>C	c.(6805-6807)ggcfs	p.G2269fs	C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_5'UTR	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2269					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCTGTCTGGTGCCCCTCAGCT	0.652													-	47866996	C	-	47866996	7	5	158	1	0	1	0	1	0	0	0	0	11964	739	26	0	1795	0	PKD1L1	7	47866996	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	1936691	47866996	111271667	1136	84917											
PKD1L1	168507	broad.mit.edu	37	chr7	47917169	47917169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacctgacaggccatgtccCgaggagccgggttgactgtc	14	13	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:47917169C>T	uc003tny.1	-	22	3581	c.3581G>A	c.(3580-3582)CGG>CAG	p.R1194Q		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1194	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GGCCATGTCCCGAGGAGCCGG	0.537													T	47917169	C	T	47917169	3	4	158	1	0	0	0	0	1	0	0	0	11964	652	23	1	5112	1	PKD1L1	7	47917169	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	50173	47917169	111221494	1137	84918											
PKD1L1	168507	broad.mit.edu	37	chr7	47921655	47921655	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcggcactcaagctaggTcctgatcctggaaagctggt	11	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:47921655T>C	uc003tny.1	-	20	3294	c.3294A>G	c.(3292-3294)GGA>GGG	p.G1098G		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1098	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						TCAAGCTAGGTCCTGATCCTG	0.493													C	47921655	T	C	47921655	2	2	158	1	0	0	0	0	0	0	0	1	11964	1654	58	3		3	PKD1L1	7	47921655	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	4486	47921655	111217008	1138	84919											
IKZF1	10320	broad.mit.edu	37	chr7	50468030	50468030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaccacatcgccccgcacgCgcgcaacgggctgtcgctca	10	19	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:50468030C>T	uc003tow.3	+	9	1433	c.1265C>T	c.(1264-1266)GCG>GTG	p.A422V	IKZF1_uc003tox.3_Missense_Mutation_p.A380V|IKZF1_uc003toy.3_Missense_Mutation_p.A380V|IKZF1_uc011kck.1_Missense_Mutation_p.A335V|IKZF1_uc003toz.3_Missense_Mutation_p.A392V|IKZF1_uc010kyx.2_Missense_Mutation_p.A162V|IKZF1_uc003tpa.3_Missense_Mutation_p.A164V	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	422				PHARNGL -> RRAQRV (in Ref. 2; AAB50683).	cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding			haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCCCCGCACGCGCGCAACGGG	0.677			D		ALL								T	50468030	C	T	50468030	3	4	158	1	0	0	0	0	1	0	0	0	7614	768	27	1	1291	1	IKZF1	7	50468030	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2546375	50468030	108670633	1139	84920											
FIGNL1	63979	broad.mit.edu	37	chr7	50514614	50514614	+	Frame_Shift_Del	DEL	T	T	-													tccaacagagagtctttgaaTtttttgccagcttgcatcat							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:50514613_50514613AT>A	uc003tpd.3	-	3	743	c.373_373AT>T	c.(373-375)ttcfs	p.F125fs	FIGNL1_uc003tpb.3_Frame_Shift_Del_p.F14fs|FIGNL1_uc003tpc.3_Frame_Shift_Del_p.F125fs|FIGNL1_uc003tpe.3_Frame_Shift_Del_p.F125fs|FIGNL1_uc010kyy.3_Frame_Shift_Del_p.F125fs|FIGNL1_uc022ada.1_Frame_Shift_Del_p.F125fs	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	125					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				GAGTCTTTGAATTTTTTGCCA	0.383													-	50514614	T	-	50514614	7	5	158	1	0	1	0	1	0	0	0	0	5892	1490	52	0	1656	0	FIGNL1	7	50514614	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	46584	50514614	108624049	1140	84921											
GRB10	2887	broad.mit.edu	37	chr7	50672995	50672995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggggccttaccctccaggCgtggccctcctccagggctg	13	18	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:50672995C>T	uc003tpi.2	-	12	1412	c.1381G>A	c.(1381-1383)GCC>ACC	p.A461T	GRB10_uc003tph.3_Missense_Mutation_p.A403T|GRB10_uc003tpj.2_Missense_Mutation_p.A415T|GRB10_uc003tpk.2_Missense_Mutation_p.A461T|GRB10_uc010kzb.2_Missense_Mutation_p.A403T|GRB10_uc003tpl.2_Missense_Mutation_p.A455T|GRB10_uc003tpm.2_Missense_Mutation_p.A403T|GRB10_uc003tpn.2_Missense_Mutation_p.A403T	NM_005311	NP_005302	Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10 isoform	461					insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity			lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6	Glioma(55;0.08)|all_neural(89;0.245)					ACCCTCCAGGCGTGGCCCTCC	0.647									Russell-Silver_syndrome				T	50672995	C	T	50672995	3	4	158	1	0	0	0	0	1	0	0	0	6756	768	27	1	423	1	GRB10	7	50672995	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	158381	50672995	108465668	1141	84922											
COBL	23242	broad.mit.edu	37	chr7	51111364	51111364	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccatccgggctgcagtgGctgccagaccccaggggcag	15	15	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:51111364G>A	uc003tpr.3	-	8	1307	c.1122C>T	c.(1120-1122)AGC>AGT	p.S374S	COBL_uc003tps.2_Silent_p.S431S|COBL_uc011kcl.1_Silent_p.S374S|COBL_uc010kzc.2_Silent_p.S374S|COBL_uc003tpp.3_Silent_p.S160S|COBL_uc003tpq.3_Silent_p.S315S	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	374										skin(3)|ovary(2)	5	Glioma(55;0.08)					GGCTGCAGTGGCTGCCAGACC	0.617													A	51111364	G	A	51111364	2	1	158	1	0	0	0	0	0	0	0	1	3653	1194	42	2		2	COBL	7	51111364	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	438369	51111364	108027299	1142	84923											
POM121L12	285877	broad.mit.edu	37	chr7	53103709	53103709	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcgagacctctcctgtgcCtgggagggttgcatgaaagg	17	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:53103709C>A	uc003tpz.2	+	1	361	c.345C>A	c.(343-345)GCC>GCA	p.A115A		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	115											0						TCTCCTGTGCCTGGGAGGGTT	0.711													A	53103709	C	A	53103709	2	1	158	1	0	0	0	0	0	0	0	1	12241	668	24	5		5	POM121L12	7	53103709	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1992345	53103709	106034954	1143	84924											
EGFR	1956	broad.mit.edu	37	chr7	55225437	55225437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaatcatacgcggcaggaCcaagcaacagtaagttgacc	10	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:55225437C>T	uc003tqk.2	+	11	1535	c.1289C>T	c.(1288-1290)ACC>ATC	p.T430I	EGFR_uc003tqi.2_Missense_Mutation_p.T430I|EGFR_uc003tqj.2_Missense_Mutation_p.T430I|EGFR_uc010kzg.1_Missense_Mutation_p.T385I|EGFR_uc011kco.1_Missense_Mutation_p.T377I|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	430	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CGCGGCAGGACCAAGCAACAG	0.348		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55225437	C	T	55225437	3	4	158	1	0	0	0	0	1	0	0	0	4967	507	18	4	1342	4	EGFR	7	55225437	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2121728	55225437	103913226	1144	84925											
EGFR	1956	broad.mit.edu	37	chr7	55229247	55229247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgagggctgctggggcccGgagcccagggactgcgtctc	17	15	1	0	rs142429250	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:55229247G>A	uc003tqk.2	+	13	1800	c.1554G>A	c.(1552-1554)CCG>CCA	p.P518P	EGFR_uc003tqi.2_Silent_p.P518P|EGFR_uc003tqj.2_Silent_p.P518P|EGFR_uc010kzg.1_Silent_p.P473P|EGFR_uc011kco.1_Silent_p.P465P|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	518	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCTGGGGCCCGGAGCCCAGGG	0.617		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55229247	G	A	55229247	2	1	158	1	0	0	0	0	0	0	0	1	4967	1103	39	1		1	EGFR	7	55229247	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3810	55229247	103909416	1145	84926											
GUSB	2990	broad.mit.edu	37	chr7	65445306	65445306	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggatcacctcccgttcgtAccacacccagccgacaaaat	6	17	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:65445306A>G	uc003tun.2	-	2	377	c.301T>C	c.(301-303)TAC>CAC	p.Y101H	GUSB_uc011kdt.1_Missense_Mutation_p.Y101H|GUSB_uc010kzw.1_5'UTR	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	101					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0						TCCCGTTCGTACCACACCCAG	0.607													G	65445306	A	G	65445306	3	3	158	1	0	0	0	0	1	0	0	0	6902	391	14	3	1698	3	GUSB	7	65445306	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	10216059	65445306	93693357	1146	84927											
GUSB	2990	broad.mit.edu	37	chr7	65447029	65447029	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgtcagagaagtcggcgcGgaagctccagaggccgtcca	15	11	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:65447029G>T	uc003tun.2	-	1	218	c.142C>A	c.(142-144)CGC>AGC	p.R48S	GUSB_uc011kdt.1_Missense_Mutation_p.R48S|GUSB_uc010kzw.1_5'UTR	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	48					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0						AAGTCGGCGCGGAAGCTCCAG	0.721													T	65447029	G	T	65447029	3	4	158	1	0	0	0	0	1	0	0	0	6902	1116	39	5	1861	5	GUSB	7	65447029	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1723	65447029	93691634	1147	84928											
SBDS	51119	broad.mit.edu	37	chr7	66458407	66458407	+	Splice_Site	DEL	A	A	-													ttctcctttagtcaaaatctAaaaaaatgccaacacattta							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:66458406_66458406TA>T	uc003tvm.1	-	3	443	c.259_splice	c.e3-1	p.I87_splice		NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN	Homo sapiens Shwachman-Bodian-Diamond syndrome (SBDS), mRNA.	87			I -> S (in SDS).		bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|rRNA processing|ribosomal large subunit biogenesis	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|rRNA binding|ribosome binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						AGTCAAAATCTAAAAAAATGC	0.323			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome				-	66458407	A	-	66458407	8	5	158	1	0	1	0	1	0	0	1	0	13857	377	13	0		0	SBDS	7	66458407	Splice_Site	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	1011378	66458407	92680256	1148	84929											
TYW1	55253	broad.mit.edu	37	chr7	66548473	66548473	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagatggaccagcctgaaaTgatcttgaaggaagccattg	12	7	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:66548473T>C	uc003tvn.2	+	11	1480	c.1331T>C	c.(1330-1332)ATG>ACG	p.M444T	TYW1_uc010lai.2_RNA|TYW1_uc011kef.1_Missense_Mutation_p.M58T	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	radical S-adenosyl methionine and flavodoxin	444					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			skin(1)	1		Lung NSC(55;0.0846)|all_lung(88;0.183)				CAGCCTGAAATGATCTTGAAG	0.428													C	66548473	T	C	66548473	3	2	158	1	0	0	0	0	1	0	0	0	16815	1464	51	3	1373	3	TYW1	7	66548473	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	90066	66548473	92590190	1149	84930											
AUTS2	26053	broad.mit.edu	37	chr7	70250957	70250957	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagagccttttaatcggccGtctacattcacaggcctagc	9	13	2	1	rs143340591		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:70250957G>A	uc003tvw.3	+	17	2984	c.2241G>A	c.(2239-2241)CCG>CCA	p.P747P	AUTS2_uc003tvx.3_Silent_p.P723P|AUTS2_uc011keg.1_Silent_p.P199P	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	747										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TTAATCGGCCGTCTACATTCA	0.527													A	70250957	G	A	70250957	2	1	158	1	0	0	0	0	0	0	0	1	1225	1132	40	1		1	AUTS2	7	70250957	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3702484	70250957	88887706	1150	84931											
WBSCR22	114049	broad.mit.edu	37	chr7	73105316	73105317	+	Frame_Shift_Ins	INS	-	-	T													tgccaagcgcctgtactgctINStttttgcttctcttttttct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:73105315_73105316C>CT	uc003tyu.3	+	5	490_491	c.432_433C>CT	c.(430-435)tgctttfs	p.C144fs	WBSCR22_uc010lbi.1_Intron|WBSCR22_uc003tyv.3_Frame_Shift_Ins_p.C106fs|WBSCR22_uc003tyt.3_Frame_Shift_Ins_p.C144fs|WBSCR22_uc022afv.1_Intron|WBSCR22_uc003tyw.1_Intron	NM_001202560	NP_001189489	O43709	WBS22_HUMAN	Homo sapiens Williams Beuren syndrome chromosome region 22 (WBSCR22), transcript variant 1, mRNA.	144						nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				GCCTGTACTGCTTTTTTGCTTC	0.48													T	73105317	-	T	73105316	7	5	158	1	0	1	1	0	0	0	0	0	17262	1609	56	0	455	0	WBSCR22	7	73105316	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	2854359	73105316	86033347	1151	84932											
LIMK1	3984	broad.mit.edu	37	chr7	73513362	73513362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccccggcggctcttgcagCgggcactgctactaccagac	11	17	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:73513362C>T	uc003uaa.1	+	5	567	c.402C>T	c.(400-402)TGC>TGT	p.C134C	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Silent_p.C100C|LIMK1_uc003uac.1_5'UTR	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	134	LIM zinc-binding 2.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			stomach(2)|ovary(1)	3		Lung NSC(55;0.137)				GCTCTTGCAGCGGGCACTGCT	0.627													T	73513362	C	T	73513362	2	4	158	1	0	0	0	0	0	0	0	1	8801	782	27	1		1	LIMK1	7	73513362	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	408046	73513362	85625301	1152	84933											
CLIP2	7461	broad.mit.edu	37	chr7	73753188	73753188	+	Frame_Shift_Del	DEL	C	C	-													tgcattcgggcacggccacgCccccgctgaccagccgcgtc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:73753187_73753187GC>G	uc003uam.3	+	2	858	c.531_531GC>G	c.(529-531)acgfs	p.T177fs	CLIP2_uc003uan.3_Frame_Shift_Del_p.T177fs	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	177						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCACGGCCACGCCCCCGCTGA	0.672													-	73753188	C	-	73753188	7	5	158	1	0	1	0	1	0	0	0	0	3533	739	26	0	538	0	CLIP2	7	73753188	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	239826	73753188	85385475	1153	84934											
POM121C	100101267	broad.mit.edu	37	chr7	75050921	75050921	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtggctgtgctcccacTctgtcctgctccaaagctga	12	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:75050921T>G	uc003udk.3	-	13	3499	c.2614A>C	c.(2614-2616)AGT>CGT	p.S872R		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	POM121 membrane glycoprotein (rat)-like	1114	Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding				0						GTGCTCCCACTCTGTCCTGCT	0.662													G	75050921	T	G	75050921	3	3	158	1	0	0	0	0	1	0	0	0	12240	1551	54	5	361	5	POM121C	7	75050921	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1297733	75050921	84087742	1154	84935											
POR	5447	broad.mit.edu	37	chr7	75601744	75601747	+	Frame_Shift_Del	DEL	AGAG	AGAG	-													cttgcaggacctcctctgtcAgagagagcagctttgtggaa							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:75601744_75601747delAGAG	uc003udy.2	+	3	284_287	c.202_205delAGAG	c.(202-207)AGAGAGfs	p.R68fs	POR_uc011kgb.1_RNA	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	65_66					cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	CTCCTCTGTCAGAGAGAGCAGCTT	0.52											OREG0018131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	75601747	AGAG	-	75601744	7	5	158	1	0	1	0	1	0	0	0	0	12257	180	7	0	208	0	POR	7	75601744	Frame_Shift_Del	DEL	AGAG	TCGA-CD-A4MG-01A-11D-A25D-08	550823	75601744	83536919	1155	84936											
SEMA3C	10512	broad.mit.edu	37	chr7	80378302	80378303	+	Frame_Shift_Ins	INS	-	-	T													ctccagaaaagtggtgttatINStttttactccatactggaca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:80378301_80378302A>AT	uc011kgw.2	-	16	1887_1888	c.1808_1809T>AT	c.(1807-1809)aatfs	p.N603fs	SEMA3C_uc003uhj.3_Frame_Shift_Ins_p.N585fs	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	585	Ig-like C2-type.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AAGTGGTGTTATTTTTTACTCC	0.426													T	80378303	-	T	80378302	7	5	158	1	0	1	1	0	0	0	0	0	14026	1493	52	0	509	0	SEMA3C	7	80378302	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	4776558	80378302	78760361	1156	84937											
PCLO	27445	broad.mit.edu	37	chr7	82579421	82579421	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgctgtcaccatatttccCtacacgagctttcctccttg	5	15	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:82579421C>A	uc003uhx.2	-	6	10772	c.10483G>T	c.(10483-10485)GGG>TGG	p.G3495W	PCLO_uc003uhv.2_Missense_Mutation_p.G3495W|PCLO_uc010lec.2_Missense_Mutation_p.G460W	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3426					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CCATATTTCCCTACACGAGCT	0.453													A	82579421	C	A	82579421	3	1	158	1	0	0	0	0	1	0	0	0	11583	681	24	5	5042	5	PCLO	7	82579421	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2201119	82579421	76559242	1157	84938											
PCLO	27445	broad.mit.edu	37	chr7	82581681	82581681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaatagccaatgtcactGcatgtgctggagtacctaga	10	8	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:82581681G>A	uc003uhx.2	-	5	8877	c.8588C>T	c.(8587-8589)GCA>GTA	p.A2863V	PCLO_uc003uhv.2_Missense_Mutation_p.A2863V|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2794					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CAATGTCACTGCATGTGCTGG	0.478													A	82581681	G	A	82581681	3	1	158	1	0	0	0	0	1	0	0	0	11583	1319	46	2	6941	2	PCLO	7	82581681	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2260	82581681	76556982	1158	84939											
PCLO	27445	broad.mit.edu	37	chr7	82581762	82581762	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcacttggtatcctgTatgggggctcagcatgcttt	12	10	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:82581762T>C	uc003uhx.2	-	5	8796	c.8507A>G	c.(8506-8508)TAC>TGC	p.Y2836C	PCLO_uc003uhv.2_Missense_Mutation_p.Y2836C|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2767					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TGGTATCCTGTATGGGGGCTC	0.458													C	82581762	T	C	82581762	3	2	158	1	0	0	0	0	1	0	0	0	11583	1638	57	3	7022	3	PCLO	7	82581762	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	81	82581762	76556901	1159	84940											
SEMA3E	9723	broad.mit.edu	37	chr7	82997084	82997084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagttgctataaccgatcaGctgcaagaattccttgtacc	8	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:82997084G>T	uc003uhy.1	-	17	2612	c.2146C>A	c.(2146-2148)CTG>ATG	p.L716M		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	716					axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				TAACCGATCAGCTGCAAGAAT	0.468													T	82997084	G	T	82997084	3	4	158	1	0	0	0	0	1	0	0	0	14028	962	34	5	185	5	SEMA3E	7	82997084	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	415322	82997084	76141579	1160	84941											
DMTF1	9988	broad.mit.edu	37	chr7	86813856	86813856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgctcagaaaagcaatgtCgttctaaatggctcaactac	7	12	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:86813856C>T	uc003uih.2	+	11	1290	c.964C>T	c.(964-966)CGT>TGT	p.R322C	DMTF1_uc003uii.2_Missense_Mutation_p.R56C|DMTF1_uc003uij.2_Missense_Mutation_p.R56C|DMTF1_uc011khb.1_Missense_Mutation_p.R234C|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.R322C|DMTF1_uc003uin.2_Missense_Mutation_p.R56C	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	322	H-T-H motif (By similarity).|Interaction with CCND1, CCND2 and CCND3 (By similarity).|HTH myb-type.|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)					AAAGCAATGTCGTTCTAAATG	0.483													T	86813856	C	T	86813856	3	4	158	1	0	0	0	0	1	0	0	0	4592	884	31	1	998	1	DMTF1	7	86813856	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	3816772	86813856	72324807	1161	84942											
ZNF804B	219578	broad.mit.edu	37	chr7	88962741	88962741	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagaaaagcaactccagcaaGgaattttccccattaagaat	6	9	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:88962741G>T	uc011khi.1	+	4	983	c.445G>T	c.(445-447)GGA>TGA	p.G149*		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	149						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACTCCAGCAAGGAATTTTCCC	0.388										HNSCC(36;0.09)			T	88962741	G	T	88962741	4	4	158	1	0	0	0	0	0	1	0	0	18168	1001	35	5	459	5	ZNF804B	7	88962741	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2148885	88962741	70175922	1162	84943											
ZNF804B	219578	broad.mit.edu	37	chr7	88965970	88965970	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtttctgcttccttaagttCtcatagcagtcacctcccta	5	13	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:88965970C>A	uc011khi.1	+	4	4212	c.3674C>A	c.(3673-3675)TCT>TAT	p.S1225Y		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1225						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCCTTAAGTTCTCATAGCAGT	0.468										HNSCC(36;0.09)			A	88965970	C	A	88965970	3	1	158	1	0	0	0	0	1	0	0	0	18168	913	32	5	3688	5	ZNF804B	7	88965970	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	3229	88965970	70172693	1163	84944											
ZNF804B	219578	broad.mit.edu	37	chr7	88966013	88966013	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcatctacatcctctttcAcaggcacatttcagtcctat	4	14	5	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:88966013A>G	uc011khi.1	+	4	4255	c.3717A>G	c.(3715-3717)TCA>TCG	p.S1239S		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1239						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATCCTCTTTCACAGGCACATT	0.468										HNSCC(36;0.09)			G	88966013	A	G	88966013	2	3	158	1	0	0	0	0	0	0	0	1	18168	146	6	3		3	ZNF804B	7	88966013	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	43	88966013	70172650	1164	84945											
ZNF804B	219578	broad.mit.edu	37	chr7	88966093	88966093	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccactttcttagcaggtcAtcccctgcatttagtagctg	7	14	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:88966093A>G	uc011khi.1	+	4	4335	c.3797A>G	c.(3796-3798)CAT>CGT	p.H1266R		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1266						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTAGCAGGTCATCCCCTGCAT	0.478										HNSCC(36;0.09)			G	88966093	A	G	88966093	3	3	158	1	0	0	0	0	1	0	0	0	18168	217	8	3	3811	3	ZNF804B	7	88966093	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	80	88966093	70172570	1165	84946											
STEAP1	26872	broad.mit.edu	37	chr7	89790371	89790371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttataaaattccaatcctgGtcatcaacaaagtcttgcca	4	10	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:89790371G>A	uc003ujx.2	+	3	537	c.337G>A	c.(337-339)GTC>ATC	p.V113I	STEAP1_uc010lem.2_Missense_Mutation_p.V113I	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the	113					electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	all_hematologic(106;0.112)					TCCAATCCTGGTCATCAACAA	0.383													A	89790371	G	A	89790371	3	1	158	1	0	0	0	0	1	0	0	0	15276	1261	44	4	343	4	STEAP1	7	89790371	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	824278	89790371	69348292	1166	84947											
AKAP9	10142	broad.mit.edu	37	chr7	91641856	91641856	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaagataaagctctttgCagtcttaaagaagagcttat	8	5	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:91641856C>T	uc003ulg.2	+	9	3657	c.3432C>T	c.(3430-3432)TGC>TGT	p.C1144C	AKAP9_uc003ule.2_Silent_p.C1156C|AKAP9_uc003ulf.2_Silent_p.C1144C|AKAP9_uc003uli.2_Silent_p.C769C	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1156	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAGCTCTTTGCAGTCTTAAAG	0.368			T	BRAF	papillary thyroid								T	91641856	C	T	91641856	2	4	158	1	0	0	0	0	0	0	0	1	459	718	25	2		2	AKAP9	7	91641856	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1851485	91641856	67496807	1167	84948											
AKAP9	10142	broad.mit.edu	37	chr7	91668044	91668044	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgctgactatttcagaAgaaatgttctccaaagataa	8	6	2	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:91668044A>G	uc003ulg.2	+	17	4875	c.4650A>G	c.(4648-4650)GAA>GAG	p.E1550E	AKAP9_uc003ule.2_Silent_p.E1562E|AKAP9_uc003ulf.2_Silent_p.E1550E|AKAP9_uc003uli.2_Silent_p.E1175E	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1562					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTATTTCAGAAGAAATGTTCT	0.299			T	BRAF	papillary thyroid								G	91668044	A	G	91668044	2	3	158	1	0	0	0	0	0	0	0	1	459	69	3	3		3	AKAP9	7	91668044	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	26188	91668044	67470619	1168	84949											
ANKIB1	54467	broad.mit.edu	37	chr7	92027979	92027979	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcaactacagaaatcAgtgcagattcccagctcccc	6	16	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:92027979A>G	uc003ulw.2	+	20	3362	c.2986A>G	c.(2986-2988)AGT>GGT	p.S996G	ANKIB1_uc010lew.1_Missense_Mutation_p.S265G	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	996							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TACAGAAATCAGTGCAGATTC	0.473													G	92027979	A	G	92027979	3	3	158	1	0	0	0	0	1	0	0	0	630	188	7	3	3060	3	ANKIB1	7	92027979	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	359935	92027979	67110684	1169	84950											
PEX1	5189	broad.mit.edu	37	chr7	92134190	92134191	+	Frame_Shift_Ins	INS	-	-	T													gagaaagccacctctagggtINStttttgtatgttttcaagcc					rs146228151		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:92134189_92134190G>GT	uc003uly.3	-	11	2023_2024	c.1927_1928C>AC	c.(1927-1929)accfs	p.T643fs	PEX1_uc011khr.2_Frame_Shift_Ins_p.T435fs|PEX1_uc010ley.3_Intron|PEX1_uc011khs.2_Frame_Shift_Ins_p.T321fs|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	643			Missing (in NALD).		microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CACCTCTAGGGTTTTTTGTATG	0.446													T	92134191	-	T	92134190	7	5	158	1	0	1	1	0	0	0	0	0	11735	1725	60	0	1976	0	PEX1	7	92134190	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	106211	92134190	67004473	1170	84951											
SAMD9	54809	broad.mit.edu	37	chr7	92735067	92735067	+	Frame_Shift_Del	DEL	T	T	-													tatctgggttctctttacccTtttgtttttgctttgaagtt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:92735066_92735066CT>C	uc003umf.3	-	2	615	c.345_345AG>G	c.(343-345)aagfs	p.K115fs	SAMD9_uc003umg.3_Frame_Shift_Del_p.K115fs|SAMD9_uc022ahg.1_Frame_Shift_Del_p.K115fs	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	115						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTCTTTACCCTTTTGTTTTT	0.378													-	92735067	T	-	92735067	7	5	158	1	0	1	0	1	0	0	0	0	13826	1609	56	0	4429	0	SAMD9	7	92735067	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	600877	92735067	66403596	1171	84952											
HEPACAM2	253012	broad.mit.edu	37	chr7	92838028	92838028	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagcgaggcccatgcttaaTgatatatgtagtattgtcag	10	6	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:92838028T>C	uc003umm.2	-	4	900	c.877A>G	c.(877-879)ATT>GTT	p.I293V	HEPACAM2_uc003uml.2_Missense_Mutation_p.I281V|HEPACAM2_uc010lff.2_Missense_Mutation_p.I281V|HEPACAM2_uc011khy.1_Missense_Mutation_p.I316V	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 1	293	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5						CCATGCTTAATGATATATGTA	0.458													C	92838028	T	C	92838028	3	2	158	1	0	0	0	0	1	0	0	0	7053	1464	51	3	539	3	HEPACAM2	7	92838028	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	102961	92838028	66300635	1172	84953											
HEPACAM2	253012	broad.mit.edu	37	chr7	92844875	92844875	+	Frame_Shift_Del	DEL	T	T	-													tggtgtggacaggtctcccaTtttttagccattggtaagct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:92844874_92844874AT>A	uc011khy.2	-	3	647	c.624_624AT>T	c.(622-624)aatfs	p.N208fs	HEPACAM2_uc003uml.3_Frame_Shift_Del_p.N173fs|HEPACAM2_uc010lff.3_Frame_Shift_Del_p.N173fs|HEPACAM2_uc003umm.3_Frame_Shift_Del_p.N185fs	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	185	Ig-like C2-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CAGGTCTCCCATTTTTTAGCC	0.502													-	92844875	T	-	92844875	7	5	158	1	0	1	0	1	0	0	0	0	7053	1493	52	0	866	0	HEPACAM2	7	92844875	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	6847	92844875	66293788	1173	84954											
CASD1	64921	broad.mit.edu	37	chr7	94185017	94185017	+	Frame_Shift_Del	DEL	T	T	-													ggttggcatgtatagctgcaTttttttgtggactcctcatc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:94185016_94185016AT>A	uc003uni.4	+	17	2567	c.2340_2340AT>A	c.(2338-2340)gcafs	p.A780fs	CASD1_uc003unj.4_Frame_Shift_Del_p.A780fs	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	780						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GTATAGCTGCATTTTTTTGTG	0.343													-	94185017	T	-	94185017	7	5	158	1	0	1	0	1	0	0	0	0	2664	1493	52	0	2411	0	CASD1	7	94185017	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	1340142	94185017	64953646	1174	84955											
PPP1R9A	55607	broad.mit.edu	37	chr7	94740662	94740662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtatgaacttgaaaaacGtgtagaaaagctggaacttt	10	4	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:94740662G>A	uc003unp.2	+	3	1769	c.1487G>A	c.(1486-1488)CGT>CAT	p.R496H	PPP1R9A_uc010lfj.2_Missense_Mutation_p.R496H|PPP1R9A_uc011kif.1_Missense_Mutation_p.R496H|PPP1R9A_uc003unq.2_Missense_Mutation_p.R496H|PPP1R9A_uc011kig.1_Missense_Mutation_p.R496H	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	496	Interacts with protein phosphatase 1 (By similarity).					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTTGAAAAACGTGTAGAAAAG	0.383										HNSCC(28;0.073)			A	94740662	G	A	94740662	3	1	158	1	0	0	0	0	1	0	0	0	12378	1145	40	1	1493	1	PPP1R9A	7	94740662	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	555645	94740662	64398001	1175	84956											
PON3	5446	broad.mit.edu	37	chr7	94991719	94991719	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatagttcagtagcttcatAggattaggatggcatcctgc	10	7	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:94991719A>G	uc003unt.2	-	8	886	c.861T>C	c.(859-861)CCT>CCC	p.P287P	PON1_uc011kih.1_Intron	NM_000940	NP_000931	Q15166	PON3_HUMAN	paraoxonase 3	287					aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus	extracellular space	aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity			ovary(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			GTAGCTTCATAGGATTAGGAT	0.463													G	94991719	A	G	94991719	2	3	158	1	0	0	0	0	0	0	0	1	12250	407	15	3		3	PON3	7	94991719	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	251057	94991719	64146944	1176	84957											
DYNC1I1	1780	broad.mit.edu	37	chr7	95442521	95442521	+	Frame_Shift_Del	DEL	T	T	-													tcaccagtgcagccgctgcaTtttttaacatgggatacctg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:95442520_95442520AT>A	uc003uoc.4	+	3	513	c.236_236AT>A	c.(235-237)catfs	p.H79fs	DYNC1I1_uc003uod.4_Intron|DYNC1I1_uc003uob.3_Intron|DYNC1I1_uc003uoe.4_Frame_Shift_Del_p.H79fs|DYNC1I1_uc010lfl.3_Intron	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	79	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CAGCCGCTGCATTTTTTAACA	0.448													-	95442521	T	-	95442521	7	5	158	1	0	1	0	1	0	0	0	0	4842	1490	52	0	247	0	DYNC1I1	7	95442521	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	450802	95442521	63696142	1177	84958											
TECPR1	25851	broad.mit.edu	37	chr7	97852330	97852330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctccgacacgcccaggCggcacagcacatcccccttg	10	18	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:97852330C>T	uc003upg.2	-	21	3105	c.2900G>A	c.(2899-2901)CGC>CAC	p.R967H		NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	967	TECPR 6.					integral to membrane	protein binding			pancreas(1)	1						CACGCCCAGGCGGCACAGCAC	0.657													T	97852330	C	T	97852330	3	4	158	1	0	0	0	0	1	0	0	0	15740	768	27	1	621	1	TECPR1	7	97852330	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2409809	97852330	61286333	1178	84959											
TRRAP	8295	broad.mit.edu	37	chr7	98574269	98574269	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacctggggaagacacacaAcctctggttccggtccacgc	11	14	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:98574269A>G	uc003upp.2	+	54	8311	c.8102A>G	c.(8101-8103)AAC>AGC	p.N2701S	TRRAP_uc011kis.1_Missense_Mutation_p.N2683S|TRRAP_uc003upr.2_Missense_Mutation_p.N2400S	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2701					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAGACACACAACCTCTGGTTC	0.557													G	98574269	A	G	98574269	3	3	158	1	0	0	0	0	1	0	0	0	16598	43	2	3	8254	3	TRRAP	7	98574269	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	721939	98574269	60564394	1179	84960											
TRRAP	8295	broad.mit.edu	37	chr7	98609709	98609709	+	Frame_Shift_Del	DEL	A	A	-													cgcaggtggatggcattctgAaaacggttctccgggacgag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:98609709delA	uc003upp.2	+	72	11520	c.11311delA	c.(11311-11313)AAAfs	p.K3771fs	TRRAP_uc011kis.1_Frame_Shift_Del_p.K3742fs|TRRAP_uc003upr.2_Frame_Shift_Del_p.K3477fs|TRRAP_uc003ups.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3771	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGCATTCTGAAAACGGTTCT	0.547													-	98609709	A	-	98609709	7	5	158	1	0	1	0	1	0	0	0	0	16598	247	9	0	11502	0	TRRAP	7	98609709	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	35440	98609709	60528954	1180	84961											
ZNF394	84124	broad.mit.edu	37	chr7	99092078	99092078	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggagaattttcaagttTcaggggcaaggggtctccgg	14	7	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:99092078T>C	uc003uqs.2	-	3	921	c.760A>G	c.(760-762)AAA>GAA	p.K254E	ZNF394_uc003uqt.2_Missense_Mutation_p.K47E	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	zinc finger protein 394	254					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TTTTCAAGTTTCAGGGGCAAG	0.473													C	99092078	T	C	99092078	3	2	158	1	0	0	0	0	1	0	0	0	17877	1792	62	3	929	3	ZNF394	7	99092078	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	482369	99092078	60046585	1181	84962											
ZNF498	221785	broad.mit.edu	37	chr7	99217354	99217354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctagtccagagacttttcGgctgaggtttcggcagttcc	11	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:99217354G>A	uc003url.1	+	4	452	c.125G>A	c.(124-126)CGG>CAG	p.R42Q	ZNF498_uc003urm.1_5'UTR|ZNF498_uc010lge.1_5'UTR|ZNF498_uc003urn.2_RNA|ZNF498_uc010lgf.1_Missense_Mutation_p.R42Q|ZNF498_uc003uro.1_5'Flank	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	42	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GAGACTTTTCGGCTGAGGTTT	0.597													A	99217354	G	A	99217354	3	1	158	1	0	0	0	0	1	0	0	0	17944	1116	39	1	127	1	ZNF498	7	99217354	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	125276	99217354	59921309	1182	84963											
AZGP1	563	broad.mit.edu	37	chr7	99569446	99569446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggccttctgaagttggCtgtcctgcttccaatcctcc	8	16	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:99569446C>T	uc003ush.2	-	2	304	c.260G>A	c.(259-261)AGC>AAC	p.S87N		NM_001185	NP_001176	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc	87					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CTGAAGTTGGCTGTCCTGCTT	0.483													T	99569446	C	T	99569446	3	4	158	1	0	0	0	0	1	0	0	0	1239	797	28	2	648	2	AZGP1	7	99569446	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	352092	99569446	59569217	1183	84964											
ZSCAN21	7589	broad.mit.edu	37	chr7	99654775	99654775	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgttccgccagcgcttcaGgcagtttgggtaccatgata	12	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:99654775G>T	uc003uso.2	+	2	290	c.146G>T	c.(145-147)AGG>ATG	p.R49M	ZSCAN21_uc011kje.1_Missense_Mutation_p.R48M|ZSCAN21_uc003usn.1_Missense_Mutation_p.R48M	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	zinc finger protein 38	49	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CAGCGCTTCAGGCAGTTTGGG	0.592													T	99654775	G	T	99654775	3	4	158	1	0	0	0	0	1	0	0	0	18230	1000	35	5	148	5	ZSCAN21	7	99654775	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	85329	99654775	59483888	1184	84965											
MCM7	4176	broad.mit.edu	37	chr7	99696968	99696968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcccagggtcccgactcCgctgctccatcattagccga	8	18	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:99696968C>T	uc003usw.1	-	4	845	c.335G>A	c.(334-336)CGG>CAG	p.R112Q	MCM7_uc003usv.1_5'UTR|MCM7_uc003usx.1_5'UTR|AP4M1_uc011kjg.1_5'Flank|AP4M1_uc010lgl.1_5'Flank|AP4M1_uc003utb.3_5'Flank|AP4M1_uc003utc.3_5'Flank|AP4M1_uc010lgm.2_5'Flank|AP4M1_uc003utd.2_5'Flank|AP4M1_uc011kjh.1_5'Flank|AP4M1_uc003ute.3_5'Flank|AP4M1_uc003utf.3_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	112					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GTCCCGACTCCGCTGCTCCAT	0.473													T	99696968	C	T	99696968	3	4	158	1	0	0	0	0	1	0	0	0	9392	652	23	1	1872	1	MCM7	7	99696968	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	42193	99696968	59441695	1185	84966											
STAG3	10734	broad.mit.edu	37	chr7	99796125	99796125	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggggtgctgacggacgcGgattgtgagagcgtctaccc	17	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:99796125G>A	uc003utx.1	+	13	1427	c.1272G>A	c.(1270-1272)GCG>GCA	p.A424A	STAG3_uc010lgs.1_Silent_p.A212A|STAG3_uc011kjk.1_Silent_p.A366A|STAG3_uc003uub.1_5'Flank	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	424					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGACGGACGCGGATTGTGAGA	0.517													A	99796125	G	A	99796125	2	1	158	1	0	0	0	0	0	0	0	1	15243	1103	39	1		1	STAG3	7	99796125	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	99157	99796125	59342538	1186	84967											
MOSPD3	64598	broad.mit.edu	37	chr7	100212539	100212539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcctcttcttgctgacGgggattgtgtctgtggcctt	11	11	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:100212539G>A	uc003uvq.2	+	5	763	c.561G>A	c.(559-561)ACG>ACA	p.T187T	MOSPD3_uc003uvr.2_Silent_p.T187T|MOSPD3_uc003uvs.2_Silent_p.T187T|MOSPD3_uc003uvt.2_Silent_p.T177T	NM_001040097	NP_001035186	O75425	MSPD3_HUMAN	motile sperm domain containing 3 isoform a	187	Helical; (Potential).					integral to membrane	structural molecule activity			ovary(2)	2	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCTTGCTGACGGGGATTGTGT	0.617													A	100212539	G	A	100212539	2	1	158	1	0	0	0	0	0	0	0	1	9717	1103	39	1		1	MOSPD3	7	100212539	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	416414	100212539	58926124	1187	84968											
GIGYF1	64599	broad.mit.edu	37	chr7	100284395	100284395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctcgctgtctgagcgggCgtgctccttccttgggccag	14	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:100284395C>T	uc003uwg.1	-	7	1580	c.571G>A	c.(571-573)GCC>ACC	p.A191T		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	191										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCTGAGCGGGCGTGCTCCTTC	0.577													T	100284395	C	T	100284395	3	4	158	1	0	0	0	0	1	0	0	0	6377	768	27	1	2608	1	GIGYF1	7	100284395	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	71856	100284395	58854268	1188	84969											
GIGYF1	64599	broad.mit.edu	37	chr7	100285731	100285731	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcccccggacagggccctgAgcctggacacaacacagaga	12	16	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:100285731A>G	uc003uwg.1	-	2	1047	c.38T>C	c.(37-39)CTC>CCC	p.L13P		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	13										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CAGGGCCCTGAGCCTGGACAC	0.617													G	100285731	A	G	100285731	3	3	158	1	0	0	0	0	1	0	0	0	6377	304	11	3	3161	3	GIGYF1	7	100285731	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1336	100285731	58852932	1189	84970											
SLC12A9	56996	broad.mit.edu	37	chr7	100454755	100454755	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgccgccccggtttggccaCttcaccggcttcaacagcag	10	17	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:100454755C>G	uc003uwp.2	+	5	856	c.714C>G	c.(712-714)CAC>CAG	p.H238Q	SLC12A9_uc003uwo.1_Missense_Mutation_p.H149Q|SLC12A9_uc003uwq.2_Missense_Mutation_p.H149Q|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'UTR|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_5'UTR|SLC12A9_uc003uwv.2_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	238	Extracellular (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGTTTGGCCACTTCACCGGCT	0.652													G	100454755	C	G	100454755	3	3	158	1	0	0	0	0	1	0	0	0	14390	564	20	5	728	5	SLC12A9	7	100454755	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	169024	100454755	58683908	1190	84971											
MUC17	140453	broad.mit.edu	37	chr7	100683678	100683678	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccattaacaagtatgtctgTcagcaccatgccggtggcca	9	12	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:100683678T>A	uc003uxp.1	+	3	9034	c.8981T>A	c.(8980-8982)GTC>GAC	p.V2994D	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2994	Extracellular (Potential).|Ser-rich.|48.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTATGTCTGTCAGCACCATG	0.502													A	100683678	T	A	100683678	3	1	158	1	0	0	0	0	1	0	0	0	9974	1667	58	5	8991	5	MUC17	7	100683678	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	228923	100683678	58454985	1191	84972											
MUC17	140453	broad.mit.edu	37	chr7	100686959	100686959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgactgtgaaccctgagGctgtcaccaccatgaccacc	8	17	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:100686959G>A	uc003uxp.1	+	3	12315	c.12262G>A	c.(12262-12264)GCT>ACT	p.A4088T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	4088	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GAACCCTGAGGCTGTCACCAC	0.542													A	100686959	G	A	100686959	3	1	158	1	0	0	0	0	1	0	0	0	9974	1203	42	2	12272	2	MUC17	7	100686959	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3281	100686959	58451704	1192	84973											
AP1S1	1174	broad.mit.edu	37	chr7	100802359	100802359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgcgagctggacatcaTcttcaactttgagaaggcct	12	9	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:100802359T>C	uc003uxv.3	+	4	421	c.311T>C	c.(310-312)ATC>ACC	p.I104T		NM_001283	NP_001274	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1	104					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)					CTGGACATCATCTTCAACTTT	0.552													C	100802359	T	C	100802359	3	2	158	1	0	0	0	0	1	0	0	0	736	1435	50	3	325	3	AP1S1	7	100802359	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	115400	100802359	58336304	1193	84974											
CUX1	1523	broad.mit.edu	37	chr7	101845304	101845305	+	Frame_Shift_Ins	INS	-	-	C													gcgagacaccacagaacagcINScccctgccatcctccccgat					rs137933356		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:101845303_101845304G>GC	uc003uys.4	+	17	2886_2887	c.2759_2760G>GC	c.(2758-2760)agcfs	p.S920fs	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Frame_Shift_Ins_p.S909fs	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	909					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L911fs*20(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCACAGAACAGCCCCCTGCCAT	0.649													C	101845305	-	C	101845304	7	5	158	1	0	1	1	0	0	0	0	0	4064	738	26	0	2864	0	CUX1	7	101845304	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	1042945	101845304	57293359	1194	84975											
LRWD1	222229	broad.mit.edu	37	chr7	102108614	102108614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggagggcagccctgtgGcaggctccgatggcagccag	18	11	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:102108614G>A	uc003uzn.2	+	6	922	c.784G>A	c.(784-786)GCA>ACA	p.A262T	LRWD1_uc003uzo.2_Missense_Mutation_p.A110T	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain	262					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			skin(1)	1						CAGCCCTGTGGCAGGCTCCGA	0.687													A	102108614	G	A	102108614	3	1	158	1	0	0	0	0	1	0	0	0	9047	1203	42	2	806	2	LRWD1	7	102108614	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	263310	102108614	57030049	1195	84976											
LRWD1	222229	broad.mit.edu	37	chr7	102113048	102113048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctacttctcgctcagcgCctgccctggtgagcctgccc	11	18	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:102113048C>T	uc003uzn.2	+	13	1820	c.1682C>T	c.(1681-1683)GCC>GTC	p.A561V	LRWD1_uc003uzo.2_Missense_Mutation_p.A409V	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain	561	WD 4.				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			skin(1)	1						TCGCTCAGCGCCTGCCCTGGT	0.706													T	102113048	C	T	102113048	3	4	158	1	0	0	0	0	1	0	0	0	9047	739	26	2	1732	2	LRWD1	7	102113048	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	4434	102113048	57025615	1196	84977											
NAPEPLD	222236	broad.mit.edu	37	chr7	102769242	102769242	+	Splice_Site	DEL	A	A	-													atgtcctttggtgaagaactAaaaaaaacaagggggaaaaa							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:102769241_102769241TA>T	uc011klj.1	-	2	283	c.204_splice	c.e2-1	p.S68_splice	NAPEPLD_uc003vbd.2_Splice_Site|NAPEPLD_uc003vbc.2_Splice_Site|NAPEPLD_uc003vbe.2_Splice_Site|NAPEPLD_uc003vbf.3_Intron	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	Homo sapiens N-acyl phosphatidylethanolamine phospholipase D (NAPEPLD), transcript variant 2, mRNA.	0					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGTGAAGAACTAAAAAAAACA	0.338													-	102769242	A	-	102769242	8	5	158	1	0	1	0	1	0	0	1	0	10163	377	13	0		0	NAPEPLD	7	102769242	Splice_Site	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	656194	102769242	56369421	1197	84978											
DNAJC2	27000	broad.mit.edu	37	chr7	102962507	102962507	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccttagctaaccgagcagCttctaattcagcttgtcttt	6	12	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:102962507C>A	uc003vbo.2	-	10	1206	c.955G>T	c.(955-957)GCT>TCT	p.A319S	PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_5'UTR|DNAJC2_uc010lix.2_Missense_Mutation_p.A319S|DNAJC2_uc003vbp.2_5'UTR	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	319					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			kidney(1)	1						AACCGAGCAGCTTCTAATTCA	0.318													A	102962507	C	A	102962507	3	1	158	1	0	0	0	0	1	0	0	0	4639	797	28	5	942	5	DNAJC2	7	102962507	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	193265	102962507	56176156	1198	84979											
RELN	5649	broad.mit.edu	37	chr7	103137062	103137062	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccactgagcacgctccaccCcagagaccacaattccattg	6	18	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:103137062C>A	uc003vca.2	-	56	9264	c.9104G>T	c.(9103-9105)GGG>GTG	p.G3035V	RELN_uc010liz.2_Missense_Mutation_p.G3035V	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3035					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACGCTCCACCCCAGAGACCAC	0.483													A	103137062	C	A	103137062	3	1	158	1	0	0	0	0	1	0	0	0	13220	623	22	5	1318	5	RELN	7	103137062	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	174555	103137062	56001601	1199	84980											
RINT1	60561	broad.mit.edu	37	chr7	105187419	105187419	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcagcctccactctagtgtCtatggcagaacttgacatta	9	11	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:105187419C>A	uc003vda.1	+	5	809	c.578C>A	c.(577-579)TCT>TAT	p.S193Y	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	193					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	p.S193S(1)		ovary(3)|central_nervous_system(1)	4						ACTCTAGTGTCTATGGCAGAA	0.353													A	105187419	C	A	105187419	3	1	158	1	0	0	0	0	1	0	0	0	13376	913	32	5	596	5	RINT1	7	105187419	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2050357	105187419	53951244	1200	84981											
RINT1	60561	broad.mit.edu	37	chr7	105190859	105190859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgttcatggctatcctgGcacttttgctagttgtatgc	10	9	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:105190859G>A	uc003vda.1	+	9	1490	c.1259G>A	c.(1258-1260)GGC>GAC	p.G420D	RINT1_uc010ljj.1_5'UTR	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	420	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			ovary(3)|central_nervous_system(1)	4						GGCTATCCTGGCACTTTTGCT	0.418													A	105190859	G	A	105190859	3	1	158	1	0	0	0	0	1	0	0	0	13376	1203	42	2	1293	2	RINT1	7	105190859	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3440	105190859	53947804	1201	84982											
PIK3CG	5294	broad.mit.edu	37	chr7	106508571	106508571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgcgcatggcggaggtgGccagccgcgaccccaagctc	14	18	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:106508571G>A	uc003vdv.3	+	2	650	c.565G>A	c.(565-567)GCC>ACC	p.A189T	PIK3CG_uc003vdu.2_Missense_Mutation_p.A189T|PIK3CG_uc003vdw.2_Missense_Mutation_p.A189T	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	189					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						GGCGGAGGTGGCCAGCCGCGA	0.622													A	106508571	G	A	106508571	3	1	158	1	0	0	0	0	1	0	0	0	11916	1203	42	2	567	2	PIK3CG	7	106508571	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1317712	106508571	52630092	1202	84983											
LAMB1	3912	broad.mit.edu	37	chr7	107596053	107596053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctgacccaatgatggggtCgccatagtaaccagccaagc	10	13	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:107596053C>T	uc003vew.2	-	21	3048	c.2713G>A	c.(2713-2715)GAC>AAC	p.D905N	LAMB1_uc003vev.2_Missense_Mutation_p.D929N	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	905	Laminin EGF-like 8.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGATGGGGTCGCCATAGTAA	0.542													T	107596053	C	T	107596053	3	4	158	1	0	0	0	0	1	0	0	0	8610	884	31	1	2703	1	LAMB1	7	107596053	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1087482	107596053	51542610	1203	84984											
DOCK4	9732	broad.mit.edu	37	chr7	111372307	111372307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggagatcgcccggcaggcGagggggatactgatgtcgtg	18	8	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:111372307G>A	uc003vfx.2	-	51	5698	c.5429C>T	c.(5428-5430)TCG>TTG	p.S1810L	DOCK4_uc011kml.1_Missense_Mutation_p.S691L|DOCK4_uc011kmm.1_Missense_Mutation_p.S679L|DOCK4_uc003vfw.2_Missense_Mutation_p.S1222L|DOCK4_uc003vfy.2_Missense_Mutation_p.S1855L|DOCK4_uc003vfv.2_Missense_Mutation_p.S123L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1810	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				CCCGGCAGGCGAGGGGGATAC	0.463													A	111372307	G	A	111372307	3	1	158	1	0	0	0	0	1	0	0	0	4689	1059	37	1	479	1	DOCK4	7	111372307	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3776254	111372307	47766356	1204	84985											
DOCK4	9732	broad.mit.edu	37	chr7	111580273	111580273	+	Frame_Shift_Del	DEL	T	T	-													actggacactacaggcattcTttttttctcctgctcccatt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:111580272_111580272CT>C	uc003vfy.3	-	10	1139	c.870_870AG>G	c.(868-870)aagfs	p.K290fs	DOCK4_uc003vfx.3_Frame_Shift_Del_p.K290fs|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Frame_Shift_Del_p.K290fs	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	290					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TACAGGCATTCTTTTTTTCTC	0.453													-	111580273	T	-	111580273	7	5	158	1	0	1	0	1	0	0	0	0	4689	1609	56	0	5199	0	DOCK4	7	111580273	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	207966	111580273	47558390	1205	84986											
IFRD1	3475	broad.mit.edu	37	chr7	112112339	112112339	+	Frame_Shift_Del	DEL	A	A	-													atgtatattgattgctgggtAaaaaaacacacctatgacac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:112112338_112112338TA>T	uc003vgh.3	+	10	1576	c.1106_1106TA>T	c.(1105-1107)gtafs	p.V369fs	IFRD1_uc011kmn.2_Frame_Shift_Del_p.V319fs|IFRD1_uc003vgj.3_Frame_Shift_Del_p.V369fs|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Frame_Shift_Del_p.V319fs|IFRD1_uc003vgk.3_Frame_Shift_Del_p.V86fs	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	369					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						GATTGCTGGGTAAAAAAACAC	0.398													-	112112339	A	-	112112339	7	5	158	1	0	1	0	1	0	0	0	0	7553	349	13	0	1145	0	IFRD1	7	112112339	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	532066	112112339	47026324	1206	84987											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432590	117432590	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atctgagcttccatttctgtGcttcttcgtttctcagcgga	8	11	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:117432590G>C	uc003vjf.2	-	4	752	c.660C>G	c.(658-660)AGC>AGG	p.S220R		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	220	Potential.									ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCATTTCTGTGCTTCTTCGTT	0.483													C	117432590	G	C	117432590	3	2	158	1	0	0	0	0	1	0	0	0	4045	1310	46	5	4411	5	CTTNBP2	7	117432590	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	5320251	117432590	41706073	1207	84988											
CTTNBP2	83992	broad.mit.edu	37	chr7	117450890	117450890	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattttcttgcagtgggccaTgactgcttcaaggatggaga	12	8	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:117450890T>C	uc003vjf.2	-	3	435	c.343A>G	c.(343-345)ATG>GTG	p.M115V		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	115										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CAGTGGGCCATGACTGCTTCA	0.507													C	117450890	T	C	117450890	3	2	158	1	0	0	0	0	1	0	0	0	4045	1464	51	3	4732	3	CTTNBP2	7	117450890	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	18300	117450890	41687773	1208	84989											
ANKRD7	56311	broad.mit.edu	37	chr7	117876853	117876853	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgctccagaacagccctTattcttgctgtcagtggtga	9	11	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:117876853T>C	uc003vji.2	+	5	758	c.585T>C	c.(583-585)CTT>CTC	p.L195L		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	195	ANK 5.				male gonad development						0						GAACAGCCCTTATTCTTGCTG	0.378													C	117876853	T	C	117876853	2	2	158	1	0	0	0	0	0	0	0	1	686	1741	61	3		3	ANKRD7	7	117876853	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	425963	117876853	41261810	1209	84990											
KCND2	3751	broad.mit.edu	37	chr7	119915718	119915718	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgctacagttatgttctaCgcagagaaggggtcttcggc	12	9	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:119915718C>T	uc003vjj.1	+	1	1997	c.1032C>T	c.(1030-1032)TAC>TAT	p.Y344Y		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	344	Helical; Name=Segment S5; (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					TTATGTTCTACGCAGAGAAGG	0.507													T	119915718	C	T	119915718	2	4	158	1	0	0	0	0	0	0	0	1	8019	547	19	1		1	KCND2	7	119915718	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2038865	119915718	39222945	1210	84991											
C7orf58	79974	broad.mit.edu	37	chr7	120764394	120764394	+	Frame_Shift_Del	DEL	T	T	-													tttgttcacagctgcaaacaTtttttgagacattcctgaga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:120764393_120764393AT>A	uc003vjq.4	+	7	1374	c.927_927AT>A	c.(925-927)acafs	p.T309fs	C7orf58_uc003vjr.1_Frame_Shift_Del_p.T309fs|C7orf58_uc003vjs.4_Frame_Shift_Del_p.T309fs|C7orf58_uc003vjt.4_Frame_Shift_Del_p.T89fs|C7orf58_uc010lkk.2_Frame_Shift_Del_p.T89fs	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	309						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					AGCTGCAAACATTTTTTGAGA	0.398													-	120764394	T	-	120764394	7	5	158	1	0	1	0	1	0	0	0	0	2405	1493	52	0	954	0	C7orf58	7	120764394	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	848676	120764394	38374269	1211	84992											
PTPRZ1	5803	broad.mit.edu	37	chr7	121678929	121678929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcatgataacaaacctcGtggagaaaggaagggtatgt	12	5	1	2	rs150233853	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:121678929G>A	uc003vjy.2	+	19	5883	c.5488G>A	c.(5488-5490)GTG>ATG	p.V1830M	PTPRZ1_uc003vjz.2_Missense_Mutation_p.V963M|PTPRZ1_uc011knt.1_Missense_Mutation_p.V420M	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1830	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						AACAAACCTCGTGGAGAAAGG	0.373													A	121678929	G	A	121678929	3	1	158	1	0	0	0	0	1	0	0	0	12814	1145	40	1	5562	1	PTPRZ1	7	121678929	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	914535	121678929	37459734	1212	84993											
PTPRZ1	5803	broad.mit.edu	37	chr7	121684548	121684548	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaactgaggtgctggacagtCatattcatgcctatgttaat	9	7	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:121684548C>T	uc003vjy.2	+	23	6405	c.6010C>T	c.(6010-6012)CAT>TAT	p.H2004Y	PTPRZ1_uc003vjz.2_Missense_Mutation_p.H1137Y|PTPRZ1_uc011knt.1_Missense_Mutation_p.H594Y	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	2004	Cytoplasmic (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						GCTGGACAGTCATATTCATGC	0.428													T	121684548	C	T	121684548	3	4	158	1	0	0	0	0	1	0	0	0	12814	826	29	4	6100	4	PTPRZ1	7	121684548	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	5619	121684548	37454115	1213	84994											
CADPS2	93664	broad.mit.edu	37	chr7	122194638	122194638	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgctggtttatccattcGcactgccagtttgattttta	8	8	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:122194638G>A	uc010lkp.2	-	8	1604	c.1441C>T	c.(1441-1443)CGA>TGA	p.R481*	CADPS2_uc003vkg.3_Nonsense_Mutation_p.R181*|CADPS2_uc010lkq.2_Nonsense_Mutation_p.R481*	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	481					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						TTATCCATTCGCACTGCCAGT	0.338													A	122194638	G	A	122194638	4	1	158	1	0	0	0	0	0	1	0	0	2571	1095	38	1	2585	1	CADPS2	7	122194638	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	510090	122194638	36944025	1214	84995											
SND1	27044	broad.mit.edu	37	chr7	127361447	127361447	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accgaggctggagggggagaAcacccaggtgagaataggga	18	7	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:127361447A>G	uc003vmi.2	+	10	1371	c.1145A>G	c.(1144-1146)AAC>AGC	p.N382S	SND1_uc010lle.2_Missense_Mutation_p.N35S	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	382	TNase-like 3.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						GAGGGGGAGAACACCCAGGTG	0.458													G	127361447	A	G	127361447	3	3	158	1	0	0	0	0	1	0	0	0	14844	43	2	3	1183	3	SND1	7	127361447	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	5166809	127361447	31777216	1215	84996											
LRRC4	64101	broad.mit.edu	37	chr7	127670623	127670623	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatccacacttgcgccgtgAggtagacgaacgggagcagg	15	10	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:127670623A>G	uc003vmk.2	-	2	208	c.71T>C	c.(70-72)CTC>CCC	p.L24P	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	24						cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		TTGCGCCGTGAGGTAGACGAA	0.597													G	127670623	A	G	127670623	3	3	158	1	0	0	0	0	1	0	0	0	8997	304	11	3	1894	3	LRRC4	7	127670623	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	309176	127670623	31468040	1216	84997											
CCDC136	64753	broad.mit.edu	37	chr7	128447569	128447569	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaggcctcccaccccatTccggaggacaaaggaaagtg	10	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:128447569T>C	uc003vnv.1	+	10	1942	c.1575T>C	c.(1573-1575)ATT>ATC	p.I525I	CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Silent_p.I472I|CCDC136_uc003vnx.1_Silent_p.I341I|CCDC136_uc010llq.1_5'UTR|CCDC136_uc003vny.1_Silent_p.I135I	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	525						integral to membrane	protein binding			ovary(2)	2						CCCACCCCATTCCGGAGGACA	0.547													C	128447569	T	C	128447569	2	2	158	1	0	0	0	0	0	0	0	1	2770	1771	62	3		3	CCDC136	7	128447569	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	776946	128447569	30691094	1217	84998											
AHCYL2	23382	broad.mit.edu	37	chr7	129040190	129040190	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttttggtggtgtatcgatAgatgtgtgaatgtggagggc	16	3	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:129040190A>G	uc011kov.1	+	6	937	c.883A>G	c.(883-885)AGA>GGA	p.R295G	AHCYL2_uc003vot.2_Missense_Mutation_p.R294G|AHCYL2_uc003vov.2_Missense_Mutation_p.R192G|AHCYL2_uc011kow.1_Missense_Mutation_p.R193G|AHCYL2_uc011kox.1_Missense_Mutation_p.R192G	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	S-adenosylhomocysteine hydrolase-like 2 isoform	295					one-carbon metabolic process		adenosylhomocysteinase activity			ovary(2)	2						GTGTATCGATAGATGTGTGAA	0.463													G	129040190	A	G	129040190	3	3	158	1	0	0	0	0	1	0	0	0	411	412	15	3	1027	3	AHCYL2	7	129040190	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	592621	129040190	30098473	1218	84999											
CPA2	1358	broad.mit.edu	37	chr7	129919461	129919461	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagctgctgatgttccccTatgggtacaaatgtaccaag	9	12	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:129919461T>C	uc003vpq.2	+	9	965	c.946T>C	c.(946-948)TAT>CAT	p.Y316H		NM_001869	NP_001860	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic) precursor	316					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					GATGTTCCCCTATGGGTACAA	0.418													C	129919461	T	C	129919461	3	2	158	1	0	0	0	0	1	0	0	0	3790	1522	53	3	980	3	CPA2	7	129919461	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	879271	129919461	29219202	1219	85000											
PLXNA4	91584	broad.mit.edu	37	chr7	131825492	131825492	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaccacagagaggcaggcGtctgtgatgctgttcttatg	13	10	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:131825492G>A	uc003vra.3	-	30	5533	c.5304C>T	c.(5302-5304)GAC>GAT	p.D1768D	PLXNA4_uc003vqz.3_Silent_p.D53D	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1768	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						AGAGGCAGGCGTCTGTGATGC	0.557													A	131825492	G	A	131825492	2	1	158	1	0	0	0	0	0	0	0	1	12122	1136	40	1		1	PLXNA4	7	131825492	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1906031	131825492	27313171	1220	85001											
PLXNA4	91584	broad.mit.edu	37	chr7	131831420	131831420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcataggtgtccgtgagCggaggctgtcggggctgccc	17	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:131831420C>T	uc003vra.3	-	28	5133	c.4904G>A	c.(4903-4905)CGC>CAC	p.R1635H	PLXNA4_uc003vqz.3_5'Flank	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1635	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						TGTCCGTGAGCGGAGGCTGTC	0.587													T	131831420	C	T	131831420	3	4	158	1	0	0	0	0	1	0	0	0	12122	768	27	1	800	1	PLXNA4	7	131831420	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	5928	131831420	27307243	1221	85002											
TMEM140	55281	broad.mit.edu	37	chr7	134849303	134849303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcttctctgggaggctgGcaacctcactgacctgccca	10	16	3	1	rs144887157		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:134849303G>A	uc003vsi.2	+	2	391	c.110G>A	c.(109-111)GGC>GAC	p.G37D	C7orf49_uc003vsh.2_Intron	NM_018295	NP_060765	Q9NV12	TM140_HUMAN	transmembrane protein 140	37	Extracellular (Potential).					integral to membrane				large_intestine(1)	1						TGGGAGGCTGGCAACCTCACT	0.552													A	134849303	G	A	134849303	3	1	158	1	0	0	0	0	1	0	0	0	16052	1203	42	2	112	2	TMEM140	7	134849303	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3017883	134849303	24289360	1222	85003											
CNOT4	4850	broad.mit.edu	37	chr7	135047842	135047842	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgatggagcagcgctggggCcgtccatctctgtgagggcc	17	11	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:135047842C>A	uc011kpy.1	-	11	2029	c.1937G>T	c.(1936-1938)GGC>GTC	p.G646V	CNOT4_uc003vss.2_Missense_Mutation_p.G572V|CNOT4_uc011kpz.1_Missense_Mutation_p.G643V|CNOT4_uc003vst.2_Missense_Mutation_p.G575V	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding				0						AGCGCTGGGGCCGTCCATCTC	0.547													A	135047842	C	A	135047842	3	1	158	1	0	0	0	0	1	0	0	0	3621	739	26	5	208	5	CNOT4	7	135047842	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	198539	135047842	24090821	1223	85004											
NUP205	23165	broad.mit.edu	37	chr7	135258404	135258404	+	Splice_Site	DEL	A	A	-													acaattttatcattgtagccAaaaaatgttcaacagcatga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:135258403_135258403CA>C	uc003vsw.3	+	3	203	c.172_splice	c.e3-1	p.P58_splice	NUP205_uc011kqa.1_Splice_Site	NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	58					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TCATTGTAGCCAAAAAATGTT	0.413													-	135258404	A	-	135258404	8	5	158	1	0	1	0	1	0	0	1	0	10759	117	5	0	184	0	NUP205	7	135258404	Splice_Site	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	210562	135258404	23880259	1224	85005											
CHRM2	1129	broad.mit.edu	37	chr7	136700150	136700150	+	Frame_Shift_Del	DEL	T	T	-													atggggagtgctacattcagTttttttccaatgctgctgtc					rs150934226		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:136700149_136700149GT>G	uc003vtf.1	+	3	1160	c.537_537GT>G	c.(535-537)cagfs	p.Q179fs	CHRM2_uc003vtg.1_Frame_Shift_Del_p.Q179fs|CHRM2_uc003vti.1_Frame_Shift_Del_p.Q179fs|CHRM2_uc003vtm.1_Frame_Shift_Del_p.Q179fs|CHRM2_uc003vtj.1_Frame_Shift_Del_p.Q179fs|CHRM2_uc003vtk.1_Frame_Shift_Del_p.Q179fs|CHRM2_uc003vtl.1_Frame_Shift_Del_p.Q179fs|CHRM2_uc003vtn.1_Frame_Shift_Del_p.Q179fs|CHRM2_uc003vto.1_Frame_Shift_Del_p.Q179fs|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Frame_Shift_Del_p.Q179fs	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	179					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GCTACATTCAGTTTTTTTCCA	0.498													-	136700150	T	-	136700150	7	5	158	1	0	1	0	1	0	0	0	0	3377	1725	60	0	540	0	CHRM2	7	136700150	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	1441746	136700150	22438513	1225	85006											
PTN	5764	broad.mit.edu	37	chr7	136936035	136936035	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatggtgacagtcttctgGcattcggcattgtgcagggc	15	8	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:136936035G>A	uc003vtq.2	-	4	756	c.393C>T	c.(391-393)TGC>TGT	p.C131C	PTN_uc010lmx.2_Silent_p.C131C|PTN_uc003vtr.1_Silent_p.C131C	NM_002825	NP_002816	P21246	PTN_HUMAN	pleiotrophin	131					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			upper_aerodigestive_tract(1)|pancreas(1)	2						CAGTCTTCTGGCATTCGGCAT	0.502													A	136936035	G	A	136936035	2	1	158	1	0	0	0	0	0	0	0	1	12768	1195	42	2		2	PTN	7	136936035	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	235885	136936035	22202628	1226	85007											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138417780	138417780	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggtatccaaacagacacaGgataaaaatcatctcaggga	8	9	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:138417780G>T	uc003vuf.2	-	16	1988	c.1750C>A	c.(1750-1752)CTG>ATG	p.L584M	ATP6V0A4_uc003vug.2_Missense_Mutation_p.L584M|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.L584M	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	584	Helical; (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1						AACAGACACAGGATAAAAATC	0.423													T	138417780	G	T	138417780	3	4	158	1	0	0	0	0	1	0	0	0	1170	991	35	5	796	5	ATP6V0A4	7	138417780	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1481745	138417780	20720883	1227	85008											
UBN2	254048	broad.mit.edu	37	chr7	138946364	138946364	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagccccctatctgagtcGgggggtgaaaatggaaccac	14	10	1	2	rs150369714	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:138946364G>A	uc011kqr.1	+	6	1272	c.1272G>A	c.(1270-1272)TCG>TCA	p.S424S	UBN2_uc003vuv.2_Silent_p.S147S	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	424										ovary(1)|skin(1)	2						TATCTGAGTCGGGGGGTGAAA	0.488													A	138946364	G	A	138946364	2	1	158	1	0	0	0	0	0	0	0	1	16890	1103	39	1		1	UBN2	7	138946364	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	528584	138946364	20192299	1228	85009											
UBN2	254048	broad.mit.edu	37	chr7	138968106	138968107	+	Frame_Shift_Ins	INS	-	-	A													gctgccactagctactcccaINSaaaaactagattctactcag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:138968105_138968106C>CA	uc011kqr.2	+	14	2454_2455	c.2454_2455C>CA	c.(2452-2457)cccaaafs	p.P818fs		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	818										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TAGCTACTCCCAAAAAACTAGA	0.446													A	138968107	-	A	138968106	7	5	158	1	0	1	1	0	0	0	0	0	16890	131	5	0	2513	0	UBN2	7	138968106	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	21742	138968106	20170557	1229	85010											
KLRG2	346689	broad.mit.edu	37	chr7	139168372	139168372	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggcctccgggcgcagccTcccaagactcctccatcccg	9	20	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:139168372T>C	uc003vvb.2	-	1	86	c.17A>G	c.(16-18)GAG>GGG	p.E6G	KLRG2_uc010lnc.2_Missense_Mutation_p.E6G	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G,	6						integral to membrane	sugar binding			central_nervous_system(1)	1	Melanoma(164;0.233)					GGGCGCAGCCTCCCAAGACTC	0.721													C	139168372	T	C	139168372	3	2	158	1	0	0	0	0	1	0	0	0	8422	1551	54	3	1232	3	KLRG2	7	139168372	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	200266	139168372	19970291	1230	85011											
JHDM1D	80853	broad.mit.edu	37	chr7	139798732	139798732	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccctctactcctgaactcTcttctatcttcatttttgcc	2	16	5	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:139798732T>C	uc003vvm.2	-	14	1869	c.1865A>G	c.(1864-1866)GAG>GGG	p.E622G	JHDM1D_uc010lng.2_RNA	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	622					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)					TCCTGAACTCTCTTCTATCTT	0.338													C	139798732	T	C	139798732	3	2	158	1	0	0	0	0	1	0	0	0	7948	1551	54	3	988	3	JHDM1D	7	139798732	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	630360	139798732	19339931	1231	85012											
JHDM1D	80853	broad.mit.edu	37	chr7	139829334	139829334	+	Missense_Mutation	SNP	G	G	T													tcacagaaaatgtaggtgaaGggagcctgagtcctagatca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:139829334G>T	uc003vvm.2	-	4	522	c.518C>A	c.(517-519)CCT>CAT	p.P173H		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	173					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)					TGTAGGTGAAGGGAGCCTGAG	0.393													T	139829334	G	T	139829334	3	4	158	1	0	0	0	0	1	0	0	0	7948	1000	35	5	2375	5	JHDM1D	7	139829334	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	30602	139829334	19309329	1232	85013	424	2									
JHDM1D	80853	broad.mit.edu	37	chr7	139829343	139829343	+	Missense_Mutation	SNP	A	A	C													atgtaggtgaagggagcctgAgtcctagatcatctaatttt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:139829343A>C	uc003vvm.2	-	4	513	c.509T>G	c.(508-510)CTC>CGC	p.L170R		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	170					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)					AGGGAGCCTGAGTCCTAGATC	0.378													C	139829343	A	C	139829343	3	2	158	1	0	0	0	0	1	0	0	0	7948	304	11	5	2384	5	JHDM1D	7	139829343	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	9	139829343	19309320	1233	85014	424	2									
DENND2A	27147	broad.mit.edu	37	chr7	140273781	140273781	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctctctgaattttgtcGgaaaaaagcaggtttggaca	9	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:140273781G>A	uc010lnj.2	-	4	1418	c.1273C>T	c.(1273-1275)CGA>TGA	p.R425*	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Nonsense_Mutation_p.R425*|DENND2A_uc003vvw.2_Nonsense_Mutation_p.R425*|DENND2A_uc003vvx.2_Nonsense_Mutation_p.R425*	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	425										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					GAATTTTGTCGGAAAAAAGCA	0.493													A	140273781	G	A	140273781	4	1	158	1	0	0	0	0	0	1	0	0	4429	1124	39	1	1816	1	DENND2A	7	140273781	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	444438	140273781	18864882	1234	85015											
MGAM	8972	broad.mit.edu	37	chr7	141736642	141736642	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaccaggatcctgcctcctTtggagctgactccctgctgt	11	14	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:141736642T>C	uc003vwy.2	+	18	2150	c.2096T>C	c.(2095-2097)TTT>TCT	p.F699S		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	699	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTGCCTCCTTTGGAGCTGAC	0.507													C	141736642	T	C	141736642	3	2	158	1	0	0	0	0	1	0	0	0	9541	1841	64	3	2162	3	MGAM	7	141736642	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1462861	141736642	17402021	1235	85016											
EPHB6	2051	broad.mit.edu	37	chr7	142561448	142561448	+	Frame_Shift_Del	DEL	G	G	-													gctggctcacctacccaccaGggggggtgagtgccactcta							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:142561447_142561447AG>A	uc011kst.2	+	5	946	c.159_159AG>A	c.(157-159)ccafs	p.P53fs	EPHB6_uc011ksu.2_Frame_Shift_Del_p.P53fs|EPHB6_uc003wbs.3_Intron|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Intron	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	53						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCTACCCACCAGGGGGGGTGA	0.577													-	142561448	G	-	142561448	7	5	158	1	0	1	0	1	0	0	0	0	5178	1000	35	0	166	0	EPHB6	7	142561448	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	824806	142561448	16577215	1236	85017											
EPHB6	2051	broad.mit.edu	37	chr7	142561975	142561975	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcaggctgaggagcccgaCagccctgacagcgtttcctc	12	15	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:142561975C>T	uc011kst.1	+	7	1204	c.417C>T	c.(415-417)GAC>GAT	p.D139D	EPHB6_uc011ksu.1_Silent_p.D139D|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	139	Extracellular (Potential).					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.K139N(1)		lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					AGGAGCCCGACAGCCCTGACA	0.542													T	142561975	C	T	142561975	2	4	158	1	0	0	0	0	0	0	0	1	5178	477	17	4		4	EPHB6	7	142561975	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	527	142561975	16576688	1237	85018											
EPHB6	2051	broad.mit.edu	37	chr7	142564248	142564248	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactctagtgccctctgctgTccctgtggtgcaccaggtga	11	14	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:142564248T>C	uc011kst.1	+	10	2259	c.1472T>C	c.(1471-1473)GTC>GCC	p.V491A	EPHB6_uc011ksu.1_Missense_Mutation_p.V491A|EPHB6_uc003wbs.2_Missense_Mutation_p.V199A|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_Missense_Mutation_p.V199A|EPHB6_uc003wbv.2_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	491	Fibronectin type-III 2.|Extracellular (Potential).					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					CCCTCTGCTGTCCCTGTGGTG	0.607													C	142564248	T	C	142564248	3	2	158	1	0	0	0	0	1	0	0	0	5178	1667	58	3	1494	3	EPHB6	7	142564248	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	2273	142564248	16574415	1238	85019											
KEL	3792	broad.mit.edu	37	chr7	142658034	142658034	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccagtattctccgaagtcgGtttttgttctttgtggcaag	10	9	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:142658034G>T	uc003wcb.2	-	4	591	c.381C>A	c.(379-381)AAC>AAA	p.N127K		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	127	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)					TCCGAAGTCGGTTTTTGTTCT	0.502													T	142658034	G	T	142658034	3	4	158	1	0	0	0	0	1	0	0	0	8142	1252	44	5	1881	5	KEL	7	142658034	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	93786	142658034	16480629	1239	85020											
OR2A2	442361	broad.mit.edu	37	chr7	143807556	143807556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctacagcctgaggaatgCtcagttgaagggcgccctcc	12	12	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:143807556C>T	uc011ktz.1	+	1	881	c.881C>T	c.(880-882)GCT>GTT	p.A294V		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	294	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.0783)					CTGAGGAATGCTCAGTTGAAG	0.498													T	143807556	C	T	143807556	3	4	158	1	0	0	0	0	1	0	0	0	10977	797	28	2	883	2	OR2A2	7	143807556	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1149522	143807556	15331107	1240	85021											
ZNF398	57541	broad.mit.edu	37	chr7	148876528	148876528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcagtaagagcttcatgCgcaaggagcacctgctgaac	11	11	1	2	rs112460455		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:148876528C>T	uc003wfl.2	+	6	1839	c.1564C>T	c.(1564-1566)CGC>TGC	p.R522C	ZNF398_uc011kul.1_Missense_Mutation_p.R351C|ZNF398_uc011kum.1_Missense_Mutation_p.R527C	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	zinc finger 398 isoform a	522	C2H2-type 7.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GAGCTTCATGCGCAAGGAGCA	0.597													T	148876528	C	T	148876528	3	4	158	1	0	0	0	0	1	0	0	0	17882	768	27	1	1586	1	ZNF398	7	148876528	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	5068972	148876528	10262135	1241	85022											
ZNF746	155061	broad.mit.edu	37	chr7	149191461	149191461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggttcccgaactccacgGctgtcttctcgcaatcagcc	9	16	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:149191461G>A	uc003wfw.2	-	2	429	c.158C>T	c.(157-159)GCC>GTC	p.A53V	ZNF746_uc010lpi.2_Missense_Mutation_p.A53V	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 2	53	Potential.				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|breast(1)	3	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAACTCCACGGCTGTCTTCTC	0.622													A	149191461	G	A	149191461	3	1	158	1	0	0	0	0	1	0	0	0	18126	1203	42	2	1803	2	ZNF746	7	149191461	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	314933	149191461	9947202	1242	85023											
GIMAP1	170575	broad.mit.edu	37	chr7	150416146	150416146	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtaagcatgggaggaaGgaagatggcgacagatgaag	17	5	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:150416146G>T	uc003whq.2	+	2	98	c.11G>T	c.(10-12)AGG>ATG	p.R4M	GIMAP1_uc003whp.2_Missense_Mutation_p.R12M	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	4	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGGGAGGAAGGAAGATGGCG	0.383													T	150416146	G	T	150416146	3	4	158	1	0	0	0	0	1	0	0	0	6379	1000	35	5	13	5	GIMAP1	7	150416146	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1224685	150416146	8722517	1243	85024											
GIMAP1	170575	broad.mit.edu	37	chr7	150417152	150417152	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggtttagaagagaacgcTcagtcccggcaggagtccac	12	11	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:150417152T>C	uc003whq.2	+	3	147	c.60T>C	c.(58-60)GCT>GCC	p.A20A	GIMAP1_uc003whp.2_Silent_p.A28A	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	20	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGAGAACGCTCAGTCCCGGC	0.522													C	150417152	T	C	150417152	2	2	158	1	0	0	0	0	0	0	0	1	6379	1538	54	3		3	GIMAP1	7	150417152	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1006	150417152	8721511	1244	85025											
ABCB8	11194	broad.mit.edu	37	chr7	150730732	150730732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctccctcctccgggccGtggcccacctgcggtcccag	11	21	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:150730732G>A	uc003wil.3	+	3	280	c.187G>A	c.(187-189)GTG>ATG	p.V63M	ABCB8_uc003wii.2_Missense_Mutation_p.V83M|ABCB8_uc003wij.3_Missense_Mutation_p.V46M|ABCB8_uc010lpw.1_Intron|ABCB8_uc010lpx.2_Missense_Mutation_p.V46M|ABCB8_uc011kvd.1_Intron|ABCB8_uc003wim.3_Intron|ABCB8_uc003wik.3_Missense_Mutation_p.V46M	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	63						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCCGGGCCGTGGCCCACCT	0.677													A	150730732	G	A	150730732	3	1	158	1	0	0	0	0	1	0	0	0	47	1145	40	1	142	1	ABCB8	7	150730732	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	313580	150730732	8407931	1245	85026											
ABCB8	11194	broad.mit.edu	37	chr7	150742338	150742338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaaaggcgggctatacGccgagctcatccggaggcag	15	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:150742338G>A	uc003wil.3	+	17	2203	c.2110G>A	c.(2110-2112)GCC>ACC	p.A704T	ABCB8_uc010lpx.2_Missense_Mutation_p.A662T|ABCB8_uc011kvd.1_Missense_Mutation_p.A599T|ABCB8_uc003wim.3_Missense_Mutation_p.A482T|ABCB8_uc003wik.3_Missense_Mutation_p.A687T	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	704	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGGCTATACGCCGAGCTCAT	0.632													A	150742338	G	A	150742338	3	1	158	1	0	0	0	0	1	0	0	0	47	1087	38	1	2121	1	ABCB8	7	150742338	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	11606	150742338	8396325	1246	85027											
CDK5	1020	broad.mit.edu	37	chr7	150754240	150754240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggccttgaacacagttccGtaggtgcctaggggaaggag	15	8	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:150754240G>A	uc003wir.1	-	2	106	c.45C>T	c.(43-45)TAC>TAT	p.Y15Y	CDK5_uc003wis.1_Silent_p.Y15Y|SLC4A2_uc003wit.3_5'Flank	NM_004935	NP_004926	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5 isoform 1	15	ATP (By similarity).|Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			lung(1)|central_nervous_system(1)	2		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		ACACAGTTCCGTAGGTGCCTA	0.577													A	150754240	G	A	150754240	2	1	158	1	0	0	0	0	0	0	0	1	3142	1140	40	1		1	CDK5	7	150754240	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	11902	150754240	8384423	1247	85028											
CHPF2	54480	broad.mit.edu	37	chr7	150935685	150935685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaactctaccaccgctgccGcctcagcaacctggaggggc	11	16	2	1	rs138308089		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:150935685G>A	uc003wjr.1	+	4	3750	c.2237G>A	c.(2236-2238)CGC>CAC	p.R746H	CHPF2_uc003wjq.1_Missense_Mutation_p.R738H	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	746	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1						CACCGCTGCCGCCTCAGCAAC	0.647													A	150935685	G	A	150935685	3	1	158	1	0	0	0	0	1	0	0	0	3369	1087	38	1	2251	1	CHPF2	7	150935685	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	181445	150935685	8202978	1248	85029											
NUB1	51667	broad.mit.edu	37	chr7	151053255	151053255	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagaaatgacaccgtacttaGacatagctaaccagacaggc	8	11	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:151053255G>C	uc003wjx.2	+	7	717	c.712G>C	c.(712-714)GAC>CAC	p.D238H	NUB1_uc003wjv.2_RNA|NUB1_uc003wjw.2_Missense_Mutation_p.D214H|NUB1_uc010lqb.2_RNA|NUB1_uc003wjy.2_RNA|NUB1_uc011kvj.1_Intron|NUB1_uc010lqc.2_RNA	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	214					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ACCGTACTTAGACATAGCTAA	0.408													C	151053255	G	C	151053255	3	2	158	1	0	0	0	0	1	0	0	0	10714	942	33	5	662	5	NUB1	7	151053255	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	117570	151053255	8085408	1249	85030											
MLL3	58508	broad.mit.edu	37	chr7	151836879	151836879	+	Splice_Site	DEL	A	A	-													agcatacaggcccagcccctAaaaaaaagtgtgtacatact							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:151836878_151836878TA>T	uc003wla.3	-	56	14563	c.14344_splice	c.e56-1	p.G4782_splice	MLL3_uc003wkz.3_Splice_Site_p.G3896_splice|MLL3_uc003wkx.3_Splice_Site_p.G940_splice|MLL3_uc003wky.3_Splice_Site_p.G2342_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4782	SET.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCCCAGCCCCTAAAAAAAAGT	0.413			N		medulloblastoma								-	151836879	A	-	151836879	8	5	158	1	0	1	0	1	0	0	1	0	9622	377	13	0		0	MLL3	7	151836879	Splice_Site	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	783624	151836879	7301784	1250	85031											
MLL3	58508	broad.mit.edu	37	chr7	151891169	151891169	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggctgagtgttcgcaggacTaagtacagctgtaaataagt	12	6	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:151891169T>A	uc003wla.2	-	31	4804	c.4585A>T	c.(4585-4587)AGT>TGT	p.S1529C	MLL3_uc003wkz.2_Missense_Mutation_p.S590C	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1529					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTCGCAGGACTAAGTACAGCT	0.413			N		medulloblastoma								A	151891169	T	A	151891169	3	1	158	1	0	0	0	0	1	0	0	0	9622	1522	53	5	10266	5	MLL3	7	151891169	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	54290	151891169	7247494	1251	85032											
SHH	6469	broad.mit.edu	37	chr7	155595711	155595711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcggtggcccccgcaccCggagcgtcggcagcacctgg	15	19	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:155595711C>T	uc003wmk.1	-	3	1423	c.1272G>A	c.(1270-1272)CCG>CCA	p.P424P	SHH_uc003wmh.1_Intron|SHH_uc003wmi.1_Intron|SHH_uc003wmj.1_Silent_p.P337P	NM_000193	NP_000184	Q15465	SHH_HUMAN	sonic hedgehog preproprotein	424			P -> A (in HPE3; familial).		androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|lung(1)	4	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCCGCACCCGGAGCGTCGG	0.552													T	155595711	C	T	155595711	2	4	158	1	0	0	0	0	0	0	0	1	14279	639	23	1		1	SHH	7	155595711	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	3704542	155595711	3542952	1252	85033											
UBE3C	9690	broad.mit.edu	37	chr7	157046698	157046698	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccctgtcaccagcgccaaCcggattgcgtacatccactt	7	16	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:157046698C>T	uc010lqs.2	+	20	3057	c.2745C>T	c.(2743-2745)AAC>AAT	p.N915N	UBE3C_uc003wni.3_Silent_p.N278N	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	915	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(2)|large_intestine(1)	5		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CCAGCGCCAACCGGATTGCGT	0.512													T	157046698	C	T	157046698	2	4	158	1	0	0	0	0	0	0	0	1	16878	506	18	4		4	UBE3C	7	157046698	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1450987	157046698	2091965	1253	85034											
WDR60	55112	broad.mit.edu	37	chr7	158695164	158695164	+	Frame_Shift_Del	DEL	A	A	-													ggaagaacttcctctagctcAaaaaaaggaaatacaagaaa							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:158695163_158695163CA>C	uc003woe.4	+	9	1392	c.1234_1234CA>C	c.(1234-1236)caafs	p.Q412fs	WDR60_uc010lqv.3_Non-coding_Transcript|WDR60_uc010lqw.3_5'UTR	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	412										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TCCTCTAGCTCAAAAAAAGGA	0.373													-	158695164	A	-	158695164	7	5	158	1	0	1	0	1	0	0	0	0	17308	130	5	0	1273	0	WDR60	7	158695164	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	1648466	158695164	443499	1254	85035											
CSMD1	64478	broad.mit.edu	37	chr8	3046483	3046483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtatggctcagggtagcCgggggacaggattgtacctc	15	10	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:3046483C>T	uc011kwk.1	-	35	5842	c.5452G>A	c.(5452-5454)GGC>AGC	p.G1818S	CSMD1_uc011kwj.1_Missense_Mutation_p.G1210S|CSMD1_uc003wqe.2_Missense_Mutation_p.G974S|CSMD1_uc010lrg.2_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1818	Extracellular (Potential).|CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCAGGGTAGCCGGGGGACAGG	0.468													T	3046483	C	T	3046483	3	4	158	1	0	0	0	0	1	0	0	0	3944	652	23	1	5389	1	CSMD1	8	3046483	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08		3046483	143317539	1255	85036											
AGPAT5	55326	broad.mit.edu	37	chr8	6588288	6588288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatgcgctaggacatgtgCgctacgtgctgaaagaaggg	15	7	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:6588288C>T	uc003wqo.2	+	3	658	c.346C>T	c.(346-348)CGC>TGC	p.R116C	AGPAT5_uc011kwm.1_Intron	NM_018361	NP_060831	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	116					phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity				0			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		AGGACATGTGCGCTACGTGCT	0.463													T	6588288	C	T	6588288	3	4	158	1	0	0	0	0	1	0	0	0	390	768	27	1	356	1	AGPAT5	8	6588288	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	3541805	6588288	139775734	1256	85037											
DEFB1	1672	broad.mit.edu	37	chr8	6735366	6735366	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagagtaaacagcagaaggTaggaagttctcatggcgact	13	6	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:6735366T>C	uc003wqs.2	-	1	164	c.14A>G	c.(13-15)TAC>TGC	p.Y5C		NM_005218	NP_005209	P60022	DEFB1_HUMAN	defensin, beta 1 preproprotein	5					chemotaxis|defense response to bacterium|G-protein coupled receptor protein signaling pathway|innate immune response	extracellular region					0			STAD - Stomach adenocarcinoma(24;0.0984)	COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.128)		CAGCAGAAGGTAGGAAGTTCT	0.557													C	6735366	T	C	6735366	3	2	158	1	0	0	0	0	1	0	0	0	4394	1638	57	3	200	3	DEFB1	8	6735366	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	147078	6735366	139628656	1257	85038											
PPP1R3B	79660	broad.mit.edu	37	chr8	8998980	8998980	+	Frame_Shift_Del	DEL	T	T	-													tgtctgcgaaggacacccgcTttttcaccttcttctcctgg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:8998979_8998979CT>C	uc022arp.1	-	0	183	c.183_183AG>G	c.(181-183)aagfs	p.K61fs	PPP1R3B_uc003wsn.4_Frame_Shift_Del_p.K61fs|PPP1R3B_uc003wso.4_Frame_Shift_Del_p.K61fs	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA.	61					glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		AGGACACCCGCTTTTTCACCT	0.542													-	8998980	T	-	8998980	7	5	158	1	0	1	0	1	0	0	0	0	12372	1609	56	0	679	0	PPP1R3B	8	8998980	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	2263614	8998980	137365042	1258	85039											
MSRA	4482	broad.mit.edu	37	chr8	10285672	10285672	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaggttctttcagagcaCggcttcggccccatcactac	8	16	3	1	rs139382033		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:10285672C>T	uc003wsx.2	+	6	755	c.558C>T	c.(556-558)CAC>CAT	p.H186H	MSRA_uc011kwx.1_Silent_p.H146H|MSRA_uc003wsz.2_Silent_p.H143H|MSRA_uc003wsy.2_Silent_p.H120H	NM_012331	NP_036463	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A isoform a	186					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity				0		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	TTTCAGAGCACGGCTTCGGCC	0.592													T	10285672	C	T	10285672	2	4	158	1	0	0	0	0	0	0	0	1	9887	535	19	1		1	MSRA	8	10285672	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1286692	10285672	136078350	1259	85040											
RP1L1	94137	broad.mit.edu	37	chr8	10466703	10466703	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgctgagggctggctcGtcctccagggtgaaggagag	18	9	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:10466703G>A	uc003wtc.2	-	4	5134	c.4905C>T	c.(4903-4905)GAC>GAT	p.D1635D		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1635					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GGGCTGGCTCGTCCTCCAGGG	0.692													A	10466703	G	A	10466703	2	1	158	1	0	0	0	0	0	0	0	1	13533	1136	40	1		1	RP1L1	8	10466703	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	181031	10466703	135897319	1260	85041											
RP1L1	94137	broad.mit.edu	37	chr8	10470350	10470351	+	Frame_Shift_Del	DEL	CT	CT	-													ccacctcttccgagctgccaCtctctctccctgggaggcat							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:10470349_10470350ACT>A	uc003wtc.3	-	3	1487_1488	c.1258_1259AGT>T	c.(1258-1260)gtgfs	p.V420fs		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	420					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCGAGCTGCCACTCTCTCTCCC	0.663													-	10470351	CT	-	10470350	7	5	158	1	0	1	0	1	0	0	0	0	13533	565	20	0	5948	0	RP1L1	8	10470350	Frame_Shift_Del	DEL	CT	TCGA-CD-A4MG-01A-11D-A25D-08	3647	10470350	135893672	1261	85042											
FDFT1	2222	broad.mit.edu	37	chr8	11667360	11667360	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggaggacttcccaacgGtgagtggggttacgcatctt	14	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:11667360G>A	uc003wui.2	+	3	533	c.381_splice	c.e3+1	p.T127_splice	FDFT1_uc003wuh.2_Splice_Site_p.T63_splice|FDFT1_uc010lsa.1_Splice_Site_p.T42_splice|FDFT1_uc011kxe.1_Splice_Site_p.T63_splice|FDFT1_uc011kxf.1_Splice_Site_p.T127_splice|FDFT1_uc011kxg.1_Intron|FDFT1_uc003wuj.2_Splice_Site_p.T120_splice|FDFT1_uc010lsb.2_Splice_Site_p.T63_splice|FDFT1_uc011kxh.1_Splice_Site_p.T63_splice|FDFT1_uc011kxi.1_Splice_Site|FDFT1_uc011kxj.1_Splice_Site_p.T63_splice|FDFT1_uc003wuk.2_Splice_Site_p.T186_splice|FDFT1_uc011kxk.1_Splice_Site_p.T42_splice	NM_004462	NP_004453	P37268	FDFT_HUMAN	squalene synthase						cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity				0	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CTTCCCAACGGTGAGTGGGGT	0.498													A	11667360	G	A	11667360	5	1	158	1	0	0	0	0	0	0	1	0	5802	1275	44	4	392	4	FDFT1	8	11667360	Splice_Site	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1197010	11667360	134696662	1262	85043											
FDFT1	2222	broad.mit.edu	37	chr8	11689081	11689081	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataaccagcaggtgttcaaaGgggcagtgaagattcggaaa	13	6	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:11689081G>T	uc003wui.2	+	7	1086	c.934G>T	c.(934-936)GGG>TGG	p.G312W	FDFT1_uc003wuh.2_Missense_Mutation_p.G248W|FDFT1_uc010lsa.1_Missense_Mutation_p.G227W|FDFT1_uc011kxe.1_Missense_Mutation_p.G248W|FDFT1_uc011kxf.1_Missense_Mutation_p.G269W|FDFT1_uc011kxg.1_Missense_Mutation_p.G145W|FDFT1_uc003wuj.2_Missense_Mutation_p.G305W|FDFT1_uc010lsb.2_Missense_Mutation_p.G248W|FDFT1_uc011kxh.1_Missense_Mutation_p.G248W|FDFT1_uc011kxi.1_RNA|FDFT1_uc011kxj.1_Missense_Mutation_p.G248W|FDFT1_uc003wuk.2_Missense_Mutation_p.G371W|FDFT1_uc011kxk.1_Missense_Mutation_p.G227W	NM_004462	NP_004453	P37268	FDFT_HUMAN	squalene synthase	312					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity				0	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		GGTGTTCAAAGGGGCAGTGAA	0.453													T	11689081	G	T	11689081	3	4	158	1	0	0	0	0	1	0	0	0	5802	1000	35	5	960	5	FDFT1	8	11689081	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	21721	11689081	134674941	1263	85044											
MTMR7	9108	broad.mit.edu	37	chr8	17159785	17159785	+	Frame_Shift_Del	DEL	A	A	-													gcggttatacattccactccAaaacctggaaaggatggcaa							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:17159784_17159784CA>C	uc003wxm.3	-	12	1738	c.1499_1499TG>G	c.(1498-1500)tggfs	p.W500fs	MTMR7_uc003wxn.3_Frame_Shift_Del_p.W279fs|MTMR7_uc011kya.2_Frame_Shift_Del_p.W134fs|MTMR7_uc011kyb.2_Frame_Shift_Del_p.W91fs	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	500	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CATTCCACTCCAAAACCTGGA	0.443													-	17159785	A	-	17159785	7	5	158	1	0	1	0	1	0	0	0	0	9948	130	5	0	492	0	MTMR7	8	17159785	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	5470704	17159785	129204237	1264	85045											
PDGFRL	5157	broad.mit.edu	37	chr8	17486274	17486274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatctccgtcaagtaccagCtgctctatgtggcgggtaag	12	10	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:17486274C>T	uc003wxr.2	+	4	845	c.784C>T	c.(784-786)CTG>TTG	p.L262L		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	262						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity				0				Colorectal(111;0.0752)		CAAGTACCAGCTGCTCTATGT	0.572													T	17486274	C	T	17486274	2	4	158	1	0	0	0	0	0	0	0	1	11663	796	28	2		2	PDGFRL	8	17486274	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	326489	17486274	128877748	1265	85046											
NAT2	10	broad.mit.edu	37	chr8	18258079	18258079	+	Frame_Shift_Del	DEL	T	T	-													aaagaagaaacaccaaaaaaTatacttatttacgcttgaac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:18258078_18258078AT>A	uc022asl.1	+	0	565	c.565_565AT>A	c.(565-567)atafs	p.I189fs	NAT2_uc003wyw.1_Frame_Shift_Del_p.I189fs	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	189					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		ACACCAAAAAATATACTTATT	0.358									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				-	18258079	T	-	18258079	7	5	158	1	0	1	0	1	0	0	0	0	10177	1406	49	0	568	0	NAT2	8	18258079	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	771805	18258079	128105943	1266	85047											
PSD3	23362	broad.mit.edu	37	chr8	18430057	18430057	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgagacagttttgttgtaGtggcaggcagaagtgggcgg	17	6	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:18430057G>C	uc003wza.2	-	14	2868	c.2765C>G	c.(2764-2766)ACT>AGT	p.T922S	PSD3_uc003wyx.3_Missense_Mutation_p.T251S|PSD3_uc003wyy.2_Missense_Mutation_p.T388S|PSD3_uc003wyz.2_Missense_Mutation_p.T223S	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	923	Potential.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTTTGTTGTAGTGGCAGGCAG	0.393													C	18430057	G	C	18430057	3	2	158	1	0	0	0	0	1	0	0	0	12648	1029	36	5	390	5	PSD3	8	18430057	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	171978	18430057	127933965	1267	85048											
PSD3	23362	broad.mit.edu	37	chr8	18729717	18729717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtgtctccagttaacagCgcggtgagatctttctggat	12	8	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:18729717C>T	uc003wza.2	-	3	760	c.657G>A	c.(655-657)GCG>GCA	p.A219A		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	219					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CAGTTAACAGCGCGGTGAGAT	0.473													T	18729717	C	T	18729717	2	4	158	1	0	0	0	0	0	0	0	1	12648	755	27	1		1	PSD3	8	18729717	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	299660	18729717	127634305	1268	85049											
SLC18A1	6570	broad.mit.edu	37	chr8	20004788	20004788	+	Frame_Shift_Del	DEL	G	G	-													caagcttctcttcctttgccGgggggctccgcaggtagtag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:20004787_20004787CG>C	uc011kyq.2	-	15	1917	c.1446_1446CG>G	c.(1444-1446)ccgfs	p.P482fs	SLC18A1_uc003wzm.3_Frame_Shift_Del_p.P482fs|SLC18A1_uc011kyr.2_Intron|SLC18A1_uc003wzn.3_Frame_Shift_Del_p.P450fs|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	482					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CTTCCTTTGCCGGGGGGCTCC	0.498													-	20004788	G	-	20004788	7	5	158	1	0	1	0	1	0	0	0	0	14425	1116	39	0	140	0	SLC18A1	8	20004788	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	1275071	20004788	126359234	1269	85050											
HR	55806	broad.mit.edu	37	chr8	21978604	21978604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggccggagtgacgggggCgaaggccatgtgtattcgct	18	9	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:21978604C>T	uc003xas.2	-	10	3006	c.2341G>A	c.(2341-2343)GCC>ACC	p.A781T	HR_uc003xat.2_Missense_Mutation_p.A781T	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	781							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTGACGGGGGCGAAGGCCATG	0.672													T	21978604	C	T	21978604	3	4	158	1	0	0	0	0	1	0	0	0	7347	768	27	1	1268	1	HR	8	21978604	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1973816	21978604	124385418	1270	85051											
KIAA1967	57805	broad.mit.edu	37	chr8	22476440	22476440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaatggcagcctgattaaCgtggggagcctgctgcagcg	14	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:22476440C>T	uc003xch.2	+	19	2570	c.2433C>T	c.(2431-2433)AAC>AAT	p.N811N	KIAA1967_uc003xci.2_Silent_p.N811N|KIAA1967_uc003xcj.1_Silent_p.N480N	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	811					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GCCTGATTAACGTGGGGAGCC	0.622													T	22476440	C	T	22476440	2	4	158	1	0	0	0	0	0	0	0	1	8265	535	19	1		1	KIAA1967	8	22476440	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	497836	22476440	123887582	1271	85052											
RHOBTB2	23221	broad.mit.edu	37	chr8	22864673	22864674	+	Frame_Shift_Ins	INS	-	-	G													acctgagtgagggggagctgINSgggggcccctcggagccagg					rs139255771		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:22864672_22864673T>TG	uc003xcp.2	+	6	1263_1264	c.980_981T>TG	c.(979-981)ctgfs	p.L327fs	RHOBTB2_uc011kzp.1_Frame_Shift_Ins_p.L312fs|RHOBTB2_uc003xcq.2_Frame_Shift_Ins_p.L305fs|BC043400_uc003xcr.3_Non-coding_Transcript	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN	Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.	305	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GAGGGGGAGCTGGGGGGCCCCT	0.624													G	22864674	-	G	22864673	7	5	158	1	0	1	1	0	0	0	0	0	13334	1335	47	0	1014	0	RHOBTB2	8	22864673	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	388233	22864673	123499349	1272	85053											
RHOBTB2	23221	broad.mit.edu	37	chr8	22874858	22874860	+	In_Frame_Del	DEL	AGG	AGG	-													ggcacggaaggagcgtgagaAggaggactacctccacctca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:22874857_22874859AAGG>A	uc003xcp.2	+	11	2408_2410	c.2125_2127AAGG>A	c.(2125-2127)aag>A	p.K709del	RHOBTB2_uc011kzp.1_In_Frame_Del_p.K694del|RHOBTB2_uc003xcq.2_In_Frame_Del_p.K687del|BC043400_uc003xcr.3_Intron	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN	Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.	687					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GGAGCGTGAGAAGGAGGACTACC	0.581													-	22874860	AGG	-	22874858	7	5	158	1	0	1	0	1	0	0	0	0	13334	72	3	0	2179	0	RHOBTB2	8	22874858	In_Frame_Del	DEL	AGG	TCGA-CD-A4MG-01A-11D-A25D-08	10185	22874858	123489164	1273	85054											
TNFRSF10D	8793	broad.mit.edu	37	chr8	22995437	22995437	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcataaaagagcttttcGgagcccaccagttggtcctg	9	11	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:22995437G>A	uc003xcz.1	-	9	1199	c.1107C>T	c.(1105-1107)TCC>TCT	p.S369S		NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily,	369	Cytoplasmic (Potential).				anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		AGAGCTTTTCGGAGCCCACCA	0.478													A	22995437	G	A	22995437	2	1	158	1	0	0	0	0	0	0	0	1	16280	1103	39	1		1	TNFRSF10D	8	22995437	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	120579	22995437	123368585	1274	85055											
LOXL2	4017	broad.mit.edu	37	chr8	23156409	23156411	+	In_Frame_Del	DEL	TGT	TGT	-													gcggctcctgcatttcatgaTgttgttggagtaatcggatt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:23156408_23156410ATGT>A	uc003xdh.1	-	12	2523_2525	c.2184_2186ACAT>T	c.(2182-2187)aacatc>aaTc	p.I729del	LOXL2_uc010lty.1_Intron	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	729	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GCATTTCATGATGTTGTTGGAGT	0.571													-	23156411	TGT	-	23156409	7	5	158	1	0	1	0	1	0	0	0	0	8900	1464	51	0	147	0	LOXL2	8	23156409	In_Frame_Del	DEL	TGT	TCGA-CD-A4MG-01A-11D-A25D-08	160972	23156409	123207613	1275	85056											
NEFM	4741	broad.mit.edu	37	chr8	24771352	24771352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacccgtccgcctaccggCgggtaaccgagacccgctcg	12	18	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:24771352C>T	uc003xed.3	+	1	79	c.46C>T	c.(46-48)CGG>TGG	p.R16W	NEFM_uc011lac.1_Missense_Mutation_p.R16W|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	16	Head.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGCCTACCGGCGGGTAACCGA	0.701													T	24771352	C	T	24771352	3	4	158	1	0	0	0	0	1	0	0	0	10316	759	27	1	48	1	NEFM	8	24771352	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1614943	24771352	121592670	1276	85057											
NEFM	4741	broad.mit.edu	37	chr8	24772112	24772112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagacagacatctcgacggCgctgaaggaaatccgctccc	11	13	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:24772112C>T	uc003xed.3	+	1	839	c.806C>T	c.(805-807)GCG>GTG	p.A269V	NEFM_uc011lac.1_Missense_Mutation_p.A269V|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	269	Rod.|Coil 2A.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATCTCGACGGCGCTGAAGGAA	0.592													T	24772112	C	T	24772112	3	4	158	1	0	0	0	0	1	0	0	0	10316	768	27	1	808	1	NEFM	8	24772112	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	760	24772112	121591910	1277	85058											
ADRA1A	148	broad.mit.edu	37	chr8	26627968	26627968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccttgtgttgcccttccaCggcctggctgggcgggtgca	15	13	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:26627968C>T	uc003xfh.1	-	2	1535	c.1099G>A	c.(1099-1101)GTG>ATG	p.V367M	ADRA1A_uc003xfc.1_Missense_Mutation_p.V367M|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.V367M|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.V367M	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	367	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TGCCCTTCCACGGCCTGGCTG	0.527													T	26627968	C	T	26627968	3	4	158	1	0	0	0	0	1	0	0	0	334	536	19	1	596	1	ADRA1A	8	26627968	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1855856	26627968	119736054	1278	85059											
CLU	1191	broad.mit.edu	37	chr8	27456034	27456034	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacggtctccataaatttaGggttcttcctggagacttct	8	11	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:27456034G>T	uc003xfw.1	-	7	1341	c.1283C>A	c.(1282-1284)CCT>CAT	p.P428H	CLU_uc010lux.1_Missense_Mutation_p.P293H|CLU_uc003xfx.1_Missense_Mutation_p.P428H|CLU_uc003xfy.1_Missense_Mutation_p.P439H|CLU_uc003xfz.1_Missense_Mutation_p.P480H	NM_203339	NP_976084	P10909	CLUS_HUMAN	clusterin isoform 2	428					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			ovary(2)	2		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CATAAATTTAGGGTTCTTCCT	0.572													T	27456034	G	T	27456034	3	4	158	1	0	0	0	0	1	0	0	0	3568	1000	35	5	74	5	CLU	8	27456034	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	828066	27456034	118907988	1279	85060											
CLU	1191	broad.mit.edu	37	chr8	27456151	27456151	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcagaagtgtgggaagccAcctaaatggaacaagagaaa	12	6	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:27456151A>G	uc003xfw.1	-	7	1224	c.1166T>C	c.(1165-1167)GTG>GCG	p.V389A	CLU_uc010lux.1_Missense_Mutation_p.V254A|CLU_uc003xfx.1_Missense_Mutation_p.V389A|CLU_uc003xfy.1_Missense_Mutation_p.V400A|CLU_uc003xfz.1_Missense_Mutation_p.V441A	NM_203339	NP_976084	P10909	CLUS_HUMAN	clusterin isoform 2	389					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			ovary(2)	2		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GTGGGAAGCCACCTAAATGGA	0.507													G	27456151	A	G	27456151	3	3	158	1	0	0	0	0	1	0	0	0	3568	173	6	3	191	3	CLU	8	27456151	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	117	27456151	118907871	1280	85061											
CCDC25	55246	broad.mit.edu	37	chr8	27606032	27606032	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccttctgcctgtgaaagcCtatctgccccacatccatgt	6	15	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:27606032C>A	uc003xgc.2	-	6	441	c.328G>T	c.(328-330)GGC>TGC	p.G110C	CCDC25_uc003xgd.2_Missense_Mutation_p.G42C|CCDC25_uc011lan.1_Intron|CCDC25_uc011lao.1_Intron|CCDC25_uc003xge.2_Intron|CCDC25_uc003xgf.1_RNA	NM_018246	NP_060716	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	110											0		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		CTGTGAAAGCCTATCTGCCCC	0.473													A	27606032	C	A	27606032	3	1	158	1	0	0	0	0	1	0	0	0	2800	681	24	5	314	5	CCDC25	8	27606032	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	149881	27606032	118757990	1281	85062											
ZNF395	55893	broad.mit.edu	37	chr8	28217189	28217189	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggggtggtgcctggggAcaggggccctgcagctctgc	18	12	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:28217189A>G	uc003xgq.2	-	3	481	c.393T>C	c.(391-393)TGT>TGC	p.C131C	ZNF395_uc003xgt.2_Silent_p.C131C|ZNF395_uc003xgr.2_Silent_p.C131C|ZNF395_uc003xgs.2_Silent_p.C131C	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	131					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GTGCCTGGGGACAGGGGCCCT	0.652													G	28217189	A	G	28217189	2	3	158	1	0	0	0	0	0	0	0	1	17878	273	10	3		3	ZNF395	8	28217189	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	611157	28217189	118146833	1282	85063											
FBXO16	157574	broad.mit.edu	37	chr8	28340947	28340947	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccatctgtgttttttggaGgtgcaaatgccatcatgaaa	10	7	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:28340947G>T	uc003xgu.2	-	2	115	c.17C>A	c.(16-18)CCT>CAT	p.P6H	ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Missense_Mutation_p.P5H|FBXO16_uc003xgw.2_Missense_Mutation_p.P5H	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN	F-box only protein 16	6										ovary(1)	1		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		GTTTTTTGGAGGTGCAAATGC	0.398													T	28340947	G	T	28340947	3	4	158	1	0	0	0	0	1	0	0	0	5729	1000	35	5	893	5	FBXO16	8	28340947	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	123758	28340947	118023075	1283	85064											
INTS9	55756	broad.mit.edu	37	chr8	28654143	28654143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtcagaacaagaacatcGctgtttttgagagaagcttg	10	8	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:28654143G>A	uc003xha.2	-	9	1073	c.774C>T	c.(772-774)AGC>AGT	p.S258S	INTS9_uc011lav.1_Silent_p.S234S|INTS9_uc011law.1_Silent_p.S237S|INTS9_uc011lax.1_Silent_p.S151S|INTS9_uc010lvc.2_RNA|INTS9_uc003xhb.2_Silent_p.S258S	NM_018250	NP_060720	Q9NV88	INT9_HUMAN	integrator complex subunit 9 isoform 1	258					snRNA processing	integrator complex	protein binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CAAGAACATCGCTGTTTTTGA	0.438													A	28654143	G	A	28654143	2	1	158	1	0	0	0	0	0	0	0	1	7785	1078	38	1		1	INTS9	8	28654143	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	313196	28654143	117709879	1284	85065											
DUSP4	1846	broad.mit.edu	37	chr8	29207699	29207699	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccccagggtgccgtggcTgccgctgccgcccgcgccgc	15	20	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:29207699T>C	uc003xhm.2	-	1	487	c.97A>G	c.(97-99)AGC>GGC	p.S33G	DUSP4_uc003xhl.2_5'Flank	NM_001394	NP_001385	Q13115	DUS4_HUMAN	dual specificity phosphatase 4 isoform 1	33					endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			lung(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GTGCCGTGGCTGCCGCTGCCG	0.672													C	29207699	T	C	29207699	3	2	158	1	0	0	0	0	1	0	0	0	4827	1580	55	3	1267	3	DUSP4	8	29207699	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	553556	29207699	117156323	1285	85066											
TEX15	56154	broad.mit.edu	37	chr8	30699727	30699727	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atattcattttttcttttctCttcagctgtaaaatcttcct	2	9	5	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:30699727C>T	uc003xil.2	-	1	6807	c.6807G>A	c.(6805-6807)AAG>AAA	p.K2269K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2269										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTCTTTTCTCTTCAGCTGTA	0.313													T	30699727	C	T	30699727	2	4	158	1	0	0	0	0	0	0	0	1	15776	912	32	4		4	TEX15	8	30699727	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1492028	30699727	115664295	1286	85067											
C8orf41	80185	broad.mit.edu	37	chr8	33369577	33369577	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaatcctgccacagaaccGcattcagtaacttgaagcag	9	11	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:33369577G>A	uc003xjl.3	-	1	1080	c.555C>T	c.(553-555)TGC>TGT	p.C185C	C8orf41_uc003xjk.3_Silent_p.C185C|C8orf41_uc010lvv.2_Silent_p.C185C|C8orf41_uc003xjm.3_Silent_p.C185C|C8orf41_uc003xjn.1_Silent_p.C185C	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	hypothetical protein LOC80185	185							binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		CCACAGAACCGCATTCAGTAA	0.483													A	33369577	G	A	33369577	2	1	158	1	0	0	0	0	0	0	0	1	2427	1079	38	1		1	C8orf41	8	33369577	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2669850	33369577	112994445	1287	85068											
GPR124	25960	broad.mit.edu	37	chr8	37697756	37697756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcaagaaggggaccccGctctgcctactcccagtcct	9	18	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:37697756G>A	uc003xkj.2	+	17	2992	c.2629G>A	c.(2629-2631)GCT>ACT	p.A877T	GPR124_uc010lvy.2_Missense_Mutation_p.A660T	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	877	Cytoplasmic (Potential).				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGGGGACCCCGCTCTGCCTAC	0.597													A	37697756	G	A	37697756	3	1	158	1	0	0	0	0	1	0	0	0	6638	1087	38	1	2674	1	GPR124	8	37697756	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4328179	37697756	108666266	1288	85069											
PPAPDC1B	84513	broad.mit.edu	37	chr8	38126504	38126504	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacggggggagcagctccgTcaccctagaggggaacaaag	16	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:38126504T>C	uc003xlf.3	-	2	100	c.79A>G	c.(79-81)ACG>GCG	p.T27A	PPAPDC1B_uc003xle.3_5'UTR|PPAPDC1B_uc003xlg.3_Missense_Mutation_p.T27A|PPAPDC1B_uc010lwd.2_Missense_Mutation_p.T27A	NM_001102559	NP_001096029	Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain	27					phospholipid dephosphorylation	cytoplasm|integral to membrane|plasma membrane	phosphatidate phosphatase activity				0	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			AGCAGCTCCGTCACCCTAGAG	0.677													C	38126504	T	C	38126504	3	2	158	1	0	0	0	0	1	0	0	0	12294	1667	58	3	828	3	PPAPDC1B	8	38126504	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	428748	38126504	108237518	1289	85070											
FGFR1	2260	broad.mit.edu	37	chr8	38279325	38279325	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgtgtaccttccagaacGgtcaaccatgcagagtgatg	11	10	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:38279325G>A	uc003xlp.2	-	8	2013	c.1071C>T	c.(1069-1071)ACC>ACT	p.T357T	FGFR1_uc011lbo.1_Silent_p.T355T|FGFR1_uc011lbp.1_Silent_p.T268T|FGFR1_uc011lbq.1_Silent_p.T266T|FGFR1_uc010lwk.2_Silent_p.T349T|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Silent_p.T197T|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbu.1_Silent_p.T388T|FGFR1_uc011lbv.1_Silent_p.T355T|FGFR1_uc011lbw.1_Silent_p.T268T|FGFR1_uc011lbx.1_Silent_p.T268T	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	357	Ig-like C2-type 3.|Extracellular (Potential).				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CTTCCAGAACGGTCAACCATG	0.557		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						A	38279325	G	A	38279325	2	1	158	1	0	0	0	0	0	0	0	1	5863	1103	39	1		1	FGFR1	8	38279325	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	152821	38279325	108084697	1290	85071											
ADAM2	2515	broad.mit.edu	37	chr8	39678684	39678684	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taacattttcaaactgtagtAcgcccctaaaaatttcaaaa	3	9	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:39678684A>G	uc003xnj.2	-	6	425	c.350T>C	c.(349-351)GTA>GCA	p.V117A	ADAM2_uc003xnk.2_Missense_Mutation_p.V117A|ADAM2_uc011lck.1_Missense_Mutation_p.V117A|ADAM2_uc003xnl.2_Missense_Mutation_p.V117A	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	117					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AAACTGTAGTACGCCCCTAAA	0.318													G	39678684	A	G	39678684	3	3	158	1	0	0	0	0	1	0	0	0	241	391	14	3	1917	3	ADAM2	8	39678684	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1399359	39678684	106685338	1291	85072											
MYST3	7994	broad.mit.edu	37	chr8	41790285	41790285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtgaggttcatggtagtgGatgccaagtttgggggtggc	18	4	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:41790285G>A	uc010lxb.2	-	18	5997	c.5453C>T	c.(5452-5454)TCC>TTC	p.S1818F	MYST3_uc010lxc.2_Missense_Mutation_p.S1818F|MYST3_uc003xon.3_Missense_Mutation_p.S1818F	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1818					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CATGGTAGTGGATGCCAAGTT	0.537													A	41790285	G	A	41790285	3	1	158	1	0	0	0	0	1	0	0	0	10104	1174	41	4	565	4	MYST3	8	41790285	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2111601	41790285	104573737	1292	85073											
MYST3	7994	broad.mit.edu	37	chr8	41790549	41790549	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggaatcctctcatagataCttatgttcccagtgcttcca	6	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:41790549C>A	uc010lxb.2	-	18	5733	c.5189G>T	c.(5188-5190)AGT>ATT	p.S1730I	MYST3_uc010lxc.2_Missense_Mutation_p.S1730I|MYST3_uc003xon.3_Missense_Mutation_p.S1730I	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1730					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CTCATAGATACTTATGTTCCC	0.448													A	41790549	C	A	41790549	3	1	158	1	0	0	0	0	1	0	0	0	10104	565	20	5	829	5	MYST3	8	41790549	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	264	41790549	104573473	1293	85074											
MYST3	7994	broad.mit.edu	37	chr8	41800402	41800402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctctgagaccacagagttgGacactatgactggagtccag	11	11	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:41800402G>A	uc010lxb.2	-	15	2889	c.2345C>T	c.(2344-2346)TCC>TTC	p.S782F	MYST3_uc010lxc.2_Missense_Mutation_p.S782F|MYST3_uc003xon.3_Missense_Mutation_p.S782F|MYST3_uc010lxd.2_Missense_Mutation_p.S782F	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	782	Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CACAGAGTTGGACACTATGAC	0.483													A	41800402	G	A	41800402	3	1	158	1	0	0	0	0	1	0	0	0	10104	1174	41	4	3685	4	MYST3	8	41800402	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	9853	41800402	104563620	1294	85075											
HGSNAT	138050	broad.mit.edu	37	chr8	43013831	43013831	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcctgcagctgaacgacacCttggaagagaaagaagtttg	11	8	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:43013831C>A	uc003xpx.3	+	3	396	c.348C>A	c.(346-348)ACC>ACA	p.T116T		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	144	Lumenal, vesicle (Potential).				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity				0	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TGAACGACACCTTGGAAGAGA	0.448													A	43013831	C	A	43013831	2	1	158	1	0	0	0	0	0	0	0	1	7088	668	24	5		5	HGSNAT	8	43013831	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1213429	43013831	103350191	1295	85076											
PRKDC	5591	broad.mit.edu	37	chr8	48697726	48697726	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actttgaagtcgctcatccaGggtgaacattctttcagatt	8	9	3	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:48697726G>T	uc003xqi.2	-	78	11112	c.11055C>A	c.(11053-11055)CCC>CCA	p.P3685P	PRKDC_uc003xqj.2_Silent_p.P3685P|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3685					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CGCTCATCCAGGGTGAACATT	0.458								NHEJ					T	48697726	G	T	48697726	2	4	158	1	0	0	0	0	0	0	0	1	12521	987	35	5		5	PRKDC	8	48697726	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	5683895	48697726	97666296	1296	85077											
PRKDC	5591	broad.mit.edu	37	chr8	48746911	48746911	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactggtgtggtcgaccagCgggtcagtgctgctcccggt	17	11	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:48746911C>T	uc003xqi.2	-	60	8055	c.7998G>A	c.(7996-7998)CCG>CCA	p.P2666P	PRKDC_uc003xqj.2_Silent_p.P2666P|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2666	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGTCGACCAGCGGGTCAGTGC	0.547								NHEJ					T	48746911	C	T	48746911	2	4	158	1	0	0	0	0	0	0	0	1	12521	755	27	1		1	PRKDC	8	48746911	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	49185	48746911	97617111	1297	85078											
SNTG1	54212	broad.mit.edu	37	chr8	51705315	51705315	+	Frame_Shift_Del	DEL	T	T	-													tagcttgtttggaccctctaTttttaggcaatcaagctact							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:51705314_51705314AT>A	uc010lxy.1	+	19	1850	c.1479_1479AT>A	c.(1477-1479)ctafs	p.L493fs	SNTG1_uc003xqs.1_Frame_Shift_Del_p.L493fs|SNTG1_uc010lxz.1_Frame_Shift_Del_p.L456fs|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	493					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGGACCCTCTATTTTTAGGCA	0.413													-	51705315	T	-	51705315	7	5	158	1	0	1	0	1	0	0	0	0	14874	1493	52	0	1546	0	SNTG1	8	51705315	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	2958404	51705315	94658707	1298	85079											
PCMTD1	115294	broad.mit.edu	37	chr8	52744118	52744118	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctgtccagttcgcataaTctgtgttaactatttagaga	8	7	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:52744118T>C	uc003xqx.3	-	5	933	c.592A>G	c.(592-594)ATT>GTT	p.I198V	PCMTD1_uc011ldm.1_Missense_Mutation_p.I68V|PCMTD1_uc003xqw.3_Missense_Mutation_p.I198V|PCMTD1_uc011ldn.1_Missense_Mutation_p.I10V|PCMTD1_uc010lya.2_Missense_Mutation_p.I122V	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate)	198						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0		Lung NSC(129;0.0795)|all_lung(136;0.144)				GTTCGCATAATCTGTGTTAAC	0.353													C	52744118	T	C	52744118	3	2	158	1	0	0	0	0	1	0	0	0	11586	1435	50	3	489	3	PCMTD1	8	52744118	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1038803	52744118	93619904	1299	85080											
ST18	9705	broad.mit.edu	37	chr8	53062482	53062483	+	Frame_Shift_Ins	INS	-	-	T													agacttgtccaggattcgatINStttttttcatgcttaagtcc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:53062481_53062482A>AT	uc003xqz.2	-	10	2018_2019	c.1862_1863T>AT	c.(1861-1863)aatfs	p.N621fs	ST18_uc011ldq.1_Frame_Shift_Ins_p.N268fs|ST18_uc011ldr.1_Frame_Shift_Ins_p.N586fs|ST18_uc011lds.1_Frame_Shift_Ins_p.N526fs|ST18_uc003xra.2_Frame_Shift_Ins_p.N621fs|ST18_uc003xrb.2_Frame_Shift_Ins_p.N621fs	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	621						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCAGGATTCGATTTTTTTTCAT	0.411													T	53062483	-	T	53062482	7	5	158	1	0	1	1	0	0	0	0	0	15211	1493	52	0	1325	0	ST18	8	53062482	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	318364	53062482	93301540	1300	85081											
RP1	6101	broad.mit.edu	37	chr8	55542253	55542253	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagaccgaggatttgcataTcgcaaagaatctgatattga	10	6	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:55542253T>A	uc003xsd.1	+	4	5959	c.5811T>A	c.(5809-5811)TAT>TAA	p.Y1937*	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1937					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GATTTGCATATCGCAAAGAAT	0.358													A	55542253	T	A	55542253	4	1	158	1	0	0	0	0	0	1	0	0	13532	1442	50	5	5821	5	RP1	8	55542253	Nonsense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	2479771	55542253	90821769	1301	85082											
TRIM55	84675	broad.mit.edu	37	chr8	67064625	67064625	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttaccagaagatgaagatgaAgaagaagaagaaggcggaga	14	3	0	10			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:67064625A>T	uc003xvv.2	+	8	1225	c.999A>T	c.(997-999)GAA>GAT	p.E333D	TRIM55_uc003xvu.2_Missense_Mutation_p.E333D|TRIM55_uc003xvw.2_Missense_Mutation_p.E333D|TRIM55_uc003xvx.2_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	333						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			atgaagatgaagaagaagaag	0.199													T	67064625	A	T	67064625	3	4	158	1	0	0	0	0	1	0	0	0	16526	69	3	5	1029	5	TRIM55	8	67064625	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	11522372	67064625	79299397	1302	85083											
CSPP1	79848	broad.mit.edu	37	chr8	68007801	68007801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaaaggtttgcaagcaagGctggcattccagatagaaga	11	7	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:68007801G>A	uc003xxi.2	+	8	920	c.889G>A	c.(889-891)GCT>ACT	p.A297T	CSPP1_uc003xxg.1_Missense_Mutation_p.A289T|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.A262T|CSPP1_uc003xxk.2_5'UTR	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	297						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGCAAGCAAGGCTGGCATTCC	0.353													A	68007801	G	A	68007801	3	1	158	1	0	0	0	0	1	0	0	0	3962	1203	42	2	919	2	CSPP1	8	68007801	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	943176	68007801	78356221	1303	85084											
ARFGEF1	10565	broad.mit.edu	37	chr8	68163614	68163614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcacggcctccatgagtgCtttagctgtcttggccatct	10	13	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:68163614C>T	uc003xxo.1	-	19	3160	c.2770G>A	c.(2770-2772)GCA>ACA	p.A924T	ARFGEF1_uc003xxl.1_Missense_Mutation_p.A378T	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	924					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCCATGAGTGCTTTAGCTGTC	0.408													T	68163614	C	T	68163614	3	4	158	1	0	0	0	0	1	0	0	0	852	797	28	2	2863	2	ARFGEF1	8	68163614	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	155813	68163614	78200408	1304	85085											
PREX2	80243	broad.mit.edu	37	chr8	68956788	68956788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcgtggccggatcaacacGgaggtgatggaagtggagaa	16	6	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:68956788G>A	uc003xxv.1	+	8	933	c.906G>A	c.(904-906)ACG>ACA	p.T302T	PREX2_uc003xxu.1_Silent_p.T302T|PREX2_uc011lez.1_Silent_p.T237T	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	302	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GGATCAACACGGAGGTGATGG	0.408													A	68956788	G	A	68956788	2	1	158	1	0	0	0	0	0	0	0	1	12477	1103	39	1		1	PREX2	8	68956788	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	793174	68956788	77407234	1305	85086											
PREX2	80243	broad.mit.edu	37	chr8	68992731	68992731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacttttccgttttttttcgGatgaggaaatggagggatca	11	5	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:68992731G>A	uc003xxv.1	+	16	1723	c.1696G>A	c.(1696-1698)GAT>AAT	p.D566N	PREX2_uc003xxu.1_Missense_Mutation_p.D566N|PREX2_uc011lez.1_Missense_Mutation_p.D501N	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	566	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						TTTTTTTTCGGATGAGGAAAT	0.318													A	68992731	G	A	68992731	3	1	158	1	0	0	0	0	1	0	0	0	12477	1174	41	4	1758	4	PREX2	8	68992731	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	35943	68992731	77371291	1306	85087											
NCOA2	10499	broad.mit.edu	37	chr8	71082472	71082472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtttttgacaaattccGtgtggtccccaacatgcaag	10	10	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:71082472G>A	uc003xyn.1	-	6	668	c.506C>T	c.(505-507)ACG>ATG	p.T169M		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	169	PAS.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GACAAATTCCGTGTGGTCCCC	0.473			T	RUNXBP2	AML								A	71082472	G	A	71082472	3	1	158	1	0	0	0	0	1	0	0	0	10229	1145	40	1	3960	1	NCOA2	8	71082472	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2089741	71082472	75281550	1307	85088											
KCNB2	9312	broad.mit.edu	37	chr8	73480200	73480200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagcctcctggaagtgtgCgacgactataatctgaacga	12	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:73480200C>T	uc003xzb.2	+	2	819	c.231C>T	c.(229-231)TGC>TGT	p.C77C		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	77	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			TGGAAGTGTGCGACGACTATA	0.522													T	73480200	C	T	73480200	2	4	158	1	0	0	0	0	0	0	0	1	8013	776	27	1		1	KCNB2	8	73480200	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2397728	73480200	72883822	1308	85089											
LY96	23643	broad.mit.edu	37	chr8	74903699	74903699	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttaccatttctgttttttTccaccctgttttcttccata	3	11	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:74903699T>C	uc003yad.2	+	1	113	c.22T>C	c.(22-24)TCC>CCC	p.S8P		NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	MD-2 protein precursor	8					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding				0	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			TCTGTTTTTTTCCACCCTGTT	0.368													C	74903699	T	C	74903699	3	2	158	1	0	0	0	0	1	0	0	0	9102	1783	62	3	24	3	LY96	8	74903699	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1423499	74903699	71460323	1309	85090											
ZFHX4	79776	broad.mit.edu	37	chr8	77618298	77618298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actacaaatatcagcagaccCtggaggcccatatgaaggag	10	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:77618298C>T	uc003yav.2	+	2	2362	c.1975C>T	c.(1975-1977)CTG>TTG	p.L659L	ZFHX4_uc003yat.1_Silent_p.L659L|ZFHX4_uc003yau.1_Silent_p.L659L|ZFHX4_uc003yaw.1_Silent_p.L659L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	659	C2H2-type 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCAGCAGACCCTGGAGGCCCA	0.502										HNSCC(33;0.089)			T	77618298	C	T	77618298	2	4	158	1	0	0	0	0	0	0	0	1	17632	680	24	4		4	ZFHX4	8	77618298	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2714599	77618298	68745724	1310	85091											
CA3	761	broad.mit.edu	37	chr8	86358436	86358436	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccggcatgccgggactactgGacctaccagggctcattcac	11	15	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:86358436G>T	uc003ydj.2	+	6	656	c.573G>T	c.(571-573)TGG>TGT	p.W191C	CA3_uc011lfv.1_RNA	NM_005181	NP_005172	P07451	CAH3_HUMAN	carbonic anhydrase III	191					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0						GGGACTACTGGACCTACCAGG	0.612													T	86358436	G	T	86358436	3	4	158	1	0	0	0	0	1	0	0	0	2517	1183	41	5	595	5	CA3	8	86358436	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	8740138	86358436	60005586	1311	85092											
PSKH2	85481	broad.mit.edu	37	chr8	87076656	87076656	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attaccatgtaaacttgatcCtcagtctcaaagatctccat	4	11	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:87076656C>A	uc011lfy.1	-	2	390	c.390G>T	c.(388-390)GAG>GAT	p.E130D		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	130	Protein kinase.						ATP binding|protein serine/threonine kinase activity			stomach(2)|lung(2)|ovary(1)	5			STAD - Stomach adenocarcinoma(118;0.129)			AAACTTGATCCTCAGTCTCAA	0.542													A	87076656	C	A	87076656	3	1	158	1	0	0	0	0	1	0	0	0	12665	680	24	5	773	5	PSKH2	8	87076656	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	718220	87076656	59287366	1312	85093											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885901	88885901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcgcatggtgatgatgCcgtacttggagcctccagct	13	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:88885901C>T	uc003ydz.2	-	1	396	c.299G>A	c.(298-300)GGC>GAC	p.G100D		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	100										ovary(1)	1						GGTGATGATGCCGTACTTGGA	0.547													T	88885901	C	T	88885901	3	4	158	1	0	0	0	0	1	0	0	0	4272	739	26	2	892	2	DCAF4L2	8	88885901	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1809245	88885901	57478121	1313	85094											
DECR1	1666	broad.mit.edu	37	chr8	91013752	91013752	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccagggttttctttactcTggggtcccggctgccctgtg	14	12	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:91013752T>G	uc003yek.1	+	1	173	c.32T>G	c.(31-33)CTG>CGG	p.L11R	DECR1_uc011lgc.1_5'UTR|DECR1_uc011lgd.1_RNA	NM_001359	NP_001350	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1 precursor	11					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTCTTTACTCTGGGGTCCCGG	0.672											OREG0018857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	91013752	T	G	91013752	3	3	158	1	0	0	0	0	1	0	0	0	4382	1580	55	5	34	5	DECR1	8	91013752	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	2127851	91013752	55350270	1314	85095											
ESRP1	54845	broad.mit.edu	37	chr8	95680402	95680402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggaatatgcacagaatgCgttgaggaagcataaagact	12	5	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:95680402C>T	uc003ygq.3	+	10	1340	c.1157C>T	c.(1156-1158)GCG>GTG	p.A386V	ESRP1_uc003ygr.3_Missense_Mutation_p.A386V|ESRP1_uc003ygs.3_Missense_Mutation_p.A386V|ESRP1_uc003ygt.3_Missense_Mutation_p.A386V|ESRP1_uc003ygu.3_Missense_Mutation_p.A386V|ESRP1_uc003ygv.2_Missense_Mutation_p.A226V|ESRP1_uc003ygw.2_Missense_Mutation_p.A226V	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	386	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						GCACAGAATGCGTTGAGGAAG	0.458													T	95680402	C	T	95680402	3	4	158	1	0	0	0	0	1	0	0	0	5258	768	27	1	1195	1	ESRP1	8	95680402	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	4666650	95680402	50683620	1315	85096											
GDF6	392255	broad.mit.edu	37	chr8	97172764	97172764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcactgtcgcgcggcgcccGctgcatcttgccttccttgc	11	17	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:97172764G>A	uc003yhp.2	-	1	257	c.157C>T	c.(157-159)CGG>TGG	p.R53W		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	53					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					CGCGGCGCCCGCTGCATCTTG	0.706													A	97172764	G	A	97172764	3	1	158	1	0	0	0	0	1	0	0	0	6317	1086	38	1	1218	1	GDF6	8	97172764	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1492362	97172764	49191258	1316	85097											
TSPYL5	85453	broad.mit.edu	37	chr8	98289664	98289664	+	Frame_Shift_Del	DEL	G	G	-													gccacgccggtttccaacgcGgggggcatttttcggccttc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:98289663_98289663CG>C	uc003yhy.3	-	0	514	c.410_410CG>G	c.(409-411)cgcfs	p.R137fs		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	Homo sapiens TSPY-like 5 (TSPYL5), mRNA.	137					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GTTTCCAACGCGGGGGGCATT	0.672													-	98289664	G	-	98289664	7	5	158	1	0	1	0	1	0	0	0	0	16659	1116	39	0	848	0	TSPYL5	8	98289664	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	1116900	98289664	48074358	1317	85098											
POP1	10940	broad.mit.edu	37	chr8	99139937	99139937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgtttagaaaaaagggagGatggaaagcaggtcccgagg	16	4	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:99139937G>A	uc003yij.3	+	3	357	c.257G>A	c.(256-258)GGA>GAA	p.G86E	POP1_uc011lgv.1_Missense_Mutation_p.G86E|POP1_uc003yik.2_Missense_Mutation_p.G86E	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	86					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AAAAAGGGAGGATGGAAAGCA	0.493													A	99139937	G	A	99139937	3	1	158	1	0	0	0	0	1	0	0	0	12251	1174	41	4	263	4	POP1	8	99139937	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	850273	99139937	47224085	1318	85099											
PABPC1	26986	broad.mit.edu	37	chr8	101717277	101717277	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgaataagaggaaacagCcgttcacctaggaacagaaa	10	8	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:101717277C>T	uc003yjs.1	-	13	2199	c.1695G>A	c.(1693-1695)CGG>CGA	p.R565R	PABPC1_uc011lhc.1_Silent_p.R533R|PABPC1_uc011lhd.1_Silent_p.R520R|PABPC1_uc003yjt.1_Silent_p.R562R|PABPC1_uc003yju.2_RNA	NM_002568	NP_002559	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	565	PABC.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity				0	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GAGGAAACAGCCGTTCACCTA	0.373													T	101717277	C	T	101717277	2	4	158	1	0	0	0	0	0	0	0	1	11363	726	26	2		2	PABPC1	8	101717277	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2577340	101717277	44646745	1319	85100											
KLF10	7071	broad.mit.edu	37	chr8	103664221	103664221	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagtgtacagtagatggCgctggtgccatcagatttga	13	6	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:103664221C>T	uc011lhk.1	-	3	493	c.339G>A	c.(337-339)GCG>GCA	p.A113A	KLF10_uc011lhj.1_Silent_p.A102A	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Kruppel-like factor 10 isoform a	113					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			CAGTAGATGGCGCTGGTGCCA	0.453											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	103664221	C	T	103664221	2	4	158	1	0	0	0	0	0	0	0	1	8338	755	27	1		1	KLF10	8	103664221	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1946944	103664221	42699801	1320	85101											
AZIN1	51582	broad.mit.edu	37	chr8	103852031	103852031	+	Frame_Shift_Del	DEL	A	A	-													atctttccaagatctcccacAaaaaatgcatttttccctgt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:103852030_103852030CA>C	uc003ykx.3	-	4	866	c.124_124TG>G	c.(124-126)gtgfs	p.V42fs	AZIN1_uc003yky.3_Frame_Shift_Del_p.V42fs	NM_015878	NP_680479	O14977	AZIN1_HUMAN	Homo sapiens antizyme inhibitor 1 (AZIN1), transcript variant 1, mRNA.	42					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			AGATCTCCCACAAAAAATGCA	0.358													-	103852031	A	-	103852031	7	5	158	1	0	1	0	1	0	0	0	0	1242	127	5	0	1259	0	AZIN1	8	103852031	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	187810	103852031	42511991	1321	85102											
SLC25A32	81034	broad.mit.edu	37	chr8	104415462	104415462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaacattcctttatattgtCggtgtggggagttaacaaca	9	7	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:104415462C>T	uc003yll.2	-	4	785	c.482G>A	c.(481-483)CGA>CAA	p.R161Q	SLC25A32_uc011lhr.1_Missense_Mutation_p.R29Q	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	solute carrier family 25, member 32	161	Solcar 2.				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TTTATATTGTCGGTGTGGGGA	0.338													T	104415462	C	T	104415462	3	4	158	1	0	0	0	0	1	0	0	0	14496	884	31	1	481	1	SLC25A32	8	104415462	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	563431	104415462	41948560	1322	85103											
RIMS2	9699	broad.mit.edu	37	chr8	104924330	104924330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagatcgtttaattggtcGcattttattaaataagcgtc	9	5	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:104924330G>A	uc003yls.2	+	4	1317	c.1076G>A	c.(1075-1077)CGC>CAC	p.R359H	RIMS2_uc003ylp.2_Missense_Mutation_p.R581H|RIMS2_uc003ylw.2_Missense_Mutation_p.R389H|RIMS2_uc003ylq.2_Missense_Mutation_p.R389H|RIMS2_uc003ylr.2_Missense_Mutation_p.R436H|RIMS2_uc003ylt.2_5'UTR	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	659					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTAATTGGTCGCATTTTATTA	0.328										HNSCC(12;0.0054)			A	104924330	G	A	104924330	3	1	158	1	0	0	0	0	1	0	0	0	13368	1087	38	1	1890	1	RIMS2	8	104924330	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	508868	104924330	41439692	1323	85104											
LRP12	29967	broad.mit.edu	37	chr8	105509436	105509436	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcctggttggcaaaaaaaGcagtttttttcatctgagcc	8	8	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:105509436G>A	uc003yma.2	-	5	1439	c.1344C>T	c.(1342-1344)TGC>TGT	p.C448C	LRP12_uc003ymb.2_Silent_p.C429C|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	448	Extracellular (Potential).|LDL-receptor class A 4.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GGCAAAAAAAGCAGTTTTTTT	0.418													A	105509436	G	A	105509436	2	1	158	1	0	0	0	0	0	0	0	1	8954	963	34	2		2	LRP12	8	105509436	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	585106	105509436	40854586	1324	85105											
LRP12	29967	broad.mit.edu	37	chr8	105511744	105511744	+	Frame_Shift_Del	DEL	A	A	-													ccttgaatatcaaaatcctgAaaactgaaaaaaaaatcaga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:105511743_105511743GA>G	uc003yma.3	-	3	404	c.277_277TC>C	c.(277-279)cagfs	p.Q93fs	LRP12_uc003ymb.3_Frame_Shift_Del_p.Q74fs	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	93	CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCAAAATCCTGAAAACTGAAA	0.299													-	105511744	A	-	105511744	7	5	158	1	0	1	0	1	0	0	0	0	8954	243	9	0	2319	0	LRP12	8	105511744	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	2308	105511744	40852278	1325	85106											
ZFPM2	23414	broad.mit.edu	37	chr8	106431520	106431520	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgaagaagtggaatacttTtgtaacaaaggtaattgttg	11	3	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:106431520T>C	uc003ymd.2	+	2	212	c.189T>C	c.(187-189)TTT>TTC	p.F63F		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	63					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGGAATACTTTTGTAACAAAG	0.368													C	106431520	T	C	106431520	2	2	158	1	0	0	0	0	0	0	0	1	17655	1838	64	3		3	ZFPM2	8	106431520	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	919776	106431520	39932502	1326	85107											
PKHD1L1	93035	broad.mit.edu	37	chr8	110539153	110539153	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catcaactgtgggtacatatGcccagataatgactgtagta	9	8	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:110539153G>C	uc003yne.2	+	77	12729	c.12625G>C	c.(12625-12627)GCC>CCC	p.A4209P		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	4209	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGGTACATATGCCCAGATAAT	0.343										HNSCC(38;0.096)			C	110539153	G	C	110539153	3	2	158	1	0	0	0	0	1	0	0	0	11972	1319	46	5	12931	5	PKHD1L1	8	110539153	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4107633	110539153	35824869	1327	85108											
SYBU	55638	broad.mit.edu	37	chr8	110587169	110587169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaaggcggtgcggcggagcGaatgcagggcaaccacgcaa	18	10	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:110587169G>A	uc003ynj.3	-	7	2121	c.1958C>T	c.(1957-1959)TCG>TTG	p.S653L	SYBU_uc003yni.3_Missense_Mutation_p.S650L|SYBU_uc003ynk.3_Missense_Mutation_p.S534L|SYBU_uc010mco.2_Missense_Mutation_p.S652L|SYBU_uc003ynl.3_Missense_Mutation_p.S652L|SYBU_uc010mcp.2_Missense_Mutation_p.S653L|SYBU_uc010mcq.2_Missense_Mutation_p.S653L|SYBU_uc003yno.3_Missense_Mutation_p.S534L|SYBU_uc010mcr.2_Missense_Mutation_p.S653L|SYBU_uc003ynm.3_Missense_Mutation_p.S652L|SYBU_uc003ynn.3_Missense_Mutation_p.S652L|SYBU_uc010mcs.2_Missense_Mutation_p.S534L|SYBU_uc010mct.2_Missense_Mutation_p.S653L|SYBU_uc010mcu.2_Missense_Mutation_p.S652L|SYBU_uc003ynp.3_Missense_Mutation_p.S585L|SYBU_uc010mcv.2_Missense_Mutation_p.S653L|SYBU_uc003ynh.3_Missense_Mutation_p.S447L|SYBU_uc011lhw.1_Missense_Mutation_p.S523L	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	653						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						GCGGCGGAGCGAATGCAGGGC	0.547													A	110587169	G	A	110587169	3	1	158	1	0	0	0	0	1	0	0	0	15424	1059	37	1	37	1	SYBU	8	110587169	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	48016	110587169	35776853	1328	85109											
CSMD3	114788	broad.mit.edu	37	chr8	113293470	113293470	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctaactgaaggtccagaAaggatgtatccctccatgca	9	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:113293470A>G	uc003ynu.2	-	59	9600	c.9441T>C	c.(9439-9441)CTT>CTC	p.L3147L	CSMD3_uc003yns.2_Silent_p.L2349L|CSMD3_uc003ynt.2_Silent_p.L3107L|CSMD3_uc011lhx.1_Silent_p.L2978L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3147	Extracellular (Potential).|Sushi 23.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AAGGTCCAGAAAGGATGTATC	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113293470	A	G	113293470	2	3	158	1	0	0	0	0	0	0	0	1	3946	1	1	3		3	CSMD3	8	113293470	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	2706301	113293470	33070552	1329	85110											
CSMD3	114788	broad.mit.edu	37	chr8	113364726	113364726	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaattttaattccactgctAggagtttgtggttcaggaca	9	8	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:113364726A>G	uc003ynu.2	-	39	6333	c.6174T>C	c.(6172-6174)CCT>CCC	p.P2058P	CSMD3_uc003yns.2_Silent_p.P1260P|CSMD3_uc003ynt.2_Silent_p.P2018P|CSMD3_uc011lhx.1_Silent_p.P1954P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2058	Extracellular (Potential).|Sushi 11.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TTCCACTGCTAGGAGTTTGTG	0.323										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113364726	A	G	113364726	2	3	158	1	0	0	0	0	0	0	0	1	3946	407	15	3		3	CSMD3	8	113364726	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	71256	113364726	32999296	1330	85111											
CSMD3	114788	broad.mit.edu	37	chr8	113518988	113518988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcacagtctctgctatgCggatatggatgagggaagtt	13	7	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:113518988C>T	uc003ynu.2	-	29	4986	c.4827G>A	c.(4825-4827)CCG>CCA	p.P1609P	CSMD3_uc003yns.2_Silent_p.P881P|CSMD3_uc003ynt.2_Silent_p.P1569P|CSMD3_uc011lhx.1_Silent_p.P1505P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1609	Extracellular (Potential).|CUB 9.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CTCTGCTATGCGGATATGGAT	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113518988	C	T	113518988	2	4	158	1	0	0	0	0	0	0	0	1	3946	755	27	1		1	CSMD3	8	113518988	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	154262	113518988	32845034	1331	85112											
TRPS1	7227	broad.mit.edu	37	chr8	116427181	116427181	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcttccattgacttgctcCtcattgctgcccctctgctg	9	15	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:116427181C>A	uc003ynz.2	-	6	3375	c.2916G>T	c.(2914-2916)GAG>GAT	p.E972D	TRPS1_uc011lhy.1_Missense_Mutation_p.E976D|TRPS1_uc003yny.2_Missense_Mutation_p.E985D|TRPS1_uc010mcy.2_Missense_Mutation_p.E972D	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	972					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGACTTGCTCCTCATTGCTGC	0.488									Langer-Giedion_syndrome				A	116427181	C	A	116427181	3	1	158	1	0	0	0	0	1	0	0	0	16590	680	24	5	933	5	TRPS1	8	116427181	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2908193	116427181	29936841	1332	85113											
TRPS1	7227	broad.mit.edu	37	chr8	116599543	116599543	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcatcactggaactctcGgtccaaactttctctttgag	8	11	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:116599543G>A	uc003ynz.2	-	4	2805	c.2346C>T	c.(2344-2346)ACC>ACT	p.T782T	TRPS1_uc011lhy.1_Silent_p.T786T|TRPS1_uc003yny.2_Silent_p.T795T|TRPS1_uc010mcy.2_Silent_p.T782T	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	782	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGGAACTCTCGGTCCAAACTT	0.542									Langer-Giedion_syndrome				A	116599543	G	A	116599543	2	1	158	1	0	0	0	0	0	0	0	1	16590	1103	39	1		1	TRPS1	8	116599543	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	172362	116599543	29764479	1333	85114											
EXT1	2131	broad.mit.edu	37	chr8	118830743	118830743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgtttggctggtaggggCttgtcacaattccatagaac	13	8	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:118830743C>T	uc003yok.1	-	7	2336	c.1563G>A	c.(1561-1563)AAG>AAA	p.K521K		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	521	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CTGGTAGGGGCTTGTCACAAT	0.507			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				T	118830743	C	T	118830743	2	4	158	1	0	0	0	0	0	0	0	1	5323	796	28	2		2	EXT1	8	118830743	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2231200	118830743	27533279	1334	85115											
ENPP2	5168	broad.mit.edu	37	chr8	120598486	120598486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaattcttctgttgttgGcatagtgcaaacgtttggga	10	8	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:120598486G>A	uc003yot.1	-	15	1393	c.1307C>T	c.(1306-1308)GCC>GTC	p.A436V	ENPP2_uc011lic.1_5'Flank|ENPP2_uc003yor.1_Missense_Mutation_p.A75V|ENPP2_uc003yos.1_Missense_Mutation_p.A488V|ENPP2_uc010mdd.1_Missense_Mutation_p.A436V	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	autotaxin isoform 2 preproprotein	436					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCTGTTGTTGGCATAGTGCAA	0.398													A	120598486	G	A	120598486	3	1	158	1	0	0	0	0	1	0	0	0	5130	1203	42	2	1407	2	ENPP2	8	120598486	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1767743	120598486	25765536	1335	85116											
DSCC1	79075	broad.mit.edu	37	chr8	120859283	120859283	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggtcattatttcttcctcaCttgcctgaatttgatcaagc	7	10	4	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:120859283C>G	uc003yov.2	-	4	659	c.524G>C	c.(523-525)AGT>ACT	p.S175T		NM_024094	NP_076999	Q9BVC3	DCC1_HUMAN	defective in sister chromatid cohesion 1	175					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			pancreas(1)	1	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTCTTCCTCACTTGCCTGAAT	0.313													G	120859283	C	G	120859283	3	3	158	1	0	0	0	0	1	0	0	0	4770	565	20	5	681	5	DSCC1	8	120859283	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	260797	120859283	25504739	1336	85117											
COL14A1	7373	broad.mit.edu	37	chr8	121357800	121357800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccagggaccccaggagaacGaggtaagctgggccccttct	14	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:121357800G>A	uc003yox.2	+	45	5340	c.5075G>A	c.(5074-5076)CGA>CAA	p.R1692Q	COL14A1_uc003yoz.2_Missense_Mutation_p.R657Q	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1692	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCAGGAGAACGAGGTAAGCTG	0.572													A	121357800	G	A	121357800	3	1	158	1	0	0	0	0	1	0	0	0	3671	1058	37	1	5249	1	COL14A1	8	121357800	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	498517	121357800	25006222	1337	85118											
MTBP	27085	broad.mit.edu	37	chr8	121463481	121463481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgaagatgttcttcaaaCgaatatcgaagaatgtttgg	9	4	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:121463481C>T	uc003ypc.1	+	4	389	c.344C>T	c.(343-345)ACG>ATG	p.T115M	MTBP_uc003ypb.1_Missense_Mutation_p.T115M|MTBP_uc011lie.1_RNA	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53	115					cell cycle arrest					skin(2)|ovary(1)	3	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GTTCTTCAAACGAATATCGAA	0.308													T	121463481	C	T	121463481	3	4	158	1	0	0	0	0	1	0	0	0	9912	536	19	1	358	1	MTBP	8	121463481	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	105681	121463481	24900541	1338	85119											
ZHX1	11244	broad.mit.edu	37	chr8	124267534	124267534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattttctacaatttcttcaCggtctggtttgatttcattc	6	8	5	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:124267534C>T	uc003yqe.2	-	3	1083	c.653G>A	c.(652-654)CGT>CAT	p.R218H	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.R218H|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.R218H	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	218					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AATTTCTTCACGGTCTGGTTT	0.363													T	124267534	C	T	124267534	3	4	158	1	0	0	0	0	1	0	0	0	17672	536	19	1	1972	1	ZHX1	8	124267534	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2804053	124267534	22096488	1339	85120											
FAM91A1	157769	broad.mit.edu	37	chr8	124787486	124787486	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaccatctatcggatattaTggtgaaaggcttgaggataa	10	5	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:124787486T>C	uc003yqv.2	+	3	318	c.257T>C	c.(256-258)ATG>ACG	p.M86T	FAM91A1_uc011lik.1_Missense_Mutation_p.M86T|FAM91A1_uc011lil.1_5'UTR	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	86										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TCGGATATTATGGTGAAAGGC	0.423													C	124787486	T	C	124787486	3	2	158	1	0	0	0	0	1	0	0	0	5651	1464	51	3	267	3	FAM91A1	8	124787486	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	519952	124787486	21576536	1340	85121											
FER1L6	654463	broad.mit.edu	37	chr8	125061917	125061918	+	Frame_Shift_Ins	INS	-	-	C													ggctgaccaggactatgagcINScccccaggttatgctatcac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:125061916_125061917G>GC	uc003yqw.3	+	21	2999_3000	c.2793_2794G>GC	c.(2791-2796)gagcccfs	p.E931fs	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	931						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGGACTATGAGCCCCCCAGGTT	0.495													C	125061918	-	C	125061917	7	5	158	1	0	1	1	0	0	0	0	0	5815	739	26	0	2876	0	FER1L6	8	125061917	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	274431	125061917	21302105	1341	85122											
RNF139	11236	broad.mit.edu	37	chr8	125499070	125499070	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagacattttcctgtgctgTttgtctctgcttgcctgttt	9	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:125499070T>C	uc003yrc.2	+	2	1523	c.1180T>C	c.(1180-1182)TTT>CTT	p.F394L		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	394	Helical; (Potential).				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCCTGTGCTGTTTGTCTCTGC	0.403									Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3				C	125499070	T	C	125499070	3	2	158	1	0	0	0	0	1	0	0	0	13442	1725	60	3	1186	3	RNF139	8	125499070	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	437153	125499070	20864952	1342	85123											
MTSS1	9788	broad.mit.edu	37	chr8	125568558	125568558	+	Frame_Shift_Del	DEL	C	C	-													cgctggcggtagtgggtcctCccccgttggggtccggttct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:125568557_125568557TC>T	uc003yrl.2	-	12	1866	c.1332_1332GA>A	c.(1330-1332)ggafs	p.G444fs	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_5'UTR|MTSS1_uc011lin.1_Frame_Shift_Del_p.G214fs|MTSS1_uc011lio.1_Frame_Shift_Del_p.G330fs|MTSS1_uc003yri.2_Frame_Shift_Del_p.G158fs|MTSS1_uc003yrj.2_Frame_Shift_Del_p.G415fs|MTSS1_uc003yrk.2_Frame_Shift_Del_p.G440fs	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	440					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TAGTGGGTCCTCCCCCGTTGG	0.622													-	125568558	C	-	125568558	7	5	158	1	0	1	0	1	0	0	0	0	9962	855	30	0	960	0	MTSS1	8	125568558	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	69488	125568558	20795464	1343	85124											
SQLE	6713	broad.mit.edu	37	chr8	126034042	126034042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacacttctttgctgttgCaatctatgccgtgtattttt	8	8	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:126034042C>T	uc011liq.1	+	11	2506	c.1580C>T	c.(1579-1581)GCA>GTA	p.A527V		NM_003129	NP_003120	Q14534	ERG1_HUMAN	squalene epoxidase	527					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			ovary(1)|breast(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TTTGCTGTTGCAATCTATGCC	0.368													T	126034042	C	T	126034042	3	4	158	1	0	0	0	0	1	0	0	0	15127	710	25	2	1521	2	SQLE	8	126034042	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	465484	126034042	20329980	1344	85125											
GSDMC	56169	broad.mit.edu	37	chr8	130760756	130760756	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagggagggcttaggcctcAgccagctgctgcagcaacga	14	12	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:130760756A>G	uc003ysr.2	-	14	2400	c.1518T>C	c.(1516-1518)GCT>GCC	p.A506A		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	melanoma-derived leucine zipper, extra-nuclear	506						mitochondrion				ovary(2)|skin(1)	3						CTTAGGCCTCAGCCAGCTGCT	0.572													G	130760756	A	G	130760756	2	3	158	1	0	0	0	0	0	0	0	1	6818	175	7	3		3	GSDMC	8	130760756	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	4726714	130760756	15603266	1345	85126											
ADCY8	114	broad.mit.edu	37	chr8	131792713	131792713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgacaacaaagtccgccGgttgtaatgacccttgatga	12	9	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:131792713G>A	uc003ytd.3	-	18	3935	c.3679C>T	c.(3679-3681)CGG>TGG	p.R1227W	ADCY8_uc010mds.2_Missense_Mutation_p.R1096W	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	1227	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAAGTCCGCCGGTTGTAATGA	0.493										HNSCC(32;0.087)			A	131792713	G	A	131792713	3	1	158	1	0	0	0	0	1	0	0	0	300	1115	39	1	80	1	ADCY8	8	131792713	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1031957	131792713	14571309	1346	85127											
KCNQ3	3786	broad.mit.edu	37	chr8	133142016	133142016	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccataggggctgactttgtcAatggtcacctggtggaagct	13	9	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:133142016A>G	uc003ytj.2	-	15	2337	c.2112T>C	c.(2110-2112)ATT>ATC	p.I704I	KCNQ3_uc010mdt.2_Silent_p.I692I	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	704					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGACTTTGTCAATGGTCACCT	0.532													G	133142016	A	G	133142016	2	3	158	1	0	0	0	0	0	0	0	1	8084	126	5	3		3	KCNQ3	8	133142016	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1349303	133142016	13222006	1347	85128											
TG	7038	broad.mit.edu	37	chr8	133900795	133900795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaggaatgcggtctgagCcaagcaagctcccaacatgt	12	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:133900795C>T	uc003ytw.2	+	10	2784	c.2743C>T	c.(2743-2745)CCA>TCA	p.P915S		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	915	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCGGTCTGAGCCAAGCAAGCT	0.378													T	133900795	C	T	133900795	3	4	158	1	0	0	0	0	1	0	0	0	15810	739	26	2	2781	2	TG	8	133900795	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	758779	133900795	12463227	1348	85129											
TG	7038	broad.mit.edu	37	chr8	133909917	133909917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagcttctatcagagacgcCgcttttccccggacgactcg	9	14	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:133909917C>T	uc003ytw.2	+	12	3066	c.3025C>T	c.(3025-3027)CGC>TGC	p.R1009C	TG_uc010mdw.2_5'UTR	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1009	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCAGAGACGCCGCTTTTCCCC	0.567													T	133909917	C	T	133909917	3	4	158	1	0	0	0	0	1	0	0	0	15810	652	23	1	3071	1	TG	8	133909917	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	9122	133909917	12454105	1349	85130											
TG	7038	broad.mit.edu	37	chr8	133925436	133925436	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccactttggcacctctcccaGgacatggtttgggtgctcgg	12	13	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:133925436G>T	uc003ytw.2	+	20	4345	c.4304G>T	c.(4303-4305)AGG>ATG	p.R1435M	TG_uc010mdw.2_Missense_Mutation_p.R194M	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1435					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACCTCTCCCAGGACATGGTTT	0.562													T	133925436	G	T	133925436	3	4	158	1	0	0	0	0	1	0	0	0	15810	1000	35	5	4382	5	TG	8	133925436	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	15519	133925436	12438586	1350	85131											
TG	7038	broad.mit.edu	37	chr8	133961176	133961176	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tattgcgtcttggagaccagGagttcatcaagagtaagtct	11	7	4	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:133961176G>T	uc003ytw.2	+	27	5430	c.5389G>T	c.(5389-5391)GAG>TAG	p.E1797*	TG_uc010mdw.2_Nonsense_Mutation_p.E556*|TG_uc011ljb.1_Nonsense_Mutation_p.E166*	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1797	Type IIIB.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGAGACCAGGAGTTCATCAA	0.473													T	133961176	G	T	133961176	4	4	158	1	0	0	0	0	0	1	0	0	15810	1175	41	5	5495	5	TG	8	133961176	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	35740	133961176	12402846	1351	85132											
FAM135B	51059	broad.mit.edu	37	chr8	139164310	139164310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggaaccttggctcttgCtgtgcatatctgaaggttca	12	9	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:139164310C>T	uc003yuy.2	-	13	2579	c.2408G>A	c.(2407-2409)AGC>AAC	p.S803N	FAM135B_uc003yux.2_Missense_Mutation_p.S704N|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.S365N|FAM135B_uc003yvb.2_Missense_Mutation_p.S365N	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	803										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTGGCTCTTGCTGTGCATATC	0.517										HNSCC(54;0.14)			T	139164310	C	T	139164310	3	4	158	1	0	0	0	0	1	0	0	0	5449	797	28	2	1844	2	FAM135B	8	139164310	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	5203134	139164310	7199712	1352	85133											
COL22A1	169044	broad.mit.edu	37	chr8	139890450	139890450	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggtcggggcccacctcgaaGgtgtccaccaggttggccac	14	15	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:139890450G>T	uc003yvd.2	-	3	648	c.201C>A	c.(199-201)ACC>ACA	p.T67T		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	67	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCACCTCGAAGGTGTCCACCA	0.657										HNSCC(7;0.00092)			T	139890450	G	T	139890450	2	4	158	1	0	0	0	0	0	0	0	1	3681	987	35	5		5	COL22A1	8	139890450	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	726140	139890450	6473572	1353	85134											
TRAPPC9	83696	broad.mit.edu	37	chr8	141461249	141461249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaggcccacgactttgCggtgggtctggaagtcaccc	14	11	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:141461249C>T	uc003yvj.2	-	2	358	c.224G>A	c.(223-225)CGC>CAC	p.R75H	TRAPPC9_uc003yvh.2_Missense_Mutation_p.R173H|TRAPPC9_uc003yvi.1_Missense_Mutation_p.R75H	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	75					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						CACGACTTTGCGGTGGGTCTG	0.587													T	141461249	C	T	141461249	3	4	158	1	0	0	0	0	1	0	0	0	16462	768	27	1	3310	1	TRAPPC9	8	141461249	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1570799	141461249	4902773	1354	85135											
EIF2C2	27161	broad.mit.edu	37	chr8	141554345	141554346	+	Frame_Shift_Ins	INS	-	-	G													gcttcttcccatccccggcgINSggggggtgagtgacgtctgc					rs148575703	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:141554344_141554345C>CG	uc003yvn.3	-	13	1847_1848	c.1806_1807G>CG	c.(1804-1809)cccgccfs	p.P602fs	EIF2C2_uc010meo.3_Frame_Shift_Ins_p.P602fs|EIF2C2_uc010men.3_Frame_Shift_Ins_p.P525fs	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	602	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			CCATCCCCGGCGGGGGGGTGAG	0.644													G	141554346	-	G	141554345	7	5	158	1	0	1	1	0	0	0	0	0	5006	1103	39	0	797	0	EIF2C2	8	141554345	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	93096	141554345	4809677	1355	85136											
DENND3	22898	broad.mit.edu	37	chr8	142176477	142176477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaccgcaggctgtagggGcagcagcgcaggtgagggct	19	10	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:142176477G>A	uc003yvy.2	+	12	1780	c.1502G>A	c.(1501-1503)GGC>GAC	p.G501D	DENND3_uc010mep.2_Missense_Mutation_p.G462D|DENND3_uc003yvz.1_Missense_Mutation_p.G185D	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	501										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCTGTAGGGGCAGCAGCGCA	0.622													A	142176477	G	A	142176477	3	1	158	1	0	0	0	0	1	0	0	0	4432	1203	42	2	1544	2	DENND3	8	142176477	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	622132	142176477	4187545	1356	85137											
ZC3H3	23144	broad.mit.edu	37	chr8	144550640	144550640	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagcggttgtagtacatgcAgtactccttcctcttctccc	8	13	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:144550640A>C	uc003yyd.2	-	7	2046	c.2017T>G	c.(2017-2019)TGC>GGC	p.C673G		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	673	C3H1-type 1.				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TAGTACATGCAGTACTCCTTC	0.667													C	144550640	A	C	144550640	3	2	158	1	0	0	0	0	1	0	0	0	17566	188	7	5	853	5	ZC3H3	8	144550640	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	2374163	144550640	1813382	1357	85138											
PYCRL	65263	broad.mit.edu	37	chr8	144688837	144688837	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccgcagcacccgtgtgtTtgggggcagcagctggccag	16	13	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:144688837T>G	uc003yyy.2	-	4	395	c.385A>C	c.(385-387)AAC>CAC	p.N129H	PYCRL_uc011lkm.1_Intron|PYCRL_uc011lkn.1_RNA	NM_023078	NP_075566	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	117					proline biosynthetic process		pyrroline-5-carboxylate reductase activity				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ACCCGTGTGTTTGGGGGCAGC	0.667													G	144688837	T	G	144688837	3	3	158	1	0	0	0	0	1	0	0	0	12857	1841	64	5	487	5	PYCRL	8	144688837	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	138197	144688837	1675185	1358	85139											
FAM83H	286077	broad.mit.edu	37	chr8	144810228	144810228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgaacaggccttgcgggCgcgccggcgtgagctgcggg	18	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:144810228C>T	uc003yzk.2	-	5	1472	c.1403G>A	c.(1402-1404)CGC>CAC	p.R468H	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	468					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCTTGCGGGCGCGCCGGCGT	0.706													T	144810228	C	T	144810228	3	4	158	1	0	0	0	0	1	0	0	0	5640	768	27	1	2140	1	FAM83H	8	144810228	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	121391	144810228	1553794	1359	85140											
SCRIB	23513	broad.mit.edu	37	chr8	144874553	144874554	+	Frame_Shift_Ins	INS	-	-	C													ggggcgccacctcccaggggINStgggggggacgccgggctct					rs6991873	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:144874553_144874554insC	uc003yzp.1	-	32	4357_4358	c.4350_4351insG	c.(4348-4353)CCGCCCfs	p.P1450fs	SCRIB_uc003yzn.1_Frame_Shift_Ins_p.P183fs|SCRIB_uc003yzo.1_Frame_Shift_Ins_p.P1450fs	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1450_1451					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCTCCCAGGGGTGGGGGGGACG	0.752													C	144874554	-	C	144874553	7	5	158	1	0	1	1	0	0	0	0	0	13937	1261	44	0	640	0	SCRIB	8	144874553	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	64325	144874553	1489469	1360	85141											
SCRIB	23513	broad.mit.edu	37	chr8	144891172	144891172	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatccccgggcagcagtgcGtcctctgcgaaatgcaccgt	11	15	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:144891172G>A	uc003yzp.1	-	15	1729	c.1722C>T	c.(1720-1722)GAC>GAT	p.D574D	SCRIB_uc003yzo.1_Silent_p.D574D	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	574	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCAGCAGTGCGTCCTCTGCGA	0.652													A	144891172	G	A	144891172	2	1	158	1	0	0	0	0	0	0	0	1	13937	1136	40	1		1	SCRIB	8	144891172	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	16619	144891172	1472850	1361	85142											
EPPK1	83481	broad.mit.edu	37	chr8	144942815	144942815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcctgctgatcagctgcGccctgaacaggtccctggct	10	15	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:144942815G>A	uc003zaa.1	-	1	4620	c.4607C>T	c.(4606-4608)GCG>GTG	p.A1536V		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1536						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GATCAGCTGCGCCCTGAACAG	0.652													A	144942815	G	A	144942815	3	1	158	1	0	0	0	0	1	0	0	0	5190	1087	38	1	2659	1	EPPK1	8	144942815	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	51643	144942815	1421207	1362	85143											
PLEC	5339	broad.mit.edu	37	chr8	144993438	144993438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtacgtgaggttctcatgCgtgttggggtcaaagaagcc	14	8	2	2	rs116901140	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:144993438C>T	uc003zaf.1	-	32	11132	c.10962G>A	c.(10960-10962)ACG>ACA	p.T3654T	PLEC_uc003zab.1_Silent_p.T3517T|PLEC_uc003zac.1_Silent_p.T3521T|PLEC_uc003zad.2_Silent_p.T3517T|PLEC_uc003zae.1_Silent_p.T3485T|PLEC_uc003zag.1_Silent_p.T3495T|PLEC_uc003zah.2_Silent_p.T3503T|PLEC_uc003zaj.2_Silent_p.T3544T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3654	Globular 2.|Plectin 16.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GGTTCTCATGCGTGTTGGGGT	0.642													T	144993438	C	T	144993438	2	4	158	1	0	0	0	0	0	0	0	1	12052	755	27	1		1	PLEC	8	144993438	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	50623	144993438	1370584	1363	85144											
PLEC	5339	broad.mit.edu	37	chr8	144993811	144993811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaggaagccagtggccGcctgcgcctccagcaggagc	13	17	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:144993811G>A	uc003zaf.1	-	32	10759	c.10589C>T	c.(10588-10590)GCG>GTG	p.A3530V	PLEC_uc003zab.1_Missense_Mutation_p.A3393V|PLEC_uc003zac.1_Missense_Mutation_p.A3397V|PLEC_uc003zad.2_Missense_Mutation_p.A3393V|PLEC_uc003zae.1_Missense_Mutation_p.A3361V|PLEC_uc003zag.1_Missense_Mutation_p.A3371V|PLEC_uc003zah.2_Missense_Mutation_p.A3379V|PLEC_uc003zaj.2_Missense_Mutation_p.A3420V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3530	Plectin 13.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCCAGTGGCCGCCTGCGCCTC	0.677													A	144993811	G	A	144993811	3	1	158	1	0	0	0	0	1	0	0	0	12052	1087	38	1	3469	1	PLEC	8	144993811	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	373	144993811	1370211	1364	85145											
PLEC	5339	broad.mit.edu	37	chr8	144995199	144995199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctctgccgtgaagtattcCgagttgatgatctcccaaat	9	10	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:144995199C>T	uc003zaf.1	-	32	9371	c.9201G>A	c.(9199-9201)TCG>TCA	p.S3067S	PLEC_uc003zab.1_Silent_p.S2930S|PLEC_uc003zac.1_Silent_p.S2934S|PLEC_uc003zad.2_Silent_p.S2930S|PLEC_uc003zae.1_Silent_p.S2898S|PLEC_uc003zag.1_Silent_p.S2908S|PLEC_uc003zah.2_Silent_p.S2916S|PLEC_uc003zaj.2_Silent_p.S2957S	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3067	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TGAAGTATTCCGAGTTGATGA	0.602													T	144995199	C	T	144995199	2	4	158	1	0	0	0	0	0	0	0	1	12052	639	23	1		1	PLEC	8	144995199	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1388	144995199	1368823	1365	85146											
PLEC	5339	broad.mit.edu	37	chr8	144995468	144995468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggggtccgccaggacgcGgttcatctcctcgtcgaagt	14	13	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:144995468G>A	uc003zaf.1	-	32	9102	c.8932C>T	c.(8932-8934)CGC>TGC	p.R2978C	PLEC_uc003zab.1_Missense_Mutation_p.R2841C|PLEC_uc003zac.1_Missense_Mutation_p.R2845C|PLEC_uc003zad.2_Missense_Mutation_p.R2841C|PLEC_uc003zae.1_Missense_Mutation_p.R2809C|PLEC_uc003zag.1_Missense_Mutation_p.R2819C|PLEC_uc003zah.2_Missense_Mutation_p.R2827C|PLEC_uc003zaj.2_Missense_Mutation_p.R2868C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2978	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCCAGGACGCGGTTCATCTCC	0.672													A	144995468	G	A	144995468	3	1	158	1	0	0	0	0	1	0	0	0	12052	1116	39	1	5126	1	PLEC	8	144995468	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	269	144995468	1368554	1366	85147											
GRINA	2907	broad.mit.edu	37	chr8	145065770	145065771	+	Splice_Site	DEL	TG	TG	-													tcccaggacaagaccctgacTgtgagtctcaggaagggagg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:145065769_145065770CTG>C	uc003zan.1	+	2	545	c.379_splice	c.e2+1	p.S127_splice	GRINA_uc003zao.1_Splice_Site_p.S127_splice|GRINA_uc003zap.1_Splice_Site_p.S127_splice	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA.	127	Pro-rich.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AAGACCCTGACTGTGAGTCTCA	0.663													-	145065771	TG	-	145065770	8	5	158	1	0	1	0	1	0	0	1	0	6785	1594	55	0	381	0	GRINA	8	145065770	Splice_Site	DEL	TG	TCGA-CD-A4MG-01A-11D-A25D-08	70302	145065770	1298252	1367	85148											
SPATC1	375686	broad.mit.edu	37	chr8	145095886	145095886	+	Frame_Shift_Del	DEL	C	C	-													cccacctcgtacctcatcctCcccggcttcagtcaatgact							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:145095885_145095885TC>T	uc011lkw.2	+	2	1285	c.1183_1183TC>T	c.(1183-1185)tccfs	p.S395fs	SPATC1_uc011lkx.2_Frame_Shift_Del_p.S395fs	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	395								p.N395K(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TACCTCATCCTCCCCGGCTTC	0.612													-	145095886	C	-	145095886	7	5	158	1	0	1	0	1	0	0	0	0	15016	855	30	0	1194	0	SPATC1	8	145095886	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	30116	145095886	1268136	1368	85149											
OPLAH	26873	broad.mit.edu	37	chr8	145110070	145110070	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtggagatggctgtgcgCtgcaggatgcggcccatctg	17	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:145110070C>T	uc003zar.3	-	17	2353	c.2271G>A	c.(2269-2271)CAG>CAA	p.Q757Q	OPLAH_uc003zas.1_Silent_p.Q6Q	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	757							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TGGCTGTGCGCTGCAGGATGC	0.647													T	145110070	C	T	145110070	2	4	158	1	0	0	0	0	0	0	0	1	10876	796	28	2		2	OPLAH	8	145110070	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	14184	145110070	1253952	1369	85150											
OPLAH	26873	broad.mit.edu	37	chr8	145111623	145111623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagtccgtgccctggtagCgcaggtgcaggaagctctca	13	13	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:145111623C>T	uc003zar.3	-	13	1824	c.1742G>A	c.(1741-1743)CGC>CAC	p.R581H	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	581							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GCCCTGGTAGCGCAGGTGCAG	0.682													T	145111623	C	T	145111623	3	4	158	1	0	0	0	0	1	0	0	0	10876	768	27	1	2186	1	OPLAH	8	145111623	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1553	145111623	1252399	1370	85151											
GPAA1	8733	broad.mit.edu	37	chr8	145139149	145139149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccgtggaggggcttaaCgggcagctgcccaaccttga	16	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:145139149C>T	uc003zax.2	+	6	839	c.729C>T	c.(727-729)AAC>AAT	p.N243N	GPAA1_uc003zav.1_Silent_p.N121N|GPAA1_uc003zaw.1_Silent_p.N183N	NM_003801	NP_003792	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment	243	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGGGCTTAACGGGCAGCTGC	0.647													T	145139149	C	T	145139149	2	4	158	1	0	0	0	0	0	0	0	1	6587	535	19	1		1	GPAA1	8	145139149	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	27526	145139149	1224873	1371	85152											
GPAA1	8733	broad.mit.edu	37	chr8	145139362	145139362	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatggaccgctgcagggccTgcagacactgctgctcatgg	15	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:145139362T>C	uc003zax.2	+	7	970	c.860T>C	c.(859-861)CTG>CCG	p.L287P	GPAA1_uc003zav.1_Missense_Mutation_p.L165P|GPAA1_uc003zaw.1_Missense_Mutation_p.L227P	NM_003801	NP_003792	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment	287	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGCAGGGCCTGCAGACACTG	0.652													C	145139362	T	C	145139362	3	2	158	1	0	0	0	0	1	0	0	0	6587	1580	55	3	886	3	GPAA1	8	145139362	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	213	145139362	1224660	1372	85153											
CYHR1	50626	broad.mit.edu	37	chr8	145689987	145689987	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaagccagcagcagccccTcgacttgcctgtcaacacag	10	15	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:145689987T>C	uc003zcv.2	-	2	236	c.102A>G	c.(100-102)CGA>CGG	p.R34R	CYHR1_uc003zcw.2_Silent_p.R34R|CYHR1_uc003zcx.2_Silent_p.R34R|CYHR1_uc003zcy.2_Silent_p.R34R|KIFC2_uc003zcz.2_5'Flank	NM_138496	NP_612505	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1 isoform 1	34						perinuclear region of cytoplasm	zinc ion binding				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CAGCAGCCCCTCGACTTGCCT	0.612													C	145689987	T	C	145689987	2	2	158	1	0	0	0	0	0	0	0	1	4140	1538	54	3		3	CYHR1	8	145689987	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	550625	145689987	674035	1373	85154											
MFSD3	113655	broad.mit.edu	37	chr8	145735838	145735838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatggtgtgggtgctgtgGtctgctccatcgctggctcc	16	10	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:145735838G>A	uc003zdi.1	+	2	943	c.778G>A	c.(778-780)GTC>ATC	p.V260I		NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing	260	Leu-rich.|Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(2)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGGTGCTGTGGTCTGCTCCAT	0.632													A	145735838	G	A	145735838	3	1	158	1	0	0	0	0	1	0	0	0	9532	1261	44	4	784	4	MFSD3	8	145735838	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	45851	145735838	628184	1374	85155											
KANK1	23189	broad.mit.edu	37	chr9	712285	712285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttgacaaagccacgatgGcccagccgcttgttttcagt	11	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:712285G>A	uc003zgl.1	+	7	2168	c.1519G>A	c.(1519-1521)GCC>ACC	p.A507T	KANK1_uc003zgm.2_Missense_Mutation_p.A507T|KANK1_uc003zgn.1_Missense_Mutation_p.A507T|KANK1_uc003zgo.1_Missense_Mutation_p.A507T|KANK1_uc003zgp.1_Missense_Mutation_p.A507T|KANK1_uc003zgq.2_Missense_Mutation_p.A349T|KANK1_uc003zgr.1_Missense_Mutation_p.A349T|KANK1_uc003zgs.1_Missense_Mutation_p.A349T	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	507					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AGCCACGATGGCCCAGCCGCT	0.537													A	712285	G	A	712285	3	1	158	1	0	0	0	0	1	0	0	0	7976	1203	42	2	1525	2	KANK1	9	712285	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08		712285	140501146	1375	85156											
KCNV2	169522	broad.mit.edu	37	chr9	2718054	2718054	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatgtgaacgtgggtggCcacagctaccagctggacta	13	10	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:2718054C>T	uc003zho.1	+	1	529	c.315C>T	c.(313-315)GGC>GGT	p.G105G		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	105	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		ACGTGGGTGGCCACAGCTACC	0.687													T	2718054	C	T	2718054	2	4	158	1	0	0	0	0	0	0	0	1	8095	726	26	2		2	KCNV2	9	2718054	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2005769	2718054	138495377	1376	85157											
JAK2	3717	broad.mit.edu	37	chr9	5077560	5077560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagttgctaaacagttgGcatgggccatgcattttcta	10	7	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:5077560G>A	uc010mhm.2	+	14	2085	c.1972G>A	c.(1972-1974)GCA>ACA	p.A658T	JAK2_uc003ziw.2_Missense_Mutation_p.A658T	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	658	Protein kinase 1.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TAAACAGTTGGCATGGGCCAT	0.269		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				A	5077560	G	A	5077560	3	1	158	1	0	0	0	0	1	0	0	0	7938	1203	42	2	2022	2	JAK2	9	5077560	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2359506	5077560	136135871	1377	85158											
INSL6	11172	broad.mit.edu	37	chr9	5185415	5185415	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgaggcctgtgcaatcaacCgtgagaaaggggtttcctcc	12	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:5185415C>A	uc003zix.2	-	1	204	c.188G>T	c.(187-189)CGG>CTG	p.R63L		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	insulin-like 6 precursor	63						extracellular region	hormone activity				0	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		TGCAATCAACCGTGAGAAAGG	0.567													A	5185415	C	A	5185415	3	1	158	1	0	0	0	0	1	0	0	0	7770	652	23	5	461	5	INSL6	9	5185415	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	107855	5185415	136028016	1378	85159											
KIAA1432	57589	broad.mit.edu	37	chr9	5743013	5743013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacacttggaggagattttgCgtaagtcaaaaaagacaatt	9	5	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:5743013C>T	uc003zji.2	+	8	902	c.809C>T	c.(808-810)GCT>GTT	p.A270V	KIAA1432_uc003zjh.2_Missense_Mutation_p.A270V|KIAA1432_uc003zjl.3_Missense_Mutation_p.A270V|KIAA1432_uc003zjj.1_5'UTR	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN	connexin 43-interacting protein 150 isoform a	349						integral to membrane					0		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GGAGATTTTGCGTAAGTCAAA	0.378													T	5743013	C	T	5743013	3	4	158	1	0	0	0	0	1	0	0	0	8233	782	27	1	839	1	KIAA1432	9	5743013	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	557598	5743013	135470418	1379	85160											
ERMP1	79956	broad.mit.edu	37	chr9	5801227	5801227	+	Frame_Shift_Del	DEL	A	A	-													gcaggattggagctatatggAaaaaatgttccactgcaaac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:5801226_5801226GA>G	uc003zjm.1	-	10	2071	c.2017_2017TC>C	c.(2017-2019)ccafs	p.P673fs	ERMP1_uc022bdc.1_Non-coding_Transcript|ERMP1_uc022bdd.1_Non-coding_Transcript|ERMP1_uc010mhs.1_Frame_Shift_Del_p.P287fs	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	Homo sapiens endoplasmic reticulum metallopeptidase 1 (ERMP1), mRNA.	673					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		GAGCTATATGGAAAAAATGTT	0.403													-	5801227	A	-	5801227	7	5	158	1	0	1	0	1	0	0	0	0	5236	243	9	0	718	0	ERMP1	9	5801227	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	58214	5801227	135412204	1380	85161											
PTPRD	5789	broad.mit.edu	37	chr9	8633359	8633359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatacacttatttctcccaCattatttgaggccacacatt	5	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:8633359C>T	uc003zkk.2	-	13	1021	c.310G>A	c.(310-312)GTG>ATG	p.V104M	PTPRD_uc003zkp.2_Missense_Mutation_p.V104M|PTPRD_uc003zkq.2_Missense_Mutation_p.V104M|PTPRD_uc003zkr.2_Missense_Mutation_p.V104M|PTPRD_uc003zks.2_Missense_Mutation_p.V104M|PTPRD_uc003zkl.2_Missense_Mutation_p.V104M|PTPRD_uc003zkm.2_Missense_Mutation_p.V104M|PTPRD_uc003zkn.2_Missense_Mutation_p.V104M|PTPRD_uc003zko.2_Missense_Mutation_p.V104M|PTPRD_uc003zkt.1_Missense_Mutation_p.V104M	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	104	Ig-like C2-type 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATTTCTCCCACATTATTTGAG	0.433										TSP Lung(15;0.13)			T	8633359	C	T	8633359	3	4	158	1	0	0	0	0	1	0	0	0	12799	478	17	4	5628	4	PTPRD	9	8633359	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2832132	8633359	132580072	1381	85162											
C9orf150	286343	broad.mit.edu	37	chr9	12775777	12775777	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctggggcgcaaagtaccCgagagtctagtgcgctctct	13	11	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:12775777C>T	uc003zkw.2	+	1	766	c.63C>T	c.(61-63)CCC>CCT	p.P21P		NM_203403	NP_981948	Q8IV03	CI150_HUMAN	hypothetical protein LOC286343	21											0				GBM - Glioblastoma multiforme(1;1.64e-13)		GCAAAGTACCCGAGAGTCTAG	0.517													T	12775777	C	T	12775777	2	4	158	1	0	0	0	0	0	0	0	1	2462	639	23	1		1	C9orf150	9	12775777	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	4142418	12775777	128437654	1382	85163											
SNAPC3	6619	broad.mit.edu	37	chr9	15423075	15423075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttgtcgctgagggagccGccggcatccgctctgcctgg	15	14	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:15423075G>A	uc003zlt.2	+	1	294	c.198G>A	c.(196-198)CCG>CCA	p.P66P	SNAPC3_uc011lmt.1_Silent_p.P66P|SNAPC3_uc003zlu.2_RNA	NM_001039697	NP_001034786	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex,	66					regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding				0				GBM - Glioblastoma multiforme(50;2.15e-06)		TGAGGGAGCCGCCGGCATCCG	0.711													A	15423075	G	A	15423075	2	1	158	1	0	0	0	0	0	0	0	1	14836	1074	38	1		1	SNAPC3	9	15423075	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2647298	15423075	125790356	1383	85164											
BNC2	54796	broad.mit.edu	37	chr9	16419430	16419430	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccatgtagtcctctgccaTgcctctcccatacccgttca	6	17	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:16419430T>C	uc003zml.2	-	7	2997	c.2857A>G	c.(2857-2859)ATG>GTG	p.M953V	BNC2_uc011lmw.1_Missense_Mutation_p.M858V|BNC2_uc003zmm.2_3'UTR|BNC2_uc011lmv.1_3'UTR|BNC2_uc003zmj.2_3'UTR|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.M740V	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	953					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		TCCTCTGCCATGCCTCTCCCA	0.592													C	16419430	T	C	16419430	3	2	158	1	0	0	0	0	1	0	0	0	1475	1464	51	3	446	3	BNC2	9	16419430	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	996355	16419430	124794001	1384	85165											
BNC2	54796	broad.mit.edu	37	chr9	16436043	16436043	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcatagtcccgctcaggttCttggtcttcagaagtcatgc	9	12	6	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:16436043C>T	uc003zml.2	-	6	2289	c.2149G>A	c.(2149-2151)GAA>AAA	p.E717K	BNC2_uc011lmw.1_Missense_Mutation_p.E622K|BNC2_uc003zmm.2_Missense_Mutation_p.E675K|BNC2_uc003zmq.1_Missense_Mutation_p.E731K|BNC2_uc003zmr.1_Missense_Mutation_p.E754K|BNC2_uc003zmp.1_Missense_Mutation_p.E745K|BNC2_uc010mij.1_Missense_Mutation_p.E639K|BNC2_uc011lmv.1_Missense_Mutation_p.E543K|BNC2_uc003zmo.1_Missense_Mutation_p.E639K|BNC2_uc003zmj.2_Missense_Mutation_p.E482K|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.E482K|BNC2_uc003zmn.1_Missense_Mutation_p.E482K	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	717					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		CGCTCAGGTTCTTGGTCTTCA	0.517													T	16436043	C	T	16436043	3	4	158	1	0	0	0	0	1	0	0	0	1475	922	32	4	1158	4	BNC2	9	16436043	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	16613	16436043	124777388	1385	85166											
MLLT3	4300	broad.mit.edu	37	chr9	20414313	20414313	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctactgctgctgctactGctgctgctgctgctgctgct	11	14	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:20414313G>A	uc003zoe.2	-	5	790	c.531C>T	c.(529-531)AGC>AGT	p.S177S	MLLT3_uc011lne.1_Silent_p.S145S|MLLT3_uc011lnf.1_Silent_p.S174S|MLLT3_uc003zof.2_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	177	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.134			T	MLL	ALL								A	20414313	G	A	20414313	2	1	158	1	0	0	0	0	0	0	0	1	9628	1310	46	2		2	MLLT3	9	20414313	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3978270	20414313	120799118	1386	85167											
IFNA6	3443	broad.mit.edu	37	chr9	21350820	21350820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtctgaggcagatcacagtCcagagagcagcttgacttgc	13	10	2	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:21350820C>T	uc011lni.1	-	1	67	c.67G>A	c.(67-69)GAC>AAC	p.D23N		NM_021002	NP_066282	P05013	IFNA6_HUMAN	interferon, alpha 6 precursor	23					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AGATCACAGTCCAGAGAGCAG	0.517													T	21350820	C	T	21350820	3	4	158	1	0	0	0	0	1	0	0	0	7541	855	30	4	504	4	IFNA6	9	21350820	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	936507	21350820	119862611	1387	85168											
CDKN2A	1029	broad.mit.edu	37	chr9	21971139	21971139	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggtgagagtggcggggtcGgcgcagttgggctccgcgcc	21	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:21971139G>T	uc003zpk.2	-	2	431	c.219C>A	c.(217-219)GCC>GCA	p.A73A	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.R129R	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	73					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(13)|p.A73G(1)|p.A73A(1)|p.L65fs*38(1)|p.A73T(1)|p.V59fs*45(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.A73P(1)|p.A73S(1)|p.C72fs*71(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGGCGGGGTCGGCGCAGTTGG	0.711		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			T	21971139	G	T	21971139	2	4	158	1	0	0	0	0	0	0	0	1	3161	1124	39	5		5	CDKN2A	9	21971139	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	620319	21971139	119242292	1388	85169											
IFT74	80173	broad.mit.edu	37	chr9	26984558	26984558	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactagcagactacaacatgGtattttatcttttctaagag	6	7	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:26984558G>A	uc010mja.2	+	6	592	c.465_splice	c.e6+1	p.M155_splice	IFT74_uc010mjb.2_Splice_Site_p.M155_splice|IFT74_uc003zqf.3_Splice_Site_p.M155_splice|IFT74_uc003zqg.3_Splice_Site_p.M155_splice	NM_001099223	NP_001092693	Q96LB3	IFT74_HUMAN	coiled-coil domain containing 2 isoform a							cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				skin(1)	1		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		CTACAACATGGTATTTTATCT	0.239													A	26984558	G	A	26984558	5	1	158	1	0	0	0	0	0	0	1	0	7563	1275	44	4	484	4	IFT74	9	26984558	Splice_Site	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	5013419	26984558	114228873	1389	85170											
C9orf11	54586	broad.mit.edu	37	chr9	27296739	27296739	+	Splice_Site	DEL	A	A	-													gtagcacattaggcaatgctAaaaaaaagtatcacacacca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:27296738_27296738TA>T	uc003zql.3	-	2	161	c.77_splice	c.e2-1	p.A26_splice	C9orf11_uc011lnq.2_Splice_Site_p.A26_splice|C9orf11_uc003zqm.3_Splice_Site_p.A26_splice	NM_020641	NP_065692	Q9NQ60	AFAF_HUMAN	Homo sapiens chromosome 9 open reading frame 11 (C9orf11), transcript variant 1, mRNA.	26						acrosomal membrane|integral to membrane				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	17				OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106)		TAGGCAATGCTAAAAAAAAGT	0.323													-	27296739	A	-	27296739	8	5	158	1	0	1	0	1	0	0	1	0	2448	377	13	0		0	C9orf11	9	27296739	Splice_Site	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	312181	27296739	113916692	1390	85171											
CHMP5	51510	broad.mit.edu	37	chr9	33264393	33264393	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtcgcttcctcactcaGggtcaactcctcgctccggg	10	17	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:33264393G>T	uc003zsl.3	+	1	227	c.-128G>T	c.(-130--126)CAGGG>CATGG		SUGT1P1_uc010mjq.1_Intron|BAG1_uc003zsi.2_Intron|BAG1_uc003zsj.2_Missense_Mutation_p.L94M|BAG1_uc003zsk.2_Translation_Start_Site|CHMP5_uc003zsm.3_5'Flank|CHMP5_uc011lnv.1_5'Flank	NM_016410	NP_057494	Q9NZZ3	CHMP5_HUMAN	chromatin modifying protein 5						cellular membrane organization|protein transport	cytosol|endosome membrane	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			TCCTCACTCAGGGTCAACTCC	0.682													T	33264393	G	T	33264393	1	4	158	1	0	0	0	0	0	0	0	0	3359	991	35	5		5	CHMP5	9	33264393	Translation_Start_Site	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	5967654	33264393	107949038	1391	85172											
NOL6	65083	broad.mit.edu	37	chr9	33466935	33466935	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggccttggataagtgcaTccagggggccccccacatag	12	13	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:33466935T>C	uc003zsz.2	-	15	2026	c.1925A>G	c.(1924-1926)GAT>GGT	p.D642G	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Missense_Mutation_p.D642G|NOL6_uc010mjv.2_Missense_Mutation_p.D639G|NOL6_uc011lob.1_Missense_Mutation_p.D590G|NOL6_uc003ztb.1_Missense_Mutation_p.D642G	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	642					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GATAAGTGCATCCAGGGGGCC	0.527											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	33466935	T	C	33466935	3	2	158	1	0	0	0	0	1	0	0	0	10525	1435	50	3	1563	3	NOL6	9	33466935	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	202542	33466935	107746496	1392	85173											
KIAA1161	57462	broad.mit.edu	37	chr9	34372003	34372003	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggaccaaatggggtctcgGaaggcctcgggtgctggcac	17	10	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:34372003G>A	uc003zue.3	-	3	1106	c.939C>T	c.(937-939)TTC>TTT	p.F313F		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	313	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TGGGGTCTCGGAAGGCCTCGG	0.612													A	34372003	G	A	34372003	2	1	158	1	0	0	0	0	0	0	0	1	8211	1165	41	4		4	KIAA1161	9	34372003	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	905068	34372003	106841428	1393	85174											
C9orf25	203259	broad.mit.edu	37	chr9	34400994	34400994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcggtggaggacgtggCctggcagcacatgcacgtgg	19	10	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:34400994C>T	uc011lok.1	-	6	833	c.526G>A	c.(526-528)GCC>ACC	p.A176T	C9orf25_uc003zuj.2_Missense_Mutation_p.A159T|C9orf25_uc003zuk.2_Missense_Mutation_p.A148T|C9orf25_uc011lol.1_Missense_Mutation_p.A164T|C9orf25_uc003zul.2_Missense_Mutation_p.A147T	NM_147202	NP_671735	Q8IW50	CI025_HUMAN	hypothetical protein LOC203259	176											0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.0858)		GAGGACGTGGCCTGGCAGCAC	0.697													T	34400994	C	T	34400994	3	4	158	1	0	0	0	0	1	0	0	0	2476	739	26	2	35	2	C9orf25	9	34400994	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	28991	34400994	106812437	1394	85175											
TESK1	7016	broad.mit.edu	37	chr9	35606933	35606933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacattgcccgaggcctgCggtacctgcactccaaaggt	12	13	0	0	rs142996260	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:35606933C>T	uc003zxa.2	+	4	826	c.490C>T	c.(490-492)CGG>TGG	p.R164W	TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Silent_p.C31C	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	164	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGAGGCCTGCGGTACCTGCA	0.577													T	35606933	C	T	35606933	3	4	158	1	0	0	0	0	1	0	0	0	15764	759	27	1	504	1	TESK1	9	35606933	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1205939	35606933	105606498	1395	85176											
TPM2	7169	broad.mit.edu	37	chr9	35685730	35685730	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcccggtccagctcctcCtcaaccagctgaatgcggcg	12	16	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:35685730C>T	uc003zxq.2	-	3	527	c.288G>A	c.(286-288)GAG>GAA	p.E96E	TPM2_uc003zxr.2_Silent_p.E96E|TPM2_uc003zxs.2_Silent_p.E96E|TPM2_uc010mkz.2_Silent_p.E96E|TPM2_uc011lpa.1_Silent_p.E96E	NM_213674	NP_998839	P07951	TPM2_HUMAN	tropomyosin 2 (beta) isoform 2	96	By similarity.				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			ovary(1)	1	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCAGCTCCTCCTCAACCAGCT	0.627													T	35685730	C	T	35685730	2	4	158	1	0	0	0	0	0	0	0	1	16403	680	24	4		4	TPM2	9	35685730	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	78797	35685730	105527701	1396	85177											
FBXO10	26267	broad.mit.edu	37	chr9	37516037	37516037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttggcacggccccgcaCggcgatgccgtaggcccgga	16	16	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:37516037C>T	uc004aab.2	-	10	2609	c.2560G>A	c.(2560-2562)GTG>ATG	p.V854M	FBXO10_uc004aac.2_Missense_Mutation_p.V870M|FBXO10_uc004aad.2_Missense_Mutation_p.V404M	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	F-box protein 10	854	PbH1 17.					ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)		CGGCCCCGCACGGCGATGCCG	0.473													T	37516037	C	T	37516037	3	4	158	1	0	0	0	0	1	0	0	0	5726	536	19	1	318	1	FBXO10	9	37516037	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1830307	37516037	103697394	1397	85178											
ALDH1B1	219	broad.mit.edu	37	chr9	38396386	38396386	+	Frame_Shift_Del	DEL	C	C	-													tatgaaggtggcagagcagaCccccctctctgccctgtatt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:38396385_38396385AC>A	uc022bgy.1	+	0	640	c.640_640AC>A	c.(640-642)accfs	p.T214fs	ALDH1B1_uc004aay.3_Frame_Shift_Del_p.T214fs	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	214					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GGCAGAGCAGACCCCCCTCTC	0.597													-	38396386	C	-	38396386	7	5	158	1	0	1	0	1	0	0	0	0	493	507	18	0	643	0	ALDH1B1	9	38396386	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	880349	38396386	102817045	1398	85179											
PGM5	5239	broad.mit.edu	37	chr9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattattggacagaatggcAtcttgtcgacacctgcggtc	11	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478													G	70993145	A	G	70993145	3	3	158	1	0	0	0	0	1	0	0	0	11801	217	8	3	298	3	PGM5	9	70993145	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	32596759	70993145	70220286	1399	85180											
TJP2	9414	broad.mit.edu	37	chr9	71827467	71827467	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgttcttttaaaacaggccCcaggcatggaagagctgata	10	8	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:71827467C>A	uc004ahe.2	+	2	264	c.64C>A	c.(64-66)CCA>ACA	p.P22T	TJP2_uc011lrs.1_5'UTR|TJP2_uc004ahb.1_5'UTR|TJP2_uc011lrt.1_5'UTR|TJP2_uc004ahd.2_Missense_Mutation_p.P22T|TJP2_uc004ahf.2_Missense_Mutation_p.P22T|TJP2_uc011lru.1_Missense_Mutation_p.P26T|TJP2_uc011lrv.1_Missense_Mutation_p.P44T	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	22					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						AAAACAGGCCCCAGGCATGGA	0.378													A	71827467	C	A	71827467	3	1	158	1	0	0	0	0	1	0	0	0	15927	623	22	5	227	5	TJP2	9	71827467	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	834322	71827467	69385964	1400	85181											
APBA1	320	broad.mit.edu	37	chr9	72131216	72131216	+	Frame_Shift_Del	DEL	G	G	-													ggcgacccccggccggggtaGggggacgctccaggtcctgc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:72131216delG	uc004ahh.2	-	2	1187	c.911delC	c.(910-912)CCTfs	p.P304fs		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	304	Pro-rich.|Munc-18-1 binding.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						ggccggggTAGGGGGACGCTC	0.348													-	72131216	G	-	72131216	7	5	158	1	0	1	0	1	0	0	0	0	756	1000	35	0	1650	0	APBA1	9	72131216	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	303749	72131216	69082215	1401	85182											
TRPM3	80036	broad.mit.edu	37	chr9	73253991	73253991	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctaccgtattgtacaattcCtctagtctggagatggtgag	10	9	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:73253991C>A	uc004aid.2	-	11	1810	c.1566G>T	c.(1564-1566)GAG>GAT	p.E522D	TRPM3_uc004ahu.2_Missense_Mutation_p.E352D|TRPM3_uc004ahv.2_Intron|TRPM3_uc004ahw.2_Missense_Mutation_p.E394D|TRPM3_uc004ahx.2_Missense_Mutation_p.E369D|TRPM3_uc004ahy.2_Missense_Mutation_p.E394D|TRPM3_uc004ahz.2_Missense_Mutation_p.E369D|TRPM3_uc004aia.2_Missense_Mutation_p.E369D|TRPM3_uc004aib.2_Missense_Mutation_p.E369D|TRPM3_uc004aic.2_Missense_Mutation_p.E522D|TRPM3_uc010mor.2_Missense_Mutation_p.E522D	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	547	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						TGTACAATTCCTCTAGTCTGG	0.413													A	73253991	C	A	73253991	3	1	158	1	0	0	0	0	1	0	0	0	16584	680	24	5	3657	5	TRPM3	9	73253991	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1122775	73253991	67959440	1402	85183											
RORB	6096	broad.mit.edu	37	chr9	77112896	77112896	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagagcggccacaccatgCgaggtaagcgagtctgcggg	18	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:77112896C>T	uc004ajh.2	+	1	645	c.4C>T	c.(4-6)CGA>TGA	p.R2*		NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	Error:Variant_position_missing_in_Q92753_after_alignment					eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						CCACACCATGCGAGGTAAGCG	0.657													T	77112896	C	T	77112896	4	4	158	1	0	0	0	0	0	1	0	0	13529	760	27	1	6	1	RORB	9	77112896	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	3858905	77112896	64100535	1403	85184											
VPS13A	23230	broad.mit.edu	37	chr9	79853296	79853296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaatttcgcagtaagacaGcaacaggtaaatgccaatat	8	7	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:79853296G>A	uc004akr.2	+	19	2154	c.1894G>A	c.(1894-1896)GCA>ACA	p.A632T	VPS13A_uc004akp.3_Missense_Mutation_p.A632T|VPS13A_uc004akq.3_Missense_Mutation_p.A632T|VPS13A_uc004aks.2_Missense_Mutation_p.A632T	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	632					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						CAGTAAGACAGCAACAGGTAA	0.318													A	79853296	G	A	79853296	3	1	158	1	0	0	0	0	1	0	0	0	17186	971	34	2	1968	2	VPS13A	9	79853296	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2740400	79853296	61360135	1404	85185											
PSAT1	29968	broad.mit.edu	37	chr9	80923424	80923424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgctggggtttgccctccGagagtgcccctcggtcctgg	14	15	0	1	rs114496656	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:80923424G>A	uc004ala.2	+	6	733	c.665G>A	c.(664-666)CGA>CAA	p.R222Q	PSAT1_uc004alb.2_Missense_Mutation_p.R222Q	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1 isoform 1	222					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	TTTGCCCTCCGAGAGTGCCCC	0.537													A	80923424	G	A	80923424	3	1	158	1	0	0	0	0	1	0	0	0	12644	1058	37	1	687	1	PSAT1	9	80923424	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1070128	80923424	60290007	1405	85186											
KIF27	55582	broad.mit.edu	37	chr9	86503402	86503402	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatttaagaagatctatgtAccttcattctccaaatctga	4	8	4	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:86503402A>G	uc004ana.2	-	8	2227	c.2083_splice	c.e8+1	p.D695_splice	KIF27_uc010mpw.2_Splice_Site_p.D695_splice|KIF27_uc010mpx.2_Splice_Site_p.D695_splice	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27						cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						AGATCTATGTACCTTCATTCT	0.358													G	86503402	A	G	86503402	5	3	158	1	0	0	0	0	0	0	1	0	8296	405	14	3	2164	3	KIF27	9	86503402	Splice_Site	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	5579978	86503402	54710029	1406	85187											
NTRK2	4915	broad.mit.edu	37	chr9	87570335	87570335	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacttcgtgcaccgcgAtttggccaccaggaactgcc	10	16	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:87570335A>T	uc004aoa.1	+	18	2965	c.2027A>T	c.(2026-2028)GAT>GTT	p.D676V	NTRK2_uc004any.1_Missense_Mutation_p.D676V|NTRK2_uc004anz.1_Missense_Mutation_p.D692V	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	676	Protein kinase.|Cytoplasmic (Potential).	Proton acceptor (By similarity).			activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						GTGCACCGCGATTTGGCCACC	0.607										TSP Lung(25;0.17)			T	87570335	A	T	87570335	3	4	158	1	0	0	0	0	1	0	0	0	10707	333	12	5	2212	5	NTRK2	9	87570335	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1066933	87570335	53643096	1407	85188											
AGTPBP1	23287	broad.mit.edu	37	chr9	88200387	88200387	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaataattaccctgtatccCgtatcctccacaacatcaca	3	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:88200387C>T	uc011ltd.1	-	22	3189	c.3156G>A	c.(3154-3156)ACG>ACA	p.T1052T	AGTPBP1_uc004aod.3_Silent_p.T678T|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Silent_p.T1012T|AGTPBP1_uc011lte.1_Silent_p.T1064T	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1052					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						CCCTGTATCCCGTATCCTCCA	0.333													T	88200387	C	T	88200387	2	4	158	1	0	0	0	0	0	0	0	1	400	639	23	1		1	AGTPBP1	9	88200387	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	630052	88200387	53013044	1408	85189											
GAS1	2619	broad.mit.edu	37	chr9	89561023	89561023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggccgctcgaggccgtcGcacacgcagtcgttgagcag	15	13	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:89561023G>A	uc004aox.3	-	1	1082	c.672C>T	c.(670-672)TGC>TGT	p.C224C	uc004aoy.2_5'Flank	NM_002048	NP_002039	P54826	GAS1_HUMAN	growth arrest-specific 1 precursor	224					cell cycle arrest|negative regulation of S phase of mitotic cell cycle	anchored to plasma membrane					0						CGAGGCCGTCGCACACGCAGT	0.677													A	89561023	G	A	89561023	2	1	158	1	0	0	0	0	0	0	0	1	6244	1079	38	1		1	GAS1	9	89561023	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1360636	89561023	51652408	1409	85190											
C9orf170	401535	broad.mit.edu	37	chr9	89763793	89763793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggcctcctgctcagtcGgtgcaaatggaaaaagagac	12	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:89763793G>A	uc004apa.1	+	1	235	c.148G>A	c.(148-150)GGT>AGT	p.G50S		NM_001001709	NP_001001709	A2RU37	CI170_HUMAN	hypothetical protein LOC401535	50											0						CTGCTCAGTCGGTGCAAATGG	0.602													A	89763793	G	A	89763793	3	1	158	1	0	0	0	0	1	0	0	0	2469	1116	39	1	150	1	C9orf170	9	89763793	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	202770	89763793	51449638	1410	85191											
SYK	6850	broad.mit.edu	37	chr9	93636994	93636994	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatggacacagaggtgtaCgagagcccctacgcggaccc	12	15	0	2	rs142936514	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:93636994C>T	uc004aqz.2	+	9	1249	c.1044C>T	c.(1042-1044)TAC>TAT	p.Y348Y	SYK_uc004ara.2_Silent_p.Y325Y|SYK_uc004arb.2_Silent_p.Y325Y|SYK_uc004arc.2_Silent_p.Y348Y|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	348	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						CAGAGGTGTACGAGAGCCCCT	0.572			T	ETV6|ITK	MDS|peripheral T-cell lymphoma								T	93636994	C	T	93636994	2	4	158	1	0	0	0	0	0	0	0	1	15435	547	19	1		1	SYK	9	93636994	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	3873201	93636994	47576437	1411	85192											
ROR2	4920	broad.mit.edu	37	chr9	94487188	94487188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgttggggtgttgcagccGtgctcgcagcatagcctcat	14	11	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:94487188G>A	uc004arj.1	-	9	1787	c.1588C>T	c.(1588-1590)CGG>TGG	p.R530W	ROR2_uc004ari.1_Missense_Mutation_p.R390W	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	530	Cytoplasmic (Potential).|Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						TGTTGCAGCCGTGCTCGCAGC	0.647													A	94487188	G	A	94487188	3	1	158	1	0	0	0	0	1	0	0	0	13527	1144	40	1	1247	1	ROR2	9	94487188	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	850194	94487188	46726243	1412	85193											
WNK2	65268	broad.mit.edu	37	chr9	96051356	96051356	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccactagcggagactcaCgaggccccgcttgctgtgca	12	15	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:96051356C>T	uc004ati.1	+	20	4431	c.4431C>T	c.(4429-4431)CAC>CAT	p.H1477H	WNK2_uc011lud.1_Silent_p.H1440H|WNK2_uc004atj.2_Silent_p.H1440H|WNK2_uc004atk.2_Silent_p.H1077H|WNK2_uc004atl.1_Silent_p.H35H	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1477					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						CGGAGACTCACGAGGCCCCGC	0.672													T	96051356	C	T	96051356	2	4	158	1	0	0	0	0	0	0	0	1	17375	535	19	1		1	WNK2	9	96051356	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1564168	96051356	45162075	1413	85194											
PHF2	5253	broad.mit.edu	37	chr9	96422621	96422621	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaagtgtccaaaaaaaagActcccaaaactgtgaagatg	8	7	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:96422621A>G	uc004aub.2	+	12	1624	c.1477A>G	c.(1477-1479)ACT>GCT	p.T493A	PHF2_uc011lug.1_Missense_Mutation_p.T376A|PHF2_uc004auc.2_5'Flank	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	493	Pro-rich.|Lys-rich.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CAAAAAAAAGACTCCCAAAAC	0.433													G	96422621	A	G	96422621	3	3	158	1	0	0	0	0	1	0	0	0	11830	275	10	3	1523	3	PHF2	9	96422621	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	371265	96422621	44790810	1414	85195											
PHF2	5253	broad.mit.edu	37	chr9	96422642	96422642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcccaaaactgtgaagatgCccaagccatccaaaatcccc	5	16	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:96422642C>A	uc004aub.2	+	12	1645	c.1498C>A	c.(1498-1500)CCC>ACC	p.P500T	PHF2_uc011lug.1_Missense_Mutation_p.P383T|PHF2_uc004auc.2_5'Flank	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	500	Pro-rich.|Lys-rich.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TGTGAAGATGCCCAAGCCATC	0.418													A	96422642	C	A	96422642	3	1	158	1	0	0	0	0	1	0	0	0	11830	739	26	5	1544	5	PHF2	9	96422642	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	21	96422642	44790789	1415	85196											
BARX1	56033	broad.mit.edu	37	chr9	96715034	96715034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcttccacttcatcctccGattctggtaccacgtcttca	4	15	5	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:96715034G>A	uc010mrh.2	-	3	757	c.577C>T	c.(577-579)CGG>TGG	p.R193W	BARX1_uc004aud.2_Missense_Mutation_p.R39W	NM_021570	NP_067545	Q9HBU1	BARX1_HUMAN	BARX homeobox 1	193	Homeobox.					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TTCATCCTCCGATTCTGGTAC	0.572													A	96715034	G	A	96715034	3	1	158	1	0	0	0	0	1	0	0	0	1315	1057	37	1	195	1	BARX1	9	96715034	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	292392	96715034	44498397	1416	85197											
FAM22F	54754	broad.mit.edu	37	chr9	97082708	97082708	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatctcctcagggaccttggTctccgctggcctctggggcc	13	15	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:97082708T>C	uc004aup.1	-	5	1171	c.1150A>G	c.(1150-1152)ACC>GCC	p.T384A		NM_017561	NP_060031	A1L443	FA22F_HUMAN	hypothetical protein LOC54754	384	Pro-rich.										0		Acute lymphoblastic leukemia(62;0.136)				GGGACCTTGGTCTCCGCTGGC	0.677													C	97082708	T	C	97082708	3	2	158	1	0	0	0	0	1	0	0	0	5545	1667	58	3	1132	3	FAM22F	9	97082708	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	367674	97082708	44130723	1417	85198											
C9orf3	84909	broad.mit.edu	37	chr9	97563164	97563164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgggtgcctgccaagagaCccttctgcggctgatccctc	11	16	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:97563164C>T	uc004ava.2	+	4	1379	c.1244C>T	c.(1243-1245)ACC>ATC	p.T415I	C9orf3_uc004aux.1_Missense_Mutation_p.T415I|C9orf3_uc004auy.2_Missense_Mutation_p.T415I|C9orf3_uc004auz.1_Missense_Mutation_p.T415I	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	415					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TGCCAAGAGACCCTTCTGCGG	0.582													T	97563164	C	T	97563164	3	4	158	1	0	0	0	0	1	0	0	0	2477	507	18	4	1258	4	C9orf3	9	97563164	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	480456	97563164	43650267	1418	85199											
FANCC	2176	broad.mit.edu	37	chr9	97934320	97934320	+	Splice_Site	DEL	T	T	-													ataaattttaaatactcacaTttttaagcaaaccaggatag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:97934319_97934319AT>A	uc022bkl.1	-	5	660	c.456_splice	c.e5+1	p.N152_splice	FANCC_uc004avh.3_Splice_Site_p.N152_splice|FANCC_uc004avi.4_Splice_Site_p.N152_splice|FANCC_uc010mrm.1_Splice_Site|FANCC_uc011lul.1_Splice_Site	NM_001243743	NP_001230672	Q00597	FANCC_HUMAN	Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 2, mRNA.	152					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				AAATACTCACATTTTTAAGCA	0.333			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				-	97934320	T	-	97934320	8	5	158	1	0	1	0	1	0	0	1	0	5664	1507	52	0	1265	0	FANCC	9	97934320	Splice_Site	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	371156	97934320	43279111	1419	85200											
ZNF367	195828	broad.mit.edu	37	chr9	99160514	99160514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctattacagatgttacaaCggattctgctggatgaatgc	9	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:99160514C>T	uc004awf.2	-	2	858	c.503G>A	c.(502-504)CGT>CAT	p.R168H	ZNF367_uc004awg.2_Missense_Mutation_p.R168H	NM_153695	NP_710162	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	168	C2H2-type 1.				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0167)				GATGTTACAACGGATTCTGCT	0.433													T	99160514	C	T	99160514	3	4	158	1	0	0	0	0	1	0	0	0	17868	536	19	1	565	1	ZNF367	9	99160514	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1226194	99160514	42052917	1420	85201											
TDRD7	23424	broad.mit.edu	37	chr9	100245479	100245479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgtgtatgtgcctgtgGcctgtcacccaggctacttc	12	11	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:100245479G>A	uc004axj.2	+	15	2986	c.2761G>A	c.(2761-2763)GCC>ACC	p.A921T	TDRD7_uc011lux.1_Missense_Mutation_p.A847T|TDRD7_uc010msp.1_Missense_Mutation_p.A173T|TDRD7_uc011luy.1_Missense_Mutation_p.A241T	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	921	Interacts with CDK17 (By similarity).|Interacts with CABLES1 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)				TGTGCCTGTGGCCTGTCACCC	0.502													A	100245479	G	A	100245479	3	1	158	1	0	0	0	0	1	0	0	0	15732	1203	42	2	2815	2	TDRD7	9	100245479	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1084965	100245479	40967952	1421	85202											
C9orf156	51531	broad.mit.edu	37	chr9	100675785	100675785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccattcagcctaggagGctgcacttttgccttacagc	9	13	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:100675785G>A	uc004axv.1	-	3	384	c.307C>T	c.(307-309)CCT>TCT	p.P103S	C9orf156_uc004axw.1_5'UTR|C9orf156_uc004axx.1_5'UTR|C9orf156_uc010msq.1_5'UTR	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN	Nef associated protein 1	103					interspecies interaction between organisms		hydrolase activity				0		Acute lymphoblastic leukemia(62;0.158)				AGCCTAGGAGGCTGCACTTTT	0.423													A	100675785	G	A	100675785	3	1	158	1	0	0	0	0	1	0	0	0	2465	1203	42	2	1030	2	C9orf156	9	100675785	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	430306	100675785	40537646	1422	85203											
COL15A1	1306	broad.mit.edu	37	chr9	101831994	101831994	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggctccagcccccatggCgtccgccttgtggataacta	10	15	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:101831994C>T	uc004azb.1	+	42	4199	c.3993C>T	c.(3991-3993)GGC>GGT	p.G1331G		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1331	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				GCCCCCATGGCGTCCGCCTTG	0.502													T	101831994	C	T	101831994	2	4	158	1	0	0	0	0	0	0	0	1	3672	755	27	1		1	COL15A1	9	101831994	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1156209	101831994	39381437	1423	85204											
TAL2	6887	broad.mit.edu	37	chr9	108424944	108424944	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatatcaacttcttggtcaAggtcttgggggagcaaagcc	12	8	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:108424944A>G	uc004bct.2	+	1	207	c.167A>G	c.(166-168)AAG>AGG	p.K56R		NM_005421	NP_005412	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						TTCTTGGTCAAGGTCTTGGGG	0.557			T	TRB@	T-ALL								G	108424944	A	G	108424944	3	3	158	1	0	0	0	0	1	0	0	0	15539	72	3	3	169	3	TAL2	9	108424944	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	6592950	108424944	32788487	1424	85205											
RAD23B	5887	broad.mit.edu	37	chr9	110081129	110081129	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgagagccagtttcaacaAccctgacagagcagtggagt	11	11	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:110081129A>G	uc004bde.2	+	6	1017	c.650A>G	c.(649-651)AAC>AGC	p.N217S	RAD23B_uc011lwa.1_Missense_Mutation_p.N217S|RAD23B_uc011lwb.1_Missense_Mutation_p.N196S	NM_002874	NP_002865	P54727	RD23B_HUMAN	UV excision repair protein RAD23 homolog B	217	UBA 1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			ovary(1)	1						AGTTTCAACAACCCTGACAGA	0.378								Direct_reversal_of_damage|NER					G	110081129	A	G	110081129	3	3	158	1	0	0	0	0	1	0	0	0	12983	43	2	3	672	3	RAD23B	9	110081129	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1656185	110081129	31132302	1425	85206											
KLF4	9314	broad.mit.edu	37	chr9	110249387	110249387	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccgcgtaatcacaagtgtGggtggcggtccttttccggg	15	11	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:110249387G>T	uc004bdh.2	-	3	1882	c.1261C>A	c.(1261-1263)CAC>AAC	p.H421N	KLF4_uc004bdf.1_Missense_Mutation_p.H346N|KLF4_uc004bdg.2_Missense_Mutation_p.H396N	NM_004235	NP_004226	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	430	C2H2-type 1.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(2)|lung(1)	3						TCACAAGTGTGGGTGGCGGTC	0.582													T	110249387	G	T	110249387	3	4	158	1	0	0	0	0	1	0	0	0	8348	1348	47	5	261	5	KLF4	9	110249387	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	168258	110249387	30964044	1426	85207											
C9orf5	23731	broad.mit.edu	37	chr9	111853321	111853321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcttctttctaagaaacGttcctatttcaggccttcgt	5	10	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:111853321G>A	uc004bdt.3	-	5	1063	c.1031C>T	c.(1030-1032)ACG>ATG	p.T344M	C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Missense_Mutation_p.T344M	NM_032012	NP_114401	Q9H330	CI005_HUMAN	hypothetical protein LOC23731	344						integral to membrane				central_nervous_system(1)	1		Myeloproliferative disorder(63;0.204)		OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823)		TCTAAGAAACGTTCCTATTTC	0.502													A	111853321	G	A	111853321	3	1	158	1	0	0	0	0	1	0	0	0	2486	1145	40	1	1664	1	C9orf5	9	111853321	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1603934	111853321	29360110	1427	85208											
KIAA0368	23392	broad.mit.edu	37	chr9	114176903	114176903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccacccccgcactgtgcGcaaggcacatgcgcaagtac	10	17	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:114176903G>A	uc004bfe.1	-	20	2327	c.2327C>T	c.(2326-2328)GCG>GTG	p.A776V	KIAA0368_uc010muc.1_Missense_Mutation_p.A598V	NM_001080398	NP_001073867			KIAA0368 protein												0						CGCACTGTGCGCAAGGCACAT	0.522													A	114176903	G	A	114176903	3	1	158	1	0	0	0	0	1	0	0	0	8171	1087	38	1	3854	1	KIAA0368	9	114176903	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2323582	114176903	27036528	1428	85209											
ZNF618	114991	broad.mit.edu	37	chr9	116764290	116764290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagggtcttacgaatgcGgaatctgtggcaagaagtac	12	8	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:116764290G>A	uc004bid.2	+	5	547	c.448G>A	c.(448-450)GGA>AGA	p.G150R	ZNF618_uc004bib.1_Missense_Mutation_p.G118R|ZNF618_uc004bic.2_Missense_Mutation_p.G118R|ZNF618_uc011lxi.1_Missense_Mutation_p.G118R|ZNF618_uc011lxj.1_Missense_Mutation_p.G118R	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	150	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTACGAATGCGGAATCTGTGG	0.582													A	116764290	G	A	116764290	3	1	158	1	0	0	0	0	1	0	0	0	18039	1117	39	1	366	1	ZNF618	9	116764290	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2587387	116764290	24449141	1429	85210											
TNC	3371	broad.mit.edu	37	chr9	117852842	117852842	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgggccaccagctcataccTgtggcaggctggagacagca	14	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:117852842T>C	uc004bjj.3	-	2	818	c.456A>G	c.(454-456)ACA>ACG	p.T152T	TNC_uc010mvf.2_Silent_p.T152T	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	152					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						AGCTCATACCTGTGGCAGGCT	0.507													C	117852842	T	C	117852842	2	2	158	1	0	0	0	0	0	0	0	1	16267	1594	55	3		3	TNC	9	117852842	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1088552	117852842	23360589	1430	85211											
ASTN2	23245	broad.mit.edu	37	chr9	119568031	119568031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtttgaggcacttggggCcctcgcagacatctgagagc	14	11	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:119568031C>T	uc004bjs.1	-	13	2377	c.2276G>A	c.(2275-2277)GGC>GAC	p.G759D	ASTN2_uc004bjr.1_Missense_Mutation_p.G755D|ASTN2_uc004bjt.1_Missense_Mutation_p.G708D	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	759	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						GCACTTGGGGCCCTCGCAGAC	0.473													T	119568031	C	T	119568031	3	4	158	1	0	0	0	0	1	0	0	0	1065	739	26	2	2019	2	ASTN2	9	119568031	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1715189	119568031	21645400	1431	85212											
ASTN2	23245	broad.mit.edu	37	chr9	120053790	120053790	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtccgctgctgtgccagacaTctctgcaagacaagacccga	10	14	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:120053790T>A	uc004bjs.1	-	2	546	c.445A>T	c.(445-447)ATG>TTG	p.M149L	ASTN2_uc004bjr.1_Missense_Mutation_p.M149L|ASTN2_uc004bjt.1_Missense_Mutation_p.M149L	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	149	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						GTGCCAGACATCTCTGCAAGA	0.592													A	120053790	T	A	120053790	3	1	158	1	0	0	0	0	1	0	0	0	1065	1435	50	5	3737	5	ASTN2	9	120053790	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	485759	120053790	21159641	1432	85213											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123210316	123210316	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggctctgcagctgcgtcAccacctcctgggtggcaggg	14	14	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:123210316A>G	uc004bkf.2	-	22	3063	c.2882T>C	c.(2881-2883)GTG>GCG	p.V961A	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.V11A|CDK5RAP2_uc004bke.2_Missense_Mutation_p.V246A|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.V961A|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.V226A|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.V226A|CDK5RAP2_uc011lya.1_Missense_Mutation_p.V226A|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.V731A|CDK5RAP2_uc004bki.2_Missense_Mutation_p.V728A	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	961	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						CAGCTGCGTCACCACCTCCTG	0.483													G	123210316	A	G	123210316	3	3	158	1	0	0	0	0	1	0	0	0	3146	159	6	3	2867	3	CDK5RAP2	9	123210316	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	3156526	123210316	18003115	1433	85214											
GSN	2934	broad.mit.edu	37	chr9	124079413	124079413	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccctcgtggctgatgagaAccccttcgcccagggggccc	12	17	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:124079413A>G	uc004blf.1	+	7	1017	c.956A>G	c.(955-957)AAC>AGC	p.N319S	GSN_uc004bld.1_Missense_Mutation_p.N268S|GSN_uc010mvq.1_Missense_Mutation_p.N279S|GSN_uc010mvr.1_Missense_Mutation_p.N279S|GSN_uc010mvu.1_Missense_Mutation_p.N268S|GSN_uc010mvt.1_Missense_Mutation_p.N268S|GSN_uc010mvs.1_Missense_Mutation_p.N268S|GSN_uc004ble.1_Missense_Mutation_p.N268S|GSN_uc010mvv.1_Missense_Mutation_p.N268S|GSN_uc011lyh.1_Missense_Mutation_p.N285S|GSN_uc011lyi.1_Missense_Mutation_p.N268S|GSN_uc011lyj.1_Missense_Mutation_p.N292S|GSN_uc004blg.1_Missense_Mutation_p.N50S	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	319	Gelsolin-like 3.				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3						GCTGATGAGAACCCCTTCGCC	0.577													G	124079413	A	G	124079413	3	3	158	1	0	0	0	0	1	0	0	0	6825	43	2	3	1010	3	GSN	9	124079413	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	869097	124079413	17134018	1434	85215											
RABEPK	10244	broad.mit.edu	37	chr9	127982926	127982927	+	Frame_Shift_Del	DEL	GA	GA	-													gctatatgtctttgggggcgGagagagaggtgcccagcccg					rs150980160		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:127982925_127982926GGA>G	uc004bpi.3	+	5	641_642	c.472_473GGA>G	c.(472-474)ggafs	p.G158fs	RABEPK_uc004bph.2_3'UTR|RABEPK_uc004bpj.3_Frame_Shift_Del_p.G107fs|RABEPK_uc004bpk.3_Frame_Shift_Del_p.G158fs	NM_001174152	NP_005824	Q7Z6M1	RABEK_HUMAN	Homo sapiens Rab9 effector protein with kelch motifs (RABEPK), transcript variant 2, mRNA.	158					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		p.G157G(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						CTTTGGGGGCGGAGAGAGAGGT	0.589													-	127982927	GA	-	127982926	7	5	158	1	0	1	0	1	0	0	0	0	12963	1174	41	0	487	0	RABEPK	9	127982926	Frame_Shift_Del	DEL	GA	TCGA-CD-A4MG-01A-11D-A25D-08	3903513	127982926	13230505	1435	85216											
HSPA5	3309	broad.mit.edu	37	chr9	128001585	128001585	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccccctccctcttatccaGgccataagcaatagcagctg	6	17	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:128001585G>T	uc004bpn.2	-	5	887	c.631C>A	c.(631-633)CTG>ATG	p.L211M		NM_005347	NP_005338	P11021	GRP78_HUMAN	heat shock 70kDa protein 5	211					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			ovary(3)|skin(1)	4					Antihemophilic Factor(DB00025)	CTCTTATCCAGGCCATAAGCA	0.458										Prostate(1;0.17)			T	128001585	G	T	128001585	3	4	158	1	0	0	0	0	1	0	0	0	7414	991	35	5	1349	5	HSPA5	9	128001585	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	18659	128001585	13211846	1436	85217											
ZBTB43	23099	broad.mit.edu	37	chr9	129595386	129595386	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatacctgcccagcaactcgTccacagagcatgaccgcctg	8	16	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:129595386T>C	uc004bql.2	+	3	871	c.598T>C	c.(598-600)TCC>CCC	p.S200P	ZBTB43_uc010mxf.2_Missense_Mutation_p.S200P	NM_014007	NP_054726	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CAGCAACTCGTCCACAGAGCA	0.587													C	129595386	T	C	129595386	3	2	158	1	0	0	0	0	1	0	0	0	17541	1667	58	3	600	3	ZBTB43	9	129595386	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1593801	129595386	11618045	1437	85218											
RALGPS1	9649	broad.mit.edu	37	chr9	129931002	129931002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaagtacctgaagtccGtacgctacattgaagagctc	10	10	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:129931002G>A	uc004bqo.1	+	10	1060	c.793G>A	c.(793-795)GTA>ATA	p.V265I	RALGPS1_uc011mab.1_Missense_Mutation_p.V265I|RALGPS1_uc011mac.1_Missense_Mutation_p.V265I|RALGPS1_uc004bqq.3_Missense_Mutation_p.V265I	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	265	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			ovary(1)	1						CCTGAAGTCCGTACGCTACAT	0.522													A	129931002	G	A	129931002	3	1	158	1	0	0	0	0	1	0	0	0	13017	1145	40	1	827	1	RALGPS1	9	129931002	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	335616	129931002	11282429	1438	85219											
GARNL3	84253	broad.mit.edu	37	chr9	130097540	130097540	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggatacattcagtttatacTgtgtaccaagggcatgagat	11	6	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:130097540T>C	uc011mae.1	+	10	1202	c.801T>C	c.(799-801)ACT>ACC	p.T267T	GARNL3_uc011mad.1_Silent_p.T245T|GARNL3_uc004bqt.1_Silent_p.T48T	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	267	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CAGTTTATACTGTGTACCAAG	0.378													C	130097540	T	C	130097540	2	2	158	1	0	0	0	0	0	0	0	1	6241	1567	55	3		3	GARNL3	9	130097540	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	166538	130097540	11115891	1439	85220											
FAM129B	64855	broad.mit.edu	37	chr9	130279403	130279403	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacccacctggatccactgCcgctgccgctcctgcggttt	9	19	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:130279403C>T	uc004brh.2	-	7	1000	c.798G>A	c.(796-798)CGG>CGA	p.R266R	FAM129B_uc004bri.2_Silent_p.R253R|FAM129B_uc004brj.3_Silent_p.R266R	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	266							protein binding				0						GGATCCACTGCCGCTGCCGCT	0.687													T	130279403	C	T	130279403	2	4	158	1	0	0	0	0	0	0	0	1	5437	726	26	2		2	FAM129B	9	130279403	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	181863	130279403	10934028	1440	85221											
SH2D3C	10044	broad.mit.edu	37	chr9	130502625	130502625	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgctgccgcagggtcacCcatgtctgctccagccgaga	12	15	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:130502625C>T	uc004bsc.2	-	10	2254	c.2112G>A	c.(2110-2112)TGG>TGA	p.W704*	SH2D3C_uc010mxo.2_Nonsense_Mutation_p.W544*|SH2D3C_uc004bry.2_Nonsense_Mutation_p.W546*|SH2D3C_uc004brz.3_Nonsense_Mutation_p.W350*|SH2D3C_uc011mak.1_Nonsense_Mutation_p.W350*|SH2D3C_uc004bsa.2_Nonsense_Mutation_p.W547*|SH2D3C_uc004bsb.2_Nonsense_Mutation_p.W636*	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	704	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						GCAGGGTCACCCATGTCTGCT	0.597													T	130502625	C	T	130502625	4	4	158	1	0	0	0	0	0	1	0	0	14234	624	22	4	482	4	SH2D3C	9	130502625	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	223222	130502625	10710806	1441	85222											
FPGS	2356	broad.mit.edu	37	chr9	130566958	130566958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtatcctccgaagctatgGcctgaagacgggattcttta	10	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:130566958G>A	uc004bsg.1	+	4	415	c.365G>A	c.(364-366)GGC>GAC	p.G122D	FPGS_uc004bsh.1_5'UTR|FPGS_uc011mal.1_Missense_Mutation_p.G122D|FPGS_uc004bsi.1_Missense_Mutation_p.G72D	NM_004957	NP_004948	Q05932	FOLC_HUMAN	folylpolyglutamate synthase isoform a precursor	122					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity				0					L-Glutamic Acid(DB00142)	CGAAGCTATGGCCTGAAGACG	0.552													A	130566958	G	A	130566958	3	1	158	1	0	0	0	0	1	0	0	0	6036	1203	42	2	379	2	FPGS	9	130566958	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	64333	130566958	10646473	1442	85223											
ST6GALNAC4	27090	broad.mit.edu	37	chr9	130674628	130674628	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtgtacacctgcaggccgGggtacatcctggtgagctgc	15	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:130674628G>T	uc004bss.2	-	4	806	c.530C>A	c.(529-531)CCC>CAC	p.P177H	ST6GALNAC4_uc004bst.2_Missense_Mutation_p.P93H	NM_175039	NP_778204	Q9H4F1	SIA7D_HUMAN	sialyltransferase 7D isoform a	177	Lumenal (Potential).				glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity				0						CTGCAGGCCGGGGTACATCCT	0.662													T	130674628	G	T	130674628	3	4	158	1	0	0	0	0	1	0	0	0	15225	1232	43	5	390	5	ST6GALNAC4	9	130674628	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	107670	130674628	10538803	1443	85224											
LCN2	3934	broad.mit.edu	37	chr9	130913932	130913932	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggaaaaagaagtgtgaCtactggatcaggacttttgt	11	6	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:130913932C>A	uc004bto.1	+	3	364	c.291C>A	c.(289-291)GAC>GAA	p.D97E	LCN2_uc011map.1_Missense_Mutation_p.D97E	NM_005564	NP_005555	P80188	NGAL_HUMAN	lipocalin 2 precursor	97					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity				0						AGAAGTGTGACTACTGGATCA	0.587													A	130913932	C	A	130913932	3	1	158	1	0	0	0	0	1	0	0	0	8684	564	20	5	301	5	LCN2	9	130913932	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	239304	130913932	10299499	1444	85225											
ZDHHC12	84885	broad.mit.edu	37	chr9	131483604	131483604	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcgctggcggagataggcGatgcggtgtgaggagatgaa	21	5	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:131483604G>A	uc004bvy.2	-	5	696	c.660C>T	c.(658-660)ATC>ATT	p.I220I	ZDHHC12_uc004bvz.2_Silent_p.I275I	NM_032799	NP_116188	Q96GR4	ZDH12_HUMAN	zinc finger, DHHC domain containing 12	220						integral to membrane	acyltransferase activity|zinc ion binding				0						GGAGATAGGCGATGCGGTGTG	0.642													A	131483604	G	A	131483604	2	1	158	1	0	0	0	0	0	0	0	1	17599	1048	37	1		1	ZDHHC12	9	131483604	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	569672	131483604	9729827	1445	85226											
TBC1D13	54662	broad.mit.edu	37	chr9	131559379	131559379	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttccagagggccactgactaCccttgcctcctcatcctgga	8	16	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:131559379C>G	uc010myj.2	+	7	552	c.429C>G	c.(427-429)TAC>TAG	p.Y143*	TBC1D13_uc010myk.2_Nonsense_Mutation_p.Y143*|TBC1D13_uc010myl.2_5'UTR	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	143	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0						CCACTGACTACCCTTGCCTCC	0.507													G	131559379	C	G	131559379	4	3	158	1	0	0	0	0	0	1	0	0	15599	518	18	5	455	5	TBC1D13	9	131559379	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	75775	131559379	9654052	1446	85227											
C9orf50	375759	broad.mit.edu	37	chr9	132375722	132375722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagcctcacaggccagcGcagtcccaacacgaggagct	12	15	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:132375722G>A	uc004byc.3	-	5	1237	c.1035C>T	c.(1033-1035)TGC>TGT	p.C345C	C9orf50_uc004byb.3_RNA	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN	hypothetical protein LOC375759	345										ovary(1)|central_nervous_system(1)	2		Ovarian(14;0.00556)				ACAGGCCAGCGCAGTCCCAAC	0.657													A	132375722	G	A	132375722	2	1	158	1	0	0	0	0	0	0	0	1	2487	1079	38	1		1	C9orf50	9	132375722	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	816343	132375722	8837709	1447	85228											
TOR1A	1861	broad.mit.edu	37	chr9	132576385	132576385	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcatcaatttcatagcCtcgggactgcatttccactc	6	13	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:132576385C>A	uc004byl.2	-	5	942	c.865G>T	c.(865-867)GGC>TGC	p.G289C	TOR1A_uc004bym.2_RNA	NM_000113	NP_000104	O14656	TOR1A_HUMAN	torsin A precursor	289					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)	1		Ovarian(14;0.00556)				ATTTCATAGCCTCGGGACTGC	0.433													A	132576385	C	A	132576385	3	1	158	1	0	0	0	0	1	0	0	0	16368	681	24	5	137	5	TOR1A	9	132576385	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	200663	132576385	8637046	1448	85229											
USP20	10868	broad.mit.edu	37	chr9	132636012	132636012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagtactgcaaagtcctgCggttgcccgaggtgagccag	14	10	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:132636012C>T	uc004bys.2	+	17	1940	c.1729C>T	c.(1729-1731)CGG>TGG	p.R577W	USP20_uc004byr.2_Missense_Mutation_p.R577W|USP20_uc004byt.1_Missense_Mutation_p.R577W	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	577					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)				CAAAGTCCTGCGGTTGCCCGA	0.657													T	132636012	C	T	132636012	3	4	158	1	0	0	0	0	1	0	0	0	17049	759	27	1	1787	1	USP20	9	132636012	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	59627	132636012	8577419	1449	85230											
NCS1	23413	broad.mit.edu	37	chr9	132988754	132988754	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcgctgtccctctacgaCgggctggtatagtcccaggc	13	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:132988754C>T	uc004bzi.2	+	7	647	c.561C>T	c.(559-561)GAC>GAT	p.D187D	NCS1_uc010myz.1_Silent_p.D169D	NM_014286	NP_055101	P62166	NCS1_HUMAN	frequenin homolog isoform 1	187	Interaction with IL1RAPL1.				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding				0						CCCTCTACGACGGGCTGGTAT	0.632													T	132988754	C	T	132988754	2	4	158	1	0	0	0	0	0	0	0	1	10240	535	19	1		1	NCS1	9	132988754	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	352742	132988754	8224677	1450	85231											
NTNG2	84628	broad.mit.edu	37	chr9	135073834	135073834	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacctgcgcaacatggacaAcctctacacgcggctggaga	11	14	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:135073834A>G	uc004cbh.2	+	3	1471	c.695A>G	c.(694-696)AAC>AGC	p.N232S		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	232	Laminin N-terminal.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		AACATGGACAACCTCTACACG	0.667													G	135073834	A	G	135073834	3	3	158	1	0	0	0	0	1	0	0	0	10705	43	2	3	701	3	NTNG2	9	135073834	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	2085080	135073834	6139597	1451	85232											
NTNG2	84628	broad.mit.edu	37	chr9	135073887	135073887	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggagttcttcaccctcAccgacctgcgcatgcggctg	10	15	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:135073887A>G	uc004cbh.2	+	3	1524	c.748A>G	c.(748-750)ACC>GCC	p.T250A		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	250	Laminin N-terminal.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CTTCACCCTCACCGACCTGCG	0.637													G	135073887	A	G	135073887	3	3	158	1	0	0	0	0	1	0	0	0	10705	159	6	3	754	3	NTNG2	9	135073887	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	53	135073887	6139544	1452	85233											
SETX	23064	broad.mit.edu	37	chr9	135140338	135140338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatggcaccacgcttctgaGcatcctgaatcagctgattc	8	12	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:135140338G>A	uc004cbk.2	-	26	7505	c.7322C>T	c.(7321-7323)GCT>GTT	p.A2441V	SETX_uc004cbj.2_Missense_Mutation_p.A2089V|SETX_uc010mzt.2_Missense_Mutation_p.A2027V	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	2441					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACGCTTCTGAGCATCCTGAAT	0.428													A	135140338	G	A	135140338	3	1	158	1	0	0	0	0	1	0	0	0	14141	971	34	2	715	2	SETX	9	135140338	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	66451	135140338	6073093	1453	85234											
SETX	23064	broad.mit.edu	37	chr9	135203742	135203742	+	Frame_Shift_Del	DEL	A	A	-													tcagatgaactttcaaactcAaaacactgagaatcagattc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:135203741_135203741CA>C	uc004cbk.3	-	9	3427	c.3244_3244TG>G	c.(3244-3246)gagfs	p.E1082fs	SETX_uc004cbj.3_Frame_Shift_Del_p.E701fs|SETX_uc010mzt.3_Frame_Shift_Del_p.E701fs	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1082					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTTTCAAACTCAAAACACTGA	0.363													-	135203742	A	-	135203742	7	5	158	1	0	1	0	1	0	0	0	0	14141	127	5	0	4858	0	SETX	9	135203742	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	63404	135203742	6009689	1454	85235											
TTF1	7270	broad.mit.edu	37	chr9	135278107	135278107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggagtctctgaaaatttcGtgggaatgtttctgaggtct	13	5	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:135278107G>A	uc004cbl.2	-	2	154	c.102C>T	c.(100-102)CAC>CAT	p.H34H	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	34	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TGAAAATTTCGTGGGAATGTT	0.378													A	135278107	G	A	135278107	2	1	158	1	0	0	0	0	0	0	0	1	16715	1136	40	1		1	TTF1	9	135278107	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	74365	135278107	5935324	1455	85236											
DDX31	64794	broad.mit.edu	37	chr9	135487486	135487486	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcttaccttttcacgtgtGctttcctcttctttctagtc	4	13	5	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:135487486G>T	uc004cbq.1	-	19	2449	c.2297C>A	c.(2296-2298)GCA>GAA	p.A766E	DDX31_uc010mzu.1_Missense_Mutation_p.A693E	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	766						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TTTCACGTGTGCTTTCCTCTT	0.532													T	135487486	G	T	135487486	3	4	158	1	0	0	0	0	1	0	0	0	4356	1319	46	5	266	5	DDX31	9	135487486	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	209379	135487486	5725945	1456	85237											
DDX31	64794	broad.mit.edu	37	chr9	135521418	135521418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggaactccaccagctcgCaacttgagaaaaagacaacc	8	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:135521418C>T	uc004cbq.1	-	13	1711	c.1559G>A	c.(1558-1560)TGC>TAC	p.C520Y	DDX31_uc010mzu.1_Missense_Mutation_p.C520Y|DDX31_uc004cbr.1_Missense_Mutation_p.C520Y	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	520	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		CACCAGCTCGCAACTTGAGAA	0.502													T	135521418	C	T	135521418	3	4	158	1	0	0	0	0	1	0	0	0	4356	710	25	2	1035	2	DDX31	9	135521418	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	33932	135521418	5692013	1457	85238											
DDX31	64794	broad.mit.edu	37	chr9	135522215	135522215	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccacagtcccaccttgcAtttctgaaggatgaaggccg	10	13	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:135522215A>C	uc004cbq.1	-	12	1665	c.1513T>G	c.(1513-1515)TGC>GGC	p.C505G	DDX31_uc010mzu.1_Missense_Mutation_p.C505G|DDX31_uc004cbr.1_Missense_Mutation_p.C505G	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	505	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		CCCACCTTGCATTTCTGAAGG	0.502													C	135522215	A	C	135522215	3	2	158	1	0	0	0	0	1	0	0	0	4356	217	8	5	1085	5	DDX31	9	135522215	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	797	135522215	5691216	1458	85239											
SLC2A6	11182	broad.mit.edu	37	chr9	136339174	136339174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcagcacggacaggagccGcacggccccaacgatggctg	14	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:136339174G>A	uc004cee.2	-	7	1059	c.964C>T	c.(964-966)CGG>TGG	p.R322W	SLC2A6_uc004cef.2_Missense_Mutation_p.R322W|SLC2A6_uc004ceg.2_Missense_Mutation_p.R299W	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose	322	Helical; Name=8; (Potential).					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GACAGGAGCCGCACGGCCCCA	0.687													A	136339174	G	A	136339174	3	1	158	1	0	0	0	0	1	0	0	0	14549	1086	38	1	575	1	SLC2A6	9	136339174	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	816959	136339174	4874257	1459	85240											
BRD3	8019	broad.mit.edu	37	chr9	136918529	136918530	+	Frame_Shift_Ins	INS	-	-	G													gctggggttggagacctccgINSgggggggtgggttcacaggg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:136918528_136918529C>CG	uc004cew.3	-	1	259_260	c.71_72G>CG	c.(70-72)ccgfs	p.P24fs	BRD3_uc004cex.2_Frame_Shift_Ins_p.P24fs	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	24						nucleus	protein binding	p.P24fs*24(1)	BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TGGAGACCTCCGGGGGGGGTGG	0.658			T	C15orf55	lethal midline carcinoma of young people								G	136918530	-	G	136918529	7	5	158	1	0	1	1	0	0	0	0	0	1503	1116	39	0	2153	0	BRD3	9	136918529	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	579355	136918529	4294902	1460	85241											
CAMSAP1	157922	broad.mit.edu	37	chr9	138710921	138710921	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcgcacgcgggcctcctcGgccttgcgctgctgcttcag	13	16	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:138710921G>A	uc004cgr.3	-	12	3894	c.3894C>T	c.(3892-3894)GCC>GCT	p.A1298A	CAMSAP1_uc004cgq.3_Silent_p.A1188A|CAMSAP1_uc010nbg.2_Silent_p.A1020A	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1298						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGGCCTCCTCGGCCTTGCGCT	0.642													A	138710921	G	A	138710921	2	1	158	1	0	0	0	0	0	0	0	1	2611	1103	39	1		1	CAMSAP1	9	138710921	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1792392	138710921	2502510	1461	85242											
INPP5E	56623	broad.mit.edu	37	chr9	139329213	139329213	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctggccctgcatgttccaGgtggccacgaagagtgccac	12	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:139329213G>T	uc004cho.2	-	2	1300	c.915C>A	c.(913-915)ACC>ACA	p.T305T	INPP5E_uc010nbm.2_Silent_p.T305T	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase E	305						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			skin(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GCATGTTCCAGGTGGCCACGA	0.448													T	139329213	G	T	139329213	2	4	158	1	0	0	0	0	0	0	0	1	7757	987	35	5		5	INPP5E	9	139329213	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	618292	139329213	1884218	1462	85243											
FAM69B	138311	broad.mit.edu	37	chr9	139616653	139616653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctcgactccaaggcccGgtcggatgcggccccccggc	13	19	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:139616653G>A	uc004cik.2	+	4	477	c.383G>A	c.(382-384)CGG>CAG	p.R128Q	FAM69B_uc004cil.2_Missense_Mutation_p.R41Q|SNHG7_uc004cim.2_RNA	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	hypothetical protein LOC138311	128	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		TCCAAGGCCCGGTCGGATGCG	0.627													A	139616653	G	A	139616653	3	1	158	1	0	0	0	0	1	0	0	0	5603	1116	39	1	397	1	FAM69B	9	139616653	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	287440	139616653	1596778	1463	85244											
ABCA2	20	broad.mit.edu	37	chr9	139903482	139903482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgctcttggtccgcaccGtgatcatgtagccatctcca	10	14	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:139903482G>A	uc011mem.1	-	45	6996	c.6848C>T	c.(6847-6849)ACG>ATG	p.T2283M	ABCA2_uc011mel.1_Missense_Mutation_p.T2284M|ABCA2_uc004ckl.1_Missense_Mutation_p.T2214M|ABCA2_uc004ckm.1_Missense_Mutation_p.T2314M	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	2283	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGTCCGCACCGTGATCATGTA	0.577													A	139903482	G	A	139903482	3	1	158	1	0	0	0	0	1	0	0	0	32	1145	40	1	475	1	ABCA2	9	139903482	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	286829	139903482	1309949	1464	85245											
ABCA2	20	broad.mit.edu	37	chr9	139912071	139912071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagtgctgtcacggagatgGacagctgcacaaagccggtg	15	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:139912071G>A	uc011mem.1	-	16	2430	c.2282C>T	c.(2281-2283)TCC>TTC	p.S761F	ABCA2_uc011mel.1_Missense_Mutation_p.S762F|ABCA2_uc004ckl.1_Missense_Mutation_p.S692F|ABCA2_uc004ckm.1_Missense_Mutation_p.S792F|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	761	Helical; (Potential).				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CACGGAGATGGACAGCTGCAC	0.617													A	139912071	G	A	139912071	3	1	158	1	0	0	0	0	1	0	0	0	32	1174	41	4	5157	4	ABCA2	9	139912071	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	8589	139912071	1301360	1465	85246											
GRIN1	2902	broad.mit.edu	37	chr9	140059732	140059732	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccagcttcaagaggcgtaGgtcctccaaagacacggtaa	10	11	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:140059732G>T	uc004clk.2	+	19	3014	c.2684G>T	c.(2683-2685)AGG>ATG	p.R895M	GRIN1_uc004cli.1_3'UTR|GRIN1_uc004clj.1_3'UTR|GRIN1_uc004cll.2_Intron|GRIN1_uc004clm.2_Intron|GRIN1_uc004cln.2_Missense_Mutation_p.R913M|GRIN1_uc004clo.2_Intron	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	895	Cytoplasmic (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			skin(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	AAGAGGCGTAGGTCCTCCAAA	0.597													T	140059732	G	T	140059732	3	4	158	1	0	0	0	0	1	0	0	0	6778	1000	35	5	2825	5	GRIN1	9	140059732	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	147661	140059732	1153699	1466	85247											
NELF	26012	broad.mit.edu	37	chr9	140352310	140352310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggggccggctgcatctcGggggacccgtcgtggccaga	19	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:140352310G>A	uc004cna.2	-	3	409	c.177C>T	c.(175-177)CCC>CCT	p.P59P	C9orf167_uc011mew.1_Intron|NELF_uc010nci.2_5'Flank|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Silent_p.P59P|NELF_uc004cmz.2_Silent_p.P59P|NELF_uc004cnc.2_Silent_p.P59P|NELF_uc004cnb.2_Silent_p.P59P	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	nasal embryonic LHRH factor isoform a	59						nucleus|plasma membrane					0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)		GCTGCATCTCGGGGGACCCGT	0.672													A	140352310	G	A	140352310	2	1	158	1	0	0	0	0	0	0	0	1	10332	1103	39	1		1	NELF	9	140352310	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	292578	140352310	861121	1467	85248											
ZMYND19	116225	broad.mit.edu	37	chr9	140477029	140477029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagctcatgctggaagggaCgcttcctctcccgacagtgc	11	14	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:140477029C>T	uc004cno.1	-	6	872	c.650G>A	c.(649-651)CGT>CAT	p.R217H		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	zinc finger, MYND domain containing 19	217						Golgi apparatus|plasma membrane	zinc ion binding			skin(1)	1	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CTGGAAGGGACGCTTCCTCTC	0.637													T	140477029	C	T	140477029	3	4	158	1	0	0	0	0	1	0	0	0	17707	536	19	1	37	1	ZMYND19	9	140477029	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	124719	140477029	736402	1468	85249											
LARP4B	23185	broad.mit.edu	37	chr10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-													agataagcagaattccaatgTttttttaagtacttctcggg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:890939delT	uc001ifs.1	-	5	528	c.487delA	c.(487-489)ACAfs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	163	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						AATTCCAATGTTTTTTTAAGT	0.353													-	890939	T	-	890939	7	5	158	1	0	1	0	1	0	0	0	0	8631	1725	60	0	1781	0	LARP4B	10	890939	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08		890939	134643808	1469	85250											
RBM17	84991	broad.mit.edu	37	chr10	6157236	6157236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatgaagcagtacggaTatttttagaatttgagagag	12	2	0	6			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:6157236T>C	uc001ijb.2	+	11	1290	c.1064T>C	c.(1063-1065)ATA>ACA	p.I355T	RBM17_uc010qav.1_Missense_Mutation_p.I355T|RBM17_uc001ijc.2_RNA	NM_032905	NP_116294	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	355	RRM.				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding				0						GCAGTACGGATATTTTTAGAA	0.338													C	6157236	T	C	6157236	3	2	158	1	0	0	0	0	1	0	0	0	13119	1406	49	3	1102	3	RBM17	10	6157236	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	5266297	6157236	129377511	1470	85251											
SFMBT2	57713	broad.mit.edu	37	chr10	7409719	7409719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcggtcctccccgtaacCgcagtagcgcagaagcagca	11	16	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:7409719C>T	uc009xio.1	-	4	419	c.328G>A	c.(328-330)GGT>AGT	p.G110S	SFMBT2_uc001ijn.1_Missense_Mutation_p.G110S|SFMBT2_uc010qay.1_Missense_Mutation_p.G110S|SFMBT2_uc001ijo.1_Missense_Mutation_p.G110S	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	110	MBT 1.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						TCCCCGTAACCGCAGTAGCGC	0.572													T	7409719	C	T	7409719	3	4	158	1	0	0	0	0	1	0	0	0	14158	652	23	1	2428	1	SFMBT2	10	7409719	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1252483	7409719	128125028	1471	85252											
CDC123	8872	broad.mit.edu	37	chr10	12238292	12238292	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttctccgcgtggtacccGttcttccgaggcgttaccat	10	14	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:12238292G>A	uc001ill.2	+	1	332	c.48G>A	c.(46-48)CCG>CCA	p.P16P	NUDT5_uc001ilj.2_5'Flank|NUDT5_uc001ilk.2_5'Flank|CDC123_uc009xja.2_Silent_p.P16P|CDC123_uc001ilm.2_Silent_p.P16P	NM_006023	NP_006014	O75794	CD123_HUMAN	cell division cycle 123	16					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)	1						CGTGGTACCCGTTCTTCCGAG	0.602													A	12238292	G	A	12238292	2	1	158	1	0	0	0	0	0	0	0	1	3055	1132	40	1		1	CDC123	10	12238292	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4828573	12238292	123296455	1472	85253											
FRMD4A	55691	broad.mit.edu	37	chr10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-													ggatgtggtgggggctgcttGggggggtggctccaatttca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:13696451_13696451TG>T	uc001ims.3	-	22	3367	c.3015_3015CA>A	c.(3013-3015)ccafs	p.P1005fs	PRPF18_uc001imq.3_Intron|FRMD4A_uc009xjf.1_Frame_Shift_Del_p.P1005fs	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	1005	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGG	0.532													-	13696452	G	-	13696452	7	5	158	1	0	1	0	1	0	0	0	0	6051	1348	47	0	113	0	FRMD4A	10	13696452	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	1458160	13696452	121838295	1473	85254											
DCLRE1C	64421	broad.mit.edu	37	chr10	14991060	14991060	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaccttcttttcaaggTaggggctcttaatcctttca	6	12	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:14991060T>C	uc001inn.2	-	2	221	c.136A>G	c.(136-138)ACC>GCC	p.T46A	DCLRE1C_uc010qbx.1_Missense_Mutation_p.T46A|DCLRE1C_uc001inl.2_5'UTR|DCLRE1C_uc009xji.2_Intron|DCLRE1C_uc001inm.2_5'UTR|DCLRE1C_uc001ino.2_5'UTR|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_5'UTR|DCLRE1C_uc001inq.2_5'UTR|DCLRE1C_uc001inr.2_5'UTR	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	artemis protein isoform a	46					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)	1						CTTTTCAAGGTAGGGGCTCTT	0.279								Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ					C	14991060	T	C	14991060	3	2	158	1	0	0	0	0	1	0	0	0	4296	1638	57	3	1994	3	DCLRE1C	10	14991060	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1294608	14991060	120543687	1474	85255											
FAM171A1	221061	broad.mit.edu	37	chr10	15255509	15255509	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccacccccaagctccatcAgggccttttcagtcaggagc	8	17	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:15255509A>G	uc001iob.2	-	8	2085	c.2078T>C	c.(2077-2079)CTG>CCG	p.L693P		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	693	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						AAGCTCCATCAGGGCCTTTTC	0.577													G	15255509	A	G	15255509	3	3	158	1	0	0	0	0	1	0	0	0	5490	188	7	3	598	3	FAM171A1	10	15255509	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	264449	15255509	120279238	1475	85256											
ITGA8	8516	broad.mit.edu	37	chr10	15760810	15760810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactgcgcagacccctccgCgggccaaggacagtaataga	12	14	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:15760810C>T	uc001ioc.1	-	2	298	c.298G>A	c.(298-300)GCG>ACG	p.A100T	ITGA8_uc010qcb.1_Missense_Mutation_p.A100T	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	100	Extracellular (Potential).|FG-GAP 1.				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						GACCCCTCCGCGGGCCAAGGA	0.587													T	15760810	C	T	15760810	3	4	158	1	0	0	0	0	1	0	0	0	7882	768	27	1	3009	1	ITGA8	10	15760810	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	505301	15760810	119773937	1476	85257											
CUBN	8029	broad.mit.edu	37	chr10	17145208	17145208	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgtagctgaagcttccAtttattcctgagagggactc	9	11	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:17145208A>G	uc001ioo.2	-	13	1498	c.1446T>C	c.(1444-1446)AAT>AAC	p.N482N		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	482	CUB 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGAAGCTTCCATTTATTCCTG	0.433													G	17145208	A	G	17145208	2	3	158	1	0	0	0	0	0	0	0	1	4051	214	8	3		3	CUBN	10	17145208	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1384398	17145208	118389539	1477	85258											
PTPLA	9200	broad.mit.edu	37	chr10	17646017	17646017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctttttccatataaaaaCgtaccatggcaatagctaga	5	9	0	1	rs150586011		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:17646017C>T	uc001ipg.2	-	2	322	c.287G>A	c.(286-288)CGT>CAT	p.R96H	PTPLA_uc001iph.1_Missense_Mutation_p.R96H	NM_014241	NP_055056	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like, member A	96	Lumenal (Potential).				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			central_nervous_system(1)|skin(1)	2						CATATAAAAACGTACCATGGC	0.289													T	17646017	C	T	17646017	3	4	158	1	0	0	0	0	1	0	0	0	12774	536	19	1	603	1	PTPLA	10	17646017	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	500809	17646017	117888730	1478	85259											
C10orf140	387640	broad.mit.edu	37	chr10	21804228	21804228	+	Frame_Shift_Del	DEL	T	T	-													tgccatgaaatgaaatggccTtttcactgctgatgctacat							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:21804227_21804227CT>C	uc009xkd.3	-	3	4778	c.2525_2525AG>G	c.(2524-2526)aggfs	p.R842fs	AK055656_uc001iqp.1_Intron|C10orf140_uc021pnx.1_Frame_Shift_Del_p.R842fs	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	Homo sapiens chromosome 10 open reading frame 140 (C10orf140), mRNA.	761						nucleus	nucleotide binding			kidney(1)|large_intestine(8)|lung(9)|ovary(1)|soft_tissue(1)|urinary_tract(1)	21						ATGAAATGGCCTTTTCACTGC	0.418													-	21804228	T	-	21804228	7	5	158	1	0	1	0	1	0	0	0	0	1595	1608	56	0	206	0	C10orf140	10	21804228	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	4158211	21804228	113730519	1479	85260											
MLLT10	8028	broad.mit.edu	37	chr10	22021893	22021894	+	Frame_Shift_Ins	INS	-	-	A													aagattagaggaacaaattaINSaaaacttgactgccaaaaag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:22021892_22021893T>TA	uc021pny.1	+	16	2283_2284	c.2283_2284T>TA	c.(2281-2286)attaaafs	p.I761fs	MLLT10_uc001iqs.3_Frame_Shift_Ins_p.I777fs|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc001iqt.3_Frame_Shift_Ins_p.I761fs|MLLT10_uc001ira.3_Frame_Shift_Ins_p.I218fs|MLLT10_uc001irb.3_Non-coding_Transcript	NM_001195626	NP_001182555	P55197	AF10_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.	777	Transactivation domain.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AGGAACAAATTAAAAACTTGAC	0.361			T	"MLL, PICALM, CDK6"	AL								A	22021894	-	A	22021893	7	5	158	1	0	1	1	0	0	0	0	0	9626	363	13	0	2402	0	MLLT10	10	22021893	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	217665	22021893	113512854	1480	85261											
KIAA1217	56243	broad.mit.edu	37	chr10	24832165	24832165	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgtcacgtttcctctcaCactagactaacagaatcaag	6	11	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:24832165C>T	uc001iru.3	+	19	4369	c.3966C>T	c.(3964-3966)CAC>CAT	p.H1322H	KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Silent_p.H1005H|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Silent_p.H158H	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1322					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						TTTCCTCTCACACTAGACTAA	0.418													T	24832165	C	T	24832165	2	4	158	1	0	0	0	0	0	0	0	1	8216	477	17	4		4	KIAA1217	10	24832165	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2810272	24832165	110702582	1481	85262											
GPR158	57512	broad.mit.edu	37	chr10	25887176	25887176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtccacggagtcggtgcCgttggtgtgcaagtcagcaa	15	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:25887176C>T	uc001isj.2	+	11	2681	c.2621C>T	c.(2620-2622)CCG>CTG	p.P874L	GPR158_uc001isk.2_Missense_Mutation_p.P249L	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	874	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						GAGTCGGTGCCGTTGGTGTGC	0.488													T	25887176	C	T	25887176	3	4	158	1	0	0	0	0	1	0	0	0	6663	652	23	1	2663	1	GPR158	10	25887176	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1055011	25887176	109647571	1482	85263											
MASTL	84930	broad.mit.edu	37	chr10	27459506	27459507	+	Frame_Shift_Del	DEL	TG	TG	-													tgtgtgaactcgatgaagacTgtgaaaagaatagtaagagg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:27459505_27459506CTG>C	uc001itm.3	+	7	2220_2221	c.1617_1618CTG>C	c.(1615-1620)gactgtfs	p.D539fs	MASTL_uc001itl.3_Frame_Shift_Del_p.D539fs|MASTL_uc009xkw.2_Frame_Shift_Del_p.D539fs|MASTL_uc009xkx.2_Non-coding_Transcript	NM_001172303	NP_001165774	Q96GX5	GWL_HUMAN	Homo sapiens microtubule associated serine/threonine kinase-like (MASTL), transcript variant 1, mRNA.	539	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCGATGAAGACTGTGAAAAGAA	0.312													-	27459507	TG	-	27459506	7	5	158	1	0	1	0	1	0	0	0	0	9328	1580	55	0	1648	0	MASTL	10	27459506	Frame_Shift_Del	DEL	TG	TCGA-CD-A4MG-01A-11D-A25D-08	1572330	27459506	108075241	1483	85264											
ARMC4	55130	broad.mit.edu	37	chr10	28233164	28233164	+	Frame_Shift_Del	DEL	C	C	-													tactcaccagtttggtgataCccccgtgctgcctcaccacc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:28233163_28233163AC>A	uc009xky.3	-	11	1829	c.1731_1731GT>T	c.(1729-1731)ggtfs	p.G577fs	ARMC4_uc010qds.2_Frame_Shift_Del_p.G102fs|ARMC4_uc010qdt.2_Frame_Shift_Del_p.G269fs|ARMC4_uc001itz.3_Frame_Shift_Del_p.G577fs|ARMC4_uc010qdu.1_Frame_Shift_Del_p.G269fs	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	577							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GTTTGGTGATACCCCCGTGCT	0.527													-	28233164	C	-	28233164	7	5	158	1	0	1	0	1	0	0	0	0	953	507	18	0	1440	0	ARMC4	10	28233164	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	773658	28233164	107301583	1484	85265											
MTPAP	55149	broad.mit.edu	37	chr10	30629179	30629179	+	Frame_Shift_Del	DEL	A	A	-													tctgcataacaaagtaattcAaaaagctgcttgtttgaacg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:30629179delA	uc001iva.3	-	3	594	c.531delT	c.(529-531)TTTfs	p.F177fs	MTPAP_uc001ivb.3_Frame_Shift_Del_p.F307fs|MTPAP_uc001ivc.2_Frame_Shift_Del_p.F177fs	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	PAP associated domain containing 1 precursor	177					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			ovary(1)	1						AAAGTAATTCAAAAAGCTGCT	0.348													-	30629179	A	-	30629179	7	5	158	1	0	1	0	1	0	0	0	0	9956	127	5	0	1245	0	MTPAP	10	30629179	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	2396015	30629179	104905568	1485	85266											
MTPAP	55149	broad.mit.edu	37	chr10	30653757	30653757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttgtgatcgcctgcaagcCgcaacaccagctcctgcagc	10	16	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:30653757C>T	uc001ivb.3	-	9	1797	c.425G>A	c.(424-426)CGG>CAG	p.R142Q	LOC729668_uc001ivd.2_RNA|uc001ive.1_5'Flank	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	PAP associated domain containing 1 precursor	Error:Variant_position_missing_in_Q9NVV4_after_alignment					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			ovary(1)	1						GCCTGCAAGCCGCAACACCAG	0.582													T	30653757	C	T	30653757	3	4	158	1	0	0	0	0	1	0	0	0	9956	667	23	1		1	MTPAP	10	30653757	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	24578	30653757	104880990	1486	85267											
ZEB1	6935	broad.mit.edu	37	chr10	31799797	31799797	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatcacataaatcaggaagAgatcaagtaagtgcaatgac	8	7	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:31799797A>C	uc001ivs.3	+	5	741	c.678A>C	c.(676-678)AGA>AGC	p.R226S	ZEB1_uc001ivr.3_Missense_Mutation_p.R8S|ZEB1_uc010qee.1_Missense_Mutation_p.R8S|ZEB1_uc010qef.1_Missense_Mutation_p.R8S|ZEB1_uc009xlh.1_RNA|ZEB1_uc009xli.1_RNA|ZEB1_uc009xlj.1_Missense_Mutation_p.R152S|ZEB1_uc010qeg.1_Missense_Mutation_p.R85S|ZEB1_uc009xlk.1_Missense_Mutation_p.R8S|ZEB1_uc001ivt.3_Missense_Mutation_p.R8S|ZEB1_uc001ivu.3_Missense_Mutation_p.R227S|ZEB1_uc001ivv.3_Missense_Mutation_p.R206S|ZEB1_uc010qeh.1_Missense_Mutation_p.R159S|ZEB1_uc009xll.2_RNA|ZEB1_uc009xlm.1_RNA|ZEB1_uc009xln.1_RNA|ZEB1_uc009xlo.1_Missense_Mutation_p.R209S|ZEB1_uc009xlp.2_Missense_Mutation_p.R210S	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	226					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				AATCAGGAAGAGATCAAGTAA	0.368													C	31799797	A	C	31799797	3	2	158	1	0	0	0	0	1	0	0	0	17620	301	11	5	710	5	ZEB1	10	31799797	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1146040	31799797	103734950	1487	85268											
EPC1	80314	broad.mit.edu	37	chr10	32575927	32575927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattgtcttcctcagcttccGaagagccagacaaaaccttt	6	13	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:32575927G>A	uc001iwg.1	-	8	1439	c.1169C>T	c.(1168-1170)TCG>TTG	p.S390L	EPC1_uc001iwi.3_Missense_Mutation_p.S340L|EPC1_uc009xlt.2_Missense_Mutation_p.S340L|EPC1_uc001iwh.1_Missense_Mutation_p.S390L	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	enhancer of polycomb 1	390					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				ovary(3)|central_nervous_system(1)	4		Prostate(175;0.0199)				CTCAGCTTCCGAAGAGCCAGA	0.398													A	32575927	G	A	32575927	3	1	158	1	0	0	0	0	1	0	0	0	5160	1059	37	1	1373	1	EPC1	10	32575927	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	776130	32575927	102958820	1488	85269											
C10orf68	79741	broad.mit.edu	37	chr10	33018339	33018339	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagttttattatcaagaagCgaatctcaaacgaagaaact	6	6	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:33018339C>T	uc001iwn.3	+	10	1253	c.780C>T	c.(778-780)AGC>AGT	p.S260S	C10orf68_uc001iwl.1_Silent_p.S268S|C10orf68_uc001iwm.1_Silent_p.S236S|C10orf68_uc010qei.1_Silent_p.S172S|C10orf68_uc001iwo.3_RNA	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	260										skin(2)|ovary(1)	3						TATCAAGAAGCGAATCTCAAA	0.249													T	33018339	C	T	33018339	2	4	158	1	0	0	0	0	0	0	0	1	1613	767	27	1		1	C10orf68	10	33018339	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	442412	33018339	102516408	1489	85270											
ITGB1	3688	broad.mit.edu	37	chr10	33209310	33209310	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaaatgacttctgaggaaaGggactaaaagaatgcctaat	9	6	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:33209310G>T	uc001iws.3	-	10	1268	c.1132C>A	c.(1132-1134)CTT>ATT	p.L378I	ITGB1_uc001iwp.3_Missense_Mutation_p.L378I|ITGB1_uc001iwq.3_Missense_Mutation_p.L378I|ITGB1_uc001iwr.3_Missense_Mutation_p.L378I|ITGB1_uc001iwt.3_Missense_Mutation_p.L378I|ITGB1_uc001iwu.1_Missense_Mutation_p.L378I	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	378	Extracellular (Potential).|VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TCTGAGGAAAGGGACTAAAAG	0.353													T	33209310	G	T	33209310	3	4	158	1	0	0	0	0	1	0	0	0	7890	1000	35	5	1530	5	ITGB1	10	33209310	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	190971	33209310	102325437	1490	85271											
FZD8	8325	broad.mit.edu	37	chr10	35929958	35929958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgggcagccggtcgcagcGcatgcggtcgggccaggcga	18	14	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:35929958G>A	uc001iyz.1	-	1	405	c.400C>T	c.(400-402)CGC>TGC	p.R134C		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	134	FZ.|Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0						CGGTCGCAGCGCATGCGGTCG	0.607													A	35929958	G	A	35929958	3	1	158	1	0	0	0	0	1	0	0	0	6136	1087	38	1	1688	1	FZD8	10	35929958	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2720648	35929958	99604789	1491	85272											
ANKRD30A	91074	broad.mit.edu	37	chr10	37421250	37421250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgataaaaaatgcaaatgCgaatgcagttaataagtata	8	4	0	1	rs61737413		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:37421250C>T	uc001iza.1	+	4	524	c.425C>T	c.(424-426)GCG>GTG	p.A142V		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	198	ANK 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						AATGCAAATGCGAATGCAGTT	0.299													T	37421250	C	T	37421250	3	4	158	1	0	0	0	0	1	0	0	0	658	768	27	1	439	1	ANKRD30A	10	37421250	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1491292	37421250	98113497	1492	85273											
RET	5979	broad.mit.edu	37	chr10	43622119	43622119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctggtggactgtaataatGcccccctccctcgagccctc	9	17	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:43622119G>A	uc001jal.2	+	19	3326	c.3136G>A	c.(3136-3138)GCC>ACC	p.A1046T	RET_uc001jak.1_Missense_Mutation_p.A1046T|RET_uc010qez.1_Missense_Mutation_p.A792T	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	1046	Cytoplasmic (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	CTGTAATAATGCCCCCCTCCC	0.527		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				A	43622119	G	A	43622119	3	1	158	1	0	0	0	0	1	0	0	0	13235	1319	46	2	3210	2	RET	10	43622119	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	6200869	43622119	91912628	1493	85274											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43678815	43678815	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggtcttttccacctctGgcatgaaaagcgctgtgctg	10	12	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:43678815G>A	uc001jan.2	+	8	1789	c.1454G>A	c.(1453-1455)TGG>TAG	p.W485*		NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate	485	Lumenal (Potential).				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			ovary(1)	1						TTCCACCTCTGGCATGAAAAG	0.507													A	43678815	G	A	43678815	4	1	158	1	0	0	0	0	0	1	0	0	3939	1357	47	4	1480	4	CSGALNACT2	10	43678815	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	56696	43678815	91855932	1494	85275											
HNRNPF	3185	broad.mit.edu	37	chr10	43882324	43882324	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccacagcttcttcatgagTagcaaactcaacatctgctt	6	12	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:43882324T>C	uc009xmh.1	-	3	1496	c.1009A>G	c.(1009-1011)ACT>GCT	p.T337A	HNRNPF_uc001jar.2_Missense_Mutation_p.T337A|HNRNPF_uc001jas.2_Missense_Mutation_p.T337A|HNRNPF_uc001jat.2_Missense_Mutation_p.T337A|HNRNPF_uc001jav.2_Missense_Mutation_p.T337A|HNRNPF_uc001jau.2_Missense_Mutation_p.T337A|uc010qfa.1_Silent_p.S2S	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	337	RRM 3.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding				0						TCTTCATGAGTAGCAAACTCA	0.463													C	43882324	T	C	43882324	3	2	158	1	0	0	0	0	1	0	0	0	7265	1638	57	3	242	3	HNRNPF	10	43882324	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	203509	43882324	91652423	1495	85276											
TMEM72	643236	broad.mit.edu	37	chr10	45430173	45430173	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagaagaggaaagctgcccCcgaggtgctggcctccccag	14	13	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:45430173C>A	uc001jbn.2	+	5	616	c.419C>A	c.(418-420)CCC>CAC	p.P140H	uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.P22H	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	transmembrane protein 72	140						integral to membrane					0						AAAGCTGCCCCCGAGGTGCTG	0.597													A	45430173	C	A	45430173	3	1	158	1	0	0	0	0	1	0	0	0	16198	623	22	5	437	5	TMEM72	10	45430173	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1547849	45430173	90104574	1496	85277											
ALOX5	240	broad.mit.edu	37	chr10	45938973	45938973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtgtacggcatgcggggcCgcaagtcctcaggtagggcc	16	12	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:45938973C>T	uc001jce.2	+	11	1660	c.1561C>T	c.(1561-1563)CGC>TGC	p.R521C	ALOX5_uc009xmt.2_Missense_Mutation_p.R489C|ALOX5_uc010qfg.1_Missense_Mutation_p.R521C	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	521	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			ovary(1)|pancreas(1)	2		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CATGCGGGGCCGCAAGTCCTC	0.692													T	45938973	C	T	45938973	3	4	158	1	0	0	0	0	1	0	0	0	540	652	23	1	1603	1	ALOX5	10	45938973	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	508800	45938973	89595774	1497	85278											
ERCC6	2074	broad.mit.edu	37	chr10	50678283	50678286	+	Frame_Shift_Del	DEL	CTCA	CTCA	-													tcattgctctgttccttggcCtcactcttgttttcactgtc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:50678282_50678285CCTCA>C	uc001jhs.4	-	17	3875_3878	c.3721_3724TGAGG>G	c.(3721-3726)gaggccfs	p.E1241fs	ERCC6_uc009xod.3_Frame_Shift_Del_p.E401fs|ERCC6_uc010qgr.2_Frame_Shift_Del_p.E611fs|ERCC6_uc001jhr.4_Frame_Shift_Del_p.E609fs	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	1241					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGTTCCTTGGCCTCACTCTTGTTT	0.417								Direct reversal of damage;Nucleotide excision repair (NER)					-	50678286	CTCA	-	50678283	7	5	158	1	0	1	0	1	0	0	0	0	5217	680	24	0	774	0	ERCC6	10	50678283	Frame_Shift_Del	DEL	CTCA	TCGA-CD-A4MG-01A-11D-A25D-08	4739310	50678283	84856464	1498	85279											
ERCC6	2074	broad.mit.edu	37	chr10	50678849	50678849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagcagggaacttcttgcGttttggaacatcatggtctg	12	7	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:50678849G>A	uc001jhs.3	-	18	3311	c.3157C>T	c.(3157-3159)CGC>TGC	p.R1053C	ERCC6_uc009xod.2_Missense_Mutation_p.R213C|ERCC6_uc010qgr.1_Missense_Mutation_p.R423C|ERCC6_uc001jhr.3_Missense_Mutation_p.R421C	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	1053	Nuclear localization signal (Potential).				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						AACTTCTTGCGTTTTGGAACA	0.408								Direct_reversal_of_damage|NER					A	50678849	G	A	50678849	3	1	158	1	0	0	0	0	1	0	0	0	5217	1145	40	1	1340	1	ERCC6	10	50678849	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	566	50678849	84855898	1499	85280											
ERCC6	2074	broad.mit.edu	37	chr10	50679169	50679169	+	Splice_Site	DEL	A	A	-													aactgcttgaagatttgtctAaaaaaataaaagataagctg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:50679168_50679168TA>T	uc001jhs.4	-	17	3079	c.2925_splice	c.e17-1	p.R975_splice	ERCC6_uc009xod.3_Splice_Site_p.R135_splice|ERCC6_uc010qgr.2_Splice_Site_p.R345_splice|ERCC6_uc001jhr.4_Splice_Site_p.R343_splice	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	975	Helicase C-terminal.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAGATTTGTCTAAAAAAATAA	0.323								Direct reversal of damage;Nucleotide excision repair (NER)					-	50679169	A	-	50679169	8	5	158	1	0	1	0	1	0	0	1	0	5217	377	13	0		0	ERCC6	10	50679169	Splice_Site	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	320	50679169	84855578	1500	85281											
SLC18A3	6572	broad.mit.edu	37	chr10	50819414	50819414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtacccggaggagccggagCgcagtcgtgcactgggcgtg	18	11	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:50819414C>T	uc001jhw.2	+	1	1068	c.628C>T	c.(628-630)CGC>TGC	p.R210C	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	210	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						GGAGCCGGAGCGCAGTCGTGC	0.672													T	50819414	C	T	50819414	3	4	158	1	0	0	0	0	1	0	0	0	14427	768	27	1	630	1	SLC18A3	10	50819414	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	140245	50819414	84715333	1501	85282											
SLC25A16	8034	broad.mit.edu	37	chr10	70243270	70243270	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaatacagcgaatgtaattAagagataaaccacgatagag	10	5	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:70243270A>G	uc001joi.2	-	9	1370	c.918T>C	c.(916-918)CTT>CTC	p.L306L	SLC25A16_uc010qix.1_Silent_p.L172L|SLC25A16_uc010qiy.1_Silent_p.L208L|SLC25A16_uc001joj.2_Silent_p.L208L	NM_152707	NP_689920	P16260	GDC_HUMAN	solute carrier family 25, member 16	306	Solcar 3.|Helical; Name=6; (Potential).				coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity				0						GAATGTAATTAAGAGATAAAC	0.358													G	70243270	A	G	70243270	2	3	158	1	0	0	0	0	0	0	0	1	14478	349	13	3		3	SLC25A16	10	70243270	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	19423856	70243270	65291477	1502	85283											
TET1	80312	broad.mit.edu	37	chr10	70451499	70451499	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cataaagcattaacattaacCcatgacaatgttgtcaccgt	5	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:70451499C>A	uc001jok.3	+	12	6844	c.6339C>A	c.(6337-6339)ACC>ACA	p.T2113T		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	2113					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						TAACATTAACCCATGACAATG	0.453													A	70451499	C	A	70451499	2	1	158	1	0	0	0	0	0	0	0	1	15766	610	22	5		5	TET1	10	70451499	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	208229	70451499	65083248	1503	85284											
STOX1	219736	broad.mit.edu	37	chr10	70646144	70646144	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatagcgcaagaaaagccagTtttgaagctgaagtcataca	9	7	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:70646144T>A	uc001jos.2	+	3	2679	c.2592T>A	c.(2590-2592)AGT>AGA	p.S864R	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.S754R	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	864						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2						GAAAAGCCAGTTTTGAAGCTG	0.423													A	70646144	T	A	70646144	3	1	158	1	0	0	0	0	1	0	0	0	15318	1722	60	5	2602	5	STOX1	10	70646144	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	194645	70646144	64888603	1504	85285											
DDX50	79009	broad.mit.edu	37	chr10	70679634	70679634	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcagaggccagcagttattgGagatgtccttcaagtctaca	10	9	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:70679634G>T	uc001jou.2	+	8	1243	c.1136G>T	c.(1135-1137)GGA>GTA	p.G379V	DDX50_uc010qjc.1_Missense_Mutation_p.G379V	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	nucleolar protein GU2	379						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1						GCAGTTATTGGAGATGTCCTT	0.368													T	70679634	G	T	70679634	3	4	158	1	0	0	0	0	1	0	0	0	4368	1174	41	5	1166	5	DDX50	10	70679634	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	33490	70679634	64855113	1505	85286											
HK1	3098	broad.mit.edu	37	chr10	71128331	71128331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagcgatttaaagcgagcGgagtggaaggagcagatgtg	16	5	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:71128331G>A	uc001jpl.3	+	5	636	c.535G>A	c.(535-537)GGA>AGA	p.G179R	HK1_uc001jpg.3_Missense_Mutation_p.G167R|HK1_uc001jph.3_Missense_Mutation_p.G183R|HK1_uc001jpi.3_Missense_Mutation_p.G183R|HK1_uc001jpj.3_Missense_Mutation_p.G214R|HK1_uc001jpk.3_Missense_Mutation_p.G178R|HK1_uc009xqd.2_Missense_Mutation_p.G57R	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	179	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						TAAAGCGAGCGGAGTGGAAGG	0.567													A	71128331	G	A	71128331	3	1	158	1	0	0	0	0	1	0	0	0	7190	1117	39	1	731	1	HK1	10	71128331	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	448697	71128331	64406416	1506	85287											
COL13A1	1305	broad.mit.edu	37	chr10	71678073	71678073	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgccgtggctgggatgaaGgtcagtggactgttgtaacc	15	7	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:71678073G>T	uc001jpr.1	+	18	1565	c.1029G>T	c.(1027-1029)AAG>AAT	p.K343N	COL13A1_uc001jqj.1_Missense_Mutation_p.K343N|COL13A1_uc001jps.1_Missense_Mutation_p.K314N|COL13A1_uc001jpt.1_Missense_Mutation_p.K302N|COL13A1_uc001jpu.1_Missense_Mutation_p.K324N|COL13A1_uc001jpv.1_Missense_Mutation_p.K343N|COL13A1_uc001jpx.1_Missense_Mutation_p.K321N|COL13A1_uc001jpw.1_Missense_Mutation_p.K290N|COL13A1_uc001jpy.1_Missense_Mutation_p.K281N|COL13A1_uc001jpz.1_Missense_Mutation_p.K286N|COL13A1_uc001jqa.1_Missense_Mutation_p.K283N|COL13A1_uc001jqc.1_Missense_Mutation_p.K343N|COL13A1_uc001jqb.1_Missense_Mutation_p.K292N|COL13A1_uc001jql.2_Missense_Mutation_p.K343N|COL13A1_uc001jqd.1_Missense_Mutation_p.K331N|COL13A1_uc001jqe.1_Missense_Mutation_p.K326N|COL13A1_uc001jqf.1_Missense_Mutation_p.K324N|COL13A1_uc001jqg.1_Missense_Mutation_p.K321N|COL13A1_uc001jqh.1_Missense_Mutation_p.K343N|COL13A1_uc001jqi.1_Missense_Mutation_p.K343N|COL13A1_uc010qjf.1_Missense_Mutation_p.K133N|COL13A1_uc001jqk.1_Missense_Mutation_p.K181N	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN	alpha 1 type XIII collagen isoform 1	343	Extracellular (Potential).|Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	p.K326K(1)		ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)	CTGGGATGAAGGTCAGTGGAC	0.597													T	71678073	G	T	71678073	3	4	158	1	0	0	0	0	1	0	0	0	3670	1014	35	5	1103	5	COL13A1	10	71678073	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	549742	71678073	63856674	1507	85288											
H2AFY2	55506	broad.mit.edu	37	chr10	71849835	71849835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggaaattctagaattggcCggcaatgccgcgagggacaa	14	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:71849835C>T	uc001jqm.2	+	3	651	c.192C>T	c.(190-192)GCC>GCT	p.A64A	H2AFY2_uc001jqn.2_RNA	NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	64	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			skin(1)	1						TAGAATTGGCCGGCAATGCCG	0.502													T	71849835	C	T	71849835	2	4	158	1	0	0	0	0	0	0	0	1	6930	639	23	1		1	H2AFY2	10	71849835	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	171762	71849835	63684912	1508	85289											
NODAL	4838	broad.mit.edu	37	chr10	72195498	72195498	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accatgctgcccaaggaaaaGgtgacctgggacaaagtgac	12	10	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:72195498G>T	uc001jrc.2	-	2	477	c.435C>A	c.(433-435)ACC>ACA	p.T145T		NM_018055	NP_060525	Q96S42	NODAL_HUMAN	nodal precursor	145					growth	extracellular space	cytokine activity|growth factor activity			large_intestine(1)|kidney(1)	2						CCAAGGAAAAGGTGACCTGGG	0.557													T	72195498	G	T	72195498	2	4	158	1	0	0	0	0	0	0	0	1	10518	987	35	5		5	NODAL	10	72195498	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	345663	72195498	63339249	1509	85290											
UNC5B	219699	broad.mit.edu	37	chr10	73056442	73056442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctcacctgcaagatctgCgtgcggcaagtggaagggga	16	9	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:73056442C>T	uc001jro.2	+	15	2878	c.2433C>T	c.(2431-2433)TGC>TGT	p.C811C	UNC5B_uc001jrp.2_Silent_p.C800C	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	811	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						GCAAGATCTGCGTGCGGCAAG	0.582													T	73056442	C	T	73056442	2	4	158	1	0	0	0	0	0	0	0	1	16989	776	27	1		1	UNC5B	10	73056442	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	860944	73056442	62478305	1510	85291											
CDH23	64072	broad.mit.edu	37	chr10	73376970	73376970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtccatagggcacggaGctgaacgatgaccgcacccc	11	15	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:73376970G>A	uc001jrx.3	+	11	1331	c.954G>A	c.(952-954)GAG>GAA	p.E318E	CDH23_uc001jrw.3_Silent_p.E318E|CDH23_uc009xql.2_Silent_p.E363E	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	318	Cadherin 3.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						AGGGCACGGAGCTGAACGATG	0.428													A	73376970	G	A	73376970	2	1	158	1	0	0	0	0	0	0	0	1	3108	962	34	2		2	CDH23	10	73376970	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	320528	73376970	62157777	1511	85292											
PLA2G12B	84647	broad.mit.edu	37	chr10	74695441	74695441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactattcataaaggggcgGcagcccaaggtccacacggt	12	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:74695441G>A	uc001jtf.1	-	4	589	c.522C>T	c.(520-522)TGC>TGT	p.C174C	PLA2G12B_uc009xqt.1_Silent_p.C84C|PLA2G12B_uc010qjz.1_Silent_p.C173C	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB precursor	174					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			ovary(1)	1	Prostate(51;0.0198)					TAAAGGGGCGGCAGCCCAAGG	0.488													A	74695441	G	A	74695441	2	1	158	1	0	0	0	0	0	0	0	1	11991	1195	42	2		2	PLA2G12B	10	74695441	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1318471	74695441	60839306	1512	85293											
VCL	7414	broad.mit.edu	37	chr10	75863688	75863688	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgttgaaaaaatgacaggTagagttttctatacaaatct	7	4	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:75863688T>C	uc001jwd.2	+	15	2225	c.2131_splice	c.e15+2	p.G711_splice	VCL_uc009xrr.2_Splice_Site_p.G460_splice|VCL_uc010qky.1_Splice_Site_p.G618_splice|VCL_uc001jwe.2_Splice_Site_p.G711_splice|VCL_uc010qkz.1_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL						adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)					AAATGACAGGTAGAGTTTTCT	0.388													C	75863688	T	C	75863688	5	2	158	1	0	0	0	0	0	0	1	0	17136	1652	57	3	2191	3	VCL	10	75863688	Splice_Site	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1168247	75863688	59671059	1513	85294											
MYST4	23522	broad.mit.edu	37	chr10	76788662	76788662	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaggaggaAgaggaagaagaggaagaaga	21	0	0	6			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:76788662A>G	uc001jwn.1	+	18	4573	c.4080A>G	c.(4078-4080)GAA>GAG	p.E1360E	MYST4_uc001jwo.1_Silent_p.E1068E|MYST4_uc001jwp.1_Silent_p.E1177E	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1360	Poly-Glu.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					aggaggaggaagaggaagaag	0.234			T	CREBBP	AML								G	76788662	A	G	76788662	2	3	158	1	0	0	0	0	0	0	0	1	10105	69	3	3		3	MYST4	10	76788662	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	924974	76788662	58746085	1514	85295											
MYST4	23522	broad.mit.edu	37	chr10	76788772	76788772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggaaccagaaatctccaCggaaaaagaagactctgcac	9	10	2	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:76788772C>T	uc001jwn.1	+	18	4683	c.4190C>T	c.(4189-4191)ACG>ATG	p.T1397M	MYST4_uc001jwo.1_Missense_Mutation_p.T1105M|MYST4_uc001jwp.1_Missense_Mutation_p.T1214M	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1397					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					GAAATCTCCACGGAAAAAGAA	0.358			T	CREBBP	AML								T	76788772	C	T	76788772	3	4	158	1	0	0	0	0	1	0	0	0	10105	536	19	1	4252	1	MYST4	10	76788772	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	110	76788772	58745975	1515	85296											
POLR3A	11128	broad.mit.edu	37	chr10	79745049	79745049	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtgcctggctcaccaaTgctctgggcacacagagcac	12	14	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:79745049T>C	uc001jzn.2	-	24	3215	c.3121A>G	c.(3121-3123)ATT>GTT	p.I1041V		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	1041					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GGCTCACCAATGCTCTGGGCA	0.542													C	79745049	T	C	79745049	3	2	158	1	0	0	0	0	1	0	0	0	12228	1464	51	3	1083	3	POLR3A	10	79745049	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	2956277	79745049	55789698	1516	85297											
WAPAL	23063	broad.mit.edu	37	chr10	88259565	88259565	+	Frame_Shift_Del	DEL	T	T	-													tgatggagctgttttagttcTttttttgcttgtctttcttt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:88259564_88259564CT>C	uc001kdn.3	-	3	1574	c.1565_1565AG>G	c.(1564-1566)agafs	p.R522fs	WAPAL_uc001kdo.3_Frame_Shift_Del_p.R479fs|WAPAL_uc009xsw.3_Frame_Shift_Del_p.R479fs	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	479	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TGTTTTAGTTCTTTTTTTGCT	0.383													-	88259565	T	-	88259565	7	5	158	1	0	1	0	1	0	0	0	0	17245	1617	56	0	2205	0	WAPAL	10	88259565	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	8514516	88259565	47275182	1517	85298											
BMPR1A	657	broad.mit.edu	37	chr10	88683138	88683138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcattcccttatagggatcGtggaagaataccaattgcca	8	10	1	1	rs55932635		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:88683138G>A	uc001kdy.2	+	12	1896	c.1348G>A	c.(1348-1350)GTG>ATG	p.V450M	BMPR1A_uc001kdz.2_Translation_Start_Site	NM_004329	NP_004320	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	450	Cytoplasmic (Potential).|Protein kinase.				BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			lung(3)|large_intestine(1)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	8						TATAGGGATCGTGGAAGAATA	0.408			Mis|N|F			gastrointestinal polyps			Hereditary_Mixed_Polyposis_syndrome_type_2|Juvenile_Polyposis				A	88683138	G	A	88683138	3	1	158	1	0	0	0	0	1	0	0	0	1469	1145	40	1	1386	1	BMPR1A	10	88683138	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	423573	88683138	46851609	1518	85299											
MMRN2	79812	broad.mit.edu	37	chr10	88703700	88703700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaagtcagccctggccaCggcactgtcctggactctgg	13	14	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:88703700C>T	uc001kea.2	-	6	968	c.841G>A	c.(841-843)GTG>ATG	p.V281M	MMRN2_uc010qmn.1_Intron|MMRN2_uc009xtb.2_Missense_Mutation_p.V238M	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	281						extracellular space				large_intestine(1)	1						GCCCTGGCCACGGCACTGTCC	0.587													T	88703700	C	T	88703700	3	4	158	1	0	0	0	0	1	0	0	0	9671	536	19	1	2016	1	MMRN2	10	88703700	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	20562	88703700	46831047	1519	85300											
LIPA	3988	broad.mit.edu	37	chr10	90988087	90988087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcccaggctgctgttggCaaggtttgtgacccagttac	13	10	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:90988087C>T	uc001kga.3	-	4	466	c.298G>A	c.(298-300)GCC>ACC	p.A100T	LIPA_uc001kgb.3_Missense_Mutation_p.A44T|LIPA_uc001kgc.3_Missense_Mutation_p.A95T|LIPA_uc009xtq.2_Missense_Mutation_p.A100T	NM_000235	NP_000226	P38571	LICH_HUMAN	lipase A precursor	100					lipid catabolic process	lysosome	lipase activity|sterol esterase activity				0		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		CTGCTGTTGGCAAGGTTTGTG	0.483													T	90988087	C	T	90988087	3	4	158	1	0	0	0	0	1	0	0	0	8819	710	25	2	929	2	LIPA	10	90988087	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2284387	90988087	44546660	1520	85301											
PANK1	53354	broad.mit.edu	37	chr10	91371754	91371754	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatatccttcggctcgaaaTacaccaatttaaccagcgtt	5	11	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:91371754T>C	uc001kgp.1	-	2	911	c.755A>G	c.(754-756)TAT>TGT	p.Y252C	PANK1_uc001kgn.1_Missense_Mutation_p.Y27C|PANK1_uc001kgo.1_Missense_Mutation_p.Y27C|PANK1_uc009xtu.1_Missense_Mutation_p.Y54C	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	pantothenate kinase 1 isoform alpha	252					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity				0					Bezafibrate(DB01393)	CGGCTCGAAATACACCAATTT	0.453													C	91371754	T	C	91371754	3	2	158	1	0	0	0	0	1	0	0	0	11416	1406	49	3	1065	3	PANK1	10	91371754	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	383667	91371754	44162993	1521	85302											
PANK1	53354	broad.mit.edu	37	chr10	91405007	91405007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctcccagactggtccccGccactgagcatgcccagtcc	9	20	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:91405007G>A	uc001kgp.1	-	1	209	c.53C>T	c.(52-54)GCG>GTG	p.A18V	PANK1_uc001kgn.1_5'Flank|PANK1_uc001kgo.1_5'Flank|PANK1_uc009xtu.1_5'Flank	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	pantothenate kinase 1 isoform alpha	18					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity				0					Bezafibrate(DB01393)	ACTGGTCCCCGCCACTGAGCA	0.697													A	91405007	G	A	91405007	3	1	158	1	0	0	0	0	1	0	0	0	11416	1087	38	1	1803	1	PANK1	10	91405007	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	33253	91405007	44129740	1522	85303											
ANKRD1	27063	broad.mit.edu	37	chr10	92675364	92675364	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatcatcttatagcggttcAgtctcaccgcatcatgcaac	8	12	5	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:92675364A>G	uc001khe.1	-	8	1033	c.785T>C	c.(784-786)CTG>CCG	p.L262P		NM_014391	NP_055206	Q15327	ANKR1_HUMAN	cardiac ankyrin repeat protein	262	ANK 4.				cellular lipid metabolic process|defense response|signal transduction		DNA binding				0		Colorectal(252;0.0475)				ATAGCGGTTCAGTCTCACCGC	0.507													G	92675364	A	G	92675364	3	3	158	1	0	0	0	0	1	0	0	0	637	188	7	3	182	3	ANKRD1	10	92675364	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1270357	92675364	42859383	1523	85304											
IDE	3416	broad.mit.edu	37	chr10	94274751	94274751	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttcagtagctcttgtcttAcatcaatgccttcttggttt	6	9	5	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:94274751A>G	uc001kia.2	-	5	786	c.710T>C	c.(709-711)GTA>GCA	p.V237A		NM_004969	NP_004960	P14735	IDE_HUMAN	insulin-degrading enzyme isoform 1 precursor	237					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCTTGTCTTACATCAATGCC	0.358													G	94274751	A	G	94274751	3	3	158	1	0	0	0	0	1	0	0	0	7493	391	14	3	2433	3	IDE	10	94274751	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1599387	94274751	41259996	1524	85305											
PLCE1	51196	broad.mit.edu	37	chr10	95790874	95790874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaagtggtttctgcccagtCggctgcagatgaaagtagtg	13	7	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:95790874C>T	uc001kjk.2	+	2	705	c.71C>T	c.(70-72)TCG>TTG	p.S24L	PLCE1_uc010qnx.1_Missense_Mutation_p.S24L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	24					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				TCTGCCCAGTCGGCTGCAGAT	0.428													T	95790874	C	T	95790874	3	4	158	1	0	0	0	0	1	0	0	0	12034	893	31	1	73	1	PLCE1	10	95790874	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1516123	95790874	39743873	1525	85306											
HELLS	3070	broad.mit.edu	37	chr10	96352264	96352264	+	Frame_Shift_Del	DEL	A	A	-													catgtcttactcagagagagAaaaaaacgtaagactactta							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:96352264delA	uc001kjt.2	+	17	2069	c.1964delA	c.(1963-1965)GAAfs	p.E655fs	HELLS_uc001kjs.2_Frame_Shift_Del_p.E639fs|HELLS_uc009xul.2_Frame_Shift_Del_p.E557fs|HELLS_uc009xum.2_Frame_Shift_Del_p.E525fs|HELLS_uc009xun.2_Frame_Shift_Del_p.E531fs|HELLS_uc009xuo.2_Frame_Shift_Del_p.E701fs|HELLS_uc001kju.2_Frame_Shift_Del_p.E294fs|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Frame_Shift_Del_p.E517fs|HELLS_uc009xur.2_RNA	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	655	Helicase C-terminal.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			ovary(1)|kidney(1)	2		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TCAGAGAGAGAAAAAAACGTA	0.348													-	96352264	A	-	96352264	7	5	158	1	0	1	0	1	0	0	0	0	7046	246	9	0	2030	0	HELLS	10	96352264	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	561390	96352264	39182483	1526	85307											
ANKRD2	26287	broad.mit.edu	37	chr10	99341172	99341172	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccaatgtgagggataagGtgaggcaaaaacactcagaa	11	7	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:99341172G>A	uc001knw.2	+	6	944	c.735_splice	c.e6+1	p.K245_splice	DHDPSL_uc001knx.2_5'Flank|DHDPSL_uc001kny.2_5'Flank|DHDPSL_uc001knz.2_5'Flank|PI4K2A_uc010qoy.1_5'Flank|ANKRD2_uc009xvu.2_Splice_Site_p.K245_splice	NM_020349	NP_065082	Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 isoform a						muscle contraction|muscle organ development		structural constituent of muscle				0		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		GAGGGATAAGGTGAGGCAAAA	0.572													A	99341172	G	A	99341172	5	1	158	1	0	0	0	0	0	0	1	0	647	1275	44	4	758	4	ANKRD2	10	99341172	Splice_Site	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2988908	99341172	36193575	1527	85308											
HPSE2	60495	broad.mit.edu	37	chr10	100481539	100481539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtaatcctttcccaactgGctgccatttactgcccggcc	7	15	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:100481539G>A	uc001kpn.1	-	5	891	c.831C>T	c.(829-831)AGC>AGT	p.S277S	HPSE2_uc009xwc.1_Silent_p.S267S|HPSE2_uc001kpo.1_Silent_p.S209S|HPSE2_uc009xwd.1_Silent_p.S155S	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	heparanase 2	277					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			ovary(1)	1				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TTCCCAACTGGCTGCCATTTA	0.488													A	100481539	G	A	100481539	2	1	158	1	0	0	0	0	0	0	0	1	7345	1194	42	2		2	HPSE2	10	100481539	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1140367	100481539	35053208	1528	85309											
DNMBP	23268	broad.mit.edu	37	chr10	101715303	101715303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaggcaggggagctgggCgagagggtcgcaccaccaag	20	9	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:101715303C>T	uc001kqj.2	-	4	2020	c.1928G>A	c.(1927-1929)CGC>CAC	p.R643H	NCRNA00093_uc001kqk.1_Intron	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	643	Pro-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGGAGCTGGGCGAGAGGGTCG	0.587													T	101715303	C	T	101715303	3	4	158	1	0	0	0	0	1	0	0	0	4674	768	27	1	2861	1	DNMBP	10	101715303	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1233764	101715303	33819444	1529	85310											
CWF19L1	55280	broad.mit.edu	37	chr10	102006622	102006622	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagggttttcagtgacaTccggaggctgttttaccagt	12	7	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:102006622T>C	uc001kqq.1	-	8	866	c.779A>G	c.(778-780)GAT>GGT	p.D260G	CWF19L1_uc001kqs.1_Missense_Mutation_p.D12G|CWF19L1_uc001kqr.1_Missense_Mutation_p.D260G|CWF19L1_uc001kqt.1_5'UTR|CWF19L1_uc010qpn.1_Missense_Mutation_p.D123G	NM_018294	NP_060764	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control	260							catalytic activity				0		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		TTCAGTGACATCCGGAGGCTG	0.413													C	102006622	T	C	102006622	3	2	158	1	0	0	0	0	1	0	0	0	4071	1435	50	3	865	3	CWF19L1	10	102006622	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	291319	102006622	33528125	1530	85311											
PAX2	5076	broad.mit.edu	37	chr10	102509534	102509534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtgaaccagctcgggggGgtgtttgtgaacggccggcc	19	9	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:102509534G>A	uc001krk.3	+	2	625	c.75G>A	c.(73-75)GGG>GGA	p.G25G	PAX2_uc001krl.3_Silent_p.G25G|PAX2_uc001krm.3_Silent_p.G25G|PAX2_uc001kro.3_Silent_p.G25G|PAX2_uc001krn.3_Silent_p.G25G|PAX2_uc010qps.1_Silent_p.G24G|PAX2_uc001krp.1_Silent_p.G29G	NM_003990	NP_003981	Q02962	PAX2_HUMAN	paired box protein 2 isoform e	25	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity				0		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		AGCTCGGGGGGGTGTTTGTGA	0.657													A	102509534	G	A	102509534	2	1	158	1	0	0	0	0	0	0	0	1	11479	1219	43	4		4	PAX2	10	102509534	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	502912	102509534	33025213	1531	85312											
LZTS2	84445	broad.mit.edu	37	chr10	102762354	102762355	+	Frame_Shift_Ins	INS	-	-	C													gctcctgaagctgccactgcINScccacaagctccagtcatgg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:102762353_102762354G>GC	uc001ksj.3	+	1	228_229	c.58_59G>GC	c.(58-60)gccfs	p.A20fs	LZTS2_uc010qpw.2_Frame_Shift_Ins_p.A20fs|LZTS2_uc001ksk.3_Frame_Shift_Ins_p.A20fs|LZTS2_uc001ksl.3_Frame_Shift_Ins_p.A20fs|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	20	Required for centrosomal localization (By similarity).				Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		AGCTGCCACTGCCCCACAAGCT	0.693													C	102762355	-	C	102762354	7	5	158	1	0	1	1	0	0	0	0	0	9139	739	26	0	61	0	LZTS2	10	102762354	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	252820	102762354	32772393	1532	85313											
HPS6	79803	broad.mit.edu	37	chr10	103827023	103827024	+	Frame_Shift_Ins	INS	-	-	G													cgggccgggctggggggcagINSggggcccaggactgcccctg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:103827022_103827023A>AG	uc001kuj.3	+	0	1899_1900	c.1791_1792A>AG	c.(1789-1794)gcagggfs	p.A597fs		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.	597						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GCTGGGGGGCAGGGGGCCCAGG	0.668									Hermansky-Pudlak syndrome				G	103827024	-	G	103827023	7	5	158	1	0	1	1	0	0	0	0	0	7343	1000	35	0	1794	0	HPS6	10	103827023	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	1064669	103827023	31707724	1533	85314											
PPRC1	23082	broad.mit.edu	37	chr10	103908248	103908248	+	Frame_Shift_Del	DEL	C	C	-													aagccgctcacgatccccatCcccccgccggagaagtgaca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:103908247_103908247TC>T	uc001kum.3	+	9	4558	c.4519_4519TC>T	c.(4519-4521)tccfs	p.S1507fs	PPRC1_uc001kun.3_Frame_Shift_Del_p.S1387fs|PPRC1_uc010qqj.2_Frame_Shift_Del_p.S1243fs|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	1507	Arg-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ACGATCCCCATCCCCCCGCCG	0.557													-	103908248	C	-	103908248	7	5	158	1	0	1	0	1	0	0	0	0	12410	855	30	0	4558	0	PPRC1	10	103908248	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	81225	103908248	31626499	1534	85315											
GBF1	8729	broad.mit.edu	37	chr10	104136818	104136818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagccaacatgcctctcGgggcgggcagagtgatgatg	14	12	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:104136818G>A	uc001kux.1	+	33	4652	c.4412G>A	c.(4411-4413)CGG>CAG	p.R1471Q	GBF1_uc001kuy.1_Missense_Mutation_p.R1471Q|GBF1_uc001kuz.1_Missense_Mutation_p.R1472Q	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1471					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CATGCCTCTCGGGGCGGGCAG	0.527													A	104136818	G	A	104136818	3	1	158	1	0	0	0	0	1	0	0	0	6271	1116	39	1	4538	1	GBF1	10	104136818	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	228570	104136818	31397929	1535	85316											
PSD	5662	broad.mit.edu	37	chr10	104173924	104173924	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcccaggtagaaagggcacAggtgacttgagaggcatccg	15	9	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:104173924A>G	uc001kvg.1	-	5	1682	c.1155T>C	c.(1153-1155)CCT>CCC	p.P385P	PSD_uc001kvh.1_Silent_p.P6P|PSD_uc009xxd.1_Silent_p.P385P	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	385					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GAAAGGGCACAGGTGACTTGA	0.602													G	104173924	A	G	104173924	2	3	158	1	0	0	0	0	0	0	0	1	12646	175	7	3		3	PSD	10	104173924	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	37106	104173924	31360823	1536	85317											
TMEM180	79847	broad.mit.edu	37	chr10	104230805	104230805	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctttctgggggccacacAgctgctgaggcggcgggttg	19	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:104230805A>G	uc001kvt.2	+	5	854	c.635A>G	c.(634-636)CAG>CGG	p.Q212R	TMEM180_uc001kvs.2_Intron|TMEM180_uc010qql.1_Intron|TMEM180_uc010qqm.1_Intron|TMEM180_uc001kvu.2_Missense_Mutation_p.Q212R	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	transmembrane protein 180	212	Helical; (Potential).					integral to membrane				ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGGGCCACACAGCTGCTGAGG	0.632													G	104230805	A	G	104230805	3	3	158	1	0	0	0	0	1	0	0	0	16096	188	7	3	645	3	TMEM180	10	104230805	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	56881	104230805	31303942	1537	85318											
TRIM8	81603	broad.mit.edu	37	chr10	104416854	104416854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcggccgcaagattctcGtctgttctgtggacaactgt	12	10	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:104416854G>A	uc001kvz.2	+	6	1522	c.1399G>A	c.(1399-1401)GTC>ATC	p.V467I		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	tripartite motif-containing 8	467						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAAGATTCTCGTCTGTTCTGT	0.637													A	104416854	G	A	104416854	3	1	158	1	0	0	0	0	1	0	0	0	16545	1145	40	1	1421	1	TRIM8	10	104416854	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	186049	104416854	31117893	1538	85319											
SHOC2	8036	broad.mit.edu	37	chr10	112745488	112745488	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gataaccaaccttgacttgcAgcacaatgaactgctagacc	7	12	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:112745488A>G	uc001kzl.3	+	3	1155	c.806A>G	c.(805-807)CAG>CGG	p.Q269R	SHOC2_uc009xxx.2_Missense_Mutation_p.Q269R|SHOC2_uc010qrg.1_5'UTR|SHOC2_uc001kzn.2_Intron	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog	269	LRR 8.				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			ovary(1)|skin(1)	2				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CTTGACTTGCAGCACAATGAA	0.388													G	112745488	A	G	112745488	3	3	158	1	0	0	0	0	1	0	0	0	14287	188	7	3	812	3	SHOC2	10	112745488	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	8328634	112745488	22789259	1539	85320											
GPAM	57678	broad.mit.edu	37	chr10	113919769	113919769	+	Frame_Shift_Del	DEL	C	C	-													taggtggggtgctagtgggaCcccccagtcccctcttgttc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:113919768_113919768AC>A	uc009xxy.2	-	16	2013	c.1803_1803GT>T	c.(1801-1803)ggtfs	p.G601fs	GPAM_uc001kzp.3_Frame_Shift_Del_p.G601fs|GPAM_uc001kzq.1_Frame_Shift_Del_p.G601fs	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	601					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TGCTAGTGGGACCCCCCAGTC	0.527													-	113919769	C	-	113919769	7	5	158	1	0	1	0	1	0	0	0	0	6588	507	18	0	708	0	GPAM	10	113919769	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	1174281	113919769	21614978	1540	85321											
HABP2	3026	broad.mit.edu	37	chr10	115338407	115338407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgatgactgctatgttgGcgatggctactcttaccgag	11	9	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:115338407G>A	uc001lai.3	+	7	693	c.590G>A	c.(589-591)GGC>GAC	p.G197D	HABP2_uc010qrz.1_RNA|HABP2_uc010qry.1_3'UTR	NM_004132	NP_004123	Q14520	HABP2_HUMAN	hyaluronan binding protein 2 preproprotein	197	Kringle.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TGCTATGTTGGCGATGGCTAC	0.502													A	115338407	G	A	115338407	3	1	158	1	0	0	0	0	1	0	0	0	6938	1203	42	2	616	2	HABP2	10	115338407	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1418638	115338407	20196340	1541	85322											
NRAP	4892	broad.mit.edu	37	chr10	115411594	115411594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgccccagccttgctccGtagcagctcaggagtatcca	10	15	1	0	rs140934697	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:115411594G>A	uc001laj.2	-	7	807	c.643C>T	c.(643-645)CGG>TGG	p.R215W	NRAP_uc001lak.2_Missense_Mutation_p.R215W|NRAP_uc001lal.3_Missense_Mutation_p.R215W	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	215	Nebulin 4.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCCTTGCTCCGTAGCAGCTCA	0.393													A	115411594	G	A	115411594	3	1	158	1	0	0	0	0	1	0	0	0	10638	1144	40	1	4693	1	NRAP	10	115411594	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	73187	115411594	20123153	1542	85323											
ATRNL1	26033	broad.mit.edu	37	chr10	117027824	117027824	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctgatgacagatgttAcagatatgcagattgtgcca	10	7	1	5			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:117027824A>G	uc001lcg.2	+	13	2389	c.2003A>G	c.(2002-2004)TAC>TGC	p.Y668C		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	668	PSI 2.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GACAGATGTTACAGATATGCA	0.373													G	117027824	A	G	117027824	3	3	158	1	0	0	0	0	1	0	0	0	1207	391	14	3	2053	3	ATRNL1	10	117027824	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1616230	117027824	18506923	1543	85324											
HSPA12A	259217	broad.mit.edu	37	chr10	118435944	118435944	+	Frame_Shift_Del	DEL	A	A	-													atgctatcgatggtcggcttAaaaagggcgttcatggcatc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:118435944delA	uc001lct.2	-	11	1461	c.1356delT	c.(1354-1356)TTTfs	p.F452fs	HSPA12A_uc001lcu.2_Frame_Shift_Del_p.F369fs	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	452							ATP binding			ovary(1)	1				all cancers(201;0.0158)		TGGTCGGCTTAAAAAGGGCGT	0.562													-	118435944	A	-	118435944	7	5	158	1	0	1	0	1	0	0	0	0	7404	359	13	0	679	0	HSPA12A	10	118435944	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	1408120	118435944	17098803	1544	85325											
SLC18A2	6571	broad.mit.edu	37	chr10	119029967	119029967	+	Frame_Shift_Del	DEL	A	A	-													aagtccacctgccaaagaagAaaaaatggtaagaaaaattt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:119029967delA	uc001ldd.1	+	15	1464	c.1433delA	c.(1432-1434)GAAfs	p.E478fs	SLC18A2_uc009xyy.1_Frame_Shift_Del_p.E275fs	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine),	478	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity				0		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GCCAAAGAAGAAAAAATGGTA	0.373													-	119029967	A	-	119029967	7	5	158	1	0	1	0	1	0	0	0	0	14426	246	9	0	1487	0	SLC18A2	10	119029967	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	594023	119029967	16504780	1545	85326											
EIF3A	8661	broad.mit.edu	37	chr10	120801952	120801952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcagctgttcgccagcttCctctgtcctcatccagtcct	6	17	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:120801952C>T	uc001ldu.2	-	19	3226	c.3080G>A	c.(3079-3081)GGA>GAA	p.G1027E	EIF3A_uc010qsu.1_Missense_Mutation_p.G993E|EIF3A_uc009xzg.1_Missense_Mutation_p.G66E	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	1027	Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|11.				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)		TCGCCAGCTTCCTCTGTCCTC	0.587													T	120801952	C	T	120801952	3	4	158	1	0	0	0	0	1	0	0	0	5012	855	30	4	1084	4	EIF3A	10	120801952	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1771985	120801952	14732795	1546	85327											
INPP5F	22876	broad.mit.edu	37	chr10	121586929	121586929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacaccttctcggccatcGcaattagatgtctctctttc	6	14	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:121586929G>A	uc001leo.2	+	20	3202	c.3036G>A	c.(3034-3036)TCG>TCA	p.S1012S	INPP5F_uc001lep.2_Silent_p.S402S	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	1012							phosphoric ester hydrolase activity	p.S1012S(1)		ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTCGGCCATCGCAATTAGATG	0.463													A	121586929	G	A	121586929	2	1	158	1	0	0	0	0	0	0	0	1	7758	1074	38	1		1	INPP5F	10	121586929	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	784977	121586929	13947818	1547	85328											
DMBT1	1755	broad.mit.edu	37	chr10	124402674	124402674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctacggaccctactcctcGccatctcttcgcattgcccg	6	19	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:124402674G>A	uc001lgk.1	+	53	7108	c.7002G>A	c.(7000-7002)TCG>TCA	p.S2334S	DMBT1_uc001lgl.1_Silent_p.S2324S|DMBT1_uc001lgm.1_Silent_p.S1706S|DMBT1_uc009xzz.1_Silent_p.S2333S|DMBT1_uc010qtx.1_Silent_p.S1054S|DMBT1_uc009yab.1_Silent_p.S1037S|DMBT1_uc009yac.1_Silent_p.S628S	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2334	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCTACTCCTCGCCATCTCTTC	0.562													A	124402674	G	A	124402674	2	1	158	1	0	0	0	0	0	0	0	1	4577	1074	38	1		1	DMBT1	10	124402674	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2815745	124402674	11132073	1548	85329											
IKZF5	64376	broad.mit.edu	37	chr10	124758127	124758128	+	Frame_Shift_Ins	INS	-	-	T													cgaagtccaaaggctctggtINStttttttcacccatctttgc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:124758126_124758127G>GT	uc001lha.2	-	2	314_315	c.15_16C>AC	c.(13-18)aaaccafs	p.K5fs		NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	Homo sapiens IKAROS family zinc finger 5 (Pegasus) (IKZF5), mRNA.	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		AAAGGCTCTGGTTTTTTTTCAC	0.371													T	124758128	-	T	124758127	7	5	158	1	0	1	1	0	0	0	0	0	7618	1722	60	0	1256	0	IKZF5	10	124758127	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	355453	124758127	10776620	1549	85330											
ACADSB	36	broad.mit.edu	37	chr10	124803957	124803957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggacatggctataagtatGccatagggagtctcaatgaa	11	6	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:124803957G>A	uc001lhb.2	+	7	973	c.856G>A	c.(856-858)GCC>ACC	p.A286T	ACADSB_uc010qub.1_Missense_Mutation_p.A184T	NM_001609	NP_001600	P45954	ACDSB_HUMAN	acyl-Coenzyme A dehydrogenase, short/branched	286					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	CTATAAGTATGCCATAGGGAG	0.358													A	124803957	G	A	124803957	3	1	158	1	0	0	0	0	1	0	0	0	115	1319	46	2	882	2	ACADSB	10	124803957	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	45830	124803957	10730790	1550	85331											
CTBP2	1488	broad.mit.edu	37	chr10	126683154	126683154	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtagaccctctgcacgcCcagggaccgctcgatcccat	11	16	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:126683154C>A	uc009yak.2	-	7	951	c.664G>T	c.(664-666)GGC>TGC	p.G222C	CTBP2_uc009yal.2_Missense_Mutation_p.G222C|CTBP2_uc001lif.3_Missense_Mutation_p.G222C|CTBP2_uc001lih.3_Missense_Mutation_p.G222C|CTBP2_uc001lid.3_Missense_Mutation_p.G290C|CTBP2_uc001lie.3_Missense_Mutation_p.G762C	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	222					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTCTGCACGCCCAGGGACCGC	0.552													A	126683154	C	A	126683154	3	1	158	1	0	0	0	0	1	0	0	0	3998	623	22	5	693	5	CTBP2	10	126683154	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1879197	126683154	8851593	1551	85332											
MMP21	118856	broad.mit.edu	37	chr10	127459133	127459133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgcgaatccagtcaaacGcagtatcaaatgatccctca	6	12	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:127459133G>A	uc001liu.2	-	5	1007	c.1007C>T	c.(1006-1008)GCG>GTG	p.A336V		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	matrix metalloproteinase 21 preproprotein	336	Hemopexin-like 1.				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CCAGTCAAACGCAGTATCAAA	0.378													A	127459133	G	A	127459133	3	1	158	1	0	0	0	0	1	0	0	0	9660	1087	38	1	714	1	MMP21	10	127459133	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	775979	127459133	8075614	1552	85333											
FAM196A	642938	broad.mit.edu	37	chr10	128952172	128952172	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caattagctgtgtcttgcccCgtccgatatgaaagcctaca	8	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:128952172C>T	uc001lju.1	-	2	1241	c.1200G>A	c.(1198-1200)ACG>ACA	p.T400T	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Intron|FAM196A_uc001ljv.1_Silent_p.T400T|FAM196A_uc009yap.1_Intron	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	400										ovary(2)	2						TGTCTTGCCCCGTCCGATATG	0.438													T	128952172	C	T	128952172	2	4	158	1	0	0	0	0	0	0	0	1	5528	639	23	1		1	FAM196A	10	128952172	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1493039	128952172	6582575	1553	85334											
FAM196A	642938	broad.mit.edu	37	chr10	128973723	128973723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actacattcgggggacaggcActgcatcgggggtgagcagg	17	9	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:128973723A>G	uc001lju.1	-	1	978	c.937T>C	c.(937-939)TGC>CGC	p.C313R	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.C313R|FAM196A_uc001ljv.1_Missense_Mutation_p.C313R|FAM196A_uc009yap.1_Missense_Mutation_p.C313R	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	313										ovary(2)	2						GGGGACAGGCACTGCATCGGG	0.657													G	128973723	A	G	128973723	3	3	158	1	0	0	0	0	1	0	0	0	5528	159	6	3	514	3	FAM196A	10	128973723	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	21551	128973723	6561024	1554	85335											
LRRC27	80313	broad.mit.edu	37	chr10	134147114	134147114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagactaggagcttgcctgCcaccccctccaaagatgttc	8	15	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:134147114C>T	uc010quw.1	+	2	281	c.86C>T	c.(85-87)GCC>GTC	p.A29V	STK32C_uc010quu.1_5'Flank|STK32C_uc009ybc.1_5'Flank|STK32C_uc009ybd.1_5'Flank|LRRC27_uc001llf.2_Missense_Mutation_p.A29V|LRRC27_uc010quv.1_Missense_Mutation_p.A29V|LRRC27_uc001llg.2_RNA|LRRC27_uc001lli.2_Missense_Mutation_p.A29V|LRRC27_uc001llj.2_5'Flank	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27 isoform a	29										ovary(1)	1		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGCTTGCCTGCCACCCCCTCC	0.547													T	134147114	C	T	134147114	3	4	158	1	0	0	0	0	1	0	0	0	8981	739	26	2	88	2	LRRC27	10	134147114	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	5173391	134147114	1387633	1555	85336											
PWWP2B	170394	broad.mit.edu	37	chr10	134218819	134218819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtcaagatcccctcccGcgtgcacggctctctggagc	13	15	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:134218819G>A	uc001lll.3	+	2	844	c.815G>A	c.(814-816)CGC>CAC	p.R272H	PWWP2B_uc009ybe.2_Missense_Mutation_p.R272H	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2 isoform 1	272											0		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		ATCCCCTCCCGCGTGCACGGC	0.711													A	134218819	G	A	134218819	3	1	158	1	0	0	0	0	1	0	0	0	12846	1087	38	1	821	1	PWWP2B	10	134218819	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	71705	134218819	1315928	1556	85337											
C10orf93	255352	broad.mit.edu	37	chr10	134752108	134752108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacagcatcagctcagcaCgccactccttgtcttcctcc	5	19	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:134752108C>T	uc001llt.1	-	5	597	c.521G>A	c.(520-522)CGT>CAT	p.R174H	C10orf93_uc001llu.2_Missense_Mutation_p.R174H	NM_173572	NP_775843	Q5SR76	CJ093_HUMAN	hypothetical protein LOC255352	174							binding			pancreas(1)	1		all_cancers(35;1.8e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Colorectal(31;0.119)|Glioma(114;0.172)|Melanoma(40;0.175)		Epithelial(32;4.28e-05)|OV - Ovarian serous cystadenocarcinoma(35;4.31e-05)|all cancers(32;5.02e-05)		CAGCTCAGCACGCCACTCCTT	0.622													T	134752108	C	T	134752108	3	4	158	1	0	0	0	0	1	0	0	0	1625	536	19	1	716	1	C10orf93	10	134752108	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	533289	134752108	782639	1557	85338											
MTG1	92170	broad.mit.edu	37	chr10	135233645	135233645	+	Frame_Shift_Del	DEL	C	C	-													ctcgacgtcctgcggggccaCcccccggctgagactttgcc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:135233644_135233644AC>A	uc001lnd.3	+	10	1084	c.980_980AC>A	c.(979-981)cacfs	p.H327fs	MTG1_uc010qve.2_Frame_Shift_Del_p.H192fs	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN	Homo sapiens mitochondrial GTPase 1 homolog (S. cerevisiae) (MTG1), nuclear gene encoding mitochondrial protein, mRNA.	327						mitochondrion	GTP binding|protein binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		CTGCGGGGCCACCCCCCGGCT	0.642													-	135233645	C	-	135233645	7	5	158	1	0	1	0	1	0	0	0	0	9926	506	18	0	1023	0	MTG1	10	135233645	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	481537	135233645	301102	1558	85339											
ANO9	338440	broad.mit.edu	37	chr11	428583	428583	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgagctgctgaagagcgcGgaggccaggacgcggtagac	18	11	0	3	rs115389769	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:428583G>A	uc001lpi.2	-	13	1162	c.1077C>T	c.(1075-1077)TCC>TCT	p.S359S	ANO9_uc001lph.2_Silent_p.S52S|ANO9_uc010qvv.1_Silent_p.S215S	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	359	Extracellular (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						TGAAGAGCGCGGAGGCCAGGA	0.672													A	428583	G	A	428583	2	1	158	1	0	0	0	0	0	0	0	1	704	1103	39	1		1	ANO9	11	428583	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08		428583	134577933	1559	85340											
PHRF1	57661	broad.mit.edu	37	chr11	607394	607394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccccttgcctctgccgcGtctaagatctcaagcagaga	9	14	3	2	rs138408584	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:607394G>A	uc001lqe.2	+	14	2069	c.1938G>A	c.(1936-1938)GCG>GCA	p.A646A	PHRF1_uc010qwc.1_Silent_p.A645A|PHRF1_uc010qwd.1_Silent_p.A644A|PHRF1_uc010qwe.1_Silent_p.A642A|PHRF1_uc009ybz.1_Silent_p.A436A|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	646							RNA polymerase binding|zinc ion binding				0						CCTCTGCCGCGTCTAAGATCT	0.587													A	607394	G	A	607394	2	1	158	1	0	0	0	0	0	0	0	1	11861	1132	40	1		1	PHRF1	11	607394	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	178811	607394	134399122	1560	85341											
DRD4	1815	broad.mit.edu	37	chr11	639920	639920	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcctgcagcgctgggaggTggcacgtcgcgccaagctgc	17	14	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:639920T>C	uc001lqp.1	+	3	671	c.671T>C	c.(670-672)GTG>GCG	p.V224A		NM_000797	NP_000788	P21917	DRD4_HUMAN	dopamine receptor D4	224	Cytoplasmic (Potential).				activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding				0		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)	CGCTGGGAGGTGGCACGTCGC	0.741													C	639920	T	C	639920	3	2	158	1	0	0	0	0	1	0	0	0	4759	1696	59	3	681	3	DRD4	11	639920	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	32526	639920	134366596	1561	85342											
LRDD	55367	broad.mit.edu	37	chr11	800161	800161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggcagagtggccatccaCagggcgtctgcgcccttcct	13	14	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:800161C>T	uc001lro.1	-	14	2386	c.2244G>A	c.(2242-2244)CTG>CTA	p.L748L	SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Silent_p.L731L|LRDD_uc001lrl.1_Silent_p.L591L|LRDD_uc001lrm.1_Silent_p.L435L|LRDD_uc001lrn.1_Silent_p.L591L|LRDD_uc001lrp.1_Silent_p.L393L	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing	748					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGCCATCCACAGGGCGTCTG	0.687													T	800161	C	T	800161	2	4	158	1	0	0	0	0	0	0	0	1	8936	465	17	4		4	LRDD	11	800161	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	160241	800161	134206355	1562	85343											
AP2A2	161	broad.mit.edu	37	chr11	993307	993307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaggctcccgcgtgccaCgagaacctggtcaaagtggg	13	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:993307C>T	uc001lss.2	+	12	1657	c.1476C>T	c.(1474-1476)CAC>CAT	p.H492H	AP2A2_uc001lst.1_Silent_p.H493H|AP2A2_uc009yco.1_RNA|AP2A2_uc009ycq.1_Silent_p.H83H	NM_012305	NP_036437	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2	492					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCGCGTGCCACGAGAACCTGG	0.632													T	993307	C	T	993307	2	4	158	1	0	0	0	0	0	0	0	1	740	535	19	1		1	AP2A2	11	993307	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	193146	993307	134013209	1563	85344											
MUC6	4588	broad.mit.edu	37	chr11	1027176	1027176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgctgcgggcaactcagcCgcccgttgatgcagtggctg	15	14	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:1027176C>T	uc001lsw.2	-	18	2300	c.2249G>A	c.(2248-2250)CGG>CAG	p.R750Q		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	750					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAACTCAGCCGCCCGTTGAT	0.692													T	1027176	C	T	1027176	3	4	158	1	0	0	0	0	1	0	0	0	9980	652	23	1	5134	1	MUC6	11	1027176	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	33869	1027176	133979340	1564	85345											
MUC6	4588	broad.mit.edu	37	chr11	1027310	1027319	+	Frame_Shift_Del	DEL	AACTTGTAAC	AACTTGTAAC	-													tggactgctcggccaggatgAacttgtaaccctccagtatg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:1027309_1027318GAACTTGTAAC>G	uc001lsw.2	-	16	2232_2241	c.2181_2190GTTACAAGTTC>C	c.(2179-2190)ggttacaagttcfs	p.G727fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	727					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGCCAGGATGAACTTGTAACCCTCCAGTA	0.662													-	1027319	AACTTGTAAC	-	1027310	7	5	158	1	0	1	0	1	0	0	0	0	9980	246	9	0	5198	0	MUC6	11	1027310	Frame_Shift_Del	DEL	AACTTGTAAC	TCGA-CD-A4MG-01A-11D-A25D-08	134	1027310	133979206	1565	85346											
MUC5B	727897	broad.mit.edu	37	chr11	1264182	1264182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacctccacagtgcttacCgccacggccaccacaactgg	7	19	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:1264182C>T	uc009ycr.1	+	47	8277	c.8151C>T	c.(8149-8151)ACC>ACT	p.T2717T	MUC5B_uc001ltb.2_Silent_p.T2027T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2024	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGTGCTTACCGCCACGGCCA	0.642													T	1264182	C	T	1264182	2	4	158	1	0	0	0	0	0	0	0	1	9979	639	23	1		1	MUC5B	11	1264182	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	236872	1264182	133742334	1566	85347											
MUC5B	727897	broad.mit.edu	37	chr11	1264202	1264202	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccacggccaccacaactgGggccaccggctctgtggcca	12	18	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:1264202G>T	uc009ycr.1	+	47	8297	c.8171G>T	c.(8170-8172)GGG>GTG	p.G2724V	MUC5B_uc001ltb.2_Missense_Mutation_p.G2034V	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2031	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACAACTGGGGCCACCGGC	0.647													T	1264202	G	T	1264202	3	4	158	1	0	0	0	0	1	0	0	0	9979	1232	43	5	6223	5	MUC5B	11	1264202	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	20	1264202	133742314	1567	85348											
NAP1L4	4676	broad.mit.edu	37	chr11	2991167	2991167	+	Splice_Site	DEL	A	A	-													tttacttttcatgtctccctAaaaaaaagatgcaacatagg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:2991166_2991166TA>T	uc010qxm.2	-	8	687	c.403_splice	c.e8-1	p.G135_splice	NAP1L4_uc001lxc.3_Splice_Site_p.G135_splice|NAP1L4_uc010qxn.2_Splice_Site_p.G135_splice	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.	135					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		CATGTCTCCCTAAAAAAAAGA	0.418													-	2991167	A	-	2991167	8	5	158	1	0	1	0	1	0	0	1	0	10159	377	13	0		0	NAP1L4	11	2991167	Splice_Site	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	1726965	2991167	132015349	1568	85349											
NAP1L4	4676	broad.mit.edu	37	chr11	2997297	2997297	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagggacattgtcaagtcGctcctgtaaagctgccagaa	12	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:2997297G>A	uc001lxc.2	-	4	271	c.130C>T	c.(130-132)CGA>TGA	p.R44*	NAP1L4_uc010qxm.1_Nonsense_Mutation_p.R44*|NAP1L4_uc010qxn.1_Nonsense_Mutation_p.R44*	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	44					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			ovary(1)	1		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		TTGTCAAGTCGCTCCTGTAAA	0.428													A	2997297	G	A	2997297	4	1	158	1	0	0	0	0	0	1	0	0	10159	1095	38	1	1045	1	NAP1L4	11	2997297	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	6130	2997297	132009219	1569	85350											
ZNF195	7748	broad.mit.edu	37	chr11	3380735	3380735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgataactgcttaaagatGttgccacattcttcacacgt	6	10	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:3380735G>A	uc001lxt.2	-	6	1681	c.1503C>T	c.(1501-1503)AAC>AAT	p.N501N	uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Silent_p.N478N|ZNF195_uc001lxs.2_Silent_p.N429N|ZNF195_uc010qxr.1_Silent_p.N482N|ZNF195_uc009ydz.2_Silent_p.N456N|ZNF195_uc001lxu.2_Silent_p.N433N	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	zinc finger protein 195 isoform 1	501	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCTTAAAGATGTTGCCACATT	0.413													A	3380735	G	A	3380735	2	1	158	1	0	0	0	0	0	0	0	1	17755	1368	48	4		4	ZNF195	11	3380735	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	383438	3380735	131625781	1570	85351											
NUP98	4928	broad.mit.edu	37	chr11	3723954	3723954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaacggaacctcagggGctgggctgggcattgtgaac	14	9	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:3723954G>A	uc001lyh.2	-	23	3542	c.3251C>T	c.(3250-3252)GCC>GTC	p.A1084V	NUP98_uc001lyi.2_Missense_Mutation_p.A1084V|NUP98_uc001lyg.2_Intron	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1101					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AACCTCAGGGGCTGGGCTGGG	0.517			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								A	3723954	G	A	3723954	3	1	158	1	0	0	0	0	1	0	0	0	10773	1203	42	2	2195	2	NUP98	11	3723954	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	343219	3723954	131282562	1571	85352											
TRIM68	55128	broad.mit.edu	37	chr11	4621678	4621678	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaatgtcatgggcctcaTaatccacgaagattcccacc	7	12	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:4621678T>C	uc001lzf.1	-	7	1524	c.1286A>G	c.(1285-1287)TAT>TGT	p.Y429C	TRIM68_uc001lzg.1_Missense_Mutation_p.Y206C|TRIM68_uc010qyj.1_RNA	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	ring finger protein 137	429	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATGGGCCTCATAATCCACGAA	0.547													C	4621678	T	C	4621678	3	2	158	1	0	0	0	0	1	0	0	0	16538	1406	49	3	175	3	TRIM68	11	4621678	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	897724	4621678	130384838	1572	85353											
OR51F1	256892	broad.mit.edu	37	chr11	4790421	4790421	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcccacatgggagacacAggtgctgaagaccttgtgcc	12	12	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:4790421A>G	uc010qyl.1	-	1	727	c.727T>C	c.(727-729)TGT>CGT	p.C243R		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F,	243						integral to membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGGGAGACACAGGTGCTGAAG	0.483													G	4790421	A	G	4790421	3	3	158	1	0	0	0	0	1	0	0	0	11096	188	7	3	214	3	OR51F1	11	4790421	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	168743	4790421	130216095	1573	85354											
OR51S1	119692	broad.mit.edu	37	chr11	4870217	4870217	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatccaatatcagacacactAagcaagaagaggaagaagtg	9	7	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:4870217A>G	uc010qyo.1	-	1	222	c.222T>C	c.(220-222)CTT>CTC	p.L74L		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	74	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGACACACTAAGCAAGAAGA	0.572													G	4870217	A	G	4870217	2	3	158	1	0	0	0	0	0	0	0	1	11105	349	13	3		3	OR51S1	11	4870217	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	79796	4870217	130136299	1574	85355											
OR51G2	81282	broad.mit.edu	37	chr11	4936509	4936509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggggtggcagatagccaCaaagcggtcaaaggccatag	14	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:4936509C>T	uc001lzr.1	-	1	385	c.385G>A	c.(385-387)GTG>ATG	p.V129M		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGATAGCCACAAAGCGGTCA	0.488													T	4936509	C	T	4936509	3	4	158	1	0	0	0	0	1	0	0	0	11099	478	17	4	563	4	OR51G2	11	4936509	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	66292	4936509	130070007	1575	85356											
UBQLN3	50613	broad.mit.edu	37	chr11	5529133	5529133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacctcctgccacactaccCgtccctgctaggcaaggcat	7	17	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:5529133C>T	uc001may.1	-	2	1742	c.1656G>A	c.(1654-1656)ACG>ACA	p.T552T	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	552										ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACACTACCCGTCCCTGCTA	0.567													T	5529133	C	T	5529133	2	4	158	1	0	0	0	0	0	0	0	1	16895	639	23	1		1	UBQLN3	11	5529133	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	592624	5529133	129477383	1576	85357											
CNGA4	1262	broad.mit.edu	37	chr11	6261425	6261425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctacgtgcggctgggccCgcacacacccaccctgaggc	13	17	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:6261425C>T	uc001mco.2	+	4	508	c.401C>T	c.(400-402)CCG>CTG	p.P134L	CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.P94L	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	134	Extracellular (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGCTGGGCCCGCACACACCC	0.617													T	6261425	C	T	6261425	3	4	158	1	0	0	0	0	1	0	0	0	3599	652	23	1	415	1	CNGA4	11	6261425	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	732292	6261425	128745091	1577	85358											
CCKBR	887	broad.mit.edu	37	chr11	6292399	6292400	+	Frame_Shift_Ins	INS	-	-	A													ctcccggcccacccaggccaINSagctgctggctaagaagcgc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:6292398_6292399C>CA	uc001mcp.3	+	4	1224_1225	c.969_970C>CA	c.(967-972)gccaagfs	p.A323fs	CCKBR_uc001mcq.3_Frame_Shift_Ins_p.A251fs|CCKBR_uc001mcr.3_Frame_Shift_Ins_p.A323fs|CCKBR_uc001mcs.3_Frame_Shift_Ins_p.A392fs|CCKBR_uc001mct.1_Non-coding_Transcript	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	323					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CCACCCAGGCCAAGCTGCTGGC	0.624													A	6292400	-	A	6292399	7	5	158	1	0	1	1	0	0	0	0	0	2881	131	5	0	988	0	CCKBR	11	6292399	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	30974	6292399	128714117	1578	85359											
CCKBR	887	broad.mit.edu	37	chr11	6292700	6292700	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggctcttcccgatgaggAccctcccactccctccattg	8	18	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:6292700A>G	uc001mcp.2	+	5	1464	c.1271A>G	c.(1270-1272)GAC>GGC	p.D424G	CCKBR_uc001mcq.2_Missense_Mutation_p.D352G|CCKBR_uc001mcr.2_Missense_Mutation_p.D407G|CCKBR_uc001mcs.2_Missense_Mutation_p.D493G	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	424	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CCCGATGAGGACCCTCCCACT	0.657													G	6292700	A	G	6292700	3	3	158	1	0	0	0	0	1	0	0	0	2881	275	10	3	1289	3	CCKBR	11	6292700	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	301	6292700	128713816	1579	85360											
SMPD1	6609	broad.mit.edu	37	chr11	6415678	6415678	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtttctctaccataagggCcacccaccctcggagccctg	9	16	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:6415678C>T	uc001mcw.2	+	6	1911	c.1737C>T	c.(1735-1737)GGC>GGT	p.G579G	SMPD1_uc001mcv.1_RNA|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Silent_p.G535G|SMPD1_uc009yew.2_Silent_p.G578G	NM_000543	NP_000534	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid	577			G -> S (in NPDA; also in patients with an intermediate form).		cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	ACCATAAGGGCCACCCACCCT	0.622													T	6415678	C	T	6415678	2	4	158	1	0	0	0	0	0	0	0	1	14804	726	26	2		2	SMPD1	11	6415678	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	122978	6415678	128590838	1580	85361											
APBB1	322	broad.mit.edu	37	chr11	6432422	6432422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaccctcccccatggcGctgcgcaggtccttgggtcc	10	20	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:6432422G>A	uc001mdb.1	-	2	256	c.156C>T	c.(154-156)AGC>AGT	p.S52S	APBB1_uc001mdc.1_Silent_p.S52S|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	52					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCCCCATGGCGCTGCGCAGGT	0.697													A	6432422	G	A	6432422	2	1	158	1	0	0	0	0	0	0	0	1	759	1078	38	1		1	APBB1	11	6432422	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	16744	6432422	128574094	1581	85362											
DNHD1	144132	broad.mit.edu	37	chr11	6540866	6540866	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacatgcaacagtgcctaCaggagcgagtacaaaactgt	9	11	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:6540866C>T	uc001mdw.3	+	8	1993	c.1429C>T	c.(1429-1431)CAG>TAG	p.Q477*	DNHD1_uc001mdp.2_Nonsense_Mutation_p.Q477*|DNHD1_uc001mdq.2_Nonsense_Mutation_p.Q166*	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	477					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACAGTGCCTACAGGAGCGAGT	0.522													T	6540866	C	T	6540866	4	4	158	1	0	0	0	0	0	1	0	0	4668	479	17	4	1451	4	DNHD1	11	6540866	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	108444	6540866	128465650	1582	85363											
DCHS1	8642	broad.mit.edu	37	chr11	6646079	6646079	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatggcactgcctgggggTgtgtgctcaagcagcattac	14	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:6646079T>G	uc001mem.1	-	20	7577	c.7167A>C	c.(7165-7167)ACA>ACC	p.T2389T		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2389	Cadherin 23.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCTGGGGGTGTGTGCTCAA	0.562													G	6646079	T	G	6646079	2	3	158	1	0	0	0	0	0	0	0	1	4287	1683	59	5		5	DCHS1	11	6646079	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	105213	6646079	128360437	1583	85364											
OR10A4	283297	broad.mit.edu	37	chr11	6898661	6898661	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgccatcctcacgtatttCcgaccccaatccagtgcctc	5	18	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:6898661C>T	uc010rat.1	+	1	783	c.783C>T	c.(781-783)TTC>TTT	p.F261F		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCACGTATTTCCGACCCCAAT	0.532													T	6898661	C	T	6898661	2	4	158	1	0	0	0	0	0	0	0	1	10892	854	30	4		4	OR10A4	11	6898661	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	252582	6898661	128107855	1584	85365											
NLRP14	338323	broad.mit.edu	37	chr11	7079548	7079548	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacagaggctggctgtgagTatctttctttggctctcatc	10	10	4	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:7079548T>C	uc001mfb.1	+	8	2823	c.2500T>C	c.(2500-2502)TAT>CAT	p.Y834H		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	834	LRR 4.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGGCTGTGAGTATCTTTCTTT	0.448													C	7079548	T	C	7079548	3	2	158	1	0	0	0	0	1	0	0	0	10476	1638	57	3	2526	3	NLRP14	11	7079548	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	180887	7079548	127926968	1585	85366											
CYB5R2	51700	broad.mit.edu	37	chr11	7689748	7689748	+	Frame_Shift_Del	DEL	T	T	-													tcccaggtgatcggccagtgTttttttaggctcactcgtct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:7689747_7689747GT>G	uc001mfm.3	-	5	672	c.434_434AC>C	c.(433-435)acafs	p.T145fs	CYB5R2_uc001mfn.3_Non-coding_Transcript|CYB5R2_uc009yfk.3_Frame_Shift_Del_p.T145fs|CYB5R2_uc009yfl.1_3'UTR	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	Homo sapiens cytochrome b5 reductase 2 (CYB5R2), mRNA.	145					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATCGGCCAGTGTTTTTTTAGG	0.522													-	7689748	T	-	7689748	7	5	158	1	0	1	0	1	0	0	0	0	4127	1725	60	0	413	0	CYB5R2	11	7689748	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	610200	7689748	127316768	1586	85367											
OR5P2	120065	broad.mit.edu	37	chr11	7817567	7817567	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactaaaataacaagcatcaTgagaaagtatttttctaaca	4	6	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:7817567T>C	uc001mfp.1	-	1	923	c.923A>G	c.(922-924)CAT>CGT	p.H308R		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACAAGCATCATGAGAAAGTAT	0.383													C	7817567	T	C	7817567	3	2	158	1	0	0	0	0	1	0	0	0	11178	1464	51	3	49	3	OR5P2	11	7817567	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	127819	7817567	127188949	1587	85368											
AMPD3	272	broad.mit.edu	37	chr11	10527420	10527420	+	Frame_Shift_Del	DEL	T	T	-													aatcagaagagatcaccgccTtgaccaactaggtccagcat							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:10527419_10527419CT>C	uc001min.1	+	14	2664	c.2319_2319CT>C	c.(2317-2319)gccfs	p.A773fs	AMPD3_uc010rbz.1_Frame_Shift_Del_p.A605fs|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Frame_Shift_Del_p.A764fs|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Frame_Shift_Del_p.A771fs|AMPD3_uc009yfy.2_Frame_Shift_Del_p.A764fs	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	764					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.A773S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AGATCACCGCCTTGACCAACT	0.433													-	10527420	T	-	10527420	7	5	158	1	0	1	0	1	0	0	0	0	587	1606	56	0	2398	0	AMPD3	11	10527420	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	2709853	10527420	124479096	1588	85369											
GALNTL4	374378	broad.mit.edu	37	chr11	11470434	11470434	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccagtgtgcaaacagagaGgagtctgtgaagggctcggc	15	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:11470434G>T	uc001mjo.2	-	2	706	c.285C>A	c.(283-285)TCC>TCA	p.S95S		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	95	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		CAAACAGAGAGGAGTCTGTGA	0.617													T	11470434	G	T	11470434	2	4	158	1	0	0	0	0	0	0	0	1	6223	987	35	5		5	GALNTL4	11	11470434	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	943014	11470434	123536082	1589	85370											
GALNTL4	374378	broad.mit.edu	37	chr11	11643004	11643004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcttcttgtcgggcgccGgctcctgcccccgcacatac	10	19	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:11643004G>A	uc001mjo.2	-	1	558	c.137C>T	c.(136-138)CCG>CTG	p.P46L		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	46	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		GTCGGGCGCCGGCTCCTGCCC	0.562													A	11643004	G	A	11643004	3	1	158	1	0	0	0	0	1	0	0	0	6223	1116	39	1	1730	1	GALNTL4	11	11643004	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	172570	11643004	123363512	1590	85371											
PDE3B	5140	broad.mit.edu	37	chr11	14882859	14882859	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaatggcccagcaaaagttCgagacttgcatttgaaatgg	10	7	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:14882859C>T	uc001mln.2	+	14	3186	c.2833C>T	c.(2833-2835)CGA>TGA	p.R945*	PDE3B_uc010rcr.1_Nonsense_Mutation_p.R894*	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	945	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						AGCAAAAGTTCGAGACTTGCA	0.403													T	14882859	C	T	14882859	4	4	158	1	0	0	0	0	0	1	0	0	11638	876	31	1	2887	1	PDE3B	11	14882859	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	3239855	14882859	120123657	1591	85372											
RPS13	6207	broad.mit.edu	37	chr11	17099016	17099016	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggtaaagccgactgggacAggcccttcctggggagagaa	16	9	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:17099016A>G	uc001mmp.2	-	2	64	c.32T>C	c.(31-33)CTG>CCG	p.L11P		NM_001017	NP_001008	P62277	RS13_HUMAN	ribosomal protein S13	11					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome				0						CGACTGGGACAGGCCCTTCCT	0.647													G	17099016	A	G	17099016	3	3	158	1	0	0	0	0	1	0	0	0	13623	188	7	3	443	3	RPS13	11	17099016	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	2216157	17099016	117907500	1592	85373											
ABCC8	6833	broad.mit.edu	37	chr11	17496449	17496449	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacccatcagacaggatgcCctctgcaatctcacacacca	5	17	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:17496449C>A	uc001mnc.2	-	2	400	c.274G>T	c.(274-276)GGC>TGC	p.G92C	ABCC8_uc010rcy.1_Missense_Mutation_p.G92C	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	92	Helical; Name=2; (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GACAGGATGCCCTCTGCAATC	0.542													A	17496449	C	A	17496449	3	1	158	1	0	0	0	0	1	0	0	0	58	623	22	5	4623	5	ABCC8	11	17496449	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	397433	17496449	117510067	1593	85374											
KCNC1	3746	broad.mit.edu	37	chr11	17758047	17758047	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccggatggccggcctggCggcttttggcgccgctggca	16	15	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:17758047C>T	uc001mnk.3	+	1	553	c.498C>T	c.(496-498)GGC>GGT	p.G166G	KCNC1_uc009yhc.1_Silent_p.G166G	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	166	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						GCCGGCCTGGCGGCTTTTGGC	0.687													T	17758047	C	T	17758047	2	4	158	1	0	0	0	0	0	0	0	1	8014	755	27	1		1	KCNC1	11	17758047	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	261598	17758047	117248469	1594	85375											
HPS5	11234	broad.mit.edu	37	chr11	18316699	18316699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcttctcagtagttttaCgcacaaagctagaaacacta	5	10	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:18316699C>T	uc001mod.1	-	14	1930	c.1652G>A	c.(1651-1653)CGT>CAT	p.R551H	HPS5_uc001moe.1_Missense_Mutation_p.R437H|HPS5_uc001mof.1_Missense_Mutation_p.R437H	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5 isoform a	551						cytosol				ovary(1)|pancreas(1)|skin(1)	3						AGTAGTTTTACGCACAAAGCT	0.398									Hermansky-Pudlak_syndrome				T	18316699	C	T	18316699	3	4	158	1	0	0	0	0	1	0	0	0	7342	536	19	1	1777	1	HPS5	11	18316699	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	558652	18316699	116689817	1595	85376											
SPTY2D1	144108	broad.mit.edu	37	chr11	18638501	18638501	+	Frame_Shift_Del	DEL	T	T	-													acacctttaacttttgggtcTttttttggaggccccactgc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:18638500_18638500CT>C	uc001moy.3	-	1	313	c.97_97AG>G	c.(97-99)gacfs	p.D33fs	SPTY2D1_uc010rdi.1_Frame_Shift_Del_p.D33fs	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.	33										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						ACTTTTGGGTCTTTTTTTGGA	0.343													-	18638501	T	-	18638501	7	5	158	1	0	1	0	1	0	0	0	0	15125	1606	56	0	1981	0	SPTY2D1	11	18638501	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	321802	18638501	116368015	1596	85377											
NAV2	89797	broad.mit.edu	37	chr11	19735499	19735499	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctcggtggaaaacgggttCgatacccaggtgagagatgc	16	8	0	2	rs147977739		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:19735499C>T	uc010rdm.1	+	1	619	c.258C>T	c.(256-258)TTC>TTT	p.F86F	NAV2_uc001mpp.2_Intron|NAV2_uc001mpr.3_Silent_p.F86F|LOC100126784_uc010rdl.1_3'UTR	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	86	CH.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						AAAACGGGTTCGATACCCAGG	0.607													T	19735499	C	T	19735499	2	4	158	1	0	0	0	0	0	0	0	1	10184	883	31	1		1	NAV2	11	19735499	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1096998	19735499	115271017	1597	85378											
NAV2	89797	broad.mit.edu	37	chr11	20112544	20112544	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	accagctggaccagctccggGaggccatgaacaggatgcag	14	12	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:20112544G>T	uc001mpr.3	+	27	6002	c.5641G>T	c.(5641-5643)GAG>TAG	p.E1881*	NAV2_uc001mpp.2_Nonsense_Mutation_p.E1814*|NAV2_uc009yhx.2_Nonsense_Mutation_p.E942*|NAV2_uc009yhz.2_Nonsense_Mutation_p.E523*|NAV2_uc001mpu.2_Nonsense_Mutation_p.E316*	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	1937	Potential.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						CCAGCTCCGGGAGGCCATGAA	0.567													T	20112544	G	T	20112544	4	4	158	1	0	0	0	0	0	1	0	0	10184	1175	41	5	5856	5	NAV2	11	20112544	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	377045	20112544	114893972	1598	85379											
NELL1	4745	broad.mit.edu	37	chr11	20940856	20940856	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaataatggatttacaagaGcttttggccaagatgactgc	11	6	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:20940856G>A	uc001mqe.2	+	7	888	c.735G>A	c.(733-735)GAG>GAA	p.E245E	NELL1_uc001mqf.2_Silent_p.E245E|NELL1_uc009yid.2_Silent_p.E273E|NELL1_uc010rdo.1_Silent_p.E188E|NELL1_uc010rdp.1_Silent_p.E5E	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	245					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						ATTTACAAGAGCTTTTGGCCA	0.303													A	20940856	G	A	20940856	2	1	158	1	0	0	0	0	0	0	0	1	10333	962	34	2		2	NELL1	11	20940856	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	828312	20940856	114065660	1599	85380											
BBOX1	8424	broad.mit.edu	37	chr11	27148884	27148884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcttacttcatggccgaCgtagctatgaagcaggaact	12	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:27148884C>T	uc001mre.1	+	9	1416	c.1048C>T	c.(1048-1050)CGT>TGT	p.R350C	BBOX1_uc009yih.1_Missense_Mutation_p.R350C|BBOX1_uc001mrg.1_Missense_Mutation_p.R350C	NM_003986	NP_003977	O75936	BODG_HUMAN	gamma-butyrobetaine dioxygenase	350					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1					Succinic acid(DB00139)|Vitamin C(DB00126)	TCATGGCCGACGTAGCTATGA	0.413													T	27148884	C	T	27148884	3	4	158	1	0	0	0	0	1	0	0	0	1334	536	19	1	1074	1	BBOX1	11	27148884	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	6208028	27148884	107857632	1600	85381											
ELP4	26610	broad.mit.edu	37	chr11	31653829	31653829	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacctttatggggagacgaTatttgctgtgcagaaaatgg	12	6	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:31653829T>C	uc001mtb.2	+	7	839	c.804T>C	c.(802-804)GAT>GAC	p.D268D	ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Silent_p.D268D|ELP4_uc010rdz.1_Silent_p.D269D	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN	elongation protein 4 homolog	268					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3	Lung SC(675;0.225)					GGGGAGACGATATTTGCTGTG	0.398													C	31653829	T	C	31653829	2	2	158	1	0	0	0	0	0	0	0	1	5082	1403	49	3		3	ELP4	11	31653829	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	4504945	31653829	103352687	1601	85382											
WT1	7490	broad.mit.edu	37	chr11	32421518	32421518	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcctctgaagacaccgtgCgtgtgtattctgtattgggc	12	9	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:32421518C>T	uc001mtn.1	-	6	1270	c.1074G>A	c.(1072-1074)ACG>ACA	p.T358T	WT1_uc001mtl.1_Silent_p.T146T|WT1_uc001mtm.1_Silent_p.T129T|WT1_uc001mto.1_Silent_p.T358T|WT1_uc001mtp.1_Silent_p.T341T|WT1_uc001mtq.1_Silent_p.T341T|WT1_uc009yjs.1_RNA	NM_024426	NP_077744	P19544	WT1_HUMAN	Wilms tumor 1 isoform D	290					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.K358fs*4(1)	EWSR1/WT1(231)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			AGACACCGTGCGTGTGTATTC	0.562			D|Mis|N|F|S	EWSR1	Wilms|desmoplastic small round cell tumor	Wilms			Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				T	32421518	C	T	32421518	2	4	158	1	0	0	0	0	0	0	0	1	17405	755	27	1		1	WT1	11	32421518	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	767689	32421518	102584998	1602	85383											
LMO2	4005	broad.mit.edu	37	chr11	33881009	33881009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaaatgcttctgacaggCggcgcatttgaaacattcca	9	10	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:33881009C>T	uc001mve.2	-	3	809	c.370G>A	c.(370-372)GCC>ACC	p.A124T	LMO2_uc001mvc.2_Missense_Mutation_p.A117T|LMO2_uc001mvd.2_Missense_Mutation_p.A117T|LMO2_uc010rel.1_Missense_Mutation_p.A124T|LMO2_uc010rem.1_Missense_Mutation_p.A193T	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN	LIM domain only 2 isoform 2	124	LIM zinc-binding 2.				multicellular organismal development	nucleus	protein binding|zinc ion binding			lung(1)	1						TTCTGACAGGCGGCGCATTTG	0.483			T	TRD@	T-ALL								T	33881009	C	T	33881009	3	4	158	1	0	0	0	0	1	0	0	0	8852	768	27	1	110	1	LMO2	11	33881009	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1459491	33881009	101125507	1603	85384											
ABTB2	25841	broad.mit.edu	37	chr11	34378361	34378361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacacctccccgcctccgGcccctccgccatcagggctg	9	22	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:34378361G>A	uc001mvl.1	-	1	442	c.212C>T	c.(211-213)GCC>GTC	p.A71V		NM_145804	NP_665803	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing	71							DNA binding			central_nervous_system(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CCCGCCTCCGGCCCCTCCGCC	0.657													A	34378361	G	A	34378361	3	1	158	1	0	0	0	0	1	0	0	0	103	1203	42	2	2375	2	ABTB2	11	34378361	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	497352	34378361	100628155	1604	85385											
LDLRAD3	143458	broad.mit.edu	37	chr11	36119923	36119923	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgctaccactgcaagaaCggcctctgtattgacaagag	10	13	1	3	rs143972981		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:36119923C>T	uc001mwk.1	+	4	403	c.366C>T	c.(364-366)AAC>AAT	p.N122N	LDLRAD3_uc010rey.1_Silent_p.N73N|LDLRAD3_uc010rez.1_Translation_Start_Site|LDLRAD3_uc010rfa.1_RNA	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain	122	Extracellular (Potential).|LDL-receptor class A 3.					integral to membrane	receptor activity			central_nervous_system(1)	1	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				ACTGCAAGAACGGCCTCTGTA	0.517													T	36119923	C	T	36119923	2	4	158	1	0	0	0	0	0	0	0	1	8707	535	19	1		1	LDLRAD3	11	36119923	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1741562	36119923	98886593	1605	85386											
ACCSL	390110	broad.mit.edu	37	chr11	44069803	44069803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcatgaagcccttctgagtCgcttaatatgccggatgatc	10	10	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:44069803C>T	uc001mxw.1	+	1	273	c.217C>T	c.(217-219)CGC>TGC	p.R73C	ACCSL_uc009ykr.2_5'UTR	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	73							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						CCTTCTGAGTCGCTTAATATG	0.582													T	44069803	C	T	44069803	3	4	158	1	0	0	0	0	1	0	0	0	134	884	31	1	219	1	ACCSL	11	44069803	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	7949880	44069803	90936713	1606	85387											
ALX4	60529	broad.mit.edu	37	chr11	44296994	44296994	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaagaccttctccagctcCtccagctggtagctggtgaa	11	12	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:44296994C>A	uc001myb.2	-	2	785	c.681G>T	c.(679-681)GAG>GAT	p.E227D		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	227	Homeobox.				hair follicle development						0						TCTCCAGCTCCTCCAGCTGGT	0.617													A	44296994	C	A	44296994	3	1	158	1	0	0	0	0	1	0	0	0	558	680	24	5	566	5	ALX4	11	44296994	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	227191	44296994	90709522	1607	85388											
PRDM11	56981	broad.mit.edu	37	chr11	45204467	45204467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccaaaccatggccccccGgtgtttgtgtctgacacacc	9	16	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:45204467G>A	uc001myo.2	+	5	630	c.381G>A	c.(379-381)CCG>CCA	p.P127P		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	PR domain containing 11	127										upper_aerodigestive_tract(1)	1						ATGGCCCCCCGGTGTTTGTGT	0.607													A	45204467	G	A	45204467	2	1	158	1	0	0	0	0	0	0	0	1	12452	1103	39	1		1	PRDM11	11	45204467	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	907473	45204467	89802049	1608	85389											
AMBRA1	55626	broad.mit.edu	37	chr11	46419038	46419039	+	Frame_Shift_Ins	INS	-	-	C													cccctagggcctgcagcgtcINSccccctgctgctgccaccat							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:46419037_46419038T>TC	uc001ncv.2	-	19	4182_4183	c.3868_3869A>GA	c.(3868-3870)gacfs	p.D1290fs	AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Frame_Shift_Ins_p.D1258fs|AMBRA1_uc001ncu.1_Frame_Shift_Ins_p.D1197fs|AMBRA1_uc010rgu.1_Frame_Shift_Ins_p.D1287fs|AMBRA1_uc001ncw.2_Frame_Shift_Ins_p.D1168fs|AMBRA1_uc001ncx.2_Frame_Shift_Ins_p.D1227fs	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	1287					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GCCTGCAGCGTCCCCCCTGCTG	0.599													C	46419039	-	C	46419038	7	5	158	1	0	1	1	0	0	0	0	0	565	855	30	0	41	0	AMBRA1	11	46419038	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	1214571	46419038	88587478	1609	85390											
AMBRA1	55626	broad.mit.edu	37	chr11	46563764	46563764	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctcaaaggagctggggacCtgccaagaggaactagcctc	12	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:46563764C>A	uc010rgu.1	-	7	2163	c.1803G>T	c.(1801-1803)CAG>CAT	p.Q601H	AMBRA1_uc010rgt.1_Missense_Mutation_p.Q167H|AMBRA1_uc009ylc.1_Missense_Mutation_p.Q601H|AMBRA1_uc001ncu.1_Missense_Mutation_p.Q511H|AMBRA1_uc001ncv.2_Missense_Mutation_p.Q511H|AMBRA1_uc001ncw.2_Missense_Mutation_p.Q511H|AMBRA1_uc001ncx.2_Missense_Mutation_p.Q601H	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	601	Ser-rich.				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGCTGGGGACCTGCCAAGAGG	0.582													A	46563764	C	A	46563764	3	1	158	1	0	0	0	0	1	0	0	0	565	680	24	5	2141	5	AMBRA1	11	46563764	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	144726	46563764	88442752	1610	85391											
ARHGAP1	392	broad.mit.edu	37	chr11	46717590	46717590	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcgatggaggccagcttcAgctggttcagagcctcgctg	13	12	2	1	rs142883832		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:46717590A>G	uc001ndd.2	-	2	137	c.68T>C	c.(67-69)CTG>CCG	p.L23P	ARHGAP1_uc009yle.1_Missense_Mutation_p.L23P|ARHGAP1_uc009ylf.1_Missense_Mutation_p.L23P	NM_004308	NP_004299	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	23					Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			skin(1)	1		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GGCCAGCTTCAGCTGGTTCAG	0.587													G	46717590	A	G	46717590	3	3	158	1	0	0	0	0	1	0	0	0	861	188	7	3	1299	3	ARHGAP1	11	46717590	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	153826	46717590	88288926	1611	85392											
NR1H3	10062	broad.mit.edu	37	chr11	47289880	47289880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catatgtggaagccctgcatGcctacgtctccatccaccat	7	15	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:47289880G>A	uc009ylm.2	+	9	1392	c.1171G>A	c.(1171-1173)GCC>ACC	p.A391T	MADD_uc001neq.2_5'Flank|MADD_uc001ner.1_5'Flank|MADD_uc001nev.1_5'Flank|MADD_uc001nes.1_5'Flank|MADD_uc001net.1_5'Flank|MADD_uc009yln.1_5'Flank|MADD_uc001neu.1_5'Flank|MADD_uc001nex.2_5'Flank|MADD_uc001nez.2_5'Flank|MADD_uc001new.2_5'Flank|NR1H3_uc010rhk.1_Missense_Mutation_p.A397T|NR1H3_uc001nek.2_Missense_Mutation_p.A346T|NR1H3_uc001nej.2_Missense_Mutation_p.A331T|NR1H3_uc001nel.2_Missense_Mutation_p.A410T|NR1H3_uc001nen.3_Missense_Mutation_p.A331T|NR1H3_uc001nem.2_Missense_Mutation_p.A391T|NR1H3_uc001nep.2_Missense_Mutation_p.A240T	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	391	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			ovary(2)|lung(1)	3						AGCCCTGCATGCCTACGTCTC	0.557													A	47289880	G	A	47289880	3	1	158	1	0	0	0	0	1	0	0	0	10618	1319	46	2	1201	2	NR1H3	11	47289880	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	572290	47289880	87716636	1612	85393											
MADD	8567	broad.mit.edu	37	chr11	47345868	47345868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catggagcgcgctgccgcccGacagcaaagcatcaaacccg	11	16	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:47345868G>A	uc001ner.1	+	32	4786	c.4595G>A	c.(4594-4596)CGA>CAA	p.R1532Q	MADD_uc001neq.2_Missense_Mutation_p.R1473Q|MADD_uc001nev.1_Missense_Mutation_p.R1430Q|MADD_uc001nes.1_Missense_Mutation_p.R1450Q|MADD_uc001net.1_Missense_Mutation_p.R1493Q|MADD_uc009yln.1_Missense_Mutation_p.R1426Q|MADD_uc001neu.1_Missense_Mutation_p.R1430Q|MADD_uc001nex.2_Missense_Mutation_p.R1532Q|MADD_uc001nez.2_Missense_Mutation_p.R1429Q|MADD_uc001new.2_Missense_Mutation_p.R1472Q|MADD_uc009ylo.2_Missense_Mutation_p.R446Q	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	1532					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		GCTGCCGCCCGACAGCAAAGC	0.582													A	47345868	G	A	47345868	3	1	158	1	0	0	0	0	1	0	0	0	9152	1058	37	1	4717	1	MADD	11	47345868	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	55988	47345868	87660648	1613	85394											
KBTBD4	55709	broad.mit.edu	37	chr11	47599055	47599055	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtcttggcacagtgcttgGcagccgtatagagctcagga	15	9	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:47599055G>T	uc001nfx.2	-	2	668	c.497C>A	c.(496-498)GCC>GAC	p.A166D	NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Missense_Mutation_p.A191D|KBTBD4_uc001nfz.2_Missense_Mutation_p.A182D|KBTBD4_uc001nfy.2_Missense_Mutation_p.A166D|NDUFS3_uc010rhn.1_5'Flank|NDUFS3_uc001nga.2_5'Flank	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	166	BACK.									ovary(1)|central_nervous_system(1)	2						ACAGTGCTTGGCAGCCGTATA	0.542													T	47599055	G	T	47599055	3	4	158	1	0	0	0	0	1	0	0	0	7995	1203	42	5	1071	5	KBTBD4	11	47599055	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	253187	47599055	87407461	1614	85395											
AGBL2	79841	broad.mit.edu	37	chr11	47711857	47711857	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctttcataacccaggagcCattactttctccagggtgaa	8	12	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:47711857C>A	uc001ngg.2	-	9	1502	c.1402G>T	c.(1402-1404)GGC>TGC	p.G468C	AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.G430C|AGBL2_uc001ngh.1_Missense_Mutation_p.G412C	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	468					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						ACCCAGGAGCCATTACTTTCT	0.493													A	47711857	C	A	47711857	3	1	158	1	0	0	0	0	1	0	0	0	376	594	21	5	1346	5	AGBL2	11	47711857	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	112802	47711857	87294659	1615	85396											
PTPRJ	5795	broad.mit.edu	37	chr11	48146561	48146561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgggcagggagccccaccGcccctgtgcatgatgagtcc	14	16	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:48146561G>A	uc001ngp.3	+	6	1271	c.916G>A	c.(916-918)GCC>ACC	p.A306T	PTPRJ_uc001ngo.3_Missense_Mutation_p.A306T	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	306	Extracellular (Potential).|Fibronectin type-III 3.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						GAGCCCCACCGCCCCTGTGCA	0.587													A	48146561	G	A	48146561	3	1	158	1	0	0	0	0	1	0	0	0	12804	1087	38	1	938	1	PTPRJ	11	48146561	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	434704	48146561	86859955	1616	85397											
PTPRJ	5795	broad.mit.edu	37	chr11	48149417	48149417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtcagcgataacgagtcGtcatctaactatacctacaa	6	10	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:48149417G>A	uc001ngp.3	+	7	1534	c.1179G>A	c.(1177-1179)TCG>TCA	p.S393S	PTPRJ_uc001ngo.3_Silent_p.S393S	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	393	Extracellular (Potential).|Fibronectin type-III 4.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						ATAACGAGTCGTCATCTAACT	0.512													A	48149417	G	A	48149417	2	1	158	1	0	0	0	0	0	0	0	1	12804	1132	40	1		1	PTPRJ	11	48149417	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2856	48149417	86857099	1617	85398											
OR4S2	219431	broad.mit.edu	37	chr11	55419151	55419151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtacttttatgtacatgCgccctgatacgaccttttca	6	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:55419151C>T	uc001nhs.1	+	1	772	c.772C>T	c.(772-774)CGC>TGC	p.R258C		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	258	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.0748)				TATGTACATGCGCCCTGATAC	0.463													T	55419151	C	T	55419151	3	4	158	1	0	0	0	0	1	0	0	0	11083	768	27	1	774	1	OR4S2	11	55419151	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	7269734	55419151	79587365	1618	85399											
OR5M1	390168	broad.mit.edu	37	chr11	56380328	56380328	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaaaaatgaaaagataGgacagaagaatgatgaagag	12	3	0	7			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:56380328G>T	uc001nja.1	-	1	651	c.651C>A	c.(649-651)TCC>TCA	p.S217S		NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M,	217	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						TGAAAAGATAGGACAGAAGAA	0.448													T	56380328	G	T	56380328	2	4	158	1	0	0	0	0	0	0	0	1	11172	987	35	5		5	OR5M1	11	56380328	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	961177	56380328	78626188	1619	85400											
OR9G4	283189	broad.mit.edu	37	chr11	56510933	56510933	+	Frame_Shift_Del	DEL	A	A	-													agtgtaggctacaacacaggAaaaaaacagctgagccccac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:56510932_56510932GA>G	uc010rjo.2	-	0	356	c.356_356TC>C	c.(355-357)tccfs	p.S119fs		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TACAACACAGGAAAAAAACAG	0.478													-	56510933	A	-	56510933	7	5	158	1	0	1	0	1	0	0	0	0	11251	246	9	0	631	0	OR9G4	11	56510933	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	130605	56510933	78495583	1620	85401											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57069612	57069612	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaggcccaaggtacccccAggccgaatgaccggggcccg	14	16	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:57069612A>G	uc001njr.2	-	7	5082	c.4770T>C	c.(4768-4770)CCT>CCC	p.P1590P	TNKS1BP1_uc001njp.2_Silent_p.P162P|TNKS1BP1_uc001njq.2_Silent_p.P163P|TNKS1BP1_uc001njs.2_Silent_p.P1590P	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1590	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				AGGTACCCCCAGGCCGAATGA	0.597													G	57069612	A	G	57069612	2	3	158	1	0	0	0	0	0	0	0	1	16317	175	7	3		3	TNKS1BP1	11	57069612	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	558679	57069612	77936904	1621	85402											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57076427	57076428	+	Frame_Shift_Del	DEL	CT	CT	-													agtcagtctgccccacgccaCtctctctggcctggctgtgg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:57076426_57076427ACT>A	uc001njr.3	-	4	4070_4071	c.3758_3759AGT>T	c.(3757-3759)agtfs	p.S1253fs	TNKS1BP1_uc001njs.3_Frame_Shift_Del_p.S1253fs|TNKS1BP1_uc009ymd.1_Frame_Shift_Del_p.S704fs	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1253	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCCCCACGCCACTCTCTCTGGC	0.579													-	57076428	CT	-	57076427	7	5	158	1	0	1	0	1	0	0	0	0	16317	565	20	0	1455	0	TNKS1BP1	11	57076427	Frame_Shift_Del	DEL	CT	TCGA-CD-A4MG-01A-11D-A25D-08	6815	57076427	77930089	1622	85403											
SSRP1	6749	broad.mit.edu	37	chr11	57099955	57099955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgattgggggatccagGctgatctagtaaggaagagt	15	5	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:57099955G>A	uc001njt.2	-	7	1041	c.774C>T	c.(772-774)AGC>AGT	p.S258S		NM_003146	NP_003137	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	258					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			ovary(2)	2						GGGGATCCAGGCTGATCTAGT	0.448													A	57099955	G	A	57099955	2	1	158	1	0	0	0	0	0	0	0	1	15193	1194	42	2		2	SSRP1	11	57099955	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	23528	57099955	77906561	1623	85404											
SLC43A3	29015	broad.mit.edu	37	chr11	57177481	57177481	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggatgaaggtgaggtActggagagggaggatgggga	21	2	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:57177481A>G	uc001nkg.2	-	12	1584	c.1174T>C	c.(1174-1176)TAC>CAC	p.Y392H	PRG2_uc001nke.2_Intron|SLC43A3_uc001nkh.2_Missense_Mutation_p.Y392H|SLC43A3_uc010rjr.1_Missense_Mutation_p.Y405H|SLC43A3_uc009yme.2_Missense_Mutation_p.Y392H|SLC43A3_uc001nki.2_Missense_Mutation_p.Y392H	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	392					transmembrane transport	integral to membrane				central_nervous_system(1)	1						AAGGTGAGGTACTGGAGAGGG	0.647													G	57177481	A	G	57177481	3	3	158	1	0	0	0	0	1	0	0	0	14634	391	14	3	313	3	SLC43A3	11	57177481	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	77526	57177481	77829035	1624	85405											
SERPING1	710	broad.mit.edu	37	chr11	57367766	57367766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccctgaagctctaccacGccttctcagcaatgaagaag	7	14	3	3	rs139035354	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:57367766G>A	uc001nkp.1	+	3	657	c.466G>A	c.(466-468)GCC>ACC	p.A156T	SERPING1_uc001nkq.1_Missense_Mutation_p.A156T|SERPING1_uc010rju.1_Missense_Mutation_p.A104T|SERPING1_uc010rjv.1_Missense_Mutation_p.A161T|SERPING1_uc001nkr.1_Missense_Mutation_p.A156T|SERPING1_uc009ymi.1_Missense_Mutation_p.A156T|SERPING1_uc009ymj.1_Missense_Mutation_p.A156T|SERPING1_uc001nks.1_Intron	NM_000062	NP_000053	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	156					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)	1						GCTCTACCACGCCTTCTCAGC	0.542									Hereditary_Angioedema				A	57367766	G	A	57367766	3	1	158	1	0	0	0	0	1	0	0	0	14116	1087	38	1	472	1	SERPING1	11	57367766	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	190285	57367766	77638750	1625	85406											
ZDHHC5	25921	broad.mit.edu	37	chr11	57464258	57464258	+	Frame_Shift_Del	DEL	C	C	-													agcttattggccaaggacagCcccccgacacctaccatgta							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:57464257_57464257GC>G	uc001nkx.1	+	9	2290	c.1034_1034GC>G	c.(1033-1035)agcfs	p.S345fs	ZDHHC5_uc001nky.1_Frame_Shift_Del_p.S292fs|ZDHHC5_uc001nkz.1_Frame_Shift_Del_p.S159fs	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	Homo sapiens zinc finger, DHHC-type containing 5 (ZDHHC5), mRNA.	345						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GCCAAGGACAGCCCCCCGACA	0.512													-	57464258	C	-	57464258	7	5	158	1	0	1	0	1	0	0	0	0	17615	738	26	0	1069	0	ZDHHC5	11	57464258	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	96492	57464258	77542258	1626	85407											
DTX4	23220	broad.mit.edu	37	chr11	58972170	58972170	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttctgaagctgctgctcgtgGcctgggatcgccgcctcatt	12	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:58972170G>C	uc001nns.2	+	9	1905	c.1648G>C	c.(1648-1650)GCC>CCC	p.A550P	DTX4_uc001nnr.2_Missense_Mutation_p.A444P	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	550					Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)				GCTGCTCGTGGCCTGGGATCG	0.522													C	58972170	G	C	58972170	3	2	158	1	0	0	0	0	1	0	0	0	4797	1203	42	5	1682	5	DTX4	11	58972170	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1507912	58972170	76034346	1627	85408											
MPEG1	219972	broad.mit.edu	37	chr11	58978606	58978606	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaagagcccggatttgAcgcaataggacacttggcat	12	9	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:58978606A>G	uc001nnu.3	-	1	1889	c.1733T>C	c.(1732-1734)GTC>GCC	p.V578A		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	578	Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)				CCCGGATTTGACGCAATAGGA	0.592													G	58978606	A	G	58978606	3	3	158	1	0	0	0	0	1	0	0	0	9723	275	10	3	421	3	MPEG1	11	58978606	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	6436	58978606	76027910	1628	85409											
OR4D9	390199	broad.mit.edu	37	chr11	59283285	59283285	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaagttggccatgaggaaActgaagagacggctaggaca	14	6	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:59283285A>G	uc010rkv.1	+	1	900	c.900A>G	c.(898-900)AAA>AAG	p.K300K		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CCATGAGGAAACTGAAGAGAC	0.383													G	59283285	A	G	59283285	2	3	158	1	0	0	0	0	0	0	0	1	11059	40	2	3		3	OR4D9	11	59283285	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	304679	59283285	75723231	1629	85410											
TCN1	6947	broad.mit.edu	37	chr11	59622168	59622168	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctttctccatcacacTgaggaagacagaaccattta	8	11	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:59622168T>C	uc001noj.2	-	7	1176	c.1078A>G	c.(1078-1080)AGT>GGT	p.S360G		NM_001062	NP_001053	P20061	TCO1_HUMAN	transcobalamin I precursor	360					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			ovary(2)	2		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCCATCACACTGAGGAAGACA	0.383													C	59622168	T	C	59622168	3	2	158	1	0	0	0	0	1	0	0	0	15703	1580	55	3	235	3	TCN1	11	59622168	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	338883	59622168	75384348	1630	85411											
MS4A14	84689	broad.mit.edu	37	chr11	60167907	60167907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggatacctcacagtaaccGataagaaatcaaaacttctg	6	10	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:60167907G>A	uc001npj.2	+	3	863	c.298G>A	c.(298-300)GAT>AAT	p.D100N	MS4A14_uc001npi.2_Intron|MS4A14_uc001npn.2_Intron|MS4A14_uc001npk.2_Intron|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_Intron	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	100						integral to membrane	receptor activity			breast(1)	1						CACAGTAACCGATAAGAAATC	0.308													A	60167907	G	A	60167907	3	1	158	1	0	0	0	0	1	0	0	0	9858	1058	37	1	308	1	MS4A14	11	60167907	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	545739	60167907	74838609	1631	85412											
VWCE	220001	broad.mit.edu	37	chr11	61040743	61040743	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgccactcttctcgggggcAggccagctcagggcagggca	15	15	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:61040743A>G	uc001nra.2	-	13	1906	c.1627T>C	c.(1627-1629)TGC>CGC	p.C543R	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	543	VWFC 3.					extracellular region	calcium ion binding			ovary(1)	1						TCTCGGGGGCAGGCCAGCTCA	0.667													G	61040743	A	G	61040743	3	3	158	1	0	0	0	0	1	0	0	0	17242	188	7	3	1272	3	VWCE	11	61040743	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	872836	61040743	73965773	1632	85413											
DDB1	1642	broad.mit.edu	37	chr11	61089821	61089821	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacatatcgacaatgggtcCtaagttggtaaaggtttcca	10	8	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:61089821C>A	uc001nrc.3	-	9	1295	c.1069G>T	c.(1069-1071)GGA>TGA	p.G357*	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Nonsense_Mutation_p.G357*|DDB1_uc010rlg.1_RNA|DDB1_uc001nrd.2_Nonsense_Mutation_p.G357*|DDB1_uc009ynl.1_Nonsense_Mutation_p.G244*	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	357	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						ACAATGGGTCCTAAGTTGGTA	0.468								NER					A	61089821	C	A	61089821	4	1	158	1	0	0	0	0	0	1	0	0	4323	690	24	5	2429	5	DDB1	11	61089821	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	49078	61089821	73916695	1633	85414											
DAK	26007	broad.mit.edu	37	chr11	61113929	61113929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagaccccggggcggtggCagctgctgccatcctccggg	16	16	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:61113929C>T	uc001nre.2	+	18	1939	c.1682C>T	c.(1681-1683)GCA>GTA	p.A561V	DAK_uc009ynm.1_3'UTR	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	561	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0						GGGGCGGTGGCAGCTGCTGCC	0.627													T	61113929	C	T	61113929	3	4	158	1	0	0	0	0	1	0	0	0	4228	710	25	2	1748	2	DAK	11	61113929	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	24108	61113929	73892587	1634	85415											
DAGLA	747	broad.mit.edu	37	chr11	61504705	61504705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgggccactccctgggcGcgggcactgctgccatcctc	14	16	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:61504705G>A	uc001nsa.2	+	14	1534	c.1423G>A	c.(1423-1425)GCG>ACG	p.A475T		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	475	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		CTCCCTGGGCGCGGGCACTGC	0.657													A	61504705	G	A	61504705	3	1	158	1	0	0	0	0	1	0	0	0	4226	1087	38	1	1473	1	DAGLA	11	61504705	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	390776	61504705	73501811	1635	85416											
INCENP	3619	broad.mit.edu	37	chr11	61916008	61916008	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcagctgcagagggaactGgaggagaagaagaagaaggt	18	4	0	5			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:61916008G>T	uc001nsw.1	+	16	2467	c.2265G>T	c.(2263-2265)CTG>CTT	p.L755L	INCENP_uc009ynw.1_Silent_p.L759L|INCENP_uc001nsx.1_Silent_p.L751L|INCENP_uc001nsy.1_Silent_p.L169L	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	755	Potential.				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1						AGAGGGAACTGGAGGAGAAGA	0.652													T	61916008	G	T	61916008	2	4	158	1	0	0	0	0	0	0	0	1	7733	1335	47	5		5	INCENP	11	61916008	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	411303	61916008	73090508	1636	85417											
EML3	256364	broad.mit.edu	37	chr11	62376074	62376074	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccagtccaatctcctgCagtttcaacagcgtctctga	7	16	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:62376074C>T	uc001ntu.1	-	9	1358	c.1050G>A	c.(1048-1050)CTG>CTA	p.L350L	EML3_uc001ntr.1_Silent_p.L322L|EML3_uc001nts.1_Silent_p.L322L|EML3_uc001ntt.1_Silent_p.L234L|EML3_uc010rly.1_Silent_p.L350L|EML3_uc009yny.1_Silent_p.L133L	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	350	WD 1.					cytoplasm|microtubule	protein binding			ovary(1)	1						CAATCTCCTGCAGTTTCAACA	0.577													T	62376074	C	T	62376074	2	4	158	1	0	0	0	0	0	0	0	1	5098	697	25	2		2	EML3	11	62376074	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	460066	62376074	72630442	1637	85418											
GANAB	23193	broad.mit.edu	37	chr11	62396391	62396391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgcccagtgtccaagtggGcatgtgcccggaagaatggc	15	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:62396391G>A	uc001nub.2	-	17	2063	c.2030C>T	c.(2029-2031)GCC>GTC	p.A677V	GANAB_uc001ntz.2_5'Flank|GANAB_uc001nua.2_Missense_Mutation_p.A699V|GANAB_uc001nuc.2_Missense_Mutation_p.A580V|GANAB_uc010rma.1_Missense_Mutation_p.A585V|GANAB_uc010rmb.1_Missense_Mutation_p.A563V	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	677					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						GTCCAAGTGGGCATGTGCCCG	0.552													A	62396391	G	A	62396391	3	1	158	1	0	0	0	0	1	0	0	0	6233	1203	42	2	836	2	GANAB	11	62396391	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	20317	62396391	72610125	1638	85419											
GANAB	23193	broad.mit.edu	37	chr11	62400140	62400140	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgccaggagcacaggcacaGacccatacaaggccattggg	13	12	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:62400140G>A	uc001nub.2	-	9	926	c.893C>T	c.(892-894)TCT>TTT	p.S298F	GANAB_uc001nua.2_Missense_Mutation_p.S320F|GANAB_uc001nuc.2_Missense_Mutation_p.S201F|GANAB_uc010rma.1_Missense_Mutation_p.S206F|GANAB_uc010rmb.1_Missense_Mutation_p.S184F	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	298					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						CACAGGCACAGACCCATACAA	0.537													A	62400140	G	A	62400140	3	1	158	1	0	0	0	0	1	0	0	0	6233	942	33	4	2005	4	GANAB	11	62400140	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3749	62400140	72606376	1639	85420											
MARK2	2011	broad.mit.edu	37	chr11	63670157	63670157	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaataagcggcctgaggaggAccgggagtcagggcggaaag	18	7	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:63670157A>G	uc001nxw.2	+	13	1898	c.1319A>G	c.(1318-1320)GAC>GGC	p.D440G	MARK2_uc001nxx.2_Missense_Mutation_p.D440G|MARK2_uc001nxy.2_Missense_Mutation_p.D439G|MARK2_uc001nxv.3_Missense_Mutation_p.D439G|MARK2_uc001nxz.3_Missense_Mutation_p.D406G|MARK2_uc009yoy.2_Missense_Mutation_p.D406G	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	440					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						CCTGAGGAGGACCGGGAGTCA	0.607													G	63670157	A	G	63670157	3	3	158	1	0	0	0	0	1	0	0	0	9313	275	10	3	1369	3	MARK2	11	63670157	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1270017	63670157	71336359	1640	85421											
SLC22A12	116085	broad.mit.edu	37	chr11	64368251	64368251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggcagcccgtggaggagCcatcctggggcctctggtcc	16	13	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64368251C>T	uc001oam.1	+	9	2186	c.1439C>T	c.(1438-1440)GCC>GTC	p.A480V	SLC22A12_uc001oal.1_Missense_Mutation_p.A259V|SLC22A12_uc009yps.1_Missense_Mutation_p.A446V|SLC22A12_uc001oan.1_Missense_Mutation_p.A372V|SLC22A12_uc009ypt.2_Missense_Mutation_p.A298V	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	480	Helical; (Potential).				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1						CGTGGAGGAGCCATCCTGGGG	0.657													T	64368251	C	T	64368251	3	4	158	1	0	0	0	0	1	0	0	0	14443	739	26	2	1473	2	SLC22A12	11	64368251	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	698094	64368251	70638265	1641	85422											
NRXN2	9379	broad.mit.edu	37	chr11	64419024	64419024	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccgatgaagttggagggcAccacggagataaaccgccgc	14	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64419024A>G	uc001oar.2	-	15	3060	c.2621T>C	c.(2620-2622)GTG>GCG	p.V874A	NRXN2_uc001oas.2_Missense_Mutation_p.V834A|NRXN2_uc001oaq.2_Missense_Mutation_p.V541A	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						GTTGGAGGGCACCACGGAGAT	0.567											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	64419024	A	G	64419024	3	3	158	1	0	0	0	0	1	0	0	0	10666	159	6	3	2826	3	NRXN2	11	64419024	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	50773	64419024	70587492	1642	85423											
NRXN2	9379	broad.mit.edu	37	chr11	64428422	64428422	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcggctacgcccatctAtgaagaggtcccgcacacag	11	14	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64428422A>G	uc001oar.2	-	11	2427	c.1988T>C	c.(1987-1989)ATA>ACA	p.I663T	NRXN2_uc001oas.2_Missense_Mutation_p.I632T|NRXN2_uc001oaq.2_Missense_Mutation_p.I330T	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:Variant_position_missing_in_P58401_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						ACGCCCATCTATGAAGAGGTC	0.687													G	64428422	A	G	64428422	3	3	158	1	0	0	0	0	1	0	0	0	10666	449	16	3	3475	3	NRXN2	11	64428422	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	9398	64428422	70578094	1643	85424											
NRXN2	9379	broad.mit.edu	37	chr11	64480999	64480999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgcgcgtggcgttggtgCgcaggctgaagctgagctcg	19	11	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64480999C>T	uc001oar.2	-	3	612	c.173G>A	c.(172-174)CGC>CAC	p.R58H	NRXN2_uc001oas.2_Missense_Mutation_p.R58H	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						GGCGTTGGTGCGCAGGCTGAA	0.761													T	64480999	C	T	64480999	3	4	158	1	0	0	0	0	1	0	0	0	10666	768	27	1	5322	1	NRXN2	11	64480999	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	52577	64480999	70525517	1644	85425											
PYGM	5837	broad.mit.edu	37	chr11	64518009	64518009	+	Silent	SNP	A	A	G													ttgccggtgcctgaggcttcAgtgcccgcagtggagatctg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64518009A>G	uc001oax.3	-	17	2833	c.2016T>C	c.(2014-2016)ACT>ACC	p.T672T	PYGM_uc001oay.3_Silent_p.T584T	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	672					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	CTGAGGCTTCAGTGCCCGCAG	0.607													G	64518009	A	G	64518009	2	3	158	1	0	0	0	0	0	0	0	1	12862	175	7	3		3	PYGM	11	64518009	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	37010	64518009	70488507	1645	85426	425	2									
PYGM	5837	broad.mit.edu	37	chr11	64518013	64518013	+	Missense_Mutation	SNP	C	C	T													cggtgcctgaggcttcagtgCccgcagtggagatctgctca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64518013C>T	uc001oax.3	-	17	2829	c.2012G>A	c.(2011-2013)GGC>GAC	p.G671D	PYGM_uc001oay.3_Missense_Mutation_p.G583D	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	671					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	GGCTTCAGTGCCCGCAGTGGA	0.607													T	64518013	C	T	64518013	3	4	158	1	0	0	0	0	1	0	0	0	12862	739	26	2	532	2	PYGM	11	64518013	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	4	64518013	70488503	1646	85427	425	2									
SF1	7536	broad.mit.edu	37	chr11	64536983	64536983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctcctggcaacatctggCcatctttgcgcccaaccttc	6	17	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64536983C>T	uc001obb.1	-	6	955	c.578G>A	c.(577-579)GGC>GAC	p.G193D	SF1_uc010rnm.1_5'Flank|SF1_uc010rnn.1_Missense_Mutation_p.G167D|SF1_uc001oaz.1_Missense_Mutation_p.G318D|SF1_uc001oba.1_Missense_Mutation_p.G193D|SF1_uc001obc.1_Missense_Mutation_p.G193D|SF1_uc001obd.1_Missense_Mutation_p.G193D|SF1_uc001obe.1_Missense_Mutation_p.G78D|SF1_uc010rno.1_Missense_Mutation_p.G78D	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	193	KH.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3						CAACATCTGGCCATCTTTGCG	0.517													T	64536983	C	T	64536983	3	4	158	1	0	0	0	0	1	0	0	0	14145	739	26	2	1511	2	SF1	11	64536983	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	18970	64536983	70469533	1647	85428											
MAP4K2	5871	broad.mit.edu	37	chr11	64567831	64567831	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttaggattcttggtcagGgccagtttgagaaagtggtg	14	5	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64567831G>T	uc001obh.2	-	11	851	c.759C>A	c.(757-759)GCC>GCA	p.A253A	MAP4K2_uc001obi.2_Silent_p.A253A	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	253	Protein kinase.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2						TCTTGGTCAGGGCCAGTTTGA	0.607													T	64567831	G	T	64567831	2	4	158	1	0	0	0	0	0	0	0	1	9260	1219	43	5		5	MAP4K2	11	64567831	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	30848	64567831	70438685	1648	85429											
ATG2A	23130	broad.mit.edu	37	chr11	64669448	64669448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcaccgggatgcccaggcCgggagcatcaaggatgcaga	15	12	1	1	rs143404952		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64669448C>T	uc001obx.2	-	29	4220	c.4105G>A	c.(4105-4107)GGC>AGC	p.G1369S	ATG2A_uc001obw.2_Missense_Mutation_p.G134S	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1369							protein binding			ovary(1)|central_nervous_system(1)	2						ATGCCCAGGCCGGGAGCATCA	0.607													T	64669448	C	T	64669448	3	4	158	1	0	0	0	0	1	0	0	0	1093	652	23	1	1763	1	ATG2A	11	64669448	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	101617	64669448	70337068	1649	85430											
PPP2R5B	5526	broad.mit.edu	37	chr11	64697972	64697972	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcatcaatggctttgcgCtgcccctgaagacggagcac	11	13	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64697972C>T	uc001oby.2	+	8	1387	c.802C>T	c.(802-804)CTG>TTG	p.L268L	PPP2R5B_uc001obz.2_Silent_p.L268L	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	268					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2						TGGCTTTGCGCTGCCCCTGAA	0.602													T	64697972	C	T	64697972	2	4	158	1	0	0	0	0	0	0	0	1	12393	796	28	2		2	PPP2R5B	11	64697972	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	28524	64697972	70308544	1650	85431											
C11orf85	283129	broad.mit.edu	37	chr11	64717891	64717891	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaagtttcccaagaccacGcggacagaatcctgaaaaac	7	13	0	3	rs112044647	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64717891G>A	uc001ocb.1	-	4	233	c.159C>T	c.(157-159)CGC>CGT	p.R53R	C11orf85_uc001occ.1_RNA|C11orf85_uc001ocd.1_Intron	NM_001037225	NP_001032302	Q3KP22	CK085_HUMAN	hypothetical protein LOC283129	53											0						CCAAGACCACGCGGACAGAAT	0.284													A	64717891	G	A	64717891	2	1	158	1	0	0	0	0	0	0	0	1	1668	1074	38	1		1	C11orf85	11	64717891	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	19919	64717891	70288625	1651	85432											
SNX15	29907	broad.mit.edu	37	chr11	64806048	64806048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctttctaactgcagaaggCgcagcccccagccccaccca	7	20	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64806048C>T	uc001oci.3	+	10	1322	c.669C>T	c.(667-669)GGC>GGT	p.G223G	SNX15_uc009ypy.2_Silent_p.G223G|SNX15_uc001ocj.2_Silent_p.G223G|SNX15_uc001ock.2_Intron|SAC3D1_uc010rnv.1_5'Flank|SAC3D1_uc001ocm.2_5'Flank	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	sorting nexin 15 isoform A	223					cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			ovary(1)	1						CTGCAGAAGGCGCAGCCCCCA	0.622													T	64806048	C	T	64806048	2	4	158	1	0	0	0	0	0	0	0	1	14886	755	27	1		1	SNX15	11	64806048	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	88157	64806048	70200468	1652	85433											
SAC3D1	29901	broad.mit.edu	37	chr11	64812122	64812122	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttagtggagagcaaacttCgaggacgtaccctggaggag	15	7	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64812122C>T	uc001ocm.2	+	2	1389	c.1000C>T	c.(1000-1002)CGA>TGA	p.R334*	SAC3D1_uc010rnv.1_Nonsense_Mutation_p.R321*	NM_013299	NP_037431			SAC3 domain containing 1												0						GAGCAAACTTCGAGGACGTAC	0.612													T	64812122	C	T	64812122	4	4	158	1	0	0	0	0	0	1	0	0	13802	876	31	1	1006	1	SAC3D1	11	64812122	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	6074	64812122	70194394	1653	85434											
MAP3K11	4296	broad.mit.edu	37	chr11	65366996	65366996	+	Frame_Shift_Del	DEL	G	G	-													agaagcagatgagcggggaaGggggcggctcggtcgggcag					rs144595056	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:65366996delG	uc001oew.2	-	9	2568	c.2075delC	c.(2074-2076)CCTfs	p.P692fs	MAP3K11_uc001oev.2_Frame_Shift_Del_p.P108fs|MAP3K11_uc010rol.1_Frame_Shift_Del_p.P435fs|MAP3K11_uc001oex.1_Frame_Shift_Del_p.P199fs	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	692	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						GAGCGGGGAAGGGGGCGGCTC	0.741													-	65366996	G	-	65366996	7	5	158	1	0	1	0	1	0	0	0	0	9245	1000	35	0	476	0	MAP3K11	11	65366996	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	554874	65366996	69639520	1654	85435											
MAP3K11	4296	broad.mit.edu	37	chr11	65374866	65374866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcagcagcgtcagctcgCgctcgaacacctctagctcc	10	17	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:65374866C>T	uc001oew.2	-	5	1857	c.1364G>A	c.(1363-1365)CGC>CAC	p.R455H	MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Missense_Mutation_p.R198H|MAP3K11_uc001oex.1_5'UTR	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	455	Leucine-zipper 2.|Arg-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						CGTCAGCTCGCGCTCGAACAC	0.741													T	65374866	C	T	65374866	3	4	158	1	0	0	0	0	1	0	0	0	9245	768	27	1	1203	1	MAP3K11	11	65374866	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	7870	65374866	69631650	1655	85436											
EFEMP2	30008	broad.mit.edu	37	chr11	65638739	65638739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtaggtcgttgatgacggCagcggagcggggcaggcaca	19	8	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:65638739C>T	uc001ofy.3	-	4	450	c.256G>A	c.(256-258)GCC>ACC	p.A86T	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.A86T	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	86					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		TTGATGACGGCAGCGGAGCGG	0.632													T	65638739	C	T	65638739	3	4	158	1	0	0	0	0	1	0	0	0	4942	710	25	2	1107	2	EFEMP2	11	65638739	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	263873	65638739	69367777	1656	85437											
CTSW	1521	broad.mit.edu	37	chr11	65651024	65651024	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaatacctgtggcatcaccAagttcccgctcactgcccgt	8	16	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:65651024A>G	uc001ogc.1	+	10	1108	c.1066A>G	c.(1066-1068)AAG>GAG	p.K356E	CTSW_uc001ogb.1_3'UTR	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	356					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)		TGGCATCACCAAGTTCCCGCT	0.612													G	65651024	A	G	65651024	3	3	158	1	0	0	0	0	1	0	0	0	4042	131	5	3	1104	3	CTSW	11	65651024	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	12285	65651024	69355492	1657	85438											
CATSPER1	117144	broad.mit.edu	37	chr11	65787662	65787662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcttctcttggatccGggcggccctctgggaagaag	14	12	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:65787662G>A	uc001ogt.2	-	9	2212	c.2074C>T	c.(2074-2076)CGG>TGG	p.R692W		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	692	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2						TCTTGGATCCGGGCGGCCCTC	0.667													A	65787662	G	A	65787662	3	1	158	1	0	0	0	0	1	0	0	0	2687	1115	39	1	284	1	CATSPER1	11	65787662	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	136638	65787662	69218854	1658	85439											
CATSPER1	117144	broad.mit.edu	37	chr11	65793450	65793450	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcactctgctgatggaacCcaccgtattgggacccatca	9	13	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:65793450C>A	uc001ogt.2	-	1	539	c.401G>T	c.(400-402)GGG>GTG	p.G134V		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	134	His-rich.|Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2						CTGATGGAACCCACCGTATTG	0.562													A	65793450	C	A	65793450	3	1	158	1	0	0	0	0	1	0	0	0	2687	623	22	5	1989	5	CATSPER1	11	65793450	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	5788	65793450	69213066	1659	85440											
SPTBN2	6712	broad.mit.edu	37	chr11	66468267	66468267	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcatgttgggccaggagggcCtctgcctcaggcagggtggc	18	11	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:66468267C>A	uc001ojd.2	-	16	3375	c.3303G>T	c.(3301-3303)GAG>GAT	p.E1101D		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1101	Spectrin 8.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CCAGGAGGGCCTCTGCCTCAG	0.682													A	66468267	C	A	66468267	3	1	158	1	0	0	0	0	1	0	0	0	15119	680	24	5	3957	5	SPTBN2	11	66468267	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	674817	66468267	68538249	1660	85441											
PC	5091	broad.mit.edu	37	chr11	66616719	66616719	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accttcatggcctgggtgtcCttgaccaagatggaccgcag	12	12	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:66616719C>A	uc001ojn.1	-	20	3319	c.3270G>T	c.(3268-3270)AAG>AAT	p.K1090N	PC_uc001ojo.1_Missense_Mutation_p.K1090N|PC_uc001ojp.1_Missense_Mutation_p.K1090N|PC_uc001ojm.1_Missense_Mutation_p.K79N	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	1090					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CCTGGGTGTCCTTGACCAAGA	0.637													A	66616719	C	A	66616719	3	1	158	1	0	0	0	0	1	0	0	0	11497	680	24	5	274	5	PC	11	66616719	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	148452	66616719	68389797	1661	85442											
SYT12	91683	broad.mit.edu	37	chr11	66813344	66813344	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcggtgccagccattgtgcTccaggtgaggggggctgggg	19	10	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:66813344T>A	uc009yrl.2	+	7	1318	c.1088T>A	c.(1087-1089)CTC>CAC	p.L363H	SYT12_uc001oju.2_Missense_Mutation_p.L363H	NM_177963	NP_808878	Q8IV01	SYT12_HUMAN	synaptotagmin XII	363	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane				ovary(1)	1						GCCATTGTGCTCCAGGTGAGG	0.622													A	66813344	T	A	66813344	3	1	158	1	0	0	0	0	1	0	0	0	15465	1551	54	5	1110	5	SYT12	11	66813344	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	196625	66813344	68193172	1662	85443											
TBC1D10C	374403	broad.mit.edu	37	chr11	67177159	67177159	+	Frame_Shift_Del	DEL	C	C	-													ctcctgactcgggcccggggCccccccatcgaggggccccc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:67177159delC	uc001ola.2	+	10	1304	c.1275delC	c.(1273-1275)GGCfs	p.G425fs	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_3'UTR|TBC1D10C_uc001olb.2_RNA	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	425	Interaction with calcineurin.					intracellular	Rab GTPase activator activity				0			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGGCCCGGGGCCCCCCCATCG	0.682													-	67177159	C	-	67177159	7	5	158	1	0	1	0	1	0	0	0	0	15597	726	26	0	1309	0	TBC1D10C	11	67177159	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	363815	67177159	67829357	1663	85444											
TMEM134	80194	broad.mit.edu	37	chr11	67234859	67234859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaaagggtgttgggtccaGctgggtggcaggagagcagg	19	6	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:67234859G>A	uc001olq.1	-	4	398	c.330C>T	c.(328-330)AGC>AGT	p.S110S	TMEM134_uc001olp.1_Silent_p.S101S|TMEM134_uc001olr.1_Silent_p.S110S|TMEM134_uc001ols.1_RNA|TMEM134_uc001olt.1_RNA|TMEM134_uc010rpt.1_Silent_p.S101S|TMEM134_uc009yrx.2_Silent_p.S110S|TMEM134_uc010rpu.1_Missense_Mutation_p.A105V|TMEM134_uc001olu.3_Missense_Mutation_p.A114V	NM_025124	NP_079400	Q9H6X4	TM134_HUMAN	transmembrane protein 134 isoform a	110	Cytoplasmic (Potential).					integral to membrane					0						GTTGGGTCCAGCTGGGTGGCA	0.667													A	67234859	G	A	67234859	2	1	158	1	0	0	0	0	0	0	0	1	16047	985	34	2		2	TMEM134	11	67234859	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	57700	67234859	67771657	1664	85445											
PITPNM1	9600	broad.mit.edu	37	chr11	67259513	67259513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtgggcctcactcctcGctgtccagcttcaggctgat	12	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:67259513G>A	uc001olx.2	-	23	3915	c.3726C>T	c.(3724-3726)AGC>AGT	p.S1242S	PITPNM1_uc001olw.2_Silent_p.S524S|PITPNM1_uc001oly.2_Silent_p.S1242S|PITPNM1_uc001olz.2_Silent_p.S1241S	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	1242					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						CTCACTCCTCGCTGTCCAGCT	0.672													A	67259513	G	A	67259513	2	1	158	1	0	0	0	0	0	0	0	1	11950	1078	38	1		1	PITPNM1	11	67259513	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	24654	67259513	67747003	1665	85446											
PITPNM1	9600	broad.mit.edu	37	chr11	67269502	67269502	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtgataaagccgggggtcCtcttctgctttgtactcgcc	12	11	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:67269502C>A	uc001olx.2	-	4	660	c.471G>T	c.(469-471)GAG>GAT	p.E157D	PITPNM1_uc001oly.2_Missense_Mutation_p.E157D|PITPNM1_uc001olz.2_Missense_Mutation_p.E157D	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	157					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	p.E157E(1)		lung(2)|central_nervous_system(1)	3						GCCGGGGGTCCTCTTCTGCTT	0.622													A	67269502	C	A	67269502	3	1	158	1	0	0	0	0	1	0	0	0	11950	680	24	5	3343	5	PITPNM1	11	67269502	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	9989	67269502	67737014	1666	85447											
NDUFV1	4723	broad.mit.edu	37	chr11	67379644	67379644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgaggggggatgcccggCcggccgagatcgactccctg	17	13	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:67379644C>T	uc001omj.2	+	9	1369	c.1216C>T	c.(1216-1218)CCG>TCG	p.P406S	NDUFV1_uc010rpv.1_Missense_Mutation_p.P305S|NDUFV1_uc001oml.2_Missense_Mutation_p.P399S|NDUFV1_uc001omk.3_Missense_Mutation_p.P397S|NDUFV1_uc010rpw.1_Missense_Mutation_p.P115S	NM_007103	NP_009034	P49821	NDUV1_HUMAN	NADH dehydrogenase ubiquinone flavoprotein 1	406					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			skin(1)	1					NADH(DB00157)	GGATGCCCGGCCGGCCGAGAT	0.612													T	67379644	C	T	67379644	3	4	158	1	0	0	0	0	1	0	0	0	10299	739	26	2	1250	2	NDUFV1	11	67379644	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	110142	67379644	67626872	1667	85448											
NDUFS8	4728	broad.mit.edu	37	chr11	67799757	67799757	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccttctttttgcaggaccTcctggtggccggagcctcca	11	15	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:67799757T>C	uc001onc.2	+	3	170	c.63T>C	c.(61-63)CCT>CCC	p.P21P	NDUFS8_uc010rpz.1_Silent_p.P21P|NDUFS8_uc009ysb.1_Intron|NDUFS8_uc009ysc.1_Silent_p.P21P	NM_002496	NP_002487	O00217	NDUS8_HUMAN	NADH dehydrogenase ubiquinone Fe-S 8 precursor	21					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			skin(1)	1					NADH(DB00157)	TTGCAGGACCTCCTGGTGGCC	0.602													C	67799757	T	C	67799757	2	2	158	1	0	0	0	0	0	0	0	1	10298	1538	54	3		3	NDUFS8	11	67799757	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	420113	67799757	67206759	1668	85449											
LRP5	4041	broad.mit.edu	37	chr11	68154036	68154036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaccccgatggcatcgcggTcgactgggtggcccgaaacc	14	15	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:68154036T>C	uc001ont.2	+	6	1343	c.1268T>C	c.(1267-1269)GTC>GCC	p.V423A	LRP5_uc009ysg.2_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	423	LDL-receptor class B 6.|Beta-propeller 2.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						GGCATCGCGGTCGACTGGGTG	0.667													C	68154036	T	C	68154036	3	2	158	1	0	0	0	0	1	0	0	0	8960	1667	58	3	1290	3	LRP5	11	68154036	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	354279	68154036	66852480	1669	85450											
IGHMBP2	3508	broad.mit.edu	37	chr11	68703985	68703985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggaccggaagccagcgGcaggagggaggccaggaggc	19	11	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:68703985G>A	uc001ook.1	+	13	2139	c.2037G>A	c.(2035-2037)CGG>CGA	p.R679R	IGHMBP2_uc001ool.1_Silent_p.R303R|IGHMBP2_uc001oom.1_Silent_p.R257R	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	679	SS DNA-binding (By similarity).				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GAAGCCAGCGGCAGGAGGGAG	0.637													A	68703985	G	A	68703985	2	1	158	1	0	0	0	0	0	0	0	1	7591	1190	42	2		2	IGHMBP2	11	68703985	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	549949	68703985	66302531	1670	85451											
MYEOV	26579	broad.mit.edu	37	chr11	69063724	69063724	+	Frame_Shift_Del	DEL	G	G	-													gttgtgactgttgaggccctGggggggtggcgcatgggagt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:69063723_69063723TG>T	uc001oov.3	+	2	1256	c.806_806TG>T	c.(805-807)ctgfs	p.L269fs	MYEOV_uc001oox.3_Intron|MYEOV_uc009ysl.3_Frame_Shift_Del_p.L269fs|MYEOV_uc001oow.3_Frame_Shift_Del_p.L211fs	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	Homo sapiens myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas) (MYEOV), mRNA.	269										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GTTGAGGCCCTGGGGGGGTGG	0.677													-	69063724	G	-	69063724	7	5	158	1	0	1	0	1	0	0	0	0	10025	1335	47	0	813	0	MYEOV	11	69063724	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	359739	69063724	65942792	1671	85452											
SHANK2	22941	broad.mit.edu	37	chr11	70319223	70319223	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagattggctgttgcagtatCgagggggatggcgacctact	16	7	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:70319223C>T	uc001oqc.2	-	22	5379	c.5301G>A	c.(5299-5301)TCG>TCA	p.S1767S	SHANK2_uc010rqn.1_Silent_p.S1179S|SHANK2_uc001opz.2_Silent_p.S1172S|uc009ysn.1_Silent_p.I41I|SHANK2_uc001opy.2_Silent_p.S103S	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1388					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTTGCAGTATCGAGGGGGATG	0.522													T	70319223	C	T	70319223	2	4	158	1	0	0	0	0	0	0	0	1	14265	871	31	1		1	SHANK2	11	70319223	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1255499	70319223	64687293	1672	85453											
NADSYN1	55191	broad.mit.edu	37	chr11	71193946	71193947	+	Frame_Shift_Ins	INS	-	-	C													gtgaaccagatcagctacacINScccccaggatccccgagacc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:71193945_71193946A>AC	uc001oqn.3	+	13	1327_1328	c.1201_1202A>AC	c.(1201-1203)accfs	p.T401fs	NADSYN1_uc001oqo.3_Frame_Shift_Ins_p.T141fs|NADSYN1_uc001oqp.3_Frame_Shift_Ins_p.T30fs	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.	401	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ synthase (glutamine-hydrolyzing) activity|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|protein binding	p.T401A(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GATCAGCTACACCCCCCAGGAT	0.579													C	71193947	-	C	71193946	7	5	158	1	0	1	1	0	0	0	0	0	10138	507	18	0	1256	0	NADSYN1	11	71193946	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	874723	71193946	63812570	1673	85454											
KRTAP5-11	440051	broad.mit.edu	37	chr11	71293852	71293852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcccccacagccagagCcacagcctccagaacagcca	7	20	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:71293852C>T	uc001oqu.2	-	1	70	c.32G>A	c.(31-33)GGC>GAC	p.G11D		NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	11						keratin filament					0						ACAGCCAGAGCCACAGCCTCC	0.647													T	71293852	C	T	71293852	3	4	158	1	0	0	0	0	1	0	0	0	8560	739	26	2	442	2	KRTAP5-11	11	71293852	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	99906	71293852	63712664	1674	85455											
NUMA1	4926	broad.mit.edu	37	chr11	71715028	71715028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaacggcgggttccactgcGagtgttgggggaagccttgg	18	8	0	1	rs149006752		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:71715028G>A	uc001orl.1	-	26	6413	c.6241C>T	c.(6241-6243)CGC>TGC	p.R2081C	IL18BP_uc009ysu.1_Intron|NUMA1_uc001orj.2_Missense_Mutation_p.R263C|NUMA1_uc009ysw.1_Missense_Mutation_p.R1648C|NUMA1_uc001ork.1_Missense_Mutation_p.R945C|NUMA1_uc001orm.1_Missense_Mutation_p.R2067C	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	2081					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						GTTCCACTGCGAGTGTTGGGG	0.637			T	RARA	APL								A	71715028	G	A	71715028	3	1	158	1	0	0	0	0	1	0	0	0	10750	1058	37	1	114	1	NUMA1	11	71715028	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	421176	71715028	63291488	1675	85456											
NUMA1	4926	broad.mit.edu	37	chr11	71724872	71724872	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccaagctgctgatgAggctatttttcctctcagcc	7	15	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:71724872A>G	uc001orl.1	-	15	3849	c.3677T>C	c.(3676-3678)CTC>CCC	p.L1226P	NUMA1_uc009ysw.1_Missense_Mutation_p.L789P|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.L1226P|NUMA1_uc001orn.2_Missense_Mutation_p.L789P|NUMA1_uc009ysx.1_Missense_Mutation_p.L1226P|NUMA1_uc001oro.1_Missense_Mutation_p.L1226P	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1226	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						GCTGCTGATGAGGCTATTTTT	0.602			T	RARA	APL								G	71724872	A	G	71724872	3	3	158	1	0	0	0	0	1	0	0	0	10750	304	11	3	2722	3	NUMA1	11	71724872	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	9844	71724872	63281644	1676	85457											
NUMA1	4926	broad.mit.edu	37	chr11	71725797	71725797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcaccaaggtctccaagcGggccacctctttgctggtgg	13	14	2	0	rs61756008	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:71725797G>A	uc001orl.1	-	15	2924	c.2752C>T	c.(2752-2754)CGC>TGC	p.R918C	NUMA1_uc009ysw.1_Missense_Mutation_p.R481C|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.R918C|NUMA1_uc001orn.2_Missense_Mutation_p.R481C|NUMA1_uc009ysx.1_Missense_Mutation_p.R918C|NUMA1_uc001oro.1_Missense_Mutation_p.R918C	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	918	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						GTCTCCAAGCGGGCCACCTCT	0.602			T	RARA	APL								A	71725797	G	A	71725797	3	1	158	1	0	0	0	0	1	0	0	0	10750	1116	39	1	3647	1	NUMA1	11	71725797	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	925	71725797	63280719	1677	85458											
NUMA1	4926	broad.mit.edu	37	chr11	71732293	71732293	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcattaaggtttagcccGtcctcatggtccagcacaaa	7	13	2	0	rs141785503	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:71732293G>A	uc001orl.1	-	8	589	c.417C>T	c.(415-417)GAC>GAT	p.D139D	NUMA1_uc001ork.1_Silent_p.D139D|NUMA1_uc001orm.1_Silent_p.D139D|NUMA1_uc009ysx.1_Silent_p.D139D|NUMA1_uc001oro.1_Silent_p.D139D|NUMA1_uc009ysy.1_Silent_p.D139D|NUMA1_uc001orp.2_Silent_p.D139D|NUMA1_uc001orq.2_Silent_p.D139D	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	139					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						GGTTTAGCCCGTCCTCATGGT	0.478			T	RARA	APL								A	71732293	G	A	71732293	2	1	158	1	0	0	0	0	0	0	0	1	10750	1136	40	1		1	NUMA1	11	71732293	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	6496	71732293	63274223	1678	85459											
P2RY6	5031	broad.mit.edu	37	chr11	73008546	73008546	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaatggcagaggcagggtcGctgagtcctccaggtcctgg	15	11	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:73008546G>T	uc001otm.2	+	4	1388	c.983G>T	c.(982-984)CGC>CTC	p.R328L	P2RY6_uc001otn.2_Missense_Mutation_p.R328L|P2RY6_uc001oto.2_Missense_Mutation_p.R328L|P2RY6_uc001otp.2_Missense_Mutation_p.R328L|P2RY6_uc001otq.2_Missense_Mutation_p.R328L|P2RY6_uc001otr.2_Missense_Mutation_p.R328L|P2RY6_uc001ots.2_Missense_Mutation_p.R328L	NM_176796	NP_789766	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y6	328	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1						AGGCAGGGTCGCTGAGTCCTC	0.577													T	73008546	G	T	73008546	3	4	158	1	0	0	0	0	1	0	0	0	11354	1087	38	5	985	5	P2RY6	11	73008546	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1276253	73008546	61997970	1679	85460											
C2CD3	26005	broad.mit.edu	37	chr11	73760478	73760478	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagcaacttttatctgcccCtggcactctccactgaagtc	6	15	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:73760478C>A	uc001ouu.2	-	27	5492	c.5265G>T	c.(5263-5265)CAG>CAT	p.Q1755H	C2CD3_uc001out.2_RNA	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1755						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					TTATCTGCCCCTGGCACTCTC	0.507													A	73760478	C	A	73760478	3	1	158	1	0	0	0	0	1	0	0	0	2154	680	24	5	646	5	C2CD3	11	73760478	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	751932	73760478	61246038	1680	85461											
C2CD3	26005	broad.mit.edu	37	chr11	73834038	73834038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttcagtgacttacaggtgCtgtataaaataaattctcca	8	7	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:73834038C>T	uc001ouu.2	-	8	1587	c.1360G>A	c.(1360-1362)GCA>ACA	p.A454T	C2CD3_uc001ouv.2_Missense_Mutation_p.A454T	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	454						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					CTTACAGGTGCTGTATAAAAT	0.338													T	73834038	C	T	73834038	3	4	158	1	0	0	0	0	1	0	0	0	2154	797	28	2	4627	2	C2CD3	11	73834038	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	73560	73834038	61172478	1681	85462											
PPME1	51400	broad.mit.edu	37	chr11	73933379	73933379	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgattattagtagagttcAgtgtaggattgtagctttgg	13	3	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:73933379A>G	uc001ouw.2	+	4	410	c.311A>G	c.(310-312)CAG>CGG	p.Q104R	PPME1_uc009yty.2_5'UTR	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	104					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity				0	Breast(11;3.29e-05)					AGTAGAGTTCAGTGTAGGATT	0.358													G	73933379	A	G	73933379	3	3	158	1	0	0	0	0	1	0	0	0	12347	188	7	3	325	3	PPME1	11	73933379	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	99341	73933379	61073137	1682	85463											
POLD3	10714	broad.mit.edu	37	chr11	74315840	74315840	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattcagaatggacattccGtaagttctcagagccttgta	8	9	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:74315840G>A	uc001ovf.1	+	3	294	c.219_splice	c.e3+1	p.S73_splice	POLD3_uc009yua.1_Intron	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	DNA-directed DNA polymerase delta 3						base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			kidney(2)|ovary(1)	3	Breast(11;3.21e-06)					TGGACATTCCGTAAGTTCTCA	0.378													A	74315840	G	A	74315840	5	1	158	1	0	0	0	0	0	0	1	0	12192	1159	40	1	230	1	POLD3	11	74315840	Splice_Site	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	382461	74315840	60690676	1683	85464											
GDPD5	81544	broad.mit.edu	37	chr11	75161000	75161000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccgacatggccaccaccGtggaagccaggatgaccacc	12	16	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:75161000G>A	uc001owo.3	-	8	941	c.404C>T	c.(403-405)ACG>ATG	p.T135M	GDPD5_uc001owp.3_Missense_Mutation_p.T135M|GDPD5_uc001own.3_Translation_Start_Site|GDPD5_uc009yuc.2_Translation_Start_Site|GDPD5_uc009yud.2_Intron|GDPD5_uc009yue.1_Intron	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain	135	Helical; (Potential).				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			ovary(1)	1						GGCCACCACCGTGGAAGCCAG	0.627													A	75161000	G	A	75161000	3	1	158	1	0	0	0	0	1	0	0	0	6327	1145	40	1	1457	1	GDPD5	11	75161000	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	845160	75161000	59845516	1684	85465											
MYO7A	4647	broad.mit.edu	37	chr11	76867932	76867932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaatgccaagaccatccGcaatgacaactcaagccgtt	9	12	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:76867932G>A	uc001oyb.2	+	7	889	c.617G>A	c.(616-618)CGC>CAC	p.R206H	MYO7A_uc010rsl.1_Missense_Mutation_p.R206H|MYO7A_uc010rsm.1_Missense_Mutation_p.R195H|MYO7A_uc001oyc.2_Missense_Mutation_p.R206H	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	206	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						AAGACCATCCGCAATGACAAC	0.582													A	76867932	G	A	76867932	3	1	158	1	0	0	0	0	1	0	0	0	10082	1087	38	1	639	1	MYO7A	11	76867932	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1706932	76867932	58138584	1685	85466											
KCTD14	65987	broad.mit.edu	37	chr11	77727916	77727916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacaagcacgctggacttcCgtgctgttatggcttctgca	10	12	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:77727916C>T	uc001oyw.3	-	2	516	c.491G>A	c.(490-492)CGG>CAG	p.R164Q		NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	potassium channel tetramerisation domain	164						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			GCTGGACTTCCGTGCTGTTAT	0.532													T	77727916	C	T	77727916	3	4	158	1	0	0	0	0	1	0	0	0	8101	652	23	1	280	1	KCTD14	11	77727916	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	859984	77727916	57278600	1686	85467											
KCTD21	283219	broad.mit.edu	37	chr11	77885356	77885356	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggtagaagtcggcctccCtgcggagcagccccatctcc	11	17	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:77885356C>A	uc001ozb.2	-	2	320	c.245G>T	c.(244-246)AGG>ATG	p.R82M		NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	potassium channel tetramerisation domain	82						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GTCGGCCTCCCTGCGGAGCAG	0.582													A	77885356	C	A	77885356	3	1	158	1	0	0	0	0	1	0	0	0	8109	681	24	5	541	5	KCTD21	11	77885356	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	157440	77885356	57121160	1687	85468											
ODZ4	26011	broad.mit.edu	37	chr11	78369318	78369318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggcccacgcttggcgcaCggctctctgccgggccagct	15	17	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:78369318C>T	uc001ozl.3	-	34	8558	c.8095G>A	c.(8095-8097)GTG>ATG	p.V2699M	ODZ4_uc001ozk.3_Missense_Mutation_p.V924M|ODZ4_uc009yvb.1_Intron	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2699	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GCTTGGCGCACGGCTCTCTGC	0.667													T	78369318	C	T	78369318	3	4	158	1	0	0	0	0	1	0	0	0	10837	536	19	1	218	1	ODZ4	11	78369318	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	483962	78369318	56637198	1688	85469											
ODZ4	26011	broad.mit.edu	37	chr11	78423525	78423525	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctctaaggcaaggccttAcccctgggattggtgagtgt	13	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:78423525A>G	uc001ozl.3	-	26	4517	c.4054_splice	c.e26+1	p.G1352_splice		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4						signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GCAAGGCCTTACCCCTGGGAT	0.438													G	78423525	A	G	78423525	5	3	158	1	0	0	0	0	0	0	1	0	10837	405	14	3	4289	3	ODZ4	11	78423525	Splice_Site	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	54207	78423525	56582991	1689	85470											
GRM5	2915	broad.mit.edu	37	chr11	88323855	88323855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcattctccttacaaggtGtacaggtccaacaacagctg	7	12	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:88323855G>A	uc001pcq.2	-	6	1804	c.1604C>T	c.(1603-1605)ACA>ATA	p.T535I	GRM5_uc009yvm.2_Missense_Mutation_p.T535I	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	535	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTTACAAGGTGTACAGGTCCA	0.393													A	88323855	G	A	88323855	3	1	158	1	0	0	0	0	1	0	0	0	6800	1377	48	4	2050	4	GRM5	11	88323855	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	9900330	88323855	46682661	1690	85471											
FAT3	120114	broad.mit.edu	37	chr11	92087421	92087421	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaagatggatttcttgacTtttattcaattaatagacag	8	4	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:92087421T>G	uc001pdj.3	+	1	2160	c.2143T>G	c.(2143-2145)TTT>GTT	p.F715V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	715	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTTCTTGACTTTTATTCAAT	0.403										TCGA Ovarian(4;0.039)			G	92087421	T	G	92087421	3	3	158	1	0	0	0	0	1	0	0	0	5691	1609	56	5	2145	5	FAT3	11	92087421	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	3763566	92087421	42919095	1691	85472											
FAT3	120114	broad.mit.edu	37	chr11	92087601	92087601	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaatacggatagttgctttAatattgatatggagactggg	12	3	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:92087601A>G	uc001pdj.3	+	1	2340	c.2323A>G	c.(2323-2325)AAT>GAT	p.N775D		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	775	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAGTTGCTTTAATATTGATAT	0.393										TCGA Ovarian(4;0.039)			G	92087601	A	G	92087601	3	3	158	1	0	0	0	0	1	0	0	0	5691	362	13	3	2325	3	FAT3	11	92087601	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	180	92087601	42918915	1692	85473											
C11orf54	28970	broad.mit.edu	37	chr11	93494790	93494790	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaatatcttggatacttctTacctgcagagtttctctatc	7	9	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:93494790T>C	uc009ywi.2	+	10	1215	c.884T>C	c.(883-885)TTA>TCA	p.L295S	C11orf54_uc001pef.2_Missense_Mutation_p.L245S|C11orf54_uc001peg.2_Missense_Mutation_p.L295S|C11orf54_uc001peh.2_Missense_Mutation_p.L295S|C11orf54_uc001pei.2_Missense_Mutation_p.L276S|C11orf54_uc001pej.2_Missense_Mutation_p.L276S|C11orf54_uc001pek.2_Missense_Mutation_p.L184S	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN	hypothetical protein LOC28970	295						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding				0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGATACTTCTTACCTGCAGAG	0.373													C	93494790	T	C	93494790	3	2	158	1	0	0	0	0	1	0	0	0	1649	1764	61	3	760	3	C11orf54	11	93494790	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1407189	93494790	41511726	1693	85474											
AMOTL1	154810	broad.mit.edu	37	chr11	94533351	94533351	+	Frame_Shift_Del	DEL	T	T	-													caagacccaggagcacggacTtttttatggtgaccagcacc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:94533350_94533350CT>C	uc001pfb.3	+	2	1164	c.994_994CT>C	c.(994-996)cttfs	p.L332fs	AMOTL1_uc001pfc.3_Frame_Shift_Del_p.L282fs	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	332						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GGAGCACGGACTTTTTTATGG	0.587													-	94533351	T	-	94533351	7	5	158	1	0	1	0	1	0	0	0	0	583	1609	56	0	1005	0	AMOTL1	11	94533351	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	1038561	94533351	40473165	1694	85475											
AMOTL1	154810	broad.mit.edu	37	chr11	94564661	94564661	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactatccagcagggaataCgaagggcatgaagacaaagc	11	9	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:94564661C>T	uc001pfb.2	+	6	1772	c.1602C>T	c.(1600-1602)TAC>TAT	p.Y534Y	AMOTL1_uc001pfc.2_Silent_p.Y484Y	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	534	Potential.					cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GCAGGGAATACGAAGGGCATG	0.408													T	94564661	C	T	94564661	2	4	158	1	0	0	0	0	0	0	0	1	583	547	19	1		1	AMOTL1	11	94564661	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	31310	94564661	40441855	1695	85476											
MAML2	84441	broad.mit.edu	37	chr11	95724791	95724791	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgattcaacagtgattGctgggagttcatgtaaccac	10	8	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:95724791G>A	uc001pfw.1	-	3	3521	c.2236C>T	c.(2236-2238)CAA>TAA	p.Q746*		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	746					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				AACAGTGATTGCTGGGAGTTC	0.493			T	MECT1|CRTC3	salivary gland mucoepidermoid								A	95724791	G	A	95724791	4	1	158	1	0	0	0	0	0	1	0	0	9206	1328	46	2	1246	2	MAML2	11	95724791	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1160130	95724791	39281725	1696	85477											
DDI1	414301	broad.mit.edu	37	chr11	103907643	103907643	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgagctccgaaacttcaaGgtcctctgcgaagcggagtc	11	11	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:103907643G>T	uc001phr.2	+	1	336	c.93G>T	c.(91-93)AAG>AAT	p.K31N	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	31	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GAAACTTCAAGGTCCTCTGCG	0.567													T	103907643	G	T	103907643	3	4	158	1	0	0	0	0	1	0	0	0	4328	991	35	5	95	5	DDI1	11	103907643	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	8182852	103907643	31098873	1697	85478											
DDI1	414301	broad.mit.edu	37	chr11	103908618	103908618	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatcggcaccactggcacGcagacttattttcttcctga	8	13	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:103908618G>A	uc001phr.2	+	1	1311	c.1068G>A	c.(1066-1068)ACG>ACA	p.T356T	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	356					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCACTGGCACGCAGACTTATT	0.463													A	103908618	G	A	103908618	2	1	158	1	0	0	0	0	0	0	0	1	4328	1074	38	1		1	DDI1	11	103908618	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	975	103908618	31097898	1698	85479											
CASP4	837	broad.mit.edu	37	chr11	104825595	104825595	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actttgtcttcagttttagcAtcgtaatatttctttttttc	4	7	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:104825595A>G	uc001pid.1	-	2	214	c.141T>C	c.(139-141)GAT>GAC	p.D47D	CASP4_uc001pib.1_5'UTR|CASP4_uc009yxg.1_5'UTR|CASP4_uc010rux.1_Silent_p.D47D|CASP4_uc010ruy.1_Silent_p.D47D	NM_001225	NP_001216	P49662	CASP4_HUMAN	caspase 4 isoform alpha precursor	47	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			lung(2)|ovary(1)|skin(1)	4		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CAGTTTTAGCATCGTAATATT	0.403													G	104825595	A	G	104825595	2	3	158	1	0	0	0	0	0	0	0	1	2673	214	8	3		3	CASP4	11	104825595	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	916977	104825595	30180921	1699	85480											
KIAA1826	84437	broad.mit.edu	37	chr11	105880389	105880389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatccttttccagttgcaagCgttctcgctcaagttttaac	6	11	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:105880389C>T	uc001piy.2	-	3	1084	c.911G>A	c.(910-912)CGC>CAC	p.R304H	KIAA1826_uc001piz.2_Missense_Mutation_p.R304H	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	hypothetical protein LOC84437	304	Potential.					nucleus				breast(1)	1		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)		CAGTTGCAAGCGTTCTCGCTC	0.418													T	105880389	C	T	105880389	3	4	158	1	0	0	0	0	1	0	0	0	8260	768	27	1	130	1	KIAA1826	11	105880389	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1054794	105880389	29126127	1700	85481											
ARHGAP20	57569	broad.mit.edu	37	chr11	110494938	110494938	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaaacaaaggatttcaTggcattggtgttgccttctc	9	10	2	0	rs73553992	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:110494938T>C	uc001pkz.1	-	5	736	c.451A>G	c.(451-453)ATG>GTG	p.M151V	ARHGAP20_uc001pky.1_Missense_Mutation_p.M128V|ARHGAP20_uc009yyb.1_Missense_Mutation_p.M115V|ARHGAP20_uc001pla.1_Missense_Mutation_p.M115V	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	151	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AAGGATTTCATGGCATTGGTG	0.388													C	110494938	T	C	110494938	3	2	158	1	0	0	0	0	1	0	0	0	870	1464	51	3	3172	3	ARHGAP20	11	110494938	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	4614549	110494938	24511578	1701	85482											
ARHGAP20	57569	broad.mit.edu	37	chr11	110582930	110582930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggctgtccccctagagtctCctgctggggggacatcgctt	13	14	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:110582930C>T	uc001pkz.1	-	2	310	c.25G>A	c.(25-27)GAG>AAG	p.E9K	ARHGAP20_uc001pky.1_5'Flank|ARHGAP20_uc009yyb.1_Intron|ARHGAP20_uc001pla.1_Intron	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	9					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CCTAGAGTCTCCTGCTGGGGG	0.612													T	110582930	C	T	110582930	3	4	158	1	0	0	0	0	1	0	0	0	870	864	30	4	3610	4	ARHGAP20	11	110582930	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	87992	110582930	24423586	1702	85483											
NCAM1	4684	broad.mit.edu	37	chr11	113078026	113078026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaatattgtgaatgccacCgccaacctcggccagtccgt	9	14	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:113078026C>T	uc009yyq.1	+	6	1012	c.318C>T	c.(316-318)ACC>ACT	p.T106T	NCAM1_uc001pno.2_Silent_p.T106T	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	224	Ig-like C2-type 3.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGAATGCCACCGCCAACCTCG	0.527													T	113078026	C	T	113078026	2	4	158	1	0	0	0	0	0	0	0	1	10202	639	23	1		1	NCAM1	11	113078026	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2495096	113078026	21928490	1703	85484											
TTC12	54970	broad.mit.edu	37	chr11	113215128	113215128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcccagactgagagcggaCggagcctgatcatcaaccac	11	14	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:113215128C>T	uc001pnu.2	+	13	1225	c.1120C>T	c.(1120-1122)CGG>TGG	p.R374W	TTC12_uc001pnv.2_Missense_Mutation_p.R380W|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.R224W	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	374							binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TGAGAGCGGACGGAGCCTGAT	0.597													T	113215128	C	T	113215128	3	4	158	1	0	0	0	0	1	0	0	0	16676	527	19	1	1166	1	TTC12	11	113215128	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	137102	113215128	21791388	1704	85485											
DRD2	1813	broad.mit.edu	37	chr11	113286217	113286217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcgcttgcggcgtctgcGgaggacaatgtagatcttga	14	9	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:113286217G>A	uc001pnz.2	-	4	970	c.649C>T	c.(649-651)CGC>TGC	p.R217C	DRD2_uc010rwv.1_Missense_Mutation_p.R216C|DRD2_uc001poa.3_Missense_Mutation_p.R217C|DRD2_uc001pob.3_Missense_Mutation_p.R217C|DRD2_uc009yyr.1_Missense_Mutation_p.R217C	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	217	Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CGGCGTCTGCGGAGGACAATG	0.572													A	113286217	G	A	113286217	3	1	158	1	0	0	0	0	1	0	0	0	4757	1116	39	1	698	1	DRD2	11	113286217	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	71089	113286217	21720299	1705	85486											
USP28	57646	broad.mit.edu	37	chr11	113674571	113674571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagatacacagacacttttCggaacaaactataatcttca	6	9	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:113674571C>T	uc001poh.2	-	22	2720	c.2687G>A	c.(2686-2688)CGA>CAA	p.R896Q	USP28_uc001pog.2_Missense_Mutation_p.R572Q|USP28_uc010rwy.1_Missense_Mutation_p.R739Q|USP28_uc001poi.2_Missense_Mutation_p.R219Q	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	896					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AGACACTTTTCGGAACAAACT	0.333													T	113674571	C	T	113674571	3	4	158	1	0	0	0	0	1	0	0	0	17055	884	31	1	562	1	USP28	11	113674571	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	388354	113674571	21331945	1706	85487											
APOA1	335	broad.mit.edu	37	chr11	116707013	116707013	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctcatctcctgcctcagGccctctgtctccttttccag	6	17	5	0	rs148950234	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:116707013G>A	uc001ppu.1	-	4	394	c.315C>T	c.(313-315)GGC>GGT	p.G105G	APOA1_uc001ppv.1_Silent_p.G105G	NM_000039	NP_000030	P02647	APOA1_HUMAN	apolipoprotein A-I preproprotein	105	10 X approximate tandem repeats.|2.				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding				0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCTGCCTCAGGCCCTCTGTCT	0.587													A	116707013	G	A	116707013	2	1	158	1	0	0	0	0	0	0	0	1	780	1190	42	2		2	APOA1	11	116707013	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3032442	116707013	18299503	1707	85488											
SIK3	23387	broad.mit.edu	37	chr11	116717120	116717120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtttcttgttacacgcCtgcctgctccatgctgaagg	9	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:116717120C>A	uc001ppy.2	-	23	3820	c.3784G>T	c.(3784-3786)GGC>TGC	p.G1262C	SIK3_uc001ppz.2_Missense_Mutation_p.G1101C|SIK3_uc001pqa.2_Missense_Mutation_p.G1202C|SIK3_uc001ppw.2_Missense_Mutation_p.G619C|SIK3_uc001ppx.2_Missense_Mutation_p.G640C	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	1262						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						TGTTACACGCCTGCCTGCTCC	0.542													A	116717120	C	A	116717120	3	1	158	1	0	0	0	0	1	0	0	0	14319	681	24	5	11	5	SIK3	11	116717120	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	10107	116717120	18289396	1708	85489											
CEP164	22897	broad.mit.edu	37	chr11	117265851	117265851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaaggaggagaccgccCggagggagaagcagcagctg	17	11	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:117265851C>T	uc001prc.2	+	23	3004	c.2857C>T	c.(2857-2859)CGG>TGG	p.R953W	CEP164_uc001prb.2_Missense_Mutation_p.R956W|CEP164_uc010rxk.1_Missense_Mutation_p.R927W|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.R386W	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	953	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GGAGACCGCCCGGAGGGAGAA	0.562													T	117265851	C	T	117265851	3	4	158	1	0	0	0	0	1	0	0	0	3249	643	23	1	2939	1	CEP164	11	117265851	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	548731	117265851	17740665	1709	85490											
TMPRSS4	56649	broad.mit.edu	37	chr11	117985944	117985944	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtaccagggggaagtcacCgagaagatgatgtgtgcagg	17	7	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:117985944C>T	uc010rxo.1	+	11	1392	c.1101C>T	c.(1099-1101)ACC>ACT	p.T367T	TMPRSS4_uc010rxp.1_Silent_p.T362T|TMPRSS4_uc010rxq.1_Silent_p.T220T|TMPRSS4_uc010rxr.1_Silent_p.T342T|TMPRSS4_uc010rxs.1_Silent_p.T327T|TMPRSS4_uc009yzu.2_Intron|TMPRSS4_uc010rxt.1_Silent_p.T342T	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4 isoform 1	367	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GGGAAGTCACCGAGAAGATGA	0.572													T	117985944	C	T	117985944	2	4	158	1	0	0	0	0	0	0	0	1	16246	639	23	1		1	TMPRSS4	11	117985944	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	720093	117985944	17020572	1710	85491											
MLL	4297	broad.mit.edu	37	chr11	118391565	118391565	+	Frame_Shift_Del	DEL	A	A	-													cccatgcgcttccggcacttAaaaaagacttctaaggaggc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:118391564_118391564TA>T	uc001pta.3	+	33	11491	c.11468_11468TA>T	c.(11467-11469)ttafs	p.L3823fs	MLL_uc001ptb.3_Frame_Shift_Del_p.L3826fs	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	3823					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TTCCGGCACTTAAAAAAGACT	0.373			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								-	118391565	A	-	118391565	7	5	158	1	0	1	0	1	0	0	0	0	9620	359	13	0	11603	0	MLL	11	118391565	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	405621	118391565	16614951	1711	85492											
TMEM25	84866	broad.mit.edu	37	chr11	118403685	118403685	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accaggaagctcagggcccaGgcctcctggttgtcctgttt	12	13	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:118403685G>T	uc010rye.1	+	4	610	c.436G>T	c.(436-438)GGC>TGC	p.G146C	TMEM25_uc010ryd.1_Missense_Mutation_p.G146C|TMEM25_uc001ptk.3_Missense_Mutation_p.G146C|TMEM25_uc001pth.2_Missense_Mutation_p.G146C|TMEM25_uc009zad.2_Missense_Mutation_p.G146C|TMEM25_uc001pti.2_Missense_Mutation_p.G42C|TMEM25_uc010ryf.1_Intron|TMEM25_uc001ptl.2_Missense_Mutation_p.G146C|TMEM25_uc001ptm.2_Missense_Mutation_p.G146C|TMEM25_uc001ptn.2_Missense_Mutation_p.G146C	NM_032780	NP_116169	Q86YD3	TMM25_HUMAN	transmembrane protein 25 isoform 1	146	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TCAGGGCCCAGGCCTCCTGGT	0.592													T	118403685	G	T	118403685	3	4	158	1	0	0	0	0	1	0	0	0	16147	1000	35	5	446	5	TMEM25	11	118403685	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	12120	118403685	16602831	1712	85493											
DPAGT1	1798	broad.mit.edu	37	chr11	118972338	118972338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcaaattgatcagcagcgGcatgggcaattccgagaagg	13	8	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:118972338G>A	uc001pvi.2	-	1	448	c.28C>T	c.(28-30)CCG>TCG	p.P10S	DPAGT1_uc001pvj.2_5'UTR|DPAGT1_uc009zaq.2_RNA|DPAGT1_uc001pvk.2_5'UTR|DPAGT1_uc010ryz.1_Missense_Mutation_p.P10S|DPAGT1_uc001pvm.1_5'Flank|DPAGT1_uc010rza.1_5'UTR	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN	UDP-N-acetylglucosamine-dolichyl-phosphate	10	Helical; (Potential).				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|ovary(1)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		ATCAGCAGCGGCATGGGCAAT	0.637											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	118972338	G	A	118972338	3	1	158	1	0	0	0	0	1	0	0	0	4710	1203	42	2	1234	2	DPAGT1	11	118972338	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	568653	118972338	16034178	1713	85494											
RNF26	79102	broad.mit.edu	37	chr11	119206877	119206877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaccatcagagtgacaCctgtcaggggccgagagagg	15	11	2	3	rs150700766		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:119206877C>T	uc001pwh.2	+	1	1641	c.1045C>T	c.(1045-1047)CCT>TCT	p.P349S		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	ring finger protein 26	349							zinc ion binding			ovary(1)	1		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		CAGAGTGACACCTGTCAGGGG	0.577													T	119206877	C	T	119206877	3	4	158	1	0	0	0	0	1	0	0	0	13486	507	18	4	1047	4	RNF26	11	119206877	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	234539	119206877	15799639	1714	85495											
MFRP	83552	broad.mit.edu	37	chr11	119213688	119213688	+	Frame_Shift_Del	DEL	G	G	-													atggtgcgaggagacgaggtGggggggtggctctgctccac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:119213688delG	uc001pwj.2	-	10	1310	c.1150delC	c.(1150-1152)CACfs	p.H384fs	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Frame_Shift_Del_p.P308fs	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GAGACGAGGTGGGGGGGTGGC	0.622													-	119213688	G	-	119213688	7	5	158	1	0	1	0	1	0	0	0	0	9526	1348	47	0	605	0	MFRP	11	119213688	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	6811	119213688	15792828	1715	85496											
C1QTNF5	114902	broad.mit.edu	37	chr11	119216273	119216274	+	Frame_Shift_Ins	INS	-	-	G													gccacacgcagtgggtgttgINSggggggtaagggtctgggta							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:119216272_119216273T>TG	uc010rzg.1	-	4	658_659	c.498_499A>CA	c.(496-501)cccaacfs	p.P166fs	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	166	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CAGTGGGTGTTGGGGGGGTAAG	0.564													G	119216274	-	G	119216273	7	5	158	1	0	1	1	0	0	0	0	0	1966	1335	47	0		0	C1QTNF5	11	119216273	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	2585	119216273	15790243	1716	85497											
USP2	9099	broad.mit.edu	37	chr11	119230923	119230923	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaggtttcgaagaccagccaGaccctgggcactcttagaat	10	11	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:119230923G>A	uc001pwm.3	-	3	1091	c.796C>T	c.(796-798)CTG>TTG	p.L266L	USP2_uc001pwl.3_Silent_p.L57L|USP2_uc001pwn.3_Silent_p.L23L	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	266					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGACCAGCCAGACCCTGGGCA	0.507													A	119230923	G	A	119230923	2	1	158	1	0	0	0	0	0	0	0	1	17048	933	33	4		4	USP2	11	119230923	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	14650	119230923	15775593	1717	85498											
OAF	220323	broad.mit.edu	37	chr11	120097590	120097590	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcatctgcacatggatgtCgctgtcaacttcagccaggg	12	11	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:120097590C>T	uc001pxb.2	+	3	673	c.432C>T	c.(430-432)GTC>GTT	p.V144V		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	OAF homolog precursor	144											0		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		ACATGGATGTCGCTGTCAACT	0.622													T	120097590	C	T	120097590	2	4	158	1	0	0	0	0	0	0	0	1	10798	871	31	1		1	OAF	11	120097590	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	866667	120097590	14908926	1718	85499											
ARHGEF12	23365	broad.mit.edu	37	chr11	120331450	120331450	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgttatcgatcagattggggAagatttgctgacatgggtaa	13	4	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:120331450A>T	uc001pxl.1	+	27	2604	c.2597A>T	c.(2596-2598)GAA>GTA	p.E866V	ARHGEF12_uc009zat.2_Missense_Mutation_p.E847V|ARHGEF12_uc010rzn.1_Missense_Mutation_p.E763V|ARHGEF12_uc009zau.1_Missense_Mutation_p.E763V	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	866	DH.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CAGATTGGGGAAGATTTGCTG	0.323			T	MLL	AML								T	120331450	A	T	120331450	3	4	158	1	0	0	0	0	1	0	0	0	897	246	9	5	2703	5	ARHGEF12	11	120331450	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	233860	120331450	14675066	1719	85500											
ARHGEF12	23365	broad.mit.edu	37	chr11	120351055	120351055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagcacttttttgatgccCgtgaagcacatagtgatgag	12	7	0	5			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:120351055C>T	uc001pxl.1	+	38	4160	c.4153C>T	c.(4153-4155)CGT>TGT	p.R1385C	ARHGEF12_uc009zat.2_Missense_Mutation_p.R1366C|ARHGEF12_uc009zau.1_Missense_Mutation_p.R1282C	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1385					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TTTTGATGCCCGTGAAGCACA	0.438			T	MLL	AML								T	120351055	C	T	120351055	3	4	158	1	0	0	0	0	1	0	0	0	897	652	23	1	4303	1	ARHGEF12	11	120351055	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	19605	120351055	14655461	1720	85501											
SORL1	6653	broad.mit.edu	37	chr11	121424682	121424682	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctgtatgctgtgaggaaatCcatctaccgctatgacctgg	10	10	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:121424682C>A	uc001pxx.2	+	17	2383	c.2303C>A	c.(2302-2304)TCC>TAC	p.S768Y		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	768	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTGAGGAAATCCATCTACCGC	0.562													A	121424682	C	A	121424682	3	1	158	1	0	0	0	0	1	0	0	0	14934	855	30	5	2369	5	SORL1	11	121424682	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1073627	121424682	13581834	1721	85502											
OR8D1	283159	broad.mit.edu	37	chr11	124180508	124180508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggtgtgaagtagagggCtgactgcaatcaggagaatc	17	5	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:124180508C>T	uc010sag.1	-	1	155	c.155G>A	c.(154-156)AGC>AAC	p.S52N		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	52	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AAGTAGAGGGCTGACTGCAAT	0.512													T	124180508	C	T	124180508	3	4	158	1	0	0	0	0	1	0	0	0	11231	797	28	2	774	2	OR8D1	11	124180508	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2755826	124180508	10826008	1722	85503											
OR8D2	283160	broad.mit.edu	37	chr11	124189658	124189658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccagtgagtataccacagCcatcattatggaacagaccc	7	13	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:124189658C>T	uc010sah.1	-	1	436	c.436G>A	c.(436-438)GCT>ACT	p.A146T		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D,	146	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|pancreas(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TATACCACAGCCATCATTATG	0.458													T	124189658	C	T	124189658	3	4	158	1	0	0	0	0	1	0	0	0	11232	739	26	2	502	2	OR8D2	11	124189658	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	9150	124189658	10816858	1723	85504											
ROBO3	64221	broad.mit.edu	37	chr11	124742974	124742974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacggtaccctgtacatcGccaatgtgcaggtgagtgtc	11	12	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:124742974G>A	uc001qbc.2	+	9	1717	c.1525G>A	c.(1525-1527)GCC>ACC	p.A509T		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	509	Ig-like C2-type 5.|Extracellular (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCTGTACATCGCCAATGTGCA	0.562													A	124742974	G	A	124742974	3	1	158	1	0	0	0	0	1	0	0	0	13515	1087	38	1	1559	1	ROBO3	11	124742974	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	553316	124742974	10263542	1724	85505											
ROBO3	64221	broad.mit.edu	37	chr11	124748530	124748530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgagagaagtcacctgaCggagcccagctccagtggag	14	12	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:124748530C>T	uc001qbc.2	+	23	3563	c.3371C>T	c.(3370-3372)ACG>ATG	p.T1124M	ROBO3_uc001qbd.2_Missense_Mutation_p.T49M|ROBO3_uc010sar.1_Missense_Mutation_p.T173M|ROBO3_uc001qbe.2_Missense_Mutation_p.T49M|ROBO3_uc001qbf.1_Missense_Mutation_p.T8M	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	1124	Cytoplasmic (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AGTCACCTGACGGAGCCCAGC	0.597													T	124748530	C	T	124748530	3	4	158	1	0	0	0	0	1	0	0	0	13515	536	19	1	3461	1	ROBO3	11	124748530	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	5556	124748530	10257986	1725	85506											
PKNOX2	63876	broad.mit.edu	37	chr11	125300002	125300002	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catcgctgcgggggtgctgcAgcagcagggcggtgccccag	18	13	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:125300002A>T	uc001qbu.2	+	12	1471	c.1157A>T	c.(1156-1158)CAG>CTG	p.Q386L	PKNOX2_uc010saz.1_Missense_Mutation_p.Q357L|PKNOX2_uc010sba.1_Missense_Mutation_p.Q357L|PKNOX2_uc010sbb.1_Missense_Mutation_p.Q322L|PKNOX2_uc001qbv.2_Missense_Mutation_p.Q151L	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	386						nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GGGGTGCTGCAGCAGCAGGGC	0.627													T	125300002	A	T	125300002	3	4	158	1	0	0	0	0	1	0	0	0	11983	188	7	5	1191	5	PKNOX2	11	125300002	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	551472	125300002	9706514	1726	85507											
ETS1	2113	broad.mit.edu	37	chr11	128333507	128333507	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagaaactgccatagcTggattggtccactgcctaga	10	11	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:128333507T>C	uc010sbs.1	-	7	1323	c.1007A>G	c.(1006-1008)CAG>CGG	p.Q336R	ETS1_uc001qej.2_Missense_Mutation_p.Q380R|ETS1_uc009zch.2_Missense_Mutation_p.Q120R|ETS1_uc009zcg.2_Intron	NM_005238	NP_005229	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	336	ETS.			SGPIQL -> RRPPAA (in Ref. 6; AAA52409).	cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(4)|central_nervous_system(1)|pleura(1)	6	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		CTGCCATAGCTGGATTGGTCC	0.463													C	128333507	T	C	128333507	3	2	158	1	0	0	0	0	1	0	0	0	5275	1580	55	3	326	3	ETS1	11	128333507	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	3033505	128333507	6673009	1727	85508											
ETS1	2113	broad.mit.edu	37	chr11	128350152	128350152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgaggtcagcacggtcccGcacatagtccttgaaggtgc	12	11	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:128350152G>A	uc010sbs.1	-	6	1241	c.925C>T	c.(925-927)CGG>TGG	p.R309W	ETS1_uc001qej.2_Missense_Mutation_p.R353W|ETS1_uc009zch.2_Missense_Mutation_p.R93W|ETS1_uc009zcg.2_Intron	NM_005238	NP_005229	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	309					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(4)|central_nervous_system(1)|pleura(1)	6	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GCACGGTCCCGCACATAGTCC	0.597													A	128350152	G	A	128350152	3	1	158	1	0	0	0	0	1	0	0	0	5275	1086	38	1	412	1	ETS1	11	128350152	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	16645	128350152	6656364	1728	85509											
IGSF9B	22997	broad.mit.edu	37	chr11	133790109	133790109	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccggggctggggctcatAccaccgggtgtccaggccaa	17	13	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:133790109A>G	uc001qgx.3	-	18	3742	c.3511T>C	c.(3511-3513)TAT>CAT	p.Y1171H		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1171	Pro-rich.|Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGGGGCTCATACCACCGGGTG	0.692													G	133790109	A	G	133790109	3	3	158	1	0	0	0	0	1	0	0	0	7606	391	14	3	546	3	IGSF9B	11	133790109	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	5439957	133790109	1216407	1729	85510											
IGSF9B	22997	broad.mit.edu	37	chr11	133790638	133790638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggcggggacgacatgacGgagctcagggggctgcccac	19	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:133790638G>A	uc001qgx.3	-	18	3213	c.2982C>T	c.(2980-2982)TCC>TCT	p.S994S		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	994	Pro-rich.|Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		ACGACATGACGGAGCTCAGGG	0.652													A	133790638	G	A	133790638	2	1	158	1	0	0	0	0	0	0	0	1	7606	1103	39	1		1	IGSF9B	11	133790638	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	529	133790638	1215878	1730	85511											
IGSF9B	22997	broad.mit.edu	37	chr11	133806042	133806042	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagcagagcatcctgggAgatgttgacggtgatgttct	16	6	1	5			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:133806042A>G	uc001qgx.3	-	6	958	c.727T>C	c.(727-729)TCC>CCC	p.S243P	IGSF9B_uc001qgy.1_Missense_Mutation_p.S85P	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	243	Extracellular (Potential).|Ig-like 3.					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCATCCTGGGAGATGTTGACG	0.607													G	133806042	A	G	133806042	3	3	158	1	0	0	0	0	1	0	0	0	7606	304	11	3	3378	3	IGSF9B	11	133806042	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	15404	133806042	1200474	1731	85512											
NCAPD3	23310	broad.mit.edu	37	chr11	134048793	134048793	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccaccctggctggacaCagctgggctatatcccctaa	8	15	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:134048793C>T	uc001qhd.1	-	21	3204	c.2598G>A	c.(2596-2598)CTG>CTA	p.L866L	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	866					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TGGCTGGACACAGCTGGGCTA	0.428													T	134048793	C	T	134048793	2	4	158	1	0	0	0	0	0	0	0	1	10206	465	17	4		4	NCAPD3	11	134048793	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	242751	134048793	957723	1732	85513											
NCAPD3	23310	broad.mit.edu	37	chr11	134062672	134062672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtgaaaatgactgtgatGccggatgttctgcagcagca	13	7	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:134062672G>A	uc001qhd.1	-	16	2563	c.1957C>T	c.(1957-1959)CAT>TAT	p.H653Y	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	653					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TGACTGTGATGCCGGATGTTC	0.602													A	134062672	G	A	134062672	3	1	158	1	0	0	0	0	1	0	0	0	10206	1319	46	2	2619	2	NCAPD3	11	134062672	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	13879	134062672	943844	1733	85514											
B3GAT1	27087	broad.mit.edu	37	chr11	134253714	134253714	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccccgcgggatgcgtgGgtcgcgggcgtctccgcgca	19	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:134253714G>T	uc001qhq.2	-	4	742	c.481C>A	c.(481-483)CCA>ACA	p.P161T	B3GAT1_uc001qhr.2_Missense_Mutation_p.P161T|B3GAT1_uc010scv.1_Missense_Mutation_p.P174T	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	161	Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GGGATGCGTGGGTCGCGGGCG	0.716													T	134253714	G	T	134253714	3	4	158	1	0	0	0	0	1	0	0	0	1253	1232	43	5	535	5	B3GAT1	11	134253714	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	191042	134253714	752802	1734	85515											
B3GAT1	27087	broad.mit.edu	37	chr11	134253811	134253811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcaggcgcgcggtcagCggcgtccggcgcggcgcatc	18	16	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:134253811C>T	uc001qhq.2	-	4	645	c.384G>A	c.(382-384)CCG>CCA	p.P128P	B3GAT1_uc001qhr.2_Silent_p.P128P|B3GAT1_uc010scv.1_Silent_p.P141P	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	128	Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GCGCGGTCAGCGGCGTCCGGC	0.716													T	134253811	C	T	134253811	2	4	158	1	0	0	0	0	0	0	0	1	1253	755	27	1		1	B3GAT1	11	134253811	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	97	134253811	752705	1735	85516											
SLC6A13	6540	broad.mit.edu	37	chr12	344291	344291	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgcgtgaggtttgggtacaGgtaaaactgaattccttggg	14	6	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:344291G>T	uc001qic.1	-	7	849	c.796C>A	c.(796-798)CTG>ATG	p.L266M	SLC6A13_uc009zdj.1_Missense_Mutation_p.L266M|SLC6A13_uc010sdl.1_Missense_Mutation_p.L174M|SLC6A13_uc010sdm.1_Missense_Mutation_p.L147M	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	266					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TTTGGGTACAGGTAAAACTGA	0.562													T	344291	G	T	344291	3	4	158	1	0	0	0	0	1	0	0	0	14676	991	35	5	1048	5	SLC6A13	12	344291	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08		344291	133507604	1736	85517											
WNK1	65125	broad.mit.edu	37	chr12	1017928	1017929	+	Frame_Shift_Ins	INS	-	-	C													tgcagaaatccatcagcaacINScccccaggctccaacctgcg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:1017927_1017928A>AC	uc021qss.1	+	27	8541_8542	c.7898_7899A>AC	c.(7897-7899)aacfs	p.N2633fs	WNK1_uc001qio.4_Frame_Shift_Ins_p.N2373fs|WNK1_uc021qst.1_Frame_Shift_Ins_p.N2625fs|WNK1_uc001qip.4_Frame_Shift_Ins_p.N2125fs|WNK1_uc001qir.4_Frame_Shift_Ins_p.N1546fs	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	2373					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCCATCAGCAACCCCCCAGGCT	0.559													C	1017929	-	C	1017928	7	5	158	1	0	1	1	0	0	0	0	0	17374	506	18	0	8731	0	WNK1	12	1017928	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	673637	1017928	132833967	1737	85518											
ERC1	23085	broad.mit.edu	37	chr12	1346032	1346032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttagaggaggcgcgacgaCgggaggacaatctcaacgac	15	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:1346032C>T	uc001qjb.2	+	13	2690	c.2449C>T	c.(2449-2451)CGG>TGG	p.R817W	ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.R789W|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.R817W|ERC1_uc010sdv.1_Missense_Mutation_p.R569W|ERC1_uc009zdp.2_Missense_Mutation_p.R457W|ERC1_uc001qje.2_RNA	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	817	Potential.				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(2)|breast(1)	5	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGCGCGACGACGGGAGGACAA	0.458													T	1346032	C	T	1346032	3	4	158	1	0	0	0	0	1	0	0	0	5210	527	19	1	2495	1	ERC1	12	1346032	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	328104	1346032	132505863	1738	85519											
DCP1B	196513	broad.mit.edu	37	chr12	2113468	2113468	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccactcgttggcccgatggcCgaaggtgtacagagccacct	12	14	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:2113468C>A	uc001qjx.1	-	1	210	c.130G>T	c.(130-132)GGC>TGC	p.G44C	DCP1B_uc010sdy.1_5'UTR|DCP1B_uc010sdz.1_Missense_Mutation_p.G44C	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	44					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GCCCGATGGCCGAAGGTGTAC	0.687													A	2113468	C	A	2113468	3	1	158	1	0	0	0	0	1	0	0	0	4299	652	23	5	1759	5	DCP1B	12	2113468	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	767436	2113468	131738427	1739	85520											
TULP3	7289	broad.mit.edu	37	chr12	3047378	3047378	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaacagtgacactcagtcCtatgtcctcaacttccgtgg	9	12	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:3047378C>A	uc010seh.1	+	10	1203	c.1122C>A	c.(1120-1122)TCC>TCA	p.S374S	TULP3_uc009zec.1_Silent_p.S101S|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Silent_p.S374S|TULP3_uc010sei.1_Silent_p.S198S	NM_003324	NP_003315	O75386	TULP3_HUMAN	tubby like protein 3 isoform 1	374					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding				0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			ACACTCAGTCCTATGTCCTCA	0.527													A	3047378	C	A	3047378	2	1	158	1	0	0	0	0	0	0	0	1	16772	668	24	5		5	TULP3	12	3047378	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	933910	3047378	130804517	1740	85521											
C12orf5	57103	broad.mit.edu	37	chr12	4460518	4460518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtgccctgtgtttacacCgcccggaggagagacgctgg	15	11	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:4460518C>T	uc001qmp.2	+	5	435	c.356C>T	c.(355-357)CCG>CTG	p.P119L		NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	TP53-induced glycolysis and apoptosis regulator	119						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			skin(1)	1			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			GTGTTTACACCGCCCGGAGGA	0.498													T	4460518	C	T	4460518	3	4	158	1	0	0	0	0	1	0	0	0	1694	652	23	1	374	1	C12orf5	12	4460518	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1413140	4460518	129391377	1741	85522											
NDUFA9	4704	broad.mit.edu	37	chr12	4796210	4796210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtgctgcggcgtcatcGcacttaccgctggctgtctg	14	12	2	1	rs3210082		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:4796210G>A	uc001qnc.2	+	11	1080	c.1070G>A	c.(1069-1071)CGC>CAC	p.R357H	NDUFA9_uc010ses.1_Missense_Mutation_p.R138H	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	357					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	CGGCGTCATCGCACTTACCGC	0.522													A	4796210	G	A	4796210	3	1	158	1	0	0	0	0	1	0	0	0	10272	1087	38	1	1112	1	NDUFA9	12	4796210	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	335692	4796210	129055685	1742	85523											
VWF	7450	broad.mit.edu	37	chr12	6101135	6101135	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgccatcacagtgccggggAcagccatgctcacagtggtt	12	12	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:6101135A>G	uc001qnn.1	-	38	6898	c.6648T>C	c.(6646-6648)TGT>TGC	p.C2216C	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2216	E2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	AGTGCCGGGGACAGCCATGCT	0.562													G	6101135	A	G	6101135	2	3	158	1	0	0	0	0	0	0	0	1	17243	273	10	3		3	VWF	12	6101135	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1304925	6101135	127750760	1743	85524											
TAPBPL	55080	broad.mit.edu	37	chr12	6562694	6562694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgacctgtgagatctcccGctactttctccagatgacag	10	12	2	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:6562694G>A	uc001qog.3	+	3	615	c.377G>A	c.(376-378)CGC>CAC	p.R126H	LOC678655_uc001qob.2_5'Flank|LOC678655_uc001qoc.2_5'Flank|LOC678655_uc009zel.1_5'Flank|LOC678655_uc009zem.1_5'Flank|LOC678655_uc001qof.2_5'Flank|TAPBPL_uc001qoh.3_5'UTR|TAPBPL_uc001qoi.1_RNA	NM_018009	NP_060479	Q9BX59	TPSNR_HUMAN	TAP binding protein-like precursor	126	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane					0						GAGATCTCCCGCTACTTTCTC	0.577													A	6562694	G	A	6562694	3	1	158	1	0	0	0	0	1	0	0	0	15550	1087	38	1	387	1	TAPBPL	12	6562694	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	461559	6562694	127289201	1744	85525											
NCAPD2	9918	broad.mit.edu	37	chr12	6623974	6623974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtccccaagagctgagtcGagacccttcagggacaaagg	13	11	1	3	rs150197479		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:6623974G>A	uc001qoo.2	+	9	921	c.875G>A	c.(874-876)CGA>CAA	p.R292Q	NCAPD2_uc009zen.1_Missense_Mutation_p.R164Q|NCAPD2_uc010sfd.1_Missense_Mutation_p.R247Q	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	292	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						GAGCTGAGTCGAGACCCTTCA	0.473													A	6623974	G	A	6623974	3	1	158	1	0	0	0	0	1	0	0	0	10205	1058	37	1	905	1	NCAPD2	12	6623974	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	61280	6623974	127227921	1745	85526											
IFFO1	25900	broad.mit.edu	37	chr12	6650773	6650773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatgtactcgtgcaggtgCcggttcatgtcgttcttggc	12	11	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:6650773C>T	uc001qpd.1	-	8	1513	c.1479G>A	c.(1477-1479)CGG>CGA	p.R493R	IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_Silent_p.R133R|IFFO1_uc001qpb.1_Silent_p.R170R|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Silent_p.R505R|IFFO1_uc001qpf.1_Silent_p.R496R|IFFO1_uc001qoz.1_Silent_p.R134R|IFFO1_uc001qpc.1_Silent_p.R497R|IFFO1_uc001qpg.2_Silent_p.R134R	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan isoform 2	493	Potential.					intermediate filament					0						CGTGCAGGTGCCGGTTCATGT	0.642													T	6650773	C	T	6650773	2	4	158	1	0	0	0	0	0	0	0	1	7510	726	26	2		2	IFFO1	12	6650773	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	26799	6650773	127201122	1746	85527											
C12orf53	196500	broad.mit.edu	37	chr12	6806668	6806668	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccccacacgatagcccagGggtattgggatgagggcggc	16	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:6806668G>T	uc001qqf.1	-	3	384	c.308C>A	c.(307-309)CCC>CAC	p.P103H	C12orf53_uc001qqg.1_Missense_Mutation_p.P103H	NM_153685	NP_710152	Q8IYJ0	CL053_HUMAN	hypothetical protein LOC196500 precursor	103	Extracellular (Potential).					integral to membrane					0						GATAGCCCAGGGGTATTGGGA	0.622													T	6806668	G	T	6806668	3	4	158	1	0	0	0	0	1	0	0	0	1698	1232	43	5	556	5	C12orf53	12	6806668	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	155895	6806668	127045227	1747	85528											
USP5	8078	broad.mit.edu	37	chr12	6970249	6970249	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgcagctgcctgtgcccAtggatgcagcccttaacaaa	9	13	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:6970249A>G	uc001qri.3	+	12	1536	c.1477A>G	c.(1477-1479)ATG>GTG	p.M493V	USP5_uc001qrh.3_Missense_Mutation_p.M493V	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	493					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4						GCCTGTGCCCATGGATGCAGC	0.562													G	6970249	A	G	6970249	3	3	158	1	0	0	0	0	1	0	0	0	17078	217	8	3	1523	3	USP5	12	6970249	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	163581	6970249	126881646	1748	85529											
C1S	716	broad.mit.edu	37	chr12	7177347	7177347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagggagccaacaatgtatGttgggtccacctcagtgcag	12	10	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:7177347G>A	uc001qsj.2	+	15	2178	c.1459G>A	c.(1459-1461)GTT>ATT	p.V487I	C1S_uc001qsk.2_Missense_Mutation_p.V487I|C1S_uc001qsl.2_Missense_Mutation_p.V487I|C1S_uc009zfr.2_Missense_Mutation_p.V320I|C1S_uc009zfs.2_RNA	NM_201442	NP_958850	P09871	C1S_HUMAN	complement component 1, s subcomponent	487	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			skin(1)	1					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AACAATGTATGTTGGGTCCAC	0.532													A	7177347	G	A	7177347	3	1	158	1	0	0	0	0	1	0	0	0	1974	1377	48	4	1501	4	C1S	12	7177347	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	207098	7177347	126674548	1749	85530											
C1RL	51279	broad.mit.edu	37	chr12	7249743	7249743	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgattctgggcaatgggggtGactggccgtccgcagactgg	17	9	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:7249743G>A	uc001qsn.2	-	6	725	c.708C>T	c.(706-708)GTC>GTT	p.V236V	C1RL_uc009zft.2_Missense_Mutation_p.S252L	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	236					complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			pancreas(1)	1						CAATGGGGGTGACTGGCCGTC	0.602													A	7249743	G	A	7249743	2	1	158	1	0	0	0	0	0	0	0	1	1973	1277	45	4		4	C1RL	12	7249743	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	72396	7249743	126602152	1750	85531											
DPPA3	359787	broad.mit.edu	37	chr12	7867867	7867867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatctgtttcccctctatcGgaagctttactccgtcgaga	8	12	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:7867867G>A	uc001qtf.2	+	2	249	c.171G>A	c.(169-171)TCG>TCA	p.S57S		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	stella	57				S -> L (in Ref. 2; AAO39708 and 3; AAH62480/AAI25146).		cytoplasm|nucleus					0				Kidney(36;0.0887)		CCCCTCTATCGGAAGCTTTAC	0.478													A	7867867	G	A	7867867	2	1	158	1	0	0	0	0	0	0	0	1	4735	1103	39	1		1	DPPA3	12	7867867	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	618124	7867867	125984028	1751	85532											
C3AR1	719	broad.mit.edu	37	chr12	8212678	8212678	+	Frame_Shift_Del	DEL	A	A	-													cattgcctggcaatcccagtAaaaaagtaaggctgagaatg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:8212677_8212677TA>T	uc001qtv.1	-	1	197	c.105_105TA>A	c.(103-105)ttafs	p.L35fs	C3AR1_uc021quj.1_Frame_Shift_Del_p.L35fs	NM_004054	NP_004045	Q16581	C3AR_HUMAN	Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.	35					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GCAATCCCAGTAAAAAAGTAA	0.527													-	8212678	A	-	8212678	7	5	158	1	0	1	0	1	0	0	0	0	2205	372	13	0	1348	0	C3AR1	12	8212678	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	344811	8212678	125639217	1752	85533											
C3AR1	719	broad.mit.edu	37	chr12	8212777	8212777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctcagcagagaaagacGccattgctaaacttctgcaa	9	10	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:8212777G>A	uc001qtv.1	-	2	97	c.5C>T	c.(4-6)GCG>GTG	p.A2V		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	2	Extracellular (Potential).				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)	1				Kidney(36;0.0893)		AGAGAAAGACGCCATTGCTAA	0.368													A	8212777	G	A	8212777	3	1	158	1	0	0	0	0	1	0	0	0	2205	1087	38	1	1447	1	C3AR1	12	8212777	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	99	8212777	125639118	1753	85534											
A2M	2	broad.mit.edu	37	chr12	9223124	9223124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggaatgaagccagagaccAtcttcacatcaacgatcgcc	10	12	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:9223124A>G	uc001qvk.1	-	32	4267	c.4154T>C	c.(4153-4155)ATG>ACG	p.M1385T	A2M_uc001qvj.1_Missense_Mutation_p.M427T|A2M_uc009zgk.1_Missense_Mutation_p.M1235T	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1385					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	GCCAGAGACCATCTTCACATC	0.448													G	9223124	A	G	9223124	3	3	158	1	0	0	0	0	1	0	0	0	4	217	8	3	290	3	A2M	12	9223124	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1010347	9223124	124628771	1754	85535											
CLEC12A	160364	broad.mit.edu	37	chr12	10131960	10131961	+	Frame_Shift_Ins	INS	-	-	A													taactttgaagatagaaatgINSaaaaaaatgaacaaactaca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:10131960_10131961insA	uc001qwr.3	+	3	404_405	c.216_217insA	c.(214-219)ATGAAAfs	p.M72fs	CLEC12A_uc001qwq.2_Frame_Shift_Ins_p.M82fs|CLEC12A_uc001qws.3_Frame_Shift_Ins_p.M39fs|CLEC12A_uc001qwt.2_Frame_Shift_Ins_p.M1fs	NM_138337	NP_612210	Q5QGZ9	CL12A_HUMAN	myeloid inhibitory C-type lectin-like receptor	72_73	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity|sugar binding			skin(1)	1						AGATAGAAATGAAAAAAATGAA	0.317													A	10131961	-	A	10131960	7	5	158	1	0	1	1	0	0	0	0	0	3497	1290	45	0	226	0	CLEC12A	12	10131960	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	908836	10131960	123719935	1755	85536											
PRB1	5542	broad.mit.edu	37	chr12	11506748	11506748	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgggggtggtccttgtgGttttcctggaggagatcggg	19	5	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:11506748G>C	uc001qzw.1	-	3	326	c.289C>G	c.(289-291)CCA>GCA	p.P97A	PRB1_uc001qzu.1_Missense_Mutation_p.P97A|PRB1_uc001qzv.1_Missense_Mutation_p.P97A	NM_005039	NP_005030	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1 isoform 1	158	6.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).			extracellular region					0			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGTCCTTGTGGTTTTCCTGGA	0.607													C	11506748	G	C	11506748	3	2	158	1	0	0	0	0	1	0	0	0	12442	1261	44	5	710	5	PRB1	12	11506748	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1374788	11506748	122345147	1756	85537											
PRB2	653247	broad.mit.edu	37	chr12	11546660	11546660	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgggggtggtccttgtgGctttcctggaggagatcggg	19	6	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:11546660G>C	uc010shk.1	-	3	387	c.352C>G	c.(352-354)CCA>GCA	p.P118A		NM_006248	NP_006239			proline-rich protein BstNI subfamily 2												0		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGTCCTTGTGGCTTTCCTGGA	0.597													C	11546660	G	C	11546660	3	2	158	1	0	0	0	0	1	0	0	0	12443	1203	42	5	902	5	PRB2	12	11546660	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	39912	11546660	122305235	1757	85538											
ATF7IP	55729	broad.mit.edu	37	chr12	14650664	14650664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcccccagaagctgccaGcacatctctgcctcagaagc	8	17	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:14650664G>A	uc001rbw.2	+	15	3628	c.3470G>A	c.(3469-3471)AGC>AAC	p.S1157N	ATF7IP_uc001rbx.2_Missense_Mutation_p.S1156N|ATF7IP_uc001rby.3_Missense_Mutation_p.S1157N|ATF7IP_uc001rca.2_Missense_Mutation_p.S1157N	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	1157	Interaction with MBD1.|Fibronectin type-III.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						GAAGCTGCCAGCACATCTCTG	0.557													A	14650664	G	A	14650664	3	1	158	1	0	0	0	0	1	0	0	0	1087	971	34	2	3524	2	ATF7IP	12	14650664	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3104004	14650664	119201231	1758	85539											
GUCY2C	2984	broad.mit.edu	37	chr12	14809483	14809483	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtctcattggtctccagaGgaaagatattttcaggagga	12	6	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:14809483G>T	uc001rcd.2	-	12	1570	c.1433C>A	c.(1432-1434)CCT>CAT	p.P478H		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	478	Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6						GGTCTCCAGAGGAAAGATATT	0.373													T	14809483	G	T	14809483	3	4	158	1	0	0	0	0	1	0	0	0	6896	1000	35	5	1852	5	GUCY2C	12	14809483	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	158819	14809483	119042412	1759	85540											
MGST1	4257	broad.mit.edu	37	chr12	16516816	16516816	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtcccgacccctctacagcCatcctgcacttcagactatt	6	17	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:16516816C>A	uc001rdf.2	+	4	374	c.309C>A	c.(307-309)GCC>GCA	p.A103A	MGST1_uc001rdg.2_Silent_p.A103A|MGST1_uc009zih.1_Intron|MGST1_uc001rdh.2_Silent_p.A103A|MGST1_uc001rdi.2_Silent_p.A103A	NM_145792	NP_665735	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	103	Helical; (By similarity).				protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity				0		Hepatocellular(102;0.121)			Glutathione(DB00143)	CCTCTACAGCCATCCTGCACT	0.458													A	16516816	C	A	16516816	2	1	158	1	0	0	0	0	0	0	0	1	9560	581	21	5		5	MGST1	12	16516816	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1707333	16516816	117335079	1760	85541											
PIK3C2G	5288	broad.mit.edu	37	chr12	18491390	18491390	+	Frame_Shift_Del	DEL	A	A	-													ataatattattgaagaagttAaaaaaatatgcagtgttcta							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:18491389_18491389TA>T	uc001rdt.3	+	8	1418	c.1302_1302TA>T	c.(1300-1302)gttfs	p.V434fs	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Frame_Shift_Del_p.V434fs|PIK3C2G_uc010sic.2_Frame_Shift_Del_p.V212fs	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	434					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTGAAGAAGTTAAAAAAATAT	0.308													-	18491390	A	-	18491390	7	5	158	1	0	1	0	1	0	0	0	0	11911	363	13	0	1333	0	PIK3C2G	12	18491390	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	1974574	18491390	115360505	1761	85542											
PDE3A	5139	broad.mit.edu	37	chr12	20799536	20799536	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggttcaaccagtgattcAggtatgtacgaagtgaatct	10	7	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:20799536A>G	uc001reh.1	+	11	2386	c.2364A>G	c.(2362-2364)TCA>TCG	p.S788S		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	788	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCAGTGATTCAGGTATGTACG	0.373													G	20799536	A	G	20799536	2	3	158	1	0	0	0	0	0	0	0	1	11637	202	7	3		3	PDE3A	12	20799536	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	2308146	20799536	113052359	1762	85543											
RASSF8	11228	broad.mit.edu	37	chr12	26217573	26217573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctacgacgaactgggccGtctctcagtgagcgacccac	10	14	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:26217573G>A	uc001rgx.2	+	3	467	c.246G>A	c.(244-246)CCG>CCA	p.P82P	RASSF8_uc001rgy.2_Silent_p.P82P|RASSF8_uc001rgz.2_Silent_p.P82P|RASSF8_uc009zjd.1_Silent_p.P82P|RASSF8_uc009zje.1_Silent_p.P82P	NM_007211	NP_009142	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family	82	Ras-associating.				signal transduction						0	Colorectal(261;0.0847)					GAACTGGGCCGTCTCTCAGTG	0.483													A	26217573	G	A	26217573	2	1	158	1	0	0	0	0	0	0	0	1	13092	1132	40	1		1	RASSF8	12	26217573	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	5418037	26217573	107634322	1763	85544											
CCDC91	55297	broad.mit.edu	37	chr12	28603172	28603172	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggaagctttgattcagcaaTctcaagaacagaaggtaata	9	6	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:28603172T>A	uc001riq.2	+	8	857	c.841T>A	c.(841-843)TCT>ACT	p.S281T	CCDC91_uc001rio.2_Missense_Mutation_p.S251T|CCDC91_uc009zjk.2_RNA|CCDC91_uc001rip.1_Missense_Mutation_p.S281T|CCDC91_uc001rir.2_Missense_Mutation_p.S119T|CCDC91_uc009zjl.2_Missense_Mutation_p.S83T	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN	GGA binding partner	281	Potential.|Homodimerization.				protein transport	Golgi apparatus|membrane				central_nervous_system(1)	1	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GATTCAGCAATCTCAAGAACA	0.333													A	28603172	T	A	28603172	3	1	158	1	0	0	0	0	1	0	0	0	2870	1435	50	5	871	5	CCDC91	12	28603172	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	2385599	28603172	105248723	1764	85545											
FAR2	55711	broad.mit.edu	37	chr12	29460683	29460683	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caccaaggccttgggagaaaTggtggtgcagcaagagagca	15	8	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:29460683T>G	uc001ris.3	+	5	785	c.638T>G	c.(637-639)ATG>AGG	p.M213R	FAR2_uc001rit.2_Missense_Mutation_p.M213R|FAR2_uc009zjm.2_Missense_Mutation_p.M116R|uc001riu.1_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	213					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0						TTGGGAGAAATGGTGGTGCAG	0.488													G	29460683	T	G	29460683	3	3	158	1	0	0	0	0	1	0	0	0	5675	1464	51	5	652	5	FAR2	12	29460683	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	857511	29460683	104391212	1765	85546											
DDX11	1663	broad.mit.edu	37	chr12	31250897	31250897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagtggtgaaggaatgccGggcagtggtcattgcggggg	19	7	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:31250897G>A	uc001rjt.1	+	18	2092	c.1841G>A	c.(1840-1842)CGG>CAG	p.R614Q	DDX11_uc001rjr.1_Missense_Mutation_p.R614Q|DDX11_uc001rjs.1_Missense_Mutation_p.R614Q|DDX11_uc001rju.1_Missense_Mutation_p.R292Q|DDX11_uc001rjv.1_Missense_Mutation_p.R614Q|DDX11_uc001rjw.1_Missense_Mutation_p.R588Q|DDX11_uc009zjn.1_RNA	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	614					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AAGGAATGCCGGGCAGTGGTC	0.582										Multiple Myeloma(12;0.14)			A	31250897	G	A	31250897	3	1	158	1	0	0	0	0	1	0	0	0	4343	1116	39	1	1907	1	DDX11	12	31250897	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1790214	31250897	102600998	1766	85547											
H3F3C	440093	broad.mit.edu	37	chr12	31944762	31944762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatggtgactctcttagcGtggatggcacacaggttagt	13	7	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:31944762G>A	uc001rkr.2	-	1	414	c.339C>T	c.(337-339)CAC>CAT	p.H113H		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	histone H3-like	113					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CTCTCTTAGCGTGGATGGCAC	0.537										HNSCC(67;0.2)			A	31944762	G	A	31944762	2	1	158	1	0	0	0	0	0	0	0	1	6935	1136	40	1		1	H3F3C	12	31944762	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	693865	31944762	101907133	1767	85548											
FGD4	121512	broad.mit.edu	37	chr12	32755213	32755213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttaaaaacatgacagaaCgtattccccagttcaaatca	6	9	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:32755213C>T	uc001rkz.2	+	7	1432	c.955C>T	c.(955-957)CGT>TGT	p.R319C	FGD4_uc001rlc.2_Missense_Mutation_p.R404C|FGD4_uc001rky.2_Missense_Mutation_p.R71C|FGD4_uc001rla.2_Translation_Start_Site|FGD4_uc010ske.1_Missense_Mutation_p.R431C|FGD4_uc001rlb.1_RNA	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	319	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CATGACAGAACGTATTCCCCA	0.343													T	32755213	C	T	32755213	3	4	158	1	0	0	0	0	1	0	0	0	5835	536	19	1	973	1	FGD4	12	32755213	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	810451	32755213	101096682	1768	85549											
ALG10B	144245	broad.mit.edu	37	chr12	38714328	38714328	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttattccatgtcctttaaAaacttgagtatgcttttctg	6	8	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:38714328A>C	uc001rln.3	+	3	874	c.735A>C	c.(733-735)AAA>AAC	p.K245N	ALG10B_uc001rlo.3_Missense_Mutation_p.K215N|ALG10B_uc010skk.1_Missense_Mutation_p.K185N	NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	asparagine-linked glycosylation 10 homolog B	245	Cytoplasmic (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			ovary(2)|skin(1)	3	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TGTCCTTTAAAAACTTGAGTA	0.368													C	38714328	A	C	38714328	3	2	158	1	0	0	0	0	1	0	0	0	512	11	1	5	745	5	ALG10B	12	38714328	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	5959115	38714328	95137567	1769	85550											
LRRK2	120892	broad.mit.edu	37	chr12	40758800	40758800	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaactcgtcgacttatacgTgtaatttacaacttttgtaa	5	8	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:40758800T>C	uc001rmg.3	+	49	7459	c.7338T>C	c.(7336-7338)CGT>CGC	p.R2446R	LRRK2_uc009zjw.2_Silent_p.R1284R|LRRK2_uc001rmi.2_Silent_p.R1279R	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2446					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GACTTATACGTGTAATTTACA	0.388													C	40758800	T	C	40758800	2	2	158	1	0	0	0	0	0	0	0	1	9033	1683	59	3		3	LRRK2	12	40758800	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	2044472	40758800	93093095	1770	85551											
GXYLT1	283464	broad.mit.edu	37	chr12	42499816	42499817	+	Frame_Shift_Ins	INS	-	-	A													aatatcatcaactggtcgtaINSaaaaaaggatatcagtgtcg					rs78939583		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:42499815_42499816T>TA	uc001rms.4	-	4	893_894	c.668_669A>TA	c.(667-669)ttafs	p.L223fs	GXYLT1_uc001rmt.4_Frame_Shift_Ins_p.L192fs	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	223					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CAACTGGTCGTAAAAAAAGGAT	0.327													A	42499817	-	A	42499816	7	5	158	1	0	1	1	0	0	0	0	0	6903	372	13	0	670	0	GXYLT1	12	42499816	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	1741016	42499816	91352079	1771	85552											
ARID2	196528	broad.mit.edu	37	chr12	46230387	46230387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagttttggaaagacatcGttgatgataatgaagttcgt	10	4	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:46230387G>A	uc001ros.1	+	7	721	c.721G>A	c.(721-723)GTT>ATT	p.V241I	ARID2_uc001ror.2_Missense_Mutation_p.V241I|ARID2_uc009zkg.1_5'Flank|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'Flank	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	241					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GAAAGACATCGTTGATGATAA	0.274													A	46230387	G	A	46230387	3	1	158	1	0	0	0	0	1	0	0	0	915	1145	40	1	747	1	ARID2	12	46230387	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3730571	46230387	87621508	1772	85553											
ARID2	196528	broad.mit.edu	37	chr12	46240687	46240687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctccacctccaggaatagTggaaatagatagtgagaagt	11	7	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:46240687T>C	uc001ros.1	+	12	1547	c.1547T>C	c.(1546-1548)GTG>GCG	p.V516A	ARID2_uc001ror.2_Missense_Mutation_p.V516A|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Missense_Mutation_p.V143A	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	516					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCAGGAATAGTGGAAATAGAT	0.358													C	46240687	T	C	46240687	3	2	158	1	0	0	0	0	1	0	0	0	915	1696	59	3	1593	3	ARID2	12	46240687	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	10300	46240687	87611208	1773	85554											
SLC38A4	55089	broad.mit.edu	37	chr12	47173760	47173760	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcaagtcccatgaatgCtctgattacttcaggtagtt	7	9	4	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:47173760C>A	uc001rpi.2	-	8	946	c.547G>T	c.(547-549)GCA>TCA	p.A183S	SLC38A4_uc001rpj.2_Missense_Mutation_p.A183S|SLC38A4_uc009zkl.2_Missense_Mutation_p.A183S	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	183	Extracellular (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Lung SC(27;0.192)|Renal(347;0.236)					CCCATGAATGCTCTGATTACT	0.373													A	47173760	C	A	47173760	3	1	158	1	0	0	0	0	1	0	0	0	14606	797	28	5	1136	5	SLC38A4	12	47173760	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	933073	47173760	86678135	1774	85555											
COL2A1	1280	broad.mit.edu	37	chr12	48369230	48369230	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtggcatccacctcggcGtcatgctgtctcaggccacc	11	15	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:48369230G>A	uc001rqu.2	-	51	3937	c.3756C>T	c.(3754-3756)GAC>GAT	p.D1252D	COL2A1_uc001rqt.2_Silent_p.D33D|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.D1183D	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1252					axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCACCTCGGCGTCATGCTGTC	0.647													A	48369230	G	A	48369230	2	1	158	1	0	0	0	0	0	0	0	1	3687	1136	40	1		1	COL2A1	12	48369230	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1195470	48369230	85482665	1775	85556											
COL2A1	1280	broad.mit.edu	37	chr12	48372127	48372127	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accacgttgcccaggcagacCgacgatgcctctctgaccag	10	16	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:48372127C>A	uc001rqu.2	-	43	3131	c.2950G>T	c.(2950-2952)GGT>TGT	p.G984C	COL2A1_uc001rqt.2_5'Flank|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.G915C	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	984	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCAGGCAGACCGACGATGCCT	0.647													A	48372127	C	A	48372127	3	1	158	1	0	0	0	0	1	0	0	0	3687	652	23	5	1561	5	COL2A1	12	48372127	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2897	48372127	85479768	1776	85557											
SENP1	29843	broad.mit.edu	37	chr12	48442868	48442868	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcatgcacacttggcaagccCttctctttacttcgctccat	6	15	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:48442868C>A	uc001rqx.2	-	14	1901	c.1455G>T	c.(1453-1455)AAG>AAT	p.K485N	SENP1_uc001rqw.2_Missense_Mutation_p.K485N|SENP1_uc001rqy.2_Missense_Mutation_p.K286N|SENP1_uc001rqz.2_Missense_Mutation_p.K286N|SENP1_uc009zkx.2_Missense_Mutation_p.K485N	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	sentrin/SUMO-specific protease 1	485	Protease.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			pancreas(2)|lung(1)	3		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TTGGCAAGCCCTTCTCTTTAC	0.383													A	48442868	C	A	48442868	3	1	158	1	0	0	0	0	1	0	0	0	14046	680	24	5	496	5	SENP1	12	48442868	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	70741	48442868	85409027	1777	85558											
ADCY6	112	broad.mit.edu	37	chr12	49170308	49170308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaggacgccgcagtgcaCgcgcccgctgtggatgccca	14	16	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:49170308C>T	uc001rsh.3	-	6	2098	c.1438G>A	c.(1438-1440)GTG>ATG	p.V480M	ADCY6_uc001rsj.3_Missense_Mutation_p.V480M|ADCY6_uc001rsi.3_Missense_Mutation_p.V480M|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	480	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0						CCGCAGTGCACGCGCCCGCTG	0.622													T	49170308	C	T	49170308	3	4	158	1	0	0	0	0	1	0	0	0	298	536	19	1	2132	1	ADCY6	12	49170308	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	727440	49170308	84681587	1778	85559											
ADCY6	112	broad.mit.edu	37	chr12	49171486	49171486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttcatctccatggcaaCgtgctggggcaataccgaca	9	12	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:49171486C>T	uc001rsh.3	-	3	1708	c.1048G>A	c.(1048-1050)GTT>ATT	p.V350I	ADCY6_uc001rsj.3_Missense_Mutation_p.V350I|ADCY6_uc001rsi.3_Missense_Mutation_p.V350I|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	350	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0						TCCATGGCAACGTGCTGGGGC	0.488													T	49171486	C	T	49171486	3	4	158	1	0	0	0	0	1	0	0	0	298	536	19	1	2534	1	ADCY6	12	49171486	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1178	49171486	84680409	1779	85560											
FKBP11	51303	broad.mit.edu	37	chr12	49319210	49319210	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgaggggcgcagggtcAtgactgggcgcggggcaggg	24	7	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:49319210A>C	uc001rsp.2	-	1	121	c.2T>G	c.(1-3)ATG>AGG	p.M1R	FKBP11_uc010sma.1_5'Flank|FKBP11_uc001rsq.3_Missense_Mutation_p.M1R|FKBP11_uc010smb.1_Missense_Mutation_p.M1R	NM_016594	NP_057678	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11 isoform 1 precursor	1					protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						GCGCAGGGTCATGACTGGGCG	0.657													C	49319210	A	C	49319210	3	2	158	1	0	0	0	0	1	0	0	0	5903	217	8	5	684	5	FKBP11	12	49319210	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	147724	49319210	84532685	1780	85561											
DDN	23109	broad.mit.edu	37	chr12	49391774	49391774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccacagcctggggatccCcccaagagaccttgcccctg	10	18	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:49391774C>T	uc001rsv.1	-	2	903	c.885G>A	c.(883-885)GGG>GGA	p.G295G	uc001rsw.2_5'Flank	NM_015086	NP_055901	O94850	DEND_HUMAN	dendrin	295						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				large_intestine(1)	1						CTGGGGATCCCCCCAAGAGAC	0.657													T	49391774	C	T	49391774	2	4	158	1	0	0	0	0	0	0	0	1	4333	610	22	4		4	DDN	12	49391774	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	72564	49391774	84460121	1781	85562											
MLL2	8085	broad.mit.edu	37	chr12	49426526	49426526	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgctgctgctgttgttgctGaggagacagtaaagttcgac	13	7	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:49426526G>A	uc001rta.3	-	39	11962	c.11962C>T	c.(11962-11964)CAG>TAG	p.Q3988*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	3988	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TGTTGTTGCTGAGGAGACAGT	0.378			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49426526	G	A	49426526	4	1	158	1	0	0	0	0	0	1	0	0	9621	1299	45	4	4715	4	MLL2	12	49426526	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	34752	49426526	84425369	1782	85563											
MLL2	8085	broad.mit.edu	37	chr12	49434350	49434350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagggtcggagggcagtgaGcgagggggcagagcacagca	20	7	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:49434350G>A	uc001rta.3	-	31	7203	c.7203C>T	c.(7201-7203)CGC>CGT	p.R2401R		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2401	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGGGCAGTGAGCGAGGGGGCA	0.642			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49434350	G	A	49434350	2	1	158	1	0	0	0	0	0	0	0	1	9621	958	34	2		2	MLL2	12	49434350	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	7824	49434350	84417545	1783	85564											
MLL2	8085	broad.mit.edu	37	chr12	49435199	49435200	+	Frame_Shift_Ins	INS	-	-	G													aaatggtgggggcagcagcgINSgggggcgggctgcccagtgc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:49435198_49435199C>CG	uc001rta.4	-	30	6354_6355	c.6354_6355G>CG	c.(6352-6357)cccgctfs	p.P2118fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2118	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.A2119fs*36(1)|p.A1849fs*36(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGGGCAGCAGCGGGGGGCGGGC	0.688			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			G	49435200	-	G	49435199	7	5	158	1	0	1	1	0	0	0	0	0	9621	1103	39	0	10355	0	MLL2	12	49435199	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	849	49435199	84416696	1784	85565											
RHEBL1	121268	broad.mit.edu	37	chr12	49460477	49460477	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaatagggcagaatgctgTactcatcctggcaagaaatg	11	7	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:49460477T>C	uc001rtc.1	-	4	407	c.200A>G	c.(199-201)TAC>TGC	p.Y67C	RHEBL1_uc001rtd.1_Missense_Mutation_p.Y63C|RHEBL1_uc009zlc.1_RNA	NM_144593	NP_653194	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1 precursor	67					positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding			lung(1)|breast(1)	2						CAGAATGCTGTACTCATCCTG	0.488													C	49460477	T	C	49460477	3	2	158	1	0	0	0	0	1	0	0	0	13329	1638	57	3	371	3	RHEBL1	12	49460477	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	25278	49460477	84391418	1785	85566											
KCNH3	23416	broad.mit.edu	37	chr12	49937285	49937285	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctgtgacctggccgtggaGgtcctcttcatccttggtgc	13	12	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:49937285G>T	uc001ruh.1	+	5	1067	c.807G>T	c.(805-807)GAG>GAT	p.E269D	KCNH3_uc010smj.1_Missense_Mutation_p.E209D	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	269	Helical; Name=Segment S2; (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						TGGCCGTGGAGGTCCTCTTCA	0.667													T	49937285	G	T	49937285	3	4	158	1	0	0	0	0	1	0	0	0	8033	991	35	5	825	5	KCNH3	12	49937285	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	476808	49937285	83914610	1786	85567											
FAM186B	84070	broad.mit.edu	37	chr12	49981443	49981443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtcccctcagctggtccCggggaaggctggcaggggtc	18	12	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:49981443C>T	uc001ruo.2	-	7	2800	c.2627G>A	c.(2626-2628)CGG>CAG	p.R876Q	FAM186B_uc010smk.1_Intron	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	hypothetical protein LOC84070	876						protein complex				ovary(1)	1						CAGCTGGTCCCGGGGAAGGCT	0.577													T	49981443	C	T	49981443	3	4	158	1	0	0	0	0	1	0	0	0	5512	652	23	1	58	1	FAM186B	12	49981443	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	44158	49981443	83870452	1787	85568											
METTL7A	25840	broad.mit.edu	37	chr12	51323923	51323923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcatatctatggatatgCtgtgaaatagtgtgagctgg	11	7	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:51323923C>T	uc001rxb.2	+	2	1013	c.725C>T	c.(724-726)GCT>GTT	p.A242V	METTL7A_uc010smv.1_3'UTR	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN	methyltransferase like 7A precursor	242						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity				0						TATGGATATGCTGTGAAATAG	0.478													T	51323923	C	T	51323923	3	4	158	1	0	0	0	0	1	0	0	0	9505	797	28	2	731	2	METTL7A	12	51323923	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1342480	51323923	82527972	1788	85569											
TFCP2	7024	broad.mit.edu	37	chr12	51493509	51493509	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgttgttgctgctccCtcaactgcagtgattcctga	10	12	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:51493509C>A	uc001rxw.2	-	12	1664	c.1205G>T	c.(1204-1206)AGG>ATG	p.R402M	TFCP2_uc001rxv.1_Missense_Mutation_p.R402M|TFCP2_uc009zlx.1_Missense_Mutation_p.R351M|TFCP2_uc001rxx.2_Missense_Mutation_p.R324M|TFCP2_uc009zly.1_Missense_Mutation_p.R304M	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	transcription factor CP2	402	Gln-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						ttgctgctCCCTCAACTGCAG	0.353													A	51493509	C	A	51493509	3	1	158	1	0	0	0	0	1	0	0	0	15792	681	24	5	319	5	TFCP2	12	51493509	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	169586	51493509	82358386	1789	85570											
GALNT6	11226	broad.mit.edu	37	chr12	51753071	51753071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccggaacacatggcctaCgacagagcaggggatgatct	14	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:51753071C>T	uc001ryk.2	-	7	1438	c.1213G>A	c.(1213-1215)GTA>ATA	p.V405I	GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.V405I|GALNT6_uc001ryj.1_5'UTR	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	405	Catalytic subdomain B.|Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						ACATGGCCTACGACAGAGCAG	0.592													T	51753071	C	T	51753071	3	4	158	1	0	0	0	0	1	0	0	0	6217	536	19	1	675	1	GALNT6	12	51753071	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	259562	51753071	82098824	1790	85571											
ACVR1B	91	broad.mit.edu	37	chr12	52385715	52385715	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccttccattgaggaaatgCgaaaggttgtatgtgatcag	11	7	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:52385715C>T	uc001rzn.2	+	8	1372	c.1330C>T	c.(1330-1332)CGA>TGA	p.R444*	ACVR1B_uc001rzm.2_Nonsense_Mutation_p.R444*|ACVR1B_uc010snn.1_Nonsense_Mutation_p.R485*	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	444	Protein kinase.|Cytoplasmic (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	p.R485*(1)		pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TGAGGAAATGCGAAAGGTTGT	0.488													T	52385715	C	T	52385715	4	4	158	1	0	0	0	0	0	1	0	0	221	760	27	1	1487	1	ACVR1B	12	52385715	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	632644	52385715	81466180	1791	85572											
KRT85	3891	broad.mit.edu	37	chr12	52757866	52757866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttacctcttcatagaggcGcctcaggaagctagactcct	8	14	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:52757866G>A	uc001sag.2	-	4	892	c.772C>T	c.(772-774)CGC>TGC	p.R258C		NM_002283	NP_002274	P78386	KRT85_HUMAN	keratin 85	258	Rod.|Coil 1B.				epidermis development	keratin filament	protein binding|structural molecule activity			ovary(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCATAGAGGCGCCTCAGGAAG	0.612													A	52757866	G	A	52757866	3	1	158	1	0	0	0	0	1	0	0	0	8499	1087	38	1	775	1	KRT85	12	52757866	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	372151	52757866	81094029	1792	85573											
KRT74	121391	broad.mit.edu	37	chr12	52962154	52962154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctcagcgtcagcgatgGccgtctccaggctggcacgc	14	15	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:52962154G>A	uc001sap.1	-	7	1202	c.1154C>T	c.(1153-1155)GCC>GTC	p.A385V		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	keratin 6 irs4	385	Rod.|Coil 2.					keratin filament	structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.191)		GTCAGCGATGGCCGTCTCCAG	0.562													A	52962154	G	A	52962154	3	1	158	1	0	0	0	0	1	0	0	0	8487	1203	42	2	447	2	KRT74	12	52962154	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	204288	52962154	80889741	1793	85574											
KRT73	319101	broad.mit.edu	37	chr12	53012077	53012077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccagcaaagccactggCccggccccggccaaatccat	10	18	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:53012077C>T	uc001sas.2	-	1	267	c.232G>A	c.(232-234)GCC>ACC	p.A78T		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	78	Head.|Gly-rich.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		AAGCCACTGGCCCGGCCCCGG	0.632													T	53012077	C	T	53012077	3	4	158	1	0	0	0	0	1	0	0	0	8486	739	26	2	1426	2	KRT73	12	53012077	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	49923	53012077	80839818	1794	85575											
KRT78	196374	broad.mit.edu	37	chr12	53242666	53242666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgagcgagcagaacaggCtgagcgagcgctgaagcccc	14	13	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:53242666C>T	uc001sbc.1	-	1	113	c.49G>A	c.(49-51)GCC>ACC	p.A17T		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	keratin 5b	17	Head.|Gly-rich.					keratin filament	protein binding|structural molecule activity			ovary(2)	2						GCAGAACAGGCTGAGCGAGCG	0.632													T	53242666	C	T	53242666	3	4	158	1	0	0	0	0	1	0	0	0	8491	797	28	2	1549	2	KRT78	12	53242666	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	230589	53242666	80609229	1795	85576											
TENC1	23371	broad.mit.edu	37	chr12	53453310	53453311	+	Frame_Shift_Ins	INS	-	-	C													ctacgggggctatgagggatINSccccccagggctacgccgag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:53453310_53453311insC	uc001sbp.2	+	18	2020_2021	c.1885_1886insC	c.(1885-1887)TCCfs	p.S629fs	TENC1_uc001sbl.2_Frame_Shift_Ins_p.S505fs|TENC1_uc001sbn.2_Frame_Shift_Ins_p.S639fs|TENC1_uc001sbq.2_Frame_Shift_Ins_p.S124fs|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Frame_Shift_Ins_p.S124fs|TENC1_uc001sbs.2_5'Flank	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	629					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2						CTATGAGGGATCCCCCCAGGGC	0.673													C	53453311	-	C	53453310	7	5	158	1	0	1	1	0	0	0	0	0	15755	1435	50	0	2064	0	TENC1	12	53453310	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	210644	53453310	80398585	1796	85577	426	2									
TENC1	23371	broad.mit.edu	37	chr12	53453311	53453312	+	Frame_Shift_Ins	INS	-	-	C													tacgggggctatgagggatcINScccccagggctacgccgagg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:53453310_53453311T>TC	uc001sbp.3	+	17	2020_2021	c.1885_1886T>TC	c.(1885-1887)tccfs	p.S629fs	TENC1_uc001sbl.3_Frame_Shift_Ins_p.S505fs|TENC1_uc001sbn.3_Frame_Shift_Ins_p.S639fs|TENC1_uc001sbq.3_Frame_Shift_Ins_p.S124fs|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_Frame_Shift_Ins_p.S124fs	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	629					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTATGAGGGATCCCCCCAGGGC	0.673													C	53453312	-	C	53453311	7	5	158	1	0	1	1	0	0	0	0	0	15755	855	30	0	2065	0	TENC1	12	53453311	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	1	53453311	80398584	1797	85578	426	2									
RARG	5916	broad.mit.edu	37	chr12	53621285	53621285	+	Frame_Shift_Del	DEL	C	C	-													cctgggtagccagatccaggCcccagggcaccagccgcaaa							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:53621284_53621284GC>G	uc001scf.3	-	2	538	c.46_46GC>C	c.(46-48)cctfs	p.P16fs	RARG_uc001scg.3_Intron|RARG_uc010soc.2_Intron|RARG_uc001sce.3_Frame_Shift_Del_p.P16fs	NM_000966	NP_001230660	P13631	RARG_HUMAN	Homo sapiens retinoic acid receptor, gamma (RARG), transcript variant 1, mRNA.	16	Modulating.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCAGATCCAGGCCCCAGGGCA	0.662													-	53621285	C	-	53621285	7	5	158	1	0	1	0	1	0	0	0	0	13054	726	26	0	1506	0	RARG	12	53621285	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	167974	53621285	80230610	1798	85579											
ESPL1	9700	broad.mit.edu	37	chr12	53677869	53677869	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttcctggtgctgaagggCgagctggagctggcccgcaa	16	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:53677869C>T	uc001sck.2	+	17	3196	c.3105C>T	c.(3103-3105)GGC>GGT	p.G1035G	ESPL1_uc001scj.2_Silent_p.G710G|ESPL1_uc010soe.1_Silent_p.G246G	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1035					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						TGCTGAAGGGCGAGCTGGAGC	0.537													T	53677869	C	T	53677869	2	4	158	1	0	0	0	0	0	0	0	1	5253	755	27	1		1	ESPL1	12	53677869	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	56584	53677869	80174026	1799	85580											
C12orf10	60314	broad.mit.edu	37	chr12	53693543	53693543	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggacaccaattcctgcgcGgcctcttaacgctgctgctg	11	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:53693543G>T	uc001scp.3	+	1	74	c.22G>T	c.(22-24)GGC>TGC	p.G8C	C12orf10_uc010sof.1_Missense_Mutation_p.G8C|C12orf10_uc009zmx.2_Missense_Mutation_p.G8C|C12orf10_uc001scq.3_5'Flank	NM_021640	NP_067653	Q86UA3	Q86UA3_HUMAN	MYG1 protein precursor	8										ovary(2)	2						ATTCCTGCGCGGCCTCTTAAC	0.667											OREG0021864	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	53693543	G	T	53693543	3	4	158	1	0	0	0	0	1	0	0	0	1674	1116	39	5	24	5	C12orf10	12	53693543	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	15674	53693543	80158352	1800	85581											
CALCOCO1	57658	broad.mit.edu	37	chr12	54115940	54115940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgcatcaggtcattccGttcttgctggctctcatcga	9	13	4	0	rs35358749	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:54115940G>A	uc001sef.2	-	5	622	c.478C>T	c.(478-480)CGG>TGG	p.R160W	CALCOCO1_uc010som.1_Missense_Mutation_p.R127W|CALCOCO1_uc010son.1_Missense_Mutation_p.R37W|CALCOCO1_uc001seh.2_Missense_Mutation_p.R160W|CALCOCO1_uc009znd.2_Missense_Mutation_p.R160W|CALCOCO1_uc001seg.2_Missense_Mutation_p.R37W|CALCOCO1_uc010soo.1_Missense_Mutation_p.R153W	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	coiled-coil transcriptional coactivator isoform	160	Potential.|N-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			ovary(1)	1						AGGTCATTCCGTTCTTGCTGG	0.587													A	54115940	G	A	54115940	3	1	158	1	0	0	0	0	1	0	0	0	2577	1144	40	1	1641	1	CALCOCO1	12	54115940	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	422397	54115940	79735955	1801	85582											
SMUG1	23583	broad.mit.edu	37	chr12	54576054	54576054	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctgctctgccagtcgcccAactcccaccaccagccgcac	7	22	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:54576054A>G	uc001sff.1	-	4	768	c.639T>C	c.(637-639)GTT>GTC	p.V213V	SMUG1_uc001sfa.1_RNA|SMUG1_uc001sfe.1_3'UTR|SMUG1_uc001sfg.1_Silent_p.V213V|SMUG1_uc009znf.1_Silent_p.V213V|SMUG1_uc001sfb.3_Intron|SMUG1_uc001sfc.3_Intron|SMUG1_uc001sfd.3_Intron	NM_014311	NP_055126	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional	213					depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity				0						CCAGTCGCCCAACTCCCACCA	0.667								BER_DNA_glycosylases					G	54576054	A	G	54576054	2	3	158	1	0	0	0	0	0	0	0	1	14818	117	5	3		3	SMUG1	12	54576054	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	460114	54576054	79275841	1802	85583											
PDE1B	5153	broad.mit.edu	37	chr12	54971060	54971061	+	Frame_Shift_Ins	INS	-	-	C													tccccctgtgaagaagaggcINSccccccatcccctgccgaag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:54971059_54971060G>GC	uc001sgd.2	+	14	1951_1952	c.1558_1559G>GC	c.(1558-1560)gccfs	p.A520fs	PDE1B_uc010soz.2_Frame_Shift_Ins_p.A383fs|PDE1B_uc010spa.1_Frame_Shift_Ins_p.A479fs|PDE1B_uc001sge.3_Frame_Shift_Ins_p.A500fs|PDE1B_uc001sgf.3_Frame_Shift_Ins_p.A383fs|PDE1B_uc009znq.3_Frame_Shift_Ins_p.A316fs	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	520					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGAAGAAGAGGCCCCCCCATCC	0.559													C	54971061	-	C	54971060	7	5	158	1	0	1	1	0	0	0	0	0	11634	739	26	0	1670	0	PDE1B	12	54971060	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	395006	54971060	78880835	1803	85584											
KIAA0748	9840	broad.mit.edu	37	chr12	55357525	55357525	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgcctgggagggacactcaCtggccagcatgaggcagggg	18	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:55357525C>A	uc001sgn.3	-	8	765	c.655_splice	c.e8+1	p.S219_splice	KIAA0748_uc001sgl.3_Splice_Site_p.S81_splice|KIAA0748_uc001sgm.3_Splice_Site|KIAA0748_uc010spb.1_Intron|KIAA0748_uc010spc.1_Splice_Site_p.S81_splice|KIAA0748_uc010spd.1_Splice_Site_p.S219_splice|KIAA0748_uc001sgo.3_Intron	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840											ovary(1)|central_nervous_system(1)	2						GGGACACTCACTGGCCAGCAT	0.522													A	55357525	C	A	55357525	5	1	158	1	0	0	0	0	0	0	1	0	8190	579	20	5	921	5	KIAA0748	12	55357525	Splice_Site	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	386465	55357525	78494370	1804	85585											
ITGA7	3679	broad.mit.edu	37	chr12	56078934	56078934	+	Frame_Shift_Del	DEL	G	G	-													tgcatccgggccctcccgccGggggctgccccagttgttcc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:56078933_56078933CG>C	uc001shh.3	-	24	3555	c.3335_3335CG>G	c.(3334-3336)cggfs	p.R1112fs	ITGA7_uc001shg.3_Frame_Shift_Del_p.R1108fs|ITGA7_uc010sps.2_Frame_Shift_Del_p.R1015fs|ITGA7_uc001shf.3_3'UTR|ITGA7_uc009znw.3_Frame_Shift_Del_p.R355fs|ITGA7_uc009znx.3_Frame_Shift_Del_p.R989fs	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	1152					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	p.P1112S(1)|p.G1111G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCCCTCCCGCCGGGGGCTGCC	0.667													-	56078934	G	-	56078934	7	5	158	1	0	1	0	1	0	0	0	0	7881	1115	39	0	95	0	ITGA7	12	56078934	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	721409	56078934	77772961	1805	85586											
ORMDL2	29095	broad.mit.edu	37	chr12	56214083	56214083	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tataccaagtatgatgctgcGcacttcctcatcaacacagc	6	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:56214083G>A	uc001shw.1	+	4	458	c.366G>A	c.(364-366)GCG>GCA	p.A122A	SARNP_uc009zoa.2_5'Flank|SARNP_uc001shs.3_5'Flank|SARNP_uc001sht.2_5'Flank|DNAJC14_uc001shu.1_Intron|SARNP_uc001shv.3_5'Flank	NM_014182	NP_054901	Q53FV1	ORML2_HUMAN	ORMDL2	122					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane					0						ATGATGCTGCGCACTTCCTCA	0.458													A	56214083	G	A	56214083	2	1	158	1	0	0	0	0	0	0	0	1	11270	1074	38	1		1	ORMDL2	12	56214083	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	135149	56214083	77637812	1806	85587											
SUOX	6821	broad.mit.edu	37	chr12	56398444	56398444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatccattcaggaacttcCtgtccagtcggccatcacag	7	15	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:56398444C>T	uc001six.2	+	6	1597	c.1271C>T	c.(1270-1272)CCT>CTT	p.P424L	SUOX_uc001siy.2_Missense_Mutation_p.P424L|SUOX_uc001siz.2_Missense_Mutation_p.P424L|SUOX_uc001sja.2_Missense_Mutation_p.P424L	NM_000456	NP_000447	P51687	SUOX_HUMAN	sulfite oxidase precursor	424	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CAGGAACTTCCTGTCCAGTCG	0.552													T	56398444	C	T	56398444	3	4	158	1	0	0	0	0	1	0	0	0	15392	681	24	4	1281	4	SUOX	12	56398444	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	184361	56398444	77453451	1807	85588											
ESYT1	23344	broad.mit.edu	37	chr12	56524639	56524639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctggctgaaactgtggCtccggctgttaggggatcta	14	9	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:56524639C>T	uc001sjq.2	+	3	547	c.497C>T	c.(496-498)GCT>GTT	p.A166V	ESYT1_uc001sjr.2_Missense_Mutation_p.A166V	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	166						integral to membrane				ovary(4)|skin(1)	5						GAAACTGTGGCTCCGGCTGTT	0.527													T	56524639	C	T	56524639	3	4	158	1	0	0	0	0	1	0	0	0	5264	797	28	2	507	2	ESYT1	12	56524639	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	126195	56524639	77327256	1808	85589											
STAT2	6773	broad.mit.edu	37	chr12	56749256	56749256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccttaaatccaggatccGggattcaatctcatgttgct	8	11	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:56749256G>A	uc001slc.2	-	5	520	c.442C>T	c.(442-444)CGG>TGG	p.R148W	STAT2_uc001sld.2_Missense_Mutation_p.R144W|STAT2_uc010sqn.1_Missense_Mutation_p.R144W	NM_005419	NP_005410	P52630	STAT2_HUMAN	signal transducer and activator of transcription	148					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						TCCAGGATCCGGGATTCAATC	0.498													A	56749256	G	A	56749256	3	1	158	1	0	0	0	0	1	0	0	0	15264	1115	39	1	2193	1	STAT2	12	56749256	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	224617	56749256	77102639	1809	85590											
TMEM194A	23306	broad.mit.edu	37	chr12	57457008	57457008	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatctggatgccagaatacaTgaaacacaggcccatcagct	8	11	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:57457008T>C	uc001smy.2	-	7	920	c.874A>G	c.(874-876)ATG>GTG	p.M292V	TMEM194A_uc001smx.2_Missense_Mutation_p.M219V|TMEM194A_uc010sra.1_Missense_Mutation_p.M33V	NM_001130963	NP_001124435	O14524	T194A_HUMAN	transmembrane protein 194A isoform a	292	Helical; (Potential).					integral to membrane					0						CCAGAATACATGAAACACAGG	0.448													C	57457008	T	C	57457008	3	2	158	1	0	0	0	0	1	0	0	0	16113	1464	51	3	472	3	TMEM194A	12	57457008	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	707752	57457008	76394887	1810	85591											
LRP1	4035	broad.mit.edu	37	chr12	57552351	57552351	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accggcttcatctactttgcCgacaccaccagctacctcat	5	17	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:57552351C>A	uc001snd.2	+	11	2194	c.1728C>A	c.(1726-1728)GCC>GCA	p.A576A		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	576	LDL-receptor class B 4.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCTACTTTGCCGACACCACCA	0.592													A	57552351	C	A	57552351	2	1	158	1	0	0	0	0	0	0	0	1	8951	639	23	5		5	LRP1	12	57552351	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	95343	57552351	76299544	1811	85592											
LRP1	4035	broad.mit.edu	37	chr12	57567581	57567581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcggtgcatcagcaaagCgtgggtgtgtgatggcgaca	16	8	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:57567581C>T	uc001snd.2	+	22	3831	c.3365C>T	c.(3364-3366)GCG>GTG	p.A1122V		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1122	Extracellular (Potential).|LDL-receptor class A 9.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATCAGCAAAGCGTGGGTGTGT	0.632													T	57567581	C	T	57567581	3	4	158	1	0	0	0	0	1	0	0	0	8951	768	27	1	3451	1	LRP1	12	57567581	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	15230	57567581	76284314	1812	85593											
LRP1	4035	broad.mit.edu	37	chr12	57601925	57601925	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgaggtggcgcagatgaaGggcgagaaccgcaagacgct	16	8	0	5			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:57601925G>T	uc001snd.2	+	77	12430	c.11964G>T	c.(11962-11964)AAG>AAT	p.K3988N		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3988	LDL-receptor class B 32.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGCAGATGAAGGGCGAGAACC	0.647													T	57601925	G	T	57601925	3	4	158	1	0	0	0	0	1	0	0	0	8951	991	35	5	12270	5	LRP1	12	57601925	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	34344	57601925	76249970	1813	85594											
INHBC	3626	broad.mit.edu	37	chr12	57843578	57843578	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgccatgaacttctgcataGggcagtgcccactacacata	8	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:57843578G>T	uc001snv.1	+	2	959	c.832G>T	c.(832-834)GGG>TGG	p.G278W		NM_005538	NP_005529	P55103	INHBC_HUMAN	inhibin beta C chain preproprotein	278					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding				0						CTTCTGCATAGGGCAGTGCCC	0.542													T	57843578	G	T	57843578	3	4	158	1	0	0	0	0	1	0	0	0	7743	1000	35	5	838	5	INHBC	12	57843578	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	241653	57843578	76008317	1814	85595											
MBD6	114785	broad.mit.edu	37	chr12	57921401	57921401	+	Frame_Shift_Del	DEL	C	C	-													ccccctccaactcagggagaCccccccaactccttagccct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:57921400_57921400AC>A	uc001soj.1	+	7	2417	c.2193_2193AC>A	c.(2191-2193)agafs	p.R731fs	MBD6_uc001sok.1_Frame_Shift_Del_p.R598fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	731	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACTCAGGGAGACCCCCCCAAC	0.602													-	57921401	C	-	57921401	7	5	158	1	0	1	0	1	0	0	0	0	9348	507	18	0	2216	0	MBD6	12	57921401	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	77823	57921401	75930494	1815	85596											
KIF5A	3798	broad.mit.edu	37	chr12	57963420	57963420	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaagacaaaggcccagaaGgagacgattgcgaagctgga	15	7	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:57963420G>T	uc001sor.1	+	11	1279	c.1071G>T	c.(1069-1071)AAG>AAT	p.K357N	KIF5A_uc010srr.1_Missense_Mutation_p.K268N	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	357					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3						aggcccagaaggagaCGATTG	0.403													T	57963420	G	T	57963420	3	4	158	1	0	0	0	0	1	0	0	0	8305	991	35	5	1113	5	KIF5A	12	57963420	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	42019	57963420	75888475	1816	85597											
B4GALNT1	2583	broad.mit.edu	37	chr12	58025103	58025104	+	Frame_Shift_Ins	INS	-	-	C													ctggaaggggagggggaggcINScccccccactggactcacaa							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:58025102_58025103G>GC	uc001spg.1	-	2	695_696	c.263_264C>GC	c.(262-264)ggcfs	p.G88fs	B4GALNT1_uc010sru.2_Intron|B4GALNT1_uc010srv.2_Frame_Shift_Ins_p.G88fs|B4GALNT1_uc001spi.3_Frame_Shift_Ins_p.G88fs|B4GALNT1_uc010srw.1_Frame_Shift_Ins_p.G165fs	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	88					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.G88fs*24(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589													C	58025104	-	C	58025103	7	5	158	1	0	1	1	0	0	0	0	0	1266	739	26	0	1374	0	B4GALNT1	12	58025103	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	61683	58025103	75826792	1817	85598											
AGAP2	116986	broad.mit.edu	37	chr12	58124639	58124639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttaatgctggctgaggggCcaaaggcagagatggccctc	15	10	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:58124639C>T	uc001spq.2	-	11	2243	c.2243G>A	c.(2242-2244)GGC>GAC	p.G748D	AGAP2_uc001spp.2_Missense_Mutation_p.G748D|AGAP2_uc001spr.2_Missense_Mutation_p.G412D	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	748	PH.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5						GGCTGAGGGGCCAAAGGCAGA	0.572													T	58124639	C	T	58124639	3	4	158	1	0	0	0	0	1	0	0	0	368	739	26	2	1371	2	AGAP2	12	58124639	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	99536	58124639	75727256	1818	85599											
LRIG3	121227	broad.mit.edu	37	chr12	59266597	59266597	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagagcttttccaaaggtAcctgaaagaaagaaacacct	8	9	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:59266597A>G	uc001sqr.2	-	19	3363	c.3117T>C	c.(3115-3117)GGT>GGC	p.G1039G	LRIG3_uc009zqh.2_Silent_p.G979G|LRIG3_uc010ssh.1_RNA	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	1039						integral to membrane				skin(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;1.17e-18)			TTCCAAAGGTACCTGAAAGAA	0.423													G	59266597	A	G	59266597	2	3	158	1	0	0	0	0	0	0	0	1	8946	405	14	3		3	LRIG3	12	59266597	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1141958	59266597	74585298	1819	85600											
AVPR1A	552	broad.mit.edu	37	chr12	63544102	63544102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcagcacccaggcggccGcgatcatgaggcgcgagcgg	16	14	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:63544102G>A	uc001sro.1	-	1	2489	c.515C>T	c.(514-516)GCG>GTG	p.A172V		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	172	Helical; Name=4; (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCAGGCGGCCGCGATCATGAG	0.642													A	63544102	G	A	63544102	3	1	158	1	0	0	0	0	1	0	0	0	1231	1087	38	1	749	1	AVPR1A	12	63544102	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4277505	63544102	70307793	1820	85601											
AVPR1A	552	broad.mit.edu	37	chr12	63544335	63544335	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacggccaggtcggccagGctgaggtgtcggatgaagag	18	10	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:63544335G>A	uc001sro.1	-	1	2256	c.282C>T	c.(280-282)AGC>AGT	p.S94S		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	94	Helical; Name=2; (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGTCGGCCAGGCTGAGGTGTC	0.667													A	63544335	G	A	63544335	2	1	158	1	0	0	0	0	0	0	0	1	1231	1194	42	2		2	AVPR1A	12	63544335	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	233	63544335	70307560	1821	85602											
TBK1	29110	broad.mit.edu	37	chr12	64883863	64883863	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacctggaagcggcagagttAggtgaaatttcagacataca	11	7	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:64883863A>G	uc001ssc.1	+	13	1547	c.1485A>G	c.(1483-1485)TTA>TTG	p.L495L		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	495					I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5				GBM - Glioblastoma multiforme(28;0.0386)		CGGCAGAGTTAGGTGAAATTT	0.313													G	64883863	A	G	64883863	2	3	158	1	0	0	0	0	0	0	0	1	15634	417	15	3		3	TBK1	12	64883863	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1339528	64883863	68968032	1822	85603											
MSRB3	253827	broad.mit.edu	37	chr12	65672589	65672589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgcgccccctctcgctctGcctctccctctgcctctgcc	6	25	5	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:65672589G>A	uc001ssn.2	+	1	102	c.41G>A	c.(40-42)TGC>TAC	p.C14Y	MSRB3_uc001ssm.2_5'UTR|MSRB3_uc009zqp.2_5'UTR	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3 isoform 1	14					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		ctctcgctctgcctctccctc	0.483													A	65672589	G	A	65672589	3	1	158	1	0	0	0	0	1	0	0	0	9889	1319	46	2	43	2	MSRB3	12	65672589	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	788726	65672589	68179306	1823	85604											
GRIP1	23426	broad.mit.edu	37	chr12	66838456	66838456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgaaggtgctgtcttctGttggaattccattgatggcc	11	9	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:66838456G>A	uc001stk.2	-	12	1680	c.1439C>T	c.(1438-1440)ACA>ATA	p.T480I	GRIP1_uc010sta.1_Missense_Mutation_p.T424I|GRIP1_uc001stj.2_Missense_Mutation_p.T262I|GRIP1_uc001stl.1_Missense_Mutation_p.T372I|GRIP1_uc001stm.2_Missense_Mutation_p.T480I	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	532	PDZ 4.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GCTGTCTTCTGTTGGAATTCC	0.443													A	66838456	G	A	66838456	3	1	158	1	0	0	0	0	1	0	0	0	6787	1377	48	4	1843	4	GRIP1	12	66838456	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1165867	66838456	67013439	1824	85605											
GRIP1	23426	broad.mit.edu	37	chr12	66838474	66838474	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgttggaattccattgatgGccatcactctgtctccaatc	7	12	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:66838474G>T	uc001stk.2	-	12	1662	c.1421C>A	c.(1420-1422)GCC>GAC	p.A474D	GRIP1_uc010sta.1_Missense_Mutation_p.A418D|GRIP1_uc001stj.2_Missense_Mutation_p.A256D|GRIP1_uc001stl.1_Missense_Mutation_p.A366D|GRIP1_uc001stm.2_Missense_Mutation_p.A474D	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	526	PDZ 4.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCCATTGATGGCCATCACTCT	0.458													T	66838474	G	T	66838474	3	4	158	1	0	0	0	0	1	0	0	0	6787	1203	42	5	1861	5	GRIP1	12	66838474	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	18	66838474	67013421	1825	85606											
SLC35E3	55508	broad.mit.edu	37	chr12	69158493	69158493	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaaaacctcagctataacatGttcggacacttcaagttctg	6	10	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:69158493G>C	uc001suh.2	+	5	987	c.765G>C	c.(763-765)ATG>ATC	p.M255I		NM_018656	NP_061126	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E2	255	Helical; (Potential).					integral to membrane					0	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			GCTATAACATGTTCGGACACT	0.348													C	69158493	G	C	69158493	3	2	158	1	0	0	0	0	1	0	0	0	14586	1377	48	5	783	5	SLC35E3	12	69158493	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2320019	69158493	64693402	1826	85607											
ZFC3H1	196441	broad.mit.edu	37	chr12	72008708	72008708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttaatacttgattgaagagGatgacaaaggctgtttaaaa	9	3	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:72008708G>A	uc001swo.2	-	29	5625	c.5266C>T	c.(5266-5268)CCT>TCT	p.P1756S		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	1756	TPR 5.				RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						GATTGAAGAGGATGACAAAGG	0.348													A	72008708	G	A	72008708	3	1	158	1	0	0	0	0	1	0	0	0	17630	1174	41	4	731	4	ZFC3H1	12	72008708	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2850215	72008708	61843187	1827	85608											
ZFC3H1	196441	broad.mit.edu	37	chr12	72026030	72026030	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcatcatcaacatcattttCttcagtgtccagggttaatt	5	9	6	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:72026030C>A	uc001swo.2	-	15	3441	c.3082G>T	c.(3082-3084)GAA>TAA	p.E1028*		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	1028					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						ACATCATTTTCTTCAGTGTCC	0.363													A	72026030	C	A	72026030	4	1	158	1	0	0	0	0	0	1	0	0	17630	922	32	5	2971	5	ZFC3H1	12	72026030	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	17322	72026030	61825865	1828	85609											
KCNC2	3747	broad.mit.edu	37	chr12	75444611	75444611	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtagcaaatatcaaaactcCtagagccaggaaaattatca	7	8	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:75444611C>A	uc001sxg.1	-	3	1718	c.1174G>T	c.(1174-1176)GGA>TGA	p.G392*	KCNC2_uc009zry.2_Nonsense_Mutation_p.G392*|KCNC2_uc001sxe.2_Nonsense_Mutation_p.G392*|KCNC2_uc001sxf.2_Nonsense_Mutation_p.G392*|KCNC2_uc010stw.1_Nonsense_Mutation_p.G392*	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	392	Helical; Name=Segment S5; (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						ATCAAAACTCCTAGAGCCAGG	0.443													A	75444611	C	A	75444611	4	1	158	1	0	0	0	0	0	1	0	0	8015	690	24	5	820	5	KCNC2	12	75444611	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	3418581	75444611	58407284	1829	85610											
KCNC2	3747	broad.mit.edu	37	chr12	75601144	75601144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctgcagcctcctccagCggccagatttgccgtcgggg	16	14	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:75601144C>T	uc001sxg.1	-	2	1164	c.620G>A	c.(619-621)CGC>CAC	p.R207H	KCNC2_uc009zry.2_Missense_Mutation_p.R207H|KCNC2_uc001sxe.2_Missense_Mutation_p.R207H|KCNC2_uc001sxf.2_Missense_Mutation_p.R207H|KCNC2_uc010stw.1_Missense_Mutation_p.R207H	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	207	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R207C(1)		breast(2)|pancreas(2)|skin(1)|lung(1)	6						CCTCCTCCAGCGGCCAGATTT	0.701													T	75601144	C	T	75601144	3	4	158	1	0	0	0	0	1	0	0	0	8015	768	27	1	1378	1	KCNC2	12	75601144	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	156533	75601144	58250751	1830	85611											
KCNC2	3747	broad.mit.edu	37	chr12	75601437	75601437	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgagcacataggcgaagacGcccgggtgccggtcgaagaa	15	10	0	3	rs145691120	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:75601437G>A	uc001sxg.1	-	2	871	c.327C>T	c.(325-327)GGC>GGT	p.G109G	KCNC2_uc009zry.2_Silent_p.G109G|KCNC2_uc001sxe.2_Silent_p.G109G|KCNC2_uc001sxf.2_Silent_p.G109G|KCNC2_uc010stw.1_Silent_p.G109G	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	109	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						AGGCGAAGACGCCCGGGTGCC	0.697													A	75601437	G	A	75601437	2	1	158	1	0	0	0	0	0	0	0	1	8015	1074	38	1		1	KCNC2	12	75601437	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	293	75601437	58250458	1831	85612											
NAV3	89795	broad.mit.edu	37	chr12	78400806	78400806	+	Frame_Shift_Del	DEL	A	A	-													caggtgacagagatggctccAaaaaagacctccaaaattgc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:78400805_78400805CA>C	uc001syp.3	+	7	1660	c.1487_1487CA>C	c.(1486-1488)ccafs	p.P496fs	NAV3_uc001syo.3_Frame_Shift_Del_p.P496fs	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	496						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.A495P(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAGATGGCTCCAAAAAAGACC	0.413										HNSCC(70;0.22)			-	78400806	A	-	78400806	7	5	158	1	0	1	0	1	0	0	0	0	10185	117	5	0	1518	0	NAV3	12	78400806	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	2799369	78400806	55451089	1832	85613											
NAV3	89795	broad.mit.edu	37	chr12	78513063	78513063	+	Frame_Shift_Del	DEL	A	A	-													gagaaaggaaaagctcccctAaaaggatcatctctacaaag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:78513062_78513062TA>T	uc001syp.3	+	14	3259	c.3086_3086TA>T	c.(3085-3087)ctafs	p.L1029fs	NAV3_uc001syo.3_Frame_Shift_Del_p.L1029fs|NAV3_uc010sub.2_Frame_Shift_Del_p.L529fs|NAV3_uc009zsf.3_Frame_Shift_Del_p.L37fs	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1029						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.L1029Q(2)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAAGCTCCCCTAAAAGGATCA	0.438										HNSCC(70;0.22)			-	78513063	A	-	78513063	7	5	158	1	0	1	0	1	0	0	0	0	10185	349	13	0	3145	0	NAV3	12	78513063	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	112257	78513063	55338832	1833	85614											
LIN7A	8825	broad.mit.edu	37	chr12	81331457	81331457	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctggaccactgtcaatgtCgccatgtctgccgtgggagc	14	12	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:81331457C>T	uc001szj.1	-	1	238	c.45G>A	c.(43-45)GCG>GCA	p.A15A	LIN7A_uc001szk.1_RNA|MIR618_hsa-mir-618|MI0003632_5'Flank	NM_004664	NP_004655	O14910	LIN7A_HUMAN	lin-7 homolog A	15	Kinase interacting site.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			ovary(1)|skin(1)	2						CTGTCAATGTCGCCATGTCTG	0.542													T	81331457	C	T	81331457	2	4	158	1	0	0	0	0	0	0	0	1	8810	871	31	1		1	LIN7A	12	81331457	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2818394	81331457	52520438	1834	85615											
C12orf29	91298	broad.mit.edu	37	chr12	88439400	88439400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaacaaacagtattgctggCattcctctgtagttaattat	6	8	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:88439400C>T	uc001tao.2	+	5	621	c.463C>T	c.(463-465)CAT>TAT	p.H155Y	C12orf29_uc001tap.2_RNA|C12orf29_uc009zsk.2_Intron	NM_001009894	NP_001009894	Q8N999	CL029_HUMAN	hypothetical protein LOC91298	155											0						GTATTGCTGGCATTCCTCTGT	0.343													T	88439400	C	T	88439400	3	4	158	1	0	0	0	0	1	0	0	0	1680	710	25	2	481	2	C12orf29	12	88439400	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	7107943	88439400	45412495	1835	85616											
C12orf12	196477	broad.mit.edu	37	chr12	91347424	91347424	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcctctacgaagattgAtaaaggcatttccagaggca	9	9	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:91347424A>C	uc001tbj.2	-	1	1530	c.1096T>G	c.(1096-1098)TCA>GCA	p.S366A		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	366	Glu-rich.									central_nervous_system(1)|pancreas(1)	2						ACGAAGATTGATAAAGGCATT	0.348													C	91347424	A	C	91347424	3	2	158	1	0	0	0	0	1	0	0	0	1676	333	12	5	128	5	C12orf12	12	91347424	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	2908024	91347424	42504471	1836	85617											
C12orf12	196477	broad.mit.edu	37	chr12	91348307	91348307	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaccaaaagcccgggccGtgctgttgcttcggctgctt	13	12	0	0	rs151076167		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:91348307G>A	uc001tbj.2	-	1	647	c.213C>T	c.(211-213)CAC>CAT	p.H71H		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	71										central_nervous_system(1)|pancreas(1)	2						AGCCCGGGCCGTGCTGTTGCT	0.647													A	91348307	G	A	91348307	2	1	158	1	0	0	0	0	0	0	0	1	1676	1136	40	1		1	C12orf12	12	91348307	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	883	91348307	42503588	1837	85618											
DCN	1634	broad.mit.edu	37	chr12	91550888	91550888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatattggtatcagcaatgcGgatgtaggagagcttcttca	12	6	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:91550888G>A	uc001tbs.2	-	4	710	c.616C>T	c.(616-618)CGC>TGC	p.R206C	DCN_uc001tbo.2_Missense_Mutation_p.R97C|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Missense_Mutation_p.R206C|DCN_uc001tbu.2_Missense_Mutation_p.R206C	NM_133503	NP_598010	P07585	PGS2_HUMAN	decorin isoform a preproprotein	206	LRR 6.				organ morphogenesis	extracellular space				central_nervous_system(2)|ovary(1)|lung(1)	4						TCAGCAATGCGGATGTAGGAG	0.378													A	91550888	G	A	91550888	3	1	158	1	0	0	0	0	1	0	0	0	4297	1116	39	1	479	1	DCN	12	91550888	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	202581	91550888	42301007	1838	85619											
DCN	1634	broad.mit.edu	37	chr12	91552181	91552181	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttgggcattttttctggcaAttccttcagctgattcttgg	9	8	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:91552181A>T	uc001tbs.2	-	3	524	c.430T>A	c.(430-432)TTG>ATG	p.L144M	DCN_uc001tbo.2_Intron|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Missense_Mutation_p.L144M|DCN_uc001tbu.2_Missense_Mutation_p.L144M	NM_133503	NP_598010	P07585	PGS2_HUMAN	decorin isoform a preproprotein	144	LRR 4.				organ morphogenesis	extracellular space				central_nervous_system(2)|ovary(1)|lung(1)	4						TTTTCTGGCAATTCCTTCAGC	0.408													T	91552181	A	T	91552181	3	4	158	1	0	0	0	0	1	0	0	0	4297	98	4	5	669	5	DCN	12	91552181	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1293	91552181	42299714	1839	85620											
HAL	3034	broad.mit.edu	37	chr12	96380913	96380913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccacaatgtcagcctgcCgtgcaatagcactggctcgc	10	15	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:96380913C>T	uc001tem.1	-	12	1280	c.983G>A	c.(982-984)CGG>CAG	p.R328Q	HAL_uc009zti.1_RNA|HAL_uc010suw.1_Missense_Mutation_p.R120Q|HAL_uc010sux.1_Missense_Mutation_p.R328Q	NM_002108	NP_002099	P42357	HUTH_HUMAN	histidine ammonia-lyase	328					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			ovary(2)|skin(1)	3					L-Histidine(DB00117)	GTCAGCCTGCCGTGCAATAGC	0.562													T	96380913	C	T	96380913	3	4	158	1	0	0	0	0	1	0	0	0	6947	652	23	1	1030	1	HAL	12	96380913	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	4828732	96380913	37470982	1840	85621											
ELK3	2004	broad.mit.edu	37	chr12	96640867	96640867	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcgtctccggagggccgCgaggcccacaaacacggcct	14	15	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:96640867C>T	uc001teo.1	+	3	636	c.357C>T	c.(355-357)CGC>CGT	p.R119R		NM_005230	NP_005221	P41970	ELK3_HUMAN	ELK3 protein	119					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	all_cancers(2;0.00173)					CGGAGGGCCGCGAGGCCCACA	0.612													T	96640867	C	T	96640867	2	4	158	1	0	0	0	0	0	0	0	1	5060	755	27	1		1	ELK3	12	96640867	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	259954	96640867	37211028	1841	85622											
ELK3	2004	broad.mit.edu	37	chr12	96640914	96640914	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcagaagcacgagccgcaAcgaatacatccactcaggcc	8	16	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:96640914A>C	uc001teo.1	+	3	683	c.404A>C	c.(403-405)AAC>ACC	p.N135T		NM_005230	NP_005221	P41970	ELK3_HUMAN	ELK3 protein	135					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	all_cancers(2;0.00173)					ACGAGCCGCAACGAATACATC	0.617													C	96640914	A	C	96640914	3	2	158	1	0	0	0	0	1	0	0	0	5060	43	2	5	410	5	ELK3	12	96640914	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	47	96640914	37210981	1842	85623											
CDK17	5128	broad.mit.edu	37	chr12	96679898	96679898	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactcctcatttgaagaaatAcctggccaagtttcctgaga	7	10	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:96679898A>G	uc001tep.1	-	13	1734	c.1245T>C	c.(1243-1245)GGT>GGC	p.G415G	CDK17_uc009ztk.2_Silent_p.G415G|CDK17_uc010svb.1_Silent_p.G362G	NM_002595	NP_002586	Q00537	CDK17_HUMAN	PCTAIRE protein kinase 2	415	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			ovary(3)|lung(2)|kidney(1)|central_nervous_system(1)	7						TTGAAGAAATACCTGGCCAAG	0.249													G	96679898	A	G	96679898	2	3	158	1	0	0	0	0	0	0	0	1	3133	378	14	3		3	CDK17	12	96679898	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	38984	96679898	37171997	1843	85624											
C12orf63	374467	broad.mit.edu	37	chr12	97078887	97078887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacacgtggaaagaatttgGcccctcactcaccaatgtca	7	13	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:97078887G>A	uc001tet.1	+	9	1238	c.1160G>A	c.(1159-1161)GGC>GAC	p.G387D		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	387										skin(6)|ovary(1)	7						AAAGAATTTGGCCCCTCACTC	0.458													A	97078887	G	A	97078887	3	1	158	1	0	0	0	0	1	0	0	0	1706	1203	42	2	1190	2	C12orf63	12	97078887	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	398989	97078887	36773008	1844	85625											
NEDD1	121441	broad.mit.edu	37	chr12	97337417	97337417	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtacttcagtattgcaTtctagtcctcttaatgtttt	5	8	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:97337417T>C	uc001teu.3	+	12	1713	c.1374T>C	c.(1372-1374)CAT>CAC	p.H458H	NEDD1_uc001tev.3_Silent_p.H458H|NEDD1_uc010svc.1_Silent_p.H369H|NEDD1_uc001tew.2_Silent_p.H465H|NEDD1_uc001tex.2_Silent_p.H369H	NM_152905	NP_690869	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally	458					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol					0						CAGTATTGCATTCTAGTCCTC	0.383													C	97337417	T	C	97337417	2	2	158	1	0	0	0	0	0	0	0	1	10309	1490	52	3		3	NEDD1	12	97337417	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	258530	97337417	36514478	1845	85626											
APAF1	317	broad.mit.edu	37	chr12	99071207	99071208	+	Frame_Shift_Ins	INS	-	-	A													tttccctgtatttagaaacaINSaaaaaaacatcacgaatctt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:99071206_99071207C>CA	uc001tfz.3	+	12	2374_2375	c.1797_1798C>CA	c.(1795-1800)aacaaafs	p.N599fs	APAF1_uc001tfy.3_Frame_Shift_Ins_p.N588fs|APAF1_uc001tga.3_Frame_Shift_Ins_p.N588fs|APAF1_uc001tgb.3_Frame_Shift_Ins_p.N599fs|APAF1_uc001tgc.3_Intron|APAF1_uc009zto.3_Frame_Shift_Ins_p.N8fs	NM_181861	NP_863651	O14727	APAF_HUMAN	Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	599					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding	p.N602fs*23(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TATTTAGAAACAAAAAAAACAT	0.347													A	99071208	-	A	99071207	7	5	158	1	0	1	1	0	0	0	0	0	755	131	5	0	1844	0	APAF1	12	99071207	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	1733790	99071207	34780688	1846	85627											
ANKS1B	56899	broad.mit.edu	37	chr12	100200245	100200245	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgctttgtggccattgcgCgcagcaaggtgaagtggcgt	15	9	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:100200245C>T	uc001tge.1	-	4	1023	c.606G>A	c.(604-606)GCG>GCA	p.A202A	ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Silent_p.A202A	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	202	ANK 6.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GGCCATTGCGCGCAGCAAGGT	0.493													T	100200245	C	T	100200245	2	4	158	1	0	0	0	0	0	0	0	1	689	755	27	1		1	ANKS1B	12	100200245	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1129038	100200245	33651650	1847	85628											
SLC17A8	246213	broad.mit.edu	37	chr12	100790120	100790120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgccagggtgtgacctacCcagcctgccatgggatgtgg	14	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:100790120C>A	uc010svi.1	+	5	914	c.601C>A	c.(601-603)CCA>ACA	p.P201T	SLC17A8_uc009ztx.2_Missense_Mutation_p.P201T	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	201	Helical; (Potential).				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3						TGTGACCTACCCAGCCTGCCA	0.453													A	100790120	C	A	100790120	3	1	158	1	0	0	0	0	1	0	0	0	14423	623	22	5	619	5	SLC17A8	12	100790120	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	589875	100790120	33061775	1848	85629											
DRAM1	55332	broad.mit.edu	37	chr12	102295099	102295099	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtatacaagatacaaaaTagtacagaagcaaaatcaaa	6	5	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:102295099T>C	uc001tix.2	+	3	693	c.230T>C	c.(229-231)ATA>ACA	p.I77T	DRAM1_uc010svv.1_Missense_Mutation_p.I77T	NM_018370	NP_060840	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	77					apoptosis|autophagy	integral to membrane|lysosomal membrane				ovary(1)	1						AGATACAAAATAGTACAGAAG	0.383													C	102295099	T	C	102295099	3	2	158	1	0	0	0	0	1	0	0	0	4753	1406	49	3	240	3	DRAM1	12	102295099	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1504979	102295099	31556796	1849	85630											
C12orf48	55010	broad.mit.edu	37	chr12	102559514	102559514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttaattcataggtggccaCgtcttttattagaacaatag	7	6	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:102559514C>T	uc001tjf.2	+	6	786	c.674C>T	c.(673-675)ACG>ATG	p.T225M	C12orf48_uc001tjg.2_Missense_Mutation_p.T144M|C12orf48_uc010swa.1_Missense_Mutation_p.T302M|C12orf48_uc001tjh.2_Missense_Mutation_p.T144M|C12orf48_uc010swb.1_Missense_Mutation_p.T111M|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Translation_Start_Site|C12orf48_uc001tjk.2_Missense_Mutation_p.T225M|C12orf48_uc009zud.2_Missense_Mutation_p.T225M	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN	hypothetical protein LOC55010	225					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding				0						TAGGTGGCCACGTCTTTTATT	0.328													T	102559514	C	T	102559514	3	4	158	1	0	0	0	0	1	0	0	0	1692	536	19	1	445	1	C12orf48	12	102559514	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	264415	102559514	31292381	1850	85631											
TDG	6996	broad.mit.edu	37	chr12	104376689	104376689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatggtggaaaggaccacGcccggcagcaaagatctctc	11	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:104376689G>A	uc001tkg.2	+	5	814	c.591G>A	c.(589-591)ACG>ACA	p.T197T	TDG_uc009zuk.2_Silent_p.T193T|TDG_uc010swi.1_Silent_p.T54T|TDG_uc010swj.1_Missense_Mutation_p.R13H	NM_003211	NP_003202	Q13569	TDG_HUMAN	thymine-DNA glycosylase	197					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			ovary(3)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AAAGGACCACGCCCGGCAGCA	0.463								BER_DNA_glycosylases					A	104376689	G	A	104376689	2	1	158	1	0	0	0	0	0	0	0	1	15722	1074	38	1		1	TDG	12	104376689	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1817175	104376689	29475206	1851	85632											
POLR3B	55703	broad.mit.edu	37	chr12	106857280	106857280	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggagcaacagactcataTattgaaaaagtgatgatatc	8	5	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:106857280T>C	uc001tlp.2	+	23	2817	c.2595T>C	c.(2593-2595)TAT>TAC	p.Y865Y	POLR3B_uc001tlq.2_Silent_p.Y807Y	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	865					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						CAGACTCATATATTGAAAAAG	0.378													C	106857280	T	C	106857280	2	2	158	1	0	0	0	0	0	0	0	1	12229	1413	49	3		3	POLR3B	12	106857280	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	2480591	106857280	26994615	1852	85633											
BTBD11	121551	broad.mit.edu	37	chr12	107712894	107712894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcctctagctgactccatGcacagccggcacaacagctt	8	17	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:107712894G>A	uc001tmk.1	+	1	698	c.177G>A	c.(175-177)ATG>ATA	p.M59I	BTBD11_uc009zut.1_Missense_Mutation_p.M59I|BTBD11_uc001tmj.2_Missense_Mutation_p.M59I	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	59						integral to membrane	DNA binding			skin(2)|ovary(1)	3						CTGACTCCATGCACAGCCGGC	0.662													A	107712894	G	A	107712894	3	1	158	1	0	0	0	0	1	0	0	0	1539	1319	46	2	179	2	BTBD11	12	107712894	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	855614	107712894	26139001	1853	85634											
PWP1	11137	broad.mit.edu	37	chr12	108105908	108105908	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatgaagcatttggaagaCgagagaggcttgttcttggg	14	4	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:108105908C>T	uc001tmo.1	+	15	1504	c.1417C>T	c.(1417-1419)CGA>TGA	p.R473*	PWP1_uc009zuu.1_3'UTR	NM_007062	NP_008993	Q13610	PWP1_HUMAN	periodic tryptophan protein 1	473					transcription, DNA-dependent	nucleus					0						ATTTGGAAGACGAGAGAGGCT	0.368													T	108105908	C	T	108105908	4	4	158	1	0	0	0	0	0	1	0	0	12843	528	19	1	1475	1	PWP1	12	108105908	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	393014	108105908	25745987	1854	85635											
SELPLG	6404	broad.mit.edu	37	chr12	109017765	109017765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacaggttccccatgttggCcagctccgtggtcagctctg	13	13	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:109017765C>T	uc001tni.2	-	2	479	c.319G>A	c.(319-321)GCC>ACC	p.A107T	SELPLG_uc001tnh.2_Missense_Mutation_p.A107T|SELPLG_uc010sxe.1_Missense_Mutation_p.A123T	NM_003006	NP_002997	Q14242	SELPL_HUMAN	selectin P ligand	107	Extracellular (Potential).				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding				0						CCCATGTTGGCCAGCTCCGTG	0.607													T	109017765	C	T	109017765	3	4	158	1	0	0	0	0	1	0	0	0	14020	739	26	2	897	2	SELPLG	12	109017765	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	911857	109017765	24834130	1855	85636											
CORO1C	23603	broad.mit.edu	37	chr12	109095026	109095026	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacccggatgtcatcataGcactggtcatttttcaccgc	8	12	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:109095026G>A	uc001tnj.2	-	2	165	c.69C>T	c.(67-69)TGC>TGT	p.C23C	CORO1C_uc009zva.2_Silent_p.C76C|CORO1C_uc010sxf.1_Silent_p.C23C	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C isoform 1	23					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			skin(3)	3						TGTCATCATAGCACTGGTCAT	0.478													A	109095026	G	A	109095026	2	1	158	1	0	0	0	0	0	0	0	1	3755	963	34	2		2	CORO1C	12	109095026	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	77261	109095026	24756869	1856	85637											
SSH1	54434	broad.mit.edu	37	chr12	109181948	109181948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcactggacaggtcttccGttgagaaggtgagactcccc	11	13	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:109181948G>A	uc001tnm.2	-	15	3053	c.2966C>T	c.(2965-2967)ACG>ATG	p.T989M	SSH1_uc001tnl.2_Missense_Mutation_p.T677M	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	989	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4						CAGGTCTTCCGTTGAGAAGGT	0.612													A	109181948	G	A	109181948	3	1	158	1	0	0	0	0	1	0	0	0	15183	1145	40	1	187	1	SSH1	12	109181948	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	86922	109181948	24669947	1857	85638											
ACACB	32	broad.mit.edu	37	chr12	109675153	109675153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accataggttcttcatccgcGccatcatcaggcactctgac	7	15	5	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:109675153G>A	uc001tob.2	+	34	4749	c.4630G>A	c.(4630-4632)GCC>ACC	p.A1544T	ACACB_uc001toc.2_Missense_Mutation_p.A1544T|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.A210T	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1544					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	CTTCATCCGCGCCATCATCAG	0.517													A	109675153	G	A	109675153	3	1	158	1	0	0	0	0	1	0	0	0	107	1087	38	1	4760	1	ACACB	12	109675153	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	493205	109675153	24176742	1858	85639											
MVK	4598	broad.mit.edu	37	chr12	110019240	110019240	+	Frame_Shift_Del	DEL	C	C	-													tcgtagtgtggtcggagctgCcccccggggcgggcttgggc					rs104895373		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:110019239_110019239GC>G	uc001toy.4	+	4	595	c.411_411GC>G	c.(409-411)ctgfs	p.L137fs	MVK_uc009zvk.3_Frame_Shift_Del_p.L137fs|MVK_uc010sxr.2_Intron|MVK_uc001toz.4_Intron|MVK_uc021rdo.1_Frame_Shift_Del_p.L137fs|MVK_uc001tpc.4_Non-coding_Transcript	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA.	137					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GGTCGGAGCTGCCCCCCGGGG	0.662													-	110019240	C	-	110019240	7	5	158	1	0	1	0	1	0	0	0	0	9995	739	26	0	426	0	MVK	12	110019240	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	344087	110019240	23832655	1859	85640											
C12orf34	84915	broad.mit.edu	37	chr12	110206381	110206381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccaggccccgggcgccgCaccccctgcctgccagggca	14	20	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:110206381C>T	uc001tpd.1	+	3	1206	c.647C>T	c.(646-648)GCA>GTA	p.A216V	MGC14436_uc010sxs.1_Intron|MGC14436_uc001tpe.2_Intron|C12orf34_uc001tpf.1_Missense_Mutation_p.A216V	NM_032829	NP_116218	Q5U5X8	CL034_HUMAN	hypothetical protein LOC84915	216	Pro-rich.									ovary(1)	1						CCGGGCGCCGCACCCCCTGCC	0.716													T	110206381	C	T	110206381	3	4	158	1	0	0	0	0	1	0	0	0	1681	710	25	2	653	2	C12orf34	12	110206381	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	187141	110206381	23645514	1860	85641											
TCHP	84260	broad.mit.edu	37	chr12	110344435	110344435	+	Frame_Shift_Del	DEL	A	A	-													ttgggaaatgcagaaagaagAaaaaaaacaggtgtggtatg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:110344435delA	uc001tpn.2	+	5	668	c.515delA	c.(514-516)GAAfs	p.E172fs	TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Frame_Shift_Del_p.E172fs	NM_001143852	NP_001137324	Q9BT92	TCHP_HUMAN	trichoplein	172	Glu-rich.|Interaction with keratin proteins.|Potential.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			skin(1)	1						CAGAAAGAAGAAAAAAAACAG	0.478													-	110344435	A	-	110344435	7	5	158	1	0	1	0	1	0	0	0	0	15699	246	9	0	529	0	TCHP	12	110344435	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	138054	110344435	23507460	1861	85642											
CUX2	23316	broad.mit.edu	37	chr12	111748391	111748391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagccctggcgcaagctcaCggtgaagggcaaggagccct	14	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:111748391C>T	uc001tsa.1	+	15	1958	c.1805C>T	c.(1804-1806)ACG>ATG	p.T602M		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	602	CUT 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						CGCAAGCTCACGGTGAAGGGC	0.617													T	111748391	C	T	111748391	3	4	158	1	0	0	0	0	1	0	0	0	4065	536	19	1	1863	1	CUX2	12	111748391	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1403956	111748391	22103504	1862	85643											
BRAP	8315	broad.mit.edu	37	chr12	112110576	112110576	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atataaaaactatccgcatcAgcctatgtacaccaatgggg	7	10	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:112110576A>G	uc001tsn.3	-	5	830	c.636T>C	c.(634-636)GCT>GCC	p.A212A	BRAP_uc010syh.1_Intron|BRAP_uc009zvv.2_Silent_p.A182A	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	212					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			lung(1)	1						TATCCGCATCAGCCTATGTAC	0.393													G	112110576	A	G	112110576	2	3	158	1	0	0	0	0	0	0	0	1	1497	175	7	3		3	BRAP	12	112110576	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	362185	112110576	21741319	1863	85644											
BRAP	8315	broad.mit.edu	37	chr12	112119464	112119464	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcttatataggtgcataatAccatgaactatttcaactga	6	7	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:112119464A>G	uc001tsn.3	-	3	614	c.420T>C	c.(418-420)GGT>GGC	p.G140G	BRAP_uc010syh.1_5'UTR|BRAP_uc009zvv.2_Silent_p.G110G	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	140					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			lung(1)	1						GGTGCATAATACCATGAACTA	0.368													G	112119464	A	G	112119464	2	3	158	1	0	0	0	0	0	0	0	1	1497	378	14	3		3	BRAP	12	112119464	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	8888	112119464	21732431	1864	85645											
ACAD10	80724	broad.mit.edu	37	chr12	112184870	112184870	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtatgtaactgctctgcGcctgacacgggcaacatgga	12	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:112184870G>A	uc001tsq.2	+	15	2474	c.2274G>A	c.(2272-2274)GCG>GCA	p.A758A	ACAD10_uc001tsp.2_Silent_p.A758A|ACAD10_uc009zvx.2_Silent_p.A789A|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	758							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovar